Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Consequence	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	t_ref_count	t_alt_count	n_ref_count	n_alt_count	HGVSc	HGVSp	HGVSp_Short	Transcript_ID	RefSeq	Protein_position	Codons	Hotspot	AA_MAF	AFR_MAF	ALLELE_NUM	AMR_MAF	ASN_MAF	Allele	Amino_acids	BIOTYPE	CANONICAL	CCDS	CDS_position	CENTERS	CLIN_SIG	CONTEXT	COSMIC	DBVS	DISTANCE	DOMAINS	EAS_MAF	EA_MAF	ENSP	EUR_MAF	EXON	ExAC_AF	ExAC_AF_AFR	ExAC_AF_AMR	ExAC_AF_EAS	ExAC_AF_FIN	ExAC_AF_NFE	ExAC_AF_OTH	ExAC_AF_SAS	Existing_variation	Exon_Number	FILTER	Feature	Feature_type	GENE_PHENO	GMAF	Gene	HGNC_ID	HGVS_OFFSET	HIGH_INF_POS	IMPACT	INTRON	MERGESOURCE	MINIMISED	MOTIF_NAME	MOTIF_POS	MOTIF_SCORE_CHANGE	NCALLERS	PHENO	PICK	PUBMED	PolyPhen	SAS_MAF	SIFT	SOMATIC	SWISSPROT	SYMBOL	SYMBOL_SOURCE	TREMBL	TSL	UNIPARC	VARIANT_CLASS	all_effects	cDNA_position	n_depth	t_depth	Annotation_Status
EBF3	253738	.	GRCh37	10	131761669	131761669	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	71	0	ENST00000355311.5:c.253G>A	p.Glu85Lys	p.E85K	ENST00000355311		85	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31314.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCAATCT	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000357637	.	2/16	.	.	.	.	.	.	.	.	COSM3435719,COSM3435720	2/16	PASS	ENST00000368648	Transcript	.	.	ENSG00000108001	19087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.984)	.	deleterious(0.01)	1,1	COE3_HUMAN	EBF3	HGNC	Q658Y5_HUMAN	.	UPI000002A6FB	SNV	EBF3,missense_variant,p.Glu85Lys,ENST00000355311,;EBF3,missense_variant,p.Glu85Lys,ENST00000368648,;	326	71	78	SUCCESS
ADARB2	105	.	GRCh37	10	1405746	1405746	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	36	128	0	ENST00000381312.1:c.554C>T	p.Ala185Val	p.A185V	ENST00000381312	NM_018702.3	185	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7058.1	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGCCAGC	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000370713	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,missense_variant,p.Ala185Val,ENST00000381312,;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	880	128	152	SUCCESS
FXYD4	53828	.	GRCh37	10	43869118	43869118	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	23	0	ENST00000476166.1:c.-77G>T		p.*26*	ENST00000476166	NM_173160.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7203.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGTGAGCCTGG	NONE	.	.	.	.	.	ENSP00000473361	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000476166	Transcript	.	.	ENSG00000150201	4028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FXYD4_HUMAN	FXYD4	HGNC	.	.	UPI0000160F0C	SNV	FXYD4,5_prime_UTR_variant,,ENST00000476166,;FXYD4,intron_variant,,ENST00000480834,;FXYD4,upstream_gene_variant,,ENST00000479189,;	258	23	42	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75561253	75561253	+	synonymous_variant	Silent	SNP	C	C	T	rs749096821	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	72	0	ENST00000605216.1:c.5490C>T	p.Leu1830=	p.L1830=	ENST00000605216	NM_001242487.1	1830	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44440.1	5505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTCGAGAT	NONE	byFrequency	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	26/26	.	.	.	.	.	.	.	.	rs749096821	26/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,stop_gained,p.Arg1140Ter,ENST00000603187,;ZSWIM8,stop_gained,p.Arg112Ter,ENST00000466354,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604754,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604729,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604524,;ZSWIM8,synonymous_variant,p.%3D,ENST00000412198,;ZSWIM8,synonymous_variant,p.%3D,ENST00000603114,;ZSWIM8,synonymous_variant,p.%3D,ENST00000605216,;ZSWIM8,synonymous_variant,p.%3D,ENST00000398706,;NDST2,downstream_gene_variant,,ENST00000429742,;NDST2,downstream_gene_variant,,ENST00000299641,;NDST2,downstream_gene_variant,,ENST00000309979,;ZSWIM8-AS1,upstream_gene_variant,,ENST00000456638,;ZSWIM8,downstream_gene_variant,,ENST00000466568,;ZSWIM8,downstream_gene_variant,,ENST00000603840,;ZSWIM8,downstream_gene_variant,,ENST00000604165,;ZSWIM8,downstream_gene_variant,,ENST00000603409,;ZSWIM8,downstream_gene_variant,,ENST00000603309,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,downstream_gene_variant,,ENST00000603195,;ZSWIM8,3_prime_UTR_variant,,ENST00000492395,;ZSWIM8,3_prime_UTR_variant,,ENST00000433366,;RP11-574K11.31,3_prime_UTR_variant,,ENST00000603027,;RP11-574K11.31,intron_variant,,ENST00000603706,;	5722	72	86	SUCCESS
LRIT2	340745	.	GRCh37	10	85982126	85982126	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	55	0	ENST00000372113.4:c.1203T>C	p.Asp401=	p.D401=	ENST00000372113	NM_001017924.2	401	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS31234.1	1203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCATCCGA	NONE	.	.	hmmpanther:PTHR24365:SF93,hmmpanther:PTHR24365	.	.	ENSP00000361185	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372113	Transcript	.	.	ENSG00000204033	23443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIT2_HUMAN	LRIT2	HGNC	.	.	UPI00002374E4	SNV	LRIT2,synonymous_variant,p.%3D,ENST00000372113,;LRIT2,synonymous_variant,p.%3D,ENST00000538192,;CDHR1,downstream_gene_variant,,ENST00000332904,;	1209	55	70	SUCCESS
RP11-693N9.2	0	.	GRCh37	11	104776270	104776270	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	24	0	ENST00000531091.1:n.1404A>C		p.*468*	ENST00000531091				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTCCTGG	NONE	.	.	.	.	.	.	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000531091	Transcript	.	.	ENSG00000235505	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-693N9.2	Clone_based_vega_gene	.	.	.	SNV	RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000531371,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000527637,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000532510,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000528437,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000531091,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000527425,;RP11-693N9.2,downstream_gene_variant,,ENST00000527617,;RP11-693N9.2,downstream_gene_variant,,ENST00000530264,;RP11-693N9.2,upstream_gene_variant,,ENST00000534659,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000532441,;	1404	24	42	SUCCESS
SAA2	6289	.	GRCh37	11	18266987	18266987	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	26	124	0	ENST00000256733.4:c.306A>G	p.Lys102=	p.K102=	ENST00000256733	NM_030754.4	102	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS7833.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCATTTATT	BUFFER|p.K102E|c.304A>G|5	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197	.	.	ENSP00000436126	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000526900	Transcript	.	.	ENSG00000134339	10514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAA2_HUMAN	SAA2	HGNC	.	.	UPI000016A553	SNV	SAA2,synonymous_variant,p.%3D,ENST00000529528,;SAA2,synonymous_variant,p.%3D,ENST00000526900,;SAA2,synonymous_variant,p.%3D,ENST00000256733,;SAA2,intron_variant,,ENST00000530400,;SAA2,intron_variant,,ENST00000414546,;SAA2,intron_variant,,ENST00000528349,;RNA5SP333,downstream_gene_variant,,ENST00000363466,;SAA2-SAA4,intron_variant,,ENST00000524555,;	490	124	132	SUCCESS
B4GALNT4	338707	.	GRCh37	11	377314	377314	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	61	0	ENST00000329962.6:c.2191G>A	p.Ala731Thr	p.A731T	ENST00000329962	NM_178537.4	731	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7694.1	2191	MUTECT|MUSE|VARSCANS	.	TGAACGCGCGC	NONE	.	.	hmmpanther:PTHR12369:SF9,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000328277	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000329962	Transcript	.	.	ENSG00000182272	26315	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated(0.09)	.	B4GN4_HUMAN	B4GALNT4	HGNC	.	.	UPI00002326B6	SNV	B4GALNT4,missense_variant,p.Ala731Thr,ENST00000329962,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000530717,;B4GALNT4,downstream_gene_variant,,ENST00000524443,;B4GALNT4,upstream_gene_variant,,ENST00000534778,;	2191	61	65	SUCCESS
RPLP0P2	113157	.	GRCh37	11	61405258	61405258	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	25	0	ENST00000496593.1:n.1862A>T		p.*621*	ENST00000496593				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAAAATA	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000496593	Transcript	.	.	ENSG00000243742	17960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RPLP0P2	HGNC	.	.	.	SNV	RPLP0P2,non_coding_transcript_exon_variant,,ENST00000496593,;RPLP0P2,downstream_gene_variant,,ENST00000475561,;RPLP0P2,downstream_gene_variant,,ENST00000492786,;RPLP0P2,downstream_gene_variant,,ENST00000475331,;RPLP0P2,downstream_gene_variant,,ENST00000478959,;RPLP0P2,downstream_gene_variant,,ENST00000490750,;	1862	25	25	SUCCESS
TRPT1	83707	.	GRCh37	11	63992060	63992060	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	76	0	ENST00000317459.6:c.457A>C	p.Ile153Leu	p.I153L	ENST00000317459		153	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS53652.1	463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAATGTGCG	NONE	.	.	hmmpanther:PTHR12684,hmmpanther:PTHR12684:SF2,Pfam_domain:PF01885,Superfamily_domains:SSF56399	.	.	ENSP00000378050	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000394546	Transcript	.	.	ENSG00000149743	20316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.558)	.	deleterious(0.05)	.	TRPT1_HUMAN	TRPT1	HGNC	F5H8A0_HUMAN	.	UPI0001A51B8B	SNV	TRPT1,missense_variant,p.Ile153Leu,ENST00000317459,;TRPT1,missense_variant,p.Ile155Leu,ENST00000545812,;TRPT1,missense_variant,p.Ile104Leu,ENST00000394547,;TRPT1,missense_variant,p.Ile153Leu,ENST00000541278,;TRPT1,missense_variant,p.Ile27Leu,ENST00000546133,;TRPT1,missense_variant,p.Ile104Leu,ENST00000546089,;TRPT1,missense_variant,p.Ile17Leu,ENST00000544286,;TRPT1,missense_variant,p.Ile155Leu,ENST00000394546,;NUDT22,upstream_gene_variant,,ENST00000428347,;NUDT22,upstream_gene_variant,,ENST00000279206,;FERMT3,downstream_gene_variant,,ENST00000345728,;NUDT22,upstream_gene_variant,,ENST00000539325,;FERMT3,downstream_gene_variant,,ENST00000279227,;FERMT3,downstream_gene_variant,,ENST00000545896,;NUDT22,upstream_gene_variant,,ENST00000441250,;RP11-783K16.14,downstream_gene_variant,,ENST00000534988,;TRPT1,downstream_gene_variant,,ENST00000540472,;TRPT1,non_coding_transcript_exon_variant,,ENST00000536234,;TRPT1,non_coding_transcript_exon_variant,,ENST00000539595,;TRPT1,non_coding_transcript_exon_variant,,ENST00000541928,;TRPT1,non_coding_transcript_exon_variant,,ENST00000539436,;TRPT1,intron_variant,,ENST00000536158,;TRPT1,intron_variant,,ENST00000537907,;NUDT22,upstream_gene_variant,,ENST00000535000,;FERMT3,downstream_gene_variant,,ENST00000546255,;NUDT22,upstream_gene_variant,,ENST00000422364,;NUDT22,upstream_gene_variant,,ENST00000534929,;FERMT3,downstream_gene_variant,,ENST00000540957,;NUDT22,upstream_gene_variant,,ENST00000545184,;NUDT22,upstream_gene_variant,,ENST00000543501,;FERMT3,downstream_gene_variant,,ENST00000541326,;NUDT22,upstream_gene_variant,,ENST00000537707,;TRPT1,downstream_gene_variant,,ENST00000542040,;NUDT22,upstream_gene_variant,,ENST00000537094,;FERMT3,downstream_gene_variant,,ENST00000540554,;NUDT22,upstream_gene_variant,,ENST00000543358,;	677	77	68	SUCCESS
TSGA10IP	254187	.	GRCh37	11	65715032	65715032	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs761245228	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	78	0	ENST00000532620.1:n.967G>A		p.*323*	ENST00000532620				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGAGGAG	NONE	.	.	.	.	.	.	.	3/8	.	.	.	.	.	.	.	.	rs761245228	3/8	PASS	ENST00000532620	Transcript	.	.	ENSG00000175513	26555	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	TSGA10IP	HGNC	.	.	.	SNV	TSGA10IP,non_coding_transcript_exon_variant,,ENST00000533763,;TSGA10IP,non_coding_transcript_exon_variant,,ENST00000532620,;TSGA10IP,intron_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000528291,;TSGA10IP,downstream_gene_variant,,ENST00000531518,;TSGA10IP,missense_variant,p.Glu246Lys,ENST00000608857,;	967	78	91	SUCCESS
C11orf30	0	.	GRCh37	11	76175034	76175034	+	synonymous_variant	Silent	SNP	C	C	T	rs1323017581	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	26	161	0	ENST00000334736.3:c.741C>T	p.Ser247=	p.S247=	ENST00000334736	NM_020193.3	247	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8244.1	741	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCATTGC	NONE	.	.	hmmpanther:PTHR16500:SF2,hmmpanther:PTHR16500	.	.	ENSP00000432327	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000529032	Transcript	.	.	ENSG00000158636	18071	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EMSY_HUMAN	C11orf30	HGNC	.	.	UPI0000071307	SNV	C11orf30,synonymous_variant,p.%3D,ENST00000533248,;C11orf30,synonymous_variant,p.%3D,ENST00000524767,;C11orf30,synonymous_variant,p.%3D,ENST00000524490,;C11orf30,synonymous_variant,p.%3D,ENST00000334736,;C11orf30,synonymous_variant,p.%3D,ENST00000525919,;C11orf30,synonymous_variant,p.%3D,ENST00000525038,;C11orf30,synonymous_variant,p.%3D,ENST00000343878,;C11orf30,synonymous_variant,p.%3D,ENST00000529032,;C11orf30,intron_variant,,ENST00000533972,;C11orf30,non_coding_transcript_exon_variant,,ENST00000427574,;C11orf30,downstream_gene_variant,,ENST00000528826,;	741	161	197	SUCCESS
SBF2-AS1	283104	.	GRCh37	11	9830227	9830227	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	22	0	ENST00000498905.2:n.1045G>A		p.*349*	ENST00000498905				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31427.1	.	MUTECT|MUSE	.	TCTGTGGATGG	NONE	.	.	.	.	.	ENSP00000256190	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256190	Transcript	.	.	ENSG00000133812	2135	.	.	MODIFIER	31/39	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTMRD_HUMAN	SBF2	HGNC	H0YDZ1_HUMAN	.	UPI00000622D5	SNV	SBF2,intron_variant,,ENST00000256190,;SBF2,downstream_gene_variant,,ENST00000530741,;SBF2-AS1,non_coding_transcript_exon_variant,,ENST00000498905,;SBF2-AS1,downstream_gene_variant,,ENST00000534671,;SBF2-AS1,downstream_gene_variant,,ENST00000525636,;SBF2,non_coding_transcript_exon_variant,,ENST00000525697,;SBF2,downstream_gene_variant,,ENST00000524961,;SBF2,intron_variant,,ENST00000528478,;SBF2,downstream_gene_variant,,ENST00000533584,;	.	22	29	SUCCESS
TBX5	6910	.	GRCh37	12	114793370	114793370	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	87	0	ENST00000310346.4:c.1524T>G	p.Val508=	p.V508=	ENST00000310346	NM_000192.3	508	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS9173.1	1524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCAACTCC	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28	.	.	ENSP00000309913	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000310346	Transcript	.	.	ENSG00000089225	11604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBX5_HUMAN	TBX5	HGNC	.	.	UPI0000136AA2	SNV	TBX5,synonymous_variant,p.%3D,ENST00000405440,;TBX5,synonymous_variant,p.%3D,ENST00000349716,;TBX5,synonymous_variant,p.%3D,ENST00000310346,;	2191	87	112	SUCCESS
KCNC2	3747	.	GRCh37	12	75601373	75601373	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	429	210	531	0	ENST00000549446.1:c.391G>A	p.Gly131Arg	p.G131R	ENST00000549446	NM_001260497.1	131	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS9007.1	391	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCGCACA	NONE	.	.	Prints_domain:PR01498,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	.	.	ENSP00000449253	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000549446	Transcript	.	.	ENSG00000166006	6234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNC2_HUMAN	KCNC2	HGNC	.	.	UPI000004DB9B	SNV	KCNC2,missense_variant,p.Gly131Arg,ENST00000341669,;KCNC2,missense_variant,p.Gly131Arg,ENST00000393288,;KCNC2,missense_variant,p.Gly131Arg,ENST00000540018,;KCNC2,missense_variant,p.Gly131Arg,ENST00000548513,;KCNC2,missense_variant,p.Gly131Arg,ENST00000550433,;KCNC2,missense_variant,p.Gly131Arg,ENST00000298972,;KCNC2,missense_variant,p.Gly131Arg,ENST00000549446,;KCNC2,missense_variant,p.Gly131Arg,ENST00000350228,;	1072	532	639	SUCCESS
COL4A1	1282	.	GRCh37	13	110835346	110835346	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1395505056	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	92	0	ENST00000375820.4:c.2089C>T	p.Pro697Ser	p.P697S	ENST00000375820	NM_001845.4	697	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9511.1	2089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGGCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391	.	.	ENSP00000364979	.	28/52	.	.	.	.	.	.	.	.	.	28/52	PASS	ENST00000375820	Transcript	.	.	ENSG00000187498	2202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	SNV	COL4A1,missense_variant,p.Pro697Ser,ENST00000375820,;	2211	92	95	SUCCESS
RNF17	56163	.	GRCh37	13	25433158	25433158	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	24	104	0	ENST00000255324.5:c.3630G>T	p.Met1210Ile	p.M1210I	ENST00000255324	NM_031277.2	1210	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS9308.2	3630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGACAAA	NONE	.	.	hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748	.	.	ENSP00000255324	.	26/36	.	.	.	.	.	.	.	.	COSM1629027	26/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.708)	.	deleterious(0.01)	1	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,missense_variant,p.Met1210Ile,ENST00000255324,;RNF17,missense_variant,p.Met1210Ile,ENST00000381921,;RNF17,missense_variant,p.Met262Ile,ENST00000339524,;RNF17,missense_variant,p.Met534Ile,ENST00000418120,;	3682	104	125	SUCCESS
RTL1	388015	.	GRCh37	14	101349210	101349210	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	75	0	ENST00000534062.1:c.1916T>G	p.Met639Arg	p.M639R	ENST00000534062	NM_001134888.2	639	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS53910.1	1916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCATGTCC	NONE	.	.	Superfamily_domains:SSF56672	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,missense_variant,p.Met639Arg,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	1975	75	76	SUCCESS
MIR656	724026	.	GRCh37	14	101533134	101533134	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs371434052	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	43	0	ENST00000385224.1:n.74G>A		p.*25*	ENST00000385224				0	.	A:0	.	A:0	.	A	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATATCGAATCC	NONE	byFrequency|byCluster|by1000G	.	.	A:0.006	.	.	A:0	1/1	.	.	.	.	.	.	.	.	rs371434052	1/1	PASS	ENST00000385224	Transcript	.	A:0.0020	ENSG00000207959	32912	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.0041	.	.	.	MIR656	HGNC	.	.	.	SNV	MIR656,non_coding_transcript_exon_variant,,ENST00000385224,;MIR541,downstream_gene_variant,,ENST00000401360,;MEG9,upstream_gene_variant,,ENST00000554016,;MEG9,upstream_gene_variant,,ENST00000429368,;MIR409,downstream_gene_variant,,ENST00000362237,;MIR412,downstream_gene_variant,,ENST00000362142,;MIR369,downstream_gene_variant,,ENST00000362155,;MIR410,downstream_gene_variant,,ENST00000362222,;MIR377,downstream_gene_variant,,ENST00000362145,;	74	43	50	SUCCESS
IGHV3-38	28429	.	GRCh37	14	106866578	106866578	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	21	195	0	ENST00000390618.2:c.176C>A	p.Ala59Asp	p.A59D	ENST00000390618		59	gCt/gAt	0	.	.	.	.	.	T	A/D	IG_V_gene	YES	.	176	RADIA|MUTECT|MUSE	.	CTGGAGCCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375027	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390618	Transcript	.	.	ENSG00000211958	5601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.937)	.	deleterious_low_confidence(0)	.	.	IGHV3-38	HGNC	.	.	UPI0000F30366	SNV	IGHV3-38,missense_variant,p.Ala59Asp,ENST00000390618,;	254	195	165	SUCCESS
PSMB5	5693	.	GRCh37	14	23504068	23504068	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	19	106	0	ENST00000361611.6:c.23A>G	p.Glu8Gly	p.E8G	ENST00000361611	NM_002797.3	8	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS9584.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTCCAAC	NONE	.	.	hmmpanther:PTHR11599:SF51,hmmpanther:PTHR11599	.	.	ENSP00000355325	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000361611	Transcript	.	.	ENSG00000100804	9542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.48)	.	PSB5_HUMAN	PSMB5	HGNC	.	.	UPI000013C701	SNV	PSMB5,missense_variant,p.Glu8Gly,ENST00000361611,;PSMB5,missense_variant,p.Glu8Gly,ENST00000460922,;PSMB5,missense_variant,p.Glu8Gly,ENST00000493471,;PSMB5,intron_variant,,ENST00000425762,;PSMB5,upstream_gene_variant,,ENST00000555895,;AL132780.1,upstream_gene_variant,,ENST00000385031,;PSMB5,missense_variant,p.Glu8Gly,ENST00000334454,;	287	106	95	SUCCESS
SLC22A17	51310	.	GRCh37	14	23815958	23815958	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	73	0	ENST00000206544.8:c.1516C>T	p.Arg506Trp	p.R506W	ENST00000206544	NM_020372.2	506	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9593.1	1516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGGAGCA	NONE	.	.	hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216	.	.	ENSP00000380437	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000397267	Transcript	.	.	ENSG00000092096	23095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	S22AH_HUMAN	SLC22A17	HGNC	.	.	UPI0000126A49	SNV	SLC22A17,missense_variant,p.Arg488Trp,ENST00000354772,;SLC22A17,missense_variant,p.Arg506Trp,ENST00000206544,;SLC22A17,missense_variant,p.Arg506Trp,ENST00000397267,;SLC22A17,missense_variant,p.Arg377Trp,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,downstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000556803,;SLC22A17,downstream_gene_variant,,ENST00000557699,;	1979	73	57	SUCCESS
NOVA1	4857	.	GRCh37	14	26939542	26939542	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	51	0	ENST00000539517.2:c.519+1984T>G		p.*173*	ENST00000539517	NM_002515.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32061.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGATTAGA	NONE	.	.	.	.	.	ENSP00000438875	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,3_prime_UTR_variant,,ENST00000344429,;NOVA1,intron_variant,,ENST00000549146,;NOVA1,intron_variant,,ENST00000347476,;NOVA1,intron_variant,,ENST00000465357,;NOVA1,intron_variant,,ENST00000549571,;NOVA1,intron_variant,,ENST00000539517,;NOVA1,intron_variant,,ENST00000267422,;NOVA1,intron_variant,,ENST00000449198,;NOVA1,downstream_gene_variant,,ENST00000547619,;NOVA1,intron_variant,,ENST00000483536,;NOVA1,intron_variant,,ENST00000546546,;	.	51	67	SUCCESS
FOXG1	2290	.	GRCh37	14	29236983	29236983	+	synonymous_variant	Silent	SNP	G	G	A	rs764054659	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	65	354	0	ENST00000313071.4:c.498G>A	p.Gly166=	p.G166=	ENST00000313071	NM_005249.4	166	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9636.1	498	MUTECT|MUSE	.	GACGGGGAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	rs764054659,COSM234723	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,synonymous_variant,p.%3D,ENST00000313071,;FOXG1,synonymous_variant,p.%3D,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000399387,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	867	354	314	SUCCESS
ZBTB1	22890	.	GRCh37	14	64988788	64988796	+	inframe_deletion	In_Frame_Del	DEL	TATTTGATG	TATTTGATG	-	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	TATTTGATG	TATTTGATG	.	.	.	.	.	.	.	.	.	.	.	.	.	153	31	173	0	ENST00000554015.1:c.569_577del	p.Phe190_Val192del	p.F190_V192del	ENST00000554015		189	cTATTTGATGta/cta	0	.	.	.	.	.	-	LFDV/L	protein_coding	YES	CCDS45126.1	566-574	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCACTATTTGATGTATGT	NONE	.	.	hmmpanther:PTHR11389:SF326,hmmpanther:PTHR11389	.	.	ENSP00000378201	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394712	Transcript	.	.	ENSG00000126804	20259	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBTB1_HUMAN	ZBTB1	HGNC	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN	.	UPI00001FD6B2	deletion	ZBTB1,inframe_deletion,p.Phe190_Val192del,ENST00000394712,;ZBTB1,inframe_deletion,p.Phe190_Val192del,ENST00000554015,;ZBTB1,inframe_deletion,p.Phe190_Val192del,ENST00000358738,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;	957-965	173	184	SUCCESS
EML5	161436	.	GRCh37	14	89153622	89153622	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	54	271	0	ENST00000380664.5:c.2792C>A	p.Ser931Tyr	p.S931Y	ENST00000380664		931	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS45148.1	2792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGAGTCA	NONE	.	.	Superfamily_domains:SSF50998,Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	19/44	.	.	.	.	.	.	.	.	.	19/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	deleterious(0.05)	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Ser893Tyr,ENST00000352093,;EML5,missense_variant,p.Ser931Tyr,ENST00000554922,;EML5,missense_variant,p.Ser931Tyr,ENST00000380664,;EML5,3_prime_UTR_variant,,ENST00000553281,;	3041	271	271	SUCCESS
MYO1E	4643	.	GRCh37	15	59466403	59466403	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	69	0	ENST00000288235.4:c.2086G>C	p.Asp696His	p.D696H	ENST00000288235	NM_004998.3	696	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS32254.1	2086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCATACT	NONE	.	.	PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Superfamily_domains:SSF52540	.	.	ENSP00000288235	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	tolerated(0.25)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Asp187His,ENST00000560749,;MYO1E,missense_variant,p.Asp696His,ENST00000288235,;MYO1E,intron_variant,,ENST00000559269,;MIR2116,upstream_gene_variant,,ENST00000517221,;MYO1E,downstream_gene_variant,,ENST00000558182,;	2486	69	67	SUCCESS
MAN2C1	4123	.	GRCh37	15	75660853	75660889	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCGGCGACACGAACTTCTCCACCCGCTCCAGCGTG	GAGCGGCGACACGAACTTCTCCACCCGCTCCAGCGTG	-	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	GAGCGGCGACACGAACTTCTCCACCCGCTCCAGCGTG	GAGCGGCGACACGAACTTCTCCACCCGCTCCAGCGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	139	24	215	0	ENST00000267978.5:c.36_72del	p.Glu15ProfsTer23	p.E15Pfs*23	ENST00000267978	NM_006715.3	12	acCACGCTGGAGCGGGTGGAGAAGTTCGTGTCGCCGCTC/ac	0	.	.	.	.	.	-	TTLERVEKFVSPL/X	protein_coding	YES	CCDS58391.1	36-72	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAGTAGAGCGGCGACACGAACTTCTCCACCCGCTCCAGCGTGGTGCG	NONE	.	.	hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607	.	.	ENSP00000457788	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000565683	Transcript	.	.	ENSG00000140400	6827	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MA2C1_HUMAN	MAN2C1	HGNC	H3BRV3_HUMAN	.	UPI0000229CBC	deletion	MAN2C1,frameshift_variant,p.Glu15ProfsTer10,ENST00000566256,;MAN2C1,frameshift_variant,p.Glu15ProfsTer18,ENST00000568374,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000565683,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000561615,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000563622,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000267978,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000569482,;SIN3A,downstream_gene_variant,,ENST00000394949,;SIN3A,downstream_gene_variant,,ENST00000394947,;SIN3A,downstream_gene_variant,,ENST00000360439,;RP11-817O13.8,non_coding_transcript_exon_variant,,ENST00000563278,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563539,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000421803,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000565784,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000569355,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000562071,;MAN2C1,frameshift_variant,p.Glu15ProfsTer23,ENST00000566634,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565534,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565652,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,upstream_gene_variant,,ENST00000569069,;MAN2C1,upstream_gene_variant,,ENST00000565699,;SIN3A,downstream_gene_variant,,ENST00000566640,;MAN2C1,upstream_gene_variant,,ENST00000570257,;	48-84	215	163	SUCCESS
MCTP2	55784	.	GRCh37	15	94841718	94841718	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	69	0	ENST00000357742.4:c.224A>G	p.Tyr75Cys	p.Y75C	ENST00000357742	NM_018349.3	75	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32338.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTACACCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5	.	.	ENSP00000350377	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	tolerated(0.16)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Tyr75Cys,ENST00000357742,;MCTP2,missense_variant,p.Tyr75Cys,ENST00000451018,;MCTP2,missense_variant,p.Tyr75Cys,ENST00000543482,;MCTP2,5_prime_UTR_variant,,ENST00000331706,;MCTP2,non_coding_transcript_exon_variant,,ENST00000561608,;MCTP2,missense_variant,p.Tyr75Cys,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000556363,;	224	69	63	SUCCESS
SALL1	6299	.	GRCh37	16	51175368	51175368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	68	0	ENST00000251020.4:c.765G>T	p.Leu255Phe	p.L255F	ENST00000251020	NM_002968.2	255	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS10747.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCAATAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Leu255Phe,ENST00000251020,;SALL1,missense_variant,p.Leu158Phe,ENST00000570206,;SALL1,missense_variant,p.Leu158Phe,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	799	68	73	SUCCESS
GLG1	2734	.	GRCh37	16	74524981	74524981	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	9	149	0	ENST00000422840.2:c.1367A>T	p.His456Leu	p.H456L	ENST00000422840	NM_001145667.1	456	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS32485.1	1367	MUTECT|MUSE	.	TTCGATGTAAT	NONE	.	.	PROSITE_profiles:PS51289,hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF1,Pfam_domain:PF00839	.	.	ENSP00000205061	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000205061	Transcript	.	.	ENSG00000090863	4316	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.425)	.	tolerated(0.08)	.	GSLG1_HUMAN	GLG1	HGNC	Q6ZMF1_HUMAN,H3BQT1_HUMAN	.	UPI00001FFBD9	SNV	GLG1,missense_variant,p.His445Leu,ENST00000447066,;GLG1,missense_variant,p.His456Leu,ENST00000422840,;GLG1,missense_variant,p.His456Leu,ENST00000205061,;GLG1,missense_variant,p.His456Leu,ENST00000562090,;GLG1,intron_variant,,ENST00000567951,;	1387	149	172	SUCCESS
FAM222B	55731	.	GRCh37	17	27085738	27085738	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	38	0	ENST00000452648.3:c.1239A>C	p.Glu413Asp	p.E413D	ENST00000452648		413	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS45637.1	1239	MUTECT|MUSE|VARSCANS	.	CAGAGTTCCTG	NONE	.	.	hmmpanther:PTHR16070,hmmpanther:PTHR16070:SF1,Pfam_domain:PF15258	.	.	ENSP00000343115	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341217	Transcript	.	.	ENSG00000173065	25563	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.941)	.	tolerated(0.07)	.	F222B_HUMAN	FAM222B	HGNC	J3QRR9_HUMAN,J3QR32_HUMAN,J3QLP2_HUMAN,J3QKY8_HUMAN,B4DRX9_HUMAN	.	UPI000006F01C	SNV	FAM222B,missense_variant,p.Glu413Asp,ENST00000452648,;FAM222B,missense_variant,p.Glu413Asp,ENST00000581407,;FAM222B,missense_variant,p.Glu413Asp,ENST00000341217,;FAM222B,3_prime_UTR_variant,,ENST00000582266,;FAM222B,downstream_gene_variant,,ENST00000577376,;FAM222B,downstream_gene_variant,,ENST00000577682,;FAM222B,downstream_gene_variant,,ENST00000577513,;FAM222B,downstream_gene_variant,,ENST00000584059,;FAM222B,downstream_gene_variant,,ENST00000581229,;FAM222B,downstream_gene_variant,,ENST00000583522,;FAM222B,downstream_gene_variant,,ENST00000582059,;FAM222B,downstream_gene_variant,,ENST00000583307,;FAM222B,downstream_gene_variant,,ENST00000581381,;FAM222B,downstream_gene_variant,,ENST00000583953,;FAM222B,downstream_gene_variant,,ENST00000579381,;	1455	39	36	SUCCESS
OR1A1	8383	.	GRCh37	17	3118953	3118953	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763280963	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	92	0	ENST00000304094.1:c.39C>G	p.Ile13Met	p.I13M	ENST00000304094	NM_014565.2	13	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS11022.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCTCCT	NONE	byFrequency	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305207	.	1/1	.	.	.	.	.	.	.	.	rs763280963	1/1	PASS	ENST00000304094	Transcript	.	.	ENSG00000172146	8179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious(0.01)	.	OR1A1_HUMAN	OR1A1	HGNC	.	.	UPI000013E937	SNV	OR1A1,missense_variant,p.Ile13Met,ENST00000304094,;	39	92	68	SUCCESS
OR1E1	8387	.	GRCh37	17	3300817	3300817	+	synonymous_variant	Silent	SNP	G	G	A	rs774514315	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	42	154	1	ENST00000322608.2:c.888C>T	p.Asp296=	p.D296=	ENST00000322608	NM_003553.2	296	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS11024.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGTCTCT	NONE	byFrequency	.	hmmpanther:PTHR26451:SF137,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000313384	.	1/1	.	.	.	.	.	.	.	.	rs774514315	1/1	PASS	ENST00000322608	Transcript	.	.	ENSG00000180016	8189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1E1_HUMAN	OR1E1	HGNC	.	.	UPI0000041BB6	SNV	OR1E1,synonymous_variant,p.%3D,ENST00000322608,;	888	155	179	SUCCESS
COL1A1	1277	.	GRCh37	17	48263287	48263287	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	82	0	ENST00000225964.5:c.4100C>T	p.Thr1367Ile	p.T1367I	ENST00000225964	NM_000088.3	1367	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11561.1	4100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGGTGATG	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01410,SMART_domains:SM00038	.	.	ENSP00000225964	.	50/51	.	.	.	.	.	.	.	.	.	50/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,missense_variant,p.Thr1367Ile,ENST00000225964,;HILS1,upstream_gene_variant,,ENST00000504307,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000476387,;	4219	82	79	SUCCESS
CEP112	201134	.	GRCh37	17	63685338	63685338	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	22	81	0	ENST00000392769.2:c.2608-2A>T		p.X870_splice	ENST00000392769	NM_145036.3	870		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32710.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTGAAAC	NONE	.	.	.	.	.	ENSP00000376522	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392769	Transcript	.	.	ENSG00000154240	28514	.	.	HIGH	23/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE112_HUMAN	CEP112	HGNC	J3QQV3_HUMAN	.	UPI0000603C26	SNV	CEP112,splice_acceptor_variant,,ENST00000541355,;CEP112,splice_acceptor_variant,,ENST00000535342,;CEP112,splice_acceptor_variant,,ENST00000581739,;CEP112,splice_acceptor_variant,,ENST00000317442,;CEP112,splice_acceptor_variant,,ENST00000537949,;CEP112,splice_acceptor_variant,,ENST00000392769,;CEP112,splice_acceptor_variant,,ENST00000583466,;CEP112,splice_acceptor_variant,,ENST00000580694,;CEP112,splice_acceptor_variant,,ENST00000580482,;CEP112,splice_acceptor_variant,,ENST00000582795,;CEP112,splice_acceptor_variant,,ENST00000581734,;	.	81	106	SUCCESS
DSC1	1823	.	GRCh37	18	28720139	28720139	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	20	103	0	ENST00000257198.5:c.1386T>A	p.Ile462=	p.I462=	ENST00000257198	NM_024421.2	462	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11894.1	1386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATAATTTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF8,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000257198	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000257198	Transcript	.	.	ENSG00000134765	3035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSC1_HUMAN	DSC1	HGNC	.	.	UPI000006DF10	SNV	DSC1,synonymous_variant,p.%3D,ENST00000257198,;DSC1,synonymous_variant,p.%3D,ENST00000257197,;RP11-408H20.2,intron_variant,,ENST00000581836,;	1648	103	117	SUCCESS
TSPAN16	26526	.	GRCh37	19	11411928	11411928	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	22	126	0	ENST00000316737.1:c.394A>T	p.Arg132Ter	p.R132*	ENST00000316737	NM_012466.2	132	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS12256.1	394	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	ATTACAGAGGT	NONE	.	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF29,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000319486	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000316737	Transcript	.	.	ENSG00000130167	30725	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSN16_HUMAN	TSPAN16	HGNC	.	.	UPI000013706E	SNV	TSPAN16,stop_gained,p.Arg107Ter,ENST00000592955,;TSPAN16,stop_gained,p.Arg132Ter,ENST00000316737,;TSPAN16,stop_gained,p.Arg132Ter,ENST00000590327,;CTC-510F12.4,intron_variant,,ENST00000585801,;CTC-510F12.4,intron_variant,,ENST00000586356,;TSPAN16,stop_gained,p.Arg132Ter,ENST00000337994,;	544	126	140	SUCCESS
TSPAN16	26526	.	GRCh37	19	11411929	11411929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	22	128	0	ENST00000316737.1:c.395G>T	p.Arg132Ile	p.R132I	ENST00000316737	NM_012466.2	132	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS12256.1	395	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTACAGAGGTT	NONE	.	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF29,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000319486	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000316737	Transcript	.	.	ENSG00000130167	30725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.827)	.	deleterious(0.01)	.	TSN16_HUMAN	TSPAN16	HGNC	.	.	UPI000013706E	SNV	TSPAN16,missense_variant,p.Arg107Ile,ENST00000592955,;TSPAN16,missense_variant,p.Arg132Ile,ENST00000316737,;TSPAN16,missense_variant,p.Arg132Ile,ENST00000590327,;CTC-510F12.4,intron_variant,,ENST00000585801,;CTC-510F12.4,intron_variant,,ENST00000586356,;TSPAN16,missense_variant,p.Arg132Ile,ENST00000337994,;	545	128	139	SUCCESS
TSPAN16	26526	.	GRCh37	19	11411930	11411930	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	24	132	0	ENST00000316737.1:c.396A>T	p.Arg132Ser	p.R132S	ENST00000316737	NM_012466.2	132	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS12256.1	396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGAGGTTA	NONE	.	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF29,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000319486	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000316737	Transcript	.	.	ENSG00000130167	30725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.455)	.	tolerated(0.09)	.	TSN16_HUMAN	TSPAN16	HGNC	.	.	UPI000013706E	SNV	TSPAN16,missense_variant,p.Arg107Ser,ENST00000592955,;TSPAN16,missense_variant,p.Arg132Ser,ENST00000316737,;TSPAN16,missense_variant,p.Arg132Ser,ENST00000590327,;CTC-510F12.4,intron_variant,,ENST00000585801,;CTC-510F12.4,intron_variant,,ENST00000586356,;TSPAN16,missense_variant,p.Arg132Ser,ENST00000337994,;	546	132	143	SUCCESS
DPP9	91039	.	GRCh37	19	4682753	4682753	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs376453990	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	73	0	ENST00000598800.1:c.2342A>G	p.Tyr781Cys	p.Y781C	ENST00000598800		781	tAt/tGt	0	C:0.0002	.	.	.	.	C	Y/C	protein_coding	YES	CCDS45928.1	2429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATAGCCG	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Gene3D:3.40.50.1820,Pfam_domain:PF00326,Superfamily_domains:SSF53474	.	C:0	ENSP00000262960	.	20/22	.	.	.	.	.	.	.	.	rs376453990	20/22	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,missense_variant,p.Tyr810Cys,ENST00000262960,;DPP9,missense_variant,p.Tyr781Cys,ENST00000598800,;DPP9,missense_variant,p.Tyr781Cys,ENST00000594671,;DPP9,intron_variant,,ENST00000601720,;DPP9,downstream_gene_variant,,ENST00000595327,;AC005594.3,intron_variant,,ENST00000381796,;DPP9,downstream_gene_variant,,ENST00000601173,;DPP9,3_prime_UTR_variant,,ENST00000597900,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;	2707	73	64	SUCCESS
ZC3H4	23211	.	GRCh37	19	47575379	47575379	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	36	0	ENST00000253048.5:c.1803-1G>C		p.X601_splice	ENST00000253048	NM_015168.1	601		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42582.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTAGAA	NONE	.	.	.	.	.	ENSP00000253048	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000253048	Transcript	.	.	ENSG00000130749	17808	.	.	HIGH	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3H4_HUMAN	ZC3H4	HGNC	.	.	UPI00001C2000	SNV	ZC3H4,splice_acceptor_variant,,ENST00000253048,;ZC3H4,splice_acceptor_variant,,ENST00000601973,;ZC3H4,intron_variant,,ENST00000594019,;	.	36	33	SUCCESS
ZNF836	162962	.	GRCh37	19	52659296	52659296	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	28	131	0	ENST00000597252.1:c.1640T>A	p.Ile547Asn	p.I547N	ENST00000597252		547	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS46162.1	1640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAATTCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF229,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000325038	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000322146	Transcript	.	.	ENSG00000196267	34333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	ZN836_HUMAN	ZNF836	HGNC	M0QZ88_HUMAN,M0QYS4_HUMAN	.	UPI00001D818C	SNV	ZNF836,missense_variant,p.Ile547Asn,ENST00000597252,;ZNF836,missense_variant,p.Ile547Asn,ENST00000322146,;ZNF836,downstream_gene_variant,,ENST00000596428,;ZNF836,downstream_gene_variant,,ENST00000597065,;CTC-471J1.8,intron_variant,,ENST00000598982,;CTC-471J1.8,intron_variant,,ENST00000594362,;ZNF836,upstream_gene_variant,,ENST00000599618,;	2162	131	129	SUCCESS
USP29	57663	.	GRCh37	19	57641665	57641665	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	22	97	0	ENST00000254181.4:c.1622G>A	p.Cys541Tyr	p.C541Y	ENST00000254181	NM_020903.2	541	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS33124.1	1622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTGCAATG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000254181	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254181	Transcript	.	.	ENSG00000131864	18563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UBP29_HUMAN	USP29	HGNC	M0QZL0_HUMAN,A1L447_HUMAN	.	UPI0000137A01	SNV	USP29,missense_variant,p.Cys541Tyr,ENST00000598197,;USP29,missense_variant,p.Cys541Tyr,ENST00000254181,;USP29,downstream_gene_variant,,ENST00000600940,;ZIM3,downstream_gene_variant,,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;	2076	97	94	SUCCESS
MUC16	94025	.	GRCh37	19	9063485	9063485	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	97	0	ENST00000397910.4:c.23961C>A	p.Ser7987=	p.S7987=	ENST00000397910	NM_024690.2	7987	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54212.1	23961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGGAAAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	24165	97	107	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144857701	144857701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	95	0	ENST00000369354.3:c.6353A>G	p.Asp2118Gly	p.D2118G	ENST00000369354		2118	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS55627.1	6353	MUTECT|MUSE|VARSCANS	.	CAACATCCCGG	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	39/44	.	.	.	.	.	.	.	.	.	39/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.Asp2118Gly,ENST00000369356,;PDE4DIP,missense_variant,p.Asp2118Gly,ENST00000369354,;PDE4DIP,missense_variant,p.Asp2254Gly,ENST00000369359,;PDE4DIP,missense_variant,p.Asp195Gly,ENST00000530130,;PDE4DIP,missense_variant,p.Asp2203Gly,ENST00000530740,;PDE4DIP,missense_variant,p.Asp2012Gly,ENST00000313382,;RP4-791M13.4,upstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000531417,;PDE4DIP,upstream_gene_variant,,ENST00000526182,;PDE4DIP,upstream_gene_variant,,ENST00000525630,;PDE4DIP,upstream_gene_variant,,ENST00000460027,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530062,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000534466,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000534367,;PDE4DIP,upstream_gene_variant,,ENST00000533768,;PDE4DIP,upstream_gene_variant,,ENST00000524688,;PDE4DIP,downstream_gene_variant,,ENST00000481227,;PDE4DIP,upstream_gene_variant,,ENST00000464924,;	6644	95	110	SUCCESS
LCE3E	353145	.	GRCh37	1	152538510	152538510	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199901484	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	43	197	0	ENST00000368789.1:c.175C>T	p.Arg59Cys	p.R59C	ENST00000368789	NM_178435.3	59	Cgc/Tgc	0	A:0	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS1013.1	175	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGCCTGT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF43,hmmpanther:PTHR23263,Pfam_domain:PF14672	A:0	A:0.0001	ENSP00000357778	A:0.002	2/2	.	.	.	.	.	.	.	.	rs199901484	2/2	PASS	ENST00000368789	Transcript	.	A:0.0004	ENSG00000185966	29463	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	A:0	tolerated_low_confidence(0.08)	.	LCE3E_HUMAN	LCE3E	HGNC	.	.	UPI00001927D0	SNV	LCE3E,missense_variant,p.Arg59Cys,ENST00000368789,;	231	197	293	SUCCESS
SYT11	23208	.	GRCh37	1	155851003	155851003	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	130	227	0	ENST00000368324.4:c.1000G>T	p.Val334Leu	p.V334L	ENST00000368324	NM_152280.4	334	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1122.1	1000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTGAAC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF115,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000357307	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368324	Transcript	.	.	ENSG00000132718	19239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.09)	.	SYT11_HUMAN	SYT11	HGNC	B4DK40_HUMAN	.	UPI00002049CC	SNV	SYT11,missense_variant,p.Val27Leu,ENST00000539162,;SYT11,missense_variant,p.Val334Leu,ENST00000368324,;	1253	227	290	SUCCESS
KIAA0907	0	.	GRCh37	1	155891652	155891652	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	489	84	427	0	ENST00000368321.3:c.1012G>A	p.Gly338Ser	p.G338S	ENST00000368321	NM_014949.2	338	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS30885.1	1012	RADIA|MUTECT|MUSE|VARSCANS	.	CACACCTGGTA	NONE	.	.	hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0	.	.	ENSP00000357304	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000368321	Transcript	.	.	ENSG00000132680	29145	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0.03)	.	K0907_HUMAN	KIAA0907	HGNC	.	.	UPI00001A36E0	SNV	KIAA0907,missense_variant,p.Gly338Ser,ENST00000368320,;KIAA0907,missense_variant,p.Gly338Ser,ENST00000368321,;KIAA0907,missense_variant,p.Ala338Thr,ENST00000368319,;SCARNA4,downstream_gene_variant,,ENST00000516999,;SNORA42,upstream_gene_variant,,ENST00000384744,;KIAA0907,splice_region_variant,,ENST00000482337,;KIAA0907,splice_region_variant,,ENST00000483237,;KIAA0907,splice_region_variant,,ENST00000478002,;KIAA0907,downstream_gene_variant,,ENST00000466713,;KIAA0907,upstream_gene_variant,,ENST00000465953,;KIAA0907,upstream_gene_variant,,ENST00000466520,;	1036	427	573	SUCCESS
UBQLN4	56893	.	GRCh37	1	156021615	156021615	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	13	61	0	ENST00000368309.3:c.142C>T	p.Gln48Ter	p.Q48*	ENST00000368309	NM_020131.3	48	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1127.1	142	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGAGCCT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10677:SF20,hmmpanther:PTHR10677,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000357292	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000368309	Transcript	.	.	ENSG00000160803	1237	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBQL4_HUMAN	UBQLN4	HGNC	.	.	UPI000013E0AB	SNV	UBQLN4,stop_gained,p.Gln48Ter,ENST00000368309,;LAMTOR2,upstream_gene_variant,,ENST00000368302,;LAMTOR2,upstream_gene_variant,,ENST00000368305,;LAMTOR2,upstream_gene_variant,,ENST00000368304,;UBQLN4,non_coding_transcript_exon_variant,,ENST00000472638,;LAMTOR2,upstream_gene_variant,,ENST00000463371,;LAMTOR2,upstream_gene_variant,,ENST00000489664,;LAMTOR2,upstream_gene_variant,,ENST00000487106,;	235	61	137	SUCCESS
FCRL5	83416	.	GRCh37	1	157497415	157497415	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750656356	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	26	87	0	ENST00000361835.3:c.1952G>T	p.Ser651Ile	p.S651I	ENST00000361835	NM_001195388.1	651	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS1165.1	1952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACACTGAGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	9/17	.	.	.	.	.	.	.	.	rs750656356	9/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.04)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Ser651Ile,ENST00000361835,;FCRL5,missense_variant,p.Ser651Ile,ENST00000368190,;FCRL5,missense_variant,p.Ser651Ile,ENST00000356953,;FCRL5,missense_variant,p.Ser566Ile,ENST00000368191,;FCRL5,downstream_gene_variant,,ENST00000368189,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	2110	87	144	SUCCESS
FCRL1	115350	.	GRCh37	1	157765893	157765893	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1425178243	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	17	108	0	ENST00000368176.3:c.1286T>C	p.Met429Thr	p.M429T	ENST00000368176	NM_001159398.1	429	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS1170.1	1286	MUTECT|MUSE|VARSCANS	.	CTTACATAGCA	NONE	.	.	.	.	.	ENSP00000357158	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	.	deleterious(0)	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Met429Thr,ENST00000368176,;FCRL1,missense_variant,p.Met428Thr,ENST00000491942,;FCRL1,3_prime_UTR_variant,,ENST00000358292,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000495126,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;	1354	108	181	SUCCESS
CASP9	842	.	GRCh37	1	15820444	15820444	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	20	0	ENST00000333868.5:c.1101G>T	p.Leu367=	p.L367=	ENST00000333868		367	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS158.1	1101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCCAGGGT	NONE	.	.	PROSITE_profiles:PS50207,hmmpanther:PTHR10454,Pfam_domain:PF00656,Gene3D:3.40.50.1460,PIRSF_domain:PIRSF038001,SMART_domains:SM00115,Superfamily_domains:SSF52129	.	.	ENSP00000330237	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000333868	Transcript	.	.	ENSG00000132906	1511	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASP9_HUMAN	CASP9	HGNC	Q5JRU2_HUMAN	.	UPI000012D14F	SNV	CASP9,synonymous_variant,p.%3D,ENST00000348549,;CASP9,synonymous_variant,p.%3D,ENST00000333868,;CASP9,synonymous_variant,p.%3D,ENST00000546424,;CASP9,synonymous_variant,p.%3D,ENST00000375890,;CASP9,synonymous_variant,p.%3D,ENST00000424908,;CASP9,downstream_gene_variant,,ENST00000447522,;CELA2B,downstream_gene_variant,,ENST00000375910,;CELA2B,downstream_gene_variant,,ENST00000488764,;CASP9,3_prime_UTR_variant,,ENST00000400777,;CASP9,3_prime_UTR_variant,,ENST00000474305,;	1196	20	24	SUCCESS
NR1I3	9970	.	GRCh37	1	161200931	161200931	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	22	125	0	ENST00000367982.4:c.799G>C	p.Ala267Pro	p.A267P	ENST00000367982		267	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS41429.1	799	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCAAGA	NONE	.	.	Prints_domain:PR00398,Superfamily_domains:SSF48508,SMART_domains:SM00430,Pfam_domain:PF00104,Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231	.	.	ENSP00000356959	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000367980	Transcript	.	.	ENSG00000143257	7969	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	tolerated(0.09)	.	NR1I3_HUMAN	NR1I3	HGNC	F1DAL4_HUMAN	.	UPI00003E7F93	SNV	NR1I3,missense_variant,p.Ala234Pro,ENST00000511676,;NR1I3,missense_variant,p.Ala234Pro,ENST00000367981,;NR1I3,missense_variant,p.Ala188Pro,ENST00000515621,;NR1I3,missense_variant,p.Ala234Pro,ENST00000506209,;NR1I3,missense_variant,p.Ala267Pro,ENST00000367979,;NR1I3,missense_variant,p.Ala234Pro,ENST00000508740,;NR1I3,missense_variant,p.Ala263Pro,ENST00000367983,;NR1I3,missense_variant,p.Ala267Pro,ENST00000442691,;NR1I3,missense_variant,p.Ala238Pro,ENST00000412844,;NR1I3,missense_variant,p.Ala263Pro,ENST00000428574,;NR1I3,missense_variant,p.Ala267Pro,ENST00000367982,;NR1I3,missense_variant,p.Ala267Pro,ENST00000367980,;NR1I3,missense_variant,p.Ala234Pro,ENST00000437437,;NR1I3,intron_variant,,ENST00000512372,;NR1I3,intron_variant,,ENST00000367985,;NR1I3,intron_variant,,ENST00000367984,;NR1I3,intron_variant,,ENST00000502985,;NR1I3,intron_variant,,ENST00000511944,;NR1I3,intron_variant,,ENST00000504010,;NR1I3,intron_variant,,ENST00000511748,;NR1I3,intron_variant,,ENST00000505005,;NR1I3,intron_variant,,ENST00000508387,;TOMM40L,downstream_gene_variant,,ENST00000545897,;TOMM40L,downstream_gene_variant,,ENST00000367987,;TOMM40L,downstream_gene_variant,,ENST00000367988,;NR1I3,downstream_gene_variant,,ENST00000515452,;MIR5187,downstream_gene_variant,,ENST00000583479,;NR1I3,non_coding_transcript_exon_variant,,ENST00000464422,;NR1I3,non_coding_transcript_exon_variant,,ENST00000479324,;NR1I3,intron_variant,,ENST00000488651,;TOMM40L,downstream_gene_variant,,ENST00000474486,;TOMM40L,downstream_gene_variant,,ENST00000470426,;NR1I3,downstream_gene_variant,,ENST00000503547,;TOMM40L,downstream_gene_variant,,ENST00000468803,;TOMM40L,downstream_gene_variant,,ENST00000492482,;TOMM40L,downstream_gene_variant,,ENST00000465512,;TOMM40L,downstream_gene_variant,,ENST00000475793,;NR1I3,missense_variant,p.Ala238Pro,ENST00000506018,;NR1I3,3_prime_UTR_variant,,ENST00000512340,;NR1I3,non_coding_transcript_exon_variant,,ENST00000505944,;NR1I3,intron_variant,,ENST00000510951,;NR1I3,intron_variant,,ENST00000502848,;NR1I3,intron_variant,,ENST00000507215,;NR1I3,downstream_gene_variant,,ENST00000491193,;	1002	125	159	SUCCESS
RFWD2	0	.	GRCh37	1	175958611	175958611	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770747539	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	87	0	ENST00000367669.3:c.1734C>G	p.His578Gln	p.H578Q	ENST00000367669	NM_022457.5	578	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS30944.1	1734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGTGATC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356641	.	16/20	.	.	.	.	.	.	.	.	rs770747539,COSM1601271	16/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.His554Gln,ENST00000308769,;RFWD2,missense_variant,p.His413Gln,ENST00000367666,;RFWD2,missense_variant,p.His578Gln,ENST00000367669,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2249	87	105	SUCCESS
C4BPB	725	.	GRCh37	1	207262708	207262708	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	25	0	ENST00000243611.5:c.-169T>G		p.*57*	ENST00000243611	NM_000716.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1476.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGTAAGAT	NONE	.	.	.	.	.	ENSP00000243611	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000243611	Transcript	.	.	ENSG00000123843	1328	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C4BPB_HUMAN	C4BPB	HGNC	Q5VVQ7_HUMAN	.	UPI0000126C25	SNV	C4BPB,splice_donor_variant,,ENST00000391923,;C4BPB,splice_donor_variant,,ENST00000452902,;C4BPB,5_prime_UTR_variant,,ENST00000367076,;C4BPB,5_prime_UTR_variant,,ENST00000243611,;C4BPB,intron_variant,,ENST00000367078,;C4BPB,upstream_gene_variant,,ENST00000451804,;C4BPB,intron_variant,,ENST00000492730,;	126	25	43	SUCCESS
RYR2	6262	.	GRCh37	1	237754162	237754162	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	21	132	0	ENST00000366574.2:c.4030G>A	p.Glu1344Lys	p.E1344K	ENST00000366574	NM_001035.2	1344	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55691.1	4030	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGAGGTT	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000355533	.	31/105	.	.	.	.	.	.	.	.	.	31/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Glu1328Lys,ENST00000542537,;RYR2,missense_variant,p.Glu1344Lys,ENST00000366574,;RYR2,missense_variant,p.Glu1342Lys,ENST00000360064,;	4347	132	172	SUCCESS
FMN2	56776	.	GRCh37	1	240370837	240370837	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	20	125	0	ENST00000319653.9:c.2725C>T	p.Pro909Ser	p.P909S	ENST00000319653	NM_020066.4	909	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS31069.2	2725	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCCACCC	BUFFER|p.P1054fs*364|c.3157delC|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,SMART_domains:SM00498,Prints_domain:PR01217	.	.	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	COSM1502037	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	.	1	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Pro909Ser,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	2955	125	122	SUCCESS
SDCCAG8	10806	.	GRCh37	1	243589807	243589807	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	661	145	571	1	ENST00000366541.3:c.1932A>C	p.Glu644Asp	p.E644D	ENST00000366541	NM_006642.3	644	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS31075.1	1932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAATTGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000355499	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000366541	Transcript	.	.	ENSG00000054282	10671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	tolerated(0.07)	.	SDCG8_HUMAN	SDCCAG8	HGNC	A6NCS9_HUMAN	.	UPI000000D77E	SNV	SDCCAG8,missense_variant,p.Glu601Asp,ENST00000355875,;SDCCAG8,missense_variant,p.Glu499Asp,ENST00000343783,;SDCCAG8,missense_variant,p.Glu345Asp,ENST00000435549,;SDCCAG8,missense_variant,p.Glu644Asp,ENST00000366541,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000463042,;	2050	572	807	SUCCESS
KIF26B	55083	.	GRCh37	1	245775173	245775173	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1321001510	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	20	93	0	ENST00000407071.2:c.1993A>G	p.Arg665Gly	p.R665G	ENST00000407071	NM_018012.3	665	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS44342.1	1993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCAGGAGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000385545	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.38)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Arg665Gly,ENST00000407071,;KIF26B,missense_variant,p.Arg284Gly,ENST00000366518,;RP11-522M21.2,downstream_gene_variant,,ENST00000418402,;	2433	93	123	SUCCESS
KIF26B	55083	.	GRCh37	1	245848850	245848850	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	13	180	0	ENST00000407071.2:c.2565C>A	p.Ser855=	p.S855=	ENST00000407071	NM_018012.3	855	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS44342.1	2565	MUTECT|MUSE	.	TACTCCTCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	3005	180	202	SUCCESS
ARID1A	8289	.	GRCh37	1	27102134	27102134	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	21	64	0	ENST00000324856.7:c.5060del	p.Ala1687AspfsTer2	p.A1687Dfs*2	ENST00000324856	NM_006015.4	1687	gCa/ga	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS285.1	5060	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGGGCATTAG	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Ala1470AspfsTer2,ENST00000457599,;ARID1A,frameshift_variant,p.Ala1304AspfsTer2,ENST00000374152,;ARID1A,frameshift_variant,p.Ala584AspfsTer2,ENST00000430799,;ARID1A,frameshift_variant,p.Ala15AspfsTer2,ENST00000540690,;ARID1A,frameshift_variant,p.Ala1687AspfsTer2,ENST00000324856,;ARID1A,frameshift_variant,p.Ala140AspfsTer2,ENST00000532781,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;	5431	64	129	SUCCESS
SH3D21	79729	.	GRCh37	1	36786280	36786280	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	36	206	0	ENST00000453908.2:c.2016C>T	p.Leu672=	p.L672=	ENST00000453908	NM_001162530.1	672	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS53298.1	2016	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCCCCTC	NONE	.	.	hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF20	.	.	ENSP00000403476	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000453908	Transcript	.	.	ENSG00000214193	26236	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SH321_HUMAN	SH3D21	HGNC	B5MDU9_HUMAN	.	UPI0000EE3027	SNV	SH3D21,synonymous_variant,p.%3D,ENST00000505871,;SH3D21,synonymous_variant,p.%3D,ENST00000426732,;SH3D21,synonymous_variant,p.%3D,ENST00000312808,;SH3D21,synonymous_variant,p.%3D,ENST00000453908,;RP11-268J15.5,upstream_gene_variant,,ENST00000373137,;SH3D21,downstream_gene_variant,,ENST00000373139,;EVA1B,downstream_gene_variant,,ENST00000270824,;SH3D21,non_coding_transcript_exon_variant,,ENST00000474766,;SH3D21,non_coding_transcript_exon_variant,,ENST00000508854,;EVA1B,downstream_gene_variant,,ENST00000490466,;SH3D21,3_prime_UTR_variant,,ENST00000480549,;	2044	206	192	SUCCESS
ZC3H12A	80149	.	GRCh37	1	37947212	37947212	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	10	97	0	ENST00000373087.6:c.595del	p.Leu199CysfsTer32	p.L199Cfs*32	ENST00000373087	NM_025079.2	198	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS417.1	594	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACATCCTGCG	NONE	.	.	Pfam_domain:PF11977,hmmpanther:PTHR12876:SF10,hmmpanther:PTHR12876	.	.	ENSP00000362179	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000373087	Transcript	.	.	ENSG00000163874	26259	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZC12A_HUMAN	ZC3H12A	HGNC	C0LED9_HUMAN	.	UPI000004D30E	deletion	ZC3H12A,frameshift_variant,p.Leu199CysfsTer32,ENST00000373087,;ZC3H12A,upstream_gene_variant,,ENST00000471012,;ZC3H12A,non_coding_transcript_exon_variant,,ENST00000472312,;	710	97	79	SUCCESS
FHL3	2275	.	GRCh37	1	38463418	38463418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	27	128	0	ENST00000373016.3:c.626G>A	p.Cys209Tyr	p.C209Y	ENST00000373016	NM_001243878.1	209	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS30678.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACAGTAG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF5,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000362107	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000373016	Transcript	.	.	ENSG00000183386	3704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	FHL3_HUMAN	FHL3	HGNC	Q96C98_HUMAN	.	UPI0000070486	SNV	FHL3,missense_variant,p.Cys209Tyr,ENST00000373016,;FHL3,non_coding_transcript_exon_variant,,ENST00000485803,;FHL3,non_coding_transcript_exon_variant,,ENST00000477194,;FHL3,non_coding_transcript_exon_variant,,ENST00000475084,;FHL3,downstream_gene_variant,,ENST00000483132,;	795	128	118	SUCCESS
SLC2A5	6518	.	GRCh37	1	9101590	9101590	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	16	0	ENST00000377424.4:c.571+254G>A		p.*191*	ENST00000377424	NM_003039.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS99.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCCATCA	NONE	.	.	.	.	.	ENSP00000366641	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377424	Transcript	.	.	ENSG00000142583	11010	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR5_HUMAN	SLC2A5	HGNC	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN	.	UPI00000532AC	SNV	SLC2A5,3_prime_UTR_variant,,ENST00000377414,;SLC2A5,intron_variant,,ENST00000377424,;SLC2A5,intron_variant,,ENST00000536305,;SLC2A5,intron_variant,,ENST00000535586,;SLC2A5,downstream_gene_variant,,ENST00000487835,;SLC2A5,downstream_gene_variant,,ENST00000484798,;SLC2A5,downstream_gene_variant,,ENST00000479813,;SLC2A5,downstream_gene_variant,,ENST00000474145,;SLC2A5,downstream_gene_variant,,ENST00000486632,;SLC2A5,upstream_gene_variant,,ENST00000487492,;	.	16	28	SUCCESS
CPNE1	8904	.	GRCh37	20	34218877	34218877	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs138805916	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	29	140	0	ENST00000352393.4:c.941A>G	p.Asn314Ser	p.N314S	ENST00000352393		314	aAt/aGt	0	C:0.0009	.	.	.	.	C	N/S	protein_coding	YES	CCDS46595.1	956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCATTGACC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF07002,hmmpanther:PTHR10857:SF2,hmmpanther:PTHR10857	.	C:0.0002	ENSP00000317257	.	11/16	.	.	.	.	.	.	.	.	rs138805916	11/16	PASS	ENST00000317677	Transcript	.	.	ENSG00000214078	2314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	deleterious(0.04)	.	.	CPNE1	HGNC	Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN,B0QZ18_HUMAN	.	UPI0000D4B36B	SNV	CPNE1,missense_variant,p.Asn314Ser,ENST00000352393,;CPNE1,missense_variant,p.Asn314Ser,ENST00000397443,;CPNE1,missense_variant,p.Asn319Ser,ENST00000317677,;CPNE1,missense_variant,p.Asn314Ser,ENST00000397442,;CPNE1,missense_variant,p.Asn290Ser,ENST00000412056,;CPNE1,missense_variant,p.Asn314Ser,ENST00000317619,;CPNE1,missense_variant,p.Asn290Ser,ENST00000430570,;CPNE1,missense_variant,p.Asn314Ser,ENST00000437340,;CPNE1,missense_variant,p.Asn314Ser,ENST00000397445,;CPNE1,missense_variant,p.Asn314Ser,ENST00000397446,;CPNE1,upstream_gene_variant,,ENST00000415920,;CPNE1,downstream_gene_variant,,ENST00000414711,;CPNE1,downstream_gene_variant,,ENST00000458038,;CPNE1,downstream_gene_variant,,ENST00000434795,;CPNE1,downstream_gene_variant,,ENST00000440240,;CPNE1,downstream_gene_variant,,ENST00000416778,;CPNE1,downstream_gene_variant,,ENST00000435747,;CPNE1,downstream_gene_variant,,ENST00000420363,;CPNE1,downstream_gene_variant,,ENST00000439806,;CPNE1,downstream_gene_variant,,ENST00000414664,;CPNE1,downstream_gene_variant,,ENST00000437100,;CPNE1,upstream_gene_variant,,ENST00000498056,;CPNE1,upstream_gene_variant,,ENST00000462352,;CPNE1,upstream_gene_variant,,ENST00000498814,;CPNE1,missense_variant,p.Asn314Ser,ENST00000401607,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483495,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;RP1-309K20.6,downstream_gene_variant,,ENST00000541176,;RP1-309K20.6,downstream_gene_variant,,ENST00000454607,;CPNE1,upstream_gene_variant,,ENST00000473373,;CPNE1,downstream_gene_variant,,ENST00000486021,;CPNE1,downstream_gene_variant,,ENST00000439669,;RP1-309K20.6,downstream_gene_variant,,ENST00000441563,;	1091	140	134	SUCCESS
CSNK2A1	1457	.	GRCh37	20	489229	489229	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	24	90	1	ENST00000217244.3:c.-34A>G		p.*12*	ENST00000217244	NM_177559.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13003.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGATGTTTG	NONE	.	.	.	.	.	ENSP00000217244	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000217244	Transcript	.	.	ENSG00000101266	2457	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSK21_HUMAN	CSNK2A1	HGNC	.	.	UPI0000000CB5	SNV	CSNK2A1,5_prime_UTR_variant,,ENST00000349736,;CSNK2A1,5_prime_UTR_variant,,ENST00000400227,;CSNK2A1,5_prime_UTR_variant,,ENST00000609525,;CSNK2A1,5_prime_UTR_variant,,ENST00000608066,;CSNK2A1,5_prime_UTR_variant,,ENST00000217244,;CSNK2A1,intron_variant,,ENST00000460062,;CSNK2A1,intron_variant,,ENST00000400217,;CSNK2A1,non_coding_transcript_exon_variant,,ENST00000609606,;CSNK2A1,upstream_gene_variant,,ENST00000608490,;	343	91	107	SUCCESS
TMPRSS6	164656	.	GRCh37	22	37462176	37462176	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776040622	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	27	137	0	ENST00000346753.3:c.2380G>A	p.Gly794Ser	p.G794S	ENST00000346753	NM_153609.2	794	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13941.1	2380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCCGAAGT	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,PIRSF_domain:PIRSF037135,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96,PROSITE_profiles:PS50240	.	.	ENSP00000334962	.	18/18	.	.	.	.	.	.	.	.	rs776040622	18/18	PASS	ENST00000346753	Transcript	.	.	ENSG00000187045	16517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMPS6_HUMAN	TMPRSS6	HGNC	B0QYB6_HUMAN	.	UPI00000747C8	SNV	TMPRSS6,missense_variant,p.Gly785Ser,ENST00000406725,;TMPRSS6,missense_variant,p.Gly794Ser,ENST00000346753,;TMPRSS6,missense_variant,p.Gly807Ser,ENST00000381792,;TMPRSS6,missense_variant,p.Gly807Ser,ENST00000406856,;KCTD17,downstream_gene_variant,,ENST00000403888,;KCTD17,downstream_gene_variant,,ENST00000402077,;KCTD17,downstream_gene_variant,,ENST00000456470,;KCTD17,downstream_gene_variant,,ENST00000462640,;KCTD17,downstream_gene_variant,,ENST00000478231,;	2497	138	124	SUCCESS
TMPRSS6	164656	.	GRCh37	22	37482384	37482384	+	synonymous_variant	Silent	SNP	C	C	T	rs1216581105	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	65	246	0	ENST00000346753.3:c.939G>A	p.Lys313=	p.K313=	ENST00000346753	NM_153609.2	313	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS13941.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTCTTCCA	BUFFER|p.V311I|c.931G>A|4,BUFFER|p.V311I|c.931G>A|4	.	.	Superfamily_domains:SSF49854,PIRSF_domain:PIRSF037135,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96	.	.	ENSP00000334962	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000346753	Transcript	.	.	ENSG00000187045	16517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS6_HUMAN	TMPRSS6	HGNC	B0QYB6_HUMAN	.	UPI00000747C8	SNV	TMPRSS6,synonymous_variant,p.%3D,ENST00000406725,;TMPRSS6,synonymous_variant,p.%3D,ENST00000406856,;TMPRSS6,synonymous_variant,p.%3D,ENST00000346753,;TMPRSS6,synonymous_variant,p.%3D,ENST00000381792,;TMPRSS6,synonymous_variant,p.%3D,ENST00000442782,;TMPRSS6,upstream_gene_variant,,ENST00000429068,;RP5-1170K4.7,downstream_gene_variant,,ENST00000414203,;	1056	246	267	SUCCESS
EP300	2033	.	GRCh37	22	41574171	41574171	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	33	159	0	ENST00000263253.7:c.6456G>A	p.Gln2152=	p.Q2152=	ENST00000263253	NM_001429.3	2152	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS14010.1	6456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCAACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,synonymous_variant,p.%3D,ENST00000263253,;RP1-85F18.5,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;	7675	159	143	SUCCESS
EPB41L5	57669	.	GRCh37	2	120922447	120922447	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	71	252	0	ENST00000263713.5:c.1923T>C	p.Ser641=	p.S641=	ENST00000263713	NM_020909.3	641	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2130.1	1923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCTCTAAC	NONE	.	.	hmmpanther:PTHR23280:SF15,hmmpanther:PTHR23280	.	.	ENSP00000263713	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000263713	Transcript	.	.	ENSG00000115109	19819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41L5_HUMAN	EPB41L5	HGNC	Q53RT1_HUMAN,Q4ZG32_HUMAN	.	UPI00001B078A	SNV	EPB41L5,synonymous_variant,p.%3D,ENST00000443902,;EPB41L5,synonymous_variant,p.%3D,ENST00000263713,;EPB41L5,synonymous_variant,p.%3D,ENST00000452780,;EPB41L5,non_coding_transcript_exon_variant,,ENST00000488691,;	2137	252	262	SUCCESS
TPO	7173	.	GRCh37	2	1481106	1481106	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	657	196	875	0	ENST00000329066.4:c.1068C>T	p.Leu356=	p.L356=	ENST00000329066	NM_001206744.1	356	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1643.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCCGGGA	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,synonymous_variant,p.%3D,ENST00000329066,;TPO,synonymous_variant,p.%3D,ENST00000337415,;TPO,synonymous_variant,p.%3D,ENST00000382201,;TPO,synonymous_variant,p.%3D,ENST00000346956,;TPO,synonymous_variant,p.%3D,ENST00000422464,;TPO,synonymous_variant,p.%3D,ENST00000345913,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000497517,;	1159	875	854	SUCCESS
SCRN3	79634	.	GRCh37	2	175287757	175287757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	45	200	0	ENST00000272732.6:c.899G>A	p.Gly300Glu	p.G300E	ENST00000272732	NM_024583.4	300	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2258.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGGGACTC	NONE	.	.	hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF18	.	.	ENSP00000272732	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000272732	Transcript	.	.	ENSG00000144306	30382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.04)	.	SCRN3_HUMAN	SCRN3	HGNC	H9KVC8_HUMAN,F8W0M9_HUMAN,C9JNS3_HUMAN,C9JID8_HUMAN	.	UPI00002090F8	SNV	SCRN3,missense_variant,p.Gly300Glu,ENST00000272732,;SCRN3,missense_variant,p.Gly293Glu,ENST00000409673,;SCRN3,non_coding_transcript_exon_variant,,ENST00000549848,;SCRN3,non_coding_transcript_exon_variant,,ENST00000548921,;SCRN3,non_coding_transcript_exon_variant,,ENST00000490927,;SCRN3,intron_variant,,ENST00000475928,;SCRN3,3_prime_UTR_variant,,ENST00000548868,;SCRN3,3_prime_UTR_variant,,ENST00000437944,;	981	200	197	SUCCESS
PDE11A	50940	.	GRCh37	2	178936399	178936399	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs763774797	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	53	0	ENST00000286063.6:c.766A>T	p.Lys256Ter	p.K256*	ENST00000286063	NM_016953.3	256	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS33334.1	766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTGGAGA	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Pfam_domain:PF01590,Gene3D:3.30.450.40,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000286063	.	1/20	.	.	.	.	.	.	.	.	rs763774797	1/20	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,stop_gained,p.Lys256Ter,ENST00000286063,;PDE11A,intron_variant,,ENST00000358450,;	1084	53	61	SUCCESS
TTN	7273	.	GRCh37	2	179479398	179479398	+	synonymous_variant	Silent	SNP	G	G	A	rs547682223	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	40	120	0	ENST00000591111.1:c.43920C>T	p.Thr14640=	p.T14640=	ENST00000591111		14640	acC/acT	0	.	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS59435.1	48843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_benign	GTTACGGTGGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0.001	.	ENSP00000467141	A:0	261/363	.	.	.	.	.	.	.	.	rs547682223	261/363	PASS	ENST00000589042	Transcript	.	A:0.0002	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	A:0	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000460472,;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;	49068	120	129	SUCCESS
TTN	7273	.	GRCh37	2	179574397	179574397	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	27	112	0	ENST00000591111.1:c.27698T>A	p.Val9233Glu	p.V9233E	ENST00000591111		9233	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS59435.1	28649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCACTAAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	99/363	.	.	.	.	.	.	.	.	.	99/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val8306Glu,ENST00000342992,;TTN,missense_variant,p.Val9550Glu,ENST00000589042,;TTN,missense_variant,p.Val9233Glu,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	28874	112	123	SUCCESS
PDE1A	5136	.	GRCh37	2	183129032	183129032	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	209	33	200	0	ENST00000410103.1:c.211A>G	p.Thr71Ala	p.T71A	ENST00000410103	NM_001003683.2	71	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2285.1	211	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGTTTCAT	NONE	.	.	hmmpanther:PTHR11347:SF34,hmmpanther:PTHR11347	.	.	ENSP00000410309	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000435564	Transcript	.	.	ENSG00000115252	8774	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.607)	.	tolerated(0.1)	.	PDE1A_HUMAN	PDE1A	HGNC	Q9Y633_HUMAN,Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN,B7Z3A7_HUMAN	.	UPI0000001072	SNV	PDE1A,missense_variant,p.Thr71Ala,ENST00000456212,;PDE1A,missense_variant,p.Thr55Ala,ENST00000351439,;PDE1A,missense_variant,p.Thr71Ala,ENST00000331935,;PDE1A,missense_variant,p.Thr71Ala,ENST00000410103,;PDE1A,missense_variant,p.Thr71Ala,ENST00000358139,;PDE1A,missense_variant,p.Thr71Ala,ENST00000435564,;PDE1A,missense_variant,p.Thr55Ala,ENST00000409365,;PDE1A,5_prime_UTR_variant,,ENST00000536095,;PDE1A,non_coding_transcript_exon_variant,,ENST00000462938,;PDE1A,non_coding_transcript_exon_variant,,ENST00000482782,;PDE1A,non_coding_transcript_exon_variant,,ENST00000495511,;	412	200	243	SUCCESS
STAT1	6772	.	GRCh37	2	191859857	191859857	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	63	0	ENST00000361099.3:c.874G>C	p.Asp292His	p.D292H	ENST00000361099	NM_007315.3	292	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS2309.1	874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCATGTT	NONE	.	.	Superfamily_domains:SSF47655,Gene3D:1bg1A01,Pfam_domain:PF01017,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF18	.	.	ENSP00000354394	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000361099	Transcript	.	.	ENSG00000115415	11362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	STAT1_HUMAN	STAT1	HGNC	Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN	.	UPI00000473FB	SNV	STAT1,missense_variant,p.Asp294His,ENST00000392323,;STAT1,missense_variant,p.Asp292His,ENST00000392322,;STAT1,missense_variant,p.Asp292His,ENST00000361099,;STAT1,missense_variant,p.Asp292His,ENST00000409465,;STAT1,3_prime_UTR_variant,,ENST00000540176,;STAT1,downstream_gene_variant,,ENST00000424722,;STAT1,3_prime_UTR_variant,,ENST00000452281,;AC067945.3,upstream_gene_variant,,ENST00000342609,;	1262	63	61	SUCCESS
CCDC150	284992	.	GRCh37	2	197541399	197541399	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	369	105	442	1	ENST00000389175.4:c.1384G>T	p.Ala462Ser	p.A462S	ENST00000389175	NM_001080539.1	462	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46478.1	1384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGCATCA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000373827	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000389175	Transcript	.	.	ENSG00000144395	26834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.29)	.	CC150_HUMAN	CCDC150	HGNC	.	.	UPI0000DD7A7C	SNV	CCDC150,missense_variant,p.Ala462Ser,ENST00000389175,;CCDC150,missense_variant,p.Ala130Ser,ENST00000272831,;CCDC150,missense_variant,p.Ala130Ser,ENST00000423093,;CCDC150,3_prime_UTR_variant,,ENST00000472405,;CCDC150,non_coding_transcript_exon_variant,,ENST00000497159,;CCDC150,downstream_gene_variant,,ENST00000498512,;CCDC150,upstream_gene_variant,,ENST00000469429,;CCDC150,downstream_gene_variant,,ENST00000495513,;CCDC150,3_prime_UTR_variant,,ENST00000431807,;	1519	443	474	SUCCESS
ANKZF1	55139	.	GRCh37	2	220099637	220099637	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754704173	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	33	122	0	ENST00000323348.5:c.1294G>T	p.Val432Leu	p.V432L	ENST00000323348	NM_018089.2	432	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS42821.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGTATTG	NONE	.	.	hmmpanther:PTHR16036,hmmpanther:PTHR16036:SF2	.	.	ENSP00000321617	.	10/14	.	.	.	.	.	.	.	.	rs754704173,COSM3380049	10/14	PASS	ENST00000323348	Transcript	.	.	ENSG00000163516	25527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.02)	.	deleterious(0.04)	0,1	ANKZ1_HUMAN	ANKZF1	HGNC	C9K022_HUMAN,C9JS61_HUMAN,C9JQZ3_HUMAN,B8ZZS4_HUMAN	.	UPI000007069C	SNV	ANKZF1,missense_variant,p.Val222Leu,ENST00000409849,;ANKZF1,missense_variant,p.Val432Leu,ENST00000323348,;ANKZF1,missense_variant,p.Val432Leu,ENST00000410034,;GLB1L,downstream_gene_variant,,ENST00000409640,;ANKZF1,downstream_gene_variant,,ENST00000447157,;ANKZF1,downstream_gene_variant,,ENST00000453432,;GLB1L,downstream_gene_variant,,ENST00000392089,;ANKZF1,downstream_gene_variant,,ENST00000416565,;GLB1L,downstream_gene_variant,,ENST00000295759,;ANKZF1,downstream_gene_variant,,ENST00000436226,;GLB1L,downstream_gene_variant,,ENST00000356283,;GLB1L,downstream_gene_variant,,ENST00000440853,;GLB1L,downstream_gene_variant,,ENST00000497855,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000463792,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000477479,;ANKZF1,downstream_gene_variant,,ENST00000490526,;ANKZF1,downstream_gene_variant,,ENST00000465550,;ANKZF1,downstream_gene_variant,,ENST00000468387,;ANKZF1,downstream_gene_variant,,ENST00000474225,;ANKZF1,downstream_gene_variant,,ENST00000496346,;ANKZF1,downstream_gene_variant,,ENST00000475202,;ANKZF1,downstream_gene_variant,,ENST00000486203,;ANKZF1,downstream_gene_variant,,ENST00000461731,;ANKZF1,downstream_gene_variant,,ENST00000494886,;ANKZF1,downstream_gene_variant,,ENST00000435521,;ANKZF1,upstream_gene_variant,,ENST00000460966,;GLB1L,downstream_gene_variant,,ENST00000447002,;ANKZF1,downstream_gene_variant,,ENST00000493563,;ANKZF1,downstream_gene_variant,,ENST00000467884,;ANKZF1,downstream_gene_variant,,ENST00000489580,;ANKZF1,upstream_gene_variant,,ENST00000483188,;ANKZF1,downstream_gene_variant,,ENST00000491181,;ANKZF1,downstream_gene_variant,,ENST00000464763,;	1468	122	141	SUCCESS
ANO7	50636	.	GRCh37	2	242135166	242135166	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs199644599	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	107	0	ENST00000274979.8:c.377A>G	p.Gln126Arg	p.Q126R	ENST00000274979	NM_001001891.3	126	cAg/cGg	0	G:0	.	.	.	.	G	Q/R	protein_coding	YES	CCDS33423.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGGACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308	.	G:0.0001	ENSP00000274979	.	4/25	.	.	.	.	.	.	.	.	rs199644599	4/25	PASS	ENST00000274979	Transcript	.	.	ENSG00000146205	31677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.39)	.	ANO7_HUMAN	ANO7	HGNC	.	.	UPI0000D612DB	SNV	ANO7,missense_variant,p.Gln125Arg,ENST00000402430,;ANO7,missense_variant,p.Gln126Arg,ENST00000274979,;ANO7,missense_variant,p.Gln125Arg,ENST00000402530,;ANO7,upstream_gene_variant,,ENST00000475532,;	480	107	90	SUCCESS
ATL2	64225	.	GRCh37	2	38546161	38546161	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs753260503	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	77	1	ENST00000378954.4:c.364G>A	p.Asp122Asn	p.D122N	ENST00000378954	NM_001135673.1	122	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS46260.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCCTGTT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF02263,hmmpanther:PTHR10751:SF42,hmmpanther:PTHR10751,PROSITE_profiles:PS51715	.	.	ENSP00000368237	.	3/13	.	.	.	.	.	.	.	.	rs753260503	3/13	PASS	ENST00000378954	Transcript	.	.	ENSG00000119787	24047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	ATLA2_HUMAN	ATL2	HGNC	B7ZA64_HUMAN	.	UPI00001B00A2	SNV	ATL2,missense_variant,p.Asp104Asn,ENST00000332337,;ATL2,missense_variant,p.Asp122Asn,ENST00000419554,;ATL2,missense_variant,p.Asp159Asn,ENST00000451483,;ATL2,missense_variant,p.Asp104Asn,ENST00000452935,;ATL2,missense_variant,p.Asp122Asn,ENST00000378954,;ATL2,splice_region_variant,,ENST00000539122,;ATL2,splice_region_variant,,ENST00000402054,;ATL2,splice_region_variant,,ENST00000406122,;ATL2,splice_region_variant,,ENST00000546051,;ATL2,intron_variant,,ENST00000443098,;ATL2,intron_variant,,ENST00000449130,;ATL2,missense_variant,p.Gly40Glu,ENST00000405384,;ATL2,missense_variant,p.Gly77Glu,ENST00000456736,;ATL2,splice_region_variant,,ENST00000472097,;ATL2,splice_region_variant,,ENST00000474535,;	366	78	97	SUCCESS
SOS1	6654	.	GRCh37	2	39250230	39250230	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	97	0	ENST00000402219.2:c.1339G>A	p.Glu447Lys	p.E447K	ENST00000402219	NM_005633.3	447	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1802.1	1339	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCATTA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113,PROSITE_profiles:PS50003	.	.	ENSP00000387784	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Glu447Lys,ENST00000395038,;SOS1,missense_variant,p.Glu447Lys,ENST00000426016,;SOS1,missense_variant,p.Glu447Lys,ENST00000402219,;SOS1,downstream_gene_variant,,ENST00000428721,;SOS1,non_coding_transcript_exon_variant,,ENST00000472480,;SOS1,downstream_gene_variant,,ENST00000461545,;	1426	97	103	SUCCESS
ADCY5	111	.	GRCh37	3	123046605	123046605	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs758401087	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	72	0	ENST00000462833.1:c.1807C>T	p.Arg603Cys	p.R603C	ENST00000462833	NM_183357.2	603	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3022.1	1807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGTCTAC	NONE	byFrequency	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	.	.	ENSP00000419361	.	7/21	.	.	.	.	.	.	.	.	rs758401087,COSM3846032	7/21	PASS	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,missense_variant,p.Arg603Cys,ENST00000462833,;ADCY5,missense_variant,p.Arg236Cys,ENST00000491190,;ADCY5,missense_variant,p.Arg162Cys,ENST00000466617,;ADCY5,missense_variant,p.Arg253Cys,ENST00000309879,;ADCY5,downstream_gene_variant,,ENST00000483566,;ADCY5,downstream_gene_variant,,ENST00000476455,;	3020	72	86	SUCCESS
SLC6A6	6533	.	GRCh37	3	14487226	14487226	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	88	0	ENST00000454876.2:c.231T>C		p.X77_splice	ENST00000454876	NM_001134367.2	77	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS33705.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTGCGTT	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,PROSITE_patterns:PS00610,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000398063	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000454876	Transcript	.	.	ENSG00000131389	11052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A6_HUMAN	SLC6A6	HGNC	C9JPV1_HUMAN	.	UPI000013549A	SNV	SLC6A6,synonymous_variant,p.%3D,ENST00000454876,;SLC6A6,synonymous_variant,p.%3D,ENST00000452775,;SLC6A6,synonymous_variant,p.%3D,ENST00000360861,;SLC6A6,synonymous_variant,p.%3D,ENST00000416216,;SLC6A6,splice_region_variant,,ENST00000484191,;SLC6A6,synonymous_variant,p.%3D,ENST00000458124,;SLC6A6,synonymous_variant,p.%3D,ENST00000427436,;SLC6A6,splice_region_variant,,ENST00000435095,;SLC6A6,downstream_gene_variant,,ENST00000428884,;	560	88	66	SUCCESS
LPP	4026	.	GRCh37	3	188242487	188242487	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs760235825	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	69	0	ENST00000312675.4:c.341G>C	p.Arg114Pro	p.R114P	ENST00000312675	NM_005578.3	114	cGc/cCc	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS3291.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGCTCCA	NONE	byFrequency	.	hmmpanther:PTHR24207,hmmpanther:PTHR24207:SF0	.	.	ENSP00000318089	.	5/11	.	.	.	.	.	.	.	.	rs760235825	5/11	PASS	ENST00000312675	Transcript	.	.	ENSG00000145012	6679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.2)	.	LPP_HUMAN	LPP	HGNC	C9JT42_HUMAN,C9JIY7_HUMAN,C9JE51_HUMAN,C9J5C8_HUMAN,C9J4E3_HUMAN,C9J3U9_HUMAN,C9J2R5_HUMAN,C9J1K7_HUMAN,B7Z871_HUMAN	.	UPI000002E034	SNV	LPP,missense_variant,p.Arg114Pro,ENST00000448637,;LPP,missense_variant,p.Arg114Pro,ENST00000312675,;LPP,missense_variant,p.Arg114Pro,ENST00000543006,;LPP,missense_variant,p.Arg114Pro,ENST00000416784,;LPP,downstream_gene_variant,,ENST00000420410,;LPP,non_coding_transcript_exon_variant,,ENST00000484468,;LPP,non_coding_transcript_exon_variant,,ENST00000494233,;LPP,non_coding_transcript_exon_variant,,ENST00000474472,;	587	70	70	SUCCESS
ELP6	54859	.	GRCh37	3	47555198	47555198	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	31	0	ENST00000296149.4:c.-118T>C		p.*40*	ENST00000296149	NM_001031703.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43082.1	.	MUTECT|MUSE|VARSCANS	.	GCGCAATGCCA	NONE	.	.	.	.	.	ENSP00000296149	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000296149	Transcript	.	.	ENSG00000163832	25976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELP6_HUMAN	ELP6	HGNC	C9JLH5_HUMAN,C9JA82_HUMAN,C9J9N8_HUMAN,C9IYN7_HUMAN	.	UPI000020A684	SNV	ELP6,5_prime_UTR_variant,,ENST00000296149,;ELP6,upstream_gene_variant,,ENST00000446787,;ELP6,upstream_gene_variant,,ENST00000414236,;ELP6,upstream_gene_variant,,ENST00000449409,;ELP6,upstream_gene_variant,,ENST00000439305,;ELP6,upstream_gene_variant,,ENST00000444760,;ELP6,upstream_gene_variant,,ENST00000425291,;ELP6,upstream_gene_variant,,ENST00000412761,;ELP6,upstream_gene_variant,,ENST00000460502,;ELP6,5_prime_UTR_variant,,ENST00000442215,;ELP6,non_coding_transcript_exon_variant,,ENST00000485029,;ELP6,non_coding_transcript_exon_variant,,ENST00000483205,;ELP6,upstream_gene_variant,,ENST00000494161,;ELP6,upstream_gene_variant,,ENST00000461208,;ELP6,upstream_gene_variant,,ENST00000445044,;	54	31	30	SUCCESS
BSN	8927	.	GRCh37	3	49700756	49700756	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	76	0	ENST00000296452.4:c.11165A>G	p.Lys3722Arg	p.K3722R	ENST00000296452	NM_003458.3	3722	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2800.1	11165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAAGAAGG	NONE	.	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Lys3722Arg,ENST00000296452,;	11279	76	72	SUCCESS
ROBO1	6091	.	GRCh37	3	78706316	78706316	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	33	135	0	ENST00000464233.1:c.2546G>A	p.Ser849Asn	p.S849N	ENST00000464233	NM_002941.3	849	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS54611.1	2546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACTGTAT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000420321	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	deleterious(0.04)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Ser849Asn,ENST00000464233,;ROBO1,missense_variant,p.Ser813Asn,ENST00000495273,;ROBO1,missense_variant,p.Ser810Asn,ENST00000436010,;ROBO1,missense_variant,p.Ser813Asn,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,downstream_gene_variant,,ENST00000484514,;	2660	135	134	SUCCESS
COX18	285521	.	GRCh37	4	73931079	73931079	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	6	169	0	ENST00000295890.4:c.486A>C	p.Arg162=	p.R162=	ENST00000295890	NM_173827.2	162	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3554.1	486	MUTECT|MUSE	.	TTATCTCGCAC	NONE	.	.	Pfam_domain:PF02096,hmmpanther:PTHR12428:SF17,hmmpanther:PTHR12428	.	.	ENSP00000295890	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000295890	Transcript	.	.	ENSG00000163626	26801	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COX18_HUMAN	COX18	HGNC	.	.	UPI000006FD5F	SNV	COX18,synonymous_variant,p.%3D,ENST00000507544,;COX18,synonymous_variant,p.%3D,ENST00000295890,;COX18,downstream_gene_variant,,ENST00000421792,;COX18,synonymous_variant,p.%3D,ENST00000449739,;COX18,3_prime_UTR_variant,,ENST00000510031,;	578	169	148	SUCCESS
ALB	213	.	GRCh37	4	74280813	74280813	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764429360	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	36	119	0	ENST00000295897.4:c.1120G>T	p.Ala374Ser	p.A374S	ENST00000295897	NM_000477.5	374	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3555.1	1120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGCCAAG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	9/15	.	.	.	.	.	.	.	.	rs764429360	9/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	tolerated(0.07)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Ala374Ser,ENST00000509063,;ALB,missense_variant,p.Ala219Ser,ENST00000511370,;ALB,missense_variant,p.Ala182Ser,ENST00000415165,;ALB,missense_variant,p.Ala374Ser,ENST00000295897,;ALB,missense_variant,p.Ala224Ser,ENST00000503124,;ALB,missense_variant,p.Ala259Ser,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,non_coding_transcript_exon_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;	1209	119	130	SUCCESS
MMRN1	22915	.	GRCh37	4	90816240	90816240	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764060846	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	94	0	ENST00000264790.2:c.118C>T	p.Pro40Ser	p.P40S	ENST00000264790	NM_007351.2	40	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS3635.1	118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGCCTTCT	NONE	.	.	.	.	.	ENSP00000378431	.	2/9	.	.	.	.	.	.	.	.	rs764060846	2/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.22)	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,missense_variant,p.Pro40Ser,ENST00000394980,;MMRN1,missense_variant,p.Pro40Ser,ENST00000264790,;MMRN1,missense_variant,p.Pro40Ser,ENST00000394981,;	437	94	86	SUCCESS
SLC12A7	10723	.	GRCh37	5	1053548	1053548	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755398930	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	72	0	ENST00000264930.5:c.3076G>A	p.Val1026Ile	p.V1026I	ENST00000264930	NM_006598.2	1026	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS34129.1	3076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGACGCCAT	NONE	byFrequency	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	23/24	.	.	.	.	.	.	.	.	rs755398930,COSM1287952	23/24	PASS	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.116)	.	deleterious(0.03)	0,1	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,missense_variant,p.Val1026Ile,ENST00000264930,;SLC12A7,downstream_gene_variant,,ENST00000513223,;SLC12A7,downstream_gene_variant,,ENST00000514994,;	3120	72	68	SUCCESS
UQCRQ	27089	.	GRCh37	5	132202636	132202636	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	77	1	ENST00000378665.1:c.63G>T	p.Pro21=	p.P21=	ENST00000378665		21	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34237.1	63	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCACCGTTCGA	NONE	.	.	hmmpanther:PTHR12119,Gene3D:1.20.5.210,Pfam_domain:PF02939,Superfamily_domains:SSF81508	.	.	ENSP00000367939	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000378670	Transcript	1	.	ENSG00000164405	29594	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	QCR8_HUMAN	UQCRQ	HGNC	.	.	UPI000015D476	SNV	UQCRQ,synonymous_variant,p.%3D,ENST00000378667,;UQCRQ,synonymous_variant,p.%3D,ENST00000378670,;UQCRQ,synonymous_variant,p.%3D,ENST00000378665,;GDF9,upstream_gene_variant,,ENST00000296875,;GDF9,upstream_gene_variant,,ENST00000378673,;UQCRQ,intron_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000472320,;GDF9,upstream_gene_variant,,ENST00000464378,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000480372,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;	204	78	73	SUCCESS
NEUROG1	4762	.	GRCh37	5	134870884	134870884	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	74	0	ENST00000314744.4:c.497C>T	p.Pro166Leu	p.P166L	ENST00000314744	NM_006161.2	166	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4187.1	497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19290:SF76,hmmpanther:PTHR19290	.	.	ENSP00000317580	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314744	Transcript	.	.	ENSG00000181965	7764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.2)	.	NGN1_HUMAN	NEUROG1	HGNC	F1T0H3_HUMAN	.	UPI0000072868	SNV	NEUROG1,missense_variant,p.Pro166Leu,ENST00000314744,;	756	74	75	SUCCESS
PCDHB3	56132	.	GRCh37	5	140480872	140480872	+	synonymous_variant	Silent	SNP	C	C	T	rs148121148	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	21	125	0	ENST00000231130.2:c.639C>T	p.Thr213=	p.T213=	ENST00000231130	NM_018937.2	213	acC/acT	0	T:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS4245.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCGCGCT	NONE	byCluster	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF19,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	T:0	ENSP00000231130	.	1/1	.	.	.	.	.	.	.	.	rs148121148,COSM1179069	1/1	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,synonymous_variant,p.%3D,ENST00000231130,;PCDHB2,downstream_gene_variant,,ENST00000194155,;AC005754.7,intron_variant,,ENST00000607216,;	639	125	112	SUCCESS
PCDH12	51294	.	GRCh37	5	141329103	141329103	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	84	0	ENST00000231484.3:c.3024C>T	p.Gly1008=	p.G1008=	ENST00000231484	NM_016580.3	1008	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4269.1	3024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGCCTCC	NONE	.	.	.	.	.	ENSP00000231484	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000231484	Transcript	.	.	ENSG00000113555	8657	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,synonymous_variant,p.%3D,ENST00000231484,;AC005740.6,upstream_gene_variant,,ENST00000607378,;	4235	84	89	SUCCESS
STK10	6793	.	GRCh37	5	171471887	171471887	+	stop_retained_variant	Silent	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	57	0	ENST00000176763.5:c.2906A>G	p.Ter969=	p.*969=	ENST00000176763	NM_005990.3	969	tAa/tGa	0	.	.	.	.	.	C	*	protein_coding	YES	CCDS34290.1	2906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTTAAGAA	NONE	.	.	.	.	.	ENSP00000176763	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000176763	Transcript	1	.	ENSG00000072786	11388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK10_HUMAN	STK10	HGNC	.	.	UPI0000136104	SNV	STK10,synonymous_variant,p.%3D,ENST00000520476,;STK10,stop_retained_variant,p.%3D,ENST00000176763,;STK10,non_coding_transcript_exon_variant,,ENST00000517360,;	3250	57	65	SUCCESS
N4BP3	23138	.	GRCh37	5	177548182	177548182	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	43	0	ENST00000274605.5:c.936T>A	p.Ala312=	p.A312=	ENST00000274605	NM_015111.1	312	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34307.1	936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTGAGCG	NONE	.	.	hmmpanther:PTHR32274	.	.	ENSP00000274605	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000274605	Transcript	.	.	ENSG00000145911	29852	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N4BP3_HUMAN	N4BP3	HGNC	.	.	UPI00001C1E2A	SNV	N4BP3,synonymous_variant,p.%3D,ENST00000274605,;	1295	43	68	SUCCESS
EDIL3	10085	.	GRCh37	5	83402637	83402637	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781690362	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	124	0	ENST00000296591.5:c.481C>A	p.Pro161Thr	p.P161T	ENST00000296591	NM_005711.4	161	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS4062.1	481	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGGCCTG	NONE	byFrequency	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Gene3D:2.60.120.260,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50022	.	.	ENSP00000296591	.	6/11	.	.	.	.	.	.	.	.	rs781690362	6/11	PASS	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.276)	.	tolerated(0.1)	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,missense_variant,p.Pro161Thr,ENST00000296591,;EDIL3,missense_variant,p.Pro151Thr,ENST00000380138,;EDIL3,non_coding_transcript_exon_variant,,ENST00000507663,;	900	124	121	SUCCESS
SOGA3	387104	.	GRCh37	6	127837105	127837105	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	31	0	ENST00000481848.2:c.655T>C	p.Ser219Pro	p.S219P	ENST00000481848		219	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS43505.1	655	MUTECT|MUSE|VARSCANS	.	GGAGGATGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2	.	.	ENSP00000451768	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000556132	Transcript	.	.	ENSG00000214338	21494	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.307)	.	tolerated_low_confidence(0.15)	.	SOGA3_HUMAN	SOGA3	HGNC	A5PLQ8_HUMAN	.	UPI0000419273	SNV	SOGA3,missense_variant,p.Ser219Pro,ENST00000525778,;SOGA3,missense_variant,p.Ser219Pro,ENST00000556132,;SOGA3,missense_variant,p.Ser219Pro,ENST00000465909,;SOGA3,missense_variant,p.Ser219Pro,ENST00000368268,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;SOGA3,missense_variant,p.Ser219Pro,ENST00000481848,;	1520	31	28	SUCCESS
GRM1	2911	.	GRCh37	6	146755735	146755735	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762206298	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	9	70	0	ENST00000282753.1:c.3388G>T	p.Asp1130Tyr	p.D1130Y	ENST00000282753	NM_001278067.1	1130	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS5209.1	3388	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGACCTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000354896	.	9/9	.	.	.	.	.	.	.	.	rs762206298	9/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.285)	.	deleterious_low_confidence(0.01)	.	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,missense_variant,p.Asp1130Tyr,ENST00000282753,;GRM1,missense_variant,p.Asp1130Tyr,ENST00000361719,;GRM1,3_prime_UTR_variant,,ENST00000392299,;GRM1,3_prime_UTR_variant,,ENST00000507907,;GRM1,3_prime_UTR_variant,,ENST00000355289,;GRM1,3_prime_UTR_variant,,ENST00000492807,;	3858	71	58	SUCCESS
HIST1H2BM	0	.	GRCh37	6	27783152	27783152	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	60	0	ENST00000359465.4:c.331G>A	p.Ala111Thr	p.A111T	ENST00000359465	NM_003521.2	111	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4629.1	331	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGCCGTG	NONE	.	.	Prints_domain:PR00621,Superfamily_domains:SSF47113,SMART_domains:SM00427,Gene3D:1.10.20.10,PROSITE_patterns:PS00357,hmmpanther:PTHR23428	.	.	ENSP00000352442	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359465	Transcript	.	.	ENSG00000196374	4750	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.101)	.	tolerated_low_confidence(0.06)	.	H2B1M_HUMAN	HIST1H2BM	HGNC	I6L9F7_HUMAN	.	UPI0000001BD7	SNV	HIST1H2BM,missense_variant,p.Ala111Thr,ENST00000359465,;HIST1H2AJ,upstream_gene_variant,,ENST00000333151,;HIST1H3H,downstream_gene_variant,,ENST00000369163,;	331	60	47	SUCCESS
OR2H1	26716	.	GRCh37	6	29430083	29430083	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	109	0	ENST00000377132.1:c.537C>T	p.Val179=	p.V179=	ENST00000377132		179	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4660.1	537	RADIA|MUTECT|MUSE	.	GAGGTCCCATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF190,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366340	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377136	Transcript	.	.	ENSG00000204688	8252	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR2H1_HUMAN	OR2H1	HGNC	Q8IU63_HUMAN	.	UPI000000DCA7	SNV	OR2H1,synonymous_variant,p.%3D,ENST00000442615,;OR2H1,synonymous_variant,p.%3D,ENST00000377136,;OR2H1,synonymous_variant,p.%3D,ENST00000396792,;OR2H1,synonymous_variant,p.%3D,ENST00000377133,;OR2H1,synonymous_variant,p.%3D,ENST00000377132,;OR2H1,non_coding_transcript_exon_variant,,ENST00000473369,;OR2H1,non_coding_transcript_exon_variant,,ENST00000484554,;OR2H1,downstream_gene_variant,,ENST00000484371,;UBDP1,downstream_gene_variant,,ENST00000457888,;	1002	109	106	SUCCESS
YIPF3	25844	.	GRCh37	6	43484637	43484637	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	46	162	0	ENST00000372422.2:c.-92G>A		p.*31*	ENST00000372422	NM_015388.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4899.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCGAGGA	NONE	.	.	.	.	.	ENSP00000361499	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000372422	Transcript	.	.	ENSG00000137207	21023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF3_HUMAN	YIPF3	HGNC	Q5JTD5_HUMAN,D6RGY8_HUMAN	.	UPI0000037775	SNV	YIPF3,5_prime_UTR_variant,,ENST00000506469,;YIPF3,5_prime_UTR_variant,,ENST00000503972,;YIPF3,5_prime_UTR_variant,,ENST00000372422,;POLR1C,intron_variant,,ENST00000428025,;POLR1C,upstream_gene_variant,,ENST00000372389,;POLR1C,upstream_gene_variant,,ENST00000372344,;POLR1C,upstream_gene_variant,,ENST00000304004,;YIPF3,upstream_gene_variant,,ENST00000500090,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,upstream_gene_variant,,ENST00000511831,;RP3-337H4.9,downstream_gene_variant,,ENST00000607571,;YIPF3,5_prime_UTR_variant,,ENST00000490447,;YIPF3,5_prime_UTR_variant,,ENST00000510102,;YIPF3,5_prime_UTR_variant,,ENST00000455768,;YIPF3,5_prime_UTR_variant,,ENST00000416380,;YIPF3,5_prime_UTR_variant,,ENST00000460547,;YIPF3,non_coding_transcript_exon_variant,,ENST00000460903,;YIPF3,upstream_gene_variant,,ENST00000488966,;POLR1C,upstream_gene_variant,,ENST00000455605,;YIPF3,upstream_gene_variant,,ENST00000503147,;YIPF3,upstream_gene_variant,,ENST00000502714,;YIPF3,upstream_gene_variant,,ENST00000512713,;POLR1C,upstream_gene_variant,,ENST00000488601,;POLR1C,upstream_gene_variant,,ENST00000481352,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,upstream_gene_variant,,ENST00000514627,;YIPF3,upstream_gene_variant,,ENST00000372417,;	92	162	144	SUCCESS
XPO5	57510	.	GRCh37	6	43514395	43514395	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	49	192	1	ENST00000265351.7:c.2255G>C	p.Gly752Ala	p.G752A	ENST00000265351	NM_020750.2	752	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS47430.1	2255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAACCCACC	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3	.	.	ENSP00000265351	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.09)	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,missense_variant,p.Gly752Ala,ENST00000265351,;SCARNA15,downstream_gene_variant,,ENST00000516409,;XPO5,downstream_gene_variant,,ENST00000424378,;XPO5,3_prime_UTR_variant,,ENST00000398835,;XPO5,non_coding_transcript_exon_variant,,ENST00000515657,;XPO5,downstream_gene_variant,,ENST00000496341,;XPO5,downstream_gene_variant,,ENST00000513451,;	2466	193	213	SUCCESS
F13A1	2162	.	GRCh37	6	6225010	6225010	+	synonymous_variant	Silent	SNP	A	A	T	rs757343318	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	26	153	0	ENST00000264870.3:c.882T>A	p.Thr294=	p.T294=	ENST00000264870	NM_000129.3	294	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4496.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGTCCA	NONE	.	.	hmmpanther:PTHR11590:SF42,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	.	ENSP00000264870	.	7/15	.	.	.	.	.	.	.	.	rs757343318	7/15	PASS	ENST00000264870	Transcript	.	.	ENSG00000124491	3531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F13A_HUMAN	F13A1	HGNC	Q9NQP5_HUMAN	.	UPI000013D585	SNV	F13A1,synonymous_variant,p.%3D,ENST00000264870,;F13A1,synonymous_variant,p.%3D,ENST00000445223,;	1148	153	142	SUCCESS
ZNF292	23036	.	GRCh37	6	87964507	87964507	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	57	170	0	ENST00000369577.3:c.1160G>A	p.Arg387His	p.R387H	ENST00000369577	NM_015021.1	387	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47457.1	1160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACGTGCTT	NONE	.	.	hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	.	.	ENSP00000358590	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369577	Transcript	.	.	ENSG00000188994	18410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN292_HUMAN	ZNF292	HGNC	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN	.	UPI000020D2CC	SNV	ZNF292,missense_variant,p.Arg387His,ENST00000369577,;ZNF292,missense_variant,p.Arg382His,ENST00000339907,;ZNF292,3_prime_UTR_variant,,ENST00000466062,;ZNF292,intron_variant,,ENST00000496806,;	1203	170	197	SUCCESS
MMS22L	253714	.	GRCh37	6	97676991	97676991	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	36	190	1	ENST00000275053.4:c.1818C>A	p.Phe606Leu	p.F606L	ENST00000275053	NM_198468.2	606	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS5039.1	1818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGAATTC	NONE	.	.	Pfam_domain:PF14910	.	.	ENSP00000275053	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000275053	Transcript	.	.	ENSG00000146263	21475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	MMS22_HUMAN	MMS22L	HGNC	H9KVD8_HUMAN	.	UPI00003673C9	SNV	MMS22L,missense_variant,p.Phe606Leu,ENST00000275053,;MMS22L,missense_variant,p.Phe566Leu,ENST00000369251,;MMS22L,downstream_gene_variant,,ENST00000510018,;MMS22L,downstream_gene_variant,,ENST00000509383,;	2084	191	182	SUCCESS
SLC26A3	1811	.	GRCh37	7	107431676	107431676	+	synonymous_variant	Silent	SNP	C	C	T	rs754233296	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	28	151	0	ENST00000340010.5:c.387G>A	p.Pro129=	p.P129=	ENST00000340010	NM_000111.2	129	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5748.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACGGACC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,TIGRFAM_domain:TIGR00815,Pfam_domain:PF13792	.	.	ENSP00000345873	.	5/21	.	.	.	.	.	.	.	.	rs754233296,COSM1319047	5/21	PASS	ENST00000340010	Transcript	.	.	ENSG00000091138	3018	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S26A3_HUMAN	SLC26A3	HGNC	Q75N04_HUMAN,C9JFJ2_HUMAN	.	UPI000000128C	SNV	SLC26A3,synonymous_variant,p.%3D,ENST00000340010,;SLC26A3,synonymous_variant,p.%3D,ENST00000422236,;SLC26A3,downstream_gene_variant,,ENST00000453332,;SLC26A3,3_prime_UTR_variant,,ENST00000379083,;SLC26A3,upstream_gene_variant,,ENST00000468551,;	572	151	131	SUCCESS
NCAPG2	54892	.	GRCh37	7	158449049	158449049	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs995265100	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	44	175	0	ENST00000356309.3:c.2291T>C	p.Ile764Thr	p.I764T	ENST00000356309	NM_017760.5	764	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS43686.1	2291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAATGTAG	NONE	.	.	Pfam_domain:PF12422,hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4	.	.	ENSP00000386569	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000409423	Transcript	.	.	ENSG00000146918	21904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.13)	.	CNDG2_HUMAN	NCAPG2	HGNC	.	.	UPI000000DA46	SNV	NCAPG2,missense_variant,p.Ile556Thr,ENST00000275830,;NCAPG2,missense_variant,p.Ile764Thr,ENST00000409423,;NCAPG2,missense_variant,p.Ile566Thr,ENST00000441982,;NCAPG2,missense_variant,p.Ile764Thr,ENST00000449727,;NCAPG2,missense_variant,p.Ile764Thr,ENST00000356309,;NCAPG2,missense_variant,p.Ile764Thr,ENST00000409339,;NCAPG2,missense_variant,p.Ile265Thr,ENST00000541468,;NCAPG2,downstream_gene_variant,,ENST00000475918,;NCAPG2,downstream_gene_variant,,ENST00000474940,;NCAPG2,3_prime_UTR_variant,,ENST00000432615,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000467785,;	2464	175	174	SUCCESS
AP5Z1	9907	.	GRCh37	7	4815367	4815367	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	42	0	ENST00000348624.4:c.21G>C	p.Glu7Asp	p.E7D	ENST00000348624	NM_014855.2	7	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS47528.1	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGAGAGTTT	NONE	.	.	.	.	.	ENSP00000297562	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000348624	Transcript	.	.	ENSG00000242802	22197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	deleterious(0.02)	.	AP5Z1_HUMAN	AP5Z1	HGNC	A4D1Z4_HUMAN	.	UPI00003E5903	SNV	AP5Z1,missense_variant,p.Glu7Asp,ENST00000401897,;AP5Z1,missense_variant,p.Glu7Asp,ENST00000348624,;FOXK1,downstream_gene_variant,,ENST00000328914,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;	115	42	33	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72418914	72418914	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	86	0	ENST00000388955.4:n.1712T>C		p.*571*	ENST00000388955		969		0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS59059.1	2905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAATAAC	NONE	.	.	.	.	.	ENSP00000378687	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.44)	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,missense_variant,p.Asn969Asp,ENST00000446813,;POM121,missense_variant,p.Asn969Asp,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000257622,;POM121,downstream_gene_variant,,ENST00000434423,;POM121,downstream_gene_variant,,ENST00000358357,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000388955,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000602348,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000444583,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000485741,;NSUN5P2,downstream_gene_variant,,ENST00000457352,;	3946	86	69	SUCCESS
GSAP	54103	.	GRCh37	7	77010640	77010640	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	63	0	ENST00000257626.7:c.558A>G	p.Gln186=	p.Q186=	ENST00000257626	NM_017439.3	186	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS34672.2	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTGGGC	NONE	.	.	hmmpanther:PTHR13630:SF1,hmmpanther:PTHR13630	.	.	ENSP00000257626	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000257626	Transcript	.	.	ENSG00000186088	28042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSAP_HUMAN	GSAP	HGNC	B7ZL33_HUMAN	.	UPI000015FEE3	SNV	GSAP,synonymous_variant,p.%3D,ENST00000257626,;GSAP,non_coding_transcript_exon_variant,,ENST00000334003,;	637	63	67	SUCCESS
MAGI2	9863	.	GRCh37	7	77998508	77998508	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	370	111	446	0	ENST00000354212.4:c.1068A>G	p.Lys356=	p.K356=	ENST00000354212	NM_012301.3	356	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS5594.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGATTTTTTC	NONE	.	.	PROSITE_profiles:PS50020,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,PROSITE_patterns:PS01159,Gene3D:2.20.70.10,Pfam_domain:PF00397,SMART_domains:SM00456,Superfamily_domains:SSF51045	.	.	ENSP00000346151	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,synonymous_variant,p.%3D,ENST00000536571,;MAGI2,synonymous_variant,p.%3D,ENST00000535697,;MAGI2,synonymous_variant,p.%3D,ENST00000354212,;MAGI2,synonymous_variant,p.%3D,ENST00000419488,;MAGI2,synonymous_variant,p.%3D,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000520379,;	1322	446	482	SUCCESS
GNAI1	2770	.	GRCh37	7	79846776	79846776	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	42	201	0	ENST00000351004.3:c.1032A>G	p.Ile344Met	p.I344M	ENST00000351004	NM_002069.5	344	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS5595.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAAAAAA	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF173,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00441	.	.	ENSP00000343027	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000351004	Transcript	.	.	ENSG00000127955	4384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.552)	.	deleterious(0.04)	.	GNAI1_HUMAN	GNAI1	HGNC	O43383_HUMAN,C9JPP4_HUMAN,C9JL77_HUMAN,C9J2Z2_HUMAN	.	UPI000000124A	SNV	GNAI1,missense_variant,p.Ile292Met,ENST00000457358,;GNAI1,missense_variant,p.Ile344Met,ENST00000351004,;	1405	201	212	SUCCESS
TRPS1	7227	.	GRCh37	8	116427157	116427157	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	20	97	0	ENST00000220888.5:c.2940A>G	p.Leu980=	p.L980=	ENST00000220888		980	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS6318.2	2979	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTAACGG	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,synonymous_variant,p.%3D,ENST00000520276,;TRPS1,synonymous_variant,p.%3D,ENST00000220888,;TRPS1,synonymous_variant,p.%3D,ENST00000518018,;TRPS1,synonymous_variant,p.%3D,ENST00000519076,;TRPS1,synonymous_variant,p.%3D,ENST00000395715,;	3557	97	159	SUCCESS
ADCY8	114	.	GRCh37	8	131861908	131861908	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	276	56	189	1	ENST00000286355.5:c.2352C>A	p.Ala784=	p.A784=	ENST00000286355	NM_001115.2	784	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6363.1	2352	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGGGCCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,intron_variant,,ENST00000377928,;	4445	190	333	SUCCESS
FAM135B	51059	.	GRCh37	8	139163633	139163633	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1328882882	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	91	150	0	ENST00000395297.1:c.3085G>A	p.Glu1029Lys	p.E1029K	ENST00000395297	NM_015912.3	1029	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6375.2	3085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCCACAG	NONE	.	.	hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482	.	.	ENSP00000378710	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000395297	Transcript	.	.	ENSG00000147724	28029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	F135B_HUMAN	FAM135B	HGNC	J3QSR3_HUMAN	.	UPI000057A0DB	SNV	FAM135B,missense_variant,p.Glu1029Lys,ENST00000395297,;FAM135B,missense_variant,p.Glu1029Lys,ENST00000276737,;FAM135B,missense_variant,p.Glu339Lys,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	3256	150	266	SUCCESS
GSR	2936	.	GRCh37	8	30539480	30539480	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	97	0	ENST00000221130.5:c.1252C>T	p.His418Tyr	p.H418Y	ENST00000221130	NM_000637.3	418	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS34877.1	1252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTGGCTGA	NONE	.	.	hmmpanther:PTHR22912:SF106,hmmpanther:PTHR22912,Gene3D:3.30.390.30,TIGRFAM_domain:TIGR01421,Pfam_domain:PF02852,Superfamily_domains:SSF55424,Prints_domain:PR00411	.	.	ENSP00000221130	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000221130	Transcript	1	.	ENSG00000104687	4623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GSHR_HUMAN	GSR	HGNC	E5RI06_HUMAN	.	UPI000012BBFF	SNV	GSR,missense_variant,p.His375Tyr,ENST00000414019,;GSR,missense_variant,p.His418Tyr,ENST00000221130,;GSR,missense_variant,p.His365Tyr,ENST00000541648,;GSR,missense_variant,p.His336Tyr,ENST00000537535,;GSR,missense_variant,p.His389Tyr,ENST00000546342,;GSR,3_prime_UTR_variant,,ENST00000523295,;	1343	97	89	SUCCESS
FNTA	2339	.	GRCh37	8	42911566	42911566	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	50	0	ENST00000302279.3:c.77C>G	p.Pro26Arg	p.P26R	ENST00000302279	NM_002027.2	26	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS6140.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGCACC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000303423	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000302279	Transcript	.	.	ENSG00000168522	3782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	.	FNTA_HUMAN	FNTA	HGNC	E9PPM9_HUMAN,D3DSY9_HUMAN,B3KVN2_HUMAN	.	UPI000013176D	SNV	FNTA,missense_variant,p.Pro26Arg,ENST00000302279,;FNTA,missense_variant,p.Pro26Arg,ENST00000342116,;FNTA,missense_variant,p.Pro21Arg,ENST00000531266,;RP11-598P20.5,intron_variant,,ENST00000534420,;FNTA,upstream_gene_variant,,ENST00000533336,;FNTA,upstream_gene_variant,,ENST00000529687,;FNTA,upstream_gene_variant,,ENST00000525699,;FNTA,non_coding_transcript_exon_variant,,ENST00000524546,;FNTA,non_coding_transcript_exon_variant,,ENST00000527153,;FNTA,intron_variant,,ENST00000533559,;FNTA,missense_variant,p.Pro26Arg,ENST00000526755,;FNTA,missense_variant,p.Pro26Arg,ENST00000533383,;FNTA,missense_variant,p.Pro26Arg,ENST00000533998,;FNTA,non_coding_transcript_exon_variant,,ENST00000533368,;	271	50	32	SUCCESS
SMC2	10592	.	GRCh37	9	106864749	106864749	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	70	276	1	ENST00000286398.7:c.915G>T	p.Glu305Asp	p.E305D	ENST00000286398	NM_006444.2	305	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS35086.1	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGGCTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF9,hmmpanther:PTHR18937,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719	.	.	ENSP00000286398	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000286398	Transcript	.	.	ENSG00000136824	14011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.17)	.	SMC2_HUMAN	SMC2	HGNC	Q5T821_HUMAN	.	UPI000013DE44	SNV	SMC2,missense_variant,p.Glu305Asp,ENST00000303219,;SMC2,missense_variant,p.Glu305Asp,ENST00000374793,;SMC2,missense_variant,p.Glu305Asp,ENST00000286398,;SMC2,missense_variant,p.Glu305Asp,ENST00000374787,;SMC2,downstream_gene_variant,,ENST00000440179,;	1203	277	272	SUCCESS
CTNNAL1	8727	.	GRCh37	9	111739250	111739250	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	44	0	ENST00000325551.4:c.1180A>T	p.Lys394Ter	p.K394*	ENST00000325551	NM_003798.2	394	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS6775.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTTAAGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18914:SF8,hmmpanther:PTHR18914,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220	.	.	ENSP00000320434	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000325551	Transcript	.	.	ENSG00000119326	2512	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNL1_HUMAN	CTNNAL1	HGNC	Q5JTQ9_HUMAN	.	UPI0000070AF1	SNV	CTNNAL1,stop_gained,p.Lys394Ter,ENST00000325580,;CTNNAL1,stop_gained,p.Lys394Ter,ENST00000325551,;CTNNAL1,stop_gained,p.Lys394Ter,ENST00000374595,;CTNNAL1,non_coding_transcript_exon_variant,,ENST00000488130,;	1267	44	40	SUCCESS
TAF1L	138474	.	GRCh37	9	32632921	32632921	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	334	73	403	1	ENST00000242310.4:c.2657A>G	p.Asp886Gly	p.D886G	ENST00000242310	NM_153809.2	886	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS35003.1	2657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATCAGAC	BUFFER|p.R888C|c.2662C>T|3	.	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.241)	.	deleterious(0.02)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Asp886Gly,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	2747	404	408	SUCCESS
TMEM215	401498	.	GRCh37	9	32784868	32784868	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	28	122	0	ENST00000342743.5:c.687G>A	p.Trp229Ter	p.W229*	ENST00000342743	NM_212558.2	229	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS6530.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGGACCA	NONE	.	.	hmmpanther:PTHR31922	.	.	ENSP00000345468	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342743	Transcript	.	.	ENSG00000188133	33816	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM215_HUMAN	TMEM215	HGNC	.	.	UPI0000049371	SNV	TMEM215,stop_gained,p.Trp229Ter,ENST00000342743,;	1052	122	114	SUCCESS
GOLM1	51280	.	GRCh37	9	88692475	88692475	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762028025	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	48	0	ENST00000388711.3:c.161G>T	p.Arg54Leu	p.R54L	ENST00000388711	NM_177937.2	54	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS35054.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCGGACC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15896,hmmpanther:PTHR15896:SF8,Prints_domain:PR02084	.	.	ENSP00000373364	.	3/10	.	.	.	.	.	.	.	.	rs762028025,COSM3220849	3/10	PASS	ENST00000388712	Transcript	.	.	ENSG00000135052	15451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	deleterious(0)	0,1	GOLM1_HUMAN	GOLM1	HGNC	C9JYM4_HUMAN,C9J941_HUMAN,B3KNK9_HUMAN	.	UPI000003B10E	SNV	GOLM1,missense_variant,p.Arg54Leu,ENST00000466178,;GOLM1,missense_variant,p.Arg54Leu,ENST00000388712,;GOLM1,missense_variant,p.Arg54Leu,ENST00000486130,;GOLM1,missense_variant,p.Arg54Leu,ENST00000388711,;GOLM1,non_coding_transcript_exon_variant,,ENST00000257504,;GOLM1,missense_variant,p.Arg54Leu,ENST00000470762,;GOLM1,intron_variant,,ENST00000472919,;	330	48	59	SUCCESS
OCRL	4952	.	GRCh37	X	128694557	128694557	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	50	0	ENST00000371113.4:c.753C>A	p.Gly251=	p.G251=	ENST00000371113	NM_000276.3	251	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS35393.1	753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCCAGTC	NONE	.	.	hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	.	.	ENSP00000360154	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000371113	Transcript	.	.	ENSG00000122126	8108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OCRL_HUMAN	OCRL	HGNC	.	.	UPI0000167B0B	SNV	OCRL,synonymous_variant,p.%3D,ENST00000371113,;OCRL,synonymous_variant,p.%3D,ENST00000357121,;OCRL,downstream_gene_variant,,ENST00000486673,;	918	50	86	SUCCESS
SLC6A8	6535	.	GRCh37	X	152954021	152954021	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs782566456	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	50	164	0	ENST00000253122.5:c.-9G>A		p.*3*	ENST00000253122	NM_005629.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14726.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCCGAG	NONE	byFrequency	.	.	.	.	ENSP00000253122	.	1/13	.	.	.	.	.	.	.	.	rs782566456	1/13	PASS	ENST00000253122	Transcript	.	.	ENSG00000130821	11055	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A8_HUMAN	SLC6A8	HGNC	.	.	UPI00001354A0	SNV	SLC6A8,5_prime_UTR_variant,,ENST00000253122,;PNCK,intron_variant,,ENST00000458354,;SLC6A8,upstream_gene_variant,,ENST00000430077,;SLC6A8,upstream_gene_variant,,ENST00000442457,;SLC6A8,upstream_gene_variant,,ENST00000413787,;PNCK,upstream_gene_variant,,ENST00000425526,;SLC6A8,upstream_gene_variant,,ENST00000457723,;PNCK,upstream_gene_variant,,ENST00000423545,;SLC6A8,upstream_gene_variant,,ENST00000429147,;PNCK,upstream_gene_variant,,ENST00000419804,;PNCK,intron_variant,,ENST00000480693,;SLC6A8,upstream_gene_variant,,ENST00000467402,;SLC6A8,upstream_gene_variant,,ENST00000485324,;PNCK,upstream_gene_variant,,ENST00000484705,;SLC6A8,upstream_gene_variant,,ENST00000466243,;PNCK,upstream_gene_variant,,ENST00000473831,;PNCK,upstream_gene_variant,,ENST00000460106,;SLC6A8,upstream_gene_variant,,ENST00000476466,;PNCK,upstream_gene_variant,,ENST00000488994,;	468	165	191	SUCCESS
FAM47A	158724	.	GRCh37	X	34148187	34148187	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1214165078	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	58	179	0	ENST00000346193.3:c.2209A>G	p.Ile737Val	p.I737V	ENST00000346193	NM_203408.3	737	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43926.1	2209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAATTGGTC	NONE	.	.	.	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.658)	.	deleterious(0.02)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Ile737Val,ENST00000346193,;	2261	179	155	SUCCESS
CWF19L1	55280	.	GRCh37	10	102020773	102020773	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	212	446	1	ENST00000354105.4:c.137G>C	p.Gly46Ala	p.G46A	ENST00000354105	NM_018294.4	46	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS7489.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCAAAG	NONE	.	.	hmmpanther:PTHR12072:SF4,hmmpanther:PTHR12072,Gene3D:3.60.21.10	.	.	ENSP00000326411	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000354105	Transcript	.	.	ENSG00000095485	25613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.27)	.	tolerated(0.05)	.	C19L1_HUMAN	CWF19L1	HGNC	D3DR67_HUMAN	.	UPI0000070B3E	SNV	CWF19L1,missense_variant,p.Gly46Ala,ENST00000354105,;RNU6-422P,downstream_gene_variant,,ENST00000384632,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000468709,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000482452,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000473842,;CWF19L1,intron_variant,,ENST00000496796,;CWF19L1,intron_variant,,ENST00000466955,;	224	447	365	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17363216	17363216	+	synonymous_variant	Silent	SNP	C	C	G	rs748390143	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	90	202	0	ENST00000377602.4:c.858G>C	p.Thr286=	p.T286=	ENST00000377602	NM_001004470.1	286	acG/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31158.1	858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGCGTGTA	NONE	.	.	hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000366827	.	8/8	.	.	.	.	.	.	.	.	rs748390143	8/8	PASS	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	SNV	ST8SIA6,synonymous_variant,p.%3D,ENST00000377602,;ST8SIA6,synonymous_variant,p.%3D,ENST00000440449,;	933	202	233	SUCCESS
SFMBT2	57713	.	GRCh37	10	7212949	7212949	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	44	90	0	ENST00000361972.4:c.2485G>A	p.Val829Met	p.V829M	ENST00000361972	NM_001018039.1	829	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS31138.1	2485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCACGTCGG	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000355109	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,missense_variant,p.Val829Met,ENST00000361972,;SFMBT2,missense_variant,p.Val829Met,ENST00000397167,;	2576	90	139	SUCCESS
OR52R1	119695	.	GRCh37	11	4824698	4824698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	51	109	0	ENST00000356069.2:c.913A>G	p.Arg305Gly	p.R305G	ENST00000356069	NM_001005177.3	305	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS31360.2	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCTGTCCC	NONE	.	.	hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000348368	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356069	Transcript	.	.	ENSG00000176937	15235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	deleterious(0.01)	.	O52R1_HUMAN	OR52R1	HGNC	.	.	UPI0000140D5C	SNV	OR52R1,missense_variant,p.Arg384Gly,ENST00000380382,;OR52R1,missense_variant,p.Arg305Gly,ENST00000356069,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	913	109	138	SUCCESS
DAK	0	.	GRCh37	11	61113934	61113934	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	25	0	ENST00000394900.3:c.1687G>T	p.Ala563Ser	p.A563S	ENST00000394900	NM_015533.3	563	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8003.1	1687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGCTGCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51480,TIGRFAM_domain:TIGR02361,Pfam_domain:PF02734,Superfamily_domains:SSF101473	.	.	ENSP00000378360	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000394900	Transcript	.	.	ENSG00000149476	24552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	DHAK_HUMAN	DAK	HGNC	E9PQR1_HUMAN,E9PJG8_HUMAN	.	UPI00000718B9	SNV	DAK,missense_variant,p.Ala563Ser,ENST00000394900,;DAK,3_prime_UTR_variant,,ENST00000529479,;DAK,intron_variant,,ENST00000534084,;CYB561A3,downstream_gene_variant,,ENST00000426130,;CYB561A3,downstream_gene_variant,,ENST00000294072,;CYB561A3,downstream_gene_variant,,ENST00000546151,;CYB561A3,downstream_gene_variant,,ENST00000542361,;CYB561A3,downstream_gene_variant,,ENST00000536915,;CYB561A3,downstream_gene_variant,,ENST00000447532,;CYB561A3,downstream_gene_variant,,ENST00000539890,;CYB561A3,downstream_gene_variant,,ENST00000540139,;CYB561A3,downstream_gene_variant,,ENST00000544118,;CYB561A3,downstream_gene_variant,,ENST00000540317,;DAK,non_coding_transcript_exon_variant,,ENST00000525366,;DAK,downstream_gene_variant,,ENST00000534134,;CYB561A3,downstream_gene_variant,,ENST00000536452,;DAK,downstream_gene_variant,,ENST00000528061,;CYB561A3,downstream_gene_variant,,ENST00000540755,;DAK,downstream_gene_variant,,ENST00000524953,;DAK,downstream_gene_variant,,ENST00000524440,;DAK,downstream_gene_variant,,ENST00000534370,;DDB1,upstream_gene_variant,,ENST00000540166,;DAK,downstream_gene_variant,,ENST00000530329,;DAK,downstream_gene_variant,,ENST00000533853,;	1916	25	26	SUCCESS
MAP4K2	5871	.	GRCh37	11	64567661	64567661	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764475692	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	31	0	ENST00000294066.2:c.835C>T	p.Arg279Trp	p.R279W	ENST00000294066	NM_004579.3	279	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8082.1	835	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGAGGGA	NONE	byFrequency	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	.	.	ENSP00000294066	.	12/32	.	.	.	.	.	.	.	.	rs764475692	12/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.642)	.	deleterious(0.03)	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,missense_variant,p.Arg279Trp,ENST00000377350,;MAP4K2,missense_variant,p.Arg279Trp,ENST00000294066,;MAP4K2,missense_variant,p.Arg235Trp,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000443283,;MEN1,downstream_gene_variant,,ENST00000394374,;MEN1,downstream_gene_variant,,ENST00000377326,;MEN1,downstream_gene_variant,,ENST00000394376,;MEN1,downstream_gene_variant,,ENST00000377316,;MEN1,downstream_gene_variant,,ENST00000315422,;MEN1,downstream_gene_variant,,ENST00000312049,;MEN1,downstream_gene_variant,,ENST00000377321,;MEN1,downstream_gene_variant,,ENST00000377313,;MEN1,downstream_gene_variant,,ENST00000337652,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000493428,;MEN1,downstream_gene_variant,,ENST00000478548,;MEN1,downstream_gene_variant,,ENST00000487019,;MAP4K2,downstream_gene_variant,,ENST00000482314,;MAP4K2,downstream_gene_variant,,ENST00000468062,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,upstream_gene_variant,,ENST00000424945,;MAP4K2,upstream_gene_variant,,ENST00000467689,;MAP4K2,downstream_gene_variant,,ENST00000444560,;MAP4K2,upstream_gene_variant,,ENST00000489952,;MAP4K2,upstream_gene_variant,,ENST00000470088,;	927	31	24	SUCCESS
NLRP14	338323	.	GRCh37	11	7091576	7091576	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755118452	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	66	0	ENST00000299481.4:c.3035G>A	p.Cys1012Tyr	p.C1012Y	ENST00000299481	NM_176822.3	1012	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS7776.1	3035	RADIA|MUTECT|MUSE	.	TATCTGCAACA	NONE	byFrequency	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106:SF82,hmmpanther:PTHR24106	.	.	ENSP00000299481	.	11/12	.	.	.	.	.	.	.	.	rs755118452	11/12	PASS	ENST00000299481	Transcript	.	.	ENSG00000158077	22939	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(1)	.	NAL14_HUMAN	NLRP14	HGNC	.	.	UPI0000167F6E	SNV	NLRP14,missense_variant,p.Cys1012Tyr,ENST00000299481,;	3381	66	92	SUCCESS
HSP90B1	7184	.	GRCh37	12	104337556	104337556	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754939231	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	86	0	ENST00000299767.5:c.1931C>A	p.Pro644Gln	p.P644Q	ENST00000299767	NM_003299.2	644	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS9094.1	1931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCGTGTG	NONE	byFrequency	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF44,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:0043579	.	.	ENSP00000299767	.	14/18	.	.	.	.	.	.	.	.	rs754939231	14/18	PASS	ENST00000299767	Transcript	.	.	ENSG00000166598	12028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ENPL_HUMAN	HSP90B1	HGNC	Q5CAQ5_HUMAN,F8W026_HUMAN,B4DHT9_HUMAN	.	UPI0000129FBA	SNV	HSP90B1,missense_variant,p.Pro644Gln,ENST00000299767,;HSP90B1,upstream_gene_variant,,ENST00000550595,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000548462,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000552051,;HSP90B1,downstream_gene_variant,,ENST00000550479,;HSP90B1,downstream_gene_variant,,ENST00000551983,;	2113	86	81	SUCCESS
KRT81	3887	.	GRCh37	12	52681039	52681039	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760672911	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	20	84	0	ENST00000327741.5:c.1094G>A	p.Arg365His	p.R365H	ENST00000327741	NM_002281.3	365	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS31805.1	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCGGGCA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF143,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000369349	.	7/9	.	.	.	.	.	.	.	.	rs760672911	7/9	PASS	ENST00000327741	Transcript	.	.	ENSG00000205426	6458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	tolerated(0.07)	.	KRT81_HUMAN	KRT81	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000DBEEF8	SNV	KRT81,missense_variant,p.Arg365His,ENST00000327741,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;	1163	84	86	SUCCESS
KRT1	3848	.	GRCh37	12	53072520	53072520	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	47	1	ENST00000252244.3:c.612G>A	p.Gln204=	p.Q204=	ENST00000252244	NM_006121.3	204	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8836.1	612	MUTECT|SOMATICSNIPER|VARSCANS	.	TGGTTCTGCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF95,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000252244	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,synonymous_variant,p.%3D,ENST00000252244,;KRT1,upstream_gene_variant,,ENST00000548765,;	671	48	55	SUCCESS
BAZ2A	11176	.	GRCh37	12	56995571	56995571	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs367656362	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	68	0	ENST00000551812.1:c.3836A>G	p.His1279Arg	p.H1279R	ENST00000551812	NM_013449.3	1279	cAt/cGt	0	C:0	.	.	.	.	C	H/R	protein_coding	YES	CCDS44924.1	3836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTATGGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141	.	C:0.0001	ENSP00000446880	.	20/29	.	.	.	.	.	.	.	.	rs367656362	20/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.49)	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,missense_variant,p.His1249Arg,ENST00000379441,;BAZ2A,missense_variant,p.His215Arg,ENST00000549787,;BAZ2A,missense_variant,p.His1247Arg,ENST00000179765,;BAZ2A,missense_variant,p.His1279Arg,ENST00000551812,;BAZ2A,missense_variant,p.His1277Arg,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000551759,;BAZ2A,downstream_gene_variant,,ENST00000548578,;	4030	68	102	SUCCESS
CPSF2	53981	.	GRCh37	14	92621491	92621491	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	10	108	1	ENST00000298875.4:c.1266G>T	p.Glu422Asp	p.E422D	ENST00000298875	NM_017437.2	422	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS9902.1	1266	MUTECT|MUSE|VARSCANS	.	GATGAGAGTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5	.	.	ENSP00000298875	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000298875	Transcript	.	.	ENSG00000165934	2325	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.41)	.	CPSF2_HUMAN	CPSF2	HGNC	G3V3T7_HUMAN,B3KN45_HUMAN	.	UPI0000185F22	SNV	CPSF2,missense_variant,p.Glu422Asp,ENST00000298875,;CPSF2,upstream_gene_variant,,ENST00000555244,;CPSF2,non_coding_transcript_exon_variant,,ENST00000556622,;	1551	109	128	SUCCESS
GABRG3	2567	.	GRCh37	15	27216535	27216535	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	22	0	ENST00000333743.6:c.-148G>T		p.*50*	ENST00000333743	NM_033223.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45195.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGCGCCA	NONE	.	.	.	.	.	ENSP00000331912	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,5_prime_UTR_variant,,ENST00000333743,;GABRG3,upstream_gene_variant,,ENST00000555083,;GABRG3,upstream_gene_variant,,ENST00000553440,;TVP23BP1,downstream_gene_variant,,ENST00000557500,;	107	22	23	SUCCESS
EXD1	161829	.	GRCh37	15	41476594	41476594	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	19	97	0	ENST00000314992.5:c.1080T>C	p.Phe360=	p.F360=	ENST00000314992	NM_152596.2	360	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS10072.1	1080	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTAAAATT	NONE	.	.	hmmpanther:PTHR12124:SF39,hmmpanther:PTHR12124	.	.	ENSP00000321029	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000314992	Transcript	.	.	ENSG00000178997	28507	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EXD1_HUMAN	EXD1	HGNC	.	.	UPI00001BBFD3	SNV	EXD1,synonymous_variant,p.%3D,ENST00000458580,;EXD1,synonymous_variant,p.%3D,ENST00000314992,;EXD1,non_coding_transcript_exon_variant,,ENST00000558881,;	1271	97	148	SUCCESS
PDE8A	5151	.	GRCh37	15	85634396	85634396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	71	164	0	ENST00000310298.4:c.836G>T	p.Cys279Phe	p.C279F	ENST00000310298		279	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS10336.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGCATCA	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Pfam_domain:PF00989,TIGRFAM_domain:TIGR00229,Gene3D:3.30.450.20,Superfamily_domains:SSF55785	.	.	ENSP00000311453	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.591)	.	tolerated(0.7)	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,missense_variant,p.Cys279Phe,ENST00000394553,;PDE8A,missense_variant,p.Cys279Phe,ENST00000310298,;PDE8A,missense_variant,p.Cys207Phe,ENST00000557957,;PDE8A,intron_variant,,ENST00000339708,;PDE8A,intron_variant,,ENST00000557819,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,intron_variant,,ENST00000559086,;PDE8A,intron_variant,,ENST00000560789,;PDE8A,intron_variant,,ENST00000559742,;	1088	164	252	SUCCESS
HEATR3	55027	.	GRCh37	16	50104098	50104098	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	49	93	1	ENST00000299192.7:c.409G>T	p.Gly137Ter	p.G137*	ENST00000299192	NM_182922.2	137	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS10739.1	409	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGCTGGACTG	NONE	.	.	hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000299192	.	4/15	.	.	.	.	.	.	.	.	COSM3720036	4/15	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,stop_gained,p.Gly137Ter,ENST00000299192,;HEATR3,stop_gained,p.Gly51Ter,ENST00000285767,;RP11-429P3.3,upstream_gene_variant,,ENST00000568130,;HEATR3,non_coding_transcript_exon_variant,,ENST00000561819,;HEATR3,downstream_gene_variant,,ENST00000569324,;	600	95	156	SUCCESS
HEATR3	55027	.	GRCh37	16	50104099	50104099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	50	97	1	ENST00000299192.7:c.410G>T	p.Gly137Val	p.G137V	ENST00000299192	NM_182922.2	137	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10739.1	410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGACTGG	NONE	.	.	hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000299192	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	deleterious(0.02)	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,missense_variant,p.Gly137Val,ENST00000299192,;HEATR3,missense_variant,p.Gly51Val,ENST00000285767,;RP11-429P3.3,upstream_gene_variant,,ENST00000568130,;HEATR3,non_coding_transcript_exon_variant,,ENST00000561819,;HEATR3,downstream_gene_variant,,ENST00000569324,;	601	98	159	SUCCESS
STUB1	10273	.	GRCh37	16	731861	731892	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CCTGCATTGAGGCCAAGCACGTGAGGGTGCCC	CCTGCATTGAGGCCAAGCACGTGAGGGTGCCC	-	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	CCTGCATTGAGGCCAAGCACGTGAGGGTGCCC	CCTGCATTGAGGCCAAGCACGTGAGGGTGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	125	50	142	0	ENST00000219548.4:c.595_612+14del		p.X199_splice	ENST00000219548	NM_005861.2	199		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10419.1	593-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCAC	NONE	.	.	.	.	.	ENSP00000219548	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000219548	Transcript	.	.	ENSG00000103266	11427	2	.	HIGH	4/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHIP_HUMAN	STUB1	HGNC	.	.	UPI000006E1B4	deletion	STUB1,splice_donor_variant,,ENST00000565677,;STUB1,splice_donor_variant,,ENST00000567173,;STUB1,splice_donor_variant,,ENST00000219548,;STUB1,splice_donor_variant,,ENST00000564316,;STUB1,splice_donor_variant,,ENST00000564370,;STUB1,splice_donor_variant,,ENST00000566408,;JMJD8,3_prime_UTR_variant,,ENST00000609261,;JMJD8,3_prime_UTR_variant,,ENST00000454700,;JMJD8,3_prime_UTR_variant,,ENST00000293882,;JMJD8,3_prime_UTR_variant,,ENST00000412368,;JMJD8,downstream_gene_variant,,ENST00000562111,;JMJD8,downstream_gene_variant,,ENST00000562824,;RHBDL1,downstream_gene_variant,,ENST00000352681,;RHBDL1,downstream_gene_variant,,ENST00000561556,;WDR24,downstream_gene_variant,,ENST00000293883,;RHBDL1,downstream_gene_variant,,ENST00000219551,;WDR24,downstream_gene_variant,,ENST00000248142,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,non_coding_transcript_exon_variant,,ENST00000566181,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;STUB1,non_coding_transcript_exon_variant,,ENST00000569248,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;STUB1,non_coding_transcript_exon_variant,,ENST00000563505,;STUB1,upstream_gene_variant,,ENST00000565813,;JMJD8,downstream_gene_variant,,ENST00000565258,;JMJD8,downstream_gene_variant,,ENST00000569396,;JMJD8,downstream_gene_variant,,ENST00000563088,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000566199,;JMJD8,downstream_gene_variant,,ENST00000568313,;JMJD8,downstream_gene_variant,,ENST00000570037,;WDR24,downstream_gene_variant,,ENST00000567014,;STUB1,downstream_gene_variant,,ENST00000567790,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000564436,;JMJD8,downstream_gene_variant,,ENST00000567901,;	843-?	142	175	SUCCESS
C16orf3	0	.	GRCh37	16	90095872	90095872	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	50	1	ENST00000408886.2:c.-122A>C		p.*41*	ENST00000408886	NM_001214.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32518.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTCAACA	NONE	.	.	.	.	.	ENSP00000386218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408886	Transcript	.	.	ENSG00000221819	1197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP003_HUMAN	C16orf3	HGNC	.	.	UPI000013FDC7	SNV	C16orf3,5_prime_UTR_variant,,ENST00000408886,;GAS8,intron_variant,,ENST00000563936,;GAS8,intron_variant,,ENST00000268699,;GAS8,intron_variant,,ENST00000561675,;GAS8,intron_variant,,ENST00000536122,;GAS8,intron_variant,,ENST00000564392,;GAS8,intron_variant,,ENST00000563980,;GAS8,intron_variant,,ENST00000565957,;GAS8,intron_variant,,ENST00000568705,;GAS8,intron_variant,,ENST00000568664,;GAS8,intron_variant,,ENST00000540721,;GAS8,intron_variant,,ENST00000565062,;GAS8,intron_variant,,ENST00000566266,;GAS8,intron_variant,,ENST00000537797,;GAS8,downstream_gene_variant,,ENST00000564853,;GAS8,upstream_gene_variant,,ENST00000569558,;	438	51	82	SUCCESS
PTRF	0	.	GRCh37	17	40556985	40556985	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144331065	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	78	0	ENST00000357037.5:c.893G>A	p.Arg298His	p.R298H	ENST00000357037	NM_012232.5	298	cGc/cAc	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS11425.1	893	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGCGCAAC	NONE	byCluster	.	hmmpanther:PTHR15240:SF3,hmmpanther:PTHR15240,Pfam_domain:PF15237	.	T:0	ENSP00000349541	.	2/2	.	.	.	.	.	.	.	.	rs144331065,COSM303058	2/2	PASS	ENST00000357037	Transcript	.	.	ENSG00000177469	9688	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.984)	.	deleterious(0.01)	0,1	PTRF_HUMAN	PTRF	HGNC	.	.	UPI00001AF3C2	SNV	PTRF,missense_variant,p.Arg298His,ENST00000357037,;	1313	78	97	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	84	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	84	77	SUCCESS
AATK	9625	.	GRCh37	17	79093297	79093297	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762246513	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	46	128	0	ENST00000326724.4:c.3967G>A	p.Ala1323Thr	p.A1323T	ENST00000326724	NM_001080395.2	1323	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45807.1	3967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCGGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417	.	.	ENSP00000324196	.	13/14	.	.	.	.	.	.	.	.	rs762246513	13/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.46)	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,missense_variant,p.Ala1323Thr,ENST00000326724,;AATK,missense_variant,p.Ala1220Thr,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000575245,;BAIAP2,downstream_gene_variant,,ENST00000392411,;BAIAP2,downstream_gene_variant,,ENST00000428708,;BAIAP2,downstream_gene_variant,,ENST00000435091,;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000321300,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	3992	128	161	SUCCESS
ZBTB7C	201501	.	GRCh37	18	45555810	45555810	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775360190	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	49	0	ENST00000535628.2:c.1681C>T	p.Arg561Cys	p.R561C	ENST00000535628	NM_001039360.2	561	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32830.1	1681	RADIA|MUTECT|MUSE	.	CGCGCGCCCGA	NONE	byFrequency	.	hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389	.	.	ENSP00000468782	.	4/4	.	.	.	.	.	.	.	.	rs775360190	4/4	PASS	ENST00000588982	Transcript	.	.	ENSG00000184828	31700	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	deleterious_low_confidence(0.04)	.	ZBT7C_HUMAN	ZBTB7C	HGNC	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN	.	UPI0000073FE3	SNV	ZBTB7C,missense_variant,p.Arg561Cys,ENST00000590800,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000586438,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000332053,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000588982,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000535628,;	2183	49	81	SUCCESS
L3MBTL4	91133	.	GRCh37	18	6138227	6138227	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	86	0	ENST00000284898.6:c.1165C>T	p.His389Tyr	p.H389Y	ENST00000284898	NM_173464.3	389	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS11839.2	1165	MUTECT|MUSE	.	GATATGGCCTA	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF78,Pfam_domain:PF01530,Superfamily_domains:SSF63748	.	.	ENSP00000284898	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000284898	Transcript	.	.	ENSG00000154655	26677	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LMBL4_HUMAN	L3MBTL4	HGNC	J3QLK8_HUMAN,J3KS41_HUMAN,J3KRN7_HUMAN	.	UPI000013DDC0	SNV	L3MBTL4,missense_variant,p.His389Tyr,ENST00000317931,;L3MBTL4,missense_variant,p.His389Tyr,ENST00000284898,;L3MBTL4,missense_variant,p.His389Tyr,ENST00000400105,;L3MBTL4,missense_variant,p.His389Tyr,ENST00000400104,;L3MBTL4,missense_variant,p.His202Tyr,ENST00000535782,;	1366	86	78	SUCCESS
KEAP1	9817	.	GRCh37	19	10602490	10602514	+	frameshift_variant	Frame_Shift_Del	DEL	CTCCGCGGCACCTGCAGGTCCGCCA	CTCCGCGGCACCTGCAGGTCCGCCA	-	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	CTCCGCGGCACCTGCAGGTCCGCCA	CTCCGCGGCACCTGCAGGTCCGCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	31	39	98	0	ENST00000171111.5:c.1064_1088del	p.Leu355SerfsTer37	p.L355Sfs*37	ENST00000171111	NM_203500.1	355	tTGGCGGACCTGCAGGTGCCGCGGAGc/tc	0	.	.	.	.	.	-	LADLQVPRS/X	protein_coding	YES	CCDS12239.1	1064-1088	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCCGCTCCGCGGCACCTGCAGGTCCGCCAACCGG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	deletion	KEAP1,frameshift_variant,p.Leu355SerfsTer37,ENST00000393623,;KEAP1,frameshift_variant,p.Leu355SerfsTer37,ENST00000171111,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,frameshift_variant,p.Leu15SerfsTer37,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	1612-1636	98	70	SUCCESS
DNAJB1	3337	.	GRCh37	19	14627395	14627395	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775147909	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	77	0	ENST00000254322.2:c.675C>A	p.Asp225Glu	p.D225E	ENST00000254322	NM_006145.1	225	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS12312.1	675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGTCTCC	NONE	.	.	hmmpanther:PTHR24077:SF207,hmmpanther:PTHR24077,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	.	.	ENSP00000254322	.	2/3	.	.	.	.	.	.	.	.	rs775147909,COSM3937896	2/3	PASS	ENST00000254322	Transcript	1	.	ENSG00000132002	5270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	DNJB1_HUMAN	DNAJB1	HGNC	Q6FHS4_HUMAN,M0R1D6_HUMAN,M0R128_HUMAN,M0R080_HUMAN,M0QZD0_HUMAN,M0QYT3_HUMAN,B4DX52_HUMAN	.	UPI0000000C3A	SNV	DNAJB1,missense_variant,p.Asp125Glu,ENST00000598235,;DNAJB1,missense_variant,p.Asp225Glu,ENST00000254322,;DNAJB1,missense_variant,p.Asp125Glu,ENST00000396969,;DNAJB1,missense_variant,p.Asp158Glu,ENST00000595139,;DNAJB1,downstream_gene_variant,,ENST00000594099,;DNAJB1,downstream_gene_variant,,ENST00000598692,;DNAJB1,downstream_gene_variant,,ENST00000596853,;DNAJB1,downstream_gene_variant,,ENST00000596075,;DNAJB1,downstream_gene_variant,,ENST00000601533,;DNAJB1,downstream_gene_variant,,ENST00000595992,;TECR,upstream_gene_variant,,ENST00000600076,;	746	77	50	SUCCESS
EMR3	0	.	GRCh37	19	14785661	14785661	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	55	0	ENST00000253673.5:c.-79G>T		p.*27*	ENST00000253673	NM_032571.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12315.1	.	MUTECT|MUSE	.	TAGCTCAAGAA	NONE	.	.	.	.	.	ENSP00000253673	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,5_prime_UTR_variant,,ENST00000595472,;EMR3,5_prime_UTR_variant,,ENST00000253673,;EMR3,5_prime_UTR_variant,,ENST00000344373,;EMR3,intron_variant,,ENST00000599900,;EMR3,upstream_gene_variant,,ENST00000443157,;	23	55	57	SUCCESS
HIPK4	147746	.	GRCh37	19	40885567	40885567	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	27	0	ENST00000291823.2:c.1778C>A	p.Pro593His	p.P593H	ENST00000291823	NM_144685.3	593	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS12555.1	1778	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGGTGGG	NONE	.	.	.	.	.	ENSP00000291823	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000291823	Transcript	.	.	ENSG00000160396	19007	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	deleterious_low_confidence(0)	.	HIPK4_HUMAN	HIPK4	HGNC	B4DWX2_HUMAN	.	UPI000006DCD3	SNV	HIPK4,missense_variant,p.Pro593His,ENST00000291823,;PLD3,downstream_gene_variant,,ENST00000409281,;PLD3,downstream_gene_variant,,ENST00000409419,;PLD3,downstream_gene_variant,,ENST00000409587,;PLD3,downstream_gene_variant,,ENST00000596470,;PLD3,downstream_gene_variant,,ENST00000409735,;PLD3,downstream_gene_variant,,ENST00000356508,;PLD3,intron_variant,,ENST00000486134,;PLD3,downstream_gene_variant,,ENST00000475983,;PLD3,downstream_gene_variant,,ENST00000488311,;	2063	27	39	SUCCESS
LILRA4	23547	.	GRCh37	19	54849337	54849337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	59	119	0	ENST00000291759.4:c.525G>T	p.Lys175Asn	p.K175N	ENST00000291759	NM_012276.3	175	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS12890.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACTTTCC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,PIRSF_domain:PIRSF001979,Pfam_domain:PF13927,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF98,PROSITE_profiles:PS50835	.	.	ENSP00000291759	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000291759	Transcript	.	.	ENSG00000239961	15503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.06)	.	LIRA4_HUMAN	LILRA4	HGNC	.	.	UPI0000202BCD	SNV	LILRA4,missense_variant,p.Lys175Asn,ENST00000291759,;AC008984.2,upstream_gene_variant,,ENST00000507363,;LILRA4,downstream_gene_variant,,ENST00000421056,;LILRA4,upstream_gene_variant,,ENST00000595581,;	582	119	149	SUCCESS
NES	10763	.	GRCh37	1	156640363	156640363	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754373045	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	89	0	ENST00000368223.3:c.3617G>T	p.Gly1206Val	p.G1206V	ENST00000368223	NM_006617.1	1206	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1151.1	3617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCCCAGA	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	rs754373045	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	deleterious(0)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Gly1206Val,ENST00000368223,;	3750	89	78	SUCCESS
FCRL4	83417	.	GRCh37	1	157559113	157559113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	75	188	0	ENST00000271532.1:c.188G>T	p.Trp63Leu	p.W63L	ENST00000271532	NM_031282.2	63	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS1166.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGTAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF50,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271532	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000271532	Transcript	.	.	ENSG00000163518	18507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.65)	.	FCRL4_HUMAN	FCRL4	HGNC	.	.	UPI000006E26B	SNV	FCRL4,missense_variant,p.Trp63Leu,ENST00000271532,;FCRL4,upstream_gene_variant,,ENST00000448509,;	324	188	233	SUCCESS
PYHIN1	149628	.	GRCh37	1	158909466	158909466	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	45	0	ENST00000368140.1:c.579+429C>A		p.*193*	ENST00000368140	NM_152501.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1178.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCCCAAT	NONE	.	.	.	.	.	ENSP00000357122	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODIFIER	4/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,3_prime_UTR_variant,,ENST00000368135,;PYHIN1,intron_variant,,ENST00000392254,;PYHIN1,intron_variant,,ENST00000368140,;PYHIN1,intron_variant,,ENST00000392252,;PYHIN1,intron_variant,,ENST00000368138,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,upstream_gene_variant,,ENST00000485134,;	.	45	48	SUCCESS
RXRG	6258	.	GRCh37	1	165386442	165386442	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	47	122	0	ENST00000359842.5:c.458T>C	p.Val153Ala	p.V153A	ENST00000359842	NM_001256570.1	153	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS1248.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATACCCCG	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF83,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000352900	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000359842	Transcript	.	.	ENSG00000143171	10479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	RXRG_HUMAN	RXRG	HGNC	F1D8Q7_HUMAN	.	UPI000004989F	SNV	RXRG,missense_variant,p.Val153Ala,ENST00000359842,;RXRG,non_coding_transcript_exon_variant,,ENST00000470566,;	761	122	145	SUCCESS
ASTN1	460	.	GRCh37	1	176918372	176918372	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	7	52	0	ENST00000361833.2:c.2003T>G	p.Met668Arg	p.M668R	ENST00000361833		668	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS1319.1	2003	MUTECT|MUSE|VARSCANS	.	GCGCCATCTGC	NONE	.	.	SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF14670,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.101)	.	deleterious(0.01)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Met676Arg,ENST00000367654,;ASTN1,missense_variant,p.Met668Arg,ENST00000424564,;ASTN1,missense_variant,p.Met668Arg,ENST00000361833,;ASTN1,missense_variant,p.Met668Arg,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	2017	52	85	SUCCESS
OBSCN	84033	.	GRCh37	1	228506637	228506637	+	synonymous_variant	Silent	SNP	C	C	A	rs756685253	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	95	0	ENST00000422127.1:c.14184C>A	p.Pro4728=	p.P4728=	ENST00000422127	NM_001098623.2	4728	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS59204.1	17055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCGAGGC	NONE	byFrequency	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	65/116	.	.	.	.	.	.	.	.	rs756685253	65/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	17129	95	134	SUCCESS
UBE2U	148581	.	GRCh37	1	64669583	64669583	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	32	0	ENST00000371076.3:c.-151C>G		p.*51*	ENST00000371076	NM_152489.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS627.1	.	MUTECT|MUSE	.	AGAAGCCGCTT	NONE	.	.	.	.	.	ENSP00000360116	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000371076	Transcript	.	.	ENSG00000177414	28559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBE2U_HUMAN	UBE2U	HGNC	.	.	UPI000006E065	SNV	UBE2U,5_prime_UTR_variant,,ENST00000371076,;UBE2U,5_prime_UTR_variant,,ENST00000371077,;	94	32	49	SUCCESS
TNFRSF25	8718	.	GRCh37	1	6524730	6524730	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	78	0	ENST00000356876.3:c.345T>C	p.Cys115=	p.C115=	ENST00000356876	NM_003790.2	115	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS72.1	345	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCACAGCG	NONE	.	.	Superfamily_domains:SSF57586,SMART_domains:SM00208,Gene3D:2.10.50.10,PROSITE_patterns:PS00652,hmmpanther:PTHR23097:SF104,hmmpanther:PTHR23097,PROSITE_profiles:PS50050	.	.	ENSP00000367013	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000377782	Transcript	.	.	ENSG00000215788	11910	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNR25_HUMAN	TNFRSF25	HGNC	B3KSV7_HUMAN	.	UPI000002B5CB	SNV	TNFRSF25,synonymous_variant,p.%3D,ENST00000356876,;TNFRSF25,synonymous_variant,p.%3D,ENST00000348333,;TNFRSF25,synonymous_variant,p.%3D,ENST00000351959,;TNFRSF25,synonymous_variant,p.%3D,ENST00000377782,;TNFRSF25,5_prime_UTR_variant,,ENST00000481401,;TNFRSF25,intron_variant,,ENST00000351748,;PLEKHG5,downstream_gene_variant,,ENST00000377725,;PLEKHG5,downstream_gene_variant,,ENST00000400913,;PLEKHG5,downstream_gene_variant,,ENST00000535355,;PLEKHG5,downstream_gene_variant,,ENST00000340850,;PLEKHG5,downstream_gene_variant,,ENST00000400915,;PLEKHG5,downstream_gene_variant,,ENST00000377737,;PLEKHG5,downstream_gene_variant,,ENST00000537245,;PLEKHG5,downstream_gene_variant,,ENST00000544978,;ESPN,downstream_gene_variant,,ENST00000434576,;ESPN,downstream_gene_variant,,ENST00000416731,;ESPN,downstream_gene_variant,,ENST00000377828,;PLEKHG5,downstream_gene_variant,,ENST00000377748,;ESPN,downstream_gene_variant,,ENST00000461727,;PLEKHG5,downstream_gene_variant,,ENST00000377740,;PLEKHG5,downstream_gene_variant,,ENST00000377732,;PLEKHG5,downstream_gene_variant,,ENST00000377728,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000461703,;ESPN,downstream_gene_variant,,ENST00000468561,;TNFRSF25,upstream_gene_variant,,ENST00000475730,;ESPN,downstream_gene_variant,,ENST00000475228,;TNFRSF25,synonymous_variant,p.%3D,ENST00000485036,;TNFRSF25,synonymous_variant,p.%3D,ENST00000480393,;TNFRSF25,synonymous_variant,p.%3D,ENST00000502588,;TNFRSF25,synonymous_variant,p.%3D,ENST00000414040,;TNFRSF25,synonymous_variant,p.%3D,ENST00000510563,;TNFRSF25,synonymous_variant,p.%3D,ENST00000502730,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000515145,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000453341,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000469691,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000453260,;PLEKHG5,downstream_gene_variant,,ENST00000489097,;PLEKHG5,downstream_gene_variant,,ENST00000487949,;ESPN,downstream_gene_variant,,ENST00000477679,;TNFRSF25,upstream_gene_variant,,ENST00000473343,;	413	78	125	SUCCESS
LPHN2	0	.	GRCh37	1	82302739	82302739	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	24	77	0	ENST00000370717.2:c.70G>A	p.Glu24Lys	p.E24K	ENST00000370717		24	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS689.1	70	RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGAAGGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011	.	.	ENSP00000322270	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.32)	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,missense_variant,p.Glu24Lys,ENST00000370725,;LPHN2,missense_variant,p.Glu24Lys,ENST00000319517,;LPHN2,missense_variant,p.Glu24Lys,ENST00000271029,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370730,;LPHN2,missense_variant,p.Glu24Lys,ENST00000335786,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370715,;LPHN2,missense_variant,p.Glu24Lys,ENST00000359929,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370728,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370713,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370723,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370717,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370721,;LPHN2,missense_variant,p.Glu24Lys,ENST00000394879,;LPHN2,missense_variant,p.Glu24Lys,ENST00000370727,;LPHN2,non_coding_transcript_exon_variant,,ENST00000469377,;	286	77	162	SUCCESS
ZNF326	284695	.	GRCh37	1	90473296	90473296	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	56	111	0	ENST00000340281.4:c.602G>T	p.Gly201Val	p.G201V	ENST00000340281	NM_182976.2	201	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS727.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGCCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12190:SF1,hmmpanther:PTHR12190	.	.	ENSP00000340796	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000340281	Transcript	.	.	ENSG00000162664	14104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	ZN326_HUMAN	ZNF326	HGNC	.	.	UPI0000160AB2	SNV	ZNF326,missense_variant,p.Gly112Val,ENST00000370447,;ZNF326,missense_variant,p.Gly201Val,ENST00000340281,;ZNF326,intron_variant,,ENST00000455342,;ZNF326,downstream_gene_variant,,ENST00000361911,;ZNF326,intron_variant,,ENST00000394583,;	745	111	167	SUCCESS
DIDO1	11083	.	GRCh37	20	61510865	61510865	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762714731	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	71	0	ENST00000266070.4:c.6443A>G	p.Asp2148Gly	p.D2148G	ENST00000266070	NM_033081.2	2148	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33506.1	6443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTCCCAG	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	16/16	.	.	.	.	.	.	.	.	rs762714731	16/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.265)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Asp2148Gly,ENST00000266070,;DIDO1,missense_variant,p.Asp2148Gly,ENST00000395343,;	6769	71	93	SUCCESS
KRTAP13-3	337960	.	GRCh37	21	31798109	31798109	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	24	125	0	ENST00000390690.2:c.122G>T	p.Cys41Phe	p.C41F	ENST00000390690	NM_181622.1	41	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS13591.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCAGAGG	NONE	.	.	hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF12,Pfam_domain:PF05287	.	.	ENSP00000375109	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390690	Transcript	.	.	ENSG00000240432	18925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	tolerated(0.11)	.	KR133_HUMAN	KRTAP13-3	HGNC	.	.	UPI000003B46C	SNV	KRTAP13-3,missense_variant,p.Cys41Phe,ENST00000390690,;KRTAP13-4,upstream_gene_variant,,ENST00000334068,;	178	125	124	SUCCESS
SLC5A3	6526	.	GRCh37	21	35467629	35467629	+	synonymous_variant	Silent	SNP	C	C	T	rs1350675116	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	127	1	ENST00000381151.3:c.132C>T	p.Arg44=	p.R44=	ENST00000381151		44	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33549.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGCTCTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF123,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,synonymous_variant,p.%3D,ENST00000608209,;SLC5A3,synonymous_variant,p.%3D,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	644	128	99	SUCCESS
DOPEY2	0	.	GRCh37	21	37617781	37617781	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	61	0	ENST00000399151.3:c.3503A>T	p.Glu1168Val	p.E1168V	ENST00000399151	NM_005128.2	1168	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13643.1	3503	RADIA|MUTECT|MUSE	.	GTCAGAAAGCT	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.322)	.	deleterious(0.04)	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,missense_variant,p.Glu1168Val,ENST00000399151,;DOPEY2,upstream_gene_variant,,ENST00000463668,;	3588	61	61	SUCCESS
DOPEY2	0	.	GRCh37	21	37617797	37617797	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	52	0	ENST00000399151.3:c.3519G>T	p.Gly1173=	p.G1173=	ENST00000399151	NM_005128.2	1173	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13643.1	3519	RADIA|MUTECT|MUSE	.	GCTGGGGCCAA	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;DOPEY2,upstream_gene_variant,,ENST00000463668,;	3604	52	53	SUCCESS
SMTN	6525	.	GRCh37	22	31494787	31494787	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	106	0	ENST00000347557.2:c.2294A>G	p.Lys765Arg	p.K765R	ENST00000347557	NM_001207017.1	765	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS13887.1	2294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCAAGGCCA	NONE	.	.	hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915	.	.	ENSP00000351593	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000358743	Transcript	.	.	ENSG00000183963	11126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	SMTN_HUMAN	SMTN	HGNC	C9JP19_HUMAN,C9JGQ0_HUMAN	.	UPI00001B0272	SNV	SMTN,missense_variant,p.Lys166Arg,ENST00000455608,;SMTN,missense_variant,p.Lys765Arg,ENST00000333137,;SMTN,missense_variant,p.Lys765Arg,ENST00000358743,;SMTN,missense_variant,p.Lys288Arg,ENST00000404574,;SMTN,missense_variant,p.Lys765Arg,ENST00000347557,;SMTN,non_coding_transcript_exon_variant,,ENST00000493335,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,upstream_gene_variant,,ENST00000472911,;SMTN,upstream_gene_variant,,ENST00000504335,;	2512	106	68	SUCCESS
MGAT5	4249	.	GRCh37	2	135075151	135075151	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	54	0	ENST00000281923.2:c.458A>G	p.Tyr153Cys	p.Y153C	ENST00000281923	NM_002410.4	153	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2171.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTACCCTC	NONE	.	.	hmmpanther:PTHR15075:SF3,hmmpanther:PTHR15075	.	.	ENSP00000386377	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000409645	Transcript	.	.	ENSG00000152127	7049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	deleterious(0)	.	MGT5A_HUMAN	MGAT5	HGNC	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN	.	UPI0000049D8F	SNV	MGAT5,missense_variant,p.Tyr153Cys,ENST00000281923,;MGAT5,missense_variant,p.Tyr153Cys,ENST00000409645,;AC016906.1,downstream_gene_variant,,ENST00000415977,;	710	54	70	SUCCESS
LY75	4065	.	GRCh37	2	160708822	160708822	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	48	121	0	ENST00000263636.4:c.2773A>T	p.Lys925Ter	p.K925*	ENST00000263636	NM_002349.3	925	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS56141.1	2773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTTGGTAC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	21/39	.	.	.	.	.	.	.	.	.	21/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,stop_gained,p.Lys925Ter,ENST00000504764,;LY75,stop_gained,p.Lys925Ter,ENST00000553424,;LY75,stop_gained,p.Lys925Ter,ENST00000554112,;LY75,stop_gained,p.Lys925Ter,ENST00000263636,;LY75-CD302,stop_gained,p.Lys925Ter,ENST00000505052,;	2801	121	151	SUCCESS
TTN	7273	.	GRCh37	2	179474818	179474818	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	67	0	ENST00000591111.1:c.46512G>T	p.Lys15504Asn	p.K15504N	ENST00000591111		15504	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS59435.1	51435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACGCTTTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	271/363	.	.	.	.	.	.	.	.	.	271/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys8205Asn,ENST00000359218,;TTN,missense_variant,p.Lys15504Asn,ENST00000591111,;TTN,missense_variant,p.Lys17145Asn,ENST00000589042,;TTN,missense_variant,p.Lys14577Asn,ENST00000342992,;TTN,missense_variant,p.Lys8272Asn,ENST00000342175,;TTN,missense_variant,p.Lys8080Asn,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;	51660	67	91	SUCCESS
TTN	7273	.	GRCh37	2	179478476	179478476	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	79	0	ENST00000591111.1:c.44609+2T>A		p.X14870_splice	ENST00000591111		14870		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	MUTECT|MUSE	.	AGCATACCTGT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	263/362	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,splice_donor_variant,,ENST00000359218,;TTN,splice_donor_variant,,ENST00000591111,;TTN,splice_donor_variant,,ENST00000589042,;TTN,splice_donor_variant,,ENST00000342992,;TTN,splice_donor_variant,,ENST00000342175,;TTN,splice_donor_variant,,ENST00000460472,;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;	.	79	120	SUCCESS
ANKRD44	91526	.	GRCh37	2	197948210	197948210	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750473345	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	90	0	ENST00000282272.8:c.1316C>T	p.Ala439Val	p.A439V	ENST00000282272	NM_001195144.1	439	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	.	.	1265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCGCAGCT	NONE	byFrequency	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24158:SF19,hmmpanther:PTHR24158,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000338794	.	13/25	.	.	.	.	.	.	.	.	rs750473345	13/25	PASS	ENST00000337207	Transcript	.	.	ENSG00000065413	25259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	deleterious(0)	.	.	ANKRD44	HGNC	H7BXV4_HUMAN	.	UPI00015E0ACE	SNV	ANKRD44,missense_variant,p.Ala422Val,ENST00000337207,;ANKRD44,missense_variant,p.Ala262Val,ENST00000424317,;ANKRD44,missense_variant,p.Ala447Val,ENST00000409153,;ANKRD44,missense_variant,p.Ala122Val,ENST00000422886,;ANKRD44,missense_variant,p.Ala439Val,ENST00000282272,;ANKRD44,missense_variant,p.Ala375Val,ENST00000539527,;ANKRD44,missense_variant,p.Ala422Val,ENST00000450567,;ANKRD44,missense_variant,p.Ala422Val,ENST00000328737,;ANKRD44,non_coding_transcript_exon_variant,,ENST00000477852,;	1265	90	84	SUCCESS
CTDSP1	58190	.	GRCh37	2	219268014	219268014	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	83	0	ENST00000273062.2:c.531T>G	p.Phe177Leu	p.F177L	ENST00000273062	NM_021198.2	177	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS2416.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTTCGAGA	NONE	.	.	Superfamily_domains:SSF56784,SMART_domains:SM00577,Pfam_domain:PF03031,TIGRFAM_domain:TIGR02251,Gene3D:3.40.50.1000,hmmpanther:PTHR12210:SF41,hmmpanther:PTHR12210,PROSITE_profiles:PS50969	.	.	ENSP00000273062	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000273062	Transcript	.	.	ENSG00000144579	21614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CTDS1_HUMAN	CTDSP1	HGNC	.	.	UPI000013007C	SNV	CTDSP1,missense_variant,p.Phe170Leu,ENST00000452977,;CTDSP1,missense_variant,p.Phe177Leu,ENST00000273062,;CTDSP1,missense_variant,p.Phe178Leu,ENST00000428361,;CTDSP1,missense_variant,p.Phe176Leu,ENST00000443891,;CTDSP1,downstream_gene_variant,,ENST00000431127,;MIR26B,downstream_gene_variant,,ENST00000362251,;RP11-378A13.2,upstream_gene_variant,,ENST00000608367,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000491064,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000464255,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000473420,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000498160,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000488627,;CTDSP1,downstream_gene_variant,,ENST00000496785,;CTDSP1,downstream_gene_variant,,ENST00000492545,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000482272,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000497677,;CTDSP1,downstream_gene_variant,,ENST00000494067,;	867	83	116	SUCCESS
PTPRN	5798	.	GRCh37	2	220167459	220167459	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	34	85	0	ENST00000295718.2:c.478C>T	p.Pro160Ser	p.P160S	ENST00000295718	NM_002846.3	160	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS2440.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGGTTGTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2	.	.	ENSP00000295718	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000295718	Transcript	.	.	ENSG00000054356	9676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.17)	.	PTPRN_HUMAN	PTPRN	HGNC	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN	.	UPI0000132999	SNV	PTPRN,missense_variant,p.Pro70Ser,ENST00000412847,;PTPRN,missense_variant,p.Pro70Ser,ENST00000423636,;PTPRN,missense_variant,p.Pro127Ser,ENST00000440552,;PTPRN,missense_variant,p.Pro160Ser,ENST00000295718,;PTPRN,missense_variant,p.Pro70Ser,ENST00000442029,;PTPRN,missense_variant,p.Pro160Ser,ENST00000409251,;PTPRN,missense_variant,p.Pro70Ser,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,downstream_gene_variant,,ENST00000468454,;PTPRN,non_coding_transcript_exon_variant,,ENST00000476930,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,upstream_gene_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000477819,;PTPRN,downstream_gene_variant,,ENST00000484986,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,upstream_gene_variant,,ENST00000489650,;	719	85	115	SUCCESS
CEP68	23177	.	GRCh37	2	65309718	65309718	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	105	0	ENST00000377990.2:c.2153A>C	p.Glu718Ala	p.E718A	ENST00000377990	NM_015147.2	718	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS1880.2	2153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGAGAGCC	NONE	.	.	hmmpanther:PTHR14514,Gene3D:1.20.58.60,Superfamily_domains:SSF46966	.	.	ENSP00000367229	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000377990	Transcript	.	.	ENSG00000011523	29076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	CEP68_HUMAN	CEP68	HGNC	Q53RN6_HUMAN	.	UPI0000505465	SNV	CEP68,missense_variant,p.Glu581Ala,ENST00000260569,;CEP68,missense_variant,p.Glu718Ala,ENST00000377990,;CEP68,3_prime_UTR_variant,,ENST00000546106,;RAB1A,downstream_gene_variant,,ENST00000409892,;RAB1A,downstream_gene_variant,,ENST00000409784,;RAB1A,intron_variant,,ENST00000494188,;	2356	105	141	SUCCESS
MRPL19	9801	.	GRCh37	2	75881940	75881940	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	40	105	0	ENST00000393909.2:c.554A>G	p.Asp185Gly	p.D185G	ENST00000393909	NM_014763.3	185	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1960.2	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGATAGCT	NONE	.	.	hmmpanther:PTHR15680,hmmpanther:PTHR15680:SF9,Pfam_domain:PF01245,Superfamily_domains:SSF50104	.	.	ENSP00000377486	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000393909	Transcript	.	.	ENSG00000115364	14052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.05)	.	RM19_HUMAN	MRPL19	HGNC	S4R3W9_HUMAN,H7C2J0_HUMAN,B4DIG4_HUMAN,A8K5D5_HUMAN	.	UPI00002087A4	SNV	MRPL19,missense_variant,p.Asp10Gly,ENST00000492255,;MRPL19,missense_variant,p.Asp185Gly,ENST00000393909,;MRPL19,missense_variant,p.Asp185Gly,ENST00000409374,;MRPL19,missense_variant,p.Asp87Gly,ENST00000476622,;MRPL19,intron_variant,,ENST00000358788,;MRPL19,upstream_gene_variant,,ENST00000453233,;GCFC2,intron_variant,,ENST00000470285,;AC005034.3,upstream_gene_variant,,ENST00000423067,;	579	105	144	SUCCESS
IGKV3-20	28912	.	GRCh37	2	89442546	89442546	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	88	225	0	ENST00000492167.1:c.46C>A	p.Pro16Thr	p.P16T	ENST00000492167		16	Cca/Aca	0	.	.	.	.	.	T	P/T	IG_V_gene	YES	.	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGGAGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF118,hmmpanther:PTHR23267,Gene3D:2.60.40.10	.	.	ENSP00000418649	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000492167	Transcript	.	.	ENSG00000239951	5817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	KV313_HUMAN	IGKV3-20	HGNC	.	.	UPI0000113B59	SNV	IGKV3-20,missense_variant,p.Pro16Thr,ENST00000492167,;	98	225	276	SUCCESS
MED12L	116931	.	GRCh37	3	150903129	150903129	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376895313	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	81	0	ENST00000474524.1:c.1507G>A	p.Asp503Asn	p.D503N	ENST00000474524	NM_053002.4	503	Gat/Aat	0	A:0.0002	.	.	.	.	A	D/N	protein_coding	YES	CCDS33876.1	1507	MUTECT|MUSE|VARSCANS	.	CCAACGATGAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5,Pfam_domain:PF12145	.	A:0	ENSP00000417235	.	11/43	.	.	.	.	.	.	.	.	rs376895313,COSM3774049,COSM3774050	11/43	PASS	ENST00000474524	Transcript	.	.	ENSG00000144893	16050	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.851)	.	deleterious(0.03)	0,1,1	MD12L_HUMAN	MED12L	HGNC	.	.	UPI000020A46B	SNV	MED12L,missense_variant,p.Asp503Asn,ENST00000474524,;MED12L,missense_variant,p.Asp503Asn,ENST00000422248,;MED12L,missense_variant,p.Asp363Asn,ENST00000273432,;MED12L,missense_variant,p.Asp503Asn,ENST00000309237,;RNA5SP145,upstream_gene_variant,,ENST00000363124,;	1545	81	88	SUCCESS
IL1RAP	3556	.	GRCh37	3	190362044	190362045	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	107	30	71	0	ENST00000072516.3:c.1061dup	p.Arg355LysfsTer43	p.R355Kfs*43	ENST00000072516	NM_001167929.1	353	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS54696.1	1059-1060	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGCTCCAAG	NONE	.	.	hmmpanther:PTHR11890:SF21,hmmpanther:PTHR11890	.	.	ENSP00000314807	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000317757	Transcript	.	.	ENSG00000196083	5995	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL1AP_HUMAN	IL1RAP	HGNC	Q8N9C1_HUMAN,C9JT28_HUMAN,C9J1D9_HUMAN	.	UPI000020A9C1	insertion	IL1RAP,frameshift_variant,p.Arg355LysfsTer43,ENST00000439062,;IL1RAP,frameshift_variant,p.Arg355LysfsTer43,ENST00000412504,;IL1RAP,frameshift_variant,p.Arg355LysfsTer43,ENST00000317757,;IL1RAP,frameshift_variant,p.Arg355LysfsTer43,ENST00000072516,;IL1RAP,frameshift_variant,p.Arg355LysfsTer43,ENST00000447382,;IL1RAP,frameshift_variant,p.Arg355LysfsTer43,ENST00000443369,;RN7SKP296,downstream_gene_variant,,ENST00000411185,;IL1RAP,frameshift_variant,p.Lys305GlnfsTer17,ENST00000413869,;IL1RAP,frameshift_variant,p.Lys305GlnfsTer17,ENST00000342550,;	1265-1266	71	137	SUCCESS
CLASP2	23122	.	GRCh37	3	33725916	33725916	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	124	270	0	ENST00000468888.2:c.579G>C	p.Glu193Asp	p.E193D	ENST00000468888		193	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	.	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATCTCCAC	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567,Pfam_domain:PF12348,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000419974	.	6/39	.	.	.	.	.	.	.	.	.	6/39	PASS	ENST00000468888	Transcript	.	.	ENSG00000163539	17078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.39)	.	.	CLASP2	HGNC	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN	.	UPI0001B7944B	SNV	CLASP2,missense_variant,p.Glu193Asp,ENST00000359576,;CLASP2,missense_variant,p.Glu193Asp,ENST00000399362,;CLASP2,missense_variant,p.Glu193Asp,ENST00000468888,;CLASP2,5_prime_UTR_variant,,ENST00000307312,;CLASP2,non_coding_transcript_exon_variant,,ENST00000462878,;	626	270	304	SUCCESS
FRMD4B	23150	.	GRCh37	3	69230791	69230791	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs527581690	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	42	127	0	ENST00000398540.3:c.2110G>A	p.Glu704Lys	p.E704K	ENST00000398540	NM_015123.1	704	Gag/Aag	0	.	T:0.0015	.	T:0	.	T	E/K	protein_coding	YES	CCDS46863.1	2110	RADIA|MUTECT|MUSE	.	CATCTCGGAGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281	T:0	.	ENSP00000381549	T:0	21/23	.	.	.	.	.	.	.	.	rs527581690	21/23	PASS	ENST00000398540	Transcript	.	T:0.0004	ENSG00000114541	24886	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.616)	T:0	deleterious(0)	.	FRM4B_HUMAN	FRMD4B	HGNC	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN	.	UPI00001C1DF1	SNV	FRMD4B,missense_variant,p.Glu704Lys,ENST00000398540,;FRMD4B,missense_variant,p.Glu356Lys,ENST00000478263,;FRMD4B,missense_variant,p.Glu650Lys,ENST00000542259,;	2194	127	124	SUCCESS
GALNT7	51809	.	GRCh37	4	174213266	174213266	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	72	131	1	ENST00000265000.4:c.595T>C	p.Tyr199His	p.Y199H	ENST00000265000	NM_017423.2	199	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS3815.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGTATTGG	NONE	.	.	hmmpanther:PTHR11675:SF31,hmmpanther:PTHR11675,Superfamily_domains:SSF53448	.	.	ENSP00000265000	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000265000	Transcript	.	.	ENSG00000109586	4129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.57)	.	GALT7_HUMAN	GALNT7	HGNC	Q4W5F7_HUMAN	.	UPI000000DB3C	SNV	GALNT7,missense_variant,p.Tyr199His,ENST00000265000,;GALNT7,missense_variant,p.Tyr199His,ENST00000512285,;GALNT7,upstream_gene_variant,,ENST00000505308,;GALNT7,non_coding_transcript_exon_variant,,ENST00000502407,;	678	132	129	SUCCESS
GABRG1	2565	.	GRCh37	4	46043212	46043212	+	synonymous_variant	Silent	SNP	C	C	T	rs765340305	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	95	1	ENST00000295452.4:c.1191G>A	p.Pro397=	p.P397=	ENST00000295452	NM_173536.3	397	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3470.1	1191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGGCAC	NONE	byFrequency	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Superfamily_domains:SSF90112,Prints_domain:PR01621	.	.	ENSP00000295452	.	9/9	.	.	.	.	.	.	.	.	rs765340305,COSM244643	9/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,synonymous_variant,p.%3D,ENST00000295452,;	1359	96	82	SUCCESS
ALB	213	.	GRCh37	4	74283353	74283360	+	frameshift_variant	Frame_Shift_Del	DEL	TGAAGCAA	TGAAGCAA	-	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	TGAAGCAA	TGAAGCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	72	70	185	0	ENST00000295897.4:c.1395_1402del	p.Glu466LysfsTer21	p.E466Kfs*21	ENST00000295897	NM_000477.5	465	ccTGAAGCAAaa/ccaa	0	.	.	.	.	.	-	PEAK/PX	protein_coding	YES	CCDS3555.1	1395-1402	INDELOCATOR*|VARSCANI*|PINDEL	.	ACATCCTGAAGCAAAAAGA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Glu466LysfsTer21,ENST00000509063,;ALB,frameshift_variant,p.Glu311LysfsTer21,ENST00000511370,;ALB,frameshift_variant,p.Glu274LysfsTer21,ENST00000415165,;ALB,frameshift_variant,p.Glu466LysfsTer21,ENST00000295897,;ALB,frameshift_variant,p.Glu316LysfsTer21,ENST00000503124,;ALB,frameshift_variant,p.Glu351LysfsTer21,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1484-1491	185	142	SUCCESS
SNCAIP	9627	.	GRCh37	5	121759066	121759066	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757659236	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	23	110	0	ENST00000261368.8:c.634C>A	p.Pro212Thr	p.P212T	ENST00000261368	NM_005460.2	212	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4131.1	634	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCCCGTG	NONE	.	.	hmmpanther:PTHR22882	.	.	ENSP00000261368	.	4/11	.	.	.	.	.	.	.	.	rs757659236	4/11	PASS	ENST00000261368	Transcript	1	.	ENSG00000064692	11139	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	SNCAP_HUMAN	SNCAIP	HGNC	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN	.	UPI000006D872	SNV	SNCAIP,missense_variant,p.Pro259Thr,ENST00000503116,;SNCAIP,missense_variant,p.Pro212Thr,ENST00000379536,;SNCAIP,missense_variant,p.Pro212Thr,ENST00000509154,;SNCAIP,missense_variant,p.Pro212Thr,ENST00000261368,;SNCAIP,missense_variant,p.Pro259Thr,ENST00000379533,;SNCAIP,missense_variant,p.Pro259Thr,ENST00000261367,;SNCAIP,intron_variant,,ENST00000504884,;SNCAIP,intron_variant,,ENST00000379538,;SNCAIP,intron_variant,,ENST00000542191,;SNCAIP,intron_variant,,ENST00000414317,;SNCAIP,downstream_gene_variant,,ENST00000508681,;SNCAIP,downstream_gene_variant,,ENST00000506272,;SNCAIP,downstream_gene_variant,,ENST00000514467,;SNCAIP,missense_variant,p.Pro259Thr,ENST00000395469,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000510003,;SNCAIP,intron_variant,,ENST00000508017,;SNCAIP,intron_variant,,ENST00000395466,;SNCAIP,intron_variant,,ENST00000512146,;SNCAIP,intron_variant,,ENST00000512385,;SNCAIP,intron_variant,,ENST00000510658,;SNCAIP,intron_variant,,ENST00000509023,;SNCAIP,intron_variant,,ENST00000515215,;	896	110	163	SUCCESS
MEGF10	84466	.	GRCh37	5	126734452	126734452	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs190469012	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	36	118	0	ENST00000274473.6:c.744C>A	p.His248Gln	p.H248Q	ENST00000274473	NM_032446.2	248	caC/caA	0	.	T:0.0008	.	T:0	.	A	H/Q	protein_coding	YES	CCDS4142.1	744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACGTCAC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,Gene3D:2gy5A03,SMART_domains:SM00181	T:0	.	ENSP00000274473	T:0	8/26	.	.	.	.	.	.	.	.	rs190469012,COSM172543	8/26	PASS	ENST00000274473	Transcript	1	T:0.0002	ENSG00000145794	29634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.403)	T:0	tolerated(0.18)	0,1	MEG10_HUMAN	MEGF10	HGNC	.	.	UPI000006F868	SNV	MEGF10,missense_variant,p.His248Gln,ENST00000508365,;MEGF10,missense_variant,p.His248Gln,ENST00000274473,;MEGF10,missense_variant,p.His248Gln,ENST00000418761,;MEGF10,missense_variant,p.His248Gln,ENST00000503335,;	1011	118	129	SUCCESS
SLC25A48	153328	.	GRCh37	5	135188365	135188365	+	synonymous_variant	Silent	SNP	C	C	T	rs368023667	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	42	99	0	ENST00000412661.2:c.276C>T	p.Cys92=	p.C92=	ENST00000412661	NM_145282.4	92	tgC/tgT	0	A:0	T:0.0008	.	T:0	.	T	C	protein_coding	YES	CCDS43366.2	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCGGGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24089:SF229,hmmpanther:PTHR24089,Gene3D:1okcA00,Superfamily_domains:0048588	T:0	A:0.0002	ENSP00000413049	T:0	4/5	.	.	.	.	.	.	.	.	rs368023667,rs747950351	4/5	PASS	ENST00000412661	Transcript	.	T:0.0002	ENSG00000145832	30451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	S2548_HUMAN	SLC25A48	HGNC	.	.	UPI000006FF97	SNV	SLC25A48,synonymous_variant,p.%3D,ENST00000420621,;SLC25A48,synonymous_variant,p.%3D,ENST00000433282,;SLC25A48,synonymous_variant,p.%3D,ENST00000412661,;SLC25A48,synonymous_variant,p.%3D,ENST00000274513,;SLC25A48,intron_variant,,ENST00000425402,;SLC25A48,3_prime_UTR_variant,,ENST00000462340,;	397	99	116	SUCCESS
WNT8A	7478	.	GRCh37	5	137420203	137420203	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs528082347	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	81	0	ENST00000398754.1:c.119C>T	p.Thr40Met	p.T40M	ENST00000398754	NM_058244.2	40	aCg/aTg	0	.	T:0.0008	.	T:0	.	T	T/M	protein_coding	YES	CCDS43368.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACACGACTA	NONE	by1000G	.	hmmpanther:PTHR12027:SF92,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01892	T:0	.	ENSP00000381739	T:0	3/6	.	.	.	.	.	.	.	.	rs528082347,COSM3850358	3/6	PASS	ENST00000398754	Transcript	.	T:0.0002	ENSG00000061492	12788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.923)	T:0	tolerated(0.13)	0,1	WNT8A_HUMAN	WNT8A	HGNC	.	.	UPI00000443FE	SNV	WNT8A,missense_variant,p.Thr58Met,ENST00000504809,;WNT8A,missense_variant,p.Thr40Met,ENST00000398754,;WNT8A,missense_variant,p.Thr58Met,ENST00000506684,;WNT8A,missense_variant,p.Thr40Met,ENST00000361560,;	124	81	82	SUCCESS
PCDHGA6	56109	.	GRCh37	5	140755818	140755818	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748938190	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	56	154	0	ENST00000517434.1:c.2168G>A	p.Arg723His	p.R723H	ENST00000517434	NM_018919.2	723	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS54926.1	2168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGCCTGC	NONE	byFrequency	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107	.	.	ENSP00000429601	.	1/4	.	.	.	.	.	.	.	.	rs748938190	1/4	PASS	ENST00000517434	Transcript	.	.	ENSG00000253731	8704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.16)	.	PCDG6_HUMAN	PCDHGA6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000715C8	SNV	PCDHGA6,missense_variant,p.Arg723His,ENST00000517434,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;	2168	154	154	SUCCESS
BASP1	10409	.	GRCh37	5	17275720	17275720	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766369296	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	73	0	ENST00000322611.3:c.395G>A	p.Ser132Asn	p.S132N	ENST00000322611	NM_006317.4	132	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS3888.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAGCGCGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	rs766369296	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.23)	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,missense_variant,p.Ser132Asn,ENST00000322611,;BASP1,downstream_gene_variant,,ENST00000606445,;	655	73	96	SUCCESS
DRD1	1812	.	GRCh37	5	174869971	174869971	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	52	153	0	ENST00000393752.2:c.132C>G	p.Val44=	p.V44=	ENST00000393752	NM_000794.3	44	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS4393.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGACCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000377353	.	2/2	.	.	.	.	.	.	.	.	COSM280608,COSM1543241	2/2	PASS	ENST00000393752	Transcript	.	.	ENSG00000184845	3020	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	DRD1_HUMAN	DRD1	HGNC	.	.	UPI00000503F5	SNV	DRD1,synonymous_variant,p.%3D,ENST00000393752,;	1125	153	132	SUCCESS
PDZD2	23037	.	GRCh37	5	31983276	31983276	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	57	0	ENST00000438447.1:c.492G>A	p.Gln164=	p.Q164=	ENST00000438447		164	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS34137.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGTGCTG	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000402033	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,synonymous_variant,p.%3D,ENST00000438447,;PDZD2,synonymous_variant,p.%3D,ENST00000282493,;PDZD2,non_coding_transcript_exon_variant,,ENST00000513852,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	880	57	77	SUCCESS
CWC27	10283	.	GRCh37	5	64064973	64064973	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	34	98	0	ENST00000381070.3:c.-1G>C		p.*1*	ENST00000381070	NM_005869.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3982.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGATGAG	NONE	.	.	.	.	.	ENSP00000370460	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,5_prime_UTR_variant,,ENST00000381070,;CWC27,5_prime_UTR_variant,,ENST00000508024,;SREK1IP1,upstream_gene_variant,,ENST00000513458,;CWC27,upstream_gene_variant,,ENST00000485990,;SREK1IP1,upstream_gene_variant,,ENST00000510616,;SREK1IP1,upstream_gene_variant,,ENST00000506252,;SREK1IP1,upstream_gene_variant,,ENST00000495198,;	217	98	127	SUCCESS
EDIL3	10085	.	GRCh37	5	83433153	83433153	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	38	0	ENST00000296591.5:c.375T>G	p.Val125=	p.V125=	ENST00000296591	NM_005711.4	125	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS4062.1	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCAACTTC	BUFFER|p.E124K|c.370G>A|3	.	.	Superfamily_domains:SSF57196,Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS01187,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50026	.	.	ENSP00000296591	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,synonymous_variant,p.%3D,ENST00000296591,;EDIL3,synonymous_variant,p.%3D,ENST00000380138,;EDIL3,non_coding_transcript_exon_variant,,ENST00000507663,;	794	38	65	SUCCESS
KIAA1244	0	.	GRCh37	6	138613011	138613012	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	171	52	146	0	ENST00000251691.4:c.3190dup	p.Glu1064GlyfsTer63	p.E1064Gfs*63	ENST00000251691	NM_020340.4	1063	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS5189.2	3189-3190	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCCCGAGCA	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	insertion	KIAA1244,frameshift_variant,p.Glu1064GlyfsTer63,ENST00000251691,;	3355-3356	146	223	SUCCESS
LPA	4018	.	GRCh37	6	161085258	161085258	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	17	0	ENST00000316300.5:c.-12G>A		p.*4*	ENST00000316300				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43523.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	ACTGGCCAGCA	NONE	.	.	.	.	.	ENSP00000395608	.	2/40	.	.	.	.	.	.	.	.	.	2/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,5_prime_UTR_variant,,ENST00000316300,;LPA,5_prime_UTR_variant,,ENST00000447678,;RP1-81D8.4,downstream_gene_variant,,ENST00000452651,;	110	17	21	SUCCESS
GFRAL	389400	.	GRCh37	6	55216306	55216306	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	89	0	ENST00000340465.2:c.626C>G	p.Thr209Arg	p.T209R	ENST00000340465	NM_207410.2	209	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS4957.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGACATGTG	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,Pfam_domain:PF02351,SMART_domains:SM00907,Superfamily_domains:0042655	.	.	ENSP00000343636	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.02)	.	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,missense_variant,p.Thr209Arg,ENST00000340465,;	712	89	107	SUCCESS
PGM3	5238	.	GRCh37	6	83881733	83881733	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	72	1	ENST00000513973.1:c.1288T>A	p.Leu430Met	p.L430M	ENST00000513973	NM_001199918.1	430	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS56436.1	1372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAAGATTG	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF15,PIRSF_domain:PIRSF016408	.	.	ENSP00000425809	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,missense_variant,p.Leu61Met,ENST00000509219,;PGM3,missense_variant,p.Leu430Met,ENST00000512866,;PGM3,missense_variant,p.Leu430Met,ENST00000513973,;PGM3,missense_variant,p.Leu349Met,ENST00000283977,;PGM3,missense_variant,p.Leu458Met,ENST00000506587,;DOPEY1,downstream_gene_variant,,ENST00000237163,;DOPEY1,downstream_gene_variant,,ENST00000369739,;DOPEY1,downstream_gene_variant,,ENST00000349129,;DOPEY1,downstream_gene_variant,,ENST00000484282,;PGM3,upstream_gene_variant,,ENST00000504780,;PGM3,downstream_gene_variant,,ENST00000507404,;	1519	73	77	SUCCESS
LAMB4	22798	.	GRCh37	7	107696204	107696204	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	17	83	0	ENST00000205386.4:c.3628C>T	p.Leu1210=	p.L1210=	ENST00000205386		1210	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34732.1	3628	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGGGTCT	NONE	.	.	.	.	.	ENSP00000373433	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	SNV	LAMB4,synonymous_variant,p.%3D,ENST00000388781,;LAMB4,synonymous_variant,p.%3D,ENST00000422975,;LAMB4,synonymous_variant,p.%3D,ENST00000388780,;LAMB4,synonymous_variant,p.%3D,ENST00000205386,;	3712	83	125	SUCCESS
VWDE	221806	.	GRCh37	7	12414718	12414718	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1039932752	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	5	113	0	ENST00000275358.3:c.1160G>C	p.Gly387Ala	p.G387A	ENST00000275358	NM_001135924.1	387	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS47544.1	1160	MUTECT|MUSE	.	TATCTCCATCT	NONE	.	.	.	.	.	ENSP00000275358	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Gly387Ala,ENST00000275358,;VWDE,missense_variant,p.Gly387Ala,ENST00000452576,;VWDE,intron_variant,,ENST00000521169,;VWDE,downstream_gene_variant,,ENST00000326715,;	1349	113	149	SUCCESS
ABCA13	154664	.	GRCh37	7	48626793	48626793	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs563692415	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	52	0	ENST00000435803.1:c.14549C>T	p.Ala4850Val	p.A4850V	ENST00000435803	NM_152701.3	4850	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47584.1	14549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGCGGACA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	57/62	.	.	.	.	.	.	.	.	rs563692415,COSM371469,COSM371468	57/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.007)	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Ala4850Val,ENST00000435803,;ABCA13,missense_variant,p.Ala580Val,ENST00000544596,;ABCA13,missense_variant,p.Ala623Val,ENST00000411975,;ABCA13,missense_variant,p.Ala1116Val,ENST00000453246,;	14573	52	46	SUCCESS
CCT6A	908	.	GRCh37	7	56119505	56119505	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs761665214	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	90	0	ENST00000275603.4:c.-37A>G		p.*13*	ENST00000275603	NM_001762.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5523.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCACTCAG	NONE	byFrequency	.	.	.	.	ENSP00000275603	.	1/14	.	.	.	.	.	.	.	.	rs761665214	1/14	PASS	ENST00000275603	Transcript	.	.	ENSG00000146731	1620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPZ_HUMAN	CCT6A	HGNC	.	.	UPI0000136B11	SNV	CCT6A,5_prime_UTR_variant,,ENST00000540286,;CCT6A,5_prime_UTR_variant,,ENST00000275603,;CCT6A,5_prime_UTR_variant,,ENST00000335503,;PSPH,upstream_gene_variant,,ENST00000421312,;PSPH,upstream_gene_variant,,ENST00000275605,;PSPH,upstream_gene_variant,,ENST00000416592,;PSPH,upstream_gene_variant,,ENST00000419984,;PSPH,upstream_gene_variant,,ENST00000424596,;PSPH,upstream_gene_variant,,ENST00000413218,;PSPH,upstream_gene_variant,,ENST00000395471,;SNORA22,upstream_gene_variant,,ENST00000383876,;CCT6A,upstream_gene_variant,,ENST00000493855,;PSPH,upstream_gene_variant,,ENST00000437355,;CCT6A,upstream_gene_variant,,ENST00000482776,;	183	91	94	SUCCESS
TECPR1	25851	.	GRCh37	7	97863212	97863212	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs375012059	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	39	192	0	ENST00000447648.2:c.1193T>G	p.Phe398Cys	p.F398C	ENST00000447648	NM_015395.2	398	tTc/tGc	0	C:0.0002	.	.	.	.	C	F/C	protein_coding	YES	CCDS47648.1	1193	RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGAAGCAG	NONE	.	.	hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1	.	C:0	ENSP00000404923	.	11/26	.	.	.	.	.	.	.	.	rs375012059	11/26	PASS	ENST00000447648	Transcript	.	.	ENSG00000205356	22214	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	deleterious(0.01)	.	TCPR1_HUMAN	TECPR1	HGNC	C9JUV4_HUMAN	.	UPI0000161940	SNV	TECPR1,missense_variant,p.Phe398Cys,ENST00000447648,;TECPR1,missense_variant,p.Phe328Cys,ENST00000542604,;TECPR1,missense_variant,p.Phe398Cys,ENST00000379795,;TECPR1,non_coding_transcript_exon_variant,,ENST00000471397,;TECPR1,upstream_gene_variant,,ENST00000479911,;TECPR1,downstream_gene_variant,,ENST00000463648,;TECPR1,upstream_gene_variant,,ENST00000490842,;TECPR1,upstream_gene_variant,,ENST00000483740,;	1493	192	230	SUCCESS
ABRA	137735	.	GRCh37	8	107773510	107773510	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs182944429	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	110	0	ENST00000311955.3:c.901C>A	p.Arg301Ser	p.R301S	ENST00000311955	NM_139166.4	301	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS6305.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGCTTGG	NONE	.	.	hmmpanther:PTHR22739:SF7,hmmpanther:PTHR22739	.	.	ENSP00000311436	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311955	Transcript	.	.	ENSG00000174429	30655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	deleterious(0)	.	ABRA_HUMAN	ABRA	HGNC	.	.	UPI000006F0DE	SNV	ABRA,missense_variant,p.Arg301Ser,ENST00000311955,;	956	110	106	SUCCESS
CYC1	1537	.	GRCh37	8	145150769	145150769	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	26	0	ENST00000318911.4:c.163C>G	p.Arg55Gly	p.R55G	ENST00000318911	NM_001916.3	55	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS6415.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCGAGGC	NONE	.	.	hmmpanther:PTHR10266	.	.	ENSP00000317159	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000318911	Transcript	1	.	ENSG00000179091	2579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.26)	.	CY1_HUMAN	CYC1	HGNC	.	.	UPI000014046B	SNV	CYC1,missense_variant,p.Arg55Gly,ENST00000318911,;SHARPIN,downstream_gene_variant,,ENST00000398712,;SHARPIN,downstream_gene_variant,,ENST00000532536,;SHARPIN,downstream_gene_variant,,ENST00000533948,;SHARPIN,downstream_gene_variant,,ENST00000534242,;CYC1,non_coding_transcript_exon_variant,,ENST00000533444,;CYC1,non_coding_transcript_exon_variant,,ENST00000528618,;CYC1,upstream_gene_variant,,ENST00000525122,;SHARPIN,downstream_gene_variant,,ENST00000530216,;SHARPIN,downstream_gene_variant,,ENST00000359551,;SHARPIN,downstream_gene_variant,,ENST00000525275,;	236	26	42	SUCCESS
EYA1	2138	.	GRCh37	8	72127663	72127663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	101	243	0	ENST00000340726.3:c.1556T>A	p.Ile519Asn	p.I519N	ENST00000340726	NM_000503.4	519	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS34906.1	1556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAATTCCT	NONE	.	.	TIGRFAM_domain:TIGR01658,hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	tolerated(0.46)	.	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,missense_variant,p.Ile485Asn,ENST00000388741,;EYA1,missense_variant,p.Ile484Asn,ENST00000419131,;EYA1,missense_variant,p.Ile519Asn,ENST00000388742,;EYA1,missense_variant,p.Ile519Asn,ENST00000340726,;EYA1,missense_variant,p.Ile486Asn,ENST00000388740,;EYA1,missense_variant,p.Ile518Asn,ENST00000388743,;EYA1,missense_variant,p.Ile513Asn,ENST00000303824,;EYA1,3_prime_UTR_variant,,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,downstream_gene_variant,,ENST00000493349,;	2196	243	325	SUCCESS
GEM	2669	.	GRCh37	8	95262710	95262710	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771063860	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	38	84	0	ENST00000297596.2:c.719G>A	p.Arg240His	p.R240H	ENST00000297596	NM_005261.3	240	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS6261.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCGCACC	NONE	byFrequency	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF192,hmmpanther:PTHR24070,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,PIRSF_domain:PIRSF038017,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000297596	.	5/5	.	.	.	.	.	.	.	.	rs771063860	5/5	PASS	ENST00000297596	Transcript	.	.	ENSG00000164949	4234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GEM_HUMAN	GEM	HGNC	E5RJF9_HUMAN	.	UPI000012B3BC	SNV	GEM,missense_variant,p.Arg240His,ENST00000297596,;GEM,missense_variant,p.Arg240His,ENST00000396194,;	984	84	96	SUCCESS
TKTL1	8277	.	GRCh37	X	153556300	153556300	+	synonymous_variant	Silent	SNP	G	G	A	rs1194094334	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	102	128	1	ENST00000369915.3:c.1614G>A	p.Pro538=	p.P538=	ENST00000369915	NM_012253.3	538	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35448.1	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCGCAAGG	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF53,Pfam_domain:PF02780,Gene3D:3.40.50.920,Superfamily_domains:SSF52922	.	.	ENSP00000358931	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000369915	Transcript	.	.	ENSG00000007350	11835	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKTL1_HUMAN	TKTL1	HGNC	Q5TYJ8_HUMAN,B7Z7I0_HUMAN	.	UPI0000211D08	SNV	TKTL1,synonymous_variant,p.%3D,ENST00000217905,;TKTL1,synonymous_variant,p.%3D,ENST00000369912,;TKTL1,synonymous_variant,p.%3D,ENST00000369915,;TKTL1,non_coding_transcript_exon_variant,,ENST00000463884,;TKTL1,downstream_gene_variant,,ENST00000482044,;TKTL1,downstream_gene_variant,,ENST00000465168,;	1803	129	146	SUCCESS
NYX	60506	.	GRCh37	X	41333142	41333142	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	57	0	ENST00000342595.2:c.436C>T	p.Arg146Cys	p.R146C	ENST00000342595	NM_022567.2	146	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS14256.1	436	MUTECT|MUSE	.	CCTGCCGCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24369:SF29,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000340328	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342595	Transcript	.	.	ENSG00000188937	8082	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	NYX_HUMAN	NYX	HGNC	.	.	UPI0000130B37	SNV	NYX,missense_variant,p.Arg146Cys,ENST00000378220,;NYX,missense_variant,p.Arg146Cys,ENST00000342595,;NYX,downstream_gene_variant,,ENST00000486842,;RP1-169I5.4,upstream_gene_variant,,ENST00000451718,;	892	57	73	SUCCESS
MALRD1	340895	.	GRCh37	10	19787512	19787512	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	31	142	0	ENST00000454679.2:c.3355G>T	p.Asp1119Tyr	p.D1119Y	ENST00000454679		1119	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	3394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGACTGG	NONE	.	.	Prints_domain:PR00020,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,PROSITE_profiles:PS50060	.	.	ENSP00000366477	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000377266	Transcript	.	.	ENSG00000204740	24331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.03)	.	.	MALRD1	HGNC	U5GXS0_HUMAN	.	UPI000191551D	SNV	MALRD1,missense_variant,p.Asp104Tyr,ENST00000377265,;MALRD1,missense_variant,p.Asp1119Tyr,ENST00000454679,;MALRD1,missense_variant,p.Asp1132Tyr,ENST00000377266,;MALRD1,5_prime_UTR_variant,,ENST00000455457,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;	3394	142	132	SUCCESS
NEBL	10529	.	GRCh37	10	21178791	21178791	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369862013	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	37	191	0	ENST00000377122.4:c.241G>T	p.Gly81Cys	p.G81C	ENST00000377122	NM_006393.2	81	Ggt/Tgt	0	T:0	.	.	.	.	A	G/C	protein_coding	YES	CCDS7134.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCGATAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227	.	T:0.0001	ENSP00000366326	.	3/28	.	.	.	.	.	.	.	.	rs369862013	3/28	PASS	ENST00000377122	Transcript	.	.	ENSG00000078114	16932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.02)	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,missense_variant,p.Gly81Cys,ENST00000377122,;NEBL,missense_variant,p.Gly81Cys,ENST00000377119,;NEBL,missense_variant,p.Gly65Cys,ENST00000434381,;NEBL,intron_variant,,ENST00000377159,;NEBL,intron_variant,,ENST00000417816,;	638	191	182	SUCCESS
DIP2C	22982	.	GRCh37	10	468861	468861	+	synonymous_variant	Silent	SNP	G	G	A	rs145952021	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	92	0	ENST00000280886.6:c.507C>T	p.His169=	p.H169=	ENST00000280886	NM_014974.2	169	caC/caT	0	A:0	.	.	.	.	A	H	protein_coding	YES	CCDS7054.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGTGGAT	NONE	byCluster	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25	.	A:0.0002	ENSP00000280886	.	5/37	.	.	.	.	.	.	.	.	rs145952021	5/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,synonymous_variant,p.%3D,ENST00000381496,;DIP2C,synonymous_variant,p.%3D,ENST00000280886,;	595	92	59	SUCCESS
DDX21	9188	.	GRCh37	10	70715894	70715894	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	8	236	0	ENST00000354185.4:c.-88G>T		p.*30*	ENST00000354185	NM_001256910.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31211.1	.	MUTECT|MUSE	.	GTGACGAGAGC	NONE	.	.	.	.	.	ENSP00000346120	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000354185	Transcript	.	.	ENSG00000165732	2744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX21_HUMAN	DDX21	HGNC	Q8NI92_HUMAN	.	UPI00001A92E8	SNV	DDX21,5_prime_UTR_variant,,ENST00000354185,;	11	236	142	SUCCESS
RP11-196E1.3	0	.	GRCh37	11	119508882	119508883	+	intron_variant,non_coding_transcript_variant	Intron	INS	-	-	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	98	0	ENST00000532153.1:n.514+801dup		p.*172*	ENST00000532153				0	.	.	.	.	.	G	.	antisense	YES	.	.	VARSCANI*|PINDEL	.	ATAGTAGGGGG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000532153	Transcript	.	.	ENSG00000254561	.	6	.	MODIFIER	4/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-196E1.3	Clone_based_vega_gene	.	.	.	insertion	PVRL1,frameshift_variant,p.Tyr435LeufsTer3,ENST00000341398,;RP11-196E1.3,intron_variant,,ENST00000532153,;RP11-196E1.3,intron_variant,,ENST00000601999,;PVRL1,non_coding_transcript_exon_variant,,ENST00000531468,;	.	98	66	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128868356	128868356	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	75	0	ENST00000310343.9:c.1011A>G	p.Lys337=	p.K337=	ENST00000310343	NM_001142685.1	337	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS44769.1	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTTTTAGA	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9	.	.	ENSP00000310561	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,synonymous_variant,p.%3D,ENST00000524655,;ARHGAP32,synonymous_variant,p.%3D,ENST00000310343,;ARHGAP32,5_prime_UTR_variant,,ENST00000392657,;ARHGAP32,upstream_gene_variant,,ENST00000527272,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;ARHGAP32,upstream_gene_variant,,ENST00000526162,;	1011	75	56	SUCCESS
OR4A15	81328	.	GRCh37	11	55135909	55135909	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781613440	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	61	0	ENST00000314706.3:c.550T>C	p.Ser184Pro	p.S184P	ENST00000314706	NM_001005275.1	184	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31500.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTCATTG	BUFFER|p.L182R|c.545T>G|3	byFrequency	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,PROSITE_profiles:PS50262	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	rs781613440	1/1	PASS	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0)	.	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,missense_variant,p.Ser184Pro,ENST00000314706,;	550	61	68	SUCCESS
OR5B17	219965	.	GRCh37	11	58126247	58126247	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	164	0	ENST00000357377.3:c.296T>C	p.Met99Thr	p.M99T	ENST00000357377	NM_001005489.1	99	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS31548.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACATCTGA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,PROSITE_profiles:PS50262	.	.	ENSP00000349945	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357377	Transcript	.	.	ENSG00000197786	15267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.38)	.	deleterious_low_confidence(0)	.	OR5BH_HUMAN	OR5B17	HGNC	.	.	UPI0000041DFA	SNV	OR5B17,missense_variant,p.Met99Thr,ENST00000357377,;AP000435.3,upstream_gene_variant,,ENST00000528539,;	296	164	130	SUCCESS
DCHS1	8642	.	GRCh37	11	6662511	6662511	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367639691	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	106	0	ENST00000299441.3:c.334C>T	p.Arg112Trp	p.R112W	ENST00000299441	NM_003737.2	112	Cgg/Tgg	0	A:0.0002	.	.	.	.	A	R/W	protein_coding	YES	CCDS7771.1	334	MUTECT|MUSE	.	GTCCCGCTGCT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	A:0	ENSP00000299441	.	2/21	.	.	.	.	.	.	.	.	rs367639691	2/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Arg112Trp,ENST00000299441,;	746	106	77	SUCCESS
GPR152	390212	.	GRCh37	11	67220097	67220097	+	synonymous_variant	Silent	SNP	C	C	A	rs754953167	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	50	296	0	ENST00000312457.2:c.99G>T	p.Thr33=	p.T33=	ENST00000312457	NM_206997.1	33	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8165.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCGTGTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11334:SF1,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000310255	.	1/1	.	.	.	.	.	.	.	.	rs754953167	1/1	PASS	ENST00000312457	Transcript	.	.	ENSG00000175514	23622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP152_HUMAN	GPR152	HGNC	.	.	UPI000003B364	SNV	GPR152,synonymous_variant,p.%3D,ENST00000312457,;CABP4,5_prime_UTR_variant,,ENST00000438189,;CABP4,upstream_gene_variant,,ENST00000325656,;CABP4,non_coding_transcript_exon_variant,,ENST00000542025,;CABP4,non_coding_transcript_exon_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,non_coding_transcript_exon_variant,,ENST00000545040,;CABP4,upstream_gene_variant,,ENST00000545777,;	104	296	180	SUCCESS
WNT11	7481	.	GRCh37	11	75907729	75907729	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	24	139	0	ENST00000322563.3:c.117G>A	p.Leu39=	p.L39=	ENST00000322563	NM_004626.2	39	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8242.1	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCAGTGC	NONE	.	.	hmmpanther:PTHR12027:SF7,hmmpanther:PTHR12027	.	.	ENSP00000325526	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000322563	Transcript	.	.	ENSG00000085741	12776	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT11_HUMAN	WNT11	HGNC	.	.	UPI000003148D	SNV	WNT11,synonymous_variant,p.%3D,ENST00000322563,;RP11-619A14.2,downstream_gene_variant,,ENST00000527314,;	242	139	101	SUCCESS
TSPAN4	7106	.	GRCh37	11	850322	850322	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	59	0	ENST00000397397.2:c.18C>T	p.Leu6=	p.L6=	ENST00000397397	NM_003271.4	6	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7721.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCCAGGC	NONE	.	.	PROSITE_profiles:PS51257,hmmpanther:PTHR19282:SF40,hmmpanther:PTHR19282,PIRSF_domain:PIRSF002419	.	.	ENSP00000380553	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000397404	Transcript	.	.	ENSG00000214063	11859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN4_HUMAN	TSPAN4	HGNC	E9PSH3_HUMAN,E9PPX8_HUMAN,E9PMX4_HUMAN,A8MVV6_HUMAN	.	UPI000013683F	SNV	TSPAN4,synonymous_variant,p.%3D,ENST00000409543,;TSPAN4,synonymous_variant,p.%3D,ENST00000397411,;TSPAN4,synonymous_variant,p.%3D,ENST00000346501,;TSPAN4,synonymous_variant,p.%3D,ENST00000397397,;TSPAN4,synonymous_variant,p.%3D,ENST00000397404,;TSPAN4,synonymous_variant,p.%3D,ENST00000397406,;TSPAN4,synonymous_variant,p.%3D,ENST00000397408,;TSPAN4,synonymous_variant,p.%3D,ENST00000527644,;TSPAN4,synonymous_variant,p.%3D,ENST00000409531,;TSPAN4,synonymous_variant,p.%3D,ENST00000530404,;TSPAN4,synonymous_variant,p.%3D,ENST00000532375,;TSPAN4,intron_variant,,ENST00000397396,;TSPAN4,intron_variant,,ENST00000525334,;TSPAN4,intron_variant,,ENST00000525201,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000526055,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000524895,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000464987,;	277	59	43	SUCCESS
KLRC3	3823	.	GRCh37	12	10573090	10573090	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	43	0	ENST00000396439.2:c.60G>C	p.Gln20His	p.Q20H	ENST00000396439	NM_002261.2	20	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS31744.1	60	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTGCTGCCA	NONE	.	.	hmmpanther:PTHR22800:SF162,hmmpanther:PTHR22800	.	.	ENSP00000371328	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000381903	Transcript	.	.	ENSG00000205810	6376	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.367)	.	deleterious(0.03)	.	NKG2E_HUMAN	KLRC3	HGNC	.	.	UPI00001AF2AC	SNV	KLRC3,missense_variant,p.Gln20His,ENST00000381904,;KLRC3,missense_variant,p.Gln20His,ENST00000396439,;KLRC3,missense_variant,p.Gln20His,ENST00000381903,;NKG2-E,intron_variant,,ENST00000539033,;	60	43	52	SUCCESS
KLRC2	3822	.	GRCh37	12	10588526	10588526	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	110	0	ENST00000381902.2:c.60G>C	p.Gln20His	p.Q20H	ENST00000381902	NM_002260.3	20	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS31745.1	60	RADIA|MUTECT|MUSE	.	CTTTGCTGCCG	BUFFER|p.R19P|c.56G>C|3	.	.	hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF162	.	.	ENSP00000371327	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000381902	Transcript	.	.	ENSG00000205809	6375	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.303)	.	deleterious(0.04)	.	NKG2C_HUMAN	KLRC2	HGNC	.	.	UPI0000140823	SNV	KLRC2,missense_variant,p.Gln20His,ENST00000381902,;NKG2-E,missense_variant,p.Gln20His,ENST00000539033,;KLRC2,missense_variant,p.Gln20His,ENST00000381901,;KLRC2,intron_variant,,ENST00000536833,;KLRC2,upstream_gene_variant,,ENST00000537017,;KLRC2,upstream_gene_variant,,ENST00000535069,;	67	111	108	SUCCESS
CIT	11113	.	GRCh37	12	120213641	120213641	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs1414046793	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	88	0	ENST00000261833.7:c.1890C>G	p.Ile630Met	p.I630M	ENST00000261833	NM_007174.2	630	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS55891.1	1890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTGATCTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26	.	.	ENSP00000376306	.	16/48	.	.	.	.	.	.	.	.	.	16/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.32)	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Ile258Met,ENST00000392520,;CIT,missense_variant,p.Ile630Met,ENST00000261833,;CIT,missense_variant,p.Ile630Met,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;CIT,splice_region_variant,,ENST00000537607,;CIT,splice_region_variant,,ENST00000545913,;	1946	88	79	SUCCESS
RIMBP2	23504	.	GRCh37	12	130926753	130926753	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	116	0	ENST00000261655.4:c.1093C>A	p.Arg365Ser	p.R365S	ENST00000261655	NM_015347.4	365	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31925.1	1093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGGTAGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000261655	.	8/19	.	.	.	.	.	.	.	.	COSM547001	8/19	PASS	ENST00000261655	Transcript	.	.	ENSG00000060709	30339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	RIMB2_HUMAN	RIMBP2	HGNC	F5H3X3_HUMAN	.	UPI00001C1F42	SNV	RIMBP2,missense_variant,p.Arg273Ser,ENST00000536002,;RIMBP2,missense_variant,p.Arg365Ser,ENST00000261655,;RIMBP2,missense_variant,p.Arg273Ser,ENST00000535703,;	1257	116	94	SUCCESS
ALG10B	144245	.	GRCh37	12	38710750	38710750	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	116	0	ENST00000308742.4:c.55G>C	p.Val19Leu	p.V19L	ENST00000308742	NM_001013620.3	19	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS31772.1	55	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGTGTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12989:SF12,hmmpanther:PTHR12989,PIRSF_domain:PIRSF028810	.	.	ENSP00000310120	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308742	Transcript	.	.	ENSG00000175548	31088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.36)	.	AG10B_HUMAN	ALG10B	HGNC	.	.	UPI000013EDA4	SNV	ALG10B,missense_variant,p.Val19Leu,ENST00000308742,;ALG10B,missense_variant,p.Val19Leu,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,missense_variant,p.Val19Leu,ENST00000548240,;ALG10B,non_coding_transcript_exon_variant,,ENST00000553138,;	371	116	87	SUCCESS
CPNE8	144402	.	GRCh37	12	39087558	39087558	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	35	94	0	ENST00000331366.5:c.1044A>G	p.Gly348=	p.G348=	ENST00000331366	NM_153634.2	348	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8733.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTCCCAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10857:SF9,hmmpanther:PTHR10857,Pfam_domain:PF07002,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000329748	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000331366	Transcript	.	.	ENSG00000139117	23498	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPNE8_HUMAN	CPNE8	HGNC	Q86VY2_HUMAN	.	UPI000015FF59	SNV	CPNE8,synonymous_variant,p.%3D,ENST00000538596,;CPNE8,synonymous_variant,p.%3D,ENST00000360449,;CPNE8,synonymous_variant,p.%3D,ENST00000331366,;	1141	94	110	SUCCESS
KCNA5	3741	.	GRCh37	12	5153915	5153915	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765380398	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	90	0	ENST00000252321.3:c.602G>C	p.Arg201Pro	p.R201P	ENST00000252321	NM_002234.3	201	cGc/cCc	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS8536.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACGCTTCT	NONE	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	rs765380398,COSM940450	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.964)	.	deleterious(0.01)	0,1	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Arg201Pro,ENST00000252321,;	831	90	48	SUCCESS
GLIPR1L2	144321	.	GRCh37	12	75807475	75807475	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs550463995	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	43	114	0	ENST00000550916.1:c.578C>T	p.Ala193Val	p.A193V	ENST00000550916	NM_001270396.1	193	gCg/gTg	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS58258.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGCGCCAG	SITE|p.A193V|c.578C>T|3,SITE|p.A193V|c.578C>T|3	by1000G	.	hmmpanther:PTHR10334:SF191,hmmpanther:PTHR10334,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797,Prints_domain:PR00837	T:0.001	.	ENSP00000448248	T:0	3/6	.	.	.	.	.	.	.	.	rs550463995,COSM3710828,COSM1364215,COSM3710829,COSM1364216	3/6	PASS	ENST00000550916	Transcript	.	T:0.0002	ENSG00000180481	28592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	possibly_damaging(0.813)	T:0	tolerated(0.05)	0,1,1,1,1	GRPL2_HUMAN	GLIPR1L2	HGNC	.	.	UPI00001408B2	SNV	GLIPR1L2,missense_variant,p.Ala128Val,ENST00000441218,;GLIPR1L2,missense_variant,p.Ala193Val,ENST00000320460,;GLIPR1L2,missense_variant,p.Ala86Val,ENST00000378692,;GLIPR1L2,missense_variant,p.Ala193Val,ENST00000550916,;GLIPR1L2,intron_variant,,ENST00000435775,;GLIPR1L2,intron_variant,,ENST00000547164,;	625	114	142	SUCCESS
PTPRQ	374462	.	GRCh37	12	81007565	81007565	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs566874843	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	42	88	0	ENST00000266688.5:c.5101G>A	p.Val1701Ile	p.V1701I	ENST00000266688		1701	Gtc/Atc	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	.	5101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCGTCATT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	A:0	.	ENSP00000266688	A:0	34/50	.	.	.	.	.	.	.	.	rs566874843	34/50	PASS	ENST00000266688	Transcript	.	A:0.0006	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	A:0.0031	tolerated(0.33)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Val1701Ile,ENST00000266688,;	5101	88	131	SUCCESS
AKAP11	11215	.	GRCh37	13	42873655	42873655	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763351585	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	44	137	0	ENST00000025301.2:c.773A>G	p.His258Arg	p.H258R	ENST00000025301	NM_016248.3	258	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9383.1	773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACATAAAG	NONE	byFrequency	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	8/13	.	.	.	.	.	.	.	.	rs763351585	8/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.36)	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,missense_variant,p.His258Arg,ENST00000025301,;	948	137	157	SUCCESS
NPAS3	64067	.	GRCh37	14	34145492	34145492	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs905978928	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	64	0	ENST00000356141.4:c.634A>C	p.Met212Leu	p.M212L	ENST00000356141		212	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS53891.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCATGAAG	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043,Pfam_domain:PF00989,Gene3D:3.30.450.20,SMART_domains:SM00091	.	.	ENSP00000348460	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.64)	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,missense_variant,p.Met108Leu,ENST00000547068,;NPAS3,missense_variant,p.Met182Leu,ENST00000548645,;NPAS3,missense_variant,p.Met217Leu,ENST00000551492,;NPAS3,missense_variant,p.Met189Leu,ENST00000551634,;NPAS3,missense_variant,p.Met180Leu,ENST00000346562,;NPAS3,missense_variant,p.Met199Leu,ENST00000357798,;NPAS3,missense_variant,p.Met212Leu,ENST00000356141,;NPAS3,missense_variant,p.Met212Leu,ENST00000341321,;NPAS3,missense_variant,p.Met110Leu,ENST00000551008,;	634	64	54	SUCCESS
NKX2-8	26257	.	GRCh37	14	37050361	37050361	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	44	0	ENST00000258829.5:c.466T>G	p.Ser156Ala	p.S156A	ENST00000258829	NM_014360.2	156	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS9660.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGATGCTG	NONE	.	.	hmmpanther:PTHR24340:SF27,hmmpanther:PTHR24340	.	.	ENSP00000258829	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000258829	Transcript	.	.	ENSG00000136327	16364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.83)	.	NKX28_HUMAN	NKX2-8	HGNC	.	.	UPI0000074709	SNV	NKX2-8,missense_variant,p.Ser156Ala,ENST00000258829,;RPL29P3,upstream_gene_variant,,ENST00000486611,;	684	44	23	SUCCESS
DNAAF2	55172	.	GRCh37	14	50092384	50092384	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	20	141	0	ENST00000298292.8:c.2390A>G	p.Asn797Ser	p.N797S	ENST00000298292	NM_018139.2	797	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9691.2	2390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATATTGTGA	NONE	.	.	hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF3	.	.	ENSP00000298292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000298292	Transcript	.	.	ENSG00000165506	20188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.25)	.	KTU_HUMAN	DNAAF2	HGNC	.	.	UPI00014F7B85	SNV	DNAAF2,missense_variant,p.Asn797Ser,ENST00000298292,;DNAAF2,missense_variant,p.Asn749Ser,ENST00000406043,;MGAT2,downstream_gene_variant,,ENST00000305386,;RPL36AL,upstream_gene_variant,,ENST00000298289,;RP11-649E7.5,upstream_gene_variant,,ENST00000555043,;RP11-649E7.7,downstream_gene_variant,,ENST00000556657,;	2471	141	102	SUCCESS
PLCB2	5330	.	GRCh37	15	40588548	40588548	+	synonymous_variant	Silent	SNP	G	G	A	rs766373645	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	120	0	ENST00000260402.3:c.1645C>T	p.Leu549=	p.L549=	ENST00000260402	NM_004573.2	549	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42020.1	1645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAGGCTGG	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695	.	.	ENSP00000260402	.	16/32	.	.	.	.	.	.	.	.	rs766373645	16/32	PASS	ENST00000260402	Transcript	.	.	ENSG00000137841	9055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB2_HUMAN	PLCB2	HGNC	H0YNI4_HUMAN	.	UPI0000D79B75	SNV	PLCB2,synonymous_variant,p.%3D,ENST00000260402,;PLCB2,synonymous_variant,p.%3D,ENST00000557821,;PLCB2,synonymous_variant,p.%3D,ENST00000456256,;PLCB2,downstream_gene_variant,,ENST00000543785,;PLCB2-AS1,upstream_gene_variant,,ENST00000559520,;PLCB2,synonymous_variant,p.%3D,ENST00000558588,;PLCB2,downstream_gene_variant,,ENST00000560093,;PLCB2,downstream_gene_variant,,ENST00000558409,;PLCB2,upstream_gene_variant,,ENST00000560701,;PLCB2,upstream_gene_variant,,ENST00000561378,;	1895	120	66	SUCCESS
INO80	54617	.	GRCh37	15	41280125	41280125	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	34	170	0	ENST00000361937.3:c.3618del	p.Met1207TrpfsTer7	p.M1207Wfs*7	ENST00000361937		1206	gcC/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS10071.1	3618	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCCATGGCCTG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF213,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000355205	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000361937	Transcript	.	.	ENSG00000128908	26956	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INO80_HUMAN	INO80	HGNC	Q9NUK2_HUMAN	.	UPI00001B6AFC	deletion	INO80,frameshift_variant,p.Met1207TrpfsTer7,ENST00000361937,;INO80,frameshift_variant,p.Met1207TrpfsTer7,ENST00000401393,;INO80,non_coding_transcript_exon_variant,,ENST00000561244,;INO80,3_prime_UTR_variant,,ENST00000558357,;INO80,non_coding_transcript_exon_variant,,ENST00000560799,;INO80,upstream_gene_variant,,ENST00000558270,;INO80,upstream_gene_variant,,ENST00000560689,;	4043	170	178	SUCCESS
TP53BP1	7158	.	GRCh37	15	43749411	43749411	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	48	1	ENST00000382044.4:c.1395T>A	p.Ile465=	p.I465=	ENST00000382044	NM_001141980.1	465	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS45250.1	1395	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATAAAAATGTC	NONE	.	.	hmmpanther:PTHR15321	.	.	ENSP00000371475	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000382044	Transcript	.	.	ENSG00000067369	11999	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TP53B_HUMAN	TP53BP1	HGNC	B3KVT9_HUMAN	.	UPI0000D720ED	SNV	TP53BP1,synonymous_variant,p.%3D,ENST00000263801,;TP53BP1,synonymous_variant,p.%3D,ENST00000413546,;TP53BP1,synonymous_variant,p.%3D,ENST00000382039,;TP53BP1,synonymous_variant,p.%3D,ENST00000450115,;TP53BP1,synonymous_variant,p.%3D,ENST00000382044,;TP53BP1,upstream_gene_variant,,ENST00000605155,;TP53BP1,upstream_gene_variant,,ENST00000414758,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000480860,;TP53BP1,upstream_gene_variant,,ENST00000411772,;	1523	49	34	SUCCESS
HMG20A	10363	.	GRCh37	15	77750751	77750751	+	start_lost	Translation_Start_Site	SNP	T	T	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	42	0	ENST00000336216.4:c.2T>G	p.Met1?	p.M1?	ENST00000336216		1	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS10295.1	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATGGAAA	NONE	.	.	.	.	.	ENSP00000371133	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000381714	Transcript	.	.	ENSG00000140382	5001	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	deleterious_low_confidence(0)	.	HM20A_HUMAN	HMG20A	HGNC	H0YNS8_HUMAN,H0YMS9_HUMAN,H0YM80_HUMAN,H0YKM5_HUMAN,H0YK55_HUMAN,B4DMG1_HUMAN	.	UPI00000737EF	SNV	HMG20A,start_lost,p.Met1?,ENST00000560498,;HMG20A,start_lost,p.Met1?,ENST00000560867,;HMG20A,start_lost,p.Met1?,ENST00000381714,;HMG20A,start_lost,p.Met1?,ENST00000559099,;HMG20A,start_lost,p.Met1?,ENST00000336216,;HMG20A,5_prime_UTR_variant,,ENST00000558176,;HMG20A,intron_variant,,ENST00000558651,;HMG20A,start_lost,p.Met1?,ENST00000559035,;HMG20A,non_coding_transcript_exon_variant,,ENST00000560986,;	430	42	28	SUCCESS
TM6SF1	53346	.	GRCh37	15	83781634	83781634	+	synonymous_variant	Silent	SNP	C	C	A	rs371581703	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	176	0	ENST00000322019.9:c.178C>A	p.Arg60=	p.R60=	ENST00000322019		60	Cgg/Agg	0	T:0	.	.	.	.	A	R	protein_coding	YES	CCDS10323.1	178	RADIA|MUTECT|MUSE	.	CACCCCGGGAC	NONE	byCluster	.	hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF10	.	T:0.0001	ENSP00000317000	.	2/10	.	.	.	.	.	.	.	.	rs371581703	2/10	PASS	ENST00000322019	Transcript	.	.	ENSG00000136404	11860	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM6S1_HUMAN	TM6SF1	HGNC	H3BM84_HUMAN,E9PD04_HUMAN	.	UPI0000039EA7	SNV	TM6SF1,synonymous_variant,p.%3D,ENST00000379386,;TM6SF1,synonymous_variant,p.%3D,ENST00000322019,;TM6SF1,synonymous_variant,p.%3D,ENST00000379390,;TM6SF1,synonymous_variant,p.%3D,ENST00000565774,;TM6SF1,5_prime_UTR_variant,,ENST00000565982,;HDGFRP3,downstream_gene_variant,,ENST00000568294,;RP11-382A20.2,downstream_gene_variant,,ENST00000565513,;TM6SF1,non_coding_transcript_exon_variant,,ENST00000564988,;TM6SF1,synonymous_variant,p.%3D,ENST00000258909,;TM6SF1,synonymous_variant,p.%3D,ENST00000379384,;	452	176	104	SUCCESS
AGBL1	123624	.	GRCh37	15	86800184	86800184	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	72	0	ENST00000441037.2:c.698G>T	p.Ser233Ile	p.S233I	ENST00000441037	NM_152336.2	233	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS58398.1	698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGCAGTG	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756	.	.	ENSP00000413001	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.298)	.	tolerated(0.13)	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,missense_variant,p.Ser233Ile,ENST00000441037,;AGBL1,missense_variant,p.Ser233Ile,ENST00000421325,;	793	72	76	SUCCESS
SYNGR3	9143	.	GRCh37	16	2042999	2042999	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	23	183	0	ENST00000248121.2:c.616G>C	p.Glu206Gln	p.E206Q	ENST00000248121	NM_004209.5	206	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS10456.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCGAGACC	NONE	.	.	hmmpanther:PTHR10838:SF8,hmmpanther:PTHR10838,PIRSF_domain:PIRSF011282	.	.	ENSP00000248121	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000248121	Transcript	.	.	ENSG00000127561	11501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	deleterious(0.01)	.	SNG3_HUMAN	SYNGR3	HGNC	.	.	UPI0000135B32	SNV	SYNGR3,missense_variant,p.Glu206Gln,ENST00000248121,;SYNGR3,missense_variant,p.Arg183Pro,ENST00000563869,;SYNGR3,3_prime_UTR_variant,,ENST00000562045,;SYNGR3,downstream_gene_variant,,ENST00000568896,;ZNF598,downstream_gene_variant,,ENST00000431526,;ZNF598,downstream_gene_variant,,ENST00000563630,;AC005606.15,upstream_gene_variant,,ENST00000567515,;AC005606.14,upstream_gene_variant,,ENST00000565041,;SYNGR3,non_coding_transcript_exon_variant,,ENST00000564642,;ZNF598,downstream_gene_variant,,ENST00000565396,;ZNF598,downstream_gene_variant,,ENST00000562988,;	774	183	98	SUCCESS
KREMEN2	79412	.	GRCh37	16	3017364	3017364	+	synonymous_variant	Silent	SNP	G	G	T	rs570092580	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	9	0	ENST00000303746.5:c.1017G>T	p.Ser339=	p.S339=	ENST00000303746		339	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10483.1	1017	RADIA|MUTECT|MUSE	.	GGCTCGGCCCA	NONE	.	.	hmmpanther:PTHR24269,hmmpanther:PTHR24269:SF15,PIRSF_domain:PIRSF036961	.	.	ENSP00000304422	.	7/9	.	.	.	.	.	.	.	.	rs570092580	7/9	PASS	ENST00000303746	Transcript	.	.	ENSG00000131650	18797	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KREM2_HUMAN	KREMEN2	HGNC	.	.	UPI000006F428	SNV	KREMEN2,synonymous_variant,p.%3D,ENST00000303746,;KREMEN2,synonymous_variant,p.%3D,ENST00000319500,;KREMEN2,synonymous_variant,p.%3D,ENST00000571007,;KREMEN2,synonymous_variant,p.%3D,ENST00000572045,;KREMEN2,synonymous_variant,p.%3D,ENST00000575885,;KREMEN2,synonymous_variant,p.%3D,ENST00000575769,;PAQR4,upstream_gene_variant,,ENST00000572687,;PAQR4,upstream_gene_variant,,ENST00000576565,;PAQR4,upstream_gene_variant,,ENST00000293978,;PAQR4,upstream_gene_variant,,ENST00000318782,;PAQR4,upstream_gene_variant,,ENST00000574988,;PKMYT1,downstream_gene_variant,,ENST00000431515,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,downstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000572832,;	1594	9	12	SUCCESS
EDC4	23644	.	GRCh37	16	67916488	67916488	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	161	0	ENST00000358933.5:c.3433A>G	p.Thr1145Ala	p.T1145A	ENST00000358933	NM_014329.4	1145	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10849.1	3433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGACACAG	NONE	.	.	hmmpanther:PTHR15598	.	.	ENSP00000351811	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000358933	Transcript	.	.	ENSG00000038358	17157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0.01)	.	EDC4_HUMAN	EDC4	HGNC	.	.	UPI0000141377	SNV	EDC4,missense_variant,p.Thr47Ala,ENST00000577105,;EDC4,missense_variant,p.Thr1145Ala,ENST00000358933,;EDC4,synonymous_variant,p.%3D,ENST00000573985,;NRN1L,upstream_gene_variant,,ENST00000576147,;NRN1L,upstream_gene_variant,,ENST00000339176,;NRN1L,upstream_gene_variant,,ENST00000576758,;EDC4,upstream_gene_variant,,ENST00000575033,;CTC-479C5.10,non_coding_transcript_exon_variant,,ENST00000572067,;AC040162.1,downstream_gene_variant,,ENST00000408599,;EDC4,downstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000575507,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,downstream_gene_variant,,ENST00000572724,;EDC4,downstream_gene_variant,,ENST00000575514,;	3672	161	97	SUCCESS
PKD1L3	342372	.	GRCh37	16	71963537	71963537	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	127	0	ENST00000534738.1:n.5099T>C		p.*1700*	ENST00000534738				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59271.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAATTTGA	NONE	.	1661	.	.	.	ENSP00000438399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535424	Transcript	.	.	ENSG00000182149	28977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IST1_HUMAN	IST1	HGNC	J3QLU7_HUMAN,H3BUI0_HUMAN,H3BRE2_HUMAN,H3BQF7_HUMAN,H3BQ38_HUMAN,H3BPP6_HUMAN,H3BMU1_HUMAN,B4DXC9_HUMAN,B4DLP1_HUMAN	.	UPI00001FF5EB	SNV	IST1,downstream_gene_variant,,ENST00000538850,;IST1,downstream_gene_variant,,ENST00000378799,;IST1,downstream_gene_variant,,ENST00000541571,;IST1,downstream_gene_variant,,ENST00000544564,;IST1,downstream_gene_variant,,ENST00000456820,;IST1,downstream_gene_variant,,ENST00000606369,;IST1,downstream_gene_variant,,ENST00000535424,;IST1,downstream_gene_variant,,ENST00000378798,;IST1,downstream_gene_variant,,ENST00000329908,;RP11-498D10.5,upstream_gene_variant,,ENST00000567146,;RP11-498D10.6,upstream_gene_variant,,ENST00000573861,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000534738,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000335106,;IST1,downstream_gene_variant,,ENST00000538565,;IST1,downstream_gene_variant,,ENST00000536027,;IST1,downstream_gene_variant,,ENST00000541180,;IST1,downstream_gene_variant,,ENST00000439924,;	.	127	112	SUCCESS
G6PC	0	.	GRCh37	17	41056030	41056030	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	103	0	ENST00000253801.2:c.313T>C	p.Phe105Leu	p.F105L	ENST00000253801	NM_000151.3	105	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11446.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTTCCCT	NONE	.	.	Superfamily_domains:SSF48317,SMART_domains:SM00014,PIRSF_domain:PIRSF000905,Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR12591:SF3,hmmpanther:PTHR12591	.	.	ENSP00000253801	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000253801	Transcript	.	.	ENSG00000131482	4056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	G6PC_HUMAN	G6PC	HGNC	.	.	UPI000013CDF5	SNV	G6PC,missense_variant,p.Phe105Leu,ENST00000585489,;G6PC,missense_variant,p.Phe105Leu,ENST00000253801,;G6PC,missense_variant,p.Phe105Leu,ENST00000592383,;G6PC,non_coding_transcript_exon_variant,,ENST00000588481,;	392	103	74	SUCCESS
CDR2L	30850	.	GRCh37	17	72999276	72999276	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	34	203	0	ENST00000337231.5:c.507-2A>T		p.X169_splice	ENST00000337231	NM_014603.2	169		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11710.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCAGGTGC	NONE	.	.	.	.	.	ENSP00000336587	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337231	Transcript	.	.	ENSG00000109089	29999	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDR2L_HUMAN	CDR2L	HGNC	.	.	UPI00005AE46D	SNV	CDR2L,splice_acceptor_variant,,ENST00000337231,;	.	203	120	SUCCESS
APCDD1	147495	.	GRCh37	18	10454941	10454941	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs373981457	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	121	0	ENST00000355285.5:c.-38G>C		p.*13*	ENST00000355285	NM_153000.4			0	A:0.0007	.	.	.	.	C	.	protein_coding	YES	CCDS11849.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCGGAGCGC	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000347433	.	1/5	.	.	.	.	.	.	.	.	rs373981457	1/5	PASS	ENST00000355285	Transcript	.	.	ENSG00000154856	15718	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,5_prime_UTR_variant,,ENST00000355285,;APCDD1,upstream_gene_variant,,ENST00000578882,;APCDD1,5_prime_UTR_variant,,ENST00000582723,;APCDD1,5_prime_UTR_variant,,ENST00000423585,;	317	121	73	SUCCESS
ZNF556	80032	.	GRCh37	19	2877815	2877815	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	39	158	0	ENST00000307635.2:c.859T>A	p.Tyr287Asn	p.Y287N	ENST00000307635	NM_024967.1	287	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS12097.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCGTATGAG	CODON|p.P286P|c.858G>A|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF142,hmmpanther:PTHR24381,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000302603	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000307635	Transcript	.	.	ENSG00000172000	25669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN556_HUMAN	ZNF556	HGNC	.	.	UPI000006DA0F	SNV	ZNF556,missense_variant,p.Tyr286Asn,ENST00000586426,;ZNF556,missense_variant,p.Tyr287Asn,ENST00000307635,;ZNF556,downstream_gene_variant,,ENST00000586470,;AC006130.4,upstream_gene_variant,,ENST00000586202,;	946	158	121	SUCCESS
TLE6	79816	.	GRCh37	19	2986843	2986843	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	140	0	ENST00000246112.4:c.239A>G	p.Gln80Arg	p.Q80R	ENST00000246112	NM_001143986.1	80	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS45910.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACAGATTG	NONE	.	.	.	.	.	ENSP00000246112	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000246112	Transcript	.	.	ENSG00000104953	30788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.33)	.	TLE6_HUMAN	TLE6	HGNC	K7ENW8_HUMAN,C9J532_HUMAN	.	UPI000059D62B	SNV	TLE6,missense_variant,p.Gln80Arg,ENST00000453329,;TLE6,missense_variant,p.Gln80Arg,ENST00000246112,;TLE6,5_prime_UTR_variant,,ENST00000452088,;TLE6,non_coding_transcript_exon_variant,,ENST00000591953,;TLE6,non_coding_transcript_exon_variant,,ENST00000468176,;TLE6,non_coding_transcript_exon_variant,,ENST00000478073,;TLE6,non_coding_transcript_exon_variant,,ENST00000474207,;TLE6,upstream_gene_variant,,ENST00000469572,;TLE6,upstream_gene_variant,,ENST00000497878,;	440	140	94	SUCCESS
SLC7A9	11136	.	GRCh37	19	33355006	33355008	+	inframe_deletion	In_Frame_Del	DEL	GGC	GGC	-	rs1348754540	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	GGC	GGC	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	131	0	ENST00000023064.4:c.472_474del	p.Ala158del	p.A158del	ENST00000023064	NM_014270.4	158	GCC/-	0	.	.	.	.	.	-	A/-	protein_coding	YES	CCDS12425.1	472-474	INDELOCATOR|VARSCANI	.	ACAGATGGCGGCGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF305,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000023064	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000023064	Transcript	1	.	ENSG00000021488	11067	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAT1_HUMAN	SLC7A9	HGNC	K7EIF5_HUMAN	.	UPI0000037773	deletion	SLC7A9,inframe_deletion,p.Ala158del,ENST00000023064,;SLC7A9,inframe_deletion,p.Ala158del,ENST00000590341,;SLC7A9,inframe_deletion,p.Ala158del,ENST00000587772,;RN7SKP22,upstream_gene_variant,,ENST00000365097,;SLC7A9,3_prime_UTR_variant,,ENST00000592232,;SLC7A9,3_prime_UTR_variant,,ENST00000590465,;SLC7A9,non_coding_transcript_exon_variant,,ENST00000589659,;	664-666	131	69	SUCCESS
SLC8A2	6543	.	GRCh37	19	47960478	47960478	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763617613	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	99	0	ENST00000236877.6:c.1049G>A	p.Arg350His	p.R350H	ENST00000236877	NM_015063.2	350	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS33065.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGCGGCTC	NONE	.	.	TIGRFAM_domain:TIGR00845,hmmpanther:PTHR11878	.	.	ENSP00000236877	.	3/10	.	.	.	.	.	.	.	.	rs763617613	3/10	PASS	ENST00000236877	Transcript	.	.	ENSG00000118160	11069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NAC2_HUMAN	SLC8A2	HGNC	M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN	.	UPI000012FC49	SNV	SLC8A2,missense_variant,p.Arg106His,ENST00000542837,;SLC8A2,missense_variant,p.Arg350His,ENST00000236877,;SLC8A2,intron_variant,,ENST00000539381,;SLC8A2,downstream_gene_variant,,ENST00000594353,;	1445	99	58	SUCCESS
LILRB5	10990	.	GRCh37	19	54756264	54756264	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs776117393	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	92	0	ENST00000449561.2:c.1541C>A	p.Ala514Asp	p.A514D	ENST00000449561		514	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS46176.1	1541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCCCTG	NONE	byFrequency	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85	.	.	ENSP00000406478	.	11/13	.	.	.	.	.	.	.	.	rs776117393	11/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Ala414Asp,ENST00000345866,;LILRB5,missense_variant,p.Ala514Asp,ENST00000449561,;LILRB5,missense_variant,p.Ala505Asp,ENST00000450632,;LILRB5,missense_variant,p.Ala513Asp,ENST00000316219,;CTD-2337J16.1,upstream_gene_variant,,ENST00000595133,;LILRB5,splice_region_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;RPS9,downstream_gene_variant,,ENST00000448962,;	1612	92	77	SUCCESS
BRSK1	84446	.	GRCh37	19	55815039	55815039	+	synonymous_variant	Silent	SNP	C	C	T	rs1028538771	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	52	341	0	ENST00000309383.1:c.1131C>T	p.Pro377=	p.P377=	ENST00000309383	NM_032430.1	377	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12921.1	1131	RADIA|SOMATICSNIPER|VARSCANS	.	GACCCCCCCCG	BUFFER|p.R379fs*54|c.1127_1128insC|6,BUFFER|p.R379fs*9|c.1128delC|3,BUFFER|p.R379fs*9|c.1128delC|3,BUFFER|p.R379fs*54|c.1127_1128insC|6	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130	.	.	ENSP00000310649	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,synonymous_variant,p.%3D,ENST00000326848,;BRSK1,synonymous_variant,p.%3D,ENST00000591774,;BRSK1,synonymous_variant,p.%3D,ENST00000309383,;BRSK1,synonymous_variant,p.%3D,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000585418,;BRSK1,upstream_gene_variant,,ENST00000588584,;BRSK1,non_coding_transcript_exon_variant,,ENST00000586626,;	1408	341	197	SUCCESS
MIIP	60672	.	GRCh37	1	12082273	12082273	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	40	166	0	ENST00000235332.4:c.236C>T	p.Ala79Val	p.A79V	ENST00000235332	NM_021933.3	79	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS143.1	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCCTGTC	BUFFER|p.D78N|c.232G>A|3	.	.	.	.	.	ENSP00000235332	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000235332	Transcript	.	.	ENSG00000116691	25715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	tolerated(0.23)	.	MIIP_HUMAN	MIIP	HGNC	.	.	UPI000013C9CB	SNV	MIIP,missense_variant,p.Ala79Val,ENST00000235332,;MIIP,missense_variant,p.Ala79Val,ENST00000436478,;Y_RNA,downstream_gene_variant,,ENST00000365591,;MIIP,non_coding_transcript_exon_variant,,ENST00000478749,;MIIP,upstream_gene_variant,,ENST00000498685,;MIIP,upstream_gene_variant,,ENST00000466860,;RP5-1077B9.5,upstream_gene_variant,,ENST00000603287,;	405	166	127	SUCCESS
SEMA6C	10500	.	GRCh37	1	151105214	151105214	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	36	190	0	ENST00000341697.3:c.2539G>A	p.Gly847Ser	p.G847S	ENST00000341697		847	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS53364.1	2635	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCGCCGACGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11	.	.	ENSP00000357909	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.935)	.	tolerated_low_confidence(0.06)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Gly847Ser,ENST00000368914,;SEMA6C,missense_variant,p.Gly879Ser,ENST00000368913,;SEMA6C,missense_variant,p.Gly847Ser,ENST00000341697,;SEMA6C,missense_variant,p.Gly839Ser,ENST00000368912,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,intron_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000485745,;SEMA6C,downstream_gene_variant,,ENST00000464018,;SEMA6C,downstream_gene_variant,,ENST00000489944,;	2764	190	116	SUCCESS
NECAP2	55707	.	GRCh37	1	16767319	16767319	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	87	0	ENST00000337132.5:c.63C>T	p.Ile21=	p.I21=	ENST00000337132	NM_018090.4	21	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS44066.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATCCCTCC	NONE	.	.	hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF2,Pfam_domain:PF07933,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000391942	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000443980	Transcript	.	.	ENSG00000157191	25528	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NECP2_HUMAN	NECAP2	HGNC	.	.	UPI0000072819	SNV	NECAP2,synonymous_variant,p.%3D,ENST00000337132,;NECAP2,synonymous_variant,p.%3D,ENST00000504551,;NECAP2,synonymous_variant,p.%3D,ENST00000406746,;NECAP2,synonymous_variant,p.%3D,ENST00000443980,;NECAP2,intron_variant,,ENST00000457722,;SPATA21,upstream_gene_variant,,ENST00000375577,;SPATA21,upstream_gene_variant,,ENST00000335496,;SPATA21,upstream_gene_variant,,ENST00000540400,;NECAP2,non_coding_transcript_exon_variant,,ENST00000486390,;NECAP2,non_coding_transcript_exon_variant,,ENST00000508680,;SPATA21,upstream_gene_variant,,ENST00000466212,;NECAP2,synonymous_variant,p.%3D,ENST00000504858,;NECAP2,synonymous_variant,p.%3D,ENST00000459640,;NECAP2,synonymous_variant,p.%3D,ENST00000492095,;NECAP2,synonymous_variant,p.%3D,ENST00000513161,;NECAP2,non_coding_transcript_exon_variant,,ENST00000496239,;	89	87	66	SUCCESS
TPR	7175	.	GRCh37	1	186295267	186295267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	84	0	ENST00000367478.4:c.5990G>A	p.Gly1997Asp	p.G1997D	ENST00000367478	NM_003292.2	1997	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS41446.1	5990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCCATCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18898	.	.	ENSP00000356448	.	41/51	.	.	.	.	.	.	.	.	.	41/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,missense_variant,p.Gly1997Asp,ENST00000367478,;TPR,upstream_gene_variant,,ENST00000467810,;TPR,non_coding_transcript_exon_variant,,ENST00000492973,;	6287	84	59	SUCCESS
ESRRG	2104	.	GRCh37	1	216680527	216680527	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	42	153	0	ENST00000408911.3:c.1133-2A>T		p.X378_splice	ENST00000408911	NM_001438.3	378		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58061.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCTGTGCA	NONE	.	.	.	.	.	ENSP00000355904	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366937	Transcript	.	.	ENSG00000196482	3474	.	.	HIGH	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,splice_acceptor_variant,,ENST00000493748,;ESRRG,splice_acceptor_variant,,ENST00000487276,;ESRRG,splice_acceptor_variant,,ENST00000391890,;ESRRG,splice_acceptor_variant,,ENST00000366938,;ESRRG,splice_acceptor_variant,,ENST00000463665,;ESRRG,splice_acceptor_variant,,ENST00000366937,;ESRRG,splice_acceptor_variant,,ENST00000360012,;ESRRG,splice_acceptor_variant,,ENST00000361395,;ESRRG,splice_acceptor_variant,,ENST00000408911,;ESRRG,splice_acceptor_variant,,ENST00000366940,;ESRRG,splice_acceptor_variant,,ENST00000361525,;ESRRG,splice_acceptor_variant,,ENST00000359162,;ESRRG,splice_acceptor_variant,,ENST00000493603,;	.	153	155	SUCCESS
ESRRG	2104	.	GRCh37	1	216737654	216737654	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	38	89	0	ENST00000408911.3:c.769G>A	p.Val257Ile	p.V257I	ENST00000408911	NM_001438.3	257	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS58061.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACAGTAG	NONE	.	.	Superfamily_domains:SSF48508,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24084	.	.	ENSP00000355904	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000366937	Transcript	.	.	ENSG00000196482	3474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.45)	.	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,missense_variant,p.Val234Ile,ENST00000493748,;ESRRG,missense_variant,p.Val234Ile,ENST00000487276,;ESRRG,missense_variant,p.Val241Ile,ENST00000391890,;ESRRG,missense_variant,p.Val234Ile,ENST00000366938,;ESRRG,missense_variant,p.Val234Ile,ENST00000475275,;ESRRG,missense_variant,p.Val195Ile,ENST00000463665,;ESRRG,missense_variant,p.Val269Ile,ENST00000366937,;ESRRG,missense_variant,p.Val234Ile,ENST00000360012,;ESRRG,missense_variant,p.Val234Ile,ENST00000361395,;ESRRG,missense_variant,p.Val257Ile,ENST00000408911,;ESRRG,missense_variant,p.Val234Ile,ENST00000366940,;ESRRG,missense_variant,p.Val234Ile,ENST00000361525,;ESRRG,missense_variant,p.Val234Ile,ENST00000359162,;ESRRG,missense_variant,p.Val234Ile,ENST00000493603,;ESRRG,downstream_gene_variant,,ENST00000586199,;	1072	89	138	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232575016	232575016	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	147	0	ENST00000262861.4:c.3869T>C	p.Ile1290Thr	p.I1290T	ENST00000262861	NM_020808.3	1290	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS41474.1	3869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGATCAGG	NONE	.	.	hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Ile1290Thr,ENST00000366630,;SIPA1L2,missense_variant,p.Ile364Thr,ENST00000308942,;SIPA1L2,missense_variant,p.Ile1290Thr,ENST00000262861,;	4228	147	97	SUCCESS
ZNF669	79862	.	GRCh37	1	247263872	247263872	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	45	228	0	ENST00000343381.6:c.1199G>A	p.Ser400Asn	p.S400N	ENST00000343381	NM_024804.2	400	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS31088.1	1199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGACTGAAG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF127,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000342818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343381	Transcript	.	.	ENSG00000188295	25736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.598)	.	tolerated(0.26)	.	ZN669_HUMAN	ZNF669	HGNC	.	.	UPI000013E1E0	SNV	ZNF669,missense_variant,p.Ser400Asn,ENST00000343381,;ZNF669,missense_variant,p.Ser314Asn,ENST00000448299,;ZNF669,3_prime_UTR_variant,,ENST00000358785,;ZNF669,downstream_gene_variant,,ENST00000366501,;ZNF669,downstream_gene_variant,,ENST00000366500,;ZNF669,downstream_gene_variant,,ENST00000476158,;	1372	228	147	SUCCESS
ZC3H12A	80149	.	GRCh37	1	37941375	37941375	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	173	0	ENST00000373087.6:c.278A>G	p.Glu93Gly	p.E93G	ENST00000373087	NM_025079.2	93	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS417.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGAGCGGG	NONE	.	.	hmmpanther:PTHR12876:SF10,hmmpanther:PTHR12876	.	.	ENSP00000362179	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000373087	Transcript	.	.	ENSG00000163874	26259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.07)	.	ZC12A_HUMAN	ZC3H12A	HGNC	C0LED9_HUMAN	.	UPI000004D30E	SNV	ZC3H12A,missense_variant,p.Glu93Gly,ENST00000373087,;LINC01137,upstream_gene_variant,,ENST00000424989,;ZC3H12A,upstream_gene_variant,,ENST00000472312,;	394	173	77	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55118680	55118680	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs371606173	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	97	0	ENST00000414150.2:c.81G>A	p.Pro27=	p.P27=	ENST00000414150		27	ccG/ccA	0	A:0.0003	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS41342.2	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGGGATT	NONE	byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000396622	A:0	3/24	.	.	.	.	.	.	.	.	rs371606173	3/24	PASS	ENST00000421030	Transcript	.	A:0.0002	ENSG00000184313	24802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,synonymous_variant,p.%3D,ENST00000395690,;MROH7,synonymous_variant,p.%3D,ENST00000421030,;MROH7,synonymous_variant,p.%3D,ENST00000339553,;MROH7,intron_variant,,ENST00000454855,;MROH7,intron_variant,,ENST00000409996,;MROH7,intron_variant,,ENST00000545244,;MROH7,non_coding_transcript_exon_variant,,ENST00000472987,;MROH7,intron_variant,,ENST00000478097,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000414150,;MROH7,synonymous_variant,p.%3D,ENST00000438846,;MROH7,synonymous_variant,p.%3D,ENST00000413188,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000425300,;MROH7,synonymous_variant,p.%3D,ENST00000422659,;MROH7,synonymous_variant,p.%3D,ENST00000440047,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000606515,;MROH7,upstream_gene_variant,,ENST00000440217,;	366	97	92	SUCCESS
C1orf141	400757	.	GRCh37	1	67559203	67559203	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	66	0	ENST00000371006.1:c.688C>A	p.His230Asn	p.H230N	ENST00000371006		230	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS30745.1	688	MUTECT|MUSE	.	AGGATGAGAAG	NONE	.	.	Pfam_domain:PF15078	.	.	ENSP00000360046	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371007	Transcript	.	.	ENSG00000203963	32044	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.607)	.	deleterious(0.02)	.	CA141_HUMAN	C1orf141	HGNC	.	.	UPI0000470AFA	SNV	C1orf141,missense_variant,p.His230Asn,ENST00000371007,;C1orf141,missense_variant,p.His230Asn,ENST00000371006,;C1orf141,missense_variant,p.His230Asn,ENST00000544837,;C1orf141,downstream_gene_variant,,ENST00000603691,;C1orf141,downstream_gene_variant,,ENST00000448166,;C1orf141,non_coding_transcript_exon_variant,,ENST00000371004,;	798	66	75	SUCCESS
CLCA1	1179	.	GRCh37	1	86954813	86954813	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	29	92	0	ENST00000234701.3:c.1317C>T	p.Pro439=	p.P439=	ENST00000234701		439	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS709.1	1317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCTCTGC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Gene3D:3.40.50.410,Pfam_domain:PF13519,TIGRFAM_domain:TIGR00868,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000234701	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,synonymous_variant,p.%3D,ENST00000234701,;CLCA1,synonymous_variant,p.%3D,ENST00000394711,;	1668	92	122	SUCCESS
TMEM201	199953	.	GRCh37	1	9661209	9661209	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777509881	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	153	0	ENST00000340381.6:c.653G>T	p.Arg218Leu	p.R218L	ENST00000340381	NM_001130924.2	218	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS44055.2	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTGCCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF10476	.	.	ENSP00000344503	.	5/11	.	.	.	.	.	.	.	.	rs777509881	5/11	PASS	ENST00000340381	Transcript	.	.	ENSG00000188807	33719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0.01)	.	TM201_HUMAN	TMEM201	HGNC	.	.	UPI000022B297	SNV	TMEM201,missense_variant,p.Arg218Leu,ENST00000340381,;TMEM201,missense_variant,p.Arg128Leu,ENST00000416541,;TMEM201,missense_variant,p.Arg218Leu,ENST00000340305,;TMEM201,missense_variant,p.Arg218Leu,ENST00000377376,;	662	153	90	SUCCESS
DPYD	1806	.	GRCh37	1	98165096	98165096	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	90	1	ENST00000370192.3:c.491A>C	p.Lys164Thr	p.K164T	ENST00000370192	NM_000110.3	164	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS30777.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTTTGAAT	NONE	.	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Gene3D:1.10.1060.10,Pfam_domain:PF14691,Superfamily_domains:SSF46548	.	.	ENSP00000359211	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0.01)	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Lys164Thr,ENST00000370192,;DPYD,3_prime_UTR_variant,,ENST00000423006,;DPYD,non_coding_transcript_exon_variant,,ENST00000474241,;	592	91	95	SUCCESS
ABHD12	26090	.	GRCh37	20	25319898	25319898	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs546873766	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	233	83	360	0	ENST00000339157.5:c.281C>T	p.Pro94Leu	p.P94L	ENST00000339157	NM_001042472.2	94	cCt/cTt	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS13172.1	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGACAT	NONE	by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12277:SF47,hmmpanther:PTHR12277	A:0.001	.	ENSP00000365725	A:0	2/13	.	.	.	.	.	.	.	.	rs546873766	2/13	PASS	ENST00000376542	Transcript	1	A:0.0002	ENSG00000100997	15868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	A:0	deleterious(0)	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,missense_variant,p.Pro94Leu,ENST00000339157,;ABHD12,missense_variant,p.Pro49Leu,ENST00000450393,;ABHD12,missense_variant,p.Pro94Leu,ENST00000376542,;ABHD12,5_prime_UTR_variant,,ENST00000471287,;ABHD12,5_prime_UTR_variant,,ENST00000491682,;ABHD12,missense_variant,p.Pro94Leu,ENST00000461204,;	561	360	317	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42164801	42164808	+	frameshift_variant	Frame_Shift_Del	DEL	TGCCTCTC	TGCCTCTC	-	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	TGCCTCTC	TGCCTCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	108	0	ENST00000427442.2:c.1924_1931del	p.Cys642ArgfsTer6	p.C642Rfs*6	ENST00000427442		642	TGCCTCTCa/a	0	.	.	.	.	.	-	CLS/X	protein_coding	YES	CCDS46602.2	1924-1931	VARSCANI*|PINDEL	.	CACCATTGCCTCTCAGGCT	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000402107	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	deletion	L3MBTL1,frameshift_variant,p.Cys574ArgfsTer6,ENST00000444063,;L3MBTL1,frameshift_variant,p.Cys360ArgfsTer6,ENST00000422861,;L3MBTL1,frameshift_variant,p.Cys579ArgfsTer6,ENST00000373134,;L3MBTL1,frameshift_variant,p.Cys574ArgfsTer6,ENST00000373135,;L3MBTL1,frameshift_variant,p.Cys642ArgfsTer6,ENST00000427442,;L3MBTL1,frameshift_variant,p.Cys642ArgfsTer6,ENST00000418998,;L3MBTL1,upstream_gene_variant,,ENST00000471977,;L3MBTL1,3_prime_UTR_variant,,ENST00000445228,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,downstream_gene_variant,,ENST00000483547,;L3MBTL1,downstream_gene_variant,,ENST00000485334,;L3MBTL1,downstream_gene_variant,,ENST00000497347,;L3MBTL1,upstream_gene_variant,,ENST00000494117,;	2083-2090	108	92	SUCCESS
HELZ2	85441	.	GRCh37	20	62200283	62200283	+	synonymous_variant	Silent	SNP	C	C	T	rs151002657	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	73	0	ENST00000467148.1:c.1158G>A	p.Ala386=	p.A386=	ENST00000467148	NM_001037335.2	386	gcG/gcA	0	T:0.0025	T:0.0008	.	T:0	.	T	A	protein_coding	YES	CCDS33508.1	1158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGCGAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332	T:0	T:0	ENSP00000417401	T:0	5/19	.	.	.	.	.	.	.	.	rs151002657	5/19	PASS	ENST00000467148	Transcript	.	T:0.0002	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,upstream_gene_variant,,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,upstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	1228	73	41	SUCCESS
KRTAP6-1	337966	.	GRCh37	21	31986208	31986208	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	114	0	ENST00000329122.2:c.16T>C	p.Tyr6His	p.Y6H	ENST00000329122	NM_181602.1	6	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS13602.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTAGTAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF2,hmmpanther:PTHR31678	.	.	ENSP00000332690	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329122	Transcript	.	.	ENSG00000184724	18931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KRA61_HUMAN	KRTAP6-1	HGNC	.	.	UPI00001A9E58	SNV	KRTAP6-1,missense_variant,p.Tyr6His,ENST00000329122,;KRTAP20-1,upstream_gene_variant,,ENST00000334664,;	42	114	105	SUCCESS
PCP4	5121	.	GRCh37	21	41239392	41239392	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs374815599	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	23	122	0	ENST00000328619.5:c.-36T>A		p.*12*	ENST00000328619	NM_006198.2			0	C:0.0005	.	.	.	.	A	.	protein_coding	YES	CCDS33563.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTGAGCG	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000329403	.	1/3	.	.	.	.	.	.	.	.	rs374815599	1/3	PASS	ENST00000328619	Transcript	.	.	ENSG00000183036	8742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCP4_HUMAN	PCP4	HGNC	.	.	UPI00001697DE	SNV	PCP4,5_prime_UTR_variant,,ENST00000328619,;PCP4,non_coding_transcript_exon_variant,,ENST00000468717,;PCP4,5_prime_UTR_variant,,ENST00000462224,;	150	122	116	SUCCESS
ABCG1	9619	.	GRCh37	21	43621827	43621827	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	123	0	ENST00000398457.2:c.42C>A	p.Cys14Ter	p.C14*	ENST00000398457	NM_207628.1	14	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	.	CCDS42937.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCCCTCA	NONE	.	.	.	.	.	ENSP00000381475	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000398457	Transcript	.	.	ENSG00000160179	73	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCG1_HUMAN	ABCG1	HGNC	O43576_HUMAN	.	UPI000002A315	SNV	ABCG1,stop_gained,p.Cys14Ter,ENST00000398457,;ABCG1,non_coding_transcript_exon_variant,,ENST00000462050,;	302	123	104	SUCCESS
MED15	51586	.	GRCh37	22	20929491	20929491	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	54	0	ENST00000263205.7:c.1244T>A	p.Ile415Asn	p.I415N	ENST00000263205	NM_001003891.1	415	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS33602.1	1244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATCCCTT	NONE	.	.	hmmpanther:PTHR31804,Pfam_domain:PF09606	.	.	ENSP00000263205	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000263205	Transcript	.	.	ENSG00000099917	14248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	.	MED15_HUMAN	MED15	HGNC	Q69YK5_HUMAN,C9JZV5_HUMAN,C9JM58_HUMAN,C9JGN2_HUMAN,C9J1I1_HUMAN,B4DM43_HUMAN,B3KWF1_HUMAN	.	UPI00001313C4	SNV	MED15,missense_variant,p.Ile415Asn,ENST00000263205,;MED15,intron_variant,,ENST00000542773,;MED15,intron_variant,,ENST00000425759,;MED15,intron_variant,,ENST00000292733,;MED15,intron_variant,,ENST00000541476,;MED15,intron_variant,,ENST00000406969,;MED15,intron_variant,,ENST00000382974,;MED15,intron_variant,,ENST00000478831,;MED15,non_coding_transcript_exon_variant,,ENST00000489651,;MED15,intron_variant,,ENST00000433831,;MED15,intron_variant,,ENST00000492381,;	1313	54	30	SUCCESS
SERPIND1	3053	.	GRCh37	22	21140349	21140349	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	152	0	ENST00000215727.5:c.1221G>T	p.Glu407Asp	p.E407D	ENST00000215727	NM_000185.3	407	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13783.1	1221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGTCCCT	NONE	.	.	hmmpanther:PTHR11461:SF30,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000215727	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000215727	Transcript	.	.	ENSG00000099937	4838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.38)	.	HEP2_HUMAN	SERPIND1	HGNC	.	.	UPI000012C603	SNV	SERPIND1,missense_variant,p.Glu407Asp,ENST00000406799,;SERPIND1,missense_variant,p.Glu407Asp,ENST00000215727,;PI4KA,intron_variant,,ENST00000572273,;PI4KA,intron_variant,,ENST00000255882,;PI4KA,intron_variant,,ENST00000466162,;PI4KA,intron_variant,,ENST00000490873,;PI4KA,intron_variant,,ENST00000484220,;	1504	152	86	SUCCESS
ZNF280B	140883	.	GRCh37	22	22842186	22842186	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777191266	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	94	0	ENST00000360412.2:c.1538G>T	p.Gly513Val	p.G513V	ENST00000360412	NM_080764.2	513	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13799.1	1538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATCCTGGC	NONE	.	.	hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	rs777191266,COSM478780	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.704)	.	deleterious(0)	0,1	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,missense_variant,p.Gly513Val,ENST00000406426,;ZNF280B,missense_variant,p.Gly513Val,ENST00000360412,;	2314	94	84	SUCCESS
CELSR1	9620	.	GRCh37	22	46776800	46776800	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	95	0	ENST00000262738.3:c.7141A>G	p.Ser2381Gly	p.S2381G	ENST00000262738	NM_014246.1	2381	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS14076.1	7141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTGTACA	NONE	.	.	Pfam_domain:PF12003,hmmpanther:PTHR24026	.	.	ENSP00000262738	.	22/35	.	.	.	.	.	.	.	.	.	22/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.61)	.	tolerated(0.07)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Ser2381Gly,ENST00000262738,;CELSR1,upstream_gene_variant,,ENST00000468025,;	7141	95	64	SUCCESS
PPP6R2	9701	.	GRCh37	22	50874856	50874856	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751504646	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	56	407	0	ENST00000216061.5:c.1577C>A	p.Thr526Lys	p.T526K	ENST00000216061		526	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS56235.1	1580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACGAACC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12634:SF15,Pfam_domain:PF04499,hmmpanther:PTHR12634	.	.	ENSP00000379090	.	14/23	.	.	.	.	.	.	.	.	rs751504646	14/23	PASS	ENST00000395741	Transcript	.	.	ENSG00000100239	19253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	deleterious(0)	.	PP6R2_HUMAN	PPP6R2	HGNC	.	.	UPI0000453B02	SNV	PPP6R2,missense_variant,p.Thr527Lys,ENST00000395741,;PPP6R2,missense_variant,p.Thr155Lys,ENST00000427222,;PPP6R2,missense_variant,p.Thr526Lys,ENST00000395744,;PPP6R2,missense_variant,p.Thr526Lys,ENST00000359139,;PPP6R2,missense_variant,p.Thr252Lys,ENST00000401672,;PPP6R2,missense_variant,p.Thr526Lys,ENST00000216061,;PPP6R2,upstream_gene_variant,,ENST00000473283,;	1955	407	242	SUCCESS
NCK2	8440	.	GRCh37	2	106497846	106497846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	55	0	ENST00000233154.4:c.289G>A	p.Ala97Thr	p.A97T	ENST00000233154	NM_003581.4	97	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33266.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACGCCGAG	NONE	.	.	hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF29,PIRSF_domain:PIRSF037874	.	.	ENSP00000233154	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000233154	Transcript	.	.	ENSG00000071051	7665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.58)	.	NCK2_HUMAN	NCK2	HGNC	Q53TG4_HUMAN,Q53T91_HUMAN,E9PEE2_HUMAN,E7EPF5_HUMAN	.	UPI000012FE3F	SNV	NCK2,missense_variant,p.Ala97Thr,ENST00000233154,;NCK2,missense_variant,p.Ala97Thr,ENST00000393349,;NCK2,missense_variant,p.Ala97Thr,ENST00000425756,;NCK2,missense_variant,p.Ala97Thr,ENST00000393348,;NCK2,intron_variant,,ENST00000522586,;NCK2,intron_variant,,ENST00000451463,;	731	55	38	SUCCESS
GLI2	2736	.	GRCh37	2	121745883	121745883	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	324	119	767	0	ENST00000361492.4:c.2393T>C	p.Met798Thr	p.M798T	ENST00000361492	NM_005270.4	798	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS33283.1	2393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCATGCTGA	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Met798Thr,ENST00000452319,;GLI2,missense_variant,p.Met798Thr,ENST00000361492,;GLI2,missense_variant,p.Met470Thr,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000445186,;	2453	767	443	SUCCESS
MBD5	55777	.	GRCh37	2	149227600	149227600	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	69	0	ENST00000407073.1:c.2088T>G	p.Phe696Leu	p.F696L	ENST00000407073	NM_018328.4	696	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS33302.1	2088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTCCCAT	NONE	.	.	hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14	.	.	ENSP00000386049	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	tolerated(1)	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,missense_variant,p.Phe696Leu,ENST00000407073,;MBD5,missense_variant,p.Phe696Leu,ENST00000404807,;MBD5,missense_variant,p.Phe436Leu,ENST00000416015,;	3085	69	85	SUCCESS
PTPRN	5798	.	GRCh37	2	220167512	220167512	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1214987031	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	149	0	ENST00000295718.2:c.425T>C	p.Leu142Ser	p.L142S	ENST00000295718	NM_002846.3	142	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS2440.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTAAAAGC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Pfam_domain:PF14948	.	.	ENSP00000295718	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000295718	Transcript	.	.	ENSG00000054356	9676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	PTPRN_HUMAN	PTPRN	HGNC	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN	.	UPI0000132999	SNV	PTPRN,missense_variant,p.Leu52Ser,ENST00000412847,;PTPRN,missense_variant,p.Leu52Ser,ENST00000423636,;PTPRN,missense_variant,p.Leu109Ser,ENST00000440552,;PTPRN,missense_variant,p.Leu142Ser,ENST00000295718,;PTPRN,missense_variant,p.Leu52Ser,ENST00000442029,;PTPRN,missense_variant,p.Leu142Ser,ENST00000409251,;PTPRN,missense_variant,p.Leu52Ser,ENST00000446182,;PTPRN,missense_variant,p.Leu52Ser,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,downstream_gene_variant,,ENST00000468454,;PTPRN,3_prime_UTR_variant,,ENST00000606213,;PTPRN,non_coding_transcript_exon_variant,,ENST00000476930,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,upstream_gene_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000477819,;PTPRN,downstream_gene_variant,,ENST00000484986,;PTPRN,upstream_gene_variant,,ENST00000489650,;	666	149	82	SUCCESS
VWA3B	200403	.	GRCh37	2	98779440	98779440	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	54	0	ENST00000477737.1:c.1114+1G>A		p.X372_splice	ENST00000477737	NM_144992.4	372		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42718.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGTTGGT	NONE	.	.	.	.	.	ENSP00000417955	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	HIGH	8/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,splice_donor_variant,,ENST00000451075,;VWA3B,splice_donor_variant,,ENST00000477737,;VWA3B,splice_donor_variant,,ENST00000435344,;VWA3B,splice_donor_variant,,ENST00000416277,;VWA3B,splice_donor_variant,,ENST00000422503,;VWA3B,splice_donor_variant,,ENST00000433678,;VWA3B,splice_donor_variant,,ENST00000409460,;VWA3B,splice_donor_variant,,ENST00000448638,;VWA3B,splice_donor_variant,,ENST00000432242,;	.	54	43	SUCCESS
ZBED2	79413	.	GRCh37	3	111312572	111312572	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1404452656	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	61	0	ENST00000317012.4:c.477G>T	p.Glu159Asp	p.E159D	ENST00000317012	NM_024508.4	159	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS2960.2	477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCTCCTT	BUFFER|p.E157K|c.469G>A|4	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.08)	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	SNV	ZBED2,missense_variant,p.Glu159Asp,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	1486	61	56	SUCCESS
BOC	91653	.	GRCh37	3	112997621	112997621	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770329941	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	150	0	ENST00000355385.3:c.1804C>T	p.Arg602Cys	p.R602C	ENST00000355385	NM_033254.2	602	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2971.1	1804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCCGCCTC	NONE	.	.	hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489	.	.	ENSP00000418663	.	11/20	.	.	.	.	.	.	.	.	rs770329941	11/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,missense_variant,p.Arg602Cys,ENST00000355385,;BOC,missense_variant,p.Arg602Cys,ENST00000495514,;BOC,missense_variant,p.Arg603Cys,ENST00000273395,;BOC,non_coding_transcript_exon_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,upstream_gene_variant,,ENST00000463971,;	2508	151	88	SUCCESS
ATR	545	.	GRCh37	3	142272131	142272131	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	24	124	0	ENST00000350721.4:c.2743G>A	p.Val915Ile	p.V915I	ENST00000350721	NM_001184.3	915	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS3124.1	2743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACCAGAG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	13/47	.	.	.	.	.	.	.	.	.	13/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0.01)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Val851Ile,ENST00000383101,;ATR,missense_variant,p.Val915Ile,ENST00000350721,;ATR,downstream_gene_variant,,ENST00000515149,;ATR,downstream_gene_variant,,ENST00000515863,;	2865	124	116	SUCCESS
NCBP2	22916	.	GRCh37	3	196669399	196669399	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	117	0	ENST00000321256.5:c.-25G>A		p.*9*	ENST00000321256	NM_007362.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3323.1	.	MUTECT|MUSE	.	CAATGCGGCGA	NONE	.	.	.	.	.	ENSP00000326806	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000321256	Transcript	.	.	ENSG00000114503	7659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCBP2_HUMAN	NCBP2	HGNC	B3KSB0_HUMAN,C9JQX9_HUMAN	.	UPI0000046578	SNV	NCBP2,5_prime_UTR_variant,,ENST00000427641,;NCBP2,5_prime_UTR_variant,,ENST00000321256,;PIGZ,downstream_gene_variant,,ENST00000413127,;NCBP2,upstream_gene_variant,,ENST00000422610,;NCBP2,upstream_gene_variant,,ENST00000411704,;PIGZ,downstream_gene_variant,,ENST00000412723,;NCBP2,upstream_gene_variant,,ENST00000452404,;NCBP2,upstream_gene_variant,,ENST00000447325,;NCBP2,upstream_gene_variant,,ENST00000455953,;NCBP2-AS2,upstream_gene_variant,,ENST00000602845,;NCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000447775,;NCBP2,upstream_gene_variant,,ENST00000467803,;NCBP2,5_prime_UTR_variant,,ENST00000428425,;NCBP2,non_coding_transcript_exon_variant,,ENST00000463783,;NCBP2,upstream_gene_variant,,ENST00000479647,;NCBP2,upstream_gene_variant,,ENST00000482976,;NCBP2,upstream_gene_variant,,ENST00000468923,;	70	117	61	SUCCESS
AC024560.3	0	.	GRCh37	3	197354690	197354690	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	25	202	0	ENST00000418868.1:n.88G>A		p.*30*	ENST00000418868				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CTTAGCAGCCG	NONE	.	.	.	.	.	.	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000418868	Transcript	.	.	ENSG00000214135	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC024560.3	Clone_based_vega_gene	.	.	.	SNV	AC024560.3,non_coding_transcript_exon_variant,,ENST00000440535,;AC024560.3,non_coding_transcript_exon_variant,,ENST00000418868,;AC024560.3,non_coding_transcript_exon_variant,,ENST00000437008,;AC024560.3,non_coding_transcript_exon_variant,,ENST00000414207,;AC024560.3,non_coding_transcript_exon_variant,,ENST00000449003,;AC024560.3,non_coding_transcript_exon_variant,,ENST00000454517,;	88	202	129	SUCCESS
EPM2AIP1	9852	.	GRCh37	3	37033593	37033593	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	119	0	ENST00000322716.5:c.976G>A	p.Glu326Lys	p.E326K	ENST00000322716	NM_014805.3	326	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46790.1	976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCAGATT	NONE	.	.	hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697	.	.	ENSP00000406027	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322716	Transcript	.	.	ENSG00000178567	19735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	tolerated(0.12)	.	EPMIP_HUMAN	EPM2AIP1	HGNC	.	.	UPI0000073486	SNV	EPM2AIP1,missense_variant,p.Glu326Lys,ENST00000322716,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000231790,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000456676,;MLH1,upstream_gene_variant,,ENST00000539477,;MLH1,upstream_gene_variant,,ENST00000458205,;MLH1,upstream_gene_variant,,ENST00000435176,;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000442249,;MLH1,upstream_gene_variant,,ENST00000454028,;	1203	119	105	SUCCESS
NBEAL2	23218	.	GRCh37	3	47046579	47046579	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	158	0	ENST00000450053.3:c.6412A>C	p.Arg2138=	p.R2138=	ENST00000450053	NM_015175.2	2138	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46817.1	6412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGAGGGAG	NONE	.	.	PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	.	.	ENSP00000415034	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,synonymous_variant,p.%3D,ENST00000450053,;NBEAL2,synonymous_variant,p.%3D,ENST00000292309,;NBEAL2,synonymous_variant,p.%3D,ENST00000416683,;NBEAL2,synonymous_variant,p.%3D,ENST00000383740,;NBEAL2,synonymous_variant,p.%3D,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000486870,;NBEAL2,intron_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000469349,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000477412,;	6591	158	84	SUCCESS
DOCK3	1795	.	GRCh37	3	51284221	51284221	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763769250	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	136	0	ENST00000266037.9:c.2167A>G	p.Ile723Val	p.I723V	ENST00000266037	NM_004947.4	723	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46835.1	2167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACATTCAA	NONE	byFrequency	.	hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000266037	.	22/53	.	.	.	.	.	.	.	.	rs763769250,COSM584369,COSM584368	22/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.194)	.	deleterious(0.01)	0,1,1	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,missense_variant,p.Ile723Val,ENST00000266037,;	2190	136	86	SUCCESS
DAPP1	27071	.	GRCh37	4	100756800	100756800	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	59	1	ENST00000512369.1:c.122C>T	p.Thr41Ile	p.T41I	ENST00000512369	NM_014395.2	41	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS47112.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACACGCC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF30,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000423602	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000512369	Transcript	.	.	ENSG00000070190	16500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	deleterious(0)	.	DAPP1_HUMAN	DAPP1	HGNC	.	.	UPI0000037612	SNV	DAPP1,missense_variant,p.Thr41Ile,ENST00000512369,;DAPP1,missense_variant,p.Thr41Ile,ENST00000296414,;DAPP1,non_coding_transcript_exon_variant,,ENST00000507994,;	190	60	45	SUCCESS
UGT2B15	7366	.	GRCh37	4	69519871	69519871	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	253	10	240	0	ENST00000338206.5:c.1197T>A	p.Asp399Glu	p.D399E	ENST00000338206	NM_001076.3	399	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3524.1	1197	MUTECT|MUSE	.	TGTTGATCCGC	NONE	.	.	Superfamily_domains:SSF53756,Gene3D:3.40.50.2000,Pfam_domain:PF00201,PROSITE_patterns:PS00375,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178	.	.	ENSP00000341045	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000338206	Transcript	.	.	ENSG00000196620	12546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	tolerated(0.22)	.	UDB15_HUMAN	UGT2B15	HGNC	.	.	UPI000045721A	SNV	UGT2B15,missense_variant,p.Asp399Glu,ENST00000338206,;	1207	240	263	SUCCESS
C4orf26	0	.	GRCh37	4	76489697	76489697	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	76	0	ENST00000435974.2:c.485T>C	p.Phe162Ser	p.F162S	ENST00000435974	NM_001206981.1	162	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS56334.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTTCAGAA	NONE	.	.	.	.	.	ENSP00000406925	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000435974	Transcript	1	.	ENSG00000174792	26300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious_low_confidence(0.02)	.	CD026_HUMAN	C4orf26	HGNC	.	.	UPI0001AE74FF	SNV	C4orf26,missense_variant,p.Phe162Ser,ENST00000435974,;C4orf26,3_prime_UTR_variant,,ENST00000311623,;C4orf26,downstream_gene_variant,,ENST00000514064,;C4orf26,3_prime_UTR_variant,,ENST00000511093,;	503	76	72	SUCCESS
MMRN1	22915	.	GRCh37	4	90857805	90857805	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	23	124	0	ENST00000264790.2:c.2974G>T	p.Gly992Cys	p.G992C	ENST00000264790	NM_007351.2	992	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS3635.1	2974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTGGTAGT	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.03)	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,missense_variant,p.Gly992Cys,ENST00000394980,;MMRN1,missense_variant,p.Gly734Cys,ENST00000508372,;MMRN1,missense_variant,p.Gly992Cys,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	3293	125	119	SUCCESS
KCTD16	57528	.	GRCh37	5	143853667	143853667	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs746442641	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	35	113	1	ENST00000507359.3:c.1277A>T	p.Tyr426Phe	p.Y426F	ENST00000507359	NM_020768.3	426	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS34260.1	1277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTATCATC	NONE	.	.	hmmpanther:PTHR14499:SF28,hmmpanther:PTHR14499	.	.	ENSP00000426548	.	3/3	.	.	.	.	.	.	.	.	rs746442641	3/3	PASS	ENST00000507359	Transcript	.	.	ENSG00000183775	29244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	KCD16_HUMAN	KCTD16	HGNC	.	.	UPI000004A046	SNV	KCTD16,missense_variant,p.Tyr426Phe,ENST00000507359,;KCTD16,missense_variant,p.Tyr426Phe,ENST00000512467,;	2368	114	137	SUCCESS
DOCK2	1794	.	GRCh37	5	169496161	169496161	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	37	224	0	ENST00000256935.8:c.4665T>A	p.Tyr1555Ter	p.Y1555*	ENST00000256935	NM_004946.2	1555	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS4371.1	4665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTATGTCAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000256935	.	46/52	.	.	.	.	.	.	.	.	.	46/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,stop_gained,p.Tyr616Ter,ENST00000540750,;DOCK2,stop_gained,p.Tyr1555Ter,ENST00000256935,;DOCK2,stop_gained,p.Tyr1047Ter,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	4745	224	159	SUCCESS
MAST4	375449	.	GRCh37	5	66461632	66461632	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	131	0	ENST00000403625.2:c.6625G>T	p.Asp2209Tyr	p.D2209Y	ENST00000403625	NM_001164664.1	2209	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54861.1	6625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGACCGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000385727	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Asp2020Tyr,ENST00000403666,;MAST4,missense_variant,p.Asp2212Tyr,ENST00000404260,;MAST4,missense_variant,p.Asp1266Tyr,ENST00000443808,;MAST4,missense_variant,p.Asp2015Tyr,ENST00000261569,;MAST4,missense_variant,p.Asp2030Tyr,ENST00000405643,;MAST4,missense_variant,p.Asp2209Tyr,ENST00000403625,;	6920	131	88	SUCCESS
SOGA3	387104	.	GRCh37	6	127834064	127834064	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	16	136	0	ENST00000481848.2:c.1457T>C	p.Leu486Ser	p.L486S	ENST00000481848		486	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS43505.1	1457	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTAAAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2	.	.	ENSP00000451768	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000556132	Transcript	.	.	ENSG00000214338	21494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	SOGA3_HUMAN	SOGA3	HGNC	A5PLQ8_HUMAN	.	UPI0000419273	SNV	SOGA3,missense_variant,p.Leu486Ser,ENST00000525778,;SOGA3,missense_variant,p.Leu486Ser,ENST00000556132,;SOGA3,missense_variant,p.Leu486Ser,ENST00000465909,;SOGA3,missense_variant,p.Leu486Ser,ENST00000368268,;SOGA3,downstream_gene_variant,,ENST00000467753,;SOGA3,missense_variant,p.Leu486Ser,ENST00000481848,;	2322	136	124	SUCCESS
TRERF1	55809	.	GRCh37	6	42236802	42236802	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777652690	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	100	0	ENST00000372922.4:c.527C>A	p.Ala176Asp	p.A176D	ENST00000372922	NM_033502.2	176	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4867.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCTCCA	NONE	byFrequency	.	hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	5/18	.	.	.	.	.	.	.	.	rs777652690	5/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	deleterious_low_confidence(0.01)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Ala176Asp,ENST00000541110,;TRERF1,missense_variant,p.Ala176Asp,ENST00000340840,;TRERF1,missense_variant,p.Ala176Asp,ENST00000372922,;TRERF1,missense_variant,p.Ala176Asp,ENST00000372917,;TRERF1,missense_variant,p.Ala176Asp,ENST00000354325,;	1090	100	63	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227933	74227933	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	35	179	0	ENST00000309268.6:c.1084G>T	p.Asp362Tyr	p.D362Y	ENST00000309268		362	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS4980.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATCCAATA	BUFFER|p.P359P|c.1077T>G|3	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	6/7	.	.	.	.	.	.	.	.	COSM1250949,COSM3745353	6/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0.02)	1,1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Asp362Tyr,ENST00000309268,;EEF1A1,missense_variant,p.Asp362Tyr,ENST00000316292,;EEF1A1,missense_variant,p.Asp362Tyr,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2076	179	174	SUCCESS
ZSCAN21	7589	.	GRCh37	7	99654854	99654854	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777289817	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	97	0	ENST00000292450.4:c.225G>T	p.Arg75Ser	p.R75S	ENST00000292450	NM_145914.2	75	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS5681.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGCCCGA	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226:SF10,hmmpanther:PTHR23226,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000292450	.	2/4	.	.	.	.	.	.	.	.	rs777289817	2/4	PASS	ENST00000292450	Transcript	.	.	ENSG00000166529	13104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.527)	.	deleterious(0.01)	.	ZSC21_HUMAN	ZSCAN21	HGNC	Q8N506_HUMAN,C9JHD9_HUMAN	.	UPI000000DBCC	SNV	ZSCAN21,missense_variant,p.Arg75Ser,ENST00000438937,;ZSCAN21,missense_variant,p.Arg75Ser,ENST00000292450,;ZSCAN21,missense_variant,p.Arg75Ser,ENST00000543588,;ZSCAN21,missense_variant,p.Arg75Ser,ENST00000456748,;ZSCAN21,non_coding_transcript_exon_variant,,ENST00000477297,;	389	98	56	SUCCESS
MTSS1	9788	.	GRCh37	8	125565324	125565324	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	18	144	0	ENST00000518547.1:c.2177del	p.Pro726HisfsTer7	p.P726Hfs*7	ENST00000518547	NM_014751.4	726	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS6353.1	2177	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTGTGGAGTA	NONE	.	.	hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10,Pfam_domain:PF02205	.	.	ENSP00000429064	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000518547	Transcript	.	.	ENSG00000170873	20443	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTSS1_HUMAN	MTSS1	HGNC	E5RJX3_HUMAN	.	UPI000019B3D8	deletion	MTSS1,frameshift_variant,p.Pro616HisfsTer7,ENST00000524090,;MTSS1,frameshift_variant,p.Pro444HisfsTer7,ENST00000431961,;MTSS1,frameshift_variant,p.Pro500HisfsTer7,ENST00000395508,;MTSS1,frameshift_variant,p.Pro726HisfsTer7,ENST00000518547,;MTSS1,frameshift_variant,p.Pro701HisfsTer7,ENST00000378017,;MTSS1,frameshift_variant,p.Pro444HisfsTer7,ENST00000354184,;MTSS1,frameshift_variant,p.Pro514HisfsTer7,ENST00000519168,;MTSS1,frameshift_variant,p.Pro730HisfsTer7,ENST00000325064,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000523179,;MTSS1,downstream_gene_variant,,ENST00000522118,;NDUFB9,downstream_gene_variant,,ENST00000517367,;NDUFB9,downstream_gene_variant,,ENST00000276689,;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;MTSS1,downstream_gene_variant,,ENST00000520094,;MTSS1,downstream_gene_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;NDUFB9,downstream_gene_variant,,ENST00000518657,;NDUFB9,downstream_gene_variant,,ENST00000524241,;	2651	144	124	SUCCESS
CSMD1	64478	.	GRCh37	8	3245023	3245023	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748322392	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	71	0	ENST00000537824.1:c.2775C>A	p.Ser925Arg	p.S925R	ENST00000537824	NM_033225.5	925	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS55189.1	2775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGCTGGG	BUFFER|p.A409S|c.1225G>T|3	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	18/70	.	.	.	.	.	.	.	.	rs748322392	18/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ser926Arg,ENST00000400186,;CSMD1,missense_variant,p.Ser925Arg,ENST00000542608,;CSMD1,missense_variant,p.Ser926Arg,ENST00000602723,;CSMD1,missense_variant,p.Ser406Arg,ENST00000335551,;CSMD1,missense_variant,p.Ser925Arg,ENST00000537824,;CSMD1,missense_variant,p.Ser926Arg,ENST00000520002,;CSMD1,missense_variant,p.Ser925Arg,ENST00000539096,;CSMD1,missense_variant,p.Ser926Arg,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	2775	71	66	SUCCESS
CSPP1	79848	.	GRCh37	8	68087747	68087747	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	45	150	0	ENST00000262210.5:c.3094+76G>A		p.*1032*	ENST00000262210	NM_024790.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43744.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTATTGATTTC	NONE	.	.	.	.	.	ENSP00000262210	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	MODIFIER	24/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	ARFGEF1,3_prime_UTR_variant,,ENST00000520381,;CSPP1,intron_variant,,ENST00000519668,;CSPP1,intron_variant,,ENST00000262210,;CSPP1,intron_variant,,ENST00000412460,;ARFGEF1,non_coding_transcript_exon_variant,,ENST00000522878,;CSPP1,intron_variant,,ENST00000521168,;CSPP1,intron_variant,,ENST00000521324,;	.	150	150	SUCCESS
COL15A1	1306	.	GRCh37	9	101759271	101759271	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	33	219	1	ENST00000375001.3:c.860T>G	p.Phe287Cys	p.F287C	ENST00000375001	NM_001855.4	287	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS35081.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTTTGAAG	NONE	.	.	hmmpanther:PTHR24023:SF398,hmmpanther:PTHR24023	.	.	ENSP00000364140	.	6/42	.	.	.	.	.	.	.	.	.	6/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.19)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Phe287Cys,ENST00000375001,;	1283	220	135	SUCCESS
C9orf84	0	.	GRCh37	9	114476836	114476836	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	27	112	0	ENST00000374287.3:c.2112A>T	p.Arg704Ser	p.R704S	ENST00000374287		704	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS6781.3	2112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTCTCCA	NONE	.	.	.	.	.	ENSP00000363405	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000374287	Transcript	.	.	ENSG00000165181	26535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CI084_HUMAN	C9orf84	HGNC	.	.	UPI0000458916	SNV	C9orf84,missense_variant,p.Arg704Ser,ENST00000318737,;C9orf84,missense_variant,p.Arg704Ser,ENST00000374287,;C9orf84,missense_variant,p.Arg665Ser,ENST00000394779,;C9orf84,missense_variant,p.Arg630Ser,ENST00000394777,;	2373	112	118	SUCCESS
SUSD1	64420	.	GRCh37	9	114905792	114905792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	98	0	ENST00000374270.3:c.485C>T	p.Pro162Leu	p.P162L	ENST00000374270	NM_022486.3	162	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6783.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAGGTCCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24051,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000363388	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000374270	Transcript	.	.	ENSG00000106868	25413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	deleterious(0.02)	.	SUSD1_HUMAN	SUSD1	HGNC	.	.	UPI0000049E0D	SNV	SUSD1,missense_variant,p.Pro162Leu,ENST00000374263,;SUSD1,missense_variant,p.Pro146Leu,ENST00000355396,;SUSD1,missense_variant,p.Pro162Leu,ENST00000374270,;SUSD1,missense_variant,p.Pro162Leu,ENST00000374264,;SUSD1,upstream_gene_variant,,ENST00000415074,;SUSD1,non_coding_transcript_exon_variant,,ENST00000482851,;SUSD1,upstream_gene_variant,,ENST00000532348,;	658	98	69	SUCCESS
MAPKAP1	79109	.	GRCh37	9	128206874	128206874	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1460570415	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	78	0	ENST00000265960.3:c.1349A>G	p.His450Arg	p.H450R	ENST00000265960	NM_001006617.1	450	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS35140.1	1349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGTGACCT	NONE	.	.	Pfam_domain:PF05422,hmmpanther:PTHR13335	.	.	ENSP00000265960	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000265960	Transcript	.	.	ENSG00000119487	18752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.55)	.	SIN1_HUMAN	MAPKAP1	HGNC	B1AMB1_HUMAN,B1AMA6_HUMAN	.	UPI00000372F6	SNV	MAPKAP1,missense_variant,p.His258Arg,ENST00000373503,;MAPKAP1,missense_variant,p.His450Arg,ENST00000373498,;MAPKAP1,missense_variant,p.His222Arg,ENST00000420643,;MAPKAP1,missense_variant,p.His258Arg,ENST00000394063,;MAPKAP1,missense_variant,p.His22Arg,ENST00000444226,;MAPKAP1,missense_variant,p.His414Arg,ENST00000350766,;MAPKAP1,missense_variant,p.His450Arg,ENST00000265960,;MAPKAP1,missense_variant,p.His403Arg,ENST00000373511,;MAPKAP1,missense_variant,p.His163Arg,ENST00000373497,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000483937,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496658,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496063,;MAPKAP1,3_prime_UTR_variant,,ENST00000497932,;	1682	78	36	SUCCESS
EHMT1	79813	.	GRCh37	9	140669567	140669567	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1369733741	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	93	0	ENST00000460843.1:c.1654C>T	p.Arg552Trp	p.R552W	ENST00000460843	NM_024757.4	552	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS7050.2	1654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCGGTGC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF290	.	.	ENSP00000417980	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000460843	Transcript	.	.	ENSG00000181090	24650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	deleterious(0.02)	.	EHMT1_HUMAN	EHMT1	HGNC	Q71M33_HUMAN,A0PJE0_HUMAN	.	UPI000194EC2D	SNV	EHMT1,missense_variant,p.Arg521Trp,ENST00000334856,;EHMT1,missense_variant,p.Arg552Trp,ENST00000462484,;EHMT1,missense_variant,p.Arg552Trp,ENST00000460843,;EHMT1,non_coding_transcript_exon_variant,,ENST00000371394,;EHMT1,intron_variant,,ENST00000465566,;EHMT1,missense_variant,p.Arg171Trp,ENST00000462942,;	1681	93	62	SUCCESS
CNTLN	54875	.	GRCh37	9	17298507	17298507	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	52	0	ENST00000380647.3:c.1146+157A>G		p.*382*	ENST00000380647				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43789.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATAACATTT	NONE	.	.	.	.	.	ENSP00000370021	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODIFIER	7/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,3_prime_UTR_variant,,ENST00000380641,;CNTLN,intron_variant,,ENST00000425824,;CNTLN,intron_variant,,ENST00000262360,;CNTLN,intron_variant,,ENST00000380647,;	.	52	55	SUCCESS
POLR1E	64425	.	GRCh37	9	37495240	37495240	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	75	0	ENST00000377792.3:c.808G>T	p.Ala270Ser	p.A270S	ENST00000377792		270	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6611.1	622	MUTECT|MUSE	.	ATGCAGCCAAG	NONE	.	.	Pfam_domain:PF06870,hmmpanther:PTHR14440	.	.	ENSP00000367029	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000377798	Transcript	.	.	ENSG00000137054	17631	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.33)	.	RPA49_HUMAN	POLR1E	HGNC	.	.	UPI00000467F3	SNV	POLR1E,missense_variant,p.Ala138Ser,ENST00000442009,;POLR1E,missense_variant,p.Ala208Ser,ENST00000377798,;POLR1E,missense_variant,p.Ala270Ser,ENST00000377792,;RP11-405L18.4,upstream_gene_variant,,ENST00000422509,;	735	75	58	SUCCESS
PPAPDC2	0	.	GRCh37	9	4662813	4662813	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	55	0	ENST00000381883.2:c.438G>T	p.Trp146Cys	p.W146C	ENST00000381883	NM_203453.3	146	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS34981.1	438	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCTGGCTGCT	NONE	.	.	hmmpanther:PTHR14969:SF18,hmmpanther:PTHR14969,Gene3D:1.20.144.10,Superfamily_domains:SSF48317	.	.	ENSP00000371307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381883	Transcript	.	.	ENSG00000205808	23682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.855)	.	deleterious(0)	.	PPAC2_HUMAN	PPAPDC2	HGNC	.	.	UPI00000529F4	SNV	PPAPDC2,missense_variant,p.Trp146Cys,ENST00000381883,;SPATA6L,intron_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000381890,;SPATA6L,intron_variant,,ENST00000454239,;SPATA6L,intron_variant,,ENST00000485981,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,intron_variant,,ENST00000496798,;SPATA6L,intron_variant,,ENST00000223517,;SPATA6L,downstream_gene_variant,,ENST00000497383,;SPATA6L,intron_variant,,ENST00000461761,;SPATA6L,intron_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000471669,;SPATA6L,intron_variant,,ENST00000406861,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,intron_variant,,ENST00000486047,;	516	55	44	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84532899	84532899	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	21	0	ENST00000527857.1:n.2921G>T		p.*974*	ENST00000527857				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGTCTCT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	2921	21	21	SUCCESS
C9orf47	1903	.	GRCh37	9	91606079	91606079	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	32	269	0	ENST00000334490.5:c.169A>G	p.Ser57Gly	p.S57G	ENST00000334490		57	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS35062.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGAGCTCG	NONE	.	.	.	.	.	ENSP00000335616	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000334490	Transcript	.	.	ENSG00000186354	23669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	tolerated_low_confidence(0.42)	.	CI047_HUMAN	C9orf47	HGNC	.	.	UPI00001C0EE0	SNV	C9orf47,missense_variant,p.Ser57Gly,ENST00000334490,;C9orf47,missense_variant,p.Ser57Gly,ENST00000375850,;C9orf47,missense_variant,p.Ser57Gly,ENST00000375851,;S1PR3,upstream_gene_variant,,ENST00000358157,;	237	270	139	SUCCESS
ARMCX6	54470	.	GRCh37	X	100871590	100871590	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	89	0	ENST00000361910.4:c.21G>T	p.Val7=	p.V7=	ENST00000361910	NM_019007.3	7	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14488.1	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCACTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51257,hmmpanther:PTHR15712:SF6,hmmpanther:PTHR15712	.	.	ENSP00000444537	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000539247	Transcript	.	.	ENSG00000198960	26094	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX6_HUMAN	ARMCX6	HGNC	.	.	UPI00001BBFA2	SNV	ARMCX6,synonymous_variant,p.%3D,ENST00000538627,;ARMCX6,synonymous_variant,p.%3D,ENST00000361910,;ARMCX6,synonymous_variant,p.%3D,ENST00000539247,;ARMCX6,non_coding_transcript_exon_variant,,ENST00000467089,;ARMCX6,non_coding_transcript_exon_variant,,ENST00000495964,;ARMCX6,intron_variant,,ENST00000497931,;ARMCX6,intron_variant,,ENST00000462302,;ARMCX6,downstream_gene_variant,,ENST00000494624,;	454	89	112	SUCCESS
RAB40AL	282808	.	GRCh37	X	102192993	102192993	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	35	137	1	ENST00000218249.5:c.747C>T	p.His249=	p.H249=	ENST00000218249	NM_001031834.1	249	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS35353.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACAAAAG	NONE	.	.	hmmpanther:PTHR24073:SF434,hmmpanther:PTHR24073	.	.	ENSP00000218249	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000218249	Transcript	.	.	ENSG00000102128	25410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB40L_HUMAN	RAB40AL	HGNC	.	.	UPI000013C751	SNV	RAB40AL,synonymous_variant,p.%3D,ENST00000218249,;LL0XNC01-237H1.3,non_coding_transcript_exon_variant,,ENST00000413528,;	794	138	134	SUCCESS
SLC6A14	11254	.	GRCh37	X	115577963	115577963	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	94	174	0	ENST00000371900.4:c.846A>G	p.Arg282=	p.R282=	ENST00000371900	NM_007231.3	282	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS14570.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACGAGGTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF120,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000360967	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000371900	Transcript	.	.	ENSG00000087916	11047	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A14_HUMAN	SLC6A14	HGNC	.	.	UPI0000072E3C	SNV	SLC6A14,synonymous_variant,p.%3D,ENST00000371900,;	934	174	232	SUCCESS
ZNF645	0	.	GRCh37	X	22291149	22291149	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	100	298	0	ENST00000323684.1:c.41A>G	p.Asn14Ser	p.N14S	ENST00000323684	NM_152577.3	14	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS14205.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATAACAAAG	NONE	.	.	hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1	.	.	ENSP00000323348	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323684	Transcript	.	.	ENSG00000175809	26371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.57)	.	ZN645_HUMAN	ZNF645	HGNC	.	.	UPI0000073BD5	SNV	ZNF645,missense_variant,p.Asn14Ser,ENST00000323684,;RP11-40F8.2,intron_variant,,ENST00000608254,;	85	298	183	SUCCESS
CXorf36	0	.	GRCh37	X	45017000	45017000	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	28	85	0	ENST00000398000.2:c.632T>C	p.Leu211Pro	p.L211P	ENST00000398000	NM_176819.3	211	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS48096.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGAGCAGG	NONE	.	.	hmmpanther:PTHR32073:SF8,hmmpanther:PTHR32073,Pfam_domain:PF12260	.	.	ENSP00000381086	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	SNV	CXorf36,missense_variant,p.Leu211Pro,ENST00000398000,;CXorf36,downstream_gene_variant,,ENST00000377934,;CXorf36,intron_variant,,ENST00000477281,;	707	85	54	SUCCESS
CLCN5	1184	.	GRCh37	X	49840465	49840465	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	46	94	0	ENST00000307367.2:c.221T>A	p.Leu74Ter	p.L74*	ENST00000307367		74	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS48115.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTTGATAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:SSF81340,Gene3D:1otsB00,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689	.	.	ENSP00000365256	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000376088	Transcript	.	.	ENSG00000171365	2023	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCN5_HUMAN	CLCN5	HGNC	.	.	UPI0000212052	SNV	CLCN5,stop_gained,p.Leu74Ter,ENST00000307367,;CLCN5,stop_gained,p.Leu144Ter,ENST00000376091,;CLCN5,stop_gained,p.Leu74Ter,ENST00000376108,;CLCN5,stop_gained,p.Leu144Ter,ENST00000376088,;	1072	94	93	SUCCESS
FGD1	2245	.	GRCh37	X	54496732	54496732	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	68	0	ENST00000375135.3:c.818G>T	p.Arg273Leu	p.R273L	ENST00000375135	NM_004463.2	273	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS14359.1	818	MUTECT|VARSCANS	.	CGTCCCGGGGC	NONE	.	.	hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79	.	.	ENSP00000364277	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000375135	Transcript	.	.	ENSG00000102302	3663	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.13)	.	FGD1_HUMAN	FGD1	HGNC	.	.	UPI000012A705	SNV	FGD1,missense_variant,p.Arg273Leu,ENST00000375135,;	1552	68	49	SUCCESS
TAF1	6872	.	GRCh37	X	70643062	70643062	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	86	0	ENST00000373790.4:c.4545C>T	p.Val1515=	p.V1515=	ENST00000373790	NM_004606.3	1515	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14412.1	4608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTCACCCA	NONE	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,Pfam_domain:PF00439,Gene3D:1.20.920.10,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000276072	.	30/38	.	.	.	.	.	.	.	.	.	30/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,synonymous_variant,p.%3D,ENST00000373790,;TAF1,synonymous_variant,p.%3D,ENST00000276072,;TAF1,synonymous_variant,p.%3D,ENST00000423759,;TAF1,synonymous_variant,p.%3D,ENST00000449580,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,upstream_gene_variant,,ENST00000492404,;TAF1,synonymous_variant,p.%3D,ENST00000437147,;TAF1,synonymous_variant,p.%3D,ENST00000373775,;AL590762.11,upstream_gene_variant,,ENST00000391782,;	4618	86	84	SUCCESS
PDZD7	79955	.	GRCh37	10	102790074	102790074	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	15	0	ENST00000370215.3:c.-98G>A		p.*33*	ENST00000370215	NM_024895.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31269.1	.	RADIA|MUTECT|MUSE	.	CTGTGCGGGGC	NONE	.	.	.	.	.	ENSP00000359234	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000370215	Transcript	1	.	ENSG00000186862	26257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDZD7_HUMAN	PDZD7	HGNC	S4R3X4_HUMAN	.	UPI0000072FD2	SNV	PDZD7,5_prime_UTR_variant,,ENST00000470414,;PDZD7,5_prime_UTR_variant,,ENST00000370215,;SFXN3,upstream_gene_variant,,ENST00000393459,;SFXN3,upstream_gene_variant,,ENST00000224807,;PDZD7,5_prime_UTR_variant,,ENST00000474125,;PDZD7,upstream_gene_variant,,ENST00000476306,;SFXN3,upstream_gene_variant,,ENST00000489434,;	129	15	11	SUCCESS
SORCS1	114815	.	GRCh37	10	108339221	108339221	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	76	0	ENST00000263054.6:c.3277G>A	p.Asp1093Asn	p.D1093N	ENST00000263054	NM_001206570.1	1093	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31283.1	3277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCCACCA	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106	.	.	ENSP00000345964	.	25/27	.	.	.	.	.	.	.	.	COSM348180,COSM348179	25/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.982)	.	deleterious(0.02)	1,1	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Asp1093Asn,ENST00000263054,;SORCS1,missense_variant,p.Asp628Asn,ENST00000369698,;SORCS1,missense_variant,p.Asp108Asn,ENST00000452214,;SORCS1,missense_variant,p.Asp1093Asn,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	3277	76	57	SUCCESS
TACC2	10579	.	GRCh37	10	123844285	123844285	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201466757	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	203	0	ENST00000334433.3:c.2270C>T	p.Thr757Met	p.T757M	ENST00000334433		757	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS7626.1	2270	MUTECT|MUSE	.	GCTGACGTCCC	NONE	byCluster	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	rs201466757	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.54)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Thr757Met,ENST00000369005,;TACC2,missense_variant,p.Thr757Met,ENST00000453444,;TACC2,missense_variant,p.Thr757Met,ENST00000334433,;TACC2,missense_variant,p.Thr757Met,ENST00000515603,;TACC2,missense_variant,p.Thr757Met,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	2610	203	85	SUCCESS
TUBGCP2	10844	.	GRCh37	10	135094884	135094884	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	83	0	ENST00000252936.3:c.2466C>T	p.Ile822=	p.I822=	ENST00000252936		822	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS58105.1	2550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTGATGGT	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF13	.	.	ENSP00000446093	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000543663	Transcript	.	.	ENSG00000130640	18599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCP2_HUMAN	TUBGCP2	HGNC	B3KTU7_HUMAN	.	UPI00020651C0	SNV	TUBGCP2,synonymous_variant,p.%3D,ENST00000252936,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368562,;TUBGCP2,synonymous_variant,p.%3D,ENST00000417178,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368563,;TUBGCP2,synonymous_variant,p.%3D,ENST00000543663,;ADAM8,upstream_gene_variant,,ENST00000486609,;ADAM8,upstream_gene_variant,,ENST00000485491,;ADAM8,upstream_gene_variant,,ENST00000415217,;ADAM8,upstream_gene_variant,,ENST00000445355,;TUBGCP2,non_coding_transcript_exon_variant,,ENST00000477923,;ADAM8,upstream_gene_variant,,ENST00000559180,;TUBGCP2,3_prime_UTR_variant,,ENST00000482278,;ADAM8,upstream_gene_variant,,ENST00000560135,;ADAM8,upstream_gene_variant,,ENST00000463298,;	2590	83	38	SUCCESS
FRMD4A	55691	.	GRCh37	10	14050072	14050072	+	intron_variant	Intron	SNP	C	C	T	rs937348671	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	66	0	ENST00000357447.2:c.46-149160G>A		p.*16*	ENST00000357447	NM_018027.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7101.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCGCCTT	NONE	.	.	.	.	.	ENSP00000350032	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357447	Transcript	.	.	ENSG00000151474	25491	.	.	MODIFIER	2/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRM4A_HUMAN	FRMD4A	HGNC	F8WAN4_HUMAN	.	UPI0000366665	SNV	FRMD4A,missense_variant,p.Arg27His,ENST00000342409,;FRMD4A,intron_variant,,ENST00000378503,;FRMD4A,intron_variant,,ENST00000357447,;RP11-142M10.2,downstream_gene_variant,,ENST00000446193,;	.	66	46	SUCCESS
ARHGAP21	57584	.	GRCh37	10	24889744	24889744	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	172	0	ENST00000396432.2:c.2963C>G	p.Pro988Arg	p.P988R	ENST00000396432	NM_020824.3	988	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS7144.2	2963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGGCTGC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000379709	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000396432	Transcript	.	.	ENSG00000107863	23725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.04)	.	RHG21_HUMAN	ARHGAP21	HGNC	E7ESW5_HUMAN	.	UPI0001639C78	SNV	ARHGAP21,missense_variant,p.Pro988Arg,ENST00000446003,;ARHGAP21,missense_variant,p.Pro988Arg,ENST00000396432,;ARHGAP21,missense_variant,p.Pro775Arg,ENST00000320481,;ARHGAP21,missense_variant,p.Pro978Arg,ENST00000376410,;ARHGAP21,upstream_gene_variant,,ENST00000418325,;ARHGAP21,upstream_gene_variant,,ENST00000418033,;ARHGAP21,intron_variant,,ENST00000493154,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;	3450	172	125	SUCCESS
KIAA1462	0	.	GRCh37	10	30316257	30316257	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	64	0	ENST00000375377.1:c.2820T>C	p.Gly940=	p.G940=	ENST00000375377	NM_020848.2	940	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41500.1	2820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCACCTTC	NONE	.	.	Pfam_domain:PF15351	.	.	ENSP00000364526	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000375377	Transcript	.	.	ENSG00000165757	29283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JCAD_HUMAN	KIAA1462	HGNC	.	.	UPI00001D8117	SNV	KIAA1462,synonymous_variant,p.%3D,ENST00000375377,;	2922	64	22	SUCCESS
PLAU	5328	.	GRCh37	10	75673074	75673074	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	96	1	ENST00000372764.3:c.395G>T	p.Trp132Leu	p.W132L	ENST00000372764	NM_002658.3	132	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS7339.1	395	MUTECT|MUSE	.	ACCCTGGTGCT	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF9,PROSITE_patterns:PS00021,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018	.	.	ENSP00000361850	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000372764	Transcript	1	.	ENSG00000122861	9052	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UROK_HUMAN	PLAU	HGNC	S4R3G7_HUMAN,Q9UEJ5_HUMAN,Q96SE8_HUMAN	.	UPI000013CB02	SNV	PLAU,missense_variant,p.Trp115Leu,ENST00000446342,;PLAU,missense_variant,p.Trp96Leu,ENST00000372762,;PLAU,missense_variant,p.Trp132Leu,ENST00000372764,;C10orf55,intron_variant,,ENST00000412307,;C10orf55,intron_variant,,ENST00000409178,;PLAU,downstream_gene_variant,,ENST00000481390,;PLAU,non_coding_transcript_exon_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;	488	97	46	SUCCESS
ITIH2	3698	.	GRCh37	10	7749193	7749193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	80	0	ENST00000358415.4:c.189G>T	p.Met63Ile	p.M63I	ENST00000358415	NM_002216.2	63	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31141.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGATGGT	NONE	.	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF14,hmmpanther:PTHR10338,SMART_domains:SM00609	.	.	ENSP00000351190	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000358415	Transcript	.	.	ENSG00000151655	6167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	ITIH2_HUMAN	ITIH2	HGNC	.	.	UPI000036665E	SNV	ITIH2,missense_variant,p.Met38Ile,ENST00000429820,;ITIH2,missense_variant,p.Met63Ile,ENST00000358415,;ITIH2,intron_variant,,ENST00000379587,;ITIH2,non_coding_transcript_exon_variant,,ENST00000480387,;ITIH2,non_coding_transcript_exon_variant,,ENST00000473227,;	355	80	59	SUCCESS
MMP3	4314	.	GRCh37	11	102713311	102713311	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	71	0	ENST00000299855.5:c.351-1G>T		p.X117_splice	ENST00000299855	NM_002422.3	117		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8323.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCCTGTAG	NONE	.	.	.	.	.	ENSP00000299855	.	.	.	.	.	.	.	.	.	.	COSM353711	.	PASS	ENST00000299855	Transcript	.	.	ENSG00000149968	7173	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MMP3_HUMAN	MMP3	HGNC	.	.	UPI00000422BF	SNV	MMP3,splice_acceptor_variant,,ENST00000299855,;MMP3,upstream_gene_variant,,ENST00000434103,;MMP3,splice_acceptor_variant,,ENST00000524478,;	.	71	98	SUCCESS
DRD2	1813	.	GRCh37	11	113295414	113295414	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	45	0	ENST00000362072.3:c.-31-10T>C		p.*11*	ENST00000362072	NM_000795.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8361.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAAAAAT	NONE	.	.	.	.	.	ENSP00000354859	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362072	Transcript	.	.	ENSG00000149295	3023	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRD2_HUMAN	DRD2	HGNC	Q6LDH7_HUMAN	.	UPI0000001315	SNV	DRD2,5_prime_UTR_variant,,ENST00000542968,;DRD2,intron_variant,,ENST00000542616,;DRD2,intron_variant,,ENST00000543292,;DRD2,intron_variant,,ENST00000362072,;DRD2,intron_variant,,ENST00000355319,;DRD2,intron_variant,,ENST00000346454,;DRD2,upstream_gene_variant,,ENST00000544518,;DRD2,upstream_gene_variant,,ENST00000538967,;DRD2,upstream_gene_variant,,ENST00000535984,;DRD2,intron_variant,,ENST00000540600,;	.	45	18	SUCCESS
CCDC15	80071	.	GRCh37	11	124857994	124857998	+	frameshift_variant	Frame_Shift_Del	DEL	CAAAT	CAAAT	-	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	CAAAT	CAAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	56	43	131	0	ENST00000344762.5:c.1872_1876del	p.Lys625SerfsTer15	p.K625Sfs*15	ENST00000344762	NM_025004.2	624	ccCAAATgt/ccgt	0	.	.	.	.	.	-	PKC/PX	protein_coding	YES	CCDS44756.1	1872-1876	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTACCCAAATGTCAG	NONE	.	.	hmmpanther:PTHR14817	.	.	ENSP00000341684	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000344762	Transcript	.	.	ENSG00000149548	25798	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD15_HUMAN	CCDC15	HGNC	.	.	UPI0000EE3BEA	deletion	CCDC15,frameshift_variant,p.Lys625SerfsTer15,ENST00000344762,;CCDC15,frameshift_variant,p.Lys625SerfsTer15,ENST00000529051,;	2131-2135	131	99	SUCCESS
ZDHHC13	54503	.	GRCh37	11	19170829	19170829	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	62	0	ENST00000446113.2:c.470T>C	p.Val157Ala	p.V157A	ENST00000446113	NM_019028.2	157	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS44550.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTATTGT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF16,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000400113	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000446113	Transcript	.	.	ENSG00000177054	18413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.326)	.	tolerated(0.45)	.	ZDH13_HUMAN	ZDHHC13	HGNC	.	.	UPI000015F967	SNV	ZDHHC13,missense_variant,p.Val27Ala,ENST00000399351,;ZDHHC13,missense_variant,p.Val157Ala,ENST00000446113,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000530698,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532812,;ZDHHC13,downstream_gene_variant,,ENST00000532026,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000525490,;	591	62	57	SUCCESS
KCNA4	3739	.	GRCh37	11	30034308	30034308	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	140	2	ENST00000328224.6:c.-83T>C		p.*28*	ENST00000328224	NM_002233.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41629.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AAATTAAGGTA	NONE	.	.	.	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,5_prime_UTR_variant,,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	1152	142	88	SUCCESS
OR51L1	119682	.	GRCh37	11	5020444	5020444	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	71	0	ENST00000321543.1:c.232T>C	p.Ser78Pro	p.S78P	ENST00000321543	NM_001004755.1	78	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31369.1	232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGTCTACA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.1)	.	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,missense_variant,p.Ser78Pro,ENST00000321543,;	232	71	88	SUCCESS
SLC22A8	9376	.	GRCh37	11	62760762	62760762	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1196576621	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	65	0	ENST00000336232.2:c.1576G>A	p.Ala526Thr	p.A526T	ENST00000336232	NM_001184736.1	526	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8042.1	1576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCTTTT	NONE	.	.	hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064	.	.	ENSP00000337335	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.46)	.	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,missense_variant,p.Ala403Thr,ENST00000535878,;SLC22A8,missense_variant,p.Ala526Thr,ENST00000336232,;SLC22A8,missense_variant,p.Ala526Thr,ENST00000430500,;SLC22A8,missense_variant,p.Ala435Thr,ENST00000545207,;SLC22A8,3_prime_UTR_variant,,ENST00000311438,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000451262,;SLC22A8,downstream_gene_variant,,ENST00000542904,;	1712	65	70	SUCCESS
PPFIA1	8500	.	GRCh37	11	70201848	70201848	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	16	187	0	ENST00000253925.7:c.2419A>T	p.Ile807Phe	p.I807F	ENST00000253925	NM_003626.3	807	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS31627.1	2419	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCATTGGC	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15	.	.	ENSP00000253925	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000253925	Transcript	.	.	ENSG00000131626	9245	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	LIPA1_HUMAN	PPFIA1	HGNC	E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN	.	UPI0000072426	SNV	PPFIA1,missense_variant,p.Ile807Phe,ENST00000253925,;PPFIA1,missense_variant,p.Ile250Phe,ENST00000528750,;PPFIA1,missense_variant,p.Ile200Phe,ENST00000530798,;PPFIA1,missense_variant,p.Ile807Phe,ENST00000389547,;AP000487.6,intron_variant,,ENST00000528607,;AP000487.4,downstream_gene_variant,,ENST00000324630,;PPFIA1,downstream_gene_variant,,ENST00000526074,;PPFIA1,3_prime_UTR_variant,,ENST00000530294,;PPFIA1,3_prime_UTR_variant,,ENST00000532504,;PPFIA1,3_prime_UTR_variant,,ENST00000530390,;PPFIA1,3_prime_UTR_variant,,ENST00000526262,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000527612,;PPFIA1,downstream_gene_variant,,ENST00000533894,;PPFIA1,downstream_gene_variant,,ENST00000526347,;	2634	187	110	SUCCESS
TMEM135	65084	.	GRCh37	11	87032351	87032351	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	60	0	ENST00000305494.5:c.1353A>T	p.Pro451=	p.P451=	ENST00000305494	NM_022918.3	451	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8280.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGAGTT	NONE	.	.	hmmpanther:PTHR12459:SF4,hmmpanther:PTHR12459	.	.	ENSP00000306344	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000305494	Transcript	.	.	ENSG00000166575	26167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM135_HUMAN	TMEM135	HGNC	Q7Z760_HUMAN,F5H254_HUMAN,B4DKZ1_HUMAN	.	UPI00001FB0C7	SNV	TMEM135,synonymous_variant,p.%3D,ENST00000305494,;TMEM135,synonymous_variant,p.%3D,ENST00000535167,;TMEM135,synonymous_variant,p.%3D,ENST00000532959,;TMEM135,synonymous_variant,p.%3D,ENST00000340353,;TMEM135,non_coding_transcript_exon_variant,,ENST00000528861,;TMEM135,non_coding_transcript_exon_variant,,ENST00000531643,;RP11-777F6.3,downstream_gene_variant,,ENST00000603803,;	1392	60	79	SUCCESS
WDR66	0	.	GRCh37	12	122400054	122400054	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	102	0	ENST00000288912.4:c.2478T>C	p.Thr826=	p.T826=	ENST00000288912	NM_144668.5	826	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41853.1	2478	MUTECT|MUSE	.	GCTACTACCAA	NONE	.	.	hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000288912	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000288912	Transcript	.	.	ENSG00000158023	28506	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR66_HUMAN	WDR66	HGNC	.	.	UPI00001AEB2C	SNV	WDR66,synonymous_variant,p.%3D,ENST00000397454,;WDR66,synonymous_variant,p.%3D,ENST00000288912,;WDR66,non_coding_transcript_exon_variant,,ENST00000545752,;WDR66,downstream_gene_variant,,ENST00000543211,;WDR66,downstream_gene_variant,,ENST00000535257,;	3332	102	42	SUCCESS
TMEM132D	121256	.	GRCh37	12	129569468	129569468	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	11	0	ENST00000422113.2:c.1444-221A>G		p.*482*	ENST00000422113	NM_133448.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9266.1	.	MUTECT|MUSE	.	CAGGCTTCCTG	NONE	.	.	.	.	.	ENSP00000408581	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,5_prime_UTR_variant,,ENST00000389441,;TMEM132D,intron_variant,,ENST00000422113,;	.	11	8	SUCCESS
TMEM132D	121256	.	GRCh37	12	130185157	130185157	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1287424489	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	94	0	ENST00000422113.2:c.166G>A	p.Ala56Thr	p.A56T	ENST00000422113	NM_133448.2	56	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9266.1	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGCGTTGT	BUFFER|p.N55N|c.165C>T|3	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	2/9	.	.	.	.	.	.	.	.	COSM1360061	2/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.08)	.	tolerated(0.09)	1	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Ala56Thr,ENST00000422113,;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	493	94	76	SUCCESS
KRT2	3849	.	GRCh37	12	53040621	53040621	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779911777	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	57	0	ENST00000309680.3:c.1372C>T	p.Arg458Trp	p.R458W	ENST00000309680	NM_000423.2	458	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8835.1	1372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGCGCCA	NONE	byFrequency	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,Gene3D:1.20.5.170,hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000310861	.	7/9	.	.	.	.	.	.	.	.	rs779911777	7/9	PASS	ENST00000309680	Transcript	.	.	ENSG00000172867	6439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	K22E_HUMAN	KRT2	HGNC	.	.	UPI0000367804	SNV	KRT2,missense_variant,p.Arg458Trp,ENST00000309680,;KRT2,downstream_gene_variant,,ENST00000547106,;	1394	57	42	SUCCESS
AMHR2	269	.	GRCh37	12	53819694	53819694	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	48	0	ENST00000257863.4:c.843G>A	p.Leu281=	p.L281=	ENST00000257863	NM_001164690.1	281	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8858.1	843	MUTECT|MUSE|VARSCANS	.	GAACTGCATCC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF037392,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR23255:SF49,hmmpanther:PTHR23255,PROSITE_profiles:PS50011	.	.	ENSP00000257863	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000257863	Transcript	.	.	ENSG00000135409	465	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMHR2_HUMAN	AMHR2	HGNC	H3BPI9_HUMAN	.	UPI0000125970	SNV	AMHR2,synonymous_variant,p.%3D,ENST00000550311,;AMHR2,synonymous_variant,p.%3D,ENST00000257863,;AMHR2,synonymous_variant,p.%3D,ENST00000379791,;AMHR2,5_prime_UTR_variant,,ENST00000550839,;AMHR2,non_coding_transcript_exon_variant,,ENST00000548303,;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000553037,;	923	48	43	SUCCESS
NACA	4666	.	GRCh37	12	57114040	57114040	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	101	0	ENST00000356769.3:c.70+4196A>G		p.*24*	ENST00000356769	NM_001113202.1	425		0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS44925.2	1274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATAATGA	NONE	.	.	hmmpanther:PTHR21713:SF3,hmmpanther:PTHR21713	.	.	ENSP00000448035	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious_low_confidence(0)	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,missense_variant,p.Tyr425Cys,ENST00000550952,;NACA,missense_variant,p.Tyr425Cys,ENST00000454682,;NACA,intron_variant,,ENST00000546862,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000356769,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000549855,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551793,;NACA,intron_variant,,ENST00000548084,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000551520,;	1313	101	93	SUCCESS
LRP1	4035	.	GRCh37	12	57563071	57563071	+	synonymous_variant	Silent	SNP	C	C	T	rs373173236	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	49	0	ENST00000243077.3:c.3144C>T	p.His1048=	p.H1048=	ENST00000243077	NM_002332.2	1048	caC/caT	0	T:0	.	.	.	.	T	H	protein_coding	YES	CCDS8932.1	3144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACACGCCAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	T:0.0002	ENSP00000243077	.	20/89	.	.	.	.	.	.	.	.	rs373173236	20/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,synonymous_variant,p.%3D,ENST00000243077,;LRP1,non_coding_transcript_exon_variant,,ENST00000553446,;LRP1,downstream_gene_variant,,ENST00000556830,;	3610	49	40	SUCCESS
GRIP1	23426	.	GRCh37	12	66838478	66838478	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	10	165	0	ENST00000359742.4:c.1573A>T	p.Met525Leu	p.M525L	ENST00000359742		525	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS41807.1	1417	MUTECT|MUSE|VARSCANS	.	GGCCATCACTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000381098	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Met473Leu,ENST00000538211,;GRIP1,missense_variant,p.Met340Leu,ENST00000538164,;GRIP1,missense_variant,p.Met525Leu,ENST00000286445,;GRIP1,missense_variant,p.Met365Leu,ENST00000536215,;GRIP1,missense_variant,p.Met473Leu,ENST00000398016,;GRIP1,missense_variant,p.Met525Leu,ENST00000359742,;GRIP1,missense_variant,p.Met417Leu,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000543172,;GRIP1,downstream_gene_variant,,ENST00000535002,;	1486	165	116	SUCCESS
NINJ2	4815	.	GRCh37	12	674565	674565	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs989654292	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	101	0	ENST00000305108.4:c.403C>T	p.Arg135Trp	p.R135W	ENST00000305108	NM_016533.4	135	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8505.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGTGCTG	NONE	.	.	hmmpanther:PTHR12316,hmmpanther:PTHR12316:SF7,Pfam_domain:PF04923	.	.	ENSP00000307552	.	3/4	.	.	.	.	.	.	.	.	COSM1362935	3/4	PASS	ENST00000305108	Transcript	.	.	ENSG00000171840	7825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.927)	.	deleterious(0)	1	NINJ2_HUMAN	NINJ2	HGNC	F5H3L1_HUMAN	.	UPI0000231C8B	SNV	NINJ2,missense_variant,p.Arg53Trp,ENST00000542920,;NINJ2,missense_variant,p.Arg135Trp,ENST00000305108,;NINJ2,missense_variant,p.Arg82Trp,ENST00000397265,;NINJ2,3_prime_UTR_variant,,ENST00000433832,;B4GALNT3,downstream_gene_variant,,ENST00000266383,;NINJ2,downstream_gene_variant,,ENST00000537416,;B4GALNT3,downstream_gene_variant,,ENST00000535402,;	684	101	40	SUCCESS
LPCAT3	10162	.	GRCh37	12	7087833	7087833	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781890054	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	150	0	ENST00000261407.4:c.805C>T	p.Arg269Cys	p.R269C	ENST00000261407	NM_005768.5	269	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8572.1	805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGGAACC	NONE	.	.	hmmpanther:PTHR13906:SF9,hmmpanther:PTHR13906,Pfam_domain:PF03062	.	.	ENSP00000261407	.	8/13	.	.	.	.	.	.	.	.	rs781890054	8/13	PASS	ENST00000261407	Transcript	.	.	ENSG00000111684	30244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MBOA5_HUMAN	LPCAT3	HGNC	F5H0M4_HUMAN	.	UPI0000034DFC	SNV	LPCAT3,missense_variant,p.Arg269Cys,ENST00000261407,;EMG1,downstream_gene_variant,,ENST00000261406,;U47924.30,non_coding_transcript_exon_variant,,ENST00000606112,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000535021,;EMG1,intron_variant,,ENST00000564245,;EMG1,intron_variant,,ENST00000539535,;LPCAT3,downstream_gene_variant,,ENST00000540060,;EMG1,downstream_gene_variant,,ENST00000541016,;LPCAT3,downstream_gene_variant,,ENST00000536971,;EMG1,downstream_gene_variant,,ENST00000607161,;LPCAT3,downstream_gene_variant,,ENST00000539868,;EMG1,downstream_gene_variant,,ENST00000539196,;EMG1,downstream_gene_variant,,ENST00000546220,;LPCAT3,downstream_gene_variant,,ENST00000545459,;LPCAT3,missense_variant,p.Arg269Cys,ENST00000535479,;LPCAT3,3_prime_UTR_variant,,ENST00000540090,;LPCAT3,3_prime_UTR_variant,,ENST00000536797,;LPCAT3,3_prime_UTR_variant,,ENST00000543794,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000537179,;EMG1,downstream_gene_variant,,ENST00000451846,;EMG1,downstream_gene_variant,,ENST00000539440,;LPCAT3,downstream_gene_variant,,ENST00000538910,;LPCAT3,downstream_gene_variant,,ENST00000538987,;	891	150	102	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85450034	85450035	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs779699744	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	156	106	272	0	ENST00000393217.2:c.1470dup	p.Arg491ThrfsTer14	p.R491Tfs*14	ENST00000393217	NM_001079910.1	488	gca/gcAa	0	.	.	.	.	.	A	A/AX	protein_coding	YES	CCDS41816.1	1463-1464	INDELOCATOR|VARSCANI	.	CCTAGCAAAAA	NONE	.	.	.	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	rs779699744,COSM1364616,COSM1364615	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	insertion	LRRIQ1,frameshift_variant,p.Arg491ThrfsTer14,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	1524-1525	272	262	SUCCESS
MTUS2	23281	.	GRCh37	13	29600032	29600032	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	86	207	0	ENST00000431530.3:c.1227C>T	p.Gly409=	p.G409=	ENST00000431530	NM_001033602.2	409	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45022.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCTCTGC	NONE	.	.	hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	.	.	ENSP00000392057	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000431530	Transcript	.	.	ENSG00000132938	20595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MTUS2	HGNC	J3KQA9_HUMAN,B4DWQ4_HUMAN	.	UPI0000F734AC	SNV	MTUS2,synonymous_variant,p.%3D,ENST00000431530,;	1285	207	183	SUCCESS
MEDAG	84935	.	GRCh37	13	31480594	31480594	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	66	0	ENST00000380482.4:c.-59C>T		p.*20*	ENST00000380482	NM_032849.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9338.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCGGCTG	NONE	.	.	.	.	.	ENSP00000369849	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000380482	Transcript	.	.	ENSG00000102802	25926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEDAG_HUMAN	MEDAG	HGNC	.	.	UPI000013C771	SNV	MEDAG,5_prime_UTR_variant,,ENST00000380482,;MEDAG,upstream_gene_variant,,ENST00000428944,;TEX26-AS1,intron_variant,,ENST00000593246,;TEX26-AS1,intron_variant,,ENST00000590344,;TEX26-AS1,intron_variant,,ENST00000585870,;TEX26-AS1,intron_variant,,ENST00000592950,;TEX26-AS1,intron_variant,,ENST00000588726,;TEX26-AS1,downstream_gene_variant,,ENST00000590721,;	267	66	39	SUCCESS
PCDH8	5100	.	GRCh37	13	53422137	53422137	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	116	0	ENST00000377942.3:c.435C>T	p.Ser145=	p.S145=	ENST00000377942	NM_002590.3	145	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9438.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGGACAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF46,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000367177	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000377942	Transcript	.	.	ENSG00000136099	8660	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDH8_HUMAN	PCDH8	HGNC	.	.	UPI0000072D47	SNV	PCDH8,synonymous_variant,p.%3D,ENST00000338862,;PCDH8,synonymous_variant,p.%3D,ENST00000377942,;	639	116	62	SUCCESS
AKAP6	9472	.	GRCh37	14	33046347	33046347	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	25	121	0	ENST00000280979.4:c.2368G>T	p.Glu790Ter	p.E790*	ENST00000280979	NM_004274.4	790	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9644.1	2368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGAATTC	NONE	.	.	hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000280979	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,stop_gained,p.Glu790Ter,ENST00000280979,;AKAP6,stop_gained,p.Glu790Ter,ENST00000557272,;AKAP6,stop_gained,p.Glu790Ter,ENST00000557354,;	2538	121	139	SUCCESS
ADCK1	57143	.	GRCh37	14	78288800	78288800	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	54	0	ENST00000238561.5:c.158A>G	p.Tyr53Cys	p.Y53C	ENST00000238561	NM_020421.3	53	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9869.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACTACCTCA	NONE	.	.	hmmpanther:PTHR10566:SF58,hmmpanther:PTHR10566	.	.	ENSP00000238561	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000238561	Transcript	.	.	ENSG00000063761	19038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADCK1_HUMAN	ADCK1	HGNC	.	.	UPI000014035F	SNV	ADCK1,missense_variant,p.Tyr53Cys,ENST00000557501,;ADCK1,missense_variant,p.Tyr53Cys,ENST00000238561,;ADCK1,missense_variant,p.Tyr53Cys,ENST00000341211,;Y_RNA,upstream_gene_variant,,ENST00000362570,;ADCK1,missense_variant,p.Tyr53Cys,ENST00000393639,;ADCK1,missense_variant,p.Tyr53Cys,ENST00000556048,;	257	54	50	SUCCESS
TRPM1	4308	.	GRCh37	15	31360290	31360290	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	47	0	ENST00000397795.2:c.219C>T	p.Ile73=	p.I73=	ENST00000397795	NM_002420.5	73	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS58347.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGGATATA	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,synonymous_variant,p.%3D,ENST00000558445,;TRPM1,synonymous_variant,p.%3D,ENST00000542188,;TRPM1,synonymous_variant,p.%3D,ENST00000558768,;TRPM1,synonymous_variant,p.%3D,ENST00000256552,;TRPM1,synonymous_variant,p.%3D,ENST00000397795,;TRPM1,synonymous_variant,p.%3D,ENST00000559177,;TRPM1,downstream_gene_variant,,ENST00000559179,;MIR211,upstream_gene_variant,,ENST00000384969,;TRPM1,synonymous_variant,p.%3D,ENST00000560801,;TRPM1,synonymous_variant,p.%3D,ENST00000560658,;	650	47	39	SUCCESS
CHRNA7	1139	.	GRCh37	15	32451829	32451829	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs532485785	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	110	0	ENST00000306901.3:c.853G>A	p.Ala285Thr	p.A285T	ENST00000306901	NM_000746.5	285	Gca/Aca	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS53924.1	940	RADIA|VARSCANS	.	TGCCCGCAACA	NONE	by1000G	.	Superfamily_domains:SSF90112,Gene3D:1.20.120.370,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	A:0.001	.	ENSP00000407546	A:0	8/10	.	.	.	.	.	.	.	.	rs532485785	8/10	PASS	ENST00000454250	Transcript	1	A:0.0002	ENSG00000175344	1960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.72)	A:0	tolerated(0.07)	.	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,missense_variant,p.Ala314Thr,ENST00000454250,;CHRNA7,missense_variant,p.Ala104Thr,ENST00000455693,;CHRNA7,missense_variant,p.Ala285Thr,ENST00000306901,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;	1047	111	92	SUCCESS
DUOX1	53905	.	GRCh37	15	45443417	45443417	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	33	108	0	ENST00000321429.4:c.2985C>T	p.Pro995=	p.P995=	ENST00000321429	NM_017434.3	995	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32221.1	2985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCAGGA	NONE	.	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37	.	.	ENSP00000317997	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,synonymous_variant,p.%3D,ENST00000389037,;DUOX1,synonymous_variant,p.%3D,ENST00000561166,;DUOX1,synonymous_variant,p.%3D,ENST00000321429,;CTD-2651B20.1,downstream_gene_variant,,ENST00000558039,;DUOX1,upstream_gene_variant,,ENST00000559221,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000557893,;DUOX1,non_coding_transcript_exon_variant,,ENST00000558446,;DUOX1,upstream_gene_variant,,ENST00000558744,;DUOX1,downstream_gene_variant,,ENST00000559219,;DUOX1,upstream_gene_variant,,ENST00000559716,;	3392	108	65	SUCCESS
DYX1C1	0	.	GRCh37	15	55727133	55727134	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	84	18	145	0	ENST00000321149.3:c.1016dup	p.Asn339LysfsTer7	p.N339Kfs*7	ENST00000321149	NM_130810.3	339	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS10154.1	1016-1017	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTAAGTTTTT	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF277,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000323275	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000321149	Transcript	1	.	ENSG00000256061	21493	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYXC1_HUMAN	DYX1C1	HGNC	.	.	UPI000013E5B8	insertion	DYX1C1,frameshift_variant,p.Asn339LysfsTer7,ENST00000380679,;DYX1C1,frameshift_variant,p.Asn339LysfsTer7,ENST00000448430,;DYX1C1,frameshift_variant,p.Asn339LysfsTer7,ENST00000321149,;DYX1C1,frameshift_variant,p.Asn339LysfsTer7,ENST00000457155,;DYX1C1,frameshift_variant,p.Asn339LysfsTer7,ENST00000348518,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;DYX1C1-CCPG1,intron_variant,,ENST00000568310,;DYX1C1,3_prime_UTR_variant,,ENST00000524160,;	1384-1385	145	102	SUCCESS
TEX9	374618	.	GRCh37	15	56683537	56683537	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	224	52	210	0	ENST00000352903.2:c.492T>A	p.Ile164=	p.I164=	ENST00000352903	NM_198524.1	164	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10157.1	492	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATTGAAGG	NONE	.	.	hmmpanther:PTHR23313	.	.	ENSP00000342169	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000352903	Transcript	.	.	ENSG00000151575	29585	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TEX9_HUMAN	TEX9	HGNC	H0YKG1_HUMAN,B4DH73_HUMAN	.	UPI00000731FD	SNV	TEX9,synonymous_variant,p.%3D,ENST00000558083,;TEX9,synonymous_variant,p.%3D,ENST00000537232,;TEX9,synonymous_variant,p.%3D,ENST00000352903,;TEX9,synonymous_variant,p.%3D,ENST00000560827,;TEX9,synonymous_variant,p.%3D,ENST00000561221,;TEX9,upstream_gene_variant,,ENST00000560582,;RP11-48G14.2,downstream_gene_variant,,ENST00000564401,;TEX9,3_prime_UTR_variant,,ENST00000558127,;TEX9,upstream_gene_variant,,ENST00000559546,;	516	210	277	SUCCESS
SMAD6	4091	.	GRCh37	15	67073814	67073814	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs976407320	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	61	0	ENST00000288840.5:c.1432C>T	p.Arg478Trp	p.R478W	ENST00000288840	NM_005585.4	478	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10221.1	1432	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCGGCAG	NONE	.	.	PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF28,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879	.	.	ENSP00000288840	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000288840	Transcript	1	.	ENSG00000137834	6772	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SMAD6_HUMAN	SMAD6	HGNC	.	.	UPI0000071360	SNV	SMAD6,missense_variant,p.Arg217Trp,ENST00000338426,;SMAD6,missense_variant,p.Arg478Trp,ENST00000288840,;SMAD6,downstream_gene_variant,,ENST00000557916,;SMAD6,downstream_gene_variant,,ENST00000559931,;	2463	61	45	SUCCESS
UACA	55075	.	GRCh37	15	70959216	70959216	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	71	0	ENST00000322954.6:c.3807A>G	p.Ile1269Met	p.I1269M	ENST00000322954	NM_018003.2	1269	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS10235.1	3807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATATTTC	NONE	.	.	hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1	.	.	ENSP00000314556	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000322954	Transcript	.	.	ENSG00000137831	15947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.12)	.	UACA_HUMAN	UACA	HGNC	.	.	UPI000006DCF3	SNV	UACA,missense_variant,p.Ile1160Met,ENST00000539319,;UACA,missense_variant,p.Ile1269Met,ENST00000322954,;UACA,missense_variant,p.Ile1256Met,ENST00000379983,;UACA,missense_variant,p.Ile1254Met,ENST00000560441,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000559290,;	3993	71	86	SUCCESS
C15orf39	56905	.	GRCh37	15	75500060	75500060	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	136	0	ENST00000360639.2:c.1671C>T	p.Gly557=	p.G557=	ENST00000360639		557	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10276.1	1671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCCCCTC	NONE	.	.	.	.	.	ENSP00000353854	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000360639	Transcript	.	.	ENSG00000167173	24497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO039_HUMAN	C15orf39	HGNC	H3BT66_HUMAN,H3BRS2_HUMAN,H3BN41_HUMAN	.	UPI000004F079	SNV	C15orf39,synonymous_variant,p.%3D,ENST00000360639,;C15orf39,synonymous_variant,p.%3D,ENST00000394987,;C15orf39,synonymous_variant,p.%3D,ENST00000567617,;C15orf39,synonymous_variant,p.%3D,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;C15orf39,downstream_gene_variant,,ENST00000563905,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	1991	136	66	SUCCESS
EFTUD1	0	.	GRCh37	15	82512452	82512452	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	78	0	ENST00000268206.7:c.1411A>C	p.Ile471Leu	p.I471L	ENST00000268206	NM_024580.5	471	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS42071.1	1411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATGGCAC	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF3	.	.	ENSP00000268206	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000268206	Transcript	.	.	ENSG00000140598	25789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.68)	.	ETUD1_HUMAN	EFTUD1	HGNC	H0YNW8_HUMAN	.	UPI00001FEA35	SNV	EFTUD1,missense_variant,p.Ile420Leu,ENST00000359445,;EFTUD1,missense_variant,p.Ile471Leu,ENST00000268206,;EFTUD1,upstream_gene_variant,,ENST00000560095,;	1580	78	81	SUCCESS
XYLT1	64131	.	GRCh37	16	17228400	17228400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	48	0	ENST00000261381.6:c.1957C>A	p.His653Asn	p.H653N	ENST00000261381	NM_022166.3	653	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS10569.1	1957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGGTACA	NONE	.	.	Pfam_domain:PF12529,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91	.	.	ENSP00000261381	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000261381	Transcript	.	.	ENSG00000103489	15516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	tolerated(0.14)	.	XYLT1_HUMAN	XYLT1	HGNC	.	.	UPI000000DCCE	SNV	XYLT1,missense_variant,p.His653Asn,ENST00000261381,;CTD-2576D5.4,non_coding_transcript_exon_variant,,ENST00000567344,;	2042	48	54	SUCCESS
IL27	246778	.	GRCh37	16	28511197	28511197	+	synonymous_variant	Silent	SNP	T	T	C	rs751249936	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	133	1	ENST00000356897.1:c.507A>G	p.Glu169=	p.E169=	ENST00000356897	NM_145659.3	169	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS10633.1	507	MUTECT|MUSE	.	TCCTCTTCCTC	BUFFER|p.E166D|c.498G>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20879:SF0,hmmpanther:PTHR20879	.	.	ENSP00000349365	.	5/5	.	.	.	.	.	.	.	.	rs751249936	5/5	PASS	ENST00000356897	Transcript	.	.	ENSG00000197272	19157	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL27A_HUMAN	IL27	HGNC	H3BQY2_HUMAN	.	UPI0000141330	SNV	IL27,synonymous_variant,p.%3D,ENST00000356897,;APOBR,downstream_gene_variant,,ENST00000328423,;APOBR,downstream_gene_variant,,ENST00000431282,;APOBR,downstream_gene_variant,,ENST00000564831,;IL27,downstream_gene_variant,,ENST00000568075,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000567160,;	530	134	53	SUCCESS
C16orf93	0	.	GRCh37	16	30772547	30772547	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	27	250	0	ENST00000543610.1:c.208C>T	p.Pro70Ser	p.P70S	ENST00000543610	NM_001014979.2	70	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32434.2	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCGGCT	NONE	.	.	.	.	.	ENSP00000437532	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000543610	Transcript	.	.	ENSG00000196118	28078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.04)	.	CP093_HUMAN	C16orf93	HGNC	.	.	UPI0000EA2A74	SNV	C16orf93,missense_variant,p.Pro70Ser,ENST00000545825,;C16orf93,missense_variant,p.Pro70Ser,ENST00000541260,;C16orf93,missense_variant,p.Pro70Ser,ENST00000543610,;RNF40,upstream_gene_variant,,ENST00000566811,;RNF40,upstream_gene_variant,,ENST00000563683,;RNF40,upstream_gene_variant,,ENST00000324685,;RNF40,upstream_gene_variant,,ENST00000402121,;RNF40,upstream_gene_variant,,ENST00000565931,;PHKG2,downstream_gene_variant,,ENST00000565897,;PHKG2,downstream_gene_variant,,ENST00000565924,;PHKG2,downstream_gene_variant,,ENST00000328273,;RNF40,upstream_gene_variant,,ENST00000563909,;PHKG2,downstream_gene_variant,,ENST00000424889,;C16orf93,upstream_gene_variant,,ENST00000535476,;RNF40,upstream_gene_variant,,ENST00000565995,;RNF40,upstream_gene_variant,,ENST00000357890,;PHKG2,downstream_gene_variant,,ENST00000563588,;C16orf93,upstream_gene_variant,,ENST00000544613,;C16orf93,3_prime_UTR_variant,,ENST00000545809,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544487,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544643,;C16orf93,non_coding_transcript_exon_variant,,ENST00000543128,;C16orf93,non_coding_transcript_exon_variant,,ENST00000546006,;C16orf93,non_coding_transcript_exon_variant,,ENST00000433909,;PHKG2,downstream_gene_variant,,ENST00000563913,;RNF40,upstream_gene_variant,,ENST00000493683,;PHKG2,downstream_gene_variant,,ENST00000569684,;RNF40,upstream_gene_variant,,ENST00000566703,;PHKG2,downstream_gene_variant,,ENST00000564838,;C16orf93,upstream_gene_variant,,ENST00000537986,;	1170	250	129	SUCCESS
TRIM72	493829	.	GRCh37	16	31226233	31226233	+	synonymous_variant	Silent	SNP	C	C	T	rs761902134	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	37	0	ENST00000322122.3:c.174C>T	p.Ala58=	p.A58=	ENST00000322122	NM_001008274.3	58	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32437.1	174	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCCCCAC	NONE	.	.	hmmpanther:PTHR24103:SF11,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000312675	.	2/7	.	.	.	.	.	.	.	.	rs761902134	2/7	PASS	ENST00000322122	Transcript	.	.	ENSG00000177238	32671	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI72_HUMAN	TRIM72	HGNC	.	.	UPI00001FFF74	SNV	TRIM72,synonymous_variant,p.%3D,ENST00000322122,;PYDC1,downstream_gene_variant,,ENST00000302964,;PYDC1,downstream_gene_variant,,ENST00000568383,;	458	37	24	SUCCESS
SLX4	84464	.	GRCh37	16	3658812	3658812	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	126	0	ENST00000294008.3:c.154A>G	p.Lys52Glu	p.K52E	ENST00000294008	NM_032444.2	52	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10506.2	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTAAAGT	NONE	.	.	.	.	.	ENSP00000294008	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.505)	.	deleterious(0.01)	.	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,missense_variant,p.Lys52Glu,ENST00000294008,;SLX4,non_coding_transcript_exon_variant,,ENST00000486524,;SLX4,non_coding_transcript_exon_variant,,ENST00000466154,;DNASE1,upstream_gene_variant,,ENST00000570769,;	795	126	84	SUCCESS
ABCC11	85320	.	GRCh37	16	48258272	48258272	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	83	0	ENST00000356608.2:c.464T>C	p.Met155Thr	p.M155T	ENST00000356608		155	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS10732.1	464	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCATCACC	NONE	.	.	hmmpanther:PTHR24223:SF168,hmmpanther:PTHR24223,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000378230	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000394747	Transcript	.	.	ENSG00000121270	14639	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.368)	.	tolerated(0.09)	.	ABCCB_HUMAN	ABCC11	HGNC	H3BRJ2_HUMAN	.	UPI0000052711	SNV	ABCC11,missense_variant,p.Met155Thr,ENST00000394747,;ABCC11,missense_variant,p.Met155Thr,ENST00000394748,;ABCC11,missense_variant,p.Met155Thr,ENST00000537808,;ABCC11,missense_variant,p.Met155Thr,ENST00000356608,;ABCC11,missense_variant,p.Met155Thr,ENST00000353782,;ABCC11,missense_variant,p.Met155Thr,ENST00000569991,;ABCC11,upstream_gene_variant,,ENST00000565487,;ABCC11,non_coding_transcript_exon_variant,,ENST00000567385,;	814	83	66	SUCCESS
CMTM4	146223	.	GRCh37	16	66655924	66655924	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	79	0	ENST00000330687.4:c.623+41C>T		p.*208*	ENST00000330687	NM_181521.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10817.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGCACGA	NONE	.	.	.	.	.	ENSP00000333833	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330687	Transcript	.	.	ENSG00000183723	19175	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CKLF4_HUMAN	CMTM4	HGNC	J3QRP2_HUMAN	.	UPI00000740BD	SNV	CMTM4,3_prime_UTR_variant,,ENST00000394106,;CMTM4,3_prime_UTR_variant,,ENST00000563952,;CMTM4,intron_variant,,ENST00000330687,;CMTM4,intron_variant,,ENST00000561680,;CMTM4,upstream_gene_variant,,ENST00000581487,;	.	79	39	SUCCESS
ZNF19	7567	.	GRCh37	16	71512898	71512898	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	81	0	ENST00000288177.5:c.44C>G	p.Thr15Ser	p.T15S	ENST00000288177	NM_006961.3	15	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS10901.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGGTCACC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF59,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000288177	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000288177	Transcript	.	.	ENSG00000157429	12981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.61)	.	deleterious(0)	.	ZNF19_HUMAN	ZNF19	HGNC	J3KT56_HUMAN,H3BQI6_HUMAN,H3BQ26_HUMAN,H3BNI0_HUMAN,H3BNH9_HUMAN	.	UPI00001E0590	SNV	ZNF19,missense_variant,p.Thr2Ser,ENST00000561469,;ZNF19,missense_variant,p.Thr15Ser,ENST00000564225,;ZNF19,missense_variant,p.Thr15Ser,ENST00000564230,;ZNF19,missense_variant,p.Thr15Ser,ENST00000567225,;ZNF19,missense_variant,p.Thr15Ser,ENST00000288177,;ZNF19,missense_variant,p.Thr15Ser,ENST00000566202,;ZNF19,missense_variant,p.Thr15Ser,ENST00000568815,;ZNF19,5_prime_UTR_variant,,ENST00000565637,;ZNF19,intron_variant,,ENST00000565100,;ZNF19,downstream_gene_variant,,ENST00000569072,;ZNF19,missense_variant,p.Thr15Ser,ENST00000565541,;AC010547.9,missense_variant,p.Thr15Ser,ENST00000561908,;ZNF19,3_prime_UTR_variant,,ENST00000569717,;ZNF19,non_coding_transcript_exon_variant,,ENST00000562210,;	300	81	45	SUCCESS
ZNF821	55565	.	GRCh37	16	71894259	71894259	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1446228645	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	72	0	ENST00000425432.1:c.901C>T	p.Arg301Cys	p.R301C	ENST00000425432	NM_001201552.1	301	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS56006.1	901	MUTECT|MUSE	.	TTCACGGTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24404:SF1,hmmpanther:PTHR24404	.	.	ENSP00000398089	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000425432	Transcript	.	.	ENSG00000102984	28043	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN821_HUMAN	ZNF821	HGNC	H3BS68_HUMAN	.	UPI0000EE78C4	SNV	ZNF821,missense_variant,p.Arg301Cys,ENST00000425432,;ZNF821,missense_variant,p.Arg259Cys,ENST00000313565,;ZNF821,missense_variant,p.Arg301Cys,ENST00000568666,;ZNF821,missense_variant,p.Arg301Cys,ENST00000565601,;ZNF821,missense_variant,p.Arg259Cys,ENST00000446827,;ZNF821,3_prime_UTR_variant,,ENST00000564134,;IST1,intron_variant,,ENST00000568581,;ZNF821,downstream_gene_variant,,ENST00000568322,;ZNF821,downstream_gene_variant,,ENST00000562797,;ZNF821,downstream_gene_variant,,ENST00000565516,;ATXN1L,downstream_gene_variant,,ENST00000427980,;ZNF821,downstream_gene_variant,,ENST00000565843,;ATXN1L,intron_variant,,ENST00000569119,;ZNF821,downstream_gene_variant,,ENST00000564943,;ZNF821,3_prime_UTR_variant,,ENST00000568961,;ZNF821,3_prime_UTR_variant,,ENST00000562808,;ZNF821,3_prime_UTR_variant,,ENST00000566987,;ZNF821,3_prime_UTR_variant,,ENST00000563827,;ZNF821,downstream_gene_variant,,ENST00000569186,;ZNF821,downstream_gene_variant,,ENST00000563878,;ZNF821,downstream_gene_variant,,ENST00000562985,;	1281	72	35	SUCCESS
KANSL1	284058	.	GRCh37	17	44128014	44128015	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	88	0	ENST00000574590.1:c.1904dup	p.Cys636ValfsTer16	p.C636Vfs*16	ENST00000574590	NM_001193465.1	635	ctg/ctTg	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS11503.1	1904-1905	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACACAGTGC	NONE	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443	.	.	ENSP00000262419	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	insertion	KANSL1,frameshift_variant,p.Cys636ValfsTer16,ENST00000575318,;KANSL1,frameshift_variant,p.Cys636ValfsTer16,ENST00000574590,;KANSL1,frameshift_variant,p.Cys636ValfsTer16,ENST00000432791,;KANSL1,frameshift_variant,p.Cys636ValfsTer16,ENST00000262419,;KANSL1,frameshift_variant,p.Cys636ValfsTer16,ENST00000572904,;KANSL1,5_prime_UTR_variant,,ENST00000393476,;KANSL1,non_coding_transcript_exon_variant,,ENST00000577114,;KANSL1,upstream_gene_variant,,ENST00000572218,;	2375-2376	88	101	SUCCESS
C17orf80	55028	.	GRCh37	17	71232524	71232524	+	synonymous_variant	Silent	SNP	C	C	T	rs752674149	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	56	178	0	ENST00000359042.2:c.903C>T	p.Thr301=	p.T301=	ENST00000359042	NM_017941.4	301	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11694.1	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCCTGGG	NONE	byFrequency	.	hmmpanther:PTHR16270:SF5,hmmpanther:PTHR16270	.	.	ENSP00000351937	.	3/6	.	.	.	.	.	.	.	.	rs752674149	3/6	PASS	ENST00000359042	Transcript	.	.	ENSG00000141219	29601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ080_HUMAN	C17orf80	HGNC	J3QLV1_HUMAN,J3KTJ7_HUMAN,J3KT60_HUMAN	.	UPI000014128C	SNV	C17orf80,synonymous_variant,p.%3D,ENST00000255557,;C17orf80,synonymous_variant,p.%3D,ENST00000535032,;C17orf80,synonymous_variant,p.%3D,ENST00000359042,;C17orf80,synonymous_variant,p.%3D,ENST00000577615,;C17orf80,synonymous_variant,p.%3D,ENST00000426147,;C17orf80,synonymous_variant,p.%3D,ENST00000268942,;C17orf80,intron_variant,,ENST00000582793,;FAM104A,upstream_gene_variant,,ENST00000403627,;FAM104A,upstream_gene_variant,,ENST00000583024,;C17orf80,downstream_gene_variant,,ENST00000585109,;C17orf80,downstream_gene_variant,,ENST00000582391,;FAM104A,upstream_gene_variant,,ENST00000405159,;FAM104A,upstream_gene_variant,,ENST00000581110,;FAM104A,intron_variant,,ENST00000583178,;	1097	178	138	SUCCESS
RNMT	8731	.	GRCh37	18	13746225	13746225	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	464	90	754	0	ENST00000262173.3:c.1146A>G	p.Ala382=	p.A382=	ENST00000262173		382	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS11867.1	1146	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCAAAGAA	NONE	.	.	Superfamily_domains:SSF53335,PIRSF_domain:PIRSF028762,Pfam_domain:PF03291,Gene3D:3.40.50.150,hmmpanther:PTHR12189,PROSITE_profiles:PS51562	.	.	ENSP00000372804	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000383314	Transcript	.	.	ENSG00000101654	10075	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MCES_HUMAN	RNMT	HGNC	Q9UEB8_HUMAN,K7EPP5_HUMAN,K7EP06_HUMAN,F5H2D9_HUMAN	.	UPI000006F958	SNV	RNMT,synonymous_variant,p.%3D,ENST00000383314,;RNMT,synonymous_variant,p.%3D,ENST00000262173,;RNMT,synonymous_variant,p.%3D,ENST00000589866,;RNMT,synonymous_variant,p.%3D,ENST00000592764,;RNMT,synonymous_variant,p.%3D,ENST00000535051,;RNMT,synonymous_variant,p.%3D,ENST00000543302,;RNMT,upstream_gene_variant,,ENST00000593007,;RNMT,synonymous_variant,p.%3D,ENST00000588457,;RNMT,downstream_gene_variant,,ENST00000588417,;	1386	754	555	SUCCESS
MEP1B	4225	.	GRCh37	18	29787402	29787403	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	123	19	159	0	ENST00000269202.6:c.737_738del	p.Leu246ProfsTer8	p.L246Pfs*8	ENST00000269202	NM_005925.2	245	gaTCtc/gatc	0	.	.	.	.	.	-	DL/DX	protein_coding	YES	CCDS45846.1	735-736	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTGATCTCCTA	NONE	.	.	hmmpanther:PTHR10127:SF312,hmmpanther:PTHR10127,Pfam_domain:PF01400,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001196,Superfamily_domains:SSF55486,Prints_domain:PR00480	.	.	ENSP00000269202	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	deletion	MEP1B,frameshift_variant,p.Leu246ProfsTer8,ENST00000269202,;MEP1B,frameshift_variant,p.Leu246ProfsTer8,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;MEP1B,downstream_gene_variant,,ENST00000581184,;MEP1B,downstream_gene_variant,,ENST00000579919,;	782-783	159	142	SUCCESS
CIB3	117286	.	GRCh37	19	16275694	16275694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	66	115	0	ENST00000269878.4:c.377G>T	p.Trp126Leu	p.W126L	ENST00000269878	NM_054113.2	126	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS12340.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCACGCA	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,hmmpanther:PTHR23056:SF34,hmmpanther:PTHR23056,PROSITE_profiles:PS50222	.	.	ENSP00000269878	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000269878	Transcript	.	.	ENSG00000141977	24580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.21)	.	CIB3_HUMAN	CIB3	HGNC	.	.	UPI00000736D6	SNV	CIB3,missense_variant,p.Trp77Leu,ENST00000379859,;CIB3,missense_variant,p.Trp126Leu,ENST00000269878,;CIB3,non_coding_transcript_exon_variant,,ENST00000541493,;CIB3,3_prime_UTR_variant,,ENST00000597251,;	427	115	182	SUCCESS
MYO9B	4650	.	GRCh37	19	17320402	17320402	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	90	1	ENST00000594824.1:c.5632G>A	p.Glu1878Lys	p.E1878K	ENST00000594824		1878	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46010.1	5632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGGAGATG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000471457	.	36/40	.	.	.	.	.	.	.	.	.	36/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Glu1878Lys,ENST00000595641,;MYO9B,missense_variant,p.Glu1878Lys,ENST00000397274,;MYO9B,missense_variant,p.Glu1878Lys,ENST00000595618,;MYO9B,missense_variant,p.Glu1878Lys,ENST00000594824,;MYO9B,missense_variant,p.Glu80Lys,ENST00000596942,;MYO9B,missense_variant,p.Glu51Lys,ENST00000597073,;MYO9B,missense_variant,p.Glu14Lys,ENST00000598419,;CTD-3032J10.3,upstream_gene_variant,,ENST00000601929,;MYO9B,downstream_gene_variant,,ENST00000593533,;MYO9B,downstream_gene_variant,,ENST00000602158,;MYO9B,upstream_gene_variant,,ENST00000597881,;MYO9B,downstream_gene_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000597572,;	5784	91	78	SUCCESS
MKNK2	2872	.	GRCh37	19	2039656	2039656	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs371172997	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	12	197	0	ENST00000250896.3:c.1354A>G	p.Ser452Gly	p.S452G	ENST00000250896	NM_199054.2	452	Agt/Ggt	0	C:0.0002	C:0	.	C:0	.	C	S/G	protein_coding	YES	CCDS12080.1	1354	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGGCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24349	C:0	C:0	ENSP00000250896	C:0	14/14	.	.	.	.	.	.	.	.	rs371172997	14/14	PASS	ENST00000250896	Transcript	.	C:0.0004	ENSG00000099875	7111	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.556)	C:0.002	deleterious_low_confidence(0.04)	.	MKNK2_HUMAN	MKNK2	HGNC	K7EIN7_HUMAN,B4DEQ4_HUMAN,B3KS07_HUMAN,A4CYL7_HUMAN	.	UPI000006E9B4	SNV	MKNK2,missense_variant,p.Ser321Gly,ENST00000541165,;MKNK2,missense_variant,p.Ser138Gly,ENST00000589441,;MKNK2,missense_variant,p.Ser452Gly,ENST00000591601,;MKNK2,missense_variant,p.Ser452Gly,ENST00000250896,;MKNK2,intron_variant,,ENST00000309340,;MKNK2,intron_variant,,ENST00000591142,;MKNK2,downstream_gene_variant,,ENST00000588014,;MKNK2,downstream_gene_variant,,ENST00000591588,;BTBD2,upstream_gene_variant,,ENST00000590646,;BTBD2,upstream_gene_variant,,ENST00000587742,;BTBD2,upstream_gene_variant,,ENST00000588395,;MKNK2,3_prime_UTR_variant,,ENST00000586828,;MKNK2,non_coding_transcript_exon_variant,,ENST00000587416,;MKNK2,downstream_gene_variant,,ENST00000588346,;MKNK2,downstream_gene_variant,,ENST00000586620,;MKNK2,downstream_gene_variant,,ENST00000585667,;	1599	197	92	SUCCESS
ZNF431	170959	.	GRCh37	19	21350459	21350459	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	71	86	0	ENST00000311048.7:c.309T>C	p.Asp103=	p.D103=	ENST00000311048	NM_133473.2	103	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS32979.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATGAACC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF118	.	.	ENSP00000308578	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000311048	Transcript	.	.	ENSG00000196705	20809	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN431_HUMAN	ZNF431	HGNC	.	.	UPI0000191EAC	SNV	ZNF431,synonymous_variant,p.%3D,ENST00000598331,;ZNF431,synonymous_variant,p.%3D,ENST00000311048,;ZNF431,synonymous_variant,p.%3D,ENST00000600692,;ZNF431,synonymous_variant,p.%3D,ENST00000599296,;ZNF431,intron_variant,,ENST00000594425,;	453	86	157	SUCCESS
ZNF43	7594	.	GRCh37	19	21990788	21990788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	32	0	ENST00000354959.4:c.2051G>T	p.Gly684Val	p.G684V	ENST00000354959	NM_003423.3	684	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12413.2	2051	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347045	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,missense_variant,p.Gly678Val,ENST00000595461,;ZNF43,missense_variant,p.Gly684Val,ENST00000354959,;ZNF43,missense_variant,p.Gly678Val,ENST00000594012,;ZNF43,missense_variant,p.Gly678Val,ENST00000598381,;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;	2221	32	43	SUCCESS
ATP4A	495	.	GRCh37	19	36042401	36042401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	29	122	0	ENST00000262623.3:c.2833G>A	p.Val945Ile	p.V945I	ENST00000262623	NM_000704.2	945	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS12467.1	2833	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACATCGG	NONE	.	.	Prints_domain:PR00121,Superfamily_domains:0049473,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00689,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Transmembrane_helices:TMhelix	.	.	ENSP00000262623	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000262623	Transcript	.	.	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.385)	.	deleterious(0.02)	.	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Val945Ile,ENST00000262623,;TMEM147,downstream_gene_variant,,ENST00000392205,;TMEM147,downstream_gene_variant,,ENST00000222284,;TMEM147,downstream_gene_variant,,ENST00000392204,;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,;ATP4A,downstream_gene_variant,,ENST00000592767,;TMEM147,downstream_gene_variant,,ENST00000593027,;TMEM147,downstream_gene_variant,,ENST00000599895,;TMEM147,downstream_gene_variant,,ENST00000595467,;TMEM147,downstream_gene_variant,,ENST00000477168,;TMEM147,downstream_gene_variant,,ENST00000595180,;	2862	122	99	SUCCESS
PAFAH1B3	5050	.	GRCh37	19	42801514	42801514	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	36	140	1	ENST00000262890.3:c.412C>T	p.Leu138=	p.L138=	ENST00000262890	NM_002573.3	138	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12602.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGGCCCT	NONE	.	.	Superfamily_domains:SSF52266,Pfam_domain:PF13472,Gene3D:3.40.50.1110,hmmpanther:PTHR11852	.	.	ENSP00000444935	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000538771	Transcript	.	.	ENSG00000079462	8576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PA1B3_HUMAN	PAFAH1B3	HGNC	M0R389_HUMAN,M0R323_HUMAN,M0QXS6_HUMAN	.	UPI0000131074	SNV	PAFAH1B3,synonymous_variant,p.%3D,ENST00000262890,;PAFAH1B3,synonymous_variant,p.%3D,ENST00000538771,;PAFAH1B3,synonymous_variant,p.%3D,ENST00000596265,;PAFAH1B3,synonymous_variant,p.%3D,ENST00000595530,;PAFAH1B3,synonymous_variant,p.%3D,ENST00000594989,;CIC,downstream_gene_variant,,ENST00000576505,;CIC,downstream_gene_variant,,ENST00000575354,;CIC,downstream_gene_variant,,ENST00000573349,;CIC,downstream_gene_variant,,ENST00000572681,;PAFAH1B3,downstream_gene_variant,,ENST00000601865,;PAFAH1B3,downstream_gene_variant,,ENST00000599778,;PRR19,upstream_gene_variant,,ENST00000341747,;CIC,downstream_gene_variant,,ENST00000160740,;PRR19,upstream_gene_variant,,ENST00000598490,;PAFAH1B3,downstream_gene_variant,,ENST00000597333,;CIC,downstream_gene_variant,,ENST00000571033,;CIC,downstream_gene_variant,,ENST00000575287,;	769	141	143	SUCCESS
PSG6	5675	.	GRCh37	19	43420365	43420365	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	89	0	ENST00000292125.2:c.339G>A	p.Gln113=	p.Q113=	ENST00000292125	NM_002782.4	113	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS12613.1	339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTGTGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955	.	.	ENSP00000292125	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000292125	Transcript	.	.	ENSG00000170848	9523	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSG6_HUMAN	PSG6	HGNC	.	.	UPI00001327A1	SNV	PSG6,synonymous_variant,p.%3D,ENST00000187910,;PSG6,synonymous_variant,p.%3D,ENST00000402603,;PSG6,synonymous_variant,p.%3D,ENST00000601833,;PSG6,synonymous_variant,p.%3D,ENST00000292125,;PSG6,intron_variant,,ENST00000594375,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,intron_variant,,ENST00000484292,;	384	89	127	SUCCESS
ZNF229	7772	.	GRCh37	19	44934502	44934502	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200548188	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	80	0	ENST00000588931.1:c.454C>A	p.Pro152Thr	p.P152T	ENST00000588931	NM_014518.2	152	Cca/Aca	0	.	T:0	.	T:0	.	T	P/T	protein_coding	YES	CCDS42574.1	454	RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGAAAAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24377	T:0.001	.	ENSP00000466519	T:0	6/6	.	.	.	.	.	.	.	.	rs200548188	6/6	PASS	ENST00000588931	Transcript	.	T:0.0002	ENSG00000167383	13022	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	T:0	deleterious(0.05)	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,missense_variant,p.Pro152Thr,ENST00000588931,;ZNF229,missense_variant,p.Pro146Thr,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	888	80	115	SUCCESS
CD3EAP	0	.	GRCh37	19	45912584	45912584	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs368905711	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	45	178	0	ENST00000309424.3:c.1358C>G	p.Ala453Gly	p.A453G	ENST00000309424	NM_012099.1	453	gCc/gGc	0	T:0	.	.	.	.	G	A/G	protein_coding	YES	CCDS12661.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCCAGGG	NONE	byCluster	.	hmmpanther:PTHR15484:SF7,hmmpanther:PTHR15484	.	T:0.0001	ENSP00000310966	.	3/3	.	.	.	.	.	.	.	.	rs368905711	3/3	PASS	ENST00000309424	Transcript	.	.	ENSG00000117877	24219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.494)	.	deleterious(0)	.	RPA34_HUMAN	CD3EAP	HGNC	K7EQC8_HUMAN	.	UPI0000070847	SNV	CD3EAP,missense_variant,p.Ala453Gly,ENST00000309424,;CD3EAP,missense_variant,p.Ala455Gly,ENST00000589804,;ERCC1,3_prime_UTR_variant,,ENST00000300853,;ERCC1,3_prime_UTR_variant,,ENST00000423698,;ERCC1,downstream_gene_variant,,ENST00000589381,;ERCC1,downstream_gene_variant,,ENST00000591636,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;ERCC1,downstream_gene_variant,,ENST00000590701,;ERCC1,downstream_gene_variant,,ENST00000589165,;ERCC1,downstream_gene_variant,,ENST00000013807,;PPP1R13L,upstream_gene_variant,,ENST00000418234,;PPP1R13L,upstream_gene_variant,,ENST00000360957,;CD3EAP,downstream_gene_variant,,ENST00000592852,;ERCC1,downstream_gene_variant,,ENST00000592083,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;CD3EAP,downstream_gene_variant,,ENST00000590794,;ERCC1,downstream_gene_variant,,ENST00000592444,;ERCC1,downstream_gene_variant,,ENST00000340192,;ERCC1,downstream_gene_variant,,ENST00000592410,;ERCC1,downstream_gene_variant,,ENST00000588738,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;ERCC1,downstream_gene_variant,,ENST00000587888,;	1846	178	161	SUCCESS
EML2	24139	.	GRCh37	19	46124887	46124887	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750037044	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	28	232	0	ENST00000245925.3:c.850C>T	p.Arg284Cys	p.R284C	ENST00000245925	NM_012155.2	284	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS59399.1	1453	RADIA|MUTECT|MUSE|VARSCANS	.	GATACGGTTCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000468312	.	13/22	.	.	.	.	.	.	.	.	rs750037044	13/22	PASS	ENST00000587152	Transcript	.	.	ENSG00000125746	18035	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.888)	.	deleterious(0.02)	.	EMAL2_HUMAN	EML2	HGNC	K7ESL7_HUMAN,K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN	.	UPI0001DD21BF	SNV	EML2,missense_variant,p.Arg25Cys,ENST00000590575,;EML2,missense_variant,p.Arg485Cys,ENST00000587152,;EML2,missense_variant,p.Arg431Cys,ENST00000536630,;EML2,missense_variant,p.Arg284Cys,ENST00000245925,;EML2,missense_variant,p.Arg284Cys,ENST00000589876,;EML2,missense_variant,p.Arg133Cys,ENST00000588496,;EML2,intron_variant,,ENST00000588272,;EML2,upstream_gene_variant,,ENST00000587484,;EML2,non_coding_transcript_exon_variant,,ENST00000586902,;EML2,downstream_gene_variant,,ENST00000590580,;EML2,missense_variant,p.Arg442Cys,ENST00000399594,;EML2,missense_variant,p.Arg284Cys,ENST00000588308,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,non_coding_transcript_exon_variant,,ENST00000588000,;EML2,non_coding_transcript_exon_variant,,ENST00000588610,;EML2,intron_variant,,ENST00000590819,;EML2,upstream_gene_variant,,ENST00000592482,;EML2,downstream_gene_variant,,ENST00000592853,;	1638	232	161	SUCCESS
ZC3H4	23211	.	GRCh37	19	47588594	47588594	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	73	0	ENST00000253048.5:c.948C>A	p.Ser316=	p.S316=	ENST00000253048	NM_015168.1	316	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS42582.1	948	MUTECT|MUSE	.	TCCTTGGAGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13119:SF23,hmmpanther:PTHR13119	.	.	ENSP00000253048	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000253048	Transcript	.	.	ENSG00000130749	17808	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZC3H4_HUMAN	ZC3H4	HGNC	.	.	UPI00001C2000	SNV	ZC3H4,synonymous_variant,p.%3D,ENST00000253048,;ZC3H4,synonymous_variant,p.%3D,ENST00000601973,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000594019,;ZC3H4,downstream_gene_variant,,ENST00000597069,;	986	73	54	SUCCESS
CABP5	56344	.	GRCh37	19	48533839	48533839	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	18	112	0	ENST00000293255.2:c.497A>T	p.Glu166Val	p.E166V	ENST00000293255	NM_019855.4	166	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS12709.1	497	RADIA|MUTECT|MUSE|VARSCANS	.	CAAACTCTGCA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF60,hmmpanther:PTHR23050,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000293255	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000293255	Transcript	.	.	ENSG00000105507	13714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CABP5_HUMAN	CABP5	HGNC	.	.	UPI0000126D6A	SNV	CABP5,missense_variant,p.Glu166Val,ENST00000293255,;	628	112	132	SUCCESS
KIR3DX1	90011	.	GRCh37	19	55045099	55045099	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	58	0	ENST00000221567.6:c.219T>C	p.Thr73=	p.T73=	ENST00000221567		73	acT/acC	0	.	.	.	.	.	C	T	nonsense_mediated_decay	YES	.	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTGGCCT	NONE	.	.	hmmpanther:PTHR11738:SF91,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000221567	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000221567	Transcript	.	.	ENSG00000104970	25043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI3X1_HUMAN	KIR3DX1	HGNC	.	.	UPI0000DE238B	SNV	KIR3DX1,synonymous_variant,p.%3D,ENST00000335056,;KIR3DX1,upstream_gene_variant,,ENST00000482404,;KIR3DX1,synonymous_variant,p.%3D,ENST00000446586,;KIR3DX1,synonymous_variant,p.%3D,ENST00000221567,;KIR3DX1,synonymous_variant,p.%3D,ENST00000434659,;KIR3DX1,synonymous_variant,p.%3D,ENST00000447145,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000465702,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000471931,;	226	58	99	SUCCESS
HSPBP1	23640	.	GRCh37	19	55777301	55777301	+	synonymous_variant	Silent	SNP	C	C	A	rs753643809	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	28	157	0	ENST00000255631.5:c.846G>T	p.Arg282=	p.R282=	ENST00000255631	NM_012267.4	282	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33111.1	846	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCCGCAC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR19316:SF18,hmmpanther:PTHR19316	.	.	ENSP00000255631	.	7/9	.	.	.	.	.	.	.	.	rs753643809	7/9	PASS	ENST00000255631	Transcript	.	.	ENSG00000133265	24989	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HPBP1_HUMAN	HSPBP1	HGNC	K7ERT9_HUMAN,K7EQQ0_HUMAN,K7EN20_HUMAN,K7EL16_HUMAN,K7EKM6_HUMAN	.	UPI0000074015	SNV	HSPBP1,synonymous_variant,p.%3D,ENST00000433386,;HSPBP1,synonymous_variant,p.%3D,ENST00000255631,;HSPBP1,synonymous_variant,p.%3D,ENST00000587922,;HSPBP1,intron_variant,,ENST00000585927,;HSPBP1,intron_variant,,ENST00000376343,;HSPBP1,downstream_gene_variant,,ENST00000587959,;	1157	157	187	SUCCESS
EMR1	0	.	GRCh37	19	6924851	6924851	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	13	60	0	ENST00000312053.4:c.1954T>C	p.Phe652Leu	p.F652L	ENST00000312053	NM_001974.4	652	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS12175.1	1954	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTTCCTC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207,PROSITE_profiles:PS50261,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000311545	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000312053	Transcript	.	.	ENSG00000174837	3336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EMR1_HUMAN	EMR1	HGNC	.	.	UPI0000203241	SNV	EMR1,missense_variant,p.Phe600Leu,ENST00000381404,;EMR1,missense_variant,p.Phe511Leu,ENST00000381407,;EMR1,missense_variant,p.Phe475Leu,ENST00000450315,;EMR1,missense_variant,p.Phe652Leu,ENST00000312053,;EMR1,intron_variant,,ENST00000250572,;	1991	60	98	SUCCESS
ACTL9	284382	.	GRCh37	19	8807887	8807887	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	19	191	0	ENST00000324436.3:c.1165T>A	p.Ser389Thr	p.S389T	ENST00000324436	NM_178525.3	389	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS12207.1	1165	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGAGGCCA	NONE	.	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194	.	.	ENSP00000316674	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000324436	Transcript	.	.	ENSG00000181786	28494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ACTL9_HUMAN	ACTL9	HGNC	.	.	UPI000014129E	SNV	ACTL9,missense_variant,p.Ser389Thr,ENST00000324436,;	1286	191	158	SUCCESS
OLFML3	56944	.	GRCh37	1	114524060	114524060	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772902202	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	43	0	ENST00000320334.4:c.890G>T	p.Cys297Phe	p.C297F	ENST00000320334	NM_020190.2	297	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS870.1	890	MUTECT|MUSE	.	CTTGTGTCTGG	NONE	.	.	SMART_domains:SM00284,Pfam_domain:PF02191,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF8,PROSITE_profiles:PS51132	.	.	ENSP00000322273	.	3/3	.	.	.	.	.	.	.	.	rs772902202	3/3	PASS	ENST00000320334	Transcript	.	.	ENSG00000116774	24956	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.462)	.	tolerated(0.52)	.	OLFL3_HUMAN	OLFML3	HGNC	M1LAK4_HUMAN,B4DNG0_HUMAN	.	UPI000003B091	SNV	OLFML3,missense_variant,p.Cys277Phe,ENST00000369551,;OLFML3,missense_variant,p.Cys277Phe,ENST00000393300,;OLFML3,missense_variant,p.Cys297Phe,ENST00000320334,;HIPK1,downstream_gene_variant,,ENST00000361587,;HIPK1,downstream_gene_variant,,ENST00000369554,;HIPK1,downstream_gene_variant,,ENST00000406344,;HIPK1,downstream_gene_variant,,ENST00000369558,;HIPK1,downstream_gene_variant,,ENST00000340480,;OLFML3,non_coding_transcript_exon_variant,,ENST00000491700,;	964	43	51	SUCCESS
CCNL2	81669	.	GRCh37	1	1328031	1328031	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	47	0	ENST00000400809.3:c.659+745C>A		p.*220*	ENST00000400809	NM_030937.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30557.1	.	MUTECT|MUSE	.	CAGGAGTCGGC	NONE	.	.	.	.	.	ENSP00000383611	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,3_prime_UTR_variant,,ENST00000408918,;CCNL2,intron_variant,,ENST00000400809,;CCNL2,intron_variant,,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,intron_variant,,ENST00000471930,;CCNL2,intron_variant,,ENST00000469113,;CCNL2,upstream_gene_variant,,ENST00000505849,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,intron_variant,,ENST00000481223,;CCNL2,intron_variant,,ENST00000482621,;CCNL2,intron_variant,,ENST00000488340,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,upstream_gene_variant,,ENST00000480479,;CCNL2,downstream_gene_variant,,ENST00000463895,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000418865,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,upstream_gene_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000482365,;CCNL2,upstream_gene_variant,,ENST00000492998,;	.	47	21	SUCCESS
FLG2	388698	.	GRCh37	1	152324872	152324872	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	11	78	1	ENST00000388718.5:c.5390G>A	p.Gly1797Glu	p.G1797E	ENST00000388718	NM_001014342.2	1797	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS30861.1	5390	MUTECT|MUSE	.	TTCTTCCAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	COSM3474116	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	.	1	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Gly1797Glu,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	5463	79	139	SUCCESS
FLG2	388698	.	GRCh37	1	152324873	152324873	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	11	79	0	ENST00000388718.5:c.5389G>T	p.Gly1797Ter	p.G1797*	ENST00000388718	NM_001014342.2	1797	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS30861.1	5389	MUTECT|MUSE	.	TCTTCCAGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,stop_gained,p.Gly1797Ter,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	5462	79	139	SUCCESS
KAZN	23254	.	GRCh37	1	15441094	15441094	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1180929668	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	37	232	0	ENST00000376030.2:c.2291T>A	p.Leu764Gln	p.L764Q	ENST00000376030	NM_201628.2	764	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS152.2	2291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCTGGAAG	NONE	.	.	hmmpanther:PTHR12776	.	.	ENSP00000365198	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000376030	Transcript	.	.	ENSG00000189337	29173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	KAZRN_HUMAN	KAZN	HGNC	B4DEV2_HUMAN,B0QYQ6_HUMAN	.	UPI0000E1E68A	SNV	KAZN,missense_variant,p.Leu764Gln,ENST00000376030,;TMEM51-AS1,downstream_gene_variant,,ENST00000310916,;TMEM51-AS1,downstream_gene_variant,,ENST00000404665,;	2585	232	155	SUCCESS
KIAA0907	0	.	GRCh37	1	155887335	155887335	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	15	116	0	ENST00000368321.3:c.1395A>G	p.Thr465=	p.T465=	ENST00000368321	NM_014949.2	465	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS30885.1	1395	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTGTGAA	NONE	.	.	hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0	.	.	ENSP00000357304	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000368321	Transcript	.	.	ENSG00000132680	29145	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K0907_HUMAN	KIAA0907	HGNC	.	.	UPI00001A36E0	SNV	KIAA0907,synonymous_variant,p.%3D,ENST00000368320,;KIAA0907,synonymous_variant,p.%3D,ENST00000368321,;KIAA0907,downstream_gene_variant,,ENST00000368319,;SNORA42,downstream_gene_variant,,ENST00000384744,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000466520,;KIAA0907,downstream_gene_variant,,ENST00000482337,;KIAA0907,downstream_gene_variant,,ENST00000483237,;KIAA0907,upstream_gene_variant,,ENST00000465953,;	1419	116	129	SUCCESS
C1orf111	0	.	GRCh37	1	162344031	162344031	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs377620109	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	12	99	0	ENST00000367935.5:c.593T>A	p.Leu198His	p.L198H	ENST00000367935	NM_182581.3	198	cTc/cAc	0	G:0	.	.	.	.	T	L/H	protein_coding	YES	CCDS1238.1	593	MUTECT|MUSE	.	TCTTGAGGAAG	NONE	byFrequency|byCluster	.	.	.	G:0.0001	ENSP00000356912	.	3/3	.	.	.	.	.	.	.	.	rs377620109	3/3	PASS	ENST00000367935	Transcript	.	.	ENSG00000171722	27648	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CA111_HUMAN	C1orf111	HGNC	.	.	UPI000013EC35	SNV	C1orf111,missense_variant,p.Leu198His,ENST00000367935,;RP11-565P22.6,intron_variant,,ENST00000431696,;C1orf226,intron_variant,,ENST00000420220,;NOS1AP,downstream_gene_variant,,ENST00000493151,;C1orf226,upstream_gene_variant,,ENST00000426197,;NOS1AP,downstream_gene_variant,,ENST00000361897,;NOS1AP,intron_variant,,ENST00000367932,;C1orf111,downstream_gene_variant,,ENST00000493255,;	673	99	151	SUCCESS
DUSP27	0	.	GRCh37	1	167096100	167096100	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756472833	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	27	197	0	ENST00000361200.2:c.1732G>A	p.Glu578Lys	p.E578K	ENST00000361200		578	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS30932.1	1732	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGGAGAAG	NONE	byFrequency	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs756472833	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	tolerated(0.26)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Glu578Lys,ENST00000361200,;DUSP27,missense_variant,p.Glu578Lys,ENST00000443333,;DUSP27,missense_variant,p.Glu578Lys,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1898	197	199	SUCCESS
DCAF6	55827	.	GRCh37	1	168032858	168032858	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	245	33	214	0	ENST00000312263.6:c.2028-1G>C		p.X676_splice	ENST00000312263	NM_001017977.2	676		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55657.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATATAGACGCT	NONE	.	.	.	.	.	ENSP00000356814	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	HIGH	17/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,splice_acceptor_variant,,ENST00000432587,;DCAF6,splice_acceptor_variant,,ENST00000367840,;DCAF6,splice_acceptor_variant,,ENST00000312263,;DCAF6,splice_acceptor_variant,,ENST00000367843,;DCAF6,splice_acceptor_variant,,ENST00000478668,;DCAF6,splice_acceptor_variant,,ENST00000489398,;	.	214	278	SUCCESS
RABGAP1L	9910	.	GRCh37	1	174957817	174957817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	106	0	ENST00000325589.5:c.766A>G	p.Ser256Gly	p.S256G	ENST00000325589		256	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	.	.	766	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAGCAAG	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF205	.	.	ENSP00000318603	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000325589	Transcript	.	.	ENSG00000152061	24663	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.133)	.	tolerated(0.05)	.	RBG1L_HUMAN	RABGAP1L	HGNC	Q9UEL5_HUMAN	.	UPI0000073F62	SNV	RABGAP1L,missense_variant,p.Ser256Gly,ENST00000325589,;RABGAP1L,missense_variant,p.Ser206Gly,ENST00000392064,;RABGAP1L,missense_variant,p.Ser276Gly,ENST00000347255,;RABGAP1L,missense_variant,p.Ser275Gly,ENST00000367687,;RABGAP1L,missense_variant,p.Ser151Gly,ENST00000367688,;RABGAP1L,missense_variant,p.Ser268Gly,ENST00000489615,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000461613,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000367686,;RABGAP1L,intron_variant,,ENST00000485114,;RABGAP1L,3_prime_UTR_variant,,ENST00000469553,;	1161	106	115	SUCCESS
TNN	63923	.	GRCh37	1	175067608	175067608	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	325	102	336	0	ENST00000239462.4:c.1996G>T	p.Val666Leu	p.V666L	ENST00000239462	NM_022093.1	666	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS30943.1	1996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGGTGGGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000239462	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	tolerated(0.15)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Val666Leu,ENST00000239462,;	2109	336	427	SUCCESS
RASAL2	9462	.	GRCh37	1	178408576	178408576	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	48	0	ENST00000462775.1:c.250C>G	p.Leu84Val	p.L84V	ENST00000462775	NM_004841.3	84	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS1321.2	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAACTAAAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF00169,SMART_domains:SM00233	.	.	ENSP00000356621	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.06)	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,missense_variant,p.Leu84Val,ENST00000462775,;RASAL2,missense_variant,p.Leu232Val,ENST00000367649,;RASAL2,missense_variant,p.Leu214Val,ENST00000448150,;	1046	48	101	SUCCESS
TDRD5	163589	.	GRCh37	1	179561920	179561920	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	16	108	0	ENST00000294848.8:c.170T>C	p.Val57Ala	p.V57A	ENST00000294848	NM_173533.3	57	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS55663.1	170	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTATTGG	NONE	.	.	Pfam_domain:PF12872,hmmpanther:PTHR22948,PROSITE_profiles:PS51644	.	.	ENSP00000406052	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.615)	.	deleterious(0)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Val57Ala,ENST00000367614,;TDRD5,missense_variant,p.Val57Ala,ENST00000444136,;TDRD5,missense_variant,p.Val57Ala,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;	420	108	144	SUCCESS
DHX9	1660	.	GRCh37	1	182850422	182850422	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	70	0	ENST00000367549.3:c.2648T>C	p.Ile883Thr	p.I883T	ENST00000367549	NM_001357.4	883	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS41444.1	2648	MUTECT|MUSE|VARSCANS	.	TACCATTGCTG	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	.	.	ENSP00000356520	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.96)	.	deleterious(0.01)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Ile883Thr,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000473076,;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000474446,;DHX9,downstream_gene_variant,,ENST00000490519,;	2758	70	86	SUCCESS
HMCN1	83872	.	GRCh37	1	186052065	186052066	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	392	45	161	0	ENST00000271588.4:c.8862dup	p.Tyr2955IlefsTer3	p.Y2955Ifs*3	ENST00000271588	NM_031935.2	2952	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS30956.1	8856-8857	VARSCANI*|PINDEL	.	AGTGCCAAAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	57/107	.	.	.	.	.	.	.	.	COSM1337141	57/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	6	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	insertion	HMCN1,frameshift_variant,p.Tyr2955IlefsTer3,ENST00000367492,;HMCN1,frameshift_variant,p.Tyr2955IlefsTer3,ENST00000271588,;	9085-9086	161	437	SUCCESS
PLXNA2	5362	.	GRCh37	1	208272269	208272269	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	52	0	ENST00000367033.3:c.1653A>C	p.Arg551=	p.R551=	ENST00000367033	NM_025179.3	551	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS31013.1	1653	MUTECT|MUSE|VARSCANS	.	GCAAATCGATT	NONE	.	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF01437,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000356000	.	6/32	.	.	.	.	.	.	.	.	.	6/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,synonymous_variant,p.%3D,ENST00000367033,;	2411	52	98	SUCCESS
RCOR3	55758	.	GRCh37	1	211462588	211462588	+	synonymous_variant	Silent	SNP	A	A	G	rs376624554	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	75	264	0	ENST00000367005.4:c.615A>G	p.Gln205=	p.Q205=	ENST00000367005	NM_018254.3	205	caA/caG	0	G:0	.	.	.	.	G	Q	protein_coding	YES	CCDS44312.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAACATCG	NONE	.	.	hmmpanther:PTHR16089	.	G:0.0001	ENSP00000413929	.	8/12	.	.	.	.	.	.	.	.	rs376624554	8/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,synonymous_variant,p.%3D,ENST00000534460,;RCOR3,synonymous_variant,p.%3D,ENST00000367006,;RCOR3,synonymous_variant,p.%3D,ENST00000529763,;RCOR3,synonymous_variant,p.%3D,ENST00000419091,;RCOR3,synonymous_variant,p.%3D,ENST00000367005,;RCOR3,synonymous_variant,p.%3D,ENST00000452621,;RCOR3,synonymous_variant,p.%3D,ENST00000528926,;RCOR3,upstream_gene_variant,,ENST00000485186,;	917	264	368	SUCCESS
RD3	343035	.	GRCh37	1	211652629	211652629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1230090648	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	28	149	0	ENST00000367002.4:c.337G>A	p.Glu113Lys	p.E113K	ENST00000367002	NM_001164688.1	113	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1498.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCCTGCA	NONE	.	.	Pfam_domain:PF14473	.	.	ENSP00000355969	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367002	Transcript	.	.	ENSG00000198570	19689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	RD3_HUMAN	RD3	HGNC	.	.	UPI00001BB29F	SNV	RD3,missense_variant,p.Glu113Lys,ENST00000367002,;RD3,non_coding_transcript_exon_variant,,ENST00000484910,;	1501	149	134	SUCCESS
VASH2	79805	.	GRCh37	1	213124966	213124966	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	95	0	ENST00000517399.1:c.82C>T	p.Arg28Trp	p.R28W	ENST00000517399		28	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1511.1	82	MUTECT|MUSE|VARSCANS	.	ACGCGCGGCCC	NONE	.	.	hmmpanther:PTHR15750,hmmpanther:PTHR15750:SF4	.	.	ENSP00000355932	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000366965	Transcript	.	.	ENSG00000143494	25723	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	VASH2_HUMAN	VASH2	HGNC	C9JY36_HUMAN	.	UPI000019273A	SNV	VASH2,missense_variant,p.Arg28Trp,ENST00000517399,;VASH2,missense_variant,p.Arg28Trp,ENST00000366965,;VASH2,5_prime_UTR_variant,,ENST00000366964,;VASH2,5_prime_UTR_variant,,ENST00000490792,;VASH2,5_prime_UTR_variant,,ENST00000366968,;VASH2,intron_variant,,ENST00000366966,;VASH2,intron_variant,,ENST00000366967,;VASH2,non_coding_transcript_exon_variant,,ENST00000493155,;VASH2,intron_variant,,ENST00000271776,;	392	95	96	SUCCESS
DNAH14	127602	.	GRCh37	1	225190629	225190629	+	intron_variant	Intron	SNP	G	G	A	rs1230478867	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	18	52	0	ENST00000445597.2:c.1033-4486G>A		p.*345*	ENST00000445597		325		0	.	.	.	.	.	A	K	protein_coding	YES	CCDS44322.1	975	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGGTGAG	NONE	.	.	hmmpanther:PTHR22645:SF1,hmmpanther:PTHR22645	.	.	ENSP00000383737	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000400952	Transcript	.	.	ENSG00000185842	2945	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0000203FC8	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000366849,;DNAH14,synonymous_variant,p.%3D,ENST00000400952,;DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;	1177	52	145	SUCCESS
RYR2	6262	.	GRCh37	1	237919659	237919659	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs397516502	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	41	0	ENST00000366574.2:c.11217G>T	p.Met3739Ile	p.M3739I	ENST00000366574	NM_001035.2	3739	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS55691.1	11217	MUTECT|MUSE|VARSCANS	uncertain_significance	GAGATGGTGCT	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	81/105	.	.	.	.	.	.	.	.	rs397516502	81/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.493)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Met3723Ile,ENST00000542537,;RYR2,missense_variant,p.Met3739Ile,ENST00000366574,;RYR2,missense_variant,p.Met3745Ile,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	11534	41	65	SUCCESS
WDR64	128025	.	GRCh37	1	241958512	241958512	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs201917329	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	21	114	0	ENST00000366552.2:c.2971C>T	p.Arg991Ter	p.R991*	ENST00000366552	NM_144625.4	991	Cga/Tga	0	T:0.0002	T:0	.	T:0.0043	.	T	R/*	protein_coding	YES	.	2971	RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCGAAGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138	T:0	T:0.0002	ENSP00000355510	T:0	25/27	.	.	.	.	.	.	.	.	rs201917329,COSM1232635,COSM1232636	25/27	common_in_exac	ENST00000366552	Transcript	.	T:0.0006	ENSG00000162843	26570	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	T:0	.	0,1,1	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,stop_gained,p.Arg824Ter,ENST00000437684,;WDR64,stop_gained,p.Arg991Ter,ENST00000366552,;WDR64,stop_gained,p.Arg595Ter,ENST00000414635,;WDR64,stop_gained,p.Arg470Ter,ENST00000425826,;WDR64,synonymous_variant,p.%3D,ENST00000472717,;WDR64,3_prime_UTR_variant,,ENST00000468967,;	3178	114	144	SUCCESS
OR2W3	343171	.	GRCh37	1	248059059	248059059	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	42	124	0	ENST00000360358.3:c.171C>A	p.Thr57=	p.T57=	ENST00000360358	NM_001001957.2	57	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31099.1	171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCCCCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF223,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000445853	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000537741	Transcript	.	.	ENSG00000238243	15021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2W3_HUMAN	OR2W3	HGNC	.	.	UPI0000061EA8	SNV	OR2W3,synonymous_variant,p.%3D,ENST00000537741,;OR2W3,synonymous_variant,p.%3D,ENST00000360358,;	428	124	150	SUCCESS
ACTRT2	140625	.	GRCh37	1	2938855	2938855	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs759983396	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	20	298	0	ENST00000378404.2:c.605A>C	p.His202Pro	p.H202P	ENST00000378404	NM_080431.4	202	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS45.1	605	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCACACCT	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000367658	.	1/1	.	.	.	.	.	.	.	.	rs759983396	1/1	PASS	ENST00000378404	Transcript	.	.	ENSG00000169717	24026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.09)	.	ACTT2_HUMAN	ACTRT2	HGNC	.	.	UPI0000070494	SNV	ACTRT2,missense_variant,p.His202Pro,ENST00000378404,;	810	298	143	SUCCESS
CCDC27	148870	.	GRCh37	1	3669193	3669193	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	19	169	0	ENST00000294600.2:c.148G>A	p.Ala50Thr	p.A50T	ENST00000294600	NM_152492.2	50	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS50.1	148	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGCCAGC	NONE	.	.	hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6	.	.	ENSP00000294600	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000294600	Transcript	.	.	ENSG00000162592	26546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.37)	.	CCD27_HUMAN	CCDC27	HGNC	.	.	UPI000013E186	SNV	CCDC27,missense_variant,p.Ala50Thr,ENST00000294600,;CCDC27,missense_variant,p.Ala50Thr,ENST00000462521,;	232	169	108	SUCCESS
CCDC23	0	.	GRCh37	1	43273173	43273173	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	53	0	ENST00000372521.4:c.115-2A>C		p.X39_splice	ENST00000372521	NM_199342.3	39		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS474.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTGAATG	NONE	.	.	.	.	.	ENSP00000361599	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372521	Transcript	.	.	ENSG00000177868	29204	.	.	HIGH	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD23_HUMAN	CCDC23	HGNC	.	.	UPI000006CFBA	SNV	CCDC23,splice_acceptor_variant,,ENST00000372522,;CCDC23,splice_acceptor_variant,,ENST00000537227,;CCDC23,splice_acceptor_variant,,ENST00000372521,;	.	53	24	SUCCESS
AJAP1	55966	.	GRCh37	1	4772364	4772364	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	125	0	ENST00000378190.3:c.434C>A	p.Ala145Asp	p.A145D	ENST00000378190	NM_001042478.1	145	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS54.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCCCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32422	.	.	ENSP00000367433	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	tolerated(0.08)	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,missense_variant,p.Ala145Asp,ENST00000378191,;AJAP1,missense_variant,p.Ala145Asp,ENST00000378190,;AJAP1,downstream_gene_variant,,ENST00000466761,;	815	125	59	SUCCESS
BEND5	79656	.	GRCh37	1	49224725	49224725	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201098567	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	59	0	ENST00000371833.3:c.592C>T	p.Arg198Cys	p.R198C	ENST00000371833	NM_024603.2	198	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS552.2	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGCATCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14628	.	A:0.0001	ENSP00000360899	.	3/6	.	.	.	.	.	.	.	.	rs201098567,COSM168277	3/6	PASS	ENST00000371833	Transcript	.	.	ENSG00000162373	25668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.719)	.	deleterious(0)	0,1	BEND5_HUMAN	BEND5	HGNC	.	.	UPI00002042F4	SNV	BEND5,missense_variant,p.Arg198Cys,ENST00000371833,;AGBL4,intron_variant,,ENST00000371839,;AGBL4,intron_variant,,ENST00000416121,;AGBL4,intron_variant,,ENST00000371838,;BEND5,non_coding_transcript_exon_variant,,ENST00000476096,;BEND5,downstream_gene_variant,,ENST00000480399,;BEND5,upstream_gene_variant,,ENST00000476079,;BEND5,non_coding_transcript_exon_variant,,ENST00000463562,;BEND5,downstream_gene_variant,,ENST00000489956,;	679	59	36	SUCCESS
SLC1A7	6512	.	GRCh37	1	53571448	53571448	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs756665743	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	137	0	ENST00000371494.4:c.432-2A>G		p.X144_splice	ENST00000371494	NM_006671.4	144		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS574.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTAGGAA	NONE	byFrequency	.	.	.	.	ENSP00000360549	.	.	.	.	.	.	.	.	.	.	rs756665743	.	PASS	ENST00000371494	Transcript	.	.	ENSG00000162383	10945	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAA5_HUMAN	SLC1A7	HGNC	F1T0D2_HUMAN	.	UPI000013DED8	SNV	SLC1A7,splice_acceptor_variant,,ENST00000371494,;SLC1A7,downstream_gene_variant,,ENST00000371491,;	.	137	79	SUCCESS
SGIP1	84251	.	GRCh37	1	67148034	67148034	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1557608913	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	38	174	0	ENST00000371037.4:c.1297G>A	p.Gly433Ser	p.G433S	ENST00000371037	NM_032291.2	433	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS30744.1	1297	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGTCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23065:SF5,hmmpanther:PTHR23065	.	.	ENSP00000360076	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000371037	Transcript	.	.	ENSG00000118473	25412	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	tolerated(0.32)	.	SGIP1_HUMAN	SGIP1	HGNC	.	.	UPI000045891B	SNV	SGIP1,missense_variant,p.Gly437Ser,ENST00000237247,;SGIP1,missense_variant,p.Gly433Ser,ENST00000371037,;SGIP1,intron_variant,,ENST00000371039,;SGIP1,intron_variant,,ENST00000371036,;SGIP1,intron_variant,,ENST00000371035,;SGIP1,downstream_gene_variant,,ENST00000424320,;SGIP1,non_coding_transcript_exon_variant,,ENST00000487507,;SGIP1,intron_variant,,ENST00000480548,;	1374	174	176	SUCCESS
LRRC7	57554	.	GRCh37	1	70541910	70541910	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199872098	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	76	167	1	ENST00000035383.5:c.4267C>T	p.Arg1423Trp	p.R1423W	ENST00000035383	NM_020794.2	1423	Cgg/Tgg	0	.	T:0	.	T:0.0014	.	T	R/W	protein_coding	YES	CCDS645.1	4267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCGGGGA	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000035383	T:0	22/25	.	.	.	.	.	.	.	.	rs199872098	22/25	PASS	ENST00000035383	Transcript	.	T:0.0002	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	T:0	deleterious(0.01)	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Arg707Trp,ENST00000415775,;LRRC7,missense_variant,p.Arg1423Trp,ENST00000035383,;LRRC7,missense_variant,p.Arg1381Trp,ENST00000310961,;	4297	168	195	SUCCESS
COL24A1	255631	.	GRCh37	1	86591328	86591328	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	55	0	ENST00000370571.2:c.691T>C	p.Ser231Pro	p.S231P	ENST00000370571	NM_152890.5	231	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS41353.1	691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGATGCTT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,Superfamily_domains:SSF49899	.	.	ENSP00000359603	.	3/60	.	.	.	.	.	.	.	.	.	3/60	PASS	ENST00000370571	Transcript	.	.	ENSG00000171502	20821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.02)	.	COOA1_HUMAN	COL24A1	HGNC	E9PNK8_HUMAN	.	UPI000013E81F	SNV	COL24A1,missense_variant,p.Ser231Pro,ENST00000436319,;COL24A1,missense_variant,p.Ser231Pro,ENST00000370571,;COL24A1,downstream_gene_variant,,ENST00000496682,;COL24A1,missense_variant,p.Ser231Pro,ENST00000426639,;	1058	55	50	SUCCESS
APMAP	57136	.	GRCh37	20	24944625	24944625	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	159	0	ENST00000217456.2:c.1075C>T	p.Pro359Ser	p.P359S	ENST00000217456	NM_020531.2	359	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS13166.1	1075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGGCACAA	NONE	.	.	hmmpanther:PTHR10426:SF26,hmmpanther:PTHR10426,Gene3D:2.120.10.30	.	.	ENSP00000217456	.	9/9	.	.	.	.	.	.	.	.	COSM243351	9/9	PASS	ENST00000217456	Transcript	.	.	ENSG00000101474	13238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.129)	.	tolerated(0.11)	1	APMAP_HUMAN	APMAP	HGNC	.	.	UPI0000036D2D	SNV	APMAP,missense_variant,p.Pro359Ser,ENST00000217456,;APMAP,missense_variant,p.Pro352Ser,ENST00000451442,;APMAP,3_prime_UTR_variant,,ENST00000447138,;CST7,downstream_gene_variant,,ENST00000376835,;CST7,downstream_gene_variant,,ENST00000480798,;	1366	159	95	SUCCESS
ACSS1	84532	.	GRCh37	20	25028776	25028776	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs113598729	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	88	0	ENST00000323482.4:c.376G>A	p.Val126Ile	p.V126I	ENST00000323482	NM_001252675.1	126	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS13167.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAACGCTCT	NONE	byCluster	.	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF110,Pfam_domain:PF00501,Gene3D:3.40.50.980,TIGRFAM_domain:TIGR02188,Superfamily_domains:SSF56801	.	.	ENSP00000316924	.	2/14	.	.	.	.	.	.	.	.	rs113598729	2/14	PASS	ENST00000323482	Transcript	.	.	ENSG00000154930	16091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.22)	.	ACS2L_HUMAN	ACSS1	HGNC	Q658R1_HUMAN	.	UPI00001615FE	SNV	ACSS1,missense_variant,p.Val126Ile,ENST00000376726,;ACSS1,missense_variant,p.Val126Ile,ENST00000432802,;ACSS1,missense_variant,p.Val126Ile,ENST00000323482,;	456	88	47	SUCCESS
FAM83D	81610	.	GRCh37	20	37576553	37576553	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	76	0	ENST00000217429.4:c.776A>G	p.Tyr259Cys	p.Y259C	ENST00000217429	NM_030919.2	259	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS42872.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTACTATG	NONE	.	.	hmmpanther:PTHR16181:SF7,hmmpanther:PTHR16181,Gene3D:3.30.870.10,Pfam_domain:PF07894,Superfamily_domains:SSF56024	.	.	ENSP00000217429	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000217429	Transcript	.	.	ENSG00000101447	16122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FA83D_HUMAN	FAM83D	HGNC	.	.	UPI00004708E6	SNV	FAM83D,missense_variant,p.Tyr259Cys,ENST00000217429,;	817	76	82	SUCCESS
PTPRT	11122	.	GRCh37	20	40979351	40979351	+	synonymous_variant	Silent	SNP	G	G	A	rs377291418	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	33	0	ENST00000373198.4:c.1782C>T	p.Tyr594=	p.Y594=	ENST00000373198	NM_133170.3	594	taC/taT	0	A:0.0002	.	.	.	.	A	Y	protein_coding	YES	CCDS42874.1	1782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCGTACTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	A:0	ENSP00000362283	.	11/31	.	.	.	.	.	.	.	.	rs377291418,COSM1411870	11/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,synonymous_variant,p.%3D,ENST00000373201,;PTPRT,synonymous_variant,p.%3D,ENST00000356100,;PTPRT,synonymous_variant,p.%3D,ENST00000373198,;PTPRT,synonymous_variant,p.%3D,ENST00000373193,;PTPRT,synonymous_variant,p.%3D,ENST00000373184,;PTPRT,synonymous_variant,p.%3D,ENST00000373190,;PTPRT,synonymous_variant,p.%3D,ENST00000373187,;	1782	33	47	SUCCESS
CDH22	64405	.	GRCh37	20	44815546	44815546	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	77	0	ENST00000372262.3:c.1464A>T	p.Arg488=	p.R488=	ENST00000372262		488	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13395.1	1464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATTCGGAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF88,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000361336	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000372262	Transcript	.	.	ENSG00000149654	13251	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD22_HUMAN	CDH22	HGNC	Q49AS4_HUMAN	.	UPI0000126DC0	SNV	CDH22,synonymous_variant,p.%3D,ENST00000372262,;CDH22,synonymous_variant,p.%3D,ENST00000537909,;	1865	77	63	SUCCESS
SRXN1	140809	.	GRCh37	20	629465	629465	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777286381	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	110	0	ENST00000381962.3:c.307G>A	p.Ala103Thr	p.A103T	ENST00000381962	NM_080725.2	103	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13005.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGCGTAGC	NONE	.	.	hmmpanther:PTHR21348,Pfam_domain:PF02195,Gene3D:3.90.1530.10,SMART_domains:SM00470,PIRSF_domain:PIRSF017267,Superfamily_domains:SSF110849	.	.	ENSP00000371388	.	2/2	.	.	.	.	.	.	.	.	rs777286381,COSM1029272	2/2	PASS	ENST00000381962	Transcript	.	.	ENSG00000271303	16132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.508)	.	tolerated(0.26)	0,1	SRXN1_HUMAN	SRXN1	HGNC	.	.	UPI000000DC3B	SNV	SRXN1,missense_variant,p.Ala103Thr,ENST00000381962,;RP5-850E9.3,3_prime_UTR_variant,,ENST00000488788,;	492	110	70	SUCCESS
GART	2618	.	GRCh37	21	34889352	34889352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	24	201	0	ENST00000381815.4:c.2051G>T	p.Gly684Val	p.G684V	ENST00000381815	NM_000819.4	684	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13627.1	2051	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCCACCA	NONE	.	.	HAMAP:MF_00741_B,hmmpanther:PTHR10520,hmmpanther:PTHR10520:SF10,Pfam_domain:PF02769,TIGRFAM_domain:TIGR00878,Gene3D:3.90.650.10,Superfamily_domains:SSF56042	.	.	ENSP00000371253	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000381831	Transcript	.	.	ENSG00000159131	4163	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	PUR2_HUMAN	GART	HGNC	Q71VH3_HUMAN,C9JZG2_HUMAN,C9JTV6_HUMAN,C9JKQ7_HUMAN,C9JBJ1_HUMAN,B4DJ93_HUMAN	.	UPI0000132A2A	SNV	GART,missense_variant,p.Gly684Val,ENST00000381831,;GART,missense_variant,p.Gly684Val,ENST00000381815,;GART,missense_variant,p.Gly236Val,ENST00000543717,;GART,missense_variant,p.Gly684Val,ENST00000381839,;GART,downstream_gene_variant,,ENST00000460305,;GART,3_prime_UTR_variant,,ENST00000424203,;BTF3P6,downstream_gene_variant,,ENST00000448054,;	2315	201	150	SUCCESS
DOPEY2	0	.	GRCh37	21	37612121	37612121	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs559929390	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	53	0	ENST00000399151.3:c.2935G>C	p.Ala979Pro	p.A979P	ENST00000399151	NM_005128.2	979	Gcc/Ccc	0	.	T:0.0008	.	T:0	.	C	A/P	protein_coding	YES	CCDS13643.1	2935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGCCCAG	NONE	by1000G	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	T:0	.	ENSP00000382104	T:0	18/37	.	.	.	.	.	.	.	.	rs559929390	18/37	PASS	ENST00000399151	Transcript	.	T:0.0002	ENSG00000142197	1291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	T:0	deleterious(0.01)	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,missense_variant,p.Ala979Pro,ENST00000399151,;	3020	53	32	SUCCESS
ELFN2	114794	.	GRCh37	22	37769363	37769363	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	9	120	0	ENST00000402918.2:c.2212A>T	p.Lys738Ter	p.K738*	ENST00000402918	NM_052906.3	738	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS33642.1	2212	MUTECT|MUSE|VARSCANS	.	ACGCTTGGAGC	NONE	.	.	hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367	.	.	ENSP00000385277	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000402918	Transcript	.	.	ENSG00000166897	29396	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPR29_HUMAN	ELFN2	HGNC	.	.	UPI000004E87D	SNV	ELFN2,stop_gained,p.Lys738Ter,ENST00000402918,;RP1-63G5.5,intron_variant,,ENST00000430883,;RP1-63G5.5,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000424973,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000451509,;	2998	120	92	SUCCESS
CBWD2	150472	.	GRCh37	2	114195388	114195388	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	230	2	ENST00000259199.4:c.-58C>T		p.*20*	ENST00000259199	NM_172003.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2116.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GGCTGCGGTAC	NONE	.	.	.	.	.	ENSP00000259199	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000259199	Transcript	.	.	ENSG00000136682	17907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBWD2_HUMAN	CBWD2	HGNC	.	.	UPI000007478B	SNV	CBWD2,5_prime_UTR_variant,,ENST00000416503,;CBWD2,5_prime_UTR_variant,,ENST00000433343,;CBWD2,5_prime_UTR_variant,,ENST00000259199,;RP11-480C16.1,downstream_gene_variant,,ENST00000608834,;CBWD2,5_prime_UTR_variant,,ENST00000358604,;CBWD2,upstream_gene_variant,,ENST00000490323,;CBWD2,upstream_gene_variant,,ENST00000456188,;CBWD2,upstream_gene_variant,,ENST00000492566,;CBWD2,upstream_gene_variant,,ENST00000463627,;	121	232	115	SUCCESS
TMEM177	80775	.	GRCh37	2	120438742	120438742	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	154	0	ENST00000272521.6:c.313G>A	p.Gly105Ser	p.G105S	ENST00000272521	NM_030577.2	105	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS2128.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGGCATC	NONE	.	.	hmmpanther:PTHR21824,hmmpanther:PTHR21824:SF1	.	.	ENSP00000402661	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000424086	Transcript	.	.	ENSG00000144120	28143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TM177_HUMAN	TMEM177	HGNC	C9J6F8_HUMAN	.	UPI000013D95F	SNV	TMEM177,missense_variant,p.Gly105Ser,ENST00000272521,;TMEM177,missense_variant,p.Gly105Ser,ENST00000401466,;TMEM177,missense_variant,p.Gly105Ser,ENST00000424086,;TMEM177,missense_variant,p.Gly105Ser,ENST00000445518,;TMEM177,intron_variant,,ENST00000409951,;TMEM177,intron_variant,,ENST00000496203,;	786	154	68	SUCCESS
TTN	7273	.	GRCh37	2	179615916	179615916	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	68	0	ENST00000591111.1:c.10360+1935T>G		p.*3454*	ENST00000591111				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59435.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTATCACTAGC	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser3737Arg,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	68	91	SUCCESS
BOLL	66037	.	GRCh37	2	198641827	198641827	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs577424738	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	278	84	475	0	ENST00000392296.4:c.232G>A	p.Val78Ile	p.V78I	ENST00000392296	NM_033030.5	78	Gtc/Atc	0	.	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS2324.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGACGAAAC	SITE|p.V78I|c.232G>A|4,SITE|p.V90I|c.268G>A|4	byFrequency|by1000G	.	PROSITE_profiles:PS50102,hmmpanther:PTHR11176,hmmpanther:PTHR11176:SF9,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	T:0.001	.	ENSP00000314792	T:0	4/11	.	.	.	.	.	.	.	.	rs577424738,COSM1404321,COSM1404320	4/11	PASS	ENST00000321801	Transcript	.	T:0.0010	ENSG00000152430	14273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.009)	T:0.0041	tolerated(0.51)	0,1,1	BOLL_HUMAN	BOLL	HGNC	.	.	UPI00001D69F3	SNV	BOLL,missense_variant,p.Val78Ile,ENST00000392296,;BOLL,missense_variant,p.Val78Ile,ENST00000430004,;BOLL,missense_variant,p.Val78Ile,ENST00000433157,;BOLL,missense_variant,p.Val90Ile,ENST00000321801,;BOLL,intron_variant,,ENST00000282278,;AC011997.1,downstream_gene_variant,,ENST00000409845,;BOLL,intron_variant,,ENST00000434976,;	839	475	362	SUCCESS
CASP10	843	.	GRCh37	2	202074072	202074072	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	83	0	ENST00000272879.5:c.1202del	p.Cys401SerfsTer17	p.C401Sfs*17	ENST00000272879	NM_032974.4	401	tGc/tc	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS2340.1	1202	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCCTGCCAAG	NONE	.	.	PROSITE_profiles:PS50208,hmmpanther:PTHR10454,PROSITE_patterns:PS01122,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376	.	.	ENSP00000286186	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000286186	Transcript	.	.	ENSG00000003400	1500	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASPA_HUMAN	CASP10	HGNC	.	.	UPI0000074732	deletion	CASP10,frameshift_variant,p.Cys334SerfsTer17,ENST00000313728,;CASP10,frameshift_variant,p.Cys401SerfsTer17,ENST00000286186,;CASP10,frameshift_variant,p.Cys358SerfsTer17,ENST00000346817,;CASP10,frameshift_variant,p.Cys401SerfsTer17,ENST00000272879,;CASP10,frameshift_variant,p.Cys358SerfsTer17,ENST00000448480,;CASP10,3_prime_UTR_variant,,ENST00000360132,;CASP10,non_coding_transcript_exon_variant,,ENST00000492363,;CASP10,downstream_gene_variant,,ENST00000438843,;CASP10,downstream_gene_variant,,ENST00000460140,;MTND5P25,downstream_gene_variant,,ENST00000430499,;MTND4P23,downstream_gene_variant,,ENST00000447723,;	1637	83	77	SUCCESS
SGPP2	130367	.	GRCh37	2	223339386	223339386	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	113	0	ENST00000321276.7:c.319C>T	p.Pro107Ser	p.P107S	ENST00000321276	NM_152386.2	107	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2453.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCCATTC	NONE	.	.	hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969,Gene3D:1.20.144.10,Superfamily_domains:SSF48317	.	.	ENSP00000315137	.	2/5	.	.	.	.	.	.	.	.	COSM3578203	2/5	PASS	ENST00000321276	Transcript	.	.	ENSG00000163082	19953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SGPP2_HUMAN	SGPP2	HGNC	Q53QF5_HUMAN,Q4ZFX2_HUMAN,Q3B870_HUMAN	.	UPI000004A1E3	SNV	SGPP2,missense_variant,p.Pro107Ser,ENST00000321276,;	405	113	75	SUCCESS
ALK	238	.	GRCh37	2	29551301	29551301	+	synonymous_variant	Silent	SNP	A	A	G	rs1573239309	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	19	161	0	ENST00000389048.3:c.1329T>C	p.Cys443=	p.C443=	ENST00000389048	NM_004304.4	443	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS33172.1	1329	MUTECT|MUSE|VARSCANS	.	TTCCAACAAGT	NONE	.	.	Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000373700	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,synonymous_variant,p.%3D,ENST00000389048,;ALK,intron_variant,,ENST00000431873,;	2236	161	203	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43953414	43953414	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	34	159	0	ENST00000282406.4:c.2545C>T	p.Pro849Ser	p.P849S	ENST00000282406	NM_172069.3	849	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS1812.1	2545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCCTTTA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000282406	.	17/30	.	.	.	.	.	.	.	.	.	17/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	deleterious(0.01)	.	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Pro849Ser,ENST00000282406,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;	2655	159	174	SUCCESS
CCT4	10575	.	GRCh37	2	62115703	62115703	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	49	0	ENST00000394440.3:c.-61C>T		p.*21*	ENST00000394440	NM_006430.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33206.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGGCCGCA	NONE	.	.	.	.	.	ENSP00000377958	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000394440	Transcript	.	.	ENSG00000115484	1617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPD_HUMAN	CCT4	HGNC	B7Z9L0_HUMAN,B7Z2F4_HUMAN	.	UPI00000362DF	SNV	CCT4,5_prime_UTR_variant,,ENST00000394440,;CCT4,5_prime_UTR_variant,,ENST00000538252,;CCT4,5_prime_UTR_variant,,ENST00000544079,;CCT4,upstream_gene_variant,,ENST00000544185,;AC107081.5,downstream_gene_variant,,ENST00000425779,;COMMD1,upstream_gene_variant,,ENST00000472729,;CCT4,upstream_gene_variant,,ENST00000461370,;	237	49	56	SUCCESS
DQX1	165545	.	GRCh37	2	74752293	74752293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1183641826	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	6	139	0	ENST00000393951.2:c.274G>A	p.Gly92Arg	p.G92R	ENST00000393951		92	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1949.2	274	MUTECT|MUSE	.	GAACCCTCTGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934,PROSITE_profiles:PS51192	.	.	ENSP00000384621	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000404568	Transcript	.	.	ENSG00000144045	20410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.82)	.	DQX1_HUMAN	DQX1	HGNC	C9J0W1_HUMAN	.	UPI0000208758	SNV	DQX1,missense_variant,p.Gly92Arg,ENST00000404568,;DQX1,missense_variant,p.Gly92Arg,ENST00000393951,;DQX1,5_prime_UTR_variant,,ENST00000451518,;HTRA2,upstream_gene_variant,,ENST00000352222,;HTRA2,upstream_gene_variant,,ENST00000258080,;HTRA2,upstream_gene_variant,,ENST00000437202,;AUP1,downstream_gene_variant,,ENST00000377526,;DQX1,intron_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;HTRA2,upstream_gene_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000495597,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;AUP1,downstream_gene_variant,,ENST00000463900,;AUP1,downstream_gene_variant,,ENST00000486234,;DQX1,upstream_gene_variant,,ENST00000483555,;AUP1,downstream_gene_variant,,ENST00000462297,;DQX1,upstream_gene_variant,,ENST00000418139,;AUP1,downstream_gene_variant,,ENST00000464887,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000472800,;	494	139	125	SUCCESS
IGKV1D-17	28900	.	GRCh37	2	90121881	90121881	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781161404	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	14	223	0	ENST00000483379.1:c.99G>A	p.Met33Ile	p.M33I	ENST00000483379		33	atG/atA	0	.	.	.	.	.	A	M/I	IG_V_gene	YES	.	99	MUTECT|MUSE	.	GCCATGTCTGC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000418292	.	2/2	.	.	.	.	.	.	.	.	rs781161404	2/2	PASS	ENST00000483379	Transcript	.	.	ENSG00000242766	5749	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious(0.02)	.	.	IGKV1D-17	HGNC	.	.	UPI0000176CBA	SNV	IGKV1D-17,missense_variant,p.Met33Ile,ENST00000483379,;	280	223	279	SUCCESS
TRIM43	129868	.	GRCh37	2	96260826	96260826	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	15	276	0	ENST00000272395.2:c.440T>A	p.Leu147Ter	p.L147*	ENST00000272395	NM_138800.1	147	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS2015.1	440	MUTECT|MUSE	.	GATTTTATGGA	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276,Superfamily_domains:SSF57845	.	.	ENSP00000272395	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000272395	Transcript	.	.	ENSG00000144015	19015	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI43_HUMAN	TRIM43	HGNC	.	.	UPI000006E7BB	SNV	TRIM43,stop_gained,p.Leu147Ter,ENST00000272395,;AC009237.13,upstream_gene_variant,,ENST00000441078,;	576	276	218	SUCCESS
TIMMDC1	51300	.	GRCh37	3	119217580	119217580	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	54	0	ENST00000494664.1:c.-1C>A		p.*1*	ENST00000494664	NM_016589.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33831.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCATGGA	NONE	.	.	.	.	.	ENSP00000418803	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000494664	Transcript	.	.	ENSG00000113845	1321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIDC1_HUMAN	TIMMDC1	HGNC	.	.	UPI0000037B46	SNV	TIMMDC1,5_prime_UTR_variant,,ENST00000493694,;TIMMDC1,5_prime_UTR_variant,,ENST00000466984,;TIMMDC1,5_prime_UTR_variant,,ENST00000494664,;POGLUT1,downstream_gene_variant,,ENST00000295588,;RP11-190C22.8,upstream_gene_variant,,ENST00000609598,;TIMMDC1,5_prime_UTR_variant,,ENST00000463927,;TIMMDC1,5_prime_UTR_variant,,ENST00000264244,;TIMMDC1,5_prime_UTR_variant,,ENST00000486418,;TIMMDC1,5_prime_UTR_variant,,ENST00000492164,;TIMMDC1,upstream_gene_variant,,ENST00000469324,;TIMMDC1,upstream_gene_variant,,ENST00000498399,;	202	54	28	SUCCESS
GRIP2	80852	.	GRCh37	3	14545145	14545145	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	289	0	ENST00000273083.3:n.2673T>C		p.*891*	ENST00000273083				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCAGAAGC	NONE	.	.	.	.	.	.	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000430219,;GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,downstream_gene_variant,,ENST00000383795,;	2673	289	130	SUCCESS
ABCC5	10057	.	GRCh37	3	183643410	183643410	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	96	0	ENST00000334444.6:c.4145T>C	p.Leu1382Pro	p.L1382P	ENST00000334444	NM_005688.2	1382	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS43176.1	4145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCAGCATG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000333926	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000334444	Transcript	.	.	ENSG00000114770	56	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	MRP5_HUMAN	ABCC5	HGNC	C9JZL5_HUMAN	.	UPI000004A33C	SNV	ABCC5,missense_variant,p.Leu1339Pro,ENST00000265586,;ABCC5,missense_variant,p.Leu1382Pro,ENST00000334444,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;ABCC5,downstream_gene_variant,,ENST00000443497,;	4386	96	59	SUCCESS
ACAP2	23527	.	GRCh37	3	195063318	195063318	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761386232	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	129	0	ENST00000326793.6:c.410C>T	p.Ala137Val	p.A137V	ENST00000326793	NM_012287.5	137	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33924.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACGCATTT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657	.	.	ENSP00000324287	.	6/23	.	.	.	.	.	.	.	.	rs761386232	6/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	deleterious(0.04)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.Ala91Val,ENST00000423531,;ACAP2,missense_variant,p.Ala8Val,ENST00000439758,;ACAP2,missense_variant,p.Ala137Val,ENST00000326793,;ACAP2,downstream_gene_variant,,ENST00000481463,;ACAP2,non_coding_transcript_exon_variant,,ENST00000480906,;	641	130	91	SUCCESS
ARPP21	10777	.	GRCh37	3	35778748	35778748	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs566433210	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	7	163	0	ENST00000187397.4:c.1538T>C	p.Met513Thr	p.M513T	ENST00000187397	NM_016300.4	513	aTg/aCg	0	.	C:0	.	C:0	.	C	M/T	protein_coding	YES	CCDS58823.1	1436	MUTECT|MUSE	.	CGCCATGGTGG	BUFFER|p.R510Q|c.1529G>A|4,BUFFER|p.R476Q|c.1427G>A|3	byFrequency|by1000G	.	hmmpanther:PTHR15672:SF14,hmmpanther:PTHR15672	C:0	.	ENSP00000414351	C:0	15/20	.	.	.	.	.	.	.	.	rs566433210	15/20	PASS	ENST00000458225	Transcript	.	C:0.0004	ENSG00000172995	16968	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	C:0.002	tolerated(0.16)	.	ARP21_HUMAN	ARPP21	HGNC	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN	.	UPI0000209B3D	SNV	ARPP21,missense_variant,p.Met459Thr,ENST00000337271,;ARPP21,missense_variant,p.Met479Thr,ENST00000458225,;ARPP21,missense_variant,p.Met513Thr,ENST00000187397,;ARPP21,missense_variant,p.Met479Thr,ENST00000417925,;ARPP21,missense_variant,p.Met459Thr,ENST00000444190,;ARPP21,upstream_gene_variant,,ENST00000462173,;ARPP21,synonymous_variant,p.%3D,ENST00000457165,;ARPP21,downstream_gene_variant,,ENST00000427590,;	1661	163	113	SUCCESS
C3orf35	339883	.	GRCh37	3	37476620	37476620	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	rs774538380	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	71	0	ENST00000328376.5:c.512A>G	p.Ter171TrpextTer36	p.*171Wext*36	ENST00000328376	NM_178339.2	171	tAg/tGg	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS43065.1	512	RADIA|MUTECT|MUSE|VARSCANS	.	GGGATAGAAAT	NONE	byFrequency	.	.	.	.	ENSP00000331625	.	6/6	.	.	.	.	.	.	.	.	rs774538380	6/6	PASS	ENST00000328376	Transcript	.	.	ENSG00000198590	24082	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APRG1_HUMAN	C3orf35	HGNC	.	.	UPI0000199616	SNV	C3orf35,stop_lost,p.Ter171TrpextTer36,ENST00000328376,;C3orf35,non_coding_transcript_exon_variant,,ENST00000466204,;C3orf35,non_coding_transcript_exon_variant,,ENST00000481400,;C3orf35,3_prime_UTR_variant,,ENST00000332506,;	1491	71	46	SUCCESS
ACAA1	30	.	GRCh37	3	38178099	38178099	+	synonymous_variant	Silent	SNP	C	C	T	rs952749430	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	226	0	ENST00000333167.8:c.249G>A	p.Leu83=	p.L83=	ENST00000333167	NM_001607.3	83	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2673.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCAGCTG	NONE	.	.	Superfamily_domains:SSF53901,PIRSF_domain:PIRSF000429,Gene3D:3.40.47.10,Pfam_domain:PF00108,TIGRFAM_domain:TIGR01930,hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF64	.	.	ENSP00000333664	.	2/12	.	.	.	.	.	.	.	.	rs11552535	2/12	PASS	ENST00000333167	Transcript	.	.	ENSG00000060971	82	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THIK_HUMAN	ACAA1	HGNC	Q8NCW8_HUMAN	.	UPI0000136E35	SNV	ACAA1,synonymous_variant,p.%3D,ENST00000333167,;ACAA1,synonymous_variant,p.%3D,ENST00000421218,;ACAA1,synonymous_variant,p.%3D,ENST00000444607,;ACAA1,synonymous_variant,p.%3D,ENST00000450296,;ACAA1,synonymous_variant,p.%3D,ENST00000301810,;ACAA1,5_prime_UTR_variant,,ENST00000544624,;ACAA1,upstream_gene_variant,,ENST00000452171,;MYD88,upstream_gene_variant,,ENST00000443433,;MYD88,upstream_gene_variant,,ENST00000396334,;MYD88,upstream_gene_variant,,ENST00000417037,;MYD88,upstream_gene_variant,,ENST00000424893,;MYD88,upstream_gene_variant,,ENST00000421516,;MYD88,upstream_gene_variant,,ENST00000495303,;MYD88,upstream_gene_variant,,ENST00000463956,;ACAA1,upstream_gene_variant,,ENST00000480865,;MYD88,upstream_gene_variant,,ENST00000481122,;ACAA1,synonymous_variant,p.%3D,ENST00000411549,;ACAA1,synonymous_variant,p.%3D,ENST00000423611,;ACAA1,synonymous_variant,p.%3D,ENST00000418880,;ACAA1,synonymous_variant,p.%3D,ENST00000440176,;ACAA1,synonymous_variant,p.%3D,ENST00000447223,;ACAA1,non_coding_transcript_exon_variant,,ENST00000460424,;ACAA1,non_coding_transcript_exon_variant,,ENST00000489559,;ACAA1,non_coding_transcript_exon_variant,,ENST00000484284,;MYD88,upstream_gene_variant,,ENST00000460295,;MYD88,upstream_gene_variant,,ENST00000484513,;MYD88,upstream_gene_variant,,ENST00000416282,;ACAA1,upstream_gene_variant,,ENST00000465181,;ACAA1,upstream_gene_variant,,ENST00000469559,;	422	226	120	SUCCESS
KIF15	56992	.	GRCh37	3	44893334	44893334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	7	165	0	ENST00000326047.4:c.3862A>T	p.Thr1288Ser	p.T1288S	ENST00000326047	NM_020242.2	1288	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS33744.1	3862	MUTECT|MUSE	.	GAATGACTGAT	NONE	.	.	hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115	.	.	ENSP00000324020	.	33/35	.	.	.	.	.	.	.	.	.	33/35	PASS	ENST00000326047	Transcript	.	.	ENSG00000163808	17273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.21)	.	KIF15_HUMAN	KIF15	HGNC	D6RCT7_HUMAN	.	UPI000006DB0E	SNV	KIF15,missense_variant,p.Thr923Ser,ENST00000425755,;KIF15,missense_variant,p.Thr1288Ser,ENST00000326047,;KIF15,missense_variant,p.Thr94Ser,ENST00000422209,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,3_prime_UTR_variant,,ENST00000453693,;	4011	165	173	SUCCESS
BAP1	8314	.	GRCh37	3	52440899	52440899	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	27	122	0	ENST00000460680.1:c.605G>T	p.Trp202Leu	p.W202L	ENST00000460680	NM_004656.3	202	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS2853.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCACTCC	CODON|p.?|c.581-?_659+?del|6	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,missense_variant,p.Trp202Leu,ENST00000296288,;BAP1,missense_variant,p.Trp202Leu,ENST00000460680,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,downstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	1077	122	43	SUCCESS
FLNB	2317	.	GRCh37	3	57994371	57994371	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760976111	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	226	0	ENST00000295956.4:c.80A>G	p.Asn27Ser	p.N27S	ENST00000295956	NM_001457.3	27	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS54599.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAACGAGC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,PROSITE_patterns:PS00019,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000420213	.	1/47	.	.	.	.	.	.	.	.	rs760976111	1/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Asn27Ser,ENST00000429972,;FLNB,missense_variant,p.Asn27Ser,ENST00000295956,;FLNB,missense_variant,p.Asn27Ser,ENST00000348383,;FLNB,missense_variant,p.Asn27Ser,ENST00000358537,;FLNB,missense_variant,p.Asn27Ser,ENST00000490882,;FLNB,missense_variant,p.Asn27Ser,ENST00000357272,;	245	226	63	SUCCESS
ROBO2	6092	.	GRCh37	3	77623726	77623726	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1220003348	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	31	99	0	ENST00000461745.1:c.2048C>T	p.Ser683Leu	p.S683L	ENST00000461745	NM_002942.4	683	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS54609.1	2096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCGTGGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	15/27	.	.	.	.	.	.	.	.	COSM263402,COSM263403	15/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0)	.	tolerated(0.1)	1,1	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Ser683Leu,ENST00000332191,;ROBO2,missense_variant,p.Ser703Leu,ENST00000602589,;ROBO2,missense_variant,p.Ser683Leu,ENST00000461745,;ROBO2,missense_variant,p.Ser699Leu,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2375	99	147	SUCCESS
ROBO2	6092	.	GRCh37	3	77629133	77629133	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	58	0	ENST00000461745.1:c.2364C>G	p.Ile788Met	p.I788M	ENST00000461745	NM_002942.4	788	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS54609.1	2412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCAACAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.639)	.	deleterious(0.03)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Ile788Met,ENST00000332191,;ROBO2,missense_variant,p.Ile808Met,ENST00000602589,;ROBO2,missense_variant,p.Ile788Met,ENST00000461745,;ROBO2,missense_variant,p.Ile804Met,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2691	58	81	SUCCESS
ROBO1	6091	.	GRCh37	3	78763622	78763622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	114	0	ENST00000464233.1:c.970G>T	p.Asp324Tyr	p.D324Y	ENST00000464233	NM_002941.3	324	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54611.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTCACCAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	.	.	ENSP00000420321	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Asp324Tyr,ENST00000464233,;ROBO1,missense_variant,p.Asp285Tyr,ENST00000495273,;ROBO1,missense_variant,p.Asp285Tyr,ENST00000436010,;ROBO1,missense_variant,p.Asp285Tyr,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000488735,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;	1084	114	95	SUCCESS
ANK2	287	.	GRCh37	4	114276315	114276315	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs552900652	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	14	74	0	ENST00000357077.4:c.6541G>C	p.Asp2181His	p.D2181H	ENST00000357077	NM_001148.4	2181	Gac/Cac	0	.	A:0.0008	.	A:0	.	C	D/H	protein_coding	YES	CCDS3702.1	6541	RADIA|MUTECT|MUSE|VARSCANS	.	CACTCGACTAC	NONE	by1000G	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	A:0	.	ENSP00000349588	A:0	38/46	.	.	.	.	.	.	.	.	rs552900652	38/46	PASS	ENST00000357077	Transcript	1	A:0.0002	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	A:0	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Asp2148His,ENST00000264366,;ANK2,missense_variant,p.Asp2181His,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	6594	74	123	SUCCESS
KIAA1109	84162	.	GRCh37	4	123122219	123122219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	94	0	ENST00000264501.4:c.1436G>T	p.Cys479Phe	p.C479F	ENST00000264501		479	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS43267.1	1436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGTGAAT	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	15/86	.	.	.	.	.	.	.	.	.	15/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Cys312Phe,ENST00000424425,;KIAA1109,missense_variant,p.Cys479Phe,ENST00000455637,;KIAA1109,missense_variant,p.Cys479Phe,ENST00000264501,;KIAA1109,missense_variant,p.Cys479Phe,ENST00000388738,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;	1809	94	64	SUCCESS
KIAA1109	84162	.	GRCh37	4	123165177	123165177	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	60	128	0	ENST00000264501.4:c.4911A>T	p.Leu1637Phe	p.L1637F	ENST00000264501		1637	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS43267.1	4911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTAGACAG	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	31/86	.	.	.	.	.	.	.	.	.	31/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Leu1637Phe,ENST00000455637,;KIAA1109,missense_variant,p.Leu210Phe,ENST00000446180,;KIAA1109,missense_variant,p.Leu1637Phe,ENST00000264501,;KIAA1109,missense_variant,p.Leu1637Phe,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000424425,;KIAA1109,downstream_gene_variant,,ENST00000495260,;KIAA1109,upstream_gene_variant,,ENST00000470182,;	5284	128	156	SUCCESS
PCDH18	54510	.	GRCh37	4	138451498	138451498	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200753356	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	51	1	ENST00000344876.4:c.1745G>A	p.Arg582His	p.R582H	ENST00000344876	NM_019035.3	582	cGt/cAt	0	T:0	T:0	.	T:0.0029	.	T	R/H	protein_coding	YES	CCDS34064.1	1745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTACGCAAT	SITE|p.R582H|c.1745G>A|3,BUFFER|p.T585M|c.1754C>T|3,BUFFER|p.R582C|c.1744C>T|4	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	T:0	T:0.0001	ENSP00000355082	T:0	1/4	.	.	.	.	.	.	.	.	rs200753356,COSM84869	1/4	PASS	ENST00000344876	Transcript	.	T:0.0008	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	T:0.002	tolerated(0.58)	0,1	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Arg582His,ENST00000344876,;PCDH18,missense_variant,p.Arg362His,ENST00000507846,;PCDH18,missense_variant,p.Arg582His,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	2132	52	65	SUCCESS
DCHS2	54798	.	GRCh37	4	155219388	155219388	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	62	173	0	ENST00000357232.4:c.4713A>G	p.Val1571=	p.V1571=	ENST00000357232	NM_017639.3	1571	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3785.1	4713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATATACTTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000357232,;	4713	173	160	SUCCESS
C4orf22	0	.	GRCh37	4	81256985	81256985	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	74	0	ENST00000508675.1:c.63A>C	p.Glu21Asp	p.E21D	ENST00000508675	NM_001206997.1	21	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS56336.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGAAGATTT	NONE	.	.	Pfam_domain:PF14713	.	.	ENSP00000425786	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000508675	Transcript	.	.	ENSG00000197826	28554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.683)	.	deleterious(0.04)	.	CD022_HUMAN	C4orf22	HGNC	.	.	UPI0000D61589	SNV	C4orf22,missense_variant,p.Glu21Asp,ENST00000508675,;C4orf22,missense_variant,p.Glu21Asp,ENST00000358105,;C4orf22,non_coding_transcript_exon_variant,,ENST00000512931,;C4orf22,non_coding_transcript_exon_variant,,ENST00000502497,;C4orf22,non_coding_transcript_exon_variant,,ENST00000503883,;C4orf22,missense_variant,p.Glu21Asp,ENST00000513920,;C4orf22,missense_variant,p.Glu21Asp,ENST00000514249,;FGF5,3_prime_UTR_variant,,ENST00000507780,;	63	74	31	SUCCESS
JADE2	23338	.	GRCh37	5	133873703	133873703	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	8	136	0	ENST00000395003.1:c.83C>A	p.Ser28Ter	p.S28*	ENST00000395003	NM_015288.4	28	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS4176.1	83	MUTECT|MUSE|VARSCANS	.	CGCATCAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84	.	.	ENSP00000378451	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000395003	Transcript	.	.	ENSG00000043143	22984	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JADE2_HUMAN	JADE2	HGNC	D6R9B8_HUMAN,C9J929_HUMAN	.	UPI00002331C9	SNV	JADE2,stop_gained,p.Ser28Ter,ENST00000395003,;JADE2,stop_gained,p.Ser28Ter,ENST00000282605,;JADE2,stop_gained,p.Ser28Ter,ENST00000402835,;JADE2,stop_gained,p.Ser28Ter,ENST00000512386,;JADE2,stop_gained,p.Ser28Ter,ENST00000361895,;JADE2,stop_gained,p.Ser28Ter,ENST00000431355,;JADE2,downstream_gene_variant,,ENST00000515554,;	262	136	102	SUCCESS
TRPC7	57113	.	GRCh37	5	135651385	135651385	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	78	0	ENST00000513104.1:c.863A>G	p.Glu288Gly	p.E288G	ENST00000513104	NM_020389.2	288	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS47267.2	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTTCCACC	NONE	.	.	TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.26)	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Glu288Gly,ENST00000502753,;TRPC7,missense_variant,p.Glu288Gly,ENST00000513104,;TRPC7,intron_variant,,ENST00000355180,;TRPC7,intron_variant,,ENST00000352189,;TRPC7,intron_variant,,ENST00000378459,;TRPC7,intron_variant,,ENST00000426057,;TRPC7-AS2,intron_variant,,ENST00000513958,;TRPC7,missense_variant,p.Glu288Gly,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	1146	78	94	SUCCESS
PCDHGB6	56100	.	GRCh37	5	140787868	140787868	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	176	0	ENST00000520790.1:c.99C>A	p.Ile33=	p.I33=	ENST00000520790	NM_018926.2	33	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54929.1	99	MUTECT|MUSE|VARSCANS	.	CCGATCCGCTA	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF66,hmmpanther:PTHR24028	.	.	ENSP00000428603	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000520790	Transcript	.	.	ENSG00000253305	8713	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDGI_HUMAN	PCDHGB6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EB47	SNV	PCDHGB6,synonymous_variant,p.%3D,ENST00000520790,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA10,upstream_gene_variant,,ENST00000398610,;	99	176	78	SUCCESS
SCGB3A2	117156	.	GRCh37	5	147258363	147258363	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	54	0	ENST00000296694.4:c.-4T>G		p.*2*	ENST00000296694	NM_054023.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4287.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATAACTGTCAT	NONE	.	.	.	.	.	ENSP00000296694	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000296694	Transcript	.	.	ENSG00000164265	18391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SG3A2_HUMAN	SCGB3A2	HGNC	Q2L6B3_HUMAN,D6RBX5_HUMAN	.	UPI0000001278	SNV	SCGB3A2,5_prime_UTR_variant,,ENST00000296694,;SCGB3A2,intron_variant,,ENST00000504320,;SCGB3A2,intron_variant,,ENST00000514688,;SCGB3A2,intron_variant,,ENST00000507160,;C5orf46,downstream_gene_variant,,ENST00000510432,;	90	54	66	SUCCESS
EBF1	1879	.	GRCh37	5	158140067	158140067	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	29	108	0	ENST00000313708.6:c.1280C>G	p.Thr427Ser	p.T427S	ENST00000313708	NM_024007.3	427	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS4343.1	1280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGTGTTA	BUFFER|p.H430H|c.1290C>T|3	.	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.96)	.	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,missense_variant,p.Thr396Ser,ENST00000380654,;EBF1,missense_variant,p.Thr427Ser,ENST00000313708,;EBF1,missense_variant,p.Thr419Ser,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;	1563	108	123	SUCCESS
TTC1	7265	.	GRCh37	5	159437674	159437674	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	18	146	0	ENST00000231238.5:c.139A>T	p.Arg47Trp	p.R47W	ENST00000231238	NM_003314.1	47	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4348.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCAGGGAT	NONE	.	.	hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF321	.	.	ENSP00000231238	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000231238	Transcript	.	.	ENSG00000113312	12391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	deleterious_low_confidence(0)	.	TTC1_HUMAN	TTC1	HGNC	.	.	UPI0000030D6C	SNV	TTC1,missense_variant,p.Arg47Trp,ENST00000522793,;TTC1,missense_variant,p.Arg47Trp,ENST00000231238,;Y_RNA,downstream_gene_variant,,ENST00000362528,;	249	146	105	SUCCESS
CARD6	84674	.	GRCh37	5	40853355	40853355	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	94	0	ENST00000254691.5:c.1921G>C	p.Val641Leu	p.V641L	ENST00000254691	NM_032587.3	641	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS3935.1	1921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTGTGTCT	NONE	.	.	hmmpanther:PTHR22797:SF26,hmmpanther:PTHR22797	.	.	ENSP00000254691	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254691	Transcript	.	.	ENSG00000132357	16394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.11)	.	CARD6_HUMAN	CARD6	HGNC	.	.	UPI000013CE50	SNV	CARD6,missense_variant,p.Val641Leu,ENST00000254691,;CARD6,intron_variant,,ENST00000381677,;	2120	94	70	SUCCESS
IL31RA	133396	.	GRCh37	5	55147432	55147432	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs775524600	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	65	0	ENST00000447346.2:c.34G>C	p.Ala12Pro	p.A12P	ENST00000447346	NM_001242636.1	12	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS3970.2	34	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGGCATGT	NONE	.	.	.	.	.	ENSP00000415900	.	1/15	.	.	.	.	.	.	.	.	rs775524600	1/15	PASS	ENST00000447346	Transcript	1	.	ENSG00000164509	18969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious_low_confidence(0.04)	.	IL31R_HUMAN	IL31RA	HGNC	.	.	UPI00001A41DC	SNV	IL31RA,missense_variant,p.Ala12Pro,ENST00000447346,;IL31RA,missense_variant,p.Ala12Pro,ENST00000359040,;IL31RA,missense_variant,p.Ala12Pro,ENST00000396836,;IL31RA,5_prime_UTR_variant,,ENST00000396834,;IL31RA,upstream_gene_variant,,ENST00000490985,;IL31RA,upstream_gene_variant,,ENST00000354961,;IL31RA,upstream_gene_variant,,ENST00000297015,;	99	65	64	SUCCESS
ERCC8	1161	.	GRCh37	5	60200668	60200668	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	9	262	0	ENST00000265038.5:c.432T>G	p.Val144=	p.V144=	ENST00000265038	NM_000082.3	144	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3978.1	432	MUTECT|MUSE	.	CTATAAACTGT	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22850,PROSITE_profiles:PS50294	.	.	ENSP00000265038	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000265038	Transcript	1	.	ENSG00000049167	3439	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERCC8_HUMAN	ERCC8	HGNC	G3XAG7_HUMAN,C9JNT2_HUMAN,B3KPW7_HUMAN	.	UPI000000D8F8	SNV	ERCC8,synonymous_variant,p.%3D,ENST00000265038,;ERCC8,synonymous_variant,p.%3D,ENST00000439176,;ERCC8,synonymous_variant,p.%3D,ENST00000426742,;ERCC8,intron_variant,,ENST00000543101,;ERCC8,non_coding_transcript_exon_variant,,ENST00000495985,;ERCC8,non_coding_transcript_exon_variant,,ENST00000462279,;ERCC8,intron_variant,,ENST00000484330,;ERCC8,3_prime_UTR_variant,,ENST00000381118,;ERCC8,non_coding_transcript_exon_variant,,ENST00000497892,;	475	262	201	SUCCESS
ANKRA2	57763	.	GRCh37	5	72857113	72857113	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	37	93	0	ENST00000296785.3:c.290C>G	p.Ala97Gly	p.A97G	ENST00000296785	NM_023039.4	97	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS4020.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGCTAAG	NONE	.	.	hmmpanther:PTHR24124:SF3,hmmpanther:PTHR24124	.	.	ENSP00000296785	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000296785	Transcript	.	.	ENSG00000164331	13208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.12)	.	ANRA2_HUMAN	ANKRA2	HGNC	.	.	UPI0000125B54	SNV	ANKRA2,missense_variant,p.Ala97Gly,ENST00000296785,;ANKRA2,intron_variant,,ENST00000504641,;UTP15,upstream_gene_variant,,ENST00000509005,;UTP15,upstream_gene_variant,,ENST00000508491,;UTP15,upstream_gene_variant,,ENST00000543251,;UTP15,upstream_gene_variant,,ENST00000513824,;UTP15,upstream_gene_variant,,ENST00000508686,;UTP15,upstream_gene_variant,,ENST00000296792,;ANKRA2,splice_region_variant,,ENST00000506130,;ANKRA2,splice_region_variant,,ENST00000515804,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000514916,;UTP15,upstream_gene_variant,,ENST00000510478,;ANKRA2,downstream_gene_variant,,ENST00000509433,;	949	93	93	SUCCESS
QRSL1	55278	.	GRCh37	6	107111016	107111016	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530501491	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	98	0	ENST00000369046.4:c.1322G>A	p.Arg441Gln	p.R441Q	ENST00000369046	NM_018292.4	441	cGa/cAa	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS5057.1	1322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGAAGTG	NONE	by1000G	.	HAMAP:MF_00120,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF7,TIGRFAM_domain:TIGR00132,Gene3D:3.90.1300.10,Pfam_domain:PF01425,Superfamily_domains:SSF75304	A:0	.	ENSP00000358042	A:0	10/11	.	.	.	.	.	.	.	.	rs530501491	10/11	PASS	ENST00000369046	Transcript	.	A:0.0002	ENSG00000130348	21020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	A:0.001	tolerated(0.58)	.	GATA_HUMAN	QRSL1	HGNC	.	.	UPI0000047463	SNV	QRSL1,missense_variant,p.Arg441Gln,ENST00000369046,;	1426	98	69	SUCCESS
WISP3	0	.	GRCh37	6	112382473	112382473	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782804251	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	102	0	ENST00000361714.1:c.382G>A	p.Glu128Lys	p.E128K	ENST00000361714		128	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5097.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACGAGACT	NONE	byFrequency	.	PROSITE_profiles:PS51323,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF3,SMART_domains:SM00121,PIRSF_domain:PIRSF036495,Superfamily_domains:SSF57184	.	.	ENSP00000354734	.	2/5	.	.	.	.	.	.	.	.	rs782804251	2/5	PASS	ENST00000361714	Transcript	.	.	ENSG00000112761	12771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	tolerated(0.2)	.	WISP3_HUMAN	WISP3	HGNC	Q3T1A9_HUMAN	.	UPI000021BFC1	SNV	WISP3,missense_variant,p.Glu128Lys,ENST00000361714,;WISP3,missense_variant,p.Glu88Lys,ENST00000368663,;WISP3,missense_variant,p.Glu110Lys,ENST00000368666,;WISP3,missense_variant,p.Glu110Lys,ENST00000230529,;WISP3,missense_variant,p.Glu110Lys,ENST00000604763,;WISP3,upstream_gene_variant,,ENST00000409166,;WISP3,missense_variant,p.Glu110Lys,ENST00000454589,;WISP3,missense_variant,p.Glu128Lys,ENST00000368664,;	427	102	107	SUCCESS
IPCEF1	26034	.	GRCh37	6	154481159	154481159	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	36	0	ENST00000265198.4:c.1118T>C	p.Leu373Pro	p.L373P	ENST00000265198	NM_015553.2	373	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS47509.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGATCA	NONE	.	.	hmmpanther:PTHR12844	.	.	ENSP00000394751	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000422970	Transcript	.	.	ENSG00000074706	21204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ICEF1_HUMAN	IPCEF1	HGNC	G3V132_HUMAN,E5RJQ7_HUMAN,E5RGN6_HUMAN,E5RGB6_HUMAN	.	UPI000022CD0D	SNV	IPCEF1,missense_variant,p.Leu345Pro,ENST00000519344,;IPCEF1,missense_variant,p.Leu373Pro,ENST00000265198,;IPCEF1,missense_variant,p.Leu374Pro,ENST00000422970,;IPCEF1,missense_variant,p.Leu374Pro,ENST00000367220,;OPRM1,intron_variant,,ENST00000337049,;IPCEF1,upstream_gene_variant,,ENST00000470622,;IPCEF1,non_coding_transcript_exon_variant,,ENST00000522590,;OPRM1,intron_variant,,ENST00000524150,;	1317	36	52	SUCCESS
TULP4	56995	.	GRCh37	6	158923744	158923744	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1355213958	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	55	0	ENST00000367097.3:c.3049G>A	p.Gly1017Ser	p.G1017S	ENST00000367097	NM_020245.4	1017	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS34561.1	3049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGGCGGG	NONE	.	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2	.	.	ENSP00000356064	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000367097	Transcript	.	.	ENSG00000130338	15530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.8)	.	TULP4_HUMAN	TULP4	HGNC	.	.	UPI000013CD76	SNV	TULP4,missense_variant,p.Gly1017Ser,ENST00000367097,;TULP4,intron_variant,,ENST00000367094,;	4406	55	32	SUCCESS
FNDC1	84624	.	GRCh37	6	159653615	159653615	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762244107	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	166	0	ENST00000297267.9:c.2071G>A	p.Ala691Thr	p.A691T	ENST00000297267	NM_032532.2	691	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47512.1	2071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGCAAAG	NONE	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	rs762244107	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(1)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Ala628Thr,ENST00000340366,;FNDC1,missense_variant,p.Ala691Thr,ENST00000297267,;FNDC1,missense_variant,p.Ala587Thr,ENST00000329629,;	2271	166	79	SUCCESS
LPA	4018	.	GRCh37	6	161016462	161016462	+	synonymous_variant	Silent	SNP	G	G	A	rs758509383	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	36	0	ENST00000316300.5:c.3393C>T	p.Cys1131=	p.C1131=	ENST00000316300		1131	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS43523.1	3393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGCATTG	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24261,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000395608	.	22/40	.	.	.	.	.	.	.	.	rs758509383	22/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,synonymous_variant,p.%3D,ENST00000316300,;LPA,synonymous_variant,p.%3D,ENST00000447678,;	3514	36	55	SUCCESS
HLA-B	3106	.	GRCh37	6	31324656	31324656	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs281864590	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	24	177	0	ENST00000412585.2:c.152A>G	p.Tyr51Cys	p.Y51C	ENST00000412585	NM_005514.6	51	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34394.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGTAGCCC	BUFFER|p.I47I|c.141C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF157,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452	.	.	ENSP00000399168	.	2/8	.	.	.	.	.	.	.	.	rs281864590	2/8	PASS	ENST00000412585	Transcript	.	.	ENSG00000234745	4932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	1B73_HUMAN,1B07_HUMAN,1B42_HUMAN,1B67_HUMAN,1B81_HUMAN,1B48_HUMAN	HLA-B	HGNC	T1R372_HUMAN,R4QQU0_HUMAN,N0A4A9_HUMAN,N0A0K3_HUMAN,M9XMA8_HUMAN,M9PAL2_HUMAN,M9P9U8_HUMAN,M9P9C4_HUMAN,M9P9A4_HUMAN,M9P990_HUMAN,M9P8G8_HUMAN,M1FXF1_HUMAN,M1FWX2_HUMAN,M1F4D0_HUMAN,E5FQ95_HUMAN,Q9UIP1_HUMAN,Q9TQC5_HUMAN,Q9TQC2_HUMAN,Q9TPU4_HUMAN,Q9GIM0_HUMAN,Q95IE1_HUMAN,Q95HL7_HUMAN,Q8SP64_HUMAN,Q8HWQ3_HUMAN,Q861E5_HUMAN,Q861D6_HUMAN,Q861D4_HUMAN,Q7YP17_HUMAN,Q7YNX2_HUMAN,Q7JGR7_HUMAN,Q710M8_HUMAN,Q710M7_HUMAN,Q70HJ6_HUMAN,Q709M5_HUMAN,Q6ZXT6_HUMAN,Q5QR88_HUMAN,Q5QR87_HUMAN,Q5QR86_HUMAN,Q5QR85_HUMAN,Q5QR84_HUMAN,Q5QR83_HUMAN,Q5QR76_HUMAN,Q5QR73_HUMAN,Q5QR69_HUMAN,Q5QR62_HUMAN,Q5QR60_HUMAN,Q5QR59_HUMAN,Q5QR58_HUMAN,Q5QR57_HUMAN,Q5QR48_HUMAN,Q5QR47_HUMAN,Q5QR46_HUMAN,Q5QR36_HUMAN,Q5QR34_HUMAN,Q5QR33_HUMAN,Q5QR31_HUMAN,Q5F311_HUMAN,Q53ZP0_HUMAN,Q29923_HUMAN,Q29843_HUMAN,Q256S0_HUMAN,O19782_HUMAN,O19746_HUMAN,O19644_HUMAN,O19638_HUMAN,O19563_HUMAN,L0RH50_HUMAN,L0BXM2_HUMAN,K9LCN4_HUMAN,K9L8E6_HUMAN,K7QT39_HUMAN,K7P5R9_HUMAN,K4JQY2_HUMAN,J9UP90_HUMAN,J9PWQ9_HUMAN,J9PW07_HUMAN,J7K017_HUMAN,J7F682_HUMAN,J7F577_HUMAN,I7A4E3_HUMAN,I6TRW4_HUMAN,I6RCX9_HUMAN,I6NXG0_HUMAN,I6NWI0_HUMAN,I6NVS4_HUMAN,I4EC43_HUMAN,I3VZ13_HUMAN,I3UI65_HUMAN,I3QHR8_HUMAN,I2B2Z4_HUMAN,I2B2W6_HUMAN,H9C5J4_HUMAN,H9BQ86_HUMAN,H9BQ83_HUMAN,H9BQ82_HUMAN,G9I2L1_HUMAN,G3D6I7_HUMAN,G1EPU3_HUMAN,G1EPN0_HUMAN,G1EPJ1_HUMAN,G1ENJ6_HUMAN,G1ENJ0_HUMAN,G1EMP0_HUMAN,G1EMK6_HUMAN,G0ZMJ0_HUMAN,G0ZMH5_HUMAN,G0Z8C9_HUMAN,G0WVB6_HUMAN,F8SKV9_HUMAN,F8RHF3_HUMAN,F6KRS1_HUMAN,F6KRR7_HUMAN,F6KRQ7_HUMAN,F4YU56_HUMAN,F4YTC4_HUMAN,F4NBP2_HUMAN,F4NBP0_HUMAN,F2X5W5_HUMAN,F2X5T3_HUMAN,F2VNN2_HUMAN,E9LY38_HUMAN,E7BYA5_HUMAN,E3SWI1_HUMAN,E3SWH9_HUMAN,E2GJN0_HUMAN,E2DH92_HUMAN,E2D5Q2_HUMAN,E2D5P9_HUMAN,E2D5N8_HUMAN,D9U3G7_HUMAN,D7NSR4_HUMAN,D5L9C9_HUMAN,D5FWA6_HUMAN,D5FI14_HUMAN,D5FHY1_HUMAN,D5FHV8_HUMAN,D5FHU6_HUMAN,D4HPL2_HUMAN,D4HPB9_HUMAN,D4HPB2_HUMAN,D4HP81_HUMAN,D3Y5Y4_HUMAN,D3U4B8_HUMAN,D2DL25_HUMAN,D2DKQ8_HUMAN,D2DKN8_HUMAN,D2DKN6_HUMAN,D2DKF7_HUMAN,D2DKF6_HUMAN,C9WEP9_HUMAN,C9WEN6_HUMAN,C9WD06_HUMAN,C9WCZ5_HUMAN,C9WCQ2_HUMAN,C9E1H2_HUMAN,C8CH80_HUMAN,C8CAX9_HUMAN,C7FDQ9_HUMAN,C6L830_HUMAN,C5JA70_HUMAN,C3VIU8_HUMAN,B9VWB1_HUMAN,B4DUK6_HUMAN,B2YG95_HUMAN,A7E1C3_HUMAN,A5PHP5_HUMAN,A2VC07_HUMAN	.	UPI0000000B17	SNV	HLA-B,missense_variant,p.Tyr51Cys,ENST00000412585,;HLA-B,missense_variant,p.Tyr62Cys,ENST00000434333,;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,;HLA-B,non_coding_transcript_exon_variant,,ENST00000474381,;HLA-B,upstream_gene_variant,,ENST00000481849,;HLA-B,upstream_gene_variant,,ENST00000463574,;HLA-B,upstream_gene_variant,,ENST00000497377,;XXbac-BPG248L24.12,non_coding_transcript_exon_variant,,ENST00000603274,;	181	177	101	SUCCESS
C6orf106	0	.	GRCh37	6	34622535	34622535	+	synonymous_variant	Silent	SNP	G	G	A	rs373019670	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	101	0	ENST00000374023.3:c.180C>T	p.Gly60=	p.G60=	ENST00000374023	NM_024294.2	60	ggC/ggT	0	A:0.0002	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS4796.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGCCAAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR20930,Gene3D:1.10.8.10,Pfam_domain:PF14555,Superfamily_domains:SSF46934	A:0.001	A:0	ENSP00000363135	A:0	2/5	.	.	.	.	.	.	.	.	rs373019670	2/5	PASS	ENST00000374023	Transcript	.	A:0.0002	ENSG00000196821	21215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CF106_HUMAN	C6orf106	HGNC	Q5TH58_HUMAN	.	UPI000006F934	SNV	C6orf106,synonymous_variant,p.%3D,ENST00000374026,;C6orf106,synonymous_variant,p.%3D,ENST00000374023,;C6orf106,5_prime_UTR_variant,,ENST00000374021,;	424	101	99	SUCCESS
CRISP2	7180	.	GRCh37	6	49667518	49667518	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	63	0	ENST00000339139.4:c.270C>G		p.X90_splice	ENST00000339139	NM_001261822.1	90	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4928.1	270	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGGTTTT	NONE	.	.	Superfamily_domains:SSF55797,SMART_domains:SM00198,Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF154	.	.	ENSP00000339155	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000339139	Transcript	.	.	ENSG00000124490	12024	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CRIS2_HUMAN	CRISP2	HGNC	Q5U8Z9_HUMAN	.	UPI000013728C	SNV	CRISP2,synonymous_variant,p.%3D,ENST00000339139,;	507	63	60	SUCCESS
IBTK	25998	.	GRCh37	6	82906144	82906144	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757016766	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	59	0	ENST00000306270.7:c.3045G>C	p.Lys1015Asn	p.K1015N	ENST00000306270	NM_015525.2	1015	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS34490.1	3045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTCTTACC	NONE	.	.	hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2	.	.	ENSP00000305721	.	22/29	.	.	.	.	.	.	.	.	rs757016766	22/29	PASS	ENST00000306270	Transcript	.	.	ENSG00000005700	17853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0)	.	IBTK_HUMAN	IBTK	HGNC	.	.	UPI000041929F	SNV	IBTK,missense_variant,p.Lys814Asn,ENST00000503631,;IBTK,missense_variant,p.Lys1015Asn,ENST00000306270,;IBTK,intron_variant,,ENST00000510291,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,upstream_gene_variant,,ENST00000471036,;	3595	59	53	SUCCESS
SRPK2	6733	.	GRCh37	7	104844117	104844117	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	44	0	ENST00000357311.3:c.154T>A	p.Ser52Thr	p.S52T	ENST00000357311	NM_182691.2	52	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS34724.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGATCCCA	NONE	.	.	hmmpanther:PTHR24055:SF102,hmmpanther:PTHR24055	.	.	ENSP00000377262	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000393651	Transcript	.	.	ENSG00000135250	11306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	SRPK2_HUMAN	SRPK2	HGNC	.	.	UPI00001A4785	SNV	SRPK2,missense_variant,p.Ser100Thr,ENST00000482897,;SRPK2,missense_variant,p.Ser63Thr,ENST00000393651,;SRPK2,missense_variant,p.Ser52Thr,ENST00000489828,;SRPK2,missense_variant,p.Ser52Thr,ENST00000357311,;SRPK2,missense_variant,p.Ser52Thr,ENST00000460391,;SRPK2,non_coding_transcript_exon_variant,,ENST00000462282,;SRPK2,downstream_gene_variant,,ENST00000482862,;SRPK2,upstream_gene_variant,,ENST00000485455,;SRPK2,non_coding_transcript_exon_variant,,ENST00000476117,;SRPK2,downstream_gene_variant,,ENST00000465112,;CTB-152G17.4,upstream_gene_variant,,ENST00000604391,;	275	44	64	SUCCESS
CHRM2	1129	.	GRCh37	7	136700923	136700923	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	113	117	0	ENST00000320658.5:c.1311T>A	p.Pro437=	p.P437=	ENST00000320658	NM_001006632.1	437	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5843.1	1311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,synonymous_variant,p.%3D,ENST00000320658,;CHRM2,synonymous_variant,p.%3D,ENST00000401861,;CHRM2,synonymous_variant,p.%3D,ENST00000397608,;CHRM2,synonymous_variant,p.%3D,ENST00000402486,;CHRM2,synonymous_variant,p.%3D,ENST00000453373,;CHRM2,synonymous_variant,p.%3D,ENST00000445907,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	1839	117	212	SUCCESS
TAS2R38	5726	.	GRCh37	7	141673139	141673139	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	rs373253461	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	74	0	ENST00000547270.1:c.351C>G	p.Tyr117Ter	p.Y117*	ENST00000547270	NM_176817.4	117	taC/taG	0	A:0.0002	.	.	.	.	C	Y/*	protein_coding	YES	CCDS34765.1	351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGTAAAG	NONE	byCluster	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF52,hmmpanther:PTHR11394	.	A:0	ENSP00000448219	.	1/1	.	.	.	.	.	.	.	.	rs373253461	1/1	PASS	ENST00000547270	Transcript	.	.	ENSG00000257138	9584	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R38_HUMAN	TAS2R38	HGNC	Q50KM3_HUMAN,Q50KM1_HUMAN	.	UPI000000D825	SNV	TAS2R38,stop_gained,p.Tyr117Ter,ENST00000547270,;MGAM,intron_variant,,ENST00000465654,;	435	74	97	SUCCESS
SHH	6469	.	GRCh37	7	155596202	155596202	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	458	159	1074	2	ENST00000297261.2:c.781C>T	p.Arg261Cys	p.R261C	ENST00000297261	NM_000193.2	261	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5942.1	781	RADIA|VARSCANS	.	CTCGCGCGGCT	NONE	.	.	PROSITE_profiles:PS50817,hmmpanther:PTHR11889:SF36,hmmpanther:PTHR11889,Gene3D:2.170.16.10,Pfam_domain:PF01079,PIRSF_domain:PIRSF009400,SMART_domains:SM00306,Superfamily_domains:SSF51294	.	.	ENSP00000297261	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297261	Transcript	.	.	ENSG00000164690	10848	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.96)	.	tolerated(0.18)	.	SHH_HUMAN	SHH	HGNC	D9ZGF9_HUMAN	.	UPI0000135942	SNV	SHH,missense_variant,p.Arg261Cys,ENST00000297261,;SHH,intron_variant,,ENST00000430104,;SHH,downstream_gene_variant,,ENST00000472308,;SHH,intron_variant,,ENST00000441114,;SHH,intron_variant,,ENST00000435425,;	932	1076	617	SUCCESS
MALSU1	115416	.	GRCh37	7	23347541	23347541	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753431892	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	17	129	0	ENST00000466681.1:c.490A>G	p.Thr164Ala	p.T164A	ENST00000466681	NM_138446.1	164	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5381.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACACTGAT	NONE	.	.	Superfamily_domains:SSF81301,Gene3D:3.30.460.10,TIGRFAM_domain:TIGR00090,Pfam_domain:PF02410,hmmpanther:PTHR21043,hmmpanther:PTHR21043:SF0,HAMAP:MF_01477	.	.	ENSP00000419370	.	3/4	.	.	.	.	.	.	.	.	rs753431892	3/4	PASS	ENST00000466681	Transcript	.	.	ENSG00000156928	21721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	tolerated(0.25)	.	MASU1_HUMAN	MALSU1	HGNC	.	.	UPI000007180F	SNV	MALSU1,missense_variant,p.Thr164Ala,ENST00000466681,;IGF2BP3,downstream_gene_variant,,ENST00000258729,;MALSU1,non_coding_transcript_exon_variant,,ENST00000287543,;MALSU1,non_coding_transcript_exon_variant,,ENST00000476623,;IGF2BP3,downstream_gene_variant,,ENST00000498363,;IGF2BP3,downstream_gene_variant,,ENST00000421467,;	643	129	119	SUCCESS
DPY19L1	23333	.	GRCh37	7	34979865	34979865	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	49	0	ENST00000310974.4:c.1545A>C	p.Gln515His	p.Q515H	ENST00000310974	NM_015283.1	515	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS43567.1	1545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTTGTAT	NONE	.	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	.	.	ENSP00000308695	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000310974	Transcript	.	.	ENSG00000173852	22205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.06)	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,missense_variant,p.Gln515His,ENST00000310974,;DPY19L1,upstream_gene_variant,,ENST00000428054,;MIR548N,downstream_gene_variant,,ENST00000408742,;	1690	49	66	SUCCESS
MLXIPL	51085	.	GRCh37	7	73038554	73038554	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	105	210	0	ENST00000313375.3:c.269T>C	p.Phe90Ser	p.F90S	ENST00000313375	NM_032953.2	90	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS5553.1	269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGAAGAGG	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Phe90Ser,ENST00000313375,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000434326,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000395189,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000354613,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000429400,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000453275,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000414749,;MLXIPL,missense_variant,p.Phe90Ser,ENST00000345114,;	317	210	180	SUCCESS
LIMK1	3984	.	GRCh37	7	73525982	73525982	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	104	0	ENST00000336180.2:c.1289G>C	p.Ser430Thr	p.S430T	ENST00000336180	NM_002314.3	430	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS5563.1	1289	MUTECT|MUSE|VARSCANS	.	GGACAGCCAGT	NONE	.	.	Superfamily_domains:SSF56112,Pfam_domain:PF07714,Gene3D:3.30.200.20,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379,PROSITE_profiles:PS50011	.	.	ENSP00000336740	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000336180	Transcript	.	.	ENSG00000106683	6613	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.36)	.	LIMK1_HUMAN	LIMK1	HGNC	Q75MU4_HUMAN	.	UPI000013D678	SNV	LIMK1,missense_variant,p.Ser460Thr,ENST00000418310,;LIMK1,missense_variant,p.Ser396Thr,ENST00000538333,;LIMK1,missense_variant,p.Ser430Thr,ENST00000336180,;LIMK1,3_prime_UTR_variant,,ENST00000435201,;LIMK1,upstream_gene_variant,,ENST00000476792,;LIMK1,downstream_gene_variant,,ENST00000483414,;	1340	104	80	SUCCESS
STEAP2	261729	.	GRCh37	7	89854818	89854818	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	32	0	ENST00000287908.3:c.422T>C	p.Leu141Ser	p.L141S	ENST00000287908	NM_152999.3	141	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS5615.1	422	MUTECT|MUSE	.	TTCTTTGATTG	NONE	.	.	hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF6,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000287908	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000287908	Transcript	.	.	ENSG00000157214	17885	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.67)	.	STEA2_HUMAN	STEAP2	HGNC	C9JLP2_HUMAN,C9JHX5_HUMAN	.	UPI000013DEE0	SNV	STEAP2,missense_variant,p.Leu141Ser,ENST00000394629,;STEAP2,missense_variant,p.Leu141Ser,ENST00000402625,;STEAP2,missense_variant,p.Leu141Ser,ENST00000394632,;STEAP2,missense_variant,p.Leu141Ser,ENST00000394621,;STEAP2,missense_variant,p.Leu141Ser,ENST00000394626,;STEAP2,missense_variant,p.Leu141Ser,ENST00000287908,;STEAP2,missense_variant,p.Leu141Ser,ENST00000428074,;STEAP2,missense_variant,p.Leu141Ser,ENST00000394622,;STEAP2,downstream_gene_variant,,ENST00000426158,;STEAP2,non_coding_transcript_exon_variant,,ENST00000482369,;	815	32	55	SUCCESS
USP17L2	377630	.	GRCh37	8	11995102	11995102	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	73	0	ENST00000333796.3:c.1168G>A	p.Glu390Lys	p.E390K	ENST00000333796	NM_201402.2	390	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43713.1	1168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCCCTGC	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382,Pfam_domain:PF04774	.	.	ENSP00000333329	.	1/1	.	.	.	.	.	.	.	.	COSM3644600	1/1	PASS	ENST00000333796	Transcript	.	.	ENSG00000223443	34434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.038)	.	tolerated(0.59)	1	U17L2_HUMAN	USP17L2	HGNC	.	.	UPI0000198137	SNV	USP17L2,missense_variant,p.Glu390Lys,ENST00000333796,;FAM66D,intron_variant,,ENST00000434078,;USP17L7,upstream_gene_variant,,ENST00000530447,;USP17L7,upstream_gene_variant,,ENST00000416902,;	1485	73	58	SUCCESS
TAF2	6873	.	GRCh37	8	120744294	120744294	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	72	0	ENST00000378164.2:c.3470A>G	p.Lys1157Arg	p.K1157R	ENST00000378164	NM_003184.3	1157	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS34937.1	3470	MUTECT|MUSE	.	TCTTCTTTTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15137	.	.	ENSP00000367406	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000378164	Transcript	1	.	ENSG00000064313	11536	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.931)	.	tolerated_low_confidence(0.11)	.	TAF2_HUMAN	TAF2	HGNC	.	.	UPI0000210507	SNV	TAF2,missense_variant,p.Lys333Arg,ENST00000529653,;TAF2,missense_variant,p.Lys1157Arg,ENST00000378164,;TAF2,downstream_gene_variant,,ENST00000526969,;	3769	72	72	SUCCESS
RECQL4	9401	.	GRCh37	8	145740426	145740426	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1004394987	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	178	0	ENST00000428558.2:c.1514G>C	p.Gly505Ala	p.G505A	ENST00000428558	NM_004260.3	505	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	.	1514	MUTECT|MUSE	.	CGGCACCTGTA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1,TIGRFAM_domain:TIGR00614,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000475456	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Gly505Ala,ENST00000428558,;RECQL4,missense_variant,p.Gly124Ala,ENST00000532846,;MFSD3,downstream_gene_variant,,ENST00000301327,;LRRC14,upstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;CTD-2517M22.17,downstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;LRRC14,upstream_gene_variant,,ENST00000531310,;	1556	178	84	SUCCESS
MTUS1	57509	.	GRCh37	8	17611234	17611234	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	55	0	ENST00000262102.6:c.2083C>T	p.Leu695=	p.L695=	ENST00000262102	NM_001001924.2	695	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43717.1	2083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGAGAAC	NONE	.	.	hmmpanther:PTHR24200:SF7,hmmpanther:PTHR24200	.	.	ENSP00000262102	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000262102	Transcript	1	.	ENSG00000129422	29789	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTUS1_HUMAN	MTUS1	HGNC	.	.	UPI000003FF3C	SNV	MTUS1,synonymous_variant,p.%3D,ENST00000381862,;MTUS1,synonymous_variant,p.%3D,ENST00000381869,;MTUS1,synonymous_variant,p.%3D,ENST00000519263,;MTUS1,synonymous_variant,p.%3D,ENST00000262102,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,synonymous_variant,p.%3D,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;	2308	55	42	SUCCESS
PCM1	5108	.	GRCh37	8	17796420	17796420	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1160037374	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	60	125	0	ENST00000325083.8:c.514A>G	p.Lys172Glu	p.K172E	ENST00000325083	NM_006197.3	172	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS47812.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTAAAGAG	NONE	.	.	hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12	.	.	ENSP00000327077	.	5/39	.	.	.	.	.	.	.	.	.	5/39	PASS	ENST00000325083	Transcript	1	.	ENSG00000078674	8727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.04)	.	PCM1_HUMAN	PCM1	HGNC	E5RGQ4_HUMAN	.	UPI0000210A25	SNV	PCM1,missense_variant,p.Lys172Glu,ENST00000325083,;PCM1,missense_variant,p.Lys172Glu,ENST00000518537,;PCM1,missense_variant,p.Lys172Glu,ENST00000519253,;PCM1,missense_variant,p.Lys172Glu,ENST00000524226,;PCM1,missense_variant,p.Lys172Glu,ENST00000517730,;PCM1,missense_variant,p.Lys172Glu,ENST00000523055,;PCM1,non_coding_transcript_exon_variant,,ENST00000518985,;PCM1,intron_variant,,ENST00000518930,;PCM1,downstream_gene_variant,,ENST00000518936,;	953	125	127	SUCCESS
TRPA1	8989	.	GRCh37	8	72983993	72983993	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	86	0	ENST00000262209.4:c.221G>A	p.Gly74Asp	p.G74D	ENST00000262209	NM_007332.2	74	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS34908.1	221	MUTECT|MUSE	.	TTTGGCCTTCT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.055)	.	deleterious(0.03)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Gly74Asp,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000518916,;	429	86	80	SUCCESS
MURC	0	.	GRCh37	9	103340609	103340609	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs937130678	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	138	0	ENST00000307584.5:c.184G>A	p.Glu62Lys	p.E62K	ENST00000307584	NM_001018116.2	62	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS35083.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGAAAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF4,Pfam_domain:PF15237	.	.	ENSP00000418668	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000307584	Transcript	.	.	ENSG00000170681	33742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0)	.	MURC_HUMAN	MURC	HGNC	.	.	UPI000004CC0D	SNV	MURC,missense_variant,p.Glu62Lys,ENST00000307584,;TMEFF1,downstream_gene_variant,,ENST00000334943,;TMEFF1,downstream_gene_variant,,ENST00000374879,;MSANTD3-TMEFF1,downstream_gene_variant,,ENST00000502978,;RN7SKP87,downstream_gene_variant,,ENST00000364096,;	249	138	94	SUCCESS
RORB	6096	.	GRCh37	9	77249681	77249681	+	synonymous_variant	Silent	SNP	A	A	T	rs1267153412	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	55	0	ENST00000396204.2:c.261A>T	p.Ser87=	p.S87=	ENST00000396204		87	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6646.1	228	MUTECT|MUSE|VARSCANS	.	ATGTCAAGAGA	NONE	.	.	Prints_domain:PR00398,Superfamily_domains:SSF57716,SMART_domains:SM00399,Pfam_domain:PF00105,Gene3D:1.10.565.10,hmmpanther:PTHR24082:SF206,hmmpanther:PTHR24082,PROSITE_profiles:PS51030	.	.	ENSP00000366093	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000376896	Transcript	.	.	ENSG00000198963	10259	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RORB_HUMAN	RORB	HGNC	Q58EY0_HUMAN	.	UPI000015FD94	SNV	RORB,synonymous_variant,p.%3D,ENST00000396204,;RORB,synonymous_variant,p.%3D,ENST00000376896,;	840	55	49	SUCCESS
FAM120AOS	158293	.	GRCh37	9	96213579	96213579	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	73	0	ENST00000375412.5:c.564-698A>G		p.*188*	ENST00000375412	NM_198841.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6705.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCTGCTTCCCT	NONE	.	.	.	.	.	ENSP00000364561	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375412	Transcript	.	.	ENSG00000188938	23389	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F120S_HUMAN	FAM120AOS	HGNC	.	.	UPI000013F924	SNV	FAM120AOS,5_prime_UTR_variant,,ENST00000423591,;FAM120AOS,intron_variant,,ENST00000375412,;FAM120AOS,upstream_gene_variant,,ENST00000428378,;FAM120A,upstream_gene_variant,,ENST00000340893,;FAM120A,upstream_gene_variant,,ENST00000446420,;FAM120A,upstream_gene_variant,,ENST00000333936,;FAM120A,upstream_gene_variant,,ENST00000375389,;FAM120A,upstream_gene_variant,,ENST00000277165,;FAM120AOS,non_coding_transcript_exon_variant,,ENST00000520403,;FAM120AOS,non_coding_transcript_exon_variant,,ENST00000523407,;FAM120AOS,non_coding_transcript_exon_variant,,ENST00000479094,;FAM120AOS,intron_variant,,ENST00000520470,;FAM120AOS,intron_variant,,ENST00000483149,;FAM120AOS,upstream_gene_variant,,ENST00000428152,;FAM120AOS,upstream_gene_variant,,ENST00000483056,;FAM120AOS,5_prime_UTR_variant,,ENST00000476484,;	.	73	12	SUCCESS
CUL4B	8450	.	GRCh37	X	119672026	119672026	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	26	95	0	ENST00000404115.3:c.1945T>C	p.Phe649Leu	p.F649L	ENST00000404115	NM_003588.3	649	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS35379.1	1945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAACATTC	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF66,Pfam_domain:PF00888,Gene3D:1.20.1310.10,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000384109	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000404115	Transcript	.	.	ENSG00000158290	2555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	deleterious(0.02)	.	CUL4B_HUMAN	CUL4B	HGNC	.	.	UPI0000246E48	SNV	CUL4B,missense_variant,p.Phe636Leu,ENST00000336592,;CUL4B,missense_variant,p.Phe631Leu,ENST00000371322,;CUL4B,missense_variant,p.Phe649Leu,ENST00000404115,;CUL4B,non_coding_transcript_exon_variant,,ENST00000497616,;	2347	95	99	SUCCESS
GLUD2	2747	.	GRCh37	X	120181749	120181749	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	608	77	1067	0	ENST00000328078.1:c.211G>A	p.Glu71Lys	p.E71K	ENST00000328078	NM_012084.3	71	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14603.1	211	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGGAGGGC	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3mw9A01,Superfamily_domains:SSF53223	.	.	ENSP00000327589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328078	Transcript	.	.	ENSG00000182890	4336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.056)	.	tolerated(0.08)	.	DHE4_HUMAN	GLUD2	HGNC	Q9BSD0_HUMAN	.	UPI0000129301	SNV	GLUD2,missense_variant,p.Glu71Lys,ENST00000328078,;	288	1067	686	SUCCESS
FRMPD4	9758	.	GRCh37	X	12736467	12736467	+	synonymous_variant	Silent	SNP	C	C	T	rs775346589	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	25	190	0	ENST00000380682.1:c.3522C>T	p.Cys1174=	p.C1174=	ENST00000380682	NM_014728.3	1174	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS35201.1	3522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCGACCA	NONE	byFrequency	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3	.	.	ENSP00000370057	.	16/17	.	.	.	.	.	.	.	.	rs775346589	16/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,synonymous_variant,p.%3D,ENST00000380682,;	4028	190	96	SUCCESS
ARHGAP36	158763	.	GRCh37	X	130222641	130222641	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs182540216	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	53	0	ENST00000276211.5:c.1526G>A	p.Arg509His	p.R509H	ENST00000276211	NM_144967.3	509	cGt/cAt	0	.	A:0	.	A:0.0014	.	A	R/H	protein_coding	YES	CCDS14628.1	1526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGTTCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12635:SF5,hmmpanther:PTHR12635	A:0	.	ENSP00000276211	A:0	12/12	.	.	.	.	.	.	.	.	rs182540216,COSM1115198	12/12	PASS	ENST00000276211	Transcript	.	A:0.0003	ENSG00000147256	26388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	A:0	tolerated(0.47)	0,1	RHG36_HUMAN	ARHGAP36	HGNC	.	.	UPI0000041347	SNV	ARHGAP36,missense_variant,p.Arg509His,ENST00000276211,;ARHGAP36,missense_variant,p.Arg497His,ENST00000370922,;ARHGAP36,missense_variant,p.Arg478His,ENST00000412432,;ARHGAP36,missense_variant,p.Arg373His,ENST00000370921,;ARHGAP36,downstream_gene_variant,,ENST00000423277,;	1871	53	66	SUCCESS
OR13H1	347468	.	GRCh37	X	130678588	130678588	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	18	78	0	ENST00000338616.3:c.541C>G	p.Leu181Val	p.L181V	ENST00000338616	NM_001004486.1	181	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS35396.1	541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCTCTCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF76,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000340748	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338616	Transcript	.	.	ENSG00000171054	14755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.254)	.	tolerated(0.09)	.	O13H1_HUMAN	OR13H1	HGNC	.	.	UPI000003CAC9	SNV	OR13H1,missense_variant,p.Leu181Val,ENST00000338616,;	639	78	104	SUCCESS
SMIM10	644538	.	GRCh37	X	134125311	134125311	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	37	303	0	ENST00000330288.4:c.186G>C	p.Lys62Asn	p.K62N	ENST00000330288	NM_001163438.1	62	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS55502.1	186	RADIA|MUTECT|MUSE|VARSCANS	.	CGCAAGAACTT	NONE	.	.	Pfam_domain:PF15118	.	.	ENSP00000328335	.	1/1	.	.	.	.	.	.	.	.	COSM1598828,COSM1598827	1/1	PASS	ENST00000330288	Transcript	.	.	ENSG00000184785	41913	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.005)	.	deleterious(0.02)	1,1	SIM10_HUMAN	SMIM10	HGNC	.	.	UPI00003FCD5A	SNV	SMIM10,missense_variant,p.Lys62Asn,ENST00000330288,;	344	303	200	SUCCESS
VGLL1	51442	.	GRCh37	X	135632968	135632968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	18	169	0	ENST00000370634.3:c.676C>T	p.Leu226Phe	p.L226F	ENST00000370634	NM_016267.3	226	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14658.1	676	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCTTCCA	NONE	.	.	.	.	.	ENSP00000359668	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000370634	Transcript	.	.	ENSG00000102243	20985	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	VGLL1_HUMAN	VGLL1	HGNC	.	.	UPI0000071D9A	SNV	VGLL1,missense_variant,p.Leu144Phe,ENST00000440515,;VGLL1,missense_variant,p.Leu226Phe,ENST00000370634,;VGLL1,missense_variant,p.Leu28Phe,ENST00000456412,;MIR934,upstream_gene_variant,,ENST00000401241,;VGLL1,non_coding_transcript_exon_variant,,ENST00000470358,;	846	169	136	SUCCESS
TRO	7216	.	GRCh37	X	54957372	54957372	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	134	0	ENST00000173898.7:c.4215C>T	p.Gly1405=	p.G1405=	ENST00000173898	NM_001039705.2	1405	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43959.1	4215	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCTTTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,synonymous_variant,p.%3D,ENST00000375041,;TRO,synonymous_variant,p.%3D,ENST00000420798,;TRO,synonymous_variant,p.%3D,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;PFKFB1,downstream_gene_variant,,ENST00000545676,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000374992,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,downstream_gene_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,3_prime_UTR_variant,,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,downstream_gene_variant,,ENST00000469211,;	4327	134	98	SUCCESS
USP51	158880	.	GRCh37	X	55514722	55514722	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	92	482	0	ENST00000500968.3:c.651T>C	p.Arg217=	p.R217=	ENST00000500968	NM_201286.3	217	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS14370.1	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAAACGCTG	NONE	.	.	Superfamily_domains:SSF57850,Superfamily_domains:SSF101447,Gene3D:3.30.40.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF398	.	.	ENSP00000423333	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000500968	Transcript	.	.	ENSG00000247746	23086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP51_HUMAN	USP51	HGNC	.	.	UPI0000232F07	SNV	USP51,synonymous_variant,p.%3D,ENST00000500968,;USP51,intron_variant,,ENST00000586165,;	734	482	259	SUCCESS
NONO	4841	.	GRCh37	X	70517737	70517737	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	76	242	0	ENST00000276079.8:c.1080A>C	p.Glu360Asp	p.E360D	ENST00000276079	NM_007363.4	360	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS14410.1	1080	RADIA|MUTECT|MUSE	.	CAAGAAGAAAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23189:SF15,hmmpanther:PTHR23189	.	.	ENSP00000276079	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000276079	Transcript	.	.	ENSG00000147140	7871	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.952)	.	tolerated(0.1)	.	NONO_HUMAN	NONO	HGNC	C9JJ13_HUMAN,C9IZL7_HUMAN	.	UPI000002EFDD	SNV	NONO,missense_variant,p.Glu222Asp,ENST00000418921,;NONO,missense_variant,p.Glu360Asp,ENST00000373841,;NONO,missense_variant,p.Glu360Asp,ENST00000276079,;NONO,missense_variant,p.Glu360Asp,ENST00000373856,;NONO,missense_variant,p.Glu271Asp,ENST00000535149,;ITGB1BP2,upstream_gene_variant,,ENST00000373829,;NONO,downstream_gene_variant,,ENST00000420903,;NONO,downstream_gene_variant,,ENST00000454976,;ITGB1BP2,upstream_gene_variant,,ENST00000538820,;NONO,downstream_gene_variant,,ENST00000413858,;NONO,non_coding_transcript_exon_variant,,ENST00000490044,;NONO,non_coding_transcript_exon_variant,,ENST00000474431,;NONO,non_coding_transcript_exon_variant,,ENST00000473525,;NONO,intron_variant,,ENST00000472185,;NONO,downstream_gene_variant,,ENST00000471419,;NONO,downstream_gene_variant,,ENST00000486613,;ITGB1BP2,upstream_gene_variant,,ENST00000483897,;AL590762.1,upstream_gene_variant,,ENST00000536900,;	1285	242	201	SUCCESS
NONO	4841	.	GRCh37	X	70517753	70517753	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	76	244	0	ENST00000276079.8:c.1096C>T	p.Gln366Ter	p.Q366*	ENST00000276079	NM_007363.4	366	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS14410.1	1096	RADIA|MUTECT|MUSE	.	GGCGACAGCAG	BUFFER|p.R365*|c.1093C>T|3	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23189:SF15,hmmpanther:PTHR23189	.	.	ENSP00000276079	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000276079	Transcript	.	.	ENSG00000147140	7871	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NONO_HUMAN	NONO	HGNC	C9JJ13_HUMAN,C9IZL7_HUMAN	.	UPI000002EFDD	SNV	NONO,stop_gained,p.Gln228Ter,ENST00000418921,;NONO,stop_gained,p.Gln366Ter,ENST00000373841,;NONO,stop_gained,p.Gln366Ter,ENST00000276079,;NONO,stop_gained,p.Gln366Ter,ENST00000373856,;NONO,stop_gained,p.Gln277Ter,ENST00000535149,;ITGB1BP2,upstream_gene_variant,,ENST00000373829,;NONO,downstream_gene_variant,,ENST00000420903,;NONO,downstream_gene_variant,,ENST00000454976,;ITGB1BP2,upstream_gene_variant,,ENST00000538820,;NONO,downstream_gene_variant,,ENST00000413858,;NONO,non_coding_transcript_exon_variant,,ENST00000490044,;NONO,non_coding_transcript_exon_variant,,ENST00000474431,;NONO,non_coding_transcript_exon_variant,,ENST00000473525,;NONO,intron_variant,,ENST00000472185,;NONO,downstream_gene_variant,,ENST00000471419,;NONO,downstream_gene_variant,,ENST00000486613,;ITGB1BP2,upstream_gene_variant,,ENST00000483897,;AL590762.1,upstream_gene_variant,,ENST00000536900,;	1301	244	197	SUCCESS
CYSLTR1	10800	.	GRCh37	X	77528345	77528345	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	159	494	0	ENST00000373304.3:c.899G>T	p.Gly300Val	p.G300V	ENST00000373304	NM_001282188.1	300	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14439.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTACCCCCA	NONE	.	.	hmmpanther:PTHR24230:SF12,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000362401	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373304	Transcript	.	.	ENSG00000173198	17451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.737)	.	deleterious(0.02)	.	CLTR1_HUMAN	CYSLTR1	HGNC	Q38Q91_HUMAN,Q38Q88_HUMAN	.	UPI000003ACDF	SNV	CYSLTR1,missense_variant,p.Gly300Val,ENST00000373304,;	1192	494	416	SUCCESS
GPR174	84636	.	GRCh37	X	78427214	78427214	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	54	0	ENST00000276077.1:c.710G>A	p.Gly237Glu	p.G237E	ENST00000276077	NM_032553.1	237	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS14443.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGGGTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24237:SF4,hmmpanther:PTHR24237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	COSM320661	1/1	PASS	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.295)	.	deleterious(0.01)	1	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,missense_variant,p.Gly237Glu,ENST00000276077,;	746	54	78	SUCCESS
PPRC1	23082	.	GRCh37	10	103906507	103906507	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	108	0	ENST00000278070.2:c.3758C>G	p.Ser1253Cys	p.S1253C	ENST00000278070	NM_015062.3	1253	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS7529.1	3758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCTCCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15528:SF5,hmmpanther:PTHR15528	.	.	ENSP00000278070	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000278070	Transcript	.	.	ENSG00000148840	30025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	PPRC1_HUMAN	PPRC1	HGNC	.	.	UPI000013DB5C	SNV	PPRC1,missense_variant,p.Ser1253Cys,ENST00000278070,;PPRC1,missense_variant,p.Ser220Cys,ENST00000370012,;PPRC1,intron_variant,,ENST00000413464,;PPRC1,intron_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000495914,;PPRC1,downstream_gene_variant,,ENST00000462933,;	3797	108	83	SUCCESS
GRIK4	2900	.	GRCh37	11	120690494	120690494	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	117	0	ENST00000438375.2:c.376T>C	p.Phe126Leu	p.F126L	ENST00000438375	NM_014619.2	126	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS8433.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGTTCGTC	NONE	.	.	hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000435648	.	6/21	.	.	.	.	.	.	.	.	COSM175176	6/21	PASS	ENST00000527524	Transcript	.	.	ENSG00000149403	4582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.65)	1	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,missense_variant,p.Phe126Leu,ENST00000438375,;GRIK4,missense_variant,p.Phe126Leu,ENST00000527524,;GRIK4,downstream_gene_variant,,ENST00000526536,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	663	118	86	SUCCESS
RRP8	23378	.	GRCh37	11	6624754	6624754	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	59	0	ENST00000254605.6:c.-22C>A		p.*8*	ENST00000254605	NM_015324.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31411.1	.	MUTECT|MUSE	.	GGGTCGCCGAG	NONE	.	.	.	.	.	ENSP00000254605	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000254605	Transcript	.	.	ENSG00000132275	29030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RRP8_HUMAN	RRP8	HGNC	E9PPY3_HUMAN	.	UPI00001580F8	SNV	RRP8,5_prime_UTR_variant,,ENST00000534343,;RRP8,5_prime_UTR_variant,,ENST00000254605,;ILK,upstream_gene_variant,,ENST00000528995,;ILK,upstream_gene_variant,,ENST00000420936,;ILK,upstream_gene_variant,,ENST00000396751,;ILK,upstream_gene_variant,,ENST00000537806,;ILK,upstream_gene_variant,,ENST00000299421,;RP11-732A19.8,downstream_gene_variant,,ENST00000527191,;ILK,upstream_gene_variant,,ENST00000528784,;ILK,upstream_gene_variant,,ENST00000534565,;ILK,upstream_gene_variant,,ENST00000524735,;ILK,upstream_gene_variant,,ENST00000526318,;RRP8,5_prime_UTR_variant,,ENST00000530762,;RRP8,5_prime_UTR_variant,,ENST00000533907,;ILK,upstream_gene_variant,,ENST00000526114,;ILK,upstream_gene_variant,,ENST00000527394,;ILK,upstream_gene_variant,,ENST00000527327,;ILK,upstream_gene_variant,,ENST00000532063,;ILK,upstream_gene_variant,,ENST00000527121,;RRP8,upstream_gene_variant,,ENST00000526352,;TAF10,downstream_gene_variant,,ENST00000526743,;	97	60	40	SUCCESS
P4HA3	283208	.	GRCh37	11	74013578	74013578	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1192450731	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	120	0	ENST00000331597.4:c.403G>C	p.Gly135Arg	p.G135R	ENST00000331597	NM_182904.3	135	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS8230.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCCTCAA	NONE	.	.	hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF14,Pfam_domain:PF08336	.	.	ENSP00000332170	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000331597	Transcript	.	.	ENSG00000149380	30135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	P4HA3_HUMAN	P4HA3	HGNC	H0YCC3_HUMAN	.	UPI00000423C1	SNV	P4HA3,missense_variant,p.Gly135Arg,ENST00000331597,;P4HA3,missense_variant,p.Gly135Arg,ENST00000427714,;P4HA3,missense_variant,p.Gly135Arg,ENST00000524388,;P4HA3,3_prime_UTR_variant,,ENST00000525968,;	449	120	106	SUCCESS
ZNF143	7702	.	GRCh37	11	9494252	9494252	+	synonymous_variant	Silent	SNP	C	C	T	rs761035816	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	122	0	ENST00000396602.2:c.141C>T	p.Gly47=	p.G47=	ENST00000396602	NM_003442.5	47	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7799.2	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCGTAAG	NONE	byFrequency	.	hmmpanther:PTHR11389:SF362,hmmpanther:PTHR11389	.	.	ENSP00000379847	.	3/16	.	.	.	.	.	.	.	.	rs761035816	3/16	PASS	ENST00000396602	Transcript	.	.	ENSG00000166478	12928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN143_HUMAN	ZNF143	HGNC	E9PPB0_HUMAN,E9PJF2_HUMAN,C9JTC5_HUMAN,C9JCG1_HUMAN,C9J2G7_HUMAN	.	UPI00001F9D01	SNV	ZNF143,synonymous_variant,p.%3D,ENST00000531943,;ZNF143,synonymous_variant,p.%3D,ENST00000534265,;ZNF143,synonymous_variant,p.%3D,ENST00000417726,;ZNF143,synonymous_variant,p.%3D,ENST00000526657,;ZNF143,synonymous_variant,p.%3D,ENST00000438144,;ZNF143,synonymous_variant,p.%3D,ENST00000396602,;ZNF143,synonymous_variant,p.%3D,ENST00000396604,;ZNF143,synonymous_variant,p.%3D,ENST00000414370,;ZNF143,synonymous_variant,p.%3D,ENST00000412390,;ZNF143,synonymous_variant,p.%3D,ENST00000532577,;ZNF143,synonymous_variant,p.%3D,ENST00000530463,;ZNF143,synonymous_variant,p.%3D,ENST00000299606,;ZNF143,intron_variant,,ENST00000533542,;ZNF143,intron_variant,,ENST00000396597,;ZNF143,synonymous_variant,p.%3D,ENST00000496276,;ZNF143,non_coding_transcript_exon_variant,,ENST00000527597,;	260	122	92	SUCCESS
GNPTAB	79158	.	GRCh37	12	102190473	102190473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	124	0	ENST00000299314.7:c.185G>T	p.Gly62Val	p.G62V	ENST00000299314	NM_024312.4	62	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9088.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCCAGCA	NONE	.	.	hmmpanther:PTHR24045:SF0,hmmpanther:PTHR24045	.	.	ENSP00000299314	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000299314	Transcript	.	.	ENSG00000111670	29670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GNPTA_HUMAN	GNPTAB	HGNC	Q9NV34_HUMAN,Q68CM9_HUMAN,F8VQW2_HUMAN	.	UPI000004CC0C	SNV	GNPTAB,missense_variant,p.Gly62Val,ENST00000549940,;GNPTAB,missense_variant,p.Gly62Val,ENST00000549165,;GNPTAB,missense_variant,p.Gly62Val,ENST00000392919,;GNPTAB,missense_variant,p.Gly62Val,ENST00000299314,;RNU6-172P,upstream_gene_variant,,ENST00000411000,;	448	124	114	SUCCESS
KRT79	338785	.	GRCh37	12	53225368	53225368	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	55	0	ENST00000330553.5:c.520T>C	p.Trp174Arg	p.W174R	ENST00000330553	NM_175834.2	174	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS8839.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCACTTGG	NONE	.	.	Prints_domain:PR01276,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000328358	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,missense_variant,p.Trp174Arg,ENST00000330553,;KRT79,upstream_gene_variant,,ENST00000546453,;	555	55	61	SUCCESS
CARKD	0	.	GRCh37	13	111287890	111287890	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	100	0	ENST00000309957.2:c.727G>T	p.Val243Leu	p.V243L	ENST00000309957	NM_001242881.1	243	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS9513.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGGTGGTC	NONE	.	.	PROSITE_profiles:PS51383,HAMAP:MF_01965,hmmpanther:PTHR12592,TIGRFAM_domain:TIGR00196,Pfam_domain:PF01256,Gene3D:3.40.1190.20,Superfamily_domains:SSF53613	.	.	ENSP00000311984	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000309957	Transcript	.	.	ENSG00000213995	25576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.08)	.	NNRD_HUMAN	CARKD	HGNC	.	.	UPI000013DD48	SNV	CARKD,missense_variant,p.Val243Leu,ENST00000309957,;CARKD,missense_variant,p.Val133Leu,ENST00000424185,;CARKD,missense_variant,p.Val112Leu,ENST00000458711,;CARKD,downstream_gene_variant,,ENST00000397191,;CARKD,non_coding_transcript_exon_variant,,ENST00000470164,;AL139385.1,upstream_gene_variant,,ENST00000545740,;	741	100	87	SUCCESS
KIF26A	26153	.	GRCh37	14	104642745	104642745	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	81	0	ENST00000423312.2:c.3620A>T	p.His1207Leu	p.H1207L	ENST00000423312	NM_015656.1	1207	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS45171.1	3620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCACTCCA	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.His1068Leu,ENST00000315264,;KIF26A,missense_variant,p.His1207Leu,ENST00000423312,;	3620	82	64	SUCCESS
JPH4	84502	.	GRCh37	14	24044991	24044991	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754712369	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	126	0	ENST00000356300.4:c.1054C>T	p.Arg352Trp	p.R352W	ENST00000356300	NM_001146028.1	352	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9603.1	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGAAGGG	NONE	byFrequency	.	PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085:SF14,hmmpanther:PTHR23085	.	.	ENSP00000380307	.	4/7	.	.	.	.	.	.	.	.	rs754712369	4/7	PASS	ENST00000397118	Transcript	.	.	ENSG00000092051	20156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	JPH4_HUMAN	JPH4	HGNC	.	.	UPI00001C1F68	SNV	JPH4,missense_variant,p.Arg352Trp,ENST00000397118,;JPH4,missense_variant,p.Arg352Trp,ENST00000356300,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,;	1957	127	113	SUCCESS
RGS6	9628	.	GRCh37	14	72976961	72976961	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	95	0	ENST00000553530.1:c.1065G>T	p.Glu355Asp	p.E355D	ENST00000553530	NM_004296.5	355	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS55924.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGTCCGA	BUFFER|p.F358F|c.1074C>T|3,BUFFER|p.F358F|c.1074C>T|3	.	.	Prints_domain:PR01301,Superfamily_domains:SSF48097,SMART_domains:SM00315,Gene3D:1.10.196.10,Pfam_domain:PF00615,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF27,PROSITE_profiles:PS50132	.	.	ENSP00000451030	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000553525	Transcript	.	.	ENSG00000182732	10002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	tolerated(0.24)	.	RGS6_HUMAN	RGS6	HGNC	Q59FJ8_HUMAN	.	UPI00001698D0	SNV	RGS6,missense_variant,p.Glu355Asp,ENST00000555571,;RGS6,missense_variant,p.Glu355Asp,ENST00000355512,;RGS6,missense_variant,p.Glu355Asp,ENST00000406236,;RGS6,missense_variant,p.Glu318Asp,ENST00000343854,;RGS6,missense_variant,p.Glu286Asp,ENST00000434263,;RGS6,missense_variant,p.Glu355Asp,ENST00000553530,;RGS6,missense_variant,p.Glu355Asp,ENST00000404301,;RGS6,missense_variant,p.Glu355Asp,ENST00000553525,;RGS6,missense_variant,p.Glu355Asp,ENST00000556437,;RGS6,missense_variant,p.Glu355Asp,ENST00000402788,;RGS6,missense_variant,p.Glu216Asp,ENST00000554782,;RGS6,missense_variant,p.Glu355Asp,ENST00000407322,;RGS6,upstream_gene_variant,,ENST00000553519,;RGS6,missense_variant,p.Glu355Asp,ENST00000554474,;	1588	95	81	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40313165	40313165	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	52	186	0	ENST00000263791.5:c.4239C>G	p.Ile1413Met	p.I1413M	ENST00000263791	NM_001013703.2	1413	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS42016.1	4239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCAACCT	NONE	.	.	hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,Pfam_domain:PF12745,Gene3D:3.40.50.800,PIRSF_domain:PIRSF000660	.	.	ENSP00000263791	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	deleterious(0.01)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Ile1191Met,ENST00000560855,;EIF2AK4,missense_variant,p.Ile1385Met,ENST00000382727,;EIF2AK4,missense_variant,p.Ile1413Met,ENST00000263791,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558743,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558557,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558629,;EIF2AK4,upstream_gene_variant,,ENST00000559032,;	4282	186	145	SUCCESS
TTBK2	146057	.	GRCh37	15	43045067	43045067	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	39	105	0	ENST00000267890.6:c.2377T>G	p.Leu793Val	p.L793V	ENST00000267890	NM_173500.3	793	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS42029.1	2377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTAACTTCT	NONE	.	.	.	.	.	ENSP00000267890	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000267890	Transcript	1	.	ENSG00000128881	19141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.37)	.	tolerated_low_confidence(0.12)	.	TTBK2_HUMAN	TTBK2	HGNC	H3BTY5_HUMAN	.	UPI0000043542	SNV	TTBK2,missense_variant,p.Leu793Val,ENST00000267890,;	2486	105	108	SUCCESS
C16orf45	0	.	GRCh37	16	15609232	15609232	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	88	0	ENST00000300006.4:c.177A>C	p.Lys59Asn	p.K59N	ENST00000300006	NM_033201.2	59	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS10561.1	177	MUTECT|MUSE	.	GCAAAAATTCA	NONE	.	.	hmmpanther:PTHR22704,hmmpanther:PTHR22704:SF1,Pfam_domain:PF12130	.	.	ENSP00000300006	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000300006	Transcript	.	.	ENSG00000166780	19213	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CP045_HUMAN	C16orf45	HGNC	B4DE25_HUMAN	.	UPI000006CFC7	SNV	C16orf45,missense_variant,p.Lys42Asn,ENST00000452191,;C16orf45,missense_variant,p.Lys24Asn,ENST00000564389,;C16orf45,missense_variant,p.Lys59Asn,ENST00000300006,;C16orf45,missense_variant,p.Lys59Asn,ENST00000566490,;C16orf45,missense_variant,p.Lys11Asn,ENST00000561692,;RP11-1021N1.1,downstream_gene_variant,,ENST00000568766,;C16orf45,missense_variant,p.Lys59Asn,ENST00000561813,;C16orf45,3_prime_UTR_variant,,ENST00000570249,;C16orf45,non_coding_transcript_exon_variant,,ENST00000567550,;RP11-1021N1.1,downstream_gene_variant,,ENST00000567442,;RP11-1021N1.1,downstream_gene_variant,,ENST00000568222,;	536	88	68	SUCCESS
ABCC12	94160	.	GRCh37	16	48139142	48139159	+	inframe_deletion	In_Frame_Del	DEL	ACACCATGCTTGCAGTGT	ACACCATGCTTGCAGTGT	-	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	ACACCATGCTTGCAGTGT	ACACCATGCTTGCAGTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	111	0	ENST00000311303.3:c.2564_2581del	p.Tyr855_Val860del	p.Y855_V860del	ENST00000311303	NM_033226.2	855	tACACTGCAAGCATGGTGTtc/ttc	0	.	.	.	.	.	-	YTASMVF/F	protein_coding	YES	CCDS10730.1	2564-2581	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATGAACACCATGCTTGCAGTGTACACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000311030	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000311303	Transcript	.	.	ENSG00000140798	14640	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MRP9_HUMAN	ABCC12	HGNC	E9PHY2_HUMAN	.	UPI0000456987	deletion	ABCC12,inframe_deletion,p.Tyr852_Val857del,ENST00000448542,;ABCC12,inframe_deletion,p.Tyr855_Val860del,ENST00000311303,;ABCC12,3_prime_UTR_variant,,ENST00000416054,;ABCC12,inframe_deletion,p.Tyr852_Val857del,ENST00000532494,;ABCC12,inframe_deletion,p.Tyr852_Val857del,ENST00000529504,;ABCC12,inframe_deletion,p.Tyr852_Val857del,ENST00000497206,;ABCC12,inframe_deletion,p.Tyr773_Val778del,ENST00000534418,;ABCC12,3_prime_UTR_variant,,ENST00000529084,;	2910-2927	111	88	SUCCESS
CES2	8824	.	GRCh37	16	66971949	66971949	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	83	0	ENST00000317091.4:c.278C>G	p.Ser93Ter	p.S93*	ENST00000317091	NM_003869.5	93	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS10825.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCAGCCA	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF148,Pfam_domain:PF00135,Gene3D:3.40.50.1820	.	.	ENSP00000317842	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000317091	Transcript	.	.	ENSG00000172831	1864	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EST2_HUMAN	CES2	HGNC	J3QLP1_HUMAN,J3QKN7_HUMAN	.	UPI0000074733	SNV	CES2,stop_gained,p.Ser93Ter,ENST00000317091,;CES2,stop_gained,p.Ser93Ter,ENST00000417689,;CES2,intron_variant,,ENST00000561697,;FAM96B,upstream_gene_variant,,ENST00000568572,;FAM96B,upstream_gene_variant,,ENST00000422424,;FAM96B,upstream_gene_variant,,ENST00000567511,;CES2,upstream_gene_variant,,ENST00000564420,;CES2,downstream_gene_variant,,ENST00000566182,;RP11-361L15.4,upstream_gene_variant,,ENST00000566869,;CES2,3_prime_UTR_variant,,ENST00000568470,;CES2,3_prime_UTR_variant,,ENST00000570032,;CES2,non_coding_transcript_exon_variant,,ENST00000566359,;CES2,upstream_gene_variant,,ENST00000568347,;CES2,upstream_gene_variant,,ENST00000567128,;FAM96B,upstream_gene_variant,,ENST00000569299,;CES2,upstream_gene_variant,,ENST00000563988,;CES2,upstream_gene_variant,,ENST00000561843,;FAM96B,upstream_gene_variant,,ENST00000563490,;FAM96B,upstream_gene_variant,,ENST00000562362,;	1262	83	87	SUCCESS
ZNF469	84627	.	GRCh37	16	88503444	88503444	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	82	0	ENST00000437464.1:c.9482T>A	p.Met3161Lys	p.M3161K	ENST00000437464	NM_001127464.1	3161	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS45544.1	9482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGATGTACA	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Met3189Lys,ENST00000565624,;ZNF469,missense_variant,p.Met3161Lys,ENST00000437464,;	9482	82	59	SUCCESS
ATAD5	79915	.	GRCh37	17	29203505	29203505	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	111	417	1	ENST00000321990.4:c.3721T>A	p.Phe1241Ile	p.F1241I	ENST00000321990	NM_024857.3	1241	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS11260.1	3721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATTTTAAA	NONE	.	.	hmmpanther:PTHR15828:SF1,hmmpanther:PTHR15828,SMART_domains:SM00382	.	.	ENSP00000313171	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000321990	Transcript	.	.	ENSG00000176208	25752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,missense_variant,p.Phe1241Ile,ENST00000321990,;ATAD5,downstream_gene_variant,,ENST00000578295,;	4099	418	359	SUCCESS
PTRF	0	.	GRCh37	17	40574761	40574761	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758025496	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	31	129	0	ENST00000357037.5:c.355G>A	p.Val119Ile	p.V119I	ENST00000357037	NM_012232.5	119	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS11425.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGACGCTGA	NONE	byFrequency	.	hmmpanther:PTHR15240:SF3,hmmpanther:PTHR15240,Pfam_domain:PF15237	.	.	ENSP00000349541	.	1/2	.	.	.	.	.	.	.	.	rs758025496	1/2	PASS	ENST00000357037	Transcript	.	.	ENSG00000177469	9688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.1)	.	PTRF_HUMAN	PTRF	HGNC	.	.	UPI00001AF3C2	SNV	PTRF,missense_variant,p.Val119Ile,ENST00000357037,;	775	129	112	SUCCESS
ITGB3	3690	.	GRCh37	17	45369918	45369918	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766268682	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	830	380	1494	1	ENST00000559488.1:c.1674G>T	p.Lys558Asn	p.K558N	ENST00000559488	NM_000212.2	558	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS11511.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAGGGGGA	NONE	.	.	hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF57196	.	.	ENSP00000452786	.	10/15	.	.	.	.	.	.	.	.	rs766268682	10/15	PASS	ENST00000559488	Transcript	.	.	ENSG00000259207	6156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.534)	.	tolerated(0.1)	.	ITB3_HUMAN	ITGB3	HGNC	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN	.	UPI000013D240	SNV	ITGB3,missense_variant,p.Lys511Asn,ENST00000435993,;ITGB3,missense_variant,p.Lys558Asn,ENST00000559488,;ITGB3,downstream_gene_variant,,ENST00000571680,;ITGB3,missense_variant,p.Lys547Asn,ENST00000560629,;ITGB3,downstream_gene_variant,,ENST00000573377,;	1690	1495	1211	SUCCESS
MARCH10	0	.	GRCh37	17	60814029	60814029	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	91	0	ENST00000311269.5:c.1200T>A	p.Pro400=	p.P400=	ENST00000311269	NM_152598.2	400	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11635.1	1200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGAGGGCT	NONE	.	.	hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5	.	.	ENSP00000311496	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000311269	Transcript	.	.	ENSG00000173838	26655	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARHA_HUMAN	MARCH10	HGNC	J3KTK3_HUMAN	.	UPI000013F13A	SNV	MARCH10,synonymous_variant,p.%3D,ENST00000583600,;MARCH10,synonymous_variant,p.%3D,ENST00000580520,;MARCH10,synonymous_variant,p.%3D,ENST00000456609,;MARCH10,synonymous_variant,p.%3D,ENST00000311269,;MARCH10,synonymous_variant,p.%3D,ENST00000544856,;MARCH10,upstream_gene_variant,,ENST00000579620,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000582564,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000577270,;RP11-156L14.1,downstream_gene_variant,,ENST00000584597,;RP11-156L14.1,downstream_gene_variant,,ENST00000579201,;	1475	91	110	SUCCESS
DYM	54808	.	GRCh37	18	46798586	46798586	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	62	275	0	ENST00000269445.6:c.1213A>G	p.Thr405Ala	p.T405A	ENST00000269445	NM_017653.3	405	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11937.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGTAAGGA	NONE	.	.	hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742	.	.	ENSP00000269445	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000269445	Transcript	.	.	ENSG00000141627	21317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.654)	.	deleterious(0.01)	.	DYM_HUMAN	DYM	HGNC	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN	.	UPI00001AE953	SNV	DYM,missense_variant,p.Thr405Ala,ENST00000269445,;DYM,missense_variant,p.Thr215Ala,ENST00000442713,;	1671	275	254	SUCCESS
APLP1	333	.	GRCh37	19	36363437	36363437	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	165	0	ENST00000221891.4:c.903T>A	p.Pro301=	p.P301=	ENST00000221891	NM_001024807.1	301	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32997.1	903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCTGGGGA	NONE	.	.	hmmpanther:PTHR23103:SF13,hmmpanther:PTHR23103,Pfam_domain:PF12925,Superfamily_domains:0043391,Prints_domain:PR00203	.	.	ENSP00000221891	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000221891	Transcript	.	.	ENSG00000105290	597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APLP1_HUMAN	APLP1	HGNC	K7EQJ4_HUMAN,K7ELK0_HUMAN,A4UCT6_HUMAN	.	UPI000020215E	SNV	APLP1,synonymous_variant,p.%3D,ENST00000592316,;APLP1,synonymous_variant,p.%3D,ENST00000221891,;APLP1,synonymous_variant,p.%3D,ENST00000586861,;APLP1,synonymous_variant,p.%3D,ENST00000537454,;APLP1,downstream_gene_variant,,ENST00000589743,;APLP1,upstream_gene_variant,,ENST00000587274,;APLP1,upstream_gene_variant,,ENST00000588808,;NPHS1,upstream_gene_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000589298,;APLP1,3_prime_UTR_variant,,ENST00000590561,;	1095	165	111	SUCCESS
ZNF527	84503	.	GRCh37	19	37870128	37870128	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs561350704	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	18	131	0	ENST00000436120.2:c.140A>G	p.Tyr47Cys	p.Y47C	ENST00000436120	NM_032453.1	47	tAc/tGc	0	.	G:0	.	G:0	.	G	Y/C	protein_coding	YES	CCDS42559.1	140	RADIA|MUTECT|MUSE|VARSCANS	.	GAACTACAGGA	NONE	by1000G	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	G:0	.	ENSP00000390179	G:0	3/5	.	.	.	.	.	.	.	.	rs561350704	3/5	PASS	ENST00000436120	Transcript	.	G:0.0002	ENSG00000189164	29385	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.797)	G:0.001	deleterious(0)	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,missense_variant,p.Tyr47Cys,ENST00000587349,;ZNF527,missense_variant,p.Tyr47Cys,ENST00000588911,;ZNF527,missense_variant,p.Tyr47Cys,ENST00000483919,;ZNF527,missense_variant,p.Tyr47Cys,ENST00000436120,;ZNF527,non_coding_transcript_exon_variant,,ENST00000589615,;ZNF527,missense_variant,p.Tyr47Cys,ENST00000588512,;ZNF527,missense_variant,p.Tyr47Cys,ENST00000356178,;	247	131	134	SUCCESS
ZNF780A	284323	.	GRCh37	19	40581433	40581433	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	62	202	0	ENST00000340963.5:c.916G>A	p.Val306Ile	p.V306I	ENST00000340963		306	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS46079.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACAAAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF124,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000400997	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000455521	Transcript	.	.	ENSG00000197782	27603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious(0.03)	.	Z780A_HUMAN	ZNF780A	HGNC	.	.	UPI0001881B53	SNV	ZNF780A,missense_variant,p.Val307Ile,ENST00000594395,;ZNF780A,missense_variant,p.Val306Ile,ENST00000340963,;ZNF780A,missense_variant,p.Val272Ile,ENST00000450241,;ZNF780A,missense_variant,p.Val306Ile,ENST00000595687,;ZNF780A,missense_variant,p.Val307Ile,ENST00000455521,;ZNF780A,intron_variant,,ENST00000414720,;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000599972,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;ZNF780A,downstream_gene_variant,,ENST00000599368,;	1067	202	174	SUCCESS
ZNF225	7768	.	GRCh37	19	44635631	44635631	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	36	149	0	ENST00000262894.6:c.864C>T	p.Phe288=	p.F288=	ENST00000262894	NM_013362.2	288	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS46100.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCAAATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000262894	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000262894	Transcript	.	.	ENSG00000256294	13018	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN225_HUMAN	ZNF225	HGNC	K7ERU6_HUMAN,K7ENA2_HUMAN	.	UPI000016960F	SNV	ZNF225,synonymous_variant,p.%3D,ENST00000262894,;ZNF225,synonymous_variant,p.%3D,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,;	1144	149	127	SUCCESS
ACPT	0	.	GRCh37	19	51293729	51293729	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1416355711	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	71	0	ENST00000270593.1:c.58C>G	p.Leu20Val	p.L20V	ENST00000270593	NM_033068.2	20	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12802.1	58	MUTECT|MUSE	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11567:SF117,hmmpanther:PTHR11567	.	.	ENSP00000270593	.	1/11	.	.	.	.	.	.	.	.	COSM1244142	1/11	PASS	ENST00000270593	Transcript	.	.	ENSG00000142513	14376	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.001)	.	tolerated(0.27)	1	PPAT_HUMAN	ACPT	HGNC	.	.	UPI0000048D54	SNV	ACPT,missense_variant,p.Leu20Val,ENST00000270594,;ACPT,missense_variant,p.Leu20Val,ENST00000270593,;CTD-2568A17.1,upstream_gene_variant,,ENST00000563228,;CTD-2568A17.1,upstream_gene_variant,,ENST00000562076,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	58	71	68	SUCCESS
EMR1	0	.	GRCh37	19	6937618	6937618	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	100	0	ENST00000312053.4:c.2614T>A	p.Ser872Thr	p.S872T	ENST00000312053	NM_001974.4	872	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS12175.1	2614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTCAAGG	NONE	.	.	Prints_domain:PR01128,Superfamily_domains:SSF81321,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207	.	.	ENSP00000311545	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000312053	Transcript	.	.	ENSG00000174837	3336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.666)	.	tolerated(0.11)	.	EMR1_HUMAN	EMR1	HGNC	.	.	UPI0000203241	SNV	EMR1,missense_variant,p.Ser853Thr,ENST00000381404,;EMR1,missense_variant,p.Ser731Thr,ENST00000381407,;EMR1,missense_variant,p.Ser695Thr,ENST00000450315,;EMR1,missense_variant,p.Ser807Thr,ENST00000250572,;EMR1,missense_variant,p.Ser872Thr,ENST00000312053,;	2651	100	86	SUCCESS
AMY1C	278	.	GRCh37	1	104297408	104297408	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748837763	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	363	62	381	0	ENST00000370079.3:c.1073G>A	p.Arg358His	p.R358H	ENST00000370079	NM_001008219.1	358	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS30784.1	1073	RADIA|VARSCANS	.	CTACCGTTGGC	NONE	byFrequency	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000359096	.	7/10	.	.	.	.	.	.	.	.	rs748837763	7/10	PASS	ENST00000370079	Transcript	.	.	ENSG00000187733	476	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.52)	.	AMY1_HUMAN	AMY1C	HGNC	Q5T085_HUMAN,Q5T084_HUMAN	.	UPI0000125AA9	SNV	AMY1C,missense_variant,p.Arg358His,ENST00000370079,;	1137	381	425	SUCCESS
ATP1A1	476	.	GRCh37	1	116935513	116935514	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	25	134	0	ENST00000295598.5:c.1373dup	p.Cys459ValfsTer36	p.C459Vfs*36	ENST00000295598	NM_000701.7	457	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS53351.1	1370-1371	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTTAAAGT	NONE	.	.	hmmpanther:PTHR24093:SF222,hmmpanther:PTHR24093,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00702,Superfamily_domains:SSF81660	.	.	ENSP00000445306	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	insertion	ATP1A1,frameshift_variant,p.Cys459ValfsTer36,ENST00000537345,;ATP1A1,frameshift_variant,p.Cys459ValfsTer36,ENST00000295598,;ATP1A1,frameshift_variant,p.Cys428ValfsTer36,ENST00000369496,;ATP1A1,downstream_gene_variant,,ENST00000418797,;ATP1A1,downstream_gene_variant,,ENST00000369494,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000608511,;ATP1A1,downstream_gene_variant,,ENST00000463382,;ATP1A1,downstream_gene_variant,,ENST00000491156,;	1733-1734	134	106	SUCCESS
KIAA0907	0	.	GRCh37	1	155896529	155896529	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	58	237	0	ENST00000368321.3:c.619C>G	p.Gln207Glu	p.Q207E	ENST00000368321	NM_014949.2	207	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS30885.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGGTGAT	NONE	.	.	hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0	.	.	ENSP00000357304	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000368321	Transcript	.	.	ENSG00000132680	29145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	deleterious(0.05)	.	K0907_HUMAN	KIAA0907	HGNC	.	.	UPI00001A36E0	SNV	KIAA0907,missense_variant,p.Gln207Glu,ENST00000368320,;KIAA0907,missense_variant,p.Gln207Glu,ENST00000368319,;KIAA0907,missense_variant,p.Gln207Glu,ENST00000368321,;SCARNA4,upstream_gene_variant,,ENST00000516999,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000482337,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000466713,;KIAA0907,upstream_gene_variant,,ENST00000483237,;KIAA0907,upstream_gene_variant,,ENST00000478002,;	643	237	236	SUCCESS
OR10K2	391107	.	GRCh37	1	158390511	158390511	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1357247573	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	48	191	0	ENST00000314902.2:c.146T>C	p.Ile49Thr	p.I49T	ENST00000314902	NM_001004476.1	49	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS30896.1	146	RADIA|MUTECT|MUSE	.	GGACAATGGTG	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF325,PROSITE_profiles:PS50262	.	.	ENSP00000324251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314902	Transcript	.	.	ENSG00000180708	14826	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.721)	.	tolerated(0.24)	.	O10K2_HUMAN	OR10K2	HGNC	.	.	UPI0000041BC2	SNV	OR10K2,missense_variant,p.Ile49Thr,ENST00000314902,;	146	192	154	SUCCESS
TEX35	84066	.	GRCh37	1	178491567	178491567	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1420133817	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	74	0	ENST00000319416.2:c.694G>A	p.Gly232Arg	p.G232R	ENST00000319416	NM_032126.4	232	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS1323.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGGAAGG	NONE	.	.	.	.	.	ENSP00000323795	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000319416	Transcript	.	.	ENSG00000240021	25366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated_low_confidence(0.09)	.	TEX35_HUMAN	TEX35	HGNC	.	.	UPI00001405CF	SNV	TEX35,missense_variant,p.Gly232Arg,ENST00000319416,;TEX35,3_prime_UTR_variant,,ENST00000367642,;TEX35,3_prime_UTR_variant,,ENST00000367641,;TEX35,intron_variant,,ENST00000258298,;TEX35,intron_variant,,ENST00000367639,;TEX35,downstream_gene_variant,,ENST00000367643,;TEX35,downstream_gene_variant,,ENST00000442872,;TEX35,intron_variant,,ENST00000419909,;	806	74	86	SUCCESS
DYRK3	8444	.	GRCh37	1	206822203	206822203	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	35	132	1	ENST00000367109.2:c.1660A>G	p.Lys554Glu	p.K554E	ENST00000367109	NM_003582.2	554	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS30999.1	1660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTAAGCTG	NONE	.	.	hmmpanther:PTHR24058:SF35,hmmpanther:PTHR24058	.	.	ENSP00000356076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367109	Transcript	.	.	ENSG00000143479	3094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	deleterious(0.03)	.	DYRK3_HUMAN	DYRK3	HGNC	.	.	UPI0000071267	SNV	DYRK3,missense_variant,p.Lys534Glu,ENST00000367106,;DYRK3,missense_variant,p.Lys534Glu,ENST00000367108,;DYRK3,missense_variant,p.Lys554Glu,ENST00000367109,;DYRK3,downstream_gene_variant,,ENST00000441486,;DYRK3,intron_variant,,ENST00000489878,;	1828	133	127	SUCCESS
OR2M2	391194	.	GRCh37	1	248343868	248343868	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	8	150	0	ENST00000359682.2:c.581T>C	p.Ile194Thr	p.I194T	ENST00000359682	NM_001004688.1	194	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS31106.1	581	MUTECT|MUSE	.	ATCAATATTTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF204,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000352710	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359682	Transcript	.	.	ENSG00000198601	8268	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.41)	.	OR2M2_HUMAN	OR2M2	HGNC	.	.	UPI00001612E4	SNV	OR2M2,missense_variant,p.Ile194Thr,ENST00000359682,;	581	150	148	SUCCESS
SPOCD1	90853	.	GRCh37	1	32256885	32256885	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	78	0	ENST00000360482.2:c.2970G>C	p.Trp990Cys	p.W990C	ENST00000360482	NM_144569.4	990	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS347.1	2970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCCAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914	.	.	ENSP00000353670	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000360482	Transcript	.	.	ENSG00000134668	26338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	tolerated(0.18)	.	SPOC1_HUMAN	SPOCD1	HGNC	E9PMX0_HUMAN,E9PKC3_HUMAN	.	UPI000035E7DD	SNV	SPOCD1,missense_variant,p.Trp990Cys,ENST00000360482,;SPOCD1,3_prime_UTR_variant,,ENST00000373648,;SPOCD1,intron_variant,,ENST00000452755,;SPOCD1,intron_variant,,ENST00000257100,;SPOCD1,intron_variant,,ENST00000533231,;SPOCD1,downstream_gene_variant,,ENST00000528579,;RP11-84A19.3,non_coding_transcript_exon_variant,,ENST00000527035,;SPOCD1,intron_variant,,ENST00000473361,;SPOCD1,downstream_gene_variant,,ENST00000485944,;SPOCD1,downstream_gene_variant,,ENST00000460061,;SPOCD1,downstream_gene_variant,,ENST00000532604,;SPOCD1,downstream_gene_variant,,ENST00000468720,;SPOCD1,downstream_gene_variant,,ENST00000531039,;	3100	78	57	SUCCESS
ARHGEF16	27237	.	GRCh37	1	3390035	3390035	+	synonymous_variant	Silent	SNP	C	C	T	rs766063142	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	84	0	ENST00000378378.4:c.1254C>T	p.Ser418=	p.S418=	ENST00000378378	NM_014448.3	418	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS46.2	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCTTCCT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF3,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000367629	.	8/15	.	.	.	.	.	.	.	.	rs766063142	8/15	PASS	ENST00000378378	Transcript	.	.	ENSG00000130762	15515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGG_HUMAN	ARHGEF16	HGNC	B0QZD3_HUMAN	.	UPI00002039A3	SNV	ARHGEF16,synonymous_variant,p.%3D,ENST00000445297,;ARHGEF16,synonymous_variant,p.%3D,ENST00000413250,;ARHGEF16,synonymous_variant,p.%3D,ENST00000378371,;ARHGEF16,synonymous_variant,p.%3D,ENST00000378378,;ARHGEF16,synonymous_variant,p.%3D,ENST00000378373,;ARHGEF16,synonymous_variant,p.%3D,ENST00000418137,;ARHGEF16,non_coding_transcript_exon_variant,,ENST00000464620,;ARHGEF16,non_coding_transcript_exon_variant,,ENST00000485984,;	1659	84	72	SUCCESS
GLIS1	148979	.	GRCh37	1	54059778	54059778	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	71	0	ENST00000312233.2:c.795+3G>C		p.X265_splice	ENST00000312233	NM_147193.2	265		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS582.1	.	RADIA|MUSE|VARSCANS	.	GAACTCACCAT	NONE	.	.	.	.	.	ENSP00000309653	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000312233	Transcript	.	.	ENSG00000174332	29525	.	.	LOW	3/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLIS1_HUMAN	GLIS1	HGNC	.	.	UPI000013F293	SNV	GLIS1,splice_region_variant,,ENST00000312233,;	.	71	66	SUCCESS
PREX1	57580	.	GRCh37	20	47317318	47317318	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	152	0	ENST00000371941.3:c.890T>G	p.Leu297Arg	p.L297R	ENST00000371941	NM_020820.3	297	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS13410.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGAAGGTTG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000361009	.	7/40	.	.	.	.	.	.	.	.	.	7/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Leu297Arg,ENST00000396220,;PREX1,missense_variant,p.Leu297Arg,ENST00000371941,;	913	152	118	SUCCESS
SLC23A2	9962	.	GRCh37	20	4854660	4854660	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	118	0	ENST00000338244.1:c.1024A>T	p.Lys342Ter	p.K342*	ENST00000338244	NM_005116.5	342	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS13085.1	1024	RADIA|MUTECT|MUSE	.	ATACTTTGTGC	NONE	.	.	hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF33,Pfam_domain:PF00860	.	.	ENSP00000368637	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000379333	Transcript	.	.	ENSG00000089057	10973	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S23A2_HUMAN	SLC23A2	HGNC	Q4ZGM1_HUMAN	.	UPI0000136292	SNV	SLC23A2,stop_gained,p.Lys99Ter,ENST00000423430,;SLC23A2,stop_gained,p.Lys342Ter,ENST00000379333,;SLC23A2,stop_gained,p.Lys228Ter,ENST00000424750,;SLC23A2,stop_gained,p.Lys342Ter,ENST00000338244,;SNORA31,downstream_gene_variant,,ENST00000516287,;SLC23A2,non_coding_transcript_exon_variant,,ENST00000496331,;SLC23A2,non_coding_transcript_exon_variant,,ENST00000468355,;	1417	118	103	SUCCESS
KRTAP27-1	643812	.	GRCh37	21	31709506	31709506	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs867048756	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	49	160	0	ENST00000382835.2:c.481T>C	p.Cys161Arg	p.C161R	ENST00000382835	NM_001077711.1	161	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS33532.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACATTGGC	NONE	.	.	hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF5,Pfam_domain:PF05287	.	.	ENSP00000372286	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382835	Transcript	.	.	ENSG00000206107	33864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.18)	.	KR271_HUMAN	KRTAP27-1	HGNC	.	.	UPI00001618F6	SNV	KRTAP27-1,missense_variant,p.Cys161Arg,ENST00000382835,;	507	160	127	SUCCESS
HLCS	3141	.	GRCh37	21	38126652	38126652	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1499	138	1823	1	ENST00000336648.4:c.2076T>C	p.Ser692=	p.S692=	ENST00000336648	NM_000411.6	692	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS13647.1	2076	MUTECT|MUSE|VARSCANS	.	AAGCCAGAATC	NONE	.	.	hmmpanther:PTHR12835,hmmpanther:PTHR12835:SF6,Pfam_domain:PF02237,TIGRFAM_domain:TIGR00121	.	.	ENSP00000382071	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000399120	Transcript	.	.	ENSG00000159267	4976	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BPL1_HUMAN	HLCS	HGNC	C9JD75_HUMAN,C9JCQ9_HUMAN	.	UPI0000126A8C	SNV	HLCS,synonymous_variant,p.%3D,ENST00000399120,;HLCS,synonymous_variant,p.%3D,ENST00000336648,;SIM2,downstream_gene_variant,,ENST00000290399,;	3307	1824	1637	SUCCESS
FBLN1	2192	.	GRCh37	22	45931160	45931160	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	122	0	ENST00000327858.6:c.865C>G	p.Arg289Gly	p.R289G	ENST00000327858	NM_006486.2	289	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS14067.1	865	MUTECT|MUSE	.	GCTGCCGACCC	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000331544	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.913)	.	deleterious(0.04)	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Arg327Gly,ENST00000402984,;FBLN1,missense_variant,p.Arg289Gly,ENST00000262722,;FBLN1,missense_variant,p.Arg289Gly,ENST00000340923,;FBLN1,missense_variant,p.Arg289Gly,ENST00000348697,;FBLN1,missense_variant,p.Arg289Gly,ENST00000327858,;FBLN1,missense_variant,p.Arg289Gly,ENST00000442170,;FBLN1,downstream_gene_variant,,ENST00000455233,;FBLN1,downstream_gene_variant,,ENST00000454279,;FBLN1,downstream_gene_variant,,ENST00000451475,;FBLN1,downstream_gene_variant,,ENST00000411478,;FBLN1,missense_variant,p.Pro165Arg,ENST00000437711,;FBLN1,non_coding_transcript_exon_variant,,ENST00000465578,;FBLN1,non_coding_transcript_exon_variant,,ENST00000460538,;FBLN1,non_coding_transcript_exon_variant,,ENST00000484531,;	960	122	108	SUCCESS
MOGAT1	116255	.	GRCh37	2	223559819	223559819	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	31	155	0	ENST00000446656.3:c.665T>G	p.Val222Gly	p.V222G	ENST00000446656	NM_058165.2	222	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS46524.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGTCCCAG	NONE	.	.	hmmpanther:PTHR12317:SF10,hmmpanther:PTHR12317,Pfam_domain:PF03982	.	.	ENSP00000406674	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000446656	Transcript	.	.	ENSG00000124003	18210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MOGT1_HUMAN	MOGAT1	HGNC	.	.	UPI000013D50F	SNV	MOGAT1,missense_variant,p.Val222Gly,ENST00000446656,;snoU13,downstream_gene_variant,,ENST00000459212,;AC016712.1,downstream_gene_variant,,ENST00000444764,;	665	155	113	SUCCESS
TRIP12	9320	.	GRCh37	2	230723842	230723842	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1438011799	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	87	0	ENST00000283943.5:c.547G>A	p.Ala183Thr	p.A183T	ENST00000283943	NM_004238.1	183	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33391.1	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCTGATT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,Low_complexity_(Seg):seg	.	.	ENSP00000283943	.	3/41	.	.	.	.	.	.	.	.	.	3/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated_low_confidence(0.14)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Ala225Thr,ENST00000543084,;TRIP12,missense_variant,p.Ala225Thr,ENST00000409677,;TRIP12,missense_variant,p.Ala225Thr,ENST00000389044,;TRIP12,missense_variant,p.Ala53Thr,ENST00000453485,;TRIP12,missense_variant,p.Ala183Thr,ENST00000283943,;TRIP12,intron_variant,,ENST00000389045,;TRIP12,downstream_gene_variant,,ENST00000343290,;TRIP12,downstream_gene_variant,,ENST00000430954,;TRIP12,downstream_gene_variant,,ENST00000428959,;TRIP12,downstream_gene_variant,,ENST00000435716,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;	726	87	80	SUCCESS
PTMA	5757	.	GRCh37	2	232574915	232574915	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	30	129	0	ENST00000341369.7:c.46-1143G>A		p.*16*	ENST00000341369	NM_001099285.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42833.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGGCGGC	NONE	.	.	.	.	.	ENSP00000344547	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,synonymous_variant,p.%3D,ENST00000410064,;PTMA,intron_variant,,ENST00000341369,;PTMA,intron_variant,,ENST00000409115,;PTMA,intron_variant,,ENST00000409321,;PTMA,intron_variant,,ENST00000409683,;PTMA,upstream_gene_variant,,ENST00000412128,;MGC4771,upstream_gene_variant,,ENST00000595658,;PTMA,upstream_gene_variant,,ENST00000440384,;PTMA,intron_variant,,ENST00000466801,;PTMA,intron_variant,,ENST00000481928,;PTMA,intron_variant,,ENST00000468027,;PTMA,intron_variant,,ENST00000448874,;PTMA,upstream_gene_variant,,ENST00000467816,;	.	129	108	SUCCESS
TMEM150A	129303	.	GRCh37	2	85827014	85827014	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs760608564	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	126	0	ENST00000334462.5:c.396G>T	p.Gln132His	p.Q132H	ENST00000334462	NM_001031738.2	132	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS33233.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCTGAAA	NONE	.	.	hmmpanther:PTHR21324:SF6,hmmpanther:PTHR21324,Pfam_domain:PF10277	.	.	ENSP00000387292	.	5/7	.	.	.	.	.	.	.	.	rs760608564	5/7	PASS	ENST00000409668	Transcript	.	.	ENSG00000168890	24677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	T150A_HUMAN	TMEM150A	HGNC	.	.	UPI000018CE98	SNV	TMEM150A,missense_variant,p.Gln132His,ENST00000334462,;TMEM150A,missense_variant,p.Gln132His,ENST00000409668,;TMEM150A,missense_variant,p.Gln79His,ENST00000306353,;RNF181,downstream_gene_variant,,ENST00000456023,;RNF181,downstream_gene_variant,,ENST00000441634,;RNF181,downstream_gene_variant,,ENST00000414390,;TMEM150A,downstream_gene_variant,,ENST00000425160,;RNF181,downstream_gene_variant,,ENST00000306368,;USP39,upstream_gene_variant,,ENST00000459775,;USP39,upstream_gene_variant,,ENST00000491659,;TMEM150A,splice_region_variant,,ENST00000444380,;TMEM150A,splice_region_variant,,ENST00000463363,;TMEM150A,splice_region_variant,,ENST00000451147,;TMEM150A,splice_region_variant,,ENST00000417791,;TMEM150A,splice_region_variant,,ENST00000431593,;TMEM150A,splice_region_variant,,ENST00000422458,;TMEM150A,downstream_gene_variant,,ENST00000455852,;TMEM150A,downstream_gene_variant,,ENST00000433956,;RNF181,downstream_gene_variant,,ENST00000461845,;RNF181,downstream_gene_variant,,ENST00000443647,;	864	126	114	SUCCESS
ATP13A3	79572	.	GRCh37	3	194150876	194150876	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs941648698	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	467	17	508	0	ENST00000256031.4:c.2702C>T	p.Ser901Leu	p.S901L	ENST00000256031	NM_024524.3	901	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43187.1	2702	MUTECT|MUSE	.	GCTCCGATAAG	NONE	.	.	hmmpanther:PTHR24093:SF249,hmmpanther:PTHR24093,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF56784	.	.	ENSP00000416508	.	26/33	.	.	.	.	.	.	.	.	.	26/33	PASS	ENST00000439040	Transcript	.	.	ENSG00000133657	24113	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.894)	.	deleterious(0)	.	AT133_HUMAN	ATP13A3	HGNC	C9JAP7_HUMAN,C9J7Z7_HUMAN	.	UPI000049DFC3	SNV	ATP13A3,missense_variant,p.Ser901Leu,ENST00000256031,;ATP13A3,missense_variant,p.Ser901Leu,ENST00000439040,;ATP13A3,upstream_gene_variant,,ENST00000429136,;ATP13A3,downstream_gene_variant,,ENST00000484023,;	3494	508	484	SUCCESS
SLC22A14	9389	.	GRCh37	3	38347652	38347652	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	180	0	ENST00000273173.4:c.135C>T	p.His45=	p.H45=	ENST00000273173	NM_004803.3	45	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS2677.1	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACACCAA	NONE	.	.	.	.	.	ENSP00000273173	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000273173	Transcript	.	.	ENSG00000144671	8495	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AE_HUMAN	SLC22A14	HGNC	F5H7H1_HUMAN	.	UPI00001AE9A8	SNV	SLC22A14,synonymous_variant,p.%3D,ENST00000273173,;SLC22A14,synonymous_variant,p.%3D,ENST00000448498,;SLC22A14,intron_variant,,ENST00000466887,;RNU6-235P,upstream_gene_variant,,ENST00000362644,;SLC22A14,non_coding_transcript_exon_variant,,ENST00000496724,;	226	180	130	SUCCESS
DALRD3	55152	.	GRCh37	3	49055466	49055466	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	51	0	ENST00000341949.4:c.451C>G	p.Arg151Gly	p.R151G	ENST00000341949	NM_001009996.2	151	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS33754.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGCAGGG	NONE	.	.	hmmpanther:PTHR16043,hmmpanther:PTHR16043:SF0	.	.	ENSP00000344989	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000341949	Transcript	.	.	ENSG00000178149	25536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious(0.02)	.	DALD3_HUMAN	DALRD3	HGNC	.	.	UPI00000622F0	SNV	DALRD3,missense_variant,p.Arg116Gly,ENST00000420952,;DALRD3,missense_variant,p.Arg151Gly,ENST00000441576,;DALRD3,missense_variant,p.Arg151Gly,ENST00000341949,;DALRD3,splice_region_variant,,ENST00000395462,;DALRD3,5_prime_UTR_variant,,ENST00000313778,;DALRD3,5_prime_UTR_variant,,ENST00000440857,;WDR6,downstream_gene_variant,,ENST00000395474,;WDR6,downstream_gene_variant,,ENST00000448293,;WDR6,downstream_gene_variant,,ENST00000415265,;NDUFAF3,upstream_gene_variant,,ENST00000326925,;NDUFAF3,upstream_gene_variant,,ENST00000326912,;DALRD3,upstream_gene_variant,,ENST00000438585,;WDR6,downstream_gene_variant,,ENST00000608424,;NDUFAF3,upstream_gene_variant,,ENST00000395458,;NDUFAF3,upstream_gene_variant,,ENST00000451378,;MIR191,downstream_gene_variant,,ENST00000384873,;MIR425,downstream_gene_variant,,ENST00000362162,;DALRD3,non_coding_transcript_exon_variant,,ENST00000496568,;DALRD3,downstream_gene_variant,,ENST00000492585,;WDR6,downstream_gene_variant,,ENST00000489684,;DALRD3,non_coding_transcript_exon_variant,,ENST00000498794,;DALRD3,non_coding_transcript_exon_variant,,ENST00000484831,;DALRD3,non_coding_transcript_exon_variant,,ENST00000460505,;WDR6,downstream_gene_variant,,ENST00000452875,;WDR6,downstream_gene_variant,,ENST00000498023,;NDUFAF3,upstream_gene_variant,,ENST00000480392,;NDUFAF3,upstream_gene_variant,,ENST00000496152,;DALRD3,upstream_gene_variant,,ENST00000481001,;WDR6,downstream_gene_variant,,ENST00000471162,;DALRD3,upstream_gene_variant,,ENST00000467457,;DALRD3,upstream_gene_variant,,ENST00000472331,;DALRD3,upstream_gene_variant,,ENST00000498498,;WDR6,downstream_gene_variant,,ENST00000492780,;WDR6,downstream_gene_variant,,ENST00000420783,;	458	51	39	SUCCESS
DNAH1	25981	.	GRCh37	3	52392602	52392602	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374644342	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	46	150	0	ENST00000420323.2:c.4115C>G	p.Thr1372Arg	p.T1372R	ENST00000420323	NM_015512.4	1372	aCg/aGg	0	T:0.0002	.	.	.	.	G	T/R	protein_coding	YES	CCDS46842.1	4115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACGCACA	NONE	byCluster	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	T:0	ENSP00000401514	.	25/78	.	.	.	.	.	.	.	.	rs374644342	25/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Thr1372Arg,ENST00000420323,;DNAH1,upstream_gene_variant,,ENST00000466628,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,downstream_gene_variant,,ENST00000497875,;	4376	151	140	SUCCESS
KCTD6	200845	.	GRCh37	3	58484242	58484242	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	2	14	0	ENST00000355076.6:c.-241A>G		p.*81*	ENST00000355076	NM_153331.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2891.1	.	MUTECT|MUSE	.	TCTCTATGGTA	NONE	.	.	.	.	.	ENSP00000347188	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000355076	Transcript	.	.	ENSG00000168301	22235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCTD6_HUMAN	KCTD6	HGNC	F5H7I0_HUMAN	.	UPI00000717C0	SNV	KCTD6,5_prime_UTR_variant,,ENST00000355076,;KCTD6,intron_variant,,ENST00000490264,;KCTD6,intron_variant,,ENST00000404589,;KCTD6,intron_variant,,ENST00000479179,;KCTD6,intron_variant,,ENST00000491093,;KCTD6,non_coding_transcript_exon_variant,,ENST00000479470,;	743	14	8	SUCCESS
BBS7	55212	.	GRCh37	4	122791584	122791584	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	130	0	ENST00000264499.4:c.-116G>T		p.*39*	ENST00000264499	NM_176824.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3724.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGCCCCAGCT	NONE	.	.	.	.	.	ENSP00000264499	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000264499	Transcript	1	.	ENSG00000138686	18758	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BBS7_HUMAN	BBS7	HGNC	H0Y973_HUMAN	.	UPI00001684D7	SNV	BBS7,5_prime_UTR_variant,,ENST00000264499,;BBS7,5_prime_UTR_variant,,ENST00000506636,;RP11-63B13.1,upstream_gene_variant,,ENST00000567769,;BBS7,non_coding_transcript_exon_variant,,ENST00000502444,;	69	130	106	SUCCESS
GPM6A	2823	.	GRCh37	4	176556177	176556177	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	72	0	ENST00000280187.7:c.716G>T	p.Trp239Leu	p.W239L	ENST00000280187	NM_005277.4	239	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS3824.1	716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCAGTTG	NONE	.	.	hmmpanther:PTHR11683:SF4,hmmpanther:PTHR11683,Pfam_domain:PF01275	.	.	ENSP00000280187	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000280187	Transcript	.	.	ENSG00000150625	4460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	GPM6A_HUMAN	GPM6A	HGNC	Q49AH3_HUMAN,D6RIF4_HUMAN,D6RFZ3_HUMAN,D6RFY0_HUMAN,D6REJ8_HUMAN,D6RD95_HUMAN,D6RBM6_HUMAN,D6RBH3_HUMAN,D6RAE4_HUMAN,D6R9T7_HUMAN	.	UPI000012EAE1	SNV	GPM6A,missense_variant,p.Trp239Leu,ENST00000280187,;GPM6A,missense_variant,p.Trp232Leu,ENST00000515090,;GPM6A,missense_variant,p.Trp228Leu,ENST00000506894,;GPM6A,missense_variant,p.Trp239Leu,ENST00000393658,;GPM6A,non_coding_transcript_exon_variant,,ENST00000506219,;GPM6A,non_coding_transcript_exon_variant,,ENST00000508323,;GPM6A,non_coding_transcript_exon_variant,,ENST00000507080,;	762	72	67	SUCCESS
PTPN13	5783	.	GRCh37	4	87610344	87610344	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	131	0	ENST00000411767.2:c.546+1G>T		p.X182_splice	ENST00000411767		182		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47093.1	.	MUTECT|MUSE	.	CTGGGGTAAGC	NONE	.	.	.	.	.	ENSP00000394794	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	HIGH	5/47	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,splice_donor_variant,,ENST00000411767,;PTPN13,splice_donor_variant,,ENST00000436978,;PTPN13,splice_donor_variant,,ENST00000316707,;PTPN13,splice_donor_variant,,ENST00000511467,;PTPN13,splice_donor_variant,,ENST00000502971,;PTPN13,splice_donor_variant,,ENST00000427191,;PTPN13,downstream_gene_variant,,ENST00000507902,;	.	132	103	SUCCESS
CAMLG	819	.	GRCh37	5	134076873	134076873	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	63	234	0	ENST00000297156.2:c.293A>T	p.Gln98Leu	p.Q98L	ENST00000297156	NM_001745.3	98	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4178.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAGCAGG	NONE	.	.	hmmpanther:PTHR15026,Pfam_domain:PF14963,PIRSF_domain:PIRSF018259	.	.	ENSP00000297156	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297156	Transcript	.	.	ENSG00000164615	1471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.42)	.	CAMLG_HUMAN	CAMLG	HGNC	.	.	UPI0000126E88	SNV	CAMLG,missense_variant,p.Gln98Leu,ENST00000297156,;CAMLG,intron_variant,,ENST00000514518,;	413	234	226	SUCCESS
PCDHGB1	56104	.	GRCh37	5	140731303	140731303	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	129	0	ENST00000523390.1:c.1476G>A	p.Leu492=	p.L492=	ENST00000523390	NM_018922.2	492	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54923.1	1476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGGAGCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429273	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000523390	Transcript	.	.	ENSG00000254221	8708	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGD_HUMAN	PCDHGB1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073588	SNV	PCDHGB1,synonymous_variant,p.%3D,ENST00000523390,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA4,upstream_gene_variant,,ENST00000571252,;	1476	129	100	SUCCESS
SLIT3	6586	.	GRCh37	5	168135071	168135071	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	59	251	0	ENST00000519560.1:c.2754T>C	p.Asn918=	p.N918=	ENST00000519560	NM_003062.3	918	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS4369.1	2754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCATTGCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:2.10.25.10,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000430333	.	26/36	.	.	.	.	.	.	.	.	.	26/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;CTC-558O2.1,non_coding_transcript_exon_variant,,ENST00000522615,;CTC-558O2.1,intron_variant,,ENST00000521870,;	3174	251	209	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178634533	178634533	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	69	0	ENST00000251582.7:c.872T>C	p.Leu291Pro	p.L291P	ENST00000251582	NM_014244.4	291	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4444.1	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAGGTAC	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01421,Gene3D:3.40.390.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50215	.	.	ENSP00000251582	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,missense_variant,p.Leu291Pro,ENST00000274609,;ADAMTS2,missense_variant,p.Leu291Pro,ENST00000251582,;	974	69	67	SUCCESS
IRX4	50805	.	GRCh37	5	1878600	1878600	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	43	0	ENST00000231357.2:c.1043A>T	p.Glu348Val	p.E348V	ENST00000231357	NM_016358.2	348	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3867.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTCGCAG	NONE	.	.	hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious(0.02)	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,missense_variant,p.Glu348Val,ENST00000231357,;IRX4,missense_variant,p.Glu348Val,ENST00000513692,;IRX4,missense_variant,p.Glu348Val,ENST00000505790,;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	1500	43	29	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60839733	60839733	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	11	129	0	ENST00000252744.5:c.3237C>T	p.Ser1079=	p.S1079=	ENST00000252744	NM_020928.1	1079	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47215.1	3237	RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGCCACTC	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,synonymous_variant,p.%3D,ENST00000252744,;	3237	129	95	SUCCESS
GPR98	0	.	GRCh37	5	90106847	90106847	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	48	249	0	ENST00000405460.2:c.15770T>C	p.Ile5257Thr	p.I5257T	ENST00000405460	NM_032119.3	5257	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47246.1	15770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATAACAG	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	74/90	.	.	.	.	.	.	.	.	.	74/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ile5257Thr,ENST00000405460,;GPR98,missense_variant,p.Ile918Thr,ENST00000425867,;GPR98,downstream_gene_variant,,ENST00000513828,;	15866	249	207	SUCCESS
RFESD	317671	.	GRCh37	5	94988893	94988893	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	85	0	ENST00000311364.4:c.-2+858A>T		p.*1*	ENST00000311364	NM_173362.3	45		0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS47248.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCATCTCA	NONE	.	.	.	.	.	ENSP00000413592	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000458310	Transcript	.	.	ENSG00000175449	29587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious_low_confidence(0.01)	.	RFESD_HUMAN	RFESD	HGNC	D6RBY0_HUMAN	.	UPI000066D9FA	SNV	RFESD,missense_variant,p.Ile45Phe,ENST00000458310,;RFESD,missense_variant,p.Ile45Phe,ENST00000380005,;RFESD,intron_variant,,ENST00000311364,;RFESD,intron_variant,,ENST00000511684,;RFESD,upstream_gene_variant,,ENST00000513950,;SPATA9,non_coding_transcript_exon_variant,,ENST00000477047,;RFESD,upstream_gene_variant,,ENST00000508206,;SPATA9,3_prime_UTR_variant,,ENST00000316087,;SPATA9,3_prime_UTR_variant,,ENST00000477715,;RFESD,downstream_gene_variant,,ENST00000506212,;RFESD,downstream_gene_variant,,ENST00000504893,;	1464	85	66	SUCCESS
TSPYL1	7259	.	GRCh37	6	116600549	116600549	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	34	0	ENST00000368608.3:c.445G>C	p.Glu149Gln	p.E149Q	ENST00000368608	NM_003309.3	149	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34518.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCCGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11875:SF57,hmmpanther:PTHR11875	.	.	ENSP00000357597	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368608	Transcript	.	.	ENSG00000189241	12382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.06)	.	TSYL1_HUMAN	TSPYL1	HGNC	.	.	UPI000006EE16	SNV	TSPYL1,missense_variant,p.Glu149Gln,ENST00000368608,;DSE,intron_variant,,ENST00000540275,;DSE,intron_variant,,ENST00000430252,;DSE,upstream_gene_variant,,ENST00000452085,;RP1-93H18.1,upstream_gene_variant,,ENST00000453463,;RP1-93H18.1,upstream_gene_variant,,ENST00000449314,;DSE,non_coding_transcript_exon_variant,,ENST00000607094,;	518	34	24	SUCCESS
EPM2A	7957	.	GRCh37	6	146056357	146056357	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1239406349	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	547	251	1002	1	ENST00000367519.3:c.278C>T	p.Pro93Leu	p.P93L	ENST00000367519	NM_005670.3	93	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5206.1	278	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGCTCC	NONE	.	.	PROSITE_profiles:PS51166,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF48,Pfam_domain:PF00686,Gene3D:2.60.40.10,SMART_domains:SM01065,Superfamily_domains:SSF49452	.	.	ENSP00000356489	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000367519	Transcript	.	.	ENSG00000112425	3413	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	tolerated(0.29)	.	EPM2A_HUMAN	EPM2A	HGNC	H0UI04_HUMAN	.	UPI000006E60E	SNV	EPM2A,missense_variant,p.Pro93Leu,ENST00000367519,;EPM2A,missense_variant,p.Pro13Leu,ENST00000435470,;RP3-466P17.2,downstream_gene_variant,,ENST00000603042,;RP3-466P17.1,upstream_gene_variant,,ENST00000603994,;	804	1004	798	SUCCESS
CCR6	1235	.	GRCh37	6	167549735	167549735	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	77	0	ENST00000341935.5:c.17T>C	p.Met6Thr	p.M6T	ENST00000341935	NM_031409.3	6	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS5298.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAATGAATT	NONE	.	.	hmmpanther:PTHR24227:SF24,hmmpanther:PTHR24227	.	.	ENSP00000343952	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341935	Transcript	.	.	ENSG00000112486	1607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.31)	.	CCR6_HUMAN	CCR6	HGNC	.	.	UPI00000008CE	SNV	CCR6,missense_variant,p.Met6Thr,ENST00000341935,;CCR6,missense_variant,p.Met6Thr,ENST00000400926,;CCR6,missense_variant,p.Met6Thr,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	569	77	87	SUCCESS
PHIP	55023	.	GRCh37	6	79727292	79727292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	98	343	0	ENST00000275034.4:c.1003T>C	p.Phe335Leu	p.F335L	ENST00000275034	NM_017934.5	335	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS4987.1	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAACATTC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000275034	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.02)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Phe335Leu,ENST00000275034,;	1171	343	346	SUCCESS
PAX4	5078	.	GRCh37	7	127255352	127255352	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	42	0	ENST00000341640.2:c.120+103T>A		p.*40*	ENST00000341640	NM_006193.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5797.1	.	MUTECT|MUSE	.	GTCCCAGAAGC	NONE	.	.	.	.	.	ENSP00000339906	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341640	Transcript	.	.	ENSG00000106331	8618	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,5_prime_UTR_variant,,ENST00000463946,;PAX4,intron_variant,,ENST00000338516,;PAX4,intron_variant,,ENST00000378740,;PAX4,intron_variant,,ENST00000341640,;PAX4,5_prime_UTR_variant,,ENST00000483494,;PAX4,upstream_gene_variant,,ENST00000477423,;	.	42	26	SUCCESS
SSPO	0	.	GRCh37	7	149494390	149494390	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	75	0	ENST00000378016.2:n.6861C>A		p.*2287*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCTCCTC	NONE	.	.	.	.	.	.	.	46/109	.	.	.	.	.	.	.	.	.	46/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000472797,;SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,upstream_gene_variant,,ENST00000484709,;SSPO,downstream_gene_variant,,ENST00000262089,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	6861	75	87	SUCCESS
POLD2	5425	.	GRCh37	7	44161504	44161504	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	48	166	0	ENST00000406581.2:c.149A>G	p.Tyr50Cys	p.Y50C	ENST00000406581	NM_001256879.1	50	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5477.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATACTGC	NONE	.	.	hmmpanther:PTHR10416:SF0,hmmpanther:PTHR10416	.	.	ENSP00000386105	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000406581	Transcript	.	.	ENSG00000106628	9176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DPOD2_HUMAN	POLD2	HGNC	C9JLE1_HUMAN,C9J8Z7_HUMAN,C9IZD2_HUMAN,A4D2J4_HUMAN	.	UPI000004D0E7	SNV	POLD2,missense_variant,p.Tyr50Cys,ENST00000406581,;POLD2,missense_variant,p.Tyr50Cys,ENST00000223361,;POLD2,missense_variant,p.Tyr50Cys,ENST00000433715,;POLD2,missense_variant,p.Tyr50Cys,ENST00000456038,;POLD2,missense_variant,p.Tyr50Cys,ENST00000452185,;POLD2,missense_variant,p.Tyr50Cys,ENST00000418438,;POLD2,missense_variant,p.Tyr50Cys,ENST00000436844,;RNA5SP230,downstream_gene_variant,,ENST00000517039,;POLD2,downstream_gene_variant,,ENST00000481763,;POLD2,non_coding_transcript_exon_variant,,ENST00000463464,;POLD2,non_coding_transcript_exon_variant,,ENST00000496539,;POLD2,non_coding_transcript_exon_variant,,ENST00000470867,;POLD2,non_coding_transcript_exon_variant,,ENST00000461116,;POLD2,upstream_gene_variant,,ENST00000481104,;POLD2,upstream_gene_variant,,ENST00000467469,;POLD2,upstream_gene_variant,,ENST00000464871,;	799	167	179	SUCCESS
CSMD3	114788	.	GRCh37	8	113812406	113812406	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	110	0	ENST00000297405.5:c.1957A>G	p.Lys653Glu	p.K653E	ENST00000297405	NM_198123.1	653	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS6315.1	1957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTTGAAAC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	13/71	.	.	.	.	.	.	.	.	.	13/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.05)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Lys653Glu,ENST00000352409,;CSMD3,missense_variant,p.Lys549Glu,ENST00000455883,;CSMD3,missense_variant,p.Lys653Glu,ENST00000297405,;CSMD3,missense_variant,p.Lys613Glu,ENST00000343508,;	2202	110	108	SUCCESS
LRRC6	0	.	GRCh37	8	133645068	133645068	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	41	144	0	ENST00000250173.1:c.571C>A	p.His191Asn	p.H191N	ENST00000250173		191	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS6365.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGTTTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10588:SF114,hmmpanther:PTHR10588	.	.	ENSP00000250173	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000250173	Transcript	1	.	ENSG00000129295	16725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.5)	.	TILB_HUMAN	LRRC6	HGNC	.	.	UPI000000DBC5	SNV	LRRC6,missense_variant,p.His191Asn,ENST00000519595,;LRRC6,missense_variant,p.His191Asn,ENST00000518642,;LRRC6,missense_variant,p.His191Asn,ENST00000250173,;LRRC6,intron_variant,,ENST00000523503,;LRRC6,intron_variant,,ENST00000520446,;	645	145	121	SUCCESS
NRBP2	340371	.	GRCh37	8	144917875	144917876	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AGGCGGCCAGCTTCAT	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	106	10	162	0	ENST00000442628.2:c.1447_1462dup	p.Phe488TyrfsTer95	p.F488Yfs*95	ENST00000442628	NM_178564.3	488	ttc/tATGAAGCTGGCCGCCTtc	0	.	.	.	.	.	AGGCGGCCAGCTTCAT	F/YEAGRLX	protein_coding	YES	CCDS34959.2	1462-1463	INDELOCATOR|VARSCANI	.	CCAGGAAGGCG	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53	.	.	ENSP00000414055	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000442628	Transcript	.	.	ENSG00000185189	19339	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRBP2_HUMAN	NRBP2	HGNC	E9PR11_HUMAN,D3DWK9_HUMAN	.	UPI00017A7042	insertion	NRBP2,stop_gained,p.Pro81Ter,ENST00000530123,;NRBP2,frameshift_variant,p.Phe488TyrfsTer95,ENST00000442628,;NRBP2,frameshift_variant,p.Phe245TyrfsTer95,ENST00000327830,;NRBP2,downstream_gene_variant,,ENST00000530347,;RP11-299M14.2,upstream_gene_variant,,ENST00000534006,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533846,;NRBP2,non_coding_transcript_exon_variant,,ENST00000527545,;NRBP2,non_coding_transcript_exon_variant,,ENST00000529747,;NRBP2,non_coding_transcript_exon_variant,,ENST00000531729,;NRBP2,non_coding_transcript_exon_variant,,ENST00000423469,;NRBP2,non_coding_transcript_exon_variant,,ENST00000532940,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;	1602-1603	162	116	SUCCESS
TNFRSF10A	8797	.	GRCh37	8	23069654	23069654	+	synonymous_variant	Silent	SNP	G	G	A	rs148868243	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	65	201	0	ENST00000221132.3:c.378C>T	p.Ser126=	p.S126=	ENST00000221132	NM_003844.3	126	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6039.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	AAAGGGCTATG	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF41,Gene3D:2.10.50.10,PIRSF_domain:PIRSF037867,Superfamily_domains:SSF57586	.	.	ENSP00000221132	.	2/10	.	.	.	.	.	.	.	.	rs148868243,COSM107530	2/10	PASS	ENST00000221132	Transcript	.	.	ENSG00000104689	11904	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	.	.	.	1,1	TR10A_HUMAN	TNFRSF10A	HGNC	E5RFH1_HUMAN	.	UPI000013C7A8	SNV	TNFRSF10A,synonymous_variant,p.%3D,ENST00000221132,;TNFRSF10A,5_prime_UTR_variant,,ENST00000524158,;RP11-1149O23.1,downstream_gene_variant,,ENST00000498163,;	443	201	212	SUCCESS
TNFRSF10A	8797	.	GRCh37	8	23069655	23069655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	64	202	0	ENST00000221132.3:c.377G>T	p.Ser126Ile	p.S126I	ENST00000221132	NM_003844.3	126	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS6039.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGCTATGT	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF41,Gene3D:2.10.50.10,PIRSF_domain:PIRSF037867,Superfamily_domains:SSF57586	.	.	ENSP00000221132	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000221132	Transcript	.	.	ENSG00000104689	11904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	TR10A_HUMAN	TNFRSF10A	HGNC	E5RFH1_HUMAN	.	UPI000013C7A8	SNV	TNFRSF10A,missense_variant,p.Ser126Ile,ENST00000221132,;TNFRSF10A,5_prime_UTR_variant,,ENST00000524158,;RP11-1149O23.1,downstream_gene_variant,,ENST00000498163,;	442	202	215	SUCCESS
SLC34A3	142680	.	GRCh37	9	140126558	140126558	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	36	147	0	ENST00000361134.2:c.120G>T	p.Gly40=	p.G40=	ENST00000361134	NM_080877.2	40	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7038.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGGACAC	NONE	.	.	hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF22	.	.	ENSP00000442397	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000538474	Transcript	.	.	ENSG00000198569	20305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT2C_HUMAN	SLC34A3	HGNC	D9N3A0_HUMAN	.	UPI00004577EA	SNV	SLC34A3,synonymous_variant,p.%3D,ENST00000361134,;SLC34A3,synonymous_variant,p.%3D,ENST00000538474,;RNF224,downstream_gene_variant,,ENST00000445101,;	344	147	138	SUCCESS
NRARP	441478	.	GRCh37	9	140196211	140196211	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	107	0	ENST00000356628.2:c.170A>G	p.Gln57Arg	p.Q57R	ENST00000356628	NM_001004354.2	57	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS35188.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACTGGTGC	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24203,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000349041	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356628	Transcript	.	.	ENSG00000198435	33843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	tolerated(0.05)	.	NRARP_HUMAN	NRARP	HGNC	.	.	UPI00000E7AD0	SNV	NRARP,missense_variant,p.Gln57Arg,ENST00000356628,;	493	107	82	SUCCESS
ARRDC1	92714	.	GRCh37	9	140509175	140509175	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	69	0	ENST00000371421.4:c.960G>A	p.Glu320=	p.E320=	ENST00000371421	NM_152285.2	320	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7049.1	960	MUTECT|MUSE	.	GCTGAGGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF11	.	.	ENSP00000360475	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000371421	Transcript	.	.	ENSG00000197070	28633	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARRD1_HUMAN	ARRDC1	HGNC	.	.	UPI0000072A1F	SNV	ARRDC1,synonymous_variant,p.%3D,ENST00000371421,;EHMT1,upstream_gene_variant,,ENST00000334856,;ARRDC1,downstream_gene_variant,,ENST00000431925,;EHMT1,upstream_gene_variant,,ENST00000462484,;ARRDC1,downstream_gene_variant,,ENST00000419386,;C9orf37,downstream_gene_variant,,ENST00000371417,;EHMT1,upstream_gene_variant,,ENST00000460843,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000491911,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000475658,;EHMT1,upstream_gene_variant,,ENST00000371394,;ARRDC1,downstream_gene_variant,,ENST00000471125,;ARRDC1,downstream_gene_variant,,ENST00000466367,;ARRDC1,downstream_gene_variant,,ENST00000495220,;ARRDC1,downstream_gene_variant,,ENST00000483563,;ARRDC1,downstream_gene_variant,,ENST00000497877,;ARRDC1,downstream_gene_variant,,ENST00000468983,;C9orf37,downstream_gene_variant,,ENST00000496793,;ARRDC1,downstream_gene_variant,,ENST00000461627,;	1024	69	54	SUCCESS
IRS4	8471	.	GRCh37	X	107977611	107977611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	7	229	0	ENST00000372129.2:c.1964T>A	p.Leu655His	p.L655H	ENST00000372129	NM_003604.2	655	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS14544.1	1964	MUTECT|MUSE	.	AATAAAGTCTG	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Leu655His,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	2041	229	178	SUCCESS
AIFM1	9131	.	GRCh37	X	129270694	129270694	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	53	169	0	ENST00000287295.3:c.1088T>A	p.Val363Glu	p.V363E	ENST00000287295	NM_004208.3	363	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS14618.1	1088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCACCTTA	NONE	.	.	hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF33,Gene3D:3.50.50.60,Pfam_domain:PF00070,Pfam_domain:PF07992,Superfamily_domains:SSF51905	.	.	ENSP00000287295	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000287295	Transcript	.	.	ENSG00000156709	8768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	AIFM1_HUMAN	AIFM1	HGNC	E9PMA0_HUMAN	.	UPI00001313DB	SNV	AIFM1,missense_variant,p.Val11Glu,ENST00000440263,;AIFM1,missense_variant,p.Val359Glu,ENST00000319908,;AIFM1,missense_variant,p.Val363Glu,ENST00000287295,;AIFM1,missense_variant,p.Val24Glu,ENST00000460436,;AIFM1,missense_variant,p.Val76Glu,ENST00000346424,;AIFM1,3_prime_UTR_variant,,ENST00000535724,;AIFM1,3_prime_UTR_variant,,ENST00000416073,;AIFM1,3_prime_UTR_variant,,ENST00000527892,;AIFM1,non_coding_transcript_exon_variant,,ENST00000533719,;	1319	169	175	SUCCESS
FMR1	2332	.	GRCh37	X	147014109	147014109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	435	188	654	0	ENST00000370475.4:c.796G>A	p.Gly266Arg	p.G266R	ENST00000370475	NM_002024.5	266	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14682.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATGGAGAG	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10603:SF4,hmmpanther:PTHR10603,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000359506	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000370475	Transcript	.	.	ENSG00000102081	3775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FMR1_HUMAN	FMR1	HGNC	.	.	UPI000012AACA	SNV	FMR1,missense_variant,p.Gly266Arg,ENST00000218200,;FMR1,missense_variant,p.Gly266Arg,ENST00000370475,;FMR1,missense_variant,p.Gly266Arg,ENST00000370471,;FMR1,missense_variant,p.Gly266Arg,ENST00000334557,;FMR1,missense_variant,p.Gly266Arg,ENST00000370470,;FMR1,missense_variant,p.Gly266Arg,ENST00000370477,;FMR1,missense_variant,p.Gly266Arg,ENST00000439526,;FMR1,5_prime_UTR_variant,,ENST00000440235,;FMR1,non_coding_transcript_exon_variant,,ENST00000495717,;FMR1,non_coding_transcript_exon_variant,,ENST00000475038,;	924	654	624	SUCCESS
CXorf30	0	.	GRCh37	X	36317241	36317241	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	400	168	679	0	ENST00000378657.4:c.174A>T	p.Pro58=	p.P58=	ENST00000378657	NM_001098843.4	58	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS55396.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGCAAC	NONE	.	.	hmmpanther:PTHR23053:SF7,hmmpanther:PTHR23053	.	.	ENSP00000367926	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000378657	Transcript	.	.	ENSG00000205081	27298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,synonymous_variant,p.%3D,ENST00000378657,;CXorf30,synonymous_variant,p.%3D,ENST00000378653,;	822	679	568	SUCCESS
ZNF81	347344	.	GRCh37	X	47705521	47705521	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs116316712	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	32	0	ENST00000338637.7:c.-146C>T		p.*49*	ENST00000338637	NM_007137.3			0	.	T:0.0265	.	T:0.0029	.	T	.	protein_coding	YES	CCDS43933.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCGGAGT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000366153	T:0	3/6	.	.	.	.	.	.	.	.	rs116316712	3/6	PASS	ENST00000376954	Transcript	.	T:0.0098	ENSG00000197779	13156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ZNF81_HUMAN	ZNF81	HGNC	.	.	UPI000023FCDA	SNV	ZNF81,5_prime_UTR_variant,,ENST00000334937,;ZNF81,5_prime_UTR_variant,,ENST00000338637,;ZNF81,5_prime_UTR_variant,,ENST00000376954,;ZNF81,5_prime_UTR_variant,,ENST00000376950,;ZNF81,upstream_gene_variant,,ENST00000483520,;RPL7P57,upstream_gene_variant,,ENST00000423238,;	223	32	42	SUCCESS
TRDMT1	1787	.	GRCh37	10	17204235	17204235	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs780057128	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	29	183	1	ENST00000377799.3:c.253A>G	p.Ile85Val	p.I85V	ENST00000377799	NM_004412.5	85	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7114.1	253	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATCCTAA	NONE	byFrequency	.	PROSITE_profiles:PS51679,hmmpanther:PTHR10629,Gene3D:3.40.50.150,Pfam_domain:PF00145,TIGRFAM_domain:TIGR00675,Superfamily_domains:SSF53335	.	.	ENSP00000367030	.	4/11	.	.	.	.	.	.	.	.	rs780057128	4/11	PASS	ENST00000377799	Transcript	.	.	ENSG00000107614	2977	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.19)	.	tolerated(0.33)	.	TRDMT_HUMAN	TRDMT1	HGNC	Q6ICS7_HUMAN	.	UPI0000129698	SNV	TRDMT1,missense_variant,p.Ile26Val,ENST00000457442,;TRDMT1,missense_variant,p.Ile85Val,ENST00000377799,;TRDMT1,intron_variant,,ENST00000358282,;TRDMT1,intron_variant,,ENST00000436968,;TRDMT1,intron_variant,,ENST00000377766,;TRDMT1,intron_variant,,ENST00000313936,;TRDMT1,intron_variant,,ENST00000488990,;TRDMT1,intron_variant,,ENST00000412821,;TRDMT1,intron_variant,,ENST00000525762,;TRDMT1,intron_variant,,ENST00000351358,;TRDMT1,splice_region_variant,,ENST00000452380,;TRDMT1,missense_variant,p.Asp59Gly,ENST00000495022,;TRDMT1,splice_region_variant,,ENST00000354631,;TRDMT1,intron_variant,,ENST00000424636,;	301	185	144	SUCCESS
HK1	3098	.	GRCh37	10	71078635	71078635	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	20	98	0	ENST00000359426.6:c.-69C>A		p.*23*	ENST00000359426	NM_000188.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7289.1	.	RADIA|MUTECT|MUSE	.	AGGACCACGGC	NONE	.	.	.	.	.	ENSP00000384774	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404387	Transcript	1	.	ENSG00000156515	4922	.	.	MODIFIER	2/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HXK1_HUMAN	HK1	HGNC	P78542_HUMAN,B1AR61_HUMAN	.	UPI000013E945	SNV	HK1,5_prime_UTR_variant,,ENST00000359426,;HK1,intron_variant,,ENST00000436817,;HK1,intron_variant,,ENST00000448642,;HK1,intron_variant,,ENST00000450646,;HK1,intron_variant,,ENST00000360289,;HK1,intron_variant,,ENST00000298649,;HK1,intron_variant,,ENST00000421088,;HK1,intron_variant,,ENST00000404387,;HK1,intron_variant,,ENST00000483077,;HK1,intron_variant,,ENST00000480047,;HK1,intron_variant,,ENST00000476368,;HK1,intron_variant,,ENST00000483054,;HK1,intron_variant,,ENST00000464803,;HK1,upstream_gene_variant,,ENST00000493591,;	.	99	103	SUCCESS
C10orf54	0	.	GRCh37	10	73521753	73521753	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758679492	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	53	0	ENST00000394957.3:c.113C>T	p.Pro38Leu	p.P38L	ENST00000394957	NM_022153.1	38	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31218.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACGGCGTG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF66,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000378409	.	2/7	.	.	.	.	.	.	.	.	rs758679492	2/7	PASS	ENST00000394957	Transcript	.	.	ENSG00000107738	30085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.08)	.	GI24_HUMAN	C10orf54	HGNC	.	.	UPI000004781D	SNV	C10orf54,missense_variant,p.Pro38Leu,ENST00000394957,;CDH23,intron_variant,,ENST00000224721,;C10orf54,upstream_gene_variant,,ENST00000470317,;C10orf54,upstream_gene_variant,,ENST00000481568,;	172	53	48	SUCCESS
TUBB8	347688	.	GRCh37	10	94840	94840	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	20	0	ENST00000309812.4:c.70A>G	p.Ile24Val	p.I24V	ENST00000309812	NM_177987.2	24	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7051.1	70	MUTECT|MUSE|VARSCANS	.	AGAGATCACCT	NONE	.	.	Prints_domain:PR01161,Superfamily_domains:SSF52490,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.065)	.	tolerated_low_confidence(0.09)	.	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,missense_variant,p.Ile24Val,ENST00000309812,;TUBB8,5_prime_UTR_variant,,ENST00000447903,;TUBB8,intron_variant,,ENST00000332708,;TUBB8,non_coding_transcript_exon_variant,,ENST00000413237,;TUBB8,non_coding_transcript_exon_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	133	20	20	SUCCESS
AP2A2	161	.	GRCh37	11	1000560	1000560	+	synonymous_variant	Silent	SNP	C	C	T	rs376836623	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	32	0	ENST00000448903.2:c.2085C>T	p.Val695=	p.V695=	ENST00000448903	NM_012305.3	695	gtC/gtT	0	T:0.0003	.	.	.	.	T	V	protein_coding	YES	CCDS44512.1	2085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCGCGCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,PIRSF_domain:PIRSF037091	.	T:0.0001	ENSP00000413234	.	15/22	.	.	.	.	.	.	.	.	rs376836623	15/22	PASS	ENST00000448903	Transcript	.	.	ENSG00000183020	562	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2A2_HUMAN	AP2A2	HGNC	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN	.	UPI0000124FF5	SNV	AP2A2,synonymous_variant,p.%3D,ENST00000332231,;AP2A2,synonymous_variant,p.%3D,ENST00000448903,;AP2A2,intron_variant,,ENST00000534328,;AP2A2,non_coding_transcript_exon_variant,,ENST00000525891,;AP2A2,upstream_gene_variant,,ENST00000529438,;AP2A2,downstream_gene_variant,,ENST00000528195,;AP2A2,intron_variant,,ENST00000528815,;AP2A2,upstream_gene_variant,,ENST00000526401,;AP2A2,upstream_gene_variant,,ENST00000526376,;	2226	32	24	SUCCESS
ATM	472	.	GRCh37	11	108199941	108199941	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	342	39	400	0	ENST00000278616.4:c.7283G>C	p.Arg2428Thr	p.R2428T	ENST00000278616	NM_000051.3	2428	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS31669.1	7283	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTAGGGAAC	BUFFER|p.L2427P|c.7280T>C|4,BUFFER|p.L2427P|c.7280T>C|5	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF02259,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS51189	.	.	ENSP00000278616	.	49/63	.	.	.	.	.	.	.	.	.	49/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.217)	.	tolerated(0.1)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Arg2428Thr,ENST00000452508,;ATM,missense_variant,p.Arg2428Thr,ENST00000278616,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,downstream_gene_variant,,ENST00000524755,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,non_coding_transcript_exon_variant,,ENST00000527389,;ATM,non_coding_transcript_exon_variant,,ENST00000525537,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000525056,;C11orf65,downstream_gene_variant,,ENST00000527531,;	7668	400	382	SUCCESS
BACE1	23621	.	GRCh37	11	117162462	117162462	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	12	112	0	ENST00000313005.6:c.908A>C	p.Glu303Ala	p.E303A	ENST00000313005	NM_138971.3	303	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS8383.1	908	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTCAAAC	NONE	.	.	hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF245,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	.	.	ENSP00000318585	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000313005	Transcript	.	.	ENSG00000186318	933	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.054)	.	tolerated(0.29)	.	BACE1_HUMAN	BACE1	HGNC	U3KPS1_HUMAN,H0YDX0_HUMAN	.	UPI000013F419	SNV	BACE1,missense_variant,p.Glu178Ala,ENST00000510630,;BACE1,missense_variant,p.Glu259Ala,ENST00000445823,;BACE1,missense_variant,p.Glu303Ala,ENST00000313005,;BACE1,missense_variant,p.Glu234Ala,ENST00000428381,;BACE1,missense_variant,p.Glu203Ala,ENST00000392937,;BACE1,missense_variant,p.Glu278Ala,ENST00000513780,;BACE1,intron_variant,,ENST00000528053,;BACE1,downstream_gene_variant,,ENST00000504995,;BACE1,downstream_gene_variant,,ENST00000510915,;BACE1,downstream_gene_variant,,ENST00000514464,;BACE1,non_coding_transcript_exon_variant,,ENST00000530824,;BACE1,non_coding_transcript_exon_variant,,ENST00000509916,;	1369	112	113	SUCCESS
ASCL2	430	.	GRCh37	11	2291265	2291265	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1476096121	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	21	0	ENST00000331289.4:c.298C>G	p.Arg100Gly	p.R100G	ENST00000331289	NM_005170.2	100	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS7732.1	298	MUTECT|MUSE	.	CGCGCGGATGT	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR13935:SF49,hmmpanther:PTHR13935,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000332293	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331289	Transcript	.	.	ENSG00000183734	739	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ASCL2_HUMAN	ASCL2	HGNC	.	.	UPI0000041179	SNV	ASCL2,missense_variant,p.Arg100Gly,ENST00000331289,;	918	21	15	SUCCESS
TCN1	6947	.	GRCh37	11	59623531	59623531	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs145109452	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	42	0	ENST00000257264.3:c.748G>A	p.Ala250Thr	p.A250T	ENST00000257264	NM_001062.3	250	Gcc/Acc	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS7978.1	748	MUTECT|MUSE|VARSCANS	.	GAGGGCCTAAT	NONE	byCluster	.	hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF01122	.	T:0.0001	ENSP00000257264	.	6/9	.	.	.	.	.	.	.	.	rs145109452	6/9	PASS	ENST00000257264	Transcript	.	.	ENSG00000134827	11652	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.351)	.	deleterious(0.03)	.	TCO1_HUMAN	TCN1	HGNC	.	.	UPI000013CF55	SNV	TCN1,missense_variant,p.Ala250Thr,ENST00000257264,;TCN1,splice_region_variant,,ENST00000534531,;TCN1,intron_variant,,ENST00000532419,;TCN1,downstream_gene_variant,,ENST00000533734,;TCN1,upstream_gene_variant,,ENST00000529251,;	853	42	39	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65350076	65350076	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	27	134	0	ENST00000309295.4:c.1935del	p.Thr646GlnfsTer25	p.T646Qfs*25	ENST00000309295	NM_001099409.1	645	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS44649.1	1933	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCCCAGGGACA	NONE	.	.	hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069	.	.	ENSP00000312671	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	deletion	EHBP1L1,frameshift_variant,p.Thr646GlnfsTer25,ENST00000309295,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;	2198	134	133	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73076531	73076531	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141322412	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	89	0	ENST00000263674.3:c.5647G>T	p.Val1883Leu	p.V1883L	ENST00000263674	NM_014786.3	1883	Gtg/Ttg	0	A:0	A:0	.	A:0	.	T	V/L	protein_coding	YES	CCDS8221.1	5647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGTGTGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	A:0	A:0.0003	ENSP00000263674	A:0	19/21	.	.	.	.	.	.	.	.	rs141322412	19/21	PASS	ENST00000263674	Transcript	.	A:0.0004	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.484)	A:0.002	tolerated(0.24)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Val1883Leu,ENST00000263674,;ARHGEF17,non_coding_transcript_exon_variant,,ENST00000543530,;ARHGEF17,downstream_gene_variant,,ENST00000536481,;	5997	89	84	SUCCESS
TUB	7275	.	GRCh37	11	8118839	8118839	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	18	160	0	ENST00000299506.2:c.752T>G	p.Leu251Arg	p.L251R	ENST00000299506	NM_177972.2	251	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS7786.1	917	RADIA|MUTECT|MUSE|VARSCANS	.	GGATCTTGAGG	NONE	.	.	hmmpanther:PTHR16517:SF20,hmmpanther:PTHR16517,Superfamily_domains:SSF54518	.	.	ENSP00000305426	.	8/13	.	.	.	.	.	.	.	.	COSM3359421	8/13	PASS	ENST00000305253	Transcript	.	.	ENSG00000166402	12406	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	TUB_HUMAN	TUB	HGNC	Q9H4D2_HUMAN	.	UPI000013EA27	SNV	TUB,missense_variant,p.Leu257Arg,ENST00000534099,;TUB,missense_variant,p.Leu251Arg,ENST00000299506,;TUB,missense_variant,p.Leu306Arg,ENST00000305253,;	1158	160	179	SUCCESS
TMEM116	89894	.	GRCh37	12	112371729	112371729	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374733446	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	20	95	1	ENST00000550831.3:c.418C>T	p.Arg140Cys	p.R140C	ENST00000550831	NM_138341.2	140	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS55887.1	694	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGCACCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23112,hmmpanther:PTHR23112:SF7,Gene3D:1.20.1070.10	.	A:0.0001	ENSP00000447731	.	9/11	.	.	.	.	.	.	.	.	rs374733446,COSM3416491,COSM3416490	9/11	PASS	ENST00000552374	Transcript	.	.	ENSG00000198270	25084	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.006)	.	tolerated(0.18)	0,1,1	TM116_HUMAN	TMEM116	HGNC	S4R388_HUMAN,F8VWU6_HUMAN,F8VQZ8_HUMAN,F8VNZ8_HUMAN	.	UPI00005A8C09	SNV	TMEM116,missense_variant,p.Arg232Cys,ENST00000552374,;TMEM116,missense_variant,p.Arg46Cys,ENST00000549537,;TMEM116,missense_variant,p.Arg140Cys,ENST00000550831,;TMEM116,missense_variant,p.Arg140Cys,ENST00000437003,;TMEM116,missense_variant,p.Arg197Cys,ENST00000355445,;TMEM116,missense_variant,p.Arg140Cys,ENST00000354825,;TMEM116,downstream_gene_variant,,ENST00000550037,;TMEM116,downstream_gene_variant,,ENST00000550800,;TMEM116,3_prime_UTR_variant,,ENST00000547878,;TMEM116,non_coding_transcript_exon_variant,,ENST00000552801,;TMEM116,non_coding_transcript_exon_variant,,ENST00000548283,;TMEM116,downstream_gene_variant,,ENST00000550020,;TMEM116,downstream_gene_variant,,ENST00000546537,;TMEM116,downstream_gene_variant,,ENST00000551297,;ADAM1B,downstream_gene_variant,,ENST00000454683,;	837	96	131	SUCCESS
DNAH10	196385	.	GRCh37	12	124268707	124268707	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752429146	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	36	84	0	ENST00000409039.3:c.1030G>C	p.Val344Leu	p.V344L	ENST00000409039	NM_207437.3	344	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS9255.2	1030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGTGGAG	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000386770	.	8/78	.	.	.	.	.	.	.	.	rs752429146	8/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Val344Leu,ENST00000409039,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;	1055	84	125	SUCCESS
ALX1	8092	.	GRCh37	12	85680667	85680667	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	5	122	0	ENST00000316824.3:c.568A>G	p.Arg190Gly	p.R190G	ENST00000316824	NM_006982.2	190	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9028.1	568	MUTECT|MUSE	.	GAAAAAGGGAA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF277,hmmpanther:PTHR24329,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000315417	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000316824	Transcript	.	.	ENSG00000180318	1494	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.425)	.	deleterious(0)	.	ALX1_HUMAN	ALX1	HGNC	.	.	UPI000013FEBD	SNV	ALX1,missense_variant,p.Arg190Gly,ENST00000316824,;	723	122	153	SUCCESS
DIS3	22894	.	GRCh37	13	73346861	73346861	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	295	162	365	0	ENST00000377767.4:c.1356G>T	p.Leu452=	p.L452=	ENST00000377767	NM_014953.3	452	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9447.1	1356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCAGAAA	NONE	.	.	Superfamily_domains:SSF50249,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35	.	.	ENSP00000366997	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000377767	Transcript	.	.	ENSG00000083520	20604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRP44_HUMAN	DIS3	HGNC	G3V1J5_HUMAN,B3KM83_HUMAN	.	UPI0000141B79	SNV	DIS3,synonymous_variant,p.%3D,ENST00000545453,;DIS3,synonymous_variant,p.%3D,ENST00000377767,;DIS3,synonymous_variant,p.%3D,ENST00000377780,;DIS3,non_coding_transcript_exon_variant,,ENST00000469339,;DIS3,synonymous_variant,p.%3D,ENST00000490646,;	1457	365	457	SUCCESS
TECPR2	9895	.	GRCh37	14	102916924	102916924	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1457303148	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	88	0	ENST00000359520.7:c.3344G>A	p.Arg1115His	p.R1115H	ENST00000359520	NM_014844.3	1115	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32162.1	3344	MUTECT|MUSE	.	TCCCCGTGGGA	NONE	.	.	hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287	.	.	ENSP00000352510	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000359520	Transcript	1	.	ENSG00000196663	19957	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.836)	.	deleterious(0.01)	.	TCPR2_HUMAN	TECPR2	HGNC	.	.	UPI00001FDC38	SNV	TECPR2,missense_variant,p.Arg1115His,ENST00000359520,;TECPR2,missense_variant,p.Arg1115His,ENST00000558678,;TECPR2,downstream_gene_variant,,ENST00000557786,;	3570	88	97	SUCCESS
INSM2	84684	.	GRCh37	14	36005072	36005072	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	33	96	0	ENST00000307169.3:c.1614A>G	p.Pro538=	p.P538=	ENST00000307169	NM_032594.3	538	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9657.1	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAGGGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR15065:SF3,hmmpanther:PTHR15065,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355	.	.	ENSP00000306523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307169	Transcript	.	.	ENSG00000168348	17539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM2_HUMAN	INSM2	HGNC	.	.	UPI000013EBD6	SNV	INSM2,synonymous_variant,p.%3D,ENST00000307169,;RALGAPA1,downstream_gene_variant,,ENST00000389698,;RALGAPA1,downstream_gene_variant,,ENST00000382366,;RALGAPA1,downstream_gene_variant,,ENST00000554573,;RALGAPA1,downstream_gene_variant,,ENST00000554259,;RALGAPA1,downstream_gene_variant,,ENST00000258840,;RALGAPA1,downstream_gene_variant,,ENST00000307138,;RALGAPA1,downstream_gene_variant,,ENST00000556106,;	1825	96	120	SUCCESS
SNAPC1	6617	.	GRCh37	14	62248976	62248976	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	98	0	ENST00000216294.4:c.837A>G	p.Ser279=	p.S279=	ENST00000216294	NM_003082.3	279	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9755.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCAAGAAG	NONE	.	.	hmmpanther:PTHR15131,hmmpanther:PTHR15131:SF3	.	.	ENSP00000216294	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000216294	Transcript	.	.	ENSG00000023608	11134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNPC1_HUMAN	SNAPC1	HGNC	.	.	UPI0000000DEB	SNV	SNAPC1,synonymous_variant,p.%3D,ENST00000216294,;	941	98	128	SUCCESS
HERC2	8924	.	GRCh37	15	28437148	28437148	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs571204932	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	68	0	ENST00000261609.7:c.8410G>T	p.Gly2804Cys	p.G2804C	ENST00000261609	NM_004667.5	2804	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS10021.1	8410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGTCAA	NONE	.	.	PROSITE_profiles:PS51284,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.60.120.260,Pfam_domain:PF03256,Superfamily_domains:SSF49785	.	.	ENSP00000261609	.	53/93	.	.	.	.	.	.	.	.	rs571204932	53/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Gly2804Cys,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	8519	68	63	SUCCESS
FAM98B	283742	.	GRCh37	15	38773609	38773609	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	35	175	0	ENST00000491535.1:c.846T>A	p.Ile282=	p.I282=	ENST00000491535	NM_001042429.1	282	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10047.2	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTAGGAC	NONE	.	.	hmmpanther:PTHR31353:SF8,hmmpanther:PTHR31353,Pfam_domain:PF10239	.	.	ENSP00000380734	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000397609	Transcript	.	.	ENSG00000171262	26773	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA98B_HUMAN	FAM98B	HGNC	.	.	UPI0000DA182F	SNV	FAM98B,synonymous_variant,p.%3D,ENST00000397609,;FAM98B,synonymous_variant,p.%3D,ENST00000491535,;FAM98B,intron_variant,,ENST00000559431,;	881	175	178	SUCCESS
KIAA0430	0	.	GRCh37	16	15706458	15706458	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	27	95	0	ENST00000396368.3:c.3430T>C	p.Ser1144Pro	p.S1144P	ENST00000396368	NM_001184998.1	1144	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS10562.2	3430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGAGTATC	NONE	.	.	Pfam_domain:PF12872,hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379,PROSITE_profiles:PS51644	.	.	ENSP00000379654	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000396368	Transcript	.	.	ENSG00000166783	29562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	deleterious(0)	.	MARF1_HUMAN	KIAA0430	HGNC	F8VRS5_HUMAN	.	UPI00006881BC	SNV	KIAA0430,missense_variant,p.Ser1144Pro,ENST00000551742,;KIAA0430,missense_variant,p.Ser1141Pro,ENST00000602337,;KIAA0430,missense_variant,p.Ser979Pro,ENST00000540441,;KIAA0430,missense_variant,p.Ser746Pro,ENST00000344181,;KIAA0430,missense_variant,p.Ser1141Pro,ENST00000548025,;KIAA0430,missense_variant,p.Ser1144Pro,ENST00000396368,;C16orf45,intron_variant,,ENST00000565857,;CTB-193M12.1,downstream_gene_variant,,ENST00000549756,;KIAA0430,3_prime_UTR_variant,,ENST00000552553,;KIAA0430,downstream_gene_variant,,ENST00000546864,;KIAA0430,downstream_gene_variant,,ENST00000552535,;	3637	95	108	SUCCESS
SEC14L5	9717	.	GRCh37	16	5050723	5050723	+	synonymous_variant	Silent	SNP	G	G	A	rs534122915	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	103	0	ENST00000251170.7:c.1038G>A	p.Gly346=	p.G346=	ENST00000251170	NM_014692.1	346	ggG/ggA	0	.	C:0	.	C:0.0014	.	A	G	protein_coding	YES	CCDS45403.1	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGGAGGA	NONE	by1000G	.	PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF39,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087	C:0	.	ENSP00000251170	C:0	9/16	.	.	.	.	.	.	.	.	rs534122915	9/16	PASS	ENST00000251170	Transcript	.	C:0.0002	ENSG00000103184	29032	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	S14L5_HUMAN	SEC14L5	HGNC	K7ERV2_HUMAN	.	UPI00001C1FA3	SNV	SEC14L5,synonymous_variant,p.%3D,ENST00000251170,;	1218	103	92	SUCCESS
MTSS1L	0	.	GRCh37	16	70710812	70710812	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	95	0	ENST00000338779.6:c.802T>G	p.Ser268Ala	p.S268A	ENST00000338779	NM_138383.2	268	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS32476.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15708:SF8,hmmpanther:PTHR15708	.	.	ENSP00000341171	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000338779	Transcript	.	.	ENSG00000132613	25094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.05)	.	MTSSL_HUMAN	MTSS1L	HGNC	.	.	UPI00001D627C	SNV	MTSS1L,missense_variant,p.Ser268Ala,ENST00000338779,;MTSS1L,missense_variant,p.Ser90Ala,ENST00000562883,;MTSS1L,downstream_gene_variant,,ENST00000576338,;	1077	95	92	SUCCESS
TAT	6898	.	GRCh37	16	71604656	71604657	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	118	21	145	0	ENST00000355962.4:c.837dup	p.Lys280GlnfsTer17	p.K280Qfs*17	ENST00000355962	NM_000353.2	279	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS10903.1	837-838	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGCTTGGCCA	NONE	.	.	hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,PROSITE_patterns:PS00105,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	.	.	ENSP00000348234	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	insertion	TAT,frameshift_variant,p.Lys280GlnfsTer17,ENST00000355962,;RP11-432I5.1,intron_variant,,ENST00000561529,;TAT,downstream_gene_variant,,ENST00000566010,;TAT,upstream_gene_variant,,ENST00000564007,;TAT,downstream_gene_variant,,ENST00000566094,;	971-972	145	139	SUCCESS
TEKT3	64518	.	GRCh37	17	15234544	15234544	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	38	157	0	ENST00000338696.2:c.359T>A	p.Leu120Gln	p.L120Q	ENST00000338696		120	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11169.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTAGTTTC	NONE	.	.	hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF24,Pfam_domain:PF03148	.	.	ENSP00000379263	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000395930	Transcript	.	.	ENSG00000125409	14293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	TEKT3_HUMAN	TEKT3	HGNC	F5H5M8_HUMAN,F5H4K1_HUMAN,F5H115_HUMAN,F5GZV8_HUMAN	.	UPI0000136BAB	SNV	TEKT3,missense_variant,p.Leu120Gln,ENST00000338696,;TEKT3,missense_variant,p.Leu120Gln,ENST00000539316,;TEKT3,missense_variant,p.Leu120Gln,ENST00000395930,;TEKT3,missense_variant,p.Leu120Gln,ENST00000536146,;TEKT3,5_prime_UTR_variant,,ENST00000539245,;TEKT3,downstream_gene_variant,,ENST00000543896,;TEKT3,missense_variant,p.Leu120Gln,ENST00000395931,;TEKT3,non_coding_transcript_exon_variant,,ENST00000470325,;	546	157	146	SUCCESS
PRPF8	10594	.	GRCh37	17	1584925	1584925	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	29	148	0	ENST00000304992.6:c.713T>G	p.Leu238Arg	p.L238R	ENST00000304992	NM_006445.3	238	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS11010.1	713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGAGAGTC	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140	.	.	ENSP00000460348	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,missense_variant,p.Leu183Arg,ENST00000577001,;PRPF8,missense_variant,p.Leu238Arg,ENST00000572621,;PRPF8,missense_variant,p.Leu238Arg,ENST00000304992,;PRPF8,upstream_gene_variant,,ENST00000574728,;PRPF8,downstream_gene_variant,,ENST00000571346,;PRPF8,upstream_gene_variant,,ENST00000573716,;PRPF8,upstream_gene_variant,,ENST00000576407,;	979	148	125	SUCCESS
RNF112	7732	.	GRCh37	17	19319264	19319264	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	37	0	ENST00000461366.1:c.1672C>T	p.Leu558Phe	p.L558F	ENST00000461366	NM_007148.4	558	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS58529.1	1672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCTCATG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751	.	.	ENSP00000454919	.	14/14	.	.	.	.	.	.	.	.	COSM3795346	14/14	PASS	ENST00000461366	Transcript	.	.	ENSG00000128482	12968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated(0.2)	1	RN112_HUMAN	RNF112	HGNC	J3QRB8_HUMAN	.	UPI00001B0607	SNV	RNF112,missense_variant,p.Leu558Phe,ENST00000461366,;RNF112,downstream_gene_variant,,ENST00000575165,;AC004448.2,upstream_gene_variant,,ENST00000437646,;snoMe28S-Am2634,upstream_gene_variant,,ENST00000583500,;CTB-187M2.2,upstream_gene_variant,,ENST00000579897,;RNF112,downstream_gene_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574782,;RNF112,downstream_gene_variant,,ENST00000574149,;	1887	37	36	SUCCESS
UBBP4	23666	.	GRCh37	17	21731257	21731257	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	36	151	0	ENST00000578713.1:c.504+55G>T		p.*168*	ENST00000578713				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGGCATC	NONE	.	.	.	.	.	ENSP00000464265	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000578713	Transcript	.	.	ENSG00000263563	12467	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UBBP4	HGNC	J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN	.	UPI000268AF41	SNV	UBBP4,missense_variant,p.Gly187Cys,ENST00000584755,;UBBP4,3_prime_UTR_variant,,ENST00000583708,;UBBP4,intron_variant,,ENST00000581775,;UBBP4,intron_variant,,ENST00000578713,;UBBP4,downstream_gene_variant,,ENST00000584398,;UBBP4,downstream_gene_variant,,ENST00000581769,;	.	151	156	SUCCESS
IKZF3	22806	.	GRCh37	17	37922198	37922198	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149299224	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	17	102	0	ENST00000346872.3:c.1375G>A	p.Val459Ile	p.V459I	ENST00000346872	NM_012481.4	459	Gtc/Atc	0	T:0	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS11346.1	1375	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACGCGGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF29,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0	T:0.0001	ENSP00000344544	T:0	8/8	.	.	.	.	.	.	.	.	rs149299224	8/8	common_in_exac	ENST00000346872	Transcript	.	T:0.0002	ENSG00000161405	13178	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	T:0.001	tolerated(0.18)	.	IKZF3_HUMAN	IKZF3	HGNC	B4DVV5_HUMAN	.	UPI000006E6CC	SNV	IKZF3,missense_variant,p.Val420Ile,ENST00000351680,;IKZF3,missense_variant,p.Val386Ile,ENST00000439167,;IKZF3,missense_variant,p.Val425Ile,ENST00000535189,;IKZF3,missense_variant,p.Val316Ile,ENST00000377944,;IKZF3,missense_variant,p.Val372Ile,ENST00000377958,;IKZF3,missense_variant,p.Val459Ile,ENST00000346872,;IKZF3,missense_variant,p.Val403Ile,ENST00000467757,;IKZF3,missense_variant,p.Val212Ile,ENST00000583368,;IKZF3,missense_variant,p.Val325Ile,ENST00000377945,;IKZF3,missense_variant,p.Val381Ile,ENST00000346243,;IKZF3,missense_variant,p.Val238Ile,ENST00000377952,;IKZF3,missense_variant,p.Val364Ile,ENST00000439016,;IKZF3,missense_variant,p.Val277Ile,ENST00000394189,;IKZF3,missense_variant,p.Val420Ile,ENST00000350532,;RP11-94L15.2,upstream_gene_variant,,ENST00000488188,;IKZF3,3_prime_UTR_variant,,ENST00000348427,;IKZF3,3_prime_UTR_variant,,ENST00000293068,;	1437	102	103	SUCCESS
TEX14	56155	.	GRCh37	17	56643154	56643154	+	synonymous_variant	Silent	SNP	C	C	T	rs372034132	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	64	1	ENST00000240361.8:c.4056G>A	p.Thr1352=	p.T1352=	ENST00000240361		1352	acG/acA	0	T:0.0005	.	.	.	.	T	T	protein_coding	YES	CCDS56042.1	4056	MUTECT|MUSE	.	AACACCGTGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23060	.	T:0	ENSP00000240361	.	28/33	.	.	.	.	.	.	.	.	rs372034132,COSM3520182,COSM3520181	28/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,synonymous_variant,p.%3D,ENST00000349033,;TEX14,synonymous_variant,p.%3D,ENST00000389934,;TEX14,synonymous_variant,p.%3D,ENST00000240361,;TEX14,upstream_gene_variant,,ENST00000584699,;TEX14,3_prime_UTR_variant,,ENST00000582740,;TEX14,3_prime_UTR_variant,,ENST00000581147,;	4142	65	77	SUCCESS
GEMIN4	50628	.	GRCh37	17	655492	655492	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	14	0	ENST00000319004.5:c.-110C>A		p.*37*	ENST00000319004	NM_015721.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45559.1	.	MUTECT|MUSE	.	GCCGCGCTTAG	NONE	.	.	.	.	.	ENSP00000321706	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000319004	Transcript	.	.	ENSG00000179409	15717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GEMI4_HUMAN	GEMIN4	HGNC	I3L4M4_HUMAN,I3L2C7_HUMAN	.	UPI000020001F	SNV	GEMIN4,5_prime_UTR_variant,,ENST00000319004,;GEMIN4,intron_variant,,ENST00000576383,;GEMIN4,intron_variant,,ENST00000570364,;GEMIN4,upstream_gene_variant,,ENST00000574958,;GEMIN4,upstream_gene_variant,,ENST00000437269,;GEMIN4,upstream_gene_variant,,ENST00000573482,;GEMIN4,upstream_gene_variant,,ENST00000576778,;DBIL5P,upstream_gene_variant,,ENST00000449830,;DBIL5P,upstream_gene_variant,,ENST00000536214,;GLOD4,downstream_gene_variant,,ENST00000575800,;DBIL5P,upstream_gene_variant,,ENST00000568946,;DBIL5P,upstream_gene_variant,,ENST00000453414,;	10	14	13	SUCCESS
SLC39A11	201266	.	GRCh37	17	70845832	70845832	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373163649	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	68	0	ENST00000542342.2:c.563G>A	p.Gly188Asp	p.G188D	ENST00000542342	NM_001159770.1	188	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS54160.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCCGCCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11065,hmmpanther:PTHR11065:SF13,Pfam_domain:PF02535	.	.	ENSP00000445829	.	6/10	.	.	.	.	.	.	.	.	rs373163649	6/10	PASS	ENST00000542342	Transcript	.	.	ENSG00000133195	14463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.5)	.	S39AB_HUMAN	SLC39A11	HGNC	J3QLA9_HUMAN,J3KT59_HUMAN,J3KRI1_HUMAN	.	UPI000020017B	SNV	SLC39A11,missense_variant,p.Gly181Asp,ENST00000579732,;SLC39A11,missense_variant,p.Gly181Asp,ENST00000580557,;SLC39A11,missense_variant,p.Gly188Asp,ENST00000542342,;SLC39A11,missense_variant,p.Gly97Asp,ENST00000582769,;SLC39A11,missense_variant,p.Gly38Asp,ENST00000583715,;SLC39A11,missense_variant,p.Gly181Asp,ENST00000255559,;SLC39A11,missense_variant,p.Gly5Asp,ENST00000581581,;SLC39A11,downstream_gene_variant,,ENST00000583146,;SLC39A11,non_coding_transcript_exon_variant,,ENST00000579491,;SLC39A11,missense_variant,p.Gly29Asp,ENST00000579319,;SLC39A11,3_prime_UTR_variant,,ENST00000584129,;	652	68	57	SUCCESS
COG1	9382	.	GRCh37	17	71202364	71202364	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	80	0	ENST00000299886.4:c.2582T>G	p.Leu861Arg	p.L861R	ENST00000299886	NM_018714.2	861	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS11692.1	2582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTCAACA	NONE	.	.	hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0	.	.	ENSP00000299886	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000299886	Transcript	.	.	ENSG00000166685	6545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	COG1_HUMAN	COG1	HGNC	J3KSY3_HUMAN	.	UPI0000127E34	SNV	COG1,missense_variant,p.Leu47Arg,ENST00000582512,;COG1,missense_variant,p.Leu861Arg,ENST00000438720,;COG1,missense_variant,p.Leu861Arg,ENST00000299886,;COG1,missense_variant,p.Leu23Arg,ENST00000582672,;FAM104A,downstream_gene_variant,,ENST00000403627,;FAM104A,downstream_gene_variant,,ENST00000583024,;FAM104A,downstream_gene_variant,,ENST00000580032,;FAM104A,downstream_gene_variant,,ENST00000579872,;FAM104A,downstream_gene_variant,,ENST00000581110,;FAM104A,downstream_gene_variant,,ENST00000405159,;FAM104A,downstream_gene_variant,,ENST00000583178,;COG1,non_coding_transcript_exon_variant,,ENST00000577238,;COG1,non_coding_transcript_exon_variant,,ENST00000580271,;COG1,downstream_gene_variant,,ENST00000577844,;COG1,upstream_gene_variant,,ENST00000582973,;	2662	80	86	SUCCESS
ME2	4200	.	GRCh37	18	48444552	48444552	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs532005925	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	276	25	310	0	ENST00000321341.5:c.703A>G	p.Ile235Val	p.I235V	ENST00000321341	NM_002396.4	235	Att/Gtt	0	.	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS11948.1	703	MUTECT|MUSE|VARSCANS	.	ACCTGATTGAT	NONE	by1000G	.	hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF12,Pfam_domain:PF00390,Gene3D:3.40.50.10380,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF53223	G:0	.	ENSP00000321070	G:0	7/16	.	.	.	.	.	.	.	.	rs532005925	7/16	PASS	ENST00000321341	Transcript	.	G:0.0002	ENSG00000082212	6984	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.297)	G:0.001	tolerated(0.38)	.	MAOM_HUMAN	ME2	HGNC	.	.	UPI000012EBAA	SNV	ME2,missense_variant,p.Ile235Val,ENST00000382927,;ME2,missense_variant,p.Ile235Val,ENST00000321341,;ME2,non_coding_transcript_exon_variant,,ENST00000589330,;	975	310	302	SUCCESS
DCC	1630	.	GRCh37	18	50923690	50923690	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751742206	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	11	112	0	ENST00000442544.2:c.2701A>G	p.Thr901Ala	p.T901A	ENST00000442544	NM_005215.3	901	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS11952.1	2701	RADIA|MUTECT|MUSE	.	ACACAACATCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014	.	.	ENSP00000389140	.	18/29	.	.	.	.	.	.	.	.	rs751742206	18/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Thr536Ala,ENST00000581580,;DCC,missense_variant,p.Thr901Ala,ENST00000442544,;DCC,missense_variant,p.Thr729Ala,ENST00000412726,;DCC,missense_variant,p.Thr40Ala,ENST00000579941,;DCC,missense_variant,p.Asn757Ser,ENST00000304775,;	3317	112	122	SUCCESS
FARSA	2193	.	GRCh37	19	13039211	13039211	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	123	0	ENST00000314606.4:c.786C>A	p.Leu262=	p.L262=	ENST00000314606	NM_004461.2	262	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12287.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAGGGC	NONE	.	.	Superfamily_domains:SSF55681,Gene3D:3.30.930.10,Pfam_domain:PF01409,TIGRFAM_domain:TIGR00468,hmmpanther:PTHR11538:SF15,hmmpanther:PTHR11538,PROSITE_profiles:PS50862	.	.	ENSP00000320309	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000314606	Transcript	.	.	ENSG00000179115	3592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYFA_HUMAN	FARSA	HGNC	Q6IBR2_HUMAN	.	UPI0000136413	SNV	FARSA,synonymous_variant,p.%3D,ENST00000593021,;FARSA,synonymous_variant,p.%3D,ENST00000588025,;FARSA,synonymous_variant,p.%3D,ENST00000314606,;FARSA,synonymous_variant,p.%3D,ENST00000587488,;FARSA,synonymous_variant,p.%3D,ENST00000423140,;FARSA,downstream_gene_variant,,ENST00000587981,;CTC-425F1.2,upstream_gene_variant,,ENST00000592636,;FARSA,3_prime_UTR_variant,,ENST00000586146,;FARSA,non_coding_transcript_exon_variant,,ENST00000588965,;FARSA,downstream_gene_variant,,ENST00000592662,;FARSA,downstream_gene_variant,,ENST00000586280,;	805	123	108	SUCCESS
PPAP2C	0	.	GRCh37	19	287737	287737	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	62	0	ENST00000434325.2:c.51del	p.Ala18ProfsTer35	p.A18Pfs*35	ENST00000434325		17	gaA/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS12024.1	282	INDELOCATOR*|PINDEL	.	GTAGGCTTCCCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000329697	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	deletion	PPAP2C,frameshift_variant,p.Ala95ProfsTer35,ENST00000327790,;PPAP2C,frameshift_variant,p.Ala74ProfsTer35,ENST00000269812,;PPAP2C,frameshift_variant,p.Ala18ProfsTer35,ENST00000434325,;PPAP2C,frameshift_variant,p.Ala80ProfsTer35,ENST00000591572,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,non_coding_transcript_exon_variant,,ENST00000589672,;	386	62	74	SUCCESS
ZNF57	126295	.	GRCh37	19	2917323	2917323	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1599605530	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	26	100	0	ENST00000306908.5:c.704G>A	p.Gly235Glu	p.G235E	ENST00000306908	NM_173480.2	235	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12098.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGGGTTCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000303696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000306908	Transcript	.	.	ENSG00000171970	13125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.27)	.	ZNF57_HUMAN	ZNF57	HGNC	K7ERB8_HUMAN,G3V131_HUMAN,E5RHE3_HUMAN,A5HJR3_HUMAN	.	UPI000006FE5C	SNV	ZNF57,missense_variant,p.Gly203Glu,ENST00000523428,;ZNF57,missense_variant,p.Gly235Glu,ENST00000306908,;ZNF57,downstream_gene_variant,,ENST00000590305,;ZNF57,downstream_gene_variant,,ENST00000522294,;AC006277.2,intron_variant,,ENST00000520090,;	852	100	119	SUCCESS
CEACAM7	1087	.	GRCh37	19	42192077	42192077	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	68	0	ENST00000006724.3:c.18C>A	p.Ala6=	p.A6=	ENST00000006724	NM_006890.3	6	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12583.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGGCTGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF107	.	.	ENSP00000006724	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000006724	Transcript	.	.	ENSG00000007306	1819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM7_HUMAN	CEACAM7	HGNC	.	.	UPI000012748E	SNV	CEACAM7,synonymous_variant,p.%3D,ENST00000401731,;CEACAM7,synonymous_variant,p.%3D,ENST00000602225,;CEACAM7,synonymous_variant,p.%3D,ENST00000338196,;CEACAM7,synonymous_variant,p.%3D,ENST00000006724,;CEACAM7,intron_variant,,ENST00000599715,;	220	68	68	SUCCESS
CD79A	973	.	GRCh37	19	42383663	42383663	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	46	0	ENST00000221972.3:c.438A>G	p.Thr146=	p.T146=	ENST00000221972	NM_021601.3	146	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12589.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAGCCGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14334,hmmpanther:PTHR14334:SF1	.	.	ENSP00000221972	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000221972	Transcript	1	.	ENSG00000105369	1698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD79A_HUMAN	CD79A	HGNC	.	.	UPI000011398E	SNV	CD79A,missense_variant,p.Gln228Arg,ENST00000597454,;CD79A,synonymous_variant,p.%3D,ENST00000221972,;CD79A,synonymous_variant,p.%3D,ENST00000444740,;ARHGEF1,upstream_gene_variant,,ENST00000599846,;ARHGEF1,upstream_gene_variant,,ENST00000337665,;ARHGEF1,upstream_gene_variant,,ENST00000347545,;ARHGEF1,upstream_gene_variant,,ENST00000354532,;ARHGEF1,upstream_gene_variant,,ENST00000378152,;ARHGEF1,upstream_gene_variant,,ENST00000596957,;ARHGEF1,upstream_gene_variant,,ENST00000600274,;ARHGEF1,upstream_gene_variant,,ENST00000600387,;	623	46	41	SUCCESS
FCGRT	2217	.	GRCh37	19	50016611	50016611	+	intron_variant	Intron	SNP	T	T	G	rs561767692	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	30	5	ENST00000221466.5:c.-14-33T>G		p.*5*	ENST00000221466	NM_001136019.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12770.1	.	MUTECT|MUSE	.	GGGGGTCGGGA	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000221466	.	.	.	.	.	.	.	.	.	.	rs561767692	.	PASS	ENST00000221466	Transcript	.	.	ENSG00000104870	3621	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FCGRN_HUMAN	FCGRT	HGNC	Q8N166_HUMAN,M0R2T3_HUMAN,M0R266_HUMAN,M0QYM4_HUMAN	.	UPI0000119C21	SNV	FCGRT,5_prime_UTR_variant,,ENST00000599988,;FCGRT,5_prime_UTR_variant,,ENST00000426395,;FCGRT,intron_variant,,ENST00000221466,;FCGRT,intron_variant,,ENST00000600273,;FCGRT,intron_variant,,ENST00000599701,;FCGRT,intron_variant,,ENST00000598491,;FCGRT,upstream_gene_variant,,ENST00000598076,;FCGRT,upstream_gene_variant,,ENST00000596975,;FCGRT,upstream_gene_variant,,ENST00000593381,;FCGRT,intron_variant,,ENST00000594823,;FCGRT,intron_variant,,ENST00000595677,;FCGRT,non_coding_transcript_exon_variant,,ENST00000595881,;FCGRT,intron_variant,,ENST00000596147,;FCGRT,intron_variant,,ENST00000598927,;FCGRT,upstream_gene_variant,,ENST00000593431,;FCGRT,upstream_gene_variant,,ENST00000598949,;FCGRT,upstream_gene_variant,,ENST00000598319,;FCGRT,upstream_gene_variant,,ENST00000598936,;FCGRT,upstream_gene_variant,,ENST00000452439,;	.	36	24	SUCCESS
LILRA4	23547	.	GRCh37	19	54844951	54844951	+	synonymous_variant	Silent	SNP	T	T	C	rs770028972	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	100	0	ENST00000291759.4:c.1392A>G	p.Leu464=	p.L464=	ENST00000291759	NM_012276.3	464	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12890.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAATAACAG	NONE	.	.	PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF98,Low_complexity_(Seg):seg	.	.	ENSP00000291759	.	8/8	.	.	.	.	.	.	.	.	rs770028972	8/8	PASS	ENST00000291759	Transcript	.	.	ENSG00000239961	15503	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRA4_HUMAN	LILRA4	HGNC	.	.	UPI0000202BCD	SNV	LILRA4,synonymous_variant,p.%3D,ENST00000291759,;AC008984.2,intron_variant,,ENST00000507363,;LILRA4,downstream_gene_variant,,ENST00000421056,;LILRA4,downstream_gene_variant,,ENST00000595581,;AC008984.6,upstream_gene_variant,,ENST00000515672,;	1449	100	113	SUCCESS
ZNF772	400720	.	GRCh37	19	57985762	57985762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	25	0	ENST00000343280.4:c.350A>G	p.Glu117Gly	p.E117G	ENST00000343280	NM_001024596.2	117	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS33133.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTCTTCA	NONE	.	.	hmmpanther:PTHR24387:SF75,hmmpanther:PTHR24387	.	.	ENSP00000341165	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000343280	Transcript	.	.	ENSG00000197128	33106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.03)	.	ZN772_HUMAN	ZNF772	HGNC	.	.	UPI000022AA0A	SNV	ZNF772,missense_variant,p.Arg34Gly,ENST00000425074,;ZNF772,missense_variant,p.Glu5Gly,ENST00000427512,;ZNF772,missense_variant,p.Glu117Gly,ENST00000343280,;ZNF772,missense_variant,p.Glu76Gly,ENST00000356584,;ZNF772,intron_variant,,ENST00000600175,;ZNF772,intron_variant,,ENST00000601768,;AC004076.9,intron_variant,,ENST00000596831,;AC003005.2,upstream_gene_variant,,ENST00000595422,;AC003005.2,upstream_gene_variant,,ENST00000594562,;AC004076.9,intron_variant,,ENST00000415705,;ZNF772,downstream_gene_variant,,ENST00000450712,;	611	25	24	SUCCESS
NRTN	4902	.	GRCh37	19	5827964	5827964	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748453602	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	21	0	ENST00000303212.2:c.374T>C	p.Val125Ala	p.V125A	ENST00000303212	NM_004558.3	125	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12151.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGTGCTGT	NONE	byFrequency	.	Superfamily_domains:SSF57501,Gene3D:2.10.90.10,Pfam_domain:PF00019,hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF3,PROSITE_profiles:PS51362	.	.	ENSP00000302648	.	2/2	.	.	.	.	.	.	.	.	rs748453602	2/2	PASS	ENST00000303212	Transcript	1	.	ENSG00000171119	8007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.03)	.	NRTN_HUMAN	NRTN	HGNC	.	.	UPI0000050F8C	SNV	NRTN,missense_variant,p.Val125Ala,ENST00000303212,;FUT6,downstream_gene_variant,,ENST00000528505,;FUT6,downstream_gene_variant,,ENST00000286955,;FUT6,downstream_gene_variant,,ENST00000531199,;FUT6,downstream_gene_variant,,ENST00000532464,;FUT6,downstream_gene_variant,,ENST00000529165,;FUT6,downstream_gene_variant,,ENST00000527106,;FUT6,downstream_gene_variant,,ENST00000318336,;FUT6,downstream_gene_variant,,ENST00000524754,;FUT6,downstream_gene_variant,,ENST00000531085,;FUT6,downstream_gene_variant,,ENST00000592563,;AC011499.1,downstream_gene_variant,,ENST00000579264,;	738	21	30	SUCCESS
COL11A1	1301	.	GRCh37	1	103387110	103387110	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	870	84	816	0	ENST00000370096.3:c.3672A>T	p.Pro1224=	p.P1224=	ENST00000370096	NM_001854.3	1224	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS778.1	3672	MUTECT|MUSE|VARSCANS	.	GGGCCTGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	48/67	.	.	.	.	.	.	.	.	.	48/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;	3985	816	954	SUCCESS
GJA5	2702	.	GRCh37	1	147231308	147231308	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	83	0	ENST00000271348.2:c.39A>G	p.Glu13=	p.E13=	ENST00000271348	NM_005266.6	13	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS929.1	39	MUTECT|MUSE	.	TGTACTTCCTC	NONE	.	.	hmmpanther:PTHR11984:SF13,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00	.	.	ENSP00000271348	.	2/2	.	.	.	.	.	.	.	.	COSM1253256	2/2	PASS	ENST00000271348	Transcript	.	.	ENSG00000143140	4279	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CXA5_HUMAN	GJA5	HGNC	.	.	UPI000013D8D2	SNV	GJA5,synonymous_variant,p.%3D,ENST00000271348,;GJA5,synonymous_variant,p.%3D,ENST00000369237,;GJA5,synonymous_variant,p.%3D,ENST00000430508,;RP11-433J22.2,downstream_gene_variant,,ENST00000428911,;	201	83	96	SUCCESS
CACNA1E	777	.	GRCh37	1	181725172	181725172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	98	128	0	ENST00000367573.2:c.4070A>G	p.Asn1357Ser	p.N1357S	ENST00000367573	NM_001205293.1	1357	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS55664.1	4070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACAACATTA	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	29/48	.	.	.	.	.	.	.	.	.	29/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.01)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Asn1289Ser,ENST00000358338,;CACNA1E,missense_variant,p.Asn964Ser,ENST00000367567,;CACNA1E,missense_variant,p.Asn1308Ser,ENST00000357570,;CACNA1E,missense_variant,p.Asn1338Ser,ENST00000360108,;CACNA1E,missense_variant,p.Asn1338Ser,ENST00000526775,;CACNA1E,missense_variant,p.Asn1357Ser,ENST00000367573,;CACNA1E,missense_variant,p.Asn1357Ser,ENST00000367570,;	4070	128	220	SUCCESS
RGL1	23179	.	GRCh37	1	183774353	183774353	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	113	169	0	ENST00000360851.3:c.-79G>A		p.*27*	ENST00000360851				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCTGAG	NONE	.	.	.	.	.	ENSP00000303192	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304685	Transcript	.	.	ENSG00000143344	30281	.	.	MODIFIER	2/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL1_HUMAN	RGL1	HGNC	.	.	UPI000002B24C	SNV	RGL1,5_prime_UTR_variant,,ENST00000539189,;RGL1,5_prime_UTR_variant,,ENST00000360851,;RGL1,intron_variant,,ENST00000304685,;RGL1,intron_variant,,ENST00000536277,;	.	169	233	SUCCESS
FBXO28	23219	.	GRCh37	1	224345064	224345064	+	synonymous_variant	Silent	SNP	G	G	A	rs201209850	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	10	123	0	ENST00000366862.5:c.723G>A	p.Pro241=	p.P241=	ENST00000366862	NM_015176.3	241	ccG/ccA	0	A:0	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS1539.1	723	MUTECT|MUSE	.	GGACCGTCTGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13252	A:0	A:0.0001	ENSP00000355827	A:0	5/5	.	.	.	.	.	.	.	.	rs201209850	5/5	PASS	ENST00000366862	Transcript	.	A:0.0006	ENSG00000143756	29046	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0031	.	.	FBX28_HUMAN	FBXO28	HGNC	B4E0H5_HUMAN	.	UPI000006F1C1	SNV	FBXO28,missense_variant,p.Arg176His,ENST00000424254,;FBXO28,synonymous_variant,p.%3D,ENST00000366862,;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	766	123	154	SUCCESS
WNT9A	7483	.	GRCh37	1	228112006	228112006	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	210	35	169	0	ENST00000272164.5:c.448A>G	p.Thr150Ala	p.T150A	ENST00000272164	NM_003395.2	150	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31045.1	448	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTACAGC	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF75,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000272164	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000272164	Transcript	.	.	ENSG00000143816	12778	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	WNT9A_HUMAN	WNT9A	HGNC	D9ZGG3_HUMAN	.	UPI000005104B	SNV	WNT9A,missense_variant,p.Thr150Ala,ENST00000272164,;	459	170	245	SUCCESS
OR2T35	403244	.	GRCh37	1	248801857	248801857	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146528192	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	71	133	0	ENST00000317450.3:c.703C>A	p.Arg235Ser	p.R235S	ENST00000317450	NM_001001827.1	235	Cgc/Agc	0	A:0.0003	A:0	.	A:0	.	T	R/S	protein_coding	YES	CCDS31123.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCGCCGGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	A:0.001	A:0	ENSP00000324369	A:0	1/1	.	.	.	.	.	.	.	.	rs146528192	1/1	PASS	ENST00000317450	Transcript	.	A:0.0002	ENSG00000177151	31257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	A:0	deleterious(0.01)	.	O2T35_HUMAN	OR2T35	HGNC	.	.	UPI0000061ED3	SNV	OR2T35,missense_variant,p.Arg235Ser,ENST00000317450,;	703	133	181	SUCCESS
NUDC	10726	.	GRCh37	1	27269366	27269366	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754341066	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	31	83	1	ENST00000321265.5:c.551C>T	p.Ala184Val	p.A184V	ENST00000321265	NM_006600.3	184	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS292.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGGTCC	NONE	byFrequency	.	PROSITE_profiles:PS51203,hmmpanther:PTHR12356,Gene3D:2.60.40.790,Pfam_domain:PF04969,Superfamily_domains:SSF49764	.	.	ENSP00000319664	.	6/9	.	.	.	.	.	.	.	.	rs754341066	6/9	PASS	ENST00000321265	Transcript	.	.	ENSG00000090273	8045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	NUDC_HUMAN	NUDC	HGNC	.	.	UPI000006D29B	SNV	NUDC,missense_variant,p.Ala184Val,ENST00000321265,;NUDC,downstream_gene_variant,,ENST00000435827,;NUDC,downstream_gene_variant,,ENST00000452707,;NUDC,upstream_gene_variant,,ENST00000484772,;	674	84	108	SUCCESS
RIMKLA	284716	.	GRCh37	1	42880608	42880608	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776422681	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	54	0	ENST00000431473.3:c.1139T>C	p.Ile380Thr	p.I380T	ENST00000431473	NM_173642.3	380	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS466.2	1139	RADIA|MUTECT|MUSE|VARSCANS	.	CAACATTAACA	NONE	.	.	.	.	.	ENSP00000414330	.	5/5	.	.	.	.	.	.	.	.	rs776422681	5/5	PASS	ENST00000431473	Transcript	.	.	ENSG00000177181	28725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	deleterious_low_confidence(0.02)	.	RIMKA_HUMAN	RIMKLA	HGNC	.	.	UPI0000160ABF	SNV	RIMKLA,missense_variant,p.Ile380Thr,ENST00000431473,;RIMKLA,downstream_gene_variant,,ENST00000410070,;RP11-157D18.2,upstream_gene_variant,,ENST00000411908,;	1268	54	52	SUCCESS
MAST2	23139	.	GRCh37	1	46500510	46500510	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1490320007	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	24	108	0	ENST00000361297.2:c.4169G>A	p.Arg1390Gln	p.R1390Q	ENST00000361297	NM_015112.2	1390	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS41326.1	4169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACGGCCCA	NONE	.	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356	.	.	ENSP00000354671	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0)	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,missense_variant,p.Arg1390Gln,ENST00000361297,;MAST2,missense_variant,p.Arg1200Gln,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,downstream_gene_variant,,ENST00000492813,;MAST2,downstream_gene_variant,,ENST00000477968,;	4452	108	110	SUCCESS
MIER1	57708	.	GRCh37	1	67423877	67423877	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	107	1	ENST00000355356.3:c.316A>G	p.Asn106Asp	p.N106D	ENST00000355356	NM_001077701.2	106	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS53326.1	475	RADIA|MUTECT|MUSE	.	ATGACAACAGT	NONE	.	.	hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24	.	.	ENSP00000383820	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.09)	.	tolerated(0.13)	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	SNV	MIER1,missense_variant,p.Asn106Asp,ENST00000355356,;MIER1,missense_variant,p.Asn43Asp,ENST00000355977,;MIER1,missense_variant,p.Asn123Asp,ENST00000371018,;MIER1,missense_variant,p.Asn123Asp,ENST00000357692,;MIER1,missense_variant,p.Asn106Asp,ENST00000401042,;MIER1,missense_variant,p.Asn159Asp,ENST00000401041,;MIER1,missense_variant,p.Asn159Asp,ENST00000371014,;MIER1,missense_variant,p.Asn123Asp,ENST00000371016,;MIER1,non_coding_transcript_exon_variant,,ENST00000479067,;MIER1,upstream_gene_variant,,ENST00000493357,;	545	108	101	SUCCESS
MIER1	57708	.	GRCh37	1	67423897	67423897	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	92	0	ENST00000355356.3:c.336A>C	p.Glu112Asp	p.E112D	ENST00000355356	NM_001077701.2	112	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS53326.1	495	RADIA|MUTECT|MUSE	.	GGGGAAAATAA	NONE	.	.	hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24	.	.	ENSP00000383820	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.09)	.	tolerated(0.28)	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	SNV	MIER1,missense_variant,p.Glu112Asp,ENST00000355356,;MIER1,missense_variant,p.Glu49Asp,ENST00000355977,;MIER1,missense_variant,p.Glu129Asp,ENST00000371018,;MIER1,missense_variant,p.Glu129Asp,ENST00000357692,;MIER1,missense_variant,p.Glu112Asp,ENST00000401042,;MIER1,missense_variant,p.Glu165Asp,ENST00000401041,;MIER1,missense_variant,p.Glu165Asp,ENST00000371014,;MIER1,missense_variant,p.Glu129Asp,ENST00000371016,;MIER1,non_coding_transcript_exon_variant,,ENST00000479067,;MIER1,upstream_gene_variant,,ENST00000493357,;	565	92	89	SUCCESS
CYYR1	116159	.	GRCh37	21	27840930	27840930	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371412046	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	72	0	ENST00000299340.4:c.355G>T	p.Asp119Tyr	p.D119Y	ENST00000299340	NM_052954.2	119	Gac/Tac	0	T:0.0002	.	.	.	.	A	D/Y	protein_coding	YES	CCDS13578.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCGTGAC	BUFFER|p.H118H|c.354C>T|5	byFrequency|byCluster	.	Pfam_domain:PF10873	.	T:0	ENSP00000299340	.	4/4	.	.	.	.	.	.	.	.	rs371412046,COSM2841401	4/4	PASS	ENST00000299340	Transcript	.	.	ENSG00000166265	16274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.929)	.	deleterious(0)	0,1	CYYR1_HUMAN	CYYR1	HGNC	.	.	UPI0000128D80	SNV	CYYR1,missense_variant,p.Asp119Tyr,ENST00000299340,;CYYR1,3_prime_UTR_variant,,ENST00000435845,;AP001596.6,intron_variant,,ENST00000444306,;AP001596.6,intron_variant,,ENST00000421771,;AP001597.1,intron_variant,,ENST00000357401,;AP001597.1,intron_variant,,ENST00000414486,;AP001596.6,intron_variant,,ENST00000429340,;	699	72	50	SUCCESS
FOXRED2	80020	.	GRCh37	22	36900813	36900813	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs756611081	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	27	94	0	ENST00000216187.6:c.528C>T		p.X176_splice	ENST00000216187	NM_024955.5	176	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13929.1	528	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGCTGCA	NONE	byFrequency	.	hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF53,Pfam_domain:PF13738,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000380401	.	3/9	.	.	.	.	.	.	.	.	rs756611081	3/9	PASS	ENST00000397224	Transcript	.	.	ENSG00000100350	26264	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXRD2_HUMAN	FOXRED2	HGNC	B0QYA2_HUMAN,A8MUR8_HUMAN	.	UPI00000744FA	SNV	FOXRED2,synonymous_variant,p.%3D,ENST00000397224,;FOXRED2,synonymous_variant,p.%3D,ENST00000397223,;FOXRED2,synonymous_variant,p.%3D,ENST00000216187,;FOXRED2,downstream_gene_variant,,ENST00000423980,;	622	94	108	SUCCESS
SHANK3	85358	.	GRCh37	22	51117297	51117297	+	synonymous_variant	Silent	SNP	G	G	A	rs1426256966	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	88	0	ENST00000262795.3:c.549G>A	p.Gly183=	p.G183=	ENST00000262795	NM_033517.1	183	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGCTCAC	BUFFER|p.R181H|c.542G>A|4	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000442518	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000262795	Transcript	.	.	ENSG00000251322	14294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SHANK3	HGNC	F8TCV3_HUMAN,F2Z3L0_HUMAN	.	UPI0000DD85FB	SNV	SHANK3,synonymous_variant,p.%3D,ENST00000262795,;SHANK3,synonymous_variant,p.%3D,ENST00000445220,;SHANK3,synonymous_variant,p.%3D,ENST00000414786,;	549	88	87	SUCCESS
LRP1B	53353	.	GRCh37	2	141526828	141526828	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs932656739	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	96	0	ENST00000389484.3:c.5712G>T	p.Met1904Ile	p.M1904I	ENST00000389484	NM_018557.2	1904	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2182.1	5712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGCATCAA	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	35/91	.	.	.	.	.	.	.	.	COSM3567208	35/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.019)	.	.	1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Met1904Ile,ENST00000389484,;	6684	96	97	SUCCESS
FSHR	2492	.	GRCh37	2	49210076	49210076	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	53	249	0	ENST00000406846.2:c.643C>T	p.His215Tyr	p.H215Y	ENST00000406846	NM_000145.3	215	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS1843.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGGAAAA	NONE	.	.	hmmpanther:PTHR24372:SF5,hmmpanther:PTHR24372,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000384708	.	8/10	.	.	.	.	.	.	.	.	COSM3582007	8/10	PASS	ENST00000406846	Transcript	.	.	ENSG00000170820	3969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.22)	1	FSHR_HUMAN	FSHR	HGNC	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN	.	UPI000013E97A	SNV	FSHR,missense_variant,p.His215Tyr,ENST00000346173,;FSHR,missense_variant,p.His215Tyr,ENST00000454032,;FSHR,missense_variant,p.His189Tyr,ENST00000304421,;FSHR,missense_variant,p.His215Tyr,ENST00000406846,;FSHR,5_prime_UTR_variant,,ENST00000541117,;FSHR,non_coding_transcript_exon_variant,,ENST00000469138,;FSHR,downstream_gene_variant,,ENST00000419927,;	763	249	248	SUCCESS
MOB1A	55233	.	GRCh37	2	74392236	74392236	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	20	0	ENST00000396049.4:c.409+109G>T		p.*137*	ENST00000396049	NM_018221.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46340.1	.	MUTECT|MUSE	.	GAGGCCAGGAG	NONE	.	.	.	.	.	ENSP00000379364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396049	Transcript	.	.	ENSG00000114978	16015	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MOB1A_HUMAN	MOB1A	HGNC	.	.	UPI0000028995	SNV	MOB1A,3_prime_UTR_variant,,ENST00000409969,;MOB1A,intron_variant,,ENST00000396049,;MOB1A,intron_variant,,ENST00000495286,;MOB1A,intron_variant,,ENST00000497054,;MOB1A,non_coding_transcript_exon_variant,,ENST00000463975,;	.	20	26	SUCCESS
EIF2AK3	9451	.	GRCh37	2	88857341	88857341	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	173	0	ENST00000303236.3:c.3264C>T	p.Leu1088=	p.L1088=	ENST00000303236	NM_004836.5	1088	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33241.1	3264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGAGCAC	NONE	.	.	Superfamily_domains:SSF56112,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF38	.	.	ENSP00000307235	.	17/17	.	.	.	.	.	.	.	.	COSM1483340,COSM1483339	17/17	PASS	ENST00000303236	Transcript	.	.	ENSG00000172071	3255	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	E2AK3_HUMAN	EIF2AK3	HGNC	E7ER02_HUMAN	.	UPI000013E87D	SNV	EIF2AK3,synonymous_variant,p.%3D,ENST00000419748,;EIF2AK3,synonymous_variant,p.%3D,ENST00000303236,;EIF2AK3,downstream_gene_variant,,ENST00000415570,;AC104134.2,intron_variant,,ENST00000413234,;	3566	173	147	SUCCESS
CCDC54	84692	.	GRCh37	3	107097051	107097051	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	352	40	342	0	ENST00000261058.1:c.617A>C	p.Asp206Ala	p.D206A	ENST00000261058	NM_032600.2	206	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS2949.1	617	MUTECT|MUSE|VARSCANS	.	CACTGACCATC	NONE	.	.	.	.	.	ENSP00000261058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000261058	Transcript	.	.	ENSG00000138483	30703	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.38)	.	CCD54_HUMAN	CCDC54	HGNC	.	.	UPI000006EB42	SNV	CCDC54,missense_variant,p.Asp206Ala,ENST00000261058,;RP11-446H18.5,intron_variant,,ENST00000599431,;RP11-446H18.5,intron_variant,,ENST00000593837,;RP11-446H18.5,downstream_gene_variant,,ENST00000595232,;	864	342	393	SUCCESS
POLQ	10721	.	GRCh37	3	121200637	121200637	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	35	138	0	ENST00000264233.5:c.5993C>T	p.Pro1998Leu	p.P1998L	ENST00000264233	NM_199420.3	1998	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33833.1	5993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTGGATCT	NONE	.	.	Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000264233	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Pro1998Leu,ENST00000264233,;POLQ,upstream_gene_variant,,ENST00000474243,;	6122	138	145	SUCCESS
COL6A6	131873	.	GRCh37	3	130287034	130287034	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	298	88	364	0	ENST00000358511.6:c.1987G>T	p.Val663Leu	p.V663L	ENST00000358511	NM_001102608.1	663	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS46911.1	1987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGTAGTC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453	.	.	ENSP00000351310	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.08)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Val663Leu,ENST00000453409,;COL6A6,missense_variant,p.Val663Leu,ENST00000358511,;	2018	365	386	SUCCESS
FGD5	152273	.	GRCh37	3	14939057	14939057	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	40	169	0	ENST00000285046.5:c.2790C>A	p.Asp930Glu	p.D930E	ENST00000285046	NM_152536.3	930	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS46767.1	2790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACCATGA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000285046	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000285046	Transcript	.	.	ENSG00000154783	19117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.35)	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,missense_variant,p.Asp930Glu,ENST00000285046,;FGD5,missense_variant,p.Asp689Glu,ENST00000543601,;FGD5,missense_variant,p.Asp114Glu,ENST00000457774,;FGD5,non_coding_transcript_exon_variant,,ENST00000468662,;FGD5,non_coding_transcript_exon_variant,,ENST00000476851,;	2900	169	144	SUCCESS
KCNMB3	27094	.	GRCh37	3	178960728	178960728	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	42	229	0	ENST00000314235.5:c.804T>C	p.Ile268=	p.I268=	ENST00000314235	NM_014407.3	268	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS3226.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATAATGCA	NONE	.	.	hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF4	.	.	ENSP00000319370	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314235	Transcript	.	.	ENSG00000171121	6287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA98	SNV	KCNMB3,synonymous_variant,p.%3D,ENST00000349697,;KCNMB3,synonymous_variant,p.%3D,ENST00000314235,;KCNMB3,synonymous_variant,p.%3D,ENST00000392685,;KCNMB3,synonymous_variant,p.%3D,ENST00000485523,;KCNMB3,intron_variant,,ENST00000497599,;PIK3CA,downstream_gene_variant,,ENST00000263967,;KCNMB3,intron_variant,,ENST00000486944,;KCNMB3,synonymous_variant,p.%3D,ENST00000392686,;	1316	229	228	SUCCESS
SENP5	205564	.	GRCh37	3	196613318	196613318	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	84	0	ENST00000323460.5:c.1266G>T	p.Val422=	p.V422=	ENST00000323460	NM_152699.4	422	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3322.1	1266	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGAGTAG	NONE	.	.	hmmpanther:PTHR12606:SF12,hmmpanther:PTHR12606	.	.	ENSP00000327197	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000323460	Transcript	.	.	ENSG00000119231	28407	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SENP5_HUMAN	SENP5	HGNC	C9JHT8_HUMAN	.	UPI00001AF3BE	SNV	SENP5,synonymous_variant,p.%3D,ENST00000323460,;SENP5,synonymous_variant,p.%3D,ENST00000445299,;SENP5,intron_variant,,ENST00000419026,;	1515	84	76	SUCCESS
SCN5A	6331	.	GRCh37	3	38640520	38640520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	19	79	0	ENST00000333535.4:c.1912G>A	p.Gly638Ser	p.G638S	ENST00000333535		638	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS46799.1	1912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCCTGGCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF11933,Prints_domain:PR01666	.	.	ENSP00000410257	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.75)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Gly638Ser,ENST00000449557,;SCN5A,missense_variant,p.Gly638Ser,ENST00000413689,;SCN5A,missense_variant,p.Gly638Ser,ENST00000423572,;SCN5A,missense_variant,p.Gly638Ser,ENST00000425664,;SCN5A,missense_variant,p.Gly638Ser,ENST00000414099,;SCN5A,missense_variant,p.Gly638Ser,ENST00000451551,;SCN5A,missense_variant,p.Gly638Ser,ENST00000450102,;SCN5A,missense_variant,p.Gly638Ser,ENST00000333535,;SCN5A,missense_variant,p.Gly638Ser,ENST00000455624,;SCN5A,missense_variant,p.Gly638Ser,ENST00000443581,;	2106	79	89	SUCCESS
CCK	885	.	GRCh37	3	42299622	42299622	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs533678433	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	16	127	0	ENST00000334681.5:c.316C>T	p.Arg106Cys	p.R106C	ENST00000334681		106	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS2696.1	316	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGACGGC	NONE	by1000G	.	hmmpanther:PTHR10786:SF0,hmmpanther:PTHR10786,Pfam_domain:PF00918,SMART_domains:SM00029	A:0	.	ENSP00000379472	A:0.001	5/5	.	.	.	.	.	.	.	.	rs533678433,COSM1200120	5/5	PASS	ENST00000396169	Transcript	.	A:0.0002	ENSG00000187094	1569	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.989)	A:0	deleterious(0)	0,1	CCKN_HUMAN	CCK	HGNC	Q6FG82_HUMAN	.	UPI00001272C3	SNV	CCK,missense_variant,p.Arg106Cys,ENST00000396169,;CCK,missense_variant,p.Arg106Cys,ENST00000334681,;CCK,missense_variant,p.Arg106Cys,ENST00000434608,;CCK,downstream_gene_variant,,ENST00000484359,;	1222	127	126	SUCCESS
DAG1	1605	.	GRCh37	3	49568955	49568955	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	69	0	ENST00000308775.2:c.1011G>T	p.Arg337Ser	p.R337S	ENST00000308775	NM_001177639.2	337	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS2799.1	1011	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGATCGT	NONE	.	.	hmmpanther:PTHR21559	.	.	ENSP00000442600	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000545947	Transcript	.	.	ENSG00000173402	2666	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DAG1_HUMAN	DAG1	HGNC	C9JYS1_HUMAN,C9JY76_HUMAN,C9JQL4_HUMAN,C9JEN1_HUMAN,C9JEH2_HUMAN,C9J6Z6_HUMAN,C9J196_HUMAN	.	UPI000013EDAE	SNV	DAG1,missense_variant,p.Arg337Ser,ENST00000308775,;DAG1,missense_variant,p.Arg337Ser,ENST00000545947,;DAG1,missense_variant,p.Arg337Ser,ENST00000539901,;DAG1,missense_variant,p.Arg337Ser,ENST00000515359,;DAG1,missense_variant,p.Arg337Ser,ENST00000541308,;DAG1,missense_variant,p.Arg337Ser,ENST00000538711,;DAG1,downstream_gene_variant,,ENST00000431960,;DAG1,downstream_gene_variant,,ENST00000421560,;DAG1,downstream_gene_variant,,ENST00000461492,;DAG1,downstream_gene_variant,,ENST00000479935,;	1733	69	55	SUCCESS
MST1	4485	.	GRCh37	3	49722082	49722082	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	21	138	1	ENST00000449682.2:c.1777A>G	p.Thr593Ala	p.T593A	ENST00000449682	NM_020998.3	593	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33757.2	1777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTCACAG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF43,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001152,SMART_domains:SM00020,PIRSF_domain:PIRSF500185,Superfamily_domains:SSF50494	.	.	ENSP00000414287	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000449682	Transcript	.	.	ENSG00000173531	7380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	.	MST1	HGNC	G3XAK1_HUMAN	.	UPI0000EE2A31	SNV	MST1,missense_variant,p.Thr63Ala,ENST00000448220,;MST1,missense_variant,p.Thr593Ala,ENST00000449682,;APEH,downstream_gene_variant,,ENST00000296456,;APEH,downstream_gene_variant,,ENST00000438011,;RNF123,upstream_gene_variant,,ENST00000454491,;RNF123,upstream_gene_variant,,ENST00000327697,;MST1,downstream_gene_variant,,ENST00000383728,;RNF123,upstream_gene_variant,,ENST00000432042,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,downstream_gene_variant,,ENST00000494828,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000484144,;AC099668.5,non_coding_transcript_exon_variant,,ENST00000563780,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000493836,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;MST1,downstream_gene_variant,,ENST00000494809,;APEH,downstream_gene_variant,,ENST00000480772,;APEH,downstream_gene_variant,,ENST00000469362,;RNF123,upstream_gene_variant,,ENST00000443204,;RNF123,upstream_gene_variant,,ENST00000486102,;MST1,downstream_gene_variant,,ENST00000492370,;RNF123,upstream_gene_variant,,ENST00000487805,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,downstream_gene_variant,,ENST00000498021,;MST1,downstream_gene_variant,,ENST00000484269,;MST1,downstream_gene_variant,,ENST00000489007,;MST1,downstream_gene_variant,,ENST00000497359,;MST1,downstream_gene_variant,,ENST00000481930,;MST1,downstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,downstream_gene_variant,,ENST00000480268,;APEH,downstream_gene_variant,,ENST00000482301,;RNF123,upstream_gene_variant,,ENST00000457726,;	2139	140	127	SUCCESS
ITIH1	3697	.	GRCh37	3	52824803	52824803	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	99	0	ENST00000273283.2:c.2360T>C	p.Val787Ala	p.V787A	ENST00000273283	NM_002215.3	787	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2864.1	2360	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTGTCTG	NONE	.	.	Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106	.	.	ENSP00000273283	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000273283	Transcript	.	.	ENSG00000055957	6166	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.863)	.	tolerated(0.18)	.	ITIH1_HUMAN	ITIH1	HGNC	.	.	UPI000012DA1C	SNV	ITIH1,missense_variant,p.Val499Ala,ENST00000537050,;ITIH1,missense_variant,p.Val787Ala,ENST00000273283,;ITIH1,missense_variant,p.Val340Ala,ENST00000428133,;ITIH1,missense_variant,p.Val153Ala,ENST00000405128,;ITIH1,missense_variant,p.Val645Ala,ENST00000540715,;ITIH1,3_prime_UTR_variant,,ENST00000542827,;ITIH3,upstream_gene_variant,,ENST00000416872,;ITIH3,upstream_gene_variant,,ENST00000449956,;ITIH1,non_coding_transcript_exon_variant,,ENST00000494705,;ITIH3,upstream_gene_variant,,ENST00000467268,;ITIH1,downstream_gene_variant,,ENST00000482836,;ITIH1,downstream_gene_variant,,ENST00000484844,;	2384	99	98	SUCCESS
PSMD6	9861	.	GRCh37	3	64009114	64009114	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs370801815	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	49	220	0	ENST00000295901.4:c.-19C>T		p.*7*	ENST00000295901	NM_014814.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2901.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGCTGA	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000295901	.	1/8	.	.	.	.	.	.	.	.	rs370801815	1/8	PASS	ENST00000295901	Transcript	.	.	ENSG00000163636	9564	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMD6_HUMAN	PSMD6	HGNC	.	.	UPI0000132787	SNV	PSMD6,5_prime_UTR_variant,,ENST00000497323,;PSMD6,5_prime_UTR_variant,,ENST00000492933,;PSMD6,5_prime_UTR_variant,,ENST00000482510,;PSMD6,5_prime_UTR_variant,,ENST00000295901,;PSMD6,5_prime_UTR_variant,,ENST00000478185,;PSMD6,intron_variant,,ENST00000394431,;PSMD6,upstream_gene_variant,,ENST00000480205,;RP11-245J9.6,downstream_gene_variant,,ENST00000605919,;PSMD6,non_coding_transcript_exon_variant,,ENST00000475036,;PSMD6,upstream_gene_variant,,ENST00000476464,;PSMD6,upstream_gene_variant,,ENST00000497315,;	123	220	204	SUCCESS
PDZRN3	23024	.	GRCh37	3	73673733	73673733	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	55	0	ENST00000263666.4:c.244T>C	p.Cys82Arg	p.C82R	ENST00000263666	NM_015009.1	82	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS33789.1	244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCACTTGA	NONE	.	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Gene3D:3.30.40.10,Superfamily_domains:SSF57850,Superfamily_domains:SSF49599	.	.	ENSP00000263666	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Cys82Arg,ENST00000263666,;PDZRN3,missense_variant,p.Cys82Arg,ENST00000308537,;PDZRN3-AS1,intron_variant,,ENST00000608304,;PDZRN3-AS1,intron_variant,,ENST00000478988,;PDZRN3-AS1,intron_variant,,ENST00000608743,;	359	55	68	SUCCESS
KIAA1109	84162	.	GRCh37	4	123236737	123236737	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	26	143	0	ENST00000264501.4:c.10433T>A	p.Leu3478Gln	p.L3478Q	ENST00000264501		3478	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS43267.1	10433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACTGACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	61/86	.	.	.	.	.	.	.	.	.	61/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Leu94Gln,ENST00000438707,;KIAA1109,missense_variant,p.Leu3478Gln,ENST00000455637,;KIAA1109,missense_variant,p.Leu3478Gln,ENST00000264501,;KIAA1109,missense_variant,p.Leu3478Gln,ENST00000388738,;KIAA1109,missense_variant,p.Leu1436Gln,ENST00000419325,;KIAA1109,splice_region_variant,,ENST00000421930,;	10806	143	143	SUCCESS
RXFP1	59350	.	GRCh37	4	159568324	159568324	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772504610	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	66	0	ENST00000307765.5:c.1727C>T	p.Ala576Val	p.A576V	ENST00000307765	NM_001253728.1	576	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43276.1	1727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCCAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303248	.	16/18	.	.	.	.	.	.	.	.	rs772504610	16/18	PASS	ENST00000307765	Transcript	.	.	ENSG00000171509	19718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	deleterious(0.01)	.	RXFP1_HUMAN	RXFP1	HGNC	Q4W5D9_HUMAN,E9PCA3_HUMAN	.	UPI000013EC4B	SNV	RXFP1,missense_variant,p.Ala471Val,ENST00000448688,;RXFP1,missense_variant,p.Ala543Val,ENST00000470033,;RXFP1,missense_variant,p.Ala576Val,ENST00000307765,;RXFP1,missense_variant,p.Ala495Val,ENST00000460056,;RXFP1,missense_variant,p.Ala528Val,ENST00000343542,;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,downstream_gene_variant,,ENST00000471616,;	1978	66	88	SUCCESS
TLL1	7092	.	GRCh37	4	167020507	167020507	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767146523	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	71	268	0	ENST00000061240.2:c.2735C>A	p.Pro912Gln	p.P912Q	ENST00000061240	NM_012464.4	912	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS3811.1	2735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCAGGAC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	20/21	.	.	.	.	.	.	.	.	rs767146523	20/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.03)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Pro912Gln,ENST00000061240,;TLL1,missense_variant,p.Pro935Gln,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	3382	268	256	SUCCESS
WDFY3	23001	.	GRCh37	4	85626603	85626603	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	30	131	0	ENST00000295888.4:c.8279C>T	p.Thr2760Ile	p.T2760I	ENST00000295888	NM_014991.4	2760	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3609.1	8279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGTTTGT	NONE	.	.	Superfamily_domains:SSF81837,SMART_domains:SM01026,Gene3D:1t77A02,Pfam_domain:PF02138,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743,PROSITE_profiles:PS50197	.	.	ENSP00000295888	.	54/68	.	.	.	.	.	.	.	.	.	54/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Thr363Ile,ENST00000514711,;WDFY3,missense_variant,p.Thr2760Ile,ENST00000295888,;WDFY3,missense_variant,p.Thr2743Ile,ENST00000322366,;	8687	131	150	SUCCESS
MAN2A1	4124	.	GRCh37	5	109120580	109120580	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	605	162	595	1	ENST00000261483.4:c.1713T>A	p.Ala571=	p.A571=	ENST00000261483	NM_002372.2	571	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34209.1	1713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTATCAC	BUFFER|p.G574G|c.1722A>G|3	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Pfam_domain:PF09261,Gene3D:3bvxA02,SMART_domains:SM00872,Superfamily_domains:SSF88688	.	.	ENSP00000261483	.	10/22	.	.	.	.	.	.	.	.	COSM3826530	10/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,synonymous_variant,p.%3D,ENST00000261483,;	2765	596	768	SUCCESS
PSD2	84249	.	GRCh37	5	139219625	139219625	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200345805	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	62	0	ENST00000274710.3:c.1982G>A	p.Arg661Gln	p.R661Q	ENST00000274710	NM_032289.2	661	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS4216.1	1982	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGGTCTC	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	A:0.0002	ENSP00000274710	.	14/15	.	.	.	.	.	.	.	.	rs200345805,COSM1642614	14/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.006)	.	tolerated(0.26)	0,1	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Arg661Gln,ENST00000274710,;	2187	62	55	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140793290	140793290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	76	0	ENST00000398610.2:c.548C>A	p.Ser183Tyr	p.S183Y	ENST00000398610	NM_018913.2	183	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS47292.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCCTAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious_low_confidence(0.01)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Ser183Tyr,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	548	76	77	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140799322	140799322	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	81	0	ENST00000398594.2:c.1896G>C	p.Leu632Phe	p.L632F	ENST00000398594	NM_018927.3	632	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS47293.1	1896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTGGGTGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.21)	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,missense_variant,p.Leu632Phe,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1896	81	91	SUCCESS
MRPL22	29093	.	GRCh37	5	154320807	154320807	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	39	120	0	ENST00000523037.1:c.63del	p.Lys22SerfsTer53	p.K22Sfs*53	ENST00000523037	NM_014180.3	20	cGg/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS4331.1	59	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGCCGGGGGA	NONE	.	.	hmmpanther:PTHR13501	.	.	ENSP00000431040	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000523037	Transcript	.	.	ENSG00000082515	14480	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RM22_HUMAN	MRPL22	HGNC	.	.	UPI0000046801	deletion	MRPL22,frameshift_variant,p.Lys22SerfsTer53,ENST00000523037,;MRPL22,frameshift_variant,p.Lys22SerfsTer59,ENST00000522038,;MRPL22,frameshift_variant,p.Lys48SerfsTer53,ENST00000439747,;MRPL22,5_prime_UTR_variant,,ENST00000265229,;GEMIN5,upstream_gene_variant,,ENST00000285873,;MRPL22,frameshift_variant,p.Lys26SerfsTer16,ENST00000519059,;	100	120	197	SUCCESS
SLC34A1	6569	.	GRCh37	5	176825095	176825095	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	323	140	427	0	ENST00000324417.5:c.1728G>A	p.Trp576Ter	p.W576*	ENST00000324417	NM_003052.4	576	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS4418.1	1728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGGACTT	NONE	.	.	TIGRFAM_domain:TIGR01013,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF21	.	.	ENSP00000321424	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000324417	Transcript	1	.	ENSG00000131183	11019	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT2A_HUMAN	SLC34A1	HGNC	Q05BP0_HUMAN,D6RCE5_HUMAN	.	UPI0000130408	SNV	SLC34A1,stop_gained,p.Trp576Ter,ENST00000324417,;F12,downstream_gene_variant,,ENST00000253496,;PFN3,downstream_gene_variant,,ENST00000358571,;SLC34A1,non_coding_transcript_exon_variant,,ENST00000513614,;F12,downstream_gene_variant,,ENST00000514943,;F12,downstream_gene_variant,,ENST00000504406,;F12,downstream_gene_variant,,ENST00000502854,;SLC34A1,downstream_gene_variant,,ENST00000507685,;F12,downstream_gene_variant,,ENST00000510358,;	1819	427	463	SUCCESS
TNPO1	3842	.	GRCh37	5	72179050	72179050	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	85	317	0	ENST00000337273.5:c.1141T>A	p.Trp381Arg	p.W381R	ENST00000337273	NM_002270.3	381	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS43329.1	1141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACTGGAAT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	SNV	TNPO1,missense_variant,p.Trp373Arg,ENST00000506351,;TNPO1,missense_variant,p.Trp331Arg,ENST00000454282,;TNPO1,missense_variant,p.Trp331Arg,ENST00000523768,;TNPO1,missense_variant,p.Trp381Arg,ENST00000337273,;TNPO1,downstream_gene_variant,,ENST00000447967,;MIR4804,downstream_gene_variant,,ENST00000581683,;TNPO1,non_coding_transcript_exon_variant,,ENST00000505082,;TNPO1,downstream_gene_variant,,ENST00000508762,;TNPO1,downstream_gene_variant,,ENST00000520850,;CTD-2339M3.1,upstream_gene_variant,,ENST00000497334,;	1567	317	317	SUCCESS
NCOA7	135112	.	GRCh37	6	126176369	126176369	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	87	0	ENST00000368357.3:c.254A>G	p.Lys85Arg	p.K85R	ENST00000368357	NM_001199619.1	85	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5132.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAAAGAGAT	NONE	.	.	hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354	.	.	ENSP00000357341	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000368357	Transcript	.	.	ENSG00000111912	21081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	deleterious(0.03)	.	NCOA7_HUMAN	NCOA7	HGNC	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN	.	UPI00001AE66D	SNV	NCOA7,missense_variant,p.Lys85Arg,ENST00000453302,;NCOA7,missense_variant,p.Lys85Arg,ENST00000392477,;NCOA7,missense_variant,p.Lys85Arg,ENST00000368357,;NCOA7,missense_variant,p.Lys85Arg,ENST00000419660,;NCOA7,missense_variant,p.Lys85Arg,ENST00000428318,;NCOA7,missense_variant,p.Lys85Arg,ENST00000417494,;NCOA7,intron_variant,,ENST00000229634,;NCOA7,non_coding_transcript_exon_variant,,ENST00000487635,;	606	87	92	SUCCESS
TBC1D22B	55633	.	GRCh37	6	37281660	37281660	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	32	156	0	ENST00000373491.3:c.1158G>T	p.Arg386=	p.R386=	ENST00000373491	NM_017772.2	386	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4832.1	1158	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGATTGA	NONE	.	.	Superfamily_domains:SSF47923,Superfamily_domains:SSF47923,SMART_domains:SM00164,Pfam_domain:PF00566,hmmpanther:PTHR22957:SF239,hmmpanther:PTHR22957,PROSITE_profiles:PS50086	.	.	ENSP00000362590	.	10/13	.	.	.	.	.	.	.	.	COSM1444136	10/13	PASS	ENST00000373491	Transcript	.	.	ENSG00000065491	21602	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	TB22B_HUMAN	TBC1D22B	HGNC	Q6P4C3_HUMAN,A8KA28_HUMAN	.	UPI00001C121F	SNV	TBC1D22B,synonymous_variant,p.%3D,ENST00000373491,;	1304	156	172	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90572716	90572716	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	66	252	0	ENST00000551025.1:n.2725G>T		p.*909*	ENST00000551025				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGATGGA	NONE	.	.	.	.	.	.	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000551025	Transcript	.	.	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,intron_variant,,ENST00000548224,;CASP8AP2,downstream_gene_variant,,ENST00000444163,;CASP8AP2,downstream_gene_variant,,ENST00000419040,;CASP8AP2,downstream_gene_variant,,ENST00000552401,;	2725	253	235	SUCCESS
GIGYF1	64599	.	GRCh37	7	100285497	100285497	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	83	0	ENST00000275732.5:c.175G>C	p.Glu59Gln	p.E59Q	ENST00000275732	NM_022574.4	59	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34708.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCTTCCG	NONE	.	.	hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37	.	.	ENSP00000275732	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000275732	Transcript	.	.	ENSG00000146830	9126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.1)	.	PERQ1_HUMAN	GIGYF1	HGNC	.	.	UPI00001BD8AD	SNV	GIGYF1,missense_variant,p.Glu59Gln,ENST00000275732,;GIGYF1,non_coding_transcript_exon_variant,,ENST00000471340,;GIGYF1,upstream_gene_variant,,ENST00000472105,;GIGYF1,upstream_gene_variant,,ENST00000464111,;	1385	83	105	SUCCESS
DOCK4	9732	.	GRCh37	7	111398823	111398823	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	26	88	0	ENST00000437633.1:c.4159C>A	p.Pro1387Thr	p.P1387T	ENST00000437633	NM_014705.3	1387	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47688.1	4159	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGAGTCA	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75	.	.	ENSP00000404179	.	40/52	.	.	.	.	.	.	.	.	.	40/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Pro1420Thr,ENST00000445943,;DOCK4,missense_variant,p.Pro1396Thr,ENST00000428084,;DOCK4,missense_variant,p.Pro270Thr,ENST00000494651,;DOCK4,missense_variant,p.Pro848Thr,ENST00000423057,;DOCK4,missense_variant,p.Pro1387Thr,ENST00000437633,;DOCK4,downstream_gene_variant,,ENST00000428053,;	4416	88	131	SUCCESS
CPED1	79974	.	GRCh37	7	120906375	120906375	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	16	104	0	ENST00000310396.5:c.2405G>T	p.Gly802Val	p.G802V	ENST00000310396	NM_024913.4	802	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34739.1	2405	RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGCACTA	NONE	.	.	hmmpanther:PTHR14776,Pfam_domain:PF13839	.	.	ENSP00000309772	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000310396	Transcript	.	.	ENSG00000106034	26159	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	CPED1_HUMAN	CPED1	HGNC	Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN	.	UPI000013C813	SNV	CPED1,missense_variant,p.Gly802Val,ENST00000310396,;CPED1,downstream_gene_variant,,ENST00000423795,;CPED1,downstream_gene_variant,,ENST00000450913,;CPED1,downstream_gene_variant,,ENST00000466055,;	2872	104	146	SUCCESS
AASS	10157	.	GRCh37	7	121758381	121758381	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772971021	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	46	0	ENST00000393376.1:c.667G>A	p.Gly223Arg	p.G223R	ENST00000393376		223	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5783.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCTGTGA	NONE	.	.	hmmpanther:PTHR11133:SF11,hmmpanther:PTHR11133,Gene3D:3.40.50.1770,Pfam_domain:PF01262,SMART_domains:SM01002,Superfamily_domains:SSF52283	.	.	ENSP00000377040	.	5/23	.	.	.	.	.	.	.	.	rs772971021	5/23	PASS	ENST00000393376	Transcript	.	.	ENSG00000008311	17366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AASS_HUMAN	AASS	HGNC	A4D0W4_HUMAN	.	UPI000004A105	SNV	AASS,missense_variant,p.Gly223Arg,ENST00000417368,;AASS,missense_variant,p.Gly223Arg,ENST00000393376,;AASS,intron_variant,,ENST00000473553,;AASS,missense_variant,p.Gly223Arg,ENST00000358954,;AASS,missense_variant,p.Gly223Arg,ENST00000431170,;	763	46	85	SUCCESS
OSBPL3	26031	.	GRCh37	7	24870414	24870414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	32	110	0	ENST00000313367.2:c.1857C>A	p.Asp619Glu	p.D619E	ENST00000313367	NM_015550.2	619	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5390.1	1857	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGTCCTC	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15	.	.	ENSP00000315410	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000313367	Transcript	.	.	ENSG00000070882	16370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.11)	.	OSBL3_HUMAN	OSBPL3	HGNC	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN	.	UPI0000001244	SNV	OSBPL3,missense_variant,p.Asp552Glu,ENST00000431825,;OSBPL3,missense_variant,p.Asp583Glu,ENST00000396429,;OSBPL3,missense_variant,p.Asp588Glu,ENST00000352860,;OSBPL3,missense_variant,p.Asp552Glu,ENST00000409069,;OSBPL3,missense_variant,p.Asp583Glu,ENST00000353930,;OSBPL3,missense_variant,p.Asp619Glu,ENST00000313367,;OSBPL3,missense_variant,p.Asp588Glu,ENST00000396431,;OSBPL3,3_prime_UTR_variant,,ENST00000409555,;OSBPL3,3_prime_UTR_variant,,ENST00000409452,;OSBPL3,3_prime_UTR_variant,,ENST00000409863,;OSBPL3,3_prime_UTR_variant,,ENST00000409759,;	2309	110	132	SUCCESS
GTF2IRD2	84163	.	GRCh37	7	74211700	74211700	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	102	209	0	ENST00000451013.2:c.792G>T	p.Gly264=	p.G264=	ENST00000451013		264	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5576.1	2151	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGCCCGCG	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF35,Superfamily_domains:SSF53098	.	.	ENSP00000385491	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000405086	Transcript	.	.	ENSG00000196275	30775	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GTD2A_HUMAN	GTF2IRD2	HGNC	.	.	UPI0000246D34	SNV	GTF2IRD2,synonymous_variant,p.%3D,ENST00000451013,;GTF2IRD2,synonymous_variant,p.%3D,ENST00000405086,;GTF2IRD2,downstream_gene_variant,,ENST00000453619,;GTF2IRD2,downstream_gene_variant,,ENST00000361071,;STAG3L2,intron_variant,,ENST00000380775,;	2341	210	291	SUCCESS
POR	5447	.	GRCh37	7	75583458	75583458	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1347157369	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	11	113	0	ENST00000394893.1:c.148A>G	p.Lys50Glu	p.K50E	ENST00000394893		50	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS5579.1	148	MUTECT|MUSE	.	GAAAGAAAAAA	NONE	.	.	hmmpanther:PTHR19384,PIRSF_domain:PIRSF000208	.	.	ENSP00000419970	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000461988	Transcript	.	.	ENSG00000127948	9208	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	deleterious(0.03)	.	NCPR_HUMAN	POR	HGNC	Q59ED7_HUMAN,E7EMD0_HUMAN,C9JQ78_HUMAN	.	UPI000013D5F4	SNV	POR,missense_variant,p.Lys50Glu,ENST00000432753,;POR,missense_variant,p.Lys50Glu,ENST00000414186,;POR,missense_variant,p.Lys50Glu,ENST00000394893,;POR,missense_variant,p.Lys50Glu,ENST00000461988,;POR,missense_variant,p.Lys50Glu,ENST00000453773,;POR,missense_variant,p.Lys50Glu,ENST00000412521,;POR,missense_variant,p.Lys50Glu,ENST00000418341,;POR,missense_variant,p.Lys50Glu,ENST00000439963,;POR,missense_variant,p.Lys23Glu,ENST00000447222,;POR,missense_variant,p.Lys50Glu,ENST00000449920,;POR,5_prime_UTR_variant,,ENST00000419840,;POR,downstream_gene_variant,,ENST00000421059,;POR,missense_variant,p.Lys50Glu,ENST00000454934,;POR,missense_variant,p.Lys50Glu,ENST00000412064,;POR,missense_variant,p.Lys50Glu,ENST00000448410,;POR,non_coding_transcript_exon_variant,,ENST00000471238,;	253	113	157	SUCCESS
FBXO43	286151	.	GRCh37	8	101146559	101146559	+	synonymous_variant	Silent	SNP	G	G	T	rs754860127	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	315	37	105	0	ENST00000428847.2:c.1708C>A	p.Arg570=	p.R570=	ENST00000428847	NM_001029860.3	570	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47904.1	1708	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGAGTGG	NONE	byFrequency	.	hmmpanther:PTHR15493:SF1,hmmpanther:PTHR15493	.	.	ENSP00000403293	.	4/5	.	.	.	.	.	.	.	.	rs754860127,COSM1755480,COSM1755481,COSM1755479	4/5	PASS	ENST00000428847	Transcript	.	.	ENSG00000156509	28521	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	.	.	.	0,1,1,1	FBX43_HUMAN	FBXO43	HGNC	.	.	UPI000013DE8F	SNV	FBXO43,synonymous_variant,p.%3D,ENST00000428847,;RGS22,upstream_gene_variant,,ENST00000520117,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,downstream_gene_variant,,ENST00000520987,;	2025	105	352	SUCCESS
SLC30A8	169026	.	GRCh37	8	118159313	118159313	+	synonymous_variant	Silent	SNP	G	G	A	rs762011807	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	370	89	158	0	ENST00000456015.2:c.192G>A	p.Ala64=	p.A64=	ENST00000456015	NM_173851.2	64	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6322.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGAATGA	BUFFER|p.A64V|c.191C>T|5	byFrequency	.	hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562	.	.	ENSP00000415011	.	2/8	.	.	.	.	.	.	.	.	rs762011807	2/8	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,synonymous_variant,p.%3D,ENST00000427715,;SLC30A8,synonymous_variant,p.%3D,ENST00000456015,;SLC30A8,synonymous_variant,p.%3D,ENST00000519688,;SLC30A8,synonymous_variant,p.%3D,ENST00000521243,;SLC30A8,synonymous_variant,p.%3D,ENST00000524274,;SLC30A8,downstream_gene_variant,,ENST00000521035,;SLC30A8,non_coding_transcript_exon_variant,,ENST00000520469,;SLC30A8,non_coding_transcript_exon_variant,,ENST00000518396,;SLC30A8,non_coding_transcript_exon_variant,,ENST00000518521,;	192	158	459	SUCCESS
KCNB2	9312	.	GRCh37	8	73848214	73848214	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	264	156	146	0	ENST00000523207.1:c.624T>C	p.Ile208=	p.I208=	ENST00000523207	NM_004770.2	208	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS6209.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATTGCTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000430846	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,synonymous_variant,p.%3D,ENST00000523207,;	1212	146	420	SUCCESS
KCNB2	9312	.	GRCh37	8	73848327	73848327	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	496	39	189	0	ENST00000523207.1:c.737T>C	p.Met246Thr	p.M246T	ENST00000523207	NM_004770.2	246	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS6209.1	737	MUTECT|MUSE	.	TACCATGGAGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000430846	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.574)	.	deleterious(0.03)	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Met246Thr,ENST00000523207,;	1325	189	535	SUCCESS
NKAP	79576	.	GRCh37	X	119077649	119077649	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	19	0	ENST00000371410.3:c.-81C>T		p.*27*	ENST00000371410	NM_024528.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14592.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGGGACC	NONE	.	.	.	.	.	ENSP00000360464	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000371410	Transcript	.	.	ENSG00000101882	29873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKAP_HUMAN	NKAP	HGNC	.	.	UPI000004A07B	SNV	NKAP,5_prime_UTR_variant,,ENST00000371410,;	87	19	29	SUCCESS
PRKX	5613	.	GRCh37	X	3573254	3573254	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	47	119	0	ENST00000262848.5:c.535C>T	p.Leu179=	p.L179=	ENST00000262848	NM_005044.4	179	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14125.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGGATGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262848	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000262848	Transcript	.	.	ENSG00000183943	9441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKX_HUMAN	PRKX	HGNC	.	.	UPI000000D998	SNV	PRKX,synonymous_variant,p.%3D,ENST00000262848,;PRKX-AS1,upstream_gene_variant,,ENST00000414074,;PRKX,non_coding_transcript_exon_variant,,ENST00000425240,;	890	119	107	SUCCESS
NDP	4693	.	GRCh37	X	43817918	43817918	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	42	0	ENST00000378062.5:c.-27C>T		p.*9*	ENST00000378062	NM_000266.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14262.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAGAACAG	NONE	.	.	.	.	.	ENSP00000367301	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000378062	Transcript	.	.	ENSG00000124479	7678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDP_HUMAN	NDP	HGNC	.	.	UPI00000012E1	SNV	NDP,5_prime_UTR_variant,,ENST00000378062,;NDP-AS1,intron_variant,,ENST00000435093,;NDP,intron_variant,,ENST00000470584,;	382	42	38	SUCCESS
KIAA1598	0	.	GRCh37	10	118711419	118711419	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	104	0	ENST00000355371.4:c.534+1G>A		p.X178_splice	ENST00000355371	NM_001258299.1	178		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44482.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACATACTTCTT	NONE	.	.	.	.	.	ENSP00000347532	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355371	Transcript	.	.	ENSG00000187164	29319	.	.	HIGH	6/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SHOT1_HUMAN	KIAA1598	HGNC	.	.	UPI0000404A8F	SNV	KIAA1598,splice_donor_variant,,ENST00000260777,;KIAA1598,splice_donor_variant,,ENST00000392903,;KIAA1598,splice_donor_variant,,ENST00000392901,;KIAA1598,splice_donor_variant,,ENST00000355371,;KIAA1598,splice_donor_variant,,ENST00000497044,;KIAA1598,downstream_gene_variant,,ENST00000490615,;	.	104	107	SUCCESS
C10orf90	118611	.	GRCh37	10	128153451	128153451	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761130977	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	7	112	0	ENST00000284694.7:c.1348C>T	p.Pro450Ser	p.P450S	ENST00000284694	NM_001004298.2	450	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31310.1	1348	MUTECT|MUSE	.	AATGGGAAGGA	NONE	.	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553	.	.	ENSP00000284694	.	4/9	.	.	.	.	.	.	.	.	rs761130977	4/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.06)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Pro450Ser,ENST00000432642,;C10orf90,missense_variant,p.Pro450Ser,ENST00000284694,;C10orf90,missense_variant,p.Pro403Ser,ENST00000356858,;C10orf90,missense_variant,p.Pro547Ser,ENST00000544758,;C10orf90,intron_variant,,ENST00000454341,;C10orf90,intron_variant,,ENST00000424927,;C10orf90,upstream_gene_variant,,ENST00000480379,;	1469	112	138	SUCCESS
TIMM23	100287932	.	GRCh37	10	51592507	51592507	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	12	90	0	ENST00000260867.4:c.627C>G	p.Leu209=	p.L209=	ENST00000260867	NM_006327.3	209	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS7238.1	627	MUTECT|MUSE|VARSCANS	.	CTTCAGAGTGA	NONE	.	.	hmmpanther:PTHR15371	.	.	ENSP00000260867	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000260867	Transcript	.	.	ENSG00000138297	17312	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIM23_HUMAN	TIMM23	HGNC	.	.	UPI000012D5D8	SNV	TIMM23,synonymous_variant,p.%3D,ENST00000374064,;TIMM23,synonymous_variant,p.%3D,ENST00000260867,;TIMM23,synonymous_variant,p.%3D,ENST00000374065,;TIMM23,synonymous_variant,p.%3D,ENST00000444743,;NCOA4,downstream_gene_variant,,ENST00000374082,;NCOA4,downstream_gene_variant,,ENST00000430396,;NCOA4,downstream_gene_variant,,ENST00000452682,;NCOA4,downstream_gene_variant,,ENST00000344348,;NCOA4,downstream_gene_variant,,ENST00000414907,;NCOA4,downstream_gene_variant,,ENST00000443446,;NCOA4,downstream_gene_variant,,ENST00000374087,;NCOA4,downstream_gene_variant,,ENST00000438493,;TIMM23,non_coding_transcript_exon_variant,,ENST00000485812,;TIMM23,non_coding_transcript_exon_variant,,ENST00000476778,;TIMM23,downstream_gene_variant,,ENST00000469116,;	751	90	114	SUCCESS
FAM21A	0	.	GRCh37	10	51829449	51829449	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	17	178	0	ENST00000282633.5:c.269C>G	p.Ser90Cys	p.S90C	ENST00000282633	NM_001005751.1	90	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS41527.1	269	MUTECT|MUSE|VARSCANS	.	GCTCTCTAATA	NONE	.	.	hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669	.	.	ENSP00000282633	.	3/31	.	.	.	.	.	.	.	.	.	3/31	PASS	ENST00000282633	Transcript	.	.	ENSG00000099290	23416	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA21A_HUMAN	FAM21A	HGNC	Q6P0Q7_HUMAN,Q5SNT8_HUMAN,B4E255_HUMAN	.	UPI000044FEAB	SNV	FAM21A,missense_variant,p.Ser90Cys,ENST00000351071,;FAM21A,missense_variant,p.Ser90Cys,ENST00000282633,;FAM21A,missense_variant,p.Ser90Cys,ENST00000314664,;FAM21A,non_coding_transcript_exon_variant,,ENST00000492914,;RP11-324H6.5,upstream_gene_variant,,ENST00000456967,;FAM21A,missense_variant,p.Ser90Cys,ENST00000434114,;	314	178	182	SUCCESS
TRPC6	7225	.	GRCh37	11	101375497	101375497	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369866012	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	78	0	ENST00000344327.3:c.203G>A	p.Arg68Gln	p.R68Q	ENST00000344327	NM_004621.5	68	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8311.1	203	MUTECT|MUSE|VARSCANS	.	TCTGCCGCCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7	.	T:0.0001	ENSP00000340913	.	2/13	.	.	.	.	.	.	.	.	rs369866012	2/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	deleterious_low_confidence(0.05)	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,missense_variant,p.Arg68Gln,ENST00000532133,;TRPC6,missense_variant,p.Arg68Gln,ENST00000348423,;TRPC6,missense_variant,p.Arg68Gln,ENST00000344327,;TRPC6,missense_variant,p.Arg68Gln,ENST00000360497,;TRPC6,non_coding_transcript_exon_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;	628	78	79	SUCCESS
MMP13	4322	.	GRCh37	11	102824960	102824960	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	32	226	0	ENST00000260302.3:c.562G>C	p.Ala188Pro	p.A188P	ENST00000260302	NM_002427.3	188	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS8324.1	562	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCATGAG	NONE	.	.	hmmpanther:PTHR10201:SF130,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000260302	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000260302	Transcript	.	.	ENSG00000137745	7159	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MMP13_HUMAN	MMP13	HGNC	Q6LBE5_HUMAN	.	UPI00000422BC	SNV	MMP13,missense_variant,p.Ala188Pro,ENST00000260302,;MMP13,missense_variant,p.Ala188Pro,ENST00000340273,;	591	226	267	SUCCESS
NCAM1	4684	.	GRCh37	11	113075222	113075222	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	68	0	ENST00000316851.7:c.312C>A	p.Ile104=	p.I104=	ENST00000316851	NM_181351.4	104	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	.	519	MUTECT|MUSE|VARSCANS	.	AAGATCTTTCG	BUFFER|p.Q115*|c.343C>T|4,BUFFER|p.Q106*|c.316C>T|5,BUFFER|p.Q106*|c.316C>T|5	.	.	Prints_domain:PR01838,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34	.	.	ENSP00000474028	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,synonymous_variant,p.%3D,ENST00000534015,;NCAM1,synonymous_variant,p.%3D,ENST00000524665,;NCAM1,synonymous_variant,p.%3D,ENST00000401611,;NCAM1,synonymous_variant,p.%3D,ENST00000316851,;NCAM1,5_prime_UTR_variant,,ENST00000533760,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529420,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529356,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525973,;NCAM1,intron_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000526427,;	519	68	54	SUCCESS
SORL1	6653	.	GRCh37	11	121384869	121384869	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	15	94	0	ENST00000260197.7:c.1050del	p.Tyr350Ter	p.Y350*	ENST00000260197	NM_003105.5	350	taC/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS8436.1	1050	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATTACATCGC	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602	.	.	ENSP00000260197	.	8/48	.	.	.	.	.	.	.	.	.	8/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	deletion	SORL1,frameshift_variant,p.Tyr350Ter,ENST00000260197,;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	1179	94	118	SUCCESS
SNX19	399979	.	GRCh37	11	130784212	130784212	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	70	0	ENST00000265909.4:c.1623C>T	p.Ala541=	p.A541=	ENST00000265909	NM_014758.2	541	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31721.1	1623	MUTECT|MUSE	.	TCTCGGGCTGT	NONE	.	.	Superfamily_domains:SSF64268,SMART_domains:SM00312,Gene3D:3.30.1520.10,Pfam_domain:PF00787,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27,PROSITE_profiles:PS50195	.	.	ENSP00000265909	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,synonymous_variant,p.%3D,ENST00000533214,;SNX19,synonymous_variant,p.%3D,ENST00000265909,;SNX19,intron_variant,,ENST00000528555,;SNX19,intron_variant,,ENST00000539184,;SNX19,intron_variant,,ENST00000530356,;SNX19,upstream_gene_variant,,ENST00000545537,;SNX19,intron_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,intron_variant,,ENST00000531608,;	2193	70	57	SUCCESS
SLC43A1	8501	.	GRCh37	11	57258743	57258743	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	9	157	0	ENST00000278426.3:c.1147G>T	p.Asp383Tyr	p.D383Y	ENST00000278426	NM_003627.5	383	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS7958.1	1147	MUTECT|MUSE	.	GCAGTCCTTGA	NONE	.	.	hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF0,Pfam_domain:PF07690,Gene3D:1.20.1250.20	.	.	ENSP00000278426	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000278426	Transcript	.	.	ENSG00000149150	9225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	LAT3_HUMAN	SLC43A1	HGNC	E9PJT8_HUMAN,B3KNL1_HUMAN	.	UPI0000071F2B	SNV	SLC43A1,missense_variant,p.Asp383Tyr,ENST00000528450,;SLC43A1,missense_variant,p.Asp383Tyr,ENST00000278426,;SLC43A1,intron_variant,,ENST00000525764,;SLC43A1,downstream_gene_variant,,ENST00000533066,;SLC43A1,downstream_gene_variant,,ENST00000533515,;SLC43A1,3_prime_UTR_variant,,ENST00000534298,;SLC43A1,non_coding_transcript_exon_variant,,ENST00000529452,;SLC43A1,downstream_gene_variant,,ENST00000530159,;	1503	157	129	SUCCESS
WSCD2	9671	.	GRCh37	12	108603913	108603913	+	synonymous_variant	Silent	SNP	C	C	T	rs766850790	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	106	1	ENST00000332082.4:c.513C>T	p.Gly171=	p.G171=	ENST00000332082		171	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41828.1	513	RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCGGGCT	NONE	byFrequency	.	SMART_domains:SM00321,Pfam_domain:PF01822,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,PROSITE_profiles:PS51212	.	.	ENSP00000331933	.	5/10	.	.	.	.	.	.	.	.	rs766850790,COSM51040,COSM4135714	5/10	PASS	ENST00000332082	Transcript	.	.	ENSG00000075035	29117	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	WSCD2_HUMAN	WSCD2	HGNC	F8W030_HUMAN	.	UPI00001C1F3A	SNV	WSCD2,synonymous_variant,p.%3D,ENST00000551638,;WSCD2,synonymous_variant,p.%3D,ENST00000549903,;WSCD2,synonymous_variant,p.%3D,ENST00000332082,;WSCD2,synonymous_variant,p.%3D,ENST00000547525,;WSCD2,synonymous_variant,p.%3D,ENST00000261400,;	1331	107	90	SUCCESS
SLC6A15	55117	.	GRCh37	12	85267040	85267040	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	25	262	0	ENST00000266682.5:c.935T>G	p.Leu312Arg	p.L312R	ENST00000266682	NM_182767.5	312	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS9026.1	935	MUTECT|MUSE|VARSCANS	.	ATCCCAGACCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000266682	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Leu20Arg,ENST00000309283,;SLC6A15,missense_variant,p.Leu205Arg,ENST00000552192,;SLC6A15,missense_variant,p.Leu28Arg,ENST00000551612,;SLC6A15,missense_variant,p.Leu312Arg,ENST00000266682,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000551388,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000551818,;	1477	262	269	SUCCESS
NEK3	4752	.	GRCh37	13	52715206	52715206	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	32	0	ENST00000400357.2:c.876+2845G>A		p.*292*	ENST00000400357				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53871.1	.	RADIA|MUSE|VARSCANS	.	GTTTGCTTTTA	NONE	.	.	.	.	.	ENSP00000383210	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400357	Transcript	.	.	ENSG00000136098	7746	.	.	MODIFIER	9/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEK3_HUMAN	NEK3	HGNC	F8VV00_HUMAN	.	UPI0000E59B02	SNV	NEK3,missense_variant,p.Ala293Thr,ENST00000378101,;NEK3,missense_variant,p.Ala293Thr,ENST00000339406,;NEK3,intron_variant,,ENST00000400357,;NEK3,intron_variant,,ENST00000452082,;NEK3,splice_acceptor_variant,,ENST00000258597,;NEK3,splice_acceptor_variant,,ENST00000548127,;NEK3,splice_acceptor_variant,,ENST00000547820,;NEK3,downstream_gene_variant,,ENST00000551355,;	.	32	23	SUCCESS
SCEL	8796	.	GRCh37	13	78202112	78202112	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	674	95	535	0	ENST00000349847.3:c.1659A>T	p.Val553=	p.V553=	ENST00000349847	NM_144777.2	553	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9459.1	1659	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTAAATTC	NONE	.	.	hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468	.	.	ENSP00000302579	.	28/33	.	.	.	.	.	.	.	.	.	28/33	PASS	ENST00000349847	Transcript	.	.	ENSG00000136155	10573	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCEL_HUMAN	SCEL	HGNC	.	.	UPI000013CFF1	SNV	SCEL,synonymous_variant,p.%3D,ENST00000377246,;SCEL,synonymous_variant,p.%3D,ENST00000349847,;SCEL,synonymous_variant,p.%3D,ENST00000535157,;RNY3P7,downstream_gene_variant,,ENST00000384073,;	1743	535	770	SUCCESS
ELMSAN1	0	.	GRCh37	14	74196641	74196641	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	58	0	ENST00000286523.5:c.1797del	p.Lys599AsnfsTer42	p.K599Nfs*42	ENST00000286523	NM_194278.3	599	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS9819.1	1797	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTGGTTTCCG	NONE	.	.	hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089	.	.	ENSP00000286523	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000286523	Transcript	.	.	ENSG00000156030	19853	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EMSA1_HUMAN	ELMSAN1	HGNC	F6RU81_HUMAN,C9JYU7_HUMAN	.	UPI00001FD815	deletion	ELMSAN1,frameshift_variant,p.Lys599AsnfsTer42,ENST00000435371,;ELMSAN1,frameshift_variant,p.Lys599AsnfsTer42,ENST00000394071,;ELMSAN1,frameshift_variant,p.Lys599AsnfsTer42,ENST00000286523,;ELMSAN1,frameshift_variant,p.Lys599AsnfsTer42,ENST00000423556,;ELMSAN1,3_prime_UTR_variant,,ENST00000451078,;ELMSAN1,upstream_gene_variant,,ENST00000476562,;ELMSAN1,upstream_gene_variant,,ENST00000483269,;ELMSAN1,upstream_gene_variant,,ENST00000462716,;	2580	58	61	SUCCESS
ATP10A	57194	.	GRCh37	15	25925038	25925038	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	17	0	ENST00000356865.6:c.3950G>A	p.Arg1317Lys	p.R1317K	ENST00000356865	NM_024490.3	1317	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS32178.1	3950	MUTECT|MUSE	.	TGCATCTCCTG	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43	.	.	ENSP00000349325	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.8)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Arg1317Lys,ENST00000356865,;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;	4062	17	24	SUCCESS
MAP1A	4130	.	GRCh37	15	43820605	43820605	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763670577	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	79	0	ENST00000300231.5:c.6934G>T	p.Ala2312Ser	p.A2312S	ENST00000300231		2312	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42031.1	6934	MUTECT|MUSE	.	CCCCAGCTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	rs763670577	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,missense_variant,p.Ala2312Ser,ENST00000399453,;MAP1A,missense_variant,p.Ala2312Ser,ENST00000300231,;MAP1A,missense_variant,p.Ala2550Ser,ENST00000382031,;	7384	79	56	SUCCESS
MESP2	145873	.	GRCh37	15	90320149	90320149	+	synonymous_variant	Silent	SNP	G	G	A	rs767474985	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	40	0	ENST00000341735.3:c.561G>A	p.Gly187=	p.G187=	ENST00000341735	NM_001039958.1	187	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42078.1	561	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGGGCAGGG	SITE|p.G187G|c.561G>A|3	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20937:SF6,hmmpanther:PTHR20937	.	.	ENSP00000342392	.	1/2	.	.	.	.	.	.	.	.	rs767474985,COSM3754568	1/2	common_in_exac	ENST00000341735	Transcript	1	.	ENSG00000188095	29659	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	MESP2_HUMAN	MESP2	HGNC	.	.	UPI00006E232B	SNV	MESP2,synonymous_variant,p.%3D,ENST00000341735,;MESP2,intron_variant,,ENST00000560219,;MESP2,intron_variant,,ENST00000558723,;	561	40	48	SUCCESS
C16orf45	0	.	GRCh37	16	15596135	15596135	+	intron_variant	Intron	SNP	C	C	G	rs757769117	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	64	0	ENST00000300006.4:c.107-13027C>G		p.*36*	ENST00000300006	NM_033201.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10561.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATAGCCAGGA	NONE	.	.	.	.	.	ENSP00000300006	.	.	.	.	.	.	.	.	.	.	rs757769117	.	PASS	ENST00000300006	Transcript	.	.	ENSG00000166780	19213	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CP045_HUMAN	C16orf45	HGNC	B4DE25_HUMAN	.	UPI000006CFC7	SNV	C16orf45,5_prime_UTR_variant,,ENST00000452191,;RP11-1021N1.1,intron_variant,,ENST00000568766,;C16orf45,intron_variant,,ENST00000300006,;C16orf45,intron_variant,,ENST00000566490,;C16orf45,intron_variant,,ENST00000567550,;RP11-1021N1.1,intron_variant,,ENST00000567442,;RP11-1021N1.1,intron_variant,,ENST00000568222,;C16orf45,intron_variant,,ENST00000570249,;C16orf45,intron_variant,,ENST00000561813,;	.	64	77	SUCCESS
WDR90	197335	.	GRCh37	16	716677	716677	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs759204432	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	74	0	ENST00000293879.4:c.4889A>C	p.Gln1630Pro	p.Q1630P	ENST00000293879		1630	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS42092.1	4889	RADIA|MUTECT|MUSE|VARSCANS	.	GACTCAGGGCC	NONE	.	.	hmmpanther:PTHR13720:SF10,hmmpanther:PTHR13720,Gene3D:2.130.10.10	.	.	ENSP00000293879	.	39/41	.	.	.	.	.	.	.	.	rs759204432	39/41	PASS	ENST00000293879	Transcript	.	.	ENSG00000161996	26960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.46)	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,missense_variant,p.Gln229Pro,ENST00000547944,;WDR90,missense_variant,p.Gln37Pro,ENST00000551100,;WDR90,missense_variant,p.Gln181Pro,ENST00000315764,;WDR90,missense_variant,p.Gln1632Pro,ENST00000549091,;WDR90,missense_variant,p.Gln1630Pro,ENST00000293879,;RHOT2,upstream_gene_variant,,ENST00000315082,;RHOT2,upstream_gene_variant,,ENST00000563134,;WDR90,upstream_gene_variant,,ENST00000546896,;RHOT2,upstream_gene_variant,,ENST00000561929,;WDR90,non_coding_transcript_exon_variant,,ENST00000547543,;RHOT2,upstream_gene_variant,,ENST00000569943,;WDR90,downstream_gene_variant,,ENST00000548603,;WDR90,3_prime_UTR_variant,,ENST00000552728,;WDR90,non_coding_transcript_exon_variant,,ENST00000553080,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;RHOT2,upstream_gene_variant,,ENST00000569358,;RHOT2,upstream_gene_variant,,ENST00000568950,;WDR90,downstream_gene_variant,,ENST00000548448,;RHOT2,upstream_gene_variant,,ENST00000566214,;RHOT2,upstream_gene_variant,,ENST00000570092,;WDR90,downstream_gene_variant,,ENST00000546923,;RHOT2,upstream_gene_variant,,ENST00000569706,;RHOT2,upstream_gene_variant,,ENST00000569675,;WDR90,downstream_gene_variant,,ENST00000552683,;RHOT2,upstream_gene_variant,,ENST00000602564,;RHOT2,upstream_gene_variant,,ENST00000570280,;RHOT2,upstream_gene_variant,,ENST00000562333,;RHOT2,upstream_gene_variant,,ENST00000562708,;RHOT2,upstream_gene_variant,,ENST00000567017,;RHOT2,upstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000566965,;RHOT2,upstream_gene_variant,,ENST00000563776,;RHOT2,upstream_gene_variant,,ENST00000561983,;WDR90,downstream_gene_variant,,ENST00000550902,;RHOT2,upstream_gene_variant,,ENST00000568636,;RHOT2,upstream_gene_variant,,ENST00000563637,;WDR90,downstream_gene_variant,,ENST00000546516,;RHOT2,upstream_gene_variant,,ENST00000562598,;RHOT2,upstream_gene_variant,,ENST00000565004,;	4889	74	66	SUCCESS
MSLNL	401827	.	GRCh37	16	820629	820629	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752279684	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	27	0	ENST00000442466.1:c.1544C>T	p.Pro515Leu	p.P515L	ENST00000442466		515	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	.	2597	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15,Pfam_domain:PF06060	.	.	ENSP00000293892	.	14/16	.	.	.	.	.	.	.	.	rs752279684	14/16	PASS	ENST00000293892	Transcript	.	.	ENSG00000162006	14170	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	.	.	MSLNL_HUMAN	MSLNL	HGNC	.	.	UPI0000072242	SNV	MSLNL,missense_variant,p.Pro515Leu,ENST00000442466,;MSLNL,missense_variant,p.Pro565Leu,ENST00000543963,;MSLNL,missense_variant,p.Pro866Leu,ENST00000293892,;MSLN,downstream_gene_variant,,ENST00000382862,;MSLN,downstream_gene_variant,,ENST00000566269,;MSLN,downstream_gene_variant,,ENST00000563651,;MSLN,downstream_gene_variant,,ENST00000561896,;MSLN,downstream_gene_variant,,ENST00000566549,;MSLN,downstream_gene_variant,,ENST00000563941,;MSLN,downstream_gene_variant,,ENST00000545450,;MIR662,downstream_gene_variant,,ENST00000384847,;MSLNL,downstream_gene_variant,,ENST00000537221,;	2597	27	32	SUCCESS
ZCCHC14	23174	.	GRCh37	16	87445309	87445309	+	synonymous_variant	Silent	SNP	C	C	A	rs780330811	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	45	0	ENST00000268616.4:c.2607G>T	p.Thr869=	p.T869=	ENST00000268616	NM_015144.2	869	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10961.1	2607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAACGTGGA	NONE	byFrequency	.	hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195	.	.	ENSP00000268616	.	12/13	.	.	.	.	.	.	.	.	rs780330811	12/13	PASS	ENST00000268616	Transcript	.	.	ENSG00000140948	24134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCH14_HUMAN	ZCCHC14	HGNC	.	.	UPI00000705C4	SNV	ZCCHC14,synonymous_variant,p.%3D,ENST00000268616,;ZCCHC14,synonymous_variant,p.%3D,ENST00000561928,;ZCCHC14,synonymous_variant,p.%3D,ENST00000568020,;ZCCHC14,downstream_gene_variant,,ENST00000565193,;	2825	45	64	SUCCESS
USP22	23326	.	GRCh37	17	20921301	20921301	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763716147	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	54	0	ENST00000261497.4:c.644G>A	p.Ser215Asn	p.S215N	ENST00000261497	NM_015276.1	215	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS42285.1	644	MUTECT|MUSE|VARSCANS	.	TGGGGCTCTGC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000261497	.	5/13	.	.	.	.	.	.	.	.	rs763716147	5/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.196)	.	tolerated(0.12)	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,missense_variant,p.Ser110Asn,ENST00000476111,;USP22,missense_variant,p.Ser61Asn,ENST00000582335,;USP22,missense_variant,p.Ser215Asn,ENST00000261497,;USP22,missense_variant,p.Ser203Asn,ENST00000537526,;USP22,downstream_gene_variant,,ENST00000584538,;USP22,non_coding_transcript_exon_variant,,ENST00000577610,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;	848	54	43	SUCCESS
RNF135	84282	.	GRCh37	17	29325716	29325716	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	12	94	0	ENST00000328381.5:c.806C>T	p.Ser269Phe	p.S269F	ENST00000328381	NM_032322.3	269	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS11262.1	806	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCCTGCA	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00589,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF200,PROSITE_profiles:PS50188	.	.	ENSP00000328340	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000328381	Transcript	.	.	ENSG00000181481	21158	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	RN135_HUMAN	RNF135	HGNC	B3KV69_HUMAN	.	UPI00001AF795	SNV	RNF135,missense_variant,p.Ser269Phe,ENST00000328381,;RNF135,3_prime_UTR_variant,,ENST00000324689,;RNF135,3_prime_UTR_variant,,ENST00000443677,;RNF135,3_prime_UTR_variant,,ENST00000535306,;RNF135,downstream_gene_variant,,ENST00000434242,;RNF135,downstream_gene_variant,,ENST00000580444,;	1679	94	114	SUCCESS
CDC27	996	.	GRCh37	17	45216246	45216246	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	43	0	ENST00000066544.3:c.1563A>G	p.Ile521Met	p.I521M	ENST00000066544	NM_001256.3	521	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS45720.1	1581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAATATTCT	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.120,hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF11,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000434614	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000531206	Transcript	.	.	ENSG00000004897	1728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.28)	.	CDC27_HUMAN	CDC27	HGNC	I0EZ72_HUMAN,I0EZ68_HUMAN	.	UPI0000E59FE6	SNV	CDC27,missense_variant,p.Ile521Met,ENST00000066544,;CDC27,missense_variant,p.Ile520Met,ENST00000527547,;CDC27,missense_variant,p.Ile527Met,ENST00000531206,;CDC27,missense_variant,p.Ile460Met,ENST00000446365,;CDC27,upstream_gene_variant,,ENST00000571643,;CDC27,3_prime_UTR_variant,,ENST00000573502,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000525495,;CDC27,downstream_gene_variant,,ENST00000574304,;	1585	43	49	SUCCESS
MBTD1	54799	.	GRCh37	17	49257976	49257976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	42	0	ENST00000415868.1:c.1848C>A	p.Ser616Arg	p.S616R	ENST00000415868		616	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS11581.2	1848	MUTECT|MUSE	.	CCATTGCTTTC	NONE	.	.	.	.	.	ENSP00000468304	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000586178	Transcript	.	.	ENSG00000011258	19866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious_low_confidence(0)	.	MBTD1_HUMAN	MBTD1	HGNC	.	.	UPI00015DE7E3	SNV	MBTD1,missense_variant,p.Ser616Arg,ENST00000415868,;MBTD1,missense_variant,p.Ser616Arg,ENST00000586178,;	2192	42	45	SUCCESS
GREB1L	80000	.	GRCh37	18	19085909	19085909	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	48	0	ENST00000424526.1:c.4367A>G	p.Gln1456Arg	p.Q1456R	ENST00000424526	NM_001142966.1	1456	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS45836.1	4367	MUTECT|MUSE	.	CTCCCAGGTAC	NONE	.	.	hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720	.	.	ENSP00000464162	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000580732	Transcript	.	.	ENSG00000141449	31042	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.735)	.	deleterious(0)	.	GRB1L_HUMAN	GREB1L	HGNC	.	.	UPI0001642876	SNV	GREB1L,missense_variant,p.Gln1347Arg,ENST00000269218,;GREB1L,missense_variant,p.Gln1456Arg,ENST00000424526,;GREB1L,missense_variant,p.Gln1456Arg,ENST00000580732,;GREB1L,splice_region_variant,,ENST00000400483,;GREB1L,splice_region_variant,,ENST00000578955,;	4748	48	56	SUCCESS
ADNP2	22850	.	GRCh37	18	77895930	77895930	+	synonymous_variant	Silent	SNP	C	C	T	rs1231970009	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	48	0	ENST00000262198.4:c.2634C>T	p.Pro878=	p.P878=	ENST00000262198	NM_014913.3	878	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32853.1	2634	MUTECT|MUSE|VARSCANS	.	TGCCCCTTTTG	NONE	.	.	hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000262198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262198	Transcript	.	.	ENSG00000101544	23803	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADNP2_HUMAN	ADNP2	HGNC	H0YLN6_HUMAN	.	UPI0000071DEA	SNV	ADNP2,synonymous_variant,p.%3D,ENST00000262198,;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;ADNP2,downstream_gene_variant,,ENST00000560752,;	3089	48	44	SUCCESS
CAPZA1	829	.	GRCh37	1	113202330	113202330	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145898509	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	57	0	ENST00000263168.3:c.514C>T	p.Arg172Cys	p.R172C	ENST00000263168	NM_006135.2	172	Cgt/Tgt	0	A:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS30805.1	514	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCGTTGG	NONE	byCluster	.	hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF2,Pfam_domain:PF01267,Superfamily_domains:SSF90096,Prints_domain:PR00191	.	A:0.0001	ENSP00000263168	.	7/10	.	.	.	.	.	.	.	.	rs145898509	7/10	PASS	ENST00000263168	Transcript	.	.	ENSG00000116489	1488	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.964)	.	tolerated(0.08)	.	CAZA1_HUMAN	CAPZA1	HGNC	.	.	UPI00001270FA	SNV	CAPZA1,missense_variant,p.Arg172Cys,ENST00000263168,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000476936,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000498626,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000466066,;	1186	57	61	SUCCESS
TUFT1	7286	.	GRCh37	1	151512785	151512785	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	58	0	ENST00000368849.3:c.-58A>T		p.*20*	ENST00000368849	NM_020127.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1000.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCAGTTGG	NONE	.	.	.	.	.	ENSP00000357842	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000368849	Transcript	.	.	ENSG00000143367	12422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUFT1_HUMAN	TUFT1	HGNC	.	.	UPI0000037BFA	SNV	TUFT1,5_prime_UTR_variant,,ENST00000353024,;TUFT1,5_prime_UTR_variant,,ENST00000368849,;TUFT1,5_prime_UTR_variant,,ENST00000368848,;TUFT1,5_prime_UTR_variant,,ENST00000392712,;TUFT1,5_prime_UTR_variant,,ENST00000538902,;CGN,downstream_gene_variant,,ENST00000271636,;RP11-74C1.4,upstream_gene_variant,,ENST00000434112,;CGN,downstream_gene_variant,,ENST00000467998,;TUFT1,upstream_gene_variant,,ENST00000498606,;CGN,downstream_gene_variant,,ENST00000473377,;	5	58	74	SUCCESS
SUCO	51430	.	GRCh37	1	172548362	172548362	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	16	147	0	ENST00000263688.3:c.1453A>G	p.Thr485Ala	p.T485A	ENST00000263688	NM_014283.3	485	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1303.1	1453	MUTECT|MUSE	.	ATAATACTGGA	NONE	.	.	hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.37)	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,missense_variant,p.Thr448Ala,ENST00000610051,;SUCO,missense_variant,p.Thr637Ala,ENST00000608151,;SUCO,missense_variant,p.Thr636Ala,ENST00000367723,;SUCO,missense_variant,p.Thr485Ala,ENST00000263688,;	1672	147	214	SUCCESS
OR2G6	391211	.	GRCh37	1	248685675	248685675	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	57	0	ENST00000343414.4:c.728C>A	p.Ser243Tyr	p.S243Y	ENST00000343414	NM_001013355.1	243	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS31119.1	728	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGTCTCACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	COSM4030780	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,missense_variant,p.Ser243Tyr,ENST00000343414,;	760	57	81	SUCCESS
CYP4A22	284541	.	GRCh37	1	47606450	47606450	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	85	0	ENST00000371891.3:c.196-2A>C		p.X66_splice	ENST00000371891	NM_001010969.2	66		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30707.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACAGTTCC	NONE	.	.	.	.	.	ENSP00000360958	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	.	.	HIGH	1/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	SNV	CYP4A22,splice_acceptor_variant,,ENST00000371890,;CYP4A22,splice_acceptor_variant,,ENST00000294337,;CYP4A22,splice_acceptor_variant,,ENST00000371891,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,splice_acceptor_variant,,ENST00000485117,;CYP4A22,splice_acceptor_variant,,ENST00000490948,;	.	85	72	SUCCESS
EVI5	7813	.	GRCh37	1	93091357	93091357	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1156547886	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	255	24	261	0	ENST00000370331.1:c.1614C>G	p.His538Gln	p.H538Q	ENST00000370331	NM_005665.4	538	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS30774.1	1614	MUTECT|MUSE|VARSCANS	.	TGCCAGTGTTC	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF197,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000359356	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000370331	Transcript	.	.	ENSG00000067208	3501	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.04)	.	tolerated(0.52)	.	EVI5_HUMAN	EVI5	HGNC	.	.	UPI0000470AFE	SNV	EVI5,missense_variant,p.His549Gln,ENST00000543509,;EVI5,missense_variant,p.His538Gln,ENST00000540033,;EVI5,missense_variant,p.His538Gln,ENST00000370331,;EVI5,non_coding_transcript_exon_variant,,ENST00000492613,;EVI5,non_coding_transcript_exon_variant,,ENST00000491940,;EVI5,non_coding_transcript_exon_variant,,ENST00000468580,;EVI5,non_coding_transcript_exon_variant,,ENST00000492513,;	1624	261	279	SUCCESS
ABCA4	24	.	GRCh37	1	94476366	94476366	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1290742522	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	98	0	ENST00000370225.3:c.5704C>T	p.Leu1902Phe	p.L1902F	ENST00000370225	NM_000350.2	1902	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS747.1	5704	MUTECT|MUSE|VARSCANS	.	GGAGAGGAAGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	40/50	.	.	.	.	.	.	.	.	.	40/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.3)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Leu172Phe,ENST00000536513,;ABCA4,missense_variant,p.Leu1902Phe,ENST00000370225,;ABCA4,missense_variant,p.Leu21Phe,ENST00000535881,;ABCA4,non_coding_transcript_exon_variant,,ENST00000465352,;ABCA4,upstream_gene_variant,,ENST00000484388,;	5791	98	88	SUCCESS
KRTAP27-1	643812	.	GRCh37	21	31709461	31709461	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	120	0	ENST00000382835.2:c.526C>A	p.Leu176Met	p.L176M	ENST00000382835	NM_001077711.1	176	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS33532.1	526	MUTECT|MUSE	.	GACCAGAGGTC	NONE	.	.	hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF5,Pfam_domain:PF05287	.	.	ENSP00000372286	.	1/1	.	.	.	.	.	.	.	.	COSM1029872	1/1	PASS	ENST00000382835	Transcript	.	.	ENSG00000206107	33864	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.54)	.	tolerated(0.1)	1	KR271_HUMAN	KRTAP27-1	HGNC	.	.	UPI00001618F6	SNV	KRTAP27-1,missense_variant,p.Leu176Met,ENST00000382835,;	552	120	104	SUCCESS
TCF20	6942	.	GRCh37	22	42607813	42607813	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	12	77	0	ENST00000359486.3:c.3499A>G	p.Ser1167Gly	p.S1167G	ENST00000359486	NM_005650.2	1167	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS14033.1	3499	RADIA|MUTECT|MUSE|VARSCANS	.	ATCACTAGACA	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Ser1167Gly,ENST00000335626,;TCF20,missense_variant,p.Ser1167Gly,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	3636	77	95	SUCCESS
SBF1	6305	.	GRCh37	22	50904662	50904662	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	49	0	ENST00000380817.3:c.814G>A	p.Ala272Thr	p.A272T	ENST00000380817	NM_002972.2	272	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS14091.2	814	MUTECT|MUSE|VARSCANS	.	CTGAGCCGGCA	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000370196	.	8/41	.	.	.	.	.	.	.	.	.	8/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.87)	.	deleterious(0.03)	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,missense_variant,p.Ala272Thr,ENST00000390679,;SBF1,missense_variant,p.Ala273Thr,ENST00000348911,;SBF1,missense_variant,p.Ala272Thr,ENST00000380817,;SBF1,non_coding_transcript_exon_variant,,ENST00000477234,;SBF1,downstream_gene_variant,,ENST00000399627,;	998	49	51	SUCCESS
NBAS	51594	.	GRCh37	2	15614384	15614384	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	9	93	0	ENST00000281513.5:c.1406G>A	p.Gly469Glu	p.G469E	ENST00000281513	NM_015909.3	469	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS1685.1	1406	MUTECT|MUSE|VARSCANS	.	CTTCTCCTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	15/52	.	.	.	.	.	.	.	.	.	15/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.781)	.	tolerated(0.16)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Gly469Glu,ENST00000441750,;NBAS,missense_variant,p.Gly469Glu,ENST00000281513,;NBAS,downstream_gene_variant,,ENST00000427792,;	1432	93	98	SUCCESS
MYT1L	23040	.	GRCh37	2	1926469	1926469	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs192615880	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	76	0	ENST00000399161.2:c.1072C>T	p.Arg358Cys	p.R358C	ENST00000399161	NM_015025.2	358	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS46222.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACGGATGT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	rs192615880	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	tolerated_low_confidence(0.15)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Arg358Cys,ENST00000399161,;MYT1L,missense_variant,p.Arg358Cys,ENST00000428368,;MYT1L,missense_variant,p.Arg12Cys,ENST00000602387,;	1742	76	72	SUCCESS
PASK	23178	.	GRCh37	2	242075394	242075394	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	11	94	0	ENST00000234040.4:c.1198T>C	p.Leu400=	p.L400=	ENST00000234040	NM_001252119.1	400	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS58759.1	1198	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAATGAGC	NONE	.	.	hmmpanther:PTHR22971:SF2,hmmpanther:PTHR22971,SMART_domains:SM00091	.	.	ENSP00000351475	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000358649	Transcript	.	.	ENSG00000115687	17270	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PASK_HUMAN	PASK	HGNC	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN	.	UPI0000456F4C	SNV	PASK,synonymous_variant,p.%3D,ENST00000405260,;PASK,synonymous_variant,p.%3D,ENST00000358649,;PASK,synonymous_variant,p.%3D,ENST00000403638,;PASK,synonymous_variant,p.%3D,ENST00000544142,;PASK,synonymous_variant,p.%3D,ENST00000539818,;PASK,synonymous_variant,p.%3D,ENST00000234040,;PASK,downstream_gene_variant,,ENST00000415234,;PASK,downstream_gene_variant,,ENST00000452907,;PASK,downstream_gene_variant,,ENST00000433589,;PASK,3_prime_UTR_variant,,ENST00000437780,;PASK,upstream_gene_variant,,ENST00000493544,;PASK,downstream_gene_variant,,ENST00000485940,;	1262	94	95	SUCCESS
SEMA5B	54437	.	GRCh37	3	122645524	122645524	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	13	111	0	ENST00000357599.3:c.851A>G	p.Glu284Gly	p.E284G	ENST00000357599	NM_001256348.1	284	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS58848.1	1013	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCTCTGGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000389588	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	tolerated(0.07)	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,missense_variant,p.Glu284Gly,ENST00000357599,;SEMA5B,missense_variant,p.Glu284Gly,ENST00000195173,;SEMA5B,missense_variant,p.Glu338Gly,ENST00000451055,;SEMA5B,missense_variant,p.Glu284Gly,ENST00000393583,;AC078794.1,downstream_gene_variant,,ENST00000408284,;SEMA5B,missense_variant,p.Glu284Gly,ENST00000475244,;	1024	111	117	SUCCESS
MCM2	4171	.	GRCh37	3	127327292	127327292	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	13	139	0	ENST00000265056.7:c.1169T>A	p.Leu390Gln	p.L390Q	ENST00000265056	NM_004526.3	390	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3043.1	1169	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCTGCCCC	NONE	.	.	Superfamily_domains:SSF50249,SMART_domains:SM00350,Gene3D:2.40.50.140,hmmpanther:PTHR11630:SF44,hmmpanther:PTHR11630	.	.	ENSP00000265056	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000265056	Transcript	.	.	ENSG00000073111	6944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.664)	.	deleterious(0)	.	MCM2_HUMAN	MCM2	HGNC	Q9BWF4_HUMAN,C9JZ21_HUMAN,C9J013_HUMAN	.	UPI00001A3E4E	SNV	MCM2,missense_variant,p.Leu390Gln,ENST00000265056,;MCM2,missense_variant,p.Leu253Gln,ENST00000491422,;MCM2,downstream_gene_variant,,ENST00000472731,;MCM2,downstream_gene_variant,,ENST00000480910,;MCM2,downstream_gene_variant,,ENST00000468659,;MCM2,3_prime_UTR_variant,,ENST00000477668,;MCM2,3_prime_UTR_variant,,ENST00000474964,;	1413	139	135	SUCCESS
RTP1	132112	.	GRCh37	3	186917601	186917601	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752259282	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	117	0	ENST00000312295.4:c.535A>T	p.Ser179Cys	p.S179C	ENST00000312295	NM_153708.2	179	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS3287.2	535	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCAGCCGC	NONE	.	.	hmmpanther:PTHR14402:SF1,hmmpanther:PTHR14402,Pfam_domain:PF13695	.	.	ENSP00000311712	.	2/2	.	.	.	.	.	.	.	.	rs752259282	2/2	PASS	ENST00000312295	Transcript	.	.	ENSG00000175077	28580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.823)	.	deleterious(0.04)	.	RTP1_HUMAN	RTP1	HGNC	.	.	UPI00004E18F3	SNV	RTP1,missense_variant,p.Ser179Cys,ENST00000312295,;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	565	117	99	SUCCESS
COL7A1	1294	.	GRCh37	3	48608074	48608074	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	88	0	ENST00000328333.8:c.7342G>A	p.Val2448Met	p.V2448M	ENST00000328333	NM_000094.3	2448	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS2773.1	7342	RADIA|MUTECT|MUSE|VARSCANS	.	CACCACTGACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	95/118	.	.	.	.	.	.	.	.	.	95/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.687)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Val2448Met,ENST00000328333,;COL7A1,missense_variant,p.Val113Met,ENST00000422991,;COL7A1,missense_variant,p.Val2416Met,ENST00000454817,;COL7A1,splice_region_variant,,ENST00000467985,;COL7A1,splice_region_variant,,ENST00000487017,;COL7A1,downstream_gene_variant,,ENST00000462475,;COL7A1,upstream_gene_variant,,ENST00000474432,;COL7A1,upstream_gene_variant,,ENST00000459756,;	7450	88	86	SUCCESS
FRMD4B	23150	.	GRCh37	3	69225699	69225699	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758394679	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	9	117	0	ENST00000398540.3:c.2960A>G	p.Tyr987Cys	p.Y987C	ENST00000398540	NM_015123.1	987	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46863.1	2960	MUTECT|MUSE	.	GATTATAGACA	NONE	.	.	hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281	.	.	ENSP00000381549	.	22/23	.	.	.	.	.	.	.	.	rs758394679	22/23	PASS	ENST00000398540	Transcript	.	.	ENSG00000114541	24886	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	tolerated_low_confidence(0.09)	.	FRM4B_HUMAN	FRMD4B	HGNC	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN	.	UPI00001C1DF1	SNV	FRMD4B,missense_variant,p.Tyr987Cys,ENST00000398540,;FRMD4B,missense_variant,p.Tyr639Cys,ENST00000478263,;FRMD4B,missense_variant,p.Tyr933Cys,ENST00000542259,;	3044	117	133	SUCCESS
FAM86DP	692099	.	GRCh37	3	75471288	75471288	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	121	0	ENST00000459803.1:n.1854G>A		p.*618*	ENST00000459803				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACACATA	NONE	.	.	.	.	.	.	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000459803	Transcript	.	.	ENSG00000244026	32659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FAM86DP	HGNC	.	.	.	SNV	FAM86DP,non_coding_transcript_exon_variant,,ENST00000484945,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000459803,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000497543,;FAM86DP,downstream_gene_variant,,ENST00000489609,;FAM86DP,downstream_gene_variant,,ENST00000491583,;FAM86DP,downstream_gene_variant,,ENST00000478666,;ALG1L6P,non_coding_transcript_exon_variant,,ENST00000515248,;FAM86DP,downstream_gene_variant,,ENST00000477247,;	1854	121	108	SUCCESS
ZFYVE28	57732	.	GRCh37	4	2321941	2321941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	60	0	ENST00000290974.2:c.759G>T	p.Met253Ile	p.M253I	ENST00000290974	NM_020972.2	253	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33942.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGACATGTC	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF140	.	.	ENSP00000290974	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000290974	Transcript	.	.	ENSG00000159733	29334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	tolerated(0.13)	.	LST2_HUMAN	ZFYVE28	HGNC	Q49AA1_HUMAN,D6RID3_HUMAN	.	UPI00001C1E08	SNV	ZFYVE28,missense_variant,p.Met223Ile,ENST00000511071,;ZFYVE28,missense_variant,p.Met183Ile,ENST00000515312,;ZFYVE28,missense_variant,p.Met253Ile,ENST00000290974,;RN7SL589P,upstream_gene_variant,,ENST00000481268,;RP11-478C1.7,downstream_gene_variant,,ENST00000510632,;RP11-478C1.8,upstream_gene_variant,,ENST00000506116,;	1099	60	77	SUCCESS
PRKG2	5593	.	GRCh37	4	82031670	82031670	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	74	0	ENST00000264399.1:c.1872C>T	p.Asn624=	p.N624=	ENST00000264399	NM_006259.1	624	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS3589.1	1872	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGTTGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF56112	.	.	ENSP00000378945	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000395578	Transcript	.	.	ENSG00000138669	9416	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KGP2_HUMAN	PRKG2	HGNC	B7ZA25_HUMAN	.	UPI000012DDC6	SNV	PRKG2,synonymous_variant,p.%3D,ENST00000418486,;PRKG2,synonymous_variant,p.%3D,ENST00000395578,;PRKG2,synonymous_variant,p.%3D,ENST00000264399,;PRKG2,synonymous_variant,p.%3D,ENST00000545647,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509474,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509169,;	1989	74	98	SUCCESS
CCSER1	401145	.	GRCh37	4	91549212	91549212	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	27	260	0	ENST00000509176.1:c.1761A>T	p.Gln587His	p.Q587H	ENST00000509176	NM_001145065.1	587	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS47099.1	1761	RADIA|MUTECT|MUSE|VARSCANS	.	GATCAAGAAGC	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.66)	.	tolerated(0.11)	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Gln587His,ENST00000509176,;CCSER1,missense_variant,p.Gln587His,ENST00000333691,;CCSER1,missense_variant,p.Gln587His,ENST00000432775,;CCSER1,missense_variant,p.Gln13His,ENST00000513522,;CCSER1,missense_variant,p.Gln587His,ENST00000505073,;CCSER1,missense_variant,p.Gln14His,ENST00000502478,;	2049	260	228	SUCCESS
GRID2	2895	.	GRCh37	4	94693257	94693257	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	69	0	ENST00000282020.4:c.2632C>T	p.His878Tyr	p.H878Y	ENST00000282020	NM_001510.2	878	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS3637.1	2632	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCATAGA	NONE	.	.	hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966	.	.	ENSP00000282020	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000282020	Transcript	1	.	ENSG00000152208	4576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.968)	.	deleterious(0.02)	.	GRID2_HUMAN	GRID2	HGNC	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN	.	UPI00001AEA78	SNV	GRID2,missense_variant,p.His878Tyr,ENST00000282020,;GRID2,missense_variant,p.His783Tyr,ENST00000510992,;	2890	69	66	SUCCESS
PCDHGC4	56098	.	GRCh37	5	140867041	140867041	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	13	98	0	ENST00000306593.1:c.2302del	p.His768ThrfsTer19	p.H768Tfs*19	ENST00000306593	NM_018928.2	767	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS4262.1	2301	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAGGCCACTC	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF80	.	.	ENSP00000306918	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000306593	Transcript	.	.	ENSG00000242419	8717	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDGL_HUMAN	PCDHGC4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000071C3B	deletion	PCDHGC4,frameshift_variant,p.His768ThrfsTer19,ENST00000306593,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGC3,intron_variant,,ENST00000308177,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGC5,upstream_gene_variant,,ENST00000252087,;	2301	98	128	SUCCESS
SYNPO	11346	.	GRCh37	5	150029676	150029676	+	synonymous_variant	Silent	SNP	G	G	A	rs1340005300	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	15	96	0	ENST00000394243.1:c.2571G>A	p.Leu857=	p.L857=	ENST00000394243	NM_001166208.1	857	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54937.1	2571	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGCCTCG	NONE	.	.	hmmpanther:PTHR24217:SF11,hmmpanther:PTHR24217,Low_complexity_(Seg):seg	.	.	ENSP00000377789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394243	Transcript	.	.	ENSG00000171992	30672	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYNPO_HUMAN	SYNPO	HGNC	Q71HJ6_HUMAN	.	UPI000013F943	SNV	SYNPO,synonymous_variant,p.%3D,ENST00000519664,;SYNPO,synonymous_variant,p.%3D,ENST00000394243,;SYNPO,synonymous_variant,p.%3D,ENST00000522122,;SYNPO,synonymous_variant,p.%3D,ENST00000307662,;SYNPO,downstream_gene_variant,,ENST00000518872,;	2945	96	98	SUCCESS
MAP1B	4131	.	GRCh37	5	71492333	71492333	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	51	0	ENST00000296755.7:c.3151A>T	p.Lys1051Ter	p.K1051*	ENST00000296755	NM_005909.3	1051	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4012.1	3151	RADIA|MUTECT|MUSE|VARSCANS	.	TCGACAAGGCT	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,stop_gained,p.Lys1051Ter,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	3449	51	46	SUCCESS
MAP1B	4131	.	GRCh37	5	71495123	71495123	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	58	0	ENST00000296755.7:c.5941A>T	p.Arg1981Ter	p.R1981*	ENST00000296755	NM_005909.3	1981	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS4012.1	5941	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTAGAAGG	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,stop_gained,p.Arg1981Ter,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	6239	58	50	SUCCESS
CMYA5	202333	.	GRCh37	5	79034864	79034864	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1272190463	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	6	98	0	ENST00000446378.2:c.10276T>A	p.Ser3426Thr	p.S3426T	ENST00000446378	NM_153610.3	3426	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS47238.1	10276	MUTECT|MUSE	.	CAGAATCCCTG	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.621)	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,missense_variant,p.Ser3426Thr,ENST00000446378,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	10307	98	96	SUCCESS
GPR98	0	.	GRCh37	5	90052872	90052872	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	17	116	0	ENST00000405460.2:c.11834C>G	p.Ala3945Gly	p.A3945G	ENST00000405460	NM_032119.3	3945	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS47246.1	11834	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCTGGAA	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	57/90	.	.	.	.	.	.	.	.	.	57/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ala3945Gly,ENST00000405460,;GPR98,missense_variant,p.Ala1511Gly,ENST00000509621,;	11930	116	135	SUCCESS
SLC17A4	10050	.	GRCh37	6	25776866	25776866	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs560726056	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	82	0	ENST00000377905.4:c.1031G>T	p.Cys344Phe	p.C344F	ENST00000377905	NM_005495.2	344	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS4564.1	1031	RADIA|MUSE|VARSCANS	.	TATCTGCATTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF25,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000367137	.	9/12	.	.	.	.	.	.	.	.	rs560726056	9/12	PASS	ENST00000377905	Transcript	.	.	ENSG00000146039	10932	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.52)	.	S17A4_HUMAN	SLC17A4	HGNC	.	.	UPI0000073585	SNV	SLC17A4,missense_variant,p.Cys114Phe,ENST00000397076,;SLC17A4,missense_variant,p.Cys344Phe,ENST00000377905,;SLC17A4,missense_variant,p.Cys114Phe,ENST00000439485,;	1150	82	70	SUCCESS
PKHD1	5314	.	GRCh37	6	51890835	51890835	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761654750	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	86	0	ENST00000371117.3:c.3773C>G	p.Pro1258Arg	p.P1258R	ENST00000371117	NM_138694.3	1258	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS4935.1	3773	RADIA|MUTECT|MUSE|VARSCANS	.	CATCGGGTATC	NONE	byFrequency	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429	.	.	ENSP00000360158	.	32/67	.	.	.	.	.	.	.	.	rs761654750	32/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	deleterious(0.03)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Pro1258Arg,ENST00000340994,;PKHD1,missense_variant,p.Pro1258Arg,ENST00000371117,;	4049	86	82	SUCCESS
EYS	346007	.	GRCh37	6	65301270	65301270	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	81	0	ENST00000370616.2:c.4490C>A	p.Ala1497Asp	p.A1497D	ENST00000370616		1497	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS47445.1	4490	MUTECT|MUSE	.	CCTTAGCAGGA	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Ala1497Asp,ENST00000370616,;EYS,missense_variant,p.Ala1497Asp,ENST00000370621,;EYS,missense_variant,p.Ala1497Asp,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000330816,;	5028	81	105	SUCCESS
ZAN	7455	.	GRCh37	7	100344290	100344290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	60	0	ENST00000546292.1:c.896C>A	p.Pro299His	p.P299H	ENST00000546292	NM_173059.1	299	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	.	896	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCTGGTG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	7/46	.	.	.	.	.	.	.	.	.	7/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.669)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Pro299His,ENST00000546292,;ZAN,missense_variant,p.Pro299His,ENST00000542585,;ZAN,missense_variant,p.Pro299His,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Pro299His,ENST00000421100,;ZAN,missense_variant,p.Pro299His,ENST00000349350,;ZAN,missense_variant,p.Pro299His,ENST00000427578,;ZAN,missense_variant,p.Pro299His,ENST00000348028,;ZAN,missense_variant,p.Pro299His,ENST00000449052,;ZAN,missense_variant,p.Pro299His,ENST00000443370,;	1044	60	73	SUCCESS
SCIN	85477	.	GRCh37	7	12684320	12684320	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	68	0	ENST00000297029.5:c.1871G>T	p.Gly624Val	p.G624V	ENST00000297029	NM_001112706.2	624	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS47545.1	1871	RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGAAGAT	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753	.	.	ENSP00000297029	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000297029	Transcript	.	.	ENSG00000006747	21695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ADSV_HUMAN	SCIN	HGNC	Q8NBV9_HUMAN,Q75MG0_HUMAN	.	UPI000013C4DF	SNV	SCIN,missense_variant,p.Gly377Val,ENST00000445618,;SCIN,missense_variant,p.Gly377Val,ENST00000519209,;SCIN,missense_variant,p.Gly624Val,ENST00000297029,;SCIN,stop_gained,p.Glu565Ter,ENST00000341757,;	1972	68	46	SUCCESS
CCDC136	64753	.	GRCh37	7	128450355	128450355	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	16	134	0	ENST00000297788.4:c.1963C>T	p.Gln655Ter	p.Q655*	ENST00000297788	NM_022742.4	655	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47704.1	1963	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCAGGAA	NONE	.	.	hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,stop_gained,p.Gln655Ter,ENST00000297788,;CCDC136,stop_gained,p.Gln532Ter,ENST00000494552,;CCDC136,stop_gained,p.Gln246Ter,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,upstream_gene_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000460941,;CCDC136,downstream_gene_variant,,ENST00000485832,;	2330	134	130	SUCCESS
LRGUK	136332	.	GRCh37	7	133906659	133906659	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	69	0	ENST00000285928.2:c.1972A>G	p.Lys658Glu	p.K658E	ENST00000285928	NM_144648.1	658	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS5830.1	1972	MUTECT|MUSE	.	CCAAAAAAACA	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35	.	.	ENSP00000285928	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000285928	Transcript	.	.	ENSG00000155530	21964	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.051)	.	tolerated(0.09)	.	LRGUK_HUMAN	LRGUK	HGNC	.	.	UPI0000072C76	SNV	LRGUK,missense_variant,p.Lys658Glu,ENST00000285928,;	2041	69	64	SUCCESS
ABCB8	11194	.	GRCh37	7	150739056	150739056	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	31	0	ENST00000297504.6:c.1677C>T	p.Val559=	p.V559=	ENST00000297504	NM_001282291.1	559	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5913.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTCCTGTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR24221:SF167,hmmpanther:PTHR24221,PROSITE_profiles:PS50893	.	.	ENSP00000351717	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000358849	Transcript	.	.	ENSG00000197150	49	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCB8_HUMAN	ABCB8	HGNC	B3KSN3_HUMAN,B3KND2_HUMAN	.	UPI000013E41B	SNV	ABCB8,synonymous_variant,p.%3D,ENST00000297504,;ABCB8,synonymous_variant,p.%3D,ENST00000542328,;ABCB8,synonymous_variant,p.%3D,ENST00000498578,;ABCB8,synonymous_variant,p.%3D,ENST00000358849,;ABCB8,3_prime_UTR_variant,,ENST00000356058,;ABCB8,downstream_gene_variant,,ENST00000491920,;ABCB8,downstream_gene_variant,,ENST00000477092,;ABCB8,downstream_gene_variant,,ENST00000477719,;ABCB8,3_prime_UTR_variant,,ENST00000470645,;ABCB8,3_prime_UTR_variant,,ENST00000482309,;ABCB8,3_prime_UTR_variant,,ENST00000466514,;ABCB8,non_coding_transcript_exon_variant,,ENST00000482899,;	1719	31	30	SUCCESS
HECW1	23072	.	GRCh37	7	43485103	43485103	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373326288	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	19	162	0	ENST00000395891.2:c.2332G>T	p.Gly778Trp	p.G778W	ENST00000395891	NM_015052.3	778	Ggg/Tgg	0	A:0	.	.	.	.	T	G/W	protein_coding	YES	CCDS5469.2	2332	RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCGGGCAC	NONE	byCluster	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	A:0.0001	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	rs373326288,COSM3381936,COSM3381935	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.896)	.	deleterious_low_confidence(0)	0,1,1	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Gly778Trp,ENST00000453890,;HECW1,missense_variant,p.Gly778Trp,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2937	162	179	SUCCESS
FOXK1	221937	.	GRCh37	7	4722290	4722290	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	33	0	ENST00000328914.4:c.351C>T	p.Leu117=	p.L117=	ENST00000328914	NM_001037165.1	117	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34591.1	351	RADIA|MUTECT	.	TTCCTCATGCG	NONE	.	.	hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000328720	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000328914	Transcript	.	.	ENSG00000164916	23480	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXK1_HUMAN	FOXK1	HGNC	B3KV39_HUMAN	.	UPI00004158EB	SNV	FOXK1,synonymous_variant,p.%3D,ENST00000328914,;FOXK1,intron_variant,,ENST00000446823,;	351	33	33	SUCCESS
SLC45A4	57210	.	GRCh37	8	142222517	142222517	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	80	0	ENST00000024061.3:c.1927G>T	p.Val643Phe	p.V643F	ENST00000024061	NM_001080431.1	643	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS34948.1	1927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACGCGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000024061	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,missense_variant,p.Val643Phe,ENST00000024061,;SLC45A4,missense_variant,p.Val636Phe,ENST00000433583,;SLC45A4,missense_variant,p.Val694Phe,ENST00000517878,;SLC45A4,missense_variant,p.Val643Phe,ENST00000519067,;	2235	80	66	SUCCESS
CNGB3	54714	.	GRCh37	8	87738767	87738767	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	58	0	ENST00000320005.5:c.330T>A	p.Gly110=	p.G110=	ENST00000320005	NM_019098.4	110	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6244.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGACCTTC	NONE	.	.	hmmpanther:PTHR10217:SF385,hmmpanther:PTHR10217	.	.	ENSP00000316605	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,synonymous_variant,p.%3D,ENST00000320005,;RP11-386D6.1,intron_variant,,ENST00000519041,;CNGB3,non_coding_transcript_exon_variant,,ENST00000519777,;	378	59	71	SUCCESS
SLC26A7	115111	.	GRCh37	8	92346665	92346665	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1191129523	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	40	0	ENST00000276609.3:c.785A>G	p.Asp262Gly	p.D262G	ENST00000276609	NM_052832.2	262	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6255.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGATTTAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000309504	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,missense_variant,p.Asp130Gly,ENST00000520818,;SLC26A7,missense_variant,p.Asp262Gly,ENST00000276609,;SLC26A7,missense_variant,p.Asp262Gly,ENST00000309536,;SLC26A7,missense_variant,p.Asp262Gly,ENST00000523719,;SLC26A7,missense_variant,p.Asp262Gly,ENST00000522181,;	1005	40	46	SUCCESS
NIPAL2	79815	.	GRCh37	8	99208234	99208234	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	553	65	456	0	ENST00000341166.3:c.881-1G>C		p.X294_splice	ENST00000341166	NM_024759.1	294		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6278.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATACCTGTAA	NONE	.	.	.	.	.	ENSP00000339256	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341166	Transcript	.	.	ENSG00000104361	25854	.	.	HIGH	8/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPAL2_HUMAN	NIPAL2	HGNC	.	.	UPI000007089C	SNV	NIPAL2,splice_acceptor_variant,,ENST00000430223,;NIPAL2,splice_acceptor_variant,,ENST00000341166,;RNU6-914P,upstream_gene_variant,,ENST00000516749,;NIPAL2,splice_acceptor_variant,,ENST00000520545,;NIPAL2,splice_acceptor_variant,,ENST00000521820,;	.	456	618	SUCCESS
SVEP1	79987	.	GRCh37	9	113261408	113261408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	7	101	0	ENST00000374469.1:c.1525G>T	p.Gly509Trp	p.G509W	ENST00000374469		509	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS48004.1	1594	MUTECT|MUSE	.	GAACCCTTGGC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	7/48	.	.	.	.	.	.	.	.	.	7/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Gly532Trp,ENST00000401783,;SVEP1,missense_variant,p.Gly509Trp,ENST00000374469,;SVEP1,missense_variant,p.Gly532Trp,ENST00000302728,;SVEP1,missense_variant,p.Gly509Trp,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	1931	101	112	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136310858	136310858	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	27	131	0	ENST00000371929.3:c.2649A>C	p.Pro883=	p.P883=	ENST00000371929	NM_139025.4	883	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6970.1	2649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCATGGGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161	.	.	ENSP00000360997	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,synonymous_variant,p.%3D,ENST00000355699,;ADAMTS13,synonymous_variant,p.%3D,ENST00000356589,;ADAMTS13,synonymous_variant,p.%3D,ENST00000371929,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,3_prime_UTR_variant,,ENST00000536611,;ADAMTS13,non_coding_transcript_exon_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000495234,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;	3093	132	151	SUCCESS
CACNA1B	774	.	GRCh37	9	140970351	140970351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	88	0	ENST00000371372.1:c.4938G>A	p.Met1646Ile	p.M1646I	ENST00000371372	NM_001243812.1	1646	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS59522.1	4938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGCTGCT	NONE	.	.	Prints_domain:PR00167,Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	35/47	.	.	.	.	.	.	.	.	.	35/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious(0.01)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Met11Ile,ENST00000413253,;CACNA1B,missense_variant,p.Met1647Ile,ENST00000371355,;CACNA1B,missense_variant,p.Met1645Ile,ENST00000371357,;CACNA1B,missense_variant,p.Met840Ile,ENST00000277549,;CACNA1B,missense_variant,p.Met1646Ile,ENST00000277551,;CACNA1B,missense_variant,p.Met10Ile,ENST00000371365,;CACNA1B,missense_variant,p.Met1644Ile,ENST00000371363,;CACNA1B,missense_variant,p.Met1646Ile,ENST00000371372,;	5083	88	62	SUCCESS
TLE4	7091	.	GRCh37	9	82336746	82336746	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	69	0	ENST00000376552.2:c.1929C>T	p.Val643=	p.V643=	ENST00000376552	NM_007005.3	643	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS43837.1	1929	RADIA|MUSE|VARSCANS	.	ACGGTCAGGTC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000365735	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,synonymous_variant,p.%3D,ENST00000376534,;TLE4,synonymous_variant,p.%3D,ENST00000376552,;TLE4,synonymous_variant,p.%3D,ENST00000376537,;TLE4,synonymous_variant,p.%3D,ENST00000376544,;TLE4,synonymous_variant,p.%3D,ENST00000376520,;TLE4,synonymous_variant,p.%3D,ENST00000265284,;TLE4,downstream_gene_variant,,ENST00000496114,;TLE4,intron_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;RP11-79D8.2,upstream_gene_variant,,ENST00000440700,;	2947	69	47	SUCCESS
KCNE1L	0	.	GRCh37	X	108868238	108868238	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	52	0	ENST00000372101.2:c.12C>T	p.Ser4=	p.S4=	ENST00000372101	NM_012282.2	4	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14547.1	12	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCGCTGCA	NONE	.	.	hmmpanther:PTHR15282:SF7,hmmpanther:PTHR15282,Low_complexity_(Seg):seg	.	.	ENSP00000361173	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372101	Transcript	.	.	ENSG00000176076	6241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCE1L_HUMAN	KCNE1L	HGNC	Q5JWV7_HUMAN,Q2N1H9_HUMAN	.	UPI000012DC68	SNV	KCNE1L,synonymous_variant,p.%3D,ENST00000372101,;ACSL4,intron_variant,,ENST00000439581,;ACSL4,downstream_gene_variant,,ENST00000505075,;	156	52	62	SUCCESS
SFXN3	81855	.	GRCh37	10	102798950	102798950	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	41	106	0	ENST00000224807.5:c.852C>T	p.Pro284=	p.P284=	ENST00000224807	NM_030971.3	284	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7508.2	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11153:SF20,hmmpanther:PTHR11153,Pfam_domain:PF03820,TIGRFAM_domain:TIGR00798	.	.	ENSP00000224807	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000224807	Transcript	.	.	ENSG00000107819	16087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFXN3_HUMAN	SFXN3	HGNC	.	.	UPI000006EE3D	SNV	SFXN3,synonymous_variant,p.%3D,ENST00000393459,;SFXN3,synonymous_variant,p.%3D,ENST00000224807,;SFXN3,non_coding_transcript_exon_variant,,ENST00000470252,;SFXN3,non_coding_transcript_exon_variant,,ENST00000466982,;SFXN3,downstream_gene_variant,,ENST00000487721,;SFXN3,downstream_gene_variant,,ENST00000465383,;SFXN3,downstream_gene_variant,,ENST00000489434,;	1308	107	129	SUCCESS
CYP2E1	1571	.	GRCh37	10	135340964	135340964	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1336298850	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	55	0	ENST00000252945.3:c.65T>C	p.Met22Thr	p.M22T	ENST00000252945	NM_000773.3	22	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS7686.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATGTGGA	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Prints_domain:PR01687	.	.	ENSP00000440689	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000463117	Transcript	.	.	ENSG00000130649	2631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.41)	.	CP2E1_HUMAN	CYP2E1	HGNC	Q4LBD0_HUMAN,F5H694_HUMAN	.	UPI0000128291	SNV	CYP2E1,missense_variant,p.Met22Thr,ENST00000541261,;CYP2E1,missense_variant,p.Met22Thr,ENST00000463117,;CYP2E1,missense_variant,p.Met22Thr,ENST00000252945,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,upstream_gene_variant,,ENST00000418356,;AL161645.2,downstream_gene_variant,,ENST00000599428,;CYP2E1,upstream_gene_variant,,ENST00000421586,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000477500,;CYP2E1,upstream_gene_variant,,ENST00000480558,;RP11-108K14.4,downstream_gene_variant,,ENST00000488261,;CYP2E1,upstream_gene_variant,,ENST00000541080,;CYP2E1,upstream_gene_variant,,ENST00000368520,;RP11-108K14.4,downstream_gene_variant,,ENST00000356567,;	337	55	72	SUCCESS
MYO3A	53904	.	GRCh37	10	26446318	26446318	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746307707	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	16	111	0	ENST00000265944.5:c.2873G>C	p.Arg958Pro	p.R958P	ENST00000265944	NM_017433.4	958	cGt/cCt	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS7148.1	2873	RADIA|MUTECT|MUSE	.	TGAGCGTCAGG	BUFFER|p.S956N|c.2867G>A|5	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	26/35	.	.	.	.	.	.	.	.	rs746307707,COSM214298	26/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.992)	.	deleterious(0)	0,1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Arg958Pro,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	3039	111	128	SUCCESS
KIAA1462	0	.	GRCh37	10	30318601	30318601	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	76	0	ENST00000375377.1:c.476G>A	p.Arg159Lys	p.R159K	ENST00000375377	NM_020848.2	159	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS41500.1	476	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCTTCCT	NONE	.	.	Pfam_domain:PF15351	.	.	ENSP00000364526	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000375377	Transcript	.	.	ENSG00000165757	29283	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	JCAD_HUMAN	KIAA1462	HGNC	.	.	UPI00001D8117	SNV	KIAA1462,missense_variant,p.Arg159Lys,ENST00000375377,;	578	77	96	SUCCESS
ZC3H12C	85463	.	GRCh37	11	110035069	110035069	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767673614	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	49	0	ENST00000278590.3:c.1259A>G	p.Lys420Arg	p.K420R	ENST00000278590	NM_033390.1	420	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44727.1	1259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAAGAAGT	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24,PROSITE_profiles:PS50103	.	.	ENSP00000278590	.	6/6	.	.	.	.	.	.	.	.	rs767673614	6/6	PASS	ENST00000278590	Transcript	.	.	ENSG00000149289	29362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.376)	.	deleterious(0)	.	ZC12C_HUMAN	ZC3H12C	HGNC	E9PP00_HUMAN	.	UPI0000DD80B8	SNV	ZC3H12C,missense_variant,p.Lys389Arg,ENST00000453089,;ZC3H12C,missense_variant,p.Lys420Arg,ENST00000278590,;ZC3H12C,missense_variant,p.Lys421Arg,ENST00000528673,;	1310	49	52	SUCCESS
GALNT18	374378	.	GRCh37	11	11394087	11394087	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	51	0	ENST00000227756.4:c.1067G>T	p.Gly356Val	p.G356V	ENST00000227756	NM_198516.2	356	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7807.1	1067	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGCCCCCG	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF37	.	.	ENSP00000227756	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000227756	Transcript	.	.	ENSG00000110328	30488	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.748)	.	deleterious(0)	.	GLT18_HUMAN	GALNT18	HGNC	Q58A54_HUMAN	.	UPI000004B63C	SNV	GALNT18,missense_variant,p.Gly356Val,ENST00000227756,;	1479	51	72	SUCCESS
IGSF9B	22997	.	GRCh37	11	133790637	133790637	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755042408	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	75	0	ENST00000321016.8:c.2983G>A	p.Val995Ile	p.V995I	ENST00000321016		995	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS61010.1	2983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACGGAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489	.	.	ENSP00000436552	.	18/20	.	.	.	.	.	.	.	.	rs755042408	18/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.593)	.	deleterious_low_confidence(0.01)	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Val995Ile,ENST00000533871,;IGSF9B,missense_variant,p.Val995Ile,ENST00000321016,;IGSF9B,downstream_gene_variant,,ENST00000527648,;	3214	75	56	SUCCESS
TRPM5	29850	.	GRCh37	11	2439523	2439523	+	synonymous_variant	Silent	SNP	G	G	A	rs772192123	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	98	0	ENST00000155858.6:c.780C>T	p.Ala260=	p.A260=	ENST00000155858	NM_014555.3	260	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31340.1	780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGGCGAT	NONE	byFrequency	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5	.	.	ENSP00000155858	.	6/24	.	.	.	.	.	.	.	.	rs772192123	6/24	PASS	ENST00000155858	Transcript	.	.	ENSG00000070985	14323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM5_HUMAN	TRPM5	HGNC	.	.	UPI000003B069	SNV	TRPM5,synonymous_variant,p.%3D,ENST00000533060,;TRPM5,synonymous_variant,p.%3D,ENST00000528453,;TRPM5,synonymous_variant,p.%3D,ENST00000533881,;TRPM5,synonymous_variant,p.%3D,ENST00000452833,;TRPM5,synonymous_variant,p.%3D,ENST00000155858,;	789	98	104	SUCCESS
OR5W2	390148	.	GRCh37	11	55681443	55681443	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs755803408	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	31	116	0	ENST00000344514.1:c.616A>G	p.Ile206Val	p.I206V	ENST00000344514	NM_001001960.1	206	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31513.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATAAAAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF58,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342448	.	1/1	.	.	.	.	.	.	.	.	rs755803408	1/1	PASS	ENST00000344514	Transcript	.	.	ENSG00000187612	15299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.21)	.	OR5W2_HUMAN	OR5W2	HGNC	.	.	UPI0000061E8D	SNV	OR5W2,missense_variant,p.Ile206Val,ENST00000344514,;	616	116	120	SUCCESS
OR5I1	10798	.	GRCh37	11	55703115	55703115	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	92	0	ENST00000301532.3:c.762A>T	p.Gln254His	p.Q254H	ENST00000301532	NM_006637.1	254	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7949.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTTGGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000301532	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301532	Transcript	.	.	ENSG00000167825	8347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.87)	.	OR5I1_HUMAN	OR5I1	HGNC	.	.	UPI00000405D5	SNV	OR5I1,missense_variant,p.Gln254His,ENST00000301532,;	762	92	97	SUCCESS
TCN1	6947	.	GRCh37	11	59623355	59623355	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs146250932	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	68	0	ENST00000257264.3:c.924C>A	p.Cys308Ter	p.C308*	ENST00000257264	NM_001062.3	308	tgC/tgA	0	A:0	.	.	.	.	T	C/*	protein_coding	YES	CCDS7978.1	924	RADIA|MUTECT|MUSE	.	GAGACGCAAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF01122	.	A:0.0007	ENSP00000257264	.	6/9	.	.	.	.	.	.	.	.	rs146250932,COSM1298252	6/9	PASS	ENST00000257264	Transcript	.	.	ENSG00000134827	11652	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	TCO1_HUMAN	TCN1	HGNC	.	.	UPI000013CF55	SNV	TCN1,stop_gained,p.Cys308Ter,ENST00000257264,;TCN1,intron_variant,,ENST00000532419,;TCN1,downstream_gene_variant,,ENST00000533734,;TCN1,downstream_gene_variant,,ENST00000534531,;TCN1,upstream_gene_variant,,ENST00000529251,;	1029	68	82	SUCCESS
OR2AG2	338755	.	GRCh37	11	6789852	6789852	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141878691	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	76	107	0	ENST00000338569.2:c.337C>T	p.Leu113Phe	p.L113F	ENST00000338569	NM_001004490.1	113	Ctc/Ttc	0	A:0.0002	.	.	.	.	A	L/F	protein_coding	YES	CCDS31413.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAGGTCCT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF107,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0001	ENSP00000342697	.	1/1	.	.	.	.	.	.	.	.	rs141878691	1/1	PASS	ENST00000338569	Transcript	.	.	ENSG00000188124	15143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	tolerated(0.56)	.	O2AG2_HUMAN	OR2AG2	HGNC	.	.	UPI0000041C10	SNV	OR2AG2,missense_variant,p.Leu113Phe,ENST00000338569,;	435	108	167	SUCCESS
TRIM77	390231	.	GRCh37	11	89450720	89450720	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	98	0	ENST00000398290.3:c.1033G>T	p.Val345Leu	p.V345L	ENST00000398290	NM_001146162.1	345	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS60929.1	1033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGTGGAT	NONE	.	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,Pfam_domain:PF00622,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF315,PROSITE_profiles:PS50188	.	.	ENSP00000474003	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000398290	Transcript	.	.	ENSG00000214414	34228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	tolerated(0.16)	.	TRI77_HUMAN	TRIM77	HGNC	.	.	UPI00001607F2	SNV	TRIM77,missense_variant,p.Val151Leu,ENST00000534392,;TRIM77,missense_variant,p.Val345Leu,ENST00000398290,;TRIM77,downstream_gene_variant,,ENST00000603145,;	1033	98	70	SUCCESS
PAH	5053	.	GRCh37	12	103249042	103249042	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	44	62	0	ENST00000553106.1:c.578C>T	p.Thr193Ile	p.T193I	ENST00000553106	NM_000277.1	193	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS9092.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGTCTTG	NONE	.	.	Superfamily_domains:SSF56534,PIRSF_domain:PIRSF000336,Pfam_domain:PF00351,TIGRFAM_domain:TIGR01268,Gene3D:1.10.800.10,hmmpanther:PTHR11473,PROSITE_profiles:PS51410	.	.	ENSP00000448059	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000553106	Transcript	.	.	ENSG00000171759	8582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.384)	.	deleterious(0.01)	.	PH4H_HUMAN	PAH	HGNC	F8W1D4_HUMAN,F8W0A0_HUMAN	.	UPI00001318A0	SNV	PAH,missense_variant,p.Thr193Ile,ENST00000553106,;PAH,missense_variant,p.Thr188Ile,ENST00000307000,;PAH,downstream_gene_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000549111,;PAH,upstream_gene_variant,,ENST00000549247,;PAH,upstream_gene_variant,,ENST00000551114,;	1051	62	84	SUCCESS
MMP17	4326	.	GRCh37	12	132325314	132325314	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368162179	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	25	0	ENST00000360564.1:c.619G>A	p.Val207Met	p.V207M	ENST00000360564	NM_016155.4	207	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS31927.1	619	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCACCGTGGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF118,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	A:0.0001	ENSP00000353767	.	4/10	.	.	.	.	.	.	.	.	rs368162179	4/10	PASS	ENST00000360564	Transcript	.	.	ENSG00000198598	7163	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	MMP17_HUMAN	MMP17	HGNC	F5H881_HUMAN,F5H249_HUMAN,F5H209_HUMAN,F5GZA7_HUMAN,F5GWR3_HUMAN	.	UPI00001AF305	SNV	MMP17,missense_variant,p.Val123Met,ENST00000535291,;MMP17,missense_variant,p.Val207Met,ENST00000360564,;MMP17,missense_variant,p.Val103Met,ENST00000545671,;MMP17,missense_variant,p.Val48Met,ENST00000534865,;MMP17,upstream_gene_variant,,ENST00000535004,;MMP17,upstream_gene_variant,,ENST00000542648,;MMP17,downstream_gene_variant,,ENST00000545790,;MMP17,non_coding_transcript_exon_variant,,ENST00000535182,;MMP17,upstream_gene_variant,,ENST00000542142,;MMP17,upstream_gene_variant,,ENST00000537848,;	721	25	31	SUCCESS
CHD4	1108	.	GRCh37	12	6682294	6682294	+	synonymous_variant	Silent	SNP	G	G	A	rs778830438	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	18	67	0	ENST00000357008.2:c.5503C>T	p.Leu1835=	p.L1835=	ENST00000357008	NM_001273.2	1835	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8552.1	5503	RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGGTGCT	NONE	byFrequency	.	Pfam_domain:PF08074	.	.	ENSP00000349508	.	38/40	.	.	.	.	.	.	.	.	rs778830438	38/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,synonymous_variant,p.%3D,ENST00000544484,;CHD4,synonymous_variant,p.%3D,ENST00000544040,;CHD4,synonymous_variant,p.%3D,ENST00000309577,;CHD4,synonymous_variant,p.%3D,ENST00000357008,;NOP2,upstream_gene_variant,,ENST00000545915,;NOP2,upstream_gene_variant,,ENST00000399466,;NOP2,upstream_gene_variant,,ENST00000322166,;NOP2,upstream_gene_variant,,ENST00000536124,;NOP2,upstream_gene_variant,,ENST00000540228,;NOP2,upstream_gene_variant,,ENST00000382421,;NOP2,upstream_gene_variant,,ENST00000542867,;NOP2,upstream_gene_variant,,ENST00000545200,;NOP2,upstream_gene_variant,,ENST00000541778,;NOP2,upstream_gene_variant,,ENST00000545492,;NOP2,upstream_gene_variant,,ENST00000542015,;CHD4,upstream_gene_variant,,ENST00000535717,;NOP2,upstream_gene_variant,,ENST00000538697,;NOP2,upstream_gene_variant,,ENST00000538420,;NOP2,upstream_gene_variant,,ENST00000546053,;	5667	67	114	SUCCESS
OTOGL	283310	.	GRCh37	12	80746176	80746176	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1566007022	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	59	0	ENST00000547103.1:c.5304G>C	p.Lys1768Asn	p.K1768N	ENST00000547103		1768	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	.	5340	MUTECT|MUSE|VARSCANS	.	AACAAGTTTGA	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	44/58	.	.	.	.	.	.	.	.	.	44/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	deleterious(0.02)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Lys1780Asn,ENST00000458043,;OTOGL,missense_variant,p.Lys223Asn,ENST00000298820,;OTOGL,missense_variant,p.Lys1768Asn,ENST00000547103,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;	5346	59	63	SUCCESS
NECAP1	25977	.	GRCh37	12	8245601	8245601	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1244038568	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	57	92	0	ENST00000339754.5:c.626A>G	p.His209Arg	p.H209R	ENST00000339754	NM_015509.3	209	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS8589.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCATGTCA	NONE	.	.	hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1	.	.	ENSP00000341737	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000339754	Transcript	.	.	ENSG00000089818	24539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.58)	.	NECP1_HUMAN	NECAP1	HGNC	F5H2U7_HUMAN,A8K3C2_HUMAN	.	UPI000006EB8D	SNV	NECAP1,missense_variant,p.His209Arg,ENST00000339754,;NECAP1,missense_variant,p.His67Arg,ENST00000540083,;NECAP1,3_prime_UTR_variant,,ENST00000450991,;NECAP1,3_prime_UTR_variant,,ENST00000541948,;NECAP1,non_coding_transcript_exon_variant,,ENST00000537796,;NECAP1,downstream_gene_variant,,ENST00000546181,;NECAP1,downstream_gene_variant,,ENST00000544891,;NECAP1,downstream_gene_variant,,ENST00000545807,;NECAP1,downstream_gene_variant,,ENST00000542095,;	704	92	119	SUCCESS
SLC9A7P1	121456	.	GRCh37	12	98848733	98848733	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	20	0	ENST00000554295.1:n.2191G>A		p.*731*	ENST00000554295				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCAGCA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000554295	Transcript	.	.	ENSG00000227825	32679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SLC9A7P1	HGNC	.	.	.	SNV	SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000554295,;SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000556476,;SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000370696,;	2191	20	24	SUCCESS
STOML3	161003	.	GRCh37	13	39542580	39542580	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	49	0	ENST00000379631.4:c.608C>G	p.Ser203Cys	p.S203C	ENST00000379631	NM_145286.2	203	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS9367.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGATCTC	NONE	.	.	hmmpanther:PTHR10264:SF75,hmmpanther:PTHR10264,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593,Prints_domain:PR00721	.	.	ENSP00000368952	.	6/7	.	.	.	.	.	.	.	.	COSM3885328	6/7	PASS	ENST00000379631	Transcript	.	.	ENSG00000133115	19420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.935)	.	deleterious(0)	1	STML3_HUMAN	STOML3	HGNC	.	.	UPI000003615B	SNV	STOML3,missense_variant,p.Ser203Cys,ENST00000379631,;STOML3,missense_variant,p.Ser194Cys,ENST00000423210,;	953	49	45	SUCCESS
BAG5	9529	.	GRCh37	14	104026516	104026516	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1413163116	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	87	0	ENST00000299204.4:c.986G>A	p.Arg329Gln	p.R329Q	ENST00000299204	NM_001015048.2	329	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS41995.1	1109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCGGATG	NONE	.	.	Superfamily_domains:SSF63491,SMART_domains:SM00264,Pfam_domain:PF02179,Gene3D:1.20.58.120,hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF2,PROSITE_profiles:PS51035	.	.	ENSP00000338814	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000337322	Transcript	.	.	ENSG00000166170	941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.19)	.	BAG5_HUMAN	BAG5	HGNC	G3V274_HUMAN	.	UPI00001FDC93	SNV	BAG5,missense_variant,p.Arg329Gln,ENST00000299204,;BAG5,missense_variant,p.Arg370Gln,ENST00000337322,;BAG5,missense_variant,p.Arg329Gln,ENST00000445922,;KLC1,upstream_gene_variant,,ENST00000557172,;APOPT1,upstream_gene_variant,,ENST00000440963,;RP11-73M18.2,upstream_gene_variant,,ENST00000472726,;BAG5,downstream_gene_variant,,ENST00000557666,;APOPT1,upstream_gene_variant,,ENST00000247618,;APOPT1,upstream_gene_variant,,ENST00000409074,;APOPT1,upstream_gene_variant,,ENST00000495778,;APOPT1,upstream_gene_variant,,ENST00000556253,;RP11-894P9.2,intron_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000477116,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000492189,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,upstream_gene_variant,,ENST00000489117,;APOPT1,upstream_gene_variant,,ENST00000554625,;APOPT1,upstream_gene_variant,,ENST00000458117,;	1400	87	96	SUCCESS
SYT16	83851	.	GRCh37	14	62551004	62551004	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	41	85	0	ENST00000430451.2:c.1525C>T	p.Leu509=	p.L509=	ENST00000430451	NM_031914.2	509	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45121.1	1525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCTGTTG	BUFFER|p.A486A|c.1458G>A|3	.	.	Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024	.	.	ENSP00000394700	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,synonymous_variant,p.%3D,ENST00000430451,;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	1722	85	69	SUCCESS
NRXN3	9369	.	GRCh37	14	80158522	80158522	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	64	0	ENST00000557594.1:c.602-5451C>T		p.*201*	ENST00000557594				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9870.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACACTGATA	NONE	.	.	.	.	.	ENSP00000451648	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODIFIER	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Thr203Ile,ENST00000428277,;NRXN3,intron_variant,,ENST00000554719,;NRXN3,intron_variant,,ENST00000281127,;NRXN3,intron_variant,,ENST00000557594,;NRXN3,intron_variant,,ENST00000335750,;RP11-242P2.1,intron_variant,,ENST00000553322,;NRXN3,intron_variant,,ENST00000556003,;NRXN3,missense_variant,p.Thr203Ile,ENST00000555387,;NRXN3,missense_variant,p.Thr1197Ile,ENST00000554738,;	.	64	66	SUCCESS
RYR3	6263	.	GRCh37	15	34130221	34130221	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	16	100	0	ENST00000389232.4:c.12040C>T	p.Leu4014=	p.L4014=	ENST00000389232	NM_001036.3	4014	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45210.1	12040	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCTGTTG	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	89/104	.	.	.	.	.	.	.	.	.	89/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,synonymous_variant,p.%3D,ENST00000389232,;RYR3,synonymous_variant,p.%3D,ENST00000415757,;	12110	100	129	SUCCESS
PDCD7	10081	.	GRCh37	15	65421369	65421369	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs543198741	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	47	0	ENST00000204549.4:c.1009+1G>T		p.X337_splice	ENST00000204549	NM_005707.1	337		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10201.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTACCTTTC	NONE	byCluster	.	.	.	.	ENSP00000204549	.	.	.	.	.	.	.	.	.	.	rs543198741	.	PASS	ENST00000204549	Transcript	.	.	ENSG00000090470	8767	.	.	HIGH	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDCD7_HUMAN	PDCD7	HGNC	Q6IEG3_HUMAN	.	UPI00000731D7	SNV	PDCD7,splice_donor_variant,,ENST00000204549,;PDCD7,splice_donor_variant,,ENST00000560313,;	.	47	72	SUCCESS
DENND4A	10260	.	GRCh37	15	66021923	66021923	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	65	0	ENST00000431932.2:c.1260C>T	p.Ile420=	p.I420=	ENST00000431932	NM_005848.3	420	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS53949.1	1260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGGATAAG	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000391167	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,synonymous_variant,p.%3D,ENST00000564674,;DENND4A,synonymous_variant,p.%3D,ENST00000443035,;DENND4A,synonymous_variant,p.%3D,ENST00000431932,;RAB11A,intron_variant,,ENST00000569304,;DENND4A,non_coding_transcript_exon_variant,,ENST00000568515,;	1476	65	77	SUCCESS
GOLGA2P7	388152	.	GRCh37	15	84868587	84868587	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	9	0	ENST00000316967.6:n.2002C>T		p.*668*	ENST00000316967				0	.	.	.	.	.	A	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE	.	CCCACGGCCCC	NONE	.	4681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408081	Transcript	.	.	ENSG00000221008	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC136698.1	Clone_based_ensembl_gene	.	.	.	SNV	AC136698.1,downstream_gene_variant,,ENST00000408081,;GOLGA2P7,non_coding_transcript_exon_variant,,ENST00000316967,;GOLGA2P7,non_coding_transcript_exon_variant,,ENST00000400817,;GOLGA2P7,non_coding_transcript_exon_variant,,ENST00000559668,;GOLGA2P7,downstream_gene_variant,,ENST00000557980,;GOLGA2P7,downstream_gene_variant,,ENST00000558526,;GOLGA2P7,downstream_gene_variant,,ENST00000561015,;GOLGA2P7,downstream_gene_variant,,ENST00000559654,;GOLGA2P7,downstream_gene_variant,,ENST00000559990,;GOLGA2P7,downstream_gene_variant,,ENST00000557881,;GOLGA2P7,non_coding_transcript_exon_variant,,ENST00000436127,;GOLGA2P7,downstream_gene_variant,,ENST00000456029,;CSPG4P11,downstream_gene_variant,,ENST00000560634,;GOLGA2P7,downstream_gene_variant,,ENST00000560408,;	.	10	10	SUCCESS
NTRK3	4916	.	GRCh37	15	88679766	88679766	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1260748438	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	47	0	ENST00000360948.2:c.697G>A	p.Gly233Ser	p.G233S	ENST00000360948	NM_001012338.2	233	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32322.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCATTGC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416,PROSITE_profiles:PS50835	.	.	ENSP00000354207	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	tolerated(0.3)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.Gly233Ser,ENST00000317501,;NTRK3,missense_variant,p.Gly233Ser,ENST00000558676,;NTRK3,missense_variant,p.Gly233Ser,ENST00000557856,;NTRK3,missense_variant,p.Gly233Ser,ENST00000540489,;NTRK3,missense_variant,p.Gly233Ser,ENST00000357724,;NTRK3,missense_variant,p.Gly233Ser,ENST00000394480,;NTRK3,missense_variant,p.Gly135Ser,ENST00000542733,;NTRK3,missense_variant,p.Gly233Ser,ENST00000355254,;NTRK3,missense_variant,p.Gly233Ser,ENST00000360948,;NTRK3,downstream_gene_variant,,ENST00000559188,;NTRK3,upstream_gene_variant,,ENST00000560017,;NTRK3,upstream_gene_variant,,ENST00000559764,;	859	47	89	SUCCESS
SRRM2	23524	.	GRCh37	16	2814152	2814152	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	23	95	0	ENST00000301740.8:c.3623C>G	p.Thr1208Ser	p.T1208S	ENST00000301740	NM_016333.3	1208	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS32373.1	3623	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAACCCCGC	NONE	.	.	hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.184)	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,missense_variant,p.Thr1208Ser,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,intron_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,upstream_gene_variant,,ENST00000570705,;	4172	95	173	SUCCESS
PRSS8	5652	.	GRCh37	16	31143497	31143497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	77	152	0	ENST00000317508.6:c.865C>A	p.Gln289Lys	p.Q289K	ENST00000317508	NM_002773.3	289	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS45469.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGGAGTT	NONE	.	.	hmmpanther:PTHR24253:SF0,hmmpanther:PTHR24253	.	.	ENSP00000319730	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000317508	Transcript	.	.	ENSG00000052344	9491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.08)	.	PRSS8_HUMAN	PRSS8	HGNC	.	.	UPI0000046DCB	SNV	PRSS8,missense_variant,p.Gln235Lys,ENST00000568261,;PRSS8,missense_variant,p.Gln289Lys,ENST00000317508,;PRSS8,downstream_gene_variant,,ENST00000567797,;KAT8,downstream_gene_variant,,ENST00000543774,;KAT8,downstream_gene_variant,,ENST00000537402,;KAT8,downstream_gene_variant,,ENST00000448516,;KAT8,downstream_gene_variant,,ENST00000219797,;PRSS8,downstream_gene_variant,,ENST00000567531,;RP11-388M20.2,downstream_gene_variant,,ENST00000563605,;PRSS8,downstream_gene_variant,,ENST00000567833,;KAT8,downstream_gene_variant,,ENST00000538768,;KAT8,downstream_gene_variant,,ENST00000573144,;PRSS8,downstream_gene_variant,,ENST00000564025,;	1129	153	232	SUCCESS
ZNF263	10127	.	GRCh37	16	3336206	3336206	+	intron_variant	Intron	SNP	C	C	T	rs140242846	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	31	0	ENST00000219069.5:c.769+57C>T		p.*257*	ENST00000219069	NM_005741.4			0	.	T:0.0015	.	T:0	.	T	.	protein_coding	YES	CCDS10499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCGTTAT	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000219069	T:0	.	.	.	.	.	.	.	.	.	rs140242846	.	PASS	ENST00000219069	Transcript	.	T:0.0004	ENSG00000006194	13056	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN263_HUMAN	ZNF263	HGNC	B4DI05_HUMAN	.	UPI000013C33A	SNV	ZNF263,3_prime_UTR_variant,,ENST00000573578,;ZNF263,intron_variant,,ENST00000538765,;ZNF263,intron_variant,,ENST00000574253,;ZNF263,intron_variant,,ENST00000219069,;ZNF263,intron_variant,,ENST00000575823,;ZNF263,downstream_gene_variant,,ENST00000572748,;ZNF263,upstream_gene_variant,,ENST00000574674,;ZNF263,upstream_gene_variant,,ENST00000575332,;	.	31	67	SUCCESS
CES1	1066	.	GRCh37	16	55844912	55844912	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs778288439	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	49	83	0	ENST00000361503.4:c.1094G>C	p.Ser365Thr	p.S365T	ENST00000361503		365	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS32450.1	1097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAGCTCATC	NONE	.	.	hmmpanther:PTHR11559:SF179,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000353720	.	10/14	.	.	.	.	.	.	.	.	rs778288439	10/14	PASS	ENST00000360526	Transcript	.	.	ENSG00000198848	1863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.21)	.	EST1_HUMAN	CES1	HGNC	B7Z795_HUMAN	.	UPI000054B390	SNV	CES1,missense_variant,p.Ser366Thr,ENST00000360526,;CES1,missense_variant,p.Ser364Thr,ENST00000422046,;CES1,missense_variant,p.Ser365Thr,ENST00000361503,;CES1,upstream_gene_variant,,ENST00000563241,;CES1,3_prime_UTR_variant,,ENST00000569260,;CES1,intron_variant,,ENST00000565568,;	1200	84	97	SUCCESS
DNAAF1	123872	.	GRCh37	16	84203706	84203706	+	synonymous_variant	Silent	SNP	G	G	A	rs772170131	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	48	105	0	ENST00000378553.5:c.1272G>A	p.Ser424=	p.S424=	ENST00000378553	NM_178452.4	424	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10943.2	1272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGTCACC	SITE|p.S424S|c.1272G>A|3	byFrequency	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208	.	.	ENSP00000367815	.	8/12	.	.	.	.	.	.	.	.	rs772170131,COSM435865	8/12	PASS	ENST00000378553	Transcript	.	.	ENSG00000154099	30539	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DAAF1_HUMAN	DNAAF1	HGNC	H3BP51_HUMAN	.	UPI000059D3C9	SNV	DNAAF1,synonymous_variant,p.%3D,ENST00000378553,;DNAAF1,intron_variant,,ENST00000334315,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,intron_variant,,ENST00000563093,;	1396	105	99	SUCCESS
KCNJ12	3768	.	GRCh37	17	21319642	21319642	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368741477	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	111	0	ENST00000331718.5:c.988G>A	p.Val330Met	p.V330M	ENST00000331718	NM_001194958.2	330	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS11219.1	988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGTGCTC	NONE	byFrequency|byCluster	.	Prints_domain:PR01320,Superfamily_domains:SSF81296,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14	.	A:0.0001	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	rs368741477,COSM359076	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.942)	.	tolerated(0.09)	0,1	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,missense_variant,p.Val330Met,ENST00000331718,;KCNJ12,missense_variant,p.Val330Met,ENST00000583088,;	1883	111	86	SUCCESS
SUPT6H	6830	.	GRCh37	17	27014460	27014460	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	46	0	ENST00000314616.6:c.2977G>T	p.Gly993Ter	p.G993*	ENST00000314616	NM_003170.3	993	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS32596.1	2977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGGACCT	NONE	.	.	Superfamily_domains:SSF47781,PIRSF_domain:PIRSF036947,Gene3D:3bzcA04,Pfam_domain:PF14635,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145	.	.	ENSP00000319104	.	23/37	.	.	.	.	.	.	.	.	.	23/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,stop_gained,p.Gly993Ter,ENST00000314616,;SUPT6H,stop_gained,p.Gly993Ter,ENST00000347486,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000585230,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000581908,;SUPT6H,upstream_gene_variant,,ENST00000583972,;	3260	46	69	SUCCESS
NAGLU	4669	.	GRCh37	17	40689495	40689495	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	59	0	ENST00000225927.2:c.463G>C	p.Asp155His	p.D155H	ENST00000225927	NM_000263.3	155	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS11427.1	463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGACTGG	NONE	.	.	hmmpanther:PTHR12872,Pfam_domain:PF05089,Superfamily_domains:SSF51445	.	.	ENSP00000225927	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000225927	Transcript	.	.	ENSG00000108784	7632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANAG_HUMAN	NAGLU	HGNC	.	.	UPI000013C885	SNV	NAGLU,missense_variant,p.Asp51His,ENST00000590358,;NAGLU,missense_variant,p.Asp155His,ENST00000225927,;NAGLU,intron_variant,,ENST00000591587,;NAGLU,intron_variant,,ENST00000586516,;NAGLU,upstream_gene_variant,,ENST00000592454,;RP11-400F19.8,intron_variant,,ENST00000585572,;PTP4A2P1,downstream_gene_variant,,ENST00000590314,;	564	59	99	SUCCESS
HOXB5	3215	.	GRCh37	17	46670974	46670974	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs199857901	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	25	136	0	ENST00000239151.5:c.71A>C	p.Tyr24Ser	p.Y24S	ENST00000239151	NM_002147.3	24	tAt/tCt	0	.	C:0	.	C:0	.	G	Y/S	protein_coding	YES	CCDS11530.1	71	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATAATTT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF165,hmmpanther:PTHR24326	C:0.001	.	ENSP00000239151	C:0	1/2	.	.	.	.	.	.	.	.	rs199857901	1/2	PASS	ENST00000239151	Transcript	.	C:0.0002	ENSG00000120075	5116	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	C:0	deleterious(0)	.	HXB5_HUMAN	HOXB5	HGNC	.	.	UPI000012CF58	SNV	HOXB5,missense_variant,p.Tyr24Ser,ENST00000239151,;HOXB6,downstream_gene_variant,,ENST00000225648,;HOXB3,upstream_gene_variant,,ENST00000476342,;HOXB6,downstream_gene_variant,,ENST00000484302,;HOXB3,upstream_gene_variant,,ENST00000460160,;HOXB3,upstream_gene_variant,,ENST00000498678,;HOXB3,upstream_gene_variant,,ENST00000472863,;HOXB-AS3,intron_variant,,ENST00000487849,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,intron_variant,,ENST00000429755,;HOXB-AS3,intron_variant,,ENST00000492897,;HOXB-AS3,upstream_gene_variant,,ENST00000481995,;HOXB-AS3,upstream_gene_variant,,ENST00000466037,;HOXB-AS3,upstream_gene_variant,,ENST00000460041,;HOXB-AS3,upstream_gene_variant,,ENST00000477144,;HOXB-AS3,upstream_gene_variant,,ENST00000474324,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000490419,;HOXB6,downstream_gene_variant,,ENST00000470193,;	350	136	191	SUCCESS
TOB1	10140	.	GRCh37	17	48941376	48941376	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	34	34	0	ENST00000268957.3:c.3G>T	p.Met1?	p.M1?	ENST00000268957	NM_001243877.1	1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS11576.1	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCATAGC	NONE	.	.	Pfam_domain:PF07742,SMART_domains:SM00099,Superfamily_domains:SSF160696	.	.	ENSP00000427695	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000499247	Transcript	.	.	ENSG00000141232	11979	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TOB1_HUMAN	TOB1	HGNC	.	.	UPI00001370FB	SNV	TOB1,start_lost,p.Met1?,ENST00000499247,;TOB1,start_lost,p.Met1?,ENST00000268957,;TOB1-AS1,upstream_gene_variant,,ENST00000416263,;TOB1-AS1,upstream_gene_variant,,ENST00000514358,;TOB1-AS1,upstream_gene_variant,,ENST00000523470,;TOB1,intron_variant,,ENST00000509385,;	437	34	60	SUCCESS
TEX14	56155	.	GRCh37	17	56665261	56665261	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs369322235	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	18	61	0	ENST00000240361.8:c.2716A>G	p.Thr906Ala	p.T906A	ENST00000240361		906	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS56042.1	2716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTAGAGT	NONE	.	.	hmmpanther:PTHR23060	.	.	ENSP00000240361	.	16/33	.	.	.	.	.	.	.	.	rs369322235	16/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.66)	.	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,missense_variant,p.Thr900Ala,ENST00000349033,;TEX14,missense_variant,p.Thr900Ala,ENST00000389934,;TEX14,missense_variant,p.Thr906Ala,ENST00000240361,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	2802	61	114	SUCCESS
GPRC5C	55890	.	GRCh37	17	72436225	72436225	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751740086	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	33	34	0	ENST00000392627.1:c.445G>A	p.Val149Met	p.V149M	ENST00000392627	NM_022036.2	149	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS11699.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGTGTTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF7,Pfam_domain:PF00003	.	.	ENSP00000376403	.	2/4	.	.	.	.	.	.	.	.	rs751740086	2/4	PASS	ENST00000392627	Transcript	.	.	ENSG00000170412	13309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GPC5C_HUMAN	GPRC5C	HGNC	J9JIE0_HUMAN,J3QQN3_HUMAN	.	UPI0000231CB2	SNV	GPRC5C,missense_variant,p.Val104Met,ENST00000582444,;GPRC5C,missense_variant,p.Val116Met,ENST00000392629,;GPRC5C,missense_variant,p.Val124Met,ENST00000392628,;GPRC5C,missense_variant,p.Val65Met,ENST00000581590,;GPRC5C,missense_variant,p.Val149Met,ENST00000392627,;GPRC5C,intron_variant,,ENST00000481232,;GPRC5C,intron_variant,,ENST00000342648,;GPRC5C,downstream_gene_variant,,ENST00000582473,;GPRC5C,upstream_gene_variant,,ENST00000582873,;GPRC5C,upstream_gene_variant,,ENST00000482723,;	1571	34	63	SUCCESS
TP53	7157	.	GRCh37	17	7578211	7578211	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs587778720	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	42	134	0	ENST00000269305.4:c.638G>T	p.Arg213Leu	p.R213L	ENST00000269305	NM_001126112.2	213	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11118.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided,pathogenic	TATGTCGAAAA	SITE|p.R213L|c.638G>T|12,SITE|p.R213L|c.638G>T|4,SITE|p.R213L|c.638G>T|39,SITE|p.R120L|c.359G>T|12,SITE|p.R81L|c.242G>T|12,SITE|p.R213L|c.638G>T|6,SITE|p.R213L|c.638G>T|12,CODON|p.0?|c.1_1182del1182|6,CODON|p.R213R|c.639A>G|6,CODON|p.R81Q|c.242G>A|9,CODON|p.R213Q|c.638G>A|9,CODON|p.R213Q|c.638G>A|31,CODON|p.R213P|c.638G>C|6,CODON|p.R120Q|c.359G>A|9,CODON|p.R213Q|c.638G>A|4,CODON|p.R213Q|c.638G>A|9,CODON|p.R213Q|c.638G>A|3,CODON|p.R213fs*34|c.637delC|3,BUFFER|p.V218delV|c.646_648delGTG|8,BUFFER|p.V216G|c.647T>G|5,BUFFER|p.V216A|c.647T>C|3,BUFFER|p.V216E|c.647T>A|4,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|12,BUFFER|p.V123M|c.367G>A|20,BUFFER|p.V216L|c.646G>T|8,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|7,BUFFER|p.V216M|c.646G>A|70,BUFFER|p.V84M|c.250G>A|20,BUFFER|p.S215R|c.645T>G|3,BUFFER|p.S215R|c.645T>A|4,BUFFER|p.S122R|c.366T>A|4,BUFFER|p.S215R|c.645T>G|13,BUFFER|p.S215R|c.645T>A|4,BUFFER|p.S83R|c.249T>A|4,BUFFER|p.S122R|c.366T>G|3,BUFFER|p.S215R|c.645T>G|3,BUFFER|p.S83R|c.249T>G|3,BUFFER|p.S215R|c.645T>A|8,BUFFER|p.S215I|c.644G>T|4,BUFFER|p.S215I|c.644G>T|4,BUFFER|p.S215I|c.644G>T|19,BUFFER|p.S215T|c.644G>C|3,BUFFER|p.S83I|c.248G>T|4,BUFFER|p.S122I|c.365G>T|4,BUFFER|p.S215N|c.644G>A|8,BUFFER|p.S215C|c.643A>T|4,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S83G|c.247A>G|3,BUFFER|p.S215G|c.643A>G|10,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S122G|c.364A>G|3,BUFFER|p.H214Q|c.642T>G|3,BUFFER|p.H214R|c.641A>G|66,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|5,BUFFER|p.H82R|c.245A>G|18,BUFFER|p.H121R|c.362A>G|16,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|6,BUFFER|p.H214Y|c.640C>T|5,BUFFER|p.H214D|c.640C>G|4,BUFFER|p.F212fs*3|c.635_636delTT|5,BUFFER|p.R213*|c.637C>T|45,BUFFER|p.R120*|c.358C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R81*|c.241C>T|87,BUFFER|p.R213*|c.637C>T|267,BUFFER|p.R213*|c.637C>T|33,BUFFER|p.F212fs*3|c.634_635delTT|6,BUFFER|p.R213fs*34|c.634delT|5,BUFFER|p.T211T|c.633T>C|9,BUFFER|p.T211I|c.632C>T|3,BUFFER|p.T211I|c.632C>T|11,BUFFER|p.T211N|c.632C>A|4,BUFFER|p.T118I|c.353C>T|3,BUFFER|p.T79I|c.236C>T|3,BUFFER|p.T211I|c.632C>T|3,BUFFER|p.T211fs*36|c.631delA|4,BUFFER|p.T211A|c.631A>G|3,BUFFER|p.N210fs*37|c.628delA|3,BUFFER|p.R209fs*6|c.626_627delGA|3,BUFFER|p.R116fs*6|c.347_348delGA|3,BUFFER|p.R209fs*6|c.626_627delGA|3,BUFFER|p.R209fs*6|c.626_627delGA|11,BUFFER|p.R77fs*6|c.230_231delGA|3,BUFFER|p.R209fs*6|c.625_626delAG|23	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM022474,rs587778720,CM004906,TP53_g.12707G>C,TP53_g.12707G>T,TP53_g.12707G>A,COSM10735,COSM11860,COSM43650,COSM3717650,COSM131466,COSM241998,COSM131467,COSM241997,COSM3717653,COSM131469,COSM241999,COSM3717655,COSM3378349,COSM3403265,COSM3717652,COSM1741334,COSM1726594,COSM3717651,COSM131468,COSM242000,COSM3717654	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg213Leu,ENST00000413465,;TP53,missense_variant,p.Arg213Leu,ENST00000420246,;TP53,missense_variant,p.Arg213Leu,ENST00000269305,;TP53,missense_variant,p.Arg81Leu,ENST00000509690,;TP53,missense_variant,p.Arg213Leu,ENST00000359597,;TP53,missense_variant,p.Arg120Leu,ENST00000514944,;TP53,missense_variant,p.Arg213Leu,ENST00000445888,;TP53,missense_variant,p.Arg213Leu,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	828	134	90	SUCCESS
ME2	4200	.	GRCh37	18	48452204	48452204	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	106	178	0	ENST00000321341.5:c.1250T>C	p.Phe417Ser	p.F417S	ENST00000321341	NM_002396.4	417	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS11948.1	1250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATTTGCAT	NONE	.	.	hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF12,Gene3D:3.40.50.720,Pfam_domain:PF03949,SMART_domains:SM00919,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF51735,Prints_domain:PR00072	.	.	ENSP00000321070	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000321341	Transcript	.	.	ENSG00000082212	6984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MAOM_HUMAN	ME2	HGNC	.	.	UPI000012EBAA	SNV	ME2,missense_variant,p.Phe417Ser,ENST00000382927,;ME2,missense_variant,p.Phe417Ser,ENST00000321341,;ME2,upstream_gene_variant,,ENST00000585680,;	1522	178	259	SUCCESS
KEAP1	9817	.	GRCh37	19	10610255	10610255	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	98	0	ENST00000171111.5:c.455T>G	p.Val152Gly	p.V152G	ENST00000171111	NM_203500.1	152	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS12239.1	455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGACACAC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Val152Gly,ENST00000591419,;KEAP1,missense_variant,p.Val152Gly,ENST00000591039,;KEAP1,missense_variant,p.Val152Gly,ENST00000393623,;KEAP1,missense_variant,p.Val152Gly,ENST00000171111,;KEAP1,missense_variant,p.Val152Gly,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Cys109Trp,ENST00000585845,;	1003	98	63	SUCCESS
TMED1	11018	.	GRCh37	19	10943770	10943770	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	95	0	ENST00000214869.2:c.585C>A	p.Phe195Leu	p.F195L	ENST00000214869	NM_006858.3	195	ttC/ttA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45969.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGAAGTT	NONE	.	1191	.	.	.	ENSP00000373905	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389253	Transcript	1	.	ENSG00000079805	2974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYN2_HUMAN	DNM2	HGNC	Q8N1K8_HUMAN,K7EPK9_HUMAN	.	UPI000049A626	SNV	DNM2,missense_variant,p.Gln48His,ENST00000591818,;TMED1,missense_variant,p.Phe177Leu,ENST00000589638,;TMED1,missense_variant,p.Phe50Leu,ENST00000588289,;TMED1,missense_variant,p.Phe195Leu,ENST00000214869,;TMED1,missense_variant,p.Ser134Tyr,ENST00000591695,;TMED1,3_prime_UTR_variant,,ENST00000586835,;DNM2,downstream_gene_variant,,ENST00000359692,;DNM2,downstream_gene_variant,,ENST00000585892,;C19orf38,upstream_gene_variant,,ENST00000592854,;DNM2,downstream_gene_variant,,ENST00000389253,;DNM2,downstream_gene_variant,,ENST00000355667,;DNM2,downstream_gene_variant,,ENST00000314646,;DNM2,downstream_gene_variant,,ENST00000589106,;DNM2,downstream_gene_variant,,ENST00000408974,;TMED1,3_prime_UTR_variant,,ENST00000591157,;TMED1,3_prime_UTR_variant,,ENST00000588259,;DNM2,non_coding_transcript_exon_variant,,ENST00000593203,;DNM2,downstream_gene_variant,,ENST00000590806,;	.	95	63	SUCCESS
NXNL1	115861	.	GRCh37	19	17571528	17571528	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374915427	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	49	0	ENST00000301944.2:c.151G>T	p.Val51Leu	p.V51L	ENST00000301944	NM_138454.1	51	Gtg/Ttg	0	T:0.0002	.	.	.	.	A	V/L	protein_coding	YES	CCDS12360.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACGAAGG	NONE	byCluster	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF13905,hmmpanther:PTHR13871:SF25,hmmpanther:PTHR13871,PROSITE_profiles:PS51352	.	T:0	ENSP00000305631	.	1/2	.	.	.	.	.	.	.	.	rs374915427	1/2	PASS	ENST00000301944	Transcript	.	.	ENSG00000171773	25179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.22)	.	NXNL1_HUMAN	NXNL1	HGNC	.	.	UPI00000540D3	SNV	NXNL1,missense_variant,p.Val51Leu,ENST00000301944,;CTD-2521M24.10,5_prime_UTR_variant,,ENST00000594663,;AC010319.1,downstream_gene_variant,,ENST00000410873,;	236	49	43	SUCCESS
WDR87	83889	.	GRCh37	19	38377966	38377966	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	35	153	0	ENST00000303868.5:c.6228C>G	p.Ile2076Met	p.I2076M	ENST00000303868	NM_031951.3	2076	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS46063.1	6228	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAGATTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.575)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Ile2115Met,ENST00000447313,;WDR87,missense_variant,p.Ile2076Met,ENST00000303868,;	6453	153	216	SUCCESS
SHISA7	729956	.	GRCh37	19	55944926	55944926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	46	0	ENST00000376325.4:c.1214C>A	p.Ala405Glu	p.A405E	ENST00000376325	NM_001145176.1	405	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS46193.1	1214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGCGCGC	NONE	.	.	hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2	.	.	ENSP00000365503	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376325	Transcript	.	.	ENSG00000187902	35409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(1)	.	SHSA7_HUMAN	SHISA7	HGNC	.	.	UPI000193055E	SNV	SHISA7,missense_variant,p.Ala405Glu,ENST00000376325,;SHISA7,3_prime_UTR_variant,,ENST00000416792,;	1214	46	43	SUCCESS
KCNA10	3744	.	GRCh37	1	111060812	111060812	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs150505266	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	47	165	0	ENST00000369771.2:c.598C>A	p.Arg200Ser	p.R200S	ENST00000369771	NM_005549.2	200	Cgt/Agt	0	A:0	.	.	.	.	T	R/S	protein_coding	YES	CCDS826.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGGTGGA	CODON|p.R200H|c.599G>A|5	byCluster	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF44,Gene3D:1.20.120.350	.	A:0.0003	ENSP00000358786	.	1/1	.	.	.	.	.	.	.	.	rs150505266,COSM1332610,COSM1332611	1/1	PASS	ENST00000369771	Transcript	.	.	ENSG00000143105	6219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.2)	.	deleterious(0)	0,1,1	KCA10_HUMAN	KCNA10	HGNC	Q7KYZ7_HUMAN	.	UPI0000071B2B	SNV	KCNA10,missense_variant,p.Arg200Ser,ENST00000369771,;	986	165	166	SUCCESS
CD5L	922	.	GRCh37	1	157803136	157803136	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	77	104	0	ENST00000368174.4:c.885C>T	p.Phe295=	p.F295=	ENST00000368174	NM_005894.2	295	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS1171.1	885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGAAGGA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,synonymous_variant,p.%3D,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	982	104	157	SUCCESS
NADK	65220	.	GRCh37	1	1686825	1686825	+	frameshift_variant	Frame_Shift_Ins	INS	G	G	TTTCC	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	48	0	ENST00000341426.5:c.676delinsGGAAA	p.Gln226GlyfsTer37	p.Q226Gfs*37	ENST00000341426	NM_023018.4	226	Cag/GGAAAag	0	.	.	.	.	.	TTTCC	Q/GKX	protein_coding	YES	CCDS55562.1	1111	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TCACCTGAGTAA	NONE	.	.	HAMAP:MF_00361,hmmpanther:PTHR20275:SF8,hmmpanther:PTHR20275,Gene3D:3.40.50.10330,Pfam_domain:PF01513,Superfamily_domains:SSF111331	.	.	ENSP00000340925	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000344463	Transcript	.	.	ENSG00000008130	29831	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NADK_HUMAN	NADK	HGNC	.	.	UPI000013CBEB	substitution	NADK,frameshift_variant,p.Gln371GlyfsTer37,ENST00000378625,;NADK,frameshift_variant,p.Gln371GlyfsTer37,ENST00000344463,;NADK,frameshift_variant,p.Gln194GlyfsTer?,ENST00000400922,;NADK,frameshift_variant,p.Gln226GlyfsTer37,ENST00000341991,;NADK,frameshift_variant,p.Gln194GlyfsTer37,ENST00000342348,;NADK,frameshift_variant,p.Gln226GlyfsTer37,ENST00000341426,;NADK,3_prime_UTR_variant,,ENST00000469045,;NADK,downstream_gene_variant,,ENST00000492768,;NADK,3_prime_UTR_variant,,ENST00000497186,;NADK,non_coding_transcript_exon_variant,,ENST00000477235,;NADK,non_coding_transcript_exon_variant,,ENST00000480499,;NADK,intron_variant,,ENST00000489538,;NADK,downstream_gene_variant,,ENST00000460602,;NADK,upstream_gene_variant,,ENST00000498806,;NADK,downstream_gene_variant,,ENST00000492845,;NADK,upstream_gene_variant,,ENST00000497615,;NADK,upstream_gene_variant,,ENST00000497747,;	1333	48	105	SUCCESS
EPB41	2035	.	GRCh37	1	29314060	29314060	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	323	125	312	0	ENST00000343067.4:c.111A>G	p.Glu37=	p.E37=	ENST00000343067	NM_001166005.1	37	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS53288.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAATCTTG	NONE	.	.	PIRSF_domain:PIRSF002304	.	.	ENSP00000345259	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000343067	Transcript	.	.	ENSG00000159023	3377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	41_HUMAN	EPB41	HGNC	.	.	UPI000014177D	SNV	EPB41,synonymous_variant,p.%3D,ENST00000356093,;EPB41,synonymous_variant,p.%3D,ENST00000373798,;EPB41,synonymous_variant,p.%3D,ENST00000347529,;EPB41,synonymous_variant,p.%3D,ENST00000398863,;EPB41,synonymous_variant,p.%3D,ENST00000373797,;EPB41,synonymous_variant,p.%3D,ENST00000343067,;EPB41,5_prime_UTR_variant,,ENST00000373800,;EPB41,5_prime_UTR_variant,,ENST00000349460,;Y_RNA,downstream_gene_variant,,ENST00000383977,;EPB41,non_coding_transcript_exon_variant,,ENST00000482464,;RP4-604A21.1,upstream_gene_variant,,ENST00000425821,;	238	312	448	SUCCESS
CCDC24	149473	.	GRCh37	1	44457670	44457670	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	47	110	0	ENST00000372318.3:c.120G>A	p.Arg40=	p.R40=	ENST00000372318	NM_152499.1	40	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS507.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGGCGGA	NONE	.	.	.	.	.	ENSP00000361392	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000372318	Transcript	.	.	ENSG00000159214	28688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD24_HUMAN	CCDC24	HGNC	.	.	UPI000006EE2D	SNV	CCDC24,synonymous_variant,p.%3D,ENST00000372318,;CCDC24,synonymous_variant,p.%3D,ENST00000466180,;SLC6A9,splice_region_variant,,ENST00000372306,;SLC6A9,splice_region_variant,,ENST00000372307,;B4GALT2,downstream_gene_variant,,ENST00000372324,;SLC6A9,downstream_gene_variant,,ENST00000372310,;B4GALT2,downstream_gene_variant,,ENST00000309519,;B4GALT2,downstream_gene_variant,,ENST00000356836,;B4GALT2,downstream_gene_variant,,ENST00000434555,;CCDC24,upstream_gene_variant,,ENST00000479055,;CCDC24,upstream_gene_variant,,ENST00000472562,;CCDC24,synonymous_variant,p.%3D,ENST00000490064,;CCDC24,synonymous_variant,p.%3D,ENST00000486504,;CCDC24,synonymous_variant,p.%3D,ENST00000463846,;CCDC24,synonymous_variant,p.%3D,ENST00000460543,;CCDC24,synonymous_variant,p.%3D,ENST00000486064,;CCDC24,non_coding_transcript_exon_variant,,ENST00000490563,;CCDC24,non_coding_transcript_exon_variant,,ENST00000485811,;	291	110	117	SUCCESS
CAMTA1	23261	.	GRCh37	1	6845578	6845580	+	5_prime_UTR_variant	5'UTR	DEL	GAG	GAG	-	rs755609750	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	GAG	GAG	.	.	.	.	.	.	.	.	.	.	.	.	.	84	6	59	0	ENST00000303635.7:c.-2_1del		p.*1*	ENST00000303635	NM_015215.2			0	-:0.0316	.	.	.	.	-	.	protein_coding	YES	CCDS30576.1	.	INDELOCATOR|VARSCANI	.	GGTCGCGAGGAGGA	NONE	.	.	.	.	-:0.0359	ENSP00000306522	.	1/23	.	.	.	.	.	.	.	.	rs755609750	1/23	common_in_exac	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	11	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	deletion	CAMTA1,5_prime_UTR_variant,,ENST00000557126,;CAMTA1,5_prime_UTR_variant,,ENST00000467404,;CAMTA1,5_prime_UTR_variant,,ENST00000303635,;CAMTA1,5_prime_UTR_variant,,ENST00000473578,;CAMTA1,upstream_gene_variant,,ENST00000439411,;RP11-312B8.1,upstream_gene_variant,,ENST00000442889,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000476163,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000490738,;CAMTA1,upstream_gene_variant,,ENST00000461311,;	195-197	59	91	SUCCESS
HFM1	164045	.	GRCh37	1	91841093	91841093	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	52	191	0	ENST00000370425.3:c.1587C>A	p.Pro529=	p.P529=	ENST00000370425	NM_001017975.3	529	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS30769.2	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTGGGTTT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000359454	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,synonymous_variant,p.%3D,ENST00000370424,;HFM1,synonymous_variant,p.%3D,ENST00000370425,;HFM1,5_prime_UTR_variant,,ENST00000294696,;HFM1,downstream_gene_variant,,ENST00000448819,;HFM1,downstream_gene_variant,,ENST00000481900,;HFM1,downstream_gene_variant,,ENST00000488023,;	1686	191	278	SUCCESS
SNRPB	6628	.	GRCh37	20	2443047	2443047	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	21	0	ENST00000438552.2:c.685+235A>G		p.*229*	ENST00000438552	NM_198216.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13026.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTGAGGC	NONE	.	.	.	.	.	ENSP00000412566	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000438552	Transcript	1	.	ENSG00000125835	11153	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSMB_HUMAN	SNRPB	HGNC	.	.	UPI00001351FF	SNV	SNRPB,3_prime_UTR_variant,,ENST00000339610,;SNRPB,intron_variant,,ENST00000438552,;SNRPB,intron_variant,,ENST00000381342,;SNORD119,downstream_gene_variant,,ENST00000515997,;SNRPB,intron_variant,,ENST00000474384,;RP4-734P14.4,downstream_gene_variant,,ENST00000461548,;	.	21	31	SUCCESS
R3HDML	140902	.	GRCh37	20	42979420	42979420	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	39	110	0	ENST00000217043.2:c.750C>G	p.Phe250Leu	p.F250L	ENST00000217043	NM_178491.3	250	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS13329.1	750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCACGTG	NONE	.	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62	.	.	ENSP00000217043	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000217043	Transcript	.	.	ENSG00000101074	16249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CRSPL_HUMAN	R3HDML	HGNC	.	.	UPI00000422F8	SNV	R3HDML,missense_variant,p.Phe250Leu,ENST00000217043,;HNF4A,upstream_gene_variant,,ENST00000316673,;RP5-881L22.5,non_coding_transcript_exon_variant,,ENST00000430481,;RP5-881L22.5,non_coding_transcript_exon_variant,,ENST00000438702,;	922	110	167	SUCCESS
YTHDF1	54915	.	GRCh37	20	61847279	61847279	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	13	0	ENST00000370339.3:c.-35G>T		p.*12*	ENST00000370339	NM_017798.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13511.1	.	MUTECT|MUSE	.	GGCGCCCGCCG	NONE	.	.	.	.	.	ENSP00000359364	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000370339	Transcript	.	.	ENSG00000149658	15867	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YTHD1_HUMAN	YTHDF1	HGNC	F8W840_HUMAN	.	UPI0000128DD9	SNV	YTHDF1,5_prime_UTR_variant,,ENST00000370334,;YTHDF1,5_prime_UTR_variant,,ENST00000370339,;	308	13	24	SUCCESS
WDR4	10785	.	GRCh37	21	44272435	44272435	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	13	71	0	ENST00000330317.2:c.976-1G>T		p.X326_splice	ENST00000330317	NM_033661.4	326		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13691.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGACTGCAG	NONE	.	.	.	.	.	ENSP00000381266	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398208	Transcript	.	.	ENSG00000160193	12756	.	.	HIGH	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR4_HUMAN	WDR4	HGNC	.	.	UPI00000372F0	SNV	WDR4,splice_acceptor_variant,,ENST00000398208,;WDR4,splice_acceptor_variant,,ENST00000330317,;WDR4,splice_acceptor_variant,,ENST00000492742,;WDR4,splice_acceptor_variant,,ENST00000476326,;WDR4,downstream_gene_variant,,ENST00000479429,;WDR4,downstream_gene_variant,,ENST00000463902,;	.	71	81	SUCCESS
ANKRD54	129138	.	GRCh37	22	38228664	38228664	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	34	0	ENST00000215941.4:c.808A>G	p.Met270Val	p.M270V	ENST00000215941	NM_138797.2	270	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS13959.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCTGCA	NONE	.	.	hmmpanther:PTHR24197:SF33,hmmpanther:PTHR24197	.	.	ENSP00000215941	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000215941	Transcript	.	.	ENSG00000100124	25185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.56)	.	ANR54_HUMAN	ANKRD54	HGNC	.	.	UPI0000073164	SNV	ANKRD54,missense_variant,p.Met150Val,ENST00000406423,;ANKRD54,missense_variant,p.Met254Val,ENST00000411961,;ANKRD54,missense_variant,p.Met270Val,ENST00000215941,;ANKRD54,missense_variant,p.Met77Val,ENST00000609454,;ANKRD54,missense_variant,p.Met186Val,ENST00000458278,;ANKRD54,downstream_gene_variant,,ENST00000424350,;ANKRD54,downstream_gene_variant,,ENST00000434930,;ANKRD54,non_coding_transcript_exon_variant,,ENST00000498417,;ANKRD54,downstream_gene_variant,,ENST00000464849,;ANKRD54,missense_variant,p.Met137Val,ENST00000407117,;ANKRD54,downstream_gene_variant,,ENST00000413497,;	1001	34	52	SUCCESS
THSD7B	80731	.	GRCh37	2	138163316	138163316	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	25	139	0	ENST00000272643.3:c.2634C>G	p.Ser878=	p.S878=	ENST00000272643		878	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	.	2634	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCAAGTT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Gene3D:2.20.100.10,SMART_domains:SM00209	.	.	ENSP00000272643	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,synonymous_variant,p.%3D,ENST00000409968,;THSD7B,synonymous_variant,p.%3D,ENST00000413152,;THSD7B,synonymous_variant,p.%3D,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;	2634	139	181	SUCCESS
CYTIP	9595	.	GRCh37	2	158272222	158272222	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	236	212	327	0	ENST00000264192.3:c.1047T>C	p.His349=	p.H349=	ENST00000264192	NM_004288.4	349	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS2204.1	1047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGATGAAG	NONE	.	.	hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF1	.	.	ENSP00000264192	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000264192	Transcript	.	.	ENSG00000115165	9506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYTIP_HUMAN	CYTIP	HGNC	C9JSM2_HUMAN,C9JRF8_HUMAN,C9JNN8_HUMAN,B4DWH9_HUMAN	.	UPI0000035D67	SNV	CYTIP,synonymous_variant,p.%3D,ENST00000264192,;CYTIP,synonymous_variant,p.%3D,ENST00000540637,;CYTIP,downstream_gene_variant,,ENST00000418920,;CYTIP,downstream_gene_variant,,ENST00000457793,;	1169	327	448	SUCCESS
STAT4	6775	.	GRCh37	2	192012877	192012877	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	69	90	0	ENST00000358470.4:c.53T>A	p.Val18Glu	p.V18E	ENST00000358470	NM_001243835.1	18	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS2310.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCACCTGC	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Pfam_domain:PF02865,Gene3D:1bgfA00,SMART_domains:SM00964,Superfamily_domains:0035539	.	.	ENSP00000376134	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000392320	Transcript	.	.	ENSG00000138378	11365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	STAT4_HUMAN	STAT4	HGNC	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN	.	UPI00000015F2	SNV	STAT4,missense_variant,p.Val18Glu,ENST00000432798,;STAT4,missense_variant,p.Val18Glu,ENST00000358470,;STAT4,missense_variant,p.Val18Glu,ENST00000392320,;STAT4,missense_variant,p.Val18Glu,ENST00000450994,;STAT4,missense_variant,p.Val18Glu,ENST00000409995,;STAT4,splice_region_variant,,ENST00000413064,;STAT4,non_coding_transcript_exon_variant,,ENST00000495326,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;	368	90	150	SUCCESS
SP140	11262	.	GRCh37	2	231115713	231115714	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	71	0	ENST00000392045.3:c.994_995del	p.Ser332ArgfsTer4	p.S332Rfs*4	ENST00000392045	NM_007237.4	332	TCa/a	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS42831.1	994-995	INDELOCATOR|VARSCANI	.	GACTGTTCAGAAA	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1	.	.	ENSP00000375899	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000392045	Transcript	.	.	ENSG00000079263	17133	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	deletion	SP140,frameshift_variant,p.Ser306ArgfsTer4,ENST00000343805,;SP140,frameshift_variant,p.Ser332ArgfsTer4,ENST00000392045,;SP140,frameshift_variant,p.Ser256ArgfsTer4,ENST00000486687,;SP140,frameshift_variant,p.Ser332ArgfsTer4,ENST00000420434,;SP140,intron_variant,,ENST00000417495,;SP140,intron_variant,,ENST00000350136,;	1108-1109	71	112	SUCCESS
SP140	11262	.	GRCh37	2	231115716	231115716	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	18	68	0	ENST00000392045.3:c.997del	p.Glu333LysfsTer15	p.E333Kfs*15	ENST00000392045	NM_007237.4	333	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS42831.1	997	INDELOCATOR|VARSCANI	.	TGTTCAGAAATG	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1	.	.	ENSP00000375899	.	10/27	.	.	.	.	.	.	.	.	COSM1742397	10/27	PASS	ENST00000392045	Transcript	.	.	ENSG00000079263	17133	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	deletion	SP140,frameshift_variant,p.Glu307LysfsTer15,ENST00000343805,;SP140,frameshift_variant,p.Glu333LysfsTer15,ENST00000392045,;SP140,frameshift_variant,p.Glu257LysfsTer15,ENST00000486687,;SP140,frameshift_variant,p.Glu333LysfsTer15,ENST00000420434,;SP140,intron_variant,,ENST00000417495,;SP140,intron_variant,,ENST00000350136,;	1111	68	114	SUCCESS
NGEF	25791	.	GRCh37	2	233759597	233759597	+	synonymous_variant	Silent	SNP	C	C	T	rs527494178	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	30	90	0	ENST00000264051.3:c.858G>A	p.Ala286=	p.A286=	ENST00000264051	NM_019850.2	286	gcG/gcA	0	.	T:0.0008	.	T:0	.	T	A	protein_coding	YES	CCDS2500.1	858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGACGCCTC	NONE	by1000G	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	T:0	.	ENSP00000264051	T:0	6/15	.	.	.	.	.	.	.	.	rs527494178	6/15	PASS	ENST00000264051	Transcript	.	T:0.0002	ENSG00000066248	7807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NGEF_HUMAN	NGEF	HGNC	C9JTV7_HUMAN,B4DDI2_HUMAN	.	UPI000013D4AE	SNV	NGEF,synonymous_variant,p.%3D,ENST00000420650,;NGEF,synonymous_variant,p.%3D,ENST00000373552,;NGEF,synonymous_variant,p.%3D,ENST00000409079,;NGEF,synonymous_variant,p.%3D,ENST00000458735,;NGEF,synonymous_variant,p.%3D,ENST00000264051,;NGEF,synonymous_variant,p.%3D,ENST00000416114,;NGEF,synonymous_variant,p.%3D,ENST00000539537,;NGEF,upstream_gene_variant,,ENST00000424488,;NGEF,upstream_gene_variant,,ENST00000461944,;	1137	90	141	SUCCESS
PER2	8864	.	GRCh37	2	239161961	239161961	+	synonymous_variant	Silent	SNP	C	C	T	rs575531966	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	11	114	0	ENST00000254657.3:c.2703G>A	p.Ala901=	p.A901=	ENST00000254657	NM_022817.2	901	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2528.1	2703	MUTECT|MUSE|VARSCANS	.	ACAGGCGCCAA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	.	.	ENSP00000254657	.	19/23	.	.	.	.	.	.	.	.	rs575531966	19/23	PASS	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,synonymous_variant,p.%3D,ENST00000254657,;PER2,3_prime_UTR_variant,,ENST00000254658,;AC096574.4,intron_variant,,ENST00000456601,;	2983	114	139	SUCCESS
ATAD2B	54454	.	GRCh37	2	24149798	24149798	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	51	0	ENST00000238789.5:c.-158C>T		p.*53*	ENST00000238789	NM_001242338.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46227.1	.	MUTECT|MUSE	.	GCCGGGCAGAG	NONE	.	.	.	.	.	ENSP00000238789	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,5_prime_UTR_variant,,ENST00000439915,;ATAD2B,5_prime_UTR_variant,,ENST00000238789,;UBXN2A,upstream_gene_variant,,ENST00000404924,;UBXN2A,upstream_gene_variant,,ENST00000446425,;	187	51	49	SUCCESS
TTC27	55622	.	GRCh37	2	33042572	33042572	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	32	98	0	ENST00000317907.4:c.2359del	p.Met787CysfsTer32	p.M787Cfs*32	ENST00000317907	NM_017735.4	786	cAa/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS33176.1	2357	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTACAAATGC	NONE	.	.	hmmpanther:PTHR16193	.	.	ENSP00000313953	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000317907	Transcript	.	.	ENSG00000018699	25986	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC27_HUMAN	TTC27	HGNC	C9JVS4_HUMAN,B4DRC7_HUMAN	.	UPI0000208226	deletion	TTC27,frameshift_variant,p.Met787CysfsTer32,ENST00000317907,;TTC27,downstream_gene_variant,,ENST00000428527,;	2588	98	157	SUCCESS
VPS54	51542	.	GRCh37	2	64189527	64189527	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	52	76	0	ENST00000272322.4:c.675T>G	p.Ser225=	p.S225=	ENST00000272322		225	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS33208.1	675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAGAGAGAT	NONE	.	.	hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965,Pfam_domain:PF10475	.	.	ENSP00000272322	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,synonymous_variant,p.%3D,ENST00000354504,;VPS54,synonymous_variant,p.%3D,ENST00000272322,;VPS54,synonymous_variant,p.%3D,ENST00000409558,;	830	76	105	SUCCESS
DYSF	8291	.	GRCh37	2	71740979	71740979	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs564416027	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	143	173	0	ENST00000258104.3:c.591C>A	p.Tyr197Ter	p.Y197*	ENST00000258104	NM_003494.3	197	taC/taA	0	.	T:0.0008	.	T:0	.	A	Y/*	protein_coding	YES	CCDS46328.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTACCCCGG	NONE	by1000G	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35	T:0	.	ENSP00000386881	T:0	7/56	.	.	.	.	.	.	.	.	rs564416027,CM090599,DYSF:c.591C>G,COSM721917,COSM1149218	7/56	PASS	ENST00000410020	Transcript	.	T:0.0002	ENSG00000135636	3097	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,0,1,1	.	.	.	T:0	.	0,0,0,1,1	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,stop_gained,p.Tyr228Ter,ENST00000409582,;DYSF,stop_gained,p.Tyr229Ter,ENST00000410020,;DYSF,stop_gained,p.Tyr198Ter,ENST00000409744,;DYSF,stop_gained,p.Tyr197Ter,ENST00000429174,;DYSF,stop_gained,p.Tyr228Ter,ENST00000409762,;DYSF,stop_gained,p.Tyr229Ter,ENST00000410041,;DYSF,stop_gained,p.Tyr229Ter,ENST00000409651,;DYSF,stop_gained,p.Tyr198Ter,ENST00000394120,;DYSF,stop_gained,p.Tyr198Ter,ENST00000409366,;DYSF,stop_gained,p.Tyr228Ter,ENST00000413539,;DYSF,stop_gained,p.Tyr197Ter,ENST00000258104,;	828	174	308	SUCCESS
CCT7	10574	.	GRCh37	2	73479950	73479950	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	87	157	0	ENST00000258091.5:c.1593A>T	p.Thr531=	p.T531=	ENST00000258091	NM_006429.3	531	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46336.1	1593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGCAGC	NONE	.	.	hmmpanther:PTHR11353:SF22,hmmpanther:PTHR11353	.	.	ENSP00000258091	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000258091	Transcript	.	.	ENSG00000135624	1622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPH_HUMAN	CCT7	HGNC	F8WAM2_HUMAN	.	UPI0000136B06	SNV	CCT7,synonymous_variant,p.%3D,ENST00000540468,;CCT7,synonymous_variant,p.%3D,ENST00000258091,;CCT7,synonymous_variant,p.%3D,ENST00000538797,;CCT7,synonymous_variant,p.%3D,ENST00000398422,;CCT7,synonymous_variant,p.%3D,ENST00000539919,;CCT7,synonymous_variant,p.%3D,ENST00000537131,;FBXO41,downstream_gene_variant,,ENST00000295133,;FBXO41,downstream_gene_variant,,ENST00000521871,;CCT7,downstream_gene_variant,,ENST00000473786,;CCT7,downstream_gene_variant,,ENST00000488856,;	1734	157	197	SUCCESS
MORC1	27136	.	GRCh37	3	108818307	108818307	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	77	1	ENST00000232603.5:c.321C>T	p.Ser107=	p.S107=	ENST00000232603	NM_014429.3	107	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2955.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGGACCC	NONE	.	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6,Pfam_domain:PF13589,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000232603	.	6/28	.	.	.	.	.	.	.	.	COSM3585107	6/28	PASS	ENST00000232603	Transcript	.	.	ENSG00000114487	7198	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,synonymous_variant,p.%3D,ENST00000483760,;MORC1,synonymous_variant,p.%3D,ENST00000232603,;MORC1-AS1,upstream_gene_variant,,ENST00000480826,;	404	78	61	SUCCESS
CD80	941	.	GRCh37	3	119263513	119263513	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	45	110	0	ENST00000264246.3:c.302T>C	p.Ile101Thr	p.I101T	ENST00000264246	NM_005191.3	101	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2989.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAATGGAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR25462:SF214,hmmpanther:PTHR25462,PROSITE_profiles:PS50835	.	.	ENSP00000264246	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000264246	Transcript	.	.	ENSG00000121594	1700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CD80_HUMAN	CD80	HGNC	Q6LCB7_HUMAN,A0N0P2_HUMAN	.	UPI000000D9F5	SNV	CD80,missense_variant,p.Ile101Thr,ENST00000383668,;CD80,missense_variant,p.Ile101Thr,ENST00000264246,;CD80,missense_variant,p.Ile101Thr,ENST00000383669,;CD80,missense_variant,p.Ile101Thr,ENST00000478182,;CD80,non_coding_transcript_exon_variant,,ENST00000463729,;	665	110	111	SUCCESS
GPR156	165829	.	GRCh37	3	119886025	119886025	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	103	0	ENST00000315843.3:c.2299T>G	p.Phe767Val	p.F767V	ENST00000315843	NM_153002.2	767	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS2997.1	2299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAGCAGA	NONE	.	.	.	.	.	ENSP00000417261	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000464295	Transcript	.	.	ENSG00000175697	20844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GP156_HUMAN	GPR156	HGNC	.	.	UPI000004731C	SNV	GPR156,missense_variant,p.Phe767Val,ENST00000315843,;GPR156,missense_variant,p.Phe763Val,ENST00000461057,;GPR156,missense_variant,p.Phe767Val,ENST00000464295,;GPR156,3_prime_UTR_variant,,ENST00000495912,;	2745	103	95	SUCCESS
OTOL1	131149	.	GRCh37	3	161221396	161221396	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs570932275	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	79	0	ENST00000327928.4:c.1100A>T	p.Tyr367Phe	p.Y367F	ENST00000327928	NM_001080440.1	367	tAt/tTt	0	.	T:0	.	T:0	.	T	Y/F	protein_coding	YES	CCDS46948.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTATAATG	NONE	by1000G	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF25,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	T:0.001	.	ENSP00000330808	T:0	4/4	.	.	.	.	.	.	.	.	rs570932275	4/4	PASS	ENST00000327928	Transcript	.	T:0.0002	ENSG00000182447	34071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	T:0	deleterious(0.03)	.	OTOL1_HUMAN	OTOL1	HGNC	.	.	UPI0000D61BA3	SNV	OTOL1,missense_variant,p.Tyr367Phe,ENST00000327928,;	1100	79	83	SUCCESS
SLMAP	7871	.	GRCh37	3	57882955	57882955	+	intron_variant	Intron	SNP	G	G	A	rs761249268	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	35	0	ENST00000428312.1:c.1450+296G>A		p.*484*	ENST00000428312				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33774.1	.	MUTECT|MUSE	.	TTAGCGCTTTT	NONE	.	.	.	.	.	ENSP00000295951	.	.	.	.	.	.	.	.	.	.	rs761249268	.	PASS	ENST00000295951	Transcript	.	.	ENSG00000163681	16643	.	.	MODIFIER	15/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,3_prime_UTR_variant,,ENST00000383718,;SLMAP,intron_variant,,ENST00000494088,;SLMAP,intron_variant,,ENST00000449503,;SLMAP,intron_variant,,ENST00000461354,;SLMAP,intron_variant,,ENST00000495364,;SLMAP,intron_variant,,ENST00000416658,;SLMAP,intron_variant,,ENST00000417128,;SLMAP,intron_variant,,ENST00000428312,;SLMAP,intron_variant,,ENST00000438794,;SLMAP,intron_variant,,ENST00000442599,;SLMAP,intron_variant,,ENST00000416870,;SLMAP,intron_variant,,ENST00000466255,;SLMAP,intron_variant,,ENST00000295951,;SLMAP,intron_variant,,ENST00000295952,;SLMAP,downstream_gene_variant,,ENST00000465203,;SLMAP,intron_variant,,ENST00000472546,;SLMAP,downstream_gene_variant,,ENST00000475055,;SLMAP,intron_variant,,ENST00000459654,;	.	35	38	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128977574	128977574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	82	0	ENST00000274487.4:c.1775G>T	p.Trp592Leu	p.W592L	ENST00000274487	NM_133638.3	592	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS4146.1	1775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATGGTGCA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,SMART_domains:SM00608	.	.	ENSP00000274487	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Trp592Leu,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1920	82	115	SUCCESS
ACSL6	23305	.	GRCh37	5	131310509	131310509	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	111	243	0	ENST00000379240.1:c.993+77G>C		p.*331*	ENST00000379240				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34229.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACAAGTG	NONE	.	.	.	.	.	ENSP00000368566	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379264	Transcript	.	.	ENSG00000164398	16496	.	.	MODIFIER	11/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSL6_HUMAN	ACSL6	HGNC	G3V1S9_HUMAN,C9JPA5_HUMAN,C9JK59_HUMAN,C9J4I1_HUMAN,C9J3Z0_HUMAN,B3KV64_HUMAN	.	UPI00004BA928	SNV	ACSL6,missense_variant,p.Cys312Ser,ENST00000543479,;ACSL6,missense_variant,p.Cys337Ser,ENST00000296869,;ACSL6,missense_variant,p.Cys312Ser,ENST00000379244,;ACSL6,missense_variant,p.Cys312Ser,ENST00000379249,;ACSL6,missense_variant,p.Cys277Ser,ENST00000434099,;ACSL6,intron_variant,,ENST00000379272,;ACSL6,intron_variant,,ENST00000379240,;ACSL6,intron_variant,,ENST00000544770,;ACSL6,intron_variant,,ENST00000379246,;ACSL6,intron_variant,,ENST00000379264,;ACSL6,intron_variant,,ENST00000431707,;ACSL6,intron_variant,,ENST00000357096,;ACSL6,intron_variant,,ENST00000379255,;ACSL6,missense_variant,p.Cys312Ser,ENST00000413683,;ACSL6,intron_variant,,ENST00000484870,;ACSL6,upstream_gene_variant,,ENST00000493861,;	.	243	226	SUCCESS
H2AFY	0	.	GRCh37	5	134705791	134705791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	48	0	ENST00000511689.1:c.214A>G	p.Lys72Glu	p.K72E	ENST00000511689	NM_138610.2	72	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4185.1	214	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTTCTTGTTGT	NONE	.	.	hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF20,Pfam_domain:PF00125,Gene3D:1.10.20.10,PIRSF_domain:PIRSF037942,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000423563	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000511689	Transcript	.	.	ENSG00000113648	4740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	H2AY_HUMAN	H2AFY	HGNC	.	.	UPI00000723ED	SNV	H2AFY,missense_variant,p.Lys72Glu,ENST00000510038,;H2AFY,missense_variant,p.Lys72Glu,ENST00000304332,;H2AFY,missense_variant,p.Lys72Glu,ENST00000312469,;H2AFY,missense_variant,p.Lys72Glu,ENST00000511689,;H2AFY,intron_variant,,ENST00000423969,;H2AFY,non_coding_transcript_exon_variant,,ENST00000506532,;H2AFY,non_coding_transcript_exon_variant,,ENST00000508785,;H2AFY,non_coding_transcript_exon_variant,,ENST00000360597,;H2AFY,non_coding_transcript_exon_variant,,ENST00000513210,;H2AFY,non_coding_transcript_exon_variant,,ENST00000508120,;H2AFY,missense_variant,p.Lys72Glu,ENST00000506671,;H2AFY,non_coding_transcript_exon_variant,,ENST00000506218,;H2AFY,non_coding_transcript_exon_variant,,ENST00000507868,;H2AFY,non_coding_transcript_exon_variant,,ENST00000504197,;	808	48	39	SUCCESS
SPATA24	202051	.	GRCh37	5	138737606	138737606	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	58	0	ENST00000450845.2:c.312A>G		p.X104_splice	ENST00000450845	NM_194296.1	104	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS47274.1	312	MUTECT|MUSE	.	CACGCTTTTTC	NONE	.	.	Pfam_domain:PF15175	.	.	ENSP00000414920	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000450845	Transcript	.	.	ENSG00000170469	27322	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPA24_HUMAN	SPATA24	HGNC	.	.	UPI0000198A05	SNV	SPATA24,synonymous_variant,p.%3D,ENST00000450845,;SPATA24,synonymous_variant,p.%3D,ENST00000509959,;SPATA24,synonymous_variant,p.%3D,ENST00000512761,;SPATA24,synonymous_variant,p.%3D,ENST00000302091,;SPATA24,synonymous_variant,p.%3D,ENST00000451821,;SPATA24,synonymous_variant,p.%3D,ENST00000514983,;SPATA24,synonymous_variant,p.%3D,ENST00000507779,;	320	58	46	SUCCESS
ARAP3	64411	.	GRCh37	5	141060026	141060026	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746697562	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	28	0	ENST00000239440.4:c.28G>T	p.Ala10Ser	p.A10S	ENST00000239440	NM_022481.5	10	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS4266.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGATGT	NONE	byFrequency	.	PROSITE_profiles:PS50105,Pfam_domain:PF07647,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000239440	.	2/33	.	.	.	.	.	.	.	.	rs746697562,COSM159142	2/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.374)	.	tolerated(0.13)	0,1	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,missense_variant,p.Ala10Ser,ENST00000239440,;ARAP3,missense_variant,p.Ala10Ser,ENST00000504448,;ARAP3,5_prime_UTR_variant,,ENST00000508305,;	94	28	15	SUCCESS
MARCH11	0	.	GRCh37	5	16067614	16067614	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs781465967	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	57	0	ENST00000332432.8:c.1175C>A	p.Ser392Ter	p.S392*	ENST00000332432	NM_001102562.1	392	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS47192.1	1175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGAGCTG	CODON|p.S392L|c.1175C>T|3	.	.	hmmpanther:PTHR23012:SF67,hmmpanther:PTHR23012	.	.	ENSP00000333181	.	4/4	.	.	.	.	.	.	.	.	rs781465967,COSM1567800	4/4	PASS	ENST00000332432	Transcript	.	.	ENSG00000183654	33609	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MARHB_HUMAN	MARCH11	HGNC	.	.	UPI00015B3D4A	SNV	MARCH11,stop_gained,p.Ser392Ter,ENST00000332432,;MARCH11,3_prime_UTR_variant,,ENST00000507111,;	1375	57	88	SUCCESS
SIM1	6492	.	GRCh37	6	100896042	100896042	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	34	0	ENST00000262901.4:c.830T>G	p.Leu277Arg	p.L277R	ENST00000262901	NM_005068.2	277	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5045.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCAGGTGG	NONE	.	.	hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Pfam_domain:PF08447,Gene3D:3.30.450.20,SMART_domains:SM00091,Superfamily_domains:SSF55785	.	.	ENSP00000358210	.	8/12	.	.	.	.	.	.	.	.	COSM1292176	8/12	PASS	ENST00000369208	Transcript	.	.	ENSG00000112246	10882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.862)	.	deleterious(0)	1	SIM1_HUMAN	SIM1	HGNC	.	.	UPI000013D355	SNV	SIM1,missense_variant,p.Leu277Arg,ENST00000369208,;SIM1,missense_variant,p.Leu277Arg,ENST00000262901,;	1613	34	44	SUCCESS
GRIK2	2898	.	GRCh37	6	102516350	102516350	+	synonymous_variant	Silent	SNP	C	C	T	rs761836841	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	48	93	0	ENST00000421544.1:c.2691C>T	p.Asn897=	p.N897=	ENST00000421544	NM_021956.4	897	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS5048.1	2691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAACGACAG	NONE	byFrequency	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38	.	.	ENSP00000397026	.	16/16	.	.	.	.	.	.	.	.	rs761836841	16/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,synonymous_variant,p.%3D,ENST00000421544,;GRIK2,synonymous_variant,p.%3D,ENST00000369134,;GRIK2,synonymous_variant,p.%3D,ENST00000369137,;GRIK2,3_prime_UTR_variant,,ENST00000369138,;GRIK2,3_prime_UTR_variant,,ENST00000413795,;GRIK2,downstream_gene_variant,,ENST00000318991,;	3181	93	127	SUCCESS
THEMIS	387357	.	GRCh37	6	128222087	128222087	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	46	0	ENST00000368248.2:c.-10A>C		p.*4*	ENST00000368248	NM_001010923.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55056.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTTGGGT	NONE	.	.	.	.	.	ENSP00000439594	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,5_prime_UTR_variant,,ENST00000368250,;THEMIS,5_prime_UTR_variant,,ENST00000368248,;THEMIS,5_prime_UTR_variant,,ENST00000543064,;THEMIS,5_prime_UTR_variant,,ENST00000434358,;THEMIS,intron_variant,,ENST00000537166,;	140	46	67	SUCCESS
TDRD6	221400	.	GRCh37	6	46657236	46657236	+	synonymous_variant	Silent	SNP	A	A	G	rs769106093	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	31	0	ENST00000316081.6:c.1371A>G	p.Pro457=	p.P457=	ENST00000316081	NM_001010870.2	457	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS34470.1	1371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCAGAAAC	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	rs769106093	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,synonymous_variant,p.%3D,ENST00000316081,;TDRD6,synonymous_variant,p.%3D,ENST00000544460,;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	1371	31	53	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47200685	47200685	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	22	73	0	ENST00000296861.2:c.1784A>G	p.Asp595Gly	p.D595G	ENST00000296861	NM_014452.4	595	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4921.1	1784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGTCACAG	NONE	.	.	hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097,Gene3D:1.10.533.10	.	.	ENSP00000296861	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,missense_variant,p.Asp595Gly,ENST00000296861,;	2178	73	107	SUCCESS
PTP4A1	7803	.	GRCh37	6	64289208	64289208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	440	32	284	0	ENST00000370651.3:c.376T>C	p.Tyr126His	p.Y126H	ENST00000370651	NM_003463.4	126	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS4965.1	376	MUTECT|MUSE	.	TGAAATACGAA	NONE	.	.	Superfamily_domains:SSF52799,SMART_domains:SM00404,Pfam_domain:PF00782,Gene3D:3.90.190.10,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF55,PROSITE_profiles:PS50056	.	.	ENSP00000359685	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000370651	Transcript	.	.	ENSG00000112245	9634	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.161)	.	tolerated(0.12)	.	TP4A1_HUMAN	PTP4A1	HGNC	.	.	UPI00000227B8	SNV	PTP4A1,missense_variant,p.Tyr126His,ENST00000370651,;PTP4A1,intron_variant,,ENST00000370650,;PTP4A1,downstream_gene_variant,,ENST00000578299,;PTP4A1,downstream_gene_variant,,ENST00000470661,;PTP4A1,downstream_gene_variant,,ENST00000473334,;	1529	284	473	SUCCESS
CYP3A5	1577	.	GRCh37	7	99277529	99277529	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	48	0	ENST00000222982.4:c.-10G>A		p.*4*	ENST00000222982	NM_000777.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5672.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCCTTCT	NONE	.	.	.	.	.	ENSP00000222982	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,5_prime_UTR_variant,,ENST00000222982,;CYP3A5,5_prime_UTR_variant,,ENST00000339843,;CYP3A5,5_prime_UTR_variant,,ENST00000439761,;CYP3A5,5_prime_UTR_variant,,ENST00000343703,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,5_prime_UTR_variant,,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;CYP3A5,upstream_gene_variant,,ENST00000469887,;	91	48	66	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813325	106813325	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201845067	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	34	80	0	ENST00000407775.2:c.1015G>A	p.Val339Ile	p.V339I	ENST00000407775	NM_012082.3	339	Gtc/Atc	0	A:0	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS47908.1	1015	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGTCTGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0.003	A:0.0001	ENSP00000384179	A:0	8/8	.	.	.	.	.	.	.	.	rs201845067	8/8	PASS	ENST00000407775	Transcript	1	A:0.0006	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	A:0	tolerated(0.85)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Val207Ile,ENST00000517361,;ZFPM2,missense_variant,p.Val70Ile,ENST00000378472,;ZFPM2,missense_variant,p.Val207Ile,ENST00000520492,;ZFPM2,missense_variant,p.Val339Ile,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1265	80	165	SUCCESS
CSMD3	114788	.	GRCh37	8	113323351	113323351	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759390316	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	61	59	1	ENST00000297405.5:c.7741A>G	p.Ile2581Val	p.I2581V	ENST00000297405	NM_198123.1	2581	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6315.1	7741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGATAATAT	BUFFER|p.G2578E|c.7733G>A|3,BUFFER|p.G2538E|c.7613G>A|3	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	50/71	.	.	.	.	.	.	.	.	rs759390316	50/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.59)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ile2511Val,ENST00000352409,;CSMD3,missense_variant,p.Ile2477Val,ENST00000455883,;CSMD3,missense_variant,p.Ile2581Val,ENST00000297405,;CSMD3,missense_variant,p.Ile1851Val,ENST00000339701,;CSMD3,missense_variant,p.Ile2541Val,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7986	60	130	SUCCESS
TIGD5	84948	.	GRCh37	8	144680335	144680335	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	53	76	0	ENST00000321385.3:c.115C>A	p.Leu39Met	p.L39M	ENST00000321385		39	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS6406.2	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGCTGCGC	NONE	.	.	PROSITE_profiles:PS50960,hmmpanther:PTHR19303:SF210,hmmpanther:PTHR19303,Pfam_domain:PF04218,Gene3D:1.10.10.60,Superfamily_domains:SSF46689	.	.	ENSP00000421489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504548	Transcript	.	.	ENSG00000179886	18336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TIGD5_HUMAN	TIGD5	HGNC	.	.	UPI0001BAE24C	SNV	TIGD5,missense_variant,p.Leu88Met,ENST00000504548,;TIGD5,missense_variant,p.Leu39Met,ENST00000321385,;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,;EEF1D,upstream_gene_variant,,ENST00000528610,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000419152,;EEF1D,upstream_gene_variant,,ENST00000526838,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000395119,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000317198,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000442189,;RP11-661A12.14,upstream_gene_variant,,ENST00000606452,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;	262	76	164	SUCCESS
FAM83H	286077	.	GRCh37	8	144810307	144810307	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs782732391	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1211	274	772	0	ENST00000388913.3:c.1324del	p.Arg442AlafsTer103	p.R442Afs*103	ENST00000388913	NM_198488.3	442	Cgc/gc	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS6410.2	1324	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAAGCGGAAGT	NONE	byFrequency	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	.	.	ENSP00000373565	.	5/5	.	.	.	.	.	.	.	.	rs782732391	5/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	deletion	FAM83H,frameshift_variant,p.Arg442AlafsTer103,ENST00000388913,;MIR4664,downstream_gene_variant,,ENST00000583819,;FAM83H,frameshift_variant,p.Arg169AlafsTer103,ENST00000395103,;	1450	772	1485	SUCCESS
PCM1	5108	.	GRCh37	8	17812976	17812976	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs770875511	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	68	0	ENST00000325083.8:c.1289-3C>T		p.X430_splice	ENST00000325083	NM_006197.3	430		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47812.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCAGCCT	NONE	.	.	.	.	.	ENSP00000327077	.	.	.	.	.	.	.	.	.	.	rs770875511	.	PASS	ENST00000325083	Transcript	1	.	ENSG00000078674	8727	.	.	LOW	9/38	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCM1_HUMAN	PCM1	HGNC	E5RGQ4_HUMAN	.	UPI0000210A25	SNV	PCM1,splice_region_variant,,ENST00000524226,;PCM1,splice_region_variant,,ENST00000519253,;PCM1,splice_region_variant,,ENST00000517730,;PCM1,splice_region_variant,,ENST00000325083,;PCM1,splice_region_variant,,ENST00000518537,;PCM1,downstream_gene_variant,,ENST00000523055,;PCM1,downstream_gene_variant,,ENST00000518930,;PCM1,upstream_gene_variant,,ENST00000518762,;PCM1,upstream_gene_variant,,ENST00000517836,;	.	68	60	SUCCESS
SH2D4A	63898	.	GRCh37	8	19176973	19176973	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	68	0	ENST00000265807.3:c.-86C>G		p.*29*	ENST00000265807	NM_022071.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6009.1	.	MUTECT|MUSE	.	AACGCCCAAGT	NONE	.	.	.	.	.	ENSP00000265807	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000265807	Transcript	.	.	ENSG00000104611	26102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SH24A_HUMAN	SH2D4A	HGNC	.	.	UPI000007372B	SNV	SH2D4A,5_prime_UTR_variant,,ENST00000265807,;SH2D4A,5_prime_UTR_variant,,ENST00000519207,;SH2D4A,intron_variant,,ENST00000518040,;SH2D4A,upstream_gene_variant,,ENST00000523736,;	326	68	75	SUCCESS
CSMD1	64478	.	GRCh37	8	3046528	3046528	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	93	0	ENST00000537824.1:c.5404T>C	p.Cys1802Arg	p.C1802R	ENST00000537824	NM_033225.5	1802	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS55189.1	5404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCAGGGTA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.10.70.10,SMART_domains:SM00042,Superfamily_domains:SSF49854,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	35/70	.	.	.	.	.	.	.	.	.	35/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Cys1803Arg,ENST00000400186,;CSMD1,missense_variant,p.Cys1802Arg,ENST00000542608,;CSMD1,missense_variant,p.Cys1803Arg,ENST00000602723,;CSMD1,missense_variant,p.Cys1283Arg,ENST00000335551,;CSMD1,missense_variant,p.Cys1802Arg,ENST00000537824,;CSMD1,missense_variant,p.Cys1803Arg,ENST00000520002,;CSMD1,missense_variant,p.Cys1802Arg,ENST00000539096,;CSMD1,missense_variant,p.Cys1803Arg,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	5404	93	77	SUCCESS
SVEP1	79987	.	GRCh37	9	113261434	113261434	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778809311	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	86	0	ENST00000374469.1:c.1499C>T	p.Thr500Met	p.T500M	ENST00000374469		500	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS48004.1	1568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGTCCCA	CODON|p.T523T|c.1569G>A|3	byFrequency	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	7/48	.	.	.	.	.	.	.	.	rs778809311	7/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Thr523Met,ENST00000401783,;SVEP1,missense_variant,p.Thr500Met,ENST00000374469,;SVEP1,missense_variant,p.Thr523Met,ENST00000302728,;SVEP1,missense_variant,p.Thr500Met,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	1905	86	111	SUCCESS
SLC35D2	11046	.	GRCh37	9	99113414	99113414	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	115	0	ENST00000253270.7:c.459C>T	p.Ala153=	p.A153=	ENST00000253270	NM_007001.2	153	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6717.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATGGCAAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11132:SF46,hmmpanther:PTHR11132	.	.	ENSP00000253270	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000253270	Transcript	.	.	ENSG00000130958	20799	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35D2_HUMAN	SLC35D2	HGNC	Q5VZJ2_HUMAN	.	UPI000003778E	SNV	SLC35D2,synonymous_variant,p.%3D,ENST00000253270,;SLC35D2,synonymous_variant,p.%3D,ENST00000375257,;SLC35D2,synonymous_variant,p.%3D,ENST00000375259,;SLC35D2,non_coding_transcript_exon_variant,,ENST00000482643,;	522	115	152	SUCCESS
FAM199X	139231	.	GRCh37	X	103420443	103420443	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	59	0	ENST00000493442.1:c.337C>G	p.Pro113Ala	p.P113A	ENST00000493442	NM_207318.3	113	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS35364.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCCTGAG	NONE	.	.	hmmpanther:PTHR32003:SF1,hmmpanther:PTHR32003	.	.	ENSP00000417581	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000493442	Transcript	.	.	ENSG00000123575	25195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	tolerated_low_confidence(0.06)	.	F199X_HUMAN	FAM199X	HGNC	B0QYU2_HUMAN	.	UPI00001C2069	SNV	FAM199X,missense_variant,p.Pro113Ala,ENST00000493442,;	503	59	79	SUCCESS
DCX	1641	.	GRCh37	X	110654106	110654106	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	174	330	0	ENST00000338081.3:c.97C>A	p.Gln33Lys	p.Q33K	ENST00000338081	NM_000555.3	33	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS14556.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGAAGAG	NONE	.	.	.	.	.	ENSP00000337697	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000338081	Transcript	.	.	ENSG00000077279	2714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	DCX_HUMAN	DCX	HGNC	E7EU50_HUMAN	.	UPI000013D33F	SNV	DCX,missense_variant,p.Gln33Lys,ENST00000338081,;DCX,missense_variant,p.Gln25Lys,ENST00000358070,;DCX,intron_variant,,ENST00000371993,;DCX,intron_variant,,ENST00000468911,;DCX,intron_variant,,ENST00000356220,;DCX,intron_variant,,ENST00000488120,;DCX,intron_variant,,ENST00000356915,;DCX,intron_variant,,ENST00000496551,;	269	330	453	SUCCESS
MIR890	100126303	.	GRCh37	X	145075809	145075809	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	18	93	0	ENST00000401256.1:n.61G>A		p.*21*	ENST00000401256				0	.	.	.	.	.	T	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTACTCAGAAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000401256	Transcript	.	.	ENSG00000216075	33644	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MIR890	HGNC	.	.	.	SNV	MIR890,non_coding_transcript_exon_variant,,ENST00000401256,;MIR888,downstream_gene_variant,,ENST00000401186,;MIR892A,downstream_gene_variant,,ENST00000401124,;AL445258.1,upstream_gene_variant,,ENST00000401213,;MIR892B,downstream_gene_variant,,ENST00000401279,;hsa-mir-892c,upstream_gene_variant,,ENST00000516410,;	61	93	140	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20211662	20211662	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	53	0	ENST00000379565.3:c.536T>G	p.Leu179Arg	p.L179R	ENST00000379565	NM_004586.2	179	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS14197.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAAGTGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Leu150Arg,ENST00000379548,;RPS6KA3,missense_variant,p.Leu179Arg,ENST00000379565,;RPS6KA3,missense_variant,p.Leu151Arg,ENST00000540702,;RPS6KA3,missense_variant,p.Leu151Arg,ENST00000544447,;RPS6KA3,missense_variant,p.Leu150Arg,ENST00000457145,;RPS6KA3,downstream_gene_variant,,ENST00000438357,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;	744	53	77	SUCCESS
ABCB7	22	.	GRCh37	X	74295382	74295382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	53	176	0	ENST00000373394.3:c.670A>G	p.Arg224Gly	p.R224G	ENST00000373394		224	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS14428.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTTCGGA	NONE	.	.	Superfamily_domains:SSF90123,Gene3D:2hydA01,Pfam_domain:PF00664,hmmpanther:PTHR24221:SF18,hmmpanther:PTHR24221,PROSITE_profiles:PS50929	.	.	ENSP00000253577	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000253577	Transcript	.	.	ENSG00000131269	48	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.545)	.	deleterious(0.05)	.	ABCB7_HUMAN	ABCB7	HGNC	.	.	UPI0000169E78	SNV	ABCB7,missense_variant,p.Arg198Gly,ENST00000529949,;ABCB7,missense_variant,p.Arg169Gly,ENST00000534524,;ABCB7,missense_variant,p.Arg224Gly,ENST00000373394,;ABCB7,missense_variant,p.Arg184Gly,ENST00000339447,;ABCB7,missense_variant,p.Arg225Gly,ENST00000253577,;ABCB7,downstream_gene_variant,,ENST00000526404,;ABCB7,upstream_gene_variant,,ENST00000534570,;ABCB7,upstream_gene_variant,,ENST00000469368,;	698	176	243	SUCCESS
MCMBP	79892	.	GRCh37	10	121616948	121616948	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	57	98	0	ENST00000360003.3:c.331C>T	p.Gln111Ter	p.Q111*	ENST00000360003	NM_001256378.1	111	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS7617.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGAGGCT	NONE	.	.	Pfam_domain:PF09739,hmmpanther:PTHR13489,hmmpanther:PTHR13489:SF0	.	.	ENSP00000353098	.	5/16	.	.	.	.	.	.	.	.	COSM683078	5/16	PASS	ENST00000360003	Transcript	.	.	ENSG00000197771	25782	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MCMBP_HUMAN	MCMBP	HGNC	.	.	UPI0000070023	SNV	MCMBP,stop_gained,p.Gln111Ter,ENST00000360003,;MCMBP,stop_gained,p.Gln111Ter,ENST00000369077,;MCMBP,non_coding_transcript_exon_variant,,ENST00000466047,;MCMBP,non_coding_transcript_exon_variant,,ENST00000495407,;MCMBP,downstream_gene_variant,,ENST00000569515,;	501	98	101	SUCCESS
PCDH15	65217	.	GRCh37	10	55721536	55721536	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	6	122	0	ENST00000320301.6:c.2985T>C	p.Asn995=	p.N995=	ENST00000320301	NM_033056.3	995	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS44404.1	2985	MUTECT|MUSE	.	TCTTCATTAAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	22/34	.	.	.	.	.	.	.	.	.	22/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000409834,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395438,;PCDH15,synonymous_variant,p.%3D,ENST00000414778,;PCDH15,synonymous_variant,p.%3D,ENST00000373965,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	3380	122	156	SUCCESS
ZNF365	22891	.	GRCh37	10	64159446	64159446	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	25	104	0	ENST00000395254.3:c.1122C>A	p.Cys374Ter	p.C374*	ENST00000395254	NM_014951.2	374	tgC/tgA	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7264.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCAGACC	NONE	.	.	.	.	.	ENSP00000387091	.	.	.	.	.	.	.	.	.	.	COSM3358803	.	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,stop_gained,p.Cys374Ter,ENST00000395254,;ZNF365,intron_variant,,ENST00000410046,;ZNF365,intron_variant,,ENST00000395255,;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,;	.	104	125	SUCCESS
TMPRSS4	56649	.	GRCh37	11	117973865	117973865	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	69	0	ENST00000437212.3:c.207C>T	p.His69=	p.H69=	ENST00000437212		69	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS31684.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACTTCAT	NONE	.	.	Superfamily_domains:SSF57424,SMART_domains:SM00192,Gene3D:4.10.400.10	.	.	ENSP00000416037	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000437212	Transcript	.	.	ENSG00000137648	11878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS4_HUMAN	TMPRSS4	HGNC	.	.	UPI00001FA467	SNV	TMPRSS4,synonymous_variant,p.%3D,ENST00000437212,;TMPRSS4,synonymous_variant,p.%3D,ENST00000517544,;TMPRSS4,synonymous_variant,p.%3D,ENST00000523251,;TMPRSS4,synonymous_variant,p.%3D,ENST00000534111,;TMPRSS4,synonymous_variant,p.%3D,ENST00000522824,;TMPRSS4,5_prime_UTR_variant,,ENST00000522307,;TMPRSS4,intron_variant,,ENST00000522151,;TMPRSS4,synonymous_variant,p.%3D,ENST00000519236,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000519813,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000522462,;TMPRSS4,downstream_gene_variant,,ENST00000520063,;TMPRSS4,upstream_gene_variant,,ENST00000528118,;	421	69	94	SUCCESS
OR4X2	119764	.	GRCh37	11	48266850	48266850	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs760527518	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	89	0	ENST00000302329.3:c.195C>A	p.Tyr65Ter	p.Y65*	ENST00000302329	NM_001004727.1	65	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS31486.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTACTCCTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF96,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000307751	.	1/1	.	.	.	.	.	.	.	.	rs760527518	1/1	PASS	ENST00000302329	Transcript	.	.	ENSG00000172208	15184	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4X2_HUMAN	OR4X2	HGNC	.	.	UPI0000041BE3	SNV	OR4X2,stop_gained,p.Tyr65Ter,ENST00000302329,;	243	90	107	SUCCESS
OR9Q2	219957	.	GRCh37	11	57958693	57958693	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	105	0	ENST00000311591.3:c.731A>G	p.His244Arg	p.H244R	ENST00000311591	NM_001005283.2	244	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS31544.1	731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCACCTCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF155,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000308714	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311591	Transcript	.	.	ENSG00000186513	15328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR9Q2_HUMAN	OR9Q2	HGNC	.	.	UPI0000061ECB	SNV	OR9Q2,missense_variant,p.His244Arg,ENST00000311591,;	788	106	107	SUCCESS
SYTL2	54843	.	GRCh37	11	85411633	85411633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	53	0	ENST00000528231.1:c.2278G>T	p.Ala760Ser	p.A760S	ENST00000528231	NM_001162951.1	760	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31651.1	3292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCTGTCT	NONE	.	.	hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024	.	.	ENSP00000346576	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000354566	Transcript	.	.	ENSG00000137501	15585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	tolerated(0.38)	.	SYTL2_HUMAN	SYTL2	HGNC	Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN	.	UPI0000352C78	SNV	SYTL2,missense_variant,p.Ala736Ser,ENST00000524452,;SYTL2,missense_variant,p.Ala761Ser,ENST00000316356,;SYTL2,missense_variant,p.Ala1098Ser,ENST00000354566,;SYTL2,missense_variant,p.Ala736Ser,ENST00000389960,;SYTL2,missense_variant,p.Ala477Ser,ENST00000530351,;SYTL2,missense_variant,p.Ala760Ser,ENST00000528231,;SYTL2,missense_variant,p.Ala1606Ser,ENST00000359152,;SYTL2,missense_variant,p.Ala728Ser,ENST00000527523,;SYTL2,missense_variant,p.Ala1082Ser,ENST00000525423,;SYTL2,missense_variant,p.Ala202Ser,ENST00000529581,;SYTL2,missense_variant,p.Ala162Ser,ENST00000533892,;SYTL2,missense_variant,p.Ala202Ser,ENST00000525702,;SYTL2,missense_variant,p.Ala191Ser,ENST00000389958,;SYTL2,downstream_gene_variant,,ENST00000529534,;SYTL2,downstream_gene_variant,,ENST00000527794,;SYTL2,downstream_gene_variant,,ENST00000533057,;SYTL2,3_prime_UTR_variant,,ENST00000532995,;SYTL2,3_prime_UTR_variant,,ENST00000389959,;SYTL2,non_coding_transcript_exon_variant,,ENST00000531496,;SYTL2,non_coding_transcript_exon_variant,,ENST00000529662,;SYTL2,upstream_gene_variant,,ENST00000525692,;	3304	53	65	SUCCESS
SRSF8	10929	.	GRCh37	11	94800454	94800454	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	48	173	0	ENST00000529911.1:c.64A>T	p.Thr22Ser	p.T22S	ENST00000529911	NM_032102.3	22	Acc/Tcc	0	.	.	.	.	.	T	T/S	polymorphic_pseudogene	YES	.	64	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGACCTAC	NONE	.	.	.	.	.	ENSP00000475842	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529911	Transcript	.	.	ENSG00000271885	16988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.316)	.	tolerated_low_confidence(0.24)	.	.	SRSF8	Clone_based_vega_gene	.	.	.	SNV	SRSF8,missense_variant,p.Thr22Ser,ENST00000529911,;SRSF8,non_coding_transcript_exon_variant,,ENST00000446101,;	94	173	216	SUCCESS
B3GNT4	79369	.	GRCh37	12	122691554	122691554	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	54	0	ENST00000324189.4:c.756C>T	p.Pro252=	p.P252=	ENST00000324189	NM_030765.2	252	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9227.1	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCAACAG	NONE	.	.	hmmpanther:PTHR11214:SF27,hmmpanther:PTHR11214,Pfam_domain:PF01762	.	.	ENSP00000319636	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000324189	Transcript	.	.	ENSG00000176383	15683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GN4_HUMAN	B3GNT4	HGNC	.	.	UPI0000051E30	SNV	B3GNT4,synonymous_variant,p.%3D,ENST00000535274,;B3GNT4,synonymous_variant,p.%3D,ENST00000546192,;B3GNT4,synonymous_variant,p.%3D,ENST00000324189,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000353548,;DIABLO,downstream_gene_variant,,ENST00000464942,;DIABLO,downstream_gene_variant,,ENST00000413918,;DIABLO,downstream_gene_variant,,ENST00000541273,;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000267169,;LRRC43,downstream_gene_variant,,ENST00000425921,;LRRC43,downstream_gene_variant,,ENST00000339777,;DIABLO,downstream_gene_variant,,ENST00000443649,;B3GNT4,non_coding_transcript_exon_variant,,ENST00000538257,;B3GNT4,non_coding_transcript_exon_variant,,ENST00000537991,;B3GNT4,intron_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000537733,;DIABLO,downstream_gene_variant,,ENST00000342392,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;	1112	54	50	SUCCESS
GPR19	2842	.	GRCh37	12	12815252	12815252	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	41	149	0	ENST00000332427.2:c.131G>A	p.Ser44Asn	p.S44N	ENST00000332427	NM_006143.2	44	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS8652.1	131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACTTAAT	NONE	.	.	hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF188	.	.	ENSP00000441832	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000540510	Transcript	.	.	ENSG00000183150	4473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.55)	.	GPR19_HUMAN	GPR19	HGNC	F5GWU2_HUMAN	.	UPI000013CAB3	SNV	GPR19,missense_variant,p.Ser44Asn,ENST00000332427,;GPR19,missense_variant,p.Ser44Asn,ENST00000540796,;GPR19,missense_variant,p.Ser44Asn,ENST00000540510,;	324	149	136	SUCCESS
ATF7IP	55729	.	GRCh37	12	14613680	14613680	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	96	0	ENST00000261168.4:c.2410A>T	p.Thr804Ser	p.T804S	ENST00000261168	NM_018179.3	804	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS8663.1	2410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGACTTTG	BUFFER|p.V806V|c.2418G>A|3	.	.	hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210	.	.	ENSP00000261168	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,missense_variant,p.Thr804Ser,ENST00000261168,;ATF7IP,missense_variant,p.Thr804Ser,ENST00000540793,;ATF7IP,missense_variant,p.Thr803Ser,ENST00000543189,;ATF7IP,missense_variant,p.Thr812Ser,ENST00000544627,;ATF7IP,missense_variant,p.Thr803Ser,ENST00000536444,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,downstream_gene_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	2563	96	93	SUCCESS
PTPRO	5800	.	GRCh37	12	15747937	15747937	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	54	0	ENST00000281171.4:c.3613A>T	p.Ile1205Phe	p.I1205F	ENST00000281171	NM_030667.2	1205	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS8675.1	3613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCATCAGT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251	.	.	ENSP00000281171	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000281171	Transcript	.	.	ENSG00000151490	9678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.622)	.	deleterious(0.05)	.	PTPRO_HUMAN	PTPRO	HGNC	B4DS16_HUMAN	.	UPI000013DC62	SNV	PTPRO,missense_variant,p.Ile1177Phe,ENST00000348962,;PTPRO,missense_variant,p.Ile1205Phe,ENST00000281171,;PTPRO,missense_variant,p.Ile366Phe,ENST00000544244,;PTPRO,missense_variant,p.Ile394Phe,ENST00000445537,;PTPRO,missense_variant,p.Ile366Phe,ENST00000542557,;PTPRO,missense_variant,p.Ile394Phe,ENST00000442921,;PTPRO,upstream_gene_variant,,ENST00000544706,;	3943	54	36	SUCCESS
CSAD	51380	.	GRCh37	12	53565528	53565528	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	16	0	ENST00000444623.1:c.451+138G>A		p.*151*	ENST00000444623	NM_001244705.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8848.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCCCTGG	NONE	.	.	.	.	.	ENSP00000267085	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267085	Transcript	.	.	ENSG00000139631	18966	.	.	MODIFIER	7/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSAD_HUMAN	CSAD	HGNC	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN	.	UPI0000E59693	SNV	CSAD,3_prime_UTR_variant,,ENST00000542115,;CSAD,intron_variant,,ENST00000444623,;CSAD,intron_variant,,ENST00000437073,;CSAD,intron_variant,,ENST00000379846,;CSAD,intron_variant,,ENST00000453446,;CSAD,intron_variant,,ENST00000267085,;CSAD,intron_variant,,ENST00000379843,;CSAD,intron_variant,,ENST00000379850,;CSAD,intron_variant,,ENST00000548698,;CSAD,downstream_gene_variant,,ENST00000498635,;CSAD,downstream_gene_variant,,ENST00000424990,;CSAD,non_coding_transcript_exon_variant,,ENST00000491654,;CSAD,intron_variant,,ENST00000454442,;CSAD,intron_variant,,ENST00000424845,;CSAD,intron_variant,,ENST00000475890,;CSAD,intron_variant,,ENST00000483632,;CSAD,upstream_gene_variant,,ENST00000485004,;CSAD,upstream_gene_variant,,ENST00000490923,;CSAD,upstream_gene_variant,,ENST00000490589,;CSAD,upstream_gene_variant,,ENST00000472908,;CSAD,downstream_gene_variant,,ENST00000461392,;	.	16	19	SUCCESS
PPFIA2	8499	.	GRCh37	12	81719606	81719606	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	46	0	ENST00000549396.1:c.2592G>T	p.Gly864=	p.G864=	ENST00000549396	NM_003625.3	864	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55857.1	2592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAACCCCAG	NONE	.	.	hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,synonymous_variant,p.%3D,ENST00000551147,;PPFIA2,synonymous_variant,p.%3D,ENST00000333447,;PPFIA2,synonymous_variant,p.%3D,ENST00000407050,;PPFIA2,synonymous_variant,p.%3D,ENST00000541570,;PPFIA2,synonymous_variant,p.%3D,ENST00000443686,;PPFIA2,synonymous_variant,p.%3D,ENST00000550359,;PPFIA2,synonymous_variant,p.%3D,ENST00000548586,;PPFIA2,synonymous_variant,p.%3D,ENST00000549396,;PPFIA2,synonymous_variant,p.%3D,ENST00000549325,;PPFIA2,synonymous_variant,p.%3D,ENST00000541017,;PPFIA2,synonymous_variant,p.%3D,ENST00000550584,;PPFIA2,synonymous_variant,p.%3D,ENST00000552948,;PPFIA2,upstream_gene_variant,,ENST00000550018,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	2753	46	76	SUCCESS
TRPC4	7223	.	GRCh37	13	38357491	38357491	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	41	0	ENST00000379705.3:c.-21A>C		p.*7*	ENST00000379705				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45037.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTTCGTC	NONE	.	.	.	.	.	ENSP00000369003	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000379681	Transcript	.	.	ENSG00000133107	12336	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC4_HUMAN	TRPC4	HGNC	.	.	UPI000006E5BE	SNV	TRPC4,5_prime_UTR_variant,,ENST00000379673,;TRPC4,5_prime_UTR_variant,,ENST00000338947,;TRPC4,5_prime_UTR_variant,,ENST00000379681,;TRPC4,5_prime_UTR_variant,,ENST00000447043,;TRPC4,5_prime_UTR_variant,,ENST00000355779,;TRPC4,5_prime_UTR_variant,,ENST00000358477,;TRPC4,5_prime_UTR_variant,,ENST00000426868,;TRPC4,5_prime_UTR_variant,,ENST00000379705,;TRPC4,upstream_gene_variant,,ENST00000379679,;TRPC4,upstream_gene_variant,,ENST00000488717,;	215	41	35	SUCCESS
UGGT2	55757	.	GRCh37	13	96599334	96599334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	136	229	0	ENST00000376747.3:c.1634C>T	p.Ala545Val	p.A545V	ENST00000376747	NM_020121.3	545	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9480.1	1634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGCAATA	NONE	.	.	hmmpanther:PTHR11226:SF1,hmmpanther:PTHR11226	.	.	ENSP00000365938	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000376747	Transcript	.	.	ENSG00000102595	15664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.23)	.	UGGG2_HUMAN	UGGT2	HGNC	.	.	UPI00001FC9AA	SNV	UGGT2,missense_variant,p.Ala545Val,ENST00000376747,;	1705	229	298	SUCCESS
TEP1	7011	.	GRCh37	14	20841220	20841226	+	frameshift_variant	Frame_Shift_Del	DEL	CTTGATT	CTTGATT	-	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	CTTGATT	CTTGATT	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	49	0	ENST00000262715.5:c.6895_6901del	p.Asn2299LeufsTer4	p.N2299Lfs*4	ENST00000262715	NM_007110.4	2299	AATCAAGct/ct	0	.	.	.	.	.	-	NQA/X	protein_coding	YES	CCDS9548.1	6895-6901	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCAGCTTGATTTCCAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000262715	.	48/55	.	.	.	.	.	.	.	.	.	48/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	deletion	TEP1,frameshift_variant,p.Asn637LeufsTer4,ENST00000545983,;TEP1,frameshift_variant,p.Asn2191LeufsTer4,ENST00000556935,;TEP1,frameshift_variant,p.Asn2299LeufsTer4,ENST00000262715,;TEP1,frameshift_variant,p.Asn6LeufsTer4,ENST00000553984,;TEP1,frameshift_variant,p.Asn12LeufsTer4,ENST00000553365,;TEP1,frameshift_variant,p.Asn1642LeufsTer4,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,downstream_gene_variant,,ENST00000471684,;TEP1,downstream_gene_variant,,ENST00000556488,;	6936-6942	49	72	SUCCESS
AKAP6	9472	.	GRCh37	14	33293348	33293348	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	43	95	0	ENST00000280979.4:c.6329A>T	p.Tyr2110Phe	p.Y2110F	ENST00000280979	NM_004274.4	2110	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS9644.1	6329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTATTCGT	BUFFER|p.S2111L|c.6332C>T|5	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	.	.	ENSP00000280979	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,missense_variant,p.Tyr2110Phe,ENST00000280979,;AKAP6,intron_variant,,ENST00000557272,;	6499	95	122	SUCCESS
FERMT2	10979	.	GRCh37	14	53345391	53345391	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	38	53	0	ENST00000341590.3:c.872T>G	p.Ile291Ser	p.I291S	ENST00000341590	NM_006832.2	291	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS45107.1	872	RADIA|MUTECT|MUSE	.	GATTGATTCTG	NONE	.	.	Superfamily_domains:SSF47031,SMART_domains:SM00295,Pfam_domain:PF00373,Gene3D:1.20.80.10,hmmpanther:PTHR16160:SF11,hmmpanther:PTHR16160	.	.	ENSP00000342858	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000343279	Transcript	.	.	ENSG00000073712	15767	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.637)	.	deleterious(0)	.	FERM2_HUMAN	FERMT2	HGNC	G3V3J0_HUMAN,G3V281_HUMAN	.	UPI00015DFD70	SNV	FERMT2,missense_variant,p.Ile291Ser,ENST00000399304,;FERMT2,missense_variant,p.Ile291Ser,ENST00000553373,;FERMT2,missense_variant,p.Ile244Ser,ENST00000554152,;FERMT2,missense_variant,p.Ile291Ser,ENST00000343279,;FERMT2,missense_variant,p.Ile291Ser,ENST00000341590,;FERMT2,missense_variant,p.Ile291Ser,ENST00000395631,;FERMT2,downstream_gene_variant,,ENST00000554288,;FERMT2,upstream_gene_variant,,ENST00000553768,;	1058	53	77	SUCCESS
ADAM20	8748	.	GRCh37	14	70990870	70990870	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763688691	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	53	93	0	ENST00000256389.3:c.755G>C	p.Trp252Ser	p.W252S	ENST00000256389	NM_003814.4	252	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS32111.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCAGCCC	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF133,Gene3D:3.40.390.10	.	.	ENSP00000256389	.	2/2	.	.	.	.	.	.	.	.	rs763688691	2/2	PASS	ENST00000256389	Transcript	.	.	ENSG00000134007	199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	ADA20_HUMAN	ADAM20	HGNC	.	.	UPI0000183495	SNV	ADAM20,missense_variant,p.Trp252Ser,ENST00000256389,;RP11-486O13.4,intron_variant,,ENST00000556646,;	1000	93	119	SUCCESS
CEP128	145508	.	GRCh37	14	81251871	81251871	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	67	0	ENST00000281129.3:c.1579G>T	p.Glu527Ter	p.E527*	ENST00000281129	NM_152446.3	527	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32130.1	1579	RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCATCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	.	.	ENSP00000451162	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000555265	Transcript	.	.	ENSG00000100629	20359	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE128_HUMAN	CEP128	HGNC	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN	.	UPI000022982E	SNV	CEP128,stop_gained,p.Glu527Ter,ENST00000555265,;CEP128,stop_gained,p.Glu527Ter,ENST00000281129,;CEP128,stop_gained,p.Glu219Ter,ENST00000554502,;	1955	67	107	SUCCESS
APBA2	321	.	GRCh37	15	29346197	29346197	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746831479	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	29	139	1	ENST00000558259.1:c.110C>T	p.Pro37Leu	p.P37L	ENST00000558259	NM_005503.3	37	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS10022.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCTTGG	NONE	byFrequency	.	hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12	.	.	ENSP00000453293	.	5/16	.	.	.	.	.	.	.	.	rs746831479	5/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	deleterious_low_confidence(0)	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,missense_variant,p.Pro37Leu,ENST00000558259,;APBA2,missense_variant,p.Pro37Leu,ENST00000561069,;APBA2,missense_variant,p.Pro37Leu,ENST00000560283,;APBA2,missense_variant,p.Pro37Leu,ENST00000558402,;APBA2,missense_variant,p.Pro37Leu,ENST00000558330,;APBA2,missense_variant,p.Pro37Leu,ENST00000558358,;APBA2,missense_variant,p.Pro37Leu,ENST00000558804,;APBA2,missense_variant,p.Pro37Leu,ENST00000411764,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	709	140	159	SUCCESS
FMN1	342184	.	GRCh37	15	33256458	33256458	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	27	88	0	ENST00000559047.1:c.2988C>A	p.Ser996Arg	p.S996R	ENST00000559047	NM_001277313.1	996	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS45209.1	2319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGCTTAA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000333950	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	tolerated(0.58)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.Ser996Arg,ENST00000559047,;FMN1,missense_variant,p.Ser898Arg,ENST00000561249,;FMN1,missense_variant,p.Ser773Arg,ENST00000334528,;	2319	88	125	SUCCESS
RFX7	64864	.	GRCh37	15	56385627	56385627	+	synonymous_variant	Silent	SNP	G	G	A	rs768475607	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	59	0	ENST00000559447.2:c.4008C>T	p.Cys1336=	p.C1336=	ENST00000559447		1336	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	.	4299	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGCAAAT	NONE	.	.	.	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	rs768475607,COSM3932119,COSM3932118	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,synonymous_variant,p.%3D,ENST00000423270,;RFX7,synonymous_variant,p.%3D,ENST00000559447,;RFX7,intron_variant,,ENST00000317318,;RFX7,intron_variant,,ENST00000422057,;RFX7,intron_variant,,ENST00000559847,;	4299	59	65	SUCCESS
APH1B	83464	.	GRCh37	15	63571387	63571387	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	97	0	ENST00000261879.5:c.141G>A	p.Leu47=	p.L47=	ENST00000261879	NM_031301.3	47	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10184.1	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGATTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12889,hmmpanther:PTHR12889:SF1,Pfam_domain:PF06105	.	.	ENSP00000261879	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000261879	Transcript	.	.	ENSG00000138613	24080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APH1B_HUMAN	APH1B	HGNC	H0YKZ9_HUMAN	.	UPI000004222D	SNV	APH1B,synonymous_variant,p.%3D,ENST00000380343,;APH1B,synonymous_variant,p.%3D,ENST00000560353,;APH1B,synonymous_variant,p.%3D,ENST00000261879,;APH1B,5_prime_UTR_variant,,ENST00000560890,;APH1B,downstream_gene_variant,,ENST00000559744,;APH1B,missense_variant,p.Asp69Asn,ENST00000380340,;APH1B,3_prime_UTR_variant,,ENST00000559971,;	211	97	97	SUCCESS
UBE2Q2	92912	.	GRCh37	15	76191767	76191767	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	38	0	ENST00000267938.4:c.1097-1G>A		p.X366_splice	ENST00000267938	NM_173469.2	366		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10286.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGGCTGG	NONE	.	.	.	.	.	ENSP00000267938	.	.	.	.	.	.	.	.	.	.	COSM349101	.	PASS	ENST00000267938	Transcript	.	.	ENSG00000140367	19248	.	.	HIGH	12/12	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UB2Q2_HUMAN	UBE2Q2	HGNC	B4DFQ2_HUMAN	.	UPI0000073AF9	SNV	UBE2Q2,splice_acceptor_variant,,ENST00000338677,;UBE2Q2,splice_acceptor_variant,,ENST00000569423,;UBE2Q2,splice_acceptor_variant,,ENST00000561851,;UBE2Q2,splice_acceptor_variant,,ENST00000426727,;UBE2Q2,splice_acceptor_variant,,ENST00000267938,;FBXO22,upstream_gene_variant,,ENST00000308275,;FBXO22,upstream_gene_variant,,ENST00000540507,;FBXO22,upstream_gene_variant,,ENST00000569054,;FBXO22,upstream_gene_variant,,ENST00000453211,;FBXO22,upstream_gene_variant,,ENST00000565036,;RN7SL510P,downstream_gene_variant,,ENST00000581311,;UBE2Q2,downstream_gene_variant,,ENST00000563966,;FBXO22,upstream_gene_variant,,ENST00000565131,;UBE2Q2,splice_acceptor_variant,,ENST00000567921,;UBE2Q2,splice_acceptor_variant,,ENST00000561723,;FBXO22,upstream_gene_variant,,ENST00000569022,;FBXO22,upstream_gene_variant,,ENST00000569749,;	.	38	14	SUCCESS
GTF3C1	2975	.	GRCh37	16	27549677	27549677	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	79	0	ENST00000356183.4:c.432G>T	p.Arg144Ser	p.R144S	ENST00000356183	NM_001520.3	144	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS32414.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACCTGCA	NONE	.	.	hmmpanther:PTHR15180	.	.	ENSP00000348510	.	3/37	.	.	.	.	.	.	.	.	.	3/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious(0.03)	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,missense_variant,p.Arg144Ser,ENST00000561623,;GTF3C1,missense_variant,p.Arg144Ser,ENST00000356183,;	448	79	45	SUCCESS
ALDOC	230	.	GRCh37	17	26900924	26900924	+	synonymous_variant	Silent	SNP	G	G	A	rs369962449	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	79	0	ENST00000226253.4:c.828C>T	p.Ser276=	p.S276=	ENST00000226253	NM_005165.2	276	agC/agT	0	A:0.0002	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS11236.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGCTCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF3,Pfam_domain:PF00274,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	A:0	A:0	ENSP00000226253	A:0	8/9	.	.	.	.	.	.	.	.	rs369962449	8/9	PASS	ENST00000226253	Transcript	.	A:0.0002	ENSG00000109107	418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	ALDOC_HUMAN	ALDOC	HGNC	K7EKH5_HUMAN,J3QKP5_HUMAN,J3QKK1_HUMAN,J3KSV6_HUMAN,C9J8F3_HUMAN,B7Z1N6_HUMAN	.	UPI0000000C53	SNV	ALDOC,synonymous_variant,p.%3D,ENST00000226253,;ALDOC,synonymous_variant,p.%3D,ENST00000395319,;ALDOC,synonymous_variant,p.%3D,ENST00000395321,;PIGS,upstream_gene_variant,,ENST00000395346,;ALDOC,downstream_gene_variant,,ENST00000581807,;SPAG5,downstream_gene_variant,,ENST00000321765,;PIGS,upstream_gene_variant,,ENST00000308360,;ALDOC,downstream_gene_variant,,ENST00000578590,;PIGS,upstream_gene_variant,,ENST00000543734,;ALDOC,downstream_gene_variant,,ENST00000460201,;SPAG5,downstream_gene_variant,,ENST00000582076,;ALDOC,downstream_gene_variant,,ENST00000584086,;ALDOC,downstream_gene_variant,,ENST00000435638,;RP11-192H23.5,intron_variant,,ENST00000585189,;PIGS,upstream_gene_variant,,ENST00000584413,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,downstream_gene_variant,,ENST00000581133,;SPAG5,downstream_gene_variant,,ENST00000582175,;PIGS,upstream_gene_variant,,ENST00000584080,;SPAG5,downstream_gene_variant,,ENST00000580676,;PIGS,upstream_gene_variant,,ENST00000268758,;PIGS,upstream_gene_variant,,ENST00000582721,;PIGS,upstream_gene_variant,,ENST00000577594,;SPAG5,downstream_gene_variant,,ENST00000580377,;ALDOC,downstream_gene_variant,,ENST00000582381,;PIGS,upstream_gene_variant,,ENST00000583631,;	1304	79	81	SUCCESS
CPD	1362	.	GRCh37	17	28758889	28758889	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199780759	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	84	0	ENST00000225719.4:c.2117C>T	p.Ser706Phe	p.S706F	ENST00000225719	NM_001304.4	706	tCt/tTt	0	G:0	.	.	.	.	T	S/F	protein_coding	YES	CCDS11257.1	2117	MUTECT|MUSE	.	ACTTTCTTATT	NONE	byCluster	.	hmmpanther:PTHR11532:SF40,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	G:0.0001	ENSP00000225719	.	8/21	.	.	.	.	.	.	.	.	rs199780759	8/21	PASS	ENST00000225719	Transcript	.	.	ENSG00000108582	2301	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	CBPD_HUMAN	CPD	HGNC	.	.	UPI000000DAF7	SNV	CPD,missense_variant,p.Ser459Phe,ENST00000543464,;CPD,missense_variant,p.Ser706Phe,ENST00000225719,;	2193	84	54	SUCCESS
ACACA	31	.	GRCh37	17	35454834	35454840	+	frameshift_variant	Frame_Shift_Del	DEL	ATGGTAA	ATGGTAA	-	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	ATGGTAA	ATGGTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	101	21	115	0	ENST00000353139.5:c.6645_6651del	p.Tyr2216ArgfsTer2	p.Y2216Rfs*2	ENST00000353139	NM_198834.1	2215	atTTACCAT/at	0	.	.	.	.	.	-	IYH/X	protein_coding	YES	CCDS42302.1	6645-6651	INDELOCATOR*|VARSCANI*|PINDEL	.	TACCTGATGGTAAATGGG	NONE	.	.	PROSITE_profiles:PS50989,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Gene3D:3.90.226.10,Pfam_domain:PF01039,Superfamily_domains:SSF52096	.	.	ENSP00000344789	.	53/56	.	.	.	.	.	.	.	.	.	53/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	deletion	ACACA,frameshift_variant,p.Tyr831ArgfsTer2,ENST00000591119,;ACACA,frameshift_variant,p.Tyr2121ArgfsTer2,ENST00000360679,;ACACA,frameshift_variant,p.Tyr2216ArgfsTer2,ENST00000353139,;ACACA,frameshift_variant,p.Tyr2179ArgfsTer2,ENST00000394406,;ACACA,frameshift_variant,p.Tyr2101ArgfsTer2,ENST00000335166,;ACACA,frameshift_variant,p.Tyr305ArgfsTer2,ENST00000361253,;ACACA,3_prime_UTR_variant,,ENST00000587233,;ACACA,non_coding_transcript_exon_variant,,ENST00000593055,;	7127-7133	115	122	SUCCESS
CXCL16	58191	.	GRCh37	17	4642833	4642833	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	11	0	ENST00000293778.6:c.-142G>T		p.*48*	ENST00000293778	NM_022059.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11052.1	.	RADIA|MUTECT|MUSE	.	CCGCGCCATGC	NONE	.	.	.	.	.	ENSP00000293778	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000293778	Transcript	.	.	ENSG00000161921	16642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXL16_HUMAN	CXCL16	HGNC	I3L333_HUMAN	.	UPI000013E11E	SNV	CXCL16,5_prime_UTR_variant,,ENST00000574412,;CXCL16,5_prime_UTR_variant,,ENST00000293778,;ZMYND15,upstream_gene_variant,,ENST00000269289,;ZMYND15,upstream_gene_variant,,ENST00000433935,;ZMYND15,upstream_gene_variant,,ENST00000592813,;CXCL16,upstream_gene_variant,,ENST00000573123,;ZMYND15,upstream_gene_variant,,ENST00000573751,;CXCL16,upstream_gene_variant,,ENST00000576153,;ZMYND15,upstream_gene_variant,,ENST00000571782,;CXCL16,upstream_gene_variant,,ENST00000575168,;ZMYND15,upstream_gene_variant,,ENST00000574829,;	282	11	12	SUCCESS
TRIM37	4591	.	GRCh37	17	57181690	57181690	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	251	233	1	ENST00000262294.7:c.87T>A	p.Pro29=	p.P29=	ENST00000262294	NM_015294.3	29	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32694.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGAGGACA	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF229,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000262294	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000262294	Transcript	.	.	ENSG00000108395	7523	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI37_HUMAN	TRIM37	HGNC	B3KMU3_HUMAN,A8K0V9_HUMAN	.	UPI0000167B57	SNV	TRIM37,synonymous_variant,p.%3D,ENST00000393066,;TRIM37,synonymous_variant,p.%3D,ENST00000262294,;TRIM37,synonymous_variant,p.%3D,ENST00000584889,;TRIM37,5_prime_UTR_variant,,ENST00000376149,;TRIM37,intron_variant,,ENST00000393065,;AC099850.1,upstream_gene_variant,,ENST00000451775,;TRIM37,synonymous_variant,p.%3D,ENST00000580973,;TRIM37,synonymous_variant,p.%3D,ENST00000580122,;TRIM37,synonymous_variant,p.%3D,ENST00000577554,;TRIM37,non_coding_transcript_exon_variant,,ENST00000580620,;TRIM37,non_coding_transcript_exon_variant,,ENST00000583387,;	347	234	501	SUCCESS
MED13	9969	.	GRCh37	17	60045496	60045496	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	418	58	245	1	ENST00000397786.2:c.4091G>T	p.Gly1364Val	p.G1364V	ENST00000397786	NM_005121.2	1364	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42366.1	4091	RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCCATAG	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950	.	.	ENSP00000380888	.	18/30	.	.	.	.	.	.	.	.	COSM162435	18/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.989)	.	deleterious(0)	1	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Gly1364Val,ENST00000397786,;	4168	246	476	SUCCESS
RNF157	114804	.	GRCh37	17	74151751	74151751	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	61	101	0	ENST00000269391.6:c.1590C>T	p.Asp530=	p.D530=	ENST00000269391	NM_052916.2	530	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS32740.1	1590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTGTCAGT	NONE	.	.	hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996	.	.	ENSP00000269391	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000269391	Transcript	.	.	ENSG00000141576	29402	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN157_HUMAN	RNF157	HGNC	.	.	UPI00001C1FDD	SNV	RNF157,synonymous_variant,p.%3D,ENST00000591355,;RNF157,synonymous_variant,p.%3D,ENST00000269391,;RNF157,synonymous_variant,p.%3D,ENST00000319945,;RNF157-AS1,downstream_gene_variant,,ENST00000592748,;RNF157-AS1,downstream_gene_variant,,ENST00000585542,;RNF157-AS1,downstream_gene_variant,,ENST00000590137,;RNF157-AS1,downstream_gene_variant,,ENST00000586661,;RNF157-AS1,downstream_gene_variant,,ENST00000586627,;RNF157,non_coding_transcript_exon_variant,,ENST00000592869,;RNF157,upstream_gene_variant,,ENST00000589317,;	1723	101	200	SUCCESS
ENTHD2	0	.	GRCh37	17	79212575	79212575	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	23	0	ENST00000300714.3:c.48+211C>G		p.*16*	ENST00000300714	NM_144679.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11779.1	.	MUTECT|MUSE	.	CGCTCGGCGGG	NONE	.	.	.	.	.	ENSP00000300714	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300714	Transcript	.	.	ENSG00000167302	26458	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AP4AT_HUMAN	ENTHD2	HGNC	.	.	UPI0000071221	SNV	ENTHD2,intron_variant,,ENST00000374769,;ENTHD2,intron_variant,,ENST00000300714,;ENTHD2,upstream_gene_variant,,ENST00000571094,;C17orf89,upstream_gene_variant,,ENST00000431388,;C17orf89,upstream_gene_variant,,ENST00000576002,;AC027601.1,downstream_gene_variant,,ENST00000575922,;ENTHD2,non_coding_transcript_exon_variant,,ENST00000575961,;ENTHD2,non_coding_transcript_exon_variant,,ENST00000575891,;C17orf89,upstream_gene_variant,,ENST00000573173,;C17orf89,upstream_gene_variant,,ENST00000575067,;ENTHD2,missense_variant,p.Arg87Gly,ENST00000570854,;ENTHD2,synonymous_variant,p.%3D,ENST00000572050,;ENTHD2,non_coding_transcript_exon_variant,,ENST00000571601,;ENTHD2,intron_variant,,ENST00000573295,;ENTHD2,upstream_gene_variant,,ENST00000576090,;C17orf89,upstream_gene_variant,,ENST00000577158,;ENTHD2,upstream_gene_variant,,ENST00000574944,;ENTHD2,upstream_gene_variant,,ENST00000574517,;C17orf89,upstream_gene_variant,,ENST00000573090,;	.	23	19	SUCCESS
ZNF521	25925	.	GRCh37	18	22775123	22775123	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	26	0	ENST00000361524.3:c.3658+1G>T		p.X1220_splice	ENST00000361524	NM_015461.2	1220		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32806.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACCAATC	NONE	.	.	.	.	.	ENSP00000354794	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	HIGH	5/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,splice_donor_variant,,ENST00000577775,;ZNF521,splice_donor_variant,,ENST00000538137,;ZNF521,splice_donor_variant,,ENST00000584787,;ZNF521,splice_donor_variant,,ENST00000361524,;ZNF521,splice_donor_variant,,ENST00000399425,;	.	26	41	SUCCESS
MYO5B	4645	.	GRCh37	18	47566657	47566657	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765665080	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	32	178	0	ENST00000285039.7:c.166C>T	p.Arg56Cys	p.R56C	ENST00000285039	NM_001080467.2	56	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42436.1	166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCGTTGTA	NONE	byFrequency	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,Superfamily_domains:SSF52540	.	.	ENSP00000285039	.	3/40	.	.	.	.	.	.	.	.	rs765665080,COSM3970575	3/40	PASS	ENST00000285039	Transcript	.	.	ENSG00000167306	7603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.008)	.	deleterious(0.04)	0,1	MYO5B_HUMAN	MYO5B	HGNC	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN	.	UPI00001D7B21	SNV	MYO5B,missense_variant,p.Arg56Cys,ENST00000285039,;MYO5B,non_coding_transcript_exon_variant,,ENST00000586036,;	466	178	129	SUCCESS
DDX49	54555	.	GRCh37	19	19032527	19032527	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	112	0	ENST00000247003.4:c.295C>A	p.Leu99Met	p.L99M	ENST00000247003	NM_019070.4	99	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS12390.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCTGAAA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF145,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000247003	.	3/13	.	.	.	.	.	.	.	.	COSM3530908	3/13	PASS	ENST00000247003	Transcript	.	.	ENSG00000105671	18684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.955)	.	deleterious(0.04)	1	DDX49_HUMAN	DDX49	HGNC	.	.	UPI000006E7E7	SNV	DDX49,missense_variant,p.Leu99Met,ENST00000247003,;DDX49,5_prime_UTR_variant,,ENST00000438170,;COPE,upstream_gene_variant,,ENST00000351079,;COPE,upstream_gene_variant,,ENST00000349893,;COPE,upstream_gene_variant,,ENST00000600932,;COPE,upstream_gene_variant,,ENST00000262812,;DDX49,upstream_gene_variant,,ENST00000601772,;COPE,upstream_gene_variant,,ENST00000599964,;DDX49,upstream_gene_variant,,ENST00000599156,;COPE,upstream_gene_variant,,ENST00000597646,;DDX49,missense_variant,p.Ala124Asp,ENST00000595858,;DDX49,3_prime_UTR_variant,,ENST00000593361,;DDX49,3_prime_UTR_variant,,ENST00000594021,;DDX49,3_prime_UTR_variant,,ENST00000602113,;DDX49,non_coding_transcript_exon_variant,,ENST00000599981,;DDX49,non_coding_transcript_exon_variant,,ENST00000599373,;DDX49,intron_variant,,ENST00000598972,;AC002985.3,intron_variant,,ENST00000596918,;AC002985.3,intron_variant,,ENST00000593484,;DDX49,upstream_gene_variant,,ENST00000598277,;DDX49,upstream_gene_variant,,ENST00000601803,;COPE,upstream_gene_variant,,ENST00000593827,;	362	112	80	SUCCESS
MKNK2	2872	.	GRCh37	19	2042789	2042789	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1339923062	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	40	0	ENST00000250896.3:c.574G>A	p.Ala192Thr	p.A192T	ENST00000250896	NM_199054.2	192	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12080.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCGCTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000250896	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000250896	Transcript	.	.	ENSG00000099875	7111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	MKNK2_HUMAN	MKNK2	HGNC	K7EIN7_HUMAN,B4DEQ4_HUMAN,B3KS07_HUMAN,A4CYL7_HUMAN	.	UPI000006E9B4	SNV	MKNK2,missense_variant,p.Ala61Thr,ENST00000541165,;MKNK2,missense_variant,p.Ala192Thr,ENST00000591601,;MKNK2,missense_variant,p.Ala192Thr,ENST00000309340,;MKNK2,missense_variant,p.Ala192Thr,ENST00000250896,;MKNK2,upstream_gene_variant,,ENST00000589441,;MKNK2,downstream_gene_variant,,ENST00000589534,;MKNK2,upstream_gene_variant,,ENST00000591588,;MKNK2,upstream_gene_variant,,ENST00000588014,;MKNK2,upstream_gene_variant,,ENST00000591142,;MKNK2,downstream_gene_variant,,ENST00000589509,;MKNK2,3_prime_UTR_variant,,ENST00000586828,;MKNK2,non_coding_transcript_exon_variant,,ENST00000588346,;MKNK2,non_coding_transcript_exon_variant,,ENST00000585667,;MKNK2,upstream_gene_variant,,ENST00000587416,;MKNK2,upstream_gene_variant,,ENST00000586620,;	819	40	39	SUCCESS
GNA15	2769	.	GRCh37	19	3151715	3151715	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	142	2	ENST00000262958.3:c.496C>A	p.His166Asn	p.H166N	ENST00000262958	NM_002068.2	166	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS12104.1	496	RADIA|VARSCANS	.	TGTCCCACCTG	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF50,Pfam_domain:PF00503,Gene3D:1.10.400.10,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000262958	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000262958	Transcript	.	.	ENSG00000060558	4383	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.44)	.	GNA15_HUMAN	GNA15	HGNC	.	.	UPI000013D36D	SNV	GNA15,missense_variant,p.His166Asn,ENST00000262958,;AC005264.2,intron_variant,,ENST00000587587,;GNA15,3_prime_UTR_variant,,ENST00000592455,;GNA15,non_coding_transcript_exon_variant,,ENST00000586082,;	754	145	101	SUCCESS
CIC	23152	.	GRCh37	19	42797243	42797243	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	132	0	ENST00000575354.2:c.3605C>T	p.Pro1202Leu	p.P1202L	ENST00000575354	NM_015125.3	1202	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12601.1	3605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCTGCAC	NONE	.	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059,Prints_domain:PR01217	.	.	ENSP00000458663	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,missense_variant,p.Pro1202Leu,ENST00000575354,;CIC,missense_variant,p.Pro2109Leu,ENST00000572681,;CIC,missense_variant,p.Pro1200Leu,ENST00000160740,;PAFAH1B3,downstream_gene_variant,,ENST00000262890,;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;	3645	132	100	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51960468	51960468	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	57	0	ENST00000321424.3:c.751A>G	p.Thr251Ala	p.T251A	ENST00000321424	NM_014442.2	251	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33086.1	751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTCAAGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36	.	.	ENSP00000321077	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.376)	.	tolerated(0.22)	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,missense_variant,p.Thr158Ala,ENST00000340550,;SIGLEC8,missense_variant,p.Thr251Ala,ENST00000321424,;SIGLEC8,intron_variant,,ENST00000430817,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	818	57	41	SUCCESS
DNAAF3	352909	.	GRCh37	19	55670499	55670499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	117	0	ENST00000524407.2:c.1557G>T	p.Glu519Asp	p.E519D	ENST00000524407		519	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS58680.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCTCTGA	NONE	.	.	.	.	.	ENSP00000436975	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000527223	Transcript	1	.	ENSG00000167646	30492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.477)	.	deleterious_low_confidence(0.01)	.	DAAF3_HUMAN	DNAAF3	HGNC	H0YD30_HUMAN,H0YCU4_HUMAN	.	UPI000013E6F1	SNV	DNAAF3,missense_variant,p.Glu566Asp,ENST00000391720,;DNAAF3,missense_variant,p.Glu519Asp,ENST00000524407,;DNAAF3,missense_variant,p.Glu465Asp,ENST00000455045,;DNAAF3,missense_variant,p.Glu186Asp,ENST00000588076,;DNAAF3,missense_variant,p.Glu586Asp,ENST00000527223,;DNAAF3,downstream_gene_variant,,ENST00000534170,;TNNI3,upstream_gene_variant,,ENST00000586858,;TNNI3,upstream_gene_variant,,ENST00000588882,;DNAAF3,downstream_gene_variant,,ENST00000526003,;DNAAF3,downstream_gene_variant,,ENST00000532817,;TNNI3,upstream_gene_variant,,ENST00000344887,;CTD-2587H24.5,non_coding_transcript_exon_variant,,ENST00000591665,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000587789,;TNNI3,upstream_gene_variant,,ENST00000590463,;TNNI3,upstream_gene_variant,,ENST00000586669,;DNAAF3,downstream_gene_variant,,ENST00000527166,;DNAAF3,downstream_gene_variant,,ENST00000527292,;DNAAF3,3_prime_UTR_variant,,ENST00000528412,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000533527,;CTD-2587H24.4,intron_variant,,ENST00000587871,;DNAAF3,downstream_gene_variant,,ENST00000526959,;TNNI3,upstream_gene_variant,,ENST00000586446,;DNAAF3,downstream_gene_variant,,ENST00000534214,;TNNI3,upstream_gene_variant,,ENST00000587176,;TNNI3,upstream_gene_variant,,ENST00000585806,;TNNI3,upstream_gene_variant,,ENST00000589864,;	1760	117	84	SUCCESS
PEG3	5178	.	GRCh37	19	57328390	57328390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	6	140	0	ENST00000326441.9:c.1420C>A	p.His474Asn	p.H474N	ENST00000326441	NM_006210.2	474	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS12948.1	1420	MUTECT|MUSE	.	AGTATGCATGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,missense_variant,p.His474Asn,ENST00000423103,;PEG3,missense_variant,p.His319Asn,ENST00000600833,;PEG3,missense_variant,p.His474Asn,ENST00000599577,;PEG3,missense_variant,p.His474Asn,ENST00000599534,;PEG3,missense_variant,p.His350Asn,ENST00000598410,;PEG3,missense_variant,p.His474Asn,ENST00000326441,;PEG3,missense_variant,p.His348Asn,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	1784	140	136	SUCCESS
HENMT1	113802	.	GRCh37	1	109191343	109191343	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	78	137	0	ENST00000370032.5:c.1027C>T	p.Leu343=	p.L343=	ENST00000370032	NM_144584.2	343	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS787.1	1027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGAGGTA	NONE	.	.	hmmpanther:PTHR21404:SF1,hmmpanther:PTHR21404	.	.	ENSP00000359049	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000370032	Transcript	.	.	ENSG00000162639	26400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HENMT_HUMAN	HENMT1	HGNC	.	.	UPI000013E19C	SNV	HENMT1,synonymous_variant,p.%3D,ENST00000370031,;HENMT1,synonymous_variant,p.%3D,ENST00000370032,;HENMT1,synonymous_variant,p.%3D,ENST00000402983,;FAM102B,downstream_gene_variant,,ENST00000405454,;HENMT1,downstream_gene_variant,,ENST00000420055,;HENMT1,downstream_gene_variant,,ENST00000483729,;HENMT1,downstream_gene_variant,,ENST00000493676,;	1448	137	166	SUCCESS
PRAMEF2	65122	.	GRCh37	1	12919905	12919905	+	synonymous_variant	Silent	SNP	G	G	T	rs376186859	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	30	113	0	ENST00000240189.2:c.645G>T	p.Thr215=	p.T215=	ENST00000240189	NM_023014.1	215	acG/acT	0	T:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS149.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACGTGCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	T:0	ENSP00000240189	.	3/4	.	.	.	.	.	.	.	.	rs376186859	3/4	PASS	ENST00000240189	Transcript	.	.	ENSG00000120952	28841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRAM2_HUMAN	PRAMEF2	HGNC	.	.	UPI0000139EF9	SNV	PRAMEF2,synonymous_variant,p.%3D,ENST00000240189,;	732	113	140	SUCCESS
ATAD3B	83858	.	GRCh37	1	1425945	1425945	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs1281098355	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	101	203	0	ENST00000308647.7:c.1508G>T	p.Arg503Leu	p.R503L	ENST00000308647	NM_031921.4	503	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS30.1	1508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGCCTGA	NONE	.	.	hmmpanther:PTHR23075:SF2,hmmpanther:PTHR23075,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000311766	.	15/16	.	.	.	.	.	.	.	.	COSM895040	15/16	PASS	ENST00000308647	Transcript	.	.	ENSG00000160072	24007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.629)	.	deleterious(0.04)	1	ATD3B_HUMAN	ATAD3B	HGNC	Q9H834_HUMAN	.	UPI000013E044	SNV	ATAD3B,missense_variant,p.Arg503Leu,ENST00000308647,;ATAD3B,splice_region_variant,,ENST00000472194,;ATAD3B,splice_region_variant,,ENST00000485748,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;	1624	203	242	SUCCESS
BCL9	607	.	GRCh37	1	147096555	147096555	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	70	0	ENST00000234739.3:c.4076C>A	p.Pro1359His	p.P1359H	ENST00000234739	NM_004326.3	1359	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS30833.1	4076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCCTGGCA	NONE	.	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5	.	.	ENSP00000234739	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000234739	Transcript	.	.	ENSG00000116128	1008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	deleterious(0.02)	.	BCL9_HUMAN	BCL9	HGNC	.	.	UPI000013C9B9	SNV	BCL9,missense_variant,p.Pro1359His,ENST00000234739,;ACP6,downstream_gene_variant,,ENST00000609196,;	4816	70	79	SUCCESS
RFX5	5993	.	GRCh37	1	151315600	151315600	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764649554	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	56	0	ENST00000290524.4:c.913C>T	p.Arg305Trp	p.R305W	ENST00000290524	NM_000449.3	305	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS994.1	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCTCTC	NONE	byFrequency	.	.	.	.	ENSP00000290524	.	11/11	.	.	.	.	.	.	.	.	rs764649554	11/11	PASS	ENST00000290524	Transcript	.	.	ENSG00000143390	9986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	RFX5_HUMAN	RFX5	HGNC	Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN	.	UPI0000000E8B	SNV	RFX5,missense_variant,p.Arg305Trp,ENST00000392746,;RFX5,missense_variant,p.Arg265Trp,ENST00000452513,;RFX5,missense_variant,p.Arg305Trp,ENST00000452671,;RFX5,missense_variant,p.Arg197Trp,ENST00000436637,;RFX5,missense_variant,p.Arg305Trp,ENST00000368870,;RFX5,missense_variant,p.Arg305Trp,ENST00000290524,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000450506,;RFX5,downstream_gene_variant,,ENST00000458484,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000436271,;RFX5,downstream_gene_variant,,ENST00000422595,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000469513,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000494217,;	1092	56	48	SUCCESS
NBPF1	55672	.	GRCh37	1	16918699	16918699	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	24	0	ENST00000430580.2:c.-81G>T		p.*27*	ENST00000430580	NM_017940.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	TCCTTCACCAC	NONE	.	.	.	.	.	ENSP00000474456	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000430580	Transcript	.	.	ENSG00000219481	26088	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBPF1	HGNC	S4R3W5_HUMAN,S4R3K2_HUMAN,S4R3H5_HUMAN,Q3BBU8_HUMAN	.	UPI0000E04FDF	SNV	NBPF1,5_prime_UTR_variant,,ENST00000430580,;NBPF1,downstream_gene_variant,,ENST00000420513,;NBPF1,5_prime_UTR_variant,,ENST00000392963,;	808	24	28	SUCCESS
CACNA1E	777	.	GRCh37	1	181726159	181726159	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	108	0	ENST00000367573.2:c.4226T>C	p.Val1409Ala	p.V1409A	ENST00000367573	NM_001205293.1	1409	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS55664.1	4226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTCTTCC	BUFFER|p.F1017F|c.3051C>T|4,BUFFER|p.F1410F|c.4230C>T|4,BUFFER|p.F1410F|c.4230C>T|4	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000356545	.	30/48	.	.	.	.	.	.	.	.	.	30/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious(0)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Val1341Ala,ENST00000358338,;CACNA1E,missense_variant,p.Val1016Ala,ENST00000367567,;CACNA1E,missense_variant,p.Val1360Ala,ENST00000357570,;CACNA1E,missense_variant,p.Val1390Ala,ENST00000360108,;CACNA1E,missense_variant,p.Val1390Ala,ENST00000526775,;CACNA1E,missense_variant,p.Val1409Ala,ENST00000367573,;CACNA1E,missense_variant,p.Val1409Ala,ENST00000367570,;	4226	108	95	SUCCESS
LHX9	56956	.	GRCh37	1	197898219	197898219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	111	159	0	ENST00000367387.4:c.1024C>A	p.Leu342Ile	p.L342I	ENST00000367387	NM_020204.2	342	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS1393.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGCTTCCG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF95	.	.	ENSP00000356357	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367387	Transcript	.	.	ENSG00000143355	14222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	tolerated(0.15)	.	LHX9_HUMAN	LHX9	HGNC	.	.	UPI00001B6453	SNV	LHX9,missense_variant,p.Leu342Ile,ENST00000367387,;LHX9,missense_variant,p.Leu333Ile,ENST00000367390,;LHX9,intron_variant,,ENST00000561173,;LHX9,intron_variant,,ENST00000367391,;LHX9,intron_variant,,ENST00000337020,;	1449	159	184	SUCCESS
LAD1	3898	.	GRCh37	1	201355885	201355885	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1279795745	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	76	0	ENST00000391967.2:c.604A>G	p.Ile202Val	p.I202V	ENST00000391967	NM_005558.3	202	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1410.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATGGAGG	NONE	.	.	hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144	.	.	ENSP00000375829	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000391967	Transcript	.	.	ENSG00000159166	6472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.92)	.	LAD1_HUMAN	LAD1	HGNC	.	.	UPI000006CD59	SNV	LAD1,missense_variant,p.Ile202Val,ENST00000391967,;LAD1,missense_variant,p.Ile216Val,ENST00000367313,;LAD1,upstream_gene_variant,,ENST00000503578,;LAD1,upstream_gene_variant,,ENST00000488842,;LAD1,upstream_gene_variant,,ENST00000475136,;	906	76	69	SUCCESS
ELF3	1999	.	GRCh37	1	201981093	201981093	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	89	0	ENST00000359651.3:c.172A>G	p.Ser58Gly	p.S58G	ENST00000359651		58	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS1419.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGCTGG	NONE	.	.	PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF13,Pfam_domain:PF02198,Gene3D:1.10.150.50,SMART_domains:SM00251,Superfamily_domains:SSF47769	.	.	ENSP00000352673	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000359651	Transcript	.	.	ENSG00000163435	3318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	deleterious(0.05)	.	ELF3_HUMAN	ELF3	HGNC	.	.	UPI0000034E32	SNV	ELF3,missense_variant,p.Ser58Gly,ENST00000367284,;ELF3,missense_variant,p.Ser58Gly,ENST00000359651,;ELF3,missense_variant,p.Ser58Gly,ENST00000367283,;ELF3,missense_variant,p.Ser56Gly,ENST00000446188,;RP11-510N19.5,intron_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000490203,;ELF3,non_coding_transcript_exon_variant,,ENST00000495848,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,upstream_gene_variant,,ENST00000479874,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,upstream_gene_variant,,ENST00000470384,;	3364	90	82	SUCCESS
FAM43B	163933	.	GRCh37	1	20879246	20879246	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	9	0	ENST00000332947.4:c.-221G>A		p.*74*	ENST00000332947	NM_207334.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS209.1	.	MUTECT|MUSE	.	CACTCGGCCGC	NONE	.	.	.	.	.	ENSP00000331397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332947	Transcript	.	.	ENSG00000183114	31791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA43B_HUMAN	FAM43B	HGNC	.	.	UPI00001C0D42	SNV	FAM43B,5_prime_UTR_variant,,ENST00000332947,;	315	9	17	SUCCESS
RHCE	6006	.	GRCh37	1	25729125	25729125	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	7	155	0	ENST00000294413.7:c.448T>A	p.Leu150Ile	p.L150I	ENST00000294413	NM_020485.4	150	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS30635.1	448	MUTECT|MUSE	.	GCCTAAAGCTG	NONE	.	.	Prints_domain:PR00342,Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix	.	.	ENSP00000294413	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000294413	Transcript	.	.	ENSG00000188672	10008	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	deleterious(0.03)	.	RHCE_HUMAN	RHCE	HGNC	Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN	.	UPI00001D9627	SNV	RHCE,missense_variant,p.Leu150Ile,ENST00000340849,;RHCE,missense_variant,p.Leu134Ile,ENST00000374352,;RHCE,missense_variant,p.Leu24Ile,ENST00000527747,;RHCE,missense_variant,p.Leu150Ile,ENST00000425135,;RHCE,missense_variant,p.Leu150Ile,ENST00000349438,;RHCE,missense_variant,p.Leu150Ile,ENST00000413854,;RHCE,missense_variant,p.Leu150Ile,ENST00000455194,;RHCE,missense_variant,p.Leu134Ile,ENST00000349320,;RHCE,missense_variant,p.Leu150Ile,ENST00000346452,;RHCE,missense_variant,p.Leu150Ile,ENST00000243186,;RHCE,missense_variant,p.Leu150Ile,ENST00000294413,;AL031284.1,upstream_gene_variant,,ENST00000577655,;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,3_prime_UTR_variant,,ENST00000533771,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;RP3-469D22.1,downstream_gene_variant,,ENST00000541879,;RP3-469D22.1,downstream_gene_variant,,ENST00000419297,;	507	155	175	SUCCESS
AGO1	26523	.	GRCh37	1	36359333	36359333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	29	0	ENST00000373204.4:c.571G>T	p.Gly191Trp	p.G191W	ENST00000373204	NM_012199.2	191	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS398.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGGGGGT	BUFFER|p.R194C|c.580C>T|3	.	.	hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF17,Pfam_domain:PF08699,Superfamily_domains:SSF101690	.	.	ENSP00000362300	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000373204	Transcript	.	.	ENSG00000092847	3262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AGO1_HUMAN	AGO1	HGNC	Q5TA58_HUMAN	.	UPI000012D07D	SNV	AGO1,missense_variant,p.Gly191Trp,ENST00000373204,;AGO1,missense_variant,p.Gly116Trp,ENST00000373206,;	784	29	40	SUCCESS
TACSTD2	4070	.	GRCh37	1	59043008	59043008	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	35	0	ENST00000371225.2:c.-180C>T		p.*60*	ENST00000371225	NM_002353.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS609.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTGGGTGA	NONE	.	.	.	.	.	ENSP00000360269	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371225	Transcript	.	.	ENSG00000184292	11530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TACD2_HUMAN	TACSTD2	HGNC	.	.	UPI000006EBAF	SNV	TACSTD2,5_prime_UTR_variant,,ENST00000371225,;	159	35	35	SUCCESS
PRKACB	5567	.	GRCh37	1	84543803	84543803	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1557887994	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	22	0	ENST00000370689.2:c.-206C>T		p.*69*	ENST00000370689	NM_002731.2			0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGCTGC	NONE	.	189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605506	Transcript	.	.	ENSG00000271576	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-486G15.2	Clone_based_vega_gene	.	.	.	SNV	PRKACB,5_prime_UTR_variant,,ENST00000370689,;PRKACB,upstream_gene_variant,,ENST00000370688,;RP11-486G15.2,upstream_gene_variant,,ENST00000605506,;	.	22	34	SUCCESS
WDR63	0	.	GRCh37	1	85555822	85555822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149091067	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	404	105	357	0	ENST00000294664.6:c.764C>T	p.Thr255Met	p.T255M	ENST00000294664	NM_145172.3	255	aCg/aTg	0	T:0.0002	T:0	.	T:0	.	T	T/M	protein_coding	YES	CCDS702.1	764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTACGCAAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	T:0	T:0.0003	ENSP00000294664	T:0	8/23	.	.	.	.	.	.	.	.	rs149091067	8/23	PASS	ENST00000294664	Transcript	.	T:0.0002	ENSG00000162643	30711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	T:0.001	deleterious(0.01)	.	WDR63_HUMAN	WDR63	HGNC	.	.	UPI00000744F1	SNV	WDR63,missense_variant,p.Thr255Met,ENST00000294664,;WDR63,intron_variant,,ENST00000326813,;WDR63,intron_variant,,ENST00000370596,;WDR63,missense_variant,p.Thr255Met,ENST00000464801,;	944	358	510	SUCCESS
PSMF1	9491	.	GRCh37	20	1115886	1115886	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777003948	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	29	83	0	ENST00000333082.3:c.488C>G	p.Ala163Gly	p.A163G	ENST00000333082	NM_178578.2	163	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS13010.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCGCCAGAG	NONE	byFrequency	.	hmmpanther:PTHR13266	.	.	ENSP00000338039	.	4/7	.	.	.	.	.	.	.	.	rs777003948	4/7	PASS	ENST00000335877	Transcript	.	.	ENSG00000125818	9571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.41)	.	PSMF1_HUMAN	PSMF1	HGNC	Q5QPM9_HUMAN	.	UPI000013CBCB	SNV	PSMF1,missense_variant,p.Ala163Gly,ENST00000246015,;PSMF1,missense_variant,p.Ala75Gly,ENST00000381898,;PSMF1,missense_variant,p.Ala23Gly,ENST00000435720,;PSMF1,missense_variant,p.Ala163Gly,ENST00000381899,;PSMF1,missense_variant,p.Ala163Gly,ENST00000333082,;PSMF1,missense_variant,p.Ala163Gly,ENST00000335877,;PSMF1,intron_variant,,ENST00000438768,;PSMF1,non_coding_transcript_exon_variant,,ENST00000478004,;PSMF1,non_coding_transcript_exon_variant,,ENST00000479715,;PSMF1,non_coding_transcript_exon_variant,,ENST00000484891,;	664	83	115	SUCCESS
TGM3	7053	.	GRCh37	20	2291690	2291690	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	59	116	0	ENST00000381458.5:c.455G>C	p.Arg152Thr	p.R152T	ENST00000381458	NM_003245.3	152	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS33435.1	455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAGAGAAG	NONE	.	.	hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	.	ENSP00000370867	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000381458	Transcript	.	.	ENSG00000125780	11779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	TGM3_HUMAN	TGM3	HGNC	.	.	UPI0000136CCC	SNV	TGM3,missense_variant,p.Arg152Thr,ENST00000381458,;TGM3,upstream_gene_variant,,ENST00000463090,;	518	116	126	SUCCESS
VPS16	64601	.	GRCh37	20	2843248	2843248	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	49	0	ENST00000380445.3:c.1095G>C	p.Glu365Asp	p.E365D	ENST00000380445	NM_022575.2	365	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS13036.1	1095	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GACGAGTACCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.585)	.	tolerated(0.06)	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,missense_variant,p.Glu19Asp,ENST00000380443,;VPS16,missense_variant,p.Glu365Asp,ENST00000380445,;VPS16,intron_variant,,ENST00000380469,;VPS16,intron_variant,,ENST00000453689,;VPS16,downstream_gene_variant,,ENST00000417508,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,splice_acceptor_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	1167	49	42	SUCCESS
PABPC1L	80336	.	GRCh37	20	43550238	43550238	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770340631	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	84	0	ENST00000217073.2:c.742G>T	p.Val248Leu	p.V248L	ENST00000217073		248	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS42878.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGTGGTC	NONE	byFrequency	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF230,hmmpanther:PTHR24011,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000255136	.	6/15	.	.	.	.	.	.	.	.	rs770340631	6/15	PASS	ENST00000255136	Transcript	.	.	ENSG00000101104	15797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	PAP1L_HUMAN	PABPC1L	HGNC	Q4VXT4_HUMAN	.	UPI00005190DD	SNV	PABPC1L,missense_variant,p.Val248Leu,ENST00000217073,;PABPC1L,missense_variant,p.Val248Leu,ENST00000255136,;PABPC1L,missense_variant,p.Val248Leu,ENST00000217074,;PABPC1L,missense_variant,p.Val248Leu,ENST00000537323,;PABPC1L,intron_variant,,ENST00000481196,;PABPC1L,upstream_gene_variant,,ENST00000476056,;PABPC1L,upstream_gene_variant,,ENST00000490798,;	824	84	78	SUCCESS
NCOA3	8202	.	GRCh37	20	46262325	46262326	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	297	59	226	0	ENST00000371998.3:c.915dup	p.Ser306Ter	p.S306*	ENST00000371998		303	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13407.1	909-910	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGAGATTTTT	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Pfam_domain:PF14598,Gene3D:3.30.450.20,PIRSF_domain:PIRSF038181,Superfamily_domains:SSF55785	.	.	ENSP00000361066	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	insertion	NCOA3,frameshift_variant,p.Ser306Ter,ENST00000371997,;NCOA3,frameshift_variant,p.Ser306Ter,ENST00000372004,;NCOA3,frameshift_variant,p.Ser306Ter,ENST00000341724,;NCOA3,frameshift_variant,p.Ser306Ter,ENST00000371998,;NCOA3,downstream_gene_variant,,ENST00000497292,;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;	1100-1101	226	356	SUCCESS
HRH3	11255	.	GRCh37	20	60791440	60791440	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	73	0	ENST00000340177.5:c.960C>T	p.Leu320=	p.L320=	ENST00000340177	NM_007232.2	320	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13493.1	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTGAGTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF242,hmmpanther:PTHR24249,Pfam_domain:PF00001	.	.	ENSP00000342560	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340177	Transcript	.	.	ENSG00000101180	5184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH3_HUMAN	HRH3	HGNC	.	.	UPI000012C6ED	SNV	HRH3,synonymous_variant,p.%3D,ENST00000317393,;HRH3,synonymous_variant,p.%3D,ENST00000340177,;	1245	73	86	SUCCESS
PAK7	0	.	GRCh37	20	9560805	9560805	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	86	0	ENST00000353224.5:c.977T>C	p.Met326Thr	p.M326T	ENST00000353224	NM_177990.2	326	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS13107.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACATTGTG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.64)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Met326Thr,ENST00000378423,;PAK7,missense_variant,p.Met326Thr,ENST00000378429,;PAK7,missense_variant,p.Met326Thr,ENST00000353224,;RP5-986I17.2,downstream_gene_variant,,ENST00000428769,;	1524	86	99	SUCCESS
USP16	10600	.	GRCh37	21	30409652	30409652	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	38	152	0	ENST00000334352.4:c.504T>C	p.Ser168=	p.S168=	ENST00000334352	NM_001032410.1	168	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS13583.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTAAGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF420	.	.	ENSP00000334808	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000334352	Transcript	.	.	ENSG00000156256	12614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP16_HUMAN	USP16	HGNC	H9KVB6_HUMAN	.	UPI00001379FA	SNV	USP16,synonymous_variant,p.%3D,ENST00000334352,;USP16,synonymous_variant,p.%3D,ENST00000399976,;USP16,synonymous_variant,p.%3D,ENST00000399975,;USP16,intron_variant,,ENST00000535828,;USP16,downstream_gene_variant,,ENST00000399973,;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;	735	152	199	SUCCESS
MGAT3	4248	.	GRCh37	22	39884130	39884130	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201303175	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	61	0	ENST00000341184.6:c.778G>A	p.Gly260Ser	p.G260S	ENST00000341184	NM_002409.4	260	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS13994.2	778	RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGGCACC	NONE	byCluster	.	hmmpanther:PTHR12224,hmmpanther:PTHR12224:SF0,Pfam_domain:PF04724	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	rs201303175	2/2	PASS	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.74)	.	deleterious(0.01)	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,missense_variant,p.Gly260Ser,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	993	61	50	SUCCESS
SULT1C4	27233	.	GRCh37	2	109003792	109003792	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	45	145	0	ENST00000272452.2:c.813G>A	p.Trp271Ter	p.W271*	ENST00000272452	NM_006588.2	271	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS2077.1	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGAAGAA	NONE	.	.	hmmpanther:PTHR11783:SF51,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000272452	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000272452	Transcript	.	.	ENSG00000198075	11457	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST1C4_HUMAN	SULT1C4	HGNC	.	.	UPI000013D958	SNV	SULT1C4,stop_gained,p.Trp271Ter,ENST00000272452,;SULT1C4,stop_gained,p.Trp196Ter,ENST00000409309,;SULT1C4,downstream_gene_variant,,ENST00000494122,;	1139	145	161	SUCCESS
IWS1	55677	.	GRCh37	2	128244217	128244217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	82	0	ENST00000295321.4:c.2240G>T	p.Gly747Val	p.G747V	ENST00000295321	NM_017969.2	747	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2146.1	2240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCCAGGA	NONE	.	.	hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908	.	.	ENSP00000295321	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.02)	.	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,missense_variant,p.Gly747Val,ENST00000295321,;AC010976.2,intron_variant,,ENST00000598065,;AC010976.2,intron_variant,,ENST00000595561,;AC010976.2,intron_variant,,ENST00000454503,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,intron_variant,,ENST00000596439,;IWS1,upstream_gene_variant,,ENST00000412979,;	2500	82	72	SUCCESS
XIRP2	129446	.	GRCh37	2	168106277	168106277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	75	324	1	ENST00000409195.1:c.8375A>G	p.Asn2792Ser	p.N2792S	ENST00000409195	NM_152381.5	2792	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42769.1	8375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAACCAGG	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Asn2570Ser,ENST00000409273,;XIRP2,missense_variant,p.Asn2792Ser,ENST00000409195,;XIRP2,missense_variant,p.Asn2792Ser,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8464	325	267	SUCCESS
TTN	7273	.	GRCh37	2	179632561	179632561	+	synonymous_variant	Silent	SNP	T	T	C	rs1358537431	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	76	0	ENST00000591111.1:c.9396A>G	p.Gly3132=	p.G3132=	ENST00000591111		3132	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS59435.1	9396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCTCCTGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	40/363	.	.	.	.	.	.	.	.	.	40/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000360870,;TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000578746,;	9621	76	70	SUCCESS
NYAP2	57624	.	GRCh37	2	226447694	226447694	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201097764	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	113	0	ENST00000272907.6:c.1561G>T	p.Gly521Cys	p.G521C	ENST00000272907	NM_020864.1	521	Ggc/Tgc	0	A:0.0021	A:0.0038	.	A:0.0014	.	T	G/C	protein_coding	YES	CCDS46529.1	1561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGGCCGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22633,Low_complexity_(Seg):seg	A:0	A:0	ENSP00000272907	A:0	4/6	.	.	.	.	.	.	.	.	rs201097764	4/6	PASS	ENST00000272907	Transcript	.	A:0.0012	ENSG00000144460	29291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,missense_variant,p.Gly521Cys,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	1974	113	95	SUCCESS
TRIP12	9320	.	GRCh37	2	230672462	230672462	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	74	0	ENST00000283943.5:c.2314T>A	p.Trp772Arg	p.W772R	ENST00000283943	NM_004238.1	772	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS33391.1	2314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCAGAGGC	NONE	.	.	Superfamily_domains:SSF117839,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50918	.	.	ENSP00000283943	.	16/41	.	.	.	.	.	.	.	.	.	16/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Trp772Arg,ENST00000283943,;TRIP12,missense_variant,p.Trp475Arg,ENST00000389045,;TRIP12,missense_variant,p.Trp820Arg,ENST00000389044,;TRIP12,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;TRIP12,upstream_gene_variant,,ENST00000487178,;TRIP12,downstream_gene_variant,,ENST00000477441,;	2493	74	76	SUCCESS
PPP1CB	5500	.	GRCh37	2	28975008	28975008	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	160	152	0	ENST00000296122.6:c.18G>T	p.Leu6=	p.L6=	ENST00000296122		6	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33169.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGAACGT	NONE	.	.	hmmpanther:PTHR11668:SF204,hmmpanther:PTHR11668	.	.	ENSP00000378769	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000395366	Transcript	.	.	ENSG00000213639	9282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP1B_HUMAN	PPP1CB	HGNC	E7ETD8_HUMAN,C9JP48_HUMAN,C9J9S3_HUMAN,C4TNW5_HUMAN,B4DJ75_HUMAN	.	UPI000000007B	SNV	PPP1CB,synonymous_variant,p.%3D,ENST00000358506,;PPP1CB,synonymous_variant,p.%3D,ENST00000395366,;PPP1CB,synonymous_variant,p.%3D,ENST00000420282,;PPP1CB,synonymous_variant,p.%3D,ENST00000296122,;PPP1CB,synonymous_variant,p.%3D,ENST00000441461,;PPP1CB,intron_variant,,ENST00000455580,;PPP1CB,non_coding_transcript_exon_variant,,ENST00000464273,;PPP1CB,intron_variant,,ENST00000427786,;	290	152	244	SUCCESS
SOX11	6664	.	GRCh37	2	5833474	5833474	+	synonymous_variant	Silent	SNP	C	C	T	rs745910593	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	8	0	ENST00000322002.3:c.621C>T	p.Gly207=	p.G207=	ENST00000322002	NM_003108.3	207	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1654.1	621	MUTECT|MUSE|VARSCANS	.	AGCGGCTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10270:SF113,hmmpanther:PTHR10270,PIRSF_domain:PIRSF038098	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	rs745910593	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,synonymous_variant,p.%3D,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	676	8	20	SUCCESS
FANCD2	2177	.	GRCh37	3	10083389	10083389	+	synonymous_variant	Silent	SNP	T	T	C	rs756621826	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	58	218	0	ENST00000383807.1:c.778T>C	p.Leu260=	p.L260=	ENST00000383807	NM_001018115.1	260	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS2595.1	778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTATTGAAG	NONE	.	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	.	.	ENSP00000287647	.	10/43	.	.	.	.	.	.	.	.	rs756621826	10/43	PASS	ENST00000287647	Transcript	.	.	ENSG00000144554	3585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,synonymous_variant,p.%3D,ENST00000383807,;FANCD2,synonymous_variant,p.%3D,ENST00000287647,;FANCD2,synonymous_variant,p.%3D,ENST00000419585,;FANCD2,synonymous_variant,p.%3D,ENST00000383806,;FANCD2,downstream_gene_variant,,ENST00000431693,;RNU6-670P,downstream_gene_variant,,ENST00000364312,;FANCD2,upstream_gene_variant,,ENST00000483276,;FANCD2,downstream_gene_variant,,ENST00000438741,;FANCD2,upstream_gene_variant,,ENST00000464934,;	871	218	187	SUCCESS
RP11-702L6.4	0	.	GRCh37	3	109128967	109128967	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	117	0	ENST00000497996.1:n.131T>A		p.*44*	ENST00000497996				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTTCAGCT	NONE	.	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000497996	Transcript	.	.	ENSG00000228980	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-702L6.4	Clone_based_vega_gene	.	.	.	SNV	RP11-702L6.4,non_coding_transcript_exon_variant,,ENST00000497996,;RP11-702L6.4,upstream_gene_variant,,ENST00000489670,;H3F3AP3,upstream_gene_variant,,ENST00000497682,;	131	117	91	SUCCESS
BTLA	151888	.	GRCh37	3	112198492	112198492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	281	11	260	0	ENST00000334529.5:c.213G>T	p.Trp71Cys	p.W71C	ENST00000334529	NM_181780.3	71	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33819.1	213	MUTECT|MUSE	.	TTGCACCAAGT	NONE	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000333919	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000334529	Transcript	.	.	ENSG00000186265	21087	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BTLA_HUMAN	BTLA	HGNC	.	.	UPI0000209F49	SNV	BTLA,missense_variant,p.Trp71Cys,ENST00000334529,;BTLA,missense_variant,p.Trp71Cys,ENST00000383680,;	416	260	292	SUCCESS
ARMC8	25852	.	GRCh37	3	138009428	138009428	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	93	0	ENST00000469044.1:c.1935C>A	p.Ile645=	p.I645=	ENST00000469044	NM_001267041.1	645	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54646.1	1893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCGTAGA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR15651,hmmpanther:PTHR15651:SF7	.	.	ENSP00000420333	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000481646	Transcript	.	.	ENSG00000114098	24999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMC8_HUMAN	ARMC8	HGNC	C9J8P8_HUMAN,C9J625_HUMAN,B7Z979_HUMAN	.	UPI000007471D	SNV	ARMC8,synonymous_variant,p.%3D,ENST00000538260,;ARMC8,synonymous_variant,p.%3D,ENST00000461822,;ARMC8,synonymous_variant,p.%3D,ENST00000491704,;ARMC8,synonymous_variant,p.%3D,ENST00000469044,;ARMC8,synonymous_variant,p.%3D,ENST00000485396,;ARMC8,synonymous_variant,p.%3D,ENST00000393058,;ARMC8,synonymous_variant,p.%3D,ENST00000481646,;NME9,intron_variant,,ENST00000536478,;NME9,intron_variant,,ENST00000383180,;NME9,intron_variant,,ENST00000341790,;NME9,intron_variant,,ENST00000317876,;NME9,intron_variant,,ENST00000484930,;ARMC8,downstream_gene_variant,,ENST00000464181,;ARMC8,non_coding_transcript_exon_variant,,ENST00000460495,;ARMC8,non_coding_transcript_exon_variant,,ENST00000466762,;ARMC8,non_coding_transcript_exon_variant,,ENST00000494015,;NME9,intron_variant,,ENST00000492993,;	2299	93	116	SUCCESS
ZBBX	79740	.	GRCh37	3	167035353	167035353	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs572404264	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	54	83	0	ENST00000392766.2:c.1016C>T	p.Pro339Leu	p.P339L	ENST00000392766	NM_001199201.1	339	cCa/cTa	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS56296.1	1016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGGTAGC	NONE	by1000G	.	.	A:0	.	ENSP00000390232	A:0	12/21	.	.	.	.	.	.	.	.	rs572404264	12/21	PASS	ENST00000455345	Transcript	.	A:0.0002	ENSG00000169064	26245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.323)	A:0.001	tolerated(0.05)	.	ZBBX_HUMAN	ZBBX	HGNC	C9JVV2_HUMAN	.	UPI000020A746	SNV	ZBBX,missense_variant,p.Pro339Leu,ENST00000455345,;ZBBX,missense_variant,p.Pro339Leu,ENST00000392767,;ZBBX,missense_variant,p.Pro339Leu,ENST00000392766,;ZBBX,missense_variant,p.Pro339Leu,ENST00000307529,;ZBBX,missense_variant,p.Pro310Leu,ENST00000392764,;ZBBX,intron_variant,,ENST00000469220,;	1300	83	160	SUCCESS
NAT6	0	.	GRCh37	3	50334886	50334886	+	synonymous_variant	Silent	SNP	C	C	T	rs781901007	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	70	1	ENST00000354862.4:c.75G>A	p.Leu25=	p.L25=	ENST00000354862	NM_012191.3	25	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43095.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCAGCTC	NONE	byFrequency	.	hmmpanther:PTHR13538,hmmpanther:PTHR13538:SF3	.	.	ENSP00000346927	.	2/2	.	.	.	.	.	.	.	.	rs781901007	2/2	PASS	ENST00000354862	Transcript	.	.	ENSG00000243477	30252	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAT6_HUMAN	NAT6	HGNC	Q6IAP1_HUMAN,C9JL88_HUMAN,C9J451_HUMAN	.	UPI00001BD92D	SNV	NAT6,synonymous_variant,p.%3D,ENST00000417393,;NAT6,synonymous_variant,p.%3D,ENST00000443842,;NAT6,synonymous_variant,p.%3D,ENST00000443094,;NAT6,synonymous_variant,p.%3D,ENST00000442620,;NAT6,synonymous_variant,p.%3D,ENST00000354862,;NAT6,synonymous_variant,p.%3D,ENST00000450489,;NAT6,synonymous_variant,p.%3D,ENST00000452674,;HYAL3,intron_variant,,ENST00000450982,;HYAL3,intron_variant,,ENST00000336307,;HYAL3,intron_variant,,ENST00000359051,;HYAL3,intron_variant,,ENST00000415204,;HYAL3,intron_variant,,ENST00000513170,;HYAL3,upstream_gene_variant,,ENST00000435141,;IFRD2,upstream_gene_variant,,ENST00000429673,;HYAL1,downstream_gene_variant,,ENST00000395143,;HYAL1,downstream_gene_variant,,ENST00000447605,;HYAL1,downstream_gene_variant,,ENST00000457214,;IFRD2,upstream_gene_variant,,ENST00000336089,;HYAL1,downstream_gene_variant,,ENST00000320295,;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000395144,;IFRD2,upstream_gene_variant,,ENST00000417626,;IFRD2,upstream_gene_variant,,ENST00000436390,;	277	71	49	SUCCESS
ANXA5	308	.	GRCh37	4	122602881	122602881	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	52	0	ENST00000296511.5:c.339T>C	p.Ile113=	p.I113=	ENST00000296511	NM_001154.3	113	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS3720.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATAATTTC	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF26,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196	.	.	ENSP00000296511	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000296511	Transcript	1	.	ENSG00000164111	543	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANXA5_HUMAN	ANXA5	HGNC	.	.	UPI000002BA00	SNV	ANXA5,synonymous_variant,p.%3D,ENST00000296511,;ANXA5,synonymous_variant,p.%3D,ENST00000501272,;ANXA5,intron_variant,,ENST00000515017,;ANXA5,non_coding_transcript_exon_variant,,ENST00000509016,;ANXA5,synonymous_variant,p.%3D,ENST00000506395,;ANXA5,3_prime_UTR_variant,,ENST00000513728,;ANXA5,non_coding_transcript_exon_variant,,ENST00000511552,;ANXA5,non_coding_transcript_exon_variant,,ENST00000513523,;ANXA5,non_coding_transcript_exon_variant,,ENST00000513428,;ANXA5,upstream_gene_variant,,ENST00000509648,;	625	52	82	SUCCESS
NPY1R	4886	.	GRCh37	4	164246911	164246911	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	28	0	ENST00000296533.2:c.700-1G>C		p.X234_splice	ENST00000296533	NM_000909.5	234		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34089.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATCTATGG	NONE	.	.	.	.	.	ENSP00000354652	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296533	Transcript	.	.	ENSG00000164128	7956	.	.	HIGH	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPY1R_HUMAN	NPY1R	HGNC	D6RI97_HUMAN,D6RHH6_HUMAN,D6REY0_HUMAN,D6RC44_HUMAN,D6R9D0_HUMAN,B4DKL9_HUMAN	.	UPI000002D509	SNV	NPY1R,splice_acceptor_variant,,ENST00000512819,;NPY1R,splice_acceptor_variant,,ENST00000504391,;NPY1R,splice_acceptor_variant,,ENST00000509586,;NPY1R,splice_acceptor_variant,,ENST00000296533,;NPY1R,downstream_gene_variant,,ENST00000511901,;NPY1R,downstream_gene_variant,,ENST00000515701,;NPY1R,downstream_gene_variant,,ENST00000504790,;	.	28	33	SUCCESS
HTT	3064	.	GRCh37	4	3241612	3241612	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	78	0	ENST00000355072.5:c.9255G>C	p.Gln3085His	p.Q3085H	ENST00000355072	NM_002111.6	3085	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS43206.1	9255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGGTGGA	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	67/67	.	.	.	.	.	.	.	.	.	67/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Gln3085His,ENST00000355072,;MSANTD1,upstream_gene_variant,,ENST00000507492,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;	9400	78	71	SUCCESS
HOPX	84525	.	GRCh37	4	57522168	57522168	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	35	0	ENST00000317745.7:c.-2C>T		p.*1*	ENST00000317745		18		0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS54767.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGTCCCT	NONE	.	.	hmmpanther:PTHR21408	.	.	ENSP00000450527	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000554144	Transcript	.	.	ENSG00000171476	24961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	HOP_HUMAN	HOPX	HGNC	G3V469_HUMAN	.	UPI000194EC25	SNV	HOPX,missense_variant,p.Thr18Ile,ENST00000508121,;HOPX,missense_variant,p.Thr18Ile,ENST00000557328,;HOPX,missense_variant,p.Thr18Ile,ENST00000554144,;HOPX,missense_variant,p.Thr18Ile,ENST00000420433,;HOPX,5_prime_UTR_variant,,ENST00000317745,;HOPX,5_prime_UTR_variant,,ENST00000553379,;HOPX,5_prime_UTR_variant,,ENST00000503639,;HOPX,5_prime_UTR_variant,,ENST00000556614,;HOPX,5_prime_UTR_variant,,ENST00000555760,;HOPX,5_prime_UTR_variant,,ENST00000381260,;HOPX,5_prime_UTR_variant,,ENST00000337881,;HOPX,5_prime_UTR_variant,,ENST00000556376,;HOPX,5_prime_UTR_variant,,ENST00000381255,;HOPX,downstream_gene_variant,,ENST00000605395,;HOPX,upstream_gene_variant,,ENST00000503864,;	588	35	41	SUCCESS
ALB	213	.	GRCh37	4	74283302	74283306	+	frameshift_variant	Frame_Shift_Del	DEL	AGAGG	AGAGG	-	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	AGAGG	AGAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	154	53	212	0	ENST00000295897.4:c.1344_1348del	p.Glu449LeufsTer13	p.E449Lfs*13	ENST00000295897	NM_000477.5	448	gtAGAGGtc/gttc	0	.	.	.	.	.	-	VEV/VX	protein_coding	YES	CCDS3555.1	1344-1348	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTTGTAGAGGTCTCA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Glu449LeufsTer13,ENST00000509063,;ALB,frameshift_variant,p.Glu294LeufsTer13,ENST00000511370,;ALB,frameshift_variant,p.Glu257LeufsTer13,ENST00000415165,;ALB,frameshift_variant,p.Glu449LeufsTer13,ENST00000295897,;ALB,frameshift_variant,p.Glu299LeufsTer13,ENST00000503124,;ALB,frameshift_variant,p.Glu334LeufsTer13,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000504043,;	1433-1437	212	207	SUCCESS
DGKQ	1609	.	GRCh37	4	955623	955623	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1200427668	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	34	0	ENST00000273814.3:c.2316-1G>A		p.X772_splice	ENST00000273814	NM_001347.3	772		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3342.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCTGCAG	NONE	.	.	.	.	.	ENSP00000273814	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273814	Transcript	.	.	ENSG00000145214	2856	.	.	HIGH	19/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKQ_HUMAN	DGKQ	HGNC	.	.	UPI00001AE9B4	SNV	DGKQ,splice_acceptor_variant,,ENST00000273814,;DGKQ,splice_acceptor_variant,,ENST00000509465,;DGKQ,intron_variant,,ENST00000515182,;TMEM175,downstream_gene_variant,,ENST00000510493,;TMEM175,downstream_gene_variant,,ENST00000264771,;TMEM175,downstream_gene_variant,,ENST00000515492,;TMEM175,downstream_gene_variant,,ENST00000508204,;TMEM175,downstream_gene_variant,,ENST00000515740,;DGKQ,downstream_gene_variant,,ENST00000502309,;TMEM175,downstream_gene_variant,,ENST00000452360,;TMEM175,downstream_gene_variant,,ENST00000438836,;TMEM175,downstream_gene_variant,,ENST00000513952,;	.	34	30	SUCCESS
PPIP5K2	23262	.	GRCh37	5	102465135	102465135	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	15	0	ENST00000358359.3:c.-159A>G		p.*53*	ENST00000358359	NM_001281471.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34207.1	.	RADIA|MUTECT|MUSE	.	TGCCAACAGTC	NONE	.	.	.	.	.	ENSP00000313070	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000321521	Transcript	.	.	ENSG00000145725	29035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VIP2_HUMAN	PPIP5K2	HGNC	K7EPT7_HUMAN,D6RFG4_HUMAN	.	UPI000006E414	SNV	PPIP5K2,5_prime_UTR_variant,,ENST00000321521,;PPIP5K2,5_prime_UTR_variant,,ENST00000515845,;PPIP5K2,5_prime_UTR_variant,,ENST00000358359,;PPIP5K2,intron_variant,,ENST00000507921,;PPIP5K2,intron_variant,,ENST00000502481,;PPIP5K2,upstream_gene_variant,,ENST00000414217,;PPIP5K2,upstream_gene_variant,,ENST00000507310,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;PPIP5K2,intron_variant,,ENST00000504275,;	415	15	10	SUCCESS
APC	324	.	GRCh37	5	112179485	112179485	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	104	0	ENST00000257430.4:c.8194G>C	p.Asp2732His	p.D2732H	ENST00000257430	NM_000038.5	2732	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4107.1	8194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTGACCAA	NONE	.	.	hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Pfam_domain:PF05937	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Asp2732His,ENST00000457016,;APC,missense_variant,p.Asp2732His,ENST00000257430,;APC,missense_variant,p.Asp2732His,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000508624,;	8574	104	117	SUCCESS
FBN2	2201	.	GRCh37	5	127645697	127645697	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	101	219	0	ENST00000262464.4:c.5178C>T	p.Val1726=	p.V1726=	ENST00000262464	NM_001999.3	1726	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34222.1	5178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTGACCTG	NONE	.	.	SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	46/71	.	.	.	.	.	.	.	.	.	46/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;	6153	219	230	SUCCESS
CHSY3	337876	.	GRCh37	5	129520291	129520291	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	95	198	1	ENST00000305031.4:c.1456A>T	p.Ser486Cys	p.S486C	ENST00000305031	NM_175856.4	486	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34223.1	1456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGAGCCTC	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Pfam_domain:PF05679	.	.	ENSP00000302629	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.01)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Ser486Cys,ENST00000305031,;CHSY3,downstream_gene_variant,,ENST00000507545,;	1814	199	217	SUCCESS
PCDHA13	56136	.	GRCh37	5	140264043	140264043	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	39	147	0	ENST00000289272.2:c.2190C>A	p.Gly730=	p.G730=	ENST00000289272	NM_018904.2	730	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4240.1	2190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGCGTG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	COSM3851267	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,synonymous_variant,p.%3D,ENST00000289272,;PCDHA13,synonymous_variant,p.%3D,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	2190	147	189	SUCCESS
ATP10B	23120	.	GRCh37	5	160059337	160059337	+	synonymous_variant	Silent	SNP	A	A	G	rs779683660	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	61	0	ENST00000327245.5:c.1419T>C	p.Asp473=	p.D473=	ENST00000327245	NM_025153.2	473	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS43394.1	1419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCATCTGA	NONE	.	.	Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	13/26	.	.	.	.	.	.	.	.	rs779683660,COSM3669443	13/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,synonymous_variant,p.%3D,ENST00000327245,;ATP10B,synonymous_variant,p.%3D,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,downstream_gene_variant,,ENST00000521033,;ATP10B,downstream_gene_variant,,ENST00000326831,;ATP10B,downstream_gene_variant,,ENST00000517802,;	2266	61	79	SUCCESS
CCNG1	900	.	GRCh37	5	162866373	162866373	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	69	101	0	ENST00000340828.2:c.111T>C	p.Ile37=	p.I37=	ENST00000340828	NM_004060.3	37	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS4360.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATTGAGTC	NONE	.	.	Superfamily_domains:SSF47954,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF59	.	.	ENSP00000344635	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000340828	Transcript	.	.	ENSG00000113328	1592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNG1_HUMAN	CCNG1	HGNC	D6RGX3_HUMAN,D6RCC5_HUMAN,B4DLW7_HUMAN	.	UPI00001275D2	SNV	CCNG1,synonymous_variant,p.%3D,ENST00000340828,;CCNG1,synonymous_variant,p.%3D,ENST00000393929,;CCNG1,synonymous_variant,p.%3D,ENST00000511490,;CCNG1,synonymous_variant,p.%3D,ENST00000510097,;CCNG1,intron_variant,,ENST00000511683,;CCNG1,intron_variant,,ENST00000512163,;CCNG1,intron_variant,,ENST00000510664,;CCNG1,upstream_gene_variant,,ENST00000504553,;AC112205.1,downstream_gene_variant,,ENST00000599797,;RP11-541P9.3,upstream_gene_variant,,ENST00000503504,;RP11-541P9.3,upstream_gene_variant,,ENST00000458002,;CCNG1,upstream_gene_variant,,ENST00000509143,;CCNG1,upstream_gene_variant,,ENST00000509425,;CCNG1,non_coding_transcript_exon_variant,,ENST00000506186,;CCNG1,non_coding_transcript_exon_variant,,ENST00000512532,;CCNG1,upstream_gene_variant,,ENST00000514367,;	335	101	150	SUCCESS
SLIT3	6586	.	GRCh37	5	168114043	168114043	+	synonymous_variant	Silent	SNP	G	G	A	rs143708971	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	223	9	184	0	ENST00000519560.1:c.3255C>T	p.His1085=	p.H1085=	ENST00000519560	NM_003062.3	1085	caC/caT	0	A:0.0002	A:0	.	A:0	.	A	H	protein_coding	YES	CCDS4369.1	3255	MUTECT|MUSE	.	GCCCCGTGGCG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,PROSITE_patterns:PS01187,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	A:0.001	A:0.0002	ENSP00000430333	A:0	30/36	.	.	.	.	.	.	.	.	rs143708971	30/36	PASS	ENST00000519560	Transcript	.	A:0.0002	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518092,;	3675	184	232	SUCCESS
FAM196B	0	.	GRCh37	5	169310696	169310696	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	52	0	ENST00000377365.3:c.207A>T	p.Gln69His	p.Q69H	ENST00000377365	NM_001129891.1	69	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47336.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCTTGAGT	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000366582	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000377365	Transcript	.	.	ENSG00000204767	37271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	deleterious(0.03)	.	F196B_HUMAN	FAM196B	HGNC	.	.	UPI0000480500	SNV	FAM196B,missense_variant,p.Gln69His,ENST00000377365,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000256935,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	1589	52	84	SUCCESS
KIAA0947	0	.	GRCh37	5	5463510	5463510	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	81	0	ENST00000296564.7:c.4063C>G	p.Gln1355Glu	p.Q1355E	ENST00000296564	NM_015325.2	1355	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS47187.1	4063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCAAACC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Gln1355Glu,ENST00000296564,;	4285	81	91	SUCCESS
MARVELD2	153562	.	GRCh37	5	68728859	68728859	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766199160	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	52	73	0	ENST00000325631.5:c.1442G>A	p.Arg481Lys	p.R481K	ENST00000325631	NM_001038603.2	481	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS34175.1	1442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGGAAGT	NONE	.	.	Superfamily_domains:0053542,Pfam_domain:PF07303,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000323264	.	5/7	.	.	.	.	.	.	.	.	rs766199160	5/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,missense_variant,p.Arg481Lys,ENST00000512803,;MARVELD2,missense_variant,p.Arg365Lys,ENST00000436532,;MARVELD2,missense_variant,p.Arg469Lys,ENST00000454295,;MARVELD2,missense_variant,p.Arg481Lys,ENST00000325631,;MARVELD2,missense_variant,p.Arg365Lys,ENST00000413223,;	1516	73	139	SUCCESS
SLC16A10	117247	.	GRCh37	6	111543223	111543223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	119	0	ENST00000368851.5:c.1333C>A	p.Leu445Met	p.L445M	ENST00000368851	NM_018593.4	445	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS5089.1	1333	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACTGGGC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF119,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000357844	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000368851	Transcript	.	.	ENSG00000112394	17027	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.824)	.	tolerated(0.06)	.	MOT10_HUMAN	SLC16A10	HGNC	Q9P1I2_HUMAN	.	UPI00000497DB	SNV	SLC16A10,missense_variant,p.Leu131Met,ENST00000368850,;SLC16A10,missense_variant,p.Leu445Met,ENST00000368851,;	1508	119	95	SUCCESS
FAM184A	79632	.	GRCh37	6	119296226	119296226	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	59	0	ENST00000338891.7:c.2731A>G	p.Ile911Val	p.I911V	ENST00000338891	NM_024581.4	911	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43499.1	2731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATTTCTT	NONE	.	.	hmmpanther:PTHR18870,hmmpanther:PTHR18870:SF7	.	.	ENSP00000342604	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,missense_variant,p.Ile791Val,ENST00000368475,;FAM184A,missense_variant,p.Ile791Val,ENST00000352896,;FAM184A,missense_variant,p.Ile74Val,ENST00000521043,;FAM184A,missense_variant,p.Ile911Val,ENST00000338891,;FAM184A,missense_variant,p.Ile911Val,ENST00000521531,;FAM184A,upstream_gene_variant,,ENST00000368472,;RP11-351A11.1,intron_variant,,ENST00000518570,;FAM184A,missense_variant,p.Ile166Val,ENST00000475529,;	3175	59	57	SUCCESS
ADGB	79747	.	GRCh37	6	147049813	147049813	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	84	0	ENST00000397944.3:c.2456A>G	p.Asp819Gly	p.D819G	ENST00000397944	NM_024694.3	819	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	.	2456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGATCTGC	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,Gene3D:1.10.490.10	.	.	ENSP00000381036	.	20/36	.	.	.	.	.	.	.	.	.	20/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0.03)	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,missense_variant,p.Asp238Gly,ENST00000367493,;ADGB,missense_variant,p.Asp819Gly,ENST00000397944,;ADGB,missense_variant,p.Asp239Gly,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,downstream_gene_variant,,ENST00000326929,;	2532	84	57	SUCCESS
QKI	9444	.	GRCh37	6	163984603	163984603	+	synonymous_variant	Silent	SNP	C	C	T	rs368366293	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	61	0	ENST00000361752.3:c.786C>T	p.Val262=	p.V262=	ENST00000361752	NM_006775.2	262	gtC/gtT	0	G:0	.	.	.	.	T	V	protein_coding	YES	CCDS5285.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCATGCC	NONE	.	.	hmmpanther:PTHR11208:SF36,hmmpanther:PTHR11208	.	G:0.0001	ENSP00000355094	.	6/8	.	.	.	.	.	.	.	.	rs368366293	6/8	PASS	ENST00000361752	Transcript	.	.	ENSG00000112531	21100	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QKI_HUMAN	QKI	HGNC	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN	.	UPI0000029EBD	SNV	QKI,synonymous_variant,p.%3D,ENST00000544361,;QKI,synonymous_variant,p.%3D,ENST00000424802,;QKI,synonymous_variant,p.%3D,ENST00000361195,;QKI,synonymous_variant,p.%3D,ENST00000453779,;QKI,synonymous_variant,p.%3D,ENST00000537883,;QKI,synonymous_variant,p.%3D,ENST00000275262,;QKI,synonymous_variant,p.%3D,ENST00000392127,;QKI,synonymous_variant,p.%3D,ENST00000361752,;QKI,downstream_gene_variant,,ENST00000544823,;QKI,downstream_gene_variant,,ENST00000537041,;QKI,synonymous_variant,p.%3D,ENST00000361758,;QKI,3_prime_UTR_variant,,ENST00000545607,;QKI,non_coding_transcript_exon_variant,,ENST00000540719,;QKI,upstream_gene_variant,,ENST00000541696,;	1337	61	34	SUCCESS
ZNF391	346157	.	GRCh37	6	27368930	27368930	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	39	135	0	ENST00000244576.4:c.781A>T	p.Ile261Phe	p.I261F	ENST00000244576	NM_001076781.1	261	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS43429.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGATCTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000244576	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000244576	Transcript	.	.	ENSG00000124613	18779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.06)	.	ZN391_HUMAN	ZNF391	HGNC	C9JUF8_HUMAN	.	UPI00001D81D5	SNV	ZNF391,missense_variant,p.Ile261Phe,ENST00000244576,;ZNF391,downstream_gene_variant,,ENST00000461521,;RP1-153G14.4,downstream_gene_variant,,ENST00000607727,;ZNF391,downstream_gene_variant,,ENST00000477999,;	1326	135	180	SUCCESS
OR2J3	442186	.	GRCh37	6	29080176	29080176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	55	120	0	ENST00000377169.1:c.509C>T	p.Pro170Leu	p.P170L	ENST00000377169	NM_001005216.3	170	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43433.1	509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACCTCTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Pro170Leu,ENST00000377169,;	509	120	118	SUCCESS
RXRB	6257	.	GRCh37	6	33164330	33164330	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776600395	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	55	125	0	ENST00000374680.3:c.874G>T	p.Ala292Ser	p.A292S	ENST00000374680	NM_021976.4	292	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS59007.1	874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCCCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083,Superfamily_domains:SSF48508	.	.	ENSP00000363817	.	5/10	.	.	.	.	.	.	.	.	rs776600395	5/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.56)	.	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	SNV	RXRB,missense_variant,p.Ala196Ser,ENST00000413614,;RXRB,missense_variant,p.Ala292Ser,ENST00000374680,;RXRB,missense_variant,p.Ala292Ser,ENST00000374685,;RXRB,missense_variant,p.Ala102Ser,ENST00000544186,;COL11A2,upstream_gene_variant,,ENST00000395197,;SLC39A7,upstream_gene_variant,,ENST00000374675,;COL11A2,upstream_gene_variant,,ENST00000395194,;SLC39A7,upstream_gene_variant,,ENST00000444757,;COL11A2,upstream_gene_variant,,ENST00000361917,;SLC39A7,upstream_gene_variant,,ENST00000374677,;COL11A2,upstream_gene_variant,,ENST00000374712,;COL11A2,upstream_gene_variant,,ENST00000357486,;COL11A2,upstream_gene_variant,,ENST00000374708,;COL11A2,upstream_gene_variant,,ENST00000341947,;COL11A2,upstream_gene_variant,,ENST00000374714,;COL11A2,upstream_gene_variant,,ENST00000374713,;COL11A2,upstream_gene_variant,,ENST00000457788,;RNY4P10,upstream_gene_variant,,ENST00000365571,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,upstream_gene_variant,,ENST00000483821,;	1012	125	119	SUCCESS
MDGA1	266727	.	GRCh37	6	37614119	37614120	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	57	0	ENST00000434837.3:c.2078dup	p.Val695GlyfsTer24	p.V695Gfs*24	ENST00000434837	NM_153487.3	693	atc/atTc	0	.	.	.	.	.	A	I/IX	protein_coding	YES	CCDS47417.1	2078-2079	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCGGGATGGC	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50853	.	.	ENSP00000402584	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	insertion	MDGA1,frameshift_variant,p.Val13GlyfsTer24,ENST00000418178,;MDGA1,frameshift_variant,p.Val695GlyfsTer24,ENST00000505425,;MDGA1,frameshift_variant,p.Val698GlyfsTer24,ENST00000297153,;MDGA1,frameshift_variant,p.Val695GlyfsTer24,ENST00000434837,;MDGA1,non_coding_transcript_exon_variant,,ENST00000510077,;MDGA1,upstream_gene_variant,,ENST00000503419,;MDGA1,frameshift_variant,p.Val47GlyfsTer24,ENST00000502298,;MDGA1,downstream_gene_variant,,ENST00000478143,;	3257-3258	57	70	SUCCESS
SNAP91	9892	.	GRCh37	6	84317435	84317435	+	synonymous_variant	Silent	SNP	A	A	T	rs766101597	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	60	119	0	ENST00000369694.2:c.1005T>A	p.Ser335=	p.S335=	ENST00000369694	NM_001242792.1	335	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47455.1	1005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCAGATGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	13/30	.	.	.	.	.	.	.	.	rs766101597	13/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,synonymous_variant,p.%3D,ENST00000439399,;SNAP91,synonymous_variant,p.%3D,ENST00000195649,;SNAP91,synonymous_variant,p.%3D,ENST00000521931,;SNAP91,synonymous_variant,p.%3D,ENST00000437520,;SNAP91,synonymous_variant,p.%3D,ENST00000521485,;SNAP91,synonymous_variant,p.%3D,ENST00000520302,;SNAP91,synonymous_variant,p.%3D,ENST00000428679,;SNAP91,synonymous_variant,p.%3D,ENST00000520213,;SNAP91,synonymous_variant,p.%3D,ENST00000369694,;SNAP91,synonymous_variant,p.%3D,ENST00000521743,;SNAP91,upstream_gene_variant,,ENST00000369691,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	1322	119	79	SUCCESS
MDFIC	29969	.	GRCh37	7	114563013	114563013	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	68	0	ENST00000393486.1:c.-76C>G		p.*26*	ENST00000393486	NM_001166345.1	84		0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS34737.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACAGCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000257724	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000257724	Transcript	.	.	ENSG00000135272	28870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	tolerated_low_confidence(0.39)	.	.	MDFIC	HGNC	J3KN13_HUMAN,C9J784_HUMAN	.	UPI000013CF80	SNV	MDFIC,missense_variant,p.His84Gln,ENST00000257724,;MDFIC,5_prime_UTR_variant,,ENST00000393486,;MDFIC,5_prime_UTR_variant,,ENST00000448022,;MDFIC,5_prime_UTR_variant,,ENST00000423503,;MDFIC,upstream_gene_variant,,ENST00000427207,;MDFIC,upstream_gene_variant,,ENST00000431629,;	515	68	75	SUCCESS
WDR91	29062	.	GRCh37	7	134896232	134896232	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	74	119	0	ENST00000354475.4:c.23C>T	p.Thr8Ile	p.T8I	ENST00000354475	NM_014149.3	8	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34758.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCAGTGCGC	NONE	.	.	hmmpanther:PTHR13083	.	.	ENSP00000346466	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000354475	Transcript	.	.	ENSG00000105875	24997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.4)	.	WDR91_HUMAN	WDR91	HGNC	.	.	UPI000006F2DE	SNV	WDR91,missense_variant,p.Thr8Ile,ENST00000354475,;WDR91,missense_variant,p.Thr8Ile,ENST00000344400,;WDR91,upstream_gene_variant,,ENST00000423565,;WDR91,upstream_gene_variant,,ENST00000485942,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;	55	119	161	SUCCESS
FAM131B	9715	.	GRCh37	7	143053918	143053918	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	67	0	ENST00000409222.3:c.724T>G	p.Ser242Ala	p.S242A	ENST00000409222	NM_014690.4	242	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS47734.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAAGCTG	NONE	.	.	hmmpanther:PTHR15736:SF9,hmmpanther:PTHR15736,Pfam_domain:PF15010	.	.	ENSP00000410603	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000443739	Transcript	.	.	ENSG00000159784	22202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.21)	.	F131B_HUMAN	FAM131B	HGNC	D3DXE4_HUMAN	.	UPI0001633639	SNV	FAM131B,missense_variant,p.Ser270Ala,ENST00000443739,;FAM131B,missense_variant,p.Ser242Ala,ENST00000409408,;FAM131B,missense_variant,p.Ser242Ala,ENST00000409346,;FAM131B,missense_variant,p.Ser258Ala,ENST00000409578,;FAM131B,missense_variant,p.Ser242Ala,ENST00000409222,;CLCN1,downstream_gene_variant,,ENST00000343257,;FAM131B,3_prime_UTR_variant,,ENST00000410085,;FAM131B,downstream_gene_variant,,ENST00000521347,;FAM131B,downstream_gene_variant,,ENST00000519161,;FAM131B,downstream_gene_variant,,ENST00000519279,;	957	67	67	SUCCESS
DPP6	1804	.	GRCh37	7	154561209	154561209	+	synonymous_variant	Silent	SNP	T	T	C	rs762389893	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	89	0	ENST00000377770.3:c.966T>C	p.Arg322=	p.R322=	ENST00000377770		322	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	.	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGTGTCCC	NONE	.	.	Superfamily_domains:SSF82171,Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	9/26	.	.	.	.	.	.	.	.	rs762389893	9/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,synonymous_variant,p.%3D,ENST00000427557,;DPP6,synonymous_variant,p.%3D,ENST00000377770,;DPP6,synonymous_variant,p.%3D,ENST00000332007,;DPP6,synonymous_variant,p.%3D,ENST00000404039,;	1107	89	96	SUCCESS
GRB10	2887	.	GRCh37	7	50680499	50680499	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	84	0	ENST00000398812.2:c.1133T>A	p.Leu378Ter	p.L378*	ENST00000398812	NM_005311.4	378	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS43582.1	1133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCAACCTC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR11243:SF4,hmmpanther:PTHR11243,PROSITE_profiles:PS50003	.	.	ENSP00000381793	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000398812	Transcript	.	.	ENSG00000106070	4564	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRB10_HUMAN	GRB10	HGNC	Q75MT1_HUMAN,Q75M93_HUMAN	.	UPI000012BA84	SNV	GRB10,stop_gained,p.Leu320Ter,ENST00000406641,;GRB10,stop_gained,p.Leu378Ter,ENST00000398812,;GRB10,stop_gained,p.Leu320Ter,ENST00000398810,;GRB10,stop_gained,p.Leu378Ter,ENST00000401949,;GRB10,stop_gained,p.Leu332Ter,ENST00000357271,;GRB10,stop_gained,p.Leu372Ter,ENST00000403097,;GRB10,stop_gained,p.Leu320Ter,ENST00000407526,;GRB10,stop_gained,p.Leu320Ter,ENST00000402578,;GRB10,stop_gained,p.Leu372Ter,ENST00000439599,;GRB10,stop_gained,p.Leu320Ter,ENST00000402497,;GRB10,stop_gained,p.Leu320Ter,ENST00000335866,;	1164	84	88	SUCCESS
PCLO	27445	.	GRCh37	7	82584100	82584100	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	14	65	0	ENST00000333891.9:c.6169A>T	p.Lys2057Ter	p.K2057*	ENST00000333891	NM_033026.5	2057	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS47630.1	6169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTTCCTTT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,stop_gained,p.Lys2057Ter,ENST00000333891,;PCLO,stop_gained,p.Lys2057Ter,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	6507	65	93	SUCCESS
MED30	90390	.	GRCh37	8	118533157	118533157	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	59	112	0	ENST00000297347.3:c.42G>T	p.Gly14=	p.G14=	ENST00000297347	NM_080651.2	14	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6323.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGCCCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31705	.	.	ENSP00000297347	.	1/4	.	.	.	.	.	.	.	.	COSM237722	1/4	PASS	ENST00000297347	Transcript	.	.	ENSG00000164758	23032	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MED30_HUMAN	MED30	HGNC	.	.	UPI00000369F8	SNV	MED30,synonymous_variant,p.%3D,ENST00000297347,;MED30,synonymous_variant,p.%3D,ENST00000522839,;MED30,non_coding_transcript_exon_variant,,ENST00000519879,;RPS10P16,downstream_gene_variant,,ENST00000483812,;	206	112	117	SUCCESS
TTC16	158248	.	GRCh37	9	130482363	130482363	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759708175	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	37	0	ENST00000373289.3:c.433T>C	p.Cys145Arg	p.C145R	ENST00000373289	NM_144965.1	145	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS6875.1	433	RADIA|MUTECT|MUSE|VARSCANS	.	GACAATGCCTT	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF395,hmmpanther:PTHR23083,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000362386	.	5/14	.	.	.	.	.	.	.	.	rs759708175	5/14	PASS	ENST00000373289	Transcript	.	.	ENSG00000167094	26536	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	TTC16_HUMAN	TTC16	HGNC	.	.	UPI000006FE14	SNV	TTC16,missense_variant,p.Cys145Arg,ENST00000373289,;TTC16,5_prime_UTR_variant,,ENST00000393748,;PTRH1,intron_variant,,ENST00000419060,;PTRH1,upstream_gene_variant,,ENST00000543175,;PTRH1,upstream_gene_variant,,ENST00000423807,;C9orf117,downstream_gene_variant,,ENST00000373293,;PTRH1,intron_variant,,ENST00000429848,;PTRH1,upstream_gene_variant,,ENST00000335223,;TTC16,upstream_gene_variant,,ENST00000488285,;PTRH1,upstream_gene_variant,,ENST00000456267,;PTRH1,upstream_gene_variant,,ENST00000416214,;C9orf117,downstream_gene_variant,,ENST00000464092,;TTC16,upstream_gene_variant,,ENST00000489226,;PTRH1,upstream_gene_variant,,ENST00000414832,;C9orf117,downstream_gene_variant,,ENST00000461104,;	513	37	41	SUCCESS
PRUNE2	158471	.	GRCh37	9	79244125	79244125	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs773859233	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	40	0	ENST00000376718.3:c.9132del	p.Pro3045GlnfsTer11	p.P3045Qfs*11	ENST00000376718	NM_015225.2	3044	atT/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS47982.1	9132	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTGGAATGTG	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF13716,SMART_domains:SM00516	.	.	ENSP00000365908	.	16/19	.	.	.	.	.	.	.	.	rs773859233	16/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	deletion	PRUNE2,frameshift_variant,p.Pro310GlnfsTer11,ENST00000376717,;PRUNE2,frameshift_variant,p.Pro310GlnfsTer9,ENST00000223609,;PRUNE2,frameshift_variant,p.Pro2370GlnfsTer9,ENST00000426088,;PRUNE2,frameshift_variant,p.Pro218GlnfsTer17,ENST00000424866,;PRUNE2,frameshift_variant,p.Pro294GlnfsTer11,ENST00000443509,;PRUNE2,frameshift_variant,p.Pro3045GlnfsTer11,ENST00000376718,;PRUNE2,frameshift_variant,p.Pro2687GlnfsTer11,ENST00000428286,;PRUNE2,intron_variant,,ENST00000466266,;	9256	40	39	SUCCESS
CD99L2	83692	.	GRCh37	X	150067008	150067008	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	50	60	0	ENST00000370377.3:c.54C>A	p.Thr18=	p.T18=	ENST00000370377	NM_031462.3	18	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS35427.1	54	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGGTGGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF13	.	.	ENSP00000359403	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000370377	Transcript	.	.	ENSG00000102181	18237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C99L2_HUMAN	CD99L2	HGNC	.	.	UPI0000034CC0	SNV	CD99L2,synonymous_variant,p.%3D,ENST00000320893,;CD99L2,synonymous_variant,p.%3D,ENST00000437787,;CD99L2,synonymous_variant,p.%3D,ENST00000466436,;CD99L2,synonymous_variant,p.%3D,ENST00000370377,;CD99L2,synonymous_variant,p.%3D,ENST00000355149,;U3,upstream_gene_variant,,ENST00000517200,;CD99L2,non_coding_transcript_exon_variant,,ENST00000346693,;CD99L2,non_coding_transcript_exon_variant,,ENST00000491877,;	172	60	98	SUCCESS
ZNF185	7739	.	GRCh37	X	152113993	152113993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	27	134	1	ENST00000370268.4:c.1391A>G	p.Glu464Gly	p.E464G	ENST00000370268		464	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS55529.1	1487	RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGAGAGTT	NONE	.	.	hmmpanther:PTHR15468:SF2,hmmpanther:PTHR15468	.	.	ENSP00000440847	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.39)	.	deleterious(0.02)	.	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,missense_variant,p.Glu102Gly,ENST00000454925,;ZNF185,missense_variant,p.Glu405Gly,ENST00000318504,;ZNF185,missense_variant,p.Glu496Gly,ENST00000370270,;ZNF185,missense_variant,p.Glu232Gly,ENST00000324823,;ZNF185,missense_variant,p.Glu465Gly,ENST00000449285,;ZNF185,missense_variant,p.Glu464Gly,ENST00000370268,;ZNF185,missense_variant,p.Glu243Gly,ENST00000318529,;ZNF185,missense_variant,p.Glu467Gly,ENST00000539731,;ZNF185,missense_variant,p.Glu496Gly,ENST00000535861,;ZNF185,missense_variant,p.Glu223Gly,ENST00000426821,;ZNF185,intron_variant,,ENST00000447792,;ZNF185,missense_variant,p.Glu467Gly,ENST00000436731,;	1535	135	168	SUCCESS
IRAK1	3654	.	GRCh37	X	153282005	153282005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	52	178	0	ENST00000369980.3:c.1119C>A	p.Ser373Arg	p.S373R	ENST00000369980	NM_001569.3	373	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS14740.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGCTGGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF1,PROSITE_profiles:PS50011	.	.	ENSP00000358997	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000369980	Transcript	.	.	ENSG00000184216	6112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.633)	.	deleterious(0)	.	IRAK1_HUMAN	IRAK1	HGNC	.	.	UPI000012D873	SNV	IRAK1,missense_variant,p.Ser373Arg,ENST00000369980,;IRAK1,missense_variant,p.Ser144Arg,ENST00000443220,;IRAK1,missense_variant,p.Ser399Arg,ENST00000429936,;IRAK1,missense_variant,p.Ser373Arg,ENST00000369974,;IRAK1,missense_variant,p.Ser373Arg,ENST00000393687,;IRAK1,missense_variant,p.Ser399Arg,ENST00000393682,;IRAK1,missense_variant,p.Ser46Arg,ENST00000437278,;IRAK1,intron_variant,,ENST00000444230,;IRAK1,upstream_gene_variant,,ENST00000455690,;IRAK1,upstream_gene_variant,,ENST00000444254,;MIR718,downstream_gene_variant,,ENST00000390190,;IRAK1,non_coding_transcript_exon_variant,,ENST00000477274,;IRAK1,upstream_gene_variant,,ENST00000467236,;IRAK1,3_prime_UTR_variant,,ENST00000369973,;IRAK1,downstream_gene_variant,,ENST00000463031,;	1287	178	234	SUCCESS
ARSH	347527	.	GRCh37	X	2947346	2947346	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	71	151	0	ENST00000381130.2:c.1258C>T	p.His420Tyr	p.H420Y	ENST00000381130	NM_001011719.1	420	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS35198.1	1258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACCACGAG	NONE	.	.	Superfamily_domains:SSF53649,Gene3D:3.40.720.10,Pfam_domain:PF14707,hmmpanther:PTHR10342:SF72,hmmpanther:PTHR10342	.	.	ENSP00000370522	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000381130	Transcript	.	.	ENSG00000205667	32488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	ARSH_HUMAN	ARSH	HGNC	.	.	UPI00001D7C2E	SNV	ARSH,missense_variant,p.His420Tyr,ENST00000381130,;	1258	151	164	SUCCESS
CYBB	1536	.	GRCh37	X	37668941	37668941	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	183	39	159	0	ENST00000378588.4:c.1583C>G	p.Pro528Arg	p.P528R	ENST00000378588	NM_000397.3	528	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS14242.1	1583	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCTAAGT	NONE	.	.	Prints_domain:PR00466,Superfamily_domains:SSF52343,Gene3D:3.40.50.80,Pfam_domain:PF08030,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF47	.	.	ENSP00000367851	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000378588	Transcript	.	.	ENSG00000165168	2578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.213)	.	deleterious(0)	.	CY24B_HUMAN	CYBB	HGNC	G8Z8Y8_HUMAN,F5GWU5_HUMAN	.	UPI0000001628	SNV	CYBB,missense_variant,p.Pro261Arg,ENST00000536160,;CYBB,missense_variant,p.Pro528Arg,ENST00000378588,;CYBB,missense_variant,p.Pro496Arg,ENST00000545017,;TM4SF2,intron_variant,,ENST00000465127,;	1650	159	223	SUCCESS
TRO	7216	.	GRCh37	X	54955556	54955556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	43	102	0	ENST00000173898.7:c.2399G>T	p.Ser800Ile	p.S800I	ENST00000173898	NM_001039705.2	800	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43959.1	2399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGCACCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,missense_variant,p.Ser403Ile,ENST00000375041,;TRO,missense_variant,p.Ser331Ile,ENST00000420798,;TRO,missense_variant,p.Ser800Ile,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000545676,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	2511	102	121	SUCCESS
TBX22	50945	.	GRCh37	X	79282319	79282319	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	55	110	0	ENST00000373294.5:c.750C>T	p.Ser250=	p.S250=	ENST00000373294	NM_016954.2	250	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14445.1	750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTTTAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000362390	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000373294	Transcript	.	.	ENSG00000122145	11600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBX22_HUMAN	TBX22	HGNC	C3TX51_HUMAN	.	UPI00001377ED	SNV	TBX22,synonymous_variant,p.%3D,ENST00000373291,;TBX22,synonymous_variant,p.%3D,ENST00000373294,;TBX22,synonymous_variant,p.%3D,ENST00000442340,;TBX22,synonymous_variant,p.%3D,ENST00000373296,;TBX22,downstream_gene_variant,,ENST00000476373,;	778	110	120	SUCCESS
CCDC147	0	.	GRCh37	10	106153097	106153097	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1226550846	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	82	136	0	ENST00000369704.3:c.1538C>G	p.Thr513Arg	p.T513R	ENST00000369704	NM_001008723.1	513	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS31282.1	1538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAACAGATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF26	.	.	ENSP00000358718	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000369704	Transcript	.	.	ENSG00000120051	26676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.243)	.	deleterious(0.05)	.	CC147_HUMAN	CCDC147	HGNC	B4DK97_HUMAN	.	UPI0000160405	SNV	CCDC147,missense_variant,p.Thr513Arg,ENST00000369704,;	1672	136	200	SUCCESS
PDZD8	118987	.	GRCh37	10	119133943	119133943	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	135	0	ENST00000334464.5:c.796C>T	p.Gln266Ter	p.Q266*	ENST00000334464	NM_173791.3	266	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS7600.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGGGGCA	NONE	.	.	hmmpanther:PTHR21519,hmmpanther:PTHR21519:SF1	.	.	ENSP00000334642	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000334464	Transcript	.	.	ENSG00000165650	26974	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDZD8_HUMAN	PDZD8	HGNC	.	.	UPI00000723CC	SNV	PDZD8,stop_gained,p.Gln266Ter,ENST00000334464,;PDZD8,non_coding_transcript_exon_variant,,ENST00000489491,;	1036	135	110	SUCCESS
SLC39A12	221074	.	GRCh37	10	18250708	18250708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	78	117	0	ENST00000377369.2:c.460G>A	p.Glu154Lys	p.E154K	ENST00000377369	NM_001145195.1	154	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44362.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGAAGAT	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Glu154Lys,ENST00000377369,;SLC39A12,missense_variant,p.Glu20Lys,ENST00000539911,;SLC39A12,missense_variant,p.Glu154Lys,ENST00000377371,;SLC39A12,missense_variant,p.Glu154Lys,ENST00000377374,;	733	117	181	SUCCESS
SVIL	6840	.	GRCh37	10	29782297	29782297	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	34	122	0	ENST00000355867.4:c.3865C>T	p.Leu1289Phe	p.L1289F	ENST00000355867	NM_021738.2	1289	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7164.1	3865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAGCACCG	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28	.	.	ENSP00000364547	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Leu81Phe,ENST00000538146,;SVIL,missense_variant,p.Leu1289Phe,ENST00000355867,;SVIL,missense_variant,p.Leu863Phe,ENST00000375400,;SVIL,missense_variant,p.Leu203Phe,ENST00000535393,;SVIL,missense_variant,p.Leu1289Phe,ENST00000375398,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL,downstream_gene_variant,,ENST00000491872,;	4315	122	104	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37505130	37505130	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	228	141	151	0	ENST00000361713.1:c.2723T>A	p.Ile908Asn	p.I908N	ENST00000361713	NM_052997.2	908	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS7193.1	2723	RADIA|MUTECT|MUSE	.	AAAAATCTTGG	NONE	.	.	.	.	.	ENSP00000354432	.	32/36	.	.	.	.	.	.	.	.	.	32/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,missense_variant,p.Ile1027Asn,ENST00000374660,;ANKRD30A,missense_variant,p.Ile908Asn,ENST00000361713,;ANKRD30A,missense_variant,p.Ile908Asn,ENST00000602533,;	2822	151	369	SUCCESS
RBP3	5949	.	GRCh37	10	48388858	48388858	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782227889	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	121	0	ENST00000224600.4:c.2020C>T	p.Arg674Cys	p.R674C	ENST00000224600	NM_002900.2	674	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS7218.1	2020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCGGTAGG	NONE	byFrequency	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.30.750.44,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	rs782227889	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.689)	.	deleterious(0.01)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.Arg674Cys,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	2134	121	87	SUCCESS
VDAC2	7417	.	GRCh37	10	76980582	76980582	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	100	165	0	ENST00000332211.6:c.438A>G	p.Gly146=	p.G146=	ENST00000332211	NM_003375.3	146	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS53544.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGACCTGC	NONE	.	.	hmmpanther:PTHR11743,hmmpanther:PTHR11743:SF12,Pfam_domain:PF01459,Gene3D:2.40.160.10	.	.	ENSP00000361635	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000313132	Transcript	.	.	ENSG00000165637	12672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VDAC2_HUMAN	VDAC2	HGNC	A2A3S1_HUMAN	.	UPI00004589C0	SNV	VDAC2,synonymous_variant,p.%3D,ENST00000298468,;VDAC2,synonymous_variant,p.%3D,ENST00000332211,;VDAC2,synonymous_variant,p.%3D,ENST00000344036,;VDAC2,synonymous_variant,p.%3D,ENST00000447677,;VDAC2,synonymous_variant,p.%3D,ENST00000543351,;VDAC2,synonymous_variant,p.%3D,ENST00000535553,;VDAC2,synonymous_variant,p.%3D,ENST00000313132,;VDAC2,downstream_gene_variant,,ENST00000413289,;VDAC2,non_coding_transcript_exon_variant,,ENST00000468285,;VDAC2,non_coding_transcript_exon_variant,,ENST00000472137,;VDAC2,non_coding_transcript_exon_variant,,ENST00000498394,;VDAC2,non_coding_transcript_exon_variant,,ENST00000481876,;VDAC2,non_coding_transcript_exon_variant,,ENST00000475142,;VDAC2,downstream_gene_variant,,ENST00000470745,;	732	165	228	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123471213	123471213	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	34	0	ENST00000529750.1:c.578A>G	p.Tyr193Cys	p.Y193C	ENST00000529750	NM_020716.1	193	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS53720.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATATATGA	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,missense_variant,p.Tyr193Cys,ENST00000322282,;GRAMD1B,missense_variant,p.Tyr200Cys,ENST00000456860,;GRAMD1B,missense_variant,p.Tyr189Cys,ENST00000534764,;GRAMD1B,missense_variant,p.Tyr153Cys,ENST00000529432,;GRAMD1B,missense_variant,p.Tyr193Cys,ENST00000529750,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;SF3A3P2,upstream_gene_variant,,ENST00000528675,;	905	34	65	SUCCESS
DDX25	29118	.	GRCh37	11	125774293	125774304	+	5_prime_UTR_variant	5'UTR	DEL	CGCGGGCGCGGA	CGCGGGCGCGGA	-	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	CGCGGGCGCGGA	CGCGGGCGCGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	66	0	ENST00000263576.6:c.-115_-104del		p.*39*	ENST00000263576	NM_013264.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44766.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGTCGCGGGCGCGGACGCGG	NONE	.	.	.	.	.	ENSP00000263576	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000263576	Transcript	.	.	ENSG00000109832	18698	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DDX25_HUMAN	DDX25	HGNC	B4YF11_HUMAN,B1NSN7_HUMAN	.	UPI000018CE78	deletion	DDX25,5_prime_UTR_variant,,ENST00000263576,;PUS3,upstream_gene_variant,,ENST00000227474,;HYLS1,downstream_gene_variant,,ENST00000356438,;DDX25,upstream_gene_variant,,ENST00000530414,;DDX25,upstream_gene_variant,,ENST00000526875,;DDX25,upstream_gene_variant,,ENST00000530129,;PUS3,upstream_gene_variant,,ENST00000529801,;PUS3,upstream_gene_variant,,ENST00000534158,;HYLS1,downstream_gene_variant,,ENST00000425380,;HYLS1,downstream_gene_variant,,ENST00000526028,;RP11-680F20.9,intron_variant,,ENST00000533033,;DDX25,intron_variant,,ENST00000525943,;	36-47	66	46	SUCCESS
EEF1G	1937	.	GRCh37	11	62334458	62334458	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	92	0	ENST00000329251.4:c.677C>T	p.Pro226Leu	p.P226L	ENST00000329251	NM_001404.4	226	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS44626.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGGTTGG	NONE	.	.	hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF161,Superfamily_domains:SSF47616	.	.	ENSP00000331901	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000329251	Transcript	.	.	ENSG00000254772	3213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.06)	.	EF1G_HUMAN	EEF1G	HGNC	Q53YD7_HUMAN,Q2F840_HUMAN	.	UPI00000012C3	SNV	EEF1G,missense_variant,p.Pro276Leu,ENST00000378019,;EEF1G,missense_variant,p.Pro226Leu,ENST00000329251,;EEF1G,downstream_gene_variant,,ENST00000524420,;EEF1G,downstream_gene_variant,,ENST00000532986,;MIR3654,3_prime_UTR_variant,,ENST00000496634,;MIR3654,non_coding_transcript_exon_variant,,ENST00000526409,;EEF1G,non_coding_transcript_exon_variant,,ENST00000525340,;	808	92	88	SUCCESS
TRIM66	9866	.	GRCh37	11	8662363	8662363	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770485121	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	80	0	ENST00000299550.6:c.1124G>A	p.Cys375Tyr	p.C375Y	ENST00000299550	NM_014818.1	375	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	.	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCAGGCC	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121	.	.	ENSP00000384876	.	11/22	.	.	.	.	.	.	.	.	rs770485121	11/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.19)	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Cys373Tyr,ENST00000402157,;TRIM66,missense_variant,p.Cys375Tyr,ENST00000299550,;TRIM66,downstream_gene_variant,,ENST00000529057,;TRIM66,downstream_gene_variant,,ENST00000531498,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	1559	80	50	SUCCESS
CTSC	1075	.	GRCh37	11	88061352	88061352	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	69	0	ENST00000227266.5:c.318+6753T>A		p.*106*	ENST00000227266	NM_001814.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAAAATCAG	NONE	.	.	.	.	.	ENSP00000227266	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000227266	Transcript	.	.	ENSG00000109861	2528	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATC_HUMAN	CTSC	HGNC	I3V9T0_HUMAN	.	UPI000006D22D	SNV	CTSC,missense_variant,p.Phe6Ile,ENST00000528020,;CTSC,missense_variant,p.Phe111Ile,ENST00000524463,;CTSC,missense_variant,p.Phe111Ile,ENST00000529974,;CTSC,intron_variant,,ENST00000527018,;CTSC,intron_variant,,ENST00000227266,;CTSC,non_coding_transcript_exon_variant,,ENST00000393301,;CTSC,intron_variant,,ENST00000533865,;	.	69	90	SUCCESS
MYO1H	283446	.	GRCh37	12	109853348	109853348	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749053878	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	42	38	0	ENST00000310903.5:c.1472C>T	p.Pro491Leu	p.P491L	ENST00000310903		491	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS53826.1	1472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCAAAGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF353,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000439182	.	15/32	.	.	.	.	.	.	.	.	rs749053878	15/32	PASS	ENST00000310903	Transcript	.	.	ENSG00000174527	13879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.66)	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,missense_variant,p.Pro501Leu,ENST00000431443,;MYO1H,missense_variant,p.Pro491Leu,ENST00000310903,;	1578	38	126	SUCCESS
CNTN1	1272	.	GRCh37	12	41421673	41421673	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	46	0	ENST00000347616.1:c.2725C>G	p.Pro909Ala	p.P909A	ENST00000347616		909	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS8737.1	2725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCAAGG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50853	.	.	ENSP00000447006	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Pro909Ala,ENST00000551295,;CNTN1,missense_variant,p.Pro909Ala,ENST00000347616,;CNTN1,missense_variant,p.Pro898Ala,ENST00000348761,;CNTN1,non_coding_transcript_exon_variant,,ENST00000550305,;CNTN1,upstream_gene_variant,,ENST00000548481,;	2842	46	84	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48152383	48152383	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	51	0	ENST00000389212.3:c.-10-34C>A		p.*4*	ENST00000389212				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41775.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAAGGCTGGG	NONE	.	.	.	.	.	ENSP00000395708	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,5_prime_UTR_variant,,ENST00000449771,;RAPGEF3,5_prime_UTR_variant,,ENST00000395358,;SLC48A1,5_prime_UTR_variant,,ENST00000547002,;RAPGEF3,5_prime_UTR_variant,,ENST00000171000,;RAPGEF3,intron_variant,,ENST00000548919,;RAPGEF3,intron_variant,,ENST00000389212,;SLC48A1,intron_variant,,ENST00000548498,;RAPGEF3,intron_variant,,ENST00000549151,;RAPGEF3,upstream_gene_variant,,ENST00000466322,;SLC48A1,upstream_gene_variant,,ENST00000549243,;RAPGEF3,upstream_gene_variant,,ENST00000495953,;RAPGEF3,upstream_gene_variant,,ENST00000405493,;RAPGEF3,upstream_gene_variant,,ENST00000549347,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000547856,;SLC48A1,downstream_gene_variant,,ENST00000552003,;	46	51	30	SUCCESS
TNFRSF1A	7132	.	GRCh37	12	6438604	6438604	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	113	454	1	ENST00000162749.2:c.1242C>T	p.Arg414=	p.R414=	ENST00000162749	NM_001065.3	414	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8542.1	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGCGCCG	NONE	.	.	Superfamily_domains:SSF47986,SMART_domains:SM00005,Pfam_domain:PF00531,Gene3D:1.10.533.10,hmmpanther:PTHR23097:SF110,hmmpanther:PTHR23097,PROSITE_profiles:PS50017	.	.	ENSP00000162749	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000162749	Transcript	.	.	ENSG00000067182	11916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR1A_HUMAN	TNFRSF1A	HGNC	J9PH39_HUMAN,F5H4T5_HUMAN	.	UPI000002CE11	SNV	TNFRSF1A,synonymous_variant,p.%3D,ENST00000162749,;TNFRSF1A,synonymous_variant,p.%3D,ENST00000540022,;PLEKHG6,downstream_gene_variant,,ENST00000011684,;TNFRSF1A,downstream_gene_variant,,ENST00000539372,;PLEKHG6,downstream_gene_variant,,ENST00000304581,;PLEKHG6,downstream_gene_variant,,ENST00000449001,;TNFRSF1A,downstream_gene_variant,,ENST00000366159,;TNFRSF1A,downstream_gene_variant,,ENST00000536194,;PLEKHG6,downstream_gene_variant,,ENST00000396988,;TNFRSF1A,downstream_gene_variant,,ENST00000440083,;TNFRSF1A,downstream_gene_variant,,ENST00000535958,;TNFRSF1A,downstream_gene_variant,,ENST00000543359,;TNFRSF1A,downstream_gene_variant,,ENST00000537842,;TNFRSF1A,downstream_gene_variant,,ENST00000437813,;TNFRSF1A,downstream_gene_variant,,ENST00000538363,;TNFRSF1A,downstream_gene_variant,,ENST00000535038,;TNFRSF1A,3_prime_UTR_variant,,ENST00000543995,;TNFRSF1A,3_prime_UTR_variant,,ENST00000534885,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000536717,;TNFRSF1A,downstream_gene_variant,,ENST00000543048,;	1542	455	276	SUCCESS
NAV3	89795	.	GRCh37	12	78579428	78579428	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201844408	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	141	47	0	ENST00000397909.2:c.5740C>A	p.Arg1914Ser	p.R1914S	ENST00000397909	NM_001024383.1	1914	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS41815.1	5674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGCAGT	BUFFER|p.R1892H|c.5675G>A|4,BUFFER|p.R1914H|c.5741G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	30/39	.	.	.	.	.	.	.	.	rs201844408	30/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.07)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Arg1892Ser,ENST00000536525,;NAV3,missense_variant,p.Arg1914Ser,ENST00000397909,;NAV3,missense_variant,p.Arg514Ser,ENST00000550788,;NAV3,missense_variant,p.Arg1715Ser,ENST00000266692,;NAV3,missense_variant,p.Arg1892Ser,ENST00000228327,;NAV3,missense_variant,p.Arg787Ser,ENST00000552895,;NAV3,non_coding_transcript_exon_variant,,ENST00000552300,;NAV3,non_coding_transcript_exon_variant,,ENST00000548948,;	5847	47	217	SUCCESS
PPFIA2	8499	.	GRCh37	12	81839447	81839447	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1260047014	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	115	88	1	ENST00000549396.1:c.458G>A	p.Arg153Lys	p.R153K	ENST00000549396	NM_003625.3	153	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS55857.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTCTTAGT	NONE	.	.	hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,missense_variant,p.Arg135Lys,ENST00000333447,;PPFIA2,missense_variant,p.Arg79Lys,ENST00000407050,;PPFIA2,missense_variant,p.Arg79Lys,ENST00000443686,;PPFIA2,missense_variant,p.Arg135Lys,ENST00000551442,;PPFIA2,missense_variant,p.Arg153Lys,ENST00000549396,;PPFIA2,missense_variant,p.Arg135Lys,ENST00000549325,;PPFIA2,missense_variant,p.Arg153Lys,ENST00000548586,;PPFIA2,missense_variant,p.Arg153Lys,ENST00000550584,;PPFIA2,missense_variant,p.Arg153Lys,ENST00000552948,;PPFIA2,5_prime_UTR_variant,,ENST00000550359,;PPFIA2,upstream_gene_variant,,ENST00000548790,;RP11-315E17.1,intron_variant,,ENST00000550272,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000548453,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000545296,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000552020,;	619	89	175	SUCCESS
A2ML1	144568	.	GRCh37	12	9013751	9013751	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	139	1	ENST00000299698.7:c.3360T>A	p.Gly1120=	p.G1120=	ENST00000299698	NM_144670.4	1120	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8596.2	3360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTCTACG	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239	.	.	ENSP00000299698	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,synonymous_variant,p.%3D,ENST00000299698,;A2ML1,synonymous_variant,p.%3D,ENST00000541459,;A2ML1,synonymous_variant,p.%3D,ENST00000539547,;A2ML1,downstream_gene_variant,,ENST00000545850,;	3540	140	88	SUCCESS
DCN	1634	.	GRCh37	12	91550965	91550965	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	111	96	1	ENST00000052754.5:c.539A>T	p.Glu180Val	p.E180V	ENST00000052754	NM_001920.3	180	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS9039.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTCTACA	NONE	.	.	hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	.	ENSP00000052754	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000052754	Transcript	.	.	ENSG00000011465	2705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PGS2_HUMAN	DCN	HGNC	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN	.	UPI000013187E	SNV	DCN,missense_variant,p.Glu71Val,ENST00000420120,;DCN,missense_variant,p.Glu71Val,ENST00000228329,;DCN,missense_variant,p.Glu180Val,ENST00000052754,;DCN,missense_variant,p.Glu180Val,ENST00000552962,;DCN,missense_variant,p.Glu180Val,ENST00000393155,;DCN,intron_variant,,ENST00000456569,;DCN,intron_variant,,ENST00000303320,;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000441303,;DCN,intron_variant,,ENST00000425043,;DCN,intron_variant,,ENST00000547568,;DCN,downstream_gene_variant,,ENST00000550563,;DCN,downstream_gene_variant,,ENST00000552145,;DCN,upstream_gene_variant,,ENST00000550758,;DCN,downstream_gene_variant,,ENST00000547937,;DCN,downstream_gene_variant,,ENST00000549513,;	1041	97	173	SUCCESS
PLEKHG7	440107	.	GRCh37	12	93147989	93147989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1385307644	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	44	63	0	ENST00000344636.3:c.439G>A	p.Ala147Thr	p.A147T	ENST00000344636	NM_001004330.2	147	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31873.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGCTGAG	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF8,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000344961	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000344636	Transcript	.	.	ENSG00000187510	33829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	PKHG7_HUMAN	PLEKHG7	HGNC	.	.	UPI00001C1015	SNV	PLEKHG7,missense_variant,p.Ala147Thr,ENST00000344636,;PLEKHG7,downstream_gene_variant,,ENST00000549856,;	623	63	206	SUCCESS
MYO16	23026	.	GRCh37	13	109792761	109792761	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	68	0	ENST00000356711.2:c.4135G>T	p.Ala1379Ser	p.A1379S	ENST00000356711	NM_015011.1	1379	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32008.1	4135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15439	.	.	ENSP00000349145	.	32/35	.	.	.	.	.	.	.	.	COSM1258508	32/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.1)	.	tolerated_low_confidence(0.46)	1	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,missense_variant,p.Ala1379Ser,ENST00000356711,;MYO16,missense_variant,p.Ala1379Ser,ENST00000357550,;	4261	68	46	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679130	37679130	+	synonymous_variant	Silent	SNP	T	T	C	rs1436099085	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	45	73	0	ENST00000379800.3:c.264A>G	p.Leu88=	p.L88=	ENST00000379800	NM_145203.5	88	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9363.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTAGCAC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,synonymous_variant,p.%3D,ENST00000379800,;	674	73	112	SUCCESS
DACH1	1602	.	GRCh37	13	72440446	72440446	+	synonymous_variant	Silent	SNP	G	G	A	rs1367238234	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	36	1	ENST00000305425.4:c.462C>T	p.Ser154=	p.S154=	ENST00000305425	NM_080759.4	154	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS41899.1	462	MUTECT|MUSE	.	CTACTGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577	.	.	ENSP00000304994	.	1/11	.	.	.	.	.	.	.	.	COSM3987452,COSM3987453	1/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,synonymous_variant,p.%3D,ENST00000305425,;DACH1,synonymous_variant,p.%3D,ENST00000313174,;DACH1,synonymous_variant,p.%3D,ENST00000354591,;DACH1,synonymous_variant,p.%3D,ENST00000359684,;	885	37	34	SUCCESS
PTGDR	5729	.	GRCh37	14	52741467	52741467	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	64	0	ENST00000306051.2:c.865G>T	p.Ala289Ser	p.A289S	ENST00000306051	NM_000953.2	289	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9707.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGCATTT	NONE	.	.	Prints_domain:PR00854,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR11866:SF14,hmmpanther:PTHR11866,PROSITE_profiles:PS50262	.	.	ENSP00000303424	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306051	Transcript	.	.	ENSG00000168229	9591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.34)	.	PD2R_HUMAN	PTGDR	HGNC	.	.	UPI000000D994	SNV	PTGDR,missense_variant,p.Ala289Ser,ENST00000306051,;PTGDR,3_prime_UTR_variant,,ENST00000553372,;	967	64	99	SUCCESS
DAAM1	23002	.	GRCh37	14	59730340	59730340	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	50	124	0	ENST00000395125.1:c.145C>T	p.Pro49Ser	p.P49S	ENST00000395125	NM_014992.2	49	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9737.1	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCCTGTG	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,Pfam_domain:PF06371	.	.	ENSP00000378557	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000395125	Transcript	.	.	ENSG00000100592	18142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.63)	.	DAAM1_HUMAN	DAAM1	HGNC	.	.	UPI0000161FAA	SNV	DAAM1,missense_variant,p.Pro49Ser,ENST00000351081,;DAAM1,missense_variant,p.Pro49Ser,ENST00000395125,;DAAM1,missense_variant,p.Pro49Ser,ENST00000556135,;DAAM1,missense_variant,p.Pro49Ser,ENST00000360909,;DAAM1,non_coding_transcript_exon_variant,,ENST00000556596,;	168	124	113	SUCCESS
KCNH5	27133	.	GRCh37	14	63473124	63473124	+	synonymous_variant	Silent	SNP	G	G	A	rs373008977	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	46	0	ENST00000322893.7:c.264C>T	p.Tyr88=	p.Y88=	ENST00000322893	NM_139318.4	88	taC/taT	0	A:0	.	.	.	.	A	Y	protein_coding	YES	CCDS9756.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCGTAGTT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF55785,TIGRFAM_domain:TIGR00229,Pfam_domain:PF13426,Gene3D:3.30.450.20,hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217	.	A:0.0001	ENSP00000321427	.	3/11	.	.	.	.	.	.	.	.	rs373008977	3/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,synonymous_variant,p.%3D,ENST00000394968,;KCNH5,synonymous_variant,p.%3D,ENST00000322893,;KCNH5,synonymous_variant,p.%3D,ENST00000420622,;KCNH5,synonymous_variant,p.%3D,ENST00000394964,;	533	46	58	SUCCESS
LTK	4058	.	GRCh37	15	41796631	41796631	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	74	0	ENST00000263800.6:c.2256-1G>C		p.X752_splice	ENST00000263800	NM_002344.5	752		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10077.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACCTGGGG	NONE	.	.	.	.	.	ENSP00000263800	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263800	Transcript	.	.	ENSG00000062524	6721	.	.	HIGH	18/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,splice_acceptor_variant,,ENST00000561619,;LTK,splice_acceptor_variant,,ENST00000263800,;LTK,splice_acceptor_variant,,ENST00000355166,;LTK,splice_acceptor_variant,,ENST00000453182,;ITPKA,downstream_gene_variant,,ENST00000425927,;ITPKA,downstream_gene_variant,,ENST00000260386,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,downstream_gene_variant,,ENST00000569283,;ITPKA,downstream_gene_variant,,ENST00000491007,;ITPKA,downstream_gene_variant,,ENST00000462816,;	.	74	67	SUCCESS
SLC24A5	283652	.	GRCh37	15	48429129	48429129	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	33	54	0	ENST00000341459.3:c.840A>C	p.Ile280=	p.I280=	ENST00000341459	NM_205850.2	280	atA/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS10128.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATAAGTTT	NONE	.	.	TIGRFAM_domain:TIGR00367,hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846	.	.	ENSP00000341550	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000341459	Transcript	1	.	ENSG00000188467	20611	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKX5_HUMAN	SLC24A5	HGNC	.	.	UPI0000242BC9	SNV	SLC24A5,synonymous_variant,p.%3D,ENST00000341459,;SLC24A5,synonymous_variant,p.%3D,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000324324,;MYEF2,downstream_gene_variant,,ENST00000560172,;MYEF2,downstream_gene_variant,,ENST00000267836,;SLC24A5,non_coding_transcript_exon_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000560530,;MYEF2,downstream_gene_variant,,ENST00000558289,;	913	54	100	SUCCESS
FBN1	2200	.	GRCh37	15	48779389	48779389	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	60	0	ENST00000316623.5:c.3472G>T	p.Glu1158Ter	p.E1158*	ENST00000316623	NM_000138.4	1158	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32232.1	3472	RADIA|MUTECT|MUSE	.	ACATTCATTGA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000325527	.	29/66	.	.	.	.	.	.	.	.	.	29/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,stop_gained,p.Glu1158Ter,ENST00000316623,;FBN1,intron_variant,,ENST00000537463,;	3928	60	74	SUCCESS
DPP8	54878	.	GRCh37	15	65759147	65759147	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	62	0	ENST00000341861.5:c.1742G>C	p.Cys581Ser	p.C581S	ENST00000341861	NM_197960.2	581	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS10207.1	1742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCACAGTGC	NONE	.	.	hmmpanther:PTHR11731:SF98,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171	.	.	ENSP00000339208	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000341861	Transcript	.	.	ENSG00000074603	16490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	tolerated(0.34)	.	DPP8_HUMAN	DPP8	HGNC	H0YN53_HUMAN,H0YMV1_HUMAN	.	UPI00001BFAFE	SNV	DPP8,missense_variant,p.Cys150Ser,ENST00000558559,;DPP8,missense_variant,p.Cys565Ser,ENST00000358939,;DPP8,missense_variant,p.Cys581Ser,ENST00000321147,;DPP8,missense_variant,p.Cys581Ser,ENST00000341861,;DPP8,missense_variant,p.Cys581Ser,ENST00000559233,;DPP8,missense_variant,p.Cys43Ser,ENST00000558786,;DPP8,missense_variant,p.Cys581Ser,ENST00000321118,;DPP8,missense_variant,p.Cys565Ser,ENST00000300141,;DPP8,missense_variant,p.Cys408Ser,ENST00000339244,;DPP8,non_coding_transcript_exon_variant,,ENST00000558363,;DPP8,missense_variant,p.Cys581Ser,ENST00000395652,;DPP8,upstream_gene_variant,,ENST00000560597,;	3323	62	78	SUCCESS
HCN4	10021	.	GRCh37	15	73617688	73617688	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	146	0	ENST00000261917.3:c.1688T>A	p.Met563Lys	p.M563K	ENST00000261917	NM_005477.2	563	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS10248.1	1688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACATCTTG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:3bpzA01,Superfamily_domains:SSF51206	.	.	ENSP00000261917	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,missense_variant,p.Met563Lys,ENST00000261917,;	2682	146	86	SUCCESS
APOBR	55911	.	GRCh37	16	28506821	28506821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	96	353	0	ENST00000431282.1:c.459C>A	p.Ser153Arg	p.S153R	ENST00000431282		153	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS58442.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGGCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15964,hmmpanther:PTHR15964:SF0	.	.	ENSP00000457539	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000564831	Transcript	.	.	ENSG00000184730	24087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.42)	.	deleterious(0.03)	.	APOBR_HUMAN	APOBR	HGNC	.	.	UPI000013EFFC	SNV	APOBR,missense_variant,p.Ser153Arg,ENST00000431282,;APOBR,missense_variant,p.Ser153Arg,ENST00000328423,;APOBR,missense_variant,p.Ser153Arg,ENST00000564831,;CLN3,5_prime_UTR_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000354630,;CLN3,upstream_gene_variant,,ENST00000357857,;IL27,downstream_gene_variant,,ENST00000356897,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000357076,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000359984,;CLN3,upstream_gene_variant,,ENST00000360019,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000535392,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,non_coding_transcript_exon_variant,,ENST00000567160,;CLN3,non_coding_transcript_exon_variant,,ENST00000566816,;CLN3,non_coding_transcript_exon_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000568497,;	492	353	242	SUCCESS
USP7	7874	.	GRCh37	16	9057131	9057131	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750093857	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	40	0	ENST00000344836.4:c.12G>C	p.Gln4His	p.Q4H	ENST00000344836	NM_003470.2	4	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS32385.1	12	MUTECT|MUSE	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000343535	.	1/31	.	.	.	.	.	.	.	.	rs750093857,COSM1380634	1/31	common_in_exac	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0)	.	tolerated_low_confidence(0.56)	0,1	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,missense_variant,p.Gln4His,ENST00000344836,;USP7,intron_variant,,ENST00000569230,;USP7,upstream_gene_variant,,ENST00000566273,;RP11-77H9.8,intron_variant,,ENST00000564485,;USP7,missense_variant,p.Gln4His,ENST00000563961,;	211	41	32	SUCCESS
MYH2	4620	.	GRCh37	17	10443978	10443978	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	30	76	0	ENST00000245503.5:c.941C>G	p.Pro314Arg	p.P314R	ENST00000245503	NM_017534.5	314	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS11156.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGGGTAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,PROSITE_profiles:PS51456	.	.	ENSP00000245503	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.4)	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,missense_variant,p.Pro314Arg,ENST00000245503,;MYH2,missense_variant,p.Pro314Arg,ENST00000532183,;MYH2,missense_variant,p.Pro314Arg,ENST00000397183,;MYH2,downstream_gene_variant,,ENST00000578017,;MYH2,downstream_gene_variant,,ENST00000420805,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,downstream_gene_variant,,ENST00000399342,;	1326	76	37	SUCCESS
WSB1	26118	.	GRCh37	17	25630467	25630467	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766183559	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	74	53	1	ENST00000262394.2:c.284A>T	p.Gln95Leu	p.Q95L	ENST00000262394	NM_015626.8	95	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS11220.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCAGAAAA	NONE	.	.	hmmpanther:PTHR15622:SF12,hmmpanther:PTHR15622,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000262394	.	3/9	.	.	.	.	.	.	.	.	rs766183559	3/9	PASS	ENST00000262394	Transcript	.	.	ENSG00000109046	19221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.3)	.	WSB1_HUMAN	WSB1	HGNC	.	.	UPI0000031568	SNV	WSB1,missense_variant,p.Gln95Leu,ENST00000262394,;WSB1,missense_variant,p.Gln95Leu,ENST00000581185,;WSB1,missense_variant,p.Gln102Leu,ENST00000581440,;WSB1,missense_variant,p.Gln64Leu,ENST00000427287,;WSB1,intron_variant,,ENST00000348811,;WSB1,intron_variant,,ENST00000579733,;WSB1,intron_variant,,ENST00000584114,;WSB1,intron_variant,,ENST00000583193,;WSB1,downstream_gene_variant,,ENST00000583742,;WSB1,downstream_gene_variant,,ENST00000583786,;WSB1,downstream_gene_variant,,ENST00000578312,;WSB1,non_coding_transcript_exon_variant,,ENST00000581089,;WSB1,non_coding_transcript_exon_variant,,ENST00000467843,;WSB1,non_coding_transcript_exon_variant,,ENST00000487603,;WSB1,non_coding_transcript_exon_variant,,ENST00000583096,;WSB1,intron_variant,,ENST00000582208,;WSB1,downstream_gene_variant,,ENST00000584354,;	600	54	119	SUCCESS
SLC13A2	9058	.	GRCh37	17	26822770	26822770	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	37	0	ENST00000314669.5:c.1406C>T	p.Thr469Ile	p.T469I	ENST00000314669	NM_003984.3	469	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS54098.1	1553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACCTTCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF66,hmmpanther:PTHR10283,Pfam_domain:PF00939	.	.	ENSP00000392411	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000444914	Transcript	.	.	ENSG00000007216	10917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	tolerated(0.72)	.	.	SLC13A2	HGNC	.	.	UPI0001986446	SNV	SLC13A2,missense_variant,p.Thr398Ile,ENST00000537681,;SLC13A2,missense_variant,p.Thr426Ile,ENST00000545060,;SLC13A2,missense_variant,p.Thr469Ile,ENST00000314669,;SLC13A2,missense_variant,p.Thr518Ile,ENST00000444914,;SLC13A2,3_prime_UTR_variant,,ENST00000577903,;SLC13A2,3_prime_UTR_variant,,ENST00000459818,;SLC13A2,3_prime_UTR_variant,,ENST00000579281,;RP11-192H23.4,intron_variant,,ENST00000481916,;SLC13A2,downstream_gene_variant,,ENST00000541739,;	1973	37	30	SUCCESS
ABCA9	10350	.	GRCh37	17	67023238	67023238	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	37	0	ENST00000340001.4:c.1929A>T	p.Glu643Asp	p.E643D	ENST00000340001	NM_080283.3	643	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11681.1	1929	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGTTCATC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	.	ENSP00000342216	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,missense_variant,p.Glu643Asp,ENST00000370732,;ABCA9,missense_variant,p.Glu643Asp,ENST00000453985,;ABCA9,missense_variant,p.Glu643Asp,ENST00000340001,;	2141	37	87	SUCCESS
CHMP1B	57132	.	GRCh37	18	11851773	11851773	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	61	0	ENST00000526991.2:c.263T>C	p.Val88Ala	p.V88A	ENST00000526991	NM_020412.4	88	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS54180.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTGACCA	NONE	.	.	hmmpanther:PTHR10476:SF2,hmmpanther:PTHR10476,Pfam_domain:PF03357	.	.	ENSP00000432279	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526991	Transcript	.	.	ENSG00000255112	24287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	CHM1B_HUMAN	CHMP1B	HGNC	B2RA72_HUMAN	.	UPI00000373BD	SNV	CHMP1B,missense_variant,p.Val88Ala,ENST00000526991,;GNAL,intron_variant,,ENST00000535121,;GNAL,intron_variant,,ENST00000585642,;GNAL,intron_variant,,ENST00000334049,;GNAL,intron_variant,,ENST00000269162,;GNAL,intron_variant,,ENST00000423027,;GNAL,intron_variant,,ENST00000590228,;RP11-78A19.3,intron_variant,,ENST00000586474,;CHMP1B,upstream_gene_variant,,ENST00000588284,;	379	61	38	SUCCESS
CDH7	1005	.	GRCh37	18	63547857	63547857	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	70	122	0	ENST00000323011.3:c.2085A>T	p.Arg695=	p.R695=	ENST00000323011	NM_033646.1	695	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11993.1	2085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGACCAGC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000381058	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,synonymous_variant,p.%3D,ENST00000397968,;CDH7,synonymous_variant,p.%3D,ENST00000323011,;	2511	123	177	SUCCESS
PTPRM	5797	.	GRCh37	18	7955137	7955137	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	85	0	ENST00000332175.8:c.857C>T	p.Ala286Val	p.A286V	ENST00000332175	NM_002845.3	286	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS58613.1	857	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGCCCCAC	NONE	.	.	Superfamily_domains:SSF49265,Superfamily_domains:SSF48726,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50853	.	.	ENSP00000463325	.	7/33	.	.	.	.	.	.	.	.	.	7/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.Ala73Val,ENST00000578916,;PTPRM,missense_variant,p.Ala286Val,ENST00000332175,;PTPRM,missense_variant,p.Ala73Val,ENST00000444013,;PTPRM,missense_variant,p.Ala224Val,ENST00000400053,;PTPRM,missense_variant,p.Ala286Val,ENST00000400060,;PTPRM,missense_variant,p.Ala286Val,ENST00000580170,;	1894	85	90	SUCCESS
TWSG1	57045	.	GRCh37	18	9399524	9399524	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	57	0	ENST00000262120.5:c.671A>T	p.Ter224LeuextTer10	p.*224Lext*10	ENST00000262120	NM_020648.5	224	tAa/tTa	0	.	.	.	.	.	T	*/L	protein_coding	YES	CCDS11844.1	671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTAAAGAA	NONE	.	.	.	.	.	ENSP00000262120	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000262120	Transcript	.	.	ENSG00000128791	12429	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TWSG1_HUMAN	TWSG1	HGNC	.	.	UPI0000071AF6	SNV	TWSG1,stop_lost,p.Ter224LeuextTer10,ENST00000262120,;TWSG1,downstream_gene_variant,,ENST00000581641,;TWSG1,3_prime_UTR_variant,,ENST00000583147,;	862	57	49	SUCCESS
DAZAP1	26528	.	GRCh37	19	1429964	1429964	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	110	0	ENST00000233078.4:c.701-2A>C		p.X234_splice	ENST00000233078	NM_018959.2	234		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12065.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTAGGAAT	NONE	.	.	.	.	.	ENSP00000233078	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000233078	Transcript	.	.	ENSG00000071626	2683	.	.	HIGH	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAZP1_HUMAN	DAZAP1	HGNC	Q5IRM7_HUMAN,B3KS63_HUMAN	.	UPI00000728D6	SNV	DAZAP1,splice_acceptor_variant,,ENST00000233078,;DAZAP1,splice_acceptor_variant,,ENST00000336761,;DAZAP1,splice_acceptor_variant,,ENST00000592453,;DAZAP1,splice_acceptor_variant,,ENST00000587079,;DAZAP1,upstream_gene_variant,,ENST00000591999,;DAZAP1,downstream_gene_variant,,ENST00000586579,;DAZAP1,splice_acceptor_variant,,ENST00000585485,;DAZAP1,splice_acceptor_variant,,ENST00000589484,;DAZAP1,upstream_gene_variant,,ENST00000589874,;	.	110	71	SUCCESS
CSNK1G2-AS1	255193	.	GRCh37	19	1952861	1952861	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	51	181	0	ENST00000586395.1:n.1015T>A		p.*339*	ENST00000586395				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12077.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCAGCCCT	NONE	.	.	.	.	.	ENSP00000255641	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000255641	Transcript	.	.	ENSG00000133275	2455	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1G2_HUMAN	CSNK1G2	HGNC	.	.	UPI00000015E2	SNV	CSNK1G2,intron_variant,,ENST00000255641,;CSNK1G2,intron_variant,,ENST00000591752,;CSNK1G2,upstream_gene_variant,,ENST00000589350,;CSNK1G2-AS1,non_coding_transcript_exon_variant,,ENST00000586395,;CSNK1G2-AS1,non_coding_transcript_exon_variant,,ENST00000314315,;CSNK1G2,downstream_gene_variant,,ENST00000587123,;	.	181	127	SUCCESS
ZNF493	284443	.	GRCh37	19	21606246	21606246	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	76	104	0	ENST00000355504.4:c.401A>G	p.Gln134Arg	p.Q134R	ENST00000355504	NM_175910.6	134	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS42536.1	785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACAGAAAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0)	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	SNV	ZNF493,missense_variant,p.Gln134Arg,ENST00000355504,;ZNF493,missense_variant,p.Gln262Arg,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	894	104	201	SUCCESS
RYR1	6261	.	GRCh37	19	38958307	38958307	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773926353	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	121	0	ENST00000359596.3:c.3236C>A	p.Ser1079Tyr	p.S1079Y	ENST00000359596		1079	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS33011.1	3236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCCTATA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Superfamily_domains:SSF49899	.	.	ENSP00000352608	.	25/106	.	.	.	.	.	.	.	.	rs773926353,COSM1712234	25/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.963)	.	.	0,1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ser1079Tyr,ENST00000355481,;RYR1,missense_variant,p.Ser1079Tyr,ENST00000360985,;RYR1,missense_variant,p.Ser1079Tyr,ENST00000359596,;RYR1,non_coding_transcript_exon_variant,,ENST00000594111,;	3236	121	83	SUCCESS
RP3-467K16.2	0	.	GRCh37	1	15655783	15655783	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	116	0	ENST00000428747.1:n.498G>T		p.*166*	ENST00000428747				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACGTCAG	NONE	.	.	.	.	.	ENSP00000365163	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	SNV	FHAD1,intron_variant,,ENST00000375997,;FHAD1,intron_variant,,ENST00000401090,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000358897,;FHAD1,intron_variant,,ENST00000375995,;FHAD1,intron_variant,,ENST00000375998,;FHAD1,intron_variant,,ENST00000375999,;FHAD1,downstream_gene_variant,,ENST00000524761,;RP3-467K16.2,non_coding_transcript_exon_variant,,ENST00000428747,;RP3-467K16.7,downstream_gene_variant,,ENST00000439788,;FHAD1,intron_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000459961,;FHAD1,intron_variant,,ENST00000472131,;FHAD1,intron_variant,,ENST00000375996,;	.	116	95	SUCCESS
PRCC	5546	.	GRCh37	1	156764567	156764567	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	51	90	0	ENST00000271526.4:c.1290G>T	p.Leu430Phe	p.L430F	ENST00000271526	NM_005973.4	430	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1157.1	1290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTGACAGA	NONE	.	.	hmmpanther:PTHR13621,Pfam_domain:PF10253	.	.	ENSP00000271526	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000271526	Transcript	.	.	ENSG00000143294	9343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0.05)	.	PRCC_HUMAN	PRCC	HGNC	.	.	UPI000002EFDB	SNV	PRCC,missense_variant,p.Leu196Phe,ENST00000454659,;PRCC,missense_variant,p.Leu398Phe,ENST00000353233,;PRCC,missense_variant,p.Leu137Phe,ENST00000526188,;PRCC,missense_variant,p.Leu430Phe,ENST00000271526,;PRCC,downstream_gene_variant,,ENST00000491853,;PRCC,non_coding_transcript_exon_variant,,ENST00000459707,;PRCC,upstream_gene_variant,,ENST00000469071,;	1562	90	192	SUCCESS
PTPRC	5788	.	GRCh37	1	198700795	198700795	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	122	76	0	ENST00000442510.2:c.1914G>T	p.Leu638Phe	p.L638F	ENST00000442510		638	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1397.2	1914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGTTGGA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002004,Superfamily_domains:SSF52799	.	.	ENSP00000411355	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Leu475Phe,ENST00000594404,;PTPRC,missense_variant,p.Leu477Phe,ENST00000348564,;PTPRC,missense_variant,p.Leu588Phe,ENST00000352140,;PTPRC,missense_variant,p.Leu524Phe,ENST00000530727,;PTPRC,missense_variant,p.Leu636Phe,ENST00000367376,;PTPRC,missense_variant,p.Leu572Phe,ENST00000367367,;PTPRC,missense_variant,p.Leu638Phe,ENST00000442510,;PTPRC,missense_variant,p.Leu590Phe,ENST00000529828,;	2055	76	194	SUCCESS
CNTN2	6900	.	GRCh37	1	205027137	205027137	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	149	207	0	ENST00000331830.4:c.160del	p.Glu54ArgfsTer22	p.E54Rfs*22	ENST00000331830	NM_005076.3	53	acG/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS1449.1	159	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCCACGGAGGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50835	.	.	ENSP00000330633	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	deletion	CNTN2,frameshift_variant,p.Glu54ArgfsTer22,ENST00000331830,;AL583832.1,upstream_gene_variant,,ENST00000515887,;CNTN2,non_coding_transcript_exon_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000527340,;CNTN2,upstream_gene_variant,,ENST00000481872,;	443	207	398	SUCCESS
FAM177B	400823	.	GRCh37	1	222922851	222922851	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	44	33	0	ENST00000360827.2:c.286A>C	p.Thr96Pro	p.T96P	ENST00000360827		96	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS1535.2	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTACTCAA	NONE	.	.	Pfam_domain:PF14774,hmmpanther:PTHR31206,hmmpanther:PTHR31206:SF4	.	.	ENSP00000414451	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000445590	Transcript	.	.	ENSG00000197520	34395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	tolerated(0.06)	.	F177B_HUMAN	FAM177B	HGNC	A6PVY2_HUMAN,A6PVY1_HUMAN	.	UPI00001D75B4	SNV	FAM177B,missense_variant,p.Thr96Pro,ENST00000445590,;FAM177B,missense_variant,p.Thr96Pro,ENST00000434700,;FAM177B,missense_variant,p.Thr96Pro,ENST00000456298,;FAM177B,missense_variant,p.Thr96Pro,ENST00000360827,;FAM177B,3_prime_UTR_variant,,ENST00000391880,;FAM177B,downstream_gene_variant,,ENST00000460763,;	552	33	83	SUCCESS
COL16A1	1307	.	GRCh37	1	32162681	32162682	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	82	0	ENST00000373672.3:c.746dup	p.Glu250ArgfsTer13	p.E250Rfs*13	ENST00000373672	NM_001856.3	249	cca/ccCa	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS41297.1	746-747	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTCTGGGGG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	8/71	.	.	.	.	.	.	.	.	.	8/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	insertion	COL16A1,frameshift_variant,p.Glu250ArgfsTer13,ENST00000373672,;COL16A1,frameshift_variant,p.Glu250ArgfsTer13,ENST00000373668,;COL16A1,frameshift_variant,p.Glu250ArgfsTer13,ENST00000271069,;COL16A1,upstream_gene_variant,,ENST00000373667,;COL16A1,downstream_gene_variant,,ENST00000532877,;	1263-1264	82	95	SUCCESS
SFPQ	6421	.	GRCh37	1	35653652	35653652	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	45	0	ENST00000357214.5:c.1737G>A	p.Met579Ile	p.M579I	ENST00000357214	NM_005066.2	579	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS388.1	1737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAATCATCAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF42	.	.	ENSP00000349748	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000357214	Transcript	.	.	ENSG00000116560	10774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	tolerated(0.17)	.	SFPQ_HUMAN	SFPQ	HGNC	Q9BSV4_HUMAN	.	UPI00001358B9	SNV	SFPQ,missense_variant,p.Met579Ile,ENST00000357214,;SFPQ,missense_variant,p.Met133Ile,ENST00000470472,;SFPQ,upstream_gene_variant,,ENST00000460428,;	1836	45	59	SUCCESS
PSMB2	5690	.	GRCh37	1	36074978	36074978	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	11	150	0	ENST00000373237.3:c.317G>A	p.Gly106Asp	p.G106D	ENST00000373237	NM_002794.4	106	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS394.1	317	MUTECT|MUSE	.	CATAGCCAGCC	NONE	.	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF6,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	.	ENSP00000362334	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000373237	Transcript	.	.	ENSG00000126067	9539	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PSB2_HUMAN	PSMB2	HGNC	.	.	UPI0000111E4C	SNV	PSMB2,missense_variant,p.Gly106Asp,ENST00000373237,;	729	150	179	SUCCESS
CAMTA1	23261	.	GRCh37	1	7725058	7725058	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	43	165	0	ENST00000303635.7:c.2451A>G	p.Ala817=	p.A817=	ENST00000303635	NM_015215.2	817	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS30576.1	2451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCAGAGAT	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,synonymous_variant,p.%3D,ENST00000303635,;CAMTA1,synonymous_variant,p.%3D,ENST00000439411,;	2658	165	109	SUCCESS
NCOA6	23054	.	GRCh37	20	33328358	33328358	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	41	0	ENST00000359003.2:c.5702C>G	p.Ala1901Gly	p.A1901G	ENST00000359003	NM_014071.3	1901	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS13241.1	5702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGCTGAG	NONE	.	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,missense_variant,p.Ala1901Gly,ENST00000374796,;NCOA6,missense_variant,p.Ala1901Gly,ENST00000359003,;	8273	41	54	SUCCESS
SNRPD3	6634	.	GRCh37	22	24967931	24967931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	75	210	0	ENST00000215829.3:c.367C>A	p.Gln123Lys	p.Q123K	ENST00000215829	NM_001278656.1	123	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS13828.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCAAAAG	NONE	.	.	hmmpanther:PTHR23338,hmmpanther:PTHR23338:SF17	.	.	ENSP00000215829	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000215829	Transcript	.	.	ENSG00000100028	11160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.07)	.	SMD3_HUMAN	SNRPD3	HGNC	.	.	UPI0000021859	SNV	SNRPD3,missense_variant,p.Gln123Lys,ENST00000215829,;SNRPD3,intron_variant,,ENST00000402849,;SNRPD3,missense_variant,p.Gln123Lys,ENST00000404603,;SNRPD3,intron_variant,,ENST00000439775,;	954	210	177	SUCCESS
LIMK2	3985	.	GRCh37	22	31673196	31673196	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	50	0	ENST00000331728.4:c.1773-1087A>G		p.*591*	ENST00000331728	NM_005569.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33637.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCAATACC	NONE	.	.	.	.	.	ENSP00000339916	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000340552	Transcript	.	.	ENSG00000182541	6614	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIMK2_HUMAN	LIMK2	HGNC	B5MC51_HUMAN	.	UPI0000169F37	SNV	LIMK2,3_prime_UTR_variant,,ENST00000340552,;LIMK2,3_prime_UTR_variant,,ENST00000406516,;LIMK2,intron_variant,,ENST00000333611,;LIMK2,intron_variant,,ENST00000331728,;LIMK2,intron_variant,,ENST00000444929,;PIK3IP1,downstream_gene_variant,,ENST00000215912,;PIK3IP1,downstream_gene_variant,,ENST00000441972,;LIMK2,intron_variant,,ENST00000467301,;LIMK2,downstream_gene_variant,,ENST00000482270,;PIK3IP1,downstream_gene_variant,,ENST00000493034,;PIK3IP1,downstream_gene_variant,,ENST00000480654,;	2361	50	16	SUCCESS
KLHDC7B	113730	.	GRCh37	22	50987118	50987118	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	41	91	0	ENST00000395676.2:c.523A>T	p.Lys175Ter	p.K175*	ENST00000395676	NM_138433.3	175	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS14097.2	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAAAGCAG	NONE	.	.	.	.	.	ENSP00000379034	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000395676	Transcript	.	.	ENSG00000130487	25145	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLD7B_HUMAN	KLHDC7B	HGNC	.	.	UPI00005A75D4	SNV	KLHDC7B,stop_gained,p.Lys175Ter,ENST00000395676,;SYCE3,downstream_gene_variant,,ENST00000402753,;SYCE3,downstream_gene_variant,,ENST00000406915,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;	657	91	50	SUCCESS
IL1F10	84639	.	GRCh37	2	113830247	113830247	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	32	0	ENST00000341010.2:c.-28-41C>G		p.*10*	ENST00000341010	NM_173161.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2112.1	.	RADIA|MUTECT|MUSE	.	TTCACCCAGCC	NONE	.	.	.	.	.	ENSP00000376893	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000393197	Transcript	.	.	ENSG00000136697	15552	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL1FA_HUMAN	IL1F10	HGNC	.	.	UPI000003C9C3	SNV	IL1F10,5_prime_UTR_variant,,ENST00000393197,;IL1F10,intron_variant,,ENST00000337569,;IL1F10,intron_variant,,ENST00000341010,;IL1F10,upstream_gene_variant,,ENST00000496265,;	353	32	53	SUCCESS
IL1F10	84639	.	GRCh37	2	113830283	113830283	+	splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	50	0	ENST00000341010.2:c.-28-5A>T		p.*10*	ENST00000341010	NM_173161.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2112.1	.	RADIA|MUTECT|MUSE	.	TCCCCATCAGT	NONE	.	.	.	.	.	ENSP00000376893	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000393197	Transcript	.	.	ENSG00000136697	15552	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL1FA_HUMAN	IL1F10	HGNC	.	.	UPI000003C9C3	SNV	IL1F10,splice_region_variant,,ENST00000337569,;IL1F10,splice_region_variant,,ENST00000341010,;IL1F10,5_prime_UTR_variant,,ENST00000393197,;IL1F10,upstream_gene_variant,,ENST00000496265,;	389	50	74	SUCCESS
MARCH7	0	.	GRCh37	2	160605311	160605311	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	66	0	ENST00000259050.4:c.1510G>A	p.Val504Ile	p.V504I	ENST00000259050	NM_022826.2	504	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS2210.1	1510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGTAGAT	NONE	.	.	hmmpanther:PTHR14471:SF1,hmmpanther:PTHR14471	.	.	ENSP00000259050	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000259050	Transcript	.	.	ENSG00000136536	17393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	MARH7_HUMAN	MARCH7	HGNC	C9J159_HUMAN	.	UPI00000733EE	SNV	MARCH7,missense_variant,p.Val466Ile,ENST00000409591,;MARCH7,missense_variant,p.Val504Ile,ENST00000259050,;MARCH7,missense_variant,p.Val448Ile,ENST00000539065,;MARCH7,missense_variant,p.Val504Ile,ENST00000409175,;MARCH7,upstream_gene_variant,,ENST00000420397,;MARCH7,intron_variant,,ENST00000461582,;MARCH7,downstream_gene_variant,,ENST00000473749,;	1632	66	88	SUCCESS
PLA2R1	22925	.	GRCh37	2	160862301	160862301	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	54	97	0	ENST00000283243.7:c.1696A>C	p.Ser566Arg	p.S566R	ENST00000283243	NM_001195641.1	566	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS33309.1	1696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACTGATCA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.2)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Ser566Arg,ENST00000283243,;PLA2R1,missense_variant,p.Ser566Arg,ENST00000392771,;	1903	97	109	SUCCESS
PXDN	7837	.	GRCh37	2	1668758	1668758	+	synonymous_variant	Silent	SNP	C	C	T	rs191647762	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	64	0	ENST00000252804.4:c.1380G>A	p.Pro460=	p.P460=	ENST00000252804	NM_012293.1	460	ccG/ccA	0	T:0.0095	T:0.0182	.	T:0	.	T	P	protein_coding	YES	CCDS46221.1	1380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGGGTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	T:0.0001	ENSP00000252804	T:0	11/23	.	.	.	.	.	.	.	.	rs191647762	11/23	common_in_exac	ENST00000252804	Transcript	.	T:0.0048	ENSG00000130508	14966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,synonymous_variant,p.%3D,ENST00000252804,;PXDN,synonymous_variant,p.%3D,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,downstream_gene_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;	1431	64	35	SUCCESS
ABCA12	26154	.	GRCh37	2	215838711	215838711	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs760085882	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	38	44	0	ENST00000272895.7:c.5524A>T	p.Thr1842Ser	p.T1842S	ENST00000272895	NM_173076.2	1842	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33372.1	5524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGTGATGG	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	36/53	.	.	.	.	.	.	.	.	rs760085882	36/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.7)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Thr1524Ser,ENST00000389661,;ABCA12,missense_variant,p.Thr1842Ser,ENST00000272895,;	5744	44	84	SUCCESS
ECEL1	9427	.	GRCh37	2	233346546	233346546	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745378093	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	59	233	0	ENST00000304546.1:c.1810G>A	p.Gly604Arg	p.G604R	ENST00000304546	NM_004826.2	604	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2493.1	1810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCGTAGT	NONE	.	.	Prints_domain:PR00786,Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	13/18	.	.	.	.	.	.	.	.	rs745378093	13/18	PASS	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0)	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,missense_variant,p.Gly602Arg,ENST00000409941,;ECEL1,missense_variant,p.Gly604Arg,ENST00000304546,;ECEL1,missense_variant,p.Gly19Arg,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	2021	233	162	SUCCESS
ING5	84289	.	GRCh37	2	242662639	242662639	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1287786813	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	167	0	ENST00000313552.6:c.633G>A	p.Trp211Ter	p.W211*	ENST00000313552	NM_032329.4	211	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS33425.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGGTTTCA	BUFFER|p.H213N|c.637C>A|3	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Pfam_domain:PF00628,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR10333:SF41,hmmpanther:PTHR10333,PROSITE_profiles:PS50016	.	.	ENSP00000322142	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000313552	Transcript	.	.	ENSG00000168395	19421	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ING5_HUMAN	ING5	HGNC	.	.	UPI00000702CD	SNV	ING5,stop_gained,p.Trp211Ter,ENST00000406941,;ING5,stop_gained,p.Trp211Ter,ENST00000313552,;AC114730.11,downstream_gene_variant,,ENST00000435195,;ING5,non_coding_transcript_exon_variant,,ENST00000493578,;ING5,upstream_gene_variant,,ENST00000486061,;ING5,downstream_gene_variant,,ENST00000482774,;ING5,upstream_gene_variant,,ENST00000474238,;ING5,downstream_gene_variant,,ENST00000445620,;ING5,downstream_gene_variant,,ENST00000489509,;	659	167	128	SUCCESS
EPAS1	2034	.	GRCh37	2	46587814	46587814	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	88	192	1	ENST00000263734.3:c.492A>T	p.Thr164=	p.T164=	ENST00000263734	NM_001430.4	164	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1825.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACAGAGCG	NONE	.	.	hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF8,Gene3D:3.30.450.20,Superfamily_domains:SSF55785	.	.	ENSP00000263734	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000263734	Transcript	.	.	ENSG00000116016	3374	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPAS1_HUMAN	EPAS1	HGNC	Q53SM6_HUMAN,C9J9N2_HUMAN,B3KW07_HUMAN	.	UPI000013D44F	SNV	EPAS1,synonymous_variant,p.%3D,ENST00000263734,;EPAS1,synonymous_variant,p.%3D,ENST00000449347,;EPAS1,downstream_gene_variant,,ENST00000475822,;EPAS1,non_coding_transcript_exon_variant,,ENST00000463191,;	1002	193	213	SUCCESS
MTHFD2	10797	.	GRCh37	2	74438882	74438882	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	37	0	ENST00000394053.2:c.778A>C	p.Ile260Leu	p.I260L	ENST00000394053	NM_006636.3	260	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS1935.2	778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGATCACA	NONE	.	.	HAMAP:MF_01576,hmmpanther:PTHR10025:SF29,hmmpanther:PTHR10025,Gene3D:3.40.50.720,Pfam_domain:PF02882,Superfamily_domains:SSF51735,Prints_domain:PR00085	.	.	ENSP00000377617	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000394053	Transcript	.	.	ENSG00000065911	7434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.25)	.	MTDC_HUMAN	MTHFD2	HGNC	Q7Z650_HUMAN,B4DY35_HUMAN,B2R7W0_HUMAN	.	UPI0000208708	SNV	MTHFD2,missense_variant,p.Ile132Leu,ENST00000409804,;MTHFD2,missense_variant,p.Ile260Leu,ENST00000394053,;MTHFD2,missense_variant,p.Ile158Leu,ENST00000264090,;MTHFD2,missense_variant,p.Ile96Leu,ENST00000394050,;MTHFD2,intron_variant,,ENST00000409601,;SLC4A5,downstream_gene_variant,,ENST00000359484,;SLC4A5,downstream_gene_variant,,ENST00000423644,;SLC4A5,downstream_gene_variant,,ENST00000394019,;SLC4A5,downstream_gene_variant,,ENST00000346834,;MTHFD2,downstream_gene_variant,,ENST00000462026,;SLC4A5,downstream_gene_variant,,ENST00000483195,;MTHFD2,downstream_gene_variant,,ENST00000477455,;MTHFD2,3_prime_UTR_variant,,ENST00000470592,;MTHFD2,3_prime_UTR_variant,,ENST00000489041,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;	858	37	58	SUCCESS
AC008268.2	0	.	GRCh37	2	96459885	96459885	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	80	0	ENST00000471661.1:n.584G>A		p.*195*	ENST00000471661				0	.	.	.	.	.	A	.	retained_intron	YES	.	.	RADIA|VARSCANS	.	CCTGGGTCACA	NONE	.	.	.	.	.	.	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000471661	Transcript	.	.	ENSG00000237510	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC008268.2	Clone_based_vega_gene	.	.	.	SNV	AC008268.2,non_coding_transcript_exon_variant,,ENST00000471661,;AC008268.2,non_coding_transcript_exon_variant,,ENST00000444924,;	584	80	104	SUCCESS
GPAT2	150763	.	GRCh37	2	96696190	96696190	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	46	0	ENST00000359548.4:c.449G>A	p.Gly150Asp	p.G150D	ENST00000359548	NM_207328.2	150	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS42714.1	449	RADIA|VARSCANS	.	TGTGACCCAGG	NONE	.	.	hmmpanther:PTHR12563:SF7,hmmpanther:PTHR12563,Superfamily_domains:0039877	.	.	ENSP00000389395	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000434632	Transcript	.	.	ENSG00000186281	27168	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.23)	.	GPAT2_HUMAN	GPAT2	HGNC	C9JYV5_HUMAN	.	UPI0000E5E123	SNV	GPAT2,missense_variant,p.Gly150Asp,ENST00000439254,;GPAT2,missense_variant,p.Gly150Asp,ENST00000377137,;GPAT2,missense_variant,p.Gly150Asp,ENST00000359548,;GPAT2,missense_variant,p.Gly150Asp,ENST00000453542,;GPAT2,missense_variant,p.Gly150Asp,ENST00000434632,;GPAT2,downstream_gene_variant,,ENST00000488515,;GPAT2,downstream_gene_variant,,ENST00000468438,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;	909	46	45	SUCCESS
KANSL3	55683	.	GRCh37	2	97302698	97302698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	67	189	0	ENST00000431828.1:c.175A>G	p.Met59Val	p.M59V	ENST00000431828		59	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS46361.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCATGCGGG	NONE	.	.	hmmpanther:PTHR13136	.	.	ENSP00000396749	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000431828	Transcript	.	.	ENSG00000114982	25473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	tolerated(0.24)	.	KANL3_HUMAN	KANSL3	HGNC	F8WEN2_HUMAN,B4E1W4_HUMAN	.	UPI0000207C82	SNV	KANSL3,missense_variant,p.Met59Val,ENST00000431828,;KANSL3,5_prime_UTR_variant,,ENST00000599854,;KANSL3,5_prime_UTR_variant,,ENST00000435669,;KANSL3,5_prime_UTR_variant,,ENST00000440133,;KANSL3,5_prime_UTR_variant,,ENST00000441706,;KANSL3,intron_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000475820,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,missense_variant,p.Met59Val,ENST00000597150,;KANSL3,missense_variant,p.Met59Val,ENST00000354204,;KANSL3,missense_variant,p.Met59Val,ENST00000425656,;KANSL3,missense_variant,p.Met59Val,ENST00000444759,;KANSL3,missense_variant,p.Met59Val,ENST00000420155,;KANSL3,missense_variant,p.Met59Val,ENST00000452268,;KANSL3,missense_variant,p.Met59Val,ENST00000416138,;KANSL3,missense_variant,p.Met59Val,ENST00000451819,;KANSL3,non_coding_transcript_exon_variant,,ENST00000478492,;KANSL3,intron_variant,,ENST00000418735,;	252	189	169	SUCCESS
DPPA4	55211	.	GRCh37	3	109049584	109049584	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	83	201	0	ENST00000335658.6:c.466A>C	p.Thr156Pro	p.T156P	ENST00000335658	NM_018189.3	156	Acg/Ccg	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS33814.1	466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGTTTCCC	NONE	.	.	hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF8	.	.	ENSP00000335306	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000335658	Transcript	.	.	ENSG00000121570	19200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.28)	.	DPPA4_HUMAN	DPPA4	HGNC	C9J7A7_HUMAN	.	UPI000022C153	SNV	DPPA4,missense_variant,p.Thr156Pro,ENST00000335658,;DPPA4,downstream_gene_variant,,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000478791,;DPPA4,intron_variant,,ENST00000463966,;DPPA4,3_prime_UTR_variant,,ENST00000495679,;DPPA4,non_coding_transcript_exon_variant,,ENST00000487299,;DPPA4,non_coding_transcript_exon_variant,,ENST00000475135,;DPPA4,downstream_gene_variant,,ENST00000489281,;	521	201	185	SUCCESS
FAM131A	131408	.	GRCh37	3	184062581	184062581	+	synonymous_variant	Silent	SNP	G	G	T	rs145026576	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	102	0	ENST00000310585.4:c.831G>T	p.Ser277=	p.S277=	ENST00000310585		277	tcG/tcT	0	A:0	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS3262.2	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCGCCCCT	CODON|p.S308S|c.924G>A|3,CODON|p.S277S|c.831G>A|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15736:SF4,hmmpanther:PTHR15736,Pfam_domain:PF15010	A:0.002	A:0.0001	ENSP00000373360	A:0	6/6	.	.	.	.	.	.	.	.	rs145026576,COSM1251750,COSM1251749	6/6	PASS	ENST00000383847	Transcript	.	A:0.0004	ENSG00000175182	28308	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0	.	0,1,1	F131A_HUMAN	FAM131A	HGNC	C9JY59_HUMAN,C9JP51_HUMAN	.	UPI0000EE22AD	SNV	FAM131A,synonymous_variant,p.%3D,ENST00000340957,;FAM131A,synonymous_variant,p.%3D,ENST00000418768,;FAM131A,synonymous_variant,p.%3D,ENST00000453072,;FAM131A,synonymous_variant,p.%3D,ENST00000383847,;FAM131A,synonymous_variant,p.%3D,ENST00000310585,;FAM131A,synonymous_variant,p.%3D,ENST00000418281,;FAM131A,synonymous_variant,p.%3D,ENST00000450976,;EIF2B5,intron_variant,,ENST00000444495,;CLCN2,downstream_gene_variant,,ENST00000434054,;CLCN2,downstream_gene_variant,,ENST00000265593,;FAM131A,downstream_gene_variant,,ENST00000433578,;CLCN2,downstream_gene_variant,,ENST00000344937,;CLCN2,downstream_gene_variant,,ENST00000457512,;CLCN2,downstream_gene_variant,,ENST00000423355,;FAM131A,downstream_gene_variant,,ENST00000487702,;FAM131A,downstream_gene_variant,,ENST00000497070,;CLCN2,downstream_gene_variant,,ENST00000430397,;	1103	102	72	SUCCESS
LMLN	89782	.	GRCh37	3	197765494	197765494	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	64	66	0	ENST00000330198.4:c.1924C>G	p.Leu642Val	p.L642V	ENST00000330198	NM_033029.3	642	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS46988.1	2035	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATCTGTTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10942	.	.	ENSP00000410926	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000420910	Transcript	.	.	ENSG00000185621	15991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	LMLN_HUMAN	LMLN	HGNC	B4DR62_HUMAN	.	UPI000192C367	SNV	LMLN,missense_variant,p.Leu590Val,ENST00000332636,;LMLN,missense_variant,p.Leu627Val,ENST00000482695,;LMLN,missense_variant,p.Leu642Val,ENST00000330198,;LMLN,missense_variant,p.Leu679Val,ENST00000420910,;LMLN-AS1,non_coding_transcript_exon_variant,,ENST00000423460,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;	2035	66	142	SUCCESS
MIR425	494337	.	GRCh37	3	49057667	49057667	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	32	75	0	ENST00000362162.1:n.1G>C		p.*1*	ENST00000362162				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33754.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCCATTC	NONE	.	1663	.	.	.	ENSP00000344989	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341949	Transcript	.	.	ENSG00000178149	25536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DALD3_HUMAN	DALRD3	HGNC	.	.	UPI00000622F0	SNV	DALRD3,intron_variant,,ENST00000313778,;DALRD3,intron_variant,,ENST00000440857,;IMPDH2,downstream_gene_variant,,ENST00000429182,;WDR6,downstream_gene_variant,,ENST00000395474,;WDR6,downstream_gene_variant,,ENST00000448293,;WDR6,downstream_gene_variant,,ENST00000415265,;NDUFAF3,upstream_gene_variant,,ENST00000326925,;NDUFAF3,upstream_gene_variant,,ENST00000326912,;DALRD3,upstream_gene_variant,,ENST00000420952,;IMPDH2,downstream_gene_variant,,ENST00000326739,;DALRD3,upstream_gene_variant,,ENST00000438585,;DALRD3,upstream_gene_variant,,ENST00000441576,;WDR6,downstream_gene_variant,,ENST00000608424,;DALRD3,upstream_gene_variant,,ENST00000395462,;DALRD3,upstream_gene_variant,,ENST00000341949,;NDUFAF3,upstream_gene_variant,,ENST00000395458,;NDUFAF3,upstream_gene_variant,,ENST00000451378,;MIR425,non_coding_transcript_exon_variant,,ENST00000362162,;MIR191,downstream_gene_variant,,ENST00000384873,;DALRD3,intron_variant,,ENST00000492585,;DALRD3,intron_variant,,ENST00000496568,;WDR6,downstream_gene_variant,,ENST00000452875,;IMPDH2,downstream_gene_variant,,ENST00000463903,;IMPDH2,downstream_gene_variant,,ENST00000484872,;IMPDH2,downstream_gene_variant,,ENST00000481274,;IMPDH2,downstream_gene_variant,,ENST00000472328,;NDUFAF3,upstream_gene_variant,,ENST00000480392,;NDUFAF3,upstream_gene_variant,,ENST00000496152,;DALRD3,upstream_gene_variant,,ENST00000498794,;DALRD3,upstream_gene_variant,,ENST00000481001,;WDR6,downstream_gene_variant,,ENST00000471162,;DALRD3,upstream_gene_variant,,ENST00000467457,;DALRD3,upstream_gene_variant,,ENST00000484831,;DALRD3,upstream_gene_variant,,ENST00000472331,;DALRD3,upstream_gene_variant,,ENST00000498498,;IMPDH2,downstream_gene_variant,,ENST00000466147,;DALRD3,upstream_gene_variant,,ENST00000460505,;WDR6,downstream_gene_variant,,ENST00000420783,;	.	75	95	SUCCESS
FEZF2	55079	.	GRCh37	3	62358217	62358217	+	synonymous_variant	Silent	SNP	G	G	A	rs1236532156	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	98	0	ENST00000283268.3:c.327C>T	p.Gly109=	p.G109=	ENST00000283268	NM_018008.3	109	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2897.1	327	MUTECT|MUSE	.	CCACCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228	.	.	ENSP00000283268	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,synonymous_variant,p.%3D,ENST00000283268,;FEZF2,synonymous_variant,p.%3D,ENST00000475839,;FEZF2,synonymous_variant,p.%3D,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	622	98	53	SUCCESS
FAM114A1	92689	.	GRCh37	4	38933200	38933201	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	199	74	160	0	ENST00000358869.2:c.1295dup	p.Glu433GlyfsTer6	p.E433Gfs*6	ENST00000358869	NM_138389.2	430	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS3447.1	1290-1291	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGACAAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12842:SF4,hmmpanther:PTHR12842	.	.	ENSP00000351740	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000358869	Transcript	.	.	ENSG00000197712	25087	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NXP20_HUMAN	FAM114A1	HGNC	Q6MZV4_HUMAN,D6R9C9_HUMAN,B3KSS5_HUMAN	.	UPI00001DFE17	insertion	FAM114A1,frameshift_variant,p.Glu433GlyfsTer6,ENST00000358869,;FAM114A1,frameshift_variant,p.Glu226GlyfsTer6,ENST00000515037,;FAM114A1,upstream_gene_variant,,ENST00000513966,;FAM114A1,non_coding_transcript_exon_variant,,ENST00000508737,;FAM114A1,downstream_gene_variant,,ENST00000512889,;	1466-1467	160	273	SUCCESS
SH3TC1	54436	.	GRCh37	4	8220023	8220023	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	103	0	ENST00000245105.3:c.865C>G	p.Pro289Ala	p.P289A	ENST00000245105	NM_018986.3	289	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS3399.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCCCATC	NONE	.	.	Superfamily_domains:SSF50044,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3	.	.	ENSP00000245105	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000245105	Transcript	.	.	ENSG00000125089	26009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.09)	.	S3TC1_HUMAN	SH3TC1	HGNC	F5GXD3_HUMAN,E7EQR1_HUMAN,D6RC98_HUMAN	.	UPI000013CB93	SNV	SH3TC1,missense_variant,p.Pro289Ala,ENST00000245105,;SH3TC1,missense_variant,p.Pro98Ala,ENST00000508641,;SH3TC1,missense_variant,p.Pro213Ala,ENST00000539824,;SH3TC1,downstream_gene_variant,,ENST00000509119,;SH3TC1,downstream_gene_variant,,ENST00000503284,;SH3TC1,synonymous_variant,p.%3D,ENST00000502669,;SH3TC1,3_prime_UTR_variant,,ENST00000507891,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000512100,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;	932	103	70	SUCCESS
PURA	5813	.	GRCh37	5	139494428	139494428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	61	165	1	ENST00000331327.3:c.662G>A	p.Gly221Asp	p.G221D	ENST00000331327	NM_005859.4	221	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4220.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGGCACCT	NONE	.	.	hmmpanther:PTHR12611,hmmpanther:PTHR12611:SF2,Pfam_domain:PF04845,SMART_domains:SM00712	.	.	ENSP00000332706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331327	Transcript	1	.	ENSG00000185129	9701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PURA_HUMAN	PURA	HGNC	.	.	UPI0000132B76	SNV	PURA,missense_variant,p.Gly221Asp,ENST00000331327,;PURA,downstream_gene_variant,,ENST00000505703,;PURA,downstream_gene_variant,,ENST00000502351,;	721	166	142	SUCCESS
OR2Y1	134083	.	GRCh37	5	180166888	180166888	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	117	0	ENST00000307832.2:c.171A>G	p.Thr57=	p.T57=	ENST00000307832	NM_001001657.1	57	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS34323.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGTGTGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000312403	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307832	Transcript	.	.	ENSG00000174339	14837	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2Y1_HUMAN	OR2Y1	HGNC	.	.	UPI0000041BCE	SNV	OR2Y1,synonymous_variant,p.%3D,ENST00000307832,;	212	117	107	SUCCESS
OR2V2	285659	.	GRCh37	5	180582886	180582886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	79	0	ENST00000328275.1:c.944A>G	p.His315Arg	p.H315R	ENST00000328275	NM_206880.1	315	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4461.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCACTGAA	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235	.	.	ENSP00000332185	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328275	Transcript	.	.	ENSG00000182613	15341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.28)	.	OR2V2_HUMAN	OR2V2	HGNC	.	.	UPI0000041C79	SNV	OR2V2,missense_variant,p.His315Arg,ENST00000328275,;	944	79	77	SUCCESS
NADK2	133686	.	GRCh37	5	36197768	36197768	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	24	1	ENST00000381937.4:c.1067-2A>G		p.X356_splice	ENST00000381937	NM_001085411.1	356		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47197.1	.	SOMATICSNIPER|VARSCANS	.	GTTACTACAAA	NONE	.	.	.	.	.	ENSP00000371362	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381937	Transcript	.	.	ENSG00000152620	26404	.	.	HIGH	10/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAKD2_HUMAN	NADK2	HGNC	Q49AR0_HUMAN,D6RHI4_HUMAN	.	UPI000150640C	SNV	NADK2,splice_acceptor_variant,,ENST00000502355,;NADK2,splice_acceptor_variant,,ENST00000282512,;NADK2,splice_acceptor_variant,,ENST00000506945,;NADK2,splice_acceptor_variant,,ENST00000397338,;NADK2,splice_acceptor_variant,,ENST00000514504,;NADK2,splice_acceptor_variant,,ENST00000381937,;NADK2,splice_acceptor_variant,,ENST00000511613,;NADK2,splice_acceptor_variant,,ENST00000509225,;NADK2,splice_acceptor_variant,,ENST00000404560,;	.	25	59	SUCCESS
MAP3K5	4217	.	GRCh37	6	136922157	136922157	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	29	65	1	ENST00000359015.4:c.2878+3G>A		p.X960_splice	ENST00000359015	NM_005923.3	960		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5179.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	AAACTCACCAT	NONE	.	.	.	.	.	ENSP00000351908	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359015	Transcript	.	.	ENSG00000197442	6857	.	.	LOW	21/29	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	M3K5_HUMAN	MAP3K5	HGNC	A6NIA0_HUMAN	.	UPI000012EAD5	SNV	MAP3K5,splice_region_variant,,ENST00000355845,;MAP3K5,splice_region_variant,,ENST00000359015,;	.	66	44	SUCCESS
EYS	346007	.	GRCh37	6	64499079	64499079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	49	0	ENST00000370616.2:c.7450A>G	p.Asn2484Asp	p.N2484D	ENST00000370616		2484	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS47445.1	7450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATTGAGCA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000424243	.	38/43	.	.	.	.	.	.	.	.	.	38/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.15)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Asn2484Asp,ENST00000370616,;EYS,missense_variant,p.Asn256Asp,ENST00000398580,;EYS,missense_variant,p.Asn2484Asp,ENST00000370621,;EYS,missense_variant,p.Asn2484Asp,ENST00000503581,;EYS,non_coding_transcript_exon_variant,,ENST00000486069,;	7988	49	69	SUCCESS
CPA1	1357	.	GRCh37	7	130020953	130020953	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs547564304	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	89	325	0	ENST00000011292.3:c.80G>C	p.Arg27Pro	p.R27P	ENST00000011292	NM_001868.2	27	cGa/cCa	0	.	C:0.0008	.	C:0	.	C	R/P	protein_coding	YES	CCDS5820.1	80	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGAATCT	NONE	by1000G	.	Superfamily_domains:SSF54897,Gene3D:3.30.70.340,Pfam_domain:PF02244,hmmpanther:PTHR11705:SF15,hmmpanther:PTHR11705	C:0	.	ENSP00000011292	C:0	2/10	.	.	.	.	.	.	.	.	rs547564304,COSM2770060	2/10	PASS	ENST00000011292	Transcript	.	C:0.0002	ENSG00000091704	2296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	C:0	deleterious(0)	0,1	CBPA1_HUMAN	CPA1	HGNC	C9JUZ4_HUMAN,C9JUF9_HUMAN,C9JQ63_HUMAN	.	UPI000004D332	SNV	CPA1,missense_variant,p.Arg36Pro,ENST00000604896,;CPA1,missense_variant,p.Arg27Pro,ENST00000011292,;CPA1,5_prime_UTR_variant,,ENST00000484324,;CPA1,5_prime_UTR_variant,,ENST00000476062,;CPA1,5_prime_UTR_variant,,ENST00000481342,;CPA1,non_coding_transcript_exon_variant,,ENST00000491460,;CPA1,upstream_gene_variant,,ENST00000478096,;CPA1,upstream_gene_variant,,ENST00000479106,;CPA1,upstream_gene_variant,,ENST00000470838,;	230	325	246	SUCCESS
HOXA7	3204	.	GRCh37	7	27196172	27196172	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	171	0	ENST00000242159.3:c.-8T>A		p.*3*	ENST00000242159	NM_006896.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGACCTGT	NONE	.	.	.	.	.	ENSP00000242159	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000242159	Transcript	.	.	ENSG00000122592	5108	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA7_HUMAN	HOXA7	HGNC	E5RHM9_HUMAN	.	UPI000013CAF3	SNV	HOXA7,5_prime_UTR_variant,,ENST00000242159,;HOXA7,5_prime_UTR_variant,,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;HOXA7,upstream_gene_variant,,ENST00000523796,;HOXA3,upstream_gene_variant,,ENST00000518451,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;	127	171	109	SUCCESS
SDK1	221935	.	GRCh37	7	4014141	4014141	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	92	0	ENST00000404826.2:c.1958G>C	p.Gly653Ala	p.G653A	ENST00000404826	NM_152744.3	653	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS34590.1	1958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAGGGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	13/45	.	.	.	.	.	.	.	.	.	13/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	tolerated(0.11)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Gly653Ala,ENST00000404826,;SDK1,missense_variant,p.Gly653Ala,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000484011,;	2097	92	103	SUCCESS
AP5Z1	9907	.	GRCh37	7	4825922	4825922	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	121	0	ENST00000348624.4:c.1174C>A	p.Leu392Met	p.L392M	ENST00000348624	NM_014855.2	392	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS47528.1	1174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCTGTTC	NONE	.	.	hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Pfam_domain:PF14764	.	.	ENSP00000297562	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000348624	Transcript	.	.	ENSG00000242802	22197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	AP5Z1_HUMAN	AP5Z1	HGNC	A4D1Z4_HUMAN	.	UPI00003E5903	SNV	AP5Z1,missense_variant,p.Leu392Met,ENST00000348624,;AP5Z1,missense_variant,p.Leu392Met,ENST00000401897,;MIR4656,downstream_gene_variant,,ENST00000579503,;AP5Z1,upstream_gene_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,upstream_gene_variant,,ENST00000477454,;AP5Z1,downstream_gene_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000469614,;	1268	121	84	SUCCESS
COBL	23242	.	GRCh37	7	51096609	51096609	+	synonymous_variant	Silent	SNP	G	G	A	rs772330553	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	116	0	ENST00000265136.7:c.2184C>T	p.Thr728=	p.T728=	ENST00000265136	NM_015198.3	728	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34637.1	2184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGGTGGA	SITE|p.T728T|c.2184C>T|4	byFrequency	.	hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	.	.	ENSP00000265136	.	10/13	.	.	.	.	.	.	.	.	rs772330553,COSM253700,COSM3881681	10/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,synonymous_variant,p.%3D,ENST00000431948,;COBL,synonymous_variant,p.%3D,ENST00000265136,;COBL,synonymous_variant,p.%3D,ENST00000395542,;COBL,synonymous_variant,p.%3D,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	2350	116	102	SUCCESS
HEATR2	0	.	GRCh37	7	794224	794224	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	67	228	0	ENST00000297440.6:c.1025-2A>G		p.X342_splice	ENST00000297440	NM_017802.3	342		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34580.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCAGAGCG	NONE	.	.	.	.	.	ENSP00000297440	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297440	Transcript	.	.	ENSG00000164818	26013	.	.	HIGH	4/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEAT2_HUMAN	HEATR2	HGNC	.	.	UPI0000D61BE2	SNV	HEATR2,splice_acceptor_variant,,ENST00000313147,;HEATR2,splice_acceptor_variant,,ENST00000440747,;HEATR2,splice_acceptor_variant,,ENST00000437419,;HEATR2,splice_acceptor_variant,,ENST00000297440,;HEATR2,downstream_gene_variant,,ENST00000438961,;	.	228	171	SUCCESS
GNAT3	346562	.	GRCh37	7	80103624	80103624	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs879833721	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	41	0	ENST00000398291.3:c.533G>A	p.Arg178Gln	p.R178Q	ENST00000398291	NM_001102386.1	178	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS47625.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTCGAGAA	NONE	.	.	Prints_domain:PR00318,Superfamily_domains:SSF52540,Superfamily_domains:SSF47895,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:1.10.400.10,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	.	.	ENSP00000381339	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000398291	Transcript	.	.	ENSG00000214415	22800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	deleterious(0)	.	GNAT3_HUMAN	GNAT3	HGNC	.	.	UPI0000198E14	SNV	GNAT3,missense_variant,p.Arg178Gln,ENST00000398291,;CD36,intron_variant,,ENST00000435819,;	627	41	56	SUCCESS
DYNC1I1	1780	.	GRCh37	7	95665003	95665003	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748814410	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	60	0	ENST00000324972.6:c.1354G>A	p.Val452Ile	p.V452I	ENST00000324972	NM_004411.4	452	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS5644.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGTCAAT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000320130	.	13/17	.	.	.	.	.	.	.	.	rs748814410	13/17	PASS	ENST00000324972	Transcript	.	.	ENSG00000158560	2963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.09)	.	DC1I1_HUMAN	DYNC1I1	HGNC	Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN	.	UPI0000129A01	SNV	DYNC1I1,missense_variant,p.Val415Ile,ENST00000359388,;DYNC1I1,missense_variant,p.Val435Ile,ENST00000457059,;DYNC1I1,missense_variant,p.Val432Ile,ENST00000437599,;DYNC1I1,missense_variant,p.Val435Ile,ENST00000447467,;DYNC1I1,missense_variant,p.Val415Ile,ENST00000537881,;DYNC1I1,missense_variant,p.Val452Ile,ENST00000324972,;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000497626,;	1547	60	142	SUCCESS
ADAM7	8756	.	GRCh37	8	24349552	24349552	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	53	0	ENST00000175238.6:c.1493A>G	p.Tyr498Cys	p.Y498C	ENST00000175238	NM_003817.3	498	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6045.1	1493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTACTGTT	NONE	.	.	hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000175238	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000175238	Transcript	.	.	ENSG00000069206	214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADAM7_HUMAN	ADAM7	HGNC	.	.	UPI000013C5CC	SNV	ADAM7,missense_variant,p.Tyr498Cys,ENST00000175238,;ADAM7,missense_variant,p.Tyr270Cys,ENST00000520720,;ADAM7,missense_variant,p.Tyr498Cys,ENST00000380789,;RP11-561E1.1,non_coding_transcript_exon_variant,,ENST00000519364,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	1576	53	97	SUCCESS
CSMD1	64478	.	GRCh37	8	3165891	3165891	+	synonymous_variant	Silent	SNP	G	G	A	rs779267560	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	53	0	ENST00000537824.1:c.3766C>T	p.Leu1256=	p.L1256=	ENST00000537824	NM_033225.5	1256	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55189.1	3766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGGGTGT	NONE	byFrequency	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	24/70	.	.	.	.	.	.	.	.	rs779267560,COSM3648392,COSM3648391,COSM3648393	24/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	3766	53	37	SUCCESS
AP3M2	10947	.	GRCh37	8	42015551	42015558	+	frameshift_variant	Frame_Shift_Del	DEL	ATTGGCTA	ATTGGCTA	-	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	ATTGGCTA	ATTGGCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	99	0	ENST00000174653.3:c.366_373del	p.Leu123ArgfsTer6	p.L123Rfs*6	ENST00000174653	NM_006803.3	122	ccATTGGCTAcc/cccc	0	.	.	.	.	.	-	PLAT/PX	protein_coding	YES	CCDS6125.1	366-373	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTCCATTGGCTACCGAG	NONE	.	.	hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF20,Pfam_domain:PF01217,Gene3D:3.30.450.60,PIRSF_domain:PIRSF005992,Superfamily_domains:SSF64356,Prints_domain:PR00314	.	.	ENSP00000428787	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000518421	Transcript	.	.	ENSG00000070718	570	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP3M2_HUMAN	AP3M2	HGNC	H0YBM0_HUMAN,E5RJ52_HUMAN,E5RI83_HUMAN	.	UPI0000125033	deletion	AP3M2,frameshift_variant,p.Leu123ArgfsTer6,ENST00000518421,;AP3M2,frameshift_variant,p.Leu123ArgfsTer6,ENST00000396926,;AP3M2,frameshift_variant,p.Leu123ArgfsTer6,ENST00000174653,;AP3M2,frameshift_variant,p.Leu32ArgfsTer6,ENST00000517499,;AP3M2,frameshift_variant,p.Leu123ArgfsTer6,ENST00000522288,;AP3M2,frameshift_variant,p.Leu8ArgfsTer6,ENST00000521280,;AP3M2,frameshift_variant,p.Leu123ArgfsTer6,ENST00000517922,;AP3M2,downstream_gene_variant,,ENST00000517969,;AP3M2,intron_variant,,ENST00000520685,;AP3M2,downstream_gene_variant,,ENST00000521235,;AP3M2,frameshift_variant,p.Leu123ArgfsTer6,ENST00000530375,;AP3M2,3_prime_UTR_variant,,ENST00000517865,;AP3M2,non_coding_transcript_exon_variant,,ENST00000523249,;AP3M2,upstream_gene_variant,,ENST00000521899,;	657-664	99	89	SUCCESS
NUP214	8021	.	GRCh37	9	134074363	134074363	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs777422483	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	100	0	ENST00000359428.5:c.5482A>G	p.Thr1828Ala	p.T1828A	ENST00000359428	NM_005085.3	1828	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS6940.1	5482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAACAGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	29/36	.	.	.	.	.	.	.	.	rs777422483	29/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Thr1829Ala,ENST00000451030,;NUP214,missense_variant,p.Thr1828Ala,ENST00000359428,;NUP214,missense_variant,p.Thr654Ala,ENST00000483497,;NUP214,missense_variant,p.Thr1818Ala,ENST00000411637,;NUP214,downstream_gene_variant,,ENST00000531600,;RP11-544A12.8,upstream_gene_variant,,ENST00000502188,;NUP214,downstream_gene_variant,,ENST00000465486,;NUP214,downstream_gene_variant,,ENST00000470765,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,downstream_gene_variant,,ENST00000528114,;NUP214,downstream_gene_variant,,ENST00000529286,;NUP214,missense_variant,p.Thr681Ala,ENST00000453861,;NUP214,downstream_gene_variant,,ENST00000525384,;NUP214,downstream_gene_variant,,ENST00000525980,;NUP214,downstream_gene_variant,,ENST00000524578,;	5626	100	80	SUCCESS
CAMSAP1	157922	.	GRCh37	9	138774767	138774767	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	68	0	ENST00000389532.4:c.318A>G	p.Gly106=	p.G106=	ENST00000389532	NM_015447.3	106	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS35176.2	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTCCCTG	NONE	.	.	hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3	.	.	ENSP00000374183	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000389532	Transcript	.	.	ENSG00000130559	19946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAMP1_HUMAN	CAMSAP1	HGNC	.	.	UPI0000EDA283	SNV	CAMSAP1,synonymous_variant,p.%3D,ENST00000389532,;CAMSAP1,synonymous_variant,p.%3D,ENST00000409386,;CAMSAP1,upstream_gene_variant,,ENST00000312405,;CAMSAP1,upstream_gene_variant,,ENST00000460094,;CAMSAP1,upstream_gene_variant,,ENST00000468150,;	383	68	51	SUCCESS
C9orf172	0	.	GRCh37	9	139741196	139741196	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	77	0	ENST00000436881.1:c.2330C>G	p.Pro777Arg	p.P777R	ENST00000436881	NM_001080482.2	777	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS48059.1	2330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCCACCT	NONE	.	.	hmmpanther:PTHR21517:SF2,hmmpanther:PTHR21517	.	.	ENSP00000412388	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000436881	Transcript	.	.	ENSG00000232434	37284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CI172_HUMAN	C9orf172	HGNC	.	.	UPI00015386B2	SNV	C9orf172,missense_variant,p.Pro777Arg,ENST00000436881,;PHPT1,upstream_gene_variant,,ENST00000545326,;PHPT1,upstream_gene_variant,,ENST00000371661,;PHPT1,upstream_gene_variant,,ENST00000247665,;PHPT1,upstream_gene_variant,,ENST00000497413,;MAMDC4,upstream_gene_variant,,ENST00000485732,;PHPT1,upstream_gene_variant,,ENST00000462205,;PHPT1,upstream_gene_variant,,ENST00000463215,;PHPT1,upstream_gene_variant,,ENST00000492540,;	2330	77	67	SUCCESS
UNC13B	10497	.	GRCh37	9	35295866	35295866	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	121	0	ENST00000378495.3:c.700G>A	p.Asp234Asn	p.D234N	ENST00000378495	NM_006377.3	234	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS6579.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGACTCT	NONE	.	.	hmmpanther:PTHR10480	.	.	ENSP00000367756	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000378495	Transcript	.	.	ENSG00000198722	12566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.01)	.	UN13B_HUMAN	UNC13B	HGNC	.	.	UPI0000211336	SNV	UNC13B,missense_variant,p.Asp234Asn,ENST00000378495,;UNC13B,missense_variant,p.Asp246Asn,ENST00000396787,;UNC13B,missense_variant,p.Asp234Asn,ENST00000378496,;	922	121	101	SUCCESS
MAGEC3	139081	.	GRCh37	X	140984494	140984494	+	intron_variant	Intron	SNP	C	C	T	rs769353554	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	101	67	1	ENST00000298296.1:c.1124-174C>T		p.*375*	ENST00000298296	NM_138702.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14676.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCCGAGTG	NONE	.	.	.	.	.	ENSP00000298296	.	.	.	.	.	.	.	.	.	.	rs769353554	.	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,missense_variant,p.Pro19Leu,ENST00000544766,;MAGEC3,missense_variant,p.Pro19Leu,ENST00000409007,;MAGEC3,missense_variant,p.Pro19Leu,ENST00000536088,;MAGEC3,intron_variant,,ENST00000298296,;MAGEC3,intron_variant,,ENST00000443323,;MAGEC3,downstream_gene_variant,,ENST00000448920,;MAGEC3,non_coding_transcript_exon_variant,,ENST00000483584,;	.	68	114	SUCCESS
ASMT	438	.	GRCh37	X	1742043	1742043	+	synonymous_variant	Silent	SNP	C	C	T	rs753071932	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	107	205	0	ENST00000381229.4:c.81C>T	p.Ala27=	p.A27=	ENST00000381229		27	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14117.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGCCGCCTG	NONE	.	.	PROSITE_profiles:PS51683,hmmpanther:PTHR11746,hmmpanther:PTHR11746:SF71,Gene3D:1.10.10.10,PIRSF_domain:PIRSF005739,Superfamily_domains:SSF46785	.	.	ENSP00000370639	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000381241	Transcript	.	.	ENSG00000196433	750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASMT_HUMAN	ASMT	HGNC	.	.	UPI00001AEDD0	SNV	ASMT,synonymous_variant,p.%3D,ENST00000381229,;ASMT,synonymous_variant,p.%3D,ENST00000381241,;ASMT,synonymous_variant,p.%3D,ENST00000381233,;ASMT,upstream_gene_variant,,ENST00000509780,;	280	205	123	SUCCESS
PITX3	5309	.	GRCh37	10	103991819	103991819	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	71	0	ENST00000370002.3:c.19A>C	p.Ser7Arg	p.S7R	ENST00000370002	NM_005029.3	7	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS7532.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCTGAGCA	NONE	.	.	PIRSF_domain:PIRSF000563	.	.	ENSP00000359019	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000370002	Transcript	1	.	ENSG00000107859	9006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.859)	.	tolerated_low_confidence(0.63)	.	PITX3_HUMAN	PITX3	HGNC	.	.	UPI0000131B4F	SNV	PITX3,missense_variant,p.Ser7Arg,ENST00000539804,;PITX3,missense_variant,p.Ser7Arg,ENST00000370002,;ELOVL3,downstream_gene_variant,,ENST00000370005,;	173	71	71	SUCCESS
INA	9118	.	GRCh37	10	105048343	105048372	+	inframe_deletion	In_Frame_Del	DEL	ATATTAGAGGAGACAGTAATATCTACTAAG	ATATTAGAGGAGACAGTAATATCTACTAAG	-	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	ATATTAGAGGAGACAGTAATATCTACTAAG	ATATTAGAGGAGACAGTAATATCTACTAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	173	51	173	0	ENST00000369849.4:c.1418_1447del	p.Ile473_Lys482del	p.I473_K482del	ENST00000369849	NM_032727.3	473	ATATTAGAGGAGACAGTAATATCTACTAAG/-	0	.	.	.	.	.	-	ILEETVISTK/-	protein_coding	YES	CCDS7545.1	1417-1446	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGAAATATTAGAGGAGACAGTAATATCTACTAAGAAAAC	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132	.	.	ENSP00000358865	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000369849	Transcript	.	.	ENSG00000148798	6057	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AINX_HUMAN	INA	HGNC	B4DE66_HUMAN	.	UPI000012573C	deletion	INA,inframe_deletion,p.Ile473_Lys482del,ENST00000369849,;	1466-1495	173	224	SUCCESS
ADAM12	8038	.	GRCh37	10	127806605	127806605	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	28	0	ENST00000368679.4:c.612+2T>C		p.X204_splice	ENST00000368679	NM_003474.4	204		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7653.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTACCCTT	NONE	.	.	.	.	.	ENSP00000357668	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	HIGH	6/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,splice_donor_variant,,ENST00000368679,;ADAM12,splice_donor_variant,,ENST00000368676,;ADAM12,splice_donor_variant,,ENST00000448723,;	.	28	58	SUCCESS
PGR	5241	.	GRCh37	11	100933279	100933279	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	45	67	0	ENST00000325455.5:c.2111A>G	p.Asp704Gly	p.D704G	ENST00000325455	NM_001202474.3	704	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS8310.1	2111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGTCATGT	NONE	.	.	hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000325120	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,missense_variant,p.Asp704Gly,ENST00000325455,;PGR,missense_variant,p.Asp110Gly,ENST00000534013,;PGR,intron_variant,,ENST00000263463,;PGR,missense_variant,p.Asp704Gly,ENST00000534780,;PGR,missense_variant,p.Asp665Gly,ENST00000528960,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,intron_variant,,ENST00000526300,;	3565	67	156	SUCCESS
OR10G4	390264	.	GRCh37	11	123886545	123886545	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	58	87	0	ENST00000320891.4:c.264C>A	p.Gly88=	p.G88=	ENST00000320891	NM_001004462.1	88	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31702.1	264	RADIA|SOMATICSNIPER|VARSCANS	.	AGCGGCAGGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000325076	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320891	Transcript	.	.	ENSG00000254737	14809	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O10G4_HUMAN	OR10G4	HGNC	.	.	UPI0000041BAD	SNV	OR10G4,synonymous_variant,p.%3D,ENST00000320891,;	264	87	145	SUCCESS
OR51A7	119687	.	GRCh37	11	4928615	4928615	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	21	0	ENST00000359350.4:c.16A>G	p.Asn6Asp	p.N6D	ENST00000359350	NM_001004749.1	6	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS31364.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATAACTCC	NONE	.	.	Superfamily_domains:SSF81321,hmmpanther:PTHR26450:SF114,hmmpanther:PTHR26450	.	.	ENSP00000352305	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359350	Transcript	.	.	ENSG00000176895	15188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	O51A7_HUMAN	OR51A7	HGNC	.	.	UPI0000041C23	SNV	OR51A7,missense_variant,p.Asn6Asp,ENST00000359350,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	16	21	55	SUCCESS
TRIM5	85363	.	GRCh37	11	5686833	5686833	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	7	199	0	ENST00000380034.3:c.895+53A>G		p.*299*	ENST00000380034	NM_033034.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31393.1	.	MUTECT|MUSE	.	AAAGATAATAA	NONE	.	.	.	.	.	ENSP00000369373	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380034	Transcript	.	.	ENSG00000132256	16276	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRIM5_HUMAN	TRIM5	HGNC	L7REZ6_HUMAN,L7RET5_HUMAN,E7EQQ5_HUMAN,D8L201_HUMAN,C9JWN8_HUMAN	.	UPI00000717A7	SNV	TRIM5,synonymous_variant,p.%3D,ENST00000396847,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000438025,;TRIM5,intron_variant,,ENST00000396853,;TRIM5,intron_variant,,ENST00000396855,;TRIM5,intron_variant,,ENST00000380034,;TRIM5,intron_variant,,ENST00000305836,;TRIM5,non_coding_transcript_exon_variant,,ENST00000492086,;TRIM5,intron_variant,,ENST00000483835,;TRIM5,downstream_gene_variant,,ENST00000465634,;TRIM5,intron_variant,,ENST00000433961,;	.	199	230	SUCCESS
FAM160A2	0	.	GRCh37	11	6238742	6238742	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	86	1	ENST00000265978.4:c.2116T>A	p.Ser706Thr	p.S706T	ENST00000265978	NM_032127.3	706	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS7760.1	2116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGAGCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4	.	.	ENSP00000265978	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000265978	Transcript	.	.	ENSG00000051009	25378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	F16A2_HUMAN	FAM160A2	HGNC	.	.	UPI000013D6B5	SNV	FAM160A2,missense_variant,p.Ser706Thr,ENST00000265978,;FAM160A2,missense_variant,p.Ser692Thr,ENST00000449352,;FAM160A2,missense_variant,p.Ser692Thr,ENST00000524416,;FAM160A2,downstream_gene_variant,,ENST00000532797,;FAM160A2,upstream_gene_variant,,ENST00000529360,;	2475	87	115	SUCCESS
MED17	9440	.	GRCh37	11	93526996	93526996	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	40	90	0	ENST00000251871.3:c.740T>G	p.Ile247Ser	p.I247S	ENST00000251871	NM_004268.4	247	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS8295.1	740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATTCCTA	NONE	.	.	Pfam_domain:PF10156,hmmpanther:PTHR13114	.	.	ENSP00000251871	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000251871	Transcript	.	.	ENSG00000042429	2375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	MED17_HUMAN	MED17	HGNC	E9PJZ4_HUMAN	.	UPI000013CD1D	SNV	MED17,missense_variant,p.Ile139Ser,ENST00000528786,;MED17,missense_variant,p.Ile247Ser,ENST00000251871,;MED17,downstream_gene_variant,,ENST00000533359,;MED17,downstream_gene_variant,,ENST00000530819,;snoU13,upstream_gene_variant,,ENST00000459243,;MED17,upstream_gene_variant,,ENST00000533367,;MED17,missense_variant,p.Ile247Ser,ENST00000533133,;MED17,non_coding_transcript_exon_variant,,ENST00000525026,;MED17,upstream_gene_variant,,ENST00000507258,;MED17,upstream_gene_variant,,ENST00000531920,;	1027	90	122	SUCCESS
GAS2L3	283431	.	GRCh37	12	101017580	101017580	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	36	64	0	ENST00000266754.5:c.997C>T	p.Pro333Ser	p.P333S	ENST00000266754		333	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9079.1	997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAACCCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF256	.	.	ENSP00000439672	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000539410	Transcript	.	.	ENSG00000139354	27475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.04)	.	GA2L3_HUMAN	GAS2L3	HGNC	H0YIT6_HUMAN,G3V1N3_HUMAN,F8VSB7_HUMAN	.	UPI000000DA3B	SNV	GAS2L3,missense_variant,p.Pro333Ser,ENST00000539410,;GAS2L3,missense_variant,p.Pro333Ser,ENST00000266754,;GAS2L3,missense_variant,p.Pro229Ser,ENST00000537247,;GAS2L3,missense_variant,p.Pro333Ser,ENST00000547754,;GAS2L3,missense_variant,p.Pro30Ser,ENST00000552854,;	1383	64	134	SUCCESS
LMBR1L	55716	.	GRCh37	12	49496110	49496110	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	38	90	0	ENST00000267102.8:c.819G>C	p.Gln273His	p.Q273H	ENST00000267102	NM_018113.2	273	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS8780.2	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCTGTCT	NONE	.	.	hmmpanther:PTHR12625:SF2,hmmpanther:PTHR12625,Pfam_domain:PF04791	.	.	ENSP00000267102	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000267102	Transcript	.	.	ENSG00000139636	18268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	tolerated(0.17)	.	LMBRL_HUMAN	LMBR1L	HGNC	F8VVE2_HUMAN	.	UPI0000071212	SNV	LMBR1L,missense_variant,p.Gln268His,ENST00000395141,;LMBR1L,missense_variant,p.Gln273His,ENST00000267102,;LMBR1L,missense_variant,p.Gln273His,ENST00000547382,;LMBR1L,downstream_gene_variant,,ENST00000547675,;LMBR1L,downstream_gene_variant,,ENST00000551854,;LMBR1L,downstream_gene_variant,,ENST00000551782,;LMBR1L,upstream_gene_variant,,ENST00000552449,;LMBR1L,downstream_gene_variant,,ENST00000550137,;LMBR1L,upstream_gene_variant,,ENST00000547698,;LMBR1L,downstream_gene_variant,,ENST00000548983,;LMBR1L,downstream_gene_variant,,ENST00000553204,;LMBR1L,downstream_gene_variant,,ENST00000552153,;LMBR1L,upstream_gene_variant,,ENST00000549429,;LMBR1L,3_prime_UTR_variant,,ENST00000417750,;LMBR1L,3_prime_UTR_variant,,ENST00000547670,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552879,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552577,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000551143,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552141,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000550867,;LMBR1L,upstream_gene_variant,,ENST00000553040,;LMBR1L,downstream_gene_variant,,ENST00000549587,;LMBR1L,downstream_gene_variant,,ENST00000549296,;LMBR1L,downstream_gene_variant,,ENST00000457164,;LMBR1L,downstream_gene_variant,,ENST00000551115,;LMBR1L,downstream_gene_variant,,ENST00000549730,;LMBR1L,downstream_gene_variant,,ENST00000551535,;LMBR1L,upstream_gene_variant,,ENST00000551272,;LMBR1L,downstream_gene_variant,,ENST00000550815,;LMBR1L,upstream_gene_variant,,ENST00000547813,;LMBR1L,downstream_gene_variant,,ENST00000551169,;	1162	90	131	SUCCESS
FAM186A	121006	.	GRCh37	12	50749666	50749666	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	54	0	ENST00000327337.5:c.949C>G	p.Gln317Glu	p.Q317E	ENST00000327337	NM_001145475.1	317	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS44878.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGAAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Gene3D:1.20.5.340	.	.	ENSP00000329995	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000327337	Transcript	.	.	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	deleterious(0.05)	.	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Gln317Glu,ENST00000327337,;FAM186A,missense_variant,p.Gln317Glu,ENST00000543111,;FAM186A,upstream_gene_variant,,ENST00000543096,;	949	54	52	SUCCESS
CCDC59	29080	.	GRCh37	12	82750988	82750988	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759432434	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	75	0	ENST00000256151.7:c.215G>A	p.Arg72Gln	p.R72Q	ENST00000256151	NM_014167.4	72	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS9023.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCGTAGC	NONE	.	.	hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657	.	.	ENSP00000256151	.	2/4	.	.	.	.	.	.	.	.	rs759432434	2/4	PASS	ENST00000256151	Transcript	.	.	ENSG00000133773	25005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated(0.33)	.	TAP26_HUMAN	CCDC59	HGNC	.	.	UPI0000034DFE	SNV	CCDC59,missense_variant,p.Arg72Gln,ENST00000552377,;CCDC59,missense_variant,p.Arg72Gln,ENST00000256151,;METTL25,upstream_gene_variant,,ENST00000550058,;METTL25,upstream_gene_variant,,ENST00000248306,;METTL25,upstream_gene_variant,,ENST00000548200,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552412,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;METTL25,upstream_gene_variant,,ENST00000547985,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;CCDC59,non_coding_transcript_exon_variant,,ENST00000547758,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,upstream_gene_variant,,ENST00000550589,;	627	75	86	SUCCESS
CLEC6A	93978	.	GRCh37	12	8618122	8618122	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	72	0	ENST00000382073.3:c.266G>T	p.Ser89Ile	p.S89I	ENST00000382073	NM_001007033.1	89	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS31739.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTTGCT	NONE	.	.	Superfamily_domains:SSF56436,SMART_domains:SM00034,Gene3D:3.10.100.10,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF10,PROSITE_profiles:PS50041	.	.	ENSP00000371505	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000382073	Transcript	.	.	ENSG00000205846	14556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CLC6A_HUMAN	CLEC6A	HGNC	.	.	UPI00003BE8D6	SNV	CLEC6A,missense_variant,p.Ser89Ile,ENST00000382073,;RP11-113C12.2,downstream_gene_variant,,ENST00000477936,;	452	72	88	SUCCESS
PDS5B	23047	.	GRCh37	13	33222891	33222891	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	A	rs200185383	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	24	0	ENST00000315596.10:c.-19G>A		p.X7_splice	ENST00000315596	NM_015032.3	7		0	.	C:0.0015	.	C:0	.	A	.	protein_coding	YES	CCDS41878.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTCAGGGGTAG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000313851	C:0	2/35	.	.	.	.	.	.	.	.	rs200185383	2/35	PASS	ENST00000315596	Transcript	.	C:0.0004	ENSG00000083642	20418	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,splice_region_variant,,ENST00000315596,;PDS5B,splice_region_variant,,ENST00000450460,;PDS5B,splice_region_variant,,ENST00000482955,;PDS5B,splice_region_variant,,ENST00000493653,;PDS5B,splice_region_variant,,ENST00000466078,;PDS5B,splice_region_variant,,ENST00000498550,;	168	24	42	SUCCESS
VWA8	23078	.	GRCh37	13	42179341	42179341	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs544413664	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	27	0	ENST00000379310.3:c.4949A>T	p.Gln1650Leu	p.Q1650L	ENST00000379310	NM_015058.1	1650	cAg/cTg	0	.	A:0.0008	.	A:0	.	A	Q/L	protein_coding	YES	CCDS41881.1	4949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGTCGC	NONE	by1000G	.	hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9	A:0	.	ENSP00000368612	A:0	40/45	.	.	.	.	.	.	.	.	rs544413664	40/45	PASS	ENST00000379310	Transcript	.	A:0.0002	ENSG00000102763	29071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	A:0	deleterious(0)	.	VWA8_HUMAN	VWA8	HGNC	.	.	UPI00001606AC	SNV	VWA8,missense_variant,p.Gln1650Leu,ENST00000379310,;	5018	27	63	SUCCESS
LMO7	4008	.	GRCh37	13	76381866	76381866	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	55	0	ENST00000465261.2:c.748G>A	p.Asp250Asn	p.D250N	ENST00000465261	NM_015842.2	250	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS53876.1	748	MUTECT|MUSE	.	TTGAAGACTTT	NONE	.	.	hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4	.	.	ENSP00000433352	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.772)	.	tolerated(0.25)	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Asp535Asn,ENST00000357063,;LMO7,missense_variant,p.Asp250Asn,ENST00000465261,;LMO7,missense_variant,p.Asp535Asn,ENST00000377534,;LMO7,missense_variant,p.Asp250Asn,ENST00000321797,;LMO7,missense_variant,p.Asp159Asn,ENST00000447038,;LMO7,intron_variant,,ENST00000526202,;LMO7,intron_variant,,ENST00000341547,;LMO7,intron_variant,,ENST00000377499,;LMO7,intron_variant,,ENST00000489941,;LMO7,intron_variant,,ENST00000497947,;LMO7,intron_variant,,ENST00000525373,;LMO7,downstream_gene_variant,,ENST00000534657,;LMO7,downstream_gene_variant,,ENST00000526371,;LMO7,downstream_gene_variant,,ENST00000526528,;LMO7,downstream_gene_variant,,ENST00000533305,;RP11-29G8.3,downstream_gene_variant,,ENST00000563635,;LMO7,downstream_gene_variant,,ENST00000465309,;	1508	55	79	SUCCESS
POTEG	404785	.	GRCh37	14	19566058	19566058	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	429	58	218	0	ENST00000547889.1:c.1102G>A	p.Val368Ile	p.V368I	ENST00000547889		368	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32018.1	1102	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGTCTCT	NONE	.	.	hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118	.	.	ENSP00000386971	.	6/11	.	.	.	.	.	.	.	.	COSM1723236	6/11	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.001)	.	tolerated(1)	1	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,missense_variant,p.Val368Ile,ENST00000409832,;CTD-2311B13.5,intron_variant,,ENST00000548748,;RNU6-1239P,downstream_gene_variant,,ENST00000391310,;POTEG,missense_variant,p.Val368Ile,ENST00000547889,;POTEG,3_prime_UTR_variant,,ENST00000552966,;	1154	218	487	SUCCESS
OR4K13	390433	.	GRCh37	14	20502316	20502316	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	52	1	ENST00000315693.2:c.602C>T	p.Ala201Val	p.A201V	ENST00000315693	NM_001004714.1	201	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32028.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAGCAATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000319322	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315693	Transcript	.	.	ENSG00000176253	15351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.15)	.	OR4KD_HUMAN	OR4K13	HGNC	.	.	UPI0000041CEB	SNV	OR4K13,missense_variant,p.Ala201Val,ENST00000315693,;AL359218.1,downstream_gene_variant,,ENST00000580563,;	604	53	105	SUCCESS
KLHDC1	122773	.	GRCh37	14	50192421	50192421	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	486	275	518	0	ENST00000359332.2:c.501G>A	p.Trp167Ter	p.W167*	ENST00000359332	NM_172193.2	167	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS9692.1	501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGGATG	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF286	.	.	ENSP00000352282	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000359332	Transcript	.	.	ENSG00000197776	19836	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLDC1_HUMAN	KLHDC1	HGNC	G3V5V5_HUMAN	.	UPI0000072D4D	SNV	KLHDC1,stop_gained,p.Trp38Ter,ENST00000557128,;KLHDC1,stop_gained,p.Trp167Ter,ENST00000359332,;KLHDC1,missense_variant,p.Gly141Glu,ENST00000553274,;KLHDC1,non_coding_transcript_exon_variant,,ENST00000554512,;KLHDC1,3_prime_UTR_variant,,ENST00000556392,;KLHDC1,intron_variant,,ENST00000555704,;	591	518	762	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77493179	77493179	+	synonymous_variant	Silent	SNP	C	C	A	rs370738204	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	137	0	ENST00000238647.3:c.957G>T	p.Ser319=	p.S319=	ENST00000238647	NM_024496.3	319	tcG/tcT	0	T:0	.	.	.	.	A	S	protein_coding	YES	CCDS9854.1	957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCGACGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF14,hmmpanther:PTHR10816	.	T:0.0002	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	rs370738204	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,synonymous_variant,p.%3D,ENST00000238647,;	1856	137	59	SUCCESS
PTPN21	11099	.	GRCh37	14	88983540	88983540	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	39	74	0	ENST00000328736.3:c.246del	p.Lys82AsnfsTer3	p.K82Nfs*3	ENST00000328736		82	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS9884.1	246	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAAGGTTTTTC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR19134:SF78,hmmpanther:PTHR19134,PROSITE_patterns:PS00660,Pfam_domain:PF09379,Gene3D:3.10.20.90,PIRSF_domain:PIRSF000934,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000452414	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000556564	Transcript	.	.	ENSG00000070778	9651	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTN21_HUMAN	PTPN21	HGNC	Q8WX29_HUMAN,G3V3S6_HUMAN	.	UPI000013D15F	deletion	PTPN21,frameshift_variant,p.Lys82AsnfsTer3,ENST00000556564,;PTPN21,frameshift_variant,p.Lys82AsnfsTer3,ENST00000555243,;PTPN21,frameshift_variant,p.Lys82AsnfsTer3,ENST00000328736,;RNU4-22P,downstream_gene_variant,,ENST00000411058,;RP11-507K2.2,downstream_gene_variant,,ENST00000555444,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554178,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554628,;PTPN21,3_prime_UTR_variant,,ENST00000536337,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,;	531	74	131	SUCCESS
DNM1P46	196968	.	GRCh37	15	100332612	100332612	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	16	0	ENST00000341853.1:n.1580C>T		p.*527*	ENST00000341853				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGGGGGC	NONE	.	28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408584	Transcript	.	.	ENSG00000221511	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC090825.1	Clone_based_ensembl_gene	.	.	.	SNV	AC090825.1,downstream_gene_variant,,ENST00000408584,;RN7SL484P,downstream_gene_variant,,ENST00000462651,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000561042,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000341853,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000559110,;CTD-2054N24.1,non_coding_transcript_exon_variant,,ENST00000557959,;	.	16	22	SUCCESS
MAGEL2	54551	.	GRCh37	15	23890281	23890281	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	43	91	0	ENST00000532292.1:c.800A>G	p.Glu267Gly	p.E267G	ENST00000532292	NM_019066.4	267	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	.	800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTCTTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	COSM1516861	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.028)	.	tolerated(0.12)	1	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Glu267Gly,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	895	91	127	SUCCESS
HERC2	8924	.	GRCh37	15	28419679	28419679	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	309	126	434	0	ENST00000261609.7:c.9919G>A	p.Glu3307Lys	p.E3307K	ENST00000261609	NM_004667.5	3307	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10021.1	9919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCTAAGC	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000261609	.	65/93	.	.	.	.	.	.	.	.	.	65/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Glu3307Lys,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	10028	434	435	SUCCESS
SEC11A	23478	.	GRCh37	15	85259403	85259403	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	88	0	ENST00000268220.7:c.-97G>C		p.*33*	ENST00000268220	NM_014300.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45340.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCCCGCA	NONE	.	.	.	.	.	ENSP00000268220	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000268220	Transcript	.	.	ENSG00000140612	17718	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC11A_HUMAN	SEC11A	HGNC	H0YNX5_HUMAN,B4DUL4_HUMAN	.	UPI0000049B6F	SNV	SEC11A,5_prime_UTR_variant,,ENST00000268220,;SEC11A,upstream_gene_variant,,ENST00000558134,;SEC11A,upstream_gene_variant,,ENST00000560266,;SEC11A,upstream_gene_variant,,ENST00000558196,;SEC11A,upstream_gene_variant,,ENST00000455959,;SEC11A,upstream_gene_variant,,ENST00000559729,;SEC11A,upstream_gene_variant,,ENST00000558217,;SEC11A,upstream_gene_variant,,ENST00000560409,;	545	88	87	SUCCESS
CHD2	1106	.	GRCh37	15	93496619	93496619	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	38	86	0	ENST00000394196.4:c.1535G>C	p.Gly512Ala	p.G512A	ENST00000394196	NM_001271.3	512	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS10374.2	1535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGCCTAG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000377747	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Gly512Ala,ENST00000557381,;CHD2,missense_variant,p.Gly512Ala,ENST00000394196,;CHD2,downstream_gene_variant,,ENST00000420239,;CHD2,downstream_gene_variant,,ENST00000536619,;CHD2,non_coding_transcript_exon_variant,,ENST00000555582,;CHD2,downstream_gene_variant,,ENST00000556930,;	2603	86	120	SUCCESS
TGFB1I1	7041	.	GRCh37	16	31488866	31488866	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1221829945	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	101	0	ENST00000394863.3:c.1355G>A	p.Cys452Tyr	p.C452Y	ENST00000394863	NM_001042454.2	452	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS42156.1	1355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGCCAGC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF24,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,PIRSF_domain:PIRSF037881,Superfamily_domains:SSF57716	.	.	ENSP00000378332	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000394863	Transcript	.	.	ENSG00000140682	11767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TGFI1_HUMAN	TGFB1I1	HGNC	H3BSN4_HUMAN,H3BS04_HUMAN	.	UPI00001FFFA9	SNV	TGFB1I1,missense_variant,p.Cys452Tyr,ENST00000394863,;TGFB1I1,missense_variant,p.Cys435Tyr,ENST00000361773,;TGFB1I1,missense_variant,p.Cys435Tyr,ENST00000394858,;TGFB1I1,missense_variant,p.Cys435Tyr,ENST00000567607,;TGFB1I1,downstream_gene_variant,,ENST00000562566,;TGFB1I1,downstream_gene_variant,,ENST00000565454,;TGFB1I1,downstream_gene_variant,,ENST00000565360,;TGFB1I1,3_prime_UTR_variant,,ENST00000563712,;TGFB1I1,3_prime_UTR_variant,,ENST00000567066,;TGFB1I1,3_prime_UTR_variant,,ENST00000564804,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000564176,;TGFB1I1,downstream_gene_variant,,ENST00000569703,;TGFB1I1,downstream_gene_variant,,ENST00000567524,;TGFB1I1,downstream_gene_variant,,ENST00000561785,;TGFB1I1,downstream_gene_variant,,ENST00000562165,;TGFB1I1,downstream_gene_variant,,ENST00000569254,;TGFB1I1,downstream_gene_variant,,ENST00000568142,;	1485	101	84	SUCCESS
MRPL28	10573	.	GRCh37	16	419990	419990	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	73	0	ENST00000199706.8:c.229C>T	p.Arg77Trp	p.R77W	ENST00000199706	NM_006428.4	77	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS32349.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCTGGG	NONE	.	.	hmmpanther:PTHR13528,hmmpanther:PTHR13528:SF0,Superfamily_domains:SSF143800	.	.	ENSP00000199706	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000199706	Transcript	.	.	ENSG00000086504	14484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.663)	.	deleterious(0.02)	.	RM28_HUMAN	MRPL28	HGNC	Q4TT37_HUMAN,A2IDC7_HUMAN,A2IDC6_HUMAN	.	UPI00001678A4	SNV	MRPL28,missense_variant,p.Arg77Trp,ENST00000447696,;MRPL28,missense_variant,p.Arg77Trp,ENST00000450882,;MRPL28,missense_variant,p.Arg77Trp,ENST00000389675,;MRPL28,missense_variant,p.Arg77Trp,ENST00000441883,;MRPL28,missense_variant,p.Arg77Trp,ENST00000199706,;TMEM8A,downstream_gene_variant,,ENST00000250930,;TMEM8A,downstream_gene_variant,,ENST00000448854,;MRPL28,upstream_gene_variant,,ENST00000429738,;TMEM8A,downstream_gene_variant,,ENST00000424078,;TMEM8A,downstream_gene_variant,,ENST00000431232,;MRPL28,non_coding_transcript_exon_variant,,ENST00000483764,;MRPL28,non_coding_transcript_exon_variant,,ENST00000469744,;MRPL28,non_coding_transcript_exon_variant,,ENST00000481453,;MRPL28,non_coding_transcript_exon_variant,,ENST00000461550,;TMEM8A,downstream_gene_variant,,ENST00000467452,;TMEM8A,downstream_gene_variant,,ENST00000475348,;	265	73	40	SUCCESS
C16orf71	0	.	GRCh37	16	4794959	4794959	+	synonymous_variant	Silent	SNP	G	G	T	rs1447294658	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	36	103	0	ENST00000299320.5:c.990G>T	p.Arg330=	p.R330=	ENST00000299320	NM_139170.2	330	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10521.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGAAGGT	NONE	.	.	.	.	.	ENSP00000299320	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000299320	Transcript	.	.	ENSG00000166246	25081	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP071_HUMAN	C16orf71	HGNC	K7ENX3_HUMAN	.	UPI000013E57E	SNV	C16orf71,synonymous_variant,p.%3D,ENST00000590191,;C16orf71,synonymous_variant,p.%3D,ENST00000299320,;ZNF500,downstream_gene_variant,,ENST00000588942,;ZNF500,downstream_gene_variant,,ENST00000219478,;C16orf71,downstream_gene_variant,,ENST00000586724,;RP11-127I20.7,intron_variant,,ENST00000588099,;C16orf71,non_coding_transcript_exon_variant,,ENST00000586256,;	1468	103	107	SUCCESS
RAB11FIP3	9727	.	GRCh37	16	541225	541225	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	92	0	ENST00000262305.4:c.1265+2225C>T		p.*422*	ENST00000262305	NM_014700.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32351.1	.	MUTECT|MUSE	.	ACCGCCTTGAG	NONE	.	.	.	.	.	ENSP00000262305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262305	Transcript	.	.	ENSG00000090565	17224	.	.	MODIFIER	5/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFIP3_HUMAN	RAB11FIP3	HGNC	F6X994_HUMAN	.	UPI0000129C9C	SNV	RAB11FIP3,missense_variant,p.Leu108Phe,ENST00000412256,;RAB11FIP3,missense_variant,p.Leu329Phe,ENST00000434585,;RAB11FIP3,missense_variant,p.Leu453Phe,ENST00000457159,;RAB11FIP3,intron_variant,,ENST00000450428,;RAB11FIP3,intron_variant,,ENST00000452814,;RAB11FIP3,intron_variant,,ENST00000262305,;RAB11FIP3,intron_variant,,ENST00000449879,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000495663,;RAB11FIP3,downstream_gene_variant,,ENST00000483002,;AL049542.1,upstream_gene_variant,,ENST00000546124,;	.	92	82	SUCCESS
CES1P1	51716	.	GRCh37	16	55801323	55801326	+	non_coding_transcript_exon_variant	RNA	DEL	ACAA	ACAA	-	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	ACAA	ACAA	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	22	0	ENST00000571348.1:n.352_355del		p.*118*	ENST00000571348				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTATTTACAAACTGA	NONE	.	.	.	.	.	.	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000571348	Transcript	.	.	ENSG00000228695	18546	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CES1P1	HGNC	.	.	.	deletion	CES1P1,non_coding_transcript_exon_variant,,ENST00000573705,;CES1P1,non_coding_transcript_exon_variant,,ENST00000571348,;CES1P1,non_coding_transcript_exon_variant,,ENST00000574030,;CES1P1,non_coding_transcript_exon_variant,,ENST00000421606,;	350-353	22	50	SUCCESS
ZDHHC1	29800	.	GRCh37	16	67440191	67440191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	94	231	0	ENST00000348579.2:c.164C>T	p.Ala55Val	p.A55V	ENST00000348579	NM_013304.2	55	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10836.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCCACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF8	.	.	ENSP00000340299	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000348579	Transcript	.	.	ENSG00000159714	17916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	deleterious(0.04)	.	ZDHC1_HUMAN	ZDHHC1	HGNC	.	.	UPI000013C37E	SNV	ZDHHC1,missense_variant,p.Ala55Val,ENST00000348579,;ZDHHC1,upstream_gene_variant,,ENST00000562122,;ZDHHC1,non_coding_transcript_exon_variant,,ENST00000568650,;	506	231	230	SUCCESS
RLTPR	0	.	GRCh37	16	67680396	67680396	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	103	0	ENST00000334583.6:c.442T>C	p.Ser148Pro	p.S148P	ENST00000334583	NM_001013838.1	148	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS45513.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGTCCACT	NONE	.	.	hmmpanther:PTHR24112:SF41,hmmpanther:PTHR24112	.	.	ENSP00000334958	.	6/38	.	.	.	.	.	.	.	.	.	6/38	PASS	ENST00000334583	Transcript	.	.	ENSG00000159753	27089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	LR16C_HUMAN	RLTPR	HGNC	.	.	UPI00005194F2	SNV	RLTPR,missense_variant,p.Ser148Pro,ENST00000334583,;RLTPR,missense_variant,p.Ser148Pro,ENST00000545661,;RLTPR,3_prime_UTR_variant,,ENST00000602563,;RLTPR,downstream_gene_variant,,ENST00000602467,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,upstream_gene_variant,,ENST00000602321,;RLTPR,upstream_gene_variant,,ENST00000602562,;RLTPR,upstream_gene_variant,,ENST00000602742,;	770	104	77	SUCCESS
MYH3	4621	.	GRCh37	17	10535931	10535931	+	synonymous_variant	Silent	SNP	C	C	T	rs747613220	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	64	0	ENST00000583535.1:c.4818G>A	p.Val1606=	p.V1606=	ENST00000583535	NM_002470.3	1606	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11157.1	4818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGCACCTC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576	.	.	ENSP00000464317	.	34/41	.	.	.	.	.	.	.	.	rs747613220	34/41	PASS	ENST00000583535	Transcript	.	.	ENSG00000109063	7573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH3_HUMAN	MYH3	HGNC	.	.	UPI000013C892	SNV	MYH3,synonymous_variant,p.%3D,ENST00000583535,;MYH3,synonymous_variant,p.%3D,ENST00000226209,;MYH3,upstream_gene_variant,,ENST00000577963,;MYH3,upstream_gene_variant,,ENST00000579928,;	4906	64	55	SUCCESS
C17orf51	0	.	GRCh37	17	21454578	21454578	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	89	235	1	ENST00000391411.5:c.108G>T	p.Ser36=	p.S36=	ENST00000391411	NM_001113434.3	36	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45629.1	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCGAAGA	NONE	.	.	.	.	.	ENSP00000384286	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000391411	Transcript	.	.	ENSG00000212719	27904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ051_HUMAN	C17orf51	HGNC	.	.	UPI00001A832D	SNV	C17orf51,synonymous_variant,p.%3D,ENST00000391411,;C17orf51,synonymous_variant,p.%3D,ENST00000412778,;RP11-822E23.8,intron_variant,,ENST00000426261,;C17orf51,intron_variant,,ENST00000535846,;RP11-822E23.8,intron_variant,,ENST00000468381,;RP11-822E23.3,upstream_gene_variant,,ENST00000581528,;	366	236	253	SUCCESS
OSBPL7	114881	.	GRCh37	17	45890960	45890960	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	51	0	ENST00000007414.3:c.1592A>G	p.Glu531Gly	p.E531G	ENST00000007414	NM_145798.2	531	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS11515.1	1592	MUTECT|MUSE	.	TGCGCTCGCAG	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972	.	.	ENSP00000007414	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Glu531Gly,ENST00000392507,;OSBPL7,missense_variant,p.Glu531Gly,ENST00000007414,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,downstream_gene_variant,,ENST00000580140,;OSBPL7,upstream_gene_variant,,ENST00000578461,;OSBPL7,downstream_gene_variant,,ENST00000580808,;OSBPL7,downstream_gene_variant,,ENST00000584698,;	1784	51	48	SUCCESS
hsa-mir-6080	0	.	GRCh37	17	62745794	62745794	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	9	0	ENST00000400873.3:n.2848C>G		p.*950*	ENST00000400873				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAAAAGGGTGG	NONE	.	.	.	.	.	.	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000400873	Transcript	.	.	ENSG00000215769	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	hsa-mir-6080	miRBase	.	.	.	SNV	hsa-mir-6080,non_coding_transcript_exon_variant,,ENST00000578492,;hsa-mir-6080,non_coding_transcript_exon_variant,,ENST00000400873,;RP13-104F24.3,upstream_gene_variant,,ENST00000583145,;RP13-104F24.1,downstream_gene_variant,,ENST00000584190,;MINOS1P2,upstream_gene_variant,,ENST00000604003,;	2848	9	14	SUCCESS
COG1	9382	.	GRCh37	17	71197399	71197399	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	71	84	0	ENST00000299886.4:c.1433A>T	p.Glu478Val	p.E478V	ENST00000299886	NM_018714.2	478	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS11692.1	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGAGAGTC	NONE	.	.	hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0	.	.	ENSP00000299886	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000299886	Transcript	.	.	ENSG00000166685	6545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	COG1_HUMAN	COG1	HGNC	J3KSY3_HUMAN	.	UPI0000127E34	SNV	COG1,missense_variant,p.Glu478Val,ENST00000438720,;COG1,missense_variant,p.Glu478Val,ENST00000299886,;COG1,upstream_gene_variant,,ENST00000582512,;COG1,upstream_gene_variant,,ENST00000582672,;RP11-143K11.5,downstream_gene_variant,,ENST00000580671,;COG1,upstream_gene_variant,,ENST00000577844,;COG1,upstream_gene_variant,,ENST00000577238,;COG1,downstream_gene_variant,,ENST00000582587,;COG1,upstream_gene_variant,,ENST00000580271,;	1513	84	137	SUCCESS
EIF5A	1984	.	GRCh37	17	7212975	7212975	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1447521760	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	59	0	ENST00000336458.8:c.21C>G	p.Phe7Leu	p.F7L	ENST00000336458	NM_001970.4	7	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS45601.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCGAGAC	NONE	.	.	hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,PIRSF_domain:PIRSF003025	.	.	ENSP00000336702	.	2/6	.	.	.	.	.	.	.	.	COSM983926,COSM1589126	2/6	PASS	ENST00000336452	Transcript	.	.	ENSG00000132507	3300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.331)	.	deleterious(0.01)	1,1	IF5A1_HUMAN	EIF5A	HGNC	I3L397_HUMAN	.	UPI00001B5C0C	SNV	EIF5A,missense_variant,p.Phe7Leu,ENST00000571955,;EIF5A,missense_variant,p.Phe7Leu,ENST00000336458,;EIF5A,missense_variant,p.Phe37Leu,ENST00000336452,;EIF5A,missense_variant,p.Phe7Leu,ENST00000572815,;EIF5A,missense_variant,p.Phe7Leu,ENST00000573542,;EIF5A,missense_variant,p.Phe7Leu,ENST00000576930,;EIF5A,missense_variant,p.Phe7Leu,ENST00000419711,;EIF5A,missense_variant,p.Phe7Leu,ENST00000573714,;EIF5A,missense_variant,p.Phe7Leu,ENST00000416016,;GPS2,downstream_gene_variant,,ENST00000574458,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000380728,;GPS2,downstream_gene_variant,,ENST00000570780,;GPS2,downstream_gene_variant,,ENST00000577040,;GPS2,downstream_gene_variant,,ENST00000391950,;GPS2,downstream_gene_variant,,ENST00000389167,;EIF5A,non_coding_transcript_exon_variant,,ENST00000575001,;EIF5A,non_coding_transcript_exon_variant,,ENST00000355068,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572707,;GPS2,downstream_gene_variant,,ENST00000571098,;GPS2,downstream_gene_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;	159	59	64	SUCCESS
RECQL5	9400	.	GRCh37	17	73625530	73625530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	36	102	0	ENST00000317905.5:c.1973G>T	p.Gly658Val	p.G658V	ENST00000317905	NM_004259.6	658	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42380.1	1973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACCAGCT	NONE	.	.	hmmpanther:PTHR13710:SF81,hmmpanther:PTHR13710,Pfam_domain:PF06959	.	.	ENSP00000317636	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000317905	Transcript	.	.	ENSG00000108469	9950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	RECQ5_HUMAN	RECQL5	HGNC	Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN	.	UPI0000133477	SNV	RECQL5,missense_variant,p.Gly631Val,ENST00000423245,;RECQL5,missense_variant,p.Gly658Val,ENST00000317905,;RECQL5,missense_variant,p.Gly147Val,ENST00000580707,;SMIM5,upstream_gene_variant,,ENST00000375215,;RECQL5,downstream_gene_variant,,ENST00000578201,;RECQL5,upstream_gene_variant,,ENST00000581825,;RECQL5,upstream_gene_variant,,ENST00000582548,;RECQL5,non_coding_transcript_exon_variant,,ENST00000443199,;MYO15B,downstream_gene_variant,,ENST00000577948,;MYO15B,downstream_gene_variant,,ENST00000580262,;RECQL5,downstream_gene_variant,,ENST00000583673,;MYO15B,downstream_gene_variant,,ENST00000580414,;SMIM5,upstream_gene_variant,,ENST00000581115,;MYO15B,downstream_gene_variant,,ENST00000578382,;MYO15B,downstream_gene_variant,,ENST00000578220,;MYO15B,downstream_gene_variant,,ENST00000577986,;RECQL5,downstream_gene_variant,,ENST00000585205,;RECQL5,downstream_gene_variant,,ENST00000582464,;RECQL5,downstream_gene_variant,,ENST00000579265,;RECQL5,upstream_gene_variant,,ENST00000578865,;	2133	102	141	SUCCESS
UNC13D	201294	.	GRCh37	17	73831523	73831523	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	47	88	0	ENST00000207549.4:c.1815G>T	p.Leu605=	p.L605=	ENST00000207549	NM_199242.2	605	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11730.1	1815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCCAGGGC	NONE	.	.	hmmpanther:PTHR15015:SF20,hmmpanther:PTHR15015,PROSITE_profiles:PS51258	.	.	ENSP00000207549	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000207549	Transcript	.	.	ENSG00000092929	23147	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13D_HUMAN	UNC13D	HGNC	K7EIH3_HUMAN	.	UPI000015FC91	SNV	UNC13D,synonymous_variant,p.%3D,ENST00000586147,;UNC13D,synonymous_variant,p.%3D,ENST00000207549,;UNC13D,synonymous_variant,p.%3D,ENST00000412096,;UNC13D,downstream_gene_variant,,ENST00000592386,;UNC13D,downstream_gene_variant,,ENST00000590762,;UNC13D,downstream_gene_variant,,ENST00000587504,;UNC13D,upstream_gene_variant,,ENST00000586930,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,upstream_gene_variant,,ENST00000591616,;UNC13D,upstream_gene_variant,,ENST00000590856,;UNC13D,downstream_gene_variant,,ENST00000587105,;	2195	88	107	SUCCESS
MFSD11	79157	.	GRCh37	17	74737143	74737143	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	72	0	ENST00000336509.4:c.257A>T	p.Tyr86Phe	p.Y86F	ENST00000336509	NM_001242533.1	86	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS11750.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTACAGGT	NONE	.	.	hmmpanther:PTHR23294,hmmpanther:PTHR23294:SF7,Gene3D:1.20.1250.20,Pfam_domain:PF05978,Superfamily_domains:SSF103473	.	.	ENSP00000464932	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000588460	Transcript	.	.	ENSG00000092931	25458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0.01)	.	MFS11_HUMAN	MFSD11	HGNC	K7ESK9_HUMAN,K7ELU3_HUMAN	.	UPI0000073F31	SNV	MFSD11,missense_variant,p.Tyr86Phe,ENST00000336509,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000593181,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000586622,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000587661,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000588460,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000355954,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000590514,;SRSF2,upstream_gene_variant,,ENST00000392485,;SRSF2,upstream_gene_variant,,ENST00000358156,;SRSF2,upstream_gene_variant,,ENST00000583836,;MFSD11,downstream_gene_variant,,ENST00000591864,;SRSF2,upstream_gene_variant,,ENST00000508921,;RP11-318A15.7,downstream_gene_variant,,ENST00000587459,;MFSD11,downstream_gene_variant,,ENST00000586689,;MFSD11,downstream_gene_variant,,ENST00000590393,;SRSF2,upstream_gene_variant,,ENST00000359995,;MIR636,upstream_gene_variant,,ENST00000384825,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000588031,;MFSD11,missense_variant,p.Tyr67Phe,ENST00000588768,;MFSD11,missense_variant,p.Tyr86Phe,ENST00000588670,;SRSF2,upstream_gene_variant,,ENST00000582449,;MFSD11,upstream_gene_variant,,ENST00000585584,;SRSF2,upstream_gene_variant,,ENST00000592676,;SRSF2,upstream_gene_variant,,ENST00000452355,;SRSF2,upstream_gene_variant,,ENST00000585202,;	2299	72	77	SUCCESS
LAMA3	3909	.	GRCh37	18	21441694	21441694	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1247572677	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	58	0	ENST00000313654.9:c.4507G>A	p.Val1503Met	p.V1503M	ENST00000313654	NM_198129.1	1503	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS42419.1	4507	RADIA|MUTECT|MUSE	.	GTATGGTGGCG	NONE	.	.	PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	35/75	.	.	.	.	.	.	.	.	.	35/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Val1503Met,ENST00000313654,;LAMA3,missense_variant,p.Val1503Met,ENST00000399516,;	4748	58	80	SUCCESS
SAMD1	90378	.	GRCh37	19	14200958	14200958	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	29	0	ENST00000533683.2:c.275C>T	p.Ser92Leu	p.S92L	ENST00000533683	NM_138352.1	92	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	.	275	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTACGAGATG	NONE	.	.	hmmpanther:PTHR12247	.	.	ENSP00000431971	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000533683	Transcript	.	.	ENSG00000141858	17958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	.	SAMD1	HGNC	F8WDT5_HUMAN,E9PIW9_HUMAN	.	UPI0000366D4A	SNV	SAMD1,missense_variant,p.Ser92Leu,ENST00000533683,;SAMD1,intron_variant,,ENST00000269724,;C19orf67,upstream_gene_variant,,ENST00000548523,;PRKACA,downstream_gene_variant,,ENST00000590853,;C19orf67,upstream_gene_variant,,ENST00000343945,;PRKACA,downstream_gene_variant,,ENST00000589994,;PRKACA,downstream_gene_variant,,ENST00000308677,;PRKACA,downstream_gene_variant,,ENST00000587372,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;PRKACA,downstream_gene_variant,,ENST00000588209,;	563	29	17	SUCCESS
NCAN	1463	.	GRCh37	19	19345806	19345806	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374113750	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	55	0	ENST00000252575.6:c.3151C>G	p.Leu1051Val	p.L1051V	ENST00000252575	NM_004386.2	1051	Ctc/Gtc	0	T:0	.	.	.	.	G	L/V	protein_coding	YES	CCDS12397.1	3151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCTCTGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50026,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24,PROSITE_patterns:PS00022,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF56436	.	T:0.0001	ENSP00000252575	.	10/15	.	.	.	.	.	.	.	.	rs374113750	10/15	PASS	ENST00000252575	Transcript	.	.	ENSG00000130287	2465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.81)	.	NCAN_HUMAN	NCAN	HGNC	Q4LE67_HUMAN,F5H7X3_HUMAN	.	UPI000013CD70	SNV	NCAN,missense_variant,p.Leu502Val,ENST00000538881,;NCAN,missense_variant,p.Leu1051Val,ENST00000252575,;NCAN,upstream_gene_variant,,ENST00000588231,;RNU6-1028P,downstream_gene_variant,,ENST00000517164,;NCAN,non_coding_transcript_exon_variant,,ENST00000590187,;NCAN,upstream_gene_variant,,ENST00000585410,;	3250	55	50	SUCCESS
PPAP2C	0	.	GRCh37	19	287716	287716	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	100	0	ENST00000434325.2:c.72C>T	p.Asp24=	p.D24=	ENST00000434325		24	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS12024.1	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGTCTGT	NONE	.	.	hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000329697	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,synonymous_variant,p.%3D,ENST00000327790,;PPAP2C,synonymous_variant,p.%3D,ENST00000269812,;PPAP2C,synonymous_variant,p.%3D,ENST00000434325,;PPAP2C,synonymous_variant,p.%3D,ENST00000591572,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,non_coding_transcript_exon_variant,,ENST00000589672,;	407	100	75	SUCCESS
WDR87	83889	.	GRCh37	19	38376879	38376883	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCT	CTTCT	-	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	CTTCT	CTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	106	42	75	0	ENST00000303868.5:c.7311_7315del	p.Arg2437SerfsTer6	p.R2437Sfs*6	ENST00000303868	NM_031951.3	2437	agAGAAGtg/agtg	0	.	.	.	.	.	-	REV/SX	protein_coding	YES	CCDS46063.1	7311-7315	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATCACTTCTCTTTC	NONE	.	.	.	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	deletion	WDR87,frameshift_variant,p.Arg2476SerfsTer6,ENST00000447313,;WDR87,frameshift_variant,p.Arg2437SerfsTer6,ENST00000303868,;	7536-7540	75	148	SUCCESS
RPS16	6217	.	GRCh37	19	39924221	39924222	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	DEL	AC	AC	-	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	89	20	88	0	ENST00000251453.3:c.248-13_248-12del		p.*83*	ENST00000251453	NM_001020.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12535.1	.	VARSCANI*|PINDEL	.	AGAAAGACACACA	NONE	.	.	.	.	.	ENSP00000251453	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251453	Transcript	.	.	ENSG00000105193	10396	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS16_HUMAN	RPS16	HGNC	.	.	UPI0000003EDD	deletion	RPS16,frameshift_variant,p.Ser111PhefsTer68,ENST00000339471,;RPS16,intron_variant,,ENST00000251453,;RPS16,intron_variant,,ENST00000599539,;RPS16,intron_variant,,ENST00000602153,;RPS16,intron_variant,,ENST00000601655,;RPS16,intron_variant,,ENST00000599705,;SUPT5H,upstream_gene_variant,,ENST00000594990,;RPS16,non_coding_transcript_exon_variant,,ENST00000595386,;RPS16,intron_variant,,ENST00000601390,;	.	88	109	SUCCESS
PLD3	23646	.	GRCh37	19	40875888	40875888	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	87	0	ENST00000356508.5:c.503C>G	p.Pro168Arg	p.P168R	ENST00000356508	NM_001031696.2	168	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS33027.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCCCAGCG	NONE	.	.	hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000387050	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000409587	Transcript	.	.	ENSG00000105223	17158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.82)	.	deleterious(0.02)	.	PLD3_HUMAN	PLD3	HGNC	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN	.	UPI000004FA75	SNV	PLD3,missense_variant,p.Pro168Arg,ENST00000594908,;PLD3,missense_variant,p.Pro168Arg,ENST00000409419,;PLD3,missense_variant,p.Pro168Arg,ENST00000359274,;PLD3,missense_variant,p.Pro168Arg,ENST00000409587,;PLD3,missense_variant,p.Pro168Arg,ENST00000409735,;PLD3,missense_variant,p.Pro168Arg,ENST00000409281,;PLD3,missense_variant,p.Pro168Arg,ENST00000356508,;PLD3,intron_variant,,ENST00000599353,;PLD3,downstream_gene_variant,,ENST00000598962,;PLD3,downstream_gene_variant,,ENST00000602131,;PLD3,upstream_gene_variant,,ENST00000596470,;PLD3,downstream_gene_variant,,ENST00000599685,;PLD3,downstream_gene_variant,,ENST00000392032,;PLD3,downstream_gene_variant,,ENST00000600948,;PLD3,downstream_gene_variant,,ENST00000596682,;PLD3,downstream_gene_variant,,ENST00000600479,;PLD3,downstream_gene_variant,,ENST00000594085,;PLD3,3_prime_UTR_variant,,ENST00000492243,;PLD3,non_coding_transcript_exon_variant,,ENST00000480030,;PLD3,downstream_gene_variant,,ENST00000493006,;PLD3,upstream_gene_variant,,ENST00000475983,;PLD3,downstream_gene_variant,,ENST00000485448,;PLD3,downstream_gene_variant,,ENST00000464586,;	900	87	87	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51958750	51958750	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	39	116	0	ENST00000321424.3:c.973G>T	p.Glu325Ter	p.E325*	ENST00000321424	NM_014442.2	325	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS33086.1	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTCCCCTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000321077	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,stop_gained,p.Glu232Ter,ENST00000340550,;SIGLEC8,stop_gained,p.Glu325Ter,ENST00000321424,;SIGLEC8,stop_gained,p.Glu216Ter,ENST00000430817,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	1040	116	120	SUCCESS
ZNF468	90333	.	GRCh37	19	53344837	53344837	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	49	0	ENST00000595646.1:c.710A>C	p.His237Pro	p.H237P	ENST00000595646		237	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS33094.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGTGAATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF14,hmmpanther:PTHR24407,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000470381	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000595646	Transcript	.	.	ENSG00000204604	33105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	deleterious(0.01)	.	ZN468_HUMAN	ZNF468	HGNC	.	.	UPI00001D8191	SNV	ZNF468,missense_variant,p.His184Pro,ENST00000390651,;ZNF468,missense_variant,p.His184Pro,ENST00000396409,;ZNF468,missense_variant,p.His237Pro,ENST00000595646,;ZNF468,3_prime_UTR_variant,,ENST00000243639,;ZNF28,intron_variant,,ENST00000596559,;ZNF28,intron_variant,,ENST00000594602,;ZNF468,downstream_gene_variant,,ENST00000601847,;ZNF468,downstream_gene_variant,,ENST00000597924,;ZNF468,downstream_gene_variant,,ENST00000601980,;ZNF468,downstream_gene_variant,,ENST00000602144,;	831	49	86	SUCCESS
ZNF347	84671	.	GRCh37	19	53645787	53645787	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	40	0	ENST00000334197.7:c.294G>A	p.Met98Ile	p.M98I	ENST00000334197	NM_032584.2	98	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS54314.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCATTAC	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95	.	.	ENSP00000405218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,missense_variant,p.Met40Ile,ENST00000597183,;ZNF347,missense_variant,p.Met99Ile,ENST00000601469,;ZNF347,missense_variant,p.Met98Ile,ENST00000334197,;ZNF347,missense_variant,p.Met99Ile,ENST00000452676,;ZNF347,missense_variant,p.Met62Ile,ENST00000595967,;ZNF347,intron_variant,,ENST00000601804,;	724	40	61	SUCCESS
CAMSAP3	57662	.	GRCh37	19	7670161	7670161	+	synonymous_variant	Silent	SNP	G	G	T	rs775060609	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	45	159	0	ENST00000160298.4:c.198G>T	p.Ala66=	p.A66=	ENST00000160298	NM_020902.1	66	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45947.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGCGCAGGA	NONE	.	.	hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2	.	.	ENSP00000416797	.	2/19	.	.	.	.	.	.	.	.	rs775060609	2/19	PASS	ENST00000446248	Transcript	.	.	ENSG00000076826	29307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAMP3_HUMAN	CAMSAP3	HGNC	Q8WZ12_HUMAN,D6W648_HUMAN	.	UPI0000161861	SNV	CAMSAP3,synonymous_variant,p.%3D,ENST00000160298,;CAMSAP3,synonymous_variant,p.%3D,ENST00000446248,;	299	159	126	SUCCESS
WDR18	57418	.	GRCh37	19	989770	989770	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	G	rs757724277	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	45	0	ENST00000585809.1:c.300C>G	p.Thr100=	p.T100=	ENST00000585809		100	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12051.1	330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCGGGAA	BUFFER|p.L113F|c.337C>T|3	byFrequency	.	PROSITE_profiles:PS50294,hmmpanther:PTHR18763,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000251289	.	3/10	.	.	.	.	.	.	.	.	rs757724277	3/10	PASS	ENST00000251289	Transcript	.	.	ENSG00000065268	17956	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR18_HUMAN	WDR18	HGNC	.	.	UPI000013CCF7	SNV	WDR18,synonymous_variant,p.%3D,ENST00000607440,;WDR18,synonymous_variant,p.%3D,ENST00000251289,;WDR18,synonymous_variant,p.%3D,ENST00000587001,;WDR18,upstream_gene_variant,,ENST00000590354,;WDR18,non_coding_transcript_exon_variant,,ENST00000591997,;WDR18,missense_variant,p.Pro14Arg,ENST00000590397,;WDR18,synonymous_variant,p.%3D,ENST00000591985,;WDR18,synonymous_variant,p.%3D,ENST00000585809,;WDR18,non_coding_transcript_exon_variant,,ENST00000586317,;WDR18,upstream_gene_variant,,ENST00000591276,;WDR18,upstream_gene_variant,,ENST00000591155,;	353	45	53	SUCCESS
COL11A1	1301	.	GRCh37	1	103444972	103444972	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770823842	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	56	96	0	ENST00000370096.3:c.2576G>T	p.Gly859Val	p.G859V	ENST00000370096	NM_001854.3	859	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS778.1	2576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCCAGGG	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	32/67	.	.	.	.	.	.	.	.	rs770823842	32/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly743Val,ENST00000512756,;COL11A1,missense_variant,p.Gly820Val,ENST00000353414,;COL11A1,missense_variant,p.Gly859Val,ENST00000370096,;COL11A1,missense_variant,p.Gly871Val,ENST00000358392,;	2889	96	202	SUCCESS
MASP2	10747	.	GRCh37	1	11102990	11102990	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	91	0	ENST00000400897.3:c.831C>G	p.Thr277=	p.T277=	ENST00000400897	NM_006610.3	277	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS123.1	831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAGGTGAT	NONE	.	.	Superfamily_domains:SSF49854,PIRSF_domain:PIRSF001155,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF10,PROSITE_profiles:PS01180	.	.	ENSP00000383690	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000400897	Transcript	.	.	ENSG00000009724	6902	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MASP2_HUMAN	MASP2	HGNC	.	.	UPI0000161FB9	SNV	MASP2,synonymous_variant,p.%3D,ENST00000400897,;MASP2,downstream_gene_variant,,ENST00000400898,;MASP2,non_coding_transcript_exon_variant,,ENST00000478645,;MASP2,downstream_gene_variant,,ENST00000480221,;	847	91	80	SUCCESS
PRAMEF17	391004	.	GRCh37	1	13716876	13716876	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	87	142	0	ENST00000376098.4:c.363C>T	p.Ala121=	p.A121=	ENST00000376098	NM_001099851.1	121	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS41264.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCCTCTC	NONE	.	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224	.	.	ENSP00000365266	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000376098	Transcript	.	.	ENSG00000204479	29485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRA17_HUMAN	PRAMEF17	HGNC	.	.	UPI0000458AD3	SNV	PRAMEF17,synonymous_variant,p.%3D,ENST00000376098,;	389	142	204	SUCCESS
PRKAB2	5565	.	GRCh37	1	146633353	146633353	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	76	95	0	ENST00000254101.3:c.679C>G	p.Pro227Ala	p.P227A	ENST00000254101	NM_005399.4	227	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS925.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGTCAC	NONE	.	.	hmmpanther:PTHR10343:SF43,hmmpanther:PTHR10343,Pfam_domain:PF04739,SMART_domains:SM01010,Superfamily_domains:SSF160219	.	.	ENSP00000254101	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000254101	Transcript	.	.	ENSG00000131791	9379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	AAKB2_HUMAN	PRKAB2	HGNC	.	.	UPI00001250AF	SNV	PRKAB2,missense_variant,p.Pro227Ala,ENST00000254101,;PRKAB2,missense_variant,p.Pro145Ala,ENST00000425272,;PRKAB2,non_coding_transcript_exon_variant,,ENST00000496858,;PRKAB2,downstream_gene_variant,,ENST00000474939,;	818	96	258	SUCCESS
GABPB2	126626	.	GRCh37	1	151070417	151070417	+	synonymous_variant	Silent	SNP	G	G	A	rs770812873	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	43	137	0	ENST00000368918.3:c.561G>A	p.Thr187=	p.T187=	ENST00000368918	NM_144618.2	187	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS983.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGTCGGG	NONE	byFrequency	.	hmmpanther:PTHR24193,hmmpanther:PTHR24193:SF72	.	.	ENSP00000357914	.	5/9	.	.	.	.	.	.	.	.	rs770812873	5/9	PASS	ENST00000368918	Transcript	.	.	ENSG00000143458	28441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GABP2_HUMAN	GABPB2	HGNC	.	.	UPI000004C094	SNV	GABPB2,synonymous_variant,p.%3D,ENST00000368916,;GABPB2,synonymous_variant,p.%3D,ENST00000368917,;GABPB2,synonymous_variant,p.%3D,ENST00000368918,;GABPB2,non_coding_transcript_exon_variant,,ENST00000467551,;GABPB2,non_coding_transcript_exon_variant,,ENST00000486076,;GABPB2,non_coding_transcript_exon_variant,,ENST00000489549,;GABPB2,downstream_gene_variant,,ENST00000462520,;	892	137	179	SUCCESS
FLG2	388698	.	GRCh37	1	152326933	152326933	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	40	50	0	ENST00000388718.5:c.3329G>A	p.Gly1110Asp	p.G1110D	ENST00000388718	NM_001014342.2	1110	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS30861.1	3329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGACCTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Gly1110Asp,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	3402	50	182	SUCCESS
CD1B	910	.	GRCh37	1	158300831	158300831	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	219	83	143	0	ENST00000368168.3:c.83T>A	p.Phe28Tyr	p.F28Y	ENST00000368168	NM_001764.2	28	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS1176.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAAAGGAG	BUFFER|p.S27F|c.80C>T|3	.	.	hmmpanther:PTHR16675:SF130,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000357150	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.22)	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,missense_variant,p.Phe28Tyr,ENST00000368168,;CD1B,upstream_gene_variant,,ENST00000451207,;	191	143	302	SUCCESS
MROH9	80133	.	GRCh37	1	171033398	171033398	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs546065073	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	230	227	0	ENST00000367759.4:c.2503C>A	p.Pro835Thr	p.P835T	ENST00000367759	NM_001163629.1	835	Cct/Act	0	.	G:0	.	G:0	.	A	P/T	protein_coding	YES	CCDS53429.1	2503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCCTCTT	NONE	by1000G	.	Low_complexity_(Seg):seg	G:0.001	.	ENSP00000356733	G:0	22/22	.	.	.	.	.	.	.	.	rs546065073	22/22	PASS	ENST00000367759	Transcript	.	G:0.0002	ENSG00000117501	26287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	G:0	tolerated(0.11)	.	MROH9_HUMAN	MROH9	HGNC	.	.	UPI0001B09232	SNV	MROH9,missense_variant,p.Pro835Thr,ENST00000367759,;	2657	227	460	SUCCESS
MROH9	80133	.	GRCh37	1	171033399	171033399	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	228	227	0	ENST00000367759.4:c.2504C>A	p.Pro835His	p.P835H	ENST00000367759	NM_001163629.1	835	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS53429.1	2504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCTCTTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000356733	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000367759	Transcript	.	.	ENSG00000117501	26287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0.02)	.	MROH9_HUMAN	MROH9	HGNC	.	.	UPI0001B09232	SNV	MROH9,missense_variant,p.Pro835His,ENST00000367759,;	2658	227	458	SUCCESS
PADI2	11240	.	GRCh37	1	17395676	17395676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1268779053	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	45	80	0	ENST00000375486.4:c.1861C>T	p.Leu621Phe	p.L621F	ENST00000375486	NM_007365.2	621	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS177.1	1861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGGCCAC	NONE	.	.	hmmpanther:PTHR10837:SF1,hmmpanther:PTHR10837,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364635	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000375486	Transcript	.	.	ENSG00000117115	18341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	PADI2_HUMAN	PADI2	HGNC	Q96DA7_HUMAN	.	UPI00001314AF	SNV	PADI2,missense_variant,p.Leu621Phe,ENST00000375486,;PADI2,missense_variant,p.Leu505Phe,ENST00000444885,;PADI2,non_coding_transcript_exon_variant,,ENST00000479534,;PADI2,non_coding_transcript_exon_variant,,ENST00000466151,;	1925	80	126	SUCCESS
TNR	7143	.	GRCh37	1	175360435	175360435	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	51	0	ENST00000263525.2:c.1496G>A	p.Ser499Asn	p.S499N	ENST00000263525	NM_003285.2	499	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS1318.1	1496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACGCTGGCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.65)	.	tolerated(0.36)	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Ser499Asn,ENST00000367674,;TNR,missense_variant,p.Ser499Asn,ENST00000263525,;TNR,downstream_gene_variant,,ENST00000422274,;	2205	51	98	SUCCESS
MEGF6	1953	.	GRCh37	1	3407516	3407516	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	55	0	ENST00000356575.4:c.4524C>T	p.Pro1508=	p.P1508=	ENST00000356575	NM_001409.3	1508	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS41237.1	4524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGGGGCCC	NONE	.	.	hmmpanther:PTHR24035:SF29,hmmpanther:PTHR24035	.	.	ENSP00000348982	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000356575	Transcript	.	.	ENSG00000162591	3232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,synonymous_variant,p.%3D,ENST00000356575,;MEGF6,synonymous_variant,p.%3D,ENST00000294599,;MEGF6,synonymous_variant,p.%3D,ENST00000491842,;RP11-168F9.2,downstream_gene_variant,,ENST00000606489,;MEGF6,non_coding_transcript_exon_variant,,ENST00000494257,;MEGF6,intron_variant,,ENST00000485002,;MEGF6,downstream_gene_variant,,ENST00000475790,;MEGF6,downstream_gene_variant,,ENST00000461795,;	4751	55	46	SUCCESS
KIAA0754	23499	.	GRCh37	1	39878210	39878210	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	61	154	1	ENST00000530275.1:c.1865C>T	p.Ser622Leu	p.S622L	ENST00000530275	NM_015038.1	622	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	.	1865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTCAGAGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000431179	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530275	Transcript	.	.	ENSG00000255103	29111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	K0754_HUMAN	KIAA0754	HGNC	.	.	UPI0000DD78B2	SNV	KIAA0754,missense_variant,p.Ser622Leu,ENST00000530275,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;MACF1,upstream_gene_variant,,ENST00000482035,;	2060	155	156	SUCCESS
ELOVL1	64834	.	GRCh37	1	43830911	43830911	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	57	188	0	ENST00000372458.3:c.183C>T	p.Phe61=	p.F61=	ENST00000372458	NM_001256402.1	61	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS485.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATGAAGCC	NONE	.	.	Pfam_domain:PF01151,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF19	.	.	ENSP00000361536	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000372458	Transcript	.	.	ENSG00000066322	14418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOV1_HUMAN	ELOVL1	HGNC	.	.	UPI00001196CE	SNV	ELOVL1,synonymous_variant,p.%3D,ENST00000413844,;ELOVL1,synonymous_variant,p.%3D,ENST00000372458,;CDC20,downstream_gene_variant,,ENST00000310955,;CDC20,downstream_gene_variant,,ENST00000372462,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000468865,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000482302,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000465321,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000496932,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000497050,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000470769,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000479439,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000470968,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000464204,;ELOVL1,non_coding_transcript_exon_variant,,ENST00000497569,;ELOVL1,intron_variant,,ENST00000487209,;ELOVL1,intron_variant,,ENST00000479686,;CDC20,downstream_gene_variant,,ENST00000482046,;ELOVL1,upstream_gene_variant,,ENST00000478481,;CDC20,downstream_gene_variant,,ENST00000478882,;	301	188	178	SUCCESS
KDM4A	9682	.	GRCh37	1	44170005	44170005	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	rs747116677	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	75	0	ENST00000372396.3:c.3159T>G	p.Tyr1053Ter	p.Y1053*	ENST00000372396	NM_014663.2	1053	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS491.1	3159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTATATTGA	NONE	byFrequency	.	.	.	.	ENSP00000361473	.	22/22	.	.	.	.	.	.	.	.	rs747116677	22/22	PASS	ENST00000372396	Transcript	.	.	ENSG00000066135	22978	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM4A_HUMAN	KDM4A	HGNC	B4DGH3_HUMAN	.	UPI000013D35A	SNV	KDM4A,stop_gained,p.Tyr1053Ter,ENST00000372396,;ST3GAL3,upstream_gene_variant,,ENST00000353126,;ST3GAL3,upstream_gene_variant,,ENST00000372375,;ST3GAL3,upstream_gene_variant,,ENST00000347631,;ST3GAL3,upstream_gene_variant,,ENST00000351035,;ST3GAL3,upstream_gene_variant,,ENST00000262915,;ST3GAL3,upstream_gene_variant,,ENST00000361400,;ST3GAL3,upstream_gene_variant,,ENST00000372374,;ST3GAL3,upstream_gene_variant,,ENST00000372377,;ST3GAL3,upstream_gene_variant,,ENST00000330208,;ST3GAL3,upstream_gene_variant,,ENST00000545417,;ST3GAL3,upstream_gene_variant,,ENST00000335430,;ST3GAL3,upstream_gene_variant,,ENST00000361392,;KDM4A-AS1,non_coding_transcript_exon_variant,,ENST00000418149,;KDM4A-AS1,intron_variant,,ENST00000434346,;KDM4A-AS1,intron_variant,,ENST00000398804,;KDM4A-AS1,intron_variant,,ENST00000439057,;KDM4A-AS1,intron_variant,,ENST00000453015,;ST3GAL3,upstream_gene_variant,,ENST00000484868,;ST3GAL3,upstream_gene_variant,,ENST00000532911,;ST3GAL3,upstream_gene_variant,,ENST00000530154,;ST3GAL3,upstream_gene_variant,,ENST00000461066,;ST3GAL3,upstream_gene_variant,,ENST00000479383,;ST3GAL3,upstream_gene_variant,,ENST00000489897,;	3293	75	90	SUCCESS
C8B	732	.	GRCh37	1	57395082	57395082	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	29	0	ENST00000371237.4:c.1771T>G	p.Ser591Ala	p.S591A	ENST00000371237	NM_000066.3	591	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS30730.1	1771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGAGCAGT	NONE	.	.	PROSITE_profiles:PS50092,SMART_domains:SM00209	.	.	ENSP00000360281	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000371237	Transcript	.	.	ENSG00000021852	1353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	deleterious_low_confidence(0)	.	CO8B_HUMAN	C8B	HGNC	F5H7G1_HUMAN	.	UPI000013C9B2	SNV	C8B,missense_variant,p.Ser529Ala,ENST00000535057,;C8B,missense_variant,p.Ser539Ala,ENST00000543257,;C8B,missense_variant,p.Ser591Ala,ENST00000371237,;C8B,downstream_gene_variant,,ENST00000465658,;	1838	29	72	SUCCESS
LRRC7	57554	.	GRCh37	1	70504820	70504820	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758326913	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	36	73	0	ENST00000035383.5:c.3199G>C	p.Ala1067Pro	p.A1067P	ENST00000035383	NM_020794.2	1067	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS645.1	3199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGCCAAG	NONE	byFrequency	.	.	.	.	ENSP00000035383	.	19/25	.	.	.	.	.	.	.	.	rs758326913,COSM195163	19/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(1)	0,1	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Ala351Pro,ENST00000415775,;LRRC7,missense_variant,p.Ala1067Pro,ENST00000035383,;LRRC7,missense_variant,p.Ala1072Pro,ENST00000310961,;	3229	73	133	SUCCESS
FAM73A	0	.	GRCh37	1	78280889	78280889	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	52	1	ENST00000370791.3:c.868G>T	p.Asp290Tyr	p.D290Y	ENST00000370791	NM_001270384.1	290	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS681.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGATCCT	NONE	.	.	hmmpanther:PTHR21508:SF3,hmmpanther:PTHR21508,Pfam_domain:PF10265	.	.	ENSP00000359827	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000370791	Transcript	.	.	ENSG00000180488	24741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0.01)	.	FA73A_HUMAN	FAM73A	HGNC	R4GMP2_HUMAN,B7ZLZ8_HUMAN	.	UPI00000722C6	SNV	FAM73A,missense_variant,p.Asp252Tyr,ENST00000443751,;FAM73A,missense_variant,p.Asp290Tyr,ENST00000370791,;FAM73A,non_coding_transcript_exon_variant,,ENST00000476203,;RP11-181C21.4,upstream_gene_variant,,ENST00000406534,;RP11-181C21.4,upstream_gene_variant,,ENST00000427577,;	900	53	81	SUCCESS
PTGFR	5737	.	GRCh37	1	78958702	78958702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	37	72	0	ENST00000370757.3:c.274T>C	p.Tyr92His	p.Y92H	ENST00000370757	NM_000959.3	92	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS686.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTATATGCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF4,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000359793	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370757	Transcript	.	.	ENSG00000122420	9600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	PF2R_HUMAN	PTGFR	HGNC	.	.	UPI0000001C40	SNV	PTGFR,missense_variant,p.Tyr92His,ENST00000370757,;PTGFR,missense_variant,p.Tyr92His,ENST00000370756,;PTGFR,missense_variant,p.Tyr92His,ENST00000370758,;PTGFR,missense_variant,p.Tyr92His,ENST00000497923,;	511	72	97	SUCCESS
SIRPG	55423	.	GRCh37	20	1629706	1629706	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370649250	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	48	0	ENST00000303415.3:c.422C>T	p.Ala141Val	p.A141V	ENST00000303415	NM_018556.3	141	gCt/gTt	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS13020.2	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGCCATC	NONE	.	.	hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	A:0	ENSP00000305529	.	2/6	.	.	.	.	.	.	.	.	rs370649250	2/6	PASS	ENST00000303415	Transcript	.	.	ENSG00000089012	15757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.13)	.	SIRPG_HUMAN	SIRPG	HGNC	.	.	UPI00001AE5FD	SNV	SIRPG,missense_variant,p.Ala141Val,ENST00000381583,;SIRPG,missense_variant,p.Ala108Val,ENST00000381580,;SIRPG,missense_variant,p.Ala141Val,ENST00000303415,;SIRPG,missense_variant,p.Ala141Val,ENST00000216927,;SIRPG,missense_variant,p.Ala141Val,ENST00000344103,;RP11-77C3.3,downstream_gene_variant,,ENST00000456177,;	487	48	105	SUCCESS
TMEM189	0	.	GRCh37	20	48770184	48770184	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	18	0	ENST00000557021.1:c.-10G>T		p.*4*	ENST00000557021	NM_199203.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13424.1	.	MUTECT|MUSE	.	ACTCGCCCGAT	NONE	.	.	.	.	.	ENSP00000450635	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000557021	Transcript	.	.	ENSG00000240849	16735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TMEM189	HGNC	G3V2F7_HUMAN	.	UPI0000367052	SNV	TMEM189,5_prime_UTR_variant,,ENST00000371652,;TMEM189,5_prime_UTR_variant,,ENST00000557021,;TMEM189,5_prime_UTR_variant,,ENST00000371650,;TMEM189-UBE2V1,upstream_gene_variant,,ENST00000341698,;TMEM189,5_prime_UTR_variant,,ENST00000453505,;TMEM189,upstream_gene_variant,,ENST00000371658,;	152	18	23	SUCCESS
TSHZ2	128553	.	GRCh37	20	51870043	51870043	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772450298	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	21	0	ENST00000371497.5:c.46G>A	p.Ala16Thr	p.A16T	ENST00000371497	NM_173485.5	16	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33490.1	46	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACGCCCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	.	.	ENSP00000360552	.	2/3	.	.	.	.	.	.	.	.	rs772450298	2/3	PASS	ENST00000371497	Transcript	.	.	ENSG00000182463	13010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	tolerated(0.36)	.	TSH2_HUMAN	TSHZ2	HGNC	S4R3C8_HUMAN	.	UPI0000206747	SNV	TSHZ2,missense_variant,p.Ala13Thr,ENST00000603338,;TSHZ2,missense_variant,p.Ala16Thr,ENST00000371497,;TSHZ2,missense_variant,p.Ala13Thr,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	933	21	41	SUCCESS
ZNF512B	57473	.	GRCh37	20	62592718	62592718	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	29	0	ENST00000217130.3:c.2371A>C	p.Lys791Gln	p.K791Q	ENST00000217130		791	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS13548.1	2371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTCGGAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000393795	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	SNV	ZNF512B,missense_variant,p.Lys791Gln,ENST00000450537,;ZNF512B,missense_variant,p.Lys791Gln,ENST00000217130,;ZNF512B,missense_variant,p.Lys791Gln,ENST00000369888,;UCKL1,upstream_gene_variant,,ENST00000354216,;UCKL1,upstream_gene_variant,,ENST00000358711,;UCKL1,upstream_gene_variant,,ENST00000369892,;	2432	29	30	SUCCESS
CLDN14	23562	.	GRCh37	21	37833541	37833541	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	72	0	ENST00000342108.2:c.453G>A	p.Leu151=	p.L151=	ENST00000342108	NM_001146077.1	151	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13645.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCAGCGG	NONE	.	.	hmmpanther:PTHR12002:SF82,hmmpanther:PTHR12002,Pfam_domain:PF00822	.	.	ENSP00000382090	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399137	Transcript	.	.	ENSG00000159261	2035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD14_HUMAN	CLDN14	HGNC	.	.	UPI0000048F0B	SNV	CLDN14,synonymous_variant,p.%3D,ENST00000342108,;CLDN14,synonymous_variant,p.%3D,ENST00000399136,;CLDN14,synonymous_variant,p.%3D,ENST00000399135,;CLDN14,synonymous_variant,p.%3D,ENST00000399139,;CLDN14,synonymous_variant,p.%3D,ENST00000399137,;AP000695.4,intron_variant,,ENST00000428667,;AP000695.6,intron_variant,,ENST00000429588,;AP000695.4,downstream_gene_variant,,ENST00000454980,;	1320	72	76	SUCCESS
C21orf88	0	.	GRCh37	21	40981545	40981545	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	37	0	ENST00000380612.4:c.117T>C	p.Pro39=	p.P39=	ENST00000380612		39	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	.	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGGCGG	NONE	.	.	.	.	.	ENSP00000369986	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000380612	Transcript	.	.	ENSG00000184809	16424	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CU088_HUMAN	C21orf88	HGNC	.	.	UPI00001AFA76	SNV	C21orf88,synonymous_variant,p.%3D,ENST00000329618,;C21orf88,synonymous_variant,p.%3D,ENST00000380604,;C21orf88,synonymous_variant,p.%3D,ENST00000380612,;B3GALT5,intron_variant,,ENST00000380620,;	193	37	35	SUCCESS
TRAPPC10	7109	.	GRCh37	21	45451995	45451995	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	61	0	ENST00000291574.4:c.91A>C	p.Thr31Pro	p.T31P	ENST00000291574	NM_003274.4	31	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS13704.1	91	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTACCTCT	NONE	.	.	hmmpanther:PTHR13251	.	.	ENSP00000291574	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000291574	Transcript	.	.	ENSG00000160218	11868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.323)	.	tolerated(0.05)	.	TPC10_HUMAN	TRAPPC10	HGNC	Q76NH5_HUMAN	.	UPI0000129E26	SNV	TRAPPC10,missense_variant,p.Thr31Pro,ENST00000291574,;TRAPPC10,missense_variant,p.Thr31Pro,ENST00000380221,;TRAPPC10,missense_variant,p.Thr31Pro,ENST00000422875,;	266	61	97	SUCCESS
IGLV3-27	28791	.	GRCh37	22	23011173	23011173	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs570338405	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	66	0	ENST00000390304.2:c.236G>A	p.Arg79Gln	p.R79Q	ENST00000390304		79	cGa/cAa	0	.	A:0.0015	.	A:0	.	A	R/Q	IG_V_gene	YES	.	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGATTCT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF51,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	A:0.001	.	ENSP00000374839	A:0	2/2	.	.	.	.	.	.	.	.	rs570338405	2/2	PASS	ENST00000390304	Transcript	.	A:0.0006	ENSG00000211658	5910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.533)	A:0	deleterious(0.04)	.	.	IGLV3-27	HGNC	.	.	UPI000173A2C8	SNV	IGLV3-27,missense_variant,p.Arg79Gln,ENST00000390304,;D86994.2,downstream_gene_variant,,ENST00000385099,;IGLV2-28,downstream_gene_variant,,ENST00000520681,;IGLV3-26,upstream_gene_variant,,ENST00000520756,;	274	66	73	SUCCESS
IGLL5	100423062	.	GRCh37	22	23230126	23230126	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs555952043	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	90	0	ENST00000526893.1:c.-108G>A		p.*36*	ENST00000526893	NM_001178126.1			0	.	C:0.0008	.	C:0	.	A	.	protein_coding	YES	CCDS54506.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGGACTGG	NONE	by1000G	.	.	C:0	.	ENSP00000431254	C:0	1/3	.	.	.	.	.	.	.	.	rs555952043	1/3	PASS	ENST00000526893	Transcript	.	C:0.0002	ENSG00000254709	38476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	LAC1_HUMAN,IGLL5_HUMAN	IGLL5	HGNC	A0M8Q9_HUMAN	.	UPI0000119C74	SNV	IGLL5,5_prime_UTR_variant,,ENST00000532223,;IGLL5,5_prime_UTR_variant,,ENST00000526893,;IGLL5,5_prime_UTR_variant,,ENST00000531372,;hsa-mir-5571,downstream_gene_variant,,ENST00000577998,;	167	90	103	SUCCESS
GNAZ	2781	.	GRCh37	22	23437953	23437953	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs781475556	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	130	0	ENST00000248996.4:c.71G>C	p.Arg24Pro	p.R24P	ENST00000248996	NM_002073.2	24	cGc/cCc	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS13804.1	71	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGCTCAG	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF65,hmmpanther:PTHR10218	.	.	ENSP00000248996	.	2/3	.	.	.	.	.	.	.	.	rs781475556	2/3	PASS	ENST00000248996	Transcript	.	.	ENSG00000128266	4395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	GNAZ_HUMAN	GNAZ	HGNC	.	.	UPI0000001249	SNV	GNAZ,missense_variant,p.Arg24Pro,ENST00000248996,;RTDR1,intron_variant,,ENST00000216036,;GNAZ,downstream_gene_variant,,ENST00000492538,;	737	130	84	SUCCESS
GGT5	2687	.	GRCh37	22	24640830	24640830	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	34	0	ENST00000327365.4:c.-137C>T		p.*46*	ENST00000327365	NM_001099781.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42990.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGACAGACACG	NONE	.	.	.	.	.	ENSP00000381340	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000398292	Transcript	.	.	ENSG00000099998	4260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GGT5_HUMAN	GGT5	HGNC	.	.	UPI00003B5CB9	SNV	GGT5,5_prime_UTR_variant,,ENST00000424217,;GGT5,5_prime_UTR_variant,,ENST00000398292,;GGT5,5_prime_UTR_variant,,ENST00000263112,;GGT5,5_prime_UTR_variant,,ENST00000418439,;GGT5,5_prime_UTR_variant,,ENST00000327365,;AP000354.4,downstream_gene_variant,,ENST00000402176,;	198	34	31	SUCCESS
APOBEC3A	200315	.	GRCh37	22	39357505	39357505	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs373904674	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	59	0	ENST00000249116.2:c.288C>G	p.Ile96Met	p.I96M	ENST00000249116	NM_145699.3	96	atC/atG	0	A:0	A:0	.	A:0	.	G	I/M	protein_coding	YES	CCDS13981.1	288	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCTCCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR13857:SF14,hmmpanther:PTHR13857,PROSITE_patterns:PS00903,Superfamily_domains:SSF53927	A:0	A:0.0001	ENSP00000384359	A:0.001	4/6	.	.	.	.	.	.	.	.	rs373904674	4/6	PASS	ENST00000402255	Transcript	.	A:0.0002	ENSG00000128383	17343	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	A:0	tolerated(0.11)	.	ABC3A_HUMAN	APOBEC3A	HGNC	.	.	UPI00001318F4	SNV	APOBEC3A,missense_variant,p.Ile96Met,ENST00000249116,;APOBEC3A,missense_variant,p.Ile96Met,ENST00000402255,;APOBEC3A,downstream_gene_variant,,ENST00000488758,;	492	59	53	SUCCESS
MGAT3	4248	.	GRCh37	22	39884249	39884249	+	synonymous_variant	Silent	SNP	C	C	T	rs148481219	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	32	0	ENST00000341184.6:c.897C>T	p.Asp299=	p.D299=	ENST00000341184	NM_002409.4	299	gaC/gaT	0	T:0.0016	T:0.0015	.	T:0	.	T	D	protein_coding	YES	CCDS13994.2	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGGCGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12224,hmmpanther:PTHR12224:SF0,Pfam_domain:PF04724	T:0	T:0	ENSP00000345270	T:0.001	2/2	.	.	.	.	.	.	.	.	rs148481219	2/2	PASS	ENST00000341184	Transcript	.	T:0.0006	ENSG00000128268	7046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,synonymous_variant,p.%3D,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	1112	32	32	SUCCESS
SCO2	9997	.	GRCh37	22	50962567	50962567	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	51	0	ENST00000252785.3:c.274G>A	p.Glu92Lys	p.E92K	ENST00000252785	NM_001169111.1	92	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS14095.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCTGTTC	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR12151,hmmpanther:PTHR12151:SF2,Gene3D:3.40.30.10,Pfam_domain:PF02630,PIRSF_domain:PIRSF037736	.	.	ENSP00000444433	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000543927	Transcript	.	.	ENSG00000130489	10604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.29)	.	SCO2_HUMAN	SCO2	HGNC	C9JBU1_HUMAN	.	UPI000013566C	SNV	SCO2,missense_variant,p.Glu92Lys,ENST00000395693,;SCO2,missense_variant,p.Glu92Lys,ENST00000252785,;SCO2,missense_variant,p.Glu92Lys,ENST00000423348,;SCO2,missense_variant,p.Glu92Lys,ENST00000543927,;SCO2,missense_variant,p.Glu92Lys,ENST00000535425,;SCO2,missense_variant,p.Glu92Lys,ENST00000439934,;NCAPH2,downstream_gene_variant,,ENST00000523045,;NCAPH2,downstream_gene_variant,,ENST00000395701,;NCAPH2,downstream_gene_variant,,ENST00000420993,;NCAPH2,downstream_gene_variant,,ENST00000522304,;TYMP,downstream_gene_variant,,ENST00000425169,;NCAPH2,downstream_gene_variant,,ENST00000395698,;TYMP,downstream_gene_variant,,ENST00000252029,;TYMP,downstream_gene_variant,,ENST00000395678,;TYMP,downstream_gene_variant,,ENST00000395681,;NCAPH2,downstream_gene_variant,,ENST00000299821,;TYMP,downstream_gene_variant,,ENST00000395680,;CTA-384D8.36,non_coding_transcript_exon_variant,,ENST00000608319,;NCAPH2,downstream_gene_variant,,ENST00000520297,;TYMP,downstream_gene_variant,,ENST00000487577,;TYMP,downstream_gene_variant,,ENST00000487162,;TYMP,downstream_gene_variant,,ENST00000476284,;NCAPH2,downstream_gene_variant,,ENST00000522048,;	481	51	52	SUCCESS
LCT	3938	.	GRCh37	2	136555611	136555611	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	36	0	ENST00000264162.2:c.4964T>C	p.Leu1655Pro	p.L1655P	ENST00000264162	NM_002299.2	1655	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2178.1	4964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGAGGCCT	NONE	.	.	hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445	.	.	ENSP00000264162	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000264162	Transcript	.	.	ENSG00000115850	6530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	LPH_HUMAN	LCT	HGNC	.	.	UPI000013D4D2	SNV	LCT,missense_variant,p.Leu1655Pro,ENST00000264162,;LCT,3_prime_UTR_variant,,ENST00000452974,;	4975	36	39	SUCCESS
FMNL2	114793	.	GRCh37	2	153399308	153399308	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	35	62	0	ENST00000288670.9:c.257A>G	p.Tyr86Cys	p.Y86C	ENST00000288670	NM_052905.3	86	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46429.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTATCTGG	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06371,Superfamily_domains:SSF48371	.	.	ENSP00000288670	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,missense_variant,p.Tyr86Cys,ENST00000288670,;RP11-17G11.1,upstream_gene_variant,,ENST00000605605,;	624	62	114	SUCCESS
CYTIP	9595	.	GRCh37	2	158272637	158272637	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs374851359	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	49	0	ENST00000264192.3:c.632C>G	p.Pro211Arg	p.P211R	ENST00000264192	NM_004288.4	211	cCc/cGc	0	T:0.0002	.	.	.	.	C	P/R	protein_coding	YES	CCDS2204.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGGGCAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF1	.	T:0	ENSP00000264192	.	8/8	.	.	.	.	.	.	.	.	rs374851359,COSM359547	8/8	PASS	ENST00000264192	Transcript	.	.	ENSG00000115165	9506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.157)	.	deleterious(0.02)	0,1	CYTIP_HUMAN	CYTIP	HGNC	C9JSM2_HUMAN,C9JRF8_HUMAN,C9JNN8_HUMAN,B4DWH9_HUMAN	.	UPI0000035D67	SNV	CYTIP,missense_variant,p.Pro211Arg,ENST00000264192,;CYTIP,missense_variant,p.Pro105Arg,ENST00000540637,;CYTIP,missense_variant,p.Pro105Arg,ENST00000418920,;CYTIP,3_prime_UTR_variant,,ENST00000457793,;	754	49	80	SUCCESS
STAT1	6772	.	GRCh37	2	191854348	191854348	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759722579	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	307	169	369	0	ENST00000361099.3:c.1090T>C	p.Phe364Leu	p.F364L	ENST00000361099	NM_007315.3	364	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS2309.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAATAAGA	NONE	byFrequency	.	Superfamily_domains:SSF49417,Pfam_domain:PF02864,Gene3D:2.60.40.630,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF18	.	.	ENSP00000354394	.	12/25	.	.	.	.	.	.	.	.	rs759722579	12/25	PASS	ENST00000361099	Transcript	.	.	ENSG00000115415	11362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	tolerated(0.24)	.	STAT1_HUMAN	STAT1	HGNC	Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN	.	UPI00000473FB	SNV	STAT1,missense_variant,p.Phe366Leu,ENST00000392323,;STAT1,missense_variant,p.Phe364Leu,ENST00000409465,;STAT1,missense_variant,p.Phe364Leu,ENST00000392322,;STAT1,missense_variant,p.Phe364Leu,ENST00000361099,;STAT1,3_prime_UTR_variant,,ENST00000540176,;STAT1,3_prime_UTR_variant,,ENST00000452281,;AC067945.3,downstream_gene_variant,,ENST00000342609,;	1478	369	476	SUCCESS
AAMP	14	.	GRCh37	2	219134201	219134201	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754435292	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	38	97	0	ENST00000248450.4:c.178G>A	p.Gly60Ser	p.G60S	ENST00000248450		60	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS33378.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCCTCTT	NONE	.	.	hmmpanther:PTHR19857:SF17,hmmpanther:PTHR19857,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000248450	.	2/11	.	.	.	.	.	.	.	.	rs754435292	2/11	PASS	ENST00000248450	Transcript	.	.	ENSG00000127837	18	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.32)	.	AAMP_HUMAN	AAMP	HGNC	C9JTS3_HUMAN	.	UPI0000209584	SNV	AAMP,missense_variant,p.Gly41Ser,ENST00000420660,;AAMP,missense_variant,p.Gly61Ser,ENST00000444053,;AAMP,missense_variant,p.Gly60Ser,ENST00000248450,;AAMP,missense_variant,p.Gly14Ser,ENST00000447885,;AAMP,upstream_gene_variant,,ENST00000422731,;TMBIM1,downstream_gene_variant,,ENST00000444881,;TMBIM1,downstream_gene_variant,,ENST00000396809,;TMBIM1,downstream_gene_variant,,ENST00000258412,;PNKD,upstream_gene_variant,,ENST00000248451,;PNKD,upstream_gene_variant,,ENST00000273077,;PNKD,upstream_gene_variant,,ENST00000472650,;AAMP,non_coding_transcript_exon_variant,,ENST00000475678,;AAMP,non_coding_transcript_exon_variant,,ENST00000461911,;AAMP,non_coding_transcript_exon_variant,,ENST00000489767,;AAMP,upstream_gene_variant,,ENST00000465442,;AAMP,upstream_gene_variant,,ENST00000494720,;PNKD,upstream_gene_variant,,ENST00000469689,;TMBIM1,downstream_gene_variant,,ENST00000465082,;	349	97	112	SUCCESS
ASIC4	55515	.	GRCh37	2	220396813	220396813	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	105	0	ENST00000347842.3:c.1199C>T	p.Pro400Leu	p.P400L	ENST00000347842	NM_182847.2	400	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2442.1	1199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCAGGCT	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF13,Gene3D:2qtsA02,Pfam_domain:PF00858	.	.	ENSP00000326627	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000347842	Transcript	.	.	ENSG00000072182	21263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	ASIC4_HUMAN	ASIC4	HGNC	.	.	UPI0000456EFC	SNV	ASIC4,missense_variant,p.Pro400Leu,ENST00000358078,;ASIC4,missense_variant,p.Pro400Leu,ENST00000347842,;ASIC4,non_coding_transcript_exon_variant,,ENST00000473709,;ASIC4,non_coding_transcript_exon_variant,,ENST00000461395,;ASIC4,non_coding_transcript_exon_variant,,ENST00000474489,;	1213	105	88	SUCCESS
USP40	55230	.	GRCh37	2	234418763	234418763	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766484610	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	45	0	ENST00000251722.6:c.2542A>G	p.Met848Val	p.M848V	ENST00000251722		848	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS46547.1	2578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCATTGCAA	NONE	byFrequency	.	hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006	.	.	ENSP00000415434	.	20/31	.	.	.	.	.	.	.	.	rs766484610	20/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.Met848Val,ENST00000251722,;USP40,missense_variant,p.Met24Val,ENST00000409945,;USP40,missense_variant,p.Met848Val,ENST00000427112,;USP40,missense_variant,p.Met860Val,ENST00000450966,;USP40,missense_variant,p.Met24Val,ENST00000430158,;USP40,non_coding_transcript_exon_variant,,ENST00000483216,;	2578	45	68	SUCCESS
PPP1R7	5510	.	GRCh37	2	242106589	242106589	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	62	0	ENST00000234038.6:c.819+733A>G		p.*273*	ENST00000234038	NM_002712.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2546.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATTCAATTTTA	NONE	.	.	.	.	.	ENSP00000234038	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000234038	Transcript	.	.	ENSG00000115685	9295	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PP1R7_HUMAN	PPP1R7	HGNC	.	.	UPI000006E65A	SNV	PPP1R7,3_prime_UTR_variant,,ENST00000406106,;PPP1R7,3_prime_UTR_variant,,ENST00000401987,;PPP1R7,3_prime_UTR_variant,,ENST00000404405,;PPP1R7,intron_variant,,ENST00000234038,;PPP1R7,intron_variant,,ENST00000407025,;PPP1R7,intron_variant,,ENST00000423280,;PPP1R7,intron_variant,,ENST00000450367,;PPP1R7,intron_variant,,ENST00000272983,;PPP1R7,intron_variant,,ENST00000438799,;PPP1R7,downstream_gene_variant,,ENST00000402734,;PPP1R7,upstream_gene_variant,,ENST00000415769,;PPP1R7,downstream_gene_variant,,ENST00000485630,;PPP1R7,intron_variant,,ENST00000479821,;PPP1R7,intron_variant,,ENST00000491715,;	.	62	66	SUCCESS
CXXC11	0	.	GRCh37	2	242814897	242814897	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	88	0	ENST00000343216.3:c.1190T>A	p.Leu397His	p.L397H	ENST00000343216	NM_173821.2	397	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS42843.1	1190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTCGTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000345374	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000343216	Transcript	.	.	ENSG00000188011	26585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.562)	.	tolerated(0.2)	.	CB085_HUMAN	CXXC11	HGNC	.	.	UPI000014050F	SNV	CXXC11,missense_variant,p.Leu397His,ENST00000343216,;CXXC11,3_prime_UTR_variant,,ENST00000419912,;	1218	88	49	SUCCESS
HADHB	3032	.	GRCh37	2	26477337	26477337	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	66	124	0	ENST00000317799.5:c.104C>G	p.Ala35Gly	p.A35G	ENST00000317799	NM_000183.2	35	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS1722.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCCCAG	NONE	.	.	hmmpanther:PTHR18919:SF5,hmmpanther:PTHR18919	.	.	ENSP00000325136	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000317799	Transcript	.	.	ENSG00000138029	4803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.09)	.	ECHB_HUMAN	HADHB	HGNC	C9K0M0_HUMAN,C9JEY0_HUMAN,C9JE81_HUMAN	.	UPI0000129B6F	SNV	HADHB,missense_variant,p.Ala35Gly,ENST00000405867,;HADHB,missense_variant,p.Ala35Gly,ENST00000425035,;HADHB,missense_variant,p.Ala35Gly,ENST00000448743,;HADHB,missense_variant,p.Ala35Gly,ENST00000412805,;HADHB,missense_variant,p.Ala35Gly,ENST00000537713,;HADHB,missense_variant,p.Ala35Gly,ENST00000317799,;HADHB,5_prime_UTR_variant,,ENST00000545822,;HADHB,non_coding_transcript_exon_variant,,ENST00000479347,;	208	124	185	SUCCESS
LTBP1	4052	.	GRCh37	2	33359882	33359882	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	65	127	0	ENST00000404816.2:c.1056C>A	p.Ile352=	p.I352=	ENST00000404816		352	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33177.2	1056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATCAAGGT	NONE	.	.	hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034	.	.	ENSP00000386043	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,synonymous_variant,p.%3D,ENST00000407925,;LTBP1,synonymous_variant,p.%3D,ENST00000354476,;LTBP1,synonymous_variant,p.%3D,ENST00000418533,;LTBP1,synonymous_variant,p.%3D,ENST00000390003,;LTBP1,synonymous_variant,p.%3D,ENST00000404816,;LTBP1,synonymous_variant,p.%3D,ENST00000402934,;LTBP1,synonymous_variant,p.%3D,ENST00000404525,;LTBP1,5_prime_UTR_variant,,ENST00000432635,;	1409	127	230	SUCCESS
SPTBN1	6711	.	GRCh37	2	54858513	54858513	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	71	149	0	ENST00000356805.4:c.3329A>T	p.Glu1110Val	p.E1110V	ENST00000356805	NM_003128.2	1110	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33198.1	3329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGAGATCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Glu1097Val,ENST00000333896,;SPTBN1,missense_variant,p.Glu1110Val,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000389980,;	3610	149	179	SUCCESS
DCUN1D1	54165	.	GRCh37	3	182665421	182665421	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	363	148	357	0	ENST00000292782.4:c.521-1G>T		p.X174_splice	ENST00000292782	NM_020640.2	174		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3240.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATCTGAAA	NONE	.	.	.	.	.	ENSP00000292782	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292782	Transcript	.	.	ENSG00000043093	18184	.	.	HIGH	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCNL1_HUMAN	DCUN1D1	HGNC	C9JVE2_HUMAN,C9JUW4_HUMAN,C9JRU6_HUMAN,C9J8R4_HUMAN,C9J0B2_HUMAN	.	UPI0000073D68	SNV	DCUN1D1,splice_acceptor_variant,,ENST00000292782,;DCUN1D1,splice_acceptor_variant,,ENST00000469954,;DCUN1D1,splice_acceptor_variant,,ENST00000492563,;RP11-531F16.3,downstream_gene_variant,,ENST00000460975,;	.	357	511	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	50	51	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	51	139	SUCCESS
CDCP1	64866	.	GRCh37	3	45132884	45132884	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	79	0	ENST00000296129.1:c.1774A>T	p.Lys592Ter	p.K592*	ENST00000296129	NM_022842.4	592	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2727.1	1774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTAAAGA	NONE	.	.	hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	.	.	ENSP00000296129	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000296129	Transcript	.	.	ENSG00000163814	24357	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDCP1_HUMAN	CDCP1	HGNC	.	.	UPI000013E304	SNV	CDCP1,stop_gained,p.Lys592Ter,ENST00000296129,;	1909	79	70	SUCCESS
CCR2	729230	.	GRCh37	3	46400203	46400203	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	56	0	ENST00000292301.4:c.941+244T>C		p.*314*	ENST00000292301	NM_001123041.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43078.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTGCCCA	NONE	.	.	.	.	.	ENSP00000292301	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292301	Transcript	.	.	ENSG00000121807	1603	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR2_HUMAN	CCR2	HGNC	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN	.	UPI0000043585	SNV	CCR2,3_prime_UTR_variant,,ENST00000445132,;CCR2,intron_variant,,ENST00000400888,;CCR2,intron_variant,,ENST00000292301,;CCR2,downstream_gene_variant,,ENST00000421659,;CCR2,downstream_gene_variant,,ENST00000465202,;	.	56	78	SUCCESS
ARIH2	10425	.	GRCh37	3	49006081	49006081	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs144088007	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	50	0	ENST00000356401.4:c.653A>G	p.Tyr218Cys	p.Y218C	ENST00000356401	NM_006321.2	218	tAt/tGt	0	G:0.0002	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2780.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTATGTGG	NONE	byCluster	.	hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF117,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850,Superfamily_domains:SSF57850	.	G:0	ENSP00000348769	.	7/16	.	.	.	.	.	.	.	.	rs144088007	7/16	PASS	ENST00000356401	Transcript	.	.	ENSG00000177479	690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.18)	.	ARI2_HUMAN	ARIH2	HGNC	Q6IBL8_HUMAN,C9JZ71_HUMAN,C9JCL4_HUMAN,C9JBC5_HUMAN,C9JAU2_HUMAN	.	UPI0000125EDA	SNV	ARIH2,missense_variant,p.Tyr218Cys,ENST00000356401,;ARIH2,missense_variant,p.Tyr218Cys,ENST00000449376,;ARIH2,downstream_gene_variant,,ENST00000430423,;ARIH2,non_coding_transcript_exon_variant,,ENST00000483333,;ARIH2,non_coding_transcript_exon_variant,,ENST00000465217,;ARIH2,non_coding_transcript_exon_variant,,ENST00000474936,;ARIH2,non_coding_transcript_exon_variant,,ENST00000490095,;ARIH2,non_coding_transcript_exon_variant,,ENST00000498314,;ARIH2,intron_variant,,ENST00000495761,;ARIH2,downstream_gene_variant,,ENST00000482427,;ARIH2,downstream_gene_variant,,ENST00000486316,;ARIH2,downstream_gene_variant,,ENST00000484999,;ARIH2,downstream_gene_variant,,ENST00000478224,;ARIH2,downstream_gene_variant,,ENST00000459976,;ARIH2,downstream_gene_variant,,ENST00000472640,;ARIH2,downstream_gene_variant,,ENST00000488963,;ARIH2,downstream_gene_variant,,ENST00000474618,;ARIH2,3_prime_UTR_variant,,ENST00000452385,;ARIH2,non_coding_transcript_exon_variant,,ENST00000482342,;ARIH2,upstream_gene_variant,,ENST00000469038,;	992	50	37	SUCCESS
FLNB	2317	.	GRCh37	3	58067391	58067391	+	synonymous_variant	Silent	SNP	G	G	A	rs1252938015	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	48	67	0	ENST00000295956.4:c.675G>A	p.Val225=	p.V225=	ENST00000295956	NM_001457.3	225	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54599.1	675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTGGACGA	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000420213	.	4/47	.	.	.	.	.	.	.	.	.	4/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,synonymous_variant,p.%3D,ENST00000429972,;FLNB,synonymous_variant,p.%3D,ENST00000295956,;FLNB,synonymous_variant,p.%3D,ENST00000348383,;FLNB,synonymous_variant,p.%3D,ENST00000493452,;FLNB,synonymous_variant,p.%3D,ENST00000358537,;FLNB,synonymous_variant,p.%3D,ENST00000490882,;FLNB,synonymous_variant,p.%3D,ENST00000419752,;FLNB,synonymous_variant,p.%3D,ENST00000357272,;	840	67	115	SUCCESS
BRPF1	7862	.	GRCh37	3	9785454	9785454	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139779477	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	53	134	0	ENST00000457855.1:c.2486C>T	p.Thr829Met	p.T829M	ENST00000457855		829	aCg/aTg	0	T:0.0002	.	.	.	.	T	T/M	protein_coding	YES	CCDS33692.1	2504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACGGGAC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85	.	T:0.0001	ENSP00000373340	.	8/14	.	.	.	.	.	.	.	.	rs139779477	8/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.11)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Thr829Met,ENST00000433861,;BRPF1,missense_variant,p.Thr829Met,ENST00000457855,;BRPF1,missense_variant,p.Thr835Met,ENST00000383829,;BRPF1,missense_variant,p.Thr829Met,ENST00000302054,;BRPF1,missense_variant,p.Thr828Met,ENST00000424362,;BRPF1,non_coding_transcript_exon_variant,,ENST00000469066,;BRPF1,upstream_gene_variant,,ENST00000497565,;	2908	134	166	SUCCESS
PRSS12	8492	.	GRCh37	4	119204214	119204214	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	36	0	ENST00000296498.3:c.2092C>A	p.Leu698Met	p.L698M	ENST00000296498	NM_003619.3	698	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS3709.1	2092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAGAGTAT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF19,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000296498	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000296498	Transcript	1	.	ENSG00000164099	9477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	deleterious(0.02)	.	NETR_HUMAN	PRSS12	HGNC	.	.	UPI000013E34B	SNV	PRSS12,missense_variant,p.Leu698Met,ENST00000296498,;SNHG8,downstream_gene_variant,,ENST00000602414,;SNHG8,downstream_gene_variant,,ENST00000602483,;SNHG8,downstream_gene_variant,,ENST00000602573,;SNHG8,downstream_gene_variant,,ENST00000602520,;SNHG8,downstream_gene_variant,,ENST00000384096,;SNHG8,downstream_gene_variant,,ENST00000602819,;PRSS12,non_coding_transcript_exon_variant,,ENST00000510903,;	2375	36	66	SUCCESS
NPY2R	4887	.	GRCh37	4	156135952	156135952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	35	46	0	ENST00000329476.3:c.861C>A	p.Phe287Leu	p.F287L	ENST00000329476	NM_000910.2	287	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS3791.1	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCCAGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01014,Prints_domain:PR00237	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	tolerated(0.07)	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,missense_variant,p.Phe287Leu,ENST00000506608,;NPY2R,missense_variant,p.Phe287Leu,ENST00000329476,;	1350	46	124	SUCCESS
NPY2R	4887	.	GRCh37	4	156135953	156135953	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	35	46	0	ENST00000329476.3:c.862C>T	p.Gln288Ter	p.Q288*	ENST00000329476	NM_000910.2	288	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3791.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCAGCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01014,Prints_domain:PR00237	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	COSM345596	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,stop_gained,p.Gln288Ter,ENST00000506608,;NPY2R,stop_gained,p.Gln288Ter,ENST00000329476,;	1351	46	124	SUCCESS
STOX2	56977	.	GRCh37	4	184827897	184827897	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	106	0	ENST00000308497.4:c.-47C>T		p.*16*	ENST00000308497	NM_020225.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47167.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCGGCGC	NONE	.	.	.	.	.	ENSP00000311257	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000308497	Transcript	.	.	ENSG00000173320	25450	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STOX2_HUMAN	STOX2	HGNC	D6RDA5_HUMAN	.	UPI00001C1E11	SNV	STOX2,5_prime_UTR_variant,,ENST00000438269,;STOX2,5_prime_UTR_variant,,ENST00000308497,;STOX2,intron_variant,,ENST00000511250,;	1389	106	91	SUCCESS
ATP8A1	10396	.	GRCh37	4	42457611	42457611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	72	162	0	ENST00000381668.5:c.2625G>T	p.Trp875Cys	p.W875C	ENST00000381668	NM_006095.2	875	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS3466.1	2625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAACCAGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473	.	.	ENSP00000371084	.	28/37	.	.	.	.	.	.	.	.	.	28/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.514)	.	deleterious(0)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Trp875Cys,ENST00000381668,;ATP8A1,missense_variant,p.Trp860Cys,ENST00000264449,;ATP8A1,missense_variant,p.Trp107Cys,ENST00000506602,;ATP8A1,3_prime_UTR_variant,,ENST00000514372,;ATP8A1,downstream_gene_variant,,ENST00000515872,;	2857	162	227	SUCCESS
OCIAD1	54940	.	GRCh37	4	48834685	48834685	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	71	0	ENST00000264312.7:c.44C>T	p.Pro15Leu	p.P15L	ENST00000264312	NM_017830.3	15	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3484.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCAAGAC	NONE	.	.	hmmpanther:PTHR13336:SF4,hmmpanther:PTHR13336	.	.	ENSP00000370882	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000381473	Transcript	.	.	ENSG00000109180	16074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	deleterious(0.01)	.	OCAD1_HUMAN	OCIAD1	HGNC	D6RIT9_HUMAN,D6RI08_HUMAN,D6RG39_HUMAN,D6RF07_HUMAN,D6RF01_HUMAN,D6RDK6_HUMAN,D6RDK1_HUMAN,D6RDI5_HUMAN,D6RC55_HUMAN,D6RBC5_HUMAN,D6RA54_HUMAN,D6R918_HUMAN	.	UPI0000073D7F	SNV	OCIAD1,missense_variant,p.Pro15Leu,ENST00000513391,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000508293,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000425583,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000264312,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000508996,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000505922,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000509164,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000509963,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000511102,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000396448,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000511662,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000504654,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000507210,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000512236,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000514981,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000381473,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000509122,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000509664,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000444354,;OCIAD1,5_prime_UTR_variant,,ENST00000510824,;OCIAD1,intron_variant,,ENST00000503016,;OCIAD1,intron_variant,,ENST00000509246,;OCIAD1,intron_variant,,ENST00000506801,;OCIAD1,intron_variant,,ENST00000512981,;OCIAD1,missense_variant,p.Pro15Leu,ENST00000513641,;OCIAD1,non_coding_transcript_exon_variant,,ENST00000507546,;	462	71	70	SUCCESS
LPHN3	0	.	GRCh37	4	62845399	62845399	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763431457	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	56	0	ENST00000514591.1:c.2720G>A	p.Ser907Asn	p.S907N	ENST00000514591		907	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS54768.1	2720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGTGACC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR01444	.	.	ENSP00000422533	.	17/25	.	.	.	.	.	.	.	.	rs763431457	17/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Ser975Asn,ENST00000507625,;LPHN3,missense_variant,p.Ser907Asn,ENST00000508946,;LPHN3,missense_variant,p.Ser907Asn,ENST00000506700,;LPHN3,missense_variant,p.Ser365Asn,ENST00000502815,;LPHN3,missense_variant,p.Ser975Asn,ENST00000509896,;LPHN3,missense_variant,p.Ser975Asn,ENST00000511324,;LPHN3,missense_variant,p.Ser907Asn,ENST00000545650,;LPHN3,missense_variant,p.Ser975Asn,ENST00000506720,;LPHN3,missense_variant,p.Ser907Asn,ENST00000504896,;LPHN3,missense_variant,p.Ser907Asn,ENST00000514591,;LPHN3,missense_variant,p.Ser975Asn,ENST00000508693,;LPHN3,missense_variant,p.Ser975Asn,ENST00000506746,;LPHN3,missense_variant,p.Ser907Asn,ENST00000514996,;LPHN3,missense_variant,p.Ser907Asn,ENST00000512091,;LPHN3,missense_variant,p.Ser907Asn,ENST00000514157,;LPHN3,missense_variant,p.Ser975Asn,ENST00000507164,;	3049	56	110	SUCCESS
STAP1	26228	.	GRCh37	4	68442954	68442954	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	101	173	0	ENST00000265404.2:c.340G>A	p.Gly114Ser	p.G114S	ENST00000265404	NM_012108.2	114	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3515.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGGCTTC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000265404	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000265404	Transcript	.	.	ENSG00000035720	24133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.286)	.	deleterious(0.04)	.	STAP1_HUMAN	STAP1	HGNC	.	.	UPI0000073E6C	SNV	STAP1,missense_variant,p.Gly114Ser,ENST00000396225,;STAP1,missense_variant,p.Gly114Ser,ENST00000265404,;	422	173	306	SUCCESS
GPR78	27201	.	GRCh37	4	8589020	8589023	+	frameshift_variant	Frame_Shift_Del	DEL	CGCG	CGCG	GCA	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	CGCG	CGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	233	57	270	0	ENST00000382487.4:c.1022_1025delinsGCA	p.Pro341ArgfsTer35	p.P341Rfs*35	ENST00000382487	NM_080819.4	341	cCGCGc/cGCAc	0	.	.	.	.	.	GCA	PR/RX	protein_coding	YES	CCDS3403.1	1022-1025	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACCCCGCGCCCAG	CODON|p.R342C|c.1024C>T|3	.	.	hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF5	.	.	ENSP00000371927	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000382487	Transcript	.	.	ENSG00000155269	4528	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPR78_HUMAN	GPR78	HGNC	D6RB95_HUMAN,B2R7M4_HUMAN	.	UPI0000037A5F	substitution	GPR78,frameshift_variant,p.Pro341ArgfsTer35,ENST00000382487,;GPR78,non_coding_transcript_exon_variant,,ENST00000504255,;GPR78,non_coding_transcript_exon_variant,,ENST00000509216,;GPR78,intron_variant,,ENST00000514302,;	1439-1442	270	290	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128864307	128864307	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	159	117	0	ENST00000274487.4:c.1247T>C	p.Leu416Ser	p.L416S	ENST00000274487	NM_133638.3	416	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS4146.1	1247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTAGAGA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000274487	.	6/23	.	.	.	.	.	.	.	.	COSM735769	6/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.01)	.	tolerated(0.58)	1	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Leu416Ser,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,downstream_gene_variant,,ENST00000502709,;ADAMTS19,downstream_gene_variant,,ENST00000505791,;	1392	117	325	SUCCESS
PPP2CA	5515	.	GRCh37	5	133541801	133541801	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	36	84	0	ENST00000481195.1:c.124G>C	p.Glu42Gln	p.E42Q	ENST00000481195	NM_002715.2	42	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS4173.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTCTTTTG	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF216,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300	.	.	ENSP00000418447	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000481195	Transcript	.	.	ENSG00000113575	9299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	deleterious(0)	.	PP2AA_HUMAN	PPP2CA	HGNC	E5RHP4_HUMAN,B3KUN1_HUMAN,B3KQ51_HUMAN	.	UPI0000000C15	SNV	PPP2CA,missense_variant,p.Glu42Gln,ENST00000481195,;CDKL3,missense_variant,p.Glu392Gln,ENST00000609654,;PPP2CA,missense_variant,p.Glu29Gln,ENST00000523082,;CDKL3,3_prime_UTR_variant,,ENST00000609383,;PPP2CA,5_prime_UTR_variant,,ENST00000522385,;CTD-2410N18.5,intron_variant,,ENST00000519718,;PPP2CA,non_coding_transcript_exon_variant,,ENST00000231504,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000518409,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000520515,;PPP2CA,upstream_gene_variant,,ENST00000495833,;	405	84	166	SUCCESS
PSD2	84249	.	GRCh37	5	139189086	139189086	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142380601	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	93	234	0	ENST00000274710.3:c.61G>A	p.Gly21Ser	p.G21S	ENST00000274710	NM_032289.2	21	Ggt/Agt	0	A:0.0043	A:0.003	.	A:0	.	A	G/S	protein_coding	YES	CCDS4216.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGGTCCA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	A:0	A:0	ENSP00000274710	A:0	2/15	.	.	.	.	.	.	.	.	rs142380601	2/15	PASS	ENST00000274710	Transcript	.	A:0.0008	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	A:0	tolerated_low_confidence(1)	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Gly21Ser,ENST00000274710,;	266	234	321	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222990	140222990	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1449552698	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	36	139	0	ENST00000531613.1:c.2084A>G	p.Asp695Gly	p.D695G	ENST00000531613	NM_018911.2	695	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54919.1	2084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGATGTCA	NONE	.	.	hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious_low_confidence(0.01)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Asp695Gly,ENST00000531613,;PCDHA8,missense_variant,p.Asp695Gly,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000378122,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	2084	140	160	SUCCESS
PCDHA13	56136	.	GRCh37	5	140262860	140262860	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	88	142	0	ENST00000289272.2:c.1007T>C	p.Leu336Pro	p.L336P	ENST00000289272	NM_018904.2	336	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4240.1	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCTTTTGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious_low_confidence(0)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Leu336Pro,ENST00000289272,;PCDHA13,missense_variant,p.Leu336Pro,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	1007	143	174	SUCCESS
PCDHB10	56126	.	GRCh37	5	140573599	140573599	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782201450	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	28	128	0	ENST00000239446.4:c.1475del	p.Pro492ArgfsTer50	p.P492Rfs*50	ENST00000239446	NM_018930.3	492	Ccg/cg	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS4252.1	1474	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCTGCCGCCC	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	rs782201450	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	deletion	PCDHB10,frameshift_variant,p.Pro492ArgfsTer50,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	1658	128	193	SUCCESS
SPINK1	6690	.	GRCh37	5	147211169	147211169	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	17	0	ENST00000296695.5:c.-29A>C		p.*10*	ENST00000296695	NM_003122.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4286.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTTGAAAA	NONE	.	.	.	.	.	ENSP00000296695	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000296695	Transcript	1	.	ENSG00000164266	11244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ISK1_HUMAN	SPINK1	HGNC	D6RIU5_HUMAN	.	UPI000012D7EC	SNV	SPINK1,5_prime_UTR_variant,,ENST00000510027,;SPINK1,5_prime_UTR_variant,,ENST00000296695,;SPINK1,upstream_gene_variant,,ENST00000505722,;	181	17	80	SUCCESS
SLC36A3	285641	.	GRCh37	5	150678157	150678157	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778503356	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	57	0	ENST00000335230.3:c.216G>T	p.Leu72Phe	p.L72F	ENST00000335230	NM_181774.3	72	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS47316.1	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACAAGCC	NONE	.	.	Pfam_domain:PF01490,hmmpanther:PTHR22950:SF203,hmmpanther:PTHR22950,Transmembrane_helices:TMhelix	.	.	ENSP00000366942	.	2/11	.	.	.	.	.	.	.	.	rs778503356	2/11	PASS	ENST00000377713	Transcript	.	.	ENSG00000186334	19659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	S36A3_HUMAN	SLC36A3	HGNC	.	.	UPI00005764D3	SNV	SLC36A3,missense_variant,p.Leu72Phe,ENST00000335230,;SLC36A3,missense_variant,p.Leu72Phe,ENST00000377713,;SLC36A3,upstream_gene_variant,,ENST00000423071,;	358	57	74	SUCCESS
SOX30	11063	.	GRCh37	5	157078733	157078733	+	synonymous_variant	Silent	SNP	G	G	A	rs577314769	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	11	55	0	ENST00000265007.6:c.354C>T	p.Gly118=	p.G118=	ENST00000265007	NM_178424.1	118	ggC/ggT	0	.	A:0.0008	.	A:0	.	A	G	protein_coding	YES	CCDS4339.1	354	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGCCGTC	NONE	by1000G	.	hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	A:0	.	ENSP00000265007	A:0	1/5	.	.	.	.	.	.	.	.	rs577314769	1/5	PASS	ENST00000265007	Transcript	.	A:0.0002	ENSG00000039600	30635	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SOX30_HUMAN	SOX30	HGNC	.	.	UPI00001362BA	SNV	SOX30,synonymous_variant,p.%3D,ENST00000311371,;SOX30,synonymous_variant,p.%3D,ENST00000265007,;SOX30,intron_variant,,ENST00000519442,;	696	55	85	SUCCESS
NSD1	64324	.	GRCh37	5	176721059	176721059	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	42	0	ENST00000439151.2:c.6690A>G	p.Pro2230=	p.P2230=	ENST00000439151	NM_022455.4	2230	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4412.1	6690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAGGGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000395929	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,synonymous_variant,p.%3D,ENST00000361032,;NSD1,synonymous_variant,p.%3D,ENST00000354179,;NSD1,synonymous_variant,p.%3D,ENST00000439151,;NSD1,synonymous_variant,p.%3D,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000513736,;	6735	42	73	SUCCESS
CWC27	10283	.	GRCh37	5	64084777	64084777	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	149	119	0	ENST00000381070.3:c.600-1G>A		p.X200_splice	ENST00000381070	NM_005869.2	200		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3982.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAGAAATT	NONE	.	.	.	.	.	ENSP00000370460	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	HIGH	6/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,splice_acceptor_variant,,ENST00000381070,;CWC27,splice_acceptor_variant,,ENST00000508024,;CWC27,splice_acceptor_variant,,ENST00000485990,;	.	119	312	SUCCESS
VCAN	1462	.	GRCh37	5	82837017	82837017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	33	29	0	ENST00000265077.3:c.8195C>A	p.Ala2732Glu	p.A2732E	ENST00000265077	NM_004385.4	2732	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS4060.1	8195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGCAGACC	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.Ala2732Glu,ENST00000265077,;VCAN,missense_variant,p.Ala1745Glu,ENST00000343200,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	8760	29	137	SUCCESS
NKAIN2	154215	.	GRCh37	6	124979581	124979581	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	57	50	0	ENST00000368417.1:c.474+49T>C		p.*158*	ENST00000368417	NM_001040214.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34526.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTATTTC	NONE	.	.	.	.	.	ENSP00000357402	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368417	Transcript	.	.	ENSG00000188580	16443	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKAI2_HUMAN	NKAIN2	HGNC	B3KNZ0_HUMAN,B0AZU5_HUMAN	.	UPI0000458919	SNV	NKAIN2,missense_variant,p.Tyr175His,ENST00000368416,;NKAIN2,intron_variant,,ENST00000368417,;NKAIN2,intron_variant,,ENST00000545433,;NKAIN2,intron_variant,,ENST00000546092,;	.	50	147	SUCCESS
TIAM2	26230	.	GRCh37	6	155450964	155450964	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	56	0	ENST00000318981.5:c.607A>C	p.Thr203Pro	p.T203P	ENST00000318981	NM_012454.3	203	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS34558.1	607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTACCTTA	NONE	.	.	.	.	.	ENSP00000437188	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.623)	.	deleterious_low_confidence(0.01)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Thr203Pro,ENST00000461783,;TIAM2,missense_variant,p.Thr203Pro,ENST00000318981,;TIAM2,missense_variant,p.Thr203Pro,ENST00000528535,;TIAM2,missense_variant,p.Thr203Pro,ENST00000456144,;TIAM2,missense_variant,p.Thr203Pro,ENST00000529824,;TIAM2,missense_variant,p.Thr203Pro,ENST00000360366,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;TIAM2,downstream_gene_variant,,ENST00000535231,;TIAM2,downstream_gene_variant,,ENST00000538270,;TIAM2,downstream_gene_variant,,ENST00000545347,;TIAM2,downstream_gene_variant,,ENST00000535583,;	1880	56	62	SUCCESS
ATXN1	6310	.	GRCh37	6	16327286	16327286	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	47	0	ENST00000244769.4:c.1256G>C	p.Gly419Ala	p.G419A	ENST00000244769	NM_000332.3	419	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS34342.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCCTAAA	NONE	.	.	Pfam_domain:PF12547,hmmpanther:PTHR13392:SF5,hmmpanther:PTHR13392	.	.	ENSP00000244769	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000244769	Transcript	.	.	ENSG00000124788	10548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	tolerated(0.14)	.	ATX1_HUMAN	ATXN1	HGNC	.	.	UPI000013CB8B	SNV	ATXN1,missense_variant,p.Gly419Ala,ENST00000244769,;ATXN1,missense_variant,p.Gly419Ala,ENST00000436367,;	2193	47	50	SUCCESS
GNL1	2794	.	GRCh37	6	30520392	30520392	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	50	0	ENST00000376621.3:c.951G>A	p.Gly317=	p.G317=	ENST00000376621	NM_005275.3	317	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4680.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCCAGC	NONE	.	.	PROSITE_profiles:PS51721,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF24	.	.	ENSP00000365806	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000376621	Transcript	.	.	ENSG00000204590	4413	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNL1_HUMAN	GNL1	HGNC	Q96QB8_HUMAN,Q6P458_HUMAN,B4DNS8_HUMAN,A8MPZ0_HUMAN	.	UPI0000073F2B	SNV	GNL1,synonymous_variant,p.%3D,ENST00000376621,;GNL1,downstream_gene_variant,,ENST00000433809,;PRR3,upstream_gene_variant,,ENST00000376560,;PRR3,upstream_gene_variant,,ENST00000376557,;PRR3,upstream_gene_variant,,ENST00000481741,;PRR3,upstream_gene_variant,,ENST00000498336,;GNL1,non_coding_transcript_exon_variant,,ENST00000487166,;GNL1,upstream_gene_variant,,ENST00000464231,;PRR3,upstream_gene_variant,,ENST00000491173,;GNL1,upstream_gene_variant,,ENST00000462708,;	1922	50	52	SUCCESS
PI16	221476	.	GRCh37	6	36926970	36926970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	121	0	ENST00000373674.3:c.221G>A	p.Cys74Tyr	p.C74Y	ENST00000373674	NM_153370.2	74	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS34440.1	221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTGCGTGT	NONE	.	.	hmmpanther:PTHR10334,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797,Prints_domain:PR00837	.	.	ENSP00000362778	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373674	Transcript	.	.	ENSG00000164530	21245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PI16_HUMAN	PI16	HGNC	B4DXZ3_HUMAN	.	UPI000004C657	SNV	PI16,missense_variant,p.Cys74Tyr,ENST00000373674,;PI16,upstream_gene_variant,,ENST00000491324,;	549	121	118	SUCCESS
TRERF1	55809	.	GRCh37	6	42227293	42227293	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	51	147	0	ENST00000372922.4:c.2053A>G	p.Ser685Gly	p.S685G	ENST00000372922	NM_033502.2	685	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS4867.1	2053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTCTGGT	NONE	.	.	hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious(0)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Ser705Gly,ENST00000541110,;TRERF1,missense_variant,p.Ser602Gly,ENST00000340840,;TRERF1,missense_variant,p.Ser685Gly,ENST00000372922,;TRERF1,missense_variant,p.Ser602Gly,ENST00000372917,;TRERF1,missense_variant,p.Ser602Gly,ENST00000354325,;	2616	147	154	SUCCESS
RNF148	378925	.	GRCh37	7	122342165	122342165	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	21	0	ENST00000434824.1:c.640A>G	p.Thr214Ala	p.T214A	ENST00000434824	NM_198085.1	214	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47692.1	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGTAAGTC	NONE	.	.	hmmpanther:PTHR22765:SF31,hmmpanther:PTHR22765	.	.	ENSP00000388207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434824	Transcript	.	.	ENSG00000235631	22411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.5)	.	RN148_HUMAN	RNF148	HGNC	A4D0X4_HUMAN	.	UPI000006FF1E	SNV	RNF148,missense_variant,p.Thr214Ala,ENST00000434824,;RNF148,intron_variant,,ENST00000447240,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000412584,;CADPS2,intron_variant,,ENST00000313070,;RNF133,upstream_gene_variant,,ENST00000340112,;	857	21	49	SUCCESS
HIPK2	28996	.	GRCh37	7	139316421	139316421	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	43	0	ENST00000406875.3:c.1154G>A	p.Trp385Ter	p.W385*	ENST00000406875	NM_022740.4	385	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	.	1154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCACATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000385571	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,stop_gained,p.Trp385Ter,ENST00000342645,;HIPK2,stop_gained,p.Trp385Ter,ENST00000428878,;HIPK2,stop_gained,p.Trp385Ter,ENST00000406875,;	1249	43	86	SUCCESS
SLC4A2	6522	.	GRCh37	7	150765081	150765081	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	75	0	ENST00000413384.2:c.1087C>A	p.Pro363Thr	p.P363T	ENST00000413384	NM_003040.3	363	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS5917.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCCCCAC	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834,Gene3D:1hynR00,Superfamily_domains:SSF55804	.	.	ENSP00000419412	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000485713	Transcript	.	.	ENSG00000164889	11028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	B3A2_HUMAN	SLC4A2	HGNC	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN	.	UPI000013EFE9	SNV	SLC4A2,missense_variant,p.Pro281Thr,ENST00000310317,;SLC4A2,missense_variant,p.Pro349Thr,ENST00000461735,;SLC4A2,missense_variant,p.Pro363Thr,ENST00000413384,;SLC4A2,missense_variant,p.Pro363Thr,ENST00000485713,;SLC4A2,missense_variant,p.Pro354Thr,ENST00000392826,;SLC4A2,downstream_gene_variant,,ENST00000488420,;SLC4A2,downstream_gene_variant,,ENST00000482950,;SLC4A2,downstream_gene_variant,,ENST00000490898,;SLC4A2,downstream_gene_variant,,ENST00000483786,;SLC4A2,downstream_gene_variant,,ENST00000463414,;SLC4A2,upstream_gene_variant,,ENST00000482697,;SLC4A2,upstream_gene_variant,,ENST00000472204,;SLC4A2,upstream_gene_variant,,ENST00000469355,;SLC4A2,upstream_gene_variant,,ENST00000460010,;SLC4A2,upstream_gene_variant,,ENST00000480107,;SLC4A2,upstream_gene_variant,,ENST00000494298,;SLC4A2,downstream_gene_variant,,ENST00000494125,;SLC4A2,upstream_gene_variant,,ENST00000493040,;	2127	75	62	SUCCESS
ABCA13	154664	.	GRCh37	7	48411826	48411826	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	40	0	ENST00000435803.1:c.10865T>C	p.Met3622Thr	p.M3622T	ENST00000435803	NM_152701.3	3622	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS47584.1	10865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATGGCTG	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Transmembrane_helices:TMhelix	.	.	ENSP00000411096	.	33/62	.	.	.	.	.	.	.	.	.	33/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Met3622Thr,ENST00000435803,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;	10889	40	113	SUCCESS
CCZ1	51622	.	GRCh37	7	5965278	5965278	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	393	191	642	1	ENST00000325974.6:c.1409T>G	p.Leu470Arg	p.L470R	ENST00000325974	NM_015622.5	470	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS34597.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACTTTGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08217,hmmpanther:PTHR13056	.	.	ENSP00000325681	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000325974	Transcript	.	.	ENSG00000122674	21691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CCZ1_HUMAN	CCZ1	HGNC	Q7L8P3_HUMAN,F5H553_HUMAN	.	UPI000006CEFF	SNV	CCZ1,missense_variant,p.Leu327Arg,ENST00000537980,;CCZ1,missense_variant,p.Leu470Arg,ENST00000325974,;RSPH10B,3_prime_UTR_variant,,ENST00000539903,;RSPH10B,downstream_gene_variant,,ENST00000441023,;RSPH10B,downstream_gene_variant,,ENST00000337579,;RSPH10B,downstream_gene_variant,,ENST00000404406,;RSPH10B,downstream_gene_variant,,ENST00000405415,;CCZ1,non_coding_transcript_exon_variant,,ENST00000496860,;RSPH10B,downstream_gene_variant,,ENST00000535104,;CCZ1,non_coding_transcript_exon_variant,,ENST00000474507,;	1475	643	584	SUCCESS
UPK3B	105375355	.	GRCh37	7	76140971	76140971	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	rs776052616	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	112	0	ENST00000257632.5:c.401-3C>A		p.X134_splice	ENST00000257632		134		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5588.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCAGCCT	NONE	.	.	.	.	.	ENSP00000441602	.	.	.	.	.	.	.	.	.	.	rs776052616	.	PASS	ENST00000419923	Transcript	.	.	ENSG00000243566	21444	.	.	LOW	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UPK3B_HUMAN	UPK3B	HGNC	.	.	UPI00001AE7A4	SNV	UPK3B,splice_region_variant,,ENST00000419923,;UPK3B,splice_region_variant,,ENST00000257632,;UPK3B,splice_region_variant,,ENST00000448265,;UPK3B,splice_region_variant,,ENST00000334348,;UPK3B,splice_region_variant,,ENST00000394849,;UPK3B,splice_region_variant,,ENST00000443097,;UPK3B,splice_region_variant,,ENST00000490360,;UPK3B,non_coding_transcript_exon_variant,,ENST00000469114,;	.	112	109	SUCCESS
CACNA2D1	781	.	GRCh37	7	81600088	81600088	+	intron_variant	Intron	SNP	T	T	A	rs375539924	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	28	0	ENST00000356253.5:c.2178-35A>T		p.*726*	ENST00000356253				0	C:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS5598.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATTGAACA	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000349320	.	.	.	.	.	.	.	.	.	.	rs375539924	.	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODIFIER	26/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,5_prime_UTR_variant,,ENST00000535308,;CACNA2D1,intron_variant,,ENST00000356253,;CACNA2D1,intron_variant,,ENST00000443883,;CACNA2D1,intron_variant,,ENST00000356860,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000486539,;	.	28	78	SUCCESS
ODF1	4956	.	GRCh37	8	103572893	103572893	+	synonymous_variant	Silent	SNP	G	G	A	rs773452541	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	251	30	71	0	ENST00000285402.3:c.534G>A	p.Pro178=	p.P178=	ENST00000285402	NM_024410.3	178	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6293.1	534	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGCCCTG	NONE	.	.	PROSITE_profiles:PS01031,hmmpanther:PTHR17125:SF2,hmmpanther:PTHR17125,Gene3D:2.60.40.790,Pfam_domain:PF00011,Superfamily_domains:SSF49764	.	.	ENSP00000285402	.	2/2	.	.	.	.	.	.	.	.	rs773452541,COSM1094425	2/2	PASS	ENST00000285402	Transcript	.	.	ENSG00000155087	8113	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	ODFP1_HUMAN	ODF1	HGNC	.	.	UPI000013DDEA	SNV	ODF1,synonymous_variant,p.%3D,ENST00000285402,;ODF1,intron_variant,,ENST00000518835,;	690	71	282	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110439309	110439309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	254	125	88	0	ENST00000378402.5:c.2924C>A	p.Thr975Lys	p.T975K	ENST00000378402	NM_177531.4	975	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS47911.1	2924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTACACGAG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	.	.	ENSP00000367655	.	25/78	.	.	.	.	.	.	.	.	.	25/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	tolerated(0.19)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Thr975Lys,ENST00000378402,;	3028	88	379	SUCCESS
AARD	441376	.	GRCh37	8	117950586	117950586	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	335	201	121	0	ENST00000378279.3:c.104A>G	p.Asp35Gly	p.D35G	ENST00000378279	NM_001025357.2	35	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS34935.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGACTTCT	NONE	.	.	hmmpanther:PTHR32289:SF2,hmmpanther:PTHR32289	.	.	ENSP00000367528	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000378279	Transcript	.	.	ENSG00000205002	33842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	AARD_HUMAN	AARD	HGNC	.	.	UPI0000419472	SNV	AARD,missense_variant,p.Asp35Gly,ENST00000378279,;AARD,upstream_gene_variant,,ENST00000523536,;	149	121	536	SUCCESS
SLC30A8	169026	.	GRCh37	8	118183271	118183271	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	94	30	1	ENST00000456015.2:c.830-2A>G		p.X277_splice	ENST00000456015	NM_173851.2	277		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6322.1	.	SOMATICSNIPER|VARSCANS	.	TTGTCAGGTGT	NONE	.	.	.	.	.	ENSP00000415011	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	HIGH	6/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,splice_acceptor_variant,,ENST00000427715,;SLC30A8,splice_acceptor_variant,,ENST00000456015,;SLC30A8,splice_acceptor_variant,,ENST00000519688,;SLC30A8,splice_acceptor_variant,,ENST00000521243,;	.	31	277	SUCCESS
GFRA2	2675	.	GRCh37	8	21608422	21608422	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	46	104	0	ENST00000517328.1:c.472A>G	p.Ser158Gly	p.S158G	ENST00000517328		158	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS47816.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCTCTTGG	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF4,PIRSF_domain:PIRSF038071	.	.	ENSP00000428518	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000524240	Transcript	.	.	ENSG00000168546	4244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.57)	.	GFRA2_HUMAN	GFRA2	HGNC	E5RJ44_HUMAN,E5RGR6_HUMAN	.	UPI000000D9B1	SNV	GFRA2,missense_variant,p.Ser158Gly,ENST00000517328,;GFRA2,missense_variant,p.Ser53Gly,ENST00000400782,;GFRA2,missense_variant,p.Ser158Gly,ENST00000524240,;GFRA2,missense_variant,p.Ser158Gly,ENST00000522071,;GFRA2,missense_variant,p.Ser53Gly,ENST00000517892,;GFRA2,missense_variant,p.Ser25Gly,ENST00000518077,;GFRA2,3_prime_UTR_variant,,ENST00000306793,;	1123	104	74	SUCCESS
ADAM28	10863	.	GRCh37	8	24197035	24197035	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs191658345	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	44	60	0	ENST00000265769.4:c.1624G>T	p.Gly542Trp	p.G542W	ENST00000265769	NM_014265.4	542	Ggg/Tgg	0	.	T:0	.	T:0.0014	.	T	G/W	protein_coding	YES	CCDS34865.1	1624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACGGGTAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF08516,SMART_domains:SM00608	T:0	.	ENSP00000265769	T:0	15/23	.	.	.	.	.	.	.	.	rs191658345	15/23	PASS	ENST00000265769	Transcript	.	T:0.0002	ENSG00000042980	206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	T:0	deleterious(0)	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,missense_variant,p.Gly175Trp,ENST00000521629,;ADAM28,missense_variant,p.Gly289Trp,ENST00000397649,;ADAM28,missense_variant,p.Gly542Trp,ENST00000265769,;ADAM28,downstream_gene_variant,,ENST00000437154,;ADAM28,downstream_gene_variant,,ENST00000540823,;ADAM28,upstream_gene_variant,,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;ADAM28,upstream_gene_variant,,ENST00000523236,;ADAM28,upstream_gene_variant,,ENST00000520665,;	1734	60	81	SUCCESS
CSMD1	64478	.	GRCh37	8	2976077	2976077	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	35	119	0	ENST00000537824.1:c.6274C>T	p.Pro2092Ser	p.P2092S	ENST00000537824	NM_033225.5	2092	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS55189.1	6274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGGGGTG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	42/70	.	.	.	.	.	.	.	.	.	42/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.236)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Pro2093Ser,ENST00000400186,;CSMD1,missense_variant,p.Pro2092Ser,ENST00000542608,;CSMD1,missense_variant,p.Pro2093Ser,ENST00000602723,;CSMD1,missense_variant,p.Pro1573Ser,ENST00000335551,;CSMD1,missense_variant,p.Pro2092Ser,ENST00000537824,;CSMD1,missense_variant,p.Pro2093Ser,ENST00000602557,;CSMD1,missense_variant,p.Pro2093Ser,ENST00000520002,;	6274	119	71	SUCCESS
DUSP26	78986	.	GRCh37	8	33449660	33449660	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	109	0	ENST00000256261.4:c.507G>A	p.Leu169=	p.L169=	ENST00000256261	NM_024025.1	169	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6092.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTACAGCAT	NONE	.	.	Superfamily_domains:SSF52799,SMART_domains:SM00195,Gene3D:3.90.190.10,Pfam_domain:PF00782,hmmpanther:PTHR10159:SF112,hmmpanther:PTHR10159,PROSITE_profiles:PS50056,PROSITE_profiles:PS50054	.	.	ENSP00000256261	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000256261	Transcript	.	.	ENSG00000133878	28161	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS26_HUMAN	DUSP26	HGNC	E5RHD0_HUMAN	.	UPI000003E899	SNV	DUSP26,synonymous_variant,p.%3D,ENST00000523956,;DUSP26,synonymous_variant,p.%3D,ENST00000256261,;DUSP26,downstream_gene_variant,,ENST00000522982,;	1025	109	69	SUCCESS
PREX2	80243	.	GRCh37	8	68968192	68968192	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	121	41	1	ENST00000288368.4:c.1221T>C	p.Pro407=	p.P407=	ENST00000288368	NM_024870.2	407	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6201.1	1221	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTCCCTAAATG	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785	.	.	ENSP00000288368	.	10/40	.	.	.	.	.	.	.	.	.	10/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	1498	42	355	SUCCESS
PREX2	80243	.	GRCh37	8	69031729	69031729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	79	39	0	ENST00000288368.4:c.3484C>A	p.Leu1162Ile	p.L1162I	ENST00000288368	NM_024870.2	1162	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS6201.1	3484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCTTGAG	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	28/40	.	.	.	.	.	.	.	.	.	28/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Leu1162Ile,ENST00000288368,;	3761	39	199	SUCCESS
POP1	10940	.	GRCh37	8	99170330	99170330	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	35	0	ENST00000349693.3:c.2906A>T	p.Gln969Leu	p.Q969L	ENST00000349693	NM_015029.2	969	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6277.1	2906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCAGGGAG	NONE	.	.	hmmpanther:PTHR22731:SF3,hmmpanther:PTHR22731	.	.	ENSP00000385787	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000401707	Transcript	1	.	ENSG00000104356	30129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0)	.	POP1_HUMAN	POP1	HGNC	E5RK39_HUMAN	.	UPI0000131F33	SNV	POP1,missense_variant,p.Gln969Leu,ENST00000401707,;POP1,missense_variant,p.Gln969Leu,ENST00000349693,;POP1,downstream_gene_variant,,ENST00000517435,;	2987	35	111	SUCCESS
NIPAL2	79815	.	GRCh37	8	99224705	99224705	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	18	18	0	ENST00000341166.3:c.583A>G	p.Ile195Val	p.I195V	ENST00000341166	NM_024759.1	195	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6278.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATGCAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF16,Pfam_domain:PF05653	.	.	ENSP00000339256	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000341166	Transcript	.	.	ENSG00000104361	25854	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.039)	.	tolerated(0.33)	.	NPAL2_HUMAN	NIPAL2	HGNC	.	.	UPI000007089C	SNV	NIPAL2,missense_variant,p.Ile195Val,ENST00000430223,;NIPAL2,missense_variant,p.Ile195Val,ENST00000341166,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000520545,;NIPAL2,downstream_gene_variant,,ENST00000520735,;NIPAL2,downstream_gene_variant,,ENST00000522188,;	839	18	168	SUCCESS
ERP44	23071	.	GRCh37	9	102782996	102782996	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	31	0	ENST00000262455.6:c.489C>A	p.Ile163=	p.I163=	ENST00000262455	NM_015051.1	163	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS35082.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGATATT	NONE	.	.	hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF49,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000262455	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000262455	Transcript	.	.	ENSG00000023318	18311	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERP44_HUMAN	ERP44	HGNC	.	.	UPI0000072130	SNV	ERP44,synonymous_variant,p.%3D,ENST00000262455,;	689	31	71	SUCCESS
ENG	2022	.	GRCh37	9	130588910	130588910	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771347954	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	94	0	ENST00000373203.4:c.402C>A	p.Asn134Lys	p.N134K	ENST00000373203	NM_000118.3	134	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS48029.1	402	MUTECT|MUSE	.	GTGGTGTTGAC	NONE	.	.	hmmpanther:PTHR14002:SF1,hmmpanther:PTHR14002	.	.	ENSP00000362299	.	4/15	.	.	.	.	.	.	.	.	rs771347954	4/15	PASS	ENST00000373203	Transcript	.	.	ENSG00000106991	3349	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.77)	.	deleterious(0.04)	.	EGLN_HUMAN	ENG	HGNC	Q71V36_HUMAN,F5GX88_HUMAN	.	UPI0000129E00	SNV	ENG,missense_variant,p.Asn134Lys,ENST00000344849,;ENG,missense_variant,p.Asn134Lys,ENST00000373203,;RP11-228B15.4,downstream_gene_variant,,ENST00000439298,;ENG,non_coding_transcript_exon_variant,,ENST00000462196,;ENG,upstream_gene_variant,,ENST00000486329,;ENG,upstream_gene_variant,,ENST00000480266,;	803	94	78	SUCCESS
NUP214	8021	.	GRCh37	9	134073496	134073496	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	97	0	ENST00000359428.5:c.4615A>T	p.Lys1539Ter	p.K1539*	ENST00000359428	NM_005085.3	1539	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS6940.1	4615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAAAGAA	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,stop_gained,p.Lys1540Ter,ENST00000451030,;NUP214,stop_gained,p.Lys1539Ter,ENST00000359428,;NUP214,stop_gained,p.Lys365Ter,ENST00000483497,;NUP214,stop_gained,p.Lys316Ter,ENST00000531600,;NUP214,stop_gained,p.Lys1529Ter,ENST00000411637,;RP11-544A12.8,upstream_gene_variant,,ENST00000502188,;NUP214,non_coding_transcript_exon_variant,,ENST00000529286,;NUP214,downstream_gene_variant,,ENST00000465486,;NUP214,downstream_gene_variant,,ENST00000470765,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,downstream_gene_variant,,ENST00000528114,;NUP214,stop_gained,p.Lys392Ter,ENST00000453861,;NUP214,downstream_gene_variant,,ENST00000525384,;NUP214,downstream_gene_variant,,ENST00000525980,;NUP214,downstream_gene_variant,,ENST00000524578,;	4759	97	107	SUCCESS
PNPLA7	375775	.	GRCh37	9	140361782	140361782	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	63	0	ENST00000277531.4:c.2951A>G	p.Lys984Arg	p.K984R	ENST00000277531	NM_152286.3	984	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS48070.1	3026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCTTGGCC	NONE	.	.	Superfamily_domains:SSF52151,Pfam_domain:PF01734,Gene3D:3.40.1090.10,hmmpanther:PTHR14226:SF23,hmmpanther:PTHR14226	.	.	ENSP00000384610	.	26/35	.	.	.	.	.	.	.	.	.	26/35	PASS	ENST00000406427	Transcript	.	.	ENSG00000130653	24768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(1)	.	PLPL7_HUMAN	PNPLA7	HGNC	Q5T362_HUMAN	.	UPI0000E0C27D	SNV	PNPLA7,missense_variant,p.Lys984Arg,ENST00000277531,;PNPLA7,missense_variant,p.Lys975Arg,ENST00000434090,;PNPLA7,missense_variant,p.Lys1009Arg,ENST00000406427,;PNPLA7,missense_variant,p.Lys590Arg,ENST00000371457,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000469998,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000492278,;PNPLA7,upstream_gene_variant,,ENST00000487228,;	3363	63	74	SUCCESS
PIGO	84720	.	GRCh37	9	35092036	35092036	+	synonymous_variant	Silent	SNP	G	G	A	rs1348048933	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	85	0	ENST00000378617.3:c.1848C>T	p.His616=	p.H616=	ENST00000378617	NM_032634.3	616	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS6575.1	1848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTGTGCCG	NONE	.	.	hmmpanther:PTHR23071	.	.	ENSP00000367880	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000378617	Transcript	.	.	ENSG00000165282	23215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGO_HUMAN	PIGO	HGNC	.	.	UPI0000048EF6	SNV	PIGO,synonymous_variant,p.%3D,ENST00000341666,;PIGO,synonymous_variant,p.%3D,ENST00000378617,;PIGO,intron_variant,,ENST00000361778,;PIGO,intron_variant,,ENST00000298004,;RP11-182N22.8,upstream_gene_variant,,ENST00000431804,;PIGO,downstream_gene_variant,,ENST00000492770,;PIGO,upstream_gene_variant,,ENST00000491687,;PIGO,downstream_gene_variant,,ENST00000472208,;PIGO,non_coding_transcript_exon_variant,,ENST00000465745,;PIGO,non_coding_transcript_exon_variant,,ENST00000474436,;	2243	85	102	SUCCESS
ALDH1B1	219	.	GRCh37	9	38397141	38397141	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs750694017	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	78	0	ENST00000377698.3:c.1396G>C	p.Gly466Arg	p.G466R	ENST00000377698	NM_000692.4	466	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS6615.1	1396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGGGACC	NONE	byFrequency	.	Superfamily_domains:SSF53720,Pfam_domain:PF00171,Gene3D:3.40.309.10,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF123	.	.	ENSP00000366927	.	2/2	.	.	.	.	.	.	.	.	rs750694017,COSM3907437	2/2	PASS	ENST00000377698	Transcript	.	.	ENSG00000137124	407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	AL1B1_HUMAN	ALDH1B1	HGNC	B4DLJ0_HUMAN	.	UPI0000073000	SNV	ALDH1B1,missense_variant,p.Gly466Arg,ENST00000377698,;	1549	78	99	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43818103	43818103	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs950353225	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	154	308	0	ENST00000377561.2:n.1136T>A		p.*379*	ENST00000377561		330		0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS55312.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATGGGTG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000366787	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.1)	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,missense_variant,p.His330Gln,ENST00000377564,;CNTNAP3B,missense_variant,p.His330Gln,ENST00000276974,;CNTNAP3B,missense_variant,p.His330Gln,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;	1383	308	384	SUCCESS
WNK2	65268	.	GRCh37	9	96018645	96018645	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751816455	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	72	0	ENST00000297954.4:c.2099C>A	p.Pro700Gln	p.P700Q	ENST00000297954	NM_001282394.1	700	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	.	2099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCGGATC	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	9/30	.	.	.	.	.	.	.	.	rs751816455	9/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Pro312Gln,ENST00000427277,;WNK2,missense_variant,p.Pro312Gln,ENST00000349097,;WNK2,missense_variant,p.Pro696Gln,ENST00000432730,;WNK2,missense_variant,p.Pro304Gln,ENST00000411624,;WNK2,missense_variant,p.Pro700Gln,ENST00000297954,;WNK2,missense_variant,p.Pro700Gln,ENST00000395477,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,intron_variant,,ENST00000395475,;WNK2,intron_variant,,ENST00000448039,;WNK2,upstream_gene_variant,,ENST00000464625,;	2099	72	62	SUCCESS
WWC3	55841	.	GRCh37	X	10096096	10096096	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	95	139	0	ENST00000380861.4:c.2175G>A	p.Val725=	p.V725=	ENST00000380861	NM_015691.3	725	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14136.1	2175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGCAGGT	NONE	.	.	hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25,Gene3D:2.60.40.150	.	.	ENSP00000370242	.	16/23	.	.	.	.	.	.	.	.	COSM1111965	16/23	PASS	ENST00000380861	Transcript	.	.	ENSG00000047644	29237	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	WWC3_HUMAN	WWC3	HGNC	T2C6S4_HUMAN	.	UPI0000225CDE	SNV	WWC3,synonymous_variant,p.%3D,ENST00000380861,;WWC3,synonymous_variant,p.%3D,ENST00000454666,;	2566	139	135	SUCCESS
GPR112	0	.	GRCh37	X	135427542	135427542	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767760760	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	50	32	0	ENST00000370652.1:c.1677C>A	p.Phe559Leu	p.F559L	ENST00000370652		559	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS35409.1	1677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCTTAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	rs767760760,COSM3558217	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.15)	0,1	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Phe496Leu,ENST00000287534,;GPR112,missense_variant,p.Phe559Leu,ENST00000370652,;GPR112,missense_variant,p.Phe559Leu,ENST00000394143,;GPR112,missense_variant,p.Phe354Leu,ENST00000394141,;GPR112,missense_variant,p.Phe354Leu,ENST00000412101,;	1968	32	65	SUCCESS
GABRE	2564	.	GRCh37	X	151123897	151123897	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	67	0	ENST00000370328.3:c.1080G>A	p.Val360=	p.V360=	ENST00000370328	NM_004961.3	360	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14703.1	1080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCACAGC	NONE	.	.	Prints_domain:PR00253,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF397,Transmembrane_helices:TMhelix	.	.	ENSP00000359353	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000370328	Transcript	.	.	ENSG00000102287	4085	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRE_HUMAN	GABRE	HGNC	.	.	UPI00000307E6	SNV	GABRE,synonymous_variant,p.%3D,ENST00000370328,;GABRE,synonymous_variant,p.%3D,ENST00000370325,;GABRE,downstream_gene_variant,,ENST00000393914,;AF274855.1,downstream_gene_variant,,ENST00000582865,;MIR452,downstream_gene_variant,,ENST00000385020,;MIR224,downstream_gene_variant,,ENST00000384889,;GABRE,non_coding_transcript_exon_variant,,ENST00000462018,;GABRE,non_coding_transcript_exon_variant,,ENST00000483564,;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,;GABRE,non_coding_transcript_exon_variant,,ENST00000489333,;GABRE,intron_variant,,ENST00000495862,;GABRE,downstream_gene_variant,,ENST00000441219,;GABRE,downstream_gene_variant,,ENST00000476016,;	1134	67	25	SUCCESS
IL9R	3581	.	GRCh37	X	155239561	155239561	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	26	132	0	ENST00000244174.5:c.1053C>T	p.Cys351=	p.C351=	ENST00000244174	NM_002186.2	351	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS14771.4	1053	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCGTCCA	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,synonymous_variant,p.%3D,ENST00000244174,;IL9R,synonymous_variant,p.%3D,ENST00000424344,;IL9R,3_prime_UTR_variant,,ENST00000369423,;IL9R,3_prime_UTR_variant,,ENST00000540897,;WASIR1,downstream_gene_variant,,ENST00000399966,;IL9R,downstream_gene_variant,,ENST00000494962,;AJ271736.10,intron_variant,,ENST00000483543,;	1232	132	158	SUCCESS
PCDH11X	27328	.	GRCh37	X	91133725	91133725	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	12	195	0	ENST00000373094.1:c.2486T>C	p.Phe829Ser	p.F829S	ENST00000373094	NM_032968.3	829	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS14461.1	2486	MUTECT|MUSE	.	TATTTTCATCA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.038)	.	deleterious(0.04)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Phe829Ser,ENST00000373088,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000361724,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000395337,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000298274,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000504220,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000406881,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000373094,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000373097,;PCDH11X,missense_variant,p.Phe829Ser,ENST00000361655,;	3331	195	272	SUCCESS
HSPA12A	259217	.	GRCh37	10	118434447	118434447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs575047261	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	118	1	ENST00000369209.3:c.1873C>T	p.Arg625Cys	p.R625C	ENST00000369209	NM_025015.2	625	Cgc/Tgc	0	.	A:0.0008	.	A:0	.	A	R/C	protein_coding	YES	CCDS41569.1	1873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGGAGCG	NONE	by1000G	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46	A:0	.	ENSP00000358211	A:0	12/12	.	.	.	.	.	.	.	.	rs575047261,COSM2054815	12/12	PASS	ENST00000369209	Transcript	.	A:0.0002	ENSG00000165868	19022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	A:0	tolerated(0.27)	0,1	HS12A_HUMAN	HSPA12A	HGNC	.	.	UPI00001B3DE3	SNV	HSPA12A,missense_variant,p.Arg625Cys,ENST00000369209,;C10orf82,upstream_gene_variant,,ENST00000369210,;C10orf82,upstream_gene_variant,,ENST00000588184,;RP11-498B4.5,downstream_gene_variant,,ENST00000433600,;C10orf82,upstream_gene_variant,,ENST00000588224,;C10orf82,upstream_gene_variant,,ENST00000467153,;	1978	119	78	SUCCESS
ANKRD26	22852	.	GRCh37	10	27313397	27313397	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	26	152	0	ENST00000376087.4:c.4064A>C	p.Glu1355Ala	p.E1355A	ENST00000376087	NM_014915.2	1355	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS41499.1	4064	RADIA|MUTECT|MUSE|VARSCANS	.	CTAATTCAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57997,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	28/34	.	.	.	.	.	.	.	.	.	28/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.26)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Glu1355Ala,ENST00000376087,;ANKRD26,missense_variant,p.Glu912Ala,ENST00000376070,;ANKRD26,missense_variant,p.Glu1371Ala,ENST00000436985,;	4230	152	222	SUCCESS
EED	8726	.	GRCh37	11	85977167	85977167	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	18	97	0	ENST00000263360.6:c.769G>A	p.Asp257Asn	p.D257N	ENST00000263360	NM_003797.3	257	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8273.1	769	RADIA|MUTECT|MUSE|VARSCANS	.	GTATGGATCAT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR10253,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000263360	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000263360	Transcript	.	.	ENSG00000074266	3188	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EED_HUMAN	EED	HGNC	E9PMU3_HUMAN	.	UPI00000E88CF	SNV	EED,missense_variant,p.Asp257Asn,ENST00000263360,;EED,missense_variant,p.Asp257Asn,ENST00000327320,;EED,missense_variant,p.Asp257Asn,ENST00000351625,;EED,intron_variant,,ENST00000534595,;EED,intron_variant,,ENST00000528180,;EED,non_coding_transcript_exon_variant,,ENST00000534564,;EED,non_coding_transcript_exon_variant,,ENST00000533228,;EED,non_coding_transcript_exon_variant,,ENST00000525244,;EED,upstream_gene_variant,,ENST00000524673,;	1455	97	125	SUCCESS
SBF2	81846	.	GRCh37	11	9983565	9983565	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs185968327	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	56	0	ENST00000256190.8:c.1799G>A	p.Arg600Gln	p.R600Q	ENST00000256190	NM_030962.3	600	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS31427.1	1799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCGGTTT	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF12335,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF4	T:0.002	.	ENSP00000256190	T:0	16/40	.	.	.	.	.	.	.	.	rs185968327	16/40	PASS	ENST00000256190	Transcript	.	T:0.0004	ENSG00000133812	2135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	T:0	deleterious(0)	.	MTMRD_HUMAN	SBF2	HGNC	H0YDZ1_HUMAN	.	UPI00000622D5	SNV	SBF2,missense_variant,p.Arg600Gln,ENST00000256190,;SBF2,missense_variant,p.Arg207Gln,ENST00000420722,;SBF2,non_coding_transcript_exon_variant,,ENST00000526353,;SBF2,non_coding_transcript_exon_variant,,ENST00000533770,;RP11-1H15.1,upstream_gene_variant,,ENST00000533128,;	1937	56	79	SUCCESS
PARPBP	55010	.	GRCh37	12	102569312	102569312	+	synonymous_variant	Silent	SNP	C	C	T	rs1186321456	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	48	97	0	ENST00000327680.2:c.630C>T	p.Gly210=	p.G210=	ENST00000327680	NM_017915.3	210	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9090.2	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGCCAAAA	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR32121	.	.	ENSP00000351153	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000358383	Transcript	.	.	ENSG00000185480	26074	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARI_HUMAN	PARPBP	HGNC	.	.	UPI000004A06B	SNV	PARPBP,synonymous_variant,p.%3D,ENST00000358383,;PARPBP,synonymous_variant,p.%3D,ENST00000541394,;PARPBP,synonymous_variant,p.%3D,ENST00000327680,;PARPBP,synonymous_variant,p.%3D,ENST00000392911,;PARPBP,intron_variant,,ENST00000543784,;PARPBP,intron_variant,,ENST00000378128,;PARPBP,intron_variant,,ENST00000417507,;PARPBP,intron_variant,,ENST00000412715,;PARPBP,intron_variant,,ENST00000535811,;PARPBP,3_prime_UTR_variant,,ENST00000457614,;	918	97	153	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19467760	19467760	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	47	0	ENST00000299275.6:c.1846-5736G>T		p.*616*	ENST00000299275	NM_019012.5	684		0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS58213.1	2050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGAACCT	NONE	.	.	hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752	.	.	ENSP00000404296	.	16/32	.	.	.	.	.	.	.	.	.	16/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,stop_gained,p.Glu512Ter,ENST00000424268,;PLEKHA5,stop_gained,p.Glu512Ter,ENST00000543806,;PLEKHA5,stop_gained,p.Glu684Ter,ENST00000429027,;PLEKHA5,intron_variant,,ENST00000317589,;PLEKHA5,intron_variant,,ENST00000538714,;PLEKHA5,intron_variant,,ENST00000539256,;PLEKHA5,intron_variant,,ENST00000299275,;PLEKHA5,intron_variant,,ENST00000536974,;PLEKHA5,intron_variant,,ENST00000355397,;PLEKHA5,intron_variant,,ENST00000359180,;PLEKHA5,3_prime_UTR_variant,,ENST00000538677,;PLEKHA5,upstream_gene_variant,,ENST00000538068,;	2082	47	97	SUCCESS
KANSL2	54934	.	GRCh37	12	49075410	49075430	+	splice_acceptor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant	Splice_Site	DEL	GTTCATAACCAAAACCTGCGG	GTTCATAACCAAAACCTGCGG	-	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	GTTCATAACCAAAACCTGCGG	GTTCATAACCAAAACCTGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	76	0	ENST00000420613.2:c.-9-6_6del		p.X3_splice	ENST00000420613	NM_017822.3	3		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44869.1	?-6	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCCTGTTCATAACCAAAACCTGCGGGGTCA	NONE	.	.	.	.	.	ENSP00000415436	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000420613	Transcript	.	.	ENSG00000139620	26024	.	.	HIGH	1/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KANL2_HUMAN	KANSL2	HGNC	F8VRX7_HUMAN,F8VP38_HUMAN	.	UPI00001FC0EA	deletion	KANSL2,splice_acceptor_variant,,ENST00000357861,;KANSL2,splice_acceptor_variant,,ENST00000420613,;KANSL2,splice_acceptor_variant,,ENST00000550870,;KANSL2,splice_acceptor_variant,,ENST00000550931,;KANSL2,splice_acceptor_variant,,ENST00000553086,;KANSL2,splice_acceptor_variant,,ENST00000548304,;KANSL2,inframe_deletion,p.Pro179_Asn185del,ENST00000550347,;KANSL2,splice_acceptor_variant,,ENST00000546701,;KANSL2,splice_acceptor_variant,,ENST00000548254,;KANSL2,upstream_gene_variant,,ENST00000547536,;KANSL2,upstream_gene_variant,,ENST00000549574,;KANSL2,upstream_gene_variant,,ENST00000548147,;KANSL2,upstream_gene_variant,,ENST00000547582,;	?-54	76	77	SUCCESS
BCDIN3D	144233	.	GRCh37	12	50236870	50236870	+	start_lost	Translation_Start_Site	SNP	T	T	G	.	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	133	0	ENST00000333924.4:c.1A>C	p.Met1?	p.M1?	ENST00000333924	NM_181708.2	1	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS8790.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCATTAGCC	NONE	.	.	.	.	.	ENSP00000335201	.	1/2	.	.	.	.	.	.	.	.	COSM468480	1/2	PASS	ENST00000333924	Transcript	.	.	ENSG00000186666	27050	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.008)	.	deleterious_low_confidence(0)	1	BN3D2_HUMAN	BCDIN3D	HGNC	.	.	UPI0000160802	SNV	BCDIN3D,start_lost,p.Met1?,ENST00000333924,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;	43	133	120	SUCCESS
COL4A1	1282	.	GRCh37	13	110835413	110835413	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755517991	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	82	0	ENST00000375820.4:c.2022G>C	p.Arg674Ser	p.R674S	ENST00000375820	NM_001845.4	674	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS9511.1	2022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCTTCC	NONE	byFrequency	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391	.	.	ENSP00000364979	.	28/52	.	.	.	.	.	.	.	.	rs755517991	28/52	PASS	ENST00000375820	Transcript	.	.	ENSG00000187498	2202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	SNV	COL4A1,missense_variant,p.Arg674Ser,ENST00000375820,;	2144	82	65	SUCCESS
NBEA	26960	.	GRCh37	13	35883674	35883674	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	37	120	0	ENST00000400445.3:c.5848A>T	p.Asn1950Tyr	p.N1950Y	ENST00000400445	NM_015678.4	1950	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS45026.1	5848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAAACTCT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	36/58	.	.	.	.	.	.	.	.	.	36/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Asn1950Tyr,ENST00000400445,;NBEA,missense_variant,p.Asn1950Tyr,ENST00000540320,;NBEA,missense_variant,p.Asn1950Tyr,ENST00000310336,;NBEA,missense_variant,p.Asn1947Tyr,ENST00000379939,;	6382	120	162	SUCCESS
TRIM13	10206	.	GRCh37	13	50586334	50586335	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	17	45	0	ENST00000378182.3:c.259dup	p.Ile87AsnfsTer23	p.I87Nfs*23	ENST00000378182	NM_213590.1	86	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS41888.1	267-268	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCAAGATCTC	NONE	.	.	hmmpanther:PTHR24103:SF252,hmmpanther:PTHR24103	.	.	ENSP00000348299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	insertion	TRIM13,frameshift_variant,p.Ile87AsnfsTer23,ENST00000378183,;TRIM13,frameshift_variant,p.Ile87AsnfsTer23,ENST00000420995,;TRIM13,frameshift_variant,p.Ile90AsnfsTer23,ENST00000356017,;TRIM13,frameshift_variant,p.Ile87AsnfsTer23,ENST00000378182,;TRIM13,frameshift_variant,p.Ile87AsnfsTer23,ENST00000457662,;TRIM13,frameshift_variant,p.Ile87AsnfsTer23,ENST00000442421,;TRIM13,frameshift_variant,p.Ile90AsnfsTer23,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	655-656	45	98	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102472421	102472421	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	58	0	ENST00000360184.4:c.5630A>G	p.Asp1877Gly	p.D1877G	ENST00000360184	NM_001376.4	1877	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS9966.1	5630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGACAAAC	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12774	.	.	ENSP00000348965	.	27/78	.	.	.	.	.	.	.	.	.	27/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Asp1877Gly,ENST00000360184,;	5794	58	40	SUCCESS
GMPR2	51292	.	GRCh37	14	24707789	24707794	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	TTTAAG	TTTAAG	-	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	TTTAAG	TTTAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	103	42	92	0	ENST00000355299.4:c.858-6_858-1del		p.X286_splice	ENST00000355299	NM_001002000.1	286		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45087.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTACTTTAAGAGCCT	NONE	.	.	.	.	.	ENSP00000392859	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420554	Transcript	.	.	ENSG00000100938	4377	.	.	HIGH	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GMPR2_HUMAN	GMPR2	HGNC	Q86SZ5_HUMAN,H0YNS9_HUMAN,H0YL68_HUMAN	.	UPI0000374739	deletion	GMPR2,splice_acceptor_variant,,ENST00000559479,;GMPR2,splice_acceptor_variant,,ENST00000559943,;GMPR2,splice_acceptor_variant,,ENST00000399440,;GMPR2,splice_acceptor_variant,,ENST00000559836,;GMPR2,splice_acceptor_variant,,ENST00000559910,;GMPR2,splice_acceptor_variant,,ENST00000558748,;GMPR2,splice_acceptor_variant,,ENST00000355299,;GMPR2,splice_acceptor_variant,,ENST00000420554,;GMPR2,splice_acceptor_variant,,ENST00000559104,;GMPR2,splice_acceptor_variant,,ENST00000456667,;GMPR2,inframe_deletion,p.Leu346_Arg347del,ENST00000348719,;GMPR2,inframe_deletion,p.Leu364_Arg365del,ENST00000557854,;GMPR2,intron_variant,,ENST00000558483,;GMPR2,intron_variant,,ENST00000558932,;GMPR2,downstream_gene_variant,,ENST00000560139,;GMPR2,downstream_gene_variant,,ENST00000559409,;TINF2,downstream_gene_variant,,ENST00000267415,;GMPR2,downstream_gene_variant,,ENST00000558279,;TINF2,downstream_gene_variant,,ENST00000538777,;GMPR2,upstream_gene_variant,,ENST00000558788,;TINF2,downstream_gene_variant,,ENST00000557921,;TINF2,downstream_gene_variant,,ENST00000399423,;TINF2,downstream_gene_variant,,ENST00000558566,;TINF2,downstream_gene_variant,,ENST00000559969,;TINF2,downstream_gene_variant,,ENST00000540705,;TINF2,downstream_gene_variant,,ENST00000560019,;GMPR2,downstream_gene_variant,,ENST00000561035,;GMPR2,downstream_gene_variant,,ENST00000558865,;TINF2,downstream_gene_variant,,ENST00000559019,;TINF2,downstream_gene_variant,,ENST00000558476,;TINF2,downstream_gene_variant,,ENST00000558510,;GMPR2,downstream_gene_variant,,ENST00000558701,;GMPR2,downstream_gene_variant,,ENST00000560517,;GMPR2,splice_acceptor_variant,,ENST00000558007,;GMPR2,splice_acceptor_variant,,ENST00000559287,;GMPR2,3_prime_UTR_variant,,ENST00000561038,;TINF2,downstream_gene_variant,,ENST00000559549,;TINF2,downstream_gene_variant,,ENST00000557830,;GMPR2,downstream_gene_variant,,ENST00000559102,;GMPR2,downstream_gene_variant,,ENST00000559606,;TINF2,downstream_gene_variant,,ENST00000559147,;TINF2,downstream_gene_variant,,ENST00000557915,;TINF2,downstream_gene_variant,,ENST00000558703,;GMPR2,downstream_gene_variant,,ENST00000558760,;GMPR2,downstream_gene_variant,,ENST00000561130,;GMPR2,downstream_gene_variant,,ENST00000559801,;	.	92	145	SUCCESS
ATG14	22863	.	GRCh37	14	55878482	55878483	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	91	43	191	0	ENST00000247178.5:c.58dup	p.Arg20ProfsTer67	p.R20Pfs*67	ENST00000247178	NM_014924.4	20	cgg/cCgg	0	.	.	.	.	.	G	R/PX	protein_coding	YES	CCDS32087.1	58-59	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGCCGGGGC	NONE	.	.	hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0	.	.	ENSP00000247178	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000247178	Transcript	.	.	ENSG00000126775	19962	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAKOR_HUMAN	ATG14	HGNC	.	.	UPI00001FD5B2	insertion	ATG14,frameshift_variant,p.Arg20ProfsTer67,ENST00000247178,;TBPL2,downstream_gene_variant,,ENST00000247219,;RPL21P6,downstream_gene_variant,,ENST00000479171,;	94-95	191	134	SUCCESS
SLC38A6	145389	.	GRCh37	14	61550366	61550378	+	frameshift_variant	Frame_Shift_Del	DEL	GGAGAACCAAACG	GGAGAACCAAACG	-	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	GGAGAACCAAACG	GGAGAACCAAACG	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	37	0	ENST00000354886.2:c.1502_1514del	p.Arg501MetfsTer5	p.R501Mfs*5	ENST00000354886	NM_001172702.1	501	aGGAGAACCAAACGt/at	0	.	.	.	.	.	-	RRTKR/X	protein_coding	YES	CCDS53900.1	1502-1514	INDELOCATOR*|PINDEL	.	GCCTCAGGAGAACCAAACGTGTCC	NONE	.	.	.	.	.	ENSP00000346959	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000354886	Transcript	.	.	ENSG00000139974	19863	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S38A6_HUMAN	SLC38A6	HGNC	G3V3H5_HUMAN	.	UPI000049DDBA	deletion	SLC38A6,frameshift_variant,p.Arg496MetfsTer5,ENST00000451406,;SLC38A6,frameshift_variant,p.Gly480CysfsTer22,ENST00000456840,;SLC38A6,frameshift_variant,p.Arg501MetfsTer5,ENST00000354886,;SLC38A6,3_prime_UTR_variant,,ENST00000491344,;SLC38A6,3_prime_UTR_variant,,ENST00000529345,;SLC38A6,3_prime_UTR_variant,,ENST00000525723,;SLC38A6,downstream_gene_variant,,ENST00000526539,;	1666-1678	37	66	SUCCESS
HCN4	10021	.	GRCh37	15	73635757	73635757	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs786205804	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	61	70	0	ENST00000261917.3:c.1178G>A	p.Arg393His	p.R393H	ENST00000261917	NM_005477.2	393	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS10248.1	1178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	TGAGGCGGGAG	BUFFER|p.R396Q|c.1187G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000261917	.	2/8	.	.	.	.	.	.	.	.	rs786205804,COSM1374442	2/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious(0)	0,1	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,missense_variant,p.Arg393His,ENST00000261917,;RP11-272D12.1,downstream_gene_variant,,ENST00000557981,;RP11-272D12.1,downstream_gene_variant,,ENST00000558742,;	2172	70	136	SUCCESS
RP11-812E19.9	0	.	GRCh37	16	33647405	33647405	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	26	155	0	ENST00000558425.1:c.195G>A	p.Glu65=	p.E65=	ENST00000558425		65	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	.	195	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACTCCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF80,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000475107	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000558425	Transcript	.	.	ENSG00000259680	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-812E19.9	Clone_based_vega_gene	S4R460_HUMAN,S4R3C0_HUMAN	.	UPI000215111F	SNV	RP11-812E19.9,synonymous_variant,p.%3D,ENST00000569103,;RP11-812E19.9,synonymous_variant,p.%3D,ENST00000558425,;RP11-812E19.13,downstream_gene_variant,,ENST00000438532,;	195	155	225	SUCCESS
RLTPR	0	.	GRCh37	16	67688114	67688114	+	synonymous_variant	Silent	SNP	G	G	A	rs746664772	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	62	0	ENST00000334583.6:c.3183G>A	p.Glu1061=	p.E1061=	ENST00000334583	NM_001013838.1	1061	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS45513.1	3183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGGAATT	NONE	byFrequency	.	hmmpanther:PTHR24112:SF41,hmmpanther:PTHR24112	.	.	ENSP00000334958	.	30/38	.	.	.	.	.	.	.	.	rs746664772	30/38	PASS	ENST00000334583	Transcript	.	.	ENSG00000159753	27089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16C_HUMAN	RLTPR	HGNC	.	.	UPI00005194F2	SNV	RLTPR,synonymous_variant,p.%3D,ENST00000334583,;RLTPR,synonymous_variant,p.%3D,ENST00000545661,;ACD,downstream_gene_variant,,ENST00000219251,;ACD,downstream_gene_variant,,ENST00000602850,;ACD,downstream_gene_variant,,ENST00000393919,;ACD,downstream_gene_variant,,ENST00000602320,;ACD,downstream_gene_variant,,ENST00000602382,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602924,;ACD,downstream_gene_variant,,ENST00000602860,;ACD,downstream_gene_variant,,ENST00000602656,;RLTPR,upstream_gene_variant,,ENST00000602368,;ACD,downstream_gene_variant,,ENST00000602945,;RLTPR,upstream_gene_variant,,ENST00000602705,;ACD,downstream_gene_variant,,ENST00000602519,;RLTPR,downstream_gene_variant,,ENST00000602321,;RLTPR,downstream_gene_variant,,ENST00000602931,;ACD,downstream_gene_variant,,ENST00000602622,;RLTPR,downstream_gene_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602562,;	3511	62	40	SUCCESS
DPEP1	1800	.	GRCh37	16	89703015	89703015	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	62	0	ENST00000261615.4:c.445A>G	p.Ser149Gly	p.S149G	ENST00000261615		149	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS10982.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCAGTTTG	NONE	.	.	PROSITE_profiles:PS51365,hmmpanther:PTHR10443:SF17,hmmpanther:PTHR10443,PROSITE_patterns:PS00869,Gene3D:3.20.20.140,Pfam_domain:PF01244,Superfamily_domains:SSF51556	.	.	ENSP00000376807	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000393092	Transcript	.	.	ENSG00000015413	3002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPEP1_HUMAN	DPEP1	HGNC	H3BQS5_HUMAN,H3BP43_HUMAN	.	UPI000006DF95	SNV	DPEP1,missense_variant,p.Ser149Gly,ENST00000261615,;DPEP1,missense_variant,p.Ser149Gly,ENST00000393092,;DPEP1,missense_variant,p.Ser149Gly,ENST00000421184,;DPEP1,downstream_gene_variant,,ENST00000570029,;DPEP1,downstream_gene_variant,,ENST00000568281,;DPEP1,non_coding_transcript_exon_variant,,ENST00000564281,;DPEP1,non_coding_transcript_exon_variant,,ENST00000565249,;DPEP1,downstream_gene_variant,,ENST00000561484,;DPEP1,upstream_gene_variant,,ENST00000564645,;	736	62	82	SUCCESS
OR3A1	4994	.	GRCh37	17	3194961	3194961	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758236938	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	39	0	ENST00000323404.1:c.916A>T	p.Arg306Trp	p.R306W	ENST00000323404	NM_002550.2	306	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11023.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTCCAGA	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF90,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000313803	.	1/1	.	.	.	.	.	.	.	.	rs758236938	1/1	PASS	ENST00000323404	Transcript	.	.	ENSG00000180090	8282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.02)	.	OR3A1_HUMAN	OR3A1	HGNC	.	.	UPI00001410CA	SNV	OR3A1,missense_variant,p.Arg306Trp,ENST00000323404,;RP11-64J4.2,intron_variant,,ENST00000573901,;RP11-64J4.2,intron_variant,,ENST00000576166,;RP11-64J4.2,intron_variant,,ENST00000573491,;	916	39	53	SUCCESS
GRN	2896	.	GRCh37	17	42429084	42429086	+	inframe_deletion	In_Frame_Del	DEL	ATA	ATA	-	rs1486380359	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	ATA	ATA	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	42	0	ENST00000053867.3:c.1102_1104del	p.Asn368del	p.N368del	ENST00000053867	NM_002087.2	367	gATAat/gat	0	.	.	.	.	.	-	DN/D	protein_coding	YES	CCDS11483.1	1100-1102	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGTGATAATGTC	NONE	.	.	hmmpanther:PTHR12274,SMART_domains:SM00277,Superfamily_domains:SSF57277	.	.	ENSP00000053867	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000053867	Transcript	.	.	ENSG00000030582	4601	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRN_HUMAN	GRN	HGNC	K7EQK6_HUMAN,K7EQA7_HUMAN,K7ENN1_HUMAN,K7ENI2_HUMAN,K7EM89_HUMAN,K7ELY1_HUMAN,K7EK92_HUMAN,K7EJY4_HUMAN	.	UPI00000015E0	deletion	GRN,inframe_deletion,p.Asn368del,ENST00000053867,;GRN,inframe_deletion,p.Asn211del,ENST00000589265,;GRN,inframe_deletion,p.Asn182del,ENST00000586443,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000593167,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,upstream_gene_variant,,ENST00000586242,;FAM171A2,downstream_gene_variant,,ENST00000293443,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000585512,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,non_coding_transcript_exon_variant,,ENST00000589923,;GRN,downstream_gene_variant,,ENST00000588170,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000587958,;GRN,downstream_gene_variant,,ENST00000592323,;GRN,downstream_gene_variant,,ENST00000586782,;GRN,downstream_gene_variant,,ENST00000590984,;FAM171A2,downstream_gene_variant,,ENST00000589407,;	1162-1164	42	70	SUCCESS
HOXB6	3216	.	GRCh37	17	46675276	46675276	+	synonymous_variant	Silent	SNP	G	G	A	rs577327660	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	65	132	0	ENST00000225648.3:c.237C>T	p.Ala79=	p.A79=	ENST00000225648	NM_018952.4	79	gcC/gcT	0	.	A:0	.	A:0.0014	.	A	A	protein_coding	YES	CCDS11531.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAGGCCGG	NONE	by1000G	.	hmmpanther:PTHR24326:SF89,hmmpanther:PTHR24326	A:0	.	ENSP00000420009	A:0	2/3	.	.	.	.	.	.	.	.	rs577327660	2/3	PASS	ENST00000484302	Transcript	.	A:0.0002	ENSG00000108511	5117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	HXB6_HUMAN	HOXB6	HGNC	.	.	UPI000013C877	SNV	HOXB6,synonymous_variant,p.%3D,ENST00000225648,;HOXB6,synonymous_variant,p.%3D,ENST00000484302,;HOXB5,upstream_gene_variant,,ENST00000239151,;HOXB-AS3,intron_variant,,ENST00000481995,;HOXB-AS3,intron_variant,,ENST00000487849,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000466037,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000460041,;HOXB-AS3,intron_variant,,ENST00000477144,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000429755,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,intron_variant,,ENST00000474324,;HOXB-AS3,intron_variant,,ENST00000492897,;HOXB-AS3,upstream_gene_variant,,ENST00000491264,;HOXB-AS3,upstream_gene_variant,,ENST00000494420,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000490419,;HOXB6,upstream_gene_variant,,ENST00000470193,;	860	132	111	SUCCESS
PPP1R9B	84687	.	GRCh37	17	48227094	48227094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	81	0	ENST00000316878.6:c.779C>T	p.Ser260Leu	p.S260L	ENST00000316878	NM_032595.3	260	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	.	779	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGACGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16154:SF24,hmmpanther:PTHR16154	.	.	ENSP00000475417	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000316878	Transcript	.	.	ENSG00000108819	9298	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.2)	.	NEB2_HUMAN	PPP1R9B	HGNC	D3DTX6_HUMAN,Q96B17_HUMAN	.	UPI000066DA68	SNV	PPP1R9B,missense_variant,p.Ser260Leu,ENST00000316878,;AC002401.1,downstream_gene_variant,,ENST00000451776,;PPP1R9B,non_coding_transcript_exon_variant,,ENST00000501501,;PPP1R9B,upstream_gene_variant,,ENST00000513579,;	782	81	53	SUCCESS
FHOD3	80206	.	GRCh37	18	33935598	33935598	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	28	1	ENST00000359247.4:c.262G>A	p.Asp88Asn	p.D88N	ENST00000359247	NM_001281739.1	88	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS32816.1	262	SOMATICSNIPER|VARSCANS	.	TCCAGGATGAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213	.	.	ENSP00000257209	.	2/25	.	.	.	.	.	.	.	.	COSM3712665	2/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.246)	.	deleterious(0.03)	1	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Asp88Asn,ENST00000590592,;FHOD3,missense_variant,p.Asp88Asn,ENST00000445677,;FHOD3,missense_variant,p.Asp88Asn,ENST00000257209,;FHOD3,missense_variant,p.Asp88Asn,ENST00000359247,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	384	29	87	SUCCESS
CPAMD8	27151	.	GRCh37	19	17014374	17014374	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761853697	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	118	0	ENST00000443236.1:c.4608G>T	p.Met1536Ile	p.M1536I	ENST00000443236	NM_015692.2	1536	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS42519.1	4608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCATCAG	NONE	byFrequency	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412	.	.	ENSP00000402505	.	34/42	.	.	.	.	.	.	.	.	rs761853697	34/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	tolerated(0.27)	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Met12Ile,ENST00000594249,;CPAMD8,missense_variant,p.Met1536Ile,ENST00000443236,;CPAMD8,upstream_gene_variant,,ENST00000599287,;RN7SL835P,upstream_gene_variant,,ENST00000579920,;	4640	118	102	SUCCESS
ZNF714	148206	.	GRCh37	19	21299919	21299919	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1418869627	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	39	149	0	ENST00000596143.1:c.449A>G	p.Asp150Gly	p.D150G	ENST00000596143	NM_182515.3	150	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54239.1	449	RADIA|VARSCANS	.	ATGTGATGAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF104,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472368	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000596143	Transcript	.	.	ENSG00000160352	27124	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(1)	.	ZN714_HUMAN	ZNF714	HGNC	M0R2G4_HUMAN,M0QYV9_HUMAN	.	UPI000059D6C5	SNV	ZNF714,missense_variant,p.Asp150Gly,ENST00000596143,;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,5_prime_UTR_variant,,ENST00000597424,;ZNF714,5_prime_UTR_variant,,ENST00000597086,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000596367,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Asp150Gly,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;	774	149	232	SUCCESS
ZNF714	148206	.	GRCh37	19	21299920	21299920	+	synonymous_variant	Silent	SNP	T	T	C	rs1406743774	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	39	153	0	ENST00000596143.1:c.450T>C	p.Asp150=	p.D150=	ENST00000596143	NM_182515.3	150	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS54239.1	450	RADIA|VARSCANS	.	TGTGATGAATC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF104,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472368	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000596143	Transcript	.	.	ENSG00000160352	27124	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN714_HUMAN	ZNF714	HGNC	M0R2G4_HUMAN,M0QYV9_HUMAN	.	UPI000059D6C5	SNV	ZNF714,synonymous_variant,p.%3D,ENST00000596143,;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,5_prime_UTR_variant,,ENST00000597424,;ZNF714,5_prime_UTR_variant,,ENST00000597086,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000596367,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,synonymous_variant,p.%3D,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;	775	153	232	SUCCESS
ZNF714	148206	.	GRCh37	19	21299921	21299921	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1175145730	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	39	155	0	ENST00000596143.1:c.451G>A	p.Glu151Lys	p.E151K	ENST00000596143	NM_182515.3	151	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54239.1	451	RADIA|VARSCANS	.	GTGATGAATCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF104,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472368	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000596143	Transcript	.	.	ENSG00000160352	27124	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(1)	.	ZN714_HUMAN	ZNF714	HGNC	M0R2G4_HUMAN,M0QYV9_HUMAN	.	UPI000059D6C5	SNV	ZNF714,missense_variant,p.Glu151Lys,ENST00000596143,;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,5_prime_UTR_variant,,ENST00000597424,;ZNF714,5_prime_UTR_variant,,ENST00000597086,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000596367,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Glu151Lys,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;	776	155	234	SUCCESS
MYH14	79784	.	GRCh37	19	50713649	50713649	+	synonymous_variant	Silent	SNP	C	C	T	rs1034339867	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	139	0	ENST00000376970.2:c.27C>T	p.Pro9=	p.P9=	ENST00000376970	NM_024729.3	9	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54295.1	27	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCGGGCG	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318	.	.	ENSP00000470298	.	2/43	.	.	.	.	.	.	.	.	.	2/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,synonymous_variant,p.%3D,ENST00000440075,;MYH14,synonymous_variant,p.%3D,ENST00000601313,;MYH14,synonymous_variant,p.%3D,ENST00000376970,;MYH14,synonymous_variant,p.%3D,ENST00000596571,;MYH14,synonymous_variant,p.%3D,ENST00000425460,;MYH14,synonymous_variant,p.%3D,ENST00000599920,;MYH14,synonymous_variant,p.%3D,ENST00000598205,;MYH14,synonymous_variant,p.%3D,ENST00000262269,;	57	139	50	SUCCESS
KLK1	3816	.	GRCh37	19	51322506	51322506	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs576085704	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	11	69	0	ENST00000301420.2:c.733G>A	p.Val245Ile	p.V245I	ENST00000301420	NM_002257.3	245	Gtc/Atc	0	.	T:0.0008	.	T:0	.	T	V/I	protein_coding	YES	CCDS12804.1	733	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACGGCGA	NONE	by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF14,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	T:0	.	ENSP00000301420	T:0	5/5	.	.	.	.	.	.	.	.	rs576085704	5/5	PASS	ENST00000301420	Transcript	1	T:0.0002	ENSG00000167748	6357	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	T:0	deleterious(0.03)	.	KLK1_HUMAN	KLK1	HGNC	Q9UE84_HUMAN,F8WAM8_HUMAN	.	UPI000004CA0D	SNV	KLK1,missense_variant,p.Val245Ile,ENST00000301420,;KLK1,missense_variant,p.Val143Ile,ENST00000448701,;CTD-2568A17.5,downstream_gene_variant,,ENST00000326989,;CTD-2568A17.5,downstream_gene_variant,,ENST00000593632,;KLK1,3_prime_UTR_variant,,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK1,downstream_gene_variant,,ENST00000596300,;	769	69	85	SUCCESS
SIGLEC5	8778	.	GRCh37	19	52132796	52132796	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369175388	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	37	139	0	ENST00000534261.2:c.515C>T	p.Ala172Val	p.A172V	ENST00000534261		172	gCg/gTg	0	A:0	A:0.0008	.	A:0	.	A	A/V	protein_coding	YES	CCDS33088.1	515	MUTECT|VARSCANS	.	GTCCCGCTTCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	A:0.0002	ENSP00000455510	A:0	3/9	.	.	.	.	.	.	.	.	rs369175388	3/9	PASS	ENST00000570106	Transcript	.	A:0.0002	ENSG00000105501	10874	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	A:0	tolerated(0.29)	.	SIGL5_HUMAN	SIGLEC5	HGNC	.	.	UPI000011B40C	SNV	SIGLEC5,missense_variant,p.Ala172Val,ENST00000534261,;SIGLEC5,missense_variant,p.Ala172Val,ENST00000599649,;SIGLEC5,missense_variant,p.Ala172Val,ENST00000570106,;SIGLEC5,missense_variant,p.Ala172Val,ENST00000429354,;SIGLEC5,missense_variant,p.Ala172Val,ENST00000222107,;	515	139	142	SUCCESS
LGR6	59352	.	GRCh37	1	202287778	202287778	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	27	0	ENST00000367278.3:c.2347G>T	p.Gly783Trp	p.G783W	ENST00000367278	NM_001017403.1	783	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS30971.1	2347	MUTECT|MUSE	.	CAGACGGGCTC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00373,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12	.	.	ENSP00000356247	.	18/18	.	.	.	.	.	.	.	.	COSM1737574	18/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,missense_variant,p.Gly731Trp,ENST00000255432,;LGR6,missense_variant,p.Gly783Trp,ENST00000367278,;LGR6,missense_variant,p.Gly644Trp,ENST00000439764,;LGR6,3_prime_UTR_variant,,ENST00000487787,;	2436	27	57	SUCCESS
PYCR2	29920	.	GRCh37	1	226109910	226109910	+	synonymous_variant	Silent	SNP	C	C	T	rs761614919	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	44	0	ENST00000343818.6:c.312G>A	p.Val104=	p.V104=	ENST00000343818	NM_013328.3	104	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	.	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCACAGA	NONE	.	.	Superfamily_domains:SSF51735,Gene3D:3.40.50.720,hmmpanther:PTHR11645:SF4,hmmpanther:PTHR11645	.	.	ENSP00000414068	.	3/8	.	.	.	.	.	.	.	.	rs761614919	3/8	PASS	ENST00000432920	Transcript	.	.	ENSG00000255835	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP4-559A3.7	Clone_based_vega_gene	J3KR12_HUMAN	.	UPI0001AE79EB	SNV	RP4-559A3.7,synonymous_variant,p.%3D,ENST00000432920,;PYCR2,synonymous_variant,p.%3D,ENST00000343818,;PYCR2,non_coding_transcript_exon_variant,,ENST00000472798,;PYCR2,non_coding_transcript_exon_variant,,ENST00000489681,;PYCR2,non_coding_transcript_exon_variant,,ENST00000478402,;PYCR2,downstream_gene_variant,,ENST00000467298,;PYCR2,upstream_gene_variant,,ENST00000466127,;PYCR2,non_coding_transcript_exon_variant,,ENST00000446534,;PYCR2,downstream_gene_variant,,ENST00000366823,;	480	44	66	SUCCESS
TARBP1	6894	.	GRCh37	1	234534263	234534263	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	47	0	ENST00000040877.1:c.4108A>T	p.Ile1370Phe	p.I1370F	ENST00000040877	NM_005646.3	1370	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS1601.1	4108	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATAAGGC	NONE	.	.	PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11	.	.	ENSP00000040877	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000040877	Transcript	.	.	ENSG00000059588	11568	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.282)	.	deleterious(0.03)	.	TARB1_HUMAN	TARBP1	HGNC	.	.	UPI000006DB0F	SNV	TARBP1,missense_variant,p.Ile1370Phe,ENST00000040877,;TARBP1,non_coding_transcript_exon_variant,,ENST00000484454,;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000468077,;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,;TARBP1,intron_variant,,ENST00000483404,;TARBP1,downstream_gene_variant,,ENST00000481183,;	4108	47	85	SUCCESS
KMO	8564	.	GRCh37	1	241753311	241753311	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	8	27	0	ENST00000366559.4:c.1099-3C>T		p.X367_splice	ENST00000366559	NM_003679.4	367		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1618.1	.	RADIA|MUSE|VARSCANS	.	TATTGCAGATG	NONE	.	.	.	.	.	ENSP00000355517	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366559	Transcript	.	.	ENSG00000117009	6381	.	.	LOW	12/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KMO_HUMAN	KMO	HGNC	.	.	UPI000045632A	SNV	KMO,splice_region_variant,,ENST00000366559,;KMO,splice_region_variant,,ENST00000366555,;KMO,intron_variant,,ENST00000366558,;KMO,intron_variant,,ENST00000366557,;OPN3,downstream_gene_variant,,ENST00000331838,;OPN3,downstream_gene_variant,,ENST00000366554,;OPN3,downstream_gene_variant,,ENST00000469376,;OPN3,downstream_gene_variant,,ENST00000462265,;OPN3,downstream_gene_variant,,ENST00000478849,;OPN3,downstream_gene_variant,,ENST00000490673,;OPN3,downstream_gene_variant,,ENST00000463155,;KMO,downstream_gene_variant,,ENST00000431245,;	.	27	93	SUCCESS
TFAP2E	339488	.	GRCh37	1	36039066	36039066	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	110	0	ENST00000373235.3:c.-113C>T		p.*38*	ENST00000373235	NM_178548.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS393.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTACCGCAC	NONE	.	.	.	.	.	ENSP00000362332	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000373235	Transcript	.	.	ENSG00000116819	30774	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2E_HUMAN	TFAP2E	HGNC	.	.	UPI0000203EFC	SNV	TFAP2E,5_prime_UTR_variant,,ENST00000373235,;RP4-728D4.2,intron_variant,,ENST00000425881,;RP4-728D4.2,intron_variant,,ENST00000444348,;	96	110	72	SUCCESS
GRIK3	2899	.	GRCh37	1	37356579	37356579	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	37	48	0	ENST00000373091.3:c.234C>A	p.Thr78=	p.T78=	ENST00000373091	NM_000831.3	78	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS416.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAGGTTGT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53822,Pfam_domain:PF01094,Gene3D:3.40.50.2300	.	.	ENSP00000362183	.	2/16	.	.	.	.	.	.	.	.	COSM3489175,COSM3489176	2/16	PASS	ENST00000373091	Transcript	.	.	ENSG00000163873	4581	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	GRIK3_HUMAN	GRIK3	HGNC	Q96SC0_HUMAN	.	UPI000013E311	SNV	GRIK3,synonymous_variant,p.%3D,ENST00000373093,;GRIK3,synonymous_variant,p.%3D,ENST00000373091,;	251	48	118	SUCCESS
C8A	731	.	GRCh37	1	57378219	57378219	+	synonymous_variant	Silent	SNP	C	C	T	rs750037540	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	346	113	210	0	ENST00000361249.3:c.1524C>T	p.Pro508=	p.P508=	ENST00000361249	NM_000562.2	508	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS606.1	1524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCATCCT	NONE	.	.	hmmpanther:PTHR19325:SF338,hmmpanther:PTHR19325,Superfamily_domains:SSF57184,Prints_domain:PR00764	.	.	ENSP00000354458	.	10/11	.	.	.	.	.	.	.	.	rs750037540	10/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	SNV	C8A,synonymous_variant,p.%3D,ENST00000361249,;	1620	210	459	SUCCESS
ZNFX1	57169	.	GRCh37	20	47887219	47887219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	66	80	0	ENST00000371752.1:c.1130G>T	p.Arg377Leu	p.R377L	ENST00000371752		377	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS13417.1	1130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCGCAGG	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF341	.	.	ENSP00000379412	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000396105	Transcript	.	.	ENSG00000124201	29271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZNFX1_HUMAN	ZNFX1	HGNC	Q5JXR5_HUMAN	.	UPI000012DD83	SNV	ZNFX1,missense_variant,p.Arg377Leu,ENST00000371752,;ZNFX1,missense_variant,p.Arg181Leu,ENST00000455070,;ZNFX1,missense_variant,p.Arg377Leu,ENST00000371754,;ZNFX1,missense_variant,p.Arg377Leu,ENST00000396105,;ZNFX1,missense_variant,p.Arg377Leu,ENST00000371744,;	1377	80	179	SUCCESS
MORC2	22880	.	GRCh37	22	31342353	31342353	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	39	47	0	ENST00000397641.3:c.401T>G	p.Phe134Cys	p.F134C	ENST00000397641		134	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS33636.1	215	RADIA|MUTECT|MUSE	.	CATGAAACGTG	NONE	.	.	hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337,Pfam_domain:PF13589,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000215862	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000215862	Transcript	.	.	ENSG00000133422	23573	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MORC2_HUMAN	MORC2	HGNC	.	.	UPI000012DB74	SNV	MORC2,missense_variant,p.Phe72Cys,ENST00000215862,;MORC2,missense_variant,p.Phe134Cys,ENST00000397641,;MORC2,upstream_gene_variant,,ENST00000469915,;MORC2,non_coding_transcript_exon_variant,,ENST00000476152,;	1579	47	140	SUCCESS
PLXNB2	23654	.	GRCh37	22	50727540	50727540	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	49	0	ENST00000359337.4:c.1100A>G	p.Glu367Gly	p.E367G	ENST00000359337	NM_012401.3	367	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS43035.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTCCGAG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000409171	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,missense_variant,p.Glu367Gly,ENST00000359337,;PLXNB2,missense_variant,p.Glu26Gly,ENST00000411680,;PLXNB2,missense_variant,p.Glu367Gly,ENST00000449103,;PLXNB2,missense_variant,p.Glu367Gly,ENST00000432455,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000496720,;	1241	49	44	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105892080	105892080	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	23	122	0	ENST00000258449.1:c.1602C>G	p.Thr534=	p.T534=	ENST00000258449	NM_001142621.1	534	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2067.1	1602	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAGGTAAG	NONE	.	.	hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF10366	.	.	ENSP00000377027	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,synonymous_variant,p.%3D,ENST00000393359,;TGFBRAP1,synonymous_variant,p.%3D,ENST00000258449,;	2029	122	158	SUCCESS
TMEM87B	84910	.	GRCh37	2	112813302	112813302	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	22	235	0	ENST00000283206.4:c.134A>C	p.Glu45Ala	p.E45A	ENST00000283206	NM_032824.2	45	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS33275.1	134	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGAGCTCG	NONE	.	.	hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF8	.	.	ENSP00000283206	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000283206	Transcript	.	.	ENSG00000153214	25913	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TM87B_HUMAN	TMEM87B	HGNC	Q53RE0_HUMAN	.	UPI000004B634	SNV	TMEM87B,missense_variant,p.Glu45Ala,ENST00000283206,;TMEM87B,missense_variant,p.Glu3Ala,ENST00000452614,;TMEM87B,missense_variant,p.Glu3Ala,ENST00000452029,;	503	235	188	SUCCESS
DBI	1622	.	GRCh37	2	120125394	120125394	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	66	0	ENST00000355857.3:c.10-370G>A		p.*4*	ENST00000355857	NM_001178043.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54391.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGTGGTG	NONE	.	.	.	.	.	ENSP00000440698	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000542275	Transcript	.	.	ENSG00000155368	2690	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACBP_HUMAN	DBI	HGNC	B8ZWD8_HUMAN	.	UPI00018E1AD6	SNV	DBI,5_prime_UTR_variant,,ENST00000393103,;DBI,intron_variant,,ENST00000542275,;DBI,intron_variant,,ENST00000311521,;DBI,intron_variant,,ENST00000535617,;DBI,intron_variant,,ENST00000355857,;DBI,intron_variant,,ENST00000409094,;DBI,intron_variant,,ENST00000535757,;C2orf76,upstream_gene_variant,,ENST00000409523,;C2orf76,upstream_gene_variant,,ENST00000409877,;C2orf76,upstream_gene_variant,,ENST00000414534,;C2orf76,upstream_gene_variant,,ENST00000334816,;C2orf76,upstream_gene_variant,,ENST00000409466,;DBI,intron_variant,,ENST00000460901,;C2orf76,upstream_gene_variant,,ENST00000498049,;DBI,intron_variant,,ENST00000492375,;DBI,upstream_gene_variant,,ENST00000475783,;	.	66	84	SUCCESS
PDE1A	5136	.	GRCh37	2	183129067	183129067	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1418750796	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	33	69	0	ENST00000410103.1:c.176C>T	p.Ala59Val	p.A59V	ENST00000410103	NM_001003683.2	59	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2285.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCGCATAT	NONE	.	.	hmmpanther:PTHR11347:SF34,hmmpanther:PTHR11347	.	.	ENSP00000410309	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000435564	Transcript	.	.	ENSG00000115252	8774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PDE1A_HUMAN	PDE1A	HGNC	Q9Y633_HUMAN,Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN,B7Z3A7_HUMAN	.	UPI0000001072	SNV	PDE1A,missense_variant,p.Ala59Val,ENST00000456212,;PDE1A,missense_variant,p.Ala43Val,ENST00000351439,;PDE1A,missense_variant,p.Ala59Val,ENST00000331935,;PDE1A,missense_variant,p.Ala59Val,ENST00000410103,;PDE1A,missense_variant,p.Ala59Val,ENST00000358139,;PDE1A,missense_variant,p.Ala59Val,ENST00000435564,;PDE1A,missense_variant,p.Ala43Val,ENST00000409365,;PDE1A,5_prime_UTR_variant,,ENST00000536095,;PDE1A,non_coding_transcript_exon_variant,,ENST00000462938,;PDE1A,non_coding_transcript_exon_variant,,ENST00000482782,;PDE1A,non_coding_transcript_exon_variant,,ENST00000495511,;	377	69	186	SUCCESS
USP37	57695	.	GRCh37	2	219374706	219374706	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	47	70	0	ENST00000258399.3:c.1021C>T	p.Gln341Ter	p.Q341*	ENST00000258399	NM_020935.2	341	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS2418.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTGCAGTT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF125,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000258399	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000258399	Transcript	.	.	ENSG00000135913	20063	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP37_HUMAN	USP37	HGNC	.	.	UPI0000160023	SNV	USP37,stop_gained,p.Gln341Ter,ENST00000258399,;USP37,stop_gained,p.Gln341Ter,ENST00000418019,;USP37,stop_gained,p.Gln269Ter,ENST00000415516,;USP37,stop_gained,p.Gln341Ter,ENST00000454775,;USP37,non_coding_transcript_exon_variant,,ENST00000486242,;USP37,downstream_gene_variant,,ENST00000478329,;	1434	70	117	SUCCESS
GPC1	2817	.	GRCh37	2	241405663	241405663	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	82	151	0	ENST00000264039.2:c.1633C>T	p.Leu545Phe	p.L545F	ENST00000264039	NM_002081.2	545	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2534.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF8,Pfam_domain:PF01153	.	.	ENSP00000264039	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000264039	Transcript	.	.	ENSG00000063660	4449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	tolerated(0.32)	.	GPC1_HUMAN	GPC1	HGNC	.	.	UPI000013D4AA	SNV	GPC1,missense_variant,p.Leu545Phe,ENST00000264039,;GPC1,missense_variant,p.Leu585Phe,ENST00000420138,;GPC1,downstream_gene_variant,,ENST00000427506,;GPC1,downstream_gene_variant,,ENST00000455111,;GPC1,downstream_gene_variant,,ENST00000426280,;GPC1,downstream_gene_variant,,ENST00000425056,;GPC1,non_coding_transcript_exon_variant,,ENST00000466624,;GPC1,non_coding_transcript_exon_variant,,ENST00000469694,;GPC1,non_coding_transcript_exon_variant,,ENST00000495100,;	1881	151	174	SUCCESS
PAPOLG	64895	.	GRCh37	2	61014655	61014655	+	synonymous_variant	Silent	SNP	C	C	T	rs927949343	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	23	129	0	ENST00000238714.3:c.1296C>T	p.Tyr432=	p.Y432=	ENST00000238714	NM_022894.3	432	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS1863.1	1296	MUTECT|MUSE|VARSCANS	.	AATTACGTATC	NONE	.	.	hmmpanther:PTHR10682:SF6,hmmpanther:PTHR10682,Pfam_domain:PF04926,Gene3D:3.30.70.590,PIRSF_domain:PIRSF018425,Superfamily_domains:SSF55003	.	.	ENSP00000238714	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000238714	Transcript	.	.	ENSG00000115421	14982	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAPOG_HUMAN	PAPOLG	HGNC	Q9H968_HUMAN,Q53T81_HUMAN,Q53T17_HUMAN,Q2TAI9_HUMAN,F8WAT4_HUMAN	.	UPI00000704EB	SNV	PAPOLG,synonymous_variant,p.%3D,ENST00000412217,;PAPOLG,synonymous_variant,p.%3D,ENST00000238714,;PAPOLG,downstream_gene_variant,,ENST00000483370,;PAPOLG,3_prime_UTR_variant,,ENST00000414060,;PAPOLG,non_coding_transcript_exon_variant,,ENST00000496283,;PAPOLG,intron_variant,,ENST00000453839,;PAPOLG,upstream_gene_variant,,ENST00000470208,;	1545	129	238	SUCCESS
ITPR1	3708	.	GRCh37	3	4699862	4699862	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759008439	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	45	0	ENST00000354582.6:c.1051A>G	p.Met351Val	p.M351V	ENST00000354582		351	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS54551.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGATGGTA	NONE	.	.	PROSITE_profiles:PS50919,hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,SMART_domains:SM00472,Superfamily_domains:SSF82109	.	.	ENSP00000306253	.	12/61	.	.	.	.	.	.	.	.	rs759008439	12/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.32)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Met351Val,ENST00000423119,;ITPR1,missense_variant,p.Met336Val,ENST00000456211,;ITPR1,missense_variant,p.Met351Val,ENST00000357086,;ITPR1,missense_variant,p.Met336Val,ENST00000302640,;ITPR1,missense_variant,p.Met336Val,ENST00000443694,;ITPR1,missense_variant,p.Met351Val,ENST00000354582,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;	1356	45	73	SUCCESS
BAP1	8314	.	GRCh37	3	52439158	52439167	+	frameshift_variant	Frame_Shift_Del	DEL	CTAGAAAGGC	CTAGAAAGGC	-	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	CTAGAAAGGC	CTAGAAAGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	79	0	ENST00000460680.1:c.1075_1084del	p.Ala359ThrfsTer68	p.A359Tfs*68	ENST00000460680	NM_004656.3	359	GCCTTTCTAGac/ac	0	.	.	.	.	.	-	AFLD/X	protein_coding	YES	CCDS2853.1	1075-1084	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|MUSE*|MUTECT*|VARSCANS*	.	GATTGTCTAGAAAGGCCGGCA	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	7	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,frameshift_variant,p.Ala341ThrfsTer68,ENST00000296288,;BAP1,frameshift_variant,p.Ala359ThrfsTer68,ENST00000460680,;BAP1,upstream_gene_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	1547-1556	79	42	SUCCESS
TLL1	7092	.	GRCh37	4	166986896	166986900	+	frameshift_variant	Frame_Shift_Del	DEL	GCAAA	GCAAA	-	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	GCAAA	GCAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	74	17	54	0	ENST00000061240.2:c.2069_2073del	p.Gly690ValfsTer5	p.G690Vfs*5	ENST00000061240	NM_012464.4	690	gGCAAA/g	0	.	.	.	.	.	-	GK/X	protein_coding	YES	CCDS3811.1	2069-2073	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCATGGCAAATTCTG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	deletion	TLL1,frameshift_variant,p.Gly690ValfsTer5,ENST00000061240,;TLL1,frameshift_variant,p.Gly713ValfsTer5,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2716-2720	54	91	SUCCESS
TACC3	10460	.	GRCh37	4	1746478	1746478	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	63	62	0	ENST00000313288.4:c.2370G>A	p.Gln790=	p.Q790=	ENST00000313288	NM_006342.2	790	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS3352.1	2370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13924,Pfam_domain:PF05010	.	.	ENSP00000326550	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000313288	Transcript	1	.	ENSG00000013810	11524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TACC3_HUMAN	TACC3	HGNC	E7EMT0_HUMAN,C9JA91_HUMAN	.	UPI0000136869	SNV	TACC3,synonymous_variant,p.%3D,ENST00000313288,;TACC3,non_coding_transcript_exon_variant,,ENST00000484264,;TACC3,downstream_gene_variant,,ENST00000470808,;AC016773.1,downstream_gene_variant,,ENST00000404054,;	2476	62	123	SUCCESS
CEP44	80817	.	GRCh37	4	175224920	175224920	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	31	167	0	ENST00000296519.4:c.304G>A	p.Ala102Thr	p.A102T	ENST00000296519		102	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47163.1	304	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTGCAGAA	NONE	.	.	hmmpanther:PTHR31477,hmmpanther:PTHR31477:SF1,Pfam_domain:PF15007	.	.	ENSP00000389427	.	5/11	.	.	.	.	.	.	.	.	COSM1618602	5/11	PASS	ENST00000457424	Transcript	.	.	ENSG00000164118	29356	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.897)	.	deleterious(0)	1	CEP44_HUMAN	CEP44	HGNC	D6RGX6_HUMAN,D6RC25_HUMAN,D6RBX1_HUMAN	.	UPI000014031D	SNV	CEP44,missense_variant,p.Ala102Thr,ENST00000296519,;CEP44,missense_variant,p.Ala102Thr,ENST00000514712,;CEP44,missense_variant,p.Ala102Thr,ENST00000503053,;CEP44,missense_variant,p.Ala102Thr,ENST00000503780,;CEP44,missense_variant,p.Ala102Thr,ENST00000505124,;CEP44,missense_variant,p.Ala102Thr,ENST00000457424,;CEP44,missense_variant,p.Ala102Thr,ENST00000515299,;CEP44,missense_variant,p.Ala102Thr,ENST00000426172,;CEP44,missense_variant,p.Ala102Thr,ENST00000396791,;	609	167	218	SUCCESS
KLF3	51274	.	GRCh37	4	38696400	38696400	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs745668753	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	7	60	0	ENST00000261438.5:c.729G>C	p.Lys243Asn	p.K243N	ENST00000261438	NM_016531.5	243	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS3444.1	729	MUTECT|MUSE	.	GGGAAGAGACC	NONE	.	.	hmmpanther:PTHR23223:SF3,hmmpanther:PTHR23223	.	.	ENSP00000261438	.	5/6	.	.	.	.	.	.	.	.	rs745668753,COSM1539999	5/6	PASS	ENST00000261438	Transcript	.	.	ENSG00000109787	16516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.671)	.	deleterious(0.02)	0,1	KLF3_HUMAN	KLF3	HGNC	.	.	UPI000012DED5	SNV	KLF3,missense_variant,p.Lys243Asn,ENST00000261438,;KLF3,downstream_gene_variant,,ENST00000514033,;	1034	60	97	SUCCESS
PRR16	51334	.	GRCh37	5	120022106	120022106	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1162088448	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	29	98	0	ENST00000407149.2:c.617G>A	p.Arg206Gln	p.R206Q	ENST00000407149		206	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS4127.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGGTTTA	CODON|p.R183W|c.547C>T|3	.	.	hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	COSM339835	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	1	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,missense_variant,p.Arg206Gln,ENST00000407149,;PRR16,missense_variant,p.Arg136Gln,ENST00000446965,;PRR16,missense_variant,p.Arg136Gln,ENST00000505123,;PRR16,missense_variant,p.Arg136Gln,ENST00000509923,;PRR16,missense_variant,p.Arg183Gln,ENST00000379551,;	905	98	170	SUCCESS
AFF4	27125	.	GRCh37	5	132270588	132270588	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	51	0	ENST00000265343.5:c.169G>A	p.Gly57Arg	p.G57R	ENST00000265343	NM_014423.3	57	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4164.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCCAAGCA	NONE	.	.	hmmpanther:PTHR10528:SF15,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000265343	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000265343	Transcript	1	.	ENSG00000072364	17869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AFF4_HUMAN	AFF4	HGNC	C9JCE0_HUMAN	.	UPI000006F558	SNV	AFF4,missense_variant,p.Gly57Arg,ENST00000378595,;AFF4,missense_variant,p.Gly57Arg,ENST00000421773,;AFF4,missense_variant,p.Gly57Arg,ENST00000265343,;AFF4,upstream_gene_variant,,ENST00000425658,;AFF4,non_coding_transcript_exon_variant,,ENST00000491831,;AFF4,upstream_gene_variant,,ENST00000378593,;AFF4,non_coding_transcript_exon_variant,,ENST00000465484,;	549	51	59	SUCCESS
MRPL36	64979	.	GRCh37	5	1798831	1798831	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	7	248	0	ENST00000382647.7:c.219G>C	p.Lys73Asn	p.K73N	ENST00000382647		73	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS3865.1	219	MUTECT|MUSE	.	CGCTTCTTAAG	NONE	.	.	Superfamily_domains:SSF57840,TIGRFAM_domain:TIGR01022,Pfam_domain:PF00444,hmmpanther:PTHR18804:SF7,hmmpanther:PTHR18804,HAMAP:MF_00251	.	.	ENSP00000423399	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000508987	Transcript	.	.	ENSG00000171421	14490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	RM36_HUMAN	MRPL36	HGNC	D6RB74_HUMAN	.	UPI00000527E7	SNV	MRPL36,missense_variant,p.Lys73Asn,ENST00000508987,;MRPL36,missense_variant,p.Lys73Asn,ENST00000505059,;MRPL36,missense_variant,p.Lys73Asn,ENST00000505818,;MRPL36,missense_variant,p.Lys73Asn,ENST00000382647,;NDUFS6,upstream_gene_variant,,ENST00000469176,;NDUFS6,upstream_gene_variant,,ENST00000274137,;MRPL36,downstream_gene_variant,,ENST00000510999,;NDUFS6,upstream_gene_variant,,ENST00000510329,;	356	248	265	SUCCESS
TRIM23	373	.	GRCh37	5	64909990	64909990	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs766787623	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	184	196	1	ENST00000231524.9:c.301C>T	p.Arg101Ter	p.R101*	ENST00000231524	NM_001656.3	101	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS3987.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCGTTCCA	NONE	.	.	.	.	.	ENSP00000231524	.	3/11	.	.	.	.	.	.	.	.	rs766787623,COSM79305	3/11	PASS	ENST00000231524	Transcript	.	.	ENSG00000113595	660	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TRI23_HUMAN	TRIM23	HGNC	D6R9E9_HUMAN	.	UPI0000125DB3	SNV	TRIM23,stop_gained,p.Arg101Ter,ENST00000381018,;TRIM23,stop_gained,p.Arg101Ter,ENST00000231524,;TRIM23,stop_gained,p.Arg101Ter,ENST00000274327,;TRIM23,downstream_gene_variant,,ENST00000513794,;TRIM23,upstream_gene_variant,,ENST00000508808,;TRIM23,stop_gained,p.Arg101Ter,ENST00000505205,;TRIM23,3_prime_UTR_variant,,ENST00000506400,;	673	197	412	SUCCESS
SLC30A5	64924	.	GRCh37	5	68400435	68400435	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	18	0	ENST00000396591.3:c.274-23A>G		p.*92*	ENST00000396591	NM_022902.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3996.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAATTTT	NONE	.	.	.	.	.	ENSP00000379836	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396591	Transcript	.	.	ENSG00000145740	19089	.	.	MODIFIER	3/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNT5_HUMAN	SLC30A5	HGNC	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN	.	UPI0000073958	SNV	SLC30A5,3_prime_UTR_variant,,ENST00000380860,;SLC30A5,intron_variant,,ENST00000396591,;SLC30A5,intron_variant,,ENST00000504103,;SLC30A5,downstream_gene_variant,,ENST00000502979,;SLC30A5,intron_variant,,ENST00000507354,;	.	18	32	SUCCESS
GPR98	0	.	GRCh37	5	90106981	90106981	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	37	115	0	ENST00000405460.2:c.15904A>G	p.Ile5302Val	p.I5302V	ENST00000405460	NM_032119.3	5302	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS47246.1	15904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTATATTC	NONE	.	.	Superfamily_domains:SSF141072,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	74/90	.	.	.	.	.	.	.	.	.	74/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ile5302Val,ENST00000405460,;GPR98,missense_variant,p.Ile963Val,ENST00000425867,;GPR98,downstream_gene_variant,,ENST00000513828,;	16000	115	163	SUCCESS
TMEM168	64418	.	GRCh37	7	112407741	112407741	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	25	0	ENST00000312814.6:c.1605C>A	p.Ser535=	p.S535=	ENST00000312814	NM_001287497.1	535	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5757.1	1605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGGAACC	NONE	.	.	hmmpanther:PTHR14437:SF2,hmmpanther:PTHR14437	.	.	ENSP00000323068	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000312814	Transcript	.	.	ENSG00000146802	25826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM168_HUMAN	TMEM168	HGNC	C9JVE9_HUMAN,C9IZT1_HUMAN,B4DDS0_HUMAN	.	UPI000004DACB	SNV	TMEM168,synonymous_variant,p.%3D,ENST00000418785,;TMEM168,synonymous_variant,p.%3D,ENST00000454074,;TMEM168,synonymous_variant,p.%3D,ENST00000447395,;TMEM168,synonymous_variant,p.%3D,ENST00000312814,;	2166	25	59	SUCCESS
HIPK2	28996	.	GRCh37	7	139311420	139311425	+	inframe_deletion	In_Frame_Del	DEL	TTCTCT	TTCTCT	-	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	TTCTCT	TTCTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	115	15	45	0	ENST00000406875.3:c.1541_1546del	p.Lys514_Arg515del	p.K514_R515del	ENST00000406875	NM_022740.4	514	aAGAGAAtc/atc	0	.	.	.	.	.	-	KRI/I	protein_coding	YES	.	1541-1546	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTGATTCTCTTGTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000385571	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	deletion	HIPK2,inframe_deletion,p.Lys514_Arg515del,ENST00000342645,;HIPK2,inframe_deletion,p.Lys514_Arg515del,ENST00000428878,;HIPK2,inframe_deletion,p.Lys514_Arg515del,ENST00000406875,;	1636-1641	45	130	SUCCESS
NOS3	4846	.	GRCh37	7	150696315	150696315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749115207	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	40	0	ENST00000297494.3:c.994G>A	p.Ala332Thr	p.A332T	ENST00000297494	NM_000603.4	332	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5912.1	994	RADIA|MUTECT|MUSE|VARSCANS	.	GGTACGCCCTC	NONE	byFrequency	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.1230.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	.	.	ENSP00000297494	.	9/27	.	.	.	.	.	.	.	.	rs749115207	9/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,missense_variant,p.Ala332Thr,ENST00000467517,;NOS3,missense_variant,p.Ala332Thr,ENST00000484524,;NOS3,missense_variant,p.Ala126Thr,ENST00000461406,;NOS3,missense_variant,p.Ala332Thr,ENST00000297494,;NOS3,upstream_gene_variant,,ENST00000460603,;	1351	40	56	SUCCESS
TRIM50	135892	.	GRCh37	7	72727356	72727356	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370785473	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	82	0	ENST00000333149.2:c.1025G>A	p.Arg342His	p.R342H	ENST00000333149	NM_001281450.1	342	cGc/cAc	0	A:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS34654.1	1025	MUTECT|MUSE	.	AGCCGCGGCTG	NONE	byFrequency|byCluster	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF231,PROSITE_profiles:PS50188	.	A:0	ENSP00000327994	.	7/7	.	.	.	.	.	.	.	.	rs370785473	7/7	PASS	ENST00000333149	Transcript	.	.	ENSG00000146755	19017	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.696)	.	tolerated(0.07)	.	TRI50_HUMAN	TRIM50	HGNC	.	.	UPI000015FD8F	SNV	TRIM50,missense_variant,p.Arg342His,ENST00000333149,;TRIM50,missense_variant,p.Arg342His,ENST00000453152,;NSUN5,upstream_gene_variant,,ENST00000438747,;NSUN5,upstream_gene_variant,,ENST00000428206,;NSUN5,upstream_gene_variant,,ENST00000310326,;NSUN5,upstream_gene_variant,,ENST00000252594,;TRIM50,non_coding_transcript_exon_variant,,ENST00000488217,;NSUN5,upstream_gene_variant,,ENST00000455763,;NSUN5,upstream_gene_variant,,ENST00000471461,;RP11-483G21.3,upstream_gene_variant,,ENST00000417100,;	1226	82	81	SUCCESS
C8orf33	65265	.	GRCh37	8	146278706	146278706	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs376887084	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	39	145	0	ENST00000331434.6:c.427C>T	p.Arg143Ter	p.R143*	ENST00000331434	NM_023080.2	143	Cga/Tga	0	T:0.0002	.	.	.	.	T	R/*	protein_coding	YES	CCDS34974.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCCGAACC	NONE	byCluster	.	hmmpanther:PTHR13602,hmmpanther:PTHR13602:SF1,Pfam_domain:PF15393	.	T:0	ENSP00000330361	.	4/5	.	.	.	.	.	.	.	.	rs376887084	4/5	PASS	ENST00000331434	Transcript	.	.	ENSG00000182307	26104	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CH033_HUMAN	C8orf33	HGNC	.	.	UPI0000070F82	SNV	C8orf33,stop_gained,p.Arg143Ter,ENST00000331434,;C8orf33,non_coding_transcript_exon_variant,,ENST00000534350,;C8orf33,non_coding_transcript_exon_variant,,ENST00000529593,;C8orf33,non_coding_transcript_exon_variant,,ENST00000530455,;C8orf33,non_coding_transcript_exon_variant,,ENST00000524395,;AC139103.1,downstream_gene_variant,,ENST00000534696,;	541	145	181	SUCCESS
HGSNAT	138050	.	GRCh37	8	43054562	43054562	+	synonymous_variant	Silent	SNP	C	C	T	rs1420418918	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	56	0	ENST00000379644.4:c.1758C>T	p.His586=	p.H586=	ENST00000379644	NM_152419.2	586	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS47852.1	1758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGAGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2	.	.	ENSP00000368965	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000379644	Transcript	1	.	ENSG00000165102	26527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HGNAT_HUMAN	HGSNAT	HGNC	.	.	UPI000057A06E	SNV	HGSNAT,synonymous_variant,p.%3D,ENST00000521576,;HGSNAT,synonymous_variant,p.%3D,ENST00000458501,;HGSNAT,synonymous_variant,p.%3D,ENST00000297798,;HGSNAT,synonymous_variant,p.%3D,ENST00000379644,;HGSNAT,downstream_gene_variant,,ENST00000524016,;HGSNAT,non_coding_transcript_exon_variant,,ENST00000519705,;HGSNAT,downstream_gene_variant,,ENST00000523989,;	1800	56	94	SUCCESS
PAG1	55824	.	GRCh37	8	81888977	81888977	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	84	63	0	ENST00000220597.4:c.1101A>C	p.Lys367Asn	p.K367N	ENST00000220597	NM_018440.3	367	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS6227.1	1101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTTTTTTC	NONE	.	.	Pfam_domain:PF15347,hmmpanther:PTHR16322,hmmpanther:PTHR16322:SF0	.	.	ENSP00000220597	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000220597	Transcript	.	.	ENSG00000076641	30043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.37)	.	PHAG1_HUMAN	PAG1	HGNC	.	.	UPI0000072E56	SNV	PAG1,missense_variant,p.Lys367Asn,ENST00000220597,;PAG1,upstream_gene_variant,,ENST00000523463,;	1812	63	203	SUCCESS
CACNA1B	774	.	GRCh37	9	140870442	140870442	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200270869	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	36	0	ENST00000371372.1:c.1627C>T	p.Arg543Trp	p.R543W	ENST00000371372	NM_001243812.1	543	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS59522.1	1627	MUTECT|MUSE	.	ACTTCCGGTCC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	12/47	.	.	.	.	.	.	.	.	rs200270869,COSM1107202	12/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.501)	.	deleterious(0)	0,1	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Arg544Trp,ENST00000371355,;CACNA1B,missense_variant,p.Arg544Trp,ENST00000371357,;CACNA1B,missense_variant,p.Arg543Trp,ENST00000277551,;CACNA1B,missense_variant,p.Arg543Trp,ENST00000371363,;CACNA1B,missense_variant,p.Arg543Trp,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	1772	36	41	SUCCESS
DDX26B	0	.	GRCh37	X	134654853	134654853	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	34	0	ENST00000370752.4:c.-65C>T		p.*22*	ENST00000370752	NM_182540.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35401.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCGTACG	NONE	.	.	.	.	.	ENSP00000359788	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000370752	Transcript	.	.	ENSG00000165359	27334	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DX26B_HUMAN	DDX26B	HGNC	.	.	UPI00004A3AAF	SNV	DDX26B,5_prime_UTR_variant,,ENST00000370752,;DDX26B-AS1,upstream_gene_variant,,ENST00000430820,;DDX26B,non_coding_transcript_exon_variant,,ENST00000481908,;DDX26B,upstream_gene_variant,,ENST00000493637,;	270	34	42	SUCCESS
DCAF8L1	139425	.	GRCh37	X	27999538	27999538	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	95	150	0	ENST00000441525.1:c.-87G>A		p.*29*	ENST00000441525	NM_001017930.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35222.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACGGACG	NONE	.	.	.	.	.	ENSP00000405222	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000441525	Transcript	.	.	ENSG00000226372	31810	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC8L1_HUMAN	DCAF8L1	HGNC	.	.	UPI000022DD1B	SNV	DCAF8L1,5_prime_UTR_variant,,ENST00000441525,;	29	150	272	SUCCESS
MXRA5	25878	.	GRCh37	X	3228056	3228056	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371025447	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	16	113	0	ENST00000217939.6:c.8188G>A	p.Ala2730Thr	p.A2730T	ENST00000217939	NM_015419.3	2730	Gcc/Acc	0	T:0.0003	.	.	.	.	T	A/T	protein_coding	YES	CCDS14124.1	8188	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGCGATCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	T:0	ENSP00000217939	.	7/7	.	.	.	.	.	.	.	.	rs371025447,COSM388213,COSM388214	7/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	0,1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Ala2730Thr,ENST00000217939,;	8343	113	112	SUCCESS
NLGN4X	57502	.	GRCh37	X	5821285	5821285	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs398124364	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	85	321	0	ENST00000275857.6:c.1434C>A	p.Ser478Arg	p.S478R	ENST00000275857	NM_020742.2	478	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS14126.1	1434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	ATTTCGCTTTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	5/6	.	.	.	.	.	.	.	.	rs398124364,COSM1468819	5/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.997)	.	deleterious(0.02)	0,1	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Ser478Arg,ENST00000381092,;NLGN4X,missense_variant,p.Ser478Arg,ENST00000381095,;NLGN4X,missense_variant,p.Ser498Arg,ENST00000381093,;NLGN4X,missense_variant,p.Ser478Arg,ENST00000538097,;NLGN4X,missense_variant,p.Ser478Arg,ENST00000275857,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000477079,;	2062	321	294	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83359580	83359580	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	38	128	0	ENST00000262752.2:c.1541G>A	p.Cys514Tyr	p.C514Y	ENST00000262752	NM_014496.4	514	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS14451.1	1541	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACATTTT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000262752	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(1)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.Cys514Tyr,ENST00000262752,;RPS6KA6,missense_variant,p.Cys514Tyr,ENST00000543399,;RPS6KA6,non_coding_transcript_exon_variant,,ENST00000495332,;	1549	128	298	SUCCESS
PNLIPRP3	119548	.	GRCh37	10	118202687	118202687	+	splice_donor_variant	Splice_Site	SNP	G	G	C	rs767204004	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	6	62	0	ENST00000369230.3:c.324+1G>C		p.X108_splice	ENST00000369230	NM_001011709.2	108		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31292.1	.	MUTECT|MUSE	.	GCAATGTATGA	NONE	byFrequency	.	.	.	.	ENSP00000358232	.	.	.	.	.	.	.	.	.	.	rs767204004	.	PASS	ENST00000369230	Transcript	.	.	ENSG00000203837	23492	.	.	HIGH	3/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPR3_HUMAN	PNLIPRP3	HGNC	.	.	UPI000013DB40	SNV	PNLIPRP3,splice_donor_variant,,ENST00000369230,;HMGB3P8,upstream_gene_variant,,ENST00000449709,;	.	62	84	SUCCESS
FAM13C	220965	.	GRCh37	10	61029804	61029804	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	53	0	ENST00000373868.2:c.658G>C	p.Val220Leu	p.V220L	ENST00000373868	NM_198215.3	220	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS7255.1	658	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACAGAGT	NONE	.	.	hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(1)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,missense_variant,p.Val220Leu,ENST00000419214,;FAM13C,missense_variant,p.Val220Leu,ENST00000422313,;FAM13C,missense_variant,p.Val137Leu,ENST00000468840,;FAM13C,missense_variant,p.Val220Leu,ENST00000373868,;FAM13C,missense_variant,p.Val241Leu,ENST00000277705,;FAM13C,missense_variant,p.Val241Leu,ENST00000442566,;FAM13C,missense_variant,p.Val220Leu,ENST00000435852,;FAM13C,missense_variant,p.Val137Leu,ENST00000373867,;FAM13C,upstream_gene_variant,,ENST00000468696,;FAM13C,non_coding_transcript_exon_variant,,ENST00000477101,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507568,;	746	53	69	SUCCESS
ANK3	288	.	GRCh37	10	61847908	61847908	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	68	0	ENST00000280772.2:c.3537C>A	p.Leu1179=	p.L1179=	ENST00000280772	NM_020987.3	1179	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7258.1	3537	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGAGGCC	BUFFER|p.R811*|c.2431C>T|4,BUFFER|p.R310*|c.928C>T|4,BUFFER|p.R1176*|c.3526C>T|5	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	29/44	.	.	.	.	.	.	.	.	.	29/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,synonymous_variant,p.%3D,ENST00000373827,;ANK3,synonymous_variant,p.%3D,ENST00000280772,;ANK3,synonymous_variant,p.%3D,ENST00000355288,;ANK3,synonymous_variant,p.%3D,ENST00000503366,;ANK3,downstream_gene_variant,,ENST00000467420,;ANK3,non_coding_transcript_exon_variant,,ENST00000465749,;ANK3,upstream_gene_variant,,ENST00000508449,;	3729	68	57	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72517955	72517955	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752685263	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	127	0	ENST00000373207.1:c.3092G>T	p.Arg1031Met	p.R1031M	ENST00000373207	NM_080722.3	1031	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS7307.1	3101	MUTECT|MUSE	.	GGTGAGGGCCG	NONE	.	.	hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723	.	.	ENSP00000362304	.	21/22	.	.	.	.	.	.	.	.	rs752685263	21/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	deleterious(0.01)	.	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,missense_variant,p.Arg1034Met,ENST00000373208,;ADAMTS14,missense_variant,p.Arg1031Met,ENST00000373207,;	3101	127	71	SUCCESS
LAYN	143903	.	GRCh37	11	111431016	111431016	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	30	153	0	ENST00000375615.3:c.982T>C	p.Ser328Pro	p.S328P	ENST00000375615	NM_001258390.1	328	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS58178.1	982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTCTTGT	NONE	.	.	hmmpanther:PTHR14789,hmmpanther:PTHR14789:SF2	.	.	ENSP00000364765	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000375615	Transcript	.	.	ENSG00000204381	29471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(0.1)	.	LAYN_HUMAN	LAYN	HGNC	E9PQY8_HUMAN,E9PK64_HUMAN,B4DDS5_HUMAN	.	UPI0000048EB1	SNV	LAYN,missense_variant,p.Ser175Pro,ENST00000436913,;LAYN,missense_variant,p.Ser328Pro,ENST00000375615,;LAYN,missense_variant,p.Ser320Pro,ENST00000375614,;LAYN,3_prime_UTR_variant,,ENST00000525126,;LAYN,3_prime_UTR_variant,,ENST00000533265,;LAYN,downstream_gene_variant,,ENST00000530962,;LAYN,downstream_gene_variant,,ENST00000528924,;LAYN,3_prime_UTR_variant,,ENST00000525866,;	1167	153	157	SUCCESS
CSNK2A3	283106	.	GRCh37	11	11374643	11374643	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs566174971	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	102	0	ENST00000528848.2:c.24G>T	p.Arg8Ser	p.R8S	ENST00000528848	NM_001256686.1	8	agG/agT	0	.	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS59224.1	24	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCTGCT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054,Superfamily_domains:SSF56112	T:0	.	ENSP00000473553	T:0	1/1	.	.	.	.	.	.	.	.	rs566174971	1/1	PASS	ENST00000528848	Transcript	.	T:0.0004	ENSG00000254598	2458	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	T:0.002	tolerated(0.43)	.	CSK23_HUMAN	CSNK2A3	HGNC	.	.	UPI00001F9D63	SNV	CSNK2A3,missense_variant,p.Arg8Ser,ENST00000528848,;GALNT18,intron_variant,,ENST00000227756,;RP11-567I13.1,intron_variant,,ENST00000526867,;	262	102	96	SUCCESS
AMICA1	0	.	GRCh37	11	118071326	118071326	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	81	0	ENST00000356289.5:c.774A>G		p.X258_splice	ENST00000356289	NM_001098526.1	258	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41723.1	774	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTGCTTG	NONE	.	.	hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF22	.	.	ENSP00000348635	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000356289	Transcript	.	.	ENSG00000160593	19084	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JAML1_HUMAN	AMICA1	HGNC	Q496M1_HUMAN,E9PNS8_HUMAN,E9PJJ4_HUMAN	.	UPI000000D82D	SNV	AMICA1,synonymous_variant,p.%3D,ENST00000292067,;AMICA1,synonymous_variant,p.%3D,ENST00000533261,;AMICA1,synonymous_variant,p.%3D,ENST00000526620,;AMICA1,synonymous_variant,p.%3D,ENST00000356289,;AMICA1,synonymous_variant,p.%3D,ENST00000526595,;AMICA1,splice_region_variant,,ENST00000531530,;AMICA1,splice_region_variant,,ENST00000529164,;AMICA1,non_coding_transcript_exon_variant,,ENST00000534294,;	948	81	71	SUCCESS
OR51G1	79324	.	GRCh37	11	4944890	4944890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	66	0	ENST00000321961.2:c.680T>C	p.Val227Ala	p.V227A	ENST00000321961	NM_001005237.1	227	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31366.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCACGGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0.02)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Val227Ala,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	748	66	85	SUCCESS
PTPRCAP	5790	.	GRCh37	11	67203774	67203784	+	frameshift_variant	Frame_Shift_Del	DEL	CCCTGGCAGGG	CCCTGGCAGGG	-	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	CCCTGGCAGGG	CCCTGGCAGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	85	0	ENST00000326294.3:c.41_51del	p.Ala14GlyfsTer43	p.A14Gfs*43	ENST00000326294	NM_005608.2	14	gCCCTGCCAGGG/g	0	.	.	.	.	.	-	ALPG/X	protein_coding	YES	CCDS8163.1	41-51	VARSCANI*|PINDEL	.	CAAGGCCCCTGGCAGGGCCAGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR15312:SF1,hmmpanther:PTHR15312,PIRSF_domain:PIRSF009325	.	.	ENSP00000325589	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326294	Transcript	.	.	ENSG00000213402	9667	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTCA_HUMAN	PTPRCAP	HGNC	.	.	UPI00001328BB	deletion	PTPRCAP,frameshift_variant,p.Ala14GlyfsTer43,ENST00000326294,;RPS6KB2,downstream_gene_variant,,ENST00000524934,;CORO1B,downstream_gene_variant,,ENST00000341356,;CORO1B,downstream_gene_variant,,ENST00000545016,;CORO1B,downstream_gene_variant,,ENST00000393893,;RPS6KB2,downstream_gene_variant,,ENST00000539188,;RPS6KB2,downstream_gene_variant,,ENST00000312629,;CORO1B,downstream_gene_variant,,ENST00000453768,;AP003419.16,upstream_gene_variant,,ENST00000535922,;CORO1B,downstream_gene_variant,,ENST00000539970,;RPS6KB2,downstream_gene_variant,,ENST00000524814,;CORO1B,downstream_gene_variant,,ENST00000539724,;RPS6KB2,downstream_gene_variant,,ENST00000526268,;RPS6KB2,downstream_gene_variant,,ENST00000420069,;RPS6KB2,downstream_gene_variant,,ENST00000525088,;RPS6KB2,downstream_gene_variant,,ENST00000531765,;RPS6KB2,downstream_gene_variant,,ENST00000528964,;RPS6KB2,downstream_gene_variant,,ENST00000525726,;CORO1B,downstream_gene_variant,,ENST00000537042,;RPS6KB2,downstream_gene_variant,,ENST00000530623,;RPS6KB2,downstream_gene_variant,,ENST00000556575,;RPS6KB2,downstream_gene_variant,,ENST00000525996,;	489-499	85	46	SUCCESS
OR2AG2	338755	.	GRCh37	11	6790178	6790178	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751798854	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	35	0	ENST00000338569.2:c.11G>A	p.Arg4Gln	p.R4Q	ENST00000338569	NM_001004490.1	4	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS31413.1	11	MUTECT|MUSE	.	AGTTCCGGAGC	NONE	byFrequency	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF107,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342697	.	1/1	.	.	.	.	.	.	.	.	rs751798854	1/1	PASS	ENST00000338569	Transcript	.	.	ENSG00000188124	15143	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.57)	.	O2AG2_HUMAN	OR2AG2	HGNC	.	.	UPI0000041C10	SNV	OR2AG2,missense_variant,p.Arg4Gln,ENST00000338569,;	109	35	33	SUCCESS
UCP2	7351	.	GRCh37	11	73688931	73688931	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs765670638	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	121	0	ENST00000310473.3:c.337C>G	p.His113Asp	p.H113D	ENST00000310473	NM_003355.2	113	Cat/Gat	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS8228.1	337	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACGCTCAG	NONE	byFrequency	.	hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF167,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000312029	.	4/8	.	.	.	.	.	.	.	.	rs765670638	4/8	PASS	ENST00000310473	Transcript	.	.	ENSG00000175567	12518	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.74)	.	UCP2_HUMAN	UCP2	HGNC	F5H312_HUMAN	.	UPI000003627C	SNV	UCP2,missense_variant,p.His113Asp,ENST00000536983,;UCP2,missense_variant,p.His86Asp,ENST00000544615,;UCP2,missense_variant,p.His113Asp,ENST00000310473,;UCP2,downstream_gene_variant,,ENST00000539764,;UCP2,upstream_gene_variant,,ENST00000545212,;UCP2,downstream_gene_variant,,ENST00000542615,;UCP2,downstream_gene_variant,,ENST00000541027,;UCP2,downstream_gene_variant,,ENST00000539330,;UCP2,upstream_gene_variant,,ENST00000545562,;UCP2,downstream_gene_variant,,ENST00000543714,;	1180	122	52	SUCCESS
NOX4	50507	.	GRCh37	11	89173873	89173873	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	32	255	0	ENST00000263317.4:c.458A>T	p.Lys153Ile	p.K153I	ENST00000263317		153	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS8285.1	458	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTTTTCTA	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF01794	.	.	ENSP00000263317	.	6/18	.	.	.	.	.	.	.	.	COSM1684926	6/18	PASS	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.11)	.	tolerated(0.52)	1	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,missense_variant,p.Lys129Ile,ENST00000535633,;NOX4,missense_variant,p.Lys129Ile,ENST00000527956,;NOX4,missense_variant,p.Lys129Ile,ENST00000542487,;NOX4,missense_variant,p.Lys129Ile,ENST00000343727,;NOX4,missense_variant,p.Lys174Ile,ENST00000413594,;NOX4,missense_variant,p.Lys129Ile,ENST00000532825,;NOX4,missense_variant,p.Lys153Ile,ENST00000534731,;NOX4,missense_variant,p.Lys153Ile,ENST00000263317,;NOX4,missense_variant,p.Lys153Ile,ENST00000525196,;NOX4,missense_variant,p.Lys128Ile,ENST00000528341,;NOX4,missense_variant,p.Lys129Ile,ENST00000424319,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000527626,;NOX4,missense_variant,p.Lys153Ile,ENST00000529343,;NOX4,downstream_gene_variant,,ENST00000525278,;	697	256	230	SUCCESS
SLC5A8	160728	.	GRCh37	12	101577959	101577959	+	synonymous_variant	Silent	SNP	T	T	C	rs367557492	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	14	169	0	ENST00000536262.2:c.1005A>G	p.Pro335=	p.P335=	ENST00000536262	NM_145913.3	335	ccA/ccG	0	C:0	.	.	.	.	C	P	protein_coding	YES	CCDS9080.1	1005	MUTECT|MUSE	.	AGTCCTGGATA	NONE	byCluster	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	C:0.0001	ENSP00000445340	.	8/15	.	.	.	.	.	.	.	.	rs367557492	8/15	PASS	ENST00000536262	Transcript	.	.	ENSG00000256870	19119	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SC5A8_HUMAN	SLC5A8	HGNC	.	.	UPI000004DAF6	SNV	SLC5A8,synonymous_variant,p.%3D,ENST00000536262,;	1564	169	182	SUCCESS
HCAR2	338442	.	GRCh37	12	123187336	123187336	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	63	0	ENST00000328880.5:c.495G>A	p.Lys165=	p.K165=	ENST00000328880	NM_177551.3	165	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS9235.1	495	MUTECT|MUSE|VARSCANS	.	ATCTTCTTCTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000375066	.	1/1	.	.	.	.	.	.	.	.	COSM3811332	1/1	PASS	ENST00000328880	Transcript	.	.	ENSG00000182782	24827	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	HCAR2_HUMAN	HCAR2	HGNC	.	.	UPI000003BCD5	SNV	HCAR2,synonymous_variant,p.%3D,ENST00000328880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;	555	63	74	SUCCESS
ATF7IP	55729	.	GRCh37	12	14578068	14578068	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767910477	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	99	0	ENST00000261168.4:c.1219G>A	p.Val407Ile	p.V407I	ENST00000261168	NM_018179.3	407	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS8663.1	1219	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGTAGAA	NONE	.	.	hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210	.	.	ENSP00000261168	.	2/15	.	.	.	.	.	.	.	.	rs767910477	2/15	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.198)	.	tolerated_low_confidence(0.32)	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,missense_variant,p.Val407Ile,ENST00000261168,;ATF7IP,missense_variant,p.Val407Ile,ENST00000540793,;ATF7IP,missense_variant,p.Val407Ile,ENST00000543189,;ATF7IP,missense_variant,p.Val415Ile,ENST00000544627,;ATF7IP,missense_variant,p.Val407Ile,ENST00000536444,;ATF7IP,missense_variant,p.Val407Ile,ENST00000396279,;ATF7IP,intron_variant,,ENST00000545723,;ATF7IP,intron_variant,,ENST00000538511,;ATF7IP,downstream_gene_variant,,ENST00000545769,;ATF7IP,downstream_gene_variant,,ENST00000542991,;ATF7IP,downstream_gene_variant,,ENST00000535132,;ATF7IP,downstream_gene_variant,,ENST00000536279,;ATF7IP,downstream_gene_variant,,ENST00000542508,;ATF7IP,downstream_gene_variant,,ENST00000542967,;ATF7IP,downstream_gene_variant,,ENST00000534828,;ATF7IP,downstream_gene_variant,,ENST00000542514,;ATF7IP,downstream_gene_variant,,ENST00000539057,;ATF7IP,downstream_gene_variant,,ENST00000541056,;ATF7IP,downstream_gene_variant,,ENST00000428217,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	1372	99	102	SUCCESS
ITFG2	55846	.	GRCh37	12	2932026	2932026	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760299620	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	137	0	ENST00000228799.2:c.1015C>T	p.Arg339Cys	p.R339C	ENST00000228799	NM_018463.3	339	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS8513.1	1015	MUTECT|MUSE	.	ACAACCGCACC	NONE	byFrequency	.	hmmpanther:PTHR16317,Superfamily_domains:SSF50978	.	.	ENSP00000228799	.	10/12	.	.	.	.	.	.	.	.	rs760299620	10/12	PASS	ENST00000228799	Transcript	.	.	ENSG00000111203	30879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0.03)	.	ITFG2_HUMAN	ITFG2	HGNC	H0YFM4_HUMAN,E7EST0_HUMAN	.	UPI00000373A8	SNV	ITFG2,missense_variant,p.Arg162Cys,ENST00000419778,;ITFG2,missense_variant,p.Arg227Cys,ENST00000542548,;ITFG2,missense_variant,p.Arg339Cys,ENST00000228799,;ITFG2,intron_variant,,ENST00000535564,;ITFG2,upstream_gene_variant,,ENST00000540662,;NRIP2,downstream_gene_variant,,ENST00000337508,;ITFG2,missense_variant,p.Arg23Cys,ENST00000534935,;ITFG2,3_prime_UTR_variant,,ENST00000537851,;ITFG2,3_prime_UTR_variant,,ENST00000540929,;ITFG2,non_coding_transcript_exon_variant,,ENST00000537183,;ITFG2,downstream_gene_variant,,ENST00000541659,;ITFG2,upstream_gene_variant,,ENST00000538822,;ITFG2,downstream_gene_variant,,ENST00000543029,;	1154	137	79	SUCCESS
FGD4	121512	.	GRCh37	12	32729344	32729344	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	17	167	0	ENST00000427716.2:c.53G>C	p.Ser18Thr	p.S18T	ENST00000427716	NM_139241.2	18	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS8727.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGTAAGG	NONE	.	.	hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673	.	.	ENSP00000394487	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000427716	Transcript	.	.	ENSG00000139132	19125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated_low_confidence(0.06)	.	FGD4_HUMAN	FGD4	HGNC	J3KSS3_HUMAN,F8W1R0_HUMAN	.	UPI000004CCA6	SNV	FGD4,missense_variant,p.Ser130Thr,ENST00000525053,;FGD4,missense_variant,p.Ser155Thr,ENST00000534526,;FGD4,missense_variant,p.Ser18Thr,ENST00000472289,;FGD4,missense_variant,p.Ser103Thr,ENST00000531134,;FGD4,missense_variant,p.Ser18Thr,ENST00000583694,;FGD4,missense_variant,p.Ser18Thr,ENST00000427716,;FGD4,5_prime_UTR_variant,,ENST00000266482,;FGD4,intron_variant,,ENST00000546442,;FGD4,non_coding_transcript_exon_variant,,ENST00000473513,;FGD4,intron_variant,,ENST00000550091,;FGD4,downstream_gene_variant,,ENST00000497153,;FGD4,downstream_gene_variant,,ENST00000479023,;FGD4,missense_variant,p.Ser18Thr,ENST00000395740,;FGD4,missense_variant,p.Ser18Thr,ENST00000551984,;FGD4,missense_variant,p.Ser18Thr,ENST00000493087,;FGD4,intron_variant,,ENST00000494275,;	477	167	111	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50189083	50189083	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	66	0	ENST00000335999.6:c.2560G>A	p.Gly854Ser	p.G854S	ENST00000335999	NM_001037806.3	854	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS41781.2	2560	MUTECT|MUSE|VARSCANS	.	ACTACCACAGT	NONE	.	.	hmmpanther:PTHR21740	.	.	ENSP00000337998	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	.	tolerated(0.6)	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Gly854Ser,ENST00000335999,;NCKAP5L,missense_variant,p.Gly569Ser,ENST00000433948,;	2762	66	42	SUCCESS
TARBP2	6895	.	GRCh37	12	53895919	53895919	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	118	0	ENST00000266987.2:c.174C>A	p.His58Gln	p.H58Q	ENST00000266987	NM_134323.1	58	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS8861.1	174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACCAGCC	NONE	.	.	HAMAP:MF_03034,PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF61,hmmpanther:PTHR10910,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000266987	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000266987	Transcript	.	.	ENSG00000139546	11569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	TRBP2_HUMAN	TARBP2	HGNC	H3BV98_HUMAN	.	UPI0000071D96	SNV	TARBP2,missense_variant,p.His37Gln,ENST00000394357,;TARBP2,missense_variant,p.His37Gln,ENST00000456234,;TARBP2,missense_variant,p.His29Gln,ENST00000550407,;TARBP2,missense_variant,p.His58Gln,ENST00000266987,;TARBP2,intron_variant,,ENST00000552817,;TARBP2,intron_variant,,ENST00000552857,;MAP3K12,upstream_gene_variant,,ENST00000267079,;MAP3K12,upstream_gene_variant,,ENST00000547488,;RP11-793H13.10,downstream_gene_variant,,ENST00000591834,;NPFF,downstream_gene_variant,,ENST00000609999,;MAP3K12,upstream_gene_variant,,ENST00000548565,;NPFF,downstream_gene_variant,,ENST00000267017,;RP11-793H13.11,upstream_gene_variant,,ENST00000602306,;TARBP2,non_coding_transcript_exon_variant,,ENST00000549028,;MAP3K12,upstream_gene_variant,,ENST00000547151,;TARBP2,missense_variant,p.His37Gln,ENST00000549572,;TARBP2,missense_variant,p.His58Gln,ENST00000550147,;TARBP2,missense_variant,p.His37Gln,ENST00000549679,;TARBP2,missense_variant,p.His37Gln,ENST00000551741,;TARBP2,missense_variant,p.His43Gln,ENST00000548971,;TARBP2,non_coding_transcript_exon_variant,,ENST00000552650,;TARBP2,non_coding_transcript_exon_variant,,ENST00000549610,;TARBP2,non_coding_transcript_exon_variant,,ENST00000546889,;TARBP2,intron_variant,,ENST00000547064,;TARBP2,intron_variant,,ENST00000547388,;TARBP2,upstream_gene_variant,,ENST00000551157,;TARBP2,upstream_gene_variant,,ENST00000547541,;RP11-793H13.10,downstream_gene_variant,,ENST00000448979,;MAP3K12,upstream_gene_variant,,ENST00000551895,;TARBP2,upstream_gene_variant,,ENST00000546763,;	657	118	75	SUCCESS
NXPH4	11247	.	GRCh37	12	57610721	57610721	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs780192230	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	74	0	ENST00000349394.5:c.-32G>T		p.*11*	ENST00000349394	NM_007224.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8933.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGCCCAG	NONE	.	.	.	.	.	ENSP00000333593	.	1/2	.	.	.	.	.	.	.	.	rs780192230	1/2	PASS	ENST00000349394	Transcript	.	.	ENSG00000182379	8078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NXPH4_HUMAN	NXPH4	HGNC	.	.	UPI000004C619	SNV	NXPH4,5_prime_UTR_variant,,ENST00000349394,;LRP1,downstream_gene_variant,,ENST00000243077,;NXPH4,upstream_gene_variant,,ENST00000555154,;NXPH4,5_prime_UTR_variant,,ENST00000556415,;LRP1,downstream_gene_variant,,ENST00000556356,;	144	74	34	SUCCESS
AGAP2	116986	.	GRCh37	12	58131312	58131312	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs561812307	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	107	1	ENST00000547588.1:c.718G>A	p.Ala240Thr	p.A240T	ENST00000547588	NM_001122772.2	240	Gcc/Acc	0	.	A:0	.	A:0	.	T	A/T	protein_coding	YES	CCDS44932.1	718	MUTECT|MUSE	.	GGCGGCGGTGG	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000449241	A:0	1/19	.	.	.	.	.	.	.	.	rs561812307,COSM1196003	1/19	PASS	ENST00000547588	Transcript	.	A:0.0002	ENSG00000135439	16921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0)	A:0.001	tolerated_low_confidence(0.21)	0,1	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,missense_variant,p.Ala104Thr,ENST00000328568,;AGAP2,missense_variant,p.Ala240Thr,ENST00000547588,;AGAP2,intron_variant,,ENST00000257897,;TSPAN31,upstream_gene_variant,,ENST00000550528,;TSPAN31,upstream_gene_variant,,ENST00000553221,;TSPAN31,upstream_gene_variant,,ENST00000547311,;	718	108	56	SUCCESS
SLC35E3	55508	.	GRCh37	12	69145812	69145812	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	94	0	ENST00000398004.2:c.514T>C	p.Trp172Arg	p.W172R	ENST00000398004	NM_018656.2	172	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS41808.1	514	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGTGGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11132:SF47,hmmpanther:PTHR11132,Pfam_domain:PF03151	.	.	ENSP00000381089	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000398004	Transcript	.	.	ENSG00000175782	20864	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	S35E3_HUMAN	SLC35E3	HGNC	.	.	UPI0000048F4D	SNV	SLC35E3,missense_variant,p.Trp172Arg,ENST00000398004,;SLC35E3,upstream_gene_variant,,ENST00000431174,;SLC35E3,splice_region_variant,,ENST00000319429,;SLC35E3,upstream_gene_variant,,ENST00000538043,;	786	94	61	SUCCESS
KCNC2	3747	.	GRCh37	12	75601611	75601611	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	90	0	ENST00000549446.1:c.153C>T	p.Gly51=	p.G51=	ENST00000549446	NM_001260497.1	51	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9007.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCGCCCGC	NONE	.	.	SMART_domains:SM00225,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	.	.	ENSP00000449253	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000549446	Transcript	.	.	ENSG00000166006	6234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNC2_HUMAN	KCNC2	HGNC	.	.	UPI000004DB9B	SNV	KCNC2,synonymous_variant,p.%3D,ENST00000341669,;KCNC2,synonymous_variant,p.%3D,ENST00000393288,;KCNC2,synonymous_variant,p.%3D,ENST00000540018,;KCNC2,synonymous_variant,p.%3D,ENST00000548513,;KCNC2,synonymous_variant,p.%3D,ENST00000550433,;KCNC2,synonymous_variant,p.%3D,ENST00000298972,;KCNC2,synonymous_variant,p.%3D,ENST00000549446,;KCNC2,synonymous_variant,p.%3D,ENST00000350228,;	834	90	44	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85546802	85546802	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs202153512	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	12	128	0	ENST00000393217.2:c.4420A>T	p.Ile1474Phe	p.I1474F	ENST00000393217	NM_001079910.1	1474	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS41816.1	4420	MUTECT|MUSE	.	AAAAGATTCCT	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000376910	.	21/27	.	.	.	.	.	.	.	.	rs202153512	21/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.79)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Ile1474Phe,ENST00000393217,;	4481	128	205	SUCCESS
APAF1	317	.	GRCh37	12	99042536	99042536	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs139951279	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	120	0	ENST00000551964.1:c.271A>G	p.Ile91Val	p.I91V	ENST00000551964	NM_181861.1	91	Att/Gtt	0	T:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS9069.1	271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCATTCCT	NONE	byCluster	.	hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,Gene3D:1.10.533.10,PIRSF_domain:PIRSF037646,Superfamily_domains:SSF47986	.	T:0.0001	ENSP00000448165	.	3/27	.	.	.	.	.	.	.	.	rs139951279	3/27	PASS	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.51)	.	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.Ile91Val,ENST00000357310,;APAF1,missense_variant,p.Ile91Val,ENST00000550527,;APAF1,missense_variant,p.Ile91Val,ENST00000547045,;APAF1,missense_variant,p.Ile91Val,ENST00000339433,;APAF1,missense_variant,p.Ile91Val,ENST00000359972,;APAF1,missense_variant,p.Ile91Val,ENST00000549007,;APAF1,missense_variant,p.Ile91Val,ENST00000552268,;APAF1,missense_variant,p.Ile91Val,ENST00000547743,;APAF1,missense_variant,p.Ile91Val,ENST00000333991,;APAF1,missense_variant,p.Ile91Val,ENST00000551964,;IKBIP,upstream_gene_variant,,ENST00000393042,;IKBIP,upstream_gene_variant,,ENST00000342502,;IKBIP,upstream_gene_variant,,ENST00000420861,;IKBIP,upstream_gene_variant,,ENST00000299157,;	1007	120	93	SUCCESS
NALCN	259232	.	GRCh37	13	101755543	101755543	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773376286	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	9	47	0	ENST00000251127.6:c.3037G>A	p.Gly1013Ser	p.G1013S	ENST00000251127	NM_052867.2	1013	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS9498.1	3037	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCGCTGA	NONE	byFrequency	.	hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000251127	.	26/44	.	.	.	.	.	.	.	.	rs773376286,COSM550672	26/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.98)	.	tolerated(0.06)	0,1	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,missense_variant,p.Gly1013Ser,ENST00000251127,;	3119	47	85	SUCCESS
EFNB2	1948	.	GRCh37	13	107145464	107145464	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	53	0	ENST00000245323.4:c.926G>A	p.Gly309Asp	p.G309D	ENST00000245323	NM_004093.3	309	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9507.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCGCCGCTG	NONE	.	.	hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304	.	.	ENSP00000245323	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,missense_variant,p.Gly309Asp,ENST00000245323,;	1076	53	42	SUCCESS
CCNA1	8900	.	GRCh37	13	37011796	37011796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	17	121	0	ENST00000255465.4:c.328T>C	p.Ser110Pro	p.S110P	ENST00000255465		110	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS9357.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGATCAGAA	NONE	.	.	PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177:SF68,hmmpanther:PTHR10177	.	.	ENSP00000255465	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000255465	Transcript	.	.	ENSG00000133101	1577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.31)	.	CCNA1_HUMAN	CCNA1	HGNC	Q9UNG8_HUMAN,F6KX25_HUMAN	.	UPI000012759F	SNV	CCNA1,missense_variant,p.Ser109Pro,ENST00000418263,;CCNA1,missense_variant,p.Ser110Pro,ENST00000255465,;CCNA1,missense_variant,p.Ser66Pro,ENST00000449823,;CCNA1,missense_variant,p.Ser66Pro,ENST00000440264,;CCNA1,non_coding_transcript_exon_variant,,ENST00000463403,;	592	121	126	SUCCESS
FREM2	341640	.	GRCh37	13	39261494	39261494	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs374997939	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	22	304	0	ENST00000280481.7:c.13G>C	p.Gly5Arg	p.G5R	ENST00000280481	NM_207361.4	5	Ggg/Cgg	0	A:0.0002	.	.	.	.	C	G/R	protein_coding	YES	CCDS31960.1	13	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGGACT	NONE	byCluster	.	Cleavage_site_(Signalp):SignalP-noTM	.	A:0	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	rs374997939	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Gly5Arg,ENST00000280481,;	229	304	212	SUCCESS
COG6	57511	.	GRCh37	13	40256306	40256306	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	309	18	327	0	ENST00000455146.3:c.695-2A>T		p.X232_splice	ENST00000455146	NM_020751.2	232		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9370.1	.	MUTECT|MUSE	.	TTTTCAGGTGA	NONE	.	.	.	.	.	ENSP00000397441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000455146	Transcript	.	.	ENSG00000133103	18621	.	.	HIGH	7/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COG6_HUMAN	COG6	HGNC	B4DG73_HUMAN	.	UPI000019271E	SNV	COG6,splice_acceptor_variant,,ENST00000416691,;COG6,splice_acceptor_variant,,ENST00000455146,;COG6,downstream_gene_variant,,ENST00000422759,;COG6,splice_acceptor_variant,,ENST00000537156,;COG6,splice_acceptor_variant,,ENST00000465775,;COG6,splice_acceptor_variant,,ENST00000356576,;COG6,splice_acceptor_variant,,ENST00000536488,;COG6,downstream_gene_variant,,ENST00000543804,;	.	327	327	SUCCESS
VWA8	23078	.	GRCh37	13	42263626	42263626	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	20	0	ENST00000379310.3:c.3995C>T	p.Pro1332Leu	p.P1332L	ENST00000379310	NM_015058.1	1332	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41881.1	3995	MUTECT|MUSE	.	TATGAGGTATG	NONE	.	.	hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9	.	.	ENSP00000368612	.	34/45	.	.	.	.	.	.	.	.	.	34/45	PASS	ENST00000379310	Transcript	.	.	ENSG00000102763	29071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(0.1)	.	VWA8_HUMAN	VWA8	HGNC	.	.	UPI00001606AC	SNV	VWA8,missense_variant,p.Pro1332Leu,ENST00000379310,;VWA8,non_coding_transcript_exon_variant,,ENST00000478987,;	4064	20	58	SUCCESS
PHF11	51131	.	GRCh37	13	50097317	50097317	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368988100	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	15	202	0	ENST00000378319.3:c.577G>A	p.Glu193Lys	p.E193K	ENST00000378319	NM_001040443.1	193	Gaa/Aaa	0	A:0	.	.	.	.	A	E/K	protein_coding	YES	CCDS31975.1	577	MUTECT|MUSE	.	CACCCGAAACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF4	.	A:0.0001	ENSP00000367570	.	7/10	.	.	.	.	.	.	.	.	rs368988100	7/10	PASS	ENST00000378319	Transcript	.	.	ENSG00000136147	17024	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.54)	.	PHF11_HUMAN	PHF11	HGNC	C9JQV2_HUMAN	.	UPI0000070AF0	SNV	PHF11,missense_variant,p.Glu154Lys,ENST00000488958,;PHF11,missense_variant,p.Glu148Lys,ENST00000426879,;PHF11,missense_variant,p.Glu193Lys,ENST00000378319,;PHF11,missense_variant,p.Glu154Lys,ENST00000442195,;PHF11,missense_variant,p.Glu154Lys,ENST00000357596,;PHF11,missense_variant,p.Glu125Lys,ENST00000496612,;PHF11,non_coding_transcript_exon_variant,,ENST00000488605,;PHF11,non_coding_transcript_exon_variant,,ENST00000495157,;PHF11,non_coding_transcript_exon_variant,,ENST00000460489,;PHF11,downstream_gene_variant,,ENST00000467763,;PHF11,downstream_gene_variant,,ENST00000476953,;PHF11,missense_variant,p.Glu154Lys,ENST00000465045,;PHF11,downstream_gene_variant,,ENST00000482487,;PHF11,upstream_gene_variant,,ENST00000486276,;PHF11,downstream_gene_variant,,ENST00000496623,;	618	202	206	SUCCESS
IGHV1-46	28465	.	GRCh37	14	106967584	106967584	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	19	0	ENST00000390622.2:c.-100G>A		p.*34*	ENST00000390622				0	.	.	.	.	.	T	.	IG_V_gene	YES	.	.	MUTECT|MUSE	.	TAGATCTAAGG	NONE	.	.	.	.	.	ENSP00000375031	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000390622	Transcript	.	.	ENSG00000211962	5554	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	IGHV1-46	HGNC	.	.	UPI0000113ACE	SNV	IGHV1-46,5_prime_UTR_variant,,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000433371,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,;	205	19	20	SUCCESS
RIPK3	11035	.	GRCh37	14	24808688	24808688	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs571257852	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	111	0	ENST00000216274.5:c.136G>A	p.Asp46Asn	p.D46N	ENST00000216274	NM_006871.3	46	Gat/Aat	0	.	T:0	.	T:0	.	T	D/N	protein_coding	YES	CCDS9628.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCGTAGC	NONE	by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF346,hmmpanther:PTHR23257,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	T:0	.	ENSP00000216274	T:0	2/10	.	.	.	.	.	.	.	.	rs571257852,COSM1477512	2/10	PASS	ENST00000216274	Transcript	.	T:0.0002	ENSG00000129465	10021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.661)	T:0.001	tolerated(0.09)	0,1	RIPK3_HUMAN	RIPK3	HGNC	.	.	UPI00000369E2	SNV	RIPK3,missense_variant,p.Asp46Asn,ENST00000216274,;ADCY4,upstream_gene_variant,,ENST00000396747,;RIPK3,upstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000559167,;ADCY4,upstream_gene_variant,,ENST00000310677,;RP11-934B9.3,upstream_gene_variant,,ENST00000555591,;RIPK3,non_coding_transcript_exon_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,missense_variant,p.Asp46Asn,ENST00000554756,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557253,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557662,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;	355	111	72	SUCCESS
GZMB	3002	.	GRCh37	14	25103433	25103433	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs771298498	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	34	0	ENST00000216341.4:c.-67C>G		p.*23*	ENST00000216341				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9633.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGAGAGG	NONE	.	.	.	.	.	ENSP00000216341	.	1/5	.	.	.	.	.	.	.	.	rs771298498	1/5	PASS	ENST00000216341	Transcript	.	.	ENSG00000100453	4709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAB_HUMAN	GZMB	HGNC	.	.	UPI000004E7FD	SNV	GZMB,synonymous_variant,p.%3D,ENST00000382542,;GZMB,5_prime_UTR_variant,,ENST00000382540,;GZMB,5_prime_UTR_variant,,ENST00000216341,;GZMB,upstream_gene_variant,,ENST00000415355,;GZMB,upstream_gene_variant,,ENST00000526004,;RP11-104E19.1,intron_variant,,ENST00000555300,;RP11-104E19.1,intron_variant,,ENST00000557736,;GZMB,upstream_gene_variant,,ENST00000532263,;GZMB,upstream_gene_variant,,ENST00000530830,;GZMB,upstream_gene_variant,,ENST00000554242,;	41	34	37	SUCCESS
LRFN5	145581	.	GRCh37	14	42355944	42355944	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs35910183	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	21	155	0	ENST00000298119.4:c.116A>T	p.Lys39Met	p.K39M	ENST00000298119	NM_152447.3	39	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS9678.1	116	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAAGAAAG	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	rs35910183	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Lys39Met,ENST00000298119,;LRFN5,missense_variant,p.Lys39Met,ENST00000554120,;LRFN5,missense_variant,p.Lys39Met,ENST00000554171,;	1305	155	142	SUCCESS
FAM179B	0	.	GRCh37	14	45535866	45535866	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	75	0	ENST00000361577.3:c.4486G>T	p.Gly1496Cys	p.G1496C	ENST00000361577	NM_015091.2	1496	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS9681.1	4486	MUTECT|MUSE|VARSCANS	.	TAACTGGCTTA	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000355045	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.556)	.	deleterious(0)	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,missense_variant,p.Gly1496Cys,ENST00000361577,;FAM179B,missense_variant,p.Gly1549Cys,ENST00000361462,;FAM179B,3_prime_UTR_variant,,ENST00000382233,;FAM179B,upstream_gene_variant,,ENST00000556823,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;	4700	75	77	SUCCESS
SNURF	8926	.	GRCh37	15	25213176	25213176	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	62	0	ENST00000338327.4:c.208G>C	p.Gly70Arg	p.G70R	ENST00000338327	NM_022804.2	70	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS10016.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGGTGGT	NONE	.	.	hmmpanther:PTHR14508,Pfam_domain:PF07192	.	.	ENSP00000336543	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000338094	Transcript	.	.	ENSG00000273173	11171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	tolerated_low_confidence(0.08)	.	SNURF_HUMAN	SNURF	Uniprot_gn	G3V4N2_HUMAN	.	UPI000006FC5E	SNV	SNURF,missense_variant,p.Gly70Arg,ENST00000338327,;SNURF,missense_variant,p.Gly70Arg,ENST00000338094,;SNURF,missense_variant,p.Gly70Arg,ENST00000577949,;SNRPN,5_prime_UTR_variant,,ENST00000400100,;SNRPN,5_prime_UTR_variant,,ENST00000400098,;SNRPN,5_prime_UTR_variant,,ENST00000584968,;SNRPN,5_prime_UTR_variant,,ENST00000400097,;SNRPN,5_prime_UTR_variant,,ENST00000554227,;SNRPN,5_prime_UTR_variant,,ENST00000390687,;SNRPN,5_prime_UTR_variant,,ENST00000579070,;SNRPN,5_prime_UTR_variant,,ENST00000577565,;SNRPN,5_prime_UTR_variant,,ENST00000346403,;SNRPN,non_coding_transcript_exon_variant,,ENST00000553597,;SNURF,missense_variant,p.Gly70Arg,ENST00000551312,;SNURF,missense_variant,p.Gly70Arg,ENST00000580062,;SNURF,intron_variant,,ENST00000557230,;	269	62	74	SUCCESS
ARHGAP11B	89839	.	GRCh37	15	30926453	30926453	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	283	22	403	1	ENST00000428041.2:c.378G>A	p.Arg126=	p.R126=	ENST00000428041	NM_001039841.1	126	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32185.1	378	MUTECT|MUSE|VARSCANS	.	TTTAGGGAACT	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670,PROSITE_profiles:PS50238	.	.	ENSP00000392760	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000428041	Transcript	.	.	ENSG00000187951	15782	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHGBB_HUMAN	ARHGAP11B	HGNC	.	.	UPI000041D252	SNV	ARHGAP11B,synonymous_variant,p.%3D,ENST00000428041,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000566362,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000564902,;ARHGAP11B,synonymous_variant,p.%3D,ENST00000563110,;ARHGAP11B,upstream_gene_variant,,ENST00000568574,;	523	404	305	SUCCESS
BTBD1	53339	.	GRCh37	15	83686886	83686886	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	10	190	0	ENST00000261721.4:c.1382C>G	p.Ser461Cys	p.S461C	ENST00000261721	NM_001011885.1	461	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS10322.1	1382	MUTECT|MUSE	.	CAGGGGAACTA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF08005	.	.	ENSP00000261721	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261721	Transcript	.	.	ENSG00000064726	1120	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.796)	.	deleterious(0)	.	BTBD1_HUMAN	BTBD1	HGNC	B7Z572_HUMAN	.	UPI00000012BE	SNV	BTBD1,missense_variant,p.Ser461Cys,ENST00000261721,;BTBD1,3_prime_UTR_variant,,ENST00000379403,;RP11-382A20.7,intron_variant,,ENST00000570202,;RP11-382A20.5,intron_variant,,ENST00000566841,;RP11-382A20.6,upstream_gene_variant,,ENST00000568441,;RP11-90B9.2,downstream_gene_variant,,ENST00000560450,;BTBD1,downstream_gene_variant,,ENST00000559652,;BTBD1,downstream_gene_variant,,ENST00000558344,;AC022558.1,downstream_gene_variant,,ENST00000328906,;	1585	190	179	SUCCESS
BNC1	646	.	GRCh37	15	83935660	83935660	+	synonymous_variant	Silent	SNP	T	T	C	rs200222432	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	79	0	ENST00000345382.2:c.363A>G	p.Gln121=	p.Q121=	ENST00000345382	NM_001717.3	121	caA/caG	0	.	G:0	.	G:0	.	C	Q	protein_coding	YES	CCDS10324.1	363	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTTGCTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR15021:SF1,hmmpanther:PTHR15021	G:0	.	ENSP00000307041	G:0.001	3/5	.	.	.	.	.	.	.	.	rs200222432	3/5	PASS	ENST00000345382	Transcript	.	G:0.0002	ENSG00000169594	1081	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	BNC1_HUMAN	BNC1	HGNC	.	.	UPI0000126796	SNV	BNC1,synonymous_variant,p.%3D,ENST00000345382,;BNC1,synonymous_variant,p.%3D,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;	449	79	97	SUCCESS
POLG	5428	.	GRCh37	15	89867412	89867412	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1361580021	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	40	0	ENST00000268124.5:c.1996C>T	p.Gln666Ter	p.Q666*	ENST00000268124	NM_001126131.1	666	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS10350.1	1996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCTTCC	NONE	.	.	PIRSF_domain:PIRSF000797,hmmpanther:PTHR10267:SF0,hmmpanther:PTHR10267	.	.	ENSP00000268124	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000268124	Transcript	1	.	ENSG00000140521	9179	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOG1_HUMAN	POLG	HGNC	E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN	.	UPI000000D9E8	SNV	POLG,stop_gained,p.Gln666Ter,ENST00000268124,;POLG,stop_gained,p.Gln666Ter,ENST00000442287,;POLG,stop_gained,p.Gln122Ter,ENST00000526314,;POLG,synonymous_variant,p.%3D,ENST00000526398,;POLG,non_coding_transcript_exon_variant,,ENST00000533857,;POLG,non_coding_transcript_exon_variant,,ENST00000526573,;POLG,non_coding_transcript_exon_variant,,ENST00000532584,;POLG,upstream_gene_variant,,ENST00000528881,;POLG,upstream_gene_variant,,ENST00000530292,;POLG,downstream_gene_variant,,ENST00000532363,;POLG,upstream_gene_variant,,ENST00000530715,;	2330	40	30	SUCCESS
IDH2	3418	.	GRCh37	15	90628312	90628313	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	74	0	ENST00000330062.3:c.1098dup	p.Asn367GlnfsTer113	p.N367Qfs*113	ENST00000330062	NM_002168.2	366	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS10359.1	1098-1099	VARSCANI*|PINDEL	.	GGGGTTGGTGC	NONE	.	.	hmmpanther:PTHR11822,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,Gene3D:3.40.718.10,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	.	.	ENSP00000331897	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000330062	Transcript	1	.	ENSG00000182054	5383	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IDHP_HUMAN	IDH2	HGNC	H0YLL5_HUMAN,B4DSZ6_HUMAN,B4DFL2_HUMAN	.	UPI000012D1C3	insertion	IDH2,frameshift_variant,p.Asn237GlnfsTer113,ENST00000539790,;IDH2,frameshift_variant,p.Asn367GlnfsTer113,ENST00000330062,;IDH2,frameshift_variant,p.Asn258GlnfsTer82,ENST00000559482,;IDH2,frameshift_variant,p.Asn315GlnfsTer113,ENST00000540499,;ZNF710,downstream_gene_variant,,ENST00000268154,;RP11-617F23.1,upstream_gene_variant,,ENST00000558334,;ZNF710,downstream_gene_variant,,ENST00000560908,;IDH2,3_prime_UTR_variant,,ENST00000560061,;	1212-1213	74	51	SUCCESS
IQGAP1	8826	.	GRCh37	15	90986673	90986673	+	synonymous_variant	Silent	SNP	G	G	A	rs375134287	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	48	163	0	ENST00000268182.5:c.876G>A	p.Thr292=	p.T292=	ENST00000268182	NM_003870.3	292	acG/acA	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS10362.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACGCAAGC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15	.	A:0.0001	ENSP00000268182	.	9/38	.	.	.	.	.	.	.	.	rs375134287	9/38	PASS	ENST00000268182	Transcript	.	.	ENSG00000140575	6110	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQGA1_HUMAN	IQGAP1	HGNC	H0YKA5_HUMAN	.	UPI000012D863	SNV	IQGAP1,synonymous_variant,p.%3D,ENST00000268182,;IQGAP1,intron_variant,,ENST00000560738,;IQGAP1,downstream_gene_variant,,ENST00000560418,;	1000	163	222	SUCCESS
IGF1R	3480	.	GRCh37	15	99434825	99434825	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1398752572	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	599	206	1107	1	ENST00000268035.6:c.912G>A	p.Met304Ile	p.M304I	ENST00000268035	NM_000875.3	304	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10378.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATGCAGGA	NONE	.	.	Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000620,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416	.	.	ENSP00000268035	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(1)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,start_lost,p.Met1?,ENST00000558898,;IGF1R,missense_variant,p.Met304Ile,ENST00000558762,;IGF1R,missense_variant,p.Met183Ile,ENST00000558355,;IGF1R,missense_variant,p.Met304Ile,ENST00000268035,;RP11-654A16.1,intron_variant,,ENST00000558736,;IGF1R,non_coding_transcript_exon_variant,,ENST00000560186,;IGF1R,non_coding_transcript_exon_variant,,ENST00000557938,;IGF1R,non_coding_transcript_exon_variant,,ENST00000557873,;IGF1R,non_coding_transcript_exon_variant,,ENST00000560277,;IGF1R,non_coding_transcript_exon_variant,,ENST00000560432,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;	1523	1108	805	SUCCESS
DNAH3	55567	.	GRCh37	16	21139036	21139036	+	synonymous_variant	Silent	SNP	G	G	A	rs370177232	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	77	0	ENST00000261383.3:c.1180C>T	p.Leu394=	p.L394=	ENST00000261383	NM_017539.1	394	Ctg/Ttg	0	T:0	.	.	.	.	A	L	protein_coding	YES	CCDS10594.1	1180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGCAGT	NONE	byCluster	.	hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	T:0.0001	ENSP00000261383	.	8/62	.	.	.	.	.	.	.	.	rs370177232	8/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,synonymous_variant,p.%3D,ENST00000261383,;DNAH3,synonymous_variant,p.%3D,ENST00000415178,;CTC-508F8.1,intron_variant,,ENST00000575612,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	1180	77	63	SUCCESS
PKD1	5310	.	GRCh37	16	2161188	2161188	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs559786831	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	76	0	ENST00000262304.4:c.3980A>C	p.Asp1327Ala	p.D1327A	ENST00000262304	NM_001009944.2	1327	gAc/gCc	0	.	A:0	.	A:0	.	G	D/A	protein_coding	YES	CCDS32369.1	3980	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTCGAAG	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50093,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Gene3D:2.60.40.670,TIGRFAM_domain:TIGR00864,Pfam_domain:PF00801,SMART_domains:SM00089,Superfamily_domains:SSF49299	A:0	.	ENSP00000262304	A:0	15/46	.	.	.	.	.	.	.	.	rs559786831	15/46	PASS	ENST00000262304	Transcript	.	A:0.0004	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.61)	A:0.002	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Asp1327Ala,ENST00000262304,;PKD1,missense_variant,p.Asp1327Ala,ENST00000423118,;PKD1,intron_variant,,ENST00000483024,;PKD1,intron_variant,,ENST00000488185,;RP11-304L19.4,upstream_gene_variant,,ENST00000568795,;PKD1,intron_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,upstream_gene_variant,,ENST00000473780,;PKD1,intron_variant,,ENST00000568591,;PKD1,intron_variant,,ENST00000565639,;PKD1,intron_variant,,ENST00000415938,;PKD1,intron_variant,,ENST00000483731,;PKD1,intron_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000486339,;PKD1,upstream_gene_variant,,ENST00000496574,;PKD1,downstream_gene_variant,,ENST00000469241,;PKD1,upstream_gene_variant,,ENST00000487932,;PKD1,upstream_gene_variant,,ENST00000564890,;	4189	76	55	SUCCESS
ERN2	10595	.	GRCh37	16	23706194	23706194	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	117	0	ENST00000256797.4:c.2099G>C	p.Gly700Ala	p.G700A	ENST00000256797	NM_033266.3	700	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS32407.1	2099	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCCTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000256797	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.549)	.	deleterious(0)	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Gly600Ala,ENST00000457008,;ERN2,missense_variant,p.Gly700Ala,ENST00000256797,;PLK1,downstream_gene_variant,,ENST00000300093,;ERN2,upstream_gene_variant,,ENST00000562458,;ERN2,3_prime_UTR_variant,,ENST00000562562,;PLK1,downstream_gene_variant,,ENST00000564794,;PLK1,downstream_gene_variant,,ENST00000562272,;	2268	117	63	SUCCESS
CHD9	80205	.	GRCh37	16	53348901	53348901	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764354155	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	5	153	0	ENST00000398510.3:c.7529A>G	p.Glu2510Gly	p.E2510G	ENST00000398510		2510	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS45485.1	7481	MUTECT|MUSE	.	TTTGGAAAAAT	NONE	.	.	Superfamily_domains:SSF160481,SMART_domains:SM00592,Pfam_domain:PF07533	.	.	ENSP00000457466	.	36/39	.	.	.	.	.	.	.	.	rs764354155	36/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Glu2494Gly,ENST00000566029,;CHD9,missense_variant,p.Glu2495Gly,ENST00000447540,;CHD9,missense_variant,p.Glu2494Gly,ENST00000564845,;CHD9,missense_variant,p.Glu2510Gly,ENST00000398510,;CHD9,missense_variant,p.Glu42Gly,ENST00000564641,;CHD9,missense_variant,p.Glu60Gly,ENST00000564600,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	7690	153	131	SUCCESS
FBXL16	146330	.	GRCh37	16	744414	744414	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	14	187	0	ENST00000324361.5:c.1301T>G	p.Leu434Arg	p.L434R	ENST00000324361		434	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS10421.1	1301	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCAGCGGG	NONE	.	.	hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF233,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000380746	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000397621	Transcript	.	.	ENSG00000127585	14150	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.496)	.	tolerated(0.2)	.	FXL16_HUMAN	FBXL16	HGNC	Q8N4J3_HUMAN,B3KR59_HUMAN	.	UPI0000141371	SNV	FBXL16,missense_variant,p.Leu434Arg,ENST00000324361,;FBXL16,missense_variant,p.Leu434Arg,ENST00000397621,;FBXL16,missense_variant,p.Leu222Arg,ENST00000562563,;WDR24,upstream_gene_variant,,ENST00000293883,;WDR24,upstream_gene_variant,,ENST00000248142,;LA16c-313D11.12,downstream_gene_variant,,ENST00000566927,;FBXL16,downstream_gene_variant,,ENST00000562585,;FBXL16,non_coding_transcript_exon_variant,,ENST00000562648,;LA16c-313D11.12,downstream_gene_variant,,ENST00000575305,;	1633	187	105	SUCCESS
ASIC2	40	.	GRCh37	17	32483576	32483576	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	69	0	ENST00000359872.6:c.-25A>C		p.*9*	ENST00000359872	NM_001094.4			0	.	.	.	.	.	G	.	protein_coding	.	CCDS42296.1	.	MUTECT|MUSE|VARSCANS	.	GCAACTGGCTT	NONE	.	.	.	.	.	ENSP00000352934	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000359872	Transcript	.	.	ENSG00000108684	99	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASIC2_HUMAN	ASIC2	HGNC	.	.	UPI00000441F0	SNV	ASIC2,5_prime_UTR_variant,,ENST00000359872,;ASIC2,downstream_gene_variant,,ENST00000583395,;	738	69	50	SUCCESS
GPR179	440435	.	GRCh37	17	36491002	36491002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	22	266	0	ENST00000342292.4:c.1559C>A	p.Ala520Glu	p.A520E	ENST00000342292	NM_001004334.2	520	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS42308.1	1559	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTGCGTGC	NONE	.	.	Pfam_domain:PF00003,hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546,PROSITE_profiles:PS50259	.	.	ENSP00000345060	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.219)	.	deleterious(0.03)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Ala520Glu,ENST00000342292,;GPR179,downstream_gene_variant,,ENST00000494542,;	1580	266	143	SUCCESS
C17orf96	0	.	GRCh37	17	36831102	36831102	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	24	0	ENST00000325814.5:c.-354G>A		p.*118*	ENST00000325814	NM_001130677.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45661.1	.	MUTECT|MUSE	.	AAGGACCCCGG	NONE	.	.	.	.	.	ENSP00000317905	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325814	Transcript	.	.	ENSG00000179294	34493	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CQ096_HUMAN	C17orf96	HGNC	.	.	UPI0000198ACE	SNV	C17orf96,5_prime_UTR_variant,,ENST00000325814,;	86	24	18	SUCCESS
BRIP1	83990	.	GRCh37	17	59763365	59763365	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1555573382	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	30	143	0	ENST00000259008.2:c.2737T>G	p.Ser913Ala	p.S913A	ENST00000259008	NM_032043.2	913	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS11631.1	2737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGAGGTCA	NONE	.	.	hmmpanther:PTHR11472:SF6,hmmpanther:PTHR11472	.	.	ENSP00000259008	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000259008	Transcript	.	.	ENSG00000136492	20473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.75)	.	FANCJ_HUMAN	BRIP1	HGNC	J3KS24_HUMAN	.	UPI000013D01F	SNV	BRIP1,missense_variant,p.Ser913Ala,ENST00000259008,;BRIP1,missense_variant,p.Ser913Ala,ENST00000577598,;	3005	143	171	SUCCESS
EFCAB3	146779	.	GRCh37	17	60464701	60464701	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1380004430	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	91	0	ENST00000305286.3:c.75G>A		p.X25_splice	ENST00000305286	NM_173503.3	25	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45751.1	231	MUTECT|MUSE	.	CTCAGGGATAG	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF158	.	.	ENSP00000403932	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000450662	Transcript	.	.	ENSG00000172421	26379	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFCB3_HUMAN	EFCAB3	HGNC	E5RJB7_HUMAN,E5RHB1_HUMAN	.	UPI0001929531	SNV	EFCAB3,synonymous_variant,p.%3D,ENST00000450662,;EFCAB3,synonymous_variant,p.%3D,ENST00000518576,;EFCAB3,synonymous_variant,p.%3D,ENST00000520404,;EFCAB3,synonymous_variant,p.%3D,ENST00000305286,;RNU7-52P,downstream_gene_variant,,ENST00000516172,;	302	91	67	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62891138	62891138	+	synonymous_variant	Silent	SNP	A	A	G	rs771513010	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	265	31	316	0	ENST00000319651.5:c.2238T>C	p.Thr746=	p.T746=	ENST00000319651		746	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS32708.1	2238	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGAGTTGA	NONE	byFrequency	.	hmmpanther:PTHR23045	.	.	ENSP00000464535	.	3/14	.	.	.	.	.	.	.	.	rs771513010	3/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,synonymous_variant,p.%3D,ENST00000319651,;LRRC37A3,synonymous_variant,p.%3D,ENST00000584306,;LRRC37A3,synonymous_variant,p.%3D,ENST00000580464,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;RP11-927P21.1,intron_variant,,ENST00000577938,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	2769	316	296	SUCCESS
XAF1	54739	.	GRCh37	17	6663763	6663763	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	16	277	1	ENST00000361842.3:c.264C>T	p.Phe88=	p.F88=	ENST00000361842	NM_017523.3	88	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS11080.1	264	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCTGCAA	NONE	.	.	Pfam_domain:PF02176,hmmpanther:PTHR16295,hmmpanther:PTHR16295:SF15,PROSITE_profiles:PS50145	.	.	ENSP00000354822	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000361842	Transcript	.	.	ENSG00000132530	30932	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XAF1_HUMAN	XAF1	HGNC	I3L3D9_HUMAN	.	UPI000020078D	SNV	XAF1,missense_variant,p.Ser121Phe,ENST00000574907,;XAF1,synonymous_variant,p.%3D,ENST00000438512,;XAF1,synonymous_variant,p.%3D,ENST00000441631,;XAF1,synonymous_variant,p.%3D,ENST00000574394,;XAF1,synonymous_variant,p.%3D,ENST00000361842,;XAF1,synonymous_variant,p.%3D,ENST00000346752,;XAF1,downstream_gene_variant,,ENST00000572107,;XAF1,downstream_gene_variant,,ENST00000575267,;XAF1,downstream_gene_variant,,ENST00000576459,;XAF1,synonymous_variant,p.%3D,ENST00000576724,;XAF1,synonymous_variant,p.%3D,ENST00000574962,;XAF1,synonymous_variant,p.%3D,ENST00000572546,;XAF1,synonymous_variant,p.%3D,ENST00000571673,;XAF1,3_prime_UTR_variant,,ENST00000575369,;XAF1,3_prime_UTR_variant,,ENST00000575147,;XAF1,3_prime_UTR_variant,,ENST00000571135,;XAF1,intron_variant,,ENST00000571217,;XAF1,downstream_gene_variant,,ENST00000576341,;XAF1,downstream_gene_variant,,ENST00000573760,;XAF1,downstream_gene_variant,,ENST00000572495,;XAF1,upstream_gene_variant,,ENST00000573518,;	503	278	139	SUCCESS
PFAS	5198	.	GRCh37	17	8168227	8168227	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	106	0	ENST00000314666.6:c.2064G>T	p.Val688=	p.V688=	ENST00000314666	NM_012393.2	688	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11136.1	2064	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGGGAGG	NONE	.	.	Superfamily_domains:SSF55326,TIGRFAM_domain:TIGR01735,Gene3D:3.30.1330.10,hmmpanther:PTHR10099:SF1,hmmpanther:PTHR10099	.	.	ENSP00000313490	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000314666	Transcript	.	.	ENSG00000178921	8863	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PUR4_HUMAN	PFAS	HGNC	Q9BR56_HUMAN,Q6P4B4_HUMAN,J3QSH6_HUMAN,J3QL39_HUMAN,J3KTL4_HUMAN,F5GWT9_HUMAN	.	UPI00001A95E5	SNV	PFAS,synonymous_variant,p.%3D,ENST00000314666,;PFAS,synonymous_variant,p.%3D,ENST00000545834,;PFAS,downstream_gene_variant,,ENST00000583059,;PFAS,upstream_gene_variant,,ENST00000546020,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,upstream_gene_variant,,ENST00000578979,;PFAS,upstream_gene_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,;	2197	106	89	SUCCESS
ASXL3	80816	.	GRCh37	18	31323005	31323005	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	58	0	ENST00000269197.5:c.3193C>G	p.Arg1065Gly	p.R1065G	ENST00000269197	NM_030632.1	1065	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS45847.1	3193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCGGGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Arg1065Gly,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	3193	58	56	SUCCESS
SLC14A2	8170	.	GRCh37	18	43248313	43248313	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	69	0	ENST00000255226.6:c.1908-1G>C		p.X636_splice	ENST00000255226	NM_007163.3	636		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11924.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGTCGG	NONE	.	.	.	.	.	ENSP00000255226	.	.	.	.	.	.	.	.	.	.	COSM3783150	.	PASS	ENST00000255226	Transcript	.	.	ENSG00000132874	10919	.	.	HIGH	14/19	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UT2_HUMAN	SLC14A2	HGNC	.	.	UPI000013CE99	SNV	SLC14A2,splice_acceptor_variant,,ENST00000589658,;SLC14A2,splice_acceptor_variant,,ENST00000255226,;SLC14A2,splice_acceptor_variant,,ENST00000586448,;RP11-116O18.3,downstream_gene_variant,,ENST00000589510,;	.	69	61	SUCCESS
SERPINB7	8710	.	GRCh37	18	61460472	61460472	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	111	0	ENST00000336429.2:c.297G>C	p.Val99=	p.V99=	ENST00000336429	NM_001040147.2	99	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS11988.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGAATGG	NONE	.	.	hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000381101	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000398019	Transcript	.	.	ENSG00000166396	13902	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPB7_HUMAN	SERPINB7	HGNC	Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN	.	UPI0000135DAA	SNV	SERPINB7,synonymous_variant,p.%3D,ENST00000431370,;SERPINB7,synonymous_variant,p.%3D,ENST00000447428,;SERPINB7,synonymous_variant,p.%3D,ENST00000398019,;SERPINB7,synonymous_variant,p.%3D,ENST00000425392,;SERPINB7,synonymous_variant,p.%3D,ENST00000540675,;SERPINB7,synonymous_variant,p.%3D,ENST00000546027,;SERPINB7,synonymous_variant,p.%3D,ENST00000336429,;	622	111	87	SUCCESS
LAMA1	284217	.	GRCh37	18	6949123	6949123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	136	0	ENST00000389658.3:c.8533T>C	p.Tyr2845His	p.Y2845H	ENST00000389658	NM_005559.3	2845	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS32787.1	8533	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTACTGGG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000374309	.	59/63	.	.	.	.	.	.	.	.	.	59/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.147)	.	tolerated(0.06)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Tyr2845His,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,downstream_gene_variant,,ENST00000488089,;	8627	136	106	SUCCESS
ICAM5	7087	.	GRCh37	19	10403481	10403481	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	155	0	ENST00000221980.4:c.1155C>T	p.Ala385=	p.A385=	ENST00000221980	NM_003259.3	385	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12233.1	1155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCACCCT	NONE	.	.	hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000221980	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000221980	Transcript	.	.	ENSG00000105376	5348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,synonymous_variant,p.%3D,ENST00000221980,;ICAM5,downstream_gene_variant,,ENST00000587398,;ICAM4,downstream_gene_variant,,ENST00000393717,;ICAM4,downstream_gene_variant,,ENST00000380770,;ICAM4,downstream_gene_variant,,ENST00000340992,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	1218	155	89	SUCCESS
ICAM5	7087	.	GRCh37	19	10404779	10404779	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs200192686	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	135	0	ENST00000221980.4:c.1775G>C	p.Arg592Pro	p.R592P	ENST00000221980	NM_003259.3	592	cGc/cCc	0	.	A:0	.	A:0.0014	.	C	R/P	protein_coding	YES	CCDS12233.1	1775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGCCTGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	.	ENSP00000221980	A:0	8/11	.	.	.	.	.	.	.	.	rs200192686	8/11	PASS	ENST00000221980	Transcript	.	A:0.0002	ENSG00000105376	5348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	A:0	tolerated(0.19)	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,missense_variant,p.Arg592Pro,ENST00000221980,;ICAM5,downstream_gene_variant,,ENST00000587398,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	1838	135	68	SUCCESS
KEAP1	9817	.	GRCh37	19	10597429	10597429	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	91	0	ENST00000171111.5:c.1774A>G	p.Ser592Gly	p.S592G	ENST00000171111	NM_203500.1	592	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS12239.1	1774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCTCCAGG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.28)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Ser140Gly,ENST00000592478,;KEAP1,missense_variant,p.Ser592Gly,ENST00000393623,;KEAP1,missense_variant,p.Ser592Gly,ENST00000171111,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,3_prime_UTR_variant,,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;	2322	91	63	SUCCESS
DAZAP1	26528	.	GRCh37	19	1434870	1434870	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	122	0	ENST00000233078.4:c.1183C>T	p.Gln395Ter	p.Q395*	ENST00000233078	NM_018959.2	395	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12065.1	1183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCAGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF259	.	.	ENSP00000233078	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000233078	Transcript	.	.	ENSG00000071626	2683	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAZP1_HUMAN	DAZAP1	HGNC	Q5IRM7_HUMAN,B3KS63_HUMAN	.	UPI00000728D6	SNV	DAZAP1,stop_gained,p.Gln395Ter,ENST00000233078,;DAZAP1,stop_gained,p.Gln194Ter,ENST00000587079,;DAZAP1,3_prime_UTR_variant,,ENST00000336761,;DAZAP1,3_prime_UTR_variant,,ENST00000591999,;RPS15,upstream_gene_variant,,ENST00000591804,;RPS15,upstream_gene_variant,,ENST00000593052,;RPS15,upstream_gene_variant,,ENST00000233609,;RPS15,upstream_gene_variant,,ENST00000586686,;DAZAP1,downstream_gene_variant,,ENST00000592453,;RPS15,upstream_gene_variant,,ENST00000589656,;RPS15,upstream_gene_variant,,ENST00000591032,;RPS15,upstream_gene_variant,,ENST00000586656,;RPS15,upstream_gene_variant,,ENST00000586096,;RPS15,upstream_gene_variant,,ENST00000585665,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000585485,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589874,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589484,;RPS15,upstream_gene_variant,,ENST00000592623,;RPS15,upstream_gene_variant,,ENST00000592588,;RPS15,upstream_gene_variant,,ENST00000592700,;	1344	122	67	SUCCESS
CPAMD8	27151	.	GRCh37	19	17086047	17086047	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	181	0	ENST00000443236.1:c.2071T>G	p.Tyr691Asp	p.Y691D	ENST00000443236	NM_015692.2	691	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS42519.1	2071	MUTECT|MUSE|VARSCANS	.	ATCATAATCTT	NONE	.	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412	.	.	ENSP00000402505	.	17/42	.	.	.	.	.	.	.	.	.	17/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Tyr430Asp,ENST00000388925,;CPAMD8,missense_variant,p.Tyr691Asp,ENST00000443236,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,missense_variant,p.Tyr477Asp,ENST00000291440,;CPAMD8,upstream_gene_variant,,ENST00000602159,;	2103	181	98	SUCCESS
SLC7A10	56301	.	GRCh37	19	33703796	33703796	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776698377	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	141	0	ENST00000253188.4:c.469C>A	p.Pro157Thr	p.P157T	ENST00000253188	NM_019849.2	157	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12431.1	469	MUTECT|MUSE|VARSCANS	.	GGTGGGGGGGA	CODON|p.T158fs*12|c.471delC|4	byFrequency	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF73,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000253188	.	3/11	.	.	.	.	.	.	.	.	rs776698377	3/11	PASS	ENST00000253188	Transcript	.	.	ENSG00000130876	11058	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	AAA1_HUMAN	SLC7A10	HGNC	.	.	UPI0000001C3E	SNV	SLC7A10,missense_variant,p.Pro157Thr,ENST00000253188,;CTD-2540B15.6,upstream_gene_variant,,ENST00000590492,;SLC7A10,missense_variant,p.Pro157Thr,ENST00000590036,;SLC7A10,3_prime_UTR_variant,,ENST00000592596,;SLC7A10,3_prime_UTR_variant,,ENST00000587064,;SLC7A10,upstream_gene_variant,,ENST00000590490,;	616	141	100	SUCCESS
PDCD2L	84306	.	GRCh37	19	34916924	34916924	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	71	0	ENST00000246535.3:c.976G>A	p.Val326Ile	p.V326I	ENST00000246535	NM_032346.1	326	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS12438.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGTTTAC	NONE	.	.	hmmpanther:PTHR12298,Pfam_domain:PF04194	.	.	ENSP00000246535	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000246535	Transcript	.	.	ENSG00000126249	28194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.55)	.	PDD2L_HUMAN	PDCD2L	HGNC	U3KQL1_HUMAN	.	UPI0000038A65	SNV	PDCD2L,missense_variant,p.Val24Ile,ENST00000587065,;PDCD2L,missense_variant,p.Val326Ile,ENST00000246535,;UBA2,upstream_gene_variant,,ENST00000439527,;UBA2,upstream_gene_variant,,ENST00000246548,;UBA2,upstream_gene_variant,,ENST00000590048,;CTD-2588C8.8,downstream_gene_variant,,ENST00000592220,;RN7SL154P,upstream_gene_variant,,ENST00000578043,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000589589,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000587385,;PDCD2L,downstream_gene_variant,,ENST00000585821,;UBA2,upstream_gene_variant,,ENST00000607361,;UBA2,upstream_gene_variant,,ENST00000592841,;UBA2,upstream_gene_variant,,ENST00000586313,;	1023	71	63	SUCCESS
CIC	23152	.	GRCh37	19	42793330	42793330	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	46	0	ENST00000575354.2:c.1135-3C>G		p.X379_splice	ENST00000575354	NM_015125.3	379		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12601.1	.	RADIA|MUSE|VARSCANS	.	TCCTGCAGATG	NONE	.	.	.	.	.	ENSP00000458663	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	LOW	7/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,splice_region_variant,,ENST00000575354,;CIC,splice_region_variant,,ENST00000572681,;CIC,splice_region_variant,,ENST00000160740,;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;CIC,downstream_gene_variant,,ENST00000575839,;CIC,upstream_gene_variant,,ENST00000575287,;	.	46	30	SUCCESS
PSG11	5680	.	GRCh37	19	43522945	43522945	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	32	0	ENST00000320078.7:c.686A>G	p.Asp229Gly	p.D229G	ENST00000320078	NM_002785.2	229	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12614.2	686	RADIA|MUTECT|MUSE	.	CTGGGTCACTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF108,PROSITE_profiles:PS50835	.	.	ENSP00000384995	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000401740	Transcript	.	.	ENSG00000243130	9516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	PSG11_HUMAN	PSG11	HGNC	.	.	UPI000004EE8C	SNV	PSG11,missense_variant,p.Asp107Gly,ENST00000306322,;PSG11,missense_variant,p.Asp229Gly,ENST00000401740,;PSG11,missense_variant,p.Asp107Gly,ENST00000403486,;PSG11,missense_variant,p.Asp229Gly,ENST00000320078,;PSG11,intron_variant,,ENST00000598133,;PSG11,non_coding_transcript_exon_variant,,ENST00000595312,;PSG11,upstream_gene_variant,,ENST00000599976,;PSG11,3_prime_UTR_variant,,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000597093,;PSG11,non_coding_transcript_exon_variant,,ENST00000488205,;PSG11,intron_variant,,ENST00000595138,;PSG11,intron_variant,,ENST00000594655,;	790	32	60	SUCCESS
EXOC3L2	90332	.	GRCh37	19	45721458	45721458	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	123	0	ENST00000252482.3:c.660C>T	p.Tyr220=	p.Y220=	ENST00000252482		220	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS12657.1	660	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGTAAGG	NONE	.	.	Pfam_domain:PF06046,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF7	.	.	ENSP00000400713	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000413988	Transcript	.	.	ENSG00000130201	30162	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EX3L2_HUMAN	EXOC3L2	HGNC	.	.	UPI000013CD66	SNV	EXOC3L2,synonymous_variant,p.%3D,ENST00000252482,;EXOC3L2,synonymous_variant,p.%3D,ENST00000413988,;MARK4,intron_variant,,ENST00000587566,;AC006126.3,downstream_gene_variant,,ENST00000591569,;	701	123	90	SUCCESS
PPP1R13L	10848	.	GRCh37	19	45895303	45895303	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	7	198	0	ENST00000360957.5:c.1650C>T	p.Leu550=	p.L550=	ENST00000360957	NM_006663.3	550	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33050.1	1650	MUTECT|MUSE	.	TGGAAGAGGCG	NONE	.	.	hmmpanther:PTHR24164,hmmpanther:PTHR24164:SF4	.	.	ENSP00000403902	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000418234	Transcript	.	.	ENSG00000104881	18838	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IASPP_HUMAN	PPP1R13L	HGNC	K7EPP1_HUMAN,K7EN03_HUMAN	.	UPI00001400F1	SNV	PPP1R13L,synonymous_variant,p.%3D,ENST00000418234,;PPP1R13L,synonymous_variant,p.%3D,ENST00000360957,;PPP1R13L,downstream_gene_variant,,ENST00000593226,;PPP1R13L,non_coding_transcript_exon_variant,,ENST00000587270,;PPP1R13L,downstream_gene_variant,,ENST00000585905,;	1729	198	142	SUCCESS
PPP5C	5536	.	GRCh37	19	46893576	46893576	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	107	0	ENST00000012443.4:c.1473C>T	p.Asn491=	p.N491=	ENST00000012443	NM_006247.3	491	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS12684.1	1473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACACGCT	NONE	.	.	hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300	.	.	ENSP00000012443	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,synonymous_variant,p.%3D,ENST00000391919,;PPP5C,synonymous_variant,p.%3D,ENST00000012443,;AC007193.8,downstream_gene_variant,,ENST00000598616,;PPP5C,non_coding_transcript_exon_variant,,ENST00000527623,;PPP5C,non_coding_transcript_exon_variant,,ENST00000525507,;PPP5C,non_coding_transcript_exon_variant,,ENST00000486994,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,intron_variant,,ENST00000478046,;PPP5C,downstream_gene_variant,,ENST00000492109,;PPP5C,downstream_gene_variant,,ENST00000491003,;PPP5C,downstream_gene_variant,,ENST00000493347,;PPP5C,downstream_gene_variant,,ENST00000467502,;	1576	107	101	SUCCESS
CCDC8	83987	.	GRCh37	19	46916426	46916426	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	25	153	0	ENST00000307522.3:c.-359G>T		p.*120*	ENST00000307522	NM_032040.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12685.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTCTTCGC	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,5_prime_UTR_variant,,ENST00000307522,;	416	153	96	SUCCESS
CCDC8	83987	.	GRCh37	19	46916734	46916734	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	19	317	0	ENST00000307522.3:c.-667C>T		p.*223*	ENST00000307522	NM_032040.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12685.1	.	MUTECT|MUSE|VARSCANS	.	AGTAGGGTCCC	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,5_prime_UTR_variant,,ENST00000307522,;	108	317	202	SUCCESS
CABP5	56344	.	GRCh37	19	48547184	48547184	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	24	230	0	ENST00000293255.2:c.-5C>A		p.*2*	ENST00000293255	NM_019855.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12709.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGGGTGG	NONE	.	.	.	.	.	ENSP00000293255	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000293255	Transcript	.	.	ENSG00000105507	13714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CABP5_HUMAN	CABP5	HGNC	.	.	UPI0000126D6A	SNV	CABP5,5_prime_UTR_variant,,ENST00000293255,;PLA2G4C,downstream_gene_variant,,ENST00000599921,;PLA2G4C,downstream_gene_variant,,ENST00000413144,;PLA2G4C,downstream_gene_variant,,ENST00000354276,;PLA2G4C,downstream_gene_variant,,ENST00000599111,;CABP5,upstream_gene_variant,,ENST00000602032,;PLA2G4C,downstream_gene_variant,,ENST00000594790,;	127	230	204	SUCCESS
CCDC155	0	.	GRCh37	19	49920284	49920284	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs900895519	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	5	100	0	ENST00000447857.3:c.1387G>C	p.Val463Leu	p.V463L	ENST00000447857	NM_144688.4	463	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS46140.1	1387	MUTECT|MUSE	.	TCCCTGTCCCT	NONE	.	.	.	.	.	ENSP00000404220	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000447857	Transcript	.	.	ENSG00000161609	26520	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.11)	.	KASH5_HUMAN	CCDC155	HGNC	M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN	.	UPI000006F690	SNV	CCDC155,missense_variant,p.Val463Leu,ENST00000447857,;CCDC155,missense_variant,p.Val425Leu,ENST00000600570,;CCDC155,downstream_gene_variant,,ENST00000593362,;	1592	100	70	SUCCESS
NAPSB	256236	.	GRCh37	19	50837352	50837352	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	10	0	ENST00000527780.1:n.1048C>G		p.*350*	ENST00000527780				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12793.1	.	RADIA|MUTECT|MUSE	.	ACCCTGAGCAA	NONE	.	4718	.	.	.	ENSP00000434241	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000477616	Transcript	1	.	ENSG00000131398	6235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNC3_HUMAN	KCNC3	HGNC	.	.	UPI000013EA5D	SNV	NR1H2,intron_variant,,ENST00000600355,;NR1H2,intron_variant,,ENST00000542413,;KCNC3,upstream_gene_variant,,ENST00000391818,;KCNC3,upstream_gene_variant,,ENST00000376959,;KCNC3,upstream_gene_variant,,ENST00000474951,;KCNC3,upstream_gene_variant,,ENST00000477616,;NAPSB,non_coding_transcript_exon_variant,,ENST00000527780,;NR1H2,intron_variant,,ENST00000600978,;NAPSB,non_coding_transcript_exon_variant,,ENST00000531692,;NR1H2,intron_variant,,ENST00000593532,;NAPSB,downstream_gene_variant,,ENST00000534789,;NAPSB,downstream_gene_variant,,ENST00000534096,;NAPSB,downstream_gene_variant,,ENST00000525179,;NAPSB,non_coding_transcript_exon_variant,,ENST00000562112,;	.	10	16	SUCCESS
ZNF577	84765	.	GRCh37	19	52375853	52375853	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	50	0	ENST00000301399.5:c.1390A>G	p.Asn464Asp	p.N464D	ENST00000301399	NM_032679.2	464	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS12842.2	1390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATTTGTGA	NONE	.	.	hmmpanther:PTHR24377:SF208,hmmpanther:PTHR24377	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.06)	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,missense_variant,p.Asn405Asp,ENST00000451628,;ZNF577,missense_variant,p.Asn464Asp,ENST00000458390,;ZNF577,missense_variant,p.Asn405Asp,ENST00000420592,;ZNF577,missense_variant,p.Asn464Asp,ENST00000301399,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	1756	50	53	SUCCESS
PPP2R1A	5518	.	GRCh37	19	52716305	52716305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	64	0	ENST00000322088.6:c.749A>T	p.Gln250Leu	p.Q250L	ENST00000322088	NM_014225.5	250	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12849.1	749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCAGGCCG	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Pfam_domain:PF13646,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000324804	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000322088	Transcript	1	.	ENSG00000105568	9302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.13)	.	2AAA_HUMAN	PPP2R1A	HGNC	B4DDF7_HUMAN,B3KQV6_HUMAN,A8K7B7_HUMAN	.	UPI000006EB9C	SNV	PPP2R1A,missense_variant,p.Gln290Leu,ENST00000454220,;PPP2R1A,missense_variant,p.Gln195Leu,ENST00000444322,;PPP2R1A,missense_variant,p.Gln250Leu,ENST00000322088,;PPP2R1A,missense_variant,p.Gln71Leu,ENST00000462990,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,downstream_gene_variant,,ENST00000473455,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473820,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000462047,;PPP2R1A,downstream_gene_variant,,ENST00000490868,;PPP2R1A,downstream_gene_variant,,ENST00000468280,;	807	64	45	SUCCESS
ZNF766	90321	.	GRCh37	19	52793824	52793824	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	131	0	ENST00000439461.1:c.780A>C	p.Arg260=	p.R260=	ENST00000439461	NM_001010851.2	260	cgA/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46163.1	780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGACACGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF5,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000409652	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000439461	Transcript	.	.	ENSG00000196214	28063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN766_HUMAN	ZNF766	HGNC	M0R1P9_HUMAN,M0R139_HUMAN,M0QXI4_HUMAN	.	UPI0000202AF7	SNV	ZNF766,synonymous_variant,p.%3D,ENST00000359102,;ZNF766,synonymous_variant,p.%3D,ENST00000593612,;ZNF766,synonymous_variant,p.%3D,ENST00000439461,;ZNF766,3_prime_UTR_variant,,ENST00000599581,;ZNF766,downstream_gene_variant,,ENST00000593703,;ZNF766,downstream_gene_variant,,ENST00000600821,;ZNF766,downstream_gene_variant,,ENST00000595149,;ZNF766,downstream_gene_variant,,ENST00000595000,;CTD-2525I3.5,intron_variant,,ENST00000594865,;	823	131	104	SUCCESS
ZNF611	81856	.	GRCh37	19	53217352	53217352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	50	0	ENST00000319783.1:c.106G>T	p.Ala36Ser	p.A36S	ENST00000319783	NM_030972.3	36	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12855.1	106	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCCAATG	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24377:SF233,hmmpanther:PTHR24377,PROSITE_profiles:PS50805	.	.	ENSP00000437616	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000543227	Transcript	.	.	ENSG00000213020	28766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.085)	.	deleterious(0.01)	.	ZN611_HUMAN	ZNF611	HGNC	M0QYR0_HUMAN	.	UPI00001406C1	SNV	ZNF611,missense_variant,p.Ala36Ser,ENST00000543227,;ZNF611,missense_variant,p.Ala36Ser,ENST00000319783,;ZNF611,missense_variant,p.Ala36Ser,ENST00000540744,;ZNF611,intron_variant,,ENST00000453741,;ZNF611,intron_variant,,ENST00000596702,;ZNF611,intron_variant,,ENST00000600943,;ZNF611,intron_variant,,ENST00000595798,;ZNF611,intron_variant,,ENST00000602162,;ZNF611,intron_variant,,ENST00000601643,;ZNF611,missense_variant,p.Ala36Ser,ENST00000601249,;ZNF611,missense_variant,p.Ala36Ser,ENST00000595001,;ZNF611,missense_variant,p.Ala36Ser,ENST00000597343,;ZNF611,missense_variant,p.Ala36Ser,ENST00000598639,;ZNF611,missense_variant,p.Ala36Ser,ENST00000598723,;	381	50	72	SUCCESS
ZNF677	342926	.	GRCh37	19	53740801	53740801	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	11	116	0	ENST00000333952.4:c.1179T>C	p.His393=	p.H393=	ENST00000333952		393	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS12861.1	1179	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTATGTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000334394	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,synonymous_variant,p.%3D,ENST00000598513,;ZNF677,synonymous_variant,p.%3D,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000594517,;ZNF677,downstream_gene_variant,,ENST00000598806,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000593539,;ZNF677,downstream_gene_variant,,ENST00000599328,;	1345	116	105	SUCCESS
SSC5D	284297	.	GRCh37	19	56011328	56011328	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	129	0	ENST00000389623.6:c.1851C>A	p.Thr617=	p.T617=	ENST00000389623	NM_001144950.1	617	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46196.1	1851	RADIA|MUTECT|MUSE|VARSCANS	.	ACAACCACGAA	NONE	.	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF21	.	.	ENSP00000374274	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000389623	Transcript	.	.	ENSG00000179954	26641	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRCRL_HUMAN	SSC5D	HGNC	M0QZ17_HUMAN	.	UPI000192952A	SNV	SSC5D,synonymous_variant,p.%3D,ENST00000389623,;SSC5D,synonymous_variant,p.%3D,ENST00000587166,;SSC5D,synonymous_variant,p.%3D,ENST00000589020,;	1874	129	102	SUCCESS
ZNF8	7554	.	GRCh37	19	58806125	58806125	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	111	0	ENST00000608843.1:c.951A>G	p.Glu317=	p.E317=	ENST00000608843	NM_021089.2	317	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS12974.1	951	MUTECT|MUSE	.	GCCGAATGTGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF186,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000476449	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000608843	Transcript	.	.	ENSG00000273439	13154	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF8	HGNC	B4DSF4_HUMAN	.	UPI0000185FEA	SNV	ZNF8,synonymous_variant,p.%3D,ENST00000608843,;ZNF8,synonymous_variant,p.%3D,ENST00000196548,;AC010642.1,3_prime_UTR_variant,,ENST00000591325,;	1081	111	104	SUCCESS
COL11A1	1301	.	GRCh37	1	103363733	103363733	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	364	53	317	1	ENST00000370096.3:c.4250G>T	p.Gly1417Val	p.G1417V	ENST00000370096	NM_001854.3	1417	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS778.1	4250	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTCCCTAG	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000359114	.	57/67	.	.	.	.	.	.	.	.	.	57/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly1301Val,ENST00000512756,;COL11A1,missense_variant,p.Gly1378Val,ENST00000353414,;COL11A1,missense_variant,p.Gly1417Val,ENST00000370096,;COL11A1,missense_variant,p.Gly1429Val,ENST00000358392,;	4563	318	418	SUCCESS
COL11A1	1301	.	GRCh37	1	103444973	103444973	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	11	136	0	ENST00000370096.3:c.2575G>T	p.Gly859Trp	p.G859W	ENST00000370096	NM_001854.3	859	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS778.1	2575	MUTECT|MUSE|VARSCANS	.	AAACCCAGGGA	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	32/67	.	.	.	.	.	.	.	.	.	32/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly743Trp,ENST00000512756,;COL11A1,missense_variant,p.Gly820Trp,ENST00000353414,;COL11A1,missense_variant,p.Gly859Trp,ENST00000370096,;COL11A1,missense_variant,p.Gly871Trp,ENST00000358392,;	2888	136	121	SUCCESS
AMY2A	279	.	GRCh37	1	104161610	104161610	+	synonymous_variant	Silent	SNP	A	A	T	rs753092571	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	48	0	ENST00000414303.2:c.393A>T	p.Gly131=	p.G131=	ENST00000414303	NM_000699.2	131	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS783.1	393	RADIA|SOMATICSNIPER|VARSCANS	.	TGTGGAAGTTA	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000397582	.	3/10	.	.	.	.	.	.	.	.	rs753092571	3/10	PASS	ENST00000414303	Transcript	.	.	ENSG00000243480	477	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMYP_HUMAN	AMY2A	HGNC	.	.	UPI0000000C80	SNV	AMY2A,synonymous_variant,p.%3D,ENST00000423678,;AMY2A,synonymous_variant,p.%3D,ENST00000414303,;AMY2A,upstream_gene_variant,,ENST00000497748,;	457	48	66	SUCCESS
TTLL10-AS1	100506376	.	GRCh37	1	1114832	1114832	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	93	0	ENST00000379317.1:n.104A>G		p.*35*	ENST00000379317				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44036.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACATGGCCA	NONE	.	.	.	.	.	ENSP00000368592	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379290	Transcript	.	.	ENSG00000162571	26693	.	.	MODIFIER	4/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTL10_HUMAN	TTLL10	HGNC	.	.	UPI0000205ADB	SNV	TTLL10,intron_variant,,ENST00000379289,;TTLL10,intron_variant,,ENST00000379290,;TTLL10,upstream_gene_variant,,ENST00000379288,;TTLL10-AS1,non_coding_transcript_exon_variant,,ENST00000379317,;TTLL10,downstream_gene_variant,,ENST00000506177,;TTLL10,upstream_gene_variant,,ENST00000460998,;TTLL10,upstream_gene_variant,,ENST00000514695,;	.	93	67	SUCCESS
HIPK1	204851	.	GRCh37	1	114483828	114483828	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	96	0	ENST00000369558.1:c.823T>G	p.Leu275Val	p.L275V	ENST00000369558		275	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS867.1	823	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTTATAT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058:SF43,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000358571	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,missense_variant,p.Leu275Val,ENST00000369559,;HIPK1,missense_variant,p.Leu275Val,ENST00000369561,;HIPK1,missense_variant,p.Leu275Val,ENST00000369558,;HIPK1,missense_variant,p.Leu275Val,ENST00000369554,;HIPK1,missense_variant,p.Leu275Val,ENST00000369555,;HIPK1,missense_variant,p.Leu275Val,ENST00000426820,;HIPK1,downstream_gene_variant,,ENST00000503968,;HIPK1,downstream_gene_variant,,ENST00000514621,;	1055	96	71	SUCCESS
PTCHD2	0	.	GRCh37	1	11561132	11561132	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	138	0	ENST00000294484.6:c.83T>A	p.Phe28Tyr	p.F28Y	ENST00000294484	NM_020780.1	28	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS41247.1	83	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTTTTTAG	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Phe28Tyr,ENST00000389575,;PTCHD2,missense_variant,p.Phe28Tyr,ENST00000294484,;	221	138	64	SUCCESS
MTHFR	4524	.	GRCh37	1	11861429	11861429	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	152	0	ENST00000376590.3:c.264C>G	p.Pro88=	p.P88=	ENST00000376590	NM_005957.4	88	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS137.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGGGGCC	NONE	.	.	hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF31,TIGRFAM_domain:TIGR00677,Gene3D:3.20.20.220,Pfam_domain:PF02219,Superfamily_domains:SSF51730	.	.	ENSP00000365777	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000376592	Transcript	.	.	ENSG00000177000	7436	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTHR_HUMAN	MTHFR	HGNC	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN	.	UPI0000141098	SNV	MTHFR,synonymous_variant,p.%3D,ENST00000376583,;MTHFR,synonymous_variant,p.%3D,ENST00000418034,;MTHFR,synonymous_variant,p.%3D,ENST00000376592,;MTHFR,synonymous_variant,p.%3D,ENST00000376585,;MTHFR,synonymous_variant,p.%3D,ENST00000376590,;MTHFR,downstream_gene_variant,,ENST00000423400,;CLCN6,upstream_gene_variant,,ENST00000376487,;CLCN6,upstream_gene_variant,,ENST00000346436,;MTHFR,downstream_gene_variant,,ENST00000413656,;CLCN6,upstream_gene_variant,,ENST00000376497,;MTHFR,downstream_gene_variant,,ENST00000376486,;MTHFR,downstream_gene_variant,,ENST00000431243,;CLCN6,upstream_gene_variant,,ENST00000376496,;CLCN6,upstream_gene_variant,,ENST00000312413,;CLCN6,upstream_gene_variant,,ENST00000376490,;CLCN6,upstream_gene_variant,,ENST00000376491,;CLCN6,upstream_gene_variant,,ENST00000376492,;	393	152	81	SUCCESS
PRAMEF22	653606	.	GRCh37	1	13036628	13036628	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	846	47	1074	0	ENST00000376187.1:c.700A>T	p.Arg234Trp	p.R234W	ENST00000376187	NM_001100631.1	234	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS41256.1	700	MUTECT|MUSE	.	AGATGAGGAAT	BUFFER|p.R237C|c.709C>T|3	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF23,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000365358	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000376187	Transcript	.	.	ENSG00000204508	34393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.708)	.	deleterious(0.02)	.	PRA22_HUMAN	PRAMEF22	HGNC	.	.	UPI000066D8B5	SNV	PRAMEF22,missense_variant,p.Arg234Trp,ENST00000376187,;PRAMEF6,intron_variant,,ENST00000376192,;	700	1074	893	SUCCESS
PDZK1	5174	.	GRCh37	1	145748506	145748506	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1553701782	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	100	316	0	ENST00000344770.2:c.379G>A	p.Val127Met	p.V127M	ENST00000344770	NM_002614.4	127	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS924.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGTGCAA	NONE	.	.	hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF6,Superfamily_domains:SSF50156	.	.	ENSP00000342143	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000344770	Transcript	.	.	ENSG00000174827	8821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	tolerated(0.07)	.	NHRF3_HUMAN	PDZK1	HGNC	.	.	UPI000006D202	SNV	PDZK1,missense_variant,p.Val127Met,ENST00000417171,;PDZK1,missense_variant,p.Val127Met,ENST00000344770,;PDZK1,missense_variant,p.Val127Met,ENST00000451928,;PDZK1,missense_variant,p.Val127Met,ENST00000443667,;	452	316	290	SUCCESS
FLG	2312	.	GRCh37	1	152282251	152282251	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	84	0	ENST00000368799.1:c.5111C>A	p.Ser1704Tyr	p.S1704Y	ENST00000368799	NM_002016.1	1704	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS30860.1	5111	RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGATGAA	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	COSM3788715	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.86)	.	.	1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser1704Tyr,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5147	84	75	SUCCESS
LRRC71	149499	.	GRCh37	1	156899496	156899496	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	314	53	459	0	ENST00000337428.7:c.1215A>C	p.Glu405Asp	p.E405D	ENST00000337428	NM_144702.2	405	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44249.1	1215	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAAGATGC	NONE	.	.	hmmpanther:PTHR24106	.	.	ENSP00000336661	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000337428	Transcript	.	.	ENSG00000160838	26556	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.1)	.	LRC71_HUMAN	LRRC71	HGNC	.	.	UPI00000719B9	SNV	LRRC71,missense_variant,p.Glu405Asp,ENST00000337428,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;LRRC71,upstream_gene_variant,,ENST00000472465,;	1369	459	367	SUCCESS
CD1B	910	.	GRCh37	1	158301303	158301303	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	59	0	ENST00000368168.3:c.-90G>C		p.*30*	ENST00000368168	NM_001764.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1176.1	.	MUTECT|MUSE	.	GACTTCTTCTC	NONE	.	.	.	.	.	ENSP00000357150	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,5_prime_UTR_variant,,ENST00000368168,;CD1B,upstream_gene_variant,,ENST00000451207,;	19	59	60	SUCCESS
EPHA2	1969	.	GRCh37	1	16464921	16464921	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	79	0	ENST00000358432.5:c.828C>A	p.Cys276Ter	p.C276*	ENST00000358432	NM_004431.3	276	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS169.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGCAGGC	NONE	.	.	hmmpanther:PTHR24416:SF306,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF57184	.	.	ENSP00000351209	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000358432	Transcript	.	.	ENSG00000142627	3386	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA2_HUMAN	EPHA2	HGNC	Q96HF4_HUMAN,Q8IZL0_HUMAN	.	UPI00000731AB	SNV	EPHA2,stop_gained,p.Cys276Ter,ENST00000358432,;EPHA2,non_coding_transcript_exon_variant,,ENST00000480202,;EPHA2,upstream_gene_variant,,ENST00000462805,;	983	79	49	SUCCESS
CROCCP3	114819	.	GRCh37	1	16809892	16809892	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	59	0	ENST00000263511.4:n.1894A>T		p.*632*	ENST00000263511				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTAGGGC	NONE	.	.	.	.	.	.	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000263511	Transcript	.	.	ENSG00000080947	29405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CROCCP3	HGNC	.	.	.	SNV	CROCCP3,non_coding_transcript_exon_variant,,ENST00000591348,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000263511,;CROCCP3,upstream_gene_variant,,ENST00000591316,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000420820,;	1894	59	35	SUCCESS
NBPF1	55672	.	GRCh37	1	16892274	16892279	+	missense_variant	Missense_Mutation	ONP	ACTGCC	ACTGCC	TTCTCA	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	ACTGCC	ACTGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	30	0	ENST00000430580.2:c.2913_2918delinsTGAGAA	p.Glu971_Val973delinsAspGluLys	p.E971_V973delinsDEK	ENST00000430580	NM_017940.4	971	gaGGCAGTa/gaTGAGAAa	0	.	.	.	.	.	TTTCTCA	EAV/DEK	protein_coding	YES	.	2913-2919	INDELOCATOR*|PINDEL	.	GGCTCTACTGCCTCCAG	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF16,hmmpanther:PTHR14199,Pfam_domain:PF06758	.	.	ENSP00000474456	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000430580	Transcript	.	.	ENSG00000219481	26088	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBPF1	HGNC	S4R3W5_HUMAN,S4R3K2_HUMAN,S4R3H5_HUMAN,Q3BBU8_HUMAN	.	UPI0000E04FDF	substitution	NBPF1,missense_variant,p.GluAlaVal971AspGluLys,ENST00000430580,;NBPF1,downstream_gene_variant,,ENST00000420031,;NBPF1,downstream_gene_variant,,ENST00000287968,;NBPF1,downstream_gene_variant,,ENST00000432949,;NBPF1,3_prime_UTR_variant,,ENST00000392963,;	3801-3807	30	82	SUCCESS
ASTN1	460	.	GRCh37	1	176992547	176992547	+	synonymous_variant	Silent	SNP	G	G	A	rs773583241	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	13	184	0	ENST00000361833.2:c.1431C>T	p.Pro477=	p.P477=	ENST00000361833		477	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1319.1	1431	MUTECT|MUSE	.	GTTTCGGGGTC	BUFFER|p.E478K|c.1432G>A|3	byFrequency	.	SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	7/23	.	.	.	.	.	.	.	.	rs773583241	7/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,synonymous_variant,p.%3D,ENST00000367654,;ASTN1,synonymous_variant,p.%3D,ENST00000424564,;ASTN1,synonymous_variant,p.%3D,ENST00000361833,;ASTN1,synonymous_variant,p.%3D,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	1445	184	154	SUCCESS
RALGPS2	55103	.	GRCh37	1	178871314	178871314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	40	0	ENST00000367635.3:c.1598C>A	p.Pro533His	p.P533H	ENST00000367635	NM_152663.3	533	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1325.1	1598	RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCTGATC	NONE	.	.	PROSITE_profiles:PS50003,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000356607	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000367635	Transcript	.	.	ENSG00000116191	30279	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.709)	.	deleterious(0.03)	.	RGPS2_HUMAN	RALGPS2	HGNC	.	.	UPI000000DBE1	SNV	RALGPS2,missense_variant,p.Pro533His,ENST00000367635,;RALGPS2,missense_variant,p.Pro124His,ENST00000367632,;RALGPS2,missense_variant,p.Pro507His,ENST00000367634,;RALGPS2,non_coding_transcript_exon_variant,,ENST00000478871,;	1936	40	74	SUCCESS
ABL2	27	.	GRCh37	1	179077338	179077338	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1279274624	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	76	0	ENST00000502732.1:c.3064G>A	p.Gly1022Arg	p.G1022R	ENST00000502732	NM_001168237.1	1022	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS30947.1	3064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCTCCTT	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	.	.	ENSP00000427562	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000502732	Transcript	.	.	ENSG00000143322	77	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.601)	.	tolerated_low_confidence(0.27)	.	ABL2_HUMAN	ABL2	HGNC	.	.	UPI0000125140	SNV	ABL2,missense_variant,p.Gly898Arg,ENST00000507173,;ABL2,missense_variant,p.Gly904Arg,ENST00000344730,;ABL2,missense_variant,p.Gly1007Arg,ENST00000512653,;ABL2,missense_variant,p.Gly919Arg,ENST00000511413,;ABL2,missense_variant,p.Gly883Arg,ENST00000504405,;ABL2,missense_variant,p.Gly986Arg,ENST00000408940,;ABL2,missense_variant,p.Gly1022Arg,ENST00000502732,;ABL2,missense_variant,p.Gly1001Arg,ENST00000367623,;ABL2,downstream_gene_variant,,ENST00000392043,;	3268	76	68	SUCCESS
CEP350	9857	.	GRCh37	1	179989802	179989802	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	56	184	0	ENST00000367607.3:c.2893G>A	p.Ala965Thr	p.A965T	ENST00000367607	NM_014810.4	965	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1336.1	2893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAGCCTGT	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	12/38	.	.	.	.	.	.	.	.	.	12/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Ala965Thr,ENST00000367607,;	3311	184	187	SUCCESS
CALML6	163688	.	GRCh37	1	1846688	1846688	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	61	0	ENST00000307786.3:c.-32G>C		p.*11*	ENST00000307786	NM_138705.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30566.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGGCTCT	NONE	.	.	.	.	.	ENSP00000304643	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000307786	Transcript	.	.	ENSG00000169885	24193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALL6_HUMAN	CALML6	HGNC	.	.	UPI000034EC9B	SNV	CALML6,5_prime_UTR_variant,,ENST00000378604,;CALML6,5_prime_UTR_variant,,ENST00000307786,;TMEM52,downstream_gene_variant,,ENST00000310991,;TMEM52,downstream_gene_variant,,ENST00000416272,;TMEM52,downstream_gene_variant,,ENST00000378598,;TMEM52,downstream_gene_variant,,ENST00000378602,;CALML6,upstream_gene_variant,,ENST00000462293,;TMEM52,downstream_gene_variant,,ENST00000602604,;TMEM52,downstream_gene_variant,,ENST00000470931,;CALML6,upstream_gene_variant,,ENST00000482402,;	423	61	30	SUCCESS
NVL	4931	.	GRCh37	1	224482050	224482050	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	74	0	ENST00000281701.6:c.1244C>T	p.Ser415Leu	p.S415L	ENST00000281701	NM_002533.3	415	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1541.1	1244	MUTECT|MUSE|VARSCANS	.	CTAACGAGTCT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00004,Gene3D:3.40.50.300,PROSITE_patterns:PS00674,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55	.	.	ENSP00000281701	.	12/23	.	.	.	.	.	.	.	.	COSM3484180	12/23	PASS	ENST00000281701	Transcript	.	.	ENSG00000143748	8070	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.871)	.	deleterious(0)	1	NVL_HUMAN	NVL	HGNC	Q96PA2_HUMAN	.	UPI0000073F3E	SNV	NVL,missense_variant,p.Ser139Leu,ENST00000482491,;NVL,missense_variant,p.Ser309Leu,ENST00000361463,;NVL,missense_variant,p.Ser226Leu,ENST00000340871,;NVL,missense_variant,p.Ser309Leu,ENST00000391875,;NVL,missense_variant,p.Ser415Leu,ENST00000281701,;NVL,missense_variant,p.Ser298Leu,ENST00000469968,;NVL,missense_variant,p.Ser324Leu,ENST00000469075,;NVL,3_prime_UTR_variant,,ENST00000467882,;NVL,upstream_gene_variant,,ENST00000462893,;RP11-365O16.5,upstream_gene_variant,,ENST00000441469,;	1504	74	63	SUCCESS
DISC1	27185	.	GRCh37	1	231885681	231885681	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	22	115	0	ENST00000439617.2:c.1127T>C	p.Leu376Ser	p.L376S	ENST00000439617	NM_001164540.1	376	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS53482.1	1127	RADIA|MUTECT|MUSE|VARSCANS	.	GACGTTACAAC	NONE	.	.	hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000355593	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,missense_variant,p.Leu376Ser,ENST00000539444,;DISC1,missense_variant,p.Leu376Ser,ENST00000439617,;DISC1,missense_variant,p.Leu26Ser,ENST00000602873,;DISC1,missense_variant,p.Leu376Ser,ENST00000535983,;DISC1,missense_variant,p.Leu376Ser,ENST00000602281,;DISC1,missense_variant,p.Leu376Ser,ENST00000366633,;DISC1,missense_variant,p.Leu376Ser,ENST00000366636,;DISC1,missense_variant,p.Leu376Ser,ENST00000537876,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,missense_variant,p.Leu376Ser,ENST00000295051,;DISC1,missense_variant,p.Tyr353His,ENST00000602822,;DISC1,missense_variant,p.Tyr353His,ENST00000602713,;DISC1,missense_variant,p.Tyr353His,ENST00000602700,;DISC1,missense_variant,p.Leu376Ser,ENST00000535944,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;DISC1,intron_variant,,ENST00000366632,;	1180	115	210	SUCCESS
ARID4B	51742	.	GRCh37	1	235345805	235345805	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1450294506	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	96	0	ENST00000264183.3:c.2429A>G	p.Asp810Gly	p.D810G	ENST00000264183	NM_016374.5	810	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS31061.1	2429	MUTECT|MUSE	.	TTGTGTCCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13964:SF21,hmmpanther:PTHR13964	.	.	ENSP00000264183	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000264183	Transcript	.	.	ENSG00000054267	15550	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.248)	.	tolerated_low_confidence(0.34)	.	ARI4B_HUMAN	ARID4B	HGNC	.	.	UPI00000437FE	SNV	ARID4B,missense_variant,p.Asp210Gly,ENST00000444620,;ARID4B,missense_variant,p.Asp810Gly,ENST00000366603,;ARID4B,missense_variant,p.Asp724Gly,ENST00000349213,;ARID4B,missense_variant,p.Asp810Gly,ENST00000264183,;ARID4B,upstream_gene_variant,,ENST00000494543,;ARID4B,missense_variant,p.Asp124Gly,ENST00000474953,;ARID4B,missense_variant,p.Asp810Gly,ENST00000421364,;ARID4B,non_coding_transcript_exon_variant,,ENST00000471257,;ARID4B,non_coding_transcript_exon_variant,,ENST00000491632,;	2927	96	76	SUCCESS
HEATR1	55127	.	GRCh37	1	236757400	236757400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	63	0	ENST00000366582.3:c.1105G>A	p.Gly369Arg	p.G369R	ENST00000366582	NM_018072.5	369	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS31066.1	1105	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCTTCAG	NONE	.	.	hmmpanther:PTHR13457:SF1,hmmpanther:PTHR13457	.	.	ENSP00000355541	.	9/45	.	.	.	.	.	.	.	.	.	9/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.022)	.	tolerated(0.47)	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	SNV	HEATR1,missense_variant,p.Gly369Arg,ENST00000366581,;HEATR1,missense_variant,p.Gly369Arg,ENST00000366582,;HEATR1,downstream_gene_variant,,ENST00000483073,;	1220	63	76	SUCCESS
ACTN2	88	.	GRCh37	1	236911058	236911058	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	18	180	0	ENST00000366578.4:c.1498A>G	p.Arg500Gly	p.R500G	ENST00000366578	NM_001278344.1	500	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS1613.1	1498	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGAGGAGA	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000355537	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,missense_variant,p.Arg500Gly,ENST00000542672,;ACTN2,missense_variant,p.Arg500Gly,ENST00000366578,;ACTN2,5_prime_UTR_variant,,ENST00000546208,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492101,;ACTN2,downstream_gene_variant,,ENST00000492634,;ACTN2,downstream_gene_variant,,ENST00000494762,;	1664	180	189	SUCCESS
PANK4	55229	.	GRCh37	1	2441560	2441560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	21	205	0	ENST00000378466.3:c.1975G>A	p.Asp659Asn	p.D659N	ENST00000378466	NM_018216.1	659	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS42.1	1975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCGTTCA	NONE	.	.	hmmpanther:PTHR12280,Pfam_domain:PF01937,PIRSF_domain:PIRSF036939,Superfamily_domains:SSF111321	.	.	ENSP00000367727	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000378466	Transcript	.	.	ENSG00000157881	19366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PANK4_HUMAN	PANK4	HGNC	.	.	UPI000000DA54	SNV	PANK4,missense_variant,p.Asp620Asn,ENST00000435556,;PANK4,missense_variant,p.Asp659Asn,ENST00000378466,;PLCH2,downstream_gene_variant,,ENST00000419816,;PLCH2,downstream_gene_variant,,ENST00000278878,;PLCH2,downstream_gene_variant,,ENST00000449969,;PLCH2,downstream_gene_variant,,ENST00000378486,;PLCH2,downstream_gene_variant,,ENST00000378488,;PANK4,3_prime_UTR_variant,,ENST00000502512,;PANK4,3_prime_UTR_variant,,ENST00000505228,;PLCH2,downstream_gene_variant,,ENST00000343889,;PANK4,downstream_gene_variant,,ENST00000468002,;PANK4,downstream_gene_variant,,ENST00000487804,;PLCH2,downstream_gene_variant,,ENST00000462379,;PANK4,downstream_gene_variant,,ENST00000471361,;PANK4,downstream_gene_variant,,ENST00000515423,;PLCH2,downstream_gene_variant,,ENST00000473964,;	1988	205	109	SUCCESS
AHCTF1	25909	.	GRCh37	1	247016531	247016531	+	synonymous_variant	Silent	SNP	C	C	T	rs896943331	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	297	35	314	0	ENST00000326225.3:c.4452G>A	p.Glu1484=	p.E1484=	ENST00000326225	NM_015446.4	1484	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS1629.2	4452	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGCTCAGA	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	32/36	.	.	.	.	.	.	.	.	.	32/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,synonymous_variant,p.%3D,ENST00000391829,;AHCTF1,synonymous_variant,p.%3D,ENST00000366508,;AHCTF1,synonymous_variant,p.%3D,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,upstream_gene_variant,,ENST00000498601,;	4549	314	332	SUCCESS
ZNF124	7678	.	GRCh37	1	247320522	247320522	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	22	90	0	ENST00000543802.2:c.402C>G	p.Pro134=	p.P134=	ENST00000543802		134	ccC/ccG	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31089.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGGGAAT	NONE	.	.	.	.	.	ENSP00000340749	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340684	Transcript	.	.	ENSG00000196418	12907	.	.	LOW	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN124_HUMAN	ZNF124	HGNC	.	.	UPI00001A818D	SNV	ZNF124,synonymous_variant,p.%3D,ENST00000543802,;ZNF124,splice_region_variant,,ENST00000340684,;ZNF124,intron_variant,,ENST00000472531,;ZNF124,intron_variant,,ENST00000491356,;ZNF124,splice_region_variant,,ENST00000491848,;	.	90	114	SUCCESS
OR2T6	254879	.	GRCh37	1	248550917	248550917	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1448610730	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	48	0	ENST00000355728.2:c.8A>G	p.Glu3Gly	p.E3G	ENST00000355728	NM_001005471.1	3	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31114.1	8	MUTECT|MUSE	.	GAATGAAAACA	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.36)	.	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,missense_variant,p.Glu3Gly,ENST00000355728,;	8	48	89	SUCCESS
RCAN3	11123	.	GRCh37	1	24859597	24859597	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	76	0	ENST00000374395.4:c.394G>T	p.Asp132Tyr	p.D132Y	ENST00000374395	NM_001251984.1	132	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS254.1	394	MUTECT|MUSE|VARSCANS	.	TGCGGGACAAG	NONE	.	.	hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF6,Pfam_domain:PF04847,Superfamily_domains:SSF54928	.	.	ENSP00000363516	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000374395	Transcript	.	.	ENSG00000117602	3042	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.649)	.	deleterious(0)	.	RCAN3_HUMAN	RCAN3	HGNC	Q5TGC7_HUMAN,G1FLF0_HUMAN,E5L4P7_HUMAN,E5L4P0_HUMAN,E3VWE2_HUMAN,C8CJH0_HUMAN	.	UPI0000001C4A	SNV	RCAN3,missense_variant,p.Asp132Tyr,ENST00000374395,;RCAN3,missense_variant,p.Asp74Tyr,ENST00000538532,;RCAN3,splice_region_variant,,ENST00000436717,;RCAN3,intron_variant,,ENST00000412742,;RCAN3,intron_variant,,ENST00000374393,;RN7SL857P,upstream_gene_variant,,ENST00000580228,;RCAN3,upstream_gene_variant,,ENST00000482807,;	707	76	43	SUCCESS
KPNA6	23633	.	GRCh37	1	32635482	32635482	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	38	0	ENST00000373625.3:c.1245-1G>A		p.X415_splice	ENST00000373625	NM_012316.4	415		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS352.1	.	MUTECT|MUSE	.	CCCTAGGTACC	NONE	.	.	.	.	.	ENSP00000362728	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373625	Transcript	.	.	ENSG00000025800	6399	.	.	HIGH	12/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMA7_HUMAN	KPNA6	HGNC	G1UI19_HUMAN,F5H4G7_HUMAN	.	UPI000006D3B6	SNV	KPNA6,splice_acceptor_variant,,ENST00000545542,;KPNA6,splice_acceptor_variant,,ENST00000537234,;KPNA6,splice_acceptor_variant,,ENST00000373625,;KPNA6,downstream_gene_variant,,ENST00000446515,;RP4-622L5.2,upstream_gene_variant,,ENST00000515055,;KPNA6,splice_acceptor_variant,,ENST00000471599,;	.	38	22	SUCCESS
DFFB	1677	.	GRCh37	1	3786308	3786308	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	18	230	0	ENST00000378209.3:c.650T>C	p.Leu217Pro	p.L217P	ENST00000378209	NM_004402.2	217	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS52.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCTCTGCA	NONE	.	.	Superfamily_domains:SSF54060,Pfam_domain:PF09230,hmmpanther:PTHR13067	.	.	ENSP00000367454	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000378209	Transcript	.	.	ENSG00000169598	2773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DFFB_HUMAN	DFFB	HGNC	Q96P72_HUMAN	.	UPI000006230F	SNV	DFFB,missense_variant,p.Leu217Pro,ENST00000378209,;DFFB,missense_variant,p.Leu217Pro,ENST00000338895,;DFFB,downstream_gene_variant,,ENST00000378212,;DFFB,missense_variant,p.Leu217Pro,ENST00000491998,;DFFB,3_prime_UTR_variant,,ENST00000477548,;DFFB,3_prime_UTR_variant,,ENST00000475969,;DFFB,3_prime_UTR_variant,,ENST00000378206,;DFFB,3_prime_UTR_variant,,ENST00000468793,;DFFB,3_prime_UTR_variant,,ENST00000339350,;DFFB,non_coding_transcript_exon_variant,,ENST00000481945,;	973	231	115	SUCCESS
TCTEX1D4	0	.	GRCh37	1	45272211	45272211	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	46	0	ENST00000372200.1:c.130G>C	p.Gly44Arg	p.G44R	ENST00000372200	NM_001013632.2	44	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS30699.1	130	MUTECT|MUSE	.	TGGACCTGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21255,hmmpanther:PTHR21255:SF18	.	.	ENSP00000361274	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372200	Transcript	.	.	ENSG00000188396	32315	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.893)	.	tolerated(0.13)	.	TC1D4_HUMAN	TCTEX1D4	HGNC	.	.	UPI0000199BA2	SNV	TCTEX1D4,missense_variant,p.Gly44Arg,ENST00000372200,;TCTEX1D4,missense_variant,p.Gly44Arg,ENST00000339355,;BTBD19,upstream_gene_variant,,ENST00000450269,;BTBD19,upstream_gene_variant,,ENST00000409335,;BTBD19,upstream_gene_variant,,ENST00000453418,;PLK3,downstream_gene_variant,,ENST00000372201,;PLK3,downstream_gene_variant,,ENST00000476731,;PLK3,downstream_gene_variant,,ENST00000493100,;PLK3,downstream_gene_variant,,ENST00000492398,;PLK3,downstream_gene_variant,,ENST00000465443,;PLK3,downstream_gene_variant,,ENST00000461769,;PLK3,downstream_gene_variant,,ENST00000461358,;BTBD19,upstream_gene_variant,,ENST00000485668,;BTBD19,upstream_gene_variant,,ENST00000439563,;BTBD19,upstream_gene_variant,,ENST00000482715,;BTBD19,upstream_gene_variant,,ENST00000475105,;	639	46	20	SUCCESS
PRPF38A	84950	.	GRCh37	1	52871471	52871471	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	7	125	0	ENST00000257181.9:c.250A>T	p.Lys84Ter	p.K84*	ENST00000257181	NM_032864.3	84	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS567.1	250	MUTECT|MUSE	.	CCGAGAAGGAT	NONE	.	.	hmmpanther:PTHR23142,Pfam_domain:PF03371	.	.	ENSP00000257181	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000257181	Transcript	.	.	ENSG00000134748	25930	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PR38A_HUMAN	PRPF38A	HGNC	.	.	UPI000006D9C2	SNV	PRPF38A,stop_gained,p.Lys84Ter,ENST00000257181,;ZCCHC11,downstream_gene_variant,,ENST00000528457,;ORC1,upstream_gene_variant,,ENST00000371566,;ORC1,upstream_gene_variant,,ENST00000371568,;PRPF38A,non_coding_transcript_exon_variant,,ENST00000487160,;PRPF38A,intron_variant,,ENST00000474048,;ZCCHC11,downstream_gene_variant,,ENST00000527941,;	436	125	100	SUCCESS
ESPN	83715	.	GRCh37	1	6488312	6488312	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	22	187	0	ENST00000377828.1:c.321C>T	p.Val107=	p.V107=	ENST00000377828	NM_031475.2	107	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS70.1	321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCTTGCA	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF14,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000367059	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000377828	Transcript	.	.	ENSG00000187017	13281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESPN_HUMAN	ESPN	HGNC	.	.	UPI000013D2B6	SNV	ESPN,synonymous_variant,p.%3D,ENST00000377828,;HES2,upstream_gene_variant,,ENST00000377837,;MIR4252,downstream_gene_variant,,ENST00000585139,;	489	187	96	SUCCESS
DNAJC6	9829	.	GRCh37	1	65830467	65830467	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs369490833	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	41	0	ENST00000395325.3:c.172A>T	p.Ser58Cys	p.S58C	ENST00000395325	NM_014787.3	58	Agc/Tgc	0	G:0.0002	.	.	.	.	T	S/C	protein_coding	YES	CCDS58004.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAGGTAC	NONE	.	.	PROSITE_profiles:PS51181,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,Gene3D:3.90.190.10	.	G:0	ENSP00000360108	.	2/19	.	.	.	.	.	.	.	.	rs369490833	2/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,missense_variant,p.Ser115Cys,ENST00000371069,;DNAJC6,missense_variant,p.Ser58Cys,ENST00000395325,;DNAJC6,missense_variant,p.Ser45Cys,ENST00000263441,;DNAJC6,missense_variant,p.Ser89Cys,ENST00000494710,;DNAJC6,splice_region_variant,,ENST00000463018,;DNAJC6,upstream_gene_variant,,ENST00000472787,;DNAJC6,downstream_gene_variant,,ENST00000483402,;	544	41	86	SUCCESS
SERBP1	26135	.	GRCh37	1	67896027	67896027	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	95	0	ENST00000370995.2:c.-44G>T		p.*15*	ENST00000370995				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30746.1	.	MUTECT|MUSE	.	CGGGCCGCGCC	NONE	.	.	.	.	.	ENSP00000360034	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000370995	Transcript	.	.	ENSG00000142864	17860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAIRB_HUMAN	SERBP1	HGNC	.	.	UPI0000036970	SNV	SERBP1,5_prime_UTR_variant,,ENST00000370994,;SERBP1,5_prime_UTR_variant,,ENST00000361219,;SERBP1,5_prime_UTR_variant,,ENST00000370990,;SERBP1,5_prime_UTR_variant,,ENST00000370995,;SERBP1,upstream_gene_variant,,ENST00000490406,;	43	95	57	SUCCESS
RPE65	6121	.	GRCh37	1	68910485	68910485	+	synonymous_variant	Silent	SNP	T	T	C	rs1356737522	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	130	0	ENST00000262340.5:c.327A>G	p.Pro109=	p.P109=	ENST00000262340	NM_000329.2	109	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS643.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTGGGAA	NONE	.	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7,Pfam_domain:PF03055	.	.	ENSP00000262340	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000262340	Transcript	.	.	ENSG00000116745	10294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPE65_HUMAN	RPE65	HGNC	Q2EKB8_HUMAN,C7FEP0_HUMAN	.	UPI000004346C	SNV	RPE65,synonymous_variant,p.%3D,ENST00000262340,;	381	130	102	SUCCESS
IFI44L	10964	.	GRCh37	1	79102796	79102796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	73	0	ENST00000370751.5:c.956T>C	p.Val319Ala	p.V319A	ENST00000370751	NM_006820.2	319	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS687.2	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTGGCTT	NONE	.	.	hmmpanther:PTHR14241,hmmpanther:PTHR14241:SF2,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000359787	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000370751	Transcript	.	.	ENSG00000137959	17817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.11)	.	IF44L_HUMAN	IFI44L	HGNC	C9JPJ0_HUMAN,B4E019_HUMAN	.	UPI0000374C64	SNV	IFI44L,missense_variant,p.Val61Ala,ENST00000342282,;IFI44L,missense_variant,p.Val319Ala,ENST00000370751,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476521,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476876,;IFI44L,non_coding_transcript_exon_variant,,ENST00000459784,;IFI44L,non_coding_transcript_exon_variant,,ENST00000486882,;IFI44L,non_coding_transcript_exon_variant,,ENST00000494910,;IFI44L,downstream_gene_variant,,ENST00000474002,;	1135	73	82	SUCCESS
CLCA1	1179	.	GRCh37	1	86959168	86959168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	11	79	0	ENST00000234701.3:c.1566G>T	p.Trp522Cys	p.W522C	ENST00000234701		522	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS709.1	1566	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGACAAT	NONE	.	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868	.	.	ENSP00000234701	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Trp522Cys,ENST00000234701,;CLCA1,missense_variant,p.Trp522Cys,ENST00000394711,;	1917	79	96	SUCCESS
ZNF831	128611	.	GRCh37	20	57769710	57769710	+	synonymous_variant	Silent	SNP	T	T	C	rs767329680	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	155	0	ENST00000371030.2:c.3636T>C	p.Pro1212=	p.P1212=	ENST00000371030	NM_178457.2	1212	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS42894.1	3636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTGGTAG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	rs767329680	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	3636	155	100	SUCCESS
LAMP5	24141	.	GRCh37	20	9496915	9496915	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs770904140	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	118	0	ENST00000246070.2:c.382A>C	p.Met128Leu	p.M128L	ENST00000246070	NM_012261.3	128	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS13106.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACATGTCC	NONE	.	.	hmmpanther:PTHR11506,Pfam_domain:PF01299	.	.	ENSP00000246070	.	4/6	.	.	.	.	.	.	.	.	rs770904140	4/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.25)	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,missense_variant,p.Met128Leu,ENST00000246070,;LAMP5,missense_variant,p.Met84Leu,ENST00000427562,;RP5-1119D9.4,upstream_gene_variant,,ENST00000443469,;	874	118	84	SUCCESS
CLTCL1	8218	.	GRCh37	22	19187289	19187289	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201881044	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	76	0	ENST00000427926.1:c.3829G>A	p.Val1277Ile	p.V1277I	ENST00000427926		1277	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS46662.1	3829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGACGATGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF00637,Gene3D:1.25.40.10,SMART_domains:SM00299,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371	.	T:0.0006	ENSP00000445677	.	24/33	.	.	.	.	.	.	.	.	rs201881044	24/33	common_in_exac	ENST00000263200	Transcript	.	.	ENSG00000070371	2093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(1)	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,missense_variant,p.Val1277Ile,ENST00000427926,;CLTCL1,missense_variant,p.Val1277Ile,ENST00000263200,;CLTCL1,missense_variant,p.Val1277Ile,ENST00000353891,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000536806,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000442042,;CLTCL1,missense_variant,p.Arg1256His,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;	3902	76	40	SUCCESS
HIRA	7290	.	GRCh37	22	19371188	19371188	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	68	0	ENST00000263208.5:c.1370G>C	p.Gly457Ala	p.G457A	ENST00000263208	NM_003325.3	457	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS13759.1	1370	MUTECT|MUSE	.	TCCGGCCATCT	NONE	.	.	hmmpanther:PTHR13831:SF0,hmmpanther:PTHR13831,Pfam_domain:PF09453	.	.	ENSP00000263208	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000263208	Transcript	.	.	ENSG00000100084	4916	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HIRA_HUMAN	HIRA	HGNC	F5H4M2_HUMAN	.	UPI0000074373	SNV	HIRA,missense_variant,p.Gly413Ala,ENST00000541063,;HIRA,missense_variant,p.Gly457Ala,ENST00000340170,;HIRA,missense_variant,p.Gly457Ala,ENST00000263208,;HIRA,missense_variant,p.Gly413Ala,ENST00000546308,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;	1627	68	51	SUCCESS
PI4KA	5297	.	GRCh37	22	21098986	21098986	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	62	0	ENST00000255882.6:c.3386C>T	p.Pro1129Leu	p.P1129L	ENST00000255882	NM_058004.3	1129	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33603.2	3386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCGGGCGC	NONE	.	.	hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15	.	.	ENSP00000255882	.	30/55	.	.	.	.	.	.	.	.	.	30/55	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.754)	.	deleterious(0)	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,missense_variant,p.Pro1071Leu,ENST00000572273,;PI4KA,missense_variant,p.Pro1129Leu,ENST00000255882,;PI4KA,downstream_gene_variant,,ENST00000475414,;PI4KA,upstream_gene_variant,,ENST00000494113,;	3473	62	39	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	29	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	29	24	SUCCESS
HIC2	23119	.	GRCh37	22	21796948	21796948	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	73	0	ENST00000407464.2:c.-73-100T>C		p.*25*	ENST00000407464	NM_015094.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13789.1	.	MUTECT|VARSCANS	.	CCTGGTGCCCC	NONE	.	.	.	.	.	ENSP00000387757	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000443632	Transcript	.	.	ENSG00000169635	18595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HIC2_HUMAN	HIC2	HGNC	.	.	UPI000012C71C	SNV	HIC2,5_prime_UTR_variant,,ENST00000443632,;HIC2,intron_variant,,ENST00000407598,;HIC2,intron_variant,,ENST00000407464,;	200	73	37	SUCCESS
SUSD2	56241	.	GRCh37	22	24583419	24583419	+	splice_donor_variant	Splice_Site	SNP	G	G	C	rs747976172	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	50	0	ENST00000358321.3:c.1891+1G>C		p.X631_splice	ENST00000358321	NM_019601.3	631		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13824.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTGTGAGT	NONE	.	.	.	.	.	ENSP00000351075	.	.	.	.	.	.	.	.	.	.	rs747976172	.	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	HIGH	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,splice_donor_variant,,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	.	50	33	SUCCESS
TRIOBP	11078	.	GRCh37	22	38121679	38121679	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759002895	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	21	184	0	ENST00000406386.3:c.3116C>G	p.Pro1039Arg	p.P1039R	ENST00000406386	NM_001039141.2	1039	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS43015.1	3116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCCTTCT	NONE	.	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271,Low_complexity_(Seg):seg	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs759002895	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Pro1039Arg,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	3371	184	102	SUCCESS
DDX17	10521	.	GRCh37	22	38890726	38890726	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	9	143	0	ENST00000403230.1:c.1123A>T	p.Thr375Ser	p.T375S	ENST00000403230		375	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS46706.1	1123	MUTECT|MUSE	.	CTGGGTGTAAT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF219,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000380033	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000396821	Transcript	.	.	ENSG00000100201	2740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	deleterious(0)	.	.	DDX17	HGNC	Q9UQL5_HUMAN,H3BLZ8_HUMAN	.	UPI0001AE634C	SNV	DDX17,missense_variant,p.Thr375Ser,ENST00000403230,;DDX17,missense_variant,p.Thr375Ser,ENST00000396821,;DDX17,missense_variant,p.Thr296Ser,ENST00000381633,;DDX17,non_coding_transcript_exon_variant,,ENST00000432525,;DDX17,downstream_gene_variant,,ENST00000467279,;DDX17,upstream_gene_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000497196,;DDX17,non_coding_transcript_exon_variant,,ENST00000477112,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;	1223	143	102	SUCCESS
SELO	0	.	GRCh37	22	50654258	50654258	+	synonymous_variant	Silent	SNP	G	G	A	rs780435148	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	61	0	ENST00000380903.2:c.1464G>A	p.Glu488=	p.E488=	ENST00000380903	NM_031454.1	488	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS43034.1	1464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGAGCT	NONE	.	.	HAMAP:MF_00692,hmmpanther:PTHR12153,Pfam_domain:PF02696	.	.	ENSP00000370288	.	6/9	.	.	.	.	.	.	.	.	rs780435148	6/9	PASS	ENST00000380903	Transcript	.	.	ENSG00000073169	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	SNV	SELO,synonymous_variant,p.%3D,ENST00000380903,;TUBGCP6,downstream_gene_variant,,ENST00000439308,;TUBGCP6,downstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000248846,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000498611,;	1522	61	39	SUCCESS
ACOXL	55289	.	GRCh37	2	111850452	111850452	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	59	0	ENST00000389811.4:c.1541T>C	p.Leu514Ser	p.L514S	ENST00000389811		514	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS46389.1	1451	MUTECT|MUSE|VARSCANS	.	TCTGTTGTATG	NONE	.	.	Pfam_domain:PF01756,Gene3D:1.20.140.10,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF47203	.	.	ENSP00000407761	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000439055	Transcript	.	.	ENSG00000153093	25621	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ACOXL_HUMAN	ACOXL	HGNC	C9JQI3_HUMAN	.	UPI0001884BE2	SNV	ACOXL,missense_variant,p.Leu514Ser,ENST00000389811,;ACOXL,missense_variant,p.Leu484Ser,ENST00000439055,;ACOXL,missense_variant,p.Leu322Ser,ENST00000417074,;ACOXL,synonymous_variant,p.%3D,ENST00000441974,;ACOXL,3_prime_UTR_variant,,ENST00000443586,;	1675	59	79	SUCCESS
PLEKHB2	55041	.	GRCh37	2	131883409	131883409	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs868315486	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	52	0	ENST00000409279.1:c.121C>T	p.Gln41Ter	p.Q41*	ENST00000409279		41	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS58730.1	121	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGCAGAAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14309,hmmpanther:PTHR14309:SF8,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000386410	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000409158	Transcript	.	.	ENSG00000115762	19236	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PKHB2_HUMAN	PLEKHB2	HGNC	.	.	UPI0000EE817E	SNV	PLEKHB2,stop_gained,p.Gln41Ter,ENST00000403716,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000439822,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000438882,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000409612,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000409158,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000404460,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000234115,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000303908,;PLEKHB2,stop_gained,p.Gln41Ter,ENST00000409279,;PLEKHB2,5_prime_UTR_variant,,ENST00000538982,;PLEKHB2,non_coding_transcript_exon_variant,,ENST00000482225,;	681	52	56	SUCCESS
SCN7A	6332	.	GRCh37	2	167266356	167266357	+	frameshift_variant	Frame_Shift_Ins	INS	GG	GG	TTA	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	146	22	112	0	ENST00000409855.1:c.3800_3801delinsTAA	p.Ala1267ValfsTer7	p.A1267Vfs*7	ENST00000409855	NM_002976.3	1267	gCC/gTAA	0	.	.	.	.	.	TTA	A/VX	protein_coding	YES	CCDS46442.1	3800-3801	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	CATCATGGCTATT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	substitution	SCN7A,frameshift_variant,p.Ala1267ValfsTer7,ENST00000409855,;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	3927-3928	112	168	SUCCESS
TTN	7273	.	GRCh37	2	179417552	179417552	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	11	72	0	ENST00000591111.1:c.85152G>A	p.Val28384=	p.V28384=	ENST00000591111		28384	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS59435.1	90075	MUTECT|MUSE	.	GCCTTCACTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	335/363	.	.	.	.	.	.	.	.	.	335/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;	90300	72	158	SUCCESS
TTN	7273	.	GRCh37	2	179529645	179529645	+	intron_variant	Intron	SNP	C	C	T	rs1212119650	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	26	0	ENST00000591111.1:c.34264+5300G>A		p.*11422*	ENST00000591111		12018		0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS59435.1	36052	MUTECT|MUSE	.	AGGAGCTTCGG	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	166/363	.	.	.	.	.	.	.	.	.	166/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala82Thr,ENST00000425332,;TTN,missense_variant,p.Ala12018Thr,ENST00000589042,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000448510,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	36277	26	64	SUCCESS
TTN	7273	.	GRCh37	2	179531559	179531559	+	intron_variant	Intron	SNP	G	G	A	rs757640925	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	66	0	ENST00000591111.1:c.34264+3386C>T		p.*11422*	ENST00000591111		11956		0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS59435.1	35867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGATGGT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	163/363	.	.	.	.	.	.	.	.	rs757640925	163/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser48Leu,ENST00000425332,;TTN,missense_variant,p.Ser11956Leu,ENST00000589042,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000448510,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	36092	66	75	SUCCESS
PGAP1	80055	.	GRCh37	2	197777730	197777730	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs185881437	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	27	101	1	ENST00000354764.4:c.525G>C	p.Met175Ile	p.M175I	ENST00000354764	NM_024989.3	175	atG/atC	0	.	T:0	.	T:0.0043	.	G	M/I	protein_coding	YES	CCDS2318.1	525	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCATAGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF15,Pfam_domain:PF07819,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	T:0	.	ENSP00000346809	T:0	4/27	.	.	.	.	.	.	.	.	rs185881437	4/27	PASS	ENST00000354764	Transcript	.	T:0.0006	ENSG00000197121	25712	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	T:0	deleterious(0.01)	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	SNV	PGAP1,missense_variant,p.Met175Ile,ENST00000409475,;PGAP1,missense_variant,p.Met133Ile,ENST00000409188,;PGAP1,missense_variant,p.Met175Ile,ENST00000354764,;PGAP1,intron_variant,,ENST00000374738,;PGAP1,non_coding_transcript_exon_variant,,ENST00000485830,;PGAP1,3_prime_UTR_variant,,ENST00000423035,;PGAP1,intron_variant,,ENST00000470179,;	640	102	133	SUCCESS
CPS1	1373	.	GRCh37	2	211442191	211442191	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	76	0	ENST00000233072.5:c.428G>A	p.Trp143Ter	p.W143*	ENST00000233072	NM_001875.4	143	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS46505.1	446	MUTECT|MUSE|VARSCANS	.	CCACTGGCTGG	NONE	.	.	HAMAP:MF_01209,hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01368,Pfam_domain:PF00988,Gene3D:1a9xB01,SMART_domains:SM01097,Superfamily_domains:0034973	.	.	ENSP00000402608	.	5/39	.	.	.	.	.	.	.	.	.	5/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,stop_gained,p.Trp149Ter,ENST00000430249,;CPS1,stop_gained,p.Trp143Ter,ENST00000233072,;CPS1,stop_gained,p.Trp149Ter,ENST00000523702,;CPS1,downstream_gene_variant,,ENST00000417946,;CPS1,downstream_gene_variant,,ENST00000518043,;CPS1,non_coding_transcript_exon_variant,,ENST00000497163,;	501	76	91	SUCCESS
CPS1	1373	.	GRCh37	2	211527868	211527868	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1458915316	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	18	104	0	ENST00000233072.5:c.3949C>T	p.Arg1317Trp	p.R1317W	ENST00000233072	NM_001875.4	1317	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS46505.1	3967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCGGTTG	NONE	.	.	hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Gene3D:3.30.470.20,Superfamily_domains:SSF56059	.	.	ENSP00000402608	.	34/39	.	.	.	.	.	.	.	.	COSM1530642,COSM1494767,COSM1494766,COSM1530641	34/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	possibly_damaging(0.896)	.	deleterious(0)	1,1,1,1	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Arg1323Trp,ENST00000430249,;CPS1,missense_variant,p.Arg1317Trp,ENST00000233072,;CPS1,missense_variant,p.Arg866Trp,ENST00000451903,;CPS1,non_coding_transcript_exon_variant,,ENST00000470791,;	4022	104	107	SUCCESS
ERBB4	2066	.	GRCh37	2	212522515	212522515	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	154	0	ENST00000342788.4:c.1910C>A	p.Pro637Gln	p.P637Q	ENST00000342788	NM_005235.2	637	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS2394.1	1910	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGGGTAG	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,SMART_domains:SM00261	.	.	ENSP00000342235	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	tolerated(0.63)	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Pro637Gln,ENST00000436443,;ERBB4,missense_variant,p.Pro637Gln,ENST00000342788,;ERBB4,intron_variant,,ENST00000402597,;ERBB4,intron_variant,,ENST00000260943,;ERBB4,non_coding_transcript_exon_variant,,ENST00000463121,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	2221	154	87	SUCCESS
EPHA4	2043	.	GRCh37	2	222428899	222428899	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	92	0	ENST00000281821.2:c.375C>A	p.Tyr125Ter	p.Y125*	ENST00000281821	NM_004438.3	125	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS2447.1	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTAGTACAG	NONE	.	.	Superfamily_domains:SSF49785,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Gene3D:2.60.120.260,Pfam_domain:PF01404,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS51550	.	.	ENSP00000281821	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,stop_gained,p.Tyr66Ter,ENST00000419964,;EPHA4,stop_gained,p.Tyr125Ter,ENST00000409854,;EPHA4,stop_gained,p.Tyr74Ter,ENST00000392071,;EPHA4,stop_gained,p.Tyr125Ter,ENST00000541600,;EPHA4,stop_gained,p.Tyr125Ter,ENST00000409938,;EPHA4,stop_gained,p.Tyr125Ter,ENST00000281821,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,3_prime_UTR_variant,,ENST00000415749,;	417	92	94	SUCCESS
PAX3	5077	.	GRCh37	2	223066833	223066833	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	11	81	0	ENST00000350526.4:c.1250G>C	p.Gly417Ala	p.G417A	ENST00000350526	NM_181457.3	417	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS2448.1	1250	RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCCGGTG	NONE	.	.	hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329	.	.	ENSP00000375921	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.647)	.	deleterious_low_confidence(0.01)	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,missense_variant,p.Gly417Ala,ENST00000392070,;PAX3,missense_variant,p.Gly417Ala,ENST00000392069,;PAX3,missense_variant,p.Gly416Ala,ENST00000409551,;PAX3,missense_variant,p.Gly417Ala,ENST00000350526,;PAX3,intron_variant,,ENST00000336840,;PAX3,intron_variant,,ENST00000344493,;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,downstream_gene_variant,,ENST00000555548,;	1616	81	110	SUCCESS
ANO7	50636	.	GRCh37	2	242149036	242149036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	118	0	ENST00000274979.8:c.1507G>T	p.Val503Leu	p.V503L	ENST00000274979	NM_001001891.3	503	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS33423.1	1507	MUTECT|MUSE	.	CTGTGGTGATC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000274979	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000274979	Transcript	.	.	ENSG00000146205	31677	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.17)	.	ANO7_HUMAN	ANO7	HGNC	.	.	UPI0000D612DB	SNV	ANO7,missense_variant,p.Val502Leu,ENST00000402430,;ANO7,missense_variant,p.Val503Leu,ENST00000274979,;ANO7,upstream_gene_variant,,ENST00000471606,;	1610	118	60	SUCCESS
ADCY3	109	.	GRCh37	2	25045489	25045489	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	80	0	ENST00000260600.5:c.2894A>T	p.Asn965Ile	p.N965I	ENST00000260600	NM_004036.3	965	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS1715.1	2894	MUTECT|MUSE|VARSCANS	.	TGGGATTGTCC	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000260600	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000260600	Transcript	.	.	ENSG00000138031	234	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.149)	.	tolerated(0.12)	.	ADCY3_HUMAN	ADCY3	HGNC	Q8NBM1_HUMAN,C9J969_HUMAN	.	UPI000013D0ED	SNV	ADCY3,missense_variant,p.Asn965Ile,ENST00000260600,;ADCY3,missense_variant,p.Asn612Ile,ENST00000606682,;ADCY3,missense_variant,p.Asn552Ile,ENST00000405392,;CENPO,downstream_gene_variant,,ENST00000260662,;ADCY3,downstream_gene_variant,,ENST00000455323,;CENPO,downstream_gene_variant,,ENST00000380834,;ADCY3,upstream_gene_variant,,ENST00000498288,;CENPO,downstream_gene_variant,,ENST00000473706,;RP11-443B20.1,upstream_gene_variant,,ENST00000606114,;CENPO,downstream_gene_variant,,ENST00000395845,;CENPO,downstream_gene_variant,,ENST00000498362,;CENPO,downstream_gene_variant,,ENST00000464156,;ADCY3,downstream_gene_variant,,ENST00000450524,;ADCY3,non_coding_transcript_exon_variant,,ENST00000485887,;	3746	80	55	SUCCESS
PLB1	151056	.	GRCh37	2	28785968	28785968	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	84	0	ENST00000327757.5:c.1206+2T>G		p.X402_splice	ENST00000327757	NM_153021.4	402		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33168.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACGGTAAGTG	NONE	.	.	.	.	.	ENSP00000330442	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	HIGH	18/57	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,splice_donor_variant,,ENST00000327757,;PLB1,splice_donor_variant,,ENST00000422425,;PLB1,splice_donor_variant,,ENST00000436544,;PLB1,splice_donor_variant,,ENST00000329020,;PLB1,splice_donor_variant,,ENST00000404858,;PLB1,upstream_gene_variant,,ENST00000485642,;	.	84	91	SUCCESS
KCNG3	170850	.	GRCh37	2	42671524	42671524	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	17	102	0	ENST00000306078.1:c.861C>G	p.Thr287=	p.T287=	ENST00000306078	NM_133329.5	287	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1809.1	861	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGGTGAC	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF91	.	.	ENSP00000304127	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306078	Transcript	.	.	ENSG00000171126	18306	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNG3_HUMAN	KCNG3	HGNC	.	.	UPI00000557D9	SNV	KCNG3,synonymous_variant,p.%3D,ENST00000306078,;KCNG3,synonymous_variant,p.%3D,ENST00000394973,;SNORD75,downstream_gene_variant,,ENST00000408373,;	1457	102	124	SUCCESS
XPO1	7514	.	GRCh37	2	61726983	61726983	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	37	248	0	ENST00000401558.2:c.455A>T	p.Asp152Val	p.D152V	ENST00000401558	NM_003400.3	152	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS33205.1	455	RADIA|MUTECT|MUSE|VARSCANS	.	CAATATCACTG	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Asp152Val,ENST00000404992,;XPO1,missense_variant,p.Asp152Val,ENST00000401558,;XPO1,missense_variant,p.Asp152Val,ENST00000406957,;XPO1,missense_variant,p.Asp152Val,ENST00000451765,;XPO1,downstream_gene_variant,,ENST00000443240,;XPO1,downstream_gene_variant,,ENST00000468259,;XPO1,downstream_gene_variant,,ENST00000476585,;XPO1,stop_lost,p.Ter73CysextTer6,ENST00000437159,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000489954,;XPO1,upstream_gene_variant,,ENST00000460037,;XPO1,upstream_gene_variant,,ENST00000475744,;	1183	248	221	SUCCESS
TET3	200424	.	GRCh37	2	74273774	74273774	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	8	269	1	ENST00000409262.3:c.325G>T	p.Glu109Ter	p.E109*	ENST00000409262	NM_144993.1	109	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS46339.1	325	MUTECT|MUSE	.	GGCCTGAGGGC	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4	.	.	ENSP00000386869	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000409262	Transcript	.	.	ENSG00000187605	28313	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TET3_HUMAN	TET3	HGNC	K9JJH7_HUMAN	.	UPI0000DD79F5	SNV	TET3,stop_gained,p.Glu109Ter,ENST00000409262,;TET3,stop_gained,p.Glu151Ter,ENST00000305799,;TET3,upstream_gene_variant,,ENST00000475405,;	325	271	179	SUCCESS
DNAH6	1768	.	GRCh37	2	84822866	84822866	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	96	0	ENST00000237449.6:c.2821A>C	p.Ser941Arg	p.S941R	ENST00000237449		941	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS46348.1	2821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACAGTGTA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	18/77	.	.	.	.	.	.	.	.	.	18/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.16)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Ser941Arg,ENST00000237449,;DNAH6,missense_variant,p.Ser941Arg,ENST00000398278,;DNAH6,missense_variant,p.Ser941Arg,ENST00000389394,;	2958	97	65	SUCCESS
BBX	56987	.	GRCh37	3	107520030	107520030	+	synonymous_variant	Silent	SNP	C	C	T	rs149629200	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	5	79	0	ENST00000325805.8:c.2640C>T	p.Val880=	p.V880=	ENST00000325805		880	gtC/gtT	0	T:0.0027	T:0.003	.	T:0	.	T	V	protein_coding	YES	CCDS46881.1	2640	MUTECT|MUSE	.	GAGGTCGGGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13059	T:0	T:0	ENSP00000319974	T:0	17/18	.	.	.	.	.	.	.	.	rs149629200	17/18	PASS	ENST00000325805	Transcript	.	T:0.0008	ENSG00000114439	14422	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	BBX_HUMAN	BBX	HGNC	Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN	.	UPI000007315E	SNV	BBX,missense_variant,p.Ser544Leu,ENST00000416476,;BBX,synonymous_variant,p.%3D,ENST00000415149,;BBX,synonymous_variant,p.%3D,ENST00000402543,;BBX,synonymous_variant,p.%3D,ENST00000458347,;BBX,synonymous_variant,p.%3D,ENST00000325805,;BBX,synonymous_variant,p.%3D,ENST00000406780,;BBX,downstream_gene_variant,,ENST00000443253,;BBX,downstream_gene_variant,,ENST00000473542,;	2927	79	75	SUCCESS
IFT57	55081	.	GRCh37	3	107881360	107881360	+	synonymous_variant	Silent	SNP	G	G	A	rs1317938805	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	64	0	ENST00000264538.3:c.1254C>T	p.Ala418=	p.A418=	ENST00000264538	NM_018010.3	418	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2951.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTGGCATG	NONE	.	.	hmmpanther:PTHR16011	.	.	ENSP00000264538	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000264538	Transcript	.	.	ENSG00000114446	17367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFT57_HUMAN	IFT57	HGNC	.	.	UPI0000039E8B	SNV	IFT57,synonymous_variant,p.%3D,ENST00000264538,;IFT57,downstream_gene_variant,,ENST00000468021,;IFT57,downstream_gene_variant,,ENST00000478157,;	1502	64	102	SUCCESS
RHO	6010	.	GRCh37	3	129251433	129251433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	91	0	ENST00000296271.3:c.754C>A	p.Arg252Ser	p.R252S	ENST00000296271	NM_000539.3	252	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3063.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCGCATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF15,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000296271	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000296271	Transcript	.	.	ENSG00000163914	10012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OPSD_HUMAN	RHO	HGNC	.	.	UPI0000046CE6	SNV	RHO,missense_variant,p.Arg252Ser,ENST00000296271,;	848	91	54	SUCCESS
DZIP1L	199221	.	GRCh37	3	137783479	137783479	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	146	0	ENST00000327532.2:c.2133G>A	p.Arg711=	p.R711=	ENST00000327532	NM_173543.2	711	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3096.1	2133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCCTTCC	NONE	.	.	hmmpanther:PTHR21502:SF8,hmmpanther:PTHR21502	.	.	ENSP00000332148	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000327532	Transcript	.	.	ENSG00000158163	26551	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZI1L_HUMAN	DZIP1L	HGNC	C9JRW2_HUMAN,C9JD19_HUMAN	.	UPI0000161A66	SNV	DZIP1L,synonymous_variant,p.%3D,ENST00000327532,;DZIP1L,synonymous_variant,p.%3D,ENST00000486487,;DZIP1L,downstream_gene_variant,,ENST00000469243,;DZIP1L,downstream_gene_variant,,ENST00000488595,;	2496	146	111	SUCCESS
CNTN6	27255	.	GRCh37	3	1444079	1444079	+	synonymous_variant	Silent	SNP	A	A	G	rs773206932	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	26	189	0	ENST00000350110.2:c.2895A>G	p.Pro965=	p.P965=	ENST00000350110	NM_014461.2	965	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS2557.1	2895	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCATTTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000407822	.	22/23	.	.	.	.	.	.	.	.	rs773206932	22/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,synonymous_variant,p.%3D,ENST00000539053,;CNTN6,synonymous_variant,p.%3D,ENST00000446702,;CNTN6,synonymous_variant,p.%3D,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,non_coding_transcript_exon_variant,,ENST00000485257,;	3522	189	210	SUCCESS
SI	6476	.	GRCh37	3	164748642	164748642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	15	87	0	ENST00000264382.3:c.2750C>A	p.Ala917Glu	p.A917E	ENST00000264382	NM_001041.3	917	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS3196.1	2750	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGCAATT	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	25/48	.	.	.	.	.	.	.	.	.	25/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.25)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Ala917Glu,ENST00000264382,;	2813	87	134	SUCCESS
BAP1	8314	.	GRCh37	3	52436677	52436708	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTCTGGTCATCAATCTGTAGGAGAGAAGAAGA	CTCTGGTCATCAATCTGTAGGAGAGAAGAAGA	-	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	CTCTGGTCATCAATCTGTAGGAGAGAAGAAGA	CTCTGGTCATCAATCTGTAGGAGAGAAGAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	136	0	ENST00000460680.1:c.1984-18_1997del		p.X662_splice	ENST00000460680	NM_004656.3	662		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2853.1	?-1997	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAG	BUFFER|p.?|c.1984-1G>T|4	.	.	.	.	.	ENSP00000417132	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	15/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,splice_acceptor_variant,,ENST00000469613,;BAP1,splice_acceptor_variant,,ENST00000478368,;BAP1,splice_acceptor_variant,,ENST00000296288,;BAP1,splice_acceptor_variant,,ENST00000460680,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,splice_acceptor_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	?-2469	136	73	SUCCESS
ACOX2	8309	.	GRCh37	3	58519815	58519815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	81	1	ENST00000302819.5:c.381G>T	p.Arg127Ser	p.R127S	ENST00000302819	NM_003500.3	127	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS33775.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCCTGAG	NONE	.	.	hmmpanther:PTHR10909:SF266,hmmpanther:PTHR10909,Pfam_domain:PF14749,Gene3D:1.10.540.10,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF56645	.	.	ENSP00000307697	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000302819	Transcript	.	.	ENSG00000168306	120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.82)	.	ACOX2_HUMAN	ACOX2	HGNC	C9JY29_HUMAN,B4DPM1_HUMAN	.	UPI000000DC36	SNV	ACOX2,missense_variant,p.Arg127Ser,ENST00000459701,;ACOX2,missense_variant,p.Arg127Ser,ENST00000302819,;ACOX2,missense_variant,p.Arg127Ser,ENST00000474098,;ACOX2,non_coding_transcript_exon_variant,,ENST00000475143,;ACOX2,3_prime_UTR_variant,,ENST00000492530,;ACOX2,downstream_gene_variant,,ENST00000480791,;ACOX2,upstream_gene_variant,,ENST00000459888,;ACOX2,upstream_gene_variant,,ENST00000489472,;ACOX2,downstream_gene_variant,,ENST00000466689,;ACOX2,upstream_gene_variant,,ENST00000466810,;	673	82	50	SUCCESS
BOD1L1	259282	.	GRCh37	4	13603610	13603610	+	synonymous_variant	Silent	SNP	G	G	T	rs561052858	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	32	0	ENST00000040738.5:c.4914C>A	p.Ile1638=	p.I1638=	ENST00000040738	NM_148894.2	1638	atC/atA	0	.	A:0.0008	.	A:0	.	T	I	protein_coding	YES	CCDS3411.2	4914	MUTECT|MUSE	.	GCTTCGATTTT	NONE	by1000G	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	A:0	.	ENSP00000040738	A:0	10/26	.	.	.	.	.	.	.	.	rs561052858,COSM1051289	10/26	PASS	ENST00000040738	Transcript	.	A:0.0002	ENSG00000038219	31792	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,synonymous_variant,p.%3D,ENST00000040738,;	5050	32	64	SUCCESS
TBC1D9	23158	.	GRCh37	4	141590109	141590109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769634349	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	62	0	ENST00000442267.2:c.1550C>T	p.Pro517Leu	p.P517L	ENST00000442267	NM_015130.2	517	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47136.1	1550	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGGGATG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000411197	.	9/21	.	.	.	.	.	.	.	.	rs769634349	9/21	PASS	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,missense_variant,p.Pro517Leu,ENST00000442267,;TBC1D9,downstream_gene_variant,,ENST00000514787,;	1625	62	50	SUCCESS
LRBA	987	.	GRCh37	4	151656474	151656474	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	60	0	ENST00000357115.3:c.5690A>T	p.Asn1897Ile	p.N1897I	ENST00000357115	NM_006726.4	1897	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS3773.1	5690	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATTTGCT	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Pfam_domain:PF06469	.	.	ENSP00000349629	.	36/58	.	.	.	.	.	.	.	.	.	36/58	PASS	ENST00000357115	Transcript	1	.	ENSG00000198589	1742	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRBA_HUMAN	LRBA	HGNC	Q7KZN3_HUMAN	.	UPI000013E35C	SNV	LRBA,missense_variant,p.Asn1897Ile,ENST00000535741,;LRBA,missense_variant,p.Asn1897Ile,ENST00000507224,;LRBA,missense_variant,p.Asn1897Ile,ENST00000357115,;LRBA,missense_variant,p.Asn1897Ile,ENST00000510413,;LRBA,missense_variant,p.Asn550Ile,ENST00000509835,;	5934	60	100	SUCCESS
GRIA2	2891	.	GRCh37	4	158257008	158257008	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	27	85	0	ENST00000264426.9:c.1452G>A	p.Met484Ile	p.M484I	ENST00000264426	NM_001083619.1	484	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3797.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGGTTGG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.190.10,Pfam_domain:PF10613,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850,Prints_domain:PR00177	.	.	ENSP00000296526	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.07)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Met437Ile,ENST00000393815,;GRIA2,missense_variant,p.Met484Ile,ENST00000296526,;GRIA2,missense_variant,p.Met484Ile,ENST00000264426,;GRIA2,missense_variant,p.Met437Ile,ENST00000507898,;GRIA2,missense_variant,p.Met437Ile,ENST00000449365,;GRIA2,missense_variant,p.Met437Ile,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	1777	85	154	SUCCESS
ADAM29	11086	.	GRCh37	4	175897786	175897786	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	71	0	ENST00000359240.3:c.1110T>C	p.Ser370=	p.S370=	ENST00000359240	NM_014269.4	370	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3823.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGTTATGG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,synonymous_variant,p.%3D,ENST00000514159,;ADAM29,synonymous_variant,p.%3D,ENST00000445694,;ADAM29,synonymous_variant,p.%3D,ENST00000404450,;ADAM29,synonymous_variant,p.%3D,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	1780	71	103	SUCCESS
VEGFC	7424	.	GRCh37	4	177608548	177608548	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	58	0	ENST00000280193.2:c.938A>G	p.Asn313Ser	p.N313S	ENST00000280193	NM_005429.3	313	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS43285.1	938	MUTECT|MUSE|VARSCANS	.	ATGAGTTTCTG	NONE	.	.	hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3,Pfam_domain:PF03128	.	.	ENSP00000280193	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000280193	Transcript	1	.	ENSG00000150630	12682	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.26)	.	VEGFC_HUMAN	VEGFC	HGNC	.	.	UPI000020B749	SNV	VEGFC,missense_variant,p.Asn313Ser,ENST00000280193,;RP11-313E19.2,intron_variant,,ENST00000509194,;RP11-313E19.2,intron_variant,,ENST00000504017,;VEGFC,downstream_gene_variant,,ENST00000507638,;	1354	58	72	SUCCESS
WHSC1	0	.	GRCh37	4	1955216	1955216	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs959360615	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	92	0	ENST00000382895.3:c.2303A>G	p.His768Arg	p.H768R	ENST00000382895	NM_133330.2	768	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33940.1	2303	MUTECT|MUSE	.	CTGCCATGCTT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293	.	.	ENSP00000372351	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.477)	.	tolerated(0.35)	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,missense_variant,p.His768Arg,ENST00000508803,;WHSC1,missense_variant,p.His116Arg,ENST00000382888,;WHSC1,missense_variant,p.His768Arg,ENST00000382892,;WHSC1,missense_variant,p.His768Arg,ENST00000382895,;WHSC1,missense_variant,p.His768Arg,ENST00000382891,;WHSC1,intron_variant,,ENST00000514329,;WHSC1,downstream_gene_variant,,ENST00000503128,;WHSC1,downstream_gene_variant,,ENST00000398261,;WHSC1,non_coding_transcript_exon_variant,,ENST00000503207,;WHSC1,non_coding_transcript_exon_variant,,ENST00000502425,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000513726,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,upstream_gene_variant,,ENST00000507094,;WHSC1,downstream_gene_variant,,ENST00000511904,;	2734	92	69	SUCCESS
SEPSECS	51091	.	GRCh37	4	25160666	25160666	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780793316	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	13	183	0	ENST00000382103.2:c.178A>T	p.Ile60Phe	p.I60F	ENST00000382103	NM_016955.3	60	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS3432.2	178	RADIA|MUTECT|MUSE|VARSCANS	.	CATGATTGCAA	NONE	.	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF017689,TIGRFAM_domain:TIGR03531,hmmpanther:PTHR12944	.	.	ENSP00000371535	.	2/11	.	.	.	.	.	.	.	.	rs780793316,COSM1149918	2/11	PASS	ENST00000382103	Transcript	1	.	ENSG00000109618	30605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.011)	.	tolerated(0.23)	0,1	SPCS_HUMAN	SEPSECS	HGNC	A1A4F3_HUMAN	.	UPI000020BDD0	SNV	SEPSECS,missense_variant,p.Ile145Phe,ENST00000513285,;SEPSECS,missense_variant,p.Ile60Phe,ENST00000382103,;SEPSECS,intron_variant,,ENST00000302922,;PI4K2B,upstream_gene_variant,,ENST00000512921,;PI4K2B,upstream_gene_variant,,ENST00000507794,;PI4K2B,upstream_gene_variant,,ENST00000510415,;SEPSECS,missense_variant,p.Gln105His,ENST00000358971,;SEPSECS,intron_variant,,ENST00000514585,;SEPSECS,upstream_gene_variant,,ENST00000503150,;SEPSECS,upstream_gene_variant,,ENST00000505513,;	251	183	134	SUCCESS
HTT	3064	.	GRCh37	4	3240566	3240566	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	46	0	ENST00000355072.5:c.9076A>G	p.Thr3026Ala	p.T3026A	ENST00000355072	NM_002111.6	3026	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS43206.1	9076	MUTECT|MUSE	.	ACAGCACCGGG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	66/67	.	.	.	.	.	.	.	.	.	66/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Thr3026Ala,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;	9221	46	36	SUCCESS
OTOP1	133060	.	GRCh37	4	4199209	4199209	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs951883306	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	81	0	ENST00000296358.4:c.1352C>T	p.Pro451Leu	p.P451L	ENST00000296358	NM_177998.1	451	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3372.1	1352	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGGCTCT	NONE	.	.	hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000296358	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	.	tolerated(0.08)	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,missense_variant,p.Pro451Leu,ENST00000296358,;	1377	81	107	SUCCESS
NFXL1	152518	.	GRCh37	4	47901542	47901542	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	242	15	92	0	ENST00000329043.3:c.671A>G	p.Lys224Arg	p.K224R	ENST00000329043		224	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3478.2	671	MUTECT|MUSE	.	ATCGTTTGTAT	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1,Superfamily_domains:SSF57850	.	.	ENSP00000422037	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.16)	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,missense_variant,p.Lys224Arg,ENST00000381538,;NFXL1,missense_variant,p.Lys224Arg,ENST00000507489,;NFXL1,missense_variant,p.Lys224Arg,ENST00000329043,;NFXL1,missense_variant,p.Lys224Arg,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;	848	92	257	SUCCESS
FRYL	285527	.	GRCh37	4	48542578	48542578	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	265	9	80	0	ENST00000358350.4:c.6087G>A	p.Leu2029=	p.L2029=	ENST00000358350	NM_015030.1	2029	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43227.1	6087	MUTECT|MUSE	.	ATAAGCAGTTT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,Pfam_domain:PF14225,Gene3D:1.25.10.10,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	46/64	.	.	.	.	.	.	.	.	.	46/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,synonymous_variant,p.%3D,ENST00000514617,;FRYL,synonymous_variant,p.%3D,ENST00000358350,;FRYL,synonymous_variant,p.%3D,ENST00000503238,;FRYL,synonymous_variant,p.%3D,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,upstream_gene_variant,,ENST00000512297,;FRYL,non_coding_transcript_exon_variant,,ENST00000513401,;	6692	80	274	SUCCESS
KDR	3791	.	GRCh37	4	55974019	55974019	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	16	64	0	ENST00000263923.4:c.1297G>T	p.Asp433Tyr	p.D433Y	ENST00000263923	NM_002253.2	433	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS3497.1	1297	RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCCACAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000263923	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,missense_variant,p.Asp433Tyr,ENST00000263923,;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	1593	64	122	SUCCESS
PPAT	5471	.	GRCh37	4	57272854	57272854	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	53	0	ENST00000264220.2:c.209T>C	p.Val70Ala	p.V70A	ENST00000264220	NM_002703.4	70	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3505.1	209	MUTECT|MUSE|VARSCANS	.	GATTTACAAGA	NONE	.	.	PROSITE_profiles:PS51278,hmmpanther:PTHR11907,hmmpanther:PTHR11907:SF3,TIGRFAM_domain:TIGR01134,Gene3D:3.60.20.10,PIRSF_domain:PIRSF000485,Superfamily_domains:SSF56235	.	.	ENSP00000264220	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000264220	Transcript	.	.	ENSG00000128059	9238	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.549)	.	deleterious(0.05)	.	PUR1_HUMAN	PPAT	HGNC	A8K4H7_HUMAN	.	UPI0000000C5A	SNV	PPAT,missense_variant,p.Val70Ala,ENST00000264220,;AC068620.1,upstream_gene_variant,,ENST00000598320,;PPAT,non_coding_transcript_exon_variant,,ENST00000507648,;PPAT,missense_variant,p.Val70Ala,ENST00000510643,;PPAT,intron_variant,,ENST00000507724,;	347	53	52	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86898763	86898763	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	120	0	ENST00000395184.1:c.847A>G	p.Met283Val	p.M283V	ENST00000395184	NM_001025616.2	283	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34025.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAATGAGT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000378611	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,missense_variant,p.Met190Val,ENST00000264343,;ARHGAP24,missense_variant,p.Met198Val,ENST00000514229,;ARHGAP24,missense_variant,p.Met283Val,ENST00000395184,;ARHGAP24,missense_variant,p.Met188Val,ENST00000395183,;ARHGAP24,downstream_gene_variant,,ENST00000502537,;	1313	120	124	SUCCESS
FAM13A	10144	.	GRCh37	4	89744163	89744163	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	8	46	0	ENST00000264344.5:c.1008-17960A>G		p.*336*	ENST00000264344	NM_014883.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34029.1	.	MUTECT|MUSE	.	TCGTATGTAAA	NONE	.	.	.	.	.	ENSP00000264344	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264344	Transcript	1	.	ENSG00000138640	19367	.	.	MODIFIER	7/23	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA13A_HUMAN	FAM13A	HGNC	B4DPB4_HUMAN	.	UPI0000481AF3	SNV	FAM13A,5_prime_UTR_variant,,ENST00000508369,;FAM13A,5_prime_UTR_variant,,ENST00000503556,;FAM13A,5_prime_UTR_variant,,ENST00000395002,;FAM13A,5_prime_UTR_variant,,ENST00000513837,;FAM13A,intron_variant,,ENST00000511976,;FAM13A,intron_variant,,ENST00000264344,;FAM13A,intron_variant,,ENST00000502459,;FAM13A,5_prime_UTR_variant,,ENST00000504836,;FAM13A,5_prime_UTR_variant,,ENST00000507352,;	.	46	133	SUCCESS
FBN2	2201	.	GRCh37	5	127645693	127645693	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	56	120	0	ENST00000262464.4:c.5182G>T	p.Gly1728Ter	p.G1728*	ENST00000262464	NM_001999.3	1728	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS34222.1	5182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCATTGA	NONE	.	.	SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	46/71	.	.	.	.	.	.	.	.	.	46/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,stop_gained,p.Gly1728Ter,ENST00000262464,;FBN2,stop_gained,p.Gly1728Ter,ENST00000508053,;	6157	120	201	SUCCESS
FBN2	2201	.	GRCh37	5	127681186	127681186	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	15	184	0	ENST00000262464.4:c.3080G>T	p.Cys1027Phe	p.C1027F	ENST00000262464	NM_001999.3	1027	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34222.1	3080	MUTECT|MUSE|VARSCANS	.	CAGCACAGCAG	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	30/71	.	.	.	.	.	.	.	.	COSM1197599,COSM1197600	30/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Cys1027Phe,ENST00000262464,;FBN2,missense_variant,p.Cys1027Phe,ENST00000508053,;FBN2,missense_variant,p.Cys994Phe,ENST00000508989,;	4055	184	171	SUCCESS
RAD50	10111	.	GRCh37	5	131953889	131953889	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750947088	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	284	38	368	0	ENST00000265335.6:c.3292C>T	p.Arg1098Trp	p.R1098W	ENST00000265335		1098	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS34233.1	3292	RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCGGGAT	NONE	byFrequency	.	hmmpanther:PTHR18867:SF12,hmmpanther:PTHR18867,TIGRFAM_domain:TIGR00606	.	.	ENSP00000265335	.	21/25	.	.	.	.	.	.	.	.	rs750947088,COSM1060702,COSM1060701	21/25	PASS	ENST00000265335	Transcript	1	.	ENSG00000113522	9816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.003)	.	deleterious(0.04)	0,1,1	RAD50_HUMAN	RAD50	HGNC	C9JNH8_HUMAN,A8K3I2_HUMAN	.	UPI000006E9ED	SNV	RAD50,missense_variant,p.Arg959Trp,ENST00000378823,;RAD50,missense_variant,p.Arg1098Trp,ENST00000265335,;RAD50,upstream_gene_variant,,ENST00000455677,;RAD50,3_prime_UTR_variant,,ENST00000533482,;	3679	368	322	SUCCESS
JADE2	23338	.	GRCh37	5	133902158	133902158	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	161	0	ENST00000395003.1:c.1322A>T	p.Gln441Leu	p.Q441L	ENST00000395003	NM_015288.4	441	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4176.1	1322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCAGCCGC	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84	.	.	ENSP00000378451	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000395003	Transcript	.	.	ENSG00000043143	22984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0)	.	JADE2_HUMAN	JADE2	HGNC	D6R9B8_HUMAN,C9J929_HUMAN	.	UPI00002331C9	SNV	JADE2,missense_variant,p.Gln441Leu,ENST00000395003,;JADE2,missense_variant,p.Gln441Leu,ENST00000282605,;JADE2,missense_variant,p.Gln441Leu,ENST00000402835,;JADE2,missense_variant,p.Gln441Leu,ENST00000361895,;JADE2,downstream_gene_variant,,ENST00000431355,;JADE2,non_coding_transcript_exon_variant,,ENST00000470876,;	1501	161	108	SUCCESS
GFRA3	2676	.	GRCh37	5	137610243	137610243	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	27	0	ENST00000274721.3:c.-130G>T		p.*44*	ENST00000274721	NM_001496.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4201.1	.	MUTECT|MUSE	.	CCCACCAGGGT	NONE	.	.	.	.	.	ENSP00000274721	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000274721	Transcript	.	.	ENSG00000146013	4245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GFRA3_HUMAN	GFRA3	HGNC	.	.	UPI0000030833	SNV	GFRA3,5_prime_UTR_variant,,ENST00000378362,;GFRA3,5_prime_UTR_variant,,ENST00000274721,;RN7SL682P,upstream_gene_variant,,ENST00000584194,;	118	27	35	SUCCESS
PCDHA5	56143	.	GRCh37	5	140203048	140203048	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	24	114	0	ENST00000529859.1:c.1688C>T	p.Ala563Val	p.A563V	ENST00000529859	NM_018908.2	563	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS54917.1	1688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCGCTGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	COSM295488,COSM295489	1/4	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	tolerated_low_confidence(0.29)	1,1	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Ala563Val,ENST00000529619,;PCDHA5,missense_variant,p.Ala563Val,ENST00000378126,;PCDHA5,missense_variant,p.Ala563Val,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	1688	114	85	SUCCESS
PCDHB4	56131	.	GRCh37	5	140501987	140501987	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	49	150	0	ENST00000194152.1:c.407A>T	p.Glu136Val	p.E136V	ENST00000194152	NM_018938.2	136	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4246.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGAAGTGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF55,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000194152	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000194152	Transcript	.	.	ENSG00000081818	8689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious_low_confidence(0.01)	.	PCDB4_HUMAN	PCDHB4	HGNC	.	.	UPI00001273DF	SNV	PCDHB4,missense_variant,p.Glu136Val,ENST00000194152,;AC005754.8,downstream_gene_variant,,ENST00000606030,;	407	150	149	SUCCESS
ZNF300	91975	.	GRCh37	5	150275988	150275988	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	51	0	ENST00000274599.5:c.813T>C	p.Cys271=	p.C271=	ENST00000274599	NM_052860.2	271	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS54940.1	861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACACATAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF288,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000397178	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000446148	Transcript	.	.	ENSG00000145908	13091	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF300	HGNC	J3KQF6_HUMAN	.	UPI0001AE74AD	SNV	ZNF300,synonymous_variant,p.%3D,ENST00000418587,;ZNF300,synonymous_variant,p.%3D,ENST00000274599,;ZNF300,synonymous_variant,p.%3D,ENST00000394226,;ZNF300,synonymous_variant,p.%3D,ENST00000446148,;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	1289	51	103	SUCCESS
NMUR2	56923	.	GRCh37	5	151771949	151771949	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs368060763	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	15	94	0	ENST00000255262.3:c.1051T>A	p.Ser351Thr	p.S351T	ENST00000255262	NM_020167.4	351	Tcc/Acc	0	T:0	.	.	.	.	T	S/T	protein_coding	YES	CCDS4321.1	1051	MUTECT|MUSE|VARSCANS	.	CTGGGAGTGCC	NONE	byCluster	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	T:0.0001	ENSP00000255262	.	4/4	.	.	.	.	.	.	.	.	rs368060763	4/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.19)	.	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,missense_variant,p.Ser351Thr,ENST00000255262,;NMUR2,downstream_gene_variant,,ENST00000518933,;	1217	94	155	SUCCESS
NSD1	64324	.	GRCh37	5	176722371	176722371	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	22	245	0	ENST00000439151.2:c.8002G>A	p.Gly2668Arg	p.G2668R	ENST00000439151	NM_022455.4	2668	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS4412.1	8002	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGGGCAA	NONE	.	.	.	.	.	ENSP00000395929	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Gly2565Arg,ENST00000361032,;NSD1,missense_variant,p.Gly2399Arg,ENST00000354179,;NSD1,missense_variant,p.Gly2668Arg,ENST00000439151,;NSD1,missense_variant,p.Gly2399Arg,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000513736,;	8047	245	226	SUCCESS
MXD3	83463	.	GRCh37	5	176734612	176734612	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1165540290	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	158	0	ENST00000439742.2:c.598C>T	p.His200Tyr	p.H200Y	ENST00000439742	NM_031300.3	200	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS4416.1	598	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGCGAGT	NONE	.	.	hmmpanther:PTHR11969:SF6,hmmpanther:PTHR11969	.	.	ENSP00000401867	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000439742	Transcript	.	.	ENSG00000213347	14008	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.66)	.	MAD3_HUMAN	MXD3	HGNC	D6RD21_HUMAN	.	UPI00000437EB	SNV	MXD3,missense_variant,p.His200Tyr,ENST00000513063,;MXD3,missense_variant,p.His200Tyr,ENST00000439742,;MXD3,synonymous_variant,p.%3D,ENST00000423571,;MXD3,intron_variant,,ENST00000427908,;RAB24,upstream_gene_variant,,ENST00000303251,;PRELID1,downstream_gene_variant,,ENST00000303204,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000513169,;PRELID1,downstream_gene_variant,,ENST00000503853,;RAB24,upstream_gene_variant,,ENST00000504395,;PRELID1,downstream_gene_variant,,ENST00000503216,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;MXD3,non_coding_transcript_exon_variant,,ENST00000503782,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;PRELID1,downstream_gene_variant,,ENST00000510797,;PRELID1,downstream_gene_variant,,ENST00000504594,;PRELID1,downstream_gene_variant,,ENST00000511309,;RAB24,upstream_gene_variant,,ENST00000512758,;PRELID1,downstream_gene_variant,,ENST00000510701,;RAB24,upstream_gene_variant,,ENST00000495458,;	1077	158	94	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178554970	178554970	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	67	0	ENST00000251582.7:c.2607del	p.Cys870ValfsTer120	p.C870Vfs*120	ENST00000251582	NM_014244.4	869	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS4444.1	2607	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCACAGGGCTT	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Pfam_domain:PF00090,Gene3D:2.20.100.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50092	.	.	ENSP00000251582	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	deletion	ADAMTS2,frameshift_variant,p.Cys870ValfsTer120,ENST00000251582,;	2709	67	48	SUCCESS
CNOT6	57472	.	GRCh37	5	179980384	179980384	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	14	125	0	ENST00000261951.4:c.300-2A>G		p.X100_splice	ENST00000261951	NM_015455.3	100		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4455.1	.	MUTECT|MUSE|VARSCANS	.	TCAACAGGGAG	NONE	.	.	.	.	.	ENSP00000377024	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393356	Transcript	.	.	ENSG00000113300	14099	.	.	HIGH	5/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNOT6_HUMAN	CNOT6	HGNC	.	.	UPI000013D22B	SNV	CNOT6,splice_acceptor_variant,,ENST00000393356,;CNOT6,splice_acceptor_variant,,ENST00000261951,;CNOT6,intron_variant,,ENST00000504343,;CNOT6,intron_variant,,ENST00000502447,;CNOT6,downstream_gene_variant,,ENST00000507016,;	.	125	141	SUCCESS
FLT4	2324	.	GRCh37	5	180048891	180048891	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	95	0	ENST00000261937.6:c.1671C>T	p.Gly557=	p.G557=	ENST00000261937	NM_182925.4	557	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4457.1	1671	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGCCGTC	NONE	.	.	Superfamily_domains:SSF48726,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000261937	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	1750	96	70	SUCCESS
BTNL9	153579	.	GRCh37	5	180475133	180475133	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	28	176	0	ENST00000327705.9:c.316T>A	p.Leu106Met	p.L106M	ENST00000327705	NM_152547.4	106	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS4460.2	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGTTGGTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF50,hmmpanther:PTHR24100,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000330200	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000327705	Transcript	.	.	ENSG00000165810	24176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.02)	.	BTNL9_HUMAN	BTNL9	HGNC	Q8N324_HUMAN	.	UPI000004C620	SNV	BTNL9,missense_variant,p.Leu106Met,ENST00000376841,;BTNL9,missense_variant,p.Leu106Met,ENST00000327705,;BTNL9,missense_variant,p.Leu37Met,ENST00000515271,;BTNL9,missense_variant,p.Leu106Met,ENST00000376842,;BTNL9,upstream_gene_variant,,ENST00000511589,;BTNL9,downstream_gene_variant,,ENST00000513424,;BTNL9,missense_variant,p.Leu106Met,ENST00000491209,;BTNL9,upstream_gene_variant,,ENST00000511056,;BTNL9,upstream_gene_variant,,ENST00000509395,;	547	176	142	SUCCESS
C5orf38	153571	.	GRCh37	5	2752404	2752404	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	25	203	0	ENST00000334000.3:c.26T>C	p.Phe9Ser	p.F9S	ENST00000334000	NM_178569.2	9	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS34131.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTTCCTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000334267	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000334000	Transcript	.	.	ENSG00000186493	24226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	CEI_HUMAN	C5orf38	HGNC	B7ZL86_HUMAN	.	UPI0000160548	SNV	C5orf38,missense_variant,p.Phe9Ser,ENST00000334000,;C5orf38,missense_variant,p.Phe9Ser,ENST00000457752,;C5orf38,missense_variant,p.Phe9Ser,ENST00000397835,;C5orf38,missense_variant,p.Phe9Ser,ENST00000505778,;C5orf38,missense_variant,p.Phe9Ser,ENST00000515640,;IRX2,upstream_gene_variant,,ENST00000382611,;IRX2,upstream_gene_variant,,ENST00000302057,;IRX2,intron_variant,,ENST00000502957,;C5orf38,missense_variant,p.Phe9Ser,ENST00000503940,;C5orf38,missense_variant,p.Phe9Ser,ENST00000505106,;	143	203	135	SUCCESS
EGFLAM	133584	.	GRCh37	5	38431349	38431349	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	9	72	0	ENST00000354891.3:c.2125T>C	p.Leu709=	p.L709=	ENST00000354891	NM_001205301.1	709	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS56363.1	2125	MUTECT|MUSE|VARSCANS	.	GAATCTTACAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000346964	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000397202,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;EGFLAM-AS1,upstream_gene_variant,,ENST00000508986,;CTD-2108O9.4,upstream_gene_variant,,ENST00000513087,;	2471	72	117	SUCCESS
PDE4D	5144	.	GRCh37	5	59189504	59189504	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	16	244	0	ENST00000340635.6:c.-55C>G		p.*19*	ENST00000340635	NM_001104631.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47213.1	.	MUTECT|MUSE	.	GGCCCGAGCGC	NONE	.	.	.	.	.	ENSP00000345502	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,5_prime_UTR_variant,,ENST00000340635,;PDE4D,intron_variant,,ENST00000546160,;PDE4D,intron_variant,,ENST00000502484,;PDE4D,intron_variant,,ENST00000512069,;PDE4D,upstream_gene_variant,,ENST00000405053,;PDE4D,intron_variant,,ENST00000514231,;	122	244	123	SUCCESS
RASGRF2	5924	.	GRCh37	5	80409593	80409593	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148833634	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	73	0	ENST00000265080.4:c.2324C>T	p.Ala775Val	p.A775V	ENST00000265080	NM_006909.2	775	gCg/gTg	0	T:0.0018	T:0.0008	.	T:0	.	T	A/V	protein_coding	YES	CCDS4052.1	2324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGCGTCTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187,Low_complexity_(Seg):seg	T:0.002	T:0	ENSP00000265080	T:0	15/27	.	.	.	.	.	.	.	.	rs148833634	15/27	common_in_exac	ENST00000265080	Transcript	.	T:0.0006	ENSG00000113319	9876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	T:0	deleterious_low_confidence(0.05)	.	RGRF2_HUMAN	RASGRF2	HGNC	Q68DX5_HUMAN	.	UPI0000047ABF	SNV	RASGRF2,missense_variant,p.Ala775Val,ENST00000265080,;CTD-2193P3.2,non_coding_transcript_exon_variant,,ENST00000508993,;RASGRF2,missense_variant,p.Ala775Val,ENST00000503795,;	2391	73	117	SUCCESS
GPR98	0	.	GRCh37	5	90449149	90449149	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	11	90	0	ENST00000405460.2:c.18736C>T	p.Gln6246Ter	p.Q6246*	ENST00000405460	NM_032119.3	6246	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47246.1	18736	RADIA|MUTECT|MUSE	.	ATGGCCAGGGG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	89/90	.	.	.	.	.	.	.	.	.	89/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,stop_gained,p.Gln6246Ter,ENST00000405460,;GPR98,stop_gained,p.Gln1907Ter,ENST00000425867,;	18832	90	109	SUCCESS
FAM81B	153643	.	GRCh37	5	94749835	94749835	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	6	88	0	ENST00000283357.5:c.478C>T	p.Leu160=	p.L160=	ENST00000283357	NM_152548.2	160	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43341.1	478	MUTECT|MUSE	.	AGTTACTGGAA	NONE	.	.	hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF3	.	.	ENSP00000283357	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000283357	Transcript	.	.	ENSG00000153347	26335	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA81B_HUMAN	FAM81B	HGNC	.	.	UPI000045731A	SNV	FAM81B,synonymous_variant,p.%3D,ENST00000283357,;FAM81B,downstream_gene_variant,,ENST00000510458,;FAM81B,synonymous_variant,p.%3D,ENST00000513529,;FAM81B,synonymous_variant,p.%3D,ENST00000507832,;FAM81B,synonymous_variant,p.%3D,ENST00000503361,;FAM81B,3_prime_UTR_variant,,ENST00000503099,;	524	88	132	SUCCESS
PRDM13	59336	.	GRCh37	6	100057084	100057084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	118	0	ENST00000369215.4:c.298G>A	p.Asp100Asn	p.D100N	ENST00000369215	NM_021620.3	100	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43487.1	298	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGAGACGTC	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228,Gene3D:2.170.270.10,Superfamily_domains:SSF82199	.	.	ENSP00000358217	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000369215	Transcript	.	.	ENSG00000112238	13998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.394)	.	deleterious(0.05)	.	PRD13_HUMAN	PRDM13	HGNC	Q7Z5E7_HUMAN	.	UPI000047099D	SNV	PRDM13,missense_variant,p.Asp100Asn,ENST00000369215,;PRDM13,missense_variant,p.Arg109Lys,ENST00000369214,;	603	118	108	SUCCESS
DSE	29940	.	GRCh37	6	116747751	116747751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	56	0	ENST00000331677.3:c.431C>T	p.Ala144Val	p.A144V	ENST00000331677		144	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5107.1	431	MUTECT|MUSE	.	AGATGCTCCTT	NONE	.	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532,Superfamily_domains:SSF48230	.	.	ENSP00000332151	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.05)	.	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,missense_variant,p.Ala144Val,ENST00000452085,;DSE,missense_variant,p.Ala144Val,ENST00000430252,;DSE,missense_variant,p.Ala144Val,ENST00000331677,;DSE,missense_variant,p.Ala163Val,ENST00000537543,;DSE,missense_variant,p.Ala144Val,ENST00000359564,;DSE,3_prime_UTR_variant,,ENST00000540275,;DSE,non_coding_transcript_exon_variant,,ENST00000606265,;	875	56	59	SUCCESS
GINM1	116254	.	GRCh37	6	149903658	149903658	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	35	189	0	ENST00000367419.5:c.800T>G	p.Leu267Trp	p.L267W	ENST00000367419	NM_138785.3	267	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS5216.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTGAACA	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000356389	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000367419	Transcript	.	.	ENSG00000055211	21074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	GINM1_HUMAN	GINM1	HGNC	.	.	UPI0000049E0C	SNV	GINM1,missense_variant,p.Leu267Trp,ENST00000367419,;GINM1,downstream_gene_variant,,ENST00000433539,;	921	189	162	SUCCESS
KIF25	3834	.	GRCh37	6	168434666	168434666	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	15	197	0	ENST00000354419.2:c.272A>T	p.Gln91Leu	p.Q91L	ENST00000354419	NM_030615.2	91	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5305.1	272	RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGAGTG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF327,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000388878	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.407)	.	tolerated(0.11)	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,missense_variant,p.Gln91Leu,ENST00000351261,;KIF25,missense_variant,p.Gln91Leu,ENST00000354419,;KIF25,missense_variant,p.Gln91Leu,ENST00000443060,;KIF25,upstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000515361,;KIF25,non_coding_transcript_exon_variant,,ENST00000504593,;	663	197	134	SUCCESS
PRSS16	10279	.	GRCh37	6	27216906	27216906	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	48	0	ENST00000230582.3:c.365G>T	p.Trp122Leu	p.W122L	ENST00000230582	NM_005865.3	122	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS4623.1	365	MUTECT|MUSE	.	AGCCTGGGGCG	NONE	.	.	hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474	.	.	ENSP00000230582	.	4/12	.	.	.	.	.	.	.	.	COSM3623595	4/12	PASS	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0)	.	tolerated(0.25)	1	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,missense_variant,p.Trp14Leu,ENST00000485993,;PRSS16,missense_variant,p.Trp14Leu,ENST00000475106,;PRSS16,missense_variant,p.Trp122Leu,ENST00000230582,;PRSS16,intron_variant,,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,missense_variant,p.Trp122Leu,ENST00000470870,;PRSS16,missense_variant,p.Gly89Trp,ENST00000468930,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000454665,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000462664,;	380	48	36	SUCCESS
HLA-DQA1	3117	.	GRCh37	6	32605204	32605204	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs200004305	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	39	0	ENST00000343139.5:c.-32A>C		p.*11*	ENST00000343139	NM_002122.3			0	.	G:0.0772	.	G:0.0591	.	C	.	protein_coding	YES	CCDS4752.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAACACCA	NONE	byFrequency|byCluster|by1000G	.	.	G:0.0526	.	ENSP00000339398	G:0.0348	1/5	.	.	.	.	.	.	.	.	rs200004305	1/5	PASS	ENST00000343139	Transcript	.	G:0.0541	ENSG00000196735	4942	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0409	.	.	DQA1_HUMAN	HLA-DQA1	HGNC	Q67AI2_HUMAN,Q67AI1_HUMAN,Q67AI0_HUMAN,Q67AH9_HUMAN,Q67AH8_HUMAN,Q67AH7_HUMAN,Q67AH6_HUMAN,Q67AC4_HUMAN,Q67AC3_HUMAN,Q67AC2_HUMAN,Q67AC1_HUMAN,Q67AC0_HUMAN,Q67AB9_HUMAN,Q67AB8_HUMAN,Q67AB7_HUMAN,Q67AB6_HUMAN,Q67AB5_HUMAN,Q67AA7_HUMAN,Q67AA6_HUMAN,Q67AA5_HUMAN,Q67A93_HUMAN,Q67A92_HUMAN,Q30066_HUMAN,Q30065_HUMAN,O19703_HUMAN,F6UB03_HUMAN	.	UPI0000140E19	SNV	HLA-DQA1,5_prime_UTR_variant,,ENST00000374949,;HLA-DQA1,5_prime_UTR_variant,,ENST00000496318,;HLA-DQA1,5_prime_UTR_variant,,ENST00000395363,;HLA-DQA1,5_prime_UTR_variant,,ENST00000422863,;HLA-DQA1,5_prime_UTR_variant,,ENST00000343139,;HLA-DQA1,5_prime_UTR_variant,,ENST00000482745,;HLA-DQA1,upstream_gene_variant,,ENST00000460633,;	71	39	46	SUCCESS
CPNE5	57699	.	GRCh37	6	36710255	36710255	+	synonymous_variant	Silent	SNP	G	G	A	rs1037358771	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	63	0	ENST00000244751.2:c.1572C>T	p.Pro524=	p.P524=	ENST00000244751	NM_020939.1	524	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4825.1	1572	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAAGGGTAC	NONE	.	.	hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF8,PROSITE_profiles:PS50234	.	.	ENSP00000244751	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000244751	Transcript	.	.	ENSG00000124772	2318	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CPNE5_HUMAN	CPNE5	HGNC	Q7Z6C8_HUMAN,Q658T3_HUMAN	.	UPI0000127C15	SNV	CPNE5,synonymous_variant,p.%3D,ENST00000244751,;CPNE5,synonymous_variant,p.%3D,ENST00000393189,;CPNE5,non_coding_transcript_exon_variant,,ENST00000459703,;CPNE5,downstream_gene_variant,,ENST00000493411,;RP3-431A14.4,downstream_gene_variant,,ENST00000494644,;	2197	63	30	SUCCESS
DNAH8	1769	.	GRCh37	6	38840728	38840728	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	94	0	ENST00000359357.3:c.6633G>T	p.Trp2211Cys	p.W2211C	ENST00000359357		2211	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	.	6633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGATTGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	49/91	.	.	.	.	.	.	.	.	COSM1078855,COSM1078856	49/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	.	1,1	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Trp2211Cys,ENST00000359357,;DNAH8,missense_variant,p.Trp2416Cys,ENST00000327475,;DNAH8,missense_variant,p.Trp2175Cys,ENST00000441566,;DNAH8,missense_variant,p.Trp2428Cys,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000394393,;	6887	94	131	SUCCESS
EYS	346007	.	GRCh37	6	65301778	65301778	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	53	0	ENST00000370616.2:c.3982A>T	p.Ile1328Phe	p.I1328F	ENST00000370616		1328	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS47445.1	3982	RADIA|MUTECT|MUSE|VARSCANS	.	GACAATCAGTT	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	tolerated(0.12)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Ile1328Phe,ENST00000370616,;EYS,missense_variant,p.Ile1328Phe,ENST00000370621,;EYS,missense_variant,p.Ile1328Phe,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000330816,;	4520	53	91	SUCCESS
COL12A1	1303	.	GRCh37	6	75904566	75904566	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	59	0	ENST00000322507.8:c.171A>T	p.Ile57=	p.I57=	ENST00000322507	NM_004370.5	57	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS43482.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTTATTCT	NONE	.	.	PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	3/66	.	.	.	.	.	.	.	.	.	3/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;	481	59	90	SUCCESS
ME1	4199	.	GRCh37	6	84140738	84140738	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	73	0	ENST00000369705.3:c.-65C>G		p.*22*	ENST00000369705	NM_002395.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34492.1	.	MUTECT|MUSE	.	CGGCGGATGCT	NONE	.	.	.	.	.	ENSP00000358719	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000369705	Transcript	.	.	ENSG00000065833	6983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAOX_HUMAN	ME1	HGNC	F5H4W0_HUMAN,B4DZ70_HUMAN	.	UPI000000127E	SNV	ME1,5_prime_UTR_variant,,ENST00000541327,;ME1,5_prime_UTR_variant,,ENST00000369705,;ME1,5_prime_UTR_variant,,ENST00000543031,;	53	73	46	SUCCESS
SNAP91	9892	.	GRCh37	6	84269864	84269864	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1417622047	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	31	155	0	ENST00000369694.2:c.2590A>G	p.Met864Val	p.M864V	ENST00000369694	NM_001242792.1	864	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS47455.1	2590	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATCATGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.448)	.	tolerated(0.05)	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,missense_variant,p.Met864Val,ENST00000439399,;SNAP91,missense_variant,p.Met859Val,ENST00000195649,;SNAP91,missense_variant,p.Met205Val,ENST00000523448,;SNAP91,missense_variant,p.Met557Val,ENST00000437520,;SNAP91,missense_variant,p.Met859Val,ENST00000521485,;SNAP91,missense_variant,p.Met834Val,ENST00000520302,;SNAP91,missense_variant,p.Met864Val,ENST00000428679,;SNAP91,missense_variant,p.Met557Val,ENST00000520213,;SNAP91,missense_variant,p.Met864Val,ENST00000369694,;SNAP91,missense_variant,p.Met864Val,ENST00000521743,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	2907	155	233	SUCCESS
MUC17	140453	.	GRCh37	7	100701304	100701304	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	52	0	ENST00000306151.4:c.13461G>C	p.Gln4487His	p.Q4487H	ENST00000306151	NM_001040105.1	4487	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS34711.1	13461	MUTECT|MUSE	.	CCTCAGGTAAT	NONE	.	.	.	.	.	ENSP00000302716	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Gln4487His,ENST00000306151,;RN7SKP54,upstream_gene_variant,,ENST00000410704,;MUC17,3_prime_UTR_variant,,ENST00000379439,;MUC17,downstream_gene_variant,,ENST00000497859,;	13525	52	72	SUCCESS
TFEC	22797	.	GRCh37	7	115581160	115581160	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	13	0	ENST00000265440.7:c.664-175T>G		p.*222*	ENST00000265440	NM_012252.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5762.1	.	MUTECT|MUSE	.	ATGAAAAATAA	NONE	.	.	.	.	.	ENSP00000265440	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265440	Transcript	.	.	ENSG00000105967	11754	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TFEC_HUMAN	TFEC	HGNC	Q75MG2_HUMAN,Q75KY0_HUMAN	.	UPI000006CC81	SNV	TFEC,3_prime_UTR_variant,,ENST00000393485,;TFEC,intron_variant,,ENST00000457268,;TFEC,intron_variant,,ENST00000320239,;TFEC,intron_variant,,ENST00000265440,;TFEC,downstream_gene_variant,,ENST00000484212,;TFEC,intron_variant,,ENST00000462828,;	.	13	81	SUCCESS
SMO	6608	.	GRCh37	7	128850865	128850865	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762755297	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	167	0	ENST00000249373.3:c.1712A>G	p.Lys571Arg	p.K571R	ENST00000249373	NM_005631.4	571	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5811.1	1712	MUTECT|MUSE	.	TGCCAAGGCCT	NONE	.	.	hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF35	.	.	ENSP00000249373	.	10/12	.	.	.	.	.	.	.	.	rs762755297	10/12	PASS	ENST00000249373	Transcript	.	.	ENSG00000128602	11119	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.17)	.	tolerated(0.15)	.	SMO_HUMAN	SMO	HGNC	A4D1K5_HUMAN	.	UPI0000050447	SNV	SMO,missense_variant,p.Lys571Arg,ENST00000249373,;RP11-286H14.8,intron_variant,,ENST00000466717,;SMO,missense_variant,p.Lys34Arg,ENST00000475779,;SMO,3_prime_UTR_variant,,ENST00000462420,;SMO,downstream_gene_variant,,ENST00000495998,;	1992	167	99	SUCCESS
ACTR3B	57180	.	GRCh37	7	152457013	152457013	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	43	0	ENST00000256001.8:c.44+2T>A		p.X15_splice	ENST00000256001	NM_020445.5	15		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5934.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGTAAGAG	NONE	.	.	.	.	.	ENSP00000256001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256001	Transcript	.	.	ENSG00000133627	17256	.	.	HIGH	1/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARP3B_HUMAN	ACTR3B	HGNC	C9J580_HUMAN,B3KM55_HUMAN	.	UPI0000073AC7	SNV	ACTR3B,splice_donor_variant,,ENST00000537264,;ACTR3B,splice_donor_variant,,ENST00000397282,;ACTR3B,splice_donor_variant,,ENST00000377776,;ACTR3B,splice_donor_variant,,ENST00000256001,;RN7SL845P,downstream_gene_variant,,ENST00000484385,;	.	43	38	SUCCESS
ISPD	0	.	GRCh37	7	16460814	16460814	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	423	59	854	0	ENST00000407010.2:c.134A>C	p.Gln45Pro	p.Q45P	ENST00000407010	NM_001101426.3	45	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	.	134	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTTGCGGG	NONE	.	.	hmmpanther:PTHR19136,hmmpanther:PTHR19136:SF79	.	.	ENSP00000385478	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000407010	Transcript	.	.	ENSG00000214960	37276	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.33)	.	ISPD_HUMAN	ISPD	HGNC	.	.	UPI00015CFC06	SNV	ISPD,missense_variant,p.Gln45Pro,ENST00000407010,;ISPD,missense_variant,p.Gln45Pro,ENST00000399310,;	134	854	482	SUCCESS
NFE2L3	9603	.	GRCh37	7	26224237	26224237	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	13	162	0	ENST00000056233.3:c.919C>T	p.Gln307Ter	p.Q307*	ENST00000056233	NM_004289.6	307	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS5396.1	919	MUTECT|MUSE	.	TCAGCCAGGCT	NONE	.	.	hmmpanther:PTHR24411:SF8,hmmpanther:PTHR24411	.	.	ENSP00000056233	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000056233	Transcript	.	.	ENSG00000050344	7783	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NF2L3_HUMAN	NFE2L3	HGNC	.	.	UPI000007206C	SNV	NFE2L3,stop_gained,p.Gln307Ter,ENST00000056233,;NFE2L3,downstream_gene_variant,,ENST00000607375,;NFE2L3,non_coding_transcript_exon_variant,,ENST00000606261,;	1178	162	208	SUCCESS
HOXA2	3199	.	GRCh37	7	27142050	27142050	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	407	58	892	0	ENST00000222718.5:c.70T>A	p.Ser24Thr	p.S24T	ENST00000222718	NM_006735.3	24	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS5403.1	70	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGATGTCA	NONE	.	.	.	.	.	ENSP00000222718	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222718	Transcript	.	.	ENSG00000105996	5103	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	HXA2_HUMAN	HOXA2	HGNC	.	.	UPI0000049C49	SNV	HOXA2,missense_variant,p.Ser24Thr,ENST00000222718,;HOXA3,downstream_gene_variant,,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000396352,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;	381	892	466	SUCCESS
PDE1C	5137	.	GRCh37	7	31918662	31918662	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	63	0	ENST00000321453.7:c.372G>A	p.Lys124=	p.K124=	ENST00000321453	NM_001191059.1	124	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS55100.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCTTCTC	NONE	.	.	hmmpanther:PTHR11347:SF32,hmmpanther:PTHR11347,Pfam_domain:PF08499	.	.	ENSP00000379496	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,synonymous_variant,p.%3D,ENST00000396184,;PDE1C,synonymous_variant,p.%3D,ENST00000396193,;PDE1C,synonymous_variant,p.%3D,ENST00000396191,;PDE1C,synonymous_variant,p.%3D,ENST00000321453,;PDE1C,synonymous_variant,p.%3D,ENST00000396182,;PDE1C,downstream_gene_variant,,ENST00000396189,;PDE1C,non_coding_transcript_exon_variant,,ENST00000464881,;PDE1C,non_coding_transcript_exon_variant,,ENST00000482681,;	1146	63	60	SUCCESS
GLI3	2737	.	GRCh37	7	42011935	42011935	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	5	77	0	ENST00000395925.3:c.2103+1G>T		p.X701_splice	ENST00000395925	NM_000168.5	701		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5465.1	.	MUTECT|MUSE	.	ACATACCATTG	NONE	.	.	.	.	.	ENSP00000379258	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	HIGH	13/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,splice_donor_variant,,ENST00000395925,;GLI3,splice_donor_variant,,ENST00000479210,;GLI3,downstream_gene_variant,,ENST00000464291,;	.	77	109	SUCCESS
AZIN1	51582	.	GRCh37	8	103851904	103851904	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	241	12	222	0	ENST00000337198.5:c.250G>C	p.Gly84Arg	p.G84R	ENST00000337198	NM_148174.2	84	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS6295.1	250	MUTECT|MUSE	.	GGTTCCAAGAG	NONE	.	.	Prints_domain:PR01182,Prints_domain:PR01179,Superfamily_domains:SSF51419,Pfam_domain:PF02784,Gene3D:3.20.20.10,hmmpanther:PTHR11482:SF7,hmmpanther:PTHR11482	.	.	ENSP00000337180	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000337198	Transcript	.	.	ENSG00000155096	16432	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	AZIN1_HUMAN	AZIN1	HGNC	E5RJ16_HUMAN,E5RIB7_HUMAN	.	UPI00000722AD	SNV	AZIN1,missense_variant,p.Gly84Arg,ENST00000347770,;AZIN1,missense_variant,p.Gly84Arg,ENST00000337198,;AZIN1,missense_variant,p.Gly84Arg,ENST00000520402,;AZIN1,intron_variant,,ENST00000521536,;AZIN1,downstream_gene_variant,,ENST00000518353,;AZIN1,non_coding_transcript_exon_variant,,ENST00000522311,;AZIN1,downstream_gene_variant,,ENST00000518940,;AZIN1,upstream_gene_variant,,ENST00000523071,;	1414	222	254	SUCCESS
PENK	5179	.	GRCh37	8	57358254	57358254	+	intron_variant	Intron	SNP	T	T	G	rs747717615	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	78	0	ENST00000314922.3:c.138+121A>C		p.*46*	ENST00000314922	NM_006211.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6168.1	.	MUTECT|MUSE	.	GCCGCTGCGGC	NONE	.	.	.	.	.	ENSP00000324248	.	.	.	.	.	.	.	.	.	.	rs747717615	.	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,missense_variant,p.Ser87Arg,ENST00000518770,;PENK,intron_variant,,ENST00000314922,;PENK,intron_variant,,ENST00000451791,;PENK,intron_variant,,ENST00000518974,;PENK,intron_variant,,ENST00000523051,;PENK,intron_variant,,ENST00000517415,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000523274,;PENK,downstream_gene_variant,,ENST00000521153,;	.	78	36	SUCCESS
FABP4	2167	.	GRCh37	8	82391106	82391106	+	synonymous_variant	Silent	SNP	T	T	C	rs756886921	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	13	59	0	ENST00000256104.4:c.393A>G	p.Arg131=	p.R131=	ENST00000256104	NM_001442.2	131	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS6230.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCTCTCTC	NONE	.	.	Prints_domain:PR00178,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955:SF71,hmmpanther:PTHR11955	.	.	ENSP00000256104	.	4/4	.	.	.	.	.	.	.	.	rs756886921	4/4	PASS	ENST00000256104	Transcript	.	.	ENSG00000170323	3559	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FABP4_HUMAN	FABP4	HGNC	E7DVW4_HUMAN	.	UPI000013CEEC	SNV	FABP4,synonymous_variant,p.%3D,ENST00000256104,;RP11-157I4.4,intron_variant,,ENST00000524085,;FABP4,non_coding_transcript_exon_variant,,ENST00000518669,;FABP4,3_prime_UTR_variant,,ENST00000522659,;FABP4,non_coding_transcript_exon_variant,,ENST00000521734,;	489	59	98	SUCCESS
CPNE3	8895	.	GRCh37	8	87557040	87557040	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	27	0	ENST00000198765.4:c.706C>G	p.Leu236Val	p.L236V	ENST00000198765		236	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS6243.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAACTGAAA	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR10857:SF22,hmmpanther:PTHR10857	.	.	ENSP00000430934	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000521271	Transcript	.	.	ENSG00000085719	2316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	deleterious(0.03)	.	CPNE3_HUMAN	CPNE3	HGNC	E5RJ85_HUMAN,E5RHZ0_HUMAN,E5RG97_HUMAN,E5RG68_HUMAN,E5RFT7_HUMAN	.	UPI0000127C13	SNV	CPNE3,missense_variant,p.Leu125Val,ENST00000517391,;CPNE3,missense_variant,p.Leu236Val,ENST00000198765,;CPNE3,missense_variant,p.Leu236Val,ENST00000521271,;CPNE3,downstream_gene_variant,,ENST00000523072,;CPNE3,non_coding_transcript_exon_variant,,ENST00000517862,;CPNE3,upstream_gene_variant,,ENST00000517490,;CPNE3,upstream_gene_variant,,ENST00000517354,;	868	27	47	SUCCESS
NR5A1	2516	.	GRCh37	9	127265483	127265483	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1564153707	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	92	0	ENST00000373588.4:c.119C>T	p.Thr40Met	p.T40M	ENST00000373588	NM_004959.4	40	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS6856.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGTGCGC	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24086:SF24,hmmpanther:PTHR24086,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,PIRSF_domain:PIRSF002530,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000362690	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000373588	Transcript	.	.	ENSG00000136931	7983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STF1_HUMAN	NR5A1	HGNC	Q9H3V4_HUMAN,Q6QGY2_HUMAN,Q5T6F6_HUMAN,F1D8R8_HUMAN	.	UPI00001360E5	SNV	NR5A1,missense_variant,p.Thr40Met,ENST00000455734,;NR5A1,missense_variant,p.Thr40Met,ENST00000373588,;NR5A1,upstream_gene_variant,,ENST00000373587,;	316	92	41	SUCCESS
OLFML2A	169611	.	GRCh37	9	127570169	127570169	+	synonymous_variant	Silent	SNP	C	C	T	rs756535506	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	163	0	ENST00000373580.3:c.1278C>T	p.Asp426=	p.D426=	ENST00000373580	NM_182487.2	426	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS6857.2	1278	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGACGACAG	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000362682	.	7/8	.	.	.	.	.	.	.	.	rs756535506	7/8	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,synonymous_variant,p.%3D,ENST00000288815,;OLFML2A,synonymous_variant,p.%3D,ENST00000373580,;OLFML2A,downstream_gene_variant,,ENST00000331715,;	1278	163	78	SUCCESS
SPTAN1	6709	.	GRCh37	9	131339545	131339545	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	71	0	ENST00000372731.4:c.923A>G	p.Glu308Gly	p.E308G	ENST00000372731	NM_003127.3	308	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS48036.1	923	RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGAAGACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	7/57	.	.	.	.	.	.	.	.	.	7/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	tolerated(0.12)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Glu308Gly,ENST00000372739,;SPTAN1,missense_variant,p.Glu308Gly,ENST00000358161,;SPTAN1,missense_variant,p.Glu308Gly,ENST00000372731,;SPTAN1,upstream_gene_variant,,ENST00000472211,;	1033	71	96	SUCCESS
TSC1	7248	.	GRCh37	9	135779815	135779815	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	8	94	0	ENST00000298552.3:c.2024A>G	p.Asp675Gly	p.D675G	ENST00000298552	NM_001162426.1	675	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS6956.1	2024	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTCGACA	NONE	.	.	hmmpanther:PTHR15154,Pfam_domain:PF04388	.	.	ENSP00000298552	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0.04)	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,missense_variant,p.Asp675Gly,ENST00000298552,;TSC1,missense_variant,p.Asp624Gly,ENST00000545250,;TSC1,missense_variant,p.Asp675Gly,ENST00000440111,;	2246	94	92	SUCCESS
ABO	28	.	GRCh37	9	136133489	136133489	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	54	0	ENST00000453660.2:n.249G>T		p.X83_splice	ENST00000453660		83		0	.	.	.	.	.	A	.	3prime_overlapping_ncrna	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGGTGT	NONE	.	2539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000606717	Transcript	.	.	ENSG00000271875	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-430N14.4	Clone_based_vega_gene	.	.	.	SNV	RP11-430N14.4,upstream_gene_variant,,ENST00000606717,;ABO,splice_region_variant,,ENST00000538324,;ABO,splice_region_variant,,ENST00000453660,;	.	54	23	SUCCESS
CDKN2B	1030	.	GRCh37	9	22008820	22008820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	163	0	ENST00000276925.6:c.133C>A	p.Arg45Ser	p.R45S	ENST00000276925	NM_004936.3	45	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS6512.1	133	MUTECT|MUSE	.	GAAACGGTTGA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF31,hmmpanther:PTHR24144,Gene3D:1.25.40.20	.	.	ENSP00000276925	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000276925	Transcript	.	.	ENSG00000147883	1788	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.53)	.	CDN2B_HUMAN	CDKN2B	HGNC	Q9UM95_HUMAN,K7PPU3_HUMAN	.	UPI000012743C	SNV	CDKN2B,missense_variant,p.Arg45Ser,ENST00000276925,;CDKN2B,missense_variant,p.Arg45Ser,ENST00000380142,;CDKN2B,missense_variant,p.Arg45Ser,ENST00000539462,;CDKN2B-AS1,intron_variant,,ENST00000584020,;CDKN2B-AS1,intron_variant,,ENST00000584816,;CDKN2B-AS1,intron_variant,,ENST00000585267,;CDKN2B-AS1,intron_variant,,ENST00000582301,;CDKN2B-AS1,intron_variant,,ENST00000577551,;CDKN2B-AS1,intron_variant,,ENST00000584637,;CDKN2B-AS1,intron_variant,,ENST00000582072,;CDKN2B-AS1,intron_variant,,ENST00000584351,;CDKN2B-AS1,intron_variant,,ENST00000455933,;CDKN2B-AS1,intron_variant,,ENST00000581051,;CDKN2B-AS1,intron_variant,,ENST00000580467,;CDKN2B-AS1,intron_variant,,ENST00000428597,;CDKN2B-AS1,intron_variant,,ENST00000580576,;CDKN2B-AS1,intron_variant,,ENST00000583719,;CDKN2B-AS1,intron_variant,,ENST00000468603,;RP11-145E5.5,intron_variant,,ENST00000404796,;CDKN2B,upstream_gene_variant,,ENST00000579591,;UBA52P6,upstream_gene_variant,,ENST00000399822,;	543	163	90	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84606758	84606758	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201640408	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	21	144	0	ENST00000344803.2:c.1373T>C	p.Ile458Thr	p.I458T	ENST00000344803	NM_001001670.2	458	aTt/aCt	0	C:0.0013	C:0.0008	.	C:0	.	C	I/T	protein_coding	YES	CCDS47986.1	1373	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATTGCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	C:0	C:0.0001	ENSP00000341988	C:0	4/4	.	.	.	.	.	.	.	.	rs201640408	4/4	PASS	ENST00000344803	Transcript	.	C:0.0002	ENSG00000214929	37283	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	C:0	tolerated(0.37)	.	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,missense_variant,p.Ile458Thr,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	1420	144	171	SUCCESS
TENM1	10178	.	GRCh37	X	123526164	123526164	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	39	0	ENST00000371130.3:c.5405A>T	p.Asp1802Val	p.D1802V	ENST00000371130	NM_014253.3	1802	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS55488.1	5426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGATCAAAA	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	28/32	.	.	.	.	.	.	.	.	.	28/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Asp1809Val,ENST00000422452,;TENM1,missense_variant,p.Asp1802Val,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	5490	39	63	SUCCESS
MAGEB1	4112	.	GRCh37	X	30261926	30261926	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	45	189	0	ENST00000378981.3:c.-249+7T>C		p.X83_splice	ENST00000378981	NM_002363.4	83		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14222.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATTCTTTA	NONE	.	.	.	.	.	ENSP00000368264	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378981	Transcript	.	.	ENSG00000214107	6808	.	.	LOW	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGB1_HUMAN	MAGEB1	HGNC	.	.	UPI000012F053	SNV	MAGEB1,splice_region_variant,,ENST00000397550,;MAGEB1,splice_region_variant,,ENST00000378981,;MAGEB4,3_prime_UTR_variant,,ENST00000378982,;MAGEB1,upstream_gene_variant,,ENST00000397548,;	.	189	187	SUCCESS
TIMP1	7076	.	GRCh37	X	47444779	47444779	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	43	222	0	ENST00000218388.4:c.328+49C>T		p.*110*	ENST00000218388	NM_003254.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14281.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCGCGGC	NONE	.	.	.	.	.	ENSP00000218388	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000218388	Transcript	.	.	ENSG00000102265	11820	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIMP1_HUMAN	TIMP1	HGNC	Q6FGX5_HUMAN,Q5H9A7_HUMAN	.	UPI00001135B1	SNV	TIMP1,missense_variant,p.Arg14Cys,ENST00000445623,;TIMP1,missense_variant,p.Ala126Val,ENST00000456754,;TIMP1,missense_variant,p.Arg50Cys,ENST00000377018,;TIMP1,intron_variant,,ENST00000377017,;SYN1,intron_variant,,ENST00000340666,;SYN1,intron_variant,,ENST00000295987,;TIMP1,intron_variant,,ENST00000218388,;TIMP1,downstream_gene_variant,,ENST00000441738,;MIR4769,upstream_gene_variant,,ENST00000584126,;	.	222	152	SUCCESS
TAF1	6872	.	GRCh37	X	70617187	70617187	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	36	202	0	ENST00000373790.4:c.3488G>A	p.Arg1163His	p.R1163H	ENST00000373790	NM_004606.3	1163	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14412.1	3551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGCTGTC	SITE|p.R1163H|c.3488G>A|3,SITE|p.R1184H|c.3551G>A|3	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	23/38	.	.	.	.	.	.	.	.	COSM1124901,COSM1155470,COSM3356020	23/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.013)	.	deleterious(0.02)	1,1,1	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.Arg1163His,ENST00000373790,;TAF1,missense_variant,p.Arg1163His,ENST00000449580,;TAF1,missense_variant,p.Arg1184His,ENST00000276072,;TAF1,missense_variant,p.Arg74His,ENST00000483985,;TAF1,missense_variant,p.Arg1184His,ENST00000423759,;	3561	202	165	SUCCESS
PGK1	5230	.	GRCh37	X	77359873	77359873	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	47	0	ENST00000373316.4:c.36G>A	p.Leu12=	p.L12=	ENST00000373316	NM_000291.3	12	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14438.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGGACGT	NONE	.	.	HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF3,Gene3D:3.40.50.1260,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748	.	.	ENSP00000362413	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000373316	Transcript	.	.	ENSG00000102144	8896	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGK1_HUMAN	PGK1	HGNC	B7Z7A9_HUMAN,B4DHM5_HUMAN	.	UPI00000727EE	SNV	PGK1,synonymous_variant,p.%3D,ENST00000373316,;PGK1,synonymous_variant,p.%3D,ENST00000442431,;PGK1,upstream_gene_variant,,ENST00000537456,;PGK1,intron_variant,,ENST00000491291,;PGK1,intron_variant,,ENST00000477335,;	203	47	37	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17363249	17363249	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	28	212	0	ENST00000377602.4:c.825del	p.Asn276ThrfsTer29	p.N276Tfs*29	ENST00000377602	NM_001004470.1	275	gcC/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS31158.1	825	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTGTTGGCCCT	NONE	.	.	hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000366827	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	deletion	ST8SIA6,frameshift_variant,p.Asn276ThrfsTer29,ENST00000377602,;ST8SIA6,frameshift_variant,p.Asn97ThrfsTer28,ENST00000440449,;	900	212	225	SUCCESS
BTAF1	9044	.	GRCh37	10	93751886	93751886	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	102	0	ENST00000265990.6:c.2865A>T	p.Ser955=	p.S955=	ENST00000265990	NM_003972.2	955	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7419.1	2865	MUTECT|MUSE	.	ACCTCAGAAAA	NONE	.	.	Pfam_domain:PF12054,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	21/38	.	.	.	.	.	.	.	.	.	21/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,synonymous_variant,p.%3D,ENST00000265990,;BTAF1,upstream_gene_variant,,ENST00000544642,;BTAF1,downstream_gene_variant,,ENST00000471217,;	3173	102	80	SUCCESS
MYOF	26509	.	GRCh37	10	95191180	95191180	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	133	0	ENST00000359263.4:c.330A>G	p.Lys110=	p.K110=	ENST00000359263	NM_013451.3	110	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS41551.1	330	MUTECT|MUSE	.	TGCCCTTTTTC	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000352208	.	4/54	.	.	.	.	.	.	.	.	.	4/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,synonymous_variant,p.%3D,ENST00000371502,;MYOF,synonymous_variant,p.%3D,ENST00000358334,;MYOF,synonymous_variant,p.%3D,ENST00000371489,;MYOF,synonymous_variant,p.%3D,ENST00000371501,;MYOF,synonymous_variant,p.%3D,ENST00000371488,;MYOF,synonymous_variant,p.%3D,ENST00000359263,;MYOF,non_coding_transcript_exon_variant,,ENST00000488645,;	330	133	65	SUCCESS
OAF	220323	.	GRCh37	11	120082155	120082155	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	142	0	ENST00000328965.4:c.168C>T	p.Ser56=	p.S56=	ENST00000328965	NM_178507.2	56	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8430.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCATCAG	NONE	.	.	hmmpanther:PTHR13423,hmmpanther:PTHR13423:SF2,Pfam_domain:PF14941	.	.	ENSP00000332613	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000328965	Transcript	.	.	ENSG00000184232	28752	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OAF_HUMAN	OAF	HGNC	E9PJ29_HUMAN	.	UPI000000DC44	SNV	OAF,synonymous_variant,p.%3D,ENST00000328965,;OAF,5_prime_UTR_variant,,ENST00000531220,;OAF,upstream_gene_variant,,ENST00000534735,;	681	142	94	SUCCESS
OR6X1	390260	.	GRCh37	11	123624701	123624701	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1456308576	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	76	0	ENST00000327930.2:c.526T>C	p.Tyr176His	p.Y176H	ENST00000327930	NM_001005188.1	176	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31695.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTAGAAAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000333724	.	1/1	.	.	.	.	.	.	.	.	COSM1704740	1/1	PASS	ENST00000327930	Transcript	.	.	ENSG00000221931	14737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.021)	.	deleterious(0)	1	OR6X1_HUMAN	OR6X1	HGNC	.	.	UPI000004B1D5	SNV	OR6X1,missense_variant,p.Tyr176His,ENST00000327930,;	553	76	68	SUCCESS
OR8D4	338662	.	GRCh37	11	123777184	123777184	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	54	0	ENST00000321355.2:c.46G>A	p.Gly16Arg	p.G16R	ENST00000321355	NM_001005197.1	16	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31698.1	46	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGGATTA	NONE	.	.	hmmpanther:PTHR26452:SF21,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000325381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321355	Transcript	.	.	ENSG00000181518	14840	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR8D4_HUMAN	OR8D4	HGNC	.	.	UPI0000040A83	SNV	OR8D4,missense_variant,p.Gly16Arg,ENST00000321355,;	76	54	54	SUCCESS
MUC5B	727897	.	GRCh37	11	1268466	1268466	+	synonymous_variant	Silent	SNP	C	C	A	rs1407614963	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	78	236	0	ENST00000529681.1:c.10356C>A	p.Ala3452=	p.A3452=	ENST00000529681	NM_002458.2	3452	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44515.2	10356	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	ACGGCCACCAC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	10414	236	211	SUCCESS
SLC22A18AS	5003	.	GRCh37	11	2920711	2920711	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	83	0	ENST00000533594.1:c.221G>C	p.Gly74Ala	p.G74A	ENST00000533594	NM_007105.2	74	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS7739.1	221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCAGTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000433282	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000533594	Transcript	.	.	ENSG00000254827	10965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious_low_confidence(0)	.	BWR1B_HUMAN	SLC22A18AS	HGNC	.	.	UPI000013FBB8	SNV	SLC22A18AS,missense_variant,p.Gly74Ala,ENST00000533594,;SLC22A18AS,intron_variant,,ENST00000455942,;SLC22A18,upstream_gene_variant,,ENST00000347936,;SLC22A18,upstream_gene_variant,,ENST00000449793,;SLC22A18,upstream_gene_variant,,ENST00000380574,;SLC22A18,upstream_gene_variant,,ENST00000485423,;SLC22A18,upstream_gene_variant,,ENST00000312221,;SLC22A18,upstream_gene_variant,,ENST00000492567,;	718	83	94	SUCCESS
PRRG4	79056	.	GRCh37	11	32875007	32875007	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	112	0	ENST00000257836.3:c.615A>G	p.Pro205=	p.P205=	ENST00000257836	NM_024081.5	205	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7881.1	615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCACCATA	NONE	.	.	hmmpanther:PTHR24251:SF15,hmmpanther:PTHR24251	.	.	ENSP00000257836	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000257836	Transcript	.	.	ENSG00000135378	30799	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMG4_HUMAN	PRRG4	HGNC	.	.	UPI000013707A	SNV	PRRG4,synonymous_variant,p.%3D,ENST00000257836,;	868	112	89	SUCCESS
OR4S2	219431	.	GRCh37	11	55419121	55419121	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	77	0	ENST00000312422.2:c.742T>C	p.Phe248Leu	p.F248L	ENST00000312422	NM_001004059.2	248	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS31505.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTTTTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000310337	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312422	Transcript	.	.	ENSG00000174982	15183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	OR4S2_HUMAN	OR4S2	HGNC	.	.	UPI00001D77D2	SNV	OR4S2,missense_variant,p.Phe248Leu,ENST00000312422,;	742	77	117	SUCCESS
RELA	5970	.	GRCh37	11	65422301	65422301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	140	0	ENST00000406246.3:c.1204G>T	p.Ala402Ser	p.A402S	ENST00000406246	NM_001243985.1	402	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31609.1	1204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCTGATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF1	.	.	ENSP00000384273	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000406246	Transcript	.	.	ENSG00000173039	9955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.66)	.	TF65_HUMAN	RELA	HGNC	Q96F54_HUMAN,E9PRX2_HUMAN,E9PJZ9_HUMAN,E9PJR1_HUMAN,E9PI38_HUMAN	.	UPI000013ED68	SNV	RELA,missense_variant,p.Ala402Ser,ENST00000406246,;RELA,missense_variant,p.Ala413Ser,ENST00000532999,;RELA,missense_variant,p.Ala399Ser,ENST00000308639,;RELA,3_prime_UTR_variant,,ENST00000525693,;RELA,downstream_gene_variant,,ENST00000527749,;RELA,downstream_gene_variant,,ENST00000534558,;SIPA1,downstream_gene_variant,,ENST00000527525,;SIPA1,downstream_gene_variant,,ENST00000394224,;SIPA1,downstream_gene_variant,,ENST00000394227,;RELA,downstream_gene_variant,,ENST00000532879,;RELA,downstream_gene_variant,,ENST00000526257,;SIPA1,downstream_gene_variant,,ENST00000534313,;RELA,3_prime_UTR_variant,,ENST00000526283,;RELA,non_coding_transcript_exon_variant,,ENST00000531484,;RELA,downstream_gene_variant,,ENST00000529389,;RELA,downstream_gene_variant,,ENST00000531238,;RELA,downstream_gene_variant,,ENST00000533546,;RELA,downstream_gene_variant,,ENST00000525658,;SIPA1,downstream_gene_variant,,ENST00000531339,;SIPA1,downstream_gene_variant,,ENST00000528699,;RELA,downstream_gene_variant,,ENST00000526738,;SIPA1,downstream_gene_variant,,ENST00000529725,;RELA,downstream_gene_variant,,ENST00000529330,;RELA,downstream_gene_variant,,ENST00000527909,;	1466	140	100	SUCCESS
SELPLG	6404	.	GRCh37	12	109017847	109017847	+	synonymous_variant	Silent	SNP	C	C	T	rs749995403	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	127	0	ENST00000550948.1:c.237G>A	p.Glu79=	p.E79=	ENST00000550948		79	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS55881.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGACTCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17384:SF0,hmmpanther:PTHR17384	.	.	ENSP00000228463	.	2/2	.	.	.	.	.	.	.	.	rs749995403	2/2	PASS	ENST00000228463	Transcript	.	.	ENSG00000110876	10722	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELPL_HUMAN	SELPLG	HGNC	B4DT54_HUMAN	.	UPI0002065776	SNV	SELPLG,synonymous_variant,p.%3D,ENST00000388962,;SELPLG,synonymous_variant,p.%3D,ENST00000228463,;SELPLG,synonymous_variant,p.%3D,ENST00000550948,;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	462	127	78	SUCCESS
GUCY2C	2984	.	GRCh37	12	14839106	14839106	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	77	0	ENST00000261170.3:c.384C>T	p.Thr128=	p.T128=	ENST00000261170	NM_004963.3	128	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8664.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGGTGGA	NONE	.	.	hmmpanther:PTHR11920:SF41,hmmpanther:PTHR11920,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000261170	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000261170	Transcript	.	.	ENSG00000070019	4688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC2C_HUMAN	GUCY2C	HGNC	.	.	UPI000013D135	SNV	GUCY2C,synonymous_variant,p.%3D,ENST00000261170,;RP11-174G6.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,;	521	77	61	SUCCESS
ASUN	0	.	GRCh37	12	27059306	27059306	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	93	0	ENST00000261191.7:c.2010G>A	p.Gln670=	p.Q670=	ENST00000261191	NM_018164.2	670	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8708.1	2010	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCTGATG	NONE	.	.	Pfam_domain:PF10221,hmmpanther:PTHR12955,hmmpanther:PTHR12955:SF1	.	.	ENSP00000261191	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000261191	Transcript	.	.	ENSG00000064102	20174	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASUN_HUMAN	ASUN	HGNC	F8VRX9_HUMAN,F5H5W1_HUMAN,F5H457_HUMAN,B4DNK1_HUMAN	.	UPI0000044950	SNV	ASUN,synonymous_variant,p.%3D,ENST00000538155,;ASUN,synonymous_variant,p.%3D,ENST00000261191,;ASUN,synonymous_variant,p.%3D,ENST00000539625,;ASUN,non_coding_transcript_exon_variant,,ENST00000538016,;	2547	93	85	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43858526	43858526	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs745450789	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	52	0	ENST00000389420.3:c.1377C>A	p.Tyr459Ter	p.Y459*	ENST00000389420	NM_025003.3	459	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS31778.2	1377	RADIA|MUTECT|MUSE	.	TCCCCGTAACC	NONE	byFrequency	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000374071	.	10/39	.	.	.	.	.	.	.	.	rs745450789	10/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,stop_gained,p.Tyr459Ter,ENST00000553158,;ADAMTS20,stop_gained,p.Tyr459Ter,ENST00000389420,;	1377	52	54	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43858528	43858528	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	53	0	ENST00000389420.3:c.1375T>A	p.Tyr459Asn	p.Y459N	ENST00000389420	NM_025003.3	459	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS31778.2	1375	RADIA|MUTECT|MUSE	.	CCCGTAACCAG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000374071	.	10/39	.	.	.	.	.	.	.	.	.	10/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.105)	.	tolerated(0.12)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Tyr459Asn,ENST00000553158,;ADAMTS20,missense_variant,p.Tyr459Asn,ENST00000389420,;	1375	53	53	SUCCESS
HOXC5	3222	.	GRCh37	12	54426904	54426904	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs754800729	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	125	0	ENST00000312492.2:c.-3G>T		p.*1*	ENST00000312492	NM_018953.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8872.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGCCATG	NONE	.	.	.	.	.	ENSP00000309336	.	1/2	.	.	.	.	.	.	.	.	rs754800729	1/2	PASS	ENST00000312492	Transcript	.	.	ENSG00000172789	5127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC5_HUMAN	HOXC5	HGNC	.	.	UPI000012CF6F	SNV	HOXC5,5_prime_UTR_variant,,ENST00000312492,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC4,intron_variant,,ENST00000303406,;HOXC6,downstream_gene_variant,,ENST00000509328,;HOXC6,downstream_gene_variant,,ENST00000394331,;HOXC6,downstream_gene_variant,,ENST00000504315,;HOXC6,downstream_gene_variant,,ENST00000243108,;MIR615,upstream_gene_variant,,ENST00000384839,;RP11-834C11.14,intron_variant,,ENST00000512206,;HOXC4,upstream_gene_variant,,ENST00000507650,;	268	125	78	SUCCESS
HNRNPA1	3178	.	GRCh37	12	54675175	54675176	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	87	0	ENST00000340913.6:c.24dup	p.Glu9ArgfsTer16	p.E9Rfs*16	ENST00000340913	NM_002136.2	7	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS44909.1	21-22	VARSCANI*|PINDEL	.	TCTCCTAAAGA	NONE	.	.	hmmpanther:PTHR24012:SF309,hmmpanther:PTHR24012,Gene3D:3.30.70.330	.	.	ENSP00000341826	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000340913	Transcript	.	.	ENSG00000135486	5031	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROA1_HUMAN	HNRNPA1	HGNC	F8VYN5_HUMAN	.	UPI0000161BF2	insertion	HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000547708,;HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000546500,;HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000340913,;HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000330752,;HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000551702,;HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000547276,;HNRNPA1,frameshift_variant,p.Glu28ArgfsTer16,ENST00000548688,;HNRNPA1,5_prime_UTR_variant,,ENST00000550994,;HNRNPA1,upstream_gene_variant,,ENST00000550482,;CBX5,upstream_gene_variant,,ENST00000209875,;RP11-968A15.8,intron_variant,,ENST00000553061,;RP11-968A15.2,downstream_gene_variant,,ENST00000547177,;HNRNPA1,upstream_gene_variant,,ENST00000551803,;HNRNPA1,frameshift_variant,p.Glu9ArgfsTer16,ENST00000547566,;HNRNPA1,non_coding_transcript_exon_variant,,ENST00000547870,;HNRNPA1,upstream_gene_variant,,ENST00000551679,;HNRNPA1,upstream_gene_variant,,ENST00000551665,;	74-75	87	95	SUCCESS
DNAJC14	85406	.	GRCh37	12	56222310	56222310	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	38	154	0	ENST00000317269.3:c.133del	p.Thr45LeufsTer211	p.T45Lfs*211	ENST00000317269	NM_032364.5	45	Act/ct	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS8894.1	133	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCAGTCCCTG	NONE	.	.	.	.	.	ENSP00000350223	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000357606	Transcript	.	.	ENSG00000135392	24581	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DJC14_HUMAN	DNAJC14	HGNC	F8VYY5_HUMAN,F8VNT6_HUMAN	.	UPI000018CE63	deletion	DNAJC14,frameshift_variant,p.Thr45LeufsTer?,ENST00000547445,;DNAJC14,frameshift_variant,p.Thr45LeufsTer?,ENST00000546957,;DNAJC14,frameshift_variant,p.Thr45LeufsTer211,ENST00000317287,;DNAJC14,frameshift_variant,p.Thr45LeufsTer211,ENST00000357606,;DNAJC14,frameshift_variant,p.Thr45LeufsTer211,ENST00000317269,;RP11-762I7.5,upstream_gene_variant,,ENST00000546837,;TMEM198B,upstream_gene_variant,,ENST00000487582,;TMEM198B,upstream_gene_variant,,ENST00000508246,;TMEM198B,upstream_gene_variant,,ENST00000482378,;TMEM198B,upstream_gene_variant,,ENST00000478241,;TMEM198B,upstream_gene_variant,,ENST00000471276,;TMEM198B,upstream_gene_variant,,ENST00000484016,;	423	154	172	SUCCESS
CEP290	80184	.	GRCh37	12	88484582	88484582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	70	0	ENST00000552810.1:c.3496G>T	p.Val1166Phe	p.V1166F	ENST00000552810	NM_025114.3	1166	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS55858.1	3496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACTTGTC	NONE	.	.	hmmpanther:PTHR18879	.	.	ENSP00000448012	.	30/54	.	.	.	.	.	.	.	.	.	30/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Val1166Phe,ENST00000552810,;CEP290,missense_variant,p.Val226Phe,ENST00000397838,;CEP290,missense_variant,p.Val1168Phe,ENST00000309041,;CEP290,missense_variant,p.Val226Phe,ENST00000547691,;CEP290,downstream_gene_variant,,ENST00000604024,;	3840	71	48	SUCCESS
FGD6	55785	.	GRCh37	12	95611038	95611038	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	147	0	ENST00000343958.4:c.-22A>C		p.*8*	ENST00000343958	NM_018351.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31878.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTTCCCCG	NONE	.	.	.	.	.	ENSP00000344446	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,5_prime_UTR_variant,,ENST00000546711,;FGD6,5_prime_UTR_variant,,ENST00000549499,;FGD6,5_prime_UTR_variant,,ENST00000343958,;VEZT,upstream_gene_variant,,ENST00000551472,;VEZT,upstream_gene_variant,,ENST00000552821,;VEZT,upstream_gene_variant,,ENST00000549002,;VEZT,upstream_gene_variant,,ENST00000546445,;VEZT,upstream_gene_variant,,ENST00000261219,;VEZT,upstream_gene_variant,,ENST00000551311,;VEZT,upstream_gene_variant,,ENST00000436874,;VEZT,upstream_gene_variant,,ENST00000546365,;VEZT,upstream_gene_variant,,ENST00000547894,;VEZT,upstream_gene_variant,,ENST00000551356,;VEZT,upstream_gene_variant,,ENST00000546409,;VEZT,upstream_gene_variant,,ENST00000551902,;VEZT,upstream_gene_variant,,ENST00000550106,;VEZT,upstream_gene_variant,,ENST00000551695,;VEZT,upstream_gene_variant,,ENST00000552626,;VEZT,upstream_gene_variant,,ENST00000551746,;VEZT,upstream_gene_variant,,ENST00000549589,;VEZT,upstream_gene_variant,,ENST00000552031,;VEZT,upstream_gene_variant,,ENST00000553063,;VEZT,upstream_gene_variant,,ENST00000546398,;FGD6,5_prime_UTR_variant,,ENST00000451107,;VEZT,upstream_gene_variant,,ENST00000548371,;VEZT,upstream_gene_variant,,ENST00000547611,;VEZT,upstream_gene_variant,,ENST00000551039,;VEZT,upstream_gene_variant,,ENST00000549624,;VEZT,upstream_gene_variant,,ENST00000548455,;VEZT,upstream_gene_variant,,ENST00000547997,;VEZT,upstream_gene_variant,,ENST00000552660,;VEZT,upstream_gene_variant,,ENST00000548838,;VEZT,upstream_gene_variant,,ENST00000548245,;VEZT,upstream_gene_variant,,ENST00000550803,;VEZT,upstream_gene_variant,,ENST00000547484,;VEZT,upstream_gene_variant,,ENST00000551792,;VEZT,upstream_gene_variant,,ENST00000548822,;VEZT,upstream_gene_variant,,ENST00000551994,;VEZT,upstream_gene_variant,,ENST00000546557,;VEZT,upstream_gene_variant,,ENST00000549192,;	203	147	85	SUCCESS
SACS	26278	.	GRCh37	13	23910913	23910913	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	79	0	ENST00000382292.3:c.7102G>T	p.Ala2368Ser	p.A2368S	ENST00000382292		2368	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9300.2	7102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCCGCCT	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	COSM4046545,COSM4046544	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.314)	.	.	1,1	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Ala2368Ser,ENST00000382292,;SACS,missense_variant,p.Ala1618Ser,ENST00000402364,;SACS,missense_variant,p.Ala2368Ser,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	7691	79	87	SUCCESS
NBEA	26960	.	GRCh37	13	35632969	35632969	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	127	270	0	ENST00000400445.3:c.1208T>G	p.Phe403Cys	p.F403C	ENST00000400445	NM_015678.4	403	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS45026.1	1208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATTTGCAA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.60.120.200	.	.	ENSP00000383295	.	8/58	.	.	.	.	.	.	.	.	.	8/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.25)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Phe403Cys,ENST00000400445,;NBEA,missense_variant,p.Phe403Cys,ENST00000540320,;NBEA,missense_variant,p.Phe403Cys,ENST00000310336,;NBEA,missense_variant,p.Phe403Cys,ENST00000379939,;	1742	270	319	SUCCESS
NBEA	26960	.	GRCh37	13	36180583	36180583	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	96	0	ENST00000400445.3:c.7317C>T	p.Tyr2439=	p.Y2439=	ENST00000400445	NM_015678.4	2439	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS45026.1	7317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTACTACCT	NONE	.	.	PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	.	.	ENSP00000383295	.	48/58	.	.	.	.	.	.	.	.	.	48/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,synonymous_variant,p.%3D,ENST00000400445,;NBEA,synonymous_variant,p.%3D,ENST00000540320,;NBEA,synonymous_variant,p.%3D,ENST00000310336,;NBEA,synonymous_variant,p.%3D,ENST00000537702,;NBEA,synonymous_variant,p.%3D,ENST00000379939,;NBEA,5_prime_UTR_variant,,ENST00000379922,;	7851	97	100	SUCCESS
SAMD4A	23034	.	GRCh37	14	55034783	55034783	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	19	0	ENST00000392067.3:c.149C>G	p.Ala50Gly	p.A50G	ENST00000392067	NM_015589.5	50	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS32084.2	149	RADIA|MUTECT|MUSE	.	GCTGGCCGACT	NONE	.	.	hmmpanther:PTHR12515	.	.	ENSP00000375919	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000392067	Transcript	.	.	ENSG00000020577	23023	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.485)	.	tolerated(0.08)	.	SMAG1_HUMAN	SAMD4A	HGNC	J3QSW1_HUMAN	.	UPI0000229786	SNV	SAMD4A,missense_variant,p.Ala49Gly,ENST00000357634,;SAMD4A,missense_variant,p.Ala50Gly,ENST00000554335,;SAMD4A,missense_variant,p.Ala50Gly,ENST00000392067,;SAMD4A,missense_variant,p.Ala50Gly,ENST00000251091,;SAMD4A,non_coding_transcript_exon_variant,,ENST00000555112,;	149	19	11	SUCCESS
DAAM1	23002	.	GRCh37	14	59835462	59835462	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759867723	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	61	139	0	ENST00000395125.1:c.3122G>A	p.Arg1041His	p.R1041H	ENST00000395125	NM_014992.2	1041	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS9737.1	3122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACGCTCAG	NONE	byFrequency	.	PROSITE_profiles:PS51231,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,SMART_domains:SM00498	.	.	ENSP00000378557	.	25/25	.	.	.	.	.	.	.	.	rs759867723	25/25	PASS	ENST00000395125	Transcript	.	.	ENSG00000100592	18142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	DAAM1_HUMAN	DAAM1	HGNC	.	.	UPI0000161FAA	SNV	DAAM1,missense_variant,p.Arg1041His,ENST00000351081,;DAAM1,missense_variant,p.Arg1041His,ENST00000395125,;DAAM1,missense_variant,p.Arg1031His,ENST00000360909,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553966,;DAAM1,downstream_gene_variant,,ENST00000557029,;DAAM1,non_coding_transcript_exon_variant,,ENST00000555651,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553307,;DAAM1,downstream_gene_variant,,ENST00000553472,;DAAM1,downstream_gene_variant,,ENST00000557628,;	3145	139	156	SUCCESS
VRTN	55237	.	GRCh37	14	74823991	74823991	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	35	0	ENST00000256362.4:c.505A>T	p.Ser169Cys	p.S169C	ENST00000256362	NM_018228.2	169	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9830.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAGCTTC	NONE	.	.	hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081	.	.	ENSP00000256362	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000256362	Transcript	.	.	ENSG00000133980	20223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	VRTN_HUMAN	VRTN	HGNC	G3V537_HUMAN	.	UPI00000737D5	SNV	VRTN,missense_variant,p.Ser169Cys,ENST00000256362,;VRTN,downstream_gene_variant,,ENST00000557177,;	746	35	21	SUCCESS
RYR3	6263	.	GRCh37	15	33765670	33765670	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	43	0	ENST00000389232.4:c.102G>T	p.Arg34Ser	p.R34S	ENST00000389232	NM_001036.3	34	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS45210.1	102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGAAGTT	NONE	.	.	Gene3D:2.80.10.50,Pfam_domain:PF08709,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	2/104	.	.	.	.	.	.	.	.	.	2/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Arg34Ser,ENST00000389232,;RYR3,missense_variant,p.Arg34Ser,ENST00000415757,;	172	43	52	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40259627	40259627	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	33	162	0	ENST00000263791.5:c.1100A>G	p.Lys367Arg	p.K367R	ENST00000263791	NM_001013703.2	367	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS42016.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAAAGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000660,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263791	.	9/39	.	.	.	.	.	.	.	.	.	9/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.56)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Lys173Arg,ENST00000560855,;EIF2AK4,missense_variant,p.Lys367Arg,ENST00000382727,;EIF2AK4,missense_variant,p.Lys367Arg,ENST00000263791,;EIF2AK4,missense_variant,p.Lys367Arg,ENST00000559624,;	1143	163	157	SUCCESS
SPESP1	246777	.	GRCh37	15	69238044	69238044	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	77	203	0	ENST00000310673.3:c.171A>G	p.Lys57=	p.K57=	ENST00000310673	NM_145658.3	57	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS10230.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAATCTAA	NONE	.	.	hmmpanther:PTHR31667:SF2,hmmpanther:PTHR31667	.	.	ENSP00000312284	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310673	Transcript	.	.	ENSG00000258484	15570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPESP_HUMAN	SPESP1	HGNC	.	.	UPI0000072E8F	SNV	SPESP1,synonymous_variant,p.%3D,ENST00000310673,;NOX5,intron_variant,,ENST00000455873,;NOX5,intron_variant,,ENST00000448182,;NOX5,intron_variant,,ENST00000260364,;SPESP1,non_coding_transcript_exon_variant,,ENST00000560188,;SPESP1,non_coding_transcript_exon_variant,,ENST00000561467,;RP11-809H16.2,intron_variant,,ENST00000557966,;	325	203	197	SUCCESS
RP11-368J22.2	0	.	GRCh37	15	93609252	93609252	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	33	0	ENST00000557561.2:n.584A>G		p.*195*	ENST00000557561				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53974.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTCCCCG	NONE	.	.	.	.	.	ENSP00000452126	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000557301	Transcript	.	.	ENSG00000182175	30308	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RGMA	HGNC	G3V518_HUMAN,G3V4C2_HUMAN,F5H7G2_HUMAN,F5GZU6_HUMAN	.	UPI0002065681	SNV	RGMA,5_prime_UTR_variant,,ENST00000556658,;RGMA,intron_variant,,ENST00000555598,;RGMA,intron_variant,,ENST00000557420,;RGMA,intron_variant,,ENST00000556087,;RGMA,intron_variant,,ENST00000538818,;RGMA,intron_variant,,ENST00000557301,;RGMA,intron_variant,,ENST00000425933,;RGMA,intron_variant,,ENST00000329082,;RGMA,intron_variant,,ENST00000542321,;RGMA,intron_variant,,ENST00000543599,;RGMA,upstream_gene_variant,,ENST00000555584,;RGMA,non_coding_transcript_exon_variant,,ENST00000557608,;RGMA,intron_variant,,ENST00000554387,;RP11-368J22.2,non_coding_transcript_exon_variant,,ENST00000557561,;	.	33	22	SUCCESS
OTOA	146183	.	GRCh37	16	21739616	21739616	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755029973	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	92	0	ENST00000286149.4:c.2113C>T	p.His705Tyr	p.H705Y	ENST00000286149		705	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10600.2	2071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCACTTG	NONE	.	.	hmmpanther:PTHR23412:SF14,hmmpanther:PTHR23412	.	.	ENSP00000373610	.	19/28	.	.	.	.	.	.	.	.	rs755029973	19/28	PASS	ENST00000388958	Transcript	.	.	ENSG00000155719	16378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	OTOAN_HUMAN	OTOA	HGNC	B4DZ38_HUMAN	.	UPI00005C8607	SNV	OTOA,missense_variant,p.His612Tyr,ENST00000388956,;OTOA,missense_variant,p.His705Tyr,ENST00000286149,;OTOA,missense_variant,p.His367Tyr,ENST00000388957,;OTOA,missense_variant,p.His691Tyr,ENST00000388958,;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;OTOA,upstream_gene_variant,,ENST00000563506,;	2072	92	68	SUCCESS
RHBDL1	9028	.	GRCh37	16	727559	727559	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	42	0	ENST00000219551.2:c.984G>T	p.Met328Ile	p.M328I	ENST00000219551		328	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	.	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATGGTAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,Gene3D:2xovA00,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	.	.	ENSP00000219551	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000219551	Transcript	.	.	ENSG00000103269	10007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.12)	.	RHBL1_HUMAN	RHBDL1	HGNC	.	.	UPI0000048DB3	SNV	RHBDL1,missense_variant,p.Met263Ile,ENST00000352681,;RHBDL1,missense_variant,p.Met188Ile,ENST00000561556,;RHBDL1,missense_variant,p.Met328Ile,ENST00000219551,;JMJD8,downstream_gene_variant,,ENST00000562824,;STUB1,upstream_gene_variant,,ENST00000565677,;RHOT2,downstream_gene_variant,,ENST00000569197,;JMJD8,downstream_gene_variant,,ENST00000609261,;STUB1,upstream_gene_variant,,ENST00000567173,;RHOT2,downstream_gene_variant,,ENST00000315082,;JMJD8,downstream_gene_variant,,ENST00000454700,;STUB1,upstream_gene_variant,,ENST00000219548,;STUB1,upstream_gene_variant,,ENST00000564316,;JMJD8,downstream_gene_variant,,ENST00000293882,;STUB1,upstream_gene_variant,,ENST00000564370,;STUB1,upstream_gene_variant,,ENST00000566408,;JMJD8,downstream_gene_variant,,ENST00000412368,;LA16c-313D11.9,downstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,downstream_gene_variant,,ENST00000567091,;STUB1,upstream_gene_variant,,ENST00000566181,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000569248,;STUB1,upstream_gene_variant,,ENST00000565813,;JMJD8,downstream_gene_variant,,ENST00000568689,;RHOT2,downstream_gene_variant,,ENST00000569358,;JMJD8,downstream_gene_variant,,ENST00000563088,;RHOT2,downstream_gene_variant,,ENST00000569675,;RHOT2,downstream_gene_variant,,ENST00000602564,;RHOT2,downstream_gene_variant,,ENST00000564659,;JMJD8,downstream_gene_variant,,ENST00000567120,;STUB1,upstream_gene_variant,,ENST00000563505,;JMJD8,downstream_gene_variant,,ENST00000568313,;RHOT2,downstream_gene_variant,,ENST00000568636,;RHOT2,downstream_gene_variant,,ENST00000562957,;STUB1,upstream_gene_variant,,ENST00000567790,;JMJD8,downstream_gene_variant,,ENST00000569441,;RHOT2,downstream_gene_variant,,ENST00000565004,;RHOT2,downstream_gene_variant,,ENST00000561711,;	1011	42	38	SUCCESS
MED24	9862	.	GRCh37	17	38186019	38186019	+	synonymous_variant	Silent	SNP	A	A	G	rs758610267	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	80	0	ENST00000394128.2:c.1248T>C	p.Thr416=	p.T416=	ENST00000394128	NM_014815.3	416	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS11359.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACAGTGGG	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	13/26	.	.	.	.	.	.	.	.	rs758610267	13/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,synonymous_variant,p.%3D,ENST00000501516,;MED24,synonymous_variant,p.%3D,ENST00000535071,;MED24,synonymous_variant,p.%3D,ENST00000356271,;MED24,synonymous_variant,p.%3D,ENST00000394128,;MED24,synonymous_variant,p.%3D,ENST00000394126,;MED24,synonymous_variant,p.%3D,ENST00000580885,;MED24,synonymous_variant,p.%3D,ENST00000394127,;MED24,downstream_gene_variant,,ENST00000428757,;SNORD124,upstream_gene_variant,,ENST00000459577,;MED24,downstream_gene_variant,,ENST00000479829,;MED24,3_prime_UTR_variant,,ENST00000578901,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,downstream_gene_variant,,ENST00000584077,;MED24,upstream_gene_variant,,ENST00000580921,;MED24,upstream_gene_variant,,ENST00000580720,;MED24,upstream_gene_variant,,ENST00000584782,;MED24,downstream_gene_variant,,ENST00000585249,;MED24,downstream_gene_variant,,ENST00000580008,;MED24,upstream_gene_variant,,ENST00000581058,;MED24,upstream_gene_variant,,ENST00000495586,;MED24,downstream_gene_variant,,ENST00000577488,;	1330	80	61	SUCCESS
TP53	7157	.	GRCh37	17	7579420	7579420	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs587783062	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	155	0	ENST00000269305.4:c.267del	p.Ser90ProfsTer33	p.S90Pfs*33	ENST00000269305	NM_001126112.2	89	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS11118.1	267	INDELOCATOR*|VARSCANI*|PINDEL	likely_pathogenic	CCAGGAGGGGGC	CODON|p.0?|c.1_1182del1182|6,CODON|p.G59fs*23|c.175_374del200|3,CODON|p.A76_S90del15|c.226_270del45|3,BUFFER|p.W91*|c.273G>A|5,BUFFER|p.W91*|c.273G>A|3,BUFFER|p.W91*|c.273G>A|9,BUFFER|p.W91*|c.273G>A|9,BUFFER|p.W91*|c.273G>A|17,BUFFER|p.W91*|c.272G>A|3,BUFFER|p.W91*|c.272G>A|3,BUFFER|p.W91*|c.272G>A|7,BUFFER|p.P89S|c.265C>T|3,BUFFER|p.P87Q|c.260C>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	rs587783062,TP53_g.11498C>T,TP53_g.11498del,COSM1268330,COSM1180853,COSM1180854	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,0,0,1,1,1	.	.	.	.	.	0,0,0,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000508793,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000413465,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000604348,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000420246,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000269305,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000359597,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000445888,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000503591,;TP53,frameshift_variant,p.Ser90ProfsTer33,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	457	155	151	SUCCESS
RNMT	8731	.	GRCh37	18	13741655	13741655	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	98	0	ENST00000262173.3:c.939T>A	p.Tyr313Ter	p.Y313*	ENST00000262173		313	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS11867.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATTTTAT	NONE	.	.	Superfamily_domains:SSF53335,PIRSF_domain:PIRSF028762,Pfam_domain:PF03291,Gene3D:3.40.50.150,hmmpanther:PTHR12189,PROSITE_profiles:PS51562	.	.	ENSP00000372804	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000383314	Transcript	.	.	ENSG00000101654	10075	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCES_HUMAN	RNMT	HGNC	Q9UEB8_HUMAN,K7EPP5_HUMAN,K7EP06_HUMAN,F5H2D9_HUMAN	.	UPI000006F958	SNV	RNMT,stop_gained,p.Tyr313Ter,ENST00000383314,;RNMT,stop_gained,p.Tyr313Ter,ENST00000262173,;RNMT,stop_gained,p.Tyr313Ter,ENST00000589866,;RNMT,stop_gained,p.Tyr313Ter,ENST00000592764,;RNMT,stop_gained,p.Tyr71Ter,ENST00000535051,;RNMT,stop_gained,p.Tyr313Ter,ENST00000543302,;RNMT,upstream_gene_variant,,ENST00000593007,;RNMT,stop_gained,p.Tyr135Ter,ENST00000588457,;RNMT,non_coding_transcript_exon_variant,,ENST00000588417,;	1179	98	77	SUCCESS
NETO1	81832	.	GRCh37	18	70461395	70461395	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	37	150	0	ENST00000327305.6:c.596C>A	p.Ala199Asp	p.A199D	ENST00000327305	NM_138966.3	199	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS12000.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGCCTCG	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127,PROSITE_profiles:PS01180	.	.	ENSP00000313088	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.04)	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,missense_variant,p.Ala199Asp,ENST00000327305,;NETO1,missense_variant,p.Ala199Asp,ENST00000583169,;NETO1,missense_variant,p.Ala198Asp,ENST00000299430,;NETO1,intron_variant,,ENST00000579730,;	1254	150	187	SUCCESS
OR7A5	26659	.	GRCh37	19	14938215	14938215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	84	0	ENST00000322301.3:c.839T>A	p.Val280Glu	p.V280E	ENST00000322301		280	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS12318.1	839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCACAGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF219,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000316955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322301	Transcript	.	.	ENSG00000188269	8368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious_low_confidence(0)	.	OR7A5_HUMAN	OR7A5	HGNC	.	.	UPI0000041DE3	SNV	OR7A5,missense_variant,p.Val280Glu,ENST00000594432,;OR7A5,missense_variant,p.Val280Glu,ENST00000322301,;OR7A5,intron_variant,,ENST00000599549,;OR7A5,intron_variant,,ENST00000595922,;OR7A5,intron_variant,,ENST00000601611,;	927	84	56	SUCCESS
CTC-457E21.3	0	.	GRCh37	19	22786173	22786173	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	16	0	ENST00000600260.1:n.1854C>T		p.*618*	ENST00000600260				0	.	.	.	.	.	T	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCCCTGC	NONE	.	583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408863	Transcript	.	.	ENSG00000221790	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC011467.1	Clone_based_ensembl_gene	.	.	.	SNV	AC011467.1,downstream_gene_variant,,ENST00000408863,;RN7SL860P,downstream_gene_variant,,ENST00000473738,;CTC-457E21.3,non_coding_transcript_exon_variant,,ENST00000600260,;CTC-457E21.6,non_coding_transcript_exon_variant,,ENST00000599738,;CTC-457E21.3,downstream_gene_variant,,ENST00000597408,;CTC-457E21.5,upstream_gene_variant,,ENST00000598658,;CTC-457E21.3,non_coding_transcript_exon_variant,,ENST00000596977,;CTC-457E21.5,upstream_gene_variant,,ENST00000594891,;	.	16	23	SUCCESS
TJP3	27134	.	GRCh37	19	3728689	3728689	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1224652629	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	84	0	ENST00000541714.2:c.136G>A	p.Gly46Arg	p.G46R	ENST00000541714	NM_001267560.1	46	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS59332.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGGCCG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF11,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000465419	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000589378	Transcript	.	.	ENSG00000105289	11829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZO3_HUMAN	TJP3	HGNC	F5H4S9_HUMAN,F5H2X0_HUMAN	.	UPI00003E3015	SNV	TJP3,missense_variant,p.Gly55Arg,ENST00000589378,;TJP3,missense_variant,p.Gly10Arg,ENST00000539908,;TJP3,missense_variant,p.Gly46Arg,ENST00000382008,;TJP3,missense_variant,p.Gly56Arg,ENST00000590545,;TJP3,missense_variant,p.Gly65Arg,ENST00000262968,;TJP3,missense_variant,p.Gly65Arg,ENST00000587686,;TJP3,missense_variant,p.Gly46Arg,ENST00000541714,;TJP3,non_coding_transcript_exon_variant,,ENST00000587912,;	319	84	74	SUCCESS
MIR512-1	574458	.	GRCh37	19	54169940	54169940	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	127	515	1	ENST00000384913.1:n.14C>A		p.*5*	ENST00000384913				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCTGTGG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384913	Transcript	.	.	ENSG00000207645	32090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR512-1	HGNC	.	.	.	SNV	MIR512-1,non_coding_transcript_exon_variant,,ENST00000384913,;MIR512-2,upstream_gene_variant,,ENST00000384912,;	14	516	354	SUCCESS
FAM71E2	284418	.	GRCh37	19	55872803	55872803	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	71	248	1	ENST00000424985.3:c.565-1G>A		p.X189_splice	ENST00000424985	NM_001145402.1	189		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCTGCAG	NONE	.	.	.	.	.	ENSP00000398617	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000424985	Transcript	.	.	ENSG00000180043	25278	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F71E2_HUMAN	FAM71E2	HGNC	.	.	UPI0001949ABA	SNV	FAM71E2,splice_acceptor_variant,,ENST00000424985,;IL11,downstream_gene_variant,,ENST00000264563,;IL11,downstream_gene_variant,,ENST00000585513,;IL11,downstream_gene_variant,,ENST00000590625,;FAM71E2,intron_variant,,ENST00000585734,;CTD-2105E13.6,upstream_gene_variant,,ENST00000591954,;	.	250	195	SUCCESS
PIAS3	10401	.	GRCh37	1	145578670	145578670	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1553735631	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	11	130	0	ENST00000393045.2:c.476A>G	p.His159Arg	p.H159R	ENST00000393045	NM_006099.3	159	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS920.2	476	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCACTTTA	NONE	.	.	PROSITE_profiles:PS51466,hmmpanther:PTHR10782:SF10,hmmpanther:PTHR10782,Pfam_domain:PF14324	.	.	ENSP00000376765	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000393045	Transcript	.	.	ENSG00000131788	16861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.868)	.	tolerated(0.34)	.	PIAS3_HUMAN	PIAS3	HGNC	Q6IAR4_HUMAN,E7ESB4_HUMAN,A4CZ08_HUMAN	.	UPI0000150636	SNV	PIAS3,missense_variant,p.His159Arg,ENST00000393045,;PIAS3,missense_variant,p.His124Arg,ENST00000369298,;PIAS3,missense_variant,p.His150Arg,ENST00000369299,;PIAS3,missense_variant,p.His150Arg,ENST00000393046,;PIAS3,downstream_gene_variant,,ENST00000463514,;PIAS3,non_coding_transcript_exon_variant,,ENST00000498436,;PIAS3,non_coding_transcript_exon_variant,,ENST00000484423,;PIAS3,upstream_gene_variant,,ENST00000475261,;	566	130	109	SUCCESS
CHTOP	26097	.	GRCh37	1	153610521	153610521	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	13	0	ENST00000368694.3:c.66-250A>G		p.*22*	ENST00000368694	NM_001206612.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1048.1	.	MUTECT|MUSE	.	CTAAAAGCCGT	NONE	.	.	.	.	.	ENSP00000357683	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368694	Transcript	.	.	ENSG00000160679	24511	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHTOP_HUMAN	CHTOP	HGNC	.	.	UPI00000467F6	SNV	CHTOP,intron_variant,,ENST00000368690,;CHTOP,intron_variant,,ENST00000403433,;CHTOP,intron_variant,,ENST00000368694,;CHTOP,upstream_gene_variant,,ENST00000368686,;CHTOP,upstream_gene_variant,,ENST00000368687,;S100A13,upstream_gene_variant,,ENST00000368699,;RP1-178F15.4,upstream_gene_variant,,ENST00000469931,;CHTOP,non_coding_transcript_exon_variant,,ENST00000495554,;RP1-178F15.5,upstream_gene_variant,,ENST00000484413,;RP1-178F15.5,upstream_gene_variant,,ENST00000472233,;RP1-178F15.5,upstream_gene_variant,,ENST00000497086,;	.	13	22	SUCCESS
OR2L3	391192	.	GRCh37	1	248224048	248224048	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	132	0	ENST00000359959.3:c.65T>C	p.Ile22Thr	p.I22T	ENST00000359959	NM_001004687.1	22	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS31104.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATTGGCC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Low_complexity_(Seg):seg	.	.	ENSP00000353044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359959	Transcript	.	.	ENSG00000198128	15009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	OR2L3_HUMAN	OR2L3	HGNC	.	.	UPI0000061EB8	SNV	OR2L3,missense_variant,p.Ile22Thr,ENST00000359959,;OR2L13,intron_variant,,ENST00000366478,;	65	132	116	SUCCESS
ACADM	34	.	GRCh37	1	76190498	76190498	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780284821	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	96	0	ENST00000370841.4:c.26G>T	p.Cys9Phe	p.C9F	ENST00000370841	NM_000016.4	9	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS44165.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGCAGGG	NONE	.	.	.	.	.	ENSP00000409612	.	1/12	.	.	.	.	.	.	.	.	rs780284821	1/12	PASS	ENST00000420607	Transcript	.	.	ENSG00000117054	89	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious_low_confidence(0.03)	.	ACADM_HUMAN	ACADM	HGNC	B4DVB1_HUMAN,B4DJE7_HUMAN	.	UPI0000EE3287	SNV	ACADM,missense_variant,p.Cys9Phe,ENST00000370841,;ACADM,missense_variant,p.Cys9Phe,ENST00000370834,;ACADM,missense_variant,p.Cys9Phe,ENST00000420607,;ACADM,synonymous_variant,p.%3D,ENST00000541113,;ACADM,5_prime_UTR_variant,,ENST00000543667,;RP4-682C21.5,upstream_gene_variant,,ENST00000433521,;ACADM,missense_variant,p.Cys9Phe,ENST00000534334,;ACADM,missense_variant,p.Cys9Phe,ENST00000526129,;ACADM,missense_variant,p.Cys9Phe,ENST00000532509,;ACADM,missense_variant,p.Cys9Phe,ENST00000526196,;ACADM,missense_variant,p.Cys9Phe,ENST00000525808,;ACADM,missense_variant,p.Cys9Phe,ENST00000530953,;ACADM,non_coding_transcript_exon_variant,,ENST00000525881,;ACADM,non_coding_transcript_exon_variant,,ENST00000473018,;ACADM,non_coding_transcript_exon_variant,,ENST00000534146,;	34	96	65	SUCCESS
ODF2L	57489	.	GRCh37	1	86814704	86814704	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	30	0	ENST00000317336.7:c.1894-143T>C		p.*632*	ENST00000317336	NM_001184765.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41354.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGTTCATTCTT	NONE	.	.	.	.	.	ENSP00000359600	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000359242	Transcript	.	.	ENSG00000122417	29225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ODF2L_HUMAN	ODF2L	HGNC	B5ME44_HUMAN	.	UPI00001C1D6A	SNV	ODF2L,3_prime_UTR_variant,,ENST00000359242,;ODF2L,intron_variant,,ENST00000394731,;ODF2L,intron_variant,,ENST00000370566,;ODF2L,intron_variant,,ENST00000460698,;ODF2L,intron_variant,,ENST00000317336,;ODF2L,intron_variant,,ENST00000462648,;ODF2L,intron_variant,,ENST00000370567,;ODF2L,downstream_gene_variant,,ENST00000294678,;ODF2L,downstream_gene_variant,,ENST00000531412,;ODF2L,downstream_gene_variant,,ENST00000473792,;ODF2L,downstream_gene_variant,,ENST00000476054,;	5363	30	35	SUCCESS
SIRPG	55423	.	GRCh37	20	1616060	1616060	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780163170	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	50	188	0	ENST00000303415.3:c.934A>T	p.Ser312Cys	p.S312C	ENST00000303415	NM_018556.3	312	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS13020.2	934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTTGTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000305529	.	4/6	.	.	.	.	.	.	.	.	rs780163170	4/6	PASS	ENST00000303415	Transcript	.	.	ENSG00000089012	15757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	SIRPG_HUMAN	SIRPG	HGNC	.	.	UPI00001AE5FD	SNV	SIRPG,missense_variant,p.Ser279Cys,ENST00000381580,;SIRPG,missense_variant,p.Ser312Cys,ENST00000303415,;SIRPG,intron_variant,,ENST00000381583,;SIRPG,intron_variant,,ENST00000216927,;SIRPG,intron_variant,,ENST00000344103,;RP11-77C3.3,intron_variant,,ENST00000456177,;RP11-77C3.3,intron_variant,,ENST00000437384,;SIRPG,upstream_gene_variant,,ENST00000497407,;SIRPG,upstream_gene_variant,,ENST00000478145,;	999	188	145	SUCCESS
TAF4	6874	.	GRCh37	20	60639513	60639513	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	63	0	ENST00000252996.4:c.1354C>T	p.Pro452Ser	p.P452S	ENST00000252996	NM_003185.3	452	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33500.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGCAGCT	NONE	.	.	hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF13	.	.	ENSP00000252996	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000252996	Transcript	.	.	ENSG00000130699	11537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	.	.	TAF4_HUMAN	TAF4	HGNC	.	.	UPI000020630A	SNV	TAF4,missense_variant,p.Pro452Ser,ENST00000252996,;hsa-mir-3195,upstream_gene_variant,,ENST00000585001,;TAF4,upstream_gene_variant,,ENST00000608887,;	1354	63	61	SUCCESS
TTC3	7267	.	GRCh37	21	38538061	38538061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	60	0	ENST00000354749.2:c.3545G>A	p.Arg1182Lys	p.R1182K	ENST00000354749		1182	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS13651.1	3545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17550	.	.	ENSP00000381981	.	33/46	.	.	.	.	.	.	.	.	.	33/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.41)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Arg1164Lys,ENST00000438055,;TTC3,missense_variant,p.Arg1182Lys,ENST00000354749,;TTC3,missense_variant,p.Arg1182Lys,ENST00000355666,;TTC3,missense_variant,p.Arg1182Lys,ENST00000399017,;TTC3,downstream_gene_variant,,ENST00000418766,;TTC3,downstream_gene_variant,,ENST00000411496,;TTC3,non_coding_transcript_exon_variant,,ENST00000487711,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000469939,;TTC3,non_coding_transcript_exon_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;	6292	60	67	SUCCESS
RGPD4	285190	.	GRCh37	2	108488174	108488174	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	96	218	0	ENST00000408999.3:c.3714C>A	p.Pro1238=	p.P1238=	ENST00000408999	NM_182588.2	1238	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46381.1	3714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCAATCC	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	COSM3564962,COSM3564961	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	3791	218	141	SUCCESS
NTSR2	23620	.	GRCh37	2	11798629	11798629	+	synonymous_variant	Silent	SNP	C	C	T	rs150650740	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	33	89	0	ENST00000306928.5:c.1209G>A	p.Gly403=	p.G403=	ENST00000306928	NM_012344.3	403	ggG/ggA	0	T:0	.	.	.	.	T	G	protein_coding	YES	CCDS1681.1	1209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCCCCAAA	NONE	byCluster	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10	.	T:0.0001	ENSP00000303686	.	4/4	.	.	.	.	.	.	.	.	rs150650740	4/4	PASS	ENST00000306928	Transcript	.	.	ENSG00000169006	8040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTR2_HUMAN	NTSR2	HGNC	.	.	UPI000013EBAA	SNV	NTSR2,synonymous_variant,p.%3D,ENST00000306928,;	1244	89	114	SUCCESS
UNC80	285175	.	GRCh37	2	210777350	210777350	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	88	0	ENST00000439458.1:c.4651G>A	p.Gly1551Arg	p.G1551R	ENST00000439458	NM_032504.1	1551	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46504.1	4651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGGAAAA	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	29/64	.	.	.	.	.	.	.	.	.	29/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Gly1551Arg,ENST00000439458,;UNC80,missense_variant,p.Gly1546Arg,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	4731	88	78	SUCCESS
ADCY3	109	.	GRCh37	2	25141714	25141714	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	90	135	0	ENST00000260600.5:c.143G>C	p.Cys48Ser	p.C48S	ENST00000260600	NM_004036.3	48	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS1715.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCACAGG	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	.	.	ENSP00000260600	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000260600	Transcript	.	.	ENSG00000138031	234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.161)	.	tolerated(0.09)	.	ADCY3_HUMAN	ADCY3	HGNC	Q8NBM1_HUMAN,C9J969_HUMAN	.	UPI000013D0ED	SNV	ADCY3,missense_variant,p.Cys48Ser,ENST00000438445,;ADCY3,missense_variant,p.Cys48Ser,ENST00000260600,;ADCY3,missense_variant,p.Cys48Ser,ENST00000435135,;	995	136	180	SUCCESS
USP34	9736	.	GRCh37	2	61597513	61597514	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	339	117	325	0	ENST00000398571.2:c.1193dup	p.Leu398PhefsTer13	p.L398Ffs*13	ENST00000398571	NM_014709.3	398	ttg/ttTg	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS42686.1	1193-1194	VARSCANI*|PINDEL	.	GCTGCCAAAAA	NONE	.	.	.	.	.	ENSP00000381577	.	10/80	.	.	.	.	.	.	.	.	.	10/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	insertion	USP34,frameshift_variant,p.Leu398PhefsTer13,ENST00000398571,;USP34,3_prime_UTR_variant,,ENST00000453133,;	1270-1271	325	456	SUCCESS
HPS3	84343	.	GRCh37	3	148858010	148858010	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	84	151	0	ENST00000296051.2:c.437G>A	p.Gly146Glu	p.G146E	ENST00000296051	NM_032383.3	146	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS3140.1	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGGAGACC	NONE	.	.	Pfam_domain:PF14761,PIRSF_domain:PIRSF037473	.	.	ENSP00000296051	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000296051	Transcript	.	.	ENSG00000163755	15597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HPS3_HUMAN	HPS3	HGNC	Q8N3N1_HUMAN	.	UPI000000D989	SNV	HPS3,missense_variant,p.Gly146Glu,ENST00000296051,;HPS3,intron_variant,,ENST00000460120,;HPS3,non_coding_transcript_exon_variant,,ENST00000462030,;HPS3,non_coding_transcript_exon_variant,,ENST00000486530,;	577	151	196	SUCCESS
LIPH	200879	.	GRCh37	3	185234915	185234915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	118	0	ENST00000296252.4:c.922G>T	p.Gly308Trp	p.G308W	ENST00000296252	NM_139248.2	308	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS3272.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCCCTTA	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF12,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000296252	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000296252	Transcript	.	.	ENSG00000163898	18483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	deleterious(0.01)	.	LIPH_HUMAN	LIPH	HGNC	A2IBA8_HUMAN	.	UPI000003AEB8	SNV	LIPH,missense_variant,p.Gly274Trp,ENST00000424591,;LIPH,missense_variant,p.Gly308Trp,ENST00000296252,;LIPH,downstream_gene_variant,,ENST00000452897,;LIPH,upstream_gene_variant,,ENST00000435679,;	1064	118	96	SUCCESS
KLHL40	131377	.	GRCh37	3	42727774	42727774	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	74	0	ENST00000287777.4:c.664G>A	p.Glu222Lys	p.E222K	ENST00000287777	NM_152393.3	222	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2703.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGAGAGC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000287777	.	1/6	.	.	.	.	.	.	.	.	COSM1328228	1/6	PASS	ENST00000287777	Transcript	.	.	ENSG00000157119	30372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.235)	.	tolerated(0.19)	1	KLH40_HUMAN	KLHL40	HGNC	.	.	UPI000000D866	SNV	KLHL40,missense_variant,p.Glu222Lys,ENST00000287777,;	764	74	59	SUCCESS
CISH	1154	.	GRCh37	3	50649061	50649061	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	56	247	0	ENST00000348721.3:c.20+1G>A		p.X7_splice	ENST00000348721	NM_145071.2	7		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46834.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTACCCCTG	NONE	.	.	.	.	.	ENSP00000409346	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	HIGH	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	SNV	CISH,splice_donor_variant,,ENST00000348721,;CISH,splice_donor_variant,,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,non_coding_transcript_exon_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	.	247	175	SUCCESS
ALPK1	80216	.	GRCh37	4	113332973	113332973	+	intron_variant	Intron	SNP	G	G	C	rs754416973	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	61	0	ENST00000177648.9:c.277-10G>C		p.*93*	ENST00000177648				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3697.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTGTTCCT	NONE	.	.	.	.	.	ENSP00000398048	.	.	.	.	.	.	.	.	.	.	rs754416973	.	PASS	ENST00000458497	Transcript	.	.	ENSG00000073331	20917	.	.	MODIFIER	4/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALPK1_HUMAN	ALPK1	HGNC	.	.	UPI000045725F	SNV	ALPK1,intron_variant,,ENST00000458497,;ALPK1,intron_variant,,ENST00000504176,;ALPK1,intron_variant,,ENST00000177648,;ALPK1,non_coding_transcript_exon_variant,,ENST00000505912,;ALPK1,intron_variant,,ENST00000515106,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,intron_variant,,ENST00000509722,;ALPK1,intron_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000515330,;	.	61	49	SUCCESS
HS3ST1	9957	.	GRCh37	4	11401383	11401383	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759091254	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	75	0	ENST00000002596.5:c.247G>T	p.Ala83Ser	p.A83S	ENST00000002596	NM_005114.2	83	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3408.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGCGGCCG	NONE	.	.	hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000002596	.	2/2	.	.	.	.	.	.	.	.	rs759091254	2/2	PASS	ENST00000002596	Transcript	.	.	ENSG00000002587	5194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,missense_variant,p.Ala83Ser,ENST00000002596,;HS3ST1,incomplete_terminal_codon_variant,p.%3D,ENST00000510712,;HS3ST1,incomplete_terminal_codon_variant,p.%3D,ENST00000514690,;	1422	75	63	SUCCESS
FGA	2243	.	GRCh37	4	155505805	155505805	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	58	132	1	ENST00000302053.3:c.2072A>G	p.Asp691Gly	p.D691G	ENST00000302053	NM_000508.3	691	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3787.1	2072	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGTCTTGC	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000306361	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Asp691Gly,ENST00000302053,;FGA,downstream_gene_variant,,ENST00000403106,;	2151	133	135	SUCCESS
FGA	2243	.	GRCh37	4	155507053	155507053	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	66	0	ENST00000302053.3:c.1528C>T	p.Arg510Cys	p.R510C	ENST00000302053	NM_000508.3	510	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3787.1	1528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGGAACC	NONE	.	.	Pfam_domain:PF12160,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.07)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Arg510Cys,ENST00000302053,;FGA,missense_variant,p.Arg510Cys,ENST00000403106,;	1607	66	70	SUCCESS
SMARCAD1	56916	.	GRCh37	4	95173931	95173931	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs145303992	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	70	187	0	ENST00000354268.4:c.1054A>G	p.Lys352Glu	p.K352E	ENST00000354268		352	Aag/Gag	0	G:0.0002	.	.	.	.	G	K/E	protein_coding	YES	CCDS47101.1	1054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAAGAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF271	.	G:0	ENSP00000351947	.	9/24	.	.	.	.	.	.	.	.	rs145303992	9/24	PASS	ENST00000359052	Transcript	1	.	ENSG00000163104	18398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.34)	.	SMRCD_HUMAN	SMARCAD1	HGNC	.	.	UPI000020B1CF	SNV	SMARCAD1,missense_variant,p.Lys352Glu,ENST00000457823,;SMARCAD1,missense_variant,p.Lys352Glu,ENST00000354268,;SMARCAD1,missense_variant,p.Lys352Glu,ENST00000359052,;SMARCAD1,upstream_gene_variant,,ENST00000509418,;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;SMARCAD1,3_prime_UTR_variant,,ENST00000510105,;	1228	187	162	SUCCESS
CHSY3	337876	.	GRCh37	5	129240619	129240619	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	52	0	ENST00000305031.4:c.97G>A	p.Glu33Lys	p.E33K	ENST00000305031	NM_175856.4	33	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34223.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGAGCTG	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18	.	.	ENSP00000302629	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	deleterious_low_confidence(0)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Glu33Lys,ENST00000305031,;CTC-575N7.1,intron_variant,,ENST00000503616,;CTC-575N7.1,intron_variant,,ENST00000515569,;CHSY3,upstream_gene_variant,,ENST00000507545,;	455	52	36	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130769233	130769233	+	synonymous_variant	Silent	SNP	T	T	C	rs373104489	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	65	124	0	ENST00000509018.1:c.3864A>G	p.Leu1288=	p.L1288=	ENST00000509018	NM_016340.5	1288	ctA/ctG	0	C:0.0002	.	.	.	.	C	L	protein_coding	YES	CCDS54900.1	3888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTAGAGC	NONE	byCluster	.	.	.	C:0	ENSP00000296859	.	26/29	.	.	.	.	.	.	.	.	rs373104489	26/29	PASS	ENST00000296859	Transcript	.	.	ENSG00000158987	20655	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF6_HUMAN	RAPGEF6	HGNC	D6RB02_HUMAN	.	UPI000189A836	SNV	RAPGEF6,synonymous_variant,p.%3D,ENST00000307984,;RAPGEF6,synonymous_variant,p.%3D,ENST00000507093,;CTC-432M15.3,synonymous_variant,p.%3D,ENST00000514667,;RAPGEF6,synonymous_variant,p.%3D,ENST00000296859,;RAPGEF6,synonymous_variant,p.%3D,ENST00000509018,;RAPGEF6,downstream_gene_variant,,ENST00000512052,;RAPGEF6,downstream_gene_variant,,ENST00000308008,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000512611,;RAPGEF6,downstream_gene_variant,,ENST00000515170,;	3969	124	128	SUCCESS
PCDHA12	56137	.	GRCh37	5	140257029	140257029	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782552942	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	96	168	0	ENST00000398631.2:c.1972G>A	p.Ala658Thr	p.A658T	ENST00000398631	NM_018903.2	658	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47285.1	1972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGCGCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	rs782552942	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated_low_confidence(0.05)	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,missense_variant,p.Ala658Thr,ENST00000398631,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,upstream_gene_variant,,ENST00000289272,;PCDHA13,upstream_gene_variant,,ENST00000409494,;	1972	168	184	SUCCESS
PCDHB17	0	.	GRCh37	5	140537240	140537240	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	47	94	0	ENST00000539533.1:c.1664C>T	p.Thr555Met	p.T555M	ENST00000539533		555	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	.	1664	RADIA|MUTECT|MUSE	.	CTGGACGCCAA	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00112,PROSITE_profiles:PS50268	.	.	ENSP00000438685	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000539533	Transcript	.	.	ENSG00000255622	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.608)	.	tolerated_low_confidence(0.08)	.	.	PCDHB17	Uniprot_gn	Q96T98_HUMAN	.	UPI000006CE19	SNV	PCDHB17,missense_variant,p.Thr555Met,ENST00000539533,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB6,downstream_gene_variant,,ENST00000231136,;	1664	94	96	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140773677	140773677	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	55	226	0	ENST00000398604.2:c.1297T>C	p.Ser433Pro	p.S433P	ENST00000398604	NM_032088.1	433	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47291.1	1297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTCCACT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.724)	.	deleterious_low_confidence(0)	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Ser433Pro,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	1297	226	208	SUCCESS
CLK4	57396	.	GRCh37	5	178040819	178040819	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	77	123	0	ENST00000316308.4:c.568A>C	p.Ile190Leu	p.I190L	ENST00000316308	NM_020666.2	190	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4437.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGATTTTCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000316948	.	6/13	.	.	.	.	.	.	.	.	COSM1620126,COSM1620125	6/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.947)	.	deleterious(0)	1,1	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,missense_variant,p.Ile190Leu,ENST00000316308,;CLK4,downstream_gene_variant,,ENST00000522749,;CLK4,3_prime_UTR_variant,,ENST00000522136,;CLK4,3_prime_UTR_variant,,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,downstream_gene_variant,,ENST00000522556,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	737	123	124	SUCCESS
TRIM7	81786	.	GRCh37	5	180622567	180622567	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778604025	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	7	153	0	ENST00000274773.7:c.1135C>T	p.Arg379Cys	p.R379C	ENST00000274773	NM_203293.2	379	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4462.1	1135	MUTECT|MUSE	.	GAAGCGGCAGG	BUFFER|p.H376P|c.1127A>C|4,BUFFER|p.H194P|c.581A>C|4	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF221,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000274773	.	7/7	.	.	.	.	.	.	.	.	rs778604025	7/7	PASS	ENST00000274773	Transcript	.	.	ENSG00000146054	16278	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRIM7_HUMAN	TRIM7	HGNC	.	.	UPI000006D24A	SNV	TRIM7,missense_variant,p.Arg197Cys,ENST00000393319,;TRIM7,missense_variant,p.Arg171Cys,ENST00000393315,;TRIM7,missense_variant,p.Arg379Cys,ENST00000274773,;TRIM7,missense_variant,p.Arg171Cys,ENST00000422067,;TRIM7,missense_variant,p.Arg171Cys,ENST00000361809,;CTC-338M12.2,upstream_gene_variant,,ENST00000513771,;CTC-338M12.6,non_coding_transcript_exon_variant,,ENST00000512508,;CTC-338M12.6,upstream_gene_variant,,ENST00000419707,;CTC-338M12.5,downstream_gene_variant,,ENST00000514487,;CTC-338M12.6,upstream_gene_variant,,ENST00000511517,;CTC-338M12.6,upstream_gene_variant,,ENST00000509080,;CTC-338M12.6,upstream_gene_variant,,ENST00000502812,;CTC-338M12.5,downstream_gene_variant,,ENST00000508877,;TRIM7,non_coding_transcript_exon_variant,,ENST00000504241,;	1197	153	147	SUCCESS
PLCXD3	345557	.	GRCh37	5	41382054	41382054	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	78	0	ENST00000328457.3:c.686T>C	p.Leu229Pro	p.L229P	ENST00000328457	NM_001005473.2	229	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34150.1	686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAAGAAAC	NONE	.	.	hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000367032	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377801	Transcript	.	.	ENSG00000182836	31822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PLCX3_HUMAN	PLCXD3	HGNC	B3KXD1_HUMAN	.	UPI0000049DBB	SNV	PLCXD3,missense_variant,p.Leu229Pro,ENST00000328457,;PLCXD3,missense_variant,p.Leu229Pro,ENST00000377801,;	761	78	129	SUCCESS
ATP6AP1L	92270	.	GRCh37	5	81601093	81601093	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs185528996	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	16	0	ENST00000380167.4:c.-128C>T		p.*43*	ENST00000380167				0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS34196.1	.	MUTECT|MUSE	.	GAGATCGCGCC	NONE	byFrequency|by1000G	.	.	T:0.003	.	ENSP00000369513	T:0	7/10	.	.	.	.	.	.	.	.	rs185528996	7/10	PASS	ENST00000380167	Transcript	.	T:0.0008	ENSG00000205464	28091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	VAS1L_HUMAN	ATP6AP1L	HGNC	.	.	UPI000015F4B3	SNV	ATP6AP1L,5_prime_UTR_variant,,ENST00000380167,;ATP6AP1L,upstream_gene_variant,,ENST00000439350,;ATP6AP1L,upstream_gene_variant,,ENST00000508366,;ATP6AP1L,upstream_gene_variant,,ENST00000514672,;	1198	16	30	SUCCESS
NBPF22P	285622	.	GRCh37	5	85578608	85578608	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	161	250	0	ENST00000590707.1:n.331T>C		p.*111*	ENST00000590707				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTCCAGC	NONE	.	.	.	.	.	.	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000590707	Transcript	.	.	ENSG00000205449	28731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NBPF22P	HGNC	.	.	.	SNV	NBPF22P,non_coding_transcript_exon_variant,,ENST00000590707,;NBPF22P,non_coding_transcript_exon_variant,,ENST00000508988,;	331	250	311	SUCCESS
PTPRK	5796	.	GRCh37	6	128320011	128320012	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	61	0	ENST00000368215.3:c.2529dup	p.Leu844SerfsTer9	p.L844Sfs*9	ENST00000368215		843	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS47473.1	2532-2533	INDELOCATOR|VARSCANI	.	GTCTAGAAGGC	NONE	.	.	hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134	.	.	ENSP00000357196	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	insertion	PTPRK,frameshift_variant,p.Leu104SerfsTer9,ENST00000415055,;PTPRK,frameshift_variant,p.Leu861SerfsTer9,ENST00000532331,;PTPRK,frameshift_variant,p.Leu845SerfsTer9,ENST00000368226,;PTPRK,frameshift_variant,p.Leu844SerfsTer9,ENST00000368215,;PTPRK,frameshift_variant,p.Leu871SerfsTer9,ENST00000368207,;PTPRK,frameshift_variant,p.Leu138SerfsTer9,ENST00000415046,;PTPRK,frameshift_variant,p.Leu857SerfsTer9,ENST00000368210,;PTPRK,frameshift_variant,p.Leu857SerfsTer9,ENST00000368227,;PTPRK,frameshift_variant,p.Leu845SerfsTer9,ENST00000368213,;PTPRK,downstream_gene_variant,,ENST00000524481,;PTPRK,downstream_gene_variant,,ENST00000531050,;	2757-2758	61	102	SUCCESS
VWA7	80737	.	GRCh37	6	31736935	31736935	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1418013691	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	67	0	ENST00000375688.4:c.1363G>A	p.Ala455Thr	p.A455T	ENST00000375688		455	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4721.2	1363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCTCGAC	NONE	.	.	hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	.	.	ENSP00000364840	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000375688	Transcript	.	.	ENSG00000204396	13939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.7)	.	VWA7_HUMAN	VWA7	HGNC	.	.	UPI0000E5AD19	SNV	VWA7,missense_variant,p.Ala455Thr,ENST00000447450,;VWA7,missense_variant,p.Ala455Thr,ENST00000375688,;VWA7,missense_variant,p.Ala455Thr,ENST00000375686,;MSH5,downstream_gene_variant,,ENST00000534153,;SAPCD1,downstream_gene_variant,,ENST00000415669,;SAPCD1,downstream_gene_variant,,ENST00000425424,;SAPCD1,downstream_gene_variant,,ENST00000433778,;SAPCD1-AS1,upstream_gene_variant,,ENST00000419679,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,downstream_gene_variant,,ENST00000487013,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000498473,;SAPCD1,downstream_gene_variant,,ENST00000494299,;VWA7,upstream_gene_variant,,ENST00000486423,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000493662,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000476085,;	1564	67	49	SUCCESS
TDRD6	221400	.	GRCh37	6	46658262	46658262	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	59	139	0	ENST00000316081.6:c.2397A>C	p.Lys799Asn	p.K799N	ENST00000316081	NM_001010870.2	799	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS34470.1	2397	RADIA|MUTECT|MUSE	.	CTTAAAACTCT	NONE	.	.	Superfamily_domains:SSF63748,Gene3D:2.30.30.140,Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.049)	.	tolerated(0.08)	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,missense_variant,p.Lys799Asn,ENST00000316081,;TDRD6,missense_variant,p.Lys799Asn,ENST00000544460,;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	2397	139	132	SUCCESS
EFHC1	114327	.	GRCh37	6	52285108	52285108	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	25	42	0	ENST00000371068.5:c.-101C>A		p.*34*	ENST00000371068	NM_018100.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4942.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTAGCGTTAC	NONE	.	.	.	.	.	ENSP00000360107	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000371068	Transcript	.	.	ENSG00000096093	16406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EFHC1_HUMAN	EFHC1	HGNC	B2CKC5_HUMAN	.	UPI0000141099	SNV	EFHC1,5_prime_UTR_variant,,ENST00000371068,;EFHC1,upstream_gene_variant,,ENST00000538167,;EFHC1,upstream_gene_variant,,ENST00000433625,;EFHC1,upstream_gene_variant,,ENST00000491749,;EFHC1,5_prime_UTR_variant,,ENST00000480623,;	3	42	48	SUCCESS
GFRAL	389400	.	GRCh37	6	55216223	55216223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	54	106	1	ENST00000340465.2:c.543C>A	p.Asn181Lys	p.N181K	ENST00000340465	NM_207410.2	181	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS4957.1	543	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAACATTGC	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,Pfam_domain:PF02351,SMART_domains:SM00907,Superfamily_domains:0042655	.	.	ENSP00000343636	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0.05)	.	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,missense_variant,p.Asn181Lys,ENST00000340465,;	629	107	134	SUCCESS
MUC17	140453	.	GRCh37	7	100685401	100685401	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	38	83	0	ENST00000306151.4:c.10704G>T	p.Met3568Ile	p.M3568I	ENST00000306151	NM_001040105.1	3568	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS34711.1	10704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTATGTCTAC	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Met3568Ile,ENST00000306151,;MUC17,missense_variant,p.Met3568Ile,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	10768	83	77	SUCCESS
ST7	7982	.	GRCh37	7	116593538	116593538	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	15	0	ENST00000265437.5:c.-57C>A		p.*19*	ENST00000265437	NM_021908.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5770.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCGGTGA	NONE	.	.	.	.	.	ENSP00000265437	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000265437	Transcript	.	.	ENSG00000004866	11351	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST7_HUMAN	ST7	HGNC	Q9NRC0_HUMAN,C9JZV9_HUMAN,C9JX79_HUMAN,C9JRQ0_HUMAN,C9JCI7_HUMAN	.	UPI00000702A3	SNV	ST7,5_prime_UTR_variant,,ENST00000393449,;ST7,5_prime_UTR_variant,,ENST00000393451,;ST7,5_prime_UTR_variant,,ENST00000393446,;ST7,5_prime_UTR_variant,,ENST00000323984,;ST7,5_prime_UTR_variant,,ENST00000265437,;ST7-OT4,upstream_gene_variant,,ENST00000597499,;ST7,upstream_gene_variant,,ENST00000417919,;ST7,upstream_gene_variant,,ENST00000446490,;ST7-OT4,upstream_gene_variant,,ENST00000397751,;ST7,upstream_gene_variant,,ENST00000421345,;ST7-OT4,upstream_gene_variant,,ENST00000397750,;ST7-AS1,non_coding_transcript_exon_variant,,ENST00000456775,;ST7-OT4,upstream_gene_variant,,ENST00000471110,;ST7-OT4,upstream_gene_variant,,ENST00000470996,;ST7-OT4,upstream_gene_variant,,ENST00000466018,;ST7,5_prime_UTR_variant,,ENST00000438863,;ST7,5_prime_UTR_variant,,ENST00000443979,;	158	15	21	SUCCESS
VWDE	221806	.	GRCh37	7	12410068	12410068	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	22	0	ENST00000275358.3:c.1864T>G	p.Tyr622Asp	p.Y622D	ENST00000275358	NM_001135924.1	622	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS47544.1	1864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATAGGATG	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67,PROSITE_profiles:PS51233	.	.	ENSP00000275358	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Tyr622Asp,ENST00000275358,;VWDE,missense_variant,p.Tyr622Asp,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	2053	22	23	SUCCESS
AGBL3	340351	.	GRCh37	7	134719306	134719306	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	94	0	ENST00000436302.2:c.964T>G	p.Phe322Val	p.F322V	ENST00000436302	NM_178563.3	322	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS47718.1	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTTTTGT	NONE	.	.	hmmpanther:PTHR12756:SF6,hmmpanther:PTHR12756,Pfam_domain:PF00246,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000388275	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000436302	Transcript	.	.	ENSG00000146856	27981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.06)	.	CBPC3_HUMAN	AGBL3	HGNC	.	.	UPI000192952B	SNV	AGBL3,missense_variant,p.Phe296Val,ENST00000458078,;AGBL3,missense_variant,p.Phe322Val,ENST00000436302,;AGBL3,missense_variant,p.Phe322Val,ENST00000435976,;AGBL3,missense_variant,p.Phe322Val,ENST00000275763,;	1217	94	105	SUCCESS
GPIHBP1	338328	.	GRCh37	8	144297217	144297217	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs369222108	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	53	90	0	ENST00000330824.2:c.379A>T	p.Thr127Ser	p.T127S	ENST00000330824	NM_178172.3	127	Acc/Tcc	0	G:0.0002	.	.	.	.	T	T/S	protein_coding	YES	CCDS34954.1	379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGACCATG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF57302,Pfam_domain:PF00021,Gene3D:2.10.60.10,hmmpanther:PTHR16983,hmmpanther:PTHR16983:SF12	.	G:0	ENSP00000329266	.	4/4	.	.	.	.	.	.	.	.	rs369222108	4/4	PASS	ENST00000330824	Transcript	.	.	ENSG00000182851	24945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0.01)	.	HDBP1_HUMAN	GPIHBP1	HGNC	.	.	UPI00001867E1	SNV	GPIHBP1,missense_variant,p.Thr127Ser,ENST00000330824,;	454	90	101	SUCCESS
SNX16	64089	.	GRCh37	8	82752214	82752214	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	49	0	ENST00000345957.4:c.8C>A	p.Thr3Asn	p.T3N	ENST00000345957	NM_152836.2	3	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS6234.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGTTGCC	NONE	.	.	hmmpanther:PTHR22999,hmmpanther:PTHR22999:SF7	.	.	ENSP00000379621	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000396330	Transcript	.	.	ENSG00000104497	14980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0)	.	SNX16_HUMAN	SNX16	HGNC	E5RJ81_HUMAN,E5RJ65_HUMAN,E5RHF1_HUMAN,E5RGQ6_HUMAN	.	UPI000004D24C	SNV	SNX16,missense_variant,p.Thr3Asn,ENST00000520618,;SNX16,missense_variant,p.Thr3Asn,ENST00000345957,;SNX16,missense_variant,p.Thr3Asn,ENST00000518183,;SNX16,missense_variant,p.Thr3Asn,ENST00000519817,;SNX16,missense_variant,p.Thr3Asn,ENST00000521773,;SNX16,missense_variant,p.Thr3Asn,ENST00000396330,;SNX16,missense_variant,p.Thr3Asn,ENST00000519119,;SNX16,missense_variant,p.Thr3Asn,ENST00000353788,;SNX16,missense_variant,p.Thr3Asn,ENST00000523757,;SNX16,missense_variant,p.Thr3Asn,ENST00000521810,;	515	49	33	SUCCESS
TMEFF1	8577	.	GRCh37	9	103278965	103278965	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752009168	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	122	0	ENST00000374879.4:c.472G>A	p.Gly158Arg	p.G158R	ENST00000374879	NM_003692.4	158	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6750.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGGGTCA	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF255,Low_complexity_(Seg):seg	.	.	ENSP00000364013	.	5/10	.	.	.	.	.	.	.	.	rs752009168	5/10	PASS	ENST00000374879	Transcript	.	.	ENSG00000241697	11866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TEFF1_HUMAN	TMEFF1	HGNC	.	.	UPI000004ECA5	SNV	TMEFF1,missense_variant,p.Gly119Arg,ENST00000334943,;TMEFF1,missense_variant,p.Gly158Arg,ENST00000374879,;MSANTD3-TMEFF1,missense_variant,p.Gly122Arg,ENST00000502978,;	904	122	94	SUCCESS
PAPPA	5069	.	GRCh37	9	119097256	119097256	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758150326	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	91	0	ENST00000328252.3:c.3514G>A	p.Ala1172Thr	p.A1172T	ENST00000328252	NM_002581.3	1172	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6813.1	3514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCGCCATC	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347	.	.	ENSP00000330658	.	13/22	.	.	.	.	.	.	.	.	rs758150326	13/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	deleterious(0)	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,missense_variant,p.Ala1172Thr,ENST00000328252,;PAPPA,missense_variant,p.Ala210Thr,ENST00000534838,;PAPPA,non_coding_transcript_exon_variant,,ENST00000460463,;	3883	91	66	SUCCESS
GNA14	9630	.	GRCh37	9	80144021	80144021	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	118	0	ENST00000341700.6:c.273C>T	p.Asp91=	p.D91=	ENST00000341700	NM_004297.3	91	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS6657.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTGTCCAT	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF57,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000365807	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000341700	Transcript	.	.	ENSG00000156049	4382	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNA14_HUMAN	GNA14	HGNC	B1ALW3_HUMAN	.	UPI000004D20C	SNV	GNA14,synonymous_variant,p.%3D,ENST00000341700,;RP11-466A17.1,downstream_gene_variant,,ENST00000439145,;	787	118	107	SUCCESS
IRS4	8471	.	GRCh37	X	107978096	107978096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	64	0	ENST00000372129.2:c.1479G>T	p.Trp493Cys	p.W493C	ENST00000372129	NM_003604.2	493	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS14544.1	1479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCCAATT	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Trp493Cys,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	1556	64	108	SUCCESS
UPF3B	65109	.	GRCh37	X	118975219	118975222	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	TCTC	TCTC	-	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	TCTC	TCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	4	20	23	0	ENST00000276201.2:c.625-1_627del		p.X209_splice	ENST00000276201	NM_080632.2	209		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14588.1	?-627	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCATTCTCTAGAA	NONE	.	.	.	.	.	ENSP00000276201	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000276201	Transcript	.	.	ENSG00000125351	20439	.	.	HIGH	6/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REN3B_HUMAN	UPF3B	HGNC	I3XIE4_HUMAN	.	UPI000006D21C	deletion	UPF3B,splice_acceptor_variant,,ENST00000345865,;UPF3B,splice_acceptor_variant,,ENST00000276201,;UPF3B,splice_acceptor_variant,,ENST00000478840,;	?-697	23	24	SUCCESS
MXRA5	25878	.	GRCh37	X	3229455	3229455	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	62	99	1	ENST00000217939.6:c.6789G>T	p.Val2263=	p.V2263=	ENST00000217939	NM_015419.3	2263	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14124.1	6789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCCACTTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000217939	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,synonymous_variant,p.%3D,ENST00000217939,;	6944	101	87	SUCCESS
TNMD	64102	.	GRCh37	X	99854661	99854661	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761145360	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	78	64	0	ENST00000373031.4:c.901C>T	p.Arg301Cys	p.R301C	ENST00000373031	NM_022144.2	301	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS14469.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCGTGTC	NONE	byFrequency	.	hmmpanther:PTHR14064,hmmpanther:PTHR14064:SF3	.	.	ENSP00000362122	.	7/7	.	.	.	.	.	.	.	.	rs761145360,COSM3564187	7/7	PASS	ENST00000373031	Transcript	.	.	ENSG00000000005	17757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.994)	.	deleterious(0)	0,1	TNMD_HUMAN	TNMD	HGNC	.	.	UPI0000001042	SNV	TNMD,missense_variant,p.Arg301Cys,ENST00000373031,;TNMD,downstream_gene_variant,,ENST00000485971,;	1118	64	89	SUCCESS
RBM20	282996	.	GRCh37	10	112404251	112404251	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	696	344	978	0	ENST00000369519.3:c.39C>T	p.Pro13=	p.P13=	ENST00000369519	NM_001134363.1	13	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS44477.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCAGCGG	NONE	.	.	.	.	.	ENSP00000358532	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000369519	Transcript	1	.	ENSG00000203867	27424	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM20_HUMAN	RBM20	HGNC	.	.	UPI00016624E1	SNV	RBM20,synonymous_variant,p.%3D,ENST00000369519,;Y_RNA,upstream_gene_variant,,ENST00000411370,;	97	978	1040	SUCCESS
CUL2	8453	.	GRCh37	10	35320492	35320492	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	97	0	ENST00000374748.1:c.1226A>G	p.Asn409Ser	p.N409S	ENST00000374748		409	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS55709.1	1283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATTCTCT	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932:SF23,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF75632	.	.	ENSP00000444856	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000537177	Transcript	.	.	ENSG00000108094	2552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(1)	.	CUL2_HUMAN	CUL2	HGNC	Q5T2B4_HUMAN	.	UPI0000EE4467	SNV	CUL2,missense_variant,p.Asn409Ser,ENST00000374748,;CUL2,missense_variant,p.Asn428Ser,ENST00000537177,;CUL2,missense_variant,p.Asn409Ser,ENST00000374751,;CUL2,missense_variant,p.Asn409Ser,ENST00000374742,;CUL2,missense_variant,p.Asn352Ser,ENST00000602371,;CUL2,missense_variant,p.Asn409Ser,ENST00000374746,;CUL2,missense_variant,p.Asn409Ser,ENST00000374749,;CUL2,3_prime_UTR_variant,,ENST00000374754,;	1345	97	99	SUCCESS
NODAL	4838	.	GRCh37	10	72195410	72195410	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	36	131	0	ENST00000287139.3:c.523A>G	p.Arg175Gly	p.R175G	ENST00000287139	NM_018055.4	175	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS7304.1	523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTGGACA	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF126	.	.	ENSP00000287139	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000287139	Transcript	1	.	ENSG00000156574	7865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.36)	.	NODAL_HUMAN	NODAL	HGNC	.	.	UPI000013DE93	SNV	NODAL,missense_variant,p.Arg175Gly,ENST00000287139,;NODAL,missense_variant,p.Arg120Gly,ENST00000414871,;AC022532.1,synonymous_variant,p.%3D,ENST00000420338,;	523	131	127	SUCCESS
DLG5	9231	.	GRCh37	10	79556329	79556329	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775531975	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	63	140	1	ENST00000372391.2:c.5188C>T	p.Arg1730Trp	p.R1730W	ENST00000372391	NM_004747.3	1730	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7353.2	5188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGCTGAT	NONE	byFrequency	.	hmmpanther:PTHR13865,SMART_domains:SM00072	.	.	ENSP00000361467	.	28/32	.	.	.	.	.	.	.	.	rs775531975	28/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.329)	.	deleterious(0)	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,missense_variant,p.Arg691Trp,ENST00000424842,;DLG5,missense_variant,p.Arg1390Trp,ENST00000372388,;DLG5,missense_variant,p.Arg1730Trp,ENST00000372391,;RP13-39P12.3,downstream_gene_variant,,ENST00000434097,;RP13-39P12.3,downstream_gene_variant,,ENST00000601701,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;	5194	141	151	SUCCESS
MMP12	4321	.	GRCh37	11	102742631	102742631	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs782330806	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	29	85	0	ENST00000532855.1:n.499C>T		p.*167*	ENST00000532855				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGGATTGC	NONE	.	.	.	.	.	.	.	3/10	.	.	.	.	.	.	.	.	rs782330806	3/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MMP12	HGNC	.	.	.	SNV	MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;MMP12,non_coding_transcript_exon_variant,,ENST00000326227,;	499	85	113	SUCCESS
LDHC	3948	.	GRCh37	11	18467772	18467772	+	synonymous_variant	Silent	SNP	C	C	T	rs1240785602	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	95	0	ENST00000280704.4:c.726C>T	p.Ile242=	p.I242=	ENST00000280704	NM_017448.3	242	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS7840.1	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATCAAGCT	NONE	.	.	HAMAP:MF_00488,hmmpanther:PTHR11540,hmmpanther:PTHR11540:SF15,Gene3D:3.90.110.10,Pfam_domain:PF02866,TIGRFAM_domain:TIGR01771,PIRSF_domain:PIRSF000102,Superfamily_domains:SSF56327	.	.	ENSP00000437783	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000541669	Transcript	.	.	ENSG00000166796	6544	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDHC_HUMAN	LDHC	HGNC	G9BCZ1_HUMAN	.	UPI000013DC34	SNV	LDHC,synonymous_variant,p.%3D,ENST00000280704,;LDHC,synonymous_variant,p.%3D,ENST00000536880,;LDHC,synonymous_variant,p.%3D,ENST00000541669,;LDHC,intron_variant,,ENST00000535809,;LDHC,intron_variant,,ENST00000546146,;LDHC,intron_variant,,ENST00000544105,;LDHC,intron_variant,,ENST00000537486,;LDHC,3_prime_UTR_variant,,ENST00000396215,;LDHC,3_prime_UTR_variant,,ENST00000539369,;LDHC,intron_variant,,ENST00000545848,;RP11-613F22.7,downstream_gene_variant,,ENST00000535082,;	837	95	87	SUCCESS
PAMR1	25891	.	GRCh37	11	35456179	35456179	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	87	0	ENST00000278360.3:c.1558G>A	p.Ala520Thr	p.A520T	ENST00000278360	NM_015430.2	520	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7898.1	1558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCAGCCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24254:SF7,hmmpanther:PTHR24254,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000278360	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000278360	Transcript	.	.	ENSG00000149090	24554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0)	.	PAMR1_HUMAN	PAMR1	HGNC	E9PQ70_HUMAN	.	UPI000013DB70	SNV	PAMR1,missense_variant,p.Ala463Thr,ENST00000532848,;PAMR1,missense_variant,p.Ala503Thr,ENST00000378880,;PAMR1,missense_variant,p.Ala480Thr,ENST00000527605,;PAMR1,missense_variant,p.Ala392Thr,ENST00000378878,;PAMR1,missense_variant,p.Ala520Thr,ENST00000278360,;PAMR1,non_coding_transcript_exon_variant,,ENST00000531219,;	1596	87	112	SUCCESS
OR51F2	119694	.	GRCh37	11	4842843	4842843	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs557130556	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	38	56	0	ENST00000322110.5:c.228C>G	p.Phe76Leu	p.F76L	ENST00000322110	NM_001004753.1	76	ttC/ttG	0	.	T:0	.	T:0	.	G	F/L	protein_coding	YES	CCDS31361.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCCTCTC	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF87,Pfam_domain:PF10320,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	T:0	.	ENSP00000323952	T:0.001	1/1	.	.	.	.	.	.	.	.	rs557130556,COSM3448105	1/1	PASS	ENST00000322110	Transcript	.	T:0.0002	ENSG00000176925	15197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.977)	T:0	deleterious(0.03)	0,1	O51F2_HUMAN	OR51F2	HGNC	.	.	UPI000004B219	SNV	OR51F2,missense_variant,p.Phe76Leu,ENST00000322110,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	293	56	119	SUCCESS
OR5AN1	390195	.	GRCh37	11	59131963	59131963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	72	1	ENST00000313940.2:c.32C>T	p.Thr11Ile	p.T11I	ENST00000313940	NM_001004729.1	11	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS31559.1	32	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AATCACCTATT	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF262,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000320302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313940	Transcript	.	.	ENSG00000176495	15255	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.07)	.	O5AN1_HUMAN	OR5AN1	HGNC	.	.	UPI000004B1FD	SNV	OR5AN1,missense_variant,p.Thr11Ile,ENST00000313940,;	79	73	116	SUCCESS
CLEC7A	64581	.	GRCh37	12	10279240	10279240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	102	0	ENST00000304084.8:c.270G>T	p.Glu90Asp	p.E90D	ENST00000304084	NM_197947.2	90	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS41753.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCTCTTT	NONE	.	.	hmmpanther:PTHR22800:SF4,hmmpanther:PTHR22800	.	.	ENSP00000302569	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000304084	Transcript	.	.	ENSG00000172243	14558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.09)	.	CLC7A_HUMAN	CLEC7A	HGNC	.	.	UPI0000073FA0	SNV	CLEC7A,missense_variant,p.Glu90Asp,ENST00000304084,;CLEC7A,missense_variant,p.Glu90Asp,ENST00000533022,;CLEC7A,intron_variant,,ENST00000298523,;CLEC7A,intron_variant,,ENST00000353231,;CLEC7A,intron_variant,,ENST00000396484,;CLEC7A,downstream_gene_variant,,ENST00000525605,;CLEC7A,downstream_gene_variant,,ENST00000310002,;CLEC7A,missense_variant,p.Arg107Ile,ENST00000465100,;CLEC7A,missense_variant,p.Glu90Asp,ENST00000529761,;CLEC7A,missense_variant,p.Glu90Asp,ENST00000531192,;CLEC7A,non_coding_transcript_exon_variant,,ENST00000534609,;CLEC7A,intron_variant,,ENST00000528799,;CLEC7A,intron_variant,,ENST00000349926,;	425	102	96	SUCCESS
VPS37B	79720	.	GRCh37	12	123380577	123380585	+	inframe_deletion	In_Frame_Del	DEL	GGCGAACCG	GGCGAACCG	-	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	GGCGAACCG	GGCGAACCG	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	61	0	ENST00000267202.2:c.25_33del	p.Arg9_Ala11del	p.R9_A11del	ENST00000267202	NM_024667.2	9	CGGTTCGCC/-	0	.	.	.	.	.	-	RFA/-	protein_coding	YES	CCDS9239.1	25-33	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCCCGGCGAACCGGGCTT	NONE	.	.	hmmpanther:PTHR13678,hmmpanther:PTHR13678:SF9	.	.	ENSP00000267202	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000267202	Transcript	.	.	ENSG00000139722	25754	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VP37B_HUMAN	VPS37B	HGNC	.	.	UPI000006ED3B	deletion	VPS37B,inframe_deletion,p.Arg9_Ala11del,ENST00000267202,;VPS37B,inframe_deletion,p.Arg9_Ala11del,ENST00000535765,;	407-415	61	54	SUCCESS
TMEM132D	121256	.	GRCh37	12	130184653	130184653	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781773967	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	68	0	ENST00000422113.2:c.670G>A	p.Val224Met	p.V224M	ENST00000422113	NM_133448.2	224	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS9266.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGGGGG	NONE	byFrequency	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	2/9	.	.	.	.	.	.	.	.	rs781773967,COSM164979	2/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.973)	.	tolerated(0.15)	0,1	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Val224Met,ENST00000422113,;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	997	68	84	SUCCESS
DERA	51071	.	GRCh37	12	16109926	16109926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	87	0	ENST00000428559.2:c.88G>A	p.Glu30Lys	p.E30K	ENST00000428559	NM_015954.2	30	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44838.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGGAACAA	NONE	.	.	hmmpanther:PTHR10889:SF5,hmmpanther:PTHR10889	.	.	ENSP00000416583	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000428559	Transcript	.	.	ENSG00000023697	24269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.55)	.	DEOC_HUMAN	DERA	HGNC	G3V158_HUMAN,E9PPK3_HUMAN	.	UPI00001291A2	SNV	DERA,missense_variant,p.Glu51Lys,ENST00000531803,;DERA,missense_variant,p.Glu30Lys,ENST00000428559,;DERA,missense_variant,p.Glu30Lys,ENST00000532964,;DERA,5_prime_UTR_variant,,ENST00000524480,;DERA,5_prime_UTR_variant,,ENST00000526530,;DERA,5_prime_UTR_variant,,ENST00000533447,;DERA,missense_variant,p.Glu30Lys,ENST00000528821,;DERA,missense_variant,p.Glu30Lys,ENST00000526521,;	300	87	119	SUCCESS
CACNA1C-AS1	100652846	.	GRCh37	12	2787051	2787051	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs143343491	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	56	0	ENST00000501371.1:n.307C>A		p.*103*	ENST00000501371				0	A:0.0107	A:0.0106	.	A:0.0029	.	T	.	protein_coding	YES	CCDS44788.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	benign	ATGGCGCACTC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000266376	A:0	.	.	.	.	.	.	.	.	.	rs143343491	.	PASS	ENST00000347598	Transcript	.	A:0.0032	ENSG00000151067	1390	.	.	MODIFIER	43/48	PRIMARY	.	.	.	.	5	1	.	.	.	A:0	.	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,intron_variant,,ENST00000399644,;CACNA1C,intron_variant,,ENST00000399595,;CACNA1C,intron_variant,,ENST00000406454,;CACNA1C,intron_variant,,ENST00000399617,;CACNA1C,intron_variant,,ENST00000347598,;CACNA1C,intron_variant,,ENST00000402845,;CACNA1C,intron_variant,,ENST00000327702,;CACNA1C,intron_variant,,ENST00000399634,;CACNA1C,intron_variant,,ENST00000399641,;CACNA1C,intron_variant,,ENST00000399603,;CACNA1C,intron_variant,,ENST00000399629,;CACNA1C,intron_variant,,ENST00000399601,;CACNA1C,intron_variant,,ENST00000399597,;CACNA1C,intron_variant,,ENST00000399655,;CACNA1C,intron_variant,,ENST00000399606,;CACNA1C,intron_variant,,ENST00000399637,;CACNA1C,intron_variant,,ENST00000335762,;CACNA1C,intron_variant,,ENST00000399591,;CACNA1C,intron_variant,,ENST00000399621,;CACNA1C,intron_variant,,ENST00000399638,;CACNA1C,intron_variant,,ENST00000344100,;CACNA1C,intron_variant,,ENST00000399649,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C,downstream_gene_variant,,ENST00000465934,;	.	56	52	SUCCESS
KCNA1	3736	.	GRCh37	12	5021467	5021467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	83	0	ENST00000382545.3:c.923A>T	p.His308Leu	p.H308L	ENST00000382545	NM_000217.2	308	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS8535.1	923	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCACTCTA	NONE	.	.	Prints_domain:PR01491,Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,missense_variant,p.His308Leu,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	2030	83	74	SUCCESS
RACGAP1	29127	.	GRCh37	12	50386074	50386074	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758935582	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	61	0	ENST00000312377.5:c.1532A>G	p.Asn511Ser	p.N511S	ENST00000312377		511	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8795.1	1532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGATTGGGC	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23174:SF7,hmmpanther:PTHR23174,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000413241	.	15/18	.	.	.	.	.	.	.	.	rs758935582	15/18	PASS	ENST00000434422	Transcript	.	.	ENSG00000161800	9804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0.01)	.	RGAP1_HUMAN	RACGAP1	HGNC	F8W0L1_HUMAN,F8VZ66_HUMAN,F8VYH6_HUMAN,F8VWY4_HUMAN,F8VWX0_HUMAN,F8VV47_HUMAN,F8VV39_HUMAN,F8VV37_HUMAN,F8VUW9_HUMAN,F8VS54_HUMAN,F8VRL2_HUMAN,F8VRD2_HUMAN,F8VQZ5_HUMAN	.	UPI0000037CA0	SNV	RACGAP1,missense_variant,p.Asn511Ser,ENST00000312377,;RACGAP1,missense_variant,p.Asn247Ser,ENST00000549342,;RACGAP1,missense_variant,p.Asn511Ser,ENST00000454520,;RACGAP1,missense_variant,p.Asn511Ser,ENST00000547905,;RACGAP1,missense_variant,p.Asn511Ser,ENST00000434422,;RACGAP1,missense_variant,p.Asn511Ser,ENST00000427314,;RACGAP1,missense_variant,p.Asn511Ser,ENST00000551016,;RACGAP1,missense_variant,p.Asn21Ser,ENST00000548961,;RACGAP1,downstream_gene_variant,,ENST00000548320,;RACGAP1,downstream_gene_variant,,ENST00000547061,;RACGAP1,downstream_gene_variant,,ENST00000548598,;	1834	61	91	SUCCESS
LRP1	4035	.	GRCh37	12	57605033	57605033	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1373776309	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	71	0	ENST00000243077.3:c.12991A>T	p.Thr4331Ser	p.T4331S	ENST00000243077	NM_002332.2	4331	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS8932.1	12991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACTGCC	NONE	.	.	PROSITE_profiles:PS50026,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000243077	.	84/89	.	.	.	.	.	.	.	.	.	84/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Thr4331Ser,ENST00000243077,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;	13457	71	73	SUCCESS
ABHD13	84945	.	GRCh37	13	108881971	108881971	+	synonymous_variant	Silent	SNP	A	A	G	rs752456357	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	65	0	ENST00000375898.3:c.405A>G	p.Leu135=	p.L135=	ENST00000375898	NM_032859.2	135	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS32007.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTACTTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12277,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	rs752456357	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,synonymous_variant,p.%3D,ENST00000375898,;	706	65	116	SUCCESS
PROSER1	80209	.	GRCh37	13	39587824	39587824	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs546645213	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	101	0	ENST00000352251.3:c.1565C>T	p.Ser522Leu	p.S522L	ENST00000352251	NM_025138.4	522	tCa/tTa	0	.	A:0	.	A:0	.	A	S/L	protein_coding	YES	CCDS9368.2	1565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGATGGG	NONE	by1000G	.	hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2	A:0.001	.	ENSP00000332034	A:0	11/13	.	.	.	.	.	.	.	.	rs546645213	11/13	PASS	ENST00000352251	Transcript	.	A:0.0002	ENSG00000120685	20291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	A:0	tolerated_low_confidence(0.15)	.	PRSR1_HUMAN	PROSER1	HGNC	.	.	UPI00001FCC65	SNV	PROSER1,missense_variant,p.Ser522Leu,ENST00000352251,;PROSER1,missense_variant,p.Ser500Leu,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,upstream_gene_variant,,ENST00000492646,;PROSER1,downstream_gene_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000602899,;	2399	101	87	SUCCESS
LHFP	0	.	GRCh37	13	39952662	39952662	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	48	0	ENST00000379589.3:c.387C>G		p.X129_splice	ENST00000379589	NM_005780.2	129	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS9369.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12489:SF12,hmmpanther:PTHR12489,Pfam_domain:PF10242	.	.	ENSP00000368908	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000379589	Transcript	.	.	ENSG00000183722	6586	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHFP_HUMAN	LHFP	HGNC	.	.	UPI000006D140	SNV	LHFP,synonymous_variant,p.%3D,ENST00000379589,;	850	48	54	SUCCESS
GZMB	3002	.	GRCh37	14	25102229	25102229	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779606646	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	57	0	ENST00000216341.4:c.95G>A	p.Arg32His	p.R32H	ENST00000216341		32	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9633.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCGGGAG	NONE	byFrequency	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF15,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216341	.	2/5	.	.	.	.	.	.	.	.	rs779606646	2/5	PASS	ENST00000216341	Transcript	.	.	ENSG00000100453	4709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	tolerated(0.25)	.	GRAB_HUMAN	GZMB	HGNC	.	.	UPI000004E7FD	SNV	GZMB,missense_variant,p.Arg66His,ENST00000382542,;GZMB,missense_variant,p.Arg32His,ENST00000382540,;GZMB,missense_variant,p.Arg20His,ENST00000415355,;GZMB,missense_variant,p.Arg32His,ENST00000216341,;GZMB,missense_variant,p.Arg32His,ENST00000526004,;RP11-104E19.1,intron_variant,,ENST00000555300,;RP11-104E19.1,intron_variant,,ENST00000557736,;GZMB,missense_variant,p.Arg32His,ENST00000554242,;GZMB,3_prime_UTR_variant,,ENST00000530830,;GZMB,intron_variant,,ENST00000532263,;	202	57	75	SUCCESS
C14orf178	283579	.	GRCh37	14	78227340	78227340	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	72	0	ENST00000355883.3:c.-46G>A		p.*16*	ENST00000355883	NM_174943.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9868.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGGCCCA	NONE	.	.	.	.	.	ENSP00000348145	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000355883	Transcript	.	.	ENSG00000197734	26385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN178_HUMAN	C14orf178	HGNC	F8WAD5_HUMAN	.	UPI000007193A	SNV	C14orf178,5_prime_UTR_variant,,ENST00000439131,;C14orf178,5_prime_UTR_variant,,ENST00000556047,;C14orf178,5_prime_UTR_variant,,ENST00000557011,;C14orf178,5_prime_UTR_variant,,ENST00000355883,;SLIRP,3_prime_UTR_variant,,ENST00000557431,;SNW1,intron_variant,,ENST00000554775,;SNW1,intron_variant,,ENST00000555761,;SNW1,intron_variant,,ENST00000261531,;SNW1,intron_variant,,ENST00000554324,;AC008372.1,downstream_gene_variant,,ENST00000596936,;SLIRP,downstream_gene_variant,,ENST00000556375,;SNW1,intron_variant,,ENST00000556428,;SNW1,intron_variant,,ENST00000557663,;SLIRP,downstream_gene_variant,,ENST00000556310,;	164	72	70	SUCCESS
CYFIP1	23191	.	GRCh37	15	22940832	22940832	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	50	196	0	ENST00000313077.7:c.1097A>G	p.Tyr366Cys	p.Y366C	ENST00000313077	NM_014608.2	366	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10009.1	1097	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTACAGCA	NONE	.	.	hmmpanther:PTHR12195:SF2,hmmpanther:PTHR12195,PIRSF_domain:PIRSF008153	.	.	ENSP00000324549	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000313077	Transcript	.	.	ENSG00000068793	13759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0.03)	.	CYFP1_HUMAN	CYFIP1	HGNC	H0YLJ5_HUMAN,H0YL39_HUMAN	.	UPI0000163A89	SNV	CYFIP1,missense_variant,p.Tyr366Cys,ENST00000560848,;CYFIP1,missense_variant,p.Tyr366Cys,ENST00000313077,;	1222	196	176	SUCCESS
FBN1	2200	.	GRCh37	15	48736756	48736756	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1555395641	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	30	0	ENST00000316623.5:c.6019C>T	p.Gln2007Ter	p.Q2007*	ENST00000316623	NM_000138.4	2007	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS32232.1	6019	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGAAGAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57196,Superfamily_domains:SSF57196	.	.	ENSP00000325527	.	49/66	.	.	.	.	.	.	.	.	.	49/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,stop_gained,p.Gln2007Ter,ENST00000316623,;FBN1,stop_gained,p.Gln443Ter,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,non_coding_transcript_exon_variant,,ENST00000560820,;	6475	30	83	SUCCESS
SLC28A1	9154	.	GRCh37	15	85438806	85438806	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	41	0	ENST00000286749.3:c.461+452G>T		p.*154*	ENST00000286749	NM_001287762.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10334.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGATCTG	NONE	.	.	.	.	.	ENSP00000378074	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394573	Transcript	.	.	ENSG00000156222	11001	.	.	MODIFIER	6/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S28A1_HUMAN	SLC28A1	HGNC	.	.	UPI000013DE67	SNV	SLC28A1,3_prime_UTR_variant,,ENST00000338602,;SLC28A1,intron_variant,,ENST00000537703,;SLC28A1,intron_variant,,ENST00000394573,;SLC28A1,intron_variant,,ENST00000538177,;SLC28A1,intron_variant,,ENST00000537624,;SLC28A1,intron_variant,,ENST00000537216,;SLC28A1,intron_variant,,ENST00000286749,;	.	41	46	SUCCESS
FANCI	55215	.	GRCh37	15	89826381	89826381	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368127142	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	59	0	ENST00000310775.7:c.1598G>A	p.Arg533Gln	p.R533Q	ENST00000310775	NM_001113378.1	533	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS45346.1	1598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGAAAAT	NONE	byCluster	.	hmmpanther:PTHR21818,hmmpanther:PTHR21818:SF0,Pfam_domain:PF14676	.	A:0.0001	ENSP00000310842	.	17/38	.	.	.	.	.	.	.	.	rs368127142,COSM2015256,COSM2015255	17/38	PASS	ENST00000310775	Transcript	1	.	ENSG00000140525	25568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	FANCI_HUMAN	FANCI	HGNC	H3BT54_HUMAN,H3BS60_HUMAN,H3BQE2_HUMAN	.	UPI00001FEB1D	SNV	FANCI,missense_variant,p.Arg533Gln,ENST00000300027,;FANCI,missense_variant,p.Arg360Gln,ENST00000561894,;FANCI,missense_variant,p.Arg533Gln,ENST00000310775,;FANCI,intron_variant,,ENST00000565522,;FANCI,missense_variant,p.Arg533Gln,ENST00000447611,;FANCI,non_coding_transcript_exon_variant,,ENST00000564350,;FANCI,non_coding_transcript_exon_variant,,ENST00000566895,;	1684	59	64	SUCCESS
CDH8	1006	.	GRCh37	16	61935213	61935213	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	72	122	1	ENST00000577390.1:c.417G>C	p.Val139=	p.V139=	ENST00000577390	NM_001796.4	139	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS10802.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCACTGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000462701	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,synonymous_variant,p.%3D,ENST00000584337,;CDH8,synonymous_variant,p.%3D,ENST00000577390,;CDH8,synonymous_variant,p.%3D,ENST00000577730,;CDH8,synonymous_variant,p.%3D,ENST00000299345,;CDH8,synonymous_variant,p.%3D,ENST00000583382,;CDH8,downstream_gene_variant,,ENST00000577228,;CDH8,synonymous_variant,p.%3D,ENST00000585315,;CDH8,non_coding_transcript_exon_variant,,ENST00000584966,;	1372	123	122	SUCCESS
CDH1	999	.	GRCh37	16	68867249	68867250	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	71	25	81	0	ENST00000261769.5:c.2499dup	p.Asp834Ter	p.D834*	ENST00000261769	NM_004360.3	832	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS10869.1	2496-2497	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCGTGTTTGA	NONE	.	.	hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000261769	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	insertion	CDH1,frameshift_variant,p.Asp773Ter,ENST00000422392,;CDH1,frameshift_variant,p.Asp834Ter,ENST00000261769,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,3_prime_UTR_variant,,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,non_coding_transcript_exon_variant,,ENST00000562118,;	2687-2688	81	96	SUCCESS
ZNF18	7566	.	GRCh37	17	11881727	11881727	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	59	0	ENST00000322748.3:c.1197A>C	p.Pro399=	p.P399=	ENST00000322748	NM_144680.2	399	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32568.1	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTTGGCTG	NONE	.	.	hmmpanther:PTHR10032:SF11,hmmpanther:PTHR10032	.	.	ENSP00000315664	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000322748	Transcript	.	.	ENSG00000154957	12969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF18_HUMAN	ZNF18	HGNC	J3KSC1_HUMAN	.	UPI00000703B9	SNV	ZNF18,synonymous_variant,p.%3D,ENST00000454073,;ZNF18,synonymous_variant,p.%3D,ENST00000322748,;ZNF18,synonymous_variant,p.%3D,ENST00000577671,;ZNF18,synonymous_variant,p.%3D,ENST00000582607,;ZNF18,synonymous_variant,p.%3D,ENST00000580306,;ZNF18,intron_variant,,ENST00000580613,;RP11-1096G20.5,upstream_gene_variant,,ENST00000580270,;	1802	59	94	SUCCESS
GIT1	28964	.	GRCh37	17	27903137	27903137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374985717	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	116	0	ENST00000225394.3:c.1624G>A	p.Asp542Asn	p.D542N	ENST00000225394	NM_014030.3	542	Gac/Aac	0	T:0	.	.	.	.	T	D/N	protein_coding	YES	CCDS42290.1	1651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTCGTCCT	NONE	byCluster	.	hmmpanther:PTHR23180:SF193,hmmpanther:PTHR23180	.	T:0.0001	ENSP00000378338	.	16/21	.	.	.	.	.	.	.	.	rs374985717	16/21	PASS	ENST00000394869	Transcript	.	.	ENSG00000108262	4272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.16)	.	GIT1_HUMAN	GIT1	HGNC	Q59FC3_HUMAN,K7EIX6_HUMAN,B4DS81_HUMAN,B4DMF7_HUMAN	.	UPI0000E59EEC	SNV	GIT1,missense_variant,p.Asp542Asn,ENST00000225394,;GIT1,missense_variant,p.Asp551Asn,ENST00000394869,;GIT1,missense_variant,p.Asp551Asn,ENST00000581348,;GIT1,missense_variant,p.Asp542Asn,ENST00000579937,;GIT1,missense_variant,p.Asp5Asn,ENST00000578266,;TP53I13,downstream_gene_variant,,ENST00000583940,;GIT1,downstream_gene_variant,,ENST00000585148,;TP53I13,downstream_gene_variant,,ENST00000580183,;TP53I13,downstream_gene_variant,,ENST00000378818,;TP53I13,downstream_gene_variant,,ENST00000301057,;TP53I13,downstream_gene_variant,,ENST00000581411,;TP53I13,downstream_gene_variant,,ENST00000578749,;TP53I13,downstream_gene_variant,,ENST00000582829,;RP11-68I3.2,intron_variant,,ENST00000581474,;GIT1,missense_variant,p.Asp77Asn,ENST00000578670,;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,;GIT1,non_coding_transcript_exon_variant,,ENST00000491377,;GIT1,downstream_gene_variant,,ENST00000581925,;GIT1,downstream_gene_variant,,ENST00000586574,;GIT1,downstream_gene_variant,,ENST00000579536,;TP53I13,downstream_gene_variant,,ENST00000577934,;TP53I13,downstream_gene_variant,,ENST00000579674,;	1822	116	61	SUCCESS
HOXB4	3214	.	GRCh37	17	46655285	46655285	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs746214801	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	21	76	0	ENST00000332503.5:c.397del	p.His133ThrfsTer18	p.H133Tfs*18	ENST00000332503	NM_024015.4	133	Cac/ac	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS11529.1	397	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGAGTGGGACG	NONE	.	.	hmmpanther:PTHR24326:SF161,hmmpanther:PTHR24326	.	.	ENSP00000328928	.	1/2	.	.	.	.	.	.	.	.	rs746214801	1/2	PASS	ENST00000332503	Transcript	.	.	ENSG00000182742	5115	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HXB4_HUMAN	HOXB4	HGNC	.	.	UPI0000062329	deletion	HOXB4,frameshift_variant,p.His133ThrfsTer18,ENST00000332503,;HOXB3,intron_variant,,ENST00000476342,;HOXB3,intron_variant,,ENST00000472863,;HOXB3,intron_variant,,ENST00000489475,;HOXB3,intron_variant,,ENST00000465120,;HOXB3,intron_variant,,ENST00000460160,;HOXB3,intron_variant,,ENST00000498678,;HOXB3,upstream_gene_variant,,ENST00000485909,;HOXB3,upstream_gene_variant,,ENST00000490677,;HOXB3,upstream_gene_variant,,ENST00000311626,;MIR10A,downstream_gene_variant,,ENST00000385043,;HOXB-AS3,intron_variant,,ENST00000465846,;MIR10A,downstream_gene_variant,,ENST00000548801,;HOXB3,intron_variant,,ENST00000552000,;HOXB3,upstream_gene_variant,,ENST00000464266,;	2189	76	89	SUCCESS
CACNA1G	8913	.	GRCh37	17	48703836	48703836	+	synonymous_variant	Silent	SNP	C	C	T	rs764508368	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	26	197	0	ENST00000359106.5:c.6858C>T	p.Asp2286=	p.D2286=	ENST00000359106	NM_018896.4	2286	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS45730.1	6858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGACCCCTC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137	.	.	ENSP00000352011	.	38/38	.	.	.	.	.	.	.	.	rs764508368,COSM3783075,COSM3783074,COSM3783073	38/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000514181,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CTB-22K21.2,downstream_gene_variant,,ENST00000502435,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;	6858	197	134	SUCCESS
TBX2	6909	.	GRCh37	17	59482827	59482827	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	108	0	ENST00000240328.3:c.1316C>T	p.Ala439Val	p.A439V	ENST00000240328	NM_005994.3	439	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11627.2	1316	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11267:SF82,hmmpanther:PTHR11267	.	.	ENSP00000240328	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000240328	Transcript	.	.	ENSG00000121068	11597	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.044)	.	tolerated(0.16)	.	TBX2_HUMAN	TBX2	HGNC	.	.	UPI000020116F	SNV	TBX2,missense_variant,p.Ala439Val,ENST00000240328,;RP11-332H18.4,intron_variant,,ENST00000592009,;TBX2,upstream_gene_variant,,ENST00000586986,;TBX2,3_prime_UTR_variant,,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;	1597	108	81	SUCCESS
ATP8B1	5205	.	GRCh37	18	55315840	55315840	+	synonymous_variant	Silent	SNP	C	C	T	rs748084795	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	133	0	ENST00000283684.4:c.3636G>A	p.Ser1212=	p.S1212=	ENST00000283684		1212	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11965.1	3636	MUTECT|MUSE	.	TGGTGCGAGAA	NONE	.	.	hmmpanther:PTHR24092:SF48,hmmpanther:PTHR24092	.	.	ENSP00000445359	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000536015	Transcript	.	.	ENSG00000081923	3706	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT8B1_HUMAN	ATP8B1	HGNC	K7ERI0_HUMAN,K7EQC4_HUMAN	.	UPI000013DD54	SNV	ATP8B1,synonymous_variant,p.%3D,ENST00000283684,;ATP8B1,synonymous_variant,p.%3D,ENST00000536015,;RP11-35G9.3,intron_variant,,ENST00000599199,;RP11-35G9.5,intron_variant,,ENST00000588925,;RP11-35G9.3,intron_variant,,ENST00000591854,;RP11-35G9.3,intron_variant,,ENST00000592201,;	3756	133	86	SUCCESS
ATP8B3	148229	.	GRCh37	19	1796789	1796789	+	synonymous_variant	Silent	SNP	G	G	A	rs371568261	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	57	198	0	ENST00000310127.6:c.1674C>T	p.Asp558=	p.D558=	ENST00000310127	NM_138813.3	558	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS45901.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGTCCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710	.	A:0.0005	ENSP00000311336	.	16/29	.	.	.	.	.	.	.	.	rs371568261	16/29	PASS	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,synonymous_variant,p.%3D,ENST00000310127,;ATP8B3,synonymous_variant,p.%3D,ENST00000539485,;ATP8B3,synonymous_variant,p.%3D,ENST00000525591,;ATP8B3,downstream_gene_variant,,ENST00000526092,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000533107,;	1913	199	163	SUCCESS
ATP13A1	57130	.	GRCh37	19	19757110	19757110	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1457477879	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	33	148	0	ENST00000357324.6:c.3152A>G	p.Asn1051Ser	p.N1051S	ENST00000357324	NM_020410.2	1051	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS32970.2	3152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTTGAAG	NONE	.	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82,Transmembrane_helices:TMhelix	.	.	ENSP00000349877	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Asn933Ser,ENST00000291503,;ATP13A1,missense_variant,p.Asn1051Ser,ENST00000357324,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000203556,;GMIP,upstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000445806,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;ATP13A1,downstream_gene_variant,,ENST00000491221,;	3179	148	108	SUCCESS
CLASRP	11129	.	GRCh37	19	45570624	45570624	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	85	0	ENST00000221455.3:c.1439G>A	p.Arg480Lys	p.R480K	ENST00000221455	NM_007056.2	480	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS12652.2	1439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4	.	.	ENSP00000221455	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000221455	Transcript	.	.	ENSG00000104859	17731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.55)	.	CLASR_HUMAN	CLASRP	HGNC	K7EKC9_HUMAN	.	UPI000020262D	SNV	CLASRP,missense_variant,p.Arg418Lys,ENST00000391953,;CLASRP,missense_variant,p.Arg480Lys,ENST00000221455,;CLASRP,missense_variant,p.Arg480Lys,ENST00000544944,;ZNF296,downstream_gene_variant,,ENST00000303809,;CLASRP,upstream_gene_variant,,ENST00000591904,;CLASRP,missense_variant,p.Arg480Lys,ENST00000391952,;CLASRP,upstream_gene_variant,,ENST00000587472,;CLASRP,upstream_gene_variant,,ENST00000592876,;CLASRP,upstream_gene_variant,,ENST00000588070,;CLASRP,upstream_gene_variant,,ENST00000585432,;CLASRP,upstream_gene_variant,,ENST00000585615,;CLASRP,downstream_gene_variant,,ENST00000587112,;	1537	85	69	SUCCESS
LRRC4B	94030	.	GRCh37	19	51021449	51021449	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	46	0	ENST00000389201.3:c.1521G>T	p.Arg507=	p.R507=	ENST00000389201	NM_001080457.1	507	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42595.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCCGCGG	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF7	.	.	ENSP00000471502	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000599957	Transcript	.	.	ENSG00000131409	25042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC4B_HUMAN	LRRC4B	HGNC	M0R2G0_HUMAN,A0PJJ4_HUMAN	.	UPI00000497E7	SNV	LRRC4B,synonymous_variant,p.%3D,ENST00000599957,;LRRC4B,synonymous_variant,p.%3D,ENST00000389201,;LRRC4B,downstream_gene_variant,,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000376916,;ASPDH,upstream_gene_variant,,ENST00000389208,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000601287,;	1719	46	31	SUCCESS
CRB3	92359	.	GRCh37	19	6464625	6464625	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	16	0	ENST00000308243.7:c.-88C>T		p.*30*	ENST00000308243				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12166.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCCGTCGC	NONE	.	.	.	.	.	ENSP00000349204	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000356762	Transcript	.	.	ENSG00000130545	20237	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CRUM3_HUMAN	CRB3	HGNC	.	.	UPI00000389E7	SNV	CRB3,5_prime_UTR_variant,,ENST00000308243,;CRB3,5_prime_UTR_variant,,ENST00000600229,;CRB3,5_prime_UTR_variant,,ENST00000598494,;CRB3,5_prime_UTR_variant,,ENST00000356762,;SLC25A23,intron_variant,,ENST00000597307,;SLC25A23,upstream_gene_variant,,ENST00000301454,;DENND1C,downstream_gene_variant,,ENST00000381480,;SLC25A23,upstream_gene_variant,,ENST00000334510,;DENND1C,downstream_gene_variant,,ENST00000543576,;DENND1C,downstream_gene_variant,,ENST00000590867,;DENND1C,downstream_gene_variant,,ENST00000591795,;SLC25A23,upstream_gene_variant,,ENST00000595267,;SLC25A23,upstream_gene_variant,,ENST00000264088,;DENND1C,downstream_gene_variant,,ENST00000590444,;DENND1C,downstream_gene_variant,,ENST00000590818,;	75	16	15	SUCCESS
FHAD1	114827	.	GRCh37	1	15707915	15707915	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	50	159	0	ENST00000358897.4:c.3924G>T	p.Leu1308Phe	p.L1308F	ENST00000358897	NM_052929.1	1308	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	.	.	1629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGAGAGG	NONE	.	.	hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000318812	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000314668	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	FHAD1	HGNC	Q5JYW6_HUMAN	.	UPI00003728D4	SNV	FHAD1,missense_variant,p.Leu543Phe,ENST00000314668,;FHAD1,missense_variant,p.Leu561Phe,ENST00000314740,;FHAD1,missense_variant,p.Leu1272Phe,ENST00000417793,;FHAD1,missense_variant,p.Leu1308Phe,ENST00000358897,;FHAD1,missense_variant,p.Leu1308Phe,ENST00000375998,;FHAD1,missense_variant,p.Leu627Phe,ENST00000444385,;FHAD1,missense_variant,p.Leu1308Phe,ENST00000375999,;FHAD1,missense_variant,p.Leu579Phe,ENST00000529606,;FHAD1,non_coding_transcript_exon_variant,,ENST00000495195,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000477846,;FHAD1,upstream_gene_variant,,ENST00000472086,;FHAD1,missense_variant,p.Leu325Phe,ENST00000481324,;	1629	159	100	SUCCESS
FCRL5	83416	.	GRCh37	1	157504613	157504613	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	115	84	0	ENST00000361835.3:c.1472C>T	p.Thr491Ile	p.T491I	ENST00000361835	NM_001195388.1	491	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS1165.1	1472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGTCACA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.02)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Thr491Ile,ENST00000361835,;FCRL5,missense_variant,p.Thr491Ile,ENST00000368190,;FCRL5,missense_variant,p.Thr491Ile,ENST00000368189,;FCRL5,missense_variant,p.Thr491Ile,ENST00000356953,;FCRL5,missense_variant,p.Thr406Ile,ENST00000368191,;	1630	84	205	SUCCESS
POGK	57645	.	GRCh37	1	166818813	166818813	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	51	91	0	ENST00000367875.1:c.997G>A	p.Glu333Lys	p.E333K	ENST00000367875		333	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1254.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGGAAGAC	NONE	.	.	hmmpanther:PTHR19303:SF21,hmmpanther:PTHR19303	.	.	ENSP00000356849	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367875	Transcript	.	.	ENSG00000143157	18800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	tolerated(0.47)	.	POGK_HUMAN	POGK	HGNC	Q5TIJ2_HUMAN	.	UPI0000167816	SNV	POGK,missense_variant,p.Glu333Lys,ENST00000367876,;POGK,missense_variant,p.Glu248Lys,ENST00000536514,;POGK,missense_variant,p.Glu215Lys,ENST00000537173,;POGK,missense_variant,p.Glu333Lys,ENST00000367875,;POGK,downstream_gene_variant,,ENST00000449930,;	1357	91	105	SUCCESS
KLHDC7A	127707	.	GRCh37	1	18807799	18807799	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs748453865	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	13	298	0	ENST00000400664.1:c.328del	p.Ala110ProfsTer93	p.A110Pfs*93	ENST00000400664	NM_152375.2	108	acG/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS185.2	324	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCACGGGGGC	NONE	.	.	.	.	.	ENSP00000383505	.	1/1	.	.	.	.	.	.	.	.	rs748453865	1/1	PASS	ENST00000400664	Transcript	.	.	ENSG00000179023	26791	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLD7A_HUMAN	KLHDC7A	HGNC	A4FU39_HUMAN	.	UPI0000E0501F	deletion	KLHDC7A,frameshift_variant,p.Ala110ProfsTer93,ENST00000400664,;	376	298	161	SUCCESS
ELF3	1999	.	GRCh37	1	201981100	201981101	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	198	82	178	0	ENST00000359651.3:c.184dup	p.Glu62GlyfsTer30	p.E62Gfs*30	ENST00000359651		60	ttg/ttGg	0	.	.	.	.	.	G	L/LX	protein_coding	YES	CCDS1419.1	179-180	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGTTGGGGG	NONE	.	.	PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF13,Pfam_domain:PF02198,Gene3D:1.10.150.50,SMART_domains:SM00251,Superfamily_domains:SSF47769	.	.	ENSP00000352673	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000359651	Transcript	.	.	ENSG00000163435	3318	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELF3_HUMAN	ELF3	HGNC	.	.	UPI0000034E32	insertion	ELF3,frameshift_variant,p.Glu62GlyfsTer30,ENST00000367284,;ELF3,frameshift_variant,p.Glu62GlyfsTer30,ENST00000359651,;ELF3,frameshift_variant,p.Glu62GlyfsTer30,ENST00000367283,;ELF3,frameshift_variant,p.Glu60GlyfsTer30,ENST00000446188,;RP11-510N19.5,intron_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000490203,;ELF3,non_coding_transcript_exon_variant,,ENST00000495848,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,upstream_gene_variant,,ENST00000479874,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,upstream_gene_variant,,ENST00000470384,;	3371-3372	178	280	SUCCESS
ETNK2	55224	.	GRCh37	1	204116030	204116030	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	100	151	0	ENST00000367202.4:c.519-138G>A		p.*173*	ENST00000367202	NM_018208.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1442.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCCTTA	NONE	.	.	.	.	.	ENSP00000356170	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367202	Transcript	.	.	ENSG00000143845	25575	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EKI2_HUMAN	ETNK2	HGNC	Q5SXX4_HUMAN,B7Z1G7_HUMAN	.	UPI000007286B	SNV	ETNK2,missense_variant,p.Gly20Glu,ENST00000452983,;ETNK2,5_prime_UTR_variant,,ENST00000367198,;ETNK2,intron_variant,,ENST00000367199,;ETNK2,intron_variant,,ENST00000367201,;ETNK2,intron_variant,,ENST00000422699,;ETNK2,intron_variant,,ENST00000367202,;ETNK2,intron_variant,,ENST00000444817,;ETNK2,downstream_gene_variant,,ENST00000429525,;RP11-74C13.3,downstream_gene_variant,,ENST00000433869,;ETNK2,upstream_gene_variant,,ENST00000477125,;ETNK2,non_coding_transcript_exon_variant,,ENST00000472340,;	.	151	205	SUCCESS
RYR2	6262	.	GRCh37	1	237532889	237532889	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs727503396	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	11	60	0	ENST00000366574.2:c.365G>A	p.Arg122His	p.R122H	ENST00000366574	NM_001035.2	122	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS55691.1	365	MUTECT|MUSE|VARSCANS	uncertain_significance,likely_pathogenic	GCTGCGCCATT	NONE	.	.	Prints_domain:PR00795,Superfamily_domains:SSF82109,SMART_domains:SM00472,Pfam_domain:PF08709,Gene3D:2.80.10.50,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000355533	.	6/105	.	.	.	.	.	.	.	.	rs727503396,COSM39221	6/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	possibly_damaging(0.588)	.	.	0,1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Arg106His,ENST00000542537,;RYR2,missense_variant,p.Arg122His,ENST00000366574,;RYR2,missense_variant,p.Arg120His,ENST00000360064,;	682	60	121	SUCCESS
AHCTF1	25909	.	GRCh37	1	247007207	247007207	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs542305190	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	491	149	400	0	ENST00000326225.3:c.6442C>T	p.Gln2148Ter	p.Q2148*	ENST00000326225	NM_015446.4	2148	Cag/Tag	0	.	C:0	.	C:0	.	A	Q/*	protein_coding	YES	CCDS1629.2	6442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGTGCAG	NONE	by1000G	.	hmmpanther:PTHR21583	C:0	.	ENSP00000355465	C:0.001	34/36	.	.	.	.	.	.	.	.	rs542305190	34/36	PASS	ENST00000326225	Transcript	.	C:0.0002	ENSG00000153207	24618	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,stop_gained,p.Gln2139Ter,ENST00000391829,;AHCTF1,stop_gained,p.Gln2174Ter,ENST00000366508,;AHCTF1,stop_gained,p.Gln2148Ter,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,intron_variant,,ENST00000498601,;	6539	400	641	SUCCESS
CSMD2	114784	.	GRCh37	1	33999415	33999415	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	41	116	0	ENST00000241312.4:c.9540A>G	p.Gly3180=	p.G3180=	ENST00000241312		3180	ggA/ggG	0	.	.	.	.	.	C	G	nonsense_mediated_decay	YES	CCDS380.1	9540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTTCCACT	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	62/70	.	.	.	.	.	.	.	.	.	62/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	9569	116	74	SUCCESS
CYP4B1	1580	.	GRCh37	1	47276518	47276518	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	30	55	0	ENST00000271153.4:c.219G>T	p.Trp73Cys	p.W73C	ENST00000271153		73	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS41328.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGCCCA	NONE	.	.	hmmpanther:PTHR24290:SF43,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360991	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000371923	Transcript	.	.	ENSG00000142973	2644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	CP4B1_HUMAN	CYP4B1	HGNC	F5H1Q8_HUMAN,E7EME6_HUMAN	.	UPI0000073C54	SNV	CYP4B1,missense_variant,p.Trp73Cys,ENST00000371923,;CYP4B1,missense_variant,p.Trp73Cys,ENST00000271153,;CYP4B1,missense_variant,p.Trp73Cys,ENST00000371919,;CYP4B1,5_prime_UTR_variant,,ENST00000526297,;CYP4B1,upstream_gene_variant,,ENST00000468637,;CYP4B1,upstream_gene_variant,,ENST00000452782,;CYP4B1,non_coding_transcript_exon_variant,,ENST00000546128,;CYP4B1,missense_variant,p.Trp73Cys,ENST00000464439,;CYP4B1,missense_variant,p.Trp73Cys,ENST00000529715,;CYP4B1,intron_variant,,ENST00000534708,;CYP4B1,upstream_gene_variant,,ENST00000481248,;	255	55	53	SUCCESS
C1orf173	0	.	GRCh37	1	75039089	75039089	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201280072	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	26	0	ENST00000326665.5:c.2305C>A	p.Leu769Met	p.L769M	ENST00000326665	NM_001002912.4	769	Ctg/Atg	0	.	C:0	.	C:0	.	T	L/M	protein_coding	YES	CCDS30755.1	2305	MUTECT|MUSE	.	CTCCAGTGTAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23034	C:0.002	.	ENSP00000322609	C:0	14/15	.	.	.	.	.	.	.	.	rs201280072	14/15	PASS	ENST00000326665	Transcript	.	C:0.0004	ENSG00000178965	25346	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.442)	C:0	tolerated(0.06)	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,missense_variant,p.Leu769Met,ENST00000326665,;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	2524	26	47	SUCCESS
DUSP15	128853	.	GRCh37	20	30450384	30450384	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770925611	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	28	0	ENST00000278979.3:c.416G>A	p.Ser139Asn	p.S139N	ENST00000278979		139	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS13193.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAACTGGCC	NONE	.	.	hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF30,Gene3D:3.90.190.10	.	.	ENSP00000341658	.	6/7	.	.	.	.	.	.	.	.	rs770925611	6/7	PASS	ENST00000339738	Transcript	.	.	ENSG00000149599	16236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.52)	.	DUS15_HUMAN	DUSP15	HGNC	.	.	UPI0000129966	SNV	DUSP15,missense_variant,p.Ser142Asn,ENST00000339738,;DUSP15,missense_variant,p.Ser39Asn,ENST00000398084,;DUSP15,missense_variant,p.Ser39Asn,ENST00000486996,;DUSP15,missense_variant,p.Ser39Asn,ENST00000398083,;DUSP15,missense_variant,p.Ser139Asn,ENST00000278979,;DUSP15,missense_variant,p.Ser139Asn,ENST00000375966,;DUSP15,downstream_gene_variant,,ENST00000428829,;DUSP15,downstream_gene_variant,,ENST00000493115,;DUSP15,downstream_gene_variant,,ENST00000459848,;	835	29	41	SUCCESS
NFATC2	4773	.	GRCh37	20	50139906	50139906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	36	130	0	ENST00000396009.3:c.874G>T	p.Ala292Ser	p.A292S	ENST00000396009	NM_001258297.1	292	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13437.1	874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCGGGG	NONE	.	.	hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.72)	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,missense_variant,p.Ala292Ser,ENST00000396009,;NFATC2,missense_variant,p.Ala272Ser,ENST00000609943,;NFATC2,missense_variant,p.Ala292Ser,ENST00000371564,;NFATC2,missense_variant,p.Ala73Ser,ENST00000609507,;NFATC2,missense_variant,p.Ala73Ser,ENST00000610033,;NFATC2,missense_variant,p.Ala272Ser,ENST00000414705,;	1094	130	107	SUCCESS
PPP4R1L	55370	.	GRCh37	20	56846549	56846549	+	intron_variant,NMD_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	79	171	0	ENST00000493688.1:c.6+1276G>A		p.*2*	ENST00000493688				0	.	.	.	.	.	T	.	nonsense_mediated_decay	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCGCACT	NONE	.	.	.	.	.	ENSP00000435897	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000493688	Transcript	.	.	ENSG00000124224	15755	.	.	MODIFIER	4/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PPP4R1L	HGNC	Q96LY6_HUMAN	.	UPI0000072504	SNV	PPP4R1L,missense_variant,p.Arg73Gln,ENST00000244070,;PPP4R1L,missense_variant,p.Arg102Gln,ENST00000334187,;PPP4R1L,non_coding_transcript_exon_variant,,ENST00000475130,;PPP4R1L,non_coding_transcript_exon_variant,,ENST00000462333,;PPP4R1L,non_coding_transcript_exon_variant,,ENST00000495058,;PPP4R1L,intron_variant,,ENST00000493688,;	.	171	214	SUCCESS
LAMA5	3911	.	GRCh37	20	60910135	60910135	+	synonymous_variant	Silent	SNP	G	G	A	rs202180524	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	16	203	2	ENST00000252999.3:c.2424C>T	p.Cys808=	p.C808=	ENST00000252999	NM_005560.4	808	tgC/tgT	0	.	A:0	.	A:0	.	A	C	protein_coding	YES	CCDS33502.1	2424	RADIA|VARSCANS	.	GACGCGCAGGC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	A:0.004	.	ENSP00000252999	A:0	20/80	.	.	.	.	.	.	.	.	rs202180524	20/80	PASS	ENST00000252999	Transcript	.	A:0.0008	ENSG00000130702	6485	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,synonymous_variant,p.%3D,ENST00000252999,;MIR4758,upstream_gene_variant,,ENST00000577688,;LAMA5,3_prime_UTR_variant,,ENST00000474128,;	2491	205	162	SUCCESS
DSCAM	1826	.	GRCh37	21	41550882	41550882	+	synonymous_variant	Silent	SNP	G	G	A	rs200413358	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	96	0	ENST00000400454.1:c.2919C>T	p.Asn973=	p.N973=	ENST00000400454	NM_001271534.1	973	aaC/aaT	0	.	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS42929.1	2919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGTTGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	A:0	.	ENSP00000383303	A:0	15/33	.	.	.	.	.	.	.	.	rs200413358	15/33	PASS	ENST00000400454	Transcript	.	A:0.0002	ENSG00000171587	3039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,synonymous_variant,p.%3D,ENST00000404019,;DSCAM,synonymous_variant,p.%3D,ENST00000400454,;	3397	96	103	SUCCESS
DGCR14	0	.	GRCh37	22	19126717	19126717	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	66	0	ENST00000252137.6:c.777C>G	p.Ala259=	p.A259=	ENST00000252137	NM_022719.2	259	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13756.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGCTTG	NONE	.	.	hmmpanther:PTHR12940,Pfam_domain:PF09751	.	.	ENSP00000252137	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000252137	Transcript	.	.	ENSG00000100056	16817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGC14_HUMAN	DGCR14	HGNC	.	.	UPI0000129227	SNV	DGCR14,synonymous_variant,p.%3D,ENST00000252137,;DGCR14,synonymous_variant,p.%3D,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;DGCR14,downstream_gene_variant,,ENST00000469466,;	821	66	64	SUCCESS
TRIB2	28951	.	GRCh37	2	12864844	12864844	+	intron_variant	Intron	DEL	A	A	-	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	222	74	166	0	ENST00000155926.4:c.563+1166del		p.*188*	ENST00000155926	NM_021643.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1683.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTCCACCCTC	NONE	.	.	.	.	.	ENSP00000155926	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000155926	Transcript	.	.	ENSG00000071575	30809	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRIB2_HUMAN	TRIB2	HGNC	F8WA18_HUMAN	.	UPI0000051C55	deletion	TRIB2,frameshift_variant,p.His218ProfsTer?,ENST00000405331,;TRIB2,intron_variant,,ENST00000381465,;TRIB2,intron_variant,,ENST00000155926,;	.	166	296	SUCCESS
LRP1B	53353	.	GRCh37	2	141457818	141457818	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	43	0	ENST00000389484.3:c.6799+1G>A		p.X2267_splice	ENST00000389484	NM_018557.2	2267		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2182.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACTTTCA	NONE	.	.	.	.	.	ENSP00000374135	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	HIGH	41/90	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,splice_donor_variant,,ENST00000389484,;	.	43	68	SUCCESS
ACVR2A	92	.	GRCh37	2	148672850	148672853	+	frameshift_variant	Frame_Shift_Del	DEL	TGGA	TGGA	-	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	TGGA	TGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	83	65	99	0	ENST00000241416.7:c.619_622del	p.Trp207LysfsTer34	p.W207Kfs*34	ENST00000241416	NM_001616.4	207	TGGAaa/aa	0	.	.	.	.	.	-	WK/X	protein_coding	YES	CCDS33301.1	619-622	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGTCTGGAAAGCC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	deletion	ACVR2A,frameshift_variant,p.Trp207LysfsTer34,ENST00000241416,;ACVR2A,frameshift_variant,p.Trp207LysfsTer34,ENST00000404590,;ACVR2A,frameshift_variant,p.Trp99LysfsTer34,ENST00000535787,;	1255-1258	99	148	SUCCESS
NEUROD1	4760	.	GRCh37	2	182543445	182543445	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	70	0	ENST00000295108.3:c.143C>T	p.Ala48Val	p.A48V	ENST00000295108	NM_002500.4	48	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2283.1	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGCGTTC	BUFFER|p.N47N|c.141C>T|5	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19290:SF88,hmmpanther:PTHR19290,PIRSF_domain:PIRSF015618	.	.	ENSP00000295108	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295108	Transcript	.	.	ENSG00000162992	7762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.28)	.	NDF1_HUMAN	NEUROD1	HGNC	.	.	UPI000013E207	SNV	NEUROD1,missense_variant,p.Ala48Val,ENST00000295108,;AC013733.3,upstream_gene_variant,,ENST00000440371,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;CERKL,intron_variant,,ENST00000479558,;	601	70	64	SUCCESS
DIS3L2	129563	.	GRCh37	2	232880381	232880381	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	23	0	ENST00000325385.7:c.210G>A		p.X70_splice	ENST00000325385	NM_152383.4	70	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS42834.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAGGTGCT	NONE	.	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249	.	.	ENSP00000315569	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,synonymous_variant,p.%3D,ENST00000273009,;DIS3L2,synonymous_variant,p.%3D,ENST00000325385,;DIS3L2,synonymous_variant,p.%3D,ENST00000441279,;DIS3L2,synonymous_variant,p.%3D,ENST00000409401,;DIS3L2,synonymous_variant,p.%3D,ENST00000360410,;DIS3L2,synonymous_variant,p.%3D,ENST00000409307,;AC105461.1,non_coding_transcript_exon_variant,,ENST00000413841,;DIS3L2,upstream_gene_variant,,ENST00000470087,;DIS3L2,synonymous_variant,p.%3D,ENST00000445090,;DIS3L2,synonymous_variant,p.%3D,ENST00000433430,;DIS3L2,synonymous_variant,p.%3D,ENST00000390005,;DIS3L2,splice_region_variant,,ENST00000464554,;	486	23	63	SUCCESS
SLC1A4	6509	.	GRCh37	2	65248223	65248223	+	synonymous_variant	Silent	SNP	C	C	T	rs757797401	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	10	186	0	ENST00000234256.3:c.1542C>T	p.Asn514=	p.N514=	ENST00000234256	NM_003038.4	514	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS1879.1	1542	MUTECT|MUSE	.	CAGAACCCCGC	NONE	.	.	hmmpanther:PTHR11958:SF20,hmmpanther:PTHR11958	.	.	ENSP00000234256	.	8/8	.	.	.	.	.	.	.	.	rs757797401	8/8	PASS	ENST00000234256	Transcript	.	.	ENSG00000115902	10942	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SATT_HUMAN	SLC1A4	HGNC	.	.	UPI000000129F	SNV	SLC1A4,synonymous_variant,p.%3D,ENST00000531327,;SLC1A4,synonymous_variant,p.%3D,ENST00000234256,;SLC1A4,downstream_gene_variant,,ENST00000471551,;SLC1A4,downstream_gene_variant,,ENST00000493121,;SLC1A4,non_coding_transcript_exon_variant,,ENST00000480594,;	1785	186	174	SUCCESS
KIAA1211L	0	.	GRCh37	2	99439665	99439665	+	synonymous_variant	Silent	SNP	C	C	T	rs1396428801	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	83	0	ENST00000397899.2:c.1071G>A	p.Pro357=	p.P357=	ENST00000397899	NM_207362.2	357	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42720.1	1071	MUTECT|MUSE	.	TCCGGCGGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	.	.	ENSP00000380996	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000397899	Transcript	.	.	ENSG00000196872	33454	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K121L_HUMAN	KIAA1211L	HGNC	.	.	UPI0000E59245	SNV	KIAA1211L,synonymous_variant,p.%3D,ENST00000397899,;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;	1403	83	94	SUCCESS
ROBO1	6091	.	GRCh37	3	78706267	78706267	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	63	0	ENST00000464233.1:c.2595G>A	p.Glu865=	p.E865=	ENST00000464233	NM_002941.3	865	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS54611.1	2595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCTCACT	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000420321	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,synonymous_variant,p.%3D,ENST00000464233,;ROBO1,synonymous_variant,p.%3D,ENST00000495273,;ROBO1,synonymous_variant,p.%3D,ENST00000436010,;ROBO1,synonymous_variant,p.%3D,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,downstream_gene_variant,,ENST00000484514,;	2709	63	58	SUCCESS
NDST3	9348	.	GRCh37	4	119161760	119161760	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	60	0	ENST00000296499.5:c.2200G>A	p.Glu734Lys	p.E734K	ENST00000296499	NM_004784.2	734	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3708.1	2200	RADIA|MUTECT|MUSE	.	CCTCGGAGCTC	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296499	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000296499	Transcript	.	.	ENSG00000164100	7682	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.055)	.	tolerated(0.95)	.	NDST3_HUMAN	NDST3	HGNC	.	.	UPI0000071C44	SNV	NDST3,missense_variant,p.Glu734Lys,ENST00000296499,;NDST3,downstream_gene_variant,,ENST00000433996,;	2603	60	113	SUCCESS
LARP1B	55132	.	GRCh37	4	128999019	128999019	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	392	51	381	0	ENST00000326639.6:c.119del	p.Ser40IlefsTer13	p.S40Ifs*13	ENST00000326639	NM_018078.3	40	aGt/at	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS3738.1	119	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGAAGTAACA	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50	.	.	ENSP00000321997	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	deletion	LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000432347,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000441387,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000512292,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000427266,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000264584,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000326639,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000394288,;LARP1B,frameshift_variant,p.Ser9IlefsTer13,ENST00000507377,;LARP1B,frameshift_variant,p.Ser40IlefsTer13,ENST00000508819,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;	330	381	443	SUCCESS
SLC10A7	84068	.	GRCh37	4	147431063	147431063	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	107	0	ENST00000507030.1:c.320+2T>A		p.X107_splice	ENST00000507030		107		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34073.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATACCCTT	NONE	.	.	.	.	.	ENSP00000334594	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335472	Transcript	.	.	ENSG00000120519	23088	.	.	HIGH	3/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTCP7_HUMAN	SLC10A7	HGNC	B3KWW2_HUMAN	.	UPI000020B547	SNV	SLC10A7,splice_donor_variant,,ENST00000432059,;SLC10A7,splice_donor_variant,,ENST00000394059,;SLC10A7,splice_donor_variant,,ENST00000507030,;SLC10A7,splice_donor_variant,,ENST00000335472,;SLC10A7,splice_donor_variant,,ENST00000394062,;SLC10A7,intron_variant,,ENST00000264986,;SLC10A7,intron_variant,,ENST00000511374,;SLC10A7,downstream_gene_variant,,ENST00000502607,;SLC10A7,splice_donor_variant,,ENST00000511315,;SLC10A7,intron_variant,,ENST00000507560,;	.	107	120	SUCCESS
LRRC66	339977	.	GRCh37	4	52861214	52861214	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	34	0	ENST00000343457.3:c.1974C>T	p.Tyr658=	p.Y658=	ENST00000343457	NM_001024611.1	658	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS43229.1	1974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCGTATGG	NONE	.	.	.	.	.	ENSP00000341944	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343457	Transcript	.	.	ENSG00000188993	34299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC66_HUMAN	LRRC66	HGNC	.	.	UPI0000425C5B	SNV	LRRC66,synonymous_variant,p.%3D,ENST00000343457,;	1981	34	42	SUCCESS
PAQR3	152559	.	GRCh37	4	79851430	79851430	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	53	0	ENST00000511594.1:c.398C>T	p.Ser133Leu	p.S133L	ENST00000511594		133	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS34020.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGACCGA	NONE	.	.	hmmpanther:PTHR20855:SF25,hmmpanther:PTHR20855,Pfam_domain:PF03006	.	.	ENSP00000421981	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000512733	Transcript	.	.	ENSG00000163291	30130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	deleterious(0.03)	.	PAQR3_HUMAN	PAQR3	HGNC	.	.	UPI000015FC28	SNV	PAQR3,stop_gained,p.Gln79Ter,ENST00000295462,;PAQR3,missense_variant,p.Ser133Leu,ENST00000380645,;PAQR3,missense_variant,p.Ser133Leu,ENST00000512733,;PAQR3,non_coding_transcript_exon_variant,,ENST00000512299,;PAQR3,upstream_gene_variant,,ENST00000515541,;PAQR3,upstream_gene_variant,,ENST00000503343,;PAQR3,stop_gained,p.Gln79Ter,ENST00000512760,;PAQR3,stop_gained,p.Gln79Ter,ENST00000515853,;PAQR3,missense_variant,p.Ser133Leu,ENST00000511594,;PAQR3,missense_variant,p.Ser133Leu,ENST00000342820,;PAQR3,missense_variant,p.Ser133Leu,ENST00000395594,;PAQR3,3_prime_UTR_variant,,ENST00000508599,;PAQR3,non_coding_transcript_exon_variant,,ENST00000505735,;PAQR3,upstream_gene_variant,,ENST00000505715,;	612	53	105	SUCCESS
SEC31A	22872	.	GRCh37	4	83800020	83800020	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	119	265	0	ENST00000355196.2:c.265C>T	p.Leu89=	p.L89=	ENST00000355196		89	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3596.1	265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGAACTC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923	.	.	ENSP00000378721	.	4/27	.	.	.	.	.	.	.	.	COSM1541218,COSM1541219	4/27	PASS	ENST00000395310	Transcript	.	.	ENSG00000138674	17052	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SC31A_HUMAN	SEC31A	HGNC	U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN	.	UPI000003E7E1	SNV	SEC31A,synonymous_variant,p.%3D,ENST00000514326,;SEC31A,synonymous_variant,p.%3D,ENST00000448323,;SEC31A,synonymous_variant,p.%3D,ENST00000505984,;SEC31A,synonymous_variant,p.%3D,ENST00000311785,;SEC31A,synonymous_variant,p.%3D,ENST00000500777,;SEC31A,synonymous_variant,p.%3D,ENST00000395310,;SEC31A,synonymous_variant,p.%3D,ENST00000509142,;SEC31A,synonymous_variant,p.%3D,ENST00000503058,;SEC31A,synonymous_variant,p.%3D,ENST00000508502,;SEC31A,synonymous_variant,p.%3D,ENST00000505472,;SEC31A,synonymous_variant,p.%3D,ENST00000432794,;SEC31A,synonymous_variant,p.%3D,ENST00000513323,;SEC31A,synonymous_variant,p.%3D,ENST00000513858,;SEC31A,synonymous_variant,p.%3D,ENST00000355196,;SEC31A,synonymous_variant,p.%3D,ENST00000443462,;SEC31A,synonymous_variant,p.%3D,ENST00000508479,;SEC31A,synonymous_variant,p.%3D,ENST00000326950,;SEC31A,synonymous_variant,p.%3D,ENST00000348405,;SEC31A,downstream_gene_variant,,ENST00000505434,;SEC31A,downstream_gene_variant,,ENST00000503210,;SEC31A,downstream_gene_variant,,ENST00000507051,;SEC31A,downstream_gene_variant,,ENST00000506495,;SEC31A,downstream_gene_variant,,ENST00000507676,;SEC31A,non_coding_transcript_exon_variant,,ENST00000507867,;SEC31A,non_coding_transcript_exon_variant,,ENST00000510310,;SEC31A,non_coding_transcript_exon_variant,,ENST00000506497,;SEC31A,non_coding_transcript_exon_variant,,ENST00000511975,;SEC31A,non_coding_transcript_exon_variant,,ENST00000436790,;SEC31A,synonymous_variant,p.%3D,ENST00000507816,;SEC31A,3_prime_UTR_variant,,ENST00000507340,;	448	266	319	SUCCESS
AGPAT9	0	.	GRCh37	4	84502954	84502954	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	40	85	0	ENST00000264409.4:c.448A>T	p.Ile150Leu	p.I150L	ENST00000264409	NM_032717.4	150	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS3606.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCATAGTG	NONE	.	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF10	.	.	ENSP00000378651	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000395226	Transcript	.	.	ENSG00000138678	28157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	GPAT3_HUMAN	AGPAT9	HGNC	.	.	UPI000004B62F	SNV	AGPAT9,missense_variant,p.Ile150Leu,ENST00000395226,;AGPAT9,missense_variant,p.Ile150Leu,ENST00000264409,;	666	85	113	SUCCESS
SRFBP1	153443	.	GRCh37	5	121355923	121355923	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs374380607	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	53	123	0	ENST00000339397.4:c.493A>G	p.Ile165Val	p.I165V	ENST00000339397	NM_152546.2	165	Atc/Gtc	0	G:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS43354.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCATCAGT	NONE	byCluster	.	hmmpanther:PTHR23325	.	G:0.0001	ENSP00000341324	.	6/8	.	.	.	.	.	.	.	.	rs374380607	6/8	PASS	ENST00000339397	Transcript	.	.	ENSG00000151304	26333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.47)	.	SRFB1_HUMAN	SRFBP1	HGNC	.	.	UPI000006DEC3	SNV	SRFBP1,missense_variant,p.Ile165Val,ENST00000339397,;SRFBP1,upstream_gene_variant,,ENST00000504881,;	565	123	171	SUCCESS
TRPC7	57113	.	GRCh37	5	135692906	135692906	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1561733109	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	61	0	ENST00000513104.1:c.170C>T	p.Pro57Leu	p.P57L	ENST00000513104	NM_020389.2	57	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47267.2	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGGGATG	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Pro57Leu,ENST00000502753,;TRPC7,missense_variant,p.Pro57Leu,ENST00000378459,;TRPC7,missense_variant,p.Pro57Leu,ENST00000513104,;TRPC7,missense_variant,p.Pro57Leu,ENST00000426057,;TRPC7,missense_variant,p.Pro57Leu,ENST00000355180,;TRPC7,missense_variant,p.Pro57Leu,ENST00000352189,;TRPC7,missense_variant,p.Pro57Leu,ENST00000514963,;TRPC7,missense_variant,p.Pro57Leu,ENST00000503275,;	453	61	71	SUCCESS
C5orf38	153571	.	GRCh37	5	2752466	2752466	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs371003626	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	42	133	1	ENST00000334000.3:c.88C>T	p.Arg30Ter	p.R30*	ENST00000334000	NM_178569.2	30	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS34131.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCGAGGC	NONE	.	.	.	.	.	ENSP00000334267	.	1/4	.	.	.	.	.	.	.	.	rs371003626	1/4	PASS	ENST00000334000	Transcript	.	.	ENSG00000186493	24226	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEI_HUMAN	C5orf38	HGNC	B7ZL86_HUMAN	.	UPI0000160548	SNV	C5orf38,stop_gained,p.Arg30Ter,ENST00000334000,;C5orf38,stop_gained,p.Arg30Ter,ENST00000457752,;C5orf38,stop_gained,p.Arg30Ter,ENST00000397835,;C5orf38,stop_gained,p.Arg30Ter,ENST00000505778,;C5orf38,stop_gained,p.Arg30Ter,ENST00000515640,;IRX2,upstream_gene_variant,,ENST00000382611,;IRX2,upstream_gene_variant,,ENST00000302057,;IRX2,intron_variant,,ENST00000502957,;C5orf38,stop_gained,p.Arg30Ter,ENST00000503940,;C5orf38,stop_gained,p.Arg30Ter,ENST00000505106,;	205	134	138	SUCCESS
EMB	133418	.	GRCh37	5	49695712	49695712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	265	117	208	0	ENST00000303221.5:c.947T>C	p.Val316Ala	p.V316A	ENST00000303221	NM_198449.2	316	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3953.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGACATTA	NONE	.	.	hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4	.	.	ENSP00000302289	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000303221	Transcript	.	.	ENSG00000170571	30465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	EMB_HUMAN	EMB	HGNC	B7Z902_HUMAN	.	UPI0000160A6D	SNV	EMB,missense_variant,p.Val266Ala,ENST00000514111,;EMB,missense_variant,p.Val316Ala,ENST00000303221,;EMB,missense_variant,p.Val262Ala,ENST00000508934,;EMB,downstream_gene_variant,,ENST00000506190,;EMB,non_coding_transcript_exon_variant,,ENST00000505896,;	1163	208	382	SUCCESS
BRD9	65980	.	GRCh37	5	887508	887508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	67	0	ENST00000467963.1:c.685A>T	p.Ile229Phe	p.I229F	ENST00000467963	NM_023924.4	229	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS34127.2	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATCTTCT	NONE	.	.	Superfamily_domains:SSF47370,SMART_domains:SM00297,Gene3D:1.20.920.10,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4	.	.	ENSP00000419765	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000467963	Transcript	.	.	ENSG00000028310	25818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0)	.	BRD9_HUMAN	BRD9	HGNC	.	.	UPI000020BEBE	SNV	BRD9,missense_variant,p.Ile229Phe,ENST00000467963,;BRD9,missense_variant,p.Ile113Phe,ENST00000323510,;BRD9,missense_variant,p.Ile113Phe,ENST00000489093,;BRD9,missense_variant,p.Ile113Phe,ENST00000388890,;BRD9,missense_variant,p.Ile113Phe,ENST00000435709,;BRD9,missense_variant,p.Ile176Phe,ENST00000483173,;BRD9,upstream_gene_variant,,ENST00000519838,;BRD9,upstream_gene_variant,,ENST00000494422,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000466684,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;BRD9,downstream_gene_variant,,ENST00000487688,;BRD9,upstream_gene_variant,,ENST00000475706,;	852	67	66	SUCCESS
HIST1H3F	0	.	GRCh37	6	26250518	26250518	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	7	118	0	ENST00000446824.2:c.316G>A	p.Glu106Lys	p.E106K	ENST00000446824	NM_021018.2	106	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4600.1	316	MUTECT|MUSE	.	GTCCTCAAAGA	NONE	.	.	hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000444823	.	1/1	.	.	.	.	.	.	.	.	COSM3921203	1/1	PASS	ENST00000446824	Transcript	.	.	ENSG00000256316	4773	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	1	H31_HUMAN	HIST1H3F	HGNC	.	.	UPI00000003C7	SNV	HIST1H3F,missense_variant,p.Glu106Lys,ENST00000446824,;HIST1H4G,upstream_gene_variant,,ENST00000244537,;HIST1H2BH,upstream_gene_variant,,ENST00000356350,;	318	118	136	SUCCESS
BTN3A1	11119	.	GRCh37	6	26413353	26413353	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	34	55	0	ENST00000289361.6:c.1019-44G>A		p.*340*	ENST00000289361	NM_001145009.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4608.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAAAAA	NONE	.	.	.	.	.	ENSP00000289361	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000289361	Transcript	.	.	ENSG00000026950	1138	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A1_HUMAN	BTN3A1	HGNC	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN	.	UPI000013C904	SNV	BTN3A1,3_prime_UTR_variant,,ENST00000476549,;BTN3A1,intron_variant,,ENST00000414912,;BTN3A1,intron_variant,,ENST00000289361,;BTN3A1,downstream_gene_variant,,ENST00000425234,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000513047,;BTN3A1,intron_variant,,ENST00000082468,;BTN3A1,downstream_gene_variant,,ENST00000502361,;	.	55	125	SUCCESS
OR11A1	26531	.	GRCh37	6	29394996	29394996	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	62	0	ENST00000377147.2:c.423G>T	p.Arg141=	p.R141=	ENST00000377147	NM_013937.2	141	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34363.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTACCGTCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF178,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366354	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377149	Transcript	.	.	ENSG00000204694	8176	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O11A1_HUMAN	OR11A1	HGNC	.	.	UPI000000DCA8	SNV	OR11A1,synonymous_variant,p.%3D,ENST00000377149,;OR11A1,synonymous_variant,p.%3D,ENST00000377148,;OR11A1,synonymous_variant,p.%3D,ENST00000377147,;OR5V1,intron_variant,,ENST00000377154,;	896	62	113	SUCCESS
GFRAL	389400	.	GRCh37	6	55264182	55264182	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	82	159	0	ENST00000340465.2:c.1064C>T	p.Ala355Val	p.A355V	ENST00000340465	NM_207410.2	355	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4957.1	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGCTGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1	.	.	ENSP00000343636	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.13)	.	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,missense_variant,p.Ala355Val,ENST00000340465,;	1150	159	297	SUCCESS
DSP	1832	.	GRCh37	6	7585481	7585481	+	synonymous_variant	Silent	SNP	C	C	T	rs753720770	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	60	130	0	ENST00000379802.3:c.7986C>T	p.His2662=	p.H2662=	ENST00000379802	NM_004415.2	2662	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS4501.1	7986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCACCCAAC	NONE	byFrequency	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Pfam_domain:PF00681,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	24/24	.	.	.	.	.	.	.	.	rs753720770	24/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,synonymous_variant,p.%3D,ENST00000379802,;DSP,synonymous_variant,p.%3D,ENST00000418664,;SNRNP48,upstream_gene_variant,,ENST00000342415,;	8327	131	230	SUCCESS
NRCAM	4897	.	GRCh37	7	107875102	107875102	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	56	0	ENST00000379028.3:c.155C>A	p.Ser52Tyr	p.S52Y	ENST00000379028		52	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS47686.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGACTGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000368314	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,missense_variant,p.Ser52Tyr,ENST00000379022,;NRCAM,missense_variant,p.Ser46Tyr,ENST00000351718,;NRCAM,missense_variant,p.Ser46Tyr,ENST00000417701,;NRCAM,missense_variant,p.Ser52Tyr,ENST00000418239,;NRCAM,missense_variant,p.Ser46Tyr,ENST00000419936,;NRCAM,missense_variant,p.Ser52Tyr,ENST00000413765,;NRCAM,missense_variant,p.Ser46Tyr,ENST00000456431,;NRCAM,missense_variant,p.Ser52Tyr,ENST00000379024,;NRCAM,missense_variant,p.Ser52Tyr,ENST00000379028,;NRCAM,missense_variant,p.Ser52Tyr,ENST00000425651,;NRCAM,missense_variant,p.Ser52Tyr,ENST00000442580,;	626	56	87	SUCCESS
MALSU1	115416	.	GRCh37	7	23338995	23338995	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	7	83	0	ENST00000466681.1:c.24G>A	p.Ala8=	p.A8=	ENST00000466681	NM_138446.1	8	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5381.1	24	MUTECT|MUSE	.	GTGGCGCGGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000419370	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000466681	Transcript	.	.	ENSG00000156928	21721	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MASU1_HUMAN	MALSU1	HGNC	.	.	UPI000007180F	SNV	MALSU1,synonymous_variant,p.%3D,ENST00000466681,;MALSU1,intron_variant,,ENST00000479974,;MALSU1,non_coding_transcript_exon_variant,,ENST00000481564,;MALSU1,non_coding_transcript_exon_variant,,ENST00000287543,;	177	83	95	SUCCESS
ZNF804B	219578	.	GRCh37	7	88965702	88965702	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	59	1	ENST00000333190.4:c.3406C>T	p.His1136Tyr	p.H1136Y	ENST00000333190	NM_181646.2	1136	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS5613.1	3406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTCATAAA	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0.02)	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.His1136Tyr,ENST00000333190,;	4015	60	105	SUCCESS
DCSTAMP	81501	.	GRCh37	8	105360974	105360974	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149253106	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	16	62	0	ENST00000297581.2:c.194G>T	p.Trp65Leu	p.W65L	ENST00000297581	NM_030788.3	65	tGg/tTg	0	A:0.0005	.	.	.	.	T	W/L	protein_coding	YES	CCDS6301.1	194	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGGATTA	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	.	A:0	ENSP00000297581	.	2/4	.	.	.	.	.	.	.	.	rs149253106	2/4	PASS	ENST00000297581	Transcript	.	.	ENSG00000164935	18549	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.848)	.	deleterious(0)	.	DCSTP_HUMAN	DCSTAMP	HGNC	.	.	UPI000003BCB5	SNV	DCSTAMP,missense_variant,p.Trp65Leu,ENST00000297581,;DCSTAMP,missense_variant,p.Trp65Leu,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000517364,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	243	62	121	SUCCESS
KLHL38	340359	.	GRCh37	8	124659239	124659239	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1563591884	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	67	108	0	ENST00000325995.7:c.1366A>G	p.Arg456Gly	p.R456G	ENST00000325995	NM_001081675.2	456	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS43766.1	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTGGAAA	NONE	.	.	Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412	.	.	ENSP00000321475	.	2/3	.	.	.	.	.	.	.	.	COSM603905	2/3	PASS	ENST00000325995	Transcript	.	.	ENSG00000175946	34435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.007)	.	deleterious(0.03)	1	KLH38_HUMAN	KLHL38	HGNC	.	.	UPI00001D82D1	SNV	KLHL38,missense_variant,p.Arg456Gly,ENST00000325995,;CTD-2552K11.2,intron_variant,,ENST00000524355,;	1390	108	152	SUCCESS
NRG1	3084	.	GRCh37	8	32600258	32600258	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	42	0	ENST00000405005.3:c.700+665C>A		p.*234*	ENST00000405005				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6083.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTCCACTC	NONE	.	.	.	.	.	ENSP00000349275	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356819	Transcript	.	.	ENSG00000157168	7997	.	.	LOW	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRG1_HUMAN	NRG1	HGNC	Q7RTW5_HUMAN,B7Z168_HUMAN	.	UPI000013DED7	SNV	NRG1,missense_variant,p.Ser414Tyr,ENST00000520407,;NRG1,missense_variant,p.Ser288Tyr,ENST00000520502,;NRG1,splice_region_variant,,ENST00000519240,;NRG1,splice_region_variant,,ENST00000287842,;NRG1,splice_region_variant,,ENST00000523079,;NRG1,splice_region_variant,,ENST00000523534,;NRG1,splice_region_variant,,ENST00000287845,;NRG1,splice_region_variant,,ENST00000518084,;NRG1,splice_region_variant,,ENST00000519301,;NRG1,splice_region_variant,,ENST00000539990,;NRG1,splice_region_variant,,ENST00000356819,;NRG1,splice_region_variant,,ENST00000341377,;NRG1,splice_region_variant,,ENST00000518104,;NRG1,3_prime_UTR_variant,,ENST00000523041,;NRG1,3_prime_UTR_variant,,ENST00000518206,;NRG1,intron_variant,,ENST00000338921,;NRG1,intron_variant,,ENST00000405005,;NRG1,intron_variant,,ENST00000522402,;NRG1,intron_variant,,ENST00000521670,;NRG1,splice_region_variant,,ENST00000522569,;	.	42	46	SUCCESS
AGPAT5	55326	.	GRCh37	8	6566226	6566226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	35	0	ENST00000285518.6:c.37C>T	p.Arg13Cys	p.R13C	ENST00000285518	NM_018361.3	13	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS34796.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCGCTAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10983:SF17,hmmpanther:PTHR10983	.	.	ENSP00000285518	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000285518	Transcript	.	.	ENSG00000155189	20886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.161)	.	deleterious(0.01)	.	PLCE_HUMAN	AGPAT5	HGNC	Q6NUM7_HUMAN	.	UPI000003B4CB	SNV	AGPAT5,missense_variant,p.Ala5Val,ENST00000518327,;AGPAT5,missense_variant,p.Arg13Cys,ENST00000285518,;CTD-2541M15.1,upstream_gene_variant,,ENST00000527490,;CTD-2541M15.1,upstream_gene_variant,,ENST00000522897,;CTD-2541M15.1,upstream_gene_variant,,ENST00000525186,;AGPAT5,missense_variant,p.Arg13Cys,ENST00000523234,;AGPAT5,upstream_gene_variant,,ENST00000523586,;	349	35	20	SUCCESS
CPA6	57094	.	GRCh37	8	68658409	68658409	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs767794744	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	36	98	0	ENST00000297770.4:c.-45C>G		p.*15*	ENST00000297770	NM_020361.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGAGGCT	NONE	byFrequency	.	.	.	.	ENSP00000297770	.	1/11	.	.	.	.	.	.	.	.	rs767794744	1/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,5_prime_UTR_variant,,ENST00000297769,;CPA6,5_prime_UTR_variant,,ENST00000518549,;CPA6,5_prime_UTR_variant,,ENST00000297770,;CPA6,5_prime_UTR_variant,,ENST00000479862,;	172	98	142	SUCCESS
PREX2	80243	.	GRCh37	8	68965476	68965476	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751712561	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	55	106	0	ENST00000288368.4:c.1088G>A	p.Arg363Gln	p.R363Q	ENST00000288368	NM_024870.2	363	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6201.1	1088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGGAAAG	SITE|p.R363Q|c.1088G>A|3,SITE|p.R363Q|c.1088G>A|3	byFrequency	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00233	.	.	ENSP00000288368	.	9/40	.	.	.	.	.	.	.	.	rs751712561,COSM454782,COSM454783	9/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.984)	.	tolerated(0.05)	0,1,1	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Arg363Gln,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	1365	106	224	SUCCESS
TMEM246	0	.	GRCh37	9	104238338	104238338	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1470427127	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	97	0	ENST00000374851.1:c.1037G>A	p.Arg346Gln	p.R346Q	ENST00000374851		346	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6757.1	1037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCGGCGG	NONE	.	.	hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1	.	.	ENSP00000363984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374851	Transcript	.	.	ENSG00000165152	28180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	TM246_HUMAN	TMEM246	HGNC	.	.	UPI000006D08E	SNV	TMEM246,missense_variant,p.Arg346Gln,ENST00000374851,;TMEM246,missense_variant,p.Arg346Gln,ENST00000374847,;TMEM246,missense_variant,p.Arg346Gln,ENST00000374848,;RP11-490D19.6,intron_variant,,ENST00000425734,;RP11-490D19.6,intron_variant,,ENST00000431507,;RP11-490D19.6,intron_variant,,ENST00000450109,;RP11-490D19.6,intron_variant,,ENST00000424154,;	2185	97	110	SUCCESS
COL27A1	85301	.	GRCh37	9	117026681	117026681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	43	0	ENST00000356083.3:c.3242G>T	p.Gly1081Val	p.G1081V	ENST00000356083	NM_032888.2	1081	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6802.1	3242	MUTECT|MUSE	.	CAGGGGCCTGA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362,Pfam_domain:PF01391	.	.	ENSP00000348385	.	29/61	.	.	.	.	.	.	.	.	.	29/61	PASS	ENST00000356083	Transcript	.	.	ENSG00000196739	22986	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	.	.	CORA1_HUMAN	COL27A1	HGNC	.	.	UPI0000062271	SNV	COL27A1,missense_variant,p.Gly1081Val,ENST00000356083,;COL27A1,upstream_gene_variant,,ENST00000477421,;COL27A1,3_prime_UTR_variant,,ENST00000494090,;	3633	43	26	SUCCESS
NEK6	10783	.	GRCh37	9	127074820	127074820	+	synonymous_variant	Silent	SNP	G	G	A	rs766708819	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	83	0	ENST00000320246.5:c.123G>A	p.Ser41=	p.S41=	ENST00000320246	NM_014397.5	41	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS48015.1	225	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGCTGGC	NONE	.	.	hmmpanther:PTHR24362:SF212,hmmpanther:PTHR24362,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000362702	.	4/11	.	.	.	.	.	.	.	.	rs766708819,COSM3699267,COSM3699266	4/11	PASS	ENST00000373600	Transcript	.	.	ENSG00000119408	7749	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	NEK6_HUMAN	NEK6	HGNC	Q5TBH2_HUMAN,Q5TBH1_HUMAN,Q5TBG7_HUMAN,Q5TBG4_HUMAN,Q5TBG2_HUMAN,Q5TBG1_HUMAN	.	UPI000013ED34	SNV	NEK6,synonymous_variant,p.%3D,ENST00000546191,;NEK6,synonymous_variant,p.%3D,ENST00000373603,;NEK6,synonymous_variant,p.%3D,ENST00000540326,;NEK6,synonymous_variant,p.%3D,ENST00000447379,;NEK6,synonymous_variant,p.%3D,ENST00000394199,;NEK6,synonymous_variant,p.%3D,ENST00000425237,;NEK6,synonymous_variant,p.%3D,ENST00000373596,;NEK6,synonymous_variant,p.%3D,ENST00000320246,;NEK6,synonymous_variant,p.%3D,ENST00000422297,;NEK6,synonymous_variant,p.%3D,ENST00000539416,;NEK6,synonymous_variant,p.%3D,ENST00000545174,;NEK6,synonymous_variant,p.%3D,ENST00000423785,;NEK6,synonymous_variant,p.%3D,ENST00000373600,;NEK6,synonymous_variant,p.%3D,ENST00000444973,;NEK6,intron_variant,,ENST00000454453,;	440	84	38	SUCCESS
CACNA1B	774	.	GRCh37	9	141016411	141016411	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753876739	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	41	0	ENST00000371372.1:c.6980G>A	p.Arg2327Gln	p.R2327Q	ENST00000371372	NM_001243812.1	2327	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS59522.1	6980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGGCACA	NONE	byFrequency	.	.	.	.	ENSP00000360423	.	47/47	.	.	.	.	.	.	.	.	rs753876739	47/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.365)	.	tolerated(0.12)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Arg2328Gln,ENST00000371355,;CACNA1B,missense_variant,p.Arg2326Gln,ENST00000371357,;CACNA1B,missense_variant,p.Arg1521Gln,ENST00000277549,;CACNA1B,missense_variant,p.Arg2325Gln,ENST00000371363,;CACNA1B,missense_variant,p.Arg2327Gln,ENST00000371372,;CACNA1B,3_prime_UTR_variant,,ENST00000277551,;	7125	41	18	SUCCESS
TMEM2	0	.	GRCh37	9	74327050	74327050	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	91	0	ENST00000377044.4:c.2718C>G	p.Ser906=	p.S906=	ENST00000377044	NM_013390.2	906	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6638.1	2718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGAATT	NONE	.	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17,Superfamily_domains:SSF51126	.	.	ENSP00000366243	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000377044	Transcript	.	.	ENSG00000135048	11869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMEM2_HUMAN	TMEM2	HGNC	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN	.	UPI0000071E8D	SNV	TMEM2,synonymous_variant,p.%3D,ENST00000377066,;TMEM2,synonymous_variant,p.%3D,ENST00000377044,;TMEM2,synonymous_variant,p.%3D,ENST00000377043,;TMEM2,upstream_gene_variant,,ENST00000377055,;TMEM2,3_prime_UTR_variant,,ENST00000542935,;TMEM2,non_coding_transcript_exon_variant,,ENST00000537329,;	3258	91	97	SUCCESS
TLE1	7088	.	GRCh37	9	84202721	84202721	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	67	0	ENST00000376499.3:c.1852G>T	p.Gly618Ter	p.G618*	ENST00000376499	NM_005077.3	618	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS6661.1	1852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCGTCTG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR10814,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000365682	.	17/20	.	.	.	.	.	.	.	.	COSM754108,COSM1110439	17/20	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,stop_gained,p.Gly618Ter,ENST00000376499,;	2917	67	56	SUCCESS
ROR2	4920	.	GRCh37	9	94495533	94495533	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145631389	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	149	0	ENST00000375708.3:c.808A>G	p.Ile270Val	p.I270V	ENST00000375708	NM_004560.3	270	Atc/Gtc	0	C:0	.	.	.	.	C	I/V	protein_coding	YES	CCDS6691.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGATGGTGT	BUFFER|p.R272C|c.814C>T|3	byFrequency|byCluster	.	PIRSF_domain:PIRSF000624,Gene3D:2.40.20.10,Pfam_domain:PF01392,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50038	.	C:0.0002	ENSP00000364860	.	6/9	.	.	.	.	.	.	.	.	rs145631389	6/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.11)	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,missense_variant,p.Ile130Val,ENST00000375715,;ROR2,missense_variant,p.Ile270Val,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	1007	150	105	SUCCESS
FGD3	89846	.	GRCh37	9	95797700	95797700	+	synonymous_variant	Silent	SNP	G	G	T	rs766526163	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	153	0	ENST00000337352.6:c.2007G>T	p.Gly669=	p.G669=	ENST00000337352	NM_033086.2	669	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43849.1	2007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGGCATGT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000364631	.	18/18	.	.	.	.	.	.	.	.	rs766526163	18/18	PASS	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,synonymous_variant,p.%3D,ENST00000416701,;FGD3,synonymous_variant,p.%3D,ENST00000538555,;FGD3,synonymous_variant,p.%3D,ENST00000375482,;FGD3,synonymous_variant,p.%3D,ENST00000337352,;FGD3,downstream_gene_variant,,ENST00000488407,;FGD3,3_prime_UTR_variant,,ENST00000467786,;	2503	153	72	SUCCESS
XKRX	402415	.	GRCh37	X	100169977	100169977	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	235	8	154	0	ENST00000372956.2:c.700C>T	p.Arg234Cys	p.R234C	ENST00000372956		234	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS14476.2	700	MUTECT|MUSE	.	AAGGCGAATCT	NONE	.	.	hmmpanther:PTHR14297:SF4,hmmpanther:PTHR14297,Pfam_domain:PF09815	.	.	ENSP00000362047	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372956	Transcript	.	.	ENSG00000182489	29845	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.825)	.	deleterious(0)	.	XKR2_HUMAN	XKRX	HGNC	.	.	UPI00001A7F30	SNV	XKRX,missense_variant,p.Arg247Cys,ENST00000328526,;XKRX,missense_variant,p.Arg234Cys,ENST00000372956,;XKRX,3_prime_UTR_variant,,ENST00000468904,;LL0XNC01-131B10.2,downstream_gene_variant,,ENST00000447373,;	1305	154	243	SUCCESS
HCCS	3052	.	GRCh37	X	11132958	11132958	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1434929457	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	44	0	ENST00000321143.4:c.104G>T	p.Cys35Phe	p.C35F	ENST00000321143	NM_005333.4	35	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS14139.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGTCCAG	NONE	.	.	hmmpanther:PTHR12743,Pfam_domain:PF01265	.	.	ENSP00000326579	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000321143	Transcript	.	.	ENSG00000004961	4837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.02)	.	CCHL_HUMAN	HCCS	HGNC	.	.	UPI00001272B7	SNV	HCCS,missense_variant,p.Cys35Phe,ENST00000321143,;HCCS,missense_variant,p.Cys35Phe,ENST00000380763,;HCCS,missense_variant,p.Cys35Phe,ENST00000380762,;ARHGAP6,downstream_gene_variant,,ENST00000534860,;RP11-120D5.1,upstream_gene_variant,,ENST00000608576,;RP11-120D5.1,upstream_gene_variant,,ENST00000608176,;RP11-120D5.1,upstream_gene_variant,,ENST00000433747,;RP11-120D5.1,upstream_gene_variant,,ENST00000608916,;Y_RNA,downstream_gene_variant,,ENST00000384422,;	306	44	76	SUCCESS
TENM1	10178	.	GRCh37	X	123517915	123517915	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	61	70	0	ENST00000371130.3:c.6845A>C	p.His2282Pro	p.H2282P	ENST00000371130	NM_014253.3	2282	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS55488.1	6866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATGAGTA	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.His2289Pro,ENST00000422452,;TENM1,missense_variant,p.His2282Pro,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	6930	70	134	SUCCESS
SLITRK4	139065	.	GRCh37	X	142718857	142718857	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376093373	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	120	302	0	ENST00000338017.4:c.68C>T	p.Ser23Leu	p.S23L	ENST00000338017		23	tCg/tTg	0	A:0.0003	.	.	.	.	A	S/L	protein_coding	YES	CCDS14679.1	68	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGATATG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	.	A:0	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	rs376093373	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.57)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Ser23Leu,ENST00000381779,;SLITRK4,missense_variant,p.Ser23Leu,ENST00000338017,;SLITRK4,missense_variant,p.Ser23Leu,ENST00000356928,;	294	302	369	SUCCESS
SRPK3	26576	.	GRCh37	X	153049751	153049751	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	65	254	0	ENST00000370101.3:c.1150C>G	p.Pro384Ala	p.P384A	ENST00000370101	NM_001170760.1	384	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS35441.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCACCATTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF100,hmmpanther:PTHR24055,SMART_domains:SM00220	.	.	ENSP00000359119	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000370101	Transcript	.	.	ENSG00000184343	11402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	tolerated(0.17)	.	SRPK3_HUMAN	SRPK3	HGNC	.	.	UPI000050571A	SNV	SRPK3,missense_variant,p.Pro351Ala,ENST00000370108,;SRPK3,missense_variant,p.Pro309Ala,ENST00000370100,;SRPK3,missense_variant,p.Pro451Ala,ENST00000489426,;SRPK3,missense_variant,p.Pro350Ala,ENST00000393786,;SRPK3,missense_variant,p.Pro383Ala,ENST00000370104,;SRPK3,missense_variant,p.Pro384Ala,ENST00000370101,;IDH3G,downstream_gene_variant,,ENST00000454076,;PLXNB3,downstream_gene_variant,,ENST00000538966,;IDH3G,downstream_gene_variant,,ENST00000444450,;SRPK3,downstream_gene_variant,,ENST00000430541,;IDH3G,downstream_gene_variant,,ENST00000427365,;IDH3G,downstream_gene_variant,,ENST00000370093,;SRPK3,upstream_gene_variant,,ENST00000458681,;PLXNB3,downstream_gene_variant,,ENST00000538776,;IDH3G,downstream_gene_variant,,ENST00000217901,;IDH3G,downstream_gene_variant,,ENST00000370092,;PLXNB3,downstream_gene_variant,,ENST00000361971,;IDH3G,downstream_gene_variant,,ENST00000444338,;PLXNB3,downstream_gene_variant,,ENST00000472415,;IDH3G,downstream_gene_variant,,ENST00000497043,;IDH3G,downstream_gene_variant,,ENST00000495356,;IDH3G,downstream_gene_variant,,ENST00000461215,;PLXNB3,downstream_gene_variant,,ENST00000469190,;	1196	254	198	SUCCESS
DMD	1756	.	GRCh37	X	32235037	32235037	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	358	34	207	0	ENST00000357033.4:c.6434T>A	p.Leu2145His	p.L2145H	ENST00000357033	NM_004007.2	2145	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS14233.1	6434	MUTECT|MUSE|VARSCANS	.	CCTTAAGATAC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	44/79	.	.	.	.	.	.	.	.	.	44/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.938)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Leu2145His,ENST00000357033,;DMD,missense_variant,p.Leu2141His,ENST00000378677,;DMD,non_coding_transcript_exon_variant,,ENST00000488902,;	6641	207	392	SUCCESS
HDAC6	10013	.	GRCh37	X	48678643	48678643	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs186499554	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	98	0	ENST00000334136.5:c.2318G>T	p.Arg773Leu	p.R773L	ENST00000334136		773	cGc/cTc	0	A:0	A:0	.	A:0.0014	.	T	R/L	protein_coding	YES	CCDS14306.1	2318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGCATTA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10625:SF102,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,Superfamily_domains:SSF52768	A:0	A:0.0003	ENSP00000334061	A:0	23/29	.	.	.	.	.	.	.	.	rs186499554	23/29	PASS	ENST00000334136	Transcript	.	A:0.0003	ENSG00000094631	14064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	A:0	deleterious(0)	.	HDAC6_HUMAN	HDAC6	HGNC	E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN	.	UPI0000073E04	SNV	HDAC6,missense_variant,p.Arg773Leu,ENST00000376619,;HDAC6,missense_variant,p.Arg773Leu,ENST00000334136,;HDAC6,missense_variant,p.Arg787Leu,ENST00000444343,;HDAC6,upstream_gene_variant,,ENST00000430858,;HDAC6,non_coding_transcript_exon_variant,,ENST00000498808,;HDAC6,intron_variant,,ENST00000480525,;HDAC6,downstream_gene_variant,,ENST00000486665,;HDAC6,non_coding_transcript_exon_variant,,ENST00000477528,;HDAC6,non_coding_transcript_exon_variant,,ENST00000486227,;HDAC6,non_coding_transcript_exon_variant,,ENST00000488543,;HDAC6,downstream_gene_variant,,ENST00000495515,;HDAC6,downstream_gene_variant,,ENST00000485102,;HDAC6,downstream_gene_variant,,ENST00000478095,;HDAC6,downstream_gene_variant,,ENST00000488905,;HDAC6,downstream_gene_variant,,ENST00000470942,;HDAC6,downstream_gene_variant,,ENST00000483506,;HDAC6,downstream_gene_variant,,ENST00000465457,;HDAC6,downstream_gene_variant,,ENST00000489053,;	2496	98	87	SUCCESS
TIMM17B	10245	.	GRCh37	X	48755074	48755074	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	121	0	ENST00000376582.3:c.-42C>T		p.*14*	ENST00000376582	NM_005834.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55411.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGTAGAC	NONE	.	.	.	.	.	ENSP00000379999	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000396779	Transcript	.	.	ENSG00000126768	17310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TI17B_HUMAN	TIMM17B	HGNC	.	.	UPI000153D6AD	SNV	TIMM17B,5_prime_UTR_variant,,ENST00000396779,;TIMM17B,5_prime_UTR_variant,,ENST00000376582,;PQBP1,upstream_gene_variant,,ENST00000218224,;PQBP1,upstream_gene_variant,,ENST00000396763,;PQBP1,upstream_gene_variant,,ENST00000376548,;TIMM17B,upstream_gene_variant,,ENST00000490755,;PQBP1,upstream_gene_variant,,ENST00000376563,;PQBP1,upstream_gene_variant,,ENST00000456306,;TIMM17B,upstream_gene_variant,,ENST00000495490,;PQBP1,upstream_gene_variant,,ENST00000247140,;TIMM17B,upstream_gene_variant,,ENST00000465150,;PQBP1,upstream_gene_variant,,ENST00000443648,;PQBP1,upstream_gene_variant,,ENST00000376566,;PQBP1,upstream_gene_variant,,ENST00000447146,;PQBP1,upstream_gene_variant,,ENST00000474671,;PQBP1,upstream_gene_variant,,ENST00000470062,;PQBP1,upstream_gene_variant,,ENST00000463529,;TIMM17B,upstream_gene_variant,,ENST00000472645,;PQBP1,upstream_gene_variant,,ENST00000470059,;PQBP1,upstream_gene_variant,,ENST00000473764,;PQBP1,upstream_gene_variant,,ENST00000472742,;PQBP1,upstream_gene_variant,,ENST00000465859,;PQBP1,upstream_gene_variant,,ENST00000486150,;PQBP1,upstream_gene_variant,,ENST00000477997,;TIMM17B,upstream_gene_variant,,ENST00000466995,;TIMM17B,upstream_gene_variant,,ENST00000464663,;	108	121	104	SUCCESS
KIAA2022	0	.	GRCh37	X	73963443	73963443	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	70	99	0	ENST00000055682.6:c.949T>G	p.Phe317Val	p.F317V	ENST00000055682	NM_001008537.2	317	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS35337.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAAGGATT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,missense_variant,p.Phe317Val,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	1561	99	195	SUCCESS
SCD	6319	.	GRCh37	10	102107055	102107055	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	44	0	ENST00000370355.2:c.-207A>G		p.*69*	ENST00000370355	NM_005063.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7493.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACACGGTC	NONE	.	.	.	.	.	ENSP00000359380	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000370355	Transcript	.	.	ENSG00000099194	10571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOD_HUMAN	SCD	HGNC	.	.	UPI00001252D2	SNV	SCD,5_prime_UTR_variant,,ENST00000370355,;RP11-34D15.2,upstream_gene_variant,,ENST00000429420,;	175	44	33	SUCCESS
OPTN	10133	.	GRCh37	10	13154620	13154620	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	104	0	ENST00000263036.5:c.537T>G	p.Val179=	p.V179=	ENST00000263036		179	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS7094.1	537	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTGAAAT	NONE	.	.	hmmpanther:PTHR31553:SF2,hmmpanther:PTHR31553	.	.	ENSP00000368022	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000378748	Transcript	1	.	ENSG00000123240	17142	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OPTN_HUMAN	OPTN	HGNC	.	.	UPI000013D38D	SNV	OPTN,synonymous_variant,p.%3D,ENST00000378748,;OPTN,synonymous_variant,p.%3D,ENST00000378764,;OPTN,synonymous_variant,p.%3D,ENST00000378757,;OPTN,synonymous_variant,p.%3D,ENST00000378752,;OPTN,synonymous_variant,p.%3D,ENST00000430081,;OPTN,synonymous_variant,p.%3D,ENST00000263036,;OPTN,synonymous_variant,p.%3D,ENST00000378747,;OPTN,upstream_gene_variant,,ENST00000424614,;OPTN,non_coding_transcript_exon_variant,,ENST00000482140,;OPTN,non_coding_transcript_exon_variant,,ENST00000486862,;OPTN,downstream_gene_variant,,ENST00000487935,;	899	104	96	SUCCESS
PCDH15	65217	.	GRCh37	10	55566853	55566853	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762452325	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	36	0	ENST00000373965.2:c.4541G>A	p.Arg1514Gln	p.R1514Q	ENST00000373965	NM_001142772.1	1514	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	.	.	4532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCGATCA	NONE	.	.	.	.	.	ENSP00000410304	.	35/35	.	.	.	.	.	.	.	.	rs762452325	35/35	PASS	ENST00000414778	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated_low_confidence(0.09)	.	.	PCDH15	HGNC	C9J4F3_HUMAN	.	UPI0001AE6DA9	SNV	PCDH15,missense_variant,p.Arg1511Gln,ENST00000414778,;PCDH15,missense_variant,p.Arg1514Gln,ENST00000373965,;PCDH15,downstream_gene_variant,,ENST00000395440,;PCDH15,downstream_gene_variant,,ENST00000395445,;PCDH15,downstream_gene_variant,,ENST00000395438,;PCDH15,downstream_gene_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000395442,;PCDH15,downstream_gene_variant,,ENST00000395446,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,non_coding_transcript_exon_variant,,ENST00000476074,;PCDH15,downstream_gene_variant,,ENST00000414367,;	4927	36	66	SUCCESS
CDHR1	92211	.	GRCh37	10	85974200	85974200	+	synonymous_variant	Silent	SNP	G	G	T	rs775599755	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1019	20	1300	1	ENST00000372117.3:c.2403G>T	p.Ala801=	p.A801=	ENST00000372117	NM_033100.3	801	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7372.1	2403	MUTECT|MUSE	.	GTGGCGCCCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000361189	.	17/17	.	.	.	.	.	.	.	.	rs775599755	17/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,synonymous_variant,p.%3D,ENST00000440770,;CDHR1,synonymous_variant,p.%3D,ENST00000372117,;CDHR1,intron_variant,,ENST00000332904,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;	2506	1301	1039	SUCCESS
BTAF1	9044	.	GRCh37	10	93683796	93683796	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs778644526	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	61	0	ENST00000265990.6:c.-38G>A		p.*13*	ENST00000265990	NM_003972.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCGTAGGT	NONE	.	.	.	.	.	ENSP00000265990	.	1/38	.	.	.	.	.	.	.	.	rs778644526	1/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,5_prime_UTR_variant,,ENST00000265990,;	271	61	69	SUCCESS
KDELC2	0	.	GRCh37	11	108369075	108369075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	43	0	ENST00000323468.5:c.19G>T	p.Ala7Ser	p.A7S	ENST00000323468	NM_153705.4	7	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41711.1	19	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCGCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12203:SF18,hmmpanther:PTHR12203	.	.	ENSP00000315386	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000323468	Transcript	.	.	ENSG00000178202	28496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.84)	.	KDEL2_HUMAN	KDELC2	HGNC	B2R8W4_HUMAN	.	UPI0000456580	SNV	KDELC2,missense_variant,p.Ala7Ser,ENST00000323468,;	85	43	22	SUCCESS
EIF3M	10480	.	GRCh37	11	32622379	32622379	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	43	0	ENST00000531120.1:c.943+1G>T		p.X315_splice	ENST00000531120	NM_006360.4	315		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7880.1	.	MUTECT|MUSE	.	TGACGGTAAGG	NONE	.	.	.	.	.	ENSP00000436049	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000531120	Transcript	.	.	ENSG00000149100	24460	.	.	HIGH	9/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3M_HUMAN	EIF3M	HGNC	J3KNJ2_HUMAN,E9PN86_HUMAN	.	UPI0000070F8A	SNV	EIF3M,splice_donor_variant,,ENST00000531120,;EIF3M,splice_donor_variant,,ENST00000526267,;EIF3M,splice_donor_variant,,ENST00000524896,;CCDC73,downstream_gene_variant,,ENST00000528333,;CCDC73,downstream_gene_variant,,ENST00000335185,;EIF3M,downstream_gene_variant,,ENST00000323213,;EIF3M,splice_donor_variant,,ENST00000525054,;EIF3M,3_prime_UTR_variant,,ENST00000525782,;EIF3M,downstream_gene_variant,,ENST00000524711,;EIF3M,downstream_gene_variant,,ENST00000531921,;	.	43	39	SUCCESS
HIPK3	10114	.	GRCh37	11	33308510	33308510	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	87	0	ENST00000303296.4:c.550T>A	p.Leu184Ile	p.L184I	ENST00000303296	NM_005734.4	184	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS7884.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTTAGTA	NONE	.	.	Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058	.	.	ENSP00000304226	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.01)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Leu184Ile,ENST00000525975,;HIPK3,missense_variant,p.Leu184Ile,ENST00000456517,;HIPK3,missense_variant,p.Leu184Ile,ENST00000379016,;HIPK3,missense_variant,p.Leu184Ile,ENST00000303296,;HIPK3,downstream_gene_variant,,ENST00000531504,;	855	87	82	SUCCESS
EPS8L2	64787	.	GRCh37	11	720644	720644	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	33	131	0	ENST00000318562.8:c.375G>C	p.Thr125=	p.T125=	ENST00000318562	NM_022772.3	125	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31328.1	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGTCCT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00462,Gene3D:2.30.29.30,Pfam_domain:PF08416,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF20,PROSITE_profiles:PS01179	.	.	ENSP00000435585	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000533256	Transcript	.	.	ENSG00000177106	21296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ES8L2_HUMAN	EPS8L2	HGNC	E9PNY4_HUMAN,E9PNT0_HUMAN,E9PN68_HUMAN,E9PLN2_HUMAN,E9PLH1_HUMAN	.	UPI000006226C	SNV	EPS8L2,synonymous_variant,p.%3D,ENST00000318562,;EPS8L2,synonymous_variant,p.%3D,ENST00000530636,;EPS8L2,synonymous_variant,p.%3D,ENST00000526198,;EPS8L2,synonymous_variant,p.%3D,ENST00000533256,;EPS8L2,downstream_gene_variant,,ENST00000533500,;EPS8L2,downstream_gene_variant,,ENST00000534755,;EPS8L2,downstream_gene_variant,,ENST00000531348,;EPS8L2,downstream_gene_variant,,ENST00000524763,;AP006621.9,intron_variant,,ENST00000527021,;EPS8L2,3_prime_UTR_variant,,ENST00000526909,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000524474,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000529346,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000530118,;EPS8L2,upstream_gene_variant,,ENST00000531393,;EPS8L2,upstream_gene_variant,,ENST00000526651,;EPS8L2,downstream_gene_variant,,ENST00000527807,;EPS8L2,upstream_gene_variant,,ENST00000527832,;EPS8L2,upstream_gene_variant,,ENST00000532545,;EPS8L2,upstream_gene_variant,,ENST00000533816,;EPS8L2,upstream_gene_variant,,ENST00000531471,;EPS8L2,upstream_gene_variant,,ENST00000528770,;EPS8L2,upstream_gene_variant,,ENST00000530452,;	750	131	64	SUCCESS
ARRB1	408	.	GRCh37	11	74987895	74987895	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	109	2	ENST00000420843.2:c.764T>C	p.Met255Thr	p.M255T	ENST00000420843	NM_004041.4	255	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS44684.1	764	RADIA|SOMATICSNIPER|VARSCANS	.	CTTCCATGGCA	NONE	.	.	hmmpanther:PTHR11792:SF22,hmmpanther:PTHR11792,Pfam_domain:PF02752,Gene3D:1g4mB02,SMART_domains:SM01017,Superfamily_domains:SSF81296	.	.	ENSP00000409581	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000420843	Transcript	.	.	ENSG00000137486	711	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.65)	.	ARRB1_HUMAN	ARRB1	HGNC	.	.	UPI0000126076	SNV	ARRB1,missense_variant,p.Met250Thr,ENST00000532525,;ARRB1,missense_variant,p.Met255Thr,ENST00000360025,;ARRB1,missense_variant,p.Met255Thr,ENST00000420843,;ARRB1,missense_variant,p.Met80Thr,ENST00000532447,;ARRB1,missense_variant,p.Met255Thr,ENST00000393505,;ARRB1,non_coding_transcript_exon_variant,,ENST00000529741,;ARRB1,downstream_gene_variant,,ENST00000527385,;ARRB1,downstream_gene_variant,,ENST00000530086,;ARRB1,upstream_gene_variant,,ENST00000531012,;ARRB1,downstream_gene_variant,,ENST00000529280,;ARRB1,downstream_gene_variant,,ENST00000533609,;ARRB1,downstream_gene_variant,,ENST00000524400,;	862	111	72	SUCCESS
WEE1	7465	.	GRCh37	11	9606816	9606816	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147537355	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	60	0	ENST00000450114.2:c.1300A>G	p.Ile434Val	p.I434V	ENST00000450114	NM_003390.3	434	Ata/Gta	0	G:0	T:0.0015	.	T:0	.	G	I/V	protein_coding	YES	CCDS7800.1	1300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCATATCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF037281,Superfamily_domains:SSF56112	T:0	G:0.0001	ENSP00000402084	T:0	7/11	.	.	.	.	.	.	.	.	rs147537355	7/11	PASS	ENST00000450114	Transcript	.	T:0.0004	ENSG00000166483	12761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	T:0	tolerated(0.05)	.	WEE1_HUMAN	WEE1	HGNC	E9PRU3_HUMAN	.	UPI0000138EF4	SNV	WEE1,missense_variant,p.Ile62Val,ENST00000524612,;WEE1,missense_variant,p.Ile220Val,ENST00000299613,;WEE1,missense_variant,p.Ile40Val,ENST00000530712,;WEE1,missense_variant,p.Ile434Val,ENST00000450114,;WEE1,upstream_gene_variant,,ENST00000527848,;RN7SL56P,downstream_gene_variant,,ENST00000470034,;WEE1,missense_variant,p.Ile50Val,ENST00000530175,;WEE1,non_coding_transcript_exon_variant,,ENST00000532275,;WEE1,downstream_gene_variant,,ENST00000524549,;	1553	60	67	SUCCESS
CHD4	1108	.	GRCh37	12	6710863	6710863	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	99	0	ENST00000357008.2:c.508G>T	p.Glu170Ter	p.E170*	ENST00000357008	NM_001273.2	170	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8552.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCCTCTG	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,Pfam_domain:PF08073	.	.	ENSP00000349508	.	5/40	.	.	.	.	.	.	.	.	.	5/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,stop_gained,p.Glu163Ter,ENST00000544040,;CHD4,stop_gained,p.Glu167Ter,ENST00000544484,;CHD4,stop_gained,p.Glu170Ter,ENST00000309577,;CHD4,stop_gained,p.Glu170Ter,ENST00000357008,;CHD4,stop_gained,p.Glu170Ter,ENST00000545942,;CHD4,downstream_gene_variant,,ENST00000545584,;CHD4,upstream_gene_variant,,ENST00000536999,;CHD4,upstream_gene_variant,,ENST00000535810,;CHD4,downstream_gene_variant,,ENST00000430771,;	672	99	102	SUCCESS
PPFIA2	8499	.	GRCh37	12	81769684	81769684	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	49	0	ENST00000549396.1:c.1022C>A	p.Thr341Lys	p.T341K	ENST00000549396	NM_003625.3	341	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS55857.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTGTAATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,missense_variant,p.Thr323Lys,ENST00000333447,;PPFIA2,missense_variant,p.Thr267Lys,ENST00000407050,;PPFIA2,missense_variant,p.Thr242Lys,ENST00000443686,;PPFIA2,missense_variant,p.Thr188Lys,ENST00000550359,;PPFIA2,missense_variant,p.Thr341Lys,ENST00000549396,;PPFIA2,missense_variant,p.Thr323Lys,ENST00000549325,;PPFIA2,missense_variant,p.Thr341Lys,ENST00000548586,;PPFIA2,missense_variant,p.Thr341Lys,ENST00000550584,;PPFIA2,missense_variant,p.Thr341Lys,ENST00000552948,;PPFIA2,missense_variant,p.Thr159Lys,ENST00000548790,;RP11-315E17.1,upstream_gene_variant,,ENST00000546936,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000545296,;	1183	49	87	SUCCESS
IFT88	8100	.	GRCh37	13	21175975	21175975	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	394	16	294	0	ENST00000319980.6:c.971A>G	p.Tyr324Cys	p.Y324C	ENST00000319980	NM_175605.3	324	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31944.1	971	MUTECT|MUSE	.	CTGTTATTTTG	NONE	.	.	hmmpanther:PTHR23083:SF6,hmmpanther:PTHR23083,Gene3D:1.25.40.10	.	.	ENSP00000323580	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000319980	Transcript	.	.	ENSG00000032742	20606	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	tolerated(0.09)	.	IFT88_HUMAN	IFT88	HGNC	F6SRW8_HUMAN	.	UPI0000160108	SNV	IFT88,missense_variant,p.Tyr324Cys,ENST00000319980,;IFT88,missense_variant,p.Tyr315Cys,ENST00000351808,;IFT88,missense_variant,p.Tyr324Cys,ENST00000382778,;IFT88,missense_variant,p.Tyr296Cys,ENST00000537103,;IFT88,upstream_gene_variant,,ENST00000461115,;	1298	294	410	SUCCESS
RNF219	0	.	GRCh37	13	79190626	79190626	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	22	0	ENST00000282003.6:c.1270A>G	p.Arg424Gly	p.R424G	ENST00000282003	NM_024546.3	424	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS31997.1	1270	MUTECT|MUSE	.	TTTTCTGAGAT	NONE	.	.	hmmpanther:PTHR14609	.	.	ENSP00000282003	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000282003	Transcript	.	.	ENSG00000152193	20308	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RN219_HUMAN	RNF219	HGNC	.	.	UPI0000458868	SNV	RNF219,missense_variant,p.Arg424Gly,ENST00000282003,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000560584,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000606429,;RNF219-AS1,downstream_gene_variant,,ENST00000560209,;	1329	22	56	SUCCESS
RAD51B	5890	.	GRCh37	14	68331792	68331802	+	frameshift_variant	Frame_Shift_Del	DEL	AACATGGGAGG	AACATGGGAGG	-	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	AACATGGGAGG	AACATGGGAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	69	0	ENST00000487270.1:c.389_399del	p.Asn130IlefsTer9	p.N130Ifs*9	ENST00000487270	NM_133509.3	130	AACATGGGAGGa/a	0	.	.	.	.	.	-	NMGG/X	protein_coding	YES	CCDS9789.1	388-398	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCACCAACATGGGAGGATTAG	NONE	.	.	PROSITE_profiles:PS50162,hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF15,Gene3D:3.40.50.300,Pfam_domain:PF08423,PIRSF_domain:PIRSF005856,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000419471	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000487270	Transcript	.	.	ENSG00000182185	9822	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RA51B_HUMAN	RAD51B	HGNC	G3V4W9_HUMAN,C9J5S9_HUMAN	.	UPI0000073AB0	deletion	RAD51B,frameshift_variant,p.Asn130IlefsTer9,ENST00000471583,;RAD51B,frameshift_variant,p.Asn130_Gly133del,ENST00000485181,;RAD51B,frameshift_variant,p.Asn130IlefsTer9,ENST00000488612,;RAD51B,frameshift_variant,p.Asn130IlefsTer9,ENST00000390683,;RAD51B,frameshift_variant,p.Asn130IlefsTer9,ENST00000487861,;RAD51B,frameshift_variant,p.Asn130IlefsTer9,ENST00000487270,;RAD51B,non_coding_transcript_exon_variant,,ENST00000553734,;RAD51B,non_coding_transcript_exon_variant,,ENST00000553595,;RAD51B,non_coding_transcript_exon_variant,,ENST00000555907,;RAD51B,3_prime_UTR_variant,,ENST00000479335,;	436-446	69	63	SUCCESS
SNRPN	6638	.	GRCh37	15	25219596	25219596	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	42	140	0	ENST00000346403.6:c.-5C>T		p.*2*	ENST00000346403				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10017.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCAATCA	NONE	.	.	.	.	.	ENSP00000382972	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000400100	Transcript	1	.	ENSG00000128739	11164	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSMN_HUMAN	SNRPN	HGNC	Q9UKR4_HUMAN,Q6LBS1_HUMAN,J3QLE5_HUMAN,J3KRY3_HUMAN	.	UPI000002948A	SNV	SNRPN,5_prime_UTR_variant,,ENST00000400100,;SNRPN,5_prime_UTR_variant,,ENST00000400098,;SNRPN,5_prime_UTR_variant,,ENST00000584968,;SNURF,3_prime_UTR_variant,,ENST00000338094,;SNRPN,5_prime_UTR_variant,,ENST00000400097,;SNRPN,5_prime_UTR_variant,,ENST00000554227,;SNRPN,5_prime_UTR_variant,,ENST00000390687,;SNRPN,5_prime_UTR_variant,,ENST00000579070,;SNRPN,5_prime_UTR_variant,,ENST00000444203,;SNRPN,5_prime_UTR_variant,,ENST00000577565,;SNRPN,5_prime_UTR_variant,,ENST00000346403,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,intron_variant,,ENST00000551312,;SNURF,intron_variant,,ENST00000580062,;SNURF,intron_variant,,ENST00000557230,;SNHG14,upstream_gene_variant,,ENST00000557108,;	886	140	168	SUCCESS
TRPM7	54822	.	GRCh37	15	50903454	50903454	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	27	76	0	ENST00000313478.7:c.2116A>G	p.Met706Val	p.M706V	ENST00000313478	NM_017672.4	706	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS42035.1	2116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATAGCCA	NONE	.	.	hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,missense_variant,p.Met706Val,ENST00000560955,;TRPM7,missense_variant,p.Met243Val,ENST00000560638,;TRPM7,missense_variant,p.Met706Val,ENST00000313478,;	2398	76	102	SUCCESS
LMF1	64788	.	GRCh37	16	1020930	1020930	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	125	0	ENST00000262301.11:c.51G>A	p.Arg17=	p.R17=	ENST00000262301	NM_022773.2	17	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS45373.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGCCTCCT	NONE	.	.	hmmpanther:PTHR14463	.	.	ENSP00000262301	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000262301	Transcript	.	.	ENSG00000103227	14154	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMF1_HUMAN	LMF1	HGNC	H3BVI4_HUMAN,H3BN37_HUMAN,B3KS80_HUMAN	.	UPI000006E366	SNV	LMF1,synonymous_variant,p.%3D,ENST00000399843,;LMF1,synonymous_variant,p.%3D,ENST00000539379,;LMF1,synonymous_variant,p.%3D,ENST00000262301,;LMF1,5_prime_UTR_variant,,ENST00000543238,;LMF1,intron_variant,,ENST00000570014,;LMF1,upstream_gene_variant,,ENST00000568897,;RP11-161M6.2,downstream_gene_variant,,ENST00000562570,;RP11-161M6.2,downstream_gene_variant,,ENST00000565139,;RP11-161M6.2,downstream_gene_variant,,ENST00000567961,;RP11-161M6.2,downstream_gene_variant,,ENST00000565467,;RP11-161M6.2,downstream_gene_variant,,ENST00000563863,;RP11-161M6.2,downstream_gene_variant,,ENST00000568394,;LMF1,non_coding_transcript_exon_variant,,ENST00000566609,;LMF1,synonymous_variant,p.%3D,ENST00000562226,;LMF1,synonymous_variant,p.%3D,ENST00000568964,;LMF1,intron_variant,,ENST00000545827,;LMF1,upstream_gene_variant,,ENST00000567595,;	70	125	113	SUCCESS
NPRL3	8131	.	GRCh37	16	150499	150499	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776199294	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	66	0	ENST00000399953.3:c.638C>G	p.Thr213Arg	p.T213R	ENST00000399953	NM_001243247.1	213	aCg/aGg	0	.	.	.	.	.	C	T/R	protein_coding	YES	.	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGTGCAC	NONE	byFrequency	.	hmmpanther:PTHR13153,Pfam_domain:PF03666	.	.	ENSP00000382834	.	7/14	.	.	.	.	.	.	.	.	rs776199294	7/14	PASS	ENST00000399953	Transcript	.	.	ENSG00000103148	14124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0)	.	NPRL3_HUMAN	NPRL3	HGNC	.	.	UPI00004568D2	SNV	NPRL3,missense_variant,p.Thr213Arg,ENST00000399953,;NPRL3,missense_variant,p.Thr34Arg,ENST00000399951,;NPRL3,non_coding_transcript_exon_variant,,ENST00000405960,;NPRL3,non_coding_transcript_exon_variant,,ENST00000468260,;NPRL3,non_coding_transcript_exon_variant,,ENST00000428323,;NPRL3,non_coding_transcript_exon_variant,,ENST00000473674,;NPRL3,upstream_gene_variant,,ENST00000464069,;NPRL3,missense_variant,p.Arg67Gly,ENST00000422814,;NPRL3,3_prime_UTR_variant,,ENST00000399957,;NPRL3,3_prime_UTR_variant,,ENST00000457916,;NPRL3,3_prime_UTR_variant,,ENST00000445810,;NPRL3,3_prime_UTR_variant,,ENST00000483663,;	1041	66	51	SUCCESS
MAPK8IP3	23162	.	GRCh37	16	1808157	1808157	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	83	0	ENST00000250894.4:c.1222T>C	p.Ser408Pro	p.S408P	ENST00000250894	NM_015133.3	408	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS10442.2	1222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTCAGGT	NONE	.	.	hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3	.	.	ENSP00000250894	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000250894	Transcript	.	.	ENSG00000138834	6884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	deleterious(0.01)	.	JIP3_HUMAN	MAPK8IP3	HGNC	.	.	UPI000034ECA7	SNV	MAPK8IP3,missense_variant,p.Ser408Pro,ENST00000250894,;MAPK8IP3,missense_variant,p.Ser408Pro,ENST00000356010,;MAPK8IP3,3_prime_UTR_variant,,ENST00000567849,;MAPK8IP3,upstream_gene_variant,,ENST00000570131,;MAPK8IP3,upstream_gene_variant,,ENST00000566589,;	1379	83	60	SUCCESS
CAMKK1	84254	.	GRCh37	17	3788636	3788636	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	7	62	0	ENST00000348335.2:c.346A>G	p.Ile116Val	p.I116V	ENST00000348335	NM_032294.2	116	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS11039.1	346	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGATGGCCA	NONE	.	.	hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF141,Superfamily_domains:SSF56112	.	.	ENSP00000158166	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000158166	Transcript	.	.	ENSG00000004660	1469	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	tolerated(0.09)	.	KKCC1_HUMAN	CAMKK1	HGNC	.	.	UPI0000141119	SNV	CAMKK1,missense_variant,p.Ile143Val,ENST00000381769,;CAMKK1,missense_variant,p.Ile116Val,ENST00000381771,;CAMKK1,missense_variant,p.Ile116Val,ENST00000158166,;CAMKK1,missense_variant,p.Ile116Val,ENST00000348335,;CAMKK1,non_coding_transcript_exon_variant,,ENST00000573483,;	495	62	68	SUCCESS
CACNA1G	8913	.	GRCh37	17	48684344	48684344	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	71	0	ENST00000359106.5:c.4506C>T	p.Asp1502=	p.D1502=	ENST00000359106	NM_018896.4	1502	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS45730.1	4506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGACCAGCA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000506520,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000514181,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CACNA1G,downstream_gene_variant,,ENST00000416767,;CACNA1G,synonymous_variant,p.%3D,ENST00000504076,;CACNA1G,synonymous_variant,p.%3D,ENST00000511765,;CACNA1G,synonymous_variant,p.%3D,ENST00000511768,;CACNA1G,synonymous_variant,p.%3D,ENST00000503436,;CACNA1G,synonymous_variant,p.%3D,ENST00000503607,;CACNA1G,synonymous_variant,p.%3D,ENST00000506406,;	4506	71	59	SUCCESS
USP6	9098	.	GRCh37	17	5041019	5041019	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	31	0	ENST00000250066.6:c.899C>T	p.Thr300Ile	p.T300I	ENST00000250066	NM_004505.2	300	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS11069.2	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAACCAGCA	NONE	.	.	hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000460380	.	20/38	.	.	.	.	.	.	.	.	.	20/38	PASS	ENST00000574788	Transcript	.	.	ENSG00000129204	12629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious_low_confidence(0)	.	UBP6_HUMAN	USP6	HGNC	Q6U210_HUMAN	.	UPI000006226F	SNV	USP6,missense_variant,p.Thr300Ile,ENST00000250066,;USP6,missense_variant,p.Thr300Ile,ENST00000574788,;USP6,missense_variant,p.Thr300Ile,ENST00000332776,;USP6,5_prime_UTR_variant,,ENST00000304328,;USP6,downstream_gene_variant,,ENST00000572429,;USP6,missense_variant,p.Thr300Ile,ENST00000572949,;USP6,missense_variant,p.Thr300Ile,ENST00000575709,;USP6,downstream_gene_variant,,ENST00000357482,;	3129	31	36	SUCCESS
CACNG4	27092	.	GRCh37	17	65026622	65026622	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	13	206	0	ENST00000262138.3:c.486C>T	p.Ser162=	p.S162=	ENST00000262138	NM_014405.3	162	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11667.1	486	MUTECT|MUSE|VARSCANS	.	TCCAGCAACAC	NONE	.	.	hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7,Pfam_domain:PF00822,Prints_domain:PR01792	.	.	ENSP00000262138	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262138	Transcript	.	.	ENSG00000075461	1408	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCG4_HUMAN	CACNG4	HGNC	.	.	UPI0000001649	SNV	CACNG4,synonymous_variant,p.%3D,ENST00000262138,;AC005544.1,upstream_gene_variant,,ENST00000375684,;RP11-74H8.1,downstream_gene_variant,,ENST00000579138,;	488	206	166	SUCCESS
BPTF	2186	.	GRCh37	17	65920661	65920661	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	75	181	0	ENST00000321892.4:c.6087-2A>G		p.X2029_splice	ENST00000321892		2029		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11673.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGAGTG	NONE	.	.	.	.	.	ENSP00000307208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	HIGH	14/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,splice_acceptor_variant,,ENST00000306378,;BPTF,splice_acceptor_variant,,ENST00000321892,;BPTF,splice_acceptor_variant,,ENST00000544778,;BPTF,splice_acceptor_variant,,ENST00000335221,;BPTF,splice_acceptor_variant,,ENST00000582467,;BPTF,splice_acceptor_variant,,ENST00000424123,;	.	181	252	SUCCESS
ACAP1	9744	.	GRCh37	17	7247901	7247901	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1181880490	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	65	0	ENST00000158762.3:c.788C>A	p.Pro263His	p.P263H	ENST00000158762	NM_014716.3	263	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS11101.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCTGGTG	NONE	.	.	hmmpanther:PTHR23180:SF197,hmmpanther:PTHR23180,Superfamily_domains:SSF103657,Superfamily_domains:SSF50729	.	.	ENSP00000158762	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000158762	Transcript	.	.	ENSG00000072818	16467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.376)	.	deleterious(0)	.	ACAP1_HUMAN	ACAP1	HGNC	I3L2Z4_HUMAN,I3L268_HUMAN,I3L0K9_HUMAN	.	UPI000012749A	SNV	ACAP1,missense_variant,p.Pro263His,ENST00000158762,;ACAP1,downstream_gene_variant,,ENST00000575425,;ACAP1,downstream_gene_variant,,ENST00000570457,;ACAP1,downstream_gene_variant,,ENST00000573893,;ACAP1,non_coding_transcript_exon_variant,,ENST00000571220,;ACAP1,upstream_gene_variant,,ENST00000576594,;ACAP1,upstream_gene_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000576628,;	994	65	79	SUCCESS
FXR2	9513	.	GRCh37	17	7504837	7504837	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	97	0	ENST00000250113.7:c.550A>G	p.Thr184Ala	p.T184A	ENST00000250113	NM_004860.3	184	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS45604.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTGGTTG	NONE	.	.	hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF3	.	.	ENSP00000250113	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000250113	Transcript	.	.	ENSG00000129245	4024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.13)	.	FXR2_HUMAN	FXR2	HGNC	.	.	UPI0000072727	SNV	FXR2,missense_variant,p.Thr184Ala,ENST00000250113,;FXR2,downstream_gene_variant,,ENST00000571597,;FXR2,downstream_gene_variant,,ENST00000576693,;FXR2,upstream_gene_variant,,ENST00000573957,;	885	97	81	SUCCESS
FASN	2194	.	GRCh37	17	80045255	80045255	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs141517558	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	55	0	ENST00000306749.2:c.3169A>G	p.Ile1057Val	p.I1057V	ENST00000306749	NM_004104.4	1057	Atc/Gtc	0	C:0	.	.	.	.	C	I/V	protein_coding	YES	CCDS11801.1	3169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGATGTGGA	NONE	byCluster	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF14765	.	C:0.0001	ENSP00000304592	.	20/43	.	.	.	.	.	.	.	.	rs141517558	20/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.21)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Ile1057Val,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000579410,;	3388	55	57	SUCCESS
DLGAP1	9229	.	GRCh37	18	3729263	3729263	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	44	145	0	ENST00000315677.3:c.1463G>A	p.Arg488His	p.R488H	ENST00000315677	NM_004746.3	488	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11836.1	1463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCGGAAG	NONE	.	.	hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353	.	.	ENSP00000316377	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000315677	Transcript	.	.	ENSG00000170579	2905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DLGP1_HUMAN	DLGAP1	HGNC	.	.	UPI0000129490	SNV	DLGAP1,missense_variant,p.Arg488His,ENST00000581527,;DLGAP1,missense_variant,p.Arg488His,ENST00000315677,;DLGAP1,missense_variant,p.Arg196His,ENST00000400149,;DLGAP1,missense_variant,p.Arg488His,ENST00000584874,;DLGAP1,missense_variant,p.Arg186His,ENST00000400145,;DLGAP1,missense_variant,p.Arg194His,ENST00000400150,;DLGAP1,missense_variant,p.Arg194His,ENST00000400155,;DLGAP1,missense_variant,p.Arg186His,ENST00000400147,;DLGAP1,missense_variant,p.Arg186His,ENST00000539435,;DLGAP1,missense_variant,p.Arg488His,ENST00000515196,;DLGAP1,missense_variant,p.Arg200His,ENST00000534970,;DLGAP1,missense_variant,p.Arg194His,ENST00000581699,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000485480,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000478161,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000486430,;	2059	145	163	SUCCESS
MBD1	4152	.	GRCh37	18	47800628	47800639	+	inframe_deletion	In_Frame_Del	DEL	GTCGCAGCAGAA	GTCGCAGCAGAA	-	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	GTCGCAGCAGAA	GTCGCAGCAGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	151	0	ENST00000269468.5:c.1063_1074del	p.Phe355_Asp358del	p.F355_D358del	ENST00000269468	NM_015846.3	355	TTCTGCTGCGAC/-	0	.	.	.	.	.	-	FCCD/-	protein_coding	YES	CCDS59320.1	1063-1074	INDELOCATOR|VARSCANI	.	GGGCTTGTCGCAGCAGAAGTCGC	NONE	.	.	PROSITE_profiles:PS51058,hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF4,Pfam_domain:PF02008	.	.	ENSP00000468785	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000590208	Transcript	.	.	ENSG00000141644	6916	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MBD1	HGNC	K7ESN0_HUMAN	.	UPI0001F995B6	deletion	MBD1,inframe_deletion,p.Phe332_Asp335del,ENST00000588937,;MBD1,inframe_deletion,p.Phe332_Asp335del,ENST00000269471,;MBD1,inframe_deletion,p.Phe380_Asp383del,ENST00000585595,;MBD1,inframe_deletion,p.Phe355_Asp358del,ENST00000269468,;MBD1,inframe_deletion,p.Phe332_Asp335del,ENST00000591535,;MBD1,inframe_deletion,p.Phe355_Asp358del,ENST00000590208,;MBD1,inframe_deletion,p.Phe355_Asp358del,ENST00000339998,;MBD1,inframe_deletion,p.Phe305_Asp308del,ENST00000585672,;MBD1,inframe_deletion,p.Phe380_Asp383del,ENST00000457839,;MBD1,inframe_deletion,p.Phe332_Asp335del,ENST00000436910,;MBD1,inframe_deletion,p.Phe306_Asp309del,ENST00000353909,;MBD1,inframe_deletion,p.Phe355_Asp358del,ENST00000382948,;MBD1,inframe_deletion,p.Phe355_Asp358del,ENST00000591416,;MBD1,inframe_deletion,p.Phe406_Asp409del,ENST00000424334,;MBD1,intron_variant,,ENST00000587605,;MBD1,intron_variant,,ENST00000589733,;MBD1,intron_variant,,ENST00000589541,;MBD1,intron_variant,,ENST00000347968,;MBD1,intron_variant,,ENST00000398495,;MBD1,intron_variant,,ENST00000592060,;MBD1,intron_variant,,ENST00000398493,;MBD1,intron_variant,,ENST00000349085,;MBD1,intron_variant,,ENST00000398488,;MBD1,downstream_gene_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,downstream_gene_variant,,ENST00000586679,;MBD1,downstream_gene_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000590215,;MBD1,downstream_gene_variant,,ENST00000586118,;	1410-1421	151	103	SUCCESS
DSEL	92126	.	GRCh37	18	65181841	65181841	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749140708	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	8	157	0	ENST00000310045.7:c.35C>T	p.Ala12Val	p.A12V	ENST00000310045	NM_032160.2	12	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11995.1	35	MUTECT|MUSE	.	TTAACGCCATG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	rs749140708	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.873)	.	deleterious_low_confidence(0.03)	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Ala12Val,ENST00000310045,;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,downstream_gene_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	1509	157	152	SUCCESS
TMEM259	91304	.	GRCh37	19	1011186	1011186	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs369432576	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	92	0	ENST00000356663.3:c.1226A>G	p.Tyr409Cys	p.Y409C	ENST00000356663	NM_001033026.1	409	tAt/tGt	0	C:0.0005	.	.	.	.	C	Y/C	protein_coding	YES	CCDS32862.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATAGAAG	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF4	.	C:0	ENSP00000349087	.	10/11	.	.	.	.	.	.	.	.	rs369432576	10/11	PASS	ENST00000356663	Transcript	.	.	ENSG00000182087	17039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MBRL_HUMAN	TMEM259	HGNC	.	.	UPI0000202E8E	SNV	TMEM259,missense_variant,p.Tyr146Cys,ENST00000593068,;TMEM259,missense_variant,p.Tyr112Cys,ENST00000586285,;TMEM259,missense_variant,p.Tyr409Cys,ENST00000356663,;TMEM259,intron_variant,,ENST00000333175,;TMEM259,downstream_gene_variant,,ENST00000592590,;TMEM259,downstream_gene_variant,,ENST00000589055,;TMEM259,downstream_gene_variant,,ENST00000607316,;TMEM259,downstream_gene_variant,,ENST00000586250,;GRIN3B,downstream_gene_variant,,ENST00000234389,;TMEM259,non_coding_transcript_exon_variant,,ENST00000592052,;TMEM259,non_coding_transcript_exon_variant,,ENST00000586704,;TMEM259,non_coding_transcript_exon_variant,,ENST00000587266,;TMEM259,non_coding_transcript_exon_variant,,ENST00000592618,;TMEM259,intron_variant,,ENST00000591128,;TMEM259,downstream_gene_variant,,ENST00000589831,;TMEM259,downstream_gene_variant,,ENST00000587644,;	1348	92	54	SUCCESS
ZNF700	90592	.	GRCh37	19	12059298	12059298	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	63	116	0	ENST00000254321.5:c.459A>T	p.Ala153=	p.A153=	ENST00000254321	NM_144566.2	153	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32915.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCATATGA	NONE	.	.	hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379	.	.	ENSP00000254321	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254321	Transcript	.	.	ENSG00000196757	25292	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN700_HUMAN	ZNF700	HGNC	.	.	UPI00000713C0	SNV	ZNF700,synonymous_variant,p.%3D,ENST00000254321,;ZNF700,synonymous_variant,p.%3D,ENST00000482090,;ZNF763,intron_variant,,ENST00000538752,;ZNF763,intron_variant,,ENST00000590798,;ZNF763,intron_variant,,ENST00000591944,;CTD-2006C1.12,intron_variant,,ENST00000586394,;ZNF763,intron_variant,,ENST00000591441,;ZNF763,upstream_gene_variant,,ENST00000586354,;	602	117	224	SUCCESS
ZNF57	126295	.	GRCh37	19	2900991	2900991	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	45	200	0	ENST00000306908.5:c.-53C>T		p.*18*	ENST00000306908	NM_173480.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12098.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCCGGCCG	NONE	.	.	.	.	.	ENSP00000303696	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000306908	Transcript	.	.	ENSG00000171970	13125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF57_HUMAN	ZNF57	HGNC	K7ERB8_HUMAN,G3V131_HUMAN,E5RHE3_HUMAN,A5HJR3_HUMAN	.	UPI000006FE5C	SNV	ZNF57,5_prime_UTR_variant,,ENST00000306908,;AC119403.1,upstream_gene_variant,,ENST00000590960,;	96	200	179	SUCCESS
PRR19	284338	.	GRCh37	19	42814219	42814219	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	61	0	ENST00000341747.3:c.483C>G	p.Phe161Leu	p.F161L	ENST00000341747	NM_199285.2	161	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS33036.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCCCCCG	NONE	.	.	Pfam_domain:PF15455	.	.	ENSP00000445247	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000499536	Transcript	.	.	ENSG00000188368	33728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	PRR19_HUMAN	PRR19	HGNC	M0QXP7_HUMAN	.	UPI000016101F	SNV	PRR19,missense_variant,p.Phe161Leu,ENST00000341747,;PRR19,missense_variant,p.Phe161Leu,ENST00000595750,;PRR19,missense_variant,p.Phe161Leu,ENST00000499536,;PRR19,missense_variant,p.Phe161Leu,ENST00000598490,;TMEM145,upstream_gene_variant,,ENST00000598766,;TMEM145,upstream_gene_variant,,ENST00000301204,;TMEM145,upstream_gene_variant,,ENST00000601020,;TMEM145,upstream_gene_variant,,ENST00000595775,;	1294	61	55	SUCCESS
PPFIA3	8541	.	GRCh37	19	49651354	49651354	+	synonymous_variant	Silent	SNP	C	C	T	rs765574283	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	39	139	0	ENST00000334186.4:c.2850C>T	p.Gly950=	p.G950=	ENST00000334186	NM_003660.3	950	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12758.1	2850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCGACAT	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4,SMART_domains:SM00454	.	.	ENSP00000335614	.	24/30	.	.	.	.	.	.	.	.	rs765574283,COSM3404444	24/30	PASS	ENST00000334186	Transcript	.	.	ENSG00000177380	9247	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LIPA3_HUMAN	PPFIA3	HGNC	R4GNF1_HUMAN	.	UPI00001AE464	SNV	PPFIA3,synonymous_variant,p.%3D,ENST00000334186,;PPFIA3,synonymous_variant,p.%3D,ENST00000602351,;PPFIA3,synonymous_variant,p.%3D,ENST00000602848,;HRC,downstream_gene_variant,,ENST00000598858,;HRC,downstream_gene_variant,,ENST00000595625,;PPFIA3,upstream_gene_variant,,ENST00000602897,;HRC,downstream_gene_variant,,ENST00000252825,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,upstream_gene_variant,,ENST00000602783,;PPFIA3,upstream_gene_variant,,ENST00000602905,;HRC,downstream_gene_variant,,ENST00000595167,;PPFIA3,downstream_gene_variant,,ENST00000602800,;	3199	139	151	SUCCESS
NLRP12	91662	.	GRCh37	19	54313990	54313990	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	90	0	ENST00000324134.6:c.923G>A	p.Gly308Glu	p.G308E	ENST00000324134	NM_144687.3	308	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS12864.1	923	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCCCTGA	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	COSM567543,COSM1649502	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.926)	.	tolerated(0.31)	1,1	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Gly308Glu,ENST00000535162,;NLRP12,missense_variant,p.Gly308Glu,ENST00000391775,;NLRP12,missense_variant,p.Gly308Glu,ENST00000354278,;NLRP12,missense_variant,p.Gly308Glu,ENST00000391773,;NLRP12,missense_variant,p.Gly308Glu,ENST00000324134,;NLRP12,missense_variant,p.Gly308Glu,ENST00000391772,;NLRP12,missense_variant,p.Gly308Glu,ENST00000345770,;NLRP12,missense_variant,p.Gly308Glu,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	1092	90	92	SUCCESS
NAT14	57106	.	GRCh37	19	55997831	55997831	+	synonymous_variant	Silent	SNP	G	G	A	rs770556005	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	120	1	ENST00000205194.4:c.129G>A	p.Pro43=	p.P43=	ENST00000205194	NM_020378.3	43	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12926.1	129	MUTECT|MUSE	.	CCGCCGGCCCT	NONE	.	.	hmmpanther:PTHR13947:SF8,hmmpanther:PTHR13947,PROSITE_profiles:PS51186,Low_complexity_(Seg):seg	.	.	ENSP00000205194	.	3/3	.	.	.	.	.	.	.	.	rs770556005	3/3	PASS	ENST00000205194	Transcript	.	.	ENSG00000090971	28918	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAT14_HUMAN	NAT14	HGNC	.	.	UPI000006EC7E	SNV	NAT14,synonymous_variant,p.%3D,ENST00000588985,;NAT14,synonymous_variant,p.%3D,ENST00000205194,;NAT14,3_prime_UTR_variant,,ENST00000591590,;NAT14,intron_variant,,ENST00000587400,;SSC5D,upstream_gene_variant,,ENST00000594321,;SSC5D,upstream_gene_variant,,ENST00000389623,;SSC5D,upstream_gene_variant,,ENST00000587166,;ZNF628,downstream_gene_variant,,ENST00000391718,;ZNF628,downstream_gene_variant,,ENST00000591164,;ZNF628,downstream_gene_variant,,ENST00000598519,;NAT14,intron_variant,,ENST00000592719,;SSC5D,upstream_gene_variant,,ENST00000588254,;	432	121	87	SUCCESS
IVL	3713	.	GRCh37	1	152883099	152883099	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs541702541	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	57	167	0	ENST00000368764.3:c.826C>T	p.Pro276Ser	p.P276S	ENST00000368764		276	Cca/Tca	0	.	T:0	.	T:0.0029	.	T	P/S	protein_coding	YES	CCDS1030.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCCAGAG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13905,Pfam_domain:PF00904	T:0	.	ENSP00000357753	T:0	2/2	.	.	.	.	.	.	.	.	rs541702541	2/2	PASS	ENST00000368764	Transcript	.	T:0.0004	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	T:0	tolerated_low_confidence(0.14)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.Pro276Ser,ENST00000368764,;IVL,missense_variant,p.Pro130Ser,ENST00000392667,;	890	167	262	SUCCESS
BRINP3	339479	.	GRCh37	1	190067855	190067855	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	33	78	0	ENST00000367462.3:c.1594C>A	p.Arg532=	p.R532=	ENST00000367462	NM_199051.1	532	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1373.1	1594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCGCTTAC	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,synonymous_variant,p.%3D,ENST00000534846,;BRINP3,synonymous_variant,p.%3D,ENST00000367462,;	1826	78	141	SUCCESS
CR2	1380	.	GRCh37	1	207649630	207649630	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	44	44	0	ENST00000367058.3:c.2591G>A	p.Gly864Asp	p.G864D	ENST00000367058	NM_001877.4	864	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31007.1	2768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGTGGAA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Gly837Asp,ENST00000458541,;CR2,missense_variant,p.Gly923Asp,ENST00000367057,;CR2,missense_variant,p.Gly864Asp,ENST00000367058,;CR2,intron_variant,,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000475194,;	2957	44	183	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227223280	227223280	+	synonymous_variant	Silent	SNP	A	A	G	rs371390192	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	29	63	0	ENST00000334218.5:c.3123T>C	p.Cys1041=	p.C1041=	ENST00000334218		1041	tgT/tgC	0	G:0	.	.	.	.	G	C	protein_coding	YES	CCDS1558.1	3123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACACAAGT	NONE	byCluster	.	PROSITE_profiles:PS50081,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	G:0.0001	ENSP00000355731	.	24/36	.	.	.	.	.	.	.	.	rs371390192	24/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,synonymous_variant,p.%3D,ENST00000441725,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366767,;CDC42BPA,synonymous_variant,p.%3D,ENST00000442054,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366769,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366765,;CDC42BPA,synonymous_variant,p.%3D,ENST00000448940,;CDC42BPA,synonymous_variant,p.%3D,ENST00000334218,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366764,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366766,;CDC42BPA,synonymous_variant,p.%3D,ENST00000535525,;CDC42BPA,upstream_gene_variant,,ENST00000429440,;	4415	63	125	SUCCESS
KIF26B	55083	.	GRCh37	1	245809435	245809435	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757742040	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	29	0	ENST00000407071.2:c.2111G>A	p.Arg704His	p.R704H	ENST00000407071	NM_018012.3	704	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS44342.1	2111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGCAGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000385545	.	10/15	.	.	.	.	.	.	.	.	rs757742040,COSM1340850,COSM1340849	10/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	unknown(0)	.	deleterious(0.01)	0,1,1	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Arg704His,ENST00000407071,;KIF26B,missense_variant,p.Arg323His,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	2551	29	93	SUCCESS
NLRP3	114548	.	GRCh37	1	247588425	247588425	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	7	91	0	ENST00000336119.3:c.1680C>T	p.Val560=	p.V560=	ENST00000336119	NM_001127462.2	560	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1632.1	1680	MUTECT|MUSE	.	ACAGTCCTTCT	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,synonymous_variant,p.%3D,ENST00000366496,;NLRP3,synonymous_variant,p.%3D,ENST00000336119,;NLRP3,synonymous_variant,p.%3D,ENST00000391827,;NLRP3,synonymous_variant,p.%3D,ENST00000366497,;NLRP3,synonymous_variant,p.%3D,ENST00000391828,;NLRP3,synonymous_variant,p.%3D,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	2426	91	225	SUCCESS
TNNI3K	51086	.	GRCh37	1	74819702	74819702	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	72	0	ENST00000326637.3:c.1066G>A	p.Val356Ile	p.V356I	ENST00000326637	NM_015978.2	356	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS44161.2	1408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGTTCAG	BUFFER|p.R354C|c.1060C>T|3	.	.	Prints_domain:PR01415,Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000450895	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000557284	Transcript	.	.	ENSG00000259030	42952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	deleterious(0.04)	.	.	FPGT-TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI0001EECC26	SNV	FPGT-TNNI3K,missense_variant,p.Val457Ile,ENST00000370895,;TNNI3K,missense_variant,p.Val457Ile,ENST00000370891,;FPGT-TNNI3K,missense_variant,p.Val470Ile,ENST00000557284,;TNNI3K,missense_variant,p.Val356Ile,ENST00000326637,;FPGT-TNNI3K,missense_variant,p.Val457Ile,ENST00000370899,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;RP11-439H8.4,intron_variant,,ENST00000415549,;	1413	72	63	SUCCESS
RPN2	6185	.	GRCh37	20	35866808	35866808	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	70	0	ENST00000237530.6:c.1883+1696C>A		p.*628*	ENST00000237530	NM_002951.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13291.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCGCTGC	NONE	.	.	.	.	.	ENSP00000237530	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000237530	Transcript	.	.	ENSG00000118705	10382	.	.	MODIFIER	16/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPN2_HUMAN	RPN2	HGNC	.	.	UPI0000000C52	SNV	RPN2,synonymous_variant,p.%3D,ENST00000373622,;RPN2,intron_variant,,ENST00000237530,;RPN2,intron_variant,,ENST00000437329,;RPN2,intron_variant,,ENST00000456400,;RPN2,intron_variant,,ENST00000470352,;	.	70	119	SUCCESS
RIMBP3	85376	.	GRCh37	22	20457142	20457142	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752883313,rs778723971	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	518	76	639	2	ENST00000426804.1:c.4160G>T	p.Cys1387Phe	p.C1387F	ENST00000426804	NM_015672.1	1387	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS46665.1	4160	RADIA|VARSCANS	.	CCAAGCACAGT	NONE	byFrequency	.	hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	rs752883313,rs778723971	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.546)	.	tolerated(0.2)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Cys1387Phe,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	4645	641	595	SUCCESS
ARFGAP3	26286	.	GRCh37	22	43253334	43253334	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	37	0	ENST00000263245.5:c.-146C>T		p.*49*	ENST00000263245	NM_014570.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14042.1	.	MUTECT|MUSE	.	CGACCGGGCCC	NONE	.	.	.	.	.	ENSP00000263245	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000263245	Transcript	.	.	ENSG00000242247	661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARFG3_HUMAN	ARFGAP3	HGNC	.	.	UPI0000125DF8	SNV	ARFGAP3,5_prime_UTR_variant,,ENST00000263245,;ARFGAP3,intron_variant,,ENST00000435208,;ARFGAP3,upstream_gene_variant,,ENST00000454099,;ARFGAP3,upstream_gene_variant,,ENST00000437119,;ARFGAP3,upstream_gene_variant,,ENST00000429508,;PACSIN2,intron_variant,,ENST00000507586,;ARFGAP3,upstream_gene_variant,,ENST00000493606,;AL049758.2,upstream_gene_variant,,ENST00000423154,;	75	37	34	SUCCESS
FAM19A5	0	.	GRCh37	22	48942553	48942553	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	24	0	ENST00000402357.1:c.112+57037C>G		p.*38*	ENST00000402357	NM_001082967.1			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCTCTGC	NONE	.	.	.	.	.	ENSP00000384340	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000407505	Transcript	.	.	ENSG00000219016	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTA-299D3.8	Clone_based_vega_gene	A6ZJ83_HUMAN	.	UPI0000161175	SNV	CTA-299D3.8,5_prime_UTR_variant,,ENST00000407505,;FAM19A5,intron_variant,,ENST00000402357,;FAM19A5,intron_variant,,ENST00000336769,;CTA-299D3.8,intron_variant,,ENST00000467207,;CTA-299D3.8,non_coding_transcript_exon_variant,,ENST00000463107,;	466	24	25	SUCCESS
AAMP	14	.	GRCh37	2	219134849	219134849	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	128	1	ENST00000248450.4:c.-40G>T		p.*14*	ENST00000248450				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33378.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACGCCTCCC	NONE	.	.	.	.	.	ENSP00000248450	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000248450	Transcript	.	.	ENSG00000127837	18	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AAMP_HUMAN	AAMP	HGNC	C9JTS3_HUMAN	.	UPI0000209584	SNV	AAMP,5_prime_UTR_variant,,ENST00000444053,;AAMP,5_prime_UTR_variant,,ENST00000248450,;AAMP,upstream_gene_variant,,ENST00000422731,;TMBIM1,downstream_gene_variant,,ENST00000444881,;TMBIM1,downstream_gene_variant,,ENST00000396809,;TMBIM1,downstream_gene_variant,,ENST00000258412,;AAMP,upstream_gene_variant,,ENST00000420660,;TMBIM1,downstream_gene_variant,,ENST00000445635,;PNKD,upstream_gene_variant,,ENST00000248451,;AAMP,upstream_gene_variant,,ENST00000447885,;PNKD,upstream_gene_variant,,ENST00000273077,;PNKD,upstream_gene_variant,,ENST00000472650,;AAMP,non_coding_transcript_exon_variant,,ENST00000461911,;AAMP,upstream_gene_variant,,ENST00000465442,;AAMP,upstream_gene_variant,,ENST00000475678,;AAMP,upstream_gene_variant,,ENST00000489767,;AAMP,upstream_gene_variant,,ENST00000494720,;PNKD,upstream_gene_variant,,ENST00000469689,;TMBIM1,downstream_gene_variant,,ENST00000465082,;	132	129	101	SUCCESS
SPHKAP	80309	.	GRCh37	2	228881378	228881378	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	72	0	ENST00000392056.3:c.4192C>A	p.Pro1398Thr	p.P1398T	ENST00000392056	NM_001142644.1	1398	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46537.1	4192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGGCTGT	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.65)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Pro1398Thr,ENST00000344657,;SPHKAP,missense_variant,p.Pro1398Thr,ENST00000392056,;	4239	72	95	SUCCESS
GPR75-ASB3	100302652	.	GRCh37	2	53977937	53977937	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs540542893	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	54	0	ENST00000263634.3:c.338C>T	p.Thr113Met	p.T113M	ENST00000263634	NM_016115.4	113	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	.	443	MUTECT|MUSE	.	GTGTCGTTTCT	NONE	byCluster	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24188:SF24,hmmpanther:PTHR24188,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000385085	.	3/10	.	.	.	.	.	.	.	.	rs540542893,COSM1408499	3/10	PASS	ENST00000406625	Transcript	.	.	ENSG00000270898	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.993)	.	deleterious(0.01)	0,1	ASB3_HUMAN	ASB3	Uniprot_gn	.	.	UPI000066218F	SNV	ASB3,missense_variant,p.Thr148Met,ENST00000406625,;GPR75-ASB3,missense_variant,p.Thr40Met,ENST00000394717,;GPR75-ASB3,missense_variant,p.Thr113Met,ENST00000263634,;GPR75-ASB3,missense_variant,p.Thr40Met,ENST00000406687,;GPR75-ASB3,missense_variant,p.Thr106Met,ENST00000406053,;GPR75-ASB3,missense_variant,p.Thr151Met,ENST00000352846,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000482829,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000482134,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000489508,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000480522,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000470916,;ASB3,intron_variant,,ENST00000498475,;ASB3,downstream_gene_variant,,ENST00000459916,;	684	54	78	SUCCESS
CMPK2	129607	.	GRCh37	2	6991720	6991720	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372816766	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	40	75	0	ENST00000256722.5:c.1087C>T	p.Pro363Ser	p.P363S	ENST00000256722	NM_207315.3	363	Cca/Tca	0	A:0	.	.	.	.	A	P/S	protein_coding	YES	CCDS42648.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGCCACT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10344,hmmpanther:PTHR10344:SF2,Pfam_domain:PF02223,Gene3D:3.40.50.300,PIRSF_domain:PIRSF019736,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000256722	.	4/5	.	.	.	.	.	.	.	.	rs372816766	4/5	PASS	ENST00000256722	Transcript	.	.	ENSG00000134326	27015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CMPK2_HUMAN	CMPK2	HGNC	I1Z9C7_HUMAN	.	UPI000016014D	SNV	CMPK2,missense_variant,p.Pro363Ser,ENST00000404168,;CMPK2,missense_variant,p.Pro363Ser,ENST00000256722,;CMPK2,intron_variant,,ENST00000458098,;CMPK2,non_coding_transcript_exon_variant,,ENST00000465619,;CMPK2,non_coding_transcript_exon_variant,,ENST00000491738,;CMPK2,non_coding_transcript_exon_variant,,ENST00000478738,;	1087	75	126	SUCCESS
ATOH8	84913	.	GRCh37	2	85981810	85981810	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	31	132	0	ENST00000306279.3:c.498A>G	p.Ser166=	p.S166=	ENST00000306279	NM_032827.6	166	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1985.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCAGCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF8	.	.	ENSP00000304676	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000306279	Transcript	.	.	ENSG00000168874	24126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATOH8_HUMAN	ATOH8	HGNC	.	.	UPI0000456DEB	SNV	ATOH8,synonymous_variant,p.%3D,ENST00000306279,;ATOH8,non_coding_transcript_exon_variant,,ENST00000463422,;ATOH8,intron_variant,,ENST00000469442,;	794	132	110	SUCCESS
KANSL3	55683	.	GRCh37	2	97274706	97274708	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs762893858	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	105	37	120	0	ENST00000431828.1:c.1477_1479del	p.Lys493del	p.K493del	ENST00000431828		493	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS46361.1	1477-1479	INDELOCATOR|VARSCANI	.	GCGGGGCTTCTTCT	NONE	byFrequency	.	hmmpanther:PTHR13136	.	.	ENSP00000396749	.	13/21	.	.	.	.	.	.	.	.	rs762893858,COSM1565923	13/21	PASS	ENST00000431828	Transcript	.	.	ENSG00000114982	25473	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	KANL3_HUMAN	KANSL3	HGNC	F8WEN2_HUMAN,B4E1W4_HUMAN	.	UPI0000207C82	deletion	KANSL3,inframe_deletion,p.Lys406del,ENST00000599854,;KANSL3,inframe_deletion,p.Lys493del,ENST00000431828,;KANSL3,inframe_deletion,p.Lys287del,ENST00000440133,;KANSL3,inframe_deletion,p.Lys406del,ENST00000441706,;KANSL3,downstream_gene_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,downstream_gene_variant,,ENST00000464738,;KANSL3,inframe_deletion,p.Lys493del,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,downstream_gene_variant,,ENST00000425656,;KANSL3,downstream_gene_variant,,ENST00000488907,;KANSL3,upstream_gene_variant,,ENST00000476534,;KANSL3,downstream_gene_variant,,ENST00000418735,;KANSL3,downstream_gene_variant,,ENST00000452268,;KANSL3,downstream_gene_variant,,ENST00000416138,;KANSL3,downstream_gene_variant,,ENST00000451819,;	1554-1556	120	142	SUCCESS
YEATS2	55689	.	GRCh37	3	183446490	183446490	+	synonymous_variant	Silent	SNP	G	G	A	rs754682316	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	34	86	0	ENST00000305135.5:c.663G>A	p.Pro221=	p.P221=	ENST00000305135	NM_018023.4	221	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43175.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGGATAA	NONE	byFrequency	.	PROSITE_profiles:PS51037,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7	.	.	ENSP00000306983	.	7/31	.	.	.	.	.	.	.	.	rs754682316	7/31	PASS	ENST00000305135	Transcript	.	.	ENSG00000163872	25489	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YETS2_HUMAN	YEATS2	HGNC	.	.	UPI00001BB2B9	SNV	YEATS2,synonymous_variant,p.%3D,ENST00000305135,;	858	86	109	SUCCESS
MASP1	5648	.	GRCh37	3	186980462	186980462	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751232856	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	266	19	123	0	ENST00000337774.5:c.284C>T	p.Thr95Ile	p.T95I	ENST00000337774	NM_001879.5	95	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS33908.1	284	MUTECT|MUSE	.	CTGTGGTCTCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,PIRSF_domain:PIRSF001155,Superfamily_domains:SSF49854	.	.	ENSP00000296280	.	3/11	.	.	.	.	.	.	.	.	rs751232856	3/11	PASS	ENST00000296280	Transcript	.	.	ENSG00000127241	6901	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	deleterious(0.01)	.	MASP1_HUMAN	MASP1	HGNC	Q9NSY8_HUMAN,C9JLU5_HUMAN	.	UPI000007256E	SNV	MASP1,missense_variant,p.Thr102Ile,ENST00000392475,;MASP1,missense_variant,p.Thr69Ile,ENST00000392470,;MASP1,missense_variant,p.Thr95Ile,ENST00000169293,;MASP1,missense_variant,p.Thr95Ile,ENST00000296280,;MASP1,missense_variant,p.Thr95Ile,ENST00000337774,;MASP1,5_prime_UTR_variant,,ENST00000392472,;MASP1,downstream_gene_variant,,ENST00000425937,;MASP1,downstream_gene_variant,,ENST00000439271,;MASP1,non_coding_transcript_exon_variant,,ENST00000490558,;MASP1,non_coding_transcript_exon_variant,,ENST00000465015,;MASP1,intron_variant,,ENST00000495249,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;	510	123	286	SUCCESS
CCR4	1233	.	GRCh37	3	32995552	32995552	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	95	110	0	ENST00000330953.5:c.638T>A	p.Ile213Asn	p.I213N	ENST00000330953	NM_005508.4	213	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS2656.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGATCCCCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF12,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000332659	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330953	Transcript	.	.	ENSG00000183813	1605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	CCR4_HUMAN	CCR4	HGNC	A0N0Q1_HUMAN	.	UPI000002DFE9	SNV	CCR4,missense_variant,p.Ile213Asn,ENST00000330953,;	806	110	174	SUCCESS
CELSR3	1951	.	GRCh37	3	48688438	48688438	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	166	0	ENST00000164024.4:c.6257C>G	p.Ser2086Trp	p.S2086W	ENST00000164024	NM_001407.2	2086	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS2775.1	6257	MUTECT|MUSE	.	AGCGCGAGGTG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Gene3D:2.10.25.10,Pfam_domain:PF00053,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50027	.	.	ENSP00000164024	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Ser2086Trp,ENST00000544264,;CELSR3,missense_variant,p.Ser2086Trp,ENST00000164024,;	6538	166	98	SUCCESS
BAP1	8314	.	GRCh37	3	52442001	52442005	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCA	CTTCA	-	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	CTTCA	CTTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	86	64	272	0	ENST00000460680.1:c.344_348del	p.Met115ArgfsTer9	p.M115Rfs*9	ENST00000460680	NM_004656.3	115	aTGAAG/a	0	.	.	.	.	.	-	MK/X	protein_coding	YES	CCDS2853.1	344-348	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGTCCTTCATGCGA	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,frameshift_variant,p.Met115ArgfsTer9,ENST00000296288,;BAP1,frameshift_variant,p.Met115ArgfsTer9,ENST00000460680,;BAP1,frameshift_variant,p.Met36ArgfsTer9,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000472337,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,3_prime_UTR_variant,,ENST00000490917,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	816-820	272	150	SUCCESS
TIFA	92610	.	GRCh37	4	113199372	113199372	+	synonymous_variant	Silent	SNP	T	T	A	rs776192185	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	44	0	ENST00000361717.3:c.201A>T	p.Arg67=	p.R67=	ENST00000361717	NM_052864.2	67	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34051.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACTCGGGA	NONE	.	.	PROSITE_profiles:PS50006,hmmpanther:PTHR31266:SF2,hmmpanther:PTHR31266,Pfam_domain:PF00498,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000354911	.	2/2	.	.	.	.	.	.	.	.	rs776192185	2/2	PASS	ENST00000361717	Transcript	.	.	ENSG00000145365	19075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIFA_HUMAN	TIFA	HGNC	.	.	UPI0000070568	SNV	TIFA,synonymous_variant,p.%3D,ENST00000361717,;TIFA,synonymous_variant,p.%3D,ENST00000500655,;RP11-73K9.3,upstream_gene_variant,,ENST00000610220,;Y_RNA,downstream_gene_variant,,ENST00000410374,;	483	44	83	SUCCESS
DCHS2	54798	.	GRCh37	4	155156796	155156796	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	59	62	0	ENST00000357232.4:c.7643T>C	p.Leu2548Ser	p.L2548S	ENST00000357232	NM_017639.3	2548	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS3785.1	7643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTAAAAAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious(0.02)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Leu2548Ser,ENST00000357232,;	7643	62	172	SUCCESS
CORIN	10699	.	GRCh37	4	47685816	47685816	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769848962	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	28	0	ENST00000273857.4:c.953G>T	p.Cys318Phe	p.C318F	ENST00000273857	NM_006587.3	318	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS3477.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGCACTTG	NONE	byFrequency	.	PROSITE_profiles:PS50068,hmmpanther:PTHR24270,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000273857	.	7/22	.	.	.	.	.	.	.	.	rs769848962	7/22	PASS	ENST00000273857	Transcript	1	.	ENSG00000145244	19012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CORIN_HUMAN	CORIN	HGNC	Q8IZR7_HUMAN,E7EQE7_HUMAN	.	UPI0000168657	SNV	CORIN,missense_variant,p.Cys179Phe,ENST00000508498,;CORIN,missense_variant,p.Cys318Phe,ENST00000273857,;CORIN,missense_variant,p.Cys251Phe,ENST00000502252,;CORIN,missense_variant,p.Cys318Phe,ENST00000505909,;CORIN,missense_variant,p.Cys318Phe,ENST00000504584,;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;CORIN,non_coding_transcript_exon_variant,,ENST00000502726,;	953	28	46	SUCCESS
FBXL7	23194	.	GRCh37	5	15936876	15936876	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	74	0	ENST00000504595.1:c.1057C>A	p.Arg353=	p.R353=	ENST00000504595	NM_012304.4	353	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54833.1	1057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCGGTAC	BUFFER|p.R353Q|c.1058G>A|4	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	COSM1206790	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,synonymous_variant,p.%3D,ENST00000329673,;FBXL7,synonymous_variant,p.%3D,ENST00000510662,;FBXL7,synonymous_variant,p.%3D,ENST00000504595,;MIR887,downstream_gene_variant,,ENST00000401258,;	1538	74	74	SUCCESS
PDCD6	10016	.	GRCh37	5	311465	311465	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	115	0	ENST00000264933.4:c.425G>A	p.Gly142Glu	p.G142E	ENST00000264933	NM_001267556.1	142	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS3854.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGACGGG	NONE	.	.	hmmpanther:PTHR10183,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000264933	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000264933	Transcript	.	.	ENSG00000249915	8765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.585)	.	deleterious(0.02)	.	PDCD6_HUMAN	PDCD6	HGNC	Q86W51_HUMAN	.	UPI00001313D9	SNV	PDCD6,missense_variant,p.Gly140Glu,ENST00000507528,;PDCD6,missense_variant,p.Gly55Glu,ENST00000507473,;PDCD6,missense_variant,p.Gly142Glu,ENST00000264933,;AHRR,intron_variant,,ENST00000505113,;PDCD6,intron_variant,,ENST00000505221,;AHRR,intron_variant,,ENST00000316418,;AHRR,intron_variant,,ENST00000512529,;PDCD6,non_coding_transcript_exon_variant,,ENST00000511482,;PDCD6,3_prime_UTR_variant,,ENST00000505526,;PDCD6,non_coding_transcript_exon_variant,,ENST00000513582,;PDCD6,non_coding_transcript_exon_variant,,ENST00000512466,;PDCD6,intron_variant,,ENST00000506909,;	525	115	93	SUCCESS
RASA1	5921	.	GRCh37	5	86672234	86672234	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs762279462	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	48	57	0	ENST00000274376.6:c.2036del	p.Arg679HisfsTer20	p.R679Hfs*20	ENST00000274376	NM_002890.2	679	cGa/ca	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS34200.1	2036	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGCCGATTAC	NONE	byFrequency	.	hmmpanther:PTHR10194,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000274376	.	16/25	.	.	.	.	.	.	.	.	rs762279462	16/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	deletion	RASA1,frameshift_variant,p.Arg512HisfsTer20,ENST00000512763,;RASA1,frameshift_variant,p.Arg502HisfsTer20,ENST00000456692,;RASA1,frameshift_variant,p.Arg679HisfsTer20,ENST00000274376,;RASA1,frameshift_variant,p.Arg513HisfsTer20,ENST00000506290,;CTC-428H11.2,non_coding_transcript_exon_variant,,ENST00000607486,;RASA1,3_prime_UTR_variant,,ENST00000515800,;	2600	57	195	SUCCESS
FAM174A	345757	.	GRCh37	5	99871275	99871275	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	86	0	ENST00000312637.4:c.41T>A	p.Leu14Ter	p.L14*	ENST00000312637	NM_198507.1	14	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS4090.1	41	MUTECT|MUSE	.	CCTCTTGGCTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,Pfam_domain:PF06679	.	.	ENSP00000307954	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000312637	Transcript	.	.	ENSG00000174132	24943	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F174A_HUMAN	FAM174A	HGNC	.	.	UPI000004BA6F	SNV	FAM174A,stop_gained,p.Leu14Ter,ENST00000312637,;CTD-2001C12.1,upstream_gene_variant,,ENST00000499025,;CTD-2001C12.1,upstream_gene_variant,,ENST00000504833,;FAM174A,non_coding_transcript_exon_variant,,ENST00000509040,;	267	86	99	SUCCESS
TES	26136	.	GRCh37	7	115850599	115850599	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	81	0	ENST00000358204.4:c.-163G>A		p.*55*	ENST00000358204	NM_015641.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5763.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCGGCGGAC	NONE	.	.	.	.	.	ENSP00000350937	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000358204	Transcript	.	.	ENSG00000135269	14620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TES_HUMAN	TES	HGNC	A4D0U5_HUMAN,Q9Y423_HUMAN,F8W7T0_HUMAN,B7Z6L5_HUMAN	.	UPI0000136BF9	SNV	TES,5_prime_UTR_variant,,ENST00000455989,;TES,5_prime_UTR_variant,,ENST00000358204,;TES,upstream_gene_variant,,ENST00000537767,;TES,upstream_gene_variant,,ENST00000496871,;TES,non_coding_transcript_exon_variant,,ENST00000461440,;TES,upstream_gene_variant,,ENST00000492891,;	53	81	80	SUCCESS
LRGUK	136332	.	GRCh37	7	133821880	133821880	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	40	0	ENST00000285928.2:c.402A>G	p.Leu134=	p.L134=	ENST00000285928	NM_144648.1	134	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5830.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTATCAGT	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000285928	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000285928	Transcript	.	.	ENSG00000155530	21964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRGUK_HUMAN	LRGUK	HGNC	.	.	UPI0000072C76	SNV	LRGUK,synonymous_variant,p.%3D,ENST00000285928,;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;	471	40	68	SUCCESS
KIAA0895	23366	.	GRCh37	7	36373513	36373513	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766376129	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	48	93	0	ENST00000297063.6:c.1258G>A	p.Asp420Asn	p.D420N	ENST00000297063	NM_001100425.1	420	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS43570.1	1258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCCCATC	NONE	byFrequency	.	hmmpanther:PTHR31817:SF3,hmmpanther:PTHR31817,Pfam_domain:PF08014	.	.	ENSP00000297063	.	5/7	.	.	.	.	.	.	.	.	rs766376129	5/7	PASS	ENST00000297063	Transcript	.	.	ENSG00000164542	22206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	K0895_HUMAN	KIAA0895	HGNC	.	.	UPI000013E3C0	SNV	KIAA0895,missense_variant,p.Asp317Asn,ENST00000436884,;KIAA0895,missense_variant,p.Asp369Asn,ENST00000317020,;KIAA0895,missense_variant,p.Asp420Asn,ENST00000297063,;KIAA0895,missense_variant,p.Asp417Asn,ENST00000440378,;KIAA0895,missense_variant,p.Asp407Asn,ENST00000338533,;KIAA0895,missense_variant,p.Asp175Asn,ENST00000453212,;KIAA0895,downstream_gene_variant,,ENST00000431396,;Y_RNA,downstream_gene_variant,,ENST00000364562,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000480192,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000483360,;KIAA0895,downstream_gene_variant,,ENST00000483526,;	1309	93	149	SUCCESS
CLN8	2055	.	GRCh37	8	1719549	1719549	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	3	110	0	ENST00000331222.4:c.329C>G	p.Ala110Gly	p.A110G	ENST00000331222	NM_018941.3	110	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS5956.1	329	MUTECT|MUSE	.	GACAGCAACGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF7,Pfam_domain:PF03798,SMART_domains:SM00724	.	.	ENSP00000328182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000331222	Transcript	1	.	ENSG00000182372	2079	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	CLN8_HUMAN	CLN8	HGNC	.	.	UPI0000169EAA	SNV	CLN8,missense_variant,p.Ala110Gly,ENST00000331222,;CLN8,downstream_gene_variant,,ENST00000524258,;CLN8,upstream_gene_variant,,ENST00000523237,;CLN8,upstream_gene_variant,,ENST00000519254,;CLN8,non_coding_transcript_exon_variant,,ENST00000520991,;	576	111	67	SUCCESS
MCMDC2	157777	.	GRCh37	8	67789682	67789682	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	32	104	0	ENST00000422365.2:c.384T>C	p.Tyr128=	p.Y128=	ENST00000422365	NM_173518.4	128	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS6197.2	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATATGAT	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF67	.	.	ENSP00000413632	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000422365	Transcript	.	.	ENSG00000178460	26368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCMD2_HUMAN	MCMDC2	HGNC	.	.	UPI00002107AF	SNV	MCMDC2,synonymous_variant,p.%3D,ENST00000541540,;MCMDC2,synonymous_variant,p.%3D,ENST00000396592,;MCMDC2,synonymous_variant,p.%3D,ENST00000492775,;MCMDC2,synonymous_variant,p.%3D,ENST00000422365,;MCMDC2,synonymous_variant,p.%3D,ENST00000313616,;MCMDC2,non_coding_transcript_exon_variant,,ENST00000469823,;MCMDC2,3_prime_UTR_variant,,ENST00000428734,;MCMDC2,intron_variant,,ENST00000415737,;	555	104	120	SUCCESS
SARDH	1757	.	GRCh37	9	136595229	136595229	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	5	92	0	ENST00000371872.4:c.771T>G	p.Thr257=	p.T257=	ENST00000371872	NM_007101.3	257	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS6978.1	771	MUTECT|MUSE	.	TGCTGAGTCTC	NONE	.	.	hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18,Pfam_domain:PF01266,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000360938	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000371872	Transcript	.	.	ENSG00000123453	10536	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SARDH_HUMAN	SARDH	HGNC	Q5SYV1_HUMAN,B4DPI2_HUMAN	.	UPI000006F076	SNV	SARDH,synonymous_variant,p.%3D,ENST00000439388,;SARDH,synonymous_variant,p.%3D,ENST00000298628,;SARDH,synonymous_variant,p.%3D,ENST00000371872,;SARDH,synonymous_variant,p.%3D,ENST00000371867,;SARDH,synonymous_variant,p.%3D,ENST00000427237,;SARDH,synonymous_variant,p.%3D,ENST00000422262,;	1029	92	67	SUCCESS
UBAP2	55833	.	GRCh37	9	33932569	33932569	+	synonymous_variant	Silent	SNP	C	C	T	rs1371980060	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	27	68	0	ENST00000360802.1:c.2166G>A	p.Thr722=	p.T722=	ENST00000360802	NM_018449.2	722	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6547.1	2166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACGTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17	.	.	ENSP00000368540	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,synonymous_variant,p.%3D,ENST00000379238,;UBAP2,synonymous_variant,p.%3D,ENST00000379239,;UBAP2,synonymous_variant,p.%3D,ENST00000449054,;UBAP2,synonymous_variant,p.%3D,ENST00000539807,;UBAP2,synonymous_variant,p.%3D,ENST00000360802,;UBAP2,intron_variant,,ENST00000418786,;UBAP2,downstream_gene_variant,,ENST00000379225,;UBAP2,upstream_gene_variant,,ENST00000379235,;SNORD121B,downstream_gene_variant,,ENST00000458838,;UBAP2,non_coding_transcript_exon_variant,,ENST00000474372,;UBAP2,intron_variant,,ENST00000488443,;	2284	68	50	SUCCESS
ANKRD20A4	0	.	GRCh37	9	69389993	69389993	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	18	0	ENST00000357336.3:c.547G>A	p.Glu183Lys	p.E183K	ENST00000357336	NM_001098805.1	183	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43828.1	547	RADIA|VARSCANS	.	TGGTGGAATTT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24147:SF1,hmmpanther:PTHR24147,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000349891	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000357336	Transcript	.	.	ENSG00000172014	31982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.096)	.	deleterious(0)	.	A20A4_HUMAN	ANKRD20A4	HGNC	.	.	UPI000051917A	SNV	ANKRD20A4,missense_variant,p.Glu183Lys,ENST00000357336,;RNU6-1193P,upstream_gene_variant,,ENST00000459461,;ANKRD20A4,non_coding_transcript_exon_variant,,ENST00000427650,;	828	18	25	SUCCESS
MAGEC1	9947	.	GRCh37	X	140995873	140995873	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1252863127	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	65	92	0	ENST00000285879.4:c.2683G>A	p.Glu895Lys	p.E895K	ENST00000285879	NM_005462.4	895	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS35417.1	2683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGAGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736	.	.	ENSP00000285879	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000285879	Transcript	.	.	ENSG00000155495	6812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	MAGC1_HUMAN	MAGEC1	HGNC	A0PK03_HUMAN	.	UPI000006F2FD	SNV	MAGEC1,missense_variant,p.Glu895Lys,ENST00000285879,;MAGEC1,splice_region_variant,,ENST00000406005,;	2969	92	191	SUCCESS
MAGEA5	4104	.	GRCh37	X	151283912	151283912	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs779550506	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	104	158	0	ENST00000427663.2:n.306A>T		p.*102*	ENST00000427663				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTCAGTA	NONE	byFrequency	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	rs779550506	4/4	PASS	ENST00000509345	Transcript	.	.	ENSG00000266560	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1007I13.4	Clone_based_vega_gene	.	.	.	SNV	RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000583636,;RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000509345,;MAGEA5,non_coding_transcript_exon_variant,,ENST00000427663,;MAGEA5,non_coding_transcript_exon_variant,,ENST00000446757,;	425	158	276	SUCCESS
ZNF275	10838	.	GRCh37	X	152612617	152612617	+	synonymous_variant	Silent	SNP	C	C	T	rs370281502	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	67	187	0	ENST00000370251.3:c.474C>T	p.Pro158=	p.P158=	ENST00000370251	NM_001080485.3	158	ccC/ccT	0	T:0.0003	.	.	.	.	T	P	protein_coding	YES	.	474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCGGCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF13	.	T:0	ENSP00000359271	.	4/5	.	.	.	.	.	.	.	.	rs370281502	4/5	PASS	ENST00000370251	Transcript	.	.	ENSG00000063587	13069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF275	HGNC	A6NFS0_HUMAN	.	UPI000059DBB5	SNV	ZNF275,synonymous_variant,p.%3D,ENST00000370251,;ZNF275,synonymous_variant,p.%3D,ENST00000440091,;ZNF275,synonymous_variant,p.%3D,ENST00000370249,;ZNF275,synonymous_variant,p.%3D,ENST00000421401,;snoU13,upstream_gene_variant,,ENST00000459572,;ZNF275,upstream_gene_variant,,ENST00000438239,;	651	187	217	SUCCESS
KLHL34	257240	.	GRCh37	X	21675401	21675401	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	100	0	ENST00000379499.2:c.506C>A	p.Ala169Glu	p.A169E	ENST00000379499	NM_153270.1	169	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS14199.1	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24412:SF66,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000368813	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379499	Transcript	.	.	ENSG00000185915	26634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0.02)	.	KLH34_HUMAN	KLHL34	HGNC	.	.	UPI0000072CC4	SNV	KLHL34,missense_variant,p.Ala169Glu,ENST00000379499,;CNKSR2,downstream_gene_variant,,ENST00000379510,;CNKSR2,downstream_gene_variant,,ENST00000425654,;	1048	100	72	SUCCESS
CXorf30	0	.	GRCh37	X	36366324	36366324	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	723	26	349	0	ENST00000378657.4:c.862G>A	p.Val288Ile	p.V288I	ENST00000378657	NM_001098843.4	288	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS55396.1	862	MUTECT|MUSE	.	CAATGGTTATT	NONE	.	.	hmmpanther:PTHR23053:SF7,hmmpanther:PTHR23053	.	.	ENSP00000367926	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000378657	Transcript	.	.	ENSG00000205081	27298	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.287)	.	tolerated(0.08)	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,missense_variant,p.Val288Ile,ENST00000378657,;CXorf30,missense_variant,p.Val573Ile,ENST00000378653,;	1510	349	749	SUCCESS
SLC9A7	84679	.	GRCh37	X	46480492	46480492	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs148600278	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	28	0	ENST00000328306.4:c.1740C>T		p.X580_splice	ENST00000328306	NM_001257291.1	580	gaC/gaT	0	A:0	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS14269.1	1740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGTCCTA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94	A:0.003	A:0.001	ENSP00000330320	A:0	15/17	.	.	.	.	.	.	.	.	rs148600278	15/17	common_in_exac	ENST00000328306	Transcript	.	A:0.0019	ENSG00000065923	17123	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0041	.	.	SL9A7_HUMAN	SLC9A7	HGNC	.	.	UPI0000071389	SNV	SLC9A7,synonymous_variant,p.%3D,ENST00000328306,;SLC9A7,splice_region_variant,,ENST00000464933,;SLC9A7,intron_variant,,ENST00000489574,;SLC9A7,upstream_gene_variant,,ENST00000491894,;	1766	28	59	SUCCESS
ITIH6	347365	.	GRCh37	X	54781461	54781461	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	72	148	1	ENST00000218436.6:c.3191G>C	p.Gly1064Ala	p.G1064A	ENST00000218436	NM_198510.2	1064	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS14361.1	3191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAACCCCACA	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	.	ENSP00000218436	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.7)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Gly1064Ala,ENST00000218436,;	3221	149	313	SUCCESS
PLEKHA1	59338	.	GRCh37	10	124189324	124189324	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746534987	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	64	0	ENST00000368990.3:c.1085C>T	p.Ser362Phe	p.S362F	ENST00000368990	NM_001001974.2	362	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS7629.1	1085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCTCCAA	NONE	byFrequency	.	hmmpanther:PTHR14336,hmmpanther:PTHR14336:SF4	.	.	ENSP00000357986	.	12/12	.	.	.	.	.	.	.	.	rs746534987	12/12	PASS	ENST00000368990	Transcript	.	.	ENSG00000107679	14335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.06)	.	PKHA1_HUMAN	PLEKHA1	HGNC	R4GMZ9_HUMAN,B3KQL5_HUMAN	.	UPI000000D9DC	SNV	PLEKHA1,missense_variant,p.Ser362Phe,ENST00000392799,;PLEKHA1,missense_variant,p.Leu376Phe,ENST00000368988,;PLEKHA1,missense_variant,p.Ser362Phe,ENST00000433307,;PLEKHA1,missense_variant,p.Leu376Phe,ENST00000368989,;PLEKHA1,missense_variant,p.Ser362Phe,ENST00000368990,;PLEKHA1,3_prime_UTR_variant,,ENST00000538022,;PLEKHA1,downstream_gene_variant,,ENST00000481451,;	1216	64	100	SUCCESS
SLC39A12	221074	.	GRCh37	10	18270325	18270325	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	41	115	0	ENST00000377369.2:c.1009A>T	p.Ser337Cys	p.S337C	ENST00000377369	NM_001145195.1	337	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS44362.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGAGTCCA	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.33)	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Ser337Cys,ENST00000377369,;SLC39A12,missense_variant,p.Ser203Cys,ENST00000539911,;SLC39A12,missense_variant,p.Ser337Cys,ENST00000377371,;SLC39A12,missense_variant,p.Ser337Cys,ENST00000377374,;	1282	115	121	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49658574	49658574	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1309338429	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	49	0	ENST00000249601.4:c.1598G>A	p.Arg533His	p.R533H	ENST00000249601	NM_021226.3	533	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS58080.1	1646	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCGCGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521	.	.	ENSP00000412461	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.09)	.	deleterious(0.04)	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Arg539His,ENST00000435790,;ARHGAP22,missense_variant,p.Arg374His,ENST00000374170,;ARHGAP22,missense_variant,p.Arg533His,ENST00000249601,;ARHGAP22,missense_variant,p.Arg424His,ENST00000374172,;ARHGAP22,missense_variant,p.Arg366His,ENST00000477708,;ARHGAP22,missense_variant,p.Arg549His,ENST00000417912,;ARHGAP22,missense_variant,p.Arg443His,ENST00000417247,;ARHGAP22,downstream_gene_variant,,ENST00000471013,;ARHGAP22,downstream_gene_variant,,ENST00000515523,;ARHGAP22,downstream_gene_variant,,ENST00000489984,;ARHGAP22,3_prime_UTR_variant,,ENST00000460425,;	1802	49	41	SUCCESS
CHAT	1103	.	GRCh37	10	50872913	50872913	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	95	0	ENST00000337653.2:c.2068C>A	p.Leu690Ile	p.L690I	ENST00000337653	NM_020549.4	690	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS7232.1	2068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCTTTTC	NONE	.	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000337103	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000337653	Transcript	1	.	ENSG00000070748	1912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.66)	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,missense_variant,p.Leu572Ile,ENST00000351556,;CHAT,missense_variant,p.Leu608Ile,ENST00000395562,;CHAT,missense_variant,p.Leu572Ile,ENST00000395559,;CHAT,missense_variant,p.Leu572Ile,ENST00000339797,;CHAT,missense_variant,p.Leu690Ile,ENST00000337653,;CHAT,intron_variant,,ENST00000455728,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	2221	95	87	SUCCESS
BMS1P4	729096	.	GRCh37	10	75490211	75490211	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	20	0	ENST00000584747.1:n.17G>T		p.*6*	ENST00000584747				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCACCGAAC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000580790	Transcript	.	.	ENSG00000271816	.	.	.	LOW	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-574K11.28	Clone_based_vega_gene	.	.	.	SNV	RP11-574K11.28,splice_region_variant,,ENST00000580790,;RP11-464F9.1,non_coding_transcript_exon_variant,,ENST00000449532,;BMS1P4,non_coding_transcript_exon_variant,,ENST00000584747,;RP11-464F9.1,non_coding_transcript_exon_variant,,ENST00000399449,;GLUD1P3,upstream_gene_variant,,ENST00000507952,;BMS1P4,upstream_gene_variant,,ENST00000441263,;DUSP8P5,upstream_gene_variant,,ENST00000422884,;GLUD1P3,upstream_gene_variant,,ENST00000508551,;	.	20	31	SUCCESS
PCSK7	9159	.	GRCh37	11	117078731	117078738	+	frameshift_variant	Frame_Shift_Del	DEL	CCCAGCAT	CCCAGCAT	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	CCCAGCAT	CCCAGCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	546	60	664	0	ENST00000320934.3:c.1734_1741delinsC	p.Cys579GlyfsTer30	p.C579Gfs*30	ENST00000320934	NM_004716.2	578	cgATGCTGGGgg/cgCgg	0	.	.	.	.	.	G	RCWG/RX	protein_coding	YES	CCDS8382.1	1734-1741	INDELOCATOR*|PINDEL	.	TCTCCCCCCAGCATCGCAC	NONE	.	.	hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795,Pfam_domain:PF01483,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	.	ENSP00000325917	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000320934	Transcript	.	.	ENSG00000160613	8748	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCSK7_HUMAN	PCSK7	HGNC	E9PMC0_HUMAN,E9PLM0_HUMAN,E9PIW7_HUMAN,B3KUH2_HUMAN	.	UPI0000070E4E	substitution	PCSK7,frameshift_variant,p.Cys579GlyfsTer30,ENST00000320934,;PCSK7,frameshift_variant,p.Cys220GlyfsTer33,ENST00000540028,;TAGLN,downstream_gene_variant,,ENST00000525531,;TAGLN,downstream_gene_variant,,ENST00000529622,;TAGLN,downstream_gene_variant,,ENST00000530649,;TAGLN,downstream_gene_variant,,ENST00000529792,;TAGLN,downstream_gene_variant,,ENST00000532870,;TAGLN,downstream_gene_variant,,ENST00000278968,;TAGLN,downstream_gene_variant,,ENST00000392951,;PCSK7,non_coding_transcript_exon_variant,,ENST00000533135,;PCSK7,non_coding_transcript_exon_variant,,ENST00000529458,;PCSK7,non_coding_transcript_exon_variant,,ENST00000532810,;PCSK7,non_coding_transcript_exon_variant,,ENST00000534529,;PCSK7,non_coding_transcript_exon_variant,,ENST00000527037,;PCSK7,non_coding_transcript_exon_variant,,ENST00000527861,;PCSK7,non_coding_transcript_exon_variant,,ENST00000531573,;PCSK7,downstream_gene_variant,,ENST00000528973,;TAGLN,downstream_gene_variant,,ENST00000533863,;	2365-2372	664	606	SUCCESS
SPON1	10418	.	GRCh37	11	13984575	13984575	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs996546516	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	60	145	0	ENST00000310358.7:n.662G>A		p.*221*	ENST00000310358				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGGCTAC	NONE	.	.	.	.	.	.	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000310358	Transcript	.	.	ENSG00000152268	11252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPON1	HGNC	.	.	.	SNV	SPON1,non_coding_transcript_exon_variant,,ENST00000533633,;SPON1,non_coding_transcript_exon_variant,,ENST00000310358,;	662	145	161	SUCCESS
UEVLD	55293	.	GRCh37	11	18553955	18553955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	65	0	ENST00000396197.3:c.1328A>G	p.Lys443Arg	p.K443R	ENST00000396197	NM_001040697.2	443	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS41624.1	1328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTTTGATA	NONE	.	.	hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18,Gene3D:3.90.110.10,Pfam_domain:PF02866,Superfamily_domains:SSF56327	.	.	ENSP00000379500	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000396197	Transcript	.	.	ENSG00000151116	30866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	UEVLD_HUMAN	UEVLD	HGNC	B4DWH4_HUMAN,B4DIA9_HUMAN	.	UPI00001AF2D2	SNV	UEVLD,missense_variant,p.Lys421Arg,ENST00000379387,;UEVLD,missense_variant,p.Lys443Arg,ENST00000396197,;UEVLD,3_prime_UTR_variant,,ENST00000541984,;UEVLD,3_prime_UTR_variant,,ENST00000535484,;UEVLD,3_prime_UTR_variant,,ENST00000320750,;UEVLD,3_prime_UTR_variant,,ENST00000543987,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,3_prime_UTR_variant,,ENST00000396196,;UEVLD,non_coding_transcript_exon_variant,,ENST00000539569,;	1357	65	97	SUCCESS
LGR4	55366	.	GRCh37	11	27389741	27389741	+	synonymous_variant	Silent	SNP	G	G	A	rs145204350	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	55	0	ENST00000379214.4:c.2529C>T	p.Tyr843=	p.Y843=	ENST00000379214	NM_018490.2	843	taC/taT	0	A:0.0002	.	.	.	.	A	Y	protein_coding	YES	CCDS31449.1	2529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCGTAGTA	NONE	byCluster	.	hmmpanther:PTHR24367:SF246,hmmpanther:PTHR24367	.	A:0	ENSP00000368516	.	18/18	.	.	.	.	.	.	.	.	rs145204350	18/18	PASS	ENST00000379214	Transcript	.	.	ENSG00000205213	13299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR4_HUMAN	LGR4	HGNC	Q59ER8_HUMAN	.	UPI00000373E7	SNV	LGR4,synonymous_variant,p.%3D,ENST00000389858,;LGR4,synonymous_variant,p.%3D,ENST00000379214,;CCDC34,upstream_gene_variant,,ENST00000328697,;CCDC34,upstream_gene_variant,,ENST00000317945,;LGR4,downstream_gene_variant,,ENST00000489910,;	2973	55	71	SUCCESS
IRF7	3665	.	GRCh37	11	613275	613275	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	20	83	0	ENST00000397574.2:c.1168del	p.Ser390ProfsTer62	p.S390Pfs*62	ENST00000397574	NM_001572.3	390	Tcc/cc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS7705.1	1207	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTGGAGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF2,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	.	.	ENSP00000380697	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000397566	Transcript	.	.	ENSG00000185507	6122	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRF7_HUMAN	IRF7	HGNC	Q9HB64_HUMAN,E9PSE3_HUMAN,B4E1B1_HUMAN	.	UPI000013C689	deletion	IRF7,frameshift_variant,p.Ser403ProfsTer62,ENST00000330243,;IRF7,frameshift_variant,p.Ser403ProfsTer62,ENST00000397566,;IRF7,frameshift_variant,p.Ser361ProfsTer62,ENST00000348655,;IRF7,frameshift_variant,p.Ser284ProfsTer62,ENST00000525445,;IRF7,frameshift_variant,p.Ser361ProfsTer62,ENST00000397570,;IRF7,frameshift_variant,p.Ser97ProfsTer62,ENST00000397562,;IRF7,frameshift_variant,p.Ser390ProfsTer62,ENST00000397574,;PHRF1,downstream_gene_variant,,ENST00000264555,;CDHR5,downstream_gene_variant,,ENST00000397542,;CDHR5,downstream_gene_variant,,ENST00000349570,;PHRF1,downstream_gene_variant,,ENST00000413872,;CDHR5,downstream_gene_variant,,ENST00000358353,;PHRF1,downstream_gene_variant,,ENST00000533464,;PHRF1,downstream_gene_variant,,ENST00000416188,;IRF7,3_prime_UTR_variant,,ENST00000532326,;IRF7,3_prime_UTR_variant,,ENST00000469048,;IRF7,3_prime_UTR_variant,,ENST00000533182,;IRF7,non_coding_transcript_exon_variant,,ENST00000531912,;IRF7,intron_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532788,;CDHR5,downstream_gene_variant,,ENST00000531177,;PHRF1,downstream_gene_variant,,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000525750,;IRF7,downstream_gene_variant,,ENST00000533190,;	1617	83	95	SUCCESS
ZNF214	7761	.	GRCh37	11	7022371	7022371	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	50	0	ENST00000278314.4:c.543A>G	p.Glu181=	p.E181=	ENST00000278314	NM_013249.2	181	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS31418.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTTCTTT	NONE	.	.	hmmpanther:PTHR24402:SF54,hmmpanther:PTHR24402	.	.	ENSP00000278314	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000278314	Transcript	.	.	ENSG00000149050	13006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN214_HUMAN	ZNF214	HGNC	.	.	UPI000013DB6B	SNV	ZNF214,synonymous_variant,p.%3D,ENST00000536068,;ZNF214,synonymous_variant,p.%3D,ENST00000278314,;ZNF214,downstream_gene_variant,,ENST00000531083,;	859	50	74	SUCCESS
ASCL1	429	.	GRCh37	12	103352142	103352170	+	frameshift_variant	Frame_Shift_Del	DEL	CGCAGCCGCCGCAGCGGCAGCGCAGAGCG	CGCAGCCGCCGCAGCGGCAGCGCAGAGCG	-	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	CGCAGCCGCCGCAGCGGCAGCGCAGAGCG	CGCAGCCGCCGCAGCGGCAGCGCAGAGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	40	0	ENST00000266744.3:c.126_154del	p.Gln48AlafsTer99	p.Q48Afs*99	ENST00000266744	NM_004316.3	40	gcCGCAGCCGCCGCAGCGGCAGCGCAGAGCGcg/gccg	0	.	.	.	.	.	-	AAAAAAAAQSA/AX	protein_coding	YES	CCDS31886.1	120-148	INDELOCATOR|VARSCANI	.	GGCGGCCGCAGCCGCCGCAGCGGCAGCGCAGAGCGCGCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13935:SF40,hmmpanther:PTHR13935	.	.	ENSP00000266744	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000266744	Transcript	.	.	ENSG00000139352	738	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASCL1_HUMAN	ASCL1	HGNC	.	.	UPI0000047FC7	deletion	ASCL1,frameshift_variant,p.Gln48AlafsTer99,ENST00000266744,;PAH,5_prime_UTR_variant,,ENST00000551337,;PAH,non_coding_transcript_exon_variant,,ENST00000547319,;	679-707	40	37	SUCCESS
ATP2A2	488	.	GRCh37	12	110719613	110719613	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	47	0	ENST00000539276.2:c.19A>C	p.Lys7Gln	p.K7Q	ENST00000539276		7	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS9144.1	19	RADIA|MUTECT|MUSE	.	ACACCAAGACG	NONE	.	.	hmmpanther:PTHR24093:SF234,hmmpanther:PTHR24093,Pfam_domain:PF00690,SMART_domains:SM00831,Superfamily_domains:0049473	.	.	ENSP00000440045	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000539276	Transcript	.	.	ENSG00000174437	812	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.169)	.	tolerated(0.1)	.	AT2A2_HUMAN	ATP2A2	HGNC	.	.	UPI0000001C3A	SNV	ATP2A2,missense_variant,p.Lys7Gln,ENST00000308664,;ATP2A2,missense_variant,p.Lys7Gln,ENST00000395494,;ATP2A2,missense_variant,p.Lys7Gln,ENST00000539276,;ATP2A2,intron_variant,,ENST00000552636,;ATP2A2,missense_variant,p.Lys7Gln,ENST00000377685,;	128	47	27	SUCCESS
BRAP	8315	.	GRCh37	12	112119568	112119568	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	83	157	0	ENST00000419234.4:c.316C>T	p.His106Tyr	p.H106Y	ENST00000419234	NM_006768.3	106	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS9154.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTGATCTT	NONE	.	.	hmmpanther:PTHR24007	.	.	ENSP00000403524	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000419234	Transcript	.	.	ENSG00000089234	1099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.04)	.	BRAP_HUMAN	BRAP	HGNC	Q59H81_HUMAN,J3KNN7_HUMAN	.	UPI00001AF597	SNV	BRAP,missense_variant,p.His106Tyr,ENST00000419234,;BRAP,missense_variant,p.His76Tyr,ENST00000327551,;ACAD10,upstream_gene_variant,,ENST00000392636,;ACAD10,upstream_gene_variant,,ENST00000549590,;ACAD10,upstream_gene_variant,,ENST00000515283,;ACAD10,upstream_gene_variant,,ENST00000313698,;ACAD10,upstream_gene_variant,,ENST00000514615,;BRAP,upstream_gene_variant,,ENST00000539060,;ACAD10,upstream_gene_variant,,ENST00000455480,;ACAD10,upstream_gene_variant,,ENST00000552965,;ACAD10,upstream_gene_variant,,ENST00000413681,;ACAD10,upstream_gene_variant,,ENST00000509936,;ACAD10,upstream_gene_variant,,ENST00000507135,;ACAD10,upstream_gene_variant,,ENST00000511915,;	510	157	197	SUCCESS
KRAS	3845	.	GRCh37	12	25398285	25398285	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913530	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	49	129	0	ENST00000256078.4:c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	NM_033360.2	12	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS8703.1	34	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCAGCTC	SITE|p.G12C|c.34G>T|3713,SITE|p.G12C|c.34G>T|80,CODON|p.G12E|c.35_36GT>AA|3,CODON|p.G12V|c.35_36GT>TC|6,CODON|p.G12W|c.34_36GGT>TGG|3,CODON|p.G12F|c.34_35GG>TT|46,CODON|p.G12Y|c.34_35GG>TA|3,CODON|p.G12I|c.34_35GG>AT|5,CODON|p.G12L|c.34_35GG>CT|8,CODON|p.G12G|c.36T>A|4,CODON|p.G12G|c.36T>C|7,CODON|p.G12V|c.35G>T|7138,CODON|p.G12V|c.35G>T|329,CODON|p.G12A|c.35G>C|1694,CODON|p.G12D|c.35G>A|10719,CODON|p.G12D|c.35G>A|342,CODON|p.G12A|c.35G>C|39,BUFFER|p.G13_V14insG|c.39_40insGGC|3,BUFFER|p.G13D|c.38_39GC>AT|22,BUFFER|p.G13V|c.38_39GC>TT|6,BUFFER|p.V14I|c.40G>A|16,BUFFER|p.G13G|c.39C>T|7,BUFFER|p.G13G|c.39C>A|9,BUFFER|p.G13G|c.39C>G|3,BUFFER|p.G13V|c.38G>T|30,BUFFER|p.G13D|c.38G>A|3959,BUFFER|p.G13A|c.38G>C|30,BUFFER|p.G13D|c.38G>A|76,BUFFER|p.G13C|c.37G>T|276,BUFFER|p.G13S|c.37G>A|67,BUFFER|p.G13R|c.37G>C|50,BUFFER|p.G13C|c.37G>T|10,BUFFER|p.G12_G13insG|c.36_37insGGT|5,BUFFER|p.G12R|c.34G>C|1024,BUFFER|p.G12S|c.34G>A|1507,BUFFER|p.G12S|c.34G>A|27,BUFFER|p.G12R|c.34G>C|101,BUFFER|p.A11V|c.32C>T|3,BUFFER|p.G10_A11insG|c.30_31insGGA|5,BUFFER|p.V8V|c.24A>G|3	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000256078	.	2/6	.	.	.	.	.	.	.	.	CM076251,COSM518,COSM517,COSM516,COSM1152506,COSM1157797,COSM1140136	2/6	PASS	ENST00000256078	Transcript	.	.	ENSG00000133703	6407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1,1	.	.	probably_damaging(0.993)	.	deleterious(0.04)	0,1,1,1,1,1,1	RASK_HUMAN	KRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN	.	UPI0000133132	SNV	KRAS,missense_variant,p.Gly12Cys,ENST00000256078,;KRAS,missense_variant,p.Gly12Cys,ENST00000311936,;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	98	129	139	SUCCESS
ITPR2	3709	.	GRCh37	12	26864115	26864115	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	42	1	ENST00000381340.3:c.942A>G	p.Leu314=	p.L314=	ENST00000381340	NM_002223.2	314	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS41764.1	942	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTAAATA	NONE	.	.	PROSITE_profiles:PS50919,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,SMART_domains:SM00472,Superfamily_domains:SSF82109	.	.	ENSP00000370744	.	9/57	.	.	.	.	.	.	.	.	.	9/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,synonymous_variant,p.%3D,ENST00000381340,;ITPR2,non_coding_transcript_exon_variant,,ENST00000540791,;ITPR2,downstream_gene_variant,,ENST00000545235,;	1359	43	52	SUCCESS
BAZ2A	11176	.	GRCh37	12	57030145	57030145	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	13	0	ENST00000551812.1:c.-176A>G		p.*59*	ENST00000551812	NM_013449.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44924.1	.	MUTECT|MUSE	.	GGTGATGTCCC	NONE	.	.	.	.	.	ENSP00000446880	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,5_prime_UTR_variant,,ENST00000379441,;BAZ2A,5_prime_UTR_variant,,ENST00000551812,;BAZ2A,5_prime_UTR_variant,,ENST00000179765,;ATP5B,downstream_gene_variant,,ENST00000551570,;ATP5B,downstream_gene_variant,,ENST00000552104,;ATP5B,downstream_gene_variant,,ENST00000552959,;ATP5B,downstream_gene_variant,,ENST00000553007,;BAZ2A,upstream_gene_variant,,ENST00000549506,;ATP5B,downstream_gene_variant,,ENST00000552919,;ATP5B,downstream_gene_variant,,ENST00000262030,;ATP5B,downstream_gene_variant,,ENST00000551020,;BAZ2A,intron_variant,,ENST00000550730,;ATP5B,downstream_gene_variant,,ENST00000547808,;ATP5B,downstream_gene_variant,,ENST00000550162,;ATP5B,downstream_gene_variant,,ENST00000551182,;ATP5B,downstream_gene_variant,,ENST00000547250,;ATP5B,downstream_gene_variant,,ENST00000548474,;	19	13	11	SUCCESS
CCDC122	160857	.	GRCh37	13	44411471	44411471	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	45	0	ENST00000444614.3:c.767A>T	p.Gln256Leu	p.Q256L	ENST00000444614	NM_144974.3	256	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9390.2	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTTGAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF165,hmmpanther:PTHR18937	.	.	ENSP00000407763	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000444614	Transcript	.	.	ENSG00000151773	26478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.14)	.	CC122_HUMAN	CCDC122	HGNC	.	.	UPI0000470101	SNV	CCDC122,missense_variant,p.Gln256Leu,ENST00000444614,;CCDC122,intron_variant,,ENST00000470137,;	1026	45	62	SUCCESS
VPS36	51028	.	GRCh37	13	53010479	53010479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	61	142	0	ENST00000378060.4:c.297G>T	p.Gln99His	p.Q99H	ENST00000378060	NM_016075.2	99	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS9434.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTCTGGAA	NONE	.	.	PROSITE_profiles:PS51495,hmmpanther:PTHR13128:SF12,hmmpanther:PTHR13128,Superfamily_domains:SSF50729	.	.	ENSP00000367299	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000378060	Transcript	.	.	ENSG00000136100	20312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.769)	.	tolerated(0.12)	.	VPS36_HUMAN	VPS36	HGNC	.	.	UPI000013CFE6	SNV	VPS36,missense_variant,p.Gln99His,ENST00000378060,;VPS36,non_coding_transcript_exon_variant,,ENST00000480923,;VPS36,non_coding_transcript_exon_variant,,ENST00000475375,;	325	142	149	SUCCESS
SEC23A	10484	.	GRCh37	14	39560758	39560758	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	41	80	0	ENST00000307712.6:c.526C>T	p.His176Tyr	p.H176Y	ENST00000307712	NM_006364.2	176	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS9668.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGAACCT	NONE	.	.	hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF5,Gene3D:3.40.50.410,Pfam_domain:PF04811,Superfamily_domains:SSF53300	.	.	ENSP00000306881	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000307712	Transcript	.	.	ENSG00000100934	10701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.421)	.	tolerated(0.07)	.	SC23A_HUMAN	SEC23A	HGNC	G3V5K1_HUMAN,G3V3G5_HUMAN,G3V2R6_HUMAN,B3KXI2_HUMAN	.	UPI000013EC46	SNV	SEC23A,missense_variant,p.His50Tyr,ENST00000536508,;SEC23A,missense_variant,p.His176Tyr,ENST00000307712,;SEC23A,missense_variant,p.His147Tyr,ENST00000545328,;SEC23A,downstream_gene_variant,,ENST00000555425,;SEC23A,downstream_gene_variant,,ENST00000556092,;SEC23A,downstream_gene_variant,,ENST00000555017,;SEC23A,downstream_gene_variant,,ENST00000557437,;SEC23A,downstream_gene_variant,,ENST00000548032,;SEC23A,downstream_gene_variant,,ENST00000557280,;SEC23A,downstream_gene_variant,,ENST00000553970,;SEC23A,upstream_gene_variant,,ENST00000537403,;SEC23A,non_coding_transcript_exon_variant,,ENST00000555682,;RP11-545M17.2,downstream_gene_variant,,ENST00000554037,;	1044	80	99	SUCCESS
ESR2	2100	.	GRCh37	14	64699953	64699953	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141940742	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	63	0	ENST00000341099.4:c.1495G>A	p.Val499Met	p.V499M	ENST00000341099	NM_001437.2	499	Gtg/Atg	0	.	T:0.0015	.	T:0	.	T	V/M	protein_coding	YES	CCDS9762.1	1495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCACGTGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF1,PIRSF_domain:PIRSF500102,PIRSF_domain:PIRSF002527	T:0	.	ENSP00000343925	T:0	9/9	.	.	.	.	.	.	.	.	rs141940742,COSM956977	9/9	PASS	ENST00000341099	Transcript	.	T:0.0004	ENSG00000140009	3468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	T:0	tolerated(0.2)	0,1	ESR2_HUMAN	ESR2	HGNC	Q7LCB3_HUMAN,G3V5S2_HUMAN	.	UPI0000000964	SNV	ESR2,missense_variant,p.Val408Met,ENST00000267525,;ESR2,missense_variant,p.Val499Met,ENST00000341099,;ESR2,3_prime_UTR_variant,,ENST00000557772,;ESR2,intron_variant,,ENST00000357782,;ESR2,intron_variant,,ENST00000553796,;ESR2,intron_variant,,ENST00000353772,;ESR2,intron_variant,,ENST00000555278,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000554572,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000358599,;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,;ESR2,downstream_gene_variant,,ENST00000555783,;ESR2,intron_variant,,ENST00000344288,;	1913	63	53	SUCCESS
PPP1R36	145376	.	GRCh37	14	65054887	65054887	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	37	60	0	ENST00000298705.1:c.956C>T	p.Thr319Ile	p.T319I	ENST00000298705	NM_172365.1	319	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS9767.1	956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTACTCTGC	NONE	.	.	hmmpanther:PTHR21055,Pfam_domain:PF14895	.	.	ENSP00000298705	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000298705	Transcript	.	.	ENSG00000165807	20097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PPR36_HUMAN	PPP1R36	HGNC	G3V5S6_HUMAN,E9PLB5_HUMAN	.	UPI0000070446	SNV	PPP1R36,missense_variant,p.Thr319Ile,ENST00000298705,;RP11-973N13.3,intron_variant,,ENST00000556634,;RP11-973N13.3,intron_variant,,ENST00000554454,;PPP1R36,3_prime_UTR_variant,,ENST00000467261,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000554400,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000556023,;	1052	60	74	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68265207	68265207	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	78	0	ENST00000347230.4:c.1772C>G	p.Pro591Arg	p.P591R	ENST00000347230	NM_015346.3	591	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS9788.1	1772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGGGTGA	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115	.	.	ENSP00000251119	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	tolerated(0.22)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Pro591Arg,ENST00000555452,;ZFYVE26,missense_variant,p.Pro591Arg,ENST00000347230,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;RP11-1012A1.7,upstream_gene_variant,,ENST00000557141,;	1911	78	98	SUCCESS
ZC3H14	79882	.	GRCh37	14	89038562	89038562	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	88	179	0	ENST00000251038.5:c.424A>G	p.Asn142Asp	p.N142D	ENST00000251038	NM_024824.4	142	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS32133.1	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAAATGTC	NONE	.	.	hmmpanther:PTHR14738,hmmpanther:PTHR14738:SF29	.	.	ENSP00000251038	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000251038	Transcript	1	.	ENSG00000100722	20509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.6)	.	ZC3HE_HUMAN	ZC3H14	HGNC	G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN	.	UPI00001BDB9B	SNV	ZC3H14,missense_variant,p.Asn108Asp,ENST00000336693,;ZC3H14,missense_variant,p.Asn142Asp,ENST00000555755,;ZC3H14,missense_variant,p.Asn129Asp,ENST00000556158,;ZC3H14,missense_variant,p.Asn142Asp,ENST00000393514,;ZC3H14,missense_variant,p.Asn108Asp,ENST00000555799,;ZC3H14,missense_variant,p.Asn142Asp,ENST00000302216,;ZC3H14,missense_variant,p.Asn142Asp,ENST00000251038,;ZC3H14,missense_variant,p.Asn108Asp,ENST00000359301,;ZC3H14,missense_variant,p.Asn142Asp,ENST00000556945,;ZC3H14,missense_variant,p.Asn108Asp,ENST00000557693,;ZC3H14,missense_variant,p.Asn58Asp,ENST00000556000,;ZC3H14,5_prime_UTR_variant,,ENST00000557607,;ZC3H14,downstream_gene_variant,,ENST00000555120,;ZC3H14,downstream_gene_variant,,ENST00000554602,;ZC3H14,upstream_gene_variant,,ENST00000557047,;ZC3H14,upstream_gene_variant,,ENST00000557605,;ZC3H14,3_prime_UTR_variant,,ENST00000553495,;ZC3H14,upstream_gene_variant,,ENST00000556110,;	649	179	214	SUCCESS
FAN1	22909	.	GRCh37	15	31197246	31197246	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770245769	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	105	0	ENST00000362065.4:c.380C>A	p.Pro127His	p.P127H	ENST00000362065	NM_014967.4	127	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS32186.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCCCTACT	NONE	byFrequency	.	hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749	.	.	ENSP00000354497	.	2/15	.	.	.	.	.	.	.	.	rs770245769	2/15	PASS	ENST00000362065	Transcript	1	.	ENSG00000198690	29170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	FAN1_HUMAN	FAN1	HGNC	.	.	UPI000006D713	SNV	FAN1,missense_variant,p.Pro127His,ENST00000561607,;FAN1,missense_variant,p.Pro127His,ENST00000362065,;FAN1,missense_variant,p.Pro127His,ENST00000561594,;FAN1,missense_variant,p.Pro127His,ENST00000565466,;FAN1,intron_variant,,ENST00000562892,;FAN1,missense_variant,p.Pro127His,ENST00000565280,;RP11-540B6.3,downstream_gene_variant,,ENST00000565492,;	671	105	114	SUCCESS
C15orf39	56905	.	GRCh37	15	75501057	75501057	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	23	0	ENST00000360639.2:c.2668C>T	p.Pro890Ser	p.P890S	ENST00000360639		890	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10276.1	2668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCCAGGC	NONE	.	.	.	.	.	ENSP00000353854	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000360639	Transcript	.	.	ENSG00000167173	24497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.05)	.	CO039_HUMAN	C15orf39	HGNC	H3BT66_HUMAN,H3BRS2_HUMAN,H3BN41_HUMAN	.	UPI000004F079	SNV	C15orf39,missense_variant,p.Pro890Ser,ENST00000360639,;C15orf39,missense_variant,p.Pro890Ser,ENST00000394987,;C15orf39,missense_variant,p.Pro890Ser,ENST00000567617,;C15orf39,missense_variant,p.Pro759Ser,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;C15orf39,downstream_gene_variant,,ENST00000563905,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	2988	23	39	SUCCESS
ZNF592	9640	.	GRCh37	15	85326095	85326095	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	72	0	ENST00000299927.3:c.189G>T	p.Val63=	p.V63=	ENST00000299927		63	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32317.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTGCCGGC	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199	.	.	ENSP00000299927	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000299927	Transcript	1	.	ENSG00000166716	28986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN592_HUMAN	ZNF592	HGNC	.	.	UPI000013E5FC	SNV	ZNF592,synonymous_variant,p.%3D,ENST00000299927,;ZNF592,synonymous_variant,p.%3D,ENST00000560079,;ZNF592,synonymous_variant,p.%3D,ENST00000559607,;	211	72	78	SUCCESS
PKD1	5310	.	GRCh37	16	2141435	2141435	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	47	0	ENST00000262304.4:c.11701C>T	p.Leu3901=	p.L3901=	ENST00000262304	NM_001009944.2	3901	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32369.1	11701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGAGGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Pfam_domain:PF08016,Prints_domain:PR00500	.	.	ENSP00000262304	.	42/46	.	.	.	.	.	.	.	.	.	42/46	PASS	ENST00000262304	Transcript	.	.	ENSG00000008710	9008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,synonymous_variant,p.%3D,ENST00000262304,;PKD1,synonymous_variant,p.%3D,ENST00000423118,;TSC2,downstream_gene_variant,,ENST00000439673,;TSC2,downstream_gene_variant,,ENST00000219476,;TSC2,downstream_gene_variant,,ENST00000568454,;TSC2,downstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000401874,;TSC2,downstream_gene_variant,,ENST00000353929,;TSC2,downstream_gene_variant,,ENST00000350773,;TSC2,downstream_gene_variant,,ENST00000382538,;MIR1225,upstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.3,downstream_gene_variant,,ENST00000565937,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;PKD1,3_prime_UTR_variant,,ENST00000561668,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,non_coding_transcript_exon_variant,,ENST00000485120,;PKD1,intron_variant,,ENST00000564313,;PKD1,downstream_gene_variant,,ENST00000568796,;TSC2,downstream_gene_variant,,ENST00000569930,;PKD1,downstream_gene_variant,,ENST00000567355,;TSC2,downstream_gene_variant,,ENST00000497886,;PKD1,upstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000562425,;TSC2,downstream_gene_variant,,ENST00000439117,;PKD1,downstream_gene_variant,,ENST00000472659,;	11910	47	17	SUCCESS
IGHV3OR16-9	28307	.	GRCh37	16	32077462	32077462	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1334000314	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	183	0	ENST00000354689.6:c.77G>A	p.Gly26Glu	p.G26E	ENST00000354689		26	gGa/gAa	0	.	.	.	.	.	A	G/E	IG_V_gene	YES	.	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGATTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF80,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000474363	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354689	Transcript	.	.	ENSG00000270472	5644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious_low_confidence(0.02)	.	.	IGHV3OR16-9	HGNC	.	.	UPI000011640D	SNV	IGHV3OR16-9,missense_variant,p.Gly26Glu,ENST00000354689,;RP11-1166P10.6,intron_variant,,ENST00000566806,;	77	183	127	SUCCESS
AXIN1	8312	.	GRCh37	16	396147	396147	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	17	44	0	ENST00000262320.3:c.878+1G>C		p.X293_splice	ENST00000262320	NM_003502.3	293		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10405.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACCTGAA	NONE	.	.	.	.	.	ENSP00000262320	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,splice_donor_variant,,ENST00000262320,;AXIN1,splice_donor_variant,,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,splice_donor_variant,,ENST00000461023,;	.	44	18	SUCCESS
CCDC79	0	.	GRCh37	16	66811151	66811151	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	61	0	ENST00000433154.1:c.940A>C	p.Lys314Gln	p.K314Q	ENST00000433154	NM_001136505.1	314	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	.	940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTTTTCTC	NONE	.	.	hmmpanther:PTHR14014,hmmpanther:PTHR14014:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000463762	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000433154	Transcript	.	.	ENSG00000249961	26675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.468)	.	tolerated(0.1)	.	CCD79_HUMAN	CCDC79	HGNC	J3KSG9_HUMAN	.	UPI000166287A	SNV	CCDC79,missense_variant,p.Lys314Gln,ENST00000433574,;CCDC79,missense_variant,p.Lys314Gln,ENST00000415744,;CCDC79,missense_variant,p.Lys314Gln,ENST00000558713,;CCDC79,missense_variant,p.Lys314Gln,ENST00000432602,;CCDC79,missense_variant,p.Lys314Gln,ENST00000433154,;CCDC79,non_coding_transcript_exon_variant,,ENST00000561333,;CCDC79,missense_variant,p.Lys314Gln,ENST00000313294,;	1202	61	27	SUCCESS
C16orf86	388284	.	GRCh37	16	67702330	67702330	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	22	48	0	ENST00000403458.4:c.781C>T	p.His261Tyr	p.H261Y	ENST00000403458	NM_001012984.2	261	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS32468.2	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCATGCC	NONE	.	.	.	.	.	ENSP00000384117	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000403458	Transcript	.	.	ENSG00000159761	33755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.291)	.	tolerated(0.17)	.	CP086_HUMAN	C16orf86	HGNC	.	.	UPI00001982F7	SNV	C16orf86,missense_variant,p.His261Tyr,ENST00000403458,;ENKD1,upstream_gene_variant,,ENST00000243878,;ENKD1,upstream_gene_variant,,ENST00000602644,;C16orf86,downstream_gene_variant,,ENST00000602365,;ENKD1,upstream_gene_variant,,ENST00000602409,;C16orf86,downstream_gene_variant,,ENST00000602974,;C16orf86,3_prime_UTR_variant,,ENST00000445068,;C16orf86,non_coding_transcript_exon_variant,,ENST00000459925,;ENKD1,upstream_gene_variant,,ENST00000602415,;ENKD1,upstream_gene_variant,,ENST00000602942,;C16orf86,downstream_gene_variant,,ENST00000602987,;ENKD1,upstream_gene_variant,,ENST00000602642,;ENKD1,upstream_gene_variant,,ENST00000602531,;	936	48	33	SUCCESS
STUB1	10273	.	GRCh37	16	731813	731813	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145094142	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	64	143	0	ENST00000219548.4:c.545G>A	p.Arg182Gln	p.R182Q	ENST00000219548	NM_005861.2	182	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10419.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGAAACC	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF305,Gene3D:1.25.40.10	.	A:0.0001	ENSP00000219548	.	4/7	.	.	.	.	.	.	.	.	rs145094142	4/7	PASS	ENST00000219548	Transcript	.	.	ENSG00000103266	11427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.56)	.	CHIP_HUMAN	STUB1	HGNC	.	.	UPI000006E1B4	SNV	STUB1,missense_variant,p.Arg110Gln,ENST00000565677,;STUB1,missense_variant,p.Arg163Gln,ENST00000567173,;STUB1,missense_variant,p.Arg182Gln,ENST00000219548,;STUB1,missense_variant,p.Arg49Gln,ENST00000564316,;STUB1,missense_variant,p.Arg110Gln,ENST00000564370,;STUB1,missense_variant,p.Arg88Gln,ENST00000566408,;JMJD8,3_prime_UTR_variant,,ENST00000609261,;JMJD8,3_prime_UTR_variant,,ENST00000454700,;JMJD8,3_prime_UTR_variant,,ENST00000293882,;JMJD8,3_prime_UTR_variant,,ENST00000412368,;JMJD8,downstream_gene_variant,,ENST00000562111,;JMJD8,downstream_gene_variant,,ENST00000562824,;RHBDL1,downstream_gene_variant,,ENST00000352681,;RHBDL1,downstream_gene_variant,,ENST00000561556,;WDR24,downstream_gene_variant,,ENST00000293883,;RHBDL1,downstream_gene_variant,,ENST00000219551,;WDR24,downstream_gene_variant,,ENST00000248142,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,non_coding_transcript_exon_variant,,ENST00000566181,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;STUB1,non_coding_transcript_exon_variant,,ENST00000569248,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;STUB1,non_coding_transcript_exon_variant,,ENST00000563505,;STUB1,upstream_gene_variant,,ENST00000565813,;JMJD8,downstream_gene_variant,,ENST00000565258,;JMJD8,downstream_gene_variant,,ENST00000569396,;JMJD8,downstream_gene_variant,,ENST00000563088,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000566199,;JMJD8,downstream_gene_variant,,ENST00000568313,;JMJD8,downstream_gene_variant,,ENST00000570037,;WDR24,downstream_gene_variant,,ENST00000567014,;STUB1,downstream_gene_variant,,ENST00000567790,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000564436,;JMJD8,downstream_gene_variant,,ENST00000567901,;	795	143	86	SUCCESS
TAOK1	57551	.	GRCh37	17	27778638	27778638	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	28	0	ENST00000261716.3:c.72A>C	p.Pro24=	p.P24=	ENST00000261716	NM_020791.2	24	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS32601.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCAGAGAA	NONE	.	.	hmmpanther:PTHR24361:SF189,hmmpanther:PTHR24361,Gene3D:3.30.200.20	.	.	ENSP00000261716	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000261716	Transcript	.	.	ENSG00000160551	29259	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAOK1_HUMAN	TAOK1	HGNC	J3QS76_HUMAN	.	UPI000004A033	SNV	TAOK1,synonymous_variant,p.%3D,ENST00000261716,;TAOK1,synonymous_variant,p.%3D,ENST00000536202,;TAOK1,synonymous_variant,p.%3D,ENST00000583121,;TAOK1,non_coding_transcript_exon_variant,,ENST00000587277,;	591	28	46	SUCCESS
EFCAB5	374786	.	GRCh37	17	28380584	28380584	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1442815981	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	56	94	0	ENST00000394835.3:c.1612C>G	p.Leu538Val	p.L538V	ENST00000394835	NM_198529.3	538	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11254.2	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACTGTAC	NONE	.	.	hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF3	.	.	ENSP00000378312	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000394835	Transcript	.	.	ENSG00000176927	24801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.25)	.	EFCB5_HUMAN	EFCAB5	HGNC	C9J1E6_HUMAN	.	UPI0000E59EF5	SNV	EFCAB5,missense_variant,p.Leu344Val,ENST00000419434,;EFCAB5,missense_variant,p.Leu538Val,ENST00000320856,;EFCAB5,missense_variant,p.Leu482Val,ENST00000536908,;EFCAB5,missense_variant,p.Leu538Val,ENST00000378738,;EFCAB5,missense_variant,p.Leu538Val,ENST00000394832,;EFCAB5,missense_variant,p.Leu337Val,ENST00000588978,;EFCAB5,missense_variant,p.Leu195Val,ENST00000541045,;EFCAB5,missense_variant,p.Leu538Val,ENST00000394835,;EFCAB5,downstream_gene_variant,,ENST00000584826,;EFCAB5,missense_variant,p.Leu538Val,ENST00000440741,;EFCAB5,3_prime_UTR_variant,,ENST00000423598,;EFCAB5,upstream_gene_variant,,ENST00000581617,;	1804	94	141	SUCCESS
ATP6V0A1	535	.	GRCh37	17	40620078	40620078	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	110	261	0	ENST00000343619.4:c.247G>C	p.Gly83Arg	p.G83R	ENST00000343619	NM_001130021.1	83	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS45683.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGGTGAA	NONE	.	.	hmmpanther:PTHR11629:SF25,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000264649	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000264649	Transcript	.	.	ENSG00000033627	865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.17)	.	VPP1_HUMAN	ATP6V0A1	HGNC	K7EM24_HUMAN,K7ELZ6_HUMAN	.	UPI0000E59F9E	SNV	ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000589213,;ATP6V0A1,missense_variant,p.Gly9Arg,ENST00000592324,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000585525,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000393829,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000343619,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000546249,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000537728,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000587824,;ATP6V0A1,missense_variant,p.Gly83Arg,ENST00000264649,;ATP6V0A1,intron_variant,,ENST00000589727,;ATP6V0A1,intron_variant,,ENST00000544137,;ATP6V0A1,non_coding_transcript_exon_variant,,ENST00000588629,;ATP6V0A1,intron_variant,,ENST00000588901,;ATP6V0A1,upstream_gene_variant,,ENST00000587375,;	378	261	301	SUCCESS
RNF126P1	376412	.	GRCh37	17	55123480	55123480	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	30	0	ENST00000567452.1:n.642C>T		p.*214*	ENST00000567452				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCCACCG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000567452	Transcript	.	.	ENSG00000261192	30340	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNF126P1	HGNC	.	.	.	SNV	RNF126P1,non_coding_transcript_exon_variant,,ENST00000567452,;RNF126P1,non_coding_transcript_exon_variant,,ENST00000569893,;	642	30	31	SUCCESS
KCNH6	81033	.	GRCh37	17	61615955	61615955	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs560791257	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	119	0	ENST00000583023.1:c.1886C>T	p.Ser629Phe	p.S629F	ENST00000583023	NM_030779.3	629	tCc/tTc	0	.	T:0	.	T:0	.	T	S/F	protein_coding	YES	CCDS11638.1	1886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCCACCC	NONE	by1000G	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,Pfam_domain:PF00027,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473,PROSITE_profiles:PS50042	T:0	.	ENSP00000463533	T:0	8/14	.	.	.	.	.	.	.	.	rs560791257,COSM3520755	8/14	PASS	ENST00000583023	Transcript	.	T:0.0002	ENSG00000173826	18862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.811)	T:0.001	deleterious(0)	0,1	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,missense_variant,p.Ser576Phe,ENST00000581784,;KCNH6,missense_variant,p.Ser629Phe,ENST00000583023,;KCNH6,missense_variant,p.Ser576Phe,ENST00000456941,;KCNH6,missense_variant,p.Ser629Phe,ENST00000314672,;KCNH6,downstream_gene_variant,,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	1897	119	127	SUCCESS
BIRC5	332	.	GRCh37	17	76210286	76210286	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs767364276	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	30	0	ENST00000350051.3:c.-112C>A		p.*38*	ENST00000350051	NM_001168.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32752.1	.	RADIA|MUTECT|VARSCANS	.	GAAGGCCGCGG	NONE	byFrequency	.	.	.	.	ENSP00000301633	.	1/5	.	.	.	.	.	.	.	.	rs767364276	1/5	PASS	ENST00000301633	Transcript	.	.	ENSG00000089685	593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BIRC5	HGNC	H3BLT4_HUMAN	.	UPI000013F77A	SNV	BIRC5,5_prime_UTR_variant,,ENST00000301633,;BIRC5,5_prime_UTR_variant,,ENST00000350051,;AC087645.1,downstream_gene_variant,,ENST00000600484,;BIRC5,upstream_gene_variant,,ENST00000592734,;BIRC5,upstream_gene_variant,,ENST00000587746,;BIRC5,upstream_gene_variant,,ENST00000374948,;BIRC5,upstream_gene_variant,,ENST00000590449,;BIRC5,upstream_gene_variant,,ENST00000589892,;BIRC5,upstream_gene_variant,,ENST00000592115,;BIRC5,upstream_gene_variant,,ENST00000586192,;BIRC5,upstream_gene_variant,,ENST00000590925,;BIRC5,upstream_gene_variant,,ENST00000591800,;RP11-219G17.6,upstream_gene_variant,,ENST00000588528,;	20	31	32	SUCCESS
DNAH2	146754	.	GRCh37	17	7722313	7722313	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	43	0	ENST00000389173.2:c.10747G>A	p.Ala3583Thr	p.A3583T	ENST00000389173	NM_020877.2	3583	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32551.1	10747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGCCACA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12781	.	.	ENSP00000458355	.	71/86	.	.	.	.	.	.	.	.	.	71/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.731)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Ala3583Thr,ENST00000389173,;DNAH2,missense_variant,p.Ala3583Thr,ENST00000572933,;DNAH2,missense_variant,p.Ala532Thr,ENST00000575105,;	12207	43	48	SUCCESS
SLC38A10	124565	.	GRCh37	17	79254478	79254478	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs748292732	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	32	17	ENST00000374759.3:c.557T>G	p.Val186Gly	p.V186G	ENST00000374759	NM_001037984.1	186	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS42397.1	557	MUTECT|MUSE	.	AGCTGACCCGC	NONE	byFrequency	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF199,Pfam_domain:PF01490	.	.	ENSP00000363891	.	6/16	.	.	.	.	.	.	.	.	rs748292732,COSM4130807,COSM4130806	6/16	PASS	ENST00000374759	Transcript	.	.	ENSG00000157637	28237	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.119)	.	deleterious(0.01)	0,1,1	S38AA_HUMAN	SLC38A10	HGNC	F5H3T4_HUMAN	.	UPI000066DA6A	SNV	SLC38A10,missense_variant,p.Val186Gly,ENST00000374759,;SLC38A10,missense_variant,p.Val45Gly,ENST00000543204,;SLC38A10,missense_variant,p.Val186Gly,ENST00000288439,;SLC38A10,downstream_gene_variant,,ENST00000539748,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000546352,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000542075,;	941	49	52	SUCCESS
NETO1	81832	.	GRCh37	18	70417298	70417298	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs778182466	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	23	0	ENST00000327305.6:c.1540C>T	p.Arg514Trp	p.R514W	ENST00000327305	NM_138966.3	514	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12000.1	1540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCGCTGGA	NONE	.	.	.	.	.	ENSP00000313088	.	9/11	.	.	.	.	.	.	.	.	rs778182466,COSM2150412	9/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	.	deleterious_low_confidence(0)	0,1	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,missense_variant,p.Arg514Trp,ENST00000327305,;NETO1,missense_variant,p.Arg514Trp,ENST00000583169,;NETO1,missense_variant,p.Arg513Trp,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;	2198	23	25	SUCCESS
CTDP1	9150	.	GRCh37	18	77474841	77474841	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	41	107	0	ENST00000299543.7:c.1381A>T	p.Ser461Cys	p.S461C	ENST00000299543	NM_001202504.1	461	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12017.1	1381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCAGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23081:SF0,hmmpanther:PTHR23081	.	.	ENSP00000299543	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000299543	Transcript	.	.	ENSG00000060069	2498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0.01)	.	CTDP1_HUMAN	CTDP1	HGNC	K7EPW4_HUMAN	.	UPI000013C57B	SNV	CTDP1,missense_variant,p.Ser393Cys,ENST00000591598,;CTDP1,missense_variant,p.Ser461Cys,ENST00000075430,;CTDP1,missense_variant,p.Ser461Cys,ENST00000299543,;	1528	107	118	SUCCESS
EPOR	2057	.	GRCh37	19	11491864	11491864	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	94	0	ENST00000222139.6:c.607A>T	p.Thr203Ser	p.T203S	ENST00000222139	NM_000121.3	203	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS12260.1	607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGTGCGGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23037:SF7,hmmpanther:PTHR23037,PROSITE_patterns:PS01352,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF001959,Superfamily_domains:SSF49265	.	.	ENSP00000222139	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000222139	Transcript	1	.	ENSG00000187266	3416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.11)	.	EPOR_HUMAN	EPOR	HGNC	I6R7G3_HUMAN	.	UPI000012A0AD	SNV	EPOR,missense_variant,p.Thr203Ser,ENST00000592375,;EPOR,missense_variant,p.Thr203Ser,ENST00000222139,;SWSAP1,downstream_gene_variant,,ENST00000312423,;EPOR,synonymous_variant,p.%3D,ENST00000591958,;EPOR,3_prime_UTR_variant,,ENST00000586890,;EPOR,3_prime_UTR_variant,,ENST00000588859,;EPOR,non_coding_transcript_exon_variant,,ENST00000588681,;EPOR,non_coding_transcript_exon_variant,,ENST00000590927,;EPOR,non_coding_transcript_exon_variant,,ENST00000589402,;RGL3,downstream_gene_variant,,ENST00000563726,;RGL3,downstream_gene_variant,,ENST00000562663,;	712	94	98	SUCCESS
ISYNA1	51477	.	GRCh37	19	18547823	18547824	+	frameshift_variant	Frame_Shift_Del	DEL	CG	CG	-	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	CG	CG	.	.	.	.	.	.	.	.	.	.	.	.	.	105	46	98	0	ENST00000338128.8:c.374_375del	p.Ala125GlyfsTer92	p.A125Gfs*92	ENST00000338128	NM_001170938.1	125	gCG/g	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS12379.1	374-375	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCACCGCGCTG	NONE	.	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF015578,Gene3D:3.40.50.720,Pfam_domain:PF07994,hmmpanther:PTHR11510:SF5,hmmpanther:PTHR11510	.	.	ENSP00000337746	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000338128	Transcript	.	.	ENSG00000105655	29821	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INO1_HUMAN	ISYNA1	HGNC	U3KPZ1_HUMAN,J3QRY0_HUMAN,G3V1R9_HUMAN	.	UPI00000424BB	deletion	ISYNA1,frameshift_variant,p.Ala125GlyfsTer92,ENST00000338128,;ISYNA1,frameshift_variant,p.Ala158GlyfsTer?,ENST00000581800,;ISYNA1,frameshift_variant,p.Ala71GlyfsTer92,ENST00000457269,;ISYNA1,frameshift_variant,p.Ala125GlyfsTer?,ENST00000583534,;ISYNA1,5_prime_UTR_variant,,ENST00000578963,;ISYNA1,5_prime_UTR_variant,,ENST00000317018,;ISYNA1,intron_variant,,ENST00000578352,;ISYNA1,intron_variant,,ENST00000545187,;SSBP4,downstream_gene_variant,,ENST00000348495,;SSBP4,downstream_gene_variant,,ENST00000597724,;SSBP4,downstream_gene_variant,,ENST00000593641,;SSBP4,downstream_gene_variant,,ENST00000599699,;ISYNA1,upstream_gene_variant,,ENST00000581672,;SSBP4,downstream_gene_variant,,ENST00000270061,;SSBP4,downstream_gene_variant,,ENST00000602088,;CTD-3137H5.1,upstream_gene_variant,,ENST00000594590,;SSBP4,downstream_gene_variant,,ENST00000598159,;ISYNA1,frameshift_variant,p.Ala125GlyfsTer35,ENST00000582770,;ISYNA1,non_coding_transcript_exon_variant,,ENST00000577916,;ISYNA1,intron_variant,,ENST00000577820,;ISYNA1,intron_variant,,ENST00000582811,;SSBP4,downstream_gene_variant,,ENST00000607020,;SSBP4,downstream_gene_variant,,ENST00000601444,;ISYNA1,upstream_gene_variant,,ENST00000583309,;SSBP4,downstream_gene_variant,,ENST00000600244,;SSBP4,downstream_gene_variant,,ENST00000601919,;ISYNA1,upstream_gene_variant,,ENST00000583816,;ISYNA1,upstream_gene_variant,,ENST00000582287,;	592-593	98	151	SUCCESS
TIMM50	92609	.	GRCh37	19	39972548	39972548	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	50	0	ENST00000607714.1:c.134G>A	p.Ser45Asn	p.S45N	ENST00000607714		45	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS33023.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGCACTA	NONE	.	.	hmmpanther:PTHR12210:SF3,hmmpanther:PTHR12210	.	.	ENSP00000318115	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000314349	Transcript	.	.	ENSG00000105197	23656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.31)	.	TIM50_HUMAN	TIMM50	HGNC	.	.	UPI0000161278	SNV	TIMM50,missense_variant,p.Ser45Asn,ENST00000607714,;TIMM50,missense_variant,p.Ser40Asn,ENST00000594583,;TIMM50,missense_variant,p.Ser148Asn,ENST00000314349,;TIMM50,missense_variant,p.Ser45Asn,ENST00000602028,;TIMM50,missense_variant,p.Ser45Asn,ENST00000601403,;TIMM50,5_prime_UTR_variant,,ENST00000544017,;TIMM50,intron_variant,,ENST00000597666,;TIMM50,intron_variant,,ENST00000599794,;TIMM50,missense_variant,p.Ser45Asn,ENST00000601358,;TIMM50,missense_variant,p.Ser21Asn,ENST00000599733,;TIMM50,missense_variant,p.Ser21Asn,ENST00000602265,;TIMM50,missense_variant,p.Ser36Asn,ENST00000597782,;TIMM50,non_coding_transcript_exon_variant,,ENST00000598125,;TIMM50,non_coding_transcript_exon_variant,,ENST00000595286,;TIMM50,upstream_gene_variant,,ENST00000595961,;TIMM50,upstream_gene_variant,,ENST00000596239,;	576	50	46	SUCCESS
PSG1	5669	.	GRCh37	19	43382260	43382260	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	65	0	ENST00000436291.2:c.235A>T	p.Ile79Phe	p.I79F	ENST00000436291	NM_001184826.1	79	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS12612.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAATGTAAT	NONE	.	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF114,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000244296	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000244296	Transcript	.	.	ENSG00000231924	9514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	PSG1_HUMAN	PSG1	HGNC	Q9UMI0_HUMAN,M0QY44_HUMAN	.	UPI0000001071	SNV	PSG1,missense_variant,p.Ile79Phe,ENST00000244296,;PSG1,missense_variant,p.Ile79Phe,ENST00000595356,;PSG1,missense_variant,p.Ile79Phe,ENST00000312439,;PSG1,missense_variant,p.Ile79Phe,ENST00000436291,;PSG1,missense_variant,p.Ile79Phe,ENST00000595124,;PSG1,missense_variant,p.Ile8Phe,ENST00000595930,;PSG1,missense_variant,p.Ile79Phe,ENST00000403380,;PSG1,upstream_gene_variant,,ENST00000597058,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;	373	65	77	SUCCESS
FBN3	84467	.	GRCh37	19	8160952	8160952	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	68	0	ENST00000270509.2:c.5552G>C	p.Cys1851Ser	p.C1851S	ENST00000270509	NM_032447.3	1851	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS12196.1	5552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACACTCG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	45/64	.	.	.	.	.	.	.	.	.	45/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Cys1851Ser,ENST00000600128,;FBN3,missense_variant,p.Cys1851Ser,ENST00000601739,;FBN3,missense_variant,p.Cys1851Ser,ENST00000270509,;FBN3,missense_variant,p.Cys112Ser,ENST00000602121,;	5967	68	99	SUCCESS
SELENBP1	8991	.	GRCh37	1	151337513	151337513	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs544356174	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	69	0	ENST00000368868.5:c.1145G>A	p.Arg382Gln	p.R382Q	ENST00000368868	NM_003944.3	382	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS995.1	1145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCGTTTT	NONE	by1000G	.	hmmpanther:PTHR23300,Pfam_domain:PF05694,Gene3D:2.130.10.10	T:0.001	.	ENSP00000357861	T:0	11/12	.	.	.	.	.	.	.	.	rs544356174,COSM3473664	11/12	PASS	ENST00000368868	Transcript	.	T:0.0002	ENSG00000143416	10719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.02)	T:0	tolerated(0.06)	0,1	SBP1_HUMAN	SELENBP1	HGNC	C9JVL0_HUMAN	.	UPI000007300D	SNV	SELENBP1,missense_variant,p.Arg382Gln,ENST00000368868,;SELENBP1,missense_variant,p.Arg318Gln,ENST00000435071,;SELENBP1,missense_variant,p.Arg320Gln,ENST00000447402,;SELENBP1,missense_variant,p.Arg424Gln,ENST00000426705,;SELENBP1,downstream_gene_variant,,ENST00000427867,;SELENBP1,downstream_gene_variant,,ENST00000424475,;SELENBP1,downstream_gene_variant,,ENST00000458566,;SELENBP1,downstream_gene_variant,,ENST00000473693,;SELENBP1,downstream_gene_variant,,ENST00000498494,;SELENBP1,3_prime_UTR_variant,,ENST00000455397,;SELENBP1,3_prime_UTR_variant,,ENST00000423070,;SELENBP1,3_prime_UTR_variant,,ENST00000443708,;SELENBP1,3_prime_UTR_variant,,ENST00000427977,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000470345,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000474352,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000493560,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000463664,;SELENBP1,downstream_gene_variant,,ENST00000492643,;SELENBP1,downstream_gene_variant,,ENST00000465273,;SELENBP1,downstream_gene_variant,,ENST00000455839,;	1237	69	95	SUCCESS
SPTA1	6708	.	GRCh37	1	158648224	158648224	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121918634	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	52	0	ENST00000368147.4:c.779T>C	p.Leu260Pro	p.L260P	ENST00000368147	NM_003126.2	260	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41423.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TGGACAGAGCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	6/52	.	.	.	.	.	.	.	.	CM890108,rs121918634	6/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Leu260Pro,ENST00000368147,;SPTA1,missense_variant,p.Leu78Pro,ENST00000467387,;	960	52	101	SUCCESS
SPEN	23013	.	GRCh37	1	16263693	16263693	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	69	0	ENST00000375759.3:c.10062T>G	p.Pro3354=	p.P3354=	ENST00000375759	NM_015001.2	3354	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS164.1	10062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,synonymous_variant,p.%3D,ENST00000375759,;ZBTB17,downstream_gene_variant,,ENST00000375733,;ZBTB17,downstream_gene_variant,,ENST00000375743,;ZBTB17,downstream_gene_variant,,ENST00000537142,;ZBTB17,downstream_gene_variant,,ENST00000440560,;ZBTB17,downstream_gene_variant,,ENST00000462525,;SPEN,upstream_gene_variant,,ENST00000487496,;	10266	69	37	SUCCESS
ESPNP	284729	.	GRCh37	1	17026483	17026483	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	69	452	0	ENST00000270691.4:n.1203G>A		p.*401*	ENST00000270691				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCCGTAG	NONE	.	.	.	.	.	.	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000270691	Transcript	.	.	ENSG00000268869	23285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ESPNP	HGNC	.	.	.	SNV	ESPNP,non_coding_transcript_exon_variant,,ENST00000492551,;ESPNP,non_coding_transcript_exon_variant,,ENST00000270691,;	1203	452	292	SUCCESS
DNM3	26052	.	GRCh37	1	172356496	172356496	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779486284	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	40	73	0	ENST00000355305.5:c.2300G>T	p.Arg767Leu	p.R767L	ENST00000355305		767	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS53431.1	2282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGCAGGT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000350876	.	19/21	.	.	.	.	.	.	.	.	rs779486284	19/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.47)	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Arg757Leu,ENST00000367731,;DNM3,missense_variant,p.Arg767Leu,ENST00000355305,;DNM3,missense_variant,p.Arg761Leu,ENST00000358155,;DNM3,missense_variant,p.Arg130Leu,ENST00000485254,;PIGC,intron_variant,,ENST00000489002,;PIGC,intron_variant,,ENST00000475059,;DNM3,non_coding_transcript_exon_variant,,ENST00000491124,;	2458	73	139	SUCCESS
NFASC	23114	.	GRCh37	1	204913476	204913476	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs750101194	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	42	58	0	ENST00000339876.6:c.33T>G	p.His11Gln	p.H11Q	ENST00000339876	NM_001005388.2	11	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS53460.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATGCAGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000344786	.	3/30	.	.	.	.	.	.	.	.	rs750101194	3/30	PASS	ENST00000339876	Transcript	.	.	ENSG00000163531	29866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.17)	.	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,missense_variant,p.His11Gln,ENST00000404076,;NFASC,missense_variant,p.His11Gln,ENST00000403080,;NFASC,missense_variant,p.His11Gln,ENST00000367170,;NFASC,missense_variant,p.His11Gln,ENST00000446412,;NFASC,missense_variant,p.His11Gln,ENST00000338515,;NFASC,missense_variant,p.His11Gln,ENST00000505079,;NFASC,missense_variant,p.His11Gln,ENST00000360049,;NFASC,missense_variant,p.His11Gln,ENST00000401399,;NFASC,missense_variant,p.His11Gln,ENST00000404907,;NFASC,missense_variant,p.His11Gln,ENST00000367171,;NFASC,missense_variant,p.His11Gln,ENST00000539706,;NFASC,missense_variant,p.His11Gln,ENST00000339876,;NFASC,missense_variant,p.His11Gln,ENST00000513543,;NFASC,missense_variant,p.His11Gln,ENST00000367169,;NFASC,missense_variant,p.His11Gln,ENST00000367172,;NFASC,missense_variant,p.His11Gln,ENST00000338586,;NFASC,upstream_gene_variant,,ENST00000430393,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,non_coding_transcript_exon_variant,,ENST00000493914,;NFASC,missense_variant,p.His11Gln,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;RP11-494K3.2,upstream_gene_variant,,ENST00000452580,;	361	58	72	SUCCESS
CNIH4	29097	.	GRCh37	1	224559054	224559054	+	synonymous_variant	Silent	SNP	G	G	A	rs143487399	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	44	97	0	ENST00000465271.1:c.321G>A	p.Leu107=	p.L107=	ENST00000465271	NM_014184.3	107	ctG/ctA	0	C:0.0002	.	.	.	.	A	L	protein_coding	YES	CCDS1543.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGAAGTC	NONE	byCluster	.	Pfam_domain:PF03311,hmmpanther:PTHR12290:SF14,hmmpanther:PTHR12290	.	C:0	ENSP00000420443	.	4/5	.	.	.	.	.	.	.	.	rs143487399	4/5	PASS	ENST00000465271	Transcript	.	.	ENSG00000143771	25013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNIH4_HUMAN	CNIH4	HGNC	.	.	UPI000012BF0E	SNV	CNIH4,synonymous_variant,p.%3D,ENST00000465271,;CNIH4,synonymous_variant,p.%3D,ENST00000366856,;CNIH4,intron_variant,,ENST00000366857,;CNIH4,intron_variant,,ENST00000366858,;CNIH4,non_coding_transcript_exon_variant,,ENST00000468318,;CNIH4,non_coding_transcript_exon_variant,,ENST00000366860,;CNIH4,downstream_gene_variant,,ENST00000477413,;	396	97	160	SUCCESS
RYR2	6262	.	GRCh37	1	237947690	237947690	+	synonymous_variant	Silent	SNP	G	G	A	rs768348987	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	93	92	0	ENST00000366574.2:c.12678G>A	p.Pro4226=	p.P4226=	ENST00000366574	NM_001035.2	4226	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS55691.1	12678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGGAAGA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	rs768348987,COSM288910,COSM3664988	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	12995	92	170	SUCCESS
OR2T6	254879	.	GRCh37	1	248551472	248551472	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	88	99	1	ENST00000355728.2:c.563C>T	p.Ala188Val	p.A188V	ENST00000355728	NM_001005471.1	188	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31114.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCCTGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	COSM3356558	1/1	PASS	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.26)	.	tolerated(0.05)	1	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,missense_variant,p.Ala188Val,ENST00000355728,;	563	100	156	SUCCESS
MAST2	23139	.	GRCh37	1	46499912	46499912	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368958391	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	29	64	0	ENST00000361297.2:c.3842G>A	p.Arg1281Gln	p.R1281Q	ENST00000361297	NM_015112.2	1281	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS41326.1	3842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCGGGTGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356	.	A:0.0001	ENSP00000354671	.	28/29	.	.	.	.	.	.	.	.	rs368958391	28/29	PASS	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,missense_variant,p.Arg1281Gln,ENST00000361297,;MAST2,missense_variant,p.Arg1188Gln,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,non_coding_transcript_exon_variant,,ENST00000492813,;MAST2,downstream_gene_variant,,ENST00000477968,;	4125	64	42	SUCCESS
ASXL1	171023	.	GRCh37	20	31021697	31021697	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs780823171	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	86	0	ENST00000375687.4:c.1696G>T	p.Glu566Ter	p.E566*	ENST00000375687	NM_015338.5	566	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13201.1	1696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGAGCCC	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	12/13	.	.	.	.	.	.	.	.	rs780823171	12/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,stop_gained,p.Glu566Ter,ENST00000375687,;ASXL1,stop_gained,p.Glu561Ter,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000470145,;ASXL1,downstream_gene_variant,,ENST00000555564,;	2120	86	83	SUCCESS
FAM65C	0	.	GRCh37	20	49232571	49232571	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147229572	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	56	0	ENST00000327979.2:c.304C>T	p.Arg102Cys	p.R102C	ENST00000327979		102	Cgc/Tgc	0	A:0.0009	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS13431.2	304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGTCCAG	SITE|p.R102C|c.304C>T|6	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	A:0	A:0	ENSP00000332663	A:0	4/22	.	.	.	.	.	.	.	.	rs147229572,COSM190296	4/22	PASS	ENST00000327979	Transcript	.	A:0.0004	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	A:0.002	tolerated(0.08)	0,1	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Arg102Cys,ENST00000327979,;FAM65C,missense_variant,p.Arg106Cys,ENST00000535356,;FAM65C,missense_variant,p.Arg102Cys,ENST00000045083,;MIR1302-5,upstream_gene_variant,,ENST00000408164,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;RPL36P2,upstream_gene_variant,,ENST00000426026,;	716	56	47	SUCCESS
BAZ2B	29994	.	GRCh37	2	160289825	160289825	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs757918059	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	62	0	ENST00000392783.2:c.1343C>G	p.Ser448Trp	p.S448W	ENST00000392783	NM_013450.2	448	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS2209.2	1343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGATGAC	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,Low_complexity_(Seg):seg	.	.	ENSP00000376534	.	9/37	.	.	.	.	.	.	.	.	rs757918059	9/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Ser448Trp,ENST00000355831,;BAZ2B,missense_variant,p.Ser446Trp,ENST00000392782,;BAZ2B,missense_variant,p.Ser446Trp,ENST00000343439,;BAZ2B,missense_variant,p.Ser448Trp,ENST00000392783,;BAZ2B,upstream_gene_variant,,ENST00000441143,;BAZ2B,downstream_gene_variant,,ENST00000482503,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000472953,;BAZ2B,downstream_gene_variant,,ENST00000467184,;	1839	62	52	SUCCESS
LRP2	4036	.	GRCh37	2	170058284	170058284	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	42	0	ENST00000263816.3:c.8306G>C	p.Gly2769Ala	p.G2769A	ENST00000263816	NM_004525.2	2769	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS2232.1	8306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCCATCA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	44/79	.	.	.	.	.	.	.	.	.	44/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Gly2769Ala,ENST00000263816,;	8592	42	43	SUCCESS
CCDC141	285025	.	GRCh37	2	179718305	179718305	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	49	0	ENST00000420890.2:c.3107G>A	p.Gly1036Glu	p.G1036E	ENST00000420890	NM_173648.3	1036	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	.	3107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCCAACT	NONE	.	.	hmmpanther:PTHR19897	.	.	ENSP00000395995	.	20/24	.	.	.	.	.	.	.	.	COSM1691639,COSM1691640	20/24	PASS	ENST00000420890	Transcript	.	.	ENSG00000163492	26821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.954)	.	deleterious(0)	1,1	.	CCDC141	HGNC	H7C0P1_HUMAN,E7ERF0_HUMAN	.	UPI0000EE2F1C	SNV	CCDC141,missense_variant,p.Gly1036Glu,ENST00000420890,;CCDC141,missense_variant,p.Gly480Glu,ENST00000343876,;CCDC141,missense_variant,p.Gly461Glu,ENST00000295723,;CCDC141,downstream_gene_variant,,ENST00000443758,;	3225	49	94	SUCCESS
UNC80	285175	.	GRCh37	2	210778536	210778536	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	54	117	0	ENST00000439458.1:c.4703T>C	p.Leu1568Ser	p.L1568S	ENST00000439458	NM_032504.1	1568	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS46504.1	4703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTTGTCGC	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	30/64	.	.	.	.	.	.	.	.	.	30/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Leu1568Ser,ENST00000439458,;UNC80,missense_variant,p.Leu1563Ser,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	4783	117	135	SUCCESS
EIF2B4	8890	.	GRCh37	2	27587708	27587708	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759071387	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	7	98	0	ENST00000347454.4:c.1249C>T	p.Arg417Trp	p.R417W	ENST00000347454	NM_015636.3	417	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS46245.1	1309	MUTECT|MUSE	.	TACCCGTGACA	NONE	byFrequency	.	hmmpanther:PTHR10233:SF14,hmmpanther:PTHR10233,Pfam_domain:PF01008,Gene3D:3.40.50.10470,Superfamily_domains:SSF100950	.	.	ENSP00000394869	.	11/12	.	.	.	.	.	.	.	.	rs759071387	11/12	PASS	ENST00000451130	Transcript	.	.	ENSG00000115211	3260	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	EI2BD_HUMAN	EIF2B4	HGNC	.	.	UPI0000366EE5	SNV	EIF2B4,missense_variant,p.Arg416Trp,ENST00000445933,;EIF2B4,missense_variant,p.Arg437Trp,ENST00000451130,;EIF2B4,missense_variant,p.Arg438Trp,ENST00000493344,;EIF2B4,missense_variant,p.Arg417Trp,ENST00000347454,;AC074117.10,intron_variant,,ENST00000412749,;AC074117.10,downstream_gene_variant,,ENST00000447070,;EIF2B4,3_prime_UTR_variant,,ENST00000405940,;EIF2B4,non_coding_transcript_exon_variant,,ENST00000478311,;EIF2B4,downstream_gene_variant,,ENST00000475582,;EIF2B4,downstream_gene_variant,,ENST00000462749,;EIF2B4,downstream_gene_variant,,ENST00000418146,;EIF2B4,downstream_gene_variant,,ENST00000417567,;	1309	98	132	SUCCESS
SLC8A1	6546	.	GRCh37	2	40387905	40387905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	47	0	ENST00000332839.4:c.2269G>T	p.Gly757Trp	p.G757W	ENST00000332839	NM_021097.2	757	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS1806.1	2269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCAGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845	.	.	ENSP00000384763	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Gly749Trp,ENST00000408028,;SLC8A1,missense_variant,p.Gly757Trp,ENST00000403092,;SLC8A1,missense_variant,p.Gly721Trp,ENST00000405269,;SLC8A1,missense_variant,p.Gly752Trp,ENST00000542756,;SLC8A1,missense_variant,p.Gly721Trp,ENST00000402441,;SLC8A1,missense_variant,p.Gly721Trp,ENST00000406785,;SLC8A1,missense_variant,p.Gly721Trp,ENST00000542024,;SLC8A1,missense_variant,p.Gly757Trp,ENST00000332839,;SLC8A1,missense_variant,p.Gly721Trp,ENST00000406391,;SLC8A1,missense_variant,p.Gly752Trp,ENST00000405901,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1,splice_region_variant,,ENST00000407929,;	2303	47	70	SUCCESS
ELMOD3	84173	.	GRCh37	2	85590252	85590252	+	synonymous_variant	Silent	SNP	G	G	A	rs781711502	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	64	0	ENST00000393852.4:c.162G>A	p.Gln54=	p.Q54=	ENST00000393852	NM_001135023.1	54	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS1973.1	162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGGCTCT	NONE	.	.	hmmpanther:PTHR12771:SF2,hmmpanther:PTHR12771	.	.	ENSP00000318264	.	4/11	.	.	.	.	.	.	.	.	rs781711502	4/11	PASS	ENST00000315658	Transcript	.	.	ENSG00000115459	26158	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMD3_HUMAN	ELMOD3	HGNC	E9PI96_HUMAN,D3YTJ5_HUMAN,B8ZZT8_HUMAN	.	UPI0000072463	SNV	ELMOD3,synonymous_variant,p.%3D,ENST00000409344,;ELMOD3,synonymous_variant,p.%3D,ENST00000418268,;ELMOD3,synonymous_variant,p.%3D,ENST00000409013,;ELMOD3,synonymous_variant,p.%3D,ENST00000409890,;ELMOD3,synonymous_variant,p.%3D,ENST00000315658,;ELMOD3,synonymous_variant,p.%3D,ENST00000428955,;ELMOD3,synonymous_variant,p.%3D,ENST00000409331,;ELMOD3,synonymous_variant,p.%3D,ENST00000462891,;ELMOD3,synonymous_variant,p.%3D,ENST00000393852,;Y_RNA,upstream_gene_variant,,ENST00000365512,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000490508,;ELMOD3,intron_variant,,ENST00000476734,;ELMOD3,synonymous_variant,p.%3D,ENST00000446464,;ELMOD3,synonymous_variant,p.%3D,ENST00000410106,;ELMOD3,synonymous_variant,p.%3D,ENST00000414593,;ELMOD3,synonymous_variant,p.%3D,ENST00000444108,;ELMOD3,synonymous_variant,p.%3D,ENST00000423095,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000488150,;ELMOD3,intron_variant,,ENST00000440462,;ELMOD3,intron_variant,,ENST00000429764,;RP11-717A5.1,upstream_gene_variant,,ENST00000605302,;	421	64	67	SUCCESS
ZDHHC23	254887	.	GRCh37	3	113672983	113672983	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs370935137	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	52	133	0	ENST00000330212.3:c.598A>T	p.Ser200Cys	p.S200C	ENST00000330212	NM_173570.3	200	Agc/Tgc	0	G:0	.	.	.	.	T	S/C	protein_coding	YES	CCDS33827.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAAGCGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF17,Pfam_domain:PF01529	.	G:0.0001	ENSP00000330485	.	3/6	.	.	.	.	.	.	.	.	rs370935137	3/6	PASS	ENST00000330212	Transcript	.	.	ENSG00000184307	28654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.06)	.	ZDH23_HUMAN	ZDHHC23	HGNC	C9JPJ8_HUMAN,B3KXV3_HUMAN	.	UPI0000209F9A	SNV	ZDHHC23,missense_variant,p.Ser194Cys,ENST00000498275,;ZDHHC23,missense_variant,p.Ser200Cys,ENST00000330212,;ZDHHC23,upstream_gene_variant,,ENST00000496083,;ZDHHC23,downstream_gene_variant,,ENST00000491556,;ZDHHC23,upstream_gene_variant,,ENST00000488129,;ZDHHC23,missense_variant,p.Ser200Cys,ENST00000478793,;	897	133	153	SUCCESS
HDAC11	79885	.	GRCh37	3	13546008	13546008	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753220024	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	63	0	ENST00000295757.3:c.869G>A	p.Arg290His	p.R290H	ENST00000295757	NM_024827.3	290	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS2615.1	869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGTGGCC	NONE	.	.	Superfamily_domains:SSF52768,Gene3D:3.40.800.20,Pfam_domain:PF00850,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF112	.	.	ENSP00000295757	.	10/10	.	.	.	.	.	.	.	.	rs753220024	10/10	PASS	ENST00000295757	Transcript	.	.	ENSG00000163517	19086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	HDA11_HUMAN	HDAC11	HGNC	Q6IA14_HUMAN,F5H6R5_HUMAN,E7ETT9_HUMAN,C9JMH0_HUMAN,C9JEC8_HUMAN,B5MCV5_HUMAN	.	UPI000012C3A7	SNV	HDAC11,missense_variant,p.Arg239His,ENST00000522202,;HDAC11,missense_variant,p.Arg98His,ENST00000446613,;HDAC11,missense_variant,p.Arg290His,ENST00000295757,;HDAC11,missense_variant,p.Arg262His,ENST00000437379,;HDAC11,missense_variant,p.Arg124His,ENST00000402259,;HDAC11,missense_variant,p.Arg190His,ENST00000404040,;HDAC11,missense_variant,p.Arg211His,ENST00000402271,;HDAC11,3_prime_UTR_variant,,ENST00000405025,;HDAC11,3_prime_UTR_variant,,ENST00000404548,;HDAC11,3_prime_UTR_variant,,ENST00000433119,;HDAC11,downstream_gene_variant,,ENST00000458642,;HDAC11,downstream_gene_variant,,ENST00000434848,;HDAC11,downstream_gene_variant,,ENST00000455904,;HDAC11,downstream_gene_variant,,ENST00000405478,;HDAC11,downstream_gene_variant,,ENST00000495099,;HDAC11,3_prime_UTR_variant,,ENST00000425430,;HDAC11,downstream_gene_variant,,ENST00000487585,;HDAC11,downstream_gene_variant,,ENST00000475818,;HDAC11,downstream_gene_variant,,ENST00000498532,;	1052	63	49	SUCCESS
FXR1	8087	.	GRCh37	3	180666144	180666144	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	73	0	ENST00000357559.4:c.280A>G	p.Ile94Val	p.I94V	ENST00000357559	NM_001013438.2	94	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3238.1	280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCATTGAA	NONE	.	.	PROSITE_profiles:PS51641,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6,Pfam_domain:PF05641	.	.	ENSP00000350170	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000357559	Transcript	.	.	ENSG00000114416	4023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.42)	.	FXR1_HUMAN	FXR1	HGNC	C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN	.	UPI000013EA6E	SNV	FXR1,missense_variant,p.Ile94Val,ENST00000357559,;FXR1,missense_variant,p.Ile45Val,ENST00000491062,;FXR1,missense_variant,p.Ile94Val,ENST00000445140,;FXR1,missense_variant,p.Ile98Val,ENST00000484042,;FXR1,missense_variant,p.Ile81Val,ENST00000480918,;FXR1,missense_variant,p.Ile9Val,ENST00000484958,;FXR1,missense_variant,p.Ile9Val,ENST00000305586,;FXR1,missense_variant,p.Ile9Val,ENST00000468861,;FXR1,missense_variant,p.Ile9Val,ENST00000484790,;FXR1,missense_variant,p.Ile9Val,ENST00000465551,;FXR1,missense_variant,p.Ile9Val,ENST00000469882,;FXR1,non_coding_transcript_exon_variant,,ENST00000475315,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;FXR1,downstream_gene_variant,,ENST00000479176,;FXR1,upstream_gene_variant,,ENST00000473375,;	664	73	92	SUCCESS
DOCK3	1795	.	GRCh37	3	51297607	51297607	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	64	0	ENST00000266037.9:c.2205G>A	p.Lys735=	p.K735=	ENST00000266037	NM_004947.4	735	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS46835.1	2205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGTTCAT	NONE	.	.	hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000266037	.	23/53	.	.	.	.	.	.	.	.	.	23/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,synonymous_variant,p.%3D,ENST00000266037,;	2228	64	82	SUCCESS
THUMPD3	25917	.	GRCh37	3	9412987	9412987	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1413101507	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	72	176	0	ENST00000345094.3:c.574G>A	p.Ala192Thr	p.A192T	ENST00000345094	NM_001114092.1	192	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2573.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGCCATC	NONE	.	.	PROSITE_profiles:PS51165,hmmpanther:PTHR14911:SF12,hmmpanther:PTHR14911,SMART_domains:SM00981,Superfamily_domains:SSF143437	.	.	ENSP00000339532	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000345094	Transcript	.	.	ENSG00000134077	24493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.16)	.	THUM3_HUMAN	THUMPD3	HGNC	C9JP31_HUMAN,C9J9V2_HUMAN	.	UPI000006E64E	SNV	THUMPD3,missense_variant,p.Ala192Thr,ENST00000515662,;THUMPD3,missense_variant,p.Ala192Thr,ENST00000345094,;THUMPD3,missense_variant,p.Ala25Thr,ENST00000416603,;THUMPD3,missense_variant,p.Ala49Thr,ENST00000441127,;THUMPD3,missense_variant,p.Ala192Thr,ENST00000452837,;THUMPD3,downstream_gene_variant,,ENST00000419437,;SETD5-AS1,intron_variant,,ENST00000468186,;THUMPD3,upstream_gene_variant,,ENST00000461636,;	908	176	215	SUCCESS
CAMK1	8536	.	GRCh37	3	9807539	9807539	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	59	0	ENST00000256460.3:c.119A>T	p.Lys40Met	p.K40M	ENST00000256460	NM_003656.4	40	aAg/aTg	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS2576.1	995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTTATCT	NONE	.	.	.	.	.	ENSP00000306561	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000302036	Transcript	.	.	ENSG00000114026	8125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	deleterious(0)	.	OGG1_HUMAN	OGG1	HGNC	E5KPM5_HUMAN	.	UPI000002B01B	SNV	OGG1,missense_variant,p.Leu265His,ENST00000349503,;OGG1,missense_variant,p.Leu332His,ENST00000302036,;OGG1,missense_variant,p.Leu171His,ENST00000352937,;CAMK1,missense_variant,p.Lys40Met,ENST00000256460,;OGG1,3_prime_UTR_variant,,ENST00000302008,;OGG1,3_prime_UTR_variant,,ENST00000449570,;OGG1,3_prime_UTR_variant,,ENST00000383826,;CAMK1,intron_variant,,ENST00000411972,;OGG1,intron_variant,,ENST00000426518,;CAMK1,upstream_gene_variant,,ENST00000421120,;CAMK1,3_prime_UTR_variant,,ENST00000397277,;OGG1,downstream_gene_variant,,ENST00000602976,;	1338	59	72	SUCCESS
TET2	54790	.	GRCh37	4	106164733	106164733	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1373336171	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	69	0	ENST00000380013.4:c.3601C>T	p.Arg1201Cys	p.R1201C	ENST00000380013	NM_001127208.2	1201	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS47120.1	3601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCGCAGA	NONE	.	.	hmmpanther:PTHR23358:SF3,hmmpanther:PTHR23358	.	.	ENSP00000442788	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,missense_variant,p.Arg1201Cys,ENST00000540549,;TET2,missense_variant,p.Arg1222Cys,ENST00000513237,;TET2,missense_variant,p.Arg1201Cys,ENST00000380013,;TET2,synonymous_variant,p.%3D,ENST00000545826,;TET2,downstream_gene_variant,,ENST00000305737,;TET2,downstream_gene_variant,,ENST00000413648,;TET2,downstream_gene_variant,,ENST00000394764,;TET2,synonymous_variant,p.%3D,ENST00000265149,;	4461	69	60	SUCCESS
FBXW7	55294	.	GRCh37	4	153253807	153253807	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760675122	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	6	139	0	ENST00000281708.4:c.926G>A	p.Arg309His	p.R309H	ENST00000281708	NM_033632.3	309	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS3777.1	926	MUTECT|MUSE	.	AGTAGCGACAT	NONE	.	.	Superfamily_domains:SSF81383,SMART_domains:SM00256,Gene3D:1.20.1280.50,Pfam_domain:PF12937,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF116,PROSITE_profiles:PS50181	.	.	ENSP00000281708	.	6/12	.	.	.	.	.	.	.	.	rs760675122	6/12	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.125)	.	tolerated(0.09)	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,missense_variant,p.Arg309His,ENST00000603548,;FBXW7,missense_variant,p.Arg229His,ENST00000263981,;FBXW7,missense_variant,p.Arg191His,ENST00000296555,;FBXW7,missense_variant,p.Arg133His,ENST00000393956,;FBXW7,missense_variant,p.Arg309His,ENST00000281708,;FBXW7,missense_variant,p.Arg309His,ENST00000603841,;RP11-461L13.2,upstream_gene_variant,,ENST00000605147,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604069,;FBXW7,upstream_gene_variant,,ENST00000603821,;	2156	139	170	SUCCESS
FAT1	2195	.	GRCh37	4	187509747	187509747	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	39	0	ENST00000441802.2:c.13766G>T	p.Ter4589LeuextTer94	p.*4589Lext*94	ENST00000441802	NM_005245.3	4589	tGa/tTa	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS47177.1	13766	MUTECT|MUSE	.	AGAGTCAGACT	NONE	.	.	.	.	.	ENSP00000406229	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,stop_lost,p.Ter4589LeuextTer94,ENST00000441802,;FAT1,stop_lost,p.Ter369LeuextTer?,ENST00000512772,;FAT1,downstream_gene_variant,,ENST00000509927,;FAT1,downstream_gene_variant,,ENST00000507105,;FAT1,non_coding_transcript_exon_variant,,ENST00000500085,;FAT1,downstream_gene_variant,,ENST00000509537,;	13976	39	34	SUCCESS
FAT1	2195	.	GRCh37	4	187630712	187630712	+	synonymous_variant	Silent	SNP	G	G	A	rs373265178	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	77	0	ENST00000441802.2:c.270C>T	p.Leu90=	p.L90=	ENST00000441802	NM_005245.3	90	ctC/ctT	0	A:0.0003	.	.	.	.	A	L	protein_coding	YES	CCDS47177.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGAGAAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	A:0	ENSP00000406229	.	2/27	.	.	.	.	.	.	.	.	rs373265178,COSM209154	2/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,synonymous_variant,p.%3D,ENST00000509647,;FAT1,synonymous_variant,p.%3D,ENST00000441802,;	480	77	92	SUCCESS
NPFFR2	10886	.	GRCh37	4	72994622	72994622	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	66	0	ENST00000308744.6:c.620A>G	p.Asp207Gly	p.D207G	ENST00000308744	NM_004885.2	207	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3551.1	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGACAATA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01572,Prints_domain:PR01570	.	.	ENSP00000307822	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000308744	Transcript	.	.	ENSG00000056291	4525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	NPFF2_HUMAN	NPFFR2	HGNC	A0PJM9_HUMAN	.	UPI000012FFBD	SNV	NPFFR2,missense_variant,p.Asp207Gly,ENST00000308744,;NPFFR2,missense_variant,p.Asp105Gly,ENST00000358749,;NPFFR2,missense_variant,p.Asp108Gly,ENST00000395999,;NPFFR2,intron_variant,,ENST00000344413,;	718	66	68	SUCCESS
COQ2	27235	.	GRCh37	4	84205844	84205844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1221771114	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	219	400	0	ENST00000311469.4:c.224G>A	p.Arg75Gln	p.R75Q	ENST00000311469	NM_015697.7	75	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS47090.2	224	RADIA|SOMATICSNIPER|VARSCANS	.	GGCCCCGCCAG	NONE	.	.	.	.	.	ENSP00000310873	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000311469	Transcript	1	.	ENSG00000173085	25223	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.073)	.	deleterious_low_confidence(0.02)	.	COQ2_HUMAN	COQ2	HGNC	.	.	UPI0000D6158E	SNV	COQ2,missense_variant,p.Arg25Gln,ENST00000311461,;COQ2,missense_variant,p.Arg38Gln,ENST00000439031,;COQ2,missense_variant,p.Arg75Gln,ENST00000311469,;COQ2,upstream_gene_variant,,ENST00000514935,;COQ2,missense_variant,p.Arg25Gln,ENST00000503391,;	224	400	466	SUCCESS
SNCB	6620	.	GRCh37	5	176056620	176056620	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	55	134	0	ENST00000310112.3:c.36G>A	p.Lys12=	p.K12=	ENST00000310112	NM_001001502.1	12	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS4406.1	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCTTGGC	NONE	.	.	hmmpanther:PTHR13820,Pfam_domain:PF01387,Gene3D:1xq8A00,Superfamily_domains:0053543,Prints_domain:PR01211	.	.	ENSP00000308057	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000310112	Transcript	.	.	ENSG00000074317	11140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYUB_HUMAN	SNCB	HGNC	G4Y816_HUMAN	.	UPI000003173C	SNV	SNCB,synonymous_variant,p.%3D,ENST00000506696,;SNCB,synonymous_variant,p.%3D,ENST00000393693,;SNCB,synonymous_variant,p.%3D,ENST00000310112,;SNCB,synonymous_variant,p.%3D,ENST00000510387,;EIF4E1B,upstream_gene_variant,,ENST00000318682,;EIF4E1B,upstream_gene_variant,,ENST00000510660,;MIR4281,upstream_gene_variant,,ENST00000580852,;EIF4E1B,upstream_gene_variant,,ENST00000510473,;SNCB,non_coding_transcript_exon_variant,,ENST00000508006,;EIF4E1B,upstream_gene_variant,,ENST00000515458,;	287	134	134	SUCCESS
ZFP2	80108	.	GRCh37	5	178358992	178358992	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	65	0	ENST00000361362.2:c.678C>T	p.Ser226=	p.S226=	ENST00000361362	NM_030613.2	226	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4440.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCATGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF183,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,synonymous_variant,p.%3D,ENST00000520301,;ZFP2,synonymous_variant,p.%3D,ENST00000503510,;ZFP2,synonymous_variant,p.%3D,ENST00000361362,;ZFP2,synonymous_variant,p.%3D,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1208	65	89	SUCCESS
CCDC152	100129792	.	GRCh37	5	42799777	42799779	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	rs759351782	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	112	66	138	0	ENST00000361970.5:c.664_666del	p.Glu222del	p.E222del	ENST00000361970	NM_001134848.1	220	cAAGaa/caa	0	.	.	.	.	.	-	QE/Q	protein_coding	YES	CCDS47203.1	659-661	INDELOCATOR|VARSCANI	.	ATTTTCAAGAAGAA	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000354888	.	9/9	.	.	.	.	.	.	.	.	rs759351782	9/9	PASS	ENST00000361970	Transcript	.	.	ENSG00000198865	34438	5	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC152_HUMAN	CCDC152	HGNC	.	.	UPI0000160C50	deletion	CCDC152,inframe_deletion,p.Glu166del,ENST00000388827,;CCDC152,inframe_deletion,p.Glu222del,ENST00000361970,;SEPP1,downstream_gene_variant,,ENST00000511224,;SEPP1,downstream_gene_variant,,ENST00000514218,;SEPP1,downstream_gene_variant,,ENST00000514985,;SEPP1,downstream_gene_variant,,ENST00000506577,;SEPP1,downstream_gene_variant,,ENST00000510965,;SEPP1,downstream_gene_variant,,ENST00000507920,;SEPP1,downstream_gene_variant,,ENST00000513303,;SEPP1,downstream_gene_variant,,ENST00000509276,;SEPP1,downstream_gene_variant,,ENST00000512980,;SEPP1,downstream_gene_variant,,ENST00000514403,;SEPP1,downstream_gene_variant,,ENST00000505309,;	746-748	138	178	SUCCESS
OR2A4	79541	.	GRCh37	6	132021685	132021685	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	34	78	0	ENST00000315453.2:c.857C>G	p.Pro286Arg	p.P286R	ENST00000315453	NM_030908.1	286	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS5149.1	857	RADIA|SOMATICSNIPER|VARSCANS	.	TAAGGGGATTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF135,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000319546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315453	Transcript	.	.	ENSG00000180658	14729	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	OR2A4_HUMAN	OR2A4	HGNC	.	.	UPI000003F21F	SNV	OR2A4,missense_variant,p.Pro286Arg,ENST00000315453,;ENPP3,intron_variant,,ENST00000358229,;ENPP3,intron_variant,,ENST00000357639,;ENPP3,intron_variant,,ENST00000414305,;	951	78	52	SUCCESS
MAP7	9053	.	GRCh37	6	136871557	136871557	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	19	0	ENST00000354570.3:c.-11A>G		p.*4*	ENST00000354570	NM_001198616.1			0	.	.	.	.	.	C	.	antisense	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCGATGACGC	NONE	.	242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000607749	Transcript	.	.	ENSG00000272189	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP3-325F22.5	Clone_based_vega_gene	.	.	.	SNV	MAP7,5_prime_UTR_variant,,ENST00000354570,;RP3-325F22.5,upstream_gene_variant,,ENST00000607749,;7SK,downstream_gene_variant,,ENST00000606679,;	.	19	16	SUCCESS
SRSF3	6428	.	GRCh37	6	36564715	36564715	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	81	0	ENST00000373715.6:c.176C>A	p.Ala59Glu	p.A59E	ENST00000373715	NM_003017.4	59	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS4823.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCAGCTG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR10548,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000362820	.	2/6	.	.	.	.	.	.	.	.	COSM3949131,COSM3949132	2/6	PASS	ENST00000373715	Transcript	.	.	ENSG00000112081	10785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1	SRSF3_HUMAN	SRSF3	HGNC	B2R6F3_HUMAN	.	UPI0000004131	SNV	SRSF3,missense_variant,p.Ala59Glu,ENST00000339436,;SRSF3,missense_variant,p.Ala59Glu,ENST00000373715,;SRSF3,missense_variant,p.Ala59Glu,ENST00000477442,;	292	81	87	SUCCESS
TREML1	340205	.	GRCh37	6	41121748	41121748	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765491828	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	40	76	0	ENST00000426005.2:c.124C>G	p.Leu42Val	p.L42V	ENST00000426005	NM_178174.3	42	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4851.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGCCTGT	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR11860:SF35,hmmpanther:PTHR11860	.	.	ENSP00000402855	.	2/6	.	.	.	.	.	.	.	.	rs765491828	2/6	PASS	ENST00000426005	Transcript	.	.	ENSG00000161911	20434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.412)	.	tolerated(0.27)	.	TRML1_HUMAN	TREML1	HGNC	.	.	UPI0000074451	SNV	TREML1,missense_variant,p.Leu42Val,ENST00000373127,;TREML1,missense_variant,p.Leu42Val,ENST00000426005,;TREML1,intron_variant,,ENST00000437044,;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,;TREM2,downstream_gene_variant,,ENST00000373113,;TREML1,upstream_gene_variant,,ENST00000590581,;	168	76	90	SUCCESS
FOXP4	116113	.	GRCh37	6	41558024	41558024	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	95	0	ENST00000307972.4:c.1373A>G	p.His458Arg	p.H458R	ENST00000307972		458	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS34447.1	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCATGAGT	NONE	.	.	Gene3D:1.10.10.10,hmmpanther:PTHR25042:SF13,hmmpanther:PTHR25042	.	.	ENSP00000362151	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000373060	Transcript	.	.	ENSG00000137166	20842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	tolerated(0.6)	.	FOXP4_HUMAN	FOXP4	HGNC	Q8N4A5_HUMAN,Q69YN9_HUMAN	.	UPI000007462D	SNV	FOXP4,missense_variant,p.His445Arg,ENST00000373063,;FOXP4,missense_variant,p.His458Arg,ENST00000307972,;FOXP4,missense_variant,p.His446Arg,ENST00000409208,;FOXP4,missense_variant,p.His456Arg,ENST00000373057,;FOXP4,missense_variant,p.His458Arg,ENST00000373060,;	1831	95	101	SUCCESS
ALKBH4	54784	.	GRCh37	7	102105174	102105174	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	115	0	ENST00000292566.3:c.110A>G	p.Glu37Gly	p.E37G	ENST00000292566	NM_017621.3	37	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5723.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTCCCAG	NONE	.	.	hmmpanther:PTHR12463	.	.	ENSP00000292566	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000292566	Transcript	.	.	ENSG00000160993	21900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.06)	.	ALKB4_HUMAN	ALKBH4	HGNC	.	.	UPI0000073F0C	SNV	ALKBH4,missense_variant,p.Glu37Gly,ENST00000292566,;LRWD1,upstream_gene_variant,,ENST00000468175,;LRWD1,upstream_gene_variant,,ENST00000292616,;MIR5090,upstream_gene_variant,,ENST00000582533,;ALKBH4,missense_variant,p.Glu37Gly,ENST00000490528,;ALKBH4,non_coding_transcript_exon_variant,,ENST00000498283,;LRWD1,upstream_gene_variant,,ENST00000485808,;LRWD1,upstream_gene_variant,,ENST00000485417,;LRWD1,upstream_gene_variant,,ENST00000464107,;LRWD1,upstream_gene_variant,,ENST00000463739,;LRWD1,upstream_gene_variant,,ENST00000473880,;LRWD1,upstream_gene_variant,,ENST00000476270,;	150	115	129	SUCCESS
ALKBH4	54784	.	GRCh37	7	102105175	102105175	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	52	115	0	ENST00000292566.3:c.109G>A	p.Glu37Lys	p.E37K	ENST00000292566	NM_017621.3	37	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5723.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCCCAGG	NONE	.	.	hmmpanther:PTHR12463	.	.	ENSP00000292566	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000292566	Transcript	.	.	ENSG00000160993	21900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.33)	.	ALKB4_HUMAN	ALKBH4	HGNC	.	.	UPI0000073F0C	SNV	ALKBH4,missense_variant,p.Glu37Lys,ENST00000292566,;LRWD1,upstream_gene_variant,,ENST00000468175,;LRWD1,upstream_gene_variant,,ENST00000292616,;MIR5090,upstream_gene_variant,,ENST00000582533,;ALKBH4,missense_variant,p.Glu37Lys,ENST00000490528,;ALKBH4,non_coding_transcript_exon_variant,,ENST00000498283,;LRWD1,upstream_gene_variant,,ENST00000485808,;LRWD1,upstream_gene_variant,,ENST00000485417,;LRWD1,upstream_gene_variant,,ENST00000464107,;LRWD1,upstream_gene_variant,,ENST00000463739,;LRWD1,upstream_gene_variant,,ENST00000473880,;LRWD1,upstream_gene_variant,,ENST00000476270,;	149	115	130	SUCCESS
TRPV5	56302	.	GRCh37	7	142626585	142626585	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1282109797	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	80	0	ENST00000265310.1:c.425G>A	p.Ser142Asn	p.S142N	ENST00000265310	NM_019841.4	142	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS5875.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACTGGCC	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000265310	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,missense_variant,p.Ser142Asn,ENST00000442623,;TRPV5,missense_variant,p.Ser136Asn,ENST00000439304,;TRPV5,missense_variant,p.Ser142Asn,ENST00000265310,;	774	80	78	SUCCESS
AMPH	273	.	GRCh37	7	38543259	38543259	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	48	0	ENST00000356264.2:c.196G>T	p.Ala66Ser	p.A66S	ENST00000356264	NM_001635.3	66	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5456.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGCTGCTA	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000348602	.	3/21	.	.	.	.	.	.	.	.	COSM3638573,COSM3638574	3/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	tolerated(0.48)	1,1	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Ala66Ser,ENST00000356264,;AMPH,missense_variant,p.Ala66Ser,ENST00000428293,;AMPH,missense_variant,p.Ala66Ser,ENST00000325590,;	412	48	81	SUCCESS
DLX6	1750	.	GRCh37	7	96635545	96635547	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	rs746036175	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	CAC	CAC	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	74	0	ENST00000518156.2:c.273_275del	p.His91del	p.H91del	ENST00000518156		86	CAC/-	0	.	.	.	.	.	-	H/-	protein_coding	YES	CCDS47647.2	256-258	INDELOCATOR|VARSCANI	.	GGCTCGCACCACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24327:SF26,hmmpanther:PTHR24327	.	.	ENSP00000428480	.	1/3	.	.	.	.	.	.	.	.	rs757484245,TMP_ESP_7_96635545_96635547	1/3	PASS	ENST00000518156	Transcript	.	.	ENSG00000006377	2919	17	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLX6_HUMAN	DLX6	HGNC	.	.	UPI0000EE57E0	deletion	DLX6,inframe_deletion,p.His63del,ENST00000007660,;DLX6,inframe_deletion,p.His91del,ENST00000518156,;DLX6,upstream_gene_variant,,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS1,upstream_gene_variant,,ENST00000431497,;DLX6-AS2,downstream_gene_variant,,ENST00000606174,;DLX6,upstream_gene_variant,,ENST00000493273,;	686-688	74	88	SUCCESS
ZNF394	84124	.	GRCh37	7	99097503	99097503	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	50	0	ENST00000337673.6:c.214T>G	p.Tyr72Asp	p.Y72D	ENST00000337673	NM_032164.2	72	Tac/Gac	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS5666.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTAACGCA	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000337363	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000337673	Transcript	.	.	ENSG00000160908	18832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN394_HUMAN	ZNF394	HGNC	.	.	UPI000006F498	SNV	ZNF394,missense_variant,p.Tyr72Asp,ENST00000337673,;ZNF394,missense_variant,p.Tyr72Asp,ENST00000426306,;ZNF789,intron_variant,,ENST00000493485,;ZKSCAN5,upstream_gene_variant,,ENST00000451158,;ZKSCAN5,upstream_gene_variant,,ENST00000326775,;ZNF394,intron_variant,,ENST00000394177,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,upstream_gene_variant,,ENST00000462024,;ZNF394,non_coding_transcript_exon_variant,,ENST00000485576,;ZNF394,non_coding_transcript_exon_variant,,ENST00000481881,;ZNF394,upstream_gene_variant,,ENST00000464401,;	418	50	35	SUCCESS
SLC35G5	83650	.	GRCh37	8	11189172	11189172	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754026343	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	47	0	ENST00000382435.4:c.557G>T	p.Gly186Val	p.G186V	ENST00000382435	NM_054028.1	186	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5980.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGTGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911	.	.	ENSP00000371872	.	1/1	.	.	.	.	.	.	.	.	rs754026343	1/1	PASS	ENST00000382435	Transcript	.	.	ENSG00000177710	15546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	tolerated(0.05)	.	S35G5_HUMAN	SLC35G5	HGNC	.	.	UPI0000071B8F	SNV	SLC35G5,missense_variant,p.Gly186Val,ENST00000382435,;MTMR9,downstream_gene_variant,,ENST00000221086,;	776	47	28	SUCCESS
WDYHV1	0	.	GRCh37	8	124449502	124449502	+	synonymous_variant	Silent	SNP	C	C	A	rs747631990	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	53	0	ENST00000287387.2:c.436C>A	p.Arg146=	p.R146=	ENST00000287387	NM_018024.1	146	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6344.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCGATCT	NONE	.	.	hmmpanther:PTHR13035,hmmpanther:PTHR13035:SF0,Gene3D:3c9qA00,Pfam_domain:PF09764	.	.	ENSP00000287387	.	5/6	.	.	.	.	.	.	.	.	rs747631990	5/6	PASS	ENST00000287387	Transcript	.	.	ENSG00000156795	25490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTAQ1_HUMAN	WDYHV1	HGNC	E5RIY9_HUMAN,B4DE68_HUMAN	.	UPI0000073310	SNV	WDYHV1,synonymous_variant,p.%3D,ENST00000523984,;WDYHV1,synonymous_variant,p.%3D,ENST00000523356,;WDYHV1,synonymous_variant,p.%3D,ENST00000287387,;WDYHV1,5_prime_UTR_variant,,ENST00000518125,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000524254,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000517609,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000523551,;WDYHV1,3_prime_UTR_variant,,ENST00000519199,;	561	53	69	SUCCESS
NKX3-1	4824	.	GRCh37	8	23538754	23538754	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	26	89	0	ENST00000380871.4:c.685T>A	p.Trp229Arg	p.W229R	ENST00000380871	NM_006167.3	229	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS6042.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGCTGC	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF30	.	.	ENSP00000370253	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380871	Transcript	.	.	ENSG00000167034	7838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NKX31_HUMAN	NKX3-1	HGNC	.	.	UPI00001301F4	SNV	NKX3-1,missense_variant,p.Trp229Arg,ENST00000380871,;NKX3-1,missense_variant,p.Trp154Arg,ENST00000523261,;	723	89	37	SUCCESS
HSDL2	84263	.	GRCh37	9	115179158	115179158	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	40	0	ENST00000398805.3:c.433G>T	p.Val145Phe	p.V145F	ENST00000398805	NM_032303.4	145	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS43864.1	433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGTTGCT	NONE	.	.	Superfamily_domains:SSF51735,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF273	.	.	ENSP00000381785	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000398805	Transcript	.	.	ENSG00000119471	18572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.02)	.	HSDL2_HUMAN	HSDL2	HGNC	B4E136_HUMAN,B4DWC7_HUMAN	.	UPI0000039E52	SNV	HSDL2,missense_variant,p.Val25Phe,ENST00000262542,;HSDL2,missense_variant,p.Val145Phe,ENST00000398805,;HSDL2,intron_variant,,ENST00000539114,;HSDL2,intron_variant,,ENST00000398803,;HSDL2,non_coding_transcript_exon_variant,,ENST00000488101,;HSDL2,non_coding_transcript_exon_variant,,ENST00000480881,;HSDL2,intron_variant,,ENST00000467434,;	660	40	76	SUCCESS
CIZ1	25792	.	GRCh37	9	130943066	130943066	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	31	0	ENST00000372938.5:c.616G>T	p.Glu206Ter	p.E206*	ENST00000372938	NM_001131016.1	206	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6894.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCACAG	NONE	.	.	hmmpanther:PTHR15491:SF9,hmmpanther:PTHR15491	.	.	ENSP00000377232	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000393608	Transcript	.	.	ENSG00000148337	16744	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CIZ1_HUMAN	CIZ1	HGNC	Q9Y3F8_HUMAN,F6WSM2_HUMAN,F6VD24_HUMAN,B0EXJ7_HUMAN	.	UPI0000141722	SNV	CIZ1,stop_gained,p.Glu206Ter,ENST00000324544,;CIZ1,stop_gained,p.Glu177Ter,ENST00000325721,;CIZ1,stop_gained,p.Glu206Ter,ENST00000372948,;CIZ1,stop_gained,p.Glu206Ter,ENST00000357558,;CIZ1,stop_gained,p.Glu128Ter,ENST00000415526,;CIZ1,stop_gained,p.Glu206Ter,ENST00000538431,;CIZ1,stop_gained,p.Glu206Ter,ENST00000372938,;CIZ1,stop_gained,p.Glu206Ter,ENST00000277465,;CIZ1,stop_gained,p.Glu105Ter,ENST00000541172,;CIZ1,stop_gained,p.Glu206Ter,ENST00000393608,;CIZ1,stop_gained,p.Glu182Ter,ENST00000372954,;CIZ1,downstream_gene_variant,,ENST00000420484,;CIZ1,non_coding_transcript_exon_variant,,ENST00000498156,;CIZ1,non_coding_transcript_exon_variant,,ENST00000476239,;CIZ1,non_coding_transcript_exon_variant,,ENST00000476727,;CIZ1,non_coding_transcript_exon_variant,,ENST00000467178,;CIZ1,non_coding_transcript_exon_variant,,ENST00000491954,;CIZ1,non_coding_transcript_exon_variant,,ENST00000488559,;CIZ1,upstream_gene_variant,,ENST00000475471,;CIZ1,downstream_gene_variant,,ENST00000474442,;CIZ1,upstream_gene_variant,,ENST00000471839,;	819	31	24	SUCCESS
OFD1	8481	.	GRCh37	X	13752898	13752898	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	32	63	0	ENST00000340096.6:c.-293T>A		p.*98*	ENST00000340096	NM_003611.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14157.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTTCAGT	NONE	.	.	.	.	.	ENSP00000344314	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000340096	Transcript	.	.	ENSG00000046651	2567	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OFD1_HUMAN	OFD1	HGNC	E9KL37_HUMAN,A8K2T9_HUMAN,A6NF31_HUMAN	.	UPI0000130C40	SNV	OFD1,5_prime_UTR_variant,,ENST00000398395,;OFD1,5_prime_UTR_variant,,ENST00000380567,;OFD1,5_prime_UTR_variant,,ENST00000340096,;OFD1,5_prime_UTR_variant,,ENST00000380550,;TRAPPC2,upstream_gene_variant,,ENST00000518847,;TRAPPC2,upstream_gene_variant,,ENST00000380579,;TRAPPC2,upstream_gene_variant,,ENST00000453655,;TRAPPC2,upstream_gene_variant,,ENST00000519885,;TRAPPC2,upstream_gene_variant,,ENST00000358231,;TRAPPC2,upstream_gene_variant,,ENST00000458511,;TRAPPC2,upstream_gene_variant,,ENST00000359680,;OFD1,non_coding_transcript_exon_variant,,ENST00000490265,;OFD1,non_coding_transcript_exon_variant,,ENST00000485052,;OFD1,upstream_gene_variant,,ENST00000466534,;TRAPPC2,upstream_gene_variant,,ENST00000519382,;	35	63	51	SUCCESS
SMC3	9126	.	GRCh37	10	112349410	112349410	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	497	157	658	0	ENST00000361804.4:c.1353G>A	p.Leu451=	p.L451=	ENST00000361804	NM_005445.3	451	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31285.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGGACAG	NONE	.	.	Pfam_domain:PF02463,hmmpanther:PTHR18937:SF164,hmmpanther:PTHR18937,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000354720	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000361804	Transcript	1	.	ENSG00000108055	2468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC3_HUMAN	SMC3	HGNC	.	.	UPI0000135A8D	SNV	SMC3,synonymous_variant,p.%3D,ENST00000361804,;	1479	658	655	SUCCESS
TACC2	10579	.	GRCh37	10	123845998	123845998	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	74	0	ENST00000334433.3:c.3983G>T	p.Cys1328Phe	p.C1328F	ENST00000334433		1328	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS7626.1	3983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATGCCTGG	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Cys1328Phe,ENST00000369005,;TACC2,missense_variant,p.Cys1328Phe,ENST00000453444,;TACC2,missense_variant,p.Cys1328Phe,ENST00000334433,;TACC2,missense_variant,p.Cys1328Phe,ENST00000515603,;TACC2,missense_variant,p.Cys1328Phe,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	4323	74	71	SUCCESS
CPEB3	22849	.	GRCh37	10	93811980	93811980	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761798097	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	51	95	0	ENST00000265997.4:c.2086C>T	p.Arg696Cys	p.R696C	ENST00000265997	NM_014912.4	696	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS31246.1	2086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGGAACG	NONE	.	.	hmmpanther:PTHR12566,hmmpanther:PTHR12566:SF7	.	.	ENSP00000265997	.	10/10	.	.	.	.	.	.	.	.	rs761798097	10/10	PASS	ENST00000265997	Transcript	.	.	ENSG00000107864	21746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0)	.	CPEB3_HUMAN	CPEB3	HGNC	.	.	UPI000013F7DE	SNV	CPEB3,missense_variant,p.Arg696Cys,ENST00000265997,;CPEB3,missense_variant,p.Arg682Cys,ENST00000412050,;	2259	95	89	SUCCESS
DUSP8	1850	.	GRCh37	11	1578679	1578679	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762127578	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	27	0	ENST00000331588.4:c.947C>T	p.Thr316Met	p.T316M	ENST00000331588		316	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS7724.1	947	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCGTCCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF108,hmmpanther:PTHR10159	.	.	ENSP00000380530	.	7/7	.	.	.	.	.	.	.	.	rs762127578	7/7	PASS	ENST00000397374	Transcript	.	.	ENSG00000184545	3074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.12)	.	DUS8_HUMAN	DUSP8	HGNC	.	.	UPI000000DAD1	SNV	DUSP8,missense_variant,p.Thr316Met,ENST00000397374,;DUSP8,missense_variant,p.Thr316Met,ENST00000331588,;DUSP8,downstream_gene_variant,,ENST00000528778,;	1075	27	37	SUCCESS
FNBP4	23360	.	GRCh37	11	47744606	47744606	+	synonymous_variant	Silent	SNP	A	A	T	rs546179833	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	48	0	ENST00000263773.5:c.2727T>A	p.Pro909=	p.P909=	ENST00000263773	NM_015308.2	909	ccT/ccA	0	.	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS41644.1	2727	MUTECT|MUSE|VARSCANS	.	GGAGGAGGTGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186	T:0.001	.	ENSP00000263773	T:0	15/17	.	.	.	.	.	.	.	.	rs546179833,COSM927488	15/17	PASS	ENST00000263773	Transcript	.	T:0.0006	ENSG00000109920	19752	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0.002	.	0,1	FNBP4_HUMAN	FNBP4	HGNC	.	.	UPI0000DBEF37	SNV	FNBP4,synonymous_variant,p.%3D,ENST00000263773,;snoU13,upstream_gene_variant,,ENST00000516638,;Y_RNA,downstream_gene_variant,,ENST00000363220,;FNBP4,non_coding_transcript_exon_variant,,ENST00000532646,;FNBP4,intron_variant,,ENST00000526109,;FNBP4,downstream_gene_variant,,ENST00000531394,;FNBP4,downstream_gene_variant,,ENST00000525792,;FNBP4,non_coding_transcript_exon_variant,,ENST00000530207,;	2740	48	41	SUCCESS
EFEMP2	30008	.	GRCh37	11	65638736	65638736	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149525720	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	72	174	0	ENST00000307998.6:c.259G>A	p.Val87Ile	p.V87I	ENST00000307998	NM_016938.4	87	Gtc/Atc	0	T:0.0005	.	.	.	.	T	V/I	protein_coding	YES	CCDS8116.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGACGGCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF2,Gene3D:2.10.25.10,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	T:0.0001	ENSP00000309953	.	4/11	.	.	.	.	.	.	.	.	rs149525720,COSM1356090	4/11	PASS	ENST00000307998	Transcript	.	.	ENSG00000172638	3219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.044)	.	tolerated(0.67)	0,1	FBLN4_HUMAN	EFEMP2	HGNC	E9PRQ8_HUMAN,E9PKA3_HUMAN,E9PI47_HUMAN	.	UPI000013EC97	SNV	EFEMP2,missense_variant,p.Val87Ile,ENST00000307998,;EFEMP2,missense_variant,p.Val87Ile,ENST00000526624,;EFEMP2,missense_variant,p.Val87Ile,ENST00000528176,;EFEMP2,missense_variant,p.Val87Ile,ENST00000527378,;EFEMP2,upstream_gene_variant,,ENST00000531645,;MUS81,downstream_gene_variant,,ENST00000533035,;EFEMP2,upstream_gene_variant,,ENST00000526911,;EFEMP2,upstream_gene_variant,,ENST00000530806,;MUS81,downstream_gene_variant,,ENST00000529742,;MUS81,downstream_gene_variant,,ENST00000308110,;EFEMP2,upstream_gene_variant,,ENST00000532648,;MUS81,downstream_gene_variant,,ENST00000525006,;EFEMP2,missense_variant,p.Val87Ile,ENST00000531972,;EFEMP2,3_prime_UTR_variant,,ENST00000530850,;EFEMP2,3_prime_UTR_variant,,ENST00000533347,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000531005,;EFEMP2,upstream_gene_variant,,ENST00000527969,;MUS81,downstream_gene_variant,,ENST00000531905,;MUS81,downstream_gene_variant,,ENST00000530928,;EFEMP2,upstream_gene_variant,,ENST00000526628,;EFEMP2,downstream_gene_variant,,ENST00000529870,;EFEMP2,upstream_gene_variant,,ENST00000525392,;MUS81,downstream_gene_variant,,ENST00000524647,;EFEMP2,upstream_gene_variant,,ENST00000532084,;EFEMP2,upstream_gene_variant,,ENST00000524408,;EFEMP2,upstream_gene_variant,,ENST00000527277,;MUS81,downstream_gene_variant,,ENST00000533519,;EFEMP2,upstream_gene_variant,,ENST00000528409,;	490	174	146	SUCCESS
SWAP70	23075	.	GRCh37	11	9754136	9754136	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756992212	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	133	243	0	ENST00000318950.6:c.959G>A	p.Arg320His	p.R320H	ENST00000318950	NM_015055.2	320	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS31426.1	959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGCCAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF6	.	.	ENSP00000315630	.	7/12	.	.	.	.	.	.	.	.	rs756992212,COSM933679	7/12	PASS	ENST00000318950	Transcript	.	.	ENSG00000133789	17070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.943)	.	deleterious(0)	0,1	SWP70_HUMAN	SWAP70	HGNC	E9PJM7_HUMAN	.	UPI0000073652	SNV	SWAP70,missense_variant,p.Arg262His,ENST00000447399,;SWAP70,missense_variant,p.Arg171His,ENST00000534662,;SWAP70,missense_variant,p.Arg320His,ENST00000318950,;SWAP70,3_prime_UTR_variant,,ENST00000534562,;SWAP70,non_coding_transcript_exon_variant,,ENST00000524817,;SWAP70,downstream_gene_variant,,ENST00000526358,;	1062	243	286	SUCCESS
MPHOSPH9	10198	.	GRCh37	12	123687524	123687524	+	synonymous_variant	Silent	SNP	C	C	T	rs781525826	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	115	219	1	ENST00000606320.1:c.1428G>A	p.Pro476=	p.P476=	ENST00000606320	NM_022782.3	476	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	.	972	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GAGTCCGGGGA	NONE	byFrequency	.	hmmpanther:PTHR14926:SF1,hmmpanther:PTHR14926	.	.	ENSP00000376220	.	6/20	.	.	.	.	.	.	.	.	rs781525826	6/20	PASS	ENST00000392425	Transcript	.	.	ENSG00000051825	7215	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MPP9_HUMAN	MPHOSPH9	HGNC	.	.	UPI00001D62B9	SNV	MPHOSPH9,synonymous_variant,p.%3D,ENST00000302349,;MPHOSPH9,synonymous_variant,p.%3D,ENST00000541076,;MPHOSPH9,synonymous_variant,p.%3D,ENST00000539336,;MPHOSPH9,synonymous_variant,p.%3D,ENST00000606320,;MPHOSPH9,synonymous_variant,p.%3D,ENST00000392425,;MPHOSPH9,synonymous_variant,p.%3D,ENST00000302373,;MPHOSPH9,synonymous_variant,p.%3D,ENST00000539024,;MPHOSPH9,intron_variant,,ENST00000545556,;MPHOSPH9,upstream_gene_variant,,ENST00000606326,;	1079	220	175	SUCCESS
POLE	5426	.	GRCh37	12	133254296	133254296	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	71	153	0	ENST00000320574.5:c.588G>A	p.Gln196=	p.Q196=	ENST00000320574	NM_006231.2	196	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9278.1	588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCTGCAG	NONE	.	.	hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0,Pfam_domain:PF03104	.	.	ENSP00000322570	.	7/49	.	.	.	.	.	.	.	.	.	7/49	PASS	ENST00000320574	Transcript	.	.	ENSG00000177084	9177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOE1_HUMAN	POLE	HGNC	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN	.	UPI00001FBF97	SNV	POLE,synonymous_variant,p.%3D,ENST00000320574,;POLE,synonymous_variant,p.%3D,ENST00000535270,;POLE,5_prime_UTR_variant,,ENST00000539006,;POLE,upstream_gene_variant,,ENST00000535934,;POLE,downstream_gene_variant,,ENST00000539618,;POLE,synonymous_variant,p.%3D,ENST00000537064,;POLE,downstream_gene_variant,,ENST00000539357,;POLE,upstream_gene_variant,,ENST00000545015,;POLE,upstream_gene_variant,,ENST00000539215,;	632	153	101	SUCCESS
H2AFJ	0	.	GRCh37	12	14927300	14927300	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	43	0	ENST00000544848.1:c.-105C>T		p.*35*	ENST00000544848	NM_177925.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31752.1	.	MUTECT|MUSE	.	GCGGCCGTAAA	NONE	.	.	.	.	.	ENSP00000438553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000544848	Transcript	.	.	ENSG00000246705	14456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	SNV	H2AFJ,5_prime_UTR_variant,,ENST00000544848,;HIST4H4,upstream_gene_variant,,ENST00000539745,;HIST4H4,upstream_gene_variant,,ENST00000537853,;HIST4H4,upstream_gene_variant,,ENST00000537096,;HIST4H4,upstream_gene_variant,,ENST00000541592,;HIST4H4,upstream_gene_variant,,ENST00000540565,;H2AFJ,upstream_gene_variant,,ENST00000389078,;H2AFJ,upstream_gene_variant,,ENST00000501744,;HIST4H4,upstream_gene_variant,,ENST00000358064,;	31	43	36	SUCCESS
SYT10	341359	.	GRCh37	12	33560128	33560128	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	96	0	ENST00000228567.3:c.673C>G	p.Gln225Glu	p.Q225E	ENST00000228567	NM_198992.3	225	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS8732.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGGTTGC	BUFFER|p.E227K|c.679G>A|4	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,Gene3D:2.60.40.150	.	.	ENSP00000228567	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000228567	Transcript	.	.	ENSG00000110975	19266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.42)	.	SYT10_HUMAN	SYT10	HGNC	F5H2A8_HUMAN	.	UPI0000052B30	SNV	SYT10,missense_variant,p.Gln225Glu,ENST00000228567,;SYT10,missense_variant,p.Gln44Glu,ENST00000535526,;RP11-438D14.2,upstream_gene_variant,,ENST00000561632,;SYT10,downstream_gene_variant,,ENST00000567656,;SYT10,3_prime_UTR_variant,,ENST00000539102,;	970	96	118	SUCCESS
ACRBP	84519	.	GRCh37	12	6747504	6747504	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756765669	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	71	0	ENST00000229243.2:c.1576G>A	p.Val526Ile	p.V526I	ENST00000229243	NM_032489.2	526	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8554.1	1576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAACGTCCT	NONE	.	.	hmmpanther:PTHR21362,hmmpanther:PTHR21362:SF1	.	.	ENSP00000229243	.	10/10	.	.	.	.	.	.	.	.	rs756765669,COSM179534	10/10	PASS	ENST00000229243	Transcript	.	.	ENSG00000111644	17195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.6)	0,1	ACRBP_HUMAN	ACRBP	HGNC	.	.	UPI000006CCAA	SNV	ACRBP,missense_variant,p.Val526Ile,ENST00000229243,;ACRBP,missense_variant,p.Val493Ile,ENST00000414226,;LPAR5,upstream_gene_variant,,ENST00000329858,;ACRBP,non_coding_transcript_exon_variant,,ENST00000540513,;LPAR5,upstream_gene_variant,,ENST00000540335,;ACRBP,downstream_gene_variant,,ENST00000542357,;	1670	71	68	SUCCESS
ZDHHC17	23390	.	GRCh37	12	77199187	77199187	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	241	231	391	1	ENST00000426126.2:c.288G>T	p.Trp96Cys	p.W96C	ENST00000426126	NM_015336.2	96	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS44946.1	288	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGGGCTGC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000403397	.	3/17	.	.	.	.	.	.	.	.	COSM324384	3/17	PASS	ENST00000426126	Transcript	.	.	ENSG00000186908	18412	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	ZDH17_HUMAN	ZDHHC17	HGNC	A8KA01_HUMAN	.	UPI0000051F55	SNV	ZDHHC17,missense_variant,p.Trp96Cys,ENST00000426126,;ZDHHC17,missense_variant,p.Trp73Cys,ENST00000549682,;ZDHHC17,missense_variant,p.Trp96Cys,ENST00000334822,;ZDHHC17,missense_variant,p.Trp46Cys,ENST00000359019,;ZDHHC17,intron_variant,,ENST00000550876,;ZDHHC17,missense_variant,p.Trp37Cys,ENST00000549944,;ZDHHC17,missense_variant,p.Gly42Val,ENST00000550163,;ZDHHC17,missense_variant,p.Trp94Cys,ENST00000552453,;ZDHHC17,3_prime_UTR_variant,,ENST00000547620,;ZDHHC17,3_prime_UTR_variant,,ENST00000551407,;ZDHHC17,3_prime_UTR_variant,,ENST00000547604,;ZDHHC17,3_prime_UTR_variant,,ENST00000546778,;	937	393	472	SUCCESS
RASL11A	387496	.	GRCh37	13	27847361	27847361	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	97	248	0	ENST00000241463.4:c.459del	p.His153GlnfsTer13	p.H153Qfs*13	ENST00000241463	NM_206827.1	153	caT/ca	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS9321.1	459	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGCATGCCCG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,hmmpanther:PTHR24070:SF176,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000241463	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000241463	Transcript	.	.	ENSG00000122035	23802	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RSLBA_HUMAN	RASL11A	HGNC	.	.	UPI000013CAD1	deletion	RASL11A,frameshift_variant,p.His153GlnfsTer13,ENST00000241463,;RASL11A,non_coding_transcript_exon_variant,,ENST00000475647,;RASL11A,non_coding_transcript_exon_variant,,ENST00000480803,;	1077	248	255	SUCCESS
OR4K17	390436	.	GRCh37	14	20586326	20586326	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1432320250	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	7	60	0	ENST00000315543.4:c.761T>A	p.Ile254Lys	p.I254K	ENST00000315543	NM_001004715.1	254	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS32030.1	761	MUTECT|MUSE	.	CCTCATAACCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000319197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315543	Transcript	.	.	ENSG00000176230	15355	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	deleterious(0.01)	.	OR4KH_HUMAN	OR4K17	HGNC	.	.	UPI000004B1EA	SNV	OR4K17,missense_variant,p.Ile254Lys,ENST00000315543,;	761	60	152	SUCCESS
LRFN5	145581	.	GRCh37	14	42356105	42356105	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	53	167	1	ENST00000298119.4:c.277C>A	p.His93Asn	p.H93N	ENST00000298119	NM_152447.3	93	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS9678.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCATGCT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13306,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS51450	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	tolerated(0.25)	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.His93Asn,ENST00000298119,;LRFN5,missense_variant,p.His93Asn,ENST00000554120,;LRFN5,missense_variant,p.His93Asn,ENST00000554171,;	1466	168	255	SUCCESS
RDH12	145226	.	GRCh37	14	68189238	68189238	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	41	0	ENST00000267502.3:c.-122G>T		p.*41*	ENST00000267502				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9787.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGGAGAG	NONE	.	.	.	.	.	ENSP00000449079	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000551171	Transcript	.	.	ENSG00000139988	19977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDH12_HUMAN	RDH12	HGNC	.	.	UPI0000071827	SNV	RDH12,5_prime_UTR_variant,,ENST00000539142,;RDH12,5_prime_UTR_variant,,ENST00000551171,;RDH12,5_prime_UTR_variant,,ENST00000267502,;RDH12,downstream_gene_variant,,ENST00000547463,;ZFYVE26,downstream_gene_variant,,ENST00000394455,;RDH12,upstream_gene_variant,,ENST00000552873,;	203	41	61	SUCCESS
PATL2	197135	.	GRCh37	15	44964221	44964221	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	43	116	0	ENST00000434130.1:c.649T>C	p.Tyr217His	p.Y217H	ENST00000434130	NM_001145112.1	217	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS45253.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATAGTAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21551:SF3,hmmpanther:PTHR21551,Pfam_domain:PF09770	.	.	ENSP00000416673	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000434130	Transcript	.	.	ENSG00000229474	33630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PATL2_HUMAN	PATL2	HGNC	H0YMQ2_HUMAN	.	UPI00006C1508	SNV	PATL2,missense_variant,p.Tyr28His,ENST00000560780,;PATL2,missense_variant,p.Tyr217His,ENST00000560775,;PATL2,missense_variant,p.Tyr217His,ENST00000434130,;PATL2,upstream_gene_variant,,ENST00000558809,;PATL2,downstream_gene_variant,,ENST00000560110,;PATL2,downstream_gene_variant,,ENST00000558573,;PATL2,3_prime_UTR_variant,,ENST00000558481,;PATL2,upstream_gene_variant,,ENST00000561082,;	747	116	70	SUCCESS
MORF4L1	10933	.	GRCh37	15	79165284	79165284	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	74	0	ENST00000331268.5:c.-76G>A		p.*26*	ENST00000331268	NM_206839.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10307.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCGGAGTTG	NONE	.	.	.	.	.	ENSP00000331310	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000331268	Transcript	.	.	ENSG00000185787	16989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MO4L1_HUMAN	MORF4L1	HGNC	H0YNX3_HUMAN,H0YNI8_HUMAN,H0YMT8_HUMAN,H0YM21_HUMAN,H0YLV1_HUMAN	.	UPI000000D82F	SNV	MORF4L1,5_prime_UTR_variant,,ENST00000426013,;MORF4L1,5_prime_UTR_variant,,ENST00000559930,;MORF4L1,5_prime_UTR_variant,,ENST00000331268,;MORF4L1,intron_variant,,ENST00000379535,;MORF4L1,upstream_gene_variant,,ENST00000560422,;MORF4L1,upstream_gene_variant,,ENST00000558746,;MORF4L1,upstream_gene_variant,,ENST00000559158,;MORF4L1,upstream_gene_variant,,ENST00000559345,;MORF4L1,upstream_gene_variant,,ENST00000558830,;MORF4L1,upstream_gene_variant,,ENST00000559244,;MORF4L1,upstream_gene_variant,,ENST00000558502,;MORF4L1,upstream_gene_variant,,ENST00000559690,;MORF4L1,intron_variant,,ENST00000559697,;MORF4L1,upstream_gene_variant,,ENST00000561171,;MORF4L1,upstream_gene_variant,,ENST00000558539,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000557961,;MORF4L1,upstream_gene_variant,,ENST00000558522,;MORF4L1,upstream_gene_variant,,ENST00000559258,;MORF4L1,upstream_gene_variant,,ENST00000559619,;MORF4L1,upstream_gene_variant,,ENST00000558893,;	129	74	61	SUCCESS
PDE8A	5151	.	GRCh37	15	85652345	85652345	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	223	312	0	ENST00000310298.4:c.1098C>T	p.Ala366=	p.A366=	ENST00000310298		366	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10336.1	1098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCCTCCCG	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347	.	.	ENSP00000311453	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,synonymous_variant,p.%3D,ENST00000394553,;PDE8A,synonymous_variant,p.%3D,ENST00000339708,;PDE8A,synonymous_variant,p.%3D,ENST00000310298,;PDE8A,synonymous_variant,p.%3D,ENST00000557957,;PDE8A,non_coding_transcript_exon_variant,,ENST00000557819,;PDE8A,3_prime_UTR_variant,,ENST00000559086,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000557954,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000558543,;	1350	312	317	SUCCESS
MCTP2	55784	.	GRCh37	15	94901809	94901809	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs534609623	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	79	151	0	ENST00000357742.4:c.1269G>T	p.Lys423Asn	p.K423N	ENST00000357742	NM_018349.3	423	aaG/aaT	0	.	A:0	.	A:0	.	T	K/N	protein_coding	YES	CCDS32338.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGGACAA	NONE	by1000G	.	PROSITE_profiles:PS50004,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	A:0	.	ENSP00000350377	A:0.001	9/22	.	.	.	.	.	.	.	.	rs534609623	9/22	PASS	ENST00000357742	Transcript	1	A:0.0002	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	A:0	deleterious(0)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Lys11Asn,ENST00000557742,;MCTP2,missense_variant,p.Lys11Asn,ENST00000331706,;MCTP2,missense_variant,p.Lys423Asn,ENST00000357742,;MCTP2,missense_variant,p.Lys423Asn,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000543482,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;	1269	151	130	SUCCESS
GGA2	23062	.	GRCh37	16	23486224	23486224	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	188	378	1	ENST00000309859.4:c.1450+1G>C		p.X484_splice	ENST00000309859	NM_015044.4	484		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10611.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACTGGGC	NONE	.	.	.	.	.	ENSP00000311962	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309859	Transcript	.	.	ENSG00000103365	16064	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGA2_HUMAN	GGA2	HGNC	H3BMN6_HUMAN	.	UPI000013EF46	SNV	GGA2,splice_donor_variant,,ENST00000309859,;GGA2,intron_variant,,ENST00000567468,;GGA2,downstream_gene_variant,,ENST00000569182,;	.	379	288	SUCCESS
FTO	79068	.	GRCh37	16	53737983	53737983	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	27	73	0	ENST00000471389.1:c.-114A>G		p.*38*	ENST00000471389	NM_001080432.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32448.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGAGGGAG	NONE	.	.	.	.	.	ENSP00000418823	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000471389	Transcript	.	.	ENSG00000140718	24678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FTO_HUMAN	FTO	HGNC	B4DHN4_HUMAN	.	UPI000013D7B3	SNV	FTO,5_prime_UTR_variant,,ENST00000471389,;RPGRIP1L,upstream_gene_variant,,ENST00000562230,;RPGRIP1L,upstream_gene_variant,,ENST00000563746,;RPGRIP1L,upstream_gene_variant,,ENST00000569716,;RPGRIP1L,upstream_gene_variant,,ENST00000379925,;FTO,upstream_gene_variant,,ENST00000394647,;RPGRIP1L,upstream_gene_variant,,ENST00000562588,;RPGRIP1L,upstream_gene_variant,,ENST00000568653,;RPGRIP1L,upstream_gene_variant,,ENST00000262135,;RPGRIP1L,upstream_gene_variant,,ENST00000564374,;RPGRIP1L,upstream_gene_variant,,ENST00000566096,;FTO,upstream_gene_variant,,ENST00000570395,;FTO,upstream_gene_variant,,ENST00000464071,;	109	74	50	SUCCESS
SF3B3	23450	.	GRCh37	16	70601427	70601427	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	73	150	0	ENST00000302516.5:c.2940A>T	p.Lys980Asn	p.K980N	ENST00000302516	NM_012426.4	980	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS10894.1	2940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAATGTGA	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Pfam_domain:PF03178,Superfamily_domains:SSF50978	.	.	ENSP00000305790	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,missense_variant,p.Lys980Asn,ENST00000302516,;SF3B3,non_coding_transcript_exon_variant,,ENST00000563739,;SF3B3,downstream_gene_variant,,ENST00000562722,;SF3B3,upstream_gene_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000568539,;	3151	151	109	SUCCESS
WDR90	197335	.	GRCh37	16	706396	706396	+	synonymous_variant	Silent	SNP	G	G	A	rs577796944	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	84	0	ENST00000293879.4:c.2061G>A	p.Thr687=	p.T687=	ENST00000293879		687	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42092.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGCTGTC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF10,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Pfam_domain:PF11715,Superfamily_domains:SSF50978	.	.	ENSP00000293879	.	18/41	.	.	.	.	.	.	.	.	rs577796944	18/41	PASS	ENST00000293879	Transcript	.	.	ENSG00000161996	26960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,synonymous_variant,p.%3D,ENST00000549091,;WDR90,synonymous_variant,p.%3D,ENST00000293879,;WDR90,upstream_gene_variant,,ENST00000550739,;LA16c-349E10.1,upstream_gene_variant,,ENST00000573609,;WDR90,non_coding_transcript_exon_variant,,ENST00000552648,;WDR90,upstream_gene_variant,,ENST00000548844,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,downstream_gene_variant,,ENST00000549648,;WDR90,downstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000552683,;WDR90,upstream_gene_variant,,ENST00000548859,;WDR90,upstream_gene_variant,,ENST00000552728,;	2061	84	70	SUCCESS
ZNF286B	729288	.	GRCh37	17	18565670	18565670	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	74	148	0	ENST00000545289.1:c.1149T>C	p.Tyr383=	p.Y383=	ENST00000545289	NM_001145045.1	383	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS58523.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTATAAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF217,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000461413	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000545289	Transcript	.	.	ENSG00000249459	33241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z286B_HUMAN	ZNF286B	HGNC	J3KS91_HUMAN	.	UPI000192A2F2	SNV	ZNF286B,synonymous_variant,p.%3D,ENST00000545289,;ZNF286B,3_prime_UTR_variant,,ENST00000285274,;TBC1D28,upstream_gene_variant,,ENST00000570881,;	1400	148	134	SUCCESS
LGALS9B	284194	.	GRCh37	17	20358627	20358627	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs999199761	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	149	345	0	ENST00000423676.3:c.529C>A	p.Arg177Ser	p.R177S	ENST00000423676		177	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS42283.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCGCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346	.	.	ENSP00000315564	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000324290	Transcript	.	.	ENSG00000170298	24842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.456)	.	tolerated(0.12)	.	LEG9B_HUMAN	LGALS9B	HGNC	.	.	UPI00001AF401	SNV	LGALS9B,missense_variant,p.Arg177Ser,ENST00000423676,;LGALS9B,missense_variant,p.Arg177Ser,ENST00000324290,;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,upstream_gene_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000584703,;LGALS9B,upstream_gene_variant,,ENST00000581490,;	594	345	222	SUCCESS
TMEM132E	124842	.	GRCh37	17	32953981	32953981	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	81	0	ENST00000321639.5:c.633G>A	p.Arg211=	p.R211=	ENST00000321639	NM_207313.1	211	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11283.1	633	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACCGGCCCCT	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,synonymous_variant,p.%3D,ENST00000321639,;	961	81	73	SUCCESS
KRT38	8687	.	GRCh37	17	39597054	39597054	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	34	120	0	ENST00000246646.3:c.120T>C	p.Ile40=	p.I40=	ENST00000246646	NM_006771.3	40	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS11392.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAATGTT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	.	.	ENSP00000246646	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,synonymous_variant,p.%3D,ENST00000246646,;	120	120	132	SUCCESS
KLHL11	55175	.	GRCh37	17	40021606	40021606	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	16	0	ENST00000319121.3:c.18G>A	p.Val6=	p.V6=	ENST00000319121	NM_018143.1	6	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11411.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCACTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000314608	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000319121	Transcript	.	.	ENSG00000178502	19008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH11_HUMAN	KLHL11	HGNC	.	.	UPI00000719F8	SNV	KLHL11,synonymous_variant,p.%3D,ENST00000319121,;ACLY,downstream_gene_variant,,ENST00000353196,;ACLY,downstream_gene_variant,,ENST00000590151,;ACLY,downstream_gene_variant,,ENST00000352035,;ACLY,downstream_gene_variant,,ENST00000537919,;ACLY,downstream_gene_variant,,ENST00000393896,;ACLY,downstream_gene_variant,,ENST00000588779,;	79	16	22	SUCCESS
HDAC5	10014	.	GRCh37	17	42157529	42157529	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	55	0	ENST00000586802.1:c.2890G>C	p.Asp964His	p.D964H	ENST00000586802		964	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS32663.1	2893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCAAACC	NONE	.	.	hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF57,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768,Prints_domain:PR01270	.	.	ENSP00000225983	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000225983	Transcript	.	.	ENSG00000108840	14068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HDAC5_HUMAN	HDAC5	HGNC	K7EJZ7_HUMAN,K7EJL6_HUMAN	.	UPI0000508BBA	SNV	HDAC5,missense_variant,p.Asp964His,ENST00000393622,;HDAC5,missense_variant,p.Asp965His,ENST00000225983,;HDAC5,missense_variant,p.Asp964His,ENST00000586802,;HDAC5,missense_variant,p.Asp879His,ENST00000336057,;G6PC3,downstream_gene_variant,,ENST00000590253,;G6PC3,downstream_gene_variant,,ENST00000269097,;G6PC3,downstream_gene_variant,,ENST00000591696,;G6PC3,downstream_gene_variant,,ENST00000585361,;HDAC5,downstream_gene_variant,,ENST00000588419,;G6PC3,downstream_gene_variant,,ENST00000588558,;HDAC5,downstream_gene_variant,,ENST00000593013,;G6PC3,downstream_gene_variant,,ENST00000590639,;HDAC5,downstream_gene_variant,,ENST00000592385,;HDAC5,upstream_gene_variant,,ENST00000586339,;	3217	55	61	SUCCESS
CACNA1G	8913	.	GRCh37	17	48687257	48687257	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368939625	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	29	0	ENST00000359106.5:c.4720G>T	p.Asp1574Tyr	p.D1574Y	ENST00000359106	NM_018896.4	1574	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS45730.1	4720	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACGATGTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137	.	.	ENSP00000352011	.	26/38	.	.	.	.	.	.	.	.	.	26/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.738)	.	tolerated(0.64)	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,missense_variant,p.Asp1574Tyr,ENST00000515165,;CACNA1G,missense_variant,p.Asp1551Tyr,ENST00000360761,;CACNA1G,missense_variant,p.Asp1574Tyr,ENST00000507510,;CACNA1G,missense_variant,p.Asp1517Tyr,ENST00000514717,;CACNA1G,missense_variant,p.Asp1574Tyr,ENST00000359106,;CACNA1G,missense_variant,p.Asp1551Tyr,ENST00000502264,;CACNA1G,missense_variant,p.Asp1574Tyr,ENST00000505165,;CACNA1G,missense_variant,p.Asp1581Tyr,ENST00000514079,;CACNA1G,missense_variant,p.Asp1574Tyr,ENST00000507609,;CACNA1G,missense_variant,p.Asp1540Tyr,ENST00000503485,;CACNA1G,intron_variant,,ENST00000358244,;CACNA1G,intron_variant,,ENST00000354983,;CACNA1G,intron_variant,,ENST00000513689,;CACNA1G,intron_variant,,ENST00000442258,;CACNA1G,intron_variant,,ENST00000513964,;CACNA1G,intron_variant,,ENST00000515765,;CACNA1G,intron_variant,,ENST00000514181,;CACNA1G,intron_variant,,ENST00000352832,;CACNA1G,intron_variant,,ENST00000507336,;CACNA1G,intron_variant,,ENST00000510366,;CACNA1G,intron_variant,,ENST00000510115,;CACNA1G,intron_variant,,ENST00000429973,;CACNA1G,intron_variant,,ENST00000512389,;CACNA1G,intron_variant,,ENST00000507896,;CACNA1G,intron_variant,,ENST00000515411,;CACNA1G,downstream_gene_variant,,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000506520,;CACNA1G,missense_variant,p.Asp1551Tyr,ENST00000511768,;CACNA1G,missense_variant,p.Asp1551Tyr,ENST00000503436,;CACNA1G,missense_variant,p.Asp1574Tyr,ENST00000506406,;CACNA1G,intron_variant,,ENST00000504076,;CACNA1G,intron_variant,,ENST00000511765,;CACNA1G,intron_variant,,ENST00000503607,;	4720	29	15	SUCCESS
ACE	1636	.	GRCh37	17	61568652	61568652	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	54	0	ENST00000290866.4:c.2822G>A	p.Trp941Ter	p.W941*	ENST00000290866	NM_000789.3	941	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS11637.1	2822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGGAACA	NONE	.	.	hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	.	.	ENSP00000290866	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000290866	Transcript	.	.	ENSG00000159640	2707	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACE_HUMAN	ACE	HGNC	Q3KRI5_HUMAN,D3DU13_HUMAN	.	UPI000002B8AD	SNV	ACE,stop_gained,p.Trp367Ter,ENST00000490216,;ACE,stop_gained,p.Trp941Ter,ENST00000428043,;ACE,stop_gained,p.Trp941Ter,ENST00000290866,;ACE,stop_gained,p.Trp197Ter,ENST00000582761,;ACE,stop_gained,p.Trp367Ter,ENST00000290863,;ACE,stop_gained,p.Trp367Ter,ENST00000413513,;ACE,stop_gained,p.Trp187Ter,ENST00000421982,;ACE,upstream_gene_variant,,ENST00000579409,;ACE,intron_variant,,ENST00000577418,;ACE,stop_gained,p.Trp367Ter,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,non_coding_transcript_exon_variant,,ENST00000584865,;ACE,non_coding_transcript_exon_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000582005,;ACE,upstream_gene_variant,,ENST00000582244,;ACE,downstream_gene_variant,,ENST00000579204,;ACE,downstream_gene_variant,,ENST00000579726,;ACE,upstream_gene_variant,,ENST00000578679,;	2846	54	79	SUCCESS
ERN1	2081	.	GRCh37	17	62135324	62135324	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	93	0	ENST00000433197.3:c.1236A>C	p.Glu412Asp	p.E412D	ENST00000433197	NM_001433.3	412	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS45762.1	1236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTTTTCTGA	NONE	.	.	hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954	.	.	ENSP00000401445	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000433197	Transcript	.	.	ENSG00000178607	3449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	ERN1_HUMAN	ERN1	HGNC	.	.	UPI0000201263	SNV	ERN1,missense_variant,p.Glu412Asp,ENST00000433197,;ERN1,upstream_gene_variant,,ENST00000583077,;ERN1,downstream_gene_variant,,ENST00000583896,;	1332	93	69	SUCCESS
TP53	7157	.	GRCh37	17	7577547	7577547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121912656	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	56	118	0	ENST00000269305.4:c.734G>A	p.Gly245Asp	p.G245D	ENST00000269305	NM_001126112.2	245	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11118.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TCATGCCGCCC	SITE|p.G245D|c.734G>A|10,SITE|p.G245D|c.734G>A|23,SITE|p.G152D|c.455G>A|23,SITE|p.G245D|c.734G>A|23,SITE|p.G245D|c.734G>A|119,SITE|p.G245D|c.734G>A|7,CODON|p.0?|c.1_1182del1182|6,CODON|p.G245G|c.735C>T|5,CODON|p.G245V|c.734G>T|3,CODON|p.G245A|c.734G>C|8,CODON|p.G152V|c.455G>T|15,CODON|p.G245V|c.734G>T|10,CODON|p.G245V|c.734G>T|15,CODON|p.G245V|c.734G>T|69,CODON|p.G245V|c.734G>T|15,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6,BUFFER|p.G244fs*3|c.730delG|4,BUFFER|p.G151D|c.452G>A|8,BUFFER|p.G244D|c.731G>A|42,BUFFER|p.G244D|c.731G>A|3,BUFFER|p.G244D|c.731G>A|8,BUFFER|p.G244A|c.731G>C|8,BUFFER|p.G244D|c.731G>A|8,BUFFER|p.G244V|c.731G>T|15,BUFFER|p.G244C|c.730G>T|43,BUFFER|p.G244S|c.730G>A|6,BUFFER|p.G244C|c.730G>T|3,BUFFER|p.G244S|c.730G>A|5,BUFFER|p.G244C|c.730G>T|9,BUFFER|p.G244R|c.730G>C|5,BUFFER|p.G244C|c.730G>T|9,BUFFER|p.G244S|c.730G>A|9,BUFFER|p.G244S|c.730G>A|42,BUFFER|p.G151C|c.451G>T|9,BUFFER|p.G151S|c.451G>A|9,BUFFER|p.G244S|c.730G>A|8,BUFFER|p.G244C|c.730G>T|6,BUFFER|p.M243I|c.729G>A|5,BUFFER|p.M243T|c.728T>C|5,BUFFER|p.N239_C242delNSSC|c.715_726del12|3,BUFFER|p.M243L|c.727A>C|4,BUFFER|p.M243V|c.727A>G|3,BUFFER|p.M243L|c.727A>T|6,BUFFER|p.C242W|c.726C>G|3,BUFFER|p.C242*|c.726C>A|3,BUFFER|p.C242W|c.726C>G|3,BUFFER|p.C242W|c.726C>G|9,BUFFER|p.C149W|c.447C>G|3,BUFFER|p.C242S|c.725G>C|3,BUFFER|p.C242Y|c.725G>A|4,BUFFER|p.C242S|c.725G>C|4,BUFFER|p.C242Y|c.725G>A|42,BUFFER|p.C242Y|c.725G>A|4,BUFFER|p.C242F|c.725G>T|11,BUFFER|p.C149Y|c.446G>A|4,BUFFER|p.C242F|c.725G>T|11,BUFFER|p.C242S|c.725G>C|3,BUFFER|p.C242F|c.725G>T|71,BUFFER|p.C149S|c.446G>C|4,BUFFER|p.C149F|c.446G>T|11,BUFFER|p.C242F|c.725G>T|4,BUFFER|p.C242S|c.725G>C|20,BUFFER|p.C242S|c.725G>C|4,BUFFER|p.C242fs*5|c.723delC|5,BUFFER|p.C149fs*5|c.444delC|5,BUFFER|p.C242fs*5|c.723delC|12,BUFFER|p.S241delS|c.721_723delTCC|3,BUFFER|p.C242fs*5|c.723delC|5,BUFFER|p.S241F|c.722_723CC>TT|5,BUFFER|p.C242G|c.724T>G|6,BUFFER|p.C242G|c.724T>G|3,BUFFER|p.C242G|c.724T>G|3,BUFFER|p.C149G|c.445T>G|3,BUFFER|p.C242S|c.724T>A|11,BUFFER|p.C242G|c.724T>G|3,BUFFER|p.C242G|c.724T>G|3,BUFFER|p.C242R|c.724T>C|12,BUFFER|p.C242fs*5|c.722delC|6	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	CM010464,CM900209,rs121912656,TP53_g.13371G>C,TP53_g.13371del,TP53_g.13371G>A,TP53_g.13371G>T,COSM43606,COSM11196,COSM43965,COSM45770,COSM179806,COSM131475,COSM3388184,COSM179805,COSM3388187,COSM131476,COSM3388189,COSM3717638,COSM3388186,COSM1640832,COSM3388185,COSM1646856,COSM179807,COSM131477,COSM3388188	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Gly245Asp,ENST00000413465,;TP53,missense_variant,p.Gly245Asp,ENST00000420246,;TP53,missense_variant,p.Gly245Asp,ENST00000269305,;TP53,missense_variant,p.Gly113Asp,ENST00000509690,;TP53,missense_variant,p.Gly245Asp,ENST00000359597,;TP53,missense_variant,p.Gly152Asp,ENST00000514944,;TP53,missense_variant,p.Gly245Asp,ENST00000445888,;TP53,missense_variant,p.Gly245Asp,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	924	118	96	SUCCESS
CANT1	124583	.	GRCh37	17	76993228	76993228	+	synonymous_variant	Silent	SNP	C	C	T	rs149367726	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	107	0	ENST00000302345.2:c.477G>A	p.Ala159=	p.A159=	ENST00000302345	NM_001159773.1	159	gcG/gcA	0	T:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS11760.1	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCGCCAG	NONE	byCluster	.	hmmpanther:PTHR13023:SF3,hmmpanther:PTHR13023,Pfam_domain:PF06079,Superfamily_domains:0049295	.	T:0	ENSP00000307674	.	2/4	.	.	.	.	.	.	.	.	rs149367726	2/4	PASS	ENST00000302345	Transcript	.	.	ENSG00000171302	19721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CANT1_HUMAN	CANT1	HGNC	K7EQT4_HUMAN,K7EMT2_HUMAN,K7EKT2_HUMAN,K7EIP9_HUMAN	.	UPI00000734F8	SNV	CANT1,missense_variant,p.Gly106Arg,ENST00000588611,;CANT1,synonymous_variant,p.%3D,ENST00000302345,;CANT1,synonymous_variant,p.%3D,ENST00000591773,;CANT1,synonymous_variant,p.%3D,ENST00000392446,;CANT1,downstream_gene_variant,,ENST00000591625,;CANT1,downstream_gene_variant,,ENST00000586916,;CANT1,downstream_gene_variant,,ENST00000588075,;CANT1,downstream_gene_variant,,ENST00000592033,;CANT1,downstream_gene_variant,,ENST00000590370,;CANT1,downstream_gene_variant,,ENST00000591811,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,downstream_gene_variant,,ENST00000592887,;CANT1,synonymous_variant,p.%3D,ENST00000592228,;CANT1,upstream_gene_variant,,ENST00000588096,;	972	107	107	SUCCESS
MEX3C	51320	.	GRCh37	18	48703513	48703513	+	synonymous_variant	Silent	SNP	T	T	A	rs140545981	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	34	40	0	ENST00000406189.3:c.1188A>T	p.Gly396=	p.G396=	ENST00000406189	NM_016626.4	396	ggA/ggT	0	A:0	.	.	.	.	A	G	protein_coding	YES	CCDS11951.2	1188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTTCCTGT	NONE	byCluster	.	hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF4,Superfamily_domains:SSF54791	.	A:0.0001	ENSP00000385610	.	2/2	.	.	.	.	.	.	.	.	rs140545981	2/2	PASS	ENST00000406189	Transcript	.	.	ENSG00000176624	28040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEX3C_HUMAN	MEX3C	HGNC	B3KTW5_HUMAN,B2R538_HUMAN	.	UPI00005956CD	SNV	MEX3C,synonymous_variant,p.%3D,ENST00000406189,;MEX3C,non_coding_transcript_exon_variant,,ENST00000591040,;	1188	40	70	SUCCESS
C19orf44	84167	.	GRCh37	19	16612032	16612032	+	synonymous_variant	Silent	SNP	G	G	A	rs141306136	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	37	128	1	ENST00000221671.3:c.429G>A	p.Ala143=	p.A143=	ENST00000221671	NM_032207.2	143	gcG/gcA	0	A:0.0111	A:0.0151	.	A:0.0029	.	A	A	protein_coding	YES	CCDS12345.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCGTCCCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22409:SF2,hmmpanther:PTHR22409	A:0	A:0	ENSP00000221671	A:0	2/9	.	.	.	.	.	.	.	.	rs141306136,COSM992469	2/9	common_in_exac	ENST00000221671	Transcript	.	A:0.0044	ENSG00000105072	26141	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	CS044_HUMAN	C19orf44	HGNC	M0R1E2_HUMAN,M0QXR9_HUMAN,B4DN63_HUMAN	.	UPI0000070DFC	SNV	C19orf44,synonymous_variant,p.%3D,ENST00000594035,;C19orf44,synonymous_variant,p.%3D,ENST00000221671,;C19orf44,downstream_gene_variant,,ENST00000594813,;C19orf44,downstream_gene_variant,,ENST00000599550,;C19orf44,synonymous_variant,p.%3D,ENST00000596592,;C19orf44,synonymous_variant,p.%3D,ENST00000593380,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	585	129	183	SUCCESS
CRTC1	23373	.	GRCh37	19	18870874	18870874	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	45	222	0	ENST00000321949.8:c.722A>T	p.Asn241Ile	p.N241I	ENST00000321949	NM_015321.2	241	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS42525.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAACACAG	NONE	.	.	hmmpanther:PTHR13589:SF14,hmmpanther:PTHR13589,Pfam_domain:PF12885	.	.	ENSP00000345001	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000338797	Transcript	.	.	ENSG00000105662	16062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.331)	.	deleterious(0.01)	.	CRTC1_HUMAN	CRTC1	HGNC	.	.	UPI00001D9A88	SNV	CRTC1,missense_variant,p.Asn257Ile,ENST00000338797,;CRTC1,missense_variant,p.Asn166Ile,ENST00000601916,;CRTC1,missense_variant,p.Asn200Ile,ENST00000594658,;CRTC1,missense_variant,p.Asn241Ile,ENST00000321949,;	795	222	209	SUCCESS
APBA3	9546	.	GRCh37	19	3759745	3759745	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	105	0	ENST00000316757.3:c.518A>C	p.Glu173Ala	p.E173A	ENST00000316757	NM_004886.3	173	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS12110.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTTCCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF9	.	.	ENSP00000315136	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000316757	Transcript	.	.	ENSG00000011132	580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.03)	.	APBA3_HUMAN	APBA3	HGNC	Q9UPY9_HUMAN	.	UPI0000125C0D	SNV	APBA3,missense_variant,p.Glu173Ala,ENST00000316757,;MRPL54,upstream_gene_variant,,ENST00000589174,;MRPL54,upstream_gene_variant,,ENST00000330133,;AC005954.4,downstream_gene_variant,,ENST00000586503,;AC005954.3,upstream_gene_variant,,ENST00000591962,;APBA3,non_coding_transcript_exon_variant,,ENST00000590238,;APBA3,non_coding_transcript_exon_variant,,ENST00000589934,;APBA3,upstream_gene_variant,,ENST00000588984,;APBA3,upstream_gene_variant,,ENST00000590064,;	719	105	83	SUCCESS
MIR637	693222	.	GRCh37	19	3961436	3961436	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	19	95	0	ENST00000385000.1:n.75G>A		p.*25*	ENST00000385000				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12116.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCCGAAA	NONE	.	.	.	.	.	ENSP00000442973	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545797	Transcript	.	.	ENSG00000167657	2676	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAPK3_HUMAN	DAPK3	HGNC	M0R0D0_HUMAN,M0QYW5_HUMAN	.	UPI000006F7FA	SNV	DAPK3,intron_variant,,ENST00000545797,;DAPK3,intron_variant,,ENST00000301264,;DAPK3,downstream_gene_variant,,ENST00000596311,;DAPK3,downstream_gene_variant,,ENST00000593844,;DAPK3,downstream_gene_variant,,ENST00000601824,;DAPK3,upstream_gene_variant,,ENST00000594894,;MIR637,mature_miRNA_variant,,ENST00000385000,;DAPK3,non_coding_transcript_exon_variant,,ENST00000595279,;	.	95	109	SUCCESS
PPP5C	5536	.	GRCh37	19	46893387	46893387	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	104	0	ENST00000012443.4:c.1435G>C	p.Val479Leu	p.V479L	ENST00000012443	NM_006247.3	479	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS12684.1	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGTGGTG	NONE	.	.	hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Gene3D:3.60.21.10,SMART_domains:SM00156,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300	.	.	ENSP00000012443	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	deleterious(0.01)	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,missense_variant,p.Val351Leu,ENST00000391919,;PPP5C,missense_variant,p.Val479Leu,ENST00000012443,;AC007193.8,downstream_gene_variant,,ENST00000598616,;PPP5C,missense_variant,p.Val478Leu,ENST00000478046,;PPP5C,splice_region_variant,,ENST00000527623,;PPP5C,splice_region_variant,,ENST00000525507,;PPP5C,splice_region_variant,,ENST00000486994,;PPP5C,non_coding_transcript_exon_variant,,ENST00000491003,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,downstream_gene_variant,,ENST00000492109,;PPP5C,downstream_gene_variant,,ENST00000493347,;PPP5C,downstream_gene_variant,,ENST00000467502,;	1538	104	122	SUCCESS
SLC8A2	6543	.	GRCh37	19	47960453	47960453	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	83	0	ENST00000236877.6:c.1074G>A	p.Thr358=	p.T358=	ENST00000236877	NM_015063.2	358	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33065.1	1074	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGCGTGGC	NONE	.	.	TIGRFAM_domain:TIGR00845,hmmpanther:PTHR11878	.	.	ENSP00000236877	.	3/10	.	.	.	.	.	.	.	.	COSM1394905	3/10	PASS	ENST00000236877	Transcript	.	.	ENSG00000118160	11069	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	NAC2_HUMAN	SLC8A2	HGNC	M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN	.	UPI000012FC49	SNV	SLC8A2,synonymous_variant,p.%3D,ENST00000542837,;SLC8A2,synonymous_variant,p.%3D,ENST00000236877,;SLC8A2,intron_variant,,ENST00000539381,;SLC8A2,downstream_gene_variant,,ENST00000594353,;	1470	83	60	SUCCESS
PTBP1	5725	.	GRCh37	19	806459	806459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375905582	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	53	182	0	ENST00000349038.4:c.944C>T	p.Ser315Leu	p.S315L	ENST00000349038	NM_031991.3	315	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS42456.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF17,TIGRFAM_domain:TIGR01649	.	.	ENSP00000349428	.	10/15	.	.	.	.	.	.	.	.	rs375905582	10/15	PASS	ENST00000356948	Transcript	.	.	ENSG00000011304	9583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.25)	.	PTBP1_HUMAN	PTBP1	HGNC	.	.	UPI00000720B7	SNV	PTBP1,missense_variant,p.Ser315Leu,ENST00000349038,;PTBP1,missense_variant,p.Ser166Leu,ENST00000585956,;PTBP1,missense_variant,p.Ser334Leu,ENST00000394601,;PTBP1,missense_variant,p.Ser341Leu,ENST00000356948,;PTBP1,intron_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000589575,;PTBP1,downstream_gene_variant,,ENST00000586481,;PTBP1,downstream_gene_variant,,ENST00000585535,;PTBP1,downstream_gene_variant,,ENST00000587094,;MIR4745,downstream_gene_variant,,ENST00000577608,;PTBP1,non_coding_transcript_exon_variant,,ENST00000589883,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000587136,;PTBP1,intron_variant,,ENST00000587191,;PTBP1,upstream_gene_variant,,ENST00000585932,;PTBP1,downstream_gene_variant,,ENST00000589569,;PTBP1,downstream_gene_variant,,ENST00000592804,;PTBP1,upstream_gene_variant,,ENST00000589770,;PTBP1,downstream_gene_variant,,ENST00000592113,;PTBP1,upstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000590887,;	1445	182	188	SUCCESS
MUC16	94025	.	GRCh37	19	9074291	9074291	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	12	98	0	ENST00000397910.4:c.13155G>T	p.Val4385=	p.V4385=	ENST00000397910	NM_024690.2	4385	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54212.1	13155	MUTECT|MUSE|VARSCANS	.	ATGGTCACTCC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	13359	98	145	SUCCESS
CADM3	57863	.	GRCh37	1	159141439	159141439	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	16	0	ENST00000368125.4:c.-117C>A		p.*39*	ENST00000368125	NM_001127173.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1182.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCCGAAG	NONE	.	.	.	.	.	ENSP00000357106	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000368124	Transcript	.	.	ENSG00000162706	17601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CADM3_HUMAN	CADM3	HGNC	.	.	UPI000006E8A2	SNV	CADM3,5_prime_UTR_variant,,ENST00000368124,;CADM3,5_prime_UTR_variant,,ENST00000368125,;CADM3,upstream_gene_variant,,ENST00000416746,;	41	16	24	SUCCESS
APCS	325	.	GRCh37	1	159558023	159558023	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	51	48	0	ENST00000255040.2:c.197A>G	p.Tyr66Cys	p.Y66C	ENST00000255040	NM_001639.3	66	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1186.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTACAGCC	NONE	.	.	hmmpanther:PTHR19277:SF99,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000255040	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000255040	Transcript	.	.	ENSG00000132703	584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SAMP_HUMAN	APCS	HGNC	.	.	UPI0000135533	SNV	APCS,missense_variant,p.Tyr66Cys,ENST00000255040,;	294	48	159	SUCCESS
CCDC19	0	.	GRCh37	1	159854288	159854288	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753278916	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	41	0	ENST00000368099.4:c.835C>T	p.Arg279Trp	p.R279W	ENST00000368099	NM_012337.2	279	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS30914.1	835	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGCTGCT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15504,Pfam_domain:PF13868	.	.	ENSP00000357079	.	7/12	.	.	.	.	.	.	.	.	rs753278916	7/12	PASS	ENST00000368099	Transcript	.	.	ENSG00000213085	17229	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	CCD19_HUMAN	CCDC19	HGNC	Q05BA3_HUMAN	.	UPI000006F653	SNV	CCDC19,missense_variant,p.Arg194Trp,ENST00000426543,;CCDC19,missense_variant,p.Arg279Trp,ENST00000368099,;CCDC19,non_coding_transcript_exon_variant,,ENST00000476696,;CCDC19,downstream_gene_variant,,ENST00000479940,;CCDC19,upstream_gene_variant,,ENST00000475911,;	900	41	52	SUCCESS
NCSTN	23385	.	GRCh37	1	160321028	160321028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	70	168	0	ENST00000294785.5:c.599A>G	p.Asn200Ser	p.N200S	ENST00000294785	NM_015331.2	200	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS1203.1	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAACCTGA	NONE	.	.	hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092,Superfamily_domains:SSF53187	.	.	ENSP00000294785	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000294785	Transcript	.	.	ENSG00000162736	17091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NICA_HUMAN	NCSTN	HGNC	E7ENA9_HUMAN	.	UPI0000042050	SNV	NCSTN,missense_variant,p.Asn200Ser,ENST00000294785,;NCSTN,missense_variant,p.Asn180Ser,ENST00000368063,;NCSTN,missense_variant,p.Asn180Ser,ENST00000392212,;NCSTN,intron_variant,,ENST00000535857,;NCSTN,intron_variant,,ENST00000368065,;NCSTN,intron_variant,,ENST00000424645,;NCSTN,intron_variant,,ENST00000421914,;NCSTN,upstream_gene_variant,,ENST00000424754,;NCSTN,downstream_gene_variant,,ENST00000437169,;NCSTN,upstream_gene_variant,,ENST00000435149,;NCSTN,downstream_gene_variant,,ENST00000438008,;NCSTN,intron_variant,,ENST00000459963,;NCSTN,upstream_gene_variant,,ENST00000491390,;NCSTN,downstream_gene_variant,,ENST00000491332,;NCSTN,downstream_gene_variant,,ENST00000467837,;	724	168	257	SUCCESS
LINC00862	554279	.	GRCh37	1	200337912	200337942	+	non_coding_transcript_exon_variant	RNA	DEL	CGTAAAAAGATGAAGCTCAGAGCAGGTGCAG	CGTAAAAAGATGAAGCTCAGAGCAGGTGCAG	-	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	CGTAAAAAGATGAAGCTCAGAGCAGGTGCAG	CGTAAAAAGATGAAGCTCAGAGCAGGTGCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	89	29	81	0	ENST00000367355.1:n.401_431del		p.*134*	ENST00000367355				0	.	.	.	.	.	-	.	lincRNA	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTCTTCGTAAAAAGATGAAGCTCAGAGCAGGTGCAGCACTG	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000367355	Transcript	.	.	ENSG00000203721	21901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	LINC00862	HGNC	.	.	.	deletion	LINC00862,non_coding_transcript_exon_variant,,ENST00000367355,;LINC00862,intron_variant,,ENST00000367356,;	401-431	81	118	SUCCESS
LMOD1	25802	.	GRCh37	1	201868843	201868843	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368400320	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	30	105	0	ENST00000367288.4:c.1298C>T	p.Thr433Met	p.T433M	ENST00000367288	NM_012134.2	433	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS53457.1	1298	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGTCTTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	A:0.0001	ENSP00000356257	.	2/3	.	.	.	.	.	.	.	.	rs368400320	2/3	PASS	ENST00000367288	Transcript	.	.	ENSG00000163431	6647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	.	.	.	LMOD1_HUMAN	LMOD1	HGNC	B4DIX9_HUMAN	.	UPI00003665F4	SNV	LMOD1,missense_variant,p.Thr433Met,ENST00000367288,;RP11-307B6.3,intron_variant,,ENST00000458139,;RP11-307B6.3,intron_variant,,ENST00000414927,;	1545	105	181	SUCCESS
PRKCZ	5590	.	GRCh37	1	2106687	2106687	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777236443	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	89	0	ENST00000378567.3:c.1510C>T	p.Arg504Trp	p.R504W	ENST00000378567	NM_002744.4	504	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS37.1	1510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGGCCA	NONE	byFrequency	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000554,SMART_domains:SM00220,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF60,PROSITE_profiles:PS50011	.	.	ENSP00000367830	.	16/18	.	.	.	.	.	.	.	.	rs777236443	16/18	PASS	ENST00000378567	Transcript	.	.	ENSG00000067606	9412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	deleterious(0.01)	.	KPCZ_HUMAN	PRKCZ	HGNC	J3KRP7_HUMAN,F2Z2H9_HUMAN,D6RGG1_HUMAN,D6RG01_HUMAN,D6REZ8_HUMAN,D6RDM0_HUMAN,D6RD31_HUMAN,D6RCN4_HUMAN,D6RC84_HUMAN,D6RBD4_HUMAN,D6RAU1_HUMAN,D6RAN5_HUMAN	.	UPI0000169EB7	SNV	PRKCZ,missense_variant,p.Arg321Trp,ENST00000400921,;PRKCZ,missense_variant,p.Arg400Trp,ENST00000461106,;PRKCZ,missense_variant,p.Arg504Trp,ENST00000378567,;PRKCZ,missense_variant,p.Arg321Trp,ENST00000400920,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000479263,;PRKCZ,downstream_gene_variant,,ENST00000472017,;PRKCZ,missense_variant,p.Arg317Trp,ENST00000478770,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000505322,;	1671	89	77	SUCCESS
MIA3	375056	.	GRCh37	1	222791466	222791466	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs560508185	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	32	73	0	ENST00000344922.5:c.14C>G	p.Pro5Arg	p.P5R	ENST00000344922	NM_198551.2	5	cCt/cGt	0	.	T:0	.	T:0	.	G	P/R	protein_coding	YES	CCDS41470.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCCTGGGC	NONE	by1000G	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	T:0	.	ENSP00000340900	T:0	1/28	.	.	.	.	.	.	.	.	rs560508185	1/28	PASS	ENST00000344922	Transcript	.	T:0.0002	ENSG00000154305	24008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0.001	deleterious_low_confidence(0.01)	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,missense_variant,p.Pro5Arg,ENST00000344922,;MIA3,missense_variant,p.Pro5Arg,ENST00000344507,;MIA3,missense_variant,p.Pro5Arg,ENST00000344441,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	39	73	119	SUCCESS
MT1HL1	645745	.	GRCh37	1	237167633	237167633	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1336176372	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	22	53	0	ENST00000464121.2:c.40G>A	p.Ala14Thr	p.A14T	ENST00000464121	NM_001276687.1	14	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31068.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCGTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23299,hmmpanther:PTHR23299:SF4,PROSITE_patterns:PS00652,Pfam_domain:PF00131,Gene3D:4mt2A00,Superfamily_domains:SSF57868,Prints_domain:PR00860	.	.	ENSP00000476141	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000464121	Transcript	.	.	ENSG00000244020	31864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	M1BL1_HUMAN	MT1HL1	HGNC	.	.	UPI0000072A71	SNV	MT1HL1,missense_variant,p.Ala14Thr,ENST00000464121,;	86	53	116	SUCCESS
FMN2	56776	.	GRCh37	1	240256479	240256479	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	41	0	ENST00000319653.9:c.1070C>T	p.Ala357Val	p.A357V	ENST00000319653	NM_020066.4	357	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31069.2	1070	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	1/18	.	.	.	.	.	.	.	.	COSM1743372	1/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	.	1	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Ala357Val,ENST00000319653,;FMN2,intron_variant,,ENST00000447095,;	1300	41	70	SUCCESS
TMEM39B	55116	.	GRCh37	1	32557607	32557607	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202154275	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	50	0	ENST00000336294.5:c.922G>A	p.Val308Met	p.V308M	ENST00000336294	NM_018056.2	308	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS351.2	922	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCGTGAAG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF2,Pfam_domain:PF10271	.	A:0.0002	ENSP00000338165	.	6/9	.	.	.	.	.	.	.	.	rs202154275	6/9	PASS	ENST00000336294	Transcript	.	.	ENSG00000121775	25510	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.847)	.	deleterious(0.01)	.	TM39B_HUMAN	TMEM39B	HGNC	Q9NW51_HUMAN,Q9BT39_HUMAN,B4DQE6_HUMAN	.	UPI0000037B9F	SNV	TMEM39B,missense_variant,p.Val109Met,ENST00000373634,;TMEM39B,missense_variant,p.Val193Met,ENST00000427288,;TMEM39B,missense_variant,p.Val308Met,ENST00000336294,;TMEM39B,3_prime_UTR_variant,,ENST00000456834,;TMEM39B,downstream_gene_variant,,ENST00000438825,;MIR5585,downstream_gene_variant,,ENST00000577515,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000498613,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,downstream_gene_variant,,ENST00000466321,;TMEM39B,3_prime_UTR_variant,,ENST00000441402,;	1068	50	29	SUCCESS
INADL	0	.	GRCh37	1	62579830	62579830	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs749661534	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	55	144	0	ENST00000371158.2:c.4567T>G	p.Tyr1523Asp	p.Y1523D	ENST00000371158	NM_176877.2	1523	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS617.2	4567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTACCGG	NONE	byFrequency	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964,Superfamily_domains:SSF50156	.	.	ENSP00000360200	.	35/43	.	.	.	.	.	.	.	.	rs749661534	35/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.144)	.	tolerated(0.06)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Tyr1553Asp,ENST00000316485,;INADL,missense_variant,p.Tyr1523Asp,ENST00000371158,;INADL,missense_variant,p.Tyr168Asp,ENST00000545929,;INADL,missense_variant,p.Tyr337Asp,ENST00000543708,;INADL,non_coding_transcript_exon_variant,,ENST00000465798,;INADL,missense_variant,p.Tyr982Asp,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	4681	144	136	SUCCESS
MSH4	4438	.	GRCh37	1	76349304	76349304	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	.	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	27	86	0	ENST00000263187.3:c.1907-2A>C		p.X636_splice	ENST00000263187	NM_002440.3	636		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS670.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAAGTTCG	NONE	.	.	.	.	.	ENSP00000263187	.	.	.	.	.	.	.	.	.	.	COSM4055004,COSM4055003	.	PASS	ENST00000263187	Transcript	.	.	ENSG00000057468	7327	.	.	HIGH	14/19	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	MSH4_HUMAN	MSH4	HGNC	Q5ZEZ0_HUMAN	.	UPI000006D934	SNV	MSH4,splice_acceptor_variant,,ENST00000263187,;	.	86	121	SUCCESS
H6PD	9563	.	GRCh37	1	9323715	9323737	+	frameshift_variant	Frame_Shift_Del	DEL	CGGCGCAGAGCCAGTGCCTGCCC	CGGCGCAGAGCCAGTGCCTGCCC	-	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	CGGCGCAGAGCCAGTGCCTGCCC	CGGCGCAGAGCCAGTGCCTGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	91	51	147	0	ENST00000377403.2:c.1167_1189del	p.Gln390AlafsTer99	p.Q390Afs*99	ENST00000377403	NM_004285.3	388	gCGGCGCAGAGCCAGTGCCTGCCC/g	0	.	.	.	.	.	-	AAQSQCLP/X	protein_coding	YES	CCDS101.1	1163-1185	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCCGCGGCGCAGAGCCAGTGCCTGCCCCGGCA	NONE	.	.	hmmpanther:PTHR23429:SF2,hmmpanther:PTHR23429,Gene3D:3.30.360.10,Superfamily_domains:SSF55347	.	.	ENSP00000366620	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377403	Transcript	.	.	ENSG00000049239	4795	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	G6PE_HUMAN	H6PD	HGNC	.	.	UPI000013C9AD	deletion	H6PD,frameshift_variant,p.Gln401AlafsTer99,ENST00000602477,;H6PD,frameshift_variant,p.Gln390AlafsTer99,ENST00000377403,;H6PD,upstream_gene_variant,,ENST00000495451,;	1465-1487	147	142	SUCCESS
C20orf26	0	.	GRCh37	20	20150059	20150059	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	30	109	0	ENST00000245957.5:c.1340C>A	p.Thr447Asn	p.T447N	ENST00000245957	NM_015585.3	447	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS33447.1	1340	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACCCTCG	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	13/27	.	.	.	.	.	.	.	.	COSM3544542,COSM3544543	13/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.319)	.	tolerated(0.26)	1,1	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Thr447Asn,ENST00000451767,;C20orf26,missense_variant,p.Thr447Asn,ENST00000377306,;C20orf26,missense_variant,p.Thr447Asn,ENST00000245957,;C20orf26,missense_variant,p.Thr13Asn,ENST00000431753,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,downstream_gene_variant,,ENST00000340348,;C20orf26,downstream_gene_variant,,ENST00000442372,;	1416	110	168	SUCCESS
SLC12A5	57468	.	GRCh37	20	44650434	44650435	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs1254381660	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	33	0	ENST00000454036.2:c.36dup	p.Ala13ArgfsTer8	p.A13Rfs*8	ENST00000454036	NM_001134771.1	10	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS46610.1	30-31	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGCTGCCCCC	NONE	.	.	.	.	.	ENSP00000387694	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	insertion	SLC12A5,frameshift_variant,p.Ala13ArgfsTer8,ENST00000454036,;RP11-465L10.10,non_coding_transcript_exon_variant,,ENST00000535913,;RP11-465L10.10,upstream_gene_variant,,ENST00000419897,;SLC12A5,non_coding_transcript_exon_variant,,ENST00000428198,;SLC12A5,upstream_gene_variant,,ENST00000413737,;	79-80	33	53	SUCCESS
CD40	958	.	GRCh37	20	44746957	44746957	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	43	0	ENST00000372285.3:c.-26G>C		p.*9*	ENST00000372285	NM_001250.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13393.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGTCCTG	NONE	.	.	.	.	.	ENSP00000361359	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000372285	Transcript	1	.	ENSG00000101017	11919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR5_HUMAN	CD40	HGNC	Q09LL4_HUMAN	.	UPI00000336A0	SNV	CD40,5_prime_UTR_variant,,ENST00000372285,;CD40,5_prime_UTR_variant,,ENST00000372276,;CD40,upstream_gene_variant,,ENST00000477696,;CD40,upstream_gene_variant,,ENST00000461171,;CD40,upstream_gene_variant,,ENST00000489304,;CD40,upstream_gene_variant,,ENST00000466205,;	47	43	41	SUCCESS
PTGIS	5740	.	GRCh37	20	48184682	48184682	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs5582	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	14	0	ENST00000244043.4:c.-29C>T		p.*10*	ENST00000244043	NM_000961.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13419.1	.	SOMATICSNIPER|VARSCANS	.	GGCTGGCGGGG	NONE	byFrequency|byCluster|byHapMap|by1000G	.	.	.	.	ENSP00000244043	.	1/10	.	.	.	.	.	.	.	.	rs5582	1/10	PASS	ENST00000244043	Transcript	.	.	ENSG00000124212	9603	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTGIS_HUMAN	PTGIS	HGNC	Q6LEN0_HUMAN	.	UPI00001328DF	SNV	PTGIS,5_prime_UTR_variant,,ENST00000244043,;PTGIS,upstream_gene_variant,,ENST00000478971,;	2	14	46	SUCCESS
PRDM15	63977	.	GRCh37	21	43254654	43254655	+	intron_variant	Intron	INS	-	-	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	73	0	ENST00000269844.3:c.2464+891dup		p.*822*	ENST00000269844	NM_022115.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13676.1	.	VARSCANI*|PINDEL	.	CCCTCTCCAGG	NONE	.	.	.	.	.	ENSP00000269844	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	MODIFIER	18/30	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	insertion	PRDM15,frameshift_variant,p.Glu500ArgfsTer10,ENST00000422911,;PRDM15,frameshift_variant,p.Glu463ArgfsTer10,ENST00000538201,;PRDM15,intron_variant,,ENST00000269844,;PRDM15,intron_variant,,ENST00000398548,;PRDM15,intron_variant,,ENST00000447207,;PRDM15,intron_variant,,ENST00000491486,;PRDM15,intron_variant,,ENST00000496124,;PRDM15,frameshift_variant,p.Glu500ArgfsTer10,ENST00000449395,;PRDM15,intron_variant,,ENST00000433067,;PRDM15,intron_variant,,ENST00000489661,;PRDM15,intron_variant,,ENST00000447016,;PRDM15,intron_variant,,ENST00000441787,;	.	73	93	SUCCESS
TTC30A	92104	.	GRCh37	2	178482808	178482808	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763287704	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	27	79	0	ENST00000355689.5:c.622C>G	p.Leu208Val	p.L208V	ENST00000355689	NM_152275.3	208	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS2276.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGTGCTG	NONE	byFrequency	.	Superfamily_domains:SSF48452,Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR20931,hmmpanther:PTHR20931:SF3,PROSITE_profiles:PS50293	.	.	ENSP00000347915	.	1/1	.	.	.	.	.	.	.	.	rs763287704,COSM1401491	1/1	PASS	ENST00000355689	Transcript	.	.	ENSG00000197557	25853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.512)	.	tolerated(0.06)	0,1	TT30A_HUMAN	TTC30A	HGNC	.	.	UPI0000209161	SNV	TTC30A,missense_variant,p.Leu208Val,ENST00000355689,;AC073834.3,intron_variant,,ENST00000357045,;	887	79	112	SUCCESS
TTN	7273	.	GRCh37	2	179567285	179567285	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	26	79	0	ENST00000591111.1:c.29378G>A	p.Trp9793Ter	p.W9793*	ENST00000591111		9793	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS59435.1	30329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCATGTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	107/363	.	.	.	.	.	.	.	.	.	107/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Trp8866Ter,ENST00000342992,;TTN,stop_gained,p.Trp10110Ter,ENST00000589042,;TTN,stop_gained,p.Trp9793Ter,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	30554	79	111	SUCCESS
ITGA4	3676	.	GRCh37	2	182358128	182358128	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	59	0	ENST00000397033.2:c.1230C>T	p.Ile410=	p.I410=	ENST00000397033	NM_000885.4	410	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS42788.1	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATCTCGTC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000380227	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,synonymous_variant,p.%3D,ENST00000233573,;ITGA4,synonymous_variant,p.%3D,ENST00000397033,;ITGA4,non_coding_transcript_exon_variant,,ENST00000473002,;ITGA4,upstream_gene_variant,,ENST00000490435,;	1660	59	91	SUCCESS
RUFY4	285180	.	GRCh37	2	218939997	218939997	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	109	240	0	ENST00000344321.7:c.782A>G	p.Tyr261Cys	p.Y261C	ENST00000344321	NM_198483.3	261	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTACCCCC	NONE	.	.	hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF13	.	.	ENSP00000363270	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000374155	Transcript	.	.	ENSG00000188282	24804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	.	RUFY4	HGNC	C9J235_HUMAN	.	UPI000035E73D	SNV	RUFY4,missense_variant,p.Tyr281Cys,ENST00000374155,;RUFY4,missense_variant,p.Tyr261Cys,ENST00000344321,;RUFY4,3_prime_UTR_variant,,ENST00000441828,;RUFY4,non_coding_transcript_exon_variant,,ENST00000463872,;RUFY4,downstream_gene_variant,,ENST00000480164,;RUFY4,downstream_gene_variant,,ENST00000465568,;RUFY4,downstream_gene_variant,,ENST00000463618,;RUFY4,downstream_gene_variant,,ENST00000472496,;RUFY4,3_prime_UTR_variant,,ENST00000457754,;RUFY4,downstream_gene_variant,,ENST00000495721,;	1252	241	237	SUCCESS
SPEG	10290	.	GRCh37	2	220348089	220348089	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	63	0	ENST00000312358.7:c.5904C>A	p.Ala1968=	p.A1968=	ENST00000312358	NM_005876.4	1968	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42824.1	5904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCACCCC	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,synonymous_variant,p.%3D,ENST00000312358,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	6036	63	74	SUCCESS
AC104809.2	0	.	GRCh37	2	241922429	241922429	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	77	169	0	ENST00000425110.1:n.848G>A		p.*283*	ENST00000425110				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCGCTGGAG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000425110	Transcript	.	.	ENSG00000223991	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC104809.2	Clone_based_vega_gene	.	.	.	SNV	AC104809.3,synonymous_variant,p.%3D,ENST00000443866,;AC104809.2,non_coding_transcript_exon_variant,,ENST00000425110,;	848	169	152	SUCCESS
IGKV6-21	28906	.	GRCh37	2	89459496	89459496	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	60	218	0	ENST00000390256.2:c.81A>G	p.Pro27=	p.P27=	ENST00000390256		27	ccA/ccG	0	.	.	.	.	.	C	P	IG_V_gene	YES	.	81	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AAGTCTGGAGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF146,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374791	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390256	Transcript	.	.	ENSG00000211611	5836	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGKV6-21	HGNC	.	.	UPI0000113B3E	SNV	IGKV6-21,synonymous_variant,p.%3D,ENST00000390256,;	145	218	168	SUCCESS
ABI3BP	25890	.	GRCh37	3	100508351	100508351	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs769685696	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	48	0	ENST00000284322.5:c.1976G>C	p.Arg659Thr	p.R659T	ENST00000284322	NM_015429.3	659	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS46880.1	1976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCTGTGT	NONE	.	.	hmmpanther:PTHR23197	.	.	ENSP00000284322	.	24/35	.	.	.	.	.	.	.	.	rs769685696	24/35	PASS	ENST00000284322	Transcript	.	.	ENSG00000154175	17265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	TARSH_HUMAN	ABI3BP	HGNC	.	.	UPI000011C136	SNV	ABI3BP,missense_variant,p.Arg239Thr,ENST00000471901,;ABI3BP,missense_variant,p.Arg715Thr,ENST00000495591,;ABI3BP,missense_variant,p.Arg75Thr,ENST00000497395,;ABI3BP,missense_variant,p.Arg659Thr,ENST00000284322,;ABI3BP,missense_variant,p.Arg613Thr,ENST00000383691,;ABI3BP,missense_variant,p.Arg1336Thr,ENST00000471714,;ABI3BP,missense_variant,p.Arg71Thr,ENST00000486770,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;	2086	48	83	SUCCESS
RETNLB	84666	.	GRCh37	3	108474658	108474658	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	164	304	1	ENST00000295755.6:c.303C>A	p.Asp101Glu	p.D101E	ENST00000295755	NM_032579.2	101	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS2953.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGTCCAC	NONE	.	.	Superfamily_domains:SSF111423,Pfam_domain:PF06954,hmmpanther:PTHR21101,hmmpanther:PTHR21101:SF13	.	.	ENSP00000295755	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295755	Transcript	.	.	ENSG00000163515	20388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RETNB_HUMAN	RETNLB	HGNC	.	.	UPI00000015BE	SNV	RETNLB,missense_variant,p.Asp101Glu,ENST00000295755,;RETNLB,intron_variant,,ENST00000482939,;	502	305	261	SUCCESS
NCEH1	57552	.	GRCh37	3	172428996	172428996	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	41	0	ENST00000538775.1:c.-126G>C		p.*42*	ENST00000538775	NM_001146276.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54682.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCTGTCG	NONE	.	.	.	.	.	ENSP00000442464	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000538775	Transcript	.	.	ENSG00000144959	29260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NCEH1	HGNC	F5H7K4_HUMAN	.	UPI000199A4B7	SNV	NCEH1,5_prime_UTR_variant,,ENST00000543711,;NCEH1,5_prime_UTR_variant,,ENST00000538775,;NCEH1,5_prime_UTR_variant,,ENST00000475381,;NCEH1,5_prime_UTR_variant,,ENST00000273512,;NCEH1,upstream_gene_variant,,ENST00000424772,;NCEH1,upstream_gene_variant,,ENST00000421723,;	13	41	54	SUCCESS
MCCC1	56922	.	GRCh37	3	182756804	182756824	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GATCACTCACATTGTACTGAC	GATCACTCACATTGTACTGAC	-	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	GATCACTCACATTGTACTGAC	GATCACTCACATTGTACTGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	119	45	126	0	ENST00000265594.4:c.1367_1377+10del		p.X456_splice	ENST00000265594	NM_020166.3	456		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3241.1	1367-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTCAGATCACTCACATTGTACTGACGAAGG	NONE	.	.	.	.	.	ENSP00000265594	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000265594	Transcript	.	.	ENSG00000078070	6936	.	.	HIGH	12/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCCA_HUMAN	MCCC1	HGNC	F5GYT8_HUMAN,F2Z3E2_HUMAN,E9PHF7_HUMAN	.	UPI000013D646	deletion	MCCC1,splice_donor_variant,,ENST00000539926,;MCCC1,splice_donor_variant,,ENST00000265594,;MCCC1,splice_donor_variant,,ENST00000476176,;MCCC1,splice_donor_variant,,ENST00000492597,;MCCC1,upstream_gene_variant,,ENST00000489909,;MCCC1,splice_donor_variant,,ENST00000497830,;MCCC1,splice_donor_variant,,ENST00000495767,;MCCC1,splice_donor_variant,,ENST00000497959,;	1514-?	126	164	SUCCESS
EPHB3	2049	.	GRCh37	3	184295691	184295691	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	71	0	ENST00000330394.2:c.1645G>T	p.Gly549Trp	p.G549W	ENST00000330394	NM_004443.3	549	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS3268.1	1645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGGGGCC	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,PIRSF_domain:PIRSF000666	.	.	ENSP00000332118	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.18)	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Gly549Trp,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,non_coding_transcript_exon_variant,,ENST00000482987,;EPHB3,upstream_gene_variant,,ENST00000473079,;	2097	71	64	SUCCESS
ATP13A4	84239	.	GRCh37	3	193120567	193120567	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200859894	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	41	0	ENST00000342695.4:c.3465G>T	p.Gln1155His	p.Q1155H	ENST00000342695	NM_032279.2	1155	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS3304.2	3465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTCTGCCA	NONE	by1000G	.	.	.	.	ENSP00000339182	.	30/30	.	.	.	.	.	.	.	.	rs200859894,COSM209284	30/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	deleterious(0.03)	0,1	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Gln171His,ENST00000400270,;ATP13A4,missense_variant,p.Gln1136His,ENST00000392443,;ATP13A4,missense_variant,p.Gln1155His,ENST00000342695,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000482964,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,3_prime_UTR_variant,,ENST00000428352,;	3788	41	65	SUCCESS
MUC4	4585	.	GRCh37	3	195508118	195508118	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs554580122	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	128	0	ENST00000463781.3:c.10333A>G	p.Ser3445Gly	p.S3445G	ENST00000463781	NM_018406.6	3445	Agc/Ggc	0	.	C:0.0008	.	C:0	.	C	S/G	protein_coding	YES	CCDS54700.1	10333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCTGGTGA	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	C:0	.	ENSP00000417498	C:0.001	2/25	.	.	.	.	.	.	.	.	rs554580122	2/25	PASS	ENST00000463781	Transcript	.	C:0.0008	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	C:0.002	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Ser3445Gly,ENST00000463781,;MUC4,missense_variant,p.Ser3445Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Ser3445Gly,ENST00000470451,;MUC4,missense_variant,p.Ser3445Gly,ENST00000477086,;MUC4,missense_variant,p.Ser3445Gly,ENST00000466475,;MUC4,missense_variant,p.Ser3445Gly,ENST00000478156,;MUC4,missense_variant,p.Ser3445Gly,ENST00000479406,;MUC4,missense_variant,p.Ser3445Gly,ENST00000477756,;MUC4,missense_variant,p.Ser3445Gly,ENST00000462323,;MUC4,missense_variant,p.Ser3445Gly,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	10793	128	104	SUCCESS
RBMS3	27303	.	GRCh37	3	29476348	29476348	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	128	259	1	ENST00000383767.2:c.190T>A	p.Tyr64Asn	p.Y64N	ENST00000383767		64	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS33724.1	190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTACATT	NONE	.	.	Prints_domain:PR00961,Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219,PROSITE_profiles:PS50102	.	.	ENSP00000373277	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,missense_variant,p.Tyr63Asn,ENST00000434693,;RBMS3,missense_variant,p.Tyr64Asn,ENST00000273139,;RBMS3,missense_variant,p.Tyr64Asn,ENST00000396583,;RBMS3,missense_variant,p.Tyr64Asn,ENST00000383767,;RBMS3,missense_variant,p.Tyr64Asn,ENST00000445033,;RBMS3,missense_variant,p.Tyr64Asn,ENST00000452462,;RBMS3,missense_variant,p.Tyr63Asn,ENST00000383766,;RBMS3,missense_variant,p.Tyr64Asn,ENST00000456853,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497205,;RBMS3,non_coding_transcript_exon_variant,,ENST00000471426,;	526	260	303	SUCCESS
ULK4	54986	.	GRCh37	3	41607592	41607592	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	25	82	0	ENST00000301831.4:c.3150C>T	p.Thr1050=	p.T1050=	ENST00000301831	NM_017886.2	1050	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43071.1	3150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGGTATT	NONE	.	.	hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000301831	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000301831	Transcript	.	.	ENSG00000168038	15784	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ULK4_HUMAN	ULK4	HGNC	B3KSE5_HUMAN	.	UPI0000E8267C	SNV	ULK4,synonymous_variant,p.%3D,ENST00000301831,;	3613	82	97	SUCCESS
DNAH1	25981	.	GRCh37	3	52419370	52419370	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	49	103	0	ENST00000420323.2:c.8532G>A	p.Glu2844=	p.E2844=	ENST00000420323	NM_015512.4	2844	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS46842.1	8532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGGATGT	NONE	.	.	Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	54/78	.	.	.	.	.	.	.	.	.	54/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,synonymous_variant,p.%3D,ENST00000420323,;DNAH1,upstream_gene_variant,,ENST00000480649,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000490713,;	8793	103	93	SUCCESS
HELT	391723	.	GRCh37	4	185940140	185940140	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	76	150	0	ENST00000515777.1:c.27+31G>A		p.*9*	ENST00000515777		20		0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34113.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGCCCTG	NONE	.	.	.	.	.	ENSP00000343464	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000338875	Transcript	.	.	ENSG00000187821	33783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.821)	.	deleterious_low_confidence(0)	.	HELT_HUMAN	HELT	HGNC	.	.	UPI0000419186	SNV	HELT,missense_variant,p.Ala20Thr,ENST00000338875,;HELT,intron_variant,,ENST00000515777,;HELT,intron_variant,,ENST00000505610,;HELT,intron_variant,,ENST00000513599,;	58	150	118	SUCCESS
MYO10	4651	.	GRCh37	5	16711257	16711257	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	343	52	196	1	ENST00000513610.1:c.2027G>T	p.Arg676Leu	p.R676L	ENST00000513610	NM_012334.2	676	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS54834.1	2027	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCGGACC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Arg687Leu,ENST00000513882,;MYO10,missense_variant,p.Arg33Leu,ENST00000274203,;MYO10,missense_variant,p.Arg33Leu,ENST00000427430,;MYO10,missense_variant,p.Arg15Leu,ENST00000515803,;MYO10,missense_variant,p.Arg15Leu,ENST00000505695,;MYO10,missense_variant,p.Arg676Leu,ENST00000513610,;MYO10,non_coding_transcript_exon_variant,,ENST00000510401,;MYO10,intron_variant,,ENST00000512061,;MYO10,intron_variant,,ENST00000506343,;MYO10,non_coding_transcript_exon_variant,,ENST00000511972,;MYO10,non_coding_transcript_exon_variant,,ENST00000508318,;	2482	197	395	SUCCESS
BDP1	55814	.	GRCh37	5	70782327	70782327	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	74	225	0	ENST00000358731.4:c.1086T>C	p.Phe362=	p.F362=	ENST00000358731	NM_018429.2	362	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS43328.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTGACTT	NONE	.	.	hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929	.	.	ENSP00000351575	.	9/39	.	.	.	.	.	.	.	.	.	9/39	PASS	ENST00000358731	Transcript	.	.	ENSG00000145734	13652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BDP1_HUMAN	BDP1	HGNC	.	.	UPI000020CA90	SNV	BDP1,synonymous_variant,p.%3D,ENST00000358731,;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;	1349	225	300	SUCCESS
NOX3	50508	.	GRCh37	6	155776002	155776002	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	73	113	0	ENST00000159060.2:c.198G>A	p.Met66Ile	p.M66I	ENST00000159060	NM_015718.2	66	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS5250.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGCATGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Pfam_domain:PF01794	.	.	ENSP00000159060	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	deleterious(0.04)	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,missense_variant,p.Met66Ile,ENST00000159060,;	301	113	115	SUCCESS
IER3	8870	.	GRCh37	6	30712143	30712143	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	47	127	0	ENST00000259874.5:c.153C>T	p.Arg51=	p.R51=	ENST00000259874	NM_003897.3	51	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4689.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGCGCCC	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR02100,hmmpanther:PTHR16915:SF0,hmmpanther:PTHR16915	.	.	ENSP00000259874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000259874	Transcript	.	.	ENSG00000137331	5392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IEX1_HUMAN	IER3	HGNC	.	.	UPI00001AFA8D	SNV	IER3,synonymous_variant,p.%3D,ENST00000376377,;IER3,synonymous_variant,p.%3D,ENST00000259874,;FLOT1,upstream_gene_variant,,ENST00000416018,;FLOT1,upstream_gene_variant,,ENST00000438162,;FLOT1,upstream_gene_variant,,ENST00000376389,;FLOT1,upstream_gene_variant,,ENST00000418160,;FLOT1,upstream_gene_variant,,ENST00000413165,;FLOT1,upstream_gene_variant,,ENST00000456573,;FLOT1,upstream_gene_variant,,ENST00000454845,;FLOT1,upstream_gene_variant,,ENST00000445853,;XXbac-BPG252P9.10,downstream_gene_variant,,ENST00000607333,;FLOT1,upstream_gene_variant,,ENST00000470643,;FLOT1,upstream_gene_variant,,ENST00000484693,;FLOT1,upstream_gene_variant,,ENST00000484168,;FLOT1,upstream_gene_variant,,ENST00000487376,;FLOT1,upstream_gene_variant,,ENST00000476729,;	189	127	202	SUCCESS
FLNC	2318	.	GRCh37	7	128492798	128492798	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1346364708	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	113	153	0	ENST00000325888.8:c.5996G>A	p.Arg1999Gln	p.R1999Q	ENST00000325888	NM_001458.4	1999	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS43644.1	5996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCGGCACA	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	36/48	.	.	.	.	.	.	.	.	COSM1085380	36/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.482)	.	tolerated(0.09)	1	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,missense_variant,p.Arg1999Gln,ENST00000325888,;FLNC,missense_variant,p.Arg1966Gln,ENST00000346177,;RP11-309L24.2,intron_variant,,ENST00000469965,;	6257	153	149	SUCCESS
HOXA2	3199	.	GRCh37	7	27141906	27141906	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	634	36	701	0	ENST00000222718.5:c.214C>T	p.Arg72Cys	p.R72C	ENST00000222718	NM_006735.3	72	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5403.1	214	MUTECT|MUSE	.	GGGGCGGCCGC	NONE	.	.	hmmpanther:PTHR24326:SF42,hmmpanther:PTHR24326	.	.	ENSP00000222718	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222718	Transcript	.	.	ENSG00000105996	5103	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	deleterious(0)	.	HXA2_HUMAN	HOXA2	HGNC	.	.	UPI0000049C49	SNV	HOXA2,missense_variant,p.Arg72Cys,ENST00000222718,;HOXA3,downstream_gene_variant,,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000396352,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;	525	701	670	SUCCESS
GLI3	2737	.	GRCh37	7	42065983	42065983	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375277249	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	89	0	ENST00000395925.3:c.1057G>A	p.Ala353Thr	p.A353T	ENST00000395925	NM_000168.5	353	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5465.1	1057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGCGGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	8/15	.	.	.	.	.	.	.	.	rs375277249	8/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(1)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Ala353Thr,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	1142	89	124	SUCCESS
AEBP1	165	.	GRCh37	7	44153377	44153377	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	55	105	0	ENST00000223357.3:c.2994G>A	p.Gly998=	p.G998=	ENST00000223357	NM_001129.4	998	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5476.1	2994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGGGAACCG	NONE	.	.	hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:2.60.40.1120,Superfamily_domains:SSF49464	.	.	ENSP00000223357	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000223357	Transcript	.	.	ENSG00000106624	303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AEBP1_HUMAN	AEBP1	HGNC	B4DJB3_HUMAN	.	UPI00000746E2	SNV	AEBP1,synonymous_variant,p.%3D,ENST00000223357,;AEBP1,synonymous_variant,p.%3D,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;POLD2,downstream_gene_variant,,ENST00000436400,;POLD2,downstream_gene_variant,,ENST00000456038,;POLD2,downstream_gene_variant,,ENST00000452185,;POLD2,downstream_gene_variant,,ENST00000418438,;POLD2,downstream_gene_variant,,ENST00000436844,;MIR4649,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000463464,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000496539,;AEBP1,downstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000467469,;POLD2,downstream_gene_variant,,ENST00000470867,;POLD2,downstream_gene_variant,,ENST00000461116,;POLD2,downstream_gene_variant,,ENST00000464871,;AEBP1,downstream_gene_variant,,ENST00000453052,;POLD2,downstream_gene_variant,,ENST00000489883,;	3299	105	138	SUCCESS
POM121L12	285877	.	GRCh37	7	53103524	53103524	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	41	215	0	ENST00000408890.4:c.160C>T	p.Pro54Ser	p.P54S	ENST00000408890	NM_182595.3	54	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43584.1	160	RADIA|MUTECT|MUSE	.	CCTGGCCCCTG	BUFFER|p.P54P|c.162C>A|3	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.31)	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Pro54Ser,ENST00000408890,;	176	215	273	SUCCESS
USP42	84132	.	GRCh37	7	6150812	6150812	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	62	98	0	ENST00000306177.5:c.48T>C	p.Tyr16=	p.Y16=	ENST00000306177	NM_032172.2	16	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS47535.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTATCAGAA	NONE	.	.	.	.	.	ENSP00000301962	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000465073,;USP42,synonymous_variant,p.%3D,ENST00000521713,;USP42,synonymous_variant,p.%3D,ENST00000451154,;USP42,synonymous_variant,p.%3D,ENST00000404008,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	206	98	162	SUCCESS
ABCB1	5243	.	GRCh37	7	87160674	87160674	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs565619660	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	73	80	0	ENST00000265724.3:c.2621T>C	p.Val874Ala	p.V874A	ENST00000265724	NM_000927.4	874	gTt/gCt	0	.	G:0.0008	.	G:0	.	G	V/A	protein_coding	YES	CCDS5608.1	2621	RADIA|MUTECT|MUSE	.	TTTCAACAACT	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	G:0	.	ENSP00000265724	G:0	22/29	.	.	.	.	.	.	.	.	rs565619660	22/29	PASS	ENST00000265724	Transcript	.	G:0.0002	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	G:0	tolerated(0.09)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Val874Ala,ENST00000265724,;ABCB1,missense_variant,p.Val810Ala,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,non_coding_transcript_exon_variant,,ENST00000496821,;	3039	80	168	SUCCESS
CYP11B1	1584	.	GRCh37	8	143956450	143956450	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781052848	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	4	121	0	ENST00000292427.4:c.1321G>A	p.Val441Met	p.V441M	ENST00000292427	NM_000497.3	441	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS6392.1	1321	MUTECT|MUSE	.	GGGCACGTGGT	NONE	byFrequency	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385	.	.	ENSP00000292427	.	8/9	.	.	.	.	.	.	.	.	rs781052848	8/9	PASS	ENST00000292427	Transcript	1	.	ENSG00000160882	2591	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.066)	.	deleterious(0.01)	.	C11B1_HUMAN	CYP11B1	HGNC	Q8TE40_HUMAN,Q8TE38_HUMAN	.	UPI000013E0BA	SNV	CYP11B1,missense_variant,p.Val441Met,ENST00000292427,;CYP11B1,missense_variant,p.Val512Met,ENST00000377675,;CYP11B1,missense_variant,p.Val119Met,ENST00000519285,;GML,intron_variant,,ENST00000522728,;CYP11B1,intron_variant,,ENST00000517471,;CYP11B1,intron_variant,,ENST00000314111,;	1354	121	100	SUCCESS
ARHGEF10	9639	.	GRCh37	8	1830810	1830810	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	117	246	0	ENST00000398564.1:c.1045C>T	p.Leu349Phe	p.L349F	ENST00000398564		349	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS34794.1	970	RADIA|MUTECT|MUSE	.	AGAAGCTCGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12877:SF14,hmmpanther:PTHR12877	.	.	ENSP00000340297	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000349830	Transcript	1	.	ENSG00000104728	14103	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.422)	.	deleterious(0.03)	.	ARHGA_HUMAN	ARHGEF10	HGNC	.	.	UPI00005054FE	SNV	ARHGEF10,missense_variant,p.Leu349Phe,ENST00000262112,;ARHGEF10,missense_variant,p.Leu349Phe,ENST00000398564,;ARHGEF10,missense_variant,p.Leu324Phe,ENST00000349830,;ARHGEF10,missense_variant,p.Leu310Phe,ENST00000398560,;ARHGEF10,missense_variant,p.Leu286Phe,ENST00000520359,;ARHGEF10,missense_variant,p.Leu349Phe,ENST00000518288,;ARHGEF10,upstream_gene_variant,,ENST00000522435,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;	1155	246	228	SUCCESS
ADHFE1	137872	.	GRCh37	8	67356983	67356983	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs756778589	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	34	119	1	ENST00000396623.3:c.353G>A	p.Ser118Asn	p.S118N	ENST00000396623	NM_144650.2	118	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS6190.2	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGGTATT	NONE	.	.	hmmpanther:PTHR11496:SF62,hmmpanther:PTHR11496,Gene3D:3.40.50.1970,Pfam_domain:PF00465,Superfamily_domains:SSF56796	.	.	ENSP00000379865	.	5/14	.	.	.	.	.	.	.	.	rs756778589	5/14	PASS	ENST00000396623	Transcript	.	.	ENSG00000147576	16354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0)	.	HOT_HUMAN	ADHFE1	HGNC	E5RFL4_HUMAN	.	UPI000004966C	SNV	ADHFE1,missense_variant,p.Ser70Asn,ENST00000415254,;ADHFE1,missense_variant,p.Ser118Asn,ENST00000396623,;ADHFE1,missense_variant,p.Ser118Asn,ENST00000379385,;ADHFE1,missense_variant,p.Ser53Asn,ENST00000523113,;ADHFE1,splice_region_variant,,ENST00000496501,;ADHFE1,downstream_gene_variant,,ENST00000518781,;ADHFE1,missense_variant,p.Arg118Lys,ENST00000422166,;ADHFE1,missense_variant,p.Ser118Asn,ENST00000424777,;ADHFE1,missense_variant,p.Ser118Asn,ENST00000396621,;ADHFE1,splice_region_variant,,ENST00000449512,;ADHFE1,splice_region_variant,,ENST00000466920,;ADHFE1,splice_region_variant,,ENST00000443372,;ADHFE1,splice_region_variant,,ENST00000419955,;ADHFE1,splice_region_variant,,ENST00000426810,;ADHFE1,splice_region_variant,,ENST00000276576,;ADHFE1,splice_region_variant,,ENST00000431959,;ADHFE1,downstream_gene_variant,,ENST00000463261,;	384	120	130	SUCCESS
EPB41L4B	54566	.	GRCh37	9	112005913	112005913	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	60	101	0	ENST00000374566.3:c.1394A>G	p.His465Arg	p.H465R	ENST00000374566	NM_019114.3	465	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS43859.1	1394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGAGGA	NONE	.	.	hmmpanther:PTHR23280:SF18,hmmpanther:PTHR23280	.	.	ENSP00000363694	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000374566	Transcript	.	.	ENSG00000095203	19818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	tolerated(0.35)	.	E41LB_HUMAN	EPB41L4B	HGNC	.	.	UPI0000458994	SNV	EPB41L4B,missense_variant,p.His465Arg,ENST00000374566,;EPB41L4B,missense_variant,p.His465Arg,ENST00000374557,;	1912	102	93	SUCCESS
RNF38	152006	.	GRCh37	9	36400146	36400146	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	100	0	ENST00000259605.6:c.-41A>G		p.*14*	ENST00000259605	NM_022781.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6603.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATAACCT	NONE	.	.	.	.	.	ENSP00000259605	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000259605	Transcript	.	.	ENSG00000137075	18052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF38_HUMAN	RNF38	HGNC	Q9H748_HUMAN	.	UPI00001D69FF	SNV	RNF38,5_prime_UTR_variant,,ENST00000353739,;RNF38,5_prime_UTR_variant,,ENST00000259605,;RNF38,intron_variant,,ENST00000350199,;RNF38,intron_variant,,ENST00000357058,;RNF38,intron_variant,,ENST00000377885,;RNF38,intron_variant,,ENST00000377877,;RNF38,intron_variant,,ENST00000484621,;RNF38,intron_variant,,ENST00000491349,;RNF38,intron_variant,,ENST00000488058,;	68	100	70	SUCCESS
NKAP	79576	.	GRCh37	X	119077493	119077493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	98	208	0	ENST00000371410.3:c.76A>G	p.Lys26Glu	p.K26E	ENST00000371410	NM_024528.3	26	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14592.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTCGACG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF2	.	.	ENSP00000360464	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000371410	Transcript	.	.	ENSG00000101882	29873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.525)	.	tolerated(0.43)	.	NKAP_HUMAN	NKAP	HGNC	.	.	UPI000004A07B	SNV	NKAP,missense_variant,p.Lys26Glu,ENST00000371410,;	243	208	142	SUCCESS
GPR101	83550	.	GRCh37	X	136113301	136113301	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766985500	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	113	1	ENST00000298110.1:c.533G>A	p.Arg178His	p.R178H	ENST00000298110	NM_054021.1	178	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14662.1	533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCGCTCA	NONE	byFrequency	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	.	.	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	rs766985500	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.15)	.	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	SNV	GPR101,missense_variant,p.Arg178His,ENST00000298110,;	533	114	86	SUCCESS
ZDHHC15	158866	.	GRCh37	X	74644581	74644581	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	405	536	0	ENST00000373367.3:c.642T>A	p.Leu214=	p.L214=	ENST00000373367	NM_144969.2	214	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14430.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAAGGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF6,Pfam_domain:PF01529	.	.	ENSP00000362465	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000373367	Transcript	.	.	ENSG00000102383	20342	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDH15_HUMAN	ZDHHC15	HGNC	.	.	UPI000006DB5A	SNV	ZDHHC15,missense_variant,p.Phe174Tyr,ENST00000373361,;ZDHHC15,synonymous_variant,p.%3D,ENST00000541184,;ZDHHC15,synonymous_variant,p.%3D,ENST00000373367,;	873	536	621	SUCCESS
TAF9B	51616	.	GRCh37	X	77393577	77393577	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	173	339	0	ENST00000341864.5:c.152T>G	p.Leu51Arg	p.L51R	ENST00000341864	NM_015975.4	51	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS35340.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCAGAATT	NONE	.	.	hmmpanther:PTHR12075:SF1,hmmpanther:PTHR12075,Gene3D:1.10.20.10,Pfam_domain:PF02291,Superfamily_domains:SSF47113	.	.	ENSP00000339917	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000341864	Transcript	.	.	ENSG00000187325	17306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TAF9B_HUMAN	TAF9B	HGNC	.	.	UPI0000071003	SNV	TAF9B,missense_variant,p.Leu51Arg,ENST00000341864,;TAF9B,non_coding_transcript_exon_variant,,ENST00000480681,;	247	340	269	SUCCESS
VCX	26609	.	GRCh37	X	7811573	7811573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768350961	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	38	421	0	ENST00000381059.3:c.137G>A	p.Arg46His	p.R46H	ENST00000381059	NM_013452.2	46	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14128.1	137	RADIA|MUTECT|VARSCANS	.	AGTTCGTAGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231	.	.	ENSP00000370447	.	3/3	.	.	.	.	.	.	.	.	rs768350961,COSM138147	3/3	PASS	ENST00000381059	Transcript	.	.	ENSG00000182583	12667	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	unknown(0)	.	tolerated(0.12)	0,1	VCX1_HUMAN	VCX	HGNC	.	.	UPI0000138291	SNV	VCX,missense_variant,p.Arg46His,ENST00000341408,;VCX,missense_variant,p.Arg46His,ENST00000381059,;	356	421	207	SUCCESS
INPP5F	22876	.	GRCh37	10	121571371	121571371	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	85	0	ENST00000361976.2:c.1790A>C	p.Glu597Ala	p.E597A	ENST00000361976	NM_014937.3	597	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS7616.1	1790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAACTAA	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF129,Pfam_domain:PF12456	.	.	ENSP00000354519	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000361976	Transcript	.	.	ENSG00000198825	17054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	SAC2_HUMAN	INPP5F	HGNC	.	.	UPI000006FBCA	SNV	INPP5F,missense_variant,p.Glu597Ala,ENST00000361976,;PHACTR2P1,downstream_gene_variant,,ENST00000605639,;	1956	85	86	SUCCESS
TYSND1	219743	.	GRCh37	10	71905794	71905794	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	50	103	0	ENST00000287078.6:c.549C>G	p.Gly183=	p.G183=	ENST00000287078	NM_173555.3	183	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS31213.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAGCCCAG	NONE	.	.	PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0	.	.	ENSP00000287078	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000287078	Transcript	.	.	ENSG00000156521	28531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYSD1_HUMAN	TYSND1	HGNC	.	.	UPI0000160C9B	SNV	TYSND1,synonymous_variant,p.%3D,ENST00000287078,;TYSND1,synonymous_variant,p.%3D,ENST00000335494,;SAR1A,downstream_gene_variant,,ENST00000373242,;SAR1A,downstream_gene_variant,,ENST00000373238,;SAR1A,downstream_gene_variant,,ENST00000431664,;SAR1A,downstream_gene_variant,,ENST00000373241,;TYSND1,intron_variant,,ENST00000479086,;TYSND1,upstream_gene_variant,,ENST00000494143,;	549	103	109	SUCCESS
PDZD3	79849	.	GRCh37	11	119059807	119059807	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	29	0	ENST00000531114.1:c.1579C>T	p.Leu527=	p.L527=	ENST00000531114		527	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS53719.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACCTGGAG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14191:SF5,hmmpanther:PTHR14191,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000347742	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000355547	Transcript	.	.	ENSG00000172367	19891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NHRF4_HUMAN	PDZD3	HGNC	.	.	UPI000007079F	SNV	PDZD3,synonymous_variant,p.%3D,ENST00000525131,;PDZD3,synonymous_variant,p.%3D,ENST00000392817,;PDZD3,synonymous_variant,p.%3D,ENST00000322712,;PDZD3,synonymous_variant,p.%3D,ENST00000355547,;PDZD3,synonymous_variant,p.%3D,ENST00000531114,;CCDC153,downstream_gene_variant,,ENST00000415318,;CCDC153,downstream_gene_variant,,ENST00000503566,;PDZD3,non_coding_transcript_exon_variant,,ENST00000529098,;PDZD3,non_coding_transcript_exon_variant,,ENST00000527028,;PDZD3,non_coding_transcript_exon_variant,,ENST00000534790,;PDZD3,downstream_gene_variant,,ENST00000526279,;PDZD3,downstream_gene_variant,,ENST00000527308,;PDZD3,downstream_gene_variant,,ENST00000529573,;CCDC153,downstream_gene_variant,,ENST00000375140,;PDZD3,downstream_gene_variant,,ENST00000526836,;PDZD3,downstream_gene_variant,,ENST00000527951,;PDZD3,downstream_gene_variant,,ENST00000528730,;PDZD3,downstream_gene_variant,,ENST00000533688,;	1396	29	36	SUCCESS
RP11-707M1.1	0	.	GRCh37	11	49831720	49831720	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	63	130	0	ENST00000527477.1:n.1945C>A		p.*649*	ENST00000527477				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCCCCTA	NONE	.	.	.	.	.	.	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000527477	Transcript	.	.	ENSG00000205035	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-707M1.1	Clone_based_vega_gene	.	.	.	SNV	RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000527477,;RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000534201,;RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000530858,;	1945	130	185	SUCCESS
DDB1	1642	.	GRCh37	11	61097043	61097043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	66	0	ENST00000301764.7:c.341G>T	p.Arg114Leu	p.R114L	ENST00000301764	NM_001923.4	114	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS31576.1	341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCGGCCA	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF3,Pfam_domain:PF10433	.	.	ENSP00000301764	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000301764	Transcript	.	.	ENSG00000167986	2717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.45)	.	deleterious(0)	.	DDB1_HUMAN	DDB1	HGNC	F8WF81_HUMAN,F5H775_HUMAN,F5H6C5_HUMAN,F5H581_HUMAN,F5H2L3_HUMAN,F5H0Y5_HUMAN,F5GZY8_HUMAN,F5GZ34_HUMAN,F5GYG8_HUMAN	.	UPI0000000CB7	SNV	DDB1,missense_variant,p.Arg58Leu,ENST00000539426,;DDB1,missense_variant,p.Arg58Leu,ENST00000535283,;DDB1,missense_variant,p.Arg114Leu,ENST00000542337,;DDB1,missense_variant,p.Arg114Leu,ENST00000301764,;DDB1,intron_variant,,ENST00000543658,;DDB1,intron_variant,,ENST00000450997,;DDB1,upstream_gene_variant,,ENST00000541513,;DDB1,upstream_gene_variant,,ENST00000535174,;DAK,upstream_gene_variant,,ENST00000524968,;DDB1,downstream_gene_variant,,ENST00000543627,;DAK,upstream_gene_variant,,ENST00000394900,;DAK,upstream_gene_variant,,ENST00000532173,;DDB1,intron_variant,,ENST00000543162,;DDB1,upstream_gene_variant,,ENST00000545930,;DAK,upstream_gene_variant,,ENST00000530456,;DAK,upstream_gene_variant,,ENST00000530057,;DAK,upstream_gene_variant,,ENST00000525170,;DAK,upstream_gene_variant,,ENST00000529620,;DAK,upstream_gene_variant,,ENST00000533393,;DDB1,missense_variant,p.Arg114Leu,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000538129,;DDB1,non_coding_transcript_exon_variant,,ENST00000537120,;DAK,upstream_gene_variant,,ENST00000529121,;DDB1,upstream_gene_variant,,ENST00000539712,;DAK,upstream_gene_variant,,ENST00000531820,;	739	66	100	SUCCESS
GPR137	56834	.	GRCh37	11	64055923	64055923	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	42	0	ENST00000313074.3:c.895C>T	p.Arg299Trp	p.R299W	ENST00000313074	NM_020155.3	299	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS53655.1	1069	MUTECT|MUSE	.	TGCACCGGCCC	NONE	.	.	hmmpanther:PTHR15146,hmmpanther:PTHR15146:SF4	.	.	ENSP00000411827	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000411458	Transcript	.	.	ENSG00000173264	24300	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	G137A_HUMAN	GPR137	HGNC	F5H7S0_HUMAN,F5H4R8_HUMAN,F5H1V9_HUMAN,F5H1T3_HUMAN,F5H0Q1_HUMAN,F5GXW8_HUMAN,F5GXI8_HUMAN	.	UPI00017A7FAD	SNV	GPR137,missense_variant,p.Arg357Trp,ENST00000411458,;GPR137,missense_variant,p.Arg249Trp,ENST00000377702,;GPR137,missense_variant,p.Arg299Trp,ENST00000313074,;GPR137,missense_variant,p.Arg299Trp,ENST00000539851,;GPR137,missense_variant,p.Arg299Trp,ENST00000438980,;GPR137,synonymous_variant,p.%3D,ENST00000536282,;GPR137,downstream_gene_variant,,ENST00000543383,;GPR137,downstream_gene_variant,,ENST00000542190,;BAD,upstream_gene_variant,,ENST00000309032,;GPR137,downstream_gene_variant,,ENST00000535675,;KCNK4,upstream_gene_variant,,ENST00000539216,;KCNK4,upstream_gene_variant,,ENST00000394525,;GPR137,downstream_gene_variant,,ENST00000538032,;KCNK4,upstream_gene_variant,,ENST00000538767,;GPR137,downstream_gene_variant,,ENST00000538244,;BAD,upstream_gene_variant,,ENST00000394531,;KCNK4,upstream_gene_variant,,ENST00000422670,;BAD,upstream_gene_variant,,ENST00000394532,;GPR137,downstream_gene_variant,,ENST00000539833,;GPR137,downstream_gene_variant,,ENST00000546139,;BAD,upstream_gene_variant,,ENST00000544785,;GPR137,downstream_gene_variant,,ENST00000536667,;GPR137,downstream_gene_variant,,ENST00000540370,;GPR137,downstream_gene_variant,,ENST00000541952,;RP11-783K16.10,upstream_gene_variant,,ENST00000539086,;KCNK4,upstream_gene_variant,,ENST00000539651,;GPR137,3_prime_UTR_variant,,ENST00000546201,;GPR137,non_coding_transcript_exon_variant,,ENST00000545366,;GPR137,downstream_gene_variant,,ENST00000536017,;KCNK4,upstream_gene_variant,,ENST00000538846,;KCNK4,upstream_gene_variant,,ENST00000453423,;BAD,upstream_gene_variant,,ENST00000544271,;KCNK4,upstream_gene_variant,,ENST00000541349,;KCNK4,upstream_gene_variant,,ENST00000545838,;	1097	42	37	SUCCESS
SPTBN2	6712	.	GRCh37	11	66473243	66473243	+	synonymous_variant	Silent	SNP	G	G	A	rs148207416	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	82	0	ENST00000309996.2:c.1719C>T	p.His573=	p.H573=	ENST00000309996	NM_006946.2	573	caC/caT	0	A:0	.	.	.	.	A	H	protein_coding	YES	CCDS8150.1	1719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	AGCTCGTGCAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	A:0.0007	ENSP00000432568	.	14/38	.	.	.	.	.	.	.	.	rs148207416	14/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,synonymous_variant,p.%3D,ENST00000533211,;SPTBN2,synonymous_variant,p.%3D,ENST00000309996,;SPTBN2,synonymous_variant,p.%3D,ENST00000529997,;	2051	82	122	SUCCESS
PRSS23	11098	.	GRCh37	11	86519158	86519158	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200816081	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	71	162	0	ENST00000280258.5:c.473C>T	p.Thr158Met	p.T158M	ENST00000280258	NM_007173.4	158	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS8278.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCACGGGCT	NONE	byCluster	.	hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10,Gene3D:2.40.10.10,Pfam_domain:PF00089,Superfamily_domains:SSF50494	.	.	ENSP00000280258	.	2/2	.	.	.	.	.	.	.	.	rs200816081	2/2	PASS	ENST00000280258	Transcript	.	.	ENSG00000150687	14370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRS23_HUMAN	PRSS23	HGNC	E9PRR2_HUMAN,B7ZB43_HUMAN	.	UPI0000048EBC	SNV	PRSS23,missense_variant,p.Thr126Met,ENST00000441050,;PRSS23,missense_variant,p.Thr158Met,ENST00000280258,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000532234,;	898	162	180	SUCCESS
FAT3	120114	.	GRCh37	11	92531256	92531256	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs71473491	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	100	0	ENST00000298047.6:c.5077A>C	p.Ile1693Leu	p.I1693L	ENST00000298047		1693	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	.	5077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTAATCTCT	NONE	byCluster	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	rs71473491	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ile1693Leu,ENST00000298047,;FAT3,missense_variant,p.Ile1693Leu,ENST00000409404,;FAT3,missense_variant,p.Ile1543Leu,ENST00000525166,;	5094	100	139	SUCCESS
TAF1D	79101	.	GRCh37	11	93471289	93471289	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	70	0	ENST00000323981.2:c.445A>G	p.Ile149Val	p.I149V	ENST00000323981		149	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8293.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATTTTTC	NONE	.	.	hmmpanther:PTHR14562,Pfam_domain:PF15333	.	.	ENSP00000410409	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000448108	Transcript	.	.	ENSG00000166012	28759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	tolerated(0.37)	.	TAF1D_HUMAN	TAF1D	HGNC	H0YG36_HUMAN	.	UPI000006D0AF	SNV	TAF1D,missense_variant,p.Ile149Val,ENST00000448108,;TAF1D,3_prime_UTR_variant,,ENST00000532455,;C11orf54,upstream_gene_variant,,ENST00000530620,;C11orf54,upstream_gene_variant,,ENST00000528099,;C11orf54,upstream_gene_variant,,ENST00000533585,;C11orf54,upstream_gene_variant,,ENST00000530279,;C11orf54,upstream_gene_variant,,ENST00000331239,;TAF1D,downstream_gene_variant,,ENST00000527690,;C11orf54,upstream_gene_variant,,ENST00000527003,;C11orf54,upstream_gene_variant,,ENST00000531650,;C11orf54,upstream_gene_variant,,ENST00000540113,;C11orf54,upstream_gene_variant,,ENST00000528288,;C11orf54,upstream_gene_variant,,ENST00000354421,;SNORD5,upstream_gene_variant,,ENST00000459342,;SNORA40,upstream_gene_variant,,ENST00000388090,;SNORA18,upstream_gene_variant,,ENST00000384416,;MIR1304,upstream_gene_variant,,ENST00000408243,;TAF1D,intron_variant,,ENST00000532235,;TAF1D,upstream_gene_variant,,ENST00000530089,;TAF1D,upstream_gene_variant,,ENST00000546088,;C11orf54,upstream_gene_variant,,ENST00000531516,;TAF1D,missense_variant,p.Ile149Val,ENST00000323981,;TAF1D,missense_variant,p.Ile149Val,ENST00000527169,;TAF1D,missense_variant,p.Ile149Val,ENST00000526015,;TAF1D,3_prime_UTR_variant,,ENST00000534770,;TAF1D,non_coding_transcript_exon_variant,,ENST00000527068,;TAF1D,upstream_gene_variant,,ENST00000533794,;TAF1D,upstream_gene_variant,,ENST00000528734,;TAF1D,upstream_gene_variant,,ENST00000540232,;TAF1D,upstream_gene_variant,,ENST00000529794,;TAF1D,upstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000529508,;TAF1D,upstream_gene_variant,,ENST00000393259,;TAF1D,upstream_gene_variant,,ENST00000530769,;TAF1D,upstream_gene_variant,,ENST00000525928,;	1096	70	80	SUCCESS
CLEC1B	51266	.	GRCh37	12	10149501	10149501	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	55	0	ENST00000298527.6:c.382C>G	p.Gln128Glu	p.Q128E	ENST00000298527	NM_016509.3	128	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS41752.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTGCTTAC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF9,hmmpanther:PTHR22800,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000298527	.	4/6	.	.	.	.	.	.	.	.	COSM415678,COSM415679	4/6	PASS	ENST00000298527	Transcript	.	.	ENSG00000165682	24356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.022)	.	tolerated(0.16)	1,1	CLC1B_HUMAN	CLEC1B	HGNC	.	.	UPI000013E4EA	SNV	CLEC1B,missense_variant,p.Gln95Glu,ENST00000348658,;CLEC1B,missense_variant,p.Gln128Glu,ENST00000298527,;CLEC1B,missense_variant,p.Gln95Glu,ENST00000428126,;CLEC1B,missense_variant,p.Gln35Glu,ENST00000398937,;CLEC12A,downstream_gene_variant,,ENST00000449959,;	562	55	64	SUCCESS
POLR3B	55703	.	GRCh37	12	106903268	106903268	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	74	0	ENST00000228347.4:c.3343C>G	p.Gln1115Glu	p.Q1115E	ENST00000228347	NM_018082.5	1115	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9105.1	3343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCAGGAA	NONE	.	.	hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Pfam_domain:PF04560,Superfamily_domains:SSF64484	.	.	ENSP00000228347	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000228347	Transcript	.	.	ENSG00000013503	30348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	RPC2_HUMAN	POLR3B	HGNC	F8VRU2_HUMAN,B3KRQ8_HUMAN	.	UPI000000DB67	SNV	POLR3B,missense_variant,p.Gln1057Glu,ENST00000539066,;POLR3B,missense_variant,p.Gln1115Glu,ENST00000228347,;RP11-144F15.1,intron_variant,,ENST00000551505,;RP11-144F15.1,intron_variant,,ENST00000549203,;	3565	74	91	SUCCESS
PRB2	653247	.	GRCh37	12	11546159	11546159	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	13	152	0	ENST00000389362.4:c.853G>T	p.Gly285Ter	p.G285*	ENST00000389362	NM_006248.3	285	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS41757.2	853	MUTECT|MUSE	.	TGGTCCTTGTG	BUFFER|p.P267A|c.799C>G|3,BUFFER|p.P288A|c.862C>G|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	.	.	ENSP00000374013	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000389362	Transcript	.	.	ENSG00000121335	9338	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRB2_HUMAN	PRB2	HGNC	.	.	UPI0000EE5993	SNV	PRB2,stop_gained,p.Gly285Ter,ENST00000389362,;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	889	153	163	SUCCESS
RHOF	54509	.	GRCh37	12	122218862	122218862	+	synonymous_variant	Silent	SNP	G	G	A	rs760874745	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	42	110	0	ENST00000267205.2:c.387C>T	p.Ile129=	p.I129=	ENST00000267205	NM_019034.2	129	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9222.1	387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGATGAG	NONE	byFrequency	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF99,hmmpanther:PTHR24072,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000267205	.	4/5	.	.	.	.	.	.	.	.	rs760874745	4/5	PASS	ENST00000267205	Transcript	.	.	ENSG00000139725	15703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOF_HUMAN	RHOF	HGNC	.	.	UPI0000133891	SNV	RHOF,synonymous_variant,p.%3D,ENST00000537171,;RHOF,synonymous_variant,p.%3D,ENST00000267205,;RHOF,synonymous_variant,p.%3D,ENST00000541657,;RHOF,synonymous_variant,p.%3D,ENST00000546227,;RHOF,synonymous_variant,p.%3D,ENST00000537265,;TMEM120B,3_prime_UTR_variant,,ENST00000449592,;RHOF,downstream_gene_variant,,ENST00000535560,;TMEM120B,downstream_gene_variant,,ENST00000541467,;TMEM120B,downstream_gene_variant,,ENST00000540377,;TMEM120B,non_coding_transcript_exon_variant,,ENST00000538055,;TMEM120B,downstream_gene_variant,,ENST00000416147,;TMEM120B,downstream_gene_variant,,ENST00000411958,;TMEM120B,downstream_gene_variant,,ENST00000342607,;	1016	110	110	SUCCESS
AACS	65985	.	GRCh37	12	125621327	125621327	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	71	0	ENST00000316519.6:c.1798G>T	p.Val600Phe	p.V600F	ENST00000316519	NM_023928.3	600	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9263.1	1798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGGTTAAG	NONE	.	.	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Gene3D:3.30.300.30,TIGRFAM_domain:TIGR01217,Superfamily_domains:SSF56801	.	.	ENSP00000324842	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000316519	Transcript	.	.	ENSG00000081760	21298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	tolerated(0.07)	.	AACS_HUMAN	AACS	HGNC	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN	.	UPI0000049787	SNV	AACS,missense_variant,p.Val65Phe,ENST00000539251,;AACS,missense_variant,p.Val198Phe,ENST00000316543,;AACS,missense_variant,p.Val600Phe,ENST00000316519,;AACS,missense_variant,p.Val155Phe,ENST00000536118,;AACS,intron_variant,,ENST00000261686,;AACS,intron_variant,,ENST00000543665,;AACS,intron_variant,,ENST00000545511,;AACS,downstream_gene_variant,,ENST00000538851,;AACS,downstream_gene_variant,,ENST00000398953,;	2004	71	88	SUCCESS
ZNF10	7556	.	GRCh37	12	133728487	133728487	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	83	0	ENST00000248211.6:c.253C>T	p.Pro85Ser	p.P85S	ENST00000248211	NM_015394.4	85	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	.	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCCTGGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124	.	.	ENSP00000457704	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000540096	Transcript	.	.	ENSG00000256825	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.12)	.	.	CTD-2140B24.4	Clone_based_vega_gene	E7EV44_HUMAN,Q9H337_HUMAN,F5H467_HUMAN,F5H311_HUMAN,F5H0R3_HUMAN,F5GZ75_HUMAN	.	UPI0001AE6BD2	SNV	ZNF268,missense_variant,p.Pro85Ser,ENST00000416488,;ZNF10,missense_variant,p.Pro85Ser,ENST00000426665,;CTD-2140B24.4,missense_variant,p.Pro85Ser,ENST00000540096,;ZNF10,missense_variant,p.Pro85Ser,ENST00000402932,;ZNF10,missense_variant,p.Pro85Ser,ENST00000248211,;ZNF10,missense_variant,p.Pro43Ser,ENST00000537119,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000540609,;ZNF10,downstream_gene_variant,,ENST00000538918,;ZNF10,downstream_gene_variant,,ENST00000536704,;ZNF10,downstream_gene_variant,,ENST00000540927,;	343	83	66	SUCCESS
H2AFJ	0	.	GRCh37	12	14927760	14927760	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs371368734	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	70	145	0	ENST00000544848.1:c.356A>G	p.Lys119Arg	p.K119R	ENST00000544848	NM_177925.2	119	aAg/aGg	0	G:0.0002	.	.	.	.	G	K/R	protein_coding	YES	CCDS31752.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAAGAAGA	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Gene3D:1.10.20.10,SMART_domains:SM00414	.	G:0	ENSP00000438553	.	1/1	.	.	.	.	.	.	.	.	rs371368734	1/1	PASS	ENST00000544848	Transcript	.	.	ENSG00000246705	14456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.1)	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	SNV	H2AFJ,missense_variant,p.Lys119Arg,ENST00000544848,;HIST4H4,upstream_gene_variant,,ENST00000539745,;HIST4H4,upstream_gene_variant,,ENST00000537853,;HIST4H4,upstream_gene_variant,,ENST00000541592,;HIST4H4,upstream_gene_variant,,ENST00000540565,;H2AFJ,missense_variant,p.Lys119Arg,ENST00000389078,;H2AFJ,missense_variant,p.Lys82Arg,ENST00000501744,;HIST4H4,upstream_gene_variant,,ENST00000358064,;	491	145	148	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43846185	43846185	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	45	66	0	ENST00000389420.3:c.1971T>C	p.Tyr657=	p.Y657=	ENST00000389420	NM_025003.3	657	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS31778.2	1971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAATAGAG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165	.	.	ENSP00000374071	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;	1971	66	119	SUCCESS
PUS7L	83448	.	GRCh37	12	44148379	44148379	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750720540	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	16	141	0	ENST00000344862.5:c.670G>T	p.Ala224Ser	p.A224S	ENST00000344862	NM_031292.4	224	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8743.1	670	MUTECT|MUSE|VARSCANS	.	CTTTGCATCCA	NONE	.	.	PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326:SF5,hmmpanther:PTHR13326	.	.	ENSP00000415899	.	2/9	.	.	.	.	.	.	.	.	rs750720540	2/9	PASS	ENST00000416848	Transcript	.	.	ENSG00000129317	25276	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.985)	.	deleterious(0.04)	.	PUS7L_HUMAN	PUS7L	HGNC	F8VZA0_HUMAN,F8VWC0_HUMAN,F8VW99_HUMAN,F8VP66_HUMAN,B3KUJ1_HUMAN	.	UPI0000037C53	SNV	PUS7L,missense_variant,p.Ala224Ser,ENST00000416848,;PUS7L,missense_variant,p.Ala224Ser,ENST00000344862,;PUS7L,missense_variant,p.Ala224Ser,ENST00000553166,;PUS7L,missense_variant,p.Ala224Ser,ENST00000551923,;PUS7L,intron_variant,,ENST00000431332,;PUS7L,intron_variant,,ENST00000547156,;PUS7L,intron_variant,,ENST00000550784,;IRAK4,upstream_gene_variant,,ENST00000440781,;PUS7L,downstream_gene_variant,,ENST00000549868,;IRAK4,upstream_gene_variant,,ENST00000551736,;IRAK4,upstream_gene_variant,,ENST00000448290,;IRAK4,upstream_gene_variant,,ENST00000550616,;IRAK4,upstream_gene_variant,,ENST00000431837,;IRAK4,upstream_gene_variant,,ENST00000552309,;IRAK4,upstream_gene_variant,,ENST00000546780,;IRAK4,upstream_gene_variant,,ENST00000547101,;IRAK4,upstream_gene_variant,,ENST00000550361,;IRAK4,upstream_gene_variant,,ENST00000547521,;IRAK4,upstream_gene_variant,,ENST00000550615,;IRAK4,upstream_gene_variant,,ENST00000550386,;	1159	141	202	SUCCESS
KMT2D	8085	.	GRCh37	12	49427679	49427679	+	synonymous_variant	Silent	SNP	C	C	T	rs1555189181	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	38	1	ENST00000301067.7:c.10809G>A	p.Gln3603=	p.Q3603=	ENST00000301067	NM_003482.3	3603	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS44873.1	10809	MUTECT|MUSE	.	TGCTGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	COSM940018,COSM940017	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	10809	39	56	SUCCESS
NALCN	259232	.	GRCh37	13	101944387	101944387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	65	112	1	ENST00000251127.6:c.1001A>T	p.Gln334Leu	p.Q334L	ENST00000251127	NM_052867.2	334	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9498.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTTGTTGA	NONE	.	.	hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037,Gene3D:1.20.120.350	.	.	ENSP00000251127	.	9/44	.	.	.	.	.	.	.	.	.	9/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.778)	.	deleterious(0)	.	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,missense_variant,p.Gln334Leu,ENST00000251127,;NALCN,missense_variant,p.Gln334Leu,ENST00000376196,;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	1083	113	145	SUCCESS
EFNB2	1948	.	GRCh37	13	107187266	107187266	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	48	90	0	ENST00000245323.4:c.47del	p.Leu16Ter	p.L16*	ENST00000245323	NM_004093.3	16	tTg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS9507.1	47	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCATCAAAACA	NONE	.	.	hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304	.	.	ENSP00000245323	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	deletion	EFNB2,frameshift_variant,p.Leu16Ter,ENST00000245323,;	197	90	156	SUCCESS
TPTE2P6	374491	.	GRCh37	13	25161381	25161381	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	99	223	0	ENST00000440905.1:n.809C>A		p.*270*	ENST00000440905				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCACAAG	NONE	.	.	.	.	.	.	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000453498	Transcript	.	.	ENSG00000243008	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-556N21.1	Clone_based_vega_gene	.	.	.	SNV	RP11-556N21.1,non_coding_transcript_exon_variant,,ENST00000453498,;TPTE2P6,non_coding_transcript_exon_variant,,ENST00000440905,;TPTE2P6,non_coding_transcript_exon_variant,,ENST00000450973,;TPTE2P6,non_coding_transcript_exon_variant,,ENST00000445572,;	905	223	295	SUCCESS
OR11H6	122748	.	GRCh37	14	20692318	20692318	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs758747639	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	35	45	0	ENST00000315519.2:c.453del	p.Ser152ProfsTer3	p.S152Pfs*3	ENST00000315519	NM_001004480.1	150	taC/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS32033.1	450	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACTACCCCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF90,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000319071	.	1/1	.	.	.	.	.	.	.	.	rs758747639	1/1	PASS	ENST00000315519	Transcript	.	.	ENSG00000176219	15349	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O11H6_HUMAN	OR11H6	HGNC	.	.	UPI000004B1F1	deletion	OR11H6,frameshift_variant,p.Ser152ProfsTer3,ENST00000315519,;	528	45	112	SUCCESS
CDKN3	1033	.	GRCh37	14	54866651	54866651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	143	331	1	ENST00000335183.6:c.49G>A	p.Glu17Lys	p.E17K	ENST00000335183	NM_005192.3	17	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9716.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGAAGAG	NONE	.	.	PIRSF_domain:PIRSF037322,Pfam_domain:PF05706,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF24	.	.	ENSP00000335357	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000335183	Transcript	.	.	ENSG00000100526	1791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.02)	.	CDKN3_HUMAN	CDKN3	HGNC	Q9BY34_HUMAN	.	UPI000000D8BB	SNV	CDKN3,missense_variant,p.Glu17Lys,ENST00000541304,;CDKN3,missense_variant,p.Glu17Lys,ENST00000335183,;CDKN3,missense_variant,p.Glu17Lys,ENST00000556102,;CDKN3,missense_variant,p.Glu17Lys,ENST00000543789,;CDKN3,missense_variant,p.Glu17Lys,ENST00000458126,;CDKN3,intron_variant,,ENST00000442975,;CDKN3,non_coding_transcript_exon_variant,,ENST00000556305,;CDKN3,non_coding_transcript_exon_variant,,ENST00000216414,;CDKN3,intron_variant,,ENST00000555837,;	163	332	345	SUCCESS
PRKXP1	441733	.	GRCh37	15	101098994	101098994	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	45	46	0	ENST00000561423.2:n.166G>C		p.*56*	ENST00000561423				0	.	.	.	.	.	G	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCCACGG	NONE	.	1897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000363225	Transcript	.	.	ENSG00000200095	47144	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-181P	HGNC	.	.	.	SNV	RNU6-181P,downstream_gene_variant,,ENST00000363225,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000559349,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000557839,;LINS,downstream_gene_variant,,ENST00000560783,;PRKXP1,non_coding_transcript_exon_variant,,ENST00000561423,;	.	46	88	SUCCESS
MKRN3	7681	.	GRCh37	15	23812175	23812175	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	105	0	ENST00000314520.3:c.1246T>C	p.Cys416Arg	p.C416R	ENST00000314520	NM_005664.3	416	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS10013.1	1246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACATGCTTT	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38,Gene3D:1m9oA00,SMART_domains:SM00356	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,missense_variant,p.Cys416Arg,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	1722	105	99	SUCCESS
MAP1A	4130	.	GRCh37	15	43815343	43815343	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	77	141	0	ENST00000300231.5:c.1672C>A	p.Pro558Thr	p.P558T	ENST00000300231		558	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS42031.1	1672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGCCATTC	NONE	.	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,missense_variant,p.Pro558Thr,ENST00000399453,;MAP1A,missense_variant,p.Pro558Thr,ENST00000300231,;MAP1A,missense_variant,p.Pro796Thr,ENST00000382031,;	2122	142	169	SUCCESS
USP8	9101	.	GRCh37	15	50789399	50789401	+	inframe_deletion	In_Frame_Del	DEL	ACC	ACC	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	ACC	ACC	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	95	0	ENST00000307179.4:c.3012_3014del	p.Pro1005del	p.P1005del	ENST00000307179		1003	ttACCa/tta	0	.	.	.	.	.	-	LP/L	protein_coding	YES	CCDS10137.1	3009-3011	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|RADIA*|VARSCANS*	.	GAAGTTACCACCTG	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006:SF350,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	.	.	ENSP00000405537	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000433963	Transcript	1	.	ENSG00000138592	12631	3	.	MODERATE	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	UBP8_HUMAN	USP8	HGNC	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN	.	UPI0000030306	deletion	USP8,inframe_deletion,p.Pro1005del,ENST00000396444,;USP8,inframe_deletion,p.Pro1005del,ENST00000433963,;USP8,inframe_deletion,p.Pro899del,ENST00000425032,;USP8,inframe_deletion,p.Pro1005del,ENST00000307179,;USP50,downstream_gene_variant,,ENST00000532404,;RP11-562A8.5,upstream_gene_variant,,ENST00000560159,;RP11-562A8.4,non_coding_transcript_exon_variant,,ENST00000560380,;USP50,downstream_gene_variant,,ENST00000530218,;USP8,non_coding_transcript_exon_variant,,ENST00000419830,;USP8,upstream_gene_variant,,ENST00000560379,;USP50,downstream_gene_variant,,ENST00000559105,;	3509-3511	95	110	SUCCESS
MEGF11	84465	.	GRCh37	15	66274611	66274611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	51	0	ENST00000409699.2:c.610T>A	p.Cys204Ser	p.C204S	ENST00000409699		204	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS10213.2	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCACTCGC	NONE	.	.	PROSITE_profiles:PS50027,PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF10,hmmpanther:PTHR24035,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2gy5A03,Pfam_domain:PF12661,SMART_domains:SM00180,SMART_domains:SM00181,Prints_domain:PR00011	.	.	ENSP00000386908	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000409699	Transcript	.	.	ENSG00000157890	29635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MEG11_HUMAN	MEGF11	HGNC	C9JYE7_HUMAN	.	UPI00001FE6DA	SNV	MEGF11,missense_variant,p.Cys204Ser,ENST00000409699,;MEGF11,missense_variant,p.Cys204Ser,ENST00000360698,;MEGF11,missense_variant,p.Cys129Ser,ENST00000395625,;MEGF11,missense_variant,p.Cys204Ser,ENST00000422354,;MEGF11,missense_variant,p.Cys129Ser,ENST00000288745,;MEGF11,5_prime_UTR_variant,,ENST00000395614,;	783	51	49	SUCCESS
SMAD3	4088	.	GRCh37	15	67457388	67457388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	53	0	ENST00000327367.4:c.362G>T	p.Cys121Phe	p.C121F	ENST00000327367	NM_005902.3	121	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS10222.1	362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTGCGTGA	NONE	.	.	Superfamily_domains:0040928,SMART_domains:SM00523,Gene3D:1ozjA00,Pfam_domain:PF03165,hmmpanther:PTHR13703:SF25,hmmpanther:PTHR13703,PROSITE_profiles:PS51075	.	.	ENSP00000332973	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000327367	Transcript	1	.	ENSG00000166949	6769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	SMAD3_HUMAN	SMAD3	HGNC	Q68DS8_HUMAN,H3BP09_HUMAN,H0YNV1_HUMAN,H0YMP2_HUMAN,H0YL71_HUMAN,H0YKE2_HUMAN	.	UPI0000023A91	SNV	SMAD3,missense_variant,p.Cys16Phe,ENST00000558739,;SMAD3,missense_variant,p.Cys16Phe,ENST00000558894,;SMAD3,missense_variant,p.Cys121Phe,ENST00000327367,;SMAD3,missense_variant,p.Cys16Phe,ENST00000540846,;SMAD3,missense_variant,p.Cys77Phe,ENST00000439724,;SMAD3,missense_variant,p.Cys16Phe,ENST00000559460,;SMAD3,missense_variant,p.Cys16Phe,ENST00000560175,;SMAD3,downstream_gene_variant,,ENST00000559092,;SMAD3,upstream_gene_variant,,ENST00000558428,;SMAD3,upstream_gene_variant,,ENST00000558827,;SMAD3,upstream_gene_variant,,ENST00000537194,;SMAD3,non_coding_transcript_exon_variant,,ENST00000559937,;	672	53	49	SUCCESS
MYO9A	4649	.	GRCh37	15	72231259	72231259	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770800325	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	33	0	ENST00000356056.5:c.2312G>A	p.Arg771Gln	p.R771Q	ENST00000356056	NM_006901.3	771	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10239.1	2312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCGGGTT	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,SMART_domains:SM00242	.	.	ENSP00000348349	.	16/42	.	.	.	.	.	.	.	.	rs770800325	16/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.Arg771Gln,ENST00000424560,;MYO9A,missense_variant,p.Arg771Gln,ENST00000564571,;MYO9A,missense_variant,p.Arg391Gln,ENST00000566885,;MYO9A,missense_variant,p.Arg771Gln,ENST00000356056,;MYO9A,missense_variant,p.Arg752Gln,ENST00000444904,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000566744,;MYO9A,non_coding_transcript_exon_variant,,ENST00000565528,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563648,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567095,;	2785	33	73	SUCCESS
POLG	5428	.	GRCh37	15	89866069	89866069	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	66	0	ENST00000268124.5:c.2330G>A	p.Gly777Asp	p.G777D	ENST00000268124	NM_001126131.1	777	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS10350.1	2330	MUTECT|MUSE	.	GGGTGCCATCC	NONE	.	.	Superfamily_domains:SSF56672,PIRSF_domain:PIRSF000797,Pfam_domain:PF00476,hmmpanther:PTHR10267:SF0,hmmpanther:PTHR10267	.	.	ENSP00000268124	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000268124	Transcript	1	.	ENSG00000140521	9179	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	DPOG1_HUMAN	POLG	HGNC	E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN	.	UPI000000D9E8	SNV	POLG,missense_variant,p.Gly777Asp,ENST00000268124,;POLG,missense_variant,p.Gly777Asp,ENST00000442287,;POLG,missense_variant,p.Gly197Asp,ENST00000526314,;POLG,missense_variant,p.Gly34Asp,ENST00000528881,;POLG,missense_variant,p.Gly30Asp,ENST00000530715,;POLG,3_prime_UTR_variant,,ENST00000526398,;POLG,intron_variant,,ENST00000532584,;POLG,downstream_gene_variant,,ENST00000533857,;POLG,downstream_gene_variant,,ENST00000526573,;POLG,upstream_gene_variant,,ENST00000530292,;POLG,downstream_gene_variant,,ENST00000532363,;	2664	66	42	SUCCESS
TICRR	90381	.	GRCh37	15	90168109	90168109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149974689	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	51	79	0	ENST00000268138.7:c.4568G>A	p.Arg1523His	p.R1523H	ENST00000268138		1523	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS10352.2	4568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGTGACG	NONE	byCluster	.	hmmpanther:PTHR21556	.	A:0.0001	ENSP00000268138	.	20/22	.	.	.	.	.	.	.	.	rs149974689	20/22	PASS	ENST00000268138	Transcript	.	.	ENSG00000140534	28704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.17)	.	TICRR_HUMAN	TICRR	HGNC	.	.	UPI0000D61399	SNV	TICRR,missense_variant,p.Arg1522His,ENST00000560985,;TICRR,missense_variant,p.Arg1523His,ENST00000268138,;KIF7,downstream_gene_variant,,ENST00000394412,;KIF7,intron_variant,,ENST00000558928,;TICRR,upstream_gene_variant,,ENST00000561095,;	4673	79	103	SUCCESS
C15orf32	145858	.	GRCh37	15	93015518	93015518	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778203236	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	83	174	0	ENST00000333334.2:c.140C>T	p.Ala47Val	p.A47V	ENST00000333334	NM_153040.2	47	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10373.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCGAGGC	NONE	.	.	.	.	.	ENSP00000330267	.	1/3	.	.	.	.	.	.	.	.	rs778203236	1/3	PASS	ENST00000333334	Transcript	.	.	ENSG00000183643	26549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.72)	.	CO032_HUMAN	C15orf32	HGNC	.	.	UPI0000072820	SNV	C15orf32,missense_variant,p.Ala47Val,ENST00000556865,;C15orf32,missense_variant,p.Ala47Val,ENST00000333334,;ST8SIA2,downstream_gene_variant,,ENST00000268164,;RP11-763K15.1,upstream_gene_variant,,ENST00000554440,;	635	174	177	SUCCESS
GSPT1	2935	.	GRCh37	16	11991733	11991750	+	splice_acceptor_variant,5_prime_UTR_variant,intron_variant	Splice_Site	DEL	TTGAACCTAGACAAGAGA	TTGAACCTAGACAAGAGA	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	TTGAACCTAGACAAGAGA	TTGAACCTAGACAAGAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	135	70	173	0	ENST00000420576.2:c.-20-12_-15del		p.X7_splice	ENST00000420576	NM_001130007.1	7		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45412.1	?-400	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAATTTGAACCTAGACAAGAGATTGAA	NONE	.	.	.	.	.	ENSP00000398131	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000434724	Transcript	.	.	ENSG00000103342	4621	.	.	HIGH	2/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERF3A_HUMAN	GSPT1	HGNC	.	.	UPI000049DE01	deletion	GSPT1,splice_acceptor_variant,,ENST00000439887,;GSPT1,splice_acceptor_variant,,ENST00000562169,;GSPT1,splice_acceptor_variant,,ENST00000420576,;GSPT1,splice_acceptor_variant,,ENST00000434724,;GSPT1,splice_acceptor_variant,,ENST00000568849,;GSPT1,coding_sequence_variant,,ENST00000565267,;GSPT1,5_prime_UTR_variant,,ENST00000563468,;RP11-166B2.8,downstream_gene_variant,,ENST00000574364,;GSPT1,upstream_gene_variant,,ENST00000567631,;	?-600	173	205	SUCCESS
GPR139	124274	.	GRCh37	16	20043728	20043728	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	67	105	0	ENST00000570682.1:c.391T>C	p.Cys131Arg	p.C131R	ENST00000570682	NM_001002911.2	131	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS32398.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAGACAG	BUFFER|p.I128I|c.384C>T|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22751:SF49,hmmpanther:PTHR22751,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000458791	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000570682	Transcript	.	.	ENSG00000180269	19995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	GP139_HUMAN	GPR139	HGNC	.	.	UPI000004C566	SNV	GPR139,missense_variant,p.Cys131Arg,ENST00000570682,;GPR139,3_prime_UTR_variant,,ENST00000326571,;	692	105	138	SUCCESS
CDH11	1009	.	GRCh37	16	65026819	65026819	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	26	0	ENST00000268603.4:c.642A>G		p.X214_splice	ENST00000268603	NM_001797.2	214	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10803.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCTGTCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268603	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000567934,;CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,synonymous_variant,p.%3D,ENST00000268603,;CDH11,synonymous_variant,p.%3D,ENST00000566827,;CDH11,splice_region_variant,,ENST00000569128,;	1258	26	51	SUCCESS
SLC52A1	55065	.	GRCh37	17	4937150	4937150	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370188723	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	52	113	0	ENST00000254853.5:c.634C>T	p.Arg212Trp	p.R212W	ENST00000254853	NM_017986.3	212	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS11066.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGGAAGG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF5,hmmpanther:PTHR12929	.	A:0.0001	ENSP00000399979	.	3/5	.	.	.	.	.	.	.	.	rs370188723	3/5	PASS	ENST00000424747	Transcript	.	.	ENSG00000132517	30225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.19)	.	S52A1_HUMAN	SLC52A1	HGNC	.	.	UPI000013CE68	SNV	SLC52A1,missense_variant,p.Arg212Trp,ENST00000512825,;SLC52A1,missense_variant,p.Arg212Trp,ENST00000424747,;SLC52A1,missense_variant,p.Arg212Trp,ENST00000254853,;SLC52A1,non_coding_transcript_exon_variant,,ENST00000575919,;SLC52A1,non_coding_transcript_exon_variant,,ENST00000573674,;	1347	113	72	SUCCESS
TLK2	11011	.	GRCh37	17	60685417	60685417	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	88	209	0	ENST00000326270.9:c.2053C>T	p.Gln685Ter	p.Q685*	ENST00000326270	NM_001284333.1	685	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11633.1	1987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACCAGTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22974:SF20,hmmpanther:PTHR22974,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000275780	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000346027	Transcript	.	.	ENSG00000146872	11842	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLK2_HUMAN	TLK2	HGNC	J3QS73_HUMAN,J3QQN4_HUMAN,J3QLK5_HUMAN,J3KST4_HUMAN	.	UPI00001B6B0F	SNV	TLK2,stop_gained,p.Gln631Ter,ENST00000343388,;TLK2,stop_gained,p.Gln631Ter,ENST00000542523,;TLK2,stop_gained,p.Gln514Ter,ENST00000582809,;TLK2,stop_gained,p.Gln663Ter,ENST00000346027,;TLK2,stop_gained,p.Gln685Ter,ENST00000326270,;TLK2,downstream_gene_variant,,ENST00000581041,;TLK2,downstream_gene_variant,,ENST00000578931,;TLK2,non_coding_transcript_exon_variant,,ENST00000583310,;TLK2,upstream_gene_variant,,ENST00000580203,;	2258	209	319	SUCCESS
MARCH10	0	.	GRCh37	17	60814012	60814012	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1463598935	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	69	75	0	ENST00000311269.5:c.1217A>T	p.Lys406Ile	p.K406I	ENST00000311269	NM_152598.2	406	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS11635.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATTTGGTG	NONE	.	.	hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5	.	.	ENSP00000311496	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000311269	Transcript	.	.	ENSG00000173838	26655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	deleterious(0)	.	MARHA_HUMAN	MARCH10	HGNC	J3KTK3_HUMAN	.	UPI000013F13A	SNV	MARCH10,missense_variant,p.Lys444Ile,ENST00000583600,;MARCH10,missense_variant,p.Lys274Ile,ENST00000580520,;MARCH10,missense_variant,p.Lys406Ile,ENST00000456609,;MARCH10,missense_variant,p.Lys406Ile,ENST00000311269,;MARCH10,missense_variant,p.Lys405Ile,ENST00000544856,;MARCH10,upstream_gene_variant,,ENST00000579620,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000582564,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000577270,;RP11-156L14.1,downstream_gene_variant,,ENST00000584597,;RP11-156L14.1,downstream_gene_variant,,ENST00000579201,;	1492	75	122	SUCCESS
MFSD11	79157	.	GRCh37	17	74772613	74772613	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	33	42	0	ENST00000336509.4:c.1175A>T	p.Lys392Met	p.K392M	ENST00000336509	NM_001242533.1	392	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS11750.1	1175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAAGTTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23294,hmmpanther:PTHR23294:SF7,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000464932	.	12/13	.	.	.	.	.	.	.	.	COSM1290765	12/13	PASS	ENST00000588460	Transcript	.	.	ENSG00000092931	25458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	MFS11_HUMAN	MFSD11	HGNC	K7ESK9_HUMAN,K7ELU3_HUMAN	.	UPI0000073F31	SNV	MFSD11,missense_variant,p.Lys392Met,ENST00000588460,;MFSD11,missense_variant,p.Lys392Met,ENST00000336509,;MFSD11,missense_variant,p.Lys340Met,ENST00000355954,;MFSD11,missense_variant,p.Lys340Met,ENST00000593181,;MFSD11,missense_variant,p.Lys392Met,ENST00000586622,;MFSD11,missense_variant,p.Lys147Met,ENST00000585865,;MFSD11,missense_variant,p.Lys392Met,ENST00000590514,;MFSD11,non_coding_transcript_exon_variant,,ENST00000590070,;MFSD11,downstream_gene_variant,,ENST00000585958,;MFSD11,non_coding_transcript_exon_variant,,ENST00000585692,;MFSD11,downstream_gene_variant,,ENST00000588768,;MFSD11,downstream_gene_variant,,ENST00000588647,;	3217	42	57	SUCCESS
FASN	2194	.	GRCh37	17	80044945	80044945	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	106	0	ENST00000306749.2:c.3408G>T	p.Glu1136Asp	p.E1136D	ENST00000306749	NM_004104.4	1136	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11801.1	3408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCCTCCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227	.	.	ENSP00000304592	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.31)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Glu1136Asp,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000579410,;	3627	106	165	SUCCESS
CTC1	80169	.	GRCh37	17	8140795	8140795	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	33	91	0	ENST00000315684.8:c.690A>C	p.Leu230=	p.L230=	ENST00000315684	NM_025099.5	230	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS42259.1	690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAACTAGACT	NONE	.	.	hmmpanther:PTHR14865,Pfam_domain:PF15489	.	.	ENSP00000313759	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000315684	Transcript	.	.	ENSG00000178971	26169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTC1_HUMAN	CTC1	HGNC	.	.	UPI000041A9A9	SNV	CTC1,synonymous_variant,p.%3D,ENST00000315684,;CTC1,non_coding_transcript_exon_variant,,ENST00000581671,;CTC1,intron_variant,,ENST00000449476,;CTC1,downstream_gene_variant,,ENST00000584842,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,upstream_gene_variant,,ENST00000583254,;CTC1,upstream_gene_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000578240,;	698	91	50	SUCCESS
NOL4	8715	.	GRCh37	18	31599308	31599308	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1387546446	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	40	0	ENST00000261592.5:c.1030C>T	p.Arg344Ter	p.R344*	ENST00000261592	NM_001198546.1	344	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11907.2	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCGTTCCA	NONE	.	.	hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8	.	.	ENSP00000261592	.	6/11	.	.	.	.	.	.	.	.	COSM1217559	6/11	PASS	ENST00000261592	Transcript	.	.	ENSG00000101746	7870	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NOL4_HUMAN	NOL4	HGNC	.	.	UPI000059D504	SNV	NOL4,stop_gained,p.Arg344Ter,ENST00000261592,;NOL4,stop_gained,p.Arg344Ter,ENST00000589544,;NOL4,stop_gained,p.Arg230Ter,ENST00000269185,;NOL4,stop_gained,p.Arg270Ter,ENST00000538587,;NOL4,stop_gained,p.Arg59Ter,ENST00000535384,;NOL4,stop_gained,p.Arg189Ter,ENST00000535475,;NOL4,stop_gained,p.Arg93Ter,ENST00000586553,;NOL4,stop_gained,p.Arg328Ter,ENST00000590712,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	1328	40	63	SUCCESS
SOGA2	0	.	GRCh37	18	8777845	8777845	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	90	0	ENST00000306329.11:c.1452A>G	p.Arg484=	p.R484=	ENST00000306329		484	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS11841.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAAGAAG	NONE	.	.	hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	.	ENSP00000352927	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,synonymous_variant,p.%3D,ENST00000359865,;SOGA2,synonymous_variant,p.%3D,ENST00000517570,;SOGA2,synonymous_variant,p.%3D,ENST00000400050,;SOGA2,synonymous_variant,p.%3D,ENST00000306329,;SOGA2,5_prime_UTR_variant,,ENST00000306285,;SOGA2,non_coding_transcript_exon_variant,,ENST00000522146,;SOGA2,upstream_gene_variant,,ENST00000520495,;	514	90	94	SUCCESS
ABCA7	10347	.	GRCh37	19	1046943	1046943	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766735311	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	62	0	ENST00000263094.6:c.1765G>A	p.Ala589Thr	p.A589T	ENST00000263094	NM_019112.3	589	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12055.1	1765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGCGGTG	NONE	byFrequency	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Pfam_domain:PF12698	.	.	ENSP00000263094	.	14/47	.	.	.	.	.	.	.	.	rs766735311	14/47	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	tolerated(0.07)	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,missense_variant,p.Ala589Thr,ENST00000433129,;ABCA7,missense_variant,p.Ala589Thr,ENST00000263094,;ABCA7,missense_variant,p.Ala451Thr,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000531467,;ABCA7,downstream_gene_variant,,ENST00000524850,;ABCA7,intron_variant,,ENST00000533574,;ABCA7,downstream_gene_variant,,ENST00000525238,;ABCA7,downstream_gene_variant,,ENST00000526885,;ABCA7,downstream_gene_variant,,ENST00000527496,;	1996	62	83	SUCCESS
SBNO2	22904	.	GRCh37	19	1116910	1116910	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	18	0	ENST00000361757.3:c.1720C>T	p.Leu574=	p.L574=	ENST00000361757	NM_014963.2	574	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45894.1	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGCCCGA	NONE	.	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706	.	.	ENSP00000354733	.	16/32	.	.	.	.	.	.	.	.	.	16/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,synonymous_variant,p.%3D,ENST00000438103,;SBNO2,synonymous_variant,p.%3D,ENST00000587024,;SBNO2,synonymous_variant,p.%3D,ENST00000361757,;SBNO2,non_coding_transcript_exon_variant,,ENST00000592222,;SBNO2,downstream_gene_variant,,ENST00000590446,;	1958	18	22	SUCCESS
ZNF823	55552	.	GRCh37	19	11832646	11832646	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373947909	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	26	105	1	ENST00000341191.6:c.1703G>A	p.Arg568His	p.R568H	ENST00000341191	NM_001080493.2	568	cGt/cAt	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS45981.1	1703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACGGGAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF27,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	T:0.0002	ENSP00000340683	.	4/4	.	.	.	.	.	.	.	.	rs373947909	4/4	PASS	ENST00000341191	Transcript	.	.	ENSG00000197933	30936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	deleterious(0.03)	.	ZN823_HUMAN	ZNF823	HGNC	K7EN93_HUMAN,C9J2N8_HUMAN,B7Z8D4_HUMAN	.	UPI0000203407	SNV	ZNF823,missense_variant,p.Arg386His,ENST00000545749,;ZNF823,missense_variant,p.Arg568His,ENST00000341191,;ZNF823,downstream_gene_variant,,ENST00000440527,;ZNF823,downstream_gene_variant,,ENST00000586121,;ZNF823,downstream_gene_variant,,ENST00000431998,;CTC-499B15.6,downstream_gene_variant,,ENST00000586983,;	1857	106	119	SUCCESS
ZNF799	90576	.	GRCh37	19	12502454	12502454	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs755772439	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	41	49	0	ENST00000430385.3:c.758A>G	p.Tyr253Cys	p.Y253C	ENST00000430385	NM_001080821.2	253	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS45989.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATACAGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24379:SF16,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000411084	.	4/4	.	.	.	.	.	.	.	.	rs755772439	4/4	PASS	ENST00000430385	Transcript	.	.	ENSG00000196466	28071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	ZN799_HUMAN	ZNF799	HGNC	M0R135_HUMAN,D3YTF2_HUMAN	.	UPI000016184E	SNV	ZNF799,missense_variant,p.Tyr221Cys,ENST00000419318,;ZNF799,missense_variant,p.Tyr253Cys,ENST00000430385,;CTD-3105H18.16,downstream_gene_variant,,ENST00000595562,;ZNF799,downstream_gene_variant,,ENST00000595766,;ZNF799,non_coding_transcript_exon_variant,,ENST00000460935,;CTD-3105H18.14,intron_variant,,ENST00000435033,;	959	49	97	SUCCESS
ATP13A1	57130	.	GRCh37	19	19763484	19763484	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1364342483	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	42	0	ENST00000357324.6:c.2146G>A	p.Val716Ile	p.V716I	ENST00000357324	NM_020410.2	716	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS32970.2	2146	MUTECT|MUSE	.	GCCGACGAACT	NONE	.	.	Superfamily_domains:SSF81660,Superfamily_domains:SSF56784,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01657,Pfam_domain:PF12710,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82	.	.	ENSP00000349877	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.523)	.	deleterious(0.01)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Val598Ile,ENST00000291503,;ATP13A1,missense_variant,p.Val716Ile,ENST00000357324,;ATP13A1,downstream_gene_variant,,ENST00000455627,;ATP13A1,downstream_gene_variant,,ENST00000496082,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000491221,;ATP13A1,downstream_gene_variant,,ENST00000474955,;ATP13A1,downstream_gene_variant,,ENST00000497762,;ATP13A1,upstream_gene_variant,,ENST00000467160,;ATP13A1,downstream_gene_variant,,ENST00000492774,;ATP13A1,downstream_gene_variant,,ENST00000497156,;ATP13A1,downstream_gene_variant,,ENST00000471063,;	2173	42	48	SUCCESS
ZNF91	7644	.	GRCh37	19	23543878	23543878	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs996602124	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	73	107	0	ENST00000300619.7:c.1903T>C	p.Cys635Arg	p.C635R	ENST00000300619	NM_003430.2	635	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS42541.1	1903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACATTCTT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	deleterious(0.01)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Cys603Arg,ENST00000397082,;ZNF91,missense_variant,p.Cys635Arg,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	2109	107	159	SUCCESS
LSR	51599	.	GRCh37	19	35758051	35758051	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	61	162	0	ENST00000361790.3:c.1328G>T	p.Arg443Leu	p.R443L	ENST00000361790	NM_205834.3	443	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12450.1	1328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGATCTC	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF1	.	.	ENSP00000354575	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000361790	Transcript	.	.	ENSG00000105699	29572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.02)	.	LSR_HUMAN	LSR	HGNC	.	.	UPI000003117A	SNV	LSR,missense_variant,p.Arg385Leu,ENST00000347609,;LSR,missense_variant,p.Arg443Leu,ENST00000361790,;LSR,missense_variant,p.Arg294Leu,ENST00000605618,;LSR,missense_variant,p.Arg424Leu,ENST00000354900,;LSR,missense_variant,p.Arg287Leu,ENST00000427250,;LSR,missense_variant,p.Arg375Leu,ENST00000360798,;LSR,missense_variant,p.Arg423Leu,ENST00000602122,;USF2,upstream_gene_variant,,ENST00000222305,;USF2,upstream_gene_variant,,ENST00000379134,;USF2,upstream_gene_variant,,ENST00000343550,;USF2,upstream_gene_variant,,ENST00000596380,;LSR,downstream_gene_variant,,ENST00000599658,;USF2,upstream_gene_variant,,ENST00000595068,;USF2,upstream_gene_variant,,ENST00000594064,;USF2,upstream_gene_variant,,ENST00000599471,;USF2,upstream_gene_variant,,ENST00000599625,;USF2,upstream_gene_variant,,ENST00000598058,;AD000684.2,downstream_gene_variant,,ENST00000602262,;LSR,downstream_gene_variant,,ENST00000602044,;USF2,upstream_gene_variant,,ENST00000600341,;LSR,downstream_gene_variant,,ENST00000597933,;LSR,non_coding_transcript_exon_variant,,ENST00000597446,;USF2,upstream_gene_variant,,ENST00000607959,;USF2,upstream_gene_variant,,ENST00000602164,;USF2,upstream_gene_variant,,ENST00000597671,;USF2,upstream_gene_variant,,ENST00000593708,;	1487	162	134	SUCCESS
MAG	4099	.	GRCh37	19	35790731	35790731	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	21	0	ENST00000392213.3:c.690C>T	p.Gly230=	p.G230=	ENST00000392213	NM_002361.3	230	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12455.1	690	MUTECT|MUSE	.	GAGGGCTACGC	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000376048	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000392213	Transcript	.	.	ENSG00000105695	6783	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAG_HUMAN	MAG	HGNC	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN	.	UPI000012EB2F	SNV	MAG,synonymous_variant,p.%3D,ENST00000392213,;MAG,synonymous_variant,p.%3D,ENST00000537831,;MAG,synonymous_variant,p.%3D,ENST00000361922,;MAG,downstream_gene_variant,,ENST00000600291,;MAG,downstream_gene_variant,,ENST00000595791,;MAG,downstream_gene_variant,,ENST00000597035,;	849	21	22	SUCCESS
ZNF780B	163131	.	GRCh37	19	40540678	40540678	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	79	0	ENST00000434248.1:c.2088C>G	p.Pro696=	p.P696=	ENST00000434248	NM_001005851.2	696	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS46077.1	2088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGGGTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF203,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000391641	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434248	Transcript	.	.	ENSG00000128000	33109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z780B_HUMAN	ZNF780B	HGNC	M0R0W9_HUMAN,C9JTJ1_HUMAN	.	UPI000007137F	SNV	ZNF780B,synonymous_variant,p.%3D,ENST00000434248,;ZNF780B,synonymous_variant,p.%3D,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;	2154	79	115	SUCCESS
ZNF808	388558	.	GRCh37	19	53057402	53057402	+	synonymous_variant	Silent	SNP	A	A	G	rs375755660	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	57	105	0	ENST00000359798.4:c.1233A>G	p.Gln411=	p.Q411=	ENST00000359798	NM_001039886.3	411	caA/caG	0	G:0.0002	G:0	.	G:0	.	G	Q	protein_coding	YES	CCDS46167.1	1233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAATCAAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	G:0	G:0.0005	ENSP00000352846	G:0.001	5/5	.	.	.	.	.	.	.	.	rs375755660	5/5	PASS	ENST00000359798	Transcript	.	G:0.0002	ENSG00000198482	33230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,synonymous_variant,p.%3D,ENST00000359798,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,synonymous_variant,p.%3D,ENST00000487863,;	1413	105	114	SUCCESS
DPRX	503834	.	GRCh37	19	54140215	54140215	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	88	0	ENST00000376650.1:c.549T>C	p.Cys183=	p.C183=	ENST00000376650	NM_001012728.1	183	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS33103.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTTCATC	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF299	.	.	ENSP00000365838	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376650	Transcript	.	.	ENSG00000204595	32166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPRX_HUMAN	DPRX	HGNC	.	.	UPI00004ED62B	SNV	DPRX,synonymous_variant,p.%3D,ENST00000376650,;	600	88	101	SUCCESS
NLRP12	91662	.	GRCh37	19	54314219	54314219	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	74	0	ENST00000324134.6:c.694C>T	p.Leu232=	p.L232=	ENST00000324134	NM_144687.3	232	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12864.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGCATCA	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,synonymous_variant,p.%3D,ENST00000535162,;NLRP12,synonymous_variant,p.%3D,ENST00000391775,;NLRP12,synonymous_variant,p.%3D,ENST00000354278,;NLRP12,synonymous_variant,p.%3D,ENST00000391773,;NLRP12,synonymous_variant,p.%3D,ENST00000324134,;NLRP12,synonymous_variant,p.%3D,ENST00000391772,;NLRP12,synonymous_variant,p.%3D,ENST00000345770,;NLRP12,synonymous_variant,p.%3D,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	863	74	72	SUCCESS
NLRP7	199713	.	GRCh37	19	55450457	55450457	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	25	111	1	ENST00000340844.2:c.1730A>G	p.Glu577Gly	p.E577G	ENST00000340844	NM_206828.3	577	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS46183.1	1730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACTCATAC	NONE	.	.	hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000467123	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Glu577Gly,ENST00000590030,;NLRP7,missense_variant,p.Glu605Gly,ENST00000446217,;NLRP7,missense_variant,p.Glu577Gly,ENST00000588756,;NLRP7,missense_variant,p.Glu577Gly,ENST00000448121,;NLRP7,missense_variant,p.Glu577Gly,ENST00000328092,;NLRP7,missense_variant,p.Glu577Gly,ENST00000592784,;NLRP7,missense_variant,p.Glu577Gly,ENST00000340844,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Glu577Gly,ENST00000586379,;	2217	112	113	SUCCESS
AGL	178	.	GRCh37	1	100326816	100326816	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	9	0	ENST00000294724.4:c.83-243C>T		p.*28*	ENST00000294724	NM_000028.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS759.1	.	MUTECT|MUSE|VARSCANS	.	CGTTTCCAGGG	NONE	.	.	.	.	.	ENSP00000294724	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	MODIFIER	2/33	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,5_prime_UTR_variant,,ENST00000361522,;AGL,intron_variant,,ENST00000370163,;AGL,intron_variant,,ENST00000361302,;AGL,intron_variant,,ENST00000294724,;AGL,intron_variant,,ENST00000370165,;AGL,intron_variant,,ENST00000370161,;AGL,intron_variant,,ENST00000361915,;	.	9	22	SUCCESS
RNPC3	55599	.	GRCh37	1	104068797	104068797	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	57	156	0	ENST00000423855.2:c.105G>T	p.Pro35=	p.P35=	ENST00000423855	NM_017619.3	35	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS781.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGGCTGA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR16105:SF0,hmmpanther:PTHR16105,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000432886	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000533099	Transcript	.	.	ENSG00000185946	18666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM40_HUMAN	RNPC3	HGNC	E9PPV2_HUMAN	.	UPI000006E703	SNV	RNPC3,synonymous_variant,p.%3D,ENST00000524631,;RNPC3,synonymous_variant,p.%3D,ENST00000533099,;RNPC3,synonymous_variant,p.%3D,ENST00000531883,;RNPC3,synonymous_variant,p.%3D,ENST00000423855,;RNPC3,intron_variant,,ENST00000527062,;RN7SKP285,downstream_gene_variant,,ENST00000410137,;RP11-153F1.1,upstream_gene_variant,,ENST00000447322,;RP11-153F1.1,upstream_gene_variant,,ENST00000444810,;	341	156	131	SUCCESS
CERS2	29956	.	GRCh37	1	150941409	150941409	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	37	80	0	ENST00000271688.6:c.158G>A	p.Arg53Gln	p.R53Q	ENST00000271688	NM_181746.3	53	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS973.1	158	RADIA|MUTECT|MUSE	.	AGTATCGAACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12560:SF7,hmmpanther:PTHR12560,PIRSF_domain:PIRSF005225	.	.	ENSP00000271688	.	2/11	.	.	.	.	.	.	.	.	COSM1213120	2/11	PASS	ENST00000271688	Transcript	.	.	ENSG00000143418	14076	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	CERS2_HUMAN	CERS2	HGNC	Q5SZE6_HUMAN,Q5SZE3_HUMAN,Q5SZE2_HUMAN,Q5SZE1_HUMAN,H0YKH6_HUMAN	.	UPI0000001237	SNV	CERS2,missense_variant,p.Arg53Gln,ENST00000561294,;CERS2,missense_variant,p.Arg53Gln,ENST00000361419,;CERS2,missense_variant,p.Arg53Gln,ENST00000457392,;CERS2,missense_variant,p.Arg53Gln,ENST00000368954,;CERS2,missense_variant,p.Arg53Gln,ENST00000368949,;CERS2,missense_variant,p.Arg53Gln,ENST00000558062,;CERS2,missense_variant,p.Arg53Gln,ENST00000271688,;CERS2,missense_variant,p.Arg53Gln,ENST00000421609,;SETDB1,downstream_gene_variant,,ENST00000271640,;SETDB1,downstream_gene_variant,,ENST00000368969,;CERS2,upstream_gene_variant,,ENST00000560793,;RP11-316M1.3,upstream_gene_variant,,ENST00000412838,;RP11-316M1.12,downstream_gene_variant,,ENST00000560481,;RP11-316M1.12,downstream_gene_variant,,ENST00000561111,;CERS2,intron_variant,,ENST00000345896,;CERS2,upstream_gene_variant,,ENST00000482825,;CERS2,upstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000497314,;CERS2,upstream_gene_variant,,ENST00000559660,;CERS2,upstream_gene_variant,,ENST00000460664,;	545	80	159	SUCCESS
FLG	2312	.	GRCh37	1	152280892	152280892	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761306814	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	72	129	0	ENST00000368799.1:c.6470C>T	p.Ser2157Leu	p.S2157L	ENST00000368799	NM_002016.1	2157	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS30860.1	6470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCGATTGC	SITE|p.S2157L|c.6470C>T|4	byFrequency	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs761306814,COSM1159310	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.32)	.	.	0,1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser2157Leu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6506	129	196	SUCCESS
SCAMP3	10067	.	GRCh37	1	155227414	155227414	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	232	188	1	ENST00000302631.3:c.552C>T	p.Ala184=	p.A184=	ENST00000302631	NM_005698.3	184	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1105.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGGCGAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10687:SF6,hmmpanther:PTHR10687,Pfam_domain:PF04144	.	.	ENSP00000307275	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000302631	Transcript	.	.	ENSG00000116521	10565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCAM3_HUMAN	SCAMP3	HGNC	.	.	UPI000013E800	SNV	SCAMP3,synonymous_variant,p.%3D,ENST00000302631,;SCAMP3,synonymous_variant,p.%3D,ENST00000355379,;FAM189B,upstream_gene_variant,,ENST00000350210,;FAM189B,upstream_gene_variant,,ENST00000361361,;FAM189B,upstream_gene_variant,,ENST00000368368,;FAM189B,upstream_gene_variant,,ENST00000491082,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000472397,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000465312,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000490999,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000462151,;SCAMP3,intron_variant,,ENST00000478737,;SCAMP3,downstream_gene_variant,,ENST00000480219,;SCAMP3,downstream_gene_variant,,ENST00000497470,;FAM189B,upstream_gene_variant,,ENST00000472550,;FAM189B,upstream_gene_variant,,ENST00000481822,;FAM189B,upstream_gene_variant,,ENST00000487649,;	660	190	361	SUCCESS
OR6N2	81442	.	GRCh37	1	158746473	158746473	+	stop_lost	Nonstop_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	32	0	ENST00000339258.1:c.953G>C	p.Ter318SerextTer?	p.*318Sext*?	ENST00000339258	NM_001005278.1	318	tGa/tCa	0	.	.	.	.	.	G	*/S	protein_coding	YES	CCDS30906.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCAAAGA	NONE	.	.	.	.	.	ENSP00000344101	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000339258	Transcript	.	.	ENSG00000188340	15035	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6N2_HUMAN	OR6N2	HGNC	.	.	UPI0000041C8E	SNV	OR6N2,stop_lost,p.Ter318SerextTer?,ENST00000339258,;	953	32	83	SUCCESS
ATP2B4	493	.	GRCh37	1	203693084	203693084	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs147064623	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	33	70	0	ENST00000357681.5:c.3100T>C	p.Phe1034Leu	p.F1034L	ENST00000357681	NM_001684.4	1034	Ttc/Ctc	0	C:0.0007	C:0.0015	.	C:0	.	C	F/L	protein_coding	YES	CCDS1440.1	3100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTTCATT	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,Superfamily_domains:0049473	C:0	C:0	ENSP00000350310	C:0	19/21	.	.	.	.	.	.	.	.	rs147064623	19/21	PASS	ENST00000357681	Transcript	.	C:0.0004	ENSG00000058668	817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	C:0	tolerated(0.13)	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Phe1034Leu,ENST00000341360,;ATP2B4,missense_variant,p.Phe1022Leu,ENST00000367219,;ATP2B4,missense_variant,p.Phe1034Leu,ENST00000367218,;ATP2B4,missense_variant,p.Phe1034Leu,ENST00000357681,;ATP2B4,missense_variant,p.Phe21Leu,ENST00000458092,;ATP2B4,intron_variant,,ENST00000391954,;ATP2B4,upstream_gene_variant,,ENST00000356729,;ATP2B4,upstream_gene_variant,,ENST00000466407,;ATP2B4,upstream_gene_variant,,ENST00000484746,;	4223	70	133	SUCCESS
HHIPL2	79802	.	GRCh37	1	222716922	222716922	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764460110	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	101	0	ENST00000343410.6:c.931G>A	p.Val311Ile	p.V311I	ENST00000343410	NM_024746.3	311	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS1530.2	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACCTTCA	NONE	byFrequency	.	Superfamily_domains:0046203,Pfam_domain:PF07995,Gene3D:2.120.10.30,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	.	.	ENSP00000342118	.	2/9	.	.	.	.	.	.	.	.	rs764460110	2/9	PASS	ENST00000343410	Transcript	.	.	ENSG00000143512	25842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	tolerated(0.13)	.	HIPL2_HUMAN	HHIPL2	HGNC	.	.	UPI000004C60D	SNV	HHIPL2,missense_variant,p.Val311Ile,ENST00000343410,;HHIPL2,upstream_gene_variant,,ENST00000494899,;HHIPL2,upstream_gene_variant,,ENST00000468172,;	990	101	92	SUCCESS
EPHA8	2046	.	GRCh37	1	22902961	22902961	+	synonymous_variant	Silent	SNP	A	A	T	rs770915020	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	91	200	0	ENST00000166244.3:c.411A>T	p.Thr137=	p.T137=	ENST00000166244	NM_020526.3	137	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS225.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACACAAGA	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS51550	.	.	ENSP00000166244	.	3/17	.	.	.	.	.	.	.	.	rs770915020	3/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,synonymous_variant,p.%3D,ENST00000374644,;EPHA8,synonymous_variant,p.%3D,ENST00000538803,;EPHA8,synonymous_variant,p.%3D,ENST00000166244,;	483	200	206	SUCCESS
YARS	0	.	GRCh37	1	33246761	33246761	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	43	0	ENST00000373477.4:c.1043-15T>G		p.*348*	ENST00000373477	NM_003680.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS368.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAACCCC	NONE	.	.	.	.	.	ENSP00000362576	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373477	Transcript	.	.	ENSG00000134684	12840	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYYC_HUMAN	YARS	HGNC	.	.	UPI0000136762	SNV	YARS,intron_variant,,ENST00000373477,;YARS,non_coding_transcript_exon_variant,,ENST00000469100,;YARS,intron_variant,,ENST00000487404,;YARS,intron_variant,,ENST00000478828,;YARS,upstream_gene_variant,,ENST00000490826,;	.	43	63	SUCCESS
SIRPD	128646	.	GRCh37	20	1515074	1515074	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	43	0	ENST00000381623.3:c.591A>C	p.Lys197Asn	p.K197N	ENST00000381623		197	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS13018.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTATTTTGA	NONE	.	.	.	.	.	ENSP00000371036	.	4/4	.	.	.	.	.	.	.	.	COSM3840448	4/4	PASS	ENST00000381623	Transcript	.	.	ENSG00000125900	16248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	1	SIRPD_HUMAN	SIRPD	HGNC	.	.	UPI000013CBD7	SNV	SIRPD,missense_variant,p.Lys80Asn,ENST00000429387,;SIRPD,missense_variant,p.Lys198Asn,ENST00000381621,;SIRPD,missense_variant,p.Lys197Asn,ENST00000381623,;RP4-576H24.2,intron_variant,,ENST00000453770,;	1781	43	57	SUCCESS
WFDC6	140870	.	GRCh37	20	44168001	44168001	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	47	81	0	ENST00000372665.3:c.46T>C	p.Leu16=	p.L16=	ENST00000372665		16	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS13358.1	46	RADIA|MUTECT|MUSE	.	CCCCAAAAGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF205	.	.	ENSP00000361755	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000372670	Transcript	.	.	ENSG00000243543	16164	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WFDC6_HUMAN	WFDC6	HGNC	.	.	UPI0000071678	SNV	WFDC6,synonymous_variant,p.%3D,ENST00000600168,;WFDC6,synonymous_variant,p.%3D,ENST00000372670,;WFDC6,synonymous_variant,p.%3D,ENST00000372665,;EPPIN-WFDC6,intron_variant,,ENST00000504988,;EPPIN,intron_variant,,ENST00000555685,;EPPIN,downstream_gene_variant,,ENST00000336443,;EPPIN,downstream_gene_variant,,ENST00000354280,;EPPIN,downstream_gene_variant,,ENST00000409554,;EPPIN,downstream_gene_variant,,ENST00000496898,;HSPD1P21,downstream_gene_variant,,ENST00000436541,;RP3-461P17.6,upstream_gene_variant,,ENST00000437445,;	134	81	128	SUCCESS
WFDC6	140870	.	GRCh37	20	44168025	44168025	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	84	0	ENST00000372665.3:c.22C>T	p.Pro8Ser	p.P8S	ENST00000372665		8	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS13358.1	22	RADIA|MUTECT|MUSE	.	GATTGGCAGAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF205	.	.	ENSP00000361755	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000372670	Transcript	.	.	ENSG00000243543	16164	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	.	tolerated(0.86)	.	WFDC6_HUMAN	WFDC6	HGNC	.	.	UPI0000071678	SNV	WFDC6,missense_variant,p.Pro8Ser,ENST00000600168,;WFDC6,missense_variant,p.Pro8Ser,ENST00000372670,;WFDC6,missense_variant,p.Pro8Ser,ENST00000372665,;EPPIN-WFDC6,intron_variant,,ENST00000504988,;EPPIN,intron_variant,,ENST00000555685,;EPPIN,downstream_gene_variant,,ENST00000336443,;EPPIN,downstream_gene_variant,,ENST00000354280,;EPPIN,downstream_gene_variant,,ENST00000409554,;EPPIN,downstream_gene_variant,,ENST00000496898,;HSPD1P21,downstream_gene_variant,,ENST00000436541,;RP3-461P17.6,upstream_gene_variant,,ENST00000437445,;	110	84	134	SUCCESS
ZNF334	55713	.	GRCh37	20	45131451	45131451	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	36	59	0	ENST00000347606.4:c.527T>G	p.Leu176Trp	p.L176W	ENST00000347606	NM_018102.4	176	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS33480.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCAAATGA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,Superfamily_domains:SSF57667	.	.	ENSP00000255129	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000347606	Transcript	.	.	ENSG00000198185	15806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated(0.18)	.	ZN334_HUMAN	ZNF334	HGNC	M0R3E1_HUMAN	.	UPI000004A0FE	SNV	ZNF334,missense_variant,p.Leu199Trp,ENST00000593880,;ZNF334,missense_variant,p.Leu138Trp,ENST00000596323,;ZNF334,missense_variant,p.Leu176Trp,ENST00000347606,;ZNF334,missense_variant,p.Leu138Trp,ENST00000457685,;	710	59	90	SUCCESS
TP53RK	112858	.	GRCh37	20	45315607	45315607	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	112	1	ENST00000372114.3:c.547G>C	p.Asp183His	p.D183H	ENST00000372114	NM_033550.3	183	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS13401.1	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCTATGA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF06293,TIGRFAM_domain:TIGR03724,Gene3D:1.10.510.10,hmmpanther:PTHR12209,PROSITE_profiles:PS50011	.	.	ENSP00000361186	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372114	Transcript	.	.	ENSG00000172315	16197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRPK_HUMAN	TP53RK	HGNC	.	.	UPI0000035B7A	SNV	TP53RK,missense_variant,p.Asp183His,ENST00000372114,;TP53RK,3_prime_UTR_variant,,ENST00000372102,;RP1-28H20.3,upstream_gene_variant,,ENST00000606362,;	912	113	153	SUCCESS
PARD6B	84612	.	GRCh37	20	49354431	49354431	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	17	129	1	ENST00000371610.2:c.104C>A	p.Ser35Ter	p.S35*	ENST00000371610	NM_032521.2	35	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS33485.1	104	MUTECT|MUSE	.	AAGATCAAAAC	NONE	.	.	hmmpanther:PTHR14102:SF4,hmmpanther:PTHR14102,Gene3D:3.10.20.240,Pfam_domain:PF00564,SMART_domains:SM00666,Superfamily_domains:SSF54277	.	.	ENSP00000360672	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000371610	Transcript	.	.	ENSG00000124171	16245	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAR6B_HUMAN	PARD6B	HGNC	.	.	UPI000006FA7C	SNV	PARD6B,stop_gained,p.Ser35Ter,ENST00000396039,;PARD6B,stop_gained,p.Ser35Ter,ENST00000371610,;	347	130	168	SUCCESS
ZNF831	128611	.	GRCh37	20	57766716	57766716	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	65	0	ENST00000371030.2:c.642G>T	p.Leu214=	p.L214=	ENST00000371030	NM_178457.2	214	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42894.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	642	65	95	SUCCESS
PLCB1	23236	.	GRCh37	20	8782816	8782816	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	64	0	ENST00000338037.6:c.3423+11908G>A		p.*1141*	ENST00000338037	NM_015192.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13102.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGGCCAGG	NONE	.	.	.	.	.	ENSP00000338185	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODIFIER	31/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,3_prime_UTR_variant,,ENST00000378641,;PLCB1,3_prime_UTR_variant,,ENST00000378637,;PLCB1,intron_variant,,ENST00000338037,;PLCB1,3_prime_UTR_variant,,ENST00000487210,;	.	64	58	SUCCESS
KRTAP21-2	337978	.	GRCh37	21	32119357	32119357	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	58	0	ENST00000333892.2:c.164C>A	p.Ser55Tyr	p.S55Y	ENST00000333892	NM_181617.1	55	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS13605.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGAGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31294,hmmpanther:PTHR31294:SF5,Pfam_domain:PF11759	.	.	ENSP00000334287	.	1/1	.	.	.	.	.	.	.	.	COSM1534376	1/1	PASS	ENST00000333892	Transcript	.	.	ENSG00000187026	18946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.73)	1	KR212_HUMAN	KRTAP21-2	HGNC	.	.	UPI00001A9E4D	SNV	KRTAP21-2,missense_variant,p.Ser55Tyr,ENST00000333892,;KRTAP21-4P,upstream_gene_variant,,ENST00000454921,;	195	58	52	SUCCESS
KRTAP21-2	337978	.	GRCh37	21	32119370	32119393	+	inframe_deletion	In_Frame_Del	DEL	AGCCATAGCCACAGCCAGTTCCAT	AGCCATAGCCACAGCCAGTTCCAT	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	AGCCATAGCCACAGCCAGTTCCAT	AGCCATAGCCACAGCCAGTTCCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	60	0	ENST00000333892.2:c.128_151del	p.Tyr43_Gly50del	p.Y43_G50del	ENST00000333892	NM_181617.1	43	tATGGAACTGGCTGTGGCTATGGCTgt/tgt	0	.	.	.	.	.	-	YGTGCGYGC/C	protein_coding	YES	CCDS13605.1	128-151	VARSCANI*|PINDEL	.	ATCCACAGCCATAGCCACAGCCAGTTCCATAGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31294,hmmpanther:PTHR31294:SF5,Pfam_domain:PF11759	.	.	ENSP00000334287	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333892	Transcript	.	.	ENSG00000187026	18946	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR212_HUMAN	KRTAP21-2	HGNC	.	.	UPI00001A9E4D	deletion	KRTAP21-2,inframe_deletion,p.Tyr43_Gly50del,ENST00000333892,;KRTAP21-4P,upstream_gene_variant,,ENST00000454921,;	159-182	60	49	SUCCESS
KRTAP11-1	337880	.	GRCh37	21	32253392	32253392	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1485939635	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	69	81	1	ENST00000332378.4:c.452A>G	p.Tyr151Cys	p.Y151C	ENST00000332378	NM_175858.2	151	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13608.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGATACGTC	NONE	.	.	hmmpanther:PTHR19051:SF14,hmmpanther:PTHR19051,Pfam_domain:PF05287	.	.	ENSP00000330720	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332378	Transcript	.	.	ENSG00000182591	18922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.35)	.	KR111_HUMAN	KRTAP11-1	HGNC	.	.	UPI000003B46F	SNV	KRTAP11-1,missense_variant,p.Tyr151Cys,ENST00000332378,;	483	82	157	SUCCESS
MCM3AP	8888	.	GRCh37	21	47656824	47656824	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	63	0	ENST00000291688.1:c.5703C>G	p.Pro1901=	p.P1901=	ENST00000291688	NM_003906.3	1901	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13734.1	5703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGGGAAG	NONE	.	.	hmmpanther:PTHR12436:SF18,hmmpanther:PTHR12436	.	.	ENSP00000380820	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000397708	Transcript	.	.	ENSG00000160294	6946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GANP_HUMAN	MCM3AP	HGNC	N0GVG8_HUMAN,B3KWZ4_HUMAN	.	UPI000012ED4A	SNV	MCM3AP,synonymous_variant,p.%3D,ENST00000291688,;MCM3AP,synonymous_variant,p.%3D,ENST00000397708,;MCM3AP-AS1,intron_variant,,ENST00000414659,;MCM3AP-AS1,intron_variant,,ENST00000591223,;MCM3AP-AS1,intron_variant,,ENST00000444998,;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,intron_variant,,ENST00000432735,;MCM3AP-AS1,intron_variant,,ENST00000588753,;MCM3AP-AS1,intron_variant,,ENST00000455567,;MCM3AP-AS1,intron_variant,,ENST00000421927,;MCM3AP-AS1,downstream_gene_variant,,ENST00000420074,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000467026,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;	5958	63	61	SUCCESS
OR11H1	81061	.	GRCh37	22	16449600	16449600	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs200937709	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	48	268	0	ENST00000252835.4:c.205C>T	p.Arg69Ter	p.R69*	ENST00000252835	NM_001005239.1	69	Cga/Tga	0	A:0.0003	A:0	.	A:0	.	A	R/*	protein_coding	YES	CCDS33594.1	205	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCGCCGGT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0.001	A:0.0003	ENSP00000252835	A:0	1/1	.	.	.	.	.	.	.	.	rs200937709	1/1	PASS	ENST00000252835	Transcript	.	A:0.0002	ENSG00000130538	15404	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	O11H1_HUMAN	OR11H1	HGNC	.	.	UPI000004B1CF	SNV	OR11H1,stop_gained,p.Arg69Ter,ENST00000252835,;	206	268	326	SUCCESS
MYO18B	84700	.	GRCh37	22	26243585	26243585	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	53	0	ENST00000536101.1:c.3741C>T	p.Phe1247=	p.F1247=	ENST00000536101		1247	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS54507.1	3741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTCCACAT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000334563	.	20/44	.	.	.	.	.	.	.	.	.	20/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	3991	53	55	SUCCESS
OSM	5008	.	GRCh37	22	30659920	30659920	+	synonymous_variant	Silent	SNP	G	G	A	rs771721935	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	43	0	ENST00000215781.2:c.711C>T	p.Pro237=	p.P237=	ENST00000215781	NM_020530.4	237	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13873.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGGTCT	NONE	.	.	hmmpanther:PTHR14261	.	.	ENSP00000215781	.	3/3	.	.	.	.	.	.	.	.	rs771721935	3/3	PASS	ENST00000215781	Transcript	.	.	ENSG00000099985	8506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ONCM_HUMAN	OSM	HGNC	B5MCX1_HUMAN,B5BUQ7_HUMAN	.	UPI0000130D33	SNV	OSM,synonymous_variant,p.%3D,ENST00000403389,;OSM,synonymous_variant,p.%3D,ENST00000215781,;OSM,downstream_gene_variant,,ENST00000403463,;	752	43	39	SUCCESS
TBC1D10A	83874	.	GRCh37	22	30689705	30689705	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs770050410	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	40	81	1	ENST00000215790.7:c.985G>T	p.Glu329Ter	p.E329*	ENST00000215790	NM_031937.2	329	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS56227.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCGTACT	NONE	.	.	hmmpanther:PTHR22957:SF257,hmmpanther:PTHR22957,Superfamily_domains:SSF47923	.	.	ENSP00000384996	.	8/9	.	.	.	.	.	.	.	.	rs770050410	8/9	PASS	ENST00000403477	Transcript	.	.	ENSG00000099992	23609	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TB10A_HUMAN	TBC1D10A	HGNC	F8W9Y7_HUMAN,B5MD46_HUMAN,B3KSB3_HUMAN	.	UPI000022B7BB	SNV	TBC1D10A,stop_gained,p.Glu329Ter,ENST00000215790,;TBC1D10A,stop_gained,p.Glu241Ter,ENST00000403362,;TBC1D10A,stop_gained,p.Glu336Ter,ENST00000403477,;RP1-130H16.18,stop_gained,p.Glu203Ter,ENST00000434291,;GATSL3,upstream_gene_variant,,ENST00000404953,;GATSL3,upstream_gene_variant,,ENST00000407689,;TBC1D10A,downstream_gene_variant,,ENST00000393906,;GATSL3,upstream_gene_variant,,ENST00000498572,;RP1-130H16.18,stop_gained,p.Glu201Ter,ENST00000434987,;TBC1D10A,stop_gained,p.Glu262Ter,ENST00000433426,;RP1-130H16.18,stop_gained,p.Glu203Ter,ENST00000447976,;RP1-130H16.18,stop_gained,p.Glu190Ter,ENST00000330168,;RP1-130H16.18,stop_gained,p.Glu203Ter,ENST00000418047,;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000466666,;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000467596,;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000462073,;GATSL3,upstream_gene_variant,,ENST00000492159,;GATSL3,upstream_gene_variant,,ENST00000471480,;TBC1D10A,downstream_gene_variant,,ENST00000437122,;GATSL3,upstream_gene_variant,,ENST00000463795,;GATSL3,upstream_gene_variant,,ENST00000415484,;GATSL3,upstream_gene_variant,,ENST00000497605,;GATSL3,upstream_gene_variant,,ENST00000440704,;GATSL3,upstream_gene_variant,,ENST00000425691,;GATSL3,upstream_gene_variant,,ENST00000421236,;GATSL3,upstream_gene_variant,,ENST00000440839,;	1026	82	85	SUCCESS
PLXNB2	23654	.	GRCh37	22	50728003	50728003	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	69	0	ENST00000359337.4:c.1011C>A	p.Ala337=	p.A337=	ENST00000359337	NM_012401.3	337	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43035.1	1011	MUTECT|MUSE	.	TCACGGGCCTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000409171	.	3/37	.	.	.	.	.	.	.	.	.	3/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,synonymous_variant,p.%3D,ENST00000359337,;PLXNB2,synonymous_variant,p.%3D,ENST00000449103,;PLXNB2,synonymous_variant,p.%3D,ENST00000432455,;PLXNB2,upstream_gene_variant,,ENST00000411680,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000496720,;	1152	69	85	SUCCESS
PDCL3	79031	.	GRCh37	2	101186107	101186107	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs777545241	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	77	132	0	ENST00000264254.6:c.292T>A	p.Ser98Thr	p.S98T	ENST00000264254	NM_024065.4	98	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS33261.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTCAGGG	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF02114,TIGRFAM_domain:TIGR01552,hmmpanther:PTHR21148,hmmpanther:PTHR21148:SF16	.	.	ENSP00000264254	.	4/6	.	.	.	.	.	.	.	.	rs777545241	4/6	PASS	ENST00000264254	Transcript	.	.	ENSG00000115539	28860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	tolerated(0.08)	.	PDCL3_HUMAN	PDCL3	HGNC	C9JST4_HUMAN	.	UPI00000372D0	SNV	PDCL3,missense_variant,p.Ser46Thr,ENST00000450127,;PDCL3,missense_variant,p.Ser48Thr,ENST00000416255,;PDCL3,missense_variant,p.Ser98Thr,ENST00000264254,;	670	132	179	SUCCESS
MRPS9	64965	.	GRCh37	2	105696507	105696507	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764645292	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	37	0	ENST00000258455.3:c.476A>G	p.Tyr159Cys	p.Y159C	ENST00000258455	NM_182640.2	159	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2065.1	476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTATTCAT	NONE	.	.	hmmpanther:PTHR21569,hmmpanther:PTHR21569:SF1	.	.	ENSP00000258455	.	5/11	.	.	.	.	.	.	.	.	rs764645292	5/11	PASS	ENST00000258455	Transcript	.	.	ENSG00000135972	14501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RT09_HUMAN	MRPS9	HGNC	Q86WV4_HUMAN	.	UPI00000467F9	SNV	MRPS9,missense_variant,p.Tyr159Cys,ENST00000258455,;	586	37	50	SUCCESS
SCN7A	6332	.	GRCh37	2	167262815	167262815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	154	189	0	ENST00000409855.1:c.4324G>T	p.Ala1442Ser	p.A1442S	ENST00000409855	NM_002976.3	1442	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46442.1	4324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGCATCAA	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	deleterious(0)	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,missense_variant,p.Ala1442Ser,ENST00000409855,;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	4451	189	366	SUCCESS
TTN	7273	.	GRCh37	2	179424152	179424152	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	29	122	0	ENST00000591111.1:c.81784T>G	p.Ser27262Ala	p.S27262A	ENST00000591111		27262	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS59435.1	86707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGAGAGGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser19963Ala,ENST00000359218,;TTN,missense_variant,p.Ser27262Ala,ENST00000591111,;TTN,missense_variant,p.Ser28903Ala,ENST00000589042,;TTN,missense_variant,p.Ser20030Ala,ENST00000342175,;TTN,missense_variant,p.Ser26335Ala,ENST00000342992,;TTN,missense_variant,p.Ser19838Ala,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	86932	122	152	SUCCESS
DNAH7	56171	.	GRCh37	2	196741411	196741411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	40	0	ENST00000312428.6:c.5974A>G	p.Asn1992Asp	p.N1992D	ENST00000312428	NM_018897.2	1992	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS42794.1	5974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATTTAAAA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	37/65	.	.	.	.	.	.	.	.	.	37/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	tolerated(0.06)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Asn1992Asp,ENST00000312428,;	6075	40	71	SUCCESS
HECW2	57520	.	GRCh37	2	197185161	197185161	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	20	129	0	ENST00000260983.3:c.887A>G	p.Asp296Gly	p.D296G	ENST00000260983	NM_020760.1	296	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33354.1	887	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATCACTG	NONE	.	.	hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Gene3D:2.60.40.150,SMART_domains:SM00239	.	.	ENSP00000260983	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.06)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Asp296Gly,ENST00000260983,;HECW2,intron_variant,,ENST00000409111,;	1070	129	158	SUCCESS
ANKRD44	91526	.	GRCh37	2	197878357	197878357	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374386037	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	57	104	0	ENST00000282272.8:c.1778G>A	p.Arg593His	p.R593H	ENST00000282272	NM_001195144.1	593	cGc/cAc	0	T:0	.	.	.	.	T	.	processed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGGCCT	NONE	byCluster	1357	.	.	T:0.0001	.	.	.	.	.	.	.	.	.	.	.	rs374386037	.	PASS	ENST00000424470	Transcript	.	.	ENSG00000225636	48761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HNRNPA3P15	HGNC	.	.	.	SNV	ANKRD44,missense_variant,p.Arg576His,ENST00000337207,;ANKRD44,missense_variant,p.Arg576His,ENST00000450567,;ANKRD44,missense_variant,p.Arg416His,ENST00000424317,;ANKRD44,missense_variant,p.Arg276His,ENST00000422886,;ANKRD44,missense_variant,p.Arg576His,ENST00000328737,;ANKRD44,missense_variant,p.Arg593His,ENST00000282272,;HNRNPA3P15,upstream_gene_variant,,ENST00000424470,;	.	104	126	SUCCESS
RAPH1	65059	.	GRCh37	2	204304546	204304546	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs781101292	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	41	109	0	ENST00000319170.5:c.3367A>C	p.Thr1123Pro	p.T1123P	ENST00000319170	NM_213589.1	1123	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS2359.1	3367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGTGGGTG	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15	.	.	ENSP00000316543	.	14/14	.	.	.	.	.	.	.	.	rs781101292	14/14	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,missense_variant,p.Thr1175Pro,ENST00000374493,;RAPH1,missense_variant,p.Thr1123Pro,ENST00000319170,;ABI2,3_prime_UTR_variant,,ENST00000295851,;RAPH1,intron_variant,,ENST00000457812,;RAPH1,downstream_gene_variant,,ENST00000423104,;RAPH1,downstream_gene_variant,,ENST00000419464,;RAPH1,downstream_gene_variant,,ENST00000374488,;RAPH1,downstream_gene_variant,,ENST00000439222,;RAPH1,downstream_gene_variant,,ENST00000374489,;RAPH1,downstream_gene_variant,,ENST00000453034,;RAPH1,downstream_gene_variant,,ENST00000308091,;ABI2,downstream_gene_variant,,ENST00000464761,;	3667	109	115	SUCCESS
ZDBF2	57683	.	GRCh37	2	207171124	207171124	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	25	0	ENST00000374423.3:c.1872A>G	p.Ala624=	p.A624=	ENST00000374423	NM_020923.1	624	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS46501.1	1872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCACATCT	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,synonymous_variant,p.%3D,ENST00000374423,;	2258	25	68	SUCCESS
HADHB	3032	.	GRCh37	2	26501661	26501661	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	52	87	0	ENST00000317799.5:c.622G>T	p.Ala208Ser	p.A208S	ENST00000317799	NM_000183.2	208	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1722.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTAGCACCT	NONE	.	.	Superfamily_domains:SSF53901,Pfam_domain:PF00108,TIGRFAM_domain:TIGR01930,hmmpanther:PTHR18919:SF5,hmmpanther:PTHR18919	.	.	ENSP00000325136	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000317799	Transcript	.	.	ENSG00000138029	4803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.48)	.	ECHB_HUMAN	HADHB	HGNC	C9K0M0_HUMAN,C9JEY0_HUMAN,C9JE81_HUMAN	.	UPI0000129B6F	SNV	HADHB,missense_variant,p.Ala186Ser,ENST00000545822,;HADHB,missense_variant,p.Ala193Ser,ENST00000537713,;HADHB,missense_variant,p.Ala208Ser,ENST00000317799,;HADHB,intron_variant,,ENST00000405867,;HADHB,downstream_gene_variant,,ENST00000425035,;HADHB,downstream_gene_variant,,ENST00000448743,;HADHB,non_coding_transcript_exon_variant,,ENST00000494615,;	726	87	101	SUCCESS
SLC8A1	6546	.	GRCh37	2	40655983	40655983	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	63	0	ENST00000332839.4:c.1438A>T	p.Ile480Leu	p.I480L	ENST00000332839	NM_021097.2	480	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS1806.1	1438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTATGATAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.819)	.	tolerated(0.08)	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Ile480Leu,ENST00000408028,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000406785,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000542024,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000403092,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000405269,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000332839,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000542756,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000406391,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000405901,;SLC8A1,missense_variant,p.Ile480Leu,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,missense_variant,p.Ile477Leu,ENST00000407929,;	1472	63	80	SUCCESS
MSH6	2956	.	GRCh37	2	48018238	48018238	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	66	137	0	ENST00000234420.5:c.433A>T	p.Lys145Ter	p.K145*	ENST00000234420	NM_000179.2	145	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS1836.1	433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCAAAAGG	NONE	.	.	PROSITE_profiles:PS50812,Pfam_domain:PF00855,Gene3D:2.30.30.160,SMART_domains:SM00293,PIRSF_domain:PIRSF037677,Superfamily_domains:SSF63748	.	.	ENSP00000234420	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000234420	Transcript	.	.	ENSG00000116062	7329	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSH6_HUMAN	MSH6	HGNC	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN	.	UPI00000405F8	SNV	MSH6,stop_gained,p.Lys46Ter,ENST00000411819,;MSH6,stop_gained,p.Lys145Ter,ENST00000234420,;MSH6,stop_gained,p.Lys46Ter,ENST00000420813,;MSH6,stop_gained,p.Lys46Ter,ENST00000455383,;MSH6,stop_gained,p.Lys46Ter,ENST00000606499,;MSH6,5_prime_UTR_variant,,ENST00000538136,;FBXO11,intron_variant,,ENST00000405808,;MSH6,intron_variant,,ENST00000540021,;MSH6,stop_gained,p.Lys145Ter,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,intron_variant,,ENST00000456246,;	585	137	154	SUCCESS
TMEM108	66000	.	GRCh37	3	133098685	133098685	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	74	145	1	ENST00000321871.6:c.130G>T	p.Gly44Cys	p.G44C	ENST00000321871	NM_001136469.1	44	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS33858.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGGCACT	NONE	.	.	.	.	.	ENSP00000324651	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000321871	Transcript	.	.	ENSG00000144868	28451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0.01)	.	TM108_HUMAN	TMEM108	HGNC	D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN	.	UPI000004EE8B	SNV	TMEM108,missense_variant,p.Gly44Cys,ENST00000511555,;TMEM108,missense_variant,p.Gly44Cys,ENST00000393130,;TMEM108,missense_variant,p.Gly44Cys,ENST00000510183,;TMEM108,missense_variant,p.Gly44Cys,ENST00000515826,;TMEM108,missense_variant,p.Gly44Cys,ENST00000321871,;TMEM108,missense_variant,p.Gly44Cys,ENST00000512137,;TMEM108,5_prime_UTR_variant,,ENST00000514894,;TMEM108,5_prime_UTR_variant,,ENST00000512662,;TMEM108,intron_variant,,ENST00000508711,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,;	340	146	168	SUCCESS
KCNH8	131096	.	GRCh37	3	19389280	19389280	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	67	0	ENST00000328405.2:c.634T>C	p.Phe212Leu	p.F212L	ENST00000328405	NM_144633.2	212	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2632.1	634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAATTCATA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	.	ENSP00000328813	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.1)	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,missense_variant,p.Phe212Leu,ENST00000328405,;KCNH8,non_coding_transcript_exon_variant,,ENST00000475063,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	900	67	119	SUCCESS
RNF168	165918	.	GRCh37	3	196199175	196199175	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	70	0	ENST00000318037.3:c.1231T>C	p.Ser411Pro	p.S411P	ENST00000318037	NM_152617.3	411	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS3317.1	1231	MUTECT|MUSE|VARSCANS	.	GGGGGACACTT	NONE	.	.	hmmpanther:PTHR23328:SF1,hmmpanther:PTHR23328	.	.	ENSP00000320898	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000318037	Transcript	.	.	ENSG00000163961	26661	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.396)	.	deleterious(0.01)	.	RN168_HUMAN	RNF168	HGNC	.	.	UPI00000741D1	SNV	RNF168,missense_variant,p.Ser411Pro,ENST00000318037,;CTD-2002J20.1,upstream_gene_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,;	1826	70	88	SUCCESS
MAP4	4134	.	GRCh37	3	47910778	47910778	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	53	97	0	ENST00000360240.6:c.2899C>T	p.Arg967Ter	p.R967*	ENST00000360240	NM_002375.4	967	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS33750.1	2899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGGGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF16	.	.	ENSP00000353375	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000360240	Transcript	.	.	ENSG00000047849	6862	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP4_HUMAN	MAP4	HGNC	.	.	UPI000020A6A4	SNV	MAP4,stop_gained,p.Arg2112Ter,ENST00000426837,;MAP4,stop_gained,p.Arg967Ter,ENST00000360240,;MAP4,stop_gained,p.Arg967Ter,ENST00000395734,;MAP4,stop_gained,p.Arg687Ter,ENST00000383736,;MAP4,stop_gained,p.Arg702Ter,ENST00000264724,;MAP4,intron_variant,,ENST00000429422,;MAP4,intron_variant,,ENST00000441748,;MAP4,intron_variant,,ENST00000383737,;MAP4,intron_variant,,ENST00000420772,;MAP4,intron_variant,,ENST00000335271,;MAP4,downstream_gene_variant,,ENST00000462206,;	3418	97	119	SUCCESS
MST1R	4486	.	GRCh37	3	49933256	49933256	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754281140	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	32	0	ENST00000296474.3:c.2854G>A	p.Gly952Arg	p.G952R	ENST00000296474	NM_002447.2	952	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2807.1	2854	RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCATCTG	NONE	byFrequency	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,PIRSF_domain:PIRSF000617	.	.	ENSP00000296474	.	12/20	.	.	.	.	.	.	.	.	rs754281140	12/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.33)	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,missense_variant,p.Gly903Arg,ENST00000344206,;MST1R,missense_variant,p.Gly952Arg,ENST00000296474,;MST1R,intron_variant,,ENST00000440292,;MST1R,upstream_gene_variant,,ENST00000434765,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;MST1R,missense_variant,p.Gly952Arg,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,downstream_gene_variant,,ENST00000493535,;MST1R,upstream_gene_variant,,ENST00000490053,;MST1R,downstream_gene_variant,,ENST00000485044,;	2882	32	39	SUCCESS
INPP4B	8821	.	GRCh37	4	143226623	143226623	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753433691	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	137	265	0	ENST00000262992.4:c.491T>C	p.Val164Ala	p.V164A	ENST00000262992	NM_001101669.1	164	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3757.1	491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGACCAGC	NONE	.	.	Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	10/27	.	.	.	.	.	.	.	.	rs753433691	10/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.91)	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,missense_variant,p.Val164Ala,ENST00000508116,;INPP4B,missense_variant,p.Val164Ala,ENST00000509777,;INPP4B,missense_variant,p.Val35Ala,ENST00000514525,;INPP4B,missense_variant,p.Val164Ala,ENST00000262992,;INPP4B,missense_variant,p.Val164Ala,ENST00000513000,;INPP4B,missense_variant,p.Val164Ala,ENST00000308502,;INPP4B,missense_variant,p.Val164Ala,ENST00000510812,;INPP4B,5_prime_UTR_variant,,ENST00000511838,;INPP4B,missense_variant,p.Val164Ala,ENST00000512630,;INPP4B,3_prime_UTR_variant,,ENST00000506297,;INPP4B,3_prime_UTR_variant,,ENST00000507462,;	925	265	316	SUCCESS
DCHS2	54798	.	GRCh37	4	155412105	155412105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	232	246	0	ENST00000339452.1:c.403C>T	p.Arg135Trp	p.R135W	ENST00000339452	NM_001142552.1	135	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	.	CCDS47151.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGCTCGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF262,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000395539	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000443500	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	deleterious(0)	.	.	DCHS2	HGNC	Q6V1P8_HUMAN,E9PG03_HUMAN	.	UPI0001881B4E	SNV	DCHS2,missense_variant,p.Arg135Trp,ENST00000443500,;DCHS2,missense_variant,p.Arg135Trp,ENST00000339452,;DCHS2,missense_variant,p.Arg128Trp,ENST00000456341,;	826	246	399	SUCCESS
SEL1L3	23231	.	GRCh37	4	25767058	25767058	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	76	0	ENST00000399878.3:c.2846-1G>A		p.X949_splice	ENST00000399878	NM_015187.3	949		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47037.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGCTGCAG	NONE	.	.	.	.	.	ENSP00000382767	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399878	Transcript	.	.	ENSG00000091490	29108	.	.	HIGH	19/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SE1L3_HUMAN	SEL1L3	HGNC	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN	.	UPI00001D7736	SNV	SEL1L3,splice_acceptor_variant,,ENST00000399878,;SEL1L3,splice_acceptor_variant,,ENST00000502949,;SEL1L3,splice_acceptor_variant,,ENST00000507618,;SEL1L3,splice_acceptor_variant,,ENST00000264868,;SEL1L3,upstream_gene_variant,,ENST00000510448,;RP11-302F12.10,upstream_gene_variant,,ENST00000510905,;SEL1L3,downstream_gene_variant,,ENST00000509290,;	.	76	68	SUCCESS
ZNF732	654254	.	GRCh37	4	266039	266039	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781876637	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	78	0	ENST00000419098.1:c.607G>T	p.Asp203Tyr	p.D203Y	ENST00000419098	NM_001137608.1	203	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS46990.1	607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCTTTGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF81,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000415774	.	4/4	.	.	.	.	.	.	.	.	rs781876637,COSM1054749,COSM1054748	4/4	PASS	ENST00000419098	Transcript	.	.	ENSG00000186777	37138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.825)	.	deleterious(0)	0,1,1	ZN732_HUMAN	ZNF732	HGNC	.	.	UPI00017A8291	SNV	ZNF732,missense_variant,p.Asp203Tyr,ENST00000419098,;RP11-478C6.5,upstream_gene_variant,,ENST00000507882,;RP11-478C6.6,upstream_gene_variant,,ENST00000511111,;	618	78	114	SUCCESS
NSG1	27065	.	GRCh37	4	4411339	4411339	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	81	0	ENST00000433139.2:c.286T>A	p.Cys96Ser	p.C96S	ENST00000433139		96	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS3376.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTGCGTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF06387,PIRSF_domain:PIRSF002383	.	.	ENSP00000388823	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000421177	Transcript	.	.	ENSG00000168824	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	NSG1_HUMAN	NSG1	Uniprot_gn	D3DVS7_HUMAN,B2R5R8_HUMAN	.	UPI0000130549	SNV	NSG1,missense_variant,p.Cys57Ser,ENST00000504171,;NSG1,missense_variant,p.Cys96Ser,ENST00000421177,;NSG1,missense_variant,p.Cys96Ser,ENST00000505246,;NSG1,missense_variant,p.Cys96Ser,ENST00000506380,;NSG1,missense_variant,p.Cys96Ser,ENST00000513555,;NSG1,missense_variant,p.Cys96Ser,ENST00000397958,;NSG1,missense_variant,p.Cys96Ser,ENST00000433139,;NSG1,missense_variant,p.Cys96Ser,ENST00000513829,;	2277	81	75	SUCCESS
CLOCK	9575	.	GRCh37	4	56308736	56308736	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	51	104	0	ENST00000309964.4:c.1968T>G	p.Thr656=	p.T656=	ENST00000309964	NM_004898.3	656	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3500.1	1968	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGAGTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23042:SF2,hmmpanther:PTHR23042	.	.	ENSP00000308741	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000309964	Transcript	.	.	ENSG00000134852	2082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLOCK_HUMAN	CLOCK	HGNC	C9JK03_HUMAN	.	UPI0000031303	SNV	CLOCK,synonymous_variant,p.%3D,ENST00000513440,;CLOCK,synonymous_variant,p.%3D,ENST00000381322,;CLOCK,synonymous_variant,p.%3D,ENST00000309964,;TMEM165,intron_variant,,ENST00000608091,;CLOCK,non_coding_transcript_exon_variant,,ENST00000511124,;CLOCK,non_coding_transcript_exon_variant,,ENST00000479384,;TMEM165,intron_variant,,ENST00000506103,;	2219	104	120	SUCCESS
YTHDC1	91746	.	GRCh37	4	69188594	69188594	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	106	165	0	ENST00000344157.4:c.1474T>C	p.Phe492Leu	p.F492L	ENST00000344157	NM_001031732.2	492	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS33992.1	1474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAACAGAA	NONE	.	.	Pfam_domain:PF04146,hmmpanther:PTHR12357,PROSITE_profiles:PS50882	.	.	ENSP00000339245	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000344157	Transcript	.	.	ENSG00000083896	30626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	YTDC1_HUMAN	YTHDC1	HGNC	J3KS01_HUMAN	.	UPI000020B86D	SNV	YTHDC1,missense_variant,p.Phe474Leu,ENST00000355665,;YTHDC1,missense_variant,p.Phe492Leu,ENST00000579690,;YTHDC1,missense_variant,p.Phe492Leu,ENST00000344157,;YTHDC1,upstream_gene_variant,,ENST00000507529,;YTHDC1,non_coding_transcript_exon_variant,,ENST00000506175,;	1810	165	233	SUCCESS
SLCO4C1	353189	.	GRCh37	5	101627074	101627074	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs773202248	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	13	182	0	ENST00000310954.6:c.592G>T	p.Glu198Ter	p.E198*	ENST00000310954	NM_180991.4	198	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34205.1	592	MUTECT|MUSE	.	ATATTCTCCAC	NONE	byFrequency	.	Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,hmmpanther:PTHR11388:SF81,hmmpanther:PTHR11388,PROSITE_profiles:PS50850	.	.	ENSP00000309741	.	2/13	.	.	.	.	.	.	.	.	rs773202248,COSM1059226	2/13	PASS	ENST00000310954	Transcript	.	.	ENSG00000173930	23612	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	SO4C1_HUMAN	SLCO4C1	HGNC	Q63HP3_HUMAN	.	UPI00001C10B6	SNV	SLCO4C1,stop_gained,p.Glu198Ter,ENST00000310954,;	879	182	227	SUCCESS
GIN1	54826	.	GRCh37	5	102442596	102442596	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	70	104	1	ENST00000399004.2:c.157G>T	p.Val53Phe	p.V53F	ENST00000399004	NM_017676.2	53	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS43349.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACATAAA	NONE	.	.	hmmpanther:PTHR24559:SF168,hmmpanther:PTHR24559	.	.	ENSP00000381970	.	3/8	.	.	.	.	.	.	.	.	COSM3715069	3/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.284)	.	deleterious(0)	1	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,missense_variant,p.Val53Phe,ENST00000508629,;GIN1,missense_variant,p.Val53Phe,ENST00000399004,;GIN1,upstream_gene_variant,,ENST00000511400,;GIN1,non_coding_transcript_exon_variant,,ENST00000513603,;GIN1,intron_variant,,ENST00000513747,;GIN1,intron_variant,,ENST00000512248,;	252	105	169	SUCCESS
PKD2L2	27039	.	GRCh37	5	137241951	137241951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	72	122	0	ENST00000508883.1:c.803C>A	p.Ser268Tyr	p.S268Y	ENST00000508883		268	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS43367.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCTGTGA	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47,Pfam_domain:PF08016	.	.	ENSP00000290431	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000290431	Transcript	.	.	ENSG00000078795	9012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PK2L2_HUMAN	PKD2L2	HGNC	D6RF71_HUMAN,D6RBX8_HUMAN	.	UPI000049E016	SNV	PKD2L2,missense_variant,p.Ser268Tyr,ENST00000508883,;PKD2L2,missense_variant,p.Ser234Tyr,ENST00000350250,;PKD2L2,missense_variant,p.Ser268Tyr,ENST00000290431,;PKD2L2,missense_variant,p.Ser268Tyr,ENST00000502810,;PKD2L2,missense_variant,p.Ser268Tyr,ENST00000508638,;PKD2L2,missense_variant,p.Ser178Tyr,ENST00000503015,;PKD2L2,3_prime_UTR_variant,,ENST00000414094,;	826	122	159	SUCCESS
PCDHA7	56141	.	GRCh37	5	140214261	140214261	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782226762	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	370	32	269	0	ENST00000525929.1:c.293G>A	p.Arg98Gln	p.R98Q	ENST00000525929	NM_018910.2	98	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54918.1	293	MUTECT|MUSE	.	CGGGCGGAGCG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF08266,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	rs782226762	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.103)	.	tolerated_low_confidence(0.18)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Arg98Gln,ENST00000378125,;PCDHA7,missense_variant,p.Arg98Gln,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	293	269	402	SUCCESS
PCDHA9	9752	.	GRCh37	5	140228373	140228373	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782528860	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	28	174	0	ENST00000532602.1:c.293G>A	p.Arg98Gln	p.R98Q	ENST00000532602	NM_031857.1	98	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54920.1	293	RADIA|MUTECT|MUSE	.	CGGGCGGAGCG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000436042	.	1/4	.	.	.	.	.	.	.	.	rs782528860	1/4	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.076)	.	tolerated_low_confidence(0.13)	.	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,missense_variant,p.Arg98Gln,ENST00000378122,;PCDHA9,missense_variant,p.Arg98Gln,ENST00000532602,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1326	174	216	SUCCESS
PCDH12	51294	.	GRCh37	5	141335204	141335204	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	82	0	ENST00000231484.3:c.2213C>A	p.Ser738Tyr	p.S738Y	ENST00000231484	NM_016580.3	738	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS4269.1	2213	RADIA|MUTECT|MUSE	.	AGATGGACATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24028:SF42,hmmpanther:PTHR24028	.	.	ENSP00000231484	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000231484	Transcript	.	.	ENSG00000113555	8657	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.747)	.	deleterious(0)	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,missense_variant,p.Ser738Tyr,ENST00000231484,;RNF14,upstream_gene_variant,,ENST00000506822,;RNF14,upstream_gene_variant,,ENST00000511961,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	3424	82	87	SUCCESS
FAT2	2196	.	GRCh37	5	150945848	150945848	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	90	140	0	ENST00000261800.5:c.2645A>G	p.Asp882Gly	p.D882G	ENST00000261800	NM_001447.2	882	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4317.1	2645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGTCCAGG	BUFFER|p.R883H|c.2648G>A|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Asp882Gly,ENST00000261800,;	2658	140	186	SUCCESS
HCN1	348980	.	GRCh37	5	45695977	45695977	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	20	0	ENST00000303230.4:c.219C>T	p.Gly73=	p.G73=	ENST00000303230	NM_021072.3	73	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3952.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217	.	.	ENSP00000307342	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,synonymous_variant,p.%3D,ENST00000303230,;	277	20	48	SUCCESS
ITGA1	3672	.	GRCh37	5	52229759	52229759	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs539547486	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	299	179	350	0	ENST00000282588.6:c.2897A>G	p.Asn966Ser	p.N966S	ENST00000282588	NM_181501.1	966	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3955.1	2897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAATGAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000282588	.	23/29	.	.	.	.	.	.	.	.	rs539547486	23/29	PASS	ENST00000282588	Transcript	.	.	ENSG00000213949	6134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.07)	.	ITA1_HUMAN	ITGA1	HGNC	.	.	UPI00001A95E8	SNV	ITGA1,missense_variant,p.Asn966Ser,ENST00000282588,;CTD-2175A23.1,intron_variant,,ENST00000505701,;CTD-2175A23.1,intron_variant,,ENST00000503559,;ITGA1,non_coding_transcript_exon_variant,,ENST00000506275,;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	3355	350	479	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60817126	60817126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	77	130	0	ENST00000252744.5:c.1370G>A	p.Cys457Tyr	p.C457Y	ENST00000252744	NM_020928.1	457	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS47215.1	1370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGCAAGT	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	tolerated(0.05)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Cys457Tyr,ENST00000252744,;	1370	130	173	SUCCESS
GPRC6A	222545	.	GRCh37	6	117116996	117116996	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	64	0	ENST00000310357.3:c.1551A>G		p.X517_splice	ENST00000310357	NM_148963.2	517	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS5112.1	1551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATTTGCTA	NONE	.	.	hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061	.	.	ENSP00000309493	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,synonymous_variant,p.%3D,ENST00000310357,;GPRC6A,synonymous_variant,p.%3D,ENST00000368549,;GPRC6A,synonymous_variant,p.%3D,ENST00000530250,;	1573	64	58	SUCCESS
NCOA7	135112	.	GRCh37	6	126210902	126210902	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	31	96	0	ENST00000368357.3:c.1702G>T	p.Gly568Cys	p.G568C	ENST00000368357	NM_001199619.1	568	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS5132.1	1702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGGTGAT	NONE	.	.	hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354	.	.	ENSP00000357341	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000368357	Transcript	.	.	ENSG00000111912	21081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.03)	.	NCOA7_HUMAN	NCOA7	HGNC	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN	.	UPI00001AE66D	SNV	NCOA7,missense_variant,p.Gly568Cys,ENST00000392477,;NCOA7,missense_variant,p.Gly453Cys,ENST00000229634,;NCOA7,missense_variant,p.Gly568Cys,ENST00000368357,;NCOA7,missense_variant,p.Gly366Cys,ENST00000413085,;	2054	96	119	SUCCESS
FUCA2	2519	.	GRCh37	6	143818489	143818489	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	53	0	ENST00000002165.6:c.1263+37G>T		p.*421*	ENST00000002165	NM_032020.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5200.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTAATCAGCAA	NONE	.	.	.	.	.	ENSP00000002165	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000002165	Transcript	.	.	ENSG00000001036	4008	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUCO2_HUMAN	FUCA2	HGNC	.	.	UPI0000073C10	SNV	FUCA2,3_prime_UTR_variant,,ENST00000451668,;FUCA2,3_prime_UTR_variant,,ENST00000438118,;FUCA2,intron_variant,,ENST00000002165,;RP1-20N2.6,intron_variant,,ENST00000610068,;RP1-20N2.6,intron_variant,,ENST00000591892,;RP1-20N2.6,intron_variant,,ENST00000589563,;FUCA2,downstream_gene_variant,,ENST00000367585,;	.	53	83	SUCCESS
ARID1B	57492	.	GRCh37	6	157100005	157100005	+	synonymous_variant	Silent	SNP	C	C	A	rs184815562	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	61	0	ENST00000346085.5:c.942C>A	p.Gly314=	p.G314=	ENST00000346085	NM_020732.3	314	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55072.1	942	MUTECT|MUSE|VARSCANS	likely_benign	GGCGGCGGAGG	SITE|p.G314G|c.942C>A|3,SITE|p.G256G|c.768C>A|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	.	.	ENSP00000344546	.	1/20	.	.	.	.	.	.	.	.	rs184815562,COSM3781610,COSM3781609	1/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	0,1,1	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,upstream_gene_variant,,ENST00000414678,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;RP11-230C9.2,upstream_gene_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;	943	61	61	SUCCESS
PDE10A	10846	.	GRCh37	6	165829741	165829741	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	66	1	ENST00000366882.1:c.997C>A	p.Gln333Lys	p.Q333K	ENST00000366882		333	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS47513.1	1027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTGGCCAG	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000438284	.	12/22	.	.	.	.	.	.	.	.	COSM3948762,COSM3948761	12/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.122)	.	tolerated(0.11)	1,1	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,missense_variant,p.Gln333Lys,ENST00000354448,;PDE10A,missense_variant,p.Gln343Lys,ENST00000539869,;PDE10A,missense_variant,p.Gln333Lys,ENST00000366882,;	1083	67	65	SUCCESS
DACT2	168002	.	GRCh37	6	168708969	168708969	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756920751	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	62	0	ENST00000366795.3:c.1468G>T	p.Gly490Cys	p.G490C	ENST00000366795	NM_214462.3	490	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS47519.1	1468	MUTECT|MUSE|VARSCANS	.	GGGACCCATTT	NONE	byFrequency	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF13,Pfam_domain:PF15268	.	.	ENSP00000355760	.	4/4	.	.	.	.	.	.	.	.	rs756920751	4/4	PASS	ENST00000366795	Transcript	.	.	ENSG00000164488	21231	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DACT2_HUMAN	DACT2	HGNC	.	.	UPI00001D8145	SNV	DACT2,missense_variant,p.Gly490Cys,ENST00000366795,;DACT2,missense_variant,p.Gly320Cys,ENST00000610183,;DACT2,missense_variant,p.Gly82Cys,ENST00000607983,;DACT2,intron_variant,,ENST00000366796,;	1557	62	78	SUCCESS
MRS2	57380	.	GRCh37	6	24403393	24403393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	36	0	ENST00000378386.3:c.119G>T	p.Gly40Val	p.G40V	ENST00000378386	NM_020662.2	40	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4552.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGCCGCC	NONE	.	.	hmmpanther:PTHR13890,hmmpanther:PTHR13890:SF0	.	.	ENSP00000367637	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000378386	Transcript	.	.	ENSG00000124532	13785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0.02)	.	MRS2_HUMAN	MRS2	HGNC	B4DMD9_HUMAN	.	UPI00000343FA	SNV	MRS2,missense_variant,p.Gly40Val,ENST00000378386,;MRS2,missense_variant,p.Gly40Val,ENST00000274747,;MRS2,missense_variant,p.Gly40Val,ENST00000378353,;MRS2,missense_variant,p.Gly40Val,ENST00000535061,;MRS2,missense_variant,p.Gly40Val,ENST00000443868,;MRS2,5_prime_UTR_variant,,ENST00000543597,;MRS2,upstream_gene_variant,,ENST00000446191,;MRS2,non_coding_transcript_exon_variant,,ENST00000483634,;	212	36	37	SUCCESS
TDP2	51567	.	GRCh37	6	24651152	24651152	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	136	122	0	ENST00000378198.4:c.953T>A	p.Ile318Lys	p.I318K	ENST00000378198		318	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS4557.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATATTCGA	NONE	.	.	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR15822,hmmpanther:PTHR15822:SF4	.	.	ENSP00000367440	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000378198	Transcript	.	.	ENSG00000111802	17768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0)	.	TYDP2_HUMAN	TDP2	HGNC	.	.	UPI0000032018	SNV	TDP2,missense_variant,p.Ile260Lys,ENST00000341060,;TDP2,missense_variant,p.Ile348Lys,ENST00000545995,;TDP2,missense_variant,p.Ile318Lys,ENST00000378198,;KIAA0319,upstream_gene_variant,,ENST00000430948,;KIAA0319,upstream_gene_variant,,ENST00000378214,;KIAA0319,upstream_gene_variant,,ENST00000535378,;KIAA0319,upstream_gene_variant,,ENST00000537886,;TDP2,downstream_gene_variant,,ENST00000478507,;TDP2,downstream_gene_variant,,ENST00000478285,;	1124	122	211	SUCCESS
SLC17A2	10246	.	GRCh37	6	25917052	25917052	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	51	88	0	ENST00000265425.3:c.791T>A	p.Val264Asp	p.V264D	ENST00000265425		264	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS4567.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGACAGCT	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF07690,hmmpanther:PTHR11662:SF193,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	.	.	ENSP00000353677	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000360488	Transcript	.	.	ENSG00000112337	10930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0)	.	NPT3_HUMAN	SLC17A2	HGNC	.	.	UPI0000000DB7	SNV	SLC17A2,missense_variant,p.Val264Asp,ENST00000377850,;SLC17A2,missense_variant,p.Val264Asp,ENST00000265425,;SLC17A2,missense_variant,p.Val264Asp,ENST00000360488,;	1209	88	114	SUCCESS
HIST1H4G	0	.	GRCh37	6	26247145	26247145	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	54	0	ENST00000244537.4:c.61A>G	p.Lys21Glu	p.K21E	ENST00000244537	NM_003547.2	21	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4599.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTGCGAT	NONE	.	.	hmmpanther:PTHR10484:SF20,hmmpanther:PTHR10484,Gene3D:1.10.20.10,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000244537	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244537	Transcript	.	.	ENSG00000124578	4792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	H4G_HUMAN	HIST1H4G	HGNC	.	.	UPI000006D7D1	SNV	HIST1H4G,missense_variant,p.Lys21Glu,ENST00000244537,;HIST1H3F,downstream_gene_variant,,ENST00000446824,;HIST1H2BH,upstream_gene_variant,,ENST00000356350,;	115	54	71	SUCCESS
MRPS18B	28973	.	GRCh37	6	30587275	30587275	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	61	0	ENST00000259873.4:c.84C>T	p.Pro28=	p.P28=	ENST00000259873	NM_014046.3	28	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4682.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCCTCCA	NONE	.	.	hmmpanther:PTHR13329:SF1,hmmpanther:PTHR13329	.	.	ENSP00000259873	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000259873	Transcript	.	.	ENSG00000204568	14516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT18B_HUMAN	MRPS18B	HGNC	B0S7P4_HUMAN	.	UPI0000132F37	SNV	MRPS18B,synonymous_variant,p.%3D,ENST00000259873,;MRPS18B,synonymous_variant,p.%3D,ENST00000506373,;PPP1R10,upstream_gene_variant,,ENST00000376511,;AL662800.1,upstream_gene_variant,,ENST00000410962,;MRPS18B,non_coding_transcript_exon_variant,,ENST00000472229,;PPP1R10,upstream_gene_variant,,ENST00000484449,;PPP1R10,upstream_gene_variant,,ENST00000473954,;MRPS18B,non_coding_transcript_exon_variant,,ENST00000492316,;MRPS18B,non_coding_transcript_exon_variant,,ENST00000472267,;	241	61	74	SUCCESS
ZBTB9	221504	.	GRCh37	6	33424037	33424038	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	94	0	ENST00000395064.2:c.1164_1165del	p.Cys388TrpfsTer11	p.C388Wfs*11	ENST00000395064	NM_152735.3	387	cTG/c	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS4780.1	1160-1161	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGCCTGTGTGG	NONE	.	.	hmmpanther:PTHR24414:SF24,hmmpanther:PTHR24414	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	deletion	ZBTB9,frameshift_variant,p.Cys388TrpfsTer11,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000428982,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	1428-1429	94	129	SUCCESS
SRPK1	6732	.	GRCh37	6	35888863	35888863	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	15	79	0	ENST00000373825.2:c.-30C>T		p.*10*	ENST00000373825				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47415.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGCACTC	NONE	.	.	.	.	.	ENSP00000362931	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000373825	Transcript	.	.	ENSG00000096063	11305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRPK1_HUMAN	SRPK1	HGNC	D6RBF8_HUMAN	.	UPI000020DBDD	SNV	SRPK1,5_prime_UTR_variant,,ENST00000507909,;SRPK1,5_prime_UTR_variant,,ENST00000423325,;SRPK1,5_prime_UTR_variant,,ENST00000510290,;SRPK1,5_prime_UTR_variant,,ENST00000373822,;SRPK1,5_prime_UTR_variant,,ENST00000373825,;SRPK1,upstream_gene_variant,,ENST00000512445,;SRPK1,upstream_gene_variant,,ENST00000361690,;SRPK1,5_prime_UTR_variant,,ENST00000508473,;SRPK1,non_coding_transcript_exon_variant,,ENST00000513367,;SRPK1,upstream_gene_variant,,ENST00000346162,;	257	79	106	SUCCESS
KIAA1586	57691	.	GRCh37	6	56918738	56918738	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	88	142	1	ENST00000370733.4:c.1441G>C	p.Gly481Arg	p.G481R	ENST00000370733	NM_020931.2	481	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS34480.1	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGGGACCA	NONE	.	.	hmmpanther:PTHR11389:SF461,hmmpanther:PTHR11389,Superfamily_domains:SSF53098	.	.	ENSP00000359768	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370733	Transcript	.	.	ENSG00000168116	21360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	K1586_HUMAN	KIAA1586	HGNC	.	.	UPI0000074573	SNV	KIAA1586,missense_variant,p.Gly481Arg,ENST00000370733,;KIAA1586,missense_variant,p.Gly454Arg,ENST00000545356,;KIAA1586,downstream_gene_variant,,ENST00000488682,;	1648	143	210	SUCCESS
CAGE1	285782	.	GRCh37	6	7378874	7378874	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	90	178	0	ENST00000512086.1:c.663C>T	p.Ser221=	p.S221=	ENST00000512086		221	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54965.1	663	RADIA|MUTECT|MUSE	.	GGTTGGCTAGG	NONE	.	.	Pfam_domain:PF15066	.	.	ENSP00000425493	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000502583	Transcript	.	.	ENSG00000164304	21622	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAGE1_HUMAN	CAGE1	HGNC	.	.	UPI0001C0B380	SNV	CAGE1,synonymous_variant,p.%3D,ENST00000512086,;CAGE1,synonymous_variant,p.%3D,ENST00000502583,;CAGE1,synonymous_variant,p.%3D,ENST00000379918,;CAGE1,synonymous_variant,p.%3D,ENST00000338150,;CAGE1,synonymous_variant,p.%3D,ENST00000512691,;CAGE1,synonymous_variant,p.%3D,ENST00000296742,;CAGE1,intron_variant,,ENST00000509324,;CAGE1,synonymous_variant,p.%3D,ENST00000442019,;CAGE1,synonymous_variant,p.%3D,ENST00000458291,;	1228	178	198	SUCCESS
MDN1	23195	.	GRCh37	6	90410473	90410473	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	62	117	0	ENST00000369393.3:c.8530G>C	p.Asp2844His	p.D2844H	ENST00000369393		2844	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS5024.1	8530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCTTCCT	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	56/102	.	.	.	.	.	.	.	.	.	56/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Asp2844His,ENST00000369393,;MDN1,missense_variant,p.Asp2844His,ENST00000428876,;	8646	117	160	SUCCESS
PLOD3	8985	.	GRCh37	7	100854943	100854943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	126	126	1	ENST00000223127.3:c.1287G>T	p.Trp429Cys	p.W429C	ENST00000223127	NM_001084.4	429	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS5715.1	1287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCCCAGAA	NONE	.	.	Superfamily_domains:SSF53448,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF7	.	.	ENSP00000223127	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000223127	Transcript	.	.	ENSG00000106397	9083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PLOD3_HUMAN	PLOD3	HGNC	C9JIX5_HUMAN	.	UPI0000046664	SNV	PLOD3,missense_variant,p.Trp429Cys,ENST00000223127,;PLOD3,missense_variant,p.Trp4Cys,ENST00000454310,;PLOD3,missense_variant,p.Trp220Cys,ENST00000421736,;PLOD3,downstream_gene_variant,,ENST00000414785,;PLOD3,downstream_gene_variant,,ENST00000456079,;PLOD3,missense_variant,p.Trp42Cys,ENST00000440925,;PLOD3,non_coding_transcript_exon_variant,,ENST00000463479,;PLOD3,non_coding_transcript_exon_variant,,ENST00000460475,;PLOD3,non_coding_transcript_exon_variant,,ENST00000478082,;PLOD3,downstream_gene_variant,,ENST00000478264,;PLOD3,upstream_gene_variant,,ENST00000466881,;PLOD3,upstream_gene_variant,,ENST00000460132,;PLOD3,upstream_gene_variant,,ENST00000487563,;PLOD3,downstream_gene_variant,,ENST00000424135,;PLOD3,downstream_gene_variant,,ENST00000489927,;	1686	127	211	SUCCESS
CBLL1	79872	.	GRCh37	7	107384608	107384608	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	92	109	0	ENST00000440859.3:c.-1C>G		p.*1*	ENST00000440859	NM_024814.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAATCATGGA	NONE	.	.	.	.	.	ENSP00000401277	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000440859	Transcript	.	.	ENSG00000105879	21225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAKAI_HUMAN	CBLL1	HGNC	C9J2P9_HUMAN,B4DDV7_HUMAN	.	UPI000006E5AC	SNV	CBLL1,5_prime_UTR_variant,,ENST00000415884,;CBLL1,5_prime_UTR_variant,,ENST00000222597,;CBLL1,5_prime_UTR_variant,,ENST00000440859,;CBLL1,upstream_gene_variant,,ENST00000420796,;AC002467.7,intron_variant,,ENST00000440971,;AC002467.7,upstream_gene_variant,,ENST00000609979,;AC002467.7,upstream_gene_variant,,ENST00000457510,;CBLL1,5_prime_UTR_variant,,ENST00000432748,;CBLL1,non_coding_transcript_exon_variant,,ENST00000487517,;CBLL1,non_coding_transcript_exon_variant,,ENST00000479443,;CBLL1,non_coding_transcript_exon_variant,,ENST00000493361,;	467	109	225	SUCCESS
RNF148	378925	.	GRCh37	7	122342140	122342140	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	24	32	0	ENST00000434824.1:c.665C>A	p.Thr222Asn	p.T222N	ENST00000434824	NM_198085.1	222	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS47692.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTGAAA	NONE	.	.	hmmpanther:PTHR22765:SF31,hmmpanther:PTHR22765	.	.	ENSP00000388207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434824	Transcript	.	.	ENSG00000235631	22411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.56)	.	RN148_HUMAN	RNF148	HGNC	A4D0X4_HUMAN	.	UPI000006FF1E	SNV	RNF148,missense_variant,p.Thr222Asn,ENST00000434824,;RNF148,splice_region_variant,,ENST00000447240,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000412584,;CADPS2,intron_variant,,ENST00000313070,;RNF133,upstream_gene_variant,,ENST00000340112,;	882	32	103	SUCCESS
ZNF467	168544	.	GRCh37	7	149463194	149463194	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1341285559	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	79	0	ENST00000302017.3:c.397G>A	p.Ala133Thr	p.A133T	ENST00000302017	NM_207336.1	133	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5899.1	397	MUSE|VARSCANS	.	GTACGCGGCAG	NONE	.	.	hmmpanther:PTHR24402:SF14,hmmpanther:PTHR24402	.	.	ENSP00000304769	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000302017	Transcript	.	.	ENSG00000181444	23154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.52)	.	ZN467_HUMAN	ZNF467	HGNC	.	.	UPI0000160B41	SNV	ZNF467,missense_variant,p.Ala133Thr,ENST00000302017,;ZNF467,intron_variant,,ENST00000484747,;	811	79	94	SUCCESS
C7orf25	79020	.	GRCh37	7	42949271	42949271	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765807725	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	67	131	0	ENST00000350427.4:c.1229C>G	p.Pro410Arg	p.P410R	ENST00000350427		410	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS47576.1	1403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGGGGGTG	NONE	.	.	hmmpanther:PTHR13379	.	.	ENSP00000416290	.	2/2	.	.	.	.	.	.	.	.	rs765807725	2/2	PASS	ENST00000431882	Transcript	.	.	ENSG00000136197	21703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	tolerated(0.13)	.	CG025_HUMAN	C7orf25	HGNC	C9K0L6_HUMAN,C9JF90_HUMAN	.	UPI000159689A	SNV	C7orf25,missense_variant,p.Pro468Arg,ENST00000431882,;C7orf25,missense_variant,p.Pro410Arg,ENST00000438029,;C7orf25,missense_variant,p.Pro410Arg,ENST00000350427,;C7orf25,missense_variant,p.Pro410Arg,ENST00000447342,;C7orf25,downstream_gene_variant,,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;PSMA2,3_prime_UTR_variant,,ENST00000442788,;PSMA2,downstream_gene_variant,,ENST00000433579,;	1426	131	185	SUCCESS
SEMA3C	10512	.	GRCh37	7	80378240	80378240	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs557931063	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	35	34	0	ENST00000265361.3:c.1816C>T	p.Gln606Ter	p.Q606*	ENST00000265361	NM_006379.3	606	Cag/Tag	0	.	A:0.0008	.	A:0	.	A	Q/*	protein_coding	YES	CCDS5596.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGTAACA	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	.	ENSP00000265361	A:0	17/18	.	.	.	.	.	.	.	.	rs557931063	17/18	PASS	ENST00000265361	Transcript	.	A:0.0002	ENSG00000075223	10725	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,stop_gained,p.Gln606Ter,ENST00000265361,;SEMA3C,stop_gained,p.Gln624Ter,ENST00000544525,;SEMA3C,stop_gained,p.Gln606Ter,ENST00000419255,;	2378	34	70	SUCCESS
CSMD3	114788	.	GRCh37	8	113301671	113301671	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	54	0	ENST00000297405.5:c.9071A>G	p.Lys3024Arg	p.K3024R	ENST00000297405	NM_198123.1	3024	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6315.1	9071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCTTTCCT	BUFFER|p.R2985C|c.8953C>T|4,BUFFER|p.R3025C|c.9073C>T|4	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	57/71	.	.	.	.	.	.	.	.	.	57/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.41)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Lys2954Arg,ENST00000352409,;CSMD3,missense_variant,p.Lys2855Arg,ENST00000455883,;CSMD3,missense_variant,p.Lys3024Arg,ENST00000297405,;CSMD3,missense_variant,p.Lys2294Arg,ENST00000339701,;CSMD3,missense_variant,p.Lys2984Arg,ENST00000343508,;	9316	54	93	SUCCESS
BAI1	0	.	GRCh37	8	143546087	143546087	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	47	0	ENST00000323289.5:c.531del	p.Asn178ThrfsTer59	p.N178Tfs*59	ENST00000323289	NM_001702.2	176	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS64985.1	528	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGTGGGGAA	NONE	.	.	.	.	.	ENSP00000430945	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	deletion	BAI1,frameshift_variant,p.Asn178ThrfsTer59,ENST00000323289,;BAI1,frameshift_variant,p.Asn178ThrfsTer59,ENST00000517894,;BAI1,frameshift_variant,p.Asn178ThrfsTer59,ENST00000521208,;	1422	47	79	SUCCESS
FAM83H	286077	.	GRCh37	8	144809419	144809419	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1160	24	1062	0	ENST00000388913.3:c.2212C>A	p.Leu738Met	p.L738M	ENST00000388913	NM_198488.3	738	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6410.2	2212	MUTECT|MUSE	.	CTCCAGCAGCT	NONE	.	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	.	.	ENSP00000373565	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,missense_variant,p.Leu738Met,ENST00000388913,;MAPK15,downstream_gene_variant,,ENST00000338033,;FAM83H,missense_variant,p.Leu465Met,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000484654,;	2338	1063	1184	SUCCESS
ADAM28	10863	.	GRCh37	8	24201031	24201031	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	37	55	0	ENST00000265769.4:c.1924G>T	p.Glu642Ter	p.E642*	ENST00000265769	NM_014265.4	642	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34865.1	1924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATGAGCTC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22	.	.	ENSP00000265769	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,stop_gained,p.Glu275Ter,ENST00000521629,;ADAM28,stop_gained,p.Glu389Ter,ENST00000397649,;ADAM28,stop_gained,p.Glu642Ter,ENST00000265769,;ADAM28,stop_gained,p.Glu68Ter,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,upstream_gene_variant,,ENST00000518737,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523236,;ADAM28,non_coding_transcript_exon_variant,,ENST00000520665,;	2034	55	50	SUCCESS
NRG1	3084	.	GRCh37	8	32616839	32616839	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	70	0	ENST00000405005.3:c.946A>C	p.Asn316His	p.N316H	ENST00000405005		316	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS6083.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAAACGTC	NONE	.	.	Prints_domain:PR01089,Pfam_domain:PF02158,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7	.	.	ENSP00000349275	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000356819	Transcript	.	.	ENSG00000157168	7997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	NRG1_HUMAN	NRG1	HGNC	Q7RTW5_HUMAN,B7Z168_HUMAN	.	UPI000013DED7	SNV	NRG1,missense_variant,p.Asn324His,ENST00000338921,;NRG1,missense_variant,p.Asn313His,ENST00000287842,;NRG1,missense_variant,p.Asn313His,ENST00000523079,;NRG1,missense_variant,p.Asn389His,ENST00000523534,;NRG1,missense_variant,p.Asn316His,ENST00000405005,;NRG1,missense_variant,p.Asn287His,ENST00000287845,;NRG1,missense_variant,p.Asn266His,ENST00000519301,;NRG1,missense_variant,p.Asn316His,ENST00000521670,;NRG1,missense_variant,p.Asn159His,ENST00000539990,;NRG1,missense_variant,p.Asn321His,ENST00000356819,;NRG1,missense_variant,p.Asn283His,ENST00000518104,;NRG1,3_prime_UTR_variant,,ENST00000341377,;NRG1,downstream_gene_variant,,ENST00000519240,;NRG1,downstream_gene_variant,,ENST00000522402,;NRG1,downstream_gene_variant,,ENST00000518084,;NRG1,downstream_gene_variant,,ENST00000522569,;	1478	70	55	SUCCESS
MOS	4342	.	GRCh37	8	57025864	57025864	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	91	0	ENST00000311923.1:c.678G>T	p.Leu226Phe	p.L226F	ENST00000311923	NM_005372.1	226	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6164.1	678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCAACTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000310722	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311923	Transcript	.	.	ENSG00000172680	7199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MOS_HUMAN	MOS	HGNC	.	.	UPI000012DF0C	SNV	MOS,missense_variant,p.Leu226Phe,ENST00000311923,;	678	91	90	SUCCESS
YTHDF3	253943	.	GRCh37	8	64100105	64100105	+	synonymous_variant	Silent	SNP	C	C	T	rs1485600004	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	102	200	0	ENST00000539294.1:c.1533C>T	p.Pro511=	p.P511=	ENST00000539294	NM_001277817.1	511	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	.	1533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCAATAA	NONE	.	.	PROSITE_profiles:PS50882,hmmpanther:PTHR12357:SF9,hmmpanther:PTHR12357,Pfam_domain:PF04146	.	.	ENSP00000473496	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000539294	Transcript	.	.	ENSG00000185728	26465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	YTHDF3	HGNC	R4GN55_HUMAN,R4GMX0_HUMAN	.	UPI0002C8850B	SNV	YTHDF3,synonymous_variant,p.%3D,ENST00000542911,;YTHDF3,synonymous_variant,p.%3D,ENST00000539294,;YTHDF3,synonymous_variant,p.%3D,ENST00000518373,;YTHDF3,intron_variant,,ENST00000517371,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000520640,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000521674,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000517303,;YTHDF3,downstream_gene_variant,,ENST00000523056,;YTHDF3,downstream_gene_variant,,ENST00000523455,;YTHDF3,downstream_gene_variant,,ENST00000518438,;YTHDF3,downstream_gene_variant,,ENST00000518763,;YTHDF3,downstream_gene_variant,,ENST00000517375,;YTHDF3,downstream_gene_variant,,ENST00000521547,;YTHDF3,3_prime_UTR_variant,,ENST00000524135,;	1849	200	222	SUCCESS
NCOA2	10499	.	GRCh37	8	71037078	71037078	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	81	49	0	ENST00000452400.2:c.3939A>G	p.Pro1313=	p.P1313=	ENST00000452400	NM_006540.2	1313	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47872.1	3939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTGGATC	NONE	.	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,Pfam_domain:PF07469,PIRSF_domain:PIRSF038181	.	.	ENSP00000399968	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,synonymous_variant,p.%3D,ENST00000267974,;NCOA2,synonymous_variant,p.%3D,ENST00000452400,;NCOA2,synonymous_variant,p.%3D,ENST00000518363,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,downstream_gene_variant,,ENST00000521239,;	4121	49	125	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88885352	88885352	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	37	92	0	ENST00000319675.3:c.848A>T	p.Gln283Leu	p.Q283L	ENST00000319675	NM_152418.3	283	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6245.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATTGGCCA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious(0.01)	.	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	SNV	DCAF4L2,missense_variant,p.Gln283Leu,ENST00000319675,;	945	92	108	SUCCESS
CYLC2	1539	.	GRCh37	9	105767525	105767525	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	132	286	0	ENST00000374798.3:c.612A>T	p.Thr204=	p.T204=	ENST00000374798	NM_001340.3	204	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS35085.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAGAATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742	.	.	ENSP00000420256	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000374798	Transcript	.	.	ENSG00000155833	2583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,synonymous_variant,p.%3D,ENST00000374798,;CYLC2,synonymous_variant,p.%3D,ENST00000487798,;	682	286	180	SUCCESS
RBM18	92400	.	GRCh37	9	125007619	125007619	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs149650476	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	29	0	ENST00000417201.3:c.329G>T	p.Arg110Ile	p.R110I	ENST00000417201	NM_033117.3	110	aGa/aTa	0	T:0	.	.	.	.	A	R/I	protein_coding	YES	CCDS6839.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCTCTGA	NONE	byCluster	.	hmmpanther:PTHR21245,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	T:0.0001	ENSP00000409315	.	5/6	.	.	.	.	.	.	.	.	rs149650476	5/6	PASS	ENST00000417201	Transcript	.	.	ENSG00000119446	28413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	deleterious(0.04)	.	RBM18_HUMAN	RBM18	HGNC	.	.	UPI0000046802	SNV	RBM18,missense_variant,p.Arg110Ile,ENST00000417201,;RBM18,splice_region_variant,,ENST00000483428,;RBM18,splice_region_variant,,ENST00000491850,;	470	29	20	SUCCESS
NEK6	10783	.	GRCh37	9	127089633	127089633	+	synonymous_variant	Silent	SNP	C	C	T	rs553709380	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	21	54	0	ENST00000320246.5:c.531C>T	p.Asn177=	p.N177=	ENST00000320246	NM_014397.5	177	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS48015.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAACGTGTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF212,hmmpanther:PTHR24362,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000362702	.	8/11	.	.	.	.	.	.	.	.	rs553709380	8/11	PASS	ENST00000373600	Transcript	.	.	ENSG00000119408	7749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK6_HUMAN	NEK6	HGNC	Q5TBH2_HUMAN,Q5TBH1_HUMAN,Q5TBG7_HUMAN,Q5TBG4_HUMAN,Q5TBG2_HUMAN,Q5TBG1_HUMAN	.	UPI000013ED34	SNV	NEK6,synonymous_variant,p.%3D,ENST00000546191,;NEK6,synonymous_variant,p.%3D,ENST00000373603,;NEK6,synonymous_variant,p.%3D,ENST00000540326,;NEK6,synonymous_variant,p.%3D,ENST00000394199,;NEK6,synonymous_variant,p.%3D,ENST00000425237,;NEK6,synonymous_variant,p.%3D,ENST00000373596,;NEK6,synonymous_variant,p.%3D,ENST00000320246,;NEK6,synonymous_variant,p.%3D,ENST00000422297,;NEK6,synonymous_variant,p.%3D,ENST00000539416,;NEK6,synonymous_variant,p.%3D,ENST00000545174,;NEK6,synonymous_variant,p.%3D,ENST00000373600,;NEK6,synonymous_variant,p.%3D,ENST00000444973,;NEK6,synonymous_variant,p.%3D,ENST00000454453,;NEK6,downstream_gene_variant,,ENST00000447379,;NEK6,downstream_gene_variant,,ENST00000423785,;	848	54	25	SUCCESS
CNTLN	54875	.	GRCh37	9	17394651	17394651	+	synonymous_variant	Silent	SNP	A	A	G	rs1341551114	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	150	227	0	ENST00000380647.3:c.2199A>G	p.Gln733=	p.Q733=	ENST00000380647		733	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS43789.1	2199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAAGAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,synonymous_variant,p.%3D,ENST00000425824,;CNTLN,synonymous_variant,p.%3D,ENST00000262360,;CNTLN,synonymous_variant,p.%3D,ENST00000380647,;	2283	227	368	SUCCESS
RFX3	5991	.	GRCh37	9	3247720	3247720	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	63	0	ENST00000382004.3:c.1968+312A>T		p.*656*	ENST00000382004	NM_134428.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6449.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTTTTTC	NONE	.	.	.	.	.	ENSP00000371434	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382004	Transcript	.	.	ENSG00000080298	9984	.	.	MODIFIER	16/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFX3_HUMAN	RFX3	HGNC	F6XM74_HUMAN,F6USP3_HUMAN	.	UPI0000070BFB	SNV	RFX3,3_prime_UTR_variant,,ENST00000302303,;RFX3,3_prime_UTR_variant,,ENST00000358730,;RFX3,3_prime_UTR_variant,,ENST00000449234,;RFX3,intron_variant,,ENST00000382004,;	.	63	66	SUCCESS
SPAG8	26206	.	GRCh37	9	35811469	35811469	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs571991371	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	28	0	ENST00000475644.1:c.574C>T	p.His192Tyr	p.H192Y	ENST00000475644		192	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS6592.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGAGAGC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15510	.	.	ENSP00000340982	.	2/8	.	.	.	.	.	.	.	.	rs571991371	2/8	PASS	ENST00000340291	Transcript	.	.	ENSG00000137098	14105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	SPAG8_HUMAN	SPAG8	HGNC	F8WBP3_HUMAN	.	UPI000013E78B	SNV	SPAG8,missense_variant,p.His190Tyr,ENST00000497810,;SPAG8,missense_variant,p.His192Tyr,ENST00000340291,;SPAG8,missense_variant,p.His190Tyr,ENST00000484764,;SPAG8,missense_variant,p.His192Tyr,ENST00000396638,;HINT2,downstream_gene_variant,,ENST00000259667,;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000447210,;NPR2,downstream_gene_variant,,ENST00000421267,;NPR2,downstream_gene_variant,,ENST00000342694,;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,upstream_gene_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000461169,;SPAG8,missense_variant,p.His192Tyr,ENST00000475644,;SPAG8,intron_variant,,ENST00000471631,;SPAG8,intron_variant,,ENST00000495667,;SPAG8,intron_variant,,ENST00000472605,;SPAG8,upstream_gene_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000448821,;FAM221B,downstream_gene_variant,,ENST00000388950,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000469249,;	699	28	42	SUCCESS
ZNF658	26149	.	GRCh37	9	40774395	40774395	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767254486	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	64	124	0	ENST00000602553.1:c.880A>G	p.Met294Val	p.M294V	ENST00000602553		294	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS35023.1	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCATAGCCA	NONE	byFrequency	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256	.	.	ENSP00000473484	.	5/5	.	.	.	.	.	.	.	.	rs767254486	5/5	PASS	ENST00000602553	Transcript	.	.	ENSG00000196409	25226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.51)	.	ZN658_HUMAN	ZNF658	HGNC	B3KNB1_HUMAN	.	UPI000046D388	SNV	ZNF658,missense_variant,p.Met292Val,ENST00000441795,;ZNF658,missense_variant,p.Met294Val,ENST00000377626,;ZNF658,missense_variant,p.Met294Val,ENST00000602553,;ZNF658,missense_variant,p.Met294Val,ENST00000479710,;	1175	124	85	SUCCESS
PRUNE2	158471	.	GRCh37	9	79324435	79324435	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	109	0	ENST00000376718.3:c.2755T>C	p.Trp919Arg	p.W919R	ENST00000376718	NM_015225.2	919	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS47982.1	2755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCAGGAAT	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Trp241Arg,ENST00000426088,;PRUNE2,missense_variant,p.Trp919Arg,ENST00000376718,;PRUNE2,missense_variant,p.Trp560Arg,ENST00000428286,;	2879	109	74	SUCCESS
COL4A5	1287	.	GRCh37	X	107869539	107869539	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs281874712	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	39	0	ENST00000361603.2:c.3206G>T	p.Gly1069Val	p.G1069V	ENST00000361603	NM_000495.4	1069	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS35366.1	3206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TCCTGGTATTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	36/53	.	.	.	.	.	.	.	.	rs281874712,CM107309	36/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	20378821	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Gly147Val,ENST00000505728,;COL4A5,missense_variant,p.Gly1069Val,ENST00000328300,;COL4A5,missense_variant,p.Gly1069Val,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	3450	39	65	SUCCESS
UPF3B	65109	.	GRCh37	X	118975169	118975172	+	frameshift_variant	Frame_Shift_Del	DEL	TTTC	TTTC	-	rs794727881	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	TTTC	TTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	13	56	37	0	ENST00000276201.2:c.674_677del	p.Arg225LysfsTer22	p.R225Kfs*22	ENST00000276201	NM_080632.2	225	aGAAAa/aa	0	.	.	.	.	.	-	RK/X	protein_coding	YES	CCDS14588.1	674-677	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCTTTTTCTTTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF1	.	.	ENSP00000276201	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000276201	Transcript	.	.	ENSG00000125351	20439	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REN3B_HUMAN	UPF3B	HGNC	I3XIE4_HUMAN	.	UPI000006D21C	deletion	UPF3B,frameshift_variant,p.Arg225LysfsTer22,ENST00000345865,;UPF3B,frameshift_variant,p.Arg225LysfsTer22,ENST00000276201,;UPF3B,non_coding_transcript_exon_variant,,ENST00000478840,;	744-747	37	69	SUCCESS
CT47B1	643311	.	GRCh37	X	120009029	120009029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	106	91	0	ENST00000371311.3:c.496C>A	p.Pro166Thr	p.P166T	ENST00000371311	NM_001145718.1	166	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS48161.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGGTTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32157:SF3,hmmpanther:PTHR32157,Pfam_domain:PF15623	.	.	ENSP00000360360	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000371311	Transcript	.	.	ENSG00000236446	33293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	tolerated(0.08)	.	CT47B_HUMAN	CT47B1	HGNC	.	.	UPI000036776D	SNV	CT47B1,missense_variant,p.Pro166Thr,ENST00000371311,;CT47A12,downstream_gene_variant,,ENST00000419982,;CT47A12,downstream_gene_variant,,ENST00000416816,;RP1-321E8.4,upstream_gene_variant,,ENST00000604718,;	751	91	129	SUCCESS
DCAF12L2	340578	.	GRCh37	X	125299403	125299403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767452980	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	76	93	0	ENST00000360028.2:c.505G>A	p.Glu169Lys	p.E169K	ENST00000360028		169	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43991.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCGCCGC	NONE	byFrequency	.	hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000441489	.	2/2	.	.	.	.	.	.	.	.	rs767452980,COSM2725009,COSM1556083,COSM1556082,COSM2725008	2/2	PASS	ENST00000538699	Transcript	.	.	ENSG00000198354	32950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	benign(0.093)	.	tolerated(0.14)	0,1,1,1,1	DC122_HUMAN	DCAF12L2	HGNC	.	.	UPI0000197594	SNV	DCAF12L2,missense_variant,p.Glu169Lys,ENST00000538699,;DCAF12L2,missense_variant,p.Glu169Lys,ENST00000360028,;	586	93	95	SUCCESS
VGLL1	51442	.	GRCh37	X	135631014	135631014	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs767068356	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	56	0	ENST00000370634.3:c.481C>G	p.Pro161Ala	p.P161A	ENST00000370634	NM_016267.3	161	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS14658.1	481	MUTECT|MUSE	.	CCCAGCCTGAT	NONE	byFrequency	.	hmmpanther:PTHR15950:SF19,hmmpanther:PTHR15950	.	.	ENSP00000359668	.	3/5	.	.	.	.	.	.	.	.	rs767068356	3/5	PASS	ENST00000370634	Transcript	.	.	ENSG00000102243	20985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.577)	.	deleterious(0.02)	.	VGLL1_HUMAN	VGLL1	HGNC	.	.	UPI0000071D9A	SNV	VGLL1,missense_variant,p.Pro126Ala,ENST00000440515,;VGLL1,missense_variant,p.Pro161Ala,ENST00000370634,;VGLL1,intron_variant,,ENST00000456412,;MIR934,upstream_gene_variant,,ENST00000401241,;VGLL1,upstream_gene_variant,,ENST00000470358,;	651	56	77	SUCCESS
MAGEC2	51438	.	GRCh37	X	141290940	141290940	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	44	0	ENST00000247452.3:c.834G>T	p.Trp278Cys	p.W278C	ENST00000247452	NM_016249.3	278	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS14678.1	834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACCCAAAC	BUFFER|p.K276N|c.828A>C|4	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,Pfam_domain:PF01454	.	.	ENSP00000354660	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000247452	Transcript	.	.	ENSG00000046774	13574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	MAGC2_HUMAN	MAGEC2	HGNC	.	.	UPI000012F059	SNV	MAGEC2,missense_variant,p.Trp278Cys,ENST00000247452,;	1182	44	47	SUCCESS
F8	2157	.	GRCh37	X	154194337	154194337	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	62	47	0	ENST00000360256.4:c.1351A>G	p.Thr451Ala	p.T451A	ENST00000360256	NM_000132.3	451	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS35457.1	1351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGTGTATG	NONE	.	.	hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	.	.	ENSP00000353393	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0.04)	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,missense_variant,p.Thr451Ala,ENST00000360256,;F8,non_coding_transcript_exon_variant,,ENST00000483822,;	1552	47	71	SUCCESS
FAM47A	158724	.	GRCh37	X	34148402	34148402	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	64	67	0	ENST00000346193.3:c.1994A>T	p.Glu665Val	p.E665V	ENST00000346193	NM_203408.3	665	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43926.1	1994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTCATCC	NONE	.	.	.	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Glu665Val,ENST00000346193,;	2046	67	75	SUCCESS
FAM204A	63877	.	GRCh37	10	120070724	120070724	+	synonymous_variant	Silent	SNP	T	T	C	rs781361703	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	66	86	0	ENST00000369172.4:c.645A>G	p.Ala215=	p.A215=	ENST00000369172	NM_001134672.1	215	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS7605.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATGCAAG	NONE	.	.	hmmpanther:PTHR14386:SF1,hmmpanther:PTHR14386	.	.	ENSP00000358183	.	8/9	.	.	.	.	.	.	.	.	rs781361703	8/9	PASS	ENST00000369183	Transcript	.	.	ENSG00000165669	25794	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F204A_HUMAN	FAM204A	HGNC	Q5T374_HUMAN	.	UPI0000073C7E	SNV	FAM204A,synonymous_variant,p.%3D,ENST00000369183,;FAM204A,synonymous_variant,p.%3D,ENST00000369172,;FAM204A,non_coding_transcript_exon_variant,,ENST00000491416,;FAM204A,non_coding_transcript_exon_variant,,ENST00000469758,;FAM204A,upstream_gene_variant,,ENST00000452252,;FAM204A,3_prime_UTR_variant,,ENST00000470476,;FAM204A,non_coding_transcript_exon_variant,,ENST00000467890,;	905	86	143	SUCCESS
ADAM12	8038	.	GRCh37	10	127824210	127824210	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751757189	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	67	95	0	ENST00000368679.4:c.368G>A	p.Gly123Glu	p.G123E	ENST00000368679	NM_003474.4	123	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS7653.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCCATGG	NONE	.	.	hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF01562	.	.	ENSP00000357668	.	5/23	.	.	.	.	.	.	.	.	rs751757189	5/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Gly123Glu,ENST00000368679,;ADAM12,missense_variant,p.Gly123Glu,ENST00000368676,;ADAM12,missense_variant,p.Gly120Glu,ENST00000448723,;ADAM12,non_coding_transcript_exon_variant,,ENST00000494661,;	678	95	111	SUCCESS
MLLT10	8028	.	GRCh37	10	21962452	21962452	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs747811015	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	293	108	192	0	ENST00000307729.7:c.1231del	p.Val411Ter	p.V411*	ENST00000307729		409	Ggg/gg	0	-:0	C:0	.	C:0	.	-	G/X	protein_coding	YES	CCDS55708.1	1225	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGAAGGGGGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF86	C:0	-:0.0011	ENSP00000307411	C:0	11/23	.	.	.	.	.	.	.	.	rs573639267,rs774092366,COSM1347229,COSM1347230	11/23	PASS	ENST00000307729	Transcript	1	C:0.0006	ENSG00000078403	16063	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1,1	.	.	.	C:0.0031	.	0,0,1,1	AF10_HUMAN	MLLT10	HGNC	Q71UR7_HUMAN,B4DVS6_HUMAN	.	UPI00001F8FF7	deletion	MLLT10,frameshift_variant,p.Val411Ter,ENST00000446906,;MLLT10,frameshift_variant,p.Val411Ter,ENST00000377059,;MLLT10,frameshift_variant,p.Val411Ter,ENST00000307729,;MLLT10,frameshift_variant,p.Val411Ter,ENST00000377072,;MLLT10,intron_variant,,ENST00000438473,;MLLT10,upstream_gene_variant,,ENST00000420525,;MLLT10,downstream_gene_variant,,ENST00000468309,;	1403	192	401	SUCCESS
ENKUR	219670	.	GRCh37	10	25284594	25284594	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	40	65	0	ENST00000331161.4:c.428del	p.Pro143GlnfsTer23	p.P143Qfs*23	ENST00000331161	NM_145010.3	143	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7146.1	428	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTTTGGAACT	NONE	.	.	hmmpanther:PTHR21490:SF0,hmmpanther:PTHR21490	.	.	ENSP00000331044	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000331161	Transcript	.	.	ENSG00000151023	28388	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENKUR_HUMAN	ENKUR	HGNC	L7N489_HUMAN	.	UPI00000728D2	deletion	ENKUR,frameshift_variant,p.Pro47GlnfsTer23,ENST00000483339,;ENKUR,frameshift_variant,p.Pro143GlnfsTer23,ENST00000376363,;ENKUR,frameshift_variant,p.Pro143GlnfsTer23,ENST00000331161,;ENKUR,frameshift_variant,p.Pro143GlnfsTer23,ENST00000496261,;	648	65	145	SUCCESS
DIP2C	22982	.	GRCh37	10	445075	445075	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1457743486	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	43	0	ENST00000280886.6:c.1234C>T	p.Pro412Ser	p.P412S	ENST00000280886	NM_014974.2	412	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7054.1	1234	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGCACGG	NONE	.	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000280886	.	10/37	.	.	.	.	.	.	.	.	.	10/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	tolerated(0.08)	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,missense_variant,p.Pro305Ser,ENST00000381496,;DIP2C,missense_variant,p.Pro412Ser,ENST00000280886,;	1322	44	42	SUCCESS
MARCH8	0	.	GRCh37	10	45954609	45954609	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	63	0	ENST00000395771.3:c.530T>C	p.Ile177Thr	p.I177T	ENST00000395771	NM_001002265.1	177	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS7213.1	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAATGAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23012:SF60,hmmpanther:PTHR23012	.	.	ENSP00000379118	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000395771	Transcript	.	.	ENSG00000165406	23356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	MARH8_HUMAN	MARCH8	HGNC	.	.	UPI000013E4A0	SNV	MARCH8,missense_variant,p.Ile177Thr,ENST00000319836,;MARCH8,missense_variant,p.Ile177Thr,ENST00000395771,;MARCH8,missense_variant,p.Ile459Thr,ENST00000453424,;MARCH8,missense_variant,p.Ile177Thr,ENST00000395769,;MARCH8,downstream_gene_variant,,ENST00000453980,;MARCH8,non_coding_transcript_exon_variant,,ENST00000476962,;MARCH8,downstream_gene_variant,,ENST00000602712,;	1373	63	95	SUCCESS
FBXO18	0	.	GRCh37	10	5948067	5948067	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	99	163	0	ENST00000379999.5:c.378G>T	p.Met126Ile	p.M126I	ENST00000379999	NM_032807.4	126	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7073.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGGCCAA	NONE	.	.	.	.	.	ENSP00000369335	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	tolerated(0.46)	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,missense_variant,p.Met75Ile,ENST00000362091,;FBXO18,missense_variant,p.Met126Ile,ENST00000379999,;FBXO18,5_prime_UTR_variant,,ENST00000397269,;FBXO18,non_coding_transcript_exon_variant,,ENST00000470089,;FBXO18,non_coding_transcript_exon_variant,,ENST00000469009,;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,upstream_gene_variant,,ENST00000494526,;	482	163	193	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75552318	75552318	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	99	0	ENST00000605216.1:c.2021A>G	p.Tyr674Cys	p.Y674C	ENST00000605216	NM_001242487.1	674	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS44440.1	2021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTACTTCT	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.17)	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,missense_variant,p.Tyr14Cys,ENST00000603187,;ZSWIM8,missense_variant,p.Tyr674Cys,ENST00000604729,;ZSWIM8,missense_variant,p.Tyr674Cys,ENST00000604524,;ZSWIM8,missense_variant,p.Tyr674Cys,ENST00000605216,;ZSWIM8,missense_variant,p.Tyr674Cys,ENST00000398706,;ZSWIM8,intron_variant,,ENST00000603114,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8-AS1,downstream_gene_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000431225,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,missense_variant,p.Tyr293Cys,ENST00000492395,;ZSWIM8,missense_variant,p.Tyr674Cys,ENST00000433366,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;RP11-574K11.31,downstream_gene_variant,,ENST00000603706,;	2238	99	103	SUCCESS
CYP2C18	1562	.	GRCh37	10	96480254	96480254	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	41	44	0	ENST00000285979.6:c.921A>G	p.Arg307=	p.R307=	ENST00000285979	NM_000772.2	307	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS7435.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGATATGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385	.	.	ENSP00000285979	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000285979	Transcript	.	.	ENSG00000108242	2620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2CI_HUMAN	CYP2C18	HGNC	Q16750_HUMAN	.	UPI000013DE1D	SNV	CYP2C18,synonymous_variant,p.%3D,ENST00000339022,;CYP2C18,synonymous_variant,p.%3D,ENST00000285979,;CYP2C19,non_coding_transcript_exon_variant,,ENST00000464755,;	1120	44	74	SUCCESS
MMS19	64210	.	GRCh37	10	99219913	99219913	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	4	91	0	ENST00000370782.2:c.2546C>A	p.Thr849Asn	p.T849N	ENST00000370782		849	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS7464.1	2546	MUTECT|MUSE	.	CATCAGTGCAG	NONE	.	.	hmmpanther:PTHR12891,Gene3D:1.25.10.10,Pfam_domain:PF12460,Superfamily_domains:SSF48371	.	.	ENSP00000412698	.	26/31	.	.	.	.	.	.	.	.	.	26/31	PASS	ENST00000438925	Transcript	.	.	ENSG00000155229	13824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.08)	.	MMS19_HUMAN	MMS19	HGNC	.	.	UPI000013DDF7	SNV	MMS19,missense_variant,p.Thr849Asn,ENST00000370782,;MMS19,missense_variant,p.Thr751Asn,ENST00000327238,;MMS19,missense_variant,p.Thr849Asn,ENST00000438925,;MMS19,missense_variant,p.Thr806Asn,ENST00000355839,;MMS19,missense_variant,p.Thr424Asn,ENST00000434538,;MMS19,3_prime_UTR_variant,,ENST00000327277,;ZDHHC16,downstream_gene_variant,,ENST00000345745,;ZDHHC16,downstream_gene_variant,,ENST00000417044,;ZDHHC16,downstream_gene_variant,,ENST00000352634,;ZDHHC16,downstream_gene_variant,,ENST00000433086,;ZDHHC16,downstream_gene_variant,,ENST00000370842,;ZDHHC16,downstream_gene_variant,,ENST00000370854,;ZDHHC16,downstream_gene_variant,,ENST00000370846,;ZDHHC16,downstream_gene_variant,,ENST00000393760,;MMS19,upstream_gene_variant,,ENST00000444411,;ZDHHC16,downstream_gene_variant,,ENST00000353979,;ZDHHC16,downstream_gene_variant,,ENST00000420089,;ZDHHC16,downstream_gene_variant,,ENST00000492733,;ZDHHC16,downstream_gene_variant,,ENST00000462924,;ZDHHC16,downstream_gene_variant,,ENST00000487315,;ZDHHC16,downstream_gene_variant,,ENST00000459777,;ZDHHC16,downstream_gene_variant,,ENST00000495735,;ZDHHC16,downstream_gene_variant,,ENST00000466895,;MMS19,3_prime_UTR_variant,,ENST00000415383,;MMS19,non_coding_transcript_exon_variant,,ENST00000480108,;MMS19,non_coding_transcript_exon_variant,,ENST00000485400,;MMS19,non_coding_transcript_exon_variant,,ENST00000495415,;MMS19,downstream_gene_variant,,ENST00000478452,;	2882	91	103	SUCCESS
PGR	5241	.	GRCh37	11	100998846	100998846	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs867516411	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	43	0	ENST00000325455.5:c.956G>A	p.Arg319His	p.R319H	ENST00000325455	NM_001202474.3	319	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8310.1	956	MUTECT|MUSE	.	GAGTGCGGGCT	NONE	.	.	hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161,Prints_domain:PR00544	.	.	ENSP00000325120	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,missense_variant,p.Arg319His,ENST00000263463,;PGR,missense_variant,p.Arg319His,ENST00000325455,;PGR,intron_variant,,ENST00000534013,;PGR,missense_variant,p.Arg319His,ENST00000534780,;PGR,missense_variant,p.Arg319His,ENST00000528960,;PGR,missense_variant,p.Arg319His,ENST00000526300,;	2410	43	30	SUCCESS
PHLDB1	23187	.	GRCh37	11	118498741	118498741	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782543582	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	64	0	ENST00000361417.2:c.1202G>A	p.Arg401His	p.R401H	ENST00000361417	NM_015157.3	401	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8401.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGCCCTC	NONE	.	.	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16	.	.	ENSP00000354498	.	7/24	.	.	.	.	.	.	.	.	rs782543582	7/24	PASS	ENST00000361417	Transcript	.	.	ENSG00000019144	23697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	PHLB1_HUMAN	PHLDB1	HGNC	.	.	UPI0000192101	SNV	PHLDB1,missense_variant,p.Arg401His,ENST00000361417,;PHLDB1,missense_variant,p.Arg401His,ENST00000356063,;PHLDB1,intron_variant,,ENST00000530708,;PHLDB1,upstream_gene_variant,,ENST00000534140,;PHLDB1,downstream_gene_variant,,ENST00000526670,;PHLDB1,downstream_gene_variant,,ENST00000526374,;PHLDB1,downstream_gene_variant,,ENST00000532639,;PHLDB1,upstream_gene_variant,,ENST00000534672,;PHLDB1,downstream_gene_variant,,ENST00000527259,;PHLDB1,missense_variant,p.Arg401His,ENST00000530994,;PHLDB1,missense_variant,p.Arg401His,ENST00000528594,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,upstream_gene_variant,,ENST00000525698,;PHLDB1,upstream_gene_variant,,ENST00000531862,;	1613	64	71	SUCCESS
MICALCL	84953	.	GRCh37	11	12316272	12316272	+	synonymous_variant	Silent	SNP	C	C	T	rs778255579	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	70	0	ENST00000256186.2:c.1294C>T	p.Leu432=	p.L432=	ENST00000256186	NM_032867.2	432	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41620.1	1294	MUTECT|MUSE	.	AGGTGCTGCCT	NONE	.	.	SMART_domains:SM00945,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF12	.	.	ENSP00000256186	.	3/9	.	.	.	.	.	.	.	.	rs778255579	3/9	PASS	ENST00000256186	Transcript	.	.	ENSG00000133808	25933	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MICLK_HUMAN	MICALCL	HGNC	E9PRG5_HUMAN	.	UPI0000228C2E	SNV	MICALCL,synonymous_variant,p.%3D,ENST00000256186,;MICALCL,downstream_gene_variant,,ENST00000533534,;	1585	70	56	SUCCESS
OR8D2	283160	.	GRCh37	11	124189242	124189242	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201080079	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	102	0	ENST00000357438.2:c.852G>A	p.Met284Ile	p.M284I	ENST00000357438	NM_001002918.1	284	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31707.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCATGGG	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF278,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000350022	.	1/1	.	.	.	.	.	.	.	.	rs201080079	1/1	PASS	ENST00000357438	Transcript	.	.	ENSG00000197263	8482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.01)	.	OR8D2_HUMAN	OR8D2	HGNC	.	.	UPI0000041D8E	SNV	OR8D2,missense_variant,p.Met284Ile,ENST00000357438,;	943	103	105	SUCCESS
ROBO4	54538	.	GRCh37	11	124767648	124767660	+	protein_altering_variant	In_Frame_Del	DEL	AGGGAACCCCTGC	AGGGAACCCCTGC	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	AGGGAACCCCTGC	AGGGAACCCCTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	173	62	271	0	ENST00000306534.3:c.32_44delinsA	p.Gly11_Leu15delinsGlu	p.G11_L15delinsE	ENST00000306534	NM_019055.5	11	gGCAGGGGTTCCCTg/gAg	0	.	.	.	.	.	T	GRGSL/E	protein_coding	YES	CCDS8455.1	32-44	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGGCAGGGAACCCCTGCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489	.	.	ENSP00000304945	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	substitution	ROBO4,protein_altering_variant,p.Gly11_Leu15delinsGlu,ENST00000306534,;ROBO4,5_prime_UTR_variant,,ENST00000533054,;ROBO4,non_coding_transcript_exon_variant,,ENST00000529941,;ROBO4,intron_variant,,ENST00000527279,;ROBO4,intron_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000533337,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000532216,;	518-530	271	235	SUCCESS
ROBO4	54538	.	GRCh37	11	124767659	124767660	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	161	42	247	0	ENST00000306534.3:c.32_33del	p.Gly11GlufsTer74	p.G11Efs*74	ENST00000306534	NM_019055.5	11	gGC/g	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS8455.1	32-33	INDELOCATOR|VARSCANI	.	ACCCCTGCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489	.	.	ENSP00000304945	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	deletion	ROBO4,frameshift_variant,p.Gly11GlufsTer74,ENST00000306534,;ROBO4,5_prime_UTR_variant,,ENST00000533054,;ROBO4,non_coding_transcript_exon_variant,,ENST00000529941,;ROBO4,intron_variant,,ENST00000527279,;ROBO4,intron_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000533337,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000532216,;	518-519	247	203	SUCCESS
NTM	50863	.	GRCh37	11	131781288	131781288	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	55	0	ENST00000374786.1:c.-88C>A		p.*30*	ENST00000374786	NM_001144058.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44777.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTCGCTCC	NONE	.	68	.	.	.	ENSP00000396722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425719	Transcript	.	.	ENSG00000182667	17941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRI_HUMAN	NTM	HGNC	.	.	UPI00001A58B9	SNV	NTM,5_prime_UTR_variant,,ENST00000374786,;NTM,intron_variant,,ENST00000436745,;NTM,intron_variant,,ENST00000374791,;NTM,intron_variant,,ENST00000539799,;NTM,intron_variant,,ENST00000550167,;NTM,intron_variant,,ENST00000427481,;NTM,upstream_gene_variant,,ENST00000374784,;NTM,upstream_gene_variant,,ENST00000425719,;NTM,intron_variant,,ENST00000498764,;NTM,intron_variant,,ENST00000463395,;NTM,intron_variant,,ENST00000470371,;NTM,upstream_gene_variant,,ENST00000479431,;	.	55	61	SUCCESS
INSC	387755	.	GRCh37	11	15134030	15134030	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	6	81	0	ENST00000379554.3:c.15T>C	p.Pro5=	p.P5=	ENST00000379554	NM_001031853.4	5	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS41621.1	15	MUTECT|MUSE	.	CCCCCTGGCAA	NONE	.	.	hmmpanther:PTHR21386,hmmpanther:PTHR21386:SF0	.	.	ENSP00000368872	.	1/13	.	.	.	.	.	.	.	.	COSM1352850	1/13	PASS	ENST00000379554	Transcript	.	.	ENSG00000188487	33116	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	INSC_HUMAN	INSC	HGNC	.	.	UPI0000D63F1D	SNV	INSC,synonymous_variant,p.%3D,ENST00000379554,;INSC,upstream_gene_variant,,ENST00000379556,;INSC,upstream_gene_variant,,ENST00000424273,;	61	81	85	SUCCESS
SPTY2D1	144108	.	GRCh37	11	18636742	18636742	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	31	115	0	ENST00000336349.5:c.1079A>G	p.His360Arg	p.H360R	ENST00000336349	NM_194285.2	360	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS31441.1	1079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGTGTGGG	NONE	.	.	hmmpanther:PTHR22691:SF8,hmmpanther:PTHR22691	.	.	ENSP00000337991	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000336349	Transcript	.	.	ENSG00000179119	26818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	tolerated(0.19)	.	SPT2_HUMAN	SPTY2D1	HGNC	B4E223_HUMAN	.	UPI00001607F0	SNV	SPTY2D1,missense_variant,p.His360Arg,ENST00000336349,;SPTY2D1-AS1,downstream_gene_variant,,ENST00000501599,;SPTY2D1,downstream_gene_variant,,ENST00000543776,;SPTY2D1,non_coding_transcript_exon_variant,,ENST00000536336,;	1315	115	108	SUCCESS
ANO3	63982	.	GRCh37	11	26563568	26563568	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775504019	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	71	0	ENST00000256737.3:c.1107G>T	p.Trp369Cys	p.W369C	ENST00000256737	NM_031418.2	369	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS31447.1	1107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGGCACG	NONE	.	.	hmmpanther:PTHR12308:SF16,hmmpanther:PTHR12308	.	.	ENSP00000256737	.	11/27	.	.	.	.	.	.	.	.	rs775504019	11/27	PASS	ENST00000256737	Transcript	.	.	ENSG00000134343	14004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ANO3_HUMAN	ANO3	HGNC	E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN	.	UPI00001F9ED8	SNV	ANO3,missense_variant,p.Trp223Cys,ENST00000531568,;ANO3,missense_variant,p.Trp353Cys,ENST00000525139,;ANO3,missense_variant,p.Trp369Cys,ENST00000256737,;ANO3,missense_variant,p.Trp353Cys,ENST00000537978,;ANO3,non_coding_transcript_exon_variant,,ENST00000529242,;	1959	71	96	SUCCESS
OR8U1	219417	.	GRCh37	11	56143353	56143353	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	43	0	ENST00000302270.1:c.254T>C	p.Phe85Ser	p.F85S	ENST00000302270	NM_001005204.1	85	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS41647.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTCTTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF107,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304188	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302270	Transcript	.	.	ENSG00000172199	19611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	OR8U1_HUMAN	OR8U1	HGNC	.	.	UPI0000061EEF	SNV	OR8U1,missense_variant,p.Phe85Ser,ENST00000302270,;	254	43	55	SUCCESS
OR5M9	390162	.	GRCh37	11	56230205	56230205	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199694619	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	69	0	ENST00000279791.1:c.673C>T	p.Arg225Cys	p.R225C	ENST00000279791	NM_001004743.1	225	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS31531.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGTAGCA	SITE|p.R225C|c.673C>T|4,CODON|p.R225H|c.674G>A|3	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF13,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	A:0.001	.	ENSP00000279791	A:0	1/1	.	.	.	.	.	.	.	.	rs199694619,COSM466964	1/1	PASS	ENST00000279791	Transcript	.	A:0.0002	ENSG00000150269	15294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.103)	A:0	deleterious(0.03)	0,1	OR5M9_HUMAN	OR5M9	HGNC	.	.	UPI0000061E81	SNV	OR5M9,missense_variant,p.Arg225Cys,ENST00000279791,;	673	69	93	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57070061	57070061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764635374	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	78	0	ENST00000358252.3:c.4555G>A	p.Glu1519Lys	p.E1519K	ENST00000358252	NM_033396.2	1519	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7951.1	4555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCTGTCT	NONE	byFrequency	.	hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	6/11	.	.	.	.	.	.	.	.	rs764635374	6/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	deleterious(0.01)	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,missense_variant,p.Glu1519Lys,ENST00000532437,;TNKS1BP1,missense_variant,p.Glu1519Lys,ENST00000358252,;TNKS1BP1,non_coding_transcript_exon_variant,,ENST00000427750,;TNKS1BP1,intron_variant,,ENST00000528882,;TNKS1BP1,upstream_gene_variant,,ENST00000532273,;	4867	78	76	SUCCESS
MYRF	745	.	GRCh37	11	61537823	61537823	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748557321	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	131	0	ENST00000278836.5:c.566C>T	p.Pro189Leu	p.P189L	ENST00000278836	NM_001127392.1	189	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44622.1	566	RADIA|SOMATICSNIPER|VARSCANS	.	CCCCCCGCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16	.	.	ENSP00000278836	.	5/27	.	.	.	.	.	.	.	.	rs748557321	5/27	PASS	ENST00000278836	Transcript	.	.	ENSG00000124920	1181	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	tolerated(0.1)	.	MRF_HUMAN	MYRF	HGNC	.	.	UPI0000D45F7B	SNV	MYRF,missense_variant,p.Pro189Leu,ENST00000278836,;MYRF,missense_variant,p.Pro180Leu,ENST00000265460,;MYRF,upstream_gene_variant,,ENST00000327797,;TMEM258,intron_variant,,ENST00000535042,;MYRF,downstream_gene_variant,,ENST00000537766,;	662	131	121	SUCCESS
CLPB	81570	.	GRCh37	11	72069922	72069922	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	23	0	ENST00000294053.3:c.865+2T>C		p.X289_splice	ENST00000294053	NM_001258394.1	289		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8215.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCACCTCC	NONE	.	.	.	.	.	ENSP00000294053	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294053	Transcript	.	.	ENSG00000162129	30664	.	.	HIGH	6/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLPB_HUMAN	CLPB	HGNC	F5H392_HUMAN	.	UPI00001359D5	SNV	CLPB,splice_donor_variant,,ENST00000539148,;CLPB,splice_donor_variant,,ENST00000340729,;CLPB,splice_donor_variant,,ENST00000544382,;CLPB,splice_donor_variant,,ENST00000535990,;CLPB,splice_donor_variant,,ENST00000437826,;CLPB,splice_donor_variant,,ENST00000445069,;CLPB,splice_donor_variant,,ENST00000544683,;CLPB,splice_donor_variant,,ENST00000538039,;CLPB,splice_donor_variant,,ENST00000294053,;CLPB,splice_donor_variant,,ENST00000543042,;RP11-45F15.2,intron_variant,,ENST00000537727,;CLPB,splice_donor_variant,,ENST00000535477,;CLPB,splice_donor_variant,,ENST00000536297,;	.	23	21	SUCCESS
DLG2	1740	.	GRCh37	11	84996278	84996278	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	65	0	ENST00000376104.2:c.172C>T	p.Gln58Ter	p.Q58*	ENST00000376104	NM_001142699.1	58	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS44690.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGAAGTC	NONE	.	.	PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119	.	.	ENSP00000365272	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,stop_gained,p.Gln58Ter,ENST00000543673,;DLG2,stop_gained,p.Gln58Ter,ENST00000376104,;	484	65	67	SUCCESS
ST5	0	.	GRCh37	11	8752073	8752073	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764376826	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	66	0	ENST00000534127.1:c.764G>A	p.Arg255Gln	p.R255Q	ENST00000534127	NM_005418.3	255	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS7791.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGGTAG	NONE	.	.	.	.	.	ENSP00000433528	.	6/23	.	.	.	.	.	.	.	.	rs764376826	6/23	PASS	ENST00000534127	Transcript	.	.	ENSG00000166444	11350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.11)	.	ST5_HUMAN	ST5	HGNC	E9PRS6_HUMAN,E9PQM5_HUMAN,E9PPS6_HUMAN,E9PPL2_HUMAN,E9PN93_HUMAN,E9PMP1_HUMAN,E9PMJ9_HUMAN,E9PME1_HUMAN,E9PM32_HUMAN,E9PLH6_HUMAN,E9PLD7_HUMAN,E9PLB6_HUMAN,E9PKM1_HUMAN,E9PKE0_HUMAN,E9PK36_HUMAN,E9PJY5_HUMAN,E9PJP0_HUMAN,E9PII1_HUMAN,E9PI72_HUMAN	.	UPI00001AECB8	SNV	ST5,missense_variant,p.Arg255Gln,ENST00000357665,;ST5,missense_variant,p.Arg255Gln,ENST00000534127,;ST5,missense_variant,p.Arg255Gln,ENST00000313726,;ST5,intron_variant,,ENST00000530438,;ST5,intron_variant,,ENST00000526057,;ST5,intron_variant,,ENST00000530580,;ST5,intron_variant,,ENST00000531093,;ST5,intron_variant,,ENST00000528196,;ST5,intron_variant,,ENST00000526757,;ST5,intron_variant,,ENST00000526126,;ST5,intron_variant,,ENST00000528527,;ST5,intron_variant,,ENST00000533225,;ST5,intron_variant,,ENST00000527510,;ST5,downstream_gene_variant,,ENST00000526828,;ST5,downstream_gene_variant,,ENST00000530938,;ST5,downstream_gene_variant,,ENST00000526241,;ST5,downstream_gene_variant,,ENST00000533471,;ST5,downstream_gene_variant,,ENST00000527516,;ST5,downstream_gene_variant,,ENST00000533016,;ST5,upstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000524757,;ST5,downstream_gene_variant,,ENST00000534248,;ST5,downstream_gene_variant,,ENST00000527392,;ST5,downstream_gene_variant,,ENST00000527347,;ST5,downstream_gene_variant,,ENST00000530959,;ST5,downstream_gene_variant,,ENST00000533580,;ST5,downstream_gene_variant,,ENST00000534665,;ST5,downstream_gene_variant,,ENST00000533681,;ST5,downstream_gene_variant,,ENST00000525169,;ST5,downstream_gene_variant,,ENST00000526155,;ST5,downstream_gene_variant,,ENST00000528523,;ST5,downstream_gene_variant,,ENST00000527473,;ST5,downstream_gene_variant,,ENST00000527930,;ST5,non_coding_transcript_exon_variant,,ENST00000526221,;ST5,intron_variant,,ENST00000532651,;ST5,intron_variant,,ENST00000533425,;ST5,downstream_gene_variant,,ENST00000529940,;ST5,downstream_gene_variant,,ENST00000534783,;ST5,intron_variant,,ENST00000532734,;ST5,upstream_gene_variant,,ENST00000527870,;	1150	66	72	SUCCESS
FAT3	120114	.	GRCh37	11	92495069	92495069	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	42	86	0	ENST00000298047.6:c.3717G>T	p.Trp1239Cys	p.W1239C	ENST00000298047		1239	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	.	3717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGGGTGGT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Trp1239Cys,ENST00000298047,;FAT3,missense_variant,p.Trp1239Cys,ENST00000409404,;FAT3,missense_variant,p.Trp1089Cys,ENST00000525166,;RP11-203F8.1,intron_variant,,ENST00000529884,;	3734	86	118	SUCCESS
ZNF143	7702	.	GRCh37	11	9496154	9496154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	110	0	ENST00000396602.2:c.347C>A	p.Thr116Lys	p.T116K	ENST00000396602	NM_003442.5	116	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS7799.2	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACAGCAT	NONE	.	.	hmmpanther:PTHR11389:SF362,hmmpanther:PTHR11389	.	.	ENSP00000379847	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000396602	Transcript	.	.	ENSG00000166478	12928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN143_HUMAN	ZNF143	HGNC	E9PPB0_HUMAN,E9PJF2_HUMAN,C9JTC5_HUMAN,C9JCG1_HUMAN,C9J2G7_HUMAN	.	UPI00001F9D01	SNV	ZNF143,missense_variant,p.Thr84Lys,ENST00000533542,;ZNF143,missense_variant,p.Thr116Lys,ENST00000531943,;ZNF143,missense_variant,p.Thr85Lys,ENST00000396597,;ZNF143,missense_variant,p.Thr116Lys,ENST00000534265,;ZNF143,missense_variant,p.Thr116Lys,ENST00000526657,;ZNF143,missense_variant,p.Thr116Lys,ENST00000438144,;ZNF143,missense_variant,p.Thr116Lys,ENST00000396602,;ZNF143,missense_variant,p.Thr115Lys,ENST00000396604,;ZNF143,missense_variant,p.Thr115Lys,ENST00000412390,;ZNF143,missense_variant,p.Thr115Lys,ENST00000532577,;ZNF143,missense_variant,p.Thr115Lys,ENST00000530463,;ZNF143,intron_variant,,ENST00000299606,;ZNF143,downstream_gene_variant,,ENST00000417726,;ZNF143,downstream_gene_variant,,ENST00000414370,;ZNF143,3_prime_UTR_variant,,ENST00000496276,;ZNF143,downstream_gene_variant,,ENST00000527597,;	466	111	114	SUCCESS
PLBD2	196463	.	GRCh37	12	113825646	113825646	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1281604818	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	103	1	ENST00000280800.3:c.1537C>T	p.Pro513Ser	p.P513S	ENST00000280800	NM_173542.3	513	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9168.1	1537	RADIA|MUTECT|MUSE	.	TCAACCCGGCC	NONE	.	.	hmmpanther:PTHR12370:SF3,hmmpanther:PTHR12370,Pfam_domain:PF04916	.	.	ENSP00000280800	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000280800	Transcript	.	.	ENSG00000151176	27283	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.533)	.	deleterious(0.01)	.	PLBL2_HUMAN	PLBD2	HGNC	.	.	UPI000013DC40	SNV	PLBD2,missense_variant,p.Pro513Ser,ENST00000280800,;PLBD2,missense_variant,p.Pro481Ser,ENST00000545182,;SDS,downstream_gene_variant,,ENST00000257549,;	1568	104	104	SUCCESS
TAOK3	51347	.	GRCh37	12	118599689	118599689	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	55	0	ENST00000392533.3:c.2043G>T	p.Thr681=	p.T681=	ENST00000392533	NM_016281.3	681	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9188.1	2043	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCGTCTG	NONE	.	.	hmmpanther:PTHR24361:SF187,hmmpanther:PTHR24361	.	.	ENSP00000376317	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000392533	Transcript	.	.	ENSG00000135090	18133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAOK3_HUMAN	TAOK3	HGNC	G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN	.	UPI000007231B	SNV	TAOK3,synonymous_variant,p.%3D,ENST00000392533,;TAOK3,synonymous_variant,p.%3D,ENST00000537952,;TAOK3,synonymous_variant,p.%3D,ENST00000419821,;AC026366.1,upstream_gene_variant,,ENST00000408353,;TAOK3,upstream_gene_variant,,ENST00000543709,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;TAOK3,upstream_gene_variant,,ENST00000537569,;	2534	55	73	SUCCESS
KIAA1551	0	.	GRCh37	12	32137127	32137127	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	113	0	ENST00000312561.4:c.3238A>G	p.Thr1080Ala	p.T1080A	ENST00000312561	NM_018169.3	1080	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8725.2	3238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAACTACA	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.12)	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,missense_variant,p.Thr1080Ala,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	3652	113	135	SUCCESS
GALNT8	26290	.	GRCh37	12	4829825	4829825	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	100	0	ENST00000252318.2:c.-19G>C		p.*7*	ENST00000252318	NM_017417.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8533.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGGACGAC	NONE	.	.	.	.	.	ENSP00000252318	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000252318	Transcript	.	.	ENSG00000130035	4130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT8_HUMAN	GALNT8	HGNC	Q68VJ3_HUMAN	.	UPI0000070DEC	SNV	GALNT8,5_prime_UTR_variant,,ENST00000252318,;RP11-234B24.2,upstream_gene_variant,,ENST00000527518,;RP11-234B24.6,intron_variant,,ENST00000544741,;RP11-234B24.6,intron_variant,,ENST00000543979,;	319	100	112	SUCCESS
KCNA6	3742	.	GRCh37	12	4919737	4919737	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	65	1	ENST00000280684.3:c.530C>G	p.Ala177Gly	p.A177G	ENST00000280684		177	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS8534.1	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGCCATCG	NONE	.	.	Prints_domain:PR01496,Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Transmembrane_helices:TMhelix	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,missense_variant,p.Ala177Gly,ENST00000433855,;KCNA6,missense_variant,p.Ala177Gly,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	1396	66	86	SUCCESS
TFCP2	7024	.	GRCh37	12	51489814	51489814	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	68	0	ENST00000257915.5:c.1429A>G	p.Asn477Asp	p.N477D	ENST00000257915	NM_005653.4	477	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS8808.1	1429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTCTGTA	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF11	.	.	ENSP00000257915	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000257915	Transcript	.	.	ENSG00000135457	11748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	TFCP2_HUMAN	TFCP2	HGNC	F8VWL0_HUMAN	.	UPI0000071CCA	SNV	TFCP2,missense_variant,p.Asn477Asp,ENST00000257915,;TFCP2,missense_variant,p.Asn426Asp,ENST00000548115,;TFCP2,missense_variant,p.Asn426Asp,ENST00000307660,;TFCP2,missense_variant,p.Asn379Asp,ENST00000548108,;TFCP2,missense_variant,p.Asn399Asp,ENST00000549867,;TFCP2,non_coding_transcript_exon_variant,,ENST00000546822,;	1888	68	68	SUCCESS
PHC1	1911	.	GRCh37	12	9085350	9085350	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	18	106	0	ENST00000543824.1:c.1297C>A	p.Gln433Lys	p.Q433K	ENST00000543824		433	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS8597.1	1297	RADIA|MUSE|VARSCANS	.	AACAGCAACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12247:SF21,hmmpanther:PTHR12247	.	.	ENSP00000440674	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.18)	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,missense_variant,p.Gln433Lys,ENST00000543824,;PHC1,missense_variant,p.Gln212Lys,ENST00000536844,;PHC1,missense_variant,p.Gln388Lys,ENST00000433083,;PHC1,missense_variant,p.Gln69Lys,ENST00000537610,;PHC1,missense_variant,p.Gln433Lys,ENST00000544916,;PHC1,intron_variant,,ENST00000542346,;PHC1,downstream_gene_variant,,ENST00000539063,;PHC1,non_coding_transcript_exon_variant,,ENST00000433847,;PHC1,non_coding_transcript_exon_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,upstream_gene_variant,,ENST00000535510,;PHC1,upstream_gene_variant,,ENST00000540809,;	1629	106	125	SUCCESS
TMTC4	84899	.	GRCh37	13	101315425	101315425	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	6	159	0	ENST00000376234.3:c.288C>G	p.Tyr96Ter	p.Y96*	ENST00000376234	NM_001079669.1	96	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS9497.2	345	MUTECT|MUSE	.	AGGTAGTAGTT	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF374	.	.	ENSP00000343871	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000342624	Transcript	.	.	ENSG00000125247	25904	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMTC4_HUMAN	TMTC4	HGNC	C9K0R2_HUMAN	.	UPI000004B63E	SNV	TMTC4,stop_gained,p.Tyr96Ter,ENST00000376234,;TMTC4,stop_gained,p.Tyr115Ter,ENST00000342624,;TMTC4,intron_variant,,ENST00000328767,;TMTC4,3_prime_UTR_variant,,ENST00000440120,;	604	159	169	SUCCESS
TDRD3	81550	.	GRCh37	13	61103006	61103006	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	244	37	336	0	ENST00000196169.3:c.1368G>C	p.Arg456Ser	p.R456S	ENST00000196169	NM_001146071.1	456	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS53872.1	1647	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGAAATC	NONE	.	.	hmmpanther:PTHR13681	.	.	ENSP00000440190	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000535286	Transcript	.	.	ENSG00000083544	20612	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.126)	.	deleterious(0.03)	.	TDRD3_HUMAN	TDRD3	HGNC	B1AMN9_HUMAN	.	UPI000174200C	SNV	TDRD3,missense_variant,p.Arg456Ser,ENST00000377894,;TDRD3,missense_variant,p.Arg456Ser,ENST00000196169,;TDRD3,missense_variant,p.Arg456Ser,ENST00000377881,;TDRD3,missense_variant,p.Arg549Ser,ENST00000535286,;TDRD3,upstream_gene_variant,,ENST00000471710,;TDRD3,downstream_gene_variant,,ENST00000484389,;	1719	336	282	SUCCESS
RNF219	0	.	GRCh37	13	79233262	79233262	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs774802490	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	109	0	ENST00000282003.6:c.-7C>T		p.*3*	ENST00000282003	NM_024546.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31997.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGTTCAG	NONE	.	.	.	.	.	ENSP00000282003	.	1/6	.	.	.	.	.	.	.	.	rs774802490	1/6	PASS	ENST00000282003	Transcript	.	.	ENSG00000152193	20308	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN219_HUMAN	RNF219	HGNC	.	.	UPI0000458868	SNV	RNF219,5_prime_UTR_variant,,ENST00000282003,;	53	109	88	SUCCESS
OR11H6	122748	.	GRCh37	14	20692717	20692717	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	75	0	ENST00000315519.2:c.849G>A	p.Gly283=	p.G283=	ENST00000315519	NM_001004480.1	283	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32033.1	849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGAACCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF90,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000319071	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315519	Transcript	.	.	ENSG00000176219	15349	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O11H6_HUMAN	OR11H6	HGNC	.	.	UPI000004B1F1	SNV	OR11H6,synonymous_variant,p.%3D,ENST00000315519,;OR11H7,upstream_gene_variant,,ENST00000553765,;	927	75	69	SUCCESS
SALL2	6297	.	GRCh37	14	21992917	21992917	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	35	0	ENST00000327430.3:c.945C>A	p.Ala315=	p.A315=	ENST00000327430	NM_005407.1	315	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32045.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGGCAAT	NONE	.	.	hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233	.	.	ENSP00000333537	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327430	Transcript	.	.	ENSG00000165821	10526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL2_HUMAN	SALL2	HGNC	F5H1G6_HUMAN	.	UPI00001AF54D	SNV	SALL2,synonymous_variant,p.%3D,ENST00000450879,;SALL2,synonymous_variant,p.%3D,ENST00000327430,;SALL2,synonymous_variant,p.%3D,ENST00000546363,;SALL2,intron_variant,,ENST00000538754,;SALL2,intron_variant,,ENST00000317492,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	1240	35	48	SUCCESS
CLEC14A	161198	.	GRCh37	14	38723785	38723785	+	synonymous_variant	Silent	SNP	C	C	A	rs777800789	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	78	1	ENST00000342213.2:c.1443G>T	p.Ala481=	p.A481=	ENST00000342213	NM_175060.2	481	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9667.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCGCCAG	NONE	.	.	hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838	.	.	ENSP00000353013	.	1/1	.	.	.	.	.	.	.	.	rs777800789	1/1	PASS	ENST00000342213	Transcript	.	.	ENSG00000176435	19832	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC14_HUMAN	CLEC14A	HGNC	.	.	UPI000000CBD4	SNV	CLEC14A,synonymous_variant,p.%3D,ENST00000342213,;	1790	79	90	SUCCESS
CPSF2	53981	.	GRCh37	14	92625383	92625414	+	frameshift_variant	Frame_Shift_Del	DEL	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	-	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	.	.	.	.	.	.	.	.	.	.	.	.	.	183	57	256	0	ENST00000298875.4:c.1881_1912del	p.Leu628SerfsTer18	p.L628Sfs*18	ENST00000298875	NM_017437.2	626	gcTGAATTAGCTTGGATAGATGGTGTCTTAGATAtg/gctg	0	.	.	.	.	.	-	AELAWIDGVLDM/AX	protein_coding	YES	CCDS9902.1	1878-1909	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATGCTGAATTAGCTTGGATAGATGGTGTCTTAGATATGAGA	NONE	.	.	hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,Pfam_domain:PF13299	.	.	ENSP00000298875	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000298875	Transcript	.	.	ENSG00000165934	2325	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPSF2_HUMAN	CPSF2	HGNC	G3V3T7_HUMAN,B3KN45_HUMAN	.	UPI0000185F22	deletion	CPSF2,frameshift_variant,p.Leu145SerfsTer18,ENST00000555244,;CPSF2,frameshift_variant,p.Leu628SerfsTer18,ENST00000298875,;CPSF2,downstream_gene_variant,,ENST00000556622,;	2163-2194	256	240	SUCCESS
UNC79	57578	.	GRCh37	14	94173087	94173087	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	121	0	ENST00000393151.2:c.7745T>A	p.Ile2582Asn	p.I2582N	ENST00000393151		2582	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS9911.2	7214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTATTCAGA	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	50/50	.	.	.	.	.	.	.	.	.	50/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Ile2582Asn,ENST00000393151,;UNC79,missense_variant,p.Ile2405Asn,ENST00000256339,;UNC79,missense_variant,p.Ile2604Asn,ENST00000553484,;UNC79,missense_variant,p.Ile2543Asn,ENST00000555664,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;	7869	121	109	SUCCESS
AK7	122481	.	GRCh37	14	96953300	96953300	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	63	0	ENST00000267584.4:c.2040G>A	p.Leu680=	p.L680=	ENST00000267584	NM_152327.3	680	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9945.1	2040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTGAGAAA	NONE	.	.	hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF71,Pfam_domain:PF05186	.	.	ENSP00000267584	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000267584	Transcript	.	.	ENSG00000140057	20091	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAD7_HUMAN	AK7	HGNC	.	.	UPI00001FDB1D	SNV	AK7,synonymous_variant,p.%3D,ENST00000267584,;AK7,synonymous_variant,p.%3D,ENST00000554706,;	2084	63	65	SUCCESS
RYR3	6263	.	GRCh37	15	33961610	33961610	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	98	0	ENST00000389232.4:c.5675T>C	p.Ile1892Thr	p.I1892T	ENST00000389232	NM_001036.3	1892	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS45210.1	5675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATTCGGG	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	37/104	.	.	.	.	.	.	.	.	.	37/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Ile1892Thr,ENST00000389232,;RYR3,missense_variant,p.Ile1892Thr,ENST00000415757,;	5745	98	90	SUCCESS
NUTM1	256646	.	GRCh37	15	34640395	34640395	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	81	0	ENST00000333756.4:c.242G>A	p.Ser81Asn	p.S81N	ENST00000333756	NM_175741.1	81	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS32190.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGTGGGG	NONE	.	.	hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12881	.	.	ENSP00000329448	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000333756	Transcript	.	.	ENSG00000184507	29919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.17)	.	NUTM1_HUMAN	NUTM1	HGNC	.	.	UPI000016159A	SNV	NUTM1,missense_variant,p.Ser109Asn,ENST00000537011,;NUTM1,missense_variant,p.Ser81Asn,ENST00000333756,;NUTM1,missense_variant,p.Ser99Asn,ENST00000438749,;	397	81	101	SUCCESS
RP11-516C1.1	0	.	GRCh37	15	44705651	44705664	+	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	Intron	DEL	TCATTCTACTTTGT	TCATTCTACTTTGT	-	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	TCATTCTACTTTGT	TCATTCTACTTTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	173	101	248	0	ENST00000558047.1:n.189-27_189-14del		p.*63*	ENST00000558047				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10108.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGAAATCATTCTACTTTGTCCTTT	NONE	.	.	.	.	.	ENSP00000299957	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000299957	Transcript	.	.	ENSG00000166734	24892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASC4_HUMAN	CASC4	HGNC	H0YMR0_HUMAN,H0YKJ7_HUMAN	.	UPI0000140255	deletion	CASC4,3_prime_UTR_variant,,ENST00000360824,;CASC4,3_prime_UTR_variant,,ENST00000299957,;CASC4,3_prime_UTR_variant,,ENST00000558847,;CASC4,3_prime_UTR_variant,,ENST00000345795,;CASC4,intron_variant,,ENST00000561305,;RP11-516C1.1,intron_variant,,ENST00000558047,;CASC4,downstream_gene_variant,,ENST00000559151,;	1657-1670	248	274	SUCCESS
GABPB1	2553	.	GRCh37	15	50595257	50595257	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376724985	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	28	0	ENST00000220429.8:c.340C>A	p.His114Asn	p.H114N	ENST00000220429		114	Cac/Aac	0	A:0	.	.	.	.	T	H/N	protein_coding	YES	CCDS32239.1	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGTTCTG	NONE	byCluster	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24193:SF0,hmmpanther:PTHR24193,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	A:0.0001	ENSP00000220429	.	4/9	.	.	.	.	.	.	.	.	rs376724985	4/9	PASS	ENST00000220429	Transcript	.	.	ENSG00000104064	4074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.06)	.	GABP1_HUMAN	GABPB1	HGNC	H0YNZ0_HUMAN,F5H7I4_HUMAN	.	UPI000012AFB3	SNV	GABPB1,missense_variant,p.His114Asn,ENST00000560825,;GABPB1,missense_variant,p.His114Asn,ENST00000380877,;GABPB1,missense_variant,p.His114Asn,ENST00000429662,;GABPB1,missense_variant,p.His114Asn,ENST00000220429,;GABPB1,missense_variant,p.His38Asn,ENST00000543881,;GABPB1,missense_variant,p.His114Asn,ENST00000359031,;GABPB1,missense_variant,p.His114Asn,ENST00000396464,;GABPB1,downstream_gene_variant,,ENST00000558335,;GABPB1,downstream_gene_variant,,ENST00000558970,;GABPB1,upstream_gene_variant,,ENST00000561010,;GABPB1,intron_variant,,ENST00000559100,;	509	28	42	SUCCESS
ITGA11	22801	.	GRCh37	15	68628127	68628127	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1485925620	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	73	0	ENST00000315757.7:c.1333G>A	p.Ala445Thr	p.A445T	ENST00000315757	NM_001004439.1	445	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45291.1	1333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCTCCGG	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF21,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000327290	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000315757	Transcript	.	.	ENSG00000137809	6136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	ITA11_HUMAN	ITGA11	HGNC	.	.	UPI00001FE74D	SNV	ITGA11,missense_variant,p.Ala445Thr,ENST00000315757,;ITGA11,missense_variant,p.Ala445Thr,ENST00000423218,;ITGA11,non_coding_transcript_exon_variant,,ENST00000566429,;ITGA11,non_coding_transcript_exon_variant,,ENST00000569346,;	1420	73	66	SUCCESS
SLCO3A1	28232	.	GRCh37	15	92459362	92459362	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761312118	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	55	0	ENST00000318445.6:c.320G>T	p.Arg107Leu	p.R107L	ENST00000318445	NM_013272.3	107	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS10371.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGCCTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000320634	.	2/10	.	.	.	.	.	.	.	.	rs761312118	2/10	PASS	ENST00000318445	Transcript	.	.	ENSG00000176463	10952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.27)	.	SO3A1_HUMAN	SLCO3A1	HGNC	.	.	UPI00001AF1F7	SNV	SLCO3A1,missense_variant,p.Arg107Leu,ENST00000318445,;SLCO3A1,missense_variant,p.Arg107Leu,ENST00000424469,;SLCO3A1,missense_variant,p.Arg49Leu,ENST00000553304,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	534	55	45	SUCCESS
IGFALS	3483	.	GRCh37	16	1841152	1841152	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200564045	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	69	0	ENST00000215539.3:c.1267G>C	p.Val423Leu	p.V423L	ENST00000215539		423	Gtg/Ctg	0	.	T:0	.	T:0	.	G	V/L	protein_coding	YES	CCDS53982.1	1381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACGAGGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF67,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	T:0.001	.	ENSP00000416683	T:0	2/2	.	.	.	.	.	.	.	.	rs200564045	2/2	PASS	ENST00000415638	Transcript	.	T:0.0002	ENSG00000099769	5468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	T:0	deleterious(0.04)	.	ALS_HUMAN	IGFALS	HGNC	.	.	UPI00019863AB	SNV	IGFALS,missense_variant,p.Val461Leu,ENST00000415638,;IGFALS,missense_variant,p.Val423Leu,ENST00000215539,;SPSB3,intron_variant,,ENST00000569769,;NUBP2,downstream_gene_variant,,ENST00000565134,;NUBP2,downstream_gene_variant,,ENST00000565987,;HAGH,downstream_gene_variant,,ENST00000564445,;NUBP2,downstream_gene_variant,,ENST00000262302,;NUBP2,downstream_gene_variant,,ENST00000562263,;NUBP2,downstream_gene_variant,,ENST00000543305,;IGFALS,downstream_gene_variant,,ENST00000568221,;NUBP2,downstream_gene_variant,,ENST00000563136,;NUBP2,downstream_gene_variant,,ENST00000568287,;NUBP2,downstream_gene_variant,,ENST00000568706,;NUBP2,downstream_gene_variant,,ENST00000569898,;NUBP2,downstream_gene_variant,,ENST00000565603,;NUBP2,downstream_gene_variant,,ENST00000563821,;NUBP2,downstream_gene_variant,,ENST00000566447,;NUBP2,downstream_gene_variant,,ENST00000567700,;NUBP2,downstream_gene_variant,,ENST00000568834,;NUBP2,downstream_gene_variant,,ENST00000564227,;NUBP2,downstream_gene_variant,,ENST00000566090,;	1461	69	48	SUCCESS
C16orf54	283897	.	GRCh37	16	29755994	29755994	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	73	174	1	ENST00000329410.3:c.279G>A	p.Glu93=	p.E93=	ENST00000329410	NM_175900.3	93	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS10652.1	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCTCAGA	NONE	.	.	.	.	.	ENSP00000327506	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329410	Transcript	.	.	ENSG00000185905	26649	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP054_HUMAN	C16orf54	HGNC	.	.	UPI0000141B48	SNV	C16orf54,synonymous_variant,p.%3D,ENST00000329410,;AC009133.17,upstream_gene_variant,,ENST00000565600,;	375	175	160	SUCCESS
ANKS3	124401	.	GRCh37	16	4780104	4780104	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747928992	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	55	0	ENST00000304283.4:c.47G>A	p.Arg16His	p.R16H	ENST00000304283	NM_133450.3	16	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS10520.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCGGTTC	NONE	.	.	hmmpanther:PTHR24184:SF6,hmmpanther:PTHR24184	.	.	ENSP00000304586	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000304283	Transcript	.	.	ENSG00000168096	29422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.13)	.	ANKS3_HUMAN	ANKS3	HGNC	K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN	.	UPI00001C08FE	SNV	ANKS3,missense_variant,p.Arg16His,ENST00000304283,;ANKS3,missense_variant,p.Arg16His,ENST00000592421,;ANKS3,missense_variant,p.Arg16His,ENST00000592711,;ANKS3,missense_variant,p.Arg16His,ENST00000592190,;ANKS3,missense_variant,p.Arg16His,ENST00000590147,;ANKS3,missense_variant,p.Arg16His,ENST00000589065,;ANKS3,5_prime_UTR_variant,,ENST00000446014,;ANKS3,5_prime_UTR_variant,,ENST00000450067,;ANKS3,5_prime_UTR_variant,,ENST00000592698,;ANKS3,intron_variant,,ENST00000586605,;ANKS3,intron_variant,,ENST00000586166,;ANKS3,intron_variant,,ENST00000585773,;C16orf71,upstream_gene_variant,,ENST00000590191,;C16orf71,upstream_gene_variant,,ENST00000586724,;C16orf71,upstream_gene_variant,,ENST00000299320,;RP11-127I20.7,downstream_gene_variant,,ENST00000588099,;ANKS3,missense_variant,p.Arg16His,ENST00000587005,;ANKS3,missense_variant,p.Arg16His,ENST00000592068,;ANKS3,missense_variant,p.Arg16His,ENST00000592077,;ANKS3,missense_variant,p.Arg16His,ENST00000590193,;ANKS3,missense_variant,p.Arg16His,ENST00000590730,;ANKS3,missense_variant,p.Arg16His,ENST00000586159,;ANKS3,missense_variant,p.Arg16His,ENST00000591281,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590689,;ANKS3,non_coding_transcript_exon_variant,,ENST00000593120,;ANKS3,upstream_gene_variant,,ENST00000591653,;C16orf71,upstream_gene_variant,,ENST00000586256,;ANKS3,upstream_gene_variant,,ENST00000586632,;ANKS3,upstream_gene_variant,,ENST00000590803,;	342	55	63	SUCCESS
NFAT5	10725	.	GRCh37	16	69724937	69724937	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	70	179	0	ENST00000354436.2:c.1815A>C	p.Glu605Asp	p.E605D	ENST00000354436	NM_006599.3	605	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS45518.1	1869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAAGATGT	NONE	.	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF7	.	.	ENSP00000396538	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000432919	Transcript	.	.	ENSG00000102908	7774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.289)	.	.	.	NFAT5_HUMAN	NFAT5	HGNC	.	.	UPI000049DE1B	SNV	NFAT5,missense_variant,p.Glu622Asp,ENST00000567239,;NFAT5,missense_variant,p.Glu623Asp,ENST00000432919,;NFAT5,missense_variant,p.Glu605Asp,ENST00000354436,;NFAT5,missense_variant,p.Glu529Asp,ENST00000349945,;NFAT5,missense_variant,p.Glu529Asp,ENST00000393742,;NFAT5,missense_variant,p.Glu529Asp,ENST00000566899,;NFAT5,intron_variant,,ENST00000565301,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,non_coding_transcript_exon_variant,,ENST00000568832,;NFAT5,downstream_gene_variant,,ENST00000567990,;NFAT5,downstream_gene_variant,,ENST00000562429,;	3077	179	119	SUCCESS
HAGHL	84264	.	GRCh37	16	778845	778845	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776435642	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	156	0	ENST00000341413.4:c.550A>G	p.Lys184Glu	p.K184E	ENST00000341413		184	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS32354.1	550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAAAGTG	NONE	.	.	HAMAP:MF_01374,hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935,Gene3D:3.60.15.10,TIGRFAM_domain:TIGR03413,Superfamily_domains:SSF56281	.	.	ENSP00000374353	.	6/8	.	.	.	.	.	.	.	.	rs776435642	6/8	PASS	ENST00000389703	Transcript	.	.	ENSG00000103253	14177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.17)	.	HAGHL_HUMAN	HAGHL	HGNC	H3BT20_HUMAN,B4DED4_HUMAN	.	UPI00000498AB	SNV	HAGHL,missense_variant,p.Lys184Glu,ENST00000389703,;HAGHL,missense_variant,p.Lys184Glu,ENST00000561546,;HAGHL,missense_variant,p.Lys184Glu,ENST00000562141,;HAGHL,missense_variant,p.Lys184Glu,ENST00000341413,;HAGHL,3_prime_UTR_variant,,ENST00000564537,;HAGHL,3_prime_UTR_variant,,ENST00000564545,;HAGHL,3_prime_UTR_variant,,ENST00000549114,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000301694,;CCDC78,upstream_gene_variant,,ENST00000293889,;HAGHL,downstream_gene_variant,,ENST00000568141,;HAGHL,downstream_gene_variant,,ENST00000562187,;HAGHL,downstream_gene_variant,,ENST00000567414,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,downstream_gene_variant,,ENST00000563792,;CCDC78,upstream_gene_variant,,ENST00000423653,;HAGHL,non_coding_transcript_exon_variant,,ENST00000563156,;HAGHL,upstream_gene_variant,,ENST00000569604,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,3_prime_UTR_variant,,ENST00000561561,;HAGHL,3_prime_UTR_variant,,ENST00000569385,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;CCDC78,upstream_gene_variant,,ENST00000471861,;NARFL,downstream_gene_variant,,ENST00000562752,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000478979,;CCDC78,upstream_gene_variant,,ENST00000466708,;HAGHL,downstream_gene_variant,,ENST00000569143,;HAGHL,downstream_gene_variant,,ENST00000561750,;CCDC78,upstream_gene_variant,,ENST00000544996,;NARFL,downstream_gene_variant,,ENST00000566650,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000474647,;CCDC78,upstream_gene_variant,,ENST00000481804,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000460023,;NARFL,downstream_gene_variant,,ENST00000565341,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000538176,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000485091,;	789	156	122	SUCCESS
CDH15	1013	.	GRCh37	16	89246636	89246636	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	41	107	0	ENST00000289746.2:c.230G>T	p.Ser77Ile	p.S77I	ENST00000289746	NM_004933.2	77	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS10976.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGCGTCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000289746	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	tolerated(0.12)	.	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	SNV	CDH15,missense_variant,p.Ser77Ile,ENST00000289746,;CDH15,intron_variant,,ENST00000521087,;CDH15,non_coding_transcript_exon_variant,,ENST00000524089,;	295	108	70	SUCCESS
TOP2A	7153	.	GRCh37	17	38548857	38548857	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	46	0	ENST00000423485.1:c.3944C>A	p.Thr1315Lys	p.T1315K	ENST00000423485	NM_001067.3	1315	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS45672.1	3944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGTTTCT	NONE	.	.	hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169	.	.	ENSP00000411532	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000423485	Transcript	.	.	ENSG00000131747	11989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TOP2A_HUMAN	TOP2A	HGNC	J3QR57_HUMAN,J3KTB7_HUMAN	.	UPI0000137195	SNV	TOP2A,missense_variant,p.Thr1315Lys,ENST00000423485,;TOP2A,upstream_gene_variant,,ENST00000577541,;Y_RNA,upstream_gene_variant,,ENST00000410949,;TOP2A,upstream_gene_variant,,ENST00000578412,;TOP2A,downstream_gene_variant,,ENST00000577706,;	4103	46	55	SUCCESS
EZH1	2145	.	GRCh37	17	40854591	40854591	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	11	84	0	ENST00000428826.2:c.2203C>T	p.Leu735Phe	p.L735F	ENST00000428826		735	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS32659.1	2203	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAGAGCAT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF314,Superfamily_domains:SSF82199	.	.	ENSP00000404658	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000428826	Transcript	.	.	ENSG00000108799	3526	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	EZH1_HUMAN	EZH1	HGNC	K7EPC0_HUMAN,K7EK66_HUMAN	.	UPI000012A3BA	SNV	EZH1,missense_variant,p.Leu735Phe,ENST00000592743,;EZH1,missense_variant,p.Leu665Phe,ENST00000590078,;EZH1,missense_variant,p.Leu695Phe,ENST00000585893,;EZH1,missense_variant,p.Leu735Phe,ENST00000428826,;EZH1,missense_variant,p.Leu596Phe,ENST00000435174,;EZH1,missense_variant,p.Leu726Phe,ENST00000415827,;CNTNAP1,downstream_gene_variant,,ENST00000264638,;CTD-3193K9.3,upstream_gene_variant,,ENST00000592440,;EZH1,downstream_gene_variant,,ENST00000590783,;EZH1,3_prime_UTR_variant,,ENST00000588897,;EZH1,non_coding_transcript_exon_variant,,ENST00000586714,;EZH1,downstream_gene_variant,,ENST00000589846,;CNTNAP1,downstream_gene_variant,,ENST00000591662,;EZH1,downstream_gene_variant,,ENST00000585550,;EZH1,downstream_gene_variant,,ENST00000586103,;EZH1,downstream_gene_variant,,ENST00000591330,;EZH1,downstream_gene_variant,,ENST00000585912,;	2325	84	103	SUCCESS
HOXB1	3211	.	GRCh37	17	46607721	46607721	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	71	185	1	ENST00000239174.6:c.546G>C	p.Trp182Cys	p.W182C	ENST00000239174	NM_002144.3	182	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS32675.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCCAGTC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF167	.	.	ENSP00000355140	.	1/2	.	.	.	.	.	.	.	.	COSM3518707	1/2	PASS	ENST00000239174	Transcript	.	.	ENSG00000120094	5111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	HXB1_HUMAN	HOXB1	HGNC	.	.	UPI0000163BFF	SNV	HOXB1,missense_variant,p.Trp182Cys,ENST00000239174,;HOXB1,missense_variant,p.Trp182Cys,ENST00000577092,;	639	186	198	SUCCESS
MINK1	50488	.	GRCh37	17	4736747	4736747	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	37	0	ENST00000355280.6:c.-132C>A		p.*44*	ENST00000355280	NM_001024937.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45588.1	.	MUTECT|MUSE	.	CCCCTCCCCGG	NONE	.	.	.	.	.	ENSP00000347427	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000355280	Transcript	.	.	ENSG00000141503	17565	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MINK1_HUMAN	MINK1	HGNC	Q9HBM9_HUMAN,Q8NG69_HUMAN	.	UPI00001678BB	SNV	MINK1,5_prime_UTR_variant,,ENST00000347992,;MINK1,5_prime_UTR_variant,,ENST00000355280,;MINK1,upstream_gene_variant,,ENST00000453408,;MINK1,5_prime_UTR_variant,,ENST00000574453,;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,;MINK1,upstream_gene_variant,,ENST00000577021,;	65	37	18	SUCCESS
SRSF1	6426	.	GRCh37	17	56082880	56082880	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	114	0	ENST00000258962.4:c.634C>A	p.Arg212Ser	p.R212S	ENST00000258962	NM_006924.4	212	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11600.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACGACTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF87	.	.	ENSP00000258962	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000258962	Transcript	.	.	ENSG00000136450	10780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.34)	.	SRSF1_HUMAN	SRSF1	HGNC	J3QQV5_HUMAN	.	UPI0000001220	SNV	SRSF1,missense_variant,p.Arg212Ser,ENST00000258962,;SRSF1,missense_variant,p.Arg212Ser,ENST00000584773,;SRSF1,3_prime_UTR_variant,,ENST00000582730,;SRSF1,intron_variant,,ENST00000585096,;RP11-159D12.5,upstream_gene_variant,,ENST00000578794,;SRSF1,upstream_gene_variant,,ENST00000581497,;SRSF1,missense_variant,p.Arg107Ser,ENST00000584668,;SRSF1,3_prime_UTR_variant,,ENST00000581979,;SRSF1,3_prime_UTR_variant,,ENST00000583741,;SRSF1,downstream_gene_variant,,ENST00000578430,;	843	114	97	SUCCESS
SCN4A	6329	.	GRCh37	17	62049209	62049209	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	83	0	ENST00000435607.1:c.484T>C	p.Tyr162His	p.Y162H	ENST00000435607	NM_000334.4	162	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS45761.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTACCTGG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000396320	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000435607	Transcript	.	.	ENSG00000007314	10591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	tolerated(0.05)	.	SCN4A_HUMAN	SCN4A	HGNC	Q9H3L9_HUMAN	.	UPI0000201254	SNV	SCN4A,missense_variant,p.Tyr162His,ENST00000435607,;SCN4A,missense_variant,p.Tyr162His,ENST00000578147,;CTC-264K15.6,downstream_gene_variant,,ENST00000577329,;	561	83	94	SUCCESS
CEP95	90799	.	GRCh37	17	62506387	62506387	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	95	0	ENST00000556440.2:c.245C>G	p.Ser82Cys	p.S82C	ENST00000556440	NM_138363.1	82	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS45763.1	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTCTCACA	NONE	.	.	Gene3D:1.10.418.10,hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545	.	.	ENSP00000450461	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000556440	Transcript	.	.	ENSG00000258890	25141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CEP95_HUMAN	CEP95	HGNC	K7ENV0_HUMAN,B4DMD2_HUMAN	.	UPI000006F4B3	SNV	CEP95,missense_variant,p.Ser82Cys,ENST00000556440,;CEP95,missense_variant,p.Ser82Cys,ENST00000581056,;CEP95,missense_variant,p.Ser10Cys,ENST00000582724,;CEP95,5_prime_UTR_variant,,ENST00000580188,;CEP95,5_prime_UTR_variant,,ENST00000553412,;DDX5,upstream_gene_variant,,ENST00000579091,;DDX5,upstream_gene_variant,,ENST00000583239,;DDX5,upstream_gene_variant,,ENST00000578190,;DDX5,upstream_gene_variant,,ENST00000584279,;DDX5,upstream_gene_variant,,ENST00000581697,;DDX5,upstream_gene_variant,,ENST00000578804,;DDX5,upstream_gene_variant,,ENST00000585060,;DDX5,upstream_gene_variant,,ENST00000583212,;DDX5,upstream_gene_variant,,ENST00000450599,;DDX5,upstream_gene_variant,,ENST00000585111,;DDX5,upstream_gene_variant,,ENST00000577922,;DDX5,upstream_gene_variant,,ENST00000225792,;DDX5,upstream_gene_variant,,ENST00000581806,;DDX5,upstream_gene_variant,,ENST00000584500,;DDX5,upstream_gene_variant,,ENST00000583699,;CEP95,missense_variant,p.Ser82Cys,ENST00000579860,;CEP95,missense_variant,p.Ser82Cys,ENST00000553956,;DDX5,upstream_gene_variant,,ENST00000585223,;DDX5,upstream_gene_variant,,ENST00000540698,;DDX5,upstream_gene_variant,,ENST00000578400,;DDX5,upstream_gene_variant,,ENST00000581230,;DDX5,upstream_gene_variant,,ENST00000581693,;	755	95	110	SUCCESS
YBX2	51087	.	GRCh37	17	7192860	7192860	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373353478	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	67	0	ENST00000007699.5:c.1033G>A	p.Ala345Thr	p.A345T	ENST00000007699	NM_015982.3	345	Gca/Aca	0	T:0.0002	.	.	.	.	T	A/T	protein_coding	YES	CCDS11098.1	1033	RADIA|MUSE	.	GGCTGCGGGCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11544:SF41,hmmpanther:PTHR11544	.	T:0	ENSP00000007699	.	7/9	.	.	.	.	.	.	.	.	rs373353478	7/9	PASS	ENST00000007699	Transcript	.	.	ENSG00000006047	17948	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.499)	.	tolerated_low_confidence(1)	.	YBOX2_HUMAN	YBX2	HGNC	.	.	UPI000006E761	SNV	YBX2,missense_variant,p.Ala145Thr,ENST00000571464,;YBX2,missense_variant,p.Ala345Thr,ENST00000007699,;SLC2A4,downstream_gene_variant,,ENST00000317370,;SLC2A4,downstream_gene_variant,,ENST00000424875,;SLC2A4,downstream_gene_variant,,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000570627,;YBX2,non_coding_transcript_exon_variant,,ENST00000571485,;YBX2,non_coding_transcript_exon_variant,,ENST00000570720,;YBX2,non_coding_transcript_exon_variant,,ENST00000571834,;YBX2,downstream_gene_variant,,ENST00000571127,;SLC2A4,downstream_gene_variant,,ENST00000570783,;SLC2A4,downstream_gene_variant,,ENST00000572485,;	1097	67	38	SUCCESS
TP53	7157	.	GRCh37	17	7577572	7577572	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs730882004	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	80	0	ENST00000269305.4:c.709del	p.Met237CysfsTer10	p.M237Cfs*10	ENST00000269305	NM_001126112.2	237	Atg/tg	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS11118.1	709	INDELOCATOR*|VARSCANI*|PINDEL	pathogenic	TACACATGTAGT	CODON|p.0?|c.1_1182del1182|6,CODON|p.C238G|c.712T>G|3,CODON|p.C145G|c.433T>G|3,CODON|p.C238G|c.712T>G|4,CODON|p.C238R|c.712T>C|17,CODON|p.C238G|c.712T>G|3,CODON|p.C238S|c.712T>A|12,CODON|p.M237I|c.711G>A|15,CODON|p.M237I|c.711G>T|7,CODON|p.M237I|c.711G>C|9,CODON|p.M237I|c.711G>A|78,CODON|p.M237I|c.711G>T|3,CODON|p.M237I|c.711G>A|10,CODON|p.M237I|c.711G>T|31,CODON|p.M144I|c.432G>T|7,CODON|p.M237I|c.711G>A|15,CODON|p.M237I|c.711G>T|6,CODON|p.M237I|c.711G>T|7,CODON|p.M144I|c.432G>A|15,CODON|p.M237I|c.711G>A|9,BUFFER|p.N239_C242delNSSC|c.715_726del12|3,BUFFER|p.S241delS|c.721_723delTCC|3,BUFFER|p.S241fs*6|c.721delT|9,BUFFER|p.S241T|c.721T>A|6,BUFFER|p.S241A|c.721T>G|10,BUFFER|p.S241P|c.721T>C|5,BUFFER|p.S240R|c.720T>A|4,BUFFER|p.S240R|c.720T>G|4,BUFFER|p.S240S|c.720T>C|3,BUFFER|p.S240I|c.719G>T|6,BUFFER|p.S240C|c.718A>T|3,BUFFER|p.S240G|c.718A>G|16,BUFFER|p.N239K|c.717C>G|5,BUFFER|p.N146S|c.437A>G|6,BUFFER|p.N239T|c.716A>C|6,BUFFER|p.N239S|c.716A>G|3,BUFFER|p.N239S|c.716A>G|6,BUFFER|p.N239S|c.716A>G|4,BUFFER|p.N239S|c.716A>G|25,BUFFER|p.N239S|c.716A>G|5,BUFFER|p.N239D|c.715A>G|11,BUFFER|p.N239D|c.715A>G|13,BUFFER|p.N239D|c.715A>G|44,BUFFER|p.N146D|c.436A>G|14,BUFFER|p.N239Y|c.715A>T|6,BUFFER|p.N239D|c.715A>G|14,BUFFER|p.N239fs*1|c.714_715insT|3,BUFFER|p.N239fs*25|c.714_715insN|12,BUFFER|p.N239fs*1|c.714_715insT|4,BUFFER|p.N239fs*1|c.714_715insT|3,BUFFER|p.N146fs*1|c.435_436insT|3,BUFFER|p.C238*|c.714T>A|4,BUFFER|p.C238W|c.714T>G|3,BUFFER|p.C238Y|c.713G>A|7,BUFFER|p.C238F|c.713G>T|12,BUFFER|p.C145F|c.434G>T|12,BUFFER|p.C238Y|c.713G>A|16,BUFFER|p.C238F|c.713G>T|11,BUFFER|p.C238Y|c.713G>A|15,BUFFER|p.C238Y|c.713G>A|65,BUFFER|p.C238F|c.713G>T|42,BUFFER|p.C238Y|c.713G>A|9,BUFFER|p.C238F|c.713G>T|6,BUFFER|p.C145Y|c.434G>A|16,BUFFER|p.C238F|c.713G>T|6,BUFFER|p.C238S|c.713G>C|8,BUFFER|p.M237K|c.710T>A|9,BUFFER|p.M237R|c.710T>G|3,BUFFER|p.M237T|c.710T>C|3,BUFFER|p.M144T|c.431T>C|3,BUFFER|p.M237T|c.710T>C|3,BUFFER|p.M237T|c.710T>C|5,BUFFER|p.M144V|c.430A>G|3,BUFFER|p.M237V|c.709A>G|3,BUFFER|p.M237V|c.709A>G|3,BUFFER|p.M237L|c.709A>T|4,BUFFER|p.M237V|c.709A>G|10,BUFFER|p.Y236delY|c.706_708delTAC|4,BUFFER|p.Y236*|c.708C>G|3,BUFFER|p.Y143*|c.429C>A|4,BUFFER|p.Y236*|c.708C>A|4,BUFFER|p.Y236*|c.708C>A|4,BUFFER|p.Y236*|c.708C>A|11,BUFFER|p.Y236C|c.707A>G|5,BUFFER|p.Y236C|c.707A>G|4,BUFFER|p.Y236C|c.707A>G|11,BUFFER|p.Y236C|c.707A>G|55,BUFFER|p.Y143C|c.428A>G|12,BUFFER|p.Y236C|c.707A>G|11,BUFFER|p.Y236S|c.707A>C|4,BUFFER|p.Y236N|c.706T>A|3,BUFFER|p.Y236N|c.706T>A|16,BUFFER|p.Y236D|c.706T>G|7,BUFFER|p.Y236H|c.706T>C|10,BUFFER|p.Y143N|c.427T>A|3,BUFFER|p.Y236N|c.706T>A|3,BUFFER|p.N235T|c.704A>C|3,BUFFER|p.N235I|c.704A>T|4,BUFFER|p.N235S|c.704A>G|15,BUFFER|p.N235D|c.703A>G|7,BUFFER|p.Y234delY|c.700_702delTAC|3,BUFFER|p.Y234*|c.702C>A|4,BUFFER|p.Y234S|c.701A>C|6,BUFFER|p.Y234C|c.701A>G|11,BUFFER|p.Y141C|c.422A>G|21,BUFFER|p.Y234C|c.701A>G|89,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|6,BUFFER|p.Y234H|c.700T>C|6,BUFFER|p.Y234H|c.700T>C|23,BUFFER|p.Y141H|c.421T>C|6,BUFFER|p.Y234N|c.700T>A|14,BUFFER|p.Y234H|c.700T>C|6,BUFFER|p.Y234D|c.700T>G|4,BUFFER|p.H233L|c.698A>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs730882004,TP53_g.13346A>T,TP53_g.13346A>G,TP53_g.13346del,TP53_g.13346A>C,COSM44525,COSM44965,COSM45162,COSM1610841,COSM220793,COSM220792,COSM1610842,COSM3717649,COSM3717648,COSM220794,COSM1610843	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Met237CysfsTer10,ENST00000413465,;TP53,frameshift_variant,p.Met237CysfsTer10,ENST00000420246,;TP53,frameshift_variant,p.Met237CysfsTer10,ENST00000269305,;TP53,frameshift_variant,p.Met105CysfsTer10,ENST00000509690,;TP53,frameshift_variant,p.Met237CysfsTer10,ENST00000359597,;TP53,frameshift_variant,p.Met144CysfsTer10,ENST00000514944,;TP53,frameshift_variant,p.Met237CysfsTer10,ENST00000445888,;TP53,frameshift_variant,p.Met237CysfsTer10,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	899	80	64	SUCCESS
UTS2R	2837	.	GRCh37	17	80332945	80332945	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1367894512	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	29	0	ENST00000313135.2:c.745G>C	p.Ala249Pro	p.A249P	ENST00000313135	NM_018949.1	249	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS11810.1	745	MUTECT|MUSE	.	AGCGGGCCCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF60,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00647	.	.	ENSP00000323516	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313135	Transcript	.	.	ENSG00000181408	4468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.2)	.	UR2R_HUMAN	UTS2R	HGNC	.	.	UPI000005046F	SNV	UTS2R,missense_variant,p.Ala249Pro,ENST00000313135,;	793	29	19	SUCCESS
LPIN2	9663	.	GRCh37	18	2920307	2920307	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	108	0	ENST00000261596.4:c.2675T>A	p.Leu892Gln	p.L892Q	ENST00000261596	NM_014646.2	892	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11829.1	2675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGTCC	NONE	.	.	hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11	.	.	ENSP00000261596	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000261596	Transcript	.	.	ENSG00000101577	14450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	tolerated(0.13)	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,missense_variant,p.Leu892Gln,ENST00000261596,;EMILIN2,downstream_gene_variant,,ENST00000254528,;RP11-737O24.5,upstream_gene_variant,,ENST00000608032,;	2914	108	126	SUCCESS
DCC	1630	.	GRCh37	18	49867089	49867089	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	67	0	ENST00000442544.2:c.-69T>C		p.*23*	ENST00000442544	NM_005215.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11952.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCGTGTGTG	NONE	.	.	.	.	.	ENSP00000389140	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,5_prime_UTR_variant,,ENST00000442544,;RP11-25O3.1,upstream_gene_variant,,ENST00000582700,;	548	67	59	SUCCESS
DCC	1630	.	GRCh37	18	50734122	50734122	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	68	0	ENST00000442544.2:c.1796T>A	p.Leu599Ter	p.L599*	ENST00000442544	NM_005215.3	599	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS11952.1	1796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTTAGCTT	BUFFER|p.S595S|c.1785T>C|3,BUFFER|p.R603C|c.1807C>T|4	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,stop_gained,p.Leu254Ter,ENST00000581580,;DCC,stop_gained,p.Leu599Ter,ENST00000442544,;DCC,stop_gained,p.Leu447Ter,ENST00000412726,;DCC,stop_gained,p.Leu533Ter,ENST00000304775,;	2412	68	88	SUCCESS
CCDC68	80323	.	GRCh37	18	52604189	52604189	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs1359135096	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	46	0	ENST00000337363.4:c.346C>A	p.Leu116Met	p.L116M	ENST00000337363	NM_001143829.1	116	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS11959.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAGCTAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF3	.	.	ENSP00000466690	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000591504	Transcript	.	.	ENSG00000166510	24350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.05)	.	CCD68_HUMAN	CCDC68	HGNC	.	.	UPI00000435F1	SNV	CCDC68,missense_variant,p.Leu116Met,ENST00000591504,;CCDC68,missense_variant,p.Leu116Met,ENST00000432185,;CCDC68,missense_variant,p.Leu116Met,ENST00000337363,;CCDC68,upstream_gene_variant,,ENST00000592040,;CCDC68,non_coding_transcript_exon_variant,,ENST00000592294,;CCDC68,downstream_gene_variant,,ENST00000589136,;CCDC68,downstream_gene_variant,,ENST00000587148,;	621	46	65	SUCCESS
LAMA1	284217	.	GRCh37	18	7026082	7026082	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	47	142	0	ENST00000389658.3:c.2298C>A	p.Gly766=	p.G766=	ENST00000389658	NM_005559.3	766	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32787.1	2298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACGCCGGT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000374309	.	17/63	.	.	.	.	.	.	.	.	.	17/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	2392	142	146	SUCCESS
ZNF236	7776	.	GRCh37	18	74672680	74672680	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	66	0	ENST00000253159.8:c.5282A>G	p.Gln1761Arg	p.Q1761R	ENST00000253159	NM_007345.3	1761	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS42447.1	5282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCAGAAGA	BUFFER|p.A1764V|c.5291C>T|5	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000253159	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000253159	Transcript	.	.	ENSG00000130856	13028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	ZN236_HUMAN	ZNF236	HGNC	.	.	UPI0000F6DCCB	SNV	ZNF236,missense_variant,p.Gln1763Arg,ENST00000320610,;ZNF236,missense_variant,p.Gln1761Arg,ENST00000253159,;ZNF236,3_prime_UTR_variant,,ENST00000543926,;	5480	66	104	SUCCESS
NDUFV2	4729	.	GRCh37	18	9102737	9102737	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs546451006	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	46	201	0	ENST00000318388.6:c.-5C>T		p.*2*	ENST00000318388	NM_021074.4			0	.	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS11842.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCGCCA	NONE	by1000G	.	.	A:0	.	ENSP00000327268	A:0	1/8	.	.	.	.	.	.	.	.	rs546451006	1/8	PASS	ENST00000318388	Transcript	.	A:0.0002	ENSG00000178127	7717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	NDUV2_HUMAN	NDUFV2	HGNC	.	.	UPI0000052A59	SNV	NDUFV2,5_prime_UTR_variant,,ENST00000318388,;NDUFV2,5_prime_UTR_variant,,ENST00000497577,;NDUFV2,upstream_gene_variant,,ENST00000400033,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000578850,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;NDUFV2,upstream_gene_variant,,ENST00000583375,;NDUFV2,5_prime_UTR_variant,,ENST00000577703,;	110	201	166	SUCCESS
YIPF2	78992	.	GRCh37	19	11039342	11039342	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	19	0	ENST00000253031.2:c.-112G>T		p.*38*	ENST00000253031	NM_024029.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12251.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACCTGAC	NONE	.	13	.	.	.	ENSP00000466055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000586748	Transcript	.	.	ENSG00000130733	28476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF2_HUMAN	YIPF2	HGNC	K7ERW0_HUMAN,K7EM92_HUMAN,K7EL70_HUMAN,K7EJN9_HUMAN	.	UPI00000729B3	SNV	YIPF2,5_prime_UTR_variant,,ENST00000253031,;YIPF2,upstream_gene_variant,,ENST00000589971,;YIPF2,upstream_gene_variant,,ENST00000588347,;YIPF2,upstream_gene_variant,,ENST00000587943,;YIPF2,upstream_gene_variant,,ENST00000585858,;YIPF2,upstream_gene_variant,,ENST00000586575,;YIPF2,upstream_gene_variant,,ENST00000590329,;C19orf52,upstream_gene_variant,,ENST00000270502,;YIPF2,upstream_gene_variant,,ENST00000586748,;YIPF2,upstream_gene_variant,,ENST00000592646,;C19orf52,upstream_gene_variant,,ENST00000593162,;YIPF2,upstream_gene_variant,,ENST00000592505,;YIPF2,upstream_gene_variant,,ENST00000588962,;C19orf52,upstream_gene_variant,,ENST00000588807,;	.	19	16	SUCCESS
ZNF99	7652	.	GRCh37	19	22940974	22940974	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs531461646	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	80	191	0	ENST00000596209.1:c.1737T>A	p.His579Gln	p.H579Q	ENST00000596209	NM_001080409.2	579	caT/caA	0	.	T:0	.	T:0	.	T	H/Q	protein_coding	YES	CCDS59369.1	1737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAGATGTGA	NONE	by1000G	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	T:0	.	ENSP00000472969	T:0.001	4/4	.	.	.	.	.	.	.	.	rs531461646	4/4	PASS	ENST00000596209	Transcript	.	T:0.0002	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	T:0	tolerated(0.54)	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.His488Gln,ENST00000397104,;ZNF99,missense_variant,p.His579Gln,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	1828	191	231	SUCCESS
ATP1A3	478	.	GRCh37	19	42498290	42498290	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	47	107	0	ENST00000302102.5:c.-62C>T		p.*21*	ENST00000302102	NM_152296.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58664.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGCTCAG	NONE	.	.	.	.	.	ENSP00000444688	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,5_prime_UTR_variant,,ENST00000545399,;ATP1A3,5_prime_UTR_variant,,ENST00000302102,;ATP1A3,intron_variant,,ENST00000473086,;ATP1A3,upstream_gene_variant,,ENST00000602133,;GRIK5,downstream_gene_variant,,ENST00000593562,;GRIK5,downstream_gene_variant,,ENST00000262895,;ATP1A3,upstream_gene_variant,,ENST00000543770,;ATP1A3,upstream_gene_variant,,ENST00000468774,;ATP1A3,5_prime_UTR_variant,,ENST00000441343,;GRIK5,downstream_gene_variant,,ENST00000454993,;	93	107	97	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48598746	48598746	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	68	0	ENST00000599921.1:c.684T>G	p.Pro228=	p.P228=	ENST00000599921		228	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS59403.1	714	RADIA|MUTECT|MUSE	.	CTCTCAGGGTG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF28,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000472546	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,synonymous_variant,p.%3D,ENST00000599921,;PLA2G4C,synonymous_variant,p.%3D,ENST00000413144,;PLA2G4C,synonymous_variant,p.%3D,ENST00000599111,;PLA2G4C,synonymous_variant,p.%3D,ENST00000354276,;PLA2G4C,synonymous_variant,p.%3D,ENST00000601946,;PLA2G4C,downstream_gene_variant,,ENST00000596352,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599239,;PLA2G4C,downstream_gene_variant,,ENST00000595899,;PLA2G4C,downstream_gene_variant,,ENST00000594156,;PLA2G4C,3_prime_UTR_variant,,ENST00000597713,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000598457,;PLA2G4C,downstream_gene_variant,,ENST00000599063,;PLA2G4C,downstream_gene_variant,,ENST00000595487,;PLA2G4C,upstream_gene_variant,,ENST00000598185,;PLA2G4C,downstream_gene_variant,,ENST00000597377,;	1016	68	87	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48598748	48598748	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	66	0	ENST00000599921.1:c.682C>T	p.Pro228Ser	p.P228S	ENST00000599921		228	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS59403.1	712	RADIA|MUTECT|MUSE	.	CTCAGGGTGAG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF28,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000472546	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.461)	.	tolerated(0.08)	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,missense_variant,p.Pro228Ser,ENST00000599921,;PLA2G4C,missense_variant,p.Pro228Ser,ENST00000413144,;PLA2G4C,missense_variant,p.Pro238Ser,ENST00000599111,;PLA2G4C,missense_variant,p.Pro228Ser,ENST00000354276,;PLA2G4C,missense_variant,p.Pro62Ser,ENST00000601946,;PLA2G4C,downstream_gene_variant,,ENST00000596352,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599239,;PLA2G4C,downstream_gene_variant,,ENST00000595899,;PLA2G4C,downstream_gene_variant,,ENST00000594156,;PLA2G4C,3_prime_UTR_variant,,ENST00000597713,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000598457,;PLA2G4C,downstream_gene_variant,,ENST00000599063,;PLA2G4C,downstream_gene_variant,,ENST00000595487,;PLA2G4C,upstream_gene_variant,,ENST00000598185,;PLA2G4C,downstream_gene_variant,,ENST00000597377,;	1014	66	85	SUCCESS
SPACA6P-AS	102238594	.	GRCh37	19	52196147	52196147	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	97	0	ENST00000602324.1:n.563C>A		p.*188*	ENST00000602324				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGGGGACC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000602324	Transcript	.	.	ENSG00000269959	49383	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPACA6P-AS	HGNC	.	.	.	SNV	SPACA6P-AS,non_coding_transcript_exon_variant,,ENST00000602324,;MIRLET7E,downstream_gene_variant,,ENST00000362102,;SPACA6P,upstream_gene_variant,,ENST00000576093,;SPACA6P,upstream_gene_variant,,ENST00000573266,;MIR99B,downstream_gene_variant,,ENST00000384819,;MIR125A,upstream_gene_variant,,ENST00000385273,;SPACA6P,upstream_gene_variant,,ENST00000574072,;SPACA6P,upstream_gene_variant,,ENST00000576494,;SPACA6P,upstream_gene_variant,,ENST00000571328,;AC018755.2,upstream_gene_variant,,ENST00000331594,;	563	97	75	SUCCESS
COL11A1	1301	.	GRCh37	1	103491838	103491838	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	33	115	0	ENST00000370096.3:c.831G>T	p.Glu277Asp	p.E277D	ENST00000370096	NM_001854.3	277	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS778.1	831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATACTCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	6/67	.	.	.	.	.	.	.	.	.	6/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Glu277Asp,ENST00000512756,;COL11A1,missense_variant,p.Glu277Asp,ENST00000370096,;COL11A1,intron_variant,,ENST00000353414,;COL11A1,intron_variant,,ENST00000427239,;COL11A1,intron_variant,,ENST00000358392,;COL11A1,downstream_gene_variant,,ENST00000447608,;	1144	115	107	SUCCESS
MAGI3	260425	.	GRCh37	1	114225757	114225757	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	81	181	0	ENST00000307546.9:c.3567A>C	p.Lys1189Asn	p.K1189N	ENST00000307546	NM_001142782.1	1189	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS44196.1	3567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAAAATGT	NONE	.	.	.	.	.	ENSP00000304604	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000307546	Transcript	.	.	ENSG00000081026	29647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.05)	.	MAGI3_HUMAN	MAGI3	HGNC	.	.	UPI00004589AE	SNV	MAGI3,missense_variant,p.Lys1189Asn,ENST00000307546,;MAGI3,3_prime_UTR_variant,,ENST00000369615,;MAGI3,downstream_gene_variant,,ENST00000369617,;MAGI3,downstream_gene_variant,,ENST00000369611,;	3642	181	217	SUCCESS
OLFML2B	25903	.	GRCh37	1	161953741	161953741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	299	225	73	1	ENST00000294794.3:c.1977G>T	p.Gln659His	p.Q659H	ENST00000294794	NM_015441.1	659	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1236.1	1977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCTGTGT	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000294794	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000294794	Transcript	.	.	ENSG00000162745	24558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.1)	.	OLM2B_HUMAN	OLFML2B	HGNC	H0YEW8_HUMAN,H0YE85_HUMAN	.	UPI00001D7DE0	SNV	OLFML2B,missense_variant,p.Gln660His,ENST00000367940,;OLFML2B,missense_variant,p.Gln659His,ENST00000294794,;OLFML2B,missense_variant,p.Gln142His,ENST00000367938,;OLFML2B,upstream_gene_variant,,ENST00000525589,;OLFML2B,upstream_gene_variant,,ENST00000533556,;	2401	74	524	SUCCESS
METTL11B	149281	.	GRCh37	1	170135847	170135847	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	118	0	ENST00000439373.2:c.540del	p.Phe181SerfsTer16	p.F181Sfs*16	ENST00000439373	NM_001136107.1	179	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS44275.1	535	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCACACCCCCC	NONE	.	.	hmmpanther:PTHR12753:SF2,hmmpanther:PTHR12753,Pfam_domain:PF05891,Gene3D:3.40.50.150,PIRSF_domain:PIRSF016958,Superfamily_domains:SSF53335	.	.	ENSP00000408058	.	3/4	.	.	.	.	.	.	.	.	COSM1336151	3/4	PASS	ENST00000439373	Transcript	.	.	ENSG00000203740	31932	5	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	NTM1B_HUMAN	METTL11B	HGNC	.	.	UPI0000418EF1	deletion	METTL11B,frameshift_variant,p.Phe181SerfsTer16,ENST00000439373,;METTL11B,non_coding_transcript_exon_variant,,ENST00000367764,;	642	118	128	SUCCESS
TNR	7143	.	GRCh37	1	175365900	175365900	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	38	87	0	ENST00000263525.2:c.1020G>C	p.Arg340Ser	p.R340S	ENST00000263525	NM_003285.2	340	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS1318.1	1020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGACCTGTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.41)	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Arg65Ser,ENST00000422274,;TNR,missense_variant,p.Arg340Ser,ENST00000367674,;TNR,missense_variant,p.Arg340Ser,ENST00000263525,;	1729	87	58	SUCCESS
TDRD5	163589	.	GRCh37	1	179631330	179631330	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	78	0	ENST00000294848.8:c.2252T>C	p.Met751Thr	p.M751T	ENST00000294848	NM_173533.3	751	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS55663.1	2414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATGGGAA	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.32)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Met751Thr,ENST00000367614,;TDRD5,missense_variant,p.Met261Thr,ENST00000417329,;TDRD5,missense_variant,p.Met805Thr,ENST00000444136,;TDRD5,missense_variant,p.Met751Thr,ENST00000294848,;	2664	78	83	SUCCESS
HMCN1	83872	.	GRCh37	1	186050420	186050420	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750532975	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	31	78	0	ENST00000271588.4:c.8681G>A	p.Cys2894Tyr	p.C2894Y	ENST00000271588	NM_031935.2	2894	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS30956.1	8681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGTTTAT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	56/107	.	.	.	.	.	.	.	.	rs750532975	56/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Cys2894Tyr,ENST00000367492,;HMCN1,missense_variant,p.Cys2894Tyr,ENST00000271588,;	8910	78	52	SUCCESS
FLVCR1	28982	.	GRCh37	1	213068556	213068556	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	70	163	0	ENST00000366971.4:c.1594-2A>G		p.X532_splice	ENST00000366971	NM_014053.3	532		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1510.1	.	RADIA|MUTECT|MUSE	.	TTTATAGATAC	NONE	.	.	.	.	.	ENSP00000355938	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366971	Transcript	.	.	ENSG00000162769	24682	.	.	HIGH	9/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FLVC1_HUMAN	FLVCR1	HGNC	.	.	UPI000006D3BB	SNV	FLVCR1,splice_acceptor_variant,,ENST00000419102,;FLVCR1,splice_acceptor_variant,,ENST00000366971,;FLVCR1,splice_acceptor_variant,,ENST00000483790,;	.	163	261	SUCCESS
NUP133	55746	.	GRCh37	1	229631723	229631723	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	26	0	ENST00000261396.3:c.891G>A	p.Trp297Ter	p.W297*	ENST00000261396	NM_018230.2	297	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS1579.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCCATTT	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,stop_gained,p.Trp281Ter,ENST00000537506,;NUP133,stop_gained,p.Trp297Ter,ENST00000261396,;NUP133,downstream_gene_variant,,ENST00000366678,;	983	26	44	SUCCESS
RYR2	6262	.	GRCh37	1	237753133	237753133	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	41	101	0	ENST00000366574.2:c.3639T>A	p.Gly1213=	p.G1213=	ENST00000366574	NM_001035.2	1213	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55691.1	3639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGTAGGAT	NONE	.	.	SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000355533	.	30/105	.	.	.	.	.	.	.	.	.	30/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	3956	102	124	SUCCESS
ARID1A	8289	.	GRCh37	1	27023908	27023908	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	9	0	ENST00000324856.7:c.1014G>A	p.Gly338=	p.G338=	ENST00000324856	NM_006015.4	338	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS285.1	1014	MUTECT|MUSE	.	TGGGGGGCTGC	CODON|p.A339fs*24|c.1015delG|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	1/20	.	.	.	.	.	.	.	.	COSM132997	1/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,synonymous_variant,p.%3D,ENST00000457599,;ARID1A,synonymous_variant,p.%3D,ENST00000324856,;RP5-968P14.2,upstream_gene_variant,,ENST00000569378,;	1385	9	9	SUCCESS
FAM46B	0	.	GRCh37	1	27339186	27339186	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	27	0	ENST00000289166.5:c.-25C>A		p.*9*	ENST00000289166	NM_052943.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS294.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGACGGCAGAA	NONE	.	.	.	.	.	ENSP00000289166	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000289166	Transcript	.	.	ENSG00000158246	28273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA46B_HUMAN	FAM46B	HGNC	.	.	UPI0000374A6A	SNV	FAM46B,5_prime_UTR_variant,,ENST00000289166,;	142	27	40	SUCCESS
CSMD2	114784	.	GRCh37	1	34089022	34089022	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	108	0	ENST00000241312.4:c.5550G>A	p.Leu1850=	p.L1850=	ENST00000241312		1850	ctG/ctA	0	.	.	.	.	.	T	L	nonsense_mediated_decay	YES	CCDS380.1	5550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCAGCGA	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	36/70	.	.	.	.	.	.	.	.	.	36/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,synonymous_variant,p.%3D,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373377,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	5579	108	111	SUCCESS
SCMH1	22955	.	GRCh37	1	41618413	41618413	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	35	0	ENST00000326197.7:c.-67C>T		p.X23_splice	ENST00000326197		23		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATGCTGGG	NONE	.	.	.	.	.	ENSP00000386079	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000402904	Transcript	.	.	ENSG00000010803	19003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCMH1_HUMAN	SCMH1	HGNC	.	.	UPI000006FD9B	SNV	SCMH1,splice_region_variant,,ENST00000397174,;SCMH1,splice_region_variant,,ENST00000326197,;SCMH1,splice_region_variant,,ENST00000402904,;SCMH1,intron_variant,,ENST00000372597,;SCMH1,intron_variant,,ENST00000361191,;SCMH1,intron_variant,,ENST00000361705,;SCMH1,intron_variant,,ENST00000372595,;SCMH1,intron_variant,,ENST00000456518,;SCMH1,intron_variant,,ENST00000337495,;SCMH1,intron_variant,,ENST00000372596,;SCMH1,intron_variant,,ENST00000397171,;	303	35	46	SUCCESS
NRD1	0	.	GRCh37	1	52303276	52303276	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	55	0	ENST00000354831.7:c.647T>G	p.Phe216Cys	p.F216C	ENST00000354831	NM_002525.2	216	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS559.1	647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAAACAGG	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108	.	.	ENSP00000346890	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated_low_confidence(0.23)	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,missense_variant,p.Phe216Cys,ENST00000354831,;NRD1,missense_variant,p.Phe84Cys,ENST00000539524,;NRD1,intron_variant,,ENST00000352171,;NRD1,intron_variant,,ENST00000544028,;MIR761,upstream_gene_variant,,ENST00000390787,;NRD1,intron_variant,,ENST00000485608,;NRD1,upstream_gene_variant,,ENST00000475715,;NRD1,downstream_gene_variant,,ENST00000491410,;NRD1,upstream_gene_variant,,ENST00000473805,;	837	55	82	SUCCESS
RP11-334A14.2	0	.	GRCh37	1	53459169	53459169	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	55	150	0	ENST00000414168.1:n.206A>G		p.*69*	ENST00000414168				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS572.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATAGATT	NONE	.	.	.	.	.	ENSP00000360569	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371514	Transcript	.	.	ENSG00000116171	10606	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLTP_HUMAN	SCP2	HGNC	.	.	UPI0000130258	SNV	SCP2,3_prime_UTR_variant,,ENST00000371513,;SCP2,intron_variant,,ENST00000371514,;SCP2,intron_variant,,ENST00000528311,;SCP2,intron_variant,,ENST00000371509,;SCP2,intron_variant,,ENST00000407246,;SCP2,3_prime_UTR_variant,,ENST00000478631,;RP11-334A14.2,non_coding_transcript_exon_variant,,ENST00000442174,;RP11-334A14.2,non_coding_transcript_exon_variant,,ENST00000414168,;TUBBP10,upstream_gene_variant,,ENST00000427668,;	.	150	141	SUCCESS
WDR78	0	.	GRCh37	1	67371059	67371059	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	72	0	ENST00000371026.3:c.171-1G>A		p.X57_splice	ENST00000371026	NM_024763.4	57		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS635.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCTATAT	NONE	.	.	.	.	.	ENSP00000360065	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371026	Transcript	.	.	ENSG00000152763	26252	.	.	HIGH	1/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR78_HUMAN	WDR78	HGNC	.	.	UPI00004561EF	SNV	WDR78,splice_acceptor_variant,,ENST00000488333,;WDR78,splice_acceptor_variant,,ENST00000371023,;WDR78,splice_acceptor_variant,,ENST00000431318,;WDR78,splice_acceptor_variant,,ENST00000371026,;WDR78,splice_acceptor_variant,,ENST00000371022,;WDR78,splice_acceptor_variant,,ENST00000532629,;WDR78,intron_variant,,ENST00000531980,;WDR78,upstream_gene_variant,,ENST00000491297,;	.	72	58	SUCCESS
HSPA12B	116835	.	GRCh37	20	3730781	3730781	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756031970	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	41	90	0	ENST00000254963.2:c.1208C>T	p.Ala403Val	p.A403V	ENST00000254963	NM_052970.4	403	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13061.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGCAGGGG	NONE	.	.	hmmpanther:PTHR14187:SF39,hmmpanther:PTHR14187,Superfamily_domains:SSF53067	.	.	ENSP00000254963	.	11/13	.	.	.	.	.	.	.	.	rs756031970	11/13	PASS	ENST00000254963	Transcript	.	.	ENSG00000132622	16193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.13)	.	HS12B_HUMAN	HSPA12B	HGNC	Q5JX83_HUMAN,B7ZLP2_HUMAN,B4DLR4_HUMAN	.	UPI00001285E5	SNV	HSPA12B,missense_variant,p.Ala237Val,ENST00000542646,;HSPA12B,missense_variant,p.Ala403Val,ENST00000254963,;HSPA12B,missense_variant,p.Ala317Val,ENST00000399701,;C20orf27,downstream_gene_variant,,ENST00000379772,;C20orf27,downstream_gene_variant,,ENST00000399672,;C20orf27,downstream_gene_variant,,ENST00000399683,;C20orf27,downstream_gene_variant,,ENST00000217195,;	1353	90	117	SUCCESS
RBCK1	10616	.	GRCh37	20	391373	391373	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	23	0	ENST00000356286.5:c.167+704T>A		p.*56*	ENST00000356286	NM_031229.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13000.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTTATGCA	NONE	.	.	.	.	.	ENSP00000348632	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356286	Transcript	1	.	ENSG00000125826	15864	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HOIL1_HUMAN	RBCK1	HGNC	Q5JWR1_HUMAN	.	UPI000006F045	SNV	RBCK1,3_prime_UTR_variant,,ENST00000400247,;RBCK1,3_prime_UTR_variant,,ENST00000475269,;RBCK1,intron_variant,,ENST00000382181,;RBCK1,intron_variant,,ENST00000414880,;RBCK1,intron_variant,,ENST00000441733,;RBCK1,intron_variant,,ENST00000353660,;RBCK1,intron_variant,,ENST00000356286,;RBCK1,intron_variant,,ENST00000411647,;RBCK1,non_coding_transcript_exon_variant,,ENST00000400245,;RBCK1,downstream_gene_variant,,ENST00000465226,;RBCK1,intron_variant,,ENST00000382214,;RBCK1,intron_variant,,ENST00000415942,;	.	23	17	SUCCESS
PTPRT	11122	.	GRCh37	20	41306596	41306596	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	89	0	ENST00000373198.4:c.1063G>T	p.Glu355Ter	p.E355*	ENST00000373198	NM_133170.3	355	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42874.1	1063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCAACAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000362283	.	7/31	.	.	.	.	.	.	.	.	.	7/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,stop_gained,p.Glu355Ter,ENST00000373201,;PTPRT,stop_gained,p.Glu355Ter,ENST00000356100,;PTPRT,stop_gained,p.Glu355Ter,ENST00000373198,;PTPRT,stop_gained,p.Glu355Ter,ENST00000373193,;PTPRT,stop_gained,p.Glu355Ter,ENST00000373184,;PTPRT,stop_gained,p.Glu355Ter,ENST00000373190,;PTPRT,stop_gained,p.Glu355Ter,ENST00000373187,;	1063	89	109	SUCCESS
MATN4	8785	.	GRCh37	20	43926651	43926651	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	93	0	ENST00000372754.1:c.1609G>T	p.Ala537Ser	p.A537S	ENST00000372754		537	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13348.1	1486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCGATCT	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,PROSITE_profiles:PS50234	.	.	ENSP00000440328	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000537548	Transcript	.	.	ENSG00000124159	6910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	MATN4_HUMAN	MATN4	HGNC	.	.	UPI000016054E	SNV	MATN4,missense_variant,p.Ala496Ser,ENST00000372756,;MATN4,missense_variant,p.Ala537Ser,ENST00000372754,;MATN4,missense_variant,p.Ala496Ser,ENST00000537548,;MATN4,missense_variant,p.Ala414Ser,ENST00000353917,;MATN4,missense_variant,p.Ala496Ser,ENST00000342716,;MATN4,missense_variant,p.Ala455Ser,ENST00000360607,;MATN4,missense_variant,p.Ala347Ser,ENST00000372751,;	1731	93	85	SUCCESS
PPP1R3D	5509	.	GRCh37	20	58514513	58514513	+	synonymous_variant	Silent	SNP	A	A	G	rs747322374	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	25	147	0	ENST00000370996.3:c.474T>C	p.Asp158=	p.D158=	ENST00000370996	NM_006242.3	158	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS13483.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAATCGGG	NONE	byFrequency	.	PIRSF_domain:PIRSF038207,hmmpanther:PTHR12307:SF11,hmmpanther:PTHR12307	.	.	ENSP00000360035	.	1/1	.	.	.	.	.	.	.	.	rs747322374	1/1	PASS	ENST00000370996	Transcript	.	.	ENSG00000132825	9294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3D_HUMAN	PPP1R3D	HGNC	.	.	UPI0000131FC4	SNV	PPP1R3D,synonymous_variant,p.%3D,ENST00000370996,;FAM217B,intron_variant,,ENST00000358293,;FAM217B,upstream_gene_variant,,ENST00000421092,;FAM217B,upstream_gene_variant,,ENST00000360816,;FAM217B,upstream_gene_variant,,ENST00000469084,;	840	147	135	SUCCESS
LAMA5	3911	.	GRCh37	20	60890252	60890252	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs775958777	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	23	0	ENST00000252999.3:c.7879A>C	p.Lys2627Gln	p.K2627Q	ENST00000252999	NM_005560.4	2627	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS33502.1	7879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTGCTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574	.	.	ENSP00000252999	.	59/80	.	.	.	.	.	.	.	.	rs775958777	59/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Lys2627Gln,ENST00000252999,;LAMA5,non_coding_transcript_exon_variant,,ENST00000471042,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000370691,;LAMA5,upstream_gene_variant,,ENST00000468786,;	7946	23	19	SUCCESS
IFNAR1	3454	.	GRCh37	21	34697310	34697310	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	99	0	ENST00000270139.3:c.-51G>A		p.*17*	ENST00000270139	NM_000629.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13624.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGGAGCTG	NONE	.	.	.	.	.	ENSP00000270139	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000270139	Transcript	.	.	ENSG00000142166	5432	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INAR1_HUMAN	IFNAR1	HGNC	B4DNT3_HUMAN	.	UPI000006FE3C	SNV	IFNAR1,5_prime_UTR_variant,,ENST00000442357,;IFNAR1,5_prime_UTR_variant,,ENST00000442071,;IFNAR1,5_prime_UTR_variant,,ENST00000270139,;IFNAR1,intron_variant,,ENST00000416947,;IFNAR1,intron_variant,,ENST00000493503,;	102	99	78	SUCCESS
DSCAM	1826	.	GRCh37	21	41385098	41385098	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746017443	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	46	85	0	ENST00000400454.1:c.5902G>A	p.Val1968Met	p.V1968M	ENST00000400454	NM_001271534.1	1968	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS42929.1	5902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGGCCC	BUFFER|p.A1967A|c.5901C>T|4	.	.	.	.	.	ENSP00000383303	.	33/33	.	.	.	.	.	.	.	.	rs746017443,COSM1414128	33/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.013)	.	deleterious_low_confidence(0.01)	0,1	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Val1702Met,ENST00000404019,;DSCAM,missense_variant,p.Val1968Met,ENST00000400454,;	6380	85	101	SUCCESS
PWP2	5822	.	GRCh37	21	45545890	45545890	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	59	0	ENST00000291576.7:c.1966-2A>T		p.X656_splice	ENST00000291576	NM_005049.2	656		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33579.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTAGGAAT	NONE	.	.	.	.	.	ENSP00000291576	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291576	Transcript	.	.	ENSG00000241945	9711	.	.	HIGH	15/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PWP2_HUMAN	PWP2	HGNC	.	.	UPI0000169D5D	SNV	PWP2,splice_acceptor_variant,,ENST00000291576,;PWP2,upstream_gene_variant,,ENST00000494310,;PWP2,non_coding_transcript_exon_variant,,ENST00000471490,;PWP2,upstream_gene_variant,,ENST00000476948,;	.	59	52	SUCCESS
C21orf58	54058	.	GRCh37	21	47734854	47734854	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	39	180	0	ENST00000291691.7:c.445-60G>T		p.*149*	ENST00000291691	NM_058180.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13735.1	.	RADIA|MUTECT|MUSE	.	AGAGGCACCCC	NONE	.	.	.	.	.	ENSP00000291691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291691	Transcript	.	.	ENSG00000160298	1300	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CU058_HUMAN	C21orf58	HGNC	H7C1T9_HUMAN	.	UPI0000231C71	SNV	C21orf58,missense_variant,p.Ala23Ser,ENST00000397679,;C21orf58,missense_variant,p.Ala23Ser,ENST00000445935,;C21orf58,missense_variant,p.Ala23Ser,ENST00000397682,;C21orf58,missense_variant,p.Ala23Ser,ENST00000397680,;C21orf58,missense_variant,p.Ala23Ser,ENST00000397683,;C21orf58,3_prime_UTR_variant,,ENST00000397685,;C21orf58,intron_variant,,ENST00000417060,;C21orf58,intron_variant,,ENST00000291691,;C21orf58,upstream_gene_variant,,ENST00000472607,;C21orf58,non_coding_transcript_exon_variant,,ENST00000475776,;C21orf58,intron_variant,,ENST00000491666,;	.	180	118	SUCCESS
TUBGCP6	85378	.	GRCh37	22	50656996	50656996	+	synonymous_variant	Silent	SNP	G	G	A	rs373718907	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	52	182	0	ENST00000248846.5:c.4875C>T	p.Ser1625=	p.S1625=	ENST00000248846		1625	agC/agT	0	A:0	A:0.0015	.	A:0	.	A	S	protein_coding	YES	CCDS14087.1	4875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCGCTGTA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32	A:0	A:0.0002	ENSP00000248846	A:0	22/25	.	.	.	.	.	.	.	.	rs373718907,COSM479107	22/25	PASS	ENST00000248846	Transcript	.	A:0.0004	ENSG00000128159	18127	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	GCP6_HUMAN	TUBGCP6	HGNC	.	.	UPI000013CC55	SNV	TUBGCP6,synonymous_variant,p.%3D,ENST00000425018,;TUBGCP6,synonymous_variant,p.%3D,ENST00000248846,;TUBGCP6,3_prime_UTR_variant,,ENST00000439308,;SELO,downstream_gene_variant,,ENST00000380903,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;	4980	182	132	SUCCESS
KCNH7	90134	.	GRCh37	2	163291972	163291972	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	56	115	0	ENST00000332142.5:c.1690C>A	p.His564Asn	p.H564N	ENST00000332142	NM_033272.3	564	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS2219.1	1690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGAGCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01463	.	.	ENSP00000331727	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000332142	Transcript	.	.	ENSG00000184611	18863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KCNH7_HUMAN	KCNH7	HGNC	.	.	UPI0000167D11	SNV	KCNH7,missense_variant,p.His564Asn,ENST00000332142,;KCNH7,missense_variant,p.His557Asn,ENST00000328032,;	1790	115	139	SUCCESS
KCNH7	90134	.	GRCh37	2	163291973	163291973	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	54	114	0	ENST00000332142.5:c.1689T>A	p.Ala563=	p.A563=	ENST00000332142	NM_033272.3	563	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2219.1	1689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGAGCAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01463	.	.	ENSP00000331727	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000332142	Transcript	.	.	ENSG00000184611	18863	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH7_HUMAN	KCNH7	HGNC	.	.	UPI0000167D11	SNV	KCNH7,synonymous_variant,p.%3D,ENST00000332142,;KCNH7,synonymous_variant,p.%3D,ENST00000328032,;	1789	114	135	SUCCESS
PDE11A	50940	.	GRCh37	2	178562092	178562092	+	synonymous_variant	Silent	SNP	T	T	G	rs781486307	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	44	0	ENST00000286063.6:c.2313A>C	p.Ser771=	p.S771=	ENST00000286063	NM_016953.3	771	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33334.1	2313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTGACTG	NONE	byFrequency	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000286063	.	15/20	.	.	.	.	.	.	.	.	rs781486307	15/20	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,synonymous_variant,p.%3D,ENST00000433879,;PDE11A,synonymous_variant,p.%3D,ENST00000358450,;PDE11A,synonymous_variant,p.%3D,ENST00000286063,;PDE11A,synonymous_variant,p.%3D,ENST00000389683,;PDE11A,synonymous_variant,p.%3D,ENST00000449286,;PDE11A,synonymous_variant,p.%3D,ENST00000409504,;AC012499.1,upstream_gene_variant,,ENST00000450227,;AC012499.1,upstream_gene_variant,,ENST00000412133,;PDE11A,non_coding_transcript_exon_variant,,ENST00000497003,;	2631	44	55	SUCCESS
DNAH7	56171	.	GRCh37	2	196709853	196709853	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1370270155	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	100	0	ENST00000312428.6:c.8818A>G	p.Arg2940Gly	p.R2940G	ENST00000312428	NM_018897.2	2940	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS42794.1	8818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTTCCTT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	47/65	.	.	.	.	.	.	.	.	.	47/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.13)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Arg2940Gly,ENST00000312428,;	8919	100	101	SUCCESS
FAM117B	150864	.	GRCh37	2	203630440	203630440	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	88	0	ENST00000392238.2:c.1723G>A	p.Ala575Thr	p.A575T	ENST00000392238		575	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33362.2	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAGCTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14972:SF6,hmmpanther:PTHR14972	.	.	ENSP00000376071	.	8/8	.	.	.	.	.	.	.	.	COSM1206036,COSM1206035	8/8	PASS	ENST00000392238	Transcript	.	.	ENSG00000138439	14440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	tolerated_low_confidence(0.49)	1,1	F117B_HUMAN	FAM117B	HGNC	.	.	UPI00015B3B88	SNV	FAM117B,missense_variant,p.Ala575Thr,ENST00000392238,;FAM117B,missense_variant,p.Ala331Thr,ENST00000303116,;	1723	88	113	SUCCESS
OBSL1	23363	.	GRCh37	2	220427162	220427162	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs535601955	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	97	0	ENST00000404537.1:c.2915T>C	p.Ile972Thr	p.I972T	ENST00000404537	NM_015311.2	972	aTt/aCt	0	.	G:0	.	G:0.0014	.	G	I/T	protein_coding	YES	CCDS46520.1	2915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCAATTTCA	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	G:0	.	ENSP00000385636	G:0	8/21	.	.	.	.	.	.	.	.	rs535601955	8/21	PASS	ENST00000404537	Transcript	.	G:0.0002	ENSG00000124006	29092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	G:0	tolerated(0.29)	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,missense_variant,p.Ile972Thr,ENST00000603926,;OBSL1,missense_variant,p.Ile559Thr,ENST00000289656,;OBSL1,missense_variant,p.Ile972Thr,ENST00000373876,;OBSL1,missense_variant,p.Ile25Thr,ENST00000604031,;OBSL1,missense_variant,p.Ile972Thr,ENST00000265318,;OBSL1,missense_variant,p.Ile972Thr,ENST00000404537,;OBSL1,missense_variant,p.Ile972Thr,ENST00000373873,;OBSL1,upstream_gene_variant,,ENST00000456147,;OBSL1,upstream_gene_variant,,ENST00000265317,;RP11-256I23.2,downstream_gene_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;	2972	97	65	SUCCESS
FAM124B	79843	.	GRCh37	2	225244883	225244883	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	93	0	ENST00000409685.3:c.775G>T	p.Gly259Ter	p.G259*	ENST00000409685	NM_001122779.1	259	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS46527.1	775	RADIA|MUTECT|MUSE	.	AGCTCCCAAGA	NONE	.	.	hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715	.	.	ENSP00000386895	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000409685	Transcript	.	.	ENSG00000124019	26224	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F124B_HUMAN	FAM124B	HGNC	.	.	UPI00002096DA	SNV	FAM124B,stop_gained,p.Gly259Ter,ENST00000409685,;FAM124B,3_prime_UTR_variant,,ENST00000389874,;	1041	93	83	SUCCESS
UGT1A6	54578	.	GRCh37	2	234681067	234681087	+	inframe_deletion	In_Frame_Del	DEL	CTTGGACGTGATTGGTTTCCT	CTTGGACGTGATTGGTTTCCT	-	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	CTTGGACGTGATTGGTTTCCT	CTTGGACGTGATTGGTTTCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	124	12	151	0	ENST00000305139.6:c.1466_1486del	p.Asp489_Leu495del	p.D489_L495del	ENST00000305139	NM_001072.3	487	tcCTTGGACGTGATTGGTTTCCTc/tcc	0	.	.	.	.	.	-	SLDVIGFL/S	protein_coding	YES	CCDS33405.1	1467-1487	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATTCCTTGGACGTGATTGGTTTCCTCTTGG	NONE	.	.	Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926,Transmembrane_helices:TMhelix	.	.	ENSP00000362508	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000373409	Transcript	.	.	ENSG00000244474	12536	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD14_HUMAN	UGT1A4	HGNC	Q8WX88_HUMAN,Q53QD2_HUMAN,B8K2E8_HUMAN	.	UPI0000001044	deletion	UGT1A4,inframe_deletion,p.Asp491_Leu497del,ENST00000373409,;UGT1A6,inframe_deletion,p.Asp489_Leu495del,ENST00000305139,;UGT1A3,inframe_deletion,p.Asp491_Leu497del,ENST00000482026,;UGT1A6,inframe_deletion,p.Asp222_Leu228del,ENST00000373424,;UGT1A8,inframe_deletion,p.Asp490_Leu496del,ENST00000608383,;UGT1A8,inframe_deletion,p.Asp491_Leu497del,ENST00000608381,;UGT1A7,inframe_deletion,p.Asp487_Leu493del,ENST00000373426,;UGT1A8,inframe_deletion,p.Asp487_Leu493del,ENST00000609637,;UGT1A8,inframe_deletion,p.Asp491_Leu497del,ENST00000609767,;UGT1A5,inframe_deletion,p.Asp491_Leu497del,ENST00000373414,;UGT1A1,inframe_deletion,p.Asp490_Leu496del,ENST00000305208,;UGT1A10,inframe_deletion,p.Asp487_Leu493del,ENST00000344644,;UGT1A8,inframe_deletion,p.Asp487_Leu493del,ENST00000373450,;UGT1A9,inframe_deletion,p.Asp487_Leu493del,ENST00000354728,;UGT1A10,downstream_gene_variant,,ENST00000373445,;MROH2A,upstream_gene_variant,,ENST00000454283,;UGT1A8,downstream_gene_variant,,ENST00000360418,;MROH2A,upstream_gene_variant,,ENST00000428446,;UGT1A6,downstream_gene_variant,,ENST00000406651,;MROH2A,upstream_gene_variant,,ENST00000430892,;UGT1A4,3_prime_UTR_variant,,ENST00000450233,;UGT1A6,downstream_gene_variant,,ENST00000446481,;	1510-1530	151	136	SUCCESS
DNMT3A	1788	.	GRCh37	2	25469632	25469632	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1036696061	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	55	0	ENST00000264709.3:c.1136G>A	p.Arg379His	p.R379H	ENST00000264709	NM_175629.2	379	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS33157.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGCGGCTG	NONE	.	.	hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Gene3D:1khcA02,Superfamily_domains:SSF63748	.	.	ENSP00000264709	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,missense_variant,p.Arg379His,ENST00000321117,;DNMT3A,missense_variant,p.Arg156His,ENST00000402667,;DNMT3A,missense_variant,p.Arg190His,ENST00000380746,;DNMT3A,missense_variant,p.Arg379His,ENST00000264709,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000470983,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000496570,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,missense_variant,p.Arg379His,ENST00000380756,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000474807,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000484184,;DNMT3A,upstream_gene_variant,,ENST00000466601,;	1474	55	48	SUCCESS
DNMT3A	1788	.	GRCh37	2	25497874	25497874	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	123	0	ENST00000264709.3:c.575C>A	p.Ala192Glu	p.A192E	ENST00000264709	NM_175629.2	192	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS33157.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCCTGG	NONE	.	.	hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068	.	.	ENSP00000264709	.	6/23	.	.	.	.	.	.	.	.	COSM1407120	6/23	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,missense_variant,p.Ala192Glu,ENST00000321117,;DNMT3A,missense_variant,p.Ala192Glu,ENST00000264709,;DNMT3A,missense_variant,p.Ala192Glu,ENST00000380756,;	913	123	106	SUCCESS
C2orf71	0	.	GRCh37	2	29293951	29293951	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	30	0	ENST00000331664.5:c.3177T>G	p.Pro1059=	p.P1059=	ENST00000331664	NM_001029883.2	1059	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS42669.1	3177	MUTECT|MUSE	.	GGGGGAGGGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,synonymous_variant,p.%3D,ENST00000331664,;	3177	30	37	SUCCESS
EFEMP1	2202	.	GRCh37	2	56103824	56103824	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	136	262	0	ENST00000355426.3:c.814C>T	p.Leu272Phe	p.L272F	ENST00000355426		272	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1857.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAGAATGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000378058	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.13)	.	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Leu272Phe,ENST00000355426,;EFEMP1,missense_variant,p.Leu272Phe,ENST00000394554,;EFEMP1,missense_variant,p.Leu272Phe,ENST00000394555,;EFEMP1,intron_variant,,ENST00000424836,;	1250	262	383	SUCCESS
ELMOD3	84173	.	GRCh37	2	85604561	85604561	+	synonymous_variant	Silent	SNP	G	G	A	rs371072018	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	37	0	ENST00000393852.4:c.702G>A	p.Ala234=	p.A234=	ENST00000393852	NM_001135023.1	234	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS1973.1	702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGCAGGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF2,hmmpanther:PTHR12771,Pfam_domain:PF04727	.	A:0.0002	ENSP00000318264	.	9/11	.	.	.	.	.	.	.	.	rs371072018	9/11	PASS	ENST00000315658	Transcript	.	.	ENSG00000115459	26158	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMD3_HUMAN	ELMOD3	HGNC	E9PI96_HUMAN,D3YTJ5_HUMAN,B8ZZT8_HUMAN	.	UPI0000072463	SNV	ELMOD3,synonymous_variant,p.%3D,ENST00000409344,;ELMOD3,synonymous_variant,p.%3D,ENST00000428955,;ELMOD3,synonymous_variant,p.%3D,ENST00000409013,;ELMOD3,synonymous_variant,p.%3D,ENST00000409890,;ELMOD3,synonymous_variant,p.%3D,ENST00000315658,;ELMOD3,synonymous_variant,p.%3D,ENST00000393852,;RNU7-162P,upstream_gene_variant,,ENST00000516669,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000496957,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000490508,;ELMOD3,synonymous_variant,p.%3D,ENST00000446464,;ELMOD3,synonymous_variant,p.%3D,ENST00000444108,;ELMOD3,3_prime_UTR_variant,,ENST00000429764,;ELMOD3,3_prime_UTR_variant,,ENST00000410106,;ELMOD3,3_prime_UTR_variant,,ENST00000414593,;ELMOD3,intron_variant,,ENST00000423095,;ELMOD3,downstream_gene_variant,,ENST00000488150,;	961	37	36	SUCCESS
RNF103	7844	.	GRCh37	2	86849812	86849812	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	68	143	0	ENST00000237455.4:c.198G>A	p.Lys66=	p.K66=	ENST00000237455	NM_005667.3	66	aaG/aaA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56128.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCTTCTT	NONE	.	.	.	.	.	ENSP00000474823	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000604011	Transcript	.	.	ENSG00000249884	38847	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNF103-CHMP3	HGNC	.	.	UPI00017A6DE0	SNV	RNF103-CHMP3,synonymous_variant,p.%3D,ENST00000440757,;RNF103,synonymous_variant,p.%3D,ENST00000237455,;CHMP3,intron_variant,,ENST00000439940,;RNF103-CHMP3,intron_variant,,ENST00000604011,;AC015971.2,downstream_gene_variant,,ENST00000426549,;AC015971.2,downstream_gene_variant,,ENST00000424788,;RNF103,non_coding_transcript_exon_variant,,ENST00000477307,;RNF103,non_coding_transcript_exon_variant,,ENST00000472680,;RNF103,non_coding_transcript_exon_variant,,ENST00000463333,;RNF103,non_coding_transcript_exon_variant,,ENST00000465629,;	.	143	149	SUCCESS
IGKV1-6	28943	.	GRCh37	2	89266227	89266227	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	60	90	1	ENST00000464162.1:c.31G>A	p.Gly11Arg	p.G11R	ENST00000464162		11	Ggg/Agg	0	.	.	.	.	.	T	G/R	IG_V_gene	YES	.	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCCAGGA	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000420361	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000464162	Transcript	.	.	ENSG00000239855	5742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	tolerated(0.07)	.	.	IGKV1-6	HGNC	.	.	UPI0000113B4D	SNV	IGKV1-6,missense_variant,p.Gly11Arg,ENST00000464162,;	60	91	161	SUCCESS
CD47	961	.	GRCh37	3	107798844	107798844	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs867558279	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	78	0	ENST00000361309.5:c.394C>T	p.Arg132Cys	p.R132C	ENST00000361309	NM_001777.3	132	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS43126.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACGATATT	NONE	.	.	hmmpanther:PTHR10613,hmmpanther:PTHR10613:SF0,Gene3D:2.60.40.10,Pfam_domain:PF08204	.	.	ENSP00000355361	.	2/11	.	.	.	.	.	.	.	.	COSM3584913	2/11	PASS	ENST00000361309	Transcript	.	.	ENSG00000196776	1682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.02)	1	CD47_HUMAN	CD47	HGNC	.	.	UPI0000049C6C	SNV	CD47,missense_variant,p.Arg132Cys,ENST00000361309,;CD47,missense_variant,p.Arg132Cys,ENST00000355354,;	500	78	110	SUCCESS
KIAA2018	0	.	GRCh37	3	113377134	113377134	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs752517275	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	54	0	ENST00000316407.4:c.3395T>C	p.Ile1132Thr	p.I1132T	ENST00000316407	NM_001009899.2	1132	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS43133.1	3395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTATATCA	NONE	byFrequency	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	rs752517275	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,missense_variant,p.Ile1132Thr,ENST00000478658,;KIAA2018,missense_variant,p.Ile1132Thr,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	3806	54	88	SUCCESS
PARP14	54625	.	GRCh37	3	122437678	122437678	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	5	117	0	ENST00000474629.2:c.4680G>C	p.Arg1560Ser	p.R1560S	ENST00000474629	NM_017554.2	1560	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS46894.1	4680	MUTECT|MUSE	.	GCAAGGAGAGA	NONE	.	.	PROSITE_profiles:PS50918,hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453,Pfam_domain:PF02825,Superfamily_domains:SSF117839	.	.	ENSP00000418194	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000474629	Transcript	.	.	ENSG00000173193	29232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.589)	.	deleterious(0.01)	.	PAR14_HUMAN	PARP14	HGNC	.	.	UPI00015A20AB	SNV	PARP14,missense_variant,p.Arg1560Ser,ENST00000474629,;PARP14,non_coding_transcript_exon_variant,,ENST00000475640,;PARP14,missense_variant,p.Arg1401Ser,ENST00000460683,;PARP14,non_coding_transcript_exon_variant,,ENST00000474669,;	4946	117	142	SUCCESS
TF	7018	.	GRCh37	3	133483097	133483120	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TGTCTTGGCAGAAAACTACAATAG	TGTCTTGGCAGAAAACTACAATAG	-	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	TGTCTTGGCAGAAAACTACAATAG	TGTCTTGGCAGAAAACTACAATAG	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	86	0	ENST00000402696.3:c.1276_1297+2del		p.X426_splice	ENST00000402696	NM_001063.3	426		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3080.1	1275-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGCCTGTCTTGGCAGAAAACTACAATAGTAAGT	NONE	.	.	.	.	.	ENSP00000385834	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	1	.	HIGH	10/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	deletion	TF,splice_donor_variant,,ENST00000402696,;TF,splice_donor_variant,,ENST00000264998,;TF,downstream_gene_variant,,ENST00000485977,;TF,upstream_gene_variant,,ENST00000461695,;TF,upstream_gene_variant,,ENST00000462495,;RP11-404G16.2,downstream_gene_variant,,ENST00000474389,;	1760-?	86	80	SUCCESS
CLSTN2	64084	.	GRCh37	3	140123535	140123535	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	52	123	0	ENST00000458420.3:c.564C>A	p.Cys188Ter	p.C188*	ENST00000458420	NM_022131.2	188	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS3112.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCTCCCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000402460	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,stop_gained,p.Cys188Ter,ENST00000458420,;AC092988.1,downstream_gene_variant,,ENST00000580582,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	754	123	128	SUCCESS
SI	6476	.	GRCh37	3	164727106	164727106	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	90	195	1	ENST00000264382.3:c.4140C>A	p.Asp1380Glu	p.D1380E	ENST00000264382	NM_001041.3	1380	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3196.1	4140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGTCCAC	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055	.	.	ENSP00000264382	.	35/48	.	.	.	.	.	.	.	.	.	35/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	tolerated(1)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Asp1380Glu,ENST00000264382,;	4203	196	234	SUCCESS
TNFSF10	8743	.	GRCh37	3	172241126	172241126	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11545817	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	92	0	ENST00000241261.2:c.49G>A	p.Val17Met	p.V17M	ENST00000241261	NM_003810.3	17	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3219.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCACGCAGG	BUFFER|p.I19I|c.57C>T|3	byFrequency	.	PIRSF_domain:PIRSF038013,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF27,Transmembrane_helices:TMhelix	.	.	ENSP00000241261	.	1/5	.	.	.	.	.	.	.	.	rs11545817	1/5	PASS	ENST00000241261	Transcript	.	.	ENSG00000121858	11925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	23658636,21814551	benign(0.046)	.	tolerated(0.23)	.	TNF10_HUMAN	TNFSF10	HGNC	Q6IBA9_HUMAN	.	UPI0000001629	SNV	TNFSF10,missense_variant,p.Val17Met,ENST00000241261,;TNFSF10,missense_variant,p.Val17Met,ENST00000420541,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000466777,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000472804,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000494851,;TNFSF10,upstream_gene_variant,,ENST00000430881,;AC007919.18,downstream_gene_variant,,ENST00000429380,;	172	92	104	SUCCESS
AHSG	197	.	GRCh37	3	186333556	186333556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	31	102	1	ENST00000411641.2:c.296G>T	p.Arg99Ile	p.R99I	ENST00000411641		99	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS3278.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGATGCA	NONE	.	.	PROSITE_profiles:PS51529,hmmpanther:PTHR13814:SF6,hmmpanther:PTHR13814,PROSITE_patterns:PS01254,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403	.	.	ENSP00000393887	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000411641	Transcript	.	.	ENSG00000145192	349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0)	.	FETUA_HUMAN	AHSG	HGNC	.	.	UPI000013D9D0	SNV	AHSG,missense_variant,p.Arg99Ile,ENST00000411641,;AHSG,missense_variant,p.Arg99Ile,ENST00000273784,;AHSG,non_coding_transcript_exon_variant,,ENST00000478441,;	515	103	116	SUCCESS
MUC4	4585	.	GRCh37	3	195474091	195474091	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772843001	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	66	321	1	ENST00000463781.3:c.16195G>A	p.Ala5399Thr	p.A5399T	ENST00000463781	NM_018406.6	5399	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS54700.1	16195	RADIA|SOMATICSNIPER|VARSCANS	.	CCTGGCCCCGG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	25/25	.	.	.	.	.	.	.	.	rs772843001	25/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Ala5399Thr,ENST00000463781,;MUC4,missense_variant,p.Ala1163Thr,ENST00000346145,;MUC4,missense_variant,p.Ala1112Thr,ENST00000349607,;MUC4,missense_variant,p.Ala5347Thr,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,non_coding_transcript_exon_variant,,ENST00000464234,;MUC4,downstream_gene_variant,,ENST00000469992,;MUC4,downstream_gene_variant,,ENST00000467235,;	16655	323	305	SUCCESS
C3orf35	339883	.	GRCh37	3	37476365	37476365	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	107	209	0	ENST00000328376.5:c.257G>T	p.Gly86Val	p.G86V	ENST00000328376	NM_178339.2	86	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43065.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGGACTG	NONE	.	.	.	.	.	ENSP00000331625	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000328376	Transcript	.	.	ENSG00000198590	24082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious_low_confidence(0)	.	APRG1_HUMAN	C3orf35	HGNC	.	.	UPI0000199616	SNV	C3orf35,missense_variant,p.Gly86Val,ENST00000328376,;C3orf35,non_coding_transcript_exon_variant,,ENST00000481400,;C3orf35,intron_variant,,ENST00000466204,;C3orf35,intron_variant,,ENST00000332506,;	1236	209	246	SUCCESS
SLC25A38	54977	.	GRCh37	3	39433406	39433406	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	100	0	ENST00000273158.4:c.519G>T	p.Gly173=	p.G173=	ENST00000273158	NM_017875.2	173	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2685.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGCACCG	NONE	.	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF107,PROSITE_profiles:PS50920	.	.	ENSP00000273158	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000273158	Transcript	.	.	ENSG00000144659	26054	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2538_HUMAN	SLC25A38	HGNC	.	.	UPI0000070F35	SNV	SLC25A38,synonymous_variant,p.%3D,ENST00000273158,;SLC25A38,downstream_gene_variant,,ENST00000431510,;	896	100	112	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913413	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	90	0	ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS2694.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CACTACCACAG	SITE|p.T41I|c.122C>T|94,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T41A|c.121A>G|828,CODON|p.T41S|c.121A>T|3,CODON|p.T41P|c.121A>C|6,CODON|p.T41S|c.122C>G|3,CODON|p.T41N|c.122C>A|7,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45P|c.133T>C|225,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913413,COSM5701,COSM5676,COSM5730	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.931)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ile,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	402	90	134	SUCCESS
TCAIM	285343	.	GRCh37	3	44437983	44437983	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	64	160	1	ENST00000342649.4:c.787G>T	p.Ala263Ser	p.A263S	ENST00000342649	NM_173826.3	263	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS2712.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGCAAAA	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	deleterious(0.03)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Ala263Ser,ENST00000342649,;TCAIM,missense_variant,p.Ala263Ser,ENST00000417237,;TCAIM,upstream_gene_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000417768,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;	1214	161	187	SUCCESS
MAP4	4134	.	GRCh37	3	47957487	47957487	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	29	0	ENST00000360240.6:c.1830G>T	p.Leu610=	p.L610=	ENST00000360240	NM_002375.4	610	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33750.1	1830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCAGAGA	NONE	.	.	hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF16	.	.	ENSP00000353375	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000360240	Transcript	.	.	ENSG00000047849	6862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP4_HUMAN	MAP4	HGNC	.	.	UPI000020A6A4	SNV	MAP4,synonymous_variant,p.%3D,ENST00000426837,;MAP4,synonymous_variant,p.%3D,ENST00000360240,;MAP4,synonymous_variant,p.%3D,ENST00000395734,;MAP4,intron_variant,,ENST00000383737,;MAP4,downstream_gene_variant,,ENST00000423088,;MAP4,intron_variant,,ENST00000482752,;	2349	29	46	SUCCESS
ATXN7	6314	.	GRCh37	3	63965668	63965668	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	38	99	2	ENST00000295900.6:c.577T>C	p.Ser193Pro	p.S193P	ENST00000295900	NM_000333.3	193	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS54603.1	577	RADIA|SOMATICSNIPER|VARSCANS	.	CTCTGTCCAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15117:SF2,hmmpanther:PTHR15117	.	.	ENSP00000381590	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000398590	Transcript	.	.	ENSG00000163635	10560	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.059)	.	tolerated(0.13)	.	ATX7_HUMAN	ATXN7	HGNC	Q9UPD8_HUMAN,Q8TEZ8_HUMAN,H0YAT6_HUMAN	.	UPI00001B07C4	SNV	ATXN7,missense_variant,p.Ser193Pro,ENST00000398590,;ATXN7,missense_variant,p.Ser193Pro,ENST00000295900,;ATXN7,missense_variant,p.Ser48Pro,ENST00000484332,;ATXN7,missense_variant,p.Ser193Pro,ENST00000487717,;ATXN7,missense_variant,p.Ser193Pro,ENST00000538065,;ATXN7,non_coding_transcript_exon_variant,,ENST00000488239,;ATXN7,non_coding_transcript_exon_variant,,ENST00000475897,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;ATXN7,upstream_gene_variant,,ENST00000466529,;ATXN7,upstream_gene_variant,,ENST00000472569,;	1130	101	125	SUCCESS
LRIT3	345193	.	GRCh37	4	110772897	110772897	+	synonymous_variant	Silent	SNP	T	T	A	rs1259545848	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	8	70	0	ENST00000594814.1:c.354T>A	p.Ala118=	p.A118=	ENST00000594814	NM_198506.4	118	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3688.3	354	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTGCTTT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF236,hmmpanther:PTHR24367,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000469759	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000594814	Transcript	1	.	ENSG00000183423	24783	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRIT3_HUMAN	LRIT3	HGNC	.	.	UPI0000F07E94	SNV	LRIT3,synonymous_variant,p.%3D,ENST00000379920,;LRIT3,synonymous_variant,p.%3D,ENST00000594814,;LRIT3,5_prime_UTR_variant,,ENST00000327908,;	354	70	86	SUCCESS
FRG1	2483	.	GRCh37	4	190878614	190878614	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	108	1	ENST00000226798.4:c.494T>C	p.Ile165Thr	p.I165T	ENST00000226798	NM_004477.2	165	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34121.1	494	RADIA|VARSCANS	.	GGACATAGAAG	NONE	.	.	hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Gene3D:2.80.10.50,Pfam_domain:PF06229,Superfamily_domains:SSF50405	.	.	ENSP00000226798	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000226798	Transcript	1	.	ENSG00000109536	3954	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.958)	.	deleterious(0.02)	.	FRG1_HUMAN	FRG1	HGNC	E9PRR7_HUMAN	.	UPI000012AC04	SNV	FRG1,missense_variant,p.Ile102Thr,ENST00000531991,;FRG1,missense_variant,p.Ile165Thr,ENST00000226798,;FRG1,missense_variant,p.Ile37Thr,ENST00000524583,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,downstream_gene_variant,,ENST00000533157,;FRG1,upstream_gene_variant,,ENST00000507103,;	716	109	131	SUCCESS
EVC2	132884	.	GRCh37	4	5630306	5630306	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	77	0	ENST00000344408.5:c.1866C>G	p.His622Gln	p.H622Q	ENST00000344408	NM_147127.4	622	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS3382.2	1866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGGTGAGT	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.43)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.His622Gln,ENST00000344938,;EVC2,missense_variant,p.His542Gln,ENST00000310917,;EVC2,missense_variant,p.His622Gln,ENST00000344408,;EVC2,missense_variant,p.His542Gln,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	1920	77	64	SUCCESS
LPHN3	0	.	GRCh37	4	62903534	62903534	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	10	131	0	ENST00000514591.1:c.3473C>A	p.Ser1158Tyr	p.S1158Y	ENST00000514591		1158	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS54768.1	3473	MUTECT|MUSE	.	AACATCTGGTT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02354,Superfamily_domains:SSF81321	.	.	ENSP00000422533	.	23/25	.	.	.	.	.	.	.	.	COSM367352,COSM367353,COSM367351	23/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.934)	.	deleterious(0)	1,1,1	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Ser1217Tyr,ENST00000507625,;LPHN3,missense_variant,p.Ser1158Tyr,ENST00000508946,;LPHN3,missense_variant,p.Ser1149Tyr,ENST00000506700,;LPHN3,missense_variant,p.Ser607Tyr,ENST00000502815,;LPHN3,missense_variant,p.Ser1226Tyr,ENST00000509896,;LPHN3,missense_variant,p.Ser1217Tyr,ENST00000511324,;LPHN3,missense_variant,p.Ser1158Tyr,ENST00000545650,;LPHN3,missense_variant,p.Ser1226Tyr,ENST00000506720,;LPHN3,missense_variant,p.Ser1158Tyr,ENST00000504896,;LPHN3,missense_variant,p.Ser1158Tyr,ENST00000514591,;LPHN3,missense_variant,p.Ser1226Tyr,ENST00000508693,;LPHN3,missense_variant,p.Ser1217Tyr,ENST00000506746,;LPHN3,missense_variant,p.Ser1149Tyr,ENST00000514996,;LPHN3,missense_variant,p.Ser1158Tyr,ENST00000512091,;LPHN3,missense_variant,p.Ser1149Tyr,ENST00000514157,;LPHN3,missense_variant,p.Ser1217Tyr,ENST00000507164,;	3802	131	170	SUCCESS
SLC4A4	8671	.	GRCh37	4	72423536	72423536	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	56	0	ENST00000264485.5:c.2871G>T	p.Gln957His	p.Q957H	ENST00000264485	NM_001098484.2	957	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS47071.1	2871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGTGTT	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834	.	.	ENSP00000393557	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000425175	Transcript	1	.	ENSG00000080493	11030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	S4A4_HUMAN	SLC4A4	HGNC	A5JJ20_HUMAN	.	UPI000152897D	SNV	SLC4A4,missense_variant,p.Gln913His,ENST00000340595,;SLC4A4,missense_variant,p.Gln957His,ENST00000425175,;SLC4A4,missense_variant,p.Gln957His,ENST00000264485,;SLC4A4,missense_variant,p.Gln873His,ENST00000351898,;	2988	56	98	SUCCESS
GRID2	2895	.	GRCh37	4	94145811	94145811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	89	0	ENST00000282020.4:c.1010C>A	p.Ala337Asp	p.A337D	ENST00000282020	NM_001510.2	337	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS3637.1	1010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGCTTTTC	NONE	.	.	hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000282020	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000282020	Transcript	1	.	ENSG00000152208	4576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	GRID2_HUMAN	GRID2	HGNC	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN	.	UPI00001AEA78	SNV	GRID2,missense_variant,p.Ala337Asp,ENST00000282020,;GRID2,missense_variant,p.Ala18Asp,ENST00000512631,;GRID2,missense_variant,p.Ala242Asp,ENST00000510992,;	1268	89	100	SUCCESS
SNCAIP	9627	.	GRCh37	5	121759396	121759396	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	28	0	ENST00000261368.8:c.964A>C	p.Ile322Leu	p.I322L	ENST00000261368	NM_005460.2	322	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS4131.1	964	MUTECT|MUSE	.	AAAGCATCTTG	NONE	.	.	hmmpanther:PTHR22882	.	.	ENSP00000261368	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000261368	Transcript	1	.	ENSG00000064692	11139	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.053)	.	deleterious(0.04)	.	SNCAP_HUMAN	SNCAIP	HGNC	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN	.	UPI000006D872	SNV	SNCAIP,missense_variant,p.Ile369Leu,ENST00000503116,;SNCAIP,missense_variant,p.Ile322Leu,ENST00000379536,;SNCAIP,missense_variant,p.Ile322Leu,ENST00000509154,;SNCAIP,missense_variant,p.Ile322Leu,ENST00000261368,;SNCAIP,missense_variant,p.Ile369Leu,ENST00000379533,;SNCAIP,missense_variant,p.Ile369Leu,ENST00000261367,;SNCAIP,intron_variant,,ENST00000504884,;SNCAIP,intron_variant,,ENST00000379538,;SNCAIP,intron_variant,,ENST00000542191,;SNCAIP,intron_variant,,ENST00000414317,;SNCAIP,downstream_gene_variant,,ENST00000508681,;SNCAIP,downstream_gene_variant,,ENST00000506272,;SNCAIP,downstream_gene_variant,,ENST00000514467,;SNCAIP,missense_variant,p.Ile369Leu,ENST00000395469,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000510003,;SNCAIP,intron_variant,,ENST00000508017,;SNCAIP,intron_variant,,ENST00000395466,;SNCAIP,intron_variant,,ENST00000512146,;SNCAIP,intron_variant,,ENST00000512385,;SNCAIP,intron_variant,,ENST00000510658,;SNCAIP,intron_variant,,ENST00000509023,;SNCAIP,intron_variant,,ENST00000515215,;	1226	28	41	SUCCESS
PCDHB1	29930	.	GRCh37	5	140432309	140432309	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	48	113	0	ENST00000306549.3:c.1254T>C	p.Tyr418=	p.Y418=	ENST00000306549	NM_013340.2	418	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS4243.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTATAATAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,synonymous_variant,p.%3D,ENST00000306549,;	1331	113	138	SUCCESS
SPINK5	11005	.	GRCh37	5	147505382	147505382	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	72	103	0	ENST00000256084.7:c.2836A>G	p.Thr946Ala	p.T946A	ENST00000256084	NM_006846.3	946	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47300.1	2926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATACAAAC	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Gene3D:1.10.1890.10,Pfam_domain:PF07648,SMART_domains:SM00280,Superfamily_domains:SSF100895	.	.	ENSP00000352936	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000359874	Transcript	1	.	ENSG00000133710	15464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.29)	.	ISK5_HUMAN	SPINK5	HGNC	.	.	UPI000020CF25	SNV	SPINK5,missense_variant,p.Thr946Ala,ENST00000256084,;SPINK5,missense_variant,p.Thr976Ala,ENST00000359874,;SPINK5,downstream_gene_variant,,ENST00000508733,;SPINK5,downstream_gene_variant,,ENST00000398454,;	2999	103	151	SUCCESS
NMUR2	56923	.	GRCh37	5	151771871	151771871	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	73	102	0	ENST00000255262.3:c.1129G>C	p.Asp377His	p.D377H	ENST00000255262	NM_020167.4	377	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS4321.1	1129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATCTTCGG	NONE	.	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Prints_domain:PR01567	.	.	ENSP00000255262	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.413)	.	tolerated(0.06)	.	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,missense_variant,p.Asp377His,ENST00000255262,;NMUR2,downstream_gene_variant,,ENST00000518933,;	1295	102	161	SUCCESS
HAVCR1	26762	.	GRCh37	5	156479645	156479645	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs181065847	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	104	0	ENST00000339252.3:c.400A>G	p.Ile134Val	p.I134V	ENST00000339252	NM_012206.2	134	Att/Gtt	0	.	C:0	.	C:0	.	C	I/V	protein_coding	YES	CCDS43392.1	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAATTGGAG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15498:SF8,hmmpanther:PTHR15498	C:0.001	.	ENSP00000344844	C:0	3/8	.	.	.	.	.	.	.	.	rs181065847	3/8	PASS	ENST00000339252	Transcript	.	C:0.0002	ENSG00000113249	17866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0	tolerated(0.51)	.	HAVR1_HUMAN	HAVCR1	HGNC	E5RIF6_HUMAN	.	UPI000006EEEC	SNV	HAVCR1,missense_variant,p.Ile134Val,ENST00000425854,;HAVCR1,missense_variant,p.Ile134Val,ENST00000339252,;HAVCR1,missense_variant,p.Ile134Val,ENST00000523175,;HAVCR1,missense_variant,p.Ile134Val,ENST00000544197,;HAVCR1,missense_variant,p.Ile134Val,ENST00000518745,;HAVCR1,missense_variant,p.Ile134Val,ENST00000522693,;HAVCR1,upstream_gene_variant,,ENST00000517644,;	933	104	102	SUCCESS
GABRA1	2554	.	GRCh37	5	161324165	161324165	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1424508480	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	106	169	0	ENST00000023897.6:c.1108C>A	p.Pro370Thr	p.P370T	ENST00000023897	NM_000806.5	370	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4357.1	1108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTCCAACA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112,Prints_domain:PR01614	.	.	ENSP00000393097	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.82)	.	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Pro370Thr,ENST00000444819,;GABRA1,missense_variant,p.Pro370Thr,ENST00000420560,;GABRA1,missense_variant,p.Pro370Thr,ENST00000393943,;GABRA1,missense_variant,p.Pro370Thr,ENST00000023897,;GABRA1,missense_variant,p.Pro370Thr,ENST00000437025,;GABRA1,missense_variant,p.Pro370Thr,ENST00000428797,;	1463	169	217	SUCCESS
GABRA1	2554	.	GRCh37	5	161324166	161324166	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	107	171	0	ENST00000023897.6:c.1109C>A	p.Pro370Gln	p.P370Q	ENST00000023897	NM_000806.5	370	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS4357.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCAACAG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112,Prints_domain:PR01614	.	.	ENSP00000393097	.	11/11	.	.	.	.	.	.	.	.	COSM3247916	11/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.031)	.	tolerated(0.59)	1	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Pro370Gln,ENST00000444819,;GABRA1,missense_variant,p.Pro370Gln,ENST00000420560,;GABRA1,missense_variant,p.Pro370Gln,ENST00000393943,;GABRA1,missense_variant,p.Pro370Gln,ENST00000023897,;GABRA1,missense_variant,p.Pro370Gln,ENST00000437025,;GABRA1,missense_variant,p.Pro370Gln,ENST00000428797,;	1464	171	221	SUCCESS
ZNF354B	117608	.	GRCh37	5	178310514	178310514	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs747697057	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	139	221	1	ENST00000322434.3:c.1061A>G	p.Tyr354Cys	p.Y354C	ENST00000322434	NM_058230.2	354	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4439.1	1061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTACTTAT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF87,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000327143	.	5/5	.	.	.	.	.	.	.	.	rs747697057	5/5	PASS	ENST00000322434	Transcript	.	.	ENSG00000178338	17197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0)	.	Z354B_HUMAN	ZNF354B	HGNC	E5RH89_HUMAN	.	UPI0000071A24	SNV	ZNF354B,missense_variant,p.Tyr354Cys,ENST00000322434,;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522624,;ZNF354B,upstream_gene_variant,,ENST00000522714,;	1287	222	319	SUCCESS
IRX1	79192	.	GRCh37	5	3601148	3601148	+	synonymous_variant	Silent	SNP	C	C	A	rs757318402	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	32	143	0	ENST00000302006.3:c.1437C>A	p.Ser479=	p.S479=	ENST00000302006	NM_024337.3	479	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34132.1	1437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCCGCCTG	NONE	byFrequency	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	4/4	.	.	.	.	.	.	.	.	rs757318402	4/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,synonymous_variant,p.%3D,ENST00000302006,;CTD-2012M11.3,upstream_gene_variant,,ENST00000559410,;	1489	143	127	SUCCESS
RAB3C	115827	.	GRCh37	5	57913469	57913469	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	91	113	0	ENST00000282878.4:c.25-1G>A		p.X9_splice	ENST00000282878	NM_138453.2	9		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3976.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGATGGC	NONE	.	.	.	.	.	ENSP00000282878	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282878	Transcript	.	.	ENSG00000152932	30269	.	.	HIGH	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB3C_HUMAN	RAB3C	HGNC	.	.	UPI0000133178	SNV	RAB3C,splice_acceptor_variant,,ENST00000282878,;RAB3C,splice_acceptor_variant,,ENST00000513316,;	.	113	207	SUCCESS
AK9	221264	.	GRCh37	6	109867191	109867191	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	114	158	0	ENST00000424296.2:c.3104A>T	p.Glu1035Val	p.E1035V	ENST00000424296	NM_001145128.2	1035	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS55048.1	3104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTCAGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,SMART_domains:SM00382	.	.	ENSP00000410186	.	26/41	.	.	.	.	.	.	.	.	.	26/41	PASS	ENST00000424296	Transcript	.	.	ENSG00000155085	33814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	deleterious(0.03)	.	KAD9_HUMAN	AK9	HGNC	E9PPU7_HUMAN,E9PPM3_HUMAN	.	UPI0001A48FC8	SNV	AK9,missense_variant,p.Glu114Val,ENST00000341338,;AK9,missense_variant,p.Glu1035Val,ENST00000424296,;AK9,missense_variant,p.Glu114Val,ENST00000355283,;AK9,upstream_gene_variant,,ENST00000491875,;AK9,downstream_gene_variant,,ENST00000466992,;	3181	158	243	SUCCESS
KPNA5	3841	.	GRCh37	6	117050772	117050772	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	95	120	1	ENST00000356348.1:c.1300A>T	p.Thr434Ser	p.T434S	ENST00000356348	NM_002269.2	434	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS5111.1	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGACTGTT	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10	.	.	ENSP00000357552	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000368564	Transcript	.	.	ENSG00000196911	6398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	tolerated(0.5)	.	IMA6_HUMAN	KPNA5	HGNC	Q5TD90_HUMAN	.	UPI000000DBE6	SNV	KPNA5,missense_variant,p.Thr17Ser,ENST00000392517,;KPNA5,missense_variant,p.Thr434Ser,ENST00000356348,;KPNA5,missense_variant,p.Thr434Ser,ENST00000368564,;	1448	121	177	SUCCESS
GPRC6A	222545	.	GRCh37	6	117113979	117113979	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1338337169	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	108	110	0	ENST00000310357.3:c.2107A>G	p.Arg703Gly	p.R703G	ENST00000310357	NM_148963.2	703	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS5112.1	2107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCTATAGA	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061,Pfam_domain:PF00003	.	.	ENSP00000309493	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0)	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,missense_variant,p.Arg703Gly,ENST00000310357,;GPRC6A,missense_variant,p.Arg632Gly,ENST00000368549,;GPRC6A,missense_variant,p.Arg528Gly,ENST00000530250,;	2129	110	208	SUCCESS
ARHGAP18	93663	.	GRCh37	6	129905182	129905182	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	34	61	0	ENST00000368149.2:c.1789G>A	p.Glu597Lys	p.E597K	ENST00000368149	NM_033515.2	597	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34535.1	1789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCAGTTA	NONE	.	.	hmmpanther:PTHR14963:SF6,hmmpanther:PTHR14963	.	.	ENSP00000357131	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000368149	Transcript	.	.	ENSG00000146376	21035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated(0.24)	.	RHG18_HUMAN	ARHGAP18	HGNC	.	.	UPI000020E208	SNV	ARHGAP18,missense_variant,p.Glu597Lys,ENST00000368149,;ARHGAP18,non_coding_transcript_exon_variant,,ENST00000483367,;ARHGAP18,non_coding_transcript_exon_variant,,ENST00000463225,;	1878	61	50	SUCCESS
ARID1B	57492	.	GRCh37	6	157100005	157100005	+	synonymous_variant	Silent	SNP	C	C	A	rs184815562	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	73	0	ENST00000346085.5:c.942C>A	p.Gly314=	p.G314=	ENST00000346085	NM_020732.3	314	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55072.1	942	MUTECT|MUSE	likely_benign	GGCGGCGGAGG	SITE|p.G314G|c.942C>A|3,SITE|p.G256G|c.768C>A|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	.	.	ENSP00000344546	.	1/20	.	.	.	.	.	.	.	.	rs184815562,COSM3781610,COSM3781609	1/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	.	.	.	0,1,1	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,upstream_gene_variant,,ENST00000414678,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;RP11-230C9.2,upstream_gene_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;	943	73	49	SUCCESS
NOTCH4	4855	.	GRCh37	6	32166815	32166815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	64	153	0	ENST00000375023.3:c.4423C>T	p.Arg1475Cys	p.R1475C	ENST00000375023	NM_004557.3	1475	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS34420.1	4423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCGTCGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24033,PIRSF_domain:PIRSF002279	.	.	ENSP00000364163	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Arg1475Cys,ENST00000375023,;NOTCH4,upstream_gene_variant,,ENST00000443903,;GPSM3,upstream_gene_variant,,ENST00000375043,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,upstream_gene_variant,,ENST00000491215,;	4562	153	168	SUCCESS
PXDC1	221749	.	GRCh37	6	3751739	3751739	+	synonymous_variant	Silent	SNP	C	C	A	rs369797402	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	116	0	ENST00000380283.4:c.27G>T	p.Thr9=	p.T9=	ENST00000380283	NM_183373.3	9	acG/acT	0	T:0	.	.	.	.	A	T	protein_coding	YES	CCDS4486.1	27	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGACGTGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31433	.	T:0.0001	ENSP00000369636	.	1/5	.	.	.	.	.	.	.	.	rs369797402	1/5	PASS	ENST00000380283	Transcript	.	.	ENSG00000168994	21361	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDC1_HUMAN	PXDC1	HGNC	.	.	UPI000013EB28	SNV	PXDC1,synonymous_variant,p.%3D,ENST00000380283,;RP11-420L9.5,non_coding_transcript_exon_variant,,ENST00000603791,;PXDC1,non_coding_transcript_exon_variant,,ENST00000477592,;PXDC1,non_coding_transcript_exon_variant,,ENST00000485986,;RP11-420L9.2,upstream_gene_variant,,ENST00000402155,;	522	116	100	SUCCESS
TBCC	6903	.	GRCh37	6	42713787	42713787	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs555582056	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	101	0	ENST00000372876.1:c.25G>T	p.Ala9Ser	p.A9S	ENST00000372876	NM_003192.2	9	Gct/Tct	0	.	G:0	.	G:0	.	A	A/S	protein_coding	YES	CCDS4872.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCAGCGG	NONE	by1000G	.	hmmpanther:PTHR15139	G:0	.	ENSP00000244625	G:0	2/2	.	.	.	.	.	.	.	.	rs555582056	2/2	PASS	ENST00000244625	Transcript	.	G:0.0002	ENSG00000124659	11580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	G:0.001	tolerated_low_confidence(0.16)	.	TBCC_HUMAN	TBCC	HGNC	.	.	UPI000013CB83	SNV	TBCC,missense_variant,p.Ala9Ser,ENST00000372876,;TBCC,missense_variant,p.Ala9Ser,ENST00000244625,;	589	101	78	SUCCESS
HSP90AB1	3326	.	GRCh37	6	44218166	44218166	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1252188086	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	77	248	0	ENST00000353801.3:c.787A>G	p.Lys263Glu	p.K263E	ENST00000353801	NM_001271969.1	263	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4909.1	787	RADIA|MUTECT|MUSE	.	GCGGTAAGGAT	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583	.	.	ENSP00000360609	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000371554	Transcript	.	.	ENSG00000096384	5258	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.48)	.	HS90B_HUMAN	HSP90AB1	HGNC	A8K3W9_HUMAN	.	UPI00001411EF	SNV	HSP90AB1,missense_variant,p.Lys263Glu,ENST00000371646,;HSP90AB1,missense_variant,p.Lys263Glu,ENST00000353801,;HSP90AB1,missense_variant,p.Lys263Glu,ENST00000371554,;SLC35B2,downstream_gene_variant,,ENST00000538577,;SLC35B2,downstream_gene_variant,,ENST00000537814,;SLC35B2,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000393812,;MIR4647,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	1001	248	236	SUCCESS
CDC5L	988	.	GRCh37	6	44355388	44355388	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs752909105	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	9	0	ENST00000371477.3:c.-173A>C		p.*58*	ENST00000371477	NM_001253.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4912.1	.	MUTECT|MUSE|VARSCANS	.	ACCCAATATCT	NONE	.	.	.	.	.	ENSP00000360532	.	1/16	.	.	.	.	.	.	.	.	rs752909105	1/16	PASS	ENST00000371477	Transcript	.	.	ENSG00000096401	1743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDC5L_HUMAN	CDC5L	HGNC	.	.	UPI000006EE42	SNV	CDC5L,5_prime_UTR_variant,,ENST00000371477,;	127	9	16	SUCCESS
TDRD6	221400	.	GRCh37	6	46656123	46656123	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	51	0	ENST00000316081.6:c.258G>T	p.Val86=	p.V86=	ENST00000316081	NM_001010870.2	86	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS34470.1	258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTGGTCAG	NONE	.	.	Superfamily_domains:SSF63748,SMART_domains:SM00333,Gene3D:2.30.30.140,Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,synonymous_variant,p.%3D,ENST00000316081,;TDRD6,synonymous_variant,p.%3D,ENST00000544460,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	258	51	70	SUCCESS
DEFB113	245927	.	GRCh37	6	49936539	49936539	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	37	0	ENST00000398718.1:c.100G>T	p.Glu34Ter	p.E34*	ENST00000398718	NM_001037729.1	34	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS43472.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCTCTTT	NONE	.	.	Pfam_domain:PF13841	.	.	ENSP00000381703	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398718	Transcript	.	.	ENSG00000214642	18094	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DB113_HUMAN	DEFB113	HGNC	.	.	UPI00005E4A72	SNV	DEFB113,stop_gained,p.Glu34Ter,ENST00000398718,;DEFB114,upstream_gene_variant,,ENST00000322066,;	100	37	83	SUCCESS
BMP6	654	.	GRCh37	6	7845445	7845445	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	7	116	0	ENST00000283147.6:c.737C>T	p.Pro246Leu	p.P246L	ENST00000283147	NM_001718.4	246	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4503.1	737	MUTECT|MUSE	.	GATTCCTGAGG	CODON|p.P246S|c.736C>T|3	.	.	hmmpanther:PTHR11848:SF137,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000283147	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000283147	Transcript	.	.	ENSG00000153162	1073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BMP6_HUMAN	BMP6	HGNC	B4DUF7_HUMAN	.	UPI0000126A2D	SNV	BMP6,missense_variant,p.Pro246Leu,ENST00000283147,;	896	116	169	SUCCESS
EEF1E1	9521	.	GRCh37	6	8090503	8090503	+	synonymous_variant	Silent	SNP	T	T	C	rs754252957	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	88	139	0	ENST00000379715.5:c.300A>G	p.Ser100=	p.S100=	ENST00000379715	NM_004280.4	100	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4507.1	300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATGAATT	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF143,hmmpanther:PTHR11260,Gene3D:1.20.1050.10,Pfam_domain:PF14497,Superfamily_domains:SSF47616	.	.	ENSP00000369038	.	3/4	.	.	.	.	.	.	.	.	rs754252957	3/4	PASS	ENST00000379715	Transcript	.	.	ENSG00000124802	3212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCA3_HUMAN	EEF1E1	HGNC	.	.	UPI000012ED5C	SNV	EEF1E1,synonymous_variant,p.%3D,ENST00000379715,;EEF1E1,synonymous_variant,p.%3D,ENST00000502429,;EEF1E1,synonymous_variant,p.%3D,ENST00000507463,;EEF1E1,synonymous_variant,p.%3D,ENST00000429723,;EEF1E1,3_prime_UTR_variant,,ENST00000515633,;EEF1E1-BLOC1S5,synonymous_variant,p.%3D,ENST00000397456,;	357	139	209	SUCCESS
RELN	5649	.	GRCh37	7	103363632	103363632	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	63	192	0	ENST00000428762.1:c.760A>G	p.Thr254Ala	p.T254A	ENST00000428762	NM_005045.3	254	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47680.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTGGTAA	NONE	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	8/65	.	.	.	.	.	.	.	.	.	8/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.28)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Thr254Ala,ENST00000424685,;RELN,missense_variant,p.Thr254Ala,ENST00000428762,;RELN,missense_variant,p.Thr254Ala,ENST00000343529,;	920	192	202	SUCCESS
HBP1	26959	.	GRCh37	7	106822886	106822886	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	10	104	0	ENST00000222574.4:c.238G>A	p.Asp80Asn	p.D80N	ENST00000222574	NM_012257.3	80	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS5741.1	238	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGATGTT	NONE	.	.	hmmpanther:PTHR15499:SF2,hmmpanther:PTHR15499	.	.	ENSP00000222574	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000222574	Transcript	.	.	ENSG00000105856	23200	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.11)	.	HBP1_HUMAN	HBP1	HGNC	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN	.	UPI000006DC04	SNV	HBP1,missense_variant,p.Asp80Asn,ENST00000468410,;HBP1,missense_variant,p.Asp80Asn,ENST00000464009,;HBP1,missense_variant,p.Asp80Asn,ENST00000222574,;HBP1,missense_variant,p.Asp80Asn,ENST00000479011,;HBP1,missense_variant,p.Asp72Asn,ENST00000498408,;HBP1,missense_variant,p.Asp80Asn,ENST00000485846,;HBP1,missense_variant,p.Asp80Asn,ENST00000497535,;HBP1,downstream_gene_variant,,ENST00000468401,;HBP1,downstream_gene_variant,,ENST00000478930,;HBP1,upstream_gene_variant,,ENST00000461963,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;	424	104	104	SUCCESS
TMEM140	55281	.	GRCh37	7	134849182	134849182	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	41	0	ENST00000275767.3:c.-12A>G		p.*4*	ENST00000275767	NM_018295.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5837.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGAGGGCA	NONE	.	.	.	.	.	ENSP00000275767	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000275767	Transcript	.	.	ENSG00000146859	21870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM140_HUMAN	TMEM140	HGNC	.	.	UPI000045760C	SNV	TMEM140,5_prime_UTR_variant,,ENST00000275767,;C7orf49,downstream_gene_variant,,ENST00000424142,;C7orf49,downstream_gene_variant,,ENST00000430372,;C7orf49,downstream_gene_variant,,ENST00000393114,;C7orf49,downstream_gene_variant,,ENST00000483029,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000477820,;C7orf49,downstream_gene_variant,,ENST00000472428,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;C7orf49,downstream_gene_variant,,ENST00000481410,;	212	41	70	SUCCESS
ZYX	7791	.	GRCh37	7	143080168	143080168	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	65	156	0	ENST00000322764.5:c.776C>A	p.Ser259Tyr	p.S259Y	ENST00000322764	NM_003461.4	259	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS5883.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCTCCGG	NONE	.	.	hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF1,Low_complexity_(Seg):seg	.	.	ENSP00000324422	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000322764	Transcript	.	.	ENSG00000159840	13200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.496)	.	tolerated(1)	.	ZYX_HUMAN	ZYX	HGNC	C9IZ41_HUMAN,B4DQX7_HUMAN	.	UPI00000424F2	SNV	ZYX,missense_variant,p.Ser102Tyr,ENST00000392910,;ZYX,missense_variant,p.Ser259Tyr,ENST00000322764,;ZYX,missense_variant,p.Ser227Tyr,ENST00000354434,;ZYX,missense_variant,p.Ser172Tyr,ENST00000449423,;ZYX,5_prime_UTR_variant,,ENST00000446634,;ZYX,downstream_gene_variant,,ENST00000449630,;ZYX,downstream_gene_variant,,ENST00000457235,;AC093673.5,upstream_gene_variant,,ENST00000429630,;ZYX,non_coding_transcript_exon_variant,,ENST00000477373,;ZYX,missense_variant,p.Ser76Tyr,ENST00000436448,;ZYX,non_coding_transcript_exon_variant,,ENST00000468083,;ZYX,upstream_gene_variant,,ENST00000497119,;	1121	156	116	SUCCESS
GIMAP1	170575	.	GRCh37	7	150417283	150417283	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142046758	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	98	0	ENST00000307194.5:c.191G>A	p.Arg64Lys	p.R64K	ENST00000307194	NM_130759.3	64	aGg/aAg	0	A:0.0034	A:0.003	.	A:0	.	A	R/K	protein_coding	YES	CCDS5906.1	191	RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGGCCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51720,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF46,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000302833	A:0	3/3	.	.	.	.	.	.	.	.	rs142046758	3/3	PASS	ENST00000307194	Transcript	.	A:0.0008	ENSG00000213203	23237	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.163)	A:0	tolerated(0.7)	.	GIMA1_HUMAN	GIMAP1	HGNC	.	.	UPI0000073C9B	SNV	GIMAP1,missense_variant,p.Arg64Lys,ENST00000307194,;GIMAP5,upstream_gene_variant,,ENST00000498181,;GIMAP1,downstream_gene_variant,,ENST00000464461,;	331	98	84	SUCCESS
MAD1L1	8379	.	GRCh37	7	1997344	1997344	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778331393	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	121	0	ENST00000265854.7:c.1516G>A	p.Glu506Lys	p.E506K	ENST00000265854		506	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43539.1	1516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGACCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0,Pfam_domain:PF05557,Superfamily_domains:0053432	.	.	ENSP00000385334	.	16/19	.	.	.	.	.	.	.	.	rs778331393	16/19	PASS	ENST00000406869	Transcript	.	.	ENSG00000002822	6762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	MD1L1_HUMAN	MAD1L1	HGNC	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN	.	UPI0000072C4D	SNV	MAD1L1,missense_variant,p.Glu506Lys,ENST00000406869,;MAD1L1,missense_variant,p.Glu414Lys,ENST00000402746,;MAD1L1,missense_variant,p.Glu57Lys,ENST00000450235,;MAD1L1,missense_variant,p.Glu506Lys,ENST00000265854,;MAD1L1,missense_variant,p.Glu506Lys,ENST00000399654,;MAD1L1,missense_variant,p.Glu173Lys,ENST00000438959,;	2074	121	87	SUCCESS
NFE2L3	9603	.	GRCh37	7	26224374	26224374	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	97	152	0	ENST00000056233.3:c.1056T>G	p.Pro352=	p.P352=	ENST00000056233	NM_004289.6	352	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5396.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTGAGCA	NONE	.	.	hmmpanther:PTHR24411:SF8,hmmpanther:PTHR24411	.	.	ENSP00000056233	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000056233	Transcript	.	.	ENSG00000050344	7783	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NF2L3_HUMAN	NFE2L3	HGNC	.	.	UPI000007206C	SNV	NFE2L3,synonymous_variant,p.%3D,ENST00000056233,;NFE2L3,downstream_gene_variant,,ENST00000607375,;NFE2L3,non_coding_transcript_exon_variant,,ENST00000606261,;	1315	152	216	SUCCESS
PSMA2	5683	.	GRCh37	7	42958857	42958857	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	36	0	ENST00000223321.4:c.531-1423C>T		p.*177*	ENST00000223321	NM_002787.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5467.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGCCACC	NONE	.	.	.	.	.	ENSP00000223321	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000223321	Transcript	.	.	ENSG00000106588	9531	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSA2_HUMAN	PSMA2	HGNC	Q6MZI6_HUMAN	.	UPI000004D00F	SNV	PSMA2,3_prime_UTR_variant,,ENST00000538645,;PSMA2,intron_variant,,ENST00000445517,;PSMA2,intron_variant,,ENST00000223321,;PSMA2,3_prime_UTR_variant,,ENST00000411875,;PSMA2,intron_variant,,ENST00000433579,;PSMA2,intron_variant,,ENST00000442788,;PSMA2,intron_variant,,ENST00000457444,;PSMA2,intron_variant,,ENST00000436986,;AC010132.11,non_coding_transcript_exon_variant,,ENST00000295493,;	.	36	34	SUCCESS
AP5Z1	9907	.	GRCh37	7	4827804	4827804	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs757374186	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	74	186	2	ENST00000348624.4:c.1474G>T	p.Glu492Ter	p.E492*	ENST00000348624	NM_014855.2	492	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47528.1	1474	RADIA|SOMATICSNIPER|VARSCANS	.	CATCCGAGAGG	NONE	byFrequency	.	hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Pfam_domain:PF14764	.	.	ENSP00000297562	.	12/17	.	.	.	.	.	.	.	.	rs757374186	12/17	PASS	ENST00000348624	Transcript	.	.	ENSG00000242802	22197	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP5Z1_HUMAN	AP5Z1	HGNC	A4D1Z4_HUMAN	.	UPI00003E5903	SNV	AP5Z1,stop_gained,p.Glu492Ter,ENST00000348624,;AP5Z1,stop_gained,p.Glu492Ter,ENST00000401897,;MIR4656,downstream_gene_variant,,ENST00000579503,;AP5Z1,upstream_gene_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477454,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,downstream_gene_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000469614,;	1568	188	166	SUCCESS
PCLO	27445	.	GRCh37	7	82764194	82764194	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	118	0	ENST00000333891.9:c.2672C>A	p.Thr891Lys	p.T891K	ENST00000333891	NM_033026.5	891	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS47630.1	2672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGTGGGG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Thr891Lys,ENST00000333891,;PCLO,missense_variant,p.Thr891Lys,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	3010	118	126	SUCCESS
STEAP2	261729	.	GRCh37	7	89856657	89856657	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	51	99	0	ENST00000287908.3:c.865A>T	p.Arg289Trp	p.R289W	ENST00000287908	NM_152999.3	289	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS5615.1	865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATAGGAGA	NONE	.	.	hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF6,Pfam_domain:PF01794	.	.	ENSP00000287908	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000287908	Transcript	.	.	ENSG00000157214	17885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	STEA2_HUMAN	STEAP2	HGNC	C9JLP2_HUMAN,C9JHX5_HUMAN	.	UPI000013DEE0	SNV	STEAP2,missense_variant,p.Arg289Trp,ENST00000394629,;STEAP2,missense_variant,p.Arg289Trp,ENST00000402625,;STEAP2,missense_variant,p.Arg289Trp,ENST00000394632,;STEAP2,missense_variant,p.Arg289Trp,ENST00000394621,;STEAP2,missense_variant,p.Arg289Trp,ENST00000394626,;STEAP2,missense_variant,p.Arg289Trp,ENST00000287908,;STEAP2,missense_variant,p.Arg289Trp,ENST00000394622,;STEAP2,downstream_gene_variant,,ENST00000428074,;STEAP2,downstream_gene_variant,,ENST00000426158,;STEAP2,downstream_gene_variant,,ENST00000482369,;	1258	99	143	SUCCESS
PEX1	5189	.	GRCh37	7	92134134	92134134	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	60	0	ENST00000248633.4:c.1983G>C	p.Leu661=	p.L661=	ENST00000248633	NM_000466.2	661	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5627.1	1983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCAGCAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00004,Gene3D:3.40.50.300,hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	.	.	ENSP00000248633	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000248633	Transcript	.	.	ENSG00000127980	8850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEX1_HUMAN	PEX1	HGNC	Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN	.	UPI0000001C39	SNV	PEX1,synonymous_variant,p.%3D,ENST00000248633,;PEX1,synonymous_variant,p.%3D,ENST00000541751,;PEX1,synonymous_variant,p.%3D,ENST00000438045,;PEX1,intron_variant,,ENST00000428214,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,downstream_gene_variant,,ENST00000422866,;PEX1,upstream_gene_variant,,ENST00000496092,;	2079	60	61	SUCCESS
ZNF394	84124	.	GRCh37	7	99096409	99096409	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	69	0	ENST00000337673.6:c.513C>T	p.Arg171=	p.R171=	ENST00000337673	NM_032164.2	171	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5666.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGCGCTC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3,Pfam_domain:PF01352,SMART_domains:SM00431,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000337363	.	2/3	.	.	.	.	.	.	.	.	COSM3675007	2/3	PASS	ENST00000337673	Transcript	.	.	ENSG00000160908	18832	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN394_HUMAN	ZNF394	HGNC	.	.	UPI000006F498	SNV	ZNF394,synonymous_variant,p.%3D,ENST00000337673,;ZNF789,intron_variant,,ENST00000493485,;ZNF394,intron_variant,,ENST00000426306,;ZNF394,non_coding_transcript_exon_variant,,ENST00000462024,;ZNF394,non_coding_transcript_exon_variant,,ENST00000394177,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,non_coding_transcript_exon_variant,,ENST00000485576,;ZNF394,non_coding_transcript_exon_variant,,ENST00000464401,;ZNF394,non_coding_transcript_exon_variant,,ENST00000481881,;	717	69	77	SUCCESS
CSMD3	114788	.	GRCh37	8	113694807	113694807	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	115	101	0	ENST00000297405.5:c.2541G>T	p.Gly847=	p.G847=	ENST00000297405	NM_198123.1	847	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6315.1	2541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCCCAAA	NONE	.	.	PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	16/71	.	.	.	.	.	.	.	.	.	16/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	2786	101	182	SUCCESS
COLEC10	10584	.	GRCh37	8	120103443	120103443	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	290	77	168	0	ENST00000332843.2:c.276G>T	p.Gly92=	p.G92=	ENST00000332843	NM_006438.3	92	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6327.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGCCCAT	NONE	.	.	hmmpanther:PTHR24024:SF17,hmmpanther:PTHR24024,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000332723	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000332843	Transcript	.	.	ENSG00000184374	2220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COL10_HUMAN	COLEC10	HGNC	.	.	UPI00001B01DD	SNV	COLEC10,synonymous_variant,p.%3D,ENST00000332843,;COLEC10,non_coding_transcript_exon_variant,,ENST00000521788,;	317	168	367	SUCCESS
FER1L6	654463	.	GRCh37	8	125083748	125083748	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	8	44	0	ENST00000399018.1:c.3968G>T	p.Gly1323Val	p.G1323V	ENST00000399018		1323	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43767.1	3968	MUTECT|MUSE	.	CCAGGGCTCCT	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	31/41	.	.	.	.	.	.	.	.	.	31/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Gly1323Val,ENST00000522917,;FER1L6,missense_variant,p.Gly1323Val,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	4174	44	117	SUCCESS
SCRIB	23513	.	GRCh37	8	144895116	144895116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754579272	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	8	114	0	ENST00000320476.3:c.658C>T	p.Arg220Trp	p.R220W	ENST00000320476	NM_015356.4	220	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6412.1	658	MUTECT|MUSE	.	GCGCCGCAGGT	NONE	byFrequency	.	hmmpanther:PTHR23155:SF412,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF12799,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058	.	.	ENSP00000349486	.	8/37	.	.	.	.	.	.	.	.	rs754579272	8/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Arg139Trp,ENST00000377533,;SCRIB,missense_variant,p.Arg220Trp,ENST00000356994,;SCRIB,missense_variant,p.Arg220Trp,ENST00000320476,;PUF60,downstream_gene_variant,,ENST00000349157,;PUF60,downstream_gene_variant,,ENST00000313352,;PUF60,downstream_gene_variant,,ENST00000527197,;PUF60,downstream_gene_variant,,ENST00000526683,;PUF60,downstream_gene_variant,,ENST00000453551,;PUF60,downstream_gene_variant,,ENST00000456095,;SCRIB,upstream_gene_variant,,ENST00000531942,;PUF60,downstream_gene_variant,,ENST00000532884,;PUF60,downstream_gene_variant,,ENST00000527744,;PUF60,downstream_gene_variant,,ENST00000526459,;MIR937,downstream_gene_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000531951,;PUF60,downstream_gene_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000528320,;	665	114	189	SUCCESS
ADAM28	10863	.	GRCh37	8	24181394	24181394	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	79	0	ENST00000265769.4:c.768C>A	p.Ile256=	p.I256=	ENST00000265769	NM_014265.4	256	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34865.1	768	MUTECT|MUSE|VARSCANS	.	GAAATCTGGAC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000265769	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,synonymous_variant,p.%3D,ENST00000437154,;ADAM28,synonymous_variant,p.%3D,ENST00000397649,;ADAM28,synonymous_variant,p.%3D,ENST00000540823,;ADAM28,synonymous_variant,p.%3D,ENST00000265769,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,non_coding_transcript_exon_variant,,ENST00000518516,;ADAM28,upstream_gene_variant,,ENST00000521110,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;	878	79	80	SUCCESS
PRKDC	5591	.	GRCh37	8	48843321	48843321	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	39	112	0	ENST00000314191.2:c.1803G>T	p.Trp601Cys	p.W601C	ENST00000314191	NM_006904.6	601	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	.	1803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATCCAAAC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	17/87	.	.	.	.	.	.	.	.	.	17/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Trp601Cys,ENST00000338368,;PRKDC,missense_variant,p.Trp601Cys,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000541488,;	1860	112	120	SUCCESS
IMPA1	3612	.	GRCh37	8	82583199	82583199	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	388	87	242	0	ENST00000256108.5:c.541A>C	p.Lys181Gln	p.K181Q	ENST00000256108	NM_005536.3	181	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS47883.1	718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTTTTCCA	NONE	.	.	hmmpanther:PTHR20854:SF26,hmmpanther:PTHR20854,Pfam_domain:PF00459,Gene3D:3.40.190.80,Superfamily_domains:SSF56655	.	.	ENSP00000408526	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000449740	Transcript	.	.	ENSG00000133731	6050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	tolerated(0.09)	.	IMPA1_HUMAN	IMPA1	HGNC	E5RGY4_HUMAN,E5RG94_HUMAN	.	UPI000192950E	SNV	IMPA1,missense_variant,p.Lys206Gln,ENST00000523942,;IMPA1,missense_variant,p.Lys146Gln,ENST00000521360,;IMPA1,missense_variant,p.Lys240Gln,ENST00000449740,;IMPA1,missense_variant,p.Lys181Gln,ENST00000256108,;IMPA1,missense_variant,p.Lys173Gln,ENST00000519964,;IMPA1,intron_variant,,ENST00000311489,;IMPA1,downstream_gene_variant,,ENST00000518202,;IMPA1,downstream_gene_variant,,ENST00000522997,;IMPA1,non_coding_transcript_exon_variant,,ENST00000523710,;IMPA1,3_prime_UTR_variant,,ENST00000518188,;IMPA1,downstream_gene_variant,,ENST00000519816,;IMPA1,downstream_gene_variant,,ENST00000520065,;IMPA1,downstream_gene_variant,,ENST00000521979,;	798	242	476	SUCCESS
RBM18	92400	.	GRCh37	9	125023740	125023740	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	50	110	0	ENST00000417201.3:c.32A>G	p.Glu11Gly	p.E11G	ENST00000417201	NM_033117.3	11	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS6839.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTCCAGG	NONE	.	.	hmmpanther:PTHR21245	.	.	ENSP00000409315	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000417201	Transcript	.	.	ENSG00000119446	28413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.324)	.	deleterious(0.04)	.	RBM18_HUMAN	RBM18	HGNC	.	.	UPI0000046802	SNV	RBM18,missense_variant,p.Glu11Gly,ENST00000417201,;MRRF,upstream_gene_variant,,ENST00000373730,;MRRF,upstream_gene_variant,,ENST00000546115,;MRRF,upstream_gene_variant,,ENST00000373723,;MRRF,upstream_gene_variant,,ENST00000344641,;MRRF,upstream_gene_variant,,ENST00000373729,;MRRF,upstream_gene_variant,,ENST00000441707,;MRRF,upstream_gene_variant,,ENST00000297908,;RBM18,non_coding_transcript_exon_variant,,ENST00000483428,;MRRF,upstream_gene_variant,,ENST00000373724,;MRRF,upstream_gene_variant,,ENST00000470366,;MRRF,upstream_gene_variant,,ENST00000373728,;MRRF,upstream_gene_variant,,ENST00000373727,;	173	110	74	SUCCESS
SPINK4	27290	.	GRCh37	9	33246666	33246666	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	48	0	ENST00000379721.3:c.155T>C	p.Leu52Pro	p.L52P	ENST00000379721	NM_014471.1	52	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS6536.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGGTCT	NONE	.	.	Superfamily_domains:SSF100895,SMART_domains:SM00280,Gene3D:3.30.60.30,Pfam_domain:PF00050,PROSITE_patterns:PS00282,hmmpanther:PTHR21179,PROSITE_profiles:PS51465	.	.	ENSP00000369045	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000379721	Transcript	.	.	ENSG00000122711	16646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.51)	.	ISK4_HUMAN	SPINK4	HGNC	.	.	UPI000012D8F5	SNV	SPINK4,missense_variant,p.Leu52Pro,ENST00000379721,;SPINK4,missense_variant,p.Leu75Pro,ENST00000379725,;SPINK4,missense_variant,p.Leu75Pro,ENST00000379723,;BAG1,downstream_gene_variant,,ENST00000493917,;	200	48	41	SUCCESS
NPR2	4882	.	GRCh37	9	35792605	35792605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	70	0	ENST00000342694.2:c.200T>C	p.Val67Ala	p.V67A	ENST00000342694	NM_003995.3	67	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6590.1	200	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGTCAGCT	NONE	.	.	hmmpanther:PTHR11920:SF231,hmmpanther:PTHR11920,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000341083	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000342694	Transcript	.	.	ENSG00000159899	7944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.77)	.	ANPRB_HUMAN	NPR2	HGNC	.	.	UPI0000125B42	SNV	NPR2,missense_variant,p.Val67Ala,ENST00000342694,;RP11-112J3.16,downstream_gene_variant,,ENST00000431981,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;	455	70	48	SUCCESS
KIF27	55582	.	GRCh37	9	86452226	86452226	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs140117578	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	55	162	0	ENST00000297814.2:c.3896T>C	p.Ile1299Thr	p.I1299T	ENST00000297814	NM_017576.2	1299	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6665.1	3896	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CTGGGATATCT	NONE	byCluster	.	.	.	.	ENSP00000297814	.	18/18	.	.	.	.	.	.	.	.	rs140117578	18/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.044)	.	tolerated_low_confidence(0.18)	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,missense_variant,p.Ile1233Thr,ENST00000413982,;KIF27,missense_variant,p.Ile1202Thr,ENST00000334204,;KIF27,missense_variant,p.Ile1299Thr,ENST00000297814,;RP11-575L7.4,intron_variant,,ENST00000591217,;RP11-575L7.2,intron_variant,,ENST00000412069,;RP11-575L7.2,intron_variant,,ENST00000439378,;RP11-575L7.2,intron_variant,,ENST00000458016,;RP11-575L7.2,intron_variant,,ENST00000417672,;	4040	162	96	SUCCESS
SNORA56	677835	.	GRCh37	X	154003365	154003365	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	31	45	0	ENST00000383966.1:n.93A>T		p.*31*	ENST00000383966	NR_002984.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14761.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCAGTATT	NONE	.	.	.	.	.	ENSP00000358563	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369550	Transcript	.	.	ENSG00000130826	2890	.	.	MODIFIER	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DKC1_HUMAN	DKC1	HGNC	.	.	UPI00000325ED	SNV	DKC1,intron_variant,,ENST00000369550,;MPP1,downstream_gene_variant,,ENST00000393531,;MPP1,downstream_gene_variant,,ENST00000413259,;MPP1,downstream_gene_variant,,ENST00000369534,;SNORA56,non_coding_transcript_exon_variant,,ENST00000383966,;DKC1,intron_variant,,ENST00000475966,;DKC1,upstream_gene_variant,,ENST00000492372,;DKC1,non_coding_transcript_exon_variant,,ENST00000481062,;DKC1,intron_variant,,ENST00000412124,;DKC1,intron_variant,,ENST00000426673,;MPP1,downstream_gene_variant,,ENST00000439370,;MPP1,downstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000491955,;DKC1,downstream_gene_variant,,ENST00000484317,;	.	45	40	SUCCESS
ARX	170302	.	GRCh37	X	25022795	25022795	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	51	79	0	ENST00000379044.4:c.1681G>T	p.Val561Leu	p.V561L	ENST00000379044	NM_139058.2	561	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS14215.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACCTCCT	NONE	.	.	.	.	.	ENSP00000368332	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000379044	Transcript	.	.	ENSG00000004848	18060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.09)	.	ARX_HUMAN	ARX	HGNC	.	.	UPI00001260CA	SNV	ARX,missense_variant,p.Val561Leu,ENST00000379044,;	1892	79	61	SUCCESS
NR0B1	190	.	GRCh37	X	30327147	30327147	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780289680	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	9	122	0	ENST00000378970.4:c.334G>A	p.Asp112Asn	p.D112N	ENST00000378970	NM_000475.4	112	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS14223.1	334	MUTECT|MUSE|VARSCANS	.	GGGATCAGAGC	NONE	byFrequency	.	Pfam_domain:PF14046,hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF1	.	.	ENSP00000368253	.	1/2	.	.	.	.	.	.	.	.	rs780289680	1/2	PASS	ENST00000378970	Transcript	.	.	ENSG00000169297	7960	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.124)	.	deleterious_low_confidence(0)	.	NR0B1_HUMAN	NR0B1	HGNC	F1D8P4_HUMAN	.	UPI0000128ED4	SNV	NR0B1,missense_variant,p.Asp112Asn,ENST00000453287,;NR0B1,missense_variant,p.Asp112Asn,ENST00000378970,;NR0B1,upstream_gene_variant,,ENST00000378963,;	569	122	106	SUCCESS
WDR45	11152	.	GRCh37	X	48932926	48932926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	63	131	0	ENST00000376372.3:c.842G>T	p.Gly281Val	p.G281V	ENST00000376372	NM_001029896.1	281	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14318.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCCACG	NONE	.	.	hmmpanther:PTHR11227:SF26,hmmpanther:PTHR11227	.	.	ENSP00000348848	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000356463	Transcript	.	.	ENSG00000196998	28912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.591)	.	deleterious(0.03)	.	WIPI4_HUMAN	WDR45	HGNC	C9J7Q8_HUMAN	.	UPI000035B01F	SNV	WDR45,missense_variant,p.Gly208Val,ENST00000367375,;WDR45,missense_variant,p.Gly292Val,ENST00000322995,;WDR45,missense_variant,p.Gly6Val,ENST00000486337,;WDR45,missense_variant,p.Gly267Val,ENST00000396681,;WDR45,missense_variant,p.Gly281Val,ENST00000376372,;WDR45,missense_variant,p.Gly246Val,ENST00000485908,;WDR45,missense_variant,p.Gly282Val,ENST00000356463,;WDR45,missense_variant,p.Gly282Val,ENST00000376368,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000475977,;WDR45,intron_variant,,ENST00000473974,;WDR45,intron_variant,,ENST00000553851,;WDR45,downstream_gene_variant,,ENST00000419567,;WDR45,downstream_gene_variant,,ENST00000476728,;WDR45,downstream_gene_variant,,ENST00000465382,;PRAF2,upstream_gene_variant,,ENST00000376390,;WDR45,downstream_gene_variant,,ENST00000474053,;WDR45,downstream_gene_variant,,ENST00000423215,;WDR45,downstream_gene_variant,,ENST00000471338,;PRAF2,upstream_gene_variant,,ENST00000376386,;WDR45,downstream_gene_variant,,ENST00000475880,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,downstream_gene_variant,,ENST00000465431,;WDR45,non_coding_transcript_exon_variant,,ENST00000465806,;WDR45,non_coding_transcript_exon_variant,,ENST00000433252,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,downstream_gene_variant,,ENST00000480412,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,downstream_gene_variant,,ENST00000472654,;	1284	131	94	SUCCESS
STS	412	.	GRCh37	X	7194007	7194007	+	synonymous_variant	Silent	SNP	G	G	A	rs376166767	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	27	33	0	ENST00000217961.4:c.837G>A	p.Pro279=	p.P279=	ENST00000217961	NM_000351.4	279	ccG/ccA	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS14127.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGTTCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF202,Gene3D:3.40.720.10,Pfam_domain:PF00884,Superfamily_domains:SSF53649	.	A:0.0001	ENSP00000217961	.	6/10	.	.	.	.	.	.	.	.	rs376166767	6/10	PASS	ENST00000217961	Transcript	.	.	ENSG00000101846	11425	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STS_HUMAN	STS	HGNC	.	.	UPI0000136153	SNV	STS,synonymous_variant,p.%3D,ENST00000217961,;	1057	33	33	SUCCESS
PITX3	5309	.	GRCh37	10	103991828	103991828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	119	0	ENST00000370002.3:c.10G>T	p.Gly4Cys	p.G4C	ENST00000370002	NM_005029.3	4	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS7532.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCGAACT	NONE	.	.	PIRSF_domain:PIRSF000563	.	.	ENSP00000359019	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000370002	Transcript	1	.	ENSG00000107859	9006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious_low_confidence(0.05)	.	PITX3_HUMAN	PITX3	HGNC	.	.	UPI0000131B4F	SNV	PITX3,missense_variant,p.Gly4Cys,ENST00000539804,;PITX3,missense_variant,p.Gly4Cys,ENST00000370002,;ELOVL3,downstream_gene_variant,,ENST00000370005,;	164	119	54	SUCCESS
PSD	5662	.	GRCh37	10	104176348	104176348	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771665440	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	167	1	ENST00000020673.5:c.448C>T	p.Arg150Trp	p.R150W	ENST00000020673	NM_001270966.1	150	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31272.1	448	MUTECT|MUSE	.	CAGCCGTAACT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115	.	.	ENSP00000020673	.	2/17	.	.	.	.	.	.	.	.	rs771665440	2/17	PASS	ENST00000020673	Transcript	.	.	ENSG00000059915	9507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.071)	.	deleterious_low_confidence(0.02)	.	PSD1_HUMAN	PSD	HGNC	.	.	UPI0000404928	SNV	PSD,missense_variant,p.Arg150Trp,ENST00000020673,;PSD,missense_variant,p.Arg150Trp,ENST00000406432,;FBXL15,upstream_gene_variant,,ENST00000440407,;FBXL15,upstream_gene_variant,,ENST00000425536,;FBXL15,upstream_gene_variant,,ENST00000457067,;FBXL15,upstream_gene_variant,,ENST00000224862,;FBXL15,upstream_gene_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000369956,;PSD,upstream_gene_variant,,ENST00000488194,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,downstream_gene_variant,,ENST00000492902,;FBXL15,upstream_gene_variant,,ENST00000481808,;	975	168	90	SUCCESS
SORL1	6653	.	GRCh37	11	121393351	121393351	+	synonymous_variant	Silent	SNP	C	C	T	rs781738511	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	45	0	ENST00000260197.7:c.1461C>T	p.Leu487=	p.L487=	ENST00000260197	NM_003105.5	487	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8436.1	1461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCCAGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000260197	.	10/48	.	.	.	.	.	.	.	.	rs781738511	10/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,synonymous_variant,p.%3D,ENST00000260197,;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	1590	45	68	SUCCESS
ZNF202	7753	.	GRCh37	11	123601678	123601678	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	29	0	ENST00000336139.4:c.-82A>C		p.*28*	ENST00000336139				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8443.1	.	MUTECT|MUSE	.	GAGGATTTTCT	NONE	.	.	.	.	.	ENSP00000337724	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,5_prime_UTR_variant,,ENST00000529691,;ZNF202,5_prime_UTR_variant,,ENST00000336139,;ZNF202,5_prime_UTR_variant,,ENST00000530393,;ZNF202,5_prime_UTR_variant,,ENST00000528306,;ZNF202,5_prime_UTR_variant,,ENST00000533463,;ZNF202,5_prime_UTR_variant,,ENST00000526252,;ZNF202,non_coding_transcript_exon_variant,,ENST00000529250,;ZNF202,intron_variant,,ENST00000530944,;	282	29	24	SUCCESS
MAPK8IP1	9479	.	GRCh37	11	45924368	45924368	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	54	1	ENST00000241014.2:c.1050A>G	p.Gly350=	p.G350=	ENST00000241014	NM_005456.3	350	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS7916.1	1050	MUTECT|MUSE	.	GGCGGAGGGTG	NONE	.	.	.	.	.	ENSP00000241014	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000241014	Transcript	.	.	ENSG00000121653	6882	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JIP1_HUMAN	MAPK8IP1	HGNC	Q59EU1_HUMAN,B4DJ64_HUMAN	.	UPI000003046D	SNV	MAPK8IP1,synonymous_variant,p.%3D,ENST00000395629,;MAPK8IP1,synonymous_variant,p.%3D,ENST00000241014,;C11orf94,downstream_gene_variant,,ENST00000449465,;RP11-618K13.2,downstream_gene_variant,,ENST00000533218,;MAPK8IP1,downstream_gene_variant,,ENST00000497090,;	1220	56	32	SUCCESS
OR51B2	79345	.	GRCh37	11	5345209	5345209	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766504415	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	44	0	ENST00000328813.2:c.319G>T	p.Val107Phe	p.V107F	ENST00000328813	NM_033180.4	107	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS31377.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAACAGAAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF76,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000327540	.	1/1	.	.	.	.	.	.	.	.	rs766504415	1/1	PASS	ENST00000328813	Transcript	.	.	ENSG00000184881	14703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	O51B2_HUMAN	OR51B2	HGNC	.	.	UPI0000456470	SNV	OR51B2,missense_variant,p.Val107Phe,ENST00000328813,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000420465,;	374	44	97	SUCCESS
FAM160A2	0	.	GRCh37	11	6244964	6244964	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	63	245	0	ENST00000265978.4:c.653C>T	p.Pro218Leu	p.P218L	ENST00000265978	NM_032127.3	218	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7760.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGGGACA	NONE	.	.	Pfam_domain:PF10257,hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4	.	.	ENSP00000265978	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000265978	Transcript	.	.	ENSG00000051009	25378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	F16A2_HUMAN	FAM160A2	HGNC	.	.	UPI000013D6B5	SNV	FAM160A2,missense_variant,p.Pro218Leu,ENST00000265978,;FAM160A2,missense_variant,p.Pro218Leu,ENST00000449352,;FAM160A2,missense_variant,p.Pro218Leu,ENST00000524416,;FAM160A2,upstream_gene_variant,,ENST00000532797,;	1012	245	208	SUCCESS
SUV420H1	0	.	GRCh37	11	67934456	67934457	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1434065199	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	51	0	ENST00000304363.4:c.1166dup	p.Asn389LysfsTer6	p.N389Kfs*6	ENST00000304363	NM_017635.3	389	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS31623.1	1166-1167	INDELOCATOR|VARSCANI	.	GCATTGTTTTT	NONE	.	.	hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10	.	.	ENSP00000305899	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000304363	Transcript	.	.	ENSG00000110066	24283	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SV421_HUMAN	SUV420H1	HGNC	E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN	.	UPI00001FADE7	insertion	SUV420H1,frameshift_variant,p.Asn389LysfsTer7,ENST00000402789,;SUV420H1,frameshift_variant,p.Asn389LysfsTer5,ENST00000405515,;SUV420H1,frameshift_variant,p.Asn389LysfsTer6,ENST00000304363,;SUV420H1,frameshift_variant,p.Asn366LysfsTer5,ENST00000402185,;SUV420H1,frameshift_variant,p.Asn389LysfsTer5,ENST00000401547,;SUV420H1,downstream_gene_variant,,ENST00000533271,;SUV420H1,3_prime_UTR_variant,,ENST00000427752,;SUV420H1,3_prime_UTR_variant,,ENST00000441488,;SUV420H1,downstream_gene_variant,,ENST00000524672,;SUV420H1,downstream_gene_variant,,ENST00000323599,;	1520-1521	51	70	SUCCESS
FAT3	120114	.	GRCh37	11	92533685	92533685	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	55	0	ENST00000298047.6:c.7506A>T	p.Val2502=	p.V2502=	ENST00000298047		2502	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	.	7506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTAGCTGA	BUFFER|p.V2502I|c.7504G>A|3,BUFFER|p.V2502I|c.7504G>A|3	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;	7523	55	93	SUCCESS
YBX3	8531	.	GRCh37	12	10865872	10865872	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747930990	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	46	0	ENST00000228251.4:c.511G>A	p.Ala171Thr	p.A171T	ENST00000228251	NM_003651.4	171	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8630.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCGTAAC	NONE	byFrequency	.	hmmpanther:PTHR11544:SF14,hmmpanther:PTHR11544	.	.	ENSP00000228251	.	5/10	.	.	.	.	.	.	.	.	rs747930990	5/10	PASS	ENST00000228251	Transcript	.	.	ENSG00000060138	2428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious(0.03)	.	YBOX3_HUMAN	YBX3	HGNC	.	.	UPI000013DBD6	SNV	YBX3,missense_variant,p.Ala171Thr,ENST00000279550,;YBX3,missense_variant,p.Ala171Thr,ENST00000228251,;YBX3,non_coding_transcript_exon_variant,,ENST00000546298,;YBX3,non_coding_transcript_exon_variant,,ENST00000544622,;YBX3,non_coding_transcript_exon_variant,,ENST00000539204,;YBX3,upstream_gene_variant,,ENST00000546164,;YBX3,upstream_gene_variant,,ENST00000544504,;YBX3,downstream_gene_variant,,ENST00000540747,;YBX3,downstream_gene_variant,,ENST00000544501,;YBX3,non_coding_transcript_exon_variant,,ENST00000540447,;YBX3,non_coding_transcript_exon_variant,,ENST00000542641,;YBX3,non_coding_transcript_exon_variant,,ENST00000542002,;YBX3,upstream_gene_variant,,ENST00000541351,;YBX3,downstream_gene_variant,,ENST00000536107,;	712	46	25	SUCCESS
ITFG2	55846	.	GRCh37	12	2921922	2921922	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	60	0	ENST00000228799.2:c.-5G>A		p.*2*	ENST00000228799	NM_018463.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8513.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGTGCCA	NONE	.	.	.	.	.	ENSP00000228799	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000228799	Transcript	.	.	ENSG00000111203	30879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITFG2_HUMAN	ITFG2	HGNC	H0YFM4_HUMAN,E7EST0_HUMAN	.	UPI00000373A8	SNV	ITFG2,5_prime_UTR_variant,,ENST00000419778,;ITFG2,5_prime_UTR_variant,,ENST00000542548,;ITFG2,5_prime_UTR_variant,,ENST00000228799,;ITFG2,upstream_gene_variant,,ENST00000535564,;RP4-816N1.6,non_coding_transcript_exon_variant,,ENST00000547834,;RP4-816N1.6,non_coding_transcript_exon_variant,,ENST00000547794,;RP4-816N1.6,upstream_gene_variant,,ENST00000552469,;ITFG2,5_prime_UTR_variant,,ENST00000537851,;ITFG2,5_prime_UTR_variant,,ENST00000540929,;ITFG2,non_coding_transcript_exon_variant,,ENST00000543029,;ITFG2,upstream_gene_variant,,ENST00000541659,;	135	60	27	SUCCESS
MCRS1	10445	.	GRCh37	12	49960179	49960179	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	93	0	ENST00000343810.4:c.11-181G>C		p.*4*	ENST00000343810	NM_006337.4	15		0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS31795.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13233,hmmpanther:PTHR13233:SF0	.	.	ENSP00000349640	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000357123	Transcript	.	.	ENSG00000187778	6960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.55)	.	MCRS1_HUMAN	MCRS1	HGNC	Q7Z372_HUMAN,F8W126_HUMAN	.	UPI0000351552	SNV	MCRS1,missense_variant,p.Gly15Ala,ENST00000357123,;MCRS1,intron_variant,,ENST00000548334,;MCRS1,intron_variant,,ENST00000553173,;MCRS1,intron_variant,,ENST00000550165,;MCRS1,intron_variant,,ENST00000548596,;MCRS1,intron_variant,,ENST00000546244,;MCRS1,intron_variant,,ENST00000343810,;MCRS1,intron_variant,,ENST00000549528,;PRPF40B,upstream_gene_variant,,ENST00000551063,;PRPF40B,upstream_gene_variant,,ENST00000547764,;MCRS1,upstream_gene_variant,,ENST00000547182,;PRPF40B,upstream_gene_variant,,ENST00000552301,;MCRS1,non_coding_transcript_exon_variant,,ENST00000552206,;MCRS1,non_coding_transcript_exon_variant,,ENST00000551625,;MCRS1,non_coding_transcript_exon_variant,,ENST00000549000,;MCRS1,intron_variant,,ENST00000548602,;	44	93	54	SUCCESS
AGAP2	116986	.	GRCh37	12	58120766	58120766	+	synonymous_variant	Silent	SNP	C	C	T	rs1402533600	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	103	0	ENST00000547588.1:c.3327G>A	p.Leu1109=	p.L1109=	ENST00000547588	NM_001122772.2	1109	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44932.1	3327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCAGTTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000449241	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,synonymous_variant,p.%3D,ENST00000257897,;AGAP2,synonymous_variant,p.%3D,ENST00000328568,;AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2-AS1,5_prime_UTR_variant,,ENST00000542466,;AGAP2,downstream_gene_variant,,ENST00000549129,;RP11-571M6.8,upstream_gene_variant,,ENST00000548410,;RP11-571M6.8,upstream_gene_variant,,ENST00000602413,;	3327	103	61	SUCCESS
WASF3	10810	.	GRCh37	13	27241651	27241651	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	75	266	0	ENST00000335327.5:c.269-3T>C		p.X90_splice	ENST00000335327	NM_006646.5	90		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9318.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAATAGTCT	NONE	.	.	.	.	.	ENSP00000335055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335327	Transcript	.	.	ENSG00000132970	12734	.	.	LOW	4/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WASF3_HUMAN	WASF3	HGNC	Q5T8P4_HUMAN,B4DGR1_HUMAN	.	UPI000013CEA7	SNV	WASF3,splice_region_variant,,ENST00000361042,;WASF3,splice_region_variant,,ENST00000335327,;WASF3,splice_region_variant,,ENST00000496788,;	.	266	267	SUCCESS
DLK1	8788	.	GRCh37	14	101201153	101201153	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	84	0	ENST00000341267.4:c.1072G>A	p.Asp358Asn	p.D358N	ENST00000341267	NM_003836.5	358	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS9963.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGACCTG	NONE	.	.	hmmpanther:PTHR24052:SF10,hmmpanther:PTHR24052	.	.	ENSP00000340292	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341267	Transcript	1	.	ENSG00000185559	2907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	tolerated(0.36)	.	DLK1_HUMAN	DLK1	HGNC	G3XAH5_HUMAN	.	UPI00001AFE16	SNV	DLK1,missense_variant,p.Asp285Asn,ENST00000331224,;DLK1,missense_variant,p.Asp358Asn,ENST00000341267,;DLK1,downstream_gene_variant,,ENST00000392848,;RP11-566J3.4,upstream_gene_variant,,ENST00000608876,;	1314	84	42	SUCCESS
NDRG2	57447	.	GRCh37	14	21490285	21490285	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	144	1	ENST00000298687.5:c.280A>C	p.Asn94His	p.N94H	ENST00000298687	NM_201535.1	94	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS9565.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTCTGAA	NONE	.	.	hmmpanther:PTHR11034:SF17,hmmpanther:PTHR11034,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474	.	.	ENSP00000451712	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000556147	Transcript	.	.	ENSG00000165795	14460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(1)	.	NDRG2_HUMAN	NDRG2	HGNC	G3V5S0_HUMAN,G3V5P9_HUMAN,G3V5L7_HUMAN,G3V5B5_HUMAN,G3V578_HUMAN,G3V552_HUMAN,G3V4T9_HUMAN,G3V3P1_HUMAN,G3V3D5_HUMAN,G3V383_HUMAN,G3V358_HUMAN,G3V2T2_HUMAN,G3V2S0_HUMAN,G3V2I9_HUMAN	.	UPI000012FEDE	SNV	NDRG2,missense_variant,p.Asn80His,ENST00000554489,;NDRG2,missense_variant,p.Asn80His,ENST00000554561,;NDRG2,missense_variant,p.Asn80His,ENST00000556329,;NDRG2,missense_variant,p.Asn80His,ENST00000350792,;NDRG2,missense_variant,p.Asn80His,ENST00000555158,;NDRG2,missense_variant,p.Asn80His,ENST00000554483,;NDRG2,missense_variant,p.Asn80His,ENST00000556008,;NDRG2,missense_variant,p.Asn80His,ENST00000557274,;NDRG2,missense_variant,p.Asn94His,ENST00000555733,;NDRG2,missense_variant,p.Asn94His,ENST00000554472,;NDRG2,missense_variant,p.Asn7His,ENST00000556366,;NDRG2,missense_variant,p.Asn94His,ENST00000556561,;NDRG2,missense_variant,p.Asn94His,ENST00000556688,;NDRG2,missense_variant,p.Asn39His,ENST00000557182,;NDRG2,missense_variant,p.Asn80His,ENST00000555142,;NDRG2,missense_variant,p.Asn80His,ENST00000557264,;NDRG2,missense_variant,p.Asn80His,ENST00000554143,;NDRG2,missense_variant,p.Asn55His,ENST00000449431,;NDRG2,missense_variant,p.Asn80His,ENST00000397856,;NDRG2,missense_variant,p.Asn80His,ENST00000555869,;NDRG2,missense_variant,p.Asn37His,ENST00000557633,;NDRG2,missense_variant,p.Asn80His,ENST00000397855,;NDRG2,missense_variant,p.Asn80His,ENST00000298684,;NDRG2,missense_variant,p.Asn94His,ENST00000556147,;NDRG2,missense_variant,p.Asn94His,ENST00000555384,;NDRG2,missense_variant,p.Asn94His,ENST00000298687,;NDRG2,missense_variant,p.Asn94His,ENST00000556457,;NDRG2,missense_variant,p.Asn80His,ENST00000553442,;NDRG2,missense_variant,p.Asn94His,ENST00000554833,;NDRG2,missense_variant,p.Asn94His,ENST00000397858,;NDRG2,missense_variant,p.Asn94His,ENST00000397847,;NDRG2,missense_variant,p.Asn94His,ENST00000553867,;NDRG2,missense_variant,p.Asn80His,ENST00000556924,;NDRG2,missense_variant,p.Asn94His,ENST00000554398,;NDRG2,missense_variant,p.Glu74Ala,ENST00000553563,;NDRG2,missense_variant,p.Asn94His,ENST00000397851,;NDRG2,missense_variant,p.Asn80His,ENST00000557149,;NDRG2,missense_variant,p.Asn80His,ENST00000556420,;NDRG2,missense_variant,p.Asn80His,ENST00000555657,;NDRG2,missense_variant,p.Asn80His,ENST00000557169,;NDRG2,missense_variant,p.Asn80His,ENST00000554893,;NDRG2,missense_variant,p.Asn80His,ENST00000557676,;NDRG2,missense_variant,p.Asn80His,ENST00000555026,;NDRG2,missense_variant,p.Asn90His,ENST00000403829,;NDRG2,missense_variant,p.Asn94His,ENST00000553784,;NDRG2,missense_variant,p.Asn80His,ENST00000553503,;NDRG2,missense_variant,p.Asn94His,ENST00000397853,;NDRG2,missense_variant,p.Asn83His,ENST00000554531,;NDRG2,missense_variant,p.Asn94His,ENST00000554419,;NDRG2,missense_variant,p.Asn80His,ENST00000397844,;NDRG2,missense_variant,p.Asn7His,ENST00000554104,;NDRG2,missense_variant,p.Asn80His,ENST00000556974,;NDRG2,missense_variant,p.Asn80His,ENST00000360463,;NDRG2,missense_variant,p.Asn80His,ENST00000554094,;NDRG2,downstream_gene_variant,,ENST00000554415,;NDRG2,upstream_gene_variant,,ENST00000553593,;AL161668.5,upstream_gene_variant,,ENST00000532213,;AL161668.5,upstream_gene_variant,,ENST00000533984,;NDRG2,upstream_gene_variant,,ENST00000554277,;NDRG2,missense_variant,p.Asn80His,ENST00000557616,;NDRG2,missense_variant,p.Asn80His,ENST00000554379,;NDRG2,missense_variant,p.Glu74Ala,ENST00000557353,;NDRG2,missense_variant,p.Asn94His,ENST00000555695,;NDRG2,missense_variant,p.Arg44Ser,ENST00000555767,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557669,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557113,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557198,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557728,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553741,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553862,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553900,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557318,;TPPP2,upstream_gene_variant,,ENST00000533755,;NDRG2,downstream_gene_variant,,ENST00000557167,;NDRG2,upstream_gene_variant,,ENST00000555650,;NDRG2,upstream_gene_variant,,ENST00000553793,;NDRG2,upstream_gene_variant,,ENST00000366204,;NDRG2,upstream_gene_variant,,ENST00000557416,;NDRG2,upstream_gene_variant,,ENST00000553567,;NDRG2,upstream_gene_variant,,ENST00000556716,;NDRG2,upstream_gene_variant,,ENST00000557305,;	1221	145	125	SUCCESS
HECTD1	25831	.	GRCh37	14	31644219	31644219	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	5	42	0	ENST00000399332.1:c.501G>A	p.Met167Ile	p.M167I	ENST00000399332	NM_015382.2	167	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS41939.1	501	MUTECT|MUSE	.	ACAGCCATAGC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	.	.	ENSP00000382269	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Met167Ile,ENST00000399332,;HECTD1,missense_variant,p.Met167Ile,ENST00000553700,;HECTD1,missense_variant,p.Met167Ile,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000554471,;HECTD1,downstream_gene_variant,,ENST00000553616,;	990	42	92	SUCCESS
SOS2	6655	.	GRCh37	14	50649189	50649189	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	51	0	ENST00000216373.5:c.850T>A	p.Leu284Met	p.L284M	ENST00000216373	NM_006939.2	284	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9697.1	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAATCTT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR23113:SF150,hmmpanther:PTHR23113,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000216373	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000216373	Transcript	.	.	ENSG00000100485	11188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	tolerated(0.24)	.	SOS2_HUMAN	SOS2	HGNC	B4DJ05_HUMAN	.	UPI000013C6E8	SNV	SOS2,missense_variant,p.Leu284Met,ENST00000543680,;SOS2,missense_variant,p.Leu284Met,ENST00000216373,;SOS2,non_coding_transcript_exon_variant,,ENST00000556469,;SOS2,upstream_gene_variant,,ENST00000555794,;	1125	51	72	SUCCESS
TDP1	55775	.	GRCh37	14	90446920	90446920	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	51	0	ENST00000335725.4:c.828G>T	p.Arg276=	p.R276=	ENST00000335725	NM_018319.3	276	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9888.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGGGTTGT	NONE	.	.	hmmpanther:PTHR12415:SF0,hmmpanther:PTHR12415,Pfam_domain:PF06087,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000337353	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000335725	Transcript	1	.	ENSG00000042088	18884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYDP1_HUMAN	TDP1	HGNC	G3V5F9_HUMAN,G3V5B8_HUMAN,G3V554_HUMAN,G3V3Q0_HUMAN,G3V2U6_HUMAN,G3V2J6_HUMAN,B3KN41_HUMAN	.	UPI00000737ED	SNV	TDP1,synonymous_variant,p.%3D,ENST00000553617,;TDP1,synonymous_variant,p.%3D,ENST00000393452,;TDP1,synonymous_variant,p.%3D,ENST00000555880,;TDP1,synonymous_variant,p.%3D,ENST00000554180,;TDP1,synonymous_variant,p.%3D,ENST00000393454,;TDP1,synonymous_variant,p.%3D,ENST00000335725,;TDP1,synonymous_variant,p.%3D,ENST00000357382,;TDP1,upstream_gene_variant,,ENST00000556063,;TDP1,non_coding_transcript_exon_variant,,ENST00000555565,;TDP1,synonymous_variant,p.%3D,ENST00000557782,;TDP1,synonymous_variant,p.%3D,ENST00000545686,;TDP1,3_prime_UTR_variant,,ENST00000555178,;TDP1,3_prime_UTR_variant,,ENST00000554976,;	1078	51	87	SUCCESS
SERPINA1	5265	.	GRCh37	14	94848963	94848964	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	rs921982028	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	112	46	100	0	ENST00000355814.4:c.611_612del	p.Thr204SerfsTer11	p.T204Sfs*11	ENST00000355814	NM_001002235.2	204	aCA/a	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS9925.1	611-612	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAAACTGTGTCT	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461:SF150,hmmpanther:PTHR11461	.	.	ENSP00000416066	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000448921	Transcript	1	.	ENSG00000197249	8941	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A1AT_HUMAN	SERPINA1	HGNC	Q3I0J7_HUMAN,G3V5R8_HUMAN,G3V544_HUMAN,G3V4I7_HUMAN,G3V387_HUMAN,G3V2B9_HUMAN,E9KL23_HUMAN,A6YP93_HUMAN	.	UPI000000CBEC	deletion	SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000448921,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000449399,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000355814,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000404814,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000393088,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000393087,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000437397,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000402629,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000440909,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000489769,;	1184-1185	100	158	SUCCESS
SEMA6D	80031	.	GRCh37	15	48058110	48058110	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	6	48	0	ENST00000316364.5:c.1472A>T	p.Gln491Leu	p.Q491L	ENST00000316364	NM_153618.1	491	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS32225.1	1472	MUTECT|MUSE	.	ATTACAGTTGG	NONE	.	.	Superfamily_domains:SSF101912,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	.	.	ENSP00000324857	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.082)	.	deleterious(0)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Gln491Leu,ENST00000389432,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000537942,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000358066,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000354744,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000389428,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000355997,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000536845,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000389433,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000558014,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000558816,;SEMA6D,missense_variant,p.Gln491Leu,ENST00000316364,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000389425,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,;	1911	48	115	SUCCESS
NTRK3	4916	.	GRCh37	15	88690596	88690596	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	79	90	0	ENST00000360948.2:c.434A>G	p.Gln145Arg	p.Q145R	ENST00000360948	NM_001012338.2	145	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32322.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTGCCAC	NONE	.	.	Superfamily_domains:SSF52058,Pfam_domain:PF13855,Gene3D:3.80.10.10,PROSITE_profiles:PS51450	.	.	ENSP00000354207	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.69)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.Gln145Arg,ENST00000317501,;NTRK3,missense_variant,p.Gln47Arg,ENST00000559188,;NTRK3,missense_variant,p.Gln145Arg,ENST00000558676,;NTRK3,missense_variant,p.Gln145Arg,ENST00000557856,;NTRK3,missense_variant,p.Gln145Arg,ENST00000540489,;NTRK3,missense_variant,p.Gln145Arg,ENST00000394480,;NTRK3,missense_variant,p.Gln47Arg,ENST00000542733,;NTRK3,missense_variant,p.Gln145Arg,ENST00000357724,;NTRK3,missense_variant,p.Gln145Arg,ENST00000355254,;NTRK3,missense_variant,p.Gln145Arg,ENST00000360948,;MED28P6,upstream_gene_variant,,ENST00000558776,;	596	90	157	SUCCESS
NR2F2	7026	.	GRCh37	15	96877632	96877632	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	129	0	ENST00000394166.3:c.770C>G	p.Ala257Gly	p.A257G	ENST00000394166	NM_021005.3	257	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS10375.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCGGCGC	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000377721	.	2/3	.	.	.	.	.	.	.	.	COSM966751	2/3	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0)	1	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	SNV	NR2F2,missense_variant,p.Ala104Gly,ENST00000453270,;NR2F2,missense_variant,p.Ala257Gly,ENST00000394166,;NR2F2,missense_variant,p.Ala124Gly,ENST00000421109,;NR2F2,missense_variant,p.Ala104Gly,ENST00000394171,;NR2F2,downstream_gene_variant,,ENST00000559679,;MIR1469,downstream_gene_variant,,ENST00000410719,;	2159	129	93	SUCCESS
TNRC6A	27327	.	GRCh37	16	24826592	24826592	+	synonymous_variant	Silent	SNP	G	G	A	rs773542201	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	78	0	ENST00000395799.3:c.4797G>A	p.Ser1599=	p.S1599=	ENST00000395799	NM_014494.2	1599	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10624.2	4797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCGCCTAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	19/25	.	.	.	.	.	.	.	.	rs773542201	19/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,synonymous_variant,p.%3D,ENST00000395799,;TNRC6A,synonymous_variant,p.%3D,ENST00000315183,;TNRC6A,synonymous_variant,p.%3D,ENST00000450465,;TNRC6A,synonymous_variant,p.%3D,ENST00000432286,;TNRC6A,upstream_gene_variant,,ENST00000569098,;CTD-2515A14.1,intron_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000462400,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000477487,;TNRC6A,intron_variant,,ENST00000569376,;TNRC6A,upstream_gene_variant,,ENST00000569634,;	4926	78	67	SUCCESS
RNF40	9810	.	GRCh37	16	30774809	30774809	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749830526	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	168	0	ENST00000324685.6:c.371C>G	p.Ala124Gly	p.A124G	ENST00000324685	NM_014771.3	124	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS10691.1	371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCACCTG	NONE	.	.	hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1	.	.	ENSP00000325677	.	4/20	.	.	.	.	.	.	.	.	rs749830526	4/20	PASS	ENST00000324685	Transcript	.	.	ENSG00000103549	16867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.37)	.	BRE1B_HUMAN	RNF40	HGNC	I3L332_HUMAN,H3BUL6_HUMAN,H3BS50_HUMAN,H3BQ99_HUMAN,B4E313_HUMAN	.	UPI000013D2CF	SNV	RNF40,missense_variant,p.Ala124Gly,ENST00000566811,;RNF40,missense_variant,p.Ala124Gly,ENST00000563683,;RNF40,missense_variant,p.Ala124Gly,ENST00000324685,;RNF40,missense_variant,p.Ala124Gly,ENST00000565931,;RNF40,missense_variant,p.Ala124Gly,ENST00000357890,;RNF40,intron_variant,,ENST00000402121,;RNF40,intron_variant,,ENST00000565995,;C16orf93,upstream_gene_variant,,ENST00000545825,;C16orf93,upstream_gene_variant,,ENST00000541260,;RNF40,downstream_gene_variant,,ENST00000563909,;PHKG2,downstream_gene_variant,,ENST00000424889,;C16orf93,upstream_gene_variant,,ENST00000535476,;PHKG2,downstream_gene_variant,,ENST00000563588,;C16orf93,upstream_gene_variant,,ENST00000544613,;C16orf93,upstream_gene_variant,,ENST00000543610,;RNF40,non_coding_transcript_exon_variant,,ENST00000493683,;C16orf93,upstream_gene_variant,,ENST00000544487,;C16orf93,upstream_gene_variant,,ENST00000544643,;C16orf93,upstream_gene_variant,,ENST00000543128,;C16orf93,upstream_gene_variant,,ENST00000545809,;RNF40,upstream_gene_variant,,ENST00000564260,;RNF40,upstream_gene_variant,,ENST00000566703,;C16orf93,upstream_gene_variant,,ENST00000546006,;C16orf93,upstream_gene_variant,,ENST00000433909,;C16orf93,upstream_gene_variant,,ENST00000537986,;	806	168	89	SUCCESS
PDPR	55066	.	GRCh37	16	70161189	70161189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	53	150	0	ENST00000288050.4:c.254G>T	p.Cys85Phe	p.C85F	ENST00000288050	NM_017990.3	85	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS45520.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGTGCTG	NONE	.	.	hmmpanther:PTHR13847:SF146,hmmpanther:PTHR13847,Gene3D:3.50.50.60,Pfam_domain:PF01266,Superfamily_domains:SSF51905	.	.	ENSP00000288050	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.49)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Cys85Phe,ENST00000288050,;PDPR,missense_variant,p.Cys85Phe,ENST00000568530,;PDPR,5_prime_UTR_variant,,ENST00000398122,;PDPR,upstream_gene_variant,,ENST00000562100,;PDPR,missense_variant,p.Cys85Phe,ENST00000565186,;PDPR,non_coding_transcript_exon_variant,,ENST00000561920,;	1211	150	140	SUCCESS
DNAH9	1770	.	GRCh37	17	11515213	11515213	+	intron_variant	Intron	SNP	G	G	T	rs113481522	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	16	0	ENST00000262442.4:c.904+116G>T		p.*302*	ENST00000262442	NM_001372.3			0	.	C:0	.	C:0.0014	.	T	.	protein_coding	YES	CCDS11160.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGACACA	NONE	byCluster|by1000G	.	.	C:0	.	ENSP00000262442	C:0	.	.	.	.	.	.	.	.	.	rs113481522	.	PASS	ENST00000262442	Transcript	.	C:0.0002	ENSG00000007174	2953	.	.	MODIFIER	4/68	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,3_prime_UTR_variant,,ENST00000579828,;DNAH9,intron_variant,,ENST00000454412,;DNAH9,intron_variant,,ENST00000262442,;DNAH9,intron_variant,,ENST00000579813,;DNAH9,intron_variant,,ENST00000579602,;DNAH9,intron_variant,,ENST00000579406,;	.	16	27	SUCCESS
TOP2A	7153	.	GRCh37	17	38569014	38569014	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	158	0	ENST00000423485.1:c.786G>A	p.Leu262=	p.L262=	ENST00000423485	NM_001067.3	262	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45672.1	786	MUTECT|MUSE	.	ACTGGCAGTTT	NONE	.	.	hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Gene3D:3.30.565.10,SMART_domains:SM00433,Superfamily_domains:SSF54211,Superfamily_domains:SSF55874	.	.	ENSP00000411532	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000423485	Transcript	.	.	ENSG00000131747	11989	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOP2A_HUMAN	TOP2A	HGNC	J3QR57_HUMAN,J3KTB7_HUMAN	.	UPI0000137195	SNV	TOP2A,synonymous_variant,p.%3D,ENST00000423485,;TOP2A,downstream_gene_variant,,ENST00000581055,;	945	158	107	SUCCESS
STAT5A	6776	.	GRCh37	17	40453352	40453352	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	117	0	ENST00000345506.4:c.1049C>G	p.Ala350Gly	p.A350G	ENST00000345506	NM_003152.3	350	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS11424.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCACCG	NONE	.	.	hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Gene3D:2.60.40.630,Pfam_domain:PF02864,Superfamily_domains:SSF49417	.	.	ENSP00000341208	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000345506	Transcript	.	.	ENSG00000126561	11366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	tolerated(0.06)	.	STA5A_HUMAN	STAT5A	HGNC	K7EIF9_HUMAN,C9JVV6_HUMAN	.	UPI0000136075	SNV	STAT5A,missense_variant,p.Ala320Gly,ENST00000546010,;STAT5A,missense_variant,p.Ala350Gly,ENST00000590949,;STAT5A,missense_variant,p.Ala350Gly,ENST00000452307,;STAT5A,missense_variant,p.Ala350Gly,ENST00000345506,;STAT5A,missense_variant,p.Ala350Gly,ENST00000588868,;STAT5A,downstream_gene_variant,,ENST00000590726,;STAT5A,upstream_gene_variant,,ENST00000587646,;STAT5A,upstream_gene_variant,,ENST00000479417,;STAT5A,upstream_gene_variant,,ENST00000468096,;STAT5A,upstream_gene_variant,,ENST00000591556,;	1691	117	72	SUCCESS
FASN	2194	.	GRCh37	17	80041427	80041427	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	139	0	ENST00000306749.2:c.5307T>C	p.Ile1769=	p.I1769=	ENST00000306749	NM_004104.4	1769	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS11801.1	5307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCAATTTC	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000304592	.	31/43	.	.	.	.	.	.	.	.	.	31/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5526	139	80	SUCCESS
ASXL3	80816	.	GRCh37	18	31324357	31324357	+	synonymous_variant	Silent	SNP	G	G	A	rs761936673	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	65	0	ENST00000269197.5:c.4545G>A	p.Ala1515=	p.A1515=	ENST00000269197	NM_030632.1	1515	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45847.1	4545	MUTECT|MUSE	.	GTGGCGTGTCC	NONE	byFrequency	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	12/12	.	.	.	.	.	.	.	.	rs761936673	12/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,synonymous_variant,p.%3D,ENST00000269197,;ASXL3,downstream_gene_variant,,ENST00000592288,;	4545	65	72	SUCCESS
SIGLEC15	284266	.	GRCh37	18	43418834	43418836	+	inframe_deletion	In_Frame_Del	DEL	GGG	GGG	-	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	GGG	GGG	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	168	0	ENST00000389474.3:c.648_650del	p.Glu216_Gly217delinsAsp	p.E216_G217delinsD	ENST00000389474	NM_213602.2	216	gaGGGt/gat	0	.	.	.	.	.	-	EG/D	protein_coding	YES	CCDS32819.1	648-650	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGTGAGGGTCACG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF47,Pfam_domain:PF13895,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000374125	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000389474	Transcript	.	.	ENSG00000197046	27596	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIG15_HUMAN	SIGLEC15	HGNC	.	.	UPI000015FA55	deletion	SIGLEC15,inframe_deletion,p.Glu216_Gly217delinsAsp,ENST00000389474,;SIGLEC15,inframe_deletion,p.Glu62_Gly63delinsAsp,ENST00000546268,;SIGLEC15,5_prime_UTR_variant,,ENST00000587418,;SIGLEC15,non_coding_transcript_exon_variant,,ENST00000602118,;SIGLEC15,non_coding_transcript_exon_variant,,ENST00000593178,;	865-867	168	83	SUCCESS
LSM4	25804	.	GRCh37	19	18433893	18433893	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	93	0	ENST00000593829.1:c.-63C>A		p.*21*	ENST00000593829	NM_012321.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12374.1	.	MUTECT|MUSE	.	CCGGCGGTCGT	NONE	.	.	.	.	.	ENSP00000469468	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000593829	Transcript	.	.	ENSG00000130520	17259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LSM4_HUMAN	LSM4	HGNC	U3KQK1_HUMAN	.	UPI0000001C1F	SNV	LSM4,5_prime_UTR_variant,,ENST00000593829,;LSM4,5_prime_UTR_variant,,ENST00000594828,;LSM4,upstream_gene_variant,,ENST00000252816,;LSM4,non_coding_transcript_exon_variant,,ENST00000593564,;LSM4,upstream_gene_variant,,ENST00000600289,;	192	93	60	SUCCESS
NFIC	4782	.	GRCh37	19	3452573	3452573	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	117	0	ENST00000443272.2:c.1178C>T	p.Ala393Val	p.A393V	ENST00000443272	NM_001245002.1	393	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS59330.1	1178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCCATCC	NONE	.	.	hmmpanther:PTHR11492,Pfam_domain:PF00859	.	.	ENSP00000396843	.	8/11	.	.	.	.	.	.	.	.	COSM1392371	8/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	1	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,missense_variant,p.Ala393Val,ENST00000590282,;NFIC,missense_variant,p.Ala393Val,ENST00000341919,;NFIC,missense_variant,p.Ala384Val,ENST00000395111,;NFIC,missense_variant,p.Ala360Val,ENST00000586919,;NFIC,missense_variant,p.Ala384Val,ENST00000589123,;NFIC,missense_variant,p.Ala360Val,ENST00000346156,;NFIC,missense_variant,p.Ala393Val,ENST00000443272,;NFIC,upstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;NFIC,upstream_gene_variant,,ENST00000589969,;	1229	117	35	SUCCESS
MATK	4145	.	GRCh37	19	3778345	3778345	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	158	0	ENST00000310132.6:c.1360C>A	p.His454Asn	p.H454N	ENST00000310132	NM_139355.2	454	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS12113.1	1363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTGCACGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000378485	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	deleterious(0.02)	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,missense_variant,p.His453Asn,ENST00000585778,;MATK,missense_variant,p.His455Asn,ENST00000395045,;MATK,missense_variant,p.His413Asn,ENST00000395040,;MATK,missense_variant,p.His454Asn,ENST00000310132,;MATK,downstream_gene_variant,,ENST00000587180,;MATK,downstream_gene_variant,,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590493,;AC005777.3,upstream_gene_variant,,ENST00000588332,;	1701	158	76	SUCCESS
RTCA	8634	.	GRCh37	1	100741183	100741183	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	67	205	0	ENST00000370128.4:c.644T>G	p.Val215Gly	p.V215G	ENST00000370128	NM_003729.3	215	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS44178.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTTAGAT	NONE	.	.	hmmpanther:PTHR11096,hmmpanther:PTHR11096:SF0,Gene3D:3kgdA02,Pfam_domain:PF01137,Pfam_domain:PF05189,TIGRFAM_domain:TIGR03399,Superfamily_domains:SSF55205,Superfamily_domains:0048986	.	.	ENSP00000260563	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000260563	Transcript	.	.	ENSG00000137996	17981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.22)	.	RTCA_HUMAN	RTCA	HGNC	.	.	UPI000002B2DC	SNV	RTCA,missense_variant,p.Val215Gly,ENST00000370128,;RTCA,missense_variant,p.Val228Gly,ENST00000260563,;RTCA,downstream_gene_variant,,ENST00000483474,;RTCA,downstream_gene_variant,,ENST00000498617,;	810	205	240	SUCCESS
VHLL	391104	.	GRCh37	1	156269306	156269306	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	96	0	ENST00000339922.3:c.-326A>G		p.*109*	ENST00000339922	NM_001004319.2			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAATATTTA	NONE	.	.	.	.	.	ENSP00000464258	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000339922	Transcript	.	.	ENSG00000189030	30666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VHLL_HUMAN	VHLL	HGNC	.	.	UPI0000253B18	SNV	VHLL,5_prime_UTR_variant,,ENST00000339922,;C1orf85,upstream_gene_variant,,ENST00000362007,;C1orf85,upstream_gene_variant,,ENST00000368264,;C1orf85,upstream_gene_variant,,ENST00000479084,;C1orf85,upstream_gene_variant,,ENST00000476177,;C1orf85,upstream_gene_variant,,ENST00000472870,;C1orf85,upstream_gene_variant,,ENST00000484214,;	123	96	97	SUCCESS
FAM20B	9917	.	GRCh37	1	179041061	179041061	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	132	214	0	ENST00000263733.4:c.1012A>T	p.Thr338Ser	p.T338S	ENST00000263733	NM_014864.3	338	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS1328.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCACCTGG	NONE	.	.	hmmpanther:PTHR12450,Pfam_domain:PF06702	.	.	ENSP00000263733	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000263733	Transcript	.	.	ENSG00000116199	23017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.05)	.	XYLK_HUMAN	FAM20B	HGNC	.	.	UPI000000DB7F	SNV	FAM20B,missense_variant,p.Thr338Ser,ENST00000263733,;	1348	214	316	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	18014160	18014160	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	132	0	ENST00000361221.3:c.3102C>G	p.Thr1034=	p.T1034=	ENST00000361221	NM_018125.3	1034	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS182.1	3102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCTCCAT	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000355060	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,synonymous_variant,p.%3D,ENST00000375415,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000361221,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000434513,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000375408,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000167825,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	3261	132	59	SUCCESS
SMG7	9887	.	GRCh37	1	183519889	183519889	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	313	85	125	0	ENST00000347615.2:c.2987A>G	p.His996Arg	p.H996R	ENST00000347615	NM_173156.2	996	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS41445.2	2999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCATTCAA	NONE	.	.	.	.	.	ENSP00000425133	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.325)	.	deleterious_low_confidence(0)	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,missense_variant,p.His1029Arg,ENST00000367537,;SMG7,missense_variant,p.His1000Arg,ENST00000507469,;SMG7,missense_variant,p.His996Arg,ENST00000347615,;SMG7,missense_variant,p.His908Arg,ENST00000456731,;SMG7,missense_variant,p.His1004Arg,ENST00000508461,;SMG7,missense_variant,p.His950Arg,ENST00000515829,;NCF2,downstream_gene_variant,,ENST00000413720,;SMG7,downstream_gene_variant,,ENST00000419169,;NCF2,downstream_gene_variant,,ENST00000367536,;NCF2,downstream_gene_variant,,ENST00000367535,;NCF2,downstream_gene_variant,,ENST00000418089,;SMG7,upstream_gene_variant,,ENST00000495321,;SMG7,downstream_gene_variant,,ENST00000493045,;	3117	125	398	SUCCESS
PGBD5	79605	.	GRCh37	1	230492978	230492978	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	87	120	0	ENST00000525115.1:c.214C>T	p.Gln72Ter	p.Q72*	ENST00000525115		72	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGCACCA	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000431404	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000525115	Transcript	.	.	ENSG00000177614	19405	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBD5_HUMAN	PGBD5	HGNC	.	.	UPI0001D34147	SNV	PGBD5,stop_gained,p.Gln171Ter,ENST00000321327,;PGBD5,stop_gained,p.Gln26Ter,ENST00000391860,;PGBD5,stop_gained,p.Gln72Ter,ENST00000525115,;	238	120	142	SUCCESS
RYR2	6262	.	GRCh37	1	237824155	237824155	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1425494520	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	232	242	0	ENST00000366574.2:c.8344A>G	p.Met2782Val	p.M2782V	ENST00000366574	NM_001035.2	2782	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS55691.1	8344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTATGCTG	NONE	.	.	Pfam_domain:PF02026,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	56/105	.	.	.	.	.	.	.	.	.	56/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.545)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Met2766Val,ENST00000542537,;RYR2,missense_variant,p.Met2782Val,ENST00000366574,;RYR2,missense_variant,p.Met2780Val,ENST00000360064,;	8661	242	408	SUCCESS
WDR64	128025	.	GRCh37	1	241875158	241875158	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	25	57	0	ENST00000366552.2:c.999T>G	p.Val333=	p.V333=	ENST00000366552	NM_144625.4	333	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	.	999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTTAAGGC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978	.	.	ENSP00000355510	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000366552	Transcript	.	.	ENSG00000162843	26570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,synonymous_variant,p.%3D,ENST00000437684,;WDR64,synonymous_variant,p.%3D,ENST00000366552,;WDR64,synonymous_variant,p.%3D,ENST00000414635,;WDR64,synonymous_variant,p.%3D,ENST00000468967,;	1206	57	141	SUCCESS
PTCH2	8643	.	GRCh37	1	45297690	45297690	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs368630408	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	101	0	ENST00000372192.3:c.482A>G	p.Tyr161Cys	p.Y161C	ENST00000372192	NM_003738.4	161	tAc/tGc	0	C:0.0002	.	.	.	.	C	Y/C	protein_coding	YES	CCDS516.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTAGCAG	NONE	byFrequency|byCluster	.	TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62	.	C:0	ENSP00000361266	.	4/22	.	.	.	.	.	.	.	.	rs368630408	4/22	PASS	ENST00000372192	Transcript	.	.	ENSG00000117425	9586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	deleterious(0)	.	PTC2_HUMAN	PTCH2	HGNC	.	.	UPI00001328B8	SNV	PTCH2,missense_variant,p.Tyr161Cys,ENST00000447098,;PTCH2,missense_variant,p.Tyr161Cys,ENST00000372192,;	613	101	84	SUCCESS
DOCK7	85440	.	GRCh37	1	63021551	63021551	+	synonymous_variant	Silent	SNP	T	T	C	rs1473915394	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	28	0	ENST00000340370.5:c.2541A>G	p.Ser847=	p.S847=	ENST00000340370	NM_033407.3	847	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS30734.1	2541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATATGATGC	NONE	.	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	21/49	.	.	.	.	.	.	.	.	.	21/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,synonymous_variant,p.%3D,ENST00000251157,;DOCK7,synonymous_variant,p.%3D,ENST00000340370,;DOCK7,synonymous_variant,p.%3D,ENST00000454575,;	2559	28	55	SUCCESS
DOCK7	85440	.	GRCh37	1	63091000	63091000	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1557822340	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	48	98	0	ENST00000340370.5:c.1355G>A	p.Ser452Asn	p.S452N	ENST00000340370	NM_033407.3	452	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS30734.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACTTGTT	NONE	.	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	12/49	.	.	.	.	.	.	.	.	.	12/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.15)	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,missense_variant,p.Ser452Asn,ENST00000404627,;DOCK7,missense_variant,p.Ser452Asn,ENST00000251157,;DOCK7,missense_variant,p.Ser452Asn,ENST00000340370,;DOCK7,non_coding_transcript_exon_variant,,ENST00000464312,;	1373	98	145	SUCCESS
PRKACB	5567	.	GRCh37	1	84543803	84543803	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1557887994	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	37	0	ENST00000370689.2:c.-206C>T		p.*69*	ENST00000370689	NM_002731.2			0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605506	Transcript	.	.	ENSG00000271576	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-486G15.2	Clone_based_vega_gene	.	.	.	SNV	PRKACB,5_prime_UTR_variant,,ENST00000370689,;PRKACB,upstream_gene_variant,,ENST00000370688,;RP11-486G15.2,upstream_gene_variant,,ENST00000605506,;	.	37	30	SUCCESS
ZNF644	84146	.	GRCh37	1	91406004	91406004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	41	0	ENST00000337393.5:c.907T>C	p.Tyr303His	p.Y303H	ENST00000337393	NM_201269.2	303	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS731.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATAACGAG	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF180	.	.	ENSP00000359469	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.43)	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,missense_variant,p.Tyr303His,ENST00000370440,;ZNF644,missense_variant,p.Tyr303His,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,;ZNF644,upstream_gene_variant,,ENST00000479798,;	1125	41	56	SUCCESS
MIS18A	54069	.	GRCh37	21	33641405	33641405	+	synonymous_variant	Silent	SNP	T	T	C	rs1180716137	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	113	489	0	ENST00000290130.3:c.645A>G	p.Leu215=	p.L215=	ENST00000290130	NM_018944.2	215	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13611.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTAATGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16431,hmmpanther:PTHR16431:SF2	.	.	ENSP00000290130	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000290130	Transcript	.	.	ENSG00000159055	1286	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MS18A_HUMAN	MIS18A	HGNC	.	.	UPI0000000C0D	SNV	MIS18A,synonymous_variant,p.%3D,ENST00000290130,;MIS18A,downstream_gene_variant,,ENST00000486363,;	700	489	227	SUCCESS
PDXP	57026	.	GRCh37	22	38055327	38055327	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	47	0	ENST00000215904.6:c.538C>A	p.Pro180Thr	p.P180T	ENST00000215904	NM_020315.4	180	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS13953.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCCATGG	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF32,TIGRFAM_domain:TIGR01452,Gene3D:3.40.50.10410,TIGRFAM_domain:TIGR01460,PIRSF_domain:PIRSF000915,Superfamily_domains:SSF56784	.	.	ENSP00000215904	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000215904	Transcript	.	.	ENSG00000241360	30259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.77)	.	PLPP_HUMAN	PDXP	HGNC	B1AHD3_HUMAN	.	UPI000006D362	SNV	PDXP,missense_variant,p.Pro180Thr,ENST00000215904,;SH3BP1,intron_variant,,ENST00000599616,;SH3BP1,downstream_gene_variant,,ENST00000357436,;Z83844.1,upstream_gene_variant,,ENST00000456099,;SH3BP1,intron_variant,,ENST00000451997,;SH3BP1,downstream_gene_variant,,ENST00000417536,;SH3BP1,downstream_gene_variant,,ENST00000469947,;	594	47	19	SUCCESS
POTEF	728378	.	GRCh37	2	130872903	130872903	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	rs779705353	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	214	44	270	0	ENST00000357462.5:c.522-2A>T		p.X174_splice	ENST00000357462		174		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46409.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTATGAG	NONE	.	.	.	.	.	ENSP00000350052	.	.	.	.	.	.	.	.	.	.	rs779705353	.	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	HIGH	1/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,splice_acceptor_variant,,ENST00000361163,;POTEF,splice_acceptor_variant,,ENST00000357462,;POTEF,splice_acceptor_variant,,ENST00000360967,;POTEF,splice_acceptor_variant,,ENST00000409914,;	.	270	259	SUCCESS
LRP2	4036	.	GRCh37	2	170099496	170099496	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	96	0	ENST00000263816.3:c.3637T>G	p.Cys1213Gly	p.C1213G	ENST00000263816	NM_004525.2	1213	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS2232.1	3637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAATCAA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000263816	.	24/79	.	.	.	.	.	.	.	.	.	24/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Cys1213Gly,ENST00000263816,;LRP2,missense_variant,p.Cys1076Gly,ENST00000443831,;	3923	96	92	SUCCESS
CCDC108	0	.	GRCh37	2	219886575	219886575	+	synonymous_variant	Silent	SNP	G	G	A	rs552052317	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	9	221	0	ENST00000341552.5:c.3057C>T	p.Asp1019=	p.D1019=	ENST00000341552	NM_194302.3	1019	gaC/gaT	0	.	A:0.0008	.	A:0	.	A	D	protein_coding	YES	CCDS2430.2	3057	MUTECT|MUSE	.	TTGCCGTCATT	NONE	by1000G	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	A:0	.	ENSP00000340776	A:0	18/35	.	.	.	.	.	.	.	.	rs552052317	18/35	PASS	ENST00000341552	Transcript	.	A:0.0002	ENSG00000181378	25325	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,synonymous_variant,p.%3D,ENST00000453220,;CCDC108,synonymous_variant,p.%3D,ENST00000341552,;CCDC108,synonymous_variant,p.%3D,ENST00000441968,;CCDC108,upstream_gene_variant,,ENST00000413871,;CCDC108,downstream_gene_variant,,ENST00000462848,;CCDC108,downstream_gene_variant,,ENST00000474601,;CCDC108,downstream_gene_variant,,ENST00000463683,;	3141	221	201	SUCCESS
SERPINE2	5270	.	GRCh37	2	224866386	224866386	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769734047	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	49	0	ENST00000258405.4:c.232G>A	p.Ala78Thr	p.A78T	ENST00000258405	NM_001136528.1	78	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46525.1	268	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCGAGCT	NONE	byFrequency	.	hmmpanther:PTHR11461:SF48,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000415786	.	2/9	.	.	.	.	.	.	.	.	rs769734047	2/9	PASS	ENST00000447280	Transcript	.	.	ENSG00000135919	8951	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.71)	.	GDN_HUMAN	SERPINE2	HGNC	C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN,B4DMR3_HUMAN	.	UPI00017A7317	SNV	SERPINE2,missense_variant,p.Ala78Thr,ENST00000432738,;SERPINE2,missense_variant,p.Ala78Thr,ENST00000409304,;SERPINE2,missense_variant,p.Ala78Thr,ENST00000454956,;SERPINE2,missense_variant,p.Ala78Thr,ENST00000409840,;SERPINE2,missense_variant,p.Ala90Thr,ENST00000447280,;SERPINE2,missense_variant,p.Ala78Thr,ENST00000258405,;SERPINE2,downstream_gene_variant,,ENST00000423446,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000489065,;	569	49	43	SUCCESS
SNX17	9784	.	GRCh37	2	27596783	27596783	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	36	175	0	ENST00000233575.2:c.377G>A	p.Gly126Glu	p.G126E	ENST00000233575	NM_001267059.1	126	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS1750.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGGGCAGA	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF16	.	.	ENSP00000233575	.	5/15	.	.	.	.	.	.	.	.	COSM1019662	5/15	PASS	ENST00000233575	Transcript	.	.	ENSG00000115234	14979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.696)	.	deleterious(0.02)	1	SNX17_HUMAN	SNX17	HGNC	B4DTB8_HUMAN,B4DLL7_HUMAN,B4DDM3_HUMAN	.	UPI0000135B4E	SNV	SNX17,missense_variant,p.Gly101Glu,ENST00000537606,;SNX17,missense_variant,p.Gly126Glu,ENST00000233575,;SNX17,5_prime_UTR_variant,,ENST00000542478,;SNX17,5_prime_UTR_variant,,ENST00000543024,;EIF2B4,upstream_gene_variant,,ENST00000445933,;ZNF513,downstream_gene_variant,,ENST00000407879,;EIF2B4,upstream_gene_variant,,ENST00000493344,;EIF2B4,upstream_gene_variant,,ENST00000347454,;ZNF513,downstream_gene_variant,,ENST00000323703,;ZNF513,downstream_gene_variant,,ENST00000436006,;EIF2B4,upstream_gene_variant,,ENST00000451130,;ZNF513,downstream_gene_variant,,ENST00000491924,;SNX17,missense_variant,p.Gly62Ser,ENST00000453453,;SNX17,3_prime_UTR_variant,,ENST00000440760,;SNX17,3_prime_UTR_variant,,ENST00000427123,;SNX17,non_coding_transcript_exon_variant,,ENST00000494893,;SNX17,upstream_gene_variant,,ENST00000493711,;SNX17,downstream_gene_variant,,ENST00000484886,;SNX17,downstream_gene_variant,,ENST00000464279,;EIF2B4,upstream_gene_variant,,ENST00000418146,;EIF2B4,upstream_gene_variant,,ENST00000475582,;EIF2B4,upstream_gene_variant,,ENST00000462749,;SNX17,downstream_gene_variant,,ENST00000489402,;EIF2B4,upstream_gene_variant,,ENST00000405940,;	599	175	110	SUCCESS
MEMO1	51072	.	GRCh37	2	32157198	32157198	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	132	231	0	ENST00000295065.5:c.150A>G	p.Ala50=	p.A50=	ENST00000295065	NM_015955.2	50	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS1776.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTGCATG	NONE	.	.	HAMAP:MF_00055,hmmpanther:PTHR11060:SF0,hmmpanther:PTHR11060,Pfam_domain:PF01875,TIGRFAM_domain:TIGR04336	.	.	ENSP00000295065	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000295065	Transcript	.	.	ENSG00000162959	14014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEMO1_HUMAN	MEMO1	HGNC	C9JSD7_HUMAN	.	UPI0000001C55	SNV	MEMO1,synonymous_variant,p.%3D,ENST00000295065,;MEMO1,synonymous_variant,p.%3D,ENST00000407893,;MEMO1,synonymous_variant,p.%3D,ENST00000379383,;MEMO1,synonymous_variant,p.%3D,ENST00000404530,;MEMO1,intron_variant,,ENST00000426310,;MEMO1,non_coding_transcript_exon_variant,,ENST00000413686,;DPY30,non_coding_transcript_exon_variant,,ENST00000446765,;MEMO1,non_coding_transcript_exon_variant,,ENST00000490459,;MEMO1,intron_variant,,ENST00000422936,;	460	231	347	SUCCESS
BIRC6	57448	.	GRCh37	2	32822997	32822997	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	27	0	ENST00000421745.2:c.13792T>G	p.Phe4598Val	p.F4598V	ENST00000421745	NM_016252.3	4598	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS33175.2	13792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGTTTGTA	NONE	.	.	Superfamily_domains:SSF54495,SMART_domains:SM00212,Pfam_domain:PF00179,Gene3D:3.10.110.10,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93,PROSITE_profiles:PS50127	.	.	ENSP00000393596	.	69/74	.	.	.	.	.	.	.	.	.	69/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Phe4598Val,ENST00000421745,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;BIRC6,downstream_gene_variant,,ENST00000470250,;BIRC6,upstream_gene_variant,,ENST00000465130,;	13926	27	39	SUCCESS
EGR4	1961	.	GRCh37	2	73519846	73519846	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	249	0	ENST00000545030.1:c.509G>C	p.Cys170Ser	p.C170S	ENST00000545030	NM_001965.3	170	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS1925.2	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCAGGAG	NONE	.	.	hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF1	.	.	ENSP00000445626	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000545030	Transcript	.	.	ENSG00000135625	3241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.19)	.	EGR4_HUMAN	EGR4	HGNC	B7ZKU3_HUMAN	.	UPI0000EE25D4	SNV	EGR4,missense_variant,p.Cys170Ser,ENST00000545030,;EGR4,missense_variant,p.Cys67Ser,ENST00000436467,;	584	249	117	SUCCESS
ALG1L2	644974	.	GRCh37	3	129813246	129813246	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	106	0	ENST00000425059.1:n.500G>A		p.X167_splice	ENST00000425059		167		0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGCAAAG	NONE	.	1970	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000578837	Transcript	.	.	ENSG00000266849	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC083906.2	Clone_based_ensembl_gene	.	.	.	SNV	AC083906.2,upstream_gene_variant,,ENST00000578837,;RP11-93K22.13,upstream_gene_variant,,ENST00000514010,;ALG1L2,splice_region_variant,,ENST00000511726,;ALG1L2,splice_region_variant,,ENST00000503500,;ALG1L2,splice_region_variant,,ENST00000507643,;FAM86HP,downstream_gene_variant,,ENST00000511564,;ALG1L2,splice_region_variant,,ENST00000506370,;ALG1L2,splice_region_variant,,ENST00000425059,;FAM86HP,downstream_gene_variant,,ENST00000513466,;	.	106	43	SUCCESS
EIF4A2	1974	.	GRCh37	3	186502787	186502787	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	114	0	ENST00000323963.5:c.245G>C	p.Gly82Ala	p.G82A	ENST00000323963		82	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS3282.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGGCAAGA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF226,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487	.	.	ENSP00000326381	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,missense_variant,p.Gly82Ala,ENST00000445596,;EIF4A2,missense_variant,p.Gly82Ala,ENST00000323963,;EIF4A2,missense_variant,p.Gly83Ala,ENST00000440191,;EIF4A2,missense_variant,p.Gly65Ala,ENST00000498746,;EIF4A2,intron_variant,,ENST00000356531,;RFC4,downstream_gene_variant,,ENST00000296273,;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000441007,;RFC4,downstream_gene_variant,,ENST00000392481,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA81,upstream_gene_variant,,ENST00000408493,;SNORA63,upstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,missense_variant,p.Gly82Ala,ENST00000425053,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465032,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465222,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465267,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000486805,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,intron_variant,,ENST00000495049,;EIF4A2,intron_variant,,ENST00000426808,;EIF4A2,intron_variant,,ENST00000475653,;EIF4A2,intron_variant,,ENST00000443963,;EIF4A2,intron_variant,,ENST00000467585,;EIF4A2,intron_variant,,ENST00000429589,;EIF4A2,upstream_gene_variant,,ENST00000497177,;EIF4A2,upstream_gene_variant,,ENST00000475409,;EIF4A2,downstream_gene_variant,,ENST00000491473,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,upstream_gene_variant,,ENST00000468362,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,upstream_gene_variant,,ENST00000465792,;EIF4A2,upstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000492144,;EIF4A2,upstream_gene_variant,,ENST00000461021,;EIF4A2,upstream_gene_variant,,ENST00000494445,;	309	114	79	SUCCESS
TMEM207	131920	.	GRCh37	3	190167544	190167544	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	49	0	ENST00000354905.2:c.55T>G	p.Leu19Val	p.L19V	ENST00000354905	NM_207316.1	19	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS3297.1	55	RADIA|MUTECT|MUSE	.	ACACAAGATCC	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM	.	.	ENSP00000346981	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000354905	Transcript	.	.	ENSG00000198398	33705	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.215)	.	tolerated(0.07)	.	TM207_HUMAN	TMEM207	HGNC	.	.	UPI0000048F12	SNV	TMEM207,missense_variant,p.Leu19Val,ENST00000354905,;	122	49	71	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913412	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	26	63	0	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2694.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTACCACA	SITE|p.T41A|c.121A>G|828,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T40I|c.119C>T|11,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5664,COSM5688,COSM5716	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	401	63	125	SUCCESS
LARS2	23395	.	GRCh37	3	45517966	45517966	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	68	129	0	ENST00000265537.3:c.865G>C	p.Gly289Arg	p.G289R	ENST00000265537	NM_015340.3	289	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS2728.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGGGCAA	NONE	.	.	hmmpanther:PTHR11946:SF7,hmmpanther:PTHR11946,Gene3D:3.90.740.10,TIGRFAM_domain:TIGR00396,Pfam_domain:PF00133,Superfamily_domains:SSF50677	.	.	ENSP00000408576	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000415258	Transcript	.	.	ENSG00000011376	17095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.03)	.	SYLM_HUMAN	LARS2	HGNC	Q9BQR0_HUMAN,C9JYR8_HUMAN	.	UPI0000001297	SNV	LARS2,missense_variant,p.Gly246Arg,ENST00000414984,;LARS2,missense_variant,p.Gly289Arg,ENST00000265537,;LARS2,missense_variant,p.Gly289Arg,ENST00000415258,;	1006	129	236	SUCCESS
OR5H6	79295	.	GRCh37	3	97983253	97983253	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs36040433	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	47	57	0	ENST00000383696.2:c.125C>T	p.Pro42Leu	p.P42L	ENST00000383696	NM_001005479.1	42	cCg/cTg	0	T:0.0025	T:0.0045	.	T:0	.	T	P/L	protein_coding	YES	CCDS33800.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACCGCTCT	NONE	byFrequency|byCluster|by1000G	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF231,hmmpanther:PTHR26452	T:0	T:0.0003	ENSP00000373196	T:0	1/1	.	.	.	.	.	.	.	.	rs36040433,COSM585096	1/1	common_in_exac	ENST00000383696	Transcript	.	T:0.0012	ENSG00000230301	14767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	T:0	tolerated(0.75)	0,1	OR5H6_HUMAN	OR5H6	HGNC	.	.	UPI000004B1EC	SNV	OR5H6,missense_variant,p.Pro42Leu,ENST00000383696,;RP11-325B23.2,intron_variant,,ENST00000508616,;	166	57	126	SUCCESS
ANK2	287	.	GRCh37	4	114276704	114276704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	57	0	ENST00000357077.4:c.6930G>T	p.Glu2310Asp	p.E2310D	ENST00000357077	NM_001148.4	2310	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3702.1	6930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGGCCAC	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Glu2277Asp,ENST00000264366,;ANK2,missense_variant,p.Glu2310Asp,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	6983	57	90	SUCCESS
RNF150	57484	.	GRCh37	4	142053651	142053651	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	43	293	0	ENST00000515673.2:c.312C>A	p.Pro104=	p.P104=	ENST00000515673		104	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34065.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTGGGGTC	NONE	.	.	hmmpanther:PTHR22765:SF42,hmmpanther:PTHR22765,Pfam_domain:PF02225,Gene3D:3.50.30.30,Superfamily_domains:SSF52025	.	.	ENSP00000425840	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000515673	Transcript	.	.	ENSG00000170153	23138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN150_HUMAN	RNF150	HGNC	D6RIE5_HUMAN	.	UPI00004C9B0C	SNV	RNF150,synonymous_variant,p.%3D,ENST00000306799,;RNF150,synonymous_variant,p.%3D,ENST00000507500,;RNF150,synonymous_variant,p.%3D,ENST00000515673,;RNF150,intron_variant,,ENST00000420921,;	346	293	169	SUCCESS
GRK4	2868	.	GRCh37	4	2986240	2986240	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	379	12	511	0	ENST00000398052.4:c.53G>A	p.Gly18Glu	p.G18E	ENST00000398052	NM_182982.2	18	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS33946.1	53	MUTECT|MUSE	.	TTCAGGAGGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24355:SF14,hmmpanther:PTHR24355	.	.	ENSP00000381129	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000398052	Transcript	.	.	ENSG00000125388	4543	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.202)	.	deleterious(0)	.	GRK4_HUMAN	GRK4	HGNC	.	.	UPI000042B0BE	SNV	GRK4,missense_variant,p.Gly18Glu,ENST00000398052,;GRK4,missense_variant,p.Gly18Glu,ENST00000504933,;GRK4,intron_variant,,ENST00000345167,;GRK4,intron_variant,,ENST00000398051,;	396	511	391	SUCCESS
EVC2	132884	.	GRCh37	4	5620331	5620331	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	8	141	0	ENST00000344408.5:c.2580T>C	p.Ala860=	p.A860=	ENST00000344408	NM_147127.4	860	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3382.2	2580	MUTECT|MUSE	.	ATCTGAGCAAA	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,synonymous_variant,p.%3D,ENST00000344938,;EVC2,synonymous_variant,p.%3D,ENST00000310917,;EVC2,synonymous_variant,p.%3D,ENST00000344408,;EVC2,synonymous_variant,p.%3D,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	2634	141	149	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6107374	6107374	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	71	0	ENST00000282924.5:c.450G>A	p.Arg150=	p.R150=	ENST00000282924	NM_144720.3	150	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47005.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCCGCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,synonymous_variant,p.%3D,ENST00000409021,;JAKMIP1,synonymous_variant,p.%3D,ENST00000409831,;JAKMIP1,synonymous_variant,p.%3D,ENST00000282924,;JAKMIP1,intron_variant,,ENST00000409371,;JAKMIP1,intron_variant,,ENST00000410077,;JAKMIP1,intron_variant,,ENST00000457227,;JAKMIP1,synonymous_variant,p.%3D,ENST00000473053,;	900	71	47	SUCCESS
APC	324	.	GRCh37	5	112173329	112173329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	73	0	ENST00000257430.4:c.2038G>T	p.Ala680Ser	p.A680S	ENST00000257430	NM_000038.5	680	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4107.1	2038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATGCATGT	BUFFER|p.G682*|c.2044G>T|3	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Ala680Ser,ENST00000257430,;APC,missense_variant,p.Ala680Ser,ENST00000457016,;APC,missense_variant,p.Ala662Ser,ENST00000507379,;APC,missense_variant,p.Ala680Ser,ENST00000508376,;APC,missense_variant,p.Ala680Ser,ENST00000512211,;APC,missense_variant,p.Ala243Ser,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,non_coding_transcript_exon_variant,,ENST00000502371,;APC,non_coding_transcript_exon_variant,,ENST00000514164,;CTC-554D6.1,intron_variant,,ENST00000520401,;	2418	73	114	SUCCESS
MEGF10	84466	.	GRCh37	5	126791174	126791174	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	133	114	1	ENST00000274473.6:c.3107C>T	p.Pro1036Leu	p.P1036L	ENST00000274473	NM_032446.2	1036	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4142.1	3107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCACCTG	NONE	.	.	hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75	.	.	ENSP00000274473	.	25/26	.	.	.	.	.	.	.	.	COSM325797	25/26	PASS	ENST00000274473	Transcript	1	.	ENSG00000145794	29634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	tolerated(0.21)	1	MEG10_HUMAN	MEGF10	HGNC	.	.	UPI000006F868	SNV	MEGF10,missense_variant,p.Pro1036Leu,ENST00000274473,;MEGF10,missense_variant,p.Pro1036Leu,ENST00000503335,;MEGF10,non_coding_transcript_exon_variant,,ENST00000515622,;MEGF10,non_coding_transcript_exon_variant,,ENST00000510828,;	3374	115	301	SUCCESS
RAD50	10111	.	GRCh37	5	131939116	131939116	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1554099107	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	87	162	0	ENST00000265335.6:c.2332A>G	p.Ile778Val	p.I778V	ENST00000265335		778	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34233.1	2332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAATAATG	NONE	.	.	hmmpanther:PTHR18867:SF12,hmmpanther:PTHR18867,TIGRFAM_domain:TIGR00606	.	.	ENSP00000265335	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000265335	Transcript	1	.	ENSG00000113522	9816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.35)	.	RAD50_HUMAN	RAD50	HGNC	C9JNH8_HUMAN,A8K3I2_HUMAN	.	UPI000006E9ED	SNV	RAD50,missense_variant,p.Ile639Val,ENST00000378823,;RAD50,missense_variant,p.Ile778Val,ENST00000265335,;RAD50,non_coding_transcript_exon_variant,,ENST00000489420,;RAD50,downstream_gene_variant,,ENST00000496204,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,3_prime_UTR_variant,,ENST00000423956,;	2719	162	314	SUCCESS
BTNL9	153579	.	GRCh37	5	180486695	180486695	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755536857	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	157	0	ENST00000327705.9:c.1441G>A	p.Ala481Thr	p.A481T	ENST00000327705	NM_152547.4	481	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4460.2	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGCGCTC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF50,hmmpanther:PTHR24100,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000330200	.	11/11	.	.	.	.	.	.	.	.	rs755536857	11/11	PASS	ENST00000327705	Transcript	.	.	ENSG00000165810	24176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.39)	.	BTNL9_HUMAN	BTNL9	HGNC	Q8N324_HUMAN	.	UPI000004C620	SNV	BTNL9,missense_variant,p.Ala481Thr,ENST00000327705,;BTNL9,missense_variant,p.Ala482Thr,ENST00000376842,;BTNL9,downstream_gene_variant,,ENST00000376841,;BTNL9,downstream_gene_variant,,ENST00000491209,;BTNL9,downstream_gene_variant,,ENST00000512570,;BTNL9,downstream_gene_variant,,ENST00000506782,;BTNL9,downstream_gene_variant,,ENST00000511056,;	1672	157	86	SUCCESS
GRIK2	2898	.	GRCh37	6	102134116	102134116	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	41	53	0	ENST00000421544.1:c.839del	p.Arg280LysfsTer3	p.R280Kfs*3	ENST00000421544	NM_021956.4	280	aGa/aa	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS5048.1	839	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTCAGAATAT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000397026	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	deletion	GRIK2,frameshift_variant,p.Arg280LysfsTer3,ENST00000369138,;GRIK2,frameshift_variant,p.Arg280LysfsTer3,ENST00000413795,;GRIK2,frameshift_variant,p.Arg231LysfsTer3,ENST00000369134,;GRIK2,frameshift_variant,p.Arg280LysfsTer3,ENST00000369137,;GRIK2,frameshift_variant,p.Arg280LysfsTer3,ENST00000318991,;GRIK2,frameshift_variant,p.Arg280LysfsTer3,ENST00000421544,;GRIK2,frameshift_variant,p.Arg280LysfsTer3,ENST00000358361,;GRIK2,intron_variant,,ENST00000455610,;	1329	53	170	SUCCESS
REV3L	5980	.	GRCh37	6	111695908	111695908	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	20	0	ENST00000358835.3:c.3650A>C	p.Lys1217Thr	p.K1217T	ENST00000358835		1217	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS5091.2	3650	RADIA|MUTECT|MUSE	.	TACCTTTCTCA	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.293)	.	tolerated_low_confidence(0.09)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Lys1139Thr,ENST00000435970,;REV3L,missense_variant,p.Lys1217Thr,ENST00000358835,;REV3L,missense_variant,p.Lys1217Thr,ENST00000368802,;REV3L,missense_variant,p.Lys1217Thr,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	4105	20	46	SUCCESS
CYP21A1P	1590	.	GRCh37	6	31975232	31975232	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	832	175	1946	0	ENST00000342991.6:n.1355G>A		p.*452*	ENST00000342991				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47404.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGCTTCA	NONE	.	4774	.	.	.	ENSP00000396688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428956	Transcript	.	.	ENSG00000244731	1323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A_HUMAN	C4A	HGNC	Q9UMV1_HUMAN,Q9UM89_HUMAN,Q6U2K2_HUMAN,Q6U2E7_HUMAN,Q6U2E0_HUMAN	.	UPI00001AF648	SNV	C4A,downstream_gene_variant,,ENST00000498271,;C4A,downstream_gene_variant,,ENST00000428956,;AL645922.1,upstream_gene_variant,,ENST00000594256,;C4A-AS1,upstream_gene_variant,,ENST00000458633,;CYP21A1P,non_coding_transcript_exon_variant,,ENST00000342991,;C4A,downstream_gene_variant,,ENST00000491876,;C4A,downstream_gene_variant,,ENST00000463034,;C4A,downstream_gene_variant,,ENST00000469975,;CYP21A1P,non_coding_transcript_exon_variant,,ENST00000354927,;TNXA,downstream_gene_variant,,ENST00000507684,;	.	1947	1007	SUCCESS
FANCE	2178	.	GRCh37	6	35434031	35434031	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	89	0	ENST00000229769.2:c.1520C>G	p.Thr507Ser	p.T507S	ENST00000229769	NM_021922.2	507	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS4805.1	1520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGACCCAGA	NONE	.	.	hmmpanther:PTHR32094,Pfam_domain:PF11510	.	.	ENSP00000229769	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000229769	Transcript	.	.	ENSG00000112039	3586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.15)	.	FANCE_HUMAN	FANCE	HGNC	.	.	UPI000000DB76	SNV	FANCE,missense_variant,p.Thr507Ser,ENST00000229769,;RPL10A,upstream_gene_variant,,ENST00000322203,;RPL10A,upstream_gene_variant,,ENST00000464112,;RPL10A,upstream_gene_variant,,ENST00000490335,;RPL10A,upstream_gene_variant,,ENST00000478340,;RPL10A,upstream_gene_variant,,ENST00000467020,;	1705	89	73	SUCCESS
DDX43	55510	.	GRCh37	6	74123695	74123695	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs144361613	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	73	362	1	ENST00000370336.4:c.1499C>T	p.Ala500Val	p.A500V	ENST00000370336	NM_018665.2	500	gCg/gTg	0	T:0.0002	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS4977.1	1499	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGGATC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR24031:SF225,hmmpanther:PTHR24031,PROSITE_profiles:PS51194	T:0	T:0.0007	ENSP00000359361	T:0.003	13/17	.	.	.	.	.	.	.	.	rs144361613	13/17	common_in_exac	ENST00000370336	Transcript	.	T:0.0006	ENSG00000080007	18677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.738)	T:0	tolerated(0.22)	.	DDX43_HUMAN	DDX43	HGNC	.	.	UPI000013CA60	SNV	DDX43,missense_variant,p.Ala500Val,ENST00000370336,;MB21D1,3_prime_UTR_variant,,ENST00000370318,;DDX43,splice_region_variant,,ENST00000479773,;	1657	363	238	SUCCESS
VWDE	221806	.	GRCh37	7	12376619	12376619	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	98	0	ENST00000275358.3:c.4553A>C	p.Asn1518Thr	p.N1518T	ENST00000275358	NM_001135924.1	1518	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS47544.1	4553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGTTGCAT	NONE	.	.	SMART_domains:SM00181,Gene3D:2gy5A03,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67,PROSITE_profiles:PS50026	.	.	ENSP00000275358	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0.01)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Asn1518Thr,ENST00000275358,;VWDE,3_prime_UTR_variant,,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;VWDE,upstream_gene_variant,,ENST00000485526,;	4742	98	113	SUCCESS
VWDE	221806	.	GRCh37	7	12428766	12428766	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	74	0	ENST00000275358.3:c.462C>A	p.Gly154=	p.G154=	ENST00000275358	NM_001135924.1	154	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS47544.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAGCCCAT	NONE	.	.	.	.	.	ENSP00000275358	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,synonymous_variant,p.%3D,ENST00000275358,;VWDE,synonymous_variant,p.%3D,ENST00000452576,;VWDE,synonymous_variant,p.%3D,ENST00000326715,;VWDE,synonymous_variant,p.%3D,ENST00000521169,;	651	74	87	SUCCESS
SLC4A2	6522	.	GRCh37	7	150761796	150761796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	224	0	ENST00000413384.2:c.401C>T	p.Ala134Val	p.A134V	ENST00000413384	NM_003040.3	134	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5917.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGCTGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14	.	.	ENSP00000419412	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000485713	Transcript	.	.	ENSG00000164889	11028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.26)	.	B3A2_HUMAN	SLC4A2	HGNC	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN	.	UPI000013EFE9	SNV	SLC4A2,missense_variant,p.Ala134Val,ENST00000485713,;SLC4A2,missense_variant,p.Ala134Val,ENST00000490898,;SLC4A2,missense_variant,p.Ala134Val,ENST00000483786,;SLC4A2,missense_variant,p.Ala125Val,ENST00000392826,;SLC4A2,missense_variant,p.Ala52Val,ENST00000310317,;SLC4A2,missense_variant,p.Ala120Val,ENST00000461735,;SLC4A2,missense_variant,p.Ala134Val,ENST00000413384,;SLC4A2,missense_variant,p.Ala134Val,ENST00000463414,;SLC4A2,downstream_gene_variant,,ENST00000488420,;SLC4A2,downstream_gene_variant,,ENST00000482950,;SLC4A2,downstream_gene_variant,,ENST00000466368,;SLC4A2,downstream_gene_variant,,ENST00000494125,;	1441	224	114	SUCCESS
OSBPL3	26031	.	GRCh37	7	24911674	24911674	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	77	0	ENST00000313367.2:c.111G>A	p.Val37=	p.V37=	ENST00000313367	NM_015550.2	37	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5390.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCACTTC	NONE	.	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15	.	.	ENSP00000315410	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000313367	Transcript	.	.	ENSG00000070882	16370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL3_HUMAN	OSBPL3	HGNC	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN	.	UPI0000001244	SNV	OSBPL3,synonymous_variant,p.%3D,ENST00000415162,;OSBPL3,synonymous_variant,p.%3D,ENST00000431825,;OSBPL3,synonymous_variant,p.%3D,ENST00000396429,;OSBPL3,synonymous_variant,p.%3D,ENST00000415952,;OSBPL3,synonymous_variant,p.%3D,ENST00000352860,;OSBPL3,synonymous_variant,p.%3D,ENST00000441059,;OSBPL3,synonymous_variant,p.%3D,ENST00000409069,;OSBPL3,synonymous_variant,p.%3D,ENST00000353930,;OSBPL3,synonymous_variant,p.%3D,ENST00000313367,;OSBPL3,synonymous_variant,p.%3D,ENST00000396431,;OSBPL3,synonymous_variant,p.%3D,ENST00000409555,;OSBPL3,synonymous_variant,p.%3D,ENST00000409452,;OSBPL3,synonymous_variant,p.%3D,ENST00000409863,;OSBPL3,synonymous_variant,p.%3D,ENST00000409759,;	563	77	86	SUCCESS
NPC1L1	29881	.	GRCh37	7	44575496	44575496	+	synonymous_variant	Silent	SNP	G	G	A	rs200986707	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	93	0	ENST00000289547.4:c.1926C>T	p.Val642=	p.V642=	ENST00000289547	NM_013389.2	642	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5491.1	1926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATGACAAT	NONE	byCluster	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF82866,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89,PROSITE_profiles:PS50156	.	.	ENSP00000289547	.	5/20	.	.	.	.	.	.	.	.	rs200986707	5/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,synonymous_variant,p.%3D,ENST00000546276,;NPC1L1,synonymous_variant,p.%3D,ENST00000381160,;NPC1L1,synonymous_variant,p.%3D,ENST00000423141,;NPC1L1,synonymous_variant,p.%3D,ENST00000289547,;	1982	93	64	SUCCESS
TNRC18	84629	.	GRCh37	7	5352545	5352545	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	92	0	ENST00000430969.1:c.7977C>A	p.Ser2659=	p.S2659=	ENST00000430969	NM_001080495.2	2659	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47534.1	7977	MUTECT|MUSE	.	GAGGAGGATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,synonymous_variant,p.%3D,ENST00000430969,;TNRC18,synonymous_variant,p.%3D,ENST00000399537,;TNRC18,downstream_gene_variant,,ENST00000328270,;	8326	93	43	SUCCESS
RSPH10B2	728194	.	GRCh37	7	6836421	6836421	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	9	274	0	ENST00000297186.3:c.2432+24C>G		p.*811*	ENST00000297186				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43552.1	.	MUTECT|MUSE	.	CCTCTCCTTCC	NONE	.	.	.	.	.	ENSP00000384766	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403107	Transcript	.	.	ENSG00000169402	34385	.	.	MODIFIER	19/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	R10B2_HUMAN	RSPH10B2	HGNC	C9JJN2_HUMAN	.	UPI000020EAF6	SNV	RSPH10B2,intron_variant,,ENST00000404077,;RSPH10B2,intron_variant,,ENST00000359718,;RSPH10B2,intron_variant,,ENST00000403107,;RSPH10B2,intron_variant,,ENST00000297186,;RSPH10B2,intron_variant,,ENST00000433859,;CCZ1B,downstream_gene_variant,,ENST00000316731,;CCZ1B,downstream_gene_variant,,ENST00000538180,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000597208,;RSPH10B2,non_coding_transcript_exon_variant,,ENST00000463354,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000429267,;CCZ1B,downstream_gene_variant,,ENST00000481830,;CCZ1B,downstream_gene_variant,,ENST00000472464,;RSPH10B2,intron_variant,,ENST00000485920,;CCZ1B,downstream_gene_variant,,ENST00000468078,;CCZ1B,downstream_gene_variant,,ENST00000467004,;	.	274	235	SUCCESS
ADAM22	53616	.	GRCh37	7	87564416	87564416	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	36	185	1	ENST00000265727.7:c.161G>A	p.Arg54His	p.R54H	ENST00000265727		54	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47637.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGCCTCA	NONE	.	.	hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905	.	.	ENSP00000265727	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000265727	Transcript	.	.	ENSG00000008277	201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ADA22_HUMAN	ADAM22	HGNC	Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN	.	UPI00001254DC	SNV	ADAM22,missense_variant,p.Arg54His,ENST00000439864,;ADAM22,missense_variant,p.Arg54His,ENST00000398209,;ADAM22,missense_variant,p.Arg54His,ENST00000412441,;ADAM22,missense_variant,p.Arg21His,ENST00000398203,;ADAM22,missense_variant,p.Arg54His,ENST00000315984,;ADAM22,missense_variant,p.Arg54His,ENST00000265727,;ADAM22,missense_variant,p.Arg54His,ENST00000398201,;ADAM22,missense_variant,p.Arg54His,ENST00000398204,;	240	186	130	SUCCESS
AARD	441376	.	GRCh37	8	117950650	117950650	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	139	0	ENST00000378279.3:c.168G>A	p.Leu56=	p.L56=	ENST00000378279	NM_001025357.2	56	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34935.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGGAGGA	NONE	.	.	hmmpanther:PTHR32289:SF2,hmmpanther:PTHR32289	.	.	ENSP00000367528	.	1/2	.	.	.	.	.	.	.	.	COSM403045	1/2	PASS	ENST00000378279	Transcript	.	.	ENSG00000205002	33842	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	AARD_HUMAN	AARD	HGNC	.	.	UPI0000419472	SNV	AARD,synonymous_variant,p.%3D,ENST00000378279,;AARD,upstream_gene_variant,,ENST00000523536,;	213	139	85	SUCCESS
TG	7038	.	GRCh37	8	133911108	133911108	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	129	0	ENST00000220616.4:c.3283C>T	p.Gln1095Ter	p.Q1095*	ENST00000220616	NM_003235.4	1095	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34944.1	3283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCCAAGAA	NONE	.	.	Superfamily_domains:SSF57610,PIRSF_domain:PIRSF001831,Pfam_domain:PF00086,Gene3D:4.10.800.10,PROSITE_profiles:PS51162	.	.	ENSP00000220616	.	14/48	.	.	.	.	.	.	.	.	COSM78638	14/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,stop_gained,p.Gln1095Ter,ENST00000220616,;TG,stop_gained,p.Gln1095Ter,ENST00000377869,;TG,stop_gained,p.Gln62Ter,ENST00000518505,;TG,stop_gained,p.Gln82Ter,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000518097,;	3323	129	102	SUCCESS
TOP1MT	116447	.	GRCh37	8	144406772	144406772	+	synonymous_variant	Silent	SNP	C	C	A	rs757175955	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	86	0	ENST00000329245.4:c.699G>T	p.Ala233=	p.A233=	ENST00000329245	NM_052963.2	233	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6400.1	699	RADIA|MUTECT|MUSE	.	TGCCCCGCCGG	NONE	byFrequency	.	hmmpanther:PTHR10290,Gene3D:2.170.11.10,Pfam_domain:PF02919,SMART_domains:SM00435,Superfamily_domains:SSF56741	.	.	ENSP00000328835	.	6/14	.	.	.	.	.	.	.	.	rs757175955	6/14	PASS	ENST00000329245	Transcript	.	.	ENSG00000184428	29787	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TOP1M_HUMAN	TOP1MT	HGNC	E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN	.	UPI000013716D	SNV	TOP1MT,synonymous_variant,p.%3D,ENST00000522041,;TOP1MT,synonymous_variant,p.%3D,ENST00000523676,;TOP1MT,synonymous_variant,p.%3D,ENST00000519148,;TOP1MT,synonymous_variant,p.%3D,ENST00000519591,;TOP1MT,synonymous_variant,p.%3D,ENST00000521193,;TOP1MT,synonymous_variant,p.%3D,ENST00000329245,;TOP1MT,synonymous_variant,p.%3D,ENST00000519139,;TOP1MT,downstream_gene_variant,,ENST00000522043,;TOP1MT,downstream_gene_variant,,ENST00000520950,;TOP1MT,downstream_gene_variant,,ENST00000518760,;TOP1MT,downstream_gene_variant,,ENST00000518007,;TOP1MT,3_prime_UTR_variant,,ENST00000518951,;TOP1MT,downstream_gene_variant,,ENST00000523417,;TOP1MT,downstream_gene_variant,,ENST00000522121,;	734	86	35	SUCCESS
EPPK1	83481	.	GRCh37	8	144940679	144940679	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782751226	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	86	0	ENST00000525985.1:c.6743C>A	p.Ala2248Asp	p.A2248D	ENST00000525985	NM_031308.2	2248	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	.	6743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGCCTGG	NONE	byFrequency	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	rs782751226	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.Ala2248Asp,ENST00000525985,;	6815	86	51	SUCCESS
TNFRSF10B	8795	.	GRCh37	8	22885267	22885267	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	71	0	ENST00000276431.4:c.749-1G>A		p.X250_splice	ENST00000276431	NM_147187.2	250		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6035.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCTAAAA	NONE	.	.	.	.	.	ENSP00000276431	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000276431	Transcript	1	.	ENSG00000120889	11905	.	.	HIGH	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR10B_HUMAN	TNFRSF10B	HGNC	Q9BY82_HUMAN,B7Z3M7_HUMAN	.	UPI000013DAC6	SNV	TNFRSF10B,splice_acceptor_variant,,ENST00000347739,;TNFRSF10B,splice_acceptor_variant,,ENST00000276431,;TNFRSF10B,splice_acceptor_variant,,ENST00000542226,;TNFRSF10B,downstream_gene_variant,,ENST00000519910,;TNFRSF10B,splice_acceptor_variant,,ENST00000523504,;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000523752,;TNFRSF10B,upstream_gene_variant,,ENST00000520109,;TNFRSF10B,downstream_gene_variant,,ENST00000518531,;	.	71	31	SUCCESS
ADAM18	8749	.	GRCh37	8	39468433	39468433	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	17	42	0	ENST00000265707.5:c.522+208C>T		p.*174*	ENST00000265707	NM_014237.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAACATTAA	NONE	.	.	.	.	.	ENSP00000265707	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODIFIER	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,3_prime_UTR_variant,,ENST00000520772,;ADAM18,intron_variant,,ENST00000541111,;ADAM18,intron_variant,,ENST00000265707,;ADAM18,intron_variant,,ENST00000379866,;ADAM18,downstream_gene_variant,,ENST00000520559,;ADAM18,intron_variant,,ENST00000520087,;ADAM18,downstream_gene_variant,,ENST00000520001,;	.	42	27	SUCCESS
PXDNL	137902	.	GRCh37	8	52321471	52321471	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766523476	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	209	0	ENST00000356297.4:c.2713C>T	p.Arg905Trp	p.R905W	ENST00000356297	NM_144651.4	905	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47855.1	2713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGCTCCG	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	rs766523476,COSM1222812,COSM1624057,COSM1624056,COSM1222811	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	benign(0.009)	.	tolerated(0.11)	0,1,1,1,1	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Arg905Trp,ENST00000543296,;PXDNL,missense_variant,p.Arg24Trp,ENST00000522933,;PXDNL,missense_variant,p.Arg905Trp,ENST00000356297,;PXDNL,missense_variant,p.Arg171Trp,ENST00000522628,;	2814	209	108	SUCCESS
JPH1	56704	.	GRCh37	8	75157022	75157022	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	46	0	ENST00000342232.4:c.1647G>A	p.Gln549=	p.Q549=	ENST00000342232	NM_020647.2	549	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS6217.1	1647	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGATACTGAGA	NONE	.	.	hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	.	.	ENSP00000344488	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	SNV	JPH1,synonymous_variant,p.%3D,ENST00000342232,;JPH1,non_coding_transcript_exon_variant,,ENST00000518195,;JPH1,3_prime_UTR_variant,,ENST00000519947,;	1688	46	53	SUCCESS
OR1J1	347168	.	GRCh37	9	125239463	125239463	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	40	90	0	ENST00000259357.2:c.743T>G	p.Val248Gly	p.V248G	ENST00000259357	NM_001004451.1	248	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS35120.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCACCACT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF213,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000259357	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259357	Transcript	.	.	ENSG00000136834	8208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	OR1J1_HUMAN	OR1J1	HGNC	.	.	UPI0000061E79	SNV	OR1J1,missense_variant,p.Val248Gly,ENST00000259357,;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	773	91	123	SUCCESS
ABL1	25	.	GRCh37	9	133759735	133759735	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	106	0	ENST00000318560.5:c.2058G>C	p.Leu686=	p.L686=	ENST00000318560	NM_005157.4	686	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS35165.1	2115	RADIA|MUTECT|MUSE	.	CACCTGTGGAA	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	.	.	ENSP00000361423	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372348	Transcript	.	.	ENSG00000097007	76	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABL1_HUMAN	ABL1	HGNC	Q59FK4_HUMAN	.	UPI000013E4DE	SNV	ABL1,synonymous_variant,p.%3D,ENST00000318560,;ABL1,synonymous_variant,p.%3D,ENST00000372348,;	2489	106	56	SUCCESS
ABL1	25	.	GRCh37	9	133759741	133759741	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	105	0	ENST00000318560.5:c.2064G>T	p.Lys688Asn	p.K688N	ENST00000318560	NM_005157.4	688	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS35165.1	2121	RADIA|MUTECT|MUSE	.	TGGAAGAAGTC	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	.	.	ENSP00000361423	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372348	Transcript	.	.	ENSG00000097007	76	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.357)	.	deleterious_low_confidence(0)	.	ABL1_HUMAN	ABL1	HGNC	Q59FK4_HUMAN	.	UPI000013E4DE	SNV	ABL1,missense_variant,p.Lys688Asn,ENST00000318560,;ABL1,missense_variant,p.Lys707Asn,ENST00000372348,;	2495	105	56	SUCCESS
CAMSAP1	157922	.	GRCh37	9	138714941	138714941	+	synonymous_variant	Silent	SNP	C	C	T	rs763674817	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	181	0	ENST00000389532.4:c.1566G>A	p.Thr522=	p.T522=	ENST00000389532	NM_015447.3	522	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS35176.2	1566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCGTGGC	NONE	byCluster	.	hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3	.	.	ENSP00000374183	.	11/17	.	.	.	.	.	.	.	.	rs763674817,COSM1106718	11/17	PASS	ENST00000389532	Transcript	.	.	ENSG00000130559	19946	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CAMP1_HUMAN	CAMSAP1	HGNC	.	.	UPI0000EDA283	SNV	CAMSAP1,synonymous_variant,p.%3D,ENST00000389532,;CAMSAP1,synonymous_variant,p.%3D,ENST00000312405,;CAMSAP1,synonymous_variant,p.%3D,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,;CAMSAP1,upstream_gene_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;	1631	181	84	SUCCESS
SAPCD2	89958	.	GRCh37	9	139959358	139959358	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	96	0	ENST00000409687.3:c.1013A>T	p.Gln338Leu	p.Q338L	ENST00000409687	NM_178448.3	338	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS7027.2	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTGCTGC	NONE	.	.	hmmpanther:PTHR14907,hmmpanther:PTHR14907:SF3	.	.	ENSP00000386348	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000409687	Transcript	.	.	ENSG00000186193	28055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	SAPC2_HUMAN	SAPCD2	HGNC	.	.	UPI00005A8C06	SNV	SAPCD2,missense_variant,p.Gln338Leu,ENST00000409687,;RP11-229P13.23,downstream_gene_variant,,ENST00000456356,;RP11-229P13.22,downstream_gene_variant,,ENST00000435463,;	1141	96	51	SUCCESS
IFNA8	3445	.	GRCh37	9	21409340	21409340	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749813454	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	16	55	0	ENST00000380205.1:c.165C>A	p.Asp55Glu	p.D55E	ENST00000380205	NM_002170.3	55	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS6507.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACAGACA	NONE	.	.	hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF28,Pfam_domain:PF00143,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266,Prints_domain:PR00266	.	.	ENSP00000369553	.	1/1	.	.	.	.	.	.	.	.	rs749813454	1/1	PASS	ENST00000380205	Transcript	.	.	ENSG00000120242	5429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	deleterious(0.01)	.	IFNA8_HUMAN	IFNA8	HGNC	.	.	UPI000002C35B	SNV	IFNA8,missense_variant,p.Asp55Glu,ENST00000380205,;	195	55	66	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43627118	43627118	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	46	0	ENST00000332857.6:c.1569A>G	p.Ala523=	p.A523=	ENST00000332857	NM_001145196.1	523	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS47973.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGATGCAGG	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF14650	.	.	ENSP00000329825	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,synonymous_variant,p.%3D,ENST00000332857,;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	1598	46	30	SUCCESS
STAG2	10735	.	GRCh37	X	123196845	123196845	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	95	116	0	ENST00000218089.9:c.1731+1G>C		p.X577_splice	ENST00000218089	NM_001042749.1	577		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43990.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGTAAGT	NONE	.	.	.	.	.	ENSP00000218089	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	HIGH	18/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	SNV	STAG2,splice_donor_variant,,ENST00000371160,;STAG2,splice_donor_variant,,ENST00000354548,;STAG2,splice_donor_variant,,ENST00000371157,;STAG2,splice_donor_variant,,ENST00000371144,;STAG2,splice_donor_variant,,ENST00000218089,;STAG2,splice_donor_variant,,ENST00000371145,;STAG2,downstream_gene_variant,,ENST00000455404,;STAG2,splice_donor_variant,,ENST00000466748,;STAG2,splice_donor_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;STAG2,downstream_gene_variant,,ENST00000483575,;	.	116	154	SUCCESS
PLXNB3	5365	.	GRCh37	X	153043754	153043754	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	95	0	ENST00000361971.5:c.5448C>A	p.Ile1816=	p.I1816=	ENST00000361971	NM_005393.2	1816	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS55536.1	5517	MUSE|VARSCANS	.	GAGATCCCACG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000442736	.	34/37	.	.	.	.	.	.	.	.	.	34/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,synonymous_variant,p.%3D,ENST00000538966,;PLXNB3,synonymous_variant,p.%3D,ENST00000448847,;PLXNB3,synonymous_variant,p.%3D,ENST00000538776,;PLXNB3,synonymous_variant,p.%3D,ENST00000361971,;SRPK3,5_prime_UTR_variant,,ENST00000489426,;PLXNB3,downstream_gene_variant,,ENST00000411613,;SRPK3,upstream_gene_variant,,ENST00000370108,;SRPK3,upstream_gene_variant,,ENST00000370100,;PLXNB3,downstream_gene_variant,,ENST00000455214,;SRPK3,upstream_gene_variant,,ENST00000430541,;SRPK3,upstream_gene_variant,,ENST00000393786,;PLXNB3,downstream_gene_variant,,ENST00000538282,;SRPK3,upstream_gene_variant,,ENST00000370104,;SRPK3,upstream_gene_variant,,ENST00000370101,;PLXNB3,non_coding_transcript_exon_variant,,ENST00000485980,;PLXNB3,non_coding_transcript_exon_variant,,ENST00000469190,;PLXNB3,upstream_gene_variant,,ENST00000472415,;PLXNB3,downstream_gene_variant,,ENST00000482654,;	5788	95	60	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20206619	20206619	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	160	248	0	ENST00000379565.3:c.627A>T	p.Leu209Phe	p.L209F	ENST00000379565	NM_004586.2	209	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS14197.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTTAACTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Leu180Phe,ENST00000379548,;RPS6KA3,missense_variant,p.Leu209Phe,ENST00000379565,;RPS6KA3,missense_variant,p.Leu181Phe,ENST00000540702,;RPS6KA3,missense_variant,p.Leu181Phe,ENST00000544447,;RPS6KA3,missense_variant,p.Leu180Phe,ENST00000457145,;	835	248	356	SUCCESS
NR0B1	190	.	GRCh37	X	30327260	30327260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	48	129	0	ENST00000378970.4:c.221C>A	p.Pro74Gln	p.P74Q	ENST00000378970	NM_000475.4	74	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS14223.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTGGGTGG	NONE	.	.	Pfam_domain:PF14046,hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF1	.	.	ENSP00000368253	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000378970	Transcript	.	.	ENSG00000169297	7960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated_low_confidence(0.13)	.	NR0B1_HUMAN	NR0B1	HGNC	F1D8P4_HUMAN	.	UPI0000128ED4	SNV	NR0B1,missense_variant,p.Pro74Gln,ENST00000453287,;NR0B1,missense_variant,p.Pro74Gln,ENST00000378970,;NR0B1,upstream_gene_variant,,ENST00000378963,;	456	129	72	SUCCESS
NLGN4X	57502	.	GRCh37	X	5811119	5811119	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770882050	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	36	67	0	ENST00000275857.6:c.2190G>T	p.Met730Ile	p.M730I	ENST00000275857	NM_020742.2	730	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS14126.1	2190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGACATGAT	NONE	.	.	.	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	rs770882050	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.24)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Met730Ile,ENST00000381092,;NLGN4X,missense_variant,p.Met730Ile,ENST00000381095,;NLGN4X,missense_variant,p.Met750Ile,ENST00000381093,;NLGN4X,missense_variant,p.Met730Ile,ENST00000538097,;NLGN4X,missense_variant,p.Met730Ile,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	2818	67	54	SUCCESS
CNNM1	26507	.	GRCh37	10	101120654	101120654	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	52	0	ENST00000356713.4:c.1780T>C	p.Phe594Leu	p.F594L	ENST00000356713	NM_020348.2	594	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS7478.2	1780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTTTAAG	NONE	.	.	hmmpanther:PTHR12064:SF28,hmmpanther:PTHR12064	.	.	ENSP00000349147	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000356713	Transcript	.	.	ENSG00000119946	102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CNNM1_HUMAN	CNNM1	HGNC	F2YHU6_HUMAN,B3KPD2_HUMAN	.	UPI0000E19A44	SNV	CNNM1,missense_variant,p.Phe229Leu,ENST00000370534,;CNNM1,missense_variant,p.Phe523Leu,ENST00000446890,;CNNM1,missense_variant,p.Phe523Leu,ENST00000370528,;CNNM1,missense_variant,p.Phe594Leu,ENST00000356713,;	2069	52	71	SUCCESS
ARMC3	219681	.	GRCh37	10	23292182	23292182	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	53	154	0	ENST00000298032.5:c.1570G>C	p.Asp524His	p.D524H	ENST00000298032	NM_173081.3	524	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS7142.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAGATATC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	.	.	ENSP00000298032	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000298032	Transcript	.	.	ENSG00000165309	30964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,missense_variant,p.Asp524His,ENST00000409983,;ARMC3,missense_variant,p.Asp524His,ENST00000409049,;ARMC3,missense_variant,p.Asp524His,ENST00000298032,;ARMC3,missense_variant,p.Asp261His,ENST00000376528,;ARMC3,upstream_gene_variant,,ENST00000491803,;	1654	154	136	SUCCESS
RTKN2	219790	.	GRCh37	10	63976888	63976888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	15	100	1	ENST00000373789.3:c.1009C>T	p.Pro337Ser	p.P337S	ENST00000373789	NM_145307.2	337	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7263.1	1009	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGTACTA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF21,PROSITE_profiles:PS50003	.	.	ENSP00000362894	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.65)	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,missense_variant,p.Pro337Ser,ENST00000373789,;RTKN2,missense_variant,p.Pro337Ser,ENST00000395265,;RTKN2,missense_variant,p.Pro118Ser,ENST00000315289,;	1106	101	105	SUCCESS
CYP2C9	1559	.	GRCh37	10	96708945	96708945	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	405	14	327	1	ENST00000260682.6:c.723A>C	p.Lys241Asn	p.K241N	ENST00000260682	NM_000771.3	241	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS7437.1	723	MUTECT|MUSE	.	ATGAAAAGTTA	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF131,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000260682	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000260682	Transcript	1	.	ENSG00000138109	2623	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.122)	.	tolerated(0.06)	.	CP2C9_HUMAN	CYP2C9	HGNC	S5RV20_HUMAN,Q9UEH3_HUMAN	.	UPI0000128258	SNV	CYP2C9,missense_variant,p.Lys241Asn,ENST00000260682,;CYP2C9,non_coding_transcript_exon_variant,,ENST00000473496,;	735	328	419	SUCCESS
DSCAML1	57453	.	GRCh37	11	117374731	117374731	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778578406	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	65	0	ENST00000321322.6:c.2368G>A	p.Gly790Arg	p.G790R	ENST00000321322	NM_020693.2	790	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS8384.1	2368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCGCTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	11/33	.	.	.	.	.	.	.	.	rs778578406,COSM3670674	11/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.976)	.	deleterious(0.03)	0,1	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Gly520Arg,ENST00000527706,;DSCAML1,missense_variant,p.Gly790Arg,ENST00000321322,;	2370	65	49	SUCCESS
OR8B4	283162	.	GRCh37	11	124294237	124294237	+	synonymous_variant	Silent	SNP	C	C	A	rs1196462007	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	48	133	0	ENST00000356130.3:c.531G>T	p.Leu177=	p.L177=	ENST00000356130	NM_001005196.1	177	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31710.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACAGATA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000348449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356130	Transcript	.	.	ENSG00000198657	8473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8B4_HUMAN	OR8B4	HGNC	.	.	UPI00000015B0	SNV	OR8B4,synonymous_variant,p.%3D,ENST00000356130,;	553	133	85	SUCCESS
CHEK1	1111	.	GRCh37	11	125496682	125496683	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	150	25	158	0	ENST00000428830.2:c.21dup	p.Asp8ArgfsTer22	p.D8Rfs*22	ENST00000428830	NM_001114121.2	7	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS8459.1	19-20	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTGGAAGAC	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR24344	.	.	ENSP00000435371	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000534070	Transcript	.	.	ENSG00000149554	1925	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHK1_HUMAN	CHEK1	HGNC	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN	.	UPI000013DBA3	insertion	CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000438015,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000544373,;CHEK1,frameshift_variant,p.Thr99AspfsTer22,ENST00000427383,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000428830,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000525396,;CHEK1,frameshift_variant,p.Asp8ArgfsTer18,ENST00000532669,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000278916,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000533778,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000527013,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000534070,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000526937,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000524737,;CHEK1,frameshift_variant,p.Asp8ArgfsTer22,ENST00000534685,;STT3A,downstream_gene_variant,,ENST00000392708,;CHEK1,non_coding_transcript_exon_variant,,ENST00000532449,;CHEK1,non_coding_transcript_exon_variant,,ENST00000531607,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528761,;STT3A,downstream_gene_variant,,ENST00000526364,;	274-275	158	175	SUCCESS
GLB1L3	112937	.	GRCh37	11	134175028	134175028	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	42	0	ENST00000431683.2:c.877-1990G>T		p.*293*	ENST00000431683	NM_001080407.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44780.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGACTGC	NONE	.	.	.	.	.	ENSP00000396615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000431683	Transcript	.	.	ENSG00000166105	25147	.	.	MODIFIER	9/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLBL3_HUMAN	GLB1L3	HGNC	.	.	UPI0001633637	SNV	GLB1L3,missense_variant,p.Gly299Val,ENST00000389887,;GLB1L3,intron_variant,,ENST00000431683,;GLB1L3,intron_variant,,ENST00000486034,;GLB1L3,intron_variant,,ENST00000498012,;GLB1L3,upstream_gene_variant,,ENST00000410100,;GLB1L3,upstream_gene_variant,,ENST00000467068,;GLB1L3,upstream_gene_variant,,ENST00000455971,;	.	42	37	SUCCESS
ROM1	6094	.	GRCh37	11	62381849	62381849	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374111556	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	79	0	ENST00000278833.3:c.710C>G	p.Pro237Arg	p.P237R	ENST00000278833	NM_000327.3	237	cCc/cGc	0	G:0.0002	.	.	.	.	G	P/R	protein_coding	YES	CCDS8024.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCCCTGT	NONE	byFrequency|byCluster	.	Superfamily_domains:0037997,Pfam_domain:PF00335,hmmpanther:PTHR19282:SF188,hmmpanther:PTHR19282	.	G:0	ENSP00000278833	.	2/3	.	.	.	.	.	.	.	.	rs374111556	2/3	PASS	ENST00000278833	Transcript	.	.	ENSG00000149489	10254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.44)	.	ROM1_HUMAN	ROM1	HGNC	.	.	UPI000013DB95	SNV	ROM1,missense_variant,p.Pro237Arg,ENST00000278833,;ROM1,missense_variant,p.Pro28Ala,ENST00000525801,;ROM1,missense_variant,p.Pro28Ala,ENST00000534093,;ROM1,missense_variant,p.Pro28Ala,ENST00000525947,;EML3,upstream_gene_variant,,ENST00000278845,;B3GAT3,downstream_gene_variant,,ENST00000534026,;B3GAT3,downstream_gene_variant,,ENST00000265471,;EML3,upstream_gene_variant,,ENST00000494176,;EML3,upstream_gene_variant,,ENST00000394773,;EML3,upstream_gene_variant,,ENST00000419857,;EML3,upstream_gene_variant,,ENST00000394776,;EML3,upstream_gene_variant,,ENST00000529309,;EML3,upstream_gene_variant,,ENST00000466671,;B3GAT3,downstream_gene_variant,,ENST00000531383,;EML3,upstream_gene_variant,,ENST00000466886,;B3GAT3,downstream_gene_variant,,ENST00000534715,;EML3,upstream_gene_variant,,ENST00000531557,;ROM1,downstream_gene_variant,,ENST00000529273,;B3GAT3,downstream_gene_variant,,ENST00000533303,;EML3,upstream_gene_variant,,ENST00000494448,;B3GAT3,downstream_gene_variant,,ENST00000532585,;	1251	79	50	SUCCESS
B3GAT3	26229	.	GRCh37	11	62389402	62389402	+	synonymous_variant	Silent	SNP	C	C	T	rs754960750	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	8	199	0	ENST00000265471.5:c.18G>A	p.Lys6=	p.K6=	ENST00000265471	NM_012200.3	6	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS8025.1	18	MUTECT|MUSE	.	ACGTTCTTCAG	NONE	.	.	hmmpanther:PTHR10896:SF9,hmmpanther:PTHR10896	.	.	ENSP00000265471	.	1/5	.	.	.	.	.	.	.	.	rs754960750,COSM3980505	1/5	PASS	ENST00000265471	Transcript	.	.	ENSG00000149541	923	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	B3GA3_HUMAN	B3GAT3	HGNC	.	.	UPI000006F88E	SNV	B3GAT3,synonymous_variant,p.%3D,ENST00000534026,;B3GAT3,synonymous_variant,p.%3D,ENST00000265471,;B3GAT3,synonymous_variant,p.%3D,ENST00000531383,;B3GAT3,synonymous_variant,p.%3D,ENST00000534715,;GANAB,downstream_gene_variant,,ENST00000356638,;GANAB,downstream_gene_variant,,ENST00000534779,;GANAB,downstream_gene_variant,,ENST00000540933,;GANAB,downstream_gene_variant,,ENST00000346178,;B3GAT3,synonymous_variant,p.%3D,ENST00000532585,;GANAB,downstream_gene_variant,,ENST00000532402,;GANAB,downstream_gene_variant,,ENST00000531563,;B3GAT3,upstream_gene_variant,,ENST00000533303,;GANAB,downstream_gene_variant,,ENST00000528503,;	246	199	161	SUCCESS
SLC22A20	0	.	GRCh37	11	65000619	65000619	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	A	A	T	rs370758882	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	81	0	ENST00000454680.2:n.1083-2A>T		p.X361_splice	ENST00000454680		361		0	G:0	.	.	.	.	T	.	processed_transcript	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGGTTC	NONE	byFrequency|byCluster	.	.	.	G:0.0001	.	.	.	.	.	.	.	.	.	.	.	rs370758882	.	PASS	ENST00000525437	Transcript	.	.	ENSG00000197847	29867	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC22A20	HGNC	.	.	.	SNV	SLC22A20,splice_acceptor_variant,,ENST00000525437,;SLC22A20,splice_acceptor_variant,,ENST00000529062,;SLC22A20,splice_acceptor_variant,,ENST00000454680,;SLC22A20,splice_acceptor_variant,,ENST00000530038,;	.	81	75	SUCCESS
SCYL1	57410	.	GRCh37	11	65294532	65294532	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	32	198	0	ENST00000270176.5:c.793G>A	p.Gly265Ser	p.G265S	ENST00000270176	NM_020680.3	265	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS41672.1	793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGGTGGC	NONE	.	.	hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984,PROSITE_profiles:PS50011	.	.	ENSP00000270176	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000270176	Transcript	.	.	ENSG00000142186	14372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.06)	.	NTKL_HUMAN	SCYL1	HGNC	E9PPN3_HUMAN	.	UPI0000035B94	SNV	SCYL1,missense_variant,p.Gly265Ser,ENST00000420247,;SCYL1,missense_variant,p.Gly265Ser,ENST00000270176,;SCYL1,missense_variant,p.Gly122Ser,ENST00000527009,;SCYL1,missense_variant,p.Gly265Ser,ENST00000279270,;SCYL1,missense_variant,p.Gly265Ser,ENST00000525364,;SCYL1,missense_variant,p.Gly265Ser,ENST00000533862,;SCYL1,missense_variant,p.Gly265Ser,ENST00000524944,;SCYL1,upstream_gene_variant,,ENST00000529178,;	870	199	163	SUCCESS
DCHS1	8642	.	GRCh37	11	6643123	6643123	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	53	0	ENST00000299441.3:c.9784G>C	p.Ala3262Pro	p.A3262P	ENST00000299441	NM_003737.2	3262	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7771.1	9784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCCAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Ala3262Pro,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,non_coding_transcript_exon_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	10196	53	65	SUCCESS
OR2AG1	144125	.	GRCh37	11	6806964	6806964	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	79	0	ENST00000307401.4:c.696G>A	p.Glu232=	p.E232=	ENST00000307401	NM_001004489.2	232	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS31414.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAGGGGAG	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183,PROSITE_profiles:PS50262	.	.	ENSP00000307447	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307401	Transcript	.	.	ENSG00000170803	15142	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O2AG1_HUMAN	OR2AG1	HGNC	.	.	UPI00000015AF	SNV	OR2AG1,synonymous_variant,p.%3D,ENST00000307401,;	717	79	61	SUCCESS
MRGPRF	116535	.	GRCh37	11	68772841	68772841	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	42	0	ENST00000309099.6:c.937del	p.Ala313ProfsTer110	p.A313Pfs*110	ENST00000309099	NM_145015.4	313	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS8188.1	937	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGGGCCCGCT	NONE	.	.	hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3,Superfamily_domains:SSF81321,Prints_domain:PR02108	.	.	ENSP00000309782	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309099	Transcript	.	.	ENSG00000172935	24828	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MRGRF_HUMAN	MRGPRF	HGNC	Q8N7J6_HUMAN	.	UPI000012F566	deletion	MRGPRF,frameshift_variant,p.Ala313ProfsTer110,ENST00000441623,;MRGPRF,frameshift_variant,p.Ala313ProfsTer110,ENST00000309099,;MRGPRF,downstream_gene_variant,,ENST00000320913,;RP11-554A11.5,downstream_gene_variant,,ENST00000562506,;RP11-554A11.4,upstream_gene_variant,,ENST00000562276,;	1320	42	37	SUCCESS
NEU3	10825	.	GRCh37	11	74717159	74717159	+	synonymous_variant	Silent	SNP	A	A	C	rs776965933	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	66	0	ENST00000294064.4:c.1008A>C	p.Ala336=	p.A336=	ENST00000294064	NM_006656.5	336	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS44682.1	1008	RADIA|MUTECT|MUSE|VARSCANS	.	GATGCACCCAC	NONE	byFrequency	.	hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF7,Gene3D:2.120.10.10,Pfam_domain:PF13088	.	.	ENSP00000294064	.	3/3	.	.	.	.	.	.	.	.	rs776965933	3/3	PASS	ENST00000294064	Transcript	.	.	ENSG00000162139	7760	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NEU3	HGNC	B4E0V4_HUMAN,A8K327_HUMAN	.	UPI000015F481	SNV	NEU3,synonymous_variant,p.%3D,ENST00000544263,;NEU3,synonymous_variant,p.%3D,ENST00000545272,;NEU3,synonymous_variant,p.%3D,ENST00000294064,;NEU3,synonymous_variant,p.%3D,ENST00000531509,;NEU3,3_prime_UTR_variant,,ENST00000532963,;NEU3,intron_variant,,ENST00000529024,;NEU3,downstream_gene_variant,,ENST00000531619,;	1935	66	56	SUCCESS
ACER3	55331	.	GRCh37	11	76727823	76727823	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	76	0	ENST00000532485.1:c.704G>C	p.Ser235Thr	p.S235T	ENST00000532485	NM_018367.5	235	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS8247.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGGTAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12956,hmmpanther:PTHR12956:SF4,Pfam_domain:PF05875	.	.	ENSP00000434480	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000532485	Transcript	.	.	ENSG00000078124	16066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.26)	.	ACER3_HUMAN	ACER3	HGNC	F5GYA0_HUMAN,E9PIN9_HUMAN,B7Z2V2_HUMAN	.	UPI000013DB7C	SNV	ACER3,missense_variant,p.Ser193Thr,ENST00000534206,;ACER3,missense_variant,p.Ser235Thr,ENST00000532485,;ACER3,missense_variant,p.Ser198Thr,ENST00000533873,;ACER3,missense_variant,p.Ser193Thr,ENST00000538157,;ACER3,missense_variant,p.Ser102Thr,ENST00000544113,;ACER3,missense_variant,p.Ser140Thr,ENST00000526597,;ACER3,downstream_gene_variant,,ENST00000527508,;ACER3,splice_region_variant,,ENST00000278544,;ACER3,splice_region_variant,,ENST00000525325,;ACER3,splice_region_variant,,ENST00000531461,;ACER3,splice_region_variant,,ENST00000525861,;ACER3,splice_region_variant,,ENST00000531352,;ACER3,downstream_gene_variant,,ENST00000530334,;ACER3,upstream_gene_variant,,ENST00000530921,;ACER3,downstream_gene_variant,,ENST00000525194,;	808	76	61	SUCCESS
EID3	493861	.	GRCh37	12	104697876	104697876	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	55	0	ENST00000527879.1:c.164G>A	p.Arg55Gln	p.R55Q	ENST00000527879	NM_001008394.2	55	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS53822.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCGGGAGG	NONE	.	.	hmmpanther:PTHR16140:SF1,hmmpanther:PTHR16140	.	.	ENSP00000435619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527879	Transcript	.	.	ENSG00000255150	32961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EID3_HUMAN	EID3	HGNC	.	.	UPI000007080F	SNV	EID3,missense_variant,p.Arg55Gln,ENST00000527879,;TXNRD1,intron_variant,,ENST00000526580,;TXNRD1,intron_variant,,ENST00000354940,;TXNRD1,intron_variant,,ENST00000388854,;TXNRD1,intron_variant,,ENST00000529546,;TXNRD1,intron_variant,,ENST00000526691,;TXNRD1,intron_variant,,ENST00000524698,;TXNRD1,intron_variant,,ENST00000526266,;TXNRD1,intron_variant,,ENST00000527335,;TXNRD1,intron_variant,,ENST00000526390,;TXNRD1,intron_variant,,ENST00000429002,;TXNRD1,intron_variant,,ENST00000531691,;TXNRD1,intron_variant,,ENST00000528079,;TXNRD1,intron_variant,,ENST00000397736,;TXNRD1,intron_variant,,ENST00000503506,;TXNRD1,intron_variant,,ENST00000525566,;TXNRD1,intron_variant,,ENST00000529784,;TXNRD1,intron_variant,,ENST00000542918,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,intron_variant,,ENST00000540716,;TXNRD1,intron_variant,,ENST00000378070,;TXNRD1,intron_variant,,ENST00000531689,;TXNRD1,intron_variant,,ENST00000527688,;	360	56	53	SUCCESS
P2RX7	5027	.	GRCh37	12	121622253	121622253	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	47	0	ENST00000328963.5:c.926G>A	p.Cys309Tyr	p.C309Y	ENST00000328963		309	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS9213.1	1436	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGTGGAA	NONE	.	.	hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF13	.	.	ENSP00000442349	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000546057	Transcript	.	.	ENSG00000089041	8537	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	P2RX7	HGNC	K4K1I8_HUMAN	.	UPI000016865E	SNV	P2RX7,missense_variant,p.Cys389Tyr,ENST00000535250,;P2RX7,missense_variant,p.Cys479Tyr,ENST00000546057,;P2RX7,missense_variant,p.Cys309Tyr,ENST00000328963,;P2RX7,missense_variant,p.Cys190Tyr,ENST00000541446,;RP11-340F14.5,upstream_gene_variant,,ENST00000569999,;P2RX7,non_coding_transcript_exon_variant,,ENST00000443520,;P2RX7,3_prime_UTR_variant,,ENST00000539606,;P2RX7,3_prime_UTR_variant,,ENST00000541022,;P2RX7,3_prime_UTR_variant,,ENST00000538011,;P2RX7,3_prime_UTR_variant,,ENST00000261826,;P2RX7,3_prime_UTR_variant,,ENST00000541564,;P2RX7,3_prime_UTR_variant,,ENST00000537312,;P2RX7,3_prime_UTR_variant,,ENST00000535600,;P2RX7,3_prime_UTR_variant,,ENST00000541716,;P2RX7,non_coding_transcript_exon_variant,,ENST00000539695,;	1579	47	62	SUCCESS
KNTC1	9735	.	GRCh37	12	123057714	123057714	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	31	140	0	ENST00000333479.7:c.2165G>C	p.Arg722Pro	p.R722P	ENST00000333479	NM_014708.4	722	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS45002.1	2165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCGAATGT	NONE	.	.	hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688	.	.	ENSP00000328236	.	26/64	.	.	.	.	.	.	.	.	COSM936255	26/64	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0.03)	1	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	KNTC1,missense_variant,p.Arg685Pro,ENST00000450485,;KNTC1,missense_variant,p.Arg722Pro,ENST00000333479,;	2342	140	132	SUCCESS
ABCC9	10060	.	GRCh37	12	22035740	22035740	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150255709	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	43	72	1	ENST00000261201.4:c.1979G>A	p.Arg660Gln	p.R660Q	ENST00000261201	NM_005691.2	660	cGg/cAg	0	T:0.0005	T:0.0015	.	T:0	.	T	R/Q	protein_coding	YES	CCDS8693.1	1979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCGTGTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223	T:0	T:0	ENSP00000261200	T:0	14/38	.	.	.	.	.	.	.	.	rs150255709	14/38	PASS	ENST00000261200	Transcript	.	T:0.0004	ENSG00000069431	60	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	T:0	tolerated(0.27)	.	ABCC9_HUMAN	ABCC9	HGNC	Q8N9N1_HUMAN	.	UPI000013D13F	SNV	ABCC9,missense_variant,p.Arg660Gln,ENST00000261201,;ABCC9,missense_variant,p.Arg660Gln,ENST00000261200,;ABCC9,intron_variant,,ENST00000345162,;ABCC9,intron_variant,,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;	1979	73	78	SUCCESS
C12orf77	0	.	GRCh37	12	25148920	25148920	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	70	120	0	ENST00000549828.1:c.228A>T	p.Arg76=	p.R76=	ENST00000549828	NM_001101339.1	76	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS44846.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATCGTAT	CODON|p.R76Q|c.227G>A|3	.	.	.	.	.	ENSP00000447146	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000549828	Transcript	.	.	ENSG00000226397	27282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL097_HUMAN	C12orf77	HGNC	.	.	UPI000016134F	SNV	C12orf77,synonymous_variant,p.%3D,ENST00000434912,;C12orf77,synonymous_variant,p.%3D,ENST00000549828,;C12orf77,synonymous_variant,p.%3D,ENST00000549262,;	433	120	131	SUCCESS
DENND5B	160518	.	GRCh37	12	31633069	31633069	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	102	0	ENST00000389082.5:c.358del	p.Tyr120MetfsTer52	p.Y120Mfs*52	ENST00000389082	NM_144973.3	120	Tat/at	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS44857.1	358	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCATAAAAAG	NONE	.	.	SMART_domains:SM00800,Pfam_domain:PF03456,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50946	.	.	ENSP00000373734	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	deletion	DENND5B,frameshift_variant,p.Tyr72MetfsTer52,ENST00000546299,;DENND5B,frameshift_variant,p.Tyr155MetfsTer52,ENST00000536562,;DENND5B,frameshift_variant,p.Tyr155MetfsTer52,ENST00000306833,;DENND5B,frameshift_variant,p.Tyr120MetfsTer52,ENST00000389082,;DENND5B,frameshift_variant,p.Tyr142MetfsTer52,ENST00000354285,;DENND5B,intron_variant,,ENST00000545147,;DENND5B,3_prime_UTR_variant,,ENST00000544698,;RP11-820K3.4,downstream_gene_variant,,ENST00000544433,;	623	102	110	SUCCESS
ARID2	196528	.	GRCh37	12	46231189	46231189	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	49	123	0	ENST00000334344.6:c.1109T>G	p.Leu370Ter	p.L370*	ENST00000334344	NM_152641.2	370	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS31783.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTTAAAGA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Superfamily_domains:SSF48371	.	.	ENSP00000335044	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,stop_gained,p.Leu370Ter,ENST00000334344,;ARID2,stop_gained,p.Leu221Ter,ENST00000422737,;ARID2,5_prime_UTR_variant,,ENST00000444670,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,non_coding_transcript_exon_variant,,ENST00000480128,;	1281	123	100	SUCCESS
KMT2D	8085	.	GRCh37	12	49445845	49445845	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	20	128	0	ENST00000301067.7:c.1621G>A	p.Glu541Lys	p.E541K	ENST00000301067	NM_003482.3	541	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS44873.1	1621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCAGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000301067	.	10/54	.	.	.	.	.	.	.	.	.	10/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Glu541Lys,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000547610,;	1621	128	113	SUCCESS
LRP1	4035	.	GRCh37	12	57562953	57562953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	38	51	0	ENST00000243077.3:c.3026C>A	p.Ala1009Asp	p.A1009D	ENST00000243077	NM_002332.2	1009	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS8932.1	3026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGCCGGCT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	20/89	.	.	.	.	.	.	.	.	.	20/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Ala1009Asp,ENST00000243077,;LRP1,non_coding_transcript_exon_variant,,ENST00000553446,;LRP1,downstream_gene_variant,,ENST00000556830,;	3492	51	60	SUCCESS
IFNG	3458	.	GRCh37	12	68553327	68553327	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	88	206	1	ENST00000229135.3:c.69C>T	p.Cys23=	p.C23=	ENST00000229135	NM_000619.2	23	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS8980.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGCAGTA	NONE	.	.	hmmpanther:PTHR11419,Pfam_domain:PF00714,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001936,Superfamily_domains:SSF47266	.	.	ENSP00000229135	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000229135	Transcript	.	.	ENSG00000111537	5438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNG_HUMAN	IFNG	HGNC	A1Z2M2_HUMAN	.	UPI000002C7C8	SNV	IFNG,synonymous_variant,p.%3D,ENST00000229135,;IFNG-AS1,intron_variant,,ENST00000536914,;	201	207	200	SUCCESS
LEPREL2	0	.	GRCh37	12	6946251	6946251	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	11	20	0	ENST00000290510.8:n.1093+1G>A		p.X365_splice	ENST00000290510		365		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CGCAGGTGAGC	NONE	.	.	.	.	.	ENSP00000379951	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396725	Transcript	.	.	ENSG00000110811	19318	.	.	HIGH	11/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	LEPREL2	HGNC	G8JLI6_HUMAN	.	UPI00001AF55A	SNV	LEPREL2,splice_donor_variant,,ENST00000251761,;LEPREL2,splice_donor_variant,,ENST00000396725,;GNB3,upstream_gene_variant,,ENST00000435982,;GNB3,upstream_gene_variant,,ENST00000541257,;GNB3,upstream_gene_variant,,ENST00000229264,;GNB3,upstream_gene_variant,,ENST00000537035,;GNB3,upstream_gene_variant,,ENST00000541978,;LEPREL2,downstream_gene_variant,,ENST00000538102,;LEPREL2,splice_donor_variant,,ENST00000290510,;LEPREL2,splice_donor_variant,,ENST00000544949,;LEPREL2,splice_donor_variant,,ENST00000536140,;LEPREL2,splice_donor_variant,,ENST00000544200,;LEPREL2,splice_donor_variant,,ENST00000540406,;LEPREL2,splice_donor_variant,,ENST00000542976,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000541956,;GNB3,upstream_gene_variant,,ENST00000540458,;GNB3,upstream_gene_variant,,ENST00000542868,;LEPREL2,downstream_gene_variant,,ENST00000545596,;GNB3,upstream_gene_variant,,ENST00000539127,;LEPREL2,splice_donor_variant,,ENST00000606935,;	.	20	14	SUCCESS
FOXO1	2308	.	GRCh37	13	41134803	41134803	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	122	0	ENST00000379561.5:c.825A>G	p.Ala275=	p.A275=	ENST00000379561	NM_002015.3	275	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9371.1	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159	.	.	ENSP00000368880	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000379561	Transcript	.	.	ENSG00000150907	3819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXO1_HUMAN	FOXO1	HGNC	.	.	UPI000013DC20	SNV	FOXO1,synonymous_variant,p.%3D,ENST00000379561,;FOXO1,downstream_gene_variant,,ENST00000473775,;	1210	122	95	SUCCESS
PCDH20	64881	.	GRCh37	13	61985776	61985776	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1047769718	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	93	0	ENST00000409186.1:c.2456G>A	p.Arg819His	p.R819H	ENST00000409186		819	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9442.2	2456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGCGATGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,PROSITE_profiles:PS50268	.	.	ENSP00000386653	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	deleterious(0)	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,missense_variant,p.Arg819His,ENST00000409204,;PCDH20,missense_variant,p.Arg819His,ENST00000409186,;	4562	93	79	SUCCESS
FSCB	84075	.	GRCh37	14	44976276	44976276	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	76	0	ENST00000340446.4:c.-86T>C		p.*29*	ENST00000340446	NM_032135.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9679.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAAGAGT	NONE	.	.	.	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,5_prime_UTR_variant,,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	207	76	98	SUCCESS
PRKCH	5583	.	GRCh37	14	61924300	61924300	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1446837577	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	91	0	ENST00000332981.5:c.1181A>T	p.Asp394Val	p.D394V	ENST00000332981	NM_006255.3	394	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS9752.1	1181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGATGATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24357:SF51,hmmpanther:PTHR24357,Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501107,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000329127	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000332981	Transcript	.	.	ENSG00000027075	9403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	KPCL_HUMAN	PRKCH	HGNC	G3V5U5_HUMAN,G3V5F8_HUMAN,G3V520_HUMAN,G3V4X4_HUMAN,G3V4Q9_HUMAN,G3V4Q6_HUMAN,G3V4L3_HUMAN,G3V4H0_HUMAN,G3V3E7_HUMAN,G3V304_HUMAN,B4DV01_HUMAN,B4DJN5_HUMAN	.	UPI0000073BBF	SNV	PRKCH,missense_variant,p.Asp394Val,ENST00000332981,;PRKCH,missense_variant,p.Asp233Val,ENST00000555082,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,downstream_gene_variant,,ENST00000556778,;PRKCH,downstream_gene_variant,,ENST00000553726,;PRKCH,downstream_gene_variant,,ENST00000557585,;PRKCH,non_coding_transcript_exon_variant,,ENST00000557559,;PRKCH,non_coding_transcript_exon_variant,,ENST00000555604,;PRKCH,non_coding_transcript_exon_variant,,ENST00000553889,;	1566	91	101	SUCCESS
KCNH5	27133	.	GRCh37	14	63246590	63246590	+	synonymous_variant	Silent	SNP	A	A	G	rs1282718979	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	69	145	0	ENST00000322893.7:c.1875T>C	p.His625=	p.H625=	ENST00000322893	NM_139318.4	625	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS9756.1	1875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCATGGGC	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,Pfam_domain:PF00027,hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217,PROSITE_profiles:PS50042	.	.	ENSP00000321427	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,synonymous_variant,p.%3D,ENST00000394968,;KCNH5,synonymous_variant,p.%3D,ENST00000322893,;KCNH5,intron_variant,,ENST00000420622,;	2144	145	143	SUCCESS
MLH3	27030	.	GRCh37	14	75514207	75514207	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	29	100	0	ENST00000355774.2:c.2152C>G	p.Pro718Ala	p.P718A	ENST00000355774	NM_001040108.1	718	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS32123.1	2152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGAAAG	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7	.	.	ENSP00000348020	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0.02)	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	SNV	MLH3,missense_variant,p.Pro718Ala,ENST00000556257,;MLH3,missense_variant,p.Pro718Ala,ENST00000238662,;MLH3,missense_variant,p.Pro718Ala,ENST00000556740,;MLH3,missense_variant,p.Pro718Ala,ENST00000355774,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000544985,;MLH3,upstream_gene_variant,,ENST00000553713,;MLH3,downstream_gene_variant,,ENST00000557648,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,upstream_gene_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	2368	100	110	SUCCESS
FOS	2353	.	GRCh37	14	75745588	75745588	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	25	0	ENST00000303562.4:c.-98G>A		p.*33*	ENST00000303562	NM_005252.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCAGCGAAC	NONE	.	.	.	.	.	ENSP00000306245	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000303562	Transcript	.	.	ENSG00000170345	3796	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOS_HUMAN	FOS	HGNC	Q76MZ0_HUMAN,Q76MY9_HUMAN,Q6FG41_HUMAN,G3V2V7_HUMAN,A8K4E2_HUMAN	.	UPI000000D8F5	SNV	FOS,5_prime_UTR_variant,,ENST00000554212,;FOS,5_prime_UTR_variant,,ENST00000303562,;FOS,5_prime_UTR_variant,,ENST00000535987,;FOS,5_prime_UTR_variant,,ENST00000554617,;FOS,upstream_gene_variant,,ENST00000555347,;FOS,upstream_gene_variant,,ENST00000555686,;FOS,upstream_gene_variant,,ENST00000555242,;FOS,upstream_gene_variant,,ENST00000555672,;FOS,upstream_gene_variant,,ENST00000557139,;FOS,non_coding_transcript_exon_variant,,ENST00000556324,;	112	25	42	SUCCESS
SPINT1	6692	.	GRCh37	15	41137095	41137095	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	51	110	0	ENST00000344051.4:c.343G>C	p.Ala115Pro	p.A115P	ENST00000344051		115	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS10067.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCGCCTGC	NONE	.	.	PROSITE_profiles:PS50986,hmmpanther:PTHR10083:SF174,hmmpanther:PTHR10083,Pfam_domain:PF07502,SMART_domains:SM00765	.	.	ENSP00000342098	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000344051	Transcript	.	.	ENSG00000166145	11246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.06)	.	SPIT1_HUMAN	SPINT1	HGNC	H3BTQ8_HUMAN	.	UPI00001AE46F	SNV	SPINT1,missense_variant,p.Ala115Pro,ENST00000563656,;SPINT1,missense_variant,p.Ala115Pro,ENST00000562057,;SPINT1,missense_variant,p.Ala115Pro,ENST00000431806,;SPINT1,missense_variant,p.Ala177Pro,ENST00000568823,;SPINT1,missense_variant,p.Ala75Pro,ENST00000568580,;SPINT1,missense_variant,p.Ala115Pro,ENST00000344051,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;	577	110	92	SUCCESS
ZNF106	64397	.	GRCh37	15	42743691	42743691	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	112	0	ENST00000263805.4:c.710A>T	p.Tyr237Phe	p.Y237F	ENST00000263805	NM_022473.1	237	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32208.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTAATTC	NONE	.	.	hmmpanther:PTHR14435	.	.	ENSP00000263805	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000263805	Transcript	.	.	ENSG00000103994	12886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.53)	.	ZN106_HUMAN	ZNF106	HGNC	H3BNX5_HUMAN	.	UPI000006D6CC	SNV	ZNF106,missense_variant,p.Tyr237Phe,ENST00000263805,;ZNF106,missense_variant,p.Tyr20Phe,ENST00000565948,;ZNF106,missense_variant,p.Tyr260Phe,ENST00000564754,;ZNF106,intron_variant,,ENST00000565611,;ZNF106,intron_variant,,ENST00000565380,;ZNF106,downstream_gene_variant,,ENST00000567041,;ZNF106,upstream_gene_variant,,ENST00000565500,;ZNF106,upstream_gene_variant,,ENST00000567772,;	1037	112	90	SUCCESS
ZNF609	23060	.	GRCh37	15	64967423	64967423	+	synonymous_variant	Silent	SNP	T	T	C	rs368660859	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	41	86	0	ENST00000326648.3:c.2370T>C	p.Ala790=	p.A790=	ENST00000326648	NM_015042.1	790	gcT/gcC	0	C:0.0002	.	.	.	.	C	A	protein_coding	YES	CCDS32270.1	2370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTGAAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3	.	C:0	ENSP00000316527	.	4/9	.	.	.	.	.	.	.	.	rs368660859	4/9	PASS	ENST00000326648	Transcript	.	.	ENSG00000180357	29003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN609_HUMAN	ZNF609	HGNC	.	.	UPI00001D7783	SNV	ZNF609,synonymous_variant,p.%3D,ENST00000326648,;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,downstream_gene_variant,,ENST00000559364,;ZNF609,downstream_gene_variant,,ENST00000558680,;	2498	86	75	SUCCESS
CHRNA5	1138	.	GRCh37	15	78873234	78873234	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202057419	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	95	0	ENST00000299565.5:c.188G>A	p.Arg63His	p.R63H	ENST00000299565	NM_000745.3	63	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10304.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGTCCTG	NONE	byCluster	.	hmmpanther:PTHR18945:SF76,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000299565	.	2/6	.	.	.	.	.	.	.	.	rs202057419	2/6	PASS	ENST00000299565	Transcript	1	.	ENSG00000169684	1959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA5_HUMAN	CHRNA5	HGNC	Q6EWN4_HUMAN	.	UPI0000001638	SNV	CHRNA5,missense_variant,p.Arg2His,ENST00000394802,;CHRNA5,missense_variant,p.Arg63His,ENST00000559554,;CHRNA5,missense_variant,p.Arg63His,ENST00000299565,;	388	95	62	SUCCESS
MPV17L	255027	.	GRCh37	16	15501839	15501839	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	86	0	ENST00000396385.3:c.461G>A	p.Gly154Glu	p.G154E	ENST00000396385	NM_001128423.1	154	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45421.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGAGTCT	NONE	.	.	Pfam_domain:PF04117,hmmpanther:PTHR11266:SF9,hmmpanther:PTHR11266	.	.	ENSP00000379669	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396385	Transcript	.	.	ENSG00000156968	26827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MP17L_HUMAN	MPV17L	HGNC	.	.	UPI000067CA92	SNV	MPV17L,stop_gained,p.Trp130Ter,ENST00000287594,;MPV17L,missense_variant,p.Gly154Glu,ENST00000396385,;RP11-1021N1.1,intron_variant,,ENST00000568766,;MPV17L,3_prime_UTR_variant,,ENST00000564148,;RP11-1021N1.1,intron_variant,,ENST00000567442,;RP11-1021N1.1,intron_variant,,ENST00000568222,;	580	86	112	SUCCESS
ABCC1	4363	.	GRCh37	16	16177302	16177302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	130	0	ENST00000399410.3:c.2195T>A	p.Leu732Gln	p.L732Q	ENST00000399410	NM_004996.3	732	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS42122.1	2195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTGGAGG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000382342	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000399410	Transcript	.	.	ENSG00000103222	51	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0.02)	.	MRP1_HUMAN	ABCC1	HGNC	Q9BV39_HUMAN	.	UPI00001FEEFC	SNV	ABCC1,missense_variant,p.Leu732Gln,ENST00000346370,;ABCC1,missense_variant,p.Leu732Gln,ENST00000399408,;ABCC1,missense_variant,p.Leu732Gln,ENST00000345148,;ABCC1,missense_variant,p.Leu631Gln,ENST00000572882,;ABCC1,missense_variant,p.Leu732Gln,ENST00000399410,;ABCC1,intron_variant,,ENST00000349029,;ABCC1,intron_variant,,ENST00000351154,;ABCC1,non_coding_transcript_exon_variant,,ENST00000575422,;	2370	130	125	SUCCESS
GPT2	84706	.	GRCh37	16	46956209	46956209	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777615132	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	53	0	ENST00000340124.4:c.1093G>T	p.Gly365Cys	p.G365C	ENST00000340124	NM_133443.2	365	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS10725.1	1093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGGCCAG	NONE	byFrequency	.	hmmpanther:PTHR11751:SF311,hmmpanther:PTHR11751,Gene3D:3.40.640.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383	.	.	ENSP00000345282	.	9/12	.	.	.	.	.	.	.	.	rs777615132	9/12	PASS	ENST00000340124	Transcript	.	.	ENSG00000166123	18062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious(0.01)	.	ALAT2_HUMAN	GPT2	HGNC	B3KR40_HUMAN	.	UPI000004DBE2	SNV	GPT2,missense_variant,p.Gly365Cys,ENST00000340124,;GPT2,missense_variant,p.Gly265Cys,ENST00000440783,;GPT2,non_coding_transcript_exon_variant,,ENST00000562801,;GPT2,upstream_gene_variant,,ENST00000569193,;	1205	53	46	SUCCESS
ZNF500	26048	.	GRCh37	16	4816079	4816079	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	10	0	ENST00000219478.6:c.-98-2A>T		p.X33_splice	ENST00000219478		33		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32383.1	.	MUTECT|MUSE	.	GGCCCTGTGGA	NONE	.	.	.	.	.	ENSP00000219478	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000219478	Transcript	.	.	ENSG00000103199	23716	.	.	HIGH	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN500_HUMAN	ZNF500	HGNC	Q0VAL1_HUMAN,K7ERS9_HUMAN,K7EPZ1_HUMAN,K7EIH1_HUMAN	.	UPI00001C1FB0	SNV	ZNF500,splice_acceptor_variant,,ENST00000588602,;ZNF500,splice_acceptor_variant,,ENST00000545009,;ZNF500,splice_acceptor_variant,,ENST00000219478,;ZNF500,5_prime_UTR_variant,,ENST00000585977,;ZNF500,upstream_gene_variant,,ENST00000589422,;	.	10	9	SUCCESS
CYLD	1540	.	GRCh37	16	50816274	50816274	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	132	0	ENST00000398568.2:c.1714A>C	p.Thr572Pro	p.T572P	ENST00000398568	NM_001042412.1	572	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS45482.1	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATACTCCA	NONE	.	.	hmmpanther:PTHR11830:SF3,hmmpanther:PTHR11830,Superfamily_domains:SSF74924	.	.	ENSP00000392025	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000427738	Transcript	.	.	ENSG00000083799	2584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	CYLD_HUMAN	CYLD	HGNC	H3BTB8_HUMAN,H3BSW9_HUMAN,H3BPZ5_HUMAN	.	UPI0000073A15	SNV	CYLD,missense_variant,p.Thr390Pro,ENST00000568704,;CYLD,missense_variant,p.Thr572Pro,ENST00000564326,;CYLD,missense_variant,p.Thr572Pro,ENST00000569418,;CYLD,missense_variant,p.Thr572Pro,ENST00000566206,;CYLD,missense_variant,p.Thr575Pro,ENST00000540145,;CYLD,missense_variant,p.Thr575Pro,ENST00000427738,;CYLD,missense_variant,p.Thr572Pro,ENST00000398568,;CYLD,missense_variant,p.Thr575Pro,ENST00000311559,;RP11-327F22.4,downstream_gene_variant,,ENST00000564510,;RP11-327F22.4,downstream_gene_variant,,ENST00000575917,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,downstream_gene_variant,,ENST00000563976,;	1928	132	138	SUCCESS
NUDT21	11051	.	GRCh37	16	56485168	56485168	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	20	0	ENST00000300291.5:c.-54A>C		p.*18*	ENST00000300291	NM_007006.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10760.1	.	RADIA|MUTECT|MUSE	.	AGACTTTCCCC	NONE	.	.	.	.	.	ENSP00000300291	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000300291	Transcript	.	.	ENSG00000167005	13870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPSF5_HUMAN	NUDT21	HGNC	H3BV41_HUMAN,H3BND3_HUMAN	.	UPI0000073E79	SNV	NUDT21,5_prime_UTR_variant,,ENST00000300291,;NUDT21,intron_variant,,ENST00000566340,;NUDT21,upstream_gene_variant,,ENST00000568822,;OGFOD1,upstream_gene_variant,,ENST00000566157,;OGFOD1,upstream_gene_variant,,ENST00000568397,;OGFOD1,upstream_gene_variant,,ENST00000561646,;OGFOD1,upstream_gene_variant,,ENST00000562150,;OGFOD1,upstream_gene_variant,,ENST00000568172,;NUDT21,non_coding_transcript_exon_variant,,ENST00000567110,;OGFOD1,upstream_gene_variant,,ENST00000569645,;OGFOD1,upstream_gene_variant,,ENST00000569802,;OGFOD1,upstream_gene_variant,,ENST00000563733,;OGFOD1,upstream_gene_variant,,ENST00000565682,;OGFOD1,upstream_gene_variant,,ENST00000336111,;	120	20	12	SUCCESS
CHST5	23563	.	GRCh37	16	75563641	75563641	+	synonymous_variant	Silent	SNP	C	C	T	rs766247065	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	60	0	ENST00000336257.3:c.642G>A	p.Ala214=	p.A214=	ENST00000336257	NM_024533.4	214	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10919.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCGCGGG	NONE	.	.	hmmpanther:PTHR10704:SF13,hmmpanther:PTHR10704,Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	rs766247065	3/3	PASS	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,synonymous_variant,p.%3D,ENST00000541075,;CHST5,synonymous_variant,p.%3D,ENST00000336257,;CHST5,downstream_gene_variant,,ENST00000565039,;RP11-77K12.7,3_prime_UTR_variant,,ENST00000460606,;	2037	60	55	SUCCESS
HS3ST3A1	9955	.	GRCh37	17	13504520	13504520	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	56	0	ENST00000284110.1:c.-74G>C		p.*25*	ENST00000284110	NM_006042.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11165.1	.	MUTECT|MUSE	.	ATCCCCCCGGC	NONE	.	.	.	.	.	ENSP00000284110	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000284110	Transcript	.	.	ENSG00000153976	5196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HS3SA_HUMAN	HS3ST3A1	HGNC	J3KSX5_HUMAN	.	UPI000000DAA6	SNV	HS3ST3A1,5_prime_UTR_variant,,ENST00000284110,;	725	56	49	SUCCESS
ULK2	9706	.	GRCh37	17	19699421	19699421	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1302627302	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	14	93	0	ENST00000361658.2:c.1984G>A	p.Ala662Thr	p.A662T	ENST00000361658	NM_001142610.1	662	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11213.1	1984	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCCTTGC	NONE	.	.	hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18,PIRSF_domain:PIRSF000580	.	.	ENSP00000378914	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000395544	Transcript	.	.	ENSG00000083290	13480	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.23)	.	ULK2_HUMAN	ULK2	HGNC	.	.	UPI000013D19B	SNV	ULK2,missense_variant,p.Ala662Thr,ENST00000395544,;ULK2,missense_variant,p.Ala662Thr,ENST00000361658,;ULK2,missense_variant,p.Ala8Thr,ENST00000575432,;ULK2,downstream_gene_variant,,ENST00000580130,;ULK2,non_coding_transcript_exon_variant,,ENST00000571137,;	2484	93	101	SUCCESS
KRTAP4-8	728224	.	GRCh37	17	39254019	39254019	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	49	0	ENST00000333822.4:c.318G>A	p.Val106=	p.V106=	ENST00000333822	NM_031960.2	106	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45674.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACACACA	BUFFER|p.S108R|c.324C>G|5,BUFFER|p.V106M|c.316G>A|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262	.	.	ENSP00000328444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333822	Transcript	.	.	ENSG00000204880	17230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA48_HUMAN	KRTAP4-8	HGNC	.	.	UPI0000366BFD	SNV	KRTAP4-8,synonymous_variant,p.%3D,ENST00000333822,;KRTAP4-16P,downstream_gene_variant,,ENST00000440582,;	375	49	45	SUCCESS
AKAP1	8165	.	GRCh37	17	55183730	55183730	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs538528140	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	96	0	ENST00000337714.3:c.905G>A	p.Gly302Glu	p.G302E	ENST00000337714	NM_003488.3	302	gGa/gAa	0	.	C:0.0008	.	C:0	.	A	G/E	protein_coding	YES	CCDS11594.1	905	RADIA|MUTECT|MUSE	.	CGAGGGAGAAC	NONE	by1000G	.	hmmpanther:PTHR12727	C:0	.	ENSP00000337736	C:0	2/11	.	.	.	.	.	.	.	.	rs538528140	2/11	PASS	ENST00000337714	Transcript	.	C:0.0002	ENSG00000121057	367	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.231)	C:0	tolerated(0.15)	.	AKAP1_HUMAN	AKAP1	HGNC	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN	.	UPI0000125778	SNV	AKAP1,missense_variant,p.Gly302Glu,ENST00000314126,;AKAP1,missense_variant,p.Gly302Glu,ENST00000571629,;AKAP1,missense_variant,p.Gly302Glu,ENST00000337714,;AKAP1,missense_variant,p.Gly302Glu,ENST00000572557,;AKAP1,missense_variant,p.Gly302Glu,ENST00000539273,;AKAP1,missense_variant,p.Gly116Glu,ENST00000576295,;AKAP1,downstream_gene_variant,,ENST00000575322,;AKAP1,downstream_gene_variant,,ENST00000574683,;AKAP1,downstream_gene_variant,,ENST00000575186,;AKAP1,downstream_gene_variant,,ENST00000576591,;AKAP1,downstream_gene_variant,,ENST00000573085,;AKAP1,downstream_gene_variant,,ENST00000572156,;AKAP1,downstream_gene_variant,,ENST00000572814,;AKAP1,downstream_gene_variant,,ENST00000570423,;AKAP1,missense_variant,p.Gly302Glu,ENST00000481416,;AKAP1,upstream_gene_variant,,ENST00000573326,;	1138	96	82	SUCCESS
TEX14	56155	.	GRCh37	17	56676416	56676416	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	64	153	1	ENST00000240361.8:c.2308G>T	p.Glu770Ter	p.E770*	ENST00000240361		770	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS56042.1	2308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCCTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23060	.	.	ENSP00000240361	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,stop_gained,p.Glu764Ter,ENST00000349033,;TEX14,stop_gained,p.Glu764Ter,ENST00000389934,;TEX14,stop_gained,p.Glu770Ter,ENST00000240361,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	2394	154	158	SUCCESS
MARCH10	0	.	GRCh37	17	60821843	60821843	+	synonymous_variant	Silent	SNP	C	C	A	rs199898215	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	78	0	ENST00000311269.5:c.429G>T	p.Leu143=	p.L143=	ENST00000311269	NM_152598.2	143	ctG/ctT	0	.	G:0.0008	.	G:0	.	A	L	protein_coding	YES	CCDS11635.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCAGGTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5	G:0	.	ENSP00000311496	G:0	5/11	.	.	.	.	.	.	.	.	rs199898215,COSM437094	5/11	PASS	ENST00000311269	Transcript	.	G:0.0002	ENSG00000173838	26655	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	G:0	.	0,1	MARHA_HUMAN	MARCH10	HGNC	J3KTK3_HUMAN	.	UPI000013F13A	SNV	MARCH10,synonymous_variant,p.%3D,ENST00000583600,;MARCH10,synonymous_variant,p.%3D,ENST00000456609,;MARCH10,synonymous_variant,p.%3D,ENST00000311269,;MARCH10,synonymous_variant,p.%3D,ENST00000544856,;MARCH10,synonymous_variant,p.%3D,ENST00000580520,;	704	78	66	SUCCESS
MFSD11	79157	.	GRCh37	17	74737074	74737074	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	63	0	ENST00000336509.4:c.188A>G	p.Asn63Ser	p.N63S	ENST00000336509	NM_001242533.1	63	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11750.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAATTTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23294,hmmpanther:PTHR23294:SF7,Gene3D:1.20.1250.20,Pfam_domain:PF05978,Superfamily_domains:SSF103473	.	.	ENSP00000464932	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000588460	Transcript	.	.	ENSG00000092931	25458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	deleterious(0.04)	.	MFS11_HUMAN	MFSD11	HGNC	K7ESK9_HUMAN,K7ELU3_HUMAN	.	UPI0000073F31	SNV	MFSD11,missense_variant,p.Asn63Ser,ENST00000336509,;MFSD11,missense_variant,p.Asn63Ser,ENST00000593181,;MFSD11,missense_variant,p.Asn63Ser,ENST00000586622,;MFSD11,missense_variant,p.Asn63Ser,ENST00000587661,;MFSD11,missense_variant,p.Asn63Ser,ENST00000588460,;MFSD11,missense_variant,p.Asn63Ser,ENST00000355954,;MFSD11,missense_variant,p.Asn63Ser,ENST00000590514,;SRSF2,upstream_gene_variant,,ENST00000392485,;SRSF2,upstream_gene_variant,,ENST00000358156,;SRSF2,upstream_gene_variant,,ENST00000583836,;MFSD11,downstream_gene_variant,,ENST00000591864,;SRSF2,upstream_gene_variant,,ENST00000508921,;RP11-318A15.7,downstream_gene_variant,,ENST00000587459,;MFSD11,downstream_gene_variant,,ENST00000586689,;MFSD11,downstream_gene_variant,,ENST00000590393,;SRSF2,upstream_gene_variant,,ENST00000359995,;MIR636,upstream_gene_variant,,ENST00000384825,;MFSD11,missense_variant,p.Asn63Ser,ENST00000588031,;MFSD11,missense_variant,p.Asn44Ser,ENST00000588768,;MFSD11,missense_variant,p.Asn63Ser,ENST00000588670,;SRSF2,upstream_gene_variant,,ENST00000589919,;SRSF2,upstream_gene_variant,,ENST00000582449,;MFSD11,upstream_gene_variant,,ENST00000585584,;SRSF2,upstream_gene_variant,,ENST00000592676,;SRSF2,upstream_gene_variant,,ENST00000452355,;SRSF2,upstream_gene_variant,,ENST00000585202,;	2230	63	67	SUCCESS
SEPT9	0	.	GRCh37	17	75478440	75478440	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	16	0	ENST00000427177.1:c.913+23A>C		p.*305*	ENST00000427177	NM_001113491.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45790.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCACTCAA	NONE	.	.	.	.	.	ENSP00000391249	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427177	Transcript	.	.	ENSG00000184640	7323	.	.	MODIFIER	4/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEPT9_HUMAN	SEPT9	HGNC	Q96QF2_HUMAN,K7ERG1_HUMAN,K7ER52_HUMAN,K7EQD7_HUMAN,K7ENQ5_HUMAN,K7EN52_HUMAN,K7ELJ9_HUMAN,K7EL40_HUMAN,K7EKN4_HUMAN,K7EK18_HUMAN,K7EJZ2_HUMAN,K7EIR4_HUMAN,K7EIE4_HUMAN	.	UPI00001AF955	SNV	SEPT9,synonymous_variant,p.%3D,ENST00000592420,;SEPT9,intron_variant,,ENST00000427674,;SEPT9,intron_variant,,ENST00000591198,;SEPT9,intron_variant,,ENST00000592951,;SEPT9,intron_variant,,ENST00000591704,;SEPT9,intron_variant,,ENST00000590917,;SEPT9,intron_variant,,ENST00000590294,;SEPT9,intron_variant,,ENST00000585638,;SEPT9,intron_variant,,ENST00000427180,;SEPT9,intron_variant,,ENST00000585930,;SEPT9,intron_variant,,ENST00000590059,;SEPT9,intron_variant,,ENST00000449803,;SEPT9,intron_variant,,ENST00000585929,;SEPT9,intron_variant,,ENST00000586521,;SEPT9,intron_variant,,ENST00000589920,;SEPT9,intron_variant,,ENST00000431235,;SEPT9,intron_variant,,ENST00000329047,;SEPT9,intron_variant,,ENST00000541152,;SEPT9,intron_variant,,ENST00000591088,;SEPT9,intron_variant,,ENST00000588690,;SEPT9,intron_variant,,ENST00000586128,;SEPT9,intron_variant,,ENST00000590938,;SEPT9,intron_variant,,ENST00000588958,;SEPT9,intron_variant,,ENST00000591020,;SEPT9,intron_variant,,ENST00000586433,;SEPT9,intron_variant,,ENST00000593189,;SEPT9,intron_variant,,ENST00000427177,;SEPT9,intron_variant,,ENST00000591472,;SEPT9,intron_variant,,ENST00000423034,;SEPT9,intron_variant,,ENST00000592481,;SEPT9,intron_variant,,ENST00000588575,;	.	16	36	SUCCESS
CTC1	80169	.	GRCh37	17	8141726	8141726	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766509235	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	45	102	0	ENST00000315684.8:c.419G>T	p.Gly140Val	p.G140V	ENST00000315684	NM_025099.5	140	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42259.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCCAGTG	NONE	.	.	hmmpanther:PTHR14865,Pfam_domain:PF15489	.	.	ENSP00000313759	.	3/23	.	.	.	.	.	.	.	.	rs766509235	3/23	PASS	ENST00000315684	Transcript	.	.	ENSG00000178971	26169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CTC1_HUMAN	CTC1	HGNC	.	.	UPI000041A9A9	SNV	CTC1,missense_variant,p.Gly140Val,ENST00000315684,;CTC1,non_coding_transcript_exon_variant,,ENST00000581671,;CTC1,missense_variant,p.Gly140Val,ENST00000449476,;CTC1,non_coding_transcript_exon_variant,,ENST00000584842,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,upstream_gene_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000583254,;	427	102	97	SUCCESS
STX8	9482	.	GRCh37	17	9460750	9460750	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	87	0	ENST00000306357.4:c.212+1G>A		p.X71_splice	ENST00000306357	NM_004853.2	71		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32565.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATACATCTG	NONE	.	.	.	.	.	ENSP00000305255	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306357	Transcript	.	.	ENSG00000170310	11443	.	.	HIGH	3/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX8_HUMAN	STX8	HGNC	K7EQB1_HUMAN,I3L305_HUMAN	.	UPI0000136169	SNV	STX8,splice_donor_variant,,ENST00000306357,;STX8,splice_donor_variant,,ENST00000573016,;STX8,splice_donor_variant,,ENST00000574431,;RP11-565F19.2,upstream_gene_variant,,ENST00000607496,;STX8,splice_donor_variant,,ENST00000573373,;STX8,splice_donor_variant,,ENST00000573881,;STX8,non_coding_transcript_exon_variant,,ENST00000574382,;STX8,intron_variant,,ENST00000575858,;STX8,intron_variant,,ENST00000575294,;	.	87	69	SUCCESS
POTEC	388468	.	GRCh37	18	14542896	14542896	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	270	13	331	0	ENST00000358970.5:c.250G>A	p.Gly84Arg	p.G84R	ENST00000358970	NM_001137671.1	84	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS45835.1	250	MUTECT|MUSE	.	GTCTCCAGAAG	NONE	.	.	hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118	.	.	ENSP00000351856	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious_low_confidence(0.02)	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,missense_variant,p.Gly84Arg,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Gly84Arg,ENST00000511306,;	250	331	283	SUCCESS
ZNF521	25925	.	GRCh37	18	22805711	22805711	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	57	126	0	ENST00000361524.3:c.2171G>T	p.Cys724Phe	p.C724F	ENST00000361524	NM_015461.2	724	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS32806.1	2171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCAGCGA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13894,Gene3D:3.30.40.10,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Cys724Phe,ENST00000538137,;ZNF521,missense_variant,p.Cys504Phe,ENST00000584787,;ZNF521,missense_variant,p.Cys724Phe,ENST00000361524,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Cys724Phe,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	2320	126	148	SUCCESS
BOD1L2	284257	.	GRCh37	18	54814759	54814759	+	synonymous_variant	Silent	SNP	G	G	T	rs776760887	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	23	0	ENST00000585477.1:c.216G>T	p.Leu72=	p.L72=	ENST00000585477	NM_001257964.1	72	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS59322.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGAGCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31532,Pfam_domain:PF05205	.	.	ENSP00000467843	.	1/1	.	.	.	.	.	.	.	.	rs776760887	1/1	PASS	ENST00000585477	Transcript	.	.	ENSG00000228075	28505	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BD1L2_HUMAN	BOD1L2	HGNC	.	.	UPI000006F702	SNV	BOD1L2,synonymous_variant,p.%3D,ENST00000585477,;CTD-2526M8.3,upstream_gene_variant,,ENST00000590942,;	467	23	28	SUCCESS
NEDD4L	23327	.	GRCh37	18	55833084	55833084	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	104	0	ENST00000400345.3:c.113T>A	p.Phe38Tyr	p.F38Y	ENST00000400345	NM_001144967.2	38	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS45872.1	113	RADIA|MUTECT|MUSE|VARSCANS	.	CATCTTTGGAG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF49562,Prints_domain:PR00360	.	.	ENSP00000383199	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.285)	.	deleterious(0)	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,missense_variant,p.Phe30Tyr,ENST00000586263,;NEDD4L,missense_variant,p.Phe30Tyr,ENST00000357895,;NEDD4L,missense_variant,p.Phe38Tyr,ENST00000400345,;NEDD4L,missense_variant,p.Phe38Tyr,ENST00000356462,;NEDD4L,missense_variant,p.Phe38Tyr,ENST00000256830,;NEDD4L,missense_variant,p.Phe38Tyr,ENST00000382850,;NEDD4L,5_prime_UTR_variant,,ENST00000256832,;NEDD4L,5_prime_UTR_variant,,ENST00000592846,;NEDD4L,5_prime_UTR_variant,,ENST00000435432,;NEDD4L,5_prime_UTR_variant,,ENST00000456986,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590694,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000585363,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000591989,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000588516,;NEDD4L,downstream_gene_variant,,ENST00000591579,;NEDD4L,downstream_gene_variant,,ENST00000587547,;NEDD4L,downstream_gene_variant,,ENST00000585594,;	396	104	77	SUCCESS
SERPINB13	5275	.	GRCh37	18	61260116	61260116	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs778055711	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	80	0	ENST00000344731.5:c.383A>G	p.Tyr128Cys	p.Y128C	ENST00000344731	NM_012397.3	128	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11985.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTATCATG	NONE	byFrequency	.	hmmpanther:PTHR11461:SF152,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000341584	.	5/8	.	.	.	.	.	.	.	.	rs778055711	5/8	PASS	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,missense_variant,p.Tyr158Cys,ENST00000431153,;SERPINB13,missense_variant,p.Tyr128Cys,ENST00000344731,;SERPINB13,missense_variant,p.Tyr128Cys,ENST00000269489,;SERPINB13,intron_variant,,ENST00000415733,;SERPINB13,missense_variant,p.Tyr127Cys,ENST00000438844,;SERPINB13,downstream_gene_variant,,ENST00000479842,;	485	80	91	SUCCESS
CDC37	11140	.	GRCh37	19	10514108	10514108	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	41	0	ENST00000222005.2:c.48A>C	p.Glu16Asp	p.E16D	ENST00000222005	NM_007065.3	16	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS12237.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCTTCATC	NONE	.	.	hmmpanther:PTHR12800,hmmpanther:PTHR12800:SF3,Pfam_domain:PF03234,SMART_domains:SM01071	.	.	ENSP00000222005	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000222005	Transcript	.	.	ENSG00000105401	1735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CDC37_HUMAN	CDC37	HGNC	.	.	UPI000012723D	SNV	CDC37,missense_variant,p.Glu16Asp,ENST00000589629,;CDC37,missense_variant,p.Glu16Asp,ENST00000222005,;CDC37,missense_variant,p.Glu16Asp,ENST00000593124,;MIR1181,downstream_gene_variant,,ENST00000408639,;CDC37,missense_variant,p.Glu16Asp,ENST00000588869,;CDC37,non_coding_transcript_exon_variant,,ENST00000591248,;	102	41	39	SUCCESS
MED26	9441	.	GRCh37	19	16688436	16688436	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	48	0	ENST00000263390.3:c.205C>A	p.Leu69Ile	p.L69I	ENST00000263390	NM_004831.3	69	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS12347.1	205	MUTECT|MUSE	.	GGCGAGCTCCT	NONE	.	.	Superfamily_domains:SSF47676,SMART_domains:SM00509,Gene3D:1.20.930.10,Pfam_domain:PF08711,hmmpanther:PTHR15201,PROSITE_profiles:PS51319	.	.	ENSP00000263390	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000263390	Transcript	.	.	ENSG00000105085	2376	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.68)	.	deleterious(0.01)	.	MED26_HUMAN	MED26	HGNC	M0R2P1_HUMAN,M0QXW8_HUMAN	.	UPI000013D3FC	SNV	MED26,missense_variant,p.Leu42Ile,ENST00000598492,;MED26,missense_variant,p.Leu69Ile,ENST00000263390,;MED26,missense_variant,p.Leu191Ile,ENST00000598608,;MED26,missense_variant,p.Leu42Ile,ENST00000601478,;CTC-429P9.4,downstream_gene_variant,,ENST00000593459,;MED26,downstream_gene_variant,,ENST00000600060,;CTC-429P9.4,downstream_gene_variant,,ENST00000593962,;CTD-3222D19.2,missense_variant,p.Leu77Ile,ENST00000409035,;MED26,non_coding_transcript_exon_variant,,ENST00000597244,;CTC-429P9.4,downstream_gene_variant,,ENST00000601636,;CTC-429P9.4,downstream_gene_variant,,ENST00000595505,;CTC-429P9.4,downstream_gene_variant,,ENST00000593991,;CTC-429P9.4,downstream_gene_variant,,ENST00000594509,;CTC-429P9.4,downstream_gene_variant,,ENST00000600705,;	468	48	37	SUCCESS
CPAMD8	27151	.	GRCh37	19	17004084	17004084	+	synonymous_variant	Silent	SNP	G	G	A	rs1413275739	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	60	0	ENST00000443236.1:c.5634C>T	p.Ser1878=	p.S1878=	ENST00000443236	NM_015692.2	1878	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42519.1	5634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGGGCTGGC	NONE	.	.	.	.	.	ENSP00000402505	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,synonymous_variant,p.%3D,ENST00000443236,;CPAMD8,3_prime_UTR_variant,,ENST00000594249,;CPAMD8,downstream_gene_variant,,ENST00000599287,;F2RL3,downstream_gene_variant,,ENST00000248076,;CPAMD8,downstream_gene_variant,,ENST00000598792,;F2RL3,downstream_gene_variant,,ENST00000599210,;CPAMD8,downstream_gene_variant,,ENST00000598547,;CPAMD8,downstream_gene_variant,,ENST00000602132,;CPAMD8,downstream_gene_variant,,ENST00000597335,;CPAMD8,downstream_gene_variant,,ENST00000595323,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000600235,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000596224,;CPAMD8,downstream_gene_variant,,ENST00000597709,;CPAMD8,downstream_gene_variant,,ENST00000593739,;CPAMD8,downstream_gene_variant,,ENST00000596572,;CPAMD8,downstream_gene_variant,,ENST00000601782,;CPAMD8,downstream_gene_variant,,ENST00000598104,;	5666	60	54	SUCCESS
GATAD2A	54815	.	GRCh37	19	19612126	19612126	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	52	144	0	ENST00000358713.3:c.1401G>A	p.Gln467=	p.Q467=	ENST00000358713		467	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS12402.2	1401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13455,hmmpanther:PTHR13455:SF3	.	.	ENSP00000353463	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000360315	Transcript	.	.	ENSG00000167491	29989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P66A_HUMAN	GATAD2A	HGNC	C9JVY3_HUMAN,C9JMI3_HUMAN,C9JJK9_HUMAN,C9JHD7_HUMAN,C9JGN4_HUMAN	.	UPI000000D88C	SNV	GATAD2A,synonymous_variant,p.%3D,ENST00000404158,;GATAD2A,synonymous_variant,p.%3D,ENST00000429563,;GATAD2A,synonymous_variant,p.%3D,ENST00000537887,;GATAD2A,synonymous_variant,p.%3D,ENST00000358713,;GATAD2A,synonymous_variant,p.%3D,ENST00000252577,;GATAD2A,synonymous_variant,p.%3D,ENST00000360315,;GATAD2A,3_prime_UTR_variant,,ENST00000418032,;GATAD2A,3_prime_UTR_variant,,ENST00000609040,;	1713	144	136	SUCCESS
TSHZ3	57616	.	GRCh37	19	31767550	31767550	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	70	215	0	ENST00000240587.4:c.3149T>C	p.Phe1050Ser	p.F1050S	ENST00000240587	NM_020856.2	1050	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS12421.2	3149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAAAGGTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	COSM1524856,COSM1524855	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,missense_variant,p.Phe1050Ser,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	3477	215	170	SUCCESS
CD22	933	.	GRCh37	19	35829095	35829095	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	101	1	ENST00000085219.5:c.1010A>T	p.Gln337Leu	p.Q337L	ENST00000085219	NM_001771.3	337	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12457.1	1010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGATCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39	.	.	ENSP00000085219	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000085219	Transcript	.	.	ENSG00000012124	1643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.05)	.	CD22_HUMAN	CD22	HGNC	Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN	.	UPI000012733D	SNV	CD22,missense_variant,p.Gln337Leu,ENST00000544992,;CD22,missense_variant,p.Gln217Leu,ENST00000270311,;CD22,missense_variant,p.Gln337Leu,ENST00000085219,;CD22,missense_variant,p.Gln165Leu,ENST00000419549,;CD22,intron_variant,,ENST00000600424,;CD22,intron_variant,,ENST00000341773,;CD22,intron_variant,,ENST00000594250,;CD22,intron_variant,,ENST00000599811,;CD22,intron_variant,,ENST00000536635,;CD22,downstream_gene_variant,,ENST00000600131,;CD22,downstream_gene_variant,,ENST00000593867,;CD22,downstream_gene_variant,,ENST00000597916,;CD22,non_coding_transcript_exon_variant,,ENST00000601329,;CD22,intron_variant,,ENST00000597433,;CD22,intron_variant,,ENST00000598815,;CD22,downstream_gene_variant,,ENST00000598138,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000601414,;CD22,downstream_gene_variant,,ENST00000600905,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,intron_variant,,ENST00000600655,;CD22,upstream_gene_variant,,ENST00000594125,;CD22,upstream_gene_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000599717,;CD22,downstream_gene_variant,,ENST00000594349,;CD22,downstream_gene_variant,,ENST00000596492,;	1076	102	93	SUCCESS
SUPT5H	6829	.	GRCh37	19	39961060	39961060	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	111	0	ENST00000432763.2:c.1574C>T	p.Ala525Val	p.A525V	ENST00000432763	NM_001111020.2	525	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12536.1	1574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCATCAG	NONE	.	.	hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945	.	.	ENSP00000470252	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000599117	Transcript	.	.	ENSG00000196235	11469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	SPT5H_HUMAN	SUPT5H	HGNC	M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN	.	UPI000006D81A	SNV	SUPT5H,missense_variant,p.Ala525Val,ENST00000432763,;SUPT5H,missense_variant,p.Ala525Val,ENST00000598725,;SUPT5H,missense_variant,p.Ala521Val,ENST00000402194,;SUPT5H,missense_variant,p.Ala525Val,ENST00000599117,;SUPT5H,missense_variant,p.Ala521Val,ENST00000359191,;SUPT5H,downstream_gene_variant,,ENST00000593727,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000599335,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000598117,;SUPT5H,downstream_gene_variant,,ENST00000598520,;SUPT5H,upstream_gene_variant,,ENST00000596208,;	1941	111	100	SUCCESS
FOSB	2354	.	GRCh37	19	45976262	45976262	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780157288	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	51	0	ENST00000353609.3:c.1009G>T	p.Ala337Ser	p.A337S	ENST00000353609	NM_006732.2	337	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS12664.1	1009	MUTECT|MUSE	.	TCCTCGCTCTG	NONE	.	.	hmmpanther:PTHR23351:SF3,hmmpanther:PTHR23351	.	.	ENSP00000245919	.	4/4	.	.	.	.	.	.	.	.	rs780157288	4/4	PASS	ENST00000353609	Transcript	.	.	ENSG00000125740	3797	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	FOSB_HUMAN	FOSB	HGNC	Q49AD7_HUMAN,K7ERZ8_HUMAN,K7EKC1_HUMAN,K7EKA0_HUMAN	.	UPI000004F5D2	SNV	FOSB,missense_variant,p.Ala288Ser,ENST00000586615,;FOSB,missense_variant,p.Ala301Ser,ENST00000417353,;FOSB,missense_variant,p.Ala262Ser,ENST00000585836,;FOSB,missense_variant,p.Ala298Ser,ENST00000591858,;FOSB,missense_variant,p.Ala194Ser,ENST00000443841,;FOSB,missense_variant,p.Ala337Ser,ENST00000353609,;FOSB,3_prime_UTR_variant,,ENST00000592811,;FOSB,3_prime_UTR_variant,,ENST00000592436,;ERCC1,intron_variant,,ENST00000423698,;FOSB,downstream_gene_variant,,ENST00000589593,;FOSB,downstream_gene_variant,,ENST00000590335,;FOSB,non_coding_transcript_exon_variant,,ENST00000587358,;FOSB,downstream_gene_variant,,ENST00000586113,;	1601	51	41	SUCCESS
ZNF347	84671	.	GRCh37	19	53652026	53652026	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	143	0	ENST00000334197.7:c.179T>A	p.Leu60Ter	p.L60*	ENST00000334197	NM_032584.2	60	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS54314.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAACATA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000405218	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,stop_gained,p.Leu61Ter,ENST00000601469,;ZNF347,stop_gained,p.Leu61Ter,ENST00000452676,;ZNF347,stop_gained,p.Leu2Ter,ENST00000601804,;ZNF347,stop_gained,p.Leu24Ter,ENST00000595967,;ZNF347,stop_gained,p.Leu2Ter,ENST00000597183,;ZNF347,stop_gained,p.Leu60Ter,ENST00000334197,;ZNF347,downstream_gene_variant,,ENST00000599096,;ZNF347,downstream_gene_variant,,ENST00000595710,;	609	144	140	SUCCESS
BIRC8	112401	.	GRCh37	19	53793436	53793436	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	81	214	1	ENST00000426466.1:c.192A>T	p.Pro64=	p.P64=	ENST00000426466	NM_033341.4	64	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12863.1	192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGGATA	NONE	.	.	PROSITE_profiles:PS50143,hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,PROSITE_patterns:PS01282,Gene3D:1.10.1170.10,Pfam_domain:PF00653,SMART_domains:SM00238,Superfamily_domains:SSF57924	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,synonymous_variant,p.%3D,ENST00000426466,;	1440	215	199	SUCCESS
LENG8	114823	.	GRCh37	19	54964820	54964820	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	20	0	ENST00000326764.5:c.411A>G	p.Gln137=	p.Q137=	ENST00000326764	NM_052925.2	137	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS12894.1	411	MUTECT|MUSE|VARSCANS	.	CACCAAGGGAC	NONE	.	.	hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,synonymous_variant,p.%3D,ENST00000326764,;LENG8,synonymous_variant,p.%3D,ENST00000431846,;LENG8,synonymous_variant,p.%3D,ENST00000439657,;LENG8,intron_variant,,ENST00000376514,;LENG8,intron_variant,,ENST00000376526,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8-AS1,upstream_gene_variant,,ENST00000429922,;LENG8-AS1,upstream_gene_variant,,ENST00000448978,;LENG8,downstream_gene_variant,,ENST00000462541,;	890	20	21	SUCCESS
NMNAT1	64802	.	GRCh37	1	10042386	10042386	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	85	0	ENST00000377205.1:c.467G>T	p.Gly156Val	p.G156V	ENST00000377205	NM_022787.3	156	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS108.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGGGCAG	NONE	.	.	hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF3,TIGRFAM_domain:TIGR00482,Gene3D:3.40.50.620,Pfam_domain:PF01467,Superfamily_domains:SSF52374	.	.	ENSP00000366410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377205	Transcript	.	.	ENSG00000173614	17877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NMNA1_HUMAN	NMNAT1	HGNC	.	.	UPI0000041261	SNV	NMNAT1,missense_variant,p.Gly156Val,ENST00000377205,;NMNAT1,intron_variant,,ENST00000496751,;NMNAT1,downstream_gene_variant,,ENST00000403197,;RP11-807G9.2,upstream_gene_variant,,ENST00000413148,;NMNAT1,missense_variant,p.Gly156Val,ENST00000462686,;	611	85	76	SUCCESS
CSF1	1435	.	GRCh37	1	110465986	110465986	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750809815	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	63	0	ENST00000329608.6:c.743G>T	p.Ser248Ile	p.S248I	ENST00000329608	NM_000757.5	248	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS816.1	743	MUTECT|MUSE	.	AGGCAGTGCCA	NONE	byFrequency	.	PIRSF_domain:PIRSF001948,Pfam_domain:PF05337,hmmpanther:PTHR10058	.	.	ENSP00000327513	.	6/9	.	.	.	.	.	.	.	.	rs750809815	6/9	PASS	ENST00000329608	Transcript	.	.	ENSG00000184371	2432	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.73)	.	deleterious(0.01)	.	CSF1_HUMAN	CSF1	HGNC	H7BY18_HUMAN,E9PKP4_HUMAN	.	UPI00001AFA6F	SNV	CSF1,missense_variant,p.Ser207Ile,ENST00000488198,;CSF1,missense_variant,p.Ser248Ile,ENST00000369801,;CSF1,missense_variant,p.Ser248Ile,ENST00000369802,;CSF1,missense_variant,p.Ser248Ile,ENST00000329608,;CSF1,missense_variant,p.Ser248Ile,ENST00000344188,;CSF1,intron_variant,,ENST00000420111,;CSF1,downstream_gene_variant,,ENST00000527192,;CSF1,downstream_gene_variant,,ENST00000525659,;CSF1,downstream_gene_variant,,ENST00000526001,;	1134	64	41	SUCCESS
CHIA	27159	.	GRCh37	1	111861228	111861228	+	synonymous_variant	Silent	SNP	T	T	A	rs771983169	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	136	0	ENST00000343320.6:c.843T>A	p.Ile281=	p.I281=	ENST00000343320		281	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS41368.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATTGGTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11177:SF37,hmmpanther:PTHR11177,Gene3D:3.10.50.10,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF54556	.	.	ENSP00000358755	.	9/12	.	.	.	.	.	.	.	.	rs771983169	9/12	PASS	ENST00000369740	Transcript	.	.	ENSG00000134216	17432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHIA_HUMAN	CHIA	HGNC	E9PLJ2_HUMAN	.	UPI00000727DC	SNV	CHIA,synonymous_variant,p.%3D,ENST00000369740,;CHIA,synonymous_variant,p.%3D,ENST00000343320,;CHIA,synonymous_variant,p.%3D,ENST00000489524,;CHIA,synonymous_variant,p.%3D,ENST00000430615,;CHIA,synonymous_variant,p.%3D,ENST00000483391,;CHIA,synonymous_variant,p.%3D,ENST00000353665,;CHIA,synonymous_variant,p.%3D,ENST00000451398,;CHIA,synonymous_variant,p.%3D,ENST00000422815,;RP5-1125M8.2,intron_variant,,ENST00000426321,;CHIA,3_prime_UTR_variant,,ENST00000352594,;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,;	946	136	83	SUCCESS
PTGFRN	5738	.	GRCh37	1	117487437	117487437	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	61	0	ENST00000393203.2:c.555G>T	p.Trp185Cys	p.W185C	ENST00000393203	NM_020440.2	185	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS890.1	555	MUTECT|MUSE	.	CTGTGGGAGGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR12207:SF3,hmmpanther:PTHR12207,PROSITE_profiles:PS50835	.	.	ENSP00000376899	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000393203	Transcript	.	.	ENSG00000134247	9601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	FPRP_HUMAN	PTGFRN	HGNC	Q9H3U3_HUMAN	.	UPI000012ABC4	SNV	PTGFRN,missense_variant,p.Trp185Cys,ENST00000393203,;	702	61	38	SUCCESS
HAX1	10456	.	GRCh37	1	154245239	154245239	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	25	103	0	ENST00000328703.7:c.40C>A	p.Pro14Thr	p.P14T	ENST00000328703	NM_006118.3	14	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS1064.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCCTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14938,PIRSF_domain:PIRSF037634	.	.	ENSP00000329002	.	1/7	.	.	.	.	.	.	.	.	COSM3474654	1/7	PASS	ENST00000328703	Transcript	.	.	ENSG00000143575	16915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.281)	.	deleterious(0.01)	1	HAX1_HUMAN	HAX1	HGNC	E9PIQ7_HUMAN	.	UPI000012C0B6	SNV	HAX1,missense_variant,p.Pro14Thr,ENST00000435087,;HAX1,missense_variant,p.Pro14Thr,ENST00000328703,;HAX1,missense_variant,p.Pro14Thr,ENST00000483970,;HAX1,missense_variant,p.Pro14Thr,ENST00000457918,;HAX1,5_prime_UTR_variant,,ENST00000532105,;UBAP2L,downstream_gene_variant,,ENST00000428595,;UBAP2L,downstream_gene_variant,,ENST00000433615,;UBAP2L,downstream_gene_variant,,ENST00000271877,;UBAP2L,downstream_gene_variant,,ENST00000361546,;UBAP2L,downstream_gene_variant,,ENST00000428931,;UBAP2L,downstream_gene_variant,,ENST00000484819,;UBAP2L,downstream_gene_variant,,ENST00000493867,;HAX1,missense_variant,p.Pro14Thr,ENST00000447768,;HAX1,non_coding_transcript_exon_variant,,ENST00000531435,;HAX1,non_coding_transcript_exon_variant,,ENST00000477780,;HAX1,upstream_gene_variant,,ENST00000471326,;HAX1,upstream_gene_variant,,ENST00000492550,;HAX1,upstream_gene_variant,,ENST00000459914,;	253	103	119	SUCCESS
PYGO2	90780	.	GRCh37	1	154931785	154931785	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768834235	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	12	132	0	ENST00000368457.2:c.691G>A	p.Gly231Ser	p.G231S	ENST00000368457	NM_138300.3	231	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1075.1	691	MUTECT|MUSE|VARSCANS	.	CTGACCAGGTC	NONE	.	.	hmmpanther:PTHR23194:SF7,hmmpanther:PTHR23194	.	.	ENSP00000357442	.	3/3	.	.	.	.	.	.	.	.	rs768834235	3/3	PASS	ENST00000368457	Transcript	.	.	ENSG00000163348	30257	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(1)	.	PYGO2_HUMAN	PYGO2	HGNC	Q5T171_HUMAN,Q5T170_HUMAN	.	UPI00000015CD	SNV	PYGO2,missense_variant,p.Gly194Ser,ENST00000368456,;PYGO2,missense_variant,p.Gly231Ser,ENST00000368457,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000448116,;SHC1,downstream_gene_variant,,ENST00000368445,;PBXIP1,upstream_gene_variant,,ENST00000368460,;PBXIP1,upstream_gene_variant,,ENST00000539880,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000368453,;PBXIP1,upstream_gene_variant,,ENST00000368465,;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000368463,;SHC1,downstream_gene_variant,,ENST00000368450,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	863	132	143	SUCCESS
OR10K2	391107	.	GRCh37	1	158390373	158390373	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781378825	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	38	108	0	ENST00000314902.2:c.284T>A	p.Leu95Gln	p.L95Q	ENST00000314902	NM_001004476.1	95	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS30896.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGGAAA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF325,PROSITE_profiles:PS50262	.	.	ENSP00000324251	.	1/1	.	.	.	.	.	.	.	.	rs781378825	1/1	PASS	ENST00000314902	Transcript	.	.	ENSG00000180708	14826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	tolerated(0.43)	.	O10K2_HUMAN	OR10K2	HGNC	.	.	UPI0000041BC2	SNV	OR10K2,missense_variant,p.Leu95Gln,ENST00000314902,;	284	108	133	SUCCESS
TNFSF18	8995	.	GRCh37	1	173010529	173010529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	86	112	0	ENST00000404377.3:c.578C>T	p.Ala193Val	p.A193V	ENST00000404377	NM_005092.3	193	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1305.2	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGCTAGT	NONE	.	.	hmmpanther:PTHR15267:SF0,hmmpanther:PTHR15267,Gene3D:2.60.120.40	.	.	ENSP00000385470	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000404377	Transcript	.	.	ENSG00000120337	11932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.1)	.	TNF18_HUMAN	TNFSF18	HGNC	.	.	UPI000153D776	SNV	TNFSF18,missense_variant,p.Ala171Val,ENST00000239468,;TNFSF18,missense_variant,p.Ala193Val,ENST00000404377,;RP1-15D23.2,intron_variant,,ENST00000432694,;	579	112	139	SUCCESS
AXDND1	126859	.	GRCh37	1	179452348	179452348	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	35	181	0	ENST00000367618.3:c.2083C>A	p.Gln695Lys	p.Q695K	ENST00000367618	NM_144696.5	695	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS30948.1	2083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCAGCAC	NONE	.	.	hmmpanther:PTHR23052	.	.	ENSP00000356590	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000367618	Transcript	.	.	ENSG00000162779	26564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.24)	.	AXDN1_HUMAN	AXDND1	HGNC	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	.	UPI000022AC91	SNV	AXDND1,missense_variant,p.Gln629Lys,ENST00000434088,;AXDND1,missense_variant,p.Gln695Lys,ENST00000367618,;AXDND1,3_prime_UTR_variant,,ENST00000457238,;AL160286.1,intron_variant,,ENST00000600581,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	2470	181	182	SUCCESS
RGSL1	353299	.	GRCh37	1	182458311	182458311	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	30	114	0	ENST00000294854.8:c.1691A>C	p.Glu564Ala	p.E564A	ENST00000294854	NM_001137669.1	564	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS58049.1	1691	RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGAGCTGA	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845	.	.	ENSP00000457748	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.408)	.	deleterious(0.01)	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,missense_variant,p.Glu564Ala,ENST00000294854,;RGSL1,missense_variant,p.Glu599Ala,ENST00000542961,;RGSL1,missense_variant,p.Glu599Ala,ENST00000443996,;RGSL1,intron_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000422241,;RGSL1,downstream_gene_variant,,ENST00000416676,;RGSL1,downstream_gene_variant,,ENST00000367561,;RGSL1,upstream_gene_variant,,ENST00000436031,;	1711	114	159	SUCCESS
EMC1	23065	.	GRCh37	1	19568962	19568962	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	29	68	0	ENST00000477853.1:c.386A>T	p.Gln129Leu	p.Q129L	ENST00000477853	NM_001271427.1	129	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS190.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGGAAA	NONE	.	.	Superfamily_domains:SSF50998,Gene3D:2.140.10.10,Pfam_domain:PF13360,hmmpanther:PTHR21573,hmmpanther:PTHR21573:SF0	.	.	ENSP00000420608	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000477853	Transcript	.	.	ENSG00000127463	28957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.816)	.	deleterious(0.01)	.	EMC1_HUMAN	EMC1	HGNC	.	.	UPI0000070A23	SNV	EMC1,missense_variant,p.Gln107Leu,ENST00000375208,;EMC1,missense_variant,p.Gln129Leu,ENST00000375199,;EMC1,missense_variant,p.Gln129Leu,ENST00000477853,;EMC1,downstream_gene_variant,,ENST00000356068,;RP1-43E13.2,downstream_gene_variant,,ENST00000437898,;EMC1,upstream_gene_variant,,ENST00000467423,;EMC1,downstream_gene_variant,,ENST00000488681,;EMC1,downstream_gene_variant,,ENST00000475079,;	429	68	50	SUCCESS
MIR181B1	406955	.	GRCh37	1	198828031	198828031	+	mature_miRNA_variant	RNA	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	23	116	0	ENST00000385240.1:n.81T>C		p.*27*	ENST00000385240				0	.	.	.	.	.	G	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCAGTGAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385240	Transcript	.	.	ENSG00000207975	31550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MIR181B1	HGNC	.	.	.	SNV	MIR181B1,non_coding_transcript_exon_variant,,ENST00000385240,;MIR181A1HG,intron_variant,,ENST00000432296,;MIR181A1,downstream_gene_variant,,ENST00000385026,;	81	116	156	SUCCESS
MYBPH	4608	.	GRCh37	1	203137795	203137795	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142531472	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	114	0	ENST00000255416.4:c.1426G>A	p.Ala476Thr	p.A476T	ENST00000255416	NM_004997.2	476	Gca/Aca	0	T:0.0005	.	.	.	.	T	A/T	protein_coding	YES	CCDS30975.1	1426	MUTECT|MUSE	.	GTGTGCGGCTG	NONE	byCluster	.	.	.	T:0	ENSP00000255416	.	10/11	.	.	.	.	.	.	.	.	rs142531472	10/11	PASS	ENST00000255416	Transcript	.	.	ENSG00000133055	7552	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	MYBPH_HUMAN	MYBPH	HGNC	.	.	UPI000000DA7B	SNV	MYBPH,missense_variant,p.Ala476Thr,ENST00000255416,;ADORA1,downstream_gene_variant,,ENST00000367236,;ADORA1,downstream_gene_variant,,ENST00000309502,;ADORA1,downstream_gene_variant,,ENST00000337894,;ADORA1,downstream_gene_variant,,ENST00000367235,;ADORA1,downstream_gene_variant,,ENST00000467253,;ADORA1,downstream_gene_variant,,ENST00000472535,;ADORA1,downstream_gene_variant,,ENST00000464019,;	1484	114	129	SUCCESS
TRIM11	81559	.	GRCh37	1	228588704	228588704	+	synonymous_variant	Silent	SNP	G	G	A	rs763571305	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	42	74	0	ENST00000284551.6:c.696C>T	p.Leu232=	p.L232=	ENST00000284551	NM_145214.2	232	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31048.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGAGCTC	NONE	byFrequency	.	hmmpanther:PTHR24103:SF254,hmmpanther:PTHR24103	.	.	ENSP00000284551	.	3/6	.	.	.	.	.	.	.	.	rs763571305	3/6	PASS	ENST00000284551	Transcript	.	.	ENSG00000154370	16281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI11_HUMAN	TRIM11	HGNC	.	.	UPI000005340A	SNV	TRIM11,synonymous_variant,p.%3D,ENST00000493030,;TRIM11,synonymous_variant,p.%3D,ENST00000366699,;TRIM11,synonymous_variant,p.%3D,ENST00000284551,;TRIM11,intron_variant,,ENST00000602308,;TRIM11,intron_variant,,ENST00000602582,;RP11-245P10.8,downstream_gene_variant,,ENST00000602963,;TRIM11,non_coding_transcript_exon_variant,,ENST00000460651,;TRIM11,upstream_gene_variant,,ENST00000475775,;	975	74	78	SUCCESS
PCNXL2	0	.	GRCh37	1	233121464	233121464	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	10	0	ENST00000258229.9:c.6240+374G>A		p.*2080*	ENST00000258229	NM_014801.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44335.1	.	MUTECT|MUSE	.	GGTGTCCTTTC	NONE	.	.	.	.	.	ENSP00000258229	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODIFIER	33/33	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,3_prime_UTR_variant,,ENST00000344698,;PCNXL2,intron_variant,,ENST00000258229,;NTPCR,downstream_gene_variant,,ENST00000366628,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000496675,;PCNXL2,upstream_gene_variant,,ENST00000462762,;PCNXL2,intron_variant,,ENST00000462233,;	.	10	8	SUCCESS
WDR64	128025	.	GRCh37	1	241920625	241920625	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	66	88	0	ENST00000366552.2:c.1781T>C	p.Leu594Pro	p.L594P	ENST00000366552	NM_144625.4	594	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	1781	RADIA|MUTECT|MUSE	.	GGAGCTGCCTG	NONE	.	.	hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138	.	.	ENSP00000355510	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000366552	Transcript	.	.	ENSG00000162843	26570	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,missense_variant,p.Leu594Pro,ENST00000437684,;WDR64,missense_variant,p.Leu594Pro,ENST00000366552,;WDR64,missense_variant,p.Leu365Pro,ENST00000414635,;WDR64,missense_variant,p.Leu73Pro,ENST00000425826,;WDR64,missense_variant,p.Leu153Pro,ENST00000472717,;WDR64,3_prime_UTR_variant,,ENST00000468967,;	1988	88	101	SUCCESS
EXO1	9156	.	GRCh37	1	242030336	242030336	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1318996674	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	31	162	1	ENST00000348581.5:c.1246A>G	p.Ile416Val	p.I416V	ENST00000348581	NM_003686.4	416	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1620.1	1246	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCATTGTG	NONE	.	.	hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.98)	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Ile416Val,ENST00000348581,;EXO1,missense_variant,p.Ile416Val,ENST00000518483,;EXO1,missense_variant,p.Ile416Val,ENST00000366548,;	1839	163	189	SUCCESS
PLCH2	9651	.	GRCh37	1	2436408	2436408	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374511532	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	57	0	ENST00000378486.3:c.4007G>A	p.Arg1336Gln	p.R1336Q	ENST00000378486	NM_014638.2	1336	cGg/cAg	0	A:0	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGGCGCT	NONE	byFrequency|byCluster	.	.	.	A:0.0007	ENSP00000397289	.	22/22	.	.	.	.	.	.	.	.	rs374511532	22/22	common_in_exac	ENST00000449969	Transcript	.	.	ENSG00000149527	29037	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCH2_HUMAN	PLCH2	HGNC	.	.	UPI00006C0134	SNV	PLCH2,missense_variant,p.Arg1336Gln,ENST00000419816,;PLCH2,missense_variant,p.Arg1159Gln,ENST00000278878,;PLCH2,missense_variant,p.Arg1336Gln,ENST00000378486,;PLCH2,missense_variant,p.Arg1300Gln,ENST00000378488,;PLCH2,3_prime_UTR_variant,,ENST00000449969,;PLCH2,downstream_gene_variant,,ENST00000288766,;PANK4,downstream_gene_variant,,ENST00000435556,;PANK4,downstream_gene_variant,,ENST00000378466,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,non_coding_transcript_exon_variant,,ENST00000462379,;PLCH2,non_coding_transcript_exon_variant,,ENST00000473964,;PANK4,downstream_gene_variant,,ENST00000502512,;PANK4,downstream_gene_variant,,ENST00000505228,;	4893	57	50	SUCCESS
C1orf101	0	.	GRCh37	1	244653769	244653769	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149890053	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	327	58	269	0	ENST00000366534.4:c.347C>T	p.Thr116Ile	p.T116I	ENST00000366534	NM_001130957.1	116	aCc/aTc	0	A:0.0009	A:0.0008	.	A:0	.	T	T/I	protein_coding	YES	CCDS44340.1	347	RADIA|VARSCANS	.	CTTTACCCAGG	NONE	byCluster|by1000G	.	.	A:0	A:0	ENSP00000355492	A:0	6/22	.	.	.	.	.	.	.	.	rs149890053	6/22	PASS	ENST00000366534	Transcript	.	A:0.0002	ENSG00000179397	28491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.184)	A:0	tolerated(0.18)	.	CA101_HUMAN	C1orf101	HGNC	.	.	UPI00004701CD	SNV	C1orf101,missense_variant,p.Thr116Ile,ENST00000366533,;C1orf101,missense_variant,p.Thr116Ile,ENST00000366534,;C1orf101,intron_variant,,ENST00000428042,;C1orf101,intron_variant,,ENST00000366531,;C1orf101,non_coding_transcript_exon_variant,,ENST00000464170,;C1orf101,intron_variant,,ENST00000460986,;C1orf101,intron_variant,,ENST00000478554,;C1orf101,intron_variant,,ENST00000473875,;	401	269	385	SUCCESS
NLRP3	114548	.	GRCh37	1	247593020	247593020	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1366316812	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	52	90	0	ENST00000336119.3:c.2290A>G	p.Thr764Ala	p.T764A	ENST00000336119	NM_001127462.2	764	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1632.1	2290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAACGCTC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.18)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.Thr764Ala,ENST00000366496,;NLRP3,missense_variant,p.Thr764Ala,ENST00000336119,;NLRP3,missense_variant,p.Thr764Ala,ENST00000366497,;NLRP3,missense_variant,p.Thr764Ala,ENST00000391828,;NLRP3,intron_variant,,ENST00000391827,;NLRP3,intron_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000474792,;	3036	90	135	SUCCESS
PTPRU	10076	.	GRCh37	1	29602163	29602163	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	137	391	0	ENST00000345512.3:c.1348A>T	p.Ile450Phe	p.I450F	ENST00000345512	NM_005704.4	450	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS334.1	1348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCATCAAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF207,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334941	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000345512	Transcript	.	.	ENSG00000060656	9683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0)	.	PTPRU_HUMAN	PTPRU	HGNC	B3KT29_HUMAN	.	UPI000013C57E	SNV	PTPRU,missense_variant,p.Ile450Phe,ENST00000373779,;PTPRU,missense_variant,p.Ile450Phe,ENST00000428026,;PTPRU,missense_variant,p.Ile450Phe,ENST00000460170,;PTPRU,missense_variant,p.Ile450Phe,ENST00000323874,;PTPRU,missense_variant,p.Ile450Phe,ENST00000356870,;PTPRU,missense_variant,p.Ile450Phe,ENST00000345512,;PTPRU,non_coding_transcript_exon_variant,,ENST00000527027,;PTPRU,upstream_gene_variant,,ENST00000415600,;	1477	391	286	SUCCESS
PRDM16	63976	.	GRCh37	1	3329297	3329297	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752922142	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	32	79	0	ENST00000270722.5:c.2536C>T	p.Arg846Trp	p.R846W	ENST00000270722		846	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS41236.2	2536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGCGGATG	NONE	.	.	hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393	.	.	ENSP00000270722	.	9/17	.	.	.	.	.	.	.	.	rs752922142	9/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	deleterious(0)	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.Arg846Trp,ENST00000441472,;PRDM16,missense_variant,p.Arg847Trp,ENST00000514189,;PRDM16,missense_variant,p.Arg655Trp,ENST00000509860,;PRDM16,missense_variant,p.Arg846Trp,ENST00000270722,;PRDM16,missense_variant,p.Arg846Trp,ENST00000442529,;PRDM16,missense_variant,p.Arg847Trp,ENST00000511072,;PRDM16,missense_variant,p.Arg847Trp,ENST00000378398,;PRDM16,missense_variant,p.Arg846Trp,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	2585	79	60	SUCCESS
ARHGEF16	27237	.	GRCh37	1	3386092	3386092	+	synonymous_variant	Silent	SNP	C	C	T	rs150290426	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	59	0	ENST00000378378.4:c.957C>T	p.Thr319=	p.T319=	ENST00000378378	NM_014448.3	319	acC/acT	0	T:0.0098	T:0.0106	.	T:0	.	T	T	protein_coding	YES	CCDS46.2	957	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGACCGTGAC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF3,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	T:0	T:0.0001	ENSP00000367629	T:0	6/15	.	.	.	.	.	.	.	.	rs150290426	6/15	common_in_exac	ENST00000378378	Transcript	.	T:0.0028	ENSG00000130762	15515	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ARHGG_HUMAN	ARHGEF16	HGNC	B0QZD3_HUMAN	.	UPI00002039A3	SNV	ARHGEF16,synonymous_variant,p.%3D,ENST00000445297,;ARHGEF16,synonymous_variant,p.%3D,ENST00000378371,;ARHGEF16,synonymous_variant,p.%3D,ENST00000378378,;ARHGEF16,synonymous_variant,p.%3D,ENST00000378373,;ARHGEF16,upstream_gene_variant,,ENST00000413250,;ARHGEF16,upstream_gene_variant,,ENST00000418137,;ARHGEF16,upstream_gene_variant,,ENST00000464620,;ARHGEF16,upstream_gene_variant,,ENST00000485984,;	1362	59	50	SUCCESS
CSMD2	114784	.	GRCh37	1	34035031	34035031	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	95	0	ENST00000241312.4:c.8080A>T	p.Arg2694Trp	p.R2694W	ENST00000241312		2694	Agg/Tgg	0	.	.	.	.	.	A	R/W	nonsense_mediated_decay	YES	CCDS380.1	8080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCTGGAGC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	53/70	.	.	.	.	.	.	.	.	.	53/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Arg2692Trp,ENST00000373381,;CSMD2,non_coding_transcript_exon_variant,,ENST00000465819,;CSMD2,missense_variant,p.Arg2694Trp,ENST00000241312,;	8109	95	63	SUCCESS
OMA1	115209	.	GRCh37	1	58971782	58971782	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	88	0	ENST00000371226.3:c.1315C>T	p.His439Tyr	p.H439Y	ENST00000371226	NM_145243.3	439	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS608.1	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGTGTAG	NONE	.	.	hmmpanther:PTHR22726,hmmpanther:PTHR22726:SF1,Pfam_domain:PF01435	.	.	ENSP00000360270	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000371226	Transcript	.	.	ENSG00000162600	29661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OMA1_HUMAN	OMA1	HGNC	S4R3A3_HUMAN	.	UPI000006D0C6	SNV	OMA1,missense_variant,p.His439Tyr,ENST00000371226,;OMA1,missense_variant,p.His281Tyr,ENST00000421528,;OMA1,missense_variant,p.His439Tyr,ENST00000358603,;OMA1,non_coding_transcript_exon_variant,,ENST00000460671,;OMA1,non_coding_transcript_exon_variant,,ENST00000467509,;DAB1,non_coding_transcript_exon_variant,,ENST00000485760,;OMA1,intron_variant,,ENST00000476933,;	1429	88	75	SUCCESS
IL23R	149233	.	GRCh37	1	67648612	67648612	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	119	0	ENST00000347310.5:c.461T>A	p.Ile154Lys	p.I154K	ENST00000347310	NM_144701.2	154	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS637.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACATAGACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF88,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000321345	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000347310	Transcript	.	.	ENSG00000162594	19100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0)	.	IL23R_HUMAN	IL23R	HGNC	D9N2T9_HUMAN,B6HY80_HUMAN	.	UPI000004CACD	SNV	IL23R,missense_variant,p.Ile154Lys,ENST00000347310,;IL23R,missense_variant,p.Ile154Lys,ENST00000371002,;C1orf141,intron_variant,,ENST00000371007,;C1orf141,intron_variant,,ENST00000448166,;	632	119	106	SUCCESS
TNNI3K	51086	.	GRCh37	1	74834905	74834905	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1450728300	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	219	75	333	0	ENST00000326637.3:c.1429G>A	p.Val477Ile	p.V477I	ENST00000326637	NM_015978.2	477	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	.	1732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGTATAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000359928	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000370891	Transcript	.	.	ENSG00000116783	19661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.07)	.	TNI3K_HUMAN	TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI00005E2707	SNV	TNNI3K,start_lost,p.Val1?,ENST00000534020,;FPGT-TNNI3K,missense_variant,p.Val578Ile,ENST00000370895,;TNNI3K,missense_variant,p.Val24Ile,ENST00000526236,;TNNI3K,missense_variant,p.Val477Ile,ENST00000326637,;FPGT-TNNI3K,missense_variant,p.Val578Ile,ENST00000370899,;TNNI3K,missense_variant,p.Val578Ile,ENST00000370891,;FPGT-TNNI3K,missense_variant,p.Val591Ile,ENST00000557284,;FPGT-TNNI3K,downstream_gene_variant,,ENST00000534632,;TNNI3K,upstream_gene_variant,,ENST00000525480,;RP11-439H8.4,intron_variant,,ENST00000415549,;TNNI3K,non_coding_transcript_exon_variant,,ENST00000497284,;	1748	333	294	SUCCESS
SLC44A5	204962	.	GRCh37	1	75766311	75766311	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	70	1	ENST00000370855.5:c.161T>C	p.Val54Ala	p.V54A	ENST00000370855	NM_152697.4	54	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS667.1	161	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAACAATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385	.	.	ENSP00000359892	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.86)	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,missense_variant,p.Val54Ala,ENST00000370855,;SLC44A5,missense_variant,p.Val54Ala,ENST00000370859,;SLC44A5,5_prime_UTR_variant,,ENST00000535611,;SLC44A5,non_coding_transcript_exon_variant,,ENST00000469525,;	275	71	68	SUCCESS
ABCA4	24	.	GRCh37	1	94528206	94528206	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	71	0	ENST00000370225.3:c.1864A>C	p.Ser622Arg	p.S622R	ENST00000370225	NM_000350.2	622	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS747.1	1864	MUTECT|MUSE	.	CTGGCTCCTTG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257,Pfam_domain:PF12698	.	.	ENSP00000359245	.	13/50	.	.	.	.	.	.	.	.	.	13/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.821)	.	deleterious(0.01)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Ser622Arg,ENST00000370225,;ABCA4,missense_variant,p.Ser622Arg,ENST00000535735,;ABCA4,upstream_gene_variant,,ENST00000472033,;	1951	71	31	SUCCESS
BTBD3	22903	.	GRCh37	20	11899220	11899220	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	82	201	0	ENST00000378226.2:c.297G>A	p.Trp99Ter	p.W99*	ENST00000378226	NM_014962.2	99	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS13113.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGCAGGG	NONE	.	.	hmmpanther:PTHR24413:SF104,hmmpanther:PTHR24413,Gene3D:3.30.710.10,Superfamily_domains:SSF54695	.	.	ENSP00000384545	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000405977	Transcript	.	.	ENSG00000132640	15854	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBD3_HUMAN	BTBD3	HGNC	Q9NST6_HUMAN,Q52M42_HUMAN,B4DK27_HUMAN,B0QYR1_HUMAN,B0QYR0_HUMAN,B0QYQ9_HUMAN	.	UPI0000126B03	SNV	BTBD3,stop_gained,p.Trp38Ter,ENST00000254977,;BTBD3,stop_gained,p.Trp38Ter,ENST00000399006,;BTBD3,stop_gained,p.Trp99Ter,ENST00000405977,;BTBD3,stop_gained,p.Trp38Ter,ENST00000422390,;BTBD3,stop_gained,p.Trp99Ter,ENST00000378226,;BTBD3,upstream_gene_variant,,ENST00000430557,;BTBD3,downstream_gene_variant,,ENST00000450368,;BTBD3,upstream_gene_variant,,ENST00000455911,;RP4-742J24.2,non_coding_transcript_exon_variant,,ENST00000439529,;BTBD3,upstream_gene_variant,,ENST00000473180,;BTBD3,upstream_gene_variant,,ENST00000471120,;BTBD3,upstream_gene_variant,,ENST00000488503,;BTBD3,upstream_gene_variant,,ENST00000473416,;BTBD3,stop_gained,p.Trp38Ter,ENST00000449299,;	922	201	171	SUCCESS
E2F1	1869	.	GRCh37	20	32265105	32265105	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	107	0	ENST00000343380.5:c.872G>T	p.Gly291Val	p.G291V	ENST00000343380	NM_005225.2	291	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13224.1	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGCCTTGT	NONE	.	.	Superfamily_domains:SSF144074,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF21	.	.	ENSP00000345571	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000343380	Transcript	.	.	ENSG00000101412	3113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	E2F1_HUMAN	E2F1	HGNC	.	.	UPI000002EDEC	SNV	E2F1,missense_variant,p.Gly291Val,ENST00000343380,;NECAB3,upstream_gene_variant,,ENST00000439478,;NECAB3,upstream_gene_variant,,ENST00000606690,;NECAB3,upstream_gene_variant,,ENST00000246190,;NECAB3,upstream_gene_variant,,ENST00000375238,;RP1-63M2.5,downstream_gene_variant,,ENST00000606866,;NECAB3,upstream_gene_variant,,ENST00000606699,;NECAB3,upstream_gene_variant,,ENST00000493590,;NECAB3,upstream_gene_variant,,ENST00000485399,;NECAB3,upstream_gene_variant,,ENST00000484824,;NECAB3,upstream_gene_variant,,ENST00000607055,;NECAB3,upstream_gene_variant,,ENST00000607805,;NECAB3,upstream_gene_variant,,ENST00000488489,;	1012	107	96	SUCCESS
SOGA1	140710	.	GRCh37	20	35422173	35422173	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	25	0	ENST00000237536.4:c.4312A>G	p.Lys1438Glu	p.K1438E	ENST00000237536	NM_080627.2	1438	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS54459.1	4312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTTGGGGG	NONE	.	.	hmmpanther:PTHR15742:SF1,hmmpanther:PTHR15742	.	.	ENSP00000237536	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,missense_variant,p.Lys1438Glu,ENST00000237536,;SOGA1,missense_variant,p.Lys1200Glu,ENST00000357779,;SOGA1,missense_variant,p.Lys1041Glu,ENST00000456801,;SOGA1,intron_variant,,ENST00000279034,;SOGA1,missense_variant,p.Lys1052Glu,ENST00000465671,;	4654	25	20	SUCCESS
BMP7	655	.	GRCh37	20	55746127	55746127	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	116	0	ENST00000395863.3:c.1184G>T	p.Cys395Phe	p.C395F	ENST00000395863	NM_001719.2	395	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS13455.1	1184	RADIA|MUTECT|MUSE	.	CACAGCAGGGC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000379204	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000395863	Transcript	.	.	ENSG00000101144	1074	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BMP7_HUMAN	BMP7	HGNC	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN	.	UPI00000349AD	SNV	BMP7,missense_variant,p.Cys395Phe,ENST00000395863,;BMP7,missense_variant,p.Cys329Phe,ENST00000395864,;BMP7,downstream_gene_variant,,ENST00000450594,;BMP7,downstream_gene_variant,,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000476877,;	1690	116	91	SUCCESS
SYCP2	10388	.	GRCh37	20	58456074	58456074	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1217184091	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	224	65	371	0	ENST00000357552.3:c.2719G>A	p.Gly907Ser	p.G907S	ENST00000357552		907	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13482.1	2719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACCTACCC	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	30/45	.	.	.	.	.	.	.	.	.	30/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.458)	.	tolerated(0.1)	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,missense_variant,p.Gly907Ser,ENST00000446834,;SYCP2,missense_variant,p.Gly907Ser,ENST00000357552,;SYCP2,missense_variant,p.Gly907Ser,ENST00000371001,;SYCP2,non_coding_transcript_exon_variant,,ENST00000474749,;	2945	372	289	SUCCESS
DIP2A	23181	.	GRCh37	21	47966963	47966963	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	rs373435101	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	63	0	ENST00000417564.2:c.2522+8G>A		p.X841_splice	ENST00000417564		841		0	T:0	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS46655.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCGCTGCG	NONE	byCluster|by1000G	.	.	A:0	T:0.0002	ENSP00000392066	A:0	.	.	.	.	.	.	.	.	.	rs373435101	.	PASS	ENST00000417564	Transcript	.	A:0.0002	ENSG00000160305	17217	.	.	LOW	21/37	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	DIP2A_HUMAN	DIP2A	HGNC	Q9NSX6_HUMAN,Q96NX2_HUMAN	.	UPI00001B2E47	SNV	DIP2A,splice_region_variant,,ENST00000427143,;DIP2A,splice_region_variant,,ENST00000318711,;DIP2A,splice_region_variant,,ENST00000400274,;DIP2A,splice_region_variant,,ENST00000457905,;DIP2A,splice_region_variant,,ENST00000417564,;DIP2A,3_prime_UTR_variant,,ENST00000435722,;DIP2A,3_prime_UTR_variant,,ENST00000466639,;DIP2A,downstream_gene_variant,,ENST00000473752,;DIP2A,non_coding_transcript_exon_variant,,ENST00000480553,;DIP2A,downstream_gene_variant,,ENST00000494435,;	.	64	56	SUCCESS
GAB4	128954	.	GRCh37	22	17446135	17446135	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	49	114	0	ENST00000400588.1:c.1312A>C	p.Arg438=	p.R438=	ENST00000400588	NM_001037814.1	438	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS42976.1	1312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTCAGGT	NONE	.	.	hmmpanther:PTHR12156:SF20,hmmpanther:PTHR12156	.	.	ENSP00000383431	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000400588	Transcript	.	.	ENSG00000215568	18325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAB4_HUMAN	GAB4	HGNC	.	.	UPI00002326B5	SNV	GAB4,synonymous_variant,p.%3D,ENST00000400588,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,3_prime_UTR_variant,,ENST00000465611,;	1420	114	107	SUCCESS
BPIFC	254240	.	GRCh37	22	32833794	32833794	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	58	0	ENST00000300399.3:c.700A>T	p.Ile234Phe	p.I234F	ENST00000300399	NM_174932.2	234	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS13906.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGATTAGGG	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF17,Gene3D:1ewfA02,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000380594	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000397452	Transcript	.	.	ENSG00000184459	16503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	deleterious(0.02)	.	BPIFC_HUMAN	BPIFC	HGNC	F5H3G0_HUMAN	.	UPI0000071B53	SNV	BPIFC,missense_variant,p.Ile48Phe,ENST00000432451,;BPIFC,missense_variant,p.Ile234Phe,ENST00000397452,;BPIFC,missense_variant,p.Ile234Phe,ENST00000300399,;BPIFC,5_prime_UTR_variant,,ENST00000534972,;	811	58	54	SUCCESS
MPST	4357	.	GRCh37	22	37425290	37425290	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750907865	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	106	0	ENST00000341116.3:c.629A>G	p.Asn210Ser	p.N210S	ENST00000341116		210	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46703.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGAACATCC	NONE	byFrequency	.	Superfamily_domains:SSF52821,SMART_domains:SM00450,Gene3D:3.40.250.10,Pfam_domain:PF00581,hmmpanther:PTHR11364:SF6,hmmpanther:PTHR11364,PROSITE_profiles:PS50206	.	.	ENSP00000380318	.	3/3	.	.	.	.	.	.	.	.	rs750907865	3/3	PASS	ENST00000397129	Transcript	.	.	ENSG00000128309	7223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	tolerated(0.12)	.	.	MPST	HGNC	Q6FHN9_HUMAN,Q2VEU1_HUMAN,Q2VEU0_HUMAN,J3KPV7_HUMAN	.	UPI000057921F	SNV	MPST,missense_variant,p.Asn230Ser,ENST00000397129,;MPST,missense_variant,p.Asn210Ser,ENST00000404802,;MPST,missense_variant,p.Asn210Ser,ENST00000341116,;MPST,missense_variant,p.Asn210Ser,ENST00000401419,;MPST,missense_variant,p.Asn210Ser,ENST00000397225,;MPST,missense_variant,p.Asn210Ser,ENST00000429360,;MPST,3_prime_UTR_variant,,ENST00000404393,;MPST,non_coding_transcript_exon_variant,,ENST00000485587,;	865	106	120	SUCCESS
ENTHD1	150350	.	GRCh37	22	40140015	40140015	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1031933339	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	49	128	0	ENST00000325157.6:c.1493C>G	p.Ser498Cys	p.S498C	ENST00000325157	NM_152512.3	498	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS13998.1	1493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCAGAGTTA	NONE	.	.	hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51	.	.	ENSP00000317431	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000325157	Transcript	.	.	ENSG00000176177	26352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	ENTD1_HUMAN	ENTHD1	HGNC	.	.	UPI00000741D2	SNV	ENTHD1,missense_variant,p.Ser498Cys,ENST00000325157,;	1744	128	114	SUCCESS
SULT1C4	27233	.	GRCh37	2	108994661	108994661	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	20	0	ENST00000272452.2:c.-133C>T		p.*45*	ENST00000272452	NM_006588.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2077.1	.	MUTECT|MUSE	.	TGGCCCAGACA	NONE	.	.	.	.	.	ENSP00000272452	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000272452	Transcript	.	.	ENSG00000198075	11457	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ST1C4_HUMAN	SULT1C4	HGNC	.	.	UPI000013D958	SNV	SULT1C4,5_prime_UTR_variant,,ENST00000272452,;SULT1C4,5_prime_UTR_variant,,ENST00000409309,;SULT1C4,non_coding_transcript_exon_variant,,ENST00000494122,;	194	20	19	SUCCESS
TSN	7247	.	GRCh37	2	122522838	122522838	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	102	0	ENST00000389682.3:c.582C>T	p.Arg194=	p.R194=	ENST00000389682	NM_004622.2	194	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33284.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGCTACGA	NONE	.	.	hmmpanther:PTHR10741,hmmpanther:PTHR10741:SF2,Pfam_domain:PF01997,Gene3D:1j1jA02,Superfamily_domains:0047790	.	.	ENSP00000374332	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000389682	Transcript	.	.	ENSG00000211460	12379	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN_HUMAN	TSN	HGNC	.	.	UPI0000000C3D	SNV	TSN,synonymous_variant,p.%3D,ENST00000409193,;TSN,synonymous_variant,p.%3D,ENST00000389682,;TSN,3_prime_UTR_variant,,ENST00000536142,;TSN,downstream_gene_variant,,ENST00000455432,;TSN,non_coding_transcript_exon_variant,,ENST00000498545,;TSN,non_coding_transcript_exon_variant,,ENST00000495112,;TSN,non_coding_transcript_exon_variant,,ENST00000490104,;TSN,non_coding_transcript_exon_variant,,ENST00000467324,;TSN,downstream_gene_variant,,ENST00000478165,;TSN,downstream_gene_variant,,ENST00000490717,;	829	102	78	SUCCESS
METTL5	29081	.	GRCh37	2	170672031	170672031	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	95	0	ENST00000260953.5:c.497A>G	p.Gln166Arg	p.Q166R	ENST00000260953	NM_014168.2	166	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS33320.1	497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTGAACA	NONE	.	.	hmmpanther:PTHR23290,Gene3D:3.40.50.150	.	.	ENSP00000260953	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000260953	Transcript	.	.	ENSG00000138382	25006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.53)	.	METL5_HUMAN	METTL5	HGNC	B8ZZE3_HUMAN	.	UPI0000071529	SNV	METTL5,missense_variant,p.Gln166Arg,ENST00000260953,;METTL5,missense_variant,p.Gln166Arg,ENST00000409965,;METTL5,missense_variant,p.Gln77Arg,ENST00000442181,;METTL5,missense_variant,p.Gln166Arg,ENST00000392640,;METTL5,missense_variant,p.Gln67Arg,ENST00000409340,;METTL5,missense_variant,p.Gln166Arg,ENST00000410097,;METTL5,missense_variant,p.Gln166Arg,ENST00000409837,;METTL5,intron_variant,,ENST00000308099,;METTL5,intron_variant,,ENST00000538491,;SSB,downstream_gene_variant,,ENST00000260956,;SSB,downstream_gene_variant,,ENST00000409333,;U3,upstream_gene_variant,,ENST00000517172,;METTL5,3_prime_UTR_variant,,ENST00000537825,;SSB,downstream_gene_variant,,ENST00000494051,;METTL5,upstream_gene_variant,,ENST00000484351,;SSB,downstream_gene_variant,,ENST00000490914,;SSB,downstream_gene_variant,,ENST00000470621,;	814	95	64	SUCCESS
MYO3B	140469	.	GRCh37	2	171239700	171239700	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	83	0	ENST00000408978.4:c.1185+1G>A		p.X395_splice	ENST00000408978	NM_138995.4	395		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42773.1	.	MUTECT|MUSE|VARSCANS	.	CACAGGTAAGG	NONE	.	.	.	.	.	ENSP00000386213	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	HIGH	11/34	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,splice_donor_variant,,ENST00000484338,;MYO3B,splice_donor_variant,,ENST00000408978,;MYO3B,splice_donor_variant,,ENST00000334231,;MYO3B,splice_donor_variant,,ENST00000409044,;MYO3B,downstream_gene_variant,,ENST00000442690,;MYO3B,splice_donor_variant,,ENST00000602629,;MYO3B,splice_donor_variant,,ENST00000438642,;MYO3B,splice_donor_variant,,ENST00000317935,;MYO3B,splice_donor_variant,,ENST00000409940,;	.	83	73	SUCCESS
TTN	7273	.	GRCh37	2	179424990	179424990	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	50	151	0	ENST00000591111.1:c.80946T>C	p.Tyr26982=	p.Y26982=	ENST00000591111		26982	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS59435.1	85869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGATATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	86094	151	98	SUCCESS
TTN	7273	.	GRCh37	2	179489281	179489281	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	15	194	0	ENST00000591111.1:c.39803T>A	p.Leu13268His	p.L13268H	ENST00000591111		13268	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS59435.1	44726	MUTECT|MUSE|VARSCANS	.	TAACAAGTTTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	242/363	.	.	.	.	.	.	.	.	COSM4088569,COSM4088568,COSM4088565,COSM4088567,COSM4088566	242/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu5969His,ENST00000359218,;TTN,missense_variant,p.Leu6036His,ENST00000342175,;TTN,missense_variant,p.Leu12341His,ENST00000342992,;TTN,missense_variant,p.Leu13268His,ENST00000591111,;TTN,missense_variant,p.Leu14909His,ENST00000589042,;TTN,missense_variant,p.Leu5844His,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;	44951	194	156	SUCCESS
SF3B1	23451	.	GRCh37	2	198267481	198267481	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs769888451	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	12	97	0	ENST00000335508.6:c.1876A>C	p.Asn626His	p.N626H	ENST00000335508	NM_012433.2	626	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS33356.1	1876	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTTACGGA	BUFFER|p.N626Y|c.1876A>T|7,BUFFER|p.R625L|c.1874G>T|14,BUFFER|p.R625H|c.1874G>A|20,BUFFER|p.R625C|c.1873C>T|19,BUFFER|p.Y623C|c.1868A>G|4,BUFFER|p.E622D|c.1866G>T|20,BUFFER|p.E622D|c.1866G>C|12	.	.	hmmpanther:PTHR12097,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	14/25	.	.	.	.	.	.	.	.	rs769888451,COSM131555,COSM1291402,COSM145920	14/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	probably_damaging(0.993)	.	deleterious(0)	0,1,1,1	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Asn626His,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	1968	97	113	SUCCESS
UNC80	285175	.	GRCh37	2	210683912	210683912	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766431461	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	30	133	0	ENST00000439458.1:c.1889G>T	p.Ser630Ile	p.S630I	ENST00000439458	NM_032504.1	630	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS46504.1	1889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGCTACC	NONE	byFrequency	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	12/64	.	.	.	.	.	.	.	.	rs766431461	12/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Ser630Ile,ENST00000439458,;UNC80,missense_variant,p.Ser630Ile,ENST00000272845,;	1969	133	133	SUCCESS
CCDC108	0	.	GRCh37	2	219875570	219875570	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs564721573	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	38	134	0	ENST00000341552.5:c.4106G>A	p.Arg1369Gln	p.R1369Q	ENST00000341552	NM_194302.3	1369	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS2430.2	4106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGGGCA	NONE	by1000G	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	T:0	.	ENSP00000340776	T:0	25/35	.	.	.	.	.	.	.	.	rs564721573	25/35	PASS	ENST00000341552	Transcript	.	T:0.0002	ENSG00000181378	25325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	T:0.001	tolerated(0.63)	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,missense_variant,p.Arg1369Gln,ENST00000453220,;CCDC108,missense_variant,p.Arg1369Gln,ENST00000341552,;CCDC108,missense_variant,p.Arg1369Gln,ENST00000441968,;AC097468.4,intron_variant,,ENST00000441450,;	4190	134	77	SUCCESS
SCG2	7857	.	GRCh37	2	224462660	224462660	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	53	0	ENST00000305409.2:c.1341T>C	p.Asn447=	p.N447=	ENST00000305409	NM_003469.4	447	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS2457.1	1341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGATTTGC	NONE	.	.	hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0,Pfam_domain:PF01271	.	.	ENSP00000304133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305409	Transcript	.	.	ENSG00000171951	10575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCG2_HUMAN	SCG2	HGNC	C9JQI2_HUMAN,C9JDT0_HUMAN	.	UPI000013EA45	SNV	SCG2,synonymous_variant,p.%3D,ENST00000305409,;SCG2,downstream_gene_variant,,ENST00000433889,;SCG2,downstream_gene_variant,,ENST00000421386,;	1574	53	42	SUCCESS
ACP1	52	.	GRCh37	2	264960	264960	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	88	0	ENST00000272065.5:c.-5G>T		p.*2*	ENST00000272065	NM_004300.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1640.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGGGAAGA	NONE	.	.	.	.	.	ENSP00000272067	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000272067	Transcript	.	.	ENSG00000143727	122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAC_HUMAN	ACP1	HGNC	.	.	UPI0000000C82	SNV	ACP1,5_prime_UTR_variant,,ENST00000439645,;ACP1,5_prime_UTR_variant,,ENST00000272065,;ACP1,5_prime_UTR_variant,,ENST00000407983,;ACP1,5_prime_UTR_variant,,ENST00000405233,;ACP1,5_prime_UTR_variant,,ENST00000272067,;SH3YL1,upstream_gene_variant,,ENST00000415368,;SH3YL1,upstream_gene_variant,,ENST00000402632,;SH3YL1,upstream_gene_variant,,ENST00000403657,;SH3YL1,upstream_gene_variant,,ENST00000454318,;SH3YL1,upstream_gene_variant,,ENST00000405430,;SH3YL1,upstream_gene_variant,,ENST00000356150,;SH3YL1,upstream_gene_variant,,ENST00000403712,;SH3YL1,upstream_gene_variant,,ENST00000403658,;SH3YL1,intron_variant,,ENST00000462719,;ACP1,downstream_gene_variant,,ENST00000484125,;SH3YL1,upstream_gene_variant,,ENST00000477707,;SH3YL1,upstream_gene_variant,,ENST00000475027,;SH3YL1,upstream_gene_variant,,ENST00000473104,;SH3YL1,upstream_gene_variant,,ENST00000488979,;SH3YL1,upstream_gene_variant,,ENST00000472861,;SH3YL1,upstream_gene_variant,,ENST00000488044,;ACP1,upstream_gene_variant,,ENST00000484464,;SH3YL1,upstream_gene_variant,,ENST00000605370,;SH3YL1,upstream_gene_variant,,ENST00000468321,;SH3YL1,upstream_gene_variant,,ENST00000465733,;SH3YL1,upstream_gene_variant,,ENST00000463865,;ACP1,5_prime_UTR_variant,,ENST00000442386,;ACP1,5_prime_UTR_variant,,ENST00000405364,;ACP1,5_prime_UTR_variant,,ENST00000413140,;ACP1,non_coding_transcript_exon_variant,,ENST00000480874,;ACP1,upstream_gene_variant,,ENST00000453390,;SH3YL1,upstream_gene_variant,,ENST00000471948,;SH3YL1,upstream_gene_variant,,ENST00000479739,;	92	88	54	SUCCESS
ATP6V1E2	90423	.	GRCh37	2	46739542	46739542	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	70	0	ENST00000306448.4:c.309C>A	p.Ser103Arg	p.S103R	ENST00000306448	NM_080653.3	103	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS1826.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTGCTGAG	NONE	.	.	HAMAP:MF_00311,hmmpanther:PTHR11583,hmmpanther:PTHR11583:SF4,Pfam_domain:PF01991,Superfamily_domains:0053834	.	.	ENSP00000304891	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306448	Transcript	.	.	ENSG00000250565	18125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.39)	.	VATE2_HUMAN	ATP6V1E2	HGNC	.	.	UPI0000073C6E	SNV	ATP6V1E2,missense_variant,p.Ser103Arg,ENST00000306448,;ATP6V1E2,missense_variant,p.Ser103Arg,ENST00000522587,;ATP6V1E2,intron_variant,,ENST00000524249,;	1423	71	52	SUCCESS
KIAA1841	84542	.	GRCh37	2	61315627	61315627	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	167	395	0	ENST00000402291.1:c.1088+24C>G		p.*363*	ENST00000402291	NM_001129993.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46296.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACATGTA	NONE	.	.	.	.	.	ENSP00000385579	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	MODIFIER	10/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,intron_variant,,ENST00000453873,;KIAA1841,intron_variant,,ENST00000402291,;KIAA1841,intron_variant,,ENST00000356719,;KIAA1841,intron_variant,,ENST00000295031,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000482513,;KIAA1841,upstream_gene_variant,,ENST00000483509,;KIAA1841,intron_variant,,ENST00000453186,;	.	395	353	SUCCESS
REG1A	5967	.	GRCh37	2	79349980	79349980	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	123	0	ENST00000233735.1:c.335A>G	p.His112Arg	p.H112R	ENST00000233735	NM_002909.4	112	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS1964.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCACTGGA	BUFFER|p.R109H|c.326G>A|4,BUFFER|p.R110H|c.329G>A|4	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF25,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504	.	.	ENSP00000233735	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000233735	Transcript	.	.	ENSG00000115386	9951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.681)	.	tolerated(0.2)	.	REG1A_HUMAN	REG1A	HGNC	Q2TBE1_HUMAN	.	UPI000012E72D	SNV	REG1A,missense_variant,p.His112Arg,ENST00000233735,;REG1A,non_coding_transcript_exon_variant,,ENST00000485184,;REG1A,downstream_gene_variant,,ENST00000488524,;REG1A,downstream_gene_variant,,ENST00000461579,;	438	123	91	SUCCESS
SFTPB	6439	.	GRCh37	2	85888601	85888601	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	40	0	ENST00000393822.3:c.1177C>T	p.Leu393Phe	p.L393F	ENST00000393822		393	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1983.2	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGGTCGG	NONE	.	.	.	.	.	ENSP00000377409	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000393822	Transcript	.	.	ENSG00000168878	10801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(1)	.	.	SFTPB	HGNC	D6W5L6_HUMAN	.	UPI0000421A06	SNV	SFTPB,missense_variant,p.Leu381Phe,ENST00000342375,;SFTPB,missense_variant,p.Leu381Phe,ENST00000519937,;SFTPB,missense_variant,p.Leu393Phe,ENST00000409383,;SFTPB,missense_variant,p.Leu393Phe,ENST00000393822,;SFTPB,missense_variant,p.Leu92Phe,ENST00000494165,;SFTPB,missense_variant,p.Leu374Phe,ENST00000428225,;SFTPB,downstream_gene_variant,,ENST00000491167,;	1277	40	36	SUCCESS
SFTPB	6439	.	GRCh37	2	85888602	85888602	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1350677115	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	39	0	ENST00000393822.3:c.1176C>A	p.Asp392Glu	p.D392E	ENST00000393822		392	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS1983.2	1176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGTCGGG	NONE	.	.	.	.	.	ENSP00000377409	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000393822	Transcript	.	.	ENSG00000168878	10801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.52)	.	.	SFTPB	HGNC	D6W5L6_HUMAN	.	UPI0000421A06	SNV	SFTPB,missense_variant,p.Asp380Glu,ENST00000342375,;SFTPB,missense_variant,p.Asp380Glu,ENST00000519937,;SFTPB,missense_variant,p.Asp392Glu,ENST00000409383,;SFTPB,missense_variant,p.Asp392Glu,ENST00000393822,;SFTPB,missense_variant,p.Asp91Glu,ENST00000494165,;SFTPB,missense_variant,p.Asp373Glu,ENST00000428225,;SFTPB,downstream_gene_variant,,ENST00000491167,;	1276	39	36	SUCCESS
ZAP70	7535	.	GRCh37	2	98349640	98349640	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	60	153	0	ENST00000264972.5:c.755A>T	p.Glu252Val	p.E252V	ENST00000264972	NM_001079.3	252	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33254.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAGGCCT	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF80,hmmpanther:PTHR24418,Gene3D:3.30.505.10,PIRSF_domain:PIRSF000604,Superfamily_domains:SSF55550	.	.	ENSP00000264972	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000264972	Transcript	.	.	ENSG00000115085	12858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.225)	.	tolerated(0.24)	.	ZAP70_HUMAN	ZAP70	HGNC	B4E0E2_HUMAN	.	UPI000013C370	SNV	ZAP70,missense_variant,p.Glu126Val,ENST00000442208,;ZAP70,missense_variant,p.Glu252Val,ENST00000264972,;ZAP70,upstream_gene_variant,,ENST00000451498,;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,non_coding_transcript_exon_variant,,ENST00000498836,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000495754,;ZAP70,upstream_gene_variant,,ENST00000489250,;	970	153	123	SUCCESS
COL6A6	131873	.	GRCh37	3	130285878	130285878	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	60	151	2	ENST00000358511.6:c.1615T>C	p.Cys539Arg	p.C539R	ENST00000358511	NM_001102608.1	539	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS46911.1	1615	RADIA|SOMATICSNIPER|VARSCANS	.	TTCCATGCCAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	tolerated(0.16)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Cys539Arg,ENST00000453409,;COL6A6,missense_variant,p.Cys539Arg,ENST00000358511,;	1646	153	126	SUCCESS
GNB4	59345	.	GRCh37	3	179131380	179131380	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	34	156	0	ENST00000232564.3:c.519T>G	p.Thr173=	p.T173=	ENST00000232564	NM_021629.3	173	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3230.1	519	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCAGTTTC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850:SF28,hmmpanther:PTHR19850,Gene3D:2.130.10.10,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000232564	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000232564	Transcript	.	.	ENSG00000114450	20731	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBB4_HUMAN	GNB4	HGNC	C9JD14_HUMAN,B4DLV5_HUMAN	.	UPI000012B21A	SNV	GNB4,synonymous_variant,p.%3D,ENST00000232564,;GNB4,synonymous_variant,p.%3D,ENST00000466899,;GNB4,synonymous_variant,p.%3D,ENST00000468623,;GNB4,downstream_gene_variant,,ENST00000497513,;GNB4,non_coding_transcript_exon_variant,,ENST00000465153,;	806	156	225	SUCCESS
MASP1	5648	.	GRCh37	3	186978538	186978538	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760451710	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	35	108	0	ENST00000337774.5:c.538A>G	p.Thr180Ala	p.T180A	ENST00000337774	NM_001879.5	180	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33908.1	538	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGTCCTGT	NONE	byFrequency	.	hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF001155,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000296280	.	4/11	.	.	.	.	.	.	.	.	rs760451710,COSM3846986,COSM3846987,COSM3846985	4/11	PASS	ENST00000296280	Transcript	.	.	ENSG00000127241	6901	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	probably_damaging(0.963)	.	deleterious(0)	0,1,1,1	MASP1_HUMAN	MASP1	HGNC	Q9NSY8_HUMAN,C9JLU5_HUMAN	.	UPI000007256E	SNV	MASP1,missense_variant,p.Thr187Ala,ENST00000392475,;MASP1,missense_variant,p.Thr154Ala,ENST00000392470,;MASP1,missense_variant,p.Thr180Ala,ENST00000169293,;MASP1,missense_variant,p.Thr180Ala,ENST00000296280,;MASP1,missense_variant,p.Thr180Ala,ENST00000337774,;MASP1,missense_variant,p.Thr67Ala,ENST00000392472,;MASP1,downstream_gene_variant,,ENST00000425937,;MASP1,downstream_gene_variant,,ENST00000439271,;MASP1,non_coding_transcript_exon_variant,,ENST00000490558,;MASP1,intron_variant,,ENST00000495249,;MASP1,downstream_gene_variant,,ENST00000465015,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;	764	108	124	SUCCESS
KCNH8	131096	.	GRCh37	3	19384192	19384192	+	synonymous_variant	Silent	SNP	T	T	C	rs150723210	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	35	169	0	ENST00000328405.2:c.556T>C	p.Leu186=	p.L186=	ENST00000328405	NM_144633.2	186	Ttg/Ctg	0	C:0.0002	.	.	.	.	C	L	protein_coding	YES	CCDS2632.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATTGAAA	NONE	byCluster	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	C:0	ENSP00000328813	.	4/16	.	.	.	.	.	.	.	.	rs150723210	4/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,synonymous_variant,p.%3D,ENST00000328405,;KCNH8,synonymous_variant,p.%3D,ENST00000452398,;	822	169	135	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913409	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	56	128	0	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45F|c.134C>T|518,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45Y|c.134C>A|27,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.954)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	128	115	SUCCESS
KIF15	56992	.	GRCh37	3	44841897	44841897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	213	75	353	0	ENST00000326047.4:c.1190G>T	p.Gly397Val	p.G397V	ENST00000326047	NM_020242.2	397	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33744.1	1190	RADIA|MUTECT|MUSE	.	TTCAGGACAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115	.	.	ENSP00000324020	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000326047	Transcript	.	.	ENSG00000163808	17273	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	tolerated(0.1)	.	KIF15_HUMAN	KIF15	HGNC	D6RCT7_HUMAN	.	UPI000006DB0E	SNV	KIF15,missense_variant,p.Gly169Val,ENST00000481166,;KIF15,missense_variant,p.Gly32Val,ENST00000425755,;KIF15,missense_variant,p.Gly397Val,ENST00000326047,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,non_coding_transcript_exon_variant,,ENST00000493134,;	1339	353	289	SUCCESS
SEMA3F	6405	.	GRCh37	3	50225206	50225206	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	36	72	0	ENST00000002829.3:c.2016T>C	p.Asp672=	p.D672=	ENST00000002829	NM_004186.3	672	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS2811.1	2016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGATCGTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036:SF27,hmmpanther:PTHR11036,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000002829	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000002829	Transcript	.	.	ENSG00000001617	10728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3F_HUMAN	SEMA3F	HGNC	.	.	UPI0000135A69	SNV	SEMA3F,synonymous_variant,p.%3D,ENST00000413852,;SEMA3F,synonymous_variant,p.%3D,ENST00000002829,;SEMA3F,synonymous_variant,p.%3D,ENST00000434342,;GNAT1,upstream_gene_variant,,ENST00000433068,;GNAT1,upstream_gene_variant,,ENST00000440836,;SEMA3F,downstream_gene_variant,,ENST00000450338,;GNAT1,upstream_gene_variant,,ENST00000232461,;SEMA3F,downstream_gene_variant,,ENST00000470737,;GNAT1,upstream_gene_variant,,ENST00000467787,;SEMA3F,downstream_gene_variant,,ENST00000493743,;	2500	72	67	SUCCESS
GRM2	2912	.	GRCh37	3	51749599	51749599	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	40	0	ENST00000395052.3:c.1810G>T	p.Glu604Ter	p.E604*	ENST00000395052	NM_000839.3	604	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS2834.1	1810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGGAGCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000378492	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000395052	Transcript	.	.	ENSG00000164082	4594	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM2_HUMAN	GRM2	HGNC	C9JD41_HUMAN	.	UPI000013E346	SNV	GRM2,stop_gained,p.Glu604Ter,ENST00000395052,;GRM2,intron_variant,,ENST00000442933,;GRM2,non_coding_transcript_exon_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000496661,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,3_prime_UTR_variant,,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	2044	40	47	SUCCESS
OR5H2	79310	.	GRCh37	3	98001887	98001887	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	119	0	ENST00000355273.2:c.156T>C	p.Ala52=	p.A52=	ENST00000355273	NM_001005482.1	52	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS33801.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTCTTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF277,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000347418	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355273	Transcript	.	.	ENSG00000197938	14752	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5H2_HUMAN	OR5H2	HGNC	.	.	UPI0000041B67	SNV	OR5H2,synonymous_variant,p.%3D,ENST00000355273,;RP11-325B23.2,intron_variant,,ENST00000508616,;	156	119	98	SUCCESS
OR5K4	403278	.	GRCh37	3	98072899	98072899	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	101	0	ENST00000354924.2:c.202C>T	p.Leu68=	p.L68=	ENST00000354924	NM_001005517.1	68	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33802.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCTGATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000347003	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354924	Transcript	.	.	ENSG00000196098	31291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5K4_HUMAN	OR5K4	HGNC	.	.	UPI000044D411	SNV	OR5K4,synonymous_variant,p.%3D,ENST00000354924,;RP11-325B23.2,intron_variant,,ENST00000508616,;	202	101	58	SUCCESS
BOD1L1	259282	.	GRCh37	4	13578590	13578590	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	38	68	0	ENST00000040738.5:c.8910C>T	p.Arg2970=	p.R2970=	ENST00000040738	NM_148894.2	2970	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS3411.2	8910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGCGTTT	NONE	.	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,synonymous_variant,p.%3D,ENST00000507943,;BOD1L1,synonymous_variant,p.%3D,ENST00000040738,;BOD1L1,non_coding_transcript_exon_variant,,ENST00000505343,;BOD1L1,downstream_gene_variant,,ENST00000509897,;	9046	68	72	SUCCESS
KIAA0922	0	.	GRCh37	4	154519794	154519794	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	59	134	0	ENST00000409959.3:c.2176G>A	p.Glu726Lys	p.E726K	ENST00000409959	NM_001131007.1	726	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47148.1	2176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGAGTTA	NONE	.	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF2	.	.	ENSP00000386787	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000409959	Transcript	.	.	ENSG00000121210	29146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	T131L_HUMAN	KIAA0922	HGNC	D3DP10_HUMAN	.	UPI00017BE9AB	SNV	KIAA0922,missense_variant,p.Glu725Lys,ENST00000409663,;KIAA0922,missense_variant,p.Glu642Lys,ENST00000440693,;KIAA0922,missense_variant,p.Glu726Lys,ENST00000409959,;KIAA0922,missense_variant,p.Glu503Lys,ENST00000240487,;KIAA0922,upstream_gene_variant,,ENST00000497247,;	2225	134	117	SUCCESS
ALB	213	.	GRCh37	4	74279213	74279215	+	inframe_deletion	In_Frame_Del	DEL	TGT	TGT	-	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	TGT	TGT	.	.	.	.	.	.	.	.	.	.	.	.	.	93	32	153	0	ENST00000295897.4:c.922_924del	p.Leu308del	p.L308del	ENST00000295897	NM_000477.5	307	cTGTtg/ctg	0	.	.	.	.	.	-	LL/L	protein_coding	YES	CCDS3555.1	920-922	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCTCTGTTGGAA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,inframe_deletion,p.Leu308del,ENST00000509063,;ALB,inframe_deletion,p.Leu153del,ENST00000511370,;ALB,inframe_deletion,p.Leu116del,ENST00000415165,;ALB,inframe_deletion,p.Leu308del,ENST00000295897,;ALB,inframe_deletion,p.Leu158del,ENST00000503124,;ALB,inframe_deletion,p.Leu193del,ENST00000401494,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	1009-1011	153	125	SUCCESS
MAN2A1	4124	.	GRCh37	5	109091047	109091047	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	102	1	ENST00000261483.4:c.725A>G	p.Gln242Arg	p.Q242R	ENST00000261483	NM_002372.2	242	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS34209.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCAGCTTG	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:3.20.110.10,Pfam_domain:PF01074,Superfamily_domains:SSF88713	.	.	ENSP00000261483	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Gln242Arg,ENST00000261483,;	1777	103	121	SUCCESS
SRFBP1	153443	.	GRCh37	5	121356042	121356042	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	80	171	0	ENST00000339397.4:c.612A>T	p.Pro204=	p.P204=	ENST00000339397	NM_152546.2	204	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43354.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCATCAAA	NONE	.	.	hmmpanther:PTHR23325	.	.	ENSP00000341324	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000339397	Transcript	.	.	ENSG00000151304	26333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRFB1_HUMAN	SRFBP1	HGNC	.	.	UPI000006DEC3	SNV	SRFBP1,synonymous_variant,p.%3D,ENST00000339397,;SRFBP1,upstream_gene_variant,,ENST00000504881,;	684	171	182	SUCCESS
PRDM6	93166	.	GRCh37	5	122435525	122435525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	73	179	0	ENST00000407847.4:c.769G>A	p.Gly257Ser	p.G257S	ENST00000407847	NM_001136239.1	257	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS47259.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGGCCTG	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR11389:SF421,hmmpanther:PTHR11389,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000384725	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000407847	Transcript	.	.	ENSG00000061455	9350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	PRDM6_HUMAN	PRDM6	HGNC	.	.	UPI0001610E83	SNV	PRDM6,missense_variant,p.Gly257Ser,ENST00000407847,;PRDM6,non_coding_transcript_exon_variant,,ENST00000464424,;PRDM6,missense_variant,p.Gly30Ser,ENST00000434521,;	1183	179	161	SUCCESS
FBN2	2201	.	GRCh37	5	127666336	127666336	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	60	117	0	ENST00000262464.4:c.4274G>T	p.Cys1425Phe	p.C1425F	ENST00000262464	NM_001999.3	1425	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34222.1	4274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACACACTGA	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	39/71	.	.	.	.	.	.	.	.	CM090536,CM093743	39/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Cys1425Phe,ENST00000262464,;FBN2,missense_variant,p.Cys1425Phe,ENST00000508053,;FBN2,missense_variant,p.Cys275Phe,ENST00000507835,;FBN2,missense_variant,p.Cys1392Phe,ENST00000508989,;	5249	117	134	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140735666	140735666	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769953317	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	7	94	1	ENST00000571252.1:c.899A>G	p.Asp300Gly	p.D300G	ENST00000571252	NM_018917.2	300	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS58979.1	899	MUTECT|MUSE	.	TGGGGATATAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	rs769953317,COSM1594986,COSM1594987	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	possibly_damaging(0.845)	.	deleterious_low_confidence(0)	0,1,1	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	SNV	PCDHGA4,missense_variant,p.Asp300Gly,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	899	95	98	SUCCESS
MAPK9	5601	.	GRCh37	5	179666988	179666988	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	32	0	ENST00000452135.2:c.997-1G>A		p.X333_splice	ENST00000452135		333		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4453.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCTAAAA	NONE	.	.	.	.	.	ENSP00000394560	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000452135	Transcript	.	.	ENSG00000050748	6886	.	.	HIGH	9/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MK09_HUMAN	MAPK9	HGNC	E5RJ57_HUMAN	.	UPI000006E3AD	SNV	MAPK9,splice_acceptor_variant,,ENST00000347470,;MAPK9,splice_acceptor_variant,,ENST00000393360,;MAPK9,splice_acceptor_variant,,ENST00000343111,;MAPK9,splice_acceptor_variant,,ENST00000455781,;MAPK9,splice_acceptor_variant,,ENST00000452135,;MAPK9,splice_acceptor_variant,,ENST00000397072,;MAPK9,downstream_gene_variant,,ENST00000524170,;MAPK9,splice_acceptor_variant,,ENST00000520212,;MAPK9,downstream_gene_variant,,ENST00000393362,;	.	32	27	SUCCESS
RGS7BP	401190	.	GRCh37	5	63802553	63802553	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	109	287	0	ENST00000334025.2:c.102G>A	p.Glu34=	p.E34=	ENST00000334025	NM_001029875.2	34	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS34170.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGAGCGCAG	NONE	.	.	hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF11	.	.	ENSP00000334851	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000334025	Transcript	.	.	ENSG00000186479	23271	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R7BP_HUMAN	RGS7BP	HGNC	.	.	UPI00001D7F8B	SNV	RGS7BP,synonymous_variant,p.%3D,ENST00000334025,;RGS7BP,non_coding_transcript_exon_variant,,ENST00000508162,;	428	287	261	SUCCESS
DTNBP1	84062	.	GRCh37	6	15663083	15663083	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	32	80	0	ENST00000344537.5:c.18C>T	p.Arg6=	p.R6=	ENST00000344537	NM_001271667.1	6	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4534.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGCGAAG	NONE	.	.	hmmpanther:PTHR16294,hmmpanther:PTHR16294:SF5	.	.	ENSP00000341680	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000344537	Transcript	.	.	ENSG00000047579	17328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTBP1_HUMAN	DTNBP1	HGNC	D6RAR7_HUMAN	.	UPI000006F968	SNV	DTNBP1,synonymous_variant,p.%3D,ENST00000511762,;DTNBP1,synonymous_variant,p.%3D,ENST00000338950,;DTNBP1,synonymous_variant,p.%3D,ENST00000344537,;DTNBP1,synonymous_variant,p.%3D,ENST00000355917,;DTNBP1,synonymous_variant,p.%3D,ENST00000506844,;DTNBP1,synonymous_variant,p.%3D,ENST00000515875,;DTNBP1,synonymous_variant,p.%3D,ENST00000513680,;DTNBP1,synonymous_variant,p.%3D,ENST00000510395,;	191	80	122	SUCCESS
ARID1B	57492	.	GRCh37	6	157528824	157528824	+	synonymous_variant	Silent	SNP	G	G	A	rs866784097	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	102	1	ENST00000346085.5:c.6549G>A	p.Gln2183=	p.Q2183=	ENST00000346085	NM_020732.3	2183	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS55072.1	6549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGCCCCC	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:1.25.10.10,Pfam_domain:PF12031	.	.	ENSP00000344546	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000414678,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;	6550	103	106	SUCCESS
FRMD1	79981	.	GRCh37	6	168462619	168462619	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	53	121	0	ENST00000283309.6:c.913C>A	p.Gln305Lys	p.Q305K	ENST00000283309	NM_024919.3	305	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5306.1	913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGTGCTG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR13429,hmmpanther:PTHR13429:SF4,Superfamily_domains:SSF50729	.	.	ENSP00000283309	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000283309	Transcript	.	.	ENSG00000153303	21240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.03)	.	FRMD1_HUMAN	FRMD1	HGNC	F5GXR0_HUMAN	.	UPI000013F36A	SNV	FRMD1,missense_variant,p.Gln76Lys,ENST00000537786,;FRMD1,missense_variant,p.Gln237Lys,ENST00000440994,;FRMD1,missense_variant,p.Gln305Lys,ENST00000283309,;FRMD1,downstream_gene_variant,,ENST00000511714,;FRMD1,non_coding_transcript_exon_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,non_coding_transcript_exon_variant,,ENST00000336070,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,;FRMD1,downstream_gene_variant,,ENST00000506415,;	978	121	141	SUCCESS
FAM65B	0	.	GRCh37	6	24874014	24874014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	69	84	0	ENST00000259698.4:c.115A>T	p.Ile39Phe	p.I39F	ENST00000259698	NM_014722.2	39	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS47383.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATGAAGG	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2	.	.	ENSP00000259698	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000259698	Transcript	.	.	ENSG00000111913	13872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0.01)	.	FA65B_HUMAN	FAM65B	HGNC	H3BP45_HUMAN	.	UPI0000EE554D	SNV	FAM65B,missense_variant,p.Ile68Phe,ENST00000538035,;FAM65B,missense_variant,p.Ile39Phe,ENST00000378023,;FAM65B,missense_variant,p.Ile39Phe,ENST00000540914,;FAM65B,missense_variant,p.Ile39Phe,ENST00000259698,;FAM65B,missense_variant,p.Ile73Phe,ENST00000510784,;	291	84	118	SUCCESS
BTN3A1	11119	.	GRCh37	6	26412786	26412786	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	94	229	0	ENST00000289361.6:c.1019-611A>G		p.*340*	ENST00000289361	NM_001145009.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4608.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATAAGGCA	NONE	.	.	.	.	.	ENSP00000289361	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000289361	Transcript	.	.	ENSG00000026950	1138	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A1_HUMAN	BTN3A1	HGNC	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN	.	UPI000013C904	SNV	BTN3A1,3_prime_UTR_variant,,ENST00000425234,;BTN3A1,intron_variant,,ENST00000414912,;BTN3A1,intron_variant,,ENST00000289361,;BTN3A1,intron_variant,,ENST00000476549,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000502361,;BTN3A1,intron_variant,,ENST00000513047,;BTN3A1,intron_variant,,ENST00000082468,;	.	229	338	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47253741	47253741	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	39	104	0	ENST00000296861.2:c.687C>T	p.Ile229=	p.I229=	ENST00000296861	NM_014452.4	229	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS4921.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGATGGC	NONE	.	.	hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097	.	.	ENSP00000296861	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,synonymous_variant,p.%3D,ENST00000296861,;	1081	104	147	SUCCESS
FBXO9	26268	.	GRCh37	6	52935834	52935834	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	82	115	0	ENST00000244426.6:c.13A>G	p.Ile5Val	p.I5V	ENST00000244426	NM_012347.4	5	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55023.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTATTTGG	NONE	.	.	.	.	.	ENSP00000244426	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000244426	Transcript	.	.	ENSG00000112146	13588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	FBX9_HUMAN	FBXO9	HGNC	C9JDZ9_HUMAN,C9J4V1_HUMAN,C9IY65_HUMAN	.	UPI000012A589	SNV	FBXO9,missense_variant,p.Ile5Val,ENST00000244426,;FBXO9,intron_variant,,ENST00000370939,;FBXO9,intron_variant,,ENST00000459845,;FBXO9,intron_variant,,ENST00000498744,;FBXO9,intron_variant,,ENST00000473337,;FBXO9,intron_variant,,ENST00000323557,;FBXO9,downstream_gene_variant,,ENST00000461222,;FBXO9,non_coding_transcript_exon_variant,,ENST00000468481,;FBXO9,upstream_gene_variant,,ENST00000480463,;	185	116	144	SUCCESS
ELOVL5	60481	.	GRCh37	6	53159142	53159142	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	62	179	0	ENST00000304434.6:c.58+1298C>T		p.*20*	ENST00000304434				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56433.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGAGCTC	NONE	.	.	.	.	.	ENSP00000438095	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000541407	Transcript	.	.	ENSG00000012660	21308	.	.	MODIFIER	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOV5_HUMAN	ELOVL5	HGNC	.	.	UPI0001AE72A0	SNV	ELOVL5,missense_variant,p.Ser69Phe,ENST00000370913,;ELOVL5,intron_variant,,ENST00000541407,;ELOVL5,intron_variant,,ENST00000370918,;ELOVL5,intron_variant,,ENST00000304434,;ELOVL5,intron_variant,,ENST00000542638,;ELOVL5,intron_variant,,ENST00000485336,;ELOVL5,intron_variant,,ENST00000486973,;ELOVL5,intron_variant,,ENST00000465983,;	.	179	240	SUCCESS
DST	667	.	GRCh37	6	56484410	56484410	+	intron_variant	Intron	SNP	T	T	G	rs772559320	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	71	0	ENST00000244364.6:c.3318+4918A>C		p.*1106*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATTCTAA	NONE	byFrequency	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	rs772559320	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	22/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Glu1474Asp,ENST00000370765,;DST,intron_variant,,ENST00000522360,;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000518935,;	.	71	105	SUCCESS
LGSN	51557	.	GRCh37	6	63995538	63995538	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	42	113	0	ENST00000370657.4:c.284T>G	p.Leu95Arg	p.L95R	ENST00000370657		95	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS4964.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGAGGTCT	NONE	.	.	Superfamily_domains:SSF54368,Pfam_domain:PF03951,Gene3D:2bvcA01,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	SNV	LGSN,missense_variant,p.Leu95Arg,ENST00000485906,;LGSN,missense_variant,p.Leu95Arg,ENST00000370658,;LGSN,missense_variant,p.Leu95Arg,ENST00000370657,;	318	113	135	SUCCESS
LCA5	167691	.	GRCh37	6	80223048	80223048	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	127	0	ENST00000369846.4:c.601T>C	p.Phe201Leu	p.F201L	ENST00000369846	NM_001122769.2	201	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS4990.1	601	RADIA|MUTECT|MUSE	.	GGAAAATTTTG	NONE	.	.	hmmpanther:PTHR16650:SF8,hmmpanther:PTHR16650,Pfam_domain:PF15619	.	.	ENSP00000376686	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.65)	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,missense_variant,p.Phe201Leu,ENST00000369846,;LCA5,missense_variant,p.Phe201Leu,ENST00000467898,;LCA5,missense_variant,p.Phe201Leu,ENST00000392959,;	1213	127	115	SUCCESS
GIGYF1	64599	.	GRCh37	7	100284298	100284298	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	51	0	ENST00000275732.5:c.668del	p.Gly223AlafsTer122	p.G223Afs*122	ENST00000275732	NM_022574.4	223	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS34708.1	668	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGTCGCCGTCT	NONE	.	.	hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37	.	.	ENSP00000275732	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000275732	Transcript	.	.	ENSG00000146830	9126	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PERQ1_HUMAN	GIGYF1	HGNC	.	.	UPI00001BD8AD	deletion	GIGYF1,frameshift_variant,p.Gly223AlafsTer122,ENST00000275732,;GIGYF1,intron_variant,,ENST00000471340,;GIGYF1,non_coding_transcript_exon_variant,,ENST00000464111,;GIGYF1,upstream_gene_variant,,ENST00000472105,;	1878	51	85	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138794071	138794071	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	63	0	ENST00000242351.5:c.7G>T	p.Asp3Tyr	p.D3Y	ENST00000242351	NM_020119.3	3	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5851.1	7	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTCCGCCA	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,missense_variant,p.Asp3Tyr,ENST00000471652,;ZC3HAV1,missense_variant,p.Asp3Tyr,ENST00000464606,;ZC3HAV1,missense_variant,p.Asp3Tyr,ENST00000242351,;	324	63	62	SUCCESS
FASTK	10922	.	GRCh37	7	150776949	150776949	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756789798	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	19	197	0	ENST00000297532.6:c.143G>A	p.Arg48Gln	p.R48Q	ENST00000297532	NM_006712.4	48	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS5918.1	143	MUTECT|MUSE|VARSCANS	.	ACAGCCGAGCA	NONE	byFrequency	.	hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF4	.	.	ENSP00000297532	.	2/10	.	.	.	.	.	.	.	.	rs756789798,COSM1187467	2/10	PASS	ENST00000297532	Transcript	.	.	ENSG00000164896	24676	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.007)	.	tolerated_low_confidence(0.05)	0,1	FASTK_HUMAN	FASTK	HGNC	.	.	UPI0000000CBA	SNV	FASTK,missense_variant,p.Arg14Gln,ENST00000540185,;FASTK,missense_variant,p.Arg48Gln,ENST00000297532,;FASTK,missense_variant,p.Arg48Gln,ENST00000482571,;FASTK,intron_variant,,ENST00000353841,;SLC4A2,downstream_gene_variant,,ENST00000413384,;TMUB1,downstream_gene_variant,,ENST00000392818,;SLC4A2,downstream_gene_variant,,ENST00000485713,;SLC4A2,downstream_gene_variant,,ENST00000392826,;TMUB1,downstream_gene_variant,,ENST00000492838,;TMUB1,downstream_gene_variant,,ENST00000488752,;TMUB1,downstream_gene_variant,,ENST00000297533,;SLC4A2,downstream_gene_variant,,ENST00000310317,;SLC4A2,downstream_gene_variant,,ENST00000461735,;TMUB1,downstream_gene_variant,,ENST00000482202,;TMUB1,downstream_gene_variant,,ENST00000462940,;TMUB1,downstream_gene_variant,,ENST00000476627,;RP11-148K1.12,upstream_gene_variant,,ENST00000485974,;FASTK,non_coding_transcript_exon_variant,,ENST00000496663,;FASTK,non_coding_transcript_exon_variant,,ENST00000478477,;FASTK,intron_variant,,ENST00000489884,;FASTK,intron_variant,,ENST00000461979,;FASTK,non_coding_transcript_exon_variant,,ENST00000482806,;FASTK,non_coding_transcript_exon_variant,,ENST00000467237,;FASTK,intron_variant,,ENST00000460980,;SLC4A2,downstream_gene_variant,,ENST00000472204,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000469237,;FASTK,upstream_gene_variant,,ENST00000459800,;SLC4A2,downstream_gene_variant,,ENST00000469467,;FASTK,upstream_gene_variant,,ENST00000465272,;	221	197	197	SUCCESS
ELFN1	392617	.	GRCh37	7	1733391	1733391	+	intron_variant	Intron	SNP	G	G	A	rs573175170	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	67	0	ENST00000424383.2:c.-456+5605G>A		p.*152*	ENST00000424383		47		0	.	.	.	.	.	A	D	protein_coding	YES	.	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGTCTGG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000371968	.	2/2	.	.	.	.	.	.	.	.	rs573175170	2/2	PASS	ENST00000382528	Transcript	.	.	ENSG00000205971	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC074389.6	Clone_based_vega_gene	A2RU56_HUMAN	.	UPI0000D61BE9	SNV	AC074389.6,synonymous_variant,p.%3D,ENST00000382528,;ELFN1,intron_variant,,ENST00000424383,;AC074389.7,upstream_gene_variant,,ENST00000450458,;	478	67	66	SUCCESS
ADCYAP1R1	117	.	GRCh37	7	31146182	31146182	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1417501235	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	51	151	1	ENST00000304166.4:c.1291C>T	p.Arg431Ter	p.R431*	ENST00000304166	NM_001199636.1	431	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS56480.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCGACAC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Prints_domain:PR01156	.	.	ENSP00000379514	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000396211	Transcript	.	.	ENSG00000078549	242	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACR_HUMAN	ADCYAP1R1	HGNC	Q6S991_HUMAN,Q6RKA2_HUMAN,C9JVH3_HUMAN	.	UPI0000DA58BA	SNV	ADCYAP1R1,stop_gained,p.Arg410Ter,ENST00000409363,;ADCYAP1R1,stop_gained,p.Arg487Ter,ENST00000409489,;ADCYAP1R1,stop_gained,p.Arg431Ter,ENST00000304166,;ADCYAP1R1,stop_gained,p.Arg459Ter,ENST00000396211,;ADCYAP1R1,downstream_gene_variant,,ENST00000436116,;	1446	152	147	SUCCESS
CDK13	8621	.	GRCh37	7	40133764	40133764	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	140	0	ENST00000181839.4:c.3724A>C	p.Ile1242Leu	p.I1242L	ENST00000181839	NM_031267.3	1242	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS5461.1	3724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGATCTTG	NONE	.	.	hmmpanther:PTHR24056:SF125,hmmpanther:PTHR24056	.	.	ENSP00000181839	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000181839	Transcript	.	.	ENSG00000065883	1733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	CDK13_HUMAN	CDK13	HGNC	.	.	UPI000013C5E3	SNV	CDK13,missense_variant,p.Ile1182Leu,ENST00000340829,;CDK13,missense_variant,p.Ile1242Leu,ENST00000181839,;CDK13,non_coding_transcript_exon_variant,,ENST00000465643,;CDK13,downstream_gene_variant,,ENST00000478563,;	4329	140	109	SUCCESS
SDAD1P1	157489	.	GRCh37	8	26238914	26238914	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	10	0	ENST00000519902.1:n.1035A>G		p.*345*	ENST00000519902				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6050.1	.	MUTECT|MUSE	.	CACATTGGATG	NONE	.	1500	.	.	.	ENSP00000370003	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380629	Transcript	.	.	ENSG00000104765	1085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BNI3L_HUMAN	BNIP3L	HGNC	Q6IBV1_HUMAN,B4DTN1_HUMAN,B0AZS9_HUMAN	.	UPI000004CF4D	SNV	BNIP3L,upstream_gene_variant,,ENST00000380629,;BNIP3L,upstream_gene_variant,,ENST00000523949,;BNIP3L,upstream_gene_variant,,ENST00000520409,;BNIP3L,upstream_gene_variant,,ENST00000523515,;SDAD1P1,non_coding_transcript_exon_variant,,ENST00000519902,;BNIP3L,upstream_gene_variant,,ENST00000520077,;SDAD1P1,non_coding_transcript_exon_variant,,ENST00000524156,;	.	10	9	SUCCESS
STAR	6770	.	GRCh37	8	38006210	38006210	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	42	0	ENST00000276449.4:c.127C>T	p.Pro43Ser	p.P43S	ENST00000276449	NM_000349.2	43	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6102.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGGCCCC	NONE	.	.	hmmpanther:PTHR12136:SF9,hmmpanther:PTHR12136	.	.	ENSP00000276449	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000276449	Transcript	1	.	ENSG00000147465	11359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.32)	.	STAR_HUMAN	STAR	HGNC	Q6QNJ9_HUMAN,Q6IBK0_HUMAN,E5RH12_HUMAN	.	UPI000013DAC9	SNV	STAR,missense_variant,p.Pro22Ser,ENST00000522050,;STAR,missense_variant,p.Pro43Ser,ENST00000276449,;STAR,5_prime_UTR_variant,,ENST00000521236,;RP11-90P5.2,upstream_gene_variant,,ENST00000520598,;STAR,non_coding_transcript_exon_variant,,ENST00000520114,;ASH2L,downstream_gene_variant,,ENST00000521808,;	574	42	17	SUCCESS
POLB	5423	.	GRCh37	8	42218856	42218856	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	70	0	ENST00000265421.4:c.594C>A	p.Pro198=	p.P198=	ENST00000265421	NM_002690.2	198	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6129.1	594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCCAGCTT	NONE	.	.	hmmpanther:PTHR11276,PROSITE_patterns:PS00522,Gene3D:3.30.460.10,Pfam_domain:PF14792,SMART_domains:SM00483,Superfamily_domains:SSF81301,Prints_domain:PR00869	.	.	ENSP00000265421	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000265421	Transcript	.	.	ENSG00000070501	9174	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLB_HUMAN	POLB	HGNC	Q6LBJ9_HUMAN,E5RJ55_HUMAN,E5RHZ4_HUMAN,B7Z1W5_HUMAN	.	UPI000013D61E	SNV	POLB,synonymous_variant,p.%3D,ENST00000518579,;POLB,synonymous_variant,p.%3D,ENST00000538005,;POLB,synonymous_variant,p.%3D,ENST00000520008,;POLB,synonymous_variant,p.%3D,ENST00000521290,;POLB,synonymous_variant,p.%3D,ENST00000518925,;POLB,synonymous_variant,p.%3D,ENST00000265421,;POLB,synonymous_variant,p.%3D,ENST00000517393,;POLB,downstream_gene_variant,,ENST00000532157,;POLB,3_prime_UTR_variant,,ENST00000524208,;POLB,3_prime_UTR_variant,,ENST00000522610,;POLB,3_prime_UTR_variant,,ENST00000519771,;POLB,non_coding_transcript_exon_variant,,ENST00000519524,;POLB,downstream_gene_variant,,ENST00000523465,;	764	70	36	SUCCESS
PXDNL	137902	.	GRCh37	8	52323847	52323847	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	68	73	1	ENST00000356297.4:c.2025T>C	p.Arg675=	p.R675=	ENST00000356297	NM_144651.4	675	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS47855.1	2025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACACGTTC	NONE	.	.	hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475	.	.	ENSP00000348645	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,synonymous_variant,p.%3D,ENST00000543296,;PXDNL,synonymous_variant,p.%3D,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	2126	74	99	SUCCESS
TGS1	96764	.	GRCh37	8	56711552	56711552	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs914201519	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	26	119	0	ENST00000260129.5:c.1622A>G	p.His541Arg	p.H541R	ENST00000260129	NM_024831.6	541	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS34894.1	1622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCACGACG	NONE	.	.	hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32	.	.	ENSP00000260129	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000260129	Transcript	.	.	ENSG00000137574	17843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.05)	.	TGS1_HUMAN	TGS1	HGNC	.	.	UPI0000DBEF24	SNV	TGS1,missense_variant,p.His541Arg,ENST00000260129,;TGS1,3_prime_UTR_variant,,ENST00000523948,;TGS1,non_coding_transcript_exon_variant,,ENST00000519494,;	2099	119	143	SUCCESS
CRISPLD1	83690	.	GRCh37	8	75929313	75929313	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	45	196	0	ENST00000262207.4:c.961A>G	p.Lys321Glu	p.K321E	ENST00000262207	NM_031461.5	321	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6219.1	961	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGTAAAGCT	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR10334:SF73,hmmpanther:PTHR10334,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000262207	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000262207	Transcript	.	.	ENSG00000121005	18206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	tolerated(0.06)	.	CRLD1_HUMAN	CRISPLD1	HGNC	E5RJS4_HUMAN,B7Z8V9_HUMAN	.	UPI00000422F5	SNV	CRISPLD1,missense_variant,p.Lys321Glu,ENST00000262207,;CRISPLD1,missense_variant,p.Lys135Glu,ENST00000517786,;CRISPLD1,missense_variant,p.Lys133Glu,ENST00000523524,;CRISPLD1,downstream_gene_variant,,ENST00000520277,;CRISPLD1,downstream_gene_variant,,ENST00000519798,;	1429	196	278	SUCCESS
CNBD1	168975	.	GRCh37	8	88296944	88296944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	7	154	0	ENST00000518476.1:c.810G>T	p.Met270Ile	p.M270I	ENST00000518476	NM_173538.2	270	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS55259.1	810	MUTECT|MUSE	.	GTTATGCCTCA	NONE	.	.	hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF124,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000430073	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000518476	Transcript	.	.	ENSG00000176571	26663	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.61)	.	CNBD1_HUMAN	CNBD1	HGNC	.	.	UPI000006EA68	SNV	CNBD1,missense_variant,p.Met270Ile,ENST00000518476,;CNBD1,upstream_gene_variant,,ENST00000523299,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522427,;	861	155	200	SUCCESS
CDH17	1015	.	GRCh37	8	95164135	95164135	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs189236130	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	76	84	0	ENST00000027335.3:c.1757G>A	p.Gly586Asp	p.G586D	ENST00000027335	NM_004063.3	586	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS6260.1	1757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCCCACT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000027335	.	13/18	.	.	.	.	.	.	.	.	rs746725283,COSM2791316	13/18	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.616)	.	deleterious(0.02)	0,1	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,missense_variant,p.Gly372Asp,ENST00000441892,;CDH17,missense_variant,p.Gly586Asp,ENST00000450165,;CDH17,missense_variant,p.Gly586Asp,ENST00000027335,;CDH17,intron_variant,,ENST00000520952,;	1882	84	105	SUCCESS
ZNF483	158399	.	GRCh37	9	114304529	114304529	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	96	0	ENST00000309235.5:c.1314T>C	p.Thr438=	p.T438=	ENST00000309235	NM_133464.2	438	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS35106.1	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTCATAA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF128,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000311679	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000309235	Transcript	.	.	ENSG00000173258	23384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN483_HUMAN	ZNF483	HGNC	.	.	UPI00001C1EBF	SNV	ZNF483,synonymous_variant,p.%3D,ENST00000309235,;ZNF483,intron_variant,,ENST00000358151,;ZNF483,downstream_gene_variant,,ENST00000355824,;	1472	96	73	SUCCESS
RAB14	51552	.	GRCh37	9	123943729	123943729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	165	0	ENST00000373840.4:c.593A>G	p.Gln198Arg	p.Q198R	ENST00000373840	NM_016322.3	198	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS6827.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTGCGGG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF185,Gene3D:3.40.50.300,SMART_domains:SM00176	.	.	ENSP00000362946	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000373840	Transcript	.	.	ENSG00000119396	16524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.98)	.	RAB14_HUMAN	RAB14	HGNC	.	.	UPI0000006BF0	SNV	RAB14,missense_variant,p.Gln198Arg,ENST00000373840,;CNTRL,downstream_gene_variant,,ENST00000373855,;CNTRL,downstream_gene_variant,,ENST00000373850,;CNTRL,downstream_gene_variant,,ENST00000238341,;RAB14,downstream_gene_variant,,ENST00000451303,;CNTRL,downstream_gene_variant,,ENST00000373845,;	831	165	126	SUCCESS
ANGPTL2	23452	.	GRCh37	9	129854065	129854065	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	109	0	ENST00000373425.3:c.1166A>C	p.Glu389Ala	p.E389A	ENST00000373425	NM_012098.2	389	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS6868.1	1166	MUTECT|MUSE	.	CGCTCTCAGGT	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF24,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000362524	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000373425	Transcript	.	.	ENSG00000136859	490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	ANGL2_HUMAN	ANGPTL2	HGNC	Q8NCH7_HUMAN,Q8N2J9_HUMAN	.	UPI0000049E07	SNV	ANGPTL2,missense_variant,p.Glu389Ala,ENST00000373425,;ANGPTL2,missense_variant,p.Glu87Ala,ENST00000373417,;RALGPS1,intron_variant,,ENST00000394022,;RALGPS1,intron_variant,,ENST00000424082,;RALGPS1,intron_variant,,ENST00000373436,;RALGPS1,intron_variant,,ENST00000259351,;RALGPS1,intron_variant,,ENST00000373434,;	1784	109	88	SUCCESS
C9orf163	158055	.	GRCh37	9	139379108	139379108	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	107	0	ENST00000354376.1:c.208G>C	p.Gly70Arg	p.G70R	ENST00000354376	NM_152571.2	70	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS7001.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGGGGTG	NONE	.	.	.	.	.	ENSP00000346345	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354376	Transcript	.	.	ENSG00000196366	26718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated_low_confidence(0.05)	.	CI163_HUMAN	C9orf163	HGNC	.	.	UPI000006EC86	SNV	C9orf163,missense_variant,p.Gly70Arg,ENST00000354376,;	1162	107	81	SUCCESS
AQP3	360	.	GRCh37	9	33443760	33443760	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	89	0	ENST00000297991.4:c.235+4A>T		p.X79_splice	ENST00000297991	NM_004925.4	79		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6542.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTTACCA	NONE	.	.	.	.	.	ENSP00000297991	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297991	Transcript	.	.	ENSG00000165272	636	.	.	LOW	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQP3_HUMAN	AQP3	HGNC	.	.	UPI0000125D1C	SNV	AQP3,splice_region_variant,,ENST00000297991,;AQP3,splice_region_variant,,ENST00000463983,;AQP3,splice_region_variant,,ENST00000473153,;AQP3,non_coding_transcript_exon_variant,,ENST00000493581,;AQP3,upstream_gene_variant,,ENST00000494313,;	.	89	78	SUCCESS
DOCK8	81704	.	GRCh37	9	376287	376287	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	41	96	0	ENST00000432829.2:c.1983T>C	p.Val661=	p.V661=	ENST00000432829	NM_203447.3	661	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS6440.2	2187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTTTCTTC	NONE	.	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Pfam_domain:PF14429	.	.	ENSP00000408464	.	19/48	.	.	.	.	.	.	.	.	.	19/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,synonymous_variant,p.%3D,ENST00000432829,;DOCK8,synonymous_variant,p.%3D,ENST00000453981,;DOCK8,synonymous_variant,p.%3D,ENST00000382331,;DOCK8,synonymous_variant,p.%3D,ENST00000469391,;DOCK8,synonymous_variant,p.%3D,ENST00000382329,;DOCK8,3_prime_UTR_variant,,ENST00000483757,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	2299	96	85	SUCCESS
KIAA2026	158358	.	GRCh37	9	5921657	5921657	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1414259473	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	116	0	ENST00000399933.3:c.4339A>G	p.Lys1447Glu	p.K1447E	ENST00000399933	NM_001017969.2	1447	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	.	4339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTTTGTGA	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.01)	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,missense_variant,p.Lys1417Glu,ENST00000381461,;KIAA2026,missense_variant,p.Lys1447Glu,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	4339	116	88	SUCCESS
GADD45G	10912	.	GRCh37	9	92220779	92220779	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	76	0	ENST00000252506.6:c.353A>C	p.His118Pro	p.H118P	ENST00000252506	NM_006705.3	118	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS6686.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCACTGCA	NONE	.	.	hmmpanther:PTHR10411:SF4,hmmpanther:PTHR10411,Superfamily_domains:SSF55315	.	.	ENSP00000252506	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000252506	Transcript	.	.	ENSG00000130222	4097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0)	.	GA45G_HUMAN	GADD45G	HGNC	Q5VZ88_HUMAN,Q5VZ87_HUMAN,Q5MAI3_HUMAN	.	UPI000012AEF1	SNV	GADD45G,missense_variant,p.His118Pro,ENST00000252506,;GADD45G,missense_variant,p.His100Pro,ENST00000375769,;GADD45G,non_coding_transcript_exon_variant,,ENST00000494726,;	462	76	65	SUCCESS
PDZD4	57595	.	GRCh37	X	153068845	153068845	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781840928	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	30	0	ENST00000164640.4:c.2273G>A	p.Arg758Gln	p.R758Q	ENST00000164640	NM_032512.2	758	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS14732.1	2273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGCTTG	NONE	.	.	hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4	.	.	ENSP00000164640	.	8/8	.	.	.	.	.	.	.	.	rs781840928	8/8	PASS	ENST00000164640	Transcript	.	.	ENSG00000067840	21167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.484)	.	deleterious(0.02)	.	PDZD4_HUMAN	PDZD4	HGNC	Q17RL8_HUMAN	.	UPI0000211CAA	SNV	PDZD4,missense_variant,p.Arg758Gln,ENST00000164640,;PDZD4,missense_variant,p.Arg683Gln,ENST00000393758,;PDZD4,missense_variant,p.Arg649Gln,ENST00000544474,;SSR4,downstream_gene_variant,,ENST00000370085,;SSR4,downstream_gene_variant,,ENST00000320857,;SSR4,downstream_gene_variant,,ENST00000370087,;SSR4,downstream_gene_variant,,ENST00000370086,;PDZD4,downstream_gene_variant,,ENST00000480418,;SSR4,downstream_gene_variant,,ENST00000485612,;PDZD4,downstream_gene_variant,,ENST00000475140,;SSR4,downstream_gene_variant,,ENST00000471880,;SSR4,downstream_gene_variant,,ENST00000486204,;PDZD4,downstream_gene_variant,,ENST00000468491,;SSR4,downstream_gene_variant,,ENST00000482902,;SSR4,downstream_gene_variant,,ENST00000460616,;PDZD4,downstream_gene_variant,,ENST00000484792,;PDZD4,downstream_gene_variant,,ENST00000483693,;SSR4,downstream_gene_variant,,ENST00000447375,;PDZD4,downstream_gene_variant,,ENST00000480650,;	2465	30	20	SUCCESS
CXorf38	159013	.	GRCh37	X	40506585	40506585	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	20	0	ENST00000327877.5:c.188G>A	p.Gly63Asp	p.G63D	ENST00000327877	NM_144970.2	63	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS14253.1	188	MUTECT|MUSE	.	GTGAGCCGCCG	NONE	.	.	Pfam_domain:PF15112	.	.	ENSP00000330488	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000327877	Transcript	.	.	ENSG00000185753	28589	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.628)	.	deleterious(0.02)	.	CX038_HUMAN	CXorf38	HGNC	.	.	UPI000007293E	SNV	CXorf38,missense_variant,p.Gly63Asp,ENST00000327877,;CXorf38,missense_variant,p.Gly63Asp,ENST00000378418,;CXorf38,missense_variant,p.Gly63Asp,ENST00000440784,;CXorf38,5_prime_UTR_variant,,ENST00000378426,;CXorf38,5_prime_UTR_variant,,ENST00000378421,;MED14,downstream_gene_variant,,ENST00000324817,;MED14,downstream_gene_variant,,ENST00000416199,;	215	20	10	SUCCESS
SHOX	6473	.	GRCh37	X	591360	591360	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	36	0	ENST00000381578.1:c.-273G>A		p.*91*	ENST00000381578	NM_000451.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14107.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATGAAATG	NONE	.	.	.	.	.	ENSP00000370990	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000381578	Transcript	.	.	ENSG00000185960	10853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SHOX_HUMAN	SHOX	HGNC	.	.	UPI0000053471	SNV	SHOX,5_prime_UTR_variant,,ENST00000334060,;SHOX,5_prime_UTR_variant,,ENST00000381578,;SHOX,upstream_gene_variant,,ENST00000554971,;SHOX,upstream_gene_variant,,ENST00000381575,;	419	36	35	SUCCESS
HPSE2	60495	.	GRCh37	10	100380428	100380428	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	104	0	ENST00000370552.3:c.1136T>A	p.Leu379His	p.L379H	ENST00000370552	NM_021828.4	379	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7477.1	1136	MUTECT|MUSE	.	CTTCAAGCCAA	NONE	.	.	hmmpanther:PTHR14363:SF2,hmmpanther:PTHR14363,Gene3D:3.20.20.80,Pfam_domain:PF03662,Superfamily_domains:SSF51445	.	.	ENSP00000359583	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000370552	Transcript	1	.	ENSG00000172987	18374	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HPSE2_HUMAN	HPSE2	HGNC	.	.	UPI00001AEEC0	SNV	HPSE2,missense_variant,p.Leu267His,ENST00000404542,;HPSE2,missense_variant,p.Leu379His,ENST00000370552,;HPSE2,missense_variant,p.Leu379His,ENST00000370546,;HPSE2,missense_variant,p.Leu321His,ENST00000370549,;	1196	104	90	SUCCESS
CNNM1	26507	.	GRCh37	10	101089318	101089318	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	50	0	ENST00000356713.4:c.179del	p.Gly60AlafsTer174	p.G60Afs*174	ENST00000356713	NM_020348.2	58	gaG/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS7478.2	174	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGGAGGGGGG	NONE	.	.	hmmpanther:PTHR12064:SF28,hmmpanther:PTHR12064	.	.	ENSP00000349147	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000356713	Transcript	.	.	ENSG00000119946	102	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNNM1_HUMAN	CNNM1	HGNC	F2YHU6_HUMAN,B3KPD2_HUMAN	.	UPI0000E19A44	deletion	CNNM1,frameshift_variant,p.Gly60AlafsTer103,ENST00000446890,;CNNM1,frameshift_variant,p.Gly60AlafsTer103,ENST00000370528,;CNNM1,frameshift_variant,p.Gly60AlafsTer174,ENST00000356713,;CNNM1,upstream_gene_variant,,ENST00000370534,;	463	50	47	SUCCESS
PKD2L1	9033	.	GRCh37	10	102058491	102058491	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	123	0	ENST00000318222.3:c.559T>C	p.Phe187Leu	p.F187L	ENST00000318222	NM_016112.2	187	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7492.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAAGGAGT	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105,Pfam_domain:PF08016,Prints_domain:PR01433	.	.	ENSP00000325296	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000318222	Transcript	.	.	ENSG00000107593	9011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	tolerated(0.08)	.	PK2L1_HUMAN	PKD2L1	HGNC	.	.	UPI0000130FED	SNV	PKD2L1,missense_variant,p.Phe187Leu,ENST00000318222,;PKD2L1,missense_variant,p.Phe187Leu,ENST00000353274,;PKD2L1,missense_variant,p.Phe187Leu,ENST00000338519,;PKD2L1,intron_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;PKD2L1,downstream_gene_variant,,ENST00000532547,;	942	123	123	SUCCESS
SEMA4G	57715	.	GRCh37	10	102740362	102740362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	100	0	ENST00000370250.4:c.1379T>A	p.Val460Asp	p.V460D	ENST00000370250	NM_017893.3	460	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS7501.1	1379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAGTCCTGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF17,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000210633	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000210633	Transcript	.	.	ENSG00000095539	10735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.63)	.	SEM4G_HUMAN	SEMA4G	HGNC	E5RGX4_HUMAN,E5RFG2_HUMAN	.	UPI0000044D39	SNV	SEMA4G,missense_variant,p.Val460Asp,ENST00000517724,;SEMA4G,missense_variant,p.Val460Asp,ENST00000210633,;SEMA4G,missense_variant,p.Val460Asp,ENST00000519649,;SEMA4G,missense_variant,p.Val460Asp,ENST00000370250,;MRPL43,intron_variant,,ENST00000370241,;MRPL43,intron_variant,,ENST00000523148,;MRPL43,intron_variant,,ENST00000318325,;MRPL43,intron_variant,,ENST00000370242,;MRPL43,downstream_gene_variant,,ENST00000299179,;SEMA4G,upstream_gene_variant,,ENST00000476171,;MRPL43,downstream_gene_variant,,ENST00000448244,;MRPL43,downstream_gene_variant,,ENST00000342071,;SEMA4G,downstream_gene_variant,,ENST00000518124,;RP11-108L7.4,non_coding_transcript_exon_variant,,ENST00000447344,;SEMA4G,upstream_gene_variant,,ENST00000484128,;SEMA4G,downstream_gene_variant,,ENST00000519756,;MRPL43,downstream_gene_variant,,ENST00000476012,;SEMA4G,missense_variant,p.Val460Asp,ENST00000521006,;SEMA4G,upstream_gene_variant,,ENST00000518948,;	1457	100	109	SUCCESS
LZTS2	84445	.	GRCh37	10	102763834	102763834	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1343863511	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	96	0	ENST00000370220.1:c.979T>C	p.Cys327Arg	p.C327R	ENST00000370220		327	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS7507.1	979	MUTECT|MUSE|VARSCANS	.	TGCACTGTGTC	NONE	.	.	HAMAP:MF_03026,hmmpanther:PTHR19354:SF4,hmmpanther:PTHR19354	.	.	ENSP00000359240	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000370220	Transcript	.	.	ENSG00000107816	29381	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.61)	.	LZTS2_HUMAN	LZTS2	HGNC	S4R3W7_HUMAN,Q9BRY6_HUMAN,B1AL13_HUMAN,B1AL12_HUMAN,B1AL11_HUMAN	.	UPI00001BD944	SNV	LZTS2,missense_variant,p.Cys327Arg,ENST00000370223,;LZTS2,missense_variant,p.Cys327Arg,ENST00000370220,;LZTS2,downstream_gene_variant,,ENST00000429732,;LZTS2,downstream_gene_variant,,ENST00000481129,;LZTS2,downstream_gene_variant,,ENST00000426584,;LZTS2,downstream_gene_variant,,ENST00000454422,;LZTS2,downstream_gene_variant,,ENST00000489526,;PDZD7,downstream_gene_variant,,ENST00000474125,;	4042	96	87	SUCCESS
LDB1	8861	.	GRCh37	10	103870859	103870859	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	69	0	ENST00000425280.1:c.216T>C	p.Phe72=	p.F72=	ENST00000425280	NM_001113407.1	72	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS44472.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCAAATAT	NONE	.	.	hmmpanther:PTHR10378:SF7,hmmpanther:PTHR10378,Pfam_domain:PF01803	.	.	ENSP00000392466	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000425280	Transcript	.	.	ENSG00000198728	6532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDB1_HUMAN	LDB1	HGNC	.	.	UPI00001F95EA	SNV	LDB1,synonymous_variant,p.%3D,ENST00000425280,;LDB1,synonymous_variant,p.%3D,ENST00000361198,;LDB1,non_coding_transcript_exon_variant,,ENST00000461873,;LDB1,non_coding_transcript_exon_variant,,ENST00000490751,;	559	69	64	SUCCESS
RPEL1	729020	.	GRCh37	10	105005831	105005831	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	48	145	0	ENST00000441178.2:c.78G>A	p.Met26Ile	p.M26I	ENST00000441178	NM_001143909.1	26	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS65929.1	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGCTAGA	NONE	.	.	Superfamily_domains:SSF51366,PIRSF_domain:PIRSF001461,Gene3D:3.20.20.70,Pfam_domain:PF00834,hmmpanther:PTHR11749	.	.	ENSP00000476672	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000441178	Transcript	.	.	ENSG00000235376	45241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(0.1)	.	.	RPEL1	HGNC	Q2QD12_HUMAN	.	UPI00001C1ED0	SNV	RPEL1,missense_variant,p.Met26Ile,ENST00000441178,;	188	145	147	SUCCESS
INA	9118	.	GRCh37	10	105046846	105046846	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374804947	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	109	0	ENST00000369849.4:c.1120C>T	p.Arg374Cys	p.R374C	ENST00000369849	NM_032727.3	374	Cgc/Tgc	0	T:0	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS7545.1	1120	MUTECT|MUSE	.	TGGCACGCCAC	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593	T:0	T:0.0001	ENSP00000358865	T:0	2/3	.	.	.	.	.	.	.	.	rs374804947	2/3	PASS	ENST00000369849	Transcript	.	T:0.0002	ENSG00000148798	6057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.212)	T:0.001	deleterious(0.01)	.	AINX_HUMAN	INA	HGNC	B4DE66_HUMAN	.	UPI000012573C	SNV	INA,missense_variant,p.Arg374Cys,ENST00000369849,;	1169	109	96	SUCCESS
PDCD11	22984	.	GRCh37	10	105182857	105182857	+	synonymous_variant	Silent	SNP	C	C	A	rs141472462	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	146	0	ENST00000369797.3:c.2610C>A	p.Pro870=	p.P870=	ENST00000369797	NM_014976.1	870	ccC/ccA	0	T:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS31276.1	2610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCCGACCT	NONE	byCluster	.	hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,SMART_domains:SM00316	.	T:0	ENSP00000358812	.	18/36	.	.	.	.	.	.	.	.	rs141472462	18/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,synonymous_variant,p.%3D,ENST00000369797,;PDCD11,upstream_gene_variant,,ENST00000490787,;	2704	146	121	SUCCESS
SLK	9748	.	GRCh37	10	105762305	105762305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	100	0	ENST00000369755.3:c.1369A>T	p.Ile457Leu	p.I457L	ENST00000369755	NM_014720.2	457	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS7553.1	1369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGATAACC	NONE	.	.	hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361	.	.	ENSP00000358770	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000369755	Transcript	.	.	ENSG00000065613	11088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.8)	.	SLK_HUMAN	SLK	HGNC	.	.	UPI000004B6D3	SNV	SLK,missense_variant,p.Ile457Leu,ENST00000369755,;SLK,missense_variant,p.Ile457Leu,ENST00000335753,;	1914	100	96	SUCCESS
ITPRIP	85450	.	GRCh37	10	106075738	106075738	+	synonymous_variant	Silent	SNP	C	C	T	rs772932321	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	48	0	ENST00000278071.2:c.72G>A	p.Pro24=	p.P24=	ENST00000278071	NM_033397.3	24	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7557.1	72	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCGGGAA	NONE	byFrequency	.	.	.	.	ENSP00000278071	.	3/3	.	.	.	.	.	.	.	.	rs772932321	3/3	PASS	ENST00000278071	Transcript	.	.	ENSG00000148841	29370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPRI_HUMAN	ITPRIP	HGNC	.	.	UPI0000074521	SNV	ITPRIP,synonymous_variant,p.%3D,ENST00000337478,;ITPRIP,synonymous_variant,p.%3D,ENST00000358187,;ITPRIP,synonymous_variant,p.%3D,ENST00000458723,;ITPRIP,synonymous_variant,p.%3D,ENST00000278071,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;	525	48	49	SUCCESS
SORCS3	22986	.	GRCh37	10	106401491	106401491	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1160073186	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	65	0	ENST00000369701.3:c.410del	p.Pro137GlnfsTer32	p.P137Qfs*32	ENST00000369701	NM_014978.1	136	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7558.1	406	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGCAGCCCCCA	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106	.	.	ENSP00000358715	.	1/27	.	.	.	.	.	.	.	.	rs373150688	1/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	deletion	SORCS3,frameshift_variant,p.Pro137GlnfsTer32,ENST00000369701,;	633	65	100	SUCCESS
SMC3	9126	.	GRCh37	10	112337617	112337617	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	80	0	ENST00000361804.4:c.295C>T	p.Arg99Ter	p.R99*	ENST00000361804	NM_005445.3	99	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS31285.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCGAAGA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF02463,Gene3D:3.40.50.300,hmmpanther:PTHR18937:SF164,hmmpanther:PTHR18937	.	.	ENSP00000354720	.	6/29	.	.	.	.	.	.	.	.	COSM914737	6/29	PASS	ENST00000361804	Transcript	1	.	ENSG00000108055	2468	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SMC3_HUMAN	SMC3	HGNC	.	.	UPI0000135A8D	SNV	SMC3,stop_gained,p.Arg99Ter,ENST00000361804,;snoU13,downstream_gene_variant,,ENST00000458966,;SMC3,non_coding_transcript_exon_variant,,ENST00000462899,;	421	80	55	SUCCESS
TCF7L2	6934	.	GRCh37	10	114900984	114900984	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs778855667	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	37	144	0	ENST00000543371.1:c.598del	p.Leu200SerfsTer25	p.L200Sfs*25	ENST00000543371	NM_001198531.1	198	caC/ca	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS53577.1	594	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCCACCCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32,Pfam_domain:PF08347	.	.	ENSP00000444972	.	6/14	.	.	.	.	.	.	.	.	rs778855667,COSM1345825,COSM1345826,COSM1345824	6/14	PASS	ENST00000543371	Transcript	1	.	ENSG00000148737	11641	4	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	.	.	.	0,1,1,1	TF7L2_HUMAN	TCF7L2	HGNC	E2GH26_HUMAN,C6ZRJ8_HUMAN	.	UPI000002B4A6	deletion	TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000538897,;TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000534894,;TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000349937,;TCF7L2,frameshift_variant,p.Leu194SerfsTer25,ENST00000346198,;TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000543371,;TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000545257,;TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000355995,;TCF7L2,frameshift_variant,p.Leu225SerfsTer25,ENST00000369395,;TCF7L2,frameshift_variant,p.Leu200SerfsTer25,ENST00000536810,;TCF7L2,frameshift_variant,p.Leu177SerfsTer25,ENST00000352065,;TCF7L2,frameshift_variant,p.Leu224SerfsTer25,ENST00000355717,;TCF7L2,frameshift_variant,p.Leu177SerfsTer25,ENST00000369397,;TCF7L2,5_prime_UTR_variant,,ENST00000542695,;TCF7L2,upstream_gene_variant,,ENST00000277945,;TCF7L2,upstream_gene_variant,,ENST00000369389,;	1101	144	158	SUCCESS
TCF7L2	6934	.	GRCh37	10	114901029	114901029	+	synonymous_variant	Silent	SNP	G	G	A	rs772550681	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	124	0	ENST00000543371.1:c.639G>A	p.Pro213=	p.P213=	ENST00000543371	NM_001198531.1	213	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS53577.1	639	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCGGGAAA	NONE	byFrequency	.	hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32,Pfam_domain:PF08347	.	.	ENSP00000444972	.	6/14	.	.	.	.	.	.	.	.	rs772550681	6/14	PASS	ENST00000543371	Transcript	1	.	ENSG00000148737	11641	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TF7L2_HUMAN	TCF7L2	HGNC	E2GH26_HUMAN,C6ZRJ8_HUMAN	.	UPI000002B4A6	SNV	TCF7L2,synonymous_variant,p.%3D,ENST00000538897,;TCF7L2,synonymous_variant,p.%3D,ENST00000534894,;TCF7L2,synonymous_variant,p.%3D,ENST00000349937,;TCF7L2,synonymous_variant,p.%3D,ENST00000346198,;TCF7L2,synonymous_variant,p.%3D,ENST00000543371,;TCF7L2,synonymous_variant,p.%3D,ENST00000545257,;TCF7L2,synonymous_variant,p.%3D,ENST00000355995,;TCF7L2,synonymous_variant,p.%3D,ENST00000369395,;TCF7L2,synonymous_variant,p.%3D,ENST00000536810,;TCF7L2,synonymous_variant,p.%3D,ENST00000352065,;TCF7L2,synonymous_variant,p.%3D,ENST00000355717,;TCF7L2,synonymous_variant,p.%3D,ENST00000369397,;TCF7L2,5_prime_UTR_variant,,ENST00000542695,;TCF7L2,upstream_gene_variant,,ENST00000277945,;TCF7L2,upstream_gene_variant,,ENST00000369389,;	1146	124	94	SUCCESS
C10orf118	0	.	GRCh37	10	115922363	115922363	+	intron_variant	Intron	DEL	A	A	-	rs758198133	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	55	0	ENST00000369287.3:c.632+33del		p.*211*	ENST00000369287	NM_018017.2			0	-:0.0194	.	.	.	.	-	.	protein_coding	YES	CCDS7587.1	.	INDELOCATOR|VARSCANI	.	TGAGGGAAAAAA	NONE	byFrequency	.	.	.	-:0.022	ENSP00000358293	.	.	.	.	.	.	.	.	.	.	rs758198133	.	PASS	ENST00000369287	Transcript	.	.	ENSG00000165813	24349	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CJ118_HUMAN	C10orf118	HGNC	Q496Y1_HUMAN	.	UPI00001D3EF5	deletion	C10orf118,3_prime_UTR_variant,,ENST00000369285,;C10orf118,3_prime_UTR_variant,,ENST00000369286,;C10orf118,intron_variant,,ENST00000369287,;	.	55	63	SUCCESS
CCDC172	374355	.	GRCh37	10	118116936	118116936	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs768483146	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	9	228	0	ENST00000333254.3:c.493C>T	p.Gln165Ter	p.Q165*	ENST00000333254	NM_198515.2	165	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS31291.1	493	MUTECT|MUSE	.	AACTTCAAAAA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22419,hmmpanther:PTHR22419:SF2	.	.	ENSP00000329860	.	6/9	.	.	.	.	.	.	.	.	rs768483146	6/9	PASS	ENST00000333254	Transcript	.	.	ENSG00000182645	30524	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC172_HUMAN	CCDC172	HGNC	.	.	UPI000000DAB5	SNV	CCDC172,stop_gained,p.Gln165Ter,ENST00000333254,;	744	228	211	SUCCESS
VAX1	11023	.	GRCh37	10	118896110	118896110	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	53	102	0	ENST00000369206.5:c.302A>C	p.Lys101Thr	p.K101T	ENST00000369206	NM_001112704.1	101	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS44483.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTTAGGC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24339:SF27,hmmpanther:PTHR24339,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000358207	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000369206	Transcript	1	.	ENSG00000148704	12660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	VAX1_HUMAN	VAX1	HGNC	.	.	UPI000013DB43	SNV	VAX1,missense_variant,p.Lys101Thr,ENST00000277905,;VAX1,missense_variant,p.Lys101Thr,ENST00000369206,;	302	102	114	SUCCESS
OAT	4942	.	GRCh37	10	126100693	126100693	+	synonymous_variant	Silent	SNP	G	G	A	rs143526711	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	38	99	0	ENST00000368845.5:c.48C>T	p.Arg16=	p.R16=	ENST00000368845	NM_000274.3	16	cgC/cgT	0	A:0.0009	A:0.003	.	A:0	.	A	R	protein_coding	YES	CCDS7639.1	48	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGCGACT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11986:SF18,hmmpanther:PTHR11986,PIRSF_domain:PIRSF000521	A:0	A:0	ENSP00000357838	A:0	2/10	.	.	.	.	.	.	.	.	rs143526711	2/10	PASS	ENST00000368845	Transcript	1	A:0.0008	ENSG00000065154	8091	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	OAT_HUMAN	OAT	HGNC	.	.	UPI0000000C1B	SNV	OAT,synonymous_variant,p.%3D,ENST00000368845,;OAT,intron_variant,,ENST00000539214,;OAT,non_coding_transcript_exon_variant,,ENST00000492376,;OAT,non_coding_transcript_exon_variant,,ENST00000476917,;OAT,non_coding_transcript_exon_variant,,ENST00000490096,;OAT,upstream_gene_variant,,ENST00000467675,;	141	99	85	SUCCESS
UCMA	221044	.	GRCh37	10	13271640	13271640	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs748913414	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	77	0	ENST00000378681.3:c.290T>C	p.Phe97Ser	p.F97S	ENST00000378681	NM_145314.1	97	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS31147.1	290	MUTECT|MUSE|VARSCANS	.	TCTCAAATTCA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000367952	.	4/5	.	.	.	.	.	.	.	.	rs748913414	4/5	PASS	ENST00000378681	Transcript	.	.	ENSG00000165623	25205	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.19)	.	UCMA_HUMAN	UCMA	HGNC	.	.	UPI000015F8FB	SNV	UCMA,missense_variant,p.Phe75Ser,ENST00000463405,;UCMA,missense_variant,p.Phe97Ser,ENST00000378681,;	363	77	53	SUCCESS
PWWP2B	170394	.	GRCh37	10	134218313	134218313	+	synonymous_variant	Silent	SNP	G	G	A	rs376583800	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	47	0	ENST00000305233.5:c.309G>A	p.Pro103=	p.P103=	ENST00000305233	NM_138499.3	103	ccG/ccA	0	A:0.0032	A:0.0053	.	A:0	.	A	P	protein_coding	YES	CCDS7667.2	309	MUTECT|MUSE	.	CCCCCGCCCCT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF6	A:0	A:0.0002	ENSP00000306324	A:0.001	2/3	.	.	.	.	.	.	.	.	rs376583800	2/3	common_in_exac	ENST00000305233	Transcript	.	A:0.0016	ENSG00000171813	25150	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	PWP2B_HUMAN	PWWP2B	HGNC	.	.	UPI00001D7FE3	SNV	PWWP2B,synonymous_variant,p.%3D,ENST00000305233,;PWWP2B,synonymous_variant,p.%3D,ENST00000368609,;	368	47	23	SUCCESS
TTC40	0	.	GRCh37	10	134628105	134628105	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1045182377	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	10	162	0	ENST00000368586.5:c.7261C>T	p.Pro2421Ser	p.P2421S	ENST00000368586	NM_001200049.2	2421	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS58101.1	7261	MUTECT|MUSE	.	GTATGGGTCCA	NONE	.	.	.	.	.	ENSP00000357575	.	53/58	.	.	.	.	.	.	.	.	.	53/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Pro582Ser,ENST00000263170,;TTC40,missense_variant,p.Pro2421Ser,ENST00000368586,;	7362	162	130	SUCCESS
HSPA14	51182	.	GRCh37	10	14885696	14885696	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	17	0	ENST00000378372.3:c.221+3540C>T		p.*74*	ENST00000378372	NM_016299.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7103.1	.	MUTECT|MUSE	.	CAAAGCGGGAG	NONE	.	.	.	.	.	ENSP00000367623	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378372	Transcript	.	.	ENSG00000187522	29526	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HSP7E_HUMAN	HSPA14	HGNC	B4DYI5_HUMAN	.	UPI000013D6A8	SNV	HSPA14,3_prime_UTR_variant,,ENST00000437161,;HSPA14,intron_variant,,ENST00000378372,;HSPA14,intron_variant,,ENST00000441647,;HSPA14,downstream_gene_variant,,ENST00000493178,;HSPA14,downstream_gene_variant,,ENST00000493863,;	.	17	8	SUCCESS
RPP38	10557	.	GRCh37	10	15145341	15145341	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138934702	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	118	0	ENST00000378197.4:c.28C>T	p.Arg10Trp	p.R10W	ENST00000378197	NM_183005.4	10	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS7108.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCGGGGA	NONE	byCluster	.	hmmpanther:PTHR21596,hmmpanther:PTHR21596:SF10	.	T:0.0001	ENSP00000367439	.	3/3	.	.	.	.	.	.	.	.	rs138934702	3/3	PASS	ENST00000378197	Transcript	.	.	ENSG00000152464	30329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	RPP38_HUMAN	RPP38	HGNC	Q5VUC3_HUMAN	.	UPI000006F1AE	SNV	RPP38,missense_variant,p.Arg10Trp,ENST00000378203,;RPP38,missense_variant,p.Arg10Trp,ENST00000378202,;RPP38,missense_variant,p.Arg10Trp,ENST00000378197,;RPP38,missense_variant,p.Arg10Trp,ENST00000378201,;RPP38,missense_variant,p.Arg10Trp,ENST00000441850,;NMT2,downstream_gene_variant,,ENST00000378165,;NMT2,downstream_gene_variant,,ENST00000378150,;NMT2,non_coding_transcript_exon_variant,,ENST00000466201,;RPP38,intron_variant,,ENST00000451677,;NMT2,downstream_gene_variant,,ENST00000486786,;	542	118	73	SUCCESS
ITGA8	8516	.	GRCh37	10	15590538	15590538	+	synonymous_variant	Silent	SNP	G	G	A	rs756052226	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	85	0	ENST00000378076.3:c.2796C>T	p.Ile932=	p.I932=	ENST00000378076	NM_003638.1	932	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31155.1	2796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGATTTG	NONE	byFrequency	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Gene3D:1jv2A04,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000367316	.	27/30	.	.	.	.	.	.	.	.	rs756052226	27/30	PASS	ENST00000378076	Transcript	1	.	ENSG00000077943	6144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,synonymous_variant,p.%3D,ENST00000378076,;	3150	85	71	SUCCESS
CUBN	8029	.	GRCh37	10	16877086	16877086	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	8	134	0	ENST00000377833.4:c.10289A>G	p.Asn3430Ser	p.N3430S	ENST00000377833	NM_001081.3	3430	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS7113.1	10289	MUTECT|MUSE|VARSCANS	.	TGTGGTTCTGG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	64/67	.	.	.	.	.	.	.	.	.	64/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.361)	.	tolerated(0.06)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Asn3430Ser,ENST00000377833,;	10355	134	99	SUCCESS
SKIDA1	387640	.	GRCh37	10	21804625	21804625	+	synonymous_variant	Silent	SNP	G	G	A	rs763927625	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	96	1	ENST00000449193.2:c.2127C>T	p.Cys709=	p.C709=	ENST00000449193	NM_207371.3	709	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS44363.1	2127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCGCACTT	NONE	.	.	hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187,Pfam_domain:PF15223	.	.	ENSP00000410041	.	4/4	.	.	.	.	.	.	.	.	rs763927625,COSM1347219,COSM1347220	4/4	PASS	ENST00000449193	Transcript	.	.	ENSG00000180592	32697	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	.	SKIDA1	HGNC	E9PAX1_HUMAN	.	UPI00015386B3	SNV	SKIDA1,synonymous_variant,p.%3D,ENST00000444772,;SKIDA1,synonymous_variant,p.%3D,ENST00000449193,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	4380	97	98	SUCCESS
SPAG6	9576	.	GRCh37	10	22634538	22634538	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	59	102	0	ENST00000376624.3:c.-3G>A		p.*1*	ENST00000376624	NM_012443.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7139.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCCATG	NONE	.	.	.	.	.	ENSP00000365811	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000376624	Transcript	.	.	ENSG00000077327	11215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAG6_HUMAN	SPAG6	HGNC	.	.	UPI0000073ED7	SNV	SPAG6,5_prime_UTR_variant,,ENST00000313311,;SPAG6,5_prime_UTR_variant,,ENST00000376624,;SPAG6,5_prime_UTR_variant,,ENST00000376603,;SPAG6,5_prime_UTR_variant,,ENST00000456231,;SPAG6,5_prime_UTR_variant,,ENST00000538630,;SPAG6,5_prime_UTR_variant,,ENST00000435326,;SPAG6,5_prime_UTR_variant,,ENST00000376601,;RP11-573G6.10,upstream_gene_variant,,ENST00000607385,;SPAG6,non_coding_transcript_exon_variant,,ENST00000488555,;	140	102	126	SUCCESS
ARMC3	219681	.	GRCh37	10	23326257	23326257	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs867516472	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	117	0	ENST00000298032.5:c.2468C>T	p.Ala823Val	p.A823V	ENST00000298032	NM_173081.3	823	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7142.1	2468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGCGTGGA	NONE	.	.	Pfam_domain:PF14381,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	.	.	ENSP00000298032	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000298032	Transcript	.	.	ENSG00000165309	30964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,missense_variant,p.Ala816Val,ENST00000409983,;ARMC3,missense_variant,p.Ala823Val,ENST00000298032,;ARMC3,missense_variant,p.Ala560Val,ENST00000376528,;	2552	117	121	SUCCESS
LRRC37A6P	387646	.	GRCh37	10	27538166	27538166	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	71	194	0	ENST00000284414.4:n.1326C>A		p.*442*	ENST00000284414				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAGGTCTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000574842	Transcript	.	.	ENSG00000262412	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-85G18.6	Clone_based_vega_gene	.	.	.	SNV	RP11-85G18.6,intron_variant,,ENST00000574842,;LRRC37A6P,non_coding_transcript_exon_variant,,ENST00000284414,;LRRC37A6P,downstream_gene_variant,,ENST00000575554,;LRRC37A6P,downstream_gene_variant,,ENST00000574795,;LRRC37A6P,non_coding_transcript_exon_variant,,ENST00000448648,;	.	194	173	SUCCESS
RAB18	22931	.	GRCh37	10	27822854	27822854	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs1355728804	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	34	113	0	ENST00000356940.6:c.379-3T>C		p.X127_splice	ENST00000356940	NM_001256410.1	127		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7155.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTAGGAA	NONE	.	.	.	.	.	ENSP00000349415	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356940	Transcript	1	.	ENSG00000099246	14244	.	.	LOW	5/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB18_HUMAN	RAB18	HGNC	B7Z5V3_HUMAN	.	UPI0000000A00	SNV	RAB18,splice_region_variant,,ENST00000356940,;RAB18,splice_region_variant,,ENST00000375802,;RAB18,splice_region_variant,,ENST00000535776,;RAB18,splice_region_variant,,ENST00000423465,;RAB18,intron_variant,,ENST00000465772,;	.	113	108	SUCCESS
SVIL	6840	.	GRCh37	10	29769474	29769474	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	110	0	ENST00000355867.4:c.5369G>A	p.Ser1790Asn	p.S1790N	ENST00000355867	NM_021738.2	1790	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS7164.1	5369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGCTCACC	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753	.	.	ENSP00000364547	.	31/40	.	.	.	.	.	.	.	.	.	31/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	deleterious(0.03)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Ser1790Asn,ENST00000375398,;SVIL,missense_variant,p.Ser582Asn,ENST00000538146,;SVIL,missense_variant,p.Ser1364Asn,ENST00000375400,;SVIL,missense_variant,p.Ser1790Asn,ENST00000355867,;SVIL,missense_variant,p.Ser704Asn,ENST00000535393,;PTCHD3P1,intron_variant,,ENST00000446807,;PTCHD3P1,intron_variant,,ENST00000413405,;PTCHD3P1,intron_variant,,ENST00000423223,;PTCHD3P1,intron_variant,,ENST00000414457,;SVIL,splice_region_variant,,ENST00000460007,;SVIL,downstream_gene_variant,,ENST00000482607,;	5819	110	106	SUCCESS
EPC1	80314	.	GRCh37	10	32581987	32581987	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	85	0	ENST00000263062.8:c.595C>T	p.Arg199Ter	p.R199*	ENST00000263062	NM_025209.3	199	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS7172.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCGCTTCT	NONE	.	.	hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF3	.	.	ENSP00000263062	.	4/15	.	.	.	.	.	.	.	.	COSM1205421	4/15	PASS	ENST00000263062	Transcript	.	.	ENSG00000120616	19876	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	EPC1_HUMAN	EPC1	HGNC	Q68DJ2_HUMAN	.	UPI000006F77F	SNV	EPC1,stop_gained,p.Arg199Ter,ENST00000319778,;EPC1,stop_gained,p.Arg149Ter,ENST00000375110,;EPC1,stop_gained,p.Arg199Ter,ENST00000263062,;EPC1,non_coding_transcript_exon_variant,,ENST00000495790,;	865	85	78	SUCCESS
CREM	1390	.	GRCh37	10	35456514	35456514	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	33	0	ENST00000345491.3:c.169-11303T>C		p.*57*	ENST00000345491	NM_181571.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7180.1	.	MUTECT|MUSE	.	TGTGTTACAAC	NONE	.	.	.	.	.	ENSP00000265372	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000345491	Transcript	.	.	ENSG00000095794	2352	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CREM_HUMAN	CREM	HGNC	E9PBM5_HUMAN,E9PB41_HUMAN,C9J5A7_HUMAN,C9J2J0_HUMAN	.	UPI00001BDF4F	SNV	CREM,5_prime_UTR_variant,,ENST00000361599,;CREM,intron_variant,,ENST00000487132,;CREM,intron_variant,,ENST00000429130,;CREM,intron_variant,,ENST00000439705,;CREM,intron_variant,,ENST00000474362,;CREM,intron_variant,,ENST00000374726,;CREM,intron_variant,,ENST00000479070,;CREM,intron_variant,,ENST00000374728,;CREM,intron_variant,,ENST00000345491,;CREM,intron_variant,,ENST00000374721,;CREM,intron_variant,,ENST00000337656,;CREM,intron_variant,,ENST00000333809,;CREM,intron_variant,,ENST00000460270,;CREM,intron_variant,,ENST00000427847,;CREM,intron_variant,,ENST00000374734,;CREM,intron_variant,,ENST00000348787,;CREM,intron_variant,,ENST00000354759,;CREM,intron_variant,,ENST00000395895,;CREM,intron_variant,,ENST00000489321,;CREM,upstream_gene_variant,,ENST00000484283,;CREM,upstream_gene_variant,,ENST00000395887,;CREM,non_coding_transcript_exon_variant,,ENST00000497686,;CREM,intron_variant,,ENST00000461968,;CREM,intron_variant,,ENST00000496019,;CREM,intron_variant,,ENST00000489388,;CREM,intron_variant,,ENST00000466251,;CREM,intron_variant,,ENST00000482633,;CREM,intron_variant,,ENST00000464475,;CREM,intron_variant,,ENST00000495960,;CREM,intron_variant,,ENST00000490460,;	.	33	19	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37447483	37447483	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	112	251	0	ENST00000361713.1:c.1701A>G	p.Leu567=	p.L567=	ENST00000361713	NM_052997.2	567	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS7193.1	1701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTAGAATT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11	.	.	ENSP00000354432	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,synonymous_variant,p.%3D,ENST00000374660,;ANKRD30A,synonymous_variant,p.%3D,ENST00000361713,;ANKRD30A,synonymous_variant,p.%3D,ENST00000602533,;	1800	251	268	SUCCESS
ALOX5	240	.	GRCh37	10	45924153	45924153	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28395872	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	39	127	0	ENST00000374391.2:c.922G>A	p.Ala308Thr	p.A308T	ENST00000374391	NM_000698.3	308	Gct/Act	0	.	T:0	.	T:0.0014	.	A	A/T	protein_coding	YES	CCDS7212.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGCTCCC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:3.10.450.60,Superfamily_domains:SSF48484,Prints_domain:PR00467	T:0	.	ENSP00000363512	T:0	7/14	.	.	.	.	.	.	.	.	rs28395872	7/14	PASS	ENST00000374391	Transcript	.	T:0.0002	ENSG00000012779	435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	T:0	deleterious(0.01)	.	LOX5_HUMAN	ALOX5	HGNC	E5FPY7_HUMAN	.	UPI0000043F84	SNV	ALOX5,missense_variant,p.Ala308Thr,ENST00000374391,;ALOX5,missense_variant,p.Ala308Thr,ENST00000542434,;ALOX5,downstream_gene_variant,,ENST00000483623,;	975	127	119	SUCCESS
NPY4R	5540	.	GRCh37	10	47087814	47087814	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs555663093	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	19	209	0	ENST00000374312.1:c.1036del	p.Leu346TrpfsTer21	p.L346Wfs*21	ENST00000374312	NM_005972.5	344	gCc/gc	0	-:0.0174	-:0.0091	.	-:0.0029	.	-	A/X	protein_coding	YES	CCDS31193.1	1031	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGCGCCCCCC	NONE	byFrequency|byCluster|by1000G	.	Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	-:0	-:0.0126	ENSP00000363431	-:0	3/3	.	.	.	.	.	.	.	.	rs555663093,rs782316209	3/3	common_in_exac	ENST00000374312	Transcript	.	-:0.0028	ENSG00000204174	9329	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	-:0	.	.	NPY4R_HUMAN	NPY4R	HGNC	.	.	UPI0000050415	deletion	NPY4R,frameshift_variant,p.Leu346TrpfsTer21,ENST00000395716,;NPY4R,frameshift_variant,p.Leu346TrpfsTer21,ENST00000374312,;LINC00842,intron_variant,,ENST00000503031,;	1450	209	231	SUCCESS
RBP3	5949	.	GRCh37	10	48388542	48388542	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	108	0	ENST00000224600.4:c.2336T>C	p.Val779Ala	p.V779A	ENST00000224600	NM_002900.2	779	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS7218.1	2336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCACCAGC	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.Val779Ala,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	2450	108	98	SUCCESS
GDF2	2658	.	GRCh37	10	48414329	48414329	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	77	0	ENST00000249598.1:c.539A>G	p.Asp180Gly	p.D180G	ENST00000249598	NM_016204.1	180	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7219.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATCTGTT	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Pfam_domain:PF00688	.	.	ENSP00000249598	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.21)	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,missense_variant,p.Asp180Gly,ENST00000249598,;	699	77	89	SUCCESS
GDF10	2662	.	GRCh37	10	48438891	48438891	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	19	0	ENST00000224605.2:c.-181C>T		p.*61*	ENST00000224605	NM_004962.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGGTCCG	NONE	.	.	.	.	.	ENSP00000224605	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000224605	Transcript	.	.	ENSG00000107623	4215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP3B_HUMAN	GDF10	HGNC	Q8N6T2_HUMAN	.	UPI0000126A13	SNV	GDF10,5_prime_UTR_variant,,ENST00000224605,;	86	19	22	SUCCESS
MAPK8	5599	.	GRCh37	10	49628362	49628362	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1037196002	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	6	104	0	ENST00000374189.1:c.615C>T		p.X205_splice	ENST00000374189		205	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS7224.1	615	MUTECT|MUSE	.	GAAAACGGTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF162,hmmpanther:PTHR24055,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01772	.	.	ENSP00000363304	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000374189	Transcript	.	.	ENSG00000107643	6881	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MK08_HUMAN	MAPK8	HGNC	C9J762_HUMAN	.	UPI000012F17A	SNV	MAPK8,synonymous_variant,p.%3D,ENST00000374182,;MAPK8,synonymous_variant,p.%3D,ENST00000360332,;MAPK8,synonymous_variant,p.%3D,ENST00000374176,;MAPK8,synonymous_variant,p.%3D,ENST00000395611,;MAPK8,synonymous_variant,p.%3D,ENST00000374179,;MAPK8,synonymous_variant,p.%3D,ENST00000374189,;MAPK8,synonymous_variant,p.%3D,ENST00000374174,;MAPK8,downstream_gene_variant,,ENST00000429041,;MAPK8,upstream_gene_variant,,ENST00000469879,;MAPK8,upstream_gene_variant,,ENST00000469110,;MAPK8,upstream_gene_variant,,ENST00000471272,;	796	104	90	SUCCESS
CHAT	1103	.	GRCh37	10	50854625	50854625	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs536359684	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	68	136	0	ENST00000337653.2:c.1186G>A	p.Val396Met	p.V396M	ENST00000337653	NM_020549.4	396	Gtg/Atg	0	.	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS7232.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGTGGAG	NONE	by1000G	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589,Pfam_domain:PF00755,Superfamily_domains:SSF52777	A:0	.	ENSP00000337103	A:0	8/15	.	.	.	.	.	.	.	.	rs536359684	8/15	PASS	ENST00000337653	Transcript	1	A:0.0002	ENSG00000070748	1912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	A:0.001	tolerated(0.16)	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,missense_variant,p.Val278Met,ENST00000351556,;CHAT,missense_variant,p.Val314Met,ENST00000395562,;CHAT,missense_variant,p.Val278Met,ENST00000395559,;CHAT,missense_variant,p.Val278Met,ENST00000339797,;CHAT,missense_variant,p.Val278Met,ENST00000455728,;CHAT,missense_variant,p.Val396Met,ENST00000337653,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	1339	136	146	SUCCESS
A1CF	29974	.	GRCh37	10	52587939	52587939	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759025898	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	54	0	ENST00000373993.1:c.721T>C	p.Ser241Pro	p.S241P	ENST00000373993		241	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS7243.1	745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGACAGCA	NONE	byFrequency	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,TIGRFAM_domain:TIGR01648,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000363107	.	7/13	.	.	.	.	.	.	.	.	rs759025898	7/13	PASS	ENST00000373995	Transcript	.	.	ENSG00000148584	24086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.08)	.	A1CF_HUMAN	A1CF	HGNC	.	.	UPI000013DB32	SNV	A1CF,missense_variant,p.Ser241Pro,ENST00000373993,;A1CF,missense_variant,p.Ser241Pro,ENST00000282641,;A1CF,missense_variant,p.Ser241Pro,ENST00000374001,;A1CF,missense_variant,p.Ser249Pro,ENST00000373995,;A1CF,missense_variant,p.Ser241Pro,ENST00000373997,;A1CF,missense_variant,p.Ser234Pro,ENST00000395489,;A1CF,intron_variant,,ENST00000395495,;RP11-449O16.2,upstream_gene_variant,,ENST00000438919,;A1CF,non_coding_transcript_exon_variant,,ENST00000473480,;A1CF,non_coding_transcript_exon_variant,,ENST00000493415,;	1004	54	59	SUCCESS
CSTF2T	23283	.	GRCh37	10	53458564	53458564	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	82	0	ENST00000331173.4:c.746A>T	p.Asp249Val	p.D249V	ENST00000331173	NM_015235.2	249	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS7245.1	746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTCCTTC	NONE	.	.	hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF55	.	.	ENSP00000332444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331173	Transcript	.	.	ENSG00000177613	17086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CSTFT_HUMAN	CSTF2T	HGNC	.	.	UPI0000073CA9	SNV	CSTF2T,missense_variant,p.Asp249Val,ENST00000331173,;PRKG1,intron_variant,,ENST00000373976,;PRKG1,intron_variant,,ENST00000401604,;PRKG1,intron_variant,,ENST00000373985,;PRKG1,intron_variant,,ENST00000373980,;	792	82	62	SUCCESS
GDI2	2665	.	GRCh37	10	5827986	5827986	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376781352	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	57	0	ENST00000380191.4:c.416G>A	p.Arg139His	p.R139H	ENST00000380191	NM_001494.3	139	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7071.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCGACGT	NONE	byCluster	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF1,Gene3D:1.10.405.10,Pfam_domain:PF00996,Superfamily_domains:SSF51905,Prints_domain:PR00892,Prints_domain:PR00891	.	T:0.0001	ENSP00000369538	.	5/11	.	.	.	.	.	.	.	.	rs376781352	5/11	PASS	ENST00000380191	Transcript	.	.	ENSG00000057608	4227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	deleterious(0)	.	GDIB_HUMAN	GDI2	HGNC	Q6IAT1_HUMAN,B3KVE3_HUMAN	.	UPI000012B39E	SNV	GDI2,missense_variant,p.Arg129His,ENST00000456041,;GDI2,missense_variant,p.Arg143His,ENST00000380132,;GDI2,missense_variant,p.Arg139His,ENST00000380191,;GDI2,missense_variant,p.Arg117His,ENST00000608581,;GDI2,missense_variant,p.Arg94His,ENST00000380181,;GDI2,missense_variant,p.Arg103His,ENST00000418688,;GDI2,missense_variant,p.Arg143His,ENST00000380127,;GDI2,upstream_gene_variant,,ENST00000447751,;	707	57	34	SUCCESS
SIRT1	23411	.	GRCh37	10	69672422	69672422	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	69	171	0	ENST00000212015.6:c.1549A>G	p.Thr517Ala	p.T517A	ENST00000212015	NM_012238.4	517	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS7273.1	1549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGAACACAA	NONE	.	.	hmmpanther:PTHR11085:SF15,hmmpanther:PTHR11085	.	.	ENSP00000212015	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000212015	Transcript	.	.	ENSG00000096717	14929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.74)	.	SIR1_HUMAN	SIRT1	HGNC	E9PC49_HUMAN,A8K128_HUMAN	.	UPI0000073E1A	SNV	SIRT1,missense_variant,p.Thr222Ala,ENST00000432464,;SIRT1,missense_variant,p.Thr214Ala,ENST00000403579,;SIRT1,missense_variant,p.Thr517Ala,ENST00000212015,;SIRT1,missense_variant,p.Thr214Ala,ENST00000406900,;	1602	171	164	SUCCESS
DDX50	79009	.	GRCh37	10	70673927	70673927	+	synonymous_variant	Silent	SNP	A	A	G	rs143250243	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	95	238	0	ENST00000373585.3:c.1056A>G	p.Gly352=	p.G352=	ENST00000373585	NM_024045.1	352	ggA/ggG	0	G:0.0005	G:0.0008	.	G:0	.	G	G	protein_coding	YES	CCDS7283.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGAAAAAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	G:0	G:0	ENSP00000362687	G:0	7/15	.	.	.	.	.	.	.	.	rs143250243	7/15	PASS	ENST00000373585	Transcript	.	G:0.0002	ENSG00000107625	17906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,synonymous_variant,p.%3D,ENST00000373585,;RNU6-571P,upstream_gene_variant,,ENST00000384128,;DDX50,non_coding_transcript_exon_variant,,ENST00000460470,;DDX50,downstream_gene_variant,,ENST00000471475,;DDX50,downstream_gene_variant,,ENST00000483593,;	1163	238	249	SUCCESS
SAR1A	56681	.	GRCh37	10	71912317	71912317	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1304678978	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	82	0	ENST00000373238.1:c.512G>A	p.Arg171His	p.R171H	ENST00000373238		171	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS7298.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCGAGCA	NONE	.	.	PROSITE_profiles:PS51422,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF141,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000362339	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000373242	Transcript	.	.	ENSG00000079332	10534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	tolerated(0.06)	.	SAR1A_HUMAN	SAR1A	HGNC	Q5SQT9_HUMAN,B4DQ19_HUMAN	.	UPI0000000DB4	SNV	SAR1A,missense_variant,p.Arg171His,ENST00000373242,;SAR1A,missense_variant,p.Arg88His,ENST00000452767,;SAR1A,missense_variant,p.Arg171His,ENST00000373238,;SAR1A,missense_variant,p.Arg128His,ENST00000458634,;SAR1A,missense_variant,p.Arg171His,ENST00000431664,;SAR1A,missense_variant,p.Arg171His,ENST00000373241,;	709	82	75	SUCCESS
CHST3	9469	.	GRCh37	10	73767711	73767711	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	80	181	0	ENST00000373115.4:c.922G>A	p.Ala308Thr	p.A308T	ENST00000373115	NM_004273.4	308	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7312.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGCCTCG	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF005883,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0.03)	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,missense_variant,p.Ala308Thr,ENST00000373115,;	1359	181	174	SUCCESS
ITIH5	80760	.	GRCh37	10	7608361	7608361	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	76	0	ENST00000256861.6:c.2159T>C	p.Val720Ala	p.V720A	ENST00000256861	NM_030569.6	720	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	.	2159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCACTGTG	NONE	.	.	hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Pfam_domain:PF06668	.	.	ENSP00000256861	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0.02)	.	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Val502Ala,ENST00000446830,;ITIH5,missense_variant,p.Val506Ala,ENST00000298441,;ITIH5,missense_variant,p.Val720Ala,ENST00000256861,;ITIH5,intron_variant,,ENST00000397146,;ITIH5,non_coding_transcript_exon_variant,,ENST00000473591,;ITIH5,downstream_gene_variant,,ENST00000492668,;	2238	76	31	SUCCESS
KAT6B	23522	.	GRCh37	10	76784946	76784949	+	frameshift_variant	Frame_Shift_Del	DEL	ACAA	ACAA	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	ACAA	ACAA	.	.	.	.	.	.	.	.	.	.	.	.	.	126	70	261	0	ENST00000287239.4:c.3606_3609del	p.Thr1203ArgfsTer21	p.T1203Rfs*21	ENST00000287239	NM_001256468.1	1201	agACAA/ag	0	.	.	.	.	.	-	RQ/X	protein_coding	YES	CCDS7345.1	3603-3606	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAAGACAAACAGA	NONE	.	.	hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615	.	.	ENSP00000287239	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	deletion	KAT6B,frameshift_variant,p.Thr911ArgfsTer21,ENST00000372714,;KAT6B,frameshift_variant,p.Thr911ArgfsTer21,ENST00000372725,;KAT6B,frameshift_variant,p.Thr911ArgfsTer21,ENST00000372724,;KAT6B,frameshift_variant,p.Thr1203ArgfsTer21,ENST00000287239,;KAT6B,frameshift_variant,p.Thr1020ArgfsTer21,ENST00000372711,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;RP11-77G23.5,upstream_gene_variant,,ENST00000436608,;KAT6B,non_coding_transcript_exon_variant,,ENST00000490365,;	4092-4095	261	196	SUCCESS
DUPD1	0	.	GRCh37	10	76797815	76797815	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs190150687	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	46	1	ENST00000338487.5:c.442G>A	p.Val148Ile	p.V148I	ENST00000338487	NM_001003892.1	148	Gtc/Atc	0	.	T:0	.	T:0.0014	.	T	V/I	protein_coding	YES	CCDS31223.1	442	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACGCAGT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF114,PROSITE_patterns:PS00383,Pfam_domain:PF00782,Gene3D:3.90.190.10,SMART_domains:SM00195,Superfamily_domains:SSF52799	T:0	.	ENSP00000340609	T:0	3/3	.	.	.	.	.	.	.	.	rs190150687,COSM427945	3/3	PASS	ENST00000338487	Transcript	.	T:0.0002	ENSG00000188716	23481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.145)	T:0	deleterious(0)	0,1	DUPD1_HUMAN	DUPD1	HGNC	.	.	UPI000003E897	SNV	DUPD1,missense_variant,p.Val148Ile,ENST00000338487,;	442	47	42	SUCCESS
ZNF503	84858	.	GRCh37	10	77159849	77159849	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs750863862	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	52	0	ENST00000372524.4:c.599del	p.Gly200AlafsTer95	p.G200Afs*95	ENST00000372524	NM_032772.4	200	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS7350.1	599	VARSCANI*|PINDEL	.	CCGCCGCCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12522,hmmpanther:PTHR12522:SF3	.	.	ENSP00000361602	.	2/2	.	.	.	.	.	.	.	.	rs750863862	2/2	PASS	ENST00000372524	Transcript	.	.	ENSG00000165655	23589	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN503_HUMAN	ZNF503	HGNC	B3KXM8_HUMAN	.	UPI000004A951	deletion	ZNF503,frameshift_variant,p.Gly200AlafsTer95,ENST00000535216,;ZNF503,frameshift_variant,p.Gly200AlafsTer95,ENST00000372524,;RP11-399K21.11,intron_variant,,ENST00000418818,;ZNF503-AS2,upstream_gene_variant,,ENST00000466942,;ZNF503-AS2,upstream_gene_variant,,ENST00000425916,;ZNF503-AS2,upstream_gene_variant,,ENST00000486015,;ZNF503-AS2,upstream_gene_variant,,ENST00000438638,;ZNF503-AS2,upstream_gene_variant,,ENST00000527641,;ZNF503-AS2,upstream_gene_variant,,ENST00000484411,;ZNF503-AS2,upstream_gene_variant,,ENST00000491557,;	1086	52	74	SUCCESS
ZMIZ1	57178	.	GRCh37	10	81065903	81065903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	49	0	ENST00000334512.5:c.2470C>T	p.Pro824Ser	p.P824S	ENST00000334512	NM_020338.3	824	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7357.1	2470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCCGGTG	NONE	.	.	hmmpanther:PTHR10782:SF7,hmmpanther:PTHR10782	.	.	ENSP00000334474	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000334512	Transcript	.	.	ENSG00000108175	16493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	ZMIZ1_HUMAN	ZMIZ1	HGNC	A0PJD4_HUMAN	.	UPI0000161744	SNV	ZMIZ1,missense_variant,p.Pro824Ser,ENST00000334512,;ZMIZ1,upstream_gene_variant,,ENST00000446377,;	3042	49	38	SUCCESS
WAPAL	0	.	GRCh37	10	88197700	88197700	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	263	121	460	0	ENST00000298767.5:c.3484T>A	p.Phe1162Ile	p.F1162I	ENST00000298767	NM_015045.2	1162	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS7375.1	3484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAATTTTT	NONE	.	.	PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100	.	.	ENSP00000298767	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,missense_variant,p.Phe1162Ile,ENST00000298767,;WAPAL,missense_variant,p.Phe374Ile,ENST00000372075,;WAPAL,missense_variant,p.Phe374Ile,ENST00000263070,;WAPAL,non_coding_transcript_exon_variant,,ENST00000484070,;	3957	460	384	SUCCESS
IFIT1	3434	.	GRCh37	10	91152426	91152426	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs754080671	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	87	0	ENST00000371804.3:c.-44G>A		p.*15*	ENST00000371804	NM_001270927.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31243.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGCTAAG	NONE	.	.	.	.	.	ENSP00000360869	.	1/2	.	.	.	.	.	.	.	.	rs754080671	1/2	PASS	ENST00000371804	Transcript	.	.	ENSG00000185745	5407	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFIT1_HUMAN	IFIT1	HGNC	D3DR31_HUMAN	.	UPI0000169E8F	SNV	IFIT1,5_prime_UTR_variant,,ENST00000371804,;LIPA,intron_variant,,ENST00000371837,;	124	87	70	SUCCESS
PANK1	53354	.	GRCh37	10	91371568	91371568	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	46	127	0	ENST00000307534.4:c.941G>T	p.Ser314Ile	p.S314I	ENST00000307534	NM_148977.2	314	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS31244.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCTGGGA	NONE	.	.	hmmpanther:PTHR12280,hmmpanther:PTHR12280:SF23,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067	.	.	ENSP00000302108	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000307534	Transcript	.	.	ENSG00000152782	8598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0.01)	.	PANK1_HUMAN	PANK1	HGNC	.	.	UPI0000131D49	SNV	PANK1,missense_variant,p.Ser116Ile,ENST00000371774,;PANK1,missense_variant,p.Ser89Ile,ENST00000342512,;PANK1,missense_variant,p.Ser89Ile,ENST00000322191,;PANK1,missense_variant,p.Ser314Ile,ENST00000307534,;PANK1,non_coding_transcript_exon_variant,,ENST00000461829,;	1097	127	119	SUCCESS
PANK1	53354	.	GRCh37	10	91403637	91403637	+	intron_variant	Intron	SNP	A	A	G	rs546501995	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	27	0	ENST00000307534.4:c.703+720T>C		p.*235*	ENST00000307534	NM_148977.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31244.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAATGCAC	NONE	.	.	.	.	.	ENSP00000302108	.	.	.	.	.	.	.	.	.	.	rs546501995	.	PASS	ENST00000307534	Transcript	.	.	ENSG00000152782	8598	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PANK1_HUMAN	PANK1	HGNC	.	.	UPI0000131D49	SNV	PANK1,5_prime_UTR_variant,,ENST00000371774,;PANK1,5_prime_UTR_variant,,ENST00000342512,;PANK1,intron_variant,,ENST00000307534,;PANK1,upstream_gene_variant,,ENST00000322191,;RP11-80H5.6,downstream_gene_variant,,ENST00000428166,;RP11-80H5.2,upstream_gene_variant,,ENST00000454174,;RP11-80H5.2,upstream_gene_variant,,ENST00000451733,;PANK1,non_coding_transcript_exon_variant,,ENST00000488482,;RP11-80H5.5,downstream_gene_variant,,ENST00000507624,;	.	27	34	SUCCESS
KIF20B	9585	.	GRCh37	10	91520371	91520371	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	91	289	0	ENST00000371728.3:c.4769A>T	p.Glu1590Val	p.E1590V	ENST00000371728	NM_001284259.1	1590	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7407.1	4649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGAAATTT	NONE	.	.	hmmpanther:PTHR23165	.	.	ENSP00000260753	.	28/33	.	.	.	.	.	.	.	.	.	28/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious(0.01)	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,missense_variant,p.Glu1590Val,ENST00000371728,;KIF20B,missense_variant,p.Glu1620Val,ENST00000416354,;KIF20B,missense_variant,p.Glu1550Val,ENST00000260753,;KIF20B,missense_variant,p.Glu1590Val,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	4721	289	241	SUCCESS
ANKRD1	27063	.	GRCh37	10	92675939	92675939	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758588912	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	101	0	ENST00000371697.3:c.640G>A	p.Ala214Thr	p.A214T	ENST00000371697	NM_014391.2	214	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7412.1	640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGCGCTAA	BUFFER|p.R215Q|c.644G>A|3	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24126,hmmpanther:PTHR24126:SF7,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000360762	.	6/9	.	.	.	.	.	.	.	.	rs758588912	6/9	PASS	ENST00000371697	Transcript	1	.	ENSG00000148677	15819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.11)	.	ANKR1_HUMAN	ANKRD1	HGNC	.	.	UPI00000735C1	SNV	ANKRD1,missense_variant,p.Ala214Thr,ENST00000371697,;	889	101	68	SUCCESS
MARCH5	0	.	GRCh37	10	94050978	94050978	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	18	0	ENST00000358935.2:c.-274A>T		p.*92*	ENST00000358935	NM_017824.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7420.1	.	MUTECT|MUSE	.	CATGGACCGGA	NONE	.	.	.	.	.	ENSP00000351813	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000358935	Transcript	.	.	ENSG00000198060	26025	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MARH5_HUMAN	MARCH5	HGNC	B4DGV8_HUMAN	.	UPI000006D0BC	SNV	MARCH5,5_prime_UTR_variant,,ENST00000358935,;CPEB3,upstream_gene_variant,,ENST00000265997,;	59	18	13	SUCCESS
NOC3L	64318	.	GRCh37	10	96117098	96117098	+	intron_variant	Intron	DEL	A	A	-	rs753480410	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	43	0	ENST00000371361.3:c.351-10del		p.*117*	ENST00000371361	NM_022451.9			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7433.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGGGAAAAAA	NONE	byFrequency	.	.	.	.	ENSP00000360412	.	.	.	.	.	.	.	.	.	.	rs753480410,rs757844785	.	PASS	ENST00000371361	Transcript	.	.	ENSG00000173145	24034	.	.	MODIFIER	3/20	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOC3L_HUMAN	NOC3L	HGNC	.	.	UPI000006DE09	deletion	NOC3L,intron_variant,,ENST00000371361,;NOC3L,intron_variant,,ENST00000371350,;NOC3L,upstream_gene_variant,,ENST00000543788,;NOC3L,non_coding_transcript_exon_variant,,ENST00000463649,;NOC3L,downstream_gene_variant,,ENST00000461562,;	.	43	71	SUCCESS
CYP2C18	1562	.	GRCh37	10	96443560	96443564	+	5_prime_UTR_variant	5'UTR	DEL	AAGAA	AAGAA	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	AAGAA	AAGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	72	0	ENST00000285979.6:c.-17_-13del		p.*6*	ENST00000285979	NM_000772.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7435.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTACTAAGAAGAGAA	NONE	.	.	.	.	.	ENSP00000285979	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000285979	Transcript	.	.	ENSG00000108242	2620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP2CI_HUMAN	CYP2C18	HGNC	Q16750_HUMAN	.	UPI000013DE1D	deletion	CYP2C18,5_prime_UTR_variant,,ENST00000339022,;CYP2C18,5_prime_UTR_variant,,ENST00000285979,;CYP2C19,upstream_gene_variant,,ENST00000464755,;	183-187	72	65	SUCCESS
RRP12	23223	.	GRCh37	10	99131898	99131898	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	68	0	ENST00000370992.4:c.2275G>C	p.Ala759Pro	p.A759P	ENST00000370992	NM_015179.3	759	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7457.1	2275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCCACGA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR21576:SF2,hmmpanther:PTHR21576	.	.	ENSP00000360031	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000370992	Transcript	.	.	ENSG00000052749	29100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.01)	.	RRP12_HUMAN	RRP12	HGNC	.	.	UPI000013E51C	SNV	RRP12,missense_variant,p.Ala477Pro,ENST00000536831,;RRP12,missense_variant,p.Ala698Pro,ENST00000414986,;RRP12,missense_variant,p.Ala659Pro,ENST00000315563,;RRP12,missense_variant,p.Ala759Pro,ENST00000370992,;RRP12,non_coding_transcript_exon_variant,,ENST00000479481,;RRP12,upstream_gene_variant,,ENST00000491313,;RRP12,downstream_gene_variant,,ENST00000490815,;	2387	68	70	SUCCESS
MUC6	4588	.	GRCh37	11	1015776	1015776	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779736305	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	70	129	0	ENST00000421673.2:c.7025C>T	p.Thr2342Met	p.T2342M	ENST00000421673	NM_005961.2	2342	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS44513.1	7025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGTAGGT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264	.	.	ENSP00000406861	.	31/33	.	.	.	.	.	.	.	.	rs779736305,COSM1215944,COSM1215945	31/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	unknown(0)	.	.	0,1,1	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Thr2342Met,ENST00000421673,;MUC6,missense_variant,p.Thr127Met,ENST00000532016,;AP2A2,downstream_gene_variant,,ENST00000534328,;MUC6,downstream_gene_variant,,ENST00000527242,;AP2A2,downstream_gene_variant,,ENST00000332231,;AP2A2,downstream_gene_variant,,ENST00000448903,;AP2A2,downstream_gene_variant,,ENST00000528815,;AP2A2,downstream_gene_variant,,ENST00000531497,;	7076	129	178	SUCCESS
KIAA1377	0	.	GRCh37	11	101852668	101852668	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1160580381	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	270	213	488	1	ENST00000263468.8:c.3007A>G	p.Thr1003Ala	p.T1003A	ENST00000263468	NM_020802.2	1003	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS31658.1	3007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTACAAGG	NONE	.	.	Pfam_domain:PF15352,hmmpanther:PTHR31191	.	.	ENSP00000263468	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.716)	.	tolerated(0.08)	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,missense_variant,p.Thr804Ala,ENST00000537689,;KIAA1377,missense_variant,p.Thr1003Ala,ENST00000263468,;KIAA1377,missense_variant,p.Thr37Ala,ENST00000532077,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	3277	490	483	SUCCESS
MMP20	9313	.	GRCh37	11	102482511	102482511	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	51	0	ENST00000260228.2:c.498T>A	p.Asp166Glu	p.D166E	ENST00000260228	NM_004771.3	166	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS8318.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATATCCGC	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF125,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000260228	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000260228	Transcript	.	.	ENSG00000137674	7167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	MMP20_HUMAN	MMP20	HGNC	.	.	UPI000013D0B3	SNV	MMP20,missense_variant,p.Asp166Glu,ENST00000260228,;RP11-817J15.2,intron_variant,,ENST00000542119,;RP11-817J15.2,downstream_gene_variant,,ENST00000544115,;MMP20,upstream_gene_variant,,ENST00000544938,;	511	51	36	SUCCESS
CWF19L2	143884	.	GRCh37	11	107325228	107325228	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs772257590	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	24	0	ENST00000282251.5:c.287del	p.Lys96ArgfsTer41	p.K96Rfs*41	ENST00000282251	NM_152434.2	96	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS8336.2	287	INDELOCATOR|VARSCANI	.	TTGCTCTTTTTT	SITE|p.K96fs*41|c.287delA|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072	.	.	ENSP00000282251	.	3/18	.	.	.	.	.	.	.	.	rs772257590,COSM1350657	3/18	PASS	ENST00000282251	Transcript	.	.	ENSG00000152404	26508	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	C19L2_HUMAN	CWF19L2	HGNC	Q6PIV4_HUMAN	.	UPI00005A81B4	deletion	CWF19L2,frameshift_variant,p.Lys96ArgfsTer41,ENST00000433523,;CWF19L2,frameshift_variant,p.Lys96ArgfsTer41,ENST00000282251,;	315	24	39	SUCCESS
EXPH5	23086	.	GRCh37	11	108381176	108381176	+	synonymous_variant	Silent	SNP	G	G	A	rs114391005	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	49	111	0	ENST00000265843.4:c.5058C>T	p.His1686=	p.H1686=	ENST00000265843	NM_015065.2	1686	caC/caT	0	A:0	A:0	.	A:0	.	A	H	protein_coding	YES	CCDS8341.1	5058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACGTGTGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR21469	A:0.001	A:0.0001	ENSP00000265843	A:0	6/6	.	.	.	.	.	.	.	.	rs114391005	6/6	PASS	ENST00000265843	Transcript	.	A:0.0002	ENSG00000110723	30578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,synonymous_variant,p.%3D,ENST00000428840,;EXPH5,synonymous_variant,p.%3D,ENST00000443411,;EXPH5,synonymous_variant,p.%3D,ENST00000525344,;EXPH5,synonymous_variant,p.%3D,ENST00000526312,;EXPH5,synonymous_variant,p.%3D,ENST00000265843,;EXPH5,downstream_gene_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;	5169	111	109	SUCCESS
RDX	5962	.	GRCh37	11	110104137	110104137	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	83	0	ENST00000343115.4:c.1412del	p.Pro471LeufsTer35	p.P471Lfs*35	ENST00000343115	NM_001260494.1	471	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS58174.1	1412	VARSCANI*|PINDEL	.	GGTGGAGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23281,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305	.	.	ENSP00000384136	.	13/16	.	.	.	.	.	.	.	.	COSM1351171	13/16	PASS	ENST00000405097	Transcript	.	.	ENSG00000137710	9944	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	RADI_HUMAN	RDX	HGNC	Q9NST9_HUMAN,E9PQ82_HUMAN,E9PNV3_HUMAN,E9PKN5_HUMAN,B0YJ88_HUMAN	.	UPI0000EE3914	deletion	RDX,frameshift_variant,p.Pro471LeufsTer35,ENST00000343115,;RDX,frameshift_variant,p.Pro335LeufsTer35,ENST00000544551,;RDX,frameshift_variant,p.Pro141LeufsTer35,ENST00000530085,;RDX,frameshift_variant,p.Pro124LeufsTer35,ENST00000528900,;RDX,frameshift_variant,p.Pro471LeufsTer35,ENST00000528498,;RDX,frameshift_variant,p.Pro471LeufsTer35,ENST00000405097,;RDX,intron_variant,,ENST00000530301,;RDX,frameshift_variant,p.Pro471LeufsTer35,ENST00000530749,;RDX,3_prime_UTR_variant,,ENST00000530131,;RDX,non_coding_transcript_exon_variant,,ENST00000527537,;RDX,non_coding_transcript_exon_variant,,ENST00000532461,;RDX,non_coding_transcript_exon_variant,,ENST00000533961,;	1722	83	101	SUCCESS
POU2AF1	5450	.	GRCh37	11	111225251	111225251	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	106	0	ENST00000393067.3:c.506A>G	p.Glu169Gly	p.E169G	ENST00000393067	NM_006235.2	169	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS31675.1	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTCTGGG	NONE	.	.	hmmpanther:PTHR15363:SF3,hmmpanther:PTHR15363,Pfam_domain:PF09310	.	.	ENSP00000376786	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000393067	Transcript	.	.	ENSG00000110777	9211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	OBF1_HUMAN	POU2AF1	HGNC	.	.	UPI000011D77C	SNV	POU2AF1,missense_variant,p.Glu169Gly,ENST00000393067,;POU2AF1,downstream_gene_variant,,ENST00000531398,;POU2AF1,downstream_gene_variant,,ENST00000530793,;POU2AF1,downstream_gene_variant,,ENST00000525584,;POU2AF1,downstream_gene_variant,,ENST00000525662,;	1021	106	117	SUCCESS
ZW10	9183	.	GRCh37	11	113609090	113609090	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775507451	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	76	0	ENST00000200135.3:c.1780C>T	p.Arg594Trp	p.R594W	ENST00000200135	NM_004724.3	594	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8363.1	1780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGCATTT	NONE	byFrequency	.	hmmpanther:PTHR12205:SF0,hmmpanther:PTHR12205,Pfam_domain:PF06248	.	.	ENSP00000200135	.	13/16	.	.	.	.	.	.	.	.	rs775507451	13/16	PASS	ENST00000200135	Transcript	.	.	ENSG00000086827	13194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	deleterious(0)	.	ZW10_HUMAN	ZW10	HGNC	B4E1J7_HUMAN,A1A528_HUMAN	.	UPI000013C491	SNV	ZW10,missense_variant,p.Arg594Trp,ENST00000200135,;ZW10,missense_variant,p.Arg594Trp,ENST00000535142,;	1925	76	66	SUCCESS
KMT2A	4297	.	GRCh37	11	118377321	118377321	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	74	137	0	ENST00000534358.1:c.10714A>G	p.Ile3572Val	p.I3572V	ENST00000534358	NM_005933.3	3572	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55791.1	10714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACATTCCA	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,missense_variant,p.Ile3569Val,ENST00000389506,;KMT2A,missense_variant,p.Ile3531Val,ENST00000354520,;KMT2A,missense_variant,p.Ile3572Val,ENST00000534358,;KMT2A,non_coding_transcript_exon_variant,,ENST00000534085,;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534678,;	10737	137	171	SUCCESS
BCL9L	283149	.	GRCh37	11	118779169	118779169	+	synonymous_variant	Silent	SNP	G	G	A	rs746068366	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	104	0	ENST00000334801.3:c.222C>T	p.Gly74=	p.G74=	ENST00000334801	NM_182557.2	74	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8403.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGCCCTT	NONE	byFrequency	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3	.	.	ENSP00000335320	.	2/8	.	.	.	.	.	.	.	.	rs746068366	2/8	PASS	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,synonymous_variant,p.%3D,ENST00000334801,;BCL9L,synonymous_variant,p.%3D,ENST00000532899,;MIR4492,upstream_gene_variant,,ENST00000581627,;BCL9L,non_coding_transcript_exon_variant,,ENST00000527266,;BCL9L,non_coding_transcript_exon_variant,,ENST00000526514,;BCL9L,non_coding_transcript_exon_variant,,ENST00000526143,;BCL9L,intron_variant,,ENST00000530293,;	1187	104	90	SUCCESS
CBL	867	.	GRCh37	11	119169140	119169140	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	63	119	0	ENST00000264033.4:c.2324A>T	p.Asp775Val	p.D775V	ENST00000264033	NM_005188.3	775	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS8418.1	2324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGATGTCC	NONE	.	.	hmmpanther:PTHR23007:SF5,hmmpanther:PTHR23007	.	.	ENSP00000264033	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000264033	Transcript	.	.	ENSG00000110395	1541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious_low_confidence(0)	.	CBL_HUMAN	CBL	HGNC	.	.	UPI000013D4A7	SNV	CBL,missense_variant,p.Asp775Val,ENST00000264033,;	2700	119	139	SUCCESS
TECTA	7007	.	GRCh37	11	121039544	121039544	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	17	168	0	ENST00000264037.2:c.5909C>T	p.Ala1970Val	p.A1970V	ENST00000264037	NM_005422.2	1970	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8434.1	5909	RADIA|MUTECT|MUSE|VARSCANS	.	TGACGCCACAC	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,PROSITE_patterns:PS00682,hmmpanther:PTHR11339,PROSITE_profiles:PS51034	.	.	ENSP00000376543	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.23)	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Ala1970Val,ENST00000264037,;TECTA,missense_variant,p.Ala1970Val,ENST00000392793,;	6180	168	140	SUCCESS
TMEM225	338661	.	GRCh37	11	123754903	123754903	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	41	0	ENST00000375026.2:c.342del	p.Trp115GlyfsTer10	p.W115Gfs*10	ENST00000375026	NM_001013743.1	114	ctC/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS31697.1	342	VARSCANI*|PINDEL	.	TGCCCAGAGCAG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF13903	.	.	ENSP00000364166	.	3/4	.	.	.	.	.	.	.	.	COSM1659066	3/4	PASS	ENST00000375026	Transcript	.	.	ENSG00000204300	32390	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TM225_HUMAN	TMEM225	HGNC	.	.	UPI00003B5C5B	deletion	TMEM225,frameshift_variant,p.Trp115GlyfsTer10,ENST00000375026,;TMEM225,frameshift_variant,p.Trp65GlyfsTer10,ENST00000528595,;	559	41	49	SUCCESS
OR8B4	283162	.	GRCh37	11	124294491	124294491	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	134	0	ENST00000356130.3:c.277T>C	p.Tyr93His	p.Y93H	ENST00000356130	NM_001005196.1	93	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31710.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATAAGAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000348449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356130	Transcript	.	.	ENSG00000198657	8473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated_low_confidence(0.09)	.	OR8B4_HUMAN	OR8B4	HGNC	.	.	UPI00000015B0	SNV	OR8B4,missense_variant,p.Tyr93His,ENST00000356130,;	299	134	128	SUCCESS
SIAE	54414	.	GRCh37	11	124509754	124509754	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	53	0	ENST00000263593.3:c.976G>A	p.Asp326Asn	p.D326N	ENST00000263593		326	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS8449.1	976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCTGAAG	NONE	.	.	Superfamily_domains:SSF52266,Pfam_domain:PF03629,hmmpanther:PTHR22901,Low_complexity_(Seg):seg	.	.	ENSP00000263593	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000263593	Transcript	.	.	ENSG00000110013	18187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.32)	.	SIAE_HUMAN	SIAE	HGNC	.	.	UPI0000073B2D	SNV	SIAE,missense_variant,p.Asp291Asn,ENST00000545756,;SIAE,missense_variant,p.Asp326Asn,ENST00000263593,;RNA5SP352,downstream_gene_variant,,ENST00000363408,;TBRG1,downstream_gene_variant,,ENST00000284290,;	1149	53	60	SUCCESS
HEPACAM	220296	.	GRCh37	11	124791252	124791252	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	87	249	0	ENST00000298251.4:c.1033G>A	p.Ala345Thr	p.A345T	ENST00000298251	NM_152722.4	345	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8456.1	1033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGCGGGAG	NONE	.	.	hmmpanther:PTHR19955:SF104,hmmpanther:PTHR19955	.	.	ENSP00000298251	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000298251	Transcript	.	.	ENSG00000165478	26361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.49)	.	HECAM_HUMAN	HEPACAM	HGNC	.	.	UPI000013E4B5	SNV	HEPACAM,missense_variant,p.Ala345Thr,ENST00000298251,;HEPN1,downstream_gene_variant,,ENST00000408930,;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	1439	249	208	SUCCESS
CHEK1	1111	.	GRCh37	11	125514027	125514027	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761313560	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	60	172	0	ENST00000428830.2:c.965G>A	p.Arg322His	p.R322H	ENST00000428830	NM_001114121.2	322	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8459.1	965	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGCACAG	NONE	byFrequency	.	hmmpanther:PTHR24344	.	.	ENSP00000435371	.	10/13	.	.	.	.	.	.	.	.	rs761313560,COSM1352378	10/13	PASS	ENST00000534070	Transcript	.	.	ENSG00000149554	1925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.302)	.	tolerated(0.16)	0,1	CHK1_HUMAN	CHEK1	HGNC	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN	.	UPI000013DBA3	SNV	CHEK1,missense_variant,p.Arg322His,ENST00000438015,;CHEK1,missense_variant,p.Arg322His,ENST00000544373,;CHEK1,missense_variant,p.Arg322His,ENST00000278916,;CHEK1,missense_variant,p.Arg338His,ENST00000427383,;CHEK1,missense_variant,p.Arg322His,ENST00000534070,;CHEK1,missense_variant,p.Arg322His,ENST00000428830,;CHEK1,missense_variant,p.Arg322His,ENST00000524737,;CHEK1,non_coding_transcript_exon_variant,,ENST00000532449,;CHEK1,upstream_gene_variant,,ENST00000498122,;CHEK1,downstream_gene_variant,,ENST00000528761,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528276,;	1220	172	142	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128936699	128936699	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	84	0	ENST00000310343.9:c.554T>G	p.Leu185Arg	p.L185R	ENST00000310343	NM_001142685.1	185	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS44769.1	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACAGATGA	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9,Gene3D:3.30.1520.10,Pfam_domain:PF00787,Superfamily_domains:SSF64268	.	.	ENSP00000310561	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.22)	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,missense_variant,p.Leu111Arg,ENST00000524655,;ARHGAP32,missense_variant,p.Leu159Arg,ENST00000525234,;ARHGAP32,missense_variant,p.Leu185Arg,ENST00000310343,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;	554	84	87	SUCCESS
NFRKB	4798	.	GRCh37	11	129734929	129734929	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1180321721	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	51	122	0	ENST00000446488.3:c.3706A>G	p.Asn1236Asp	p.N1236D	ENST00000446488	NM_001143835.1	1236	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS8483.1	3781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATTGCCAG	NONE	.	.	hmmpanther:PTHR13052	.	.	ENSP00000436926	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.79)	.	deleterious_low_confidence(0)	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	SNV	NFRKB,missense_variant,p.Asn1261Asp,ENST00000524794,;NFRKB,missense_variant,p.Asn1236Asp,ENST00000446488,;NFRKB,missense_variant,p.Asn1236Asp,ENST00000524746,;NFRKB,missense_variant,p.Asn1236Asp,ENST00000304521,;	3902	122	117	SUCCESS
SNX19	399979	.	GRCh37	11	130784447	130784447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1160487867	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	82	0	ENST00000265909.4:c.1388C>T	p.Ala463Val	p.A463V	ENST00000265909	NM_014758.2	463	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31721.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGCGGTA	NONE	.	.	hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27	.	.	ENSP00000265909	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.22)	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,missense_variant,p.Ala463Val,ENST00000533214,;SNX19,missense_variant,p.Ala463Val,ENST00000265909,;SNX19,intron_variant,,ENST00000528555,;SNX19,intron_variant,,ENST00000539184,;SNX19,intron_variant,,ENST00000530356,;SNX19,upstream_gene_variant,,ENST00000545537,;SNX19,intron_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,intron_variant,,ENST00000531608,;	1958	82	79	SUCCESS
IGSF9B	22997	.	GRCh37	11	133814238	133814238	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	92	0	ENST00000321016.8:c.286G>A	p.Ala96Thr	p.A96T	ENST00000321016		96	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS61010.1	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCCTTAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000436552	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.544)	.	tolerated(0.1)	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Ala143Thr,ENST00000526663,;IGSF9B,missense_variant,p.Ala86Thr,ENST00000533160,;IGSF9B,missense_variant,p.Ala96Thr,ENST00000533871,;IGSF9B,missense_variant,p.Ala96Thr,ENST00000321016,;	517	92	56	SUCCESS
SPON1	10418	.	GRCh37	11	14264943	14264943	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	93	0	ENST00000310358.7:n.1425+1G>A		p.X475_splice	ENST00000310358		475		0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTGTAAGT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310358	Transcript	.	.	ENSG00000152268	11252	.	.	HIGH	8/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPON1	HGNC	.	.	.	SNV	SPON1,splice_donor_variant,,ENST00000533633,;SPON1,splice_donor_variant,,ENST00000310358,;	.	93	51	SUCCESS
NAV2	89797	.	GRCh37	11	20119177	20119177	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770741708	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	115	0	ENST00000396087.3:c.6244G>A	p.Val2082Ile	p.V2082I	ENST00000396087	NM_001244963.1	2082	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS58126.1	6244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGTTCTT	NONE	byFrequency	.	hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	34/41	.	.	.	.	.	.	.	.	rs770741708	34/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(1)	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,missense_variant,p.Val2026Ile,ENST00000396085,;NAV2,missense_variant,p.Val1959Ile,ENST00000360655,;NAV2,missense_variant,p.Val1087Ile,ENST00000533917,;NAV2,missense_variant,p.Val2013Ile,ENST00000540292,;NAV2,missense_variant,p.Val2011Ile,ENST00000527559,;NAV2,missense_variant,p.Val2023Ile,ENST00000349880,;NAV2,missense_variant,p.Val1087Ile,ENST00000311043,;NAV2,missense_variant,p.Val2082Ile,ENST00000396087,;	6343	115	88	SUCCESS
NELL1	4745	.	GRCh37	11	21135203	21135203	+	synonymous_variant	Silent	SNP	T	T	C	rs561468649	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	65	138	0	ENST00000357134.5:c.1369T>C	p.Leu457=	p.L457=	ENST00000357134	NM_201551.1	457	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS7855.1	1369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTTATAT	NONE	byCluster	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000349654	.	13/20	.	.	.	.	.	.	.	.	rs561468649	13/20	PASS	ENST00000357134	Transcript	.	.	ENSG00000165973	7750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELL1_HUMAN	NELL1	HGNC	K9UUD5_HUMAN	.	UPI000013E53D	SNV	NELL1,synonymous_variant,p.%3D,ENST00000325319,;NELL1,synonymous_variant,p.%3D,ENST00000357134,;NELL1,synonymous_variant,p.%3D,ENST00000298925,;NELL1,synonymous_variant,p.%3D,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000530672,;	1521	138	162	SUCCESS
SLC17A6	57084	.	GRCh37	11	22360029	22360029	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	56	204	0	ENST00000263160.3:c.-51C>A		p.*17*	ENST00000263160	NM_020346.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7856.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCTAGCA	NONE	.	.	.	.	.	ENSP00000263160	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,5_prime_UTR_variant,,ENST00000263160,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	387	204	146	SUCCESS
ATHL1	0	.	GRCh37	11	294325	294325	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	64	94	0	ENST00000409548.2:c.1867A>C	p.Ser623Arg	p.S623R	ENST00000409548	NM_025092.4	623	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS31322.2	1867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGAGCGTC	NONE	.	.	hmmpanther:PTHR11051:SF10,hmmpanther:PTHR11051,Gene3D:1h54A03,Superfamily_domains:SSF48208	.	.	ENSP00000387185	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000409548	Transcript	.	.	ENSG00000142102	26210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.53)	.	ATHL1_HUMAN	ATHL1	HGNC	.	.	UPI0000EE80CE	SNV	ATHL1,missense_variant,p.Ser84Arg,ENST00000397660,;ATHL1,missense_variant,p.Ser375Arg,ENST00000409655,;ATHL1,missense_variant,p.Ser650Arg,ENST00000409479,;ATHL1,missense_variant,p.Ser623Arg,ENST00000409548,;IFITM5,downstream_gene_variant,,ENST00000382614,;ATHL1,non_coding_transcript_exon_variant,,ENST00000476372,;ATHL1,non_coding_transcript_exon_variant,,ENST00000474221,;ATHL1,downstream_gene_variant,,ENST00000529087,;ATHL1,downstream_gene_variant,,ENST00000482937,;	1982	94	145	SUCCESS
CARS	0	.	GRCh37	11	3026609	3026612	+	frameshift_variant	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs1427767772	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TCTC	TCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	58	41	107	0	ENST00000380525.4:c.2201_2204del	p.Arg734LysfsTer32	p.R734Kfs*32	ENST00000380525	NM_001194997.1	734	aGAGAa/aa	0	.	.	.	.	.	-	RE/X	protein_coding	YES	CCDS41600.1	2201-2204	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTCTTCTCTCTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10890,hmmpanther:PTHR10890:SF3	.	.	ENSP00000369897	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000380525	Transcript	.	.	ENSG00000110619	1493	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYCC_HUMAN	CARS	HGNC	.	.	UPI00004C4152	deletion	CARS,frameshift_variant,p.Arg651LysfsTer32,ENST00000278224,;CARS,frameshift_variant,p.Arg651LysfsTer32,ENST00000397111,;CARS,frameshift_variant,p.Arg734LysfsTer32,ENST00000380525,;CARS,frameshift_variant,p.Arg641LysfsTer32,ENST00000397114,;CARS,frameshift_variant,p.Arg664LysfsTer32,ENST00000401769,;CARS,non_coding_transcript_exon_variant,,ENST00000470221,;CARS,3_prime_UTR_variant,,ENST00000529772,;CARS,3_prime_UTR_variant,,ENST00000531387,;CARS,non_coding_transcript_exon_variant,,ENST00000484484,;CARS,non_coding_transcript_exon_variant,,ENST00000526890,;CARS,non_coding_transcript_exon_variant,,ENST00000466442,;	2271-2274	107	99	SUCCESS
ARL14EP	120534	.	GRCh37	11	30354502	30354502	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	59	0	ENST00000282032.3:c.516A>G	p.Lys172=	p.K172=	ENST00000282032	NM_152316.1	172	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS7869.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAAGAAG	NONE	.	.	hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF72,Pfam_domain:PF14949	.	.	ENSP00000282032	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000282032	Transcript	.	.	ENSG00000152219	26798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL14E_HUMAN	ARL14EP	HGNC	E9PRK7_HUMAN	.	UPI000000DC5B	SNV	ARL14EP,synonymous_variant,p.%3D,ENST00000282032,;ARL14EP,downstream_gene_variant,,ENST00000530909,;ARL14EP,downstream_gene_variant,,ENST00000533457,;ARL14EP,downstream_gene_variant,,ENST00000532047,;	731	59	80	SUCCESS
MPPED2	744	.	GRCh37	11	30435807	30435807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	116	0	ENST00000358117.5:c.734C>T	p.Pro245Leu	p.P245L	ENST00000358117	NM_001584.2	245	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7870.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGGCCGG	NONE	.	.	hmmpanther:PTHR12905:SF3,hmmpanther:PTHR12905,Pfam_domain:PF00149,Gene3D:3.60.21.10,PIRSF_domain:PIRSF035808,Superfamily_domains:SSF56300	.	.	ENSP00000350833	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000358117	Transcript	.	.	ENSG00000066382	1180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MPPD2_HUMAN	MPPED2	HGNC	F2Z346_HUMAN	.	UPI0000124E87	SNV	MPPED2,missense_variant,p.Pro245Leu,ENST00000448418,;MPPED2,missense_variant,p.Pro245Leu,ENST00000358117,;MPPED2,non_coding_transcript_exon_variant,,ENST00000529220,;MPPED2,non_coding_transcript_exon_variant,,ENST00000524667,;MPPED2,3_prime_UTR_variant,,ENST00000526437,;	857	116	94	SUCCESS
RHOG	391	.	GRCh37	11	3848965	3848965	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs535699358	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	91	0	ENST00000351018.4:c.404C>T	p.Ala135Val	p.A135V	ENST00000351018	NM_001665.3	135	gCg/gTg	0	.	A:0	.	A:0.0014	.	A	A/V	protein_coding	YES	CCDS7748.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGCCTGG	NONE	by1000G	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF150,hmmpanther:PTHR24072,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540	A:0	.	ENSP00000339467	A:0	2/2	.	.	.	.	.	.	.	.	rs535699358	2/2	PASS	ENST00000351018	Transcript	.	A:0.0002	ENSG00000177105	672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	tolerated(0.16)	.	RHOG_HUMAN	RHOG	HGNC	Q6ICQ8_HUMAN	.	UPI00000266CB	SNV	RHOG,missense_variant,p.Ala135Val,ENST00000396978,;RHOG,missense_variant,p.Ala135Val,ENST00000533217,;RHOG,missense_variant,p.Ala135Val,ENST00000351018,;RHOG,missense_variant,p.Ala135Val,ENST00000396979,;PGAP2,downstream_gene_variant,,ENST00000465307,;PGAP2,downstream_gene_variant,,ENST00000459679,;PGAP2,downstream_gene_variant,,ENST00000496834,;PGAP2,downstream_gene_variant,,ENST00000396986,;PGAP2,downstream_gene_variant,,ENST00000463452,;PGAP2,downstream_gene_variant,,ENST00000479072,;PGAP2,downstream_gene_variant,,ENST00000300730,;PGAP2,downstream_gene_variant,,ENST00000464906,;PGAP2,downstream_gene_variant,,ENST00000464261,;PGAP2,downstream_gene_variant,,ENST00000532523,;PGAP2,downstream_gene_variant,,ENST00000396991,;PGAP2,downstream_gene_variant,,ENST00000464441,;PGAP2,downstream_gene_variant,,ENST00000278243,;PGAP2,downstream_gene_variant,,ENST00000396993,;PGAP2,downstream_gene_variant,,ENST00000532535,;PGAP2,downstream_gene_variant,,ENST00000493547,;PGAP2,downstream_gene_variant,,ENST00000469307,;PGAP2,downstream_gene_variant,,ENST00000489571,;PGAP2,downstream_gene_variant,,ENST00000532017,;PGAP2,downstream_gene_variant,,ENST00000495026,;PGAP2,downstream_gene_variant,,ENST00000485602,;PGAP2,downstream_gene_variant,,ENST00000487112,;PGAP2,downstream_gene_variant,,ENST00000528526,;PGAP2,downstream_gene_variant,,ENST00000529944,;PGAP2,downstream_gene_variant,,ENST00000465237,;PGAP2,downstream_gene_variant,,ENST00000525937,;PGAP2,downstream_gene_variant,,ENST00000478773,;PGAP2,downstream_gene_variant,,ENST00000527810,;PGAP2,downstream_gene_variant,,ENST00000524661,;PGAP2,downstream_gene_variant,,ENST00000475884,;PGAP2,downstream_gene_variant,,ENST00000483829,;PGAP2,downstream_gene_variant,,ENST00000464590,;PGAP2,downstream_gene_variant,,ENST00000528216,;PGAP2,downstream_gene_variant,,ENST00000492246,;PGAP2,downstream_gene_variant,,ENST00000490830,;PGAP2,downstream_gene_variant,,ENST00000464229,;PGAP2,downstream_gene_variant,,ENST00000477358,;PGAP2,downstream_gene_variant,,ENST00000534498,;	562	91	61	SUCCESS
PRDM11	56981	.	GRCh37	11	45241211	45241211	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	82	0	ENST00000530656.1:c.747C>T	p.Ile249=	p.I249=	ENST00000530656		249	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS58130.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCCGGCC	NONE	.	.	Superfamily_domains:SSF82199,Gene3D:2.170.270.10,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF3,PROSITE_profiles:PS50280	.	.	ENSP00000394314	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000424263	Transcript	.	.	ENSG00000019485	13996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD11_HUMAN	PRDM11	HGNC	E9PJ09_HUMAN	.	UPI000013FA3F	SNV	PRDM11,synonymous_variant,p.%3D,ENST00000530656,;PRDM11,synonymous_variant,p.%3D,ENST00000263765,;PRDM11,synonymous_variant,p.%3D,ENST00000424263,;PRDM11,downstream_gene_variant,,ENST00000534751,;CTD-2560E9.3,intron_variant,,ENST00000527450,;PRDM11,non_coding_transcript_exon_variant,,ENST00000528980,;	890	82	71	SUCCESS
GYLTL1B	0	.	GRCh37	11	45944631	45944631	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	45	0	ENST00000325468.5:c.198C>T	p.Ala66=	p.A66=	ENST00000325468		66	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31473.1	198	MUTECT|MUSE	.	GCCGCCGCCCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000432869	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000531526	Transcript	.	.	ENSG00000165905	16522	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LARG2_HUMAN	GYLTL1B	HGNC	.	.	UPI000004B639	SNV	GYLTL1B,synonymous_variant,p.%3D,ENST00000325468,;GYLTL1B,synonymous_variant,p.%3D,ENST00000531526,;GYLTL1B,synonymous_variant,p.%3D,ENST00000536139,;GYLTL1B,synonymous_variant,p.%3D,ENST00000529052,;GYLTL1B,synonymous_variant,p.%3D,ENST00000401752,;GYLTL1B,5_prime_UTR_variant,,ENST00000389968,;GYLTL1B,upstream_gene_variant,,ENST00000534410,;GYLTL1B,upstream_gene_variant,,ENST00000531847,;PEX16,upstream_gene_variant,,ENST00000532681,;GYLTL1B,upstream_gene_variant,,ENST00000528236,;GYLTL1B,upstream_gene_variant,,ENST00000414027,;GYLTL1B,upstream_gene_variant,,ENST00000525609,;PEX16,upstream_gene_variant,,ENST00000528674,;GYLTL1B,upstream_gene_variant,,ENST00000530437,;	309	45	27	SUCCESS
DDB2	1643	.	GRCh37	11	47238524	47238524	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1309579140	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	10	147	0	ENST00000256996.4:c.380T>C	p.Val127Ala	p.V127A	ENST00000256996	NM_000107.2	127	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7927.1	380	MUTECT|MUSE	.	CACTGTGGCTG	NONE	.	.	hmmpanther:PTHR15169:SF0,hmmpanther:PTHR15169,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000256996	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000256996	Transcript	.	.	ENSG00000134574	2718	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.332)	.	deleterious(0)	.	DDB2_HUMAN	DDB2	HGNC	.	.	UPI000000D90C	SNV	DDB2,missense_variant,p.Val127Ala,ENST00000378601,;DDB2,missense_variant,p.Val127Ala,ENST00000378600,;DDB2,missense_variant,p.Val127Ala,ENST00000256996,;DDB2,intron_variant,,ENST00000378603,;RP11-17G12.2,downstream_gene_variant,,ENST00000540410,;	575	147	132	SUCCESS
SPI1	6688	.	GRCh37	11	47376855	47376855	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	29	0	ENST00000378538.3:c.736A>G	p.Lys246Glu	p.K246E	ENST00000378538	NM_003120.2	246	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS44591.1	739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCTTCA	NONE	.	.	Prints_domain:PR00454,Superfamily_domains:SSF46785,SMART_domains:SM00413,Pfam_domain:PF00178,Gene3D:1.10.10.10,hmmpanther:PTHR11849:SF16,hmmpanther:PTHR11849,PROSITE_profiles:PS50061,Low_complexity_(Seg):seg	.	.	ENSP00000227163	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000227163	Transcript	.	.	ENSG00000066336	11241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.693)	.	deleterious(0)	.	SPI1_HUMAN	SPI1	HGNC	.	.	UPI0000D4ECF1	SNV	SPI1,missense_variant,p.Lys246Glu,ENST00000378538,;SPI1,missense_variant,p.Lys247Glu,ENST00000227163,;SPI1,3_prime_UTR_variant,,ENST00000533030,;MYBPC3,upstream_gene_variant,,ENST00000545968,;MYBPC3,upstream_gene_variant,,ENST00000256993,;MYBPC3,upstream_gene_variant,,ENST00000399249,;SPI1,downstream_gene_variant,,ENST00000533968,;MYBPC3,upstream_gene_variant,,ENST00000544791,;	777	29	36	SUCCESS
C1QTNF4	114900	.	GRCh37	11	47611408	47611408	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	69	123	0	ENST00000302514.3:c.955G>A	p.Ala319Thr	p.A319T	ENST00000302514	NM_031909.2	319	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7942.1	955	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF82	.	.	ENSP00000302274	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302514	Transcript	.	.	ENSG00000172247	14346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	tolerated_low_confidence(0.5)	.	C1QT4_HUMAN	C1QTNF4	HGNC	E9PPZ5_HUMAN	.	UPI00000746B6	SNV	C1QTNF4,missense_variant,p.Ala319Thr,ENST00000302514,;C1QTNF4,3_prime_UTR_variant,,ENST00000530097,;FAM180B,downstream_gene_variant,,ENST00000538490,;FAM180B,downstream_gene_variant,,ENST00000356737,;	1472	123	154	SUCCESS
C1QTNF4	114900	.	GRCh37	11	47612245	47612245	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs747640589	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	48	122	0	ENST00000302514.3:c.118del	p.Leu40TrpfsTer9	p.L40Wfs*9	ENST00000302514	NM_031909.2	40	Ctg/tg	0	C:0,-:0.0024	.	.	.	.	-	L/X	protein_coding	YES	CCDS7942.1	118	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCCAGGGGGG	NONE	byFrequency	.	PROSITE_profiles:PS50871,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	C:0.0001,-:0.0033	ENSP00000302274	.	2/2	.	.	.	.	.	.	.	.	rs371580513,rs747640589	2/2	PASS	ENST00000302514	Transcript	.	.	ENSG00000172247	14346	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C1QT4_HUMAN	C1QTNF4	HGNC	E9PPZ5_HUMAN	.	UPI00000746B6	deletion	C1QTNF4,frameshift_variant,p.Leu40TrpfsTer9,ENST00000302514,;C1QTNF4,frameshift_variant,p.Leu40TrpfsTer9,ENST00000530097,;FAM180B,downstream_gene_variant,,ENST00000538490,;FAM180B,downstream_gene_variant,,ENST00000356737,;	635	122	197	SUCCESS
AGBL2	79841	.	GRCh37	11	47689211	47689211	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	49	0	ENST00000525123.1:c.2252del	p.Lys751ArgfsTer19	p.K751Rfs*19	ENST00000525123	NM_024783.3	751	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS7944.1	2252	INDELOCATOR|VARSCANI	.	GACTTCTTTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF7	.	.	ENSP00000435582	.	16/19	.	.	.	.	.	.	.	.	COSM308987	16/19	PASS	ENST00000525123	Transcript	.	.	ENSG00000165923	26296	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CBPC2_HUMAN	AGBL2	HGNC	E9PJH3_HUMAN,E9PI49_HUMAN	.	UPI00001A95E3	deletion	AGBL2,frameshift_variant,p.Lys713ArgfsTer19,ENST00000528244,;AGBL2,frameshift_variant,p.Lys753ArgfsTer19,ENST00000357610,;AGBL2,frameshift_variant,p.Lys751ArgfsTer19,ENST00000298861,;AGBL2,frameshift_variant,p.Lys751ArgfsTer19,ENST00000525123,;AGBL2,downstream_gene_variant,,ENST00000529712,;AGBL2,3_prime_UTR_variant,,ENST00000528609,;	2538	49	46	SUCCESS
AGBL2	79841	.	GRCh37	11	47701557	47701557	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	36	134	0	ENST00000525123.1:c.1984del	p.Leu662PhefsTer10	p.L662Ffs*10	ENST00000525123	NM_024783.3	662	Ctt/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS7944.1	1984	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGAAGGGTGT	NONE	.	.	hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF7,Superfamily_domains:SSF53187	.	.	ENSP00000435582	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000525123	Transcript	.	.	ENSG00000165923	26296	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBPC2_HUMAN	AGBL2	HGNC	E9PJH3_HUMAN,E9PI49_HUMAN	.	UPI00001A95E3	deletion	AGBL2,frameshift_variant,p.Leu624PhefsTer10,ENST00000528244,;AGBL2,frameshift_variant,p.Leu662PhefsTer10,ENST00000357610,;AGBL2,frameshift_variant,p.Leu662PhefsTer10,ENST00000298861,;AGBL2,frameshift_variant,p.Leu662PhefsTer10,ENST00000525123,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,3_prime_UTR_variant,,ENST00000528609,;	2270	134	135	SUCCESS
OR4C11	219429	.	GRCh37	11	55371494	55371494	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	59	129	0	ENST00000302231.4:c.356A>T	p.Asp119Val	p.D119V	ENST00000302231	NM_001004700.2	119	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS31503.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGATCAACA	BUFFER|p.R120C|c.358C>T|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306651	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302231	Transcript	.	.	ENSG00000172188	15167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR4CB_HUMAN	OR4C11	HGNC	.	.	UPI000013E7AD	SNV	OR4C11,missense_variant,p.Asp119Val,ENST00000302231,;	381	129	146	SUCCESS
C11orf35	0	.	GRCh37	11	554999	554999	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776269643	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	88	0	ENST00000329451.3:c.1886A>G	p.Asp629Gly	p.D629G	ENST00000329451	NM_173573.2	629	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7701.1	1886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGTCCGCG	NONE	byFrequency	.	hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5	.	.	ENSP00000331167	.	14/14	.	.	.	.	.	.	.	.	rs776269643	14/14	PASS	ENST00000329451	Transcript	.	.	ENSG00000185522	28561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0.01)	.	CK035_HUMAN	C11orf35	HGNC	.	.	UPI0000456441	SNV	C11orf35,missense_variant,p.Asp629Gly,ENST00000329451,;C11orf35,downstream_gene_variant,,ENST00000486629,;C11orf35,downstream_gene_variant,,ENST00000441853,;LRRC56,downstream_gene_variant,,ENST00000270115,;RP11-496I9.1,upstream_gene_variant,,ENST00000527113,;RP11-496I9.1,upstream_gene_variant,,ENST00000533844,;RP11-496I9.1,upstream_gene_variant,,ENST00000527620,;C11orf35,non_coding_transcript_exon_variant,,ENST00000469990,;C11orf35,downstream_gene_variant,,ENST00000492515,;	1949	88	91	SUCCESS
OR5D13	390142	.	GRCh37	11	55541296	55541296	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	56	131	0	ENST00000361760.1:c.385del	p.Cys129ValfsTer27	p.C129Vfs*27	ENST00000361760	NM_001001967.1	128	gTt/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS31507.1	383	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCAGTTTGTA	BUFFER|p.R124H|c.371G>A|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000354800	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361760	Transcript	.	.	ENSG00000198877	15280	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR5DD_HUMAN	OR5D13	HGNC	.	.	UPI0000041C36	deletion	OR5D13,frameshift_variant,p.Cys129ValfsTer27,ENST00000361760,;	383	131	209	SUCCESS
OR5L1	219437	.	GRCh37	11	55579121	55579121	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs142577076	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	56	98	0	ENST00000333973.2:c.179A>T	p.Tyr60Phe	p.Y60F	ENST00000333973	NM_001004738.1	60	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS31509.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTACTTTT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	rs142577076,COSM390452,COSM3739112	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.933)	.	deleterious(0)	0,1,1	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Tyr60Phe,ENST00000333973,;	268	98	139	SUCCESS
OR5D18	219438	.	GRCh37	11	55587264	55587264	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs779376930	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	32	109	0	ENST00000333976.4:c.162del	p.Lys55AsnfsTer30	p.K55Nfs*30	ENST00000333976	NM_001001952.1	53	aaC/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS31510.1	159	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCAACCCCAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	rs779376930	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	deletion	OR5D18,frameshift_variant,p.Lys55AsnfsTer30,ENST00000333976,;	179	109	174	SUCCESS
OR5D16	390144	.	GRCh37	11	55606628	55606628	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	100	0	ENST00000378396.1:c.401A>G	p.Tyr134Cys	p.Y134C	ENST00000378396	NM_001005496.1	134	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31512.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTACACAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000367649	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378396	Transcript	.	.	ENSG00000205029	15283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious(0.01)	.	OR5DG_HUMAN	OR5D16	HGNC	.	.	UPI0000046198	SNV	OR5D16,missense_variant,p.Tyr134Cys,ENST00000378396,;	401	100	79	SUCCESS
OR8I2	120586	.	GRCh37	11	55860942	55860942	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	67	0	ENST00000302124.2:c.159T>G	p.Ser53=	p.S53=	ENST00000302124	NM_001003750.1	53	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31517.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTCAGCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303864	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302124	Transcript	.	.	ENSG00000172154	15310	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8I2_HUMAN	OR8I2	HGNC	H0YLY8_HUMAN	.	UPI0000041D16	SNV	OR8I2,synonymous_variant,p.%3D,ENST00000302124,;OR8I4P,downstream_gene_variant,,ENST00000526965,;	190	67	68	SUCCESS
OR8H3	390152	.	GRCh37	11	55890135	55890135	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	96	0	ENST00000313472.3:c.287G>A	p.Gly96Asp	p.G96D	ENST00000313472	NM_001005201.1	96	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31519.1	287	MUTECT|MUSE	.	CACGGGCTGCT	BUFFER|p.S93F|c.278C>T|3	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF280,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000323928	.	1/1	.	.	.	.	.	.	.	.	COSM4033786	1/1	PASS	ENST00000313472	Transcript	.	.	ENSG00000181761	15309	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.078)	.	deleterious(0.02)	1	OR8H3_HUMAN	OR8H3	HGNC	.	.	UPI0000041D25	SNV	OR8H3,missense_variant,p.Gly96Asp,ENST00000313472,;	287	96	113	SUCCESS
OR5AR1	219493	.	GRCh37	11	56432083	56432083	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	53	0	ENST00000302969.2:c.922A>G	p.Lys308Glu	p.K308E	ENST00000302969	NM_001004730.1	308	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS31535.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAAATCT	NONE	.	.	hmmpanther:PTHR26452:SF54,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000302639	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302969	Transcript	.	.	ENSG00000172459	15260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.15)	.	O5AR1_HUMAN	OR5AR1	HGNC	B9EIN0_HUMAN	.	UPI0000041C93	SNV	OR5AR1,missense_variant,p.Lys308Glu,ENST00000302969,;OR2AH1P,downstream_gene_variant,,ENST00000425717,;	946	53	55	SUCCESS
PRG2	5553	.	GRCh37	11	57155302	57155302	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142359007	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	185	0	ENST00000311862.5:c.535C>T	p.Arg179Cys	p.R179C	ENST00000311862	NM_002728.4	179	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS7955.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGGCTGC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR10068:SF7,hmmpanther:PTHR10068,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR00770	.	A:0.0001	ENSP00000312134	.	5/6	.	.	.	.	.	.	.	.	rs142359007,COSM110860	5/6	PASS	ENST00000311862	Transcript	.	.	ENSG00000186652	9362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.727)	.	tolerated(0.29)	0,1	PRG2_HUMAN	PRG2	HGNC	.	.	UPI000013CF50	SNV	PRG2,missense_variant,p.Arg168Cys,ENST00000533605,;PRG2,missense_variant,p.Arg179Cys,ENST00000311862,;PRG2,missense_variant,p.Arg179Cys,ENST00000525955,;RP11-872D17.8,downstream_gene_variant,,ENST00000529411,;RP11-872D17.8,non_coding_transcript_exon_variant,,ENST00000534081,;PRG2,non_coding_transcript_exon_variant,,ENST00000530105,;RP11-872D17.8,downstream_gene_variant,,ENST00000528835,;	609	185	145	SUCCESS
CLP1	10978	.	GRCh37	11	57428633	57428633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	57	141	0	ENST00000525602.1:c.1003C>A	p.Pro335Thr	p.P335T	ENST00000525602		335	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS7964.1	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCCAGAC	NONE	.	.	HAMAP:MF_03035,hmmpanther:PTHR12755:SF6,hmmpanther:PTHR12755,Pfam_domain:PF06807	.	.	ENSP00000434995	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000533682	Transcript	.	.	ENSG00000172409	16999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CLP1_HUMAN	CLP1	HGNC	E9PKV5_HUMAN,E9PJM4_HUMAN	.	UPI000012754A	SNV	CLP1,missense_variant,p.Pro271Thr,ENST00000302731,;CLP1,missense_variant,p.Pro335Thr,ENST00000533682,;CLP1,missense_variant,p.Pro335Thr,ENST00000525602,;CLP1,missense_variant,p.Pro346Thr,ENST00000529430,;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;	1728	141	128	SUCCESS
MS4A2	2206	.	GRCh37	11	59856152	59856152	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	53	132	0	ENST00000278888.3:c.-87C>A		p.*29*	ENST00000278888	NM_000139.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7980.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGCCTATT	NONE	.	.	.	.	.	ENSP00000278888	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,5_prime_UTR_variant,,ENST00000278888,;MS4A2,intron_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	16	132	78	SUCCESS
VPS37C	55048	.	GRCh37	11	60899319	60899319	+	synonymous_variant	Silent	SNP	C	C	T	rs1224713895	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	21	0	ENST00000301765.5:c.1041G>A	p.Pro347=	p.P347=	ENST00000301765	NM_017966.4	347	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31573.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCGGTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000301765	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301765	Transcript	.	.	ENSG00000167987	26097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP37C_HUMAN	VPS37C	HGNC	F5H4Q5_HUMAN	.	UPI00001AED12	SNV	VPS37C,synonymous_variant,p.%3D,ENST00000301765,;CD5,downstream_gene_variant,,ENST00000347785,;VPS37C,downstream_gene_variant,,ENST00000538036,;VPS37C,downstream_gene_variant,,ENST00000536000,;	1274	21	30	SUCCESS
PHRF1	57661	.	GRCh37	11	609548	609548	+	synonymous_variant	Silent	SNP	G	G	A	rs768079641	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	50	0	ENST00000264555.5:c.4092G>A	p.Ala1364=	p.A1364=	ENST00000264555	NM_020901.2	1364	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44507.1	4089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGCCTGC	NONE	byFrequency	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	.	ENSP00000410626	.	14/18	.	.	.	.	.	.	.	.	rs768079641	14/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,synonymous_variant,p.%3D,ENST00000264555,;PHRF1,synonymous_variant,p.%3D,ENST00000413872,;PHRF1,synonymous_variant,p.%3D,ENST00000533464,;PHRF1,synonymous_variant,p.%3D,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,synonymous_variant,p.%3D,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000525750,;	4182	50	46	SUCCESS
PHRF1	57661	.	GRCh37	11	610607	610607	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	89	0	ENST00000264555.5:c.4523C>T	p.Pro1508Leu	p.P1508L	ENST00000264555	NM_020901.2	1508	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44507.1	4520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCGCTAG	NONE	.	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	.	ENSP00000410626	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Pro1508Leu,ENST00000264555,;PHRF1,missense_variant,p.Pro1506Leu,ENST00000413872,;PHRF1,missense_variant,p.Pro1504Leu,ENST00000533464,;PHRF1,missense_variant,p.Pro1507Leu,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,intron_variant,,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000525750,;IRF7,downstream_gene_variant,,ENST00000533190,;	4613	89	100	SUCCESS
VWCE	220001	.	GRCh37	11	61062632	61062632	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	27	0	ENST00000335613.5:c.-123C>T		p.*41*	ENST00000335613	NM_152718.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8002.1	.	MUTECT|MUSE	.	AAATGGCACGC	NONE	.	.	.	.	.	ENSP00000334186	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000335613	Transcript	.	.	ENSG00000167992	26487	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VWCE_HUMAN	VWCE	HGNC	B4DY31_HUMAN	.	UPI000013E751	SNV	VWCE,5_prime_UTR_variant,,ENST00000335613,;DDB1,downstream_gene_variant,,ENST00000301764,;DDB1,downstream_gene_variant,,ENST00000450997,;DDB1,downstream_gene_variant,,ENST00000451943,;DDB1,downstream_gene_variant,,ENST00000538470,;DDB1,downstream_gene_variant,,ENST00000540166,;VWCE,upstream_gene_variant,,ENST00000538579,;VWCE,upstream_gene_variant,,ENST00000535599,;DDB1,downstream_gene_variant,,ENST00000545894,;VWCE,upstream_gene_variant,,ENST00000301770,;	265	27	20	SUCCESS
DAK	0	.	GRCh37	11	61102079	61102100	+	splice_acceptor_variant,5_prime_UTR_variant,intron_variant	Splice_Site	DEL	CCCACTCCTGCAGGTGCTGCTG	CCCACTCCTGCAGGTGCTGCTG	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	CCCACTCCTGCAGGTGCTGCTG	CCCACTCCTGCAGGTGCTGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	62	0	ENST00000394900.3:c.-109-13_-101delinsT		p.X37_splice	ENST00000394900	NM_015533.3	37		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8003.1	.	INDELOCATOR*|PINDEL	.	TCGTTACCCACTCCTGCAGGTGCTGCTGCTGCC	NONE	.	.	.	.	.	ENSP00000378360	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000394900	Transcript	.	.	ENSG00000149476	24552	.	.	HIGH	1/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHAK_HUMAN	DAK	HGNC	E9PQR1_HUMAN,E9PJG8_HUMAN	.	UPI00000718B9	substitution	DAK,splice_acceptor_variant,,ENST00000394900,;DAK,splice_acceptor_variant,,ENST00000532173,;DAK,5_prime_UTR_variant,,ENST00000524968,;DDB1,upstream_gene_variant,,ENST00000539426,;DDB1,upstream_gene_variant,,ENST00000543627,;DDB1,upstream_gene_variant,,ENST00000543658,;DAK,upstream_gene_variant,,ENST00000529479,;DDB1,upstream_gene_variant,,ENST00000535283,;DDB1,upstream_gene_variant,,ENST00000542337,;DDB1,upstream_gene_variant,,ENST00000301764,;DDB1,upstream_gene_variant,,ENST00000450997,;DAK,splice_acceptor_variant,,ENST00000530456,;DAK,splice_acceptor_variant,,ENST00000530057,;DAK,splice_acceptor_variant,,ENST00000525170,;DAK,splice_acceptor_variant,,ENST00000529620,;DAK,splice_acceptor_variant,,ENST00000533393,;DDB1,upstream_gene_variant,,ENST00000543162,;DAK,non_coding_transcript_exon_variant,,ENST00000529121,;DDB1,intron_variant,,ENST00000540166,;DDB1,upstream_gene_variant,,ENST00000538129,;DDB1,upstream_gene_variant,,ENST00000537120,;DAK,downstream_gene_variant,,ENST00000531820,;DAK,upstream_gene_variant,,ENST00000529092,;	?-129	62	51	SUCCESS
PPP1R32	220004	.	GRCh37	11	61249285	61249285	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	67	0	ENST00000338608.2:c.4A>T	p.Met2Leu	p.M2L	ENST00000338608	NM_145017.2	2	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS8008.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGATGGGG	NONE	.	.	.	.	.	ENSP00000344140	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000338608	Transcript	.	.	ENSG00000162148	28869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.05)	.	PPR32_HUMAN	PPP1R32	HGNC	G3F4G3_HUMAN,F5H272_HUMAN	.	UPI000013E13F	SNV	PPP1R32,missense_variant,p.Met2Leu,ENST00000338608,;PPP1R32,missense_variant,p.Met2Leu,ENST00000432063,;RP11-286N22.8,missense_variant,p.Met154Leu,ENST00000541135,;PPP1R32,upstream_gene_variant,,ENST00000535545,;PPP1R32,upstream_gene_variant,,ENST00000542951,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000544025,;RP11-286N22.8,intron_variant,,ENST00000544880,;RP11-286N22.8,stop_lost,p.Ter134CysextTer13,ENST00000544801,;RP11-286N22.8,stop_lost,p.Ter134CysextTer13,ENST00000538594,;RP11-286N22.8,3_prime_UTR_variant,,ENST00000543044,;	129	67	51	SUCCESS
RPLP0P2	113157	.	GRCh37	11	61404149	61404149	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs559612011	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	23	0	ENST00000496593.1:n.753G>A		p.*251*	ENST00000496593				0	.	A:0.0008	.	A:0	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGTGATG	NONE	by1000G	.	.	A:0	.	.	A:0	5/5	.	.	.	.	.	.	.	.	rs559612011	5/5	PASS	ENST00000496593	Transcript	.	A:0.0002	ENSG00000243742	17960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	RPLP0P2	HGNC	.	.	.	SNV	RPLP0P2,non_coding_transcript_exon_variant,,ENST00000496593,;RPLP0P2,downstream_gene_variant,,ENST00000475561,;RPLP0P2,downstream_gene_variant,,ENST00000492786,;RPLP0P2,downstream_gene_variant,,ENST00000475331,;RPLP0P2,downstream_gene_variant,,ENST00000478959,;RPLP0P2,upstream_gene_variant,,ENST00000490750,;	753	23	18	SUCCESS
FEN1	2237	.	GRCh37	11	61563849	61563849	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs573495657	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	67	216	0	ENST00000305885.2:c.1016G>A	p.Arg339His	p.R339H	ENST00000305885	NM_004111.5	339	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS8010.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGCCTGG	NONE	by1000G	.	HAMAP:MF_00614,hmmpanther:PTHR11081,Superfamily_domains:SSF47807	A:0	.	ENSP00000305480	A:0	2/2	.	.	.	.	.	.	.	.	rs573495657,COSM1355266	2/2	PASS	ENST00000305885	Transcript	.	A:0.0002	ENSG00000168496	3650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	A:0.001	deleterious(0)	0,1	FEN1_HUMAN	FEN1	HGNC	Q6FHX6_HUMAN,F5H1Y3_HUMAN,B4DWZ4_HUMAN	.	UPI0000050E0F	SNV	FEN1,missense_variant,p.Arg339His,ENST00000305885,;FEN1,missense_variant,p.Arg147His,ENST00000535307,;FADS2,intron_variant,,ENST00000574708,;FEN1,downstream_gene_variant,,ENST00000535723,;TMEM258,upstream_gene_variant,,ENST00000537328,;FADS1,downstream_gene_variant,,ENST00000350997,;TMEM258,upstream_gene_variant,,ENST00000543510,;MIR611,upstream_gene_variant,,ENST00000384869,;TMEM258,upstream_gene_variant,,ENST00000545210,;TMEM258,upstream_gene_variant,,ENST00000540434,;TMEM258,upstream_gene_variant,,ENST00000535297,;TMEM258,upstream_gene_variant,,ENST00000541893,;TMEM258,upstream_gene_variant,,ENST00000257262,;	1429	216	180	SUCCESS
AHNAK	79026	.	GRCh37	11	62303477	62303477	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777477987	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	43	0	ENST00000378024.4:c.94G>A	p.Val32Ile	p.V32I	ENST00000378024	NM_001620.2	32	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31584.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGACGCCGT	NONE	byFrequency	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000367263	.	3/5	.	.	.	.	.	.	.	.	rs777477987	3/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Val32Ile,ENST00000378024,;AHNAK,missense_variant,p.Val32Ile,ENST00000531324,;AHNAK,missense_variant,p.Val32Ile,ENST00000530285,;AHNAK,missense_variant,p.Val32Ile,ENST00000533365,;AHNAK,missense_variant,p.Val32Ile,ENST00000528508,;AHNAK,missense_variant,p.Val32Ile,ENST00000530124,;AHNAK,missense_variant,p.Val32Ile,ENST00000257247,;RP11-864I4.3,upstream_gene_variant,,ENST00000544108,;	369	43	59	SUCCESS
EML3	256364	.	GRCh37	11	62370721	62370721	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	27	0	ENST00000394773.2:c.2258-2A>C		p.X753_splice	ENST00000394773	NM_153265.2	753		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8023.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGGGGA	NONE	.	.	.	.	.	ENSP00000378254	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394773	Transcript	.	.	ENSG00000149499	26666	.	.	HIGH	19/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMAL3_HUMAN	EML3	HGNC	G3V195_HUMAN,E9PJV5_HUMAN,C9J6V3_HUMAN	.	UPI0000228E33	SNV	EML3,splice_acceptor_variant,,ENST00000278845,;EML3,splice_acceptor_variant,,ENST00000494176,;EML3,splice_acceptor_variant,,ENST00000394773,;EML3,splice_acceptor_variant,,ENST00000529309,;EML3,splice_acceptor_variant,,ENST00000394776,;EML3,splice_acceptor_variant,,ENST00000439994,;EML3,splice_acceptor_variant,,ENST00000531557,;MTA2,upstream_gene_variant,,ENST00000524902,;MTA2,upstream_gene_variant,,ENST00000527204,;MTA2,upstream_gene_variant,,ENST00000278823,;RP11-831H9.3,upstream_gene_variant,,ENST00000532626,;EML3,downstream_gene_variant,,ENST00000438258,;EML3,splice_acceptor_variant,,ENST00000460939,;EML3,splice_acceptor_variant,,ENST00000533165,;EML3,splice_acceptor_variant,,ENST00000494448,;EML3,downstream_gene_variant,,ENST00000526116,;EML3,downstream_gene_variant,,ENST00000462626,;EML3,downstream_gene_variant,,ENST00000483199,;MTA2,upstream_gene_variant,,ENST00000532239,;EML3,downstream_gene_variant,,ENST00000524518,;MTA2,upstream_gene_variant,,ENST00000526844,;	.	27	24	SUCCESS
CHRM1	1128	.	GRCh37	11	62677349	62677349	+	synonymous_variant	Silent	SNP	G	G	A	rs781002435	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	42	139	0	ENST00000306960.3:c.1224C>T	p.Tyr408=	p.Y408=	ENST00000306960	NM_000738.2	408	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS8040.1	1224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACGTAGCA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF216,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00243,Prints_domain:PR00237	.	.	ENSP00000306490	.	2/2	.	.	.	.	.	.	.	.	rs781002435	2/2	PASS	ENST00000306960	Transcript	.	.	ENSG00000168539	1950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM1_HUMAN	CHRM1	HGNC	Q96RH1_HUMAN,Q53XZ3_HUMAN,F5GZF8_HUMAN	.	UPI00001252AB	SNV	CHRM1,synonymous_variant,p.%3D,ENST00000543973,;CHRM1,synonymous_variant,p.%3D,ENST00000306960,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.2,intron_variant,,ENST00000543624,;	1766	139	121	SUCCESS
MAP4K2	5871	.	GRCh37	11	64557055	64557055	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774975786	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	120	0	ENST00000294066.2:c.2417C>T	p.Ala806Val	p.A806V	ENST00000294066	NM_004579.3	806	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8082.1	2417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGCCTCT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,PIRSF_domain:PIRSF038172	.	.	ENSP00000294066	.	32/32	.	.	.	.	.	.	.	.	rs774975786	32/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.35)	.	deleterious(0.02)	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,missense_variant,p.Ala798Val,ENST00000377350,;MAP4K2,missense_variant,p.Ala806Val,ENST00000294066,;RP11-869B15.1,upstream_gene_variant,,ENST00000598393,;MAP4K2,3_prime_UTR_variant,,ENST00000424945,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000470088,;MAP4K2,downstream_gene_variant,,ENST00000489952,;	2509	120	103	SUCCESS
CDC42BPG	55561	.	GRCh37	11	64592001	64592001	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	127	327	0	ENST00000342711.5:c.4600G>A	p.Val1534Ile	p.V1534I	ENST00000342711	NM_017525.2	1534	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31601.1	4600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGACCTGCA	NONE	.	.	.	.	.	ENSP00000345133	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000342711	Transcript	.	.	ENSG00000171219	29829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated_low_confidence(0.14)	.	MRCKG_HUMAN	CDC42BPG	HGNC	.	.	UPI000047C9E2	SNV	CDC42BPG,missense_variant,p.Val1534Ile,ENST00000342711,;	4600	327	331	SUCCESS
EHD1	10938	.	GRCh37	11	64622239	64622239	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1462494316	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	31	0	ENST00000320631.3:c.1171G>A	p.Ala391Thr	p.A391T	ENST00000320631	NM_006795.2	391	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8084.1	1171	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGCGATGT	NONE	.	.	hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF60	.	.	ENSP00000320516	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320631	Transcript	.	.	ENSG00000110047	3242	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.16)	.	EHD1_HUMAN	EHD1	HGNC	C9JIJ3_HUMAN,C9JDQ8_HUMAN,C9J2Z4_HUMAN,C9IZH1_HUMAN,B2R5U3_HUMAN	.	UPI0000129E22	SNV	EHD1,missense_variant,p.Ala391Thr,ENST00000359393,;EHD1,missense_variant,p.Ala255Thr,ENST00000421510,;EHD1,missense_variant,p.Ala391Thr,ENST00000320631,;EHD1,downstream_gene_variant,,ENST00000433803,;EHD1,non_coding_transcript_exon_variant,,ENST00000488711,;EHD1,non_coding_transcript_exon_variant,,ENST00000484846,;EHD1,downstream_gene_variant,,ENST00000466015,;EHD1,downstream_gene_variant,,ENST00000498472,;	1426	31	27	SUCCESS
NAALADL1	10004	.	GRCh37	11	64813529	64813529	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756376050	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	44	0	ENST00000358658.3:c.1913G>A	p.Arg638His	p.R638H	ENST00000358658	NM_005468.2	638	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS31604.1	1913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGCGTTGG	NONE	.	.	hmmpanther:PTHR10404:SF40,hmmpanther:PTHR10404,Gene3D:3kasA03,Pfam_domain:PF04253,Superfamily_domains:SSF47672	.	.	ENSP00000351484	.	16/18	.	.	.	.	.	.	.	.	rs756376050	16/18	PASS	ENST00000358658	Transcript	.	.	ENSG00000168060	23536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.39)	.	NALDL_HUMAN	NAALADL1	HGNC	E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN	.	UPI000013E761	SNV	NAALADL1,missense_variant,p.Arg689His,ENST00000340252,;NAALADL1,missense_variant,p.Arg603His,ENST00000356632,;NAALADL1,missense_variant,p.Arg45His,ENST00000533753,;NAALADL1,missense_variant,p.Arg638His,ENST00000358658,;NAALADL1,missense_variant,p.Arg597His,ENST00000355721,;NAALADL1,5_prime_UTR_variant,,ENST00000526516,;NAALADL1,5_prime_UTR_variant,,ENST00000532802,;NAALADL1,5_prime_UTR_variant,,ENST00000533340,;NAALADL1,5_prime_UTR_variant,,ENST00000526799,;NAALADL1,5_prime_UTR_variant,,ENST00000530995,;NAALADL1,3_prime_UTR_variant,,ENST00000339885,;NAALADL1,3_prime_UTR_variant,,ENST00000355369,;NAALADL1,5_prime_UTR_variant,,ENST00000533842,;NAALADL1,5_prime_UTR_variant,,ENST00000528884,;SAC3D1,downstream_gene_variant,,ENST00000531072,;SAC3D1,downstream_gene_variant,,ENST00000398846,;SAC3D1,downstream_gene_variant,,ENST00000529996,;NAALADL1,downstream_gene_variant,,ENST00000530139,;RN7SL114P,downstream_gene_variant,,ENST00000582042,;SAC3D1,downstream_gene_variant,,ENST00000533017,;SAC3D1,downstream_gene_variant,,ENST00000530213,;SAC3D1,downstream_gene_variant,,ENST00000528109,;NAALADL1,3_prime_UTR_variant,,ENST00000532450,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529685,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000534568,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000531746,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000531174,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,downstream_gene_variant,,ENST00000524445,;NAALADL1,downstream_gene_variant,,ENST00000532432,;	1941	44	49	SUCCESS
RELA	5970	.	GRCh37	11	65426225	65426225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	33	73	0	ENST00000406246.3:c.628G>T	p.Asp210Tyr	p.D210Y	ENST00000406246	NM_001243985.1	210	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31609.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCCCCAC	NONE	.	.	hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF1,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296,Prints_domain:PR00057	.	.	ENSP00000384273	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000406246	Transcript	.	.	ENSG00000173039	9955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TF65_HUMAN	RELA	HGNC	Q96F54_HUMAN,E9PRX2_HUMAN,E9PJZ9_HUMAN,E9PJR1_HUMAN,E9PI38_HUMAN	.	UPI000013ED68	SNV	RELA,missense_variant,p.Asp179Tyr,ENST00000527749,;RELA,missense_variant,p.Asp201Tyr,ENST00000534558,;RELA,missense_variant,p.Asp210Tyr,ENST00000406246,;RELA,missense_variant,p.Asp210Tyr,ENST00000525693,;RELA,missense_variant,p.Asp221Tyr,ENST00000532999,;RELA,missense_variant,p.Asp207Tyr,ENST00000308639,;RELA,intron_variant,,ENST00000526257,;RELA,downstream_gene_variant,,ENST00000533187,;RELA,downstream_gene_variant,,ENST00000532879,;RELA,downstream_gene_variant,,ENST00000527874,;RELA,downstream_gene_variant,,ENST00000534283,;RELA,missense_variant,p.Asp210Tyr,ENST00000526283,;RELA,3_prime_UTR_variant,,ENST00000529389,;RELA,3_prime_UTR_variant,,ENST00000533546,;RELA,3_prime_UTR_variant,,ENST00000525658,;RELA,3_prime_UTR_variant,,ENST00000527909,;RELA,non_coding_transcript_exon_variant,,ENST00000531484,;RELA,non_coding_transcript_exon_variant,,ENST00000526738,;RELA,downstream_gene_variant,,ENST00000531238,;RELA,downstream_gene_variant,,ENST00000529330,;RELA,downstream_gene_variant,,ENST00000534305,;RELA,downstream_gene_variant,,ENST00000525301,;RELA,downstream_gene_variant,,ENST00000525858,;RELA,downstream_gene_variant,,ENST00000532776,;RELA,downstream_gene_variant,,ENST00000527074,;	890	73	52	SUCCESS
ACTN3	89	.	GRCh37	11	66319034	66319034	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138699570	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	78	0	ENST00000513398.1:c.298C>T	p.Arg100Cys	p.R100C	ENST00000513398	NM_001104.2	100	Cgc/Tgc	0	T:0	T:0	.	T:0	.	T	.	nonsense_mediated_decay	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCGCTTC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0002	ENSP00000426236	T:0.002	3/5	.	.	.	.	.	.	.	.	rs138699570,COSM3710232	3/5	PASS	ENST00000511191	Transcript	.	T:0.0004	ENSG00000248746	165	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	.	ACTN3	HGNC	D6RH00_HUMAN	.	UPI0001D3B49A	SNV	ACTN3,3_prime_UTR_variant,,ENST00000511191,;ACTN3,missense_variant,p.Arg100Cys,ENST00000513398,;ACTN3,missense_variant,p.Arg143Cys,ENST00000502692,;	507	79	79	SUCCESS
RBM4	5936	.	GRCh37	11	66411228	66411228	+	synonymous_variant	Silent	SNP	C	C	T	rs372104227	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	48	0	ENST00000310092.7:c.720C>T	p.Ser240=	p.S240=	ENST00000310092	NM_002896.3	240	tcC/tcT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS55774.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCGTGTA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF242	.	T:0.0001	ENSP00000388552	.	2/3	.	.	.	.	.	.	.	.	rs372104227	2/3	PASS	ENST00000412278	Transcript	.	.	ENSG00000248643	38840	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RBM14-RBM4	HGNC	.	.	UPI0001641710	SNV	RBM14-RBM4,synonymous_variant,p.%3D,ENST00000412278,;RBM4,synonymous_variant,p.%3D,ENST00000503028,;RBM4,synonymous_variant,p.%3D,ENST00000409406,;RBM4,synonymous_variant,p.%3D,ENST00000408993,;RBM4,synonymous_variant,p.%3D,ENST00000514361,;RBM4,synonymous_variant,p.%3D,ENST00000310092,;RBM4,intron_variant,,ENST00000398692,;RBM4,intron_variant,,ENST00000506523,;RBM4,intron_variant,,ENST00000510173,;RBM4,intron_variant,,ENST00000396053,;RBM4,intron_variant,,ENST00000530235,;RBM4,intron_variant,,ENST00000578778,;RBM14-RBM4,intron_variant,,ENST00000500635,;RBM4,downstream_gene_variant,,ENST00000532968,;RBM4,downstream_gene_variant,,ENST00000483858,;RBM4,non_coding_transcript_exon_variant,,ENST00000515838,;RBM4,intron_variant,,ENST00000528039,;RBM14-RBM4,3_prime_UTR_variant,,ENST00000421355,;	740	48	46	SUCCESS
ANKRD13D	338692	.	GRCh37	11	67069033	67069033	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755325079	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	75	0	ENST00000308440.6:c.1162C>T	p.Arg388Cys	p.R388C	ENST00000308440		388	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS31616.2	1423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCGCAAC	NONE	.	.	hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF2	.	.	ENSP00000427130	.	13/15	.	.	.	.	.	.	.	.	rs755325079,COSM4035937,COSM4035936	13/15	PASS	ENST00000511455	Transcript	.	.	ENSG00000172932	27880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1,1	AN13D_HUMAN	ANKRD13D	HGNC	B3KND9_HUMAN	.	UPI00001981D2	SNV	ANKRD13D,missense_variant,p.Arg125Cys,ENST00000515828,;ANKRD13D,missense_variant,p.Arg475Cys,ENST00000511455,;ANKRD13D,missense_variant,p.Arg388Cys,ENST00000447274,;ANKRD13D,missense_variant,p.Arg388Cys,ENST00000308440,;ANKRD13D,missense_variant,p.Arg388Cys,ENST00000514166,;SSH3,upstream_gene_variant,,ENST00000308127,;SSH3,upstream_gene_variant,,ENST00000308298,;SSH3,upstream_gene_variant,,ENST00000376757,;ANKRD13D,non_coding_transcript_exon_variant,,ENST00000504236,;ANKRD13D,intron_variant,,ENST00000508422,;SSH3,upstream_gene_variant,,ENST00000534112,;SSH3,upstream_gene_variant,,ENST00000532181,;ANKRD13D,non_coding_transcript_exon_variant,,ENST00000512231,;ANKRD13D,non_coding_transcript_exon_variant,,ENST00000513750,;ANKRD13D,non_coding_transcript_exon_variant,,ENST00000507915,;ANKRD13D,intron_variant,,ENST00000508417,;ANKRD13D,downstream_gene_variant,,ENST00000506119,;ANKRD13D,downstream_gene_variant,,ENST00000504186,;SSH3,upstream_gene_variant,,ENST00000532881,;ANKRD13D,downstream_gene_variant,,ENST00000506531,;SSH3,upstream_gene_variant,,ENST00000532600,;	1593	75	100	SUCCESS
CLCF1	23529	.	GRCh37	11	67141155	67141155	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	30	0	ENST00000312438.7:c.-145A>G		p.*49*	ENST00000312438	NM_013246.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31617.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTTTTTT	NONE	.	.	.	.	.	ENSP00000309338	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000312438	Transcript	.	.	ENSG00000175505	17412	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLCF1_HUMAN	CLCF1	HGNC	.	.	UPI000003F7F1	SNV	CLCF1,5_prime_UTR_variant,,ENST00000312438,;CLCF1,intron_variant,,ENST00000533438,;AP003419.11,upstream_gene_variant,,ENST00000543494,;	54	30	17	SUCCESS
MRGPRF	116535	.	GRCh37	11	68772834	68772834	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755456887	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	44	0	ENST00000309099.6:c.944G>A	p.Arg315Gln	p.R315Q	ENST00000309099	NM_145015.4	315	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8188.1	944	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCCGCAGG	NONE	byFrequency	.	hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3,Prints_domain:PR02108	.	.	ENSP00000309782	.	3/3	.	.	.	.	.	.	.	.	rs755456887	3/3	PASS	ENST00000309099	Transcript	.	.	ENSG00000172935	24828	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	tolerated(0.4)	.	MRGRF_HUMAN	MRGPRF	HGNC	Q8N7J6_HUMAN	.	UPI000012F566	SNV	MRGPRF,missense_variant,p.Arg315Gln,ENST00000441623,;MRGPRF,missense_variant,p.Arg315Gln,ENST00000309099,;MRGPRF,downstream_gene_variant,,ENST00000320913,;RP11-554A11.5,downstream_gene_variant,,ENST00000562506,;RP11-554A11.4,upstream_gene_variant,,ENST00000562276,;	1327	44	33	SUCCESS
OR10A2	341276	.	GRCh37	11	6891212	6891212	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	6	176	0	ENST00000307322.4:c.227A>T	p.Asp76Val	p.D76V	ENST00000307322	NM_001004460.1	76	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31415.1	227	MUTECT|MUSE	.	CCAGGACACAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF90,PROSITE_profiles:PS50262	.	.	ENSP00000303862	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307322	Transcript	.	.	ENSG00000170790	8161	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.421)	.	deleterious(0.02)	.	O10A2_HUMAN	OR10A2	HGNC	.	.	UPI000015F21C	SNV	OR10A2,missense_variant,p.Asp76Val,ENST00000307322,;	289	176	153	SUCCESS
SHANK2	22941	.	GRCh37	11	70332826	70332826	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1555153814	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	88	0	ENST00000423696.2:c.2435C>T	p.Ala812Val	p.A812V	ENST00000423696		812	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	.	3575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	32/33	.	.	.	.	.	.	.	.	.	32/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.4)	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Ala595Val,ENST00000409161,;SHANK2,missense_variant,p.Ala470Val,ENST00000424924,;SHANK2,missense_variant,p.Ala812Val,ENST00000423696,;SHANK2,missense_variant,p.Ala815Val,ENST00000294018,;SHANK2,missense_variant,p.Ala1192Val,ENST00000338508,;SHANK2,missense_variant,p.Ala596Val,ENST00000449833,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000449116,;	3575	88	66	SUCCESS
SHANK2	22941	.	GRCh37	11	70653124	70653124	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377433895	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	97	0	ENST00000423696.2:c.509G>A	p.Arg170His	p.R170H	ENST00000423696		170	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	.	1649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGCGGTGA	NONE	byCluster	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	T:0.0003	ENSP00000345193	.	19/33	.	.	.	.	.	.	.	.	rs377433895,COSM931542	19/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.33)	.	deleterious(0)	0,1	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Arg180His,ENST00000294018,;SHANK2,missense_variant,p.Arg550His,ENST00000338508,;SHANK2,missense_variant,p.Arg170His,ENST00000423696,;SHANK2,downstream_gene_variant,,ENST00000425049,;SHANK2,non_coding_transcript_exon_variant,,ENST00000460048,;SHANK2,non_coding_transcript_exon_variant,,ENST00000468619,;SHANK2,non_coding_transcript_exon_variant,,ENST00000470759,;SHANK2,non_coding_transcript_exon_variant,,ENST00000498519,;	1649	97	83	SUCCESS
EPS8L2	64787	.	GRCh37	11	721123	721123	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	14	94	0	ENST00000318562.8:c.617C>T	p.Ala206Val	p.A206V	ENST00000318562	NM_022772.3	206	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31328.1	617	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF20	.	.	ENSP00000435585	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000533256	Transcript	.	.	ENSG00000177106	21296	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.283)	.	tolerated(0.08)	.	ES8L2_HUMAN	EPS8L2	HGNC	E9PNY4_HUMAN,E9PNT0_HUMAN,E9PN68_HUMAN,E9PLN2_HUMAN,E9PLH1_HUMAN	.	UPI000006226C	SNV	EPS8L2,missense_variant,p.Ala206Val,ENST00000318562,;EPS8L2,missense_variant,p.Ala206Val,ENST00000530636,;EPS8L2,missense_variant,p.Ala222Val,ENST00000526198,;EPS8L2,missense_variant,p.Ala206Val,ENST00000533256,;EPS8L2,downstream_gene_variant,,ENST00000533500,;EPS8L2,downstream_gene_variant,,ENST00000534755,;EPS8L2,downstream_gene_variant,,ENST00000531348,;EPS8L2,downstream_gene_variant,,ENST00000524763,;AP006621.9,intron_variant,,ENST00000527021,;EPS8L2,missense_variant,p.Ala17Val,ENST00000528770,;EPS8L2,missense_variant,p.Ala14Val,ENST00000530452,;EPS8L2,3_prime_UTR_variant,,ENST00000526909,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000524474,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000526651,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000532545,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000529346,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000531471,;EPS8L2,upstream_gene_variant,,ENST00000531393,;EPS8L2,downstream_gene_variant,,ENST00000527807,;EPS8L2,upstream_gene_variant,,ENST00000527832,;EPS8L2,upstream_gene_variant,,ENST00000534679,;EPS8L2,upstream_gene_variant,,ENST00000533816,;EPS8L2,downstream_gene_variant,,ENST00000530118,;	992	94	103	SUCCESS
ARAP1	116985	.	GRCh37	11	72437830	72437830	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	35	110	0	ENST00000393609.3:c.344del	p.Pro115HisfsTer39	p.P115Hfs*39	ENST00000393609	NM_001040118.2	115	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS41687.1	344	INDELOCATOR*|PINDEL	.	ATGGGTGGGGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000377233	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000393609	Transcript	.	.	ENSG00000186635	16925	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARAP1_HUMAN	ARAP1	HGNC	F8WBT0_HUMAN,F5GWN4_HUMAN	.	UPI000053F81B	deletion	ARAP1,frameshift_variant,p.Pro115HisfsTer39,ENST00000393609,;ARAP1,frameshift_variant,p.Pro115HisfsTer39,ENST00000455638,;ARAP1,frameshift_variant,p.Pro115HisfsTer39,ENST00000359373,;ARAP1,upstream_gene_variant,,ENST00000426523,;ARAP1,upstream_gene_variant,,ENST00000334211,;ARAP1,upstream_gene_variant,,ENST00000429686,;ARAP1,upstream_gene_variant,,ENST00000465814,;	547	110	139	SUCCESS
DNAJB13	374407	.	GRCh37	11	73675956	73675956	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	93	0	ENST00000339764.1:c.368T>A	p.Leu123Ter	p.L123*	ENST00000339764	NM_153614.2	123	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS8227.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTTGAACT	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF201	.	.	ENSP00000344431	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000339764	Transcript	.	.	ENSG00000187726	30718	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DJB13_HUMAN	DNAJB13	HGNC	.	.	UPI00001BFAF7	SNV	DNAJB13,stop_gained,p.Leu24Ter,ENST00000542350,;DNAJB13,stop_gained,p.Leu123Ter,ENST00000339764,;DNAJB13,5_prime_UTR_variant,,ENST00000537753,;DNAJB13,upstream_gene_variant,,ENST00000543947,;RP11-167N4.2,non_coding_transcript_exon_variant,,ENST00000540886,;RP11-167N4.2,non_coding_transcript_exon_variant,,ENST00000537019,;	1119	93	89	SUCCESS
C2CD3	26005	.	GRCh37	11	73801915	73801915	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758046987	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	87	0	ENST00000334126.7:c.3584G>A	p.Arg1195Gln	p.R1195Q	ENST00000334126	NM_001286577.1	1195	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS31636.1	3584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCGGGCA	NONE	byFrequency	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,Gene3D:2.60.40.150	.	.	ENSP00000323339	.	20/31	.	.	.	.	.	.	.	.	rs758046987	20/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.4)	.	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Arg3Gln,ENST00000414160,;C2CD3,missense_variant,p.Arg1195Gln,ENST00000313663,;C2CD3,missense_variant,p.Arg1195Gln,ENST00000334126,;C2CD3,non_coding_transcript_exon_variant,,ENST00000540057,;	3811	88	92	SUCCESS
ARRB1	408	.	GRCh37	11	74984011	74984011	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	84	0	ENST00000420843.2:c.926G>A	p.Gly309Asp	p.G309D	ENST00000420843	NM_004041.4	309	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS44684.1	926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACCTTCC	NONE	.	.	hmmpanther:PTHR11792:SF22,hmmpanther:PTHR11792,Pfam_domain:PF02752,Gene3D:1g4mB02,SMART_domains:SM01017,Superfamily_domains:SSF81296	.	.	ENSP00000409581	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000420843	Transcript	.	.	ENSG00000137486	711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.201)	.	deleterious(0.05)	.	ARRB1_HUMAN	ARRB1	HGNC	.	.	UPI0000126076	SNV	ARRB1,missense_variant,p.Gly134Asp,ENST00000532447,;ARRB1,missense_variant,p.Gly309Asp,ENST00000360025,;ARRB1,missense_variant,p.Gly309Asp,ENST00000420843,;ARRB1,missense_variant,p.Gly309Asp,ENST00000393505,;ARRB1,downstream_gene_variant,,ENST00000532525,;ARRB1,non_coding_transcript_exon_variant,,ENST00000531012,;ARRB1,non_coding_transcript_exon_variant,,ENST00000529741,;	1024	84	81	SUCCESS
B3GNT6	192134	.	GRCh37	11	76751049	76751049	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782676328	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	20	0	ENST00000533140.1:c.454C>T	p.Arg152Cys	p.R152C	ENST00000533140	NM_138706.4	152	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS53681.1	454	MUTECT|MUSE	.	CAGTGCGCCGC	NONE	.	.	hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF24,Pfam_domain:PF01762	.	.	ENSP00000435352	.	2/2	.	.	.	.	.	.	.	.	rs782676328	2/2	PASS	ENST00000533140	Transcript	.	.	ENSG00000198488	24141	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	deleterious(0.02)	.	B3GN6_HUMAN	B3GNT6	HGNC	E9PJ79_HUMAN	.	UPI00001FAFE0	SNV	B3GNT6,missense_variant,p.Arg63Cys,ENST00000421061,;B3GNT6,missense_variant,p.Arg152Cys,ENST00000533140,;B3GNT6,missense_variant,p.Arg152Cys,ENST00000354301,;B3GNT6,downstream_gene_variant,,ENST00000528622,;	592	20	28	SUCCESS
MYO7A	4647	.	GRCh37	11	76919769	76919769	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	41	0	ENST00000409709.3:c.5972T>C	p.Val1991Ala	p.V1991A	ENST00000409709	NM_000260.3	1991	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS53683.1	5972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTGTTCT	NONE	.	.	PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000386331	.	44/49	.	.	.	.	.	.	.	.	.	44/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	deleterious(0)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Val1133Ala,ENST00000458169,;MYO7A,missense_variant,p.Val1942Ala,ENST00000409619,;MYO7A,missense_variant,p.Val1991Ala,ENST00000409709,;MYO7A,missense_variant,p.Val1953Ala,ENST00000458637,;MYO7A,non_coding_transcript_exon_variant,,ENST00000605744,;MYO7A,upstream_gene_variant,,ENST00000526863,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000481532,;	6244	41	45	SUCCESS
RSF1	51773	.	GRCh37	11	77411876	77411876	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	40	0	ENST00000308488.6:c.2398del	p.Arg800GlufsTer24	p.R800Efs*24	ENST00000308488		800	Aga/ga	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS8253.1	2398	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCTCTTTTTT	NONE	.	.	hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	6/16	.	.	.	.	.	.	.	.	COSM1735411	6/16	PASS	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	deletion	RSF1,frameshift_variant,p.Arg800GlufsTer24,ENST00000308488,;RSF1,frameshift_variant,p.Arg769GlufsTer24,ENST00000360355,;RSF1,frameshift_variant,p.Arg601GlufsTer24,ENST00000526324,;RSF1,frameshift_variant,p.Arg548GlufsTer24,ENST00000480887,;RSF1,frameshift_variant,p.Arg57GlufsTer24,ENST00000532556,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,downstream_gene_variant,,ENST00000528095,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,upstream_gene_variant,,ENST00000531768,;	2701	40	51	SUCCESS
RSF1	51773	.	GRCh37	11	77412511	77412511	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1274843850	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	128	1	ENST00000308488.6:c.1763T>C	p.Leu588Ser	p.L588S	ENST00000308488		588	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS8253.1	1763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTAACTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.16)	.	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	SNV	RSF1,missense_variant,p.Leu588Ser,ENST00000308488,;RSF1,missense_variant,p.Leu557Ser,ENST00000360355,;RSF1,missense_variant,p.Leu587Ser,ENST00000528095,;RSF1,missense_variant,p.Leu389Ser,ENST00000526324,;RSF1,missense_variant,p.Leu336Ser,ENST00000480887,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,upstream_gene_variant,,ENST00000532556,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,upstream_gene_variant,,ENST00000531768,;	2066	129	103	SUCCESS
GAB2	9846	.	GRCh37	11	77930356	77930356	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747450985	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	75	0	ENST00000361507.4:c.1993C>T	p.Arg665Trp	p.R665W	ENST00000361507	NM_080491.2	665	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8259.1	1993	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGCACGT	NONE	.	.	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF4	.	.	ENSP00000354952	.	10/10	.	.	.	.	.	.	.	.	rs747450985	10/10	PASS	ENST00000361507	Transcript	.	.	ENSG00000033327	14458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	GAB2_HUMAN	GAB2	HGNC	E9PJE2_HUMAN,E9PJ26_HUMAN	.	UPI0000073037	SNV	GAB2,missense_variant,p.Arg665Trp,ENST00000361507,;GAB2,missense_variant,p.Arg627Trp,ENST00000340149,;USP35,downstream_gene_variant,,ENST00000529308,;USP35,downstream_gene_variant,,ENST00000526425,;USP35,downstream_gene_variant,,ENST00000441408,;USP35,downstream_gene_variant,,ENST00000530546,;	2079	75	69	SUCCESS
TENM4	26011	.	GRCh37	11	78412813	78412813	+	synonymous_variant	Silent	SNP	G	G	A	rs201252316	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	99	0	ENST00000278550.7:c.4845C>T	p.Asp1615=	p.D1615=	ENST00000278550	NM_001098816.2	1615	gaC/gaT	0	A:0.0002	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS44688.1	4845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCGTCCCC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF63829,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	A:0	A:0.001	ENSP00000278550	A:0.001	28/34	.	.	.	.	.	.	.	.	rs201252316	28/34	common_in_exac	ENST00000278550	Transcript	.	A:0.0002	ENSG00000149256	29945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,synonymous_variant,p.%3D,ENST00000278550,;TENM4,synonymous_variant,p.%3D,ENST00000530738,;	5308	99	113	SUCCESS
SLC25A22	79751	.	GRCh37	11	792953	792953	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	71	0	ENST00000320230.5:c.329G>A	p.Gly110Asp	p.G110D	ENST00000320230	NM_024698.5	110	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7715.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCCGCC	NONE	.	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089:SF219,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	.	.	ENSP00000322020	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000320230	Transcript	.	.	ENSG00000177542	19954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GHC1_HUMAN	SLC25A22	HGNC	K4DIB8_HUMAN,K4DIB6_HUMAN,K4DIB4_HUMAN,K4DIB3_HUMAN,K4DIB2_HUMAN,K4DIB0_HUMAN,K4DIA8_HUMAN,K4DIA2_HUMAN,E9PQ36_HUMAN,E9PI74_HUMAN	.	UPI0000073CD3	SNV	SLC25A22,missense_variant,p.Gly110Asp,ENST00000528606,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000526152,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000533385,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000531214,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000527723,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000528936,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000320230,;SLC25A22,missense_variant,p.Gly106Asp,ENST00000531437,;SLC25A22,missense_variant,p.Gly135Asp,ENST00000481290,;SLC25A22,missense_variant,p.Gly110Asp,ENST00000531514,;SLC25A22,incomplete_terminal_codon_variant,p.%3D,ENST00000456706,;SLC25A22,downstream_gene_variant,,ENST00000531534,;CEND1,upstream_gene_variant,,ENST00000330106,;SLC25A22,downstream_gene_variant,,ENST00000532484,;SLC25A22,downstream_gene_variant,,ENST00000529066,;SLC25A22,downstream_gene_variant,,ENST00000530360,;CEND1,upstream_gene_variant,,ENST00000524587,;SLC25A22,3_prime_UTR_variant,,ENST00000527734,;SLC25A22,3_prime_UTR_variant,,ENST00000529351,;SLC25A22,downstream_gene_variant,,ENST00000524891,;SLC25A22,downstream_gene_variant,,ENST00000532361,;SLC25A22,downstream_gene_variant,,ENST00000525010,;SLC25A22,downstream_gene_variant,,ENST00000532459,;SLC25A22,downstream_gene_variant,,ENST00000527127,;SLC25A22,downstream_gene_variant,,ENST00000525644,;	811	71	89	SUCCESS
RIC3	79608	.	GRCh37	11	8159886	8159887	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	25	62	0	ENST00000309737.6:c.359dup	p.Lys122GlufsTer25	p.K122Efs*25	ENST00000309737		120	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS55742.1	359-360	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCCCTTTGA	NONE	.	.	Pfam_domain:PF15361,hmmpanther:PTHR21723:SF0,hmmpanther:PTHR21723	.	.	ENSP00000308820	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000309737	Transcript	.	.	ENSG00000166405	30338	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RIC3_HUMAN	RIC3	HGNC	F5GZ89_HUMAN	.	UPI00001B3DB4	insertion	RIC3,frameshift_variant,p.Lys122GlufsTer22,ENST00000425599,;RIC3,frameshift_variant,p.Lys73GlufsTer25,ENST00000539720,;RIC3,frameshift_variant,p.Lys122GlufsTer25,ENST00000531450,;RIC3,frameshift_variant,p.Lys122GlufsTer25,ENST00000309737,;RIC3,frameshift_variant,p.Lys122GlufsTer25,ENST00000343202,;RIC3,intron_variant,,ENST00000335425,;RIC3,downstream_gene_variant,,ENST00000419822,;RIC3,non_coding_transcript_exon_variant,,ENST00000529035,;RIC3,non_coding_transcript_exon_variant,,ENST00000524799,;RIC3,non_coding_transcript_exon_variant,,ENST00000530060,;RIC3,non_coding_transcript_exon_variant,,ENST00000529271,;RIC3,3_prime_UTR_variant,,ENST00000528463,;RIC3,intron_variant,,ENST00000526962,;	359-360	62	80	SUCCESS
CCDC81	60494	.	GRCh37	11	86126223	86126223	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	75	212	0	ENST00000445632.2:c.1559A>G	p.Glu520Gly	p.E520G	ENST00000445632	NM_001156474.1	520	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS53691.1	1559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGAAAAGC	NONE	.	.	hmmpanther:PTHR14362,hmmpanther:PTHR14362:SF2	.	.	ENSP00000415528	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000445632	Transcript	.	.	ENSG00000149201	26281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0.03)	.	CCD81_HUMAN	CCDC81	HGNC	B4DQN0_HUMAN	.	UPI0000E5BE97	SNV	CCDC81,missense_variant,p.Glu255Gly,ENST00000528728,;CCDC81,missense_variant,p.Glu520Gly,ENST00000445632,;CCDC81,missense_variant,p.Glu255Gly,ENST00000278487,;CCDC81,missense_variant,p.Glu430Gly,ENST00000354755,;CCDC81,non_coding_transcript_exon_variant,,ENST00000531587,;CCDC81,downstream_gene_variant,,ENST00000530845,;CCDC81,upstream_gene_variant,,ENST00000525247,;	1831	212	202	SUCCESS
TRIM66	9866	.	GRCh37	11	8642705	8642705	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs770753663	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	44	130	0	ENST00000299550.6:c.2891del	p.Pro964GlnfsTer4	p.P964Qfs*4	ENST00000299550	NM_014818.1	964	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	.	2978	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGCTGGGGGG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121	.	.	ENSP00000384876	.	17/22	.	.	.	.	.	.	.	.	rs770753663,COSM1357566	17/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	deletion	TRIM66,frameshift_variant,p.Pro993GlnfsTer4,ENST00000402157,;TRIM66,frameshift_variant,p.Pro964GlnfsTer4,ENST00000299550,;TRIM66,frameshift_variant,p.Pro96GlnfsTer4,ENST00000530502,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;TRIM66,upstream_gene_variant,,ENST00000525788,;TRIM66,upstream_gene_variant,,ENST00000529211,;	3419	130	167	SUCCESS
FZD4	8322	.	GRCh37	11	86663625	86663625	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	13	0	ENST00000531380.1:c.286-113A>T		p.*96*	ENST00000531380	NM_012193.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8279.1	.	MUTECT|MUSE	.	ACTTTTAAACC	NONE	.	.	.	.	.	ENSP00000434034	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000531380	Transcript	.	.	ENSG00000174804	4042	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FZD4_HUMAN	FZD4	HGNC	Q8TDT8_HUMAN	.	UPI00000701D4	SNV	PRSS23,3_prime_UTR_variant,,ENST00000533902,;FZD4,intron_variant,,ENST00000531380,;RP11-736K20.6,upstream_gene_variant,,ENST00000499504,;RP11-736K20.6,upstream_gene_variant,,ENST00000531827,;PRSS23,downstream_gene_variant,,ENST00000531521,;PRSS23,downstream_gene_variant,,ENST00000528769,;PRSS23,3_prime_UTR_variant,,ENST00000532234,;	.	13	9	SUCCESS
ST5	0	.	GRCh37	11	8751983	8751983	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	45	0	ENST00000534127.1:c.854T>C	p.Ile285Thr	p.I285T	ENST00000534127	NM_005418.3	285	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS7791.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGATCCGG	NONE	.	.	.	.	.	ENSP00000433528	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000534127	Transcript	.	.	ENSG00000166444	11350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	ST5_HUMAN	ST5	HGNC	E9PRS6_HUMAN,E9PQM5_HUMAN,E9PPS6_HUMAN,E9PPL2_HUMAN,E9PN93_HUMAN,E9PMP1_HUMAN,E9PMJ9_HUMAN,E9PME1_HUMAN,E9PM32_HUMAN,E9PLH6_HUMAN,E9PLD7_HUMAN,E9PLB6_HUMAN,E9PKM1_HUMAN,E9PKE0_HUMAN,E9PK36_HUMAN,E9PJY5_HUMAN,E9PJP0_HUMAN,E9PII1_HUMAN,E9PI72_HUMAN	.	UPI00001AECB8	SNV	ST5,missense_variant,p.Ile285Thr,ENST00000357665,;ST5,missense_variant,p.Ile285Thr,ENST00000534127,;ST5,missense_variant,p.Ile285Thr,ENST00000313726,;ST5,intron_variant,,ENST00000530438,;ST5,intron_variant,,ENST00000526057,;ST5,intron_variant,,ENST00000530580,;ST5,intron_variant,,ENST00000531093,;ST5,intron_variant,,ENST00000528196,;ST5,intron_variant,,ENST00000526757,;ST5,intron_variant,,ENST00000526126,;ST5,intron_variant,,ENST00000528527,;ST5,intron_variant,,ENST00000533225,;ST5,intron_variant,,ENST00000527510,;ST5,downstream_gene_variant,,ENST00000526828,;ST5,downstream_gene_variant,,ENST00000530938,;ST5,downstream_gene_variant,,ENST00000526241,;ST5,downstream_gene_variant,,ENST00000533471,;ST5,downstream_gene_variant,,ENST00000527516,;ST5,downstream_gene_variant,,ENST00000533016,;ST5,upstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000524757,;ST5,downstream_gene_variant,,ENST00000534248,;ST5,downstream_gene_variant,,ENST00000527392,;ST5,downstream_gene_variant,,ENST00000527347,;ST5,downstream_gene_variant,,ENST00000530959,;ST5,downstream_gene_variant,,ENST00000533580,;ST5,downstream_gene_variant,,ENST00000534665,;ST5,downstream_gene_variant,,ENST00000533681,;ST5,downstream_gene_variant,,ENST00000525169,;ST5,downstream_gene_variant,,ENST00000526155,;ST5,downstream_gene_variant,,ENST00000528523,;ST5,downstream_gene_variant,,ENST00000527473,;ST5,downstream_gene_variant,,ENST00000527930,;ST5,non_coding_transcript_exon_variant,,ENST00000526221,;ST5,intron_variant,,ENST00000532651,;ST5,intron_variant,,ENST00000533425,;ST5,downstream_gene_variant,,ENST00000529940,;ST5,downstream_gene_variant,,ENST00000534783,;ST5,intron_variant,,ENST00000532734,;ST5,upstream_gene_variant,,ENST00000527870,;	1240	45	38	SUCCESS
DENND5A	23258	.	GRCh37	11	9161225	9161225	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	28	0	ENST00000328194.3:c.3857A>C	p.Asp1286Ala	p.D1286A	ENST00000328194	NM_015213.3	1286	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS31423.1	3857	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGATGTCGATG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45	.	.	ENSP00000328524	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000328194	Transcript	.	.	ENSG00000184014	19344	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.24)	.	deleterious(0.01)	.	DEN5A_HUMAN	DENND5A	HGNC	B3KWN5_HUMAN	.	UPI00001C1F29	SNV	DENND5A,missense_variant,p.Asp1286Ala,ENST00000328194,;DENND5A,missense_variant,p.Asp194Ala,ENST00000533737,;DENND5A,missense_variant,p.Asp185Ala,ENST00000528725,;DENND5A,missense_variant,p.Asp629Ala,ENST00000527700,;DENND5A,3_prime_UTR_variant,,ENST00000530044,;DENND5A,downstream_gene_variant,,ENST00000525784,;SCUBE2,upstream_gene_variant,,ENST00000534295,;DENND5A,non_coding_transcript_exon_variant,,ENST00000529977,;DENND5A,downstream_gene_variant,,ENST00000531747,;	4178	28	36	SUCCESS
KIAA1731	0	.	GRCh37	11	93429945	93429945	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	29	146	0	ENST00000325212.6:c.1867A>G	p.Ile623Val	p.I623V	ENST00000325212		623	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS44708.1	1867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGATAACT	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.49)	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,missense_variant,p.Ile184Val,ENST00000531877,;KIAA1731,missense_variant,p.Ile623Val,ENST00000325212,;KIAA1731,missense_variant,p.Ile623Val,ENST00000411936,;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;KIAA1731,5_prime_UTR_variant,,ENST00000531700,;KIAA1731,upstream_gene_variant,,ENST00000530425,;KIAA1731,downstream_gene_variant,,ENST00000531622,;	2029	146	116	SUCCESS
MED17	9440	.	GRCh37	11	93530776	93530776	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	31	92	1	ENST00000251871.3:c.1219C>T	p.Leu407Phe	p.L407F	ENST00000251871	NM_004268.4	407	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS8295.1	1219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGACTTTCG	NONE	.	.	Pfam_domain:PF10156,hmmpanther:PTHR13114	.	.	ENSP00000251871	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000251871	Transcript	.	.	ENSG00000042429	2375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.07)	.	MED17_HUMAN	MED17	HGNC	E9PJZ4_HUMAN	.	UPI000013CD1D	SNV	MED17,missense_variant,p.Leu407Phe,ENST00000251871,;MED17,downstream_gene_variant,,ENST00000528786,;snoU13,downstream_gene_variant,,ENST00000459243,;RN7SL195P,upstream_gene_variant,,ENST00000582088,;MED17,non_coding_transcript_exon_variant,,ENST00000533367,;MED17,3_prime_UTR_variant,,ENST00000533133,;MED17,non_coding_transcript_exon_variant,,ENST00000531920,;MED17,downstream_gene_variant,,ENST00000525026,;MED17,downstream_gene_variant,,ENST00000507258,;MED17,upstream_gene_variant,,ENST00000525613,;	1506	93	108	SUCCESS
GPR83	10888	.	GRCh37	11	94113391	94113391	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	145	0	ENST00000243673.2:c.1196A>G	p.Asn399Ser	p.N399S	ENST00000243673	NM_016540.3	399	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8297.1	1196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGTTATTG	NONE	.	.	.	.	.	ENSP00000243673	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243673	Transcript	.	.	ENSG00000123901	4523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.88)	.	GPR83_HUMAN	GPR83	HGNC	Q9H011_HUMAN	.	UPI000013CB3F	SNV	GPR83,missense_variant,p.Asn357Ser,ENST00000539203,;GPR83,missense_variant,p.Asn399Ser,ENST00000243673,;	1368	145	123	SUCCESS
FUT4	2526	.	GRCh37	11	94277071	94277071	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	20	0	ENST00000358752.2:c.-229G>A		p.*77*	ENST00000358752	NM_002033.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8301.1	.	MUTECT|MUSE	.	AGGAAGCCGAC	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,5_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,downstream_gene_variant,,ENST00000536540,;RP11-867G2.8,downstream_gene_variant,,ENST00000537874,;PIWIL4,5_prime_UTR_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;	55	20	17	SUCCESS
IPO7	10527	.	GRCh37	11	9435806	9435806	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	82	0	ENST00000379719.3:c.489del	p.Lys163AsnfsTer9	p.K163Nfs*9	ENST00000379719	NM_006391.2	162	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS31425.1	484	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGTATAAAAAA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	deletion	IPO7,frameshift_variant,p.Lys101AsnfsTer9,ENST00000527431,;IPO7,frameshift_variant,p.Lys163AsnfsTer9,ENST00000379719,;IPO7,non_coding_transcript_exon_variant,,ENST00000528833,;IPO7,downstream_gene_variant,,ENST00000533233,;	626	82	120	SUCCESS
SRSF8	10929	.	GRCh37	11	94800490	94800490	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	87	263	0	ENST00000529911.1:c.100T>A	p.Phe34Ile	p.F34I	ENST00000529911	NM_032102.3	34	Ttc/Atc	0	.	.	.	.	.	A	F/I	polymorphic_pseudogene	YES	.	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTTCGAG	NONE	.	.	.	.	.	ENSP00000475842	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529911	Transcript	.	.	ENSG00000271885	16988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	.	SRSF8	Clone_based_vega_gene	.	.	.	SNV	SRSF8,missense_variant,p.Phe34Ile,ENST00000529911,;SRSF8,non_coding_transcript_exon_variant,,ENST00000446101,;	130	263	232	SUCCESS
CEP57	9702	.	GRCh37	11	95562468	95562468	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	7	122	0	ENST00000325542.5:c.1245A>G	p.Ile415Met	p.I415M	ENST00000325542	NM_001243776.1	415	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS8304.1	1245	MUTECT|MUSE	.	CAAATAACTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF11,Pfam_domain:PF06657	.	.	ENSP00000317902	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000325542	Transcript	.	.	ENSG00000166037	30794	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CEP57_HUMAN	CEP57	HGNC	F5H1B0_HUMAN,F5GYW0_HUMAN	.	UPI0000070D0B	SNV	CEP57,missense_variant,p.Ile406Met,ENST00000541150,;CEP57,missense_variant,p.Ile205Met,ENST00000535224,;CEP57,missense_variant,p.Ile415Met,ENST00000325542,;CEP57,missense_variant,p.Ile389Met,ENST00000325486,;CEP57,missense_variant,p.Ile388Met,ENST00000537677,;MTMR2,downstream_gene_variant,,ENST00000346299,;CEP57,downstream_gene_variant,,ENST00000537093,;MTMR2,downstream_gene_variant,,ENST00000393223,;MTMR2,downstream_gene_variant,,ENST00000352297,;MTMR2,downstream_gene_variant,,ENST00000409459,;CEP57,3_prime_UTR_variant,,ENST00000540830,;CEP57,3_prime_UTR_variant,,ENST00000539855,;CEP57,non_coding_transcript_exon_variant,,ENST00000538158,;	1483	122	139	SUCCESS
MTMR2	8898	.	GRCh37	11	95580973	95580973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	40	149	0	ENST00000346299.5:c.1084T>A	p.Ser362Thr	p.S362T	ENST00000346299	NM_016156.5	362	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS8305.1	1084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGATTCTC	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF40,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000345752	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000346299	Transcript	.	.	ENSG00000087053	7450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	MTMR2_HUMAN	MTMR2	HGNC	C9JEX3_HUMAN	.	UPI00001AF36F	SNV	MTMR2,missense_variant,p.Ser290Thr,ENST00000444541,;MTMR2,missense_variant,p.Ser290Thr,ENST00000393223,;MTMR2,missense_variant,p.Ser290Thr,ENST00000352297,;MTMR2,missense_variant,p.Ser290Thr,ENST00000409459,;MTMR2,missense_variant,p.Ser362Thr,ENST00000346299,;MTMR2,downstream_gene_variant,,ENST00000484818,;	1425	149	134	SUCCESS
CCDC82	79780	.	GRCh37	11	96092336	96092336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	101	1	ENST00000278520.5:c.1387A>G	p.Thr463Ala	p.T463A	ENST00000278520		463	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8307.1	1387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGTGAACA	NONE	.	.	hmmpanther:PTHR14689,hmmpanther:PTHR14689:SF1	.	.	ENSP00000278520	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000278520	Transcript	.	.	ENSG00000149231	26282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.7)	.	CCD82_HUMAN	CCDC82	HGNC	F5H777_HUMAN,E9PMD6_HUMAN	.	UPI000007367A	SNV	CCDC82,missense_variant,p.Thr463Ala,ENST00000542662,;CCDC82,missense_variant,p.Thr463Ala,ENST00000278520,;CCDC82,missense_variant,p.Thr463Ala,ENST00000423339,;CCDC82,non_coding_transcript_exon_variant,,ENST00000545264,;	1816	102	77	SUCCESS
AP2A2	161	.	GRCh37	11	972110	972110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1216163460	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	46	0	ENST00000448903.2:c.328C>T	p.Arg110Cys	p.R110C	ENST00000448903	NM_012305.3	110	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS44512.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCGCCTG	NONE	.	.	hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371	.	.	ENSP00000413234	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000448903	Transcript	.	.	ENSG00000183020	562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0.03)	.	AP2A2_HUMAN	AP2A2	HGNC	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN	.	UPI0000124FF5	SNV	AP2A2,missense_variant,p.Arg104Cys,ENST00000527024,;AP2A2,missense_variant,p.Arg110Cys,ENST00000534328,;AP2A2,missense_variant,p.Arg34Cys,ENST00000524559,;AP2A2,missense_variant,p.Arg116Cys,ENST00000531548,;AP2A2,missense_variant,p.Arg34Cys,ENST00000530801,;AP2A2,missense_variant,p.Arg110Cys,ENST00000332231,;AP2A2,missense_variant,p.Arg100Cys,ENST00000534485,;AP2A2,missense_variant,p.Arg34Cys,ENST00000526753,;AP2A2,missense_variant,p.Arg110Cys,ENST00000448903,;AP2A2,intron_variant,,ENST00000525796,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529818,;AP2A2,intron_variant,,ENST00000528195,;AP2A2,downstream_gene_variant,,ENST00000529858,;AP2A2,missense_variant,p.Arg110Cys,ENST00000528815,;	469	46	60	SUCCESS
SBF2	81846	.	GRCh37	11	9830557	9830557	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	222	90	337	0	ENST00000256190.8:c.4156-8T>C		p.X1386_splice	ENST00000256190	NM_030962.3	1386		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31427.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGACAGGA	NONE	.	.	.	.	.	ENSP00000256190	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256190	Transcript	.	.	ENSG00000133812	2135	.	.	LOW	30/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMRD_HUMAN	SBF2	HGNC	H0YDZ1_HUMAN	.	UPI00000622D5	SNV	SBF2,splice_region_variant,,ENST00000256190,;SBF2,splice_region_variant,,ENST00000530741,;SBF2-AS1,non_coding_transcript_exon_variant,,ENST00000498905,;SBF2-AS1,downstream_gene_variant,,ENST00000534671,;SBF2-AS1,downstream_gene_variant,,ENST00000525636,;SBF2,non_coding_transcript_exon_variant,,ENST00000525697,;SBF2,downstream_gene_variant,,ENST00000524961,;SBF2,splice_region_variant,,ENST00000528478,;SBF2,downstream_gene_variant,,ENST00000533584,;	.	337	313	SUCCESS
SCYL2	55681	.	GRCh37	12	100708368	100708368	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	181	540	0	ENST00000360820.2:c.1071A>G	p.Pro357=	p.P357=	ENST00000360820	NM_017988.4	357	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9076.1	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAAAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF6,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354061	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000360820	Transcript	.	.	ENSG00000136021	19286	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCYL2_HUMAN	SCYL2	HGNC	F8VSC5_HUMAN,F8VPW3_HUMAN	.	UPI000004FD59	SNV	SCYL2,synonymous_variant,p.%3D,ENST00000360820,;SCYL2,synonymous_variant,p.%3D,ENST00000549687,;SCYL2,downstream_gene_variant,,ENST00000548392,;SCYL2,upstream_gene_variant,,ENST00000553148,;SCYL2,upstream_gene_variant,,ENST00000550251,;	1508	540	448	SUCCESS
UTP20	27340	.	GRCh37	12	101777019	101777019	+	synonymous_variant	Silent	SNP	G	G	A	rs538781494	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	11	117	0	ENST00000261637.4:c.7857G>A	p.Leu2619=	p.L2619=	ENST00000261637	NM_014503.2	2619	ctG/ctA	0	.	A:0	.	A:0	.	A	L	protein_coding	YES	CCDS9081.1	7857	MUTECT|MUSE	.	ACGCTGCTGTG	NONE	by1000G	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695	A:0.001	.	ENSP00000261637	A:0	59/62	.	.	.	.	.	.	.	.	rs538781494	59/62	PASS	ENST00000261637	Transcript	.	A:0.0002	ENSG00000120800	17897	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,synonymous_variant,p.%3D,ENST00000261637,;	8031	117	142	SUCCESS
PMCH	5367	.	GRCh37	12	102591388	102591388	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	85	0	ENST00000329406.4:c.161C>T	p.Ala54Val	p.A54V	ENST00000329406	NM_002674.2	54	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31885.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGCAGTG	NONE	.	.	hmmpanther:PTHR12091,hmmpanther:PTHR12091:SF0	.	.	ENSP00000332225	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000329406	Transcript	.	.	ENSG00000183395	9109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.24)	.	MCH_HUMAN	PMCH	HGNC	.	.	UPI000006D1DF	SNV	PMCH,missense_variant,p.Ala54Val,ENST00000329406,;PARPBP,downstream_gene_variant,,ENST00000358383,;PARPBP,downstream_gene_variant,,ENST00000543784,;PARPBP,downstream_gene_variant,,ENST00000378128,;PARPBP,downstream_gene_variant,,ENST00000541394,;PARPBP,downstream_gene_variant,,ENST00000417507,;PARPBP,downstream_gene_variant,,ENST00000327680,;PARPBP,downstream_gene_variant,,ENST00000392911,;PARPBP,downstream_gene_variant,,ENST00000412715,;PARPBP,downstream_gene_variant,,ENST00000535811,;PARPBP,downstream_gene_variant,,ENST00000457614,;	236	85	78	SUCCESS
HCFC2	29915	.	GRCh37	12	104476618	104476618	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	126	0	ENST00000229330.4:c.1002T>C	p.Asp334=	p.D334=	ENST00000229330	NM_013320.2	334	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS9097.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGGCTA	NONE	.	.	hmmpanther:PTHR23244:SF288,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13854,Superfamily_domains:0052715	.	.	ENSP00000229330	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000229330	Transcript	.	.	ENSG00000111727	24972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCFC2_HUMAN	HCFC2	HGNC	F8VU09_HUMAN	.	UPI000006CF31	SNV	HCFC2,synonymous_variant,p.%3D,ENST00000229330,;HCFC2,downstream_gene_variant,,ENST00000550444,;HCFC2,synonymous_variant,p.%3D,ENST00000544223,;HCFC2,downstream_gene_variant,,ENST00000547194,;	1106	127	122	SUCCESS
KIAA1033	0	.	GRCh37	12	105538180	105538180	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs1236210910	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	62	204	0	ENST00000332180.5:c.2132del	p.Phe711SerfsTer3	p.F711Sfs*3	ENST00000332180	NM_015275.1	709	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS41826.1	2126	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCTCTTTTTT	NONE	.	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14744	.	.	ENSP00000328062	.	21/33	.	.	.	.	.	.	.	.	COSM1358375	21/33	PASS	ENST00000332180	Transcript	.	.	ENSG00000136051	29174	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	deletion	KIAA1033,frameshift_variant,p.Phe711SerfsTer3,ENST00000332180,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,upstream_gene_variant,,ENST00000548534,;KIAA1033,upstream_gene_variant,,ENST00000550613,;	2213	204	243	SUCCESS
CMKLR1	1240	.	GRCh37	12	108685651	108685651	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	127	0	ENST00000312143.7:c.1089T>C	p.Thr363=	p.T363=	ENST00000312143	NM_001142344.1	363	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS44965.1	1089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGAAGTCCT	NONE	.	.	Prints_domain:PR01126,hmmpanther:PTHR24227:SF2,hmmpanther:PTHR24227	.	.	ENSP00000311733	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312143	Transcript	.	.	ENSG00000174600	2121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CML1_HUMAN	CMKLR1	HGNC	F8VYN7_HUMAN,F8VSC8_HUMAN	.	UPI0000127BD4	SNV	CMKLR1,synonymous_variant,p.%3D,ENST00000312143,;CMKLR1,synonymous_variant,p.%3D,ENST00000397688,;CMKLR1,synonymous_variant,p.%3D,ENST00000552995,;CMKLR1,synonymous_variant,p.%3D,ENST00000412676,;CMKLR1,synonymous_variant,p.%3D,ENST00000550402,;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;	1453	127	108	SUCCESS
RBM19	9904	.	GRCh37	12	114397139	114397139	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1365747008	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	75	0	ENST00000261741.5:c.449C>T	p.Ala150Val	p.A150V	ENST00000261741	NM_016196.3	150	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9172.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGCCCAA	NONE	.	.	.	.	.	ENSP00000442053	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000545145	Transcript	.	.	ENSG00000122965	29098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.03)	.	RBM19_HUMAN	RBM19	HGNC	.	.	UPI000013D1EC	SNV	RBM19,missense_variant,p.Ala150Val,ENST00000545145,;RBM19,missense_variant,p.Ala150Val,ENST00000392561,;RBM19,missense_variant,p.Ala150Val,ENST00000261741,;RBM19,intron_variant,,ENST00000546876,;	528	75	76	SUCCESS
MED13L	23389	.	GRCh37	12	116420407	116420407	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs151181388	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	111	0	ENST00000281928.3:c.4957G>A	p.Val1653Ile	p.V1653I	ENST00000281928	NM_015335.4	1653	Gtt/Att	0	T:0.0002	.	.	.	.	T	V/I	protein_coding	YES	CCDS9177.1	4957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAACACTGG	NONE	byCluster	.	hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	T:0	ENSP00000281928	.	22/31	.	.	.	.	.	.	.	.	rs151181388	22/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	deleterious(0.02)	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,missense_variant,p.Val108Ile,ENST00000549786,;MED13L,missense_variant,p.Val1653Ile,ENST00000281928,;MED13L,upstream_gene_variant,,ENST00000552340,;MED13L,upstream_gene_variant,,ENST00000548694,;	5164	111	113	SUCCESS
SUDS3	64426	.	GRCh37	12	118848915	118848915	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779069152	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	58	0	ENST00000543473.1:c.841G>A	p.Asp281Asn	p.D281N	ENST00000543473	NM_022491.2	281	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44993.1	841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGACAAC	NONE	.	.	hmmpanther:PTHR21964,hmmpanther:PTHR21964:SF11	.	.	ENSP00000443988	.	11/12	.	.	.	.	.	.	.	.	rs779069152	11/12	PASS	ENST00000543473	Transcript	.	.	ENSG00000111707	29545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	deleterious(0)	.	SDS3_HUMAN	SUDS3	HGNC	Q52LB7_HUMAN,Q2M2F3_HUMAN	.	UPI00001C1F43	SNV	SUDS3,missense_variant,p.Asp282Asn,ENST00000397564,;SUDS3,missense_variant,p.Asp281Asn,ENST00000543473,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541591,;SUDS3,non_coding_transcript_exon_variant,,ENST00000360286,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541280,;	1153	58	64	SUCCESS
CIT	11113	.	GRCh37	12	120151400	120151400	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370080702	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	89	0	ENST00000261833.7:c.4234G>A	p.Gly1412Ser	p.G1412S	ENST00000261833	NM_007174.2	1412	Ggc/Agc	0	T:0	.	.	.	.	T	G/S	protein_coding	YES	CCDS55891.1	4360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCGCAGG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF57889,PIRSF_domain:PIRSF038145,Gene3D:3.30.60.20,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26	.	T:0.0001	ENSP00000376306	.	34/48	.	.	.	.	.	.	.	.	rs370080702,COSM70193	34/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.878)	.	deleterious(0)	0,1	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Gly1454Ser,ENST00000392521,;CIT,missense_variant,p.Gly1412Ser,ENST00000261833,;CIT,missense_variant,p.Gly1025Ser,ENST00000392520,;MIR1178,downstream_gene_variant,,ENST00000408396,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,upstream_gene_variant,,ENST00000543324,;CIT,non_coding_transcript_exon_variant,,ENST00000543239,;CIT,non_coding_transcript_exon_variant,,ENST00000536008,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,upstream_gene_variant,,ENST00000538073,;CIT,upstream_gene_variant,,ENST00000544800,;CIT,downstream_gene_variant,,ENST00000544588,;	4416	89	89	SUCCESS
UNC119B	84747	.	GRCh37	12	121157763	121157763	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	70	0	ENST00000344651.4:c.684C>A	p.Asp228Glu	p.D228E	ENST00000344651	NM_001080533.2	228	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS31914.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACAGCTT	NONE	.	.	hmmpanther:PTHR12951:SF3,hmmpanther:PTHR12951,Pfam_domain:PF05351,Gene3D:1kshB00,Superfamily_domains:SSF81296	.	.	ENSP00000344942	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000344651	Transcript	.	.	ENSG00000175970	16488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	U119B_HUMAN	UNC119B	HGNC	.	.	UPI00001FBCE1	SNV	UNC119B,missense_variant,p.Asp228Glu,ENST00000344651,;MIR4700,upstream_gene_variant,,ENST00000578311,;RP11-173P15.5,downstream_gene_variant,,ENST00000544939,;UNC119B,downstream_gene_variant,,ENST00000539658,;	724	70	84	SUCCESS
SETD1B	23067	.	GRCh37	12	122247883	122247883	+	synonymous_variant	Silent	SNP	C	C	T	rs547856709	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	36	75	0	ENST00000604567.1:c.1032C>T	p.Ala344=	p.A344=	ENST00000604567		344	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS53838.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCGCTTT	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	T:0.001	.	ENSP00000267197	T:0	5/17	.	.	.	.	.	.	.	.	rs547856709	5/17	PASS	ENST00000267197	Transcript	.	T:0.0002	ENSG00000139718	29187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,synonymous_variant,p.%3D,ENST00000604567,;SETD1B,synonymous_variant,p.%3D,ENST00000542440,;SETD1B,synonymous_variant,p.%3D,ENST00000267197,;	1038	75	74	SUCCESS
DIABLO	56616	.	GRCh37	12	122693101	122693101	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781358968	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	40	0	ENST00000443649.3:c.547G>A	p.Ala183Thr	p.A183T	ENST00000443649	NM_019887.5	183	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9228.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGGTTA	BUFFER|p.T182N|c.545C>A|6	.	.	Superfamily_domains:SSF46984,Gene3D:1.20.58.70,Pfam_domain:PF09057,hmmpanther:PTHR32247	.	.	ENSP00000398495	.	7/7	.	.	.	.	.	.	.	.	rs781358968	7/7	PASS	ENST00000443649	Transcript	.	.	ENSG00000184047	21528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.09)	.	DBLOH_HUMAN	DIABLO	HGNC	F5H796_HUMAN,F5H0Q4_HUMAN,F5GYH3_HUMAN,F5GX50_HUMAN	.	UPI0000000CBE	SNV	DIABLO,missense_variant,p.Ala110Thr,ENST00000540535,;DIABLO,missense_variant,p.Ala110Thr,ENST00000474004,;DIABLO,missense_variant,p.Ala110Thr,ENST00000541656,;DIABLO,missense_variant,p.Ala139Thr,ENST00000353548,;DIABLO,missense_variant,p.Ala130Thr,ENST00000464942,;DIABLO,missense_variant,p.Ala139Thr,ENST00000413918,;DIABLO,missense_variant,p.Ala86Thr,ENST00000541273,;DIABLO,missense_variant,p.Ala130Thr,ENST00000267169,;DIABLO,missense_variant,p.Ala183Thr,ENST00000443649,;B3GNT4,3_prime_UTR_variant,,ENST00000546192,;DIABLO,3_prime_UTR_variant,,ENST00000439489,;B3GNT4,downstream_gene_variant,,ENST00000535274,;DIABLO,downstream_gene_variant,,ENST00000446652,;B3GNT4,downstream_gene_variant,,ENST00000324189,;B3GNT4,non_coding_transcript_exon_variant,,ENST00000545141,;B3GNT4,downstream_gene_variant,,ENST00000538257,;B3GNT4,downstream_gene_variant,,ENST00000537991,;DIABLO,3_prime_UTR_variant,,ENST00000342392,;RP11-512M8.5,3_prime_UTR_variant,,ENST00000535844,;	1365	40	43	SUCCESS
LRP6	4040	.	GRCh37	12	12300444	12300444	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143966208	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	56	167	1	ENST00000261349.4:c.3253C>T	p.Arg1085Trp	p.R1085W	ENST00000261349	NM_002336.2	1085	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS8647.1	3253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGTTCAA	NONE	byCluster	.	Superfamily_domains:SSF63825,SMART_domains:SM00135,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	.	A:0.0001	ENSP00000261349	.	15/23	.	.	.	.	.	.	.	.	rs143966208,COSM1476268	15/23	PASS	ENST00000261349	Transcript	.	.	ENSG00000070018	6698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	LRP6_HUMAN	LRP6	HGNC	F5H0Z3_HUMAN,B3KQA9_HUMAN	.	UPI00001FB66C	SNV	LRP6,missense_variant,p.Arg1085Trp,ENST00000543091,;LRP6,missense_variant,p.Arg1085Trp,ENST00000261349,;LRP6,missense_variant,p.Arg950Trp,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;	3330	168	165	SUCCESS
EIF2B1	1967	.	GRCh37	12	124115056	124115056	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs962257544	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1488	28	1654	1	ENST00000424014.2:c.140C>T	p.Ala47Val	p.A47V	ENST00000424014	NM_001414.3	47	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31924.1	140	MUTECT|MUSE	.	GATTCGCCCTC	NONE	.	.	hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF18,Pfam_domain:PF01008,Superfamily_domains:SSF100950	.	.	ENSP00000416250	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000424014	Transcript	.	.	ENSG00000111361	3257	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.2)	.	EI2BA_HUMAN	EIF2B1	HGNC	.	.	UPI0000129AAE	SNV	EIF2B1,missense_variant,p.Ala47Val,ENST00000537073,;EIF2B1,missense_variant,p.Ala34Val,ENST00000539951,;EIF2B1,missense_variant,p.Ala47Val,ENST00000424014,;EIF2B1,missense_variant,p.Ala63Val,ENST00000534960,;GTF2H3,upstream_gene_variant,,ENST00000538845,;GTF2H3,upstream_gene_variant,,ENST00000543341,;GTF2H3,upstream_gene_variant,,ENST00000228955,;GTF2H3,upstream_gene_variant,,ENST00000536375,;GTF2H3,upstream_gene_variant,,ENST00000539994,;EIF2B1,non_coding_transcript_exon_variant,,ENST00000543940,;EIF2B1,non_coding_transcript_exon_variant,,ENST00000452159,;GTF2H3,upstream_gene_variant,,ENST00000542279,;GTF2H3,upstream_gene_variant,,ENST00000537368,;GTF2H3,upstream_gene_variant,,ENST00000537695,;GTF2H3,upstream_gene_variant,,ENST00000543005,;	349	1655	1516	SUCCESS
DNAH10	196385	.	GRCh37	12	124403305	124403305	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs752870523	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	20	68	0	ENST00000409039.3:c.10966del	p.Ala3656ProfsTer13	p.A3656Pfs*13	ENST00000409039	NM_207437.3	3654	aGg/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS9255.2	10961	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGAGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	64/78	.	.	.	.	.	.	.	.	rs752870523	64/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	deletion	DNAH10,frameshift_variant,p.Ala3656ProfsTer13,ENST00000409039,;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,non_coding_transcript_exon_variant,,ENST00000542348,;	10986	68	101	SUCCESS
MMP17	4326	.	GRCh37	12	132323183	132323183	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	35	83	0	ENST00000360564.1:c.319A>C	p.Thr107Pro	p.T107P	ENST00000360564	NM_016155.4	107	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS31927.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAACCCCA	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF118,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000353767	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000360564	Transcript	.	.	ENSG00000198598	7163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	MMP17_HUMAN	MMP17	HGNC	F5H881_HUMAN,F5H249_HUMAN,F5H209_HUMAN,F5GZA7_HUMAN,F5GWR3_HUMAN	.	UPI00001AF305	SNV	MMP17,missense_variant,p.Thr3Pro,ENST00000545671,;MMP17,missense_variant,p.Thr23Pro,ENST00000535291,;MMP17,missense_variant,p.Thr23Pro,ENST00000545790,;MMP17,missense_variant,p.Thr107Pro,ENST00000360564,;MMP17,upstream_gene_variant,,ENST00000534865,;MMP17,upstream_gene_variant,,ENST00000535182,;MMP17,upstream_gene_variant,,ENST00000542142,;	421	83	78	SUCCESS
FBRSL1	57666	.	GRCh37	12	133151138	133151138	+	synonymous_variant	Silent	SNP	G	G	A	rs778424660	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	79	0	ENST00000434748.2:c.1818G>A	p.Gln606=	p.Q606=	ENST00000434748	NM_001142641.1	606	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS45010.1	1818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGCAGAA	NONE	.	.	hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF20,Pfam_domain:PF15336	.	.	ENSP00000396160	.	12/17	.	.	.	.	.	.	.	.	rs778424660	12/17	PASS	ENST00000434748	Transcript	.	.	ENSG00000112787	29308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBSL_HUMAN	FBRSL1	HGNC	.	.	UPI00018830C3	SNV	FBRSL1,synonymous_variant,p.%3D,ENST00000261673,;FBRSL1,synonymous_variant,p.%3D,ENST00000434748,;FBRSL1,non_coding_transcript_exon_variant,,ENST00000537804,;FBRSL1,downstream_gene_variant,,ENST00000543453,;FBRSL1,downstream_gene_variant,,ENST00000539264,;FBRSL1,downstream_gene_variant,,ENST00000536075,;FBRSL1,downstream_gene_variant,,ENST00000543360,;FBRSL1,non_coding_transcript_exon_variant,,ENST00000542306,;	2838	79	60	SUCCESS
RERG	85004	.	GRCh37	12	15262428	15262428	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	52	157	0	ENST00000256953.2:c.216G>A	p.Gly72=	p.G72=	ENST00000256953	NM_032918.2	72	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8673.1	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCCCCTC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF228,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	.	.	ENSP00000256953	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000256953	Transcript	.	.	ENSG00000134533	15980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RERG_HUMAN	RERG	HGNC	F5GYR1_HUMAN	.	UPI000004C2A7	SNV	RERG,synonymous_variant,p.%3D,ENST00000538313,;RERG,synonymous_variant,p.%3D,ENST00000256953,;RERG,synonymous_variant,p.%3D,ENST00000536465,;RERG,synonymous_variant,p.%3D,ENST00000545567,;RERG,synonymous_variant,p.%3D,ENST00000546331,;RERG,downstream_gene_variant,,ENST00000537647,;RERG-IT1,downstream_gene_variant,,ENST00000539734,;	553	157	130	SUCCESS
SLCO1B3	28234	.	GRCh37	12	20968682	20968682	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	28	71	0	ENST00000261196.2:c.10C>A	p.His4Asn	p.H4N	ENST00000261196		4	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	.	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAACATCAA	NONE	.	.	TIGRFAM_domain:TIGR00805	.	.	ENSP00000441269	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000540229	Transcript	.	.	ENSG00000257046	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.68)	.	.	LST3	Uniprot_gn	Q5JAR4_HUMAN,F5H8K0_HUMAN	.	UPI00004A0698	SNV	SLCO1B7,missense_variant,p.His4Asn,ENST00000554957,;SLCO1B3,missense_variant,p.His4Asn,ENST00000553473,;LST3,missense_variant,p.His4Asn,ENST00000540229,;SLCO1B3,missense_variant,p.His4Asn,ENST00000540853,;LST3,missense_variant,p.His4Asn,ENST00000381541,;SLCO1B3,missense_variant,p.His4Asn,ENST00000261196,;SLCO1B3,missense_variant,p.His4Asn,ENST00000381545,;	75	71	49	SUCCESS
BHLHE41	79365	.	GRCh37	12	26275589	26275590	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCT	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	43	0	ENST00000242728.4:c.858_859insAGC	p.Gly286_Gly287insSer	p.G286_G287insS	ENST00000242728	NM_030762.2	286	-/AGC	0	.	.	.	.	.	GCT	-/S	protein_coding	YES	CCDS8706.1	858-859	INDELOCATOR|VARSCANI	.	GCCGCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10985:SF76,hmmpanther:PTHR10985	.	.	ENSP00000242728	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000242728	Transcript	.	.	ENSG00000123095	16617	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BHE41_HUMAN	BHLHE41	HGNC	.	.	UPI0000052B52	insertion	BHLHE41,inframe_insertion,p.Gly286_Gly287insSer,ENST00000242728,;SSPN,intron_variant,,ENST00000538142,;RP11-283G6.3,downstream_gene_variant,,ENST00000545819,;RP11-283G6.3,downstream_gene_variant,,ENST00000535914,;SSPN,intron_variant,,ENST00000534829,;BHLHE41,downstream_gene_variant,,ENST00000394326,;BHLHE41,downstream_gene_variant,,ENST00000541271,;	1206-1207	43	25	SUCCESS
CAPRIN2	65981	.	GRCh37	12	30863317	30863317	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772253137	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	85	0	ENST00000298892.5:c.2753G>A	p.Arg918His	p.R918H	ENST00000298892	NM_023925.3	918	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8720.1	2753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTACGGGAG	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5	.	.	ENSP00000298892	.	17/17	.	.	.	.	.	.	.	.	rs772253137	17/17	PASS	ENST00000298892	Transcript	.	.	ENSG00000110888	21259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CAPR2_HUMAN	CAPRIN2	HGNC	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN	.	UPI000007080A	SNV	CAPRIN2,missense_variant,p.Arg634His,ENST00000308433,;CAPRIN2,missense_variant,p.Arg968His,ENST00000251071,;CAPRIN2,missense_variant,p.Arg918His,ENST00000298892,;CAPRIN2,3_prime_UTR_variant,,ENST00000433722,;CAPRIN2,3_prime_UTR_variant,,ENST00000395805,;CAPRIN2,3_prime_UTR_variant,,ENST00000417045,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;	3504	85	100	SUCCESS
TEAD4	7004	.	GRCh37	12	3131073	3131073	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762656664	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	60	144	0	ENST00000359864.2:c.787G>A	p.Glu263Lys	p.E263K	ENST00000359864	NM_003213.3	263	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31729.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGAAGCC	NONE	.	.	hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF2,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500722	.	.	ENSP00000352926	.	10/13	.	.	.	.	.	.	.	.	rs762656664,COSM938723	10/13	PASS	ENST00000359864	Transcript	.	.	ENSG00000197905	11717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	.	TEAD4	HGNC	Q53GI4_HUMAN,H0YGS2_HUMAN,H0YFK0_HUMAN,H0YFF9_HUMAN,D3DUQ6_HUMAN	.	UPI000013FEB3	SNV	TEAD4,missense_variant,p.Glu186Lys,ENST00000544666,;TEAD4,missense_variant,p.Glu134Lys,ENST00000397122,;TEAD4,missense_variant,p.Glu263Lys,ENST00000359864,;TEAD4,missense_variant,p.Glu220Lys,ENST00000358409,;TEAD4,downstream_gene_variant,,ENST00000543035,;TEAD4,downstream_gene_variant,,ENST00000443986,;	977	144	131	SUCCESS
FGD4	121512	.	GRCh37	12	32793225	32793225	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	38	129	0	ENST00000427716.2:c.2059G>A	p.Ala687Thr	p.A687T	ENST00000427716	NM_139241.2	687	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8727.1	2059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCCACC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000394487	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000427716	Transcript	.	.	ENSG00000139132	19125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.84)	.	FGD4_HUMAN	FGD4	HGNC	J3KSS3_HUMAN,F8W1R0_HUMAN	.	UPI000004CCA6	SNV	FGD4,missense_variant,p.Ala594Thr,ENST00000546442,;FGD4,missense_variant,p.Ala772Thr,ENST00000531134,;FGD4,missense_variant,p.Ala687Thr,ENST00000427716,;FGD4,missense_variant,p.Ala799Thr,ENST00000525053,;FGD4,missense_variant,p.Ala824Thr,ENST00000534526,;FGD4,downstream_gene_variant,,ENST00000266482,;FGD4,3_prime_UTR_variant,,ENST00000494977,;FGD4,3_prime_UTR_variant,,ENST00000493087,;FGD4,3_prime_UTR_variant,,ENST00000551984,;FGD4,downstream_gene_variant,,ENST00000395740,;	2483	129	104	SUCCESS
SLC2A13	114134	.	GRCh37	12	40441899	40441899	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	121	0	ENST00000280871.4:c.670A>C	p.Ser224Arg	p.S224R	ENST00000280871	NM_052885.3	224	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS8736.2	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACTTGCAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF303,hmmpanther:PTHR24063,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473	.	.	ENSP00000280871	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000280871	Transcript	.	.	ENSG00000151229	15956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	MYCT_HUMAN	SLC2A13	HGNC	.	.	UPI000066D913	SNV	SLC2A13,missense_variant,p.Ser224Arg,ENST00000380858,;SLC2A13,missense_variant,p.Ser224Arg,ENST00000280871,;	721	121	81	SUCCESS
LRRK2	120892	.	GRCh37	12	40677697	40677697	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs199929255	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	43	94	1	ENST00000298910.7:c.2262T>A	p.Ser754Arg	p.S754R	ENST00000298910	NM_198578.3	754	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS31774.1	2262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGTCCCAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:1.25.40.20	.	.	ENSP00000298910	.	19/51	.	.	.	.	.	.	.	.	rs199929255	19/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.691)	.	tolerated(0.12)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Ser754Arg,ENST00000343742,;LRRK2,missense_variant,p.Ser502Arg,ENST00000416796,;LRRK2,missense_variant,p.Ser754Arg,ENST00000298910,;AC084290.2,upstream_gene_variant,,ENST00000434995,;	2320	95	100	SUCCESS
IRAK4	51135	.	GRCh37	12	44161948	44161948	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377584435	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	36	195	0	ENST00000551736.1:c.34C>T	p.Arg12Cys	p.R12C	ENST00000551736	NM_001114182.2	12	Cgc/Tgc	0	T:0,T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS8744.1	34	RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGTGCGCTGC	SITE|p.R12C|c.34C>T|4,SITE|p.R12C|c.34C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF0,Gene3D:1.10.533.10,PIRSF_domain:PIRSF038189,Superfamily_domains:SSF47986	.	T:0.0001,T:0.0001	ENSP00000390651	.	2/12	.	.	.	.	.	.	.	.	rs377584435,CM078314,IRAK4base_D0051:g.11082C>T,COSM1361619,COSM939362	2/12	PASS	ENST00000448290	Transcript	.	.	ENSG00000198001	17967	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,1,1	IRAK4_HUMAN	IRAK4	HGNC	Q69FE3_HUMAN,F8VW24_HUMAN,F8VR40_HUMAN	.	UPI000004ABE6	SNV	IRAK4,missense_variant,p.Arg12Cys,ENST00000448290,;IRAK4,missense_variant,p.Arg12Cys,ENST00000550616,;IRAK4,missense_variant,p.Arg12Cys,ENST00000551736,;IRAK4,5_prime_UTR_variant,,ENST00000431837,;IRAK4,intron_variant,,ENST00000440781,;IRAK4,missense_variant,p.Arg12Cys,ENST00000547101,;IRAK4,missense_variant,p.Arg12Cys,ENST00000550361,;IRAK4,missense_variant,p.Arg12Cys,ENST00000552309,;IRAK4,missense_variant,p.Arg12Cys,ENST00000547521,;IRAK4,missense_variant,p.Arg12Cys,ENST00000550615,;IRAK4,missense_variant,p.Arg12Cys,ENST00000550386,;IRAK4,non_coding_transcript_exon_variant,,ENST00000546780,;	105	195	202	SUCCESS
ANO6	196527	.	GRCh37	12	45725118	45725118	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772928472	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	288	201	533	0	ENST00000320560.8:c.191A>T	p.Asp64Val	p.D64V	ENST00000320560	NM_001025356.2	64	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS55819.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGATGGCC	NONE	.	.	hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308	.	.	ENSP00000409126	.	4/21	.	.	.	.	.	.	.	.	rs772928472	4/21	PASS	ENST00000423947	Transcript	.	.	ENSG00000177119	25240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ANO6_HUMAN	ANO6	HGNC	.	.	UPI000022935A	SNV	ANO6,missense_variant,p.Asp46Val,ENST00000441606,;ANO6,missense_variant,p.Asp64Val,ENST00000320560,;ANO6,missense_variant,p.Asp85Val,ENST00000423947,;ANO6,missense_variant,p.Asp64Val,ENST00000435642,;ANO6,missense_variant,p.Asp64Val,ENST00000425752,;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;ANO6,upstream_gene_variant,,ENST00000551667,;	491	533	490	SUCCESS
SLC38A2	54407	.	GRCh37	12	46760702	46760702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	68	0	ENST00000256689.5:c.508A>G	p.Lys170Glu	p.K170E	ENST00000256689	NM_018976.4	170	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS8749.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTTCACTA	NONE	.	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Pfam_domain:PF01490	.	.	ENSP00000256689	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000256689	Transcript	.	.	ENSG00000134294	13448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	S38A2_HUMAN	SLC38A2	HGNC	.	.	UPI000000121A	SNV	SLC38A2,missense_variant,p.Lys170Glu,ENST00000256689,;SLC38A2,upstream_gene_variant,,ENST00000551374,;RP11-474P2.2,upstream_gene_variant,,ENST00000550319,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548870,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000547252,;SLC38A2,downstream_gene_variant,,ENST00000551405,;SLC38A2,upstream_gene_variant,,ENST00000548111,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,upstream_gene_variant,,ENST00000548785,;SLC38A2,upstream_gene_variant,,ENST00000552414,;SLC38A2,upstream_gene_variant,,ENST00000552703,;SLC38A2,upstream_gene_variant,,ENST00000546520,;SLC38A2,downstream_gene_variant,,ENST00000553252,;SLC38A2,upstream_gene_variant,,ENST00000548236,;	953	68	81	SUCCESS
KMT2D	8085	.	GRCh37	12	49427950	49427950	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775632051	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	58	0	ENST00000301067.7:c.10640G>A	p.Arg3547His	p.R3547H	ENST00000301067	NM_003482.3	3547	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS44873.1	10640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGCTGC	SITE|p.R3547H|c.10640G>A|3,CODON|p.R3277H|c.9830G>A|3	byFrequency	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	38/54	.	.	.	.	.	.	.	.	rs775632051,COSM240684,COSM240685	38/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.984)	.	.	0,1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Arg3547His,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	10640	58	46	SUCCESS
AQP6	363	.	GRCh37	12	50367033	50367033	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1565644200	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	84	0	ENST00000315520.5:c.77C>T	p.Ala26Val	p.A26V	ENST00000315520	NM_001652.3	26	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31798.1	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCGCTGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF113,Gene3D:1.20.1080.10,Pfam_domain:PF00230,Superfamily_domains:SSF81338,Prints_domain:PR00783	.	.	ENSP00000320247	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000315520	Transcript	.	.	ENSG00000086159	639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	AQP6_HUMAN	AQP6	HGNC	F8VW87_HUMAN	.	UPI000013EBD8	SNV	AQP6,missense_variant,p.Ala26Val,ENST00000315520,;AQP6,intron_variant,,ENST00000551733,;RACGAP1,downstream_gene_variant,,ENST00000548961,;AQP6,non_coding_transcript_exon_variant,,ENST00000489786,;	414	84	48	SUCCESS
AQP6	363	.	GRCh37	12	50368266	50368266	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	44	0	ENST00000315520.5:c.561+1G>T		p.X187_splice	ENST00000315520	NM_001652.3	187		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31798.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGTAAGG	NONE	.	.	.	.	.	ENSP00000320247	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315520	Transcript	.	.	ENSG00000086159	639	.	.	HIGH	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQP6_HUMAN	AQP6	HGNC	F8VW87_HUMAN	.	UPI000013EBD8	SNV	AQP6,splice_donor_variant,,ENST00000551733,;AQP6,splice_donor_variant,,ENST00000315520,;RACGAP1,downstream_gene_variant,,ENST00000548961,;AQP6,splice_donor_variant,,ENST00000489786,;	.	44	42	SUCCESS
CERS5	91012	.	GRCh37	12	50537820	50537820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	54	0	ENST00000317551.6:c.218C>T	p.Ala73Val	p.A73V	ENST00000317551	NM_147190.2	73	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8801.1	218	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTGCACAG	NONE	.	.	PIRSF_domain:PIRSF005225,hmmpanther:PTHR12560:SF8,hmmpanther:PTHR12560	.	.	ENSP00000325485	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000317551	Transcript	.	.	ENSG00000139624	23749	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.411)	.	deleterious(0)	.	CERS5_HUMAN	CERS5	HGNC	F8W1K4_HUMAN	.	UPI000007101F	SNV	CERS5,missense_variant,p.Ala15Val,ENST00000422340,;CERS5,missense_variant,p.Ala8Val,ENST00000547800,;CERS5,missense_variant,p.Ala73Val,ENST00000317551,;CERS5,upstream_gene_variant,,ENST00000550547,;CERS5,non_coding_transcript_exon_variant,,ENST00000549942,;CERS5,non_coding_transcript_exon_variant,,ENST00000548930,;RP4-605O3.4,intron_variant,,ENST00000548468,;CERS5,missense_variant,p.Ala73Val,ENST00000551697,;CERS5,missense_variant,p.Ala73Val,ENST00000542320,;CERS5,missense_variant,p.Ala73Val,ENST00000380189,;CERS5,3_prime_UTR_variant,,ENST00000550258,;CERS5,3_prime_UTR_variant,,ENST00000549389,;CERS5,3_prime_UTR_variant,,ENST00000547787,;CERS5,3_prime_UTR_variant,,ENST00000546514,;CERS5,3_prime_UTR_variant,,ENST00000547455,;CERS5,non_coding_transcript_exon_variant,,ENST00000551384,;CERS5,non_coding_transcript_exon_variant,,ENST00000551005,;CERS5,intron_variant,,ENST00000438450,;CERS5,downstream_gene_variant,,ENST00000550899,;CERS5,upstream_gene_variant,,ENST00000549089,;	343	54	71	SUCCESS
TFCP2	7024	.	GRCh37	12	51512404	51512404	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	92	0	ENST00000257915.5:c.274G>T	p.Gly92Ter	p.G92*	ENST00000257915	NM_005653.4	92	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS8808.1	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACCTTGAT	NONE	.	.	Pfam_domain:PF04516,hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF11	.	.	ENSP00000257915	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000257915	Transcript	.	.	ENSG00000135457	11748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFCP2_HUMAN	TFCP2	HGNC	F8VWL0_HUMAN	.	UPI0000071CCA	SNV	TFCP2,stop_gained,p.Gly92Ter,ENST00000257915,;TFCP2,stop_gained,p.Gly92Ter,ENST00000548115,;TFCP2,stop_gained,p.Gly92Ter,ENST00000307660,;TFCP2,stop_gained,p.Gly92Ter,ENST00000549867,;TFCP2,splice_region_variant,,ENST00000548108,;	733	92	82	SUCCESS
SMAGP	57228	.	GRCh37	12	51663059	51663059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	95	0	ENST00000398453.3:c.4A>G	p.Thr2Ala	p.T2A	ENST00000398453	NM_001033873.1	2	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS44889.1	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTCATTG	NONE	.	.	.	.	.	ENSP00000475068	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000603798	Transcript	.	.	ENSG00000170545	26918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.16)	.	SMAGP_HUMAN	SMAGP	HGNC	S4R466_HUMAN,S4R3E1_HUMAN,Q7L5E9_HUMAN	.	UPI00001FC254	SNV	SMAGP,missense_variant,p.Thr2Ala,ENST00000603838,;SMAGP,missense_variant,p.Thr2Ala,ENST00000603864,;SMAGP,missense_variant,p.Thr2Ala,ENST00000398453,;SMAGP,missense_variant,p.Thr2Ala,ENST00000604188,;SMAGP,missense_variant,p.Thr2Ala,ENST00000605426,;SMAGP,missense_variant,p.Thr2Ala,ENST00000603798,;SMAGP,5_prime_UTR_variant,,ENST00000605627,;DAZAP2,intron_variant,,ENST00000604900,;SMAGP,missense_variant,p.Thr2Ala,ENST00000380103,;	677	95	89	SUCCESS
NR4A1	3164	.	GRCh37	12	52448156	52448156	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375396767	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	56	0	ENST00000243050.1:c.44C>T	p.Pro15Leu	p.P15L	ENST00000243050	NM_002135.4	15	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS55828.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCCGGGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Prints_domain:PR01285	.	.	ENSP00000353427	.	3/8	.	.	.	.	.	.	.	.	rs375396767	3/8	PASS	ENST00000360284	Transcript	.	.	ENSG00000123358	7980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	NR4A1_HUMAN	NR4A1	HGNC	H3BT85_HUMAN,H3BSB9_HUMAN,H3BPN8_HUMAN	.	UPI00001FC28B	SNV	NR4A1,missense_variant,p.Pro15Leu,ENST00000394824,;NR4A1,missense_variant,p.Pro15Leu,ENST00000550763,;NR4A1,missense_variant,p.Pro28Leu,ENST00000550082,;NR4A1,missense_variant,p.Pro15Leu,ENST00000243050,;NR4A1,missense_variant,p.Pro28Leu,ENST00000360284,;NR4A1,missense_variant,p.Pro15Leu,ENST00000548232,;NR4A1,missense_variant,p.Pro15Leu,ENST00000394825,;NR4A1,missense_variant,p.Pro28Leu,ENST00000546842,;NR4A1,missense_variant,p.Pro69Leu,ENST00000545748,;NR4A1,missense_variant,p.Pro28Leu,ENST00000548977,;NR4A1,5_prime_UTR_variant,,ENST00000562373,;NR4A1,upstream_gene_variant,,ENST00000550582,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,non_coding_transcript_exon_variant,,ENST00000547206,;NR4A1,intron_variant,,ENST00000548733,;NR4A1,non_coding_transcript_exon_variant,,ENST00000549102,;NR4A1,non_coding_transcript_exon_variant,,ENST00000478250,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,upstream_gene_variant,,ENST00000550339,;NR4A1,upstream_gene_variant,,ENST00000567890,;NR4A1,upstream_gene_variant,,ENST00000564201,;NR4A1,upstream_gene_variant,,ENST00000565848,;	274	56	67	SUCCESS
KRT82	3888	.	GRCh37	12	52799999	52799999	+	synonymous_variant	Silent	SNP	C	C	T	rs558524531	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	50	0	ENST00000257974.2:c.63G>A	p.Ser21=	p.S21=	ENST00000257974	NM_033033.3	21	tcG/tcA	0	.	T:0.0008	.	T:0	.	T	S	protein_coding	YES	CCDS8826.1	63	MUTECT|MUSE	.	ACAGCCGAGTA	NONE	by1000G	.	.	T:0	.	ENSP00000257974	T:0	1/9	.	.	.	.	.	.	.	.	rs558524531	1/9	PASS	ENST00000257974	Transcript	.	T:0.0002	ENSG00000161850	6459	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	KRT82_HUMAN	KRT82	HGNC	.	.	UPI000013CFA4	SNV	KRT82,synonymous_variant,p.%3D,ENST00000257974,;RP11-1020M18.10,upstream_gene_variant,,ENST00000548135,;RP3-416H24.4,downstream_gene_variant,,ENST00000547174,;	141	50	66	SUCCESS
KRT2	3849	.	GRCh37	12	53041638	53041638	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	57	0	ENST00000309680.3:c.1124A>G	p.Tyr375Cys	p.Y375C	ENST00000309680	NM_000423.2	375	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS8835.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCATACTGA	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239	.	.	ENSP00000310861	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000309680	Transcript	.	.	ENSG00000172867	6439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	K22E_HUMAN	KRT2	HGNC	.	.	UPI0000367804	SNV	KRT2,missense_variant,p.Tyr375Cys,ENST00000309680,;KRT2,downstream_gene_variant,,ENST00000547106,;	1146	57	66	SUCCESS
SMARCC2	6601	.	GRCh37	12	56575357	56575357	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	147	0	ENST00000267064.4:c.865C>T	p.Arg289Trp	p.R289W	ENST00000267064	NM_003075.3	289	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8907.1	865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGTCGAT	NONE	.	.	hmmpanther:PTHR12802:SF38,hmmpanther:PTHR12802	.	.	ENSP00000267064	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.689)	.	deleterious(0)	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	SNV	SMARCC2,missense_variant,p.Arg289Trp,ENST00000267064,;SMARCC2,missense_variant,p.Arg289Trp,ENST00000550164,;SMARCC2,missense_variant,p.Arg289Trp,ENST00000394023,;SMARCC2,missense_variant,p.Arg289Trp,ENST00000347471,;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,downstream_gene_variant,,ENST00000550859,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000549757,;SMARCC2,downstream_gene_variant,,ENST00000552627,;SMARCC2,downstream_gene_variant,,ENST00000550150,;SMARCC2,upstream_gene_variant,,ENST00000548130,;SMARCC2,upstream_gene_variant,,ENST00000552566,;SMARCC2,downstream_gene_variant,,ENST00000547356,;SMARCC2,downstream_gene_variant,,ENST00000550519,;	952	147	113	SUCCESS
IL23A	51561	.	GRCh37	12	56733288	56733288	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	110	0	ENST00000228534.4:c.241G>T	p.Gly81Ter	p.G81*	ENST00000228534	NM_016584.2	81	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS8916.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAGGACTC	NONE	.	.	hmmpanther:PTHR15947,Gene3D:1.20.1250.10,Pfam_domain:PF00489,Superfamily_domains:SSF47266	.	.	ENSP00000228534	.	2/4	.	.	.	.	.	.	.	.	COSM941651	2/4	PASS	ENST00000228534	Transcript	.	.	ENSG00000110944	15488	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IL23A_HUMAN	IL23A	HGNC	.	.	UPI0000034E42	SNV	IL23A,stop_gained,p.Gly81Ter,ENST00000228534,;STAT2,downstream_gene_variant,,ENST00000557235,;STAT2,downstream_gene_variant,,ENST00000314128,;STAT2,downstream_gene_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000555488,;	407	111	94	SUCCESS
APOF	319	.	GRCh37	12	56755672	56755672	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	9	144	0	ENST00000398189.3:c.318T>G	p.Ala106=	p.A106=	ENST00000398189	NM_001638.2	106	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS44923.1	318	MUTECT|MUSE	.	TGTAGAGCCCA	NONE	.	.	hmmpanther:PTHR15011,hmmpanther:PTHR15011:SF3,Pfam_domain:PF15148	.	.	ENSP00000381250	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398189	Transcript	.	.	ENSG00000175336	615	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOF_HUMAN	APOF	HGNC	F5GXS5_HUMAN	.	UPI0000167B1E	SNV	APOF,synonymous_variant,p.%3D,ENST00000398189,;APOF,synonymous_variant,p.%3D,ENST00000541105,;STAT2,upstream_gene_variant,,ENST00000418572,;STAT2,upstream_gene_variant,,ENST00000557235,;STAT2,upstream_gene_variant,,ENST00000314128,;STAT2,upstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000555646,;STAT2,upstream_gene_variant,,ENST00000557417,;	396	144	127	SUCCESS
TIMELESS	8914	.	GRCh37	12	56814391	56814391	+	synonymous_variant	Silent	SNP	A	A	G	rs267603583	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	104	0	ENST00000553532.1:c.3190T>C	p.Leu1064=	p.L1064=	ENST00000553532		1064	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8918.1	3190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GCGCAACAGCT	NONE	.	.	Pfam_domain:PF05029,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	26/29	.	.	.	.	.	.	.	.	rs267603583	26/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,synonymous_variant,p.%3D,ENST00000553532,;TIMELESS,synonymous_variant,p.%3D,ENST00000554616,;TIMELESS,synonymous_variant,p.%3D,ENST00000229201,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000553314,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,downstream_gene_variant,,ENST00000555808,;	3341	104	100	SUCCESS
RDH16	8608	.	GRCh37	12	57351324	57351324	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	39	0	ENST00000398138.3:c.-78T>C		p.*26*	ENST00000398138	NM_003708.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41797.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGAACACA	NONE	.	.	.	.	.	ENSP00000381206	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398138	Transcript	.	.	ENSG00000139547	29674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDH16_HUMAN	RDH16	HGNC	.	.	UPI000013D71C	SNV	RDH16,5_prime_UTR_variant,,ENST00000398138,;RDH16,non_coding_transcript_exon_variant,,ENST00000360752,;	780	39	33	SUCCESS
LRP1	4035	.	GRCh37	12	57556223	57556223	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs34108076	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	68	0	ENST00000243077.3:c.2331del	p.Thr778LeufsTer2	p.T778Lfs*2	ENST00000243077	NM_002332.2	776	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS8932.1	2326	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCGCACCCCCC	NONE	.	.	hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30	.	.	ENSP00000243077	.	14/89	.	.	.	.	.	.	.	.	rs764523602	14/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	deletion	LRP1,frameshift_variant,p.Thr778LeufsTer2,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000556830,;	2792	68	90	SUCCESS
GLI1	2735	.	GRCh37	12	57865761	57865761	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	54	147	0	ENST00000228682.2:c.3243del	p.Asn1082ThrfsTer7	p.N1082Tfs*7	ENST00000228682	NM_005269.2	1080	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS8940.1	3238	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGGGCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818	.	.	ENSP00000228682	.	12/12	.	.	.	.	.	.	.	.	COSM1363314	12/12	PASS	ENST00000228682	Transcript	.	.	ENSG00000111087	4317	5	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	GLI1_HUMAN	GLI1	HGNC	F5H6H8_HUMAN,E9PQQ1_HUMAN,E9PIB9_HUMAN,B1Q2M2_HUMAN	.	UPI000012B607	deletion	GLI1,frameshift_variant,p.Asn1082ThrfsTer7,ENST00000228682,;GLI1,frameshift_variant,p.Asn1041ThrfsTer7,ENST00000528467,;GLI1,frameshift_variant,p.Asn954ThrfsTer7,ENST00000543426,;GLI1,frameshift_variant,p.Asn1041ThrfsTer7,ENST00000546141,;ARHGAP9,downstream_gene_variant,,ENST00000552604,;ARHGAP9,downstream_gene_variant,,ENST00000430041,;ARHGAP9,downstream_gene_variant,,ENST00000551452,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000356411,;ARHGAP9,downstream_gene_variant,,ENST00000393791,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000548139,;ARHGAP9,downstream_gene_variant,,ENST00000552066,;ARHGAP9,downstream_gene_variant,,ENST00000393797,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;ARHGAP9,downstream_gene_variant,,ENST00000424809,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000547200,;ARHGAP9,downstream_gene_variant,,ENST00000550454,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000552420,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000551574,;ARHGAP9,downstream_gene_variant,,ENST00000547216,;ARHGAP9,downstream_gene_variant,,ENST00000548148,;	3329	147	168	SUCCESS
DTX3	196403	.	GRCh37	12	58001004	58001004	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373278710	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	89	0	ENST00000337737.3:c.358G>A	p.Ala120Thr	p.A120T	ENST00000337737	NM_178502.2	120	Gca/Aca	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS41800.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCGCAGGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12622	.	A:0.0001	ENSP00000447873	.	3/5	.	.	.	.	.	.	.	.	rs373278710	3/5	PASS	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.55)	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,missense_variant,p.Ala120Thr,ENST00000337737,;DTX3,missense_variant,p.Ala120Thr,ENST00000548804,;DTX3,missense_variant,p.Ala120Thr,ENST00000548198,;DTX3,missense_variant,p.Ala123Thr,ENST00000549583,;DTX3,missense_variant,p.Ala113Thr,ENST00000548478,;DTX3,missense_variant,p.Ala123Thr,ENST00000551632,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000550596,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;DTX3,upstream_gene_variant,,ENST00000550300,;PIP4K2C,downstream_gene_variant,,ENST00000540759,;AC025165.8,downstream_gene_variant,,ENST00000356672,;	1862	89	62	SUCCESS
VWF	7450	.	GRCh37	12	6128578	6128578	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1565832211	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	96	0	ENST00000261405.5:c.4006C>T	p.Arg1336Ter	p.R1336*	ENST00000261405	NM_000552.3	1336	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS8539.1	4006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGCTTCC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000261405	.	28/52	.	.	.	.	.	.	.	.	.	28/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,stop_gained,p.Arg1336Ter,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;	4261	96	78	SUCCESS
USP15	9958	.	GRCh37	12	62785110	62785110	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	99	251	0	ENST00000280377.5:c.2134T>C	p.Phe712Leu	p.F712L	ENST00000280377	NM_001252078.1	712	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS58251.1	2134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGTTTACA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443	.	.	ENSP00000280377	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000280377	Transcript	.	.	ENSG00000135655	12613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	UBP15_HUMAN	USP15	HGNC	F8VZG8_HUMAN,F8VVY7_HUMAN	.	UPI00001379F8	SNV	USP15,missense_variant,p.Phe683Leu,ENST00000353364,;USP15,missense_variant,p.Phe687Leu,ENST00000393654,;USP15,missense_variant,p.Phe712Leu,ENST00000280377,;USP15,upstream_gene_variant,,ENST00000549415,;USP15,upstream_gene_variant,,ENST00000552346,;USP15,upstream_gene_variant,,ENST00000548620,;USP15,downstream_gene_variant,,ENST00000549268,;	2192	251	263	SUCCESS
MON2	23041	.	GRCh37	12	62938760	62938760	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1354248424	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	219	145	381	0	ENST00000393630.3:c.2552A>G	p.Asn851Ser	p.N851S	ENST00000393630		851	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31849.1	2549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAACCATG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Gene3D:1.25.10.10,Pfam_domain:PF09324,Superfamily_domains:SSF48371	.	.	ENSP00000377252	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,missense_variant,p.Asn850Ser,ENST00000546600,;MON2,missense_variant,p.Asn851Ser,ENST00000393630,;MON2,missense_variant,p.Asn851Ser,ENST00000280379,;MON2,missense_variant,p.Asn850Ser,ENST00000552115,;MON2,missense_variant,p.Asn850Ser,ENST00000393629,;MON2,missense_variant,p.Asn850Ser,ENST00000393632,;MON2,missense_variant,p.Asn827Ser,ENST00000552738,;RNU6-399P,downstream_gene_variant,,ENST00000365164,;MON2,3_prime_UTR_variant,,ENST00000547095,;	2940	381	364	SUCCESS
AVPR1A	552	.	GRCh37	12	63541343	63541343	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	60	151	0	ENST00000299178.2:c.1053del	p.Phe351LeufsTer19	p.F351Lfs*19	ENST00000299178	NM_000706.4	351	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS8965.1	1053	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCACTAAAAAA	SITE|p.F351fs*19|c.1053delT|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF17,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000299178	.	2/2	.	.	.	.	.	.	.	.	COSM1363549	2/2	PASS	ENST00000299178	Transcript	.	.	ENSG00000166148	895	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	V1AR_HUMAN	AVPR1A	HGNC	.	.	UPI0000050439	deletion	AVPR1A,frameshift_variant,p.Phe351LeufsTer19,ENST00000299178,;AVPR1A,frameshift_variant,p.Phe132LeufsTer19,ENST00000550940,;	1159	151	228	SUCCESS
TAPBPL	55080	.	GRCh37	12	6562348	6562348	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	40	129	0	ENST00000266556.7:c.180C>A	p.Ala60=	p.A60=	ENST00000266556	NM_018009.4	60	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8546.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCTCCCT	NONE	.	.	hmmpanther:PTHR23411:SF3,hmmpanther:PTHR23411	.	.	ENSP00000266556	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000266556	Transcript	.	.	ENSG00000139192	30683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPSNR_HUMAN	TAPBPL	HGNC	.	.	UPI000013D6F6	SNV	TAPBPL,synonymous_variant,p.%3D,ENST00000266556,;TAPBPL,intron_variant,,ENST00000544021,;CD27,downstream_gene_variant,,ENST00000266557,;CD27-AS1,upstream_gene_variant,,ENST00000545339,;CD27-AS1,upstream_gene_variant,,ENST00000399492,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000544826,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;CD27,downstream_gene_variant,,ENST00000541233,;TAPBPL,upstream_gene_variant,,ENST00000542160,;CD27-AS1,upstream_gene_variant,,ENST00000535639,;CD27-AS1,upstream_gene_variant,,ENST00000504270,;CD27-AS1,upstream_gene_variant,,ENST00000447687,;CD27-AS1,upstream_gene_variant,,ENST00000537003,;CD27-AS1,upstream_gene_variant,,ENST00000536388,;CD27-AS1,upstream_gene_variant,,ENST00000538616,;	345	129	114	SUCCESS
IFFO1	25900	.	GRCh37	12	6657862	6657862	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760163963	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	36	111	0	ENST00000396840.2:c.1201G>A	p.Glu401Lys	p.E401K	ENST00000396840		401	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41741.1	1210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGTTGA	NONE	.	.	hmmpanther:PTHR14516,hmmpanther:PTHR14516:SF2	.	.	ENSP00000349364	.	6/10	.	.	.	.	.	.	.	.	rs760163963	6/10	PASS	ENST00000356896	Transcript	.	.	ENSG00000010295	24970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.808)	.	deleterious(0.01)	.	IFFO1_HUMAN	IFFO1	HGNC	Q9Y4M3_HUMAN,F8W8H2_HUMAN	.	UPI00006C2066	SNV	IFFO1,missense_variant,p.Glu404Lys,ENST00000356896,;IFFO1,missense_variant,p.Glu404Lys,ENST00000336604,;IFFO1,missense_variant,p.Glu97Lys,ENST00000465801,;IFFO1,missense_variant,p.Glu97Lys,ENST00000436152,;IFFO1,missense_variant,p.Glu401Lys,ENST00000396840,;RP5-940J5.8,downstream_gene_variant,,ENST00000499202,;IFFO1,3_prime_UTR_variant,,ENST00000487279,;IFFO1,non_coding_transcript_exon_variant,,ENST00000471408,;IFFO1,non_coding_transcript_exon_variant,,ENST00000488007,;IFFO1,non_coding_transcript_exon_variant,,ENST00000396830,;IFFO1,non_coding_transcript_exon_variant,,ENST00000472558,;	1254	111	113	SUCCESS
SLC35E3	55508	.	GRCh37	12	69145879	69145879	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778747700	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	114	0	ENST00000398004.2:c.581T>C	p.Met194Thr	p.M194T	ENST00000398004	NM_018656.2	194	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS41808.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGATGTCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11132:SF47,hmmpanther:PTHR11132,Pfam_domain:PF03151	.	.	ENSP00000381089	.	3/5	.	.	.	.	.	.	.	.	rs778747700	3/5	PASS	ENST00000398004	Transcript	.	.	ENSG00000175782	20864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	deleterious(0)	.	S35E3_HUMAN	SLC35E3	HGNC	.	.	UPI0000048F4D	SNV	SLC35E3,missense_variant,p.Met4Thr,ENST00000431174,;SLC35E3,missense_variant,p.Met194Thr,ENST00000398004,;SLC35E3,non_coding_transcript_exon_variant,,ENST00000319429,;SLC35E3,upstream_gene_variant,,ENST00000538043,;	853	114	96	SUCCESS
RAB3IP	117177	.	GRCh37	12	70188991	70188991	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs575263311	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	68	229	0	ENST00000550536.1:c.803C>T	p.Thr268Met	p.T268M	ENST00000550536	NM_175623.3	268	aCg/aTg	0	.	T:0.0015	.	T:0	.	T	T/M	protein_coding	YES	CCDS8993.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTACGCAGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430	T:0	.	ENSP00000447300	T:0	6/11	.	.	.	.	.	.	.	.	rs575263311	6/11	PASS	ENST00000550536	Transcript	.	T:0.0004	ENSG00000127328	16508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	T:0	tolerated(0.1)	.	RAB3I_HUMAN	RAB3IP	HGNC	F8VNX9_HUMAN	.	UPI000006EB02	SNV	RAB3IP,missense_variant,p.Thr142Met,ENST00000550647,;RAB3IP,missense_variant,p.Thr252Met,ENST00000483530,;RAB3IP,missense_variant,p.Thr46Met,ENST00000553099,;RAB3IP,missense_variant,p.Thr268Met,ENST00000362025,;RAB3IP,missense_variant,p.Thr252Met,ENST00000247833,;RAB3IP,missense_variant,p.Thr268Met,ENST00000550536,;RAB3IP,missense_variant,p.Thr252Met,ENST00000378815,;RAB3IP,missense_variant,p.Thr46Met,ENST00000325555,;RAB3IP,missense_variant,p.Thr46Met,ENST00000551641,;RAB3IP,upstream_gene_variant,,ENST00000550847,;RAB3IP,upstream_gene_variant,,ENST00000526994,;RAB3IP,missense_variant,p.Thr268Met,ENST00000552199,;RAB3IP,missense_variant,p.Thr268Met,ENST00000378809,;RAB3IP,missense_variant,p.Thr252Met,ENST00000417413,;RAB3IP,3_prime_UTR_variant,,ENST00000547591,;	1260	229	206	SUCCESS
PTPN6	5777	.	GRCh37	12	7069305	7069305	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1356852472	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	90	0	ENST00000318974.9:c.1484G>A	p.Arg495His	p.R495H	ENST00000318974	NM_002831.5	495	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS44821.1	1484	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGCTCGG	NONE	.	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134:SF65,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,PIRSF_domain:PIRSF000929,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000391592	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000456013	Transcript	.	.	ENSG00000111679	9658	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTN6_HUMAN	PTPN6	HGNC	F5H0N8_HUMAN	.	UPI000014049A	SNV	PTPN6,missense_variant,p.Arg495His,ENST00000456013,;PTPN6,missense_variant,p.Arg456His,ENST00000447931,;PTPN6,missense_variant,p.Arg495His,ENST00000318974,;PTPN6,missense_variant,p.Arg497His,ENST00000399448,;PTPN6,downstream_gene_variant,,ENST00000542462,;PTPN6,downstream_gene_variant,,ENST00000541698,;U47924.27,upstream_gene_variant,,ENST00000537269,;MIR200C,upstream_gene_variant,,ENST00000384980,;MIR141,upstream_gene_variant,,ENST00000384975,;U47924.29,upstream_gene_variant,,ENST00000606539,;PTPN6,non_coding_transcript_exon_variant,,ENST00000537533,;PTPN6,non_coding_transcript_exon_variant,,ENST00000539029,;PTPN6,downstream_gene_variant,,ENST00000534900,;EMG1,upstream_gene_variant,,ENST00000607161,;PTPN6,non_coding_transcript_exon_variant,,ENST00000542761,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000536013,;PTPN6,downstream_gene_variant,,ENST00000538318,;	1726	90	72	SUCCESS
KCNMB4	27345	.	GRCh37	12	70824288	70824288	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1289045846	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	64	0	ENST00000258111.4:c.488G>A	p.Arg163His	p.R163H	ENST00000258111	NM_014505.5	163	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8997.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCGCACTC	SITE|p.R163H|c.488G>A|4	.	.	Pfam_domain:PF03185,hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF3	.	.	ENSP00000258111	.	3/3	.	.	.	.	.	.	.	.	COSM943110	3/3	PASS	ENST00000258111	Transcript	.	.	ENSG00000135643	6289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious(0.03)	1	KCMB4_HUMAN	KCNMB4	HGNC	.	.	UPI0000073E0E	SNV	KCNMB4,missense_variant,p.Arg163His,ENST00000258111,;KCNMB4,3_prime_UTR_variant,,ENST00000531884,;	947	64	49	SUCCESS
C1R	715	.	GRCh37	12	7188073	7188074	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	140	53	137	0	ENST00000542285.1:c.1724dup	p.Asn576GlufsTer2	p.N576Efs*2	ENST00000542285		575	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	.	1724-1725	INDELOCATOR*|VARSCANI*|PINDEL	.	CTATTCTTTCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265:SF78,hmmpanther:PTHR24265,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001155,Superfamily_domains:SSF50494	.	.	ENSP00000438615	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000542285	Transcript	.	.	ENSG00000159403	1246	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	C1R	HGNC	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN	.	UPI00020653A8	insertion	C1R,frameshift_variant,p.Asn204GlufsTer2,ENST00000602480,;C1R,frameshift_variant,p.Asn576GlufsTer2,ENST00000542285,;C1R,frameshift_variant,p.Asn204GlufsTer2,ENST00000602286,;	1874-1875	137	193	SUCCESS
CLSTN3	9746	.	GRCh37	12	7310658	7310658	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs758841384	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	89	0	ENST00000266546.6:c.2858del	p.Pro953HisfsTer106	p.P953Hfs*106	ENST00000266546	NM_014718.3	951	aCc/ac	0	A:0.0107	A:0.0136	.	A:0.0029	.	-	T/X	protein_coding	YES	CCDS8575.1	2852	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGAGACCCCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5	A:0	A:0	ENSP00000266546	A:0	18/18	.	.	.	.	.	.	.	.	rs79149590,COSM1364149	18/18	PASS	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0	.	0,1	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	deletion	CLSTN3,frameshift_variant,p.Pro965HisfsTer106,ENST00000537408,;CLSTN3,frameshift_variant,p.Pro953HisfsTer106,ENST00000266546,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000535313,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000331148,;	3302	89	104	SUCCESS
GLIPR1L2	144321	.	GRCh37	12	75816843	75816843	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	28	0	ENST00000550916.1:c.670+79del		p.*224*	ENST00000550916	NM_001270396.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS58258.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTAGTTTTTT	NONE	.	.	.	.	.	ENSP00000448248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000550916	Transcript	.	.	ENSG00000180481	28592	5	.	MODIFIER	4/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRPL2_HUMAN	GLIPR1L2	HGNC	.	.	UPI00001408B2	deletion	GLIPR1L2,frameshift_variant,p.Leu250TyrfsTer57,ENST00000320460,;GLIPR1L2,intron_variant,,ENST00000441218,;GLIPR1L2,intron_variant,,ENST00000435775,;GLIPR1L2,intron_variant,,ENST00000378692,;GLIPR1L2,intron_variant,,ENST00000550916,;GLIPR1L2,downstream_gene_variant,,ENST00000547164,;	.	28	40	SUCCESS
BBS10	79738	.	GRCh37	12	76740856	76740856	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	70	0	ENST00000393262.3:c.909T>C	p.Ser303=	p.S303=	ENST00000393262	NM_024685.3	303	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9014.2	909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGACTATG	NONE	.	.	hmmpanther:PTHR14667,Gene3D:3.50.7.10,Pfam_domain:PF00118	.	.	ENSP00000376946	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000393262	Transcript	.	.	ENSG00000179941	26291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS10_HUMAN	BBS10	HGNC	.	.	UPI0000D720FE	SNV	BBS10,synonymous_variant,p.%3D,ENST00000393262,;OSBPL8,downstream_gene_variant,,ENST00000261183,;OSBPL8,downstream_gene_variant,,ENST00000393249,;	993	70	56	SUCCESS
E2F7	144455	.	GRCh37	12	77417817	77417817	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	77	0	ENST00000322886.7:c.2714T>A	p.Ile905Asn	p.I905N	ENST00000322886	NM_203394.2	905	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS9016.1	2714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGATTTCT	NONE	.	.	.	.	.	ENSP00000323246	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000322886	Transcript	.	.	ENSG00000165891	23820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	E2F7_HUMAN	E2F7	HGNC	F8VXV5_HUMAN,F8VSE7_HUMAN	.	UPI00001B64A1	SNV	E2F7,missense_variant,p.Ile905Asn,ENST00000322886,;E2F7,3_prime_UTR_variant,,ENST00000416496,;E2F7,downstream_gene_variant,,ENST00000550669,;	2950	77	61	SUCCESS
CLEC4C	170482	.	GRCh37	12	7900021	7900021	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	33	0	ENST00000360345.3:c.-77A>T		p.*26*	ENST00000360345				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8583.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTTACTTT	NONE	.	.	.	.	.	ENSP00000440428	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000542353	Transcript	.	.	ENSG00000198178	13258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC4C_HUMAN	CLEC4C	HGNC	H0YFH6_HUMAN	.	UPI000003C38D	SNV	CLEC4C,5_prime_UTR_variant,,ENST00000542353,;CLEC4C,5_prime_UTR_variant,,ENST00000354629,;CLEC4C,5_prime_UTR_variant,,ENST00000360345,;CLEC4C,5_prime_UTR_variant,,ENST00000540085,;CLEC4C,upstream_gene_variant,,ENST00000543765,;	415	33	36	SUCCESS
PPP1R12A	4659	.	GRCh37	12	80328745	80328745	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	DEL	G	G	-	rs775122997	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	32	0	ENST00000261207.5:c.-20-14del		p.*7*	ENST00000261207	NM_001143885.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44947.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGCGAGGGGGG	NONE	byFrequency	.	.	.	.	ENSP00000389168	.	1/25	.	.	.	.	.	.	.	.	rs775122997	1/25	PASS	ENST00000450142	Transcript	.	.	ENSG00000058272	7618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYPT1_HUMAN	PPP1R12A	HGNC	F8VW28_HUMAN	.	UPI0000073E69	deletion	PPP1R12A,5_prime_UTR_variant,,ENST00000547330,;PPP1R12A,5_prime_UTR_variant,,ENST00000450142,;PPP1R12A,intron_variant,,ENST00000261207,;PPP1R12A,intron_variant,,ENST00000437004,;PPP1R12A,upstream_gene_variant,,ENST00000550510,;PPP1R12A,upstream_gene_variant,,ENST00000550107,;RP11-84G21.1,non_coding_transcript_exon_variant,,ENST00000552885,;	234	32	37	SUCCESS
FAM90A1	55138	.	GRCh37	12	8375067	8375067	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	70	0	ENST00000307435.6:c.746G>A	p.Gly249Asp	p.G249D	ENST00000307435		249	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS31738.1	746	RADIA|MUTECT	.	GCAGGCCGTGG	NONE	.	.	hmmpanther:PTHR16035:SF8,hmmpanther:PTHR16035	.	.	ENSP00000445418	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000538603	Transcript	.	.	ENSG00000171847	25526	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.779)	.	deleterious(0)	.	F90A1_HUMAN	FAM90A1	HGNC	.	.	UPI000013EC10	SNV	FAM90A1,missense_variant,p.Gly249Asp,ENST00000538603,;FAM90A1,missense_variant,p.Gly249Asp,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	1305	70	46	SUCCESS
NTS	4922	.	GRCh37	12	86276037	86276037	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	368	115	366	0	ENST00000256010.6:c.401del	p.Asn134MetfsTer7	p.N134Mfs*7	ENST00000256010	NM_006183.4	133	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS9029.1	397	INDELOCATOR*|VARSCANI*|PINDEL	.	AATGACAAAAAT	NONE	.	.	Prints_domain:PR01668,Pfam_domain:PF07421,hmmpanther:PTHR15356:SF0,hmmpanther:PTHR15356	.	.	ENSP00000256010	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000256010	Transcript	.	.	ENSG00000133636	8038	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEUT_HUMAN	NTS	HGNC	Q86U50_HUMAN,Q6FH20_HUMAN	.	UPI0000000CAD	deletion	NTS,frameshift_variant,p.Asn134MetfsTer7,ENST00000256010,;NTS,frameshift_variant,p.Asn59MetfsTer7,ENST00000551529,;NTS,non_coding_transcript_exon_variant,,ENST00000550879,;	504	366	483	SUCCESS
TMTC3	160418	.	GRCh37	12	88582677	88582677	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	308	95	433	0	ENST00000266712.6:c.1490A>G	p.Lys497Arg	p.K497R	ENST00000266712	NM_181783.3	497	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9032.1	1490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAAAGAAG	BUFFER|p.E498Q|c.1492G>C|4	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF384,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000266712	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000266712	Transcript	.	.	ENSG00000139324	26899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.19)	.	TMTC3_HUMAN	TMTC3	HGNC	F8W044_HUMAN	.	UPI000004D255	SNV	TMTC3,missense_variant,p.Lys497Arg,ENST00000266712,;TMTC3,3_prime_UTR_variant,,ENST00000547034,;	1710	433	403	SUCCESS
LUM	4060	.	GRCh37	12	91497984	91497984	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771455004	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	87	0	ENST00000266718.4:c.975G>T	p.Met325Ile	p.M325I	ENST00000266718	NM_002345.3	325	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9038.1	975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATACATATC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF54,hmmpanther:PTHR24371,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000266718	.	3/3	.	.	.	.	.	.	.	.	rs771455004	3/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.37)	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,missense_variant,p.Met325Ile,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;	1430	87	118	SUCCESS
ELK3	2004	.	GRCh37	12	96617510	96617510	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	44	100	0	ENST00000228741.3:c.166T>C	p.Tyr56His	p.Y56H	ENST00000228741	NM_005230.2	56	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS9060.1	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACTATGAT	NONE	.	.	PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF172,PROSITE_patterns:PS00346,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454	.	.	ENSP00000228741	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000228741	Transcript	.	.	ENSG00000111145	3325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ELK3_HUMAN	ELK3	HGNC	F8VZQ0_HUMAN,F8VUJ0_HUMAN	.	UPI0000000E09	SNV	ELK3,missense_variant,p.Tyr56His,ENST00000547860,;ELK3,missense_variant,p.Tyr56His,ENST00000228741,;ELK3,missense_variant,p.Tyr56His,ENST00000552142,;ELK3,downstream_gene_variant,,ENST00000547249,;RP11-394J1.2,non_coding_transcript_exon_variant,,ENST00000551844,;	492	100	98	SUCCESS
CCDC168	643677	.	GRCh37	13	103384583	103384583	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	59	178	0	ENST00000322527.2:c.4577C>T	p.Pro1526Leu	p.P1526L	ENST00000322527	NM_001146197.1	1526	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	.	4577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAGGTGAA	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.24)	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,missense_variant,p.Pro1526Leu,ENST00000322527,;	4577	178	136	SUCCESS
KDELC1	0	.	GRCh37	13	103441481	103441481	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	54	118	1	ENST00000376004.4:c.1174T>C	p.Ser392Pro	p.S392P	ENST00000376004	NM_024089.2	392	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS9504.1	1174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGAATCCT	NONE	.	.	hmmpanther:PTHR12203:SF21,hmmpanther:PTHR12203,Pfam_domain:PF05686,SMART_domains:SM00672	.	.	ENSP00000365172	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000376004	Transcript	.	.	ENSG00000134901	19350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KDEL1_HUMAN	KDELC1	HGNC	.	.	UPI000004C663	SNV	KDELC1,missense_variant,p.Ser392Pro,ENST00000376004,;KDELC1,non_coding_transcript_exon_variant,,ENST00000460338,;KDELC1,intron_variant,,ENST00000484943,;KDELC1,downstream_gene_variant,,ENST00000486540,;	1511	119	110	SUCCESS
COL4A1	1282	.	GRCh37	13	110864792	110864792	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs1566378788	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	44	106	0	ENST00000375820.4:c.359del	p.Pro120GlnfsTer36	p.P120Qfs*36	ENST00000375820	NM_001845.4	120	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS9511.1	359	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACCTGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391	.	.	ENSP00000364979	.	6/52	.	.	.	.	.	.	.	.	COSM141417	6/52	PASS	ENST00000375820	Transcript	.	.	ENSG00000187498	2202	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	deletion	COL4A1,frameshift_variant,p.Pro120GlnfsTer36,ENST00000375820,;COL4A1,frameshift_variant,p.Pro120GlnfsTer36,ENST00000543140,;	481	106	142	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111857659	111857659	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	7	241	0	ENST00000375741.2:c.339T>C	p.Tyr113=	p.Y113=	ENST00000375741	NM_145735.2	113	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS45068.1	339	MUTECT|MUSE	.	TTGTATCAGGG	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Gene3D:1.10.418.10,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826,PROSITE_profiles:PS50021	.	.	ENSP00000364893	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,synonymous_variant,p.%3D,ENST00000375739,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375741,;ARHGEF7,synonymous_variant,p.%3D,ENST00000317133,;ARHGEF7,synonymous_variant,p.%3D,ENST00000426768,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375737,;ARHGEF7,5_prime_UTR_variant,,ENST00000218789,;ARHGEF7,5_prime_UTR_variant,,ENST00000466143,;ARHGEF7,5_prime_UTR_variant,,ENST00000449979,;ARHGEF7,5_prime_UTR_variant,,ENST00000375736,;ARHGEF7,5_prime_UTR_variant,,ENST00000467053,;ARHGEF7,5_prime_UTR_variant,,ENST00000491775,;ARHGEF7,5_prime_UTR_variant,,ENST00000544132,;ARHGEF7,5_prime_UTR_variant,,ENST00000426073,;ARHGEF7,5_prime_UTR_variant,,ENST00000375723,;ARHGEF7,intron_variant,,ENST00000370623,;ARHGEF7,5_prime_UTR_variant,,ENST00000469877,;	589	241	266	SUCCESS
MCF2L	23263	.	GRCh37	13	113718636	113718636	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs563320301	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	71	0	ENST00000375608.3:c.598G>A	p.Val200Ile	p.V200I	ENST00000375608		200	Gta/Ata	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS45070.2	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTACCA	NONE	by1000G	.	PROSITE_profiles:PS50191,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Gene3D:3.40.525.10,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087	A:0	.	ENSP00000440374	A:0	6/30	.	.	.	.	.	.	.	.	rs563320301	6/30	PASS	ENST00000535094	Transcript	.	A:0.0002	ENSG00000126217	14576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	A:0.001	deleterious(0.04)	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,missense_variant,p.Val176Ile,ENST00000434480,;MCF2L,missense_variant,p.Val168Ile,ENST00000423482,;MCF2L,missense_variant,p.Val200Ile,ENST00000442652,;MCF2L,missense_variant,p.Val90Ile,ENST00000423251,;MCF2L,missense_variant,p.Val168Ile,ENST00000375597,;MCF2L,missense_variant,p.Val203Ile,ENST00000397030,;MCF2L,missense_variant,p.Val174Ile,ENST00000375601,;MCF2L,missense_variant,p.Val200Ile,ENST00000375608,;MCF2L,missense_variant,p.Val170Ile,ENST00000535094,;MCF2L,missense_variant,p.Val174Ile,ENST00000421756,;MCF2L,missense_variant,p.Val227Ile,ENST00000375604,;MCF2L,downstream_gene_variant,,ENST00000409954,;MCF2L,upstream_gene_variant,,ENST00000475524,;MCF2L,non_coding_transcript_exon_variant,,ENST00000464800,;	667	71	57	SUCCESS
RASA3	22821	.	GRCh37	13	114784388	114784388	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768453488	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	44	107	0	ENST00000334062.7:c.793C>A	p.Leu265Ile	p.L265I	ENST00000334062	NM_007368.2	265	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS32016.1	793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGAAGT	NONE	.	.	hmmpanther:PTHR10194:SF53,hmmpanther:PTHR10194,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000335029	.	10/24	.	.	.	.	.	.	.	.	rs768453488	10/24	PASS	ENST00000334062	Transcript	.	.	ENSG00000185989	20331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	RASA3_HUMAN	RASA3	HGNC	F8W6X8_HUMAN	.	UPI000000DBC1	SNV	RASA3,missense_variant,p.Leu233Ile,ENST00000389544,;RASA3,missense_variant,p.Leu265Ile,ENST00000334062,;RASA3,3_prime_UTR_variant,,ENST00000542651,;	915	107	94	SUCCESS
MIPEP	4285	.	GRCh37	13	24413824	24413824	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	35	85	0	ENST00000382172.3:c.1302C>T	p.Tyr434=	p.Y434=	ENST00000382172	NM_005932.3	434	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS9303.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGTAAAT	NONE	.	.	hmmpanther:PTHR11804:SF5,hmmpanther:PTHR11804,Gene3D:3.40.390.10,Pfam_domain:PF01432,Superfamily_domains:SSF55486	.	.	ENSP00000371607	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000382172	Transcript	.	.	ENSG00000027001	7104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIPEP_HUMAN	MIPEP	HGNC	.	.	UPI000013C54A	SNV	MIPEP,synonymous_variant,p.%3D,ENST00000382172,;MIPEP,downstream_gene_variant,,ENST00000494139,;	1401	85	51	SUCCESS
MIPEP	4285	.	GRCh37	13	24413861	24413861	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	23	61	0	ENST00000382172.3:c.1265T>C	p.Val422Ala	p.V422A	ENST00000382172	NM_005932.3	422	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS9303.1	1265	MUTECT|MUSE	.	GAACAACAGCC	NONE	.	.	hmmpanther:PTHR11804:SF5,hmmpanther:PTHR11804,Gene3D:3.40.390.10,Pfam_domain:PF01432,Superfamily_domains:SSF55486	.	.	ENSP00000371607	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000382172	Transcript	.	.	ENSG00000027001	7104	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.951)	.	deleterious(0.03)	.	MIPEP_HUMAN	MIPEP	HGNC	.	.	UPI000013C54A	SNV	MIPEP,missense_variant,p.Val422Ala,ENST00000382172,;MIPEP,downstream_gene_variant,,ENST00000494139,;	1364	61	38	SUCCESS
SPATA13	221178	.	GRCh37	13	24858385	24858385	+	synonymous_variant	Silent	SNP	C	C	T	rs1027158172	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	66	0	ENST00000382095.4:c.402C>T	p.Gly134=	p.G134=	ENST00000382095	NM_153023.2	134	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS53857.1	2277	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGGGGA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103,Superfamily_domains:SSF50044	.	.	ENSP00000398560	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,synonymous_variant,p.%3D,ENST00000382108,;SPATA13,synonymous_variant,p.%3D,ENST00000382095,;SPATA13,synonymous_variant,p.%3D,ENST00000409126,;SPATA13,synonymous_variant,p.%3D,ENST00000399949,;SPATA13,synonymous_variant,p.%3D,ENST00000454083,;SPATA13,synonymous_variant,p.%3D,ENST00000343003,;SPATA13,synonymous_variant,p.%3D,ENST00000424834,;SPATA13,synonymous_variant,p.%3D,ENST00000434675,;RP11-307N16.6,synonymous_variant,p.%3D,ENST00000382141,;	2750	66	29	SUCCESS
NBEA	26960	.	GRCh37	13	35615180	35615180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	40	115	0	ENST00000400445.3:c.405A>T	p.Glu135Asp	p.E135D	ENST00000400445	NM_015678.4	135	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45026.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAAATATG	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	2/58	.	.	.	.	.	.	.	.	.	2/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Glu135Asp,ENST00000400445,;NBEA,missense_variant,p.Glu135Asp,ENST00000540320,;NBEA,missense_variant,p.Glu135Asp,ENST00000310336,;NBEA,missense_variant,p.Glu135Asp,ENST00000379939,;	939	115	48	SUCCESS
ENOX1	55068	.	GRCh37	13	43843689	43843689	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	23	67	0	ENST00000261488.6:c.1471T>G	p.Leu491Val	p.L491V	ENST00000261488	NM_017993.3	491	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS9389.1	1471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAACTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16001:SF6,hmmpanther:PTHR16001	.	.	ENSP00000261488	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000261488	Transcript	.	.	ENSG00000120658	25474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.08)	.	ENOX1_HUMAN	ENOX1	HGNC	.	.	UPI0000071D6F	SNV	ENOX1,missense_variant,p.Leu491Val,ENST00000412891,;ENOX1,missense_variant,p.Leu491Val,ENST00000261488,;	2049	67	29	SUCCESS
TDRD3	81550	.	GRCh37	13	60971456	60971456	+	intron_variant	Intron	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	26	0	ENST00000196169.3:c.-235+316del		p.*79*	ENST00000196169	NM_001146071.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS53872.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATCACCCCCA	NONE	.	.	.	.	.	ENSP00000440190	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000535286	Transcript	.	.	ENSG00000083544	20612	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TDRD3_HUMAN	TDRD3	HGNC	B1AMN9_HUMAN	.	UPI000174200C	deletion	TDRD3,5_prime_UTR_variant,,ENST00000535286,;TDRD3,intron_variant,,ENST00000377894,;TDRD3,intron_variant,,ENST00000196169,;TDRD3,upstream_gene_variant,,ENST00000377881,;TDRD3,intron_variant,,ENST00000484389,;	30	26	23	SUCCESS
PCDH9	5101	.	GRCh37	13	67799558	67799558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	76	148	0	ENST00000377865.2:c.3015G>T	p.Lys1005Asn	p.K1005N	ENST00000377865		1005	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9444.1	3015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCTTTGT	BUFFER|p.K1003K|c.3009G>A|3	.	.	hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	tolerated(0.41)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Lys1005Asn,ENST00000377861,;PCDH9,missense_variant,p.Lys1005Asn,ENST00000328454,;PCDH9,missense_variant,p.Lys1005Asn,ENST00000544246,;PCDH9,missense_variant,p.Lys1005Asn,ENST00000377865,;PCDH9,missense_variant,p.Lys1005Asn,ENST00000456367,;	3707	148	167	SUCCESS
SLITRK6	84189	.	GRCh37	13	86369655	86369655	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	60	0	ENST00000400286.2:c.989del	p.Pro330LeufsTer15	p.P330Lfs*15	ENST00000400286	NM_032229.2	330	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS41903.1	989	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAATAGGGCAG	NONE	.	.	Superfamily_domains:SSF52058,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	deletion	SLITRK6,frameshift_variant,p.Pro330LeufsTer15,ENST00000400286,;	1588	60	83	SUCCESS
DZIP1	22873	.	GRCh37	13	96239850	96239850	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	93	0	ENST00000347108.3:c.2161G>A	p.Ala721Thr	p.A721T	ENST00000347108		721	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9478.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGCGTCAC	NONE	.	.	hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5	.	.	ENSP00000257312	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000347108	Transcript	.	.	ENSG00000134874	20908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	DZIP1_HUMAN	DZIP1	HGNC	B3KSP1_HUMAN	.	UPI000000D9B8	SNV	DZIP1,missense_variant,p.Ala721Thr,ENST00000376829,;DZIP1,missense_variant,p.Ala702Thr,ENST00000361396,;DZIP1,missense_variant,p.Ala702Thr,ENST00000361156,;DZIP1,missense_variant,p.Ala721Thr,ENST00000347108,;DZIP1,non_coding_transcript_exon_variant,,ENST00000479518,;DZIP1,non_coding_transcript_exon_variant,,ENST00000485031,;	2594	93	94	SUCCESS
DZIP1	22873	.	GRCh37	13	96274617	96274617	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1489638336	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	61	0	ENST00000347108.3:c.1090A>G	p.Met364Val	p.M364V	ENST00000347108		364	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9478.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATGACAT	NONE	.	.	hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5	.	.	ENSP00000257312	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000347108	Transcript	.	.	ENSG00000134874	20908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.64)	.	DZIP1_HUMAN	DZIP1	HGNC	B3KSP1_HUMAN	.	UPI000000D9B8	SNV	DZIP1,missense_variant,p.Met364Val,ENST00000376829,;DZIP1,missense_variant,p.Met364Val,ENST00000361396,;DZIP1,missense_variant,p.Met364Val,ENST00000361156,;DZIP1,missense_variant,p.Met364Val,ENST00000347108,;DZIP1,3_prime_UTR_variant,,ENST00000466569,;	1523	61	78	SUCCESS
DOCK9	23348	.	GRCh37	13	99449441	99449441	+	synonymous_variant	Silent	SNP	G	G	A	rs55665657	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	140	0	ENST00000376460.1:c.6126C>T	p.Leu2042=	p.L2042=	ENST00000376460	NM_015296.2	2042	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45062.1	6126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCGAGCTG	NONE	.	.	Pfam_domain:PF06920,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77,PROSITE_profiles:PS51651	.	.	ENSP00000365643	.	55/57	.	.	.	.	.	.	.	.	rs55665657	55/57	PASS	ENST00000376460	Transcript	.	.	ENSG00000088387	14132	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK9_HUMAN	DOCK9	HGNC	.	.	UPI000046FD7F	SNV	DOCK9,synonymous_variant,p.%3D,ENST00000376460,;DOCK9,synonymous_variant,p.%3D,ENST00000339416,;DOCK9,synonymous_variant,p.%3D,ENST00000400228,;DOCK9,downstream_gene_variant,,ENST00000419908,;	6207	140	122	SUCCESS
WDR20	91833	.	GRCh37	14	102675272	102675272	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	100	0	ENST00000342702.3:c.765C>T	p.His255=	p.H255=	ENST00000342702	NM_144574.3	255	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS55943.1	858	MUTECT|MUSE	.	CTGCACGGTAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF5,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000406084	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000454394	Transcript	.	.	ENSG00000140153	19667	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR20_HUMAN	WDR20	HGNC	H0YNU0_HUMAN,F5H8E6_HUMAN,B3KPG5_HUMAN	.	UPI0000E23AC1	SNV	WDR20,synonymous_variant,p.%3D,ENST00000545563,;WDR20,synonymous_variant,p.%3D,ENST00000335263,;WDR20,synonymous_variant,p.%3D,ENST00000556511,;WDR20,synonymous_variant,p.%3D,ENST00000342702,;WDR20,synonymous_variant,p.%3D,ENST00000424963,;WDR20,synonymous_variant,p.%3D,ENST00000556807,;WDR20,synonymous_variant,p.%3D,ENST00000454394,;WDR20,5_prime_UTR_variant,,ENST00000499851,;WDR20,3_prime_UTR_variant,,ENST00000299135,;WDR20,intron_variant,,ENST00000322340,;WDR20,intron_variant,,ENST00000559478,;WDR20,downstream_gene_variant,,ENST00000558854,;WDR20,non_coding_transcript_exon_variant,,ENST00000558135,;WDR20,downstream_gene_variant,,ENST00000559708,;WDR20,downstream_gene_variant,,ENST00000558448,;WDR20,downstream_gene_variant,,ENST00000555973,;WDR20,downstream_gene_variant,,ENST00000557485,;WDR20,3_prime_UTR_variant,,ENST00000555879,;WDR20,intron_variant,,ENST00000556094,;	868	100	105	SUCCESS
INF2	64423	.	GRCh37	14	105168020	105168020	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	58	0	ENST00000392634.4:c.318C>T	p.Arg106=	p.R106=	ENST00000392634	NM_022489.3	106	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9989.2	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGCGCCGT	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF06371,Superfamily_domains:SSF48371	.	.	ENSP00000376410	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000392634	Transcript	1	.	ENSG00000203485	23791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,synonymous_variant,p.%3D,ENST00000330634,;INF2,synonymous_variant,p.%3D,ENST00000392634,;INF2,synonymous_variant,p.%3D,ENST00000398337,;	430	58	48	SUCCESS
TTC5	91875	.	GRCh37	14	20757848	20757848	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	82	0	ENST00000258821.3:c.1261A>T	p.Lys421Ter	p.K421*	ENST00000258821	NM_138376.2	421	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS9546.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTTCCCAT	NONE	.	.	.	.	.	ENSP00000258821	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000258821	Transcript	.	.	ENSG00000136319	19274	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC5_HUMAN	TTC5	HGNC	.	.	UPI000013D00B	SNV	TTC5,stop_gained,p.Lys366Ter,ENST00000423949,;TTC5,stop_gained,p.Lys421Ter,ENST00000258821,;TTC5,upstream_gene_variant,,ENST00000556592,;TTC5,3_prime_UTR_variant,,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;	1318	82	71	SUCCESS
TTC5	91875	.	GRCh37	14	20767596	20767597	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	36	0	ENST00000258821.3:c.407_408del	p.Lys136SerfsTer16	p.K136Sfs*16	ENST00000258821	NM_138376.2	136	aAA/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS9546.1	407-408	VARSCANI*|PINDEL	.	GGAGACTTTGTTC	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR26312:SF69,hmmpanther:PTHR26312,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000258821	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000258821	Transcript	.	.	ENSG00000136319	19274	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTC5_HUMAN	TTC5	HGNC	.	.	UPI000013D00B	deletion	TTC5,frameshift_variant,p.Lys136SerfsTer16,ENST00000258821,;TTC5,intron_variant,,ENST00000423949,;TTC5,downstream_gene_variant,,ENST00000553828,;TTC5,frameshift_variant,p.Leu115ProfsTer91,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;TTC5,downstream_gene_variant,,ENST00000557379,;	464-465	36	44	SUCCESS
RNASE7	84659	.	GRCh37	14	21511475	21511475	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	99	0	ENST00000298690.4:c.324G>A	p.Met108Ile	p.M108I	ENST00000298690	NM_032572.3	108	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS41914.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATGTGTAA	NONE	.	.	hmmpanther:PTHR11437:SF25,hmmpanther:PTHR11437,Pfam_domain:PF00074,Gene3D:3.10.130.10,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794	.	.	ENSP00000298690	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298690	Transcript	.	.	ENSG00000165799	19278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	RNAS7_HUMAN	RNASE7	HGNC	.	.	UPI000013E505	SNV	RNASE7,missense_variant,p.Met108Ile,ENST00000298690,;NDRG2,intron_variant,,ENST00000555026,;NDRG2,intron_variant,,ENST00000403829,;RNASE7,missense_variant,p.Met108Ile,ENST00000481538,;	581	99	86	SUCCESS
ZNF219	51222	.	GRCh37	14	21560611	21560611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	88	0	ENST00000360947.3:c.845G>T	p.Ser282Ile	p.S282I	ENST00000360947	NM_016423.2	282	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS9568.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGCTCTGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Prints_domain:PR01471	.	.	ENSP00000354206	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000360947	Transcript	.	.	ENSG00000165804	13011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.12)	.	ZN219_HUMAN	ZNF219	HGNC	G3V4T1_HUMAN,G3V452_HUMAN,G3V2W3_HUMAN,G3V2Q8_HUMAN,G3V2E3_HUMAN	.	UPI000013E507	SNV	ZNF219,missense_variant,p.Ser282Ile,ENST00000360947,;ZNF219,missense_variant,p.Ser282Ile,ENST00000451119,;ZNF219,missense_variant,p.Ser282Ile,ENST00000421093,;ARHGEF40,downstream_gene_variant,,ENST00000298694,;ZNF219,downstream_gene_variant,,ENST00000553296,;ZNF219,downstream_gene_variant,,ENST00000554923,;ARHGEF40,downstream_gene_variant,,ENST00000298693,;ZNF219,downstream_gene_variant,,ENST00000556174,;ZNF219,downstream_gene_variant,,ENST00000555697,;ZNF219,downstream_gene_variant,,ENST00000555270,;ZNF219,downstream_gene_variant,,ENST00000554478,;ZNF219,downstream_gene_variant,,ENST00000553980,;RP11-998D10.7,downstream_gene_variant,,ENST00000554733,;ZNF219,downstream_gene_variant,,ENST00000556101,;ARHGEF40,downstream_gene_variant,,ENST00000557498,;ZNF219,downstream_gene_variant,,ENST00000556944,;ARHGEF40,downstream_gene_variant,,ENST00000556399,;ARHGEF40,downstream_gene_variant,,ENST00000553709,;ARHGEF40,downstream_gene_variant,,ENST00000554514,;	1257	88	80	SUCCESS
OR4E2	26686	.	GRCh37	14	22133945	22133945	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	8	142	0	ENST00000408935.1:c.649T>A	p.Ser217Thr	p.S217T	ENST00000408935	NM_001001912.1	217	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS41916.1	649	MUTECT|MUSE	.	TCACCTCCTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF160,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000386195	.	1/1	.	.	.	.	.	.	.	.	COSM3667606	1/1	PASS	ENST00000408935	Transcript	.	.	ENSG00000221977	8297	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	OR4E2_HUMAN	OR4E2	HGNC	.	.	UPI0000041D88	SNV	OR4E2,missense_variant,p.Ser217Thr,ENST00000408935,;OR4E1,downstream_gene_variant,,ENST00000303519,;OR4E1,downstream_gene_variant,,ENST00000413808,;	649	142	174	SUCCESS
MMP14	4323	.	GRCh37	14	23315224	23315224	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	61	0	ENST00000311852.6:c.1725G>A	p.Gln575=	p.Q575=	ENST00000311852	NM_004995.3	575	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS9577.1	1725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGCGTTC	NONE	.	.	Pfam_domain:PF11857	.	.	ENSP00000308208	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000311852	Transcript	.	.	ENSG00000157227	7160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,synonymous_variant,p.%3D,ENST00000311852,;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,intron_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	1986	61	50	SUCCESS
SLC7A8	23428	.	GRCh37	14	23652042	23652042	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	68	0	ENST00000316902.7:c.82G>C	p.Gly28Arg	p.G28R	ENST00000316902	NM_012244.3	28	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS9590.1	82	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCAGCCT	NONE	.	.	hmmpanther:PTHR11785:SF113,hmmpanther:PTHR11785,TIGRFAM_domain:TIGR00911	.	.	ENSP00000320378	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000316902	Transcript	.	.	ENSG00000092068	11066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.18)	.	LAT2_HUMAN	SLC7A8	HGNC	E9PQT4_HUMAN,E9PIC3_HUMAN,B3KSX4_HUMAN	.	UPI000012E235	SNV	SLC7A8,missense_variant,p.Gly28Arg,ENST00000316902,;SLC7A8,missense_variant,p.Gly28Arg,ENST00000525062,;SLC7A8,missense_variant,p.Gly28Arg,ENST00000469263,;SLC7A8,missense_variant,p.Gly28Arg,ENST00000524758,;C14orf164,upstream_gene_variant,,ENST00000492621,;C14orf164,upstream_gene_variant,,ENST00000399910,;C14orf164,upstream_gene_variant,,ENST00000498441,;	808	68	64	SUCCESS
SLC22A17	51310	.	GRCh37	14	23821160	23821160	+	synonymous_variant	Silent	SNP	G	G	A	rs1452949392	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	213	136	361	1	ENST00000206544.8:c.264C>T	p.Gly88=	p.G88=	ENST00000206544	NM_020372.2	88	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9593.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGCCGAT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216	.	.	ENSP00000380437	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000397267	Transcript	.	.	ENSG00000092096	23095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AH_HUMAN	SLC22A17	HGNC	.	.	UPI0000126A49	SNV	SLC22A17,missense_variant,p.Ala12Val,ENST00000397260,;SLC22A17,synonymous_variant,p.%3D,ENST00000354772,;SLC22A17,synonymous_variant,p.%3D,ENST00000206544,;SLC22A17,synonymous_variant,p.%3D,ENST00000397267,;EFS,downstream_gene_variant,,ENST00000351354,;EFS,downstream_gene_variant,,ENST00000216733,;EFS,downstream_gene_variant,,ENST00000429593,;RP11-124D2.3,upstream_gene_variant,,ENST00000554010,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,upstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000556803,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000557699,;SLC22A17,upstream_gene_variant,,ENST00000473917,;	727	362	350	SUCCESS
MYH6	4624	.	GRCh37	14	23863388	23863388	+	synonymous_variant	Silent	SNP	G	G	A	rs148596692	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	45	101	0	ENST00000356287.3:c.2574C>T	p.Phe858=	p.F858=	ENST00000356287		858	ttC/ttT	0	A:0.0002	.	.	.	.	A	F	protein_coding	YES	CCDS9600.1	2574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGAACTC	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	A:0.0002	ENSP00000386041	.	21/39	.	.	.	.	.	.	.	.	rs148596692,COSM1180453	21/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,synonymous_variant,p.%3D,ENST00000405093,;MYH6,synonymous_variant,p.%3D,ENST00000356287,;	2645	101	91	SUCCESS
DHRS4L2	317749	.	GRCh37	14	24470144	24470144	+	splice_donor_variant	Splice_Site	DEL	T	T	-	rs375757538	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	540	89	537	0	ENST00000335125.6:c.479+2del		p.X160_splice	ENST00000335125	NM_198083.3	160		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9606.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGGGTACAGA	NONE	.	.	.	.	.	ENSP00000334801	.	.	.	.	.	.	.	.	.	.	rs375757538	.	PASS	ENST00000335125	Transcript	.	.	ENSG00000187630	19731	.	.	HIGH	4/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DR4L2_HUMAN	DHRS4L2	HGNC	H0YLE1_HUMAN	.	UPI000013F4CD	deletion	DHRS4L2,splice_donor_variant,,ENST00000559387,;DHRS4L2,splice_donor_variant,,ENST00000382755,;DHRS4L2,splice_donor_variant,,ENST00000559411,;DHRS4L2,splice_donor_variant,,ENST00000560276,;DHRS4L2,splice_donor_variant,,ENST00000335125,;DHRS4L2,intron_variant,,ENST00000558753,;DHRS4L2,intron_variant,,ENST00000537912,;DHRS4L2,intron_variant,,ENST00000397071,;DHRS4L2,intron_variant,,ENST00000534993,;DHRS4L2,intron_variant,,ENST00000545240,;DHRS4L2,intron_variant,,ENST00000543805,;DHRS4L2,non_coding_transcript_exon_variant,,ENST00000557812,;	.	537	629	SUCCESS
CPNE6	9362	.	GRCh37	14	24542179	24542179	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	45	0	ENST00000397016.2:c.34C>G	p.Pro12Ala	p.P12A	ENST00000397016	NM_001280558.1	12	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS9607.1	34	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCCCCCA	NONE	.	.	hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF5	.	.	ENSP00000380211	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000397016	Transcript	.	.	ENSG00000100884	2319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.08)	.	CPNE6_HUMAN	CPNE6	HGNC	H0YNX4_HUMAN,H0YNV2_HUMAN,H0YNP2_HUMAN,H0YNM7_HUMAN,H0YM67_HUMAN,H0YLV2_HUMAN,H0YLS9_HUMAN,H0YK44_HUMAN,B3KWK1_HUMAN	.	UPI000013C707	SNV	CPNE6,missense_variant,p.Pro12Ala,ENST00000558541,;CPNE6,missense_variant,p.Pro12Ala,ENST00000560828,;CPNE6,missense_variant,p.Pro12Ala,ENST00000560884,;CPNE6,missense_variant,p.Pro12Ala,ENST00000559197,;CPNE6,missense_variant,p.Pro67Ala,ENST00000537691,;CPNE6,missense_variant,p.Pro12Ala,ENST00000557889,;CPNE6,missense_variant,p.Pro12Ala,ENST00000560356,;CPNE6,missense_variant,p.Pro12Ala,ENST00000560761,;CPNE6,missense_variant,p.Pro12Ala,ENST00000216775,;CPNE6,missense_variant,p.Pro12Ala,ENST00000558450,;CPNE6,missense_variant,p.Pro12Ala,ENST00000559778,;CPNE6,missense_variant,p.Pro12Ala,ENST00000397016,;CPNE6,intron_variant,,ENST00000558859,;CPNE6,intron_variant,,ENST00000559207,;LRRC16B,downstream_gene_variant,,ENST00000334420,;LRRC16B,downstream_gene_variant,,ENST00000342740,;CPNE6,intron_variant,,ENST00000560092,;CPNE6,missense_variant,p.Pro12Ala,ENST00000558795,;CPNE6,non_coding_transcript_exon_variant,,ENST00000558995,;CPNE6,non_coding_transcript_exon_variant,,ENST00000460657,;CPNE6,upstream_gene_variant,,ENST00000560845,;CPNE6,upstream_gene_variant,,ENST00000557829,;LRRC16B,downstream_gene_variant,,ENST00000560349,;LRRC16B,downstream_gene_variant,,ENST00000559694,;	345	45	57	SUCCESS
IPO4	79711	.	GRCh37	14	24654474	24654474	+	synonymous_variant	Silent	SNP	G	G	A	rs369559477	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	125	0	ENST00000354464.6:c.1323C>T	p.Leu441=	p.L441=	ENST00000354464	NM_024658.3	441	ctC/ctT	0	A:0.0005	.	.	.	.	A	L	protein_coding	YES	CCDS9616.1	1323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCGAGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Pfam_domain:PF13646,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	A:0	ENSP00000346453	.	14/30	.	.	.	.	.	.	.	.	rs369559477	14/30	PASS	ENST00000354464	Transcript	.	.	ENSG00000196497	19426	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO4_HUMAN	IPO4	HGNC	Q6I9Y8_HUMAN,D3DS63_HUMAN	.	UPI000013CCB3	SNV	IPO4,synonymous_variant,p.%3D,ENST00000354464,;TM9SF1,downstream_gene_variant,,ENST00000261789,;TM9SF1,downstream_gene_variant,,ENST00000396854,;TM9SF1,downstream_gene_variant,,ENST00000524835,;TM9SF1,downstream_gene_variant,,ENST00000530611,;IPO4,upstream_gene_variant,,ENST00000558233,;IPO4,upstream_gene_variant,,ENST00000561462,;TM9SF1,downstream_gene_variant,,ENST00000528669,;TM9SF1,downstream_gene_variant,,ENST00000532632,;TM9SF1,downstream_gene_variant,,ENST00000556387,;IPO4,synonymous_variant,p.%3D,ENST00000560155,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000558046,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,downstream_gene_variant,,ENST00000558193,;IPO4,downstream_gene_variant,,ENST00000557996,;IPO4,downstream_gene_variant,,ENST00000560315,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,upstream_gene_variant,,ENST00000560935,;IPO4,downstream_gene_variant,,ENST00000561034,;IPO4,downstream_gene_variant,,ENST00000560222,;TM9SF1,downstream_gene_variant,,ENST00000529332,;IPO4,downstream_gene_variant,,ENST00000559635,;IPO4,downstream_gene_variant,,ENST00000559253,;IPO4,downstream_gene_variant,,ENST00000558718,;	1500	125	112	SUCCESS
RIPK3	11035	.	GRCh37	14	24805599	24805599	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	rs186368014	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	38	0	ENST00000216274.5:c.1339C>T	p.Arg447Ter	p.R447*	ENST00000216274	NM_006871.3	447	Cga/Tga	0	.	A:0	.	A:0.0014	.	A	R/*	protein_coding	YES	CCDS9628.1	1339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGCCCTT	NONE	byCluster|by1000G	.	Pfam_domain:PF12721	A:0	.	ENSP00000216274	A:0	10/10	.	.	.	.	.	.	.	.	rs186368014,COSM955043	10/10	PASS	ENST00000216274	Transcript	.	A:0.0002	ENSG00000129465	10021	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	RIPK3_HUMAN	RIPK3	HGNC	.	.	UPI00000369E2	SNV	RIPK3,stop_gained,p.Arg447Ter,ENST00000216274,;RP11-934B9.3,intron_variant,,ENST00000555591,;ADCY4,upstream_gene_variant,,ENST00000396747,;RIPK3,downstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000310677,;ADCY4,upstream_gene_variant,,ENST00000559167,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,splice_region_variant,,ENST00000554756,;RIPK3,downstream_gene_variant,,ENST00000557253,;ADCY4,upstream_gene_variant,,ENST00000554577,;RIPK3,downstream_gene_variant,,ENST00000557662,;ADCY4,upstream_gene_variant,,ENST00000554674,;RIPK3,downstream_gene_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;	1558	39	49	SUCCESS
RIPK3	11035	.	GRCh37	14	24806911	24806911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	121	0	ENST00000216274.5:c.890C>T	p.Ala297Val	p.A297V	ENST00000216274	NM_006871.3	297	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9628.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGCAGCA	NONE	.	.	hmmpanther:PTHR23257:SF346,hmmpanther:PTHR23257	.	.	ENSP00000216274	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000216274	Transcript	.	.	ENSG00000129465	10021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	RIPK3_HUMAN	RIPK3	HGNC	.	.	UPI00000369E2	SNV	RIPK3,missense_variant,p.Ala297Val,ENST00000216274,;ADCY4,upstream_gene_variant,,ENST00000396747,;RIPK3,upstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000559167,;ADCY4,upstream_gene_variant,,ENST00000310677,;RP11-934B9.3,upstream_gene_variant,,ENST00000555591,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,3_prime_UTR_variant,,ENST00000554756,;RIPK3,downstream_gene_variant,,ENST00000557253,;RIPK3,downstream_gene_variant,,ENST00000557662,;RIPK3,downstream_gene_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;	1109	121	99	SUCCESS
NYNRIN	57523	.	GRCh37	14	24877520	24877520	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	21	0	ENST00000382554.3:c.644A>G	p.His215Arg	p.H215R	ENST00000382554	NM_025081.2	215	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45090.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCACTCCG	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.49)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.His215Arg,ENST00000382554,;NYNRIN,upstream_gene_variant,,ENST00000554505,;	962	21	36	SUCCESS
BNIP3P1	319138	.	GRCh37	14	28734126	28734126	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	63	0	ENST00000550043.1:n.531G>A		p.*177*	ENST00000550043				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCGGCCGG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000550043	Transcript	.	.	ENSG00000197358	19922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	BNIP3P1	HGNC	.	.	.	SNV	BNIP3P1,non_coding_transcript_exon_variant,,ENST00000550043,;BNIP3P1,non_coding_transcript_exon_variant,,ENST00000547295,;BNIP3P1,non_coding_transcript_exon_variant,,ENST00000355069,;	531	63	53	SUCCESS
DTD2	112487	.	GRCh37	14	31926576	31926576	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	81	203	0	ENST00000310850.4:c.24T>G	p.Pro8=	p.P8=	ENST00000310850	NM_080664.2	8	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9643.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGAGGAAT	BUFFER|p.R6W|c.16C>T|5	.	.	Gene3D:3.50.80.10	.	.	ENSP00000312224	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000310850	Transcript	.	.	ENSG00000129480	20277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTD2_HUMAN	DTD2	HGNC	.	.	UPI000006F286	SNV	DTD2,synonymous_variant,p.%3D,ENST00000356180,;DTD2,synonymous_variant,p.%3D,ENST00000310850,;RP11-176H8.1,synonymous_variant,p.%3D,ENST00000547378,;CTD-2213F21.2,downstream_gene_variant,,ENST00000502430,;RP11-176H8.1,synonymous_variant,p.%3D,ENST00000549185,;RP11-176H8.1,synonymous_variant,p.%3D,ENST00000547760,;DTD2,synonymous_variant,p.%3D,ENST00000549850,;	141	203	199	SUCCESS
FSCB	84075	.	GRCh37	14	44974051	44974051	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138388824	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	42	127	0	ENST00000340446.4:c.2140G>A	p.Val714Ile	p.V714I	ENST00000340446	NM_032135.3	714	Gtt/Att	0	T:0.0002	.	.	.	.	T	V/I	protein_coding	YES	CCDS9679.1	2140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAACGGAGG	NONE	byFrequency|byCluster	.	.	.	T:0.0008	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	rs138388824,COSM269203	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	tolerated(0.23)	0,1	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,missense_variant,p.Val714Ile,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	2432	127	116	SUCCESS
PRPF39	55015	.	GRCh37	14	45579384	45579384	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1248578210	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	61	192	0	ENST00000355765.6:c.1264A>G	p.Met422Val	p.M422V	ENST00000355765	NM_017922.3	422	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS9682.2	1264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCATGGTG	NONE	.	.	hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204,Gene3D:1.25.40.10,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000348010	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000355765	Transcript	.	.	ENSG00000185246	20314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.12)	.	PRP39_HUMAN	PRPF39	HGNC	.	.	UPI00015BB2D5	SNV	PRPF39,missense_variant,p.Met422Val,ENST00000355765,;SNORD127,upstream_gene_variant,,ENST00000458892,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,non_coding_transcript_exon_variant,,ENST00000556718,;PRPF39,non_coding_transcript_exon_variant,,ENST00000554785,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;PRPF39,downstream_gene_variant,,ENST00000557477,;	1434	192	168	SUCCESS
NEMF	9147	.	GRCh37	14	50295521	50295521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	80	249	2	ENST00000298310.5:c.1237C>A	p.Pro413Thr	p.P413T	ENST00000298310		413	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9694.1	1237	RADIA|SOMATICSNIPER|VARSCANS	.	GTATGGATTTC	NONE	.	.	hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1,Pfam_domain:PF05833	.	.	ENSP00000298310	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000298310	Transcript	.	.	ENSG00000165525	10663	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NEMF_HUMAN	NEMF	HGNC	.	.	UPI0000246D16	SNV	NEMF,missense_variant,p.Pro413Thr,ENST00000546046,;NEMF,missense_variant,p.Pro371Thr,ENST00000555970,;NEMF,missense_variant,p.Pro413Thr,ENST00000298310,;NEMF,missense_variant,p.Pro371Thr,ENST00000545773,;AL627171.2,downstream_gene_variant,,ENST00000595378,;NEMF,non_coding_transcript_exon_variant,,ENST00000557380,;NEMF,intron_variant,,ENST00000556925,;NEMF,upstream_gene_variant,,ENST00000555411,;NEMF,non_coding_transcript_exon_variant,,ENST00000553696,;NEMF,intron_variant,,ENST00000556882,;	1687	251	223	SUCCESS
SOS2	6655	.	GRCh37	14	50597348	50597348	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760192938	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	84	192	0	ENST00000216373.5:c.3208C>T	p.Arg1070Trp	p.R1070W	ENST00000216373	NM_006939.2	1070	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9697.1	3208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCGACTAA	NONE	.	.	.	.	.	ENSP00000216373	.	20/23	.	.	.	.	.	.	.	.	rs760192938	20/23	PASS	ENST00000216373	Transcript	.	.	ENSG00000100485	11188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	SOS2_HUMAN	SOS2	HGNC	B4DJ05_HUMAN	.	UPI000013C6E8	SNV	SOS2,missense_variant,p.Arg1037Trp,ENST00000543680,;SOS2,missense_variant,p.Arg1070Trp,ENST00000216373,;	3483	192	198	SUCCESS
CDKL1	8814	.	GRCh37	14	50829688	50829688	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	74	0	ENST00000395834.1:c.172-3821C>T		p.*58*	ENST00000395834	NM_004196.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9699.1	.	MUTECT|MUSE	.	GGTCCGCACTG	NONE	.	.	.	.	.	ENSP00000379176	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395834	Transcript	.	.	ENSG00000100490	1781	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDKL1_HUMAN	CDKL1	HGNC	.	.	UPI000013C6E9	SNV	CDKL1,intron_variant,,ENST00000216378,;CDKL1,intron_variant,,ENST00000395834,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,intron_variant,,ENST00000528197,;CDKL1,intron_variant,,ENST00000531052,;	.	74	90	SUCCESS
PTGER2	5732	.	GRCh37	14	52781730	52781730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	57	0	ENST00000245457.5:c.464C>A	p.Ala155Asp	p.A155D	ENST00000245457	NM_000956.3	155	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS9708.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCCGTGC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR11866:SF8,hmmpanther:PTHR11866,PROSITE_profiles:PS50262	.	.	ENSP00000245457	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000245457	Transcript	.	.	ENSG00000125384	9594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.723)	.	deleterious(0)	.	PE2R2_HUMAN	PTGER2	HGNC	G3V2Y6_HUMAN	.	UPI000013CBA3	SNV	PTGER2,missense_variant,p.Ala155Asp,ENST00000245457,;PTGER2,intron_variant,,ENST00000557436,;	618	57	49	SUCCESS
ERO1L	0	.	GRCh37	14	53124715	53124715	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	256	174	426	0	ENST00000395686.3:c.728A>G	p.Glu243Gly	p.E243G	ENST00000395686	NM_014584.1	243	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS9709.1	728	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TTTTTTCTACA	NONE	.	.	Superfamily_domains:0043331,PIRSF_domain:PIRSF017205,Pfam_domain:PF04137,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF1	.	.	ENSP00000379042	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000395686	Transcript	.	.	ENSG00000197930	13280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ERO1A_HUMAN	ERO1L	HGNC	G3V2H0_HUMAN	.	UPI000004BA63	SNV	ERO1L,missense_variant,p.Glu243Gly,ENST00000395686,;ERO1L,5_prime_UTR_variant,,ENST00000556358,;ERO1L,synonymous_variant,p.%3D,ENST00000556039,;ERO1L,synonymous_variant,p.%3D,ENST00000554019,;ERO1L,non_coding_transcript_exon_variant,,ENST00000556769,;	952	426	431	SUCCESS
KTN1	3895	.	GRCh37	14	56094630	56094630	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	54	130	0	ENST00000395314.3:c.964T>A	p.Ser322Thr	p.S322T	ENST00000395314	NM_001079521.1	322	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS41957.1	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTCAAGT	NONE	.	.	hmmpanther:PTHR18864	.	.	ENSP00000378725	.	6/44	.	.	.	.	.	.	.	.	.	6/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,missense_variant,p.Ser322Thr,ENST00000395308,;KTN1,missense_variant,p.Ser322Thr,ENST00000438792,;KTN1,missense_variant,p.Ser322Thr,ENST00000395309,;KTN1,missense_variant,p.Ser322Thr,ENST00000413890,;KTN1,missense_variant,p.Ser322Thr,ENST00000395311,;KTN1,missense_variant,p.Ser322Thr,ENST00000395314,;KTN1,missense_variant,p.Ser322Thr,ENST00000416613,;KTN1,splice_region_variant,,ENST00000554567,;KTN1,missense_variant,p.Ser322Thr,ENST00000459737,;	1032	130	136	SUCCESS
TMEM260	54916	.	GRCh37	14	57051736	57051736	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749064908	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	106	0	ENST00000261556.6:c.178G>A	p.Ala60Thr	p.A60T	ENST00000261556	NM_017799.3	60	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS9727.2	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGCACAT	NONE	.	.	hmmpanther:PTHR16214,Pfam_domain:PF11028	.	.	ENSP00000261556	.	2/16	.	.	.	.	.	.	.	.	rs749064908	2/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious(0)	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,missense_variant,p.Ala60Thr,ENST00000261556,;TMEM260,missense_variant,p.Ala60Thr,ENST00000538838,;TMEM260,missense_variant,p.Ala23Thr,ENST00000556810,;TMEM260,5_prime_UTR_variant,,ENST00000536419,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556975,;TMEM260,missense_variant,p.Ala60Thr,ENST00000555497,;TMEM260,missense_variant,p.Ala60Thr,ENST00000539559,;TMEM260,5_prime_UTR_variant,,ENST00000556422,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,upstream_gene_variant,,ENST00000554981,;TMEM260,upstream_gene_variant,,ENST00000556929,;TMEM260,upstream_gene_variant,,ENST00000556079,;	300	106	81	SUCCESS
AP5M1	55745	.	GRCh37	14	57747061	57747061	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	56	136	0	ENST00000261558.3:c.869A>G	p.Asp290Gly	p.D290G	ENST00000261558	NM_018229.3	290	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS9729.1	869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGACTCTG	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR16082:SF2,hmmpanther:PTHR16082,Pfam_domain:PF00928,Gene3D:2.60.40.1170,Superfamily_domains:0038852	.	.	ENSP00000261558	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000261558	Transcript	.	.	ENSG00000053770	20192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	tolerated(0.43)	.	AP5M1_HUMAN	AP5M1	HGNC	H0YIY0_HUMAN,G3V573_HUMAN	.	UPI00000719DE	SNV	AP5M1,missense_variant,p.Asp290Gly,ENST00000261558,;AP5M1,missense_variant,p.Asp304Gly,ENST00000431972,;AP5M1,upstream_gene_variant,,ENST00000554863,;AP5M1,non_coding_transcript_exon_variant,,ENST00000556723,;AP5M1,3_prime_UTR_variant,,ENST00000555448,;AP5M1,downstream_gene_variant,,ENST00000554931,;	1275	136	115	SUCCESS
DACT1	51339	.	GRCh37	14	59113492	59113492	+	synonymous_variant	Silent	SNP	C	C	T	rs760763089	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	88	0	ENST00000335867.4:c.2151C>T	p.Tyr717=	p.Y717=	ENST00000335867		717	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS9736.1	2151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTACGCCTA	NONE	byFrequency	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268	.	.	ENSP00000337439	.	4/4	.	.	.	.	.	.	.	.	rs760763089,COSM1249662	4/4	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	SNV	DACT1,synonymous_variant,p.%3D,ENST00000335867,;DACT1,synonymous_variant,p.%3D,ENST00000395153,;DACT1,synonymous_variant,p.%3D,ENST00000556859,;DACT1,synonymous_variant,p.%3D,ENST00000541264,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	2175	88	71	SUCCESS
L3HYPDH	112849	.	GRCh37	14	59950530	59950530	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	38	0	ENST00000247194.4:c.505A>G	p.Thr169Ala	p.T169A	ENST00000247194	NM_144581.1	169	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9739.1	505	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCTGTGGCCA	NONE	.	.	Pfam_domain:PF05544,Gene3D:3.10.310.10,PIRSF_domain:PIRSF029792,Superfamily_domains:SSF54506	.	.	ENSP00000247194	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000247194	Transcript	.	.	ENSG00000126790	20488	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated(0.67)	.	T3HPD_HUMAN	L3HYPDH	HGNC	D6RC46_HUMAN	.	UPI0000071432	SNV	L3HYPDH,missense_variant,p.Thr169Ala,ENST00000247194,;L3HYPDH,5_prime_UTR_variant,,ENST00000481608,;L3HYPDH,upstream_gene_variant,,ENST00000487285,;JKAMP,upstream_gene_variant,,ENST00000556985,;JKAMP,upstream_gene_variant,,ENST00000425728,;JKAMP,upstream_gene_variant,,ENST00000261247,;JKAMP,upstream_gene_variant,,ENST00000356057,;JKAMP,upstream_gene_variant,,ENST00000554271,;JKAMP,upstream_gene_variant,,ENST00000554795,;RP11-701B16.2,intron_variant,,ENST00000554253,;JKAMP,upstream_gene_variant,,ENST00000554754,;JKAMP,upstream_gene_variant,,ENST00000557560,;L3HYPDH,non_coding_transcript_exon_variant,,ENST00000527981,;JKAMP,upstream_gene_variant,,ENST00000553156,;JKAMP,upstream_gene_variant,,ENST00000553941,;JKAMP,upstream_gene_variant,,ENST00000555491,;JKAMP,upstream_gene_variant,,ENST00000602482,;JKAMP,upstream_gene_variant,,ENST00000554721,;	619	38	29	SUCCESS
MTHFD1	4522	.	GRCh37	14	64921459	64921459	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs746400551	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	24	92	0	ENST00000216605.8:c.2584A>C	p.Ile862Leu	p.I862L	ENST00000216605	NM_005956.3	862	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS9763.1	2584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCATCTGC	NONE	byFrequency	.	Superfamily_domains:SSF52540,Gene3D:1eg7A03,Pfam_domain:PF01268,hmmpanther:PTHR10025:SF30,hmmpanther:PTHR10025,HAMAP:MF_01543	.	.	ENSP00000216605	.	26/28	.	.	.	.	.	.	.	.	rs746400551	26/28	PASS	ENST00000216605	Transcript	.	.	ENSG00000100714	7432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	deleterious(0.02)	.	C1TC_HUMAN	MTHFD1	HGNC	.	.	UPI000013C6FA	SNV	MTHFD1,missense_variant,p.Ile862Leu,ENST00000216605,;MTHFD1,missense_variant,p.Ile47Leu,ENST00000557370,;MTHFD1,missense_variant,p.Ile918Leu,ENST00000545908,;ZBTB25,intron_variant,,ENST00000555220,;ZBTB25,intron_variant,,ENST00000555424,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000556284,;MTHFD1,downstream_gene_variant,,ENST00000553405,;MTHFD1,upstream_gene_variant,,ENST00000554353,;	2662	92	98	SUCCESS
SPTB	6710	.	GRCh37	14	65241903	65241903	+	synonymous_variant	Silent	SNP	G	G	A	rs138279396	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	60	0	ENST00000389721.5:c.4782C>T	p.Asp1594=	p.D1594=	ENST00000389721	NM_000347.5	1594	gaC/gaT	0	A:0	A:0	.	A:0.0014	.	A	D	protein_coding	YES	CCDS32099.1	4782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGTCTGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	A:0	A:0.0006	ENSP00000374372	A:0.001	22/35	.	.	.	.	.	.	.	.	rs138279396	22/35	common_in_exac	ENST00000389722	Transcript	.	A:0.0004	ENSG00000070182	11274	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,synonymous_variant,p.%3D,ENST00000389721,;SPTB,synonymous_variant,p.%3D,ENST00000556626,;SPTB,synonymous_variant,p.%3D,ENST00000553938,;SPTB,synonymous_variant,p.%3D,ENST00000389722,;SPTB,synonymous_variant,p.%3D,ENST00000542895,;SPTB,synonymous_variant,p.%3D,ENST00000389720,;	4836	61	72	SUCCESS
PLEK2	26499	.	GRCh37	14	67864501	67864501	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753723077	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	108	0	ENST00000216446.4:c.85C>T	p.Arg29Trp	p.R29W	ENST00000216446	NM_016445.1	29	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9782.1	85	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGAAGGA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12092:SF2,hmmpanther:PTHR12092,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000216446	.	2/9	.	.	.	.	.	.	.	.	rs753723077	2/9	PASS	ENST00000216446	Transcript	.	.	ENSG00000100558	19238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.606)	.	tolerated(0.1)	.	PLEK2_HUMAN	PLEK2	HGNC	.	.	UPI0000035D89	SNV	PLEK2,missense_variant,p.Arg29Trp,ENST00000216446,;PLEK2,upstream_gene_variant,,ENST00000554395,;PLEK2,non_coding_transcript_exon_variant,,ENST00000557388,;PLEK2,missense_variant,p.Arg29Trp,ENST00000553387,;PLEK2,missense_variant,p.Arg13Trp,ENST00000555803,;	226	108	102	SUCCESS
RDH12	145226	.	GRCh37	14	68189266	68189266	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	75	0	ENST00000267502.3:c.-94G>A		p.*32*	ENST00000267502				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9787.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGCCAAG	NONE	.	.	.	.	.	ENSP00000449079	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000551171	Transcript	.	.	ENSG00000139988	19977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDH12_HUMAN	RDH12	HGNC	.	.	UPI0000071827	SNV	RDH12,5_prime_UTR_variant,,ENST00000539142,;RDH12,5_prime_UTR_variant,,ENST00000551171,;RDH12,5_prime_UTR_variant,,ENST00000267502,;RDH12,downstream_gene_variant,,ENST00000547463,;ZFYVE26,downstream_gene_variant,,ENST00000394455,;RDH12,upstream_gene_variant,,ENST00000552873,;	231	75	66	SUCCESS
MAP3K9	4293	.	GRCh37	14	71199865	71199865	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145221753	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	84	0	ENST00000554752.2:c.2221C>T	p.Arg741Trp	p.R741W	ENST00000554752	NM_001284230.1	741	Cgg/Tgg	0	A:0	A:0.0015	.	A:0	.	A	R/W	protein_coding	YES	CCDS32112.1	2263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCTTGA	NONE	byFrequency|byCluster|by1000G	.	PIRSF_domain:PIRSF000556	A:0	A:0.0001	ENSP00000451263	A:0	12/13	.	.	.	.	.	.	.	.	rs145221753	12/13	PASS	ENST00000555993	Transcript	.	A:0.0004	ENSG00000006432	6861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0.01)	.	M3K9_HUMAN	MAP3K9	HGNC	Q8NEB1_HUMAN,B4DSG3_HUMAN,B4DGF4_HUMAN,B3KRI5_HUMAN	.	UPI00001D7B5C	SNV	MAP3K9,missense_variant,p.Arg474Trp,ENST00000553414,;MAP3K9,missense_variant,p.Arg469Trp,ENST00000554146,;MAP3K9,missense_variant,p.Arg718Trp,ENST00000381250,;MAP3K9,missense_variant,p.Arg755Trp,ENST00000555993,;MAP3K9,missense_variant,p.Arg741Trp,ENST00000554752,;	2626	84	78	SUCCESS
ACOT4	122970	.	GRCh37	14	74062092	74062092	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1029860077	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	31	129	0	ENST00000326303.4:c.1000T>C	p.Tyr334His	p.Y334H	ENST00000326303	NM_152331.3	334	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS9817.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGTATGCC	NONE	.	.	hmmpanther:PTHR10824:SF6,hmmpanther:PTHR10824,Gene3D:3.40.50.1820,Pfam_domain:PF08840,PIRSF_domain:PIRSF016521,Superfamily_domains:SSF53474	.	.	ENSP00000323071	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000326303	Transcript	.	.	ENSG00000177465	19748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.04)	.	ACOT4_HUMAN	ACOT4	HGNC	.	.	UPI000004BF01	SNV	ACOT4,missense_variant,p.Tyr334His,ENST00000326303,;	1254	129	116	SUCCESS
SYNDIG1L	646658	.	GRCh37	14	74876101	74876101	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1300048334	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	49	0	ENST00000331628.3:c.347C>T	p.Thr116Ile	p.T116I	ENST00000331628	NM_001105579.1	116	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41970.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGTGACA	NONE	.	.	hmmpanther:PTHR14768:SF4,hmmpanther:PTHR14768	.	.	ENSP00000331474	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000331628	Transcript	.	.	ENSG00000183379	32388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	tolerated(0.05)	.	SYN1L_HUMAN	SYNDIG1L	HGNC	G3V402_HUMAN	.	UPI0000D6242F	SNV	SYNDIG1L,missense_variant,p.Thr116Ile,ENST00000554823,;SYNDIG1L,missense_variant,p.Thr116Ile,ENST00000331628,;SYNDIG1L,downstream_gene_variant,,ENST00000554953,;	595	49	55	SUCCESS
AREL1	9870	.	GRCh37	14	75130470	75130470	+	synonymous_variant	Silent	SNP	G	G	A	rs1595333448	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	37	89	0	ENST00000356357.4:c.2425C>T	p.Leu809=	p.L809=	ENST00000356357	NM_001039479.1	809	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS41971.1	2425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCATCC	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF284,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000348714	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000356357	Transcript	.	.	ENSG00000119682	20363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AREL1_HUMAN	AREL1	HGNC	H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN	.	UPI0000073D44	SNV	AREL1,synonymous_variant,p.%3D,ENST00000356357,;AREL1,downstream_gene_variant,,ENST00000556202,;AREL1,intron_variant,,ENST00000557401,;AREL1,synonymous_variant,p.%3D,ENST00000554070,;AREL1,3_prime_UTR_variant,,ENST00000555330,;AREL1,non_coding_transcript_exon_variant,,ENST00000557688,;	2941	89	79	SUCCESS
EIF2B2	8892	.	GRCh37	14	75471454	75471454	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	54	0	ENST00000266126.5:c.448A>G	p.Asn150Asp	p.N150D	ENST00000266126	NM_014239.3	150	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS9836.1	448	RADIA|MUTECT|MUSE	.	TGGAGAACATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF9,Pfam_domain:PF01008,Superfamily_domains:SSF100950	.	.	ENSP00000266126	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000266126	Transcript	.	.	ENSG00000119718	3258	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.345)	.	tolerated(0.11)	.	EI2BB_HUMAN	EIF2B2	HGNC	Q53XC2_HUMAN	.	UPI0000000CB9	SNV	EIF2B2,missense_variant,p.Asn150Asp,ENST00000266126,;EIF2B2,upstream_gene_variant,,ENST00000554748,;RP11-950C14.3,non_coding_transcript_exon_variant,,ENST00000554430,;EIF2B2,missense_variant,p.Asn141Asp,ENST00000553401,;EIF2B2,missense_variant,p.Asn150Asp,ENST00000556028,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000553539,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000555522,;EIF2B2,upstream_gene_variant,,ENST00000556668,;	528	54	37	SUCCESS
CIPC	85457	.	GRCh37	14	77580248	77580248	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201665496	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	70	0	ENST00000361786.2:c.787G>A	p.Ala263Thr	p.A263T	ENST00000361786	NM_033426.2	263	Gcc/Acc	0	.	C:0.0008	.	C:0	.	A	A/T	protein_coding	YES	CCDS9855.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCCAGT	NONE	byCluster|by1000G	.	.	C:0	.	ENSP00000355319	C:0	4/4	.	.	.	.	.	.	.	.	rs201665496,COSM958103	4/4	PASS	ENST00000361786	Transcript	.	C:0.0002	ENSG00000198894	20365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.955)	C:0	tolerated(0.49)	0,1	K1737_HUMAN	CIPC	HGNC	G3V5Y7_HUMAN,G3V5J4_HUMAN,G3V405_HUMAN,G3V3Y7_HUMAN	.	UPI0000073FD0	SNV	CIPC,missense_variant,p.Ala263Thr,ENST00000361786,;CIPC,downstream_gene_variant,,ENST00000554658,;CIPC,downstream_gene_variant,,ENST00000555611,;CIPC,downstream_gene_variant,,ENST00000557115,;TMEM63C,upstream_gene_variant,,ENST00000557408,;CIPC,downstream_gene_variant,,ENST00000555437,;CIPC,downstream_gene_variant,,ENST00000554447,;CIPC,downstream_gene_variant,,ENST00000555200,;RP11-463C8.4,intron_variant,,ENST00000557752,;	1104	70	74	SUCCESS
FLRT2	23768	.	GRCh37	14	86088965	86088965	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	66	0	ENST00000330753.4:c.1107C>A	p.Leu369=	p.L369=	ENST00000330753	NM_013231.4	369	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9877.1	1107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCTTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,synonymous_variant,p.%3D,ENST00000330753,;FLRT2,synonymous_variant,p.%3D,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	1874	66	67	SUCCESS
ZC3H14	79882	.	GRCh37	14	89039079	89039079	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	50	169	0	ENST00000251038.5:c.594del	p.Lys198AsnfsTer4	p.K198Nfs*4	ENST00000251038	NM_024824.4	197	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS32133.1	589	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCAGAAAAAA	NONE	.	.	hmmpanther:PTHR14738,hmmpanther:PTHR14738:SF29	.	.	ENSP00000251038	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000251038	Transcript	1	.	ENSG00000100722	20509	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZC3HE_HUMAN	ZC3H14	HGNC	G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN	.	UPI00001BDB9B	deletion	ZC3H14,frameshift_variant,p.Lys164AsnfsTer4,ENST00000336693,;ZC3H14,frameshift_variant,p.Lys198AsnfsTer4,ENST00000555755,;ZC3H14,frameshift_variant,p.Lys185AsnfsTer4,ENST00000556158,;ZC3H14,frameshift_variant,p.Lys198AsnfsTer4,ENST00000393514,;ZC3H14,frameshift_variant,p.Lys164AsnfsTer4,ENST00000555799,;ZC3H14,frameshift_variant,p.Lys198AsnfsTer4,ENST00000302216,;ZC3H14,frameshift_variant,p.Lys198AsnfsTer4,ENST00000251038,;ZC3H14,frameshift_variant,p.Lys164AsnfsTer4,ENST00000359301,;ZC3H14,frameshift_variant,p.Lys198AsnfsTer4,ENST00000556945,;ZC3H14,frameshift_variant,p.Lys43AsnfsTer4,ENST00000557607,;ZC3H14,frameshift_variant,p.Lys114AsnfsTer4,ENST00000556000,;ZC3H14,downstream_gene_variant,,ENST00000555120,;ZC3H14,downstream_gene_variant,,ENST00000554602,;ZC3H14,downstream_gene_variant,,ENST00000557693,;ZC3H14,upstream_gene_variant,,ENST00000557047,;ZC3H14,upstream_gene_variant,,ENST00000557605,;ZC3H14,downstream_gene_variant,,ENST00000553495,;ZC3H14,upstream_gene_variant,,ENST00000556110,;	814	169	200	SUCCESS
TTC7B	145567	.	GRCh37	14	91155976	91155976	+	synonymous_variant	Silent	SNP	C	C	T	rs774730964	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	57	106	0	ENST00000328459.6:c.858G>A	p.Pro286=	p.P286=	ENST00000328459	NM_001010854.1	286	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32140.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACGGTGG	NONE	byFrequency	.	hmmpanther:PTHR23083:SF365,hmmpanther:PTHR23083	.	.	ENSP00000336127	.	7/20	.	.	.	.	.	.	.	.	rs774730964	7/20	PASS	ENST00000328459	Transcript	.	.	ENSG00000165914	19858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC7B_HUMAN	TTC7B	HGNC	G3V3E4_HUMAN,B3KX34_HUMAN	.	UPI00001FD9F0	SNV	TTC7B,synonymous_variant,p.%3D,ENST00000328459,;TTC7B,synonymous_variant,p.%3D,ENST00000357056,;TTC7B,downstream_gene_variant,,ENST00000557766,;TTC7B,synonymous_variant,p.%3D,ENST00000555005,;	980	106	120	SUCCESS
CPSF2	53981	.	GRCh37	14	92621569	92621569	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	64	183	0	ENST00000298875.4:c.1344T>C	p.Ser448=	p.S448=	ENST00000298875	NM_017437.2	448	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9902.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTCGTAA	NONE	.	.	hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5	.	.	ENSP00000298875	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000298875	Transcript	.	.	ENSG00000165934	2325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSF2_HUMAN	CPSF2	HGNC	G3V3T7_HUMAN,B3KN45_HUMAN	.	UPI0000185F22	SNV	CPSF2,synonymous_variant,p.%3D,ENST00000555244,;CPSF2,synonymous_variant,p.%3D,ENST00000298875,;CPSF2,downstream_gene_variant,,ENST00000556622,;	1629	184	164	SUCCESS
LGMN	5641	.	GRCh37	14	93180780	93180780	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762702370	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	97	1	ENST00000334869.4:c.421G>A	p.Val141Met	p.V141M	ENST00000334869	NM_005606.6	141	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS9904.1	421	RADIA|MUTECT|MUSE|VARSCANS	.	GAACACGTGAT	NONE	byFrequency	.	Prints_domain:PR00776,PIRSF_domain:PIRSF019663,PIRSF_domain:PIRSF500139,Pfam_domain:PF01650,hmmpanther:PTHR12000,hmmpanther:PTHR12000:SF3	.	.	ENSP00000376911	.	7/15	.	.	.	.	.	.	.	.	rs762702370	7/15	PASS	ENST00000393218	Transcript	.	.	ENSG00000100600	9472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	LGMN_HUMAN	LGMN	HGNC	Q96CY7_HUMAN,Q53XC6_HUMAN,G3V5B2_HUMAN,G3V4P5_HUMAN,G3V4H2_HUMAN	.	UPI000000CC65	SNV	LGMN,missense_variant,p.Val132Met,ENST00000553802,;LGMN,missense_variant,p.Val141Met,ENST00000393218,;LGMN,missense_variant,p.Val141Met,ENST00000557434,;LGMN,missense_variant,p.Val141Met,ENST00000555699,;LGMN,missense_variant,p.Val141Met,ENST00000334869,;LGMN,intron_variant,,ENST00000555169,;LGMN,downstream_gene_variant,,ENST00000554080,;LGMN,downstream_gene_variant,,ENST00000554919,;LGMN,downstream_gene_variant,,ENST00000553371,;LGMN,downstream_gene_variant,,ENST00000554397,;LGMN,missense_variant,p.Arg112His,ENST00000557609,;LGMN,missense_variant,p.Val141Met,ENST00000556097,;LGMN,3_prime_UTR_variant,,ENST00000554189,;LGMN,upstream_gene_variant,,ENST00000557725,;LGMN,downstream_gene_variant,,ENST00000557694,;	759	98	102	SUCCESS
CHGA	1113	.	GRCh37	14	93397934	93397934	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs71430778	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	64	164	0	ENST00000216492.5:c.695A>C	p.Glu232Ala	p.E232A	ENST00000216492	NM_001275.3	232	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS9906.1	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01271,hmmpanther:PTHR10583	.	.	ENSP00000216492	.	6/8	.	.	.	.	.	.	.	.	rs71430778	6/8	PASS	ENST00000216492	Transcript	.	.	ENSG00000100604	1929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.08)	.	CMGA_HUMAN	CHGA	HGNC	.	.	UPI000013C6F3	SNV	CHGA,missense_variant,p.Glu232Ala,ENST00000216492,;CHGA,intron_variant,,ENST00000334654,;CHGA,non_coding_transcript_exon_variant,,ENST00000553866,;CHGA,3_prime_UTR_variant,,ENST00000556076,;CHGA,upstream_gene_variant,,ENST00000556876,;CHGA,downstream_gene_variant,,ENST00000556098,;	975	164	158	SUCCESS
CLMN	79789	.	GRCh37	14	95669982	95669982	+	synonymous_variant	Silent	SNP	G	G	A	rs147284495	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	50	167	1	ENST00000298912.4:c.1704C>T	p.Ser568=	p.S568=	ENST00000298912	NM_024734.3	568	agC/agT	0	A:0	.	.	.	.	A	S	protein_coding	YES	CCDS9933.1	1704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGCTGTT	NONE	byCluster	.	hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915	.	A:0.0001	ENSP00000298912	.	9/13	.	.	.	.	.	.	.	.	rs147284495	9/13	PASS	ENST00000298912	Transcript	.	.	ENSG00000165959	19972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLMN_HUMAN	CLMN	HGNC	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN	.	UPI000006DB99	SNV	CLMN,synonymous_variant,p.%3D,ENST00000298912,;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;	1818	168	134	SUCCESS
BDKRB1	623	.	GRCh37	14	96730967	96730967	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	41	102	0	ENST00000216629.6:c.948C>T	p.Gly316=	p.G316=	ENST00000216629	NM_000710.3	316	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9943.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCCGGCT	NONE	.	.	Prints_domain:PR00425,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF4	.	.	ENSP00000216629	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000216629	Transcript	.	.	ENSG00000100739	1029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BKRB1_HUMAN	BDKRB1	HGNC	.	.	UPI0000000348	SNV	BDKRB1,synonymous_variant,p.%3D,ENST00000216629,;BDKRB1,synonymous_variant,p.%3D,ENST00000553356,;RP11-404P21.8,downstream_gene_variant,,ENST00000553811,;RP11-404P21.3,intron_variant,,ENST00000553638,;BDKRB1,upstream_gene_variant,,ENST00000557122,;RP11-404P21.8,downstream_gene_variant,,ENST00000555847,;	1554	102	102	SUCCESS
ATG2B	55102	.	GRCh37	14	96781801	96781801	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	327	25	343	0	ENST00000359933.4:c.3481G>A	p.Asp1161Asn	p.D1161N	ENST00000359933	NM_018036.5	1161	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9944.2	3481	MUTECT|MUSE	.	TCCATCTGAAG	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	22/42	.	.	.	.	.	.	.	.	.	22/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.932)	.	tolerated(0.44)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Asp1161Asn,ENST00000359933,;ATG2B,downstream_gene_variant,,ENST00000488421,;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;	4375	343	352	SUCCESS
C14orf177	283598	.	GRCh37	14	99183450	99183450	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	86	0	ENST00000325812.2:c.217T>C	p.Phe73Leu	p.F73L	ENST00000325812	NM_182560.2	73	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS9948.1	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTTTCTGT	NONE	.	.	.	.	.	ENSP00000321360	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000325812	Transcript	.	.	ENSG00000176605	26375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0)	.	CN177_HUMAN	C14orf177	HGNC	F5GYC5_HUMAN	.	UPI0000141766	SNV	C14orf177,missense_variant,p.Phe73Leu,ENST00000325812,;C14orf177,missense_variant,p.Phe73Leu,ENST00000541516,;C14orf177,downstream_gene_variant,,ENST00000546029,;	636	86	75	SUCCESS
SETD3	84193	.	GRCh37	14	99929899	99929899	+	synonymous_variant	Silent	SNP	C	C	T	rs146095518	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	42	0	ENST00000331768.5:c.120G>A	p.Ala40=	p.A40=	ENST00000331768	NM_032233.2	40	gcG/gcA	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS9951.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCGCCGG	NONE	byCluster	.	PROSITE_profiles:PS51565,hmmpanther:PTHR13271,hmmpanther:PTHR13271:SF8	.	T:0.0001	ENSP00000327436	.	3/13	.	.	.	.	.	.	.	.	rs146095518	3/13	PASS	ENST00000331768	Transcript	.	.	ENSG00000183576	20493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD3_HUMAN	SETD3	HGNC	.	.	UPI000000CC6D	SNV	SETD3,synonymous_variant,p.%3D,ENST00000331768,;SETD3,synonymous_variant,p.%3D,ENST00000329331,;SETD3,synonymous_variant,p.%3D,ENST00000436070,;SETD3,non_coding_transcript_exon_variant,,ENST00000453938,;SETD3,synonymous_variant,p.%3D,ENST00000357563,;SETD3,synonymous_variant,p.%3D,ENST00000453764,;SETD3,synonymous_variant,p.%3D,ENST00000446066,;	280	42	35	SUCCESS
ASB7	140460	.	GRCh37	15	101152549	101152549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749086577	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	72	138	0	ENST00000332783.7:c.128G>A	p.Arg43Gln	p.R43Q	ENST00000332783	NM_198243.2	43	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10387.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGAGATG	NONE	byFrequency	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24123:SF13,hmmpanther:PTHR24123,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000328327	.	4/6	.	.	.	.	.	.	.	.	rs749086577	4/6	PASS	ENST00000332783	Transcript	.	.	ENSG00000183475	17182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.32)	.	ASB7_HUMAN	ASB7	HGNC	.	.	UPI00001B3F4D	SNV	ASB7,missense_variant,p.Arg43Gln,ENST00000332783,;ASB7,missense_variant,p.Arg43Gln,ENST00000343276,;ASB7,missense_variant,p.Arg43Gln,ENST00000558747,;ASB7,non_coding_transcript_exon_variant,,ENST00000561192,;	913	138	166	SUCCESS
PCSK6	5046	.	GRCh37	15	101929688	101929688	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1596274800	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	55	133	0	ENST00000348070.1:c.1288G>A	p.Ala430Thr	p.A430T	ENST00000348070	NM_138320.1	430	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCGATGA	NONE	.	.	hmmpanther:PTHR10795:SF345,hmmpanther:PTHR10795,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743,Prints_domain:PR00723	.	.	ENSP00000305056	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000348070	Transcript	.	.	ENSG00000140479	8569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PCSK6_HUMAN	PCSK6	HGNC	A2RQD9_HUMAN	.	UPI00001AE92B	SNV	PCSK6,missense_variant,p.Ala430Thr,ENST00000358417,;PCSK6,missense_variant,p.Ala430Thr,ENST00000398181,;PCSK6,missense_variant,p.Ala430Thr,ENST00000344273,;PCSK6,missense_variant,p.Ala305Thr,ENST00000559417,;PCSK6,missense_variant,p.Ala265Thr,ENST00000331826,;PCSK6,missense_variant,p.Ala333Thr,ENST00000398185,;PCSK6,missense_variant,p.Ala430Thr,ENST00000348070,;PCSK6,non_coding_transcript_exon_variant,,ENST00000560921,;PCSK6,non_coding_transcript_exon_variant,,ENST00000561109,;PCSK6,non_coding_transcript_exon_variant,,ENST00000558716,;PCSK6,non_coding_transcript_exon_variant,,ENST00000560271,;PCSK6,non_coding_transcript_exon_variant,,ENST00000561177,;PCSK6,non_coding_transcript_exon_variant,,ENST00000559678,;PCSK6,non_coding_transcript_exon_variant,,ENST00000561444,;PCSK6,intron_variant,,ENST00000557794,;	1288	133	132	SUCCESS
HERC2P3	283755	.	GRCh37	15	20644303	20644303	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	42	216	0	ENST00000428453.1:n.3261G>T		p.*1087*	ENST00000428453				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCTCCGC	NONE	.	.	.	.	.	.	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000436934,;HERC2P3,downstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,downstream_gene_variant,,ENST00000545640,;	3261	216	200	SUCCESS
CYFIP1	23191	.	GRCh37	15	23003033	23003033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	115	0	ENST00000313077.7:c.3755G>A	p.Ser1252Asn	p.S1252N	ENST00000313077	NM_014608.2	1252	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS10009.1	3755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGCAGCT	NONE	.	.	hmmpanther:PTHR12195:SF2,hmmpanther:PTHR12195,PIRSF_domain:PIRSF008153	.	.	ENSP00000324549	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000313077	Transcript	.	.	ENSG00000068793	13759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.31)	.	CYFP1_HUMAN	CYFIP1	HGNC	H0YLJ5_HUMAN,H0YL39_HUMAN	.	UPI0000163A89	SNV	CYFIP1,missense_variant,p.Ser1252Asn,ENST00000560848,;CYFIP1,missense_variant,p.Ser821Asn,ENST00000435939,;CYFIP1,missense_variant,p.Ser1252Asn,ENST00000313077,;NIPA2,downstream_gene_variant,,ENST00000398013,;NIPA2,downstream_gene_variant,,ENST00000539711,;NIPA2,downstream_gene_variant,,ENST00000398014,;NIPA2,downstream_gene_variant,,ENST00000337451,;CYFIP1,downstream_gene_variant,,ENST00000561263,;NIPA2,downstream_gene_variant,,ENST00000359727,;CYFIP1,non_coding_transcript_exon_variant,,ENST00000561020,;CYFIP1,downstream_gene_variant,,ENST00000557890,;	3880	115	90	SUCCESS
NPAP1	23742	.	GRCh37	15	24921255	24921255	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	100	0	ENST00000329468.2:c.241C>T	p.Pro81Ser	p.P81S	ENST00000329468	NM_018958.2	81	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10015.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCCTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	tolerated(0.37)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Pro81Ser,ENST00000329468,;	715	100	92	SUCCESS
APBA2	321	.	GRCh37	15	29406202	29406202	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	87	0	ENST00000558259.1:c.2161T>A	p.Ser721Thr	p.S721T	ENST00000558259	NM_005503.3	721	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS10022.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTCCAAC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000453293	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.19)	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,missense_variant,p.Ser721Thr,ENST00000558259,;APBA2,missense_variant,p.Ser721Thr,ENST00000561069,;APBA2,missense_variant,p.Ser721Thr,ENST00000558402,;APBA2,missense_variant,p.Ser709Thr,ENST00000411764,;APBA2,missense_variant,p.Ser709Thr,ENST00000558330,;	2760	87	82	SUCCESS
FAM189A1	23359	.	GRCh37	15	29429272	29429273	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	46	0	ENST00000261275.4:c.755dup	p.Glu253ArgfsTer9	p.E253Rfs*9	ENST00000261275	NM_015307.1	252	cca/ccCa	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS45198.1	755-756	VARSCANI*|PINDEL	.	TACTCTGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6	.	.	ENSP00000261275	.	6/11	.	.	.	.	.	.	.	.	COSM1372292	6/11	PASS	ENST00000261275	Transcript	.	.	ENSG00000104059	29075	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	F1891_HUMAN	FAM189A1	HGNC	H0YKM1_HUMAN	.	UPI0001641C10	insertion	FAM189A1,frameshift_variant,p.Glu253ArgfsTer9,ENST00000261275,;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	755-756	46	53	SUCCESS
ARHGAP11A	9824	.	GRCh37	15	32908462	32908462	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	67	164	0	ENST00000361627.3:c.50C>T	p.Ala17Val	p.A17V	ENST00000361627	NM_014783.3	17	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10028.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGCCTTCT	NONE	.	.	hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670	.	.	ENSP00000355090	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000361627	Transcript	.	.	ENSG00000198826	15783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.26)	.	RHGBA_HUMAN	ARHGAP11A	HGNC	B4DZN9_HUMAN	.	UPI0000071553	SNV	ARHGAP11A,missense_variant,p.Ala17Val,ENST00000567348,;ARHGAP11A,missense_variant,p.Ala17Val,ENST00000361627,;ARHGAP11A,missense_variant,p.Ala17Val,ENST00000563864,;ARHGAP11A,intron_variant,,ENST00000565905,;ARHGAP11A,intron_variant,,ENST00000543522,;AC123768.4,upstream_gene_variant,,ENST00000576873,;RP11-1000B6.5,downstream_gene_variant,,ENST00000500941,;ARHGAP11A,downstream_gene_variant,,ENST00000563330,;	772	164	178	SUCCESS
RYR3	6263	.	GRCh37	15	33954476	33954476	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1238658419	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	74	0	ENST00000389232.4:c.4745G>A	p.Ser1582Asn	p.S1582N	ENST00000389232	NM_001036.3	1582	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS45210.1	4745	MUTECT|MUSE	.	GTGCAGCCACG	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	35/104	.	.	.	.	.	.	.	.	.	35/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.947)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Ser1582Asn,ENST00000389232,;RYR3,missense_variant,p.Ser1582Asn,ENST00000415757,;	4815	74	50	SUCCESS
GJD2	57369	.	GRCh37	15	35044813	35044813	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs113904860	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	156	0	ENST00000290374.4:c.832C>T	p.Arg278Cys	p.R278C	ENST00000290374	NM_020660.2	278	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS10040.1	832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCGCCATC	CODON|p.R278H|c.833G>A|3	.	.	hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984,Gene3D:2zw3A00	.	.	ENSP00000290374	.	2/2	.	.	.	.	.	.	.	.	rs113904860,COSM1208235	2/2	PASS	ENST00000290374	Transcript	.	.	ENSG00000159248	19154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	1,1	CXD2_HUMAN	GJD2	HGNC	.	.	UPI00001287E3	SNV	GJD2,missense_variant,p.Arg278Cys,ENST00000290374,;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	1309	156	141	SUCCESS
THBS1	7057	.	GRCh37	15	39874935	39874935	+	synonymous_variant	Silent	SNP	C	C	T	rs774558560	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	31	0	ENST00000260356.5:c.609C>T	p.Gly203=	p.G203=	ENST00000260356	NM_003246.2	203	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32194.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCGTCAA	NONE	.	.	hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	3/22	.	.	.	.	.	.	.	.	rs774558560	3/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,synonymous_variant,p.%3D,ENST00000260356,;THBS1,downstream_gene_variant,,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000466755,;THBS1,upstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000478845,;	774	31	31	SUCCESS
THBS1	7057	.	GRCh37	15	39881519	39881519	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	86	0	ENST00000260356.5:c.1890C>T	p.Phe630=	p.F630=	ENST00000260356	NM_003246.2	630	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS32194.1	1890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCGGCCA	NONE	.	.	hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,SMART_domains:SM00179,SMART_domains:SM00181	.	.	ENSP00000260356	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,synonymous_variant,p.%3D,ENST00000260356,;CTD-2033D15.1,downstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000490247,;THBS1,upstream_gene_variant,,ENST00000560894,;THBS1,upstream_gene_variant,,ENST00000484734,;THBS1,downstream_gene_variant,,ENST00000466755,;THBS1,downstream_gene_variant,,ENST00000478845,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000559746,;	2055	86	83	SUCCESS
THBS1	7057	.	GRCh37	15	39885371	39885371	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781417873	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	96	0	ENST00000260356.5:c.2938C>T	p.Arg980Cys	p.R980C	ENST00000260356	NM_003246.2	980	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS32194.1	2938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACGCCAT	NONE	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	18/22	.	.	.	.	.	.	.	.	rs781417873	18/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,missense_variant,p.Arg980Cys,ENST00000260356,;CTD-2033D15.1,downstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000484734,;THBS1,downstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000466755,;THBS1,downstream_gene_variant,,ENST00000478845,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,downstream_gene_variant,,ENST00000490247,;THBS1,upstream_gene_variant,,ENST00000559746,;	3103	96	83	SUCCESS
DISP2	85455	.	GRCh37	15	40660890	40660890	+	synonymous_variant	Silent	SNP	C	C	T	rs754740398	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	82	0	ENST00000267889.3:c.2577C>T	p.Cys859=	p.C859=	ENST00000267889	NM_033510.1	859	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS10056.1	2577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCGGCCA	NONE	.	.	hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	rs754740398	8/8	PASS	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,synonymous_variant,p.%3D,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	2664	82	71	SUCCESS
LTK	4058	.	GRCh37	15	41804450	41804450	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1310595333	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	83	201	0	ENST00000263800.6:c.373G>A	p.Gly125Arg	p.G125R	ENST00000263800	NM_002344.5	125	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10077.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCGTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416,Pfam_domain:PF12810	.	.	ENSP00000263800	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000263800	Transcript	.	.	ENSG00000062524	6721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,missense_variant,p.Gly125Arg,ENST00000263800,;LTK,missense_variant,p.Gly125Arg,ENST00000355166,;LTK,missense_variant,p.Gly125Arg,ENST00000453182,;LTK,intron_variant,,ENST00000561619,;RPAP1,downstream_gene_variant,,ENST00000561603,;RPAP1,downstream_gene_variant,,ENST00000304330,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,upstream_gene_variant,,ENST00000569283,;RPAP1,downstream_gene_variant,,ENST00000562303,;RPAP1,downstream_gene_variant,,ENST00000565167,;	470	201	217	SUCCESS
TGM5	9333	.	GRCh37	15	43545733	43545733	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775094098	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	46	0	ENST00000220420.5:c.655G>A	p.Val219Ile	p.V219I	ENST00000220420	NM_201631.3	219	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS32212.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGACGGGGC	NONE	byFrequency	.	Superfamily_domains:SSF54001,PIRSF_domain:PIRSF000459,Gene3D:1ex0A02,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590	.	.	ENSP00000220420	.	5/13	.	.	.	.	.	.	.	.	rs775094098	5/13	PASS	ENST00000220420	Transcript	1	.	ENSG00000104055	11781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.28)	.	TGM5_HUMAN	TGM5	HGNC	.	.	UPI0000136CCF	SNV	TGM5,missense_variant,p.Val219Ile,ENST00000220420,;TGM5,missense_variant,p.Val137Ile,ENST00000349114,;	663	46	42	SUCCESS
TUBGCP4	27229	.	GRCh37	15	43668752	43668752	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200951264	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	129	0	ENST00000260383.7:c.259C>T	p.Arg87Trp	p.R87W	ENST00000260383	NM_001286414.1	87	Cgg/Tgg	0	.	A:0	.	A:0	.	T	R/W	protein_coding	YES	CCDS42030.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCGGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR19302,Pfam_domain:PF04130	A:0	.	ENSP00000456648	A:0	3/18	.	.	.	.	.	.	.	.	rs200951264	3/18	PASS	ENST00000564079	Transcript	1	A:0.0002	ENSG00000137822	16691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	A:0.001	deleterious(0)	.	GCP4_HUMAN	TUBGCP4	HGNC	.	.	UPI0000169EEB	SNV	TUBGCP4,missense_variant,p.Arg87Trp,ENST00000260383,;TUBGCP4,missense_variant,p.Arg87Trp,ENST00000564079,;TUBGCP4,5_prime_UTR_variant,,ENST00000399460,;TUBGCP4,non_coding_transcript_exon_variant,,ENST00000570081,;TUBGCP4,missense_variant,p.Arg6Trp,ENST00000561691,;TUBGCP4,3_prime_UTR_variant,,ENST00000563517,;TUBGCP4,upstream_gene_variant,,ENST00000564511,;TUBGCP4,upstream_gene_variant,,ENST00000563412,;	499	129	107	SUCCESS
MAP1A	4130	.	GRCh37	15	43820753	43820753	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	66	0	ENST00000300231.5:c.7082G>A	p.Gly2361Asp	p.G2361D	ENST00000300231		2361	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS42031.1	7082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGGCCCAA	NONE	.	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,missense_variant,p.Gly2361Asp,ENST00000300231,;MAP1A,missense_variant,p.Gly2599Asp,ENST00000382031,;MAP1A,missense_variant,p.Gly2361Asp,ENST00000399453,;PPIP5K1,downstream_gene_variant,,ENST00000396923,;PPIP5K1,downstream_gene_variant,,ENST00000360301,;PPIP5K1,downstream_gene_variant,,ENST00000381885,;PPIP5K1,downstream_gene_variant,,ENST00000381879,;PPIP5K1,downstream_gene_variant,,ENST00000420765,;PPIP5K1,downstream_gene_variant,,ENST00000360135,;PPIP5K1,downstream_gene_variant,,ENST00000334933,;	7532	66	64	SUCCESS
DUOX2	50506	.	GRCh37	15	45387173	45387173	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	95	0	ENST00000603300.1:c.4356C>T	p.Thr1452=	p.T1452=	ENST00000603300	NM_014080.4	1452	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10117.1	4356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGTGAC	NONE	.	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	.	.	ENSP00000475084	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,synonymous_variant,p.%3D,ENST00000389039,;DUOX2,synonymous_variant,p.%3D,ENST00000603300,;DUOX2,downstream_gene_variant,,ENST00000558383,;DUOX2,downstream_gene_variant,,ENST00000560797,;	4559	95	79	SUCCESS
DUOXA1	90527	.	GRCh37	15	45413420	45413420	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	136	0	ENST00000560572.1:c.206-1G>A		p.X69_splice	ENST00000560572	NM_001276266.1	69		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10119.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCTGTGG	NONE	.	.	.	.	.	ENSP00000267803	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267803	Transcript	.	.	ENSG00000140254	26507	.	.	HIGH	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOXA1_HUMAN	DUOXA1	HGNC	H0YMZ8_HUMAN,H0YLQ4_HUMAN,A8K9Q6_HUMAN	.	UPI000006D4D4	SNV	DUOXA1,splice_acceptor_variant,,ENST00000267803,;DUOXA1,splice_acceptor_variant,,ENST00000559014,;DUOXA1,splice_acceptor_variant,,ENST00000558377,;DUOXA1,splice_acceptor_variant,,ENST00000560572,;DUOXA1,splice_acceptor_variant,,ENST00000559988,;DUOXA1,intron_variant,,ENST00000558326,;DUOXA1,intron_variant,,ENST00000558422,;DUOXA1,intron_variant,,ENST00000558996,;DUOXA1,intron_variant,,ENST00000559226,;DUOXA1,intron_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558851,;DUOXA2,downstream_gene_variant,,ENST00000323030,;DUOXA1,downstream_gene_variant,,ENST00000559644,;DUOXA1,splice_acceptor_variant,,ENST00000559013,;DUOXA2,downstream_gene_variant,,ENST00000350243,;DUOXA2,downstream_gene_variant,,ENST00000491993,;	.	136	122	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45694775	45694775	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	28	60	0	ENST00000305560.6:c.148T>C	p.Ser50Pro	p.S50P	ENST00000305560	NM_024063.2	50	Tcg/Ccg	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS10123.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTCGCTA	NONE	.	.	hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077	.	.	ENSP00000305494	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	tolerated(0.06)	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,missense_variant,p.Ser50Pro,ENST00000305560,;SPATA5L1,missense_variant,p.Ser50Pro,ENST00000559860,;GATM,upstream_gene_variant,,ENST00000561148,;GATM,upstream_gene_variant,,ENST00000458245,;SPATA5L1,missense_variant,p.Ser50Pro,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000525552,;	247	61	52	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45695622	45695622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	55	112	0	ENST00000305560.6:c.995C>A	p.Ala332Asp	p.A332D	ENST00000305560	NM_024063.2	332	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS10123.1	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGCCAGTG	NONE	.	.	hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000305494	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	deleterious(0.01)	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,missense_variant,p.Ala332Asp,ENST00000305560,;SPATA5L1,missense_variant,p.Ala332Asp,ENST00000559860,;GATM,upstream_gene_variant,,ENST00000561148,;GATM,upstream_gene_variant,,ENST00000458245,;SPATA5L1,missense_variant,p.Ala332Asp,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000525552,;	1094	112	114	SUCCESS
FBN1	2200	.	GRCh37	15	48829850	48829850	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1310736674	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	123	0	ENST00000316623.5:c.694C>T	p.Arg232Cys	p.R232C	ENST00000316623	NM_000138.4	232	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32232.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGGCAGG	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Pfam_domain:PF00683,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000325527	.	7/66	.	.	.	.	.	.	.	.	COSM3816230	7/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	.	1	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Arg232Cys,ENST00000316623,;FBN1,intron_variant,,ENST00000537463,;	1150	123	127	SUCCESS
CEP152	22995	.	GRCh37	15	49030737	49030737	+	synonymous_variant	Silent	SNP	G	G	A	rs765678153	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	37	98	0	ENST00000380950.2:c.4842C>T	p.Ser1614=	p.S1614=	ENST00000380950	NM_001194998.1	1614	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58361.1	4842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCGGATGG	NONE	byFrequency	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6	.	.	ENSP00000370337	.	27/27	.	.	.	.	.	.	.	.	rs765678153	27/27	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,synonymous_variant,p.%3D,ENST00000380950,;CEP152,synonymous_variant,p.%3D,ENST00000399334,;CEP152,downstream_gene_variant,,ENST00000325747,;CEP152,intron_variant,,ENST00000561245,;	5030	98	116	SUCCESS
GALK2	2585	.	GRCh37	15	49584596	49584596	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	41	114	0	ENST00000560031.1:c.829A>T	p.Ile277Phe	p.I277F	ENST00000560031		277	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS42034.1	829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGATTAGT	NONE	.	.	hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF7,Gene3D:3.30.70.890,TIGRFAM_domain:TIGR00131,PIRSF_domain:PIRSF000530	.	.	ENSP00000453129	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000560031	Transcript	.	.	ENSG00000156958	4119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.08)	.	GALK2_HUMAN	GALK2	HGNC	H0YNR7_HUMAN,H0YND3_HUMAN,B7ZAX5_HUMAN	.	UPI000012B06E	SNV	GALK2,missense_variant,p.Ile253Phe,ENST00000559454,;GALK2,missense_variant,p.Ile30Phe,ENST00000558399,;GALK2,missense_variant,p.Ile277Phe,ENST00000560031,;GALK2,missense_variant,p.Ile148Phe,ENST00000543495,;GALK2,missense_variant,p.Ile253Phe,ENST00000396509,;GALK2,missense_variant,p.Ile266Phe,ENST00000327171,;GALK2,missense_variant,p.Ile253Phe,ENST00000544523,;GALK2,missense_variant,p.Ile202Phe,ENST00000560138,;GALK2,upstream_gene_variant,,ENST00000559580,;GALK2,non_coding_transcript_exon_variant,,ENST00000561014,;GALK2,3_prime_UTR_variant,,ENST00000560119,;	1136	114	117	SUCCESS
ATP8B4	79895	.	GRCh37	15	50331023	50331023	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372854928	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	130	0	ENST00000284509.6:c.304C>T	p.Arg102Cys	p.R102C	ENST00000284509	NM_024837.3	102	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS32238.1	304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGAAACT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	A:0.0001	ENSP00000284509	.	6/28	.	.	.	.	.	.	.	.	rs372854928	6/28	PASS	ENST00000284509	Transcript	.	.	ENSG00000104043	13536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT8B4_HUMAN	ATP8B4	HGNC	H0YMB5_HUMAN	.	UPI0000055904	SNV	ATP8B4,missense_variant,p.Arg48Cys,ENST00000558024,;ATP8B4,missense_variant,p.Arg102Cys,ENST00000559829,;ATP8B4,missense_variant,p.Arg102Cys,ENST00000284509,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558959,;ATP8B4,intron_variant,,ENST00000560437,;ATP8B4,missense_variant,p.Arg102Cys,ENST00000557955,;ATP8B4,missense_variant,p.Arg102Cys,ENST00000558906,;ATP8B4,missense_variant,p.Arg102Cys,ENST00000559726,;	446	130	89	SUCCESS
ADAM10	102	.	GRCh37	15	58936169	58936169	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	93	0	ENST00000260408.3:c.744T>C	p.Ser248=	p.S248=	ENST00000260408	NM_001110.2	248	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS10167.1	744	MUTECT|MUSE	.	ACATGACTGGA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF113,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF13574,Superfamily_domains:SSF55486	.	.	ENSP00000260408	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000260408	Transcript	1	.	ENSG00000137845	188	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADA10_HUMAN	ADAM10	HGNC	.	.	UPI00001254C8	SNV	ADAM10,synonymous_variant,p.%3D,ENST00000260408,;ADAM10,intron_variant,,ENST00000559053,;ADAM10,intron_variant,,ENST00000561288,;ADAM10,intron_variant,,ENST00000396140,;ADAM10,intron_variant,,ENST00000402627,;ADAM10,3_prime_UTR_variant,,ENST00000396136,;	1188	93	104	SUCCESS
SLTM	79811	.	GRCh37	15	59175873	59175873	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773584344	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	123	0	ENST00000380516.2:c.2948G>A	p.Arg983Gln	p.R983Q	ENST00000380516	NM_001013843.1	983	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10168.2	2948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCGCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5	.	.	ENSP00000369887	.	20/21	.	.	.	.	.	.	.	.	rs773584344	20/21	PASS	ENST00000380516	Transcript	.	.	ENSG00000137776	20709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SLTM_HUMAN	SLTM	HGNC	H0YKH2_HUMAN,A8K5V8_HUMAN	.	UPI0000039EA4	SNV	SLTM,missense_variant,p.Arg549Gln,ENST00000432750,;SLTM,missense_variant,p.Arg983Gln,ENST00000380516,;SLTM,missense_variant,p.Arg49Gln,ENST00000560494,;SLTM,missense_variant,p.Arg552Gln,ENST00000536328,;RNF111,intron_variant,,ENST00000559757,;SLTM,downstream_gene_variant,,ENST00000557791,;SLTM,3_prime_UTR_variant,,ENST00000492526,;SLTM,3_prime_UTR_variant,,ENST00000557924,;SLTM,non_coding_transcript_exon_variant,,ENST00000558052,;SLTM,non_coding_transcript_exon_variant,,ENST00000493062,;SLTM,downstream_gene_variant,,ENST00000560695,;	3036	123	122	SUCCESS
VPS13C	54832	.	GRCh37	15	62234069	62234069	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	150	0	ENST00000261517.5:c.5346T>C	p.Gly1782=	p.G1782=	ENST00000261517	NM_020821.2	1782	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32257.1	5346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAAACCCAG	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	46/85	.	.	.	.	.	.	.	.	.	46/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,synonymous_variant,p.%3D,ENST00000261517,;VPS13C,synonymous_variant,p.%3D,ENST00000395896,;VPS13C,synonymous_variant,p.%3D,ENST00000249837,;VPS13C,synonymous_variant,p.%3D,ENST00000395898,;	5420	151	115	SUCCESS
C2CD4B	388125	.	GRCh37	15	62456187	62456187	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	63	0	ENST00000380392.3:c.997G>A	p.Ala333Thr	p.A333T	ENST00000380392	NM_001007595.2	333	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32259.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGGCCAGGC	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF192,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000369755	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380392	Transcript	.	.	ENSG00000205502	33628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.13)	.	C2C4B_HUMAN	C2CD4B	HGNC	.	.	UPI0000161A38	SNV	C2CD4B,missense_variant,p.Ala333Thr,ENST00000380392,;	1126	63	65	SUCCESS
TLN2	83660	.	GRCh37	15	63009820	63009820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	73	217	0	ENST00000306829.6:c.2809G>A	p.Ala937Thr	p.A937T	ENST00000306829	NM_015059.2	937	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32261.1	2809	RADIA|MUTECT|MUSE	.	TCGCCGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1.20.1490.10,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	23/58	.	.	.	.	.	.	.	.	.	23/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.892)	.	deleterious(0)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Ala937Thr,ENST00000561311,;TLN2,missense_variant,p.Ala937Thr,ENST00000306829,;	3039	217	201	SUCCESS
TPM1	7168	.	GRCh37	15	63355067	63355067	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	16	0	ENST00000403994.3:c.772+223A>G		p.*258*	ENST00000403994	NM_001018005.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32263.1	.	RADIA|MUTECT|MUSE	.	ATGCCATCCAG	NONE	.	.	.	.	.	ENSP00000351022	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358278	Transcript	1	.	ENSG00000140416	12010	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPM1_HUMAN	TPM1	HGNC	H0YL42_HUMAN,D9YZV5_HUMAN	.	UPI000002B5A9	SNV	TPM1,3_prime_UTR_variant,,ENST00000560959,;TPM1,intron_variant,,ENST00000560970,;TPM1,intron_variant,,ENST00000317516,;TPM1,intron_variant,,ENST00000288398,;TPM1,intron_variant,,ENST00000334895,;TPM1,intron_variant,,ENST00000404484,;TPM1,intron_variant,,ENST00000358278,;TPM1,intron_variant,,ENST00000559556,;TPM1,intron_variant,,ENST00000559397,;TPM1,intron_variant,,ENST00000558910,;TPM1,intron_variant,,ENST00000403994,;TPM1,intron_variant,,ENST00000559281,;TPM1,intron_variant,,ENST00000561266,;TPM1,intron_variant,,ENST00000560445,;TPM1,intron_variant,,ENST00000357980,;TPM1,intron_variant,,ENST00000267996,;TPM1,downstream_gene_variant,,ENST00000560679,;TPM1,downstream_gene_variant,,ENST00000560615,;TPM1,intron_variant,,ENST00000559108,;TPM1,intron_variant,,ENST00000561395,;TPM1,intron_variant,,ENST00000558544,;TPM1,intron_variant,,ENST00000558072,;TPM1,intron_variant,,ENST00000558264,;TPM1,intron_variant,,ENST00000558347,;TPM1,intron_variant,,ENST00000560975,;TPM1,downstream_gene_variant,,ENST00000561242,;TPM1,downstream_gene_variant,,ENST00000559831,;TPM1,downstream_gene_variant,,ENST00000558314,;TPM1,upstream_gene_variant,,ENST00000560131,;TPM1,downstream_gene_variant,,ENST00000558868,;TPM1,downstream_gene_variant,,ENST00000558400,;	.	16	12	SUCCESS
PIF1	80119	.	GRCh37	15	65111379	65111379	+	synonymous_variant	Silent	SNP	C	C	T	rs374363106	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	85	206	0	ENST00000268043.4:c.1377G>A	p.Leu459=	p.L459=	ENST00000268043		459	ctG/ctA	0	T:0	.	.	.	.	T	L	protein_coding	YES	CCDS10195.2	1377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCAGCTC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF05970,hmmpanther:PTHR23274,HAMAP:MF_03176	.	T:0.0001	ENSP00000268043	.	9/13	.	.	.	.	.	.	.	.	rs374363106	9/13	PASS	ENST00000268043	Transcript	.	.	ENSG00000140451	26220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIF1_HUMAN	PIF1	HGNC	B2RPL7_HUMAN	.	UPI00005EDD9F	SNV	PIF1,synonymous_variant,p.%3D,ENST00000559239,;PIF1,synonymous_variant,p.%3D,ENST00000333425,;PIF1,synonymous_variant,p.%3D,ENST00000268043,;PIF1,non_coding_transcript_exon_variant,,ENST00000559872,;PIF1,non_coding_transcript_exon_variant,,ENST00000558380,;PIF1,upstream_gene_variant,,ENST00000559522,;PIF1,downstream_gene_variant,,ENST00000560444,;PIF1,downstream_gene_variant,,ENST00000560504,;PIF1,downstream_gene_variant,,ENST00000558547,;	1472	206	196	SUCCESS
MYO9A	4649	.	GRCh37	15	72338646	72338646	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs773354744	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	90	0	ENST00000356056.5:c.259A>T	p.Met87Leu	p.M87L	ENST00000356056	NM_006901.3	87	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS10239.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATCATTC	NONE	byFrequency	.	PROSITE_profiles:PS50200,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000348349	.	2/42	.	.	.	.	.	.	.	.	rs773354744	2/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	tolerated(0.93)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.Met87Leu,ENST00000424560,;MYO9A,missense_variant,p.Met87Leu,ENST00000569314,;MYO9A,missense_variant,p.Met87Leu,ENST00000564571,;MYO9A,missense_variant,p.Met87Leu,ENST00000356056,;MYO9A,missense_variant,p.Met87Leu,ENST00000444904,;MYO9A,intron_variant,,ENST00000566885,;MYO9A,downstream_gene_variant,,ENST00000564931,;RNU2-65P,downstream_gene_variant,,ENST00000410162,;AC022872.1,upstream_gene_variant,,ENST00000411321,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567560,;MYO9A,upstream_gene_variant,,ENST00000568438,;RP11-390D11.2,upstream_gene_variant,,ENST00000564027,;	732	90	104	SUCCESS
NEO1	4756	.	GRCh37	15	73344967	73344967	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	14	0	ENST00000261908.6:c.-50A>G		p.*17*	ENST00000261908	NM_002499.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10247.1	.	MUTECT|MUSE	.	AGGCAAGGGCT	NONE	.	.	.	.	.	ENSP00000341198	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,5_prime_UTR_variant,,ENST00000261908,;NEO1,5_prime_UTR_variant,,ENST00000558964,;NEO1,5_prime_UTR_variant,,ENST00000339362,;NEO1,5_prime_UTR_variant,,ENST00000560262,;	398	14	8	SUCCESS
PML	5371	.	GRCh37	15	74337203	74337203	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	24	71	0	ENST00000268058.3:c.2507del	p.Pro836LeufsTer52	p.P836Lfs*52	ENST00000268058	NM_033238.2	835	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10255.1	2503	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGTTGCCCCCT	NONE	.	.	.	.	.	ENSP00000268058	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000268058	Transcript	1	.	ENSG00000140464	9113	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PML_HUMAN	PML	HGNC	Q9UE85_HUMAN,Q05835_HUMAN	.	UPI000013D78F	deletion	PML,frameshift_variant,p.Pro836LeufsTer52,ENST00000268058,;PML,frameshift_variant,p.Pro788LeufsTer52,ENST00000565898,;PML,downstream_gene_variant,,ENST00000569965,;PML,downstream_gene_variant,,ENST00000395135,;PML,downstream_gene_variant,,ENST00000359928,;PML,downstream_gene_variant,,ENST00000564428,;PML,downstream_gene_variant,,ENST00000565317,;	2599	71	101	SUCCESS
ISLR2	57611	.	GRCh37	15	74426101	74426101	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756838824	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	111	0	ENST00000361742.3:c.1006G>A	p.Ala336Thr	p.A336T	ENST00000361742	NM_001130136.1	336	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10259.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGCAAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000355402	.	4/4	.	.	.	.	.	.	.	.	rs756838824,COSM701246	4/4	PASS	ENST00000361742	Transcript	.	.	ENSG00000167178	29286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	tolerated(0.65)	0,1	ISLR2_HUMAN	ISLR2	HGNC	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN	.	UPI000004C60F	SNV	ISLR2,missense_variant,p.Ala336Thr,ENST00000565540,;ISLR2,missense_variant,p.Ala336Thr,ENST00000445793,;ISLR2,missense_variant,p.Ala336Thr,ENST00000453268,;ISLR2,missense_variant,p.Ala336Thr,ENST00000361742,;ISLR2,missense_variant,p.Ala336Thr,ENST00000419208,;ISLR2,missense_variant,p.Ala336Thr,ENST00000435464,;ISLR2,missense_variant,p.Ala336Thr,ENST00000565159,;ISLR2,downstream_gene_variant,,ENST00000567206,;RP11-247C2.2,upstream_gene_variant,,ENST00000514871,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000569886,;RP11-247C2.2,upstream_gene_variant,,ENST00000563727,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	1775	111	106	SUCCESS
EDC3	80153	.	GRCh37	15	74932931	74932931	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753183030	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	104	0	ENST00000315127.4:c.850T>C	p.Tyr284His	p.Y284H	ENST00000315127	NM_025083.3	284	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS10267.1	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATAGGAAA	NONE	.	.	PROSITE_profiles:PS51385,hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612,Pfam_domain:PF09532,Superfamily_domains:SSF64153	.	.	ENSP00000320503	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000315127	Transcript	.	.	ENSG00000179151	26114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.22)	.	EDC3_HUMAN	EDC3	HGNC	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN	.	UPI000007309A	SNV	EDC3,missense_variant,p.Tyr284His,ENST00000315127,;EDC3,missense_variant,p.Tyr65His,ENST00000562174,;EDC3,missense_variant,p.Tyr284His,ENST00000568176,;EDC3,missense_variant,p.Tyr59His,ENST00000562974,;EDC3,missense_variant,p.Tyr101His,ENST00000566219,;EDC3,missense_variant,p.Tyr284His,ENST00000426797,;EDC3,upstream_gene_variant,,ENST00000569606,;CLK3,downstream_gene_variant,,ENST00000561673,;EDC3,3_prime_UTR_variant,,ENST00000565602,;	1032	104	105	SUCCESS
PEAK1	79834	.	GRCh37	15	77471265	77471265	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	52	0	ENST00000312493.4:c.3004G>A	p.Val1002Met	p.V1002M	ENST00000312493	NM_024776.3	1002	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS42062.1	3004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCACACTGA	NONE	.	.	hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5	.	.	ENSP00000452796	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.07)	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,missense_variant,p.Val1002Met,ENST00000560626,;PEAK1,missense_variant,p.Val1002Met,ENST00000558305,;PEAK1,missense_variant,p.Val1002Met,ENST00000312493,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,downstream_gene_variant,,ENST00000564328,;PEAK1,non_coding_transcript_exon_variant,,ENST00000559791,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,non_coding_transcript_exon_variant,,ENST00000560854,;	3480	52	71	SUCCESS
LINGO1	84894	.	GRCh37	15	77908210	77908210	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	10	0	ENST00000355300.6:c.39G>T	p.Arg13Ser	p.R13S	ENST00000355300	NM_032808.5	13	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS45313.1	39	MUTECT|MUSE	.	ATGCTCCTCAC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31	.	.	ENSP00000347451	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355300	Transcript	.	.	ENSG00000169783	21205	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.045)	.	tolerated(0.7)	.	LIGO1_HUMAN	LINGO1	HGNC	H3BQ49_HUMAN,H3BN48_HUMAN,H3BMW2_HUMAN,H3BMN3_HUMAN,H3BM59_HUMAN,H0YNK7_HUMAN	.	UPI00000377A0	SNV	LINGO1,missense_variant,p.Arg7Ser,ENST00000570216,;LINGO1,missense_variant,p.Arg7Ser,ENST00000559893,;LINGO1,missense_variant,p.Arg7Ser,ENST00000562933,;LINGO1,missense_variant,p.Arg13Ser,ENST00000355300,;LINGO1,missense_variant,p.Arg7Ser,ENST00000567726,;LINGO1,missense_variant,p.Arg7Ser,ENST00000561030,;LINGO1,missense_variant,p.Arg7Ser,ENST00000561686,;LINGO1,missense_variant,p.Arg7Ser,ENST00000566711,;LINGO1,missense_variant,p.Arg18Ser,ENST00000557798,;LINGO1,missense_variant,p.Arg7Ser,ENST00000564472,;LINGO1,downstream_gene_variant,,ENST00000563316,;	214	10	10	SUCCESS
ST20-MTHFS	100528021	.	GRCh37	15	80216041	80216042	+	5_prime_UTR_variant	5'UTR	INS	-	-	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	96	0	ENST00000479961.1:c.-260dup		p.*87*	ENST00000479961	NM_001199760.1	175		0	.	.	.	.	.	G	R/RX	protein_coding	YES	.	523-524	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATTCGGGGA	NONE	.	.	.	.	.	ENSP00000440412	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000542003	Transcript	.	.	ENSG00000257028	.	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	C15ORF37	Uniprot_gn	Q96AL6_HUMAN	.	UPI0000070D44	insertion	C15ORF37,frameshift_variant,p.Gly177ArgfsTer43,ENST00000542003,;ST20-MTHFS,5_prime_UTR_variant,,ENST00000479961,;C15orf37,3_prime_UTR_variant,,ENST00000560255,;ST20,5_prime_UTR_variant,,ENST00000485386,;ST20-MTHFS,non_coding_transcript_exon_variant,,ENST00000494999,;	535-536	96	92	SUCCESS
AP3B2	8120	.	GRCh37	15	83350208	83350208	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	71	0	ENST00000261722.3:c.485G>A	p.Arg162Gln	p.R162Q	ENST00000261722	NM_004644.4	162	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45331.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCGCACA	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371	.	.	ENSP00000261722	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000261722	Transcript	.	.	ENSG00000103723	567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP3B2_HUMAN	AP3B2	HGNC	F5GWU4_HUMAN	.	UPI0000125030	SNV	AP3B2,missense_variant,p.Arg118Gln,ENST00000541693,;AP3B2,missense_variant,p.Arg162Gln,ENST00000535359,;AP3B2,missense_variant,p.Arg130Gln,ENST00000535348,;AP3B2,missense_variant,p.Arg162Gln,ENST00000261722,;AP3B2,downstream_gene_variant,,ENST00000542200,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000559888,;AP3B2,downstream_gene_variant,,ENST00000535385,;AP3B2,upstream_gene_variant,,ENST00000543938,;	693	71	71	SUCCESS
ZSCAN2	54993	.	GRCh37	15	85165006	85165006	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	108	0	ENST00000448803.2:c.1580A>T	p.Glu527Val	p.E527V	ENST00000448803	NM_181877.3	527	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10329.2	1580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGAGAAGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF9,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000410198	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000448803	Transcript	.	.	ENSG00000176371	20994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZSCA2_HUMAN	ZSCAN2	HGNC	F8W6Y9_HUMAN,F5H789_HUMAN,F5H2D8_HUMAN,F5H1K4_HUMAN	.	UPI000021D4BC	SNV	ZSCAN2,missense_variant,p.Glu527Val,ENST00000546148,;ZSCAN2,missense_variant,p.Glu527Val,ENST00000448803,;ZSCAN2,missense_variant,p.Glu377Val,ENST00000358472,;ZSCAN2,missense_variant,p.Glu526Val,ENST00000327179,;ZSCAN2,intron_variant,,ENST00000538076,;ZSCAN2,intron_variant,,ENST00000485222,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,downstream_gene_variant,,ENST00000540936,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,missense_variant,p.Glu527Val,ENST00000540894,;	1872	109	119	SUCCESS
ALPK3	57538	.	GRCh37	15	85403072	85403072	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs779689802	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	85	0	ENST00000258888.5:c.4637A>G	p.Tyr1546Cys	p.Y1546C	ENST00000258888	NM_020778.4	1546	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10333.1	4637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTATCGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000258888	.	8/14	.	.	.	.	.	.	.	.	rs779689802	8/14	PASS	ENST00000258888	Transcript	.	.	ENSG00000136383	17574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ALPK3_HUMAN	ALPK3	HGNC	.	.	UPI000013D013	SNV	ALPK3,missense_variant,p.Tyr1546Cys,ENST00000258888,;ALPK3,upstream_gene_variant,,ENST00000558077,;	4804	85	76	SUCCESS
NTRK3	4916	.	GRCh37	15	88576093	88576093	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	72	1	ENST00000360948.2:c.1580A>G	p.Asp527Gly	p.D527G	ENST00000360948	NM_001012338.2	527	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS32322.1	1580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGTCCGGC	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416	.	.	ENSP00000354207	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.08)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.Asp527Gly,ENST00000317501,;NTRK3,missense_variant,p.Asp519Gly,ENST00000558676,;NTRK3,missense_variant,p.Asp519Gly,ENST00000557856,;NTRK3,missense_variant,p.Asp527Gly,ENST00000540489,;NTRK3,missense_variant,p.Asp527Gly,ENST00000394480,;NTRK3,missense_variant,p.Asp429Gly,ENST00000542733,;NTRK3,missense_variant,p.Asp519Gly,ENST00000357724,;NTRK3,missense_variant,p.Asp527Gly,ENST00000355254,;NTRK3,missense_variant,p.Asp527Gly,ENST00000360948,;NTRK3,non_coding_transcript_exon_variant,,ENST00000537300,;NTRK3,non_coding_transcript_exon_variant,,ENST00000558306,;	1742	73	60	SUCCESS
MFGE8	4240	.	GRCh37	15	89449105	89449105	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1318710823	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	53	152	0	ENST00000268150.8:c.568G>A	p.Ala190Thr	p.A190T	ENST00000268150	NM_005928.2	190	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10347.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGCGTTTT	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Pfam_domain:PF00754,Gene3D:2.60.120.260,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,PROSITE_profiles:PS50022	.	.	ENSP00000268150	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000268150	Transcript	.	.	ENSG00000140545	7036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	MFGM_HUMAN	MFGE8	HGNC	.	.	UPI000013D7A3	SNV	MFGE8,missense_variant,p.Ala182Thr,ENST00000539437,;MFGE8,missense_variant,p.Ala190Thr,ENST00000268150,;MFGE8,missense_variant,p.Ala146Thr,ENST00000542878,;MFGE8,missense_variant,p.Ala190Thr,ENST00000566497,;MFGE8,missense_variant,p.Ala190Thr,ENST00000558029,;MFGE8,missense_variant,p.Ala190Thr,ENST00000268151,;MFGE8,intron_variant,,ENST00000559997,;MFGE8,upstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559259,;MFGE8,downstream_gene_variant,,ENST00000559770,;MFGE8,upstream_gene_variant,,ENST00000560937,;MFGE8,downstream_gene_variant,,ENST00000558773,;MFGE8,downstream_gene_variant,,ENST00000558352,;MFGE8,downstream_gene_variant,,ENST00000557944,;MFGE8,downstream_gene_variant,,ENST00000559143,;	660	152	129	SUCCESS
ABHD2	11057	.	GRCh37	15	89698708	89698708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	63	135	0	ENST00000352732.5:c.481A>G	p.Asn161Asp	p.N161D	ENST00000352732	NM_152924.4	161	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS10348.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGAACCAC	NONE	.	.	hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF35,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF005211,Superfamily_domains:SSF53474	.	.	ENSP00000268129	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000352732	Transcript	.	.	ENSG00000140526	18717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	.	tolerated(0.06)	.	ABHD2_HUMAN	ABHD2	HGNC	H3BUZ6_HUMAN,H3BN19_HUMAN,H3BMT2_HUMAN	.	UPI000012E24E	SNV	ABHD2,missense_variant,p.Asn161Asp,ENST00000352732,;ABHD2,missense_variant,p.Asn161Asp,ENST00000565973,;ABHD2,missense_variant,p.Asn161Asp,ENST00000355100,;ABHD2,downstream_gene_variant,,ENST00000565066,;ABHD2,downstream_gene_variant,,ENST00000569411,;ABHD2,non_coding_transcript_exon_variant,,ENST00000562073,;	1001	135	127	SUCCESS
C15orf38	0	.	GRCh37	15	90455841	90455841	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	12	0	ENST00000357484.5:c.92+135C>A		p.*31*	ENST00000357484	NM_182616.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42080.1	.	MUTECT|MUSE	.	GAGGGGCGGAC	NONE	.	.	.	.	.	ENSP00000350075	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357484	Transcript	.	.	ENSG00000242498	28782	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARPIN_HUMAN	C15orf38	HGNC	H0YMP5_HUMAN	.	UPI0000161A90	SNV	C15orf38,5_prime_UTR_variant,,ENST00000460685,;C15orf38-AP3S2,intron_variant,,ENST00000398333,;C15orf38,intron_variant,,ENST00000357484,;C15orf38-AP3S2,upstream_gene_variant,,ENST00000559629,;C15orf38-AP3S2,upstream_gene_variant,,ENST00000558648,;	.	12	11	SUCCESS
SV2B	9899	.	GRCh37	15	91769314	91769314	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	13	0	ENST00000330276.4:c.-180T>A		p.*60*	ENST00000330276				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10370.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATCTGGT	NONE	.	.	.	.	.	ENSP00000377779	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000394232	Transcript	.	.	ENSG00000185518	16874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SV2B_HUMAN	SV2B	HGNC	.	.	UPI000006FCF1	SNV	SV2B,5_prime_UTR_variant,,ENST00000330276,;SV2B,5_prime_UTR_variant,,ENST00000394232,;SV2B,intron_variant,,ENST00000545111,;SV2B,intron_variant,,ENST00000557291,;SV2B,5_prime_UTR_variant,,ENST00000557410,;	291	13	17	SUCCESS
SOX8	30812	.	GRCh37	16	1033875	1033875	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	87	212	0	ENST00000293894.3:c.570G>A	p.Ala190=	p.A190=	ENST00000293894	NM_014587.3	190	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10428.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCGGAGCT	NONE	.	.	hmmpanther:PTHR10270:SF20,hmmpanther:PTHR10270	.	.	ENSP00000293894	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000293894	Transcript	.	.	ENSG00000005513	11203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX8_HUMAN	SOX8	HGNC	.	.	UPI00000015FB	SNV	SOX8,synonymous_variant,p.%3D,ENST00000293894,;AC009041.2,downstream_gene_variant,,ENST00000601510,;LMF1,upstream_gene_variant,,ENST00000570014,;RP11-161M6.2,upstream_gene_variant,,ENST00000565467,;RP11-161M6.2,upstream_gene_variant,,ENST00000562570,;RP11-161M6.2,upstream_gene_variant,,ENST00000563863,;RP11-161M6.2,upstream_gene_variant,,ENST00000565069,;RP11-161M6.2,upstream_gene_variant,,ENST00000563837,;RP11-161M6.2,upstream_gene_variant,,ENST00000568394,;SOX8,non_coding_transcript_exon_variant,,ENST00000566034,;LMF1,upstream_gene_variant,,ENST00000545827,;	685	212	194	SUCCESS
SOX8	30812	.	GRCh37	16	1034924	1034924	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	17	209	0	ENST00000293894.3:c.882del	p.Ala295ProfsTer149	p.A295Pfs*149	ENST00000293894	NM_014587.3	293	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS10428.1	879	INDELOCATOR|VARSCANI	.	GGGCGGCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10270:SF20,hmmpanther:PTHR10270	.	.	ENSP00000293894	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000293894	Transcript	.	.	ENSG00000005513	11203	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX8_HUMAN	SOX8	HGNC	.	.	UPI00000015FB	deletion	SOX8,frameshift_variant,p.Ala295ProfsTer149,ENST00000293894,;AC009041.2,downstream_gene_variant,,ENST00000601510,;LMF1,upstream_gene_variant,,ENST00000570014,;RP11-161M6.2,upstream_gene_variant,,ENST00000565467,;RP11-161M6.2,upstream_gene_variant,,ENST00000562570,;RP11-161M6.2,upstream_gene_variant,,ENST00000563863,;RP11-161M6.2,upstream_gene_variant,,ENST00000565069,;RP11-161M6.2,upstream_gene_variant,,ENST00000563837,;RP11-161M6.2,upstream_gene_variant,,ENST00000568394,;SOX8,non_coding_transcript_exon_variant,,ENST00000566034,;LMF1,upstream_gene_variant,,ENST00000545827,;	994	209	190	SUCCESS
GSPT1	2935	.	GRCh37	16	11981478	11981478	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	70	195	0	ENST00000420576.2:c.492T>C	p.Ser164=	p.S164=	ENST00000420576	NM_001130007.1	164	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS45412.1	906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAACTCTT	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF125,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540,Prints_domain:PR00315	.	.	ENSP00000398131	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000434724	Transcript	.	.	ENSG00000103342	4621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERF3A_HUMAN	GSPT1	HGNC	.	.	UPI000049DE01	SNV	GSPT1,synonymous_variant,p.%3D,ENST00000565267,;GSPT1,synonymous_variant,p.%3D,ENST00000439887,;GSPT1,synonymous_variant,p.%3D,ENST00000563468,;GSPT1,synonymous_variant,p.%3D,ENST00000420576,;GSPT1,synonymous_variant,p.%3D,ENST00000434724,;GSPT1,synonymous_variant,p.%3D,ENST00000568849,;RP11-166B2.8,intron_variant,,ENST00000574364,;GSPT1,upstream_gene_variant,,ENST00000564790,;GSPT1,downstream_gene_variant,,ENST00000567631,;GSPT1,upstream_gene_variant,,ENST00000562794,;	1106	195	174	SUCCESS
ERCC4	2072	.	GRCh37	16	14041629	14041629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777184889	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	86	0	ENST00000311895.7:c.2176C>T	p.Arg726Cys	p.R726C	ENST00000311895	NM_005236.2	726	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS32390.1	2176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCGCAAG	NONE	byFrequency	.	hmmpanther:PTHR10150,Gene3D:1j23A00,Pfam_domain:PF02732,TIGRFAM_domain:TIGR00596,SMART_domains:SM00891,Superfamily_domains:SSF52980	.	.	ENSP00000310520	.	11/11	.	.	.	.	.	.	.	.	rs777184889	11/11	PASS	ENST00000311895	Transcript	.	.	ENSG00000175595	3436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	XPF_HUMAN	ERCC4	HGNC	B4DXD8_HUMAN	.	UPI0000161BBF	SNV	ERCC4,missense_variant,p.Arg726Cys,ENST00000311895,;ERCC4,3_prime_UTR_variant,,ENST00000462862,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;	2185	86	98	SUCCESS
UNKL	64718	.	GRCh37	16	1464671	1464671	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	54	0	ENST00000389221.4:c.22G>C	p.Ala8Pro	p.A8P	ENST00000389221	NM_001193388.3	8	Gcg/Ccg	0	.	.	.	.	.	G	A/P	protein_coding	YES	.	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGCCGCTT	NONE	.	.	hmmpanther:PTHR14493:SF37,hmmpanther:PTHR14493	.	.	ENSP00000373873	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000389221	Transcript	.	.	ENSG00000059145	14184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.2)	.	UNKL_HUMAN	UNKL	HGNC	D6RA68_HUMAN	.	UPI0001AE676E	SNV	UNKL,missense_variant,p.Ala8Pro,ENST00000397462,;UNKL,missense_variant,p.Ala8Pro,ENST00000508903,;UNKL,missense_variant,p.Ala8Pro,ENST00000301712,;UNKL,missense_variant,p.Ala8Pro,ENST00000389221,;LA16c-312E8.2,downstream_gene_variant,,ENST00000568554,;UNKL,non_coding_transcript_exon_variant,,ENST00000503648,;UNKL,missense_variant,p.Ala8Pro,ENST00000382757,;UNKL,upstream_gene_variant,,ENST00000566707,;	22	54	64	SUCCESS
PARN	5073	.	GRCh37	16	14721031	14721031	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs754319643	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	58	133	0	ENST00000437198.2:c.259T>G	p.Ser87Ala	p.S87A	ENST00000437198	NM_002582.3	87	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS45419.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGACTTCG	NONE	.	.	Superfamily_domains:SSF53098,Pfam_domain:PF04857,Gene3D:3.30.420.10,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF21	.	.	ENSP00000387911	.	5/24	.	.	.	.	.	.	.	.	rs754319643	5/24	PASS	ENST00000437198	Transcript	.	.	ENSG00000140694	8609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.45)	.	PARN_HUMAN	PARN	HGNC	B3KN69_HUMAN	.	UPI0000031F7A	SNV	PARN,missense_variant,p.Ser26Ala,ENST00000341484,;PARN,missense_variant,p.Ser87Ala,ENST00000437198,;PARN,intron_variant,,ENST00000539279,;PARN,intron_variant,,ENST00000420015,;PARN,downstream_gene_variant,,ENST00000562896,;PARN,non_coding_transcript_exon_variant,,ENST00000566021,;PARN,missense_variant,p.Val64Gly,ENST00000563641,;PARN,intron_variant,,ENST00000538472,;	401	133	151	SUCCESS
TMEM204	79652	.	GRCh37	16	1592009	1592009	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766333793	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	48	122	0	ENST00000253934.5:c.368G>T	p.Gly123Val	p.G123V	ENST00000253934	NM_001256541.1	123	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS42098.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14627	.	.	ENSP00000454945	.	2/3	.	.	.	.	.	.	.	.	rs766333793	2/3	PASS	ENST00000566264	Transcript	.	.	ENSG00000131634	14158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.04)	.	TM204_HUMAN	TMEM204	HGNC	.	.	UPI0000051E42	SNV	TMEM204,missense_variant,p.Gly123Val,ENST00000566264,;TMEM204,missense_variant,p.Gly123Val,ENST00000253934,;IFT140,intron_variant,,ENST00000426508,;IFT140,intron_variant,,ENST00000565298,;IFT140,intron_variant,,ENST00000397417,;	1071	122	130	SUCCESS
ABCC1	4363	.	GRCh37	16	16177388	16177388	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	25	151	0	ENST00000399410.3:c.2281A>T	p.Ile761Phe	p.I761F	ENST00000399410	NM_004996.3	761	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS42122.1	2281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGATTGGC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000382342	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000399410	Transcript	.	.	ENSG00000103222	51	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MRP1_HUMAN	ABCC1	HGNC	Q9BV39_HUMAN	.	UPI00001FEEFC	SNV	ABCC1,missense_variant,p.Ile761Phe,ENST00000346370,;ABCC1,missense_variant,p.Ile761Phe,ENST00000399408,;ABCC1,missense_variant,p.Ile761Phe,ENST00000345148,;ABCC1,missense_variant,p.Ile660Phe,ENST00000572882,;ABCC1,missense_variant,p.Ile761Phe,ENST00000399410,;ABCC1,intron_variant,,ENST00000349029,;ABCC1,intron_variant,,ENST00000351154,;ABCC1,non_coding_transcript_exon_variant,,ENST00000575422,;	2456	151	122	SUCCESS
NTHL1	4913	.	GRCh37	16	2093714	2093714	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	43	0	ENST00000219066.1:c.563A>G	p.Tyr188Cys	p.Y188C	ENST00000219066	NM_002528.5	188	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10457.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTATTTC	NONE	.	.	hmmpanther:PTHR10359,Gene3D:1.10.340.30,Pfam_domain:PF00730,SMART_domains:SM00478,Superfamily_domains:SSF48150	.	.	ENSP00000219066	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000219066	Transcript	.	.	ENSG00000065057	8028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	.	deleterious(0)	.	NTHL1_HUMAN	NTHL1	HGNC	E5KTI5_HUMAN	.	UPI0000130586	SNV	NTHL1,missense_variant,p.Tyr111Cys,ENST00000566380,;NTHL1,missense_variant,p.Tyr188Cys,ENST00000219066,;TSC2,upstream_gene_variant,,ENST00000439673,;TSC2,upstream_gene_variant,,ENST00000219476,;TSC2,upstream_gene_variant,,ENST00000568454,;TSC2,upstream_gene_variant,,ENST00000401874,;SLC9A3R2,downstream_gene_variant,,ENST00000424542,;TSC2,upstream_gene_variant,,ENST00000353929,;TSC2,upstream_gene_variant,,ENST00000350773,;TSC2,upstream_gene_variant,,ENST00000382538,;NTHL1,non_coding_transcript_exon_variant,,ENST00000562951,;NTHL1,missense_variant,p.Tyr154Cys,ENST00000561841,;NTHL1,3_prime_UTR_variant,,ENST00000568513,;NTHL1,non_coding_transcript_exon_variant,,ENST00000562120,;NTHL1,non_coding_transcript_exon_variant,,ENST00000565406,;NTHL1,non_coding_transcript_exon_variant,,ENST00000567727,;TSC2,upstream_gene_variant,,ENST00000461648,;NTHL1,upstream_gene_variant,,ENST00000561862,;TSC2,upstream_gene_variant,,ENST00000439117,;	582	43	34	SUCCESS
OTOA	146183	.	GRCh37	16	21702950	21702950	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	19	81	0	ENST00000286149.4:c.681C>T	p.Ser227=	p.S227=	ENST00000286149		227	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10600.2	681	RADIA|MUTECT|MUSE	.	CATTCCCAGAG	NONE	.	.	hmmpanther:PTHR23412:SF14,hmmpanther:PTHR23412	.	.	ENSP00000373610	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000388958	Transcript	.	.	ENSG00000155719	16378	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OTOAN_HUMAN	OTOA	HGNC	B4DZ38_HUMAN	.	UPI00005C8607	SNV	OTOA,synonymous_variant,p.%3D,ENST00000388956,;OTOA,synonymous_variant,p.%3D,ENST00000286149,;OTOA,synonymous_variant,p.%3D,ENST00000388958,;	682	81	109	SUCCESS
OTOA	146183	.	GRCh37	16	21702955	21702955	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	20	81	0	ENST00000286149.4:c.686G>A	p.Arg229Lys	p.R229K	ENST00000286149		229	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS10600.2	686	RADIA|MUTECT|MUSE	.	CCAGAGAGCTC	NONE	.	.	hmmpanther:PTHR23412:SF14,hmmpanther:PTHR23412	.	.	ENSP00000373610	.	8/28	.	.	.	.	.	.	.	.	COSM3888169,COSM3888170	8/28	PASS	ENST00000388958	Transcript	.	.	ENSG00000155719	16378	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.068)	.	tolerated(0.23)	1,1	OTOAN_HUMAN	OTOA	HGNC	B4DZ38_HUMAN	.	UPI00005C8607	SNV	OTOA,missense_variant,p.Arg150Lys,ENST00000388956,;OTOA,missense_variant,p.Arg229Lys,ENST00000286149,;OTOA,missense_variant,p.Arg229Lys,ENST00000388958,;	687	81	113	SUCCESS
OTOA	146183	.	GRCh37	16	21721362	21721362	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	44	113	0	ENST00000286149.4:c.1300G>A	p.Val434Ile	p.V434I	ENST00000286149		434	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10600.2	1258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGTCTCA	NONE	.	.	hmmpanther:PTHR23412:SF14,hmmpanther:PTHR23412	.	.	ENSP00000373610	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000388958	Transcript	.	.	ENSG00000155719	16378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.12)	.	OTOAN_HUMAN	OTOA	HGNC	B4DZ38_HUMAN	.	UPI00005C8607	SNV	OTOA,missense_variant,p.Val341Ile,ENST00000388956,;OTOA,missense_variant,p.Val434Ile,ENST00000286149,;OTOA,missense_variant,p.Val96Ile,ENST00000388957,;OTOA,missense_variant,p.Val420Ile,ENST00000388958,;OTOA,downstream_gene_variant,,ENST00000569064,;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;	1259	113	140	SUCCESS
E4F1	1877	.	GRCh37	16	2284330	2284330	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768604168	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	49	144	0	ENST00000301727.4:c.1534G>A	p.Val512Ile	p.V512I	ENST00000301727	NM_004424.3	512	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32370.1	1534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCGTCCAC	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF3,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000301727	.	10/14	.	.	.	.	.	.	.	.	rs768604168	10/14	PASS	ENST00000301727	Transcript	.	.	ENSG00000167967	3121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.23)	.	E4F1_HUMAN	E4F1	HGNC	.	.	UPI00001AED0F	SNV	E4F1,missense_variant,p.Val512Ile,ENST00000301727,;E4F1,missense_variant,p.Val512Ile,ENST00000564139,;E4F1,intron_variant,,ENST00000565090,;DNASE1L2,upstream_gene_variant,,ENST00000569184,;DNASE1L2,upstream_gene_variant,,ENST00000567494,;DNASE1L2,upstream_gene_variant,,ENST00000320700,;E4F1,downstream_gene_variant,,ENST00000565413,;DNASE1L2,upstream_gene_variant,,ENST00000382437,;DNASE1L2,upstream_gene_variant,,ENST00000564065,;RP11-304L19.12,downstream_gene_variant,,ENST00000564055,;RP11-304L19.12,downstream_gene_variant,,ENST00000594097,;E4F1,non_coding_transcript_exon_variant,,ENST00000569796,;E4F1,downstream_gene_variant,,ENST00000562589,;E4F1,upstream_gene_variant,,ENST00000567111,;E4F1,downstream_gene_variant,,ENST00000563643,;E4F1,downstream_gene_variant,,ENST00000564930,;	1582	144	139	SUCCESS
RBBP6	5930	.	GRCh37	16	24580479	24580479	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	309	109	332	0	ENST00000319715.4:c.2472del	p.Glu825AsnfsTer70	p.E825Nfs*70	ENST00000319715	NM_006910.4	823	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS10621.1	2468	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTTGAAAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15439:SF1,hmmpanther:PTHR15439	.	.	ENSP00000317872	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000319715	Transcript	.	.	ENSG00000122257	9889	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBBP6_HUMAN	RBBP6	HGNC	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN	.	UPI00001A96B8	deletion	RBBP6,frameshift_variant,p.Glu825AsnfsTer70,ENST00000319715,;RBBP6,frameshift_variant,p.Glu791AsnfsTer70,ENST00000348022,;RBBP6,frameshift_variant,p.Glu692AsnfsTer70,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	2900	332	418	SUCCESS
KIAA0556	0	.	GRCh37	16	27752080	27752080	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1567378343	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	51	129	0	ENST00000261588.4:c.2462A>G	p.Asn821Ser	p.N821S	ENST00000261588	NM_015202.2	821	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32415.1	2462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAACACCA	NONE	.	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534	.	.	ENSP00000261588	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.73)	.	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,missense_variant,p.Asn821Ser,ENST00000261588,;KIAA0556,intron_variant,,ENST00000573850,;	2481	129	136	SUCCESS
SRRM2	23524	.	GRCh37	16	2818134	2818134	+	synonymous_variant	Silent	SNP	G	G	C	rs765710759	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	36	0	ENST00000301740.8:c.7605G>C	p.Ser2535=	p.S2535=	ENST00000301740	NM_016333.3	2535	tcG/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS32373.1	7605	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCTCGTCGTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	rs765710759,COSM969435	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,synonymous_variant,p.%3D,ENST00000301740,;TCEB2,downstream_gene_variant,,ENST00000494946,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,upstream_gene_variant,,ENST00000570539,;TCEB2,downstream_gene_variant,,ENST00000409477,;TCEB2,downstream_gene_variant,,ENST00000572954,;TCEB2,downstream_gene_variant,,ENST00000262306,;TCEB2,downstream_gene_variant,,ENST00000409906,;AC092117.2,upstream_gene_variant,,ENST00000581119,;SRRM2,non_coding_transcript_exon_variant,,ENST00000572721,;SRRM2,non_coding_transcript_exon_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000573583,;SRRM2,upstream_gene_variant,,ENST00000574866,;SRRM2,downstream_gene_variant,,ENST00000576674,;SRRM2,synonymous_variant,p.%3D,ENST00000572883,;SRRM2,non_coding_transcript_exon_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000573692,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,upstream_gene_variant,,ENST00000574331,;SRRM2,upstream_gene_variant,,ENST00000570705,;	8154	36	54	SUCCESS
RRN3P2	653390	.	GRCh37	16	29115241	29115241	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	17	0	ENST00000427965.2:n.1367-155A>G		p.*456*	ENST00000427965				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	GAGCCACTGCG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000562618	Transcript	.	.	ENSG00000260908	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CTB-134H23.3	Clone_based_vega_gene	.	.	.	SNV	CTB-134H23.3,non_coding_transcript_exon_variant,,ENST00000562618,;RRN3P2,intron_variant,,ENST00000564580,;RRN3P2,intron_variant,,ENST00000427965,;CTB-134H23.3,downstream_gene_variant,,ENST00000565800,;CTB-134H23.3,intron_variant,,ENST00000567688,;RRN3P2,intron_variant,,ENST00000566038,;	1577	17	13	SUCCESS
RRN3P2	653390	.	GRCh37	16	29115257	29115257	+	intron_variant,non_coding_transcript_variant	Intron	DEL	T	T	-	rs1326551498	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	25	0	ENST00000427965.2:n.1367-133del		p.*456*	ENST00000427965				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGGTTTTTT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000562618	Transcript	.	.	ENSG00000260908	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CTB-134H23.3	Clone_based_vega_gene	.	.	.	deletion	CTB-134H23.3,non_coding_transcript_exon_variant,,ENST00000562618,;RRN3P2,intron_variant,,ENST00000564580,;RRN3P2,intron_variant,,ENST00000427965,;CTB-134H23.3,downstream_gene_variant,,ENST00000565800,;CTB-134H23.3,intron_variant,,ENST00000567688,;RRN3P2,intron_variant,,ENST00000566038,;	1561	25	24	SUCCESS
MVP	9961	.	GRCh37	16	29848108	29848108	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	40	101	0	ENST00000357402.5:c.738G>A	p.Gly246=	p.G246=	ENST00000357402	NM_017458.3	246	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10656.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGGAGGA	NONE	.	.	PROSITE_profiles:PS51224,hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165,Pfam_domain:PF01505	.	.	ENSP00000349977	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000357402	Transcript	.	.	ENSG00000013364	7531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MVP_HUMAN	MVP	HGNC	H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN	.	UPI000012FA9C	SNV	MVP,missense_variant,p.Gly61Arg,ENST00000452209,;MVP,synonymous_variant,p.%3D,ENST00000395353,;MVP,synonymous_variant,p.%3D,ENST00000357402,;MVP,intron_variant,,ENST00000563558,;MVP,downstream_gene_variant,,ENST00000570234,;MVP,downstream_gene_variant,,ENST00000563915,;MVP,non_coding_transcript_exon_variant,,ENST00000570061,;MVP,missense_variant,p.Gly35Glu,ENST00000569887,;MVP,missense_variant,p.Gly77Glu,ENST00000566859,;MVP,downstream_gene_variant,,ENST00000562463,;MVP,upstream_gene_variant,,ENST00000568068,;MVP,downstream_gene_variant,,ENST00000569612,;MVP,downstream_gene_variant,,ENST00000563123,;	876	101	108	SUCCESS
CLDN9	9080	.	GRCh37	16	3063895	3063895	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs763852712	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	65	0	ENST00000445369.2:c.537del	p.Leu180SerfsTer196	p.L180Sfs*196	ENST00000445369	NM_020982.3	178	Ggg/gg	0	T:0.0002	.	.	.	.	-	G/X	protein_coding	YES	CCDS10487.1	532	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGCGGGGGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12002:SF42,hmmpanther:PTHR12002,Pfam_domain:PF00822,Prints_domain:PR01077	.	T:0	ENSP00000398017	.	1/1	.	.	.	.	.	.	.	.	rs374732646	1/1	PASS	ENST00000445369	Transcript	.	.	ENSG00000213937	2051	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLD9_HUMAN	CLDN9	HGNC	.	.	UPI0000035DA5	deletion	CLDN9,frameshift_variant,p.Leu180SerfsTer196,ENST00000445369,;TNFRSF12A,upstream_gene_variant,,ENST00000573001,;CLDN6,downstream_gene_variant,,ENST00000572154,;CLDN6,downstream_gene_variant,,ENST00000396925,;CLDN6,downstream_gene_variant,,ENST00000328796,;	1439	65	97	SUCCESS
PRR14	78994	.	GRCh37	16	30667498	30667498	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	31	89	0	ENST00000300835.4:c.1628del	p.Gly543AlafsTer25	p.G543Afs*25	ENST00000300835	NM_024031.2	542	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS10687.1	1624	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGCAGGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14522	.	.	ENSP00000441641	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000542965	Transcript	.	.	ENSG00000156858	28458	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRR14_HUMAN	PRR14	HGNC	H3BQL8_HUMAN,H3BND2_HUMAN	.	UPI000006F1D0	deletion	PRR14,frameshift_variant,p.Gly543AlafsTer25,ENST00000542965,;PRR14,frameshift_variant,p.Gly543AlafsTer25,ENST00000300835,;PRR14,downstream_gene_variant,,ENST00000569864,;FBRS,upstream_gene_variant,,ENST00000568722,;FBRS,upstream_gene_variant,,ENST00000356166,;PRR14,downstream_gene_variant,,ENST00000568754,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,non_coding_transcript_exon_variant,,ENST00000567989,;PRR14,non_coding_transcript_exon_variant,,ENST00000287463,;PRR14,non_coding_transcript_exon_variant,,ENST00000564946,;PRR14,non_coding_transcript_exon_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;FBRS,upstream_gene_variant,,ENST00000484152,;PRR14,downstream_gene_variant,,ENST00000563211,;PRR14,downstream_gene_variant,,ENST00000565410,;PRR14,downstream_gene_variant,,ENST00000563399,;FBRS,upstream_gene_variant,,ENST00000543786,;FBRS,upstream_gene_variant,,ENST00000498588,;	2080	89	113	SUCCESS
SRCAP	10847	.	GRCh37	16	30727435	30727435	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	85	0	ENST00000262518.4:c.2542C>T	p.Gln848Ter	p.Q848*	ENST00000262518	NM_006662.2	848	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10689.2	2542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCAGATG	NONE	.	.	hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540	.	.	ENSP00000262518	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,stop_gained,p.Gln848Ter,ENST00000262518,;SRCAP,stop_gained,p.Gln848Ter,ENST00000344771,;SRCAP,stop_gained,p.Gln848Ter,ENST00000395059,;SRCAP,stop_gained,p.Gln829Ter,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	2927	85	82	SUCCESS
SRCAP	10847	.	GRCh37	16	30734920	30734920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	70	0	ENST00000262518.4:c.4175C>A	p.Ala1392Asp	p.A1392D	ENST00000262518	NM_006662.2	1392	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS10689.2	4175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGCTGCCC	NONE	.	.	hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	.	ENSP00000262518	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Ala1392Asp,ENST00000262518,;SRCAP,missense_variant,p.Ala1234Asp,ENST00000344771,;SRCAP,missense_variant,p.Ala1330Asp,ENST00000395059,;SRCAP,missense_variant,p.Ala1215Asp,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	4560	70	79	SUCCESS
STX1B	112755	.	GRCh37	16	31008338	31008338	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	55	0	ENST00000215095.5:c.397T>A	p.Tyr133Asn	p.Y133N	ENST00000215095	NM_052874.3	133	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS10699.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATATTCGG	NONE	.	.	hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF76,Gene3D:1.20.58.70,SMART_domains:SM00503,Superfamily_domains:SSF47661	.	.	ENSP00000215095	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000215095	Transcript	.	.	ENSG00000099365	18539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	STX1B_HUMAN	STX1B	HGNC	H3BT82_HUMAN	.	UPI0000000C13	SNV	STX1B,missense_variant,p.Tyr49Asn,ENST00000569638,;STX1B,missense_variant,p.Tyr133Asn,ENST00000565419,;STX1B,missense_variant,p.Tyr133Asn,ENST00000215095,;STX1B,non_coding_transcript_exon_variant,,ENST00000566211,;STX1B,downstream_gene_variant,,ENST00000561836,;	629	55	63	SUCCESS
FUS	2521	.	GRCh37	16	31196408	31196408	+	synonymous_variant	Silent	SNP	C	C	T	rs533399799	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	69	0	ENST00000254108.7:c.672C>T	p.Gly224=	p.G224=	ENST00000254108	NM_004960.3	224	ggC/ggT	0	.	T:0.0015	.	T:0	.	T	G	protein_coding	YES	CCDS10707.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCGGCGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF5,hmmpanther:PTHR23238	T:0.001	.	ENSP00000254108	T:0	6/15	.	.	.	.	.	.	.	.	rs533399799	6/15	PASS	ENST00000254108	Transcript	.	T:0.0008	ENSG00000089280	4010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	FUS_HUMAN	FUS	HGNC	Q6IBQ5_HUMAN	.	UPI000012AD9A	SNV	FUS,synonymous_variant,p.%3D,ENST00000380244,;FUS,synonymous_variant,p.%3D,ENST00000254108,;FUS,synonymous_variant,p.%3D,ENST00000568685,;RP11-388M20.6,upstream_gene_variant,,ENST00000564743,;FUS,upstream_gene_variant,,ENST00000474990,;FUS,synonymous_variant,p.%3D,ENST00000566605,;FUS,non_coding_transcript_exon_variant,,ENST00000570090,;FUS,non_coding_transcript_exon_variant,,ENST00000487509,;FUS,upstream_gene_variant,,ENST00000568901,;FUS,upstream_gene_variant,,ENST00000564766,;FUS,downstream_gene_variant,,ENST00000487974,;FUS,downstream_gene_variant,,ENST00000487045,;	777	69	66	SUCCESS
C16orf58	0	.	GRCh37	16	31508226	31508226	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs185844277	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	53	0	ENST00000327237.2:c.646G>A	p.Val216Met	p.V216M	ENST00000327237	NM_022744.3	216	Gtg/Atg	0	T:0.0002	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS10715.1	646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACGGTCA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF04884,hmmpanther:PTHR12770,hmmpanther:PTHR12770:SF22	T:0.002	T:0	ENSP00000317579	T:0	6/13	.	.	.	.	.	.	.	.	rs185844277,COSM970312	6/13	PASS	ENST00000327237	Transcript	.	T:0.0004	ENSG00000140688	25848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.017)	T:0	tolerated(1)	0,1	CP058_HUMAN	C16orf58	HGNC	I3L2V0_HUMAN	.	UPI0000141B4B	SNV	C16orf58,missense_variant,p.Val171Met,ENST00000567994,;C16orf58,missense_variant,p.Val74Met,ENST00000564807,;C16orf58,missense_variant,p.Val216Met,ENST00000327237,;C16orf58,missense_variant,p.Val74Met,ENST00000430477,;C16orf58,missense_variant,p.Val216Met,ENST00000570164,;C16orf58,missense_variant,p.Arg131His,ENST00000565128,;C16orf58,3_prime_UTR_variant,,ENST00000567578,;C16orf58,non_coding_transcript_exon_variant,,ENST00000541442,;C16orf58,non_coding_transcript_exon_variant,,ENST00000567673,;C16orf58,upstream_gene_variant,,ENST00000568491,;C16orf58,downstream_gene_variant,,ENST00000566148,;	686	53	40	SUCCESS
MEFV	4210	.	GRCh37	16	3293875	3293875	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375665850	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	66	200	0	ENST00000219596.1:c.1777G>A	p.Ala593Thr	p.A593T	ENST00000219596	NM_000243.2	593	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10498.1	1777	RADIA|MUTECT|MUSE	.	CTGAGCGCCAA	NONE	byCluster	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103	.	.	ENSP00000219596	.	9/10	.	.	.	.	.	.	.	.	rs375665850	9/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.095)	.	deleterious(0.05)	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,missense_variant,p.Ala593Thr,ENST00000219596,;MEFV,missense_variant,p.Ala382Thr,ENST00000536379,;MEFV,missense_variant,p.Ala413Thr,ENST00000339854,;MEFV,missense_variant,p.Arg440His,ENST00000541159,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000536980,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,3_prime_UTR_variant,,ENST00000542898,;MEFV,3_prime_UTR_variant,,ENST00000572244,;MEFV,3_prime_UTR_variant,,ENST00000537682,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,downstream_gene_variant,,ENST00000539154,;	1817	200	180	SUCCESS
TRAP1	10131	.	GRCh37	16	3712966	3712966	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs549044388	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	15	0	ENST00000246957.5:c.1711G>A	p.Ala571Thr	p.A571T	ENST00000246957	NM_016292.2	571	Gcc/Acc	0	.	T:0.0008	.	T:0	.	T	A/T	protein_coding	YES	CCDS10508.1	1711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCGGCTG	NONE	byFrequency|by1000G	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF24,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583	T:0	.	ENSP00000246957	T:0	15/18	.	.	.	.	.	.	.	.	rs549044388,COSM1230246	15/18	PASS	ENST00000246957	Transcript	.	T:0.0004	ENSG00000126602	16264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	T:0.001	tolerated(0.57)	0,1	TRAP1_HUMAN	TRAP1	HGNC	I3L0P6_HUMAN,I3L0K7_HUMAN	.	UPI000013CC0A	SNV	TRAP1,missense_variant,p.Ala362Thr,ENST00000575671,;TRAP1,missense_variant,p.Ala571Thr,ENST00000246957,;TRAP1,missense_variant,p.Ala518Thr,ENST00000538171,;DNASE1,intron_variant,,ENST00000575479,;DNASE1,intron_variant,,ENST00000414110,;DNASE1,downstream_gene_variant,,ENST00000407479,;DNASE1,downstream_gene_variant,,ENST00000570664,;TRAP1,downstream_gene_variant,,ENST00000576335,;DNASE1,downstream_gene_variant,,ENST00000246949,;DNASE1,downstream_gene_variant,,ENST00000576792,;DNASE1,non_coding_transcript_exon_variant,,ENST00000575152,;TRAP1,downstream_gene_variant,,ENST00000573872,;DNASE1,intron_variant,,ENST00000571460,;TRAP1,upstream_gene_variant,,ENST00000575707,;TRAP1,upstream_gene_variant,,ENST00000574494,;DNASE1,downstream_gene_variant,,ENST00000570807,;DNASE1,downstream_gene_variant,,ENST00000570769,;	1800	15	22	SUCCESS
ZNF500	26048	.	GRCh37	16	4802884	4802885	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs1567520371	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	46	0	ENST00000219478.6:c.935dup	p.Pro313ThrfsTer10	p.P313Tfs*10	ENST00000219478		312	cca/ccCa	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS32383.1	935-936	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGGTGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF53	.	.	ENSP00000219478	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000219478	Transcript	.	.	ENSG00000103199	23716	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN500_HUMAN	ZNF500	HGNC	Q0VAL1_HUMAN,K7ERS9_HUMAN,K7EPZ1_HUMAN,K7EIH1_HUMAN	.	UPI00001C1FB0	insertion	ZNF500,frameshift_variant,p.Pro41ThrfsTer10,ENST00000592425,;ZNF500,frameshift_variant,p.Pro313ThrfsTer10,ENST00000545009,;ZNF500,frameshift_variant,p.Pro313ThrfsTer10,ENST00000219478,;C16orf71,downstream_gene_variant,,ENST00000590191,;C16orf71,downstream_gene_variant,,ENST00000299320,;ZNF500,upstream_gene_variant,,ENST00000588942,;ZNF500,non_coding_transcript_exon_variant,,ENST00000591026,;RP11-127I20.7,upstream_gene_variant,,ENST00000588099,;ZNF500,3_prime_UTR_variant,,ENST00000589422,;C16orf71,downstream_gene_variant,,ENST00000586256,;	1235-1236	46	94	SUCCESS
SALL1	6299	.	GRCh37	16	51173443	51173443	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	47	79	0	ENST00000251020.4:c.2690T>C	p.Val897Ala	p.V897A	ENST00000251020	NM_002968.2	897	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10747.1	2690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGACATCC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.5)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Val897Ala,ENST00000251020,;SALL1,missense_variant,p.Val800Ala,ENST00000570206,;SALL1,missense_variant,p.Val800Ala,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	2724	79	105	SUCCESS
BBS2	583	.	GRCh37	16	56548568	56548568	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1030249829	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	113	322	1	ENST00000245157.5:c.142C>T	p.Arg48Trp	p.R48W	ENST00000245157	NM_031885.3	48	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS32451.1	142	RADIA|VARSCANS	.	GTTCCGTGTAT	NONE	.	.	Superfamily_domains:SSF50978,PIRSF_domain:PIRSF013684,Pfam_domain:PF14781,hmmpanther:PTHR32465,hmmpanther:PTHR32465:SF0	.	.	ENSP00000245157	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000245157	Transcript	.	.	ENSG00000125124	967	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	BBS2_HUMAN	BBS2	HGNC	Q8ND60_HUMAN,J3QLW0_HUMAN	.	UPI0000167B72	SNV	BBS2,missense_variant,p.Arg48Trp,ENST00000568104,;BBS2,missense_variant,p.Arg48Trp,ENST00000245157,;BBS2,5_prime_UTR_variant,,ENST00000569941,;BBS2,non_coding_transcript_exon_variant,,ENST00000566689,;BBS2,non_coding_transcript_exon_variant,,ENST00000565378,;BBS2,upstream_gene_variant,,ENST00000561951,;BBS2,non_coding_transcript_exon_variant,,ENST00000569342,;BBS2,non_coding_transcript_exon_variant,,ENST00000565781,;BBS2,upstream_gene_variant,,ENST00000562012,;BBS2,upstream_gene_variant,,ENST00000565859,;	563	324	280	SUCCESS
CPNE2	221184	.	GRCh37	16	57144691	57144691	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774858426	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	148	0	ENST00000290776.8:c.37G>A	p.Gly13Arg	p.G13R	ENST00000290776	NM_152727.5	13	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10774.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGGGGGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10857:SF3,hmmpanther:PTHR10857	.	.	ENSP00000439018	.	3/17	.	.	.	.	.	.	.	.	rs774858426	3/17	PASS	ENST00000535318	Transcript	.	.	ENSG00000140848	2315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	tolerated(0.06)	.	CPNE2_HUMAN	CPNE2	HGNC	Q719H8_HUMAN,H3BQQ3_HUMAN,H3BPR8_HUMAN	.	UPI000017DA4F	SNV	CPNE2,missense_variant,p.Gly13Arg,ENST00000565874,;CPNE2,missense_variant,p.Gly13Arg,ENST00000535318,;CPNE2,missense_variant,p.Gly13Arg,ENST00000290776,;CPNE2,missense_variant,p.Gly13Arg,ENST00000566259,;CPNE2,5_prime_UTR_variant,,ENST00000537605,;CPNE2,upstream_gene_variant,,ENST00000567487,;	398	148	116	SUCCESS
KIFC3	3801	.	GRCh37	16	57794959	57794959	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	36	0	ENST00000379655.4:c.1997C>T	p.Thr666Ile	p.T666I	ENST00000379655	NM_005550.3	666	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10789.2	1997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGGTGCGG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF337,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000368976	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000379655	Transcript	.	.	ENSG00000140859	6326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0.01)	.	KIFC3_HUMAN	KIFC3	HGNC	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN	.	UPI000059D399	SNV	KIFC3,missense_variant,p.Thr129Ile,ENST00000565270,;KIFC3,missense_variant,p.Thr608Ile,ENST00000539578,;KIFC3,missense_variant,p.Thr524Ile,ENST00000543930,;KIFC3,missense_variant,p.Thr666Ile,ENST00000379655,;KIFC3,missense_variant,p.Thr564Ile,ENST00000540079,;KIFC3,missense_variant,p.Thr527Ile,ENST00000421376,;KIFC3,missense_variant,p.Thr527Ile,ENST00000465878,;KIFC3,missense_variant,p.Thr666Ile,ENST00000445690,;KIFC3,missense_variant,p.Thr688Ile,ENST00000541240,;KIFC3,missense_variant,p.Thr527Ile,ENST00000562903,;KATNB1,downstream_gene_variant,,ENST00000563462,;KIFC3,upstream_gene_variant,,ENST00000565397,;KATNB1,downstream_gene_variant,,ENST00000379661,;KIFC3,downstream_gene_variant,,ENST00000563266,;KIFC3,3_prime_UTR_variant,,ENST00000564136,;KIFC3,intron_variant,,ENST00000565753,;KATNB1,downstream_gene_variant,,ENST00000569018,;KATNB1,downstream_gene_variant,,ENST00000562542,;KATNB1,downstream_gene_variant,,ENST00000566611,;	2255	36	29	SUCCESS
CNGB1	1258	.	GRCh37	16	57918254	57918254	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs769866157	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	59	0	ENST00000251102.8:c.3570del	p.Glu1191SerfsTer33	p.E1191Sfs*33	ENST00000251102	NM_001297.4	1190	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS42169.1	3570	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCTCGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386	.	.	ENSP00000251102	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000251102	Transcript	.	.	ENSG00000070729	2151	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNGB1_HUMAN	CNGB1	HGNC	H3BQC3_HUMAN	.	UPI000013CCDF	deletion	CNGB1,frameshift_variant,p.Glu1185SerfsTer33,ENST00000564448,;CNGB1,frameshift_variant,p.Glu1191SerfsTer33,ENST00000251102,;CNGB1,downstream_gene_variant,,ENST00000565942,;	3631	59	89	SUCCESS
CNGB1	1258	.	GRCh37	16	57937813	57937813	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs924004848	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	64	0	ENST00000251102.8:c.2707T>C	p.Tyr903His	p.Y903H	ENST00000251102	NM_001297.4	903	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS42169.1	2707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTACTTCA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386,Gene3D:3bpzA01,Superfamily_domains:SSF51206	.	.	ENSP00000251102	.	27/33	.	.	.	.	.	.	.	.	.	27/33	PASS	ENST00000251102	Transcript	.	.	ENSG00000070729	2151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	CNGB1_HUMAN	CNGB1	HGNC	H3BQC3_HUMAN	.	UPI000013CCDF	SNV	CNGB1,missense_variant,p.Tyr897His,ENST00000564448,;CNGB1,missense_variant,p.Tyr903His,ENST00000251102,;CNGB1,upstream_gene_variant,,ENST00000565942,;CNGB1,non_coding_transcript_exon_variant,,ENST00000569643,;	2768	64	68	SUCCESS
SLC38A7	55238	.	GRCh37	16	58706066	58706066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	56	236	0	ENST00000219320.4:c.965C>T	p.Ala322Val	p.A322V	ENST00000219320	NM_018231.1	322	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10800.1	965	RADIA|MUTECT|MUSE|VARSCANS	.	CAACGGCCACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF192,Pfam_domain:PF01490	.	.	ENSP00000454646	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.139)	.	tolerated(0.32)	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,missense_variant,p.Ala233Val,ENST00000564010,;SLC38A7,missense_variant,p.Ala322Val,ENST00000219320,;SLC38A7,missense_variant,p.Ala322Val,ENST00000570101,;SLC38A7,intron_variant,,ENST00000564100,;SLC38A7,downstream_gene_variant,,ENST00000570214,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000566953,;SLC38A7,3_prime_UTR_variant,,ENST00000566598,;SLC38A7,3_prime_UTR_variant,,ENST00000565785,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000562149,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000569209,;	1849	236	310	SUCCESS
CAPN15	6650	.	GRCh37	16	599385	599385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	45	0	ENST00000219611.2:c.1756C>T	p.Arg586Trp	p.R586W	ENST00000219611	NM_005632.2	586	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10410.1	1756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCGGCTG	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	.	ENSP00000219611	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000219611	Transcript	.	.	ENSG00000103326	11182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CAN15_HUMAN	CAPN15	HGNC	H3BR03_HUMAN	.	UPI0000071B68	SNV	CAPN15,missense_variant,p.Arg586Trp,ENST00000219611,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,downstream_gene_variant,,ENST00000562370,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	2119	45	49	SUCCESS
B3GNT9	84752	.	GRCh37	16	67184217	67184217	+	synonymous_variant	Silent	SNP	A	A	G	rs1490624380	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	127	0	ENST00000449549.3:c.172T>C	p.Leu58=	p.L58=	ENST00000449549	NM_033309.2	58	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS45509.1	172	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTAACTGGA	NONE	.	.	hmmpanther:PTHR11214:SF91,hmmpanther:PTHR11214	.	.	ENSP00000400157	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000449549	Transcript	.	.	ENSG00000237172	28714	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B3GN9_HUMAN	B3GNT9	HGNC	.	.	UPI000004B630	SNV	B3GNT9,synonymous_variant,p.%3D,ENST00000449549,;TRADD,downstream_gene_variant,,ENST00000486556,;TRADD,downstream_gene_variant,,ENST00000345057,;C16orf70,downstream_gene_variant,,ENST00000569277,;C16orf70,downstream_gene_variant,,ENST00000219139,;C16orf70,downstream_gene_variant,,ENST00000569600,;TRADD,downstream_gene_variant,,ENST00000566247,;	708	127	100	SUCCESS
RLTPR	0	.	GRCh37	16	67683180	67683180	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	56	0	ENST00000334583.6:c.1712A>G	p.His571Arg	p.H571R	ENST00000334583	NM_001013838.1	571	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45513.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCACCGGA	NONE	.	.	hmmpanther:PTHR24112:SF41,hmmpanther:PTHR24112,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000334958	.	19/38	.	.	.	.	.	.	.	.	.	19/38	PASS	ENST00000334583	Transcript	.	.	ENSG00000159753	27089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0)	.	LR16C_HUMAN	RLTPR	HGNC	.	.	UPI00005194F2	SNV	RLTPR,missense_variant,p.His571Arg,ENST00000334583,;RLTPR,missense_variant,p.His535Arg,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,downstream_gene_variant,,ENST00000602467,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,downstream_gene_variant,,ENST00000602742,;	2040	56	46	SUCCESS
RLTPR	0	.	GRCh37	16	67688265	67688265	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	60	126	0	ENST00000334583.6:c.3257del	p.Gly1086AlafsTer32	p.G1086Afs*32	ENST00000334583	NM_001013838.1	1084	gaG/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS45513.1	3252	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTGAGGGGGG	NONE	.	.	hmmpanther:PTHR24112:SF41,hmmpanther:PTHR24112	.	.	ENSP00000334958	.	31/38	.	.	.	.	.	.	.	.	.	31/38	PASS	ENST00000334583	Transcript	.	.	ENSG00000159753	27089	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LR16C_HUMAN	RLTPR	HGNC	.	.	UPI00005194F2	deletion	RLTPR,frameshift_variant,p.Gly1086AlafsTer32,ENST00000334583,;RLTPR,frameshift_variant,p.Gly1050AlafsTer32,ENST00000545661,;ACD,downstream_gene_variant,,ENST00000219251,;ACD,downstream_gene_variant,,ENST00000602850,;ACD,downstream_gene_variant,,ENST00000393919,;ACD,downstream_gene_variant,,ENST00000602320,;ACD,downstream_gene_variant,,ENST00000602382,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602924,;ACD,downstream_gene_variant,,ENST00000602860,;ACD,downstream_gene_variant,,ENST00000602656,;RLTPR,upstream_gene_variant,,ENST00000602368,;ACD,downstream_gene_variant,,ENST00000602945,;RLTPR,upstream_gene_variant,,ENST00000602705,;ACD,downstream_gene_variant,,ENST00000602519,;RLTPR,downstream_gene_variant,,ENST00000602321,;RLTPR,downstream_gene_variant,,ENST00000602931,;ACD,downstream_gene_variant,,ENST00000602622,;RLTPR,downstream_gene_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602562,;	3580	126	182	SUCCESS
RANBP10	57610	.	GRCh37	16	67765413	67765413	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761109146	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	154	0	ENST00000317506.3:c.851C>T	p.Pro284Leu	p.P284L	ENST00000317506	NM_020850.1	284	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32469.1	851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCGGGGTT	NONE	.	.	hmmpanther:PTHR12864,hmmpanther:PTHR12864:SF17,PROSITE_profiles:PS50896	.	.	ENSP00000316589	.	7/14	.	.	.	.	.	.	.	.	rs761109146,COSM558641	7/14	PASS	ENST00000317506	Transcript	.	.	ENSG00000141084	29285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.11)	0,1	RBP10_HUMAN	RANBP10	HGNC	B3KP49_HUMAN	.	UPI00001C1FA6	SNV	RANBP10,missense_variant,p.Pro284Leu,ENST00000317506,;RANBP10,missense_variant,p.Pro55Leu,ENST00000536251,;RANBP10,missense_variant,p.Pro284Leu,ENST00000602677,;RANBP10,missense_variant,p.Pro167Leu,ENST00000411657,;RANBP10,missense_variant,p.Pro228Leu,ENST00000448631,;RANBP10,missense_variant,p.Pro152Leu,ENST00000425512,;RANBP10,downstream_gene_variant,,ENST00000602887,;RANBP10,3_prime_UTR_variant,,ENST00000602506,;RANBP10,3_prime_UTR_variant,,ENST00000602638,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602525,;RANBP10,downstream_gene_variant,,ENST00000602815,;	967	154	107	SUCCESS
RANBP10	57610	.	GRCh37	16	67805940	67805940	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	60	202	0	ENST00000317506.3:c.397C>T	p.Pro133Ser	p.P133S	ENST00000317506	NM_020850.1	133	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32469.1	397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAAGTC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR12864,PROSITE_profiles:PS50188,hmmpanther:PTHR12864:SF17	.	.	ENSP00000316589	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000317506	Transcript	.	.	ENSG00000141084	29285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.515)	.	deleterious(0)	.	RBP10_HUMAN	RANBP10	HGNC	B3KP49_HUMAN	.	UPI00001C1FA6	SNV	RANBP10,missense_variant,p.Pro133Ser,ENST00000317506,;RANBP10,missense_variant,p.Pro133Ser,ENST00000602677,;RANBP10,missense_variant,p.Pro16Ser,ENST00000411657,;RANBP10,missense_variant,p.Pro133Ser,ENST00000448631,;RANBP10,5_prime_UTR_variant,,ENST00000536251,;RANBP10,intron_variant,,ENST00000425512,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602887,;RANBP10,missense_variant,p.Pro133Ser,ENST00000602506,;RANBP10,3_prime_UTR_variant,,ENST00000602815,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602525,;RANBP10,intron_variant,,ENST00000602638,;	513	203	176	SUCCESS
PSKH1	5681	.	GRCh37	16	67943147	67943147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	34	123	0	ENST00000291041.5:c.495G>T	p.Gln165His	p.Q165H	ENST00000291041	NM_006742.2	165	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS10851.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGGAGCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF142,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000291041	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000291041	Transcript	.	.	ENSG00000159792	9529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	deleterious(0.05)	.	KPSH1_HUMAN	PSKH1	HGNC	.	.	UPI000012DFE0	SNV	PSKH1,missense_variant,p.Gln165His,ENST00000291041,;PSKH1,non_coding_transcript_exon_variant,,ENST00000570631,;	665	123	107	SUCCESS
SMPD3	55512	.	GRCh37	16	68404788	68404788	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	108	0	ENST00000219334.5:c.1297G>A	p.Ala433Thr	p.A433T	ENST00000219334	NM_018667.3	433	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10867.1	1297	MUTECT|MUSE	.	AGAGGCCAGGG	NONE	.	.	hmmpanther:PTHR16320:SF5,hmmpanther:PTHR16320,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219	.	.	ENSP00000219334	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000219334	Transcript	.	.	ENSG00000103056	14240	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.7)	.	deleterious(0)	.	NSMA2_HUMAN	SMPD3	HGNC	H3BTM0_HUMAN,D6Q0F1_HUMAN,C8CHW6_HUMAN	.	UPI0000037769	SNV	SMPD3,stop_gained,p.Trp41Ter,ENST00000574662,;SMPD3,missense_variant,p.Ala433Thr,ENST00000563226,;SMPD3,missense_variant,p.Ala433Thr,ENST00000568373,;SMPD3,missense_variant,p.Ala433Thr,ENST00000219334,;SMPD3,downstream_gene_variant,,ENST00000561749,;SMPD3,non_coding_transcript_exon_variant,,ENST00000566009,;SMPD3,non_coding_transcript_exon_variant,,ENST00000566466,;SMPD3,non_coding_transcript_exon_variant,,ENST00000563455,;SMPD3,downstream_gene_variant,,ENST00000566723,;SMPD3,non_coding_transcript_exon_variant,,ENST00000567223,;SMPD3,non_coding_transcript_exon_variant,,ENST00000567811,;	1901	108	91	SUCCESS
TERF2	7014	.	GRCh37	16	69418537	69418537	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	81	0	ENST00000254942.3:c.552A>T	p.Glu184Asp	p.E184D	ENST00000254942	NM_005652.4	184	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	.	426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAATTCCGT	NONE	.	.	hmmpanther:PTHR21717:SF13,hmmpanther:PTHR21717,Pfam_domain:PF08558,Gene3D:1.25.40.210,PIRSF_domain:PIRSF038016,Superfamily_domains:SSF63600	.	.	ENSP00000474453	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000603068	Transcript	.	.	ENSG00000132604	11729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0.01)	.	TERF2_HUMAN	TERF2	HGNC	.	.	UPI0000137364	SNV	TERF2,missense_variant,p.Glu142Asp,ENST00000603068,;TERF2,missense_variant,p.Glu21Asp,ENST00000566257,;TERF2,missense_variant,p.Glu63Asp,ENST00000566750,;TERF2,missense_variant,p.Glu39Asp,ENST00000567841,;TERF2,missense_variant,p.Glu184Asp,ENST00000254942,;TERF2,missense_variant,p.Glu6Asp,ENST00000569542,;TERF2,missense_variant,p.Glu184Asp,ENST00000567296,;TERF2,non_coding_transcript_exon_variant,,ENST00000569611,;TERF2,3_prime_UTR_variant,,ENST00000569280,;	551	81	91	SUCCESS
MTSS1L	0	.	GRCh37	16	70708260	70708260	+	synonymous_variant	Silent	SNP	G	G	A	rs769290285	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	112	0	ENST00000338779.6:c.1002C>T	p.Asp334=	p.D334=	ENST00000338779	NM_138383.2	334	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS32476.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTCCTG	NONE	byFrequency	.	hmmpanther:PTHR15708:SF8,hmmpanther:PTHR15708	.	.	ENSP00000341171	.	11/15	.	.	.	.	.	.	.	.	rs769290285,COSM4062393	11/15	PASS	ENST00000338779	Transcript	.	.	ENSG00000132613	25094	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MTSSL_HUMAN	MTSS1L	HGNC	.	.	UPI00001D627C	SNV	MTSS1L,synonymous_variant,p.%3D,ENST00000338779,;MTSS1L,synonymous_variant,p.%3D,ENST00000562883,;MTSS1L,downstream_gene_variant,,ENST00000576338,;	1277	112	92	SUCCESS
VAC14-AS1	100130894	.	GRCh37	16	70805890	70805890	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	24	0	ENST00000398177.1:n.890T>C		p.*297*	ENST00000398177				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10896.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGTGTCCC	NONE	.	.	.	.	.	ENSP00000261776	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261776	Transcript	.	.	ENSG00000103043	25507	.	.	MODIFIER	10/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAC14_HUMAN	VAC14	HGNC	Q9NTB8_HUMAN,B3KSM8_HUMAN	.	UPI00001A832B	SNV	VAC14,intron_variant,,ENST00000261776,;VAC14-AS1,non_coding_transcript_exon_variant,,ENST00000562507,;VAC14-AS1,non_coding_transcript_exon_variant,,ENST00000398177,;VAC14,intron_variant,,ENST00000568548,;VAC14,intron_variant,,ENST00000568886,;	.	24	35	SUCCESS
ZNF19	7567	.	GRCh37	16	71509598	71509598	+	synonymous_variant	Silent	SNP	A	A	G	rs754537907	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	106	0	ENST00000288177.5:c.852T>C	p.Gly284=	p.G284=	ENST00000288177	NM_006961.3	284	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS10901.1	852	RADIA|MUTECT|MUSE	.	GAATTACCAAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF59,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000288177	.	6/6	.	.	.	.	.	.	.	.	rs754537907	6/6	PASS	ENST00000288177	Transcript	.	.	ENSG00000157429	12981	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF19_HUMAN	ZNF19	HGNC	J3KT56_HUMAN,H3BQI6_HUMAN,H3BQ26_HUMAN,H3BNI0_HUMAN,H3BNH9_HUMAN	.	UPI00001E0590	SNV	ZNF19,synonymous_variant,p.%3D,ENST00000565100,;ZNF19,synonymous_variant,p.%3D,ENST00000564230,;ZNF19,synonymous_variant,p.%3D,ENST00000565637,;ZNF19,synonymous_variant,p.%3D,ENST00000288177,;ZNF19,intron_variant,,ENST00000567225,;ZNF19,downstream_gene_variant,,ENST00000561469,;ZNF19,downstream_gene_variant,,ENST00000564225,;ZNF19,downstream_gene_variant,,ENST00000566202,;ZNF19,downstream_gene_variant,,ENST00000568815,;ZNF19,3_prime_UTR_variant,,ENST00000569717,;AC010547.9,intron_variant,,ENST00000561908,;ZNF19,downstream_gene_variant,,ENST00000562210,;ZNF19,downstream_gene_variant,,ENST00000565541,;	1108	106	97	SUCCESS
PMFBP1	83449	.	GRCh37	16	72157448	72157448	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	78	0	ENST00000237353.10:c.2690A>G	p.Gln897Arg	p.Q897R	ENST00000237353	NM_031293.2	897	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32483.1	2690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTGCTGT	NONE	.	.	hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	.	.	ENSP00000237353	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000237353	Transcript	.	.	ENSG00000118557	17728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	deleterious(0)	.	PMFBP_HUMAN	PMFBP1	HGNC	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN	.	UPI0000141554	SNV	PMFBP1,missense_variant,p.Gln752Arg,ENST00000355636,;PMFBP1,missense_variant,p.Gln897Arg,ENST00000237353,;PMFBP1,missense_variant,p.Gln63Arg,ENST00000537792,;PMFBP1,missense_variant,p.Gln902Arg,ENST00000537465,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,downstream_gene_variant,,ENST00000537392,;	2952	78	89	SUCCESS
ZNRF1	84937	.	GRCh37	16	75033861	75033861	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	87	0	ENST00000335325.4:c.292G>A	p.Ala98Thr	p.A98T	ENST00000335325	NM_032268.4	98	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10912.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATGCCCAT	NONE	.	.	hmmpanther:PTHR22764,hmmpanther:PTHR22764:SF62	.	.	ENSP00000335091	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000335325	Transcript	.	.	ENSG00000186187	18452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.12)	.	ZNRF1_HUMAN	ZNRF1	HGNC	J3KTB9_HUMAN	.	UPI0000037DAA	SNV	ZNRF1,missense_variant,p.Ala98Thr,ENST00000567962,;ZNRF1,missense_variant,p.Ala98Thr,ENST00000320619,;ZNRF1,missense_variant,p.Ala98Thr,ENST00000566250,;ZNRF1,missense_variant,p.Ala98Thr,ENST00000335325,;ZNRF1,upstream_gene_variant,,ENST00000568511,;WDR59,intron_variant,,ENST00000568323,;WDR59,upstream_gene_variant,,ENST00000562331,;ZNRF1,upstream_gene_variant,,ENST00000564320,;	934	87	68	SUCCESS
GAN	8139	.	GRCh37	16	81411036	81411036	+	synonymous_variant	Silent	SNP	C	C	T	rs772065469	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	10	107	0	ENST00000568107.2:c.1629C>T	p.Tyr543=	p.Y543=	ENST00000568107	NM_022041.3	543	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS10935.1	1629	MUTECT|MUSE|VARSCANS	.	GACTACGTGCG	NONE	byFrequency	.	hmmpanther:PTHR24412:SF167,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000476795	.	11/11	.	.	.	.	.	.	.	.	rs772065469	11/11	PASS	ENST00000568107	Transcript	.	.	ENSG00000261609	4137	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GAN_HUMAN	GAN	HGNC	.	.	UPI000000DAB6	SNV	GAN,synonymous_variant,p.%3D,ENST00000568107,;	1791	107	125	SUCCESS
MSLN	10232	.	GRCh37	16	815293	815293	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1304207931	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	53	0	ENST00000382862.3:c.699del	p.Tyr234ThrfsTer78	p.Y234Tfs*78	ENST00000382862	NM_013404.4	232	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS32356.1	694	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGGACCCCCC	NONE	.	.	hmmpanther:PTHR23412:SF6,hmmpanther:PTHR23412,Pfam_domain:PF06060	.	.	ENSP00000372313	.	8/17	.	.	.	.	.	.	.	.	rs773595716	8/17	PASS	ENST00000382862	Transcript	.	.	ENSG00000102854	7371	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSLN_HUMAN	MSLN	HGNC	H3BV92_HUMAN	.	UPI000004EC9C	deletion	MSLN,frameshift_variant,p.Tyr234ThrfsTer78,ENST00000382862,;MSLN,frameshift_variant,p.Tyr234ThrfsTer78,ENST00000566549,;MSLN,frameshift_variant,p.Tyr234ThrfsTer78,ENST00000563941,;MSLN,frameshift_variant,p.Tyr234ThrfsTer78,ENST00000545450,;MSLN,intron_variant,,ENST00000563651,;MSLNL,downstream_gene_variant,,ENST00000442466,;MSLNL,downstream_gene_variant,,ENST00000543963,;MSLN,upstream_gene_variant,,ENST00000566269,;MSLN,downstream_gene_variant,,ENST00000569566,;MSLNL,downstream_gene_variant,,ENST00000293892,;MSLN,upstream_gene_variant,,ENST00000561896,;MIR662,upstream_gene_variant,,ENST00000384847,;	789	53	66	SUCCESS
IL17C	27189	.	GRCh37	16	88705522	88705522	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs773521874	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	36	92	0	ENST00000244241.4:c.146del	p.Pro49HisfsTer16	p.P49Hfs*16	ENST00000244241	NM_013278.3	47	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS42217.1	140	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGGCCCCCC	NONE	byFrequency	.	hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF5	.	.	ENSP00000244241	.	2/3	.	.	.	.	.	.	.	.	rs750700942	2/3	PASS	ENST00000244241	Transcript	.	.	ENSG00000124391	5983	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL17C_HUMAN	IL17C	HGNC	.	.	UPI000003E87C	deletion	IL17C,frameshift_variant,p.Pro49HisfsTer16,ENST00000244241,;CYBA,downstream_gene_variant,,ENST00000565588,;CYBA,downstream_gene_variant,,ENST00000261623,;CYBA,downstream_gene_variant,,ENST00000566229,;IL17C,non_coding_transcript_exon_variant,,ENST00000569133,;CYBA,downstream_gene_variant,,ENST00000566534,;	189	92	138	SUCCESS
CTU2	348180	.	GRCh37	16	88779224	88779224	+	synonymous_variant	Silent	SNP	G	G	A	rs781297466	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	39	119	0	ENST00000453996.2:c.648G>A	p.Pro216=	p.P216=	ENST00000453996	NM_001012759.1	216	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45545.1	648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGCCTGC	NONE	byFrequency	.	HAMAP:MF_03054,hmmpanther:PTHR20882	.	.	ENSP00000388320	.	7/15	.	.	.	.	.	.	.	.	rs781297466	7/15	PASS	ENST00000453996	Transcript	.	.	ENSG00000174177	28005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTU2_HUMAN	CTU2	HGNC	H3BNU5_HUMAN,B4DS10_HUMAN	.	UPI0000251EAE	SNV	CTU2,synonymous_variant,p.%3D,ENST00000312060,;CTU2,synonymous_variant,p.%3D,ENST00000378384,;CTU2,synonymous_variant,p.%3D,ENST00000567949,;CTU2,synonymous_variant,p.%3D,ENST00000453996,;PIEZO1,downstream_gene_variant,,ENST00000518793,;CTU2,downstream_gene_variant,,ENST00000564921,;CTU2,upstream_gene_variant,,ENST00000567316,;PIEZO1,downstream_gene_variant,,ENST00000327397,;PIEZO1,downstream_gene_variant,,ENST00000301015,;PIEZO1,downstream_gene_variant,,ENST00000466823,;MIR4722,downstream_gene_variant,,ENST00000578292,;CTU2,3_prime_UTR_variant,,ENST00000564105,;CTU2,non_coding_transcript_exon_variant,,ENST00000566637,;PIEZO1,downstream_gene_variant,,ENST00000419505,;CTU2,upstream_gene_variant,,ENST00000562011,;PIEZO1,downstream_gene_variant,,ENST00000472168,;CTU2,upstream_gene_variant,,ENST00000564584,;PIEZO1,downstream_gene_variant,,ENST00000484567,;PIEZO1,downstream_gene_variant,,ENST00000521877,;CTU2,downstream_gene_variant,,ENST00000565071,;PIEZO1,downstream_gene_variant,,ENST00000495568,;	716	119	109	SUCCESS
PIEZO1	9780	.	GRCh37	16	88793275	88793275	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769112125	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	47	151	0	ENST00000301015.9:c.3547A>G	p.Ser1183Gly	p.S1183G	ENST00000301015	NM_001142864.2	1183	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS54058.1	3547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTGATGC	NONE	.	.	hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40	.	.	ENSP00000301015	.	25/51	.	.	.	.	.	.	.	.	rs769112125	25/51	PASS	ENST00000301015	Transcript	.	.	ENSG00000103335	28993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	PIEZ1_HUMAN	PIEZO1	HGNC	.	.	UPI0001B300F3	SNV	PIEZO1,missense_variant,p.Ser1183Gly,ENST00000301015,;PIEZO1,upstream_gene_variant,,ENST00000474606,;RP5-1142A6.2,upstream_gene_variant,,ENST00000440406,;PIEZO1,downstream_gene_variant,,ENST00000491917,;PIEZO1,upstream_gene_variant,,ENST00000566414,;PIEZO1,upstream_gene_variant,,ENST00000475586,;	3794	151	158	SUCCESS
ACSF3	197322	.	GRCh37	16	89211764	89211764	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs192339782	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	102	0	ENST00000317447.4:c.1456G>A	p.Ala486Thr	p.A486T	ENST00000317447	NM_174917.3	486	Gcc/Acc	0	A:0	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS10974.1	1456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGCCCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24095:SF52,hmmpanther:PTHR24095,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	A:0.006	A:0.0001	ENSP00000320646	A:0	9/11	.	.	.	.	.	.	.	.	rs192339782	9/11	common_in_exac	ENST00000317447	Transcript	.	A:0.0012	ENSG00000176715	27288	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	A:0	deleterious(0)	.	ACSF3_HUMAN	ACSF3	HGNC	H3BTS0_HUMAN,F5H755_HUMAN,F5H5A1_HUMAN,F5H3B2_HUMAN,F5H362_HUMAN,F5GX20_HUMAN	.	UPI00001AF19E	SNV	ACSF3,missense_variant,p.Ala221Thr,ENST00000378345,;ACSF3,missense_variant,p.Ala221Thr,ENST00000544543,;ACSF3,missense_variant,p.Ala486Thr,ENST00000317447,;ACSF3,missense_variant,p.Ala486Thr,ENST00000406948,;ACSF3,upstream_gene_variant,,ENST00000535176,;ACSF3,non_coding_transcript_exon_variant,,ENST00000537116,;ACSF3,non_coding_transcript_exon_variant,,ENST00000562204,;ACSF3,3_prime_UTR_variant,,ENST00000542688,;ACSF3,non_coding_transcript_exon_variant,,ENST00000537155,;ACSF3,upstream_gene_variant,,ENST00000393145,;	1833	102	96	SUCCESS
ANKRD11	29123	.	GRCh37	16	89348566	89348568	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	rs753054998	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	65	0	ENST00000301030.4:c.4382_4384del	p.Lys1461del	p.K1461del	ENST00000301030	NM_001256183.1	1461	aAGAga/aga	0	-:0	.	.	.	.	-	KR/R	protein_coding	YES	CCDS32513.1	4382-4384	INDELOCATOR|VARSCANI	.	TCTCTCTCTTCTTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24145	.	-:0.0004	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	rs753054998	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	deletion	ANKRD11,inframe_deletion,p.Lys1461del,ENST00000378330,;ANKRD11,inframe_deletion,p.Lys1461del,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	4843-4845	65	59	SUCCESS
VPS9D1	9605	.	GRCh37	16	89783027	89783027	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	92	0	ENST00000389386.3:c.274del	p.Thr92HisfsTer3	p.T92Hfs*3	ENST00000389386	NM_004913.2	92	Aca/ca	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS42220.1	274	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCGTGTTTTCC	NONE	.	.	hmmpanther:PTHR23101:SF25,hmmpanther:PTHR23101,Gene3D:1.20.58.280	.	.	ENSP00000374037	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000389386	Transcript	.	.	ENSG00000075399	13526	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VP9D1_HUMAN	VPS9D1	HGNC	H3BM58_HUMAN	.	UPI00001FF749	deletion	VPS9D1,frameshift_variant,p.Thr92HisfsTer3,ENST00000389386,;VPS9D1,frameshift_variant,p.Thr22HisfsTer3,ENST00000561976,;ZNF276,upstream_gene_variant,,ENST00000446326,;ZNF276,upstream_gene_variant,,ENST00000568064,;ZNF276,upstream_gene_variant,,ENST00000443381,;ZNF276,upstream_gene_variant,,ENST00000289816,;VPS9D1-AS1,non_coding_transcript_exon_variant,,ENST00000562866,;VPS9D1-AS1,non_coding_transcript_exon_variant,,ENST00000562298,;VPS9D1,upstream_gene_variant,,ENST00000565452,;VPS9D1,intron_variant,,ENST00000563798,;ZNF276,upstream_gene_variant,,ENST00000568295,;ZNF276,upstream_gene_variant,,ENST00000563983,;VPS9D1,upstream_gene_variant,,ENST00000567379,;VPS9D1,upstream_gene_variant,,ENST00000568691,;ZNF276,upstream_gene_variant,,ENST00000562530,;	399	92	87	SUCCESS
ZNF276	92822	.	GRCh37	16	89804261	89804261	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149209309	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	6	144	0	ENST00000443381.2:c.1522C>T	p.Arg508Trp	p.R508W	ENST00000443381	NM_001113525.1	508	Cgg/Tgg	0	G:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS45554.1	1522	MUTECT|MUSE	.	AGCAGCGGAAG	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF340,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	G:0	ENSP00000415836	.	10/11	.	.	.	.	.	.	.	.	rs149209309	10/11	PASS	ENST00000443381	Transcript	.	.	ENSG00000158805	23330	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN276_HUMAN	ZNF276	HGNC	.	.	UPI0000EE7D9C	SNV	ZNF276,missense_variant,p.Arg416Trp,ENST00000568064,;ZNF276,missense_variant,p.Arg508Trp,ENST00000443381,;ZNF276,missense_variant,p.Arg294Trp,ENST00000446326,;ZNF276,missense_variant,p.Arg433Trp,ENST00000289816,;FANCA,3_prime_UTR_variant,,ENST00000389301,;FANCA,downstream_gene_variant,,ENST00000561722,;FANCA,downstream_gene_variant,,ENST00000567879,;FANCA,downstream_gene_variant,,ENST00000564475,;FANCA,downstream_gene_variant,,ENST00000568369,;FANCA,downstream_gene_variant,,ENST00000564870,;ZNF276,3_prime_UTR_variant,,ENST00000568295,;ZNF276,3_prime_UTR_variant,,ENST00000562530,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,non_coding_transcript_exon_variant,,ENST00000564004,;ZNF276,non_coding_transcript_exon_variant,,ENST00000561536,;ZNF276,non_coding_transcript_exon_variant,,ENST00000569901,;ZNF276,non_coding_transcript_exon_variant,,ENST00000569582,;FANCA,downstream_gene_variant,,ENST00000564969,;FANCA,downstream_gene_variant,,ENST00000562424,;ZNF276,downstream_gene_variant,,ENST00000563541,;FANCA,downstream_gene_variant,,ENST00000568626,;ZNF276,downstream_gene_variant,,ENST00000569426,;FANCA,downstream_gene_variant,,ENST00000305699,;	1619	144	151	SUCCESS
CENPBD1	92806	.	GRCh37	16	90037950	90037950	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	62	201	0	ENST00000314994.3:c.381C>T	p.Gly127=	p.G127=	ENST00000314994	NM_145039.3	127	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45556.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGCCATG	NONE	.	.	Superfamily_domains:SSF46689,Pfam_domain:PF03221,Gene3D:1.10.10.60,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF14,PROSITE_profiles:PS51253	.	.	ENSP00000393854	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314994	Transcript	.	.	ENSG00000177946	28272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENP1_HUMAN	CENPBD1	HGNC	.	.	UPI00001FF7AC	SNV	CENPBD1,synonymous_variant,p.%3D,ENST00000314994,;DEF8,downstream_gene_variant,,ENST00000563594,;DEF8,downstream_gene_variant,,ENST00000268676,;DEF8,downstream_gene_variant,,ENST00000570182,;RP11-566K11.5,intron_variant,,ENST00000565150,;CENPBD1,intron_variant,,ENST00000567035,;AFG3L1P,upstream_gene_variant,,ENST00000418696,;AFG3L1P,upstream_gene_variant,,ENST00000429663,;AFG3L1P,upstream_gene_variant,,ENST00000457926,;AFG3L1P,upstream_gene_variant,,ENST00000431757,;AFG3L1P,upstream_gene_variant,,ENST00000437774,;AFG3L1P,upstream_gene_variant,,ENST00000436447,;DEF8,downstream_gene_variant,,ENST00000564379,;AFG3L1P,upstream_gene_variant,,ENST00000423742,;AFG3L1P,upstream_gene_variant,,ENST00000421164,;AFG3L1P,upstream_gene_variant,,ENST00000450026,;AFG3L1P,upstream_gene_variant,,ENST00000557444,;	993	201	174	SUCCESS
MYH1	4619	.	GRCh37	17	10404065	10404065	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200591032	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	66	0	ENST00000226207.5:c.3743A>G	p.Asn1248Ser	p.N1248S	ENST00000226207	NM_005963.3	1248	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS11155.1	3743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTTTCCC	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	28/40	.	.	.	.	.	.	.	.	rs200591032	28/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	.	tolerated(0.1)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Asn1248Ser,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3838	66	93	SUCCESS
MYH1	4619	.	GRCh37	17	10408257	10408257	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761774573	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	42	106	0	ENST00000226207.5:c.2561C>T	p.Ala854Val	p.A854V	ENST00000226207	NM_005963.3	854	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11155.1	2561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGCCATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	22/40	.	.	.	.	.	.	.	.	rs761774573	22/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0.02)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Ala854Val,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2656	106	158	SUCCESS
ELAC2	60528	.	GRCh37	17	12906873	12906873	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	54	0	ENST00000338034.4:c.1002T>C	p.Asp334=	p.D334=	ENST00000338034	NM_018127.6	334	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS11164.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCATCTGC	NONE	.	.	hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44,Gene3D:3.60.15.10	.	.	ENSP00000337445	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,synonymous_variant,p.%3D,ENST00000609101,;ELAC2,synonymous_variant,p.%3D,ENST00000426905,;ELAC2,synonymous_variant,p.%3D,ENST00000338034,;ELAC2,synonymous_variant,p.%3D,ENST00000446899,;ELAC2,synonymous_variant,p.%3D,ENST00000395962,;ELAC2,intron_variant,,ENST00000584650,;ELAC2,downstream_gene_variant,,ENST00000580504,;ELAC2,non_coding_transcript_exon_variant,,ENST00000609345,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;ELAC2,non_coding_transcript_exon_variant,,ENST00000480891,;ELAC2,non_coding_transcript_exon_variant,,ENST00000578104,;ELAC2,non_coding_transcript_exon_variant,,ENST00000487229,;ELAC2,upstream_gene_variant,,ENST00000492559,;ELAC2,upstream_gene_variant,,ENST00000578991,;ELAC2,upstream_gene_variant,,ENST00000476042,;ELAC2,upstream_gene_variant,,ENST00000465825,;	1242	54	58	SUCCESS
ELAC2	60528	.	GRCh37	17	12919138	12919138	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	113	0	ENST00000338034.4:c.379A>G	p.Thr127Ala	p.T127A	ENST00000338034	NM_018127.6	127	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11164.1	379	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTAAGAA	NONE	.	.	hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44,Gene3D:3.60.15.10,Superfamily_domains:SSF56281	.	.	ENSP00000337445	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.69)	.	deleterious(0)	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,missense_variant,p.Thr33Ala,ENST00000609101,;ELAC2,missense_variant,p.Thr33Ala,ENST00000580504,;ELAC2,missense_variant,p.Thr127Ala,ENST00000426905,;ELAC2,missense_variant,p.Thr108Ala,ENST00000395962,;ELAC2,missense_variant,p.Thr127Ala,ENST00000578071,;ELAC2,missense_variant,p.Thr33Ala,ENST00000583371,;ELAC2,missense_variant,p.Thr33Ala,ENST00000609757,;ELAC2,missense_variant,p.Thr33Ala,ENST00000581499,;ELAC2,missense_variant,p.Thr127Ala,ENST00000338034,;ELAC2,upstream_gene_variant,,ENST00000584650,;ELAC2,upstream_gene_variant,,ENST00000446899,;ELAC2,non_coding_transcript_exon_variant,,ENST00000609345,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;	619	113	116	SUCCESS
ELAC2	60528	.	GRCh37	17	12921261	12921261	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	66	0	ENST00000338034.4:c.4T>C	p.Trp2Arg	p.W2R	ENST00000338034	NM_018127.6	2	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS11164.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCACATGC	NONE	.	.	.	.	.	ENSP00000337445	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,missense_variant,p.Trp2Arg,ENST00000426905,;ELAC2,missense_variant,p.Trp2Arg,ENST00000395962,;ELAC2,missense_variant,p.Trp2Arg,ENST00000578071,;ELAC2,missense_variant,p.Trp2Arg,ENST00000338034,;ELAC2,intron_variant,,ENST00000583371,;ELAC2,upstream_gene_variant,,ENST00000609101,;ELAC2,upstream_gene_variant,,ENST00000584650,;ELAC2,upstream_gene_variant,,ENST00000580504,;ELAC2,upstream_gene_variant,,ENST00000609757,;ELAC2,upstream_gene_variant,,ENST00000581499,;ELAC2,upstream_gene_variant,,ENST00000609345,;ELAC2,upstream_gene_variant,,ENST00000484122,;	244	66	42	SUCCESS
CDRT1	374286	.	GRCh37	17	15519097	15519097	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	56	161	0	ENST00000395906.3:c.532T>C	p.Cys178Arg	p.C178R	ENST00000395906	NM_006382.3	178	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	.	1462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACACACAT	NONE	.	.	hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7,Gene3D:2.130.10.10	.	.	ENSP00000402644	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000455584	Transcript	.	.	ENSG00000251537	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated_low_confidence(0.17)	.	.	RP11-385D13.1	Clone_based_vega_gene	H0Y626_HUMAN,J3QKY5_HUMAN	.	UPI000268AF94	SNV	RP11-385D13.1,missense_variant,p.Cys488Arg,ENST00000455584,;CDRT1,missense_variant,p.Cys178Arg,ENST00000395906,;CDRT1,upstream_gene_variant,,ENST00000261644,;	1506	161	148	SUCCESS
TRPV2	51393	.	GRCh37	17	16340180	16340180	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150619451	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	73	0	ENST00000338560.7:c.2272G>A	p.Val758Ile	p.V758I	ENST00000338560	NM_016113.4	758	Gtc/Atc	0	A:0.002	A:0.0008	.	A:0	.	A	V/I	protein_coding	YES	CCDS32576.1	2272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGTCCAG	NONE	byCluster|by1000G	.	TIGRFAM_domain:TIGR00870	A:0	A:0.0001	ENSP00000342222	A:0	15/15	.	.	.	.	.	.	.	.	rs150619451	15/15	PASS	ENST00000338560	Transcript	.	A:0.0002	ENSG00000187688	18082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	A:0	tolerated_low_confidence(0.08)	.	TRPV2_HUMAN	TRPV2	HGNC	J3QKR1_HUMAN	.	UPI0000032F4E	SNV	TRPV2,missense_variant,p.Val328Ile,ENST00000577397,;TRPV2,missense_variant,p.Val758Ile,ENST00000338560,;TRPV2,3_prime_UTR_variant,,ENST00000577865,;TRPV2,3_prime_UTR_variant,,ENST00000577277,;TRPV2,3_prime_UTR_variant,,ENST00000581560,;TRPV2,3_prime_UTR_variant,,ENST00000580788,;FAM211A-AS1,upstream_gene_variant,,ENST00000581361,;FAM211A-AS1,upstream_gene_variant,,ENST00000391079,;FAM211A-AS1,upstream_gene_variant,,ENST00000384229,;RP11-138I1.3,downstream_gene_variant,,ENST00000585048,;FAM211A-AS1,upstream_gene_variant,,ENST00000365172,;FAM211A-AS1,upstream_gene_variant,,ENST00000483588,;FAM211A-AS1,upstream_gene_variant,,ENST00000472367,;FAM211A-AS1,upstream_gene_variant,,ENST00000477249,;FAM211A-AS1,upstream_gene_variant,,ENST00000579473,;FAM211A-AS1,upstream_gene_variant,,ENST00000481027,;FAM211A-AS1,upstream_gene_variant,,ENST00000582911,;FAM211A-AS1,upstream_gene_variant,,ENST00000475947,;FAM211A-AS1,upstream_gene_variant,,ENST00000578380,;FAM211A-AS1,upstream_gene_variant,,ENST00000584926,;FAM211A-AS1,upstream_gene_variant,,ENST00000580180,;FAM211A-AS1,upstream_gene_variant,,ENST00000584141,;FAM211A-AS1,upstream_gene_variant,,ENST00000484836,;FAM211A-AS1,upstream_gene_variant,,ENST00000460249,;FAM211A-AS1,upstream_gene_variant,,ENST00000580770,;FAM211A-AS1,upstream_gene_variant,,ENST00000581718,;FAM211A-AS1,upstream_gene_variant,,ENST00000483140,;FAM211A-AS1,upstream_gene_variant,,ENST00000492250,;FAM211A-AS1,upstream_gene_variant,,ENST00000480811,;FAM211A-AS1,upstream_gene_variant,,ENST00000481898,;FAM211A-AS1,upstream_gene_variant,,ENST00000491009,;FAM211A-AS1,upstream_gene_variant,,ENST00000478103,;FAM211A-AS1,upstream_gene_variant,,ENST00000487066,;FAM211A-AS1,upstream_gene_variant,,ENST00000475953,;FAM211A-AS1,upstream_gene_variant,,ENST00000581913,;FAM211A-AS1,upstream_gene_variant,,ENST00000584177,;FAM211A-AS1,upstream_gene_variant,,ENST00000470491,;FAM211A-AS1,upstream_gene_variant,,ENST00000583400,;TRPV2,downstream_gene_variant,,ENST00000583241,;TRPV2,non_coding_transcript_exon_variant,,ENST00000475513,;TRPV2,non_coding_transcript_exon_variant,,ENST00000493434,;FAM211A,downstream_gene_variant,,ENST00000409887,;FAM211A-AS1,upstream_gene_variant,,ENST00000497774,;FAM211A-AS1,upstream_gene_variant,,ENST00000578757,;	2671	73	85	SUCCESS
SREBF1	6720	.	GRCh37	17	17717926	17717926	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs921937534	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	42	0	ENST00000261646.5:c.2735+3G>A		p.X912_splice	ENST00000261646	NM_004176.4	912		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32583.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCACTCA	NONE	.	.	.	.	.	ENSP00000348069	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	LOW	16/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,splice_region_variant,,ENST00000338854,;SREBF1,splice_region_variant,,ENST00000395757,;SREBF1,splice_region_variant,,ENST00000355815,;SREBF1,splice_region_variant,,ENST00000261646,;SREBF1,downstream_gene_variant,,ENST00000423161,;RAI1,downstream_gene_variant,,ENST00000261641,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,upstream_gene_variant,,ENST00000478616,;RAI1,downstream_gene_variant,,ENST00000353383,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,downstream_gene_variant,,ENST00000435530,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;RAI1,downstream_gene_variant,,ENST00000582514,;SREBF1,splice_region_variant,,ENST00000395756,;SREBF1,splice_region_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000581707,;SREBF1,intron_variant,,ENST00000447641,;SREBF1,downstream_gene_variant,,ENST00000490796,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000470247,;	.	42	30	SUCCESS
LLGL1	3996	.	GRCh37	17	18138832	18138832	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1413321606	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	50	0	ENST00000316843.4:c.1333C>T	p.Arg445Ter	p.R445*	ENST00000316843	NM_004140.3	445	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS32586.1	1333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGAGGG	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF21,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00962	.	.	ENSP00000321537	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000316843	Transcript	.	.	ENSG00000131899	6628	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L2GL1_HUMAN	LLGL1	HGNC	A0PJG1_HUMAN	.	UPI000049DE38	SNV	LLGL1,stop_gained,p.Arg445Ter,ENST00000316843,;LLGL1,non_coding_transcript_exon_variant,,ENST00000479155,;	1429	50	74	SUCCESS
MAPK7	5598	.	GRCh37	17	19284128	19284128	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	54	100	0	ENST00000308406.5:c.606T>C	p.Gly202=	p.G202=	ENST00000308406	NM_139033.2	202	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11206.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTATGGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24055:SF7,hmmpanther:PTHR24055,PROSITE_profiles:PS50011	.	.	ENSP00000311005	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,synonymous_variant,p.%3D,ENST00000395602,;MAPK7,synonymous_variant,p.%3D,ENST00000395604,;MAPK7,synonymous_variant,p.%3D,ENST00000308406,;MAPK7,synonymous_variant,p.%3D,ENST00000299612,;MAPK7,synonymous_variant,p.%3D,ENST00000443215,;MAPK7,synonymous_variant,p.%3D,ENST00000482850,;MFAP4,downstream_gene_variant,,ENST00000395592,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,intron_variant,,ENST00000573417,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,3_prime_UTR_variant,,ENST00000581260,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,non_coding_transcript_exon_variant,,ENST00000572716,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572853,;	992	100	118	SUCCESS
C17orf51	0	.	GRCh37	17	21438727	21438727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	61	0	ENST00000391411.5:c.500C>A	p.Ala167Asp	p.A167D	ENST00000391411	NM_001113434.3	167	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS45629.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGCACTT	NONE	.	.	.	.	.	ENSP00000384286	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000391411	Transcript	.	.	ENSG00000212719	27904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.82)	.	deleterious_low_confidence(0)	.	CQ051_HUMAN	C17orf51	HGNC	.	.	UPI00001A832D	SNV	C17orf51,missense_variant,p.Ala167Asp,ENST00000391411,;C17orf51,3_prime_UTR_variant,,ENST00000412778,;RP11-822E23.2,intron_variant,,ENST00000579239,;RP11-822E23.8,non_coding_transcript_exon_variant,,ENST00000426261,;C17orf51,non_coding_transcript_exon_variant,,ENST00000535846,;RP11-822E23.8,non_coding_transcript_exon_variant,,ENST00000468381,;C17orf51,upstream_gene_variant,,ENST00000538604,;	758	61	48	SUCCESS
SRR	63826	.	GRCh37	17	2227123	2227123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	94	0	ENST00000344595.5:c.979A>G	p.Lys327Glu	p.K327E	ENST00000344595	NM_021947.1	327	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11017.1	979	MUTECT|MUSE|VARSCANS	.	GGGTGAAGCAG	NONE	.	.	hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF36	.	.	ENSP00000339435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000344595	Transcript	.	.	ENSG00000167720	14398	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	deleterious(0.02)	.	SRR_HUMAN	SRR	HGNC	Q8N3F4_HUMAN,Q3ZK31_HUMAN,I3L4W4_HUMAN,I3L4L3_HUMAN,I3L3N0_HUMAN	.	UPI00000015D7	SNV	SRR,missense_variant,p.Lys101Glu,ENST00000576848,;SRR,missense_variant,p.Lys327Glu,ENST00000344595,;TSR1,3_prime_UTR_variant,,ENST00000301364,;SRR,downstream_gene_variant,,ENST00000570662,;SRR,downstream_gene_variant,,ENST00000576620,;SRR,downstream_gene_variant,,ENST00000574987,;TSR1,downstream_gene_variant,,ENST00000575049,;	1297	94	62	SUCCESS
NOS2	4843	.	GRCh37	17	26096024	26096024	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	25	0	ENST00000313735.6:c.2013C>A	p.Ser671Arg	p.S671R	ENST00000313735	NM_000625.4	671	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS11223.1	2013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCTGCG	NONE	.	.	PROSITE_profiles:PS50902,hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Pfam_domain:PF00258,Gene3D:3.40.50.360,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218	.	.	ENSP00000327251	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	tolerated(0.18)	.	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,missense_variant,p.Ser671Arg,ENST00000313735,;	2247	25	32	SUCCESS
SLC46A1	113235	.	GRCh37	17	26731651	26731651	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1164744443	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	43	91	0	ENST00000440501.1:c.1064C>T	p.Thr355Met	p.T355M	ENST00000440501	NM_080669.4	355	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	.	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGTGATA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF43,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000395653	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000440501	Transcript	.	.	ENSG00000076351	30521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PCFT_HUMAN	SLC46A1	HGNC	K7EPJ7_HUMAN,J3QRF7_HUMAN,J3KTE6_HUMAN	.	UPI0000050394	SNV	SLC46A1,missense_variant,p.Thr355Met,ENST00000440501,;SLC46A1,missense_variant,p.Thr355Met,ENST00000321666,;SLC46A1,missense_variant,p.Thr64Met,ENST00000582735,;SLC46A1,downstream_gene_variant,,ENST00000581516,;SARM1,downstream_gene_variant,,ENST00000457710,;SLC46A1,downstream_gene_variant,,ENST00000584995,;SLC46A1,downstream_gene_variant,,ENST00000584426,;CTD-2350C19.1,downstream_gene_variant,,ENST00000583956,;CTD-2350C19.2,upstream_gene_variant,,ENST00000580714,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000582345,;	1160	91	93	SUCCESS
SLC46A1	113235	.	GRCh37	17	26732401	26732401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	65	165	0	ENST00000440501.1:c.314G>A	p.Gly105Glu	p.G105E	ENST00000440501	NM_080669.4	105	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	.	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTCCCAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF43,PROSITE_patterns:PS00216,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000395653	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000440501	Transcript	.	.	ENSG00000076351	30521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCFT_HUMAN	SLC46A1	HGNC	K7EPJ7_HUMAN,J3QRF7_HUMAN,J3KTE6_HUMAN	.	UPI0000050394	SNV	SLC46A1,missense_variant,p.Gly31Glu,ENST00000581516,;SLC46A1,missense_variant,p.Gly105Glu,ENST00000440501,;SLC46A1,missense_variant,p.Gly31Glu,ENST00000584995,;SLC46A1,missense_variant,p.Gly105Glu,ENST00000321666,;SLC46A1,missense_variant,p.Gly17Glu,ENST00000584426,;SARM1,downstream_gene_variant,,ENST00000457710,;SLC46A1,upstream_gene_variant,,ENST00000582735,;CTD-2350C19.2,non_coding_transcript_exon_variant,,ENST00000580714,;CTD-2350C19.1,downstream_gene_variant,,ENST00000583956,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SLC46A1,intron_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000582345,;	410	165	166	SUCCESS
KIAA0100	9703	.	GRCh37	17	26966334	26966334	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	rs750057583	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	42	83	0	ENST00000528896.2:c.1228del	p.Arg410GlufsTer56	p.R410Efs*56	ENST00000528896	NM_014680.3	410	Aga/ga	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS32595.1	1228	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGACCTTTTTT	NONE	.	.	hmmpanther:PTHR15678,Pfam_domain:PF10344	.	.	ENSP00000436773	.	11/39	.	.	.	.	.	.	.	.	rs750057583	11/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	deletion	KIAA0100,frameshift_variant,p.Arg267GlufsTer56,ENST00000544884,;KIAA0100,frameshift_variant,p.Arg267GlufsTer56,ENST00000389003,;KIAA0100,frameshift_variant,p.Arg410GlufsTer56,ENST00000528896,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,3_prime_UTR_variant,,ENST00000581267,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,downstream_gene_variant,,ENST00000582901,;KIAA0100,downstream_gene_variant,,ENST00000579253,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000577580,;	1303	83	136	SUCCESS
NEK8	284086	.	GRCh37	17	27061037	27061037	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	84	0	ENST00000268766.6:c.84G>T	p.Lys28Asn	p.K28N	ENST00000268766	NM_178170.2	28	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS32597.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGCTGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF209,hmmpanther:PTHR24362,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000268766	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000268766	Transcript	.	.	ENSG00000160602	13387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.24)	.	NEK8_HUMAN	NEK8	HGNC	K7EPD3_HUMAN,K7END4_HUMAN	.	UPI000004B820	SNV	NEK8,missense_variant,p.Lys28Asn,ENST00000268766,;NEK8,5_prime_UTR_variant,,ENST00000579060,;NEK8,5_prime_UTR_variant,,ENST00000579671,;NEK8,upstream_gene_variant,,ENST00000592510,;AC010761.6,intron_variant,,ENST00000584779,;NEK8,non_coding_transcript_exon_variant,,ENST00000593261,;NEK8,missense_variant,p.Lys28Asn,ENST00000543014,;NEK8,non_coding_transcript_exon_variant,,ENST00000584342,;NEK8,non_coding_transcript_exon_variant,,ENST00000581000,;	118	84	83	SUCCESS
FAM222B	55731	.	GRCh37	17	27086034	27086034	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs112187222	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	79	0	ENST00000452648.3:c.943G>A	p.Val315Ile	p.V315I	ENST00000452648		315	Gtc/Atc	0	T:0.0021	T:0.003	.	T:0	.	T	V/I	protein_coding	YES	CCDS45637.1	943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACGCTGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16070,hmmpanther:PTHR16070:SF1,Pfam_domain:PF15258	T:0	T:0.0001	ENSP00000343115	T:0	3/3	.	.	.	.	.	.	.	.	rs112187222	3/3	PASS	ENST00000341217	Transcript	.	T:0.0008	ENSG00000173065	25563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	T:0	tolerated(0.51)	.	F222B_HUMAN	FAM222B	HGNC	J3QRR9_HUMAN,J3QR32_HUMAN,J3QLP2_HUMAN,J3QKY8_HUMAN,B4DRX9_HUMAN	.	UPI000006F01C	SNV	FAM222B,missense_variant,p.Val315Ile,ENST00000452648,;FAM222B,missense_variant,p.Val315Ile,ENST00000581407,;FAM222B,missense_variant,p.Val315Ile,ENST00000341217,;FAM222B,3_prime_UTR_variant,,ENST00000582266,;FAM222B,downstream_gene_variant,,ENST00000577376,;FAM222B,downstream_gene_variant,,ENST00000577682,;FAM222B,downstream_gene_variant,,ENST00000577513,;FAM222B,downstream_gene_variant,,ENST00000584059,;FAM222B,downstream_gene_variant,,ENST00000581229,;FAM222B,downstream_gene_variant,,ENST00000583522,;FAM222B,downstream_gene_variant,,ENST00000582059,;FAM222B,downstream_gene_variant,,ENST00000583307,;FAM222B,downstream_gene_variant,,ENST00000581381,;FAM222B,downstream_gene_variant,,ENST00000583953,;FAM222B,downstream_gene_variant,,ENST00000579381,;	1159	79	70	SUCCESS
SSH2	85464	.	GRCh37	17	27959374	27959375	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs752567808	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	62	0	ENST00000269033.3:c.2756dup	p.Glu920ArgfsTer22	p.E920Rfs*22	ENST00000269033	NM_033389.2	919	cca/ccCa	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS11253.1	2756-2757	INDELOCATOR|VARSCANI	.	TGTTCTGGGGG	NONE	.	.	hmmpanther:PTHR10159:SF106,hmmpanther:PTHR10159	.	.	ENSP00000269033	.	15/15	.	.	.	.	.	.	.	.	rs781222328	15/15	PASS	ENST00000269033	Transcript	.	.	ENSG00000141298	30580	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSH2_HUMAN	SSH2	HGNC	J3KSQ9_HUMAN	.	UPI00001D6272	insertion	SSH2,frameshift_variant,p.Glu920ArgfsTer22,ENST00000269033,;SSH2,frameshift_variant,p.Glu947ArgfsTer22,ENST00000540801,;SSH2,upstream_gene_variant,,ENST00000577991,;RP11-68I3.2,intron_variant,,ENST00000581474,;	2908-2909	62	64	SUCCESS
EFCAB5	374786	.	GRCh37	17	28419089	28419089	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754404201	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	39	150	0	ENST00000394835.3:c.4138C>T	p.Arg1380Cys	p.R1380C	ENST00000394835	NM_198529.3	1380	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11254.2	4138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGCGTGAC	NONE	byFrequency	.	hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF3	.	.	ENSP00000378312	.	21/23	.	.	.	.	.	.	.	.	rs754404201,COSM705729	21/23	PASS	ENST00000394835	Transcript	.	.	ENSG00000176927	24801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.502)	.	deleterious(0)	0,1	EFCB5_HUMAN	EFCAB5	HGNC	C9J1E6_HUMAN	.	UPI0000E59EF5	SNV	EFCAB5,missense_variant,p.Arg1062Cys,ENST00000419434,;EFCAB5,missense_variant,p.Arg1380Cys,ENST00000394835,;EFCAB5,missense_variant,p.Arg1256Cys,ENST00000320856,;EFCAB5,intron_variant,,ENST00000394832,;EFCAB5,intron_variant,,ENST00000588978,;RP11-1148O4.2,intron_variant,,ENST00000582938,;EFCAB5,non_coding_transcript_exon_variant,,ENST00000582953,;	4330	150	131	SUCCESS
NSRP1	84081	.	GRCh37	17	28512649	28512649	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs572953048	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	51	120	1	ENST00000247026.5:c.1634C>T	p.Ala545Val	p.A545V	ENST00000247026	NM_032141.3	545	gCg/gTg	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS11255.1	1634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCGCGGG	NONE	by1000G	.	hmmpanther:PTHR31938	T:0.001	.	ENSP00000247026	T:0	7/7	.	.	.	.	.	.	.	.	rs572953048	7/7	PASS	ENST00000247026	Transcript	.	T:0.0002	ENSG00000126653	25305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.465)	T:0	deleterious(0.03)	.	NSRP1_HUMAN	NSRP1	HGNC	K7ERM9_HUMAN,K7EMD8_HUMAN,K7EK40_HUMAN	.	UPI000006E653	SNV	NSRP1,missense_variant,p.Ala545Val,ENST00000247026,;NSRP1,downstream_gene_variant,,ENST00000580103,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,downstream_gene_variant,,ENST00000577289,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,downstream_gene_variant,,ENST00000475652,;	1697	121	114	SUCCESS
RAP1GAP2	23108	.	GRCh37	17	2911342	2911342	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773008500	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	40	106	0	ENST00000254695.8:c.1397A>G	p.Asp466Gly	p.D466G	ENST00000254695	NM_015085.4	466	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45573.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGATGAGC	NONE	.	.	hmmpanther:PTHR15711:SF17,hmmpanther:PTHR15711,Superfamily_domains:0043732	.	.	ENSP00000254695	.	17/25	.	.	.	.	.	.	.	.	rs773008500	17/25	PASS	ENST00000254695	Transcript	.	.	ENSG00000132359	29176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.04)	.	RPGP2_HUMAN	RAP1GAP2	HGNC	.	.	UPI0000D622A3	SNV	RAP1GAP2,missense_variant,p.Asp447Gly,ENST00000540393,;RAP1GAP2,missense_variant,p.Asp451Gly,ENST00000366401,;RAP1GAP2,missense_variant,p.Asp466Gly,ENST00000542807,;RAP1GAP2,missense_variant,p.Asp466Gly,ENST00000254695,;RAP1GAP2,non_coding_transcript_exon_variant,,ENST00000574515,;RAP1GAP2,upstream_gene_variant,,ENST00000575979,;	1487	106	49	SUCCESS
SUZ12	23512	.	GRCh37	17	30267438	30267438	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	62	208	0	ENST00000322652.5:c.322-3T>C		p.X108_splice	ENST00000322652	NM_015355.2	108		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11270.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTTTGTAGCCA	NONE	.	.	.	.	.	ENSP00000316578	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322652	Transcript	.	.	ENSG00000178691	17101	.	.	LOW	2/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SUZ12_HUMAN	SUZ12	HGNC	.	.	UPI000006F727	SNV	SUZ12,splice_region_variant,,ENST00000580398,;SUZ12,splice_region_variant,,ENST00000322652,;	.	208	187	SUCCESS
PSMD11	5717	.	GRCh37	17	30806365	30806365	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1302226249	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	130	0	ENST00000261712.3:c.1009C>T	p.Arg337Ter	p.R337*	ENST00000261712	NM_001270482.1	337	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS11272.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCGAGTC	NONE	.	.	hmmpanther:PTHR10678:SF4,hmmpanther:PTHR10678,Pfam_domain:PF01399,Gene3D:1.10.10.10,SMART_domains:SM00088,Superfamily_domains:SSF46785	.	.	ENSP00000261712	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000261712	Transcript	.	.	ENSG00000108671	9556	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD11_HUMAN	PSMD11	HGNC	J3KSW3_HUMAN	.	UPI0000132791	SNV	PSMD11,stop_gained,p.Arg337Ter,ENST00000457654,;PSMD11,stop_gained,p.Arg337Ter,ENST00000261712,;PSMD11,non_coding_transcript_exon_variant,,ENST00000493026,;PSMD11,downstream_gene_variant,,ENST00000584340,;PSMD11,upstream_gene_variant,,ENST00000585265,;PSMD11,upstream_gene_variant,,ENST00000469475,;PSMD11,downstream_gene_variant,,ENST00000578397,;	1272	130	86	SUCCESS
CDK5R1	8851	.	GRCh37	17	30814538	30814538	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	33	0	ENST00000313401.3:c.-101C>T		p.*34*	ENST00000313401	NM_003885.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11273.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCCTCCTCTC	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	SNV	CDK5R1,5_prime_UTR_variant,,ENST00000313401,;CDK5R1,upstream_gene_variant,,ENST00000584792,;PSMD11,downstream_gene_variant,,ENST00000261712,;CDK5R1,upstream_gene_variant,,ENST00000584716,;	589	33	18	SUCCESS
OR1A1	8383	.	GRCh37	17	3119841	3119841	+	synonymous_variant	Silent	SNP	G	G	A	rs142898585	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	70	0	ENST00000304094.1:c.927G>A	p.Ser309=	p.S309=	ENST00000304094	NM_014565.2	309	tcG/tcA	0	A:0	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS11022.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGTAACC	NONE	byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000305207	A:0.001	1/1	.	.	.	.	.	.	.	.	rs142898585	1/1	PASS	ENST00000304094	Transcript	.	A:0.0002	ENSG00000172146	8179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	OR1A1_HUMAN	OR1A1	HGNC	.	.	UPI000013E937	SNV	OR1A1,synonymous_variant,p.%3D,ENST00000304094,;	927	70	26	SUCCESS
CCL13	6357	.	GRCh37	17	32685125	32685125	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs187454526	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	34	96	0	ENST00000225844.2:c.272G>A	p.Arg91Gln	p.R91Q	ENST00000225844	NM_005408.2	91	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS11281.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGAAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF86,Gene3D:2.40.50.40,Superfamily_domains:SSF54117	A:0	.	ENSP00000225844	A:0.001	3/3	.	.	.	.	.	.	.	.	rs187454526	3/3	PASS	ENST00000225844	Transcript	.	A:0.0002	ENSG00000181374	10611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	tolerated(1)	.	CCL13_HUMAN	CCL13	HGNC	.	.	UPI00000339BE	SNV	CCL13,missense_variant,p.Arg56Gln,ENST00000577681,;CCL13,missense_variant,p.Arg91Gln,ENST00000225844,;CCL1,downstream_gene_variant,,ENST00000225842,;	347	96	79	SUCCESS
LIG3	3980	.	GRCh37	17	33325644	33325644	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779188644	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	76	0	ENST00000378526.4:c.2011C>T	p.Arg671Trp	p.R671W	ENST00000378526	NM_013975.3	671	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11284.2	2011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCGGCAC	NONE	byFrequency	.	PROSITE_profiles:PS50160,hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,PROSITE_patterns:PS00333,Pfam_domain:PF01068,Gene3D:3.30.1490.70,TIGRFAM_domain:TIGR00574,Superfamily_domains:SSF56091	.	.	ENSP00000367787	.	14/20	.	.	.	.	.	.	.	.	rs779188644	14/20	PASS	ENST00000378526	Transcript	.	.	ENSG00000005156	6600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DNLI3_HUMAN	LIG3	HGNC	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN	.	UPI0000350B71	SNV	LIG3,missense_variant,p.Arg671Trp,ENST00000378526,;LIG3,missense_variant,p.Arg671Trp,ENST00000262327,;LIG3,downstream_gene_variant,,ENST00000585941,;LIG3,3_prime_UTR_variant,,ENST00000585370,;LIG3,non_coding_transcript_exon_variant,,ENST00000586119,;LIG3,non_coding_transcript_exon_variant,,ENST00000593099,;LIG3,downstream_gene_variant,,ENST00000588713,;LIG3,upstream_gene_variant,,ENST00000592244,;LIG3,downstream_gene_variant,,ENST00000590630,;LIG3,downstream_gene_variant,,ENST00000586058,;	2144	76	79	SUCCESS
LIG3	3980	.	GRCh37	17	33329755	33329755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	82	216	0	ENST00000378526.4:c.2743G>T	p.Val915Leu	p.V915L	ENST00000378526	NM_013975.3	915	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS11284.2	2743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGTGAAA	NONE	.	.	hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11	.	.	ENSP00000367787	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000378526	Transcript	.	.	ENSG00000005156	6600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.54)	.	DNLI3_HUMAN	LIG3	HGNC	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN	.	UPI0000350B71	SNV	LIG3,missense_variant,p.Val915Leu,ENST00000378526,;LIG3,missense_variant,p.Val915Leu,ENST00000262327,;RFFL,downstream_gene_variant,,ENST00000315249,;RP5-837J1.2,upstream_gene_variant,,ENST00000578488,;RP5-837J1.2,upstream_gene_variant,,ENST00000415412,;RFFL,downstream_gene_variant,,ENST00000580569,;LIG3,non_coding_transcript_exon_variant,,ENST00000593099,;LIG3,upstream_gene_variant,,ENST00000592244,;LIG3,downstream_gene_variant,,ENST00000586119,;LIG3,downstream_gene_variant,,ENST00000590630,;LIG3,downstream_gene_variant,,ENST00000585370,;LIG3,downstream_gene_variant,,ENST00000586058,;	2876	216	206	SUCCESS
CCL15	6359	.	GRCh37	17	34324830	34324830	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs551984257	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	6	70	0	ENST00000354059.4:c.315G>A	p.Met105Ile	p.M105I	ENST00000354059	NM_032965.4	105	atG/atA	0	.	T:0	.	T:0	.	T	M/I	protein_coding	YES	CCDS11304.1	315	MUTECT|MUSE	.	TTTTTCATGCA	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF54117,SMART_domains:SM00199,Pfam_domain:PF00048,Gene3D:2.40.50.40,hmmpanther:PTHR12015:SF76,hmmpanther:PTHR12015	T:0	.	ENSP00000293276	T:0	4/4	.	.	.	.	.	.	.	.	rs551984257,COSM3819362	4/4	PASS	ENST00000354059	Transcript	.	T:0.0004	ENSG00000267596	10613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.023)	T:0.002	tolerated(0.43)	0,1	CCL15_HUMAN	CCL15	HGNC	.	.	UPI00001362D7	SNV	CCL15,missense_variant,p.Met53Ile,ENST00000394506,;CCL15,missense_variant,p.Met105Ile,ENST00000354059,;CCL14,5_prime_UTR_variant,,ENST00000536149,;RP11-104J23.1,upstream_gene_variant,,ENST00000590192,;CCL15-CCL14,missense_variant,p.Met105Ile,ENST00000481427,;CCL15-CCL14,missense_variant,p.Met105Ile,ENST00000495214,;	868	70	93	SUCCESS
AATF	26574	.	GRCh37	17	35310201	35310201	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	52	149	0	ENST00000225402.5:c.299A>G	p.Asp100Gly	p.D100G	ENST00000225402	NM_012138.3	100	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS32632.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGATGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15565:SF0,hmmpanther:PTHR15565	.	.	ENSP00000225402	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000225402	Transcript	.	.	ENSG00000108270	19235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0.01)	.	AATF_HUMAN	AATF	HGNC	K7ERC2_HUMAN	.	UPI000006E3DE	SNV	AATF,missense_variant,p.Asp100Gly,ENST00000225402,;AATF,intron_variant,,ENST00000592751,;	550	149	158	SUCCESS
AATF	26574	.	GRCh37	17	35346611	35346611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	84	0	ENST00000225402.5:c.1215A>T	p.Arg405Ser	p.R405S	ENST00000225402	NM_012138.3	405	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS32632.1	1215	RADIA|MUTECT|MUSE	.	GAGAGATTACT	NONE	.	.	hmmpanther:PTHR15565:SF0,hmmpanther:PTHR15565	.	.	ENSP00000225402	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000225402	Transcript	.	.	ENSG00000108270	19235	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	AATF_HUMAN	AATF	HGNC	K7ERC2_HUMAN	.	UPI000006E3DE	SNV	AATF,missense_variant,p.Arg43Ser,ENST00000589579,;AATF,missense_variant,p.Arg405Ser,ENST00000225402,;AATF,upstream_gene_variant,,ENST00000593084,;AATF,downstream_gene_variant,,ENST00000592751,;	1466	84	69	SUCCESS
ACACA	31	.	GRCh37	17	35620662	35620662	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747343847	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	58	116	0	ENST00000353139.5:c.1255C>T	p.Arg419Cys	p.R419C	ENST00000353139	NM_198834.1	419	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42302.1	1255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTTGTA	NONE	.	.	PROSITE_profiles:PS50979,PROSITE_profiles:PS50975,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF02786,Gene3D:3.30.470.20,Superfamily_domains:SSF56059	.	.	ENSP00000344789	.	11/56	.	.	.	.	.	.	.	.	rs747343847,COSM1710172,COSM1710171	11/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1,1	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,missense_variant,p.Arg324Cys,ENST00000360679,;ACACA,missense_variant,p.Arg419Cys,ENST00000353139,;ACACA,missense_variant,p.Arg382Cys,ENST00000394406,;ACACA,missense_variant,p.Arg304Cys,ENST00000335166,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	1737	116	133	SUCCESS
MED1	5469	.	GRCh37	17	37584012	37584012	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	81	0	ENST00000300651.6:c.681T>C	p.Ser227=	p.S227=	ENST00000300651	NM_004774.3	227	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11336.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAGAGAC	NONE	.	.	hmmpanther:PTHR12881,Pfam_domain:PF10744	.	.	ENSP00000300651	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000300651	Transcript	.	.	ENSG00000125686	9234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED1_HUMAN	MED1	HGNC	.	.	UPI0000167F57	SNV	MED1,synonymous_variant,p.%3D,ENST00000300651,;MED1,synonymous_variant,p.%3D,ENST00000394287,;MED1,3_prime_UTR_variant,,ENST00000577831,;MED1,non_coding_transcript_exon_variant,,ENST00000584308,;	905	81	85	SUCCESS
MED24	9862	.	GRCh37	17	38183700	38183700	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	154	0	ENST00000394128.2:c.1466G>A	p.Arg489Gln	p.R489Q	ENST00000394128	NM_014815.3	489	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11359.1	1466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCGGACG	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	16/26	.	.	.	.	.	.	.	.	COSM325794	16/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.993)	.	deleterious(0.01)	1	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.Arg508Gln,ENST00000501516,;MED24,missense_variant,p.Arg439Gln,ENST00000535071,;MED24,missense_variant,p.Arg476Gln,ENST00000356271,;MED24,missense_variant,p.Arg489Gln,ENST00000394128,;MED24,missense_variant,p.Arg514Gln,ENST00000394126,;MED24,missense_variant,p.Arg430Gln,ENST00000580885,;MED24,missense_variant,p.Arg476Gln,ENST00000394127,;MED24,upstream_gene_variant,,ENST00000422942,;SNORD124,downstream_gene_variant,,ENST00000459577,;MED24,3_prime_UTR_variant,,ENST00000578901,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,non_coding_transcript_exon_variant,,ENST00000580921,;MED24,non_coding_transcript_exon_variant,,ENST00000584782,;MED24,intron_variant,,ENST00000581058,;MED24,downstream_gene_variant,,ENST00000584077,;MED24,upstream_gene_variant,,ENST00000492176,;MED24,upstream_gene_variant,,ENST00000580720,;MED24,upstream_gene_variant,,ENST00000495586,;	1548	155	104	SUCCESS
KRT20	54474	.	GRCh37	17	39034421	39034421	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377652428	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	93	0	ENST00000167588.3:c.1115G>A	p.Arg372His	p.R372H	ENST00000167588	NM_019010.2	372	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS11379.1	1115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCGGCGG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,PROSITE_patterns:PS00226,hmmpanther:PTHR23239:SF149,hmmpanther:PTHR23239	.	T:0.0001	ENSP00000167588	.	6/8	.	.	.	.	.	.	.	.	rs377652428	6/8	PASS	ENST00000167588	Transcript	.	.	ENSG00000171431	20412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.04)	.	K1C20_HUMAN	KRT20	HGNC	.	.	UPI000012DAF1	SNV	KRT20,missense_variant,p.Arg372His,ENST00000167588,;KRT20,downstream_gene_variant,,ENST00000482529,;	1157	93	86	SUCCESS
KRT20	54474	.	GRCh37	17	39041125	39041125	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	5	111	0	ENST00000167588.3:c.313T>G	p.Trp105Gly	p.W105G	ENST00000167588	NM_019010.2	105	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS11379.1	313	MUTECT|MUSE	.	GTACCACTGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF149,hmmpanther:PTHR23239	.	.	ENSP00000167588	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000167588	Transcript	.	.	ENSG00000171431	20412	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K1C20_HUMAN	KRT20	HGNC	.	.	UPI000012DAF1	SNV	KRT20,missense_variant,p.Trp105Gly,ENST00000167588,;KRT20,non_coding_transcript_exon_variant,,ENST00000482529,;	355	111	113	SUCCESS
KRT31	3881	.	GRCh37	17	39551555	39551555	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	97	0	ENST00000251645.2:c.818T>A	p.Ile273Asn	p.I273N	ENST00000251645	NM_002277.2	273	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS11391.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGATGATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	.	.	ENSP00000251645	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000251645	Transcript	.	.	ENSG00000094796	6448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.04)	.	K1H1_HUMAN	KRT31	HGNC	Q16275_HUMAN	.	UPI000006F564	SNV	KRT31,missense_variant,p.Ile273Asn,ENST00000251645,;	871	97	98	SUCCESS
NT5C3B	115024	.	GRCh37	17	39983842	39983842	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	43	196	0	ENST00000435506.2:c.604A>G	p.Thr202Ala	p.T202A	ENST00000435506		202	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11410.2	604	RADIA|MUTECT|MUSE	.	GTATGTGTGTA	NONE	.	.	hmmpanther:PTHR13045,hmmpanther:PTHR13045:SF1,Gene3D:3.40.50.1000,Pfam_domain:PF05822,TIGRFAM_domain:TIGR01544,Superfamily_domains:SSF56784	.	.	ENSP00000389948	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000435506	Transcript	.	.	ENSG00000141698	28300	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.588)	.	tolerated(0.14)	.	5NT3B_HUMAN	NT5C3B	HGNC	.	.	UPI0001D04369	SNV	NT5C3B,missense_variant,p.Thr202Ala,ENST00000435506,;NT5C3B,missense_variant,p.Thr172Ala,ENST00000415460,;NT5C3B,missense_variant,p.Thr194Ala,ENST00000269534,;NT5C3B,intron_variant,,ENST00000521789,;FKBP10,downstream_gene_variant,,ENST00000455106,;FKBP10,downstream_gene_variant,,ENST00000544340,;NT5C3B,downstream_gene_variant,,ENST00000486304,;FKBP10,downstream_gene_variant,,ENST00000321562,;NT5C3B,3_prime_UTR_variant,,ENST00000445655,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000469698,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000523903,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000393910,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000470690,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000517701,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000476921,;FKBP10,downstream_gene_variant,,ENST00000489591,;NT5C3B,downstream_gene_variant,,ENST00000475053,;NT5C3B,downstream_gene_variant,,ENST00000495317,;NT5C3B,downstream_gene_variant,,ENST00000460893,;NT5C3B,downstream_gene_variant,,ENST00000481693,;	674	196	158	SUCCESS
DHX58	79132	.	GRCh37	17	40263791	40263791	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	80	0	ENST00000251642.3:c.120G>T	p.Arg40=	p.R40=	ENST00000251642	NM_024119.2	40	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11416.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCCGCTT	NONE	.	.	SMART_domains:SM00487,Pfam_domain:PF04851,Gene3D:3.40.50.300,hmmpanther:PTHR14074:SF7,hmmpanther:PTHR14074,PROSITE_profiles:PS51192	.	.	ENSP00000251642	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000251642	Transcript	.	.	ENSG00000108771	29517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX58_HUMAN	DHX58	HGNC	K7EMZ5_HUMAN,C9JG98_HUMAN,C9JE76_HUMAN	.	UPI000006ED88	SNV	DHX58,synonymous_variant,p.%3D,ENST00000430773,;DHX58,synonymous_variant,p.%3D,ENST00000413196,;DHX58,synonymous_variant,p.%3D,ENST00000251642,;DHX58,intron_variant,,ENST00000591220,;KAT2A,downstream_gene_variant,,ENST00000225916,;DHX58,non_coding_transcript_exon_variant,,ENST00000586522,;KAT2A,downstream_gene_variant,,ENST00000588759,;DHX58,upstream_gene_variant,,ENST00000590637,;KAT2A,downstream_gene_variant,,ENST00000586972,;KAT2A,downstream_gene_variant,,ENST00000592310,;KAT2A,downstream_gene_variant,,ENST00000465682,;	343	80	99	SUCCESS
NAGLU	4669	.	GRCh37	17	40688604	40688604	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	46	126	0	ENST00000225927.2:c.314G>C	p.Gly105Ala	p.G105A	ENST00000225927	NM_000263.3	105	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS11427.1	314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGGCTCTC	NONE	.	.	hmmpanther:PTHR12872,Pfam_domain:PF12971	.	.	ENSP00000225927	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000225927	Transcript	.	.	ENSG00000108784	7632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	tolerated(0.1)	.	ANAG_HUMAN	NAGLU	HGNC	.	.	UPI000013C885	SNV	NAGLU,missense_variant,p.Gly105Ala,ENST00000225927,;NAGLU,synonymous_variant,p.%3D,ENST00000591587,;NAGLU,synonymous_variant,p.%3D,ENST00000586516,;NAGLU,upstream_gene_variant,,ENST00000590358,;NAGLU,upstream_gene_variant,,ENST00000592454,;RP11-400F19.8,non_coding_transcript_exon_variant,,ENST00000585572,;PTP4A2P1,downstream_gene_variant,,ENST00000590314,;	415	126	132	SUCCESS
TUBG2	27175	.	GRCh37	17	40817556	40817556	+	synonymous_variant	Silent	SNP	G	G	A	rs773980344	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	131	0	ENST00000251412.7:c.669G>A	p.Pro223=	p.P223=	ENST00000251412	NM_016437.2	223	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32658.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGTCCTT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF79,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	.	.	ENSP00000251412	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000251412	Transcript	.	.	ENSG00000037042	12419	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBG2_HUMAN	TUBG2	HGNC	.	.	UPI0000136A5C	SNV	TUBG2,synonymous_variant,p.%3D,ENST00000251412,;PLEKHH3,downstream_gene_variant,,ENST00000412503,;PLEKHH3,downstream_gene_variant,,ENST00000591022,;PLEKHH3,downstream_gene_variant,,ENST00000293349,;PLEKHH3,downstream_gene_variant,,ENST00000456950,;TUBG2,non_coding_transcript_exon_variant,,ENST00000588870,;PLEKHH3,downstream_gene_variant,,ENST00000591476,;PLEKHH3,downstream_gene_variant,,ENST00000591196,;TUBG2,downstream_gene_variant,,ENST00000590396,;PLEKHH3,downstream_gene_variant,,ENST00000591490,;	868	131	132	SUCCESS
VPS25	84313	.	GRCh37	17	40928326	40928326	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1265949658	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	48	141	0	ENST00000253794.2:c.406A>G	p.Thr136Ala	p.T136A	ENST00000253794	NM_032353.3	136	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS11438.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACACAGAG	NONE	.	.	Superfamily_domains:SSF46785,Pfam_domain:PF05871,Gene3D:1.10.10.10,hmmpanther:PTHR13149:SF0,hmmpanther:PTHR13149	.	.	ENSP00000253794	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000253794	Transcript	.	.	ENSG00000131475	28122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.289)	.	deleterious(0.05)	.	VPS25_HUMAN	VPS25	HGNC	K7ENE3_HUMAN	.	UPI00000728F2	SNV	VPS25,missense_variant,p.Thr88Ala,ENST00000590339,;VPS25,missense_variant,p.Thr136Ala,ENST00000253794,;VPS25,intron_variant,,ENST00000589520,;WNK4,upstream_gene_variant,,ENST00000246914,;VPS25,3_prime_UTR_variant,,ENST00000589577,;VPS25,downstream_gene_variant,,ENST00000591584,;WNK4,upstream_gene_variant,,ENST00000591448,;VPS25,downstream_gene_variant,,ENST00000589219,;	446	141	135	SUCCESS
MPP3	4356	.	GRCh37	17	41907454	41907454	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762773671	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	33	0	ENST00000398389.4:c.244G>A	p.Ala82Thr	p.A82T	ENST00000398389	NM_001932.4	82	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42344.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGGCCT	NONE	.	.	Superfamily_domains:SSF101288,SMART_domains:SM00569,Pfam_domain:PF02828,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF33,PROSITE_profiles:PS51022	.	.	ENSP00000381425	.	6/20	.	.	.	.	.	.	.	.	rs762773671	6/20	PASS	ENST00000398389	Transcript	.	.	ENSG00000161647	7221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.6)	.	MPP3_HUMAN	MPP3	HGNC	.	.	UPI0000167B23	SNV	MPP3,missense_variant,p.Ala107Thr,ENST00000398393,;MPP3,missense_variant,p.Ala82Thr,ENST00000398389,;MPP3,missense_variant,p.Ala82Thr,ENST00000496503,;MPP3,non_coding_transcript_exon_variant,,ENST00000480958,;MPP3,non_coding_transcript_exon_variant,,ENST00000589375,;	410	33	41	SUCCESS
TMEM101	84336	.	GRCh37	17	42089395	42089395	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	74	0	ENST00000206380.3:c.675G>T	p.Trp225Cys	p.W225C	ENST00000206380	NM_032376.2	225	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS11474.1	675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGCCAGTA	NONE	.	.	hmmpanther:PTHR31034,hmmpanther:PTHR31034:SF1,Pfam_domain:PF15111	.	.	ENSP00000468025	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000589334	Transcript	.	.	ENSG00000091947	28653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	TM101_HUMAN	TMEM101	HGNC	K7ERS4_HUMAN,K7EPU9_HUMAN,K7EM72_HUMAN,B4DFS4_HUMAN	.	UPI000006E158	SNV	TMEM101,missense_variant,p.Trp225Cys,ENST00000589334,;TMEM101,missense_variant,p.Trp167Cys,ENST00000542039,;TMEM101,missense_variant,p.Trp225Cys,ENST00000206380,;TMEM101,downstream_gene_variant,,ENST00000587529,;TMEM101,downstream_gene_variant,,ENST00000590905,;NAGS,downstream_gene_variant,,ENST00000293404,;NAGS,downstream_gene_variant,,ENST00000589767,;TMEM101,downstream_gene_variant,,ENST00000586174,;TMEM101,downstream_gene_variant,,ENST00000592127,;TMEM101,downstream_gene_variant,,ENST00000585950,;NAGS,downstream_gene_variant,,ENST00000592915,;	991	74	81	SUCCESS
HDAC5	10014	.	GRCh37	17	42157801	42157801	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	38	76	0	ENST00000586802.1:c.2793del	p.Ile932LeufsTer14	p.I932Lfs*14	ENST00000586802		931	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS32663.1	2796	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCAATGGGGGG	NONE	.	.	hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF57,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768	.	.	ENSP00000225983	.	22/27	.	.	.	.	.	.	.	.	COSM1383594	22/27	PASS	ENST00000225983	Transcript	.	.	ENSG00000108840	14068	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	HDAC5_HUMAN	HDAC5	HGNC	K7EJZ7_HUMAN,K7EJL6_HUMAN	.	UPI0000508BBA	deletion	HDAC5,frameshift_variant,p.Ile932LeufsTer14,ENST00000393622,;HDAC5,frameshift_variant,p.Ile933LeufsTer14,ENST00000225983,;HDAC5,frameshift_variant,p.Ile932LeufsTer14,ENST00000586802,;HDAC5,frameshift_variant,p.Ile847LeufsTer14,ENST00000336057,;G6PC3,downstream_gene_variant,,ENST00000590253,;G6PC3,downstream_gene_variant,,ENST00000269097,;G6PC3,downstream_gene_variant,,ENST00000591696,;G6PC3,downstream_gene_variant,,ENST00000585361,;HDAC5,downstream_gene_variant,,ENST00000588419,;G6PC3,downstream_gene_variant,,ENST00000588558,;HDAC5,downstream_gene_variant,,ENST00000593013,;G6PC3,downstream_gene_variant,,ENST00000590639,;HDAC5,downstream_gene_variant,,ENST00000592385,;HDAC5,upstream_gene_variant,,ENST00000586339,;	3120	76	115	SUCCESS
HDAC5	10014	.	GRCh37	17	42171119	42171119	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772611618	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	54	110	0	ENST00000586802.1:c.178C>T	p.Arg60Trp	p.R60W	ENST00000586802		60	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS32663.1	181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGTAGCT	NONE	.	.	PIRSF_domain:PIRSF037911	.	.	ENSP00000225983	.	4/27	.	.	.	.	.	.	.	.	rs772611618,COSM979881	4/27	PASS	ENST00000225983	Transcript	.	.	ENSG00000108840	14068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.942)	.	deleterious_low_confidence(0)	0,1	HDAC5_HUMAN	HDAC5	HGNC	K7EJZ7_HUMAN,K7EJL6_HUMAN	.	UPI0000508BBA	SNV	HDAC5,missense_variant,p.Arg60Trp,ENST00000393622,;HDAC5,missense_variant,p.Arg61Trp,ENST00000225983,;HDAC5,missense_variant,p.Arg51Trp,ENST00000588703,;HDAC5,missense_variant,p.Arg60Trp,ENST00000586802,;HDAC5,missense_variant,p.Arg60Trp,ENST00000336057,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,upstream_gene_variant,,ENST00000588261,;HDAC5,upstream_gene_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;	505	110	130	SUCCESS
NMT1	4836	.	GRCh37	17	43171104	43171104	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs955288678	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	59	0	ENST00000258960.2:c.437G>A	p.Arg146His	p.R146H	ENST00000258960	NM_021079.3	146	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11494.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCGCCAGG	NONE	.	.	hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF7,Pfam_domain:PF01233,PIRSF_domain:PIRSF015892,Superfamily_domains:SSF55729	.	.	ENSP00000468424	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000592782	Transcript	.	.	ENSG00000136448	7857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	NMT1_HUMAN	NMT1	HGNC	Q9Y465_HUMAN,Q96HI4_HUMAN,K7EN82_HUMAN	.	UPI0000130275	SNV	NMT1,missense_variant,p.Arg146His,ENST00000592782,;NMT1,missense_variant,p.Arg146His,ENST00000258960,;NMT1,missense_variant,p.Arg66His,ENST00000592654,;NMT1,non_coding_transcript_exon_variant,,ENST00000590114,;NMT1,3_prime_UTR_variant,,ENST00000585561,;NMT1,non_coding_transcript_exon_variant,,ENST00000588455,;NMT1,intron_variant,,ENST00000543908,;NMT1,upstream_gene_variant,,ENST00000590310,;	568	59	67	SUCCESS
KANSL1	284058	.	GRCh37	17	44108889	44108889	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs922454072	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	88	0	ENST00000574590.1:c.3271C>T	p.Arg1091Trp	p.R1091W	ENST00000574590	NM_001193465.1	1091	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11503.1	3271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCGACTCT	BUFFER|p.P1087P|c.3261C>T|4	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443	.	.	ENSP00000262419	.	15/15	.	.	.	.	.	.	.	.	COSM139063	15/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.06)	.	tolerated_low_confidence(0.11)	1	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	SNV	KANSL1,missense_variant,p.Arg385Trp,ENST00000393476,;KANSL1,missense_variant,p.Arg1091Trp,ENST00000574590,;KANSL1,missense_variant,p.Arg1027Trp,ENST00000575318,;KANSL1,missense_variant,p.Arg1091Trp,ENST00000432791,;KANSL1,missense_variant,p.Arg1091Trp,ENST00000262419,;KANSL1,missense_variant,p.Arg1091Trp,ENST00000572904,;MAPT,downstream_gene_variant,,ENST00000340799,;MAPT,downstream_gene_variant,,ENST00000262410,;MAPT,downstream_gene_variant,,ENST00000446361,;MAPT,downstream_gene_variant,,ENST00000535772,;MAPT,downstream_gene_variant,,ENST00000351559,;MAPT,downstream_gene_variant,,ENST00000344290,;MAPT,downstream_gene_variant,,ENST00000347967,;RP11-669E14.6,upstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000574963,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,downstream_gene_variant,,ENST00000576137,;KANSL1,downstream_gene_variant,,ENST00000573682,;	3742	88	80	SUCCESS
ITGB3	3690	.	GRCh37	17	45363766	45363766	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	72	0	ENST00000559488.1:c.755T>C	p.Ile252Thr	p.I252T	ENST00000559488	NM_000212.2	252	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS11511.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATCATGC	NONE	.	.	hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	.	.	ENSP00000452786	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000559488	Transcript	.	.	ENSG00000259207	6156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	deleterious(0)	.	ITB3_HUMAN	ITGB3	HGNC	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN	.	UPI000013D240	SNV	ITGB3,missense_variant,p.Ile205Thr,ENST00000435993,;ITGB3,missense_variant,p.Ile252Thr,ENST00000571680,;ITGB3,missense_variant,p.Ile252Thr,ENST00000559488,;ITGB3,missense_variant,p.Ile241Thr,ENST00000560629,;ITGB3,upstream_gene_variant,,ENST00000573377,;	771	72	79	SUCCESS
OSBPL7	114881	.	GRCh37	17	45895948	45895948	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368110786	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	67	0	ENST00000007414.3:c.404C>T	p.Ala135Val	p.A135V	ENST00000007414	NM_145798.2	135	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS11515.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGCCACC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF15409,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972,PROSITE_profiles:PS50003	.	A:0.0001	ENSP00000007414	.	6/23	.	.	.	.	.	.	.	.	rs368110786	6/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	deleterious(0.02)	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Ala135Val,ENST00000392507,;OSBPL7,missense_variant,p.Ala135Val,ENST00000007414,;MRPL10,downstream_gene_variant,,ENST00000290208,;MRPL10,downstream_gene_variant,,ENST00000414011,;MRPL10,downstream_gene_variant,,ENST00000351111,;OSBPL7,missense_variant,p.Ala135Val,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000580140,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000584698,;OSBPL7,downstream_gene_variant,,ENST00000580226,;OSBPL7,upstream_gene_variant,,ENST00000583167,;OSBPL7,downstream_gene_variant,,ENST00000585051,;OSBPL7,upstream_gene_variant,,ENST00000580808,;	596	67	75	SUCCESS
OSBPL7	114881	.	GRCh37	17	45896429	45896429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748431145	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	99	0	ENST00000007414.3:c.292C>T	p.Arg98Trp	p.R98W	ENST00000007414	NM_145798.2	98	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11515.1	292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGACAT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF15409,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972,PROSITE_profiles:PS50003	.	.	ENSP00000007414	.	5/23	.	.	.	.	.	.	.	.	rs748431145	5/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Arg98Trp,ENST00000392507,;OSBPL7,missense_variant,p.Arg98Trp,ENST00000007414,;MRPL10,downstream_gene_variant,,ENST00000290208,;MRPL10,downstream_gene_variant,,ENST00000414011,;MRPL10,downstream_gene_variant,,ENST00000351111,;OSBPL7,missense_variant,p.Arg98Trp,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000580140,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000584698,;OSBPL7,downstream_gene_variant,,ENST00000580226,;OSBPL7,upstream_gene_variant,,ENST00000583167,;OSBPL7,downstream_gene_variant,,ENST00000585051,;MRPL10,downstream_gene_variant,,ENST00000421763,;OSBPL7,upstream_gene_variant,,ENST00000580808,;	484	99	95	SUCCESS
HOXB7	3217	.	GRCh37	17	46687954	46687954	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	76	186	0	ENST00000239165.7:c.327C>T	p.Gly109=	p.G109=	ENST00000239165	NM_004502.3	109	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS11532.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCGCCCGC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF129	.	.	ENSP00000239165	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239165	Transcript	.	.	ENSG00000260027	5118	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,synonymous_variant,p.%3D,ENST00000239165,;HOXB8,downstream_gene_variant,,ENST00000468443,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB8,downstream_gene_variant,,ENST00000576562,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,intron_variant,,ENST00000567101,;HOXB7,upstream_gene_variant,,ENST00000467314,;	426	186	182	SUCCESS
HOXB13	10481	.	GRCh37	17	46805444	46805444	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	64	106	0	ENST00000290295.7:c.512C>A	p.Ser171Tyr	p.S171Y	ENST00000290295	NM_006361.5	171	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS11536.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAGACTGG	NONE	.	.	hmmpanther:PTHR24326:SF47,hmmpanther:PTHR24326	.	.	ENSP00000290295	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000290295	Transcript	.	.	ENSG00000159184	5112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0)	.	HXB13_HUMAN	HOXB13	HGNC	.	.	UPI000006F288	SNV	HOXB13,missense_variant,p.Ser171Tyr,ENST00000290295,;MIR3185,upstream_gene_variant,,ENST00000583892,;PRAC2,downstream_gene_variant,,ENST00000432056,;PRAC2,downstream_gene_variant,,ENST00000422730,;	1097	106	133	SUCCESS
TM4SF5	9032	.	GRCh37	17	4686302	4686302	+	synonymous_variant	Silent	SNP	T	T	C	rs898295303	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	183	0	ENST00000270560.3:c.549T>C	p.Gly183=	p.G183=	ENST00000270560	NM_003963.2	183	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11054.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGTGTCTT	NONE	.	.	hmmpanther:PTHR14198:SF4,hmmpanther:PTHR14198,Pfam_domain:PF05805	.	.	ENSP00000270560	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000270560	Transcript	.	.	ENSG00000142484	11857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T4S5_HUMAN	TM4SF5	HGNC	.	.	UPI0000152C4B	SNV	TM4SF5,synonymous_variant,p.%3D,ENST00000270560,;VMO1,downstream_gene_variant,,ENST00000441199,;VMO1,downstream_gene_variant,,ENST00000328739,;VMO1,downstream_gene_variant,,ENST00000416307,;VMO1,downstream_gene_variant,,ENST00000354194,;TM4SF5,non_coding_transcript_exon_variant,,ENST00000576530,;	580	183	81	SUCCESS
ZNF652	22834	.	GRCh37	17	47389292	47389292	+	synonymous_variant	Silent	SNP	G	G	A	rs765007844	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	29	115	0	ENST00000362063.2:c.1161C>T	p.Cys387=	p.C387=	ENST00000362063	NM_014897.2	387	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS32677.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGCATCT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24382:SF21,hmmpanther:PTHR24382,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000354686	.	4/6	.	.	.	.	.	.	.	.	rs765007844,COSM1384063	4/6	PASS	ENST00000362063	Transcript	.	.	ENSG00000198740	29147	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZN652_HUMAN	ZNF652	HGNC	.	.	UPI000006D93D	SNV	ZNF652,synonymous_variant,p.%3D,ENST00000362063,;ZNF652,synonymous_variant,p.%3D,ENST00000430262,;ZNF652,synonymous_variant,p.%3D,ENST00000508237,;	1480	115	106	SUCCESS
FAM117A	81558	.	GRCh37	17	47797702	47797702	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199525619	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	44	0	ENST00000240364.2:c.559C>T	p.Arg187Trp	p.R187W	ENST00000240364	NM_030802.3	187	Cgg/Tgg	0	.	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS11553.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGCACTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR14972:SF7,hmmpanther:PTHR14972,Pfam_domain:PF15388	A:0	.	ENSP00000240364	A:0	4/8	.	.	.	.	.	.	.	.	rs199525619	4/8	PASS	ENST00000240364	Transcript	.	A:0.0002	ENSG00000121104	24179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	A:0	tolerated(0.2)	.	F117A_HUMAN	FAM117A	HGNC	B7Z7Q3_HUMAN	.	UPI00000503DC	SNV	FAM117A,missense_variant,p.Arg77Trp,ENST00000511743,;FAM117A,missense_variant,p.Arg187Trp,ENST00000240364,;FAM117A,missense_variant,p.Arg155Trp,ENST00000506156,;FAM117A,5_prime_UTR_variant,,ENST00000513602,;RP11-613C6.2,downstream_gene_variant,,ENST00000512720,;FAM117A,non_coding_transcript_exon_variant,,ENST00000515240,;FAM117A,non_coding_transcript_exon_variant,,ENST00000503855,;FAM117A,non_coding_transcript_exon_variant,,ENST00000509347,;FAM117A,non_coding_transcript_exon_variant,,ENST00000505159,;FAM117A,non_coding_transcript_exon_variant,,ENST00000514018,;FAM117A,downstream_gene_variant,,ENST00000503720,;FAM117A,upstream_gene_variant,,ENST00000503573,;FAM117A,downstream_gene_variant,,ENST00000514841,;	639	44	49	SUCCESS
SAMD14	201191	.	GRCh37	17	48191303	48191303	+	synonymous_variant	Silent	SNP	G	G	A	rs367685385	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	74	141	0	ENST00000330175.4:c.1083C>T	p.Asp361=	p.D361=	ENST00000330175	NM_001257359.1	361	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS11560.1	1167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGTCCAG	NONE	byCluster	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50105,hmmpanther:PTHR16154,Gene3D:1.10.150.50,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	A:0.0001	ENSP00000424474	.	10/11	.	.	.	.	.	.	.	.	rs367685385	10/11	PASS	ENST00000503131	Transcript	.	.	ENSG00000167100	27312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAM14_HUMAN	SAMD14	HGNC	.	.	UPI0000074135	SNV	SAMD14,synonymous_variant,p.%3D,ENST00000503131,;SAMD14,synonymous_variant,p.%3D,ENST00000285206,;SAMD14,synonymous_variant,p.%3D,ENST00000330175,;PDK2,downstream_gene_variant,,ENST00000503176,;PDK2,downstream_gene_variant,,ENST00000007708,;SAMD14,downstream_gene_variant,,ENST00000503734,;SAMD14,non_coding_transcript_exon_variant,,ENST00000508892,;SAMD14,non_coding_transcript_exon_variant,,ENST00000573376,;SAMD14,downstream_gene_variant,,ENST00000515816,;PDK2,downstream_gene_variant,,ENST00000506647,;SAMD14,downstream_gene_variant,,ENST00000507043,;PDK2,downstream_gene_variant,,ENST00000512204,;	1545	141	155	SUCCESS
COL1A1	1277	.	GRCh37	17	48276626	48276626	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs72667016	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	36	261	0	ENST00000225964.5:c.432del	p.Gly145AspfsTer120	p.G145Dfs*120	ENST00000225964	NM_000088.3	144	ccC/cc	0	-:0.0047	.	.	.	.	-	P/X	protein_coding	YES	CCDS11561.1	432	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTCCGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01391	.	-:0.0027	ENSP00000225964	.	5/51	.	.	.	.	.	.	.	.	CD063493,rs72667016	5/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,0	.	.	.	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	deletion	COL1A1,frameshift_variant,p.Gly145AspfsTer120,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000485870,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000463440,;	551	261	278	SUCCESS
EME1	146956	.	GRCh37	17	48452870	48452870	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	67	170	0	ENST00000338165.4:c.301A>G	p.Thr101Ala	p.T101A	ENST00000338165	NM_152463.2	101	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS54141.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTACATGT	NONE	.	.	hmmpanther:PTHR21077:SF3,hmmpanther:PTHR21077	.	.	ENSP00000376952	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000393271	Transcript	.	.	ENSG00000154920	24965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.27)	.	EME1_HUMAN	EME1	HGNC	D6RIT8_HUMAN	.	UPI00001AEAC6	SNV	EME1,missense_variant,p.Thr101Ala,ENST00000393271,;EME1,missense_variant,p.Thr101Ala,ENST00000338165,;EME1,missense_variant,p.Thr101Ala,ENST00000511648,;EME1,missense_variant,p.Thr101Ala,ENST00000511519,;LRRC59,intron_variant,,ENST00000503118,;MRPL27,upstream_gene_variant,,ENST00000225969,;MRPL27,upstream_gene_variant,,ENST00000508200,;MRPL27,upstream_gene_variant,,ENST00000507088,;MRPL27,upstream_gene_variant,,ENST00000511860,;MRPL27,upstream_gene_variant,,ENST00000503633,;MRPL27,upstream_gene_variant,,ENST00000442592,;EME1,upstream_gene_variant,,ENST00000510246,;EME1,missense_variant,p.Thr101Ala,ENST00000511711,;EME1,non_coding_transcript_exon_variant,,ENST00000510007,;MRPL27,upstream_gene_variant,,ENST00000514928,;EME1,upstream_gene_variant,,ENST00000514211,;EME1,upstream_gene_variant,,ENST00000507616,;EME1,upstream_gene_variant,,ENST00000513077,;	383	170	149	SUCCESS
WFIKKN2	124857	.	GRCh37	17	48913245	48913245	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	rs780502559	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	31	111	0	ENST00000311378.4:c.-51del		p.*17*	ENST00000311378	NM_175575.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11575.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGGCCCCAG	NONE	.	.	.	.	.	ENSP00000311184	.	1/2	.	.	.	.	.	.	.	.	rs780502559	1/2	PASS	ENST00000311378	Transcript	.	.	ENSG00000173714	30916	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WFKN2_HUMAN	WFIKKN2	HGNC	C9J6G4_HUMAN	.	UPI000004139B	deletion	WFIKKN2,5_prime_UTR_variant,,ENST00000311378,;WFIKKN2,intron_variant,,ENST00000426127,;RP11-506D12.5,downstream_gene_variant,,ENST00000572491,;	475	111	128	SUCCESS
NME2	4831	.	GRCh37	17	49233116	49233116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765050521	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	30	127	0	ENST00000393193.2:c.101G>A	p.Arg34His	p.R34H	ENST00000393193		34	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11578.1	176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCGCCTTG	NONE	byFrequency	.	Superfamily_domains:SSF54919,SMART_domains:SM00562,Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF59,HAMAP:MF_00451	.	.	ENSP00000337060	.	3/6	.	.	.	.	.	.	.	.	rs765050521	3/6	PASS	ENST00000336097	Transcript	.	.	ENSG00000239672	7849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.09)	.	NDKA_HUMAN	NME1	HGNC	E7ERL0_HUMAN,C9K028_HUMAN	.	UPI000017DA4C	SNV	NME1,missense_variant,p.Arg59His,ENST00000336097,;NME1,missense_variant,p.Arg34His,ENST00000511355,;NME1,missense_variant,p.Arg59His,ENST00000456492,;NME1,missense_variant,p.Arg34His,ENST00000393196,;NME2,missense_variant,p.Arg34His,ENST00000376392,;NME1,missense_variant,p.Arg59His,ENST00000013034,;NME1-NME2,missense_variant,p.Arg59His,ENST00000608447,;NME1,missense_variant,p.Arg59His,ENST00000480143,;NME1-NME2,missense_variant,p.Arg34His,ENST00000393198,;NME2,missense_variant,p.Arg59His,ENST00000555572,;NME2,missense_variant,p.Arg34His,ENST00000393193,;NME1,missense_variant,p.Arg34His,ENST00000475573,;NME1,non_coding_transcript_exon_variant,,ENST00000465188,;NME1,non_coding_transcript_exon_variant,,ENST00000487481,;NME1,non_coding_transcript_exon_variant,,ENST00000512768,;	412	127	131	SUCCESS
MBTD1	54799	.	GRCh37	17	49272711	49272711	+	synonymous_variant	Silent	SNP	G	G	A	rs372985102	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	70	194	1	ENST00000415868.1:c.1236C>T	p.Asp412=	p.D412=	ENST00000415868		412	gaC/gaT	0	A:0	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS11581.2	1236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGTCAGC	BUFFER|p.G249R|c.745G>A|3	byCluster|by1000G	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	A:0	A:0.0001	ENSP00000468304	A:0	13/17	.	.	.	.	.	.	.	.	rs372985102	13/17	PASS	ENST00000586178	Transcript	.	A:0.0002	ENSG00000011258	19866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	MBTD1_HUMAN	MBTD1	HGNC	.	.	UPI00015DE7E3	SNV	MBTD1,synonymous_variant,p.%3D,ENST00000415868,;MBTD1,synonymous_variant,p.%3D,ENST00000586178,;MBTD1,intron_variant,,ENST00000376381,;MBTD1,3_prime_UTR_variant,,ENST00000405860,;MBTD1,intron_variant,,ENST00000591270,;MBTD1,upstream_gene_variant,,ENST00000586898,;	1580	195	187	SUCCESS
PPM1D	8493	.	GRCh37	17	58740416	58740416	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777279856	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	62	141	0	ENST00000305921.3:c.1321C>T	p.Arg441Cys	p.R441C	ENST00000305921	NM_003620.3	441	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11625.1	1321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCGTAGC	NONE	byFrequency	.	.	.	.	ENSP00000306682	.	6/6	.	.	.	.	.	.	.	.	rs777279856,COSM1679984	6/6	PASS	ENST00000305921	Transcript	.	.	ENSG00000170836	9277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	tolerated(0.07)	0,1	PPM1D_HUMAN	PPM1D	HGNC	.	.	UPI0000130FE8	SNV	PPM1D,missense_variant,p.Arg441Cys,ENST00000305921,;RNU6-623P,upstream_gene_variant,,ENST00000363143,;PPM1D,3_prime_UTR_variant,,ENST00000392995,;	1553	141	147	SUCCESS
CD79B	974	.	GRCh37	17	62007735	62007735	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	57	0	ENST00000392795.3:c.132T>C	p.Cys44=	p.C44=	ENST00000392795	NM_001039933.1	44	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS42372.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGAACAAGC	NONE	.	.	hmmpanther:PTHR14334,hmmpanther:PTHR14334:SF2,PROSITE_profiles:PS50835	.	.	ENSP00000376544	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000392795	Transcript	.	.	ENSG00000007312	1699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD79B_HUMAN	CD79B	HGNC	.	.	UPI00001B2490	SNV	CD79B,synonymous_variant,p.%3D,ENST00000006750,;CD79B,synonymous_variant,p.%3D,ENST00000392795,;CD79B,intron_variant,,ENST00000349817,;CD79B,non_coding_transcript_exon_variant,,ENST00000559358,;CD79B,downstream_gene_variant,,ENST00000583260,;CD79B,downstream_gene_variant,,ENST00000558969,;	207	57	73	SUCCESS
BPTF	2186	.	GRCh37	17	65862621	65862621	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	67	165	0	ENST00000321892.4:c.1478A>G	p.Tyr493Cys	p.Y493C	ENST00000321892		493	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11673.1	1478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTATTACA	NONE	.	.	hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Tyr493Cys,ENST00000306378,;BPTF,missense_variant,p.Tyr493Cys,ENST00000321892,;BPTF,missense_variant,p.Tyr493Cys,ENST00000544778,;BPTF,missense_variant,p.Tyr493Cys,ENST00000335221,;BPTF,missense_variant,p.Tyr354Cys,ENST00000424123,;	1538	165	144	SUCCESS
FAM20A	54757	.	GRCh37	17	66537018	66537018	+	synonymous_variant	Silent	SNP	G	G	A	rs748206961	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	86	0	ENST00000592554.1:c.1191C>T	p.Ile397=	p.I397=	ENST00000592554	NM_001243746.1	397	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11679.1	1191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCGATGAC	NONE	byFrequency	.	Pfam_domain:PF06702,hmmpanther:PTHR12450:SF12,hmmpanther:PTHR12450	.	.	ENSP00000468308	.	8/11	.	.	.	.	.	.	.	.	rs748206961	8/11	PASS	ENST00000592554	Transcript	.	.	ENSG00000108950	23015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA20A_HUMAN	FAM20A	HGNC	L8B8N7_HUMAN	.	UPI00001AE65B	SNV	FAM20A,synonymous_variant,p.%3D,ENST00000592554,;PRKAR1A,intron_variant,,ENST00000588188,;AC079210.1,upstream_gene_variant,,ENST00000600820,;FAM20A,non_coding_transcript_exon_variant,,ENST00000226094,;FAM20A,downstream_gene_variant,,ENST00000592847,;FAM20A,3_prime_UTR_variant,,ENST00000590074,;FAM20A,non_coding_transcript_exon_variant,,ENST00000375556,;FAM20A,intron_variant,,ENST00000590873,;	1914	87	95	SUCCESS
ABCA9	10350	.	GRCh37	17	66972304	66972304	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	53	183	0	ENST00000340001.4:c.4748A>G	p.Tyr1583Cys	p.Y1583C	ENST00000340001	NM_080283.3	1583	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11681.1	4748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTACTCC	NONE	.	.	hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	.	.	ENSP00000342216	.	38/39	.	.	.	.	.	.	.	.	.	38/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,missense_variant,p.Tyr1545Cys,ENST00000453985,;ABCA9,missense_variant,p.Tyr1583Cys,ENST00000340001,;ABCA9,3_prime_UTR_variant,,ENST00000370732,;	4960	183	199	SUCCESS
ABCA9	10350	.	GRCh37	17	66980300	66980300	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	92	0	ENST00000340001.4:c.4396A>C	p.Thr1466Pro	p.T1466P	ENST00000340001	NM_080283.3	1466	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS11681.1	4396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTGGCCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	.	ENSP00000342216	.	35/39	.	.	.	.	.	.	.	.	.	35/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.541)	.	deleterious(0.01)	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,missense_variant,p.His1434Pro,ENST00000370732,;ABCA9,missense_variant,p.Thr1428Pro,ENST00000453985,;ABCA9,missense_variant,p.Thr1466Pro,ENST00000340001,;ABCA9,downstream_gene_variant,,ENST00000482072,;	4608	92	82	SUCCESS
COG1	9382	.	GRCh37	17	71189436	71189436	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	527	22	988	13	ENST00000299886.4:c.228A>G	p.Leu76=	p.L76=	ENST00000299886	NM_018714.2	76	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11692.1	228	MUTECT|MUSE	.	GGGCTAGTGGA	NONE	.	.	hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0,Pfam_domain:PF08700	.	.	ENSP00000299886	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000299886	Transcript	.	.	ENSG00000166685	6545	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COG1_HUMAN	COG1	HGNC	J3KSY3_HUMAN	.	UPI0000127E34	SNV	COG1,synonymous_variant,p.%3D,ENST00000438720,;COG1,synonymous_variant,p.%3D,ENST00000299886,;RP11-143K11.5,intron_variant,,ENST00000580671,;COG1,synonymous_variant,p.%3D,ENST00000582587,;	308	1001	549	SUCCESS
DVL2	1856	.	GRCh37	17	7130768	7130768	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372746877	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	36	94	0	ENST00000005340.5:c.1318C>T	p.Arg440Trp	p.R440W	ENST00000005340	NM_004422.2	440	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS11091.1	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGGACTT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF46785,SMART_domains:SM00049,Gene3D:1.10.10.10,Pfam_domain:PF00610,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,PROSITE_profiles:PS50186	.	A:0.0001	ENSP00000005340	.	12/15	.	.	.	.	.	.	.	.	rs372746877	12/15	PASS	ENST00000005340	Transcript	.	.	ENSG00000004975	3086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DVL2_HUMAN	DVL2	HGNC	B4E2D6_HUMAN	.	UPI0000000DE9	SNV	DVL2,missense_variant,p.Arg434Trp,ENST00000575458,;DVL2,missense_variant,p.Arg94Trp,ENST00000575086,;DVL2,missense_variant,p.Arg440Trp,ENST00000005340,;ACADVL,downstream_gene_variant,,ENST00000542255,;ACADVL,downstream_gene_variant,,ENST00000579546,;DVL2,downstream_gene_variant,,ENST00000575756,;ACADVL,downstream_gene_variant,,ENST00000356839,;ACADVL,downstream_gene_variant,,ENST00000543245,;ACADVL,downstream_gene_variant,,ENST00000350303,;DVL2,downstream_gene_variant,,ENST00000574143,;MIR324,upstream_gene_variant,,ENST00000362183,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;DVL2,non_coding_transcript_exon_variant,,ENST00000576840,;DVL2,non_coding_transcript_exon_variant,,ENST00000571745,;DVL2,non_coding_transcript_exon_variant,,ENST00000576285,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000322910,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582379,;DVL2,downstream_gene_variant,,ENST00000576949,;ACADVL,downstream_gene_variant,,ENST00000577191,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,downstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000585203,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000576439,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000578809,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000582450,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000583858,;ACADVL,downstream_gene_variant,,ENST00000583850,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000578579,;ACADVL,downstream_gene_variant,,ENST00000581378,;	1601	94	48	SUCCESS
NXN	64359	.	GRCh37	17	726873	726874	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	125	0	ENST00000336868.3:c.610dup	p.Trp204LeufsTer32	p.W204Lfs*32	ENST00000336868	NM_022463.4	204	tgg/tTgg	0	.	.	.	.	.	A	W/LX	protein_coding	YES	CCDS10998.1	610-611	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACCCAATGT	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR13871,Gene3D:3.40.30.10,Pfam_domain:PF13905,Superfamily_domains:SSF52833	.	.	ENSP00000337443	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000336868	Transcript	.	.	ENSG00000167693	18008	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NXN_HUMAN	NXN	HGNC	.	.	UPI00001B31EB	insertion	NXN,frameshift_variant,p.Trp96LeufsTer32,ENST00000575801,;NXN,frameshift_variant,p.Trp59LeufsTer32,ENST00000571684,;NXN,frameshift_variant,p.Trp204LeufsTer32,ENST00000336868,;NXN,splice_region_variant,,ENST00000537628,;NXN,upstream_gene_variant,,ENST00000538650,;NXN,downstream_gene_variant,,ENST00000571338,;NXN,downstream_gene_variant,,ENST00000577098,;NXN,splice_region_variant,,ENST00000575455,;NXN,downstream_gene_variant,,ENST00000575171,;	702-703	125	108	SUCCESS
GRIN2C	2905	.	GRCh37	17	72840513	72840513	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	125	0	ENST00000293190.5:c.2485G>A	p.Ala829Thr	p.A829T	ENST00000293190	NM_000835.4	829	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32724.1	2485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR18966:SF179,hmmpanther:PTHR18966,Prints_domain:PR00177	.	.	ENSP00000293190	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000293190	Transcript	.	.	ENSG00000161509	4587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	tolerated(0.05)	.	NMDE3_HUMAN	GRIN2C	HGNC	.	.	UPI00001AEBA4	SNV	GRIN2C,missense_variant,p.Ala829Thr,ENST00000347612,;GRIN2C,missense_variant,p.Ala829Thr,ENST00000293190,;TMEM104,downstream_gene_variant,,ENST00000582330,;TMEM104,downstream_gene_variant,,ENST00000582773,;TMEM104,downstream_gene_variant,,ENST00000335464,;TMEM104,downstream_gene_variant,,ENST00000417024,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;	2632	125	120	SUCCESS
ICT1	0	.	GRCh37	17	73008822	73008822	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	86	0	ENST00000301585.5:c.42del	p.Gly15GlufsTer60	p.G15Efs*60	ENST00000301585	NM_001545.1	14	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS11711.1	41	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCGAGCCGGAG	NONE	.	.	hmmpanther:PTHR11075	.	.	ENSP00000301585	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000301585	Transcript	.	.	ENSG00000167862	5359	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ICT1_HUMAN	ICT1	HGNC	.	.	UPI0000000DF2	deletion	ICT1,frameshift_variant,p.Gly15GlufsTer60,ENST00000301585,;ICT1,frameshift_variant,p.Gly15GlufsTer60,ENST00000584208,;ICT1,upstream_gene_variant,,ENST00000580800,;	54	86	94	SUCCESS
KIAA0195	0	.	GRCh37	17	73490855	73490855	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	42	110	0	ENST00000314256.7:c.2555T>C	p.Val852Ala	p.V852A	ENST00000314256	NM_014738.4	852	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32732.1	2555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTCTACT	NONE	.	.	hmmpanther:PTHR13219:SF6,hmmpanther:PTHR13219	.	.	ENSP00000313885	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000314256	Transcript	.	.	ENSG00000177728	28983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	K0195_HUMAN	KIAA0195	HGNC	J3QS17_HUMAN,J3QRT3_HUMAN,J3QLM7_HUMAN,J3KT63_HUMAN,J3KRU7_HUMAN	.	UPI0000139439	SNV	KIAA0195,missense_variant,p.Val503Ala,ENST00000579208,;KIAA0195,missense_variant,p.Val852Ala,ENST00000314256,;KIAA0195,missense_variant,p.Val862Ala,ENST00000375248,;KIAA0195,downstream_gene_variant,,ENST00000580918,;KIAA0195,downstream_gene_variant,,ENST00000578853,;KIAA0195,upstream_gene_variant,,ENST00000577245,;KIAA0195,upstream_gene_variant,,ENST00000577247,;KIAA0195,downstream_gene_variant,,ENST00000581252,;KIAA0195,upstream_gene_variant,,ENST00000584694,;AC100787.1,upstream_gene_variant,,ENST00000579379,;KIAA0195,downstream_gene_variant,,ENST00000583795,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000585105,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000581085,;KIAA0195,downstream_gene_variant,,ENST00000580849,;KIAA0195,upstream_gene_variant,,ENST00000579898,;KIAA0195,downstream_gene_variant,,ENST00000583071,;KIAA0195,downstream_gene_variant,,ENST00000583296,;KIAA0195,downstream_gene_variant,,ENST00000579241,;KIAA0195,upstream_gene_variant,,ENST00000581453,;KIAA0195,upstream_gene_variant,,ENST00000581723,;KIAA0195,downstream_gene_variant,,ENST00000580441,;KIAA0195,upstream_gene_variant,,ENST00000581867,;KIAA0195,downstream_gene_variant,,ENST00000578624,;KIAA0195,upstream_gene_variant,,ENST00000577194,;KIAA0195,downstream_gene_variant,,ENST00000582843,;	2949	110	120	SUCCESS
GALK1	2584	.	GRCh37	17	73754367	73754367	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371517491	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	84	0	ENST00000225614.2:c.1031C>T	p.Thr344Met	p.T344M	ENST00000225614		344	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS11728.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGTCATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10457:SF6,hmmpanther:PTHR10457,TIGRFAM_domain:TIGR00131,Gene3D:3.30.70.890,Pfam_domain:PF08544,PIRSF_domain:PIRSF000530,Superfamily_domains:SSF55060,Prints_domain:PR00959	.	A:0.0001	ENSP00000465930	.	7/8	.	.	.	.	.	.	.	.	rs371517491,CM993835	7/8	PASS	ENST00000588479	Transcript	.	.	ENSG00000108479	4118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	GALK1_HUMAN	GALK1	HGNC	Q71UH7_HUMAN,C8CHJ6_HUMAN	.	UPI000012B056	SNV	GALK1,missense_variant,p.Thr374Met,ENST00000437911,;GALK1,missense_variant,p.Thr344Met,ENST00000588479,;GALK1,missense_variant,p.Thr136Met,ENST00000592997,;GALK1,missense_variant,p.Thr344Met,ENST00000225614,;ITGB4,downstream_gene_variant,,ENST00000579662,;ITGB4,downstream_gene_variant,,ENST00000450894,;ITGB4,downstream_gene_variant,,ENST00000339591,;ITGB4,downstream_gene_variant,,ENST00000578318,;ITGB4,downstream_gene_variant,,ENST00000449880,;ITGB4,downstream_gene_variant,,ENST00000583327,;ITGB4,downstream_gene_variant,,ENST00000582629,;ITGB4,downstream_gene_variant,,ENST00000584939,;ITGB4,downstream_gene_variant,,ENST00000200181,;GALK1,non_coding_transcript_exon_variant,,ENST00000586733,;GALK1,intron_variant,,ENST00000589643,;GALK1,downstream_gene_variant,,ENST00000586244,;GALK1,downstream_gene_variant,,ENST00000592494,;ITGB4,downstream_gene_variant,,ENST00000579211,;GALK1,downstream_gene_variant,,ENST00000587707,;	1606	84	86	SUCCESS
TRIM65	201292	.	GRCh37	17	73893020	73893020	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	38	0	ENST00000269383.3:c.-2C>T		p.*1*	ENST00000269383	NM_173547.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11732.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGCCCGG	NONE	.	.	.	.	.	ENSP00000269383	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000269383	Transcript	.	.	ENSG00000141569	27316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI65_HUMAN	TRIM65	HGNC	.	.	UPI000015FC8E	SNV	TRIM65,5_prime_UTR_variant,,ENST00000269383,;TRIM65,upstream_gene_variant,,ENST00000591668,;TRIM65,upstream_gene_variant,,ENST00000592642,;MRPL38,downstream_gene_variant,,ENST00000409963,;TRIM65,upstream_gene_variant,,ENST00000543309,;MRPL38,downstream_gene_variant,,ENST00000309352,;TRIM65,upstream_gene_variant,,ENST00000540128,;RP11-552F3.10,upstream_gene_variant,,ENST00000587267,;MRPL38,downstream_gene_variant,,ENST00000477023,;MRPL38,downstream_gene_variant,,ENST00000585475,;MRPL38,downstream_gene_variant,,ENST00000480203,;MRPL38,downstream_gene_variant,,ENST00000588620,;MRPL38,downstream_gene_variant,,ENST00000464758,;MRPL38,downstream_gene_variant,,ENST00000486101,;MRPL38,downstream_gene_variant,,ENST00000471434,;MRPL38,downstream_gene_variant,,ENST00000461602,;RP11-552F3.12,downstream_gene_variant,,ENST00000593156,;RP11-552F3.12,downstream_gene_variant,,ENST00000590947,;MRPL38,downstream_gene_variant,,ENST00000477371,;MRPL38,downstream_gene_variant,,ENST00000493383,;MRPL38,downstream_gene_variant,,ENST00000493104,;TRIM65,upstream_gene_variant,,ENST00000540812,;MRPL38,downstream_gene_variant,,ENST00000483393,;MRPL38,downstream_gene_variant,,ENST00000494179,;MRPL38,downstream_gene_variant,,ENST00000474548,;MRPL38,downstream_gene_variant,,ENST00000477736,;	65	38	37	SUCCESS
FBF1	85302	.	GRCh37	17	73910972	73910972	+	synonymous_variant	Silent	SNP	G	G	A	rs750531702	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	72	0	ENST00000586717.1:c.2628C>T	p.Cys876=	p.C876=	ENST00000586717		876	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS45779.1	2625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGCACTT	NONE	.	.	.	.	.	ENSP00000324292	.	24/29	.	.	.	.	.	.	.	.	rs750531702	24/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,synonymous_variant,p.%3D,ENST00000319129,;FBF1,synonymous_variant,p.%3D,ENST00000592193,;FBF1,synonymous_variant,p.%3D,ENST00000389570,;FBF1,synonymous_variant,p.%3D,ENST00000586717,;FBF1,upstream_gene_variant,,ENST00000590264,;FBF1,synonymous_variant,p.%3D,ENST00000588283,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,non_coding_transcript_exon_variant,,ENST00000593076,;RP11-552F3.12,upstream_gene_variant,,ENST00000587556,;FBF1,upstream_gene_variant,,ENST00000586112,;	2899	72	74	SUCCESS
GALR2	8811	.	GRCh37	17	74072920	74072920	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs534747980	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	49	0	ENST00000329003.3:c.572C>A	p.Thr191Asn	p.T191N	ENST00000329003	NM_003857.2	191	aCc/aAc	0	.	T:0.0008	.	T:0	.	A	T/N	protein_coding	YES	CCDS11739.1	572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACCTTCG	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF13,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00663	T:0	.	ENSP00000329684	T:0	2/2	.	.	.	.	.	.	.	.	rs534747980	2/2	PASS	ENST00000329003	Transcript	.	T:0.0002	ENSG00000182687	4133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	T:0	deleterious(0)	.	GALR2_HUMAN	GALR2	HGNC	.	.	UPI000004B247	SNV	GALR2,missense_variant,p.Thr191Asn,ENST00000329003,;ZACN,upstream_gene_variant,,ENST00000392503,;EXOC7,downstream_gene_variant,,ENST00000589210,;SRP68,upstream_gene_variant,,ENST00000307877,;SRP68,upstream_gene_variant,,ENST00000539137,;EXOC7,downstream_gene_variant,,ENST00000332065,;ZACN,upstream_gene_variant,,ENST00000334586,;SRP68,upstream_gene_variant,,ENST00000355113,;EXOC7,downstream_gene_variant,,ENST00000607838,;EXOC7,downstream_gene_variant,,ENST00000591724,;ZACN,intron_variant,,ENST00000591500,;SRP68,upstream_gene_variant,,ENST00000592704,;EXOC7,downstream_gene_variant,,ENST00000465252,;ZACN,upstream_gene_variant,,ENST00000421794,;SRP68,upstream_gene_variant,,ENST00000591272,;ZACN,upstream_gene_variant,,ENST00000590045,;ZACN,upstream_gene_variant,,ENST00000524242,;ZACN,upstream_gene_variant,,ENST00000425015,;	662	49	50	SUCCESS
TP53	7157	.	GRCh37	17	7578275	7578277	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-	rs1555525902	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	GAG	GAG	.	.	.	.	.	.	.	.	.	.	.	.	.	22	51	215	0	ENST00000269305.4:c.572_574del	p.Pro191del	p.P191del	ENST00000269305	NM_001126112.2	191	cCTCag/cag	0	.	.	.	.	.	-	PQ/Q	protein_coding	YES	CCDS11118.1	572-574	VARSCANI*|PINDEL	.	GATGCTGAGGAGGG	SITE|p.P191delP|c.572_574delCTC|3,SITE|p.P191delP|c.572_574delCTC|3,SITE|p.P191delP|c.572_574delCTC|5,SITE|p.P59delP|c.176_178delCTC|3,SITE|p.P98delP|c.293_295delCTC|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.H193N|c.577C>A|6,CODON|p.H193D|c.577C>G|8,CODON|p.H193Y|c.577C>T|5,CODON|p.H193Y|c.577C>T|40,CODON|p.H100Y|c.298C>T|15,CODON|p.H193Y|c.577C>T|15,CODON|p.H61Y|c.181C>T|15,CODON|p.H193Y|c.577C>T|15,CODON|p.H193Y|c.577C>T|3,CODON|p.Q192H|c.576G>T|3,CODON|p.Q192Q|c.576G>A|3,CODON|p.Q192R|c.575A>G|5,CODON|p.Q192*|c.574C>T|6,CODON|p.Q99*|c.295C>T|17,CODON|p.Q192*|c.574C>T|10,CODON|p.Q192*|c.574C>T|17,CODON|p.Q192*|c.574C>T|86,CODON|p.Q192*|c.574C>T|17,CODON|p.Q60*|c.178C>T|17,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8,BUFFER|p.A189V|c.566C>T|4,BUFFER|p.A189T|c.565G>A|3,BUFFER|p.G187G|c.561T>C|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12641_12643del,COSM45140,COSM111724,COSM111721,COSM111722,COSM1735834,COSM111723	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,inframe_deletion,p.Pro191del,ENST00000413465,;TP53,inframe_deletion,p.Pro191del,ENST00000420246,;TP53,inframe_deletion,p.Pro191del,ENST00000269305,;TP53,inframe_deletion,p.Pro59del,ENST00000509690,;TP53,inframe_deletion,p.Pro191del,ENST00000359597,;TP53,inframe_deletion,p.Pro98del,ENST00000514944,;TP53,inframe_deletion,p.Pro191del,ENST00000445888,;TP53,inframe_deletion,p.Pro191del,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	762-764	215	73	SUCCESS
DNAH2	146754	.	GRCh37	17	7667529	7667529	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	134	370	0	ENST00000389173.2:c.3274A>T	p.Ile1092Phe	p.I1092F	ENST00000389173	NM_020877.2	1092	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS32551.1	3274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGATCCCT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	.	.	ENSP00000458355	.	20/86	.	.	.	.	.	.	.	.	.	20/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Ile1092Phe,ENST00000389173,;DNAH2,missense_variant,p.Ile1092Phe,ENST00000572933,;DNAH2,missense_variant,p.Ile163Phe,ENST00000574518,;	4734	370	198	SUCCESS
USP36	57602	.	GRCh37	17	76798586	76798586	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	31	0	ENST00000542802.3:c.2842G>A	p.Ala948Thr	p.A948T	ENST00000542802		948	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32755.1	2842	MUTECT|MUSE	.	CATGGCCTCTG	NONE	.	.	hmmpanther:PTHR24006:SF409,hmmpanther:PTHR24006	.	.	ENSP00000441214	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000542802	Transcript	.	.	ENSG00000055483	20062	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.66)	.	UBP36_HUMAN	USP36	HGNC	K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN	.	UPI00000398BB	SNV	USP36,missense_variant,p.Ala553Thr,ENST00000449938,;USP36,missense_variant,p.Ala948Thr,ENST00000542802,;USP36,missense_variant,p.Ala948Thr,ENST00000312010,;USP36,upstream_gene_variant,,ENST00000592231,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,missense_variant,p.Ala948Thr,ENST00000589225,;USP36,missense_variant,p.Ala948Thr,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;USP36,upstream_gene_variant,,ENST00000591052,;USP36,upstream_gene_variant,,ENST00000587379,;	3286	31	19	SUCCESS
CANT1	124583	.	GRCh37	17	76993769	76993769	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	30	47	0	ENST00000302345.2:c.-65T>G		p.*22*	ENST00000302345	NM_001159773.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11760.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGCAAGCCCA	NONE	.	.	.	.	.	ENSP00000307674	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302345	Transcript	.	.	ENSG00000171302	19721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CANT1_HUMAN	CANT1	HGNC	K7EQT4_HUMAN,K7EMT2_HUMAN,K7EKT2_HUMAN,K7EIP9_HUMAN	.	UPI00000734F8	SNV	CANT1,5_prime_UTR_variant,,ENST00000591625,;CANT1,5_prime_UTR_variant,,ENST00000588075,;CANT1,5_prime_UTR_variant,,ENST00000302345,;CANT1,intron_variant,,ENST00000586916,;CANT1,intron_variant,,ENST00000592033,;CANT1,intron_variant,,ENST00000591773,;CANT1,intron_variant,,ENST00000590370,;CANT1,intron_variant,,ENST00000392446,;CANT1,intron_variant,,ENST00000588611,;CANT1,intron_variant,,ENST00000591811,;CANT1,non_coding_transcript_exon_variant,,ENST00000592887,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,intron_variant,,ENST00000592228,;CANT1,upstream_gene_variant,,ENST00000588096,;	431	47	42	SUCCESS
ENGASE	64772	.	GRCh37	17	77081342	77081342	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1299603925	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	180	454	1	ENST00000579016.1:c.1618C>T	p.Arg540Ter	p.R540*	ENST00000579016	NM_001042573.2	540	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS42394.1	1618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCGACCC	NONE	.	.	hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,stop_gained,p.Arg540Ter,ENST00000579016,;RBFOX3,downstream_gene_variant,,ENST00000415831,;ENGASE,downstream_gene_variant,,ENST00000311595,;ENGASE,downstream_gene_variant,,ENST00000539857,;RBFOX3,downstream_gene_variant,,ENST00000583458,;ENGASE,upstream_gene_variant,,ENST00000585160,;ENGASE,downstream_gene_variant,,ENST00000584568,;ENGASE,3_prime_UTR_variant,,ENST00000300682,;ENGASE,non_coding_transcript_exon_variant,,ENST00000579809,;ENGASE,downstream_gene_variant,,ENST00000583041,;ENGASE,downstream_gene_variant,,ENST00000578419,;ENGASE,downstream_gene_variant,,ENST00000577783,;ENGASE,downstream_gene_variant,,ENST00000583646,;	1618	455	237	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79411578	79411578	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs555714796	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	74	0	ENST00000307745.7:c.2502del	p.His835ThrfsTer139	p.H835Tfs*139	ENST00000307745		832	atG/at	0	.	T:0	.	T:0	.	-	M/X	protein_coding	YES	.	2496	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGATGGGGGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	T:0	.	ENSP00000303486	T:0	11/32	.	.	.	.	.	.	.	.	rs555714796	11/32	PASS	ENST00000307745	Transcript	.	T:0.0004	ENSG00000171282	.	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.002	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	deletion	RP11-1055B8.7,frameshift_variant,p.His716ThrfsTer139,ENST00000571813,;RP11-1055B8.7,frameshift_variant,p.His835ThrfsTer139,ENST00000307745,;RP11-1055B8.7,downstream_gene_variant,,ENST00000570375,;	2496	74	86	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79423474	79423474	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370431109	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	159	309	1	ENST00000307745.7:c.4721G>A	p.Arg1574His	p.R1574H	ENST00000307745		1574	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	.	4721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCATCC	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	A:0.0001	ENSP00000303486	.	20/32	.	.	.	.	.	.	.	.	rs370431109	20/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Arg1486His,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Arg1574His,ENST00000307745,;RP11-1055B8.8,downstream_gene_variant,,ENST00000572590,;RP11-1055B8.7,non_coding_transcript_exon_variant,,ENST00000576071,;RP11-1055B8.7,upstream_gene_variant,,ENST00000576039,;	4721	310	331	SUCCESS
ARHGDIA	396	.	GRCh37	17	79827620	79827620	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752693120	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	73	1	ENST00000269321.7:c.187G>A	p.Ala63Thr	p.A63T	ENST00000269321	NM_001185078.1	63	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11788.1	187	MUTECT|MUSE	.	ACCTGCGGAAA	NONE	byFrequency	.	hmmpanther:PTHR10980:SF9,hmmpanther:PTHR10980,Pfam_domain:PF02115,Gene3D:2.70.50.30,Superfamily_domains:SSF81296,Prints_domain:PR00492	.	.	ENSP00000269321	.	2/6	.	.	.	.	.	.	.	.	rs752693120	2/6	PASS	ENST00000269321	Transcript	.	.	ENSG00000141522	678	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.34)	.	GDIR1_HUMAN	ARHGDIA	HGNC	J3KS60_HUMAN	.	UPI0000110BD8	SNV	ARHGDIA,missense_variant,p.Ala63Thr,ENST00000541078,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000579121,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000580685,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000584461,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000400721,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000581876,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000583868,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000269321,;RP11-498C9.3,downstream_gene_variant,,ENST00000576021,;RP11-498C9.3,downstream_gene_variant,,ENST00000576554,;ARHGDIA,upstream_gene_variant,,ENST00000582520,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000580033,;ARHGDIA,missense_variant,p.Ala63Thr,ENST00000578351,;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000582309,;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000582984,;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000583499,;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000583111,;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000584397,;ARHGDIA,upstream_gene_variant,,ENST00000583791,;	323	74	55	SUCCESS
ANAPC11	51529	.	GRCh37	17	79857927	79857927	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	31	92	0	ENST00000344877.5:c.241A>T	p.Lys81Ter	p.K81*	ENST00000344877	NM_001002248.1	81	Aag/Tag	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32769.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGAAGTTC	NONE	.	.	.	.	.	ENSP00000349957	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357385	Transcript	.	.	ENSG00000141552	14452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious_low_confidence(0)	.	APC11_HUMAN	ANAPC11	HGNC	.	.	UPI0000374311	SNV	ANAPC11,stop_gained,p.Lys81Ter,ENST00000575195,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000574924,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000344877,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000579978,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000583839,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000577747,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000571570,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000571874,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000572851,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000571024,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000578550,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000392376,;ANAPC11,stop_gained,p.Lys81Ter,ENST00000572639,;ANAPC11,missense_variant,p.Glu181Val,ENST00000357385,;ANAPC11,3_prime_UTR_variant,,ENST00000578544,;ANAPC11,3_prime_UTR_variant,,ENST00000577425,;ANAPC11,3_prime_UTR_variant,,ENST00000579133,;PCYT2,downstream_gene_variant,,ENST00000572995,;PCYT2,downstream_gene_variant,,ENST00000576343,;NPB,upstream_gene_variant,,ENST00000333383,;PCYT2,downstream_gene_variant,,ENST00000570391,;PCYT2,downstream_gene_variant,,ENST00000331285,;PCYT2,downstream_gene_variant,,ENST00000538936,;PCYT2,downstream_gene_variant,,ENST00000571105,;ANAPC11,downstream_gene_variant,,ENST00000585259,;ANAPC11,downstream_gene_variant,,ENST00000584197,;PCYT2,downstream_gene_variant,,ENST00000538721,;PCYT2,downstream_gene_variant,,ENST00000570388,;NPB,upstream_gene_variant,,ENST00000573081,;ANAPC11,non_coding_transcript_exon_variant,,ENST00000573956,;PCYT2,downstream_gene_variant,,ENST00000572924,;PCYT2,downstream_gene_variant,,ENST00000574343,;	678	92	45	SUCCESS
HEXDC	0	.	GRCh37	17	80391624	80391624	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	5	184	0	ENST00000337014.6:c.373C>T	p.Leu125=	p.L125=	ENST00000337014	NM_173620.2	125	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42402.1	373	MUTECT|MUSE	.	TGGCGCTGGTG	NONE	.	.	hmmpanther:PTHR21040:SF6,hmmpanther:PTHR21040,Gene3D:3.20.20.80,Pfam_domain:PF00728,Superfamily_domains:SSF51445	.	.	ENSP00000337854	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000337014	Transcript	.	.	ENSG00000169660	26307	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HEXDC_HUMAN	HEXDC	HGNC	J3QLN1_HUMAN,J3KT84_HUMAN	.	UPI00001AF695	SNV	HEXDC,synonymous_variant,p.%3D,ENST00000577944,;HEXDC,synonymous_variant,p.%3D,ENST00000337014,;HEXDC,synonymous_variant,p.%3D,ENST00000580235,;HEXDC,synonymous_variant,p.%3D,ENST00000578632,;HEXDC,synonymous_variant,p.%3D,ENST00000327949,;HEXDC,upstream_gene_variant,,ENST00000578130,;HEXDC,3_prime_UTR_variant,,ENST00000582315,;HEXDC,3_prime_UTR_variant,,ENST00000581482,;HEXDC,3_prime_UTR_variant,,ENST00000578775,;HEXDC,upstream_gene_variant,,ENST00000585077,;HEXDC,upstream_gene_variant,,ENST00000582429,;HEXDC,upstream_gene_variant,,ENST00000578616,;	847	184	125	SUCCESS
FOXK2	3607	.	GRCh37	17	80521292	80521293	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	27	40	132	0	ENST00000335255.5:c.489_490del	p.Lys164AlafsTer5	p.K164Afs*5	ENST00000335255	NM_004514.3	161	aAG/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS11813.1	482-483	INDELOCATOR|VARSCANI	.	GCGAGAAGAGAGA	NONE	.	.	hmmpanther:PTHR11829:SF106,hmmpanther:PTHR11829	.	.	ENSP00000335677	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000335255	Transcript	.	.	ENSG00000141568	6036	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXK2_HUMAN	FOXK2	HGNC	E9PM37_HUMAN	.	UPI00001A8BEE	deletion	FOXK2,frameshift_variant,p.Lys164AlafsTer5,ENST00000335255,;FOXK2,frameshift_variant,p.Lys44AlafsTer5,ENST00000526383,;FOXK2,5_prime_UTR_variant,,ENST00000531030,;FOXK2,frameshift_variant,p.Lys164AlafsTer5,ENST00000473637,;FOXK2,non_coding_transcript_exon_variant,,ENST00000570585,;FOXK2,non_coding_transcript_exon_variant,,ENST00000527313,;	656-657	132	67	SUCCESS
C17orf59	0	.	GRCh37	17	8092992	8092992	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	29	0	ENST00000389017.4:c.467G>A	p.Gly156Asp	p.G156D	ENST00000389017	NM_017622.2	156	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11133.2	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCCGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13440:SF6,hmmpanther:PTHR13440	.	.	ENSP00000373669	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000389017	Transcript	.	.	ENSG00000196544	25939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious_low_confidence(0)	.	CQ059_HUMAN	C17orf59	HGNC	.	.	UPI000022A2C3	SNV	C17orf59,missense_variant,p.Gly156Asp,ENST00000389017,;AC129492.1,downstream_gene_variant,,ENST00000579470,;	573	29	21	SUCCESS
CHMP1B	57132	.	GRCh37	18	11851635	11851635	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	85	0	ENST00000526991.2:c.125A>C	p.Lys42Thr	p.K42T	ENST00000526991	NM_020412.4	42	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS54180.1	125	MUTECT|MUSE	.	TCAGAAGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10476:SF2,hmmpanther:PTHR10476,Pfam_domain:PF03357	.	.	ENSP00000432279	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526991	Transcript	.	.	ENSG00000255112	24287	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.898)	.	deleterious(0.03)	.	CHM1B_HUMAN	CHMP1B	HGNC	B2RA72_HUMAN	.	UPI00000373BD	SNV	CHMP1B,missense_variant,p.Lys42Thr,ENST00000526991,;GNAL,intron_variant,,ENST00000535121,;GNAL,intron_variant,,ENST00000585642,;GNAL,intron_variant,,ENST00000334049,;GNAL,intron_variant,,ENST00000269162,;GNAL,intron_variant,,ENST00000423027,;GNAL,intron_variant,,ENST00000590228,;RP11-78A19.3,intron_variant,,ENST00000586474,;CHMP1B,upstream_gene_variant,,ENST00000588284,;	241	85	99	SUCCESS
ROCK1	6093	.	GRCh37	18	18625320	18625320	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	48	0	ENST00000399799.2:c.523G>A	p.Ala175Thr	p.A175T	ENST00000399799	NM_005406.2	175	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11870.2	523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGCCCATT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF037568,Superfamily_domains:SSF56112	.	.	ENSP00000382697	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000399799	Transcript	.	.	ENSG00000067900	10251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ROCK1_HUMAN	ROCK1	HGNC	.	.	UPI000006F0A4	SNV	ROCK1,missense_variant,p.Ala175Thr,ENST00000399799,;ROCK1,non_coding_transcript_exon_variant,,ENST00000582445,;	1464	48	64	SUCCESS
NPC1	4864	.	GRCh37	18	21136382	21136382	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	78	162	0	ENST00000269228.5:c.1151C>T	p.Pro384Leu	p.P384L	ENST00000269228	NM_000271.4	384	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11878.1	1151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGGGGCT	NONE	.	.	hmmpanther:PTHR10796:SF35,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00917	.	.	ENSP00000269228	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000269228	Transcript	.	.	ENSG00000141458	7897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0)	.	NPC1_HUMAN	NPC1	HGNC	.	.	UPI000013D80F	SNV	NPC1,missense_variant,p.Pro384Leu,ENST00000269228,;NPC1,missense_variant,p.Pro134Leu,ENST00000412552,;NPC1,missense_variant,p.Pro145Leu,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,upstream_gene_variant,,ENST00000590301,;	1706	162	171	SUCCESS
DSC3	1825	.	GRCh37	18	28584133	28584133	+	synonymous_variant	Silent	SNP	T	T	A	rs527772600	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	109	0	ENST00000360428.4:c.2088A>T	p.Ile696=	p.I696=	ENST00000360428	NM_001941.3	696	atA/atT	0	.	C:0.0008	.	C:0	.	A	I	protein_coding	YES	CCDS32810.1	2088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAATATTGC	NONE	by1000G	.	hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	C:0	.	ENSP00000353608	C:0	13/16	.	.	.	.	.	.	.	.	rs527772600	13/16	PASS	ENST00000360428	Transcript	.	C:0.0002	ENSG00000134762	3037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	DSC3_HUMAN	DSC3	HGNC	.	.	UPI000004CAAD	SNV	DSC3,synonymous_variant,p.%3D,ENST00000584980,;DSC3,synonymous_variant,p.%3D,ENST00000360428,;DSC3,synonymous_variant,p.%3D,ENST00000434452,;	2169	109	110	SUCCESS
SETBP1	26040	.	GRCh37	18	42532195	42532195	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	10	159	0	ENST00000282030.5:c.2890T>C	p.Phe964Leu	p.F964L	ENST00000282030	NM_015559.2	964	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11923.2	2890	MUTECT|MUSE	.	CCAAGTTCCAA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	.	.	ENSP00000282030	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000282030	Transcript	.	.	ENSG00000152217	15573	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	tolerated(0.69)	.	SETBP_HUMAN	SETBP1	HGNC	K7ES17_HUMAN	.	UPI0000201C54	SNV	SETBP1,missense_variant,p.Phe964Leu,ENST00000282030,;	3186	159	138	SUCCESS
LOXHD1	125336	.	GRCh37	18	44098132	44098132	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1459515851	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	100	0	ENST00000300591.6:c.2026G>A	p.Gly676Arg	p.G676R	ENST00000300591	NM_001145472.2	676	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS45861.1	2026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCGTTGA	NONE	.	.	PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Gene3D:2.60.60.20,Pfam_domain:PF01477,Superfamily_domains:SSF49723	.	.	ENSP00000300591	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,missense_variant,p.Gly614Arg,ENST00000582408,;LOXHD1,missense_variant,p.Gly676Arg,ENST00000300591,;LOXHD1,missense_variant,p.Gly43Arg,ENST00000452425,;LOXHD1,missense_variant,p.Gly1581Arg,ENST00000441551,;LOXHD1,missense_variant,p.Gly26Arg,ENST00000398705,;LOXHD1,missense_variant,p.Gly658Arg,ENST00000441893,;LOXHD1,missense_variant,p.Gly26Arg,ENST00000414184,;LOXHD1,missense_variant,p.Gly580Arg,ENST00000579038,;LOXHD1,missense_variant,p.Gly1725Arg,ENST00000536736,;LOXHD1,missense_variant,p.Gly1509Arg,ENST00000398722,;LOXHD1,missense_variant,p.Gly26Arg,ENST00000398686,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	2440	100	80	SUCCESS
TCF4	6925	.	GRCh37	18	52895534	52895534	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	60	0	ENST00000356073.4:c.1926C>T	p.Ser642=	p.S642=	ENST00000356073	NM_003199.2	642	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58631.1	2244	RADIA|MUTECT|MUSE	.	TCTGAGGACAC	NONE	.	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10	.	.	ENSP00000381382	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000398339	Transcript	.	.	ENSG00000196628	11634	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TCF4	HGNC	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN,E9PH57_HUMAN	.	UPI000059D58C	SNV	TCF4,synonymous_variant,p.%3D,ENST00000570177,;TCF4,synonymous_variant,p.%3D,ENST00000568740,;TCF4,synonymous_variant,p.%3D,ENST00000565018,;TCF4,synonymous_variant,p.%3D,ENST00000566279,;TCF4,synonymous_variant,p.%3D,ENST00000568673,;TCF4,synonymous_variant,p.%3D,ENST00000537578,;TCF4,synonymous_variant,p.%3D,ENST00000544241,;TCF4,synonymous_variant,p.%3D,ENST00000398339,;TCF4,synonymous_variant,p.%3D,ENST00000564403,;TCF4,synonymous_variant,p.%3D,ENST00000570287,;TCF4,synonymous_variant,p.%3D,ENST00000543082,;TCF4,synonymous_variant,p.%3D,ENST00000566286,;TCF4,synonymous_variant,p.%3D,ENST00000567880,;TCF4,synonymous_variant,p.%3D,ENST00000564228,;TCF4,synonymous_variant,p.%3D,ENST00000537856,;TCF4,synonymous_variant,p.%3D,ENST00000354452,;TCF4,synonymous_variant,p.%3D,ENST00000540999,;TCF4,synonymous_variant,p.%3D,ENST00000561831,;TCF4,synonymous_variant,p.%3D,ENST00000564999,;TCF4,synonymous_variant,p.%3D,ENST00000457482,;TCF4,synonymous_variant,p.%3D,ENST00000356073,;TCF4,synonymous_variant,p.%3D,ENST00000561992,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;	2301	60	68	SUCCESS
ST8SIA3	51046	.	GRCh37	18	55024435	55024435	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	43	148	0	ENST00000324000.3:c.594A>G	p.Gln198=	p.Q198=	ENST00000324000	NM_015879.2	198	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS32834.1	594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAAAGAGA	NONE	.	.	hmmpanther:PTHR11987:SF33,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000320431	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000324000	Transcript	.	.	ENSG00000177511	14269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA8C_HUMAN	ST8SIA3	HGNC	Q59GW3_HUMAN	.	UPI000014126D	SNV	ST8SIA3,synonymous_variant,p.%3D,ENST00000324000,;ST8SIA3,synonymous_variant,p.%3D,ENST00000586360,;	2628	148	140	SUCCESS
VPS4B	9525	.	GRCh37	18	61071042	61071042	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1387781185	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	61	0	ENST00000238497.5:c.382C>T	p.Arg128Ter	p.R128*	ENST00000238497	NM_004869.3	128	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11983.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGTTCTA	NONE	.	.	hmmpanther:PTHR23074:SF72,hmmpanther:PTHR23074,Gene3D:3.40.50.300	.	.	ENSP00000238497	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000238497	Transcript	.	.	ENSG00000119541	10895	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS4B_HUMAN	VPS4B	HGNC	.	.	UPI0000073CAF	SNV	VPS4B,stop_gained,p.Arg128Ter,ENST00000238497,;VPS4B,downstream_gene_variant,,ENST00000591519,;VPS4B,non_coding_transcript_exon_variant,,ENST00000591383,;VPS4B,missense_variant,p.Thr105Met,ENST00000588059,;VPS4B,non_coding_transcript_exon_variant,,ENST00000589604,;VPS4B,non_coding_transcript_exon_variant,,ENST00000591475,;	586	61	62	SUCCESS
TMX3	54495	.	GRCh37	18	66377257	66377257	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	90	0	ENST00000299608.2:c.265+1G>C		p.X89_splice	ENST00000299608	NM_019022.3	89		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32840.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTACTAGAA	NONE	.	.	.	.	.	ENSP00000299608	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000299608	Transcript	.	.	ENSG00000166479	24718	.	.	HIGH	4/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMX3_HUMAN	TMX3	HGNC	.	.	UPI000004A093	SNV	TMX3,splice_donor_variant,,ENST00000443099,;TMX3,splice_donor_variant,,ENST00000544714,;TMX3,splice_donor_variant,,ENST00000562706,;TMX3,splice_donor_variant,,ENST00000299608,;TMX3,splice_donor_variant,,ENST00000569982,;TMX3,splice_donor_variant,,ENST00000569053,;TMX3,splice_donor_variant,,ENST00000564631,;TMX3,splice_donor_variant,,ENST00000565918,;TMX3,intron_variant,,ENST00000564008,;	.	90	85	SUCCESS
ENOSF1	55556	.	GRCh37	18	675343	675343	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1295937924	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	53	96	0	ENST00000251101.7:c.1208G>A	p.Arg403Gln	p.R403Q	ENST00000251101	NM_017512.5	403	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11823.1	1229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCGCTGG	NONE	.	.	hmmpanther:PTHR13794,hmmpanther:PTHR13794:SF2,Gene3D:3.20.20.120,Pfam_domain:PF13378,Superfamily_domains:SSF51604	.	.	ENSP00000345974	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000340116	Transcript	.	.	ENSG00000132199	30365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.26)	.	ENOF1_HUMAN	ENOSF1	HGNC	Q6ZS08_HUMAN	.	UPI0000252153	SNV	ENOSF1,missense_variant,p.Arg403Gln,ENST00000251101,;ENOSF1,missense_variant,p.Arg321Gln,ENST00000383578,;ENOSF1,missense_variant,p.Arg327Gln,ENST00000580982,;ENOSF1,missense_variant,p.Arg173Gln,ENST00000319815,;ENOSF1,missense_variant,p.Arg410Gln,ENST00000340116,;TYMS,downstream_gene_variant,,ENST00000323224,;TYMS,downstream_gene_variant,,ENST00000323250,;TYMS,downstream_gene_variant,,ENST00000323274,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000583973,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000581928,;TYMS,downstream_gene_variant,,ENST00000581920,;ENOSF1,3_prime_UTR_variant,,ENST00000581475,;ENOSF1,3_prime_UTR_variant,,ENST00000585128,;ENOSF1,3_prime_UTR_variant,,ENST00000584453,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000582745,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584259,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000581906,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584646,;ENOSF1,downstream_gene_variant,,ENST00000584706,;	1267	96	120	SUCCESS
CD226	10666	.	GRCh37	18	67614087	67614087	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	16	228	0	ENST00000280200.4:c.265A>G	p.Asn89Asp	p.N89D	ENST00000280200	NM_006566.2	89	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11997.1	265	MUTECT|MUSE|VARSCANS	.	GTTATTGGAAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277:SF58,hmmpanther:PTHR23277,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000280200	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000280200	Transcript	.	.	ENSG00000150637	16961	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.038)	.	tolerated(0.18)	.	CD226_HUMAN	CD226	HGNC	J3QRQ4_HUMAN,J3QR77_HUMAN,J3QQW1_HUMAN,J3QL19_HUMAN,J3QKM7_HUMAN	.	UPI000013DC05	SNV	CD226,missense_variant,p.Asn89Asp,ENST00000280200,;CD226,missense_variant,p.Asn89Asp,ENST00000583955,;CD226,missense_variant,p.Asn89Asp,ENST00000582621,;CD226,missense_variant,p.Asn89Asp,ENST00000579496,;CD226,missense_variant,p.Asn89Asp,ENST00000580335,;CD226,intron_variant,,ENST00000581982,;CD226,intron_variant,,ENST00000577287,;	534	228	193	SUCCESS
RTTN	25914	.	GRCh37	18	67844066	67844066	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	120	1	ENST00000255674.6:c.1321C>A	p.Leu441Met	p.L441M	ENST00000255674	NM_173630.3	441	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS42443.1	1321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGAGTA	NONE	.	.	hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	.	.	ENSP00000255674	.	11/49	.	.	.	.	.	.	.	.	.	11/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.16)	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,missense_variant,p.Leu441Met,ENST00000255674,;RTTN,missense_variant,p.Leu441Met,ENST00000454359,;RTTN,missense_variant,p.Leu441Met,ENST00000437017,;RTTN,upstream_gene_variant,,ENST00000584659,;RTTN,missense_variant,p.Leu441Met,ENST00000581161,;RTTN,missense_variant,p.Leu231Met,ENST00000583043,;RTTN,non_coding_transcript_exon_variant,,ENST00000581583,;	1608	121	92	SUCCESS
ZNF516	9658	.	GRCh37	18	74155027	74155027	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	29	0	ENST00000443185.2:c.-17C>T		p.*6*	ENST00000443185	NM_014643.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGGCCGGT	NONE	.	.	.	.	.	ENSP00000394757	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000443185	Transcript	.	.	ENSG00000101493	28990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN516_HUMAN	ZNF516	HGNC	F5H2K2_HUMAN	.	UPI00001394A1	SNV	ZNF516,5_prime_UTR_variant,,ENST00000443185,;ZNF516,5_prime_UTR_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	302	29	40	SUCCESS
ZNF516	9658	.	GRCh37	18	74155101	74155101	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	8	0	ENST00000443185.2:c.-91del		p.*31*	ENST00000443185	NM_014643.3			0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR|VARSCANI	.	AGAGCCAAAAGA	NONE	.	.	.	.	.	ENSP00000394757	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000443185	Transcript	.	.	ENSG00000101493	28990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN516_HUMAN	ZNF516	HGNC	F5H2K2_HUMAN	.	UPI00001394A1	deletion	ZNF516,5_prime_UTR_variant,,ENST00000443185,;ZNF516,5_prime_UTR_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	228	8	20	SUCCESS
CTDP1	9150	.	GRCh37	18	77488909	77488909	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs777446741	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	60	0	ENST00000299543.7:c.2420C>T	p.Ala807Val	p.A807V	ENST00000299543	NM_001202504.1	807	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12017.1	2420	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCGGTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23081:SF0,hmmpanther:PTHR23081,Pfam_domain:PF09309	.	.	ENSP00000299543	.	11/13	.	.	.	.	.	.	.	.	rs777446741,COSM990106	11/13	PASS	ENST00000299543	Transcript	.	.	ENSG00000060069	2498	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.01)	.	tolerated(0.99)	0,1	CTDP1_HUMAN	CTDP1	HGNC	K7EPW4_HUMAN	.	UPI000013C57B	SNV	CTDP1,missense_variant,p.Ala739Val,ENST00000591598,;CTDP1,missense_variant,p.Ala807Val,ENST00000299543,;CTDP1,intron_variant,,ENST00000075430,;	2567	60	49	SUCCESS
ADNP2	22850	.	GRCh37	18	77895803	77895803	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	46	0	ENST00000262198.4:c.2507A>T	p.Glu836Val	p.E836V	ENST00000262198	NM_014913.3	836	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32853.1	2507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGAGCGGG	NONE	.	.	hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740	.	.	ENSP00000262198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262198	Transcript	.	.	ENSG00000101544	23803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	ADNP2_HUMAN	ADNP2	HGNC	H0YLN6_HUMAN	.	UPI0000071DEA	SNV	ADNP2,missense_variant,p.Glu836Val,ENST00000262198,;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;ADNP2,downstream_gene_variant,,ENST00000560752,;	2962	46	47	SUCCESS
P2RY11	5032	.	GRCh37	19	10225062	10225062	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	54	0	ENST00000321826.4:c.773C>G	p.Ala258Gly	p.A258G	ENST00000321826	NM_002566.4	258	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS42498.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACGCCAGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000377385	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000393796	Transcript	.	.	ENSG00000243207	33526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	tolerated_low_confidence(0.06)	.	.	PPAN-P2RY11	HGNC	.	.	UPI000016A418	SNV	PPAN-P2RY11,missense_variant,p.Ala678Gly,ENST00000393796,;PPAN,missense_variant,p.Ala678Gly,ENST00000556468,;P2RY11,missense_variant,p.Ala258Gly,ENST00000321826,;PPAN-P2RY11,3_prime_UTR_variant,,ENST00000428358,;EIF3G,downstream_gene_variant,,ENST00000253108,;EIF3G,downstream_gene_variant,,ENST00000588709,;PPAN,downstream_gene_variant,,ENST00000444703,;EIF3G,downstream_gene_variant,,ENST00000589454,;PPAN,downstream_gene_variant,,ENST00000393793,;PPAN,downstream_gene_variant,,ENST00000253107,;EIF3G,downstream_gene_variant,,ENST00000587146,;PPAN,downstream_gene_variant,,ENST00000446223,;EIF3G,downstream_gene_variant,,ENST00000593054,;SNORD105B,downstream_gene_variant,,ENST00000458770,;P2RY11,downstream_gene_variant,,ENST00000471843,;EIF3G,downstream_gene_variant,,ENST00000587168,;EIF3G,downstream_gene_variant,,ENST00000590647,;EIF3G,downstream_gene_variant,,ENST00000590940,;EIF3G,downstream_gene_variant,,ENST00000589009,;PPAN,downstream_gene_variant,,ENST00000486482,;EIF3G,downstream_gene_variant,,ENST00000587993,;EIF3G,downstream_gene_variant,,ENST00000593066,;EIF3G,downstream_gene_variant,,ENST00000593095,;EIF3G,downstream_gene_variant,,ENST00000586151,;EIF3G,downstream_gene_variant,,ENST00000587590,;PPAN,downstream_gene_variant,,ENST00000468881,;EIF3G,downstream_gene_variant,,ENST00000590158,;EIF3G,downstream_gene_variant,,ENST00000589458,;EIF3G,downstream_gene_variant,,ENST00000587681,;PPAN,downstream_gene_variant,,ENST00000466025,;EIF3G,downstream_gene_variant,,ENST00000589674,;EIF3G,downstream_gene_variant,,ENST00000592485,;	2033	54	54	SUCCESS
ICAM5	7087	.	GRCh37	19	10405166	10405166	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	46	131	0	ENST00000221980.4:c.2080G>A	p.Gly694Ser	p.G694S	ENST00000221980	NM_003259.3	694	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS12233.1	2080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGGTCGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000221980	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000221980	Transcript	.	.	ENSG00000105376	5348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,missense_variant,p.Gly694Ser,ENST00000221980,;ICAM5,downstream_gene_variant,,ENST00000587398,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	2143	131	118	SUCCESS
SLC44A2	57153	.	GRCh37	19	10748543	10748543	+	synonymous_variant	Silent	SNP	C	C	T	rs769847982	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	112	0	ENST00000335757.5:c.1707C>T	p.Tyr569=	p.Y569=	ENST00000335757		569	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS12245.1	1707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTACGGCAC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF34,Pfam_domain:PF04515	.	.	ENSP00000336888	.	18/22	.	.	.	.	.	.	.	.	rs769847982	18/22	PASS	ENST00000335757	Transcript	.	.	ENSG00000129353	17292	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTL2_HUMAN	SLC44A2	HGNC	B3KX31_HUMAN	.	UPI000013CCAB	SNV	SLC44A2,synonymous_variant,p.%3D,ENST00000586078,;SLC44A2,synonymous_variant,p.%3D,ENST00000407327,;SLC44A2,synonymous_variant,p.%3D,ENST00000586549,;SLC44A2,synonymous_variant,p.%3D,ENST00000335757,;SLC44A2,synonymous_variant,p.%3D,ENST00000591194,;AC011475.1,upstream_gene_variant,,ENST00000430975,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000588214,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000589561,;SLC44A2,downstream_gene_variant,,ENST00000588393,;SLC44A2,downstream_gene_variant,,ENST00000588465,;SLC44A2,upstream_gene_variant,,ENST00000590475,;SLC44A2,downstream_gene_variant,,ENST00000588409,;	2083	112	93	SUCCESS
C19orf38	255809	.	GRCh37	19	10961063	10961063	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs1165167610	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	43	84	0	ENST00000397820.4:c.165del	p.Gln56ArgfsTer15	p.Q56Rfs*15	ENST00000397820	NM_001136482.1	54	Ggg/gg	0	.	A:0	.	A:0	.	-	G/X	protein_coding	YES	CCDS45970.1	160	INDELOCATOR*|VARSCANI*|PINDEL	.	TATCGAGGGGGG	NONE	by1000G	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10	A:0	.	ENSP00000380920	A:0	2/7	.	.	.	.	.	.	.	.	rs534745530	2/7	PASS	ENST00000397820	Transcript	.	A:0.0002	ENSG00000214212	34073	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.001	.	.	HIDE1_HUMAN	C19orf38	HGNC	.	.	UPI0000160991	deletion	C19orf38,frameshift_variant,p.Gln56ArgfsTer15,ENST00000397820,;C19orf38,frameshift_variant,p.Gln56ArgfsTer15,ENST00000592854,;C19orf38,non_coding_transcript_exon_variant,,ENST00000587494,;	267	84	132	SUCCESS
LDLR	3949	.	GRCh37	19	11217304	11217304	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139507589	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	128	0	ENST00000558518.1:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000558518	NM_001195798.1	253	cGg/cAg	0	A:0.0005	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12254.1	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGCAGT	NONE	byCluster	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	A:0	ENSP00000454071	.	5/18	.	.	.	.	.	.	.	.	CM0910342,rs139507589	5/18	PASS	ENST00000558518	Transcript	1	.	ENSG00000130164	6547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0	.	.	benign(0.107)	.	tolerated(0.11)	.	LDLR_HUMAN	LDLR	HGNC	Q6LCH2_HUMAN,E1B4S5_HUMAN	.	UPI00000015DF	SNV	LDLR,missense_variant,p.Arg253Gln,ENST00000558013,;LDLR,missense_variant,p.Arg126Gln,ENST00000545707,;LDLR,missense_variant,p.Arg212Gln,ENST00000535915,;LDLR,missense_variant,p.Arg338Gln,ENST00000252444,;LDLR,missense_variant,p.Arg253Gln,ENST00000558518,;LDLR,missense_variant,p.Arg120Gln,ENST00000560467,;LDLR,missense_variant,p.Arg253Gln,ENST00000557933,;LDLR,intron_variant,,ENST00000455727,;LDLR,non_coding_transcript_exon_variant,,ENST00000558528,;LDLR,downstream_gene_variant,,ENST00000557958,;LDLR,upstream_gene_variant,,ENST00000560173,;	945	128	110	SUCCESS
ZNF700	90592	.	GRCh37	19	12059373	12059373	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	7	149	0	ENST00000254321.5:c.534C>T	p.Arg178=	p.R178=	ENST00000254321	NM_144566.2	178	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32915.1	534	MUTECT|MUSE	.	TATCGCCCATC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000254321	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254321	Transcript	.	.	ENSG00000196757	25292	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN700_HUMAN	ZNF700	HGNC	.	.	UPI00000713C0	SNV	ZNF700,synonymous_variant,p.%3D,ENST00000254321,;ZNF700,synonymous_variant,p.%3D,ENST00000482090,;ZNF763,intron_variant,,ENST00000538752,;ZNF763,intron_variant,,ENST00000590798,;ZNF763,intron_variant,,ENST00000591944,;CTD-2006C1.12,intron_variant,,ENST00000586394,;ZNF763,intron_variant,,ENST00000591441,;ZNF763,upstream_gene_variant,,ENST00000586354,;	677	149	154	SUCCESS
STK11	6794	.	GRCh37	19	1218439	1218439	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	87	0	ENST00000326873.7:c.314T>G	p.Leu105Ter	p.L105*	ENST00000326873	NM_000455.4	105	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS45896.1	314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTTACGGC	CODON|p.0?|c.1_1302del1302|16,CODON|p.?|c.1_378del378|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF1,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000324856	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000326873	Transcript	1	.	ENSG00000118046	11389	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK11_HUMAN	STK11	HGNC	Q9NS52_HUMAN	.	UPI0000136105	SNV	STK11,stop_gained,p.Leu105Ter,ENST00000326873,;STK11,intron_variant,,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000586243,;STK11,non_coding_transcript_exon_variant,,ENST00000585748,;STK11,3_prime_UTR_variant,,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,upstream_gene_variant,,ENST00000591133,;STK11,upstream_gene_variant,,ENST00000585465,;	1487	87	61	SUCCESS
CTD-2666L21.1	0	.	GRCh37	19	12305889	12305889	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	11	0	ENST00000426044.1:n.58C>T		p.*20*	ENST00000426044				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTACGCGCG	NONE	.	.	.	.	.	.	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000426044	Transcript	.	.	ENSG00000234773	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2666L21.1	Clone_based_vega_gene	.	.	.	SNV	CTD-2666L21.1,non_coding_transcript_exon_variant,,ENST00000426044,;CTD-2666L21.1,non_coding_transcript_exon_variant,,ENST00000440004,;CTD-2666L21.1,non_coding_transcript_exon_variant,,ENST00000415793,;CTD-2666L21.1,upstream_gene_variant,,ENST00000451691,;	58	11	14	SUCCESS
ZNF490	57474	.	GRCh37	19	12692077	12692077	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs773301575	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	78	0	ENST00000311437.6:c.812del	p.Asn271IlefsTer24	p.N271Ifs*24	ENST00000311437	NM_020714.2	271	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS12272.1	812	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGTGATTTTTT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF16,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000311521	.	5/5	.	.	.	.	.	.	.	.	rs773301575	5/5	PASS	ENST00000311437	Transcript	.	.	ENSG00000188033	23705	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN490_HUMAN	ZNF490	HGNC	.	.	UPI0000001C6F	deletion	ZNF490,frameshift_variant,p.Asn271IlefsTer24,ENST00000311437,;ZNF490,downstream_gene_variant,,ENST00000440366,;ZNF490,downstream_gene_variant,,ENST00000465656,;CTD-2192J16.20,upstream_gene_variant,,ENST00000593682,;ZNF490,downstream_gene_variant,,ENST00000414906,;	935	78	104	SUCCESS
NFIX	4784	.	GRCh37	19	13135850	13135850	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	59	0	ENST00000592199.1:c.43T>C	p.Phe15Leu	p.F15L	ENST00000592199		15	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS45996.1	43	MUTECT|MUSE|VARSCANS	.	ACCCGTTCATC	NONE	.	.	PROSITE_profiles:PS51080,hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF10524	.	.	ENSP00000380781	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000397661	Transcript	1	.	ENSG00000008441	7788	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.396)	.	deleterious(0)	.	NFIX_HUMAN	NFIX	HGNC	K7ESG9_HUMAN,K7EKH0_HUMAN	.	UPI000002AF1D	SNV	NFIX,missense_variant,p.Phe31Leu,ENST00000591028,;NFIX,missense_variant,p.Phe15Leu,ENST00000592199,;NFIX,missense_variant,p.Phe7Leu,ENST00000587760,;NFIX,missense_variant,p.Phe14Leu,ENST00000358552,;NFIX,missense_variant,p.Phe15Leu,ENST00000397661,;NFIX,missense_variant,p.Phe18Leu,ENST00000360105,;NFIX,missense_variant,p.Phe14Leu,ENST00000587260,;NFIX,missense_variant,p.Phe7Leu,ENST00000585575,;NFIX,5_prime_UTR_variant,,ENST00000586873,;NFIX,5_prime_UTR_variant,,ENST00000590027,;NFIX,5_prime_UTR_variant,,ENST00000588228,;NFIX,synonymous_variant,p.%3D,ENST00000586797,;NFIX,5_prime_UTR_variant,,ENST00000585382,;	273	59	56	SUCCESS
MRI1	84245	.	GRCh37	19	13882965	13882965	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	6	142	1	ENST00000040663.6:c.980T>A	p.Val327Asp	p.V327D	ENST00000040663	NM_001031727.2	327	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS32923.1	980	MUTECT|MUSE	.	CGATGTCACCC	BUFFER|p.H330fs*24|c.983delC|4,BUFFER|p.H283fs*24|c.842delC|4	.	.	HAMAP:MF_01678,hmmpanther:PTHR10233:SF6,hmmpanther:PTHR10233,TIGRFAM_domain:TIGR00512,Pfam_domain:PF01008,Gene3D:3.40.50.10470,TIGRFAM_domain:TIGR00524,Superfamily_domains:SSF100950	.	.	ENSP00000040663	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000040663	Transcript	.	.	ENSG00000037757	28469	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MTNA_HUMAN	MRI1	HGNC	.	.	UPI0000051F79	SNV	MRI1,missense_variant,p.Val327Asp,ENST00000040663,;MRI1,missense_variant,p.Val280Asp,ENST00000319545,;C19orf53,upstream_gene_variant,,ENST00000593274,;C19orf53,upstream_gene_variant,,ENST00000588234,;C19orf53,upstream_gene_variant,,ENST00000221576,;MRI1,downstream_gene_variant,,ENST00000593245,;CTB-5E10.3,non_coding_transcript_exon_variant,,ENST00000586894,;CTB-5E10.3,downstream_gene_variant,,ENST00000591826,;CTB-5E10.3,downstream_gene_variant,,ENST00000586297,;MRI1,downstream_gene_variant,,ENST00000588526,;MRI1,downstream_gene_variant,,ENST00000589290,;C19orf53,upstream_gene_variant,,ENST00000592760,;MRI1,downstream_gene_variant,,ENST00000591688,;C19orf53,upstream_gene_variant,,ENST00000588841,;C19orf53,upstream_gene_variant,,ENST00000588858,;	1020	143	158	SUCCESS
NDUFS7	374291	.	GRCh37	19	1395199	1395199	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	17	0	ENST00000233627.9:c.545-191A>T		p.*182*	ENST00000233627	NM_024407.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12063.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGACCCCA	NONE	.	.	.	.	.	ENSP00000233627	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000233627	Transcript	1	.	ENSG00000115286	7714	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUS7_HUMAN	NDUFS7	HGNC	Q7LD69_HUMAN	.	UPI000006ED2D	SNV	NDUFS7,3_prime_UTR_variant,,ENST00000313408,;NDUFS7,intron_variant,,ENST00000233627,;GAMT,downstream_gene_variant,,ENST00000447102,;NDUFS7,downstream_gene_variant,,ENST00000546283,;GAMT,downstream_gene_variant,,ENST00000591788,;NDUFS7,downstream_gene_variant,,ENST00000414651,;GAMT,downstream_gene_variant,,ENST00000252288,;NDUFS7,downstream_gene_variant,,ENST00000539480,;AC005329.7,non_coding_transcript_exon_variant,,ENST00000501448,;AC005329.7,upstream_gene_variant,,ENST00000585596,;AC005329.7,upstream_gene_variant,,ENST00000589734,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000540530,;NDUFS7,downstream_gene_variant,,ENST00000538929,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000535382,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000543289,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000591358,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000545446,;NDUFS7,intron_variant,,ENST00000534853,;NDUFS7,intron_variant,,ENST00000546172,;NDUFS7,downstream_gene_variant,,ENST00000538662,;NDUFS7,downstream_gene_variant,,ENST00000436115,;NDUFS7,downstream_gene_variant,,ENST00000538523,;	.	17	15	SUCCESS
NANOS3	342977	.	GRCh37	19	13988407	13988407	+	synonymous_variant	Silent	SNP	C	C	T	rs750541441	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	62	0	ENST00000397555.2:c.288C>T	p.Cys96=	p.C96=	ENST00000397555	NM_001098622.2	96	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS42511.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGGCGC	NONE	byFrequency	.	Pfam_domain:PF05741,hmmpanther:PTHR12887:SF3,hmmpanther:PTHR12887,PROSITE_profiles:PS51522	.	.	ENSP00000341992	.	1/2	.	.	.	.	.	.	.	.	rs750541441	1/2	PASS	ENST00000339133	Transcript	.	.	ENSG00000187556	22048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANO3_HUMAN	NANOS3	HGNC	.	.	UPI0000366D46	SNV	NANOS3,synonymous_variant,p.%3D,ENST00000339133,;NANOS3,synonymous_variant,p.%3D,ENST00000397555,;C19orf57,downstream_gene_variant,,ENST00000454313,;C19orf57,downstream_gene_variant,,ENST00000586783,;C19orf57,downstream_gene_variant,,ENST00000591586,;C19orf57,downstream_gene_variant,,ENST00000588115,;C19orf57,downstream_gene_variant,,ENST00000346736,;MIR181D,downstream_gene_variant,,ENST00000384853,;MIR181C,downstream_gene_variant,,ENST00000384881,;NANOS3,intron_variant,,ENST00000591727,;NANOS3,intron_variant,,ENST00000591161,;	347	62	50	SUCCESS
CC2D1A	54862	.	GRCh37	19	14024359	14024359	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773188635	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	60	165	1	ENST00000318003.7:c.656C>T	p.Ala219Val	p.A219V	ENST00000318003	NM_017721.4	219	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42512.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCGCGTCAG	NONE	.	.	hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7	.	.	ENSP00000313601	.	6/29	.	.	.	.	.	.	.	.	rs773188635,COSM991768	6/29	PASS	ENST00000318003	Transcript	1	.	ENSG00000132024	30237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.31)	0,1	C2D1A_HUMAN	CC2D1A	HGNC	.	.	UPI0000203524	SNV	CC2D1A,missense_variant,p.Ala219Val,ENST00000589606,;CC2D1A,missense_variant,p.Ala219Val,ENST00000318003,;CC2D1A,missense_variant,p.Ala65Val,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000585896,;CC2D1A,upstream_gene_variant,,ENST00000589138,;	897	166	160	SUCCESS
ADAMTSL5	339366	.	GRCh37	19	1510710	1510710	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1366512261	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	48	191	0	ENST00000330475.4:c.119C>T	p.Pro40Leu	p.P40L	ENST00000330475	NM_213604.2	40	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12071.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACGGGGTC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF146,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000327608	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000330475	Transcript	.	.	ENSG00000185761	27912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.1)	.	ATL5_HUMAN	ADAMTSL5	HGNC	A4QPG6_HUMAN	.	UPI00001D8216	SNV	ADAMTSL5,missense_variant,p.Pro40Leu,ENST00000330475,;ADAMTSL5,missense_variant,p.Pro50Leu,ENST00000413997,;ADAMTSL5,5_prime_UTR_variant,,ENST00000395467,;ADAMTSL5,upstream_gene_variant,,ENST00000590090,;CTB-25B13.9,downstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585804,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000586272,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590562,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000589839,;ADAMTSL5,upstream_gene_variant,,ENST00000590682,;ADAMTSL5,upstream_gene_variant,,ENST00000587828,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;	563	191	79	SUCCESS
NOTCH3	4854	.	GRCh37	19	15278080	15278080	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	41	0	ENST00000263388.2:c.5342A>T	p.Asp1781Val	p.D1781V	ENST00000263388	NM_000435.2	1781	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS12326.1	5342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACATCCATG	NONE	.	.	Superfamily_domains:SSF48403,PIRSF_domain:PIRSF002279,Gene3D:1.25.40.20,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50297	.	.	ENSP00000263388	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Asp1781Val,ENST00000263388,;NOTCH3,upstream_gene_variant,,ENST00000597756,;NOTCH3,missense_variant,p.Asp70Val,ENST00000595514,;	5418	41	35	SUCCESS
AKAP8	10270	.	GRCh37	19	15483896	15483896	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	62	146	0	ENST00000269701.2:c.627del	p.Phe210SerfsTer18	p.F210Sfs*18	ENST00000269701	NM_005858.3	209	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS12329.1	627	INDELOCATOR*|VARSCANI*|PINDEL	.	CACGAAGGGGTC	NONE	.	.	hmmpanther:PTHR12190:SF5,hmmpanther:PTHR12190	.	.	ENSP00000269701	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000269701	Transcript	.	.	ENSG00000105127	378	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKAP8_HUMAN	AKAP8	HGNC	Q9UG73_HUMAN	.	UPI000012575C	deletion	AKAP8,frameshift_variant,p.Phe210SerfsTer18,ENST00000269701,;AKAP8,frameshift_variant,p.Phe24SerfsTer18,ENST00000598597,;AKAP8,frameshift_variant,p.Pro116LeufsTer9,ENST00000599883,;AKAP8,non_coding_transcript_exon_variant,,ENST00000537303,;AKAP8,downstream_gene_variant,,ENST00000595416,;	688	146	225	SUCCESS
TPM4	7171	.	GRCh37	19	16192750	16192750	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs771765172	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	52	0	ENST00000300933.4:c.160C>T	p.Arg54Ter	p.R54*	ENST00000300933	NM_003290.2	54	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46007.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACCGACGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269:SF40,hmmpanther:PTHR19269,Pfam_domain:PF00261,Gene3D:1.20.5.340,Superfamily_domains:SSF57997,Prints_domain:PR00194	.	.	ENSP00000439135	.	3/10	.	.	.	.	.	.	.	.	rs771765172	3/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,stop_gained,p.Arg74Ter,ENST00000586499,;TPM4,stop_gained,p.Arg90Ter,ENST00000344824,;TPM4,stop_gained,p.Arg54Ter,ENST00000300933,;TPM4,stop_gained,p.Arg51Ter,ENST00000588410,;TPM4,stop_gained,p.Arg53Ter,ENST00000586833,;TPM4,stop_gained,p.Arg90Ter,ENST00000538887,;TPM4,5_prime_UTR_variant,,ENST00000592138,;TPM4,5_prime_UTR_variant,,ENST00000588483,;TPM4,intron_variant,,ENST00000588507,;TPM4,non_coding_transcript_exon_variant,,ENST00000590180,;TPM4,non_coding_transcript_exon_variant,,ENST00000587201,;	355	52	43	SUCCESS
TCF3	6929	.	GRCh37	19	1625583	1625583	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1414359484	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	77	157	0	ENST00000344749.5:c.491G>A	p.Gly164Asp	p.G164D	ENST00000344749	NM_001136139.2	164	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12074.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCGTCT	NONE	.	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF7	.	.	ENSP00000262965	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000262965	Transcript	1	.	ENSG00000071564	11633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	tolerated(0.51)	.	TFE2_HUMAN	TCF3	HGNC	Q6PJU3_HUMAN,K7EPS2_HUMAN,K7ENI0_HUMAN,K7EKB9_HUMAN,B1NYC3_HUMAN	.	UPI0000136C80	SNV	TCF3,missense_variant,p.Gly164Asp,ENST00000588136,;TCF3,missense_variant,p.Gly164Asp,ENST00000344749,;TCF3,missense_variant,p.Gly193Asp,ENST00000587235,;TCF3,missense_variant,p.Gly164Asp,ENST00000262965,;TCF3,missense_variant,p.Gly80Asp,ENST00000453954,;TCF3,missense_variant,p.Gly113Asp,ENST00000395423,;TCF3,upstream_gene_variant,,ENST00000586410,;TCF3,upstream_gene_variant,,ENST00000590436,;	836	157	113	SUCCESS
TMEM38A	79041	.	GRCh37	19	16797152	16797152	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs78725797	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	44	0	ENST00000187762.2:c.608G>A	p.Arg203His	p.R203H	ENST00000187762	NM_024074.1	203	cGc/cAc	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS12349.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGCTGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12454:SF3,hmmpanther:PTHR12454,Pfam_domain:PF05197	.	A:0	ENSP00000187762	.	5/6	.	.	.	.	.	.	.	.	rs78725797	5/6	PASS	ENST00000187762	Transcript	.	.	ENSG00000072954	28462	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.95)	.	TM38A_HUMAN	TMEM38A	HGNC	.	.	UPI000006E0B9	SNV	TMEM38A,missense_variant,p.Arg203His,ENST00000187762,;TMEM38A,intron_variant,,ENST00000599479,;	699	44	40	SUCCESS
CPAMD8	27151	.	GRCh37	19	17010283	17010283	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	41	0	ENST00000443236.1:c.4989+3A>G		p.X1663_splice	ENST00000443236	NM_015692.2	1663		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42519.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGTACCTC	NONE	.	.	.	.	.	ENSP00000402505	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	LOW	37/41	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,splice_region_variant,,ENST00000443236,;CPAMD8,splice_region_variant,,ENST00000594249,;CPAMD8,splice_region_variant,,ENST00000599287,;CPAMD8,upstream_gene_variant,,ENST00000598792,;CPAMD8,upstream_gene_variant,,ENST00000598547,;CPAMD8,upstream_gene_variant,,ENST00000602132,;CPAMD8,upstream_gene_variant,,ENST00000597335,;CPAMD8,upstream_gene_variant,,ENST00000595323,;CPAMD8,upstream_gene_variant,,ENST00000600235,;CPAMD8,upstream_gene_variant,,ENST00000593739,;CPAMD8,upstream_gene_variant,,ENST00000596224,;CPAMD8,upstream_gene_variant,,ENST00000596572,;CPAMD8,upstream_gene_variant,,ENST00000597709,;CPAMD8,upstream_gene_variant,,ENST00000601782,;CPAMD8,upstream_gene_variant,,ENST00000598104,;	.	41	30	SUCCESS
ANO8	57719	.	GRCh37	19	17434419	17434419	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	40	0	ENST00000159087.4:c.3606A>G	p.Leu1202=	p.L1202=	ENST00000159087	NM_020959.2	1202	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS32949.1	3606	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGTAGCGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000159087	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000159087	Transcript	.	.	ENSG00000074855	29329	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANO8_HUMAN	ANO8	HGNC	.	.	UPI00001C200F	SNV	ANO8,synonymous_variant,p.%3D,ENST00000159087,;DDA1,downstream_gene_variant,,ENST00000359866,;ANO8,3_prime_UTR_variant,,ENST00000597643,;DDA1,downstream_gene_variant,,ENST00000594501,;DDA1,downstream_gene_variant,,ENST00000596582,;DDA1,downstream_gene_variant,,ENST00000593466,;	3765	40	39	SUCCESS
REXO1	57455	.	GRCh37	19	1827184	1827184	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	17	54	0	ENST00000170168.4:c.1604T>C	p.Val535Ala	p.V535A	ENST00000170168	NM_020695.3	535	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32866.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCACCCCT	NONE	.	.	.	.	.	ENSP00000170168	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000170168	Transcript	.	.	ENSG00000079313	24616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	REXO1_HUMAN	REXO1	HGNC	.	.	UPI0000202F63	SNV	REXO1,missense_variant,p.Val535Ala,ENST00000170168,;CTB-31O20.4,downstream_gene_variant,,ENST00000587741,;CTB-31O20.4,downstream_gene_variant,,ENST00000590531,;CTB-31O20.4,downstream_gene_variant,,ENST00000593201,;REXO1,downstream_gene_variant,,ENST00000587524,;CTB-31O20.4,downstream_gene_variant,,ENST00000590823,;	1699	54	26	SUCCESS
CSNK1G2-AS1	255193	.	GRCh37	19	1953936	1953936	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs760552497	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	56	0	ENST00000586395.1:n.650G>A		p.*217*	ENST00000586395				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12077.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGCGGTGA	NONE	.	.	.	.	.	ENSP00000255641	.	.	.	.	.	.	.	.	.	.	rs760552497,COSM993328	.	PASS	ENST00000255641	Transcript	.	.	ENSG00000133275	2455	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KC1G2_HUMAN	CSNK1G2	HGNC	.	.	UPI00000015E2	SNV	CSNK1G2,intron_variant,,ENST00000255641,;CSNK1G2,intron_variant,,ENST00000591752,;CSNK1G2,upstream_gene_variant,,ENST00000589350,;CSNK1G2-AS1,non_coding_transcript_exon_variant,,ENST00000586395,;CSNK1G2-AS1,non_coding_transcript_exon_variant,,ENST00000314315,;CSNK1G2,downstream_gene_variant,,ENST00000587123,;	.	56	32	SUCCESS
ZNF708	7562	.	GRCh37	19	21512135	21512135	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	22	0	ENST00000356929.3:c.-121C>T		p.*41*	ENST00000356929	NM_021269.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32980.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCGGAGCTC	NONE	.	.	.	.	.	ENSP00000349401	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,5_prime_UTR_variant,,ENST00000356929,;ZNF708,5_prime_UTR_variant,,ENST00000602023,;ZNF708,5_prime_UTR_variant,,ENST00000601295,;ZNF708,5_prime_UTR_variant,,ENST00000598046,;	78	22	29	SUCCESS
DOT1L	84444	.	GRCh37	19	2193778	2193778	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757113225	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	51	0	ENST00000398665.3:c.584C>T	p.Ala195Val	p.A195V	ENST00000398665	NM_032482.2	195	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42460.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGCGGAGG	NONE	.	.	PROSITE_profiles:PS51569,hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,Pfam_domain:PF08123,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037123,Superfamily_domains:SSF53335	.	.	ENSP00000381657	.	6/28	.	.	.	.	.	.	.	.	rs757113225	6/28	PASS	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,missense_variant,p.Ala171Val,ENST00000452696,;DOT1L,missense_variant,p.Ala195Val,ENST00000398665,;DOT1L,non_coding_transcript_exon_variant,,ENST00000609690,;DOT1L,downstream_gene_variant,,ENST00000478937,;	620	51	24	SUCCESS
ZNF208	7757	.	GRCh37	19	22155265	22155265	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	49	0	ENST00000397126.4:c.2571A>G	p.Gly857=	p.G857=	ENST00000397126	NM_007153.3	857	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS54240.1	2571	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTCCAGT	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,synonymous_variant,p.%3D,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	2720	49	37	SUCCESS
CTC-457E21.3	0	.	GRCh37	19	22786082	22786082	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	33	0	ENST00000600260.1:n.1763T>C		p.*588*	ENST00000600260				0	.	.	.	.	.	C	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE	.	GAGGGTTCTCC	NONE	.	492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408863	Transcript	.	.	ENSG00000221790	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC011467.1	Clone_based_ensembl_gene	.	.	.	SNV	AC011467.1,downstream_gene_variant,,ENST00000408863,;RN7SL860P,downstream_gene_variant,,ENST00000473738,;CTC-457E21.3,non_coding_transcript_exon_variant,,ENST00000600260,;CTC-457E21.6,non_coding_transcript_exon_variant,,ENST00000599738,;CTC-457E21.3,downstream_gene_variant,,ENST00000597408,;CTC-457E21.5,upstream_gene_variant,,ENST00000598658,;CTC-457E21.3,non_coding_transcript_exon_variant,,ENST00000596977,;CTC-457E21.5,upstream_gene_variant,,ENST00000594891,;	.	33	38	SUCCESS
ZNF492	57615	.	GRCh37	19	22836161	22836161	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	102	326	0	ENST00000456783.2:c.-41A>G		p.*14*	ENST00000456783	NM_020855.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAATGCC	NONE	.	.	.	.	.	ENSP00000413660	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,5_prime_UTR_variant,,ENST00000456783,;	204	326	353	SUCCESS
ZNF492	57615	.	GRCh37	19	22847569	22847569	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	255	147	421	0	ENST00000456783.2:c.1098A>C	p.Lys366Asn	p.K366N	ENST00000456783	NM_020855.2	366	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS46032.1	1098	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TACAAATGTGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000413660	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.894)	.	deleterious(0.02)	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,missense_variant,p.Lys366Asn,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	1342	422	402	SUCCESS
LINGO3	645191	.	GRCh37	19	2290416	2290416	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1287949527	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	10	23	0	ENST00000585527.1:c.1360G>A	p.Ala454Thr	p.A454T	ENST00000585527		454	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45905.1	1360	RADIA|MUTECT|MUSE	.	GCCCGCGCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24371:SF61,hmmpanther:PTHR24371,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467753	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000585527	Transcript	.	.	ENSG00000220008	21206	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.63)	.	LIGO3_HUMAN	LINGO3	HGNC	.	.	UPI00000497E2	SNV	LINGO3,missense_variant,p.Ala454Thr,ENST00000404279,;LINGO3,missense_variant,p.Ala454Thr,ENST00000585527,;	1608	23	12	SUCCESS
DIRAS1	148252	.	GRCh37	19	2717762	2717762	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	40	0	ENST00000323469.4:c.43del	p.Ala15ArgfsTer14	p.A15Rfs*14	ENST00000323469	NM_145173.3	15	Gcg/cg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS12092.1	43	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCCCGCCCCGA	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF213,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000325836	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000323469	Transcript	.	.	ENSG00000176490	19127	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DIRA1_HUMAN	DIRAS1	HGNC	K7EN06_HUMAN	.	UPI000000D876	deletion	DIRAS1,frameshift_variant,p.Ala15ArgfsTer14,ENST00000588128,;DIRAS1,frameshift_variant,p.Ala15ArgfsTer14,ENST00000323469,;DIRAS1,frameshift_variant,p.Ala15ArgfsTer14,ENST00000585334,;AC006538.4,downstream_gene_variant,,ENST00000586572,;	227	40	37	SUCCESS
POP4	10775	.	GRCh37	19	30101413	30101413	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1259772679	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	6	140	0	ENST00000585603.1:c.158G>A	p.Arg53His	p.R53H	ENST00000585603		53	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12416.1	158	MUTECT|MUSE	.	GCAGCGCAAGG	NONE	.	.	hmmpanther:PTHR13348,PIRSF_domain:PIRSF027081	.	.	ENSP00000465213	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000585603	Transcript	.	.	ENSG00000105171	30081	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.37)	.	RPP29_HUMAN	POP4	HGNC	.	.	UPI0000034DFA	SNV	POP4,missense_variant,p.Arg53His,ENST00000585603,;POP4,missense_variant,p.Arg82His,ENST00000590688,;POP4,missense_variant,p.Arg53His,ENST00000586420,;POP4,intron_variant,,ENST00000392279,;POP4,intron_variant,,ENST00000221770,;POP4,non_coding_transcript_exon_variant,,ENST00000586136,;POP4,non_coding_transcript_exon_variant,,ENST00000592759,;POP4,non_coding_transcript_exon_variant,,ENST00000591824,;POP4,3_prime_UTR_variant,,ENST00000586823,;POP4,non_coding_transcript_exon_variant,,ENST00000588551,;POP4,intron_variant,,ENST00000591061,;POP4,downstream_gene_variant,,ENST00000586173,;POP4,upstream_gene_variant,,ENST00000587232,;POP4,upstream_gene_variant,,ENST00000592749,;	2460	140	143	SUCCESS
URI1	8725	.	GRCh37	19	30503420	30503420	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	85	0	ENST00000392271.1:c.1179C>A	p.Pro393=	p.P393=	ENST00000392271	NM_003796.3	393	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12420.1	1407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCTTATC	NONE	.	.	hmmpanther:PTHR15111:SF0,hmmpanther:PTHR15111	.	.	ENSP00000442436	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000542441	Transcript	.	.	ENSG00000105176	13236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RMP_HUMAN	URI1	HGNC	I3NI51_HUMAN,I3L2V7_HUMAN,I3L130_HUMAN,I3L104_HUMAN	.	UPI00001604C8	SNV	URI1,synonymous_variant,p.%3D,ENST00000312051,;URI1,synonymous_variant,p.%3D,ENST00000392271,;URI1,synonymous_variant,p.%3D,ENST00000575242,;URI1,synonymous_variant,p.%3D,ENST00000542441,;URI1,synonymous_variant,p.%3D,ENST00000573052,;URI1,synonymous_variant,p.%3D,ENST00000360605,;URI1,downstream_gene_variant,,ENST00000576442,;URI1,downstream_gene_variant,,ENST00000570704,;URI1,downstream_gene_variant,,ENST00000574176,;URI1,3_prime_UTR_variant,,ENST00000574110,;	1704	85	102	SUCCESS
CEP89	84902	.	GRCh37	19	33450938	33450938	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs187160603	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	108	0	ENST00000305768.5:c.173C>T	p.Ala58Val	p.A58V	ENST00000305768	NM_032816.3	58	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32987.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCGCCAGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	.	.	ENSP00000306105	.	3/19	.	.	.	.	.	.	.	.	rs187160603,COSM3388841	3/19	PASS	ENST00000305768	Transcript	1	.	ENSG00000121289	25907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.897)	.	tolerated(0.19)	0,1	CEP89_HUMAN	CEP89	HGNC	.	.	UPI000020202C	SNV	CEP89,missense_variant,p.Ala58Val,ENST00000590597,;CEP89,missense_variant,p.Ala30Val,ENST00000593276,;CEP89,missense_variant,p.Ala58Val,ENST00000305768,;CEP89,missense_variant,p.Ala58Val,ENST00000586984,;CEP89,upstream_gene_variant,,ENST00000591698,;RPL31P60,upstream_gene_variant,,ENST00000478450,;	262	108	106	SUCCESS
WDR88	126248	.	GRCh37	19	33663288	33663288	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	55	154	0	ENST00000355868.3:c.1184T>A	p.Ile395Asn	p.I395N	ENST00000355868	NM_173479.3	395	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS12429.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATTGATG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF391,Superfamily_domains:SSF50998	.	.	ENSP00000348129	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000355868	Transcript	.	.	ENSG00000166359	26999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.453)	.	deleterious(0.01)	.	WDR88_HUMAN	WDR88	HGNC	.	.	UPI0000456C8B	SNV	WDR88,missense_variant,p.Ile395Asn,ENST00000355868,;WDR88,missense_variant,p.Ile395Asn,ENST00000361680,;AC008738.2,upstream_gene_variant,,ENST00000577275,;	1260	155	158	SUCCESS
CHST8	64377	.	GRCh37	19	34263780	34263780	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs557313187	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	37	91	0	ENST00000262622.4:c.1087C>T	p.Arg363Cys	p.R363C	ENST00000262622	NM_022467.3	363	Cgc/Tgc	0	.	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS12433.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCGCGCG	NONE	by1000G	.	Pfam_domain:PF03567,hmmpanther:PTHR12137:SF7,hmmpanther:PTHR12137	T:0	.	ENSP00000262622	T:0	4/4	.	.	.	.	.	.	.	.	rs557313187	4/4	PASS	ENST00000262622	Transcript	1	T:0.0002	ENSG00000124302	15993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	T:0	deleterious(0)	.	CHST8_HUMAN	CHST8	HGNC	K7ENM3_HUMAN	.	UPI000006F966	SNV	CHST8,missense_variant,p.Arg363Cys,ENST00000438847,;CHST8,missense_variant,p.Arg363Cys,ENST00000262622,;CHST8,missense_variant,p.Arg363Cys,ENST00000434302,;CHST8,downstream_gene_variant,,ENST00000591231,;	1845	91	85	SUCCESS
UBA2	10054	.	GRCh37	19	34949675	34949675	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	13	168	0	ENST00000246548.4:c.1253del	p.Leu418Ter	p.L418*	ENST00000246548	NM_005499.2	416	aTt/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS12439.1	1247	INDELOCATOR*|PINDEL	.	CAAAGATTTTTT	NONE	.	.	hmmpanther:PTHR10953,Gene3D:3.40.50.720,Superfamily_domains:SSF69572	.	.	ENSP00000246548	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000246548	Transcript	.	.	ENSG00000126261	30661	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAE2_HUMAN	UBA2	HGNC	U3KQ93_HUMAN,B3KWB9_HUMAN	.	UPI000004F09F	deletion	UBA2,frameshift_variant,p.Leu322Ter,ENST00000439527,;UBA2,frameshift_variant,p.Leu418Ter,ENST00000246548,;UBA2,5_prime_UTR_variant,,ENST00000592791,;UBA2,intron_variant,,ENST00000591016,;UBA2,splice_region_variant,,ENST00000586313,;	1317	168	154	SUCCESS
ATP4A	495	.	GRCh37	19	36046611	36046611	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs898108443	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	73	0	ENST00000262623.3:c.1973G>A	p.Arg658His	p.R658H	ENST00000262623	NM_000704.2	658	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12467.1	1973	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGGGCA	NONE	.	.	Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	.	.	ENSP00000262623	.	13/22	.	.	.	.	.	.	.	.	COSM4077067	13/22	PASS	ENST00000262623	Transcript	.	.	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Arg658His,ENST00000262623,;ATP4A,3_prime_UTR_variant,,ENST00000592767,;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,;	2002	73	56	SUCCESS
KMT2B	9757	.	GRCh37	19	36223002	36223002	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	85	0	ENST00000222270.7:c.5636del	p.Gly1879ValfsTer16	p.G1879Vfs*16	ENST00000222270	NM_014727.1	1877	ttG/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS46055.1	5631	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCTTGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	27/37	.	.	.	.	.	.	.	.	COSM187985	27/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	5	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	deletion	KMT2B,frameshift_variant,p.Gly1879ValfsTer16,ENST00000420124,;KMT2B,frameshift_variant,p.Gly1879ValfsTer16,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	5631	85	79	SUCCESS
KIRREL2	84063	.	GRCh37	19	36357195	36357195	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	59	0	ENST00000360202.5:c.1928A>G	p.Asn643Ser	p.N643S	ENST00000360202	NM_032123.5	643	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12481.1	1928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAACCCAC	NONE	.	.	hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51	.	.	ENSP00000353331	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000360202	Transcript	.	.	ENSG00000126259	18816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.79)	.	KIRR2_HUMAN	KIRREL2	HGNC	.	.	UPI0000366DD8	SNV	KIRREL2,missense_variant,p.Asn608Ser,ENST00000592409,;KIRREL2,missense_variant,p.Asn643Ser,ENST00000360202,;KIRREL2,intron_variant,,ENST00000262625,;KIRREL2,intron_variant,,ENST00000347900,;APLP1,upstream_gene_variant,,ENST00000592316,;APLP1,upstream_gene_variant,,ENST00000589743,;APLP1,upstream_gene_variant,,ENST00000221891,;APLP1,upstream_gene_variant,,ENST00000586861,;APLP1,upstream_gene_variant,,ENST00000537454,;NPHS1,intron_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000590561,;	2126	59	76	SUCCESS
COX7A1	1346	.	GRCh37	19	36643532	36643532	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	20	0	ENST00000292907.3:c.-223G>A		p.*75*	ENST00000292907	NM_001864.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGCGCGCA	NONE	.	.	.	.	.	ENSP00000292907	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000292907	Transcript	.	.	ENSG00000161281	2287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX7A1_HUMAN	COX7A1	HGNC	U3KQH8_HUMAN,Q6FGI7_HUMAN,H6SG12_HUMAN	.	UPI0000048D61	SNV	COX7A1,5_prime_UTR_variant,,ENST00000292907,;CAPNS1,downstream_gene_variant,,ENST00000588815,;CAPNS1,downstream_gene_variant,,ENST00000587718,;CAPNS1,downstream_gene_variant,,ENST00000588780,;CAPNS1,downstream_gene_variant,,ENST00000590211,;CAPNS1,downstream_gene_variant,,ENST00000246533,;COX7A1,upstream_gene_variant,,ENST00000437291,;CAPNS1,downstream_gene_variant,,ENST00000590874,;COX7A1,upstream_gene_variant,,ENST00000589154,;CAPNS1,downstream_gene_variant,,ENST00000586851,;CAPNS1,downstream_gene_variant,,ENST00000589146,;AD001527.7,upstream_gene_variant,,ENST00000604228,;CAPNS1,downstream_gene_variant,,ENST00000589162,;CAPNS1,downstream_gene_variant,,ENST00000590049,;COX7A1,upstream_gene_variant,,ENST00000481297,;	240	20	22	SUCCESS
ZNF461	92283	.	GRCh37	19	37130266	37130266	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs747975044	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	111	0	ENST00000588268.1:c.981A>C	p.Lys327Asn	p.K327N	ENST00000588268	NM_153257.2	327	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS54257.1	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGTTTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF277,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000467931	.	6/6	.	.	.	.	.	.	.	.	rs747975044	6/6	PASS	ENST00000588268	Transcript	.	.	ENSG00000197808	21629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN461_HUMAN	ZNF461	HGNC	K7EJM1_HUMAN,K7EIW1_HUMAN	.	UPI00002021CA	SNV	ZNF461,missense_variant,p.Lys304Asn,ENST00000360357,;ZNF461,missense_variant,p.Lys327Asn,ENST00000588268,;ZNF461,downstream_gene_variant,,ENST00000591370,;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000590361,;ZNF461,downstream_gene_variant,,ENST00000588844,;	1209	111	95	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38573540	38573540	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	90	0	ENST00000222345.6:c.1335C>T	p.Ser445=	p.S445=	ENST00000222345	NM_015073.1	445	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33007.1	1335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCCGGGC	NONE	.	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	.	.	ENSP00000222345	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,synonymous_variant,p.%3D,ENST00000222345,;SIPA1L3,upstream_gene_variant,,ENST00000595982,;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	1844	90	80	SUCCESS
FAM98C	147965	.	GRCh37	19	38893823	38893823	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	48	115	0	ENST00000252530.5:c.34del	p.Ala12ProfsTer56	p.A12Pfs*56	ENST00000252530	NM_174905.3	10	gaG/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS42562.1	30	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGGAGGGGGC	NONE	.	.	hmmpanther:PTHR31353:SF7,hmmpanther:PTHR31353	.	.	ENSP00000252530	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000252530	Transcript	.	.	ENSG00000130244	27119	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA98C_HUMAN	FAM98C	HGNC	.	.	UPI000059D713	deletion	FAM98C,frameshift_variant,p.Ala12ProfsTer56,ENST00000343358,;FAM98C,frameshift_variant,p.Ala12ProfsTer56,ENST00000588262,;FAM98C,frameshift_variant,p.Ala12ProfsTer56,ENST00000252530,;FAM98C,frameshift_variant,p.Gly7AlafsTer12,ENST00000589408,;AC005789.11,downstream_gene_variant,,ENST00000588453,;FAM98C,upstream_gene_variant,,ENST00000585954,;FAM98C,non_coding_transcript_exon_variant,,ENST00000588348,;FAM98C,upstream_gene_variant,,ENST00000592992,;FAM98C,upstream_gene_variant,,ENST00000589027,;FAM98C,upstream_gene_variant,,ENST00000589029,;FAM98C,upstream_gene_variant,,ENST00000586372,;	49	115	148	SUCCESS
MAP4K1	11184	.	GRCh37	19	39096218	39096218	+	synonymous_variant	Silent	SNP	G	G	A	rs777831904	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	102	0	ENST00000591517.1:c.1353C>T	p.Thr451=	p.T451=	ENST00000591517	NM_007181.4	451	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS59385.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGGTGAG	NONE	.	.	hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172	.	.	ENSP00000465039	.	18/32	.	.	.	.	.	.	.	.	rs777831904	18/32	PASS	ENST00000591517	Transcript	.	.	ENSG00000104814	6863	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4K1_HUMAN	MAP4K1	HGNC	.	.	UPI00000747ED	SNV	MAP4K1,synonymous_variant,p.%3D,ENST00000396857,;MAP4K1,synonymous_variant,p.%3D,ENST00000589130,;MAP4K1,synonymous_variant,p.%3D,ENST00000591517,;MAP4K1,synonymous_variant,p.%3D,ENST00000423454,;MAP4K1,synonymous_variant,p.%3D,ENST00000591921,;MAP4K1,intron_variant,,ENST00000586296,;CTB-186G2.1,downstream_gene_variant,,ENST00000589557,;MAP4K1,downstream_gene_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;	1382	102	78	SUCCESS
HNRNPL	3191	.	GRCh37	19	39329068	39329068	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749828786	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	34	70	0	ENST00000221419.5:c.1526C>T	p.Pro509Leu	p.P509L	ENST00000221419	NM_001533.2	509	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33015.1	1526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGGGGCG	NONE	.	.	hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF19,TIGRFAM_domain:TIGR01649,Gene3D:3.30.70.330	.	.	ENSP00000221419	.	10/13	.	.	.	.	.	.	.	.	rs749828786	10/13	PASS	ENST00000221419	Transcript	.	.	ENSG00000104824	5045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0)	.	HNRPL_HUMAN	HNRNPL	HGNC	Q6NTA2_HUMAN	.	UPI00004432FA	SNV	HNRNPL,missense_variant,p.Pro376Leu,ENST00000600873,;HNRNPL,missense_variant,p.Pro450Leu,ENST00000601449,;HNRNPL,missense_variant,p.Pro509Leu,ENST00000221419,;AC104534.3,missense_variant,p.Pro126Leu,ENST00000594769,;AC104534.3,intron_variant,,ENST00000602021,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595443,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,downstream_gene_variant,,ENST00000601664,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,upstream_gene_variant,,ENST00000595804,;	1893	70	95	SUCCESS
SELV	0	.	GRCh37	19	40009252	40009252	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	116	0	ENST00000335426.4:c.814C>A	p.Leu272Ile	p.L272I	ENST00000335426	NM_182704.1	272	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS54266.1	814	MUTECT|MUSE	.	GTGGCCTCTGA	NONE	.	.	hmmpanther:PTHR15124:SF17,hmmpanther:PTHR15124,TIGRFAM_domain:TIGR02174,Gene3D:3.40.30.10,Pfam_domain:PF10262,Superfamily_domains:SSF52833	.	.	ENSP00000333956	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000335426	Transcript	.	.	ENSG00000186838	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.112)	.	deleterious(0.03)	.	SELV_HUMAN	SELV	Uniprot_gn	.	.	UPI00001B2974	SNV	SELV,missense_variant,p.Leu272Ile,ENST00000335426,;SELV,splice_region_variant,,ENST00000423711,;SELV,intron_variant,,ENST00000600586,;SELV,intron_variant,,ENST00000597876,;	914	116	89	SUCCESS
ADCK4	0	.	GRCh37	19	41219998	41219998	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781221940	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	26	136	0	ENST00000324464.3:c.263G>A	p.Arg88His	p.R88H	ENST00000324464	NM_024876.3	88	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12562.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCGGGAG	NONE	byFrequency	.	hmmpanther:PTHR10566:SF22,hmmpanther:PTHR10566	.	.	ENSP00000315118	.	4/15	.	.	.	.	.	.	.	.	rs781221940	4/15	PASS	ENST00000324464	Transcript	1	.	ENSG00000123815	19041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0.01)	.	ADCK4_HUMAN	ADCK4	HGNC	M0R3F7_HUMAN,M0R340_HUMAN,M0R307_HUMAN,M0R011_HUMAN,M0R001_HUMAN,M0QZZ2_HUMAN	.	UPI0000071B0F	SNV	ADCK4,missense_variant,p.Arg88His,ENST00000243583,;ADCK4,missense_variant,p.Arg88His,ENST00000600707,;ADCK4,missense_variant,p.Arg88His,ENST00000450541,;ADCK4,missense_variant,p.Arg88His,ENST00000594084,;ADCK4,missense_variant,p.Arg88His,ENST00000594720,;ADCK4,missense_variant,p.Arg88His,ENST00000594490,;ADCK4,missense_variant,p.Arg88His,ENST00000324464,;ADCK4,missense_variant,p.Arg88His,ENST00000601967,;ADCK4,missense_variant,p.Arg88His,ENST00000596357,;ADCK4,5_prime_UTR_variant,,ENST00000595254,;ADCK4,5_prime_UTR_variant,,ENST00000600080,;ITPKC,upstream_gene_variant,,ENST00000263370,;ADCK4,downstream_gene_variant,,ENST00000593723,;ADCK4,3_prime_UTR_variant,,ENST00000601304,;ADCK4,non_coding_transcript_exon_variant,,ENST00000596455,;ADCK4,non_coding_transcript_exon_variant,,ENST00000601451,;ADCK4,non_coding_transcript_exon_variant,,ENST00000593544,;ADCK4,intron_variant,,ENST00000599643,;	565	136	130	SUCCESS
SNRPA	6626	.	GRCh37	19	41268862	41268862	+	synonymous_variant	Silent	SNP	G	G	A	rs374030639	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	7	112	0	ENST00000243563.3:c.483G>A	p.Pro161=	p.P161=	ENST00000243563	NM_004596.4	161	ccG/ccA	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS12565.1	483	MUTECT|MUSE	.	CAGCCGCCCTA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10501	.	A:0.0001	ENSP00000243563	.	4/6	.	.	.	.	.	.	.	.	rs374030639	4/6	PASS	ENST00000243563	Transcript	.	.	ENSG00000077312	11151	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNRPA_HUMAN	SNRPA	HGNC	M0R2B8_HUMAN,M0R221_HUMAN,M0QZG7_HUMAN	.	UPI000002C8F2	SNV	SNRPA,synonymous_variant,p.%3D,ENST00000601545,;SNRPA,synonymous_variant,p.%3D,ENST00000243563,;SNRPA,synonymous_variant,p.%3D,ENST00000601393,;SNRPA,downstream_gene_variant,,ENST00000599362,;SNRPA,downstream_gene_variant,,ENST00000601253,;SNRPA,downstream_gene_variant,,ENST00000597353,;SNRPA,downstream_gene_variant,,ENST00000599570,;SNRPA,non_coding_transcript_exon_variant,,ENST00000598923,;SNRPA,upstream_gene_variant,,ENST00000596860,;SNRPA,downstream_gene_variant,,ENST00000598452,;SNRPA,downstream_gene_variant,,ENST00000600456,;	1033	112	138	SUCCESS
EGLN2	112398	.	GRCh37	19	41307129	41307129	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140368149	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	111	0	ENST00000303961.4:c.652C>T	p.Arg218Cys	p.R218C	ENST00000303961	NM_080732.3	218	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS12567.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGCCTG	NONE	byCluster	.	hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF6,SMART_domains:SM00702	.	T:0.0001	ENSP00000469686	.	1/5	.	.	.	.	.	.	.	.	rs140368149	1/5	PASS	ENST00000593726	Transcript	.	.	ENSG00000269858	14660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious(0.03)	.	EGLN2_HUMAN	EGLN2	HGNC	M0R2X9_HUMAN,M0R1W4_HUMAN,M0R1A3_HUMAN,M0R110_HUMAN,M0R0Z6_HUMAN,M0R035_HUMAN,M0QXR0_HUMAN,M0QXM8_HUMAN	.	UPI0000050C8F	SNV	EGLN2,missense_variant,p.Arg218Cys,ENST00000593726,;EGLN2,missense_variant,p.Arg218Cys,ENST00000406058,;EGLN2,missense_variant,p.Arg218Cys,ENST00000303961,;EGLN2,downstream_gene_variant,,ENST00000593972,;EGLN2,downstream_gene_variant,,ENST00000594380,;EGLN2,downstream_gene_variant,,ENST00000593525,;EGLN2,downstream_gene_variant,,ENST00000598654,;RAB4B,downstream_gene_variant,,ENST00000357052,;EGLN2,upstream_gene_variant,,ENST00000597746,;EGLN2,downstream_gene_variant,,ENST00000596517,;EGLN2,upstream_gene_variant,,ENST00000594140,;RAB4B,downstream_gene_variant,,ENST00000595728,;EGLN2,downstream_gene_variant,,ENST00000601733,;EGLN2,downstream_gene_variant,,ENST00000593397,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000601949,;RAB4B-EGLN2,3_prime_UTR_variant,,ENST00000594136,;CTC-490E21.12,upstream_gene_variant,,ENST00000601627,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000596216,;EGLN2,upstream_gene_variant,,ENST00000599579,;RAB4B,downstream_gene_variant,,ENST00000598430,;RAB4B,downstream_gene_variant,,ENST00000378307,;RAB4B,downstream_gene_variant,,ENST00000597476,;EGLN2,upstream_gene_variant,,ENST00000593445,;	1680	111	115	SUCCESS
CEACAM5	1048	.	GRCh37	19	42224866	42224866	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782698410	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	57	138	1	ENST00000221992.6:c.1802del	p.Pro601GlnfsTer68	p.P601Qfs*68	ENST00000221992	NM_004363.2	599	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS12584.1	1796	INDELOCATOR|VARSCANI	.	TCATTTCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000221992	.	8/10	.	.	.	.	.	.	.	.	COSM3227472	8/10	PASS	ENST00000221992	Transcript	.	.	ENSG00000105388	1817	6	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CEAM5_HUMAN	CEACAM5	HGNC	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI000013C7E5	deletion	CEACAM5,frameshift_variant,p.Pro601GlnfsTer68,ENST00000221992,;CEACAM5,frameshift_variant,p.Pro600GlnfsTer68,ENST00000398599,;CEACAM5,frameshift_variant,p.Pro601GlnfsTer68,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000595403,;	1910	139	158	SUCCESS
GSK3A	2931	.	GRCh37	19	42744195	42744195	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	120	0	ENST00000222330.3:c.383G>A	p.Gly128Asp	p.G128D	ENST00000222330	NM_019884.2	128	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	.	122	RADIA|MUTECT|MUSE	.	ATGAGCCATTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24057,hmmpanther:PTHR24057:SF7,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000470087	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000594664	Transcript	.	.	ENSG00000268643	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	AC006486.9	Clone_based_vega_gene	M0QYV0_HUMAN	.	UPI0002A47252	SNV	AC006486.9,missense_variant,p.Gly41Asp,ENST00000594664,;GSK3A,missense_variant,p.Gly46Asp,ENST00000398249,;GSK3A,missense_variant,p.Gly128Asp,ENST00000222330,;AC006486.1,upstream_gene_variant,,ENST00000378108,;GSK3A,missense_variant,p.Gly128Asp,ENST00000453535,;	255	120	103	SUCCESS
MEGF8	1954	.	GRCh37	19	42879710	42879710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	93	0	ENST00000251268.6:c.7321T>C	p.Cys2441Arg	p.C2441R	ENST00000251268		2441	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS12604.2	7120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGTGCTAC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF241,hmmpanther:PTHR10574,SMART_domains:SM00181	.	.	ENSP00000334219	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Cys35Arg,ENST00000378073,;MEGF8,missense_variant,p.Cys2374Arg,ENST00000334370,;MEGF8,missense_variant,p.Cys2441Arg,ENST00000251268,;MEGF8,synonymous_variant,p.%3D,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,non_coding_transcript_exon_variant,,ENST00000599787,;	7755	94	75	SUCCESS
CNFN	84518	.	GRCh37	19	42893103	42893103	+	synonymous_variant	Silent	SNP	C	C	T	rs752854433	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	35	0	ENST00000222032.5:c.87G>A	p.Thr29=	p.T29=	ENST00000222032	NM_032488.3	29	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12606.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCCGTGAG	NONE	.	.	hmmpanther:PTHR15907:SF26,hmmpanther:PTHR15907,TIGRFAM_domain:TIGR01571,Pfam_domain:PF04749	.	.	ENSP00000222032	.	2/4	.	.	.	.	.	.	.	.	rs752854433	2/4	PASS	ENST00000222032	Transcript	.	.	ENSG00000105427	30183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNFN_HUMAN	CNFN	HGNC	.	.	UPI0000073E14	SNV	CNFN,synonymous_variant,p.%3D,ENST00000597255,;CNFN,synonymous_variant,p.%3D,ENST00000222032,;	137	35	36	SUCCESS
LIPE	3991	.	GRCh37	19	42912244	42912244	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201302932	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	62	0	ENST00000244289.4:c.1540G>A	p.Gly514Ser	p.G514S	ENST00000244289	NM_005357.2	514	Ggc/Agc	0	T:0.0002	T:0	.	T:0	.	T	G/S	protein_coding	YES	CCDS12607.1	1540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCGCTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3,Pfam_domain:PF06350	T:0.001	T:0	ENSP00000244289	T:0	4/10	.	.	.	.	.	.	.	.	rs201302932,COSM3742982	4/10	PASS	ENST00000244289	Transcript	.	T:0.0002	ENSG00000079435	6621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	T:0	tolerated(0.1)	0,1	LIPS_HUMAN	LIPE	HGNC	M0QXM5_HUMAN,M0QXB1_HUMAN	.	UPI000013CB66	SNV	LIPE,missense_variant,p.Gly514Ser,ENST00000244289,;LIPE,missense_variant,p.Gly259Ser,ENST00000599783,;LIPE,upstream_gene_variant,,ENST00000597620,;LIPE,downstream_gene_variant,,ENST00000597001,;LIPE,upstream_gene_variant,,ENST00000599918,;LIPE,downstream_gene_variant,,ENST00000601189,;LIPE,downstream_gene_variant,,ENST00000599211,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE,non_coding_transcript_exon_variant,,ENST00000602000,;LIPE,upstream_gene_variant,,ENST00000600224,;	1817	62	65	SUCCESS
CEACAM8	1088	.	GRCh37	19	43093012	43093012	+	synonymous_variant	Silent	SNP	G	G	A	rs185392969	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	56	149	0	ENST00000244336.5:c.882C>T	p.Ser294=	p.S294=	ENST00000244336	NM_001816.3	294	agC/agT	0	.	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS12610.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGCTGTT	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF60,hmmpanther:PTHR19955,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0.001	.	ENSP00000244336	A:0	4/6	.	.	.	.	.	.	.	.	rs185392969,COSM190032	4/6	PASS	ENST00000244336	Transcript	.	A:0.0002	ENSG00000124469	1820	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	CEAM8_HUMAN	CEACAM8	HGNC	Q0Z7S6_HUMAN	.	UPI00000012A3	SNV	CEACAM8,synonymous_variant,p.%3D,ENST00000244336,;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;	984	149	138	SUCCESS
SHC2	25759	.	GRCh37	19	438994	438994	+	synonymous_variant	Silent	SNP	G	G	A	rs372414911	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	87	224	0	ENST00000264554.6:c.576C>T	p.Gly192=	p.G192=	ENST00000264554	NM_012435.2	192	ggC/ggT	0	A:0	.	.	.	.	A	G	protein_coding	YES	CCDS45891.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACGCCAGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS01179,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF5,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729,Prints_domain:PR00629	.	A:0.0002	ENSP00000264554	.	3/13	.	.	.	.	.	.	.	.	rs372414911	3/13	PASS	ENST00000264554	Transcript	.	.	ENSG00000129946	29869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHC2_HUMAN	SHC2	HGNC	.	.	UPI0000DD84C2	SNV	SHC2,synonymous_variant,p.%3D,ENST00000590113,;SHC2,synonymous_variant,p.%3D,ENST00000264554,;SHC2,upstream_gene_variant,,ENST00000591388,;SHC2,3_prime_UTR_variant,,ENST00000590222,;SHC2,non_coding_transcript_exon_variant,,ENST00000589922,;SHC2,upstream_gene_variant,,ENST00000590170,;	576	224	132	SUCCESS
SRRM5	100170229	.	GRCh37	19	44117933	44117934	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	rs771574818	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	66	0	ENST00000417606.1:c.1667_1668del	p.Glu556AlafsTer29	p.E556Afs*29	ENST00000417606	NM_001145641.1	554	GAg/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS46095.1	1660-1661	INDELOCATOR|VARSCANI	.	AGCGAGGAGAGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000476253	.	3/3	.	.	.	.	.	.	.	.	rs771574818	3/3	PASS	ENST00000607544	Transcript	.	.	ENSG00000226763	37248	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRRM5_HUMAN	SRRM5	HGNC	.	.	UPI000059D73E	deletion	SRRM5,frameshift_variant,p.Glu571AlafsTer29,ENST00000526798,;SRRM5,frameshift_variant,p.Glu556AlafsTer29,ENST00000417606,;SRRM5,frameshift_variant,p.Glu556AlafsTer29,ENST00000607544,;ZNF428,intron_variant,,ENST00000598676,;ZNF428,intron_variant,,ENST00000300811,;ZNF428,downstream_gene_variant,,ENST00000595304,;	1982-1983	66	76	SUCCESS
ZNF225	7768	.	GRCh37	19	44635386	44635386	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	24	116	1	ENST00000262894.6:c.619G>A	p.Asp207Asn	p.D207N	ENST00000262894	NM_013362.2	207	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS46100.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGATGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000262894	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000262894	Transcript	.	.	ENSG00000256294	13018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.498)	.	tolerated(0.22)	.	ZN225_HUMAN	ZNF225	HGNC	K7ERU6_HUMAN,K7ENA2_HUMAN	.	UPI000016960F	SNV	ZNF225,missense_variant,p.Asp207Asn,ENST00000262894,;ZNF225,missense_variant,p.Asp207Asn,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,;	899	117	107	SUCCESS
ZNF227	7770	.	GRCh37	19	44739561	44739561	+	synonymous_variant	Silent	SNP	C	C	T	rs755043400	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	76	0	ENST00000313040.7:c.978C>T	p.Cys326=	p.C326=	ENST00000313040	NM_182490.1	326	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS12636.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCGACAG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	rs755043400,COSM997860	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	SNV	ZNF227,synonymous_variant,p.%3D,ENST00000589005,;ZNF227,synonymous_variant,p.%3D,ENST00000313040,;ZNF227,synonymous_variant,p.%3D,ENST00000391961,;ZNF227,downstream_gene_variant,,ENST00000588394,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	1183	76	54	SUCCESS
ZNF235	9310	.	GRCh37	19	44791785	44791785	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	68	149	0	ENST00000291182.4:c.1803T>C	p.Cys601=	p.C601=	ENST00000291182	NM_004234.4	601	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS33048.1	1803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCACACTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF251,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000291182	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000291182	Transcript	.	.	ENSG00000159917	12866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN235_HUMAN	ZNF235	HGNC	.	.	UPI00002025C2	SNV	ZNF235,synonymous_variant,p.%3D,ENST00000291182,;ZNF235,intron_variant,,ENST00000589248,;ZNF235,intron_variant,,ENST00000589799,;ZNF235,downstream_gene_variant,,ENST00000591609,;ZNF235,non_coding_transcript_exon_variant,,ENST00000587921,;ZNF235,intron_variant,,ENST00000592844,;CTC-512J12.7,upstream_gene_variant,,ENST00000605717,;	1906	149	148	SUCCESS
APOE	348	.	GRCh37	19	45411140	45411140	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752790054	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	99	0	ENST00000252486.4:c.167G>A	p.Arg56His	p.R56H	ENST00000252486	NM_000041.2	56	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12647.1	167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGCTGGG	NONE	.	.	hmmpanther:PTHR18976:SF2,hmmpanther:PTHR18976,Gene3D:1.20.120.20	.	.	ENSP00000252486	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000252486	Transcript	1	.	ENSG00000130203	613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.04)	.	APOE_HUMAN	APOE	HGNC	Q6LBZ1_HUMAN,Q6LA97_HUMAN,J9ZVQ3_HUMAN,E9PEV4_HUMAN,E7ERP7_HUMAN	.	UPI0000044948	SNV	APOE,missense_variant,p.Arg56His,ENST00000252486,;APOE,missense_variant,p.Arg56His,ENST00000446996,;APOE,missense_variant,p.Arg56His,ENST00000425718,;APOE,missense_variant,p.Arg82His,ENST00000434152,;TOMM40,downstream_gene_variant,,ENST00000252487,;TOMM40,downstream_gene_variant,,ENST00000426677,;TOMM40,downstream_gene_variant,,ENST00000592434,;TOMM40,downstream_gene_variant,,ENST00000405636,;APOE,downstream_gene_variant,,ENST00000485628,;TOMM40,downstream_gene_variant,,ENST00000592041,;	278	99	98	SUCCESS
SEMA6B	10501	.	GRCh37	19	4548377	4548377	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145507498	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	55	113	0	ENST00000586582.1:c.1352C>T	p.Ala451Val	p.A451V	ENST00000586582	NM_032108.3	451	gCg/gTg	0	A:0.0005	.	.	.	.	A	A/V	protein_coding	YES	CCDS12131.1	1352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGCCTCA	NONE	byCluster	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	A:0	ENSP00000467290	.	13/17	.	.	.	.	.	.	.	.	rs145507498	13/17	PASS	ENST00000586582	Transcript	.	.	ENSG00000167680	10739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.32)	.	SEM6B_HUMAN	SEMA6B	HGNC	.	.	UPI000004BA6B	SNV	SEMA6B,missense_variant,p.Ala451Val,ENST00000586965,;SEMA6B,missense_variant,p.Ala451Val,ENST00000586582,;SEMA6B,missense_variant,p.Ala451Val,ENST00000301293,;RN7SL121P,downstream_gene_variant,,ENST00000584223,;SEMA6B,upstream_gene_variant,,ENST00000589889,;	1663	113	125	SUCCESS
GLTSCR1	0	.	GRCh37	19	48202008	48202008	+	synonymous_variant	Silent	SNP	C	C	T	rs371897707	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	62	0	ENST00000396720.3:c.3366C>T	p.Gly1122=	p.G1122=	ENST00000396720	NM_015711.3	1122	ggC/ggT	0	T:0.0003	.	.	.	.	T	G	protein_coding	YES	CCDS46134.1	3366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCGCCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15572:SF1,Pfam_domain:PF15249,hmmpanther:PTHR15572	.	T:0	ENSP00000379946	.	12/15	.	.	.	.	.	.	.	.	rs371897707	12/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,upstream_gene_variant,,ENST00000602258,;	3560	62	44	SUCCESS
ARRDC5	645432	.	GRCh37	19	4891359	4891359	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	53	0	ENST00000381781.2:c.728C>T	p.Ser243Phe	p.S243F	ENST00000381781	NM_001080523.1	243	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS45929.1	728	RADIA|MUTECT|MUSE	.	GCCGAGACCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11188:SF56,hmmpanther:PTHR11188,Gene3D:1g4mB02,Pfam_domain:PF02752,SMART_domains:SM01017,Superfamily_domains:SSF81296	.	.	ENSP00000371200	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381781	Transcript	.	.	ENSG00000205784	31407	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.32)	.	ARRD5_HUMAN	ARRDC5	HGNC	.	.	UPI0000DD84C9	SNV	ARRDC5,missense_variant,p.Ser243Phe,ENST00000381781,;AC027319.1,upstream_gene_variant,,ENST00000408608,;	728	53	44	SUCCESS
ARRDC5	645432	.	GRCh37	19	4891371	4891371	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	53	0	ENST00000381781.2:c.716C>A	p.Ala239Glu	p.A239E	ENST00000381781	NM_001080523.1	239	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS45929.1	716	RADIA|MUTECT|MUSE	.	GCTCTGCACTG	NONE	.	.	hmmpanther:PTHR11188:SF56,hmmpanther:PTHR11188,Gene3D:1g4mB02,Pfam_domain:PF02752,SMART_domains:SM01017,Superfamily_domains:SSF81296	.	.	ENSP00000371200	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381781	Transcript	.	.	ENSG00000205784	31407	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.233)	.	deleterious(0.04)	.	ARRD5_HUMAN	ARRDC5	HGNC	.	.	UPI0000DD84C9	SNV	ARRDC5,missense_variant,p.Ala239Glu,ENST00000381781,;AC027319.1,upstream_gene_variant,,ENST00000408608,;	716	53	47	SUCCESS
CA11	770	.	GRCh37	19	49148722	49148722	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	77	0	ENST00000084798.4:c.80C>T	p.Pro27Leu	p.P27L	ENST00000084798	NM_001217.3	27	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12729.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGGTCCG	NONE	.	.	hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF93	.	.	ENSP00000084798	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000084798	Transcript	.	.	ENSG00000063180	1370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious_low_confidence(0)	.	CAH11_HUMAN	CA11	HGNC	.	.	UPI000004C652	SNV	CA11,missense_variant,p.Pro27Leu,ENST00000084798,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;SEC1P,intron_variant,,ENST00000521217,;	760	77	82	SUCCESS
SEC1P	653677	.	GRCh37	19	49183645	49183645	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	31	0	ENST00000430145.2:n.732A>G		p.*244*	ENST00000430145				0	.	.	.	.	.	G	.	misc_RNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAACTACC	NONE	.	3647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000577762	Transcript	.	.	ENSG00000264835	46361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RN7SL345P	HGNC	.	.	.	SNV	RN7SL345P,upstream_gene_variant,,ENST00000577762,;SEC1P,non_coding_transcript_exon_variant,,ENST00000430145,;SEC1P,downstream_gene_variant,,ENST00000474419,;SEC1P,downstream_gene_variant,,ENST00000483163,;SEC1P,non_coding_transcript_exon_variant,,ENST00000521217,;SEC1P,non_coding_transcript_exon_variant,,ENST00000473944,;	.	31	35	SUCCESS
FUT1	2523	.	GRCh37	19	49254381	49254381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	132	0	ENST00000310160.3:c.158C>A	p.Ala53Asp	p.A53D	ENST00000310160	NM_000148.3	53	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS12733.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGCCACT	NONE	.	.	hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4,Pfam_domain:PF01531	.	.	ENSP00000312021	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310160	Transcript	1	.	ENSG00000174951	4012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	deleterious_low_confidence(0.03)	.	FUT1_HUMAN	FUT1	HGNC	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN	.	UPI00000338F8	SNV	FUT1,missense_variant,p.Ala53Asp,ENST00000310160,;FGF21,upstream_gene_variant,,ENST00000593756,;FGF21,upstream_gene_variant,,ENST00000222157,;IZUMO1,upstream_gene_variant,,ENST00000602105,;IZUMO1,upstream_gene_variant,,ENST00000332955,;FUT1,downstream_gene_variant,,ENST00000601931,;FUT1,downstream_gene_variant,,ENST00000601988,;FUT1,downstream_gene_variant,,ENST00000599826,;FUT1,downstream_gene_variant,,ENST00000597220,;IZUMO1,upstream_gene_variant,,ENST00000597553,;	1133	132	106	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49965147	49965147	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756830979	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	63	128	0	ENST00000293350.4:c.766C>T	p.Arg256Cys	p.R256C	ENST00000293350	NM_153329.3	256	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS12766.1	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGCGTGCC	NONE	byFrequency	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF113,Gene3D:3.40.605.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036490,Superfamily_domains:SSF53720	.	.	ENSP00000293350	.	7/17	.	.	.	.	.	.	.	.	rs756830979,COSM1395243	7/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	0,1	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,missense_variant,p.Arg256Cys,ENST00000293350,;ALDH16A1,missense_variant,p.Arg93Cys,ENST00000540132,;ALDH16A1,missense_variant,p.Arg91Cys,ENST00000433981,;ALDH16A1,intron_variant,,ENST00000455361,;ALDH16A1,downstream_gene_variant,,ENST00000598015,;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,upstream_gene_variant,,ENST00000599536,;ALDH16A1,upstream_gene_variant,,ENST00000600265,;	929	128	137	SUCCESS
SCAF1	58506	.	GRCh37	19	50156878	50156878	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753725912	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	88	0	ENST00000360565.3:c.3232G>T	p.Val1078Phe	p.V1078F	ENST00000360565	NM_021228.2	1078	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33074.1	3232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTGTCTCC	NONE	.	.	hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2	.	.	ENSP00000353769	.	7/11	.	.	.	.	.	.	.	.	rs753725912	7/11	PASS	ENST00000360565	Transcript	.	.	ENSG00000126461	30403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.203)	.	.	.	SFR19_HUMAN	SCAF1	HGNC	M0R3G4_HUMAN,M0R2L3_HUMAN	.	UPI0000071891	SNV	SCAF1,missense_variant,p.Val1078Phe,ENST00000360565,;SCAF1,downstream_gene_variant,,ENST00000598359,;	3356	88	74	SUCCESS
TBC1D17	79735	.	GRCh37	19	50391714	50391714	+	synonymous_variant	Silent	SNP	C	C	T	rs905393346	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	83	0	ENST00000221543.5:c.1780C>T	p.Leu594=	p.L594=	ENST00000221543	NM_024682.2	594	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12785.1	1780	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCTGGCC	NONE	.	.	hmmpanther:PTHR22957:SF228,hmmpanther:PTHR22957	.	.	ENSP00000221543	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000221543	Transcript	.	.	ENSG00000104946	25699	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBC17_HUMAN	TBC1D17	HGNC	Q96RQ7_HUMAN	.	UPI000013C7D2	SNV	TBC1D17,synonymous_variant,p.%3D,ENST00000535102,;TBC1D17,synonymous_variant,p.%3D,ENST00000221543,;IL4I1,downstream_gene_variant,,ENST00000341114,;TBC1D17,downstream_gene_variant,,ENST00000599049,;IL4I1,downstream_gene_variant,,ENST00000595948,;IL4I1,downstream_gene_variant,,ENST00000391826,;MIR4750,downstream_gene_variant,,ENST00000584564,;TBC1D17,3_prime_UTR_variant,,ENST00000594984,;TBC1D17,non_coding_transcript_exon_variant,,ENST00000600354,;TBC1D17,non_coding_transcript_exon_variant,,ENST00000596243,;IL4I1,downstream_gene_variant,,ENST00000601717,;	2079	83	67	SUCCESS
ZNF473	25888	.	GRCh37	19	50542425	50542425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	98	0	ENST00000270617.3:c.17T>C	p.Val6Ala	p.V6A	ENST00000270617	NM_015428.1	6	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33077.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTGACCC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF112,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000472808	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000595661	Transcript	.	.	ENSG00000142528	23239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	tolerated(0.17)	.	ZN473_HUMAN	ZNF473	HGNC	M0R032_HUMAN,M0QZY7_HUMAN,F8WEC7_HUMAN	.	UPI000006ED91	SNV	ZNF473,missense_variant,p.Val6Ala,ENST00000270617,;ZNF473,missense_variant,p.Val6Ala,ENST00000595661,;ZNF473,missense_variant,p.Val6Ala,ENST00000598809,;ZNF473,missense_variant,p.Val6Ala,ENST00000391821,;ZNF473,missense_variant,p.Val6Ala,ENST00000601364,;ZNF473,missense_variant,p.Val6Ala,ENST00000599155,;ZNF473,5_prime_UTR_variant,,ENST00000445728,;CTD-2126E3.3,downstream_gene_variant,,ENST00000599410,;CTD-2126E3.3,downstream_gene_variant,,ENST00000599914,;ZNF473,5_prime_UTR_variant,,ENST00000594968,;ZNF473,upstream_gene_variant,,ENST00000598802,;	512	98	70	SUCCESS
MYH14	79784	.	GRCh37	19	50794187	50794187	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759824498	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	52	108	0	ENST00000376970.2:c.4985G>A	p.Arg1662His	p.R1662H	ENST00000376970	NM_024729.3	1662	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS54295.1	5009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCACTC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000470298	.	36/43	.	.	.	.	.	.	.	.	rs759824498,COSM1395418	36/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.988)	.	deleterious(0)	0,1	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Arg1670His,ENST00000440075,;MYH14,missense_variant,p.Arg1670His,ENST00000601313,;MYH14,missense_variant,p.Arg1662His,ENST00000376970,;MYH14,missense_variant,p.Arg1629His,ENST00000596571,;MYH14,missense_variant,p.Arg1637His,ENST00000425460,;MYH14,missense_variant,p.Arg1637His,ENST00000598205,;MYH14,missense_variant,p.Arg1670His,ENST00000262269,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	5039	108	127	SUCCESS
POLD1	5424	.	GRCh37	19	50905061	50905061	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs754917939	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	71	0	ENST00000440232.2:c.347del	p.Pro116HisfsTer53	p.P116Hfs*53	ENST00000440232	NM_002691.3	115	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS12795.1	343	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGGGCCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF11	.	.	ENSP00000406046	.	4/27	.	.	.	.	.	.	.	.	rs754917939	4/27	PASS	ENST00000440232	Transcript	1	.	ENSG00000062822	9175	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPOD1_HUMAN	POLD1	HGNC	M0R2J2_HUMAN	.	UPI000007288E	deletion	POLD1,frameshift_variant,p.Pro116HisfsTer53,ENST00000595904,;POLD1,frameshift_variant,p.Pro116HisfsTer53,ENST00000440232,;POLD1,frameshift_variant,p.Pro116HisfsTer53,ENST00000601098,;POLD1,frameshift_variant,p.Pro116HisfsTer53,ENST00000599857,;POLD1,downstream_gene_variant,,ENST00000593887,;RN7SL324P,downstream_gene_variant,,ENST00000577945,;POLD1,frameshift_variant,p.Pro116HisfsTer53,ENST00000600859,;POLD1,non_coding_transcript_exon_variant,,ENST00000600746,;	396	71	80	SUCCESS
KDM4B	23030	.	GRCh37	19	5119732	5119732	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374489612	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	144	175	0	ENST00000159111.4:c.1184C>T	p.Thr395Met	p.T395M	ENST00000159111	NM_015015.2	395	aCg/aTg	0	T:0.0005	T:0.0015	.	T:0	.	T	T/M	protein_coding	YES	CCDS12138.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTACGGCTG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30	T:0	T:0	ENSP00000159111	T:0	11/23	.	.	.	.	.	.	.	.	rs374489612	11/23	PASS	ENST00000159111	Transcript	.	T:0.0004	ENSG00000127663	29136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0	.	.	KDM4B_HUMAN	KDM4B	HGNC	K7ES23_HUMAN	.	UPI00001C202B	SNV	KDM4B,missense_variant,p.Thr141Met,ENST00000588361,;KDM4B,missense_variant,p.Thr429Met,ENST00000536461,;KDM4B,missense_variant,p.Thr395Met,ENST00000159111,;KDM4B,downstream_gene_variant,,ENST00000592159,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	1402	176	166	SUCCESS
KLK10	5655	.	GRCh37	19	51520382	51520382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	59	110	0	ENST00000309958.3:c.253G>A	p.Ala85Thr	p.A85T	ENST00000309958	NM_002776.4	85	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12817.1	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGCGGCCG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF36,PROSITE_patterns:PS00134,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000311746	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000309958	Transcript	.	.	ENSG00000129451	6358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KLK10_HUMAN	KLK10	HGNC	M0R132_HUMAN	.	UPI000013CCB0	SNV	KLK10,missense_variant,p.Ala85Thr,ENST00000391805,;KLK10,missense_variant,p.Ala85Thr,ENST00000599077,;KLK10,missense_variant,p.Ala85Thr,ENST00000309958,;KLK10,missense_variant,p.Ala85Thr,ENST00000358789,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;KLK10,5_prime_UTR_variant,,ENST00000601467,;KLK10,non_coding_transcript_exon_variant,,ENST00000599987,;	472	110	138	SUCCESS
KLK12	43849	.	GRCh37	19	51537801	51537801	+	intron_variant	Intron	SNP	A	A	T	rs566752253	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	38	0	ENST00000319590.4:c.37+40T>A		p.*13*	ENST00000319590	NM_145894.1			0	.	C:0.0008	.	C:0	.	T	.	protein_coding	YES	CCDS12820.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCAGTCGC	NONE	by1000G	.	.	C:0	.	ENSP00000250351	C:0	.	.	.	.	.	.	.	.	.	rs566752253	.	PASS	ENST00000250351	Transcript	.	C:0.0002	ENSG00000186474	6360	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	KLK12_HUMAN	KLK12	HGNC	.	.	UPI000002ACDD	SNV	KLK12,5_prime_UTR_variant,,ENST00000250352,;KLK12,intron_variant,,ENST00000529888,;KLK12,intron_variant,,ENST00000250351,;KLK12,intron_variant,,ENST00000525263,;KLK12,intron_variant,,ENST00000319590,;CTC-518B2.9,downstream_gene_variant,,ENST00000594910,;KLK12,missense_variant,p.Leu26Gln,ENST00000530943,;KLK12,missense_variant,p.Leu26Gln,ENST00000526824,;KLK12,intron_variant,,ENST00000531374,;	.	38	33	SUCCESS
VSIG10L	147645	.	GRCh37	19	51840531	51840531	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs890752848	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	48	117	0	ENST00000335624.4:c.2266C>T	p.Gln756Ter	p.Q756*	ENST00000335624	NM_001163922.1	756	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS54300.1	2266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGGCCCC	NONE	.	.	.	.	.	ENSP00000335623	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000335624	Transcript	.	.	ENSG00000186806	27111	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VS10L_HUMAN	VSIG10L	HGNC	.	.	UPI00001D8188	SNV	VSIG10L,stop_gained,p.Gln756Ter,ENST00000335624,;CTD-2616J11.16,upstream_gene_variant,,ENST00000601148,;CTD-2616J11.16,upstream_gene_variant,,ENST00000594311,;VSIG10L,3_prime_UTR_variant,,ENST00000600663,;	2266	117	119	SUCCESS
SIGLEC6	946	.	GRCh37	19	52034864	52034864	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	59	198	0	ENST00000425629.3:c.39A>G	p.Leu13=	p.L13=	ENST00000425629	NM_001245.5	13	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12834.3	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGTAGCAT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41	.	.	ENSP00000401502	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,synonymous_variant,p.%3D,ENST00000436458,;SIGLEC6,synonymous_variant,p.%3D,ENST00000391797,;SIGLEC6,synonymous_variant,p.%3D,ENST00000359982,;SIGLEC6,synonymous_variant,p.%3D,ENST00000425629,;SIGLEC6,synonymous_variant,p.%3D,ENST00000343300,;SIGLEC6,synonymous_variant,p.%3D,ENST00000346477,;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;	194	198	175	SUCCESS
PTPRS	5802	.	GRCh37	19	5221076	5221076	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	70	0	ENST00000357368.4:c.3390del	p.Lys1131SerfsTer27	p.K1131Sfs*27	ENST00000357368	NM_002850.3	1130	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS45930.1	3390	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCTTGGGGGC	NONE	.	.	Superfamily_domains:SSF49265,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134	.	.	ENSP00000349932	.	20/38	.	.	.	.	.	.	.	.	COSM1685766	20/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	deletion	PTPRS,frameshift_variant,p.Lys700SerfsTer27,ENST00000353284,;PTPRS,frameshift_variant,p.Lys1131SerfsTer27,ENST00000587303,;PTPRS,frameshift_variant,p.Lys1132SerfsTer27,ENST00000372412,;PTPRS,frameshift_variant,p.Lys1109SerfsTer27,ENST00000588012,;PTPRS,frameshift_variant,p.Lys1127SerfsTer27,ENST00000262963,;PTPRS,frameshift_variant,p.Lys1131SerfsTer27,ENST00000357368,;PTPRS,frameshift_variant,p.Lys700SerfsTer27,ENST00000592099,;PTPRS,frameshift_variant,p.Lys1109SerfsTer27,ENST00000348075,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;PTPRS,upstream_gene_variant,,ENST00000589851,;	3624	70	58	SUCCESS
ZNF841	284371	.	GRCh37	19	52569919	52569919	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	47	91	0	ENST00000426391.2:c.868T>C	p.Cys290Arg	p.C290R	ENST00000426391		290	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS46161.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACATTCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,missense_variant,p.Cys302Arg,ENST00000601738,;ZNF841,missense_variant,p.Cys406Arg,ENST00000389534,;ZNF841,missense_variant,p.Cys290Arg,ENST00000426391,;ZNF841,missense_variant,p.Cys290Arg,ENST00000359973,;ZNF841,missense_variant,p.Cys406Arg,ENST00000594295,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	1676	91	106	SUCCESS
ZNF578	147660	.	GRCh37	19	53014578	53014578	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1458387547	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	67	150	0	ENST00000421239.2:c.944A>G	p.Tyr315Cys	p.Y315C	ENST00000421239	NM_001099694.1	315	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS54310.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTACAAGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50157	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.02)	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Tyr315Cys,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;	1188	150	167	SUCCESS
LILRB3	11025	.	GRCh37	19	54721271	54721271	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	46	206	0	ENST00000245620.9:c.1669G>A	p.Ala557Thr	p.A557T	ENST00000245620		557	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46175.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCCATTT	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32	.	.	ENSP00000245620	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.18)	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,missense_variant,p.Ala556Thr,ENST00000424807,;LILRB3,missense_variant,p.Ala573Thr,ENST00000407860,;LILRA6,missense_variant,p.Ala557Thr,ENST00000270464,;LILRB3,missense_variant,p.Ala556Thr,ENST00000391750,;LILRA6,missense_variant,p.Ala556Thr,ENST00000440558,;LILRA6,missense_variant,p.Ala557Thr,ENST00000419410,;LILRB3,missense_variant,p.Ala557Thr,ENST00000245620,;LILRB3,missense_variant,p.Ala568Thr,ENST00000346401,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRB3,downstream_gene_variant,,ENST00000445347,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000460208,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000436504,;LILRB3,downstream_gene_variant,,ENST00000468668,;	1671	206	190	SUCCESS
LENG8	114823	.	GRCh37	19	54967527	54967527	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	59	0	ENST00000326764.5:c.1328G>A	p.Ser443Asn	p.S443N	ENST00000326764	NM_052925.2	443	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS12894.1	1328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated(0.2)	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,missense_variant,p.Ser443Asn,ENST00000326764,;LENG8,missense_variant,p.Ser443Asn,ENST00000431846,;LENG8,missense_variant,p.Ser406Asn,ENST00000376526,;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,downstream_gene_variant,,ENST00000462541,;	1807	59	53	SUCCESS
LILRA2	11027	.	GRCh37	19	55087325	55087325	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs537955715	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	48	112	0	ENST00000251377.3:c.1007del	p.Pro336GlnfsTer5	p.P336Qfs*5	ENST00000251377		335	gCc/gc	0	.	T:0	.	T:0	.	-	A/X	protein_coding	YES	CCDS46179.1	1004	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTAGCCCCAG	NONE	by1000G	.	hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF001979,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0.001	.	ENSP00000251377	T:0	7/9	.	.	.	.	.	.	.	.	rs537955715	7/9	PASS	ENST00000251377	Transcript	.	T:0.0002	ENSG00000239998	6603	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	deletion	LILRA2,frameshift_variant,p.Pro336GlnfsTer5,ENST00000251376,;LILRA2,frameshift_variant,p.Pro336GlnfsTer5,ENST00000391738,;LILRA2,frameshift_variant,p.Pro324GlnfsTer5,ENST00000391737,;LILRA2,frameshift_variant,p.Pro336GlnfsTer5,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	1137	112	178	SUCCESS
EPS8L1	54869	.	GRCh37	19	55591068	55591068	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373089208	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	100	0	ENST00000201647.6:c.128C>T	p.Thr43Met	p.T43M	ENST00000201647	NM_133180.2	43	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS12914.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACGTTCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19,Pfam_domain:PF08416,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	T:0.0001	ENSP00000201647	.	5/20	.	.	.	.	.	.	.	.	rs373089208	5/20	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,missense_variant,p.Thr25Met,ENST00000586329,;EPS8L1,missense_variant,p.Thr43Met,ENST00000201647,;EPS8L1,5_prime_UTR_variant,,ENST00000540810,;EPS8L1,upstream_gene_variant,,ENST00000588359,;EPS8L1,upstream_gene_variant,,ENST00000245618,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,missense_variant,p.Thr5Met,ENST00000587786,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592318,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000591219,;EPS8L1,upstream_gene_variant,,ENST00000592102,;EPS8L1,upstream_gene_variant,,ENST00000590610,;EPS8L1,upstream_gene_variant,,ENST00000590232,;EPS8L1,upstream_gene_variant,,ENST00000592044,;EPS8L1,upstream_gene_variant,,ENST00000592284,;EPS8L1,upstream_gene_variant,,ENST00000589362,;	184	100	88	SUCCESS
PTPRH	5794	.	GRCh37	19	55693151	55693151	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201369294	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	104	0	ENST00000376350.3:c.3319G>A	p.Ala1107Thr	p.A1107T	ENST00000376350	NM_002842.3	1107	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33110.1	3319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCGGCCA	NONE	byCluster	.	.	.	.	ENSP00000365528	.	20/20	.	.	.	.	.	.	.	.	rs201369294	20/20	PASS	ENST00000376350	Transcript	.	.	ENSG00000080031	9672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,missense_variant,p.Ala929Thr,ENST00000263434,;PTPRH,missense_variant,p.Ala1107Thr,ENST00000376350,;SYT5,upstream_gene_variant,,ENST00000589172,;SYT5,upstream_gene_variant,,ENST00000354308,;SYT5,upstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000537500,;CTD-2587H24.5,downstream_gene_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000585461,;	3342	104	85	SUCCESS
RPL28	6158	.	GRCh37	19	55899324	55899324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1375857394	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	81	0	ENST00000344063.2:c.232G>A	p.Val78Met	p.V78M	ENST00000344063		78	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS46189.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATGTGCGG	NONE	.	.	Pfam_domain:PF01778,hmmpanther:PTHR10544,hmmpanther:PTHR10544:SF0	.	.	ENSP00000452909	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000558815	Transcript	.	.	ENSG00000108107	10330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	tolerated(0.08)	.	RL28_HUMAN	RPL28	HGNC	.	.	UPI0001824648	SNV	RPL28,missense_variant,p.Met71Ile,ENST00000558131,;RPL28,missense_variant,p.Val78Met,ENST00000560055,;RPL28,missense_variant,p.Val78Met,ENST00000560583,;RPL28,missense_variant,p.Val78Met,ENST00000458349,;RPL28,missense_variant,p.Val78Met,ENST00000559463,;RPL28,missense_variant,p.Val78Met,ENST00000558815,;RPL28,missense_variant,p.Val78Met,ENST00000344063,;RPL28,downstream_gene_variant,,ENST00000428193,;RPL28,downstream_gene_variant,,ENST00000431533,;TMEM238,upstream_gene_variant,,ENST00000444469,;RPL28,downstream_gene_variant,,ENST00000558752,;RPL28,non_coding_transcript_exon_variant,,ENST00000426763,;RPL28,non_coding_transcript_exon_variant,,ENST00000560881,;	274	81	74	SUCCESS
UBE2S	27338	.	GRCh37	19	55919025	55919026	+	5_prime_UTR_variant	5'UTR	INS	-	-	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	45	0	ENST00000264552.9:c.-69dup		p.*23*	ENST00000264552	NM_014501.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33114.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGGCGGGGG	NONE	.	.	.	.	.	ENSP00000264552	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000264552	Transcript	.	.	ENSG00000108106	17895	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBE2S_HUMAN	UBE2S	HGNC	.	.	UPI000000122B	insertion	UBE2S,5_prime_UTR_variant,,ENST00000264552,;UBE2S,5_prime_UTR_variant,,ENST00000589978,;UBE2S,5_prime_UTR_variant,,ENST00000587845,;RPL28,downstream_gene_variant,,ENST00000560055,;UBE2S,upstream_gene_variant,,ENST00000592570,;	120-121	45	62	SUCCESS
ZNF628	89887	.	GRCh37	19	55992668	55992668	+	synonymous_variant	Silent	SNP	C	C	T	rs1470515935	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	54	124	0	ENST00000598519.1:c.108C>T	p.Tyr36=	p.Y36=	ENST00000598519	NM_033113.2	36	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS33116.3	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTACGAATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF237,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000469591	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000598519	Transcript	.	.	ENSG00000197483	28054	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN628_HUMAN	ZNF628	HGNC	K7EL41_HUMAN	.	UPI00026B9C6E	SNV	ZNF628,synonymous_variant,p.%3D,ENST00000391718,;ZNF628,synonymous_variant,p.%3D,ENST00000591164,;ZNF628,synonymous_variant,p.%3D,ENST00000598519,;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000205194,;CTD-2537I9.16,upstream_gene_variant,,ENST00000596646,;NAT14,upstream_gene_variant,,ENST00000592719,;	661	124	140	SUCCESS
SAFB2	9667	.	GRCh37	19	5604862	5604862	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142026681	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	77	0	ENST00000252542.4:c.1382C>T	p.Ala461Val	p.A461V	ENST00000252542	NM_014649.2	461	gCg/gTg	0	A:0.0002	A:0.0008	.	A:0	.	A	A/V	protein_coding	YES	CCDS32879.1	1382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGCCTCG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	A:0	A:0.0001	ENSP00000252542	A:0	10/21	.	.	.	.	.	.	.	.	TMP_ESP_19_5604862_5604862	10/21	PASS	ENST00000252542	Transcript	.	.	ENSG00000130254	21605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	A:0	tolerated(0.17)	.	SAFB2_HUMAN	SAFB2	HGNC	.	.	UPI0000071DB7	SNV	SAFB2,missense_variant,p.Ala461Val,ENST00000252542,;SAFB2,non_coding_transcript_exon_variant,,ENST00000591310,;SAFB2,3_prime_UTR_variant,,ENST00000591123,;SAFB2,non_coding_transcript_exon_variant,,ENST00000592599,;SAFB2,non_coding_transcript_exon_variant,,ENST00000591101,;SAFB2,upstream_gene_variant,,ENST00000585449,;	1647	77	57	SUCCESS
U2AF2	11338	.	GRCh37	19	56185355	56185355	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	108	0	ENST00000308924.4:c.1349C>T	p.Thr450Met	p.T450M	ENST00000308924		450	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12933.1	1349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACGGGCC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF53,Pfam_domain:PF00076,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01642,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000307863	.	12/12	.	.	.	.	.	.	.	.	COSM308571	12/12	PASS	ENST00000308924	Transcript	.	.	ENSG00000063244	23156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.966)	.	deleterious(0)	1	U2AF2_HUMAN	U2AF2	HGNC	.	.	UPI0000137924	SNV	U2AF2,missense_variant,p.Thr450Met,ENST00000308924,;U2AF2,missense_variant,p.Thr282Met,ENST00000590551,;U2AF2,missense_variant,p.Thr446Met,ENST00000450554,;EPN1,upstream_gene_variant,,ENST00000270460,;EPN1,upstream_gene_variant,,ENST00000085079,;EPN1,upstream_gene_variant,,ENST00000411543,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;CTD-2537I9.13,downstream_gene_variant,,ENST00000592252,;	1389	108	90	SUCCESS
SAFB	6294	.	GRCh37	19	5661679	5661679	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	111	0	ENST00000292123.5:c.2013C>T	p.Arg671=	p.R671=	ENST00000292123	NM_002967.3	671	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS59339.1	2013	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCGAACG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15683:SF6,hmmpanther:PTHR15683	.	.	ENSP00000467423	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000588852	Transcript	.	.	ENSG00000160633	10520	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SAFB1_HUMAN	SAFB	HGNC	Q68DW3_HUMAN,F5GZU3_HUMAN	.	UPI0000E5BE82	SNV	SAFB,synonymous_variant,p.%3D,ENST00000588852,;SAFB,synonymous_variant,p.%3D,ENST00000454510,;SAFB,synonymous_variant,p.%3D,ENST00000292123,;SAFB,synonymous_variant,p.%3D,ENST00000538656,;SAFB,synonymous_variant,p.%3D,ENST00000433404,;SAFB,synonymous_variant,p.%3D,ENST00000592224,;SAFB,synonymous_variant,p.%3D,ENST00000589006,;SAFB,3_prime_UTR_variant,,ENST00000589863,;SAFB,upstream_gene_variant,,ENST00000592555,;SAFB,upstream_gene_variant,,ENST00000586281,;SAFB,upstream_gene_variant,,ENST00000591991,;	2066	111	101	SUCCESS
ZNF667	63934	.	GRCh37	19	56953429	56953429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142398083	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	105	0	ENST00000292069.6:c.935C>T	p.Ala312Val	p.A312V	ENST00000292069	NM_022103.3	312	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS12944.1	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGCATTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46	.	A:0.0009	ENSP00000439402	.	7/7	.	.	.	.	.	.	.	.	rs142398083,COSM1396817	7/7	common_in_exac	ENST00000504904	Transcript	.	.	ENSG00000198046	28854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated(0.23)	0,1	ZN667_HUMAN	ZNF667	HGNC	K7ERY5_HUMAN,K7EIE0_HUMAN	.	UPI0000202CEE	SNV	ZNF667,missense_variant,p.Ala440Val,ENST00000342634,;ZNF667,missense_variant,p.Ala312Val,ENST00000292069,;ZNF667,missense_variant,p.Ala312Val,ENST00000504904,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;	1655	105	97	SUCCESS
ZNF835	90485	.	GRCh37	19	57175770	57175770	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	115	0	ENST00000537055.2:c.797T>A	p.Ile266Asn	p.I266N	ENST00000537055	NM_001005850.2	266	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS56105.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGATGAGC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0.04)	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,missense_variant,p.Ile266Asn,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1029	115	112	SUCCESS
ZNF460	10794	.	GRCh37	19	57803344	57803344	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770070331	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	28	113	1	ENST00000360338.3:c.1435G>A	p.Val479Met	p.V479M	ENST00000360338	NM_006635.3	479	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS12949.1	1435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCGTGGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF15,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000353491	.	3/3	.	.	.	.	.	.	.	.	rs770070331	3/3	PASS	ENST00000360338	Transcript	.	.	ENSG00000197714	21628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.1)	.	ZN460_HUMAN	ZNF460	HGNC	M0R0J6_HUMAN,B4DNX9_HUMAN	.	UPI0000202D11	SNV	ZNF460,missense_variant,p.Val438Met,ENST00000537645,;ZNF460,missense_variant,p.Val479Met,ENST00000360338,;ZNF460,downstream_gene_variant,,ENST00000599602,;	1757	114	126	SUCCESS
FUT6	2528	.	GRCh37	19	5832042	5832042	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	56	99	0	ENST00000286955.5:c.537C>A	p.Ala179=	p.A179=	ENST00000286955	NM_001040701.1	179	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12152.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGGGCAGG	NONE	.	.	hmmpanther:PTHR11929:SF134,hmmpanther:PTHR11929,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000313398	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000318336	Transcript	1	.	ENSG00000156413	4017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT6_HUMAN	FUT6	HGNC	E9PS22_HUMAN,E9PP56_HUMAN,E9PJB4_HUMAN,E9PJ18_HUMAN,E9PI36_HUMAN	.	UPI000012ADAC	SNV	FUT6,synonymous_variant,p.%3D,ENST00000286955,;FUT6,synonymous_variant,p.%3D,ENST00000527106,;FUT6,synonymous_variant,p.%3D,ENST00000318336,;FUT6,synonymous_variant,p.%3D,ENST00000524754,;FUT6,synonymous_variant,p.%3D,ENST00000592563,;FUT6,downstream_gene_variant,,ENST00000528505,;FUT6,downstream_gene_variant,,ENST00000531199,;FUT6,downstream_gene_variant,,ENST00000532464,;FUT6,downstream_gene_variant,,ENST00000529165,;NRTN,downstream_gene_variant,,ENST00000303212,;FUT6,downstream_gene_variant,,ENST00000531085,;FUT6,downstream_gene_variant,,ENST00000526499,;	1732	100	135	SUCCESS
ZNF814	730051	.	GRCh37	19	58384994	58384994	+	synonymous_variant	Silent	SNP	G	G	A	rs562476717	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	111	0	ENST00000435989.2:c.1764C>T	p.Ile588=	p.I588=	ENST00000435989	NM_001144989.1	588	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS46212.1	1764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGATTGA	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF3,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000410545	.	3/3	.	.	.	.	.	.	.	.	rs562476717	3/3	PASS	ENST00000435989	Transcript	.	.	ENSG00000204514	33258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN814_HUMAN	ZNF814	HGNC	.	.	UPI0001662BAD	SNV	ZNF814,synonymous_variant,p.%3D,ENST00000435989,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;CTD-2583A14.11,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.11,downstream_gene_variant,,ENST00000603829,;	1999	111	96	SUCCESS
ZNF544	27300	.	GRCh37	19	58773536	58773536	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	56	157	0	ENST00000269829.4:c.1564T>C	p.Cys522Arg	p.C522R	ENST00000269829	NM_014480.2	522	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS12973.1	1564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGTGCAAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000269829	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000269829	Transcript	.	.	ENSG00000198131	16759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN544_HUMAN	ZNF544	HGNC	O14844_HUMAN,M0QY11_HUMAN	.	UPI000013D856	SNV	ZNF544,missense_variant,p.Cys380Arg,ENST00000599953,;ZNF544,missense_variant,p.Cys522Arg,ENST00000269829,;ZNF544,missense_variant,p.Cys522Arg,ENST00000596652,;ZNF544,missense_variant,p.Cys494Arg,ENST00000415203,;ZNF544,missense_variant,p.Cys494Arg,ENST00000600220,;ZNF544,missense_variant,p.Cys494Arg,ENST00000600044,;ZNF544,3_prime_UTR_variant,,ENST00000596825,;ZNF544,3_prime_UTR_variant,,ENST00000599227,;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,;ZNF544,downstream_gene_variant,,ENST00000594384,;CTD-3138B18.5,intron_variant,,ENST00000597230,;CTD-3138B18.6,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;CTD-3138B18.4,intron_variant,,ENST00000600029,;	2038	157	151	SUCCESS
SLC27A5	10998	.	GRCh37	19	59011917	59011917	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs558863851	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	59	0	ENST00000263093.2:c.1339C>T	p.Arg447Cys	p.R447C	ENST00000263093	NM_012254.2	447	Cgc/Tgc	0	.	A:0.0008	.	A:0	.	A	R/C	protein_coding	YES	CCDS12983.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCCCCA	NONE	by1000G	.	hmmpanther:PTHR24096:SF99,hmmpanther:PTHR24096,Pfam_domain:PF00501,Superfamily_domains:SSF56801	A:0	.	ENSP00000263093	A:0	5/10	.	.	.	.	.	.	.	.	rs558863851	5/10	PASS	ENST00000263093	Transcript	.	A:0.0002	ENSG00000083807	10999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	A:0	deleterious(0.03)	.	S27A5_HUMAN	SLC27A5	HGNC	M0R075_HUMAN	.	UPI0000072ECE	SNV	SLC27A5,missense_variant,p.Arg363Cys,ENST00000601355,;SLC27A5,missense_variant,p.Arg447Cys,ENST00000263093,;SLC27A5,upstream_gene_variant,,ENST00000594786,;SLC27A5,upstream_gene_variant,,ENST00000599700,;SLC27A5,upstream_gene_variant,,ENST00000601997,;SLC27A5,downstream_gene_variant,,ENST00000594683,;SLC27A5,upstream_gene_variant,,ENST00000595851,;	1449	59	51	SUCCESS
TRIM28	10155	.	GRCh37	19	59059077	59059077	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	36	155	0	ENST00000253024.5:c.836G>A	p.Ser279Asn	p.S279N	ENST00000253024	NM_005762.2	279	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS12985.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGCTCGT	NONE	.	.	hmmpanther:PTHR24103:SF285,hmmpanther:PTHR24103,SMART_domains:SM00502	.	.	ENSP00000253024	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000253024	Transcript	.	.	ENSG00000130726	16384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.13)	.	TIF1B_HUMAN	TRIM28	HGNC	M0R3C0_HUMAN,M0QZE6_HUMAN	.	UPI0000136C15	SNV	TRIM28,missense_variant,p.Ser197Asn,ENST00000341753,;TRIM28,missense_variant,p.Ser279Asn,ENST00000253024,;TRIM28,missense_variant,p.Ser145Asn,ENST00000594806,;CHMP2A,downstream_gene_variant,,ENST00000312547,;CHMP2A,downstream_gene_variant,,ENST00000600118,;TRIM28,downstream_gene_variant,,ENST00000597968,;CHMP2A,downstream_gene_variant,,ENST00000601220,;TRIM28,upstream_gene_variant,,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000596708,;TRIM28,downstream_gene_variant,,ENST00000593582,;CHMP2A,downstream_gene_variant,,ENST00000600006,;RN7SL525P,upstream_gene_variant,,ENST00000579267,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597172,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597423,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597618,;TRIM28,non_coding_transcript_exon_variant,,ENST00000601150,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,upstream_gene_variant,,ENST00000598355,;TRIM28,upstream_gene_variant,,ENST00000595974,;TRIM28,upstream_gene_variant,,ENST00000597995,;TRIM28,upstream_gene_variant,,ENST00000595028,;TRIM28,upstream_gene_variant,,ENST00000600840,;	1125	155	116	SUCCESS
TRIP10	9322	.	GRCh37	19	6743585	6743585	+	synonymous_variant	Silent	SNP	C	C	T	rs774942232	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	46	0	ENST00000313244.9:c.489C>T	p.Asn163=	p.N163=	ENST00000313244		163	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS12172.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAACGCCAC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12602:SF7,hmmpanther:PTHR12602,Superfamily_domains:SSF103657	.	.	ENSP00000320493	.	6/14	.	.	.	.	.	.	.	.	rs774942232	6/14	PASS	ENST00000313285	Transcript	.	.	ENSG00000125733	12304	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CIP4_HUMAN	TRIP10	HGNC	M0R0F9_HUMAN,M0R070_HUMAN	.	UPI00001279E3	SNV	TRIP10,synonymous_variant,p.%3D,ENST00000313285,;TRIP10,synonymous_variant,p.%3D,ENST00000596673,;TRIP10,synonymous_variant,p.%3D,ENST00000596758,;TRIP10,synonymous_variant,p.%3D,ENST00000600428,;TRIP10,synonymous_variant,p.%3D,ENST00000313244,;CTD-3128G10.6,downstream_gene_variant,,ENST00000594056,;TRIP10,downstream_gene_variant,,ENST00000596543,;TRIP10,downstream_gene_variant,,ENST00000601303,;TRIP10,synonymous_variant,p.%3D,ENST00000600677,;TRIP10,non_coding_transcript_exon_variant,,ENST00000596078,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595319,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595305,;TRIP10,non_coding_transcript_exon_variant,,ENST00000600491,;TRIP10,upstream_gene_variant,,ENST00000598843,;	571	46	60	SUCCESS
ZNF358	140467	.	GRCh37	19	7585482	7585482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	86	0	ENST00000394341.2:c.1354C>A	p.Leu452Ile	p.L452I	ENST00000394341		452	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS32890.2	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCTCAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000472305	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597229	Transcript	.	.	ENSG00000198816	16838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated_low_confidence(0.12)	.	ZN358_HUMAN	ZNF358	HGNC	M0R2S5_HUMAN	.	UPI0000201F0C	SNV	ZNF358,missense_variant,p.Leu452Ile,ENST00000394341,;ZNF358,missense_variant,p.Leu452Ile,ENST00000597229,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;MCOLN1,upstream_gene_variant,,ENST00000264079,;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.11,upstream_gene_variant,,ENST00000602083,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;	1524	86	103	SUCCESS
XAB2	56949	.	GRCh37	19	7687717	7687717	+	synonymous_variant	Silent	SNP	G	G	A	rs1179344256	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	7	92	0	ENST00000358368.4:c.1302C>T	p.Ser434=	p.S434=	ENST00000358368	NM_020196.2	434	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32892.1	1302	MUTECT|MUSE	.	CACACGCTTGC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,SMART_domains:SM00386,Gene3D:1.25.40.10,Pfam_domain:PF07719,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000351137	.	10/19	.	.	.	.	.	.	.	.	COSM440639	10/19	PASS	ENST00000358368	Transcript	.	.	ENSG00000076924	14089	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	SYF1_HUMAN	XAB2	HGNC	Q68CN2_HUMAN,F5H315_HUMAN	.	UPI0000001BDE	SNV	XAB2,synonymous_variant,p.%3D,ENST00000358368,;XAB2,synonymous_variant,p.%3D,ENST00000534844,;CAMSAP3,downstream_gene_variant,,ENST00000160298,;CAMSAP3,downstream_gene_variant,,ENST00000446248,;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;XAB2,upstream_gene_variant,,ENST00000600230,;CAMSAP3,downstream_gene_variant,,ENST00000595692,;XAB2,upstream_gene_variant,,ENST00000596134,;	1340	92	91	SUCCESS
PTBP1	5725	.	GRCh37	19	804698	804698	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	64	0	ENST00000349038.4:c.602A>G	p.His201Arg	p.H201R	ENST00000349038	NM_031991.3	201	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS42456.1	602	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACCAGG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF17,Pfam_domain:PF13893,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01649,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000349428	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000356948	Transcript	.	.	ENSG00000011304	9583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.054)	.	deleterious(0.04)	.	PTBP1_HUMAN	PTBP1	HGNC	.	.	UPI00000720B7	SNV	PTBP1,missense_variant,p.His201Arg,ENST00000349038,;PTBP1,missense_variant,p.His26Arg,ENST00000585956,;PTBP1,missense_variant,p.His198Arg,ENST00000589575,;PTBP1,missense_variant,p.His215Arg,ENST00000586481,;PTBP1,missense_variant,p.His201Arg,ENST00000394601,;PTBP1,missense_variant,p.His201Arg,ENST00000356948,;PTBP1,missense_variant,p.His232Arg,ENST00000585535,;PTBP1,intron_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000587094,;MIR4745,upstream_gene_variant,,ENST00000577608,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000592113,;PTBP1,intron_variant,,ENST00000587191,;PTBP1,upstream_gene_variant,,ENST00000585932,;PTBP1,upstream_gene_variant,,ENST00000589569,;PTBP1,upstream_gene_variant,,ENST00000589883,;PTBP1,upstream_gene_variant,,ENST00000592804,;PTBP1,upstream_gene_variant,,ENST00000589770,;PTBP1,upstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000590887,;PTBP1,upstream_gene_variant,,ENST00000587136,;	1025	64	29	SUCCESS
CERS4	79603	.	GRCh37	19	8320763	8320763	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs368700192	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	43	0	ENST00000251363.5:c.468C>T		p.X156_splice	ENST00000251363	NM_024552.2	156	caC/caT	0	T:0.0002	.	.	.	.	T	H	protein_coding	YES	CCDS12197.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACGTGAG	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12560:SF6,hmmpanther:PTHR12560,Pfam_domain:PF03798,SMART_domains:SM00724,PIRSF_domain:PIRSF005225	.	T:0	ENSP00000251363	.	6/12	.	.	.	.	.	.	.	.	rs368700192	6/12	PASS	ENST00000251363	Transcript	.	.	ENSG00000090661	23747	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CERS4_HUMAN	CERS4	HGNC	H0YNR6_HUMAN,H0YMY6_HUMAN,H0YLY3_HUMAN,H0YKS3_HUMAN,H0YKR4_HUMAN,H0YKC9_HUMAN	.	UPI000013CCFB	SNV	CERS4,synonymous_variant,p.%3D,ENST00000559450,;CERS4,synonymous_variant,p.%3D,ENST00000558331,;CERS4,synonymous_variant,p.%3D,ENST00000251363,;CERS4,synonymous_variant,p.%3D,ENST00000558877,;CERS4,synonymous_variant,p.%3D,ENST00000559336,;CERS4,downstream_gene_variant,,ENST00000558268,;CERS4,downstream_gene_variant,,ENST00000561053,;CERS4,downstream_gene_variant,,ENST00000560412,;CERS4,downstream_gene_variant,,ENST00000561008,;CERS4,splice_region_variant,,ENST00000595722,;CERS4,splice_region_variant,,ENST00000558501,;CERS4,non_coding_transcript_exon_variant,,ENST00000557925,;	768	43	48	SUCCESS
MUC16	94025	.	GRCh37	19	9071612	9071612	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	5	90	0	ENST00000397910.4:c.15834T>C	p.Ser5278=	p.S5278=	ENST00000397910	NM_024690.2	5278	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS54212.1	15834	MUTECT|MUSE	.	GATGCAGACTC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	16038	90	109	SUCCESS
ZNF266	10781	.	GRCh37	19	9524021	9524021	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	39	121	0	ENST00000588221.1:c.1580A>C	p.Lys527Thr	p.K527T	ENST00000588221		527	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS12213.1	1580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTTTCCCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF117,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000466714	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000592904	Transcript	.	.	ENSG00000174652	13059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN266_HUMAN	ZNF266	HGNC	K7EQP7_HUMAN	.	UPI00001D4705	SNV	ZNF266,missense_variant,p.Lys527Thr,ENST00000590306,;ZNF266,missense_variant,p.Lys527Thr,ENST00000361151,;ZNF266,missense_variant,p.Lys527Thr,ENST00000361451,;ZNF266,missense_variant,p.Lys527Thr,ENST00000588933,;ZNF266,missense_variant,p.Lys527Thr,ENST00000592904,;ZNF266,missense_variant,p.Lys527Thr,ENST00000588221,;ZNF266,missense_variant,p.Lys527Thr,ENST00000592292,;ZNF266,downstream_gene_variant,,ENST00000591213,;	3657	121	117	SUCCESS
SLC30A7	148867	.	GRCh37	1	101379226	101379226	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	84	175	0	ENST00000357650.4:c.519A>T	p.Gly173=	p.G173=	ENST00000357650		173	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS776.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGACACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF13,TIGRFAM_domain:TIGR01297,Pfam_domain:PF01545	.	.	ENSP00000359130	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000370112	Transcript	.	.	ENSG00000162695	19306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNT7_HUMAN	SLC30A7	HGNC	.	.	UPI0000050F45	SNV	SLC30A7,synonymous_variant,p.%3D,ENST00000357650,;SLC30A7,synonymous_variant,p.%3D,ENST00000370112,;	706	175	181	SUCCESS
CORT	1325	.	GRCh37	1	10510098	10510098	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs749984934	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	126	317	1	ENST00000377049.3:c.-183G>A		p.*61*	ENST00000377049	NM_001302.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS117.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCGAGGGA	NONE	.	.	.	.	.	ENSP00000366248	.	1/2	.	.	.	.	.	.	.	.	rs749984934	1/2	PASS	ENST00000377049	Transcript	.	.	ENSG00000241563	2257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CORT_HUMAN	CORT	HGNC	.	.	UPI0000127F26	SNV	CORT,5_prime_UTR_variant,,ENST00000320498,;CORT,5_prime_UTR_variant,,ENST00000377049,;APITD1-CORT,intron_variant,,ENST00000602446,;APITD1,intron_variant,,ENST00000602787,;APITD1,intron_variant,,ENST00000602296,;APITD1-CORT,intron_variant,,ENST00000470413,;APITD1-CORT,intron_variant,,ENST00000400900,;APITD1-CORT,intron_variant,,ENST00000465026,;	323	318	322	SUCCESS
CASZ1	54897	.	GRCh37	1	10713986	10713986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	104	0	ENST00000377022.3:c.2128C>A	p.Leu710Met	p.L710M	ENST00000377022	NM_001079843.2	710	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS41246.1	2128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCAGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12451	.	.	ENSP00000366221	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000377022	Transcript	.	.	ENSG00000130940	26002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious_low_confidence(0.02)	.	CASZ1_HUMAN	CASZ1	HGNC	.	.	UPI0000EBB7D6	SNV	CASZ1,missense_variant,p.Leu710Met,ENST00000344008,;CASZ1,missense_variant,p.Leu710Met,ENST00000377022,;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;	2446	104	106	SUCCESS
NTNG1	22854	.	GRCh37	1	108023282	108023282	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	92	0	ENST00000370068.1:c.1440C>T	p.Cys480=	p.C480=	ENST00000370068		480	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS44180.1	1440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGCCACAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000359085	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000370068	Transcript	.	.	ENSG00000162631	23319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTNG1_HUMAN	NTNG1	HGNC	Q5IEC8_HUMAN	.	UPI0000458A3E	SNV	NTNG1,synonymous_variant,p.%3D,ENST00000370074,;NTNG1,synonymous_variant,p.%3D,ENST00000370070,;NTNG1,synonymous_variant,p.%3D,ENST00000370071,;NTNG1,synonymous_variant,p.%3D,ENST00000370072,;NTNG1,synonymous_variant,p.%3D,ENST00000370067,;NTNG1,synonymous_variant,p.%3D,ENST00000370073,;NTNG1,synonymous_variant,p.%3D,ENST00000370061,;NTNG1,synonymous_variant,p.%3D,ENST00000542803,;NTNG1,synonymous_variant,p.%3D,ENST00000370068,;NTNG1,synonymous_variant,p.%3D,ENST00000370066,;NTNG1,synonymous_variant,p.%3D,ENST00000370065,;	2286	92	91	SUCCESS
FAM102B	284611	.	GRCh37	1	109171126	109171126	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	62	131	0	ENST00000370035.3:c.762T>C	p.Cys254=	p.C254=	ENST00000370035	NM_001010883.2	254	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS30786.2	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTGATGA	NONE	.	.	hmmpanther:PTHR21456:SF3,hmmpanther:PTHR21456	.	.	ENSP00000359052	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000370035	Transcript	.	.	ENSG00000162636	27637	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F102B_HUMAN	FAM102B	HGNC	.	.	UPI00001D7585	SNV	FAM102B,synonymous_variant,p.%3D,ENST00000370035,;FAM102B,synonymous_variant,p.%3D,ENST00000405454,;FAM102B,non_coding_transcript_exon_variant,,ENST00000483371,;	1102	131	154	SUCCESS
CELSR2	1952	.	GRCh37	1	109801459	109801459	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	34	118	0	ENST00000271332.3:c.3716A>G	p.Asn1239Ser	p.N1239S	ENST00000271332	NM_001408.2	1239	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS796.1	3716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAACTACA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000271332	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Asn1239Ser,ENST00000271332,;	3777	118	137	SUCCESS
C1orf127	148345	.	GRCh37	1	11007833	11007833	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1283160262	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	28	63	0	ENST00000377004.4:c.2359del	p.Ala787ProfsTer7	p.A787Pfs*7	ENST00000377004	NM_001170754.1	787	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS53267.1	2359	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGAGGCCCCCC	NONE	.	.	.	.	.	ENSP00000366203	.	12/13	.	.	.	.	.	.	.	.	COSM1332368,COSM1332367	12/13	PASS	ENST00000377004	Transcript	.	.	ENSG00000175262	26730	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	.	C1orf127	HGNC	G8JLG8_HUMAN,B7ZLG7_HUMAN	.	UPI0001C0B385	deletion	C1orf127,frameshift_variant,p.Ala739ProfsTer7,ENST00000520253,;C1orf127,frameshift_variant,p.Ala787ProfsTer7,ENST00000377004,;C1orf127,frameshift_variant,p.Ala622ProfsTer7,ENST00000418570,;C1orf127,frameshift_variant,p.Ala620ProfsTer7,ENST00000377008,;C1orf127,frameshift_variant,p.Ala33ProfsTer7,ENST00000468348,;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,;	2359	63	104	SUCCESS
C1orf127	148345	.	GRCh37	1	11009719	11009719	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766680398	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	124	0	ENST00000377004.4:c.1252C>T	p.Arg418Trp	p.R418W	ENST00000377004	NM_001170754.1	418	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS53267.1	1252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGAGAAA	NONE	byFrequency	.	.	.	.	ENSP00000366203	.	11/13	.	.	.	.	.	.	.	.	rs766680398	11/13	PASS	ENST00000377004	Transcript	.	.	ENSG00000175262	26730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.15)	.	.	C1orf127	HGNC	G8JLG8_HUMAN,B7ZLG7_HUMAN	.	UPI0001C0B385	SNV	C1orf127,missense_variant,p.Arg418Trp,ENST00000377004,;C1orf127,missense_variant,p.Arg253Trp,ENST00000418570,;C1orf127,missense_variant,p.Arg251Trp,ENST00000377008,;C1orf127,intron_variant,,ENST00000520253,;C1orf127,upstream_gene_variant,,ENST00000468348,;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,;	1252	124	111	SUCCESS
GSTM5	2949	.	GRCh37	1	110255817	110255817	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	276	131	526	0	ENST00000256593.3:c.177+12G>T		p.*59*	ENST00000256593	NM_000851.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS811.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCAGGGGAAGG	NONE	.	.	.	.	.	ENSP00000256593	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256593	Transcript	.	.	ENSG00000134201	4637	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GSTM5_HUMAN	GSTM5	HGNC	Q5T8R2_HUMAN	.	UPI000013CF16	SNV	GSTM5,5_prime_UTR_variant,,ENST00000369813,;GSTM5,intron_variant,,ENST00000369812,;GSTM5,intron_variant,,ENST00000256593,;GSTM1,downstream_gene_variant,,ENST00000483399,;GSTM2,downstream_gene_variant,,ENST00000369831,;GSTM5,intron_variant,,ENST00000429410,;GSTM5,upstream_gene_variant,,ENST00000483153,;GSTM5,upstream_gene_variant,,ENST00000492718,;GSTM1,downstream_gene_variant,,ENST00000490021,;	.	526	408	SUCCESS
EPS8L3	79574	.	GRCh37	1	110300674	110300674	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	53	0	ENST00000361965.4:c.724C>T	p.Leu242=	p.L242=	ENST00000361965		242	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS815.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGCACTT	NONE	.	.	hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287	.	.	ENSP00000358820	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000369805	Transcript	.	.	ENSG00000198758	21297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ES8L3_HUMAN	EPS8L3	HGNC	.	.	UPI00001613C9	SNV	EPS8L3,synonymous_variant,p.%3D,ENST00000361965,;EPS8L3,synonymous_variant,p.%3D,ENST00000369805,;EPS8L3,synonymous_variant,p.%3D,ENST00000361852,;RP4-735C1.4,intron_variant,,ENST00000431955,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,downstream_gene_variant,,ENST00000477568,;EPS8L3,downstream_gene_variant,,ENST00000472325,;EPS8L3,downstream_gene_variant,,ENST00000494151,;	957	53	58	SUCCESS
EXOSC10	5394	.	GRCh37	1	11151567	11151567	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	35	115	0	ENST00000376936.4:c.460T>C	p.Ser154Pro	p.S154P	ENST00000376936	NM_001001998.1	154	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS30584.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGACACTA	NONE	.	.	hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42	.	.	ENSP00000366135	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000376936	Transcript	.	.	ENSG00000171824	9138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	EXOSX_HUMAN	EXOSC10	HGNC	K7EJ37_HUMAN,B4DFE4_HUMAN	.	UPI0000001C90	SNV	EXOSC10,missense_variant,p.Ser154Pro,ENST00000544779,;EXOSC10,missense_variant,p.Ser154Pro,ENST00000376936,;EXOSC10,missense_variant,p.Ser154Pro,ENST00000304457,;EXOSC10,3_prime_UTR_variant,,ENST00000460196,;	510	115	124	SUCCESS
CEPT1	10390	.	GRCh37	1	111703836	111703836	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	43	100	0	ENST00000357172.4:c.553del	p.Cys185ValfsTer26	p.C185Vfs*26	ENST00000357172	NM_006090.3	183	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS830.1	547	VARSCANI*|PINDEL	.	TGGATGTTTTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10414:SF27,hmmpanther:PTHR10414,Pfam_domain:PF01066,PIRSF_domain:PIRSF015665	.	.	ENSP00000441980	.	4/9	.	.	.	.	.	.	.	.	COSM296465	4/9	PASS	ENST00000545121	Transcript	.	.	ENSG00000134255	24289	6	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CEPT1_HUMAN	CEPT1	HGNC	.	.	UPI0000062325	deletion	CEPT1,frameshift_variant,p.Cys185ValfsTer26,ENST00000357172,;CEPT1,frameshift_variant,p.Cys185ValfsTer26,ENST00000545121,;CEPT1,non_coding_transcript_exon_variant,,ENST00000478042,;CEPT1,non_coding_transcript_exon_variant,,ENST00000498239,;CEPT1,non_coding_transcript_exon_variant,,ENST00000460443,;CEPT1,downstream_gene_variant,,ENST00000476865,;CEPT1,downstream_gene_variant,,ENST00000480324,;	755	100	140	SUCCESS
VANGL1	81839	.	GRCh37	1	116226598	116226598	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	204	453	0	ENST00000310260.3:c.980C>T	p.Ala327Val	p.A327V	ENST00000310260	NM_001172412.1	327	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS883.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCCATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF8,Pfam_domain:PF06638,PIRSF_domain:PIRSF007991	.	.	ENSP00000347672	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000355485	Transcript	.	.	ENSG00000173218	15512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.05)	.	VANG1_HUMAN	VANGL1	HGNC	.	.	UPI0000070B72	SNV	VANGL1,missense_variant,p.Ala327Val,ENST00000355485,;VANGL1,missense_variant,p.Ala327Val,ENST00000369509,;VANGL1,missense_variant,p.Ala325Val,ENST00000369510,;VANGL1,missense_variant,p.Ala327Val,ENST00000310260,;VANGL1,non_coding_transcript_exon_variant,,ENST00000474344,;VANGL1,non_coding_transcript_exon_variant,,ENST00000478369,;	1251	453	457	SUCCESS
PTGFRN	5738	.	GRCh37	1	117484576	117484576	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	34	259	1	ENST00000393203.2:c.289A>G	p.Thr97Ala	p.T97A	ENST00000393203	NM_020440.2	97	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS890.1	289	RADIA|VARSCANS	.	GGCGGACTGCC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12207:SF3,hmmpanther:PTHR12207,PROSITE_profiles:PS50835	.	.	ENSP00000376899	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000393203	Transcript	.	.	ENSG00000134247	9601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.822)	.	tolerated(0.24)	.	FPRP_HUMAN	PTGFRN	HGNC	Q9H3U3_HUMAN	.	UPI000012ABC4	SNV	PTGFRN,missense_variant,p.Thr97Ala,ENST00000393203,;	436	260	244	SUCCESS
MTHFR	4524	.	GRCh37	1	11854040	11854040	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	52	1	ENST00000376590.3:c.1454A>G	p.Gln485Arg	p.Q485R	ENST00000376590	NM_005957.4	485	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS137.1	1454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCTGTGAG	NONE	.	.	hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF31	.	.	ENSP00000365777	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000376592	Transcript	.	.	ENSG00000177000	7436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MTHR_HUMAN	MTHFR	HGNC	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN	.	UPI0000141098	SNV	MTHFR,missense_variant,p.Gln526Arg,ENST00000376585,;MTHFR,missense_variant,p.Gln485Arg,ENST00000376590,;MTHFR,missense_variant,p.Gln526Arg,ENST00000376583,;MTHFR,missense_variant,p.Gln485Arg,ENST00000376592,;C1orf167,downstream_gene_variant,,ENST00000449278,;C1orf167,downstream_gene_variant,,ENST00000312793,;C1orf167,downstream_gene_variant,,ENST00000433342,;C1orf167,downstream_gene_variant,,ENST00000444493,;C1orf167,downstream_gene_variant,,ENST00000482358,;	1583	53	55	SUCCESS
ZNF697	90874	.	GRCh37	1	120166363	120166363	+	synonymous_variant	Silent	SNP	G	G	A	rs587712785	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	73	0	ENST00000421812.2:c.603C>T	p.Gly201=	p.G201=	ENST00000421812	NM_001080470.1	201	ggC/ggT	0	.	A:0,A:0	.	A:0,A:0	.	A	G	protein_coding	YES	CCDS44202.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGCCAGG	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF55,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355	A:0,A:0	.	ENSP00000396857	A:0,A:0	3/3	.	.	.	.	.	.	.	.	rs587712785,rs749979233	3/3	PASS	ENST00000421812	Transcript	.	A:0.0004	ENSG00000143067	32034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002,A:0.002	.	.	ZN697_HUMAN	ZNF697	HGNC	Q8N508_HUMAN	.	UPI0000DD78D7	SNV	ZNF697,synonymous_variant,p.%3D,ENST00000421812,;	723	73	55	SUCCESS
ZNF697	90874	.	GRCh37	1	120166521	120166521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	72	176	0	ENST00000421812.2:c.445C>A	p.Leu149Met	p.L149M	ENST00000421812	NM_001080470.1	149	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS44202.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGGAGA	NONE	.	.	hmmpanther:PTHR24402:SF55,hmmpanther:PTHR24402	.	.	ENSP00000396857	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000421812	Transcript	.	.	ENSG00000143067	32034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.01)	.	ZN697_HUMAN	ZNF697	HGNC	Q8N508_HUMAN	.	UPI0000DD78D7	SNV	ZNF697,missense_variant,p.Leu149Met,ENST00000421812,;	565	176	179	SUCCESS
NOTCH2	4853	.	GRCh37	1	120468048	120468048	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	47	165	0	ENST00000256646.2:c.4391C>T	p.Ala1464Val	p.A1464V	ENST00000256646	NM_024408.3	1464	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS908.1	4391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGGCCCAG	NONE	.	.	PROSITE_profiles:PS50258,hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,Pfam_domain:PF00066,PIRSF_domain:PIRSF002279,SMART_domains:SM00004	.	.	ENSP00000256646	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.26)	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,missense_variant,p.Ala1464Val,ENST00000256646,;NOTCH2,upstream_gene_variant,,ENST00000493703,;	4611	165	128	SUCCESS
MIIP	60672	.	GRCh37	1	12082888	12082888	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	69	0	ENST00000235332.4:c.463-2A>G		p.X155_splice	ENST00000235332	NM_021933.3	155		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS143.1	.	RADIA|MUTECT|MUSE	.	TCCTCAGCCCA	NONE	.	.	.	.	.	ENSP00000235332	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000235332	Transcript	.	.	ENSG00000116691	25715	.	.	HIGH	3/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIIP_HUMAN	MIIP	HGNC	.	.	UPI000013C9CB	SNV	MIIP,splice_acceptor_variant,,ENST00000235332,;MIIP,splice_acceptor_variant,,ENST00000436478,;Y_RNA,downstream_gene_variant,,ENST00000365591,;MIIP,splice_acceptor_variant,,ENST00000478749,;MIIP,splice_acceptor_variant,,ENST00000466860,;MIIP,upstream_gene_variant,,ENST00000498685,;	.	69	51	SUCCESS
AADACL4	343066	.	GRCh37	1	12726630	12726630	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	92	0	ENST00000376221.1:c.1108T>G	p.Tyr370Asp	p.Y370D	ENST00000376221	NM_001013630.1	370	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS30590.1	1108	MUTECT|MUSE	.	CATGGTACCAC	NONE	.	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF95,Pfam_domain:PF07859,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	.	.	ENSP00000365395	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376221	Transcript	.	.	ENSG00000204518	32038	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.934)	.	deleterious(0.03)	.	ADCL4_HUMAN	AADACL4	HGNC	.	.	UPI0000160609	SNV	AADACL4,missense_variant,p.Tyr370Asp,ENST00000376221,;	1108	92	90	SUCCESS
DVL1	1855	.	GRCh37	1	1273715	1273715	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs970301024	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	80	0	ENST00000378888.5:c.1441C>T	p.Arg481Trp	p.R481W	ENST00000378888		481	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS22.1	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCGCAGGA	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR10878:SF5,hmmpanther:PTHR10878,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785	.	.	ENSP00000368169	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000378891	Transcript	.	.	ENSG00000107404	3084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DVL1_HUMAN	DVL1	HGNC	Q6PJD6_HUMAN,B7Z6B5_HUMAN,B7Z1E8_HUMAN	.	UPI000013D455	SNV	DVL1,missense_variant,p.Arg456Trp,ENST00000378891,;DVL1,missense_variant,p.Arg481Trp,ENST00000378888,;TAS1R3,downstream_gene_variant,,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000472445,;	1413	80	60	SUCCESS
HNRNPCL1	343069	.	GRCh37	1	12908251	12908251	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	127	0	ENST00000317869.6:c.-109G>A		p.*37*	ENST00000317869	NM_001013631.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30591.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGCGGCTC	NONE	.	.	.	.	.	ENSP00000365370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317869	Transcript	.	.	ENSG00000179172	29295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HNRCL_HUMAN	HNRNPCL1	HGNC	.	.	UPI0000134525	SNV	HNRNPCL1,5_prime_UTR_variant,,ENST00000317869,;	118	127	123	SUCCESS
PDE4DIP	9659	.	GRCh37	1	145075655	145075655	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782656374	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	29	202	0	ENST00000369345.4:c.208G>T	p.Ala70Ser	p.A70S	ENST00000369345		70	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	.	.	208	RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCTGCTT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000358351	.	1/2	.	.	.	.	.	.	.	.	rs782656374	1/2	PASS	ENST00000369345	Transcript	.	.	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.87)	.	deleterious_low_confidence(0.02)	.	.	PDE4DIP	HGNC	Q5TB27_HUMAN	.	UPI0000237213	SNV	PDE4DIP,missense_variant,p.Ala70Ser,ENST00000369345,;PDE4DIP,missense_variant,p.Ala70Ser,ENST00000369348,;PDE4DIP,missense_variant,p.Ala70Ser,ENST00000369359,;PDE4DIP,missense_variant,p.Ala70Ser,ENST00000530740,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000528552,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533396,;PDE4DIP,missense_variant,p.Ala70Ser,ENST00000526359,;PDE4DIP,missense_variant,p.Ala70Ser,ENST00000528661,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000527063,;	423	202	166	SUCCESS
NUDT17	200035	.	GRCh37	1	145589355	145589355	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	14	132	0	ENST00000334513.5:c.73G>C	p.Gly25Arg	p.G25R	ENST00000334513	NM_001012758.2	25	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS30830.1	73	MUTECT|MUSE|VARSCANS	.	GAGGCCACACA	NONE	.	.	hmmpanther:PTHR22769:SF14,hmmpanther:PTHR22769	.	.	ENSP00000334437	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000334513	Transcript	.	.	ENSG00000186364	26618	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.06)	.	deleterious(0.05)	.	NUD17_HUMAN	NUDT17	HGNC	.	.	UPI0000418EB1	SNV	NUDT17,missense_variant,p.Gly25Arg,ENST00000334513,;POLR3C,downstream_gene_variant,,ENST00000334163,;PIAS3,downstream_gene_variant,,ENST00000393045,;PIAS3,downstream_gene_variant,,ENST00000369298,;POLR3C,downstream_gene_variant,,ENST00000369294,;NUDT17,upstream_gene_variant,,ENST00000444015,;NUDT17,non_coding_transcript_exon_variant,,ENST00000460879,;NUDT17,non_coding_transcript_exon_variant,,ENST00000477878,;PIAS3,downstream_gene_variant,,ENST00000475261,;PIAS3,downstream_gene_variant,,ENST00000472114,;NUDT17,upstream_gene_variant,,ENST00000498192,;	85	132	141	SUCCESS
GJA5	2702	.	GRCh37	1	147230336	147230336	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	88	0	ENST00000271348.2:c.1011T>A	p.Tyr337Ter	p.Y337*	ENST00000271348	NM_005266.6	337	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS929.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGATAGCC	NONE	.	.	Superfamily_domains:0049114	.	.	ENSP00000271348	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000271348	Transcript	.	.	ENSG00000143140	4279	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA5_HUMAN	GJA5	HGNC	.	.	UPI000013D8D2	SNV	GJA5,stop_gained,p.Tyr337Ter,ENST00000271348,;GJA5,stop_gained,p.Tyr337Ter,ENST00000369237,;GJA5,downstream_gene_variant,,ENST00000430508,;RP11-433J22.2,intron_variant,,ENST00000428911,;	1173	88	105	SUCCESS
GJA8	2703	.	GRCh37	1	147380385	147380385	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	43	0	ENST00000369235.1:c.303C>T	p.Arg101=	p.R101=	ENST00000369235		101	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30834.1	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCGCATGGA	NONE	.	.	Gene3D:2zw3A00,Pfam_domain:PF00029,hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	SNV	GJA8,synonymous_variant,p.%3D,ENST00000240986,;GJA8,synonymous_variant,p.%3D,ENST00000369235,;	356	43	85	SUCCESS
NBPF15	284565	.	GRCh37	1	148560989	148560989	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	25	0	ENST00000488031.2:n.439A>G		p.*147*	ENST00000488031				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS932.1	.	MUTECT|VARSCANS	.	CTGCCACCAAC	NONE	.	.	.	.	.	ENSP00000416864	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000442702	Transcript	.	.	ENSG00000243452	28791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NBPFF_HUMAN	NBPF15	HGNC	S4R3H5_HUMAN,B4DRP3_HUMAN	.	UPI000013D89F	SNV	NBPF15,5_prime_UTR_variant,,ENST00000442702,;NBPF15,upstream_gene_variant,,ENST00000369187,;NBPF15,non_coding_transcript_exon_variant,,ENST00000492711,;NBPF15,non_coding_transcript_exon_variant,,ENST00000464336,;NBPF15,non_coding_transcript_exon_variant,,ENST00000478419,;NBPF15,non_coding_transcript_exon_variant,,ENST00000488031,;	147	25	22	SUCCESS
FCGR1A	2209	.	GRCh37	1	149761861	149761861	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	34	177	0	ENST00000369168.4:c.811A>T	p.Lys271Ter	p.K271*	ENST00000369168	NM_000566.3	271	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS933.1	811	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTAAGCGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF11,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358165	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000369168	Transcript	.	.	ENSG00000150337	3613	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FCGR1_HUMAN	FCGR1A	HGNC	.	.	UPI000004A8BE	SNV	FCGR1A,stop_gained,p.Lys179Ter,ENST00000444948,;FCGR1A,stop_gained,p.Lys271Ter,ENST00000369168,;HIST2H2BF,intron_variant,,ENST00000545683,;HIST2H2BF,downstream_gene_variant,,ENST00000427880,;RP11-196G18.3,intron_variant,,ENST00000428289,;RP11-196G18.21,intron_variant,,ENST00000420462,;FCGR1A,upstream_gene_variant,,ENST00000489704,;	865	177	165	SUCCESS
TARS2	80222	.	GRCh37	1	150470091	150470091	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	75	0	ENST00000369064.3:c.1106A>G	p.Glu369Gly	p.E369G	ENST00000369064	NM_025150.4	369	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS952.1	1106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGAGCATT	NONE	.	.	PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451:SF13,hmmpanther:PTHR11451,TIGRFAM_domain:TIGR00418,Pfam_domain:PF00587,Gene3D:3.30.930.10,Superfamily_domains:SSF55681	.	.	ENSP00000358060	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000369064	Transcript	.	.	ENSG00000143374	30740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.08)	.	SYTM_HUMAN	TARS2	HGNC	Q9H045_HUMAN	.	UPI00000492D1	SNV	TARS2,missense_variant,p.Glu239Gly,ENST00000369054,;TARS2,missense_variant,p.Glu369Gly,ENST00000369064,;TARS2,missense_variant,p.Glu287Gly,ENST00000606933,;TARS2,3_prime_UTR_variant,,ENST00000438568,;TARS2,non_coding_transcript_exon_variant,,ENST00000463555,;TARS2,non_coding_transcript_exon_variant,,ENST00000480070,;TARS2,3_prime_UTR_variant,,ENST00000369051,;TARS2,intron_variant,,ENST00000467982,;TARS2,downstream_gene_variant,,ENST00000462578,;TARS2,downstream_gene_variant,,ENST00000460794,;	1140	75	72	SUCCESS
ANXA9	8416	.	GRCh37	1	150958820	150958820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	95	0	ENST00000368947.4:c.481G>A	p.Val161Met	p.V161M	ENST00000368947	NM_003568.2	161	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS975.2	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGTGGAG	NONE	.	.	Superfamily_domains:SSF47874,SMART_domains:SM00335,Gene3D:1.10.220.10,Pfam_domain:PF00191,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF12	.	.	ENSP00000357943	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000368947	Transcript	.	.	ENSG00000143412	547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.08)	.	ANXA9_HUMAN	ANXA9	HGNC	.	.	UPI0000035D92	SNV	ANXA9,missense_variant,p.Val161Met,ENST00000368947,;ANXA9,downstream_gene_variant,,ENST00000474997,;	957	95	89	SUCCESS
PRUNE	0	.	GRCh37	1	150997084	150997084	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	rs768321873	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	87	0	ENST00000271620.3:c.336-3C>G		p.X112_splice	ENST00000271620	NM_021222.1	112		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS977.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACAGAAG	NONE	.	.	.	.	.	ENSP00000271620	.	.	.	.	.	.	.	.	.	.	rs768321873	.	PASS	ENST00000271620	Transcript	.	.	ENSG00000143363	13420	.	.	LOW	3/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRUNE_HUMAN	PRUNE	HGNC	Q5SZF2_HUMAN,B7ZB72_HUMAN	.	UPI000004BF0B	SNV	PRUNE,splice_region_variant,,ENST00000368936,;PRUNE,splice_region_variant,,ENST00000450884,;PRUNE,splice_region_variant,,ENST00000271620,;PRUNE,intron_variant,,ENST00000431193,;PRUNE,intron_variant,,ENST00000368935,;PRUNE,intron_variant,,ENST00000271619,;PRUNE,intron_variant,,ENST00000368937,;PRUNE,upstream_gene_variant,,ENST00000368934,;RNU6-884P,upstream_gene_variant,,ENST00000363889,;PRUNE,splice_region_variant,,ENST00000467771,;PRUNE,intron_variant,,ENST00000475722,;PRUNE,intron_variant,,ENST00000462440,;	.	87	83	SUCCESS
KPRP	448834	.	GRCh37	1	152733284	152733284	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201616422	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	50	89	0	ENST00000606109.1:c.1220G>A	p.Arg407His	p.R407H	ENST00000606109		407	cGt/cAt	0	.	A:0.0015	.	A:0	.	A	R/H	protein_coding	YES	CCDS30862.1	1220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGTCTGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	A:0	.	ENSP00000357762	A:0	2/2	.	.	.	.	.	.	.	.	rs201616422,COSM1334227	2/2	PASS	ENST00000368773	Transcript	.	A:0.0004	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.058)	A:0	tolerated(0.58)	0,1	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Arg407His,ENST00000368773,;KPRP,missense_variant,p.Arg407His,ENST00000606109,;	1278	89	111	SUCCESS
LCE1A	353131	.	GRCh37	1	152799972	152799972	+	synonymous_variant	Silent	SNP	G	G	A	rs767421210	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	308	18	322	0	ENST00000335123.2:c.24G>A	p.Gln8=	p.Q8=	ENST00000335123	NM_178348.2	8	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS1028.1	24	MUTECT|MUSE	.	CAGCAGCAGTG	NONE	.	.	Prints_domain:PR00021,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Low_complexity_(Seg):seg	.	.	ENSP00000334869	.	1/1	.	.	.	.	.	.	.	.	rs767421210	1/1	PASS	ENST00000335123	Transcript	.	.	ENSG00000186844	29459	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCE1A_HUMAN	LCE1A	HGNC	.	.	UPI0000192766	SNV	LCE1A,synonymous_variant,p.%3D,ENST00000335123,;	24	322	326	SUCCESS
GATAD2B	57459	.	GRCh37	1	153784289	153784289	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	40	90	0	ENST00000368655.4:c.1566A>G	p.Ile522Met	p.I522M	ENST00000368655	NM_020699.2	522	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1054.1	1566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGTATGCC	NONE	.	.	hmmpanther:PTHR13455:SF4,hmmpanther:PTHR13455	.	.	ENSP00000357644	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000368655	Transcript	.	.	ENSG00000143614	30778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.14)	.	P66B_HUMAN	GATAD2B	HGNC	.	.	UPI0000071E1B	SNV	GATAD2B,missense_variant,p.Ile522Met,ENST00000368655,;	1810	90	103	SUCCESS
DENND4B	9909	.	GRCh37	1	153912225	153912225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	88	0	ENST00000361217.4:c.1659G>T	p.Glu553Asp	p.E553D	ENST00000361217	NM_014856.2	553	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS44228.1	1659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCTCGTA	NONE	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF18	.	.	ENSP00000354597	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000361217	Transcript	.	.	ENSG00000198837	29044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(1)	.	DEN4B_HUMAN	DENND4B	HGNC	.	.	UPI000047EA3E	SNV	DENND4B,missense_variant,p.Glu564Asp,ENST00000368646,;DENND4B,missense_variant,p.Glu553Asp,ENST00000361217,;DENND4B,downstream_gene_variant,,ENST00000472932,;DENND4B,non_coding_transcript_exon_variant,,ENST00000485359,;DENND4B,downstream_gene_variant,,ENST00000464048,;DENND4B,downstream_gene_variant,,ENST00000494683,;DENND4B,upstream_gene_variant,,ENST00000477746,;DENND4B,downstream_gene_variant,,ENST00000483561,;	2078	88	60	SUCCESS
KAZN	23254	.	GRCh37	1	15392494	15392494	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	11	0	ENST00000376030.2:c.1222+245G>A		p.*408*	ENST00000376030	NM_201628.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS152.2	.	MUTECT|MUSE	.	CCTCTGTAATT	NONE	.	.	.	.	.	ENSP00000365198	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376030	Transcript	.	.	ENSG00000189337	29173	.	.	MODIFIER	8/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAZRN_HUMAN	KAZN	HGNC	B4DEV2_HUMAN,B0QYQ6_HUMAN	.	UPI0000E1E68A	SNV	KAZN,3_prime_UTR_variant,,ENST00000361144,;KAZN,3_prime_UTR_variant,,ENST00000422387,;KAZN,3_prime_UTR_variant,,ENST00000400798,;KAZN,intron_variant,,ENST00000376030,;KAZN,downstream_gene_variant,,ENST00000400797,;KAZN,downstream_gene_variant,,ENST00000503743,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;	.	11	11	SUCCESS
UBE2Q1	55585	.	GRCh37	1	154527247	154527247	+	synonymous_variant	Silent	SNP	G	G	A	rs372396696	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	91	252	0	ENST00000292211.4:c.552C>T	p.Asp184=	p.D184=	ENST00000292211	NM_017582.6	184	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS1069.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGTCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24068:SF46,hmmpanther:PTHR24068	.	.	ENSP00000292211	.	4/13	.	.	.	.	.	.	.	.	COSM1269632	4/13	PASS	ENST00000292211	Transcript	.	.	ENSG00000160714	15698	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UB2Q1_HUMAN	UBE2Q1	HGNC	Q29SN7_HUMAN	.	UPI00001A36E2	SNV	UBE2Q1,synonymous_variant,p.%3D,ENST00000292211,;UBE2Q1-AS1,non_coding_transcript_exon_variant,,ENST00000441613,;UBE2Q1,non_coding_transcript_exon_variant,,ENST00000497453,;UBE2Q1,upstream_gene_variant,,ENST00000491572,;UBE2Q1,upstream_gene_variant,,ENST00000476612,;UBE2Q1,upstream_gene_variant,,ENST00000467683,;UBE2Q1,upstream_gene_variant,,ENST00000483639,;UBE2Q1,upstream_gene_variant,,ENST00000474181,;	632	252	248	SUCCESS
CHRNB2	1141	.	GRCh37	1	154542783	154542783	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	119	0	ENST00000368476.3:c.305T>C	p.Met102Thr	p.M102T	ENST00000368476	NM_000748.2	102	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS1070.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATGAAGA	NONE	.	.	hmmpanther:PTHR18945:SF80,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00254	.	.	ENSP00000357461	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368476	Transcript	.	.	ENSG00000160716	1962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	deleterious(0)	.	ACHB2_HUMAN	CHRNB2	HGNC	Q5SXY3_HUMAN	.	UPI000012526E	SNV	CHRNB2,missense_variant,p.Met102Thr,ENST00000368476,;	569	119	114	SUCCESS
PKLR	5313	.	GRCh37	1	155261612	155261612	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771218326	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	91	253	0	ENST00000342741.4:c.1553G>A	p.Arg518His	p.R518H	ENST00000342741	NM_000298.5	518	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS1109.1	1553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCACGGTAA	NONE	.	.	hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF9,Pfam_domain:PF02887,TIGRFAM_domain:TIGR01064,Gene3D:3.40.1380.20,Superfamily_domains:SSF52935	.	.	ENSP00000339933	.	10/11	.	.	.	.	.	.	.	.	rs771218326	10/11	PASS	ENST00000342741	Transcript	.	.	ENSG00000143627	9020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.14)	.	KPYR_HUMAN	PKLR	HGNC	Q16715_HUMAN,B4DPM0_HUMAN	.	UPI0000001292	SNV	PKLR,missense_variant,p.Arg518His,ENST00000342741,;PKLR,missense_variant,p.Arg487His,ENST00000392414,;HCN3,downstream_gene_variant,,ENST00000368358,;HCN3,downstream_gene_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000492035,;HCN3,downstream_gene_variant,,ENST00000467204,;PKLR,downstream_gene_variant,,ENST00000434082,;	1592	253	249	SUCCESS
FDPS	2224	.	GRCh37	1	155282158	155282158	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	54	0	ENST00000356657.6:c.452C>T	p.Ala151Val	p.A151V	ENST00000356657	NM_001135821.1	151	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1110.1	452	MUTECT|MUSE|VARSCANS	.	GCGGGCCTGGA	NONE	.	.	hmmpanther:PTHR11525:SF0,hmmpanther:PTHR11525,Pfam_domain:PF00348,Gene3D:1.10.600.10,Superfamily_domains:SSF48576	.	.	ENSP00000349078	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000356657	Transcript	.	.	ENSG00000160752	3631	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.223)	.	tolerated(0.07)	.	FPPS_HUMAN	FDPS	HGNC	.	.	UPI000006E4F7	SNV	FDPS,missense_variant,p.Ala151Val,ENST00000356657,;FDPS,missense_variant,p.Ala85Val,ENST00000447866,;FDPS,missense_variant,p.Ala151Val,ENST00000368356,;RUSC1-AS1,downstream_gene_variant,,ENST00000446880,;FDPS,non_coding_transcript_exon_variant,,ENST00000470171,;FDPS,non_coding_transcript_exon_variant,,ENST00000467076,;FDPS,non_coding_transcript_exon_variant,,ENST00000489003,;FDPS,non_coding_transcript_exon_variant,,ENST00000495308,;FDPS,non_coding_transcript_exon_variant,,ENST00000474345,;FDPS,non_coding_transcript_exon_variant,,ENST00000468479,;FDPS,non_coding_transcript_exon_variant,,ENST00000461507,;FDPS,non_coding_transcript_exon_variant,,ENST00000465559,;FDPS,non_coding_transcript_exon_variant,,ENST00000471117,;FDPS,non_coding_transcript_exon_variant,,ENST00000477057,;FDPS,non_coding_transcript_exon_variant,,ENST00000491013,;FDPS,non_coding_transcript_exon_variant,,ENST00000487002,;	614	54	59	SUCCESS
TMEM51	55092	.	GRCh37	1	15541641	15541641	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147062114	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	41	0	ENST00000376008.2:c.58G>T	p.Gly20Trp	p.G20W	ENST00000376008		20	Ggg/Tgg	0	T:0.0002	.	.	.	.	T	G/W	protein_coding	YES	CCDS154.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGGGATG	NONE	.	.	Pfam_domain:PF15345,hmmpanther:PTHR16015,Transmembrane_helices:TMhelix	.	T:0	ENSP00000394899	.	2/3	.	.	.	.	.	.	.	.	rs147062114	2/3	PASS	ENST00000428417	Transcript	.	.	ENSG00000171729	25488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMM51_HUMAN	TMEM51	HGNC	B1AP03_HUMAN	.	UPI0000073712	SNV	TMEM51,missense_variant,p.Gly20Trp,ENST00000434578,;TMEM51,missense_variant,p.Gly20Trp,ENST00000400796,;TMEM51,missense_variant,p.Gly20Trp,ENST00000376014,;TMEM51,missense_variant,p.Gly20Trp,ENST00000376008,;TMEM51,missense_variant,p.Gly20Trp,ENST00000451326,;TMEM51,missense_variant,p.Gly20Trp,ENST00000428417,;	504	41	59	SUCCESS
ASH1L	55870	.	GRCh37	1	155450461	155450461	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762143869	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	70	0	ENST00000368346.3:c.2200C>A	p.Leu734Ile	p.L734I	ENST00000368346		734	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1113.2	2200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGCCCTT	NONE	byFrequency	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	rs762143869	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Leu734Ile,ENST00000368346,;ASH1L,missense_variant,p.Leu734Ile,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000548830,;	2679	70	70	SUCCESS
ASH1L	55870	.	GRCh37	1	155452064	155452064	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	114	0	ENST00000368346.3:c.597C>T	p.Ser199=	p.S199=	ENST00000368346		199	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS1113.2	597	MUTECT|MUSE	.	TCCCGGCTACC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,synonymous_variant,p.%3D,ENST00000368346,;ASH1L,synonymous_variant,p.%3D,ENST00000392403,;ASH1L,3_prime_UTR_variant,,ENST00000548830,;	1076	114	111	SUCCESS
LMNA	4000	.	GRCh37	1	156106161	156106161	+	synonymous_variant	Silent	SNP	G	G	T	rs774817302	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	86	0	ENST00000368300.4:c.1314G>T	p.Gly438=	p.G438=	ENST00000368300	NM_170707.3	438	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1129.1	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGGCGCGT	NONE	byFrequency	.	hmmpanther:PTHR23239:SF158,hmmpanther:PTHR23239,Gene3D:2.60.40.1260,Pfam_domain:PF00932,Superfamily_domains:SSF74853	.	.	ENSP00000357283	.	7/12	.	.	.	.	.	.	.	.	rs774817302	7/12	PASS	ENST00000368300	Transcript	.	.	ENSG00000160789	6636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMNA_HUMAN	LMNA	HGNC	Q5I6Y5_HUMAN	.	UPI000012E20D	SNV	LMNA,synonymous_variant,p.%3D,ENST00000392353,;LMNA,synonymous_variant,p.%3D,ENST00000368299,;LMNA,synonymous_variant,p.%3D,ENST00000347559,;LMNA,synonymous_variant,p.%3D,ENST00000368301,;LMNA,synonymous_variant,p.%3D,ENST00000473598,;LMNA,synonymous_variant,p.%3D,ENST00000368297,;LMNA,synonymous_variant,p.%3D,ENST00000508500,;LMNA,synonymous_variant,p.%3D,ENST00000448611,;LMNA,synonymous_variant,p.%3D,ENST00000361308,;LMNA,synonymous_variant,p.%3D,ENST00000368300,;LMNA,downstream_gene_variant,,ENST00000504687,;LMNA,non_coding_transcript_exon_variant,,ENST00000459904,;LMNA,non_coding_transcript_exon_variant,,ENST00000496738,;LMNA,downstream_gene_variant,,ENST00000502357,;LMNA,downstream_gene_variant,,ENST00000502751,;LMNA,downstream_gene_variant,,ENST00000470199,;LMNA,downstream_gene_variant,,ENST00000469565,;LMNA,non_coding_transcript_exon_variant,,ENST00000498722,;LMNA,non_coding_transcript_exon_variant,,ENST00000368298,;LMNA,upstream_gene_variant,,ENST00000506981,;LMNA,downstream_gene_variant,,ENST00000515824,;LMNA,downstream_gene_variant,,ENST00000515459,;	1526	86	68	SUCCESS
RP3-467K16.2	0	.	GRCh37	1	15655660	15655660	+	non_coding_transcript_exon_variant	RNA	DEL	A	A	-	rs200514201	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	33	0	ENST00000428747.1:n.621del		p.*207*	ENST00000428747				0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR|VARSCANI	.	AGTATTAAAAAA	NONE	by1000G	.	.	.	.	ENSP00000365163	.	.	.	.	.	.	.	.	.	.	rs200514201	.	PASS	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	8	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	deletion	FHAD1,intron_variant,,ENST00000375997,;FHAD1,intron_variant,,ENST00000401090,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000358897,;FHAD1,intron_variant,,ENST00000375995,;FHAD1,intron_variant,,ENST00000375998,;FHAD1,intron_variant,,ENST00000375999,;FHAD1,downstream_gene_variant,,ENST00000524761,;RP3-467K16.2,non_coding_transcript_exon_variant,,ENST00000428747,;FHAD1,intron_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000459961,;FHAD1,intron_variant,,ENST00000472131,;FHAD1,intron_variant,,ENST00000375996,;	.	33	25	SUCCESS
INSRR	3645	.	GRCh37	1	156814001	156814001	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	38	69	0	ENST00000368195.3:c.2809C>A	p.Leu937Ile	p.L937I	ENST00000368195	NM_014215.2	937	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1160.1	2809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAGAACGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000620	.	.	ENSP00000357178	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.33)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Leu937Ile,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	3206	69	68	SUCCESS
FHAD1	114827	.	GRCh37	1	15702219	15702219	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	107	0	ENST00000358897.4:c.3632T>A	p.Ile1211Asn	p.I1211N	ENST00000358897	NM_052929.1	1211	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	.	.	1337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATCCTAG	BUFFER|p.?|c.3639+1G>T|3	.	.	hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853	.	.	ENSP00000318812	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000314668	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.09)	.	.	FHAD1	HGNC	Q5JYW6_HUMAN	.	UPI00003728D4	SNV	FHAD1,missense_variant,p.Ile446Asn,ENST00000314668,;FHAD1,missense_variant,p.Ile464Asn,ENST00000314740,;FHAD1,missense_variant,p.Ile1175Asn,ENST00000417793,;FHAD1,missense_variant,p.Ile1211Asn,ENST00000358897,;FHAD1,missense_variant,p.Ile1211Asn,ENST00000375998,;FHAD1,missense_variant,p.Ile530Asn,ENST00000444385,;FHAD1,missense_variant,p.Ile1211Asn,ENST00000375999,;FHAD1,missense_variant,p.Ile482Asn,ENST00000529606,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000477846,;FHAD1,missense_variant,p.Ile228Asn,ENST00000481324,;	1337	107	86	SUCCESS
FCRL3	115352	.	GRCh37	1	157667001	157667001	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	39	100	1	ENST00000368184.3:c.773A>G	p.Tyr258Cys	p.Y258C	ENST00000368184	NM_052939.3	258	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1167.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGTAAGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF35,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357167	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,missense_variant,p.Tyr258Cys,ENST00000368186,;FCRL3,missense_variant,p.Tyr258Cys,ENST00000368184,;FCRL3,downstream_gene_variant,,ENST00000496769,;RP11-367J7.3,downstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,non_coding_transcript_exon_variant,,ENST00000478179,;FCRL3,missense_variant,p.Tyr258Cys,ENST00000485028,;FCRL3,missense_variant,p.Tyr258Cys,ENST00000492769,;FCRL3,intron_variant,,ENST00000477837,;	1065	101	105	SUCCESS
FCRL1	115350	.	GRCh37	1	157772454	157772454	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	63	0	ENST00000368176.3:c.320G>T	p.Arg107Met	p.R107M	ENST00000368176	NM_001159398.1	107	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS1170.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCCTGTG	NONE	.	.	hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481,Gene3D:2.60.40.10	.	.	ENSP00000357158	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Arg107Met,ENST00000368176,;FCRL1,missense_variant,p.Arg107Met,ENST00000358292,;FCRL1,missense_variant,p.Arg107Met,ENST00000491942,;FCRL1,splice_region_variant,,ENST00000368175,;FCRL1,splice_region_variant,,ENST00000489998,;FCRL1,downstream_gene_variant,,ENST00000480310,;FCRL1,upstream_gene_variant,,ENST00000495126,;FCRL1,upstream_gene_variant,,ENST00000463001,;	388	63	69	SUCCESS
KIRREL	0	.	GRCh37	1	157963402	157963402	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	3	83	0	ENST00000359209.6:c.-65G>T		p.*22*	ENST00000359209				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1172.2	.	MUTECT|MUSE	.	AGCCCGCTCCT	NONE	.	.	.	.	.	ENSP00000352138	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,5_prime_UTR_variant,,ENST00000360089,;KIRREL,5_prime_UTR_variant,,ENST00000368173,;KIRREL,5_prime_UTR_variant,,ENST00000359209,;KIRREL,5_prime_UTR_variant,,ENST00000392272,;KIRREL,upstream_gene_variant,,ENST00000416935,;	3	84	76	SUCCESS
OR10R2	343406	.	GRCh37	1	158449993	158449993	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200874337	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	89	0	ENST00000368152.1:c.326C>T	p.Ala109Val	p.A109V	ENST00000368152	NM_001004472.1	109	gCc/gTc	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS30898.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCCAGGA	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF42,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	T:0.0001	ENSP00000357134	.	1/1	.	.	.	.	.	.	.	.	rs200874337,COSM83939	1/1	PASS	ENST00000368152	Transcript	.	.	ENSG00000198965	14820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	.	tolerated(0.36)	0,1	O10R2_HUMAN	OR10R2	HGNC	.	.	UPI000004CA1C	SNV	OR10R2,missense_variant,p.Ala109Val,ENST00000368152,;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	326	89	94	SUCCESS
IGSF9	57549	.	GRCh37	1	159897228	159897228	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	103	304	0	ENST00000368094.1:c.3447C>A	p.Phe1149Leu	p.F1149L	ENST00000368094	NM_001135050.1	1149	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS44254.1	3447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGAATTC	BUFFER|p.R1130W|c.3388C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF534,hmmpanther:PTHR10489	.	.	ENSP00000357073	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000368094	Transcript	.	.	ENSG00000085552	18132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0.04)	.	TUTLA_HUMAN	IGSF9	HGNC	Q6XYD8_HUMAN	.	UPI000004A10B	SNV	IGSF9,missense_variant,p.Phe1149Leu,ENST00000368094,;IGSF9,missense_variant,p.Phe1133Leu,ENST00000361509,;TAGLN2,upstream_gene_variant,,ENST00000397334,;TAGLN2,upstream_gene_variant,,ENST00000368097,;TAGLN2,upstream_gene_variant,,ENST00000368096,;TAGLN2,upstream_gene_variant,,ENST00000320307,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,non_coding_transcript_exon_variant,,ENST00000493195,;IGSF9,non_coding_transcript_exon_variant,,ENST00000496645,;TAGLN2,upstream_gene_variant,,ENST00000478033,;	3645	304	297	SUCCESS
ATP1A2	477	.	GRCh37	1	160109518	160109518	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	78	0	ENST00000361216.3:c.2929A>T	p.Met977Leu	p.M977L	ENST00000361216	NM_000702.3	977	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS1196.1	2929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCATGTAC	NONE	.	.	hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Superfamily_domains:0049473	.	.	ENSP00000354490	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.16)	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,missense_variant,p.Met977Leu,ENST00000361216,;ATP1A2,missense_variant,p.Met977Leu,ENST00000392233,;ATP1A2,missense_variant,p.Met671Leu,ENST00000447527,;ATP1A2,upstream_gene_variant,,ENST00000459972,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000463989,;ATP1A2,downstream_gene_variant,,ENST00000472488,;	3018	78	79	SUCCESS
SLAMF1	6504	.	GRCh37	1	160604472	160604472	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757836091	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	67	158	0	ENST00000302035.6:c.631G>A	p.Val211Met	p.V211M	ENST00000302035	NM_003037.2	211	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS1207.1	631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACGGTGC	NONE	.	.	Superfamily_domains:SSF48726,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000306190	.	3/7	.	.	.	.	.	.	.	.	rs757836091,COSM898337	3/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.915)	.	deleterious(0)	0,1	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,missense_variant,p.Val211Met,ENST00000538290,;SLAMF1,missense_variant,p.Val211Met,ENST00000235739,;SLAMF1,missense_variant,p.Val211Met,ENST00000355199,;SLAMF1,missense_variant,p.Val211Met,ENST00000302035,;SLAMF1,downstream_gene_variant,,ENST00000494463,;	981	158	135	SUCCESS
RPL31P11	641311	.	GRCh37	1	161654816	161654816	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	15	0	ENST00000426558.1:n.227C>T		p.*76*	ENST00000426558				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TGCGCGCATCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426558	Transcript	.	.	ENSG00000213075	35849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RPL31P11	HGNC	.	.	.	SNV	RPL31P11,non_coding_transcript_exon_variant,,ENST00000426558,;RPL31P11,non_coding_transcript_exon_variant,,ENST00000454082,;	227	15	18	SUCCESS
CLCNKB	1188	.	GRCh37	1	16377520	16377520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	132	0	ENST00000375679.4:c.1204C>A	p.Leu402Ile	p.L402I	ENST00000375679	NM_000085.4	402	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS168.1	1204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCTTGCC	NONE	.	.	Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689:SF78,hmmpanther:PTHR11689,Transmembrane_helices:TMhelix	.	.	ENSP00000364831	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000375679	Transcript	.	.	ENSG00000184908	2027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	CLCKB_HUMAN	CLCNKB	HGNC	.	.	UPI000040E261	SNV	CLCNKB,missense_variant,p.Leu402Ile,ENST00000375679,;CLCNKB,missense_variant,p.Leu233Ile,ENST00000375667,;CLCNKB,upstream_gene_variant,,ENST00000431772,;	1315	132	118	SUCCESS
METTL11B	149281	.	GRCh37	1	170115226	170115226	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	40	0	ENST00000439373.2:c.-23A>G		p.*8*	ENST00000439373	NM_001136107.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44275.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGAATCAT	NONE	.	.	.	.	.	ENSP00000408058	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000439373	Transcript	.	.	ENSG00000203740	31932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTM1B_HUMAN	METTL11B	HGNC	.	.	UPI0000418EF1	SNV	METTL11B,5_prime_UTR_variant,,ENST00000439373,;	85	40	43	SUCCESS
PRRC2C	23215	.	GRCh37	1	171501935	171501935	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	102	281	0	ENST00000338920.4:c.1702G>C	p.Glu568Gln	p.E568Q	ENST00000338920	NM_015172.3	568	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS1296.2	1702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTAGAACGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038	.	.	ENSP00000343629	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,missense_variant,p.Glu568Gln,ENST00000338920,;PRRC2C,missense_variant,p.Glu570Gln,ENST00000367742,;PRRC2C,missense_variant,p.Glu568Gln,ENST00000426496,;PRRC2C,missense_variant,p.Glu570Gln,ENST00000392078,;PRRC2C,downstream_gene_variant,,ENST00000476522,;	1939	281	276	SUCCESS
PRRC2C	23215	.	GRCh37	1	171514805	171514805	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	428	237	642	0	ENST00000338920.4:c.4945T>C	p.Phe1649Leu	p.F1649L	ENST00000338920	NM_015172.3	1649	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1296.2	4945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTTTGAT	NONE	.	.	hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038	.	.	ENSP00000343629	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,missense_variant,p.Phe1649Leu,ENST00000338920,;PRRC2C,missense_variant,p.Phe1651Leu,ENST00000367742,;PRRC2C,missense_variant,p.Phe1649Leu,ENST00000426496,;PRRC2C,missense_variant,p.Phe1651Leu,ENST00000392078,;PRRC2C,missense_variant,p.Phe197Leu,ENST00000495585,;	5182	643	666	SUCCESS
ATP13A2	23400	.	GRCh37	1	17328825	17328825	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760715676	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	142	308	0	ENST00000326735.8:c.601C>T	p.Arg201Cys	p.R201C	ENST00000326735		201	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS175.1	601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGGGAGC	NONE	byFrequency	.	hmmpanther:PTHR24093:SF86,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473	.	.	ENSP00000327214	.	7/29	.	.	.	.	.	.	.	.	rs760715676	7/29	PASS	ENST00000326735	Transcript	.	.	ENSG00000159363	30213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.3)	.	AT132_HUMAN	ATP13A2	HGNC	Q8N4D4_HUMAN	.	UPI0000049724	SNV	ATP13A2,missense_variant,p.Arg196Cys,ENST00000452699,;ATP13A2,missense_variant,p.Arg188Cys,ENST00000509619,;ATP13A2,missense_variant,p.Arg196Cys,ENST00000341676,;ATP13A2,missense_variant,p.Arg108Cys,ENST00000508222,;ATP13A2,missense_variant,p.Arg201Cys,ENST00000326735,;ATP13A2,missense_variant,p.Arg105Cys,ENST00000511957,;ATP13A2,missense_variant,p.Arg176Cys,ENST00000510069,;ATP13A2,upstream_gene_variant,,ENST00000506174,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,upstream_gene_variant,,ENST00000502860,;ATP13A2,upstream_gene_variant,,ENST00000463860,;	635	308	314	SUCCESS
PADI2	11240	.	GRCh37	1	17418998	17418998	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372515836	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	108	0	ENST00000375486.4:c.560G>T	p.Arg187Leu	p.R187L	ENST00000375486	NM_007365.2	187	cGg/cTg	0	T:0.0002	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS177.1	560	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCGCAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10837:SF1,hmmpanther:PTHR10837,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,Superfamily_domains:0044952	T:0	T:0	ENSP00000364635	T:0	6/16	.	.	.	.	.	.	.	.	rs372515836,COSM2075966,COSM4025255	6/16	PASS	ENST00000375486	Transcript	.	T:0.0002	ENSG00000117115	18341	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.972)	T:0.001	deleterious(0.02)	0,1,1	PADI2_HUMAN	PADI2	HGNC	Q96DA7_HUMAN	.	UPI00001314AF	SNV	PADI2,missense_variant,p.Arg187Leu,ENST00000375486,;PADI2,missense_variant,p.Arg187Leu,ENST00000375481,;PADI2,intron_variant,,ENST00000444885,;	624	108	102	SUCCESS
RABGAP1L	9910	.	GRCh37	1	174606551	174606551	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	160	363	0	ENST00000251507.4:c.1749T>C	p.His583=	p.H583=	ENST00000251507	NM_014857.4	583	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS1314.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATCGTAC	NONE	.	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Gene3D:2qq8A02,Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF205,PROSITE_profiles:PS50086	.	.	ENSP00000251507	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000251507	Transcript	.	.	ENSG00000152061	24663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBG1L_HUMAN	RABGAP1L	HGNC	F1LJ00_HUMAN	.	UPI0000458A9F	SNV	RABGAP1L,synonymous_variant,p.%3D,ENST00000251507,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000526253,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000474375,;	1923	364	383	SUCCESS
PADI1	29943	.	GRCh37	1	17555492	17555492	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	54	0	ENST00000375471.4:c.879del	p.Trp294GlyfsTer3	p.W294Gfs*3	ENST00000375471	NM_013358.2	292	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS178.1	875	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATGGCCCCCT	NONE	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364620	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	deletion	PADI1,frameshift_variant,p.Trp294GlyfsTer3,ENST00000375471,;PADI1,upstream_gene_variant,,ENST00000537499,;PADI1,upstream_gene_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000413717,;PADI1,downstream_gene_variant,,ENST00000483501,;	967	54	75	SUCCESS
RASAL2	9462	.	GRCh37	1	178359259	178359259	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764865700	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	144	323	1	ENST00000462775.1:c.38G>A	p.Arg13His	p.R13H	ENST00000462775	NM_004841.3	13	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS1321.2	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGTAGAC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF00169,SMART_domains:SM00233	.	.	ENSP00000356621	.	4/18	.	.	.	.	.	.	.	.	rs764865700	4/18	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.05)	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,missense_variant,p.Arg13His,ENST00000462775,;RASAL2,missense_variant,p.Arg161His,ENST00000367649,;RASAL2,missense_variant,p.Arg143His,ENST00000448150,;	834	325	346	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17983183	17983183	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	35	150	0	ENST00000361221.3:c.2840C>A	p.Ala947Asp	p.A947D	ENST00000361221	NM_018125.3	947	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS182.1	2840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCTGCTT	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000355060	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	deleterious(0)	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,missense_variant,p.Ala947Asp,ENST00000361221,;ARHGEF10L,missense_variant,p.Ala720Asp,ENST00000375408,;ARHGEF10L,missense_variant,p.Ala650Asp,ENST00000167825,;ARHGEF10L,missense_variant,p.Ala908Asp,ENST00000375415,;ARHGEF10L,missense_variant,p.Ala942Asp,ENST00000434513,;ARHGEF10L,missense_variant,p.Ala908Asp,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,downstream_gene_variant,,ENST00000466782,;	2999	150	144	SUCCESS
CACNA1E	777	.	GRCh37	1	181680167	181680167	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs575157426	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	87	0	ENST00000367573.2:c.1133G>A	p.Arg378His	p.R378H	ENST00000367573	NM_001205293.1	378	cGt/cAt	0	.	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS55664.1	1133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGTGAGC	NONE	by1000G	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	A:0	.	ENSP00000356545	A:0	8/48	.	.	.	.	.	.	.	.	rs575157426,COSM1199253,COSM1199252	8/48	PASS	ENST00000367573	Transcript	.	A:0.0002	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.522)	A:0	deleterious(0.03)	0,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Arg378His,ENST00000360108,;CACNA1E,missense_variant,p.Arg378His,ENST00000524607,;CACNA1E,missense_variant,p.Arg329His,ENST00000358338,;CACNA1E,missense_variant,p.Arg329His,ENST00000357570,;CACNA1E,missense_variant,p.Arg378His,ENST00000526775,;CACNA1E,missense_variant,p.Arg378His,ENST00000367570,;CACNA1E,missense_variant,p.Arg378His,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;	1133	87	68	SUCCESS
GLUL	2752	.	GRCh37	1	182354697	182354697	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	47	193	0	ENST00000311223.5:c.604-6T>C		p.X202_splice	ENST00000311223	NM_002065.5	202		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1344.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGAAACGAG	NONE	.	.	.	.	.	ENSP00000307900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311223	Transcript	.	.	ENSG00000135821	4341	.	.	LOW	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLNA_HUMAN	GLUL	HGNC	B4DWM6_HUMAN,A8YXX4_HUMAN	.	UPI000012B6E3	SNV	GLUL,splice_region_variant,,ENST00000311223,;GLUL,splice_region_variant,,ENST00000417584,;GLUL,splice_region_variant,,ENST00000331872,;GLUL,splice_region_variant,,ENST00000339526,;GLUL,splice_region_variant,,ENST00000463851,;GLUL,splice_region_variant,,ENST00000484996,;GLUL,splice_region_variant,,ENST00000461447,;GLUL,non_coding_transcript_exon_variant,,ENST00000491322,;GLUL,downstream_gene_variant,,ENST00000475808,;GLUL,downstream_gene_variant,,ENST00000462444,;GLUL,downstream_gene_variant,,ENST00000489818,;GLUL,downstream_gene_variant,,ENST00000480604,;	.	193	216	SUCCESS
DHX9	1660	.	GRCh37	1	182812563	182812563	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs750920107	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	30	67	0	ENST00000367549.3:c.249del	p.Phe83LeufsTer3	p.F83Lfs*3	ENST00000367549	NM_001357.4	82	gcT/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS41444.1	246	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCAGCTTTTGG	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934	.	.	ENSP00000356520	.	3/28	.	.	.	.	.	.	.	.	rs750920107	3/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	deletion	DHX9,frameshift_variant,p.Phe83LeufsTer3,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000483416,;	356	67	107	SUCCESS
LAMC2	3918	.	GRCh37	1	183204833	183204833	+	synonymous_variant	Silent	SNP	G	G	A	rs1439094815	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	90	159	0	ENST00000264144.4:c.2424G>A	p.Pro808=	p.P808=	ENST00000264144	NM_005562.2	808	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1352.1	2424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGGACGG	NONE	.	.	hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	.	.	ENSP00000264144	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,synonymous_variant,p.%3D,ENST00000264144,;LAMC2,synonymous_variant,p.%3D,ENST00000493293,;LAMC2,upstream_gene_variant,,ENST00000461729,;	2489	159	185	SUCCESS
EDEM3	80267	.	GRCh37	1	184688333	184688333	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	103	0	ENST00000318130.8:c.1124T>C	p.Leu375Ser	p.L375S	ENST00000318130	NM_025191.3	375	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS1363.2	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATAACATT	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF30,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000318147	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000318130	Transcript	.	.	ENSG00000116406	16787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	EDEM3_HUMAN	EDEM3	HGNC	Q7L2Y5_HUMAN,H0Y498_HUMAN	.	UPI0000470A2B	SNV	EDEM3,missense_variant,p.Leu332Ser,ENST00000367512,;EDEM3,missense_variant,p.Leu375Ser,ENST00000318130,;EDEM3,downstream_gene_variant,,ENST00000474725,;	1391	103	96	SUCCESS
PRG4	10216	.	GRCh37	1	186276994	186276994	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	93	0	ENST00000445192.2:c.2143A>G	p.Thr715Ala	p.T715A	ENST00000445192	NM_005807.3	715	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1369.1	2143	MUTECT|MUSE	.	CTCCAACTACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1	.	.	ENSP00000399679	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,missense_variant,p.Thr581Ala,ENST00000367482,;PRG4,missense_variant,p.Thr672Ala,ENST00000367486,;PRG4,missense_variant,p.Thr674Ala,ENST00000367483,;PRG4,missense_variant,p.Thr622Ala,ENST00000367485,;PRG4,missense_variant,p.Thr715Ala,ENST00000445192,;PRG4,intron_variant,,ENST00000367484,;TPR,downstream_gene_variant,,ENST00000367478,;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	2188	93	105	SUCCESS
F13B	2165	.	GRCh37	1	197026474	197026474	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	9	164	0	ENST00000367412.1:c.927T>C	p.His309=	p.H309=	ENST00000367412	NM_001994.2	309	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS1388.1	927	MUTECT|MUSE	.	GACCCATGGAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356382	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000367412	Transcript	.	.	ENSG00000143278	3534	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F13B_HUMAN	F13B	HGNC	.	.	UPI000013D8E0	SNV	F13B,synonymous_variant,p.%3D,ENST00000367412,;	971	164	181	SUCCESS
ASPM	259266	.	GRCh37	1	197070523	197070524	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs797045316	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	36	0	ENST00000367409.4:c.7857dup	p.Gln2620ThrfsTer17	p.Q2620Tfs*17	ENST00000367409	NM_018136.4	2619	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS1389.1	7857-7858	INDELOCATOR|VARSCANI	.	AATCTGTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069	.	.	ENSP00000356379	.	18/28	.	.	.	.	.	.	.	.	COSM1337549	18/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	insertion	ASPM,frameshift_variant,p.Gln2620ThrfsTer17,ENST00000367409,;ASPM,intron_variant,,ENST00000367408,;ASPM,intron_variant,,ENST00000294732,;	8114-8115	36	34	SUCCESS
ASPM	259266	.	GRCh37	1	197113197	197113197	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	53	148	0	ENST00000367409.4:c.331A>G	p.Thr111Ala	p.T111A	ENST00000367409	NM_018136.4	111	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS1389.1	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTCCAGT	NONE	.	.	.	.	.	ENSP00000356379	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	deleterious(0.02)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Thr111Ala,ENST00000367409,;ASPM,missense_variant,p.Thr111Ala,ENST00000294732,;RP11-32D17.4,upstream_gene_variant,,ENST00000442280,;	588	148	167	SUCCESS
C1orf106	0	.	GRCh37	1	200880637	200880637	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1557970148	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	91	222	0	ENST00000413687.2:c.1016G>A	p.Arg339His	p.R339H	ENST00000413687	NM_001142569.2	339	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS44292.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGCCGCC	NONE	.	.	hmmpanther:PTHR16093:SF4,hmmpanther:PTHR16093	.	.	ENSP00000392105	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000413687	Transcript	.	.	ENSG00000163362	25599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CA106_HUMAN	C1orf106	HGNC	E9PK29_HUMAN,C9JAT8_HUMAN	.	UPI0000204714	SNV	C1orf106,missense_variant,p.Arg424His,ENST00000367342,;C1orf106,missense_variant,p.Arg339His,ENST00000413687,;C1orf106,non_coding_transcript_exon_variant,,ENST00000526172,;C1orf106,downstream_gene_variant,,ENST00000531649,;C1orf106,upstream_gene_variant,,ENST00000465162,;	1377	222	229	SUCCESS
NAV1	89796	.	GRCh37	1	201752586	201752586	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	107	0	ENST00000367296.4:c.2410G>A	p.Val804Ile	p.V804I	ENST00000367296	NM_020443.4	804	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1414.2	2410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGGTCAAC	NONE	.	.	hmmpanther:PTHR12784:SF3,hmmpanther:PTHR12784	.	.	ENSP00000356265	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000367296	Transcript	.	.	ENSG00000134369	15989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	tolerated(0.1)	.	NAV1_HUMAN	NAV1	HGNC	.	.	UPI00004562D4	SNV	NAV1,missense_variant,p.Val804Ile,ENST00000367297,;NAV1,missense_variant,p.Val804Ile,ENST00000367300,;NAV1,missense_variant,p.Val804Ile,ENST00000295624,;NAV1,missense_variant,p.Val362Ile,ENST00000430015,;NAV1,missense_variant,p.Val817Ile,ENST00000367302,;NAV1,missense_variant,p.Val804Ile,ENST00000367296,;NAV1,missense_variant,p.Val413Ile,ENST00000367295,;NAV1,upstream_gene_variant,,ENST00000438083,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,non_coding_transcript_exon_variant,,ENST00000490213,;NAV1,non_coding_transcript_exon_variant,,ENST00000469130,;NAV1,upstream_gene_variant,,ENST00000477118,;	2830	107	99	SUCCESS
SYT2	127833	.	GRCh37	1	202568405	202568407	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	rs1385596079	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	71	37	107	0	ENST00000367267.1:c.992_994del	p.Lys331del	p.K331del	ENST00000367267	NM_001136504.1	331	aAGAcc/acc	0	.	.	.	.	.	-	KT/T	protein_coding	YES	CCDS1427.1	992-994	INDELOCATOR|VARSCANI	.	TCAGGGTCTTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF208,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	.	ENSP00000356236	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000367267	Transcript	.	.	ENSG00000143858	11510	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYT2_HUMAN	SYT2	HGNC	.	.	UPI000006E8FC	deletion	SYT2,inframe_deletion,p.Lys331del,ENST00000367267,;SYT2,inframe_deletion,p.Lys331del,ENST00000367268,;RP11-569A11.1,upstream_gene_variant,,ENST00000428573,;	1185-1187	107	108	SUCCESS
MYOG	4656	.	GRCh37	1	203055146	203055146	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs370845237	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	75	0	ENST00000241651.4:c.-57C>T		p.*19*	ENST00000241651	NM_002479.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1433.1	.	MUTECT|MUSE|VARSCANS	.	CTCACGCCAAC	NONE	.	.	.	.	.	ENSP00000241651	.	1/3	.	.	.	.	.	.	.	.	rs370845237	1/3	PASS	ENST00000241651	Transcript	.	.	ENSG00000122180	7612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYOG_HUMAN	MYOG	HGNC	.	.	UPI000012FBA4	SNV	MYOG,5_prime_UTR_variant,,ENST00000241651,;ADORA1,upstream_gene_variant,,ENST00000309502,;	19	75	73	SUCCESS
SLC41A1	254428	.	GRCh37	1	205760779	205760779	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	258	11	269	0	ENST00000367137.3:c.1424A>G	p.Asp475Gly	p.D475G	ENST00000367137	NM_173854.4	475	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS30988.1	1424	MUTECT|MUSE	.	AGTTGTCCGGG	NONE	.	.	hmmpanther:PTHR16228:SF23,hmmpanther:PTHR16228,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748	.	.	ENSP00000356105	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000367137	Transcript	.	.	ENSG00000133065	19429	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	S41A1_HUMAN	SLC41A1	HGNC	B2RMP2_HUMAN	.	UPI000013E1E6	SNV	SLC41A1,missense_variant,p.Asp475Gly,ENST00000367137,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000468057,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000484228,;	2439	270	269	SUCCESS
CR2	1380	.	GRCh37	1	207648316	207648316	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	93	0	ENST00000367058.3:c.2294A>T	p.Asp765Val	p.D765V	ENST00000367058	NM_001877.4	765	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31007.1	2471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGATTCTA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Asp738Val,ENST00000458541,;CR2,missense_variant,p.Asp824Val,ENST00000367057,;CR2,missense_variant,p.Asp765Val,ENST00000367058,;CR2,missense_variant,p.Asp765Val,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000475194,;	2660	93	100	SUCCESS
CDA	978	.	GRCh37	1	20931423	20931423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	36	134	0	ENST00000375071.3:c.157T>C	p.Cys53Arg	p.C53R	ENST00000375071	NM_001785.2	53	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS210.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTGCAAC	NONE	.	.	hmmpanther:PTHR11644,TIGRFAM_domain:TIGR01354,Pfam_domain:PF00383,Gene3D:3.40.140.10,Superfamily_domains:SSF53927	.	.	ENSP00000364212	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000375071	Transcript	.	.	ENSG00000158825	1712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CDD_HUMAN	CDA	HGNC	Q71UE9_HUMAN	.	UPI0000127406	SNV	CDA,missense_variant,p.Cys53Arg,ENST00000375071,;CDA,splice_region_variant,,ENST00000461985,;	339	134	115	SUCCESS
KCNH1	3756	.	GRCh37	1	210857113	210857113	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs764030459	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	46	0	ENST00000271751.4:c.2480del	p.Gly827AlafsTer48	p.G827Afs*48	ENST00000271751		827	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS1496.1	2480	VARSCANI*|PINDEL	.	CCCCCGCCCCCC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377	.	.	ENSP00000271751	.	11/11	.	.	.	.	.	.	.	.	rs764030459,COSM1338578	11/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	deletion	KCNH1,frameshift_variant,p.Gly800AlafsTer48,ENST00000367007,;KCNH1,frameshift_variant,p.Gly827AlafsTer48,ENST00000271751,;	2508	46	54	SUCCESS
EIF4G3	8672	.	GRCh37	1	21180098	21180098	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs115653489	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	61	148	0	ENST00000264211.8:c.3338C>T	p.Thr1113Met	p.T1113M	ENST00000264211	NM_003760.4	1113	aCg/aTg	0	A:0.0082	A:0.0136	.	A:0	.	A	T/M	protein_coding	YES	CCDS55580.1	3356	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGTGGAC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23	A:0	A:0	ENSP00000473510	A:0	25/35	.	.	.	.	.	.	.	.	rs115653489	25/35	common_in_exac	ENST00000602326	Transcript	.	A:0.0036	ENSG00000075151	3298	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.181)	A:0	tolerated(0.11)	.	IF4G3_HUMAN	EIF4G3	HGNC	Q59GJ0_HUMAN,F5H564_HUMAN	.	UPI0001639589	SNV	EIF4G3,missense_variant,p.Thr1113Met,ENST00000400422,;EIF4G3,missense_variant,p.Thr603Met,ENST00000537738,;EIF4G3,missense_variant,p.Thr717Met,ENST00000536266,;EIF4G3,missense_variant,p.Thr1119Met,ENST00000374937,;EIF4G3,missense_variant,p.Thr833Met,ENST00000374935,;EIF4G3,missense_variant,p.Thr1119Met,ENST00000602326,;EIF4G3,missense_variant,p.Thr1113Met,ENST00000264211,;	3940	148	145	SUCCESS
ANGEL2	90806	.	GRCh37	1	213178563	213178563	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	82	0	ENST00000366962.3:c.946A>C	p.Arg316=	p.R316=	ENST00000366962	NM_144567.3	316	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS1512.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCTTGGAT	NONE	.	.	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12121:SF27,hmmpanther:PTHR12121	.	.	ENSP00000355929	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000366962	Transcript	.	.	ENSG00000174606	30534	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGE2_HUMAN	ANGEL2	HGNC	.	.	UPI00001D3EF4	SNV	ANGEL2,synonymous_variant,p.%3D,ENST00000535388,;ANGEL2,synonymous_variant,p.%3D,ENST00000360506,;ANGEL2,synonymous_variant,p.%3D,ENST00000544555,;ANGEL2,synonymous_variant,p.%3D,ENST00000366962,;ANGEL2,synonymous_variant,p.%3D,ENST00000540642,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000476904,;ANGEL2,upstream_gene_variant,,ENST00000498650,;ANGEL2,upstream_gene_variant,,ENST00000473303,;ANGEL2,downstream_gene_variant,,ENST00000460337,;ANGEL2,downstream_gene_variant,,ENST00000481918,;	1101	82	81	SUCCESS
GPATCH2	55105	.	GRCh37	1	217688182	217688182	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1395136941	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	234	160	370	0	ENST00000366935.3:c.1148C>T	p.Pro383Leu	p.P383L	ENST00000366935	NM_018040.2	383	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1518.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCGGGGAA	NONE	.	.	hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4	.	.	ENSP00000355902	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000366935	Transcript	.	.	ENSG00000092978	25499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	tolerated(0.3)	.	GPTC2_HUMAN	GPATCH2	HGNC	.	.	UPI000004A012	SNV	GPATCH2,missense_variant,p.Pro383Leu,ENST00000366935,;GPATCH2,non_coding_transcript_exon_variant,,ENST00000485274,;GPATCH2,non_coding_transcript_exon_variant,,ENST00000470014,;	1259	370	395	SUCCESS
GPATCH2	55105	.	GRCh37	1	217793392	217793392	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	51	0	ENST00000366935.3:c.506T>A	p.Val169Glu	p.V169E	ENST00000366935	NM_018040.2	169	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS1518.1	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTACTGCC	NONE	.	.	hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4	.	.	ENSP00000355902	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000366935	Transcript	.	.	ENSG00000092978	25499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	deleterious(0.02)	.	GPTC2_HUMAN	GPATCH2	HGNC	.	.	UPI000004A012	SNV	GPATCH2,missense_variant,p.Val169Glu,ENST00000366935,;GPATCH2,missense_variant,p.Val169Glu,ENST00000366934,;	617	51	52	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220387265	220387265	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	71	0	ENST00000358951.2:c.237T>C	p.Val79=	p.V79=	ENST00000358951	NM_012414.3	79	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS31028.1	237	MUTECT|MUSE|VARSCANS	.	GATAAAACACA	NONE	.	.	Pfam_domain:PF14655,hmmpanther:PTHR12472	.	.	ENSP00000351832	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,synonymous_variant,p.%3D,ENST00000358951,;RAB3GAP2,upstream_gene_variant,,ENST00000484658,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,intron_variant,,ENST00000474178,;RAB3GAP2,intron_variant,,ENST00000237724,;	354	71	77	SUCCESS
BROX	148362	.	GRCh37	1	222902172	222902172	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	53	0	ENST00000340934.5:c.756+2T>C		p.X252_splice	ENST00000340934	NM_144695.2	252		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1534.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGTAAGTA	NONE	.	.	.	.	.	ENSP00000343742	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340934	Transcript	.	.	ENSG00000162819	26512	.	.	HIGH	9/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BROX_HUMAN	BROX	HGNC	Q5VW33_HUMAN	.	UPI000013E1D1	SNV	BROX,splice_donor_variant,,ENST00000537020,;BROX,splice_donor_variant,,ENST00000340934,;BROX,splice_donor_variant,,ENST00000539697,;BROX,downstream_gene_variant,,ENST00000426638,;BROX,downstream_gene_variant,,ENST00000473962,;BROX,downstream_gene_variant,,ENST00000489191,;	.	53	67	SUCCESS
DNAH14	127602	.	GRCh37	1	225519251	225519251	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	92	268	0	ENST00000445597.2:c.7486-5717T>C		p.*2496*	ENST00000445597		984		0	.	.	.	.	.	C	V/A	protein_coding	.	.	9557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGTCTTAC	NONE	.	.	hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000414402	.	63/84	.	.	.	.	.	.	.	.	.	63/84	PASS	ENST00000430092	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI000192C36D	SNV	DNAH14,missense_variant,p.Val3186Ala,ENST00000430092,;DNAH14,missense_variant,p.Val3186Ala,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,missense_variant,p.Val984Ala,ENST00000327794,;	9772	268	237	SUCCESS
PARP1	142	.	GRCh37	1	226556018	226556018	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	83	0	ENST00000366794.5:c.2159T>A	p.Val720Glu	p.V720E	ENST00000366794	NM_001618.3	720	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS1554.1	2159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACACCGCC	NONE	.	.	PROSITE_profiles:PS51060,hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,Gene3D:1.20.142.10,Pfam_domain:PF02877,PIRSF_domain:PIRSF000489,Superfamily_domains:SSF47587	.	.	ENSP00000355759	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000366794	Transcript	.	.	ENSG00000143799	270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	deleterious(0)	.	PARP1_HUMAN	PARP1	HGNC	Q96P95_HUMAN	.	UPI000013D92D	SNV	PARP1,missense_variant,p.Val720Glu,ENST00000366794,;PARP1,non_coding_transcript_exon_variant,,ENST00000498787,;PARP1,non_coding_transcript_exon_variant,,ENST00000490921,;PARP1,upstream_gene_variant,,ENST00000463968,;	2303	83	68	SUCCESS
OBSCN	84033	.	GRCh37	1	228399645	228399645	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1237802265	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	54	157	0	ENST00000422127.1:c.161C>T	p.Ala54Val	p.A54V	ENST00000422127	NM_001098623.2	54	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS59204.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGCGCGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	2/116	.	.	.	.	.	.	.	.	.	2/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala54Val,ENST00000284548,;OBSCN,missense_variant,p.Ala54Val,ENST00000570156,;OBSCN,missense_variant,p.Ala54Val,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;C1orf145,intron_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,intron_variant,,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;	235	157	122	SUCCESS
TRIM17	51127	.	GRCh37	1	228596563	228596563	+	intron_variant	Intron	SNP	C	C	T	rs564363536	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	35	0	ENST00000295033.3:c.884-111G>A		p.*295*	ENST00000295033	NM_001024940.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS1571.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCCGCAGA	NONE	by1000G	.	.	T:0	.	ENSP00000355658	T:0	.	.	.	.	.	.	.	.	.	rs564363536	.	PASS	ENST00000366697	Transcript	.	T:0.0002	ENSG00000162931	13430	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	TRI17_HUMAN	TRIM17	HGNC	J3KQG0_HUMAN,J3KNZ3_HUMAN,E5RJW6_HUMAN,E5RI62_HUMAN	.	UPI000000163B	SNV	TRIM17,3_prime_UTR_variant,,ENST00000456946,;TRIM17,intron_variant,,ENST00000366697,;TRIM17,intron_variant,,ENST00000295033,;TRIM17,intron_variant,,ENST00000366698,;TRIM11,upstream_gene_variant,,ENST00000602308,;TRIM11,upstream_gene_variant,,ENST00000602582,;TRIM11,upstream_gene_variant,,ENST00000284551,;TRIM11,upstream_gene_variant,,ENST00000493030,;TRIM17,downstream_gene_variant,,ENST00000355586,;TRIM17,downstream_gene_variant,,ENST00000479800,;TRIM11,upstream_gene_variant,,ENST00000366699,;RP11-245P10.4,intron_variant,,ENST00000436779,;	.	35	27	SUCCESS
EPHA8	2046	.	GRCh37	1	22928128	22928128	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139543017	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	61	199	0	ENST00000166244.3:c.2912G>A	p.Arg971His	p.R971H	ENST00000166244	NM_020526.3	971	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS225.1	2912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCGCGCCC	NONE	byCluster	.	Superfamily_domains:SSF47769,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Gene3D:1.10.150.50,Pfam_domain:PF00536,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS50105	.	A:0.0001	ENSP00000166244	.	17/17	.	.	.	.	.	.	.	.	rs139543017	17/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	tolerated(0.13)	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,missense_variant,p.Arg971His,ENST00000166244,;	2984	199	152	SUCCESS
C1QA	712	.	GRCh37	1	22965607	22965607	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1043270464	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	77	220	0	ENST00000374642.3:c.445G>A	p.Gly149Ser	p.G149S	ENST00000374642	NM_015991.2	149	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS226.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGGCCGA	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF79,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000363773	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374642	Transcript	.	.	ENSG00000173372	1241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.03)	.	C1QA_HUMAN	C1QA	HGNC	.	.	UPI00000012E3	SNV	C1QA,missense_variant,p.Gly149Ser,ENST00000402322,;C1QA,missense_variant,p.Gly149Ser,ENST00000374642,;C1QA,missense_variant,p.Gly149Ser,ENST00000438241,;C1QC,upstream_gene_variant,,ENST00000374640,;C1QC,upstream_gene_variant,,ENST00000374637,;C1QC,upstream_gene_variant,,ENST00000374639,;	649	220	189	SUCCESS
CAPN9	10753	.	GRCh37	1	230916293	230916293	+	synonymous_variant	Silent	SNP	C	C	T	rs200514450	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	114	0	ENST00000271971.2:c.1320C>T	p.His440=	p.H440=	ENST00000271971	NM_006615.2	440	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS1586.1	1320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACGCTTC	NONE	byCluster	.	hmmpanther:PTHR10183:SF136,hmmpanther:PTHR10183,Pfam_domain:PF01067,Gene3D:2.60.120.380,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000271971	.	11/20	.	.	.	.	.	.	.	.	rs200514450	11/20	PASS	ENST00000271971	Transcript	.	.	ENSG00000135773	1486	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN9_HUMAN	CAPN9	HGNC	.	.	UPI000006E882	SNV	CAPN9,synonymous_variant,p.%3D,ENST00000271971,;CAPN9,synonymous_variant,p.%3D,ENST00000366666,;CAPN9,synonymous_variant,p.%3D,ENST00000354537,;RP11-99J16__A.2,intron_variant,,ENST00000428480,;RP11-99J16__A.2,intron_variant,,ENST00000412344,;RP11-99J16__A.2,intron_variant,,ENST00000452640,;	1433	114	117	SUCCESS
SPRTN	83932	.	GRCh37	1	231488843	231488843	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	126	302	0	ENST00000295050.7:c.1206T>A	p.Asp402Glu	p.D402E	ENST00000295050	NM_032018.5	402	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS1594.1	1206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATACATT	NONE	.	.	hmmpanther:PTHR21220	.	.	ENSP00000295050	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000295050	Transcript	.	.	ENSG00000010072	25356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.58)	.	SPRTN_HUMAN	SPRTN	HGNC	L8E708_HUMAN	.	UPI000006D601	SNV	SPRTN,missense_variant,p.Asp402Glu,ENST00000295050,;SPRTN,3_prime_UTR_variant,,ENST00000391858,;SPRTN,downstream_gene_variant,,ENST00000008440,;SPRTN,downstream_gene_variant,,ENST00000366644,;SPRTN,downstream_gene_variant,,ENST00000469904,;	1542	303	278	SUCCESS
EPHB2	2048	.	GRCh37	1	23191427	23191427	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	76	162	0	ENST00000400191.3:c.1025T>A	p.Leu342Gln	p.L342Q	ENST00000400191	NM_004442.6	342	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS230.1	1025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCTGGAGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000363763	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,missense_variant,p.Leu342Gln,ENST00000544305,;EPHB2,missense_variant,p.Leu336Gln,ENST00000374627,;EPHB2,missense_variant,p.Leu342Gln,ENST00000400191,;EPHB2,missense_variant,p.Leu342Gln,ENST00000374630,;EPHB2,missense_variant,p.Leu342Gln,ENST00000374632,;MIR4253,upstream_gene_variant,,ENST00000581187,;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,;EPHB2,upstream_gene_variant,,ENST00000490436,;	1038	162	195	SUCCESS
MORN1	79906	.	GRCh37	1	2319684	2319684	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	42	0	ENST00000378531.3:c.241T>C	p.Trp81Arg	p.W81R	ENST00000378531	NM_024848.1	81	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS40.1	241	RADIA|MUTECT|MUSE|VARSCANS	.	TGACCAGGCCC	NONE	.	.	Superfamily_domains:0038399,SMART_domains:SM00698,Pfam_domain:PF02493,Gene3D:1h3iA01,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF123	.	.	ENSP00000367792	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000378531	Transcript	.	.	ENSG00000116151	25852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.39)	.	MORN1_HUMAN	MORN1	HGNC	.	.	UPI000007293C	SNV	MORN1,missense_variant,p.Trp56Arg,ENST00000494279,;MORN1,missense_variant,p.Trp81Arg,ENST00000378531,;MORN1,missense_variant,p.Trp81Arg,ENST00000378529,;MORN1,synonymous_variant,p.%3D,ENST00000449373,;RER1,upstream_gene_variant,,ENST00000378513,;RER1,upstream_gene_variant,,ENST00000605895,;RER1,upstream_gene_variant,,ENST00000378518,;RER1,upstream_gene_variant,,ENST00000306256,;RER1,upstream_gene_variant,,ENST00000378512,;RER1,upstream_gene_variant,,ENST00000443438,;MORN1,non_coding_transcript_exon_variant,,ENST00000606372,;MORN1,missense_variant,p.Trp57Arg,ENST00000378525,;MORN1,non_coding_transcript_exon_variant,,ENST00000475812,;MORN1,non_coding_transcript_exon_variant,,ENST00000607031,;RER1,upstream_gene_variant,,ENST00000493207,;MORN1,upstream_gene_variant,,ENST00000419785,;MORN1,upstream_gene_variant,,ENST00000469374,;AL513477.1,non_coding_transcript_exon_variant,,ENST00000317490,;	415	42	39	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232600968	232600968	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	126	0	ENST00000262861.4:c.2438C>T	p.Ala813Val	p.A813V	ENST00000262861	NM_020808.3	813	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41474.1	2438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCGCCAGA	NONE	.	.	Superfamily_domains:0043732,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Ala813Val,ENST00000366630,;SIPA1L2,missense_variant,p.Ala813Val,ENST00000262861,;SIPA1L2,upstream_gene_variant,,ENST00000308942,;	2797	126	142	SUCCESS
PCNXL2	0	.	GRCh37	1	233388186	233388186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	6	183	0	ENST00000258229.9:c.2042C>A	p.Ser681Tyr	p.S681Y	ENST00000258229	NM_014801.3	681	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS44335.1	2042	MUTECT|MUSE	.	AGACAGAACTA	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Ser681Tyr,ENST00000258229,;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,missense_variant,p.Ser112Tyr,ENST00000475463,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000324142,;	2277	183	148	SUCCESS
LYST	1130	.	GRCh37	1	235860518	235860519	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	469	143	457	0	ENST00000389793.2:c.10428dup	p.Ser3477GlnfsTer42	p.S3477Qfs*42	ENST00000389793	NM_000081.3	3476	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS31062.1	10428-10429	VARSCANI*|PINDEL	.	AGCACTGGGGG	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	46/53	.	.	.	.	.	.	.	.	.	46/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	insertion	LYST,frameshift_variant,p.Ser3477GlnfsTer42,ENST00000389793,;LYST,frameshift_variant,p.Ser3477GlnfsTer42,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	10603-10604	457	612	SUCCESS
ERO1LB	0	.	GRCh37	1	236445027	236445027	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	100	0	ENST00000354619.5:c.57G>C	p.Gln19His	p.Q19H	ENST00000354619	NM_019891.3	19	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS31064.1	57	MUTECT|MUSE	.	AGCAGCTGCAC	NONE	.	.	PIRSF_domain:PIRSF017205,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF2,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000346635	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000354619	Transcript	.	.	ENSG00000086619	14355	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.55)	.	ERO1B_HUMAN	ERO1LB	HGNC	Q5TAE8_HUMAN,Q5T1H5_HUMAN	.	UPI00004700B5	SNV	ERO1LB,missense_variant,p.Gln19His,ENST00000327333,;ERO1LB,missense_variant,p.Gln19His,ENST00000354619,;ERO1LB,upstream_gene_variant,,ENST00000366589,;RP11-478H16.1,downstream_gene_variant,,ENST00000423792,;	259	100	95	SUCCESS
HEATR1	55127	.	GRCh37	1	236727799	236727799	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	8	98	0	ENST00000366582.3:c.4598del	p.Lys1533ArgfsTer2	p.K1533Rfs*2	ENST00000366582	NM_018072.5	1533	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS31066.1	4598	INDELOCATOR|VARSCANI	.	ATTACCTTTTTC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR13457:SF1,hmmpanther:PTHR13457	.	.	ENSP00000355541	.	32/45	.	.	.	.	.	.	.	.	.	32/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	deletion	HEATR1,frameshift_variant,p.Lys1452ArgfsTer2,ENST00000366581,;HEATR1,frameshift_variant,p.Lys1533ArgfsTer2,ENST00000366582,;	4713	98	94	SUCCESS
MTR	4548	.	GRCh37	1	236959039	236959039	+	splice_donor_variant	Splice_Site	SNP	T	T	C	rs776165231	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	64	0	ENST00000366577.5:c.34+2T>C		p.X12_splice	ENST00000366577	NM_000254.2	12		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1614.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGTAACGC	NONE	.	.	.	.	.	ENSP00000355536	.	.	.	.	.	.	.	.	.	.	rs776165231	.	PASS	ENST00000366577	Transcript	.	.	ENSG00000116984	7468	.	.	HIGH	1/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	METH_HUMAN	MTR	HGNC	.	.	UPI0000036BC4	SNV	MTR,splice_donor_variant,,ENST00000418145,;MTR,splice_donor_variant,,ENST00000366577,;MTR,splice_donor_variant,,ENST00000535889,;MTR,splice_donor_variant,,ENST00000463959,;	.	64	61	SUCCESS
ASAP3	55616	.	GRCh37	1	23763464	23763464	+	synonymous_variant	Silent	SNP	G	G	A	rs768746081	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	49	107	0	ENST00000336689.3:c.1416C>T	p.Gly472=	p.G472=	ENST00000336689	NM_017707.3	472	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS235.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACGCCCAG	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF211,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405	.	.	ENSP00000338769	.	15/25	.	.	.	.	.	.	.	.	rs768746081	15/25	PASS	ENST00000336689	Transcript	.	.	ENSG00000088280	14987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASAP3_HUMAN	ASAP3	HGNC	H0YER8_HUMAN	.	UPI0000071371	SNV	ASAP3,synonymous_variant,p.%3D,ENST00000336689,;ASAP3,synonymous_variant,p.%3D,ENST00000437606,;ASAP3,upstream_gene_variant,,ENST00000465372,;ASAP3,upstream_gene_variant,,ENST00000495646,;ASAP3,3_prime_UTR_variant,,ENST00000492982,;ASAP3,3_prime_UTR_variant,,ENST00000475814,;ASAP3,non_coding_transcript_exon_variant,,ENST00000530874,;ASAP3,upstream_gene_variant,,ENST00000484418,;ASAP3,downstream_gene_variant,,ENST00000478858,;	1461	107	119	SUCCESS
RYR2	6262	.	GRCh37	1	237951398	237951398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	442	310	770	1	ENST00000366574.2:c.13439T>A	p.Phe4480Tyr	p.F4480Y	ENST00000366574	NM_001035.2	4480	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS55691.1	13439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATTCTGGA	NONE	.	.	Pfam_domain:PF06459,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	92/105	.	.	.	.	.	.	.	.	.	92/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Phe4464Tyr,ENST00000542537,;RYR2,missense_variant,p.Phe4480Tyr,ENST00000366574,;RYR2,missense_variant,p.Phe4486Tyr,ENST00000360064,;RYR2,upstream_gene_variant,,ENST00000608590,;RYR2,downstream_gene_variant,,ENST00000609119,;	13756	771	753	SUCCESS
LYPLA2	11313	.	GRCh37	1	24119147	24119148	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	INS	-	-	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	71	0	ENST00000374514.3:c.-21dup		p.X7_splice	ENST00000374514	NM_007260.2	7		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS241.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCAGGCCCCC	NONE	.	.	.	.	.	ENSP00000363638	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000374514	Transcript	.	.	ENSG00000011009	6738	5	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LYPA2_HUMAN	LYPLA2	HGNC	Q5QPQ0_HUMAN,Q5QPN5_HUMAN	.	UPI0000073F0B	insertion	LYPLA2,splice_region_variant,,ENST00000400061,;LYPLA2,splice_region_variant,,ENST00000420982,;LYPLA2,splice_region_variant,,ENST00000374503,;LYPLA2,splice_region_variant,,ENST00000374514,;LYPLA2,splice_region_variant,,ENST00000374502,;LYPLA2,splice_region_variant,,ENST00000374505,;LYPLA2,5_prime_UTR_variant,,ENST00000421070,;PITHD1,downstream_gene_variant,,ENST00000246151,;GALE,downstream_gene_variant,,ENST00000418277,;LYPLA2,upstream_gene_variant,,ENST00000374501,;GALE,downstream_gene_variant,,ENST00000445705,;GALE,downstream_gene_variant,,ENST00000425913,;GALE,downstream_gene_variant,,ENST00000429356,;GALE,downstream_gene_variant,,ENST00000374497,;PITHD1,downstream_gene_variant,,ENST00000374524,;GALE,downstream_gene_variant,,ENST00000456977,;LYPLA2,splice_region_variant,,ENST00000495365,;LYPLA2,splice_region_variant,,ENST00000492577,;GALE,downstream_gene_variant,,ENST00000459934,;GALE,downstream_gene_variant,,ENST00000481736,;LYPLA2,upstream_gene_variant,,ENST00000472213,;GALE,downstream_gene_variant,,ENST00000469556,;GALE,downstream_gene_variant,,ENST00000470949,;	282-283	71	86	SUCCESS
FH	2271	.	GRCh37	1	241680550	241680550	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	95	0	ENST00000366560.3:c.199T>C	p.Tyr67His	p.Y67H	ENST00000366560	NM_000143.3	67	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS1617.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATACTTAT	NONE	.	.	Superfamily_domains:SSF48557,TIGRFAM_domain:TIGR00979,Pfam_domain:PF00206,Gene3D:1.10.275.10,hmmpanther:PTHR11444:SF1,hmmpanther:PTHR11444,HAMAP:MF_00743	.	.	ENSP00000355518	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000366560	Transcript	.	.	ENSG00000091483	3700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.66)	.	deleterious(0.02)	.	FUMH_HUMAN	FH	HGNC	B1ANK7_HUMAN	.	UPI000012AD6A	SNV	FH,missense_variant,p.Tyr67His,ENST00000366560,;FH,non_coding_transcript_exon_variant,,ENST00000493477,;FH,upstream_gene_variant,,ENST00000497042,;	238	95	107	SUCCESS
WDR64	128025	.	GRCh37	1	241901671	241901671	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775485533	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	112	0	ENST00000366552.2:c.1171C>T	p.Arg391Trp	p.R391W	ENST00000366552	NM_144625.4	391	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	.	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCGGGTG	NONE	byFrequency	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978	.	.	ENSP00000355510	.	10/27	.	.	.	.	.	.	.	.	rs775485533,COSM3486151,COSM3486152	10/27	PASS	ENST00000366552	Transcript	.	.	ENSG00000162843	26570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,missense_variant,p.Arg391Trp,ENST00000437684,;WDR64,missense_variant,p.Arg391Trp,ENST00000366552,;WDR64,missense_variant,p.Arg162Trp,ENST00000414635,;WDR64,missense_variant,p.Arg391Trp,ENST00000468967,;WDR64,upstream_gene_variant,,ENST00000472717,;	1378	113	92	SUCCESS
PLCH2	9651	.	GRCh37	1	2435164	2435164	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	11	0	ENST00000378486.3:c.2960-197C>A		p.*987*	ENST00000378486	NM_014638.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCCAGCA	NONE	.	.	.	.	.	ENSP00000397289	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000449969	Transcript	.	.	ENSG00000149527	29037	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCH2_HUMAN	PLCH2	HGNC	.	.	UPI00006C0134	SNV	PLCH2,3_prime_UTR_variant,,ENST00000449969,;PLCH2,intron_variant,,ENST00000419816,;PLCH2,intron_variant,,ENST00000278878,;PLCH2,intron_variant,,ENST00000378486,;PLCH2,intron_variant,,ENST00000378488,;PLCH2,downstream_gene_variant,,ENST00000288766,;PANK4,downstream_gene_variant,,ENST00000435556,;PANK4,downstream_gene_variant,,ENST00000378466,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,non_coding_transcript_exon_variant,,ENST00000473964,;PLCH2,intron_variant,,ENST00000462379,;	3649	11	27	SUCCESS
AHCTF1	25909	.	GRCh37	1	247058005	247058005	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141831225	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	175	475	1	ENST00000326225.3:c.1787C>T	p.Thr596Met	p.T596M	ENST00000326225	NM_015446.4	596	aCg/aTg	0	A:0.0002	A:0	.	A:0.0014	.	A	T/M	protein_coding	YES	CCDS1629.2	1787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACGTCCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21583	A:0	A:0.0003	ENSP00000355465	A:0.001	14/36	.	.	.	.	.	.	.	.	rs141831225	14/36	PASS	ENST00000326225	Transcript	.	A:0.0004	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	A:0	deleterious(0)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Thr587Met,ENST00000391829,;AHCTF1,missense_variant,p.Thr622Met,ENST00000366508,;AHCTF1,missense_variant,p.Thr596Met,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;	1884	476	429	SUCCESS
ZNF695	57116	.	GRCh37	1	247150429	247150429	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	38	63	0	ENST00000339986.7:c.1388C>T	p.Pro463Leu	p.P463L	ENST00000339986	NM_020394.4	463	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS44344.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGGTTTC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,PROSITE_profiles:PS50157	.	.	ENSP00000341236	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339986	Transcript	.	.	ENSG00000197472	30954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.02)	.	ZN695_HUMAN	ZNF695	HGNC	.	.	UPI0000F734A8	SNV	ZNF695,missense_variant,p.Pro463Leu,ENST00000339986,;ZNF695,intron_variant,,ENST00000487338,;ZNF695,intron_variant,,ENST00000498046,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000479214,;ZNF670,intron_variant,,ENST00000474541,;ZNF695,intron_variant,,ENST00000491337,;ZNF670,intron_variant,,ENST00000465049,;	1536	63	76	SUCCESS
ZNF496	84838	.	GRCh37	1	247464566	247464566	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs551292960	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	34	0	ENST00000294753.4:c.1019C>T	p.Pro340Leu	p.P340L	ENST00000294753	NM_032752.1	340	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS1631.1	1019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCGGGTTG	NONE	by1000G	.	hmmpanther:PTHR10032:SF212,hmmpanther:PTHR10032	A:0	.	ENSP00000294753	A:0	9/9	.	.	.	.	.	.	.	.	rs551292960	9/9	PASS	ENST00000294753	Transcript	.	A:0.0002	ENSG00000162714	23713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	A:0.001	tolerated(0.18)	.	ZN496_HUMAN	ZNF496	HGNC	.	.	UPI000007025B	SNV	ZNF496,missense_variant,p.Pro376Leu,ENST00000366498,;ZNF496,missense_variant,p.Pro265Leu,ENST00000461277,;ZNF496,missense_variant,p.Pro340Leu,ENST00000294753,;ZNF496,non_coding_transcript_exon_variant,,ENST00000462139,;	1484	34	34	SUCCESS
OR2C3	81472	.	GRCh37	1	247695764	247695764	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	137	1	ENST00000366487.3:c.50G>A	p.Gly17Asp	p.G17D	ENST00000366487	NM_198074.4	17	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1634.2	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCCCAGG	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF117,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000355443	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366487	Transcript	.	.	ENSG00000196242	15005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	OR2C3_HUMAN	OR2C3	HGNC	.	.	UPI0000061EBD	SNV	OR2C3,missense_variant,p.Gly17Asp,ENST00000366487,;GCSAML,intron_variant,,ENST00000527084,;GCSAML,intron_variant,,ENST00000527541,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000366489,;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000366490,;GCSAML,intron_variant,,ENST00000366491,;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000531662,;	412	138	124	SUCCESS
OR2T33	391195	.	GRCh37	1	248436735	248436735	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751813840	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	576	107	687	0	ENST00000318021.2:c.382C>T	p.Leu128Phe	p.L128F	ENST00000318021	NM_001004695.1	128	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS31109.1	382	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGAGTGGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF83,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000324687	.	1/1	.	.	.	.	.	.	.	.	rs751813840	1/1	PASS	ENST00000318021	Transcript	.	.	ENSG00000177212	31255	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O2T33_HUMAN	OR2T33	HGNC	.	.	UPI000004B237	SNV	OR2T33,missense_variant,p.Leu128Phe,ENST00000318021,;	404	688	683	SUCCESS
OR2T1	26696	.	GRCh37	1	248569984	248569984	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	90	0	ENST00000366474.1:c.689A>G	p.Glu230Gly	p.E230G	ENST00000366474	NM_030904.1	230	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31115.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGAGGCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF125,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000355430	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366474	Transcript	.	.	ENSG00000175143	8277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR2T1_HUMAN	OR2T1	HGNC	.	.	UPI00003B2872	SNV	OR2T1,missense_variant,p.Glu230Gly,ENST00000366474,;	689	90	100	SUCCESS
OR2T2	401992	.	GRCh37	1	248616797	248616797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	8	233	0	ENST00000342927.3:c.699G>T	p.Glu233Asp	p.E233D	ENST00000342927	NM_001004136.1	233	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS31116.1	699	MUTECT|MUSE	.	GCTGAGGGCCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	deleterious(0.03)	.	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,missense_variant,p.Glu233Asp,ENST00000342927,;	721	233	198	SUCCESS
ZNF672	79894	.	GRCh37	1	249142190	249142190	+	synonymous_variant	Silent	SNP	C	C	T	rs373331980	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	75	0	ENST00000306562.3:c.717C>T	p.Ser239=	p.S239=	ENST00000306562	NM_024836.1	239	agC/agT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS1638.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCGCCAC	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	T:0	ENSP00000421915	.	4/4	.	.	.	.	.	.	.	.	rs373331980	4/4	PASS	ENST00000306562	Transcript	.	.	ENSG00000171161	26179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN672_HUMAN	ZNF672	HGNC	D6RH11_HUMAN,D6RD56_HUMAN	.	UPI0000070D6C	SNV	ZNF672,synonymous_variant,p.%3D,ENST00000306562,;ZNF692,downstream_gene_variant,,ENST00000427146,;ZNF692,downstream_gene_variant,,ENST00000451251,;ZNF672,downstream_gene_variant,,ENST00000423362,;ZNF672,downstream_gene_variant,,ENST00000428515,;ZNF672,downstream_gene_variant,,ENST00000505503,;ZNF692,downstream_gene_variant,,ENST00000306601,;ZNF692,downstream_gene_variant,,ENST00000366471,;ZNF692,downstream_gene_variant,,ENST00000366469,;ZNF692,downstream_gene_variant,,ENST00000476503,;ZNF672,downstream_gene_variant,,ENST00000510904,;ZNF672,downstream_gene_variant,,ENST00000502697,;ZNF672,downstream_gene_variant,,ENST00000515369,;ZNF692,downstream_gene_variant,,ENST00000477070,;ZNF692,downstream_gene_variant,,ENST00000482023,;ZNF692,downstream_gene_variant,,ENST00000463519,;ZNF692,downstream_gene_variant,,ENST00000474351,;ZNF692,downstream_gene_variant,,ENST00000462037,;ZNF692,downstream_gene_variant,,ENST00000412341,;ZNF692,downstream_gene_variant,,ENST00000470787,;ZNF692,downstream_gene_variant,,ENST00000533927,;	1463	75	54	SUCCESS
SRRM1	10250	.	GRCh37	1	24995828	24995828	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs866271152	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	77	195	0	ENST00000323848.9:c.1954C>T	p.Arg652Cys	p.R652C	ENST00000323848	NM_005839.3	652	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS255.1	1954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGACGTTCA	NONE	.	.	hmmpanther:PTHR23148	.	.	ENSP00000326261	.	14/17	.	.	.	.	.	.	.	.	COSM907445	14/17	PASS	ENST00000323848	Transcript	.	.	ENSG00000133226	16638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	1	SRRM1_HUMAN	SRRM1	HGNC	M0QXG5_HUMAN	.	UPI000013EBEB	SNV	SRRM1,missense_variant,p.Arg652Cys,ENST00000323848,;SRRM1,missense_variant,p.Arg625Cys,ENST00000596378,;SRRM1,missense_variant,p.Arg664Cys,ENST00000447431,;SRRM1,missense_variant,p.Arg661Cys,ENST00000374389,;SRRM1,downstream_gene_variant,,ENST00000537199,;snoU13,upstream_gene_variant,,ENST00000459464,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,downstream_gene_variant,,ENST00000461768,;SRRM1,upstream_gene_variant,,ENST00000474843,;SRRM1,downstream_gene_variant,,ENST00000489130,;	2269	195	203	SUCCESS
CEP85	64793	.	GRCh37	1	26586251	26586251	+	synonymous_variant	Silent	SNP	G	G	A	rs534974823	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	67	205	0	ENST00000252992.4:c.1299G>A	p.Ala433=	p.A433=	ENST00000252992	NM_022778.3	433	gcG/gcA	0	.	A:0	.	A:0.0014	.	A	A	protein_coding	YES	CCDS277.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTTGCA	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF3	A:0	.	ENSP00000252992	A:0	7/14	.	.	.	.	.	.	.	.	rs534974823	7/14	PASS	ENST00000252992	Transcript	.	A:0.0002	ENSG00000130695	25309	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CEP85_HUMAN	CEP85	HGNC	.	.	UPI0000231C37	SNV	CEP85,synonymous_variant,p.%3D,ENST00000453146,;CEP85,synonymous_variant,p.%3D,ENST00000252992,;CEP85,synonymous_variant,p.%3D,ENST00000451429,;CEP85,downstream_gene_variant,,ENST00000480446,;CEP85,synonymous_variant,p.%3D,ENST00000476272,;RP11-231P20.5,downstream_gene_variant,,ENST00000603670,;	1430	205	215	SUCCESS
UBXN11	91544	.	GRCh37	1	26609381	26609381	+	synonymous_variant	Silent	SNP	C	C	T	rs775798959	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	90	0	ENST00000374221.3:c.1125G>A	p.Thr375=	p.T375=	ENST00000374221	NM_183008.2	375	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41288.1	1125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGTCTC	NONE	.	.	hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF4,Superfamily_domains:SSF54236	.	.	ENSP00000363339	.	14/16	.	.	.	.	.	.	.	.	rs775798959	14/16	PASS	ENST00000374222	Transcript	.	.	ENSG00000158062	30600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBX11_HUMAN	UBXN11	HGNC	.	.	UPI00004700E1	SNV	UBXN11,synonymous_variant,p.%3D,ENST00000374217,;UBXN11,synonymous_variant,p.%3D,ENST00000374222,;UBXN11,synonymous_variant,p.%3D,ENST00000357089,;UBXN11,synonymous_variant,p.%3D,ENST00000314675,;UBXN11,synonymous_variant,p.%3D,ENST00000374221,;UBXN11,synonymous_variant,p.%3D,ENST00000374223,;UBXN11,downstream_gene_variant,,ENST00000374215,;UBXN11,downstream_gene_variant,,ENST00000436301,;CEP85,downstream_gene_variant,,ENST00000252992,;UBXN11,downstream_gene_variant,,ENST00000452980,;UBXN11,downstream_gene_variant,,ENST00000442942,;SH3BGRL3,downstream_gene_variant,,ENST00000319041,;UBXN11,downstream_gene_variant,,ENST00000535108,;SH3BGRL3,downstream_gene_variant,,ENST00000270792,;CEP85,downstream_gene_variant,,ENST00000453146,;CEP85,downstream_gene_variant,,ENST00000469609,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;CEP85,downstream_gene_variant,,ENST00000476272,;	1590	90	86	SUCCESS
SYTL1	84958	.	GRCh37	1	27680339	27680339	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746317589	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	138	366	0	ENST00000543823.1:c.1685C>T	p.Thr562Met	p.T562M	ENST00000543823		562	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS53286.1	1685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGTAGC	NONE	byFrequency	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF11	.	.	ENSP00000440704	.	14/14	.	.	.	.	.	.	.	.	rs746317589	14/14	PASS	ENST00000543823	Transcript	.	.	ENSG00000142765	15584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	SYTL1_HUMAN	SYTL1	HGNC	Q5SSC6_HUMAN	.	UPI0000074245	SNV	SYTL1,missense_variant,p.Thr562Met,ENST00000543823,;SYTL1,missense_variant,p.Thr550Met,ENST00000318074,;MAP3K6,downstream_gene_variant,,ENST00000374040,;MAP3K6,downstream_gene_variant,,ENST00000486046,;MAP3K6,downstream_gene_variant,,ENST00000357582,;MAP3K6,downstream_gene_variant,,ENST00000472410,;MAP3K6,downstream_gene_variant,,ENST00000493901,;SYTL1,non_coding_transcript_exon_variant,,ENST00000490170,;SYTL1,non_coding_transcript_exon_variant,,ENST00000475199,;SYTL1,non_coding_transcript_exon_variant,,ENST00000483926,;SYTL1,downstream_gene_variant,,ENST00000496001,;SYTL1,downstream_gene_variant,,ENST00000485269,;MAP3K6,downstream_gene_variant,,ENST00000470890,;MAP3K6,downstream_gene_variant,,ENST00000476509,;MAP3K6,downstream_gene_variant,,ENST00000495230,;	2147	367	343	SUCCESS
FCN3	8547	.	GRCh37	1	27697179	27697179	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	155	0	ENST00000270879.4:c.566A>T	p.Asn189Ile	p.N189I	ENST00000270879	NM_003665.2	189	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS300.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGGTTACCA	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF173,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000270879	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000270879	Transcript	.	.	ENSG00000142748	3625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0.03)	.	FCN3_HUMAN	FCN3	HGNC	.	.	UPI00000343FF	SNV	FCN3,missense_variant,p.Asn178Ile,ENST00000354982,;FCN3,missense_variant,p.Asn189Ile,ENST00000270879,;MAP3K6,upstream_gene_variant,,ENST00000374040,;MAP3K6,upstream_gene_variant,,ENST00000357582,;MAP3K6,upstream_gene_variant,,ENST00000493901,;FCN3,non_coding_transcript_exon_variant,,ENST00000498393,;FCN3,downstream_gene_variant,,ENST00000481748,;	572	155	95	SUCCESS
AHDC1	27245	.	GRCh37	1	27876444	27876444	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746053039	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	58	227	0	ENST00000247087.5:c.2183G>A	p.Arg728Gln	p.R728Q	ENST00000247087		728	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS30652.1	2183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCGGCCC	NONE	byFrequency	.	hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	rs746053039	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	tolerated(0.07)	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	SNV	AHDC1,missense_variant,p.Arg728Gln,ENST00000247087,;AHDC1,missense_variant,p.Arg728Gln,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	3152	227	157	SUCCESS
SESN2	83667	.	GRCh37	1	28598852	28598852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	67	0	ENST00000253063.3:c.412C>A	p.Gln138Lys	p.Q138K	ENST00000253063	NM_031459.4	138	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS321.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGCAGACT	NONE	.	.	hmmpanther:PTHR12474:SF2,hmmpanther:PTHR12474,Pfam_domain:PF04636,Gene3D:1.20.1290.10,Superfamily_domains:SSF69118	.	.	ENSP00000253063	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000253063	Transcript	.	.	ENSG00000130766	20746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.81)	.	SESN2_HUMAN	SESN2	HGNC	.	.	UPI0000001C01	SNV	SESN2,missense_variant,p.Gln138Lys,ENST00000253063,;	733	67	79	SUCCESS
RAB42	115273	.	GRCh37	1	28920546	28920547	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs753536519	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	131	0	ENST00000373826.3:c.242dup	p.Val82CysfsTer38	p.V82Cfs*38	ENST00000373826	NM_152304.1	79	tgg/tGgg	0	.	.	.	.	.	G	W/WX	protein_coding	YES	CCDS325.1	235-236	INDELOCATOR|VARSCANI	.	AGGGCTGGGGG	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR24073:SF360,hmmpanther:PTHR24073,PROSITE_profiles:PS51419	.	.	ENSP00000362932	.	2/2	.	.	.	.	.	.	.	.	rs753536519,COSM1341594	2/2	PASS	ENST00000373826	Transcript	.	.	ENSG00000188060	28702	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	RAB42_HUMAN	RAB42	HGNC	.	.	UPI0000071C84	insertion	RAB42,frameshift_variant,p.Val82CysfsTer38,ENST00000373826,;RAB42,non_coding_transcript_exon_variant,,ENST00000465518,;TAF12,intron_variant,,ENST00000471683,;	541-542	131	87	SUCCESS
GMEB1	10691	.	GRCh37	1	29010172	29010172	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	35	141	0	ENST00000294409.2:c.48A>G	p.Val16=	p.V16=	ENST00000294409	NM_006582.3	16	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS327.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTACCTAC	NONE	.	.	hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF3,Low_complexity_(Seg):seg	.	.	ENSP00000294409	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000294409	Transcript	.	.	ENSG00000162419	4370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GMEB1_HUMAN	GMEB1	HGNC	.	.	UPI000012B8AB	SNV	GMEB1,synonymous_variant,p.%3D,ENST00000294409,;GMEB1,synonymous_variant,p.%3D,ENST00000373816,;GMEB1,synonymous_variant,p.%3D,ENST00000361872,;GMEB1,non_coding_transcript_exon_variant,,ENST00000480454,;	138	141	119	SUCCESS
PUM1	9698	.	GRCh37	1	31441258	31441258	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	95	0	ENST00000257075.5:c.1588G>A	p.Ala530Thr	p.A530T	ENST00000257075	NM_014676.2	530	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44099.1	1588	MUTECT|MUSE	.	TGCAGCTGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1	.	.	ENSP00000391723	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000426105	Transcript	.	.	ENSG00000134644	14957	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.836)	.	deleterious_low_confidence(0)	.	PUM1_HUMAN	PUM1	HGNC	E9PL65_HUMAN	.	UPI0000203D8E	SNV	PUM1,missense_variant,p.Ala530Thr,ENST00000426105,;PUM1,missense_variant,p.Ala288Thr,ENST00000424085,;PUM1,missense_variant,p.Ala434Thr,ENST00000423018,;PUM1,missense_variant,p.Ala530Thr,ENST00000257075,;PUM1,missense_variant,p.Ala548Thr,ENST00000525843,;PUM1,missense_variant,p.Ala531Thr,ENST00000373747,;PUM1,missense_variant,p.Ala471Thr,ENST00000373742,;PUM1,missense_variant,p.Ala531Thr,ENST00000440538,;PUM1,missense_variant,p.Ala218Thr,ENST00000532678,;PUM1,missense_variant,p.Ala566Thr,ENST00000373741,;PUM1,missense_variant,p.Ala242Thr,ENST00000498419,;SNORD85,upstream_gene_variant,,ENST00000363311,;PUM1,non_coding_transcript_exon_variant,,ENST00000490546,;PUM1,non_coding_transcript_exon_variant,,ENST00000471894,;PUM1,upstream_gene_variant,,ENST00000498627,;PUM1,upstream_gene_variant,,ENST00000527498,;	1679	95	84	SUCCESS
CSMD2	114784	.	GRCh37	1	34083155	34083155	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs761223081	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	39	89	0	ENST00000241312.4:c.5770C>T	p.Arg1924Cys	p.R1924C	ENST00000241312		1924	Cgc/Tgc	0	.	.	.	.	.	A	R/C	nonsense_mediated_decay	YES	CCDS380.1	5770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGCTCGC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	38/70	.	.	.	.	.	.	.	.	rs761223081	38/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Arg1964Cys,ENST00000373381,;CSMD2,missense_variant,p.Arg837Cys,ENST00000373380,;CSMD2,missense_variant,p.Arg63Cys,ENST00000373377,;CSMD2,missense_variant,p.Arg63Cys,ENST00000373388,;CSMD2,missense_variant,p.Arg1924Cys,ENST00000241312,;	5799	89	72	SUCCESS
CSMD2	114784	.	GRCh37	1	34090759	34090759	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs773685292	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	66	185	0	ENST00000241312.4:c.5272C>T	p.Arg1758Cys	p.R1758C	ENST00000241312		1758	Cgc/Tgc	0	.	.	.	.	.	A	R/C	nonsense_mediated_decay	YES	CCDS380.1	5272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGGACGA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	34/70	.	.	.	.	.	.	.	.	rs773685292	34/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Arg1798Cys,ENST00000373381,;CSMD2,missense_variant,p.Arg671Cys,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373377,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,missense_variant,p.Arg1758Cys,ENST00000241312,;	5301	185	159	SUCCESS
GJB4	127534	.	GRCh37	1	35227148	35227148	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748172389	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	83	0	ENST00000339480.1:c.293G>A	p.Arg98His	p.R98H	ENST00000339480	NM_153212.2	98	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS383.1	293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCGCGAGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF30,Gene3D:2zw3A00,Pfam_domain:PF00029	.	.	ENSP00000345868	.	2/2	.	.	.	.	.	.	.	.	rs748172389,COSM1317541	2/2	PASS	ENST00000339480	Transcript	.	.	ENSG00000189433	4286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.996)	.	deleterious(0.03)	0,1	CXB4_HUMAN	GJB4	HGNC	.	.	UPI0000051E4B	SNV	GJB4,missense_variant,p.Arg98His,ENST00000339480,;GJB5,downstream_gene_variant,,ENST00000338513,;RP1-34M23.5,non_coding_transcript_exon_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	663	84	67	SUCCESS
GJA4	2701	.	GRCh37	1	35260244	35260244	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757382942	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	41	0	ENST00000342280.4:c.430C>T	p.Arg144Cys	p.R144C	ENST00000342280	NM_002060.2	144	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS30669.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCGCCTG	NONE	.	.	Gene3D:2zw3A00,hmmpanther:PTHR11984:SF54,hmmpanther:PTHR11984	.	.	ENSP00000343676	.	2/2	.	.	.	.	.	.	.	.	rs757382942	2/2	PASS	ENST00000342280	Transcript	.	.	ENSG00000187513	4278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.05)	.	CXA4_HUMAN	GJA4	HGNC	Q5JW71_HUMAN	.	UPI000013E8EF	SNV	GJA4,missense_variant,p.Arg144Cys,ENST00000450137,;GJA4,missense_variant,p.Arg144Cys,ENST00000342280,;SMIM12,intron_variant,,ENST00000426886,;	518	41	43	SUCCESS
AGO3	192669	.	GRCh37	1	36521336	36521336	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	71	0	ENST00000373191.4:c.2573A>G	p.Tyr858Cys	p.Y858C	ENST00000373191	NM_024852.3	858	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS399.1	2573	MUTECT|MUSE	.	AATGTACTTCG	NONE	.	.	HAMAP:MF_03032,hmmpanther:PTHR22891:SF3,hmmpanther:PTHR22891	.	.	ENSP00000362287	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000373191	Transcript	.	.	ENSG00000126070	18421	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AGO3_HUMAN	AGO3	HGNC	B4DY67_HUMAN	.	UPI0000141361	SNV	AGO3,missense_variant,p.Tyr624Cys,ENST00000246314,;AGO3,missense_variant,p.Tyr858Cys,ENST00000373191,;AGO3,downstream_gene_variant,,ENST00000471099,;	2922	71	93	SUCCESS
OSCP1	127700	.	GRCh37	1	36915910	36915910	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	96	273	0	ENST00000356637.5:c.61C>A	p.Leu21Ile	p.L21I	ENST00000356637		21	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS409.2	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGAGGATGT	NONE	.	.	Pfam_domain:PF10188,hmmpanther:PTHR21439	.	.	ENSP00000235532	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000235532	Transcript	.	.	ENSG00000116885	29971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	deleterious(0.01)	.	OSCP1_HUMAN	OSCP1	HGNC	C9JF58_HUMAN	.	UPI000059CFA3	SNV	OSCP1,missense_variant,p.Leu21Ile,ENST00000315643,;OSCP1,missense_variant,p.Leu21Ile,ENST00000356637,;OSCP1,missense_variant,p.Leu21Ile,ENST00000235532,;OSCP1,missense_variant,p.Leu21Ile,ENST00000354267,;OSCP1,upstream_gene_variant,,ENST00000445843,;OSCP1,upstream_gene_variant,,ENST00000524789,;	143	273	299	SUCCESS
C1orf174	339448	.	GRCh37	1	3807306	3807306	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757932986	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	116	0	ENST00000361605.3:c.445G>A	p.Gly149Arg	p.G149R	ENST00000361605	NM_207356.2	149	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS53.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGGACC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000355306	.	3/4	.	.	.	.	.	.	.	.	rs757932986	3/4	PASS	ENST00000361605	Transcript	.	.	ENSG00000198912	27915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.37)	.	CA174_HUMAN	C1orf174	HGNC	.	.	UPI00001C1D98	SNV	C1orf174,missense_variant,p.Gly149Arg,ENST00000361605,;C1orf174,non_coding_transcript_exon_variant,,ENST00000486765,;C1orf174,non_coding_transcript_exon_variant,,ENST00000474140,;	544	116	87	SUCCESS
RHBDL2	54933	.	GRCh37	1	39352294	39352294	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	101	0	ENST00000289248.2:c.794T>C	p.Phe265Ser	p.F265S	ENST00000289248		265	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS30680.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTAAACACC	NONE	.	.	PIRSF_domain:PIRSF037470,Pfam_domain:PF01694,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF3,Transmembrane_helices:TMhelix	.	.	ENSP00000289248	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000289248	Transcript	.	.	ENSG00000158315	16083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	RHBL2_HUMAN	RHBDL2	HGNC	.	.	UPI0000048DB4	SNV	RHBDL2,missense_variant,p.Phe345Ser,ENST00000372985,;RHBDL2,missense_variant,p.Phe332Ser,ENST00000538156,;RHBDL2,missense_variant,p.Phe265Ser,ENST00000289248,;RHBDL2,missense_variant,p.Phe265Ser,ENST00000372990,;RP5-864K19.4,intron_variant,,ENST00000433671,;	1803	101	92	SUCCESS
MACF1	23499	.	GRCh37	1	39827077	39827077	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	61	228	0	ENST00000372915.3:c.12514A>G	p.Thr4172Ala	p.T4172A	ENST00000372915		4172	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS435.1	6313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCACCCGT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	44/94	.	.	.	.	.	.	.	.	.	44/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Thr1239Ala,ENST00000372925,;MACF1,missense_variant,p.Thr2105Ala,ENST00000361689,;MACF1,missense_variant,p.Thr2607Ala,ENST00000289893,;MACF1,missense_variant,p.Thr4167Ala,ENST00000564288,;MACF1,missense_variant,p.Thr2105Ala,ENST00000539005,;MACF1,missense_variant,p.Thr4172Ala,ENST00000372915,;MACF1,missense_variant,p.Thr2105Ala,ENST00000317713,;MACF1,missense_variant,p.Thr4204Ala,ENST00000567887,;MACF1,missense_variant,p.Thr2105Ala,ENST00000545844,;MACF1,downstream_gene_variant,,ENST00000530262,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;	6421	228	224	SUCCESS
COL9A2	1298	.	GRCh37	1	40771858	40771858	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	rs199502479	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	56	0	ENST00000372748.3:c.1010G>C	p.Gly337Ala	p.G337A	ENST00000372748	NM_001852.3	337	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS450.1	1010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACCCTGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000361834	.	20/32	.	.	.	.	.	.	.	.	rs199502479,COSM3489543	20/32	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.939)	.	deleterious(0.01)	0,1	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	SNV	COL9A2,missense_variant,p.Gly337Ala,ENST00000372748,;COL9A2,downstream_gene_variant,,ENST00000417105,;COL9A2,upstream_gene_variant,,ENST00000427563,;COL9A2,upstream_gene_variant,,ENST00000466267,;COL9A2,splice_region_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;	1107	56	62	SUCCESS
TIE1	7075	.	GRCh37	1	43772515	43772515	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	53	0	ENST00000372476.3:c.489C>A	p.Ser163=	p.S163=	ENST00000372476	NM_005424.4	163	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS482.1	489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCTACTT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895	.	.	ENSP00000361554	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000372476	Transcript	.	.	ENSG00000066056	11809	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIE1_HUMAN	TIE1	HGNC	Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN	.	UPI0000032E59	SNV	TIE1,synonymous_variant,p.%3D,ENST00000372476,;TIE1,synonymous_variant,p.%3D,ENST00000441333,;TIE1,synonymous_variant,p.%3D,ENST00000538015,;TIE1,upstream_gene_variant,,ENST00000433781,;TIE1,downstream_gene_variant,,ENST00000485125,;TIE1,upstream_gene_variant,,ENST00000480269,;TIE1,upstream_gene_variant,,ENST00000488437,;	568	53	32	SUCCESS
SZT2	23334	.	GRCh37	1	43895374	43895374	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	75	0	ENST00000562955.1:c.3996C>T		p.X1332_splice	ENST00000562955	NM_015284.3	1332	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30694.2	3996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCATAGA	NONE	.	.	hmmpanther:PTHR14918	.	.	ENSP00000457168	.	28/71	.	.	.	.	.	.	.	.	.	28/71	PASS	ENST00000562955	Transcript	.	.	ENSG00000198198	29040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SZT2_HUMAN	SZT2	HGNC	.	.	UPI0001E24F46	SNV	SZT2,synonymous_variant,p.%3D,ENST00000372442,;SZT2,synonymous_variant,p.%3D,ENST00000562955,;SZT2,downstream_gene_variant,,ENST00000470139,;SZT2,upstream_gene_variant,,ENST00000478140,;	3996	75	81	SUCCESS
TOE1	114034	.	GRCh37	1	45806886	45806886	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1557524547	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	105	0	ENST00000372090.5:c.194C>T	p.Thr65Met	p.T65M	ENST00000372090	NM_025077.3	65	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS521.1	194	MUTECT|MUSE	.	GGACACGGTGA	NONE	.	.	Superfamily_domains:SSF53098,Pfam_domain:PF04857,Gene3D:3.30.420.10,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF24	.	.	ENSP00000361162	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000372090	Transcript	.	.	ENSG00000132773	15954	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.708)	.	deleterious(0.03)	.	TOE1_HUMAN	TOE1	HGNC	B3KSC7_HUMAN	.	UPI00000382DE	SNV	TOE1,missense_variant,p.Thr65Met,ENST00000372090,;TOE1,intron_variant,,ENST00000539779,;MUTYH,upstream_gene_variant,,ENST00000372098,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000531105,;MUTYH,upstream_gene_variant,,ENST00000372110,;MUTYH,upstream_gene_variant,,ENST00000355498,;MUTYH,upstream_gene_variant,,ENST00000450313,;MUTYH,upstream_gene_variant,,ENST00000372104,;MUTYH,upstream_gene_variant,,ENST00000372115,;TESK2,downstream_gene_variant,,ENST00000341771,;TESK2,downstream_gene_variant,,ENST00000538496,;MUTYH,upstream_gene_variant,,ENST00000528013,;MUTYH,upstream_gene_variant,,ENST00000448481,;MUTYH,upstream_gene_variant,,ENST00000456914,;MUTYH,upstream_gene_variant,,ENST00000372100,;MUTYH,upstream_gene_variant,,ENST00000488731,;MUTYH,upstream_gene_variant,,ENST00000529984,;TESK2,downstream_gene_variant,,ENST00000372086,;MUTYH,upstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000435155,;TESK2,downstream_gene_variant,,ENST00000372084,;MUTYH,upstream_gene_variant,,ENST00000354383,;MUTYH,upstream_gene_variant,,ENST00000528332,;TOE1,splice_region_variant,,ENST00000495703,;TOE1,splice_region_variant,,ENST00000477731,;TOE1,splice_region_variant,,ENST00000471337,;TESK2,downstream_gene_variant,,ENST00000486676,;TOE1,upstream_gene_variant,,ENST00000460057,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000470256,;MUTYH,upstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485484,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000492494,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000479746,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000483642,;	777	105	114	SUCCESS
MMACHC	25974	.	GRCh37	1	45974679	45974679	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202189863	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	104	0	ENST00000401061.4:c.641G>A	p.Arg214His	p.R214H	ENST00000401061	NM_015506.2	214	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS41324.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGCTACT	BUFFER|p.E213K|c.637G>A|3	byCluster	.	hmmpanther:PTHR31457	.	.	ENSP00000383840	.	4/4	.	.	.	.	.	.	.	.	rs202189863	4/4	PASS	ENST00000401061	Transcript	.	.	ENSG00000132763	24525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	deleterious(0.05)	.	MMAC_HUMAN	MMACHC	HGNC	.	.	UPI00001C1D6D	SNV	MMACHC,missense_variant,p.Arg214His,ENST00000401061,;PRDX1,downstream_gene_variant,,ENST00000372079,;PRDX1,downstream_gene_variant,,ENST00000319248,;PRDX1,downstream_gene_variant,,ENST00000262746,;MMACHC,upstream_gene_variant,,ENST00000477188,;	921	104	104	SUCCESS
SLC5A9	200010	.	GRCh37	1	48696305	48696305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	76	0	ENST00000438567.2:c.538A>T	p.Met180Leu	p.M180L	ENST00000438567	NM_001011547.2	180	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS44136.1	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGATGGCA	NONE	.	.	Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF96,PROSITE_profiles:PS50283	.	.	ENSP00000236495	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000236495	Transcript	.	.	ENSG00000117834	22146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	SC5A9_HUMAN	SLC5A9	HGNC	.	.	UPI0000251D94	SNV	SLC5A9,missense_variant,p.Met201Leu,ENST00000533824,;SLC5A9,missense_variant,p.Met180Leu,ENST00000438567,;SLC5A9,missense_variant,p.Met205Leu,ENST00000236495,;SLC5A9,intron_variant,,ENST00000420136,;RP5-1024N4.4,upstream_gene_variant,,ENST00000606809,;SLC5A9,missense_variant,p.Met180Leu,ENST00000425816,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000527929,;SLC5A9,intron_variant,,ENST00000441260,;SLC5A9,intron_variant,,ENST00000493837,;	663	76	68	SUCCESS
CDKN2C	1031	.	GRCh37	1	51439649	51439649	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771853517	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	38	90	0	ENST00000262662.1:c.214G>A	p.Ala72Thr	p.A72T	ENST00000262662		72	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS555.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCGCTGTC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24148:SF0,hmmpanther:PTHR24148,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000262662	.	4/4	.	.	.	.	.	.	.	.	rs771853517,COSM1247975	4/4	PASS	ENST00000262662	Transcript	.	.	ENSG00000123080	1789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.057)	.	tolerated(1)	0,1	CDN2C_HUMAN	CDKN2C	HGNC	Q9P1T2_HUMAN,Q6ICV4_HUMAN	.	UPI0000047FD9	SNV	CDKN2C,missense_variant,p.Ala72Thr,ENST00000371761,;CDKN2C,missense_variant,p.Ala72Thr,ENST00000396148,;CDKN2C,missense_variant,p.Ala72Thr,ENST00000262662,;	2248	90	118	SUCCESS
CPT2	1376	.	GRCh37	1	53679110	53679110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201913567	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	143	0	ENST00000371486.3:c.1820C>T	p.Ser607Phe	p.S607F	ENST00000371486	NM_000098.2	607	tCt/tTt	0	.	G:0	.	G:0	.	T	S/F	protein_coding	YES	CCDS575.1	1820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCTGATG	NONE	byCluster|by1000G	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF51,Pfam_domain:PF00755,Superfamily_domains:SSF52777	G:0.001	.	ENSP00000360541	G:0	5/5	.	.	.	.	.	.	.	.	rs201913567	5/5	PASS	ENST00000371486	Transcript	.	G:0.0002	ENSG00000157184	2330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	G:0	deleterious(0)	.	CPT2_HUMAN	CPT2	HGNC	.	.	UPI0000128303	SNV	CPT2,missense_variant,p.Ser607Phe,ENST00000371486,;C1orf123,downstream_gene_variant,,ENST00000294360,;RP5-1024G6.2,non_coding_transcript_exon_variant,,ENST00000452466,;C1orf123,downstream_gene_variant,,ENST00000470385,;C1orf123,downstream_gene_variant,,ENST00000478839,;C1orf123,downstream_gene_variant,,ENST00000483739,;C1orf123,downstream_gene_variant,,ENST00000489755,;	2335	143	138	SUCCESS
CHD5	26038	.	GRCh37	1	6202186	6202186	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	116	0	ENST00000262450.3:c.2436+2T>C		p.X812_splice	ENST00000262450	NM_015557.2	812		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS57.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCACCTTC	NONE	.	.	.	.	.	ENSP00000262450	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	HIGH	15/41	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,splice_donor_variant,,ENST00000378021,;CHD5,splice_donor_variant,,ENST00000262450,;CHD5,splice_donor_variant,,ENST00000496404,;CHD5,splice_donor_variant,,ENST00000462991,;	.	116	109	SUCCESS
ZBTB48	3104	.	GRCh37	1	6642238	6642238	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	55	187	0	ENST00000377674.4:c.811C>T	p.Leu271=	p.L271=	ENST00000377674	NM_001278648.1	271	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS84.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCTGAGC	NONE	.	.	hmmpanther:PTHR24375:SF5,hmmpanther:PTHR24375	.	.	ENSP00000366902	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000377674	Transcript	.	.	ENSG00000204859	4930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT48_HUMAN	ZBTB48	HGNC	Q6LCP1_HUMAN,Q5SY21_HUMAN,Q5SY20_HUMAN,K7EM76_HUMAN	.	UPI000012C932	SNV	ZBTB48,synonymous_variant,p.%3D,ENST00000435905,;ZBTB48,synonymous_variant,p.%3D,ENST00000488936,;ZBTB48,synonymous_variant,p.%3D,ENST00000377674,;ZBTB48,synonymous_variant,p.%3D,ENST00000319084,;TAS1R1,downstream_gene_variant,,ENST00000415267,;TAS1R1,downstream_gene_variant,,ENST00000351136,;TAS1R1,downstream_gene_variant,,ENST00000333172,;TAS1R1,downstream_gene_variant,,ENST00000328191,;TAS1R1,downstream_gene_variant,,ENST00000411823,;ZBTB48,upstream_gene_variant,,ENST00000498342,;ZBTB48,upstream_gene_variant,,ENST00000482360,;	969	187	152	SUCCESS
DNAJC11	55735	.	GRCh37	1	6697322	6697322	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	118	0	ENST00000377577.5:c.1460A>G	p.Asp487Gly	p.D487G	ENST00000377577	NM_018198.3	487	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS87.1	1460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGTCAATC	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF159,Pfam_domain:PF11875	.	.	ENSP00000366800	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000377577	Transcript	.	.	ENSG00000007923	25570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	DJC11_HUMAN	DNAJC11	HGNC	F5H1N1_HUMAN,B3KTC6_HUMAN	.	UPI000020544B	SNV	DNAJC11,missense_variant,p.Asp397Gly,ENST00000377573,;DNAJC11,missense_variant,p.Asp435Gly,ENST00000294401,;DNAJC11,missense_variant,p.Asp487Gly,ENST00000377577,;DNAJC11,missense_variant,p.Asp449Gly,ENST00000542246,;DNAJC11,intron_variant,,ENST00000349363,;DNAJC11,intron_variant,,ENST00000451196,;THAP3,downstream_gene_variant,,ENST00000307896,;THAP3,downstream_gene_variant,,ENST00000054650,;THAP3,downstream_gene_variant,,ENST00000472925,;THAP3,downstream_gene_variant,,ENST00000377627,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000465508,;DNAJC11,downstream_gene_variant,,ENST00000472414,;THAP3,downstream_gene_variant,,ENST00000484669,;THAP3,downstream_gene_variant,,ENST00000487819,;	1584	118	98	SUCCESS
DIRAS3	9077	.	GRCh37	1	68512696	68512696	+	synonymous_variant	Silent	SNP	G	G	A	rs763794708	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	66	101	0	ENST00000370981.1:c.285C>T	p.Gly95=	p.G95=	ENST00000370981		95	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS641.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCGCCACT	NONE	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,hmmpanther:PTHR24070:SF202,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000360020	.	4/4	.	.	.	.	.	.	.	.	rs763794708	4/4	PASS	ENST00000370981	Transcript	.	.	ENSG00000162595	687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIRA3_HUMAN	DIRAS3	HGNC	.	.	UPI0000133893	SNV	DIRAS3,synonymous_variant,p.%3D,ENST00000370981,;DIRAS3,synonymous_variant,p.%3D,ENST00000395201,;GNG12-AS1,intron_variant,,ENST00000413628,;GNG12-AS1,intron_variant,,ENST00000420587,;ARL5AP3,downstream_gene_variant,,ENST00000439327,;RP4-609E1.2,downstream_gene_variant,,ENST00000435784,;	922	101	130	SUCCESS
RPE65	6121	.	GRCh37	1	68905283	68905283	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	77	0	ENST00000262340.5:c.686T>C	p.Phe229Ser	p.F229S	ENST00000262340	NM_000329.2	229	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS643.1	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGAATTGT	BUFFER|p.I225I|c.675C>T|3	.	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7,Pfam_domain:PF03055	.	.	ENSP00000262340	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000262340	Transcript	.	.	ENSG00000116745	10294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	RPE65_HUMAN	RPE65	HGNC	Q2EKB8_HUMAN,C7FEP0_HUMAN	.	UPI000004346C	SNV	RPE65,missense_variant,p.Phe229Ser,ENST00000262340,;	740	77	69	SUCCESS
LRRC7	57554	.	GRCh37	1	70144102	70144102	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	36	121	0	ENST00000370958.1:c.41A>G	p.Tyr14Cys	p.Y14C	ENST00000370958		14	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	.	.	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATACCAGA	NONE	.	.	.	.	.	ENSP00000359997	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000370958	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0)	.	.	LRRC7	HGNC	B1AKT2_HUMAN	.	UPI000018DB0D	SNV	LRRC7,missense_variant,p.Tyr14Cys,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000310961,;	231	121	113	SUCCESS
LRRC40	55631	.	GRCh37	1	70614318	70614318	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs773632159	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	104	0	ENST00000370952.3:c.1555A>T	p.Thr519Ser	p.T519S	ENST00000370952	NM_017768.4	519	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS646.1	1555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGTGAAGA	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF424,hmmpanther:PTHR23155,PROSITE_profiles:PS51450	.	.	ENSP00000359990	.	14/15	.	.	.	.	.	.	.	.	rs773632159	14/15	PASS	ENST00000370952	Transcript	.	.	ENSG00000066557	26004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.77)	.	LRC40_HUMAN	LRRC40	HGNC	.	.	UPI000004A0A0	SNV	LRRC40,missense_variant,p.Thr519Ser,ENST00000370952,;LRRC7,intron_variant,,ENST00000441830,;LRRC7,downstream_gene_variant,,ENST00000565615,;LRRC7,downstream_gene_variant,,ENST00000609072,;LRRC7,downstream_gene_variant,,ENST00000588515,;LRRC7,downstream_gene_variant,,ENST00000608744,;LRRC7,downstream_gene_variant,,ENST00000607936,;	1635	104	80	SUCCESS
PTGER3	5733	.	GRCh37	1	71437417	71437417	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	327	192	560	0	ENST00000306666.5:c.1170-1G>A		p.X390_splice	ENST00000306666	NM_198719.1	390		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS655.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATCTGTTA	NONE	.	.	.	.	.	ENSP00000349003	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,splice_acceptor_variant,,ENST00000306666,;PTGER3,intron_variant,,ENST00000370932,;PTGER3,intron_variant,,ENST00000351052,;PTGER3,intron_variant,,ENST00000354608,;PTGER3,intron_variant,,ENST00000356595,;PTGER3,intron_variant,,ENST00000460330,;PTGER3,intron_variant,,ENST00000370931,;PTGER3,intron_variant,,ENST00000414819,;PTGER3,intron_variant,,ENST00000361210,;PTGER3,intron_variant,,ENST00000479353,;PTGER3,intron_variant,,ENST00000497146,;	.	560	520	SUCCESS
ST6GALNAC3	256435	.	GRCh37	1	77094388	77094388	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750135866	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	71	0	ENST00000328299.3:c.815C>T	p.Ala272Val	p.A272V	ENST00000328299	NM_152996.2	272	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS672.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCCCCAT	NONE	.	.	hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF49,Pfam_domain:PF00777	.	.	ENSP00000329214	.	5/5	.	.	.	.	.	.	.	.	rs750135866	5/5	PASS	ENST00000328299	Transcript	.	.	ENSG00000184005	19343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	SIA7C_HUMAN	ST6GALNAC3	HGNC	.	.	UPI000006F75A	SNV	ST6GALNAC3,missense_variant,p.Ala272Val,ENST00000328299,;	963	71	81	SUCCESS
PIGK	10026	.	GRCh37	1	77620074	77620074	+	intron_variant	Intron	DEL	A	A	-	rs770940038	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	42	104	0	ENST00000370812.3:c.986+60del		p.*329*	ENST00000370812	NM_005482.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS674.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTTCAAAAAA	NONE	.	.	.	.	.	ENSP00000359848	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370812	Transcript	.	.	ENSG00000142892	8965	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPI8_HUMAN	PIGK	HGNC	.	.	UPI000012B9D1	deletion	PIGK,3_prime_UTR_variant,,ENST00000359130,;PIGK,intron_variant,,ENST00000445065,;PIGK,intron_variant,,ENST00000370813,;PIGK,intron_variant,,ENST00000370812,;PIGK,downstream_gene_variant,,ENST00000478391,;PIGK,intron_variant,,ENST00000487906,;	.	104	150	SUCCESS
PER3	8863	.	GRCh37	1	7854025	7854025	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772505358	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	56	103	0	ENST00000361923.2:c.598C>T	p.Arg200Trp	p.R200W	ENST00000361923	NM_016831.1	200	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS89.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGGTAT	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	.	.	ENSP00000355031	.	5/21	.	.	.	.	.	.	.	.	rs772505358	5/21	PASS	ENST00000361923	Transcript	.	.	ENSG00000049246	8847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0.03)	.	PER3_HUMAN	PER3	HGNC	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN	.	UPI0000167B1D	SNV	PER3,missense_variant,p.Arg200Trp,ENST00000377541,;PER3,missense_variant,p.Arg201Trp,ENST00000377532,;PER3,missense_variant,p.Arg200Trp,ENST00000361923,;	773	103	119	SUCCESS
PER3	8863	.	GRCh37	1	7887318	7887318	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1459720653	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	65	142	0	ENST00000361923.2:c.2305C>T	p.Pro769Ser	p.P769S	ENST00000361923	NM_016831.1	769	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS89.1	2305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	.	.	ENSP00000355031	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000361923	Transcript	.	.	ENSG00000049246	8847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	tolerated(0.06)	.	PER3_HUMAN	PER3	HGNC	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN	.	UPI0000167B1D	SNV	PER3,missense_variant,p.Pro777Ser,ENST00000377532,;PER3,missense_variant,p.Pro769Ser,ENST00000361923,;RP3-467L1.4,non_coding_transcript_exon_variant,,ENST00000451646,;	2480	142	151	SUCCESS
CCBL2	0	.	GRCh37	1	89453938	89453940	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	438	96	591	0	ENST00000260508.4:c.94_96del	p.Ser32del	p.S32del	ENST00000260508	NM_001008661.2	32	TCT/-	0	.	.	.	.	.	-	S/-	protein_coding	YES	CCDS30766.1	94-96	INDELOCATOR*|VARSCANI*|PINDEL	.	TACAGCAGAAGTAG	NONE	.	.	hmmpanther:PTHR11751:SF336,hmmpanther:PTHR11751	.	.	ENSP00000260508	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000260508	Transcript	.	.	ENSG00000137944	33238	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAT3_HUMAN	CCBL2	HGNC	B4DW13_HUMAN	.	UPI0000155712	deletion	CCBL2,inframe_deletion,p.Ser32del,ENST00000370485,;CCBL2,inframe_deletion,p.Ser32del,ENST00000370486,;CCBL2,inframe_deletion,p.Ser32del,ENST00000260508,;RBMXL1,5_prime_UTR_variant,,ENST00000399794,;CCBL2,intron_variant,,ENST00000370491,;RBMXL1,intron_variant,,ENST00000321792,;CCBL2,non_coding_transcript_exon_variant,,ENST00000446900,;RBMXL1,non_coding_transcript_exon_variant,,ENST00000413769,;	432-434	591	534	SUCCESS
CDC7	8317	.	GRCh37	1	91977470	91977470	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs539320135	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	375	21	362	0	ENST00000234626.6:c.562C>T	p.Arg188Cys	p.R188C	ENST00000234626	NM_001134419.1	188	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS734.1	562	MUTECT|MUSE	.	ATAGGCGCCTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF7,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000393139	.	6/12	.	.	.	.	.	.	.	.	rs539320135,COSM4010572	6/12	PASS	ENST00000428239	Transcript	.	.	ENSG00000097046	1745	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.052)	.	deleterious(0.02)	0,1	CDC7_HUMAN	CDC7	HGNC	B1AMW7_HUMAN	.	UPI0000127400	SNV	CDC7,missense_variant,p.Arg160Cys,ENST00000430031,;CDC7,missense_variant,p.Arg188Cys,ENST00000428239,;CDC7,missense_variant,p.Arg188Cys,ENST00000234626,;CDC7,downstream_gene_variant,,ENST00000426137,;CDC7,upstream_gene_variant,,ENST00000486509,;CDC7,downstream_gene_variant,,ENST00000497611,;	821	362	396	SUCCESS
CLSTN1	22883	.	GRCh37	1	9795966	9795966	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201640412	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	75	0	ENST00000377298.4:c.1711G>A	p.Glu571Lys	p.E571K	ENST00000377298	NM_001009566.1	571	Gaa/Aaa	0	T:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS30580.1	1711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCGAGGA	NONE	byCluster	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF4	.	T:0.0005	ENSP00000366513	.	12/19	.	.	.	.	.	.	.	.	rs201640412,COSM279942	12/19	PASS	ENST00000377298	Transcript	.	.	ENSG00000171603	17447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	.	deleterious(0.03)	0,1	CSTN1_HUMAN	CLSTN1	HGNC	.	.	UPI0000127B95	SNV	CLSTN1,missense_variant,p.Glu372Lys,ENST00000435891,;CLSTN1,missense_variant,p.Glu571Lys,ENST00000377298,;CLSTN1,missense_variant,p.Glu552Lys,ENST00000377288,;CLSTN1,missense_variant,p.Glu561Lys,ENST00000361311,;CLSTN1,upstream_gene_variant,,ENST00000477264,;	2504	75	85	SUCCESS
JAG1	182	.	GRCh37	20	10620156	10620156	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	119	0	ENST00000254958.5:c.3647A>G	p.Tyr1216Cys	p.Y1216C	ENST00000254958	NM_000214.2	1216	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13112.1	3647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTACTCC	BUFFER|p.I1217I|c.3651C>T|3,BUFFER|p.I1217I|c.3651C>T|3	.	.	hmmpanther:PTHR24044:SF212,hmmpanther:PTHR24044	.	.	ENSP00000254958	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000254958	Transcript	1	.	ENSG00000101384	6188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious_low_confidence(0)	.	JAG1_HUMAN	JAG1	HGNC	B7U6M8_HUMAN,B4DYR1_HUMAN	.	UPI00000498B5	SNV	JAG1,missense_variant,p.Tyr1057Cys,ENST00000423891,;JAG1,missense_variant,p.Tyr1216Cys,ENST00000254958,;SLX4IP,downstream_gene_variant,,ENST00000488816,;	4163	119	114	SUCCESS
SNPH	9751	.	GRCh37	20	1281220	1281220	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	5	144	0	ENST00000381873.3:c.173A>G	p.Tyr58Cys	p.Y58C	ENST00000381873	NM_014723.2	58	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13012.1	173	MUTECT|MUSE	.	GAAATACACGC	NONE	.	.	hmmpanther:PTHR16208:SF1,hmmpanther:PTHR16208,Pfam_domain:PF15290	.	.	ENSP00000371297	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000381873	Transcript	.	.	ENSG00000101298	15931	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SNPH_HUMAN	SNPH	HGNC	.	.	UPI000007424E	SNV	SNPH,missense_variant,p.Tyr58Cys,ENST00000381873,;SNPH,missense_variant,p.Tyr102Cys,ENST00000381867,;RAD21L1,downstream_gene_variant,,ENST00000402452,;RAD21L1,downstream_gene_variant,,ENST00000381882,;	409	144	151	SUCCESS
FLRT3	23767	.	GRCh37	20	14307168	14307168	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	69	209	0	ENST00000341420.4:c.985G>A	p.Val329Met	p.V329M	ENST00000341420	NM_198391.2	329	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS13121.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCACGTTGA	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF4,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000367292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378053	Transcript	1	.	ENSG00000125848	3762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FLRT3_HUMAN	FLRT3	HGNC	.	.	UPI0000001BE7	SNV	FLRT3,missense_variant,p.Val329Met,ENST00000378053,;FLRT3,missense_variant,p.Val329Met,ENST00000341420,;MACROD2,intron_variant,,ENST00000217246,;MACROD2,intron_variant,,ENST00000310348,;MACROD2,intron_variant,,ENST00000490428,;MACROD2,intron_variant,,ENST00000494602,;MACROD2,intron_variant,,ENST00000477147,;FLRT3,downstream_gene_variant,,ENST00000462077,;	1242	209	195	SUCCESS
DZANK1	55184	.	GRCh37	20	18365673	18365673	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758691948	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	89	0	ENST00000262547.5:c.2080G>A	p.Ala694Thr	p.A694T	ENST00000262547	NM_001099407.1	694	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46582.1	2080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCGGTGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR16058:SF4,hmmpanther:PTHR16058,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000262547	.	20/21	.	.	.	.	.	.	.	.	rs758691948,COSM1190230,COSM1190231	20/21	PASS	ENST00000262547	Transcript	.	.	ENSG00000089091	15858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.01)	.	tolerated(0.5)	0,1,1	DZAN1_HUMAN	DZANK1	HGNC	.	.	UPI0000E064B4	SNV	DZANK1,missense_variant,p.Ala694Thr,ENST00000358866,;DZANK1,missense_variant,p.Ala580Thr,ENST00000357236,;DZANK1,missense_variant,p.Ala672Thr,ENST00000329494,;DZANK1,missense_variant,p.Ala694Thr,ENST00000262547,;LINC00851,downstream_gene_variant,,ENST00000423033,;LINC00851,downstream_gene_variant,,ENST00000594642,;DZANK1,non_coding_transcript_exon_variant,,ENST00000476058,;DZANK1,non_coding_transcript_exon_variant,,ENST00000487128,;DZANK1,3_prime_UTR_variant,,ENST00000609267,;DZANK1,3_prime_UTR_variant,,ENST00000377630,;DZANK1,3_prime_UTR_variant,,ENST00000608192,;	2289	89	83	SUCCESS
C20orf78	0	.	GRCh37	20	18805926	18805926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	87	0	ENST00000278779.4:c.100A>G	p.Lys34Glu	p.K34E	ENST00000278779	NM_001242671.1	34	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS56181.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTTGTGGG	NONE	.	.	.	.	.	ENSP00000278779	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000278779	Transcript	.	.	ENSG00000149443	16210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	tolerated_low_confidence(0.3)	.	CT078_HUMAN	C20orf78	HGNC	.	.	UPI00001285EC	SNV	C20orf78,missense_variant,p.Lys34Glu,ENST00000278779,;	202	87	73	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20506994	20506994	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	90	242	0	ENST00000202677.7:c.3595A>C	p.Ile1199Leu	p.I1199L	ENST00000202677	NM_020343.3	1199	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS46584.1	3595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGATTTTGT	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Superfamily_domains:SSF48371	.	.	ENSP00000202677	.	28/40	.	.	.	.	.	.	.	.	.	28/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.61)	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,missense_variant,p.Ile1199Leu,ENST00000202677,;RALGAPA2,missense_variant,p.Ile1016Leu,ENST00000430436,;	3603	243	248	SUCCESS
PAX1	5075	.	GRCh37	20	21687178	21687178	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	69	0	ENST00000398485.2:c.389G>A	p.Gly130Asp	p.G130D	ENST00000398485	NM_006192.4	130	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS13146.2	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCATCC	NONE	.	.	PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262,Pfam_domain:PF00292,Gene3D:1.10.10.10,SMART_domains:SM00351,Superfamily_domains:SSF46689,Prints_domain:PR00027	.	.	ENSP00000381499	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000398485	Transcript	1	.	ENSG00000125813	8615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PAX1_HUMAN	PAX1	HGNC	.	.	UPI000179A786	SNV	PAX1,missense_variant,p.Gly106Asp,ENST00000444366,;PAX1,missense_variant,p.Gly130Asp,ENST00000398485,;PAX1,intron_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	443	69	77	SUCCESS
GGTLC1	92086	.	GRCh37	20	23966744	23966744	+	synonymous_variant	Silent	SNP	T	T	A	rs748225470	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	95	282	2	ENST00000278765.4:c.273A>T	p.Val91=	p.V91=	ENST00000278765	NM_178312.2	91	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13163.1	273	SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGTACCCC	NONE	byFrequency	.	hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686,Pfam_domain:PF01019,Superfamily_domains:SSF56235	.	.	ENSP00000337587	.	3/6	.	.	.	.	.	.	.	.	rs748225470	3/6	PASS	ENST00000335694	Transcript	.	.	ENSG00000149435	16437	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GGTL1_HUMAN	GGTLC1	HGNC	.	.	UPI0000073C4D	SNV	GGTLC1,synonymous_variant,p.%3D,ENST00000286890,;GGTLC1,synonymous_variant,p.%3D,ENST00000335694,;GGTLC1,synonymous_variant,p.%3D,ENST00000278765,;POM121L3P,upstream_gene_variant,,ENST00000419331,;	478	284	265	SUCCESS
NANP	140838	.	GRCh37	20	25604493	25604493	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	43	141	0	ENST00000304788.3:c.90+2T>A		p.X30_splice	ENST00000304788	NM_152667.2	30		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13173.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTTACCTCC	NONE	.	.	.	.	.	ENSP00000302441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304788	Transcript	.	.	ENSG00000170191	16140	.	.	HIGH	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANP_HUMAN	NANP	HGNC	.	.	UPI0000070FB9	SNV	NANP,splice_donor_variant,,ENST00000304788,;ZNF337-AS1,upstream_gene_variant,,ENST00000428254,;ZNF337-AS1,upstream_gene_variant,,ENST00000455791,;ZNF337-AS1,upstream_gene_variant,,ENST00000414393,;ZNF337-AS1,upstream_gene_variant,,ENST00000439498,;ZNF337-AS1,upstream_gene_variant,,ENST00000420803,;	.	141	129	SUCCESS
NOP56	10528	.	GRCh37	20	2635511	2635511	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	94	0	ENST00000329276.5:c.487C>T	p.Arg163Trp	p.R163W	ENST00000329276	NM_006392.3	163	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS13030.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCGGGTG	NONE	.	.	hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894,Superfamily_domains:SSF89124	.	.	ENSP00000370589	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	deleterious(0)	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,missense_variant,p.Arg163Trp,ENST00000445139,;NOP56,missense_variant,p.Arg163Trp,ENST00000329276,;IDH3B,downstream_gene_variant,,ENST00000380851,;IDH3B,downstream_gene_variant,,ENST00000380843,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORD86,upstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORA51,upstream_gene_variant,,ENST00000606420,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,upstream_gene_variant,,ENST00000413522,;NOP56,non_coding_transcript_exon_variant,,ENST00000480992,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000492240,;NOP56,upstream_gene_variant,,ENST00000480447,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000492135,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000470143,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,upstream_gene_variant,,ENST00000467196,;	1003	94	89	SUCCESS
PCED1A	64773	.	GRCh37	20	2816143	2816143	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759246775	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	61	146	1	ENST00000360652.2:c.1330C>T	p.Arg444Trp	p.R444W	ENST00000360652	NM_022760.4	444	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS13035.1	1330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGTCTGT	NONE	byCluster	.	hmmpanther:PTHR14469:SF3,hmmpanther:PTHR14469	.	.	ENSP00000353868	.	8/8	.	.	.	.	.	.	.	.	rs759246775	8/8	PASS	ENST00000360652	Transcript	.	.	ENSG00000132635	16212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.13)	.	PED1A_HUMAN	PCED1A	HGNC	.	.	UPI00001285EE	SNV	PCED1A,missense_variant,p.Arg117Trp,ENST00000474714,;PCED1A,missense_variant,p.Arg444Trp,ENST00000360652,;PCED1A,missense_variant,p.Arg393Trp,ENST00000356872,;PCED1A,downstream_gene_variant,,ENST00000439542,;PCED1A,downstream_gene_variant,,ENST00000448755,;PCED1A,non_coding_transcript_exon_variant,,ENST00000487501,;	1833	147	124	SUCCESS
UBOX5	22888	.	GRCh37	20	3102753	3102753	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	40	103	0	ENST00000217173.2:c.532A>G	p.Thr178Ala	p.T178A	ENST00000217173	NM_001267584.1	178	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13046.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGTGATAC	NONE	.	.	hmmpanther:PTHR13492:SF1,hmmpanther:PTHR13492	.	.	ENSP00000217173	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000217173	Transcript	.	.	ENSG00000185019	17777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.26)	.	RNF37_HUMAN	UBOX5	HGNC	A2A2Q6_HUMAN	.	UPI0000137935	SNV	UBOX5,missense_variant,p.Thr178Ala,ENST00000217173,;UBOX5,missense_variant,p.Thr178Ala,ENST00000348031,;UBOX5,downstream_gene_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;	1004	103	93	SUCCESS
LZTS3	9762	.	GRCh37	20	3145661	3145663	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	75	0	ENST00000329152.3:c.1459_1461del	p.Lys487del	p.K487del	ENST00000329152	NM_014731.2	487	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	.	1459-1461	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCTCCTTCTCCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19354:SF6,hmmpanther:PTHR19354,Pfam_domain:PF06818	.	.	ENSP00000332123	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	deletion	LZTS3,inframe_deletion,p.Lys487del,ENST00000329152,;LZTS3,inframe_deletion,p.Lys441del,ENST00000360342,;LZTS3,inframe_deletion,p.Lys441del,ENST00000337576,;UBOX5,upstream_gene_variant,,ENST00000217173,;UBOX5,upstream_gene_variant,,ENST00000348031,;	2857-2859	75	50	SUCCESS
CBFA2T2	9139	.	GRCh37	20	32224505	32224505	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs753907066	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	42	72	0	ENST00000346541.3:c.1321del	p.Thr441GlnfsTer5	p.T441Qfs*5	ENST00000346541	NM_005093.3	439	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS13221.1	1315	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTGGAAAAAA	NONE	.	.	hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13	.	.	ENSP00000262653	.	10/12	.	.	.	.	.	.	.	.	rs753907066	10/12	PASS	ENST00000346541	Transcript	.	.	ENSG00000078699	1536	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTG8R_HUMAN	CBFA2T2	HGNC	Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN	.	UPI0000073E07	deletion	CBFA2T2,frameshift_variant,p.Thr441GlnfsTer5,ENST00000375279,;CBFA2T2,frameshift_variant,p.Thr441GlnfsTer5,ENST00000346541,;CBFA2T2,frameshift_variant,p.Thr432GlnfsTer5,ENST00000342704,;CBFA2T2,frameshift_variant,p.Thr412GlnfsTer5,ENST00000492345,;CBFA2T2,frameshift_variant,p.Thr412GlnfsTer5,ENST00000397800,;CBFA2T2,frameshift_variant,p.Thr451GlnfsTer5,ENST00000359606,;CBFA2T2,upstream_gene_variant,,ENST00000543126,;CBFA2T2,downstream_gene_variant,,ENST00000491618,;	1852	72	128	SUCCESS
ITCH	83737	.	GRCh37	20	33049955	33049955	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	6	120	0	ENST00000262650.6:c.1476A>T	p.Gly492=	p.G492=	ENST00000262650		492	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS58768.1	1476	MUTECT|MUSE	.	GATGGAATTCC	NONE	.	.	Superfamily_domains:SSF51045,PIRSF_domain:PIRSF001569,SMART_domains:SM00456,Pfam_domain:PF00397,Gene3D:2.20.70.10,PROSITE_patterns:PS01159,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66,PROSITE_profiles:PS50020	.	.	ENSP00000262650	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000262650	Transcript	1	.	ENSG00000078747	13890	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITCH_HUMAN	ITCH	HGNC	.	.	UPI00000731C2	SNV	ITCH,synonymous_variant,p.%3D,ENST00000374864,;ITCH,synonymous_variant,p.%3D,ENST00000535650,;ITCH,synonymous_variant,p.%3D,ENST00000262650,;MIR644A,upstream_gene_variant,,ENST00000385262,;ITCH,non_coding_transcript_exon_variant,,ENST00000483727,;	1612	120	118	SUCCESS
NCOA6	23054	.	GRCh37	20	33330165	33330165	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	60	176	1	ENST00000359003.2:c.3895A>G	p.Thr1299Ala	p.T1299A	ENST00000359003	NM_014071.3	1299	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13241.1	3895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGTAGCAA	NONE	.	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,missense_variant,p.Thr1299Ala,ENST00000374796,;NCOA6,missense_variant,p.Thr1299Ala,ENST00000359003,;	6466	178	169	SUCCESS
MYH7B	57644	.	GRCh37	20	33588879	33588879	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747498123	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	89	181	0	ENST00000262873.7:c.5519G>A	p.Arg1840His	p.R1840H	ENST00000262873	NM_020884.3	1840	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS42869.1	5519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCGCGAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Pfam_domain:PF01576	.	.	ENSP00000262873	.	39/43	.	.	.	.	.	.	.	.	rs747498123	39/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.747)	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,missense_variant,p.Arg1840His,ENST00000262873,;TRPC4AP,downstream_gene_variant,,ENST00000451813,;MYH7B,upstream_gene_variant,,ENST00000446156,;MYH7B,upstream_gene_variant,,ENST00000433934,;MYH7B,upstream_gene_variant,,ENST00000435272,;TRPC4AP,downstream_gene_variant,,ENST00000539834,;MYH7B,upstream_gene_variant,,ENST00000453028,;TRPC4AP,downstream_gene_variant,,ENST00000252015,;TRPC4AP,downstream_gene_variant,,ENST00000432634,;MYH7B,upstream_gene_variant,,ENST00000456649,;	5611	181	216	SUCCESS
EDEM2	55741	.	GRCh37	20	33719574	33719574	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763413780	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	104	0	ENST00000374492.3:c.715A>G	p.Ile239Val	p.I239V	ENST00000374492	NM_018217.2	239	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13247.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAATGTGGT	NONE	byFrequency	.	Superfamily_domains:SSF48225,Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26	.	.	ENSP00000363616	.	7/11	.	.	.	.	.	.	.	.	rs763413780	7/11	PASS	ENST00000374492	Transcript	.	.	ENSG00000088298	15877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.18)	.	EDEM2_HUMAN	EDEM2	HGNC	B4E1F4_HUMAN	.	UPI00001285D9	SNV	EDEM2,missense_variant,p.Ile198Val,ENST00000540582,;EDEM2,missense_variant,p.Ile202Val,ENST00000374491,;EDEM2,missense_variant,p.Ile239Val,ENST00000374492,;EDEM2,missense_variant,p.Ile18Val,ENST00000541621,;EDEM2,5_prime_UTR_variant,,ENST00000542871,;	821	104	94	SUCCESS
CEP250	11190	.	GRCh37	20	34090970	34090970	+	synonymous_variant	Silent	SNP	C	C	T	rs562343473	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	49	116	0	ENST00000397527.1:c.4773C>T	p.Thr1591=	p.T1591=	ENST00000397527	NM_007186.3	1591	acC/acT	0	.	T:0	.	T:0.0014	.	T	T	protein_coding	YES	CCDS13255.1	4773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCCACCT	NONE	by1000G	.	hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	T:0	.	ENSP00000380661	T:0	30/35	.	.	.	.	.	.	.	.	rs562343473	30/35	PASS	ENST00000397527	Transcript	.	T:0.0002	ENSG00000126001	1859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,synonymous_variant,p.%3D,ENST00000422671,;CEP250,synonymous_variant,p.%3D,ENST00000342580,;CEP250,synonymous_variant,p.%3D,ENST00000397527,;CEP250,downstream_gene_variant,,ENST00000425525,;	5493	116	123	SUCCESS
CNBD2	140894	.	GRCh37	20	34618504	34618504	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	64	271	0	ENST00000373973.3:c.1670del	p.Pro557HisfsTer2	p.P557Hfs*2	ENST00000373973		555	ctC/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS13270.1	1653	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACCTCCCCCC	NONE	.	.	.	.	.	ENSP00000340954	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000349339	Transcript	.	.	ENSG00000149646	16145	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNBD2_HUMAN	CNBD2	HGNC	.	.	UPI0000367038	deletion	CNBD2,frameshift_variant,p.Pro557HisfsTer2,ENST00000373973,;CNBD2,frameshift_variant,p.Pro553HisfsTer2,ENST00000349339,;CNBD2,3_prime_UTR_variant,,ENST00000538900,;CNBD2,3_prime_UTR_variant,,ENST00000463258,;	1809	271	273	SUCCESS
ATRN	8455	.	GRCh37	20	3556555	3556555	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	61	0	ENST00000262919.5:c.2174A>C	p.Asp725Ala	p.D725A	ENST00000262919	NM_139321.2	725	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS13053.1	2174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGACCATT	NONE	.	.	hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574,SMART_domains:SM00423	.	.	ENSP00000262919	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000262919	Transcript	.	.	ENSG00000088812	885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0.03)	.	ATRN_HUMAN	ATRN	HGNC	.	.	UPI000012661C	SNV	ATRN,missense_variant,p.Asp725Ala,ENST00000446916,;ATRN,missense_variant,p.Asp725Ala,ENST00000262919,;	2242	61	60	SUCCESS
ATRN	8455	.	GRCh37	20	3575207	3575207	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	133	0	ENST00000262919.5:c.3404A>G	p.Asp1135Gly	p.D1135G	ENST00000262919	NM_139321.2	1135	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13053.1	3404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGACGAGT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574,Gene3D:2.10.25.10,SMART_domains:SM00180	.	.	ENSP00000262919	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000262919	Transcript	.	.	ENSG00000088812	885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	ATRN_HUMAN	ATRN	HGNC	.	.	UPI000012661C	SNV	ATRN,missense_variant,p.Asp1135Gly,ENST00000446916,;ATRN,missense_variant,p.Asp1135Gly,ENST00000262919,;	3472	133	135	SUCCESS
RPN2	6185	.	GRCh37	20	35860726	35860726	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1426793158	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	73	0	ENST00000237530.6:c.1614del	p.Thr539ProfsTer10	p.T539Pfs*10	ENST00000237530	NM_002951.3	537	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS13291.1	1609	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGAGGCCCCCC	NONE	.	.	hmmpanther:PTHR12640:SF0,hmmpanther:PTHR12640,Pfam_domain:PF05817	.	.	ENSP00000237530	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000237530	Transcript	.	.	ENSG00000118705	10382	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPN2_HUMAN	RPN2	HGNC	.	.	UPI0000000C52	deletion	RPN2,frameshift_variant,p.Thr539ProfsTer10,ENST00000237530,;RPN2,frameshift_variant,p.Thr507ProfsTer10,ENST00000373622,;RPN2,frameshift_variant,p.Thr64ProfsTer10,ENST00000456400,;RPN2,intron_variant,,ENST00000437329,;RPN2,intron_variant,,ENST00000470352,;	1920	73	101	SUCCESS
RALGAPB	57148	.	GRCh37	20	37182643	37182643	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138852733	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	42	164	0	ENST00000262879.6:c.3296C>T	p.Pro1099Leu	p.P1099L	ENST00000262879		1099	cCg/cTg	0	A:0.0002	.	.	.	.	T	P/L	protein_coding	YES	CCDS13305.1	3296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCGCCTC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21344,Superfamily_domains:0043732	.	A:0	ENSP00000262879	.	22/30	.	.	.	.	.	.	.	.	rs138852733	22/30	PASS	ENST00000262879	Transcript	.	.	ENSG00000170471	29221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious(0.03)	.	RLGPB_HUMAN	RALGAPB	HGNC	Q6MZJ2_HUMAN	.	UPI000000DBFD	SNV	RALGAPB,missense_variant,p.Pro877Leu,ENST00000397038,;RALGAPB,missense_variant,p.Pro1099Leu,ENST00000397040,;RALGAPB,missense_variant,p.Pro1095Leu,ENST00000397042,;RALGAPB,missense_variant,p.Pro1099Leu,ENST00000262879,;RALGAPB,missense_variant,p.Pro927Leu,ENST00000438490,;	3580	164	190	SUCCESS
PPP1R16B	26051	.	GRCh37	20	37536807	37536807	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	114	349	0	ENST00000299824.1:c.1165A>T	p.Thr389Ser	p.T389S	ENST00000299824	NM_015568.2	389	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS13309.1	1165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGACCAGG	NONE	.	.	hmmpanther:PTHR24186,PIRSF_domain:PIRSF038159	.	.	ENSP00000299824	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000299824	Transcript	.	.	ENSG00000101445	15850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.76)	.	PP16B_HUMAN	PPP1R16B	HGNC	.	.	UPI0000132059	SNV	PPP1R16B,missense_variant,p.Thr389Ser,ENST00000299824,;PPP1R16B,missense_variant,p.Thr347Ser,ENST00000373331,;	1354	349	307	SUCCESS
SPINT3	10816	.	GRCh37	20	44141453	44141453	+	synonymous_variant	Silent	SNP	G	G	A	rs950573306	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	77	0	ENST00000217428.6:c.108C>T	p.Cys36=	p.C36=	ENST00000217428	NM_006652.1	36	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46608.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGCATAC	NONE	.	.	PROSITE_profiles:PS50279,hmmpanther:PTHR10083,Gene3D:4.10.410.10,Pfam_domain:PF00014,SMART_domains:SM00131,Superfamily_domains:SSF57362,Prints_domain:PR00759	.	.	ENSP00000217428	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000217428	Transcript	.	.	ENSG00000101446	11248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIT3_HUMAN	SPINT3	HGNC	.	.	UPI0000E5A336	SNV	SPINT3,synonymous_variant,p.%3D,ENST00000217428,;	124	77	53	SUCCESS
SNX21	90203	.	GRCh37	20	44469566	44469566	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs563427177	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	36	78	0	ENST00000491381.1:c.736C>T	p.Arg246Trp	p.R246W	ENST00000491381		246	Cgg/Tgg	0	.	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS13377.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGCGGGCA	NONE	by1000G	.	PROSITE_profiles:PS50195,hmmpanther:PTHR20939,hmmpanther:PTHR20939:SF10,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	T:0.001	.	ENSP00000418593	T:0	4/4	.	.	.	.	.	.	.	.	rs563427177	4/4	PASS	ENST00000491381	Transcript	.	T:0.0002	ENSG00000124104	16154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	T:0	deleterious(0.01)	.	SNX21_HUMAN	SNX21	HGNC	Q8WY78_HUMAN,Q5JZH3_HUMAN	.	UPI0000135B51	SNV	SNX21,missense_variant,p.Arg246Trp,ENST00000491381,;SNX21,missense_variant,p.Arg237Trp,ENST00000372542,;SNX21,3_prime_UTR_variant,,ENST00000462307,;SNX21,intron_variant,,ENST00000342644,;ACOT8,downstream_gene_variant,,ENST00000217455,;ACOT8,downstream_gene_variant,,ENST00000487205,;SNX21,downstream_gene_variant,,ENST00000372541,;SNX21,non_coding_transcript_exon_variant,,ENST00000465997,;SNX21,non_coding_transcript_exon_variant,,ENST00000472219,;SNX21,non_coding_transcript_exon_variant,,ENST00000344780,;SNX21,non_coding_transcript_exon_variant,,ENST00000478230,;SNX21,non_coding_transcript_exon_variant,,ENST00000486336,;SNX21,non_coding_transcript_exon_variant,,ENST00000372547,;ACOT8,downstream_gene_variant,,ENST00000484783,;ACOT8,downstream_gene_variant,,ENST00000483141,;ACOT8,downstream_gene_variant,,ENST00000493118,;ACOT8,downstream_gene_variant,,ENST00000486165,;ACOT8,downstream_gene_variant,,ENST00000484975,;ACOT8,downstream_gene_variant,,ENST00000488679,;ACOT8,downstream_gene_variant,,ENST00000461272,;	804	78	68	SUCCESS
ZNF335	63925	.	GRCh37	20	44596429	44596429	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765861359	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	54	0	ENST00000322927.2:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000322927	NM_022095.3	253	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13389.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGGTAC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13909,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403,PROSITE_profiles:PS50157	.	.	ENSP00000325326	.	5/28	.	.	.	.	.	.	.	.	rs765861359,COSM1412126	5/28	PASS	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.703)	.	deleterious(0)	0,1	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,missense_variant,p.Arg253Gln,ENST00000322927,;ZNF335,missense_variant,p.Arg98Gln,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000476822,;ZNF335,non_coding_transcript_exon_variant,,ENST00000494955,;ZNF335,upstream_gene_variant,,ENST00000475002,;	859	54	52	SUCCESS
CD40	958	.	GRCh37	20	44750964	44750964	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	37	111	0	ENST00000372285.3:c.223A>G	p.Thr75Ala	p.T75A	ENST00000372285	NM_001250.4	75	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS13393.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGACACAC	NONE	.	.	PROSITE_profiles:PS50050,hmmpanther:PTHR23097:SF103,hmmpanther:PTHR23097,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586	.	.	ENSP00000361359	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000372285	Transcript	1	.	ENSG00000101017	11919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.14)	.	TNR5_HUMAN	CD40	HGNC	Q09LL4_HUMAN	.	UPI00000336A0	SNV	CD40,missense_variant,p.Thr75Ala,ENST00000372285,;CD40,missense_variant,p.Thr75Ala,ENST00000372276,;CD40,non_coding_transcript_exon_variant,,ENST00000477696,;CD40,non_coding_transcript_exon_variant,,ENST00000461171,;CD40,non_coding_transcript_exon_variant,,ENST00000489304,;CD40,missense_variant,p.Thr74Ala,ENST00000466205,;	295	111	94	SUCCESS
SLC13A3	64849	.	GRCh37	20	45242522	45242522	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	19	0	ENST00000279027.4:c.112-158G>A		p.*38*	ENST00000279027	NM_001193342.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13400.1	.	MUTECT|MUSE	.	GGCAGCAGTGG	NONE	.	.	.	.	.	ENSP00000279027	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000279027	Transcript	.	.	ENSG00000158296	14430	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S13A3_HUMAN	SLC13A3	HGNC	F6WI18_HUMAN,C9J7L4_HUMAN	.	UPI000013542F	SNV	SLC13A3,5_prime_UTR_variant,,ENST00000495082,;SLC13A3,intron_variant,,ENST00000472148,;SLC13A3,intron_variant,,ENST00000468915,;SLC13A3,intron_variant,,ENST00000417157,;SLC13A3,intron_variant,,ENST00000339636,;SLC13A3,intron_variant,,ENST00000372121,;SLC13A3,intron_variant,,ENST00000413164,;SLC13A3,intron_variant,,ENST00000279027,;SLC13A3,intron_variant,,ENST00000396360,;SLC13A3,intron_variant,,ENST00000435032,;SLC13A3,intron_variant,,ENST00000290317,;SLC13A3,upstream_gene_variant,,ENST00000420568,;	.	19	25	SUCCESS
SULF2	55959	.	GRCh37	20	46307534	46307534	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	32	0	ENST00000359930.4:c.1079T>C	p.Val360Ala	p.V360A	ENST00000359930	NM_018837.3	360	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS13408.1	1079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGACGATG	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	.	.	ENSP00000353007	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000359930	Transcript	.	.	ENSG00000196562	20392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0.03)	.	SULF2_HUMAN	SULF2	HGNC	Q5BKT1_HUMAN,B1AMP9_HUMAN	.	UPI000003FFBA	SNV	SULF2,missense_variant,p.Val360Ala,ENST00000359930,;SULF2,missense_variant,p.Val360Ala,ENST00000361612,;SULF2,missense_variant,p.Val360Ala,ENST00000467815,;SULF2,missense_variant,p.Val360Ala,ENST00000484875,;CTD-2653D5.1,intron_variant,,ENST00000526566,;SULF2,upstream_gene_variant,,ENST00000465769,;	1931	32	51	SUCCESS
PTGIS	5740	.	GRCh37	20	48156217	48156217	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754311420	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	38	0	ENST00000244043.4:c.563G>A	p.Arg188His	p.R188H	ENST00000244043	NM_000961.3	188	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS13419.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCGTGGC	NONE	.	.	hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,Gene3D:1.10.630.10,Pfam_domain:PF00067,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500628,Superfamily_domains:SSF48264	.	.	ENSP00000244043	.	5/10	.	.	.	.	.	.	.	.	rs754311420,COSM1027883	5/10	PASS	ENST00000244043	Transcript	.	.	ENSG00000124212	9603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.007)	.	tolerated(0.28)	0,1	PTGIS_HUMAN	PTGIS	HGNC	Q6LEN0_HUMAN	.	UPI00001328DF	SNV	PTGIS,missense_variant,p.Arg188His,ENST00000244043,;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;	593	38	47	SUCCESS
KCNG1	3755	.	GRCh37	20	49626762	49626762	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	38	0	ENST00000371571.4:c.114G>A	p.Ala38=	p.A38=	ENST00000371571	NM_002237.3	38	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13436.1	114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAACGCGCC	NONE	.	.	.	.	.	ENSP00000360626	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000371571	Transcript	.	.	ENSG00000026559	6248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNG1_HUMAN	KCNG1	HGNC	Q5JXL4_HUMAN,A2A2I9_HUMAN,A2A2I8_HUMAN	.	UPI000012DC99	SNV	KCNG1,synonymous_variant,p.%3D,ENST00000424171,;KCNG1,synonymous_variant,p.%3D,ENST00000433903,;KCNG1,synonymous_variant,p.%3D,ENST00000439216,;KCNG1,synonymous_variant,p.%3D,ENST00000396017,;KCNG1,synonymous_variant,p.%3D,ENST00000371571,;KCNG1,synonymous_variant,p.%3D,ENST00000447736,;RP5-955M13.4,downstream_gene_variant,,ENST00000424566,;KCNG1,upstream_gene_variant,,ENST00000506387,;	400	38	27	SUCCESS
SALL4	57167	.	GRCh37	20	50408386	50408386	+	synonymous_variant	Silent	SNP	C	C	T	rs750424449	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	39	0	ENST00000217086.4:c.636G>A	p.Pro212=	p.P212=	ENST00000217086	NM_020436.3	212	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13438.1	636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACGGGAT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	.	.	ENSP00000217086	.	2/4	.	.	.	.	.	.	.	.	rs750424449	2/4	PASS	ENST00000217086	Transcript	1	.	ENSG00000101115	15924	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL4_HUMAN	SALL4	HGNC	.	.	UPI0000135527	SNV	SALL4,synonymous_variant,p.%3D,ENST00000217086,;SALL4,synonymous_variant,p.%3D,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000481363,;SALL4,downstream_gene_variant,,ENST00000483130,;	748	39	48	SUCCESS
SALL4	57167	.	GRCh37	20	50408677	50408678	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	277	91	261	0	ENST00000217086.4:c.344dup	p.Ser116LeufsTer15	p.S116Lfs*15	ENST00000217086	NM_020436.3	115	ttc/ttTc	0	.	.	.	.	.	A	F/FX	protein_coding	YES	CCDS13438.1	344-345	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGGAGAAGTC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	.	.	ENSP00000217086	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000217086	Transcript	1	.	ENSG00000101115	15924	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SALL4_HUMAN	SALL4	HGNC	.	.	UPI0000135527	insertion	SALL4,frameshift_variant,p.Ser116LeufsTer15,ENST00000217086,;SALL4,frameshift_variant,p.Ser116LeufsTer15,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,non_coding_transcript_exon_variant,,ENST00000481363,;SALL4,non_coding_transcript_exon_variant,,ENST00000483130,;	456-457	261	368	SUCCESS
ZNF217	7764	.	GRCh37	20	52192757	52192757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	82	0	ENST00000302342.3:c.2546C>T	p.Pro849Leu	p.P849L	ENST00000302342	NM_006526.2	849	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13443.1	2546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGGGGAA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6	.	.	ENSP00000360526	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000371471	Transcript	.	.	ENSG00000171940	13009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.08)	.	ZN217_HUMAN	ZNF217	HGNC	A2A326_HUMAN	.	UPI000013C323	SNV	ZNF217,missense_variant,p.Pro849Leu,ENST00000302342,;ZNF217,missense_variant,p.Pro849Leu,ENST00000371471,;ZNF217,upstream_gene_variant,,ENST00000437222,;RP4-724E16.2,downstream_gene_variant,,ENST00000424252,;	2972	82	59	SUCCESS
ZNF217	7764	.	GRCh37	20	52198883	52198883	+	synonymous_variant	Silent	SNP	G	G	A	rs1445054076	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	90	0	ENST00000302342.3:c.483C>T	p.Cys161=	p.C161=	ENST00000302342	NM_006526.2	161	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS13443.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000360526	.	2/6	.	.	.	.	.	.	.	.	COSM1412565,COSM1412566	2/6	PASS	ENST00000371471	Transcript	.	.	ENSG00000171940	13009	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ZN217_HUMAN	ZNF217	HGNC	A2A326_HUMAN	.	UPI000013C323	SNV	ZNF217,synonymous_variant,p.%3D,ENST00000302342,;ZNF217,synonymous_variant,p.%3D,ENST00000371471,;ZNF217,downstream_gene_variant,,ENST00000431687,;ZNF217,downstream_gene_variant,,ENST00000540425,;	909	90	75	SUCCESS
CSTF1	1477	.	GRCh37	20	54978541	54978541	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1407318272	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	93	0	ENST00000217109.4:c.1054C>T	p.Arg352Cys	p.R352C	ENST00000217109	NM_001324.2	352	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13452.1	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACGCCAG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000217109	.	6/6	.	.	.	.	.	.	.	.	COSM239469	6/6	PASS	ENST00000217109	Transcript	.	.	ENSG00000101138	2483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.249)	.	deleterious(0.01)	1	CSTF1_HUMAN	CSTF1	HGNC	A3KFI9_HUMAN	.	UPI0000000C1E	SNV	CSTF1,missense_variant,p.Arg352Cys,ENST00000217109,;CSTF1,downstream_gene_variant,,ENST00000452950,;CSTF1,downstream_gene_variant,,ENST00000415828,;CSTF1,non_coding_transcript_exon_variant,,ENST00000493039,;CSTF1,downstream_gene_variant,,ENST00000490539,;	1406	93	92	SUCCESS
STX16	8675	.	GRCh37	20	57226942	57226942	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	13	0	ENST00000371141.4:c.-121A>T		p.*41*	ENST00000371141	NM_001001433.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13468.1	.	RADIA|MUTECT	.	GCCTGAGGCCT	NONE	.	.	.	.	.	ENSP00000360183	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,5_prime_UTR_variant,,ENST00000355957,;STX16,5_prime_UTR_variant,,ENST00000371132,;STX16,5_prime_UTR_variant,,ENST00000371141,;STX16,5_prime_UTR_variant,,ENST00000358029,;STX16,5_prime_UTR_variant,,ENST00000361770,;STX16,intron_variant,,ENST00000412911,;STX16,intron_variant,,ENST00000312283,;STX16,intron_variant,,ENST00000359617,;STX16,intron_variant,,ENST00000458280,;STX16,upstream_gene_variant,,ENST00000361830,;STX16,non_coding_transcript_exon_variant,,ENST00000496003,;STX16,intron_variant,,ENST00000490700,;STX16,intron_variant,,ENST00000496117,;STX16,upstream_gene_variant,,ENST00000468590,;STX16,5_prime_UTR_variant,,ENST00000467096,;STX16-NPEPL1,5_prime_UTR_variant,,ENST00000530122,;STX16,intron_variant,,ENST00000460655,;STX16,intron_variant,,ENST00000483434,;STX16,intron_variant,,ENST00000476384,;STX16,upstream_gene_variant,,ENST00000464640,;STX16,upstream_gene_variant,,ENST00000493301,;	604	13	11	SUCCESS
STX16	8675	.	GRCh37	20	57242608	57242608	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	63	111	0	ENST00000371141.4:c.207T>C	p.Gly69=	p.G69=	ENST00000371141	NM_001001433.2	69	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS13468.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGTGTGAC	NONE	.	.	hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957	.	.	ENSP00000360183	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,synonymous_variant,p.%3D,ENST00000355957,;STX16,synonymous_variant,p.%3D,ENST00000371132,;STX16,synonymous_variant,p.%3D,ENST00000371141,;STX16,synonymous_variant,p.%3D,ENST00000358029,;STX16,synonymous_variant,p.%3D,ENST00000438253,;STX16,synonymous_variant,p.%3D,ENST00000412911,;STX16,synonymous_variant,p.%3D,ENST00000312283,;STX16,synonymous_variant,p.%3D,ENST00000359617,;STX16,synonymous_variant,p.%3D,ENST00000361830,;STX16,synonymous_variant,p.%3D,ENST00000361770,;STX16,synonymous_variant,p.%3D,ENST00000458280,;STX16,non_coding_transcript_exon_variant,,ENST00000496003,;STX16,non_coding_transcript_exon_variant,,ENST00000496117,;STX16,non_coding_transcript_exon_variant,,ENST00000468590,;STX16,intron_variant,,ENST00000490700,;STX16,synonymous_variant,p.%3D,ENST00000460655,;STX16,synonymous_variant,p.%3D,ENST00000467096,;STX16,synonymous_variant,p.%3D,ENST00000464640,;STX16,synonymous_variant,p.%3D,ENST00000493301,;STX16-NPEPL1,synonymous_variant,p.%3D,ENST00000530122,;STX16,synonymous_variant,p.%3D,ENST00000483434,;STX16,synonymous_variant,p.%3D,ENST00000476384,;	931	111	132	SUCCESS
OSBPL2	9885	.	GRCh37	20	60838714	60838714	+	synonymous_variant	Silent	SNP	C	C	T	rs146206209	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	60	0	ENST00000313733.3:c.225C>T	p.Ser75=	p.S75=	ENST00000313733	NM_144498.2	75	agC/agT	0	T:0.0009	T:0.0015	.	T:0	.	T	S	protein_coding	YES	CCDS13495.1	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCGTGTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10972:SF54,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579	T:0	T:0.0003	ENSP00000316649	T:0.001	4/14	.	.	.	.	.	.	.	.	rs146206209	4/14	PASS	ENST00000313733	Transcript	1	T:0.0008	ENSG00000130703	15761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	OSBL2_HUMAN	OSBPL2	HGNC	H0Y7X4_HUMAN	.	UPI0000130E96	SNV	OSBPL2,synonymous_variant,p.%3D,ENST00000358053,;OSBPL2,synonymous_variant,p.%3D,ENST00000313733,;OSBPL2,5_prime_UTR_variant,,ENST00000439951,;	427	60	71	SUCCESS
LAMA5	3911	.	GRCh37	20	60885264	60885264	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs776195092	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	18	74	0	ENST00000252999.3:c.10704del	p.Tyr3569ThrfsTer6	p.Y3569Tfs*6	ENST00000252999	NM_005560.4	3568	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS33502.1	10704	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGTAGGGGGG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000252999	.	77/80	.	.	.	.	.	.	.	.	rs776195092	77/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	deletion	LAMA5,frameshift_variant,p.Tyr3569ThrfsTer6,ENST00000252999,;ADRM1,downstream_gene_variant,,ENST00000253003,;RP11-157P1.4,upstream_gene_variant,,ENST00000414042,;ADRM1,downstream_gene_variant,,ENST00000465805,;LAMA5,upstream_gene_variant,,ENST00000492698,;ADRM1,downstream_gene_variant,,ENST00000462554,;LAMA5,3_prime_UTR_variant,,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000491036,;LAMA5,downstream_gene_variant,,ENST00000468786,;LAMA5,downstream_gene_variant,,ENST00000471042,;	10771	74	96	SUCCESS
LAMA5	3911	.	GRCh37	20	60887270	60887270	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	66	214	0	ENST00000252999.3:c.9463A>C	p.Ser3155Arg	p.S3155R	ENST00000252999	NM_005560.4	3155	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS33502.1	9463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCTGTGGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000252999	.	69/80	.	.	.	.	.	.	.	.	.	69/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Ser3155Arg,ENST00000252999,;ADRM1,downstream_gene_variant,,ENST00000253003,;LAMA5,upstream_gene_variant,,ENST00000492698,;LAMA5,missense_variant,p.Ser320Arg,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000468786,;LAMA5,downstream_gene_variant,,ENST00000471042,;	9530	214	162	SUCCESS
DIDO1	11083	.	GRCh37	20	61527589	61527589	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	43	110	0	ENST00000266070.4:c.2210A>T	p.Asn737Ile	p.N737I	ENST00000266070	NM_033081.2	737	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS33506.1	2210	RADIA|MUTECT|MUSE	.	CCTGATTTTTA	NONE	.	.	PROSITE_profiles:PS51321,hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914,Pfam_domain:PF07500,Gene3D:1enwA00,SMART_domains:SM00510,Superfamily_domains:0037100	.	.	ENSP00000266070	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Asn737Ile,ENST00000266070,;DIDO1,missense_variant,p.Asn737Ile,ENST00000395335,;DIDO1,missense_variant,p.Asn737Ile,ENST00000395340,;DIDO1,missense_variant,p.Asn737Ile,ENST00000395343,;	2536	110	119	SUCCESS
SLC17A9	63910	.	GRCh37	20	61588143	61588143	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752324785	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	58	0	ENST00000370351.4:c.86C>T	p.Thr29Met	p.T29M	ENST00000370351	NM_022082.3	29	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS42901.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACGCTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	.	.	ENSP00000359376	.	2/13	.	.	.	.	.	.	.	.	rs752324785	2/13	PASS	ENST00000370351	Transcript	1	.	ENSG00000101194	16192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.79)	.	S17A9_HUMAN	SLC17A9	HGNC	.	.	UPI000014051D	SNV	SLC17A9,missense_variant,p.Thr29Met,ENST00000370351,;SLC17A9,missense_variant,p.Thr49Met,ENST00000411611,;SLC17A9,missense_variant,p.Thr23Met,ENST00000370349,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;	217	58	51	SUCCESS
YTHDF1	54915	.	GRCh37	20	61834090	61834090	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	36	86	0	ENST00000370339.3:c.1202A>G	p.Asp401Gly	p.D401G	ENST00000370339	NM_017798.3	401	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS13511.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGTCGTCC	NONE	.	.	Pfam_domain:PF04146,hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF20,PROSITE_profiles:PS50882	.	.	ENSP00000359364	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000370339	Transcript	.	.	ENSG00000149658	15867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	YTHD1_HUMAN	YTHDF1	HGNC	F8W840_HUMAN	.	UPI0000128DD9	SNV	YTHDF1,missense_variant,p.Asp401Gly,ENST00000370339,;YTHDF1,missense_variant,p.Asp351Gly,ENST00000370333,;YTHDF1,intron_variant,,ENST00000370334,;	1544	86	99	SUCCESS
HELZ2	85441	.	GRCh37	20	62198473	62198473	+	synonymous_variant	Silent	SNP	C	C	T	rs777659473	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	72	0	ENST00000467148.1:c.2238G>A	p.Thr746=	p.T746=	ENST00000467148	NM_001037335.2	746	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33508.1	2238	MUTECT|MUSE|VARSCANS	.	GCGTCCGTGCA	NONE	byFrequency	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Pfam_domain:PF13087,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000417401	.	6/19	.	.	.	.	.	.	.	.	rs777659473,COSM2932306	6/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,synonymous_variant,p.%3D,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	2308	72	46	SUCCESS
BMP2	650	.	GRCh37	20	6759209	6759209	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140884062	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	124	1	ENST00000378827.4:c.664G>A	p.Ala222Thr	p.A222T	ENST00000378827	NM_001200.2	222	Gcc/Acc	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS13099.1	664	MUTECT|MUSE	.	GACACGCCAAC	NONE	byCluster	.	hmmpanther:PTHR11848:SF143,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	A:0.0001	ENSP00000368104	.	3/3	.	.	.	.	.	.	.	.	rs140884062,COSM1413277	3/3	PASS	ENST00000378827	Transcript	1	.	ENSG00000125845	1069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.001)	.	tolerated(0.57)	0,1	BMP2_HUMAN	BMP2	HGNC	U3N491_HUMAN,C8C069_HUMAN,C8C060_HUMAN	.	UPI0000126A21	SNV	BMP2,missense_variant,p.Ala222Thr,ENST00000378827,;	1883	125	111	SUCCESS
URB1	9875	.	GRCh37	21	33687279	33687279	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	60	161	0	ENST00000382751.3:c.6766G>A	p.Ala2256Thr	p.A2256T	ENST00000382751	NM_014825.2	2256	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46645.1	6766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCCTCCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000372199	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000382751	Transcript	.	.	ENSG00000142207	17344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated(0.31)	.	NPA1P_HUMAN	URB1	HGNC	.	.	UPI0000185F65	SNV	URB1,missense_variant,p.Ala2256Thr,ENST00000382751,;MRAP,downstream_gene_variant,,ENST00000399784,;MRAP,downstream_gene_variant,,ENST00000303645,;MRAP,downstream_gene_variant,,ENST00000339944,;MRAP,downstream_gene_variant,,ENST00000399786,;MRAP,downstream_gene_variant,,ENST00000497833,;	6882	161	146	SUCCESS
TCP10L	140290	.	GRCh37	21	33951121	33951121	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	75	225	0	ENST00000300258.3:c.381A>T	p.Gly127=	p.G127=	ENST00000300258	NM_144659.5	127	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13616.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTTCCAAA	NONE	.	.	hmmpanther:PTHR10331	.	.	ENSP00000300258	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000300258	Transcript	.	.	ENSG00000242220	11657	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCP1L_HUMAN	TCP10L	HGNC	.	.	UPI0000136B0B	SNV	TCP10L,synonymous_variant,p.%3D,ENST00000582575,;TCP10L,synonymous_variant,p.%3D,ENST00000472557,;TCP10L,synonymous_variant,p.%3D,ENST00000300258,;AP000275.65,downstream_gene_variant,,ENST00000553001,;AP000275.65,downstream_gene_variant,,ENST00000431216,;LINC00846,upstream_gene_variant,,ENST00000334165,;TCP10L,synonymous_variant,p.%3D,ENST00000491828,;	495	225	208	SUCCESS
SON	6651	.	GRCh37	21	34932574	34932574	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	36	0	ENST00000356577.4:c.6657+493T>C		p.*2219*	ENST00000356577	NM_138927.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13629.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTACTGT	NONE	.	.	.	.	.	ENSP00000348984	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356577	Transcript	.	.	ENSG00000159140	11183	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SON_HUMAN	SON	HGNC	.	.	UPI0000140BFD	SNV	SON,3_prime_UTR_variant,,ENST00000300278,;SON,intron_variant,,ENST00000421541,;SON,intron_variant,,ENST00000381692,;SON,intron_variant,,ENST00000436227,;SON,intron_variant,,ENST00000290239,;SON,intron_variant,,ENST00000356577,;SON,downstream_gene_variant,,ENST00000381679,;DONSON,intron_variant,,ENST00000439593,;SON,intron_variant,,ENST00000455528,;	.	36	35	SUCCESS
DOPEY2	0	.	GRCh37	21	37600040	37600040	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	73	0	ENST00000399151.3:c.1530G>A	p.Val510=	p.V510=	ENST00000399151	NM_005128.2	510	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13643.1	1530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGCAGCC	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	13/37	.	.	.	.	.	.	.	.	.	13/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;	1615	73	48	SUCCESS
DOPEY2	0	.	GRCh37	21	37603120	37603120	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	60	123	0	ENST00000399151.3:c.2038A>G	p.Asn680Asp	p.N680D	ENST00000399151	NM_005128.2	680	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS13643.1	2038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAACTCT	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	14/37	.	.	.	.	.	.	.	.	.	14/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.29)	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,missense_variant,p.Asn680Asp,ENST00000399151,;	2123	123	127	SUCCESS
SIM2	6493	.	GRCh37	21	38115770	38115770	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs745663760	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	83	219	0	ENST00000290399.6:c.1081T>C	p.Ser361Pro	p.S361P	ENST00000290399	NM_005069.3	361	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS13646.1	1081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTCTACC	BUFFER|p.T358T|c.1074C>T|3	.	.	PROSITE_profiles:PS51302,hmmpanther:PTHR23043:SF19,hmmpanther:PTHR23043,Pfam_domain:PF06621	.	.	ENSP00000290399	.	9/11	.	.	.	.	.	.	.	.	rs745663760	9/11	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.51)	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,missense_variant,p.Ser299Pro,ENST00000431229,;SIM2,missense_variant,p.Ser361Pro,ENST00000430056,;SIM2,missense_variant,p.Ser361Pro,ENST00000290399,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	1694	219	219	SUCCESS
DYRK1A	1859	.	GRCh37	21	38852951	38852951	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs1555980192	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	69	217	0	ENST00000398960.2:c.344del	p.Lys115ArgfsTer35	p.K115Rfs*35	ENST00000398960	NM_001396.3	113	gcA/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS42925.1	339	INDELOCATOR*|VARSCANI*|PINDEL	.	CTATGCAAAAAA	NONE	.	.	hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058	.	.	ENSP00000381932	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	deletion	DYRK1A,frameshift_variant,p.Lys115ArgfsTer35,ENST00000451934,;DYRK1A,frameshift_variant,p.Lys106ArgfsTer35,ENST00000339659,;DYRK1A,frameshift_variant,p.Lys115ArgfsTer35,ENST00000398956,;DYRK1A,frameshift_variant,p.Lys115ArgfsTer35,ENST00000398960,;DYRK1A,frameshift_variant,p.Lys115ArgfsTer?,ENST00000426672,;DYRK1A,frameshift_variant,p.Lys115ArgfsTer35,ENST00000338785,;DYRK1A,frameshift_variant,p.Lys115ArgfsTer35,ENST00000321219,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000462274,;	414	217	290	SUCCESS
PSMG1	8624	.	GRCh37	21	40555335	40555335	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	37	0	ENST00000331573.3:c.-24T>C		p.*8*	ENST00000331573	NM_003720.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACACAACT	NONE	.	.	.	.	.	ENSP00000329915	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000331573	Transcript	.	.	ENSG00000183527	3043	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMG1_HUMAN	PSMG1	HGNC	.	.	UPI000012990A	SNV	PSMG1,5_prime_UTR_variant,,ENST00000380900,;PSMG1,5_prime_UTR_variant,,ENST00000331573,;BRWD1,downstream_gene_variant,,ENST00000333229,;AF129408.17,upstream_gene_variant,,ENST00000608767,;BRWD1,downstream_gene_variant,,ENST00000446924,;PSMG1,upstream_gene_variant,,ENST00000431628,;PSMG1,upstream_gene_variant,,ENST00000411828,;PSMG1,upstream_gene_variant,,ENST00000481921,;	443	37	34	SUCCESS
DSCAM	1826	.	GRCh37	21	41514614	41514615	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs1375541923	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	57	0	ENST00000400454.1:c.3276dup	p.Glu1093ArgfsTer47	p.E1093Rfs*47	ENST00000400454	NM_001271534.1	1092	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS42929.1	3276-3277	INDELOCATOR|VARSCANI	.	ATTTTCGGGGG	CODON|p.E1093fs*6|c.3276delC|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000383303	.	18/33	.	.	.	.	.	.	.	.	COSM1414139	18/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	insertion	DSCAM,frameshift_variant,p.Glu845ArgfsTer47,ENST00000404019,;DSCAM,frameshift_variant,p.Glu1093ArgfsTer47,ENST00000400454,;	3754-3755	57	57	SUCCESS
BACE2	25825	.	GRCh37	21	42540489	42540489	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs771098505	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	30	168	0	ENST00000330333.6:c.305del	p.Pro102ArgfsTer25	p.P102Rfs*25	ENST00000330333	NM_012105.4	100	aCc/ac	0	-:0.004	.	.	.	.	-	T/X	protein_coding	YES	CCDS13668.1	299	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGGGACCCCCC	NONE	byFrequency	.	hmmpanther:PTHR13683:SF262,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630,Prints_domain:PR00792	.	-:0.0067	ENSP00000332979	.	1/9	.	.	.	.	.	.	.	.	rs757774185,rs775381972,COSM1566058	1/9	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	.	.	0,0,1	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	deletion	BACE2,frameshift_variant,p.Pro102ArgfsTer25,ENST00000328735,;BACE2,frameshift_variant,p.Pro102ArgfsTer25,ENST00000347667,;BACE2,frameshift_variant,p.Pro102ArgfsTer25,ENST00000330333,;MIR3197,downstream_gene_variant,,ENST00000582241,;	762	168	164	SUCCESS
PRDM15	63977	.	GRCh37	21	43239978	43239978	+	synonymous_variant	Silent	SNP	G	G	A	rs530802758	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	35	1	ENST00000269844.3:c.3318C>T	p.His1106=	p.H1106=	ENST00000269844	NM_022115.3	1106	caC/caT	0	.	A:0	.	A:0	.	A	H	protein_coding	YES	CCDS13676.1	3318	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCGTGCAC	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF6,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0	.	ENSP00000269844	A:0	25/31	.	.	.	.	.	.	.	.	rs530802758	25/31	PASS	ENST00000269844	Transcript	.	A:0.0002	ENSG00000141956	13999	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,synonymous_variant,p.%3D,ENST00000269844,;PRDM15,synonymous_variant,p.%3D,ENST00000422911,;PRDM15,synonymous_variant,p.%3D,ENST00000398548,;PRDM15,synonymous_variant,p.%3D,ENST00000447207,;PRDM15,synonymous_variant,p.%3D,ENST00000538201,;PRDM15,non_coding_transcript_exon_variant,,ENST00000495217,;PRDM15,downstream_gene_variant,,ENST00000491486,;PRDM15,synonymous_variant,p.%3D,ENST00000433067,;PRDM15,synonymous_variant,p.%3D,ENST00000447016,;PRDM15,3_prime_UTR_variant,,ENST00000449395,;PRDM15,3_prime_UTR_variant,,ENST00000441787,;PRDM15,upstream_gene_variant,,ENST00000486812,;	3429	37	32	SUCCESS
COL18A1	80781	.	GRCh37	21	46910776	46910776	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	73	130	0	ENST00000359759.4:c.3303G>A	p.Arg1101=	p.R1101=	ENST00000359759		1101	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42972.1	2598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGGGGAGA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390,Pfam_domain:PF01391	.	.	ENSP00000347665	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	SNV	COL18A1,synonymous_variant,p.%3D,ENST00000359759,;COL18A1,synonymous_variant,p.%3D,ENST00000355480,;COL18A1,synonymous_variant,p.%3D,ENST00000342220,;COL18A1,synonymous_variant,p.%3D,ENST00000400337,;SLC19A1,downstream_gene_variant,,ENST00000417954,;COL18A1,upstream_gene_variant,,ENST00000459895,;	2640	130	151	SUCCESS
COL6A1	1291	.	GRCh37	21	47414118	47414119	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	221	78	242	0	ENST00000361866.3:c.1377dup	p.Val460ArgfsTer16	p.V460Rfs*16	ENST00000361866	NM_001848.2	458	ggc/ggCc	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS13727.1	1373-1374	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF507,hmmpanther:PTHR24023	.	.	ENSP00000355180	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000361866	Transcript	.	.	ENSG00000142156	2211	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO6A1_HUMAN	COL6A1	HGNC	Q05BT9_HUMAN	.	UPI000019B179	insertion	COL6A1,frameshift_variant,p.Val460ArgfsTer16,ENST00000361866,;	1487-1488	242	299	SUCCESS
COL6A1	1291	.	GRCh37	21	47422161	47422161	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1241461198	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	85	0	ENST00000361866.3:c.2096G>A	p.Gly699Asp	p.G699D	ENST00000361866	NM_001848.2	699	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS13727.1	2096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGCGGCA	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR24023:SF507,hmmpanther:PTHR24023,PROSITE_profiles:PS50234	.	.	ENSP00000355180	.	32/35	.	.	.	.	.	.	.	.	.	32/35	PASS	ENST00000361866	Transcript	.	.	ENSG00000142156	2211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.05)	.	CO6A1_HUMAN	COL6A1	HGNC	Q05BT9_HUMAN	.	UPI000019B179	SNV	COL6A1,missense_variant,p.Gly699Asp,ENST00000361866,;COL6A1,non_coding_transcript_exon_variant,,ENST00000463060,;COL6A1,non_coding_transcript_exon_variant,,ENST00000498614,;COL6A1,upstream_gene_variant,,ENST00000486023,;COL6A1,downstream_gene_variant,,ENST00000466285,;	2210	85	88	SUCCESS
COL6A2	1292	.	GRCh37	21	47551948	47551948	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	49	97	0	ENST00000300527.4:c.2542A>G	p.Asn848Asp	p.N848D	ENST00000300527	NM_001849.3	848	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS13728.1	2542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGAACTTC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF119,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000300527	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	SNV	COL6A2,missense_variant,p.Asn848Asp,ENST00000300527,;FTCD,downstream_gene_variant,,ENST00000397746,;COL6A2,downstream_gene_variant,,ENST00000397763,;FTCD,downstream_gene_variant,,ENST00000359679,;COL6A2,downstream_gene_variant,,ENST00000310645,;FTCD,downstream_gene_variant,,ENST00000397743,;FTCD,downstream_gene_variant,,ENST00000291670,;FTCD,downstream_gene_variant,,ENST00000355384,;FTCD,downstream_gene_variant,,ENST00000446405,;COL6A2,downstream_gene_variant,,ENST00000357838,;COL6A2,downstream_gene_variant,,ENST00000409416,;FTCD,downstream_gene_variant,,ENST00000397748,;FTCD,downstream_gene_variant,,ENST00000460011,;FTCD,downstream_gene_variant,,ENST00000498355,;FTCD,downstream_gene_variant,,ENST00000483568,;	2646	97	105	SUCCESS
PCNT	5116	.	GRCh37	21	47848330	47848330	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	115	0	ENST00000359568.5:c.7516C>T	p.Leu2506=	p.L2506=	ENST00000359568	NM_006031.5	2506	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33592.1	7516	RADIA|MUTECT|MUSE	.	AGTCCCTGGAG	NONE	.	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	35/47	.	.	.	.	.	.	.	.	.	35/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,synonymous_variant,p.%3D,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,upstream_gene_variant,,ENST00000482575,;	7623	115	105	SUCCESS
PCNT	5116	.	GRCh37	21	47848382	47848382	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs368569999	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	39	100	0	ENST00000359568.5:c.7568C>A	p.Ala2523Glu	p.A2523E	ENST00000359568	NM_006031.5	2523	gCg/gAg	0	T:0	.	.	.	.	A	A/E	protein_coding	YES	CCDS33592.1	7568	RADIA|MUTECT|MUSE	.	CCAGGCGCTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	T:0.0001	ENSP00000352572	.	35/47	.	.	.	.	.	.	.	.	rs368569999	35/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.918)	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Ala2523Glu,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,upstream_gene_variant,,ENST00000482575,;	7675	100	84	SUCCESS
IL17RA	23765	.	GRCh37	22	17588634	17588634	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	102	0	ENST00000319363.6:c.1063T>A	p.Tyr355Asn	p.Y355N	ENST00000319363	NM_014339.6	355	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS13739.1	1063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAATACAGT	NONE	.	.	hmmpanther:PTHR15583:SF1,hmmpanther:PTHR15583	.	.	ENSP00000320936	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000319363	Transcript	.	.	ENSG00000177663	5985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.27)	.	I17RA_HUMAN	IL17RA	HGNC	F1JZ08_HUMAN	.	UPI000005031F	SNV	IL17RA,missense_variant,p.Tyr355Asn,ENST00000319363,;	1196	102	78	SUCCESS
CECR5	0	.	GRCh37	22	17629383	17629383	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141580777	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	156	1	ENST00000336737.4:c.398G>A	p.Arg133Gln	p.R133Q	ENST00000336737	NM_033070.2	133	cGg/cAg	0	.	T:0	.	T:0.0014	.	T	R/Q	protein_coding	YES	CCDS33595.1	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCGCTTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR14269:SF10,hmmpanther:PTHR14269,TIGRFAM_domain:TIGR01456,TIGRFAM_domain:TIGR01460,Pfam_domain:PF13344,Superfamily_domains:SSF56784	T:0	.	ENSP00000337358	T:0	3/8	.	.	.	.	.	.	.	.	rs141580777	3/8	PASS	ENST00000336737	Transcript	.	T:0.0002	ENSG00000069998	1843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	T:0	tolerated(0.32)	.	CECR5_HUMAN	CECR5	HGNC	.	.	UPI000000D9E5	SNV	CECR5,missense_variant,p.Arg103Gln,ENST00000155674,;CECR5,missense_variant,p.Arg133Gln,ENST00000336737,;CECR5,intron_variant,,ENST00000399852,;CECR5,non_coding_transcript_exon_variant,,ENST00000463033,;CECR5,non_coding_transcript_exon_variant,,ENST00000480451,;CECR5,upstream_gene_variant,,ENST00000477157,;	424	157	135	SUCCESS
MICAL3	57553	.	GRCh37	22	18367051	18367052	+	intron_variant	Intron	INS	-	-	G	rs764722045	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	230	33	258	0	ENST00000441493.2:c.2241+1592dup		p.*747*	ENST00000441493	NM_015241.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46659.1	.	VARSCANI*|PINDEL	.	TCCACCGGGGG	NONE	.	.	.	.	.	ENSP00000416015	.	.	.	.	.	.	.	.	.	.	rs764722045	.	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODIFIER	16/31	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	insertion	MICAL3,frameshift_variant,p.Arg772ProfsTer68,ENST00000207726,;MICAL3,frameshift_variant,p.Arg772ProfsTer68,ENST00000414725,;MICAL3,frameshift_variant,p.Arg291ProfsTer68,ENST00000461307,;MICAL3,intron_variant,,ENST00000444520,;MICAL3,intron_variant,,ENST00000383094,;MICAL3,intron_variant,,ENST00000585038,;MICAL3,intron_variant,,ENST00000429452,;MICAL3,intron_variant,,ENST00000441493,;MICAL3,intron_variant,,ENST00000400561,;MICAL3,intron_variant,,ENST00000495076,;	.	258	263	SUCCESS
SLC25A1	6576	.	GRCh37	22	19165655	19165655	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	116	0	ENST00000215882.5:c.193C>T	p.Arg65Trp	p.R65W	ENST00000215882	NM_005984.3	65	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS13758.1	193	MUTECT|MUSE|VARSCANS	.	GCCCCGGTACC	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF248,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000215882	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000215882	Transcript	.	.	ENSG00000100075	10979	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	TXTP_HUMAN	SLC25A1	HGNC	B4DP62_HUMAN	.	UPI0000137851	SNV	SLC25A1,missense_variant,p.Arg65Trp,ENST00000215882,;SLC25A1,5_prime_UTR_variant,,ENST00000451283,;CLTCL1,downstream_gene_variant,,ENST00000427926,;CLTCL1,downstream_gene_variant,,ENST00000353891,;CLTCL1,downstream_gene_variant,,ENST00000263200,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000461267,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000468824,;CLTCL1,downstream_gene_variant,,ENST00000536806,;CLTCL1,downstream_gene_variant,,ENST00000442042,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000470922,;CLTCL1,downstream_gene_variant,,ENST00000413132,;CLTCL1,downstream_gene_variant,,ENST00000505027,;CLTCL1,downstream_gene_variant,,ENST00000412649,;	350	116	104	SUCCESS
C22orf29	0	.	GRCh37	22	19839777	19839777	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1157305088	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	48	143	0	ENST00000405640.1:c.8G>A	p.Arg3His	p.R3H	ENST00000405640		3	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS13769.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGAGGC	NONE	.	.	.	.	.	ENSP00000384924	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000405640	Transcript	.	.	ENSG00000215012	26112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.57)	.	BOP_HUMAN	C22orf29	HGNC	C9J0V4_HUMAN	.	UPI0000207B8F	SNV	C22orf29,missense_variant,p.Arg3His,ENST00000416337,;C22orf29,missense_variant,p.Arg3His,ENST00000407472,;C22orf29,missense_variant,p.Arg3His,ENST00000328554,;C22orf29,missense_variant,p.Arg3His,ENST00000405640,;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000329517,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;C22orf29,intron_variant,,ENST00000484072,;	677	144	132	SUCCESS
TXNRD2	10587	.	GRCh37	22	19907097	19907097	+	synonymous_variant	Silent	SNP	G	G	A	rs1009388190	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	69	0	ENST00000400521.1:c.198C>T	p.Ala66=	p.A66=	ENST00000400521	NM_006440.3	66	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42981.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACGGCCAC	NONE	.	.	hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF101,Gene3D:3.50.50.60,Pfam_domain:PF07992,TIGRFAM_domain:TIGR01438,Superfamily_domains:SSF51905	.	.	ENSP00000383365	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000400521	Transcript	.	.	ENSG00000184470	18155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRXR2_HUMAN	TXNRD2	HGNC	.	.	UPI0000167BDD	SNV	TXNRD2,synonymous_variant,p.%3D,ENST00000400518,;TXNRD2,synonymous_variant,p.%3D,ENST00000400521,;TXNRD2,synonymous_variant,p.%3D,ENST00000400519,;TXNRD2,synonymous_variant,p.%3D,ENST00000334363,;TXNRD2,synonymous_variant,p.%3D,ENST00000535882,;TXNRD2,synonymous_variant,p.%3D,ENST00000542719,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000491939,;TXNRD2,intron_variant,,ENST00000474308,;TXNRD2,upstream_gene_variant,,ENST00000484672,;TXNRD2,synonymous_variant,p.%3D,ENST00000400525,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000496729,;TXNRD2,upstream_gene_variant,,ENST00000471835,;TXNRD2,upstream_gene_variant,,ENST00000494454,;	205	69	70	SUCCESS
DGCR8	54487	.	GRCh37	22	20074009	20074009	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	63	0	ENST00000351989.3:c.527del	p.Gly176ValfsTer27	p.G176Vfs*27	ENST00000351989	NM_022720.6	175	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS13773.1	523	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCATAGGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13482,hmmpanther:PTHR13482:SF2	.	.	ENSP00000263209	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000351989	Transcript	.	.	ENSG00000128191	2847	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGCR8_HUMAN	DGCR8	HGNC	C9JSD5_HUMAN	.	UPI0000129225	deletion	DGCR8,frameshift_variant,p.Gly176ValfsTer27,ENST00000351989,;DGCR8,frameshift_variant,p.Gly176ValfsTer27,ENST00000383024,;DGCR8,frameshift_variant,p.Gly176ValfsTer27,ENST00000407755,;DGCR8,downstream_gene_variant,,ENST00000457069,;MIR1306,downstream_gene_variant,,ENST00000408439,;MIR3618,downstream_gene_variant,,ENST00000580330,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,upstream_gene_variant,,ENST00000498171,;	952	63	71	SUCCESS
RTN4R	65078	.	GRCh37	22	20229291	20229291	+	synonymous_variant	Silent	SNP	G	G	A	rs374126911	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	53	127	0	ENST00000043402.7:c.1365C>T	p.Cys455=	p.C455=	ENST00000043402	NM_023004.5	455	tgC/tgT	0	A:0	.	.	.	.	A	C	protein_coding	YES	CCDS13777.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGCAGGT	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000043402	.	2/2	.	.	.	.	.	.	.	.	rs374126911	2/2	PASS	ENST00000043402	Transcript	.	.	ENSG00000040608	18601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTN4R_HUMAN	RTN4R	HGNC	.	.	UPI0000034D62	SNV	RTN4R,synonymous_variant,p.%3D,ENST00000043402,;RTN4R,synonymous_variant,p.%3D,ENST00000416372,;RTN4R,synonymous_variant,p.%3D,ENST00000425986,;RTN4R,downstream_gene_variant,,ENST00000463936,;RTN4R,downstream_gene_variant,,ENST00000469601,;RTN4R,downstream_gene_variant,,ENST00000474642,;	1804	127	133	SUCCESS
RIMBP3	85376	.	GRCh37	22	20458139	20458139	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780222883	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	813	161	994	0	ENST00000426804.1:c.3163C>T	p.Arg1055Trp	p.R1055W	ENST00000426804	NM_015672.1	1055	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS46665.1	3163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGCGCCC	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	rs780222883	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.1)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Arg1055Trp,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3648	994	975	SUCCESS
BCRP2	400892	.	GRCh37	22	21470375	21470375	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	14	219	0	ENST00000461808.1:n.284+85C>T		p.*95*	ENST00000461808				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	CTGCGCAGGAC	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000420508	Transcript	.	.	ENSG00000197210	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KB-1592A4.15	Clone_based_vega_gene	.	.	.	SNV	KB-1592A4.15,non_coding_transcript_exon_variant,,ENST00000420508,;BCRP2,intron_variant,,ENST00000461808,;BCRP2,upstream_gene_variant,,ENST00000398241,;BCRP2,intron_variant,,ENST00000447763,;	3354	219	214	SUCCESS
BCRP2	400892	.	GRCh37	22	21470440	21470440	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	218	11	223	0	ENST00000461808.1:n.284+150G>A		p.*95*	ENST00000461808				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	CCCAGGCATGT	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000420508	Transcript	.	.	ENSG00000197210	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KB-1592A4.15	Clone_based_vega_gene	.	.	.	SNV	KB-1592A4.15,non_coding_transcript_exon_variant,,ENST00000420508,;BCRP2,intron_variant,,ENST00000461808,;BCRP2,upstream_gene_variant,,ENST00000398241,;BCRP2,intron_variant,,ENST00000447763,;	3289	223	229	SUCCESS
GNAZ	2781	.	GRCh37	22	23438309	23438309	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	68	0	ENST00000248996.4:c.427C>T	p.Arg143Cys	p.R143C	ENST00000248996	NM_002073.2	143	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13804.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGCTCC	NONE	.	.	Superfamily_domains:SSF47895,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:1.10.400.10,hmmpanther:PTHR10218:SF65,hmmpanther:PTHR10218	.	.	ENSP00000248996	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000248996	Transcript	.	.	ENSG00000128266	4395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	GNAZ_HUMAN	GNAZ	HGNC	.	.	UPI0000001249	SNV	GNAZ,missense_variant,p.Arg143Cys,ENST00000248996,;RTDR1,intron_variant,,ENST00000216036,;GNAZ,downstream_gene_variant,,ENST00000492538,;	1093	68	39	SUCCESS
SLC2A11	66035	.	GRCh37	22	24219966	24219966	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144951215	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	118	0	ENST00000345044.6:c.595G>A	p.Gly199Arg	p.G199R	ENST00000345044		199	Ggg/Agg	0	A:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS13818.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGGGGCG	NONE	byCluster	.	Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,hmmpanther:PTHR24063:SF5,hmmpanther:PTHR24063,PROSITE_profiles:PS50850	.	A:0.0001	ENSP00000381399	.	7/13	.	.	.	.	.	.	.	.	rs144951215	7/13	PASS	ENST00000398356	Transcript	.	.	ENSG00000133460	14239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	GTR11_HUMAN	SLC2A11	HGNC	Q8TDC5_HUMAN,Q496K8_HUMAN	.	UPI000013CED4	SNV	SLC2A11,missense_variant,p.Gly206Arg,ENST00000398356,;SLC2A11,missense_variant,p.Gly202Arg,ENST00000316185,;SLC2A11,missense_variant,p.Gly199Arg,ENST00000345044,;AP000350.10,intron_variant,,ENST00000433835,;SLC2A11,downstream_gene_variant,,ENST00000405847,;RN7SL268P,downstream_gene_variant,,ENST00000491172,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000467660,;SLC2A11,intron_variant,,ENST00000482576,;SLC2A11,intron_variant,,ENST00000405286,;SLC2A11,upstream_gene_variant,,ENST00000472526,;SLC2A11,3_prime_UTR_variant,,ENST00000405340,;SLC2A11,intron_variant,,ENST00000255830,;SLC2A11,intron_variant,,ENST00000489322,;SLC2A11,intron_variant,,ENST00000461809,;SLC2A11,upstream_gene_variant,,ENST00000473357,;SLC2A11,downstream_gene_variant,,ENST00000418102,;SLC2A11,downstream_gene_variant,,ENST00000436643,;SLC2A11,downstream_gene_variant,,ENST00000423972,;SLC2A11,downstream_gene_variant,,ENST00000473740,;	805	118	101	SUCCESS
GGT5	2687	.	GRCh37	22	24628858	24628858	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	65	241	0	ENST00000327365.4:c.529G>A	p.Ala177Thr	p.A177T	ENST00000327365	NM_001099781.1	177	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42990.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCCACCA	NONE	.	.	Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF5	.	.	ENSP00000381340	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000398292	Transcript	.	.	ENSG00000099998	4260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0.01)	.	GGT5_HUMAN	GGT5	HGNC	.	.	UPI00003B5CB9	SNV	GGT5,missense_variant,p.Ala177Thr,ENST00000398292,;GGT5,missense_variant,p.Ala145Thr,ENST00000263112,;GGT5,missense_variant,p.Gly101Asp,ENST00000418439,;GGT5,missense_variant,p.Ala177Thr,ENST00000327365,;GGT5,downstream_gene_variant,,ENST00000424217,;	863	241	197	SUCCESS
GGT1	2678	.	GRCh37	22	24988238	24988238	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	17	0	ENST00000248923.4:c.-429+8462G>A		p.*143*	ENST00000248923	NM_013430.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42991.1	.	MUTECT|MUSE	.	CAGATGCTGGG	NONE	.	.	.	.	.	ENSP00000320520	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318753	Transcript	.	.	ENSG00000178026	33155	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F211B_HUMAN	FAM211B	HGNC	.	.	UPI00002073C9	SNV	FAM211B,intron_variant,,ENST00000318753,;GGT1,intron_variant,,ENST00000248923,;GGT1,upstream_gene_variant,,ENST00000411974,;GGT1,upstream_gene_variant,,ENST00000456869,;FAM211B,non_coding_transcript_exon_variant,,ENST00000495297,;FAM211B,non_coding_transcript_exon_variant,,ENST00000464490,;FAM211B,3_prime_UTR_variant,,ENST00000404045,;FAM211B,non_coding_transcript_exon_variant,,ENST00000491910,;FAM211B,intron_variant,,ENST00000465334,;FAM211B,intron_variant,,ENST00000446942,;SNRPD3,intron_variant,,ENST00000404603,;FAM211B,intron_variant,,ENST00000460524,;SNRPD3,intron_variant,,ENST00000439775,;	.	17	28	SUCCESS
LRP5L	91355	.	GRCh37	22	25777488	25777488	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs150489866	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	31	0	ENST00000402859.2:c.-468C>T		p.*156*	ENST00000402859	NM_001135772.1			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS33626.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGTCCAT	NONE	by1000G	.	.	A:0.001	.	ENSP00000384291	A:0	1/6	.	.	.	.	.	.	.	.	rs150489866	1/6	PASS	ENST00000402859	Transcript	.	A:0.0002	ENSG00000100068	25323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LRP5L_HUMAN	LRP5L	HGNC	.	.	UPI000006DF62	SNV	LRP5L,5_prime_UTR_variant,,ENST00000402859,;LRP5L,5_prime_UTR_variant,,ENST00000444995,;LRP5L,5_prime_UTR_variant,,ENST00000468442,;	57	31	22	SUCCESS
ADRBK2	0	.	GRCh37	22	26100174	26100174	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs778579878	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	54	151	0	ENST00000324198.6:c.1326C>T		p.X442_splice	ENST00000324198	NM_005160.3	442	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13832.1	1326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGGGTA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF17,hmmpanther:PTHR24355,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000317578	.	15/21	.	.	.	.	.	.	.	.	rs778579878,COSM4103134	15/21	PASS	ENST00000324198	Transcript	.	.	ENSG00000100077	290	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ARBK2_HUMAN	ADRBK2	HGNC	Q8N433_HUMAN	.	UPI0000050EDB	SNV	ADRBK2,synonymous_variant,p.%3D,ENST00000324198,;	1518	151	124	SUCCESS
MYO18B	84700	.	GRCh37	22	26306993	26306993	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	97	0	ENST00000536101.1:c.5340C>A	p.Gly1780=	p.G1780=	ENST00000536101		1780	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54507.1	5340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCTTGAT	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	33/44	.	.	.	.	.	.	.	.	.	33/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	5590	97	95	SUCCESS
GAS2L1	10634	.	GRCh37	22	29706652	29706652	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs768501433	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	58	0	ENST00000341313.6:c.766C>T	p.Arg256Ter	p.R256*	ENST00000341313		256	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	.	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGCGAGTG	NONE	.	.	PROSITE_profiles:PS51460,hmmpanther:PTHR25069:SF123,hmmpanther:PTHR25069,Pfam_domain:PF02187,Gene3D:1v5rA00,SMART_domains:SM00243,Superfamily_domains:0050058	.	.	ENSP00000344012	.	4/5	.	.	.	.	.	.	.	.	rs768501433	4/5	PASS	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,stop_gained,p.Arg256Ter,ENST00000341313,;GAS2L1,stop_gained,p.Arg256Ter,ENST00000403764,;GAS2L1,stop_gained,p.Arg256Ter,ENST00000407854,;GAS2L1,stop_gained,p.Arg256Ter,ENST00000471961,;GAS2L1,stop_gained,p.Arg256Ter,ENST00000360113,;GAS2L1,stop_gained,p.Arg256Ter,ENST00000407647,;GAS2L1,stop_gained,p.Arg256Ter,ENST00000406549,;GAS2L1,downstream_gene_variant,,ENST00000416823,;RASL10A,downstream_gene_variant,,ENST00000401450,;GAS2L1,downstream_gene_variant,,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000216101,;RASL10A,downstream_gene_variant,,ENST00000608559,;RASL10A,downstream_gene_variant,,ENST00000474590,;GAS2L1,non_coding_transcript_exon_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	898	58	42	SUCCESS
AP1B1	162	.	GRCh37	22	29737569	29737569	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375168948	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	57	161	1	ENST00000405198.1:c.1717G>A	p.Val573Ile	p.V573I	ENST00000405198		573	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS13855.1	1717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGACGGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF12,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371	.	T:0.0001	ENSP00000350199	.	13/23	.	.	.	.	.	.	.	.	rs375168948	13/23	PASS	ENST00000357586	Transcript	.	.	ENSG00000100280	554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.435)	.	tolerated(0.09)	.	AP1B1_HUMAN	AP1B1	HGNC	C9J1E7_HUMAN	.	UPI000013CED0	SNV	AP1B1,missense_variant,p.Val573Ile,ENST00000356015,;AP1B1,missense_variant,p.Val573Ile,ENST00000402502,;AP1B1,missense_variant,p.Val573Ile,ENST00000421126,;AP1B1,missense_variant,p.Val573Ile,ENST00000357586,;AP1B1,missense_variant,p.Val573Ile,ENST00000405198,;AP1B1,missense_variant,p.Val573Ile,ENST00000432560,;AP1B1,missense_variant,p.Val573Ile,ENST00000415447,;AP1B1,missense_variant,p.Val573Ile,ENST00000317368,;AP1B1,upstream_gene_variant,,ENST00000472057,;	1904	162	161	SUCCESS
SF3A1	10291	.	GRCh37	22	30736780	30736782	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs1449715093	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	81	0	ENST00000215793.8:c.1091_1093del	p.Glu364del	p.E364del	ENST00000215793	NM_005877.4	364	gAAGgg/ggg	0	.	.	.	.	.	-	EG/G	protein_coding	YES	CCDS13875.1	1091-1093	INDELOCATOR|VARSCANI	.	TCTGCCCTTCTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15316,Pfam_domain:PF12230	.	.	ENSP00000215793	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000215793	Transcript	.	.	ENSG00000099995	10765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SF3A1_HUMAN	SF3A1	HGNC	.	.	UPI0000000C88	deletion	SF3A1,inframe_deletion,p.Glu364del,ENST00000215793,;SF3A1,inframe_deletion,p.Glu60del,ENST00000444440,;SF3A1,inframe_deletion,p.Glu299del,ENST00000439242,;SF3A1,intron_variant,,ENST00000411423,;SF3A1,upstream_gene_variant,,ENST00000498259,;SF3A1,upstream_gene_variant,,ENST00000485618,;SF3A1,downstream_gene_variant,,ENST00000471342,;SF3A1,downstream_gene_variant,,ENST00000471037,;SF3A1,downstream_gene_variant,,ENST00000447376,;	1246-1248	81	62	SUCCESS
SLC35E4	339665	.	GRCh37	22	31042723	31042723	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755179385	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	55	0	ENST00000343605.4:c.758G>A	p.Arg253His	p.R253H	ENST00000343605	NM_001001479.2	253	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS13882.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCGCCTCT	NONE	byFrequency	.	hmmpanther:PTHR11132:SF41,hmmpanther:PTHR11132,Pfam_domain:PF03151,Superfamily_domains:0043518	.	.	ENSP00000339626	.	2/2	.	.	.	.	.	.	.	.	rs755179385	2/2	PASS	ENST00000343605	Transcript	.	.	ENSG00000100036	17058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.65)	.	S35E4_HUMAN	SLC35E4	HGNC	.	.	UPI0000198650	SNV	SLC35E4,missense_variant,p.Arg253His,ENST00000343605,;SLC35E4,intron_variant,,ENST00000451479,;SLC35E4,intron_variant,,ENST00000300385,;SLC35E4,intron_variant,,ENST00000406566,;	1557	55	49	SUCCESS
DUSP18	150290	.	GRCh37	22	31059555	31059555	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775345868	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	95	0	ENST00000334679.3:c.436G>A	p.Gly146Ser	p.G146S	ENST00000334679	NM_152511.3	146	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13883.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCGCTGT	NONE	byFrequency	.	PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF327,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000333917	.	2/2	.	.	.	.	.	.	.	.	rs775345868,COSM362174	2/2	PASS	ENST00000334679	Transcript	.	.	ENSG00000167065	18484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.987)	.	tolerated(0.05)	0,1	DUS18_HUMAN	DUSP18	HGNC	F8VX42_HUMAN	.	UPI0000037B0A	SNV	DUSP18,missense_variant,p.Gly146Ser,ENST00000334679,;DUSP18,missense_variant,p.Gly146Ser,ENST00000407308,;DUSP18,missense_variant,p.Arg109Gln,ENST00000403268,;DUSP18,missense_variant,p.Gly146Ser,ENST00000342474,;DUSP18,missense_variant,p.Gly146Ser,ENST00000404885,;SLC35E4,intron_variant,,ENST00000451479,;SLC35E4,downstream_gene_variant,,ENST00000406566,;DUSP18,downstream_gene_variant,,ENST00000442752,;DUSP18,intron_variant,,ENST00000461301,;DUSP18,missense_variant,p.Gly146Ser,ENST00000377087,;DUSP18,upstream_gene_variant,,ENST00000430175,;DUSP18,upstream_gene_variant,,ENST00000412865,;	942	96	101	SUCCESS
SMTN	6525	.	GRCh37	22	31484696	31484696	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	156	0	ENST00000347557.2:c.306T>C	p.Ala102=	p.A102=	ENST00000347557	NM_001207017.1	102	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13887.1	306	MUTECT|MUSE|VARSCANS	.	AGCGCTGGTGA	NONE	.	.	hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915,Pfam_domain:PF12510	.	.	ENSP00000351593	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000358743	Transcript	.	.	ENSG00000183963	11126	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMTN_HUMAN	SMTN	HGNC	C9JP19_HUMAN,C9JGQ0_HUMAN	.	UPI00001B0272	SNV	SMTN,synonymous_variant,p.%3D,ENST00000416786,;SMTN,synonymous_variant,p.%3D,ENST00000438223,;SMTN,synonymous_variant,p.%3D,ENST00000333137,;SMTN,synonymous_variant,p.%3D,ENST00000358743,;SMTN,synonymous_variant,p.%3D,ENST00000347557,;SMTN,synonymous_variant,p.%3D,ENST00000431481,;SMTN,downstream_gene_variant,,ENST00000432777,;SMTN,upstream_gene_variant,,ENST00000455608,;SMTN,downstream_gene_variant,,ENST00000440425,;SMTN,downstream_gene_variant,,ENST00000426927,;SMTN,upstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000422839,;SMTN,non_coding_transcript_exon_variant,,ENST00000475548,;SMTN,downstream_gene_variant,,ENST00000482444,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,upstream_gene_variant,,ENST00000466272,;SMTN,downstream_gene_variant,,ENST00000497697,;SMTN,upstream_gene_variant,,ENST00000493335,;	524	156	141	SUCCESS
RFPL2	10739	.	GRCh37	22	32586994	32586994	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1351536513	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	101	214	0	ENST00000248983.4:c.632G>A	p.Arg211His	p.R211H	ENST00000248983	NM_001159545.1	211	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43009.2	902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCGGTCT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000383096	.	5/5	.	.	.	.	.	.	.	.	COSM3405632,COSM3405631,COSM3405630	5/5	PASS	ENST00000400237	Transcript	.	.	ENSG00000128253	9979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.001)	.	tolerated(0.11)	1,1,1	RFPL2_HUMAN	RFPL2	HGNC	.	.	UPI000013CC66	SNV	RFPL2,missense_variant,p.Arg301His,ENST00000400237,;RFPL2,missense_variant,p.Arg211His,ENST00000248983,;RFPL2,missense_variant,p.Arg240His,ENST00000248980,;RFPL2,missense_variant,p.Arg211His,ENST00000400236,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	1838	214	200	SUCCESS
TMPRSS6	164656	.	GRCh37	22	37465129	37465129	+	synonymous_variant	Silent	SNP	G	G	A	rs1488283715	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	34	0	ENST00000346753.3:c.2124C>T	p.Gly708=	p.G708=	ENST00000346753	NM_153609.2	708	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13941.1	2124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCGCCCCA	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,PIRSF_domain:PIRSF037135,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96,PROSITE_profiles:PS50240	.	.	ENSP00000334962	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000346753	Transcript	.	.	ENSG00000187045	16517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS6_HUMAN	TMPRSS6	HGNC	B0QYB6_HUMAN	.	UPI00000747C8	SNV	TMPRSS6,synonymous_variant,p.%3D,ENST00000406725,;TMPRSS6,synonymous_variant,p.%3D,ENST00000406856,;TMPRSS6,synonymous_variant,p.%3D,ENST00000346753,;TMPRSS6,synonymous_variant,p.%3D,ENST00000381792,;	2241	35	36	SUCCESS
GGA1	26088	.	GRCh37	22	38016853	38016853	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	106	0	ENST00000343632.4:c.461A>G	p.Asp154Gly	p.D154G	ENST00000343632	NM_013365.4	154	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13951.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGACACTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13856:SF82,hmmpanther:PTHR13856,Superfamily_domains:SSF48464	.	.	ENSP00000341344	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000343632	Transcript	.	.	ENSG00000100083	17842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	GGA1_HUMAN	GGA1	HGNC	B0QYS5_HUMAN,B0QYS4_HUMAN,B0QYS3_HUMAN,B0QYS2_HUMAN,B0QYS1_HUMAN,B0QYS0_HUMAN,B0QYR9_HUMAN,B0QYR8_HUMAN	.	UPI0000001BEE	SNV	GGA1,missense_variant,p.Asp171Gly,ENST00000381756,;GGA1,missense_variant,p.Asp154Gly,ENST00000325180,;GGA1,missense_variant,p.Asp81Gly,ENST00000406772,;GGA1,missense_variant,p.Asp81Gly,ENST00000423024,;GGA1,missense_variant,p.Asp146Gly,ENST00000449944,;GGA1,missense_variant,p.Asp154Gly,ENST00000343632,;GGA1,missense_variant,p.Asp121Gly,ENST00000337437,;GGA1,missense_variant,p.Asp81Gly,ENST00000429218,;GGA1,missense_variant,p.Asp81Gly,ENST00000413251,;GGA1,downstream_gene_variant,,ENST00000431745,;GGA1,downstream_gene_variant,,ENST00000439161,;GGA1,downstream_gene_variant,,ENST00000447515,;GGA1,downstream_gene_variant,,ENST00000414350,;GGA1,downstream_gene_variant,,ENST00000326597,;GGA1,downstream_gene_variant,,ENST00000411501,;GGA1,downstream_gene_variant,,ENST00000405147,;GGA1,downstream_gene_variant,,ENST00000453208,;GGA1,upstream_gene_variant,,ENST00000481613,;GGA1,downstream_gene_variant,,ENST00000489772,;GGA1,downstream_gene_variant,,ENST00000491295,;GGA1,upstream_gene_variant,,ENST00000475445,;	847	106	99	SUCCESS
MICALL1	85377	.	GRCh37	22	38315101	38315101	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	91	0	ENST00000215957.6:c.485G>A	p.Ser162Asn	p.S162N	ENST00000215957	NM_033386.3	162	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS13961.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCACGT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33,Gene3D:2.10.110.10,Superfamily_domains:SSF57716	.	.	ENSP00000215957	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,missense_variant,p.Ser162Asn,ENST00000215957,;MICALL1,missense_variant,p.Ser78Asn,ENST00000445494,;MICALL1,intron_variant,,ENST00000489812,;	611	91	96	SUCCESS
PICK1	9463	.	GRCh37	22	38470413	38470413	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	41	185	0	ENST00000356976.3:c.934C>T	p.Arg312Cys	p.R312C	ENST00000356976	NM_012407.3	312	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13965.1	934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCGCAAG	NONE	.	.	PROSITE_profiles:PS50870,hmmpanther:PTHR12141,hmmpanther:PTHR12141:SF2,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015,Superfamily_domains:SSF103657	.	.	ENSP00000385205	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000404072	Transcript	.	.	ENSG00000100151	9394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PICK1_HUMAN	PICK1	HGNC	F6VY12_HUMAN,F6V107_HUMAN,F6TII1_HUMAN	.	UPI0000131A98	SNV	PICK1,missense_variant,p.Arg312Cys,ENST00000356976,;PICK1,missense_variant,p.Arg312Cys,ENST00000404072,;SLC16A8,downstream_gene_variant,,ENST00000320521,;PICK1,downstream_gene_variant,,ENST00000424694,;RP5-1039K5.13,upstream_gene_variant,,ENST00000445483,;SLC16A8,downstream_gene_variant,,ENST00000469516,;PICK1,downstream_gene_variant,,ENST00000468288,;PICK1,non_coding_transcript_exon_variant,,ENST00000484021,;PICK1,downstream_gene_variant,,ENST00000472724,;PICK1,downstream_gene_variant,,ENST00000432756,;PICK1,downstream_gene_variant,,ENST00000426258,;PICK1,downstream_gene_variant,,ENST00000494434,;	1281	185	179	SUCCESS
CBX6	23466	.	GRCh37	22	39262901	39262901	+	synonymous_variant	Silent	SNP	G	G	A	rs765234978	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	79	0	ENST00000407418.3:c.552C>T	p.Gly184=	p.G184=	ENST00000407418		184	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13980.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGCCCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22812:SF8,hmmpanther:PTHR22812	.	.	ENSP00000384490	.	5/5	.	.	.	.	.	.	.	.	rs765234978	5/5	PASS	ENST00000407418	Transcript	.	.	ENSG00000183741	1556	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBX6_HUMAN	CBX6	HGNC	.	.	UPI00001271FD	SNV	CBX6,synonymous_variant,p.%3D,ENST00000216083,;CBX6,synonymous_variant,p.%3D,ENST00000407418,;CBX6,downstream_gene_variant,,ENST00000469420,;	676	79	66	SUCCESS
MIEF1	54471	.	GRCh37	22	39908399	39908399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	55	0	ENST00000325301.2:c.485T>C	p.Val162Ala	p.V162A	ENST00000325301	NM_019008.4	162	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13995.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTGGACA	NONE	.	.	hmmpanther:PTHR16451:SF2,hmmpanther:PTHR16451	.	.	ENSP00000327124	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000325301	Transcript	.	.	ENSG00000100335	25979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(1)	.	MID51_HUMAN	MIEF1	HGNC	B0QY94_HUMAN	.	UPI000006FEB4	SNV	MIEF1,missense_variant,p.Val162Ala,ENST00000402881,;MIEF1,missense_variant,p.Val162Ala,ENST00000404569,;MIEF1,missense_variant,p.Val162Ala,ENST00000325301,;MIEF1,downstream_gene_variant,,ENST00000434364,;MIEF1,synonymous_variant,p.%3D,ENST00000428069,;MIEF1,synonymous_variant,p.%3D,ENST00000433117,;	909	55	56	SUCCESS
ATF4	468	.	GRCh37	22	39918267	39918267	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs771492320	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	337	127	400	0	ENST00000337304.2:c.719del	p.Gly240AlafsTer30	p.G240Afs*30	ENST00000337304	NM_001675.2	239	aGg/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS13996.1	716	INDELOCATOR*|VARSCANI*|PINDEL	.	CTACCAGGGGCT	NONE	byFrequency	.	hmmpanther:PTHR13044:SF2,hmmpanther:PTHR13044	.	.	ENSP00000336790	.	2/2	.	.	.	.	.	.	.	.	rs771492320	2/2	PASS	ENST00000337304	Transcript	.	.	ENSG00000128272	786	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATF4_HUMAN	ATF4	HGNC	Q96AQ3_HUMAN,B4DJD4_HUMAN	.	UPI000000DABF	deletion	ATF4,frameshift_variant,p.Gly240AlafsTer30,ENST00000396680,;ATF4,frameshift_variant,p.Gly240AlafsTer30,ENST00000337304,;ATF4,frameshift_variant,p.Gly240AlafsTer30,ENST00000404241,;MIEF1,downstream_gene_variant,,ENST00000325301,;	1598	400	464	SUCCESS
SREBF2	6721	.	GRCh37	22	42229248	42229248	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	rs755560552	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	62	0	ENST00000361204.4:c.-21del		p.*7*	ENST00000361204	NM_004599.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14023.1	.	VARSCANI*|PINDEL	.	ACGGCAGGGGGG	NONE	.	.	.	.	.	ENSP00000354476	.	1/19	.	.	.	.	.	.	.	.	rs755560552	1/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	deletion	SREBF2,5_prime_UTR_variant,,ENST00000361204,;RP5-821D11.7,non_coding_transcript_exon_variant,,ENST00000333487,;SREBF2,5_prime_UTR_variant,,ENST00000424354,;	140	62	70	SUCCESS
EFCAB6	64800	.	GRCh37	22	44067890	44067890	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770841643	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	54	165	0	ENST00000262726.7:c.1603G>A	p.Val535Ile	p.V535I	ENST00000262726	NM_022785.3	535	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS14049.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACGTGCA	NONE	byFrequency	.	Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,PROSITE_profiles:PS50222	.	.	ENSP00000262726	.	15/32	.	.	.	.	.	.	.	.	rs770841643	15/32	PASS	ENST00000262726	Transcript	.	.	ENSG00000186976	24204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.96)	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	SNV	EFCAB6,missense_variant,p.Val535Ile,ENST00000262726,;EFCAB6,missense_variant,p.Val383Ile,ENST00000396231,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000468552,;	1857	165	145	SUCCESS
CELSR1	9620	.	GRCh37	22	46829297	46829297	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	46	0	ENST00000262738.3:c.4604A>G	p.Tyr1535Cys	p.Y1535C	ENST00000262738	NM_014246.1	1535	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14076.1	4604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGTAGTAC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,PROSITE_profiles:PS50025	.	.	ENSP00000262738	.	5/35	.	.	.	.	.	.	.	.	COSM3357348	5/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Tyr1535Cys,ENST00000262738,;	4604	46	36	SUCCESS
SBF1	6305	.	GRCh37	22	50894775	50894775	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	84	0	ENST00000380817.3:c.4136T>C	p.Val1379Ala	p.V1379A	ENST00000380817	NM_002972.2	1379	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS14091.2	4136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAATACCTCA	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000370196	.	31/41	.	.	.	.	.	.	.	.	.	31/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.12)	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,missense_variant,p.Val1353Ala,ENST00000390679,;SBF1,missense_variant,p.Val1354Ala,ENST00000348911,;SBF1,missense_variant,p.Val1379Ala,ENST00000380817,;SBF1,upstream_gene_variant,,ENST00000418590,;SBF1,downstream_gene_variant,,ENST00000476293,;SBF1,upstream_gene_variant,,ENST00000470434,;	4320	84	76	SUCCESS
SLC9A2	6549	.	GRCh37	2	103311560	103311560	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	109	0	ENST00000233969.2:c.1574T>G	p.Phe525Cys	p.F525C	ENST00000233969	NM_003048.3	525	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS2062.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTTTTGGA	NONE	.	.	hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	.	.	ENSP00000233969	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000233969	Transcript	.	.	ENSG00000115616	11072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0.02)	.	SL9A2_HUMAN	SLC9A2	HGNC	.	.	UPI000012FD21	SNV	SLC9A2,missense_variant,p.Phe525Cys,ENST00000233969,;SLC9A2,non_coding_transcript_exon_variant,,ENST00000469286,;	1716	109	102	SUCCESS
RGPD4	285190	.	GRCh37	2	108475988	108475988	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1414962651	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	94	283	1	ENST00000408999.3:c.1612A>G	p.Thr538Ala	p.T538A	ENST00000408999	NM_182588.2	538	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46381.1	1612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTACTCTG	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.15)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Thr538Ala,ENST00000408999,;RGPD4,missense_variant,p.Thr538Ala,ENST00000354986,;	1689	284	257	SUCCESS
BUB1	699	.	GRCh37	2	111416240	111416240	+	synonymous_variant	Silent	SNP	C	C	T	rs1219203357	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	106	0	ENST00000302759.6:c.1356G>A	p.Thr452=	p.T452=	ENST00000302759	NM_004336.4	452	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33273.1	1356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCGTTGC	NONE	.	.	hmmpanther:PTHR14030:SF3,hmmpanther:PTHR14030	.	.	ENSP00000302530	.	12/25	.	.	.	.	.	.	.	.	COSM201177	12/25	PASS	ENST00000302759	Transcript	.	.	ENSG00000169679	1148	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BUB1_HUMAN	BUB1	HGNC	Q9BXX5_HUMAN,C9JRC7_HUMAN,C9JQA4_HUMAN,C9IYH4_HUMAN	.	UPI00000012C4	SNV	BUB1,synonymous_variant,p.%3D,ENST00000409311,;BUB1,synonymous_variant,p.%3D,ENST00000302759,;BUB1,synonymous_variant,p.%3D,ENST00000535254,;BUB1,non_coding_transcript_exon_variant,,ENST00000466333,;BUB1,downstream_gene_variant,,ENST00000477481,;BUB1,downstream_gene_variant,,ENST00000465029,;	1475	106	105	SUCCESS
RALB	5899	.	GRCh37	2	121036312	121036312	+	synonymous_variant	Silent	SNP	C	C	T	rs1435620463	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	88	0	ENST00000272519.5:c.72C>T	p.Gly24=	p.G24=	ENST00000272519	NM_002881.2	24	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2131.1	72	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGTTGG	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF199,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000272519	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000272519	Transcript	.	.	ENSG00000144118	9840	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RALB_HUMAN	RALB	HGNC	C9JYR1_HUMAN,C9J6B1_HUMAN	.	UPI000000124F	SNV	RALB,synonymous_variant,p.%3D,ENST00000420510,;RALB,synonymous_variant,p.%3D,ENST00000449649,;RALB,synonymous_variant,p.%3D,ENST00000447591,;RALB,synonymous_variant,p.%3D,ENST00000412383,;RALB,synonymous_variant,p.%3D,ENST00000404963,;RALB,synonymous_variant,p.%3D,ENST00000474855,;RALB,synonymous_variant,p.%3D,ENST00000272519,;RALB,intron_variant,,ENST00000470417,;RALB,synonymous_variant,p.%3D,ENST00000431732,;	342	88	62	SUCCESS
GLI2	2736	.	GRCh37	2	121746146	121746146	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	60	124	0	ENST00000361492.4:c.2656C>T	p.Gln886Ter	p.Q886*	ENST00000361492	NM_005270.4	886	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS33283.1	2656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGCAGTAC	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,stop_gained,p.Gln886Ter,ENST00000452319,;GLI2,stop_gained,p.Gln886Ter,ENST00000361492,;GLI2,stop_gained,p.Gln558Ter,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,downstream_gene_variant,,ENST00000437950,;	2716	124	143	SUCCESS
WDR33	55339	.	GRCh37	2	128471170	128471170	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373594035	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	120	1	ENST00000322313.4:c.3295C>T	p.Arg1099Cys	p.R1099C	ENST00000322313	NM_018383.4	1099	Cgc/Tgc	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS2150.1	3295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCGCCCTC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22836	.	A:0	ENSP00000325377	.	18/22	.	.	.	.	.	.	.	.	rs373594035,COSM1006316	18/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.876)	.	deleterious_low_confidence(0)	0,1	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,missense_variant,p.Arg1099Cys,ENST00000322313,;	3454	121	77	SUCCESS
CCDC74B	91409	.	GRCh37	2	130897479	130897479	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765400933	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	33	94	0	ENST00000310463.6:c.992G>A	p.Ser331Asn	p.S331N	ENST00000310463	NM_207310.2	331	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS2155.1	992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCTCTTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF14917	.	.	ENSP00000308873	.	7/8	.	.	.	.	.	.	.	.	rs765400933	7/8	PASS	ENST00000310463	Transcript	.	.	ENSG00000152076	25267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.34)	.	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,missense_variant,p.Ser265Asn,ENST00000409943,;CCDC74B,missense_variant,p.Ser433Asn,ENST00000392984,;CCDC74B,missense_variant,p.Ser331Asn,ENST00000310463,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000498526,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,downstream_gene_variant,,ENST00000434929,;CCDC74B,downstream_gene_variant,,ENST00000423263,;MED15P9,downstream_gene_variant,,ENST00000424716,;	1130	94	89	SUCCESS
SMPD4	55627	.	GRCh37	2	130939427	130939427	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	rs375200672	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	66	0	ENST00000409031.1:c.-253del		p.*85*	ENST00000409031	NM_017951.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS42751.1	.	INDELOCATOR|VARSCANI	.	TTAGTGCCCCCC	NONE	byFrequency|byCluster|by1000G	.	.	.	.	ENSP00000386531	.	1/20	.	.	.	.	.	.	.	.	rs576211444,rs746715754	1/20	PASS	ENST00000409031	Transcript	.	-:0.0028	ENSG00000136699	32949	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	deletion	SMPD4,5_prime_UTR_variant,,ENST00000409031,;SMPD4,5_prime_UTR_variant,,ENST00000431183,;MZT2B,intron_variant,,ENST00000425361,;MZT2B,intron_variant,,ENST00000457492,;SMPD4,upstream_gene_variant,,ENST00000339679,;MZT2B,upstream_gene_variant,,ENST00000455239,;SMPD4,upstream_gene_variant,,ENST00000453750,;MZT2B,upstream_gene_variant,,ENST00000409255,;SMPD4,upstream_gene_variant,,ENST00000351288,;SMPD4,upstream_gene_variant,,ENST00000452225,;SMPD4,upstream_gene_variant,,ENST00000443958,;SMPD4,upstream_gene_variant,,ENST00000441135,;MZT2B,upstream_gene_variant,,ENST00000281871,;SMPD4,upstream_gene_variant,,ENST00000426662,;AC018804.1,upstream_gene_variant,,ENST00000578074,;SMPD4,upstream_gene_variant,,ENST00000473720,;MZT2B,upstream_gene_variant,,ENST00000491178,;MZT2B,upstream_gene_variant,,ENST00000480182,;SMPD4,upstream_gene_variant,,ENST00000433118,;SMPD4,upstream_gene_variant,,ENST00000454468,;SMPD4,upstream_gene_variant,,ENST00000412570,;SMPD4,upstream_gene_variant,,ENST00000439029,;MZT2B,upstream_gene_variant,,ENST00000485869,;	897	66	72	SUCCESS
TUBA3E	112714	.	GRCh37	2	130951824	130951824	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	57	0	ENST00000312988.7:c.591T>A	p.His197Gln	p.H197Q	ENST00000312988	NM_207312.2	197	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS2158.1	591	RADIA|SOMATICSNIPER|VARSCANS	.	TCAGAATGTTC	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000318197	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000312988	Transcript	.	.	ENSG00000152086	20765	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	TBA3E_HUMAN	TUBA3E	HGNC	F8VXZ7_HUMAN	.	UPI00001BE8EB	SNV	TUBA3E,missense_variant,p.His197Gln,ENST00000312988,;MZT2B,downstream_gene_variant,,ENST00000409255,;MZT2B,downstream_gene_variant,,ENST00000457492,;MZT2B,downstream_gene_variant,,ENST00000425361,;MZT2B,downstream_gene_variant,,ENST00000455239,;MZT2B,downstream_gene_variant,,ENST00000281871,;MZT2B,downstream_gene_variant,,ENST00000480182,;	692	57	53	SUCCESS
TUBA3D	113457	.	GRCh37	2	132237857	132237857	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755317564	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	45	377	0	ENST00000321253.6:c.591T>A	p.His197Gln	p.H197Q	ENST00000321253	NM_080386.3	197	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS33290.1	591	RADIA|MUTECT|MUSE|VARSCANS	.	GAACATTCTGA	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000326042	.	4/5	.	.	.	.	.	.	.	.	rs755317564	4/5	PASS	ENST00000321253	Transcript	.	.	ENSG00000075886	24071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.129)	.	deleterious_low_confidence(0)	.	TBA3C_HUMAN	TUBA3D	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3D,missense_variant,p.His197Gln,ENST00000321253,;MZT2A,downstream_gene_variant,,ENST00000309451,;TUBA3D,non_coding_transcript_exon_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	698	377	315	SUCCESS
CCDC74A	90557	.	GRCh37	2	132290627	132290627	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773765273	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	26	286	1	ENST00000295171.6:c.992G>A	p.Ser331Asn	p.S331N	ENST00000295171	NM_138770.2	331	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS2167.1	992	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGCCTCT	NONE	byFrequency	.	Pfam_domain:PF14917	.	.	ENSP00000295171	.	7/8	.	.	.	.	.	.	.	.	rs773765273	7/8	PASS	ENST00000295171	Transcript	.	.	ENSG00000163040	25197	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.32)	.	CC74A_HUMAN	CCDC74A	HGNC	.	.	UPI000006E43A	SNV	CCDC74A,missense_variant,p.Ser331Asn,ENST00000295171,;CCDC74A,missense_variant,p.Ser265Asn,ENST00000409856,;CCDC74A,3_prime_UTR_variant,,ENST00000467992,;CCDC74A,downstream_gene_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000468650,;CCDC74A,downstream_gene_variant,,ENST00000454549,;MED15P4,downstream_gene_variant,,ENST00000417579,;	1130	287	234	SUCCESS
CCNT2	905	.	GRCh37	2	135711218	135711218	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	100	271	0	ENST00000264157.5:c.1193A>T	p.Asp398Val	p.D398V	ENST00000264157	NM_058241.2	398	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2174.1	1193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGACAAAA	NONE	.	.	hmmpanther:PTHR10026:SF43,hmmpanther:PTHR10026	.	.	ENSP00000264157	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000264157	Transcript	.	.	ENSG00000082258	1600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.01)	.	CCNT2_HUMAN	CCNT2	HGNC	.	.	UPI000013E228	SNV	CCNT2,missense_variant,p.Asp398Val,ENST00000264157,;CCNT2,missense_variant,p.Asp398Val,ENST00000295238,;CCNT2,missense_variant,p.Asp223Val,ENST00000537343,;CCNT2,intron_variant,,ENST00000452521,;CCNT2,downstream_gene_variant,,ENST00000438691,;CCNT2,downstream_gene_variant,,ENST00000446247,;CCNT2,3_prime_UTR_variant,,ENST00000452839,;CCNT2,3_prime_UTR_variant,,ENST00000419781,;	1223	271	143	SUCCESS
ZRANB3	84083	.	GRCh37	2	136029454	136029454	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771804305	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	27	60	0	ENST00000264159.6:c.1090C>T	p.Arg364Cys	p.R364C	ENST00000264159	NM_032143.2	364	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS46419.1	1090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACGAGTCT	NONE	byFrequency	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF205,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000264159	.	10/21	.	.	.	.	.	.	.	.	rs771804305	10/21	PASS	ENST00000264159	Transcript	.	.	ENSG00000121988	25249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.01)	.	ZRAB3_HUMAN	ZRANB3	HGNC	.	.	UPI0000509F0C	SNV	ZRANB3,missense_variant,p.Arg364Cys,ENST00000401392,;ZRANB3,missense_variant,p.Arg364Cys,ENST00000536680,;ZRANB3,missense_variant,p.Arg364Cys,ENST00000264159,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000452187,;ZRANB3,missense_variant,p.Arg364Cys,ENST00000403017,;	1207	60	37	SUCCESS
DARS	0	.	GRCh37	2	136742990	136742990	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs765186203	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	91	0	ENST00000264161.4:c.49A>T	p.Ile17Phe	p.I17F	ENST00000264161	NM_001349.2	17	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS2180.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATCTCCC	NONE	.	.	hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF10	.	.	ENSP00000264161	.	1/16	.	.	.	.	.	.	.	.	rs765186203	1/16	PASS	ENST00000264161	Transcript	.	.	ENSG00000115866	2678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	SYDC_HUMAN	DARS	HGNC	Q68CR9_HUMAN,Q53T60_HUMAN,Q53R85_HUMAN,D3DP78_HUMAN,C9JQM9_HUMAN,C9JLC1_HUMAN,C9J7S3_HUMAN	.	UPI000013639B	SNV	DARS,missense_variant,p.Ile17Phe,ENST00000264161,;DARS,5_prime_UTR_variant,,ENST00000537273,;DARS,intron_variant,,ENST00000456565,;DARS,intron_variant,,ENST00000449218,;DARS,intron_variant,,ENST00000441323,;AC093391.2,non_coding_transcript_exon_variant,,ENST00000444406,;AC093391.2,non_coding_transcript_exon_variant,,ENST00000438432,;AC093391.2,non_coding_transcript_exon_variant,,ENST00000419808,;AC093391.2,upstream_gene_variant,,ENST00000446492,;DARS,upstream_gene_variant,,ENST00000463008,;DARS,missense_variant,p.Ile49Phe,ENST00000435076,;DARS,upstream_gene_variant,,ENST00000474184,;	265	91	44	SUCCESS
LRP1B	53353	.	GRCh37	2	141232790	141232790	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs377526659	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	94	178	0	ENST00000389484.3:c.9542T>A	p.Ile3181Lys	p.I3181K	ENST00000389484	NM_018557.2	3181	aTa/aAa	0	G:0.0002	.	.	.	.	T	I/K	protein_coding	YES	CCDS2182.1	9542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTATTGTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	G:0	ENSP00000374135	.	60/91	.	.	.	.	.	.	.	.	rs377526659	60/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.308)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Ile3181Lys,ENST00000389484,;	10514	178	124	SUCCESS
ARHGAP15	55843	.	GRCh37	2	144313999	144313999	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	68	121	0	ENST00000295095.6:c.948T>C	p.Tyr316=	p.Y316=	ENST00000295095	NM_018460.3	316	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS2184.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATATCGAGT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF5,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000295095	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000295095	Transcript	.	.	ENSG00000075884	21030	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG15_HUMAN	ARHGAP15	HGNC	.	.	UPI0000035D98	SNV	ARHGAP15,synonymous_variant,p.%3D,ENST00000295095,;RP11-570L15.1,intron_variant,,ENST00000553076,;RP11-570L15.2,intron_variant,,ENST00000546678,;ARHGAP15,synonymous_variant,p.%3D,ENST00000419455,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000549436,;	1115	121	88	SUCCESS
ACVR2A	92	.	GRCh37	2	148674907	148674907	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	85	232	0	ENST00000241416.7:c.728A>T	p.His243Leu	p.H243L	ENST00000241416	NM_001616.4	243	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS33301.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCATGAGA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,missense_variant,p.His243Leu,ENST00000241416,;ACVR2A,missense_variant,p.His243Leu,ENST00000404590,;ACVR2A,missense_variant,p.His135Leu,ENST00000535787,;	1364	232	118	SUCCESS
NEB	4703	.	GRCh37	2	152467281	152467281	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	122	0	ENST00000172853.10:c.11176del	p.Ser3726AlafsTer14	p.S3726Afs*14	ENST00000172853		3726	Agc/gc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS54407.1	11905	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGGCTGATAT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	79/182	.	.	.	.	.	.	.	.	.	79/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	deletion	NEB,frameshift_variant,p.Ser3969AlafsTer14,ENST00000603639,;NEB,frameshift_variant,p.Ser3726AlafsTer14,ENST00000172853,;NEB,frameshift_variant,p.Ser3969AlafsTer14,ENST00000427231,;NEB,frameshift_variant,p.Ser3969AlafsTer14,ENST00000397345,;NEB,frameshift_variant,p.Ser3969AlafsTer14,ENST00000604864,;NEB,frameshift_variant,p.Ser3726AlafsTer14,ENST00000409198,;	12108	122	96	SUCCESS
NBAS	51594	.	GRCh37	2	15607895	15607895	+	synonymous_variant	Silent	SNP	A	A	G	rs762510455	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	119	306	0	ENST00000281513.5:c.1911T>C	p.Ser637=	p.S637=	ENST00000281513	NM_015909.3	637	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1685.1	1911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATACTGTC	NONE	byFrequency	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	18/52	.	.	.	.	.	.	.	.	rs762510455	18/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,synonymous_variant,p.%3D,ENST00000441750,;NBAS,synonymous_variant,p.%3D,ENST00000281513,;	1937	306	313	SUCCESS
DDX1	1653	.	GRCh37	2	15768807	15768807	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1450410081	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	161	0	ENST00000233084.3:c.1805G>A	p.Arg602Gln	p.R602Q	ENST00000233084	NM_004939.2	602	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS1686.1	1805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCGAATTG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF211,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000370745	.	23/27	.	.	.	.	.	.	.	.	COSM4085792	23/27	PASS	ENST00000381341	Transcript	.	.	ENSG00000079785	2734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	DDX1_HUMAN	DDX1	HGNC	B4DME8_HUMAN,A3RJH1_HUMAN	.	UPI00001290D1	SNV	DDX1,missense_variant,p.Arg602Gln,ENST00000381341,;DDX1,missense_variant,p.Arg602Gln,ENST00000233084,;DDX1,non_coding_transcript_exon_variant,,ENST00000470674,;DDX1,downstream_gene_variant,,ENST00000478695,;	2194	161	141	SUCCESS
PKP4	8502	.	GRCh37	2	159526240	159526240	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	69	252	0	ENST00000389759.3:c.2737G>A	p.Ala913Thr	p.A913T	ENST00000389759	NM_003628.3	913	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33305.1	2737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACGCCATG	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000374409	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000389759	Transcript	.	.	ENSG00000144283	9026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PKP4_HUMAN	PKP4	HGNC	Q53TM5_HUMAN	.	UPI000044D379	SNV	PKP4,missense_variant,p.Ala913Thr,ENST00000389759,;PKP4,missense_variant,p.Ala913Thr,ENST00000389757,;AC005042.4,intron_variant,,ENST00000342892,;PKP4,downstream_gene_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,non_coding_transcript_exon_variant,,ENST00000486254,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,downstream_gene_variant,,ENST00000483881,;	2849	252	108	SUCCESS
MYCN	4613	.	GRCh37	2	16082705	16082705	+	synonymous_variant	Silent	SNP	C	C	T	rs748728413	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	86	0	ENST00000281043.3:c.519C>T	p.Ala173=	p.A173=	ENST00000281043	NM_005378.4	173	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1687.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCGCCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11514:SF3,hmmpanther:PTHR11514,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705	.	.	ENSP00000281043	.	2/3	.	.	.	.	.	.	.	.	rs748728413	2/3	PASS	ENST00000281043	Transcript	.	.	ENSG00000134323	7559	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCN_HUMAN	MYCN	HGNC	Q9UMQ5_HUMAN,Q7Z7Q9_HUMAN,Q53XS5_HUMAN	.	UPI000012FAF8	SNV	MYCN,synonymous_variant,p.%3D,ENST00000281043,;MYCNOS,upstream_gene_variant,,ENST00000448719,;MYCNOS,upstream_gene_variant,,ENST00000439180,;MYCNOS,upstream_gene_variant,,ENST00000453400,;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000420452,;	816	86	75	SUCCESS
COBLL1	22837	.	GRCh37	2	165556006	165556006	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	33	71	0	ENST00000392717.2:c.1695A>C	p.Glu565Asp	p.E565D	ENST00000392717		565	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS2223.2	1581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGTTCTCT	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	tolerated(0.15)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Glu488Asp,ENST00000375458,;COBLL1,missense_variant,p.Glu526Asp,ENST00000409184,;COBLL1,missense_variant,p.Glu527Asp,ENST00000342193,;COBLL1,missense_variant,p.Glu565Asp,ENST00000392717,;COBLL1,missense_variant,p.Glu593Asp,ENST00000194871,;COBLL1,upstream_gene_variant,,ENST00000493713,;COBLL1,downstream_gene_variant,,ENST00000491126,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,downstream_gene_variant,,ENST00000460238,;COBLL1,upstream_gene_variant,,ENST00000489955,;COBLL1,downstream_gene_variant,,ENST00000456171,;	1797	71	38	SUCCESS
SCN1A	6323	.	GRCh37	2	166850833	166850833	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	11	205	0	ENST00000303395.4:c.4675A>C	p.Met1559Leu	p.M1559L	ENST00000303395		1559	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS54413.1	4675	MUTECT|MUSE|VARSCANS	.	CACCATCATTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000303540	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.434)	.	deleterious(0)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Met1559Leu,ENST00000303395,;SCN1A,missense_variant,p.Met1548Leu,ENST00000375405,;SCN1A,missense_variant,p.Met1559Leu,ENST00000423058,;SCN1A,missense_variant,p.Met1531Leu,ENST00000409050,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000595647,;SCN1A,downstream_gene_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;	4675	205	117	SUCCESS
SCN1A	6323	.	GRCh37	2	166850895	166850895	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	182	0	ENST00000303395.4:c.4613T>C	p.Val1538Ala	p.V1538A	ENST00000303395		1538	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS54413.1	4613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTACGAAG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	.	ENSP00000303540	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	deleterious(0.01)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Val1538Ala,ENST00000303395,;SCN1A,missense_variant,p.Val1527Ala,ENST00000375405,;SCN1A,missense_variant,p.Val1538Ala,ENST00000423058,;SCN1A,missense_variant,p.Val1510Ala,ENST00000409050,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000595647,;SCN1A,downstream_gene_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;	4613	182	87	SUCCESS
PXDN	7837	.	GRCh37	2	1670259	1670259	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	70	175	0	ENST00000252804.4:c.1019-1G>A		p.X340_splice	ENST00000252804	NM_012293.1	340		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46221.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGCTGTCA	NONE	.	.	.	.	.	ENSP00000252804	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	HIGH	9/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,splice_acceptor_variant,,ENST00000252804,;PXDN,splice_acceptor_variant,,ENST00000433670,;PXDN,splice_acceptor_variant,,ENST00000477810,;PXDN,splice_acceptor_variant,,ENST00000467191,;PXDN,splice_acceptor_variant,,ENST00000483018,;PXDN,splice_acceptor_variant,,ENST00000478155,;	.	175	157	SUCCESS
XIRP2	129446	.	GRCh37	2	168103817	168103817	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751481404	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	62	234	0	ENST00000409195.1:c.5915A>G	p.Asn1972Ser	p.N1972S	ENST00000409195	NM_152381.5	1972	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42769.1	5915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAACAAAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs751481404	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Asn1750Ser,ENST00000409273,;XIRP2,missense_variant,p.Asn1972Ser,ENST00000409195,;XIRP2,missense_variant,p.Asn1972Ser,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	6004	234	159	SUCCESS
FASTKD1	79675	.	GRCh37	2	170396679	170396679	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	227	496	1	ENST00000453153.2:c.1827T>A	p.Asp609Glu	p.D609E	ENST00000453153	NM_024622.4	609	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS33318.1	1827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGATCCAA	NONE	.	.	hmmpanther:PTHR21228:SF29,hmmpanther:PTHR21228,Pfam_domain:PF06743	.	.	ENSP00000400513	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000453153	Transcript	.	.	ENSG00000138399	26150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.47)	.	FAKD1_HUMAN	FASTKD1	HGNC	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN	.	UPI000050BC4D	SNV	FASTKD1,missense_variant,p.Asp609Glu,ENST00000453929,;FASTKD1,missense_variant,p.Asp609Glu,ENST00000453153,;FASTKD1,upstream_gene_variant,,ENST00000495505,;FASTKD1,upstream_gene_variant,,ENST00000490590,;FASTKD1,upstream_gene_variant,,ENST00000488516,;	2174	498	321	SUCCESS
FASTKD1	79675	.	GRCh37	2	170403008	170403008	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs540349050	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	105	252	1	ENST00000453153.2:c.1421C>T	p.Ala474Val	p.A474V	ENST00000453153	NM_024622.4	474	gCg/gTg	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS33318.1	1421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCGCAGTC	NONE	by1000G	.	hmmpanther:PTHR21228:SF29,hmmpanther:PTHR21228	A:0.001	.	ENSP00000400513	A:0	8/15	.	.	.	.	.	.	.	.	rs540349050	8/15	PASS	ENST00000453153	Transcript	.	A:0.0002	ENSG00000138399	26150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	A:0	deleterious(0.03)	.	FAKD1_HUMAN	FASTKD1	HGNC	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN	.	UPI000050BC4D	SNV	FASTKD1,missense_variant,p.Ala474Val,ENST00000453929,;FASTKD1,missense_variant,p.Ala474Val,ENST00000453153,;	1768	253	139	SUCCESS
KIAA1715	0	.	GRCh37	2	176802232	176802232	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	90	0	ENST00000272748.4:c.894T>C	p.Cys298=	p.C298=	ENST00000272748	NM_030650.1	298	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS33332.1	894	MUTECT|MUSE|VARSCANS	.	TAGGCACATCG	NONE	.	.	Pfam_domain:PF10058,hmmpanther:PTHR22166	.	.	ENSP00000272748	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000272748	Transcript	.	.	ENSG00000144320	21610	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LNP_HUMAN	KIAA1715	HGNC	C9JM95_HUMAN	.	UPI00001C1DB7	SNV	KIAA1715,synonymous_variant,p.%3D,ENST00000544803,;KIAA1715,synonymous_variant,p.%3D,ENST00000272748,;KIAA1715,synonymous_variant,p.%3D,ENST00000409660,;KIAA1715,synonymous_variant,p.%3D,ENST00000535310,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000475515,;KIAA1715,missense_variant,p.Cys50Arg,ENST00000431754,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000480788,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000479012,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000489827,;	1142	90	53	SUCCESS
TTN	7273	.	GRCh37	2	179411087	179411087	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781088841	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	24	71	0	ENST00000591111.1:c.90048T>A	p.Asp30016Glu	p.D30016E	ENST00000591111		30016	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS59435.1	94971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGATCTAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	342/363	.	.	.	.	.	.	.	.	rs781088841	342/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp22717Glu,ENST00000359218,;TTN,missense_variant,p.Asp30016Glu,ENST00000591111,;TTN,missense_variant,p.Asp31657Glu,ENST00000589042,;TTN,missense_variant,p.Asp22784Glu,ENST00000342175,;TTN,missense_variant,p.Asp29089Glu,ENST00000342992,;TTN,missense_variant,p.Asp22592Glu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;	95196	71	36	SUCCESS
ITGA4	3676	.	GRCh37	2	182399041	182399041	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	177	499	1	ENST00000397033.2:c.2827T>C	p.Phe943Leu	p.F943L	ENST00000397033	NM_000885.4	943	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS42788.1	2827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTTTTCCA	NONE	.	.	hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Superfamily_domains:SSF69179	.	.	ENSP00000380227	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.69)	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,missense_variant,p.Phe943Leu,ENST00000397033,;CERKL,downstream_gene_variant,,ENST00000409440,;CERKL,downstream_gene_variant,,ENST00000374970,;CERKL,downstream_gene_variant,,ENST00000339098,;CERKL,downstream_gene_variant,,ENST00000410087,;CERKL,downstream_gene_variant,,ENST00000374969,;CERKL,downstream_gene_variant,,ENST00000374967,;CERKL,downstream_gene_variant,,ENST00000494398,;CERKL,downstream_gene_variant,,ENST00000421817,;CERKL,downstream_gene_variant,,ENST00000452174,;	3257	500	260	SUCCESS
FAM171B	165215	.	GRCh37	2	187626496	187626496	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	9	125	0	ENST00000304698.5:c.1427A>G	p.Asn476Ser	p.N476S	ENST00000304698	NM_177454.3	476	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33347.1	1427	MUTECT|MUSE	.	AAATAATTACT	NONE	.	.	Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2	.	.	ENSP00000304108	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000304698	Transcript	.	.	ENSG00000144369	29412	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.88)	.	F171B_HUMAN	FAM171B	HGNC	A8K122_HUMAN	.	UPI0000161631	SNV	FAM171B,missense_variant,p.Asn476Ser,ENST00000304698,;	1630	125	119	SUCCESS
TFPI	7035	.	GRCh37	2	188343466	188343466	+	intron_variant	Intron	SNP	G	G	A	rs6722616	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	75	0	ENST00000233156.3:c.628+5385C>T		p.*210*	ENST00000233156	NM_006287.4			0	A:0.0186	A:0.0189	.	A:0.0029	.	A	.	protein_coding	YES	CCDS2294.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCGTTCAG	NONE	byFrequency|byCluster|byHapMap|by1000G	.	.	A:0	A:0	ENSP00000233156	A:0	.	.	.	.	.	.	.	.	.	rs6722616	.	common_in_exac	ENST00000233156	Transcript	.	A:0.0054	ENSG00000003436	11760	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TFPI1_HUMAN	TFPI	HGNC	C9JT76_HUMAN,C9JQ14_HUMAN,C9JP39_HUMAN,C9JBB3_HUMAN,C9J103_HUMAN	.	UPI0000136C8F	SNV	TFPI,synonymous_variant,p.%3D,ENST00000339091,;TFPI,synonymous_variant,p.%3D,ENST00000409676,;TFPI,intron_variant,,ENST00000426055,;TFPI,intron_variant,,ENST00000435414,;TFPI,intron_variant,,ENST00000392365,;TFPI,intron_variant,,ENST00000233156,;AC007319.1,intron_variant,,ENST00000453517,;AC007319.1,intron_variant,,ENST00000412276,;TFPI,intron_variant,,ENST00000481132,;	.	75	87	SUCCESS
SLC40A1	30061	.	GRCh37	2	190426694	190426694	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	93	208	0	ENST00000261024.2:c.1626C>T	p.Ala542=	p.A542=	ENST00000261024	NM_014585.5	542	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2299.1	1626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGGCAAA	NONE	.	.	hmmpanther:PTHR11660:SF47,hmmpanther:PTHR11660,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000261024	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261024	Transcript	.	.	ENSG00000138449	10909	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S40A1_HUMAN	SLC40A1	HGNC	Q4PNE6_HUMAN,E7ES28_HUMAN,E7EQF8_HUMAN	.	UPI0000034CC2	SNV	SLC40A1,synonymous_variant,p.%3D,ENST00000261024,;SLC40A1,downstream_gene_variant,,ENST00000427241,;	2053	208	227	SUCCESS
ANKAR	150709	.	GRCh37	2	190585420	190585420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755839623	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	111	0	ENST00000313581.4:c.2542C>T	p.Arg848Trp	p.R848W	ENST00000313581		848	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33351.2	2542	MUTECT|MUSE	.	GTATACGGGTA	NONE	byFrequency	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62	.	.	ENSP00000427882	.	12/23	.	.	.	.	.	.	.	.	rs755839623	12/23	PASS	ENST00000520309	Transcript	.	.	ENSG00000151687	26350	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.217)	.	deleterious(0.01)	.	ANKAR_HUMAN	ANKAR	HGNC	J3KQB7_HUMAN	.	UPI00001D7E11	SNV	ANKAR,missense_variant,p.Arg612Trp,ENST00000281412,;ANKAR,missense_variant,p.Arg848Trp,ENST00000313581,;ANKAR,missense_variant,p.Arg848Trp,ENST00000438402,;ANKAR,missense_variant,p.Arg777Trp,ENST00000431575,;ANKAR,missense_variant,p.Arg848Trp,ENST00000520309,;ANKAR,downstream_gene_variant,,ENST00000464687,;ANKAR,missense_variant,p.Arg612Trp,ENST00000441800,;ANKAR,missense_variant,p.Arg777Trp,ENST00000433782,;	2630	111	103	SUCCESS
C2orf88	84281	.	GRCh37	2	191064799	191064799	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	111	0	ENST00000340623.4:c.213T>C	p.Cys71=	p.C71=	ENST00000340623	NM_001042519.1	71	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS42792.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGTGATGC	NONE	.	.	Pfam_domain:PF15127	.	.	ENSP00000345107	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340623	Transcript	.	.	ENSG00000187699	28191	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAKA_HUMAN	C2orf88	HGNC	H7BZ15_HUMAN,C9JS57_HUMAN	.	UPI000013D122	SNV	C2orf88,synonymous_variant,p.%3D,ENST00000409870,;C2orf88,synonymous_variant,p.%3D,ENST00000443551,;C2orf88,synonymous_variant,p.%3D,ENST00000396974,;C2orf88,synonymous_variant,p.%3D,ENST00000340623,;HIBCH,intron_variant,,ENST00000399855,;HIBCH,downstream_gene_variant,,ENST00000359678,;HIBCH,downstream_gene_variant,,ENST00000392332,;C2orf88,downstream_gene_variant,,ENST00000450357,;C2orf88,downstream_gene_variant,,ENST00000409545,;HIBCH,downstream_gene_variant,,ENST00000410045,;HIBCH,downstream_gene_variant,,ENST00000486981,;C2orf88,downstream_gene_variant,,ENST00000490033,;	624	111	106	SUCCESS
NAB1	4664	.	GRCh37	2	191524471	191524471	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769154499	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	89	206	0	ENST00000337386.5:c.569C>T	p.Ala190Val	p.A190V	ENST00000337386	NM_005966.3	190	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2307.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCGCTGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12623:SF9,hmmpanther:PTHR12623,Pfam_domain:PF04905	.	.	ENSP00000336894	.	4/10	.	.	.	.	.	.	.	.	rs769154499	4/10	PASS	ENST00000337386	Transcript	.	.	ENSG00000138386	7626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.71)	.	NAB1_HUMAN	NAB1	HGNC	C9JL92_HUMAN,C9JJ42_HUMAN,C9JID4_HUMAN,C9JFF6_HUMAN,C9J3V0_HUMAN	.	UPI0000001C43	SNV	NAB1,missense_variant,p.Ala190Val,ENST00000409581,;NAB1,missense_variant,p.Ala190Val,ENST00000337386,;NAB1,missense_variant,p.Ala190Val,ENST00000357215,;NAB1,missense_variant,p.Ala190Val,ENST00000409641,;NAB1,downstream_gene_variant,,ENST00000423076,;NAB1,downstream_gene_variant,,ENST00000448811,;NAB1,upstream_gene_variant,,ENST00000545490,;NAB1,upstream_gene_variant,,ENST00000434473,;NAB1,downstream_gene_variant,,ENST00000426601,;NAB1,downstream_gene_variant,,ENST00000423376,;NAB1,downstream_gene_variant,,ENST00000416973,;NAB1,upstream_gene_variant,,ENST00000484774,;	1030	206	233	SUCCESS
GTF3C3	9330	.	GRCh37	2	197653948	197653948	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	44	149	0	ENST00000263956.3:c.873G>A	p.Gln291=	p.Q291=	ENST00000263956	NM_012086.4	291	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS2316.1	873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCTGCAT	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23082,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000263956	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000263956	Transcript	.	.	ENSG00000119041	4666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C3_HUMAN	GTF3C3	HGNC	.	.	UPI0000070C01	SNV	GTF3C3,synonymous_variant,p.%3D,ENST00000409364,;GTF3C3,synonymous_variant,p.%3D,ENST00000263956,;GTF3C3,upstream_gene_variant,,ENST00000448087,;GTF3C3,non_coding_transcript_exon_variant,,ENST00000470386,;GTF3C3,downstream_gene_variant,,ENST00000448539,;GTF3C3,downstream_gene_variant,,ENST00000451088,;GTF3C3,downstream_gene_variant,,ENST00000455546,;	963	149	131	SUCCESS
PGAP1	80055	.	GRCh37	2	197712615	197712615	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	49	0	ENST00000354764.4:c.1952+56A>T		p.*651*	ENST00000354764	NM_024989.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2318.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATATAAT	NONE	.	.	.	.	.	ENSP00000346809	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354764	Transcript	.	.	ENSG00000197121	25712	.	.	MODIFIER	21/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	SNV	PGAP1,3_prime_UTR_variant,,ENST00000409475,;PGAP1,intron_variant,,ENST00000354764,;PGAP1,upstream_gene_variant,,ENST00000422444,;PGAP1,non_coding_transcript_exon_variant,,ENST00000470179,;PGAP1,intron_variant,,ENST00000423035,;	.	49	47	SUCCESS
SF3B1	23451	.	GRCh37	2	198270138	198270138	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	262	195	452	1	ENST00000335508.6:c.1298C>G	p.Ala433Gly	p.A433G	ENST00000335508	NM_012433.2	433	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS33356.1	1298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTAGCTGTC	NONE	.	.	hmmpanther:PTHR12097,Pfam_domain:PF08920	.	.	ENSP00000335321	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.22)	.	tolerated(0.06)	.	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Ala433Gly,ENST00000335508,;SNORA4,downstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,downstream_gene_variant,,ENST00000470268,;SF3B1,downstream_gene_variant,,ENST00000468925,;	1390	454	458	SUCCESS
KCTD18	130535	.	GRCh37	2	201355178	201355178	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs543025211	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	68	0	ENST00000359878.3:c.926C>T	p.Ala309Val	p.A309V	ENST00000359878	NM_152387.2	309	gCg/gTg	0	.	A:0.0008	.	A:0	.	A	A/V	protein_coding	YES	CCDS2330.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGCCCCA	BUFFER|p.T305T|c.915G>A|3	by1000G	.	.	A:0	.	ENSP00000352941	A:0	7/7	.	.	.	.	.	.	.	.	rs543025211,COSM4090087	7/7	PASS	ENST00000359878	Transcript	.	A:0.0002	ENSG00000155729	26446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	A:0	tolerated_low_confidence(0.61)	0,1	KCD18_HUMAN	KCTD18	HGNC	.	.	UPI0000209355	SNV	KCTD18,missense_variant,p.Ala309Val,ENST00000359878,;KCTD18,missense_variant,p.Ala309Val,ENST00000409157,;KCTD18,downstream_gene_variant,,ENST00000468413,;	1437	68	48	SUCCESS
CARF	79800	.	GRCh37	2	203846349	203846349	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773527326	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	360	208	652	2	ENST00000402905.3:c.1630C>T	p.Pro544Ser	p.P544S	ENST00000402905	NM_001104586.1	544	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42801.1	1630	RADIA|SOMATICSNIPER|VARSCANS	.	CTGAGCCAACC	NONE	byFrequency	.	hmmpanther:PTHR14694,hmmpanther:PTHR14694:SF1	.	.	ENSP00000384006	.	14/16	.	.	.	.	.	.	.	.	rs773527326	14/16	PASS	ENST00000402905	Transcript	.	.	ENSG00000138380	14435	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.02)	.	tolerated(0.64)	.	CARTF_HUMAN	CARF	HGNC	C9JT99_HUMAN,C9JZI6_HUMAN,C9JZ91_HUMAN,C9JSN4_HUMAN,C9JL40_HUMAN,C9JI92_HUMAN,C9JCD6_HUMAN,C9JBK9_HUMAN	.	UPI000007284D	SNV	CARF,missense_variant,p.Pro544Ser,ENST00000320443,;CARF,missense_variant,p.Pro456Ser,ENST00000545253,;CARF,missense_variant,p.Pro544Ser,ENST00000438828,;CARF,missense_variant,p.Pro468Ser,ENST00000428585,;CARF,missense_variant,p.Pro544Ser,ENST00000402905,;CARF,missense_variant,p.Pro442Ser,ENST00000414439,;CARF,missense_variant,p.Pro468Ser,ENST00000545262,;WDR12,intron_variant,,ENST00000477723,;	1951	654	568	SUCCESS
ABI2	10152	.	GRCh37	2	204281668	204281668	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	65	0	ENST00000295851.5:c.1230A>G	p.Glu410=	p.E410=	ENST00000295851	NM_001282925.1	410	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS2358.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAACCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10460:SF3,hmmpanther:PTHR10460	.	.	ENSP00000261017	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000261017	Transcript	.	.	ENSG00000138443	24011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABI2_HUMAN	ABI2	HGNC	Q53SH3_HUMAN,Q53RS4_HUMAN,B7ZAM8_HUMAN	.	UPI0000070712	SNV	ABI2,synonymous_variant,p.%3D,ENST00000261017,;ABI2,synonymous_variant,p.%3D,ENST00000430418,;ABI2,synonymous_variant,p.%3D,ENST00000422511,;ABI2,synonymous_variant,p.%3D,ENST00000417864,;ABI2,synonymous_variant,p.%3D,ENST00000261016,;ABI2,synonymous_variant,p.%3D,ENST00000261018,;ABI2,synonymous_variant,p.%3D,ENST00000295851,;ABI2,synonymous_variant,p.%3D,ENST00000424558,;ABI2,synonymous_variant,p.%3D,ENST00000454023,;RAPH1,intron_variant,,ENST00000457812,;ABI2,non_coding_transcript_exon_variant,,ENST00000422719,;ABI2,non_coding_transcript_exon_variant,,ENST00000416396,;ABI2,non_coding_transcript_exon_variant,,ENST00000430574,;ABI2,non_coding_transcript_exon_variant,,ENST00000464761,;ABI2,3_prime_UTR_variant,,ENST00000441061,;ABI2,3_prime_UTR_variant,,ENST00000416001,;	1351	65	75	SUCCESS
ZDBF2	57683	.	GRCh37	2	207171520	207171520	+	synonymous_variant	Silent	SNP	G	G	A	rs763427850	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	70	0	ENST00000374423.3:c.2268G>A	p.Pro756=	p.P756=	ENST00000374423	NM_020923.1	756	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46501.1	2268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGCCTCT	NONE	byFrequency	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	rs763427850,COSM4090528,COSM4090529	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,synonymous_variant,p.%3D,ENST00000374423,;	2654	70	70	SUCCESS
FZD5	7855	.	GRCh37	2	208632983	208632984	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs1413162495	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	21	0	ENST00000295417.3:c.480dup	p.Arg161GlnfsTer108	p.R161Qfs*108	ENST00000295417	NM_003468.3	160	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS33366.1	480-481	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCCTGGGGG	NONE	.	.	hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF29	.	.	ENSP00000354607	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295417	Transcript	.	.	ENSG00000163251	4043	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FZD5_HUMAN	FZD5	HGNC	.	.	UPI000013E255	insertion	FZD5,frameshift_variant,p.Arg161GlnfsTer108,ENST00000295417,;	1034-1035	21	30	SUCCESS
PLEKHM3	389072	.	GRCh37	2	208725985	208725985	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	52	102	0	ENST00000427836.2:c.1952T>C	p.Val651Ala	p.V651A	ENST00000427836	NM_001080475.2	651	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS42808.1	1952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTACCTGC	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF10,Pfam_domain:PF13901	.	.	ENSP00000417003	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000427836	Transcript	.	.	ENSG00000178385	34006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.478)	.	deleterious(0)	.	PKHM3_HUMAN	PLEKHM3	HGNC	.	.	UPI0000DBEE58	SNV	PLEKHM3,missense_variant,p.Val651Ala,ENST00000427836,;PLEKHM3,missense_variant,p.Val651Ala,ENST00000389247,;PLEKHM3,missense_variant,p.Val403Ala,ENST00000447645,;	2442	102	105	SUCCESS
CRYGC	1420	.	GRCh37	2	208992994	208992994	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756143605	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	42	118	0	ENST00000282141.3:c.458G>A	p.Arg153Gln	p.R153Q	ENST00000282141	NM_020989.3	153	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS2379.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCGCCTG	NONE	byFrequency	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF32,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367	.	.	ENSP00000282141	.	3/3	.	.	.	.	.	.	.	.	rs756143605	3/3	PASS	ENST00000282141	Transcript	.	.	ENSG00000163254	2410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	deleterious(0.04)	.	CRGC_HUMAN	CRYGC	HGNC	.	.	UPI000013DCBD	SNV	CRYGC,missense_variant,p.Arg153Gln,ENST00000282141,;CRYGD,upstream_gene_variant,,ENST00000264376,;	496	118	130	SUCCESS
RPE	6120	.	GRCh37	2	210880965	210880965	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	85	0	ENST00000359429.6:c.342+129G>A		p.*114*	ENST00000359429	NM_199229.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2388.1	.	MUTECT|MUSE	.	GCACAGTCAGG	NONE	.	.	.	.	.	ENSP00000352401	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359429	Transcript	.	.	ENSG00000197713	10293	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPE_HUMAN	RPE	HGNC	C9JPQ7_HUMAN,C9JCL8_HUMAN,C9J6A7_HUMAN	.	UPI0000037A9A	SNV	RPE,missense_variant,p.Ser59Asn,ENST00000453724,;RPE,missense_variant,p.Ser59Asn,ENST00000438265,;RPE,missense_variant,p.Ser59Asn,ENST00000454822,;RPE,missense_variant,p.Ser59Asn,ENST00000429921,;RPE,missense_variant,p.Ser101Asn,ENST00000354506,;RPE,missense_variant,p.Ser59Asn,ENST00000436630,;RPE,intron_variant,,ENST00000441588,;RPE,intron_variant,,ENST00000435437,;RPE,intron_variant,,ENST00000429907,;RPE,intron_variant,,ENST00000452025,;RPE,intron_variant,,ENST00000359429,;RPE,intron_variant,,ENST00000445268,;RPE,intron_variant,,ENST00000438204,;RPE,intron_variant,,ENST00000408981,;RPE,intron_variant,,ENST00000411934,;RPE,intron_variant,,ENST00000540255,;RPE,intron_variant,,ENST00000438191,;	.	85	79	SUCCESS
CPS1	1373	.	GRCh37	2	211421371	211421371	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	49	143	0	ENST00000233072.5:c.-87A>T		p.*29*	ENST00000233072	NM_001875.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46505.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGATTTCT	NONE	.	.	.	.	.	ENSP00000402608	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODIFIER	1/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,5_prime_UTR_variant,,ENST00000233072,;CPS1,intron_variant,,ENST00000417946,;CPS1,intron_variant,,ENST00000430249,;CPS1,intron_variant,,ENST00000518043,;CPS1,intron_variant,,ENST00000523702,;	.	143	94	SUCCESS
APOB	338	.	GRCh37	2	21225513	21225514	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	115	40	136	0	ENST00000233242.1:c.12780_12781del	p.His4260GlnfsTer10	p.H4260Qfs*10	ENST00000233242	NM_000384.2	4260	caTAaa/caaa	0	.	.	.	.	.	-	HK/QX	protein_coding	YES	CCDS1703.1	12780-12781	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAGTTTATGTTT	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.His4260GlnfsTer10,ENST00000233242,;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	12908-12909	136	155	SUCCESS
APOB	338	.	GRCh37	2	21265319	21265319	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	54	146	0	ENST00000233242.1:c.151A>G	p.Lys51Glu	p.K51E	ENST00000233242	NM_000384.2	51	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS1703.1	151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTTCCGGA	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF01347,Gene3D:1lshA01,SMART_domains:SM00638,Superfamily_domains:SSF56968	.	.	ENSP00000233242	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Lys51Glu,ENST00000233242,;APOB,missense_variant,p.Lys51Glu,ENST00000399256,;	279	146	128	SUCCESS
ABCA12	26154	.	GRCh37	2	215852484	215852484	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1423599488	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	88	250	0	ENST00000272895.7:c.3863C>T	p.Pro1288Leu	p.P1288L	ENST00000272895	NM_173076.2	1288	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33372.1	3863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGGAAAA	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	27/53	.	.	.	.	.	.	.	.	.	27/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.05)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Pro970Leu,ENST00000389661,;ABCA12,missense_variant,p.Pro1288Leu,ENST00000272895,;	4083	250	220	SUCCESS
ATIC	471	.	GRCh37	2	216197219	216197219	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	80	0	ENST00000236959.9:c.803T>C	p.Val268Ala	p.V268A	ENST00000236959	NM_004044.6	268	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2398.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTCAGCC	NONE	.	.	Superfamily_domains:SSF53927,SMART_domains:SM00798,PIRSF_domain:PIRSF000414,Pfam_domain:PF01808,Gene3D:3.40.140.20,TIGRFAM_domain:TIGR00355,hmmpanther:PTHR11692	.	.	ENSP00000236959	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000236959	Transcript	.	.	ENSG00000138363	794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.04)	.	PUR9_HUMAN	ATIC	HGNC	F5GWY2_HUMAN,C9JLK0_HUMAN	.	UPI000000122D	SNV	ATIC,missense_variant,p.Val268Ala,ENST00000236959,;ATIC,missense_variant,p.Val267Ala,ENST00000435675,;ATIC,missense_variant,p.Val209Ala,ENST00000540518,;ATIC,upstream_gene_variant,,ENST00000426233,;ATIC,upstream_gene_variant,,ENST00000446622,;ATIC,3_prime_UTR_variant,,ENST00000443953,;ATIC,3_prime_UTR_variant,,ENST00000427397,;	1129	80	59	SUCCESS
FN1	2335	.	GRCh37	2	216259426	216259426	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	54	0	ENST00000359671.1:c.3621A>T	p.Arg1207Ser	p.R1207S	ENST00000359671		1207	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS42814.1	3621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATTCTATA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	24/46	.	.	.	.	.	.	.	.	.	24/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Arg1207Ser,ENST00000357867,;FN1,missense_variant,p.Arg1207Ser,ENST00000432072,;FN1,missense_variant,p.Arg1207Ser,ENST00000421182,;FN1,missense_variant,p.Arg1207Ser,ENST00000443816,;FN1,missense_variant,p.Arg1207Ser,ENST00000346544,;FN1,missense_variant,p.Arg1207Ser,ENST00000345488,;FN1,missense_variant,p.Arg1207Ser,ENST00000354785,;FN1,missense_variant,p.Arg1207Ser,ENST00000336916,;FN1,missense_variant,p.Arg1207Ser,ENST00000359671,;FN1,missense_variant,p.Arg1207Ser,ENST00000357009,;FN1,missense_variant,p.Arg1207Ser,ENST00000446046,;FN1,missense_variant,p.Arg1207Ser,ENST00000323926,;FN1,missense_variant,p.Arg1207Ser,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000492816,;	3991	54	69	SUCCESS
MARCH4	0	.	GRCh37	2	217124185	217124186	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	31	108	0	ENST00000273067.4:c.1082dup	p.Ala362CysfsTer31	p.A362Cfs*31	ENST00000273067	NM_020814.2	361	cct/ccCt	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS33376.1	1082-1083	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCAGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23012:SF51,hmmpanther:PTHR23012	.	.	ENSP00000273067	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000273067	Transcript	.	.	ENSG00000144583	29269	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MARH4_HUMAN	MARCH4	HGNC	.	.	UPI00001C1DB9	insertion	MARCH4,frameshift_variant,p.Ala362CysfsTer31,ENST00000273067,;AC012513.6,upstream_gene_variant,,ENST00000417481,;	2849-2850	108	112	SUCCESS
C2orf62	0	.	GRCh37	2	219222348	219222348	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	71	0	ENST00000289388.3:c.210G>A	p.Val70=	p.V70=	ENST00000289388	NM_198559.1	70	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2414.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGCAGAG	NONE	.	.	hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2	.	.	ENSP00000289388	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000289388	Transcript	.	.	ENSG00000158428	25062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB062_HUMAN	C2orf62	HGNC	.	.	UPI000019B2D3	SNV	C2orf62,synonymous_variant,p.%3D,ENST00000289388,;AC021016.8,intron_variant,,ENST00000411433,;C2orf62,upstream_gene_variant,,ENST00000481940,;C2orf62,non_coding_transcript_exon_variant,,ENST00000480532,;C2orf62,non_coding_transcript_exon_variant,,ENST00000495773,;AC021016.7,downstream_gene_variant,,ENST00000414167,;	239	71	53	SUCCESS
STK36	27148	.	GRCh37	2	219563382	219563382	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751887210	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	100	0	ENST00000295709.3:c.3115C>T	p.Arg1039Cys	p.R1039C	ENST00000295709	NM_015690.4	1039	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2421.1	3115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACGCCTG	NONE	.	.	hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983	.	.	ENSP00000295709	.	26/27	.	.	.	.	.	.	.	.	rs751887210	26/27	PASS	ENST00000295709	Transcript	.	.	ENSG00000163482	17209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	STK36_HUMAN	STK36	HGNC	C9JDA4_HUMAN,C9J1B8_HUMAN	.	UPI00000342FC	SNV	STK36,missense_variant,p.Arg1018Cys,ENST00000392105,;STK36,missense_variant,p.Arg1039Cys,ENST00000295709,;STK36,missense_variant,p.Arg1039Cys,ENST00000440309,;STK36,missense_variant,p.Arg1018Cys,ENST00000392106,;STK36,3_prime_UTR_variant,,ENST00000419433,;STK36,non_coding_transcript_exon_variant,,ENST00000462031,;STK36,downstream_gene_variant,,ENST00000486644,;STK36,downstream_gene_variant,,ENST00000473681,;STK36,downstream_gene_variant,,ENST00000492486,;	3394	100	109	SUCCESS
CNPPD1	27013	.	GRCh37	2	220037323	220037323	+	synonymous_variant	Silent	SNP	G	G	A	rs767238818	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	76	0	ENST00000360507.5:c.1218C>T	p.Phe406=	p.F406=	ENST00000360507	NM_015680.4	406	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS2433.1	1218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACGAAAGA	NONE	byFrequency	.	hmmpanther:PTHR15615,hmmpanther:PTHR15615:SF0	.	.	ENSP00000386277	.	9/9	.	.	.	.	.	.	.	.	rs767238818,rs769111278,COSM3577889	9/9	PASS	ENST00000409789	Transcript	.	.	ENSG00000115649	25220	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,0,1	.	.	.	.	.	0,0,1	CNPD1_HUMAN	CNPPD1	HGNC	C9JF31_HUMAN	.	UPI000013D5FA	SNV	CNPPD1,synonymous_variant,p.%3D,ENST00000409789,;CNPPD1,synonymous_variant,p.%3D,ENST00000360507,;SLC23A3,upstream_gene_variant,,ENST00000430764,;SLC23A3,upstream_gene_variant,,ENST00000409878,;SLC23A3,upstream_gene_variant,,ENST00000455516,;CNPPD1,downstream_gene_variant,,ENST00000453038,;SLC23A3,upstream_gene_variant,,ENST00000295738,;SLC23A3,upstream_gene_variant,,ENST00000396775,;CNPPD1,downstream_gene_variant,,ENST00000451647,;SLC23A3,upstream_gene_variant,,ENST00000409370,;FAM134A,upstream_gene_variant,,ENST00000458520,;SLC23A3,upstream_gene_variant,,ENST00000497918,;SLC23A3,upstream_gene_variant,,ENST00000498327,;SLC23A3,upstream_gene_variant,,ENST00000465580,;SLC23A3,upstream_gene_variant,,ENST00000421779,;SLC23A3,upstream_gene_variant,,ENST00000414999,;SLC23A3,upstream_gene_variant,,ENST00000318673,;SLC23A3,upstream_gene_variant,,ENST00000461812,;	1646	76	71	SUCCESS
ZFAND2B	130617	.	GRCh37	2	220073041	220073041	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	41	177	0	ENST00000289528.5:c.498A>G	p.Gln166=	p.Q166=	ENST00000289528	NM_001270999.1	166	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS2435.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAAACCAT	NONE	.	.	hmmpanther:PTHR14677:SF13,hmmpanther:PTHR14677	.	.	ENSP00000289528	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000289528	Transcript	.	.	ENSG00000158552	25206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFN2B_HUMAN	ZFAND2B	HGNC	C9J1R6_HUMAN,B8ZZ56_HUMAN	.	UPI000004CC12	SNV	ZFAND2B,synonymous_variant,p.%3D,ENST00000409206,;ZFAND2B,synonymous_variant,p.%3D,ENST00000422255,;ZFAND2B,synonymous_variant,p.%3D,ENST00000444522,;ZFAND2B,synonymous_variant,p.%3D,ENST00000409217,;ZFAND2B,synonymous_variant,p.%3D,ENST00000409594,;ZFAND2B,synonymous_variant,p.%3D,ENST00000409336,;ZFAND2B,synonymous_variant,p.%3D,ENST00000409097,;ZFAND2B,synonymous_variant,p.%3D,ENST00000289528,;ZFAND2B,downstream_gene_variant,,ENST00000409319,;ABCB6,downstream_gene_variant,,ENST00000265316,;ZFAND2B,downstream_gene_variant,,ENST00000436556,;ABCB6,downstream_gene_variant,,ENST00000439002,;ZFAND2B,downstream_gene_variant,,ENST00000409412,;ZFAND2B,upstream_gene_variant,,ENST00000425849,;ABCB6,downstream_gene_variant,,ENST00000295750,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000469596,;ZFAND2B,downstream_gene_variant,,ENST00000468301,;ZFAND2B,3_prime_UTR_variant,,ENST00000448496,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000475533,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000486734,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000464902,;ABCB6,downstream_gene_variant,,ENST00000448398,;ABCB6,downstream_gene_variant,,ENST00000497882,;ABCB6,downstream_gene_variant,,ENST00000485773,;ABCB6,downstream_gene_variant,,ENST00000487380,;ZFAND2B,downstream_gene_variant,,ENST00000489197,;ABCB6,downstream_gene_variant,,ENST00000443805,;ZFAND2B,downstream_gene_variant,,ENST00000476713,;ABCB6,downstream_gene_variant,,ENST00000492543,;ATG9A,downstream_gene_variant,,ENST00000446716,;	693	177	137	SUCCESS
TUBA4A	7277	.	GRCh37	2	220115838	220115838	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	84	0	ENST00000248437.4:c.583C>A	p.Leu195Met	p.L195M	ENST00000248437	NM_006000.2	195	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS2438.1	583	MUTECT|MUSE|VARSCANS	.	CTCCAGGGTGG	NONE	.	.	Prints_domain:PR01161,Superfamily_domains:SSF52490,SMART_domains:SM00864,Gene3D:3.40.50.1440,Pfam_domain:PF00091,hmmpanther:PTHR11588:SF75,hmmpanther:PTHR11588	.	.	ENSP00000248437	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000248437	Transcript	.	.	ENSG00000127824	12407	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.04)	.	TBA4A_HUMAN	TUBA4A	HGNC	C9JQ00_HUMAN,C9JEV8_HUMAN,C9JDS9_HUMAN,A8MUB1_HUMAN	.	UPI0000004129	SNV	TUBA4A,missense_variant,p.Leu180Met,ENST00000392088,;TUBA4A,missense_variant,p.Leu180Met,ENST00000427737,;TUBA4A,missense_variant,p.Leu195Met,ENST00000248437,;TUBA4A,missense_variant,p.Leu42Met,ENST00000398989,;STK16,downstream_gene_variant,,ENST00000409516,;STK16,downstream_gene_variant,,ENST00000409260,;STK16,downstream_gene_variant,,ENST00000409743,;STK16,downstream_gene_variant,,ENST00000409638,;TUBA4A,downstream_gene_variant,,ENST00000425551,;TUBA4A,downstream_gene_variant,,ENST00000456818,;STK16,downstream_gene_variant,,ENST00000396738,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4A,non_coding_transcript_exon_variant,,ENST00000498660,;TUBA4B,upstream_gene_variant,,ENST00000485041,;STK16,downstream_gene_variant,,ENST00000486813,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000473885,;STK16,downstream_gene_variant,,ENST00000496443,;TUBA4A,downstream_gene_variant,,ENST00000462806,;STK16,downstream_gene_variant,,ENST00000475696,;TUBA4A,downstream_gene_variant,,ENST00000475683,;STK16,downstream_gene_variant,,ENST00000475342,;STK16,downstream_gene_variant,,ENST00000478018,;STK16,downstream_gene_variant,,ENST00000461417,;STK16,downstream_gene_variant,,ENST00000496800,;STK16,downstream_gene_variant,,ENST00000491697,;	757	84	83	SUCCESS
PAX3	5077	.	GRCh37	2	223158717	223158717	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	27	0	ENST00000350526.4:c.586+169T>C		p.*196*	ENST00000350526	NM_181457.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2448.1	.	MUTECT|MUSE|VARSCANS	.	TTCCTAGTGTC	NONE	.	.	.	.	.	ENSP00000375921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,3_prime_UTR_variant,,ENST00000409828,;PAX3,intron_variant,,ENST00000392070,;PAX3,intron_variant,,ENST00000336840,;PAX3,intron_variant,,ENST00000258387,;PAX3,intron_variant,,ENST00000392069,;PAX3,intron_variant,,ENST00000344493,;PAX3,intron_variant,,ENST00000409551,;PAX3,intron_variant,,ENST00000350526,;CCDC140,upstream_gene_variant,,ENST00000295226,;	.	27	39	SUCCESS
TRIP12	9320	.	GRCh37	2	230652245	230652245	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	64	123	0	ENST00000283943.5:c.4746T>C	p.Val1582=	p.V1582=	ENST00000283943	NM_004238.1	1582	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS33391.1	4746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCAACTCT	NONE	.	.	Superfamily_domains:SSF56204,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	32/41	.	.	.	.	.	.	.	.	.	32/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000470302,;TRIP12,downstream_gene_variant,,ENST00000495322,;	4925	123	151	SUCCESS
NMUR1	10316	.	GRCh37	2	232393179	232393179	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745366125	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	54	90	0	ENST00000305141.4:c.553G>A	p.Val185Ile	p.V185I	ENST00000305141	NM_006056.4	185	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS2486.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACGGCCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF109,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000305877	.	2/3	.	.	.	.	.	.	.	.	rs745366125,COSM354291	2/3	PASS	ENST00000305141	Transcript	.	.	ENSG00000171596	4518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.7)	0,1	NMUR1_HUMAN	NMUR1	HGNC	.	.	UPI0000071CAE	SNV	NMUR1,missense_variant,p.Val185Ile,ENST00000305141,;	687	90	93	SUCCESS
NEU2	4759	.	GRCh37	2	233899090	233899090	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764112832	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	63	0	ENST00000233840.3:c.466A>G	p.Thr156Ala	p.T156A	ENST00000233840	NM_005383.2	156	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2501.1	466	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCACCTTT	NONE	.	.	hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	.	.	ENSP00000233840	.	2/2	.	.	.	.	.	.	.	.	rs764112832	2/2	PASS	ENST00000233840	Transcript	.	.	ENSG00000115488	7759	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NEUR2_HUMAN	NEU2	HGNC	.	.	UPI000013C98F	SNV	NEU2,missense_variant,p.Thr156Ala,ENST00000233840,;	466	63	55	SUCCESS
UGT1A10	54575	.	GRCh37	2	234545929	234545929	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs181646977	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	109	0	ENST00000344644.5:c.761G>A	p.Arg254Gln	p.R254Q	ENST00000344644	NM_019075.2	254	cGa/cAa	0	A:0.0002	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS33403.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCGAACGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756	A:0.001	A:0	ENSP00000343838	A:0	1/5	.	.	.	.	.	.	.	.	rs181646977	1/5	PASS	ENST00000344644	Transcript	.	A:0.0002	ENSG00000242515	12531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	A:0	deleterious(0.01)	.	UD110_HUMAN	UGT1A10	HGNC	Q5DT02_HUMAN,Q13406_HUMAN	.	UPI000006D7E8	SNV	UGT1A10,missense_variant,p.Arg254Gln,ENST00000373445,;UGT1A10,missense_variant,p.Arg254Gln,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;	830	109	85	SUCCESS
HDAC4	9759	.	GRCh37	2	240029867	240029867	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	52	191	0	ENST00000345617.3:c.1976A>G	p.Asp659Gly	p.D659G	ENST00000345617	NM_006037.3	659	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2529.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGTCATAC	NONE	.	.	hmmpanther:PTHR10625:SF100,hmmpanther:PTHR10625,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768	.	.	ENSP00000264606	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000345617	Transcript	.	.	ENSG00000068024	14063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	deleterious(0.02)	.	HDAC4_HUMAN	HDAC4	HGNC	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN	.	UPI000013D541	SNV	HDAC4,missense_variant,p.Asp633Gly,ENST00000541256,;HDAC4,missense_variant,p.Asp243Gly,ENST00000543185,;HDAC4,missense_variant,p.Asp659Gly,ENST00000345617,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,upstream_gene_variant,,ENST00000460235,;HDAC4,upstream_gene_variant,,ENST00000487617,;	2768	191	142	SUCCESS
HDLBP	3069	.	GRCh37	2	242174657	242174657	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	47	0	ENST00000391975.1:c.3023T>C	p.Val1008Ala	p.V1008A	ENST00000391975	NM_203346.3	1008	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS2547.1	3023	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGACATGT	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000375836	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000391975	Transcript	.	.	ENSG00000115677	4857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	VIGLN_HUMAN	HDLBP	HGNC	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN	.	UPI00001AEF85	SNV	HDLBP,missense_variant,p.Val1008Ala,ENST00000310931,;HDLBP,missense_variant,p.Val975Ala,ENST00000427183,;HDLBP,missense_variant,p.Val817Ala,ENST00000373292,;HDLBP,missense_variant,p.Val1008Ala,ENST00000391976,;HDLBP,missense_variant,p.Val1008Ala,ENST00000391975,;HDLBP,upstream_gene_variant,,ENST00000442730,;HDLBP,downstream_gene_variant,,ENST00000427487,;HDLBP,downstream_gene_variant,,ENST00000452931,;HDLBP,non_coding_transcript_exon_variant,,ENST00000470482,;HDLBP,non_coding_transcript_exon_variant,,ENST00000483086,;HDLBP,upstream_gene_variant,,ENST00000484412,;HDLBP,downstream_gene_variant,,ENST00000471294,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479894,;HDLBP,upstream_gene_variant,,ENST00000488013,;HDLBP,downstream_gene_variant,,ENST00000459788,;HDLBP,downstream_gene_variant,,ENST00000479169,;	3251	47	44	SUCCESS
AC093642.5	0	.	GRCh37	2	243037160	243037160	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	196	0	ENST00000456398.1:n.292G>A		p.*98*	ENST00000456398				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUSE|VARSCANS	.	CCATTGTAACA	NONE	.	.	.	.	.	.	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000456398	Transcript	.	.	ENSG00000220804	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC093642.5	Clone_based_vega_gene	.	.	.	SNV	AC093642.5,non_coding_transcript_exon_variant,,ENST00000442213,;AC093642.5,non_coding_transcript_exon_variant,,ENST00000456398,;AC093642.5,non_coding_transcript_exon_variant,,ENST00000431796,;AC093642.5,non_coding_transcript_exon_variant,,ENST00000403324,;AC093642.5,non_coding_transcript_exon_variant,,ENST00000444990,;AC093642.5,non_coding_transcript_exon_variant,,ENST00000453598,;AC093642.5,non_coding_transcript_exon_variant,,ENST00000416103,;	292	196	116	SUCCESS
DNMT3A	1788	.	GRCh37	2	25497864	25497864	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	43	111	0	ENST00000264709.3:c.585del	p.Tyr196ThrfsTer29	p.Y196Tfs*29	ENST00000264709	NM_175629.2	195	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS33157.1	585	INDELOCATOR*|VARSCANI*|PINDEL	.	GTAGTAGGGGTC	NONE	.	.	hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068	.	.	ENSP00000264709	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	deletion	DNMT3A,frameshift_variant,p.Tyr196ThrfsTer29,ENST00000321117,;DNMT3A,frameshift_variant,p.Tyr196ThrfsTer29,ENST00000264709,;DNMT3A,frameshift_variant,p.Tyr196ThrfsTer29,ENST00000380756,;	923	111	170	SUCCESS
EPT1	0	.	GRCh37	2	26587701	26587701	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	118	0	ENST00000260585.7:c.128T>A	p.Val43Glu	p.V43E	ENST00000260585	NM_033505.2	43	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS46240.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGTATTTC	NONE	.	.	hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF33,PIRSF_domain:PIRSF015665	.	.	ENSP00000260585	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000260585	Transcript	.	.	ENSG00000138018	29361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	deleterious(0.02)	.	EPT1_HUMAN	EPT1	HGNC	G1UI38_HUMAN,C9JEZ2_HUMAN,C9J9I1_HUMAN	.	UPI00003CE422	SNV	EPT1,missense_variant,p.Val11Glu,ENST00000442141,;EPT1,missense_variant,p.Val43Glu,ENST00000447170,;EPT1,missense_variant,p.Val43Glu,ENST00000260585,;	247	118	105	SUCCESS
DRC1	92749	.	GRCh37	2	26676396	26676396	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	146	0	ENST00000288710.2:c.1898T>C	p.Val633Ala	p.V633A	ENST00000288710	NM_145038.2	633	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1723.1	1898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGTCATGG	NONE	.	.	hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1	.	.	ENSP00000288710	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000288710	Transcript	.	.	ENSG00000157856	24245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	deleterious(0.01)	.	DRC1_HUMAN	DRC1	HGNC	.	.	UPI000013DF36	SNV	DRC1,missense_variant,p.Val633Ala,ENST00000288710,;DRC1,downstream_gene_variant,,ENST00000439066,;OTOF,downstream_gene_variant,,ENST00000403946,;OTOF,downstream_gene_variant,,ENST00000338581,;OTOF,downstream_gene_variant,,ENST00000272371,;OTOF,downstream_gene_variant,,ENST00000339598,;OTOF,downstream_gene_variant,,ENST00000402415,;	1972	146	133	SUCCESS
AC074091.13	0	.	GRCh37	2	27930711	27930711	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	59	155	0	ENST00000379677.2:c.322T>C	p.Tyr108His	p.Y108H	ENST00000379677		108	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	.	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAGTACT	NONE	.	.	.	.	.	ENSP00000368999	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379677	Transcript	.	.	ENSG00000205334	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	.	.	.	AC074091.13	Clone_based_vega_gene	B7WNW1_HUMAN	.	UPI0000D6117B	SNV	AC074091.13,missense_variant,p.Tyr108His,ENST00000379677,;	802	155	135	SUCCESS
BIRC6	57448	.	GRCh37	2	32696085	32696085	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	51	116	0	ENST00000421745.2:c.6485T>C	p.Val2162Ala	p.V2162A	ENST00000421745	NM_016252.3	2162	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33175.2	6485	RADIA|MUTECT|MUSE	.	AGGAGTACTAG	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	32/74	.	.	.	.	.	.	.	.	.	32/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.251)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Val2162Ala,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000462504,;	6619	116	116	SUCCESS
BIRC6	57448	.	GRCh37	2	32696135	32696135	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	69	124	0	ENST00000421745.2:c.6535C>T	p.Leu2179=	p.L2179=	ENST00000421745	NM_016252.3	2179	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33175.2	6535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGCTGGAT	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	32/74	.	.	.	.	.	.	.	.	.	32/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,synonymous_variant,p.%3D,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000462504,;	6669	124	152	SUCCESS
LTBP1	4052	.	GRCh37	2	33500964	33500964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142262862	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	79	0	ENST00000404816.2:c.2966G>A	p.Arg989His	p.R989H	ENST00000404816		989	cGc/cAc	0	T:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS33177.2	2966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCGCATGA	NONE	byCluster	.	hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	T:0.0001	ENSP00000386043	.	18/34	.	.	.	.	.	.	.	.	rs142262862	18/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.16)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Arg663His,ENST00000407925,;LTBP1,missense_variant,p.Arg990His,ENST00000354476,;LTBP1,missense_variant,p.Arg663His,ENST00000418533,;LTBP1,missense_variant,p.Arg664His,ENST00000390003,;LTBP1,missense_variant,p.Arg989His,ENST00000404816,;LTBP1,missense_variant,p.Arg610His,ENST00000402934,;LTBP1,missense_variant,p.Arg610His,ENST00000404525,;LTBP1,downstream_gene_variant,,ENST00000468091,;LTBP1,downstream_gene_variant,,ENST00000413303,;LTBP1,upstream_gene_variant,,ENST00000415140,;	3319	79	59	SUCCESS
FAM98A	25940	.	GRCh37	2	33810066	33810066	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	72	0	ENST00000238823.8:c.1334A>G	p.Asp445Gly	p.D445G	ENST00000238823		445	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33179.1	1334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGTCCTGC	NONE	.	.	hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF6	.	.	ENSP00000238823	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000238823	Transcript	.	.	ENSG00000119812	24520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	FA98A_HUMAN	FAM98A	HGNC	C9J3G8_HUMAN,B4DT23_HUMAN	.	UPI000013F15A	SNV	FAM98A,missense_variant,p.Asp250Gly,ENST00000441530,;FAM98A,missense_variant,p.Asp445Gly,ENST00000238823,;FAM98A,3_prime_UTR_variant,,ENST00000403368,;FAM98A,downstream_gene_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000475122,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,downstream_gene_variant,,ENST00000492649,;	1475	72	95	SUCCESS
MYADML	151325	.	GRCh37	2	33952665	33952665	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs750734221	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	12	0	ENST00000474610.1:n.610G>A		p.*204*	ENST00000474610				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GATGGCGTGGT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750734221	.	PASS	ENST00000366209	Transcript	.	.	ENSG00000203386	.	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC009499.1	Clone_based_vega_gene	.	.	.	SNV	AC009499.1,intron_variant,,ENST00000442026,;AC009499.1,intron_variant,,ENST00000366209,;MYADML,non_coding_transcript_exon_variant,,ENST00000474610,;MYADML,upstream_gene_variant,,ENST00000490394,;MYADML,non_coding_transcript_exon_variant,,ENST00000491596,;MYADML,non_coding_transcript_exon_variant,,ENST00000322472,;	.	12	11	SUCCESS
TRAPPC12	51112	.	GRCh37	2	3469411	3469411	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1267471742	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	93	0	ENST00000324266.5:c.1721A>G	p.Tyr574Cys	p.Y574C	ENST00000324266	NM_016030.5	574	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1652.1	1721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTATTACC	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR21581:SF1,hmmpanther:PTHR21581,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000324318	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000324266	Transcript	.	.	ENSG00000171853	24284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.07)	.	TPC12_HUMAN	TRAPPC12	HGNC	Q53S18_HUMAN,Q53QD4_HUMAN	.	UPI000014132D	SNV	TRAPPC12,missense_variant,p.Tyr574Cys,ENST00000382110,;TRAPPC12,missense_variant,p.Tyr574Cys,ENST00000324266,;TRAPPC12,missense_variant,p.Tyr72Cys,ENST00000415624,;TRAPPC12,upstream_gene_variant,,ENST00000416918,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000473348,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000469147,;TRAPPC12,downstream_gene_variant,,ENST00000462983,;TRAPPC12,missense_variant,p.Tyr186Cys,ENST00000417243,;TRAPPC12,3_prime_UTR_variant,,ENST00000437733,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000479897,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000461577,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000433382,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000497597,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000489032,;	1916	93	72	SUCCESS
USP34	9736	.	GRCh37	2	61633160	61633160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	44	138	0	ENST00000398571.2:c.235G>T	p.Asp79Tyr	p.D79Y	ENST00000398571	NM_014709.3	79	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42686.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCCCGGA	NONE	.	.	.	.	.	ENSP00000381577	.	3/80	.	.	.	.	.	.	.	.	.	3/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	deleterious(0)	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,missense_variant,p.Asp79Tyr,ENST00000398571,;USP34,intron_variant,,ENST00000453133,;	312	138	61	SUCCESS
TMEM17	200728	.	GRCh37	2	62733210	62733210	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	64	179	0	ENST00000335390.5:c.55T>C	p.Phe19Leu	p.F19L	ENST00000335390	NM_198276.2	19	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS1871.1	55	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAACACGG	NONE	.	.	hmmpanther:PTHR13531:SF3,hmmpanther:PTHR13531	.	.	ENSP00000335094	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000335390	Transcript	.	.	ENSG00000186889	26623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.19)	.	TMM17_HUMAN	TMEM17	HGNC	.	.	UPI00001602DD	SNV	TMEM17,missense_variant,p.Phe19Leu,ENST00000335390,;TMEM17,non_coding_transcript_exon_variant,,ENST00000494919,;TMEM17,intron_variant,,ENST00000479763,;AC107083.1,downstream_gene_variant,,ENST00000439643,;	267	179	98	SUCCESS
ADD2	119	.	GRCh37	2	70900405	70900405	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	56	144	0	ENST00000264436.4:c.1742-267A>T		p.*581*	ENST00000264436	NM_001617.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1906.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCTGAAGA	NONE	.	.	.	.	.	ENSP00000264436	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264436	Transcript	.	.	ENSG00000075340	244	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADDB_HUMAN	ADD2	HGNC	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN	.	UPI0000125503	SNV	ADD2,missense_variant,p.Ser599Cys,ENST00000355733,;ADD2,intron_variant,,ENST00000264436,;ADD2,intron_variant,,ENST00000407644,;ADD2,downstream_gene_variant,,ENST00000413157,;ADD2,downstream_gene_variant,,ENST00000456320,;ADD2,downstream_gene_variant,,ENST00000430656,;ADD2,downstream_gene_variant,,ENST00000522886,;ADD2,non_coding_transcript_exon_variant,,ENST00000481675,;ADD2,intron_variant,,ENST00000403045,;	.	144	72	SUCCESS
NAGK	55577	.	GRCh37	2	71302745	71302745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs927411252	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	93	0	ENST00000244204.6:c.640G>A	p.Ala214Thr	p.A214T	ENST00000244204		214	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33220.2	778	MUTECT|MUSE	.	GGTTTGCTGGG	NONE	.	.	hmmpanther:PTHR12862:SF0,hmmpanther:PTHR12862,Pfam_domain:PF01869,Superfamily_domains:SSF53067	.	.	ENSP00000389087	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000455662	Transcript	.	.	ENSG00000124357	17174	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NAGK_HUMAN	NAGK	HGNC	E9PPU6_HUMAN,C9JEV6_HUMAN	.	UPI0000E0753B	SNV	NAGK,missense_variant,p.Ala163Thr,ENST00000418807,;NAGK,missense_variant,p.Ala214Thr,ENST00000244204,;NAGK,missense_variant,p.Ala260Thr,ENST00000455662,;NAGK,missense_variant,p.Ala214Thr,ENST00000443938,;NAGK,missense_variant,p.Ala66Thr,ENST00000531934,;NAGK,missense_variant,p.Ala66Thr,ENST00000443872,;NAGK,splice_region_variant,,ENST00000529236,;NAGK,intron_variant,,ENST00000524537,;NAGK,downstream_gene_variant,,ENST00000533981,;NAGK,downstream_gene_variant,,ENST00000428360,;NAGK,3_prime_UTR_variant,,ENST00000450272,;NAGK,3_prime_UTR_variant,,ENST00000524736,;NAGK,non_coding_transcript_exon_variant,,ENST00000493102,;NAGK,non_coding_transcript_exon_variant,,ENST00000468601,;NAGK,non_coding_transcript_exon_variant,,ENST00000490998,;NAGK,non_coding_transcript_exon_variant,,ENST00000489309,;NAGK,non_coding_transcript_exon_variant,,ENST00000475709,;NAGK,non_coding_transcript_exon_variant,,ENST00000478659,;NAGK,non_coding_transcript_exon_variant,,ENST00000464638,;NAGK,non_coding_transcript_exon_variant,,ENST00000472519,;NAGK,non_coding_transcript_exon_variant,,ENST00000479854,;NAGK,downstream_gene_variant,,ENST00000455197,;NAGK,downstream_gene_variant,,ENST00000480411,;NAGK,downstream_gene_variant,,ENST00000484984,;NAGK,downstream_gene_variant,,ENST00000497690,;NAGK,downstream_gene_variant,,ENST00000465105,;NAGK,upstream_gene_variant,,ENST00000498022,;	1023	93	41	SUCCESS
ZNF638	27332	.	GRCh37	2	71650049	71650049	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	83	196	0	ENST00000264447.4:c.3405T>G	p.Ile1135Met	p.I1135M	ENST00000264447	NM_001014972.2	1135	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS1917.1	3405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATTCAAAC	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.05)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Ile75Met,ENST00000409407,;ZNF638,missense_variant,p.Ile1135Met,ENST00000409544,;ZNF638,missense_variant,p.Ile1135Met,ENST00000264447,;ZNF638,intron_variant,,ENST00000355812,;ZNF638,intron_variant,,ENST00000483421,;ZNF638,upstream_gene_variant,,ENST00000493576,;ZNF638,upstream_gene_variant,,ENST00000472758,;ZNF638,upstream_gene_variant,,ENST00000492262,;ZNF638,upstream_gene_variant,,ENST00000461991,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,intron_variant,,ENST00000494241,;	4035	196	115	SUCCESS
DYSF	8291	.	GRCh37	2	71740432	71740432	+	intron_variant	Intron	SNP	T	T	C	rs1382628319	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	86	232	0	ENST00000258104.3:c.458-414T>C		p.*153*	ENST00000258104	NM_003494.3	175		0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS46328.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGATACTCT	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35	.	.	ENSP00000386881	.	6/56	.	.	.	.	.	.	.	.	.	6/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.53)	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Tyr174His,ENST00000409582,;DYSF,missense_variant,p.Tyr175His,ENST00000410020,;DYSF,missense_variant,p.Tyr174His,ENST00000409762,;DYSF,missense_variant,p.Tyr175His,ENST00000410041,;DYSF,missense_variant,p.Tyr175His,ENST00000409651,;DYSF,missense_variant,p.Tyr174His,ENST00000413539,;DYSF,intron_variant,,ENST00000409744,;DYSF,intron_variant,,ENST00000429174,;DYSF,intron_variant,,ENST00000394120,;DYSF,intron_variant,,ENST00000409366,;DYSF,intron_variant,,ENST00000258104,;	664	232	121	SUCCESS
DYSF	8291	.	GRCh37	2	71755509	71755509	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	45	113	0	ENST00000258104.3:c.1262A>C	p.Glu421Ala	p.E421A	ENST00000258104	NM_003494.3	421	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS46328.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGAGGTCA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000386881	.	14/56	.	.	.	.	.	.	.	.	.	14/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0.02)	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Glu452Ala,ENST00000409582,;DYSF,missense_variant,p.Glu453Ala,ENST00000410020,;DYSF,missense_variant,p.Glu422Ala,ENST00000409744,;DYSF,missense_variant,p.Glu421Ala,ENST00000429174,;DYSF,missense_variant,p.Glu452Ala,ENST00000409762,;DYSF,missense_variant,p.Glu453Ala,ENST00000410041,;DYSF,missense_variant,p.Glu453Ala,ENST00000409651,;DYSF,missense_variant,p.Glu422Ala,ENST00000394120,;DYSF,missense_variant,p.Glu422Ala,ENST00000409366,;DYSF,missense_variant,p.Glu452Ala,ENST00000413539,;DYSF,missense_variant,p.Glu421Ala,ENST00000258104,;	1499	113	66	SUCCESS
DYSF	8291	.	GRCh37	2	71766312	71766312	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761279290	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	30	59	0	ENST00000258104.3:c.1423G>A	p.Val475Met	p.V475M	ENST00000258104	NM_003494.3	475	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS46328.1	1519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGTGGCT	NONE	byFrequency	.	PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000386881	.	17/56	.	.	.	.	.	.	.	.	rs761279290,COSM1306971,COSM1306970	17/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.903)	.	deleterious(0)	0,1,1	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Val506Met,ENST00000409582,;DYSF,missense_variant,p.Val507Met,ENST00000410020,;DYSF,missense_variant,p.Val476Met,ENST00000409744,;DYSF,missense_variant,p.Val475Met,ENST00000429174,;DYSF,missense_variant,p.Val506Met,ENST00000409762,;DYSF,missense_variant,p.Val507Met,ENST00000410041,;DYSF,missense_variant,p.Val507Met,ENST00000409651,;DYSF,missense_variant,p.Val476Met,ENST00000394120,;DYSF,missense_variant,p.Val476Met,ENST00000409366,;DYSF,missense_variant,p.Val506Met,ENST00000413539,;DYSF,missense_variant,p.Val475Met,ENST00000258104,;	1660	59	43	SUCCESS
EMX1	2016	.	GRCh37	2	73151542	73151542	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762371972	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	84	0	ENST00000258106.6:c.625C>T	p.Arg209Cys	p.R209C	ENST00000258106	NM_004097.2	209	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1921.2	625	MUTECT|MUSE|VARSCANS	.	TGGAGCGCGCC	NONE	byFrequency	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR24339:SF26,hmmpanther:PTHR24339,PROSITE_profiles:PS50071	.	.	ENSP00000258106	.	2/3	.	.	.	.	.	.	.	.	rs762371972	2/3	PASS	ENST00000258106	Transcript	.	.	ENSG00000135638	3340	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.731)	.	deleterious(0.01)	.	EMX1_HUMAN	EMX1	HGNC	.	.	UPI0000D47CF7	SNV	EMX1,missense_variant,p.Arg209Cys,ENST00000258106,;EMX1,missense_variant,p.Ala143Val,ENST00000464675,;EMX1,missense_variant,p.Arg87Cys,ENST00000473732,;EMX1,non_coding_transcript_exon_variant,,ENST00000491023,;EMX1,non_coding_transcript_exon_variant,,ENST00000394111,;	1003	84	50	SUCCESS
EGR4	1961	.	GRCh37	2	73520705	73520705	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	24	0	ENST00000545030.1:c.50T>C	p.Leu17Pro	p.L17P	ENST00000545030	NM_001965.3	17	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1925.2	50	MUTECT|MUSE	.	TATATAGCTGC	NONE	.	.	.	.	.	ENSP00000445626	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000545030	Transcript	.	.	ENSG00000135625	3241	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	EGR4_HUMAN	EGR4	HGNC	B7ZKU3_HUMAN	.	UPI0000EE25D4	SNV	EGR4,missense_variant,p.Leu17Pro,ENST00000545030,;EGR4,5_prime_UTR_variant,,ENST00000436467,;	125	24	17	SUCCESS
ALMS1	7840	.	GRCh37	2	73718037	73718038	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	182	76	182	0	ENST00000264448.6:c.8952dup	p.Pro2985SerfsTer14	p.P2985Sfs*14	ENST00000264448	NM_015120.4	2983	cat/caTt	0	.	.	.	.	.	T	H/HX	protein_coding	YES	CCDS42697.1	8948-8949	VARSCANI*|PINDEL	.	ACACCATTTTC	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	insertion	ALMS1,frameshift_variant,p.Pro2943SerfsTer14,ENST00000409009,;ALMS1,frameshift_variant,p.Pro2985SerfsTer14,ENST00000264448,;AC096546.1,upstream_gene_variant,,ENST00000408160,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;ALMS1,intron_variant,,ENST00000423048,;	9059-9060	182	258	SUCCESS
DCTN1	1639	.	GRCh37	2	74593128	74593128	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	57	0	ENST00000361874.3:c.2778G>A	p.Leu926=	p.L926=	ENST00000361874	NM_004082.4	926	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1939.1	2778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCAGTTC	NONE	.	.	hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916	.	.	ENSP00000354791	.	24/32	.	.	.	.	.	.	.	.	COSM1284430	24/32	PASS	ENST00000361874	Transcript	.	.	ENSG00000204843	2711	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DCTN1_HUMAN	DCTN1	HGNC	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN	.	UPI0000129A25	SNV	DCTN1,synonymous_variant,p.%3D,ENST00000394003,;DCTN1,synonymous_variant,p.%3D,ENST00000409868,;DCTN1,synonymous_variant,p.%3D,ENST00000407639,;DCTN1,synonymous_variant,p.%3D,ENST00000409240,;DCTN1,synonymous_variant,p.%3D,ENST00000361874,;DCTN1,synonymous_variant,p.%3D,ENST00000409567,;DCTN1,synonymous_variant,p.%3D,ENST00000409438,;DCTN1,non_coding_transcript_exon_variant,,ENST00000495643,;DCTN1,intron_variant,,ENST00000497666,;DCTN1,3_prime_UTR_variant,,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000495895,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000492717,;DCTN1,upstream_gene_variant,,ENST00000491465,;RP11-287D1.3,upstream_gene_variant,,ENST00000451608,;	3096	57	75	SUCCESS
M1AP	130951	.	GRCh37	2	74789369	74789369	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	20	106	0	ENST00000290536.5:c.1256A>G	p.His419Arg	p.H419R	ENST00000290536	NM_138804.4	419	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS33229.1	1256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATGTGGG	NONE	.	.	.	.	.	ENSP00000290536	.	8/11	.	.	.	.	.	.	.	.	COSM4095832	8/11	PASS	ENST00000290536	Transcript	.	.	ENSG00000159374	25183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	deleterious(0.02)	1	M1AP_HUMAN	M1AP	HGNC	C9JPR9_HUMAN	.	UPI0000072570	SNV	M1AP,missense_variant,p.His419Arg,ENST00000409585,;M1AP,missense_variant,p.His419Arg,ENST00000290536,;M1AP,missense_variant,p.His419Arg,ENST00000536235,;M1AP,intron_variant,,ENST00000358434,;DOK1,downstream_gene_variant,,ENST00000233668,;DOK1,downstream_gene_variant,,ENST00000340004,;DOK1,downstream_gene_variant,,ENST00000409429,;M1AP,non_coding_transcript_exon_variant,,ENST00000464686,;M1AP,intron_variant,,ENST00000485997,;DOK1,downstream_gene_variant,,ENST00000464613,;	1373	106	114	SUCCESS
LRRTM4	80059	.	GRCh37	2	77746553	77746553	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	65	170	0	ENST00000409093.1:c.442T>C	p.Leu148=	p.L148=	ENST00000409093		148	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS46346.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAATGTCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF1,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF00560,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000386357	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000409093	Transcript	.	.	ENSG00000176204	19411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRT4_HUMAN	LRRTM4	HGNC	C9JM64_HUMAN	.	UPI0000047808	SNV	LRRTM4,synonymous_variant,p.%3D,ENST00000409088,;LRRTM4,synonymous_variant,p.%3D,ENST00000409093,;LRRTM4,synonymous_variant,p.%3D,ENST00000409282,;LRRTM4,synonymous_variant,p.%3D,ENST00000409884,;LRRTM4,synonymous_variant,p.%3D,ENST00000409911,;LRRTM4,downstream_gene_variant,,ENST00000456154,;	779	170	151	SUCCESS
GGCX	2677	.	GRCh37	2	85788544	85788544	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768488044	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	68	188	0	ENST00000233838.4:c.8T>C	p.Val3Ala	p.V3A	ENST00000233838	NM_000821.5	3	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS1978.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACACCGCC	NONE	byFrequency	.	hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639	.	.	ENSP00000233838	.	1/15	.	.	.	.	.	.	.	.	rs768488044	1/15	PASS	ENST00000233838	Transcript	.	.	ENSG00000115486	4247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.49)	.	VKGC_HUMAN	GGCX	HGNC	.	.	UPI0000000DD6	SNV	GGCX,missense_variant,p.Val3Ala,ENST00000233838,;GGCX,missense_variant,p.Val3Ala,ENST00000430215,;VAMP8,upstream_gene_variant,,ENST00000432071,;GGCX,non_coding_transcript_exon_variant,,ENST00000496962,;GGCX,non_coding_transcript_exon_variant,,ENST00000465637,;GGCX,non_coding_transcript_exon_variant,,ENST00000481541,;GGCX,missense_variant,p.Val3Ala,ENST00000423570,;GGCX,missense_variant,p.Val3Ala,ENST00000421496,;GGCX,missense_variant,p.Val3Ala,ENST00000428479,;	89	188	172	SUCCESS
ANKRD20A8P	729171	.	GRCh37	2	95519010	95519010	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	11	115	0	ENST00000432432.2:n.542T>C		p.*181*	ENST00000432432				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	CTCTCACTATA	NONE	.	.	.	.	.	.	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000432432	Transcript	.	.	ENSG00000229089	23666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ANKRD20A8P	HGNC	.	.	.	SNV	ANKRD20A8P,non_coding_transcript_exon_variant,,ENST00000432432,;ANKRD20A8P,non_coding_transcript_exon_variant,,ENST00000446135,;	542	115	112	SUCCESS
TEKT4	150483	.	GRCh37	2	95540683	95540683	+	synonymous_variant	Silent	SNP	C	C	T	rs532380414	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	88	0	ENST00000295201.4:c.876C>T	p.Phe292=	p.F292=	ENST00000295201	NM_144705.2	292	ttC/ttT	0	.	T:0	.	T:0	.	T	F	protein_coding	YES	CCDS2005.1	876	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCGGGCG	NONE	by1000G	.	hmmpanther:PTHR19960:SF12,hmmpanther:PTHR19960,Pfam_domain:PF03148	T:0.001	.	ENSP00000295201	T:0	4/6	.	.	.	.	.	.	.	.	rs532380414	4/6	PASS	ENST00000295201	Transcript	.	T:0.0002	ENSG00000163060	31012	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	TEKT4_HUMAN	TEKT4	HGNC	.	.	UPI00000730A8	SNV	TEKT4,synonymous_variant,p.%3D,ENST00000295201,;TEKT4,downstream_gene_variant,,ENST00000427593,;AC097374.2,intron_variant,,ENST00000582835,;AC097374.2,intron_variant,,ENST00000568768,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;AC097374.2,intron_variant,,ENST00000597308,;	1013	88	77	SUCCESS
STARD7	56910	.	GRCh37	2	96852600	96852600	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	68	143	0	ENST00000337288.5:c.981T>A	p.Asn327Lys	p.N327K	ENST00000337288	NM_020151.3	327	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS2017.2	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATATTCTT	NONE	.	.	SMART_domains:SM00234,Gene3D:3.30.530.20,hmmpanther:PTHR19308:SF4,hmmpanther:PTHR19308,PROSITE_profiles:PS50848	.	.	ENSP00000338030	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000337288	Transcript	.	.	ENSG00000084090	18063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.14)	.	STAR7_HUMAN	STARD7	HGNC	C9JTD3_HUMAN	.	UPI0000001C0C	SNV	STARD7,missense_variant,p.Asn327Lys,ENST00000337288,;STARD7,non_coding_transcript_exon_variant,,ENST00000462501,;STARD7,non_coding_transcript_exon_variant,,ENST00000479456,;	1365	144	148	SUCCESS
ARID5A	10865	.	GRCh37	2	97217599	97217599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139848963	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	48	122	0	ENST00000357485.3:c.1334G>A	p.Arg445His	p.R445H	ENST00000357485	NM_212481.1	445	cGc/cAc	0	A:0.0005	.	.	.	.	A	R/H	protein_coding	YES	CCDS33251.1	1334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGCAGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13964:SF19,hmmpanther:PTHR13964	.	A:0.0001	ENSP00000350078	.	7/7	.	.	.	.	.	.	.	.	rs139848963,COSM3391898	7/7	PASS	ENST00000357485	Transcript	.	.	ENSG00000196843	17361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	0,1	ARI5A_HUMAN	ARID5A	HGNC	C9J1Q0_HUMAN	.	UPI00001C1DBB	SNV	ARID5A,missense_variant,p.Arg445His,ENST00000357485,;ARID5A,missense_variant,p.Arg377His,ENST00000454558,;ARID5A,3_prime_UTR_variant,,ENST00000412735,;ARID5A,non_coding_transcript_exon_variant,,ENST00000497920,;ARID5A,downstream_gene_variant,,ENST00000467498,;ARID5A,downstream_gene_variant,,ENST00000470579,;	1412	122	110	SUCCESS
FAM178B	51252	.	GRCh37	2	97587274	97587275	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	272	96	257	0	ENST00000417561.3:c.1848dup	p.Val617SerfsTer2	p.V617Sfs*2	ENST00000417561		616	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS46366.2	1404-1405	VARSCANI*|PINDEL	.	GTCAACTTTGG	NONE	.	.	Pfam_domain:PF14816,hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF11,Low_complexity_(Seg):seg	.	.	ENSP00000429896	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000490605	Transcript	.	.	ENSG00000168754	28036	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F178B_HUMAN	FAM178B	HGNC	F8W6I6_HUMAN,B3KV66_HUMAN	.	UPI0001C53D28	insertion	FAM178B,frameshift_variant,p.Val617SerfsTer2,ENST00000417561,;FAM178B,frameshift_variant,p.Val437SerfsTer2,ENST00000327896,;FAM178B,frameshift_variant,p.Val469SerfsTer2,ENST00000490605,;FAM178B,non_coding_transcript_exon_variant,,ENST00000478671,;FAM178B,downstream_gene_variant,,ENST00000520074,;	1683-1684	257	368	SUCCESS
TMEM131	23505	.	GRCh37	2	98382614	98382614	+	synonymous_variant	Silent	SNP	C	C	T	rs376329900	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	81	226	0	ENST00000186436.5:c.4686G>A	p.Pro1562=	p.P1562=	ENST00000186436	NM_015348.1	1562	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS46368.1	4686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCCGGTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1	.	T:0.0001	ENSP00000186436	.	35/41	.	.	.	.	.	.	.	.	rs376329900	35/41	PASS	ENST00000186436	Transcript	.	.	ENSG00000075568	30366	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,synonymous_variant,p.%3D,ENST00000186436,;TMEM131,upstream_gene_variant,,ENST00000465767,;TMEM131,upstream_gene_variant,,ENST00000485245,;	4915	226	198	SUCCESS
TMEM131	23505	.	GRCh37	2	98427619	98427619	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	106	0	ENST00000186436.5:c.1940G>A	p.Gly647Glu	p.G647E	ENST00000186436	NM_015348.1	647	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS46368.1	1940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCCATCA	NONE	.	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1,Pfam_domain:PF12371	.	.	ENSP00000186436	.	18/41	.	.	.	.	.	.	.	.	.	18/41	PASS	ENST00000186436	Transcript	.	.	ENSG00000075568	30366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,missense_variant,p.Gly647Glu,ENST00000186436,;TMEM131,downstream_gene_variant,,ENST00000425805,;TMEM131,downstream_gene_variant,,ENST00000418629,;	2169	107	92	SUCCESS
MGAT4A	11320	.	GRCh37	2	99294779	99294779	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	68	0	ENST00000264968.3:c.250A>T	p.Asn84Tyr	p.N84Y	ENST00000264968		84	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS2036.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATTCAACG	NONE	.	.	hmmpanther:PTHR12062:SF4,hmmpanther:PTHR12062,Pfam_domain:PF04666	.	.	ENSP00000264968	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000264968	Transcript	.	.	ENSG00000071073	7047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0.02)	.	MGT4A_HUMAN	MGAT4A	HGNC	.	.	UPI000003F051	SNV	MGAT4A,missense_variant,p.Asn84Tyr,ENST00000393487,;MGAT4A,missense_variant,p.Asn84Tyr,ENST00000409391,;MGAT4A,missense_variant,p.Asn84Tyr,ENST00000264968,;MGAT4A,non_coding_transcript_exon_variant,,ENST00000484936,;MGAT4A,downstream_gene_variant,,ENST00000460768,;	614	68	57	SUCCESS
MGAT4A	11320	.	GRCh37	2	99342846	99342846	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	50	0	ENST00000264968.3:c.-51T>A		p.*17*	ENST00000264968				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2036.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGACTGTT	NONE	.	.	.	.	.	ENSP00000264968	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000264968	Transcript	.	.	ENSG00000071073	7047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT4A_HUMAN	MGAT4A	HGNC	.	.	UPI000003F051	SNV	MGAT4A,5_prime_UTR_variant,,ENST00000393487,;MGAT4A,5_prime_UTR_variant,,ENST00000409391,;MGAT4A,5_prime_UTR_variant,,ENST00000264968,;MGAT4A,5_prime_UTR_variant,,ENST00000495056,;MGAT4A,non_coding_transcript_exon_variant,,ENST00000460768,;MGAT4A,non_coding_transcript_exon_variant,,ENST00000484936,;	314	50	73	SUCCESS
ZBTB11	27107	.	GRCh37	3	101383437	101383437	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	127	0	ENST00000312938.4:c.1745A>G	p.Tyr582Cys	p.Y582C	ENST00000312938	NM_014415.3	582	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS2943.1	1745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGTATCGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF4,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000326200	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000312938	Transcript	.	.	ENSG00000066422	16740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.513)	.	tolerated(0.1)	.	ZBT11_HUMAN	ZBTB11	HGNC	Q59H97_HUMAN,B3KN38_HUMAN	.	UPI000013D5E3	SNV	ZBTB11,missense_variant,p.Tyr582Cys,ENST00000312938,;Y_RNA,upstream_gene_variant,,ENST00000364251,;ZBTB11,upstream_gene_variant,,ENST00000471673,;	2326	127	112	SUCCESS
NXPE3	91775	.	GRCh37	3	101504340	101504340	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	39	0	ENST00000273347.5:c.-101A>C		p.*34*	ENST00000273347	NM_145037.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2945.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAACTGA	NONE	.	.	.	.	.	ENSP00000396421	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000422132	Transcript	.	.	ENSG00000144815	28238	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXPE3_HUMAN	NXPE3	HGNC	C9K0A9_HUMAN	.	UPI000006D090	SNV	NXPE3,5_prime_UTR_variant,,ENST00000491511,;NXPE3,5_prime_UTR_variant,,ENST00000474165,;NXPE3,5_prime_UTR_variant,,ENST00000422132,;NXPE3,5_prime_UTR_variant,,ENST00000273347,;NXPE3,5_prime_UTR_variant,,ENST00000477909,;NXPE3,5_prime_UTR_variant,,ENST00000495842,;NXPE3,downstream_gene_variant,,ENST00000487830,;	97	39	47	SUCCESS
NFKBIZ	64332	.	GRCh37	3	101571016	101571016	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746092557	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	40	135	1	ENST00000326172.5:c.377A>G	p.His126Arg	p.H126R	ENST00000326172	NM_031419.3	126	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2946.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCACATCC	NONE	.	.	hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF5	.	.	ENSP00000325663	.	2/12	.	.	.	.	.	.	.	.	rs746092557	2/12	PASS	ENST00000326172	Transcript	.	.	ENSG00000144802	29805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious_low_confidence(0)	.	IKBZ_HUMAN	NFKBIZ	HGNC	C9JZ23_HUMAN,C9J5I7_HUMAN,C9J5G8_HUMAN	.	UPI000006FBB1	SNV	NFKBIZ,missense_variant,p.His26Arg,ENST00000491281,;NFKBIZ,missense_variant,p.His126Arg,ENST00000326151,;NFKBIZ,missense_variant,p.His26Arg,ENST00000394054,;NFKBIZ,missense_variant,p.His126Arg,ENST00000326172,;NFKBIZ,missense_variant,p.His26Arg,ENST00000483180,;NFKBIZ,upstream_gene_variant,,ENST00000477601,;NFKBIZ,downstream_gene_variant,,ENST00000461724,;NFKBIZ,non_coding_transcript_exon_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;NFKBIZ,upstream_gene_variant,,ENST00000495089,;	492	136	101	SUCCESS
CD47	961	.	GRCh37	3	107798890	107798890	+	synonymous_variant	Silent	SNP	T	T	G	rs560443707	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	61	139	0	ENST00000361309.5:c.348A>C	p.Val116=	p.V116=	ENST00000361309	NM_001777.3	116	gtA/gtC	0	.	C:0	.	C:0	.	G	V	protein_coding	YES	CCDS43126.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTTACTTC	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10613,hmmpanther:PTHR10613:SF0,Gene3D:2.60.40.10,Pfam_domain:PF08204,Superfamily_domains:SSF48726	C:0	.	ENSP00000355361	C:0.001	2/11	.	.	.	.	.	.	.	.	rs560443707	2/11	PASS	ENST00000361309	Transcript	.	C:0.0002	ENSG00000196776	1682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	CD47_HUMAN	CD47	HGNC	.	.	UPI0000049C6C	SNV	CD47,synonymous_variant,p.%3D,ENST00000361309,;CD47,synonymous_variant,p.%3D,ENST00000355354,;	454	139	154	SUCCESS
SLC9C1	285335	.	GRCh37	3	111898494	111898494	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	59	0	ENST00000305815.5:c.2803A>G	p.Lys935Glu	p.K935E	ENST00000305815	NM_183061.1	935	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS33817.1	2803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTTCTCCT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Gene3D:2.60.120.10,Pfam_domain:PF00027,Superfamily_domains:SSF51206	.	.	ENSP00000306627	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.2)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Lys887Glu,ENST00000487372,;SLC9C1,missense_variant,p.Lys935Glu,ENST00000305815,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;	3056	59	80	SUCCESS
CCDC80	151887	.	GRCh37	3	112358126	112358126	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	81	0	ENST00000206423.3:c.627C>T	p.Ile209=	p.I209=	ENST00000206423	NM_199512.1	209	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS2968.1	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGATCTG	NONE	.	.	Pfam_domain:PF13778	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,synonymous_variant,p.%3D,ENST00000206423,;CCDC80,synonymous_variant,p.%3D,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	1581	81	95	SUCCESS
SPICE1	152185	.	GRCh37	3	113188014	113188014	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs558422433	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	29	111	0	ENST00000295872.4:c.683T>C	p.Ile228Thr	p.I228T	ENST00000295872	NM_144718.3	228	aTa/aCa	0	.	G:0.0008	.	G:0	.	G	I/T	protein_coding	YES	CCDS2973.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTATTTTC	NONE	by1000G	.	hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2	G:0	.	ENSP00000295872	G:0	8/18	.	.	.	.	.	.	.	.	rs558422433	8/18	PASS	ENST00000295872	Transcript	.	G:0.0002	ENSG00000163611	25083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	G:0	tolerated(0.71)	.	SPICE_HUMAN	SPICE1	HGNC	C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN	.	UPI000007328D	SNV	SPICE1,missense_variant,p.Ile228Thr,ENST00000295872,;SPICE1,missense_variant,p.Ile40Thr,ENST00000467618,;SPICE1,non_coding_transcript_exon_variant,,ENST00000496105,;	943	111	137	SUCCESS
MIR568	693153	.	GRCh37	3	114035402	114035402	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	462	12	496	0	ENST00000385036.1:n.15T>C		p.*5*	ENST00000385036				0	.	.	.	.	.	G	.	miRNA	YES	.	.	MUTECT|MUSE	.	TACATAATATA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385036	Transcript	.	.	ENSG00000207770	32824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MIR568	HGNC	.	.	.	SNV	MIR568,non_coding_transcript_exon_variant,,ENST00000385036,;RP11-553L6.5,upstream_gene_variant,,ENST00000570269,;	15	496	474	SUCCESS
ZBTB20	26137	.	GRCh37	3	114070331	114070331	+	synonymous_variant	Silent	SNP	G	G	A	rs776067488	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	80	0	ENST00000474710.1:c.594C>T	p.Gly198=	p.G198=	ENST00000474710	NM_001164342.1	198	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54626.1	594	RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGCCCAC	NONE	byFrequency	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF351	.	.	ENSP00000419153	.	4/5	.	.	.	.	.	.	.	.	rs776067488,COSM201846	4/5	PASS	ENST00000474710	Transcript	.	.	ENSG00000181722	13503	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	ZBT20_HUMAN	ZBTB20	HGNC	C9JCX0_HUMAN	.	UPI0000141957	SNV	ZBTB20,synonymous_variant,p.%3D,ENST00000481632,;ZBTB20,synonymous_variant,p.%3D,ENST00000462705,;ZBTB20,synonymous_variant,p.%3D,ENST00000471418,;ZBTB20,synonymous_variant,p.%3D,ENST00000357258,;ZBTB20,synonymous_variant,p.%3D,ENST00000474710,;ZBTB20,synonymous_variant,p.%3D,ENST00000464560,;ZBTB20,synonymous_variant,p.%3D,ENST00000393785,;ZBTB20,downstream_gene_variant,,ENST00000470311,;ZBTB20-AS1,upstream_gene_variant,,ENST00000475939,;ZBTB20-AS1,upstream_gene_variant,,ENST00000467304,;ZBTB20-AS1,upstream_gene_variant,,ENST00000496219,;ZBTB20,intron_variant,,ENST00000479879,;	773	80	69	SUCCESS
MAATS1	0	.	GRCh37	3	119459480	119459480	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	236	98	265	0	ENST00000273390.5:c.1623del	p.Ala542ProfsTer5	p.A542Pfs*5	ENST00000273390	NM_033364.3	540	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS2994.1	1618	VARSCANI*|PINDEL	.	CTGGTGAAAAAA	NONE	.	.	hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273390	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000273390	Transcript	.	.	ENSG00000183833	24010	5	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAAT1_HUMAN	MAATS1	HGNC	.	.	UPI00001C1DFE	deletion	MAATS1,frameshift_variant,p.Ala542ProfsTer5,ENST00000273390,;RP11-169N13.4,downstream_gene_variant,,ENST00000489428,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,3_prime_UTR_variant,,ENST00000482573,;MAATS1,3_prime_UTR_variant,,ENST00000475093,;MAATS1,non_coding_transcript_exon_variant,,ENST00000468630,;MAATS1,non_coding_transcript_exon_variant,,ENST00000483134,;MAATS1,downstream_gene_variant,,ENST00000461322,;	1695	265	334	SUCCESS
NR1I2	8856	.	GRCh37	3	119530405	119530405	+	synonymous_variant	Silent	SNP	C	C	T	rs576229324	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	6	101	0	ENST00000393716.2:c.351C>T	p.Ala117=	p.A117=	ENST00000393716	NM_003889.3	117	gcC/gcT	0	.	T:0	.	T:0.0014	.	T	A	protein_coding	YES	CCDS2995.1	468	MUTECT|MUSE	.	GAGGCCGTGGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39,Gene3D:1.10.565.10,Superfamily_domains:SSF57716	T:0	.	ENSP00000336528	T:0	4/9	.	.	.	.	.	.	.	.	rs576229324	4/9	PASS	ENST00000337940	Transcript	.	T:0.0004	ENSG00000144852	7968	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,synonymous_variant,p.%3D,ENST00000337940,;NR1I2,synonymous_variant,p.%3D,ENST00000466380,;NR1I2,synonymous_variant,p.%3D,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;NR1I2,downstream_gene_variant,,ENST00000474090,;	516	101	112	SUCCESS
HCLS1	3059	.	GRCh37	3	121353148	121353148	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	53	0	ENST00000314583.3:c.809C>T	p.Ala270Val	p.A270V	ENST00000314583	NM_005335.4	270	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3003.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGCCTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10829:SF5,hmmpanther:PTHR10829	.	.	ENSP00000320176	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000314583	Transcript	.	.	ENSG00000180353	4844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	tolerated(0.23)	.	HCLS1_HUMAN	HCLS1	HGNC	.	.	UPI000013F884	SNV	HCLS1,missense_variant,p.Ala233Val,ENST00000428394,;HCLS1,missense_variant,p.Ala270Val,ENST00000314583,;FBXO40,downstream_gene_variant,,ENST00000338040,;HCLS1,non_coding_transcript_exon_variant,,ENST00000473883,;HCLS1,3_prime_UTR_variant,,ENST00000495491,;HCLS1,downstream_gene_variant,,ENST00000464274,;	901	53	62	SUCCESS
CSTA	1475	.	GRCh37	3	122060396	122060396	+	synonymous_variant	Silent	SNP	C	C	T	rs569377469	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	25	148	0	ENST00000264474.3:c.279C>T	p.Asp93=	p.D93=	ENST00000264474	NM_005213.3	93	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS3011.1	279	RADIA|MUTECT|MUSE|VARSCANS	.	GATGACGAGCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11414:SF15,hmmpanther:PTHR11414,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403,Prints_domain:PR00295	.	.	ENSP00000264474	.	3/3	.	.	.	.	.	.	.	.	rs569377469,COSM1484504	3/3	PASS	ENST00000264474	Transcript	.	.	ENSG00000121552	2481	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	CYTA_HUMAN	CSTA	HGNC	Q6IB90_HUMAN	.	UPI0000034363	SNV	CSTA,synonymous_variant,p.%3D,ENST00000264474,;CSTA,downstream_gene_variant,,ENST00000479204,;	328	148	158	SUCCESS
TMEM40	55287	.	GRCh37	3	12790175	12790175	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	25	0	ENST00000264728.8:c.190T>C	p.Ser64Pro	p.S64P	ENST00000264728		64	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS2613.1	190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAAGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16108	.	.	ENSP00000322837	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000314124	Transcript	.	.	ENSG00000088726	25620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious_low_confidence(0.01)	.	TMM40_HUMAN	TMEM40	HGNC	.	.	UPI00000732A9	SNV	TMEM40,missense_variant,p.Ser80Pro,ENST00000431022,;TMEM40,missense_variant,p.Ser64Pro,ENST00000435218,;TMEM40,missense_variant,p.Ser64Pro,ENST00000264728,;TMEM40,missense_variant,p.Ser64Pro,ENST00000314124,;TMEM40,intron_variant,,ENST00000435575,;	547	25	30	SUCCESS
PLXND1	23129	.	GRCh37	3	129284250	129284250	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1388658515	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	106	1	ENST00000324093.4:c.4454G>A	p.Arg1485His	p.R1485H	ENST00000324093	NM_015103.2	1485	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS33854.1	4454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCGCCGC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000317128	.	25/36	.	.	.	.	.	.	.	.	COSM273128	25/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Arg1485His,ENST00000324093,;PLXND1,missense_variant,p.Arg1485His,ENST00000393239,;PLXND1,upstream_gene_variant,,ENST00000506979,;PLXND1,missense_variant,p.Arg80His,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000503166,;PLXND1,downstream_gene_variant,,ENST00000514990,;PLXND1,upstream_gene_variant,,ENST00000512807,;PLXND1,upstream_gene_variant,,ENST00000504979,;PLXND1,upstream_gene_variant,,ENST00000508630,;	4633	107	97	SUCCESS
FAM86HP	729375	.	GRCh37	3	129824467	129824467	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	84	0	ENST00000513466.1:n.246C>T		p.*82*	ENST00000513466				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGCCTCG	NONE	.	.	.	.	.	.	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000513466	Transcript	.	.	ENSG00000253540	42359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM86HP	HGNC	.	.	.	SNV	FAM86HP,non_coding_transcript_exon_variant,,ENST00000500074,;FAM86HP,intron_variant,,ENST00000515245,;ALG1L2,intron_variant,,ENST00000511726,;FAM86HP,upstream_gene_variant,,ENST00000511564,;FAM86HP,upstream_gene_variant,,ENST00000506448,;FAM86HP,non_coding_transcript_exon_variant,,ENST00000513466,;	246	84	71	SUCCESS
DNAJC13	23317	.	GRCh37	3	132169658	132169658	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	73	211	0	ENST00000260818.6:c.504A>T	p.Gly168=	p.G168=	ENST00000260818	NM_015268.3	168	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33857.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGATTTTG	NONE	.	.	.	.	.	ENSP00000260818	.	6/56	.	.	.	.	.	.	.	.	.	6/56	PASS	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,synonymous_variant,p.%3D,ENST00000260818,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;	752	211	174	SUCCESS
NUP210	23225	.	GRCh37	3	13368741	13368741	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199638243	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	64	0	ENST00000254508.5:c.4483G>A	p.Ala1495Thr	p.A1495T	ENST00000254508	NM_024923.3	1495	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33704.1	4483	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCCAGAC	NONE	byCluster	.	hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	.	.	ENSP00000254508	.	32/40	.	.	.	.	.	.	.	.	rs199638243	32/40	PASS	ENST00000254508	Transcript	.	.	ENSG00000132182	30052	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.11)	.	PO210_HUMAN	NUP210	HGNC	.	.	UPI00001600AF	SNV	NUP210,missense_variant,p.Ala1495Thr,ENST00000254508,;	4566	64	44	SUCCESS
EPHB1	2047	.	GRCh37	3	134825375	134825375	+	synonymous_variant	Silent	SNP	G	G	A	rs199734379	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	48	116	0	ENST00000398015.3:c.891G>A	p.Ala297=	p.A297=	ENST00000398015	NM_004441.4	297	gcG/gcA	0	A:0.0003	A:0.0015	.	A:0	.	A	A	protein_coding	YES	CCDS46921.1	891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGTCTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF57184	A:0.001	A:0.0005	ENSP00000381097	A:0	4/16	.	.	.	.	.	.	.	.	rs199734379,COSM1484653,COSM1484652	4/16	PASS	ENST00000398015	Transcript	.	A:0.0006	ENSG00000154928	3392	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0	.	0,1,1	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,synonymous_variant,p.%3D,ENST00000398015,;EPHB1,5_prime_UTR_variant,,ENST00000493838,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488154,;EPHB1,3_prime_UTR_variant,,ENST00000482618,;	1261	116	100	SUCCESS
PPP2R3A	5523	.	GRCh37	3	135825069	135825069	+	synonymous_variant	Silent	SNP	C	C	T	rs1453517153	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	100	0	ENST00000264977.3:c.3234C>T	p.Asn1078=	p.N1078=	ENST00000264977	NM_001190447.1	1078	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS3087.1	3234	MUTECT|MUSE	.	GAGAACGATGG	NONE	.	.	hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3	.	.	ENSP00000264977	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000264977	Transcript	.	.	ENSG00000073711	9307	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P2R3A_HUMAN	PPP2R3A	HGNC	.	.	UPI0000124EAC	SNV	PPP2R3A,synonymous_variant,p.%3D,ENST00000490467,;PPP2R3A,synonymous_variant,p.%3D,ENST00000264977,;PPP2R3A,synonymous_variant,p.%3D,ENST00000334546,;PPP2R3A,non_coding_transcript_exon_variant,,ENST00000469270,;	3851	100	103	SUCCESS
STAG1	10274	.	GRCh37	3	136141653	136141653	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	6	175	0	ENST00000383202.2:c.1790A>C	p.Gln597Pro	p.Q597P	ENST00000383202	NM_005862.2	597	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS3090.1	1790	MUTECT|MUSE	.	AATACTGTGGG	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6	.	.	ENSP00000372689	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000383202	Transcript	.	.	ENSG00000118007	11354	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.103)	.	deleterious(0.02)	.	STAG1_HUMAN	STAG1	HGNC	Q4LE48_HUMAN	.	UPI000020A2DE	SNV	STAG1,missense_variant,p.Gln181Pro,ENST00000536929,;STAG1,missense_variant,p.Gln371Pro,ENST00000434713,;STAG1,missense_variant,p.Gln597Pro,ENST00000383202,;STAG1,missense_variant,p.Gln597Pro,ENST00000236698,;STAG1,downstream_gene_variant,,ENST00000492318,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;	2047	175	158	SUCCESS
ZBTB38	253461	.	GRCh37	3	141162007	141162007	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	101	0	ENST00000321464.5:c.780A>G	p.Lys260=	p.K260=	ENST00000321464		260	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS43157.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAAACCGAA	NONE	.	.	hmmpanther:PTHR24397:SF23,hmmpanther:PTHR24397	.	.	ENSP00000426387	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000514251	Transcript	.	.	ENSG00000177311	26636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT38_HUMAN	ZBTB38	HGNC	Q9H6F0_HUMAN,D6RJE1_HUMAN,D6RHD1_HUMAN,D6RGK1_HUMAN,D6RE69_HUMAN,D6RC86_HUMAN,D6RBC4_HUMAN,D6RAC4_HUMAN,D6R9U6_HUMAN,D6R9J6_HUMAN,D6R9I1_HUMAN,B3KST1_HUMAN	.	UPI000020A364	SNV	ZBTB38,synonymous_variant,p.%3D,ENST00000441582,;ZBTB38,synonymous_variant,p.%3D,ENST00000321464,;ZBTB38,synonymous_variant,p.%3D,ENST00000509883,;ZBTB38,synonymous_variant,p.%3D,ENST00000514251,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000509842,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	1056	101	106	SUCCESS
RASA2	5922	.	GRCh37	3	141206050	141206050	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779165383	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	8	239	0	ENST00000286364.3:c.125G>A	p.Gly42Asp	p.G42D	ENST00000286364		42	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS3117.1	125	MUTECT|MUSE	.	GCGGGGCAAGA	NONE	byFrequency	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000286364	.	1/24	.	.	.	.	.	.	.	.	rs779165383	1/24	PASS	ENST00000286364	Transcript	.	.	ENSG00000155903	9872	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.609)	.	deleterious(0.03)	.	RASA2_HUMAN	RASA2	HGNC	.	.	UPI00001351F5	SNV	RASA2,missense_variant,p.Gly42Asp,ENST00000286364,;RASA2,missense_variant,p.Gly42Asp,ENST00000452898,;RASA2,intron_variant,,ENST00000515549,;	160	239	222	SUCCESS
GK5	256356	.	GRCh37	3	141901813	141901813	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	117	0	ENST00000392993.2:c.895A>T	p.Thr299Ser	p.T299S	ENST00000392993	NM_001039547.2	299	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33871.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTCCCAG	NONE	.	.	hmmpanther:PTHR10196:SF54,hmmpanther:PTHR10196,Gene3D:3.30.420.40,Pfam_domain:PF02782,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000418001	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000392993	Transcript	.	.	ENSG00000175066	28635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	tolerated(0.28)	.	GLPK5_HUMAN	GK5	HGNC	.	.	UPI000069B0CB	SNV	GK5,missense_variant,p.Thr299Ser,ENST00000392993,;GK5,downstream_gene_variant,,ENST00000544571,;GK5,upstream_gene_variant,,ENST00000486459,;GK5,3_prime_UTR_variant,,ENST00000480757,;GK5,3_prime_UTR_variant,,ENST00000492097,;GK5,non_coding_transcript_exon_variant,,ENST00000460630,;GK5,non_coding_transcript_exon_variant,,ENST00000460515,;GK5,downstream_gene_variant,,ENST00000460544,;	1047	117	108	SUCCESS
U2SURP	23350	.	GRCh37	3	142747455	142747455	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	282	152	445	1	ENST00000473835.2:c.1577A>T	p.Glu526Val	p.E526V	ENST00000473835	NM_001080415.1	526	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS46928.1	1577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGAGGAAC	NONE	.	.	hmmpanther:PTHR23140	.	.	ENSP00000418563	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000473835	Transcript	.	.	ENSG00000163714	30855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.25)	.	SR140_HUMAN	U2SURP	HGNC	C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN	.	UPI0000160746	SNV	U2SURP,missense_variant,p.Glu526Val,ENST00000473835,;U2SURP,missense_variant,p.Glu93Val,ENST00000480029,;U2SURP,missense_variant,p.Glu117Val,ENST00000397933,;U2SURP,missense_variant,p.Glu525Val,ENST00000493598,;U2SURP,3_prime_UTR_variant,,ENST00000488497,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,non_coding_transcript_exon_variant,,ENST00000472373,;U2SURP,downstream_gene_variant,,ENST00000488587,;	1667	447	434	SUCCESS
ZIC1	7545	.	GRCh37	3	147128096	147128096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	84	0	ENST00000282928.4:c.197C>T	p.Ser66Leu	p.S66L	ENST00000282928	NM_003412.3	66	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3136.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGTCGCAGG	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26	.	.	ENSP00000282928	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	tolerated(0.21)	.	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	SNV	ZIC1,missense_variant,p.Ser66Leu,ENST00000282928,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000425731,;ZIC4,upstream_gene_variant,,ENST00000473123,;ZIC4,upstream_gene_variant,,ENST00000383075,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000491672,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	926	84	87	SUCCESS
C3orf20	84077	.	GRCh37	3	14724484	14724484	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	53	120	0	ENST00000253697.3:c.264C>T	p.Val88=	p.V88=	ENST00000253697	NM_032137.4	88	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33706.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	.	.	ENSP00000253697	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000253697	Transcript	.	.	ENSG00000131379	25320	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC020_HUMAN	C3orf20	HGNC	.	.	UPI000013CDE9	SNV	C3orf20,synonymous_variant,p.%3D,ENST00000253697,;C3orf20,splice_region_variant,,ENST00000435614,;C3orf20,splice_region_variant,,ENST00000412910,;	716	120	131	SUCCESS
CPA3	1359	.	GRCh37	3	148599317	148599317	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	96	0	ENST00000296046.3:c.585A>C	p.Lys195Asn	p.K195N	ENST00000296046	NM_001870.2	195	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS3138.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAAACTTA	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF65,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000296046	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000296046	Transcript	.	.	ENSG00000163751	2298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	tolerated(0.28)	.	CBPA3_HUMAN	CPA3	HGNC	.	.	UPI000013E2F4	SNV	CPA3,missense_variant,p.Lys195Asn,ENST00000296046,;RP11-680B3.2,intron_variant,,ENST00000488190,;CPA3,non_coding_transcript_exon_variant,,ENST00000477926,;	637	96	100	SUCCESS
EIF2A	83939	.	GRCh37	3	150264602	150264602	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770906744	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	53	0	ENST00000460851.1:c.13A>G	p.Thr5Ala	p.T5A	ENST00000460851		5	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46935.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCACGCCG	NONE	byFrequency	.	hmmpanther:PTHR13227,PIRSF_domain:PIRSF017222	.	.	ENSP00000417229	.	1/14	.	.	.	.	.	.	.	.	rs770906744	1/14	PASS	ENST00000460851	Transcript	.	.	ENSG00000144895	3254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	EIF2A_HUMAN	EIF2A	HGNC	.	.	UPI00000473DB	SNV	EIF2A,missense_variant,p.Thr5Ala,ENST00000460851,;EIF2A,missense_variant,p.Thr5Ala,ENST00000406576,;EIF2A,missense_variant,p.Thr5Ala,ENST00000482093,;EIF2A,missense_variant,p.Thr5Ala,ENST00000487799,;EIF2A,missense_variant,p.Thr5Ala,ENST00000273435,;SERP1,5_prime_UTR_variant,,ENST00000479209,;SERP1,upstream_gene_variant,,ENST00000487153,;SERP1,upstream_gene_variant,,ENST00000239944,;SERP1,upstream_gene_variant,,ENST00000491660,;SERP1,non_coding_transcript_exon_variant,,ENST00000491195,;EIF2A,start_lost,p.His1?,ENST00000462221,;EIF2A,missense_variant,p.Thr5Ala,ENST00000494558,;EIF2A,missense_variant,p.Thr5Ala,ENST00000490505,;EIF2A,non_coding_transcript_exon_variant,,ENST00000474505,;EIF2A,non_coding_transcript_exon_variant,,ENST00000469331,;EIF2A,non_coding_transcript_exon_variant,,ENST00000473499,;EIF2A,non_coding_transcript_exon_variant,,ENST00000463863,;	122	53	52	SUCCESS
NR2C2	7182	.	GRCh37	3	15057748	15057748	+	synonymous_variant	Silent	SNP	C	C	T	rs369008989	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	36	150	0	ENST00000393102.3:c.363C>T	p.Gly121=	p.G121=	ENST00000393102		121	ggC/ggT	0	T:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS2621.1	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCGACAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF48,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	T:0	ENSP00000320447	.	5/15	.	.	.	.	.	.	.	.	rs369008989,COSM3003188	5/15	PASS	ENST00000323373	Transcript	.	.	ENSG00000177463	7972	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NR2C2_HUMAN	NR2C2	HGNC	F2YGU2_HUMAN,C9J2Y1_HUMAN	.	UPI00001AF3B4	SNV	NR2C2,synonymous_variant,p.%3D,ENST00000393102,;NR2C2,synonymous_variant,p.%3D,ENST00000406272,;NR2C2,synonymous_variant,p.%3D,ENST00000425241,;NR2C2,synonymous_variant,p.%3D,ENST00000437120,;NR2C2,synonymous_variant,p.%3D,ENST00000323373,;NR2C2,downstream_gene_variant,,ENST00000413118,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;	637	150	105	SUCCESS
GPR87	53836	.	GRCh37	3	151012803	151012803	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	121	0	ENST00000260843.4:c.231A>G	p.Ile77Met	p.I77M	ENST00000260843	NM_023915.3	77	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3157.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAATATGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF8,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000260843	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000260843	Transcript	.	.	ENSG00000138271	4538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GPR87_HUMAN	GPR87	HGNC	.	.	UPI000003C9FF	SNV	GPR87,missense_variant,p.Ile77Met,ENST00000260843,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000491549,;	696	121	88	SUCCESS
P2RY13	53829	.	GRCh37	3	151046419	151046419	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	84	232	0	ENST00000325602.5:c.425T>C	p.Phe142Ser	p.F142S	ENST00000325602	NM_176894.2	142	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS3158.2	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGAATCTG	NONE	.	.	Prints_domain:PR01735,Prints_domain:PR00237,Prints_domain:PR01157,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_patterns:PS00237,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF7,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000320376	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325602	Transcript	.	.	ENSG00000181631	4537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	P2Y13_HUMAN	P2RY13	HGNC	.	.	UPI000020A470	SNV	P2RY13,missense_variant,p.Phe142Ser,ENST00000325602,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	445	232	267	SUCCESS
ZFYVE20	0	.	GRCh37	3	15116270	15116270	+	synonymous_variant	Silent	SNP	C	C	T	rs551879008	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	90	0	ENST00000253699.3:c.1374G>A	p.Pro458=	p.P458=	ENST00000253699	NM_022340.2	458	ccG/ccA	0	.	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS2623.1	1374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGGGTC	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF140125,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510	T:0	.	ENSP00000253699	T:0.001	14/14	.	.	.	.	.	.	.	.	rs551879008	14/14	PASS	ENST00000253699	Transcript	.	T:0.0004	ENSG00000131381	20759	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RBNS5_HUMAN	ZFYVE20	HGNC	D6RD50_HUMAN	.	UPI0000051CE0	SNV	ZFYVE20,synonymous_variant,p.%3D,ENST00000253699,;ZFYVE20,synonymous_variant,p.%3D,ENST00000476527,;ZFYVE20,downstream_gene_variant,,ENST00000483098,;ZFYVE20,downstream_gene_variant,,ENST00000449964,;ZFYVE20,downstream_gene_variant,,ENST00000426541,;	1988	90	90	SUCCESS
P2RY1	5028	.	GRCh37	3	152554282	152554282	+	synonymous_variant	Silent	SNP	C	C	T	rs748490359	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	46	89	0	ENST00000305097.3:c.711C>T	p.Tyr237=	p.Y237=	ENST00000305097	NM_002563.3	237	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS3169.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTACGGATT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01157	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	rs748490359,COSM4114586	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,synonymous_variant,p.%3D,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	1547	89	106	SUCCESS
ARHGEF26	26084	.	GRCh37	3	153912436	153912436	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	65	171	0	ENST00000356448.4:c.1774A>G	p.Ile592Val	p.I592V	ENST00000356448	NM_001251962.1	592	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46938.1	1774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTATCTGT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000348828	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000356448	Transcript	.	.	ENSG00000114790	24490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	tolerated(0.18)	.	ARHGQ_HUMAN	ARHGEF26	HGNC	.	.	UPI00001410D0	SNV	ARHGEF26,missense_variant,p.Ile592Val,ENST00000465093,;ARHGEF26,missense_variant,p.Ile592Val,ENST00000356448,;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,missense_variant,p.Ile592Val,ENST00000496710,;	2058	171	177	SUCCESS
GPR149	344758	.	GRCh37	3	154146778	154146778	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	82	246	0	ENST00000389740.2:c.627A>G	p.Ser209=	p.S209=	ENST00000389740	NM_001038705.1	209	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43162.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTGAGAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF32,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000374390	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,synonymous_variant,p.%3D,ENST00000389740,;	727	246	207	SUCCESS
KCNAB1	7881	.	GRCh37	3	155861202	155861202	+	intron_variant	Intron	SNP	G	G	A	rs890010270	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	40	118	0	ENST00000490337.1:c.275+22527G>A		p.*92*	ENST00000490337	NM_172160.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3174.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGGCATAC	NONE	.	.	.	.	.	ENSP00000419952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,missense_variant,p.Ala79Thr,ENST00000471742,;KCNAB1,intron_variant,,ENST00000490337,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000389636,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,intron_variant,,ENST00000478609,;	.	118	80	SUCCESS
DAZL	1618	.	GRCh37	3	16639957	16639957	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	51	0	ENST00000399444.2:c.150+2T>C		p.X50_splice	ENST00000399444	NM_001351.3	50		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54556.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATACCCTA	NONE	.	.	.	.	.	ENSP00000250863	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000250863	Transcript	.	.	ENSG00000092345	2685	.	.	HIGH	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAZL_HUMAN	DAZL	HGNC	.	.	UPI0000412129	SNV	DAZL,splice_donor_variant,,ENST00000454457,;DAZL,splice_donor_variant,,ENST00000399444,;DAZL,splice_donor_variant,,ENST00000250863,;	.	51	39	SUCCESS
PLD1	5337	.	GRCh37	3	171453412	171453412	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	72	128	0	ENST00000351298.4:c.304C>T	p.Leu102Phe	p.L102F	ENST00000351298	NM_002662.4	102	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3216.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAAGATTAA	NONE	.	.	PROSITE_profiles:PS50195,hmmpanther:PTHR18896:SF57,hmmpanther:PTHR18896,Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF009376,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000342793	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000351298	Transcript	.	.	ENSG00000075651	9067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.01)	.	PLD1_HUMAN	PLD1	HGNC	C9IY79_HUMAN	.	UPI0000131BDC	SNV	PLD1,missense_variant,p.Leu102Phe,ENST00000356327,;PLD1,missense_variant,p.Leu102Phe,ENST00000340989,;PLD1,missense_variant,p.Leu102Phe,ENST00000342215,;PLD1,missense_variant,p.Leu102Phe,ENST00000418087,;PLD1,missense_variant,p.Leu102Phe,ENST00000351298,;PLD1,non_coding_transcript_exon_variant,,ENST00000475273,;PLD1,3_prime_UTR_variant,,ENST00000440204,;PLD1,non_coding_transcript_exon_variant,,ENST00000498278,;	431	128	142	SUCCESS
KCNMB2	10242	.	GRCh37	3	178525220	178525220	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769870548	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	96	0	ENST00000358316.3:c.23G>A	p.Arg8Gln	p.R8Q	ENST00000358316		8	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3223.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGACCT	NONE	.	.	Gene3D:1jo6A00,Pfam_domain:PF09303,hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF5	.	.	ENSP00000407592	.	2/5	.	.	.	.	.	.	.	.	rs769870548,COSM4149675	2/5	PASS	ENST00000432997	Transcript	.	.	ENSG00000197584	6286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.015)	.	tolerated(0.06)	0,1	KCMB2_HUMAN	KCNMB2	HGNC	E7ETM2_HUMAN,E7EM81_HUMAN,B7Z513_HUMAN,B5BNW5_HUMAN	.	UPI0000073DCA	SNV	KCNMB2,missense_variant,p.Arg8Gln,ENST00000455865,;KCNMB2,missense_variant,p.Arg8Gln,ENST00000452583,;KCNMB2,missense_variant,p.Arg8Gln,ENST00000358316,;KCNMB2,missense_variant,p.Arg8Gln,ENST00000432997,;KCNMB2,missense_variant,p.Arg8Gln,ENST00000437510,;KCNMB2,missense_variant,p.Arg8Gln,ENST00000420517,;RP11-385J1.2,intron_variant,,ENST00000451742,;RP11-385J1.2,intron_variant,,ENST00000425330,;RP11-385J1.2,intron_variant,,ENST00000437488,;RP11-385J1.2,intron_variant,,ENST00000432385,;KCNMB2,non_coding_transcript_exon_variant,,ENST00000436247,;KCNMB2,non_coding_transcript_exon_variant,,ENST00000470361,;KCNMB2,missense_variant,p.Arg8Gln,ENST00000422927,;	375	96	83	SUCCESS
USP13	8975	.	GRCh37	3	179448452	179448452	+	synonymous_variant	Silent	SNP	G	G	A	rs776585614	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	54	144	0	ENST00000263966.3:c.1209G>A	p.Pro403=	p.P403=	ENST00000263966	NM_003940.2	403	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3235.1	1209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGGTGAA	NONE	byFrequency	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF426,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001	.	.	ENSP00000263966	.	10/21	.	.	.	.	.	.	.	.	rs776585614	10/21	PASS	ENST00000263966	Transcript	.	.	ENSG00000058056	12611	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP13_HUMAN	USP13	HGNC	.	.	UPI000006DC10	SNV	USP13,synonymous_variant,p.%3D,ENST00000263966,;USP13,synonymous_variant,p.%3D,ENST00000496897,;USP13,synonymous_variant,p.%3D,ENST00000497155,;USP13,non_coding_transcript_exon_variant,,ENST00000482333,;	1680	144	134	SUCCESS
CCDC39	339829	.	GRCh37	3	180378451	180378451	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	81	0	ENST00000442201.2:c.423A>C	p.Gln141His	p.Q141H	ENST00000442201	NM_181426.1	141	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS46964.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTTGCTG	NONE	.	.	hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	deleterious(0)	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,missense_variant,p.Gln225His,ENST00000273654,;CCDC39,missense_variant,p.Gln141His,ENST00000442201,;CCDC39,downstream_gene_variant,,ENST00000471307,;CCDC39,missense_variant,p.Gln141His,ENST00000476379,;	543	81	86	SUCCESS
B3GNT5	84002	.	GRCh37	3	182988028	182988028	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	59	150	0	ENST00000326505.3:c.442T>C	p.Trp148Arg	p.W148R	ENST00000326505	NM_032047.4	148	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS3244.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTTGGGAA	NONE	.	.	hmmpanther:PTHR11214:SF21,hmmpanther:PTHR11214,Pfam_domain:PF01762	.	.	ENSP00000316173	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326505	Transcript	.	.	ENSG00000176597	15684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.39)	.	B3GN5_HUMAN	B3GNT5	HGNC	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN	.	UPI000003D75E	SNV	B3GNT5,missense_variant,p.Trp148Arg,ENST00000460419,;B3GNT5,missense_variant,p.Trp148Arg,ENST00000326505,;B3GNT5,missense_variant,p.Trp148Arg,ENST00000465010,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000481531,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;	972	150	149	SUCCESS
VWA5B2	90113	.	GRCh37	3	183952090	183952090	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	50	104	0	ENST00000426955.2:c.731del	p.Pro244LeufsTer37	p.P244Lfs*37	ENST00000426955	NM_138345.1	242	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS54686.1	725	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGATGCCCCCC	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	deletion	VWA5B2,frameshift_variant,p.Pro25LeufsTer37,ENST00000273794,;VWA5B2,frameshift_variant,p.Pro244LeufsTer37,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000497229,;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;	825	104	156	SUCCESS
VWA5B2	90113	.	GRCh37	3	183955189	183955189	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	72	0	ENST00000426955.2:c.1709G>A	p.Arg570His	p.R570H	ENST00000426955	NM_138345.1	570	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS54686.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGCCCAC	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	11/19	.	.	.	.	.	.	.	.	COSM1421304	11/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.2)	1	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Arg351His,ENST00000273794,;VWA5B2,missense_variant,p.Arg570His,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,upstream_gene_variant,,ENST00000408193,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000411922,;VWA5B2,downstream_gene_variant,,ENST00000497229,;VWA5B2,downstream_gene_variant,,ENST00000474580,;	1809	72	61	SUCCESS
DGKG	1608	.	GRCh37	3	185975727	185975727	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	rs983291969	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	96	0	ENST00000265022.3:c.1426T>G	p.Leu476Val	p.L476V	ENST00000265022	NM_001080744.1	476	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS3274.1	1426	MUTECT|MUSE	.	GTTCAACCTGG	NONE	.	.	PROSITE_profiles:PS50146,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,Pfam_domain:PF00781,SMART_domains:SM00046,Superfamily_domains:SSF111331	.	.	ENSP00000265022	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000265022	Transcript	.	.	ENSG00000058866	2853	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.816)	.	deleterious(0)	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,missense_variant,p.Leu417Val,ENST00000544847,;DGKG,missense_variant,p.Leu437Val,ENST00000382164,;DGKG,missense_variant,p.Leu476Val,ENST00000265022,;DGKG,missense_variant,p.Leu451Val,ENST00000344484,;DGKG,splice_region_variant,,ENST00000480809,;DGKG,splice_region_variant,,ENST00000480933,;	1966	96	91	SUCCESS
IL1RAP	3556	.	GRCh37	3	190338162	190338162	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	125	0	ENST00000072516.3:c.636T>C	p.Cys212=	p.C212=	ENST00000072516	NM_001167929.1	212	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS54696.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTGTTGT	NONE	.	.	Prints_domain:PR01536,Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,hmmpanther:PTHR11890:SF21,hmmpanther:PTHR11890,PROSITE_profiles:PS50835	.	.	ENSP00000314807	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000317757	Transcript	.	.	ENSG00000196083	5995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL1AP_HUMAN	IL1RAP	HGNC	Q8N9C1_HUMAN,C9JT28_HUMAN,C9J1D9_HUMAN	.	UPI000020A9C1	SNV	IL1RAP,synonymous_variant,p.%3D,ENST00000412080,;IL1RAP,synonymous_variant,p.%3D,ENST00000434491,;IL1RAP,synonymous_variant,p.%3D,ENST00000439062,;IL1RAP,synonymous_variant,p.%3D,ENST00000422940,;IL1RAP,synonymous_variant,p.%3D,ENST00000422485,;IL1RAP,synonymous_variant,p.%3D,ENST00000317757,;IL1RAP,synonymous_variant,p.%3D,ENST00000412504,;IL1RAP,synonymous_variant,p.%3D,ENST00000072516,;IL1RAP,synonymous_variant,p.%3D,ENST00000447382,;IL1RAP,synonymous_variant,p.%3D,ENST00000443369,;IL1RAP,synonymous_variant,p.%3D,ENST00000413869,;IL1RAP,synonymous_variant,p.%3D,ENST00000342550,;GCNT1P3,upstream_gene_variant,,ENST00000450607,;	842	125	91	SUCCESS
MUC4	4585	.	GRCh37	3	195475922	195475922	+	synonymous_variant	Silent	SNP	C	C	T	rs752078558	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	50	0	ENST00000463781.3:c.15885G>A	p.Thr5295=	p.T5295=	ENST00000463781	NM_018406.6	5295	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54700.1	15885	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCGTGCT	NONE	byFrequency	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	24/25	.	.	.	.	.	.	.	.	rs752078558	24/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000346145,;MUC4,synonymous_variant,p.%3D,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,non_coding_transcript_exon_variant,,ENST00000464234,;MUC4,downstream_gene_variant,,ENST00000469992,;MUC4,downstream_gene_variant,,ENST00000467235,;	16345	50	43	SUCCESS
PIGZ	80235	.	GRCh37	3	196674785	196674785	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	41	94	1	ENST00000412723.1:c.983T>C	p.Val328Ala	p.V328A	ENST00000412723	NM_025163.3	328	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3324.1	983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCACCCCG	NONE	.	.	hmmpanther:PTHR22760:SF3,hmmpanther:PTHR22760,Pfam_domain:PF03901	.	.	ENSP00000413405	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000412723	Transcript	.	.	ENSG00000119227	30596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.05)	.	PIGZ_HUMAN	PIGZ	HGNC	.	.	UPI000013CA2C	SNV	PIGZ,missense_variant,p.Val328Ala,ENST00000412723,;PIGZ,3_prime_UTR_variant,,ENST00000413127,;PIGZ,downstream_gene_variant,,ENST00000443835,;NCBP2-AS2,downstream_gene_variant,,ENST00000602845,;PIGZ,downstream_gene_variant,,ENST00000238138,;	1130	95	79	SUCCESS
UBE2E2	7325	.	GRCh37	3	23631290	23631290	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	129	333	0	ENST00000396703.1:c.574G>A	p.Ala192Thr	p.A192T	ENST00000396703	NM_152653.3	192	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2637.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGCCAGA	NONE	.	.	hmmpanther:PTHR24068:SF26,hmmpanther:PTHR24068,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000379931	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000396703	Transcript	.	.	ENSG00000182247	12478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	UB2E2_HUMAN	UBE2E2	HGNC	.	.	UPI0000071DA3	SNV	UBE2E2,missense_variant,p.Ala192Thr,ENST00000425792,;UBE2E2,missense_variant,p.Ala192Thr,ENST00000396703,;UBE2E2,3_prime_UTR_variant,,ENST00000335798,;	754	333	317	SUCCESS
PDCD6IP	10015	.	GRCh37	3	33885697	33885697	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	336	188	596	0	ENST00000307296.3:c.1453T>C	p.Tyr485His	p.Y485H	ENST00000307296		485	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS54561.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTATAAG	NONE	.	.	hmmpanther:PTHR23030:SF19,hmmpanther:PTHR23030,Pfam_domain:PF13949,Gene3D:2xs1A03	.	.	ENSP00000411825	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000457054	Transcript	.	.	ENSG00000170248	8766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.05)	.	PDC6I_HUMAN	PDCD6IP	HGNC	.	.	UPI00004121D3	SNV	PDCD6IP,missense_variant,p.Tyr490His,ENST00000457054,;PDCD6IP,missense_variant,p.Tyr485His,ENST00000307296,;PDCD6IP,3_prime_UTR_variant,,ENST00000412887,;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000465122,;	1623	596	524	SUCCESS
TRANK1	9881	.	GRCh37	3	36872532	36872532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	6	108	0	ENST00000429976.2:c.8410G>A	p.Ala2804Thr	p.A2804T	ENST00000429976		2804	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46789.2	8410	MUTECT|MUSE	.	AATGGCCGGGT	BUFFER|p.P2803P|c.8409G>A|3,BUFFER|p.P2253P|c.6759G>A|3,BUFFER|p.P2246P|c.6738G>A|3	.	.	hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	.	.	ENSP00000416168	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000429976	Transcript	.	.	ENSG00000168016	29011	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.199)	.	tolerated(0.31)	.	TRNK1_HUMAN	TRANK1	HGNC	B7WP88_HUMAN	.	UPI00017BE82B	SNV	TRANK1,missense_variant,p.Ala2254Thr,ENST00000428977,;TRANK1,missense_variant,p.Ala2254Thr,ENST00000301807,;TRANK1,missense_variant,p.Ala2804Thr,ENST00000429976,;	8658	108	96	SUCCESS
TRANK1	9881	.	GRCh37	3	36875360	36875360	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	59	0	ENST00000429976.2:c.5582A>G	p.Tyr1861Cys	p.Y1861C	ENST00000429976		1861	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46789.2	5582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATAGGAG	NONE	.	.	hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	.	.	ENSP00000416168	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000429976	Transcript	.	.	ENSG00000168016	29011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.17)	.	TRNK1_HUMAN	TRANK1	HGNC	B7WP88_HUMAN	.	UPI00017BE82B	SNV	TRANK1,missense_variant,p.Tyr1311Cys,ENST00000428977,;TRANK1,missense_variant,p.Tyr1311Cys,ENST00000301807,;TRANK1,missense_variant,p.Tyr1861Cys,ENST00000429976,;	5830	59	51	SUCCESS
EPM2AIP1	9852	.	GRCh37	3	37032816	37032816	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750898931	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	9	169	0	ENST00000322716.5:c.1753C>T	p.Arg585Trp	p.R585W	ENST00000322716	NM_014805.3	585	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS46790.1	1753	MUTECT|MUSE	.	AACCCGAAACA	NONE	.	.	hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697	.	.	ENSP00000406027	.	1/1	.	.	.	.	.	.	.	.	rs750898931	1/1	PASS	ENST00000322716	Transcript	.	.	ENSG00000178567	19735	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EPMIP_HUMAN	EPM2AIP1	HGNC	.	.	UPI0000073486	SNV	EPM2AIP1,missense_variant,p.Arg585Trp,ENST00000322716,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000231790,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000456676,;MLH1,upstream_gene_variant,,ENST00000539477,;MLH1,upstream_gene_variant,,ENST00000458205,;MLH1,upstream_gene_variant,,ENST00000435176,;MLH1,upstream_gene_variant,,ENST00000536378,;RP11-129K12.3,upstream_gene_variant,,ENST00000607164,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000442249,;MLH1,upstream_gene_variant,,ENST00000454028,;	1980	169	156	SUCCESS
MLH1	4292	.	GRCh37	3	37035301	37035301	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	14	0	ENST00000231790.2:c.116+147C>T		p.*39*	ENST00000231790	NM_000249.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2663.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGCCAGTC	NONE	.	.	.	.	.	ENSP00000231790	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231790	Transcript	.	.	ENSG00000076242	7127	.	.	MODIFIER	1/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MLH1_HUMAN	MLH1	HGNC	Q5GJ64_HUMAN,F2Z298_HUMAN,E7EUC9_HUMAN,C4PFY8_HUMAN,B7Z821_HUMAN,A8W2I7_HUMAN	.	UPI0000000C7E	SNV	MLH1,5_prime_UTR_variant,,ENST00000455445,;MLH1,5_prime_UTR_variant,,ENST00000441265,;MLH1,5_prime_UTR_variant,,ENST00000539477,;MLH1,5_prime_UTR_variant,,ENST00000458205,;MLH1,5_prime_UTR_variant,,ENST00000435176,;MLH1,intron_variant,,ENST00000231790,;MLH1,intron_variant,,ENST00000456676,;MLH1,upstream_gene_variant,,ENST00000429117,;EPM2AIP1,upstream_gene_variant,,ENST00000322716,;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,non_coding_transcript_exon_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,3_prime_UTR_variant,,ENST00000432299,;MLH1,intron_variant,,ENST00000457004,;MLH1,intron_variant,,ENST00000442249,;MLH1,intron_variant,,ENST00000454028,;	.	14	23	SUCCESS
ITGA9	3680	.	GRCh37	3	37821428	37821428	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	100	0	ENST00000264741.5:c.2703A>G	p.Ala901=	p.A901=	ENST00000264741	NM_002207.2	901	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS2669.1	2703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCACACTG	NONE	.	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000264741	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,synonymous_variant,p.%3D,ENST00000264741,;ITGA9,upstream_gene_variant,,ENST00000411817,;AC093415.2,intron_variant,,ENST00000438136,;	2959	100	72	SUCCESS
WDR48	57599	.	GRCh37	3	39125659	39125659	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs112491258	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	99	0	ENST00000302313.5:c.1187A>T	p.Glu396Val	p.E396V	ENST00000302313	NM_020839.2	396	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33738.1	1187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGAAGATC	NONE	.	.	hmmpanther:PTHR19862,Pfam_domain:PF11816	.	.	ENSP00000307491	.	12/19	.	.	.	.	.	.	.	.	rs112491258	12/19	PASS	ENST00000302313	Transcript	.	.	ENSG00000114742	30914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	deleterious(0.02)	.	WDR48_HUMAN	WDR48	HGNC	F8W7Y5_HUMAN,C9JC24_HUMAN	.	UPI000006FF8C	SNV	WDR48,missense_variant,p.Glu121Val,ENST00000544962,;WDR48,missense_variant,p.Glu396Val,ENST00000302313,;WDR48,missense_variant,p.Glu314Val,ENST00000396258,;WDR48,5_prime_UTR_variant,,ENST00000418020,;WDR48,non_coding_transcript_exon_variant,,ENST00000463198,;WDR48,non_coding_transcript_exon_variant,,ENST00000489838,;WDR48,upstream_gene_variant,,ENST00000477197,;WDR48,3_prime_UTR_variant,,ENST00000413099,;WDR48,3_prime_UTR_variant,,ENST00000420940,;	1215	99	96	SUCCESS
CCR8	1237	.	GRCh37	3	39374347	39374347	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	81	0	ENST00000326306.4:c.525C>A	p.Ala175=	p.A175=	ENST00000326306	NM_005201.3	175	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2684.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCTCTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF11,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326432	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326306	Transcript	.	.	ENSG00000179934	1609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR8_HUMAN	CCR8	HGNC	.	.	UPI0000043587	SNV	CCR8,missense_variant,p.Leu118Ile,ENST00000414803,;CCR8,synonymous_variant,p.%3D,ENST00000326306,;CCR8,synonymous_variant,p.%3D,ENST00000545843,;HNRNPA1P21,upstream_gene_variant,,ENST00000424115,;	663	81	89	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913409	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	64	149	0	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45F|c.134C>T|518,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45Y|c.134C>A|27,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.954)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	149	172	SUCCESS
ZNF35	7584	.	GRCh37	3	44700367	44700367	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	477	12	529	0	ENST00000396056.2:c.512A>G	p.Lys171Arg	p.K171R	ENST00000396056	NM_003420.3	171	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2718.2	512	MUTECT|MUSE	.	AGAAAAGAAAG	NONE	.	.	hmmpanther:PTHR24381:SF60,hmmpanther:PTHR24381	.	.	ENSP00000379368	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396056	Transcript	.	.	ENSG00000169981	13099	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.05)	.	ZNF35_HUMAN	ZNF35	HGNC	C9JGS9_HUMAN,C9JGR2_HUMAN,B4DUB8_HUMAN	.	UPI000020A5BF	SNV	ZNF35,missense_variant,p.Lys171Arg,ENST00000396056,;ZNF35,missense_variant,p.Lys11Arg,ENST00000542250,;ZNF35,3_prime_UTR_variant,,ENST00000453164,;ZNF35,3_prime_UTR_variant,,ENST00000296092,;ZNF35,3_prime_UTR_variant,,ENST00000399560,;ZNF35,downstream_gene_variant,,ENST00000415571,;RP11-944L7.4,intron_variant,,ENST00000457331,;	747	529	489	SUCCESS
FYCO1	79443	.	GRCh37	3	46008574	46008574	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	51	0	ENST00000296137.2:c.2252A>G	p.Lys751Arg	p.K751R	ENST00000296137	NM_024513.3	751	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS2734.1	2252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTTTCTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851	.	.	ENSP00000296137	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.04)	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,missense_variant,p.Lys751Arg,ENST00000296137,;FYCO1,missense_variant,p.Lys751Arg,ENST00000535325,;	2458	51	38	SUCCESS
CCR3	1232	.	GRCh37	3	46307586	46307586	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777668503	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	55	0	ENST00000357422.2:c.937C>T	p.Arg313Cys	p.R313C	ENST00000357422		313	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS54574.1	1000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCGCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF13,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657	.	.	ENSP00000441600	.	3/3	.	.	.	.	.	.	.	.	rs777668503	3/3	PASS	ENST00000545097	Transcript	.	.	ENSG00000183625	1604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.18)	.	CCR3_HUMAN	CCR3	HGNC	Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN	.	UPI000020A60F	SNV	CCR3,missense_variant,p.Arg334Cys,ENST00000545097,;CCR3,missense_variant,p.Arg313Cys,ENST00000395940,;CCR3,missense_variant,p.Arg313Cys,ENST00000395942,;CCR3,missense_variant,p.Arg313Cys,ENST00000357422,;CCR3,missense_variant,p.Arg313Cys,ENST00000541018,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000484025,;CCR3,downstream_gene_variant,,ENST00000475150,;	1175	55	73	SUCCESS
TDGF1	6997	.	GRCh37	3	46619474	46619474	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	64	0	ENST00000296145.5:c.15G>T	p.Lys5Asn	p.K5N	ENST00000296145	NM_003212.3	5	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2742.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGATGGC	NONE	.	.	PIRSF_domain:PIRSF036301	.	.	ENSP00000296145	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000296145	Transcript	.	.	ENSG00000241186	11701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious_low_confidence(0.02)	.	TDGF1_HUMAN	TDGF1	HGNC	F5H1T8_HUMAN	.	UPI000004966D	SNV	TDGF1,missense_variant,p.Lys5Asn,ENST00000296145,;LRRC2,intron_variant,,ENST00000296144,;TDGF1,intron_variant,,ENST00000542931,;TDGF1,upstream_gene_variant,,ENST00000505797,;TDGF1,non_coding_transcript_exon_variant,,ENST00000493282,;TDGF1,non_coding_transcript_exon_variant,,ENST00000471721,;TDGF1,upstream_gene_variant,,ENST00000459867,;	748	64	61	SUCCESS
NBEAL2	23218	.	GRCh37	3	47047032	47047032	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	6	140	0	ENST00000450053.3:c.6614G>T	p.Arg2205Leu	p.R2205L	ENST00000450053	NM_015175.2	2205	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS46817.1	6614	MUTECT|MUSE	.	GGCACGCCTGG	NONE	.	.	PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	.	.	ENSP00000415034	.	41/54	.	.	.	.	.	.	.	.	.	41/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(1)	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Arg2205Leu,ENST00000450053,;NBEAL2,missense_variant,p.Arg32Leu,ENST00000423436,;NBEAL2,missense_variant,p.Arg2021Leu,ENST00000292309,;NBEAL2,missense_variant,p.Arg1493Leu,ENST00000416683,;NBEAL2,missense_variant,p.Arg484Leu,ENST00000383740,;NBEAL2,missense_variant,p.Arg574Leu,ENST00000443829,;NBEAL2,3_prime_UTR_variant,,ENST00000441027,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000469349,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000477412,;	6793	140	134	SUCCESS
PTPN23	25930	.	GRCh37	3	47451532	47451532	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	22	242	0	ENST00000265562.4:c.2249del	p.Pro750LeufsTer53	p.P750Lfs*53	ENST00000265562	NM_015466.2	748	ctC/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS2754.1	2244	INDELOCATOR|VARSCANI	.	CAGCCTCCCCCC	NONE	.	.	hmmpanther:PTHR19134:SF27,hmmpanther:PTHR19134	.	.	ENSP00000265562	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000265562	Transcript	.	.	ENSG00000076201	14406	5	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTN23_HUMAN	PTPN23	HGNC	B4DST5_HUMAN	.	UPI000006EBC4	deletion	PTPN23,frameshift_variant,p.Pro624LeufsTer53,ENST00000431726,;PTPN23,frameshift_variant,p.Pro750LeufsTer53,ENST00000265562,;SCAP,downstream_gene_variant,,ENST00000545718,;SCAP,downstream_gene_variant,,ENST00000441517,;PTPN23,downstream_gene_variant,,ENST00000456221,;SCAP,downstream_gene_variant,,ENST00000265565,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;PTPN23,non_coding_transcript_exon_variant,,ENST00000495653,;PTPN23,downstream_gene_variant,,ENST00000477276,;SCAP,downstream_gene_variant,,ENST00000320017,;	2321	242	228	SUCCESS
SCAP	22937	.	GRCh37	3	47455478	47455481	+	frameshift_variant	Frame_Shift_Del	DEL	CTGT	CTGT	-	rs746678809	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	CTGT	CTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	72	0	ENST00000265565.5:c.3703_3706del	p.Thr1235SerfsTer?	p.T1235Sfs*?	ENST00000265565	NM_012235.2	1235	ACAGtc/tc	0	.	.	.	.	.	-	TV/X	protein_coding	YES	CCDS2755.2	3703-3706	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTAGACTGTCTGTA	NONE	.	.	PROSITE_profiles:PS50294,Gene3D:2.130.10.10	.	.	ENSP00000265565	.	23/23	.	.	.	.	.	.	.	.	rs746678809	23/23	PASS	ENST00000265565	Transcript	.	.	ENSG00000114650	30634	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCAP_HUMAN	SCAP	HGNC	D6RA39_HUMAN,C9JQ35_HUMAN	.	UPI0000135624	deletion	SCAP,frameshift_variant,p.Thr842SerfsTer?,ENST00000545718,;SCAP,frameshift_variant,p.Thr979SerfsTer?,ENST00000441517,;SCAP,frameshift_variant,p.Thr1235SerfsTer?,ENST00000265565,;PTPN23,downstream_gene_variant,,ENST00000431726,;PTPN23,downstream_gene_variant,,ENST00000265562,;SCAP,3_prime_UTR_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000602307,;PTPN23,downstream_gene_variant,,ENST00000495653,;	4116-4119	72	83	SUCCESS
SCAP	22937	.	GRCh37	3	47461047	47461048	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs1229536681	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	144	50	161	0	ENST00000265565.5:c.1710dup	p.Ser571GlnfsTer13	p.S571Qfs*13	ENST00000265565	NM_012235.2	570	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS2755.2	1710-1711	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCTGGGGG	NONE	.	.	hmmpanther:PTHR10796:SF53,hmmpanther:PTHR10796	.	.	ENSP00000265565	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000265565	Transcript	.	.	ENSG00000114650	30634	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCAP_HUMAN	SCAP	HGNC	D6RA39_HUMAN,C9JQ35_HUMAN	.	UPI0000135624	insertion	SCAP,frameshift_variant,p.Ser179GlnfsTer13,ENST00000545718,;SCAP,frameshift_variant,p.Ser316GlnfsTer13,ENST00000441517,;SCAP,frameshift_variant,p.Ser571GlnfsTer13,ENST00000265565,;SCAP,downstream_gene_variant,,ENST00000468965,;SCAP,downstream_gene_variant,,ENST00000465628,;SCAP,3_prime_UTR_variant,,ENST00000320017,;SCAP,3_prime_UTR_variant,,ENST00000416208,;	2123-2124	161	194	SUCCESS
COL7A1	1294	.	GRCh37	3	48605066	48605066	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs756771873	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	68	163	0	ENST00000328333.8:c.7987del	p.Glu2663SerfsTer16	p.E2663Sfs*16	ENST00000328333	NM_000094.3	2663	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS2773.1	7987	VARSCANI*|PINDEL	.	CAGGCTCCCCCT	NONE	.	.	hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	108/118	.	.	.	.	.	.	.	.	CM096538,rs756771873	108/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1,0	.	.	.	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	deletion	COL7A1,frameshift_variant,p.Glu2663SerfsTer16,ENST00000328333,;COL7A1,frameshift_variant,p.Glu2631SerfsTer16,ENST00000454817,;UCN2,upstream_gene_variant,,ENST00000273610,;COL7A1,downstream_gene_variant,,ENST00000422991,;COL7A1,upstream_gene_variant,,ENST00000470076,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,downstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000466591,;COL7A1,downstream_gene_variant,,ENST00000462475,;COL7A1,upstream_gene_variant,,ENST00000474432,;COL7A1,downstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000465238,;	8095	163	238	SUCCESS
CELSR3	1951	.	GRCh37	3	48689914	48689914	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778083864	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	38	99	0	ENST00000164024.4:c.5707G>A	p.Gly1903Ser	p.G1903S	ENST00000164024	NM_001407.2	1903	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2775.1	5707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCGGGGG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50025	.	.	ENSP00000164024	.	11/35	.	.	.	.	.	.	.	.	rs778083864	11/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.33)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Gly1903Ser,ENST00000544264,;CELSR3,missense_variant,p.Gly1903Ser,ENST00000164024,;	5988	99	84	SUCCESS
QRICH1	54870	.	GRCh37	3	49070581	49070581	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	7	108	0	ENST00000357496.2:c.1867C>A	p.Leu623Met	p.L623M	ENST00000357496	NM_017730.2	623	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS2787.1	1867	MUTECT|MUSE	.	GGTCAGCAAGG	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25,Pfam_domain:PF12012	.	.	ENSP00000378830	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000395443	Transcript	.	.	ENSG00000198218	24713	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	QRIC1_HUMAN	QRICH1	HGNC	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN	.	UPI0000209C85	SNV	QRICH1,missense_variant,p.Leu623Met,ENST00000395443,;QRICH1,missense_variant,p.Leu623Met,ENST00000424300,;QRICH1,missense_variant,p.Leu623Met,ENST00000357496,;IMPDH2,upstream_gene_variant,,ENST00000326739,;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;RP13-131K19.6,downstream_gene_variant,,ENST00000607245,;QRICH1,non_coding_transcript_exon_variant,,ENST00000479449,;QRICH1,non_coding_transcript_exon_variant,,ENST00000477021,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498440,;QRICH1,non_coding_transcript_exon_variant,,ENST00000469910,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498392,;QRICH1,non_coding_transcript_exon_variant,,ENST00000489642,;IMPDH2,upstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000485500,;	2340	108	108	SUCCESS
RNF123	63891	.	GRCh37	3	49751388	49751388	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	42	109	0	ENST00000327697.6:c.2883G>A	p.Arg961=	p.R961=	ENST00000327697	NM_022064.3	961	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33758.1	2883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCCCTG	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	30/39	.	.	.	.	.	.	.	.	.	30/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,synonymous_variant,p.%3D,ENST00000327697,;RNF123,synonymous_variant,p.%3D,ENST00000433785,;RNF123,downstream_gene_variant,,ENST00000432042,;AMIGO3,downstream_gene_variant,,ENST00000320431,;GMPPB,downstream_gene_variant,,ENST00000480687,;AMIGO3,downstream_gene_variant,,ENST00000535833,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,3_prime_UTR_variant,,ENST00000444689,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000469978,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;	3027	109	102	SUCCESS
RBM5	10181	.	GRCh37	3	50145541	50145541	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs148691467	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	114	0	ENST00000347869.3:c.1080T>A	p.Tyr360Ter	p.Y360*	ENST00000347869	NM_005778.3	360	taT/taA	0	C:0.0002	.	.	.	.	A	Y/*	protein_coding	YES	CCDS2810.1	1080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTATCTGCA	NONE	byCluster	.	hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21	.	C:0	ENSP00000343054	.	13/25	.	.	.	.	.	.	.	.	rs148691467	13/25	PASS	ENST00000347869	Transcript	.	.	ENSG00000003756	9902	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM5_HUMAN	RBM5	HGNC	C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN	.	UPI000013337C	SNV	RBM5,stop_gained,p.Tyr360Ter,ENST00000347869,;RBM5,non_coding_transcript_exon_variant,,ENST00000441812,;RBM5,upstream_gene_variant,,ENST00000474470,;RBM5,3_prime_UTR_variant,,ENST00000395174,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000489437,;RBM5,non_coding_transcript_exon_variant,,ENST00000494360,;RBM5,non_coding_transcript_exon_variant,,ENST00000496179,;RBM5,non_coding_transcript_exon_variant,,ENST00000474818,;RBM5,downstream_gene_variant,,ENST00000471995,;RBM5,downstream_gene_variant,,ENST00000462025,;RBM5,upstream_gene_variant,,ENST00000475128,;	1255	114	103	SUCCESS
CISH	1154	.	GRCh37	3	50645848	50645848	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749611185	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	90	0	ENST00000348721.3:c.197A>G	p.Asp66Gly	p.D66G	ENST00000348721	NM_145071.2	66	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS46834.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATCCTCC	NONE	.	.	hmmpanther:PTHR10385:SF7,hmmpanther:PTHR10385,Gene3D:3.30.505.10	.	.	ENSP00000409346	.	3/4	.	.	.	.	.	.	.	.	rs749611185	3/4	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	SNV	CISH,missense_variant,p.Asp66Gly,ENST00000348721,;CISH,missense_variant,p.Asp83Gly,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,upstream_gene_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	476	90	78	SUCCESS
DNAH1	25981	.	GRCh37	3	52382985	52382985	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371359758	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	52	0	ENST00000420323.2:c.2188C>T	p.Arg730Trp	p.R730W	ENST00000420323	NM_015512.4	730	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS46842.1	2188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTACGGGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	T:0	ENSP00000401514	.	13/78	.	.	.	.	.	.	.	.	rs371359758,COSM1046867,COSM1046866	13/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.353)	.	.	0,1,1	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Arg730Trp,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	2449	52	36	SUCCESS
DNAH1	25981	.	GRCh37	3	52417508	52417508	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs77451372	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	98	0	ENST00000420323.2:c.8048G>A	p.Arg2683Gln	p.R2683Q	ENST00000420323	NM_015512.4	2683	cGg/cAg	0	A:0.0002	A:0.003	.	A:0.0014	.	A	R/Q	protein_coding	YES	CCDS46842.1	8048	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGGCCCT	NONE	byFrequency|byCluster|by1000G	.	Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	A:0	A:0	ENSP00000401514	A:0	51/78	.	.	.	.	.	.	.	.	rs77451372	51/78	PASS	ENST00000420323	Transcript	.	A:0.0010	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.273)	A:0	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Arg2683Gln,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,upstream_gene_variant,,ENST00000488988,;	8309	98	105	SUCCESS
DNAH1	25981	.	GRCh37	3	52428572	52428572	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	110	0	ENST00000420323.2:c.10718A>T	p.Asp3573Val	p.D3573V	ENST00000420323	NM_015512.4	3573	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS46842.1	10718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGACATCC	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	67/78	.	.	.	.	.	.	.	.	.	67/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Asp3573Val,ENST00000420323,;DNAH1,downstream_gene_variant,,ENST00000480649,;DNAH1,missense_variant,p.Asp473Val,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000487254,;	10979	110	108	SUCCESS
ITIH3	3699	.	GRCh37	3	52840398	52840398	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773229579	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	44	1	ENST00000449956.2:c.2032C>T	p.Arg678Cys	p.R678C	ENST00000449956	NM_002217.3	678	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS46845.1	2032	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCGCCTT	BUFFER|p.R678H|c.2033G>A|4	byFrequency	.	hmmpanther:PTHR10338:SF24,hmmpanther:PTHR10338	.	.	ENSP00000415769	.	18/22	.	.	.	.	.	.	.	.	rs773229579,COSM1538442	18/22	PASS	ENST00000449956	Transcript	.	.	ENSG00000162267	6168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.018)	.	deleterious(0)	0,1	ITIH3_HUMAN	ITIH3	HGNC	.	.	UPI00005CE290	SNV	ITIH3,missense_variant,p.Arg678Cys,ENST00000449956,;ITIH3,intron_variant,,ENST00000416872,;ITIH3,non_coding_transcript_exon_variant,,ENST00000493136,;ITIH3,non_coding_transcript_exon_variant,,ENST00000495622,;ITIH3,downstream_gene_variant,,ENST00000475931,;ITIH3,downstream_gene_variant,,ENST00000465314,;ITIH3,downstream_gene_variant,,ENST00000464804,;	2038	45	60	SUCCESS
CACNA2D3	55799	.	GRCh37	3	54354484	54354484	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	29	86	0	ENST00000288197.5:c.220del	p.Glu74ArgfsTer6	p.E74Rfs*6	ENST00000288197		74	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS54598.1	220	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTATGAGAAA	NONE	.	.	hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	.	.	ENSP00000419101	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	deletion	CACNA2D3,frameshift_variant,p.Glu74ArgfsTer6,ENST00000474759,;CACNA2D3,frameshift_variant,p.Glu74ArgfsTer6,ENST00000415676,;CACNA2D3,frameshift_variant,p.Glu74ArgfsTer6,ENST00000288197,;CACNA2D3,5_prime_UTR_variant,,ENST00000490478,;CACNA2D3,5_prime_UTR_variant,,ENST00000492460,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000478466,;CACNA2D3,5_prime_UTR_variant,,ENST00000471363,;CACNA2D3,5_prime_UTR_variant,,ENST00000477024,;CACNA2D3,5_prime_UTR_variant,,ENST00000468658,;	268	86	101	SUCCESS
LRTM1	57408	.	GRCh37	3	54958759	54958759	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372086680	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	128	0	ENST00000273286.5:c.491C>T	p.Ala164Val	p.A164V	ENST00000273286	NM_020678.2	164	gCg/gTg	0	T:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS2876.1	491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGCTCGA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24369:SF18,hmmpanther:PTHR24369,PROSITE_profiles:PS51450	.	T:0.0002	ENSP00000273286	.	2/3	.	.	.	.	.	.	.	.	rs372086680	2/3	PASS	ENST00000273286	Transcript	.	.	ENSG00000144771	25023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.64)	.	LRTM1_HUMAN	LRTM1	HGNC	.	.	UPI000006CEEC	SNV	LRTM1,missense_variant,p.Ala164Val,ENST00000273286,;LRTM1,missense_variant,p.Ala88Val,ENST00000493075,;CACNA2D3,intron_variant,,ENST00000474759,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,intron_variant,,ENST00000471363,;	654	128	94	SUCCESS
WNT5A	7474	.	GRCh37	3	55508545	55508545	+	synonymous_variant	Silent	SNP	C	C	T	rs1468518599	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	37	0	ENST00000264634.4:c.504G>A	p.Ala168=	p.A168=	ENST00000264634	NM_003392.4	168	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46850.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGCGCGGC	NONE	.	.	hmmpanther:PTHR12027:SF33,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000417310	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000474267	Transcript	.	.	ENSG00000114251	12784	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT5A_HUMAN	WNT5A	HGNC	.	.	UPI0000231C66	SNV	WNT5A,synonymous_variant,p.%3D,ENST00000264634,;WNT5A,synonymous_variant,p.%3D,ENST00000474267,;WNT5A,synonymous_variant,p.%3D,ENST00000497027,;WNT5A,synonymous_variant,p.%3D,ENST00000482079,;WNT5A,upstream_gene_variant,,ENST00000493406,;WNT5A,downstream_gene_variant,,ENST00000497817,;	1026	37	49	SUCCESS
SYNPR	132204	.	GRCh37	3	63429055	63429055	+	5_prime_UTR_variant	5'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	38	91	0	ENST00000295894.5:c.-63del		p.*21*	ENST00000295894	NM_144642.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46859.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTTATTTTTA	NONE	.	.	.	.	.	ENSP00000418994	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000478300	Transcript	.	.	ENSG00000163630	16507	4	.	MODIFIER	2/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNPR_HUMAN	SYNPR	HGNC	B7Z9J3_HUMAN	.	UPI00005796D8	deletion	SYNPR,5_prime_UTR_variant,,ENST00000465156,;SYNPR,5_prime_UTR_variant,,ENST00000479198,;SYNPR,5_prime_UTR_variant,,ENST00000460711,;SYNPR,5_prime_UTR_variant,,ENST00000295894,;SYNPR,intron_variant,,ENST00000478300,;SYNPR-AS1,intron_variant,,ENST00000488201,;SYNPR,non_coding_transcript_exon_variant,,ENST00000478744,;SYNPR,intron_variant,,ENST00000460142,;SYNPR,intron_variant,,ENST00000467934,;SYNPR,intron_variant,,ENST00000496889,;SYNPR,intron_variant,,ENST00000493532,;SYNPR,intron_variant,,ENST00000478456,;SYNPR,5_prime_UTR_variant,,ENST00000472899,;SYNPR,5_prime_UTR_variant,,ENST00000498449,;SYNPR,intron_variant,,ENST00000450542,;SYNPR,intron_variant,,ENST00000468110,;	.	91	143	SUCCESS
LRIG1	26018	.	GRCh37	3	66449417	66449417	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	88	0	ENST00000273261.3:c.1209G>A	p.Ser403=	p.S403=	ENST00000273261	NM_015541.2	403	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33783.1	1209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCGAGAA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,SMART_domains:SM00365,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS51450	.	.	ENSP00000273261	.	10/19	.	.	.	.	.	.	.	.	COSM2151232,COSM2151233	10/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,synonymous_variant,p.%3D,ENST00000383703,;LRIG1,synonymous_variant,p.%3D,ENST00000273261,;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;	1734	88	65	SUCCESS
CADM2	253559	.	GRCh37	3	85961535	85961536	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	375	131	386	0	ENST00000407528.2:c.519dup	p.Glu174ArgfsTer23	p.E174Rfs*23	ENST00000407528	NM_001167674.1	172	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS33792.1	521-522	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATTTAAAAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	insertion	CADM2,frameshift_variant,p.Glu174ArgfsTer23,ENST00000407528,;CADM2,frameshift_variant,p.Glu183ArgfsTer23,ENST00000383699,;CADM2,frameshift_variant,p.Glu176ArgfsTer23,ENST00000405615,;	521-522	386	506	SUCCESS
CADM2	253559	.	GRCh37	3	85961549	85961549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771188436	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	166	434	1	ENST00000407528.2:c.529G>A	p.Ala177Thr	p.A177T	ENST00000407528	NM_001167674.1	177	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33792.1	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGCAAAT	BUFFER|p.R181C|c.541C>T|4,BUFFER|p.R188C|c.562C>T|4	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	5/10	.	.	.	.	.	.	.	.	rs771188436	5/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.34)	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,missense_variant,p.Ala177Thr,ENST00000407528,;CADM2,missense_variant,p.Ala186Thr,ENST00000383699,;CADM2,missense_variant,p.Ala179Thr,ENST00000405615,;	535	435	433	SUCCESS
SSUH2	51066	.	GRCh37	3	8671370	8671370	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs532787180	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	80	0	ENST00000317371.4:c.502G>A	p.Gly168Ser	p.G168S	ENST00000317371		168	Ggc/Agc	0	.	T:0	.	T:0	.	T	G/S	protein_coding	YES	CCDS58815.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCGCTGC	NONE	by1000G	.	hmmpanther:PTHR15852:SF7,hmmpanther:PTHR15852	T:0	.	ENSP00000439378	T:0.001	7/12	.	.	.	.	.	.	.	.	rs532787180	7/12	PASS	ENST00000544814	Transcript	.	T:0.0002	ENSG00000125046	24809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	T:0	tolerated(0.33)	.	SSUH2_HUMAN	SSUH2	HGNC	C9JZA7_HUMAN	.	UPI000206527B	SNV	SSUH2,missense_variant,p.Gly168Ser,ENST00000317371,;SSUH2,missense_variant,p.Gly168Ser,ENST00000341795,;SSUH2,missense_variant,p.Gly168Ser,ENST00000415132,;SSUH2,missense_variant,p.Gly190Ser,ENST00000544814,;SSUH2,downstream_gene_variant,,ENST00000427408,;SSUH2,non_coding_transcript_exon_variant,,ENST00000492435,;SSUH2,downstream_gene_variant,,ENST00000466215,;SSUH2,downstream_gene_variant,,ENST00000484585,;SSUH2,downstream_gene_variant,,ENST00000483845,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;	608	80	52	SUCCESS
EPHA3	2042	.	GRCh37	3	89462400	89462400	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1162005172	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	54	153	0	ENST00000336596.2:c.1872T>A	p.Asp624Glu	p.D624E	ENST00000336596	NM_005233.5	624	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS2922.1	1872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATAAAGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000337451	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(1)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Asp624Glu,ENST00000494014,;EPHA3,missense_variant,p.Asp624Glu,ENST00000336596,;	2097	153	145	SUCCESS
EPHA3	2042	.	GRCh37	3	89499362	89499363	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	268	109	221	0	ENST00000336596.2:c.2538dup	p.Met847HisfsTer26	p.M847Hfs*26	ENST00000336596	NM_005233.5	844	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS2922.1	2532-2533	VARSCANI*|PINDEL	.	CTGCCACCCCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000337451	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	insertion	EPHA3,frameshift_variant,p.Met847HisfsTer26,ENST00000494014,;EPHA3,frameshift_variant,p.Met847HisfsTer26,ENST00000336596,;	2757-2758	221	377	SUCCESS
EPHA3	2042	.	GRCh37	3	89528609	89528609	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	253	8	253	0	ENST00000336596.2:c.2909A>C	p.Lys970Thr	p.K970T	ENST00000336596	NM_005233.5	970	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS2922.1	2909	MUTECT|MUSE	.	CATTAAAGCTC	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF07647,Gene3D:1.10.150.50,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000337451	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	deleterious(0)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Lys970Thr,ENST00000336596,;EPHA3,3_prime_UTR_variant,,ENST00000494014,;	3134	253	261	SUCCESS
FGFRL1	53834	.	GRCh37	4	1019080	1019080	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	12	238	1	ENST00000264748.6:c.1460A>T	p.His487Leu	p.H487L	ENST00000264748	NM_021923.3	487	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS3344.1	1460	MUTECT|MUSE	.	CTCTCACACAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19890:SF5,hmmpanther:PTHR19890	.	.	ENSP00000381498	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000398484	Transcript	.	.	ENSG00000127418	3693	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.116)	.	deleterious(0)	.	FGRL1_HUMAN	FGFRL1	HGNC	D6REM7_HUMAN,D6RBN8_HUMAN,A0PJ49_HUMAN	.	UPI000003ED0B	SNV	FGFRL1,missense_variant,p.His487Leu,ENST00000264748,;FGFRL1,missense_variant,p.His487Leu,ENST00000398484,;FGFRL1,missense_variant,p.His487Leu,ENST00000504138,;FGFRL1,missense_variant,p.His487Leu,ENST00000510644,;FGFRL1,downstream_gene_variant,,ENST00000507339,;FGFRL1,downstream_gene_variant,,ENST00000512174,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	2040	239	195	SUCCESS
NFKB1	4790	.	GRCh37	4	103498147	103498147	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	6	105	0	ENST00000394820.4:c.519T>G	p.Pro173=	p.P173=	ENST00000394820		173	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3657.1	522	MUTECT|MUSE	.	CACCCTGACCT	NONE	.	.	PROSITE_profiles:PS50254,hmmpanther:PTHR24169:SF9,hmmpanther:PTHR24169,Gene3D:2.60.40.340,Pfam_domain:PF00554,Superfamily_domains:SSF49417	.	.	ENSP00000226574	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000226574	Transcript	.	.	ENSG00000109320	7794	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NFKB1_HUMAN	NFKB1	HGNC	D6RF93_HUMAN,D6RC45_HUMAN	.	UPI0000192724	SNV	NFKB1,synonymous_variant,p.%3D,ENST00000505458,;NFKB1,synonymous_variant,p.%3D,ENST00000394820,;NFKB1,synonymous_variant,p.%3D,ENST00000507079,;NFKB1,synonymous_variant,p.%3D,ENST00000226574,;NFKB1,upstream_gene_variant,,ENST00000600343,;NFKB1,upstream_gene_variant,,ENST00000508584,;NFKB1,downstream_gene_variant,,ENST00000509165,;NFKB1,non_coding_transcript_exon_variant,,ENST00000513803,;NFKB1,non_coding_transcript_exon_variant,,ENST00000510638,;	989	105	102	SUCCESS
NFKB1	4790	.	GRCh37	4	103528382	103528382	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	57	177	0	ENST00000394820.4:c.2027A>G	p.Asp676Gly	p.D676G	ENST00000394820		676	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3657.1	2030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGACGTCA	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24169:SF9,hmmpanther:PTHR24169,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	.	.	ENSP00000226574	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000226574	Transcript	.	.	ENSG00000109320	7794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.393)	.	deleterious(0.02)	.	NFKB1_HUMAN	NFKB1	HGNC	D6RF93_HUMAN,D6RC45_HUMAN	.	UPI0000192724	SNV	NFKB1,missense_variant,p.Asp496Gly,ENST00000600343,;NFKB1,missense_variant,p.Asp676Gly,ENST00000505458,;NFKB1,missense_variant,p.Asp676Gly,ENST00000394820,;NFKB1,missense_variant,p.Asp677Gly,ENST00000226574,;	2497	177	162	SUCCESS
GSTCD	79807	.	GRCh37	4	106744196	106744196	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	66	202	0	ENST00000360505.5:c.1326T>C	p.Gly442=	p.G442=	ENST00000360505	NM_001031720.3	442	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS43257.1	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTGACAG	NONE	.	.	hmmpanther:PTHR13369:SF0,hmmpanther:PTHR13369,Gene3D:3.40.50.150,Pfam_domain:PF13679,Superfamily_domains:SSF53335	.	.	ENSP00000422354	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000515279	Transcript	.	.	ENSG00000138780	25806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTCD_HUMAN	GSTCD	HGNC	D6RCC9_HUMAN,D6RCC4_HUMAN,D6R949_HUMAN	.	UPI0000141636	SNV	GSTCD,synonymous_variant,p.%3D,ENST00000360505,;GSTCD,synonymous_variant,p.%3D,ENST00000515279,;GSTCD,synonymous_variant,p.%3D,ENST00000394728,;GSTCD,synonymous_variant,p.%3D,ENST00000394730,;INTS12,intron_variant,,ENST00000510876,;RP11-45L9.1,intron_variant,,ENST00000506527,;RP11-45L9.1,intron_variant,,ENST00000504955,;RP11-45L9.1,intron_variant,,ENST00000509003,;GSTCD,non_coding_transcript_exon_variant,,ENST00000515255,;GSTCD,non_coding_transcript_exon_variant,,ENST00000484843,;	1546	203	181	SUCCESS
TBCK	93627	.	GRCh37	4	107173107	107173107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	99	0	ENST00000273980.5:c.513T>A	p.Asp171Glu	p.D171E	ENST00000273980		171	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS54788.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGATCAGT	NONE	.	.	PROSITE_profiles:PS50011,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000273980	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000273980	Transcript	.	.	ENSG00000145348	28261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.51)	.	TBCK_HUMAN	TBCK	HGNC	D6RDY5_HUMAN,D6RDG2_HUMAN,D6RC61_HUMAN,D6R950_HUMAN	.	UPI000013EF70	SNV	TBCK,missense_variant,p.Asp108Glu,ENST00000361687,;TBCK,missense_variant,p.Asp171Glu,ENST00000273980,;TBCK,missense_variant,p.Asp171Glu,ENST00000394708,;TBCK,missense_variant,p.Asp171Glu,ENST00000432496,;TBCK,intron_variant,,ENST00000394706,;TBCK,downstream_gene_variant,,ENST00000509532,;TBCK,non_coding_transcript_exon_variant,,ENST00000506280,;TBCK,missense_variant,p.Asp20Glu,ENST00000503832,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,upstream_gene_variant,,ENST00000510927,;TBCK,upstream_gene_variant,,ENST00000508666,;TBCK,upstream_gene_variant,,ENST00000505574,;	961	99	104	SUCCESS
LRIT3	345193	.	GRCh37	4	110791477	110791477	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	70	130	0	ENST00000594814.1:c.1572G>A	p.Gly524=	p.G524=	ENST00000594814	NM_198506.4	524	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3688.3	1572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGAAGGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24367:SF236,hmmpanther:PTHR24367,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000469759	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000594814	Transcript	1	.	ENSG00000183423	24783	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIT3_HUMAN	LRIT3	HGNC	.	.	UPI0000F07E94	SNV	LRIT3,synonymous_variant,p.%3D,ENST00000379920,;LRIT3,synonymous_variant,p.%3D,ENST00000327908,;LRIT3,synonymous_variant,p.%3D,ENST00000409621,;LRIT3,synonymous_variant,p.%3D,ENST00000594814,;	1572	130	169	SUCCESS
FAT4	79633	.	GRCh37	4	126241913	126241913	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	94	265	0	ENST00000394329.3:c.4347A>C	p.Ala1449=	p.A1449=	ENST00000394329	NM_024582.4	1449	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3732.3	4347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCAGACAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,synonymous_variant,p.%3D,ENST00000394329,;	4360	265	234	SUCCESS
FAT4	79633	.	GRCh37	4	126412250	126412250	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	49	99	0	ENST00000394329.3:c.14273C>T	p.Ala4758Val	p.A4758V	ENST00000394329	NM_024582.4	4758	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3732.3	14273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCCATGG	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41	.	.	ENSP00000377862	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ala4758Val,ENST00000394329,;FAT4,missense_variant,p.Ala2999Val,ENST00000335110,;	14286	99	96	SUCCESS
UVSSA	57654	.	GRCh37	4	1343357	1343357	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	81	0	ENST00000389851.4:c.144A>G	p.Ala48=	p.A48=	ENST00000389851	NM_020894.2	48	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS33938.1	144	RADIA|MUTECT|MUSE	.	ATAGCACAGCT	BUFFER|p.A48T|c.142G>A|3	.	.	.	.	.	ENSP00000374501	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000389851	Transcript	1	.	ENSG00000163945	29304	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UVSSA_HUMAN	UVSSA	HGNC	.	.	UPI00001C1E0C	SNV	UVSSA,synonymous_variant,p.%3D,ENST00000507531,;UVSSA,synonymous_variant,p.%3D,ENST00000389851,;UVSSA,synonymous_variant,p.%3D,ENST00000511216,;UVSSA,upstream_gene_variant,,ENST00000505716,;	591	81	72	SUCCESS
MGARP	84709	.	GRCh37	4	140201263	140201263	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1382515685	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	80	196	1	ENST00000398955.1:c.50C>T	p.Ala17Val	p.A17V	ENST00000398955	NM_032623.3	17	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43269.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22910,hmmpanther:PTHR22910:SF6,Pfam_domain:PF14962	.	.	ENSP00000381928	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398955	Transcript	.	.	ENSG00000137463	29969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.431)	.	tolerated(0.08)	.	HUMMR_HUMAN	MGARP	HGNC	.	.	UPI000007197E	SNV	MGARP,missense_variant,p.Ala17Val,ENST00000398955,;NDUFC1,intron_variant,,ENST00000503997,;	230	197	198	SUCCESS
USP38	84640	.	GRCh37	4	144135967	144135968	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	270	103	303	0	ENST00000307017.4:c.2844dup	p.Gln949ThrfsTer3	p.Q949Tfs*3	ENST00000307017	NM_032557.5	946	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS3758.1	2838-2839	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTATAAAAA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF386,hmmpanther:PTHR24006,Superfamily_domains:SSF54001	.	.	ENSP00000303434	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000307017	Transcript	.	.	ENSG00000170185	20067	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP38_HUMAN	USP38	HGNC	B3KSB9_HUMAN	.	UPI0000047AF9	insertion	USP38,frameshift_variant,p.Gln949ThrfsTer3,ENST00000510377,;USP38,frameshift_variant,p.Gln949ThrfsTer3,ENST00000307017,;USP38,3_prime_UTR_variant,,ENST00000511739,;	3344-3345	303	373	SUCCESS
ABCE1	6059	.	GRCh37	4	146033459	146033459	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752956027	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	74	204	0	ENST00000296577.4:c.779G>A	p.Arg260Gln	p.R260Q	ENST00000296577	NM_002940.2	260	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS34071.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACGATCTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,hmmpanther:PTHR19248,PROSITE_profiles:PS50893	.	.	ENSP00000296577	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000296577	Transcript	.	.	ENSG00000164163	69	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.05)	.	ABCE1_HUMAN	ABCE1	HGNC	D6RGF4_HUMAN,D6R9I9_HUMAN	.	UPI0000001226	SNV	ABCE1,missense_variant,p.Arg260Gln,ENST00000296577,;ABCE1,downstream_gene_variant,,ENST00000502586,;ABCE1,intron_variant,,ENST00000506506,;OTUD4,intron_variant,,ENST00000455611,;ABCE1,intron_variant,,ENST00000502803,;ABCE1,missense_variant,p.Arg260Gln,ENST00000507193,;ABCE1,3_prime_UTR_variant,,ENST00000504292,;	1294	204	190	SUCCESS
PET112	0	.	GRCh37	4	152622627	152622627	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766660548	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	97	0	ENST00000263985.6:c.1051G>A	p.Ala351Thr	p.A351T	ENST00000263985	NM_004564.2	351	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3776.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCGTCGT	NONE	byFrequency	.	HAMAP:MF_00121,hmmpanther:PTHR11659,hmmpanther:PTHR11659:SF0,TIGRFAM_domain:TIGR00133,Superfamily_domains:SSF55931	.	.	ENSP00000263985	.	9/13	.	.	.	.	.	.	.	.	rs766660548,COSM1052076	9/13	PASS	ENST00000263985	Transcript	.	.	ENSG00000059691	8849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.63)	0,1	GATB_HUMAN	PET112	HGNC	.	.	UPI000012B14C	SNV	PET112,missense_variant,p.Ala351Thr,ENST00000263985,;PET112,missense_variant,p.Ala310Thr,ENST00000515812,;PET112,downstream_gene_variant,,ENST00000512306,;PET112,missense_variant,p.Ala16Thr,ENST00000510720,;PET112,3_prime_UTR_variant,,ENST00000503160,;PET112,3_prime_UTR_variant,,ENST00000515884,;PET112,non_coding_transcript_exon_variant,,ENST00000505211,;PET112,intron_variant,,ENST00000515564,;PET112,downstream_gene_variant,,ENST00000511538,;PET112,downstream_gene_variant,,ENST00000515490,;	1092	97	81	SUCCESS
FBXW7	55294	.	GRCh37	4	153244121	153244121	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	81	180	0	ENST00000281708.4:c.2036A>G	p.Asn679Ser	p.N679S	ENST00000281708	NM_033632.3	679	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS3777.1	2036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGTTTGAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF116	.	.	ENSP00000281708	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.23)	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,missense_variant,p.Asn679Ser,ENST00000603548,;FBXW7,missense_variant,p.Asn599Ser,ENST00000263981,;FBXW7,missense_variant,p.Asn561Ser,ENST00000296555,;FBXW7,missense_variant,p.Asn503Ser,ENST00000393956,;FBXW7,missense_variant,p.Asn679Ser,ENST00000281708,;FBXW7,missense_variant,p.Asn679Ser,ENST00000603841,;RP11-461L13.3,upstream_gene_variant,,ENST00000603766,;RP11-461L13.5,upstream_gene_variant,,ENST00000605407,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604316,;FBXW7,non_coding_transcript_exon_variant,,ENST00000603821,;FBXW7,downstream_gene_variant,,ENST00000604069,;	3266	180	180	SUCCESS
DCHS2	54798	.	GRCh37	4	155158059	155158059	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	22	95	0	ENST00000357232.4:c.6380del	p.Asn2127ThrfsTer64	p.N2127Tfs*64	ENST00000357232	NM_017639.3	2127	aAc/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS3785.1	6380	INDELOCATOR*|VARSCANI*|PINDEL	.	TATGTGTTTTCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	COSM1671370	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	deletion	DCHS2,frameshift_variant,p.Asn2127ThrfsTer64,ENST00000357232,;	6380	95	93	SUCCESS
NPY2R	4887	.	GRCh37	4	156135360	156135360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757654478	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	6	71	0	ENST00000329476.3:c.269C>T	p.Ala90Val	p.A90V	ENST00000329476	NM_000910.2	90	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3791.1	269	MUTECT|MUSE|VARSCANS	.	CATTGCCAATC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	rs757654478	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.26)	.	tolerated(0.26)	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,missense_variant,p.Ala90Val,ENST00000506608,;NPY2R,missense_variant,p.Ala90Val,ENST00000329476,;	758	71	75	SUCCESS
ETFDH	2110	.	GRCh37	4	159620153	159620153	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	214	137	378	0	ENST00000511912.1:c.987T>A	p.Tyr329Ter	p.Y329*	ENST00000511912	NM_004453.2	329	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS3800.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTATCAGAA	NONE	.	.	Superfamily_domains:SSF54373,Gene3D:3.50.50.60,hmmpanther:PTHR10617,hmmpanther:PTHR10617:SF98	.	.	ENSP00000426638	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000511912	Transcript	1	.	ENSG00000171503	3483	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETFD_HUMAN	ETFDH	HGNC	D6RAD5_HUMAN,B4DEQ0_HUMAN	.	UPI000013EC48	SNV	ETFDH,stop_gained,p.Tyr282Ter,ENST00000307738,;ETFDH,stop_gained,p.Tyr329Ter,ENST00000511912,;ETFDH,stop_gained,p.Tyr164Ter,ENST00000507475,;U3,upstream_gene_variant,,ENST00000607547,;ETFDH,intron_variant,,ENST00000506422,;	1319	378	351	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160264434	160264434	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	70	192	0	ENST00000264431.4:c.2649A>T		p.X883_splice	ENST00000264431	NM_014247.2	883	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43277.1	2649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAAATGA	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000264431	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	SNV	RAPGEF2,synonymous_variant,p.%3D,ENST00000264431,;RAPGEF2,upstream_gene_variant,,ENST00000502485,;RAPGEF2,upstream_gene_variant,,ENST00000510253,;	3068	192	182	SUCCESS
NPY1R	4886	.	GRCh37	4	164246566	164246566	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	49	130	0	ENST00000296533.2:c.1044A>T	p.Glu348Asp	p.E348D	ENST00000296533	NM_000909.5	348	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS34089.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTTTCATA	NONE	.	.	Prints_domain:PR01013,Superfamily_domains:SSF81321	.	.	ENSP00000354652	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296533	Transcript	.	.	ENSG00000164128	7956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.07)	.	NPY1R_HUMAN	NPY1R	HGNC	D6RI97_HUMAN,D6RHH6_HUMAN,D6REY0_HUMAN,D6RC44_HUMAN,D6R9D0_HUMAN,B4DKL9_HUMAN	.	UPI000002D509	SNV	NPY1R,missense_variant,p.Glu105Asp,ENST00000509586,;NPY1R,missense_variant,p.Glu348Asp,ENST00000296533,;NPY1R,downstream_gene_variant,,ENST00000511901,;NPY1R,downstream_gene_variant,,ENST00000515701,;NPY1R,downstream_gene_variant,,ENST00000512819,;NPY1R,downstream_gene_variant,,ENST00000504790,;NPY1R,downstream_gene_variant,,ENST00000504391,;	1576	130	131	SUCCESS
NPY5R	4889	.	GRCh37	4	164272694	164272694	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	127	0	ENST00000338566.3:c.1269T>C	p.Ile423=	p.I423=	ENST00000338566	NM_006174.2	423	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS3804.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATTCTATA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01012	.	.	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,synonymous_variant,p.%3D,ENST00000506953,;NPY5R,synonymous_variant,p.%3D,ENST00000515560,;NPY5R,synonymous_variant,p.%3D,ENST00000338566,;	2791	127	114	SUCCESS
TLL1	7092	.	GRCh37	4	166987010	166987010	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	128	0	ENST00000061240.2:c.2183T>C	p.Phe728Ser	p.F728S	ENST00000061240	NM_012464.4	728	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS3811.1	2183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTCTCAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	deleterious(0.01)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Phe728Ser,ENST00000061240,;TLL1,missense_variant,p.Phe751Ser,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2830	128	124	SUCCESS
CLCN3	1182	.	GRCh37	4	170625277	170625277	+	synonymous_variant	Silent	SNP	C	C	T	rs757508791	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	45	103	0	ENST00000513761.1:c.1692C>T	p.Val564=	p.V564=	ENST00000513761	NM_001829.3	564	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS34100.1	1692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCGGGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Pfam_domain:PF00654,Gene3D:1otsB00,Superfamily_domains:SSF81340	.	.	ENSP00000261514	.	10/14	.	.	.	.	.	.	.	.	rs757508791	10/14	PASS	ENST00000347613	Transcript	.	.	ENSG00000109572	2021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCN3_HUMAN	CLCN3	HGNC	D6RIX3_HUMAN,D6RDZ6_HUMAN	.	UPI000015F952	SNV	CLCN3,synonymous_variant,p.%3D,ENST00000504131,;CLCN3,synonymous_variant,p.%3D,ENST00000515420,;CLCN3,synonymous_variant,p.%3D,ENST00000347613,;CLCN3,synonymous_variant,p.%3D,ENST00000513761,;CLCN3,synonymous_variant,p.%3D,ENST00000507875,;CLCN3,synonymous_variant,p.%3D,ENST00000360642,;	2246	103	123	SUCCESS
HAND2	9464	.	GRCh37	4	174450400	174450400	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	58	0	ENST00000359562.4:c.41A>G	p.His14Arg	p.H14R	ENST00000359562	NM_021973.2	14	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3819.1	41	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGTGCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF41	.	.	ENSP00000352565	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000359562	Transcript	.	.	ENSG00000164107	4808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	tolerated(0.21)	.	HAND2_HUMAN	HAND2	HGNC	Q3T1D5_HUMAN,B3KV85_HUMAN	.	UPI0000003FE8	SNV	HAND2,missense_variant,p.His14Arg,ENST00000359562,;HAND2-AS1,intron_variant,,ENST00000512099,;HAND2-AS1,intron_variant,,ENST00000515310,;HAND2-AS1,upstream_gene_variant,,ENST00000502941,;HAND2-AS1,upstream_gene_variant,,ENST00000505621,;HAND2-AS1,upstream_gene_variant,,ENST00000504740,;HAND2-AS1,upstream_gene_variant,,ENST00000512943,;HAND2-AS1,upstream_gene_variant,,ENST00000507322,;HAND2-AS1,upstream_gene_variant,,ENST00000510221,;HAND2-AS1,upstream_gene_variant,,ENST00000515376,;HAND2-AS1,upstream_gene_variant,,ENST00000504429,;HAND2-AS1,upstream_gene_variant,,ENST00000505817,;HAND2-AS1,upstream_gene_variant,,ENST00000507062,;HAND2-AS1,upstream_gene_variant,,ENST00000503309,;HAND2-AS1,upstream_gene_variant,,ENST00000514673,;HAND2-AS1,upstream_gene_variant,,ENST00000503198,;HAND2-AS1,upstream_gene_variant,,ENST00000512246,;HAND2-AS1,upstream_gene_variant,,ENST00000511728,;HAND2-AS1,upstream_gene_variant,,ENST00000503474,;HAND2-AS1,upstream_gene_variant,,ENST00000514431,;HAND2-AS1,upstream_gene_variant,,ENST00000509866,;HAND2-AS1,upstream_gene_variant,,ENST00000510268,;HAND2-AS1,upstream_gene_variant,,ENST00000508887,;HAND2-AS1,upstream_gene_variant,,ENST00000502896,;HAND2-AS1,upstream_gene_variant,,ENST00000505032,;HAND2-AS1,upstream_gene_variant,,ENST00000510339,;HAND2-AS1,upstream_gene_variant,,ENST00000515345,;HAND2-AS1,upstream_gene_variant,,ENST00000509640,;HAND2-AS1,upstream_gene_variant,,ENST00000502334,;HAND2-AS1,upstream_gene_variant,,ENST00000508534,;HAND2-AS1,upstream_gene_variant,,ENST00000515350,;HAND2-AS1,upstream_gene_variant,,ENST00000512929,;HAND2-AS1,upstream_gene_variant,,ENST00000515741,;HAND2-AS1,upstream_gene_variant,,ENST00000507571,;HAND2-AS1,upstream_gene_variant,,ENST00000511196,;HAND2-AS1,upstream_gene_variant,,ENST00000507636,;HAND2-AS1,upstream_gene_variant,,ENST00000512209,;HAND2,non_coding_transcript_exon_variant,,ENST00000505300,;HAND2,upstream_gene_variant,,ENST00000503024,;	981	58	48	SUCCESS
GLRA3	8001	.	GRCh37	4	175649683	175649683	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	5	90	0	ENST00000274093.3:c.434C>T	p.Thr145Ile	p.T145I	ENST00000274093	NM_006529.2	145	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3822.1	434	MUTECT|MUSE	.	CTGTAGTGACT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF455,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000274093	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000274093	Transcript	.	.	ENSG00000145451	4328	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	GLRA3_HUMAN	GLRA3	HGNC	Q9UPF3_HUMAN,Q4W595_HUMAN	.	UPI0000001C50	SNV	GLRA3,missense_variant,p.Thr145Ile,ENST00000274093,;GLRA3,missense_variant,p.Thr145Ile,ENST00000340217,;GLRA3,non_coding_transcript_exon_variant,,ENST00000436738,;	937	90	92	SUCCESS
LAP3	51056	.	GRCh37	4	17590466	17590466	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	130	324	0	ENST00000226299.4:c.729G>T	p.Gln243His	p.Q243H	ENST00000226299	NM_015907.2	243	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS3422.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAGGCAAT	NONE	.	.	HAMAP:MF_00181,hmmpanther:PTHR11963,hmmpanther:PTHR11963:SF13,Gene3D:3.40.630.10,Pfam_domain:PF00883,Superfamily_domains:SSF53187	.	.	ENSP00000226299	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000226299	Transcript	.	.	ENSG00000002549	18449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	deleterious(0.02)	.	AMPL_HUMAN	LAP3	HGNC	.	.	UPI000014F97D	SNV	LAP3,missense_variant,p.Gln243His,ENST00000226299,;LAP3,missense_variant,p.Gln212His,ENST00000606142,;LAP3,missense_variant,p.Gln77His,ENST00000513105,;AC006160.5,intron_variant,,ENST00000511010,;LAP3,non_coding_transcript_exon_variant,,ENST00000504614,;LAP3,non_coding_transcript_exon_variant,,ENST00000503467,;LAP3,downstream_gene_variant,,ENST00000507960,;LAP3,downstream_gene_variant,,ENST00000508014,;LAP3,downstream_gene_variant,,ENST00000509583,;	1003	324	318	SUCCESS
FAM184B	27146	.	GRCh37	4	17649411	17649411	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1164900051	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	23	0	ENST00000265018.3:c.2195C>T	p.Ser732Leu	p.S732L	ENST00000265018	NM_015688.1	732	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS47033.1	2195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGACTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870	.	.	ENSP00000265018	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000265018	Transcript	.	.	ENSG00000047662	29235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.748)	.	deleterious(0)	.	F184B_HUMAN	FAM184B	HGNC	.	.	UPI000020BD7C	SNV	FAM184B,missense_variant,p.Ser732Leu,ENST00000265018,;	2408	23	21	SUCCESS
NEIL3	55247	.	GRCh37	4	178283576	178283576	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	105	235	0	ENST00000264596.3:c.1769T>C	p.Phe590Ser	p.F590S	ENST00000264596	NM_018248.2	590	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS3828.1	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTCCAGT	NONE	.	.	hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10,Pfam_domain:PF06839	.	.	ENSP00000264596	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000264596	Transcript	.	.	ENSG00000109674	24573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NEIL3_HUMAN	NEIL3	HGNC	.	.	UPI000013D53D	SNV	NEIL3,missense_variant,p.Phe590Ser,ENST00000264596,;	1887	235	241	SUCCESS
DCTD	1635	.	GRCh37	4	183815749	183815749	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762837387	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	94	0	ENST00000438320.2:c.254C>T	p.Ala85Val	p.A85V	ENST00000438320	NM_001921.2	85	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34108.1	287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGCATGG	NONE	byFrequency	.	hmmpanther:PTHR11086,PROSITE_patterns:PS00903,Gene3D:3.40.140.10,Pfam_domain:PF00383,PIRSF_domain:PIRSF006019,Superfamily_domains:SSF53927	.	.	ENSP00000349576	.	4/6	.	.	.	.	.	.	.	.	rs762837387	4/6	PASS	ENST00000357067	Transcript	.	.	ENSG00000129187	2710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DCTD_HUMAN	DCTD	HGNC	D6RJA9_HUMAN,D6RC36_HUMAN,D6RBN2_HUMAN,D6RBJ9_HUMAN,D6RAR9_HUMAN,D6RAD7_HUMAN,D6R9S0_HUMAN	.	UPI00004EC28E	SNV	DCTD,missense_variant,p.Ala85Val,ENST00000503182,;DCTD,missense_variant,p.Ala85Val,ENST00000438320,;DCTD,missense_variant,p.Ala85Val,ENST00000514754,;DCTD,missense_variant,p.Ala96Val,ENST00000357067,;DCTD,missense_variant,p.Ala85Val,ENST00000510370,;DCTD,missense_variant,p.Ala85Val,ENST00000510307,;DCTD,missense_variant,p.Ala85Val,ENST00000512766,;DCTD,missense_variant,p.Arg40Trp,ENST00000507631,;DCTD,missense_variant,p.Arg40Trp,ENST00000500813,;DCTD,3_prime_UTR_variant,,ENST00000507543,;	353	94	90	SUCCESS
GPR125	0	.	GRCh37	4	22389385	22389385	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	102	221	0	ENST00000334304.5:c.3909T>C	p.Gly1303=	p.G1303=	ENST00000334304	NM_145290.3	1303	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS33964.1	3909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTACCGAG	NONE	.	.	.	.	.	ENSP00000334952	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000334304	Transcript	.	.	ENSG00000152990	13839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP125_HUMAN	GPR125	HGNC	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN	.	UPI00001D7735	SNV	GPR125,synonymous_variant,p.%3D,ENST00000334304,;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;GPR125,downstream_gene_variant,,ENST00000504617,;GPR125,non_coding_transcript_exon_variant,,ENST00000499527,;GPR125,intron_variant,,ENST00000511051,;	4179	221	246	SUCCESS
PPARGC1A	10891	.	GRCh37	4	23833257	23833257	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	120	0	ENST00000264867.2:c.352A>G	p.Thr118Ala	p.T118A	ENST00000264867	NM_013261.3	118	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3429.1	352	MUTECT|MUSE	.	AGTGGTCACGT	NONE	.	.	hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528	.	.	ENSP00000264867	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000264867	Transcript	1	.	ENSG00000109819	9237	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.194)	.	tolerated(1)	.	PRGC1_HUMAN	PPARGC1A	HGNC	G8DM16_HUMAN	.	UPI000004D072	SNV	PPARGC1A,missense_variant,p.Thr118Ala,ENST00000264867,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509642,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000512169,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000508380,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,downstream_gene_variant,,ENST00000507342,;PPARGC1A,missense_variant,p.Thr118Ala,ENST00000513205,;PPARGC1A,missense_variant,p.Thr118Ala,ENST00000506055,;PPARGC1A,upstream_gene_variant,,ENST00000514479,;	472	120	99	SUCCESS
LGI2	55203	.	GRCh37	4	25005399	25005399	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774450493	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	89	153	0	ENST00000382114.4:c.1312C>T	p.Arg438Cys	p.R438C	ENST00000382114	NM_018176.3	438	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3431.1	1312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGGGTAA	NONE	byFrequency	.	Superfamily_domains:0049172,Pfam_domain:PF03736,hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367,PROSITE_profiles:PS50912	.	.	ENSP00000371548	.	8/8	.	.	.	.	.	.	.	.	rs774450493	8/8	PASS	ENST00000382114	Transcript	.	.	ENSG00000153012	18710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	tolerated(0.09)	.	LGI2_HUMAN	LGI2	HGNC	.	.	UPI0000047256	SNV	LGI2,missense_variant,p.Arg438Cys,ENST00000382114,;LGI2,intron_variant,,ENST00000512108,;	1498	153	192	SUCCESS
ANAPC4	29945	.	GRCh37	4	25398360	25398360	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	23	137	0	ENST00000315368.3:c.1136T>G	p.Leu379Arg	p.L379R	ENST00000315368	NM_013367.2	379	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS3434.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTTGGAC	NONE	.	.	hmmpanther:PTHR13260,Pfam_domain:PF12896,PIRSF_domain:PIRSF037303	.	.	ENSP00000318775	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000315368	Transcript	.	.	ENSG00000053900	19990	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	APC4_HUMAN	ANAPC4	HGNC	D6RAP6_HUMAN	.	UPI000013D583	SNV	ANAPC4,missense_variant,p.Leu379Arg,ENST00000510092,;ANAPC4,missense_variant,p.Leu379Arg,ENST00000315368,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000503805,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000505842,;ANAPC4,downstream_gene_variant,,ENST00000507925,;	1278	137	140	SUCCESS
HTT	3064	.	GRCh37	4	3241599	3241599	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	73	0	ENST00000355072.5:c.9242G>C	p.Gly3081Ala	p.G3081A	ENST00000355072	NM_002111.6	3081	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS43206.1	9242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGCAAGC	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	67/67	.	.	.	.	.	.	.	.	.	67/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Gly3081Ala,ENST00000355072,;MSANTD1,upstream_gene_variant,,ENST00000507492,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;	9387	73	72	SUCCESS
KIAA1239	0	.	GRCh37	4	37446811	37446811	+	synonymous_variant	Silent	SNP	C	C	T	rs1021759729	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	55	103	0	ENST00000309447.5:c.3201C>T	p.Ser1067=	p.S1067=	ENST00000309447	NM_001144990.1	1067	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47040.1	3201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCGCCAA	NONE	.	.	hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,synonymous_variant,p.%3D,ENST00000309447,;	4049	103	137	SUCCESS
RPL9	6133	.	GRCh37	4	39458043	39458043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	343	230	647	0	ENST00000295955.9:c.374G>T	p.Arg125Met	p.R125M	ENST00000295955	NM_000661.4	125	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS3452.1	374	RADIA|MUTECT|MUSE	.	GAACCCTGCGG	NONE	.	.	hmmpanther:PTHR11655,Gene3D:3.90.930.12,Pfam_domain:PF00347,PIRSF_domain:PIRSF002162,Superfamily_domains:SSF56053	.	.	ENSP00000400467	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000449470	Transcript	.	.	ENSG00000163682	10369	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.382)	.	deleterious(0.01)	.	RL9_HUMAN	RPL9	HGNC	Q53Z07_HUMAN,E7ESE0_HUMAN	.	UPI00000015FD	SNV	RPL9,missense_variant,p.Arg125Met,ENST00000504470,;RPL9,missense_variant,p.Arg125Met,ENST00000503040,;RPL9,missense_variant,p.Arg125Met,ENST00000295955,;RPL9,missense_variant,p.Arg122Met,ENST00000508595,;RPL9,missense_variant,p.Arg125Met,ENST00000449470,;RPL9,intron_variant,,ENST00000506581,;LIAS,upstream_gene_variant,,ENST00000381846,;LIAS,upstream_gene_variant,,ENST00000261434,;LIAS,upstream_gene_variant,,ENST00000513731,;KLB,downstream_gene_variant,,ENST00000257408,;LIAS,upstream_gene_variant,,ENST00000340169,;LIAS,upstream_gene_variant,,ENST00000515061,;RPL9,non_coding_transcript_exon_variant,,ENST00000503277,;RPL9,non_coding_transcript_exon_variant,,ENST00000511075,;RPL9,non_coding_transcript_exon_variant,,ENST00000437992,;RPL9,non_coding_transcript_exon_variant,,ENST00000514842,;RPL9,upstream_gene_variant,,ENST00000511643,;LIAS,upstream_gene_variant,,ENST00000509519,;LIAS,upstream_gene_variant,,ENST00000424936,;	823	647	573	SUCCESS
PDS5A	23244	.	GRCh37	4	39891910	39891910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	64	0	ENST00000303538.8:c.1845G>T	p.Leu615Phe	p.L615F	ENST00000303538	NM_001100399.1	615	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS47045.1	1845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCAACAG	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2	.	.	ENSP00000303427	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,missense_variant,p.Leu615Phe,ENST00000303538,;	2385	64	71	SUCCESS
LIMCH1	22998	.	GRCh37	4	41621359	41621359	+	synonymous_variant	Silent	SNP	C	C	T	rs766450435	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	51	87	0	ENST00000313860.7:c.837C>T	p.Tyr279=	p.Y279=	ENST00000313860	NM_014988.2	279	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS33977.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTACGTCCC	NONE	byFrequency	.	hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3	.	.	ENSP00000316891	.	8/27	.	.	.	.	.	.	.	.	rs766450435	8/27	PASS	ENST00000313860	Transcript	.	.	ENSG00000064042	29191	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIMC1_HUMAN	LIMCH1	HGNC	D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN	.	UPI0000D61554	SNV	LIMCH1,synonymous_variant,p.%3D,ENST00000512820,;LIMCH1,synonymous_variant,p.%3D,ENST00000503057,;LIMCH1,synonymous_variant,p.%3D,ENST00000509638,;LIMCH1,synonymous_variant,p.%3D,ENST00000508501,;LIMCH1,synonymous_variant,p.%3D,ENST00000508466,;LIMCH1,synonymous_variant,p.%3D,ENST00000511496,;LIMCH1,synonymous_variant,p.%3D,ENST00000381753,;LIMCH1,synonymous_variant,p.%3D,ENST00000512946,;LIMCH1,synonymous_variant,p.%3D,ENST00000512632,;LIMCH1,synonymous_variant,p.%3D,ENST00000509454,;LIMCH1,synonymous_variant,p.%3D,ENST00000446625,;LIMCH1,synonymous_variant,p.%3D,ENST00000313860,;LIMCH1,synonymous_variant,p.%3D,ENST00000513024,;LIMCH1,synonymous_variant,p.%3D,ENST00000514096,;LIMCH1,synonymous_variant,p.%3D,ENST00000396595,;LIMCH1,synonymous_variant,p.%3D,ENST00000509277,;	891	87	105	SUCCESS
SCFD2	152579	.	GRCh37	4	54232118	54232118	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000401642.3:c.-10A>G		p.*4*	ENST00000401642	NM_152540.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33984.1	.	RADIA|MUTECT|MUSE	.	GGGGATTCGCA	NONE	.	.	.	.	.	ENSP00000384182	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000401642	Transcript	.	.	ENSG00000184178	30676	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCFD2_HUMAN	SCFD2	HGNC	D6RCK6_HUMAN	.	UPI000006FB05	SNV	SCFD2,5_prime_UTR_variant,,ENST00000388940,;SCFD2,5_prime_UTR_variant,,ENST00000401642,;SCFD2,intron_variant,,ENST00000503450,;	125	14	12	SUCCESS
CEP135	9662	.	GRCh37	4	56883871	56883871	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs911801070	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	210	8	214	0	ENST00000257287.4:c.2860T>C	p.Ser954Pro	p.S954P	ENST00000257287	NM_025009.4	954	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS33986.1	2860	MUTECT|MUSE	.	CCATGTCTCGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10	.	.	ENSP00000257287	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000257287	Transcript	1	.	ENSG00000174799	29086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.636)	.	tolerated(0.09)	.	CP135_HUMAN	CEP135	HGNC	.	.	UPI00003CE420	SNV	CEP135,missense_variant,p.Ser954Pro,ENST00000257287,;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	2984	214	219	SUCCESS
EVC2	132884	.	GRCh37	4	5696122	5696122	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	387	160	365	0	ENST00000344408.5:c.390del	p.Phe130LeufsTer17	p.F130Lfs*17	ENST00000344408	NM_147127.4	130	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS3382.2	390	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTATAAAAGC	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	deletion	EVC2,frameshift_variant,p.Phe130LeufsTer17,ENST00000344938,;EVC2,frameshift_variant,p.Phe50LeufsTer17,ENST00000310917,;EVC2,frameshift_variant,p.Phe130LeufsTer17,ENST00000344408,;EVC2,frameshift_variant,p.Phe50LeufsTer17,ENST00000475313,;EVC2,frameshift_variant,p.Phe50LeufsTer17,ENST00000509670,;	444	365	547	SUCCESS
KIAA1211	0	.	GRCh37	4	57181271	57181271	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	112	248	0	ENST00000504228.1:c.1603C>T	p.Arg535Trp	p.R535W	ENST00000504228		535	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS43230.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCCGGCCC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	.	.	ENSP00000423366	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0)	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,missense_variant,p.Arg535Trp,ENST00000504228,;KIAA1211,missense_variant,p.Arg535Trp,ENST00000264229,;KIAA1211,missense_variant,p.Arg528Trp,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	1708	249	279	SUCCESS
REST	5978	.	GRCh37	4	57777460	57777460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	58	191	0	ENST00000309042.7:c.656A>G	p.Asp219Gly	p.D219G	ENST00000309042	NM_005612.4	219	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3509.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGACCGCT	NONE	.	.	hmmpanther:PTHR10032:SF71,hmmpanther:PTHR10032,Pfam_domain:PF13894,SMART_domains:SM00355	.	.	ENSP00000311816	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000309042	Transcript	.	.	ENSG00000084093	9966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.14)	.	REST_HUMAN	REST	HGNC	.	.	UPI000013FBF6	SNV	REST,missense_variant,p.Asp219Gly,ENST00000309042,;REST,non_coding_transcript_exon_variant,,ENST00000514063,;REST,downstream_gene_variant,,ENST00000503522,;REST,downstream_gene_variant,,ENST00000511065,;	970	191	144	SUCCESS
LPHN3	0	.	GRCh37	4	62849207	62849207	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	11	146	0	ENST00000514591.1:c.2918T>C	p.Phe973Ser	p.F973S	ENST00000514591		973	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS54768.1	2918	MUTECT|MUSE	.	GGTTTTTGAGA	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000422533	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Phe1041Ser,ENST00000507625,;LPHN3,missense_variant,p.Phe973Ser,ENST00000508946,;LPHN3,missense_variant,p.Phe973Ser,ENST00000506700,;LPHN3,missense_variant,p.Phe431Ser,ENST00000502815,;LPHN3,missense_variant,p.Phe1041Ser,ENST00000509896,;LPHN3,missense_variant,p.Phe1041Ser,ENST00000511324,;LPHN3,missense_variant,p.Phe973Ser,ENST00000545650,;LPHN3,missense_variant,p.Phe1041Ser,ENST00000506720,;LPHN3,missense_variant,p.Phe973Ser,ENST00000504896,;LPHN3,missense_variant,p.Phe973Ser,ENST00000514591,;LPHN3,missense_variant,p.Phe1041Ser,ENST00000508693,;LPHN3,missense_variant,p.Phe1041Ser,ENST00000506746,;LPHN3,missense_variant,p.Phe973Ser,ENST00000514996,;LPHN3,missense_variant,p.Phe973Ser,ENST00000512091,;LPHN3,missense_variant,p.Phe973Ser,ENST00000514157,;LPHN3,missense_variant,p.Phe1041Ser,ENST00000507164,;	3247	146	157	SUCCESS
MRFAP1L1	114932	.	GRCh37	4	6711572	6711572	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	17	255	1	ENST00000320848.6:c.-216T>C		p.*72*	ENST00000320848	NM_203462.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3392.1	.	MUTECT|MUSE	.	AAATAAGCGGC	NONE	.	.	.	.	.	ENSP00000318154	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000320848	Transcript	.	.	ENSG00000178988	28796	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MR1L1_HUMAN	MRFAP1L1	HGNC	.	.	UPI000006D85D	SNV	MRFAP1L1,5_prime_UTR_variant,,ENST00000320848,;MRFAP1L1,upstream_gene_variant,,ENST00000500563,;	36	256	243	SUCCESS
TBC1D14	57533	.	GRCh37	4	6925097	6925097	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	112	0	ENST00000409757.4:c.-17-3T>A		p.X6_splice	ENST00000409757	NM_020773.2	6		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3394.2	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTAGTTT	NONE	.	.	.	.	.	ENSP00000386921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409757	Transcript	.	.	ENSG00000132405	29246	.	.	LOW	1/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBC14_HUMAN	TBC1D14	HGNC	C9JP26_HUMAN,C9J541_HUMAN	.	UPI000020BAB6	SNV	TBC1D14,splice_region_variant,,ENST00000427736,;TBC1D14,splice_region_variant,,ENST00000448507,;TBC1D14,splice_region_variant,,ENST00000409757,;TBC1D14,splice_region_variant,,ENST00000444368,;	.	112	114	SUCCESS
CSN1S1	1446	.	GRCh37	4	70810695	70810695	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	68	135	0	ENST00000246891.4:c.536del	p.Asn179IlefsTer16	p.N179Ifs*16	ENST00000246891	NM_001890.1	177	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS47067.1	530	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTATGAAAAAA	NONE	.	.	hmmpanther:PTHR10240:SF0,hmmpanther:PTHR10240	.	.	ENSP00000246891	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000246891	Transcript	.	.	ENSG00000126545	2445	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASA1_HUMAN	CSN1S1	HGNC	.	.	UPI0000126FCB	deletion	CSN1S1,frameshift_variant,p.Asn163IlefsTer16,ENST00000505782,;CSN1S1,frameshift_variant,p.Asn70IlefsTer16,ENST00000510936,;CSN1S1,frameshift_variant,p.Asn170IlefsTer16,ENST00000507763,;CSN1S1,frameshift_variant,p.Asn179IlefsTer16,ENST00000246891,;CSN1S1,frameshift_variant,p.Asn170IlefsTer16,ENST00000444405,;CSN1S1,frameshift_variant,p.Asn171IlefsTer16,ENST00000507772,;	579	135	214	SUCCESS
AMTN	401138	.	GRCh37	4	71394475	71394475	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	85	197	0	ENST00000339336.4:c.330G>A		p.X110_splice	ENST00000339336	NM_212557.2	110	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS3542.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGTAAA	NONE	.	.	.	.	.	ENSP00000341013	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000339336	Transcript	.	.	ENSG00000187689	33188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMTN_HUMAN	AMTN	HGNC	F1T0L8_HUMAN	.	UPI00000389F3	SNV	AMTN,synonymous_variant,p.%3D,ENST00000504451,;AMTN,synonymous_variant,p.%3D,ENST00000339336,;	460	197	236	SUCCESS
IGJ	0	.	GRCh37	4	71532164	71532164	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	9	188	0	ENST00000254801.4:c.44T>A	p.Ile15Asn	p.I15N	ENST00000254801	NM_144646.3	15	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS3545.1	44	MUTECT|MUSE	.	CCTTAATAAAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10070,hmmpanther:PTHR10070:SF2	.	.	ENSP00000254801	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000254801	Transcript	.	.	ENSG00000132465	5713	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.06)	.	IGJ_HUMAN	IGJ	HGNC	C9JA05_HUMAN	.	UPI00000700B2	SNV	IGJ,missense_variant,p.Ile15Asn,ENST00000254801,;IGJ,missense_variant,p.Ile15Asn,ENST00000391614,;IGJ,missense_variant,p.Ile15Asn,ENST00000510437,;IGJ,missense_variant,p.Ile15Asn,ENST00000470866,;IGJ,missense_variant,p.Ile15Asn,ENST00000510614,;IGJ,missense_variant,p.Ile15Asn,ENST00000543780,;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000509221,;	214	188	203	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73149372	73149372	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	57	0	ENST00000286657.4:c.3099G>A	p.Leu1033=	p.L1033=	ENST00000286657	NM_014243.2	1033	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3553.1	3099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCCAACAC	NONE	.	.	PROSITE_profiles:PS50900,hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723	.	.	ENSP00000286657	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,synonymous_variant,p.%3D,ENST00000286657,;	3136	57	54	SUCCESS
PF4V1	5197	.	GRCh37	4	74719172	74719172	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	81	211	0	ENST00000226524.3:c.93C>T	p.Phe31=	p.F31=	ENST00000226524	NM_002620.2	31	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS3561.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCGCCAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF38,Superfamily_domains:SSF54117,Prints_domain:PR00436	.	.	ENSP00000226524	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000226524	Transcript	.	.	ENSG00000109272	8862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PF4V_HUMAN	PF4V1	HGNC	.	.	UPI000013171A	SNV	PF4V1,synonymous_variant,p.%3D,ENST00000226524,;CXCL6,downstream_gene_variant,,ENST00000503446,;PPBPP1,downstream_gene_variant,,ENST00000510807,;	267	211	214	SUCCESS
PPEF2	5470	.	GRCh37	4	76811198	76811198	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	29	158	0	ENST00000286719.7:c.329T>C	p.Val110Ala	p.V110A	ENST00000286719	NM_006239.2	110	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS34013.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTACCTCT	NONE	.	.	Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,Pfam_domain:PF08321,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214	.	.	ENSP00000286719	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,missense_variant,p.Val110Ala,ENST00000286719,;PPEF2,downstream_gene_variant,,ENST00000510607,;PPEF2,upstream_gene_variant,,ENST00000503352,;PPEF2,missense_variant,p.Val110Ala,ENST00000511880,;	686	158	167	SUCCESS
NUP54	53371	.	GRCh37	4	77069533	77069533	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs887787237	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	400	9	450	0	ENST00000264883.3:c.-6C>G		p.*2*	ENST00000264883	NM_001278603.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3576.1	.	MUTECT|MUSE	.	GTCGCGAAAGC	NONE	.	.	.	.	.	ENSP00000264883	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000264883	Transcript	.	.	ENSG00000138750	17359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUP54_HUMAN	NUP54	HGNC	Q53H29_HUMAN,E7EUM5_HUMAN	.	UPI0000036166	SNV	NUP54,5_prime_UTR_variant,,ENST00000514987,;NUP54,5_prime_UTR_variant,,ENST00000514901,;NUP54,5_prime_UTR_variant,,ENST00000342467,;NUP54,5_prime_UTR_variant,,ENST00000458189,;NUP54,5_prime_UTR_variant,,ENST00000264883,;NUP54,non_coding_transcript_exon_variant,,ENST00000508583,;NUP54,upstream_gene_variant,,ENST00000510884,;NUP54,upstream_gene_variant,,ENST00000506098,;NUP54,upstream_gene_variant,,ENST00000515460,;NUP54,upstream_gene_variant,,ENST00000510569,;NUP54,upstream_gene_variant,,ENST00000514307,;NUP54,5_prime_UTR_variant,,ENST00000507257,;NUP54,5_prime_UTR_variant,,ENST00000512151,;NUP54,5_prime_UTR_variant,,ENST00000502850,;NUP54,5_prime_UTR_variant,,ENST00000513352,;NUP54,non_coding_transcript_exon_variant,,ENST00000504173,;	136	450	409	SUCCESS
CCDC158	339965	.	GRCh37	4	77300543	77300543	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	37	74	0	ENST00000388914.3:c.929A>T	p.Asn310Ile	p.N310I	ENST00000388914	NM_001042784.1	310	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS43242.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTTTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140	.	.	ENSP00000373566	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000388914	Transcript	.	.	ENSG00000163749	26374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CD158_HUMAN	CCDC158	HGNC	.	.	UPI00004DF23B	SNV	CCDC158,missense_variant,p.Asn310Ile,ENST00000434846,;CCDC158,missense_variant,p.Asn310Ile,ENST00000388914,;CCDC158,downstream_gene_variant,,ENST00000509851,;	1082	74	79	SUCCESS
AFAP1	60312	.	GRCh37	4	7783227	7783227	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	78	189	0	ENST00000358461.2:c.1531-2624A>T		p.*511*	ENST00000358461	NM_198595.2	553		0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS47010.1	1658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTCAGCA	NONE	.	.	hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8	.	.	ENSP00000410689	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000420658	Transcript	.	.	ENSG00000196526	24017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.05)	.	AFAP1_HUMAN	AFAP1	HGNC	.	.	UPI000048041E	SNV	AFAP1,missense_variant,p.Asp553Val,ENST00000382543,;AFAP1,missense_variant,p.Asp553Val,ENST00000420658,;AFAP1,intron_variant,,ENST00000360265,;AFAP1,intron_variant,,ENST00000358461,;AFAP1-AS1,downstream_gene_variant,,ENST00000608442,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513842,;AFAP1,upstream_gene_variant,,ENST00000505447,;	1931	189	168	SUCCESS
ABLIM2	84448	.	GRCh37	4	8031388	8031389	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	120	47	115	0	ENST00000341937.5:c.1162dup	p.Arg388ProfsTer5	p.R388Pfs*5	ENST00000341937	NM_001130084.1	388	cgt/cCgt	0	.	.	.	.	.	G	R/PX	protein_coding	YES	CCDS47014.1	1162-1163	VARSCANI*|PINDEL	.	CTGGACGGCTG	NONE	.	.	hmmpanther:PTHR24213:SF6,hmmpanther:PTHR24213	.	.	ENSP00000393511	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000447017	Transcript	.	.	ENSG00000163995	19195	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABLM2_HUMAN	ABLIM2	HGNC	Q4W5G4_HUMAN	.	UPI00017994EF	insertion	ABLIM2,frameshift_variant,p.Arg156ProfsTer12,ENST00000510277,;ABLIM2,frameshift_variant,p.Arg388ProfsTer12,ENST00000447017,;ABLIM2,frameshift_variant,p.Arg388ProfsTer18,ENST00000407564,;ABLIM2,frameshift_variant,p.Arg388ProfsTer5,ENST00000361581,;ABLIM2,frameshift_variant,p.Arg388ProfsTer5,ENST00000545242,;ABLIM2,frameshift_variant,p.Arg399ProfsTer18,ENST00000361737,;ABLIM2,frameshift_variant,p.Arg399ProfsTer18,ENST00000428004,;ABLIM2,frameshift_variant,p.Arg388ProfsTer5,ENST00000341937,;ABLIM2,frameshift_variant,p.Arg388ProfsTer5,ENST00000296372,;ABLIM2,frameshift_variant,p.Arg399ProfsTer18,ENST00000546334,;ABLIM2,frameshift_variant,p.Arg156ProfsTer9,ENST00000318888,;ABLIM2,frameshift_variant,p.Arg388ProfsTer18,ENST00000505872,;ABLIM2,frameshift_variant,p.Arg156ProfsTer9,ENST00000514025,;ABLIM2,non_coding_transcript_exon_variant,,ENST00000515079,;	1182-1183	115	167	SUCCESS
HELQ	113510	.	GRCh37	4	84358187	84358187	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	72	129	0	ENST00000295488.3:c.1872C>T	p.Gly624=	p.G624=	ENST00000295488	NM_133636.2	624	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3603.1	1872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTGCCAAT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF57,hmmpanther:PTHR11752,SMART_domains:SM00490	.	.	ENSP00000295488	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000295488	Transcript	.	.	ENSG00000163312	18536	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HELQ_HUMAN	HELQ	HGNC	.	.	UPI000013E25F	SNV	HELQ,synonymous_variant,p.%3D,ENST00000510985,;HELQ,synonymous_variant,p.%3D,ENST00000295488,;HELQ,3_prime_UTR_variant,,ENST00000508591,;	2035	129	168	SUCCESS
NKX6-1	4825	.	GRCh37	4	85419145	85419145	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs745904099	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	70	0	ENST00000295886.4:c.237del	p.Leu80SerfsTer23	p.L80Sfs*23	ENST00000295886	NM_006168.2	79	ggG/gg	0	A:0.0003	.	.	.	.	-	G/X	protein_coding	YES	CCDS3607.1	237	VARSCANI*|PINDEL	.	TGAGAGCCCCCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340:SF31,hmmpanther:PTHR24340	.	A:0.0001	ENSP00000295886	.	1/3	.	.	.	.	.	.	.	.	rs371770743	1/3	PASS	ENST00000295886	Transcript	.	.	ENSG00000163623	7839	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NKX61_HUMAN	NKX6-1	HGNC	F8VWZ9_HUMAN	.	UPI000013E2C6	deletion	NKX6-1,frameshift_variant,p.Leu80SerfsTer23,ENST00000295886,;NKX6-1,upstream_gene_variant,,ENST00000515820,;	459	70	115	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86491687	86491687	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	111	0	ENST00000395184.1:c.-8G>T		p.*3*	ENST00000395184	NM_001025616.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34025.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAGCTTGA	NONE	.	.	.	.	.	ENSP00000378611	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,5_prime_UTR_variant,,ENST00000503995,;ARHGAP24,5_prime_UTR_variant,,ENST00000395184,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000506421,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000505856,;ARHGAP24,upstream_gene_variant,,ENST00000509709,;	459	111	93	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86916149	86916149	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	50	160	0	ENST00000395184.1:c.1345del	p.Thr449ProfsTer17	p.T449Pfs*17	ENST00000395184	NM_001025616.2	448	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS34025.1	1342	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGAGAAAACC	NONE	.	.	hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5	.	.	ENSP00000378611	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	deletion	ARHGAP24,frameshift_variant,p.Thr356ProfsTer17,ENST00000264343,;ARHGAP24,frameshift_variant,p.Thr364ProfsTer17,ENST00000514229,;ARHGAP24,frameshift_variant,p.Thr449ProfsTer17,ENST00000395184,;ARHGAP24,frameshift_variant,p.Thr354ProfsTer17,ENST00000395183,;	1808	160	200	SUCCESS
PTPN13	5783	.	GRCh37	4	87622823	87622823	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	76	204	0	ENST00000411767.2:c.1064G>A	p.Gly355Asp	p.G355D	ENST00000411767		355	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47093.1	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGCCCTC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	7/48	.	.	.	.	.	.	.	.	.	7/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0.03)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Gly355Asp,ENST00000411767,;PTPN13,missense_variant,p.Gly355Asp,ENST00000436978,;PTPN13,missense_variant,p.Gly355Asp,ENST00000316707,;PTPN13,missense_variant,p.Gly355Asp,ENST00000511467,;PTPN13,missense_variant,p.Gly355Asp,ENST00000427191,;	1544	204	179	SUCCESS
HSD17B13	345275	.	GRCh37	4	88239575	88239575	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	4	82	0	ENST00000328546.4:c.224A>G	p.Glu75Gly	p.E75G	ENST00000328546	NM_178135.3	75	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS3618.1	224	MUTECT|MUSE	.	CAGTTTCCTCC	NONE	.	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF247	.	.	ENSP00000333300	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000328546	Transcript	.	.	ENSG00000170509	18685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.812)	.	deleterious(0.02)	.	DHB13_HUMAN	HSD17B13	HGNC	.	.	UPI00000350AE	SNV	HSD17B13,missense_variant,p.Glu75Gly,ENST00000328546,;HSD17B13,intron_variant,,ENST00000302219,;RP11-529H2.2,non_coding_transcript_exon_variant,,ENST00000508163,;	289	82	108	SUCCESS
SPP1	6696	.	GRCh37	4	88903791	88903791	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	81	163	0	ENST00000395080.3:c.688C>T	p.Leu230=	p.L230=	ENST00000395080	NM_001040058.1	230	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43250.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCTGGAT	NONE	.	.	hmmpanther:PTHR10607,hmmpanther:PTHR10607:SF0,Pfam_domain:PF00865,SMART_domains:SM00017	.	.	ENSP00000378517	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000395080	Transcript	1	.	ENSG00000118785	11255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSTP_HUMAN	SPP1	HGNC	F2YQ21_HUMAN	.	UPI0000000E0B	SNV	SPP1,synonymous_variant,p.%3D,ENST00000508233,;SPP1,synonymous_variant,p.%3D,ENST00000360804,;SPP1,synonymous_variant,p.%3D,ENST00000395080,;SPP1,synonymous_variant,p.%3D,ENST00000237623,;SPP1,non_coding_transcript_exon_variant,,ENST00000509659,;SPP1,downstream_gene_variant,,ENST00000509334,;SPP1,downstream_gene_variant,,ENST00000513981,;SPP1,downstream_gene_variant,,ENST00000508002,;SPP1,downstream_gene_variant,,ENST00000505146,;SPP1,downstream_gene_variant,,ENST00000504310,;	815	163	193	SUCCESS
NAP1L5	266812	.	GRCh37	4	89618583	89618583	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	69	0	ENST00000323061.5:c.323del	p.Lys108SerfsTer82	p.K108Sfs*82	ENST00000323061	NM_153757.2	108	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS3632.1	323	VARSCANI*|PINDEL	.	TTATACTTTTTT	BUFFER|p.Y109C|c.326A>G|3	.	.	Superfamily_domains:SSF143113,Pfam_domain:PF00956,hmmpanther:PTHR11875:SF35,hmmpanther:PTHR11875	.	.	ENSP00000320488	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323061	Transcript	.	.	ENSG00000177432	19968	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NP1L5_HUMAN	NAP1L5	HGNC	.	.	UPI000004A03B	deletion	NAP1L5,frameshift_variant,p.Lys108SerfsTer82,ENST00000323061,;HERC3,intron_variant,,ENST00000402738,;HERC3,intron_variant,,ENST00000543130,;HERC3,intron_variant,,ENST00000264345,;	804	69	106	SUCCESS
FAM13A	10144	.	GRCh37	4	89689146	89689146	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	60	228	0	ENST00000264344.5:c.1523T>C	p.Met508Thr	p.M508T	ENST00000264344	NM_014883.3	508	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS34029.1	1523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACATCCAT	NONE	.	.	hmmpanther:PTHR15904:SF18,hmmpanther:PTHR15904	.	.	ENSP00000264344	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000264344	Transcript	1	.	ENSG00000138640	19367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	FA13A_HUMAN	FAM13A	HGNC	B4DPB4_HUMAN	.	UPI0000481AF3	SNV	FAM13A,missense_variant,p.Met94Thr,ENST00000511976,;FAM13A,missense_variant,p.Met182Thr,ENST00000508369,;FAM13A,missense_variant,p.Met508Thr,ENST00000264344,;FAM13A,missense_variant,p.Met168Thr,ENST00000503556,;FAM13A,missense_variant,p.Met182Thr,ENST00000395002,;FAM13A,missense_variant,p.Met154Thr,ENST00000513837,;FAM13A,non_coding_transcript_exon_variant,,ENST00000502459,;FAM13A,missense_variant,p.Met168Thr,ENST00000504836,;FAM13A,non_coding_transcript_exon_variant,,ENST00000502914,;FAM13A,intron_variant,,ENST00000507352,;	1731	228	209	SUCCESS
CCSER1	401145	.	GRCh37	4	92519977	92519977	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	51	145	0	ENST00000509176.1:c.2472C>T	p.Thr824=	p.T824=	ENST00000509176	NM_001145065.1	824	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47099.1	2472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCGTTGG	NONE	.	.	.	.	.	ENSP00000425040	.	11/11	.	.	.	.	.	.	.	.	COSM3781216,COSM3781215	11/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,synonymous_variant,p.%3D,ENST00000509176,;CCSER1,synonymous_variant,p.%3D,ENST00000333691,;	2760	145	159	SUCCESS
SLC25A46	91137	.	GRCh37	5	110074819	110074819	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	138	0	ENST00000355943.3:c.-2C>T		p.*1*	ENST00000355943	NM_138773.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGCGATGC	NONE	.	.	.	.	.	ENSP00000348211	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000355943	Transcript	.	.	ENSG00000164209	25198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2546_HUMAN	SLC25A46	HGNC	E7EVY2_HUMAN,B7Z6C8_HUMAN,B3KRE6_HUMAN	.	UPI00000711AA	SNV	SLC25A46,5_prime_UTR_variant,,ENST00000355943,;SLC25A46,5_prime_UTR_variant,,ENST00000447245,;SLC25A46,intron_variant,,ENST00000509442,;SLC25A46,intron_variant,,ENST00000513807,;SLC25A46,upstream_gene_variant,,ENST00000504098,;TMEM232,upstream_gene_variant,,ENST00000515278,;TMEM232,upstream_gene_variant,,ENST00000512886,;SLC25A46,intron_variant,,ENST00000508781,;TMEM232,upstream_gene_variant,,ENST00000503527,;	125	138	133	SUCCESS
KCNN2	3781	.	GRCh37	5	113740534	113740534	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	101	0	ENST00000264773.3:c.982A>C	p.Thr328Pro	p.T328P	ENST00000264773	NM_001278204.1	328	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS4114.1	982	MUTECT|MUSE	.	CATGGACTGTC	NONE	.	.	hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000427120	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000512097	Transcript	.	.	ENSG00000080709	6291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.96)	.	deleterious(0.04)	.	KCNN2_HUMAN	KCNN2	HGNC	.	.	UPI000013D56A	SNV	KCNN2,missense_variant,p.Thr328Pro,ENST00000512097,;KCNN2,missense_variant,p.Thr328Pro,ENST00000264773,;KCNN2,intron_variant,,ENST00000507750,;	2000	101	94	SUCCESS
TRIM36	55521	.	GRCh37	5	114462349	114462349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	58	132	0	ENST00000282369.3:c.2038T>C	p.Tyr680His	p.Y680H	ENST00000282369	NM_018700.3	680	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS4115.1	2038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAGAAAT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF29,Pfam_domain:PF00622,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000282369	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000282369	Transcript	.	.	ENSG00000152503	16280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRI36_HUMAN	TRIM36	HGNC	E9PBG3_HUMAN	.	UPI000013DCD9	SNV	TRIM36,missense_variant,p.Tyr525His,ENST00000514154,;TRIM36,missense_variant,p.Tyr680His,ENST00000282369,;TRIM36,missense_variant,p.Tyr668His,ENST00000513154,;	2160	132	124	SUCCESS
TMED7-TICAM2	100302736	.	GRCh37	5	114916490	114916490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763977327	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	39	120	0	ENST00000282382.4:c.971C>T	p.Thr324Met	p.T324M	ENST00000282382		324	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS54887.1	971	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGTATAG	NONE	.	.	PROSITE_profiles:PS50104,Pfam_domain:PF13676,Gene3D:3.40.50.10140,Superfamily_domains:SSF52200	.	.	ENSP00000282382	.	4/4	.	.	.	.	.	.	.	.	rs763977327	4/4	PASS	ENST00000282382	Transcript	.	.	ENSG00000251201	33945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	deleterious_low_confidence(0)	.	.	TMED7-TICAM2	HGNC	G3V2Y2_HUMAN	.	UPI00003779F1	SNV	TMED7-TICAM2,missense_variant,p.Thr324Met,ENST00000282382,;TICAM2,missense_variant,p.Thr324Met,ENST00000408996,;TICAM2,missense_variant,p.Thr155Met,ENST00000427199,;TMED7-TICAM2,3_prime_UTR_variant,,ENST00000333314,;TICAM2,downstream_gene_variant,,ENST00000513729,;TMED7-TICAM2,downstream_gene_variant,,ENST00000514548,;	1340	120	115	SUCCESS
AQPEP	0	.	GRCh37	5	115338562	115338562	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	342	142	397	0	ENST00000357872.4:c.1856del	p.Asn619MetfsTer7	p.N619Mfs*7	ENST00000357872	NM_173800.4	617	atA/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS4124.1	1851	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGGATAAAAAA	NONE	.	.	hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533	.	.	ENSP00000350541	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	deletion	AQPEP,frameshift_variant,p.Asn619MetfsTer7,ENST00000357872,;AQPEP,frameshift_variant,p.Asn136MetfsTer7,ENST00000395528,;AQPEP,frameshift_variant,p.Asn619MetfsTer7,ENST00000504467,;AQPEP,frameshift_variant,p.Asn136MetfsTer7,ENST00000512314,;AQPEP,frameshift_variant,p.Asn136MetfsTer7,ENST00000514509,;AQPEP,frameshift_variant,p.Asn136MetfsTer7,ENST00000503329,;	1975	397	484	SUCCESS
SRFBP1	153443	.	GRCh37	5	121356208	121356208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	109	268	0	ENST00000339397.4:c.778T>A	p.Tyr260Asn	p.Y260N	ENST00000339397	NM_152546.2	260	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS43354.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATATTTT	NONE	.	.	hmmpanther:PTHR23325	.	.	ENSP00000341324	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000339397	Transcript	.	.	ENSG00000151304	26333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	SRFB1_HUMAN	SRFBP1	HGNC	.	.	UPI000006DEC3	SNV	SRFBP1,missense_variant,p.Tyr260Asn,ENST00000339397,;SRFBP1,upstream_gene_variant,,ENST00000504881,;	850	268	278	SUCCESS
ZNF608	57507	.	GRCh37	5	123984368	123984368	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	7	139	0	ENST00000306315.5:c.1709T>G	p.Leu570Arg	p.L570R	ENST00000306315	NM_020747.2	570	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS34219.1	1709	MUTECT|MUSE	.	ACCTCAGGCCG	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4,PROSITE_patterns:PS00028	.	.	ENSP00000307746	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,missense_variant,p.Leu570Arg,ENST00000509799,;ZNF608,missense_variant,p.Leu570Arg,ENST00000306315,;ZNF608,missense_variant,p.Leu570Arg,ENST00000513986,;ZNF608,missense_variant,p.Leu143Arg,ENST00000504926,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000505686,;	2145	139	137	SUCCESS
FNIP1	96459	.	GRCh37	5	131007515	131007515	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	108	0	ENST00000510461.1:c.2622T>C	p.Cys874=	p.C874=	ENST00000510461	NM_133372.2	874	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS34227.1	2622	MUTECT|MUSE	.	TTTGTACACAA	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12	.	.	ENSP00000421985	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000510461	Transcript	.	.	ENSG00000217128	29418	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FNIP1_HUMAN	FNIP1	HGNC	B3KX44_HUMAN	.	UPI00001AEE81	SNV	FNIP1,synonymous_variant,p.%3D,ENST00000307968,;FNIP1,synonymous_variant,p.%3D,ENST00000510461,;FNIP1,synonymous_variant,p.%3D,ENST00000307954,;CTC-432M15.3,intron_variant,,ENST00000514667,;	2718	108	98	SUCCESS
KIF3A	11127	.	GRCh37	5	132069913	132069913	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	64	171	0	ENST00000378746.4:c.264A>T	p.Val88=	p.V88=	ENST00000378746	NM_007054.5	88	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34235.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTACAGA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF53,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000368020	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000378746	Transcript	.	.	ENSG00000131437	6319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF3A_HUMAN	KIF3A	HGNC	.	.	UPI000035B258	SNV	KIF3A,synonymous_variant,p.%3D,ENST00000428744,;KIF3A,synonymous_variant,p.%3D,ENST00000378746,;KIF3A,synonymous_variant,p.%3D,ENST00000378735,;KIF3A,synonymous_variant,p.%3D,ENST00000403231,;	483	171	162	SUCCESS
SOWAHA	134548	.	GRCh37	5	132150795	132150795	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	76	0	ENST00000378693.2:c.1482A>G	p.Arg494=	p.R494=	ENST00000378693	NM_175873.4	494	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS43361.1	1482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGAGGCTT	NONE	.	.	hmmpanther:PTHR14491:SF2,hmmpanther:PTHR14491	.	.	ENSP00000367965	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378693	Transcript	.	.	ENSG00000198944	27033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWAHA_HUMAN	SOWAHA	HGNC	.	.	UPI0000413F35	SNV	SOWAHA,synonymous_variant,p.%3D,ENST00000378693,;AC004775.5,downstream_gene_variant,,ENST00000607389,;	1763	76	94	SUCCESS
SHROOM1	134549	.	GRCh37	5	132159057	132159057	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757897489	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	69	0	ENST00000378679.3:c.2111G>A	p.Arg704Gln	p.R704Q	ENST00000378679	NM_001172700.1	704	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS54902.1	2111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCGGCTG	NONE	byFrequency	.	PROSITE_profiles:PS51307,hmmpanther:PTHR15012,Pfam_domain:PF08687	.	.	ENSP00000367950	.	9/10	.	.	.	.	.	.	.	.	rs757897489	9/10	PASS	ENST00000378679	Transcript	.	.	ENSG00000164403	24084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	SHRM1_HUMAN	SHROOM1	HGNC	C9JXU1_HUMAN	.	UPI000036FD4D	SNV	SHROOM1,missense_variant,p.Arg704Gln,ENST00000319854,;SHROOM1,missense_variant,p.Arg635Gln,ENST00000378676,;SHROOM1,missense_variant,p.Arg704Gln,ENST00000378679,;SHROOM1,downstream_gene_variant,,ENST00000440118,;SHROOM1,non_coding_transcript_exon_variant,,ENST00000488072,;SHROOM1,downstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;	2916	69	62	SUCCESS
JADE2	23338	.	GRCh37	5	133901859	133901859	+	synonymous_variant	Silent	SNP	C	C	T	rs143825734	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	140	0	ENST00000395003.1:c.1023C>T	p.His341=	p.H341=	ENST00000395003	NM_015288.4	341	caC/caT	0	T:0.0009	T:0.0008	.	T:0.0014	.	T	H	protein_coding	YES	CCDS4176.1	1023	MUTECT|MUSE	.	GACCACGGCCT	NONE	byFrequency|byCluster|by1000G	.	SMART_domains:SM00249,Pfam_domain:PF13832,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84	T:0	T:0	ENSP00000378451	T:0	9/11	.	.	.	.	.	.	.	.	rs143825734	9/11	PASS	ENST00000395003	Transcript	.	T:0.0004	ENSG00000043143	22984	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	JADE2_HUMAN	JADE2	HGNC	D6R9B8_HUMAN,C9J929_HUMAN	.	UPI00002331C9	SNV	JADE2,synonymous_variant,p.%3D,ENST00000395003,;JADE2,synonymous_variant,p.%3D,ENST00000282605,;JADE2,synonymous_variant,p.%3D,ENST00000402835,;JADE2,synonymous_variant,p.%3D,ENST00000361895,;JADE2,downstream_gene_variant,,ENST00000431355,;JADE2,non_coding_transcript_exon_variant,,ENST00000470876,;	1202	140	109	SUCCESS
CLPTM1L	81037	.	GRCh37	5	1341809	1341809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	113	0	ENST00000320895.5:c.430C>T	p.Leu144Phe	p.L144F	ENST00000320895	NM_030782.3	144	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3862.1	430	MUTECT|MUSE	.	GGTGAGCAGGT	NONE	.	.	hmmpanther:PTHR21347:SF1,hmmpanther:PTHR21347,Pfam_domain:PF05602	.	.	ENSP00000313854	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000320895	Transcript	.	.	ENSG00000049656	24308	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	CLP1L_HUMAN	CLPTM1L	HGNC	B3KY18_HUMAN	.	UPI00000707DF	SNV	CLPTM1L,missense_variant,p.Leu144Phe,ENST00000320927,;CLPTM1L,missense_variant,p.Leu144Phe,ENST00000320895,;CLPTM1L,missense_variant,p.Leu11Phe,ENST00000507807,;CLPTM1L,upstream_gene_variant,,ENST00000511786,;	688	113	92	SUCCESS
PKD2L2	27039	.	GRCh37	5	137228299	137228299	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	139	0	ENST00000508883.1:c.264G>T	p.Trp88Cys	p.W88C	ENST00000508883		88	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS43367.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGAAGGT	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47,Pfam_domain:PF08016	.	.	ENSP00000290431	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000290431	Transcript	.	.	ENSG00000078795	9012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	PK2L2_HUMAN	PKD2L2	HGNC	D6RF71_HUMAN,D6RBX8_HUMAN	.	UPI000049E016	SNV	PKD2L2,missense_variant,p.Trp88Cys,ENST00000508883,;PKD2L2,missense_variant,p.Trp54Cys,ENST00000350250,;PKD2L2,missense_variant,p.Trp88Cys,ENST00000290431,;PKD2L2,missense_variant,p.Trp88Cys,ENST00000502810,;PKD2L2,missense_variant,p.Trp88Cys,ENST00000508638,;PKD2L2,5_prime_UTR_variant,,ENST00000503015,;PKD2L2,5_prime_UTR_variant,,ENST00000511176,;MYOT,downstream_gene_variant,,ENST00000239926,;RP11-381K20.2,upstream_gene_variant,,ENST00000508281,;RP11-381K20.2,upstream_gene_variant,,ENST00000514616,;PKD2L2,3_prime_UTR_variant,,ENST00000414094,;	287	139	118	SUCCESS
KIF20A	10112	.	GRCh37	5	137520571	137520571	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1185333526	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	265	8	254	1	ENST00000394894.3:c.1759C>G	p.His587Asp	p.H587D	ENST00000394894	NM_005733.2	587	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS4199.1	1759	MUTECT|MUSE	.	AGATGCATCTC	NONE	.	.	hmmpanther:PTHR24115:SF352,hmmpanther:PTHR24115	.	.	ENSP00000378356	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000394894	Transcript	.	.	ENSG00000112984	9787	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	deleterious(0.01)	.	KI20A_HUMAN	KIF20A	HGNC	D6RBN1_HUMAN,D6R9E4_HUMAN	.	UPI0000000CCE	SNV	KIF20A,missense_variant,p.His587Asp,ENST00000394894,;KIF20A,missense_variant,p.His569Asp,ENST00000508792,;KIF20A,downstream_gene_variant,,ENST00000504621,;KIF20A,downstream_gene_variant,,ENST00000513276,;CDC23,downstream_gene_variant,,ENST00000394886,;KIF20A,missense_variant,p.His19Asp,ENST00000502338,;KIF20A,downstream_gene_variant,,ENST00000503417,;CDC23,downstream_gene_variant,,ENST00000475021,;CDC23,downstream_gene_variant,,ENST00000471692,;CDC23,downstream_gene_variant,,ENST00000464806,;KIF20A,downstream_gene_variant,,ENST00000511638,;	1985	255	273	SUCCESS
CTNNA1	1495	.	GRCh37	5	138163312	138163312	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	117	1	ENST00000302763.7:c.967T>C	p.Ser323Pro	p.S323P	ENST00000302763	NM_001903.2	323	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS34243.1	967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGTCCTGC	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Pfam_domain:PF01044,Prints_domain:PR00805	.	.	ENSP00000304669	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	deleterious(0.03)	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,missense_variant,p.Ser323Pro,ENST00000518825,;CTNNA1,missense_variant,p.Ser323Pro,ENST00000302763,;CTNNA1,missense_variant,p.Ser220Pro,ENST00000355078,;CTNNA1,downstream_gene_variant,,ENST00000518910,;CTNNA1,downstream_gene_variant,,ENST00000520158,;CTNNA1,downstream_gene_variant,,ENST00000518585,;CTNNA1,missense_variant,p.Ser78Pro,ENST00000523275,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000522730,;CTNNA1,downstream_gene_variant,,ENST00000519309,;CTNNA1,upstream_gene_variant,,ENST00000517534,;CTNNA1,downstream_gene_variant,,ENST00000518919,;	1057	118	106	SUCCESS
LRRTM2	26045	.	GRCh37	5	138209301	138209301	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370649836	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	150	0	ENST00000274711.6:c.949G>A	p.Ala317Thr	p.A317T	ENST00000274711	NM_015564.2	317	Gcc/Acc	0	A:0.0003	.	.	.	.	T	A/T	protein_coding	YES	CCDS47272.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGCGCTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF20,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	A:0.0001	ENSP00000274711	.	2/2	.	.	.	.	.	.	.	.	rs370649836	2/2	PASS	ENST00000274711	Transcript	.	.	ENSG00000146006	19409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.35)	.	LRRT2_HUMAN	LRRTM2	HGNC	.	.	UPI0000070039	SNV	LRRTM2,missense_variant,p.Ala317Thr,ENST00000274711,;LRRTM2,3_prime_UTR_variant,,ENST00000518785,;CTNNA1,intron_variant,,ENST00000302763,;LRRTM2,intron_variant,,ENST00000521094,;CTNNA1,intron_variant,,ENST00000355078,;CTNNA1,intron_variant,,ENST00000518825,;CTNNA1,upstream_gene_variant,,ENST00000521640,;CTNNA1,upstream_gene_variant,,ENST00000517656,;CTNNA1,upstream_gene_variant,,ENST00000522013,;CTNNA1,upstream_gene_variant,,ENST00000520865,;CTNNA1,upstream_gene_variant,,ENST00000520260,;CTNNA1,upstream_gene_variant,,ENST00000518381,;CTNNA1,upstream_gene_variant,,ENST00000523298,;CTNNA1,upstream_gene_variant,,ENST00000523685,;CTNNA1,upstream_gene_variant,,ENST00000519634,;CTNNA1,upstream_gene_variant,,ENST00000540387,;CTNNA1,upstream_gene_variant,,ENST00000519768,;CTNNA1,upstream_gene_variant,,ENST00000519116,;CTNNA1,upstream_gene_variant,,ENST00000521683,;CTNNA1,upstream_gene_variant,,ENST00000517533,;CTNNA1,intron_variant,,ENST00000520400,;LRRTM2,downstream_gene_variant,,ENST00000523537,;CTNNA1,upstream_gene_variant,,ENST00000518263,;CTNNA1,upstream_gene_variant,,ENST00000522052,;CTNNA1,upstream_gene_variant,,ENST00000524292,;CTNNA1,intron_variant,,ENST00000521724,;CTNNA1,intron_variant,,ENST00000517534,;CTNNA1,intron_variant,,ENST00000523275,;	1328	151	122	SUCCESS
DNAH5	1767	.	GRCh37	5	13911493	13911493	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	63	0	ENST00000265104.4:c.1644+2T>G		p.X548_splice	ENST00000265104	NM_001369.2	548		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3882.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTACATGA	NONE	.	.	.	.	.	ENSP00000265104	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	HIGH	12/78	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,splice_donor_variant,,ENST00000265104,;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;	.	63	60	SUCCESS
APBB3	10307	.	GRCh37	5	139939980	139939980	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	46	197	0	ENST00000357560.4:c.1142G>T	p.Gly381Val	p.G381V	ENST00000357560	NM_133173.2	381	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4227.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGCCCAGG	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF10,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000346378	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000354402	Transcript	.	.	ENSG00000113108	20708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	APBB3_HUMAN	APBB3	HGNC	F5H1N5_HUMAN	.	UPI0000414594	SNV	APBB3,missense_variant,p.Gly386Val,ENST00000356738,;APBB3,missense_variant,p.Gly381Val,ENST00000357560,;APBB3,missense_variant,p.Gly379Val,ENST00000412920,;APBB3,missense_variant,p.Gly158Val,ENST00000508496,;APBB3,missense_variant,p.Gly388Val,ENST00000354402,;APBB3,3_prime_UTR_variant,,ENST00000358580,;SRA1,upstream_gene_variant,,ENST00000336283,;APBB3,downstream_gene_variant,,ENST00000511201,;SLC35A4,upstream_gene_variant,,ENST00000323146,;SLC35A4,upstream_gene_variant,,ENST00000514199,;APBB3,downstream_gene_variant,,ENST00000505617,;APBB3,downstream_gene_variant,,ENST00000507279,;SRA1,upstream_gene_variant,,ENST00000520427,;APBB3,downstream_gene_variant,,ENST00000513766,;SLC35A4,upstream_gene_variant,,ENST00000508770,;APBB3,3_prime_UTR_variant,,ENST00000467078,;APBB3,3_prime_UTR_variant,,ENST00000509914,;APBB3,3_prime_UTR_variant,,ENST00000511896,;APBB3,non_coding_transcript_exon_variant,,ENST00000515056,;APBB3,non_coding_transcript_exon_variant,,ENST00000510241,;SRA1,upstream_gene_variant,,ENST00000602775,;APBB3,downstream_gene_variant,,ENST00000511463,;SRA1,upstream_gene_variant,,ENST00000523259,;APBB3,downstream_gene_variant,,ENST00000511459,;APBB3,downstream_gene_variant,,ENST00000504872,;APBB3,downstream_gene_variant,,ENST00000506165,;APBB3,downstream_gene_variant,,ENST00000503850,;APBB3,downstream_gene_variant,,ENST00000503979,;SRA1,upstream_gene_variant,,ENST00000602875,;APBB3,downstream_gene_variant,,ENST00000506289,;APBB3,downstream_gene_variant,,ENST00000513507,;APBB3,downstream_gene_variant,,ENST00000506958,;	1178	197	204	SUCCESS
APBB3	10307	.	GRCh37	5	139941428	139941428	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs770870465	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	44	159	0	ENST00000357560.4:c.632+1G>T		p.X211_splice	ENST00000357560	NM_133173.2	211		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4227.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACCTGTC	NONE	.	.	.	.	.	ENSP00000346378	.	.	.	.	.	.	.	.	.	.	rs770870465	.	PASS	ENST00000354402	Transcript	.	.	ENSG00000113108	20708	.	.	HIGH	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBB3_HUMAN	APBB3	HGNC	F5H1N5_HUMAN	.	UPI0000414594	SNV	APBB3,splice_donor_variant,,ENST00000357560,;APBB3,splice_donor_variant,,ENST00000354402,;APBB3,splice_donor_variant,,ENST00000358580,;APBB3,5_prime_UTR_variant,,ENST00000508496,;APBB3,intron_variant,,ENST00000356738,;APBB3,intron_variant,,ENST00000511201,;APBB3,intron_variant,,ENST00000412920,;SRA1,upstream_gene_variant,,ENST00000336283,;SLC35A4,upstream_gene_variant,,ENST00000323146,;SLC35A4,upstream_gene_variant,,ENST00000514199,;APBB3,downstream_gene_variant,,ENST00000505617,;APBB3,downstream_gene_variant,,ENST00000507279,;SRA1,upstream_gene_variant,,ENST00000520427,;APBB3,downstream_gene_variant,,ENST00000513766,;SLC35A4,upstream_gene_variant,,ENST00000508770,;APBB3,splice_donor_variant,,ENST00000467078,;APBB3,splice_donor_variant,,ENST00000509914,;APBB3,3_prime_UTR_variant,,ENST00000511896,;APBB3,non_coding_transcript_exon_variant,,ENST00000511463,;APBB3,non_coding_transcript_exon_variant,,ENST00000504872,;APBB3,non_coding_transcript_exon_variant,,ENST00000515056,;APBB3,non_coding_transcript_exon_variant,,ENST00000503979,;APBB3,non_coding_transcript_exon_variant,,ENST00000510241,;APBB3,intron_variant,,ENST00000506289,;SRA1,upstream_gene_variant,,ENST00000602775,;SRA1,upstream_gene_variant,,ENST00000523259,;APBB3,downstream_gene_variant,,ENST00000511459,;SLC35A4,upstream_gene_variant,,ENST00000514137,;APBB3,downstream_gene_variant,,ENST00000506165,;APBB3,downstream_gene_variant,,ENST00000503850,;SRA1,upstream_gene_variant,,ENST00000602875,;APBB3,downstream_gene_variant,,ENST00000513507,;APBB3,downstream_gene_variant,,ENST00000506958,;	.	159	170	SUCCESS
PCDHA1	56147	.	GRCh37	5	140167660	140167660	+	synonymous_variant	Silent	SNP	C	C	T	rs782344839	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	117	0	ENST00000504120.2:c.1785C>T	p.Arg595=	p.R595=	ENST00000504120	NM_018900.2	595	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54913.1	1785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGCGCAGT	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000420840	.	1/4	.	.	.	.	.	.	.	.	rs782344839	1/4	PASS	ENST00000504120	Transcript	.	.	ENSG00000204970	8663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	SNV	PCDHA1,synonymous_variant,p.%3D,ENST00000504120,;PCDHA1,synonymous_variant,p.%3D,ENST00000378133,;PCDHA1,intron_variant,,ENST00000394633,;	1785	117	139	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237443	140237443	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781810921	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	61	154	0	ENST00000307360.5:c.1810G>T	p.Ala604Ser	p.A604S	ENST00000307360	NM_018901.2	604	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS54921.1	1810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACGCGTGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	rs781810921	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious_low_confidence(0.01)	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,missense_variant,p.Ala604Ser,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	1810	154	133	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140347456	140347456	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	63	0	ENST00000289269.5:c.1105G>A	p.Asp369Asn	p.D369N	ENST00000289269	NM_018899.5	369	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS4242.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGGACCTG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	COSM3610295	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.071)	.	deleterious(0)	1	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,missense_variant,p.Asp369Asn,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1637	63	57	SUCCESS
PCDHB14	56122	.	GRCh37	5	140605037	140605037	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	50	0	ENST00000239449.4:c.1960G>A	p.Ala654Thr	p.A654T	ENST00000239449	NM_018934.2	654	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4256.1	1960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGCCACC	BUFFER|p.P651P|c.1953T>G|5	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated_low_confidence(0.19)	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	SNV	PCDHB14,missense_variant,p.Ala654Thr,ENST00000239449,;PCDHB14,missense_variant,p.Ala501Thr,ENST00000515856,;	1960	50	39	SUCCESS
PCDHGA7	56108	.	GRCh37	5	140764204	140764204	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764454496	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	46	97	0	ENST00000518325.1:c.1738C>T	p.Arg580Cys	p.R580C	ENST00000518325	NM_018920.2	580	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS54927.1	1738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCGCTCC	NONE	byFrequency	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,PROSITE_profiles:PS50268	.	.	ENSP00000430024	.	1/4	.	.	.	.	.	.	.	.	rs764454496,COSM402702	1/4	PASS	ENST00000518325	Transcript	.	.	ENSG00000253537	8705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	0,1	PCDG7_HUMAN	PCDHGA7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007146F	SNV	PCDHGA7,missense_variant,p.Arg580Cys,ENST00000518325,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB4,upstream_gene_variant,,ENST00000519479,;	1738	97	121	SUCCESS
PCDHGA9	56107	.	GRCh37	5	140782735	140782735	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	10	179	1	ENST00000573521.1:c.216G>A	p.Thr72=	p.T72=	ENST00000573521	NM_018921.2	72	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS58981.1	216	MUTECT|MUSE	.	AGGACGCAGCT	BUFFER|p.T72M|c.215C>T|3,BUFFER|p.T72M|c.215C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF86,hmmpanther:PTHR24028,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000460274	.	1/4	.	.	.	.	.	.	.	.	COSM3851958,COSM3851957	1/4	PASS	ENST00000573521	Transcript	.	.	ENSG00000261934	8707	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	PCDG9_HUMAN	PCDHGA9	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000721C3	SNV	PCDHGA9,synonymous_variant,p.%3D,ENST00000573521,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	216	180	143	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140857742	140857742	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs1156842877	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	74	0	ENST00000308177.3:c.2066del	p.Asn689IlefsTer10	p.N689Ifs*10	ENST00000308177	NM_002588.2	687	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS4261.1	2059	INDELOCATOR|VARSCANI	.	GAGCAGAAAAAA	BUFFER|p.N689fs*10|c.2059delA|8,BUFFER|p.N689fs*10|c.2059delA|8	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	COSM1180990,COSM1180991	1/4	PASS	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	7	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	deletion	PCDHGC3,frameshift_variant,p.Asn689IlefsTer10,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	2163	74	79	SUCCESS
DIAPH1	1729	.	GRCh37	5	140955840	140955840	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	67	212	0	ENST00000389054.3:c.1418A>C	p.Lys473Thr	p.K473T	ENST00000389054		473	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS43374.1	1418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTTTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17	.	.	ENSP00000381565	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000398557	Transcript	1	.	ENSG00000131504	2876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	DIAP1_HUMAN	DIAPH1	HGNC	Q96IL1_HUMAN,Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E5RJ79_HUMAN,B4DVR3_HUMAN,A0RZB7_HUMAN	.	UPI0000EA87E6	SNV	DIAPH1,missense_variant,p.Lys473Thr,ENST00000253811,;DIAPH1,missense_variant,p.Lys419Thr,ENST00000520569,;DIAPH1,missense_variant,p.Lys464Thr,ENST00000389057,;DIAPH1,missense_variant,p.Lys473Thr,ENST00000398557,;DIAPH1,missense_variant,p.Lys464Thr,ENST00000518047,;DIAPH1,missense_variant,p.Lys464Thr,ENST00000398562,;DIAPH1,missense_variant,p.Lys473Thr,ENST00000389054,;DIAPH1,missense_variant,p.Lys464Thr,ENST00000398566,;DIAPH1,missense_variant,p.Lys464Thr,ENST00000521457,;DIAPH1,downstream_gene_variant,,ENST00000523100,;DIAPH1,downstream_gene_variant,,ENST00000472516,;	1559	212	174	SUCCESS
PCDH12	51294	.	GRCh37	5	141336556	141336556	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	7	117	0	ENST00000231484.3:c.861G>T	p.Met287Ile	p.M287I	ENST00000231484	NM_016580.3	287	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS4269.1	861	MUTECT|MUSE|VARSCANS	.	GGAGGCATGTG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF42,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231484	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000231484	Transcript	.	.	ENSG00000113555	8657	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.19)	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,missense_variant,p.Met287Ile,ENST00000231484,;RNF14,upstream_gene_variant,,ENST00000506822,;RNF14,upstream_gene_variant,,ENST00000511961,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	2072	117	86	SUCCESS
RBM27	54439	.	GRCh37	5	145609290	145609290	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	45	124	0	ENST00000265271.5:c.412del	p.Arg138GlufsTer39	p.R138Efs*39	ENST00000265271	NM_018989.1	136	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS43378.1	406	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTGAGAAAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398	.	.	ENSP00000265271	.	5/21	.	.	.	.	.	.	.	.	COSM1434891	5/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	deletion	RBM27,frameshift_variant,p.Arg138GlufsTer39,ENST00000265271,;RBM27,frameshift_variant,p.Arg138GlufsTer39,ENST00000506502,;	572	124	157	SUCCESS
RBM27	54439	.	GRCh37	5	145631366	145631366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	38	58	1	ENST00000265271.5:c.1372C>T	p.Pro458Ser	p.P458S	ENST00000265271	NM_018989.1	458	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43378.1	1372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGCCACCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398	.	.	ENSP00000265271	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.1)	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,missense_variant,p.Pro458Ser,ENST00000265271,;RBM27,intron_variant,,ENST00000506502,;	1538	59	69	SUCCESS
RBM27	54439	.	GRCh37	5	145634549	145634549	+	synonymous_variant	Silent	SNP	T	T	C	rs1307691621	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	92	0	ENST00000265271.5:c.1488T>C	p.Ile496=	p.I496=	ENST00000265271	NM_018989.1	496	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS43378.1	1488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATTACTAG	NONE	.	.	hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398	.	.	ENSP00000265271	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,synonymous_variant,p.%3D,ENST00000265271,;RBM27,synonymous_variant,p.%3D,ENST00000506502,;	1654	92	99	SUCCESS
C5orf46	389336	.	GRCh37	5	147281302	147281302	+	synonymous_variant	Silent	SNP	G	G	A	rs368375161	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	66	169	0	ENST00000318315.4:c.105C>T	p.Asp35=	p.D35=	ENST00000318315	NM_206966.2	35	gaC/gaT	0	A:0.0005	.	.	.	.	A	D	protein_coding	YES	CCDS34267.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCGTCTGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Pfam_domain:PF15144	.	A:0	ENSP00000315370	.	2/4	.	.	.	.	.	.	.	.	rs368375161	2/4	PASS	ENST00000318315	Transcript	.	.	ENSG00000178776	33768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE046_HUMAN	C5orf46	HGNC	.	.	UPI000020CF20	SNV	C5orf46,synonymous_variant,p.%3D,ENST00000515291,;C5orf46,synonymous_variant,p.%3D,ENST00000318315,;C5orf46,non_coding_transcript_exon_variant,,ENST00000510432,;	106	169	179	SUCCESS
SH3TC2	79628	.	GRCh37	5	148442612	148442612	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	64	183	0	ENST00000515425.1:c.-27C>T		p.*9*	ENST00000515425	NM_024577.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4293.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGCCCTT	NONE	.	.	.	.	.	ENSP00000423660	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,5_prime_UTR_variant,,ENST00000515425,;SH3TC2,5_prime_UTR_variant,,ENST00000512049,;SH3TC2,5_prime_UTR_variant,,ENST00000394358,;CTC-529P8.1,upstream_gene_variant,,ENST00000507373,;MIR584,upstream_gene_variant,,ENST00000384981,;CTC-529P8.1,upstream_gene_variant,,ENST00000515519,;CTC-529P8.1,upstream_gene_variant,,ENST00000507318,;CTC-529P8.1,upstream_gene_variant,,ENST00000512007,;CTC-529P8.1,upstream_gene_variant,,ENST00000515304,;CTC-529P8.1,upstream_gene_variant,,ENST00000509139,;SH3TC2,5_prime_UTR_variant,,ENST00000511307,;SH3TC2,5_prime_UTR_variant,,ENST00000504690,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000511949,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000504091,;SH3TC2,upstream_gene_variant,,ENST00000323829,;SH3TC2,upstream_gene_variant,,ENST00000513604,;	76	183	175	SUCCESS
PDE6A	5145	.	GRCh37	5	149324081	149324081	+	synonymous_variant	Silent	SNP	C	C	T	rs765977242	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	37	118	0	ENST00000255266.5:c.156G>A	p.Pro52=	p.P52=	ENST00000255266	NM_000440.2	52	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4299.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCGGGGA	NONE	.	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347	.	.	ENSP00000255266	.	1/22	.	.	.	.	.	.	.	.	rs765977242	1/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,synonymous_variant,p.%3D,ENST00000255266,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	276	118	106	SUCCESS
HMGXB3	22993	.	GRCh37	5	149421470	149421470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	101	0	ENST00000502717.1:c.2668G>A	p.Ala890Thr	p.A890T	ENST00000502717	NM_014983.2	890	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54935.1	2668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGCCCCC	NONE	.	.	hmmpanther:PTHR17609:SF0,hmmpanther:PTHR17609	.	.	ENSP00000421917	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000502717	Transcript	.	.	ENSG00000113716	28982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.1)	.	HMGX3_HUMAN	HMGXB3	HGNC	Q6P442_HUMAN	.	UPI00001C1E29	SNV	HMGXB3,missense_variant,p.Ala890Thr,ENST00000502717,;HMGXB3,missense_variant,p.Ala858Thr,ENST00000503427,;HMGXB3,3_prime_UTR_variant,,ENST00000514469,;HMGXB3,downstream_gene_variant,,ENST00000513318,;	3132	101	82	SUCCESS
NDST1	3340	.	GRCh37	5	149901211	149901211	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141135213	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	147	0	ENST00000261797.6:c.395G>A	p.Arg132His	p.R132H	ENST00000261797	NM_001543.4	132	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS34277.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGCTTCG	NONE	byCluster	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30,Pfam_domain:PF12062	.	A:0.0001	ENSP00000261797	.	2/15	.	.	.	.	.	.	.	.	rs141135213	2/15	PASS	ENST00000261797	Transcript	1	.	ENSG00000070614	7680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	deleterious(0.02)	.	NDST1_HUMAN	NDST1	HGNC	E5RGN9_HUMAN,E5RG58_HUMAN,E5RG24_HUMAN	.	UPI000012CDA5	SNV	NDST1,missense_variant,p.Arg132His,ENST00000261797,;NDST1,missense_variant,p.Arg132His,ENST00000519157,;NDST1,missense_variant,p.Arg132His,ENST00000523767,;NDST1,downstream_gene_variant,,ENST00000518299,;NDST1,downstream_gene_variant,,ENST00000522491,;NDST1,downstream_gene_variant,,ENST00000518346,;NDST1,downstream_gene_variant,,ENST00000524161,;	897	147	119	SUCCESS
TNIP1	10318	.	GRCh37	5	150410290	150410290	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs199807288	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	50	153	0	ENST00000315050.7:c.1895del	p.Arg632LeufsTer22	p.R632Lfs*22	ENST00000315050	NM_001252391.1	632	cGt/ct	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS34280.1	1895	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTCACGGTCA	NONE	byCluster	.	hmmpanther:PTHR31882:SF3,hmmpanther:PTHR31882	.	.	ENSP00000374029	.	18/18	.	.	.	.	.	.	.	.	rs199807288	18/18	PASS	ENST00000389378	Transcript	.	.	ENSG00000145901	16903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNIP1_HUMAN	TNIP1	HGNC	E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN	.	UPI000000DCDC	deletion	TNIP1,frameshift_variant,p.Arg579LeufsTer22,ENST00000520931,;TNIP1,frameshift_variant,p.Arg632LeufsTer22,ENST00000389378,;TNIP1,frameshift_variant,p.Arg632LeufsTer22,ENST00000521591,;TNIP1,frameshift_variant,p.Arg568LeufsTer?,ENST00000523200,;TNIP1,frameshift_variant,p.Val536Ter,ENST00000524280,;TNIP1,frameshift_variant,p.Arg632LeufsTer22,ENST00000315050,;TNIP1,frameshift_variant,p.Arg632LeufsTer22,ENST00000522226,;TNIP1,intron_variant,,ENST00000517504,;TNIP1,intron_variant,,ENST00000518977,;TNIP1,intron_variant,,ENST00000523338,;GPX3,downstream_gene_variant,,ENST00000517973,;GPX3,downstream_gene_variant,,ENST00000520059,;GPX3,downstream_gene_variant,,ENST00000521632,;GPX3,downstream_gene_variant,,ENST00000388825,;GPX3,downstream_gene_variant,,ENST00000521650,;GPX3,downstream_gene_variant,,ENST00000521722,;TNIP1,downstream_gene_variant,,ENST00000521423,;TNIP1,3_prime_UTR_variant,,ENST00000519339,;TNIP1,non_coding_transcript_exon_variant,,ENST00000522574,;GPX3,downstream_gene_variant,,ENST00000520597,;GPX3,downstream_gene_variant,,ENST00000519214,;TNIP1,downstream_gene_variant,,ENST00000517329,;	2484	153	201	SUCCESS
SLC36A3	285641	.	GRCh37	5	150660598	150660598	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201585244	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	36	120	0	ENST00000335230.3:c.1121G>A	p.Arg374His	p.R374H	ENST00000335230	NM_181774.3	374	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS47316.1	1244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCGGACA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF01490,hmmpanther:PTHR22950:SF203,hmmpanther:PTHR22950,Transmembrane_helices:TMhelix	.	.	ENSP00000366942	.	10/11	.	.	.	.	.	.	.	.	rs201585244	10/11	PASS	ENST00000377713	Transcript	.	.	ENSG00000186334	19659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	S36A3_HUMAN	SLC36A3	HGNC	.	.	UPI00005764D3	SNV	SLC36A3,missense_variant,p.Arg374His,ENST00000335230,;SLC36A3,missense_variant,p.Arg415His,ENST00000377713,;SLC36A3,non_coding_transcript_exon_variant,,ENST00000423071,;	1386	120	116	SUCCESS
SPARC	6678	.	GRCh37	5	151043687	151043687	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs532217814	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	103	0	ENST00000231061.4:c.844G>A	p.Ala282Thr	p.A282T	ENST00000231061	NM_003118.3	282	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4318.1	844	MUTECT|MUSE	.	CAGGGCGATGT	SITE|p.A282T|c.844G>A|3	byFrequency|byCluster	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,Pfam_domain:PF10591,PROSITE_patterns:PS00018,hmmpanther:PTHR13866,hmmpanther:PTHR13866:SF6	.	.	ENSP00000231061	.	9/10	.	.	.	.	.	.	.	.	rs532217814,COSM1227245	9/10	PASS	ENST00000231061	Transcript	.	.	ENSG00000113140	11219	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.98)	.	tolerated(0.54)	0,1	SPRC_HUMAN	SPARC	HGNC	F5H4E2_HUMAN,F5GY03_HUMAN,E5RK62_HUMAN,E5RJA5_HUMAN,D3DQH8_HUMAN	.	UPI0000040638	SNV	SPARC,missense_variant,p.Ala282Thr,ENST00000231061,;SPARC,downstream_gene_variant,,ENST00000521569,;SPARC,downstream_gene_variant,,ENST00000538026,;SPARC,downstream_gene_variant,,ENST00000537849,;SPARC,non_coding_transcript_exon_variant,,ENST00000520687,;SPARC,downstream_gene_variant,,ENST00000524277,;	1158	103	86	SUCCESS
GRIA1	2890	.	GRCh37	5	153030021	153030021	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766140803	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	45	142	0	ENST00000285900.5:c.592C>T	p.Arg198Trp	p.R198W	ENST00000285900	NM_000827.3	198	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS58987.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGGCTG	NONE	byFrequency	.	Superfamily_domains:SSF53822,Pfam_domain:PF01094,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	4/16	.	.	.	.	.	.	.	.	rs766140803,COSM3245253,COSM3245254	4/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.946)	.	deleterious(0)	0,1,1	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Arg118Trp,ENST00000518142,;GRIA1,missense_variant,p.Arg129Trp,ENST00000521843,;GRIA1,missense_variant,p.Arg198Trp,ENST00000285900,;GRIA1,missense_variant,p.Arg208Trp,ENST00000518783,;GRIA1,missense_variant,p.Arg208Trp,ENST00000448073,;GRIA1,missense_variant,p.Arg198Trp,ENST00000340592,;GRIA1,non_coding_transcript_exon_variant,,ENST00000518862,;GRIA1,non_coding_transcript_exon_variant,,ENST00000520966,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	649	142	122	SUCCESS
TIMD4	91937	.	GRCh37	5	156353300	156353300	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	66	0	ENST00000274532.2:c.868C>T	p.Gln290Ter	p.Q290*	ENST00000274532	NM_138379.2	290	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS4332.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGCTCAG	NONE	.	.	hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498	.	.	ENSP00000274532	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000274532	Transcript	.	.	ENSG00000145850	25132	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIMD4_HUMAN	TIMD4	HGNC	B5MCV9_HUMAN	.	UPI000013DA13	SNV	TIMD4,stop_gained,p.Gln290Ter,ENST00000274532,;TIMD4,stop_gained,p.Gln262Ter,ENST00000407087,;TIMD4,5_prime_UTR_variant,,ENST00000406964,;APOOP1,downstream_gene_variant,,ENST00000604695,;	925	66	57	SUCCESS
CYFIP2	26999	.	GRCh37	5	156816337	156816337	+	synonymous_variant	Silent	SNP	C	C	T	rs769817015	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	67	0	ENST00000521420.1:c.3270C>T	p.Gly1090=	p.G1090=	ENST00000521420		1090	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	.	3270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCGTCAT	NONE	.	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994	.	.	ENSP00000430904	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,synonymous_variant,p.%3D,ENST00000521420,;CYFIP2,synonymous_variant,p.%3D,ENST00000377576,;CYFIP2,synonymous_variant,p.%3D,ENST00000541131,;CYFIP2,synonymous_variant,p.%3D,ENST00000318218,;CYFIP2,synonymous_variant,p.%3D,ENST00000435847,;CYFIP2,synonymous_variant,p.%3D,ENST00000347377,;CYFIP2,synonymous_variant,p.%3D,ENST00000522463,;CYFIP2,3_prime_UTR_variant,,ENST00000442283,;CTB-109A12.1,intron_variant,,ENST00000519499,;CTB-47B11.3,upstream_gene_variant,,ENST00000508443,;CTB-47B11.3,upstream_gene_variant,,ENST00000520658,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000522775,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000524058,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000523383,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000522884,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000519663,;	3361	67	73	SUCCESS
FBXL7	23194	.	GRCh37	5	15928504	15928504	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs755812240	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	116	0	ENST00000504595.1:c.636del	p.Glu213AsnfsTer2	p.E213Nfs*2	ENST00000504595	NM_012304.4	211	tgC/tg	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS54833.1	633	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCTGCCCCGA	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	3/4	.	.	.	.	.	.	.	.	rs755812240	3/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	deletion	FBXL7,frameshift_variant,p.Glu201AsnfsTer2,ENST00000329673,;FBXL7,frameshift_variant,p.Glu166AsnfsTer2,ENST00000510662,;FBXL7,frameshift_variant,p.Glu213AsnfsTer2,ENST00000504595,;	1114	116	143	SUCCESS
FBXL7	23194	.	GRCh37	5	15936735	15936735	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1239863082	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	63	0	ENST00000504595.1:c.916C>T	p.Arg306Cys	p.R306C	ENST00000504595	NM_012304.4	306	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS54833.1	916	MUTECT|MUSE	.	ACCTGCGCCGC	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	COSM272143	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Arg294Cys,ENST00000329673,;FBXL7,missense_variant,p.Arg259Cys,ENST00000510662,;FBXL7,missense_variant,p.Arg306Cys,ENST00000504595,;MIR887,downstream_gene_variant,,ENST00000401258,;	1397	63	67	SUCCESS
NUDCD2	134492	.	GRCh37	5	162887001	162887001	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	148	373	0	ENST00000302764.4:c.56G>A	p.Gly19Asp	p.G19D	ENST00000302764	NM_145266.4	19	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS4361.1	56	RADIA|SOMATICSNIPER|VARSCANS	.	ACTGGCCCCAC	NONE	.	.	PROSITE_profiles:PS51203,hmmpanther:PTHR12356,Gene3D:2.60.40.790,Pfam_domain:PF04969,Superfamily_domains:SSF49764	.	.	ENSP00000304854	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000302764	Transcript	.	.	ENSG00000170584	30535	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NUDC2_HUMAN	NUDCD2	HGNC	.	.	UPI0000071965	SNV	NUDCD2,missense_variant,p.Gly19Asp,ENST00000302764,;NUDCD2,missense_variant,p.Gly19Asp,ENST00000517501,;HMMR,upstream_gene_variant,,ENST00000358715,;HMMR,upstream_gene_variant,,ENST00000353866,;HMMR,upstream_gene_variant,,ENST00000393915,;HMMR,upstream_gene_variant,,ENST00000432118,;HMMR,upstream_gene_variant,,ENST00000522094,;HMMR,upstream_gene_variant,,ENST00000520345,;NUDCD2,upstream_gene_variant,,ENST00000519395,;NUDCD2,upstream_gene_variant,,ENST00000521797,;HMMR,upstream_gene_variant,,ENST00000521108,;HMMR,upstream_gene_variant,,ENST00000517936,;	146	373	362	SUCCESS
MYO10	4651	.	GRCh37	5	16818199	16818199	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	74	0	ENST00000513610.1:c.198T>C	p.Asp66=	p.D66=	ENST00000513610	NM_012334.2	66	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS54834.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCATCCAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	3/41	.	.	.	.	.	.	.	.	.	3/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,synonymous_variant,p.%3D,ENST00000513882,;MYO10,synonymous_variant,p.%3D,ENST00000507288,;MYO10,synonymous_variant,p.%3D,ENST00000513610,;MYO10,synonymous_variant,p.%3D,ENST00000502436,;	653	74	61	SUCCESS
DOCK2	1794	.	GRCh37	5	169116263	169116263	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	70	0	ENST00000256935.8:c.769T>C	p.Tyr257His	p.Y257H	ENST00000256935	NM_004946.2	257	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS4371.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTACCTA	BUFFER|p.R260*|c.778C>T|3	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	9/52	.	.	.	.	.	.	.	.	.	9/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.03)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Tyr257His,ENST00000256935,;DOCK2,missense_variant,p.Tyr257His,ENST00000524185,;	849	70	83	SUCCESS
TLX3	30012	.	GRCh37	5	170738422	170738422	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200588592	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	12	161	0	ENST00000296921.5:c.695A>G	p.Glu232Gly	p.E232G	ENST00000296921	NM_021025.2	232	gAg/gGg	0	G:0.0005	G:0	.	G:0.0043	.	G	E/G	protein_coding	YES	CCDS34288.1	695	MUTECT|MUSE	.	GGCGGAGCGGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	G:0	G:0.0008	ENSP00000296921	G:0.001	3/3	.	.	.	.	.	.	.	.	rs200588592	3/3	PASS	ENST00000296921	Transcript	1	G:0.0008	ENSG00000164438	13532	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	G:0	deleterious(0.01)	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,missense_variant,p.Glu232Gly,ENST00000296921,;	777	162	173	SUCCESS
FTH1P10	2502	.	GRCh37	5	17353924	17353924	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	107	0	ENST00000401830.3:n.810C>T		p.*270*	ENST00000401830				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCATGCACTG	NONE	.	95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000511821	Transcript	.	.	ENSG00000248223	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CTD-2139B15.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2139B15.2,upstream_gene_variant,,ENST00000511821,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000401830,;FTH1P10,downstream_gene_variant,,ENST00000430907,;	.	107	119	SUCCESS
FTH1P10	2502	.	GRCh37	5	17354198	17354198	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	6	141	0	ENST00000401830.3:n.536T>C		p.*179*	ENST00000401830				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GACTGATTCAC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000511821	Transcript	.	.	ENSG00000248223	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CTD-2139B15.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2139B15.2,intron_variant,,ENST00000511821,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000401830,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000430907,;	.	141	130	SUCCESS
GPRIN1	114787	.	GRCh37	5	176025680	176025680	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764198142	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	47	125	0	ENST00000303991.4:c.1156C>T	p.Arg386Cys	p.R386C	ENST00000303991	NM_052899.2	386	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4405.1	1156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGCCCCT	NONE	.	.	hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30	.	.	ENSP00000305839	.	2/2	.	.	.	.	.	.	.	.	rs764198142,COSM1208795	2/2	PASS	ENST00000303991	Transcript	.	.	ENSG00000169258	24835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.188)	.	tolerated(0.08)	0,1	GRIN1_HUMAN	GPRIN1	HGNC	.	.	UPI0000246D49	SNV	GPRIN1,missense_variant,p.Arg386Cys,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000261944,;CDHR2,downstream_gene_variant,,ENST00000506348,;CDHR2,downstream_gene_variant,,ENST00000510636,;	1334	125	105	SUCCESS
FGFR4	2264	.	GRCh37	5	176520464	176520464	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558220864	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	86	0	ENST00000292408.4:c.1309C>T	p.Arg437Cys	p.R437C	ENST00000292408	NM_213647.1	437	Cgt/Tgt	0	.	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS4410.1	1309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGCGTCTC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF312,PIRSF_domain:PIRSF000628	T:0	.	ENSP00000292408	T:0	10/18	.	.	.	.	.	.	.	.	rs558220864	10/18	PASS	ENST00000292408	Transcript	.	T:0.0004	ENSG00000160867	3691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	T:0.002	deleterious(0)	.	FGFR4_HUMAN	FGFR4	HGNC	G3JVM2_HUMAN,E7EWF4_HUMAN,D6RJD4_HUMAN,D6RG06_HUMAN,D6R9V0_HUMAN	.	UPI000012A72D	SNV	FGFR4,missense_variant,p.Arg397Cys,ENST00000393637,;FGFR4,missense_variant,p.Arg397Cys,ENST00000292410,;FGFR4,missense_variant,p.Arg437Cys,ENST00000502906,;FGFR4,missense_variant,p.Arg69Cys,ENST00000511076,;FGFR4,missense_variant,p.Arg437Cys,ENST00000292408,;FGFR4,synonymous_variant,p.%3D,ENST00000393648,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,non_coding_transcript_exon_variant,,ENST00000508139,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000513423,;FGFR4,downstream_gene_variant,,ENST00000509511,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000426612,;	1554	86	73	SUCCESS
PFN3	345456	.	GRCh37	5	176827232	176827232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	66	228	0	ENST00000358571.2:c.346G>A	p.Val116Ile	p.V116I	ENST00000358571	NM_001029886.2	116	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS34301.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTACGCCGC	NONE	.	.	hmmpanther:PTHR13936,hmmpanther:PTHR13936:SF2,Gene3D:3.30.450.30,Pfam_domain:PF00235,SMART_domains:SM00392,Superfamily_domains:SSF55770,Prints_domain:PR01639	.	.	ENSP00000351379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358571	Transcript	.	.	ENSG00000196570	18627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	tolerated(0.08)	.	PROF3_HUMAN	PFN3	HGNC	.	.	UPI000019788D	SNV	PFN3,missense_variant,p.Val116Ile,ENST00000358571,;GRK6,upstream_gene_variant,,ENST00000502598,;GRK6,upstream_gene_variant,,ENST00000506296,;SLC34A1,downstream_gene_variant,,ENST00000324417,;F12,downstream_gene_variant,,ENST00000253496,;F12,downstream_gene_variant,,ENST00000514943,;SLC34A1,downstream_gene_variant,,ENST00000513614,;F12,downstream_gene_variant,,ENST00000504406,;F12,downstream_gene_variant,,ENST00000502854,;F12,downstream_gene_variant,,ENST00000503736,;SLC34A1,downstream_gene_variant,,ENST00000507685,;F12,downstream_gene_variant,,ENST00000510358,;	406	228	170	SUCCESS
RP11-1277A3.2	0	.	GRCh37	5	177059248	177059248	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	123	0	ENST00000500444.2:n.130-4633A>G		p.*44*	ENST00000500444				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTTGCTGT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000500444	Transcript	.	.	ENSG00000246596	.	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1277A3.2	Clone_based_vega_gene	.	.	.	SNV	RP11-1277A3.2,non_coding_transcript_exon_variant,,ENST00000515045,;RP11-1277A3.2,upstream_gene_variant,,ENST00000499314,;RP11-1277A3.2,intron_variant,,ENST00000500444,;	.	123	98	SUCCESS
ZNF354B	117608	.	GRCh37	5	178310742	178310742	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	72	223	0	ENST00000322434.3:c.1289T>A	p.Ile430Lys	p.I430K	ENST00000322434	NM_058230.2	430	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS4439.1	1289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAATAATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF87,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000327143	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000322434	Transcript	.	.	ENSG00000178338	17197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.76)	.	Z354B_HUMAN	ZNF354B	HGNC	E5RH89_HUMAN	.	UPI0000071A24	SNV	ZNF354B,missense_variant,p.Ile430Lys,ENST00000322434,;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522624,;ZNF354B,upstream_gene_variant,,ENST00000522714,;	1515	223	197	SUCCESS
ZNF454	285676	.	GRCh37	5	178392816	178392816	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	47	148	0	ENST00000320129.3:c.1414del	p.Ile472SerfsTer12	p.I472Sfs*12	ENST00000320129	NM_182594.2	471	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS4441.1	1411	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATGTAAAATC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF221,PROSITE_profiles:PS50157	.	.	ENSP00000326249	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320129	Transcript	.	.	ENSG00000178187	21200	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN454_HUMAN	ZNF454	HGNC	.	.	UPI00001407C7	deletion	ZNF454,frameshift_variant,p.Ile472SerfsTer12,ENST00000519564,;ZNF454,frameshift_variant,p.Ile472SerfsTer12,ENST00000320129,;RP11-281O15.4,upstream_gene_variant,,ENST00000519491,;	1714	148	172	SUCCESS
MAML1	9794	.	GRCh37	5	179201140	179201140	+	synonymous_variant	Silent	SNP	G	G	A	rs1285397832	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	68	0	ENST00000292599.3:c.2313G>A	p.Pro771=	p.P771=	ENST00000292599	NM_014757.4	771	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34315.1	2313	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCCACA	NONE	.	.	hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF19	.	.	ENSP00000292599	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000292599	Transcript	.	.	ENSG00000161021	13632	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAML1_HUMAN	MAML1	HGNC	.	.	UPI0000071286	SNV	MAML1,synonymous_variant,p.%3D,ENST00000292599,;MAML1,intron_variant,,ENST00000503050,;MAML1,non_coding_transcript_exon_variant,,ENST00000511027,;MAML1,downstream_gene_variant,,ENST00000507385,;	2576	68	45	SUCCESS
BTNL9	153579	.	GRCh37	5	180472566	180472566	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	46	0	ENST00000327705.9:c.77T>C	p.Leu26Pro	p.L26P	ENST00000327705	NM_152547.4	26	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4460.2	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24100:SF50,hmmpanther:PTHR24100	.	.	ENSP00000330200	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000327705	Transcript	.	.	ENSG00000165810	24176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	BTNL9_HUMAN	BTNL9	HGNC	Q8N324_HUMAN	.	UPI000004C620	SNV	BTNL9,missense_variant,p.Leu26Pro,ENST00000376841,;BTNL9,missense_variant,p.Leu26Pro,ENST00000327705,;BTNL9,missense_variant,p.Leu26Pro,ENST00000376842,;BTNL9,intron_variant,,ENST00000515271,;BTNL9,non_coding_transcript_exon_variant,,ENST00000513424,;BTNL9,missense_variant,p.Leu26Pro,ENST00000491209,;	308	46	39	SUCCESS
TRIM41	90933	.	GRCh37	5	180650958	180650959	+	5_prime_UTR_variant	5'UTR	INS	-	-	C	rs768511187	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	32	0	ENST00000315073.5:c.-35dup		p.*12*	ENST00000315073	NM_033549.4			0	C:0.005	.	.	.	.	C	.	protein_coding	YES	CCDS4466.1	.	INDELOCATOR|VARSCANI	.	CCCTCGCCCCC	NONE	.	.	.	.	C:0.0034	ENSP00000320869	.	1/6	.	.	.	.	.	.	.	.	rs768511187	1/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	insertion	TRIM41,5_prime_UTR_variant,,ENST00000351937,;TRIM41,5_prime_UTR_variant,,ENST00000315073,;TRIM41,intron_variant,,ENST00000515499,;MIR4638,upstream_gene_variant,,ENST00000581158,;CTC-338M12.7,downstream_gene_variant,,ENST00000499096,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;TRIM41,upstream_gene_variant,,ENST00000515834,;TRIM41,upstream_gene_variant,,ENST00000515223,;TRIM41,upstream_gene_variant,,ENST00000503114,;	669-670	32	25	SUCCESS
CDH10	1008	.	GRCh37	5	24509863	24509863	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	54	223	0	ENST00000264463.4:c.1068T>A	p.Asp356Glu	p.D356E	ENST00000264463	NM_006727.3	356	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3892.1	1068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGATCTAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000264463	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000264463	Transcript	.	.	ENSG00000040731	1749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	tolerated(0.12)	.	CAD10_HUMAN	CDH10	HGNC	.	.	UPI0000167B7B	SNV	CDH10,missense_variant,p.Asp356Glu,ENST00000264463,;CDH10,missense_variant,p.Asp356Glu,ENST00000510477,;	1576	223	232	SUCCESS
PDZD2	23037	.	GRCh37	5	32088757	32088757	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	149	0	ENST00000438447.1:c.5203G>T	p.Glu1735Ter	p.E1735*	ENST00000438447		1735	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34137.1	5203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGAACAT	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	.	.	ENSP00000402033	.	20/25	.	.	.	.	.	.	.	.	COSM1695540	20/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,stop_gained,p.Glu1735Ter,ENST00000438447,;PDZD2,stop_gained,p.Glu1735Ter,ENST00000282493,;	5591	149	116	SUCCESS
DNAJC21	134218	.	GRCh37	5	34935891	34935891	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753741966	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	114	0	ENST00000342382.4:c.268C>T	p.Arg90Cys	p.R90C	ENST00000342382		90	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3907.2	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTACGCTAT	NONE	byFrequency	.	Superfamily_domains:SSF46565,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF150	.	.	ENSP00000371451	.	3/13	.	.	.	.	.	.	.	.	rs753741966	3/13	PASS	ENST00000382021	Transcript	.	.	ENSG00000168724	27030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.08)	.	DJC21_HUMAN	DNAJC21	HGNC	.	.	UPI000053E489	SNV	DNAJC21,missense_variant,p.Arg90Cys,ENST00000303525,;DNAJC21,missense_variant,p.Arg90Cys,ENST00000342382,;DNAJC21,missense_variant,p.Arg90Cys,ENST00000382021,;DNAJC21,upstream_gene_variant,,ENST00000514237,;	495	114	107	SUCCESS
PLCXD3	345557	.	GRCh37	5	41382215	41382215	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	54	163	0	ENST00000328457.3:c.525del	p.Phe175LeufsTer7	p.F175Lfs*7	ENST00000328457	NM_001005473.2	175	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS34150.1	525	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGCAAAAAT	BUFFER|p.A173A|c.519G>A|6	.	.	hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Gene3D:3.20.20.190,Pfam_domain:PF00388,SMART_domains:SM00148,Superfamily_domains:SSF51695	.	.	ENSP00000367032	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377801	Transcript	.	.	ENSG00000182836	31822	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCX3_HUMAN	PLCXD3	HGNC	B3KXD1_HUMAN	.	UPI0000049DBB	deletion	PLCXD3,frameshift_variant,p.Phe175LeufsTer7,ENST00000328457,;PLCXD3,frameshift_variant,p.Phe175LeufsTer7,ENST00000377801,;	600	163	199	SUCCESS
FBXO4	26272	.	GRCh37	5	41934527	41934527	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	15	0	ENST00000281623.3:c.898+117A>T		p.*300*	ENST00000281623	NM_012176.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3938.1	.	RADIA|MUTECT|MUSE	.	ATGTGATTTTC	NONE	.	.	.	.	.	ENSP00000281623	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281623	Transcript	.	.	ENSG00000151876	13583	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBX4_HUMAN	FBXO4	HGNC	.	.	UPI0000062307	SNV	FBXO4,3_prime_UTR_variant,,ENST00000296812,;FBXO4,intron_variant,,ENST00000509134,;FBXO4,intron_variant,,ENST00000281623,;FBXO4,upstream_gene_variant,,ENST00000505566,;FBXO4,downstream_gene_variant,,ENST00000506496,;FBXO4,downstream_gene_variant,,ENST00000504463,;FBXO4,downstream_gene_variant,,ENST00000513496,;	.	15	11	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5140635	5140635	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	18	0	ENST00000274181.7:c.55G>A	p.Ala19Thr	p.A19T	ENST00000274181	NM_139056.2	19	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43299.1	55	RADIA|MUTECT|MUSE	.	TGTTGGCGCAG	BUFFER|p.L18L|c.52T>C|3	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723	.	.	ENSP00000274181	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	tolerated_low_confidence(0.25)	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,missense_variant,p.Ala19Thr,ENST00000274181,;ADAMTS16,missense_variant,p.Ala19Thr,ENST00000511368,;CTD-2297D10.1,downstream_gene_variant,,ENST00000514848,;CTD-2297D10.2,upstream_gene_variant,,ENST00000512155,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	193	18	19	SUCCESS
CD180	4064	.	GRCh37	5	66479474	66479474	+	synonymous_variant	Silent	SNP	T	T	C	rs201686071	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	122	0	ENST00000256447.4:c.1197A>G	p.Gln399=	p.Q399=	ENST00000256447	NM_005582.2	399	caA/caG	0	C:0.0002	C:0.0008	.	C:0	.	C	Q	protein_coding	YES	CCDS3992.1	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTTTGCAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF231,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	C:0	C:0.0001	ENSP00000256447	C:0	3/3	.	.	.	.	.	.	.	.	rs201686071	3/3	PASS	ENST00000256447	Transcript	.	C:0.0002	ENSG00000134061	6726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	CD180_HUMAN	CD180	HGNC	.	.	UPI000013CF0C	SNV	CD180,synonymous_variant,p.%3D,ENST00000256447,;CTD-2306M10.1,upstream_gene_variant,,ENST00000602471,;CD180,downstream_gene_variant,,ENST00000515027,;	1355	122	109	SUCCESS
UTP15	84135	.	GRCh37	5	72864403	72864403	+	synonymous_variant	Silent	SNP	C	C	T	rs112684902	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	84	0	ENST00000296792.4:c.342C>T	p.Pro114=	p.P114=	ENST00000296792	NM_032175.2	114	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34186.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCTCAG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19924,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000296792	.	4/13	.	.	.	.	.	.	.	.	rs112684902	4/13	PASS	ENST00000296792	Transcript	.	.	ENSG00000164338	25758	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTP15_HUMAN	UTP15	HGNC	D6RF65_HUMAN,B4DU75_HUMAN	.	UPI000020CADC	SNV	UTP15,synonymous_variant,p.%3D,ENST00000509005,;UTP15,synonymous_variant,p.%3D,ENST00000508491,;UTP15,synonymous_variant,p.%3D,ENST00000296792,;UTP15,5_prime_UTR_variant,,ENST00000543251,;ANKRA2,upstream_gene_variant,,ENST00000504641,;ANKRA2,upstream_gene_variant,,ENST00000296785,;UTP15,downstream_gene_variant,,ENST00000513824,;UTP15,downstream_gene_variant,,ENST00000508686,;UTP15,upstream_gene_variant,,ENST00000512550,;ANKRA2,upstream_gene_variant,,ENST00000515804,;UTP15,downstream_gene_variant,,ENST00000510478,;ANKRA2,upstream_gene_variant,,ENST00000509433,;	597	84	95	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73128204	73128204	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	97	0	ENST00000426542.2:c.1066A>G	p.Thr356Ala	p.T356A	ENST00000426542		356	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47231.2	1066	MUTECT|MUSE	.	CCTCGACATTG	NONE	.	.	hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825	.	.	ENSP00000441913	.	10/37	.	.	.	.	.	.	.	.	.	10/37	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.11)	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,missense_variant,p.Thr43Ala,ENST00000296799,;ARHGEF28,missense_variant,p.Thr356Ala,ENST00000287898,;ARHGEF28,missense_variant,p.Thr356Ala,ENST00000545377,;ARHGEF28,missense_variant,p.Thr356Ala,ENST00000296794,;ARHGEF28,missense_variant,p.Thr356Ala,ENST00000437974,;ARHGEF28,missense_variant,p.Thr356Ala,ENST00000513042,;ARHGEF28,missense_variant,p.Thr356Ala,ENST00000426542,;RNU7-196P,upstream_gene_variant,,ENST00000459020,;ARHGEF28,upstream_gene_variant,,ENST00000513841,;	1242	97	89	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73179659	73179659	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1288359486	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	160	0	ENST00000426542.2:c.3005G>A	p.Arg1002His	p.R1002H	ENST00000426542		1002	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47231.2	3005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGTATTA	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825,PROSITE_profiles:PS50010	.	.	ENSP00000441913	.	24/37	.	.	.	.	.	.	.	.	.	24/37	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,missense_variant,p.Arg689His,ENST00000296799,;ARHGEF28,missense_variant,p.Arg1002His,ENST00000287898,;ARHGEF28,missense_variant,p.Arg1002His,ENST00000545377,;ARHGEF28,missense_variant,p.Arg1002His,ENST00000296794,;ARHGEF28,missense_variant,p.Arg1002His,ENST00000437974,;ARHGEF28,missense_variant,p.Arg1002His,ENST00000513042,;ARHGEF28,missense_variant,p.Arg1002His,ENST00000426542,;ARHGEF28,upstream_gene_variant,,ENST00000512883,;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000510312,;ARHGEF28,upstream_gene_variant,,ENST00000504003,;	3181	160	132	SUCCESS
HMGCR	3156	.	GRCh37	5	74650434	74650434	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	54	143	0	ENST00000287936.4:c.1475T>C	p.Val492Ala	p.V492A	ENST00000287936	NM_000859.2	492	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4027.1	1475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTATCTA	NONE	.	.	PROSITE_profiles:PS50065,hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,Gene3D:1.10.3270.10,TIGRFAM_domain:TIGR00920,Pfam_domain:PF00368,TIGRFAM_domain:TIGR00533,Superfamily_domains:SSF56542	.	.	ENSP00000287936	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000287936	Transcript	1	.	ENSG00000113161	5006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	deleterious(0.02)	.	HMDH_HUMAN	HMGCR	HGNC	D6RIW0_HUMAN,C9JKX7_HUMAN	.	UPI000012C9E2	SNV	HMGCR,missense_variant,p.Val492Ala,ENST00000343975,;HMGCR,missense_variant,p.Val492Ala,ENST00000287936,;HMGCR,missense_variant,p.Val492Ala,ENST00000511206,;HMGCR,upstream_gene_variant,,ENST00000511986,;HMGCR,upstream_gene_variant,,ENST00000509085,;HMGCR,non_coding_transcript_exon_variant,,ENST00000515776,;HMGCR,upstream_gene_variant,,ENST00000508070,;HMGCR,upstream_gene_variant,,ENST00000514315,;HMGCR,downstream_gene_variant,,ENST00000504466,;	1631	143	117	SUCCESS
AGGF1	55109	.	GRCh37	5	76342271	76342271	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1561287698	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	251	13	269	0	ENST00000312916.7:c.970A>G	p.Ile324Val	p.I324V	ENST00000312916	NM_018046.4	324	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4035.1	970	MUTECT|MUSE	.	TAGGCATTCAT	NONE	.	.	hmmpanther:PTHR23106	.	.	ENSP00000316109	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000312916	Transcript	1	.	ENSG00000164252	24684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.41)	.	AGGF1_HUMAN	AGGF1	HGNC	A8K029_HUMAN	.	UPI0000231C8D	SNV	AGGF1,missense_variant,p.Ile324Val,ENST00000312916,;	1352	269	264	SUCCESS
ADCY2	108	.	GRCh37	5	7706967	7706967	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	122	0	ENST00000338316.4:c.1220C>A	p.Ser407Ter	p.S407*	ENST00000338316	NM_020546.2	407	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS3872.2	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTCACATG	NONE	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,PROSITE_patterns:PS00452,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,PROSITE_profiles:PS50125	.	.	ENSP00000342952	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,stop_gained,p.Ser407Ter,ENST00000338316,;ADCY2,stop_gained,p.Ser227Ter,ENST00000537121,;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	1309	122	128	SUCCESS
TBCA	6902	.	GRCh37	5	77072145	77072145	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	65	137	0	ENST00000380377.4:c.-64T>C		p.*22*	ENST00000380377	NM_004607.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCAGAGGC	NONE	.	.	.	.	.	ENSP00000369736	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000380377	Transcript	.	.	ENSG00000171530	11579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCA_HUMAN	TBCA	HGNC	Q6FGD7_HUMAN,E5RIW3_HUMAN	.	UPI000014A589	SNV	TBCA,5_prime_UTR_variant,,ENST00000380377,;TBCA,intron_variant,,ENST00000522370,;TBCA,upstream_gene_variant,,ENST00000518338,;TBCA,upstream_gene_variant,,ENST00000520039,;TBCA,upstream_gene_variant,,ENST00000306388,;TBCA,upstream_gene_variant,,ENST00000520361,;	41	137	168	SUCCESS
AP3B1	8546	.	GRCh37	5	77423904	77423904	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	100	0	ENST00000255194.6:c.1918C>T	p.Pro640Ser	p.P640S	ENST00000255194		640	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS4041.1	1918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGCCAAT	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096	.	.	ENSP00000255194	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000255194	Transcript	1	.	ENSG00000132842	566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0)	.	AP3B1_HUMAN	AP3B1	HGNC	E5RJ68_HUMAN	.	UPI00001AE77D	SNV	AP3B1,missense_variant,p.Pro640Ser,ENST00000255194,;AP3B1,missense_variant,p.Pro591Ser,ENST00000519295,;AP3B1,non_coding_transcript_exon_variant,,ENST00000517561,;	2094	100	105	SUCCESS
FASTKD3	79072	.	GRCh37	5	7867406	7867406	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756188535	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	55	0	ENST00000264669.5:c.791A>G	p.Gln264Arg	p.Q264R	ENST00000264669	NM_024091.3	264	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3873.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCTGCAAG	NONE	byFrequency	.	hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF9	.	.	ENSP00000264669	.	2/7	.	.	.	.	.	.	.	.	rs756188535	2/7	PASS	ENST00000264669	Transcript	.	.	ENSG00000124279	28758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	FAKD3_HUMAN	FASTKD3	HGNC	D6RHY4_HUMAN,D6RC07_HUMAN	.	UPI000020BF43	SNV	FASTKD3,missense_variant,p.Gln264Arg,ENST00000264669,;MTRR,upstream_gene_variant,,ENST00000514220,;MTRR,upstream_gene_variant,,ENST00000440940,;MTRR,upstream_gene_variant,,ENST00000341013,;FASTKD3,downstream_gene_variant,,ENST00000504695,;MTRR,upstream_gene_variant,,ENST00000502550,;FASTKD3,downstream_gene_variant,,ENST00000507572,;MTRR,upstream_gene_variant,,ENST00000506877,;MTRR,upstream_gene_variant,,ENST00000512217,;MTRR,upstream_gene_variant,,ENST00000264668,;FASTKD3,intron_variant,,ENST00000513658,;FASTKD3,intron_variant,,ENST00000282110,;MTRR,intron_variant,,ENST00000502509,;FASTKD3,missense_variant,p.Gln264Arg,ENST00000507036,;FASTKD3,3_prime_UTR_variant,,ENST00000511261,;MTRR,upstream_gene_variant,,ENST00000514369,;MTRR,upstream_gene_variant,,ENST00000510525,;MTRR,upstream_gene_variant,,ENST00000503550,;MTRR,upstream_gene_variant,,ENST00000508047,;MTRR,upstream_gene_variant,,ENST00000510279,;MTRR,upstream_gene_variant,,ENST00000513439,;FASTKD3,upstream_gene_variant,,ENST00000513577,;MTRR,upstream_gene_variant,,ENST00000511461,;	928	55	62	SUCCESS
CMYA5	202333	.	GRCh37	5	79033682	79033682	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1379444360	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	242	171	448	0	ENST00000446378.2:c.9094T>A	p.Ser3032Thr	p.S3032T	ENST00000446378	NM_153610.3	3032	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS47238.1	9094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATCCACA	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,missense_variant,p.Ser3032Thr,ENST00000446378,;CMYA5,upstream_gene_variant,,ENST00000506603,;	9125	448	413	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79734315	79734315	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	191	400	0	ENST00000338008.5:c.1811C>T	p.Thr604Ile	p.T604I	ENST00000338008	NM_014733.3	604	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS4050.1	1811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACAATAG	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43,PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.21)	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,missense_variant,p.Thr604Ile,ENST00000338008,;ZFYVE16,missense_variant,p.Thr604Ile,ENST00000505560,;ZFYVE16,missense_variant,p.Thr604Ile,ENST00000510158,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,upstream_gene_variant,,ENST00000511829,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000509558,;	1991	400	429	SUCCESS
ATP6AP1L	92270	.	GRCh37	5	81608577	81608577	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	5	197	0	ENST00000380167.4:c.279C>T	p.Arg93=	p.R93=	ENST00000380167		93	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34196.1	279	MUTECT|MUSE	.	CAACGCGTGGG	NONE	.	.	hmmpanther:PTHR12471:SF3,hmmpanther:PTHR12471	.	.	ENSP00000369513	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000380167	Transcript	.	.	ENSG00000205464	28091	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VAS1L_HUMAN	ATP6AP1L	HGNC	.	.	UPI000015F4B3	SNV	ATP6AP1L,synonymous_variant,p.%3D,ENST00000380167,;ATP6AP1L,synonymous_variant,p.%3D,ENST00000439350,;ATP6AP1L,non_coding_transcript_exon_variant,,ENST00000508366,;ATP6AP1L,non_coding_transcript_exon_variant,,ENST00000514672,;	1604	197	142	SUCCESS
VCAN	1462	.	GRCh37	5	82836430	82836430	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	53	153	0	ENST00000265077.3:c.7614del	p.Lys2538AsnfsTer8	p.K2538Nfs*8	ENST00000265077	NM_004385.4	2536	agA/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS4060.1	7608	INDELOCATOR*|VARSCANI*|PINDEL	.	TAACAGAAAAAA	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	deletion	VCAN,frameshift_variant,p.Lys2538AsnfsTer8,ENST00000265077,;VCAN,frameshift_variant,p.Lys1551AsnfsTer8,ENST00000343200,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	8173	153	176	SUCCESS
TMEM161B	153396	.	GRCh37	5	87494886	87494886	+	synonymous_variant	Silent	SNP	A	A	G	rs143002306	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	8	180	0	ENST00000296595.6:c.996T>C	p.Ser332=	p.S332=	ENST00000296595	NM_153354.3	332	agT/agC	0	G:0.0016	.	.	.	.	G	S	protein_coding	YES	CCDS4065.1	996	MUTECT|MUSE	.	AGGTGACTACG	NONE	byFrequency|byCluster	.	Pfam_domain:PF10268,hmmpanther:PTHR13624:SF3,hmmpanther:PTHR13624	.	G:0	ENSP00000296595	.	10/12	.	.	.	.	.	.	.	.	rs143002306	10/12	PASS	ENST00000296595	Transcript	.	.	ENSG00000164180	28483	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T161B_HUMAN	TMEM161B	HGNC	D6RBE8_HUMAN,B7Z6T3_HUMAN	.	UPI000007229D	SNV	TMEM161B,synonymous_variant,p.%3D,ENST00000296595,;TMEM161B,synonymous_variant,p.%3D,ENST00000514135,;TMEM161B,synonymous_variant,p.%3D,ENST00000506536,;TMEM161B,synonymous_variant,p.%3D,ENST00000511218,;TMEM161B,synonymous_variant,p.%3D,ENST00000512429,;TMEM161B,downstream_gene_variant,,ENST00000509387,;TMEM161B,upstream_gene_variant,,ENST00000515293,;TMEM161B,3_prime_UTR_variant,,ENST00000511087,;TMEM161B,3_prime_UTR_variant,,ENST00000510089,;TMEM161B,downstream_gene_variant,,ENST00000507872,;	1121	180	192	SUCCESS
NR2F1	7025	.	GRCh37	5	92923770	92923770	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	77	174	0	ENST00000327111.3:c.611G>A	p.Gly204Asp	p.G204D	ENST00000327111	NM_005654.4	204	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4068.1	611	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACGGCAGCC	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF46,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000325819	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000327111	Transcript	1	.	ENSG00000175745	7975	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.833)	.	deleterious(0.01)	.	COT1_HUMAN	NR2F1	HGNC	.	.	UPI0000000C58	SNV	NR2F1,missense_variant,p.Gly204Asp,ENST00000327111,;NR2F1-AS1,upstream_gene_variant,,ENST00000513055,;NR2F1,non_coding_transcript_exon_variant,,ENST00000512697,;NR2F1,non_coding_transcript_exon_variant,,ENST00000502982,;NR2F1,upstream_gene_variant,,ENST00000506162,;	2298	174	188	SUCCESS
BEND3	57673	.	GRCh37	6	107391602	107391602	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782080430	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	78	0	ENST00000369042.1:c.793del	p.Asp265ThrfsTer54	p.D265Tfs*54	ENST00000369042		265	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS34507.1	793	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGTCCCCCC	NONE	.	.	SMART_domains:SM01025,Pfam_domain:PF10523,PROSITE_profiles:PS51457	.	.	ENSP00000411268	.	5/5	.	.	.	.	.	.	.	.	rs782080430,COSM1439545	5/5	PASS	ENST00000429433	Transcript	.	.	ENSG00000178409	23040	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	deletion	BEND3,frameshift_variant,p.Asp265ThrfsTer54,ENST00000429433,;BEND3,frameshift_variant,p.Asp265ThrfsTer54,ENST00000369042,;	1443	78	38	SUCCESS
MAK	4117	.	GRCh37	6	10764807	10764808	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs1561922707	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	116	25	95	0	ENST00000313243.2:c.1749dup	p.Gln584AlafsTer8	p.Q584Afs*8	ENST00000313243		583	-/G	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS4516.1	1749-1750	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACTGCCCCC	NONE	.	.	.	.	.	ENSP00000313021	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000313243	Transcript	.	.	ENSG00000111837	6816	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAK_HUMAN	MAK	HGNC	.	.	UPI0000001BCD	insertion	MAK,frameshift_variant,p.Gln584AlafsTer8,ENST00000354489,;MAK,frameshift_variant,p.Gln584AlafsTer8,ENST00000474039,;MAK,frameshift_variant,p.Gln584AlafsTer8,ENST00000313243,;MAK,3_prime_UTR_variant,,ENST00000538030,;SYCP2L,intron_variant,,ENST00000543878,;TMEM14B,downstream_gene_variant,,ENST00000467317,;TMEM14B,downstream_gene_variant,,ENST00000481240,;TMEM14B,intron_variant,,ENST00000478732,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,intron_variant,,ENST00000473807,;TMEM14B,intron_variant,,ENST00000463448,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000463100,;	2132-2133	95	141	SUCCESS
SMPDL3A	10924	.	GRCh37	6	123127438	123127438	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	75	157	0	ENST00000368440.4:c.984del	p.Lys328AsnfsTer28	p.K328Nfs*28	ENST00000368440	NM_006714.3	327	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS5128.1	980	VARSCANI*|PINDEL	.	TTTTAGAAAAAC	NONE	.	.	hmmpanther:PTHR10340:SF24,hmmpanther:PTHR10340,Gene3D:3.60.21.10,PIRSF_domain:PIRSF036767,Superfamily_domains:SSF56300	.	.	ENSP00000357425	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000368440	Transcript	.	.	ENSG00000172594	17389	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASM3A_HUMAN	SMPDL3A	HGNC	B7Z729_HUMAN	.	UPI00000701D1	deletion	SMPDL3A,frameshift_variant,p.Lys197AsnfsTer28,ENST00000539041,;SMPDL3A,frameshift_variant,p.Lys328AsnfsTer28,ENST00000368440,;	1157	157	175	SUCCESS
PHACTR1	221692	.	GRCh37	6	13273361	13273361	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	11	0	ENST00000332995.7:c.1447+214G>A		p.*483*	ENST00000332995				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4523.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACGGGCGG	NONE	.	.	.	.	.	ENSP00000475727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000606214	Transcript	.	.	ENSG00000145979	21066	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCD7_HUMAN	TBC1D7	HGNC	U3KQ23_HUMAN,Q5SZM2_HUMAN,Q5SZM1_HUMAN,Q5SZL8_HUMAN,Q5SZL4_HUMAN	.	UPI0000073B32	SNV	PHACTR1,3_prime_UTR_variant,,ENST00000379350,;PHACTR1,intron_variant,,ENST00000379329,;PHACTR1,intron_variant,,ENST00000415087,;PHACTR1,intron_variant,,ENST00000379335,;PHACTR1,intron_variant,,ENST00000332995,;TBC1D7,intron_variant,,ENST00000606214,;PHACTR1,intron_variant,,ENST00000457702,;RP1-257A7.4,intron_variant,,ENST00000606627,;RP1-257A7.4,downstream_gene_variant,,ENST00000399446,;PHACTR1,intron_variant,,ENST00000489548,;PHACTR1,upstream_gene_variant,,ENST00000481706,;TBC1D7,downstream_gene_variant,,ENST00000421203,;	.	11	15	SUCCESS
TAAR9	134860	.	GRCh37	6	132859536	132859536	+	synonymous_variant	Silent	SNP	C	C	T	rs1554255087	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	159	0	ENST00000434551.1:c.108C>T	p.Tyr36=	p.Y36=	ENST00000434551	NM_175057.3	36	taC/taT	0	.	.	.	.	.	T	Y	polymorphic_pseudogene	YES	.	108	MUTECT|MUSE	.	CTCTACGCCGT	NONE	.	.	.	.	.	ENSP00000424607	.	1/1	.	.	.	.	.	.	.	.	COSM204231	1/1	PASS	ENST00000434551	Transcript	.	.	ENSG00000237110	20977	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	TAAR9	HGNC	.	.	.	SNV	TAAR9,synonymous_variant,p.%3D,ENST00000434551,;	108	159	91	SUCCESS
KIAA1244	0	.	GRCh37	6	138576784	138576784	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370057378	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	96	0	ENST00000251691.4:c.982G>A	p.Glu328Lys	p.E328K	ENST00000251691	NM_020340.4	328	Gag/Aag	0	A:0	.	.	.	.	A	E/K	protein_coding	YES	CCDS5189.2	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGAGCTG	NONE	byCluster	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	A:0.0001	ENSP00000251691	.	10/34	.	.	.	.	.	.	.	.	rs370057378,COSM1073808,COSM1595930	10/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.249)	.	deleterious(0)	0,1,1	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Glu328Lys,ENST00000251691,;	1148	96	49	SUCCESS
KIAA1244	0	.	GRCh37	6	138584499	138584499	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376236619	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	113	0	ENST00000251691.4:c.1879G>A	p.Val627Met	p.V627M	ENST00000251691	NM_020340.4	627	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS5189.2	1879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACGTGTCA	NONE	byFrequency|byCluster	.	SMART_domains:SM00222,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	A:0.0001	ENSP00000251691	.	12/34	.	.	.	.	.	.	.	.	rs376236619	12/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious_low_confidence(0.01)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Val627Met,ENST00000251691,;	2045	114	78	SUCCESS
ESR1	2099	.	GRCh37	6	152332874	152332874	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755020320	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	107	0	ENST00000206249.3:c.1180C>T	p.Arg394Cys	p.R394C	ENST00000206249	NM_000125.3	394	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS5234.1	1180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCGCTCC	NONE	.	.	hmmpanther:PTHR24084:SF3,hmmpanther:PTHR24084,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,PIRSF_domain:PIRSF500101,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508	.	.	ENSP00000405330	.	7/10	.	.	.	.	.	.	.	.	rs755020320	7/10	PASS	ENST00000440973	Transcript	.	.	ENSG00000091831	3467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ESR1_HUMAN	ESR1	HGNC	Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN	.	UPI000004A328	SNV	ESR1,missense_variant,p.Arg394Cys,ENST00000440973,;ESR1,missense_variant,p.Arg221Cys,ENST00000427531,;ESR1,missense_variant,p.Arg394Cys,ENST00000338799,;ESR1,missense_variant,p.Arg394Cys,ENST00000443427,;ESR1,missense_variant,p.Arg282Cys,ENST00000456483,;ESR1,missense_variant,p.Arg394Cys,ENST00000206249,;ESR1,missense_variant,p.Arg67Cys,ENST00000415488,;ESR1,intron_variant,,ENST00000406599,;	1550	107	63	SUCCESS
TFB1M	51106	.	GRCh37	6	155578991	155578991	+	synonymous_variant	Silent	SNP	G	G	A	rs1212387484	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	69	0	ENST00000367166.4:c.1020C>T	p.Asp340=	p.D340=	ENST00000367166	NM_016020.3	340	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS5248.1	1020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGTCATC	NONE	.	.	.	.	.	ENSP00000356134	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367166	Transcript	.	.	ENSG00000029639	17037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFB1M_HUMAN	TFB1M	HGNC	E5KTM5_HUMAN	.	UPI000003B01A	SNV	TFB1M,synonymous_variant,p.%3D,ENST00000367166,;TIAM2,downstream_gene_variant,,ENST00000528391,;TIAM2,downstream_gene_variant,,ENST00000456144,;TIAM2,downstream_gene_variant,,ENST00000367174,;TIAM2,downstream_gene_variant,,ENST00000360366,;TIAM2,downstream_gene_variant,,ENST00000461783,;TIAM2,downstream_gene_variant,,ENST00000318981,;TIAM2,downstream_gene_variant,,ENST00000275246,;TIAM2,downstream_gene_variant,,ENST00000529824,;TIAM2,downstream_gene_variant,,ENST00000456877,;RP11-477D19.2,upstream_gene_variant,,ENST00000435295,;TFB1M,non_coding_transcript_exon_variant,,ENST00000470239,;TFB1M,non_coding_transcript_exon_variant,,ENST00000468889,;TFB1M,downstream_gene_variant,,ENST00000489874,;TFB1M,downstream_gene_variant,,ENST00000495806,;TIAM2,downstream_gene_variant,,ENST00000537845,;	1076	69	50	SUCCESS
ATXN1	6310	.	GRCh37	6	16327684	16327684	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs774055637	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	51	153	0	ENST00000244769.4:c.858del	p.Ser287ProfsTer38	p.S287Pfs*38	ENST00000244769	NM_000332.3	286	ccC/cc	0	.	A:0	.	A:0	.	-	P/X	protein_coding	YES	CCDS34342.1	858	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGAGGGGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13392:SF5,hmmpanther:PTHR13392	A:0.002	.	ENSP00000244769	A:0	8/9	.	.	.	.	.	.	.	.	rs202200269,rs774055637,COSM1442124	8/9	PASS	ENST00000244769	Transcript	.	A:0.0004	ENSG00000124788	10548	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	A:0	.	0,0,1	ATX1_HUMAN	ATXN1	HGNC	.	.	UPI000013CB8B	deletion	ATXN1,frameshift_variant,p.Ser287ProfsTer38,ENST00000244769,;ATXN1,frameshift_variant,p.Ser287ProfsTer38,ENST00000436367,;	1795	153	228	SUCCESS
TTLL2	83887	.	GRCh37	6	167754936	167754936	+	synonymous_variant	Silent	SNP	G	G	A	rs773254686	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	38	130	0	ENST00000239587.5:c.1548G>A	p.Thr516=	p.T516=	ENST00000239587	NM_031949.4	516	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5301.1	1548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACGCCTCA	NONE	byFrequency	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90	.	.	ENSP00000239587	.	3/3	.	.	.	.	.	.	.	.	rs773254686	3/3	PASS	ENST00000239587	Transcript	.	.	ENSG00000120440	21211	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL2_HUMAN	TTLL2	HGNC	.	.	UPI00001A3A8B	SNV	TTLL2,synonymous_variant,p.%3D,ENST00000239587,;TTLL2,synonymous_variant,p.%3D,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	1636	130	58	SUCCESS
PHF10	55274	.	GRCh37	6	170123958	170123959	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	17	0	ENST00000339209.4:c.69dup	p.Gly24ArgfsTer8	p.G24Rfs*8	ENST00000339209	NM_133325.2	23	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS5308.2	69-70	INDELOCATOR|VARSCANI	.	CGCTCCGGGGG	NONE	.	.	hmmpanther:PTHR10615	.	.	ENSP00000341805	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000339209	Transcript	.	.	ENSG00000130024	18250	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHF10_HUMAN	PHF10	HGNC	S5FMB0_HUMAN	.	UPI0000EE1F6E	insertion	PHF10,frameshift_variant,p.Gly24ArgfsTer8,ENST00000366780,;PHF10,frameshift_variant,p.Gly24ArgfsTer8,ENST00000339209,;RP1-266L20.4,upstream_gene_variant,,ENST00000430250,;RP1-266L20.2,downstream_gene_variant,,ENST00000413088,;PHF10,upstream_gene_variant,,ENST00000464779,;PHF10,non_coding_transcript_exon_variant,,ENST00000480008,;	193-194	17	23	SUCCESS
MBOAT1	154141	.	GRCh37	6	20152967	20152967	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	23	178	0	ENST00000324607.7:c.133T>C	p.Phe45Leu	p.F45L	ENST00000324607	NM_001080480.2	45	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS34346.1	133	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAACAGAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906	.	.	ENSP00000324944	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000324607	Transcript	.	.	ENSG00000172197	21579	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	MBOA1_HUMAN	MBOAT1	HGNC	.	.	UPI000020D5D0	SNV	MBOAT1,missense_variant,p.Phe45Leu,ENST00000536798,;MBOAT1,missense_variant,p.Phe45Leu,ENST00000324607,;MBOAT1,5_prime_UTR_variant,,ENST00000541730,;	298	178	180	SUCCESS
HDGFL1	154150	.	GRCh37	6	22570437	22570437	+	synonymous_variant	Silent	SNP	C	C	T	rs371376684	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	51	0	ENST00000510882.2:c.633C>T	p.Gly211=	p.G211=	ENST00000510882		211	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34347.1	633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCCTGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF19	.	.	ENSP00000442129	.	1/2	.	.	.	.	.	.	.	.	rs371376684	1/2	PASS	ENST00000510882	Transcript	.	.	ENSG00000112273	21095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDGL1_HUMAN	HDGFL1	HGNC	.	.	UPI0000039B1A	SNV	HDGFL1,synonymous_variant,p.%3D,ENST00000510882,;HDGFL1,synonymous_variant,p.%3D,ENST00000230012,;	643	51	69	SUCCESS
LRRC16A	0	.	GRCh37	6	25538179	25538179	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs910881562	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	45	0	ENST00000329474.6:c.2164C>T	p.Arg722Trp	p.R722W	ENST00000329474	NM_001173977.1	722	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54973.1	2164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCGGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39	.	.	ENSP00000331983	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000329474	Transcript	.	.	ENSG00000079691	21581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	deleterious(0)	.	LR16A_HUMAN	LRRC16A	HGNC	.	.	UPI00004588AB	SNV	LRRC16A,missense_variant,p.Arg722Trp,ENST00000329474,;	2532	45	51	SUCCESS
HIST1H1A	0	.	GRCh37	6	26018017	26018017	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	rs541398653	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	19	138	0	ENST00000244573.3:c.-57del		p.*19*	ENST00000244573	NM_005325.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4569.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GATGCGAAAAAA	NONE	.	.	.	.	.	ENSP00000244573	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244573	Transcript	.	.	ENSG00000124610	4715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H11_HUMAN	HIST1H1A	HGNC	.	.	UPI0000001BD8	deletion	HIST1H1A,5_prime_UTR_variant,,ENST00000244573,;HIST1H4A,upstream_gene_variant,,ENST00000359907,;HIST1H3A,upstream_gene_variant,,ENST00000357647,;U91328.22,downstream_gene_variant,,ENST00000608919,;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;	24	138	152	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056197	26056197	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs548795634	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	38	111	0	ENST00000343677.2:c.460A>G	p.Thr154Ala	p.T154A	ENST00000343677	NM_005319.3	154	Aca/Gca	0	.	C:0	.	C:0	.	C	T/A	protein_coding	YES	CCDS4577.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGTTTTCT	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467	C:0.001	.	ENSP00000339566	C:0	1/1	.	.	.	.	.	.	.	.	rs548795634	1/1	PASS	ENST00000343677	Transcript	.	C:0.0002	ENSG00000187837	4716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0	deleterious(0.01)	.	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,missense_variant,p.Thr154Ala,ENST00000343677,;	503	111	137	SUCCESS
ABT1	29777	.	GRCh37	6	26598247	26598247	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782604281	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	257	107	314	0	ENST00000274849.1:c.347G>A	p.Arg116His	p.R116H	ENST00000274849	NM_013375.3	116	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4616.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGCATAG	NONE	.	.	hmmpanther:PTHR12311,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000274849	.	2/3	.	.	.	.	.	.	.	.	rs782604281	2/3	PASS	ENST00000274849	Transcript	.	.	ENSG00000146109	17369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	ABT1_HUMAN	ABT1	HGNC	.	.	UPI0000062314	SNV	ABT1,missense_variant,p.Arg116His,ENST00000274849,;	378	314	364	SUCCESS
HIST1H4J	0	.	GRCh37	6	27792061	27792061	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746632790	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	43	146	0	ENST00000355057.1:c.159G>T	p.Glu53Asp	p.E53D	ENST00000355057	NM_021968.3	53	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS4630.1	159	RADIA|VARSCANS	.	TACGAGGAGAC	NONE	byFrequency	.	hmmpanther:PTHR10484,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00417,SMART_domains:SM00803,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000347168	.	1/1	.	.	.	.	.	.	.	.	rs746632790	1/1	PASS	ENST00000355057	Transcript	.	.	ENSG00000197238	4785	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.14)	.	H4_HUMAN	HIST1H4J	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4J,missense_variant,p.Glu53Asp,ENST00000355057,;	178	146	163	SUCCESS
OR12D2	26529	.	GRCh37	6	29365183	29365183	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	113	0	ENST00000383555.2:c.707C>T	p.Ala236Val	p.A236V	ENST00000383555	NM_013936.3	236	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4659.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGCACTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF52,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000373047	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383555	Transcript	.	.	ENSG00000168787	8178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	tolerated(0.05)	.	O12D2_HUMAN	OR12D2	HGNC	.	.	UPI00001406A8	SNV	OR12D2,missense_variant,p.Ala236Val,ENST00000383555,;OR5V1,intron_variant,,ENST00000377154,;	768	113	133	SUCCESS
HLA-G	3135	.	GRCh37	6	29797328	29797328	+	synonymous_variant	Silent	SNP	C	C	T	rs752250461	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	51	122	0	ENST00000360323.6:c.753C>T	p.Asp251=	p.D251=	ENST00000360323		251	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS4668.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGTGGA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF149,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000412927	.	5/8	.	.	.	.	.	.	.	.	rs752250461	5/8	PASS	ENST00000428701	Transcript	.	.	ENSG00000204632	4964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HLAG_HUMAN	HLA-G	HGNC	Q6DU14_HUMAN,M9TK49_HUMAN,Q9UM45_HUMAN,Q9TP14_HUMAN,Q9TP13_HUMAN,Q9TP12_HUMAN,Q9TP11_HUMAN,Q9TP10_HUMAN,Q95356_HUMAN,Q7JFN0_HUMAN,Q6DL89_HUMAN,Q6DL88_HUMAN,Q6DL87_HUMAN,Q6DL86_HUMAN,Q6DL85_HUMAN,Q6B9Y6_HUMAN,Q6B9Y4_HUMAN,Q6B9Y3_HUMAN,Q6B9Y2_HUMAN,Q6B9Y1_HUMAN,Q6B845_HUMAN,Q68YS4_HUMAN,Q68YS3_HUMAN,Q68YS2_HUMAN,Q68YS1_HUMAN,Q68YS0_HUMAN,Q68YR9_HUMAN,Q68YR8_HUMAN,Q30182_HUMAN,O78136_HUMAN,O78135_HUMAN,O78134_HUMAN,O78133_HUMAN,O78131_HUMAN,O19809_HUMAN,O19807_HUMAN,O19806_HUMAN,O19805_HUMAN,O19768_HUMAN,O19767_HUMAN,O19766_HUMAN,O19745_HUMAN,O19684_HUMAN,O19659_HUMAN,O19658_HUMAN,O02928_HUMAN,O02927_HUMAN,O02926_HUMAN,O02923_HUMAN,J3JRT1_HUMAN,C7SJ32_HUMAN,C0JTC7_HUMAN,C0JT30_HUMAN,C0JT28_HUMAN,C0JSV3_HUMAN,C0JSV2_HUMAN,B5LFX9_HUMAN,B1P198_HUMAN,A5HSK0_HUMAN	.	UPI000000166E	SNV	HLA-G,synonymous_variant,p.%3D,ENST00000376828,;HLA-G,synonymous_variant,p.%3D,ENST00000360323,;HLA-G,synonymous_variant,p.%3D,ENST00000428701,;HLA-G,synonymous_variant,p.%3D,ENST00000376818,;HLA-G,intron_variant,,ENST00000376815,;HLA-G,synonymous_variant,p.%3D,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,upstream_gene_variant,,ENST00000443049,;	931	122	186	SUCCESS
ZNRD1	0	.	GRCh37	6	30029708	30029708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	60	134	0	ENST00000332435.5:c.160G>A	p.Val54Ile	p.V54I	ENST00000332435	NM_170783.3	54	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS4670.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGTTGTG	NONE	.	.	hmmpanther:PTHR11239:SF11,hmmpanther:PTHR11239,PIRSF_domain:PIRSF005586	.	.	ENSP00000331111	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000332435	Transcript	.	.	ENSG00000066379	13182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.34)	.	RPA12_HUMAN	ZNRD1	HGNC	Q2L6J2_HUMAN	.	UPI00000437B6	SNV	ZNRD1,missense_variant,p.Val54Ile,ENST00000359374,;ZNRD1,missense_variant,p.Val54Ile,ENST00000376785,;ZNRD1,missense_variant,p.Val54Ile,ENST00000376782,;ZNRD1,missense_variant,p.Val54Ile,ENST00000332435,;PPP1R11,upstream_gene_variant,,ENST00000376773,;ZNRD1-AS1,upstream_gene_variant,,ENST00000437417,;ZNRD1-AS1,upstream_gene_variant,,ENST00000420251,;ZNRD1-AS1,upstream_gene_variant,,ENST00000452229,;ZNRD1-AS1,upstream_gene_variant,,ENST00000448093,;ZNRD1-AS1,upstream_gene_variant,,ENST00000422224,;ZNRD1-AS1,upstream_gene_variant,,ENST00000421692,;ZNRD1-AS1,upstream_gene_variant,,ENST00000425604,;ZNRD1-AS1,upstream_gene_variant,,ENST00000431012,;ZNRD1-AS1,upstream_gene_variant,,ENST00000376797,;ZNRD1,intron_variant,,ENST00000463141,;ZNRD1,non_coding_transcript_exon_variant,,ENST00000471008,;	431	134	172	SUCCESS
TRIM15	89870	.	GRCh37	6	30139690	30139692	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	rs760829851	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	254	102	265	0	ENST00000376694.4:c.968_970del	p.Lys323del	p.K323del	ENST00000376694	NM_033229.2	321	cAGAag/cag	0	.	.	.	.	.	-	QK/Q	protein_coding	YES	CCDS4677.1	962-964	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGGCAGAAGAAG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF259,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000365884	.	7/7	.	.	.	.	.	.	.	.	rs760829851	7/7	PASS	ENST00000376694	Transcript	.	.	ENSG00000204610	16284	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI15_HUMAN	TRIM15	HGNC	Q5SRL0_HUMAN	.	UPI0000137066	deletion	TRIM15,inframe_deletion,p.Glu153del,ENST00000433744,;TRIM15,inframe_deletion,p.Lys323del,ENST00000376694,;TRIM15,intron_variant,,ENST00000376688,;TRIM15,downstream_gene_variant,,ENST00000477944,;	1431-1433	265	356	SUCCESS
RIPK1	8737	.	GRCh37	6	3077020	3077020	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs200422354	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	75	0	ENST00000259808.4:c.-38A>G		p.*13*	ENST00000259808				0	.	G:0	.	G:0.0014	.	G	.	protein_coding	YES	CCDS4482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGAAAAAG	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000259808	G:0.001	2/11	.	.	.	.	.	.	.	.	rs200422354,rs775048451	2/11	common_in_exac	ENST00000259808	Transcript	.	G:0.0004	ENSG00000137275	10019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	RIPK1_HUMAN	RIPK1	HGNC	.	.	UPI000000DC95	SNV	RIPK1,5_prime_UTR_variant,,ENST00000259808,;RIPK1,upstream_gene_variant,,ENST00000380409,;RIPK1,upstream_gene_variant,,ENST00000541791,;RIPK1,intron_variant,,ENST00000479389,;	261	75	33	SUCCESS
DDR1	780	.	GRCh37	6	30864468	30864468	+	synonymous_variant	Silent	SNP	C	C	T	rs761327466	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	52	225	0	ENST00000324771.8:c.1695C>T	p.Ser565=	p.S565=	ENST00000324771		565	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47396.1	1695	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCGTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF65	.	.	ENSP00000365759	.	15/20	.	.	.	.	.	.	.	.	rs761327466	15/20	PASS	ENST00000376575	Transcript	.	.	ENSG00000204580	2730	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDR1_HUMAN	DDR1	HGNC	E7EXB0_HUMAN,E7EX99_HUMAN,E7EVW6_HUMAN,E7EVT1_HUMAN,E7EUD5_HUMAN,E7ETX3_HUMAN,E7ETI3_HUMAN,E7ESR9_HUMAN,E7ES06_HUMAN,E7ERN0_HUMAN,E7ERI6_HUMAN,E7EQ30_HUMAN,E7EQ23_HUMAN,E7EPN2_HUMAN,E7EPH4_HUMAN,E7ENJ2_HUMAN,E7EN94_HUMAN,D6RGW5_HUMAN,D6RBU7_HUMAN,D6RB82_HUMAN,D6RB35_HUMAN,D6R9C4_HUMAN,A2ABL2_HUMAN,A2ABL0_HUMAN	.	UPI0000146C6D	SNV	DDR1,synonymous_variant,p.%3D,ENST00000376567,;DDR1,synonymous_variant,p.%3D,ENST00000508312,;DDR1,synonymous_variant,p.%3D,ENST00000376575,;DDR1,synonymous_variant,p.%3D,ENST00000376569,;DDR1,synonymous_variant,p.%3D,ENST00000418800,;DDR1,synonymous_variant,p.%3D,ENST00000324771,;DDR1,synonymous_variant,p.%3D,ENST00000514434,;DDR1,synonymous_variant,p.%3D,ENST00000376568,;DDR1,synonymous_variant,p.%3D,ENST00000513240,;DDR1,synonymous_variant,p.%3D,ENST00000376570,;DDR1,synonymous_variant,p.%3D,ENST00000452441,;DDR1,synonymous_variant,p.%3D,ENST00000454612,;DDR1,3_prime_UTR_variant,,ENST00000446312,;DDR1,intron_variant,,ENST00000417521,;DDR1,intron_variant,,ENST00000361741,;DDR1,downstream_gene_variant,,ENST00000515219,;DDR1,downstream_gene_variant,,ENST00000460944,;DDR1,upstream_gene_variant,,ENST00000484556,;DDR1,downstream_gene_variant,,ENST00000428153,;DDR1,intron_variant,,ENST00000513514,;DDR1,intron_variant,,ENST00000465966,;DDR1,downstream_gene_variant,,ENST00000508472,;DDR1,3_prime_UTR_variant,,ENST00000482873,;DDR1,downstream_gene_variant,,ENST00000514534,;DDR1,downstream_gene_variant,,ENST00000507533,;DDR1,downstream_gene_variant,,ENST00000485023,;	2028	225	271	SUCCESS
GTF2H4	2968	.	GRCh37	6	30881751	30881751	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs767311152	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	78	177	0	ENST00000259895.4:c.1380T>G	p.His460Gln	p.H460Q	ENST00000259895	NM_001517.4	460	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS34386.1	1380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATAGCTC	NONE	byFrequency	.	TIGRFAM_domain:TIGR00625,hmmpanther:PTHR13152	.	.	ENSP00000259895	.	14/14	.	.	.	.	.	.	.	.	rs767311152	14/14	PASS	ENST00000259895	Transcript	.	.	ENSG00000213780	4658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	TF2H4_HUMAN	GTF2H4	HGNC	.	.	UPI000000D741	SNV	GTF2H4,missense_variant,p.His460Gln,ENST00000376316,;GTF2H4,missense_variant,p.His460Gln,ENST00000259895,;VARS2,upstream_gene_variant,,ENST00000321897,;VARS2,upstream_gene_variant,,ENST00000421263,;VARS2,upstream_gene_variant,,ENST00000542001,;GTF2H4,downstream_gene_variant,,ENST00000539324,;VARS2,upstream_gene_variant,,ENST00000416670,;GTF2H4,downstream_gene_variant,,ENST00000453897,;VARS2,upstream_gene_variant,,ENST00000428017,;VARS2,upstream_gene_variant,,ENST00000541562,;VARS2,upstream_gene_variant,,ENST00000467717,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000483318,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000475845,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,upstream_gene_variant,,ENST00000469358,;VARS2,upstream_gene_variant,,ENST00000490699,;GTF2H4,downstream_gene_variant,,ENST00000487746,;	1603	177	259	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31084588	31084588	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	59	0	ENST00000259881.9:c.-229+1920A>C		p.*77*	ENST00000259881	NM_014068.2	268		0	.	.	.	.	.	C	V	protein_coding	YES	CCDS34389.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGAACCAC	NONE	.	.	hmmpanther:PTHR23207:SF1,hmmpanther:PTHR23207	.	.	ENSP00000365465	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376288	Transcript	.	.	ENSG00000204539	1802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CDSN	HGNC	Q7Z560_HUMAN,G8JLG2_HUMAN	.	UPI00001AFE92	SNV	CDSN,synonymous_variant,p.%3D,ENST00000376288,;PSORS1C1,intron_variant,,ENST00000259881,;C6orf15,upstream_gene_variant,,ENST00000259870,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000467107,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,intron_variant,,ENST00000493289,;PSORS1C1,intron_variant,,ENST00000548049,;PSORS1C1,intron_variant,,ENST00000552747,;PSORS1C1,intron_variant,,ENST00000550838,;	831	59	100	SUCCESS
SLC44A4	80736	.	GRCh37	6	31846769	31846769	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs777899174	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	56	0	ENST00000229729.6:c.-12G>A		p.*4*	ENST00000229729	NM_025257.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4724.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCCGGAGT	NONE	byFrequency	.	.	.	.	ENSP00000229729	.	1/21	.	.	.	.	.	.	.	.	rs777899174	1/21	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,5_prime_UTR_variant,,ENST00000229729,;SLC44A4,5_prime_UTR_variant,,ENST00000375562,;EHMT2,downstream_gene_variant,,ENST00000436026,;EHMT2,downstream_gene_variant,,ENST00000375528,;EHMT2,downstream_gene_variant,,ENST00000395728,;EHMT2,downstream_gene_variant,,ENST00000375530,;EHMT2,downstream_gene_variant,,ENST00000375537,;SLC44A4,upstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000544672,;EHMT2-AS1,upstream_gene_variant,,ENST00000434689,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000465707,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000462671,;EHMT2,downstream_gene_variant,,ENST00000480912,;EHMT2,downstream_gene_variant,,ENST00000478491,;EHMT2,downstream_gene_variant,,ENST00000461880,;EHMT2,downstream_gene_variant,,ENST00000494816,;	10	56	59	SUCCESS
AGPAT1	10554	.	GRCh37	6	32138331	32138331	+	synonymous_variant	Silent	SNP	G	G	A	rs528693769	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	79	0	ENST00000336984.6:c.381C>T	p.Arg127=	p.R127=	ENST00000336984	NM_032741.4	127	cgC/cgT	0	.	A:0	.	A:0.0029	.	A	R	protein_coding	YES	CCDS4744.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGCGCTT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF1,Pfam_domain:PF01553,Gene3D:1iuqA02,TIGRFAM_domain:TIGR00530,SMART_domains:SM00563,Superfamily_domains:0039877	A:0	.	ENSP00000378877	A:0	4/7	.	.	.	.	.	.	.	.	rs528693769	4/7	PASS	ENST00000395499	Transcript	.	A:0.0004	ENSG00000204310	324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PLCA_HUMAN	AGPAT1	HGNC	Q9HBM8_HUMAN,Q71VH6_HUMAN	.	UPI0000131BD2	SNV	AGPAT1,synonymous_variant,p.%3D,ENST00000395496,;AGPAT1,synonymous_variant,p.%3D,ENST00000375107,;AGPAT1,synonymous_variant,p.%3D,ENST00000395499,;AGPAT1,synonymous_variant,p.%3D,ENST00000375104,;AGPAT1,synonymous_variant,p.%3D,ENST00000395497,;AGPAT1,synonymous_variant,p.%3D,ENST00000336984,;AGPAT1,synonymous_variant,p.%3D,ENST00000412465,;EGFL8,downstream_gene_variant,,ENST00000395512,;EGFL8,downstream_gene_variant,,ENST00000333845,;EGFL8,downstream_gene_variant,,ENST00000432129,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;AGPAT1,non_coding_transcript_exon_variant,,ENST00000476663,;AGPAT1,intron_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,downstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;EGFL8,downstream_gene_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;EGFL8,downstream_gene_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;	961	79	95	SUCCESS
AGER	177	.	GRCh37	6	32149317	32149317	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	40	103	0	ENST00000375076.4:c.992-63T>C		p.*331*	ENST00000375076	NM_001206929.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4746.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGACCATC	NONE	.	.	.	.	.	ENSP00000364217	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375076	Transcript	.	.	ENSG00000204305	320	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAGE_HUMAN	AGER	HGNC	Q9UQR5_HUMAN,Q3L1S0_HUMAN,Q101R2_HUMAN,E9LVY5_HUMAN,C0IP14_HUMAN	.	UPI00001330EF	SNV	AGER,3_prime_UTR_variant,,ENST00000375055,;AGER,3_prime_UTR_variant,,ENST00000438221,;RNF5,intron_variant,,ENST00000427134,;AGER,intron_variant,,ENST00000375070,;AGER,intron_variant,,ENST00000375065,;AGER,intron_variant,,ENST00000375076,;AGER,intron_variant,,ENST00000375067,;AGER,intron_variant,,ENST00000375069,;AGER,downstream_gene_variant,,ENST00000375056,;AGER,downstream_gene_variant,,ENST00000450110,;PBX2,downstream_gene_variant,,ENST00000375050,;AGPAT1,upstream_gene_variant,,ENST00000395499,;AGPAT1,upstream_gene_variant,,ENST00000375104,;AGPAT1,upstream_gene_variant,,ENST00000395497,;AGPAT1,upstream_gene_variant,,ENST00000336984,;RNF5,downstream_gene_variant,,ENST00000375094,;AGER,downstream_gene_variant,,ENST00000538695,;XXbac-BPG300A18.13,downstream_gene_variant,,ENST00000559458,;RNF5,downstream_gene_variant,,ENST00000487940,;AGPAT1,upstream_gene_variant,,ENST00000490711,;AGER,non_coding_transcript_exon_variant,,ENST00000488669,;AGER,non_coding_transcript_exon_variant,,ENST00000469940,;AGER,intron_variant,,ENST00000473619,;AGER,intron_variant,,ENST00000484849,;PBX2,downstream_gene_variant,,ENST00000495300,;	.	103	140	SUCCESS
ITPR3	3710	.	GRCh37	6	33608281	33608281	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	39	106	0	ENST00000374316.5:c.110T>C	p.Val37Ala	p.V37A	ENST00000374316		37	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4783.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTGGTGG	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715,Pfam_domain:PF08709,Gene3D:2.80.10.50	.	.	ENSP00000363435	.	3/59	.	.	.	.	.	.	.	.	.	3/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Val37Ala,ENST00000374316,;ITPR3,missense_variant,p.Val37Ala,ENST00000605930,;	1170	106	126	SUCCESS
IP6K3	117283	.	GRCh37	6	33693356	33693356	+	synonymous_variant	Silent	SNP	C	C	T	rs200747722	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	33	109	0	ENST00000293756.4:c.627G>A	p.Thr209=	p.T209=	ENST00000293756	NM_054111.4	209	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34435.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCGTGTA	NONE	byCluster	.	hmmpanther:PTHR12400:SF40,hmmpanther:PTHR12400,Pfam_domain:PF03770,Superfamily_domains:SSF56104	.	.	ENSP00000398861	.	6/7	.	.	.	.	.	.	.	.	rs200747722	6/7	PASS	ENST00000451316	Transcript	.	.	ENSG00000161896	17269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K3_HUMAN	IP6K3	HGNC	Q5TAQ4_HUMAN	.	UPI000013E117	SNV	IP6K3,synonymous_variant,p.%3D,ENST00000451316,;IP6K3,synonymous_variant,p.%3D,ENST00000293756,;	1163	109	109	SUCCESS
C6orf89	221477	.	GRCh37	6	36867219	36867219	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	107	0	ENST00000373685.1:c.-2A>T		p.*1*	ENST00000373685		7		0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS4827.1	20	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGACATGG	NONE	.	.	.	.	.	ENSP00000347322	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000355190	Transcript	.	.	ENSG00000198663	21114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated_low_confidence(0.06)	.	CF089_HUMAN	C6orf89	HGNC	Q5TDC5_HUMAN	.	UPI000035E870	SNV	C6orf89,missense_variant,p.Asp7Val,ENST00000355190,;C6orf89,5_prime_UTR_variant,,ENST00000510325,;C6orf89,5_prime_UTR_variant,,ENST00000359359,;C6orf89,5_prime_UTR_variant,,ENST00000373685,;C6orf89,5_prime_UTR_variant,,ENST00000480824,;	183	107	49	SUCCESS
TRERF1	55809	.	GRCh37	6	42200601	42200601	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	52	0	ENST00000372922.4:c.3096C>T	p.Gly1032=	p.G1032=	ENST00000372922	NM_033502.2	1032	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4867.1	3096	RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGCCATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000362013	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,synonymous_variant,p.%3D,ENST00000541110,;TRERF1,synonymous_variant,p.%3D,ENST00000340840,;TRERF1,synonymous_variant,p.%3D,ENST00000372922,;TRERF1,synonymous_variant,p.%3D,ENST00000372917,;TRERF1,synonymous_variant,p.%3D,ENST00000354325,;	3659	52	123	SUCCESS
TBCC	6903	.	GRCh37	6	42713333	42713333	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs1487437771	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	441	80	165	0	ENST00000372876.1:c.479del	p.Pro160ArgfsTer49	p.P160Rfs*49	ENST00000372876	NM_003192.2	160	cCg/cg	0	.	C:0.0023	.	C:0	.	-	P/X	protein_coding	YES	CCDS4872.1	479	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGCCGGGGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15139	C:0	.	ENSP00000244625	C:0	2/2	.	.	.	.	.	.	.	.	rs201664636	2/2	PASS	ENST00000244625	Transcript	.	C:0.0006	ENSG00000124659	11580	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0	.	.	TBCC_HUMAN	TBCC	HGNC	.	.	UPI000013CB83	deletion	TBCC,frameshift_variant,p.Pro160ArgfsTer49,ENST00000372876,;TBCC,frameshift_variant,p.Pro160ArgfsTer49,ENST00000244625,;	1043	165	521	SUCCESS
GLTSCR1L	0	.	GRCh37	6	42796557	42796557	+	synonymous_variant	Silent	SNP	G	G	A	rs754888670	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	69	105	0	ENST00000314073.5:c.486G>A	p.Thr162=	p.T162=	ENST00000314073		162	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34451.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGCTGCA	NONE	byFrequency	.	hmmpanther:PTHR15572:SF2,hmmpanther:PTHR15572	.	.	ENSP00000313933	.	6/13	.	.	.	.	.	.	.	.	rs754888670	6/13	PASS	ENST00000314073	Transcript	.	.	ENSG00000112624	21111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSC1L_HUMAN	GLTSCR1L	HGNC	.	.	UPI0000161939	SNV	GLTSCR1L,synonymous_variant,p.%3D,ENST00000394168,;GLTSCR1L,synonymous_variant,p.%3D,ENST00000314073,;	662	105	296	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42975948	42975948	+	synonymous_variant	Silent	SNP	C	C	T	rs759229882	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	32	125	0	ENST00000485511.1:c.867C>T	p.Tyr289=	p.Y289=	ENST00000485511	NM_001270476.1	289	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS4878.1	867	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACGAGAC	NONE	byFrequency	.	hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000417963	.	8/16	.	.	.	.	.	.	.	.	rs759229882	8/16	PASS	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,synonymous_variant,p.%3D,ENST00000461010,;PPP2R5D,synonymous_variant,p.%3D,ENST00000485511,;PPP2R5D,synonymous_variant,p.%3D,ENST00000394110,;PPP2R5D,synonymous_variant,p.%3D,ENST00000470467,;PPP2R5D,synonymous_variant,p.%3D,ENST00000472118,;PPP2R5D,upstream_gene_variant,,ENST00000486843,;MEA1,downstream_gene_variant,,ENST00000244711,;PPP2R5D,3_prime_UTR_variant,,ENST00000230402,;PPP2R5D,non_coding_transcript_exon_variant,,ENST00000467447,;PPP2R5D,upstream_gene_variant,,ENST00000482315,;	1046	125	254	SUCCESS
MRPL2	51069	.	GRCh37	6	43022091	43022091	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	36	67	0	ENST00000388752.3:c.839del	p.Gly280AlafsTer13	p.G280Afs*13	ENST00000388752	NM_015950.3	280	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS34454.1	839	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCAGCCCCCC	NONE	.	.	hmmpanther:PTHR13691,hmmpanther:PTHR13691:SF15,Superfamily_domains:SSF50104	.	.	ENSP00000373404	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000388752	Transcript	.	.	ENSG00000112651	14056	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RM02_HUMAN	MRPL2	HGNC	.	.	UPI000006FF26	deletion	MRPL2,frameshift_variant,p.Gly280AlafsTer13,ENST00000388752,;MRPL2,3_prime_UTR_variant,,ENST00000489623,;MRPL2,3_prime_UTR_variant,,ENST00000230413,;MRPL2,downstream_gene_variant,,ENST00000468957,;CUL7,upstream_gene_variant,,ENST00000535468,;MRPL2,downstream_gene_variant,,ENST00000487429,;CUL7,upstream_gene_variant,,ENST00000265348,;MRPL2,non_coding_transcript_exon_variant,,ENST00000485654,;KLC4,intron_variant,,ENST00000467906,;MRPL2,downstream_gene_variant,,ENST00000470667,;MRPL2,downstream_gene_variant,,ENST00000480286,;MRPL2,downstream_gene_variant,,ENST00000491898,;	1264	67	216	SUCCESS
MRPL2	51069	.	GRCh37	6	43023917	43023917	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	64	68	0	ENST00000388752.3:c.422T>C	p.Leu141Pro	p.L141P	ENST00000388752	NM_015950.3	141	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34454.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCAGAGCT	NONE	.	.	hmmpanther:PTHR13691,hmmpanther:PTHR13691:SF15,Gene3D:2.40.50.140,Pfam_domain:PF00181,Superfamily_domains:SSF50249	.	.	ENSP00000373404	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000388752	Transcript	.	.	ENSG00000112651	14056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	RM02_HUMAN	MRPL2	HGNC	.	.	UPI000006FF26	SNV	MRPL2,missense_variant,p.Leu141Pro,ENST00000388752,;MRPL2,missense_variant,p.Leu141Pro,ENST00000230413,;MRPL2,intron_variant,,ENST00000489623,;MRPL2,downstream_gene_variant,,ENST00000468957,;KLC4,upstream_gene_variant,,ENST00000470728,;KLC4,upstream_gene_variant,,ENST00000479388,;CUL7,upstream_gene_variant,,ENST00000535468,;KLC4,upstream_gene_variant,,ENST00000453940,;KLC4,upstream_gene_variant,,ENST00000394056,;KLC4,upstream_gene_variant,,ENST00000259708,;KLC4,upstream_gene_variant,,ENST00000481888,;KLC4,upstream_gene_variant,,ENST00000479632,;KLC4,upstream_gene_variant,,ENST00000472792,;KLC4,upstream_gene_variant,,ENST00000458460,;KLC4,upstream_gene_variant,,ENST00000347162,;KLC4,upstream_gene_variant,,ENST00000394058,;KLC4,upstream_gene_variant,,ENST00000460283,;MRPL2,downstream_gene_variant,,ENST00000487429,;CUL7,upstream_gene_variant,,ENST00000265348,;MRPL2,non_coding_transcript_exon_variant,,ENST00000470667,;MRPL2,non_coding_transcript_exon_variant,,ENST00000491898,;MRPL2,non_coding_transcript_exon_variant,,ENST00000480286,;KLC4,intron_variant,,ENST00000467906,;MRPL2,upstream_gene_variant,,ENST00000485654,;KLC4,upstream_gene_variant,,ENST00000481499,;	847	68	163	SUCCESS
CUL9	23113	.	GRCh37	6	43190596	43190596	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	45	82	0	ENST00000252050.4:c.7112A>G	p.Asn2371Ser	p.N2371S	ENST00000252050	NM_015089.2	2371	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS4890.1	7112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAACCTGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.66)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Asn2261Ser,ENST00000354495,;CUL9,missense_variant,p.Asn2343Ser,ENST00000372647,;CUL9,missense_variant,p.Asn2371Ser,ENST00000252050,;DNPH1,downstream_gene_variant,,ENST00000509253,;DNPH1,downstream_gene_variant,,ENST00000393987,;DNPH1,downstream_gene_variant,,ENST00000230431,;RP3-330M21.5,intron_variant,,ENST00000500590,;CUL9,3_prime_UTR_variant,,ENST00000506830,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000505405,;CUL9,non_coding_transcript_exon_variant,,ENST00000503766,;CUL9,downstream_gene_variant,,ENST00000512423,;DNPH1,downstream_gene_variant,,ENST00000505042,;CUL9,downstream_gene_variant,,ENST00000508656,;CUL9,upstream_gene_variant,,ENST00000504647,;	7196	82	194	SUCCESS
SLC22A7	10864	.	GRCh37	6	43267678	43267678	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	260	27	133	0	ENST00000372585.5:c.701T>C	p.Val234Ala	p.V234A	ENST00000372585	NM_153320.2	234	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4893.2	701	MUTECT|MUSE|VARSCANS	.	TGGAGTCCTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,Pfam_domain:PF07690,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473	.	.	ENSP00000361666	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000372585	Transcript	.	.	ENSG00000137204	10971	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.816)	.	deleterious(0)	.	S22A7_HUMAN	SLC22A7	HGNC	.	.	UPI000006F307	SNV	SLC22A7,missense_variant,p.Val232Ala,ENST00000372589,;SLC22A7,missense_variant,p.Val232Ala,ENST00000372574,;SLC22A7,missense_variant,p.Val106Ala,ENST00000451757,;SLC22A7,missense_variant,p.Val234Ala,ENST00000372585,;CRIP3,intron_variant,,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000449231,;SLC22A7,upstream_gene_variant,,ENST00000436107,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000487175,;SLC22A7,downstream_gene_variant,,ENST00000480882,;SLC22A7,3_prime_UTR_variant,,ENST00000498232,;	796	133	287	SUCCESS
ABCC10	89845	.	GRCh37	6	43402386	43402386	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751655535	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	19	51	0	ENST00000372530.4:c.1408C>T	p.Arg470Trp	p.R470W	ENST00000372530	NM_001198934.1	470	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS56430.1	1408	RADIA|MUTECT|MUSE|VARSCANS	.	GCATTCGGGTC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000361608	.	4/22	.	.	.	.	.	.	.	.	rs751655535	4/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,missense_variant,p.Arg470Trp,ENST00000372530,;ABCC10,missense_variant,p.Arg26Trp,ENST00000372515,;ABCC10,missense_variant,p.Arg427Trp,ENST00000244533,;ABCC10,non_coding_transcript_exon_variant,,ENST00000443426,;ABCC10,downstream_gene_variant,,ENST00000502549,;ABCC10,upstream_gene_variant,,ENST00000469856,;ABCC10,upstream_gene_variant,,ENST00000463024,;	1623	51	178	SUCCESS
ABCC10	89845	.	GRCh37	6	43412531	43412531	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761231615	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	23	50	0	ENST00000372530.4:c.2695C>T	p.Arg899Trp	p.R899W	ENST00000372530	NM_001198934.1	899	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS56430.1	2695	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCGGAAC	NONE	byFrequency	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223,Gene3D:2hydA01	.	.	ENSP00000361608	.	13/22	.	.	.	.	.	.	.	.	rs761231615,COSM421296	13/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.93)	.	deleterious(0)	0,1	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,missense_variant,p.Arg899Trp,ENST00000372530,;ABCC10,missense_variant,p.Arg871Trp,ENST00000244533,;ABCC10,downstream_gene_variant,,ENST00000372515,;ABCC10,upstream_gene_variant,,ENST00000505344,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,upstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000469856,;ABCC10,upstream_gene_variant,,ENST00000372512,;	2910	51	131	SUCCESS
XPO5	57510	.	GRCh37	6	43526266	43526266	+	synonymous_variant	Silent	SNP	G	G	A	rs764721782	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	374	43	153	0	ENST00000265351.7:c.1284C>T	p.Ser428=	p.S428=	ENST00000265351	NM_020750.2	428	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47430.1	1284	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGCTATC	NONE	byFrequency	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000265351	.	12/32	.	.	.	.	.	.	.	.	rs764721782	12/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,synonymous_variant,p.%3D,ENST00000265351,;RP3-337H4.10,upstream_gene_variant,,ENST00000607635,;XPO5,non_coding_transcript_exon_variant,,ENST00000424378,;XPO5,intron_variant,,ENST00000496341,;	1495	153	418	SUCCESS
TDRD6	221400	.	GRCh37	6	46656045	46656045	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	9	54	0	ENST00000316081.6:c.180G>T	p.Trp60Cys	p.W60C	ENST00000316081	NM_001010870.2	60	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS34470.1	180	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGGCGCT	NONE	.	.	Superfamily_domains:SSF63748,Gene3D:2.30.30.140,Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.064)	.	tolerated(0.15)	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,missense_variant,p.Trp60Cys,ENST00000316081,;TDRD6,missense_variant,p.Trp60Cys,ENST00000544460,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	180	54	93	SUCCESS
GPR116	0	.	GRCh37	6	46874483	46874483	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	66	144	0	ENST00000265417.7:c.17G>C	p.Arg6Thr	p.R6T	ENST00000265417	NM_015234.4	6	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS4919.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCTCCTT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000283296	.	2/21	.	.	.	.	.	.	.	.	COSM3628056,COSM189770	2/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	tolerated(0.43)	1,1	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	SNV	GPR116,missense_variant,p.Arg6Thr,ENST00000265417,;GPR116,missense_variant,p.Arg6Thr,ENST00000456426,;GPR116,missense_variant,p.Arg6Thr,ENST00000283296,;GPR116,missense_variant,p.Arg6Thr,ENST00000362015,;RP3-365O12.2,intron_variant,,ENST00000451135,;	306	144	202	SUCCESS
GPR115	0	.	GRCh37	6	47682484	47682484	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	52	72	0	ENST00000283303.2:c.1503A>G	p.Gly501=	p.G501=	ENST00000283303	NM_153838.3	501	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS4922.2	1503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGAATATT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF229,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000283303	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000283303	Transcript	.	.	ENSG00000153294	19011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP115_HUMAN	GPR115	HGNC	.	.	UPI000046FF2B	SNV	GPR115,synonymous_variant,p.%3D,ENST00000283303,;GPR115,synonymous_variant,p.%3D,ENST00000327753,;GPR115,synonymous_variant,p.%3D,ENST00000371220,;RN7SKP116,upstream_gene_variant,,ENST00000516902,;	1761	72	150	SUCCESS
DST	667	.	GRCh37	6	56765220	56765220	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	116	0	ENST00000370754.5:c.416C>A	p.Pro139His	p.P139H	ENST00000370754		139	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	.	.	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGGCCTC	NONE	.	.	.	.	.	ENSP00000393082	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000449297	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0)	.	.	DST	HGNC	Q8WXY3_HUMAN,Q5T0V7_HUMAN,E7ESK0_HUMAN	.	UPI00004700FB	SNV	DST,missense_variant,p.Pro139His,ENST00000449297,;DST,missense_variant,p.Pro139His,ENST00000370754,;	457	116	91	SUCCESS
COL19A1	1310	.	GRCh37	6	70866035	70866035	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	136	0	ENST00000322773.4:c.2096G>A	p.Cys699Tyr	p.C699Y	ENST00000322773	NM_001858.4	699	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS4970.1	2096	MUTECT|MUSE|VARSCANS	.	CAACTGCCAAG	NONE	.	.	hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	.	.	ENSP00000316030	.	32/51	.	.	.	.	.	.	.	.	.	32/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Cys699Tyr,ENST00000322773,;COL19A1,missense_variant,p.Cys321Tyr,ENST00000393344,;	2198	136	65	SUCCESS
B3GAT2	135152	.	GRCh37	6	71603972	71603972	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs750513549	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	92	170	0	ENST00000230053.6:c.595C>T	p.Arg199Ter	p.R199*	ENST00000230053	NM_080742.2	199	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS4974.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGCATCT	NONE	byFrequency	.	hmmpanther:PTHR10896:SF8,hmmpanther:PTHR10896,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448	.	.	ENSP00000230053	.	2/4	.	.	.	.	.	.	.	.	rs750513549,COSM743228	2/4	PASS	ENST00000230053	Transcript	.	.	ENSG00000112309	922	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	B3GA2_HUMAN	B3GAT2	HGNC	A8K1V3_HUMAN	.	UPI000012670C	SNV	B3GAT2,stop_gained,p.Arg199Ter,ENST00000230053,;	1204	170	108	SUCCESS
RREB1	6239	.	GRCh37	6	7231535	7231535	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	52	92	0	ENST00000349384.6:c.3203T>C	p.Ile1068Thr	p.I1068T	ENST00000349384	NM_001003698.3	1068	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34335.1	3203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATTGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42	.	.	ENSP00000369270	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000379938	Transcript	.	.	ENSG00000124782	10449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	RREB1_HUMAN	RREB1	HGNC	C9JU34_HUMAN,C9JPJ6_HUMAN,C9JE09_HUMAN	.	UPI000020E496	SNV	RREB1,missense_variant,p.Ile1068Thr,ENST00000349384,;RREB1,missense_variant,p.Ile1068Thr,ENST00000334984,;RREB1,missense_variant,p.Ile1068Thr,ENST00000379938,;RREB1,missense_variant,p.Ile1068Thr,ENST00000379933,;RREB1,downstream_gene_variant,,ENST00000483150,;	3740	92	70	SUCCESS
IBTK	25998	.	GRCh37	6	82891683	82891683	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs757667533	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	44	108	0	ENST00000306270.7:c.3638del	p.Lys1213SerfsTer50	p.K1213Sfs*50	ENST00000306270	NM_015525.2	1213	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS34490.1	3638	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGACTTTTTT	NONE	.	.	hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2	.	.	ENSP00000305721	.	26/29	.	.	.	.	.	.	.	.	rs757667533	26/29	PASS	ENST00000306270	Transcript	.	.	ENSG00000005700	17853	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IBTK_HUMAN	IBTK	HGNC	.	.	UPI000041929F	deletion	IBTK,frameshift_variant,p.Lys1198SerfsTer50,ENST00000510291,;IBTK,frameshift_variant,p.Lys1012SerfsTer50,ENST00000503631,;IBTK,frameshift_variant,p.Lys1213SerfsTer50,ENST00000306270,;IBTK,frameshift_variant,p.Lys92SerfsTer32,ENST00000471036,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;	4188	108	109	SUCCESS
SYNCRIP	10492	.	GRCh37	6	86333797	86333797	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	72	0	ENST00000369622.3:c.700A>G	p.Ile234Val	p.I234V	ENST00000369622	NM_001159675.1	234	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5005.1	700	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAATATGTT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01648,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF131,PROSITE_profiles:PS50102	.	.	ENSP00000358635	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000369622	Transcript	.	.	ENSG00000135316	16918	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	deleterious(0.01)	.	HNRPQ_HUMAN	SYNCRIP	HGNC	F6UXX1_HUMAN	.	UPI000013CF84	SNV	SYNCRIP,missense_variant,p.Ile234Val,ENST00000355238,;SYNCRIP,missense_variant,p.Ile234Val,ENST00000369622,;	1201	72	49	SUCCESS
ZNF292	23036	.	GRCh37	6	87967623	87967623	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs370977114	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	117	0	ENST00000369577.3:c.4276A>T	p.Ile1426Phe	p.I1426F	ENST00000369577	NM_015021.1	1426	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS47457.1	4276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGATTCTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	.	.	ENSP00000358590	.	8/8	.	.	.	.	.	.	.	.	rs370977114	8/8	PASS	ENST00000369577	Transcript	.	.	ENSG00000188994	18410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	ZN292_HUMAN	ZNF292	HGNC	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN	.	UPI000020D2CC	SNV	ZNF292,missense_variant,p.Ile1426Phe,ENST00000369577,;ZNF292,missense_variant,p.Ile1421Phe,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	4319	117	69	SUCCESS
MANEA	79694	.	GRCh37	6	96035216	96035216	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	45	139	0	ENST00000358812.4:c.544+357A>G		p.*182*	ENST00000358812	NM_024641.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5032.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATACCACC	NONE	.	.	.	.	.	ENSP00000351669	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358812	Transcript	.	.	ENSG00000172469	21072	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANEA_HUMAN	MANEA	HGNC	.	.	UPI000020DF99	SNV	MANEA,3_prime_UTR_variant,,ENST00000369293,;MANEA,intron_variant,,ENST00000358812,;MANEA,upstream_gene_variant,,ENST00000474553,;	.	139	63	SUCCESS
NYAP1	222950	.	GRCh37	7	100084550	100084550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	147	0	ENST00000300179.2:c.175G>T	p.Gly59Cys	p.G59C	ENST00000300179	NM_173564.3	59	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS5696.1	175	MUTECT|MUSE	.	GGATGGGTTTC	NONE	.	.	hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	.	.	ENSP00000300179	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,missense_variant,p.Gly2Cys,ENST00000454988,;NYAP1,missense_variant,p.Gly59Cys,ENST00000423930,;NYAP1,missense_variant,p.Gly59Cys,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	334	147	146	SUCCESS
AGFG2	3268	.	GRCh37	7	100159952	100159952	+	synonymous_variant	Silent	SNP	C	C	T	rs550739522	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	50	144	0	ENST00000300176.4:c.948C>T	p.Asp316=	p.D316=	ENST00000300176	NM_006076.4	316	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS5697.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACGTGGG	NONE	by1000G	.	hmmpanther:PTHR23180:SF233,hmmpanther:PTHR23180	T:0	.	ENSP00000300176	T:0.001	7/12	.	.	.	.	.	.	.	.	rs550739522,COSM598027	7/12	PASS	ENST00000300176	Transcript	.	T:0.0002	ENSG00000106351	5177	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	AGFG2_HUMAN	AGFG2	HGNC	A4D2D6_HUMAN	.	UPI000003E7D5	SNV	AGFG2,synonymous_variant,p.%3D,ENST00000429987,;AGFG2,synonymous_variant,p.%3D,ENST00000300176,;AGFG2,3_prime_UTR_variant,,ENST00000262935,;AGFG2,non_coding_transcript_exon_variant,,ENST00000474713,;AGFG2,3_prime_UTR_variant,,ENST00000430857,;	1070	144	117	SUCCESS
MUC17	140453	.	GRCh37	7	100678585	100678585	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	77	0	ENST00000306151.4:c.3888C>T	p.Ser1296=	p.S1296=	ENST00000306151	NM_001040105.1	1296	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34711.1	3888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGCACCCT	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;	3952	77	47	SUCCESS
AP1S1	1174	.	GRCh37	7	100797686	100797686	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	83	0	ENST00000337619.5:c.-107del		p.*36*	ENST00000337619	NM_001283.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47669.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGACGGGGCG	NONE	.	.	.	.	.	ENSP00000336666	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000337619	Transcript	.	.	ENSG00000106367	559	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP1S1_HUMAN	AP1S1	HGNC	.	.	UPI0000027F3C	deletion	AP1S1,5_prime_UTR_variant,,ENST00000337619,;AP1S1,upstream_gene_variant,,ENST00000429457,;AP1S1,upstream_gene_variant,,ENST00000443943,;	9	83	75	SUCCESS
DNAJC2	27000	.	GRCh37	7	102953447	102953447	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	20	128	0	ENST00000379263.3:c.1738del	p.Ile580Ter	p.I580*	ENST00000379263	NM_014377.1	580	Ata/ta	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS43628.1	1738	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCTATTTTTT	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67,Gene3D:1.10.10.60,Pfam_domain:PF00249,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000368565	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000379263	Transcript	.	.	ENSG00000105821	13192	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DNJC2_HUMAN	DNAJC2	HGNC	Q08AR5_HUMAN,C9IZ83_HUMAN	.	UPI000020F858	deletion	DNAJC2,frameshift_variant,p.Ile527Ter,ENST00000249270,;DNAJC2,frameshift_variant,p.Ile580Ter,ENST00000379263,;PMPCB,3_prime_UTR_variant,,ENST00000249269,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	1989	128	149	SUCCESS
DNAJC2	27000	.	GRCh37	7	102962478	102962478	+	synonymous_variant	Silent	SNP	C	C	T	rs142695020	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	80	0	ENST00000379263.3:c.984G>A	p.Glu328=	p.E328=	ENST00000379263	NM_014377.1	328	gaG/gaA	0	T:0.0147	T:0.0189	.	T:0	.	T	E	protein_coding	YES	CCDS43628.1	984	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTCTTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67	T:0	T:0	ENSP00000368565	T:0	10/17	.	.	.	.	.	.	.	.	rs142695020	10/17	common_in_exac	ENST00000379263	Transcript	.	T:0.0050	ENSG00000105821	13192	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	DNJC2_HUMAN	DNAJC2	HGNC	Q08AR5_HUMAN,C9IZ83_HUMAN	.	UPI000020F858	SNV	DNAJC2,synonymous_variant,p.%3D,ENST00000249270,;DNAJC2,synonymous_variant,p.%3D,ENST00000379263,;PMPCB,intron_variant,,ENST00000420236,;DNAJC2,downstream_gene_variant,,ENST00000454277,;DNAJC2,downstream_gene_variant,,ENST00000426036,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,upstream_gene_variant,,ENST00000475090,;DNAJC2,upstream_gene_variant,,ENST00000492497,;DNAJC2,downstream_gene_variant,,ENST00000483637,;DNAJC2,downstream_gene_variant,,ENST00000379257,;	1235	80	77	SUCCESS
SLC26A5	375611	.	GRCh37	7	103014890	103014890	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	102	0	ENST00000306312.3:c.2191G>A	p.Glu731Lys	p.E731K	ENST00000306312	NM_198999.2	731	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5733.1	2191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCTGGG	NONE	.	.	hmmpanther:PTHR11814:SF32,hmmpanther:PTHR11814	.	.	ENSP00000304783	.	20/20	.	.	.	.	.	.	.	.	COSM1699101	20/20	PASS	ENST00000306312	Transcript	.	.	ENSG00000170615	9359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.074)	.	tolerated(0.08)	1	S26A5_HUMAN	SLC26A5	HGNC	Q496J1_HUMAN	.	UPI0000132195	SNV	SLC26A5,missense_variant,p.Glu164Lys,ENST00000354356,;SLC26A5,missense_variant,p.Glu699Lys,ENST00000393730,;SLC26A5,missense_variant,p.Glu731Lys,ENST00000306312,;SLC26A5,missense_variant,p.Glu694Lys,ENST00000393729,;SLC26A5,missense_variant,p.Glu699Lys,ENST00000432958,;SLC26A5,missense_variant,p.Glu701Lys,ENST00000393723,;SLC26A5,missense_variant,p.Glu733Lys,ENST00000393727,;SLC26A5,intron_variant,,ENST00000339444,;SLC26A5,intron_variant,,ENST00000356767,;SLC26A5,intron_variant,,ENST00000393735,;SLC26A5,3_prime_UTR_variant,,ENST00000456463,;SLC26A5,3_prime_UTR_variant,,ENST00000445809,;SLC26A5,3_prime_UTR_variant,,ENST00000454864,;SLC26A5,3_prime_UTR_variant,,ENST00000423416,;	2453	102	83	SUCCESS
DOCK4	9732	.	GRCh37	7	111368349	111368349	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	6	146	0	ENST00000437633.1:c.5882G>A	p.Arg1961His	p.R1961H	ENST00000437633	NM_014705.3	1961	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS47688.1	5882	MUTECT|MUSE	.	CCTTGCGGGGC	NONE	.	.	.	.	.	ENSP00000404179	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious_low_confidence(0)	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Arg1994His,ENST00000445943,;DOCK4,missense_variant,p.Arg1970His,ENST00000428084,;DOCK4,missense_variant,p.Arg844His,ENST00000494651,;DOCK4,missense_variant,p.Arg1384His,ENST00000423057,;DOCK4,missense_variant,p.Arg1961His,ENST00000437633,;DOCK4,downstream_gene_variant,,ENST00000494769,;DOCK4,non_coding_transcript_exon_variant,,ENST00000486186,;	6139	147	149	SUCCESS
DOCK4	9732	.	GRCh37	7	111584884	111584884	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755355579	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	83	0	ENST00000437633.1:c.826G>A	p.Val276Met	p.V276M	ENST00000437633	NM_014705.3	276	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS47688.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACGGTGA	NONE	byFrequency	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75	.	.	ENSP00000404179	.	10/52	.	.	.	.	.	.	.	.	rs755355579	10/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	deleterious(0)	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Val264Met,ENST00000445943,;DOCK4,missense_variant,p.Val276Met,ENST00000428084,;DOCK4,missense_variant,p.Val276Met,ENST00000437633,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;	1083	83	107	SUCCESS
AASS	10157	.	GRCh37	7	121733126	121733126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	53	172	0	ENST00000393376.1:c.1742C>T	p.Pro581Leu	p.P581L	ENST00000393376		581	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5783.1	1742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGGTGTG	NONE	.	.	hmmpanther:PTHR11133:SF11,hmmpanther:PTHR11133,Gene3D:3.40.50.720,Pfam_domain:PF03435,Superfamily_domains:SSF51735	.	.	ENSP00000377040	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000393376	Transcript	.	.	ENSG00000008311	17366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	AASS_HUMAN	AASS	HGNC	A4D0W4_HUMAN	.	UPI000004A105	SNV	AASS,missense_variant,p.Pro581Leu,ENST00000417368,;AASS,missense_variant,p.Pro581Leu,ENST00000393376,;AASS,non_coding_transcript_exon_variant,,ENST00000473553,;AASS,missense_variant,p.Pro581Leu,ENST00000358954,;AASS,3_prime_UTR_variant,,ENST00000431170,;	1838	173	149	SUCCESS
VWDE	221806	.	GRCh37	7	12381716	12381716	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	72	0	ENST00000275358.3:c.4239A>G	p.Lys1413=	p.K1413=	ENST00000275358	NM_001135924.1	1413	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS47544.1	4239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTTTGCA	NONE	.	.	SMART_domains:SM00181,Pfam_domain:PF12661,Gene3D:2gy5A03,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,synonymous_variant,p.%3D,ENST00000275358,;VWDE,3_prime_UTR_variant,,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	4428	72	85	SUCCESS
STRA8	346673	.	GRCh37	7	134931258	134931258	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	107	0	ENST00000275764.3:c.536C>T	p.Ala179Val	p.A179V	ENST00000275764	NM_182489.1	179	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5839.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGCGGCCA	NONE	.	.	.	.	.	ENSP00000275764	.	6/9	.	.	.	.	.	.	.	.	COSM3394541	6/9	PASS	ENST00000275764	Transcript	.	.	ENSG00000146857	30653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.804)	.	deleterious(0.02)	1	STRA8_HUMAN	STRA8	HGNC	.	.	UPI00001A36D9	SNV	STRA8,missense_variant,p.Ala179Val,ENST00000275764,;	536	107	107	SUCCESS
ETV1	2115	.	GRCh37	7	14028330	14028330	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	277	296	452	0	ENST00000405192.2:c.45+303T>C		p.*15*	ENST00000405192	NM_001163147.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55088.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAAACCCA	NONE	.	.	.	.	.	ENSP00000405327	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000430479	Transcript	.	.	ENSG00000006468	3490	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETV1_HUMAN	ETV1	HGNC	C9J9L1_HUMAN,C9J4P4_HUMAN,C9J0B7_HUMAN	.	UPI000012A26E	SNV	ETV1,missense_variant,p.Phe21Ser,ENST00000405358,;ETV1,intron_variant,,ENST00000403685,;ETV1,intron_variant,,ENST00000343495,;ETV1,intron_variant,,ENST00000430479,;ETV1,intron_variant,,ENST00000405218,;ETV1,intron_variant,,ENST00000433547,;ETV1,intron_variant,,ENST00000431887,;ETV1,intron_variant,,ENST00000405192,;ETV1,intron_variant,,ENST00000242066,;ETV1,intron_variant,,ENST00000421381,;ETV1,upstream_gene_variant,,ENST00000420159,;ETV1,upstream_gene_variant,,ENST00000403527,;ETV1,upstream_gene_variant,,ENST00000438956,;ETV1,upstream_gene_variant,,ENST00000399357,;ETV1,upstream_gene_variant,,ENST00000443608,;ETV1,intron_variant,,ENST00000483075,;ETV1,upstream_gene_variant,,ENST00000476720,;ETV1,downstream_gene_variant,,ENST00000485475,;ETV1,upstream_gene_variant,,ENST00000497115,;ETV1,intron_variant,,ENST00000443137,;ETV1,intron_variant,,ENST00000460438,;ETV1,upstream_gene_variant,,ENST00000472931,;ETV1,upstream_gene_variant,,ENST00000476355,;	.	452	573	SUCCESS
FAM131B	9715	.	GRCh37	7	143055943	143055943	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	76	0	ENST00000409222.3:c.359A>G	p.Glu120Gly	p.E120G	ENST00000409222	NM_014690.4	120	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS47734.1	443	RADIA|MUTECT|MUSE	.	CCTTCTCGCCA	NONE	.	.	hmmpanther:PTHR15736:SF9,hmmpanther:PTHR15736,Pfam_domain:PF15010	.	.	ENSP00000410603	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000443739	Transcript	.	.	ENSG00000159784	22202	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	F131B_HUMAN	FAM131B	HGNC	D3DXE4_HUMAN	.	UPI0001633639	SNV	FAM131B,missense_variant,p.Glu148Gly,ENST00000443739,;FAM131B,missense_variant,p.Glu120Gly,ENST00000409408,;FAM131B,missense_variant,p.Glu120Gly,ENST00000409346,;FAM131B,missense_variant,p.Glu136Gly,ENST00000409578,;FAM131B,missense_variant,p.Glu120Gly,ENST00000409222,;FAM131B,3_prime_UTR_variant,,ENST00000521347,;FAM131B,3_prime_UTR_variant,,ENST00000519279,;FAM131B,3_prime_UTR_variant,,ENST00000410085,;FAM131B,downstream_gene_variant,,ENST00000519161,;	592	76	63	SUCCESS
FAM131B	9715	.	GRCh37	7	143055964	143055964	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	82	0	ENST00000409222.3:c.338A>G	p.Tyr113Cys	p.Y113C	ENST00000409222	NM_014690.4	113	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47734.1	422	RADIA|MUTECT|MUSE	.	CGGAGTAGGCA	NONE	.	.	hmmpanther:PTHR15736:SF9,hmmpanther:PTHR15736,Pfam_domain:PF15010	.	.	ENSP00000410603	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000443739	Transcript	.	.	ENSG00000159784	22202	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	F131B_HUMAN	FAM131B	HGNC	D3DXE4_HUMAN	.	UPI0001633639	SNV	FAM131B,missense_variant,p.Tyr141Cys,ENST00000443739,;FAM131B,missense_variant,p.Tyr113Cys,ENST00000409408,;FAM131B,missense_variant,p.Tyr113Cys,ENST00000409346,;FAM131B,missense_variant,p.Tyr129Cys,ENST00000409578,;FAM131B,missense_variant,p.Tyr113Cys,ENST00000409222,;FAM131B,3_prime_UTR_variant,,ENST00000521347,;FAM131B,3_prime_UTR_variant,,ENST00000519279,;FAM131B,3_prime_UTR_variant,,ENST00000410085,;FAM131B,downstream_gene_variant,,ENST00000519161,;	571	82	61	SUCCESS
TAS2R41	259287	.	GRCh37	7	143175777	143175777	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	40	119	0	ENST00000408916.1:c.812C>T	p.Ala271Val	p.A271V	ENST00000408916	NM_176883.2	271	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43663.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCAGTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000386201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408916	Transcript	.	.	ENSG00000221855	18883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	T2R41_HUMAN	TAS2R41	HGNC	.	.	UPI000000D823	SNV	TAS2R41,missense_variant,p.Ala271Val,ENST00000408916,;EPHA1-AS1,intron_variant,,ENST00000429289,;	812	119	104	SUCCESS
SSPO	0	.	GRCh37	7	149502586	149502586	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs780497274	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	65	1	ENST00000378016.2:n.8399G>A		p.*2800*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGTTCCC	NONE	byFrequency	.	.	.	.	.	.	57/109	.	.	.	.	.	.	.	.	rs780497274	57/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000484709,;	8399	66	63	SUCCESS
KCNH2	3757	.	GRCh37	7	150648807	150648807	+	synonymous_variant	Silent	SNP	C	C	T	rs554855472	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	85	0	ENST00000262186.5:c.1674G>A	p.Ala558=	p.A558=	ENST00000262186	NM_000238.3	558	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS5910.1	1674	RADIA|MUTECT|MUSE	.	ATGAGCGCAAA	NONE	byFrequency|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	T:0	.	ENSP00000262186	T:0	7/15	.	.	.	.	.	.	.	.	rs554855472	7/15	PASS	ENST00000262186	Transcript	.	T:0.0004	ENSG00000055118	6251	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.002	.	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,synonymous_variant,p.%3D,ENST00000262186,;KCNH2,synonymous_variant,p.%3D,ENST00000330883,;KCNH2,synonymous_variant,p.%3D,ENST00000430723,;KCNH2,synonymous_variant,p.%3D,ENST00000392968,;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	2076	85	81	SUCCESS
SLC4A2	6522	.	GRCh37	7	150772569	150772569	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370805035	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	18	0	ENST00000413384.2:c.3275C>T	p.Thr1092Met	p.T1092M	ENST00000413384	NM_003040.3	1092	aCg/aTg	0	T:0.0002	.	.	.	.	T	T/M	protein_coding	YES	CCDS5917.1	3275	MUTECT|MUSE	.	GGTGACGGGGC	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834	.	T:0	ENSP00000419412	.	20/23	.	.	.	.	.	.	.	.	rs370805035,COSM1087379	20/23	PASS	ENST00000485713	Transcript	.	.	ENSG00000164889	11028	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	B3A2_HUMAN	SLC4A2	HGNC	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN	.	UPI000013EFE9	SNV	SLC4A2,missense_variant,p.Thr1010Met,ENST00000310317,;SLC4A2,missense_variant,p.Thr1092Met,ENST00000413384,;SLC4A2,missense_variant,p.Thr1078Met,ENST00000461735,;SLC4A2,missense_variant,p.Thr1092Met,ENST00000485713,;SLC4A2,missense_variant,p.Thr1083Met,ENST00000392826,;FASTK,downstream_gene_variant,,ENST00000297532,;FASTK,downstream_gene_variant,,ENST00000353841,;FASTK,downstream_gene_variant,,ENST00000540185,;FASTK,downstream_gene_variant,,ENST00000482571,;RP11-148K1.12,intron_variant,,ENST00000485974,;SLC4A2,downstream_gene_variant,,ENST00000482697,;FASTK,downstream_gene_variant,,ENST00000478477,;FASTK,downstream_gene_variant,,ENST00000489884,;FASTK,downstream_gene_variant,,ENST00000496663,;FASTK,downstream_gene_variant,,ENST00000461979,;SLC4A2,downstream_gene_variant,,ENST00000472204,;SLC4A2,downstream_gene_variant,,ENST00000469355,;SLC4A2,downstream_gene_variant,,ENST00000460010,;SLC4A2,downstream_gene_variant,,ENST00000480107,;FASTK,downstream_gene_variant,,ENST00000460980,;FASTK,downstream_gene_variant,,ENST00000478883,;FASTK,downstream_gene_variant,,ENST00000482806,;SLC4A2,downstream_gene_variant,,ENST00000494298,;FASTK,downstream_gene_variant,,ENST00000459800,;FASTK,downstream_gene_variant,,ENST00000469237,;SLC4A2,upstream_gene_variant,,ENST00000469467,;FASTK,downstream_gene_variant,,ENST00000466855,;FASTK,downstream_gene_variant,,ENST00000483953,;FASTK,downstream_gene_variant,,ENST00000465272,;SLC4A2,downstream_gene_variant,,ENST00000493040,;FASTK,downstream_gene_variant,,ENST00000467237,;	4315	18	9	SUCCESS
FASTK	10922	.	GRCh37	7	150776623	150776623	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	91	240	0	ENST00000297532.6:c.469A>G	p.Thr157Ala	p.T157A	ENST00000297532	NM_006712.4	157	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS5918.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTGTGAA	NONE	.	.	hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF4	.	.	ENSP00000297532	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000297532	Transcript	.	.	ENSG00000164896	24676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	FASTK_HUMAN	FASTK	HGNC	.	.	UPI0000000CBA	SNV	FASTK,missense_variant,p.Thr123Ala,ENST00000540185,;FASTK,missense_variant,p.Thr157Ala,ENST00000297532,;FASTK,missense_variant,p.Thr157Ala,ENST00000482571,;FASTK,intron_variant,,ENST00000353841,;SLC4A2,downstream_gene_variant,,ENST00000413384,;TMUB1,downstream_gene_variant,,ENST00000392818,;SLC4A2,downstream_gene_variant,,ENST00000485713,;SLC4A2,downstream_gene_variant,,ENST00000392826,;TMUB1,downstream_gene_variant,,ENST00000492838,;TMUB1,downstream_gene_variant,,ENST00000488752,;TMUB1,downstream_gene_variant,,ENST00000297533,;SLC4A2,downstream_gene_variant,,ENST00000310317,;SLC4A2,downstream_gene_variant,,ENST00000461735,;TMUB1,downstream_gene_variant,,ENST00000482202,;TMUB1,downstream_gene_variant,,ENST00000462940,;TMUB1,downstream_gene_variant,,ENST00000476627,;RP11-148K1.12,upstream_gene_variant,,ENST00000485974,;FASTK,non_coding_transcript_exon_variant,,ENST00000496663,;FASTK,non_coding_transcript_exon_variant,,ENST00000478477,;FASTK,intron_variant,,ENST00000489884,;FASTK,intron_variant,,ENST00000461979,;FASTK,non_coding_transcript_exon_variant,,ENST00000482806,;FASTK,non_coding_transcript_exon_variant,,ENST00000467237,;FASTK,intron_variant,,ENST00000460980,;SLC4A2,downstream_gene_variant,,ENST00000472204,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000469237,;FASTK,upstream_gene_variant,,ENST00000459800,;SLC4A2,downstream_gene_variant,,ENST00000469467,;FASTK,upstream_gene_variant,,ENST00000465272,;	547	241	228	SUCCESS
SMARCD3	6604	.	GRCh37	7	150938679	150938679	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1195534343	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	63	0	ENST00000262188.8:c.838C>T	p.Arg280Cys	p.R280C	ENST00000262188	NM_001003801.1	280	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS34780.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGGCTCT	NONE	.	.	hmmpanther:PTHR13844:SF5,hmmpanther:PTHR13844,Gene3D:1.10.245.10,Pfam_domain:PF02201,SMART_domains:SM00151,Superfamily_domains:SSF47592	.	.	ENSP00000262188	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000262188	Transcript	.	.	ENSG00000082014	11108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SMRD3_HUMAN	SMARCD3	HGNC	.	.	UPI000022D4B4	SNV	SMARCD3,missense_variant,p.Arg280Cys,ENST00000262188,;SMARCD3,missense_variant,p.Arg267Cys,ENST00000392811,;SMARCD3,missense_variant,p.Arg267Cys,ENST00000356800,;CHPF2,downstream_gene_variant,,ENST00000035307,;SMARCD3,downstream_gene_variant,,ENST00000491651,;CHPF2,downstream_gene_variant,,ENST00000495645,;MIR671,downstream_gene_variant,,ENST00000390183,;RP4-548D19.3,downstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,upstream_gene_variant,,ENST00000496530,;SMARCD3,downstream_gene_variant,,ENST00000460431,;SMARCD3,3_prime_UTR_variant,,ENST00000485592,;SMARCD3,3_prime_UTR_variant,,ENST00000469154,;SMARCD3,non_coding_transcript_exon_variant,,ENST00000472988,;SMARCD3,non_coding_transcript_exon_variant,,ENST00000485610,;SMARCD3,upstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000472103,;CHPF2,downstream_gene_variant,,ENST00000465601,;SMARCD3,upstream_gene_variant,,ENST00000472789,;	1249	63	63	SUCCESS
RHEB	6009	.	GRCh37	7	151188049	151188049	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057519950	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	4	96	0	ENST00000262187.5:c.104A>G	p.Tyr35Cys	p.Y35C	ENST00000262187	NM_005614.3	35	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5927.1	104	MUTECT|MUSE	.	GATCGTAGGAG	BUFFER|p.Y35N|c.103T>A|5	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF204,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000262187	.	2/8	.	.	.	.	.	.	.	.	COSM1755180	2/8	PASS	ENST00000262187	Transcript	.	.	ENSG00000106615	10011	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	RHEB_HUMAN	RHEB	HGNC	C9J931_HUMAN	.	UPI0000133863	SNV	RHEB,missense_variant,p.Tyr35Cys,ENST00000262187,;RHEB,5_prime_UTR_variant,,ENST00000470370,;RHEB,5_prime_UTR_variant,,ENST00000472642,;RHEB,5_prime_UTR_variant,,ENST00000496004,;RHEB,3_prime_UTR_variant,,ENST00000478470,;	517	96	93	SUCCESS
INTS1	26173	.	GRCh37	7	1518116	1518116	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1466625171	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	136	235	0	ENST00000404767.3:c.4516G>A	p.Glu1506Lys	p.E1506K	ENST00000404767	NM_001080453.2	1506	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47526.1	4516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCGGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	.	.	ENSP00000385722	.	33/48	.	.	.	.	.	.	.	.	.	33/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.421)	.	deleterious_low_confidence(0)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Glu1506Lys,ENST00000404767,;INTS1,missense_variant,p.Glu1705Lys,ENST00000389470,;INTS1,upstream_gene_variant,,ENST00000482994,;INTS1,downstream_gene_variant,,ENST00000468115,;	4602	235	257	SUCCESS
LMBR1	64327	.	GRCh37	7	156521354	156521354	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	85	293	0	ENST00000353442.5:c.899T>G	p.Leu300Arg	p.L300R	ENST00000353442	NM_022458.3	300	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5945.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGAACC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12625:SF1,hmmpanther:PTHR12625,Pfam_domain:PF04791,Prints_domain:PR01692	.	.	ENSP00000326604	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000353442	Transcript	.	.	ENSG00000105983	13243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious(0.02)	.	LMBR1_HUMAN	LMBR1	HGNC	Q7LDY5_HUMAN	.	UPI000005340E	SNV	LMBR1,missense_variant,p.Leu148Arg,ENST00000359422,;LMBR1,missense_variant,p.Leu279Arg,ENST00000540390,;LMBR1,missense_variant,p.Leu339Arg,ENST00000415428,;LMBR1,missense_variant,p.Leu300Arg,ENST00000353442,;LMBR1,missense_variant,p.Leu341Arg,ENST00000354505,;LMBR1,non_coding_transcript_exon_variant,,ENST00000461603,;LMBR1,3_prime_UTR_variant,,ENST00000448926,;LMBR1,3_prime_UTR_variant,,ENST00000454132,;LMBR1,intron_variant,,ENST00000434503,;LMBR1,upstream_gene_variant,,ENST00000486837,;	1136	293	255	SUCCESS
DNAJB6	10049	.	GRCh37	7	157178449	157178449	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	6	61	0	ENST00000262177.4:c.691+144G>A		p.*231*	ENST00000262177	NM_058246.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5946.1	.	RADIA|MUTECT	.	TAATTGTACCT	NONE	.	.	.	.	.	ENSP00000262177	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262177	Transcript	.	.	ENSG00000105993	14888	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,3_prime_UTR_variant,,ENST00000429029,;DNAJB6,intron_variant,,ENST00000452797,;DNAJB6,intron_variant,,ENST00000262177,;DNAJB6,intron_variant,,ENST00000443280,;DNAJB6,downstream_gene_variant,,ENST00000417758,;DNAJB6,downstream_gene_variant,,ENST00000441561,;DNAJB6,downstream_gene_variant,,ENST00000412557,;DNAJB6,intron_variant,,ENST00000465908,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000487480,;DNAJB6,intron_variant,,ENST00000459889,;DNAJB6,downstream_gene_variant,,ENST00000441291,;DNAJB6,downstream_gene_variant,,ENST00000468928,;DNAJB6,downstream_gene_variant,,ENST00000486247,;	.	61	45	SUCCESS
ABCB5	340273	.	GRCh37	7	20671699	20671699	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	415	20	314	1	ENST00000404938.2:c.277A>G	p.Thr93Ala	p.T93A	ENST00000404938	NM_001163941.1	93	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS55090.1	277	MUTECT|MUSE	.	ACTGTACTCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50929,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000384881	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.14)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Thr93Ala,ENST00000404938,;	929	315	435	SUCCESS
AVL9	23080	.	GRCh37	7	32612909	32612909	+	synonymous_variant	Silent	SNP	C	C	T	rs772466800	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	112	163	0	ENST00000318709.4:c.1449C>T	p.His483=	p.H483=	ENST00000318709	NM_015060.1	483	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS34613.1	1449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACGTGAC	NONE	.	.	Pfam_domain:PF09794,hmmpanther:PTHR31017:SF1,hmmpanther:PTHR31017	.	.	ENSP00000315568	.	12/16	.	.	.	.	.	.	.	.	rs772466800	12/16	PASS	ENST00000318709	Transcript	.	.	ENSG00000105778	28994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVL9_HUMAN	AVL9	HGNC	.	.	UPI0000049D97	SNV	AVL9,synonymous_variant,p.%3D,ENST00000318709,;AVL9,synonymous_variant,p.%3D,ENST00000446718,;AVL9,synonymous_variant,p.%3D,ENST00000409301,;AVL9,intron_variant,,ENST00000404479,;	1670	163	196	SUCCESS
SEPT7	0	.	GRCh37	7	35913370	35913370	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	73	127	0	ENST00000399034.2:c.500C>A	p.Ala167Asp	p.A167D	ENST00000399034		167	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	.	500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCTCCTT	NONE	.	.	PROSITE_profiles:PS51719,hmmpanther:PTHR18884,Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540	.	.	ENSP00000381992	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000399034	Transcript	.	.	ENSG00000122545	1717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	tolerated(0.08)	.	SEPT7_HUMAN	SEPT7	HGNC	Q5JXL7_HUMAN,G3V1Q4_HUMAN	.	UPI0000D61C26	SNV	SEPT7,missense_variant,p.Ala165Asp,ENST00000469679,;SEPT7,missense_variant,p.Ala165Asp,ENST00000350320,;SEPT7,missense_variant,p.Ala167Asp,ENST00000399034,;SEPT7,missense_variant,p.Ala165Asp,ENST00000399035,;SEPT7,missense_variant,p.Ala152Asp,ENST00000494488,;SEPT7,missense_variant,p.Ala113Asp,ENST00000435235,;SEPT7,non_coding_transcript_exon_variant,,ENST00000475109,;SEPT7,missense_variant,p.Ala144Asp,ENST00000425198,;SEPT7,non_coding_transcript_exon_variant,,ENST00000473201,;	693	127	202	SUCCESS
KIAA0895	23366	.	GRCh37	7	36396417	36396417	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	55	0	ENST00000297063.6:c.867+94T>A		p.*289*	ENST00000297063	NM_001100425.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43570.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGAATATT	NONE	.	.	.	.	.	ENSP00000297063	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297063	Transcript	.	.	ENSG00000164542	22206	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K0895_HUMAN	KIAA0895	HGNC	.	.	UPI000013E3C0	SNV	KIAA0895,3_prime_UTR_variant,,ENST00000415803,;KIAA0895,intron_variant,,ENST00000436884,;KIAA0895,intron_variant,,ENST00000317020,;KIAA0895,intron_variant,,ENST00000297063,;KIAA0895,intron_variant,,ENST00000431396,;KIAA0895,intron_variant,,ENST00000440378,;KIAA0895,intron_variant,,ENST00000338533,;KIAA0895,intron_variant,,ENST00000453212,;KIAA0895,downstream_gene_variant,,ENST00000429651,;KIAA0895,intron_variant,,ENST00000480192,;KIAA0895,intron_variant,,ENST00000483360,;KIAA0895,intron_variant,,ENST00000483526,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000493327,;	.	55	63	SUCCESS
RALA	5898	.	GRCh37	7	39736429	39736429	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	351	10	279	0	ENST00000005257.2:c.469T>A	p.Ser157Thr	p.S157T	ENST00000005257	NM_005402.3	157	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS5460.1	469	MUTECT|MUSE	.	AAACATCTGCT	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00175,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF174,hmmpanther:PTHR24070,PROSITE_profiles:PS51421,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000005257	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000005257	Transcript	.	.	ENSG00000006451	9839	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	RALA_HUMAN	RALA	HGNC	C9JPE8_HUMAN	.	UPI0000001C8F	SNV	RALA,missense_variant,p.Ser157Thr,ENST00000005257,;AC004837.5,downstream_gene_variant,,ENST00000435766,;RALA,non_coding_transcript_exon_variant,,ENST00000468201,;RALA,upstream_gene_variant,,ENST00000466491,;RALA,missense_variant,p.Ser151Thr,ENST00000434466,;	849	280	362	SUCCESS
HECW1	23072	.	GRCh37	7	43485108	43485108	+	synonymous_variant	Silent	SNP	C	C	T	rs1405252209	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	7	263	0	ENST00000395891.2:c.2337C>T	p.His779=	p.H779=	ENST00000395891	NM_015052.3	779	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS5469.2	2337	MUTECT|MUSE	.	GGGCACGTGGA	NONE	.	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,synonymous_variant,p.%3D,ENST00000453890,;HECW1,synonymous_variant,p.%3D,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2942	263	214	SUCCESS
STK17A	9263	.	GRCh37	7	43664380	43664380	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764280193	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	153	0	ENST00000319357.5:c.1184C>T	p.Ser395Phe	p.S395F	ENST00000319357	NM_004760.2	395	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS5470.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCCAAAC	NONE	.	.	hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF6	.	.	ENSP00000319192	.	7/7	.	.	.	.	.	.	.	.	rs764280193	7/7	PASS	ENST00000319357	Transcript	.	.	ENSG00000164543	11395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	ST17A_HUMAN	STK17A	HGNC	Q86UI9_HUMAN,Q75MK4_HUMAN	.	UPI00001405A1	SNV	STK17A,missense_variant,p.Ser395Phe,ENST00000319357,;STK17A,non_coding_transcript_exon_variant,,ENST00000474211,;COA1,intron_variant,,ENST00000415076,;COA1,intron_variant,,ENST00000446564,;COA1,intron_variant,,ENST00000446330,;	1363	153	109	SUCCESS
ADCY1	107	.	GRCh37	7	45632443	45632443	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs75000917	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	71	147	0	ENST00000297323.7:c.725C>T	p.Ala242Val	p.A242V	ENST00000297323	NM_021116.2	242	gCg/gTg	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS34631.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCGTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920	.	T:0.0012	ENSP00000297323	.	2/20	.	.	.	.	.	.	.	.	rs75000917,COSM268488	2/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.03)	.	tolerated(0.08)	0,1	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,missense_variant,p.Ala17Val,ENST00000432715,;ADCY1,missense_variant,p.Ala242Val,ENST00000297323,;	747	147	143	SUCCESS
ADCY1	107	.	GRCh37	7	45743231	45743231	+	synonymous_variant	Silent	SNP	C	C	T	rs138836914	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	44	150	0	ENST00000297323.7:c.2604C>T	p.Gly868=	p.G868=	ENST00000297323	NM_021116.2	868	ggC/ggT	0	T:0	.	.	.	.	T	G	protein_coding	YES	CCDS34631.1	2604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGTCAT	NONE	byCluster	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	T:0.0001	ENSP00000297323	.	16/20	.	.	.	.	.	.	.	.	rs138836914	16/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,synonymous_variant,p.%3D,ENST00000297323,;	2626	150	135	SUCCESS
SEPT7P2	0	.	GRCh37	7	45797666	45797666	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	76	200	0	ENST00000429741.1:n.507A>G		p.*169*	ENST00000429741				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGTATAAA	NONE	.	.	.	.	.	.	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000429741	Transcript	.	.	ENSG00000214765	32339	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SEPT7P2	HGNC	.	.	.	SNV	SEPT7P2,non_coding_transcript_exon_variant,,ENST00000338231,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000428414,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000429741,;SEPT7P2,downstream_gene_variant,,ENST00000450436,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000428867,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000398921,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000443269,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000417129,;	507	200	187	SUCCESS
AP5Z1	9907	.	GRCh37	7	4825084	4825084	+	splice_donor_variant	Splice_Site	SNP	G	G	C	rs755094633	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	93	0	ENST00000348624.4:c.969+1G>C		p.X323_splice	ENST00000348624	NM_014855.2	323		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47528.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGTAAGT	NONE	.	.	.	.	.	ENSP00000297562	.	.	.	.	.	.	.	.	.	.	rs755094633	.	PASS	ENST00000348624	Transcript	.	.	ENSG00000242802	22197	.	.	HIGH	8/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP5Z1_HUMAN	AP5Z1	HGNC	A4D1Z4_HUMAN	.	UPI00003E5903	SNV	AP5Z1,splice_donor_variant,,ENST00000348624,;AP5Z1,splice_donor_variant,,ENST00000401897,;MIR4656,downstream_gene_variant,,ENST00000579503,;AP5Z1,upstream_gene_variant,,ENST00000490487,;AP5Z1,splice_donor_variant,,ENST00000477680,;AP5Z1,splice_donor_variant,,ENST00000496303,;AP5Z1,upstream_gene_variant,,ENST00000477454,;AP5Z1,downstream_gene_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000469614,;	.	93	113	SUCCESS
IKZF1	10320	.	GRCh37	7	50467747	50467747	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	51	109	0	ENST00000331340.3:c.982C>T	p.Arg328Cys	p.R328C	ENST00000331340	NM_006060.4	328	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS59055.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCGCCCG	CODON|p.?|c.161-?_1560+?del|29	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23	.	.	ENSP00000413025	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.Arg328Cys,ENST00000331340,;IKZF1,missense_variant,p.Arg185Cys,ENST00000349824,;IKZF1,missense_variant,p.Arg241Cys,ENST00000343574,;IKZF1,missense_variant,p.Arg98Cys,ENST00000346667,;IKZF1,missense_variant,p.Arg241Cys,ENST00000357364,;IKZF1,missense_variant,p.Arg241Cys,ENST00000438033,;IKZF1,missense_variant,p.Arg286Cys,ENST00000359197,;IKZF1,missense_variant,p.Arg286Cys,ENST00000439701,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	1055	109	127	SUCCESS
COBL	23242	.	GRCh37	7	51095511	51095511	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs1562810271	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	49	196	0	ENST00000265136.7:c.3282del	p.Lys1094AsnfsTer20	p.K1094Nfs*20	ENST00000265136	NM_015198.3	1094	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS34637.1	3282	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGAATTTTTT	NONE	.	.	hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	.	.	ENSP00000265136	.	10/13	.	.	.	.	.	.	.	.	COSM1451374	10/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	deletion	COBL,frameshift_variant,p.Lys979AsnfsTer20,ENST00000431948,;COBL,frameshift_variant,p.Lys1094AsnfsTer20,ENST00000265136,;COBL,frameshift_variant,p.Lys1176AsnfsTer20,ENST00000395542,;COBL,frameshift_variant,p.Lys986AsnfsTer20,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;RP4-724E13.2,downstream_gene_variant,,ENST00000582616,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	3448	196	198	SUCCESS
POM121L12	285877	.	GRCh37	7	53103947	53103947	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	65	0	ENST00000408890.4:c.583C>T	p.Pro195Ser	p.P195S	ENST00000408890	NM_182595.3	195	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43584.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGCCGTTG	BUFFER|p.F198F|c.594C>T|6	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25,Pfam_domain:PF15229	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	COSM1451412	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.932)	.	deleterious(0.02)	1	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Pro195Ser,ENST00000408890,;	599	65	56	SUCCESS
AIMP2	7965	.	GRCh37	7	6054890	6054890	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	64	172	0	ENST00000223029.3:c.249A>C	p.Pro83=	p.P83=	ENST00000223029	NM_006303.3	83	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5344.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGATGC	NONE	.	.	hmmpanther:PTHR13438,hmmpanther:PTHR13438:SF2	.	.	ENSP00000223029	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000223029	Transcript	.	.	ENSG00000106305	20609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIMP2_HUMAN	AIMP2	HGNC	A8MU58_HUMAN	.	UPI000012ED59	SNV	AIMP2,synonymous_variant,p.%3D,ENST00000400479,;AIMP2,synonymous_variant,p.%3D,ENST00000223029,;AIMP2,intron_variant,,ENST00000395236,;SNORA42,upstream_gene_variant,,ENST00000384488,;AIMP2,downstream_gene_variant,,ENST00000415999,;	368	172	208	SUCCESS
PRKAR1B	5575	.	GRCh37	7	618965	618965	+	synonymous_variant	Silent	SNP	G	G	T	rs199622718	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	94	0	ENST00000360274.4:c.819C>A	p.Pro273=	p.P273=	ENST00000360274	NM_002735.2	273	ccC/ccA	0	A:0	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS34579.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGGGCTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635:SF126,hmmpanther:PTHR11635,Gene3D:2.60.120.10,PIRSF_domain:PIRSF000548,SMART_domains:SM00100,Superfamily_domains:SSF51206	A:0	A:0.0005	ENSP00000385749	A:0.001	9/11	.	.	.	.	.	.	.	.	rs199622718	9/11	PASS	ENST00000406797	Transcript	.	A:0.0002	ENSG00000188191	9390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	KAP1_HUMAN	PRKAR1B	HGNC	C9JSK5_HUMAN,C9J4C2_HUMAN,C9IZL8_HUMAN	.	UPI000021C478	SNV	PRKAR1B,synonymous_variant,p.%3D,ENST00000403562,;PRKAR1B,synonymous_variant,p.%3D,ENST00000406797,;PRKAR1B,synonymous_variant,p.%3D,ENST00000544935,;PRKAR1B,synonymous_variant,p.%3D,ENST00000400758,;PRKAR1B,synonymous_variant,p.%3D,ENST00000430040,;PRKAR1B,synonymous_variant,p.%3D,ENST00000360274,;PRKAR1B,synonymous_variant,p.%3D,ENST00000537384,;	994	94	122	SUCCESS
GUSB	2990	.	GRCh37	7	65426023	65426023	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	52	0	ENST00000304895.4:c.1817del	p.Lys606ArgfsTer34	p.K606Rfs*34	ENST00000304895	NM_000181.3	606	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS5530.1	1817	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCCCTTTTTA	NONE	.	.	hmmpanther:PTHR10066:SF51,hmmpanther:PTHR10066,Pfam_domain:PF02836,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000302728	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000304895	Transcript	.	.	ENSG00000169919	4696	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BGLR_HUMAN	GUSB	HGNC	.	.	UPI000013E9E0	deletion	GUSB,frameshift_variant,p.Lys555ArgfsTer34,ENST00000345660,;GUSB,frameshift_variant,p.Lys606ArgfsTer34,ENST00000304895,;GUSB,frameshift_variant,p.Lys460ArgfsTer34,ENST00000421103,;VKORC1L1,downstream_gene_variant,,ENST00000360768,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,non_coding_transcript_exon_variant,,ENST00000466883,;GUSB,downstream_gene_variant,,ENST00000462371,;GUSB,downstream_gene_variant,,ENST00000461622,;	1948	52	69	SUCCESS
GUSB	2990	.	GRCh37	7	65440028	65440028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	111	0	ENST00000304895.4:c.943C>A	p.Pro315Thr	p.P315T	ENST00000304895	NM_000181.3	315	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS5530.1	943	RADIA|MUTECT|MUSE	.	CACAGGCCCCA	NONE	.	.	hmmpanther:PTHR10066:SF51,hmmpanther:PTHR10066,Gene3D:2.60.40.320,Pfam_domain:PF00703,Superfamily_domains:SSF49303	.	.	ENSP00000302728	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000304895	Transcript	.	.	ENSG00000169919	4696	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.61)	.	BGLR_HUMAN	GUSB	HGNC	.	.	UPI000013E9E0	SNV	GUSB,missense_variant,p.Pro315Thr,ENST00000304895,;GUSB,missense_variant,p.Pro169Thr,ENST00000421103,;GUSB,intron_variant,,ENST00000345660,;GUSB,non_coding_transcript_exon_variant,,ENST00000476486,;GUSB,intron_variant,,ENST00000465785,;GUSB,intron_variant,,ENST00000475316,;GUSB,intron_variant,,ENST00000479038,;GUSB,downstream_gene_variant,,ENST00000478118,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,non_coding_transcript_exon_variant,,ENST00000466883,;GUSB,upstream_gene_variant,,ENST00000462371,;GUSB,downstream_gene_variant,,ENST00000446111,;GUSB,upstream_gene_variant,,ENST00000489482,;	1074	111	75	SUCCESS
AUTS2	26053	.	GRCh37	7	69064574	69064574	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	32	0	ENST00000342771.4:c.-66T>C		p.*22*	ENST00000342771	NM_015570.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5539.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTTTTTTT	NONE	.	.	.	.	.	ENSP00000344087	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,5_prime_UTR_variant,,ENST00000342771,;AUTS2,5_prime_UTR_variant,,ENST00000406775,;AUTS2,upstream_gene_variant,,ENST00000403018,;RP5-942I16.1,upstream_gene_variant,,ENST00000436600,;	256	32	39	SUCCESS
AUTS2	26053	.	GRCh37	7	70254962	70254962	+	synonymous_variant	Silent	SNP	C	C	T	rs1469423323	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	34	105	0	ENST00000342771.4:c.2760C>T	p.Asp920=	p.D920=	ENST00000342771	NM_015570.2	920	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS5539.1	2760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACGGGCA	NONE	.	.	hmmpanther:PTHR14429:SF5,hmmpanther:PTHR14429	.	.	ENSP00000344087	.	19/19	.	.	.	.	.	.	.	.	COSM3394864	19/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,synonymous_variant,p.%3D,ENST00000342771,;AUTS2,synonymous_variant,p.%3D,ENST00000406775,;AUTS2,downstream_gene_variant,,ENST00000418686,;AUTS2,3_prime_UTR_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000439256,;AUTS2,downstream_gene_variant,,ENST00000498384,;	3081	105	87	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72658529	72658529	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	245	190	540	0	ENST00000425256.1:n.1383T>A		p.*461*	ENST00000425256				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGATTTTT	NONE	.	.	.	.	.	.	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,downstream_gene_variant,,ENST00000449689,;	1383	540	435	SUCCESS
DTX2	113878	.	GRCh37	7	76131756	76131756	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	121	0	ENST00000324432.5:c.1372T>C	p.Tyr458His	p.Y458H	ENST00000324432	NM_020892.2	458	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS5587.1	1372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTACTGC	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Gene3D:3.30.40.10,Pfam_domain:PF00097,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21,PROSITE_profiles:PS50089	.	.	ENSP00000322885	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000324432	Transcript	.	.	ENSG00000091073	15973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	DTX2_HUMAN	DTX2	HGNC	Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN	.	UPI00001413A2	SNV	DTX2,missense_variant,p.Tyr367His,ENST00000446600,;DTX2,missense_variant,p.Tyr411His,ENST00000307569,;DTX2,missense_variant,p.Tyr458His,ENST00000324432,;DTX2,missense_variant,p.Tyr458His,ENST00000430490,;DTX2,missense_variant,p.Tyr458His,ENST00000413936,;DTX2,missense_variant,p.Tyr411His,ENST00000446820,;DTX2,3_prime_UTR_variant,,ENST00000435251,;DTX2,non_coding_transcript_exon_variant,,ENST00000467729,;DTX2,non_coding_transcript_exon_variant,,ENST00000479915,;DTX2,non_coding_transcript_exon_variant,,ENST00000468546,;DTX2,upstream_gene_variant,,ENST00000465488,;	1882	121	97	SUCCESS
UPK3B	105375355	.	GRCh37	7	76140138	76140139	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs764199566	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	167	51	157	0	ENST00000257632.5:c.175dup	p.Leu59ProfsTer88	p.L59Pfs*88	ENST00000257632		57	gcc/gCcc	0	.	.	.	.	.	C	A/AX	protein_coding	YES	CCDS5588.1	169-170	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCCCGCCCCC	NONE	.	.	hmmpanther:PTHR15446,hmmpanther:PTHR15446:SF16	.	.	ENSP00000441602	.	1/6	.	.	.	.	.	.	.	.	rs764199566	1/6	PASS	ENST00000419923	Transcript	.	.	ENSG00000243566	21444	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UPK3B_HUMAN	UPK3B	HGNC	.	.	UPI00001AE7A4	insertion	UPK3B,frameshift_variant,p.Leu59ProfsTer88,ENST00000419923,;UPK3B,frameshift_variant,p.Leu59ProfsTer88,ENST00000257632,;UPK3B,frameshift_variant,p.Leu59ProfsTer88,ENST00000448265,;UPK3B,intron_variant,,ENST00000334348,;UPK3B,intron_variant,,ENST00000394849,;UPK3B,intron_variant,,ENST00000443097,;DTX2,downstream_gene_variant,,ENST00000446600,;DTX2,downstream_gene_variant,,ENST00000307569,;DTX2,downstream_gene_variant,,ENST00000324432,;DTX2,downstream_gene_variant,,ENST00000413936,;DTX2,downstream_gene_variant,,ENST00000430490,;UPK3B,non_coding_transcript_exon_variant,,ENST00000490360,;DTX2,downstream_gene_variant,,ENST00000465488,;UPK3B,upstream_gene_variant,,ENST00000469114,;DTX2,downstream_gene_variant,,ENST00000468546,;DTX2,downstream_gene_variant,,ENST00000479915,;	394-395	157	218	SUCCESS
HGF	3082	.	GRCh37	7	81381292	81381292	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	18	0	ENST00000222390.5:c.625+144T>C		p.*209*	ENST00000222390	NM_000601.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5597.1	.	MUTECT|MUSE	.	ATAAAAATGTT	NONE	.	.	.	.	.	ENSP00000222390	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODIFIER	5/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,3_prime_UTR_variant,,ENST00000423064,;HGF,intron_variant,,ENST00000453411,;HGF,intron_variant,,ENST00000457544,;HGF,intron_variant,,ENST00000222390,;HGF,intron_variant,,ENST00000444829,;HGF,downstream_gene_variant,,ENST00000354224,;HGF,non_coding_transcript_exon_variant,,ENST00000465234,;	.	18	20	SUCCESS
CACNA2D1	781	.	GRCh37	7	81579773	81579773	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	33	105	0	ENST00000356253.5:c.3247T>C	p.Tyr1083His	p.Y1083H	ENST00000356253		1083	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS5598.1	3211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATACCACA	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.54)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Tyr1083His,ENST00000356253,;CACNA2D1,missense_variant,p.Tyr1071His,ENST00000356860,;CACNA2D1,missense_variant,p.Tyr283His,ENST00000535308,;	3550	105	101	SUCCESS
CACNA2D1	781	.	GRCh37	7	81600100	81600100	+	intron_variant	Intron	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	72	0	ENST00000356253.5:c.2178-47del		p.*726*	ENST00000356253				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5598.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATTCTAAAAAA	NONE	.	.	.	.	.	ENSP00000349320	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODIFIER	26/38	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	deletion	CACNA2D1,5_prime_UTR_variant,,ENST00000535308,;CACNA2D1,intron_variant,,ENST00000356253,;CACNA2D1,intron_variant,,ENST00000443883,;CACNA2D1,intron_variant,,ENST00000356860,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000486539,;	.	72	92	SUCCESS
DMTF1	9988	.	GRCh37	7	86811354	86811354	+	intron_variant	Intron	DEL	T	T	-	rs576796206	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	18	0	ENST00000331242.7:c.711-182del		p.*237*	ENST00000331242	NM_001142326.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5601.1	.	INDELOCATOR|VARSCANI	.	TGCCTGTTTTTT	NONE	.	.	.	.	.	ENSP00000378193	.	.	.	.	.	.	.	.	.	.	rs765921703	.	PASS	ENST00000394703	Transcript	.	.	ENSG00000135164	14603	8	.	MODIFIER	11/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMTF1_HUMAN	DMTF1	HGNC	J3KRC1_HUMAN,D6W5P0_HUMAN,C9K0L9_HUMAN,C9K0K9_HUMAN,C9JZZ6_HUMAN,C9JVQ7_HUMAN,C9JLR5_HUMAN,C9JGT5_HUMAN,C9JFR2_HUMAN,C9JED5_HUMAN,C9J8Y5_HUMAN,C9J4F7_HUMAN,B3KVS2_HUMAN	.	UPI000006FB78	deletion	DMTF1,frameshift_variant,p.Phe206SerfsTer41,ENST00000411766,;DMTF1,frameshift_variant,p.Phe247SerfsTer?,ENST00000394702,;DMTF1,intron_variant,,ENST00000394703,;DMTF1,intron_variant,,ENST00000414194,;DMTF1,intron_variant,,ENST00000432937,;DMTF1,intron_variant,,ENST00000413276,;DMTF1,intron_variant,,ENST00000331242,;DMTF1,downstream_gene_variant,,ENST00000430405,;DMTF1,downstream_gene_variant,,ENST00000425705,;DMTF1,frameshift_variant,p.Phe247SerfsTer41,ENST00000447863,;DMTF1,frameshift_variant,p.Phe206SerfsTer41,ENST00000425406,;DMTF1,intron_variant,,ENST00000412139,;DMTF1,intron_variant,,ENST00000579850,;DMTF1,intron_variant,,ENST00000579677,;DMTF1,intron_variant,,ENST00000473521,;DMTF1,intron_variant,,ENST00000547146,;DMTF1,intron_variant,,ENST00000584619,;DMTF1,upstream_gene_variant,,ENST00000480982,;DMTF1,upstream_gene_variant,,ENST00000578926,;DMTF1,upstream_gene_variant,,ENST00000582887,;	.	18	14	SUCCESS
ZNF804B	219578	.	GRCh37	7	88963555	88963555	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	4	115	0	ENST00000333190.4:c.1259T>C	p.Val420Ala	p.V420A	ENST00000333190	NM_181646.2	420	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS5613.1	1259	MUTECT|MUSE	.	AAGAGTTAGCA	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.15)	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Val420Ala,ENST00000333190,;	1868	115	106	SUCCESS
CCDC132	0	.	GRCh37	7	92970851	92970851	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	6	123	0	ENST00000305866.5:c.2171A>G	p.Tyr724Cys	p.Y724C	ENST00000305866	NM_017667.3	724	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS43617.1	2171	MUTECT|MUSE	.	GCTGTATGGGT	NONE	.	.	hmmpanther:PTHR13258,Pfam_domain:PF10474	.	.	ENSP00000307666	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000305866	Transcript	.	.	ENSG00000004766	25956	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	tolerated(0.14)	.	CC132_HUMAN	CCDC132	HGNC	A7MD03_HUMAN	.	UPI000015F998	SNV	CCDC132,missense_variant,p.Tyr724Cys,ENST00000305866,;CCDC132,missense_variant,p.Tyr694Cys,ENST00000544910,;CCDC132,missense_variant,p.Tyr444Cys,ENST00000535481,;CCDC132,missense_variant,p.Tyr535Cys,ENST00000541136,;CCDC132,non_coding_transcript_exon_variant,,ENST00000474412,;CCDC132,downstream_gene_variant,,ENST00000467326,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;CCDC132,non_coding_transcript_exon_variant,,ENST00000480943,;	2299	123	129	SUCCESS
LMTK2	22853	.	GRCh37	7	97833453	97833453	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	38	0	ENST00000297293.5:c.4438A>T	p.Ser1480Cys	p.S1480C	ENST00000297293	NM_014916.3	1480	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS5654.1	4438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCAGCTTT	NONE	.	.	.	.	.	ENSP00000297293	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000297293	Transcript	.	.	ENSG00000164715	17880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LMTK2_HUMAN	LMTK2	HGNC	.	.	UPI000014F277	SNV	LMTK2,missense_variant,p.Ser1480Cys,ENST00000297293,;	4731	38	22	SUCCESS
BAIAP2L1	55971	.	GRCh37	7	97946608	97946608	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	126	0	ENST00000005260.8:c.409C>A	p.Gln137Lys	p.Q137K	ENST00000005260	NM_018842.4	137	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34687.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGGGATT	NONE	.	.	Superfamily_domains:SSF103657,Gene3D:1y2oA00,Pfam_domain:PF08397,hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF4,PROSITE_profiles:PS51338,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000005260	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000005260	Transcript	.	.	ENSG00000006453	21649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.08)	.	BI2L1_HUMAN	BAIAP2L1	HGNC	.	.	UPI0000035DA9	SNV	BAIAP2L1,missense_variant,p.Gln137Lys,ENST00000005260,;BAIAP2L1,non_coding_transcript_exon_variant,,ENST00000462558,;BAIAP2L1,non_coding_transcript_exon_variant,,ENST00000473569,;	625	126	79	SUCCESS
TAF6	6878	.	GRCh37	7	99706132	99706132	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766556536	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	77	0	ENST00000344095.4:c.1316G>A	p.Arg439His	p.R439H	ENST00000344095	NM_005641.3	439	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS55135.1	1427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR10221,hmmpanther:PTHR10221:SF10	.	.	ENSP00000399982	.	13/15	.	.	.	.	.	.	.	.	rs766556536	13/15	PASS	ENST00000437822	Transcript	.	.	ENSG00000106290	11540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.12)	.	TAF6_HUMAN	TAF6	HGNC	C9JTY6_HUMAN,C9JIS2_HUMAN,C9JHQ8_HUMAN,C9J7C4_HUMAN,A4D299_HUMAN	.	UPI00017A7AA3	SNV	TAF6,missense_variant,p.Arg476His,ENST00000437822,;TAF6,missense_variant,p.Arg439His,ENST00000452041,;TAF6,missense_variant,p.Arg439His,ENST00000344095,;TAF6,missense_variant,p.Arg363His,ENST00000418432,;TAF6,missense_variant,p.Arg439His,ENST00000453269,;TAF6,missense_variant,p.Arg496His,ENST00000472509,;AP4M1,intron_variant,,ENST00000450807,;AP4M1,intron_variant,,ENST00000421755,;TAF6,downstream_gene_variant,,ENST00000449571,;AP4M1,downstream_gene_variant,,ENST00000422582,;AP4M1,downstream_gene_variant,,ENST00000359593,;TAF6,downstream_gene_variant,,ENST00000523306,;AP4M1,downstream_gene_variant,,ENST00000438383,;AP4M1,downstream_gene_variant,,ENST00000429084,;AP4M1,downstream_gene_variant,,ENST00000439416,;AP4M1,downstream_gene_variant,,ENST00000445295,;TAF6,downstream_gene_variant,,ENST00000440225,;TAF6,downstream_gene_variant,,ENST00000452438,;TAF6,downstream_gene_variant,,ENST00000493322,;AP4M1,3_prime_UTR_variant,,ENST00000416938,;TAF6,3_prime_UTR_variant,,ENST00000421980,;AP4M1,downstream_gene_variant,,ENST00000446007,;AP4M1,downstream_gene_variant,,ENST00000445208,;AP4M1,downstream_gene_variant,,ENST00000463195,;AP4M1,downstream_gene_variant,,ENST00000394061,;TAF6,downstream_gene_variant,,ENST00000487115,;TAF6,downstream_gene_variant,,ENST00000487288,;AP4M1,downstream_gene_variant,,ENST00000479916,;AP4M1,downstream_gene_variant,,ENST00000489387,;	1522	77	91	SUCCESS
CNPY4	245812	.	GRCh37	7	99720163	99720163	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	52	95	0	ENST00000262932.3:c.305T>C	p.Val102Ala	p.V102A	ENST00000262932	NM_152755.1	102	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS34701.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGTTCACG	NONE	.	.	hmmpanther:PTHR15382:SF3,hmmpanther:PTHR15382,Pfam_domain:PF11938	.	.	ENSP00000262932	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000262932	Transcript	.	.	ENSG00000166997	28631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0)	.	CNPY4_HUMAN	CNPY4	HGNC	.	.	UPI000003B115	SNV	CNPY4,missense_variant,p.Val102Ala,ENST00000262932,;MBLAC1,upstream_gene_variant,,ENST00000398075,;TAF6,upstream_gene_variant,,ENST00000449571,;TAF6,upstream_gene_variant,,ENST00000431404,;TAF6,upstream_gene_variant,,ENST00000437822,;TAF6,upstream_gene_variant,,ENST00000523306,;TAF6,upstream_gene_variant,,ENST00000451699,;TAF6,upstream_gene_variant,,ENST00000452041,;TAF6,upstream_gene_variant,,ENST00000417349,;TAF6,upstream_gene_variant,,ENST00000344095,;TAF6,upstream_gene_variant,,ENST00000418432,;TAF6,upstream_gene_variant,,ENST00000453269,;MBLAC1,upstream_gene_variant,,ENST00000421390,;TAF6,upstream_gene_variant,,ENST00000440225,;TAF6,upstream_gene_variant,,ENST00000493322,;TAF6,upstream_gene_variant,,ENST00000452438,;TAF6,upstream_gene_variant,,ENST00000520135,;TAF6,upstream_gene_variant,,ENST00000460673,;RP11-506M12.1,intron_variant,,ENST00000494221,;CNPY4,non_coding_transcript_exon_variant,,ENST00000480692,;CNPY4,non_coding_transcript_exon_variant,,ENST00000483756,;CNPY4,downstream_gene_variant,,ENST00000470153,;TAF6,upstream_gene_variant,,ENST00000497233,;CNPY4,non_coding_transcript_exon_variant,,ENST00000462193,;TAF6,upstream_gene_variant,,ENST00000421980,;TAF6,upstream_gene_variant,,ENST00000487288,;	437	95	109	SUCCESS
GPC2	221914	.	GRCh37	7	99769524	99769525	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs748011069	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	64	0	ENST00000292377.2:c.1047dup	p.Asp350ArgfsTer148	p.D350Rfs*148	ENST00000292377	NM_152742.1	349	-/C	0	G:0.004	.	.	.	.	G	-/X	protein_coding	YES	CCDS5689.1	1047-1048	INDELOCATOR|VARSCANI	.	CGGGTCGGGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF24	.	G:0.0032	ENSP00000292377	.	7/10	.	.	.	.	.	.	.	.	rs748011069	7/10	PASS	ENST00000292377	Transcript	.	.	ENSG00000213420	4450	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPC2_HUMAN	GPC2	HGNC	.	.	UPI000005340D	insertion	GPC2,frameshift_variant,p.Asp350ArgfsTer148,ENST00000292377,;GAL3ST4,upstream_gene_variant,,ENST00000413800,;GAL3ST4,upstream_gene_variant,,ENST00000423751,;GAL3ST4,upstream_gene_variant,,ENST00000360039,;GAL3ST4,upstream_gene_variant,,ENST00000426974,;GAL3ST4,upstream_gene_variant,,ENST00000411994,;GPC2,non_coding_transcript_exon_variant,,ENST00000471050,;GAL3ST4,upstream_gene_variant,,ENST00000460995,;GPC2,downstream_gene_variant,,ENST00000482569,;GAL3ST4,upstream_gene_variant,,ENST00000482469,;GPC2,downstream_gene_variant,,ENST00000480087,;GAL3ST4,upstream_gene_variant,,ENST00000498000,;GPC2,non_coding_transcript_exon_variant,,ENST00000490629,;GPC2,non_coding_transcript_exon_variant,,ENST00000486702,;GPC2,downstream_gene_variant,,ENST00000471717,;GAL3ST4,upstream_gene_variant,,ENST00000495882,;	1215-1216	65	49	SUCCESS
CTHRC1	115908	.	GRCh37	8	104394725	104394725	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	142	0	ENST00000330295.5:c.629A>T	p.Asp210Val	p.D210V	ENST00000330295	NM_138455.3	210	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6299.1	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGATGTTG	NONE	.	.	hmmpanther:PTHR24637,hmmpanther:PTHR24637:SF208	.	.	ENSP00000330523	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330295	Transcript	1	.	ENSG00000164932	18831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	CTHR1_HUMAN	CTHRC1	HGNC	E5RK99_HUMAN	.	UPI0000073CB3	SNV	CTHRC1,missense_variant,p.Asp80Val,ENST00000520880,;CTHRC1,missense_variant,p.Asp210Val,ENST00000330295,;CTHRC1,missense_variant,p.Asp196Val,ENST00000520337,;RP11-1C8.6,downstream_gene_variant,,ENST00000577199,;RNU6-1011P,upstream_gene_variant,,ENST00000384668,;	771	142	112	SUCCESS
DCAF13	25879	.	GRCh37	8	104427455	104427455	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	79	160	1	ENST00000297579.5:c.237A>G	p.Gly79=	p.G79=	ENST00000297579	NM_015420.6	79	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS34934.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGACGCGG	NONE	.	.	.	.	.	ENSP00000297579	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000297579	Transcript	.	.	ENSG00000164934	24535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCA13_HUMAN	DCAF13	HGNC	.	.	UPI0000DBEF2A	SNV	DCAF13,synonymous_variant,p.%3D,ENST00000297579,;DCAF13,upstream_gene_variant,,ENST00000521971,;DCAF13,upstream_gene_variant,,ENST00000519682,;DCAF13,upstream_gene_variant,,ENST00000521716,;SLC25A32,upstream_gene_variant,,ENST00000297578,;SLC25A32,upstream_gene_variant,,ENST00000543107,;DCAF13,upstream_gene_variant,,ENST00000521999,;SLC25A32,upstream_gene_variant,,ENST00000521645,;SLC25A32,upstream_gene_variant,,ENST00000523256,;SLC25A32,upstream_gene_variant,,ENST00000523866,;DCAF13,upstream_gene_variant,,ENST00000518554,;	514	161	183	SUCCESS
DCAF13	25879	.	GRCh37	8	104447934	104447934	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750926513	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	42	0	ENST00000297579.5:c.1322A>G	p.Asp441Gly	p.D441G	ENST00000297579	NM_015420.6	441	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS34934.1	1322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGATTACT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22851:SF0,hmmpanther:PTHR22851,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000297579	.	8/11	.	.	.	.	.	.	.	.	rs750926513	8/11	PASS	ENST00000297579	Transcript	.	.	ENSG00000164934	24535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.525)	.	deleterious(0.02)	.	DCA13_HUMAN	DCAF13	HGNC	.	.	UPI0000DBEF2A	SNV	DCAF13,missense_variant,p.Asp441Gly,ENST00000297579,;DCAF13,non_coding_transcript_exon_variant,,ENST00000521999,;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,;	1599	42	56	SUCCESS
CSMD3	114788	.	GRCh37	8	113421251	113421251	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	72	214	1	ENST00000297405.5:c.5406C>A	p.Gly1802=	p.G1802=	ENST00000297405	NM_198123.1	1802	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6315.1	5406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGCCAAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	33/71	.	.	.	.	.	.	.	.	.	33/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000339701,;	5651	215	191	SUCCESS
USP17L2	377630	.	GRCh37	8	11995932	11995932	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769610822	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	101	0	ENST00000333796.3:c.338A>G	p.His113Arg	p.H113R	ENST00000333796	NM_201402.2	113	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS43713.1	338	MUTECT|MUSE	.	GAGAGTGCTCC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000333329	.	1/1	.	.	.	.	.	.	.	.	rs769610822	1/1	PASS	ENST00000333796	Transcript	.	.	ENSG00000223443	34434	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.766)	.	deleterious(0.01)	.	U17L2_HUMAN	USP17L2	HGNC	.	.	UPI0000198137	SNV	USP17L2,missense_variant,p.His113Arg,ENST00000333796,;FAM66D,intron_variant,,ENST00000434078,;USP17L7,upstream_gene_variant,,ENST00000530447,;USP17L7,upstream_gene_variant,,ENST00000416902,;	655	101	74	SUCCESS
ATAD2	29028	.	GRCh37	8	124340665	124340665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	54	117	0	ENST00000287394.5:c.3633T>A	p.Asp1211Glu	p.D1211E	ENST00000287394	NM_014109.3	1211	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS6343.1	3633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGATCTAC	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1	.	.	ENSP00000287394	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.21)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Asp1211Glu,ENST00000287394,;ATAD2,missense_variant,p.Asp529Glu,ENST00000521903,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,intron_variant,,ENST00000517666,;	3741	117	132	SUCCESS
ATAD2	29028	.	GRCh37	8	124383532	124383532	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	64	196	0	ENST00000287394.5:c.583C>T	p.Arg195Cys	p.R195C	ENST00000287394	NM_014109.3	195	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS6343.1	583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACGCATCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1	.	.	ENSP00000287394	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.01)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Arg195Cys,ENST00000287394,;ATAD2,5_prime_UTR_variant,,ENST00000521903,;ATAD2,upstream_gene_variant,,ENST00000534257,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;ATAD2,downstream_gene_variant,,ENST00000530065,;	691	196	176	SUCCESS
KIAA1456	0	.	GRCh37	8	12879351	12879351	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs944085496	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	45	145	0	ENST00000524591.2:c.1163A>G	p.Asn388Ser	p.N388S	ENST00000524591	NM_020844.2	388	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS47808.1	1163	RADIA|MUTECT|MUSE	.	TTTCAACCCAG	NONE	.	.	hmmpanther:PTHR13069,hmmpanther:PTHR13069:SF25	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.039)	.	tolerated(0.78)	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,missense_variant,p.Asn388Ser,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,non_coding_transcript_exon_variant,,ENST00000529978,;KIAA1456,downstream_gene_variant,,ENST00000529706,;	1652	145	144	SUCCESS
ASAP1	50807	.	GRCh37	8	131172160	131172160	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	63	0	ENST00000518721.1:c.960T>A	p.Asn320Lys	p.N320K	ENST00000518721	NM_001247996.1	320	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS6362.1	960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTATTGCC	NONE	.	.	hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180,Superfamily_domains:SSF50729	.	.	ENSP00000350297	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,missense_variant,p.Asn320Lys,ENST00000518721,;ASAP1,missense_variant,p.Asn141Lys,ENST00000524124,;ASAP1,missense_variant,p.Asn320Lys,ENST00000357668,;ASAP1,missense_variant,p.Asn290Lys,ENST00000524367,;SNORA12,upstream_gene_variant,,ENST00000391040,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000524018,;	988	64	85	SUCCESS
TMEM71	137835	.	GRCh37	8	133764034	133764034	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	121	0	ENST00000356838.3:c.311T>G	p.Val104Gly	p.V104G	ENST00000356838	NM_144649.2	104	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS6366.1	311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTAACTAAG	NONE	.	.	Pfam_domain:PF15121	.	.	ENSP00000349296	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000356838	Transcript	.	.	ENSG00000165071	26572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TMM71_HUMAN	TMEM71	HGNC	E5RH69_HUMAN,E5RGD3_HUMAN	.	UPI000013E44E	SNV	TMEM71,missense_variant,p.Val104Gly,ENST00000356838,;TMEM71,missense_variant,p.Val7Gly,ENST00000519016,;TMEM71,missense_variant,p.Val7Gly,ENST00000522334,;TMEM71,missense_variant,p.Val104Gly,ENST00000523829,;TMEM71,missense_variant,p.Val104Gly,ENST00000377901,;TMEM71,downstream_gene_variant,,ENST00000519187,;TMEM71,downstream_gene_variant,,ENST00000519304,;TMEM71,non_coding_transcript_exon_variant,,ENST00000517538,;	454	121	109	SUCCESS
PHF20L1	51105	.	GRCh37	8	133848922	133848922	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	146	0	ENST00000395386.2:c.2047C>T	p.Arg683Ter	p.R683*	ENST00000395386	NM_016018.4	683	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS6367.2	2047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGCGATGT	BUFFER|p.R657*|c.1969C>T|3	.	.	Superfamily_domains:SSF57903,Pfam_domain:PF00628,Gene3D:3.30.40.10,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26	.	.	ENSP00000378784	.	16/21	.	.	.	.	.	.	.	.	COSM1597462,COSM204361	16/21	PASS	ENST00000395386	Transcript	.	.	ENSG00000129292	24280	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	P20L1_HUMAN	PHF20L1	HGNC	E5RK91_HUMAN,B3KWX5_HUMAN	.	UPI0000DBD7AF	SNV	PHF20L1,stop_gained,p.Arg658Ter,ENST00000395390,;PHF20L1,stop_gained,p.Arg70Ter,ENST00000220847,;PHF20L1,stop_gained,p.Arg683Ter,ENST00000395386,;AF230666.2,downstream_gene_variant,,ENST00000429151,;AF230666.2,downstream_gene_variant,,ENST00000608375,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000493126,;PHF20L1,upstream_gene_variant,,ENST00000477051,;	2346	146	146	SUCCESS
C8orf48	157773	.	GRCh37	8	13424486	13424486	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs116418644	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	53	0	ENST00000297324.4:c.-15G>A		p.*5*	ENST00000297324	NM_001007090.2			0	.	A:0.0166	.	A:0.0043	.	A	.	protein_coding	YES	CCDS47809.1	.	RADIA|MUTECT|VARSCANS	.	GCCGAGCCTGA	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000297324	A:0	1/1	.	.	.	.	.	.	.	.	rs116418644	1/1	PASS	ENST00000297324	Transcript	.	A:0.0050	ENSG00000164743	26345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	CH048_HUMAN	C8orf48	HGNC	.	.	UPI000013E3F6	SNV	C8orf48,5_prime_UTR_variant,,ENST00000297324,;RP11-145O15.3,intron_variant,,ENST00000529018,;	135	53	56	SUCCESS
TRAPPC9	83696	.	GRCh37	8	141381151	141381151	+	synonymous_variant	Silent	SNP	C	C	T	rs113690180	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	64	0	ENST00000438773.2:c.1263G>A	p.Ala421=	p.A421=	ENST00000438773	NM_001160372.1	421	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34946.1	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCGCGAT	NONE	byFrequency|byCluster	.	Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11	.	.	ENSP00000373979	.	8/23	.	.	.	.	.	.	.	.	rs113690180	8/23	PASS	ENST00000389328	Transcript	1	.	ENSG00000167632	30832	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPPC9_HUMAN	TRAPPC9	HGNC	.	.	UPI0000DBEF2B	SNV	TRAPPC9,synonymous_variant,p.%3D,ENST00000520857,;TRAPPC9,synonymous_variant,p.%3D,ENST00000389327,;TRAPPC9,synonymous_variant,p.%3D,ENST00000389328,;TRAPPC9,synonymous_variant,p.%3D,ENST00000438773,;	1572	64	55	SUCCESS
LYNX1	66004	.	GRCh37	8	143857040	143857040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	107	0	ENST00000335822.5:c.125T>C	p.Met42Thr	p.M42T	ENST00000335822	NM_023946.2	42	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS34951.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCATAGCC	NONE	.	.	hmmpanther:PTHR16983,hmmpanther:PTHR16983:SF11,Pfam_domain:PF00021,Superfamily_domains:SSF57302	.	.	ENSP00000337950	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000335822	Transcript	.	.	ENSG00000180155	29604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious(0.01)	.	LYNX1_HUMAN	LYNX1	HGNC	.	.	UPI0000168665	SNV	LYNX1,missense_variant,p.Met42Thr,ENST00000335822,;LYNX1,missense_variant,p.Met42Thr,ENST00000345173,;LYNX1,missense_variant,p.Met42Thr,ENST00000395192,;LYNX1,missense_variant,p.Met42Thr,ENST00000520131,;LYNX1,missense_variant,p.Met42Thr,ENST00000522929,;LYNX1,missense_variant,p.Met42Thr,ENST00000523332,;LYNX1,missense_variant,p.Met42Thr,ENST00000398906,;LYNX1,downstream_gene_variant,,ENST00000522906,;	753	107	90	SUCCESS
FAM83H	286077	.	GRCh37	8	144809309	144809309	+	synonymous_variant	Silent	SNP	C	C	T	rs566224492	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	592	215	775	0	ENST00000388913.3:c.2322G>A	p.Ala774=	p.A774=	ENST00000388913	NM_198488.3	774	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS6410.2	2322	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GGGGCCGCCAC	NONE	by1000G	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	T:0	.	ENSP00000373565	T:0	5/5	.	.	.	.	.	.	.	.	rs566224492	5/5	PASS	ENST00000388913	Transcript	1	T:0.0002	ENSG00000180921	24797	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,synonymous_variant,p.%3D,ENST00000388913,;MAPK15,downstream_gene_variant,,ENST00000338033,;FAM83H,synonymous_variant,p.%3D,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000484654,;	2448	775	807	SUCCESS
FAM83H	286077	.	GRCh37	8	144812634	144812634	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371078447	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	698	510	1324	1	ENST00000388913.3:c.119C>T	p.Ser40Leu	p.S40L	ENST00000388913	NM_198488.3	40	tCg/tTg	0	A:0.0003	.	.	.	.	A	S/L	protein_coding	YES	CCDS6410.2	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGAGCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8,Pfam_domain:PF07894	.	A:0	ENSP00000373565	.	2/5	.	.	.	.	.	.	.	.	rs371078447	2/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.41)	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,missense_variant,p.Ser40Leu,ENST00000388913,;MIR4664,downstream_gene_variant,,ENST00000583819,;FAM83H-AS1,upstream_gene_variant,,ENST00000533004,;FAM83H,upstream_gene_variant,,ENST00000395103,;	245	1325	1209	SUCCESS
EPPK1	83481	.	GRCh37	8	144942558	144942558	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs782003091	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	69	0	ENST00000525985.1:c.4864A>T	p.Lys1622Ter	p.K1622*	ENST00000525985	NM_031308.2	1622	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	.	4864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTCCGGT	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	rs782003091	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,stop_gained,p.Lys1622Ter,ENST00000525985,;	4936	69	84	SUCCESS
SPATC1	375686	.	GRCh37	8	145095689	145095689	+	synonymous_variant	Silent	SNP	C	C	T	rs782217096	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	116	0	ENST00000377470.3:c.987C>T	p.Ser329=	p.S329=	ENST00000377470	NM_198572.2	329	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6413.2	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCCCCAC	BUFFER|p.T327P|c.979A>C|3,BUFFER|p.T236P|c.706A>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16	.	.	ENSP00000366690	.	3/5	.	.	.	.	.	.	.	.	rs782217096	3/5	PASS	ENST00000377470	Transcript	.	.	ENSG00000186583	30510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPERI_HUMAN	SPATC1	HGNC	.	.	UPI00001D8243	SNV	SPATC1,synonymous_variant,p.%3D,ENST00000447830,;SPATC1,synonymous_variant,p.%3D,ENST00000377470,;	1089	116	101	SUCCESS
VPS28	51160	.	GRCh37	8	145649444	145649444	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	55	133	0	ENST00000292510.4:c.528C>T	p.Gly176=	p.G176=	ENST00000292510	NM_016208.3	176	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34967.1	528	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGCCCTC	NONE	.	.	PROSITE_profiles:PS51310,hmmpanther:PTHR12937,Pfam_domain:PF03997,PIRSF_domain:PIRSF017535,Superfamily_domains:0053163	.	.	ENSP00000366565	.	9/9	.	.	.	.	.	.	.	.	COSM3898241,COSM3898242	9/9	PASS	ENST00000377348	Transcript	.	.	ENSG00000160948	18178	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	VPS28_HUMAN	VPS28	HGNC	E9PR04_HUMAN,E9PQR7_HUMAN,E9PLM9_HUMAN,E9PI55_HUMAN	.	UPI000018CECF	SNV	VPS28,synonymous_variant,p.%3D,ENST00000526054,;VPS28,synonymous_variant,p.%3D,ENST00000529182,;VPS28,synonymous_variant,p.%3D,ENST00000292510,;VPS28,synonymous_variant,p.%3D,ENST00000533806,;VPS28,synonymous_variant,p.%3D,ENST00000377348,;TONSL,downstream_gene_variant,,ENST00000409379,;VPS28,downstream_gene_variant,,ENST00000530790,;VPS28,downstream_gene_variant,,ENST00000531032,;VPS28,downstream_gene_variant,,ENST00000526734,;VPS28,downstream_gene_variant,,ENST00000524521,;VPS28,3_prime_UTR_variant,,ENST00000526204,;VPS28,3_prime_UTR_variant,,ENST00000526977,;VPS28,3_prime_UTR_variant,,ENST00000527797,;VPS28,3_prime_UTR_variant,,ENST00000530983,;VPS28,3_prime_UTR_variant,,ENST00000530836,;VPS28,non_coding_transcript_exon_variant,,ENST00000528142,;TONSL,downstream_gene_variant,,ENST00000497613,;VPS28,downstream_gene_variant,,ENST00000531924,;	618	133	125	SUCCESS
FOXH1	8928	.	GRCh37	8	145700399	145700399	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	70	0	ENST00000377317.4:c.320T>C	p.Phe107Ser	p.F107S	ENST00000377317	NM_003923.2	107	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS6428.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAAGTTG	NONE	.	.	Superfamily_domains:SSF46785,SMART_domains:SM00339,Gene3D:1.10.10.10,Pfam_domain:PF00250,hmmpanther:PTHR11829:SF122,hmmpanther:PTHR11829,PROSITE_profiles:PS50039	.	.	ENSP00000366534	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377317	Transcript	1	.	ENSG00000160973	3814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	FOXH1_HUMAN	FOXH1	HGNC	.	.	UPI0000053417	SNV	FOXH1,missense_variant,p.Phe107Ser,ENST00000377317,;KIFC2,downstream_gene_variant,,ENST00000301331,;KIFC2,downstream_gene_variant,,ENST00000301332,;FOXH1,non_coding_transcript_exon_variant,,ENST00000525197,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;KIFC2,downstream_gene_variant,,ENST00000531423,;PPP1R16A,upstream_gene_variant,,ENST00000533088,;KIFC2,downstream_gene_variant,,ENST00000531425,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;	899	70	90	SUCCESS
LRRC14	9684	.	GRCh37	8	145746113	145746113	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748837708	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	18	0	ENST00000292524.1:c.821G>A	p.Arg274His	p.R274H	ENST00000292524	NM_014665.3	274	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6432.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCTACT	NONE	.	.	hmmpanther:PTHR14224:SF9,hmmpanther:PTHR14224,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000292524	.	3/4	.	.	.	.	.	.	.	.	rs748837708	3/4	PASS	ENST00000292524	Transcript	.	.	ENSG00000160959	20419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.13)	.	LRC14_HUMAN	LRRC14	HGNC	E9PRP5_HUMAN,E9PP40_HUMAN,E9PNL0_HUMAN	.	UPI000004EC76	SNV	LRRC14,missense_variant,p.Arg274His,ENST00000529022,;LRRC14,missense_variant,p.Arg274His,ENST00000527730,;LRRC14,missense_variant,p.Arg274His,ENST00000292524,;LRRC14,downstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000524998,;LRRC24,downstream_gene_variant,,ENST00000529415,;RECQL4,upstream_gene_variant,,ENST00000428558,;LRRC24,downstream_gene_variant,,ENST00000533758,;LRRC14,downstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000532846,;RECQL4,upstream_gene_variant,,ENST00000532237,;LRRC14,upstream_gene_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;RECQL4,upstream_gene_variant,,ENST00000532269,;LRRC14,non_coding_transcript_exon_variant,,ENST00000531310,;RECQL4,upstream_gene_variant,,ENST00000534538,;RECQL4,upstream_gene_variant,,ENST00000534270,;	967	18	18	SUCCESS
LRRC14	9684	.	GRCh37	8	145746554	145746554	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1422184680	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	65	0	ENST00000292524.1:c.1174T>C	p.Cys392Arg	p.C392R	ENST00000292524	NM_014665.3	392	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS6432.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGTGCGCC	NONE	.	.	hmmpanther:PTHR14224:SF9,hmmpanther:PTHR14224,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000292524	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000292524	Transcript	.	.	ENSG00000160959	20419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	LRC14_HUMAN	LRRC14	HGNC	E9PRP5_HUMAN,E9PP40_HUMAN,E9PNL0_HUMAN	.	UPI000004EC76	SNV	LRRC14,missense_variant,p.Cys392Arg,ENST00000529022,;LRRC14,missense_variant,p.Cys392Arg,ENST00000292524,;LRRC14,downstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000524998,;C8orf82,downstream_gene_variant,,ENST00000524821,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC24,downstream_gene_variant,,ENST00000529415,;RECQL4,upstream_gene_variant,,ENST00000428558,;LRRC24,downstream_gene_variant,,ENST00000533758,;LRRC14,downstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000532237,;LRRC14,upstream_gene_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;RECQL4,upstream_gene_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000534538,;RECQL4,upstream_gene_variant,,ENST00000534270,;LRRC14,downstream_gene_variant,,ENST00000531310,;	1320	65	47	SUCCESS
LRRC24	441381	.	GRCh37	8	145750253	145750253	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	55	0	ENST00000529415.2:c.106T>C	p.Cys36Arg	p.C36R	ENST00000529415		36	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS34969.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACACTCCA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00013,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255	.	.	ENSP00000434849	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000529415	Transcript	.	.	ENSG00000254402	28947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRC24_HUMAN	LRRC24	HGNC	.	.	UPI0000419443	SNV	LRRC24,missense_variant,p.Cys36Arg,ENST00000529415,;LRRC24,missense_variant,p.Cys36Arg,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000525766,;C8orf82,downstream_gene_variant,,ENST00000527462,;C8orf82,downstream_gene_variant,,ENST00000524821,;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC14,downstream_gene_variant,,ENST00000529022,;ARHGAP39,downstream_gene_variant,,ENST00000377307,;ARHGAP39,downstream_gene_variant,,ENST00000276826,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,non_coding_transcript_exon_variant,,ENST00000529995,;LRRC14,downstream_gene_variant,,ENST00000528528,;LRRC14,downstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	224	55	60	SUCCESS
C8orf82	414919	.	GRCh37	8	145752948	145752948	+	synonymous_variant	Silent	SNP	C	C	T	rs755822593	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	7	14	0	ENST00000524821.1:c.429G>A	p.Ala143=	p.A143=	ENST00000524821		143	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34970.1	429	MUTECT|MUSE	.	AGGCGCGCCGG	NONE	byFrequency	.	hmmpanther:PTHR31449,hmmpanther:PTHR31449:SF1,Pfam_domain:PF14956	.	.	ENSP00000436621	.	3/3	.	.	.	.	.	.	.	.	rs755822593	3/3	PASS	ENST00000524821	Transcript	.	.	ENSG00000213563	33826	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CH082_HUMAN	C8orf82	HGNC	.	.	UPI000006EE1C	SNV	C8orf82,synonymous_variant,p.%3D,ENST00000532827,;C8orf82,synonymous_variant,p.%3D,ENST00000524821,;C8orf82,3_prime_UTR_variant,,ENST00000313465,;ARHGAP39,downstream_gene_variant,,ENST00000276826,;LRRC24,upstream_gene_variant,,ENST00000529415,;LRRC24,upstream_gene_variant,,ENST00000533758,;C8orf82,downstream_gene_variant,,ENST00000527462,;ARHGAP39,downstream_gene_variant,,ENST00000540274,;LRRC14,downstream_gene_variant,,ENST00000292524,;ARHGAP39,downstream_gene_variant,,ENST00000377307,;LRRC14,downstream_gene_variant,,ENST00000528528,;LRRC14,downstream_gene_variant,,ENST00000530242,;LRRC14,downstream_gene_variant,,ENST00000529995,;C8orf82,synonymous_variant,p.%3D,ENST00000534680,;	645	14	8	SUCCESS
ZNF517	340385	.	GRCh37	8	146029091	146029091	+	synonymous_variant	Silent	SNP	C	C	T	rs201095849	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	45	103	0	ENST00000359971.3:c.99C>T	p.Pro33=	p.P33=	ENST00000359971	NM_213605.2	33	ccC/ccT	0	.	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS6434.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCGACCA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_profiles:PS50805	T:0.001	.	ENSP00000353058	T:0.001	3/5	.	.	.	.	.	.	.	.	rs201095849	3/5	PASS	ENST00000359971	Transcript	.	T:0.0006	ENSG00000197363	27984	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN517_HUMAN	ZNF517	HGNC	.	.	UPI000045770F	SNV	ZNF517,synonymous_variant,p.%3D,ENST00000359971,;ZNF517,synonymous_variant,p.%3D,ENST00000531720,;ZNF517,synonymous_variant,p.%3D,ENST00000528012,;ZNF517,synonymous_variant,p.%3D,ENST00000525105,;ZNF517,intron_variant,,ENST00000529429,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,synonymous_variant,p.%3D,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,;	206	103	115	SUCCESS
ZNF517	340385	.	GRCh37	8	146033090	146033090	+	synonymous_variant	Silent	SNP	C	C	T	rs781780699	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	79	0	ENST00000359971.3:c.789C>T	p.Cys263=	p.C263=	ENST00000359971	NM_213605.2	263	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS6434.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGCGGCGA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000353058	.	5/5	.	.	.	.	.	.	.	.	rs781780699	5/5	PASS	ENST00000359971	Transcript	.	.	ENSG00000197363	27984	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN517_HUMAN	ZNF517	HGNC	.	.	UPI000045770F	SNV	ZNF517,synonymous_variant,p.%3D,ENST00000359971,;ZNF517,synonymous_variant,p.%3D,ENST00000531720,;ZNF517,synonymous_variant,p.%3D,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,synonymous_variant,p.%3D,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,;	896	79	65	SUCCESS
ZNF252P	286101	.	GRCh37	8	146203006	146203006	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	10	0	ENST00000426361.2:n.1179A>G		p.*393*	ENST00000426361				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGTAAGGT	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426361	Transcript	.	.	ENSG00000196922	13046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF252P	HGNC	.	.	.	SNV	ZNF252P,non_coding_transcript_exon_variant,,ENST00000426361,;ZNF252P,downstream_gene_variant,,ENST00000528392,;ZNF252P,downstream_gene_variant,,ENST00000527222,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000427606,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000592792,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000355436,;	1179	10	16	SUCCESS
CLN8	2055	.	GRCh37	8	1719730	1719730	+	synonymous_variant	Silent	SNP	G	G	A	rs759153401	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	59	0	ENST00000331222.4:c.510G>A	p.Thr170=	p.T170=	ENST00000331222	NM_018941.3	170	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5956.1	510	MUTECT|MUSE|VARSCANS	.	AGCACGCCCTT	NONE	byFrequency	.	PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF7,Pfam_domain:PF03798,SMART_domains:SM00724	.	.	ENSP00000328182	.	2/3	.	.	.	.	.	.	.	.	rs759153401	2/3	PASS	ENST00000331222	Transcript	1	.	ENSG00000182372	2079	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLN8_HUMAN	CLN8	HGNC	.	.	UPI0000169EAA	SNV	CLN8,synonymous_variant,p.%3D,ENST00000331222,;CLN8,downstream_gene_variant,,ENST00000524258,;CLN8,upstream_gene_variant,,ENST00000523237,;CLN8,upstream_gene_variant,,ENST00000519254,;CLN8,non_coding_transcript_exon_variant,,ENST00000520991,;	757	59	44	SUCCESS
ARHGEF10	9639	.	GRCh37	8	1842674	1842674	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144726787	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	105	0	ENST00000398564.1:c.1451C>T	p.Ala484Val	p.A484V	ENST00000398564		484	gCg/gTg	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS34794.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCGCGCTGG	NONE	byCluster	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12877:SF14,hmmpanther:PTHR12877,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	T:0.0001	ENSP00000340297	.	13/29	.	.	.	.	.	.	.	.	rs144726787,COSM3898595,COSM3898596,COSM3898594	13/29	PASS	ENST00000349830	Transcript	1	.	ENSG00000104728	14103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	0,1,1,1	ARHGA_HUMAN	ARHGEF10	HGNC	.	.	UPI00005054FE	SNV	ARHGEF10,missense_variant,p.Ala132Val,ENST00000522435,;ARHGEF10,missense_variant,p.Ala484Val,ENST00000262112,;ARHGEF10,missense_variant,p.Ala484Val,ENST00000398564,;ARHGEF10,missense_variant,p.Ala459Val,ENST00000349830,;ARHGEF10,missense_variant,p.Ala445Val,ENST00000398560,;ARHGEF10,missense_variant,p.Ala421Val,ENST00000520359,;ARHGEF10,missense_variant,p.Ala484Val,ENST00000518288,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;	1561	105	112	SUCCESS
ADAM28	10863	.	GRCh37	8	24193345	24193345	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	9	0	ENST00000265769.4:c.1567+191C>T		p.*523*	ENST00000265769	NM_014265.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34865.1	.	MUTECT|MUSE|VARSCANS	.	GATGGCCCCGT	NONE	.	.	.	.	.	ENSP00000265769	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	MODIFIER	14/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,3_prime_UTR_variant,,ENST00000437154,;ADAM28,3_prime_UTR_variant,,ENST00000540823,;ADAM28,intron_variant,,ENST00000521629,;ADAM28,intron_variant,,ENST00000397649,;ADAM28,intron_variant,,ENST00000265769,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,downstream_gene_variant,,ENST00000521110,;ADAM28,downstream_gene_variant,,ENST00000518516,;ADAM28,intron_variant,,ENST00000520448,;	.	9	29	SUCCESS
NEFM	4741	.	GRCh37	8	24772485	24772485	+	intron_variant	Intron	SNP	T	T	C	rs763045499	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	26	0	ENST00000221166.5:c.1080+99T>C		p.*360*	ENST00000221166				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6046.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTGGTGG	NONE	.	.	.	.	.	ENSP00000221166	.	.	.	.	.	.	.	.	.	.	rs763045499	.	PASS	ENST00000221166	Transcript	.	.	ENSG00000104722	7734	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFM_HUMAN	NEFM	HGNC	.	.	UPI000013C7A9	SNV	NEFM,5_prime_UTR_variant,,ENST00000433454,;NEFM,intron_variant,,ENST00000518131,;NEFM,intron_variant,,ENST00000221166,;NEFM,intron_variant,,ENST00000437366,;RP11-624C23.1,upstream_gene_variant,,ENST00000519689,;GS1-72M22.1,upstream_gene_variant,,ENST00000607058,;NEFM,intron_variant,,ENST00000521540,;NEFM,intron_variant,,ENST00000523467,;	.	26	22	SUCCESS
PPP2R2A	5520	.	GRCh37	8	26223877	26223877	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	104	0	ENST00000380737.3:c.1019A>G	p.Asp340Gly	p.D340G	ENST00000380737	NM_002717.3	340	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS55213.1	1049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGACTGCA	NONE	.	.	hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF2,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037309,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00600	.	.	ENSP00000325074	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000315985	Transcript	.	.	ENSG00000221914	9304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.265)	.	deleterious(0.01)	.	2ABA_HUMAN	PPP2R2A	HGNC	E5RFR9_HUMAN	.	UPI0000E219EC	SNV	PPP2R2A,missense_variant,p.Asp119Gly,ENST00000524169,;PPP2R2A,missense_variant,p.Asp340Gly,ENST00000380737,;PPP2R2A,missense_variant,p.Asp350Gly,ENST00000315985,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000518215,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000518208,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000517754,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000518890,;	1080	104	98	SUCCESS
SCARA3	51435	.	GRCh37	8	27516318	27516318	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	6	118	0	ENST00000301904.3:c.631C>A	p.Gln211Lys	p.Q211K	ENST00000301904	NM_016240.2	211	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS34871.1	631	MUTECT|MUSE	.	TCACCCAGGAG	NONE	.	.	hmmpanther:PTHR24637,hmmpanther:PTHR24637:SF210	.	.	ENSP00000301904	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000301904	Transcript	.	.	ENSG00000168077	19000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.374)	.	tolerated(0.14)	.	SCAR3_HUMAN	SCARA3	HGNC	.	.	UPI00001B94D8	SNV	SCARA3,missense_variant,p.Gln211Lys,ENST00000337221,;SCARA3,missense_variant,p.Gln211Lys,ENST00000301904,;	651	118	144	SUCCESS
ESCO2	157570	.	GRCh37	8	27646450	27646450	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	76	0	ENST00000305188.8:c.1218G>A	p.Gln406=	p.Q406=	ENST00000305188	NM_001017420.2	406	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS34872.1	1218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGCATGT	NONE	.	.	hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF28,Pfam_domain:PF13878	.	.	ENSP00000306999	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000305188	Transcript	1	.	ENSG00000171320	27230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESCO2_HUMAN	ESCO2	HGNC	E5RIE3_HUMAN,E5RFP7_HUMAN	.	UPI0000160D17	SNV	ESCO2,synonymous_variant,p.%3D,ENST00000305188,;ESCO2,synonymous_variant,p.%3D,ENST00000518262,;ESCO2,synonymous_variant,p.%3D,ENST00000397418,;ESCO2,3_prime_UTR_variant,,ENST00000522378,;	1456	76	102	SUCCESS
PBK	55872	.	GRCh37	8	27667883	27667883	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs756023481	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	45	106	0	ENST00000301905.4:c.908A>T	p.Glu303Val	p.E303V	ENST00000301905	NM_001278945.1	303	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6063.1	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTTCATTA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF76,PROSITE_profiles:PS50011	.	.	ENSP00000301905	.	8/8	.	.	.	.	.	.	.	.	rs756023481	8/8	PASS	ENST00000301905	Transcript	.	.	ENSG00000168078	18282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.05)	.	TOPK_HUMAN	PBK	HGNC	.	.	UPI0000035B8B	SNV	PBK,missense_variant,p.Glu314Val,ENST00000522944,;PBK,missense_variant,p.Glu303Val,ENST00000301905,;ESCO2,intron_variant,,ENST00000397418,;PBK,3_prime_UTR_variant,,ENST00000524266,;ESCO2,intron_variant,,ENST00000522378,;	1372	106	94	SUCCESS
EXTL3	2137	.	GRCh37	8	28608212	28608212	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	60	0	ENST00000220562.4:c.2589T>C	p.Pro863=	p.P863=	ENST00000220562	NM_001440.3	863	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6070.1	2589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTCAGGC	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF09258,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57	.	.	ENSP00000220562	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000220562	Transcript	.	.	ENSG00000012232	3518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXTL3_HUMAN	EXTL3	HGNC	E5RIV6_HUMAN,B4DG91_HUMAN	.	UPI000012A35D	SNV	EXTL3,synonymous_variant,p.%3D,ENST00000523149,;EXTL3,synonymous_variant,p.%3D,ENST00000517738,;EXTL3,synonymous_variant,p.%3D,ENST00000521473,;EXTL3,synonymous_variant,p.%3D,ENST00000220562,;EXTL3,non_coding_transcript_exon_variant,,ENST00000520679,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,non_coding_transcript_exon_variant,,ENST00000523271,;	3491	60	45	SUCCESS
TMEM66	0	.	GRCh37	8	29924389	29924389	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	16	152	0	ENST00000256255.6:c.746C>T	p.Ala249Val	p.A249V	ENST00000256255	NM_016127.4	249	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6074.1	746	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGCACTG	NONE	.	.	Pfam_domain:PF06682,hmmpanther:PTHR15929	.	.	ENSP00000256255	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000256255	Transcript	.	.	ENSG00000133872	28789	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	tolerated(0.34)	.	SARAF_HUMAN	TMEM66	HGNC	E5RHW0_HUMAN,B7Z307_HUMAN	.	UPI0000035F61	SNV	TMEM66,missense_variant,p.Ala77Val,ENST00000545648,;TMEM66,missense_variant,p.Ala77Val,ENST00000536273,;TMEM66,missense_variant,p.Ala119Val,ENST00000518296,;TMEM66,missense_variant,p.Ala147Val,ENST00000523127,;TMEM66,missense_variant,p.Ala249Val,ENST00000256255,;TMEM66,missense_variant,p.Ala249Val,ENST00000521265,;TMEM66,downstream_gene_variant,,ENST00000523761,;TMEM66,downstream_gene_variant,,ENST00000522794,;TMEM66,3_prime_UTR_variant,,ENST00000518174,;TMEM66,3_prime_UTR_variant,,ENST00000520303,;TMEM66,non_coding_transcript_exon_variant,,ENST00000521934,;TMEM66,intron_variant,,ENST00000518340,;TMEM66,downstream_gene_variant,,ENST00000522055,;	1004	152	164	SUCCESS
UNC5D	137970	.	GRCh37	8	35541099	35541099	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	113	0	ENST00000404895.2:c.605C>A	p.Ser202Tyr	p.S202Y	ENST00000404895	NM_080872.2	202	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS6093.2	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTCTGAAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12582:SF5,hmmpanther:PTHR12582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000385143	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	deleterious(0.02)	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,missense_variant,p.Ser197Tyr,ENST00000453357,;UNC5D,missense_variant,p.Ser202Tyr,ENST00000416672,;UNC5D,missense_variant,p.Ser202Tyr,ENST00000404895,;UNC5D,missense_variant,p.Ser202Tyr,ENST00000287272,;UNC5D,missense_variant,p.Ser202Tyr,ENST00000420357,;UNC5D,upstream_gene_variant,,ENST00000474634,;	933	113	113	SUCCESS
FBXO25	26260	.	GRCh37	8	363195	363195	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	42	170	0	ENST00000382824.1:c.-36G>A		p.*12*	ENST00000382824		39		0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS5953.1	116	RADIA|MUTECT|MUSE	.	CCGTTGTAACA	NONE	.	.	hmmpanther:PTHR13123,hmmpanther:PTHR13123:SF8	.	.	ENSP00000276326	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000276326	Transcript	.	.	ENSG00000147364	13596	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	FBX25_HUMAN	FBXO25	HGNC	H0YBS4_HUMAN,E5RFH9_HUMAN	.	UPI00001CE3B4	SNV	FBXO25,missense_variant,p.Cys39Tyr,ENST00000276326,;FBXO25,missense_variant,p.Cys39Tyr,ENST00000350302,;FBXO25,missense_variant,p.Cys39Tyr,ENST00000518240,;FBXO25,5_prime_UTR_variant,,ENST00000382824,;FBXO25,5_prime_UTR_variant,,ENST00000352684,;	235	170	158	SUCCESS
WHSC1L1	0	.	GRCh37	8	38184373	38184373	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	68	0	ENST00000317025.8:c.1583G>A	p.Gly528Glu	p.G528E	ENST00000317025	NM_023034.1	528	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS43729.1	1583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCCCTTT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF301	.	.	ENSP00000313983	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000317025	Transcript	.	.	ENSG00000147548	12767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.3)	.	NSD3_HUMAN	WHSC1L1	HGNC	E9PQ95_HUMAN,E9PKA2_HUMAN	.	UPI000006F297	SNV	WHSC1L1,missense_variant,p.Gly528Glu,ENST00000316985,;WHSC1L1,missense_variant,p.Gly528Glu,ENST00000433384,;WHSC1L1,missense_variant,p.Gly528Glu,ENST00000317025,;WHSC1L1,missense_variant,p.Gly528Glu,ENST00000527502,;WHSC1L1,upstream_gene_variant,,ENST00000528627,;	2101	68	81	SUCCESS
GINS4	84296	.	GRCh37	8	41387738	41387738	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	24	157	1	ENST00000276533.3:c.17A>G	p.Asp6Gly	p.D6G	ENST00000276533	NM_032336.2	6	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6116.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGATTTCC	NONE	.	.	hmmpanther:PTHR21206,hmmpanther:PTHR21206:SF0,PIRSF_domain:PIRSF007764	.	.	ENSP00000276533	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000276533	Transcript	.	.	ENSG00000147536	28226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.04)	.	SLD5_HUMAN	GINS4	HGNC	E5RFF9_HUMAN	.	UPI000007007B	SNV	GINS4,missense_variant,p.Asp6Gly,ENST00000523277,;GINS4,missense_variant,p.Asp6Gly,ENST00000520710,;GINS4,missense_variant,p.Asp6Gly,ENST00000276533,;GINS4,missense_variant,p.Asp6Gly,ENST00000518671,;RP11-360L9.4,downstream_gene_variant,,ENST00000523081,;GINS4,missense_variant,p.Asp6Gly,ENST00000520354,;GINS4,non_coding_transcript_exon_variant,,ENST00000520736,;GINS4,non_coding_transcript_exon_variant,,ENST00000520631,;	227	158	135	SUCCESS
RB1CC1	9821	.	GRCh37	8	53555118	53555118	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768037976	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	104	0	ENST00000025008.5:c.4130G>A	p.Arg1377His	p.R1377H	ENST00000025008	NM_014781.4	1377	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34892.1	4130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAACGAGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	.	.	ENSP00000025008	.	18/24	.	.	.	.	.	.	.	.	rs768037976	18/24	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.05)	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,missense_variant,p.Arg1377His,ENST00000025008,;RB1CC1,missense_variant,p.Arg1377His,ENST00000539297,;RB1CC1,missense_variant,p.Arg1377His,ENST00000435644,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,non_coding_transcript_exon_variant,,ENST00000522957,;	4654	104	97	SUCCESS
FAM110B	90362	.	GRCh37	8	59058737	59058737	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs565624676	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	45	128	0	ENST00000361488.3:c.-53C>T		p.*18*	ENST00000361488	NM_147189.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS6170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCGGAGG	NONE	by1000G	.	.	T:0	.	ENSP00000355204	T:0.001	5/5	.	.	.	.	.	.	.	.	rs565624676	5/5	PASS	ENST00000361488	Transcript	.	T:0.0002	ENSG00000169122	28587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	F110B_HUMAN	FAM110B	HGNC	.	.	UPI000006E853	SNV	FAM110B,5_prime_UTR_variant,,ENST00000361488,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,intron_variant,,ENST00000520369,;FAM110B,downstream_gene_variant,,ENST00000521413,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000519262,;	828	128	101	SUCCESS
NSMAF	8439	.	GRCh37	8	59511898	59511898	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	89	0	ENST00000038176.3:c.1478G>A	p.Ser493Asn	p.S493N	ENST00000038176	NM_003580.3	493	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS47864.1	1571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCTCTTC	NONE	.	.	PROSITE_profiles:PS50197,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	.	.	ENSP00000411012	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000427130	Transcript	.	.	ENSG00000035681	8017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.34)	.	FAN_HUMAN	NSMAF	HGNC	.	.	UPI000192950C	SNV	NSMAF,missense_variant,p.Ser493Asn,ENST00000038176,;NSMAF,missense_variant,p.Ser524Asn,ENST00000427130,;NSMAF,non_coding_transcript_exon_variant,,ENST00000523982,;NSMAF,upstream_gene_variant,,ENST00000523177,;NSMAF,downstream_gene_variant,,ENST00000519858,;NSMAF,non_coding_transcript_exon_variant,,ENST00000523106,;NSMAF,non_coding_transcript_exon_variant,,ENST00000519227,;NSMAF,upstream_gene_variant,,ENST00000519174,;NSMAF,upstream_gene_variant,,ENST00000524148,;	1759	89	85	SUCCESS
AGPAT5	55326	.	GRCh37	8	6590108	6590108	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	485	33	505	0	ENST00000285518.6:c.432T>C	p.Ser144=	p.S144=	ENST00000285518	NM_018361.3	144	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS34796.1	432	MUTECT|MUSE	.	CGCAGTGCCAA	NONE	.	.	hmmpanther:PTHR10983:SF17,hmmpanther:PTHR10983,Gene3D:1iuqA02,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000285518	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000285518	Transcript	.	.	ENSG00000155189	20886	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCE_HUMAN	AGPAT5	HGNC	Q6NUM7_HUMAN	.	UPI000003B4CB	SNV	AGPAT5,synonymous_variant,p.%3D,ENST00000285518,;AGPAT5,intron_variant,,ENST00000518327,;AGPAT5,3_prime_UTR_variant,,ENST00000523234,;AGPAT5,downstream_gene_variant,,ENST00000523586,;	744	505	519	SUCCESS
PDE7A	5150	.	GRCh37	8	66651737	66651737	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	87	248	0	ENST00000401827.3:c.595G>T	p.Val199Phe	p.V199F	ENST00000401827	NM_001242318.2	199	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS56538.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTAAAA	NONE	.	.	Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF96	.	.	ENSP00000385632	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000401827	Transcript	.	.	ENSG00000205268	8791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	PDE7A_HUMAN	PDE7A	HGNC	Q86V65_HUMAN,Q7Z7I0_HUMAN	.	UPI0000127BFD	SNV	PDE7A,missense_variant,p.Val173Phe,ENST00000379419,;PDE7A,missense_variant,p.Val199Phe,ENST00000401827,;PDE7A,missense_variant,p.Val199Phe,ENST00000396642,;MTFR1,intron_variant,,ENST00000521247,;MTFR1,intron_variant,,ENST00000527155,;PDE7A,splice_region_variant,,ENST00000518667,;	1039	248	225	SUCCESS
CPA6	57094	.	GRCh37	8	68658523	68658523	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	45	1	ENST00000297770.4:c.-159C>T		p.*53*	ENST00000297770	NM_020361.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6200.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAAGGGAAAAA	NONE	.	.	.	.	.	ENSP00000297770	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,5_prime_UTR_variant,,ENST00000297769,;CPA6,5_prime_UTR_variant,,ENST00000518549,;CPA6,5_prime_UTR_variant,,ENST00000297770,;CPA6,5_prime_UTR_variant,,ENST00000479862,;	58	46	31	SUCCESS
PREX2	80243	.	GRCh37	8	69020402	69020402	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs770609231	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	82	0	ENST00000288368.4:c.2774T>A	p.Ile925Asn	p.I925N	ENST00000288368	NM_024870.2	925	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS6201.1	2774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATCTCCC	BUFFER|p.S926P|c.2776T>C|5	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	24/40	.	.	.	.	.	.	.	.	rs770609231	24/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious(0.03)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ile925Asn,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;	3051	82	106	SUCCESS
C8orf34	116328	.	GRCh37	8	69445496	69445496	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	52	0	ENST00000518698.1:c.1105+112A>G		p.*369*	ENST00000518698	NM_052958.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6203.2	.	MUTECT|MUSE	.	AAGAAACCATT	NONE	.	.	.	.	.	ENSP00000427820	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000518698	Transcript	.	.	ENSG00000165084	30905	.	.	MODIFIER	7/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CH034_HUMAN	C8orf34	HGNC	.	.	UPI000021D12D	SNV	C8orf34,3_prime_UTR_variant,,ENST00000348340,;C8orf34,intron_variant,,ENST00000539993,;C8orf34,intron_variant,,ENST00000337103,;C8orf34,intron_variant,,ENST00000518698,;C8orf34,intron_variant,,ENST00000518515,;C8orf34,intron_variant,,ENST00000521406,;	.	52	59	SUCCESS
XKR9	389668	.	GRCh37	8	71593234	71593234	+	5_prime_UTR_variant	5'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	43	0	ENST00000408926.3:c.-54del		p.*18*	ENST00000408926	NM_001011720.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34905.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGGCTTTTTT	NONE	.	.	.	.	.	ENSP00000386141	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000408926	Transcript	.	.	ENSG00000221947	20937	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XKR9_HUMAN	XKR9	HGNC	E5RFF6_HUMAN	.	UPI00004C7A9F	deletion	XKR9,5_prime_UTR_variant,,ENST00000408926,;XKR9,5_prime_UTR_variant,,ENST00000520030,;XKR9,5_prime_UTR_variant,,ENST00000519350,;XKR9,intron_variant,,ENST00000520273,;XKR9,5_prime_UTR_variant,,ENST00000520092,;	475	43	62	SUCCESS
ZFHX4	79776	.	GRCh37	8	77776151	77776151	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	68	0	ENST00000521891.2:c.10201T>C	p.Tyr3401His	p.Y3401H	ENST00000521891	NM_024721.4	3401	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS47878.2	10201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTATGAG	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Tyr3356His,ENST00000455469,;ZFHX4,missense_variant,p.Tyr3375His,ENST00000518282,;ZFHX4,missense_variant,p.Tyr3352His,ENST00000050961,;ZFHX4,missense_variant,p.Tyr3401His,ENST00000521891,;	10649	68	68	SUCCESS
PSKH2	85481	.	GRCh37	8	87076416	87076416	+	synonymous_variant	Silent	SNP	G	G	A	rs376242267	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	48	120	0	ENST00000276616.2:c.630C>T	p.Ser210=	p.S210=	ENST00000276616	NM_033126.1	210	tcC/tcT	0	A:0.0002	.	.	.	.	A	S	protein_coding	YES	CCDS6240.1	630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGGAGTA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF135,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	A:0	ENSP00000276616	.	2/3	.	.	.	.	.	.	.	.	rs376242267,COSM1569530	2/3	PASS	ENST00000276616	Transcript	.	.	ENSG00000147613	18997	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KPSH2_HUMAN	PSKH2	HGNC	.	.	UPI000006F951	SNV	PSKH2,synonymous_variant,p.%3D,ENST00000276616,;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,non_coding_transcript_exon_variant,,ENST00000517981,;PSKH2,downstream_gene_variant,,ENST00000523010,;	705	120	122	SUCCESS
NBN	4683	.	GRCh37	8	90965666	90965666	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	33	72	0	ENST00000265433.3:c.1651del	p.Arg551GlyfsTer8	p.R551Gfs*8	ENST00000265433	NM_002485.4	551	Agg/gg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS6249.1	1651	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCCCTTTTTT	NONE	.	.	hmmpanther:PTHR12162,PIRSF_domain:PIRSF011869	.	.	ENSP00000265433	.	11/16	.	.	.	.	.	.	.	.	COSM1458549	11/16	PASS	ENST00000265433	Transcript	1	.	ENSG00000104320	7652	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	NBN_HUMAN	NBN	HGNC	E5RGR7_HUMAN,E5RGN7_HUMAN	.	UPI0000073BF4	deletion	NBN,frameshift_variant,p.Arg551GlyfsTer8,ENST00000265433,;NBN,frameshift_variant,p.Arg469GlyfsTer8,ENST00000409330,;NBN,3_prime_UTR_variant,,ENST00000396252,;	1806	72	109	SUCCESS
SLC26A7	115111	.	GRCh37	8	92352747	92352747	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	76	0	ENST00000276609.3:c.999del	p.Lys333AsnfsTer20	p.K333Nfs*20	ENST00000276609	NM_052832.2	332	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS6255.1	994	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGCCAAAAAA	NONE	.	.	hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000309504	.	8/19	.	.	.	.	.	.	.	.	COSM198381	8/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	5	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	deletion	SLC26A7,frameshift_variant,p.Lys201AsnfsTer32,ENST00000520818,;SLC26A7,frameshift_variant,p.Lys333AsnfsTer20,ENST00000276609,;SLC26A7,frameshift_variant,p.Lys333AsnfsTer20,ENST00000309536,;SLC26A7,frameshift_variant,p.Lys333AsnfsTer20,ENST00000523719,;SLC26A7,upstream_gene_variant,,ENST00000520249,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;	1214	76	101	SUCCESS
ESRP1	54845	.	GRCh37	8	95680213	95680213	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	123	0	ENST00000433389.2:c.968A>G	p.Glu323Gly	p.E323G	ENST00000433389	NM_001034915.2	323	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47897.1	968	RADIA|MUTECT|MUSE	.	CAAGGAAAATC	NONE	.	.	Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37	.	.	ENSP00000405738	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.613)	.	tolerated(0.42)	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,missense_variant,p.Glu323Gly,ENST00000433389,;ESRP1,missense_variant,p.Glu189Gly,ENST00000519505,;ESRP1,missense_variant,p.Glu182Gly,ENST00000517610,;ESRP1,missense_variant,p.Glu323Gly,ENST00000454170,;ESRP1,missense_variant,p.Glu323Gly,ENST00000423620,;ESRP1,missense_variant,p.Glu323Gly,ENST00000358397,;ESRP1,downstream_gene_variant,,ENST00000522756,;ESRP1,non_coding_transcript_exon_variant,,ENST00000517556,;	1158	123	113	SUCCESS
FOXE1	2304	.	GRCh37	9	100617015	100617015	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs751660227	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	29	213	0	ENST00000375123.3:c.822del	p.Ser275ProfsTer92	p.S275Pfs*92	ENST00000375123	NM_004473.3	273	aaC/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS35078.1	819	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCAACCCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF156	.	.	ENSP00000364265	.	1/1	.	.	.	.	.	.	.	.	rs751660227,rs779966006	1/1	PASS	ENST00000375123	Transcript	.	.	ENSG00000178919	3806	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXE1_HUMAN	FOXE1	HGNC	.	.	UPI0000167B2F	deletion	FOXE1,frameshift_variant,p.Ser275ProfsTer92,ENST00000375123,;	1480	213	172	SUCCESS
NANS	54187	.	GRCh37	9	100843305	100843305	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145067627	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	59	0	ENST00000210444.5:c.811C>T	p.Arg271Cys	p.R271C	ENST00000210444	NM_018946.3	271	Cgt/Tgt	0	T:0	T:0	.	T:0.0014	.	T	R/C	protein_coding	YES	CCDS6733.1	811	MUTECT|MUSE	.	TGGAGCGTGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23416,hmmpanther:PTHR23416:SF1,Pfam_domain:PF03102,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	T:0	T:0.0003	ENSP00000210444	T:0	5/6	.	.	.	.	.	.	.	.	rs145067627	5/6	PASS	ENST00000210444	Transcript	.	T:0.0002	ENSG00000095380	19237	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.67)	T:0	tolerated(0.05)	.	SIAS_HUMAN	NANS	HGNC	.	.	UPI000013597F	SNV	NANS,missense_variant,p.Arg79Cys,ENST00000427646,;NANS,missense_variant,p.Arg271Cys,ENST00000210444,;NANS,missense_variant,p.Arg130Cys,ENST00000415280,;TRIM14,intron_variant,,ENST00000375098,;TRIM14,downstream_gene_variant,,ENST00000342043,;TRIM14,downstream_gene_variant,,ENST00000341469,;NANS,non_coding_transcript_exon_variant,,ENST00000461452,;TRIM14,non_coding_transcript_exon_variant,,ENST00000478530,;NANS,downstream_gene_variant,,ENST00000495319,;	881	59	72	SUCCESS
COL15A1	1306	.	GRCh37	9	101748016	101748016	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	64	0	ENST00000375001.3:c.270C>A	p.Asp90Glu	p.D90E	ENST00000375001	NM_001855.4	90	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS35081.1	270	MUTECT|MUSE	.	AGGGACTTCGC	NONE	.	.	Pfam_domain:PF13385,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000364140	.	3/42	.	.	.	.	.	.	.	.	.	3/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Asp90Glu,ENST00000375001,;COL15A1,non_coding_transcript_exon_variant,,ENST00000471477,;	693	64	59	SUCCESS
INVS	27130	.	GRCh37	9	103054739	103054739	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370949695	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	83	235	0	ENST00000262457.2:c.2200C>T	p.Arg734Trp	p.R734W	ENST00000262457	NM_014425.3	734	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS6746.1	2200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGCGGTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24178	.	T:0	ENSP00000262457	.	14/17	.	.	.	.	.	.	.	.	rs370949695,COSM1103237	14/17	PASS	ENST00000262457	Transcript	.	.	ENSG00000119509	17870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.462)	.	deleterious_low_confidence(0.03)	0,1	INVS_HUMAN	INVS	HGNC	.	.	UPI000013D2BB	SNV	INVS,missense_variant,p.Arg734Trp,ENST00000262457,;INVS,missense_variant,p.Arg638Trp,ENST00000541287,;INVS,intron_variant,,ENST00000262456,;	2385	235	205	SUCCESS
LPPR1	0	.	GRCh37	9	104079724	104079724	+	synonymous_variant	Silent	SNP	A	A	G	rs1189469616	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	176	0	ENST00000374874.3:c.891A>G	p.Val297=	p.V297=	ENST00000374874	NM_207299.1	297	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6751.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTACCCCT	NONE	.	.	hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF41	.	.	ENSP00000364008	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000374874	Transcript	.	.	ENSG00000148123	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPPR1_HUMAN	LPPR1	Uniprot_gn	M9MML5_HUMAN,B7Z8R9_HUMAN	.	UPI0000034FFA	SNV	LPPR1,synonymous_variant,p.%3D,ENST00000395056,;LPPR1,synonymous_variant,p.%3D,ENST00000374874,;LPPR1,downstream_gene_variant,,ENST00000463206,;	1330	176	139	SUCCESS
RNF20	56254	.	GRCh37	9	104323458	104323458	+	synonymous_variant	Silent	SNP	C	C	T	rs767788496	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	260	9	259	0	ENST00000389120.3:c.2595C>T	p.Ile865=	p.I865=	ENST00000389120	NM_019592.6	865	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS35084.1	2595	MUTECT|MUSE	.	GAGATCGTGGA	NONE	byFrequency	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000373772	.	18/20	.	.	.	.	.	.	.	.	rs767788496	18/20	PASS	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,synonymous_variant,p.%3D,ENST00000389120,;RNF20,non_coding_transcript_exon_variant,,ENST00000478072,;	2685	259	269	SUCCESS
GRIN3A	116443	.	GRCh37	9	104340102	104340102	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs779656282	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	59	0	ENST00000361820.3:c.2956T>A	p.Ser986Thr	p.S986T	ENST00000361820	NM_133445.2	986	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS6758.1	2956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGATGTAT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	.	.	ENSP00000355155	.	8/9	.	.	.	.	.	.	.	.	rs779656282	8/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.76)	.	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,missense_variant,p.Ser986Thr,ENST00000361820,;	3557	59	42	SUCCESS
PTPN3	5774	.	GRCh37	9	112211195	112211195	+	intron_variant	Intron	SNP	A	A	G	rs953212796	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	64	143	0	ENST00000374541.2:c.369-60T>C		p.*123*	ENST00000374541	NM_001145368.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6776.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AAAAAAAAAGA	NONE	.	.	.	.	.	ENSP00000363667	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374541	Transcript	.	.	ENSG00000070159	9655	.	.	MODIFIER	5/25	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTN3_HUMAN	PTPN3	HGNC	B7Z8K9_HUMAN	.	UPI000013D2D2	SNV	PTPN3,5_prime_UTR_variant,,ENST00000446349,;PTPN3,5_prime_UTR_variant,,ENST00000412145,;PTPN3,intron_variant,,ENST00000262539,;PTPN3,intron_variant,,ENST00000374541,;	.	143	156	SUCCESS
SVEP1	79987	.	GRCh37	9	113341925	113341925	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	47	0	ENST00000374469.1:c.-171G>A		p.*57*	ENST00000374469				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48004.1	.	MUTECT|MUSE	.	CTGGGCGCGGG	NONE	.	.	.	.	.	ENSP00000384917	.	1/48	.	.	.	.	.	.	.	.	.	1/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,5_prime_UTR_variant,,ENST00000401783,;SVEP1,5_prime_UTR_variant,,ENST00000374469,;SVEP1,5_prime_UTR_variant,,ENST00000374461,;SVEP1,upstream_gene_variant,,ENST00000302728,;	236	47	36	SUCCESS
KIAA0368	0	.	GRCh37	9	114176260	114176260	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768257099	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	74	0	ENST00000259335.4:c.2528C>T	p.Pro843Leu	p.P843L	ENST00000259335	NM_001080398.1	843	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS48006.1	2528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCGGCAAA	NONE	byFrequency	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	21/51	.	.	.	.	.	.	.	.	rs768257099	21/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.25)	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Pro665Leu,ENST00000338205,;KIAA0368,missense_variant,p.Pro671Leu,ENST00000602447,;KIAA0368,missense_variant,p.Pro843Leu,ENST00000259335,;RNA5SP294,upstream_gene_variant,,ENST00000411306,;	2528	74	84	SUCCESS
SLC46A2	57864	.	GRCh37	9	115648748	115648748	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	55	138	0	ENST00000374228.4:c.1362T>A	p.Ile454=	p.I454=	ENST00000374228	NM_033051.3	454	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS6786.1	1362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGAATGAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF41,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000363345	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000374228	Transcript	.	.	ENSG00000119457	16055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSCOT_HUMAN	SLC46A2	HGNC	.	.	UPI0000049F9E	SNV	SLC46A2,synonymous_variant,p.%3D,ENST00000374228,;RP11-408O19.5,downstream_gene_variant,,ENST00000605480,;SNX30,downstream_gene_variant,,ENST00000604751,;SLC46A2,3_prime_UTR_variant,,ENST00000491462,;	1594	138	152	SUCCESS
ALAD	210	.	GRCh37	9	116153902	116153902	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1374282957	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	73	0	ENST00000409155.3:c.166T>C	p.Tyr56His	p.Y56H	ENST00000409155	NM_000031.5	56	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS6794.2	166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATACCTGT	NONE	.	.	hmmpanther:PTHR11458,hmmpanther:PTHR11458:SF0,Gene3D:3.20.20.70,Pfam_domain:PF00490,SMART_domains:SM01004,PIRSF_domain:PIRSF001415,Superfamily_domains:SSF51569	.	.	ENSP00000386284	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000409155	Transcript	.	.	ENSG00000148218	395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.404)	.	tolerated(0.06)	.	HEM2_HUMAN	ALAD	HGNC	.	.	UPI0000037431	SNV	ALAD,missense_variant,p.Tyr65His,ENST00000448137,;ALAD,missense_variant,p.Tyr39His,ENST00000277315,;ALAD,missense_variant,p.Tyr56His,ENST00000409155,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000445750,;ALAD,splice_region_variant,,ENST00000482001,;ALAD,splice_region_variant,,ENST00000482847,;ALAD,splice_region_variant,,ENST00000468504,;ALAD,intron_variant,,ENST00000464749,;ALAD,downstream_gene_variant,,ENST00000494848,;	363	73	60	SUCCESS
PAPPA	5069	.	GRCh37	9	119130003	119130003	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs777043767	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	21	150	0	ENST00000328252.3:c.4579del	p.His1527ThrfsTer3	p.H1527Tfs*3	ENST00000328252	NM_002581.3	1525	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS6813.1	4575	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACATCCCCCA	NONE	byFrequency	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347	.	.	ENSP00000330658	.	19/22	.	.	.	.	.	.	.	.	rs777043767	19/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	deletion	PAPPA,frameshift_variant,p.His1527ThrfsTer3,ENST00000328252,;PAPPA,frameshift_variant,p.His565ThrfsTer3,ENST00000534838,;	4944	150	165	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123171595	123171595	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	30	0	ENST00000349780.4:c.4415-1G>T		p.X1472_splice	ENST00000349780	NM_018249.5	1472		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6823.1	.	MUTECT|MUSE	.	TTTATCTGCAA	NONE	.	.	.	.	.	ENSP00000343818	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	HIGH	29/37	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,splice_acceptor_variant,,ENST00000416449,;CDK5RAP2,splice_acceptor_variant,,ENST00000349780,;CDK5RAP2,splice_acceptor_variant,,ENST00000360822,;CDK5RAP2,splice_acceptor_variant,,ENST00000425647,;CDK5RAP2,splice_acceptor_variant,,ENST00000360190,;CDK5RAP2,splice_acceptor_variant,,ENST00000359309,;CDK5RAP2,splice_acceptor_variant,,ENST00000480112,;CDK5RAP2,splice_acceptor_variant,,ENST00000473282,;CDK5RAP2,splice_acceptor_variant,,ENST00000483412,;	.	30	15	SUCCESS
FBXW2	26190	.	GRCh37	9	123533666	123533666	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	99	0	ENST00000608872.1:c.1036G>A	p.Gly346Ser	p.G346S	ENST00000608872	NM_012164.3	346	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS43872.1	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACCAAGTG	NONE	.	.	hmmpanther:PTHR22837,hmmpanther:PTHR22837:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000476369	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000608872	Transcript	.	.	ENSG00000119402	13608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	.	FBXW2	HGNC	Q4VXH1_HUMAN,B4DT60_HUMAN	.	UPI000006FE3A	SNV	FBXW2,missense_variant,p.Gly281Ser,ENST00000340778,;FBXW2,missense_variant,p.Gly346Ser,ENST00000608872,;FBXW2,downstream_gene_variant,,ENST00000453291,;FBXW2,non_coding_transcript_exon_variant,,ENST00000493559,;FBXW2,downstream_gene_variant,,ENST00000474117,;	1224	99	89	SUCCESS
DAB2IP	153090	.	GRCh37	9	124534910	124534910	+	synonymous_variant	Silent	SNP	G	G	A	rs759534596	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	89	0	ENST00000408936.3:c.2103G>A	p.Pro701=	p.P701=	ENST00000408936		701	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6833.2	2019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCGTCTCC	NONE	byFrequency	.	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Pfam_domain:PF12004	.	.	ENSP00000259371	.	12/17	.	.	.	.	.	.	.	.	rs759534596,COSM1104783,COSM1597928	12/17	PASS	ENST00000259371	Transcript	.	.	ENSG00000136848	17294	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	DAB2P_HUMAN	DAB2IP	HGNC	H0Y3A3_HUMAN,F8WA47_HUMAN,F6R503_HUMAN,B3KW96_HUMAN	.	UPI0000D77E70	SNV	DAB2IP,synonymous_variant,p.%3D,ENST00000408936,;DAB2IP,synonymous_variant,p.%3D,ENST00000259371,;DAB2IP,synonymous_variant,p.%3D,ENST00000373782,;DAB2IP,synonymous_variant,p.%3D,ENST00000309989,;DAB2IP,downstream_gene_variant,,ENST00000459906,;	2088	89	75	SUCCESS
PDCL	5082	.	GRCh37	9	125582601	125582601	+	synonymous_variant	Silent	SNP	G	G	A	rs202098297	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	28	77	0	ENST00000259467.4:c.669C>T	p.Gly223=	p.G223=	ENST00000259467	NM_005388.4	223	ggC/ggT	0	A:0	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS6845.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCCAAT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52833,Pfam_domain:PF02114,Gene3D:3.40.30.10,hmmpanther:PTHR21148:SF21,hmmpanther:PTHR21148	A:0.001	A:0.0002	ENSP00000259467	A:0.001	4/4	.	.	.	.	.	.	.	.	rs202098297	4/4	PASS	ENST00000259467	Transcript	.	A:0.0004	ENSG00000136940	8770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PHLP_HUMAN	PDCL	HGNC	Q9UNX2_HUMAN,Q9UNX1_HUMAN	.	UPI0000131988	SNV	PDCL,synonymous_variant,p.%3D,ENST00000259467,;PDCL,intron_variant,,ENST00000436632,;PDCL,downstream_gene_variant,,ENST00000394285,;	835	77	106	SUCCESS
ANGPTL2	23452	.	GRCh37	9	129854031	129854031	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	105	0	ENST00000373425.3:c.1200C>T	p.Tyr400=	p.Y400=	ENST00000373425	NM_012098.2	400	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6868.1	1200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGTAGCG	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF24,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000362524	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000373425	Transcript	.	.	ENSG00000136859	490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGL2_HUMAN	ANGPTL2	HGNC	Q8NCH7_HUMAN,Q8N2J9_HUMAN	.	UPI0000049E07	SNV	ANGPTL2,synonymous_variant,p.%3D,ENST00000373425,;ANGPTL2,synonymous_variant,p.%3D,ENST00000373417,;RALGPS1,intron_variant,,ENST00000394022,;RALGPS1,intron_variant,,ENST00000424082,;RALGPS1,intron_variant,,ENST00000373436,;RALGPS1,intron_variant,,ENST00000259351,;RALGPS1,intron_variant,,ENST00000373434,;	1818	105	93	SUCCESS
GARNL3	84253	.	GRCh37	9	130027161	130027161	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763857242	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	43	120	0	ENST00000373387.4:c.5T>C	p.Val2Ala	p.V2A	ENST00000373387	NM_032293.4	2	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6869.2	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGTAGTTG	NONE	.	.	.	.	.	ENSP00000362485	.	1/28	.	.	.	.	.	.	.	.	rs763857242	1/28	PASS	ENST00000373387	Transcript	.	.	ENSG00000136895	25425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious_low_confidence(0)	.	GARL3_HUMAN	GARNL3	HGNC	B4DH81_HUMAN	.	UPI0000EE56F2	SNV	GARNL3,missense_variant,p.Val2Ala,ENST00000314904,;GARNL3,missense_variant,p.Val2Ala,ENST00000373387,;GARNL3,intron_variant,,ENST00000425970,;GARNL3,intron_variant,,ENST00000446764,;GARNL3,intron_variant,,ENST00000439286,;GARNL3,intron_variant,,ENST00000444677,;GARNL3,intron_variant,,ENST00000435213,;GARNL3,splice_donor_variant,,ENST00000487565,;GARNL3,intron_variant,,ENST00000498801,;GARNL3,intron_variant,,ENST00000478702,;GARNL3,upstream_gene_variant,,ENST00000464616,;GARNL3,intron_variant,,ENST00000429629,;GARNL3,intron_variant,,ENST00000453030,;GARNL3,intron_variant,,ENST00000441134,;GARNL3,upstream_gene_variant,,ENST00000373386,;	357	120	104	SUCCESS
CDK9	1025	.	GRCh37	9	130551527	130551527	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	41	87	0	ENST00000373264.4:c.824T>C	p.Val275Ala	p.V275A	ENST00000373264	NM_001261.3	275	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6879.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGTGAAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF158,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362361	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373264	Transcript	.	.	ENSG00000136807	1780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CDK9_HUMAN	CDK9	HGNC	.	.	UPI000013D041	SNV	CDK9,missense_variant,p.Val392Ala,ENST00000373265,;CDK9,missense_variant,p.Val275Ala,ENST00000373264,;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,non_coding_transcript_exon_variant,,ENST00000498339,;CDK9,downstream_gene_variant,,ENST00000480353,;CDK9,downstream_gene_variant,,ENST00000491521,;	924	87	100	SUCCESS
NAIF1	203245	.	GRCh37	9	130829075	130829075	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	82	0	ENST00000373078.4:c.306C>T	p.Asp102=	p.D102=	ENST00000373078	NM_197956.3	102	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS6889.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCGTCCTC	NONE	.	.	hmmpanther:PTHR23098,hmmpanther:PTHR23098:SF5,Low_complexity_(Seg):seg	.	.	ENSP00000362170	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000373078	Transcript	.	.	ENSG00000171169	25446	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAIF1_HUMAN	NAIF1	HGNC	.	.	UPI0000160C94	SNV	NAIF1,synonymous_variant,p.%3D,ENST00000373078,;SLC25A25,upstream_gene_variant,,ENST00000373068,;SLC25A25,upstream_gene_variant,,ENST00000373069,;NAIF1,intron_variant,,ENST00000466139,;NAIF1,upstream_gene_variant,,ENST00000470245,;NAIF1,upstream_gene_variant,,ENST00000488519,;	526	82	66	SUCCESS
PTGES2	80142	.	GRCh37	9	130885323	130885323	+	synonymous_variant	Silent	SNP	C	C	T	rs201491985	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	56	0	ENST00000338961.6:c.777G>A	p.Ala259=	p.A259=	ENST00000338961	NM_025072.6	259	gcG/gcA	0	.	T:0	.	T:0.0014	.	T	A	protein_coding	YES	CCDS6891.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGACGCCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12782:SF5,hmmpanther:PTHR12782,Pfam_domain:PF14497,Superfamily_domains:SSF47616	T:0	.	ENSP00000345341	T:0	5/7	.	.	.	.	.	.	.	.	rs201491985,COSM3326436	5/7	PASS	ENST00000338961	Transcript	.	T:0.0002	ENSG00000148334	17822	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	PGES2_HUMAN	PTGES2	HGNC	A6NHH0_HUMAN	.	UPI000003F04A	SNV	PTGES2,synonymous_variant,p.%3D,ENST00000338961,;PTGES2,synonymous_variant,p.%3D,ENST00000449878,;PTGES2,synonymous_variant,p.%3D,ENST00000277462,;RP11-395P17.3,upstream_gene_variant,,ENST00000418747,;RP11-395P17.3,upstream_gene_variant,,ENST00000536815,;PTGES2,non_coding_transcript_exon_variant,,ENST00000487063,;PTGES2,non_coding_transcript_exon_variant,,ENST00000476748,;PTGES2,non_coding_transcript_exon_variant,,ENST00000483625,;PTGES2,non_coding_transcript_exon_variant,,ENST00000474124,;PTGES2,downstream_gene_variant,,ENST00000497109,;PTGES2,downstream_gene_variant,,ENST00000485237,;PTGES2,non_coding_transcript_exon_variant,,ENST00000493205,;PTGES2,non_coding_transcript_exon_variant,,ENST00000476655,;PTGES2,non_coding_transcript_exon_variant,,ENST00000496594,;PTGES2,downstream_gene_variant,,ENST00000485510,;	1522	56	51	SUCCESS
MPDZ	8777	.	GRCh37	9	13192209	13192209	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	102	0	ENST00000319217.7:c.1889G>A	p.Cys630Tyr	p.C630Y	ENST00000319217	NM_001261406.1	630	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47951.1	1889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCACACC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF10,hmmpanther:PTHR19964,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000439807	.	15/46	.	.	.	.	.	.	.	.	.	15/46	PASS	ENST00000541718	Transcript	.	.	ENSG00000107186	7208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MPDZ_HUMAN	MPDZ	HGNC	.	.	UPI00015367D3	SNV	MPDZ,missense_variant,p.Cys630Tyr,ENST00000319217,;MPDZ,missense_variant,p.Cys630Tyr,ENST00000546205,;MPDZ,missense_variant,p.Cys630Tyr,ENST00000381015,;MPDZ,missense_variant,p.Cys630Tyr,ENST00000536827,;MPDZ,missense_variant,p.Cys630Tyr,ENST00000381022,;MPDZ,missense_variant,p.Cys630Tyr,ENST00000447879,;MPDZ,missense_variant,p.Cys630Tyr,ENST00000541718,;MPDZ,upstream_gene_variant,,ENST00000539508,;	2111	102	101	SUCCESS
USP20	10868	.	GRCh37	9	132637022	132637022	+	synonymous_variant	Silent	SNP	C	C	T	rs749306581	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	80	0	ENST00000315480.4:c.1908C>T	p.His636=	p.H636=	ENST00000315480		636	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS43892.1	1908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCACGGCAC	NONE	byFrequency	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,PROSITE_patterns:PS00973,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000313811	.	18/25	.	.	.	.	.	.	.	.	rs749306581	18/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,synonymous_variant,p.%3D,ENST00000372429,;USP20,synonymous_variant,p.%3D,ENST00000358355,;USP20,synonymous_variant,p.%3D,ENST00000315480,;USP20,non_coding_transcript_exon_variant,,ENST00000474895,;USP20,upstream_gene_variant,,ENST00000496927,;USP20,downstream_gene_variant,,ENST00000491731,;USP20,upstream_gene_variant,,ENST00000472108,;	2066	80	75	SUCCESS
PRRC2B	84726	.	GRCh37	9	134353960	134353960	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	40	105	0	ENST00000357304.4:c.4712G>A	p.Arg1571His	p.R1571H	ENST00000357304	NM_013318.3	1571	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS48044.1	4712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	.	.	ENSP00000349856	.	17/31	.	.	.	.	.	.	.	.	COSM259604,COSM259605	17/31	PASS	ENST00000357304	Transcript	.	.	ENSG00000130723	28121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,missense_variant,p.Arg305His,ENST00000451855,;PRRC2B,missense_variant,p.Arg877His,ENST00000458550,;PRRC2B,missense_variant,p.Arg1571His,ENST00000357304,;PRRC2B,missense_variant,p.Arg877His,ENST00000405995,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,downstream_gene_variant,,ENST00000456307,;	4767	105	83	SUCCESS
SETX	23064	.	GRCh37	9	135140223	135140223	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	95	0	ENST00000224140.5:c.7437A>G	p.Ile2479Met	p.I2479M	ENST00000224140	NM_015046.5	2479	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS6947.1	7437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTATGGT	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336	.	.	ENSP00000224140	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000224140	Transcript	.	.	ENSG00000107290	445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	tolerated(0.17)	.	SETX_HUMAN	SETX	HGNC	.	.	UPI0000210D28	SNV	SETX,missense_variant,p.Ile2508Met,ENST00000372169,;SETX,missense_variant,p.Ile750Met,ENST00000436441,;SETX,missense_variant,p.Ile2446Met,ENST00000393220,;SETX,missense_variant,p.Ile2479Met,ENST00000224140,;SETX,non_coding_transcript_exon_variant,,ENST00000477049,;	7620	95	98	SUCCESS
GTF3C4	9329	.	GRCh37	9	135554338	135554338	+	synonymous_variant	Silent	SNP	C	C	T	rs144756359	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	133	0	ENST00000372146.4:c.1332C>T	p.Asp444=	p.D444=	ENST00000372146	NM_012204.2	444	gaC/gaT	0	T:0	.	.	.	.	T	D	protein_coding	YES	CCDS6953.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGACGGAAA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50978,hmmpanther:PTHR15496,hmmpanther:PTHR15496:SF1	.	T:0.0002	ENSP00000361219	.	2/5	.	.	.	.	.	.	.	.	rs144756359	2/5	PASS	ENST00000372146	Transcript	.	.	ENSG00000125484	4667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C4_HUMAN	GTF3C4	HGNC	B3KNH2_HUMAN	.	UPI000013CBAB	SNV	GTF3C4,synonymous_variant,p.%3D,ENST00000372146,;GTF3C4,3_prime_UTR_variant,,ENST00000483873,;	1896	133	118	SUCCESS
CEL	1056	.	GRCh37	9	135946790	135946790	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1201353524	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	15	0	ENST00000372080.4:c.1917del	p.Val640CysfsTer67	p.V640Cfs*67	ENST00000372080	NM_001807.4	637	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS43896.1	1910	INDELOCATOR|VARSCANI	.	CCGGGGCCCCCC	NONE	.	.	.	.	.	ENSP00000361151	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372080	Transcript	.	.	ENSG00000170835	1848	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CEL	HGNC	Q9UMB1_HUMAN	.	UPI000013E8C6	deletion	CEL,frameshift_variant,p.Val571CysfsTer67,ENST00000351304,;CEL,frameshift_variant,p.Val640CysfsTer67,ENST00000372080,;	1926	15	15	SUCCESS
CACFD1	11094	.	GRCh37	9	136330530	136330530	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	80	0	ENST00000316948.4:c.281A>T	p.Asp94Val	p.D94V	ENST00000316948	NM_017586.3	94	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS56591.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGACCGGC	NONE	.	.	hmmpanther:PTHR13314,Pfam_domain:PF10233,SMART_domains:SM01077	.	.	ENSP00000440832	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000540581	Transcript	.	.	ENSG00000160325	1365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	FLOWR_HUMAN	CACFD1	HGNC	.	.	UPI0002064E14	SNV	CACFD1,missense_variant,p.Asp66Val,ENST00000444798,;CACFD1,missense_variant,p.Asp94Val,ENST00000540581,;CACFD1,missense_variant,p.Asp94Val,ENST00000316948,;CACFD1,intron_variant,,ENST00000542192,;CACFD1,intron_variant,,ENST00000291722,;CACFD1,non_coding_transcript_exon_variant,,ENST00000489519,;CACFD1,non_coding_transcript_exon_variant,,ENST00000474734,;	358	80	62	SUCCESS
GPSM1	26086	.	GRCh37	9	139231495	139231495	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1352021155	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	115	0	ENST00000440944.1:c.544C>T	p.Arg182Ter	p.R182*	ENST00000440944	NM_001145638.2	182	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS48055.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCCGAGAG	NONE	.	.	hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36	.	.	ENSP00000392828	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,stop_gained,p.Arg182Ter,ENST00000440944,;GPSM1,stop_gained,p.Arg159Ter,ENST00000354753,;GPSM1,stop_gained,p.Arg182Ter,ENST00000392945,;	764	115	82	SUCCESS
SNAPC4	6621	.	GRCh37	9	139288750	139288750	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767158789	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	79	0	ENST00000298532.2:c.583T>C	p.Ser195Pro	p.S195P	ENST00000298532	NM_003086.2	195	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS6998.1	583	RADIA|MUTECT|MUSE	.	CACTGACTTTC	NONE	byFrequency	.	hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF191,SMART_domains:SM00717	.	.	ENSP00000298532	.	6/23	.	.	.	.	.	.	.	.	rs767158789	6/23	PASS	ENST00000298532	Transcript	.	.	ENSG00000165684	11137	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.665)	.	deleterious(0)	.	SNPC4_HUMAN	SNAPC4	HGNC	.	.	UPI000013E4EC	SNV	SNAPC4,missense_variant,p.Ser195Pro,ENST00000298532,;	952	79	75	SUCCESS
EGFL7	51162	.	GRCh37	9	139564144	139564144	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	106	0	ENST00000308874.7:c.284C>T	p.Thr95Ile	p.T95I	ENST00000308874		95	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7002.1	284	MUTECT|MUSE	.	GAGGACCAGCG	NONE	.	.	PROSITE_profiles:PS51041,hmmpanther:PTHR14949:SF21,hmmpanther:PTHR14949,Pfam_domain:PF07546,Superfamily_domains:SSF57184	.	.	ENSP00000360764	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000371699	Transcript	.	.	ENSG00000172889	20594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	tolerated(0.13)	.	EGFL7_HUMAN	EGFL7	HGNC	R4GMT3_HUMAN	.	UPI0000036A42	SNV	EGFL7,missense_variant,p.Thr95Ile,ENST00000308874,;EGFL7,missense_variant,p.Thr95Ile,ENST00000371698,;EGFL7,missense_variant,p.Thr95Ile,ENST00000371699,;EGFL7,missense_variant,p.Thr95Ile,ENST00000406555,;AGPAT2,downstream_gene_variant,,ENST00000371696,;EGFL7,downstream_gene_variant,,ENST00000492862,;AGPAT2,downstream_gene_variant,,ENST00000538402,;AGPAT2,downstream_gene_variant,,ENST00000371694,;MIR126,upstream_gene_variant,,ENST00000362291,;EGFL7,non_coding_transcript_exon_variant,,ENST00000492002,;EGFL7,downstream_gene_variant,,ENST00000490469,;AGPAT2,downstream_gene_variant,,ENST00000472820,;	1195	106	98	SUCCESS
C9orf172	0	.	GRCh37	9	139739564	139739564	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	18	0	ENST00000436881.1:c.698T>C	p.Met233Thr	p.M233T	ENST00000436881	NM_001080482.2	233	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS48059.1	698	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATGGCGC	NONE	.	.	hmmpanther:PTHR21517:SF2,hmmpanther:PTHR21517	.	.	ENSP00000412388	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000436881	Transcript	.	.	ENSG00000232434	37284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.19)	.	CI172_HUMAN	C9orf172	HGNC	.	.	UPI00015386B2	SNV	C9orf172,missense_variant,p.Met233Thr,ENST00000436881,;PHPT1,upstream_gene_variant,,ENST00000545326,;RABL6,downstream_gene_variant,,ENST00000435930,;RABL6,downstream_gene_variant,,ENST00000432842,;PHPT1,upstream_gene_variant,,ENST00000247665,;PHPT1,upstream_gene_variant,,ENST00000371661,;RABL6,downstream_gene_variant,,ENST00000371675,;RABL6,downstream_gene_variant,,ENST00000371663,;RABL6,downstream_gene_variant,,ENST00000357466,;RABL6,downstream_gene_variant,,ENST00000311502,;PHPT1,upstream_gene_variant,,ENST00000497413,;PHPT1,upstream_gene_variant,,ENST00000463215,;PHPT1,upstream_gene_variant,,ENST00000462205,;PHPT1,upstream_gene_variant,,ENST00000492540,;RABL6,downstream_gene_variant,,ENST00000464941,;RABL6,downstream_gene_variant,,ENST00000484471,;	698	18	14	SUCCESS
ZMYND19	116225	.	GRCh37	9	140477533	140477533	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	102	0	ENST00000298585.2:c.442C>T	p.Arg148Trp	p.R148W	ENST00000298585	NM_138462.2	148	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7048.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCGGGTCA	NONE	.	.	hmmpanther:PTHR13244:SF5,hmmpanther:PTHR13244	.	.	ENSP00000298585	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000298585	Transcript	.	.	ENSG00000165724	21146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.635)	.	deleterious(0.02)	.	ZMY19_HUMAN	ZMYND19	HGNC	.	.	UPI0000022A7D	SNV	ZMYND19,missense_variant,p.Arg148Trp,ENST00000298585,;DPH7,upstream_gene_variant,,ENST00000277540,;DPH7,upstream_gene_variant,,ENST00000481839,;ZMYND19,downstream_gene_variant,,ENST00000471957,;DPH7,upstream_gene_variant,,ENST00000470855,;DPH7,upstream_gene_variant,,ENST00000472113,;DPH7,upstream_gene_variant,,ENST00000460572,;DPH7,upstream_gene_variant,,ENST00000467768,;DPH7,upstream_gene_variant,,ENST00000479650,;DPH7,upstream_gene_variant,,ENST00000491359,;DPH7,upstream_gene_variant,,ENST00000476303,;DPH7,upstream_gene_variant,,ENST00000475100,;	669	102	89	SUCCESS
CACNA1B	774	.	GRCh37	9	140881287	140881287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	77	0	ENST00000371372.1:c.1955C>A	p.Ala652Asp	p.A652D	ENST00000371372	NM_001243812.1	652	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS59522.1	1955	RADIA|MUTECT|MUSE	.	TGCCGCCATCC	NONE	.	.	Prints_domain:PR00167,Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	15/47	.	.	.	.	.	.	.	.	.	15/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.591)	.	deleterious(0)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Ala653Asp,ENST00000371355,;CACNA1B,missense_variant,p.Ala653Asp,ENST00000371357,;CACNA1B,missense_variant,p.Ala652Asp,ENST00000277551,;CACNA1B,missense_variant,p.Ala652Asp,ENST00000371363,;CACNA1B,missense_variant,p.Ala652Asp,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	2100	77	62	SUCCESS
CACNA1B	774	.	GRCh37	9	140904524	140904524	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	100	0	ENST00000371372.1:c.2155A>G	p.Thr719Ala	p.T719A	ENST00000371372	NM_001243812.1	719	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS59522.1	2155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGACCAAG	NONE	.	.	hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000360423	.	17/47	.	.	.	.	.	.	.	.	.	17/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Thr720Ala,ENST00000371355,;CACNA1B,missense_variant,p.Thr720Ala,ENST00000371357,;CACNA1B,missense_variant,p.Thr719Ala,ENST00000277551,;CACNA1B,missense_variant,p.Thr719Ala,ENST00000371363,;CACNA1B,missense_variant,p.Thr719Ala,ENST00000371372,;CACNA1B,missense_variant,p.Thr10Ala,ENST00000277550,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	2300	101	104	SUCCESS
PSIP1	11168	.	GRCh37	9	15471197	15471198	+	intron_variant	Intron	INS	-	-	T	rs748522401	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	75	0	ENST00000380733.4:c.978-1207dup		p.*326*	ENST00000380733				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6479.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GATATATTTTT	NONE	.	.	.	.	.	ENSP00000370109	.	.	.	.	.	.	.	.	.	.	rs779196275	.	PASS	ENST00000380733	Transcript	.	.	ENSG00000164985	9527	.	.	MODIFIER	10/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSIP1_HUMAN	PSIP1	HGNC	Q8N4N4_HUMAN	.	UPI0000073FC4	insertion	PSIP1,3_prime_UTR_variant,,ENST00000397519,;PSIP1,3_prime_UTR_variant,,ENST00000380716,;PSIP1,3_prime_UTR_variant,,ENST00000380715,;PSIP1,intron_variant,,ENST00000481862,;PSIP1,intron_variant,,ENST00000380738,;PSIP1,intron_variant,,ENST00000380733,;PSIP1,downstream_gene_variant,,ENST00000495873,;	.	75	79	SUCCESS
DENND4C	55667	.	GRCh37	9	19296164	19296164	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	34	115	0	ENST00000602925.1:c.966del	p.Phe322LeufsTer55	p.F322Lfs*55	ENST00000602925	NM_017925.5	320	ccT/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS6491.3	960	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGCCTTTTTT	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000473565	.	6/32	.	.	.	.	.	.	.	.	.	6/32	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	deletion	DENND4C,frameshift_variant,p.Phe86LeufsTer55,ENST00000380432,;DENND4C,frameshift_variant,p.Phe322LeufsTer55,ENST00000434457,;DENND4C,frameshift_variant,p.Phe322LeufsTer55,ENST00000602925,;RP11-146N23.4,upstream_gene_variant,,ENST00000417577,;DENND4C,frameshift_variant,p.Phe95LeufsTer55,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	1376	115	146	SUCCESS
SMARCA2	6595	.	GRCh37	9	2047346	2047346	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	325	16	353	0	ENST00000349721.2:c.908C>A	p.Pro303His	p.P303H	ENST00000349721	NM_003070.3	303	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS34977.1	908	MUTECT|MUSE	.	AGTGCCCGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF541,hmmpanther:PTHR10799	.	.	ENSP00000371638	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.893)	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,missense_variant,p.Pro303His,ENST00000382194,;SMARCA2,missense_variant,p.Pro303His,ENST00000382203,;SMARCA2,missense_variant,p.Pro303His,ENST00000450198,;SMARCA2,missense_variant,p.Pro303His,ENST00000357248,;SMARCA2,missense_variant,p.Pro303His,ENST00000349721,;RP11-264I13.2,upstream_gene_variant,,ENST00000426860,;	1117	353	342	SUCCESS
ACO1	48	.	GRCh37	9	32450103	32450103	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	57	151	0	ENST00000309951.6:c.2664C>G	p.Ala888=	p.A888=	ENST00000309951	NM_002197.2	888	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6525.1	2664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCAAGTA	NONE	.	.	hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670	.	.	ENSP00000309477	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000309951	Transcript	.	.	ENSG00000122729	117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOC_HUMAN	ACO1	HGNC	Q9HBB2_HUMAN	.	UPI000012D87E	SNV	ACO1,synonymous_variant,p.%3D,ENST00000379923,;ACO1,synonymous_variant,p.%3D,ENST00000309951,;ACO1,synonymous_variant,p.%3D,ENST00000541043,;	2802	151	121	SUCCESS
C9orf131	138724	.	GRCh37	9	35044854	35044854	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749997376	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	61	1	ENST00000312292.5:c.2228G>A	p.Arg743His	p.R743H	ENST00000312292	NM_203299.2	743	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6572.2	2228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACGCACTC	NONE	byFrequency	.	hmmpanther:PTHR21777	.	.	ENSP00000308279	.	2/2	.	.	.	.	.	.	.	.	rs749997376	2/2	PASS	ENST00000312292	Transcript	.	.	ENSG00000174038	31418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	CI131_HUMAN	C9orf131	HGNC	.	.	UPI00001605AC	SNV	C9orf131,missense_variant,p.Arg695His,ENST00000421362,;C9orf131,missense_variant,p.Arg743His,ENST00000312292,;C9orf131,missense_variant,p.Arg670His,ENST00000354479,;C9orf131,downstream_gene_variant,,ENST00000378745,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000534880,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	2275	62	71	SUCCESS
UNC13B	10497	.	GRCh37	9	35399263	35399263	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	49	128	0	ENST00000378495.3:c.3933C>A	p.Pro1311=	p.P1311=	ENST00000378495	NM_006377.3	1311	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6579.1	3933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCCACT	NONE	.	.	PROSITE_profiles:PS51259,hmmpanther:PTHR10480,Pfam_domain:PF10540	.	.	ENSP00000367756	.	33/39	.	.	.	.	.	.	.	.	.	33/39	PASS	ENST00000378495	Transcript	.	.	ENSG00000198722	12566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13B_HUMAN	UNC13B	HGNC	.	.	UPI0000211336	SNV	UNC13B,synonymous_variant,p.%3D,ENST00000378495,;UNC13B,synonymous_variant,p.%3D,ENST00000396787,;UNC13B,synonymous_variant,p.%3D,ENST00000378496,;UNC13B,downstream_gene_variant,,ENST00000481299,;	4155	128	134	SUCCESS
RUSC2	9853	.	GRCh37	9	35558293	35558293	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748422585	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	60	0	ENST00000361226.3:c.3160G>A	p.Ala1054Thr	p.A1054T	ENST00000361226	NM_014806.2	1054	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS35008.1	3160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGCCTTT	NONE	byFrequency	.	PROSITE_profiles:PS50826,hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14,Pfam_domain:PF02759,Superfamily_domains:0052343	.	.	ENSP00000393922	.	7/12	.	.	.	.	.	.	.	.	rs748422585	7/12	PASS	ENST00000455600	Transcript	.	.	ENSG00000198853	23625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	tolerated(0.07)	.	RUSC2_HUMAN	RUSC2	HGNC	.	.	UPI00001C1EB0	SNV	RUSC2,missense_variant,p.Ala1054Thr,ENST00000361226,;RUSC2,missense_variant,p.Ala1054Thr,ENST00000455600,;FAM166B,downstream_gene_variant,,ENST00000399742,;FAM166B,downstream_gene_variant,,ENST00000478246,;FAM166B,downstream_gene_variant,,ENST00000480287,;FAM166B,downstream_gene_variant,,ENST00000492890,;FAM166B,downstream_gene_variant,,ENST00000447837,;	3729	60	48	SUCCESS
CD72	971	.	GRCh37	9	35618374	35618374	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	48	0	ENST00000259633.4:c.-74G>A		p.*25*	ENST00000259633	NM_001782.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6581.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCGTTTA	NONE	.	.	.	.	.	ENSP00000379980	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000396757	Transcript	.	.	ENSG00000137101	1696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD72_HUMAN	CD72	HGNC	Q5TLG3_HUMAN	.	UPI00001273AA	SNV	CD72,5_prime_UTR_variant,,ENST00000259633,;CD72,5_prime_UTR_variant,,ENST00000396757,;CD72,5_prime_UTR_variant,,ENST00000378430,;CD72,upstream_gene_variant,,ENST00000378431,;CD72,non_coding_transcript_exon_variant,,ENST00000490239,;CD72,intron_variant,,ENST00000470387,;CD72,intron_variant,,ENST00000465754,;CD72,upstream_gene_variant,,ENST00000482121,;CD72,upstream_gene_variant,,ENST00000477364,;CD72,upstream_gene_variant,,ENST00000463720,;	92	48	49	SUCCESS
CA9	768	.	GRCh37	9	35674060	35674060	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	82	0	ENST00000378357.4:c.104T>G	p.Val35Gly	p.V35G	ENST00000378357	NM_001216.2	35	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS6585.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTCCATC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18	.	.	ENSP00000367608	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000378357	Transcript	.	.	ENSG00000107159	1383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.04)	.	CAH9_HUMAN	CA9	HGNC	.	.	UPI000013E02C	SNV	CA9,missense_variant,p.Val35Gly,ENST00000378357,;ARHGEF39,upstream_gene_variant,,ENST00000378395,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000493245,;ARHGEF39,5_prime_UTR_variant,,ENST00000490638,;	208	82	87	SUCCESS
TLN1	7094	.	GRCh37	9	35705588	35705588	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779743307	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	74	0	ENST00000314888.9:c.5693C>T	p.Ser1898Leu	p.S1898L	ENST00000314888	NM_006289.3	1898	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS35009.1	5693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGAGGCC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF47220,Gene3D:1.20.1440.10,Pfam_domain:PF08913,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	43/57	.	.	.	.	.	.	.	.	rs779743307	43/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.3)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Ser1898Leu,ENST00000314888,;TLN1,intron_variant,,ENST00000540444,;TLN1,intron_variant,,ENST00000464379,;TLN1,downstream_gene_variant,,ENST00000495712,;TLN1,non_coding_transcript_exon_variant,,ENST00000486788,;TLN1,upstream_gene_variant,,ENST00000466916,;TLN1,upstream_gene_variant,,ENST00000465002,;	6047	74	75	SUCCESS
FRMPD1	22844	.	GRCh37	9	37707440	37707440	+	synonymous_variant	Silent	SNP	C	C	T	rs139243880	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	64	107	0	ENST00000377765.3:c.129C>T	p.Pro43=	p.P43=	ENST00000377765	NM_014907.2	43	ccC/ccT	0	T:0	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS6612.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCGCCAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436,Superfamily_domains:SSF50156	T:0	T:0.0001	ENSP00000444411	T:0.001	3/16	.	.	.	.	.	.	.	.	rs139243880	3/16	PASS	ENST00000539465	Transcript	.	T:0.0004	ENSG00000070601	29159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	FRPD1_HUMAN	FRMPD1	HGNC	F5H0G3_HUMAN	.	UPI000013D2CC	SNV	FRMPD1,synonymous_variant,p.%3D,ENST00000539465,;FRMPD1,synonymous_variant,p.%3D,ENST00000377765,;FRMPD1,synonymous_variant,p.%3D,ENST00000359927,;RP11-613M10.9,intron_variant,,ENST00000540557,;	722	107	143	SUCCESS
SLC25A51	92014	.	GRCh37	9	37888305	37888305	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	45	134	0	ENST00000242275.6:c.243T>A	p.Tyr81Ter	p.Y81*	ENST00000242275	NM_033412.3	81	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS6614.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGATACAA	NONE	.	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF253,PROSITE_profiles:PS50920	.	.	ENSP00000366945	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377716	Transcript	.	.	ENSG00000122696	23323	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2551_HUMAN	SLC25A51	HGNC	.	.	UPI000003615E	SNV	SLC25A51,stop_gained,p.Tyr81Ter,ENST00000377716,;SLC25A51,stop_gained,p.Tyr81Ter,ENST00000380590,;SLC25A51,stop_gained,p.Tyr81Ter,ENST00000242275,;SLC25A51,intron_variant,,ENST00000496760,;RP11-613M10.9,intron_variant,,ENST00000540557,;RP11-3J10.4,downstream_gene_variant,,ENST00000436507,;	987	134	144	SUCCESS
GLIS3	169792	.	GRCh37	9	4118184	4118184	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774124083	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	105	0	ENST00000324333.10:c.829C>T	p.Arg277Cys	p.R277C	ENST00000324333	NM_152629.3	277	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS43784.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGTTCGG	NONE	byFrequency	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF71	.	.	ENSP00000371398	.	4/11	.	.	.	.	.	.	.	.	rs774124083	4/11	PASS	ENST00000381971	Transcript	.	.	ENSG00000107249	28510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.22)	.	GLIS3_HUMAN	GLIS3	HGNC	Q1PHK4_HUMAN,Q1PHJ8_HUMAN,Q1PHJ7_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN	.	UPI0000DA4C5E	SNV	GLIS3,missense_variant,p.Arg277Cys,ENST00000324333,;GLIS3,missense_variant,p.Arg432Cys,ENST00000381971,;GLIS3,downstream_gene_variant,,ENST00000478315,;GLIS3,downstream_gene_variant,,ENST00000478844,;GLIS3,downstream_gene_variant,,ENST00000477901,;GLIS3,downstream_gene_variant,,ENST00000481827,;GLIS3,downstream_gene_variant,,ENST00000462164,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,downstream_gene_variant,,ENST00000490709,;GLIS3,downstream_gene_variant,,ENST00000491889,;GLIS3,upstream_gene_variant,,ENST00000467497,;	1888	105	100	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43629299	43629299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	94	0	ENST00000332857.6:c.211A>T	p.Arg71Trp	p.R71W	ENST00000332857	NM_001145196.1	71	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47973.1	211	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF15371	.	.	ENSP00000329825	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,missense_variant,p.Arg71Trp,ENST00000332857,;SPATA31A6,upstream_gene_variant,,ENST00000496386,;	240	94	76	SUCCESS
SPATA6L	55064	.	GRCh37	9	4666339	4666339	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	73	0	ENST00000461761.1:c.-89T>C		p.*30*	ENST00000461761				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43785.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTAGAGCA	NONE	.	.	.	.	.	ENSP00000417063	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000475086	Transcript	.	.	ENSG00000106686	25472	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPA6L_HUMAN	SPATA6L	HGNC	.	.	UPI00017A72EF	SNV	SPATA6L,5_prime_UTR_variant,,ENST00000381895,;SPATA6L,5_prime_UTR_variant,,ENST00000381890,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000454239,;PPAPDC2,downstream_gene_variant,,ENST00000381883,;SPATA6L,splice_region_variant,,ENST00000496798,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000485981,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000497383,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,splice_region_variant,,ENST00000486047,;SPATA6L,5_prime_UTR_variant,,ENST00000461761,;SPATA6L,5_prime_UTR_variant,,ENST00000406861,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,upstream_gene_variant,,ENST00000471669,;	.	73	87	SUCCESS
KIAA1432	0	.	GRCh37	9	5772941	5772941	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs565348578	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	86	0	ENST00000414202.2:c.3844G>A	p.Val1282Ile	p.V1282I	ENST00000414202	NM_001206557.1	1282	Gtt/Att	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS34982.2	3844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCGTTATA	NONE	by1000G	.	hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10	A:0	.	ENSP00000416696	A:0	25/26	.	.	.	.	.	.	.	.	rs565348578	25/26	PASS	ENST00000414202	Transcript	.	A:0.0002	ENSG00000107036	17686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0.001	tolerated(0.73)	.	RIC1_HUMAN	KIAA1432	HGNC	.	.	UPI00002110DE	SNV	KIAA1432,missense_variant,p.Val1166Ile,ENST00000449720,;KIAA1432,missense_variant,p.Val1174Ile,ENST00000545641,;KIAA1432,missense_variant,p.Val1203Ile,ENST00000418622,;KIAA1432,missense_variant,p.Val1282Ile,ENST00000414202,;KIAA1432,missense_variant,p.Val101Ile,ENST00000490816,;KIAA1432,downstream_gene_variant,,ENST00000381532,;KIAA1432,downstream_gene_variant,,ENST00000251879,;KIAA1432,3_prime_UTR_variant,,ENST00000545243,;ERMP1,intron_variant,,ENST00000462592,;KIAA1432,downstream_gene_variant,,ENST00000276898,;	4035	86	83	SUCCESS
C9orf135	138255	.	GRCh37	9	72435841	72435841	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs757022096	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	77	0	ENST00000377197.3:c.46C>T	p.Gln16Ter	p.Q16*	ENST00000377197	NM_001010940.1	16	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS35041.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCAACAC	NONE	byFrequency	.	.	.	.	ENSP00000366402	.	1/6	.	.	.	.	.	.	.	.	rs757022096	1/6	PASS	ENST00000377197	Transcript	.	.	ENSG00000204711	31422	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI135_HUMAN	C9orf135	HGNC	E9PIA3_HUMAN	.	UPI00001AEC57	SNV	C9orf135,stop_gained,p.Gln16Ter,ENST00000377197,;C9orf135,stop_gained,p.Gln16Ter,ENST00000527647,;C9orf135,upstream_gene_variant,,ENST00000480564,;C9orf135-AS1,upstream_gene_variant,,ENST00000526458,;C9orf135-AS1,upstream_gene_variant,,ENST00000453410,;C9orf135-AS1,upstream_gene_variant,,ENST00000439418,;C9orf135,non_coding_transcript_exon_variant,,ENST00000466872,;C9orf135,stop_gained,p.Gln3Ter,ENST00000495399,;C9orf135,stop_gained,p.Gln16Ter,ENST00000529131,;C9orf135,stop_gained,p.Gln16Ter,ENST00000529446,;	133	77	77	SUCCESS
ALDH1A1	216	.	GRCh37	9	75567885	75567885	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	46	126	0	ENST00000297785.3:c.32T>A	p.Val11Asp	p.V11D	ENST00000297785	NM_000689.4	11	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS6644.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGACAGGT	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF140	.	.	ENSP00000297785	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000297785	Transcript	.	.	ENSG00000165092	402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.52)	.	AL1A1_HUMAN	ALDH1A1	HGNC	Q5SYQ8_HUMAN,Q5SYQ7_HUMAN,B4DDF8_HUMAN	.	UPI0000000DC0	SNV	ALDH1A1,missense_variant,p.Val11Asp,ENST00000297785,;ALDH1A1,missense_variant,p.Val11Asp,ENST00000376939,;ALDH1A1,missense_variant,p.Val11Asp,ENST00000446946,;ALDH1A1,missense_variant,p.Val11Asp,ENST00000419959,;ALDH1A1,upstream_gene_variant,,ENST00000493113,;ALDH1A1,upstream_gene_variant,,ENST00000482210,;	87	126	128	SUCCESS
VPS13A	23230	.	GRCh37	9	79836219	79836219	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs770350986	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	119	0	ENST00000360280.3:c.1115del	p.Lys372SerfsTer2	p.K372Sfs*2	ENST00000360280	NM_033305.2	370	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS6655.1	1108	INDELOCATOR|VARSCANI	.	CTGTATAAAAAA	BUFFER|p.K372fs*2|c.1108delA|5,BUFFER|p.K372fs*2|c.1108delA|5,BUFFER|p.K372fs*2|c.1108delA|5	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	13/72	.	.	.	.	.	.	.	.	rs779822889,COSM1192850,COSM1192851,COSM1192852	13/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	.	.	.	0,1,1,1	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	deletion	VPS13A,frameshift_variant,p.Lys372SerfsTer2,ENST00000357409,;VPS13A,frameshift_variant,p.Lys372SerfsTer2,ENST00000376634,;VPS13A,frameshift_variant,p.Lys372SerfsTer2,ENST00000376636,;VPS13A,frameshift_variant,p.Lys372SerfsTer2,ENST00000360280,;	1368	119	116	SUCCESS
TLE4	7091	.	GRCh37	9	82333837	82333837	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	61	117	0	ENST00000376552.2:c.1541A>T	p.Asp514Val	p.D514V	ENST00000376552	NM_007005.3	514	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS43837.1	1541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGACATCA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000365735	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.Asp151Val,ENST00000376534,;TLE4,missense_variant,p.Asp514Val,ENST00000376552,;TLE4,missense_variant,p.Asp546Val,ENST00000376537,;TLE4,missense_variant,p.Asp445Val,ENST00000376544,;TLE4,missense_variant,p.Asp546Val,ENST00000376520,;TLE4,missense_variant,p.Asp489Val,ENST00000265284,;TLE4,missense_variant,p.Asp330Val,ENST00000496114,;TLE4,non_coding_transcript_exon_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;	2559	117	142	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84531495	84531495	+	non_coding_transcript_exon_variant	RNA	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	38	98	0	ENST00000527857.1:n.1520del		p.*507*	ENST00000527857				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAGTGTTTTGA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	deletion	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	1517	98	133	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84607569	84607569	+	synonymous_variant	Silent	SNP	T	T	A	rs145735905	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	190	129	310	0	ENST00000344803.2:c.2184T>A	p.Ile728=	p.I728=	ENST00000344803	NM_001001670.2	728	atT/atA	0	.	C:0	.	C:0	.	A	I	protein_coding	YES	CCDS47986.1	2184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATTCATGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859,Pfam_domain:PF14650	C:0.006	.	ENSP00000341988	C:0	4/4	.	.	.	.	.	.	.	.	rs145735905	4/4	PASS	ENST00000344803	Transcript	.	C:0.0014	ENSG00000214929	37283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,synonymous_variant,p.%3D,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	2231	310	319	SUCCESS
PTPRD	5789	.	GRCh37	9	8521421	8521421	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs769639520	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	92	0	ENST00000356435.5:c.817del	p.Ala273GlnfsTer4	p.A273Qfs*4	ENST00000356435		273	Gca/ca	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS43786.1	817	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTGCCCCCA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50835	.	.	ENSP00000370593	.	17/43	.	.	.	.	.	.	.	.	rs769639520,COSM1235141,COSM1235142,COSM1235140,COSM1235139	17/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	deletion	PTPRD,frameshift_variant,p.Ala263GlnfsTer4,ENST00000397617,;PTPRD,frameshift_variant,p.Ala273GlnfsTer4,ENST00000486161,;PTPRD,frameshift_variant,p.Ala260GlnfsTer4,ENST00000358503,;PTPRD,frameshift_variant,p.Ala260GlnfsTer4,ENST00000360074,;PTPRD,frameshift_variant,p.Ala273GlnfsTer4,ENST00000381196,;PTPRD,frameshift_variant,p.Ala263GlnfsTer4,ENST00000397606,;PTPRD,frameshift_variant,p.Ala273GlnfsTer4,ENST00000356435,;PTPRD,frameshift_variant,p.Ala273GlnfsTer4,ENST00000355233,;PTPRD,frameshift_variant,p.Ala270GlnfsTer4,ENST00000397611,;PTPRD,frameshift_variant,p.Ala273GlnfsTer4,ENST00000540109,;PTPRD,frameshift_variant,p.Ala270GlnfsTer4,ENST00000537002,;PTPRD,downstream_gene_variant,,ENST00000488774,;	1361	92	117	SUCCESS
KIF27	55582	.	GRCh37	9	86495341	86495341	+	synonymous_variant	Silent	SNP	A	A	G	rs1271329352	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	47	0	ENST00000297814.2:c.2514T>C	p.Ala838=	p.A838=	ENST00000297814	NM_017576.2	838	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6665.1	2514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTAGCACG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115	.	.	ENSP00000297814	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,synonymous_variant,p.%3D,ENST00000376347,;KIF27,synonymous_variant,p.%3D,ENST00000334204,;KIF27,synonymous_variant,p.%3D,ENST00000297814,;KIF27,intron_variant,,ENST00000413982,;	2658	47	54	SUCCESS
DAPK1	1612	.	GRCh37	9	90317988	90317988	+	synonymous_variant	Silent	SNP	G	G	A	rs370713535	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	46	122	0	ENST00000358077.5:c.2916G>A	p.Thr972=	p.T972=	ENST00000358077	NM_001288731.1	972	acG/acA	0	A:0	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS43842.1	2916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACGCTGCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964	A:0	A:0.0001	ENSP00000386135	A:0	25/26	.	.	.	.	.	.	.	.	rs370713535	25/26	common_in_exac	ENST00000408954	Transcript	.	A:0.0074	ENSG00000196730	2674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0378	.	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	SNV	DAPK1,synonymous_variant,p.%3D,ENST00000408954,;DAPK1,synonymous_variant,p.%3D,ENST00000358077,;DAPK1,synonymous_variant,p.%3D,ENST00000491893,;DAPK1,synonymous_variant,p.%3D,ENST00000469640,;DAPK1,synonymous_variant,p.%3D,ENST00000472284,;DAPK1,downstream_gene_variant,,ENST00000468482,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;	3251	122	118	SUCCESS
NXNL2	158046	.	GRCh37	9	91150438	91150438	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780563117	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	145	0	ENST00000375854.3:c.89C>T	p.Ala30Val	p.A30V	ENST00000375854	NM_001161625.1	30	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS55325.1	89	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCACTGT	NONE	.	.	hmmpanther:PTHR13871:SF24,hmmpanther:PTHR13871,Pfam_domain:PF13905,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000365014	.	1/2	.	.	.	.	.	.	.	.	rs780563117	1/2	PASS	ENST00000375854	Transcript	.	.	ENSG00000130045	30482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0.01)	.	NXNL2_HUMAN	NXNL2	HGNC	.	.	UPI00004588E9	SNV	NXNL2,missense_variant,p.Ala30Val,ENST00000375855,;NXNL2,missense_variant,p.Ala30Val,ENST00000375854,;NXNL2,non_coding_transcript_exon_variant,,ENST00000487646,;NXNL2,non_coding_transcript_exon_variant,,ENST00000478686,;	423	145	106	SUCCESS
S1PR3	1903	.	GRCh37	9	91617238	91617238	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1179229081	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	88	0	ENST00000358157.2:c.1123A>T	p.Ile375Phe	p.I375F	ENST00000358157	NM_005226.3	375	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS6680.1	1123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGATCTTC	NONE	.	.	hmmpanther:PTHR22750:SF24,hmmpanther:PTHR22750	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.17)	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,missense_variant,p.Ile375Phe,ENST00000358157,;S1PR3,missense_variant,p.Ile375Phe,ENST00000375846,;	5818	88	96	SUCCESS
ROR2	4920	.	GRCh37	9	94456665	94456665	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	47	0	ENST00000375715.1:c.2094C>T	p.Cys698=	p.C698=	ENST00000375715		698	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	.	.	2094	RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGCAGTG	NONE	.	.	.	.	.	ENSP00000364867	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000375715	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ROR2	HGNC	B1APY4_HUMAN	.	UPI0000458AA1	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375715,;	2691	47	60	SUCCESS
IARS	0	.	GRCh37	9	95021242	95021242	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	77	0	ENST00000375643.3:c.1910A>G	p.Asn637Ser	p.N637S	ENST00000375643	NM_013417.3	637	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6694.1	1910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGTTTTCT	NONE	.	.	HAMAP:MF_02003,hmmpanther:PTHR11946:SF11,hmmpanther:PTHR11946,TIGRFAM_domain:TIGR00392,Pfam_domain:PF00133,Superfamily_domains:SSF52374	.	.	ENSP00000364794	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000375643	Transcript	.	.	ENSG00000196305	5330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	tolerated(0.31)	.	SYIC_HUMAN	IARS	HGNC	Q9P1N9_HUMAN,Q7L4K8_HUMAN,Q5TCD1_HUMAN,Q5TCC4_HUMAN,Q59G75_HUMAN,J3KR24_HUMAN	.	UPI0000141335	SNV	IARS,missense_variant,p.Asn637Ser,ENST00000443024,;IARS,missense_variant,p.Asn637Ser,ENST00000375643,;IARS,missense_variant,p.Asn527Ser,ENST00000447699,;IARS,5_prime_UTR_variant,,ENST00000375629,;IARS,non_coding_transcript_exon_variant,,ENST00000472894,;	2177	77	73	SUCCESS
NOL8	55035	.	GRCh37	9	95077626	95077626	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	73	1	ENST00000442668.2:c.1281A>G	p.Leu427=	p.L427=	ENST00000442668	NM_017948.5	427	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47993.1	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTAGTTT	NONE	.	.	hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8	.	.	ENSP00000441140	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000545558	Transcript	.	.	ENSG00000198000	23387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL8_HUMAN	NOL8	HGNC	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN	.	UPI0000211A3D	SNV	NOL8,synonymous_variant,p.%3D,ENST00000545558,;NOL8,synonymous_variant,p.%3D,ENST00000358855,;NOL8,synonymous_variant,p.%3D,ENST00000442668,;NOL8,synonymous_variant,p.%3D,ENST00000535387,;NOL8,synonymous_variant,p.%3D,ENST00000542053,;NOL8,synonymous_variant,p.%3D,ENST00000432670,;NOL8,downstream_gene_variant,,ENST00000542613,;NOL8,downstream_gene_variant,,ENST00000433029,;NOL8,downstream_gene_variant,,ENST00000411621,;NOL8,downstream_gene_variant,,ENST00000536624,;NOL8,downstream_gene_variant,,ENST00000421075,;NOL8,downstream_gene_variant,,ENST00000535807,;NOL8,downstream_gene_variant,,ENST00000538215,;NOL8,downstream_gene_variant,,ENST00000543985,;NOL8,synonymous_variant,p.%3D,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000434228,;NOL8,intron_variant,,ENST00000545444,;NOL8,downstream_gene_variant,,ENST00000542573,;NOL8,upstream_gene_variant,,ENST00000538802,;NOL8,downstream_gene_variant,,ENST00000543260,;NOL8,downstream_gene_variant,,ENST00000544321,;NOL8,downstream_gene_variant,,ENST00000445919,;NOL8,downstream_gene_variant,,ENST00000467230,;	1774	74	88	SUCCESS
ECM2	1842	.	GRCh37	9	95263292	95263292	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781440673	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	46	147	0	ENST00000344604.5:c.1648G>A	p.Val550Ile	p.V550I	ENST00000344604	NM_001393.3	550	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS6698.1	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGACGTGAT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF56,hmmpanther:PTHR24371,Gene3D:3.80.10.10,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000344758	.	9/10	.	.	.	.	.	.	.	.	rs781440673	9/10	PASS	ENST00000344604	Transcript	.	.	ENSG00000106823	3154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	deleterious(0.03)	.	ECM2_HUMAN	ECM2	HGNC	Q5T9F4_HUMAN,B4DPC6_HUMAN	.	UPI0000129B80	SNV	ECM2,missense_variant,p.Val528Ile,ENST00000444490,;ECM2,missense_variant,p.Val550Ile,ENST00000344604,;CENPP,intron_variant,,ENST00000375587,;	1798	147	137	SUCCESS
PHF2	5253	.	GRCh37	9	96392278	96392278	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1250567429	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	87	1	ENST00000359246.4:c.125C>T	p.Ala42Val	p.A42V	ENST00000359246	NM_005392.3	42	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS35069.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGCCCG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,PROSITE_patterns:PS01359,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000352185	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,missense_variant,p.Ala42Val,ENST00000375376,;PHF2,missense_variant,p.Ala42Val,ENST00000359246,;	492	88	100	SUCCESS
ZNF510	22869	.	GRCh37	9	99521523	99521523	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs748855762	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	96	0	ENST00000223428.4:c.1589A>C	p.Asn530Thr	p.N530T	ENST00000223428	NM_014930.1	530	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS35074.1	1589	MUTECT|MUSE	.	TGAGGTTTGAC	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24392:SF21,hmmpanther:PTHR24392,PROSITE_profiles:PS50157	.	.	ENSP00000364379	.	6/6	.	.	.	.	.	.	.	.	rs748855762	6/6	PASS	ENST00000375231	Transcript	.	.	ENSG00000081386	29161	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.309)	.	tolerated(0.51)	.	ZN510_HUMAN	ZNF510	HGNC	Q6NUI8_HUMAN	.	UPI0000139E9E	SNV	ZNF510,missense_variant,p.Asn530Thr,ENST00000375231,;ZNF510,missense_variant,p.Asn530Thr,ENST00000223428,;ZNF510,downstream_gene_variant,,ENST00000374641,;ZNF510,downstream_gene_variant,,ENST00000472201,;	2240	96	87	SUCCESS
ZNF782	158431	.	GRCh37	9	99580289	99580289	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	9	153	0	ENST00000481138.1:c.2016A>G	p.Lys672=	p.K672=	ENST00000481138	NM_001001662.1	672	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS35075.1	2016	MUTECT|MUSE	.	TAGGGTTTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF111,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000419397	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000481138	Transcript	.	.	ENSG00000196597	33110	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN782_HUMAN	ZNF782	HGNC	G3V1K9_HUMAN,C9J9Y8_HUMAN	.	UPI00001D76E3	SNV	ZNF782,synonymous_variant,p.%3D,ENST00000289032,;ZNF782,synonymous_variant,p.%3D,ENST00000481138,;ZNF782,synonymous_variant,p.%3D,ENST00000535338,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,;	2678	153	146	SUCCESS
GUCY2F	2986	.	GRCh37	X	108691376	108691376	+	synonymous_variant	Silent	SNP	G	G	A	rs758037364	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	58	71	0	ENST00000218006.2:c.1491C>T	p.Ile497=	p.I497=	ENST00000218006	NM_001522.2	497	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS14545.1	1491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGATTTT	NONE	.	.	hmmpanther:PTHR11920:SF278,hmmpanther:PTHR11920	.	.	ENSP00000218006	.	6/20	.	.	.	.	.	.	.	.	rs758037364	6/20	PASS	ENST00000218006	Transcript	.	.	ENSG00000101890	4691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC2F_HUMAN	GUCY2F	HGNC	.	.	UPI000013C740	SNV	GUCY2F,synonymous_variant,p.%3D,ENST00000218006,;	1783	71	67	SUCCESS
AMOT	154796	.	GRCh37	X	112033910	112033910	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	68	103	0	ENST00000371959.3:c.2027C>A	p.Ala676Asp	p.A676D	ENST00000371959	NM_001113490.1	676	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS48154.1	2027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCAGCTTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF6,Pfam_domain:PF12240,Prints_domain:PR01807	.	.	ENSP00000361027	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000371959	Transcript	.	.	ENSG00000126016	17810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	AMOT_HUMAN	AMOT	HGNC	E7ERM3_HUMAN	.	UPI000050ED33	SNV	AMOT,missense_variant,p.Ala676Asp,ENST00000371959,;AMOT,missense_variant,p.Ala444Asp,ENST00000371962,;AMOT,missense_variant,p.Ala267Asp,ENST00000304758,;AMOT,missense_variant,p.Ala676Asp,ENST00000524145,;AMOT,missense_variant,p.Ala444Asp,ENST00000371958,;	2027	103	91	SUCCESS
KLHL13	90293	.	GRCh37	X	117106826	117106826	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs757947333	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	43	0	ENST00000262820.3:c.-35G>A		p.*12*	ENST00000262820	NM_033495.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55480.1	.	MUTECT|MUSE	.	AAGAGCGTTTC	NONE	.	.	.	.	.	ENSP00000443191	.	.	.	.	.	.	.	.	.	.	rs757947333	.	PASS	ENST00000539496	Transcript	.	.	ENSG00000003096	22931	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLH13_HUMAN	KLHL13	HGNC	Q96HC9_HUMAN,C9JTS9_HUMAN	.	UPI0001914B0F	SNV	KLHL13,5_prime_UTR_variant,,ENST00000447671,;KLHL13,5_prime_UTR_variant,,ENST00000262820,;KLHL13,intron_variant,,ENST00000540167,;KLHL13,intron_variant,,ENST00000469946,;KLHL13,intron_variant,,ENST00000539496,;KLHL13,intron_variant,,ENST00000371878,;KLHL13,intron_variant,,ENST00000453826,;KLHL13,intron_variant,,ENST00000371882,;KLHL13,intron_variant,,ENST00000545703,;KLHL13,intron_variant,,ENST00000541812,;	.	43	34	SUCCESS
BCORL1	63035	.	GRCh37	X	129185838	129185838	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	79	83	0	ENST00000218147.7:c.4700A>G	p.Glu1567Gly	p.E1567G	ENST00000218147		1567	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14616.1	4700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGAAAAAG	NONE	.	.	hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,missense_variant,p.Glu1241Gly,ENST00000456822,;BCORL1,missense_variant,p.Glu1567Gly,ENST00000540052,;BCORL1,missense_variant,p.Glu1641Gly,ENST00000303743,;BCORL1,missense_variant,p.Glu1567Gly,ENST00000218147,;BCORL1,missense_variant,p.Glu1437Gly,ENST00000359304,;	4744	83	89	SUCCESS
ZNF449	203523	.	GRCh37	X	134481753	134481753	+	intron_variant	Intron	DEL	T	T	-	rs782298363	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	170	219	0	ENST00000339249.4:c.354+362del		p.*118*	ENST00000339249	NM_152695.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14649.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAATGGTTTTTT	NONE	.	.	.	.	.	ENSP00000339585	.	.	.	.	.	.	.	.	.	.	rs782298363	.	PASS	ENST00000339249	Transcript	.	.	ENSG00000173275	21039	6	.	MODIFIER	2/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN449_HUMAN	ZNF449	HGNC	Q7Z3P1_HUMAN	.	UPI000013F1DE	deletion	ZNF449,3_prime_UTR_variant,,ENST00000370761,;ZNF449,intron_variant,,ENST00000370760,;ZNF449,intron_variant,,ENST00000339249,;ZNF75D,upstream_gene_variant,,ENST00000370766,;ZNF75D,upstream_gene_variant,,ENST00000494295,;	.	219	388	SUCCESS
GPR101	83550	.	GRCh37	X	136112908	136112909	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	48	0	ENST00000298110.1:c.925_926del	p.Ser309GlnfsTer12	p.S309Qfs*12	ENST00000298110	NM_054021.1	309	AGc/c	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS14662.1	925-926	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCTGCTCTCTC	NONE	.	.	Pfam_domain:PF00001,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	.	.	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	deletion	GPR101,frameshift_variant,p.Ser309GlnfsTer12,ENST00000298110,;	925-926	48	86	SUCCESS
CSF2RA	1438	.	GRCh37	X	1424529	1424529	+	intron_variant	Intron	SNP	G	G	A	rs756499032	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	312	240	576	0	ENST00000381524.3:c.1125+109G>A		p.*375*	ENST00000381524				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55359.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGACCGCAGCG	NONE	.	.	.	.	.	ENSP00000394227	.	.	.	.	.	.	.	.	.	.	COSM3964815	.	PASS	ENST00000417535	Transcript	.	.	ENSG00000198223	2435	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CSF2R_HUMAN	CSF2RA	HGNC	J3JS74_HUMAN,J3JS73_HUMAN	.	UPI000159C3E4	SNV	CSF2RA,synonymous_variant,p.%3D,ENST00000381509,;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000361536,;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000417535,;CSF2RA,intron_variant,,ENST00000381529,;CSF2RA,intron_variant,,ENST00000355432,;CSF2RA,intron_variant,,ENST00000355805,;CSF2RA,intron_variant,,ENST00000432318,;CSF2RA,intron_variant,,ENST00000381500,;CSF2RA,intron_variant,,ENST00000501036,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,intron_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000486791,;	.	576	552	SUCCESS
IDSP1	3424	.	GRCh37	X	148607575	148607575	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs1754501	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	73	209	0	ENST00000324799.4:n.369T>C		p.*123*	ENST00000324799				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTTCGCT	NONE	byFrequency	.	.	.	.	ENSP00000477056	.	.	.	.	.	.	.	.	.	.	rs1754501	.	PASS	ENST00000422081	Transcript	.	.	ENSG00000241489	5389	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IDS	Uniprot_gn	B4DIX1_HUMAN,B3KWA1_HUMAN	.	UPI0000EE78A2	SNV	IDS,intron_variant,,ENST00000541269,;IDS,intron_variant,,ENST00000422081,;IDS,upstream_gene_variant,,ENST00000521702,;AF011889.2,non_coding_transcript_exon_variant,,ENST00000370438,;LINC00893,downstream_gene_variant,,ENST00000609369,;LINC00893,downstream_gene_variant,,ENST00000412882,;LINC00893,downstream_gene_variant,,ENST00000437981,;LINC00893,downstream_gene_variant,,ENST00000596412,;LINC00893,downstream_gene_variant,,ENST00000431025,;IDS,intron_variant,,ENST00000523759,;IDS,intron_variant,,ENST00000427113,;IDS,intron_variant,,ENST00000441880,;IDSP1,non_coding_transcript_exon_variant,,ENST00000324799,;	.	209	109	SUCCESS
PNMA5	114824	.	GRCh37	X	152158844	152158844	+	synonymous_variant	Silent	SNP	G	G	A	rs953745389	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	47	57	0	ENST00000361887.5:c.1299C>T	p.Asn433=	p.N433=	ENST00000361887	NM_052926.2	433	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS14718.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGTTTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000388850	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439251	Transcript	.	.	ENSG00000198883	18743	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNMA5_HUMAN	PNMA5	HGNC	C9J4L3_HUMAN	.	UPI0000070F7D	SNV	PNMA5,synonymous_variant,p.%3D,ENST00000452693,;PNMA5,synonymous_variant,p.%3D,ENST00000439251,;PNMA5,synonymous_variant,p.%3D,ENST00000535214,;PNMA5,synonymous_variant,p.%3D,ENST00000361887,;PNMA5,downstream_gene_variant,,ENST00000437210,;RN7SL190P,downstream_gene_variant,,ENST00000582519,;	1738	57	63	SUCCESS
PLXNB3	5365	.	GRCh37	X	153030933	153030933	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	rs5987152	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	93	0	ENST00000361971.5:c.-52del		p.*18*	ENST00000361971	NM_005393.2			0	.	T:0.0507	.	T:0.0014	.	-	.	protein_coding	YES	CCDS55536.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAATGCCCCCC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	.	T:0	.	ENSP00000442736	T:0	2/37	.	.	.	.	.	.	.	.	rs5987152,TMP_ESP_X_153030933_153030933	2/37	PASS	ENST00000538966	Transcript	.	T:0.0180	ENSG00000198753	9105	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	deletion	PLXNB3,5_prime_UTR_variant,,ENST00000538543,;PLXNB3,5_prime_UTR_variant,,ENST00000538776,;PLXNB3,5_prime_UTR_variant,,ENST00000538966,;PLXNB3,5_prime_UTR_variant,,ENST00000361971,;PLXNB3,upstream_gene_variant,,ENST00000538282,;U52111.14,intron_variant,,ENST00000416854,;U52111.14,intron_variant,,ENST00000434284,;	117	93	141	SUCCESS
L1CAM	3897	.	GRCh37	X	153138119	153138119	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	67	109	0	ENST00000370060.1:c.125C>T	p.Pro42Leu	p.P42L	ENST00000370060	NM_001278116.1	42	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14733.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGGAGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Pro44Leu,ENST00000538883,;L1CAM,missense_variant,p.Pro37Leu,ENST00000407935,;L1CAM,missense_variant,p.Pro37Leu,ENST00000420165,;L1CAM,missense_variant,p.Pro42Leu,ENST00000458029,;L1CAM,missense_variant,p.Pro37Leu,ENST00000370055,;L1CAM,missense_variant,p.Pro37Leu,ENST00000361981,;L1CAM,missense_variant,p.Pro42Leu,ENST00000439496,;L1CAM,missense_variant,p.Pro44Leu,ENST00000543994,;L1CAM,missense_variant,p.Pro42Leu,ENST00000370057,;L1CAM,missense_variant,p.Pro42Leu,ENST00000370060,;L1CAM,missense_variant,p.Pro42Leu,ENST00000361699,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000484652,;L1CAM,downstream_gene_variant,,ENST00000460553,;	315	109	94	SUCCESS
MECP2	4204	.	GRCh37	X	153296806	153296806	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28934906	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	63	92	0	ENST00000303391.6:c.473C>T	p.Thr158Met	p.T158M	ENST00000303391	NM_004992.3	158	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS48193.1	509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TTACCGTGAAG	NONE	byCluster	.	PROSITE_profiles:PS50982,hmmpanther:PTHR15074:SF1,hmmpanther:PTHR15074,Pfam_domain:PF01429,Gene3D:3.30.890.10,SMART_domains:SM00391,PIRSF_domain:PIRSF038006,Superfamily_domains:SSF54171	.	.	ENSP00000395535	.	3/3	.	.	.	.	.	.	.	.	rs28934906,CM992178,RettBASE_c.473C>T,COSM3033684	3/3	PASS	ENST00000453960	Transcript	.	.	ENSG00000169057	6990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,1	.	17387578	probably_damaging(0.999)	.	deleterious(0)	0,0,0,1	MECP2_HUMAN	MECP2	HGNC	.	.	UPI0000253F1B	SNV	MECP2,missense_variant,p.Thr158Met,ENST00000303391,;MECP2,missense_variant,p.Thr170Met,ENST00000453960,;MECP2,intron_variant,,ENST00000407218,;MECP2,downstream_gene_variant,,ENST00000415944,;MECP2,non_coding_transcript_exon_variant,,ENST00000486506,;MECP2,downstream_gene_variant,,ENST00000488293,;MECP2,downstream_gene_variant,,ENST00000460227,;MECP2,downstream_gene_variant,,ENST00000496908,;MECP2,downstream_gene_variant,,ENST00000481807,;MECP2,downstream_gene_variant,,ENST00000463644,;MECP2,downstream_gene_variant,,ENST00000369957,;	564	92	73	SUCCESS
FLNA	2316	.	GRCh37	X	153599342	153599342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	84	0	ENST00000369850.3:c.272G>A	p.Arg91His	p.R91H	ENST00000369850	NM_001110556.1	91	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS48194.1	272	MUTECT|MUSE	.	GCTTGCGGTGC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000358866	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000369850	Transcript	.	.	ENSG00000196924	3754	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.323)	.	deleterious(0)	.	FLNA_HUMAN	FLNA	HGNC	Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN	.	UPI000013C596	SNV	FLNA,missense_variant,p.Arg91His,ENST00000344736,;FLNA,missense_variant,p.Arg91His,ENST00000422373,;FLNA,missense_variant,p.Arg91His,ENST00000369850,;FLNA,missense_variant,p.Arg91His,ENST00000360319,;FLNA,missense_variant,p.Arg77His,ENST00000420627,;	509	84	80	SUCCESS
SPRY3	10251	.	GRCh37	X	155004148	155004148	+	synonymous_variant	Silent	SNP	C	C	T	rs368582313	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	53	143	0	ENST00000302805.2:c.615C>T	p.Asn205=	p.N205=	ENST00000302805	NM_005840.1	205	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS14769.4	615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAACTGTGC	NONE	.	.	PROSITE_profiles:PS51227,hmmpanther:PTHR12365:SF9,hmmpanther:PTHR12365,Pfam_domain:PF05210	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,synonymous_variant,p.%3D,ENST00000302805,;	1046	143	142	SUCCESS
IL9R	3581	.	GRCh37	X	155239860	155239860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	10	145	0	ENST00000244174.5:c.1352G>T	p.Gly451Val	p.G451V	ENST00000244174	NM_002186.2	451	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS14771.4	1352	MUTECT|MUSE	.	TGGGGGATGGC	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.26)	.	tolerated(0.18)	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,missense_variant,p.Gly451Val,ENST00000244174,;IL9R,missense_variant,p.Gly430Val,ENST00000424344,;IL9R,3_prime_UTR_variant,,ENST00000369423,;IL9R,3_prime_UTR_variant,,ENST00000540897,;WASIR1,downstream_gene_variant,,ENST00000399966,;IL9R,downstream_gene_variant,,ENST00000494962,;AJ271736.10,intron_variant,,ENST00000483543,;	1531	145	123	SUCCESS
PLCXD1	55344	.	GRCh37	X	209880	209880	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778878421	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	34	191	0	ENST00000381657.2:c.728G>A	p.Arg243His	p.R243H	ENST00000381657	NM_018390.3	243	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14103.1	728	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCCCAG	NONE	.	.	hmmpanther:PTHR13593:SF24,hmmpanther:PTHR13593,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000371073	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000381657	Transcript	.	.	ENSG00000182378	23148	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.444)	.	deleterious(0.05)	.	PLCX1_HUMAN	PLCXD1	HGNC	K7EIC3_HUMAN,C9JP92_HUMAN	.	UPI0000048190	SNV	PLCXD1,missense_variant,p.Arg243His,ENST00000399012,;PLCXD1,missense_variant,p.Arg243His,ENST00000381657,;PLCXD1,missense_variant,p.Arg243His,ENST00000381663,;PLCXD1,downstream_gene_variant,,ENST00000445062,;PLCXD1,downstream_gene_variant,,ENST00000415337,;PLCXD1,downstream_gene_variant,,ENST00000443019,;PLCXD1,downstream_gene_variant,,ENST00000429181,;PLCXD1,downstream_gene_variant,,ENST00000430923,;PLCXD1,downstream_gene_variant,,ENST00000448477,;PLCXD1,downstream_gene_variant,,ENST00000447472,;PLCXD1,downstream_gene_variant,,ENST00000484611,;	1242	191	163	SUCCESS
SMS	6611	.	GRCh37	X	21958894	21958894	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	96	154	1	ENST00000404933.2:c.-49A>C		p.*17*	ENST00000404933	NM_004595.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14203.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCAGTCTC	NONE	.	.	.	.	.	ENSP00000385746	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000404933	Transcript	.	.	ENSG00000102172	11123	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPSY_HUMAN	SMS	HGNC	.	.	UPI0000135E88	SNV	SMS,5_prime_UTR_variant,,ENST00000379404,;SMS,5_prime_UTR_variant,,ENST00000415881,;SMS,5_prime_UTR_variant,,ENST00000404933,;SMS,upstream_gene_variant,,ENST00000457085,;SMS,upstream_gene_variant,,ENST00000478094,;LL0XNC01-39B3.1,downstream_gene_variant,,ENST00000603134,;	204	155	119	SUCCESS
DCAF8L2	347442	.	GRCh37	X	27765564	27765564	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	81	124	0	ENST00000451261.2:c.552A>G	p.Arg184=	p.R184=	ENST00000451261	NM_001136533.1	184	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS59162.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGACCTCG	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF36	.	.	ENSP00000462745	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000451261	Transcript	.	.	ENSG00000189186	31811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC8L2_HUMAN	DCAF8L2	HGNC	J3QRI4_HUMAN	.	UPI000183CBD9	SNV	DCAF8L2,synonymous_variant,p.%3D,ENST00000451261,;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;AC107613.1,non_coding_transcript_exon_variant,,ENST00000545306,;	951	124	101	SUCCESS
DMD	1756	.	GRCh37	X	31496268	31496268	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	33	52	0	ENST00000357033.4:c.8892C>T	p.Gly2964=	p.G2964=	ENST00000357033	NM_004007.2	2964	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS14233.1	8892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGCCCAC	BUFFER|p.V2963M|c.8887G>A|3,BUFFER|p.V2959M|c.8875G>A|3,BUFFER|p.V503M|c.1507G>A|3,BUFFER|p.V1622M|c.4864G>A|3,BUFFER|p.V2959M|c.8875G>A|3	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	59/79	.	.	.	.	.	.	.	.	.	59/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,synonymous_variant,p.%3D,ENST00000357033,;DMD,synonymous_variant,p.%3D,ENST00000358062,;DMD,synonymous_variant,p.%3D,ENST00000343523,;DMD,synonymous_variant,p.%3D,ENST00000378707,;DMD,synonymous_variant,p.%3D,ENST00000474231,;DMD,synonymous_variant,p.%3D,ENST00000378677,;DMD,synonymous_variant,p.%3D,ENST00000359836,;DMD,synonymous_variant,p.%3D,ENST00000541735,;DMD,downstream_gene_variant,,ENST00000445312,;	9099	52	46	SUCCESS
BCOR	54880	.	GRCh37	X	39930223	39930223	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	35	49	0	ENST00000378444.4:c.3238+3A>T		p.X1080_splice	ENST00000378444	NM_001123385.1	1080		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48093.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTACATC	NONE	.	.	.	.	.	ENSP00000367705	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378444	Transcript	.	.	ENSG00000183337	20893	.	.	LOW	6/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BCOR_HUMAN	BCOR	HGNC	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN	.	UPI00002318CF	SNV	BCOR,splice_region_variant,,ENST00000397354,;BCOR,splice_region_variant,,ENST00000378444,;BCOR,splice_region_variant,,ENST00000406200,;BCOR,splice_region_variant,,ENST00000378455,;BCOR,splice_region_variant,,ENST00000342274,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,downstream_gene_variant,,ENST00000490976,;	.	49	43	SUCCESS
KDM6A	7403	.	GRCh37	X	44833931	44833931	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	27	60	0	ENST00000377967.4:c.355T>C	p.Tyr119His	p.Y119H	ENST00000377967	NM_021140.2	119	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS14265.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGTACTAC	CODON|p.0?|c.1_4206del4206|5,CODON|p.0|c.226_654del429|3,BUFFER|p.Q117*|c.349C>T|3	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR14017:SF9,hmmpanther:PTHR14017,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000367203	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000377967	Transcript	.	.	ENSG00000147050	12637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.02)	.	KDM6A_HUMAN	KDM6A	HGNC	Q68D33_HUMAN,Q59HG3_HUMAN,Q590H7_HUMAN	.	UPI000013DA92	SNV	KDM6A,missense_variant,p.Tyr119His,ENST00000543216,;KDM6A,missense_variant,p.Tyr119His,ENST00000382899,;KDM6A,missense_variant,p.Tyr119His,ENST00000377967,;KDM6A,missense_variant,p.Tyr119His,ENST00000536777,;KDM6A,non_coding_transcript_exon_variant,,ENST00000475233,;	396	61	37	SUCCESS
CFP	5199	.	GRCh37	X	47486673	47486673	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	104	0	ENST00000247153.3:c.633T>C	p.Gly211=	p.G211=	ENST00000247153	NM_002621.2	211	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS14282.1	633	MUTECT|MUSE	.	GGTCCACCGTG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR22906,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000247153	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000247153	Transcript	.	.	ENSG00000126759	8864	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PROP_HUMAN	CFP	HGNC	E9PAQ1_HUMAN,C9J7V5_HUMAN	.	UPI0000132325	SNV	CFP,synonymous_variant,p.%3D,ENST00000377005,;CFP,synonymous_variant,p.%3D,ENST00000469388,;CFP,synonymous_variant,p.%3D,ENST00000247153,;CFP,synonymous_variant,p.%3D,ENST00000396992,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,upstream_gene_variant,,ENST00000478222,;	875	104	94	SUCCESS
MAGIX	79917	.	GRCh37	X	49021270	49021270	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	58	60	1	ENST00000412696.2:c.349C>T	p.Pro117Ser	p.P117S	ENST00000412696	NM_024859.2	117	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS48106.1	349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGCCATCC	NONE	.	.	hmmpanther:PTHR10316:SF5,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000387928	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000412696	Transcript	.	.	ENSG00000017621	30006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.39)	.	MAGIX_HUMAN	MAGIX	HGNC	.	.	UPI00018132AC	SNV	MAGIX,missense_variant,p.Pro63Ser,ENST00000425285,;MAGIX,missense_variant,p.Pro58Ser,ENST00000376338,;MAGIX,missense_variant,p.Pro86Ser,ENST00000415364,;MAGIX,missense_variant,p.Pro117Ser,ENST00000412696,;MAGIX,missense_variant,p.Pro58Ser,ENST00000376339,;MAGIX,intron_variant,,ENST00000458388,;MAGIX,intron_variant,,ENST00000425661,;MAGIX,intron_variant,,ENST00000454342,;MAGIX,non_coding_transcript_exon_variant,,ENST00000498742,;	349	61	68	SUCCESS
PPP1R3F	89801	.	GRCh37	X	49127168	49127168	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782769164	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	61	72	0	ENST00000055335.6:c.836G>A	p.Arg279His	p.R279H	ENST00000055335	NM_033215.4	279	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS35254.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCAACT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF5,Pfam_domain:PF03370	A:0	.	ENSP00000055335	A:0	1/4	.	.	.	.	.	.	.	.	rs782769164,COSM1122499	1/4	PASS	ENST00000055335	Transcript	.	A:0.0003	ENSG00000049769	14944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	A:0.001	deleterious(0.01)	0,1	PPR3F_HUMAN	PPP1R3F	HGNC	Q0D2I0_HUMAN	.	UPI00001D7BA8	SNV	PPP1R3F,missense_variant,p.Arg279His,ENST00000055335,;PPP1R3F,missense_variant,p.Arg29His,ENST00000471261,;PPP1R3F,5_prime_UTR_variant,,ENST00000438316,;PPP1R3F,5_prime_UTR_variant,,ENST00000466508,;PPP1R3F,intron_variant,,ENST00000495799,;LL0XNC01-7P3.1,upstream_gene_variant,,ENST00000602455,;	852	72	76	SUCCESS
WNK3	65267	.	GRCh37	X	54321142	54321142	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	43	38	0	ENST00000354646.2:c.1537T>A	p.Ser513Thr	p.S513T	ENST00000354646	NM_020922.4	513	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS14357.1	1537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGACTTGC	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	.	.	ENSP00000346667	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000354646	Transcript	.	.	ENSG00000196632	14543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.29)	.	WNK3_HUMAN	WNK3	HGNC	B1AQN8_HUMAN	.	UPI00001AF003	SNV	WNK3,missense_variant,p.Ser513Thr,ENST00000375159,;WNK3,missense_variant,p.Ser513Thr,ENST00000354646,;WNK3,missense_variant,p.Ser513Thr,ENST00000375169,;	1976	38	46	SUCCESS
KIAA2022	0	.	GRCh37	X	73963111	73963111	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	37	42	0	ENST00000055682.6:c.1281C>T	p.Gly427=	p.G427=	ENST00000055682	NM_001008537.2	427	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS35337.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGCCCTG	BUFFER|p.L429P|c.1286T>C|3	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,synonymous_variant,p.%3D,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	1893	42	44	SUCCESS
ATRX	546	.	GRCh37	X	76920179	76920179	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	23	53	0	ENST00000373344.5:c.3898A>G	p.Lys1300Glu	p.K1300E	ENST00000373344	NM_000489.3	1300	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14434.1	3898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTCCCTT	BUFFER|p.R1302fs*7|c.3904_3905insA|4,BUFFER|p.R1302fs*7|c.3904_3905insA|3	.	.	hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	.	ENSP00000362441	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,missense_variant,p.Lys1262Glu,ENST00000395603,;ATRX,missense_variant,p.Lys1300Glu,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;	4113	53	31	SUCCESS
ATRX	546	.	GRCh37	X	76937770	76937770	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	49	58	0	ENST00000373344.5:c.2978del	p.Lys993ArgfsTer10	p.K993Rfs*10	ENST00000373344	NM_000489.3	993	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS14434.1	2978	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTTCTTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	.	ENSP00000362441	.	9/35	.	.	.	.	.	.	.	.	COSM1469474,COSM1469473	9/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	deletion	ATRX,frameshift_variant,p.Lys955ArgfsTer10,ENST00000395603,;ATRX,frameshift_variant,p.Lys993ArgfsTer10,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;	3193	58	123	SUCCESS
VCX	26609	.	GRCh37	X	7811603	7811603	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369210177	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	90	0	ENST00000381059.3:c.167C>T	p.Ala56Val	p.A56V	ENST00000381059	NM_013452.2	56	gCg/gTg	0	T:0.0007	.	.	.	.	T	A/V	protein_coding	YES	CCDS14128.1	167	RADIA|VARSCANS	.	GGCTGCGACAA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231	.	T:0	ENSP00000370447	.	3/3	.	.	.	.	.	.	.	.	rs369210177	3/3	PASS	ENST00000381059	Transcript	.	.	ENSG00000182583	12667	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.03)	.	VCX1_HUMAN	VCX	HGNC	.	.	UPI0000138291	SNV	VCX,missense_variant,p.Ala56Val,ENST00000341408,;VCX,missense_variant,p.Ala56Val,ENST00000381059,;	386	90	93	SUCCESS
BRWD3	254065	.	GRCh37	X	79965042	79965042	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1337009699	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	61	69	0	ENST00000373275.4:c.2360G>A	p.Arg787His	p.R787H	ENST00000373275	NM_153252.4	787	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14447.1	2360	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCGTAAA	NONE	.	.	hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266	.	.	ENSP00000362372	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	deleterious(0.03)	.	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	SNV	BRWD3,missense_variant,p.Arg787His,ENST00000373275,;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;RP11-325E14.5,upstream_gene_variant,,ENST00000415494,;	2577	69	83	SUCCESS
KLHL4	56062	.	GRCh37	X	86877225	86877225	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	159	259	0	ENST00000373119.4:c.939G>T	p.Glu313Asp	p.E313D	ENST00000373119	NM_019117.4	313	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS14456.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAGGTAAT	NONE	.	.	SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF74,hmmpanther:PTHR24412	.	.	ENSP00000362206	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.16)	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,missense_variant,p.Glu313Asp,ENST00000373114,;KLHL4,missense_variant,p.Glu313Asp,ENST00000373119,;	1019	259	230	SUCCESS
PCDH11X	27328	.	GRCh37	X	91873881	91873881	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753981444	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	19	203	0	ENST00000373094.1:c.3986G>A	p.Arg1329His	p.R1329H	ENST00000373094	NM_032968.3	1329	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14461.1	3986	RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGCCAAC	NONE	byFrequency	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000362186	.	7/7	.	.	.	.	.	.	.	.	rs753981444,COSM3786785,COSM3786786	7/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.326)	.	deleterious_low_confidence(0)	0,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Arg1321His,ENST00000406881,;PCDH11X,missense_variant,p.Arg1319His,ENST00000373097,;PCDH11X,missense_variant,p.Arg1329His,ENST00000373094,;PCDH11X,missense_variant,p.Arg1292His,ENST00000373088,;PCDH11X,missense_variant,p.Arg1311His,ENST00000361655,;PCDH11X,missense_variant,p.Arg1292His,ENST00000298274,;PCDH11X,3_prime_UTR_variant,,ENST00000504220,;	4831	203	179	SUCCESS
SHROOM2	357	.	GRCh37	X	9866241	9866241	+	synonymous_variant	Silent	SNP	C	C	T	rs1384938317	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	126	248	0	ENST00000380913.3:c.2802C>T	p.Val934=	p.V934=	ENST00000380913	NM_001649.2	934	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14135.1	2802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCGAACT	NONE	.	.	hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8	.	.	ENSP00000370299	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000380913	Transcript	.	.	ENSG00000146950	630	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHRM2_HUMAN	SHROOM2	HGNC	F5H3B6_HUMAN,C9IZC6_HUMAN	.	UPI0000125D05	SNV	SHROOM2,synonymous_variant,p.%3D,ENST00000380913,;SHROOM2,non_coding_transcript_exon_variant,,ENST00000493668,;	2892	248	225	SUCCESS
SYTL4	94121	.	GRCh37	X	99943418	99943420	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	rs200492084	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	12	32	35	0	ENST00000263033.5:c.933_935del	p.Glu311del	p.E311del	ENST00000263033	NM_001129896.2	311	gaAGAc/gac	0	-:0.011	.	.	.	.	-	ED/D	protein_coding	YES	CCDS14472.1	933-935	INDELOCATOR|VARSCANI	.	TCAATGTCTTCTTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024	.	-:0.017	ENSP00000390252	.	11/18	.	.	.	.	.	.	.	.	rs200492084	11/18	common_in_exac	ENST00000455616	Transcript	.	-:0.0032	ENSG00000102362	15588	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYTL4_HUMAN	SYTL4	HGNC	B3KUZ4_HUMAN	.	UPI00001AE9F2	deletion	SYTL4,inframe_deletion,p.Glu311del,ENST00000372989,;SYTL4,inframe_deletion,p.Glu311del,ENST00000372981,;SYTL4,inframe_deletion,p.Glu313del,ENST00000454200,;SYTL4,inframe_deletion,p.Glu311del,ENST00000263033,;SYTL4,inframe_deletion,p.Glu311del,ENST00000455616,;SYTL4,inframe_deletion,p.Glu311del,ENST00000276141,;	1280-1282	35	45	SUCCESS
DDX3Y	8653	.	GRCh37	Y	15026814	15026814	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	109	163	0	ENST00000336079.3:c.778C>T	p.Arg260Cys	p.R260C	ENST00000336079	NM_001122665.1	260	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS14782.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCGCCGC	NONE	.	.	SMART_domains:SM00487,Pfam_domain:PF00270,Gene3D:3.40.50.300,hmmpanther:PTHR24031:SF195,hmmpanther:PTHR24031,PROSITE_profiles:PS51192	.	.	ENSP00000336725	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000336079	Transcript	1	.	ENSG00000067048	2699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.03)	.	DDX3Y_HUMAN	DDX3Y	HGNC	C9J8G5_HUMAN	.	UPI00000741D9	SNV	DDX3Y,missense_variant,p.Arg260Cys,ENST00000360160,;DDX3Y,missense_variant,p.Arg260Cys,ENST00000336079,;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,upstream_gene_variant,,ENST00000495478,;	884	163	135	SUCCESS
NLGN4Y	22829	.	GRCh37	Y	16942179	16942179	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	145	225	0	ENST00000339174.5:c.1381G>A	p.Ala461Thr	p.A461T	ENST00000339174		461	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14788.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGCGCAG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF195,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000348169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000355905	Transcript	.	.	ENSG00000165246	15529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.08)	.	NLGNY_HUMAN	NLGN4Y	HGNC	.	.	UPI000004770C	SNV	NLGN4Y,missense_variant,p.Ala461Thr,ENST00000339174,;NLGN4Y,missense_variant,p.Ala461Thr,ENST00000355905,;NLGN4Y,missense_variant,p.Ala518Thr,ENST00000382868,;NLGN4Y,missense_variant,p.Ala293Thr,ENST00000382872,;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	1633	225	174	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	5369160	5369160	+	synonymous_variant	Silent	SNP	A	A	T	rs764937552	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	253	353	1	ENST00000400457.2:c.3129A>T	p.Gly1043=	p.G1043=	ENST00000400457	NM_032973.2	1043	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	.	.	3192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGACTGGG	NONE	byFrequency	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000215473	.	3/6	.	.	.	.	.	.	.	.	rs764937552	3/6	PASS	ENST00000215473	Transcript	.	.	ENSG00000099715	15813	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH11Y	HGNC	Q70LR5_HUMAN,Q70LR4_HUMAN,J3QSR5_HUMAN	.	UPI0000D613B5	SNV	PCDH11Y,synonymous_variant,p.%3D,ENST00000215473,;PCDH11Y,synonymous_variant,p.%3D,ENST00000400457,;	3192	354	333	SUCCESS
CWF19L1	55280	.	GRCh37	10	102013179	102013179	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	rs150239404	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	98	0	ENST00000354105.4:c.622C>T	p.Arg208Ter	p.R208*	ENST00000354105	NM_018294.4	208	Cga/Tga	0	A:0.0002	.	.	.	.	A	R/*	protein_coding	YES	CCDS7489.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGATATG	NONE	byCluster	.	hmmpanther:PTHR12072:SF4,hmmpanther:PTHR12072	.	A:0.0002	ENSP00000326411	.	6/14	.	.	.	.	.	.	.	.	rs150239404	6/14	PASS	ENST00000354105	Transcript	.	.	ENSG00000095485	25613	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C19L1_HUMAN	CWF19L1	HGNC	D3DR67_HUMAN	.	UPI0000070B3E	SNV	CWF19L1,stop_gained,p.Arg208Ter,ENST00000354105,;CWF19L1,splice_region_variant,,ENST00000473842,;CWF19L1,splice_region_variant,,ENST00000496796,;CWF19L1,splice_region_variant,,ENST00000468709,;CWF19L1,splice_region_variant,,ENST00000482452,;CWF19L1,splice_region_variant,,ENST00000478047,;CWF19L1,splice_region_variant,,ENST00000466955,;PHBP9,downstream_gene_variant,,ENST00000453578,;	709	98	97	SUCCESS
MRPL43	84545	.	GRCh37	10	102747227	102747227	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	60	0	ENST00000318325.2:c.-27A>C		p.*9*	ENST00000318325	NM_176792.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7504.1	.	MUTECT|MUSE|VARSCANS	.	GAGCCTAAGCA	NONE	.	.	.	.	.	ENSP00000339844	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000342071	Transcript	.	.	ENSG00000055950	14517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MRPL43	HGNC	C9J5Q3_HUMAN	.	UPI0000167F88	SNV	MRPL43,5_prime_UTR_variant,,ENST00000299179,;MRPL43,5_prime_UTR_variant,,ENST00000370236,;MRPL43,5_prime_UTR_variant,,ENST00000318364,;MRPL43,5_prime_UTR_variant,,ENST00000342071,;MRPL43,5_prime_UTR_variant,,ENST00000477279,;MRPL43,5_prime_UTR_variant,,ENST00000318325,;MRPL43,5_prime_UTR_variant,,ENST00000370242,;MRPL43,5_prime_UTR_variant,,ENST00000370234,;MRPL43,upstream_gene_variant,,ENST00000370241,;SEMA4G,downstream_gene_variant,,ENST00000517724,;C10orf2,upstream_gene_variant,,ENST00000311916,;MRPL43,upstream_gene_variant,,ENST00000523148,;C10orf2,upstream_gene_variant,,ENST00000370228,;SEMA4G,downstream_gene_variant,,ENST00000476171,;SEMA4G,downstream_gene_variant,,ENST00000210633,;MRPL43,upstream_gene_variant,,ENST00000448244,;SEMA4G,downstream_gene_variant,,ENST00000370250,;RP11-108L7.4,upstream_gene_variant,,ENST00000447344,;C10orf2,non_coding_transcript_exon_variant,,ENST00000476766,;SEMA4G,downstream_gene_variant,,ENST00000484128,;C10orf2,upstream_gene_variant,,ENST00000473656,;C10orf2,upstream_gene_variant,,ENST00000459764,;MRPL43,upstream_gene_variant,,ENST00000493646,;MRPL43,upstream_gene_variant,,ENST00000476012,;MRPL43,non_coding_transcript_exon_variant,,ENST00000487059,;SEMA4G,downstream_gene_variant,,ENST00000521006,;	46	60	82	SUCCESS
INA	9118	.	GRCh37	10	105037736	105037736	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	25	146	0	ENST00000369849.4:c.768G>T	p.Val256=	p.V256=	ENST00000369849	NM_032727.3	256	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS7545.1	768	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGGCTAA	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132,Pfam_domain:PF00038	.	.	ENSP00000358865	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369849	Transcript	.	.	ENSG00000148798	6057	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AINX_HUMAN	INA	HGNC	B4DE66_HUMAN	.	UPI000012573C	SNV	INA,synonymous_variant,p.%3D,ENST00000369849,;	817	146	155	SUCCESS
GPAM	57678	.	GRCh37	10	113915955	113915955	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	24	0	ENST00000348367.4:c.2122-144G>A		p.*708*	ENST00000348367				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7570.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCTCATG	NONE	.	.	.	.	.	ENSP00000265276	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348367	Transcript	.	.	ENSG00000119927	24865	.	.	MODIFIER	19/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	SNV	GPAM,3_prime_UTR_variant,,ENST00000369425,;GPAM,intron_variant,,ENST00000348367,;GPAM,intron_variant,,ENST00000423155,;	.	24	19	SUCCESS
LHPP	64077	.	GRCh37	10	126205791	126205791	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	61	0	ENST00000368842.5:c.667G>T	p.Ala223Ser	p.A223S	ENST00000368842	NM_022126.3	223	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS7640.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTGCCCAG	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF29,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01458,Pfam_domain:PF13242,TIGRFAM_domain:TIGR01460,Superfamily_domains:SSF56784	.	.	ENSP00000357835	.	6/7	.	.	.	.	.	.	.	.	COSM915813	6/7	PASS	ENST00000368842	Transcript	.	.	ENSG00000107902	30042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.98)	.	tolerated(0.06)	1	LHPP_HUMAN	LHPP	HGNC	.	.	UPI00001402EE	SNV	LHPP,missense_variant,p.Ala223Ser,ENST00000368842,;LHPP,intron_variant,,ENST00000368839,;LHPP,non_coding_transcript_exon_variant,,ENST00000481452,;	695	61	69	SUCCESS
TTC40	0	.	GRCh37	10	134623929	134623929	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs138871633	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	39	102	0	ENST00000368586.5:c.7648C>T	p.Arg2550Ter	p.R2550*	ENST00000368586	NM_001200049.2	2550	Cga/Tga	0	A:0	A:0	.	A:0	.	A	R/*	protein_coding	YES	CCDS58101.1	7648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGTCGCC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0007	ENSP00000357575	A:0	57/58	.	.	.	.	.	.	.	.	rs138871633	57/58	common_in_exac	ENST00000368586	Transcript	.	A:0.0012	ENSG00000171811	25247	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0061	.	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,stop_gained,p.Arg711Ter,ENST00000263170,;TTC40,stop_gained,p.Arg2550Ter,ENST00000368586,;	7749	102	124	SUCCESS
CUBN	8029	.	GRCh37	10	16941072	16941072	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs750965233	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	28	143	0	ENST00000377833.4:c.8521A>G	p.Lys2841Glu	p.K2841E	ENST00000377833	NM_001081.3	2841	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS7113.1	8521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTTACTTT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	54/67	.	.	.	.	.	.	.	.	rs750965233	54/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.515)	.	tolerated(0.07)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Lys2841Glu,ENST00000377833,;	8587	144	167	SUCCESS
ANK3	288	.	GRCh37	10	62149211	62149211	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373407780	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	6	74	0	ENST00000280772.2:c.86G>A	p.Arg29His	p.R29H	ENST00000280772	NM_020987.3	29	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7258.1	86	MUTECT|MUSE	.	GTTTGCGGTGT	BUFFER|p.R26fs*21|c.76delA|3	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	T:0.0001	ENSP00000280772	.	1/44	.	.	.	.	.	.	.	.	rs373407780	1/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.744)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Arg29His,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000503366,;	278	74	93	SUCCESS
SEC24C	9632	.	GRCh37	10	75528787	75528787	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	28	98	0	ENST00000339365.2:c.2301T>C	p.Phe767=	p.F767=	ENST00000339365	NM_004922.3	767	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS7332.1	2301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGGAGC	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5,Pfam_domain:PF08033,Superfamily_domains:SSF81995	.	.	ENSP00000343405	.	18/24	.	.	.	.	.	.	.	.	COSM1349039	18/24	PASS	ENST00000339365	Transcript	.	.	ENSG00000176986	10705	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SC24C_HUMAN	SEC24C	HGNC	B4DZT4_HUMAN	.	UPI000013F621	SNV	SEC24C,synonymous_variant,p.%3D,ENST00000540668,;SEC24C,synonymous_variant,p.%3D,ENST00000345254,;SEC24C,synonymous_variant,p.%3D,ENST00000411652,;SEC24C,synonymous_variant,p.%3D,ENST00000339365,;SEC24C,synonymous_variant,p.%3D,ENST00000535742,;AC022400.2,downstream_gene_variant,,ENST00000595757,;SEC24C,downstream_gene_variant,,ENST00000546025,;FUT11,upstream_gene_variant,,ENST00000372841,;FUT11,upstream_gene_variant,,ENST00000394790,;SEC24C,non_coding_transcript_exon_variant,,ENST00000496827,;FUT11,upstream_gene_variant,,ENST00000465695,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,synonymous_variant,p.%3D,ENST00000465076,;	2463	98	128	SUCCESS
SH2D4B	387694	.	GRCh37	10	82297983	82297983	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	52	0	ENST00000339284.2:c.-105C>G		p.*35*	ENST00000339284	NM_207372.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7370.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCCCCGG	NONE	.	.	.	.	.	ENSP00000345295	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000339284	Transcript	.	.	ENSG00000178217	31440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH24B_HUMAN	SH2D4B	HGNC	.	.	UPI00002289C3	SNV	SH2D4B,5_prime_UTR_variant,,ENST00000339284,;SH2D4B,upstream_gene_variant,,ENST00000313455,;SH2D4B,upstream_gene_variant,,ENST00000470604,;RP11-137H2.4,upstream_gene_variant,,ENST00000417559,;	326	52	57	SUCCESS
LIPJ	142910	.	GRCh37	10	90356037	90356037	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	422	48	337	0	ENST00000371939.3:c.440G>A	p.Gly147Asp	p.G147D	ENST00000371939	NM_001010939.2	147	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31240.1	440	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGTTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF11,Pfam_domain:PF00561,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000862,Superfamily_domains:SSF53474	.	.	ENSP00000361007	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000371939	Transcript	.	.	ENSG00000204022	21773	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.79)	.	deleterious(0.02)	.	LIPJ_HUMAN	LIPJ	HGNC	.	.	UPI000013E51D	SNV	LIPJ,missense_variant,p.Gly147Asp,ENST00000371939,;LIPJ,missense_variant,p.Gly11Asp,ENST00000531458,;LIPJ,downstream_gene_variant,,ENST00000526923,;	754	337	470	SUCCESS
MYOF	26509	.	GRCh37	10	95134586	95134586	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	42	119	0	ENST00000359263.4:c.2235A>T	p.Thr745=	p.T745=	ENST00000359263	NM_013451.3	745	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41551.1	2235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTGTGGC	BUFFER|p.S742L|c.2225C>T|4	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38	.	.	ENSP00000352208	.	23/54	.	.	.	.	.	.	.	.	.	23/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,synonymous_variant,p.%3D,ENST00000371502,;MYOF,synonymous_variant,p.%3D,ENST00000358334,;MYOF,synonymous_variant,p.%3D,ENST00000371501,;MYOF,synonymous_variant,p.%3D,ENST00000359263,;MYOF,synonymous_variant,p.%3D,ENST00000463743,;	2235	119	138	SUCCESS
MUC6	4588	.	GRCh37	11	1024067	1024067	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752942783	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	77	0	ENST00000421673.2:c.3262G>A	p.Asp1088Asn	p.D1088N	ENST00000421673	NM_005961.2	1088	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS44513.1	3262	RADIA|MUTECT|MUSE	.	TGCGTCGCGCA	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264	.	.	ENSP00000406861	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Asp1088Asn,ENST00000421673,;MUC6,upstream_gene_variant,,ENST00000527242,;	3313	77	56	SUCCESS
HTR3B	9177	.	GRCh37	11	113803709	113803709	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	37	94	0	ENST00000260191.2:c.590A>G	p.Asp197Gly	p.D197G	ENST00000260191	NM_006028.4	197	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS8364.1	590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGACAAAA	NONE	.	.	hmmpanther:PTHR18945:SF53,hmmpanther:PTHR18945,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000260191	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000260191	Transcript	.	.	ENSG00000149305	5298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	5HT3B_HUMAN	HTR3B	HGNC	B3VRP0_HUMAN,B3VRN0_HUMAN,B3VRM0_HUMAN,B3VRL5_HUMAN,B3VRL0_HUMAN,B3VRK5_HUMAN	.	UPI0000073DA3	SNV	HTR3B,missense_variant,p.Asp197Gly,ENST00000260191,;HTR3B,missense_variant,p.Asp126Gly,ENST00000543092,;HTR3B,missense_variant,p.Asp186Gly,ENST00000537778,;	847	94	111	SUCCESS
C11orf71	54494	.	GRCh37	11	114262309	114262309	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	336	191	563	2	ENST00000325636.4:c.422T>C	p.Ile141Thr	p.I141T	ENST00000325636	NM_019021.3	141	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS8369.2	422	RADIA|VARSCANS	.	CAAAAATATTT	NONE	.	.	.	.	.	ENSP00000325508	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325636	Transcript	.	.	ENSG00000180425	25937	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	CK071_HUMAN	C11orf71	HGNC	.	.	UPI000037830C	SNV	C11orf71,missense_variant,p.Ile141Thr,ENST00000325636,;	508	565	527	SUCCESS
ROBO4	54538	.	GRCh37	11	124756912	124756912	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757860420	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	142	0	ENST00000306534.3:c.2396C>T	p.Ala799Val	p.A799V	ENST00000306534	NM_019055.5	799	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8455.1	2396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGCTACC	NONE	.	.	hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489	.	.	ENSP00000304945	.	15/18	.	.	.	.	.	.	.	.	rs757860420	15/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious(0.01)	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,missense_variant,p.Ala799Val,ENST00000306534,;ROBO4,missense_variant,p.Ala654Val,ENST00000533054,;RP11-664I21.6,upstream_gene_variant,,ENST00000524433,;RP11-664I21.5,intron_variant,,ENST00000524453,;ROBO4,non_coding_transcript_exon_variant,,ENST00000534407,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000525182,;	2882	142	118	SUCCESS
ABTB2	25841	.	GRCh37	11	34192494	34192494	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754239852	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	79	0	ENST00000435224.2:c.1522G>A	p.Glu508Lys	p.E508K	ENST00000435224	NM_145804.2	508	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7890.2	1522	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCGATGG	NONE	byFrequency	.	Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000410157	.	5/17	.	.	.	.	.	.	.	.	rs754239852	5/17	PASS	ENST00000435224	Transcript	.	.	ENSG00000166016	23842	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	tolerated(0.34)	.	ABTB2_HUMAN	ABTB2	HGNC	.	.	UPI0001DD21BB	SNV	ABTB2,missense_variant,p.Glu508Lys,ENST00000435224,;ABTB2,missense_variant,p.Glu322Lys,ENST00000298992,;ABTB2,downstream_gene_variant,,ENST00000530814,;	1947	79	73	SUCCESS
OR51G2	81282	.	GRCh37	11	4936102	4936102	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	34	154	0	ENST00000322013.3:c.792T>C	p.Ser264=	p.S264=	ENST00000322013	NM_001005238.1	264	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31365.1	792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAGAGAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF133,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000322593	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322013	Transcript	.	.	ENSG00000176893	15198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51G2_HUMAN	OR51G2	HGNC	.	.	UPI0000041C2F	SNV	OR51G2,synonymous_variant,p.%3D,ENST00000322013,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	821	154	153	SUCCESS
OR5M10	390167	.	GRCh37	11	56344374	56344374	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762888666	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	206	50	288	0	ENST00000526812.2:c.824C>T	p.Ala275Val	p.A275V	ENST00000526812	NM_001004741.1	275	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS53630.1	824	RADIA|MUTECT|MUSE|VARSCANS	.	AGACTGCAATT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,PROSITE_profiles:PS50262	.	.	ENSP00000436004	.	1/1	.	.	.	.	.	.	.	.	rs762888666	1/1	PASS	ENST00000526812	Transcript	.	.	ENSG00000254834	15290	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.938)	.	deleterious(0.02)	.	OR5MA_HUMAN	OR5M10	HGNC	.	.	UPI0000041BEE	SNV	OR5M10,missense_variant,p.Ala275Val,ENST00000526812,;	890	288	256	SUCCESS
INCENP	3619	.	GRCh37	11	61914264	61914264	+	synonymous_variant	Silent	SNP	C	C	G	rs759111475	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	12	77	1	ENST00000394818.3:c.2094C>G	p.Arg698=	p.R698=	ENST00000394818	NM_001040694.1	698	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS44624.1	2094	MUTECT|MUSE	.	CGGCGCGAGCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142,hmmpanther:PTHR13142:SF1	.	.	ENSP00000378295	.	15/19	.	.	.	.	.	.	.	.	rs759111475,COSM3752568	15/19	PASS	ENST00000394818	Transcript	.	.	ENSG00000149503	6058	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	INCE_HUMAN	INCENP	HGNC	E9PM67_HUMAN	.	UPI0000D7D6F3	SNV	INCENP,synonymous_variant,p.%3D,ENST00000278849,;INCENP,synonymous_variant,p.%3D,ENST00000394818,;	2296	78	66	SUCCESS
FAM160A2	0	.	GRCh37	11	6239274	6239275	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	42	0	ENST00000265978.4:c.1583_1584del	p.Ser528Ter	p.S528*	ENST00000265978	NM_032127.3	528	tCT/t	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS7760.1	1583-1584	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTCAGAGCCA	NONE	.	.	hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4	.	.	ENSP00000265978	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000265978	Transcript	.	.	ENSG00000051009	25378	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F16A2_HUMAN	FAM160A2	HGNC	.	.	UPI000013D6B5	deletion	FAM160A2,frameshift_variant,p.Ser528Ter,ENST00000265978,;FAM160A2,frameshift_variant,p.Ser514Ter,ENST00000449352,;FAM160A2,frameshift_variant,p.Ser514Ter,ENST00000524416,;FAM160A2,non_coding_transcript_exon_variant,,ENST00000532797,;FAM160A2,upstream_gene_variant,,ENST00000529360,;	1942-1943	42	47	SUCCESS
LGALS12	85329	.	GRCh37	11	63273832	63273832	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	37	0	ENST00000394618.3:c.-33T>G		p.*11*	ENST00000394618	NM_033101.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44633.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCTGCTCC	NONE	.	3	.	.	.	ENSP00000339374	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340246	Transcript	.	.	ENSG00000133317	15788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LGALS12	HGNC	G5E970_HUMAN	.	UPI000014130D	SNV	LGALS12,5_prime_UTR_variant,,ENST00000255684,;LGALS12,5_prime_UTR_variant,,ENST00000394618,;LGALS12,upstream_gene_variant,,ENST00000425950,;LGALS12,upstream_gene_variant,,ENST00000415491,;LGALS12,upstream_gene_variant,,ENST00000340246,;	.	37	24	SUCCESS
C11orf24	53838	.	GRCh37	11	68029219	68029219	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	17	118	0	ENST00000304271.6:c.1244C>G	p.Thr415Arg	p.T415R	ENST00000304271	NM_022338.3	415	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS8180.1	1244	RADIA|MUTECT|MUSE|VARSCANS	.	AGACTGTGATG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16021:SF9,hmmpanther:PTHR16021	.	.	ENSP00000307264	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304271	Transcript	.	.	ENSG00000171067	1174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	CK024_HUMAN	C11orf24	HGNC	E9PI63_HUMAN	.	UPI000006E42A	SNV	C11orf24,missense_variant,p.Thr415Arg,ENST00000304271,;C11orf24,intron_variant,,ENST00000533310,;C11orf24,downstream_gene_variant,,ENST00000527280,;C11orf24,non_coding_transcript_exon_variant,,ENST00000531745,;C11orf24,downstream_gene_variant,,ENST00000530166,;	1647	118	130	SUCCESS
PAK1	5058	.	GRCh37	11	77060308	77060308	+	synonymous_variant	Silent	SNP	T	T	A	rs751346040	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	111	0	ENST00000356341.3:c.861A>T	p.Ala287=	p.A287=	ENST00000356341	NM_002576.4	287	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44687.1	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATTGCTGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,PROSITE_profiles:PS50011	.	.	ENSP00000278568	.	9/16	.	.	.	.	.	.	.	.	rs751346040	9/16	PASS	ENST00000278568	Transcript	.	.	ENSG00000149269	8590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAK1_HUMAN	PAK1	HGNC	E9PRP6_HUMAN,E9PQW5_HUMAN,E9PMP2_HUMAN,E9PM17_HUMAN,E9PKH9_HUMAN,E9PJF8_HUMAN	.	UPI000013DB7F	SNV	PAK1,synonymous_variant,p.%3D,ENST00000278568,;PAK1,synonymous_variant,p.%3D,ENST00000356341,;PAK1,synonymous_variant,p.%3D,ENST00000530617,;PAK1,synonymous_variant,p.%3D,ENST00000533285,;PAK1,synonymous_variant,p.%3D,ENST00000528203,;PAK1,non_coding_transcript_exon_variant,,ENST00000525542,;PAK1,non_coding_transcript_exon_variant,,ENST00000532991,;PAK1,non_coding_transcript_exon_variant,,ENST00000530358,;PAK1,intron_variant,,ENST00000527457,;PAK1,downstream_gene_variant,,ENST00000526103,;PAK1,upstream_gene_variant,,ENST00000527535,;	1391	111	79	SUCCESS
TENM4	26011	.	GRCh37	11	78387340	78387340	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	53	0	ENST00000278550.7:c.5353C>G	p.His1785Asp	p.H1785D	ENST00000278550	NM_001098816.2	1785	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS44688.1	5353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTGGGGCT	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.His1785Asp,ENST00000278550,;TENM4,missense_variant,p.His249Asp,ENST00000530738,;	5816	53	56	SUCCESS
PNPLA2	57104	.	GRCh37	11	819708	819708	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs760059961	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	368	71	531	0	ENST00000336615.4:c.-11C>T		p.*4*	ENST00000336615	NM_020376.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7718.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCCGCCG	NONE	.	.	.	.	.	ENSP00000337701	.	2/10	.	.	.	.	.	.	.	.	rs760059961	2/10	PASS	ENST00000336615	Transcript	.	.	ENSG00000177666	30802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPL2_HUMAN	PNPLA2	HGNC	.	.	UPI000003731E	SNV	PNPLA2,5_prime_UTR_variant,,ENST00000336615,;AP006621.8,downstream_gene_variant,,ENST00000532946,;AP006621.8,downstream_gene_variant,,ENST00000528982,;PNPLA2,upstream_gene_variant,,ENST00000525250,;PNPLA2,upstream_gene_variant,,ENST00000526083,;PNPLA2,upstream_gene_variant,,ENST00000534561,;PNPLA2,upstream_gene_variant,,ENST00000529255,;PNPLA2,upstream_gene_variant,,ENST00000531923,;	192	531	439	SUCCESS
FAT3	120114	.	GRCh37	11	92533209	92533209	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778444762	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	4	97	0	ENST00000298047.6:c.7030G>A	p.Gly2344Ser	p.G2344S	ENST00000298047		2344	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	7030	MUTECT|MUSE	.	CAAGTGGCTTA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	rs778444762	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Gly2344Ser,ENST00000298047,;FAT3,missense_variant,p.Gly2344Ser,ENST00000409404,;FAT3,missense_variant,p.Gly2194Ser,ENST00000525166,;	7047	97	106	SUCCESS
BTBD11	121551	.	GRCh37	12	108013779	108013779	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	44	0	ENST00000280758.5:c.2469G>A	p.Leu823=	p.L823=	ENST00000280758	NM_001018072.1	823	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31893.1	2469	MUTECT|MUSE|VARSCANS	.	ACTCTGCACAC	NONE	.	.	hmmpanther:PTHR24413:SF76,hmmpanther:PTHR24413	.	.	ENSP00000280758	.	11/17	.	.	.	.	.	.	.	.	COSM3384001	11/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,synonymous_variant,p.%3D,ENST00000490090,;BTBD11,synonymous_variant,p.%3D,ENST00000280758,;BTBD11,synonymous_variant,p.%3D,ENST00000420571,;BTBD11,synonymous_variant,p.%3D,ENST00000357167,;RP11-128P10.1,upstream_gene_variant,,ENST00000548473,;	2997	44	61	SUCCESS
ARPC3	10094	.	GRCh37	12	110874389	110874389	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749007300	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	38	0	ENST00000228825.7:c.352G>A	p.Ala118Thr	p.A118T	ENST00000228825	NM_005719.2	118	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9146.1	352	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCATAAA	NONE	.	.	hmmpanther:PTHR12391:SF2,hmmpanther:PTHR12391,Gene3D:1k8kE00,Pfam_domain:PF04062,PIRSF_domain:PIRSF016315,Superfamily_domains:0039968	.	.	ENSP00000228825	.	5/7	.	.	.	.	.	.	.	.	rs749007300	5/7	PASS	ENST00000228825	Transcript	.	.	ENSG00000111229	706	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.41)	.	ARPC3_HUMAN	ARPC3	HGNC	F8VR50_HUMAN	.	UPI00001120BE	SNV	ARPC3,missense_variant,p.Ala118Thr,ENST00000228825,;ARPC3,intron_variant,,ENST00000426440,;ARPC3,downstream_gene_variant,,ENST00000547365,;ARPC3,non_coding_transcript_exon_variant,,ENST00000467622,;RP11-478C19.2,intron_variant,,ENST00000550231,;ARPC3,downstream_gene_variant,,ENST00000548878,;ARPC3,downstream_gene_variant,,ENST00000476566,;	499	38	57	SUCCESS
NOS1	4842	.	GRCh37	12	117768807	117768807	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs56308341	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	82	1	ENST00000317775.6:c.68G>A	p.Arg23His	p.R23H	ENST00000317775	NM_000620.4	23	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS55890.1	68	MUTECT|MUSE|VARSCANS	.	CTTTGCGCTTG	NONE	byCluster	.	Superfamily_domains:SSF50156,PIRSF_domain:PIRSF000333,Pfam_domain:PF00595,Gene3D:2.30.42.10,PROSITE_profiles:PS50106	.	.	ENSP00000337459	.	1/29	.	.	.	.	.	.	.	.	rs56308341	1/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Arg23His,ENST00000344089,;NOS1,missense_variant,p.Arg23His,ENST00000317775,;NOS1,missense_variant,p.Arg23His,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;	73	83	104	SUCCESS
CCDC60	160777	.	GRCh37	12	119957988	119957988	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	65	0	ENST00000327554.2:c.1031T>C	p.Leu344Pro	p.L344P	ENST00000327554	NM_178499.3	344	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9190.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTCAAAT	NONE	.	.	.	.	.	ENSP00000333374	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000327554	Transcript	.	.	ENSG00000183273	28610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.21)	.	CCD60_HUMAN	CCDC60	HGNC	F5H5H4_HUMAN	.	UPI000019906E	SNV	CCDC60,missense_variant,p.Leu344Pro,ENST00000327554,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;	1496	65	65	SUCCESS
DIABLO	56616	.	GRCh37	12	122710667	122710667	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	28	0	ENST00000443649.3:c.-106del		p.*36*	ENST00000443649	NM_019887.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9228.1	.	INDELOCATOR*|PINDEL	.	GCCACGCCCCCA	NONE	.	.	.	.	.	ENSP00000398495	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000443649	Transcript	.	.	ENSG00000184047	21528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DBLOH_HUMAN	DIABLO	HGNC	F5H796_HUMAN,F5H0Q4_HUMAN,F5GYH3_HUMAN,F5GX50_HUMAN	.	UPI0000000CBE	deletion	DIABLO,5_prime_UTR_variant,,ENST00000413918,;DIABLO,5_prime_UTR_variant,,ENST00000443649,;DIABLO,intron_variant,,ENST00000485724,;DIABLO,upstream_gene_variant,,ENST00000540535,;DIABLO,upstream_gene_variant,,ENST00000267169,;DIABLO,upstream_gene_variant,,ENST00000541656,;VPS33A,downstream_gene_variant,,ENST00000267199,;DIABLO,upstream_gene_variant,,ENST00000353548,;DIABLO,upstream_gene_variant,,ENST00000464942,;DIABLO,upstream_gene_variant,,ENST00000541273,;DIABLO,upstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000475784,;RP11-512M8.5,intron_variant,,ENST00000535844,;DIABLO,upstream_gene_variant,,ENST00000342392,;	713	28	45	SUCCESS
KRT3	3850	.	GRCh37	12	53185541	53185541	+	synonymous_variant	Silent	SNP	G	G	A	rs141642714	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	72	0	ENST00000417996.2:c.1248C>T	p.Ser416=	p.S416=	ENST00000417996	NM_057088.2	416	agC/agT	0	.	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS44895.1	1248	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCGCTCTT	NONE	byFrequency|byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF140,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01276	A:0.002	.	ENSP00000413479	A:0	6/9	.	.	.	.	.	.	.	.	rs141642714	6/9	PASS	ENST00000417996	Transcript	.	A:0.0004	ENSG00000186442	6440	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	K2C3_HUMAN	KRT3	HGNC	.	.	UPI000013EEC8	SNV	KRT3,synonymous_variant,p.%3D,ENST00000309505,;KRT3,synonymous_variant,p.%3D,ENST00000417996,;	1323	72	68	SUCCESS
ITGB7	3695	.	GRCh37	12	53585410	53585410	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	103	0	ENST00000267082.5:c.2327C>T	p.Pro776Leu	p.P776L	ENST00000267082	NM_000889.1	776	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8849.1	2327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGGATTA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF36,Pfam_domain:PF08725,Gene3D:1.20.5.100,PIRSF_domain:PIRSF002512	.	.	ENSP00000267082	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000267082	Transcript	.	.	ENSG00000139626	6162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITB7_HUMAN	ITGB7	HGNC	H3BRM2_HUMAN,F8W186_HUMAN,F8VNX4_HUMAN,B7Z506_HUMAN	.	UPI0000000DF7	SNV	ITGB7,missense_variant,p.Pro776Leu,ENST00000267082,;ITGB7,missense_variant,p.Pro776Leu,ENST00000422257,;ITGB7,missense_variant,p.Pro628Leu,ENST00000338737,;ITGB7,missense_variant,p.Pro628Leu,ENST00000550743,;ITGB7,3_prime_UTR_variant,,ENST00000551319,;ZNF740,downstream_gene_variant,,ENST00000416904,;ZNF740,downstream_gene_variant,,ENST00000551514,;ITGB7,3_prime_UTR_variant,,ENST00000542497,;ITGB7,downstream_gene_variant,,ENST00000548269,;ITGB7,downstream_gene_variant,,ENST00000551887,;ITGB7,downstream_gene_variant,,ENST00000589179,;ITGB7,downstream_gene_variant,,ENST00000549196,;ITGB7,downstream_gene_variant,,ENST00000549462,;ZNF740,downstream_gene_variant,,ENST00000549739,;ITGB7,downstream_gene_variant,,ENST00000548706,;	2559	103	103	SUCCESS
RPL41	6171	.	GRCh37	12	56510528	56510528	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	38	120	0	ENST00000501597.3:c.-13-31C>G		p.*5*	ENST00000501597	NM_021104.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44919.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAACTAACT	NONE	.	.	.	.	.	ENSP00000449026	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000546591	Transcript	.	.	ENSG00000229117	10354	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL41_HUMAN	RPL41	HGNC	.	.	UPI0000000DDF	SNV	RPL41,5_prime_UTR_variant,,ENST00000546591,;RPL41,intron_variant,,ENST00000501597,;ZC3H10,upstream_gene_variant,,ENST00000257940,;ZC3H10,upstream_gene_variant,,ENST00000546903,;PA2G4,downstream_gene_variant,,ENST00000552766,;ZC3H10,upstream_gene_variant,,ENST00000551880,;PA2G4,downstream_gene_variant,,ENST00000303305,;ESYT1,upstream_gene_variant,,ENST00000551790,;ZC3H10,upstream_gene_variant,,ENST00000552345,;RP11-603J24.5,downstream_gene_variant,,ENST00000549438,;RP11-603J24.5,downstream_gene_variant,,ENST00000550947,;RP11-603J24.6,downstream_gene_variant,,ENST00000550840,;RP11-603J24.17,upstream_gene_variant,,ENST00000548595,;RPL41,intron_variant,,ENST00000358888,;RPL41,intron_variant,,ENST00000546485,;RPL41,upstream_gene_variant,,ENST00000546654,;ZC3H10,upstream_gene_variant,,ENST00000549973,;RPL41,upstream_gene_variant,,ENST00000552314,;	159	120	155	SUCCESS
MON2	23041	.	GRCh37	12	62902146	62902146	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	8	154	0	ENST00000393630.3:c.870A>G	p.Arg290=	p.R290=	ENST00000393630		290	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS31849.1	870	MUTECT|MUSE	.	TTCAGACAAGG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371	.	.	ENSP00000377252	.	8/35	.	.	.	.	.	.	.	.	.	8/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,synonymous_variant,p.%3D,ENST00000546600,;MON2,synonymous_variant,p.%3D,ENST00000393630,;MON2,synonymous_variant,p.%3D,ENST00000280379,;MON2,synonymous_variant,p.%3D,ENST00000552115,;MON2,synonymous_variant,p.%3D,ENST00000393629,;MON2,synonymous_variant,p.%3D,ENST00000393632,;MON2,synonymous_variant,p.%3D,ENST00000552738,;MON2,non_coding_transcript_exon_variant,,ENST00000549378,;MON2,3_prime_UTR_variant,,ENST00000547095,;	1261	154	210	SUCCESS
GPR162	27239	.	GRCh37	12	6933599	6933599	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	77	0	ENST00000311268.3:c.535T>G	p.Phe179Val	p.F179V	ENST00000311268	NM_019858.1	179	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS8563.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCTTTGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR16518:SF6,hmmpanther:PTHR16518,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01991	.	.	ENSP00000311528	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000311268	Transcript	.	.	ENSG00000250510	16693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	GP162_HUMAN	GPR162	HGNC	J3KPJ9_HUMAN	.	UPI000005046E	SNV	GPR162,missense_variant,p.Phe179Val,ENST00000311268,;GPR162,intron_variant,,ENST00000428545,;GPR162,intron_variant,,ENST00000382315,;GPR162,upstream_gene_variant,,ENST00000545321,;LEPREL2,upstream_gene_variant,,ENST00000251761,;LEPREL2,upstream_gene_variant,,ENST00000396725,;CD4,downstream_gene_variant,,ENST00000011653,;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,upstream_gene_variant,,ENST00000542330,;LEPREL2,upstream_gene_variant,,ENST00000544813,;GPR162,non_coding_transcript_exon_variant,,ENST00000535220,;CD4,downstream_gene_variant,,ENST00000437800,;LEPREL2,upstream_gene_variant,,ENST00000536140,;LEPREL2,upstream_gene_variant,,ENST00000606935,;	1322	77	84	SUCCESS
GPR162	27239	.	GRCh37	12	6933713	6933713	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375616091	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	58	0	ENST00000311268.3:c.649C>T	p.Arg217Trp	p.R217W	ENST00000311268	NM_019858.1	217	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS8563.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCGGAGA	NONE	byCluster	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR16518:SF6,hmmpanther:PTHR16518,Pfam_domain:PF00001,Prints_domain:PR01993	.	T:0	ENSP00000311528	.	2/5	.	.	.	.	.	.	.	.	rs375616091,COSM1208672	2/5	PASS	ENST00000311268	Transcript	.	.	ENSG00000250510	16693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.89)	.	tolerated(0.17)	0,1	GP162_HUMAN	GPR162	HGNC	J3KPJ9_HUMAN	.	UPI000005046E	SNV	GPR162,missense_variant,p.Arg19Trp,ENST00000545321,;GPR162,missense_variant,p.Arg217Trp,ENST00000311268,;GPR162,intron_variant,,ENST00000428545,;GPR162,intron_variant,,ENST00000382315,;LEPREL2,upstream_gene_variant,,ENST00000251761,;LEPREL2,upstream_gene_variant,,ENST00000396725,;CD4,downstream_gene_variant,,ENST00000011653,;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,upstream_gene_variant,,ENST00000542330,;LEPREL2,upstream_gene_variant,,ENST00000544813,;GPR162,non_coding_transcript_exon_variant,,ENST00000535220,;CD4,downstream_gene_variant,,ENST00000437800,;LEPREL2,upstream_gene_variant,,ENST00000536140,;LEPREL2,upstream_gene_variant,,ENST00000606935,;	1436	59	56	SUCCESS
MYF6	4618	.	GRCh37	12	81101722	81101722	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	61	0	ENST00000228641.3:c.224G>A	p.Gly75Asp	p.G75D	ENST00000228641	NM_002469.2	75	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS9019.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGCCAGT	BUFFER|p.P74P|c.222C>T|4	.	.	hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Pfam_domain:PF01586,SMART_domains:SM00520	.	.	ENSP00000228641	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000228641	Transcript	.	.	ENSG00000111046	7566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYF6_HUMAN	MYF6	HGNC	.	.	UPI0000001050	SNV	MYF6,missense_variant,p.Gly75Asp,ENST00000228641,;	446	61	97	SUCCESS
PLXNC1	10154	.	GRCh37	12	94676082	94676082	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs116512321	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	15	94	0	ENST00000258526.4:c.3784A>G	p.Met1262Val	p.M1262V	ENST00000258526	NM_005761.2	1262	Atg/Gtg	0	G:0.005	G:0.0068	.	G:0	.	G	M/V	protein_coding	YES	CCDS9049.1	3784	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAATGGGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Pfam_domain:PF08337,Gene3D:3.10.20.90	G:0	G:0.0001	ENSP00000258526	G:0	23/31	.	.	.	.	.	.	.	.	rs116512321	23/31	common_in_exac	ENST00000258526	Transcript	.	G:0.0018	ENSG00000136040	9106	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	G:0	tolerated(0.38)	.	PLXC1_HUMAN	PLXNC1	HGNC	F8VUW4_HUMAN,F5H3A2_HUMAN	.	UPI0000038AF4	SNV	PLXNC1,start_lost,p.Met1?,ENST00000545312,;PLXNC1,missense_variant,p.Met309Val,ENST00000547057,;PLXNC1,missense_variant,p.Met1262Val,ENST00000258526,;RP11-1105G2.3,upstream_gene_variant,,ENST00000551941,;RP11-1105G2.3,intron_variant,,ENST00000547927,;PLXNC1,missense_variant,p.Met303Val,ENST00000549217,;PLXNC1,downstream_gene_variant,,ENST00000549187,;	4033	94	119	SUCCESS
PABPC3	5042	.	GRCh37	13	25671865	25671865	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1290968380	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	65	0	ENST00000281589.3:c.1529C>T	p.Ala510Val	p.A510V	ENST00000281589	NM_030979.2	510	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9311.1	1529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCGGGAG	NONE	.	.	Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239	.	.	ENSP00000281589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000281589	Transcript	.	.	ENSG00000151846	8556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.08)	.	PABP3_HUMAN	PABPC3	HGNC	Q5VX58_HUMAN,Q2VIP3_HUMAN	.	UPI00001311AB	SNV	PABPC3,missense_variant,p.Ala510Val,ENST00000281589,;	1566	65	64	SUCCESS
FOXO1	2308	.	GRCh37	13	41240224	41240224	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	10	0	ENST00000379561.5:c.126G>C	p.Pro42=	p.P42=	ENST00000379561	NM_002015.3	42	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9371.1	126	MUTECT|MUSE	.	GGCGCCGGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159	.	.	ENSP00000368880	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000379561	Transcript	.	.	ENSG00000150907	3819	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXO1_HUMAN	FOXO1	HGNC	.	.	UPI000013DC20	SNV	FOXO1,synonymous_variant,p.%3D,ENST00000379561,;	511	10	8	SUCCESS
OLFM4	10562	.	GRCh37	13	53603061	53603061	+	synonymous_variant	Silent	SNP	C	C	A	rs773928834	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	83	0	ENST00000219022.2:c.90C>A	p.Pro30=	p.P30=	ENST00000219022	NM_006418.4	30	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9440.1	90	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCCAGCCC	NONE	byFrequency	.	.	.	.	ENSP00000219022	.	1/5	.	.	.	.	.	.	.	.	rs773928834	1/5	PASS	ENST00000219022	Transcript	.	.	ENSG00000102837	17190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLFM4_HUMAN	OLFM4	HGNC	.	.	UPI00000359F0	SNV	OLFM4,synonymous_variant,p.%3D,ENST00000219022,;	168	83	62	SUCCESS
SCEL	8796	.	GRCh37	13	78211328	78211328	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	53	0	ENST00000349847.3:c.1837A>T	p.Arg613Trp	p.R613W	ENST00000349847	NM_144777.2	613	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS9459.1	1837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATAGGTGA	NONE	.	.	hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468	.	.	ENSP00000302579	.	30/33	.	.	.	.	.	.	.	.	.	30/33	PASS	ENST00000349847	Transcript	.	.	ENSG00000136155	10573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.01)	.	SCEL_HUMAN	SCEL	HGNC	.	.	UPI000013CFF1	SNV	SCEL,missense_variant,p.Arg593Trp,ENST00000377246,;SCEL,missense_variant,p.Arg613Trp,ENST00000349847,;SCEL,missense_variant,p.Arg571Trp,ENST00000535157,;	1921	53	54	SUCCESS
DIO3	1735	.	GRCh37	14	102028627	102028627	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	66	0	ENST00000510508.4:c.794A>C	p.Gln265Pro	p.Q265P	ENST00000510508		265	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS41992.2	794	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGAGTG	NONE	.	.	hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF4,Pfam_domain:PF00837,PIRSF_domain:PIRSF500144,PIRSF_domain:PIRSF001330	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,missense_variant,p.Gln265Pro,ENST00000510508,;DIO3,missense_variant,p.Gln239Pro,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	940	66	67	SUCCESS
OR4K15	81127	.	GRCh37	14	20443866	20443866	+	synonymous_variant	Silent	SNP	G	G	C	rs776042991	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	66	0	ENST00000305051.5:c.189G>C	p.Leu63=	p.L63=	ENST00000305051	NM_001005486.1	63	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS32026.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGTTGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF287,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304077	.	1/1	.	.	.	.	.	.	.	.	rs776042991	1/1	PASS	ENST00000305051	Transcript	.	.	ENSG00000169488	15353	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4KF_HUMAN	OR4K15	HGNC	.	.	UPI000015F249	SNV	OR4K15,synonymous_variant,p.%3D,ENST00000305051,;	264	66	49	SUCCESS
RNASE12	493901	.	GRCh37	14	21058715	21058715	+	synonymous_variant	Silent	SNP	C	C	T	rs768864047	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	20	157	0	ENST00000556526.1:c.168G>A	p.Arg56=	p.R56=	ENST00000556526	NM_001024822.2	56	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32037.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCCTGAT	NONE	byFrequency	.	hmmpanther:PTHR11437:SF20,hmmpanther:PTHR11437,Gene3D:3.10.130.10,Pfam_domain:PF00074,SMART_domains:SM00092,Superfamily_domains:SSF54076	.	.	ENSP00000450580	.	1/1	.	.	.	.	.	.	.	.	rs768864047	1/1	PASS	ENST00000556526	Transcript	.	.	ENSG00000258436	24211	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNS12_HUMAN	RNASE12	HGNC	.	.	UPI00004C6F5C	SNV	RNASE12,synonymous_variant,p.%3D,ENST00000556526,;RNASE11,intron_variant,,ENST00000413502,;RNASE11,intron_variant,,ENST00000555283,;RNASE11,upstream_gene_variant,,ENST00000557105,;RNASE11,upstream_gene_variant,,ENST00000398009,;RNASE11,upstream_gene_variant,,ENST00000555841,;RNASE11,upstream_gene_variant,,ENST00000432835,;RNASE11,upstream_gene_variant,,ENST00000443456,;RNASE11,upstream_gene_variant,,ENST00000553849,;RNASE11,upstream_gene_variant,,ENST00000554842,;RNASE11,upstream_gene_variant,,ENST00000610205,;RNASE11,upstream_gene_variant,,ENST00000398008,;RNASE11,upstream_gene_variant,,ENST00000557503,;RP11-14J7.6,non_coding_transcript_exon_variant,,ENST00000553604,;RP11-14J7.6,non_coding_transcript_exon_variant,,ENST00000554993,;RP11-14J7.6,intron_variant,,ENST00000554529,;RP11-14J7.6,intron_variant,,ENST00000556487,;RP11-14J7.6,downstream_gene_variant,,ENST00000554006,;RNASE11,upstream_gene_variant,,ENST00000335950,;	268	157	116	SUCCESS
C14orf93	60686	.	GRCh37	14	23467696	23467696	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	25	143	0	ENST00000299088.6:c.537G>A	p.Arg179=	p.R179=	ENST00000299088	NM_001130708.1	179	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9583.1	537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCCTCTG	NONE	.	.	hmmpanther:PTHR14375,Pfam_domain:PF15394	.	.	ENSP00000299088	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000299088	Transcript	.	.	ENSG00000100802	20162	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN093_HUMAN	C14orf93	HGNC	J3KPV9_HUMAN,G5E9D9_HUMAN,G3V4W6_HUMAN,G3V4L9_HUMAN,G3V3W0_HUMAN,G3V396_HUMAN,G3V2U2_HUMAN,G3V2P0_HUMAN	.	UPI000000CC08	SNV	C14orf93,synonymous_variant,p.%3D,ENST00000397380,;C14orf93,synonymous_variant,p.%3D,ENST00000341470,;C14orf93,synonymous_variant,p.%3D,ENST00000397382,;C14orf93,synonymous_variant,p.%3D,ENST00000406429,;C14orf93,synonymous_variant,p.%3D,ENST00000553675,;C14orf93,synonymous_variant,p.%3D,ENST00000397379,;C14orf93,synonymous_variant,p.%3D,ENST00000299088,;C14orf93,5_prime_UTR_variant,,ENST00000397377,;C14orf93,5_prime_UTR_variant,,ENST00000397376,;C14orf93,downstream_gene_variant,,ENST00000553958,;C14orf93,downstream_gene_variant,,ENST00000555098,;C14orf93,downstream_gene_variant,,ENST00000555998,;C14orf93,downstream_gene_variant,,ENST00000555575,;C14orf93,downstream_gene_variant,,ENST00000554179,;C14orf93,downstream_gene_variant,,ENST00000553931,;C14orf93,downstream_gene_variant,,ENST00000553606,;C14orf93,downstream_gene_variant,,ENST00000556419,;RP11-298I3.4,intron_variant,,ENST00000556503,;RP11-298I3.4,downstream_gene_variant,,ENST00000555294,;RP11-298I3.4,downstream_gene_variant,,ENST00000557615,;C14orf93,downstream_gene_variant,,ENST00000557513,;C14orf93,downstream_gene_variant,,ENST00000556812,;C14orf93,downstream_gene_variant,,ENST00000553316,;C14orf93,downstream_gene_variant,,ENST00000556896,;C14orf93,downstream_gene_variant,,ENST00000554536,;	967	143	147	SUCCESS
LRFN5	145581	.	GRCh37	14	42356164	42356164	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	23	141	0	ENST00000298119.4:c.336T>G	p.Thr112=	p.T112=	ENST00000298119	NM_152447.3	112	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9678.1	336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACTAAAAT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13306,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS51450	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,synonymous_variant,p.%3D,ENST00000298119,;LRFN5,synonymous_variant,p.%3D,ENST00000554120,;LRFN5,synonymous_variant,p.%3D,ENST00000554171,;	1525	141	137	SUCCESS
ESRRB	2103	.	GRCh37	14	76957890	76957890	+	synonymous_variant	Silent	SNP	C	C	T	rs139812473	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	127	0	ENST00000380887.2:c.888C>T	p.Asp296=	p.D296=	ENST00000380887		296	gaC/gaT	0	T:0.0002	.	.	.	.	T	D	protein_coding	YES	CCDS9850.2	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGACGACAA	NONE	byCluster	.	hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	T:0	ENSP00000370270	.	6/9	.	.	.	.	.	.	.	.	rs139812473	6/9	PASS	ENST00000380887	Transcript	.	.	ENSG00000119715	3473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERR2_HUMAN	ESRRB	HGNC	Q9HCB2_HUMAN	.	UPI000003157B	SNV	ESRRB,synonymous_variant,p.%3D,ENST00000509242,;ESRRB,synonymous_variant,p.%3D,ENST00000512784,;ESRRB,synonymous_variant,p.%3D,ENST00000380887,;ESRRB,synonymous_variant,p.%3D,ENST00000261532,;ESRRB,synonymous_variant,p.%3D,ENST00000556177,;RP11-187O7.3,downstream_gene_variant,,ENST00000554926,;ESRRB,synonymous_variant,p.%3D,ENST00000505752,;	960	127	103	SUCCESS
ATP10A	57194	.	GRCh37	15	25939994	25939994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	55	0	ENST00000356865.6:c.3060C>A	p.Ser1020Arg	p.S1020R	ENST00000356865	NM_024490.3	1020	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS32178.1	3060	MUTECT|MUSE	.	AGCTTGCTCCG	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784	.	.	ENSP00000349325	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.18)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Ser1020Arg,ENST00000356865,;ATP10A,upstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;	3172	55	71	SUCCESS
RYR3	6263	.	GRCh37	15	33954906	33954906	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	16	98	0	ENST00000389232.4:c.5175G>T	p.Val1725=	p.V1725=	ENST00000389232	NM_001036.3	1725	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45210.1	5175	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGCTGAA	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	35/104	.	.	.	.	.	.	.	.	.	35/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,synonymous_variant,p.%3D,ENST00000389232,;RYR3,synonymous_variant,p.%3D,ENST00000415757,;	5245	98	100	SUCCESS
MEIS2	4212	.	GRCh37	15	37242602	37242602	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	11	94	0	ENST00000561208.1:c.901-1G>A		p.X301_splice	ENST00000561208		301		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10044.1	.	MUTECT|MUSE|VARSCANS	.	GGATGCTAATG	NONE	.	.	.	.	.	ENSP00000453793	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000561208	Transcript	1	.	ENSG00000134138	7001	.	.	HIGH	8/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,splice_acceptor_variant,,ENST00000424352,;MEIS2,splice_acceptor_variant,,ENST00000219869,;MEIS2,splice_acceptor_variant,,ENST00000559561,;MEIS2,splice_acceptor_variant,,ENST00000397620,;MEIS2,splice_acceptor_variant,,ENST00000607277,;MEIS2,splice_acceptor_variant,,ENST00000444725,;MEIS2,splice_acceptor_variant,,ENST00000397624,;MEIS2,splice_acceptor_variant,,ENST00000382766,;MEIS2,splice_acceptor_variant,,ENST00000559085,;MEIS2,splice_acceptor_variant,,ENST00000557796,;MEIS2,splice_acceptor_variant,,ENST00000561208,;MEIS2,splice_acceptor_variant,,ENST00000338564,;MEIS2,splice_acceptor_variant,,ENST00000340545,;MEIS2,splice_acceptor_variant,,ENST00000560570,;MEIS2,intron_variant,,ENST00000314177,;	.	94	127	SUCCESS
MGA	23269	.	GRCh37	15	41988636	41988636	+	synonymous_variant	Silent	SNP	C	C	T	rs1406866878	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	26	97	0	ENST00000219905.7:c.1428C>T	p.Val476=	p.V476=	ENST00000219905	NM_001164273.1	476	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS55959.1	1428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCACCAG	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000563576,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000566718,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MIR626,downstream_gene_variant,,ENST00000385032,;MGA,non_coding_transcript_exon_variant,,ENST00000568630,;	1609	97	144	SUCCESS
ATP8B4	79895	.	GRCh37	15	50226281	50226281	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	29	122	0	ENST00000284509.6:c.1386C>A	p.Pro462=	p.P462=	ENST00000284509	NM_024837.3	462	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32238.1	1386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGGGATC	NONE	.	.	hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF81660	.	.	ENSP00000284509	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000284509	Transcript	.	.	ENSG00000104043	13536	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT8B4_HUMAN	ATP8B4	HGNC	H0YMB5_HUMAN	.	UPI0000055904	SNV	ATP8B4,synonymous_variant,p.%3D,ENST00000559829,;ATP8B4,synonymous_variant,p.%3D,ENST00000284509,;ATP8B4,synonymous_variant,p.%3D,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,upstream_gene_variant,,ENST00000558458,;	1528	123	161	SUCCESS
MYO5C	55930	.	GRCh37	15	52543594	52543594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	39	168	0	ENST00000261839.7:c.1655C>A	p.Ala552Asp	p.A552D	ENST00000261839	NM_018728.3	552	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS42036.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCAGCAAAG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000261839	.	13/41	.	.	.	.	.	.	.	.	.	13/41	PASS	ENST00000261839	Transcript	.	.	ENSG00000128833	7604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MYO5C_HUMAN	MYO5C	HGNC	Q14783_HUMAN,H0YM93_HUMAN	.	UPI000013D20E	SNV	MYO5C,missense_variant,p.Ala552Asp,ENST00000261839,;MYO5C,3_prime_UTR_variant,,ENST00000443683,;MYO5C,3_prime_UTR_variant,,ENST00000559459,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,downstream_gene_variant,,ENST00000558242,;	1817	168	189	SUCCESS
PTPLAD1	0	.	GRCh37	15	65849185	65849185	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1441683788	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	27	125	0	ENST00000261875.5:c.313C>T	p.Pro105Ser	p.P105S	ENST00000261875	NM_016395.2	105	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45282.1	313	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCCTGAC	NONE	.	.	hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF20,Gene3D:2.60.40.790,Superfamily_domains:SSF49764	.	.	ENSP00000261875	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000261875	Transcript	.	.	ENSG00000074696	24175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	HACD3_HUMAN	PTPLAD1	HGNC	H3BRL8_HUMAN,H3BMZ1_HUMAN	.	UPI00001D6EF0	SNV	PTPLAD1,missense_variant,p.Pro105Ser,ENST00000261875,;PTPLAD1,missense_variant,p.Pro80Ser,ENST00000568793,;PTPLAD1,missense_variant,p.Pro143Ser,ENST00000565299,;PTPLAD1,5_prime_UTR_variant,,ENST00000569894,;PTPLAD1,5_prime_UTR_variant,,ENST00000566074,;PTPLAD1,5_prime_UTR_variant,,ENST00000562901,;PTPLAD1,5_prime_UTR_variant,,ENST00000562832,;PTPLAD1,5_prime_UTR_variant,,ENST00000566511,;PTPLAD1,intron_variant,,ENST00000442729,;RNU6-19P,upstream_gene_variant,,ENST00000384718,;PTPLAD1,downstream_gene_variant,,ENST00000566239,;	479	125	155	SUCCESS
ARID3B	10620	.	GRCh37	15	74836644	74836644	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	22	193	0	ENST00000346246.5:c.367C>T	p.His123Tyr	p.H123Y	ENST00000346246	NM_006465.2	123	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10264.1	367	MUTECT|MUSE|VARSCANS	.	ATTTTCATGTG	NONE	.	.	hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF3	.	.	ENSP00000343126	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000346246	Transcript	.	.	ENSG00000179361	14350	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.736)	.	tolerated(0.24)	.	ARI3B_HUMAN	ARID3B	HGNC	H3BQ92_HUMAN	.	UPI0000070441	SNV	ARID3B,missense_variant,p.His123Tyr,ENST00000346246,;ARID3B,upstream_gene_variant,,ENST00000566147,;ARID3B,non_coding_transcript_exon_variant,,ENST00000569680,;	598	193	256	SUCCESS
ABHD17C	58489	.	GRCh37	15	81046707	81046707	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	72	0	ENST00000258884.4:c.986C>G	p.Ser329Cys	p.S329C	ENST00000258884	NM_021214.1	329	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS45323.1	986	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCCTGAA	NONE	.	.	.	.	.	ENSP00000258884	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000258884	Transcript	.	.	ENSG00000136379	26925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious_low_confidence(0)	.	AB17C_HUMAN	ABHD17C	HGNC	H0YN98_HUMAN	.	UPI00001612A6	SNV	ABHD17C,missense_variant,p.Ser295Cys,ENST00000558464,;ABHD17C,missense_variant,p.Ser94Cys,ENST00000560609,;ABHD17C,missense_variant,p.Ser329Cys,ENST00000258884,;ABHD17C,non_coding_transcript_exon_variant,,ENST00000559506,;ABHD17C,downstream_gene_variant,,ENST00000560126,;	1113	72	79	SUCCESS
TMC7	79905	.	GRCh37	16	19056299	19056299	+	synonymous_variant	Silent	SNP	C	C	T	rs769927626	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	79	0	ENST00000304381.5:c.1431C>T	p.Cys477=	p.C477=	ENST00000304381	NM_024847.3	477	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS10573.1	1431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCGGCTA	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF9	.	.	ENSP00000304710	.	10/16	.	.	.	.	.	.	.	.	rs769927626	10/16	PASS	ENST00000304381	Transcript	.	.	ENSG00000170537	23000	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC7_HUMAN	TMC7	HGNC	E7ERB6_HUMAN	.	UPI00001AEDAD	SNV	TMC7,synonymous_variant,p.%3D,ENST00000569532,;TMC7,synonymous_variant,p.%3D,ENST00000421369,;TMC7,synonymous_variant,p.%3D,ENST00000304381,;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	1561	79	100	SUCCESS
RBBP6	5930	.	GRCh37	16	24583041	24583041	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	388	79	406	0	ENST00000319715.4:c.4654A>G	p.Lys1552Glu	p.K1552E	ENST00000319715	NM_006910.4	1552	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10621.1	4654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTAAACGG	NONE	.	.	hmmpanther:PTHR15439:SF1,hmmpanther:PTHR15439	.	.	ENSP00000317872	.	18/18	.	.	.	.	.	.	.	.	COSM1301757	18/18	PASS	ENST00000319715	Transcript	.	.	ENSG00000122257	9889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	1	RBBP6_HUMAN	RBBP6	HGNC	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN	.	UPI00001A96B8	SNV	RBBP6,missense_variant,p.Lys712Glu,ENST00000381039,;RBBP6,missense_variant,p.Lys1552Glu,ENST00000319715,;RBBP6,missense_variant,p.Lys1518Glu,ENST00000348022,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	5086	406	468	SUCCESS
PRSS27	83886	.	GRCh37	16	2764244	2764244	+	synonymous_variant	Silent	SNP	C	C	T	rs1269578947	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	37	0	ENST00000302641.3:c.330G>A	p.Val110=	p.V110=	ENST00000302641	NM_031948.3	110	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10476.1	330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCACCTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF67,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000306390	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000302641	Transcript	.	.	ENSG00000172382	15475	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS27_HUMAN	PRSS27	HGNC	.	.	UPI000000D71C	SNV	PRSS27,synonymous_variant,p.%3D,ENST00000302641,;AC092117.1,downstream_gene_variant,,ENST00000410123,;PRSS27,3_prime_UTR_variant,,ENST00000562249,;PRSS27,3_prime_UTR_variant,,ENST00000565903,;PRSS27,non_coding_transcript_exon_variant,,ENST00000543965,;PRSS27,downstream_gene_variant,,ENST00000566492,;	385	37	38	SUCCESS
MVP	9961	.	GRCh37	16	29858633	29858633	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs555637285	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	51	0	ENST00000357402.5:c.2381A>C	p.Lys794Thr	p.K794T	ENST00000357402	NM_017458.3	794	aAg/aCg	0	.	C:0	.	C:0	.	C	K/T	protein_coding	YES	CCDS10656.1	2381	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAGTTCA	NONE	by1000G	.	hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165	C:0.001	.	ENSP00000349977	C:0	14/15	.	.	.	.	.	.	.	.	rs555637285	14/15	PASS	ENST00000357402	Transcript	.	C:0.0002	ENSG00000013364	7531	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	C:0	deleterious(0)	.	MVP_HUMAN	MVP	HGNC	H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN	.	UPI000012FA9C	SNV	MVP,missense_variant,p.Lys794Thr,ENST00000395353,;MVP,missense_variant,p.Lys794Thr,ENST00000357402,;	2519	51	62	SUCCESS
MEFV	4210	.	GRCh37	16	3296531	3296531	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	39	0	ENST00000219596.1:c.1604T>C	p.Leu535Ser	p.L535S	ENST00000219596	NM_000243.2	535	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS10498.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAAGATG	NONE	.	.	hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103	.	.	ENSP00000219596	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,missense_variant,p.Leu535Ser,ENST00000219596,;MEFV,missense_variant,p.Leu324Ser,ENST00000536379,;MEFV,missense_variant,p.Leu355Ser,ENST00000339854,;MEFV,missense_variant,p.Leu324Ser,ENST00000541159,;MEFV,missense_variant,p.Leu324Ser,ENST00000536980,;MEFV,missense_variant,p.Leu566Ser,ENST00000542898,;MEFV,missense_variant,p.Leu535Ser,ENST00000537682,;MEFV,synonymous_variant,p.%3D,ENST00000572244,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,non_coding_transcript_exon_variant,,ENST00000539154,;	1644	39	57	SUCCESS
RAB11FIP3	9727	.	GRCh37	16	541139	541139	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	84	0	ENST00000262305.4:c.1265+2139A>T		p.*422*	ENST00000262305	NM_014700.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGACCCTC	NONE	.	.	.	.	.	ENSP00000262305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262305	Transcript	.	.	ENSG00000090565	17224	.	.	MODIFIER	5/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFIP3_HUMAN	RAB11FIP3	HGNC	F6X994_HUMAN	.	UPI0000129C9C	SNV	RAB11FIP3,missense_variant,p.Asp79Val,ENST00000412256,;RAB11FIP3,missense_variant,p.Asp300Val,ENST00000434585,;RAB11FIP3,missense_variant,p.Asp424Val,ENST00000457159,;RAB11FIP3,intron_variant,,ENST00000450428,;RAB11FIP3,intron_variant,,ENST00000452814,;RAB11FIP3,intron_variant,,ENST00000262305,;RAB11FIP3,intron_variant,,ENST00000449879,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000495663,;RAB11FIP3,downstream_gene_variant,,ENST00000483002,;AL049542.1,upstream_gene_variant,,ENST00000546124,;	.	84	85	SUCCESS
C16orf11	0	.	GRCh37	16	613614	613614	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	45	0	ENST00000409413.3:c.320C>A	p.Pro107His	p.P107H	ENST00000409413	NM_145270.2	107	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS45365.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCCCACAG	NONE	.	.	hmmpanther:PTHR14678,hmmpanther:PTHR14678:SF2	.	.	ENSP00000386499	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000409413	Transcript	.	.	ENSG00000161992	14139	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.914)	.	tolerated(0.12)	.	CP011_HUMAN	C16orf11	HGNC	.	.	UPI000006F4B0	SNV	C16orf11,missense_variant,p.Pro107His,ENST00000409413,;NHLRC4,upstream_gene_variant,,ENST00000424439,;NHLRC4,upstream_gene_variant,,ENST00000540585,;PIGQ,upstream_gene_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000293874,;	599	45	42	SUCCESS
NRN1L	123904	.	GRCh37	16	67920015	67920015	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	25	0	ENST00000339176.3:c.351C>A	p.Ala117=	p.A117=	ENST00000339176	NM_198443.1	117	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10850.1	351	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCCCGGT	NONE	.	.	Pfam_domain:PF15056,hmmpanther:PTHR15902:SF2,hmmpanther:PTHR15902	.	.	ENSP00000342411	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000339176	Transcript	.	.	ENSG00000188038	29811	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRN1L_HUMAN	NRN1L	HGNC	.	.	UPI00000359FB	SNV	NRN1L,missense_variant,p.Pro44His,ENST00000576147,;NRN1L,synonymous_variant,p.%3D,ENST00000339176,;NRN1L,intron_variant,,ENST00000576758,;EDC4,downstream_gene_variant,,ENST00000577105,;EDC4,downstream_gene_variant,,ENST00000575033,;EDC4,downstream_gene_variant,,ENST00000573985,;EDC4,downstream_gene_variant,,ENST00000358933,;CTC-479C5.10,non_coding_transcript_exon_variant,,ENST00000572067,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000572221,;EDC4,downstream_gene_variant,,ENST00000573992,;EDC4,downstream_gene_variant,,ENST00000572724,;EDC4,downstream_gene_variant,,ENST00000575514,;EDC4,downstream_gene_variant,,ENST00000575507,;	450	25	37	SUCCESS
WDR90	197335	.	GRCh37	16	705201	705201	+	intron_variant	Intron	SNP	G	G	A	rs895723099	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	66	0	ENST00000293879.4:c.1556+54G>A		p.*519*	ENST00000293879				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42092.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGGCCGA	NONE	.	.	.	.	.	ENSP00000293879	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293879	Transcript	.	.	ENSG00000161996	26960	.	.	MODIFIER	14/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,intron_variant,,ENST00000293879,;WDR90,intron_variant,,ENST00000549091,;WDR90,upstream_gene_variant,,ENST00000550739,;LA16c-349E10.1,non_coding_transcript_exon_variant,,ENST00000573609,;WDR90,intron_variant,,ENST00000552648,;WDR90,upstream_gene_variant,,ENST00000548844,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,intron_variant,,ENST00000552943,;WDR90,intron_variant,,ENST00000549648,;WDR90,intron_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000552683,;WDR90,downstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000548859,;WDR90,upstream_gene_variant,,ENST00000552728,;WDR90,upstream_gene_variant,,ENST00000547407,;	.	66	83	SUCCESS
DNAAF1	123872	.	GRCh37	16	84188219	84188219	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	40	94	0	ENST00000378553.5:c.390G>A	p.Gly130=	p.G130=	ENST00000378553	NM_178452.4	130	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10943.2	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGCTGCG	NONE	.	.	Superfamily_domains:0046394,SMART_domains:SM00365,Gene3D:3.80.10.10,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208,PROSITE_profiles:PS51450	.	.	ENSP00000367815	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000378553	Transcript	.	.	ENSG00000154099	30539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAAF1_HUMAN	DNAAF1	HGNC	H3BP51_HUMAN	.	UPI000059D3C9	SNV	DNAAF1,synonymous_variant,p.%3D,ENST00000378553,;DNAAF1,synonymous_variant,p.%3D,ENST00000334315,;DNAAF1,upstream_gene_variant,,ENST00000567666,;DNAAF1,upstream_gene_variant,,ENST00000563818,;DNAAF1,synonymous_variant,p.%3D,ENST00000563093,;DNAAF1,synonymous_variant,p.%3D,ENST00000567918,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;	514	94	111	SUCCESS
TLDC1	0	.	GRCh37	16	84522960	84522960	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	26	115	0	ENST00000343629.6:c.453T>G	p.Thr151=	p.T151=	ENST00000343629	NM_020947.3	151	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS32498.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAGTCCA	NONE	.	.	hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF66	.	.	ENSP00000343635	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000343629	Transcript	.	.	ENSG00000140950	29325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLDC1_HUMAN	TLDC1	HGNC	H3BUB0_HUMAN,H3BTC5_HUMAN,H3BQ13_HUMAN,B4DM09_HUMAN	.	UPI00001BBB2E	SNV	TLDC1,synonymous_variant,p.%3D,ENST00000343629,;TLDC1,synonymous_variant,p.%3D,ENST00000535580,;TLDC1,downstream_gene_variant,,ENST00000565079,;TLDC1,non_coding_transcript_exon_variant,,ENST00000561807,;TLDC1,synonymous_variant,p.%3D,ENST00000566995,;TLDC1,3_prime_UTR_variant,,ENST00000570036,;TLDC1,upstream_gene_variant,,ENST00000567321,;	636	115	139	SUCCESS
ANKRD11	29123	.	GRCh37	16	89347979	89347979	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	11	70	0	ENST00000301030.4:c.4971G>A	p.Ser1657=	p.S1657=	ENST00000301030	NM_001256183.1	1657	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32513.1	4971	MUTECT|MUSE|VARSCANS	.	GGAGTCGACTC	NONE	.	.	hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,synonymous_variant,p.%3D,ENST00000378330,;ANKRD11,synonymous_variant,p.%3D,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000568100,;	5432	70	107	SUCCESS
NT5M	56953	.	GRCh37	17	17207117	17207117	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1403034985	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	3	43	0	ENST00000389022.4:c.253C>T	p.Arg85Trp	p.R85W	ENST00000389022	NM_020201.3	85	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32581.1	253	MUTECT|MUSE	.	GCCTGCGGCCA	NONE	.	.	hmmpanther:PTHR16504,hmmpanther:PTHR16504:SF2,Gene3D:1.10.40.40,Pfam_domain:PF06941,Superfamily_domains:SSF56784	.	.	ENSP00000373674	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000389022	Transcript	.	.	ENSG00000205309	15769	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.712)	.	deleterious(0)	.	NT5M_HUMAN	NT5M	HGNC	Q2I378_HUMAN	.	UPI0000073CAE	SNV	NT5M,missense_variant,p.Arg85Trp,ENST00000389022,;NT5M,missense_variant,p.Arg85Trp,ENST00000478373,;NT5M,missense_variant,p.Arg43Trp,ENST00000483704,;NT5M,missense_variant,p.Arg85Trp,ENST00000470418,;	469	43	67	SUCCESS
GIT1	28964	.	GRCh37	17	27901810	27901810	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	23	0	ENST00000225394.3:c.2196G>T	p.Leu732=	p.L732=	ENST00000225394	NM_014030.3	732	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42290.1	2223	MUTECT|MUSE	.	GTCAGCAGCTG	NONE	.	.	hmmpanther:PTHR23180:SF193,hmmpanther:PTHR23180,Pfam_domain:PF12205	.	.	ENSP00000378338	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000394869	Transcript	.	.	ENSG00000108262	4272	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GIT1_HUMAN	GIT1	HGNC	Q59FC3_HUMAN,K7EIX6_HUMAN,B4DS81_HUMAN,B4DMF7_HUMAN	.	UPI0000E59EEC	SNV	GIT1,synonymous_variant,p.%3D,ENST00000225394,;GIT1,synonymous_variant,p.%3D,ENST00000394869,;GIT1,synonymous_variant,p.%3D,ENST00000581348,;GIT1,3_prime_UTR_variant,,ENST00000579937,;TP53I13,downstream_gene_variant,,ENST00000583940,;GIT1,downstream_gene_variant,,ENST00000585148,;GIT1,downstream_gene_variant,,ENST00000578266,;TP53I13,downstream_gene_variant,,ENST00000580183,;TP53I13,downstream_gene_variant,,ENST00000378818,;TP53I13,downstream_gene_variant,,ENST00000301057,;TP53I13,downstream_gene_variant,,ENST00000581411,;TP53I13,downstream_gene_variant,,ENST00000578749,;TP53I13,downstream_gene_variant,,ENST00000582829,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.4,downstream_gene_variant,,ENST00000579050,;GIT1,3_prime_UTR_variant,,ENST00000578670,;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,;GIT1,downstream_gene_variant,,ENST00000581925,;GIT1,downstream_gene_variant,,ENST00000586574,;TP53I13,downstream_gene_variant,,ENST00000577934,;GIT1,downstream_gene_variant,,ENST00000491377,;TP53I13,downstream_gene_variant,,ENST00000579674,;	2394	23	36	SUCCESS
NKIRAS2	28511	.	GRCh37	17	40174526	40174543	+	inframe_deletion	In_Frame_Del	DEL	GGCCGAACTGCCCCGACA	GGCCGAACTGCCCCGACA	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	GGCCGAACTGCCCCGACA	GGCCGAACTGCCCCGACA	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	59	0	ENST00000307641.5:c.204_221del	p.Ala69_His74del	p.A69_H74del	ENST00000307641	NM_001001349.2	68	ggGGCCGAACTGCCCCGACAc/ggc	0	.	.	.	.	.	-	GAELPRH/G	protein_coding	YES	CCDS11415.1	204-221	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATGGGGCCGAACTGCCCCGACACTGCT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF236,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	.	.	ENSP00000303580	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000307641	Transcript	.	.	ENSG00000168256	17898	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KBRS2_HUMAN	NKIRAS2	HGNC	K7ERG2_HUMAN,K7ER26_HUMAN	.	UPI00000465E5	deletion	NKIRAS2,inframe_deletion,p.Ala69_His74del,ENST00000393880,;NKIRAS2,inframe_deletion,p.Ala69_His74del,ENST00000307641,;NKIRAS2,inframe_deletion,p.Ala69_His74del,ENST00000393885,;NKIRAS2,inframe_deletion,p.Ala67_His72del,ENST00000393884,;NKIRAS2,inframe_deletion,p.Ala69_His74del,ENST00000316082,;NKIRAS2,inframe_deletion,p.Ala69_His74del,ENST00000393881,;NKIRAS2,inframe_deletion,p.Ala35_His40del,ENST00000587337,;NKIRAS2,intron_variant,,ENST00000462043,;NKIRAS2,intron_variant,,ENST00000479407,;NKIRAS2,intron_variant,,ENST00000449471,;DNAJC7,upstream_gene_variant,,ENST00000590348,;DNAJC7,upstream_gene_variant,,ENST00000591787,;NKIRAS2,downstream_gene_variant,,ENST00000585955,;DNAJC7,upstream_gene_variant,,ENST00000457167,;ZNF385C,downstream_gene_variant,,ENST00000436535,;DNAJC7,upstream_gene_variant,,ENST00000589773,;ZNF385C,downstream_gene_variant,,ENST00000461831,;NKIRAS2,3_prime_UTR_variant,,ENST00000491638,;NKIRAS2,non_coding_transcript_exon_variant,,ENST00000393879,;NKIRAS2,intron_variant,,ENST00000485789,;NKIRAS2,downstream_gene_variant,,ENST00000587028,;ZNF385C,downstream_gene_variant,,ENST00000496039,;	825-842	59	69	SUCCESS
VPS25	84313	.	GRCh37	17	40925774	40925774	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	61	0	ENST00000253794.2:c.77G>T	p.Arg26Leu	p.R26L	ENST00000253794	NM_032353.3	26	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS11438.1	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCGGCAGA	NONE	.	.	Superfamily_domains:SSF46785,Gene3D:1.10.10.570,Pfam_domain:PF05871,hmmpanther:PTHR13149:SF0,hmmpanther:PTHR13149	.	.	ENSP00000253794	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000253794	Transcript	.	.	ENSG00000131475	28122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0.03)	.	VPS25_HUMAN	VPS25	HGNC	K7ENE3_HUMAN	.	UPI00000728F2	SNV	VPS25,missense_variant,p.Arg16Leu,ENST00000589520,;VPS25,missense_variant,p.Arg26Leu,ENST00000253794,;VPS25,5_prime_UTR_variant,,ENST00000590339,;VPS25,missense_variant,p.Arg26Leu,ENST00000589577,;VPS25,non_coding_transcript_exon_variant,,ENST00000591584,;VPS25,non_coding_transcript_exon_variant,,ENST00000589219,;	117	61	74	SUCCESS
COL1A1	1277	.	GRCh37	17	48278919	48278919	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	22	1	ENST00000225964.5:c.-45A>C		p.*15*	ENST00000225964	NM_000088.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11561.1	.	MUTECT|MUSE	.	GGGGGTTAGCG	NONE	.	.	.	.	.	ENSP00000225964	.	1/51	.	.	.	.	.	.	.	.	.	1/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,5_prime_UTR_variant,,ENST00000225964,;COL1A1,upstream_gene_variant,,ENST00000507689,;COL1A1,non_coding_transcript_exon_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000495677,;	75	23	29	SUCCESS
KIF1C	10749	.	GRCh37	17	4927425	4927425	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	95	0	ENST00000320785.5:c.3291G>C	p.Lys1097Asn	p.K1097N	ENST00000320785	NM_006612.5	1097	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS11065.1	3291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGGAGAG	NONE	.	.	.	.	.	ENSP00000320821	.	23/23	.	.	.	.	.	.	.	.	COSM3519492	23/23	PASS	ENST00000320785	Transcript	.	.	ENSG00000129250	6317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.403)	.	deleterious_low_confidence(0)	1	KIF1C_HUMAN	KIF1C	HGNC	I3L1B1_HUMAN	.	UPI0000001C26	SNV	KIF1C,missense_variant,p.Lys1097Asn,ENST00000320785,;AC109333.10,upstream_gene_variant,,ENST00000438266,;KIF1C,downstream_gene_variant,,ENST00000573815,;	3648	96	89	SUCCESS
NUP88	4927	.	GRCh37	17	5308564	5308564	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	62	0	ENST00000573584.1:c.858-1G>C		p.X286_splice	ENST00000573584	NM_002532.4	286		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11070.1	.	MUTECT|MUSE	.	CAGGGCTAAAG	NONE	.	.	.	.	.	ENSP00000458954	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000573584	Transcript	.	.	ENSG00000108559	8067	.	.	HIGH	5/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUP88_HUMAN	NUP88	HGNC	I3L245_HUMAN	.	UPI0000130894	SNV	NUP88,splice_acceptor_variant,,ENST00000225696,;NUP88,splice_acceptor_variant,,ENST00000573584,;NUP88,downstream_gene_variant,,ENST00000572809,;NUP88,splice_acceptor_variant,,ENST00000574867,;	.	62	76	SUCCESS
APOH	350	.	GRCh37	17	64219853	64219853	+	synonymous_variant	Silent	SNP	C	C	T	rs762382292	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	104	0	ENST00000205948.6:c.378G>A	p.Glu126=	p.E126=	ENST00000205948	NM_000042.2	126	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS11663.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCTCAGT	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF46,PROSITE_profiles:PS50923	.	.	ENSP00000205948	.	4/8	.	.	.	.	.	.	.	.	rs762382292	4/8	PASS	ENST00000205948	Transcript	.	.	ENSG00000091583	616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOH_HUMAN	APOH	HGNC	J3QRN2_HUMAN,J3QLI0_HUMAN,D9IWP9_HUMAN	.	UPI0000125CAA	SNV	APOH,synonymous_variant,p.%3D,ENST00000581797,;APOH,synonymous_variant,p.%3D,ENST00000205948,;APOH,synonymous_variant,p.%3D,ENST00000577982,;APOH,upstream_gene_variant,,ENST00000585162,;	416	104	107	SUCCESS
GRIN2C	2905	.	GRCh37	17	72851235	72851235	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	28	0	ENST00000293190.5:c.-4G>A		p.*2*	ENST00000293190	NM_000835.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32724.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCACCGG	NONE	.	.	.	.	.	ENSP00000293190	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000293190	Transcript	.	.	ENSG00000161509	4587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE3_HUMAN	GRIN2C	HGNC	.	.	UPI00001AEBA4	SNV	GRIN2C,5_prime_UTR_variant,,ENST00000347612,;GRIN2C,5_prime_UTR_variant,,ENST00000293190,;GRIN2C,intron_variant,,ENST00000578159,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584496,;	144	28	34	SUCCESS
CHRNB1	1140	.	GRCh37	17	7359261	7359261	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	9	76	0	ENST00000306071.2:c.1365+1G>C		p.X455_splice	ENST00000306071	NM_000747.2	455		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11106.1	.	MUTECT|MUSE	.	ATGCGGTATGT	NONE	.	.	.	.	.	ENSP00000304290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306071	Transcript	.	.	ENSG00000170175	1961	.	.	HIGH	10/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHB_HUMAN	CHRNB1	HGNC	I3L535_HUMAN,B7Z5H1_HUMAN,B7Z2M6_HUMAN	.	UPI0000125257	SNV	CHRNB1,splice_donor_variant,,ENST00000576360,;CHRNB1,splice_donor_variant,,ENST00000536404,;CHRNB1,splice_donor_variant,,ENST00000306071,;CHRNB1,splice_donor_variant,,ENST00000575379,;CHRNB1,downstream_gene_variant,,ENST00000570557,;ZBTB4,downstream_gene_variant,,ENST00000311403,;ZBTB4,downstream_gene_variant,,ENST00000380599,;CHRNB1,downstream_gene_variant,,ENST00000573209,;	.	76	114	SUCCESS
DNAH17	8632	.	GRCh37	17	76567433	76567433	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	19	147	0	ENST00000389840.5:c.760G>A	p.Val254Ile	p.V254I	ENST00000389840		254	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	.	760	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACAATCT	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000374490	.	5/81	.	.	.	.	.	.	.	.	.	5/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Val254Ile,ENST00000585328,;DNAH17,missense_variant,p.Val254Ile,ENST00000389840,;DNAH17,upstream_gene_variant,,ENST00000589793,;	885	147	161	SUCCESS
ALOX15B	247	.	GRCh37	17	7942824	7942824	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368311556	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	50	0	ENST00000380183.4:c.268C>T	p.Arg90Cys	p.R90C	ENST00000380183	NM_001141.2	90	Cgc/Tgc	0	T:0	A:0	.	A:0	.	T	R/C	protein_coding	YES	CCDS11128.1	268	MUTECT|MUSE	.	TCTGCCGCTGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50095,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723	A:0	T:0.0001	ENSP00000369530	A:0	2/14	.	.	.	.	.	.	.	.	rs368311556	2/14	PASS	ENST00000380183	Transcript	.	A:0.0008	ENSG00000179593	434	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	A:0.0041	deleterious(0.01)	.	LX15B_HUMAN	ALOX15B	HGNC	.	.	UPI0000140991	SNV	ALOX15B,missense_variant,p.Arg90Cys,ENST00000380183,;ALOX15B,missense_variant,p.Arg90Cys,ENST00000573359,;ALOX15B,missense_variant,p.Arg90Cys,ENST00000572022,;ALOX15B,missense_variant,p.Arg90Cys,ENST00000380173,;snoU13,upstream_gene_variant,,ENST00000459145,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	407	50	31	SUCCESS
NPLOC4	55666	.	GRCh37	17	79556001	79556011	+	frameshift_variant	Frame_Shift_Del	DEL	CTGCTAGACTC	CTGCTAGACTC	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	CTGCTAGACTC	CTGCTAGACTC	.	.	.	.	.	.	.	.	.	.	.	.	.	119	13	129	0	ENST00000331134.6:c.1240_1250del	p.Glu414Ter	p.E414*	ENST00000331134	NM_017921.2	414	GAGTCTAGCAGt/t	0	.	.	.	.	.	-	ESSS/X	protein_coding	YES	CCDS45812.1	1240-1250	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTCACTGCTAGACTCCTTGG	NONE	.	.	hmmpanther:PTHR12710,Pfam_domain:PF05021,PIRSF_domain:PIRSF010052	.	.	ENSP00000331487	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000331134	Transcript	.	.	ENSG00000182446	18261	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPL4_HUMAN	NPLOC4	HGNC	.	.	UPI0000070BDD	deletion	NPLOC4,frameshift_variant,p.Glu414Ter,ENST00000374747,;NPLOC4,frameshift_variant,p.Glu253Ter,ENST00000539314,;NPLOC4,frameshift_variant,p.Glu414Ter,ENST00000331134,;NPLOC4,non_coding_transcript_exon_variant,,ENST00000572351,;NPLOC4,3_prime_UTR_variant,,ENST00000574897,;	1456-1466	129	132	SUCCESS
GREB1L	80000	.	GRCh37	18	19024334	19024334	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	114	0	ENST00000424526.1:c.1357A>G	p.Met453Val	p.M453V	ENST00000424526	NM_001142966.1	453	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS45836.1	1357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATGATT	NONE	.	.	hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720	.	.	ENSP00000464162	.	11/33	.	.	.	.	.	.	.	.	.	11/33	PASS	ENST00000580732	Transcript	.	.	ENSG00000141449	31042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.66)	.	GRB1L_HUMAN	GREB1L	HGNC	.	.	UPI0001642876	SNV	GREB1L,missense_variant,p.Met453Val,ENST00000269218,;GREB1L,missense_variant,p.Met453Val,ENST00000424526,;GREB1L,missense_variant,p.Met453Val,ENST00000400483,;GREB1L,missense_variant,p.Met453Val,ENST00000580732,;GREB1L,missense_variant,p.Met453Val,ENST00000431264,;GREB1L,downstream_gene_variant,,ENST00000579454,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;	1738	114	88	SUCCESS
SERPINB13	5275	.	GRCh37	18	61264391	61264391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1299356314	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	14	115	0	ENST00000344731.5:c.970G>A	p.Gly324Arg	p.G324R	ENST00000344731	NM_012397.3	324	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS11985.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGGGTTG	NONE	.	.	hmmpanther:PTHR11461:SF152,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000341584	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.12)	.	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,missense_variant,p.Gly324Arg,ENST00000344731,;SERPINB13,missense_variant,p.Gly272Arg,ENST00000269489,;SERPINB13,intron_variant,,ENST00000415733,;SERPINB13,downstream_gene_variant,,ENST00000431153,;SERPINB13,3_prime_UTR_variant,,ENST00000438844,;	1072	115	93	SUCCESS
L3MBTL4	91133	.	GRCh37	18	6263997	6263997	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	9	98	0	ENST00000284898.6:c.168G>C	p.Trp56Cys	p.W56C	ENST00000284898	NM_173464.3	56	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS11839.2	168	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACCACTC	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF78,SMART_domains:SM00561	.	.	ENSP00000284898	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000284898	Transcript	.	.	ENSG00000154655	26677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.149)	.	deleterious(0.02)	.	LMBL4_HUMAN	L3MBTL4	HGNC	J3QLK8_HUMAN,J3KS41_HUMAN,J3KRN7_HUMAN	.	UPI000013DDC0	SNV	L3MBTL4,missense_variant,p.Trp56Cys,ENST00000581231,;L3MBTL4,missense_variant,p.Trp56Cys,ENST00000317931,;L3MBTL4,missense_variant,p.Trp56Cys,ENST00000583809,;L3MBTL4,missense_variant,p.Trp56Cys,ENST00000583054,;L3MBTL4,missense_variant,p.Trp56Cys,ENST00000284898,;L3MBTL4,missense_variant,p.Trp56Cys,ENST00000400105,;L3MBTL4,missense_variant,p.Trp56Cys,ENST00000400104,;RP11-760N9.1,downstream_gene_variant,,ENST00000578427,;	369	98	97	SUCCESS
RAVER1	125950	.	GRCh37	19	10431330	10431330	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	10	94	0	ENST00000293677.6:c.1821+1G>A		p.X607_splice	ENST00000293677	NM_133452.2	607		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45960.1	.	MUTECT|MUSE|VARSCANS	.	ACTCACCGAGG	NONE	.	.	.	.	.	ENSP00000293677	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293677	Transcript	.	.	ENSG00000161847	30296	.	.	HIGH	9/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RAVER1	HGNC	K7EQG2_HUMAN,E9PAU2_HUMAN	.	UPI0000E042A4	SNV	RAVER1,splice_donor_variant,,ENST00000293677,;RAVER1,splice_donor_variant,,ENST00000585935,;FDX1L,upstream_gene_variant,,ENST00000541276,;FDX1L,upstream_gene_variant,,ENST00000393708,;FDX1L,upstream_gene_variant,,ENST00000494368,;FDX1L,upstream_gene_variant,,ENST00000492239,;CTD-2369P2.12,splice_donor_variant,,ENST00000586529,;RAVER1,splice_donor_variant,,ENST00000592208,;RAVER1,splice_donor_variant,,ENST00000593136,;RAVER1,downstream_gene_variant,,ENST00000591969,;FDX1L,upstream_gene_variant,,ENST00000453681,;FDX1L,upstream_gene_variant,,ENST00000460631,;FDX1L,upstream_gene_variant,,ENST00000343376,;CTD-2369P2.10,upstream_gene_variant,,ENST00000452032,;FDX1L,upstream_gene_variant,,ENST00000486454,;CTD-2369P2.10,upstream_gene_variant,,ENST00000493771,;	.	94	102	SUCCESS
CACNA1A	773	.	GRCh37	19	13476260	13476260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	46	168	0	ENST00000360228.5:c.655A>G	p.Ile219Val	p.I219V	ENST00000360228	NM_001127222.1	219	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45998.1	655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATCGACT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00167	.	.	ENSP00000353362	.	5/47	.	.	.	.	.	.	.	.	.	5/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Ile219Val,ENST00000573710,;CACNA1A,missense_variant,p.Ile219Val,ENST00000360228,;CACNA1A,upstream_gene_variant,,ENST00000593160,;	655	168	234	SUCCESS
SIN3B	23309	.	GRCh37	19	16952599	16952599	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	20	129	0	ENST00000379803.1:c.402G>C	p.Gly134=	p.G134=	ENST00000379803	NM_015260.2	134	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS32946.1	402	RADIA|MUTECT|MUSE|VARSCANS	.	CACGGGGACGG	NONE	.	.	hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1	.	.	ENSP00000369131	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	SNV	SIN3B,synonymous_variant,p.%3D,ENST00000248054,;SIN3B,synonymous_variant,p.%3D,ENST00000596802,;SIN3B,synonymous_variant,p.%3D,ENST00000379803,;SIN3B,upstream_gene_variant,,ENST00000596638,;CTD-2538G9.5,upstream_gene_variant,,ENST00000600987,;	416	129	153	SUCCESS
MPV17L2	84769	.	GRCh37	19	18306856	18306856	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	48	0	ENST00000599612.2:c.612A>C	p.Arg204=	p.R204=	ENST00000599612	NM_032683.2	204	cgA/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS42522.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGAGCAGA	NONE	.	.	.	.	.	ENSP00000469836	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000599612	Transcript	.	.	ENSG00000254858	28177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M17L2_HUMAN	MPV17L2	HGNC	.	.	UPI000013CC29	SNV	MPV17L2,synonymous_variant,p.%3D,ENST00000599612,;RAB3A,downstream_gene_variant,,ENST00000481914,;RAB3A,downstream_gene_variant,,ENST00000464076,;RAB3A,downstream_gene_variant,,ENST00000222256,;MPV17L2,non_coding_transcript_exon_variant,,ENST00000532896,;MPV17L2,non_coding_transcript_exon_variant,,ENST00000533807,;MPV17L2,downstream_gene_variant,,ENST00000534421,;	712	48	63	SUCCESS
CACTIN	58509	.	GRCh37	19	3626733	3626733	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs746280342	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	55	0	ENST00000221899.3:c.-177C>T		p.*59*	ENST00000221899		10		0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS45920.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGCGAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000415078	.	1/10	.	.	.	.	.	.	.	.	rs746280342	1/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,missense_variant,p.Arg10Trp,ENST00000248420,;CACTIN,missense_variant,p.Arg10Trp,ENST00000429344,;CACTIN,5_prime_UTR_variant,,ENST00000221899,;PIP5K1C,downstream_gene_variant,,ENST00000335312,;CACTIN,missense_variant,p.Arg10Trp,ENST00000585942,;	81	55	46	SUCCESS
FCGBP	8857	.	GRCh37	19	40368475	40368475	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	93	0	ENST00000221347.6:c.12873C>T	p.Phe4291=	p.F4291=	ENST00000221347	NM_003890.2	4291	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS12546.1	12873	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTGAAGGG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	.	.	ENSP00000221347	.	28/36	.	.	.	.	.	.	.	.	COSM3533875	28/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;	12881	93	122	SUCCESS
CYP2B6	1555	.	GRCh37	19	41512811	41512811	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs150862336	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	51	0	ENST00000324071.4:c.486G>T		p.X162_splice	ENST00000324071	NM_000767.4	162	ggG/ggT	0	A:0.0005	.	.	.	.	T	G	protein_coding	YES	CCDS12570.1	486	RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGGGCCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	A:0	ENSP00000324648	.	4/9	.	.	.	.	.	.	.	.	rs150862336	4/9	PASS	ENST00000324071	Transcript	1	.	ENSG00000197408	2615	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CP2B6_HUMAN	CYP2B6	HGNC	Q9UNX8_HUMAN,F2X1B0_HUMAN	.	UPI000012823F	SNV	CYP2B6,synonymous_variant,p.%3D,ENST00000324071,;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,intron_variant,,ENST00000330446,;CYP2B6,splice_region_variant,,ENST00000598834,;CYP2B6,splice_region_variant,,ENST00000594187,;CYP2B6,upstream_gene_variant,,ENST00000597612,;	493	51	68	SUCCESS
FEM1A	55527	.	GRCh37	19	4793065	4793065	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1449330413	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	46	0	ENST00000269856.3:c.1199A>G	p.Tyr400Cys	p.Y400C	ENST00000269856	NM_018708.2	400	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12135.1	1199	RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTACGCCG	NONE	.	.	hmmpanther:PTHR24173:SF12,hmmpanther:PTHR24173,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000269856	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000269856	Transcript	.	.	ENSG00000141965	16934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FEM1A_HUMAN	FEM1A	HGNC	.	.	UPI0000073096	SNV	FEM1A,missense_variant,p.Tyr400Cys,ENST00000269856,;AC005523.3,upstream_gene_variant,,ENST00000598782,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;AC005523.2,downstream_gene_variant,,ENST00000596170,;	1338	46	49	SUCCESS
NUCB1	4924	.	GRCh37	19	49404072	49404072	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	46	0	ENST00000405315.4:c.19C>A	p.Arg7=	p.R7=	ENST00000405315	NM_006184.5	7	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12740.1	19	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCCCGAGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19237:SF21,hmmpanther:PTHR19237	.	.	ENSP00000385923	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000405315	Transcript	.	.	ENSG00000104805	8043	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NUCB1_HUMAN	NUCB1	HGNC	Q96BA4_HUMAN,C9JBD3_HUMAN,C9J3C1_HUMAN,B4DZX0_HUMAN,B3KUR6_HUMAN	.	UPI0000161F57	SNV	NUCB1,synonymous_variant,p.%3D,ENST00000263273,;NUCB1,synonymous_variant,p.%3D,ENST00000451312,;NUCB1,synonymous_variant,p.%3D,ENST00000405315,;NUCB1,synonymous_variant,p.%3D,ENST00000407032,;NUCB1,synonymous_variant,p.%3D,ENST00000452087,;NUCB1,synonymous_variant,p.%3D,ENST00000424608,;NUCB1,synonymous_variant,p.%3D,ENST00000411700,;TULP2,upstream_gene_variant,,ENST00000221399,;TULP2,upstream_gene_variant,,ENST00000520977,;TULP2,upstream_gene_variant,,ENST00000518572,;TULP2,upstream_gene_variant,,ENST00000522945,;NUCB1,intron_variant,,ENST00000485798,;NUCB1,synonymous_variant,p.%3D,ENST00000443560,;TULP2,upstream_gene_variant,,ENST00000522229,;	353	46	56	SUCCESS
ZNF845	91664	.	GRCh37	19	53854546	53854546	+	synonymous_variant	Silent	SNP	G	G	A	rs1455701572	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	26	148	0	ENST00000458035.1:c.618G>A	p.Gln206=	p.Q206=	ENST00000458035	NM_138374.1	206	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS46170.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGGAAGT	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,synonymous_variant,p.%3D,ENST00000595091,;ZNF845,synonymous_variant,p.%3D,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	735	148	153	SUCCESS
SAFB2	9667	.	GRCh37	19	5592867	5592867	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772797669	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	14	92	0	ENST00000252542.4:c.2239C>T	p.Arg747Cys	p.R747C	ENST00000252542	NM_014649.2	747	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32879.1	2239	RADIA|MUTECT|MUSE|VARSCANS	.	CACACGCTTTC	NONE	.	.	hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4	.	.	ENSP00000252542	.	16/21	.	.	.	.	.	.	.	.	rs772797669,COSM1189784	16/21	PASS	ENST00000252542	Transcript	.	.	ENSG00000130254	21605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.217)	.	deleterious(0)	0,1	SAFB2_HUMAN	SAFB2	HGNC	.	.	UPI0000071DB7	SNV	SAFB2,missense_variant,p.Arg747Cys,ENST00000252542,;SAFB2,non_coding_transcript_exon_variant,,ENST00000589925,;SAFB2,upstream_gene_variant,,ENST00000587802,;SAFB2,non_coding_transcript_exon_variant,,ENST00000590000,;	2504	92	102	SUCCESS
BSG	682	.	GRCh37	19	577930	577930	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376649749	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	23	118	0	ENST00000333511.3:c.224G>A	p.Arg75Gln	p.R75Q	ENST00000333511	NM_001728.3	75	cGg/cAg	0	T:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12033.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGGCTGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF12,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000333769	.	2/9	.	.	.	.	.	.	.	.	rs376649749	2/9	PASS	ENST00000333511	Transcript	1	.	ENSG00000172270	1116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	deleterious(0.01)	.	BASI_HUMAN	BSG	HGNC	R4GN83_HUMAN,R4GMX5_HUMAN	.	UPI0000051E38	SNV	BSG,missense_variant,p.Arg75Gln,ENST00000333511,;BSG,intron_variant,,ENST00000353555,;BSG,intron_variant,,ENST00000573784,;BSG,intron_variant,,ENST00000545507,;BSG,intron_variant,,ENST00000576984,;BSG,intron_variant,,ENST00000573216,;BSG,intron_variant,,ENST00000346916,;BSG,non_coding_transcript_exon_variant,,ENST00000574970,;BSG,non_coding_transcript_exon_variant,,ENST00000590218,;BSG,intron_variant,,ENST00000572899,;BSG,intron_variant,,ENST00000576925,;BSG,upstream_gene_variant,,ENST00000571735,;	294	118	138	SUCCESS
ZNF274	10782	.	GRCh37	19	58721436	58721436	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	54	0	ENST00000326804.4:c.846T>G	p.Pro282=	p.P282=	ENST00000326804	NM_133502.2	282	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	.	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTGAGGT	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF47,Superfamily_domains:0044637	.	.	ENSP00000321209	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000326804	Transcript	.	.	ENSG00000171606	13068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN274_HUMAN	ZNF274	HGNC	M0QY30_HUMAN,M0QXW4_HUMAN	.	UPI000013D855	SNV	ZNF274,synonymous_variant,p.%3D,ENST00000424679,;ZNF274,synonymous_variant,p.%3D,ENST00000345813,;ZNF274,synonymous_variant,p.%3D,ENST00000326804,;ZNF274,downstream_gene_variant,,ENST00000594839,;ZNF274,non_coding_transcript_exon_variant,,ENST00000599438,;ZNF274,non_coding_transcript_exon_variant,,ENST00000597818,;ZNF274,downstream_gene_variant,,ENST00000595772,;ZNF274,downstream_gene_variant,,ENST00000601777,;ZNF274,non_coding_transcript_exon_variant,,ENST00000595146,;ZNF274,non_coding_transcript_exon_variant,,ENST00000599081,;ZNF274,non_coding_transcript_exon_variant,,ENST00000598143,;ZNF274,non_coding_transcript_exon_variant,,ENST00000601156,;	1305	54	56	SUCCESS
TRIP10	9322	.	GRCh37	19	6746112	6746112	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778416697	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	26	153	0	ENST00000313244.9:c.1057C>A	p.Arg353Ser	p.R353S	ENST00000313244		353	Cgc/Agc	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12172.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCGCTCC	NONE	.	.	.	.	.	ENSP00000320493	.	.	.	.	.	.	.	.	.	.	rs778416697	.	PASS	ENST00000313285	Transcript	.	.	ENSG00000125733	12304	.	.	MODIFIER	9/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CIP4_HUMAN	TRIP10	HGNC	M0R0F9_HUMAN,M0R070_HUMAN	.	UPI00001279E3	SNV	TRIP10,missense_variant,p.Arg353Ser,ENST00000313244,;TRIP10,intron_variant,,ENST00000313285,;TRIP10,intron_variant,,ENST00000596758,;TRIP10,intron_variant,,ENST00000600428,;TRIP10,downstream_gene_variant,,ENST00000596673,;CTD-3128G10.6,downstream_gene_variant,,ENST00000594056,;TRIP10,downstream_gene_variant,,ENST00000596543,;TRIP10,downstream_gene_variant,,ENST00000601303,;TRIP10,intron_variant,,ENST00000595305,;TRIP10,intron_variant,,ENST00000600677,;TRIP10,downstream_gene_variant,,ENST00000596078,;TRIP10,downstream_gene_variant,,ENST00000595319,;TRIP10,upstream_gene_variant,,ENST00000598843,;TRIP10,downstream_gene_variant,,ENST00000600491,;	.	153	185	SUCCESS
KANK3	256949	.	GRCh37	19	8399396	8399396	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1465876250	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	26	0	ENST00000593649.1:c.1315G>A	p.Val439Met	p.V439M	ENST00000593649		439	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS12199.1	1315	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCACGGCCC	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF22	.	.	ENSP00000328923	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000330915	Transcript	.	.	ENSG00000186994	24796	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	tolerated(0.17)	.	KANK3_HUMAN	KANK3	HGNC	.	.	UPI000004FDF5	SNV	KANK3,missense_variant,p.Val439Met,ENST00000593649,;KANK3,missense_variant,p.Val439Met,ENST00000330915,;KANK3,intron_variant,,ENST00000595639,;KANK3,non_coding_transcript_exon_variant,,ENST00000593331,;	1381	26	47	SUCCESS
IGSF3	3321	.	GRCh37	1	117156546	117156546	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	126	0	ENST00000369486.3:c.673G>A	p.Gly225Arg	p.G225R	ENST00000369486	NM_001007237.2	225	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS30814.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCCAGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358495	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Gly225Arg,ENST00000318837,;IGSF3,missense_variant,p.Gly225Arg,ENST00000369486,;IGSF3,missense_variant,p.Gly225Arg,ENST00000369483,;IGSF3,downstream_gene_variant,,ENST00000481589,;	1378	126	114	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144868126	144868126	+	synonymous_variant	Silent	SNP	G	G	A	rs369950064	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	8	92	0	ENST00000369354.3:c.5313C>T	p.Asn1771=	p.N1771=	ENST00000369354		1771	aaC/aaT	0	A:0	A:0	.	A:0	.	A	N	protein_coding	YES	CCDS55627.1	5313	MUTECT|MUSE	.	AAGTCGTTGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	A:0	A:0.0001	ENSP00000358363	A:0	33/44	.	.	.	.	.	.	.	.	rs369950064	33/44	PASS	ENST00000369356	Transcript	.	A:0.0002	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,upstream_gene_variant,,ENST00000530130,;RP4-791M13.4,downstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,upstream_gene_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000494734,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000481227,;PDE4DIP,upstream_gene_variant,,ENST00000527901,;	5604	92	171	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144892333	144892333	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	15	136	0	ENST00000369354.3:c.2904+168A>G		p.*968*	ENST00000369354				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55627.1	.	MUTECT|MUSE	.	ATGGGTTGGAA	NONE	.	.	.	.	.	ENSP00000358363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODIFIER	22/43	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,3_prime_UTR_variant,,ENST00000369351,;PDE4DIP,intron_variant,,ENST00000369354,;PDE4DIP,intron_variant,,ENST00000491426,;PDE4DIP,intron_variant,,ENST00000369349,;PDE4DIP,intron_variant,,ENST00000313431,;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000313382,;PDE4DIP,intron_variant,,ENST00000369356,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533963,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	.	136	180	SUCCESS
TCHH	7062	.	GRCh37	1	152080721	152080721	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749152495	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	22	101	0	ENST00000368804.1:c.4972G>A	p.Glu1658Lys	p.E1658K	ENST00000368804	NM_007113.3	1658	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41396.1	4972	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTCGCGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	rs749152495	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Glu1658Lys,ENST00000368804,;	4972	101	211	SUCCESS
IVL	3713	.	GRCh37	1	152882767	152882767	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs756472719	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	206	162	226	0	ENST00000368764.3:c.494A>C	p.His165Pro	p.H165P	ENST00000368764		165	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS1030.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCACCTAG	BUFFER|p.H162Q|c.486C>G|3	.	.	hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	rs756472719	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.2)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.His165Pro,ENST00000368764,;IVL,missense_variant,p.His19Pro,ENST00000392667,;	558	227	369	SUCCESS
IVL	3713	.	GRCh37	1	152883444	152883444	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866828273	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	17	122	0	ENST00000368764.3:c.1171G>A	p.Gly391Arg	p.G391R	ENST00000368764		391	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS1030.1	1171	MUTECT|MUSE	.	AGGAGGGGCAG	NONE	.	.	hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	tolerated(0.33)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.Gly391Arg,ENST00000368764,;IVL,missense_variant,p.Gly245Arg,ENST00000392667,;	1235	122	212	SUCCESS
CKS1B	1163	.	GRCh37	1	154950543	154950543	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	24	115	0	ENST00000308987.5:c.140G>A	p.Gly47Asp	p.G47D	ENST00000308987	NM_001826.2	47	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1077.1	140	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGGCGTTC	NONE	.	.	hmmpanther:PTHR23415,Pfam_domain:PF01111,Gene3D:3.30.170.10,SMART_domains:SM01084,Superfamily_domains:SSF55637,Prints_domain:PR00296	.	.	ENSP00000311083	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000308987	Transcript	.	.	ENSG00000173207	19083	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CKS1_HUMAN	CKS1B	HGNC	Q5T178_HUMAN,D3DV79_HUMAN	.	UPI0000003ED9	SNV	CKS1B,missense_variant,p.Gly47Asp,ENST00000308987,;CKS1B,missense_variant,p.Gly47Asp,ENST00000368436,;CKS1B,missense_variant,p.Gly31Asp,ENST00000368439,;SHC1,upstream_gene_variant,,ENST00000412170,;SHC1,upstream_gene_variant,,ENST00000368453,;SHC1,upstream_gene_variant,,ENST00000366442,;SHC1,upstream_gene_variant,,ENST00000368450,;MIR4258,downstream_gene_variant,,ENST00000580920,;CKS1B,non_coding_transcript_exon_variant,,ENST00000474215,;CKS1B,non_coding_transcript_exon_variant,,ENST00000471245,;CKS1B,non_coding_transcript_exon_variant,,ENST00000473344,;CKS1B,non_coding_transcript_exon_variant,,ENST00000477676,;	187	115	172	SUCCESS
ZBTB7B	51043	.	GRCh37	1	154986993	154986993	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	17	0	ENST00000292176.2:c.-144G>C		p.*48*	ENST00000292176				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58030.1	.	MUTECT|MUSE	.	TGGAAGATGAA	NONE	.	.	.	.	.	ENSP00000406286	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000417934	Transcript	.	.	ENSG00000160685	18668	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT7B_HUMAN	ZBTB7B	HGNC	.	.	UPI0001A5EB6F	SNV	ZBTB7B,5_prime_UTR_variant,,ENST00000292176,;ZBTB7B,intron_variant,,ENST00000535420,;ZBTB7B,intron_variant,,ENST00000368426,;ZBTB7B,intron_variant,,ENST00000417934,;DCST2,downstream_gene_variant,,ENST00000368424,;ZBTB7B,intron_variant,,ENST00000461530,;ZBTB7B,intron_variant,,ENST00000483226,;ZBTB7B,intron_variant,,ENST00000487542,;DCST2,downstream_gene_variant,,ENST00000485982,;DCST2,downstream_gene_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000467991,;	.	17	26	SUCCESS
SPTA1	6708	.	GRCh37	1	158646066	158646066	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1244079571	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	14	75	0	ENST00000368147.4:c.977A>C	p.Lys326Thr	p.K326T	ENST00000368147	NM_003126.2	326	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS41423.1	977	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTTTAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.925)	.	tolerated(0.11)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Lys326Thr,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000467387,;	1158	75	136	SUCCESS
NR1I3	9970	.	GRCh37	1	161205749	161205749	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	63	0	ENST00000367982.4:c.126C>G	p.Ser42Arg	p.S42R	ENST00000367982		42	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS41429.1	126	MUTECT|MUSE	.	CCAATGCTTTT	NONE	.	.	Prints_domain:PR00047,Superfamily_domains:SSF57716,SMART_domains:SM00399,Pfam_domain:PF00105,Gene3D:3.30.50.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231,PROSITE_profiles:PS51030	.	.	ENSP00000356959	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000367980	Transcript	.	.	ENSG00000143257	7969	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.256)	.	tolerated(0.09)	.	NR1I3_HUMAN	NR1I3	HGNC	F1DAL4_HUMAN	.	UPI00003E7F93	SNV	NR1I3,missense_variant,p.Ser13Arg,ENST00000511676,;NR1I3,missense_variant,p.Ser13Arg,ENST00000512372,;NR1I3,missense_variant,p.Ser42Arg,ENST00000367985,;NR1I3,missense_variant,p.Ser13Arg,ENST00000367981,;NR1I3,missense_variant,p.Ser42Arg,ENST00000367984,;NR1I3,missense_variant,p.Ser13Arg,ENST00000506209,;NR1I3,missense_variant,p.Ser42Arg,ENST00000367979,;NR1I3,missense_variant,p.Ser13Arg,ENST00000508740,;NR1I3,missense_variant,p.Ser42Arg,ENST00000502985,;NR1I3,missense_variant,p.Ser42Arg,ENST00000367983,;NR1I3,missense_variant,p.Ser42Arg,ENST00000511944,;NR1I3,missense_variant,p.Ser42Arg,ENST00000442691,;NR1I3,missense_variant,p.Ser13Arg,ENST00000504010,;NR1I3,missense_variant,p.Ser13Arg,ENST00000412844,;NR1I3,missense_variant,p.Ser42Arg,ENST00000428574,;NR1I3,missense_variant,p.Ser42Arg,ENST00000367982,;NR1I3,missense_variant,p.Ser42Arg,ENST00000367980,;NR1I3,missense_variant,p.Ser13Arg,ENST00000511748,;NR1I3,missense_variant,p.Ser13Arg,ENST00000437437,;NR1I3,missense_variant,p.Ser42Arg,ENST00000515452,;NR1I3,missense_variant,p.Ser13Arg,ENST00000508387,;NR1I3,missense_variant,p.Ser42Arg,ENST00000505005,;NR1I3,5_prime_UTR_variant,,ENST00000515621,;NR1I3,non_coding_transcript_exon_variant,,ENST00000503547,;NR1I3,upstream_gene_variant,,ENST00000464422,;NR1I3,upstream_gene_variant,,ENST00000488651,;NR1I3,upstream_gene_variant,,ENST00000479324,;NR1I3,missense_variant,p.Ser13Arg,ENST00000510951,;NR1I3,missense_variant,p.Ser13Arg,ENST00000512340,;NR1I3,missense_variant,p.Ser13Arg,ENST00000506018,;NR1I3,missense_variant,p.Ser42Arg,ENST00000502848,;NR1I3,missense_variant,p.Ser13Arg,ENST00000507215,;NR1I3,non_coding_transcript_exon_variant,,ENST00000505944,;NR1I3,non_coding_transcript_exon_variant,,ENST00000491193,;	329	63	113	SUCCESS
MAEL	84944	.	GRCh37	1	166958660	166958660	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756146420	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	16	78	0	ENST00000367872.4:c.71G>A	p.Arg24Gln	p.R24Q	ENST00000367872	NM_032858.1	24	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS1257.1	71	RADIA|MUTECT|MUSE	.	ACGGCGACGAG	BUFFER|p.E21K|c.61G>A|3	.	.	hmmpanther:PTHR21358,hmmpanther:PTHR21358:SF3,Gene3D:1.10.30.10,Pfam_domain:PF09011,Superfamily_domains:SSF47095	.	.	ENSP00000356846	.	1/12	.	.	.	.	.	.	.	.	rs756146420	1/12	PASS	ENST00000367872	Transcript	.	.	ENSG00000143194	25929	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.099)	.	tolerated(0.14)	.	MAEL_HUMAN	MAEL	HGNC	E9JVC4_HUMAN	.	UPI0000042202	SNV	MAEL,missense_variant,p.Arg24Gln,ENST00000447624,;MAEL,missense_variant,p.Arg24Gln,ENST00000367870,;MAEL,missense_variant,p.Arg24Gln,ENST00000367872,;MAEL,upstream_gene_variant,,ENST00000491055,;	315	78	141	SUCCESS
FAM129A	0	.	GRCh37	1	184801016	184801016	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	26	168	0	ENST00000367511.3:c.682G>A	p.Gly228Ser	p.G228S	ENST00000367511	NM_052966.3	228	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1364.1	682	RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCATAGT	NONE	.	.	hmmpanther:PTHR14392:SF3,hmmpanther:PTHR14392	.	.	ENSP00000356481	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000367511	Transcript	.	.	ENSG00000135842	16784	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	NIBAN_HUMAN	FAM129A	HGNC	.	.	UPI00000375B3	SNV	FAM129A,missense_variant,p.Gly228Ser,ENST00000367511,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;FAM129A,non_coding_transcript_exon_variant,,ENST00000461167,;	876	168	252	SUCCESS
CDA	978	.	GRCh37	1	20940339	20940339	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	69	0	ENST00000375071.3:c.271A>G	p.Met91Val	p.M91V	ENST00000375071	NM_001785.2	91	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS210.1	271	MUTECT|MUSE|VARSCANS	.	GTGACATGCAA	NONE	.	.	hmmpanther:PTHR11644,PROSITE_patterns:PS00903,TIGRFAM_domain:TIGR01354,Pfam_domain:PF00383,Gene3D:3.40.140.10,Superfamily_domains:SSF53927	.	.	ENSP00000364212	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000375071	Transcript	.	.	ENSG00000158825	1712	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.85)	.	CDD_HUMAN	CDA	HGNC	Q71UE9_HUMAN	.	UPI0000127406	SNV	CDA,missense_variant,p.Met91Val,ENST00000375071,;CDA,intron_variant,,ENST00000461985,;	453	69	61	SUCCESS
TRIM67	440730	.	GRCh37	1	231299711	231299711	+	synonymous_variant	Silent	SNP	C	C	T	rs1383498568	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	29	97	0	ENST00000366653.5:c.996C>T	p.His332=	p.H332=	ENST00000366653		332	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS44333.1	996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCACGCCAA	NONE	.	.	Superfamily_domains:SSF57845,SMART_domains:SM00336,Pfam_domain:PF00643,Gene3D:1freA00,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50119	.	.	ENSP00000355613	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	SNV	TRIM67,synonymous_variant,p.%3D,ENST00000444294,;TRIM67,synonymous_variant,p.%3D,ENST00000366652,;TRIM67,synonymous_variant,p.%3D,ENST00000449018,;TRIM67,synonymous_variant,p.%3D,ENST00000366653,;	996	97	153	SUCCESS
UTP11L	0	.	GRCh37	1	38484813	38484813	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	5	181	0	ENST00000373014.4:c.425C>A	p.Thr142Asn	p.T142N	ENST00000373014	NM_016037.3	142	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS429.1	425	MUTECT|MUSE	.	TGACACCAAAA	NONE	.	.	hmmpanther:PTHR12838,Pfam_domain:PF03998,PIRSF_domain:PIRSF015952	.	.	ENSP00000362105	.	5/8	.	.	.	.	.	.	.	.	COSM3805115	5/8	PASS	ENST00000373014	Transcript	.	.	ENSG00000183520	24329	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.004)	.	tolerated(0.32)	1	UTP11_HUMAN	UTP11L	HGNC	.	.	UPI000006FDFC	SNV	UTP11L,missense_variant,p.Thr142Asn,ENST00000537711,;UTP11L,missense_variant,p.Thr142Asn,ENST00000373014,;UTP11L,non_coding_transcript_exon_variant,,ENST00000488453,;UTP11L,downstream_gene_variant,,ENST00000486563,;UTP11L,downstream_gene_variant,,ENST00000483182,;	486	182	142	SUCCESS
LRRC7	57554	.	GRCh37	1	70300494	70300494	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	16	88	0	ENST00000035383.5:c.418C>T	p.Leu140=	p.L140=	ENST00000035383	NM_020794.2	140	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS645.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACCTGACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000035383	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,synonymous_variant,p.%3D,ENST00000370958,;LRRC7,synonymous_variant,p.%3D,ENST00000035383,;LRRC7,synonymous_variant,p.%3D,ENST00000310961,;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	448	88	95	SUCCESS
TNNI3K	51086	.	GRCh37	1	74957809	74957809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	26	138	0	ENST00000326637.3:c.2210G>A	p.Ser737Asn	p.S737N	ENST00000326637	NM_015978.2	737	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	.	2513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGTGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257	.	.	ENSP00000359928	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000370891	Transcript	.	.	ENSG00000116783	19661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.386)	.	tolerated_low_confidence(0.14)	.	TNI3K_HUMAN	TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI00005E2707	SNV	TNNI3K,missense_variant,p.Ser838Asn,ENST00000370891,;FPGT-TNNI3K,missense_variant,p.Ser851Asn,ENST00000557284,;TNNI3K,missense_variant,p.Ser737Asn,ENST00000326637,;LRRC53,intron_variant,,ENST00000294635,;	2529	138	107	SUCCESS
RBL1	5933	.	GRCh37	20	35695127	35695127	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	41	83	0	ENST00000373664.3:c.846G>C	p.Lys282Asn	p.K282N	ENST00000373664	NM_002895.3	282	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS13289.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCTTCCT	NONE	.	.	hmmpanther:PTHR13742:SF20,hmmpanther:PTHR13742	.	.	ENSP00000362768	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	deleterious(0)	.	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,missense_variant,p.Lys282Asn,ENST00000373664,;RBL1,missense_variant,p.Lys87Asn,ENST00000525052,;RBL1,missense_variant,p.Lys282Asn,ENST00000344359,;RBL1,downstream_gene_variant,,ENST00000527999,;	913	83	114	SUCCESS
PCIF1	63935	.	GRCh37	20	44574977	44574977	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	50	0	ENST00000372409.3:c.1567T>C	p.Tyr523His	p.Y523H	ENST00000372409	NM_022104.3	523	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS13388.1	1567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTACTGT	NONE	.	.	hmmpanther:PTHR21727,Pfam_domain:PF12237	.	.	ENSP00000361486	.	14/17	.	.	.	.	.	.	.	.	COSM1681723	14/17	PASS	ENST00000372409	Transcript	.	.	ENSG00000100982	16200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.989)	.	deleterious(0)	1	PCIF1_HUMAN	PCIF1	HGNC	.	.	UPI000000D717	SNV	PCIF1,missense_variant,p.Tyr523His,ENST00000372409,;ZNF335,downstream_gene_variant,,ENST00000322927,;ZNF335,downstream_gene_variant,,ENST00000426788,;PCIF1,non_coding_transcript_exon_variant,,ENST00000479348,;	1931	50	46	SUCCESS
ARFGEF2	10564	.	GRCh37	20	47601303	47601303	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1325223579	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	28	141	0	ENST00000371917.4:c.1996C>T	p.Gln666Ter	p.Q666*	ENST00000371917	NM_006420.2	666	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS13411.1	1996	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCAGGAG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Gene3D:1.10.220.20,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000360985	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000371917	Transcript	1	.	ENSG00000124198	15853	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BIG2_HUMAN	ARFGEF2	HGNC	Q59FR3_HUMAN	.	UPI000013D378	SNV	ARFGEF2,stop_gained,p.Gln666Ter,ENST00000371917,;	1996	141	179	SUCCESS
SALL4	57167	.	GRCh37	20	50408507	50408510	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	GCTA	GCTA	CCT	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	GCTA	GCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	68	0	ENST00000217086.4:c.512_515delinsAGG	p.Leu171Ter	p.L171*	ENST00000217086	NM_020436.3	171	tTAGCc/tAGGc	0	.	.	.	.	.	CCT	LA/*	protein_coding	YES	CCDS13438.1	512-515	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCTTTGGCTAAATAG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	.	.	ENSP00000217086	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000217086	Transcript	1	.	ENSG00000101115	15924	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL4_HUMAN	SALL4	HGNC	.	.	UPI0000135527	substitution	SALL4,stop_gained,p.Leu171Ter,ENST00000217086,;SALL4,stop_gained,p.Leu171Ter,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000481363,;SALL4,downstream_gene_variant,,ENST00000483130,;	624-627	68	76	SUCCESS
GNAS	2778	.	GRCh37	20	57484420	57484420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11554273	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	32	125	0	ENST00000371085.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000371085	NM_000516.4	201	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS46622.1	2530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGTGTC	SITE|p.R844C|c.2530C>T|31,SITE|p.R201C|c.601C>T|420,BUFFER|p.R201S|c.601C>A|15,BUFFER|p.R844H|c.2531G>A|25,BUFFER|p.R201L|c.602G>T|3,BUFFER|p.R201H|c.602G>A|306	.	.	hmmpanther:PTHR10218:SF36,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540,Superfamily_domains:SSF47895,Prints_domain:PR00318	.	.	ENSP00000360141	.	8/13	.	.	.	.	.	.	.	.	COSM27899,COSM1757313,COSM27887,COSM1566192,COSM123397	8/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1,1,1,1	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Arg201Cys,ENST00000371085,;GNAS,missense_variant,p.Arg187Cys,ENST00000306090,;GNAS,missense_variant,p.Arg142Cys,ENST00000604005,;GNAS,missense_variant,p.Arg202Cys,ENST00000354359,;GNAS,missense_variant,p.Arg187Cys,ENST00000371095,;GNAS,missense_variant,p.Arg830Cys,ENST00000371102,;GNAS,missense_variant,p.Arg186Cys,ENST00000265620,;GNAS,missense_variant,p.Arg844Cys,ENST00000371100,;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000482112,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000472183,;GNAS,non_coding_transcript_exon_variant,,ENST00000464788,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000467227,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,upstream_gene_variant,,ENST00000475610,;	3082	125	111	SUCCESS
LIPI	149998	.	GRCh37	21	15535777	15535777	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	18	148	0	ENST00000344577.2:c.1032T>A	p.Thr344=	p.T344=	ENST00000344577	NM_198996.2	344	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13564.1	1032	RADIA|MUTECT|MUSE|VARSCANS	.	AACACAGTGGT	NONE	.	.	hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000343331	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,synonymous_variant,p.%3D,ENST00000536861,;LIPI,synonymous_variant,p.%3D,ENST00000344577,;LIPI,downstream_gene_variant,,ENST00000400211,;	1058	148	175	SUCCESS
IL10RB	3588	.	GRCh37	21	34638742	34638742	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	105	0	ENST00000290200.2:c.-29G>C		p.*10*	ENST00000290200	NM_000628.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13623.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGGAAGC	NONE	.	.	.	.	.	ENSP00000290200	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000290200	Transcript	.	.	ENSG00000243646	5965	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	I10R2_HUMAN	IL10RB	HGNC	.	.	UPI0000072ECA	SNV	IL10RB,5_prime_UTR_variant,,ENST00000290200,;AP000295.9,intron_variant,,ENST00000433395,;IFNAR2,downstream_gene_variant,,ENST00000342136,;IFNAR2,downstream_gene_variant,,ENST00000413881,;IFNAR2,downstream_gene_variant,,ENST00000342101,;IFNAR2,downstream_gene_variant,,ENST00000404220,;IFNAR2,downstream_gene_variant,,ENST00000382241,;IFNAR2,downstream_gene_variant,,ENST00000443073,;IFNAR2,downstream_gene_variant,,ENST00000382264,;IL10RB-AS1,upstream_gene_variant,,ENST00000411998,;IL10RB,5_prime_UTR_variant,,ENST00000422891,;AP000295.9,intron_variant,,ENST00000432231,;IFNAR2,downstream_gene_variant,,ENST00000417007,;IFNAR2,downstream_gene_variant,,ENST00000382238,;IL10RB,upstream_gene_variant,,ENST00000493295,;IL10RB,upstream_gene_variant,,ENST00000498371,;	80	105	91	SUCCESS
ETS2	2114	.	GRCh37	21	40186286	40186286	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	16	89	0	ENST00000360214.3:c.274A>C	p.Lys92Gln	p.K92Q	ENST00000360214	NM_001256295.1	92	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS13659.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAAAGGAA	NONE	.	.	PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF167,Gene3D:1.10.150.50,Pfam_domain:PF02198,PIRSF_domain:PIRSF001698,PIRSF_domain:PIRSF501032,SMART_domains:SM00251,Superfamily_domains:SSF47769	.	.	ENSP00000353344	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000360214	Transcript	.	.	ENSG00000157557	3489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	tolerated(0.05)	.	ETS2_HUMAN	ETS2	HGNC	C9JAG2_HUMAN	.	UPI0000000E04	SNV	ETS2,missense_variant,p.Lys92Gln,ENST00000456966,;ETS2,missense_variant,p.Lys92Gln,ENST00000360214,;ETS2,missense_variant,p.Lys92Gln,ENST00000432278,;ETS2,missense_variant,p.Lys92Gln,ENST00000360938,;	734	89	100	SUCCESS
EP300	2033	.	GRCh37	22	41523630	41523630	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	19	132	0	ENST00000263253.7:c.1046A>G	p.His349Arg	p.H349R	ENST00000263253	NM_001429.3	349	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14010.1	1046	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCACAAGT	NONE	.	.	PROSITE_profiles:PS50134,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4,Gene3D:1.20.1020.10,Pfam_domain:PF02135,SMART_domains:SM00551,Superfamily_domains:SSF57933	.	.	ENSP00000263253	.	4/31	.	.	.	.	.	.	.	.	.	4/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.His349Arg,ENST00000263253,;	2265	132	133	SUCCESS
CYP2D6	1565	.	GRCh37	22	42522650	42522650	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs185772085	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	20	176	0	ENST00000360608.5:c.1420C>T	p.Arg474Trp	p.R474W	ENST00000360608	NM_000106.5	474	Cgg/Tgg	0	.	T:0.0008	.	T:0	.	A	R/W	protein_coding	YES	CCDS46721.1	1420	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGGGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	T:0	.	ENSP00000353820	T:0	9/9	.	.	.	.	.	.	.	.	rs185772085	9/9	PASS	ENST00000360608	Transcript	.	T:0.0002	ENSG00000100197	2625	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.929)	T:0	deleterious(0)	.	.	CYP2D6	HGNC	Q6NWU0_HUMAN,Q007T9_HUMAN	.	UPI0000157756	SNV	CYP2D6,missense_variant,p.Arg474Trp,ENST00000360608,;CYP2D6,missense_variant,p.Arg423Trp,ENST00000359033,;CYP2D6,missense_variant,p.Arg474Trp,ENST00000389970,;NDUFA6-AS1,intron_variant,,ENST00000416037,;NDUFA6-AS1,intron_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000451451,;NDUFA6-AS1,downstream_gene_variant,,ENST00000600968,;NDUFA6-AS1,downstream_gene_variant,,ENST00000595777,;NDUFA6-AS1,downstream_gene_variant,,ENST00000434834,;NDUFA6-AS1,downstream_gene_variant,,ENST00000610250,;NDUFA6-AS1,downstream_gene_variant,,ENST00000417327,;NDUFA6-AS1,downstream_gene_variant,,ENST00000536447,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609499,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608643,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609833,;NDUFA6-AS1,downstream_gene_variant,,ENST00000547929,;	1535	176	147	SUCCESS
WDR33	55339	.	GRCh37	2	128480544	128480544	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200713285	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	135	0	ENST00000322313.4:c.1366C>A	p.Gln456Lys	p.Q456K	ENST00000322313	NM_018383.4	456	Caa/Aaa	0	.	C:0	.	C:0	.	T	Q/K	protein_coding	YES	CCDS2150.1	1366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGTTCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR22836	C:0	.	ENSP00000325377	C:0.001	13/22	.	.	.	.	.	.	.	.	rs200713285	13/22	PASS	ENST00000322313	Transcript	.	C:0.0002	ENSG00000136709	25651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0	deleterious(0.03)	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,missense_variant,p.Gln456Lys,ENST00000322313,;WDR33,downstream_gene_variant,,ENST00000436787,;	1525	135	135	SUCCESS
UBXN4	23190	.	GRCh37	2	136499582	136499582	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	48	268	1	ENST00000272638.9:c.82+1G>C		p.X28_splice	ENST00000272638	NM_014607.3	28		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42761.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGTGAAG	NONE	.	.	.	.	.	ENSP00000272638	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000272638	Transcript	.	.	ENSG00000144224	14860	.	.	HIGH	1/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBXN4_HUMAN	UBXN4	HGNC	B3KTD5_HUMAN	.	UPI0000074226	SNV	UBXN4,splice_donor_variant,,ENST00000272638,;UBXN4,splice_donor_variant,,ENST00000415164,;UBXN4,upstream_gene_variant,,ENST00000467065,;UBXN4,splice_donor_variant,,ENST00000426921,;UBXN4,splice_donor_variant,,ENST00000416538,;	.	269	250	SUCCESS
KYNU	8942	.	GRCh37	2	143676177	143676177	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	235	32	247	0	ENST00000264170.4:c.170-1G>C		p.X57_splice	ENST00000264170	NM_003937.2	57		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2183.1	.	RADIA|VARSCANS	.	TTTCAGTTGAT	NONE	.	.	.	.	.	ENSP00000264170	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264170	Transcript	.	.	ENSG00000115919	6469	.	.	HIGH	2/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KYNU_HUMAN	KYNU	HGNC	Q53SY0_HUMAN,Q53SX6_HUMAN	.	UPI000012E176	SNV	KYNU,splice_acceptor_variant,,ENST00000410015,;KYNU,splice_acceptor_variant,,ENST00000264170,;KYNU,splice_acceptor_variant,,ENST00000375773,;KYNU,splice_acceptor_variant,,ENST00000409512,;KYNU,intron_variant,,ENST00000424385,;KYNU,upstream_gene_variant,,ENST00000460143,;	.	247	267	SUCCESS
PLA2R1	22925	.	GRCh37	2	160803113	160803113	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	40	0	ENST00000283243.7:c.3967+199C>T		p.*1323*	ENST00000283243	NM_001195641.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33309.1	.	MUTECT|MUSE	.	TTGGTGTTCTG	NONE	.	.	.	.	.	ENSP00000283243	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODIFIER	27/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,3_prime_UTR_variant,,ENST00000392771,;PLA2R1,intron_variant,,ENST00000283243,;PLA2R1,upstream_gene_variant,,ENST00000460710,;	.	40	46	SUCCESS
B3GALT1	8708	.	GRCh37	2	168725536	168725536	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs565639529	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	64	0	ENST00000392690.3:c.-14G>T		p.*5*	ENST00000392690				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2227.1	.	MUTECT|MUSE	.	TAGACGTGTTC	NONE	.	.	.	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	rs565639529	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,5_prime_UTR_variant,,ENST00000305861,;B3GALT1,5_prime_UTR_variant,,ENST00000392690,;AC016723.4,intron_variant,,ENST00000430546,;AC016723.4,intron_variant,,ENST00000436982,;	79	64	62	SUCCESS
PRKRA	8575	.	GRCh37	2	179315937	179315937	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	16	0	ENST00000325748.4:c.-180T>C		p.*60*	ENST00000325748	NM_003690.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2279.1	.	MUTECT|MUSE	.	GCCGTAGCTCC	NONE	.	.	.	.	.	ENSP00000318176	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325748	Transcript	.	.	ENSG00000180228	9438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRKRA_HUMAN	PRKRA	HGNC	G5E9Q4_HUMAN,B4DJC7_HUMAN	.	UPI0000073B07	SNV	PRKRA,5_prime_UTR_variant,,ENST00000325748,;DFNB59,upstream_gene_variant,,ENST00000442710,;PRKRA,upstream_gene_variant,,ENST00000438687,;PRKRA,upstream_gene_variant,,ENST00000432031,;DFNB59,upstream_gene_variant,,ENST00000375129,;PRKRA,upstream_gene_variant,,ENST00000487082,;DFNB59,upstream_gene_variant,,ENST00000409117,;PRKRA,upstream_gene_variant,,ENST00000457633,;PRKRA,intron_variant,,ENST00000470200,;PRKRA,upstream_gene_variant,,ENST00000460433,;DFNB59,upstream_gene_variant,,ENST00000605419,;PRKRA,upstream_gene_variant,,ENST00000424699,;PRKRA,upstream_gene_variant,,ENST00000466165,;PRKRA,upstream_gene_variant,,ENST00000463882,;DFNB59,upstream_gene_variant,,ENST00000444615,;DFNB59,upstream_gene_variant,,ENST00000437056,;PRKRA,upstream_gene_variant,,ENST00000448279,;AC009948.7,upstream_gene_variant,,ENST00000437039,;	22	16	15	SUCCESS
TTN	7273	.	GRCh37	2	179610300	179610300	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	54	0	ENST00000591111.1:c.10361-3652T>A		p.*3454*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTAAAACAT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,3_prime_UTR_variant,,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	.	54	65	SUCCESS
MAP2	4133	.	GRCh37	2	210560690	210560690	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	20	105	0	ENST00000360351.4:c.3796A>C	p.Arg1266=	p.R1266=	ENST00000360351	NM_002374.3	1266	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS2384.1	3796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGGGAG	NONE	.	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,synonymous_variant,p.%3D,ENST00000447185,;MAP2,synonymous_variant,p.%3D,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	4302	105	121	SUCCESS
CPS1	1373	.	GRCh37	2	211525234	211525234	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	24	136	0	ENST00000233072.5:c.3782C>T	p.Ser1261Phe	p.S1261F	ENST00000233072	NM_001875.4	1261	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS46505.1	3800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTCTCGAT	NONE	.	.	PROSITE_profiles:PS50975,hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Pfam_domain:PF02786,Gene3D:3.30.470.20,Superfamily_domains:SSF56059	.	.	ENSP00000402608	.	33/39	.	.	.	.	.	.	.	.	.	33/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Ser1267Phe,ENST00000430249,;CPS1,missense_variant,p.Ser1261Phe,ENST00000233072,;CPS1,missense_variant,p.Ser810Phe,ENST00000451903,;CPS1,non_coding_transcript_exon_variant,,ENST00000470791,;	3855	136	115	SUCCESS
ZPLD1	131368	.	GRCh37	3	102187885	102187885	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770785388	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	7	133	1	ENST00000466937.1:c.839G>T	p.Arg280Leu	p.R280L	ENST00000466937		280	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS2947.1	887	MUTECT|MUSE	.	GTTCCGATTTG	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962,PROSITE_profiles:PS51034	.	.	ENSP00000307801	.	8/11	.	.	.	.	.	.	.	.	rs770785388	8/11	PASS	ENST00000306176	Transcript	.	.	ENSG00000170044	27022	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZPLD1_HUMAN	ZPLD1	HGNC	.	.	UPI000006EC89	SNV	ZPLD1,missense_variant,p.Arg280Leu,ENST00000466937,;ZPLD1,missense_variant,p.Arg296Leu,ENST00000306176,;ZPLD1,missense_variant,p.Arg280Leu,ENST00000491959,;	987	134	98	SUCCESS
EPHB1	2047	.	GRCh37	3	134898792	134898793	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	124	45	124	0	ENST00000398015.3:c.1854dup	p.Val619CysfsTer4	p.V619Cfs*4	ENST00000398015	NM_004441.4	617	tct/tcTt	0	.	.	.	.	.	T	S/SX	protein_coding	YES	CCDS46921.1	1850-1851	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTATCTTTTG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000381097	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	insertion	EPHB1,frameshift_variant,p.Val180CysfsTer4,ENST00000493838,;EPHB1,frameshift_variant,p.Val619CysfsTer4,ENST00000398015,;	2220-2221	124	169	SUCCESS
PLOD2	5352	.	GRCh37	3	145824364	145824364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	10	136	0	ENST00000360060.3:c.570T>A	p.Asp190Glu	p.D190E	ENST00000360060	NM_000935.2	190	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3132.1	570	MUTECT|MUSE	.	TGATCATCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6	.	.	ENSP00000282903	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000282903	Transcript	.	.	ENSG00000152952	9082	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLOD2_HUMAN	PLOD2	HGNC	Q9Y6D3_HUMAN,Q96QU5_HUMAN,Q96AR9_HUMAN,E7ETU9_HUMAN	.	UPI0000049C44	SNV	PLOD2,missense_variant,p.Asp190Glu,ENST00000360060,;PLOD2,missense_variant,p.Asp135Glu,ENST00000494950,;PLOD2,missense_variant,p.Asp162Glu,ENST00000469350,;PLOD2,missense_variant,p.Asp190Glu,ENST00000282903,;RP11-274H2.2,downstream_gene_variant,,ENST00000480247,;PLOD2,downstream_gene_variant,,ENST00000480704,;	748	136	129	SUCCESS
FNDC3B	64778	.	GRCh37	3	171944729	171944729	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs778434652	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	77	0	ENST00000336824.4:c.256A>C	p.Ile86Leu	p.I86L	ENST00000336824	NM_001135095.1	86	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS3217.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTATATCTCA	NONE	.	.	hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54	.	.	ENSP00000338523	.	4/26	.	.	.	.	.	.	.	.	rs778434652	4/26	PASS	ENST00000336824	Transcript	.	.	ENSG00000075420	24670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious(0.05)	.	FND3B_HUMAN	FNDC3B	HGNC	.	.	UPI00001AE8B2	SNV	FNDC3B,missense_variant,p.Ile59Leu,ENST00000443501,;FNDC3B,missense_variant,p.Ile86Leu,ENST00000416957,;FNDC3B,missense_variant,p.Ile86Leu,ENST00000415807,;FNDC3B,missense_variant,p.Ile86Leu,ENST00000336824,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000478016,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;RP11-423E7.1,upstream_gene_variant,,ENST00000452665,;	355	77	93	SUCCESS
ATP13A4	84239	.	GRCh37	3	193128830	193128830	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	464	77	539	2	ENST00000342695.4:c.3238C>A	p.Leu1080Ile	p.L1080I	ENST00000342695	NM_032279.2	1080	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS3304.2	3238	RADIA|VARSCANS	.	ACCAAGCTGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473	.	.	ENSP00000339182	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.341)	.	deleterious(0.04)	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Leu96Ile,ENST00000400270,;ATP13A4,missense_variant,p.Leu1061Ile,ENST00000392443,;ATP13A4,missense_variant,p.Leu1080Ile,ENST00000342695,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000482964,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,3_prime_UTR_variant,,ENST00000428352,;	3561	541	542	SUCCESS
AZI2	64343	.	GRCh37	3	28382058	28382058	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	41	197	0	ENST00000479665.1:c.51C>T	p.Ala17=	p.A17=	ENST00000479665	NM_022461.4	17	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2647.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGGGCTTT	NONE	.	.	hmmpanther:PTHR14432	.	.	ENSP00000419371	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000479665	Transcript	.	.	ENSG00000163512	24002	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AZI2_HUMAN	AZI2	HGNC	C9JVK8_HUMAN,C9JGA2_HUMAN	.	UPI000006CE34	SNV	AZI2,synonymous_variant,p.%3D,ENST00000415852,;AZI2,synonymous_variant,p.%3D,ENST00000334100,;AZI2,synonymous_variant,p.%3D,ENST00000414162,;AZI2,synonymous_variant,p.%3D,ENST00000457172,;AZI2,synonymous_variant,p.%3D,ENST00000479665,;AZI2,synonymous_variant,p.%3D,ENST00000420543,;AZI2,non_coding_transcript_exon_variant,,ENST00000295748,;AZI2,non_coding_transcript_exon_variant,,ENST00000463512,;AZI2,upstream_gene_variant,,ENST00000462936,;AZI2,upstream_gene_variant,,ENST00000492044,;AZI2,upstream_gene_variant,,ENST00000488978,;	583	197	181	SUCCESS
RBMS3	27303	.	GRCh37	3	29938929	29938929	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1421332978	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	100	0	ENST00000383767.2:c.851C>T	p.Thr284Met	p.T284M	ENST00000383767		284	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS33724.1	851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCACGCCAT	NONE	.	.	hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219	.	.	ENSP00000373277	.	9/15	.	.	.	.	.	.	.	.	COSM376793,COSM4116787	9/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	1,1	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,missense_variant,p.Thr284Met,ENST00000383767,;RBMS3,missense_variant,p.Thr283Met,ENST00000434693,;RBMS3,missense_variant,p.Thr284Met,ENST00000273139,;RBMS3,missense_variant,p.Thr284Met,ENST00000452462,;RBMS3,missense_variant,p.Thr297Met,ENST00000456853,;RBMS3,missense_variant,p.Thr283Met,ENST00000383766,;RBMS3,missense_variant,p.Thr297Met,ENST00000396583,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497319,;	1187	100	94	SUCCESS
ACVR2B-AS1	100128640	.	GRCh37	3	38496071	38496071	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	93	0	ENST00000441531.1:n.241A>C		p.*81*	ENST00000441531				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2679.1	.	MUTECT|MUSE	.	AGTCATCTGCG	NONE	.	.	.	.	.	ENSP00000340361	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000352511	Transcript	.	.	ENSG00000114739	174	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AVR2B_HUMAN	ACVR2B	HGNC	Q71UM3_HUMAN,Q4VAU9_HUMAN	.	UPI00001AF0AE	SNV	ACVR2B,intron_variant,,ENST00000352511,;ACVR2B-AS1,non_coding_transcript_exon_variant,,ENST00000441531,;ACVR2B,intron_variant,,ENST00000465020,;	.	93	62	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913403	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	154	0	ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTGGTG	SITE|p.S37F|c.110C>T|201,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S37A|c.109T>G|67,CODON|p.S37P|c.109T>C|30,CODON|p.S37C|c.110C>G|157,CODON|p.S37Y|c.110C>A|37,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41A|c.121A>G|828,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5666,COSM5679,COSM5662	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.962)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	390	154	132	SUCCESS
ULK4	54986	.	GRCh37	3	41831172	41831172	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	21	108	0	ENST00000301831.4:c.2174A>T	p.Gln725Leu	p.Q725L	ENST00000301831	NM_017886.2	725	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS43071.1	2174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTTGAAGA	NONE	.	.	hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000301831	.	21/37	.	.	.	.	.	.	.	.	.	21/37	PASS	ENST00000301831	Transcript	.	.	ENSG00000168038	15784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	ULK4_HUMAN	ULK4	HGNC	B3KSE5_HUMAN	.	UPI0000E8267C	SNV	ULK4,missense_variant,p.Gln725Leu,ENST00000301831,;	2637	108	117	SUCCESS
TOPAZ1	375337	.	GRCh37	3	44332377	44332377	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	34	167	0	ENST00000309765.4:c.3796A>C		p.X1266_splice	ENST00000309765	NM_001145030.1	1266	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46809.1	3796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCGAGGTGA	NONE	.	.	Pfam_domain:PF14669	.	.	ENSP00000310303	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000309765	Transcript	.	.	ENSG00000173769	24746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOPZ1_HUMAN	TOPAZ1	HGNC	.	.	UPI000047FF75	SNV	TOPAZ1,synonymous_variant,p.%3D,ENST00000309765,;	3964	167	163	SUCCESS
KIF15	56992	.	GRCh37	3	44803307	44803307	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	30	117	0	ENST00000326047.4:c.-51G>A		p.*17*	ENST00000326047	NM_020242.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33744.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGGAGGTG	NONE	.	.	.	.	.	ENSP00000324020	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000326047	Transcript	.	.	ENSG00000163808	17273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF15_HUMAN	KIF15	HGNC	D6RCT7_HUMAN	.	UPI000006DB0E	SNV	KIF15,5_prime_UTR_variant,,ENST00000326047,;KIF15,upstream_gene_variant,,ENST00000481166,;KIAA1143,upstream_gene_variant,,ENST00000296121,;KIAA1143,upstream_gene_variant,,ENST00000484437,;KIF15,5_prime_UTR_variant,,ENST00000438321,;	99	117	134	SUCCESS
LZTFL1	54585	.	GRCh37	3	45875746	45875746	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	6	82	0	ENST00000296135.6:c.368C>T	p.Thr123Ile	p.T123I	ENST00000296135	NM_020347.3	123	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2731.1	368	MUTECT|MUSE|VARSCANS	.	AAGATGTAATC	NONE	.	.	hmmpanther:PTHR21635:SF0,hmmpanther:PTHR21635,Pfam_domain:PF15294	.	.	ENSP00000296135	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000296135	Transcript	.	.	ENSG00000163818	6741	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.14)	.	LZTL1_HUMAN	LZTFL1	HGNC	C9J0R9_HUMAN	.	UPI0000073CE2	SNV	LZTFL1,missense_variant,p.Thr106Ile,ENST00000536047,;LZTFL1,missense_variant,p.Thr81Ile,ENST00000440576,;LZTFL1,missense_variant,p.Thr119Ile,ENST00000539217,;LZTFL1,missense_variant,p.Thr123Ile,ENST00000296135,;LZTFL1,downstream_gene_variant,,ENST00000445698,;LZTFL1,non_coding_transcript_exon_variant,,ENST00000490463,;LZTFL1,non_coding_transcript_exon_variant,,ENST00000469874,;LZTFL1,downstream_gene_variant,,ENST00000472635,;LZTFL1,downstream_gene_variant,,ENST00000492333,;LZTFL1,3_prime_UTR_variant,,ENST00000418700,;LZTFL1,3_prime_UTR_variant,,ENST00000411866,;LZTFL1,3_prime_UTR_variant,,ENST00000448111,;LZTFL1,non_coding_transcript_exon_variant,,ENST00000480156,;LZTFL1,non_coding_transcript_exon_variant,,ENST00000495864,;	543	82	75	SUCCESS
CCR3	1232	.	GRCh37	3	46307580	46307580	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	69	0	ENST00000357422.2:c.931T>A	p.Tyr311Asn	p.Y311N	ENST00000357422		311	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS54574.1	994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTACCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF13,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657	.	.	ENSP00000441600	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000545097	Transcript	.	.	ENSG00000183625	1604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0.02)	.	CCR3_HUMAN	CCR3	HGNC	Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN	.	UPI000020A60F	SNV	CCR3,missense_variant,p.Tyr332Asn,ENST00000545097,;CCR3,missense_variant,p.Tyr311Asn,ENST00000395940,;CCR3,missense_variant,p.Tyr311Asn,ENST00000395942,;CCR3,missense_variant,p.Tyr311Asn,ENST00000357422,;CCR3,missense_variant,p.Tyr311Asn,ENST00000541018,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000484025,;CCR3,downstream_gene_variant,,ENST00000475150,;	1169	69	62	SUCCESS
NBEAL2	23218	.	GRCh37	3	47037866	47037866	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780140037	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	13	96	0	ENST00000450053.3:c.2257G>A	p.Ala753Thr	p.A753T	ENST00000450053	NM_015175.2	753	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46817.1	2257	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGCCCTC	NONE	byFrequency	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743,Pfam_domain:PF13385	.	.	ENSP00000415034	.	16/54	.	.	.	.	.	.	.	.	CD116026,rs780140037	16/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,0	.	.	benign(0.005)	.	tolerated(0.52)	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Ala753Thr,ENST00000450053,;NBEAL2,missense_variant,p.Ala225Thr,ENST00000416683,;NBEAL2,missense_variant,p.Ala753Thr,ENST00000292309,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	2436	97	82	SUCCESS
SLMAP	7871	.	GRCh37	3	57882869	57882869	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	114	0	ENST00000428312.1:c.1450+210A>G		p.*484*	ENST00000428312				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33774.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTACGAGG	NONE	.	.	.	.	.	ENSP00000295951	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295951	Transcript	.	.	ENSG00000163681	16643	.	.	MODIFIER	15/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,3_prime_UTR_variant,,ENST00000383718,;SLMAP,intron_variant,,ENST00000494088,;SLMAP,intron_variant,,ENST00000449503,;SLMAP,intron_variant,,ENST00000461354,;SLMAP,intron_variant,,ENST00000495364,;SLMAP,intron_variant,,ENST00000416658,;SLMAP,intron_variant,,ENST00000417128,;SLMAP,intron_variant,,ENST00000428312,;SLMAP,intron_variant,,ENST00000438794,;SLMAP,intron_variant,,ENST00000442599,;SLMAP,intron_variant,,ENST00000416870,;SLMAP,intron_variant,,ENST00000466255,;SLMAP,intron_variant,,ENST00000295951,;SLMAP,intron_variant,,ENST00000295952,;SLMAP,downstream_gene_variant,,ENST00000465203,;SLMAP,intron_variant,,ENST00000472546,;SLMAP,downstream_gene_variant,,ENST00000475055,;SLMAP,intron_variant,,ENST00000459654,;	.	114	65	SUCCESS
GBE1	2632	.	GRCh37	3	81630426	81630426	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	72	0	ENST00000429644.2:c.1336C>T		p.X446_splice	ENST00000429644	NM_000158.3	446	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54612.1	1336	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGCTAGA	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF110,Gene3D:3.20.20.80,PIRSF_domain:PIRSF000463,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000410833	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000429644	Transcript	.	.	ENSG00000114480	4180	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLGB_HUMAN	GBE1	HGNC	.	.	UPI0000209A24	SNV	GBE1,synonymous_variant,p.%3D,ENST00000489715,;GBE1,synonymous_variant,p.%3D,ENST00000429644,;GBE1,upstream_gene_variant,,ENST00000484687,;	1980	72	77	SUCCESS
EPHA3	2042	.	GRCh37	3	89528604	89528604	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	271	11	268	0	ENST00000336596.2:c.2904C>T	p.Ser968=	p.S968=	ENST00000336596	NM_005233.5	968	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2922.1	2904	MUTECT|MUSE	.	AGTAGCATTAA	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF07647,Gene3D:1.10.150.50,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000337451	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,synonymous_variant,p.%3D,ENST00000336596,;EPHA3,3_prime_UTR_variant,,ENST00000494014,;	3129	268	282	SUCCESS
ANKRD50	57182	.	GRCh37	4	125631232	125631232	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	41	0	ENST00000504087.1:c.435C>G	p.Asp145Glu	p.D145E	ENST00000504087	NM_020337.2	145	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS34060.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGTCCTC	NONE	.	.	hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151	.	.	ENSP00000425658	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000504087	Transcript	.	.	ENSG00000151458	29223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ANR50_HUMAN	ANKRD50	HGNC	Q8TB46_HUMAN	.	UPI00002377E8	SNV	ANKRD50,missense_variant,p.Asp145Glu,ENST00000504087,;ANKRD50,intron_variant,,ENST00000515641,;	1473	41	62	SUCCESS
N4BP2	55728	.	GRCh37	4	40122641	40122641	+	synonymous_variant	Silent	SNP	G	G	A	rs754202067	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	32	135	0	ENST00000261435.6:c.2910G>A	p.Gly970=	p.G970=	ENST00000261435	NM_018177.4	970	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3457.1	2910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGCAACA	NONE	.	.	hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	.	.	ENSP00000261435	.	9/18	.	.	.	.	.	.	.	.	rs754202067	9/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,synonymous_variant,p.%3D,ENST00000513269,;N4BP2,synonymous_variant,p.%3D,ENST00000261435,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	3326	135	140	SUCCESS
AMTN	401138	.	GRCh37	4	71394915	71394915	+	synonymous_variant	Silent	SNP	C	C	T	rs201692110	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	386	43	530	0	ENST00000339336.4:c.345C>T	p.Ser115=	p.S115=	ENST00000339336	NM_212557.2	115	agC/agT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS3542.1	345	RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGCTCAGA	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000341013	T:0.001	7/9	.	.	.	.	.	.	.	.	rs201692110	7/9	PASS	ENST00000339336	Transcript	.	T:0.0002	ENSG00000187689	33188	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	AMTN_HUMAN	AMTN	HGNC	F1T0L8_HUMAN	.	UPI00000389F3	SNV	AMTN,synonymous_variant,p.%3D,ENST00000504451,;AMTN,synonymous_variant,p.%3D,ENST00000339336,;	475	530	429	SUCCESS
AFM	173	.	GRCh37	4	74357714	74357714	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	287	87	439	0	ENST00000226355.3:c.969A>G	p.Pro323=	p.P323=	ENST00000226355	NM_001133.2	323	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3557.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCAAAGGA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF13,hmmpanther:PTHR11385,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00803	.	.	ENSP00000226355	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000226355	Transcript	.	.	ENSG00000079557	316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAM_HUMAN	AFM	HGNC	.	.	UPI000012565D	SNV	AFM,synonymous_variant,p.%3D,ENST00000226355,;AFM,upstream_gene_variant,,ENST00000505794,;	1062	439	374	SUCCESS
PTPN13	5783	.	GRCh37	4	87556471	87556471	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	118	0	ENST00000411767.2:c.62T>C	p.Ile21Thr	p.I21T	ENST00000411767		21	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47093.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATATGGG	NONE	.	.	PROSITE_profiles:PS51377,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933,SMART_domains:SM00750	.	.	ENSP00000394794	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	deleterious(0)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Ile21Thr,ENST00000411767,;PTPN13,missense_variant,p.Ile21Thr,ENST00000436978,;PTPN13,missense_variant,p.Ile21Thr,ENST00000316707,;PTPN13,missense_variant,p.Ile21Thr,ENST00000511467,;PTPN13,missense_variant,p.Ile21Thr,ENST00000502971,;PTPN13,missense_variant,p.Ile21Thr,ENST00000507902,;PTPN13,missense_variant,p.Ile21Thr,ENST00000427191,;	542	118	87	SUCCESS
DSPP	1834	.	GRCh37	4	88536871	88536871	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	27	186	1	ENST00000282478.7:c.3057T>C	p.Ser1019=	p.S1019=	ENST00000282478		1019	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43248.1	3057	RADIA|MUTECT|MUSE	.	AGTAGTGACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093	.	.	ENSP00000382213	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,synonymous_variant,p.%3D,ENST00000282478,;DSPP,synonymous_variant,p.%3D,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	3177	187	104	SUCCESS
PKD2	5311	.	GRCh37	4	88996722	88996722	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775862154	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	131	0	ENST00000237596.2:c.2783G>T	p.Gly928Val	p.G928V	ENST00000237596	NM_000297.3	928	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3627.1	2783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGTTTAG	NONE	byFrequency	.	.	.	.	ENSP00000237596	.	15/15	.	.	.	.	.	.	.	.	rs775862154	15/15	PASS	ENST00000237596	Transcript	1	.	ENSG00000118762	9009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated(0.6)	.	PKD2_HUMAN	PKD2	HGNC	Q9UEU6_HUMAN,B7Z2D4_HUMAN,B4DFN3_HUMAN,B4DE45_HUMAN	.	UPI000013CA1D	SNV	PKD2,missense_variant,p.Gly928Val,ENST00000237596,;PKD2,missense_variant,p.Gly346Val,ENST00000502363,;PKD2,missense_variant,p.Gly346Val,ENST00000508588,;PKD2,non_coding_transcript_exon_variant,,ENST00000511337,;PKD2,non_coding_transcript_exon_variant,,ENST00000512858,;	2849	131	95	SUCCESS
IGIP	492311	.	GRCh37	5	139506953	139506954	+	5_prime_UTR_variant	5'UTR	DEL	GT	GT	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	111	19	123	0	ENST00000333305.3:c.-1106_-1105del		p.*369*	ENST00000333305	NM_001007189.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34244.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGAGGTGTGAG	NONE	.	.	.	.	.	ENSP00000327344	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333305	Transcript	.	.	ENSG00000182700	33847	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGIP_HUMAN	IGIP	HGNC	.	.	UPI000046D390	deletion	IGIP,5_prime_UTR_variant,,ENST00000333305,;	1433-1434	123	130	SUCCESS
FAT2	2196	.	GRCh37	5	150921988	150921988	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	28	95	0	ENST00000261800.5:c.8700T>C	p.Asn2900=	p.N2900=	ENST00000261800	NM_001447.2	2900	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS4317.1	8700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCATTCTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	8713	96	135	SUCCESS
LARP1	23367	.	GRCh37	5	154172335	154172335	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	95	0	ENST00000336314.4:c.487C>T	p.Arg163Ter	p.R163*	ENST00000336314	NM_015315.4	163	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS4328.1	487	MUTECT|MUSE|VARSCANS	.	GCCAGCGAGGC	NONE	.	.	hmmpanther:PTHR22792:SF51,hmmpanther:PTHR22792	.	.	ENSP00000336721	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000336314	Transcript	.	.	ENSG00000155506	29531	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LARP1_HUMAN	LARP1	HGNC	E5RHK4_HUMAN,E5RH50_HUMAN	.	UPI00001DFE1B	SNV	LARP1,stop_gained,p.Arg35Ter,ENST00000524248,;LARP1,stop_gained,p.Arg240Ter,ENST00000518297,;LARP1,stop_gained,p.Arg163Ter,ENST00000336314,;LARP1,stop_gained,p.Arg35Ter,ENST00000519931,;LARP1,stop_gained,p.Arg143Ter,ENST00000517616,;LARP1,stop_gained,p.Arg2Ter,ENST00000518194,;LARP1,stop_gained,p.Arg15Ter,ENST00000523163,;LARP1,upstream_gene_variant,,ENST00000518742,;LARP1,3_prime_UTR_variant,,ENST00000521577,;LARP1,upstream_gene_variant,,ENST00000518595,;	511	95	103	SUCCESS
CDH9	1007	.	GRCh37	5	26902785	26902785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	100	0	ENST00000231021.4:c.1053C>A	p.Asn351Lys	p.N351K	ENST00000231021	NM_016279.3	351	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS3893.1	1053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGTTACT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Asn351Lys,ENST00000231021,;CDH9,downstream_gene_variant,,ENST00000505045,;	1226	101	87	SUCCESS
CDH9	1007	.	GRCh37	5	26902786	26902786	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	16	100	0	ENST00000231021.4:c.1052A>C	p.Asn351Thr	p.N351T	ENST00000231021	NM_016279.3	351	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS3893.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGTTACTT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	7/12	.	.	.	.	.	.	.	.	COSM1247891	7/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Asn351Thr,ENST00000231021,;CDH9,downstream_gene_variant,,ENST00000505045,;	1225	100	86	SUCCESS
NUP155	9631	.	GRCh37	5	37352900	37352900	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	23	145	0	ENST00000231498.3:c.495G>T	p.Leu165=	p.L165=	ENST00000231498	NM_153485.2	165	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3921.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCAGGAG	NONE	.	.	Pfam_domain:PF08801,hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350	.	.	ENSP00000231498	.	5/35	.	.	.	.	.	.	.	.	.	5/35	PASS	ENST00000231498	Transcript	1	.	ENSG00000113569	8063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU155_HUMAN	NUP155	HGNC	B4DLT2_HUMAN,B3KMK3_HUMAN	.	UPI0000001C7F	SNV	NUP155,synonymous_variant,p.%3D,ENST00000513532,;NUP155,synonymous_variant,p.%3D,ENST00000381843,;NUP155,synonymous_variant,p.%3D,ENST00000231498,;NUP155,upstream_gene_variant,,ENST00000507233,;	699	145	147	SUCCESS
PELO	53918	.	GRCh37	5	52097577	52097577	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	15	96	0	ENST00000274311.2:c.1062del	p.Glu354AspfsTer6	p.E354Dfs*6	ENST00000274311	NM_015946.4	354	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS3956.1	1061	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGGAACAGC	NONE	.	.	hmmpanther:PTHR10853,TIGRFAM_domain:TIGR00111,Gene3D:3.30.1330.30,Pfam_domain:PF03465,Superfamily_domains:SSF55315	.	.	ENSP00000274311	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000274311	Transcript	.	.	ENSG00000152684	8829	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PELO_HUMAN	PELO	HGNC	.	.	UPI000013D9FE	deletion	PELO,frameshift_variant,p.Glu354AspfsTer6,ENST00000274311,;ITGA1,intron_variant,,ENST00000282588,;PELO,non_coding_transcript_exon_variant,,ENST00000506949,;ITGA1,intron_variant,,ENST00000504086,;	2046	96	131	SUCCESS
SKIV2L2	0	.	GRCh37	5	54649070	54649070	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	85	0	ENST00000230640.5:c.1506C>G	p.Arg502=	p.R502=	ENST00000230640	NM_015360.4	502	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3967.1	1506	MUTECT|MUSE	.	GCCCGCAAATT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Pfam_domain:PF00271,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005198,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000230640	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,synonymous_variant,p.%3D,ENST00000545714,;SKIV2L2,synonymous_variant,p.%3D,ENST00000230640,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;RP11-506H20.2,downstream_gene_variant,,ENST00000605749,;	1760	85	86	SUCCESS
CCNB1	891	.	GRCh37	5	68470853	68470853	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	20	128	0	ENST00000256442.5:c.855G>A	p.Met285Ile	p.M285I	ENST00000256442	NM_031966.3	285	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3997.1	855	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATGGAAAT	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF193,Pfam_domain:PF00134,Gene3D:1.10.472.10,SMART_domains:SM00385,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954	.	.	ENSP00000256442	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000256442	Transcript	.	.	ENSG00000134057	1579	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.19)	.	deleterious(0.03)	.	CCNB1_HUMAN	CCNB1	HGNC	Q9BPX9_HUMAN	.	UPI00001275A9	SNV	CCNB1,missense_variant,p.Met101Ile,ENST00000507798,;CCNB1,missense_variant,p.Met285Ile,ENST00000505500,;CCNB1,missense_variant,p.Met285Ile,ENST00000256442,;CCNB1,missense_variant,p.Met285Ile,ENST00000506572,;CCNB1,missense_variant,p.Met232Ile,ENST00000508407,;snoU13,downstream_gene_variant,,ENST00000459230,;CCNB1,upstream_gene_variant,,ENST00000513102,;CCNB1,downstream_gene_variant,,ENST00000503507,;	1108	128	164	SUCCESS
EDIL3	10085	.	GRCh37	5	83239361	83239361	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	18	111	0	ENST00000296591.5:c.1320C>T	p.Asp440=	p.D440=	ENST00000296591	NM_005711.4	440	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS4062.1	1320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGTCATT	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Pfam_domain:PF00754,Gene3D:2.60.120.260,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50022	.	.	ENSP00000296591	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,synonymous_variant,p.%3D,ENST00000296591,;EDIL3,synonymous_variant,p.%3D,ENST00000380138,;	1739	111	109	SUCCESS
RSPO3	84870	.	GRCh37	6	127440418	127440418	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	13	117	0	ENST00000356698.4:c.81A>T	p.Gly27=	p.G27=	ENST00000356698	NM_032784.4	27	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5135.1	81	MUTECT|MUSE|VARSCANS	.	CGGGGAAGGCG	NONE	.	.	hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF35	.	.	ENSP00000349131	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000356698	Transcript	.	.	ENSG00000146374	20866	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RSPO3_HUMAN	RSPO3	HGNC	.	.	UPI0000043CB8	SNV	RSPO3,synonymous_variant,p.%3D,ENST00000368317,;RSPO3,synonymous_variant,p.%3D,ENST00000356698,;RSPO3,upstream_gene_variant,,ENST00000485757,;	670	117	141	SUCCESS
KIAA0408	9729	.	GRCh37	6	127765360	127765360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150329243	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	24	99	0	ENST00000483725.3:c.1979G>A	p.Arg660His	p.R660H	ENST00000483725	NM_014702.4	660	cGt/cAt	0	T:0	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS34531.1	1979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACGACGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15705	T:0	T:0.0002	ENSP00000435150	T:0	6/6	.	.	.	.	.	.	.	.	rs150329243	6/6	common_in_exac	ENST00000483725	Transcript	.	T:0.0030	ENSG00000189367	21636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	T:0.0153	deleterious(0)	.	K0408_HUMAN	KIAA0408	HGNC	.	.	UPI00001C0BD7	SNV	KIAA0408,missense_variant,p.Arg660His,ENST00000483725,;KIAA0408,3_prime_UTR_variant,,ENST00000465254,;SOGA3,3_prime_UTR_variant,,ENST00000556132,;KIAA0408,downstream_gene_variant,,ENST00000487331,;SOGA3,3_prime_UTR_variant,,ENST00000473298,;SOGA3,3_prime_UTR_variant,,ENST00000481848,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000368281,;	2316	99	126	SUCCESS
TXLNB	167838	.	GRCh37	6	139609802	139609802	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	42	122	0	ENST00000358430.3:c.235A>T	p.Lys79Ter	p.K79*	ENST00000358430	NM_153235.3	79	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS34545.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTTCCCTG	NONE	.	.	hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10	.	.	ENSP00000351206	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000358430	Transcript	.	.	ENSG00000164440	21617	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXLNB_HUMAN	TXLNB	HGNC	H0UI60_HUMAN	.	UPI0000072983	SNV	TXLNB,stop_gained,p.Lys79Ter,ENST00000358430,;RP11-445F6.2,downstream_gene_variant,,ENST00000441249,;RP11-445F6.2,downstream_gene_variant,,ENST00000440518,;	468	122	119	SUCCESS
TBP	6908	.	GRCh37	6	170878809	170878809	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	67	0	ENST00000230354.6:c.787G>T	p.Asp263Tyr	p.D263Y	ENST00000230354		263	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS5315.1	787	MUTECT|MUSE	.	GCTGTGATGTG	NONE	.	.	Prints_domain:PR00686,Superfamily_domains:SSF55945,Gene3D:3.30.310.10,Pfam_domain:PF00352,hmmpanther:PTHR10126,hmmpanther:PTHR10126:SF15,HAMAP:MF_00408	.	.	ENSP00000375942	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000392092	Transcript	.	.	ENSG00000112592	11588	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBP_HUMAN	TBP	HGNC	Q7Z6S5_HUMAN,Q7Z6S4_HUMAN,Q32MN7_HUMAN,D2CT66_HUMAN,D2CT65_HUMAN,D2CT64_HUMAN,D2CT63_HUMAN,C0LUL1_HUMAN,B4DPC1_HUMAN	.	UPI0000136C3F	SNV	TBP,missense_variant,p.Asp263Tyr,ENST00000392092,;TBP,missense_variant,p.Asp263Tyr,ENST00000230354,;TBP,missense_variant,p.Asp38Tyr,ENST00000446829,;TBP,missense_variant,p.Asp243Tyr,ENST00000540980,;TBP,downstream_gene_variant,,ENST00000421512,;	1066	67	83	SUCCESS
ZSCAN12	9753	.	GRCh37	6	28350309	28350309	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	38	98	0	ENST00000361028.1:c.1772C>G	p.Ser591Cys	p.S591C	ENST00000361028		591	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	.	1772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGAGAGCTC	NONE	.	.	.	.	.	ENSP00000354305	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361028	Transcript	.	.	ENSG00000158691	13172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious_low_confidence(0.01)	.	ZSC12_HUMAN	ZSCAN12	HGNC	.	.	UPI000013C353	SNV	ZSCAN12,missense_variant,p.Ser591Cys,ENST00000396827,;ZSCAN12,missense_variant,p.Ser591Cys,ENST00000361028,;	1918	98	141	SUCCESS
SCAND3	0	.	GRCh37	6	28543068	28543068	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs376727708	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	15	134	1	ENST00000452236.2:c.1414T>A	p.Ser472Thr	p.S472T	ENST00000452236	NM_052923.1	472	Tct/Act	0	T:0	.	.	.	.	T	S/T	protein_coding	YES	CCDS34355.1	1414	MUTECT|MUSE|VARSCANS	.	TGCAGAACTCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50994,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF90,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	T:0.0001	ENSP00000395259	.	3/4	.	.	.	.	.	.	.	.	rs376727708	3/4	PASS	ENST00000452236	Transcript	.	.	ENSG00000232040	13851	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.068)	.	deleterious_low_confidence(0.01)	.	SCND3_HUMAN	SCAND3	HGNC	.	.	UPI00001618B7	SNV	SCAND3,missense_variant,p.Ser472Thr,ENST00000452236,;SCAND3,downstream_gene_variant,,ENST00000530247,;	2032	135	163	SUCCESS
HLA-B	3106	.	GRCh37	6	31323270	31323270	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151341351	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	26	120	0	ENST00000412585.2:c.719C>T	p.Thr240Ile	p.T240I	ENST00000412585	NM_005514.6	240	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34394.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGTCAGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF157,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000399168	.	4/8	.	.	.	.	.	.	.	.	rs151341351	4/8	PASS	ENST00000412585	Transcript	.	.	ENSG00000234745	4932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.02)	.	1B73_HUMAN,1B07_HUMAN,1B42_HUMAN,1B67_HUMAN,1B81_HUMAN,1B48_HUMAN	HLA-B	HGNC	T1R372_HUMAN,R4QQU0_HUMAN,N0A4A9_HUMAN,N0A0K3_HUMAN,M9XMA8_HUMAN,M9PAL2_HUMAN,M9P9U8_HUMAN,M9P9C4_HUMAN,M9P9A4_HUMAN,M9P990_HUMAN,M9P8G8_HUMAN,M1FXF1_HUMAN,M1FWX2_HUMAN,M1F4D0_HUMAN,E5FQ95_HUMAN,Q9UIP1_HUMAN,Q9TQC5_HUMAN,Q9TQC2_HUMAN,Q9TPU4_HUMAN,Q9GIM0_HUMAN,Q95IE1_HUMAN,Q95HL7_HUMAN,Q8SP64_HUMAN,Q8HWQ3_HUMAN,Q861E5_HUMAN,Q861D6_HUMAN,Q861D4_HUMAN,Q7YP17_HUMAN,Q7YNX2_HUMAN,Q7JGR7_HUMAN,Q710M8_HUMAN,Q710M7_HUMAN,Q70HJ6_HUMAN,Q709M5_HUMAN,Q6ZXT6_HUMAN,Q5QR88_HUMAN,Q5QR87_HUMAN,Q5QR86_HUMAN,Q5QR85_HUMAN,Q5QR84_HUMAN,Q5QR83_HUMAN,Q5QR76_HUMAN,Q5QR73_HUMAN,Q5QR69_HUMAN,Q5QR62_HUMAN,Q5QR60_HUMAN,Q5QR59_HUMAN,Q5QR58_HUMAN,Q5QR57_HUMAN,Q5QR48_HUMAN,Q5QR47_HUMAN,Q5QR46_HUMAN,Q5QR36_HUMAN,Q5QR34_HUMAN,Q5QR33_HUMAN,Q5QR31_HUMAN,Q5F311_HUMAN,Q53ZP0_HUMAN,Q29923_HUMAN,Q29843_HUMAN,Q256S0_HUMAN,O19782_HUMAN,O19746_HUMAN,O19644_HUMAN,O19638_HUMAN,O19563_HUMAN,L0RH50_HUMAN,L0BXM2_HUMAN,K9LCN4_HUMAN,K9L8E6_HUMAN,K7QT39_HUMAN,K7P5R9_HUMAN,K4JQY2_HUMAN,J9UP90_HUMAN,J9PWQ9_HUMAN,J9PW07_HUMAN,J7K017_HUMAN,J7F682_HUMAN,J7F577_HUMAN,I7A4E3_HUMAN,I6TRW4_HUMAN,I6RCX9_HUMAN,I6NXG0_HUMAN,I6NWI0_HUMAN,I6NVS4_HUMAN,I4EC43_HUMAN,I3VZ13_HUMAN,I3UI65_HUMAN,I3QHR8_HUMAN,I2B2Z4_HUMAN,I2B2W6_HUMAN,H9C5J4_HUMAN,H9BQ86_HUMAN,H9BQ83_HUMAN,H9BQ82_HUMAN,G9I2L1_HUMAN,G3D6I7_HUMAN,G1EPU3_HUMAN,G1EPN0_HUMAN,G1EPJ1_HUMAN,G1ENJ6_HUMAN,G1ENJ0_HUMAN,G1EMP0_HUMAN,G1EMK6_HUMAN,G0ZMJ0_HUMAN,G0ZMH5_HUMAN,G0Z8C9_HUMAN,G0WVB6_HUMAN,F8SKV9_HUMAN,F8RHF3_HUMAN,F6KRS1_HUMAN,F6KRR7_HUMAN,F6KRQ7_HUMAN,F4YU56_HUMAN,F4YTC4_HUMAN,F4NBP2_HUMAN,F4NBP0_HUMAN,F2X5W5_HUMAN,F2X5T3_HUMAN,F2VNN2_HUMAN,E9LY38_HUMAN,E7BYA5_HUMAN,E3SWI1_HUMAN,E3SWH9_HUMAN,E2GJN0_HUMAN,E2DH92_HUMAN,E2D5Q2_HUMAN,E2D5P9_HUMAN,E2D5N8_HUMAN,D9U3G7_HUMAN,D7NSR4_HUMAN,D5L9C9_HUMAN,D5FWA6_HUMAN,D5FI14_HUMAN,D5FHY1_HUMAN,D5FHV8_HUMAN,D5FHU6_HUMAN,D4HPL2_HUMAN,D4HPB9_HUMAN,D4HPB2_HUMAN,D4HP81_HUMAN,D3Y5Y4_HUMAN,D3U4B8_HUMAN,D2DL25_HUMAN,D2DKQ8_HUMAN,D2DKN8_HUMAN,D2DKN6_HUMAN,D2DKF7_HUMAN,D2DKF6_HUMAN,C9WEP9_HUMAN,C9WEN6_HUMAN,C9WD06_HUMAN,C9WCZ5_HUMAN,C9WCQ2_HUMAN,C9E1H2_HUMAN,C8CH80_HUMAN,C8CAX9_HUMAN,C7FDQ9_HUMAN,C6L830_HUMAN,C5JA70_HUMAN,C3VIU8_HUMAN,B9VWB1_HUMAN,B4DUK6_HUMAN,B2YG95_HUMAN,A7E1C3_HUMAN,A5PHP5_HUMAN,A2VC07_HUMAN	.	UPI0000000B17	SNV	HLA-B,missense_variant,p.Thr240Ile,ENST00000412585,;HLA-B,downstream_gene_variant,,ENST00000434333,;HLA-B,non_coding_transcript_exon_variant,,ENST00000463574,;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,;HLA-B,upstream_gene_variant,,ENST00000481849,;HLA-B,upstream_gene_variant,,ENST00000497377,;HLA-B,downstream_gene_variant,,ENST00000474381,;XXbac-BPG248L24.12,upstream_gene_variant,,ENST00000603274,;	748	120	134	SUCCESS
VARS	0	.	GRCh37	6	31747209	31747209	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	83	0	ENST00000375663.3:c.3393G>T	p.Arg1131=	p.R1131=	ENST00000375663	NM_006295.2	1131	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34412.1	3393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCCGGAT	NONE	.	.	Superfamily_domains:SSF47323,TIGRFAM_domain:TIGR00422,Pfam_domain:PF08264,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF54,HAMAP:MF_02004	.	.	ENSP00000364815	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000375663	Transcript	.	.	ENSG00000204394	12651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYVC_HUMAN	VARS	HGNC	A2ABF4_HUMAN	.	UPI00001366EA	SNV	VARS,synonymous_variant,p.%3D,ENST00000375663,;VWA7,upstream_gene_variant,,ENST00000375686,;VWA7,upstream_gene_variant,,ENST00000447450,;VWA7,upstream_gene_variant,,ENST00000375688,;VARS,downstream_gene_variant,,ENST00000428445,;VARS,downstream_gene_variant,,ENST00000444930,;Y_RNA,upstream_gene_variant,,ENST00000364685,;VWA7,upstream_gene_variant,,ENST00000467576,;VARS,upstream_gene_variant,,ENST00000470953,;VARS,downstream_gene_variant,,ENST00000482996,;VARS,downstream_gene_variant,,ENST00000483275,;VWA7,upstream_gene_variant,,ENST00000497645,;VARS,non_coding_transcript_exon_variant,,ENST00000463184,;VARS,downstream_gene_variant,,ENST00000474643,;VARS,downstream_gene_variant,,ENST00000461328,;VARS,downstream_gene_variant,,ENST00000479051,;VARS,downstream_gene_variant,,ENST00000461874,;VARS,downstream_gene_variant,,ENST00000459667,;	3834	83	70	SUCCESS
ITPR3	3710	.	GRCh37	6	33631619	33631619	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs2229630	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	63	0	ENST00000374316.5:c.1110C>G	p.Asp370Glu	p.D370E	ENST00000374316		370	gaC/gaG	0	T:0.0068	T:0.0098	.	T:0	.	G	D/E	protein_coding	YES	CCDS4783.1	1110	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACCCCAC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	PROSITE_profiles:PS50919,hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715,Gene3D:2.80.10.50,Pfam_domain:PF02815,SMART_domains:SM00472,Superfamily_domains:SSF82109	T:0	T:0	ENSP00000363435	T:0	12/59	.	.	.	.	.	.	.	.	rs2229630	12/59	PASS	ENST00000374316	Transcript	.	T:0.0026	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	T:0	tolerated(0.07)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Asp370Glu,ENST00000374316,;ITPR3,missense_variant,p.Asp370Glu,ENST00000605930,;	2170	63	88	SUCCESS
MOCS1	4337	.	GRCh37	6	39881105	39881105	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778501170	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	23	105	0	ENST00000340692.5:c.713G>A	p.Gly238Asp	p.G238D	ENST00000340692		238	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS4846.1	713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCCCTCA	NONE	.	.	HAMAP:MF_01225_B,hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960,TIGRFAM_domain:TIGR02666,Gene3D:3.20.20.70,SMART_domains:SM00729,Superfamily_domains:SSF102114	.	.	ENSP00000362282	.	5/10	.	.	.	.	.	.	.	.	rs778501170	5/10	PASS	ENST00000373186	Transcript	.	.	ENSG00000124615	7190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	MOCS1_HUMAN	MOCS1	HGNC	Q9NP27_HUMAN	.	UPI000006FA21	SNV	MOCS1,missense_variant,p.Gly238Asp,ENST00000425303,;MOCS1,missense_variant,p.Gly238Asp,ENST00000373188,;MOCS1,missense_variant,p.Gly151Asp,ENST00000373195,;MOCS1,missense_variant,p.Gly209Asp,ENST00000373175,;MOCS1,missense_variant,p.Gly238Asp,ENST00000340692,;MOCS1,missense_variant,p.Gly238Asp,ENST00000308559,;MOCS1,missense_variant,p.Gly238Asp,ENST00000373186,;MOCS1,missense_variant,p.Gly209Asp,ENST00000432280,;MOCS1,missense_variant,p.Gly151Asp,ENST00000373181,;MOCS1,downstream_gene_variant,,ENST00000473742,;	851	105	110	SUCCESS
KCNQ5	56479	.	GRCh37	6	73787165	73787165	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	6	78	0	ENST00000370398.1:c.737A>G	p.Asp246Gly	p.D246G	ENST00000370398	NM_019842.3	246	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS55034.1	737	MUTECT|MUSE	.	CATGGACCGAA	BUFFER|p.R244C|c.730C>T|3,BUFFER|p.R244H|c.731G>A|4	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF128,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000345055	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000342056	Transcript	.	.	ENSG00000185760	6299	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	KCNQ5	HGNC	A6PVT6_HUMAN	.	UPI000155D644	SNV	KCNQ5,missense_variant,p.Asp246Gly,ENST00000370392,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000402622,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000370398,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000414165,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000403813,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000342056,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000355194,;KCNQ5,missense_variant,p.Asp246Gly,ENST00000355635,;	1135	78	97	SUCCESS
SENP6	26054	.	GRCh37	6	76423528	76423528	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	68	172	0	ENST00000447266.2:c.3116A>G	p.Glu1039Gly	p.E1039G	ENST00000447266	NM_015571.2	1039	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47454.1	3116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGAGAGCT	NONE	.	.	PROSITE_profiles:PS50600,hmmpanther:PTHR12438:SF14,hmmpanther:PTHR12438,Pfam_domain:PF02902,Superfamily_domains:SSF54001	.	.	ENSP00000402527	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000447266	Transcript	.	.	ENSG00000112701	20944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	SENP6_HUMAN	SENP6	HGNC	H0Y4F4_HUMAN	.	UPI0000141B65	SNV	SENP6,missense_variant,p.Glu1032Gly,ENST00000370010,;SENP6,missense_variant,p.Glu1039Gly,ENST00000370014,;SENP6,missense_variant,p.Glu1039Gly,ENST00000447266,;SENP6,3_prime_UTR_variant,,ENST00000541192,;SENP6,3_prime_UTR_variant,,ENST00000503501,;	3594	172	215	SUCCESS
HMGN3-AS1	100288198	.	GRCh37	6	79944051	79944051	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	16	0	ENST00000604516.1:n.483A>G		p.*161*	ENST00000604516				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4988.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAAAGTA	NONE	.	.	.	.	.	ENSP00000341267	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344726	Transcript	.	.	ENSG00000118418	12312	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMGN3_HUMAN	HMGN3	HGNC	.	.	UPI000012CA50	SNV	HMGN3,intron_variant,,ENST00000275036,;HMGN3,intron_variant,,ENST00000344726,;HMGN3-AS1,non_coding_transcript_exon_variant,,ENST00000604516,;	.	16	14	SUCCESS
KIAA1009	0	.	GRCh37	6	84884544	84884544	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs149892489	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	86	0	ENST00000403245.3:c.1927A>C	p.Lys643Gln	p.K643Q	ENST00000403245	NM_014895.2	643	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS34494.2	1927	SOMATICSNIPER|VARSCANS	.	CTCCTTTTCTG	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Gene3D:1f5nA01	.	.	ENSP00000385215	.	15/27	.	.	.	.	.	.	.	.	rs149892489	15/27	PASS	ENST00000403245	Transcript	.	.	ENSG00000135315	21107	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CE162_HUMAN	KIAA1009	HGNC	B3KN48_HUMAN	.	UPI0001533DAA	SNV	KIAA1009,missense_variant,p.Lys643Gln,ENST00000403245,;KIAA1009,missense_variant,p.Lys567Gln,ENST00000257766,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000497936,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000461137,;	2042	86	108	SUCCESS
ACHE	43	.	GRCh37	7	100490028	100490028	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	20	117	0	ENST00000241069.5:c.1480C>T	p.Arg494Ter	p.R494*	ENST00000241069	NM_000665.3	494	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5710.1	1480	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGAGAGG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF171,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000303211	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000302913	Transcript	.	.	ENSG00000087085	108	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACES_HUMAN	ACHE	HGNC	C9JUK5_HUMAN,C9JD78_HUMAN	.	UPI0000140DF0	SNV	ACHE,stop_gained,p.Arg494Ter,ENST00000241069,;ACHE,stop_gained,p.Arg406Ter,ENST00000419336,;ACHE,stop_gained,p.Arg494Ter,ENST00000428317,;ACHE,stop_gained,p.Arg494Ter,ENST00000411582,;ACHE,stop_gained,p.Arg494Ter,ENST00000412389,;ACHE,stop_gained,p.Arg494Ter,ENST00000302913,;ACHE,intron_variant,,ENST00000426415,;ACHE,intron_variant,,ENST00000430554,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000388793,;SRRT,downstream_gene_variant,,ENST00000457580,;SRRT,downstream_gene_variant,,ENST00000347433,;SRRT,downstream_gene_variant,,ENST00000432932,;UFSP1,upstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,downstream_gene_variant,,ENST00000497647,;ACHE,3_prime_UTR_variant,,ENST00000442452,;ACHE,intron_variant,,ENST00000454485,;ACHE,intron_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000469602,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000477529,;	1619	117	152	SUCCESS
KMT2E	55904	.	GRCh37	7	104730539	104730539	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	331	175	406	0	ENST00000257745.4:c.1442T>C	p.Ile481Thr	p.I481T	ENST00000257745	NM_018682.3	481	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34723.1	1442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATCAATA	NONE	.	.	hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	deleterious(0.01)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Ile481Thr,ENST00000257745,;KMT2E,missense_variant,p.Ile481Thr,ENST00000476671,;KMT2E,missense_variant,p.Ile481Thr,ENST00000311117,;KMT2E,missense_variant,p.Ile339Thr,ENST00000478990,;KMT2E,missense_variant,p.Ile481Thr,ENST00000334877,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,missense_variant,p.Ile481Thr,ENST00000334884,;KMT2E,3_prime_UTR_variant,,ENST00000482560,;	1987	406	507	SUCCESS
IFRD1	3475	.	GRCh37	7	112102091	112102091	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	34	100	0	ENST00000005558.4:c.654C>T	p.Ile218=	p.I218=	ENST00000005558	NM_001007245.2	218	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS34736.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATCTTCAC	NONE	.	.	hmmpanther:PTHR12354:SF6,hmmpanther:PTHR12354,Pfam_domain:PF05004,Superfamily_domains:SSF48371	.	.	ENSP00000384477	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000403825	Transcript	.	.	ENSG00000006652	5456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFRD1_HUMAN	IFRD1	HGNC	A4D0U1_HUMAN,Q75MS4_HUMAN,Q75M99_HUMAN,Q75M98_HUMAN,E9PMY4_HUMAN,C9JNM6_HUMAN,C9JLG5_HUMAN,C9JFH1_HUMAN,C9J7U6_HUMAN,C9J311_HUMAN,B7Z4L0_HUMAN	.	UPI00000304DC	SNV	IFRD1,synonymous_variant,p.%3D,ENST00000535603,;IFRD1,synonymous_variant,p.%3D,ENST00000403825,;IFRD1,synonymous_variant,p.%3D,ENST00000005558,;IFRD1,5_prime_UTR_variant,,ENST00000421296,;IFRD1,downstream_gene_variant,,ENST00000429071,;IFRD1,downstream_gene_variant,,ENST00000440625,;IFRD1,downstream_gene_variant,,ENST00000476927,;IFRD1,non_coding_transcript_exon_variant,,ENST00000466459,;IFRD1,non_coding_transcript_exon_variant,,ENST00000486688,;	915	100	149	SUCCESS
KIAA1549	57670	.	GRCh37	7	138601674	138601674	+	synonymous_variant	Silent	SNP	G	G	A	rs1164435882	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	73	0	ENST00000422774.1:c.2698C>T	p.Leu900=	p.L900=	ENST00000422774		900	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS56513.1	2698	RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGGGTGG	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	.	.	ENSP00000416040	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,synonymous_variant,p.%3D,ENST00000422774,;KIAA1549,synonymous_variant,p.%3D,ENST00000242365,;KIAA1549,synonymous_variant,p.%3D,ENST00000440172,;	2747	73	93	SUCCESS
MICALL2	79778	.	GRCh37	7	1484651	1484651	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375853882	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	58	0	ENST00000297508.7:c.1055C>T	p.Ala352Val	p.A352V	ENST00000297508	NM_182924.3	352	gCc/gTc	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS5324.1	1055	MUTECT|MUSE|VARSCANS	.	ACGGGGCAGCT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25069:SF96,hmmpanther:PTHR25069	.	A:0	ENSP00000297508	.	6/17	.	.	.	.	.	.	.	.	rs375853882	6/17	PASS	ENST00000297508	Transcript	.	.	ENSG00000164877	29672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.063)	.	deleterious(0.04)	.	MILK2_HUMAN	MICALL2	HGNC	.	.	UPI00000742E0	SNV	MICALL2,missense_variant,p.Ala352Val,ENST00000297508,;MICALL2,missense_variant,p.Ala140Val,ENST00000405088,;MICALL2,missense_variant,p.Ala310Val,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,upstream_gene_variant,,ENST00000467394,;MICALL2,downstream_gene_variant,,ENST00000490608,;MICALL2,upstream_gene_variant,,ENST00000487156,;MICALL2,upstream_gene_variant,,ENST00000467783,;MICALL2,downstream_gene_variant,,ENST00000482839,;	1231	58	65	SUCCESS
VWC2	375567	.	GRCh37	7	49815606	49815606	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	40	0	ENST00000340652.4:c.575G>A	p.Cys192Tyr	p.C192Y	ENST00000340652	NM_198570.3	192	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS5508.1	575	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTGCCCGA	NONE	.	.	hmmpanther:PTHR11339:SF258,hmmpanther:PTHR11339,SMART_domains:SM00214	.	.	ENSP00000341819	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000340652	Transcript	.	.	ENSG00000188730	30200	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	VWC2_HUMAN	VWC2	HGNC	.	.	UPI00002373A5	SNV	VWC2,missense_variant,p.Cys192Tyr,ENST00000340652,;	1131	40	54	SUCCESS
SEMA3E	9723	.	GRCh37	7	83014671	83014671	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs145707650	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	36	148	0	ENST00000307792.3:c.1814G>T	p.Arg605Leu	p.R605L	ENST00000307792	NM_012431.2	605	cGa/cTa	0	A:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS34674.1	1814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATCGTGGG	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Gene3D:2.60.40.10,Pfam_domain:PF00047,Superfamily_domains:SSF48726	.	A:0.0001	ENSP00000303212	.	16/17	.	.	.	.	.	.	.	.	rs145707650	16/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Arg545Leu,ENST00000427262,;SEMA3E,missense_variant,p.Arg605Leu,ENST00000307792,;	2282	148	187	SUCCESS
ASNS	440	.	GRCh37	7	97498472	97498472	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1323070268	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	17	126	0	ENST00000175506.4:c.-4C>T		p.*2*	ENST00000175506	NM_183356.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5652.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGCAATG	NONE	.	.	.	.	.	ENSP00000175506	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000175506	Transcript	.	.	ENSG00000070669	753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASNS_HUMAN	ASNS	HGNC	C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN	.	UPI0000169F55	SNV	ASNS,5_prime_UTR_variant,,ENST00000448127,;ASNS,5_prime_UTR_variant,,ENST00000394309,;ASNS,5_prime_UTR_variant,,ENST00000414884,;ASNS,5_prime_UTR_variant,,ENST00000442734,;ASNS,5_prime_UTR_variant,,ENST00000175506,;ASNS,5_prime_UTR_variant,,ENST00000437657,;ASNS,5_prime_UTR_variant,,ENST00000394308,;ASNS,5_prime_UTR_variant,,ENST00000451771,;ASNS,intron_variant,,ENST00000437628,;ASNS,intron_variant,,ENST00000455086,;ASNS,intron_variant,,ENST00000453600,;ASNS,intron_variant,,ENST00000444334,;ASNS,intron_variant,,ENST00000422745,;ASNS,5_prime_UTR_variant,,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000495255,;AC079781.5,upstream_gene_variant,,ENST00000429197,;	526	126	128	SUCCESS
AGO2	27161	.	GRCh37	8	141595331	141595331	+	synonymous_variant	Silent	SNP	G	G	A	rs781495805	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	50	128	0	ENST00000220592.5:c.102C>T	p.Ser34=	p.S34=	ENST00000220592	NM_012154.3	34	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6380.1	102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGAGGT	NONE	byFrequency	.	hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF18,HAMAP:MF_03031	.	.	ENSP00000220592	.	2/19	.	.	.	.	.	.	.	.	rs781495805,COSM3897178	2/19	PASS	ENST00000220592	Transcript	.	.	ENSG00000123908	3263	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AGO2_HUMAN	AGO2	HGNC	E5RJY2_HUMAN	.	UPI0000168652	SNV	AGO2,synonymous_variant,p.%3D,ENST00000519980,;AGO2,synonymous_variant,p.%3D,ENST00000220592,;AGO2,5_prime_UTR_variant,,ENST00000524328,;AGO2,non_coding_transcript_exon_variant,,ENST00000517293,;AGO2,intron_variant,,ENST00000523609,;	215	128	195	SUCCESS
TSNARE1	203062	.	GRCh37	8	143395792	143395792	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	42	76	0	ENST00000524325.1:c.1081G>C	p.Glu361Gln	p.E361Q	ENST00000524325		361	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS6384.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCTGCAA	NONE	.	.	hmmpanther:PTHR19957:SF38,hmmpanther:PTHR19957,Gene3D:1.20.58.70,Pfam_domain:PF14523,SMART_domains:SM00503,Superfamily_domains:SSF47661	.	.	ENSP00000303437	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000307180	Transcript	.	.	ENSG00000171045	26437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	tolerated(0.06)	.	TSNA1_HUMAN	TSNARE1	HGNC	E5RHW3_HUMAN,A0AVG3_HUMAN	.	UPI00001AEE5E	SNV	TSNARE1,missense_variant,p.Glu361Gln,ENST00000524325,;TSNARE1,missense_variant,p.Glu362Gln,ENST00000307180,;TSNARE1,missense_variant,p.Glu361Gln,ENST00000520166,;TSNARE1,missense_variant,p.Glu142Gln,ENST00000519651,;TSNARE1,non_coding_transcript_exon_variant,,ENST00000518928,;	1202	76	94	SUCCESS
LRRC24	441381	.	GRCh37	8	145748697	145748698	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	81	0	ENST00000529415.2:c.703_704del	p.Met235ValfsTer40	p.M235Vfs*40	ENST00000529415		235	ATg/g	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS34969.1	703-704	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACACATGATCT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255	.	.	ENSP00000434849	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000529415	Transcript	.	.	ENSG00000254402	28947	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRC24_HUMAN	LRRC24	HGNC	.	.	UPI0000419443	deletion	LRRC24,frameshift_variant,p.Met235ValfsTer40,ENST00000529415,;LRRC24,frameshift_variant,p.Met232ValfsTer40,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000525766,;C8orf82,downstream_gene_variant,,ENST00000524821,;LRRC14,downstream_gene_variant,,ENST00000530854,;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC14,downstream_gene_variant,,ENST00000529022,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;LRRC14,non_coding_transcript_exon_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	821-822	81	120	SUCCESS
ARHGEF10	9639	.	GRCh37	8	1905384	1905384	+	synonymous_variant	Silent	SNP	G	G	T	rs764451694	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	72	0	ENST00000398564.1:c.4065G>T	p.Leu1355=	p.L1355=	ENST00000398564		1355	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34794.1	3990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGGCGCC	NONE	.	.	hmmpanther:PTHR12877:SF14,hmmpanther:PTHR12877	.	.	ENSP00000340297	.	29/29	.	.	.	.	.	.	.	.	rs764451694	29/29	PASS	ENST00000349830	Transcript	1	.	ENSG00000104728	14103	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGA_HUMAN	ARHGEF10	HGNC	.	.	UPI00005054FE	SNV	ARHGEF10,synonymous_variant,p.%3D,ENST00000522435,;ARHGEF10,synonymous_variant,p.%3D,ENST00000262112,;ARHGEF10,synonymous_variant,p.%3D,ENST00000398564,;ARHGEF10,synonymous_variant,p.%3D,ENST00000349830,;ARHGEF10,synonymous_variant,p.%3D,ENST00000520359,;ARHGEF10,synonymous_variant,p.%3D,ENST00000518288,;ARHGEF10,downstream_gene_variant,,ENST00000523596,;ARHGEF10,downstream_gene_variant,,ENST00000521927,;	4175	72	61	SUCCESS
CSMD1	64478	.	GRCh37	8	3047474	3047474	+	synonymous_variant	Silent	SNP	G	G	A	rs34443453	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	62	0	ENST00000537824.1:c.5358C>T	p.Asn1786=	p.N1786=	ENST00000537824	NM_033225.5	1786	aaC/aaT	0	.	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS55189.1	5358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGTTGGG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	A:0	.	ENSP00000441462	A:0	34/70	.	.	.	.	.	.	.	.	rs34443453,COSM1456586,COSM1456585	34/70	PASS	ENST00000537824	Transcript	.	A:0.0002	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0	.	0,1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	5358	62	48	SUCCESS
PRKDC	5591	.	GRCh37	8	48744454	48744454	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	20	81	0	ENST00000314191.2:c.8183G>T	p.Arg2728Leu	p.R2728L	ENST00000314191	NM_006904.6	2728	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	.	8183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGCGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	61/87	.	.	.	.	.	.	.	.	COSM241257	61/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.661)	.	.	1	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Arg2728Leu,ENST00000338368,;PRKDC,missense_variant,p.Arg2728Leu,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	8240	81	117	SUCCESS
PXDNL	137902	.	GRCh37	8	52321956	52321956	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761678027	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	48	0	ENST00000356297.4:c.2228G>A	p.Gly743Asp	p.G743D	ENST00000356297	NM_144651.4	743	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS47855.1	2228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGCCCCAC	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	rs761678027	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Gly743Asp,ENST00000543296,;PXDNL,missense_variant,p.Gly743Asp,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,missense_variant,p.Gly9Asp,ENST00000522628,;	2329	48	54	SUCCESS
TRPA1	8989	.	GRCh37	8	72936129	72936130	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1181631081	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	358	81	229	0	ENST00000262209.4:c.3068dup	p.Leu1023PhefsTer15	p.L1023Ffs*15	ENST00000262209	NM_007332.2	1023	tta/ttTa	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS34908.1	3068-3069	VARSCANI*|PINDEL	.	CAAAATAAAAA	NONE	.	.	hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5	.	.	ENSP00000262209	.	26/27	.	.	.	.	.	.	.	.	COSM1458121	26/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	insertion	TRPA1,frameshift_variant,p.Leu875PhefsTer15,ENST00000523582,;TRPA1,frameshift_variant,p.Leu1023PhefsTer15,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;TRPA1,upstream_gene_variant,,ENST00000520596,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;	3276-3277	229	439	SUCCESS
ZFHX4	79776	.	GRCh37	8	77618110	77618110	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1402276868	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	47	117	0	ENST00000521891.2:c.1787G>A	p.Ser596Asn	p.S596N	ENST00000521891	NM_024721.4	596	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS47878.2	1787	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAGTACTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Ser596Asn,ENST00000518282,;ZFHX4,missense_variant,p.Ser596Asn,ENST00000455469,;ZFHX4,missense_variant,p.Ser596Asn,ENST00000050961,;ZFHX4,missense_variant,p.Ser596Asn,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	2235	117	157	SUCCESS
RALGPS1	9649	.	GRCh37	9	129973041	129973041	+	intron_variant	Intron	SNP	C	C	A	rs555036312	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	92	0	ENST00000259351.5:c.1248-1369C>A		p.*416*	ENST00000259351	NM_014636.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS35143.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCCGGAGC	NONE	by1000G	.	.	T:0	.	ENSP00000259351	T:0	.	.	.	.	.	.	.	.	.	rs555036312	.	PASS	ENST00000259351	Transcript	.	T:0.0002	ENSG00000136828	16851	.	.	MODIFIER	14/18	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	RGPS1_HUMAN	RALGPS1	HGNC	.	.	UPI000006D3AF	SNV	RALGPS1,synonymous_variant,p.%3D,ENST00000424082,;RALGPS1,synonymous_variant,p.%3D,ENST00000373434,;RALGPS1,synonymous_variant,p.%3D,ENST00000438723,;RALGPS1,intron_variant,,ENST00000259351,;RP13-225O21.2,downstream_gene_variant,,ENST00000453199,;RALGPS1,non_coding_transcript_exon_variant,,ENST00000467325,;RALGPS1,upstream_gene_variant,,ENST00000471643,;	.	92	96	SUCCESS
PRRC2B	84726	.	GRCh37	9	134357810	134357810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	37	172	0	ENST00000357304.4:c.5036C>A	p.Ser1679Tyr	p.S1679Y	ENST00000357304	NM_013318.3	1679	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS48044.1	5036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTCTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	.	.	ENSP00000349856	.	20/31	.	.	.	.	.	.	.	.	.	20/31	PASS	ENST00000357304	Transcript	.	.	ENSG00000130723	28121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,missense_variant,p.Ser412Tyr,ENST00000451855,;PRRC2B,missense_variant,p.Ser985Tyr,ENST00000458550,;PRRC2B,missense_variant,p.Ser1679Tyr,ENST00000357304,;PRRC2B,missense_variant,p.Ser985Tyr,ENST00000405995,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,upstream_gene_variant,,ENST00000320547,;SNORD62A,upstream_gene_variant,,ENST00000428514,;	5091	172	167	SUCCESS
SPATA31D3	389762	.	GRCh37	9	84562733	84562733	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	315	66	471	0	ENST00000334208.4:n.2592G>A		p.*864*	ENST00000334208				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAGCAGAC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000592744,;RP11-383M4.6,intron_variant,,ENST00000585776,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000334208,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000445385,;	.	472	381	SUCCESS
PTPRD	5789	.	GRCh37	9	8733790	8733790	+	synonymous_variant	Silent	SNP	C	C	T	rs1465139583	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	74	0	ENST00000356435.5:c.54G>A	p.Thr18=	p.T18=	ENST00000356435		18	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43786.1	54	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCGTGCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000370593	.	9/43	.	.	.	.	.	.	.	.	.	9/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,synonymous_variant,p.%3D,ENST00000397617,;PTPRD,synonymous_variant,p.%3D,ENST00000486161,;PTPRD,synonymous_variant,p.%3D,ENST00000358503,;PTPRD,synonymous_variant,p.%3D,ENST00000360074,;PTPRD,synonymous_variant,p.%3D,ENST00000481079,;PTPRD,synonymous_variant,p.%3D,ENST00000381196,;PTPRD,synonymous_variant,p.%3D,ENST00000397606,;PTPRD,synonymous_variant,p.%3D,ENST00000356435,;PTPRD,synonymous_variant,p.%3D,ENST00000355233,;PTPRD,synonymous_variant,p.%3D,ENST00000397611,;PTPRD,synonymous_variant,p.%3D,ENST00000540109,;PTPRD,synonymous_variant,p.%3D,ENST00000537002,;PTPRD,synonymous_variant,p.%3D,ENST00000463477,;	598	74	84	SUCCESS
NXF5	55998	.	GRCh37	X	101095572	101095572	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	rs774444304	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	112	321	0	ENST00000263032.1:c.597G>A	p.Ser199=	p.S199=	ENST00000263032		199	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14491.2	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCGACTC	NONE	byFrequency	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF26,PROSITE_profiles:PS51450	.	.	ENSP00000442401	.	10/16	.	.	.	.	.	.	.	.	rs774444304	10/16	PASS	ENST00000537026	Transcript	.	.	ENSG00000126952	8075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXF5_HUMAN	NXF5	HGNC	.	.	UPI0000F059DC	SNV	NXF5,synonymous_variant,p.%3D,ENST00000473265,;NXF5,synonymous_variant,p.%3D,ENST00000361708,;NXF5,synonymous_variant,p.%3D,ENST00000537026,;NXF5,synonymous_variant,p.%3D,ENST00000332614,;NXF5,synonymous_variant,p.%3D,ENST00000361330,;NXF5,synonymous_variant,p.%3D,ENST00000372803,;NXF5,synonymous_variant,p.%3D,ENST00000263032,;NXF5,3_prime_UTR_variant,,ENST00000493509,;	957	321	371	SUCCESS
AMMECR1	9949	.	GRCh37	X	109561082	109561082	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs778887966	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	64	0	ENST00000262844.5:c.218C>G	p.Pro73Arg	p.P73R	ENST00000262844	NM_015365.2	73	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS14551.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGGGGA	NONE	.	.	hmmpanther:PTHR13016:SF2,hmmpanther:PTHR13016	.	.	ENSP00000262844	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000262844	Transcript	.	.	ENSG00000101935	467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated_low_confidence(0.17)	.	AMMR1_HUMAN	AMMECR1	HGNC	.	.	UPI000006E66F	SNV	AMMECR1,missense_variant,p.Pro73Arg,ENST00000262844,;AMMECR1,missense_variant,p.Pro73Arg,ENST00000372059,;AMMECR1,splice_region_variant,,ENST00000372057,;AMMECR1,upstream_gene_variant,,ENST00000473662,;AMMECR1,upstream_gene_variant,,ENST00000496695,;	386	64	77	SUCCESS
ZIC3	7547	.	GRCh37	X	136649430	136649430	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	99	0	ENST00000287538.5:c.580G>T	p.Gly194Cys	p.G194C	ENST00000287538	NM_003413.3	194	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS14663.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGGCCGT	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF25	.	.	ENSP00000287538	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000287538	Transcript	.	.	ENSG00000156925	12874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	ZIC3_HUMAN	ZIC3	HGNC	.	.	UPI000013C3DD	SNV	ZIC3,missense_variant,p.Gly194Cys,ENST00000287538,;ZIC3,missense_variant,p.Gly194Cys,ENST00000370606,;RP1-137H15.2,upstream_gene_variant,,ENST00000442841,;RP1-137H15.2,upstream_gene_variant,,ENST00000456631,;ZIC3,upstream_gene_variant,,ENST00000478471,;	1130	99	111	SUCCESS
VCX	26609	.	GRCh37	X	7811573	7811573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768350961	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	21	176	0	ENST00000381059.3:c.137G>A	p.Arg46His	p.R46H	ENST00000381059	NM_013452.2	46	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14128.1	137	RADIA|MUTECT|VARSCANS	.	AGTTCGTAGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231	.	.	ENSP00000370447	.	3/3	.	.	.	.	.	.	.	.	rs768350961,COSM138147	3/3	PASS	ENST00000381059	Transcript	.	.	ENSG00000182583	12667	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	unknown(0)	.	tolerated(0.12)	0,1	VCX1_HUMAN	VCX	HGNC	.	.	UPI0000138291	SNV	VCX,missense_variant,p.Arg46His,ENST00000341408,;VCX,missense_variant,p.Arg46His,ENST00000381059,;	356	176	155	SUCCESS
SH3PXD2A	9644	.	GRCh37	10	105361743	105361743	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs561681082	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	71	0	ENST00000369774.4:c.3232G>A	p.Val1078Ile	p.V1078I	ENST00000369774		1078	Gtc/Atc	0	.	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS31278.1	3148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGACGTACA	NONE	by1000G	.	hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	T:0.001	.	ENSP00000348215	T:0	14/14	.	.	.	.	.	.	.	.	rs561681082	14/14	PASS	ENST00000355946	Transcript	.	T:0.0002	ENSG00000107957	23664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	T:0	tolerated(0.13)	.	SPD2A_HUMAN	SH3PXD2A	HGNC	.	.	UPI000041B175	SNV	SH3PXD2A,missense_variant,p.Val945Ile,ENST00000540321,;SH3PXD2A,missense_variant,p.Val913Ile,ENST00000538130,;SH3PXD2A,missense_variant,p.Val1005Ile,ENST00000420222,;SH3PXD2A,missense_variant,p.Val1078Ile,ENST00000369774,;SH3PXD2A,missense_variant,p.Val1050Ile,ENST00000355946,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;	3288	71	64	SUCCESS
CCDC147	0	.	GRCh37	10	106163548	106163548	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	82	0	ENST00000369704.3:c.2101G>A	p.Glu701Lys	p.E701K	ENST00000369704	NM_001008723.1	701	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31282.1	2101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGAGGAG	NONE	.	.	hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF26	.	.	ENSP00000358718	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000369704	Transcript	.	.	ENSG00000120051	26676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	tolerated(0.07)	.	CC147_HUMAN	CCDC147	HGNC	B4DK97_HUMAN	.	UPI0000160405	SNV	CCDC147,missense_variant,p.Glu701Lys,ENST00000369704,;snoU13,downstream_gene_variant,,ENST00000458914,;	2235	82	73	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17363172	17363172	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	186	0	ENST00000377602.4:c.902C>T	p.Pro301Leu	p.P301L	ENST00000377602	NM_001004470.1	301	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31158.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGGGATGG	NONE	.	.	hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000366827	.	8/8	.	.	.	.	.	.	.	.	COSM2131939	8/8	PASS	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	SNV	ST8SIA6,missense_variant,p.Pro301Leu,ENST00000377602,;ST8SIA6,intron_variant,,ENST00000440449,;	977	186	119	SUCCESS
MPP7	143098	.	GRCh37	10	28527612	28527612	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	59	0	ENST00000337532.5:c.-79T>C		p.*27*	ENST00000337532	NM_173496.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7158.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAACAGC	NONE	.	.	.	.	.	ENSP00000337907	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000337532	Transcript	.	.	ENSG00000150054	26542	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP7_HUMAN	MPP7	HGNC	.	.	UPI00000558E1	SNV	MPP7,5_prime_UTR_variant,,ENST00000441595,;MPP7,5_prime_UTR_variant,,ENST00000445954,;MPP7,5_prime_UTR_variant,,ENST00000375719,;MPP7,5_prime_UTR_variant,,ENST00000375732,;MPP7,5_prime_UTR_variant,,ENST00000540098,;MPP7,5_prime_UTR_variant,,ENST00000337532,;MPP7,non_coding_transcript_exon_variant,,ENST00000474682,;MPP7,non_coding_transcript_exon_variant,,ENST00000481244,;MPP7,5_prime_UTR_variant,,ENST00000496637,;	199	59	42	SUCCESS
HSD17B7P2	158160	.	GRCh37	10	38654359	38654359	+	splice_region_variant,intron_variant,non_coding_transcript_variant	Splice_Region	SNP	C	C	T	rs769395708	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	86	311	1	ENST00000494540.1:n.529-3C>T		p.X177_splice	ENST00000494540		177		0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCAGATT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769395708	.	PASS	ENST00000494540	Transcript	.	.	ENSG00000099251	28120	.	.	LOW	4/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HSD17B7P2	HGNC	.	.	.	SNV	HSD17B7P2,splice_region_variant,,ENST00000494540,;HSD17B7P2,splice_region_variant,,ENST00000471365,;HSD17B7P2,splice_region_variant,,ENST00000374560,;HSD17B7P2,splice_region_variant,,ENST00000277668,;HSD17B7P2,splice_region_variant,,ENST00000356314,;	.	312	252	SUCCESS
PRKG1	5592	.	GRCh37	10	54042015	54042015	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	154	0	ENST00000373985.1:c.1567C>T	p.His523Tyr	p.H523Y	ENST00000373985	NM_001098512.2	523	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS7244.1	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCATGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF56112	.	.	ENSP00000363092	.	14/18	.	.	.	.	.	.	.	.	COSM140645	14/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.His535Tyr,ENST00000401604,;PRKG1,missense_variant,p.His253Tyr,ENST00000373975,;PRKG1,missense_variant,p.His523Tyr,ENST00000373985,;PRKG1,missense_variant,p.His550Tyr,ENST00000373980,;PRKG1-AS1,intron_variant,,ENST00000452247,;PRKG1-AS1,intron_variant,,ENST00000426785,;	2065	154	102	SUCCESS
DDIT4	54541	.	GRCh37	10	74034129	74034129	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	38	0	ENST00000307365.3:c.155C>G	p.Ser52Trp	p.S52W	ENST00000307365	NM_019058.2	52	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS7315.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCGGACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12478:SF7,hmmpanther:PTHR12478	.	.	ENSP00000307305	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000307365	Transcript	.	.	ENSG00000168209	24944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	DDIT4_HUMAN	DDIT4	HGNC	.	.	UPI000004EC6A	SNV	DDIT4,missense_variant,p.Ser52Trp,ENST00000307365,;RP11-442H21.2,downstream_gene_variant,,ENST00000491934,;DDIT4,non_coding_transcript_exon_variant,,ENST00000471240,;DDIT4,non_coding_transcript_exon_variant,,ENST00000473155,;	356	38	41	SUCCESS
DCUN1D5	84259	.	GRCh37	11	102962506	102962506	+	intron_variant	Intron	SNP	G	G	A	rs770277421	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	51	0	ENST00000260247.5:c.86+10C>T		p.*29*	ENST00000260247	NM_032299.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8325.1	.	MUTECT|MUSE|VARSCANS	.	GGGGGGAGATG	NONE	byFrequency	.	.	.	.	ENSP00000260247	.	.	.	.	.	.	.	.	.	.	rs770277421	.	PASS	ENST00000260247	Transcript	.	.	ENSG00000137692	28409	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCNL5_HUMAN	DCUN1D5	HGNC	B4DP84_HUMAN	.	UPI000006DE72	SNV	DCUN1D5,intron_variant,,ENST00000260247,;DCUN1D5,intron_variant,,ENST00000531543,;DCUN1D5,upstream_gene_variant,,ENST00000527260,;DCUN1D5,non_coding_transcript_exon_variant,,ENST00000529076,;DCUN1D5,synonymous_variant,p.%3D,ENST00000529294,;DCUN1D5,synonymous_variant,p.%3D,ENST00000531571,;DCUN1D5,synonymous_variant,p.%3D,ENST00000529281,;DCUN1D5,intron_variant,,ENST00000525420,;DCUN1D5,intron_variant,,ENST00000527576,;DCUN1D5,intron_variant,,ENST00000527779,;	.	51	39	SUCCESS
MFRP	83552	.	GRCh37	11	119213689	119213689	+	synonymous_variant	Silent	SNP	G	G	T	rs1192613446	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	71	0	ENST00000449574.2:c.1149C>A	p.Pro383=	p.P383=	ENST00000449574		383	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8421.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGGGGGG	CODON|p.H384fs*94|c.1150delC|5	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000450509	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000555262	Transcript	.	.	ENSG00000235718	18121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFRP_HUMAN	MFRP	HGNC	.	.	UPI0000072615	SNV	MFRP,missense_variant,p.Pro308His,ENST00000360167,;MFRP,synonymous_variant,p.%3D,ENST00000449574,;MFRP,synonymous_variant,p.%3D,ENST00000555262,;C1QTNF5,5_prime_UTR_variant,,ENST00000445041,;C1QTNF5,upstream_gene_variant,,ENST00000528368,;C1QTNF5,upstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000529147,;MFRP,synonymous_variant,p.%3D,ENST00000530681,;MFRP,downstream_gene_variant,,ENST00000526059,;	1309	71	46	SUCCESS
BLID	414899	.	GRCh37	11	121986326	121986326	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs375451446	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	103	0	ENST00000560104.1:c.305A>T	p.Asn102Ile	p.N102I	ENST00000560104	NM_001001786.2	102	aAt/aTt	0	C:0	.	.	.	.	A	N/I	protein_coding	YES	CCDS31693.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATTGCAT	BUFFER|p.S104T|c.310T>A|3	.	.	.	.	C:0.0001	ENSP00000453153	.	1/1	.	.	.	.	.	.	.	.	rs375451446	1/1	PASS	ENST00000560104	Transcript	.	.	ENSG00000259571	33495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious_low_confidence(0)	.	BLID_HUMAN	BLID	HGNC	.	.	UPI0000161930	SNV	BLID,missense_variant,p.Asn102Ile,ENST00000560104,;RP11-166D19.1,intron_variant,,ENST00000534297,;	598	103	94	SUCCESS
ESAM	90952	.	GRCh37	11	124626226	124626226	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	53	0	ENST00000278927.5:c.484G>T	p.Gly162Cys	p.G162C	ENST00000278927	NM_138961.2	162	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS8453.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCCTGGA	NONE	.	.	hmmpanther:PTHR12231:SF8,hmmpanther:PTHR12231,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000278927	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000278927	Transcript	.	.	ENSG00000149564	17474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ESAM_HUMAN	ESAM	HGNC	.	.	UPI000003721A	SNV	ESAM,missense_variant,p.Gly35Cys,ENST00000435477,;ESAM,missense_variant,p.Gly162Cys,ENST00000278927,;ESAM,intron_variant,,ENST00000444566,;ESAM,intron_variant,,ENST00000442070,;VSIG2,upstream_gene_variant,,ENST00000403470,;VSIG2,upstream_gene_variant,,ENST00000326621,;RP11-677M14.3,upstream_gene_variant,,ENST00000504932,;ESAM,missense_variant,p.Gly162Cys,ENST00000417453,;ESAM,non_coding_transcript_exon_variant,,ENST00000485116,;ESAM,non_coding_transcript_exon_variant,,ENST00000464067,;	614	53	36	SUCCESS
HEPACAM	220296	.	GRCh37	11	124791274	124791274	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	52	184	1	ENST00000298251.4:c.1011G>A	p.Pro337=	p.P337=	ENST00000298251	NM_152722.4	337	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8456.1	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCGGGCC	NONE	.	.	hmmpanther:PTHR19955:SF104,hmmpanther:PTHR19955	.	.	ENSP00000298251	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000298251	Transcript	.	.	ENSG00000165478	26361	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECAM_HUMAN	HEPACAM	HGNC	.	.	UPI000013E4B5	SNV	HEPACAM,synonymous_variant,p.%3D,ENST00000298251,;HEPN1,downstream_gene_variant,,ENST00000408930,;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	1417	185	131	SUCCESS
MRGPRX4	117196	.	GRCh37	11	18195075	18195075	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	97	0	ENST00000314254.3:c.272G>C	p.Ser91Thr	p.S91T	ENST00000314254	NM_054032.3	91	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS7831.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCAGCCATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000314042	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314254	Transcript	.	.	ENSG00000179817	17617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.39)	.	MRGX4_HUMAN	MRGPRX4	HGNC	.	.	UPI0000061F60	SNV	MRGPRX4,missense_variant,p.Ser91Thr,ENST00000314254,;RP11-113D6.6,intron_variant,,ENST00000527671,;	692	97	85	SUCCESS
ARFGAP2	84364	.	GRCh37	11	47193261	47193261	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138040761	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	42	0	ENST00000524782.1:c.763C>T	p.Arg255Cys	p.R255C	ENST00000524782	NM_032389.4	255	Cgt/Tgt	0	A:0	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS7926.1	763	MUTECT|MUSE	.	CTCACGGAGCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF194	A:0	A:0.0001	ENSP00000434442	A:0	9/16	.	.	.	.	.	.	.	.	rs138040761	9/16	common_in_exac	ENST00000524782	Transcript	.	A:0.0028	ENSG00000149182	13504	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.915)	A:0.0143	deleterious(0.04)	.	ARFG2_HUMAN	ARFGAP2	HGNC	B7Z9M7_HUMAN	.	UPI000006F4C6	SNV	ARFGAP2,missense_variant,p.Arg119Cys,ENST00000527927,;ARFGAP2,missense_variant,p.Arg119Cys,ENST00000426335,;ARFGAP2,missense_variant,p.Arg255Cys,ENST00000524782,;ARFGAP2,missense_variant,p.Arg269Cys,ENST00000525398,;ARFGAP2,missense_variant,p.Arg148Cys,ENST00000419701,;ARFGAP2,5_prime_UTR_variant,,ENST00000319543,;ARFGAP2,intron_variant,,ENST00000526342,;ARFGAP2,downstream_gene_variant,,ENST00000525314,;ARFGAP2,upstream_gene_variant,,ENST00000527776,;ARFGAP2,downstream_gene_variant,,ENST00000530596,;ARFGAP2,downstream_gene_variant,,ENST00000528444,;RP11-390K5.6,upstream_gene_variant,,ENST00000524412,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000395449,;ARFGAP2,downstream_gene_variant,,ENST00000533939,;ARFGAP2,downstream_gene_variant,,ENST00000531750,;ARFGAP2,downstream_gene_variant,,ENST00000529599,;ARFGAP2,3_prime_UTR_variant,,ENST00000529455,;ARFGAP2,3_prime_UTR_variant,,ENST00000533243,;ARFGAP2,3_prime_UTR_variant,,ENST00000532478,;ARFGAP2,3_prime_UTR_variant,,ENST00000532438,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000526948,;ARFGAP2,downstream_gene_variant,,ENST00000527097,;ARFGAP2,downstream_gene_variant,,ENST00000529439,;ARFGAP2,downstream_gene_variant,,ENST00000528041,;ARFGAP2,downstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000525635,;ARFGAP2,downstream_gene_variant,,ENST00000528708,;ARFGAP2,downstream_gene_variant,,ENST00000524727,;ARFGAP2,downstream_gene_variant,,ENST00000524586,;ARFGAP2,downstream_gene_variant,,ENST00000530794,;ARFGAP2,downstream_gene_variant,,ENST00000526185,;	992	42	49	SUCCESS
OR1S1	219959	.	GRCh37	11	57983067	57983067	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772574342	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	135	0	ENST00000309433.6:c.851A>T	p.Asp284Val	p.D284V	ENST00000309433	NM_001004458.1	284	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31546.1	851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGATAAGA	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000311688	.	1/1	.	.	.	.	.	.	.	.	rs772574342	1/1	PASS	ENST00000309433	Transcript	.	.	ENSG00000172774	8227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	OR1S1_HUMAN	OR1S1	HGNC	.	.	UPI0000041C51	SNV	OR1S1,missense_variant,p.Asp284Val,ENST00000309433,;	851	135	101	SUCCESS
CHRM1	1128	.	GRCh37	11	62677923	62677927	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTC	TTCTC	-	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	TTCTC	TTCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	60	0	ENST00000306960.3:c.646_650del	p.Glu216ProfsTer32	p.E216Pfs*32	ENST00000306960	NM_000738.2	216	GAGAAc/c	0	.	.	.	.	.	-	EN/X	protein_coding	YES	CCDS8040.1	646-650	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCGGTTCTCTGTCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF216,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000306490	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306960	Transcript	.	.	ENSG00000168539	1950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACM1_HUMAN	CHRM1	HGNC	Q96RH1_HUMAN,Q53XZ3_HUMAN,F5GZF8_HUMAN	.	UPI00001252AB	deletion	CHRM1,frameshift_variant,p.Glu216ProfsTer32,ENST00000543973,;CHRM1,frameshift_variant,p.Glu216ProfsTer32,ENST00000306960,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.2,intron_variant,,ENST00000543624,;	1188-1192	60	35	SUCCESS
TAS2R20	259295	.	GRCh37	12	11150332	11150332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	77	276	0	ENST00000538986.1:c.143T>C	p.Ile48Thr	p.I48T	ENST00000538986	NM_176889.2	48	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS8639.1	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAATAATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF35,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000441624	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000538986	Transcript	.	.	ENSG00000255837	19109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	deleterious(0)	.	T2R20_HUMAN	TAS2R20	HGNC	Q50KF4_HUMAN	.	UPI000000D822	SNV	TAS2R20,missense_variant,p.Ile48Thr,ENST00000538986,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;	143	276	208	SUCCESS
DAZAP2	9802	.	GRCh37	12	51634874	51634874	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	48	0	ENST00000412716.3:c.352G>T	p.Ala118Ser	p.A118S	ENST00000412716		118	Gct/Tct	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44885.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGCTGGG	NONE	.	.	.	.	.	ENSP00000448051	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000549555	Transcript	.	.	ENSG00000183283	2684	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAZP2_HUMAN	DAZAP2	HGNC	.	.	UPI000183CBDB	SNV	DAZAP2,missense_variant,p.Ala118Ser,ENST00000425012,;DAZAP2,missense_variant,p.Ala96Ser,ENST00000449723,;DAZAP2,missense_variant,p.Ala58Ser,ENST00000551313,;DAZAP2,missense_variant,p.Ala118Ser,ENST00000604900,;DAZAP2,missense_variant,p.Ala118Ser,ENST00000412716,;DAZAP2,missense_variant,p.Ala86Ser,ENST00000549732,;DAZAP2,intron_variant,,ENST00000549555,;DAZAP2,intron_variant,,ENST00000439799,;SMAGP,downstream_gene_variant,,ENST00000603864,;SMAGP,downstream_gene_variant,,ENST00000605426,;SMAGP,downstream_gene_variant,,ENST00000605627,;SMAGP,downstream_gene_variant,,ENST00000398453,;SMAGP,downstream_gene_variant,,ENST00000603798,;DAZAP2,non_coding_transcript_exon_variant,,ENST00000551919,;DAZAP2,non_coding_transcript_exon_variant,,ENST00000549497,;DAZAP2,non_coding_transcript_exon_variant,,ENST00000551534,;DAZAP2,downstream_gene_variant,,ENST00000552173,;DAZAP2,3_prime_UTR_variant,,ENST00000436900,;DAZAP2,non_coding_transcript_exon_variant,,ENST00000552459,;SMAGP,downstream_gene_variant,,ENST00000380103,;DAZAP2,downstream_gene_variant,,ENST00000549041,;	.	48	28	SUCCESS
CSAD	51380	.	GRCh37	12	53566426	53566426	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	40	0	ENST00000444623.1:c.133G>C	p.Glu45Gln	p.E45Q	ENST00000444623	NM_001244705.1	45	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS8848.2	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCACAGA	NONE	.	.	hmmpanther:PTHR11999:SF72,hmmpanther:PTHR11999,Superfamily_domains:SSF53383	.	.	ENSP00000267085	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000267085	Transcript	.	.	ENSG00000139631	18966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	tolerated(0.07)	.	CSAD_HUMAN	CSAD	HGNC	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN	.	UPI0000E59693	SNV	CSAD,missense_variant,p.Glu45Gln,ENST00000444623,;CSAD,missense_variant,p.Glu45Gln,ENST00000437073,;CSAD,missense_variant,p.Glu45Gln,ENST00000498635,;CSAD,missense_variant,p.Glu45Gln,ENST00000542115,;CSAD,missense_variant,p.Glu45Gln,ENST00000453446,;CSAD,missense_variant,p.Glu45Gln,ENST00000424990,;CSAD,missense_variant,p.Glu72Gln,ENST00000267085,;CSAD,missense_variant,p.Glu71Gln,ENST00000379850,;CSAD,intron_variant,,ENST00000379846,;CSAD,intron_variant,,ENST00000379843,;CSAD,intron_variant,,ENST00000548698,;CSAD,non_coding_transcript_exon_variant,,ENST00000491654,;CSAD,upstream_gene_variant,,ENST00000454442,;CSAD,missense_variant,p.Glu45Gln,ENST00000475890,;CSAD,missense_variant,p.Glu13Gln,ENST00000483632,;CSAD,intron_variant,,ENST00000424845,;CSAD,upstream_gene_variant,,ENST00000485004,;CSAD,upstream_gene_variant,,ENST00000490923,;CSAD,upstream_gene_variant,,ENST00000490589,;CSAD,upstream_gene_variant,,ENST00000472908,;CSAD,downstream_gene_variant,,ENST00000461392,;	448	40	22	SUCCESS
SRGAP1	57522	.	GRCh37	12	64377754	64377754	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	78	0	ENST00000355086.3:c.95A>T	p.Gln32Leu	p.Q32L	ENST00000355086	NM_020762.2	32	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS8967.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACAAAAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50133,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657	.	.	ENSP00000347198	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000355086	Transcript	.	.	ENSG00000196935	17382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	SRGP1_HUMAN	SRGAP1	HGNC	.	.	UPI00001A9CB9	SNV	SRGAP1,missense_variant,p.Gln32Leu,ENST00000357825,;SRGAP1,missense_variant,p.Gln32Leu,ENST00000355086,;SRGAP1,5_prime_UTR_variant,,ENST00000543397,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537556,;	619	78	73	SUCCESS
MRPL51	51258	.	GRCh37	12	6602390	6602390	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	20	0	ENST00000229238.3:c.-88C>A		p.*30*	ENST00000229238	NM_016497.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8547.1	.	MUTECT|MUSE	.	ACTAAGGCGAA	NONE	.	.	.	.	.	ENSP00000229238	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000229238	Transcript	.	.	ENSG00000111639	14044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RM51_HUMAN	MRPL51	HGNC	M0R176_HUMAN	.	UPI00000527A8	SNV	MRPL51,5_prime_UTR_variant,,ENST00000229238,;MRPL51,intron_variant,,ENST00000543703,;NCAPD2,upstream_gene_variant,,ENST00000545962,;NCAPD2,upstream_gene_variant,,ENST00000315579,;NCAPD2,upstream_gene_variant,,ENST00000539714,;NCAPD2,upstream_gene_variant,,ENST00000382457,;MRPL51,intron_variant,,ENST00000543164,;MRPL51,intron_variant,,ENST00000540949,;MRPL51,intron_variant,,ENST00000537701,;MRPL51,intron_variant,,ENST00000543959,;NCAPD2,upstream_gene_variant,,ENST00000536538,;NCAPD2,upstream_gene_variant,,ENST00000541399,;MRPL51,upstream_gene_variant,,ENST00000538814,;NCAPD2,upstream_gene_variant,,ENST00000539084,;	375	20	20	SUCCESS
ZNF384	171017	.	GRCh37	12	6787570	6787570	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	109	0	ENST00000361959.3:c.409G>T	p.Ala137Ser	p.A137S	ENST00000361959		137	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS44817.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCTGATG	NONE	.	.	hmmpanther:PTHR11389:SF332,hmmpanther:PTHR11389	.	.	ENSP00000380019	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000396801	Transcript	.	.	ENSG00000126746	11955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.79)	.	ZN384_HUMAN	ZNF384	HGNC	F5H3Z9_HUMAN,F5H105_HUMAN,F5H0D6_HUMAN,F5GYZ1_HUMAN,D3DUR9_HUMAN,B4DQU6_HUMAN,A9X425_HUMAN	.	UPI00001AE6F8	SNV	ZNF384,missense_variant,p.Ala137Ser,ENST00000540915,;ZNF384,missense_variant,p.Ala137Ser,ENST00000417772,;ZNF384,missense_variant,p.Ala121Ser,ENST00000535485,;ZNF384,missense_variant,p.Ala137Ser,ENST00000396795,;ZNF384,missense_variant,p.Ala137Ser,ENST00000361959,;ZNF384,missense_variant,p.Ala137Ser,ENST00000396801,;ZNF384,missense_variant,p.Ala121Ser,ENST00000436774,;ZNF384,missense_variant,p.Ala121Ser,ENST00000319770,;ZNF384,missense_variant,p.Ala137Ser,ENST00000396799,;ZNF384,intron_variant,,ENST00000355772,;ZNF384,downstream_gene_variant,,ENST00000542351,;ZNF384,downstream_gene_variant,,ENST00000544482,;ZNF384,downstream_gene_variant,,ENST00000538829,;ZNF384,non_coding_transcript_exon_variant,,ENST00000542519,;ZNF384,downstream_gene_variant,,ENST00000537248,;ZNF384,downstream_gene_variant,,ENST00000542605,;	617	109	106	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518293	85518293	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781056317	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	35	0	ENST00000393217.2:c.4003A>G	p.Lys1335Glu	p.K1335E	ENST00000393217	NM_001079910.1	1335	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41816.1	4003	MUTECT|MUSE	.	GTGAAAAAATG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00015,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66,PROSITE_profiles:PS50096	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	rs781056317	17/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.2)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Lys1335Glu,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	4064	35	39	SUCCESS
RNF17	56163	.	GRCh37	13	25378454	25378454	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	96	0	ENST00000255324.5:c.1978T>A	p.Phe660Ile	p.F660I	ENST00000255324	NM_031277.2	660	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS9308.2	1978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACTTTGAA	NONE	.	.	hmmpanther:PTHR16442	.	.	ENSP00000255324	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.4)	.	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,missense_variant,p.Phe660Ile,ENST00000255324,;RNF17,missense_variant,p.Phe660Ile,ENST00000381921,;RNF17,5_prime_UTR_variant,,ENST00000418120,;RNF17,intron_variant,,ENST00000255325,;	2030	96	75	SUCCESS
OLFM4	10562	.	GRCh37	13	53608515	53608515	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	92	0	ENST00000219022.2:c.237C>T	p.Asp79=	p.D79=	ENST00000219022	NM_006418.4	79	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS9440.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACCGTGG	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7	.	.	ENSP00000219022	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000219022	Transcript	.	.	ENSG00000102837	17190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLFM4_HUMAN	OLFM4	HGNC	.	.	UPI00000359F0	SNV	OLFM4,synonymous_variant,p.%3D,ENST00000219022,;	315	92	60	SUCCESS
MYCBP2	23077	.	GRCh37	13	77836229	77836229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	40	0	ENST00000357337.6:c.1492G>A	p.Ala498Thr	p.A498T	ENST00000357337		498	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCACCAA	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000444596	.	11/83	.	.	.	.	.	.	.	.	.	11/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Ala498Thr,ENST00000357337,;MYCBP2,missense_variant,p.Ala498Thr,ENST00000544440,;MYCBP2,missense_variant,p.Ala536Thr,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;	1510	40	40	SUCCESS
FITM1	161247	.	GRCh37	14	24600778	24600778	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757322140	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	42	0	ENST00000267426.5:c.6G>T	p.Glu2Asp	p.E2D	ENST00000267426	NM_203402.2	2	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	.	570	MUTECT|MUSE	.	ATGGAGCGGGG	NONE	.	.	.	.	.	ENSP00000453089	.	3/3	.	.	.	.	.	.	.	.	rs757322140	3/3	PASS	ENST00000558325	Transcript	.	.	ENSG00000259371	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.07)	.	.	RP11-468E2.6	Clone_based_vega_gene	.	.	UPI00022F866E	SNV	RP11-468E2.6,missense_variant,p.Glu190Asp,ENST00000558325,;FITM1,missense_variant,p.Glu2Asp,ENST00000267426,;PSME1,upstream_gene_variant,,ENST00000206451,;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000382708,;PSME1,upstream_gene_variant,,ENST00000561435,;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;	568	42	41	SUCCESS
GZMH	2999	.	GRCh37	14	25076509	25076509	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs758448763	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	35	0	ENST00000216338.4:c.443del	p.Gly148ValfsTer5	p.G148Vfs*5	ENST00000216338	NM_033423.4	148	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS9632.1	443	INDELOCATOR*|VARSCANI*|PINDEL	.	ACATAACCCCAG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271:SF20,hmmpanther:PTHR24271,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216338	.	4/5	.	.	.	.	.	.	.	.	rs758448763	4/5	PASS	ENST00000216338	Transcript	.	.	ENSG00000100450	4710	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRAH_HUMAN	GZMH	HGNC	.	.	UPI00000012B3	deletion	GZMH,frameshift_variant,p.Gly148ValfsTer5,ENST00000216338,;GZMH,intron_variant,,ENST00000557220,;GZMH,intron_variant,,ENST00000382548,;RP11-104E19.1,intron_variant,,ENST00000555300,;RP11-104E19.1,intron_variant,,ENST00000557736,;	488	35	46	SUCCESS
SPATA7	55812	.	GRCh37	14	88857749	88857749	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200551653	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	83	0	ENST00000393545.4:c.44G>T	p.Arg15Ile	p.R15I	ENST00000393545	NM_018418.4	15	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS9883.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGATATG	NONE	byCluster	.	Pfam_domain:PF15244,hmmpanther:PTHR14917	.	.	ENSP00000377176	.	2/12	.	.	.	.	.	.	.	.	rs200551653	2/12	PASS	ENST00000393545	Transcript	.	.	ENSG00000042317	20423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.692)	.	deleterious(0.02)	.	SPAT7_HUMAN	SPATA7	HGNC	.	.	UPI00000712C7	SNV	SPATA7,missense_variant,p.Arg15Ile,ENST00000356583,;SPATA7,missense_variant,p.Arg15Ile,ENST00000045347,;SPATA7,missense_variant,p.Arg15Ile,ENST00000393545,;SPATA7,missense_variant,p.Arg15Ile,ENST00000553885,;SPATA7,missense_variant,p.Arg15Ile,ENST00000556553,;SPATA7,intron_variant,,ENST00000555401,;SPATA7,non_coding_transcript_exon_variant,,ENST00000554102,;SPATA7,missense_variant,p.Arg15Ile,ENST00000553908,;SPATA7,missense_variant,p.Arg15Ile,ENST00000555715,;SPATA7,missense_variant,p.Arg15Ile,ENST00000557248,;SPATA7,missense_variant,p.Arg15Ile,ENST00000556870,;SPATA7,missense_variant,p.Arg15Ile,ENST00000555515,;SPATA7,missense_variant,p.Arg15Ile,ENST00000555534,;SPATA7,3_prime_UTR_variant,,ENST00000555356,;SPATA7,3_prime_UTR_variant,,ENST00000557724,;SPATA7,3_prime_UTR_variant,,ENST00000554168,;SPATA7,non_coding_transcript_exon_variant,,ENST00000553626,;SPATA7,non_coding_transcript_exon_variant,,ENST00000557567,;	333	83	62	SUCCESS
FBLN5	10516	.	GRCh37	14	92413734	92413734	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	50	0	ENST00000342058.4:c.-161C>G		p.*54*	ENST00000342058	NM_006329.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9898.1	.	MUTECT|MUSE	.	AGAGCGCCGGG	NONE	.	.	.	.	.	ENSP00000345008	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000342058	Transcript	1	.	ENSG00000140092	3602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBLN5_HUMAN	FBLN5	HGNC	G3V3Y2_HUMAN	.	UPI0000001070	SNV	FBLN5,5_prime_UTR_variant,,ENST00000554468,;FBLN5,5_prime_UTR_variant,,ENST00000342058,;FBLN5,5_prime_UTR_variant,,ENST00000267620,;FBLN5,upstream_gene_variant,,ENST00000556154,;FBLN5,upstream_gene_variant,,ENST00000557462,;FBLN5,5_prime_UTR_variant,,ENST00000557088,;FBLN5,5_prime_UTR_variant,,ENST00000557570,;	434	50	46	SUCCESS
DUOXA2	405753	.	GRCh37	15	45410034	45410034	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	37	103	0	ENST00000323030.5:c.890C>T	p.Pro297Leu	p.P297L	ENST00000323030	NM_207581.3	297	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS10118.2	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCTCTTA	NONE	.	.	hmmpanther:PTHR31158:SF2,hmmpanther:PTHR31158	.	.	ENSP00000319705	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000323030	Transcript	1	.	ENSG00000140274	32698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.08)	.	DOXA2_HUMAN	DUOXA2	HGNC	.	.	UPI000049DDDD	SNV	DUOXA2,missense_variant,p.Pro297Leu,ENST00000323030,;DUOXA1,3_prime_UTR_variant,,ENST00000558996,;DUOXA1,intron_variant,,ENST00000267803,;DUOXA1,intron_variant,,ENST00000559014,;DUOXA1,intron_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000558422,;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOXA1,downstream_gene_variant,,ENST00000558377,;DUOXA1,downstream_gene_variant,,ENST00000560572,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOX2,upstream_gene_variant,,ENST00000603300,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA2,3_prime_UTR_variant,,ENST00000491993,;DUOX2,upstream_gene_variant,,ENST00000558383,;DUOXA2,downstream_gene_variant,,ENST00000350243,;DUOXA1,downstream_gene_variant,,ENST00000559013,;	1175	103	71	SUCCESS
ZNF280D	54816	.	GRCh37	15	56968993	56968993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	33	96	1	ENST00000267807.7:c.1285T>C	p.Ser429Pro	p.S429P	ENST00000267807	NM_017661.2	429	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS32245.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGATGATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23228:SF114,hmmpanther:PTHR23228,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000267807	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000267807	Transcript	.	.	ENSG00000137871	25953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated(0.06)	.	Z280D_HUMAN	ZNF280D	HGNC	H0YN90_HUMAN	.	UPI00003FF962	SNV	ZNF280D,missense_variant,p.Ser133Pro,ENST00000396245,;ZNF280D,missense_variant,p.Ser429Pro,ENST00000267807,;ZNF280D,missense_variant,p.Ser416Pro,ENST00000559237,;ZNF280D,missense_variant,p.Ser416Pro,ENST00000559000,;ZNF280D,missense_variant,p.Ser133Pro,ENST00000558067,;ZNF280D,missense_variant,p.Ser429Pro,ENST00000560002,;ZNF280D,missense_variant,p.Ser429Pro,ENST00000558002,;ZNF280D,non_coding_transcript_exon_variant,,ENST00000560121,;	1502	97	65	SUCCESS
CSPG4	1464	.	GRCh37	15	75968199	75968199	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	36	0	ENST00000308508.5:c.6661A>G	p.Asn2221Asp	p.N2221D	ENST00000308508	NM_001897.4	2221	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS10284.1	6661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTTGGCCT	NONE	.	.	hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	.	ENSP00000312506	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.653)	.	deleterious(0.01)	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,missense_variant,p.Asn2221Asp,ENST00000308508,;AC105020.1,upstream_gene_variant,,ENST00000435356,;CTD-2026K11.1,upstream_gene_variant,,ENST00000569467,;	6754	36	28	SUCCESS
GP2	2813	.	GRCh37	16	20335564	20335564	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	57	182	0	ENST00000381362.4:c.109A>G	p.Ile37Val	p.I37V	ENST00000381362	NM_001007240.1	37	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42128.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATGGGGT	NONE	.	.	.	.	.	ENSP00000370767	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000381362	Transcript	.	.	ENSG00000169347	4441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.62)	.	GP2_HUMAN	GP2	HGNC	I3L2Z7_HUMAN	.	UPI000059D333	SNV	GP2,missense_variant,p.Ile37Val,ENST00000381362,;GP2,missense_variant,p.Ile37Val,ENST00000575449,;GP2,missense_variant,p.Ile37Val,ENST00000302555,;GP2,intron_variant,,ENST00000341642,;GP2,intron_variant,,ENST00000575582,;GP2,intron_variant,,ENST00000381360,;GP2,intron_variant,,ENST00000572478,;GP2,intron_variant,,ENST00000572347,;GP2,non_coding_transcript_exon_variant,,ENST00000575730,;GP2,upstream_gene_variant,,ENST00000573897,;GP2,intron_variant,,ENST00000574982,;	186	182	131	SUCCESS
ITFG1	81533	.	GRCh37	16	47292650	47292650	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	37	0	ENST00000320640.6:c.1223G>T	p.Gly408Val	p.G408V	ENST00000320640	NM_030790.3	408	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10728.1	1223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCCCTGG	NONE	.	.	hmmpanther:PTHR13412:SF0,hmmpanther:PTHR13412,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000319918	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000320640	Transcript	.	.	ENSG00000129636	30697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TIP_HUMAN	ITFG1	HGNC	H3BQ64_HUMAN,B4DSA2_HUMAN,B4DHQ9_HUMAN	.	UPI0000039EB3	SNV	ITFG1,missense_variant,p.Gly408Val,ENST00000320640,;ITFG1,missense_variant,p.Gly295Val,ENST00000544001,;ITFG1,upstream_gene_variant,,ENST00000565262,;ITFG1,splice_region_variant,,ENST00000537184,;ITFG1,splice_region_variant,,ENST00000542691,;ITFG1,splice_region_variant,,ENST00000568047,;ITFG1,downstream_gene_variant,,ENST00000564825,;RP11-329J18.4,upstream_gene_variant,,ENST00000562293,;	1452	37	38	SUCCESS
GLYR1	84656	.	GRCh37	16	4867670	4867670	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	71	0	ENST00000321919.9:c.835G>A	p.Gly279Arg	p.G279R	ENST00000321919	NM_032569.3	279	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10524.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCCATGA	BUFFER|p.I282I|c.846C>T|3	.	.	hmmpanther:PTHR22981,hmmpanther:PTHR22981:SF56,Gene3D:3.40.50.720,Pfam_domain:PF03446,Superfamily_domains:SSF51735	.	.	ENSP00000322716	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000321919	Transcript	.	.	ENSG00000140632	24434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLYR1_HUMAN	GLYR1	HGNC	K7EPU6_HUMAN	.	UPI00001FF8EE	SNV	GLYR1,missense_variant,p.Gly279Arg,ENST00000321919,;GLYR1,missense_variant,p.Gly262Arg,ENST00000381983,;GLYR1,missense_variant,p.Gly250Arg,ENST00000589389,;GLYR1,missense_variant,p.Gly279Arg,ENST00000591451,;GLYR1,missense_variant,p.Gly198Arg,ENST00000436648,;GLYR1,missense_variant,p.Gly181Arg,ENST00000588297,;GLYR1,downstream_gene_variant,,ENST00000587297,;GLYR1,3_prime_UTR_variant,,ENST00000588732,;GLYR1,non_coding_transcript_exon_variant,,ENST00000591846,;GLYR1,non_coding_transcript_exon_variant,,ENST00000586095,;GLYR1,upstream_gene_variant,,ENST00000587936,;	912	72	59	SUCCESS
VPS4A	27183	.	GRCh37	16	69356497	69356497	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1256093452	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	80	0	ENST00000254950.11:c.1106T>C	p.Met369Thr	p.M369T	ENST00000254950	NM_013245.2	369	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS45517.1	1106	MUTECT|MUSE	.	CATGATGATTG	NONE	.	.	hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF82	.	.	ENSP00000254950	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000254950	Transcript	.	.	ENSG00000132612	13488	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	VPS4A_HUMAN	VPS4A	HGNC	Q9UF30_HUMAN	.	UPI000000DC7F	SNV	VPS4A,missense_variant,p.Met369Thr,ENST00000254950,;COG8,downstream_gene_variant,,ENST00000306875,;RP11-343C2.11,downstream_gene_variant,,ENST00000570054,;COG8,downstream_gene_variant,,ENST00000562595,;COG8,intron_variant,,ENST00000564419,;VPS4A,downstream_gene_variant,,ENST00000564399,;VPS4A,non_coding_transcript_exon_variant,,ENST00000566354,;VPS4A,downstream_gene_variant,,ENST00000562754,;	1262	80	61	SUCCESS
PKD1L2	114780	.	GRCh37	16	81232485	81232485	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	40	177	0	ENST00000337114.4:c.1325T>C	p.Ile442Thr	p.I442T	ENST00000337114	NM_001076780.1	442	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	.	.	1325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAATGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877,PROSITE_profiles:PS51111	.	.	ENSP00000337397	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000337114	Transcript	.	.	ENSG00000166473	21715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	deleterious(0)	.	PK1L2_HUMAN	PKD1L2	HGNC	Q6AI51_HUMAN	.	UPI0000E4C8FA	SNV	PKD1L2,missense_variant,p.Ile442Thr,ENST00000337114,;PKD1L2,upstream_gene_variant,,ENST00000526632,;PKD1L2,missense_variant,p.Ile442Thr,ENST00000525539,;	1325	177	137	SUCCESS
RNF112	7732	.	GRCh37	17	19316655	19316655	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	136	0	ENST00000461366.1:c.651C>A	p.Gly217=	p.G217=	ENST00000461366	NM_007148.4	217	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS58529.1	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCGCCAA	NONE	.	.	PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540	.	.	ENSP00000454919	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000461366	Transcript	.	.	ENSG00000128482	12968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN112_HUMAN	RNF112	HGNC	J3QRB8_HUMAN	.	UPI00001B0607	SNV	RNF112,synonymous_variant,p.%3D,ENST00000461366,;RNF112,downstream_gene_variant,,ENST00000575165,;CTB-187M2.2,upstream_gene_variant,,ENST00000579897,;RNF112,non_coding_transcript_exon_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574149,;RNF112,upstream_gene_variant,,ENST00000574782,;	866	137	93	SUCCESS
ATAD5	79915	.	GRCh37	17	29162604	29162604	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	79	231	0	ENST00000321990.4:c.1505A>G	p.Lys502Arg	p.K502R	ENST00000321990	NM_024857.3	502	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11260.1	1505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAAGAAAG	NONE	.	.	hmmpanther:PTHR15828:SF1,hmmpanther:PTHR15828	.	.	ENSP00000313171	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000321990	Transcript	.	.	ENSG00000176208	25752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	tolerated(0.06)	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,missense_variant,p.Lys502Arg,ENST00000321990,;CTD-2349P21.11,intron_variant,,ENST00000580873,;ATAD5,missense_variant,p.Lys502Arg,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;CTD-2349P21.1,downstream_gene_variant,,ENST00000490847,;	1883	231	189	SUCCESS
PIGW	284098	.	GRCh37	17	34893442	34893442	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	30	130	0	ENST00000592983.1:c.492A>G	p.Thr164=	p.T164=	ENST00000592983		164	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS11313.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACAGGAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR20661,PIRSF_domain:PIRSF017321	.	.	ENSP00000468778	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000592983	Transcript	.	.	ENSG00000184886	23213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGW_HUMAN	PIGW	HGNC	C9JLC8_HUMAN	.	UPI00001984EA	SNV	PIGW,synonymous_variant,p.%3D,ENST00000328396,;PIGW,synonymous_variant,p.%3D,ENST00000592983,;PIGW,synonymous_variant,p.%3D,ENST00000429467,;MYO19,upstream_gene_variant,,ENST00000585818,;MYO19,upstream_gene_variant,,ENST00000544606,;MYO19,upstream_gene_variant,,ENST00000268852,;MYO19,upstream_gene_variant,,ENST00000431794,;MYO19,upstream_gene_variant,,ENST00000586007,;MYO19,upstream_gene_variant,,ENST00000585719,;MYO19,upstream_gene_variant,,ENST00000589404,;MYO19,upstream_gene_variant,,ENST00000586886,;MYO19,intron_variant,,ENST00000586879,;MYO19,intron_variant,,ENST00000590081,;MYO19,upstream_gene_variant,,ENST00000592380,;MYO19,upstream_gene_variant,,ENST00000588664,;MYO19,upstream_gene_variant,,ENST00000591794,;MYO19,upstream_gene_variant,,ENST00000586908,;	1072	130	98	SUCCESS
SOCS7	30837	.	GRCh37	17	36508540	36508540	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	71	202	0	ENST00000577233.1:c.413G>A	p.Ser138Asn	p.S138N	ENST00000577233	NM_014598.2	138	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS32637.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10385:SF30,hmmpanther:PTHR10385	.	.	ENSP00000464034	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000577233	Transcript	.	.	ENSG00000174111	29846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	tolerated_low_confidence(0.18)	.	SOCS7_HUMAN	SOCS7	HGNC	.	.	UPI00001AFDEB	SNV	SOCS7,missense_variant,p.Ser138Asn,ENST00000331159,;SOCS7,missense_variant,p.Ser138Asn,ENST00000577233,;SOCS7,upstream_gene_variant,,ENST00000580660,;SOCS7,non_coding_transcript_exon_variant,,ENST00000584132,;	413	202	174	SUCCESS
SOCS7	30837	.	GRCh37	17	36508541	36508541	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	70	204	0	ENST00000577233.1:c.414C>G	p.Ser138Arg	p.S138R	ENST00000577233	NM_014598.2	138	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS32637.1	414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCAGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10385:SF30,hmmpanther:PTHR10385	.	.	ENSP00000464034	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000577233	Transcript	.	.	ENSG00000174111	29846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	deleterious_low_confidence(0)	.	SOCS7_HUMAN	SOCS7	HGNC	.	.	UPI00001AFDEB	SNV	SOCS7,missense_variant,p.Ser138Arg,ENST00000331159,;SOCS7,missense_variant,p.Ser138Arg,ENST00000577233,;SOCS7,upstream_gene_variant,,ENST00000580660,;SOCS7,non_coding_transcript_exon_variant,,ENST00000584132,;	414	204	170	SUCCESS
BRCA1	672	.	GRCh37	17	41246777	41246777	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	67	0	ENST00000357654.3:c.771T>C	p.His257=	p.H257=	ENST00000357654	NM_007294.3	257	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS11456.2	771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGATGCCT	NONE	.	.	hmmpanther:PTHR13763:SF0,hmmpanther:PTHR13763,PIRSF_domain:PIRSF001734	.	.	ENSP00000418960	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000471181	Transcript	.	.	ENSG00000012048	1100	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	BRCA1	HGNC	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFC7_HUMAN,E7EWN5_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN	.	UPI0000E0360B	SNV	BRCA1,synonymous_variant,p.%3D,ENST00000470026,;BRCA1,synonymous_variant,p.%3D,ENST00000494123,;BRCA1,synonymous_variant,p.%3D,ENST00000477152,;BRCA1,synonymous_variant,p.%3D,ENST00000493919,;BRCA1,synonymous_variant,p.%3D,ENST00000346315,;BRCA1,synonymous_variant,p.%3D,ENST00000357654,;BRCA1,synonymous_variant,p.%3D,ENST00000473961,;BRCA1,synonymous_variant,p.%3D,ENST00000354071,;BRCA1,synonymous_variant,p.%3D,ENST00000468300,;BRCA1,synonymous_variant,p.%3D,ENST00000493795,;BRCA1,synonymous_variant,p.%3D,ENST00000478531,;BRCA1,synonymous_variant,p.%3D,ENST00000491747,;BRCA1,synonymous_variant,p.%3D,ENST00000471181,;BRCA1,synonymous_variant,p.%3D,ENST00000484087,;BRCA1,synonymous_variant,p.%3D,ENST00000487825,;BRCA1,5_prime_UTR_variant,,ENST00000497488,;BRCA1,5_prime_UTR_variant,,ENST00000309486,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,upstream_gene_variant,,ENST00000461574,;BRCA1,synonymous_variant,p.%3D,ENST00000412061,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,3_prime_UTR_variant,,ENST00000492859,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;	1003	67	50	SUCCESS
LSM12	124801	.	GRCh37	17	42144012	42144012	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	41	0	ENST00000293406.3:c.-57G>T		p.*19*	ENST00000293406				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11475.1	.	MUTECT|MUSE	.	CCGGGCCCCCA	NONE	.	.	.	.	.	ENSP00000466718	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000591247	Transcript	.	.	ENSG00000161654	26407	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LSM12_HUMAN	LSM12	HGNC	.	.	UPI0000021A76	SNV	LSM12,5_prime_UTR_variant,,ENST00000293406,;LSM12,5_prime_UTR_variant,,ENST00000585388,;LSM12,5_prime_UTR_variant,,ENST00000591247,;G6PC3,upstream_gene_variant,,ENST00000269097,;G6PC3,upstream_gene_variant,,ENST00000591696,;G6PC3,upstream_gene_variant,,ENST00000585962,;G6PC3,upstream_gene_variant,,ENST00000585361,;G6PC3,upstream_gene_variant,,ENST00000588558,;G6PC3,upstream_gene_variant,,ENST00000590639,;G6PC3,upstream_gene_variant,,ENST00000593115,;	267	41	36	SUCCESS
HELZ	9931	.	GRCh37	17	65174829	65174829	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	119	0	ENST00000358691.5:c.1376G>C	p.Arg459Pro	p.R459P	ENST00000358691	NM_014877.3	459	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS42374.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACCGTGAC	NONE	.	.	hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887	.	.	ENSP00000351524	.	13/33	.	.	.	.	.	.	.	.	COSM473238,COSM983238	13/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Arg459Pro,ENST00000580168,;HELZ,missense_variant,p.Arg147Pro,ENST00000578783,;HELZ,missense_variant,p.Arg459Pro,ENST00000358691,;HELZ,non_coding_transcript_exon_variant,,ENST00000578938,;HELZ,missense_variant,p.Arg459Pro,ENST00000579953,;HELZ,missense_variant,p.Arg459Pro,ENST00000417253,;	1543	119	71	SUCCESS
CBX4	8535	.	GRCh37	17	77808906	77808906	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	56	0	ENST00000269397.4:c.535G>T	p.Glu179Ter	p.E179*	ENST00000269397	NM_003655.2	179	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32758.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCCTTGT	NONE	.	.	hmmpanther:PTHR22812:SF10,hmmpanther:PTHR22812	.	.	ENSP00000269397	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269397	Transcript	.	.	ENSG00000141582	1554	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBX4_HUMAN	CBX4	HGNC	.	.	UPI000013D82E	SNV	CBX4,stop_gained,p.Glu179Ter,ENST00000269397,;CBX4,3_prime_UTR_variant,,ENST00000448310,;CBX4,downstream_gene_variant,,ENST00000495122,;CBX4,downstream_gene_variant,,ENST00000494546,;	713	56	47	SUCCESS
SMAD4	4089	.	GRCh37	18	48604747	48604747	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	31	95	0	ENST00000342988.3:c.1569C>G	p.Cys523Trp	p.C523W	ENST00000342988	NM_005359.5	523	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS11950.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCTGGAT	SITE|p.C523W|c.1569C>G|3,CODON|p.0?|c.1_1659del1659|28,BUFFER|p.E526*|c.1576G>T|4	.	.	PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879	.	.	ENSP00000341551	.	12/12	.	.	.	.	.	.	.	.	COSM14115	12/12	PASS	ENST00000342988	Transcript	.	.	ENSG00000141646	6770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	SMAD4_HUMAN	SMAD4	HGNC	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN	.	UPI0000053431	SNV	SMAD4,missense_variant,p.Cys523Trp,ENST00000342988,;SMAD4,missense_variant,p.Cys523Trp,ENST00000398417,;SMAD4,missense_variant,p.Cys427Trp,ENST00000588745,;SMAD4,downstream_gene_variant,,ENST00000593223,;SMAD4,non_coding_transcript_exon_variant,,ENST00000586253,;SMAD4,3_prime_UTR_variant,,ENST00000592186,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,downstream_gene_variant,,ENST00000590499,;	2107	95	48	SUCCESS
PHLPP1	23239	.	GRCh37	18	60570211	60570211	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	33	0	ENST00000262719.5:c.2459G>C	p.Arg820Thr	p.R820T	ENST00000262719		820	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS45881.2	2459	MUTECT|MUSE	.	AATTAGGAAGC	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF252,hmmpanther:PTHR23155	.	.	ENSP00000262719	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000262719	Transcript	.	.	ENSG00000081913	20610	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.101)	.	tolerated(0.11)	.	PHLP1_HUMAN	PHLPP1	HGNC	.	.	UPI000051AE2E	SNV	PHLPP1,missense_variant,p.Arg308Thr,ENST00000400316,;PHLPP1,missense_variant,p.Arg820Thr,ENST00000262719,;PHLPP1,upstream_gene_variant,,ENST00000591386,;PHLPP1,upstream_gene_variant,,ENST00000591106,;	2693	33	21	SUCCESS
CTDP1	9150	.	GRCh37	18	77474844	77474844	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	28	142	0	ENST00000299543.7:c.1384A>T	p.Ser462Cys	p.S462C	ENST00000299543	NM_001202504.1	462	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12017.1	1384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23081:SF0,hmmpanther:PTHR23081	.	.	ENSP00000299543	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000299543	Transcript	.	.	ENSG00000060069	2498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.592)	.	deleterious(0.01)	.	CTDP1_HUMAN	CTDP1	HGNC	K7EPW4_HUMAN	.	UPI000013C57B	SNV	CTDP1,missense_variant,p.Ser394Cys,ENST00000591598,;CTDP1,missense_variant,p.Ser462Cys,ENST00000075430,;CTDP1,missense_variant,p.Ser462Cys,ENST00000299543,;	1531	142	53	SUCCESS
C19orf57	0	.	GRCh37	19	14006250	14006250	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	41	149	0	ENST00000346736.2:c.141G>A	p.Glu47=	p.E47=	ENST00000346736	NM_024323.3	47	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS12299.1	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCTCTGG	NONE	.	.	hmmpanther:PTHR14583	.	.	ENSP00000254336	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000346736	Transcript	.	.	ENSG00000132016	28153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS057_HUMAN	C19orf57	HGNC	.	.	UPI0000070B0B	SNV	C19orf57,synonymous_variant,p.%3D,ENST00000454313,;C19orf57,synonymous_variant,p.%3D,ENST00000586783,;C19orf57,synonymous_variant,p.%3D,ENST00000591586,;C19orf57,synonymous_variant,p.%3D,ENST00000346736,;C19orf57,intron_variant,,ENST00000585755,;	269	149	106	SUCCESS
NFIC	4782	.	GRCh37	19	3449113	3449113	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1043201283	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	76	0	ENST00000443272.2:c.1060C>T	p.Arg354Trp	p.R354W	ENST00000443272	NM_001245002.1	354	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS59330.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCGGCCC	NONE	.	.	hmmpanther:PTHR11492,Pfam_domain:PF00859	.	.	ENSP00000396843	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,missense_variant,p.Arg354Trp,ENST00000590282,;NFIC,missense_variant,p.Arg354Trp,ENST00000341919,;NFIC,missense_variant,p.Arg345Trp,ENST00000395111,;NFIC,missense_variant,p.Arg321Trp,ENST00000586919,;NFIC,missense_variant,p.Arg345Trp,ENST00000589123,;NFIC,missense_variant,p.Arg321Trp,ENST00000346156,;NFIC,missense_variant,p.Arg354Trp,ENST00000443272,;NFIC,upstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;NFIC,upstream_gene_variant,,ENST00000589969,;	1111	76	53	SUCCESS
ZNF585A	199704	.	GRCh37	19	37647217	37647217	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	79	0	ENST00000292841.5:c.-53G>T		p.*18*	ENST00000292841	NM_152655.2	26		0	.	.	.	.	.	A	R/I	protein_coding	YES	.	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCTGCTG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000465212	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000588873	Transcript	.	.	ENSG00000267360	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	.	CTC-454I21.3	Clone_based_vega_gene	.	.	UPI0002840C24	SNV	CTC-454I21.3,missense_variant,p.Arg26Ile,ENST00000588873,;ZNF585A,missense_variant,p.Arg38Ile,ENST00000356958,;ZNF585A,5_prime_UTR_variant,,ENST00000292841,;ZNF585A,5_prime_UTR_variant,,ENST00000355533,;ZNF585A,5_prime_UTR_variant,,ENST00000392157,;ZNF585A,non_coding_transcript_exon_variant,,ENST00000588723,;ZNF585A,missense_variant,p.Arg38Ile,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	76	79	54	SUCCESS
PLEKHG2	64857	.	GRCh37	19	39915656	39915656	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	62	0	ENST00000425673.1:c.3796G>C	p.Gly1266Arg	p.G1266R	ENST00000425673		1266	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS33022.2	3883	RADIA|MUTECT|MUSE	.	GGCAGGGGCCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000386733	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000409794	Transcript	.	.	ENSG00000090924	29515	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PKHG2_HUMAN	PLEKHG2	HGNC	.	.	UPI00001C2028	SNV	PLEKHG2,missense_variant,p.Gly1163Arg,ENST00000205135,;PLEKHG2,missense_variant,p.Gly1266Arg,ENST00000425673,;PLEKHG2,missense_variant,p.Gly1295Arg,ENST00000409794,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,intron_variant,,ENST00000378550,;PLEKHG2,intron_variant,,ENST00000598238,;PLEKHG2,intron_variant,,ENST00000594161,;PLEKHG2,intron_variant,,ENST00000458508,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000600210,;PLEKHG2,intron_variant,,ENST00000594124,;PLEKHG2,intron_variant,,ENST00000596339,;CTB-60E11.4,upstream_gene_variant,,ENST00000601124,;PLEKHG2,downstream_gene_variant,,ENST00000594307,;PLEKHG2,downstream_gene_variant,,ENST00000474449,;PLEKHG2,downstream_gene_variant,,ENST00000478523,;	4733	62	37	SUCCESS
LTBP4	8425	.	GRCh37	19	41129571	41129571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	79	0	ENST00000308370.7:c.3817G>A	p.Ala1273Thr	p.A1273T	ENST00000308370	NM_001042544.1	1273	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	3817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGGCCCCG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026	.	.	ENSP00000311905	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	tolerated(0.39)	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,missense_variant,p.Ala641Thr,ENST00000545697,;LTBP4,missense_variant,p.Ala1273Thr,ENST00000308370,;LTBP4,missense_variant,p.Ala420Thr,ENST00000601032,;LTBP4,missense_variant,p.Ala1206Thr,ENST00000396819,;LTBP4,missense_variant,p.Ala183Thr,ENST00000599724,;LTBP4,missense_variant,p.Ala1236Thr,ENST00000204005,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000593463,;LTBP4,downstream_gene_variant,,ENST00000597071,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000597603,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,downstream_gene_variant,,ENST00000601560,;LTBP4,downstream_gene_variant,,ENST00000595183,;LTBP4,upstream_gene_variant,,ENST00000599225,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598178,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,non_coding_transcript_exon_variant,,ENST00000597816,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594116,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000594457,;LTBP4,downstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000597151,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000593614,;LTBP4,downstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000600499,;LTBP4,downstream_gene_variant,,ENST00000594266,;	3817	79	40	SUCCESS
FCER2	2208	.	GRCh37	19	7763670	7763670	+	synonymous_variant	Silent	SNP	G	G	T	rs376326260	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	32	106	0	ENST00000346664.5:c.93C>A	p.Thr31=	p.T31=	ENST00000346664	NM_001220500.1	31	acC/acA	0	A:0.0005	.	.	.	.	T	T	protein_coding	YES	CCDS12184.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGTCAC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF24	.	A:0	ENSP00000264072	.	3/11	.	.	.	.	.	.	.	.	rs376326260	3/11	PASS	ENST00000346664	Transcript	.	.	ENSG00000104921	3612	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCER2_HUMAN	FCER2	HGNC	.	.	UPI000002BEF3	SNV	FCER2,synonymous_variant,p.%3D,ENST00000593418,;FCER2,synonymous_variant,p.%3D,ENST00000597921,;FCER2,synonymous_variant,p.%3D,ENST00000346664,;FCER2,synonymous_variant,p.%3D,ENST00000360067,;FCER2,non_coding_transcript_exon_variant,,ENST00000598803,;FCER2,non_coding_transcript_exon_variant,,ENST00000597934,;FCER2,non_coding_transcript_exon_variant,,ENST00000597312,;	306	106	93	SUCCESS
LPPR3	0	.	GRCh37	19	813388	813388	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1335171754	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	34	0	ENST00000520876.3:c.1339G>A	p.Glu447Lys	p.E447K	ENST00000520876	NM_001270366.1	447	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12043.1	1423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCTCCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000352962	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000359894	Transcript	.	.	ENSG00000129951	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	tolerated(0.86)	.	.	LPPR3	Uniprot_gn	K7ELK5_HUMAN	.	UPI00000730B6	SNV	LPPR3,missense_variant,p.Glu447Lys,ENST00000520876,;LPPR3,missense_variant,p.Glu475Lys,ENST00000359894,;PTBP1,downstream_gene_variant,,ENST00000349038,;PTBP1,downstream_gene_variant,,ENST00000394601,;PTBP1,downstream_gene_variant,,ENST00000585956,;PTBP1,downstream_gene_variant,,ENST00000356948,;LPPR3,downstream_gene_variant,,ENST00000519502,;LPPR3,downstream_gene_variant,,ENST00000517665,;PTBP1,downstream_gene_variant,,ENST00000350092,;MIR3187,upstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000589770,;PTBP1,downstream_gene_variant,,ENST00000585932,;PTBP1,downstream_gene_variant,,ENST00000587191,;PTBP1,downstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000586944,;	1487	34	29	SUCCESS
HENMT1	113802	.	GRCh37	1	109191371	109191371	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	48	167	0	ENST00000370032.5:c.999C>T	p.Phe333=	p.F333=	ENST00000370032	NM_144584.2	333	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS787.1	999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGAAGGG	NONE	.	.	hmmpanther:PTHR21404:SF1,hmmpanther:PTHR21404	.	.	ENSP00000359049	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000370032	Transcript	.	.	ENSG00000162639	26400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HENMT_HUMAN	HENMT1	HGNC	.	.	UPI000013E19C	SNV	HENMT1,synonymous_variant,p.%3D,ENST00000370031,;HENMT1,synonymous_variant,p.%3D,ENST00000370032,;HENMT1,synonymous_variant,p.%3D,ENST00000402983,;FAM102B,downstream_gene_variant,,ENST00000405454,;HENMT1,downstream_gene_variant,,ENST00000420055,;HENMT1,downstream_gene_variant,,ENST00000483729,;HENMT1,downstream_gene_variant,,ENST00000493676,;	1420	167	74	SUCCESS
VPS45	11311	.	GRCh37	1	150053492	150053492	+	synonymous_variant	Silent	SNP	G	G	T	rs375831361	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	41	131	0	ENST00000369130.3:c.756G>T	p.Val252=	p.V252=	ENST00000369130	NM_001279354.1	252	gtG/gtT	0	T:0	.	.	.	.	T	V	protein_coding	YES	CCDS944.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGCCGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11679:SF3,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.90.830.10,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	T:0.0001	ENSP00000358126	.	8/15	.	.	.	.	.	.	.	.	rs375831361	8/15	PASS	ENST00000369130	Transcript	.	.	ENSG00000136631	14579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS45_HUMAN	VPS45	HGNC	.	.	UPI00000015E6	SNV	VPS45,synonymous_variant,p.%3D,ENST00000369130,;VPS45,synonymous_variant,p.%3D,ENST00000419023,;VPS45,synonymous_variant,p.%3D,ENST00000369128,;VPS45,synonymous_variant,p.%3D,ENST00000535106,;VPS45,non_coding_transcript_exon_variant,,ENST00000477558,;VPS45,downstream_gene_variant,,ENST00000497638,;VPS45,downstream_gene_variant,,ENST00000460366,;VPS45,downstream_gene_variant,,ENST00000462852,;	1302	131	178	SUCCESS
UBAP2L	9898	.	GRCh37	1	154201144	154201144	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	40	0	ENST00000361546.2:c.222C>T	p.Asp74=	p.D74=	ENST00000361546		74	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS1063.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACTGCAA	NONE	.	.	Superfamily_domains:SSF46934,SMART_domains:SM00165,Gene3D:1.10.8.10,hmmpanther:PTHR16308:SF18,hmmpanther:PTHR16308,PROSITE_profiles:PS50030	.	.	ENSP00000389445	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,synonymous_variant,p.%3D,ENST00000437652,;UBAP2L,synonymous_variant,p.%3D,ENST00000441890,;UBAP2L,synonymous_variant,p.%3D,ENST00000361546,;UBAP2L,synonymous_variant,p.%3D,ENST00000271877,;UBAP2L,synonymous_variant,p.%3D,ENST00000368504,;UBAP2L,synonymous_variant,p.%3D,ENST00000456325,;UBAP2L,synonymous_variant,p.%3D,ENST00000343815,;UBAP2L,synonymous_variant,p.%3D,ENST00000412596,;UBAP2L,synonymous_variant,p.%3D,ENST00000428931,;	389	40	57	SUCCESS
FLAD1	80308	.	GRCh37	1	154962718	154962718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	87	125	0	ENST00000292180.3:c.1349A>T	p.Gln450Leu	p.Q450L	ENST00000292180	NM_025207.4	450	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS1078.1	1349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAGGACA	NONE	.	.	Superfamily_domains:SSF52402,PIRSF_domain:PIRSF036620,Gene3D:3.40.50.620,Pfam_domain:PF01507,hmmpanther:PTHR23293,hmmpanther:PTHR23293:SF9	.	.	ENSP00000292180	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000292180	Transcript	.	.	ENSG00000160688	24671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	.	deleterious(0.02)	.	FAD1_HUMAN	FLAD1	HGNC	Q5T196_HUMAN,Q5T190_HUMAN	.	UPI00000735B2	SNV	FLAD1,missense_variant,p.Gln353Leu,ENST00000315144,;FLAD1,missense_variant,p.Gln450Leu,ENST00000368433,;FLAD1,missense_variant,p.Arg302Trp,ENST00000405236,;FLAD1,missense_variant,p.Gln353Leu,ENST00000368432,;FLAD1,missense_variant,p.Arg134Trp,ENST00000295530,;FLAD1,missense_variant,p.Gln450Leu,ENST00000292180,;FLAD1,5_prime_UTR_variant,,ENST00000368428,;LENEP,upstream_gene_variant,,ENST00000392487,;FLAD1,downstream_gene_variant,,ENST00000368431,;FLAD1,non_coding_transcript_exon_variant,,ENST00000489992,;FLAD1,non_coding_transcript_exon_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000487371,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000481758,;LENEP,upstream_gene_variant,,ENST00000368427,;	1671	125	199	SUCCESS
TBX19	9095	.	GRCh37	1	168250458	168250458	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	47	162	0	ENST00000367821.3:c.130A>G	p.Ile44Val	p.I44V	ENST00000367821	NM_005149.2	44	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1272.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCATCCTG	NONE	.	.	hmmpanther:PTHR11267:SF16,hmmpanther:PTHR11267,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000356795	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000367821	Transcript	.	.	ENSG00000143178	11596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.61)	.	TBX19_HUMAN	TBX19	HGNC	.	.	UPI000003176C	SNV	TBX19,missense_variant,p.Ile44Val,ENST00000367821,;	181	162	215	SUCCESS
FMO2	2327	.	GRCh37	1	171176859	171176859	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	294	90	259	0	ENST00000209929.7:c.1186T>C		p.X396_splice	ENST00000209929		396	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1293.1	1186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCTTGTGT	NONE	.	.	hmmpanther:PTHR23023:SF84,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000405905	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000441535	Transcript	.	.	ENSG00000094963	3770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMO2_HUMAN	FMO2	HGNC	B4E2Q9_HUMAN	.	UPI000013C672	SNV	FMO2,synonymous_variant,p.%3D,ENST00000441535,;FMO2,synonymous_variant,p.%3D,ENST00000209929,;RP1-127D3.4,intron_variant,,ENST00000445909,;RP1-127D3.4,intron_variant,,ENST00000445290,;RP1-127D3.4,intron_variant,,ENST00000422841,;FMO2,splice_region_variant,,ENST00000529935,;FMO2,non_coding_transcript_exon_variant,,ENST00000488431,;FMO2,downstream_gene_variant,,ENST00000489354,;	1303	259	384	SUCCESS
RFWD2	0	.	GRCh37	1	176176050	176176050	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs982005070	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	9	0	ENST00000367669.3:c.65C>T	p.Ser22Phe	p.S22F	ENST00000367669	NM_022457.5	22	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS30944.1	65	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGGAGGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000356641	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.Ser22Phe,ENST00000308769,;RFWD2,missense_variant,p.Ser22Phe,ENST00000367669,;RFWD2,upstream_gene_variant,,ENST00000498306,;RP11-195C7.1,upstream_gene_variant,,ENST00000456125,;RFWD2,missense_variant,p.Ser22Phe,ENST00000474194,;RFWD2,upstream_gene_variant,,ENST00000367667,;RFWD2,upstream_gene_variant,,ENST00000491600,;	580	9	18	SUCCESS
PAPPA2	60676	.	GRCh37	1	176564000	176564000	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	36	98	0	ENST00000367662.3:c.1260T>C	p.Arg420=	p.R420=	ENST00000367662	NM_020318.2	420	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS41438.1	1260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGTGGACA	NONE	.	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325,Pfam_domain:PF13385,Gene3D:2.60.120.200,SMART_domains:SM00560,Superfamily_domains:SSF49899	.	.	ENSP00000356634	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,synonymous_variant,p.%3D,ENST00000367661,;PAPPA2,synonymous_variant,p.%3D,ENST00000367662,;	2424	98	149	SUCCESS
EMC1	23065	.	GRCh37	1	19557403	19557403	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763793904	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	91	0	ENST00000477853.1:c.1999C>A	p.Pro667Thr	p.P667T	ENST00000477853	NM_001271427.1	667	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS190.1	1999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGGGCAA	NONE	.	.	hmmpanther:PTHR21573,hmmpanther:PTHR21573:SF0	.	.	ENSP00000420608	.	17/23	.	.	.	.	.	.	.	.	rs763793904	17/23	PASS	ENST00000477853	Transcript	.	.	ENSG00000127463	28957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.05)	.	EMC1_HUMAN	EMC1	HGNC	.	.	UPI0000070A23	SNV	EMC1,missense_variant,p.Pro645Thr,ENST00000375208,;EMC1,missense_variant,p.Pro666Thr,ENST00000375199,;EMC1,missense_variant,p.Pro667Thr,ENST00000477853,;RP1-43E13.2,intron_variant,,ENST00000437898,;EMC1,upstream_gene_variant,,ENST00000494770,;	2042	91	31	SUCCESS
CDK18	5129	.	GRCh37	1	205493366	205493366	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	108	181	0	ENST00000506784.1:c.370A>G	p.Ser124Gly	p.S124G	ENST00000506784		124	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS1454.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCAGCAAG	NONE	.	.	.	.	.	ENSP00000423665	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000506784	Transcript	.	.	ENSG00000117266	8751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	deleterious(0.01)	.	CDK18_HUMAN	CDK18	HGNC	Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN	.	UPI000035030C	SNV	CDK18,missense_variant,p.Ser5Gly,ENST00000478560,;CDK18,missense_variant,p.Ser94Gly,ENST00000360066,;CDK18,missense_variant,p.Ser124Gly,ENST00000506784,;CDK18,missense_variant,p.Ser103Gly,ENST00000443813,;CDK18,missense_variant,p.Ser124Gly,ENST00000419301,;CDK18,missense_variant,p.Ser35Gly,ENST00000506215,;CDK18,missense_variant,p.Ser94Gly,ENST00000429964,;CDK18,non_coding_transcript_exon_variant,,ENST00000505932,;CDK18,intron_variant,,ENST00000509056,;CDK18,upstream_gene_variant,,ENST00000484080,;CDK18,upstream_gene_variant,,ENST00000506489,;CDK18,downstream_gene_variant,,ENST00000507067,;CDK18,upstream_gene_variant,,ENST00000515514,;CDK18,downstream_gene_variant,,ENST00000507240,;CDK18,upstream_gene_variant,,ENST00000468954,;CDK18,upstream_gene_variant,,ENST00000512008,;CDK18,3_prime_UTR_variant,,ENST00000462976,;CDK18,3_prime_UTR_variant,,ENST00000504648,;CDK18,3_prime_UTR_variant,,ENST00000512922,;CDK18,3_prime_UTR_variant,,ENST00000515494,;CDK18,non_coding_transcript_exon_variant,,ENST00000476153,;CDK18,upstream_gene_variant,,ENST00000489617,;CDK18,upstream_gene_variant,,ENST00000504162,;	590	181	243	SUCCESS
TGFB2	7042	.	GRCh37	1	218578606	218578606	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	28	127	0	ENST00000366930.4:c.442G>C	p.Glu148Gln	p.E148Q	ENST00000366930	NM_003238.3	148	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS44318.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGAGTTC	NONE	.	.	PIRSF_domain:PIRSF001787,Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141	.	.	ENSP00000355896	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000366929	Transcript	.	.	ENSG00000092969	11768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.401)	.	deleterious(0.05)	.	TGFB2_HUMAN	TGFB2	HGNC	.	.	UPI000016B0C1	SNV	TGFB2,missense_variant,p.Glu176Gln,ENST00000366929,;TGFB2,missense_variant,p.Glu148Gln,ENST00000366930,;TGFB2,non_coding_transcript_exon_variant,,ENST00000488793,;	993	127	148	SUCCESS
ITPKB	3707	.	GRCh37	1	226923826	226923826	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	13	78	0	ENST00000272117.3:c.1334del	p.Gly445GlufsTer44	p.G445Efs*44	ENST00000272117		445	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS1555.1	1334	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCCTCCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12400:SF4,hmmpanther:PTHR12400	.	.	ENSP00000411152	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	deletion	ITPKB,frameshift_variant,p.Gly445GlufsTer44,ENST00000366784,;ITPKB,frameshift_variant,p.Gly445GlufsTer44,ENST00000272117,;ITPKB,frameshift_variant,p.Gly445GlufsTer44,ENST00000429204,;	1662	78	94	SUCCESS
KIF26B	55083	.	GRCh37	1	245862336	245862336	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs367835473	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	62	93	0	ENST00000407071.2:c.6175G>C	p.Glu2059Gln	p.E2059Q	ENST00000407071	NM_018012.3	2059	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS44342.1	6175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGAATGT	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	14/15	.	.	.	.	.	.	.	.	rs367835473	14/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.46)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Glu2059Gln,ENST00000407071,;KIF26B,missense_variant,p.Glu1678Gln,ENST00000366518,;	6615	93	138	SUCCESS
OR2C3	81472	.	GRCh37	1	247695293	247695293	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	81	270	1	ENST00000366487.3:c.521G>A	p.Cys174Tyr	p.C174Y	ENST00000366487	NM_198074.4	174	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS1634.2	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCAATTG	BUFFER|p.G171G|c.513G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF117,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000355443	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366487	Transcript	.	.	ENSG00000196242	15005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.01)	.	OR2C3_HUMAN	OR2C3	HGNC	.	.	UPI0000061EBD	SNV	OR2C3,missense_variant,p.Cys174Tyr,ENST00000366487,;GCSAML,intron_variant,,ENST00000527084,;GCSAML,intron_variant,,ENST00000527541,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000366489,;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000366490,;GCSAML,intron_variant,,ENST00000366491,;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000531662,;	883	271	324	SUCCESS
BPIFA2	140683	.	GRCh37	20	31760750	31760750	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs542770426	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	95	0	ENST00000253362.2:c.170A>G	p.Lys57Arg	p.K57R	ENST00000253362		57	aAa/aGa	0	.	G:0	.	G:0	.	G	K/R	protein_coding	YES	CCDS13214.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGAAACTGA	NONE	by1000G	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF6	G:0.001	.	ENSP00000253362	G:0	3/9	.	.	.	.	.	.	.	.	rs542770426	3/9	PASS	ENST00000253362	Transcript	.	G:0.0002	ENSG00000131050	16203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	G:0	deleterious(0.01)	.	BPIA2_HUMAN	BPIFA2	HGNC	.	.	UPI00000361E3	SNV	BPIFA2,missense_variant,p.Lys57Arg,ENST00000354932,;BPIFA2,missense_variant,p.Lys57Arg,ENST00000253362,;	316	95	79	SUCCESS
DLGAP4	22839	.	GRCh37	20	35060202	35060202	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374922768	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	90	233	0	ENST00000339266.5:c.82G>A	p.Asp28Asn	p.D28N	ENST00000339266		28	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS13274.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGACCGC	NONE	.	.	hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353	.	.	ENSP00000363023	.	3/13	.	.	.	.	.	.	.	.	rs374922768,COSM4098000	3/13	PASS	ENST00000373913	Transcript	.	.	ENSG00000080845	24476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.983)	.	tolerated(0.1)	0,1	DLGP4_HUMAN	DLGAP4	HGNC	.	.	UPI000013D34B	SNV	DLGAP4,missense_variant,p.Asp28Asn,ENST00000401952,;DLGAP4,missense_variant,p.Asp28Asn,ENST00000373907,;DLGAP4,missense_variant,p.Asp28Asn,ENST00000373913,;DLGAP4,missense_variant,p.Asp28Asn,ENST00000339266,;	562	233	182	SUCCESS
NCAM2	4685	.	GRCh37	21	22782741	22782741	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	90	298	0	ENST00000400546.1:c.1343A>G	p.Asn448Ser	p.N448S	ENST00000400546	NM_004540.3	448	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42910.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAATTTAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383392	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious(0.02)	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,missense_variant,p.Asn448Ser,ENST00000400546,;NCAM2,missense_variant,p.Asn306Ser,ENST00000284894,;	1592	299	231	SUCCESS
HIRA	7290	.	GRCh37	22	19418983	19418983	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	95	1	ENST00000263208.5:c.17C>T	p.Pro6Leu	p.P6L	ENST00000263208	NM_003325.3	6	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13759.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGGCTTC	NONE	.	.	hmmpanther:PTHR13831:SF0,hmmpanther:PTHR13831,SMART_domains:SM00320	.	.	ENSP00000263208	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000263208	Transcript	.	.	ENSG00000100084	4916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	deleterious(0.01)	.	HIRA_HUMAN	HIRA	HGNC	F5H4M2_HUMAN	.	UPI0000074373	SNV	HIRA,missense_variant,p.Pro6Leu,ENST00000263208,;HIRA,missense_variant,p.Pro6Leu,ENST00000340170,;HIRA,intron_variant,,ENST00000541063,;HIRA,intron_variant,,ENST00000546308,;MRPL40,upstream_gene_variant,,ENST00000333130,;HIRA,upstream_gene_variant,,ENST00000464189,;MRPL40,upstream_gene_variant,,ENST00000471259,;MRPL40,upstream_gene_variant,,ENST00000443660,;HIRA,intron_variant,,ENST00000452818,;C22orf39,intron_variant,,ENST00000509549,;	274	96	81	SUCCESS
MAP4K4	9448	.	GRCh37	2	102448183	102448183	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	151	1	ENST00000347699.4:c.509T>C	p.Val170Ala	p.V170A	ENST00000347699	NM_145687.3	170	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS56130.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGTTGACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF225,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000314363	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000347699	Transcript	.	.	ENSG00000071054	6866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	M4K4_HUMAN	MAP4K4	HGNC	Q53TW0_HUMAN,E7ETN6_HUMAN	.	UPI00000747E2	SNV	MAP4K4,missense_variant,p.Val170Ala,ENST00000347699,;MAP4K4,missense_variant,p.Val170Ala,ENST00000425019,;MAP4K4,missense_variant,p.Val170Ala,ENST00000350198,;MAP4K4,missense_variant,p.Val170Ala,ENST00000413150,;MAP4K4,missense_variant,p.Val150Ala,ENST00000350878,;MAP4K4,missense_variant,p.Val170Ala,ENST00000324219,;MAP4K4,missense_variant,p.Val132Ala,ENST00000417294,;MAP4K4,intron_variant,,ENST00000456652,;MAP4K4,intron_variant,,ENST00000302217,;MAP4K4,splice_region_variant,,ENST00000496989,;MAP4K4,splice_region_variant,,ENST00000476609,;MAP4K4,downstream_gene_variant,,ENST00000489490,;	509	152	92	SUCCESS
PQLC3	0	.	GRCh37	2	11300609	11300609	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779703202	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	69	0	ENST00000295083.3:c.161G>T	p.Arg54Leu	p.R54L	ENST00000295083	NM_152391.3	54	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1679.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCGGTACC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12226,hmmpanther:PTHR12226:SF3,Pfam_domain:PF04193,PIRSF_domain:PIRSF023381	.	.	ENSP00000295083	.	2/7	.	.	.	.	.	.	.	.	rs779703202	2/7	PASS	ENST00000295083	Transcript	.	.	ENSG00000162976	28503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	tolerated(0.2)	.	PQLC3_HUMAN	PQLC3	HGNC	.	.	UPI0000070DA0	SNV	PQLC3,missense_variant,p.Arg34Leu,ENST00000428481,;PQLC3,missense_variant,p.Arg77Leu,ENST00000445402,;PQLC3,missense_variant,p.Arg54Leu,ENST00000295083,;PQLC3,missense_variant,p.Arg54Leu,ENST00000441908,;PQLC3,missense_variant,p.Arg54Leu,ENST00000402361,;PQLC3,non_coding_transcript_exon_variant,,ENST00000476787,;PQLC3,missense_variant,p.Arg54Leu,ENST00000445921,;PQLC3,non_coding_transcript_exon_variant,,ENST00000496444,;PQLC3,non_coding_transcript_exon_variant,,ENST00000464700,;	336	69	49	SUCCESS
PROC	5624	.	GRCh37	2	128184696	128184696	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	50	0	ENST00000234071.3:c.694T>A	p.Ser232Thr	p.S232T	ENST00000234071	NM_000312.3	232	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS2145.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTCAAAG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24278:SF0,hmmpanther:PTHR24278,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000234071	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000234071	Transcript	.	.	ENSG00000115718	9451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.08)	.	PROC_HUMAN	PROC	HGNC	Q8J004_HUMAN,Q8J003_HUMAN,Q6V7X9_HUMAN,E7EVH6_HUMAN,E7EU72_HUMAN,B4DPC8_HUMAN	.	UPI0000001646	SNV	PROC,missense_variant,p.Ser266Thr,ENST00000409048,;PROC,missense_variant,p.Ser287Thr,ENST00000453608,;PROC,missense_variant,p.Ser232Thr,ENST00000422777,;PROC,missense_variant,p.Ser232Thr,ENST00000234071,;PROC,intron_variant,,ENST00000402125,;PROC,downstream_gene_variant,,ENST00000429925,;PROC,downstream_gene_variant,,ENST00000427769,;PROC,downstream_gene_variant,,ENST00000442644,;MIR4783,upstream_gene_variant,,ENST00000580343,;PROC,downstream_gene_variant,,ENST00000464089,;PROC,downstream_gene_variant,,ENST00000419985,;PROC,downstream_gene_variant,,ENST00000474030,;PROC,downstream_gene_variant,,ENST00000431364,;	781	50	48	SUCCESS
TTN	7273	.	GRCh37	2	179596477	179596477	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	89	0	ENST00000591111.1:c.16174T>C	p.Cys5392Arg	p.C5392R	ENST00000591111		5392	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS59435.1	17125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACACTGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	58/363	.	.	.	.	.	.	.	.	.	58/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Cys4465Arg,ENST00000342992,;TTN,missense_variant,p.Cys5709Arg,ENST00000589042,;TTN,missense_variant,p.Cys5392Arg,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	17350	89	71	SUCCESS
NBEAL1	65065	.	GRCh37	2	204031020	204031020	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	52	204	0	ENST00000449802.1:c.5776G>A	p.Gly1926Arg	p.G1926R	ENST00000449802	NM_001114132.1	1926	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46495.1	5776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGGTGAG	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Pfam_domain:PF14844,Gene3D:1t77A01,Superfamily_domains:SSF50729	.	.	ENSP00000399903	.	36/55	.	.	.	.	.	.	.	.	.	36/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	deleterious(0)	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,missense_variant,p.Gly1926Arg,ENST00000449802,;NBEAL1,upstream_gene_variant,,ENST00000414576,;	6109	204	202	SUCCESS
COL6A3	1293	.	GRCh37	2	238253721	238253721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	83	214	0	ENST00000295550.4:c.7142A>G	p.Gln2381Arg	p.Q2381R	ENST00000295550	NM_004369.3	2381	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS33412.1	7142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTTGGATG	NONE	.	.	hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83	.	.	ENSP00000295550	.	34/44	.	.	.	.	.	.	.	.	.	34/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Gln1774Arg,ENST00000472056,;COL6A3,missense_variant,p.Gln2175Arg,ENST00000409809,;COL6A3,missense_variant,p.Gln2381Arg,ENST00000295550,;COL6A3,missense_variant,p.Gln2180Arg,ENST00000347401,;COL6A3,missense_variant,p.Gln2181Arg,ENST00000346358,;COL6A3,missense_variant,p.Gln2175Arg,ENST00000353578,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	7595	214	173	SUCCESS
SEMA4F	10505	.	GRCh37	2	74900921	74900921	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747881367	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	67	0	ENST00000357877.2:c.788G>A	p.Arg263His	p.R263H	ENST00000357877	NM_004263.4	263	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS1955.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCGCATTA	NONE	byFrequency	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,PROSITE_profiles:PS51004	.	.	ENSP00000350547	.	7/14	.	.	.	.	.	.	.	.	rs747881367,COSM443244	7/14	PASS	ENST00000357877	Transcript	.	.	ENSG00000135622	10734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.24)	0,1	SEM4F_HUMAN	SEMA4F	HGNC	.	.	UPI0000001BF5	SNV	SEMA4F,missense_variant,p.Arg263His,ENST00000357877,;SEMA4F,intron_variant,,ENST00000453930,;SEMA4F,intron_variant,,ENST00000339773,;SEMA4F,downstream_gene_variant,,ENST00000434486,;SEMA4F,upstream_gene_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000458114,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,intron_variant,,ENST00000420077,;	937	67	55	SUCCESS
TRAT1	50852	.	GRCh37	3	108572654	108572654	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753534244	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	100	366	0	ENST00000295756.6:c.491A>G	p.Glu164Gly	p.E164G	ENST00000295756	NM_016388.2	164	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33813.1	491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGAGGAAA	NONE	.	.	hmmpanther:PTHR15951	.	.	ENSP00000295756	.	6/6	.	.	.	.	.	.	.	.	rs753534244	6/6	PASS	ENST00000295756	Transcript	.	.	ENSG00000163519	30698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	TRAT1_HUMAN	TRAT1	HGNC	.	.	UPI00001147D3	SNV	TRAT1,missense_variant,p.Glu164Gly,ENST00000295756,;TRAT1,missense_variant,p.Glu127Gly,ENST00000426646,;	721	366	262	SUCCESS
FGD5	152273	.	GRCh37	3	14861536	14861536	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	73	0	ENST00000285046.5:c.958T>A	p.Ser320Thr	p.S320T	ENST00000285046	NM_152536.3	320	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS46767.1	958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGTCCGCC	NONE	.	.	.	.	.	ENSP00000285046	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000285046	Transcript	.	.	ENSG00000154783	19117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.4)	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,missense_variant,p.Ser320Thr,ENST00000285046,;FGD5,missense_variant,p.Ser79Thr,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	1068	73	43	SUCCESS
KCNMB3	27094	.	GRCh37	3	178962390	178962390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	15	205	1	ENST00000314235.5:c.352C>T	p.His118Tyr	p.H118Y	ENST00000314235	NM_014407.3	118	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS3226.1	352	MUTECT|MUSE	.	ACCGTGGCAGT	NONE	.	.	hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF4,Pfam_domain:PF03185	.	.	ENSP00000319370	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314235	Transcript	.	.	ENSG00000171121	6287	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.094)	.	tolerated(0.16)	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA98	SNV	KCNMB3,missense_variant,p.His116Tyr,ENST00000349697,;KCNMB3,missense_variant,p.His118Tyr,ENST00000314235,;KCNMB3,missense_variant,p.His116Tyr,ENST00000497599,;KCNMB3,missense_variant,p.His114Tyr,ENST00000392685,;KCNMB3,missense_variant,p.His96Tyr,ENST00000485523,;PIK3CA,downstream_gene_variant,,ENST00000263967,;KCNMB3,upstream_gene_variant,,ENST00000486944,;KCNMB3,missense_variant,p.His96Tyr,ENST00000392686,;	864	206	198	SUCCESS
SHISA5	51246	.	GRCh37	3	48520585	48520585	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs781661394	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	54	0	ENST00000296444.2:c.314+1G>A		p.X105_splice	ENST00000296444	NM_001272065.1	105		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2770.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCCTGA	NONE	.	.	.	.	.	ENSP00000296444	.	.	.	.	.	.	.	.	.	.	rs781661394	.	PASS	ENST00000296444	Transcript	.	.	ENSG00000164054	30376	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHSA5_HUMAN	SHISA5	HGNC	C9IZ46_HUMAN,B7Z6Z2_HUMAN	.	UPI000003B0C1	SNV	SHISA5,splice_donor_variant,,ENST00000417841,;SHISA5,splice_donor_variant,,ENST00000296444,;SHISA5,splice_donor_variant,,ENST00000442747,;SHISA5,splice_donor_variant,,ENST00000443308,;SHISA5,splice_donor_variant,,ENST00000444115,;SHISA5,splice_donor_variant,,ENST00000486344,;SHISA5,splice_donor_variant,,ENST00000424965,;SHISA5,splice_donor_variant,,ENST00000417962,;SHISA5,splice_donor_variant,,ENST00000415268,;	.	54	50	SUCCESS
ROBO2	6092	.	GRCh37	3	77147199	77147199	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	106	0	ENST00000461745.1:c.96G>A	p.Arg32=	p.R32=	ENST00000461745	NM_002942.4	32	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54609.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGGATTGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000417335	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,synonymous_variant,p.%3D,ENST00000332191,;ROBO2,synonymous_variant,p.%3D,ENST00000602589,;ROBO2,synonymous_variant,p.%3D,ENST00000461745,;ROBO2,synonymous_variant,p.%3D,ENST00000487694,;ROBO2,non_coding_transcript_exon_variant,,ENST00000475034,;ROBO2,synonymous_variant,p.%3D,ENST00000473767,;	423	106	78	SUCCESS
GABRR3	200959	.	GRCh37	3	97705698	97705698	+	synonymous_variant	Silent	SNP	C	C	T	rs1252352597	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	15	185	0	ENST00000472788.1:c.1233G>A	p.Ser411=	p.S411=	ENST00000472788	NM_001105580.2	411	tcG/tcA	0	.	.	.	.	.	T	S	polymorphic_pseudogene	.	.	1233	RADIA|MUTECT|MUSE|VARSCANS	.	CATATCGATTT	CODON|p.S91L|c.272C>T|4	.	.	.	.	.	ENSP00000420790	.	9/9	.	.	.	.	.	.	.	.	COSM4120711,COSM4120710	9/9	PASS	ENST00000472788	Transcript	.	.	ENSG00000183185	17969	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	.	GABRR3	HGNC	.	.	.	SNV	GABRR3,synonymous_variant,p.%3D,ENST00000472788,;	1235	185	144	SUCCESS
TACR3	6870	.	GRCh37	4	104640792	104640792	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	54	0	ENST00000304883.2:c.41del	p.Gly14ValfsTer9	p.G14Vfs*9	ENST00000304883	NM_001059.2	14	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS3664.1	41	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCCACCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Prints_domain:PR01026	.	.	ENSP00000303325	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	deletion	TACR3,frameshift_variant,p.Gly14ValfsTer9,ENST00000304883,;	182	54	62	SUCCESS
GSTCD	79807	.	GRCh37	4	106766631	106766631	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750695972	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	72	0	ENST00000360505.5:c.1799G>T	p.Arg600Leu	p.R600L	ENST00000360505	NM_001031720.3	600	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43257.1	1799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCGAGCAA	NONE	.	.	hmmpanther:PTHR13369:SF0,hmmpanther:PTHR13369	.	.	ENSP00000422354	.	12/12	.	.	.	.	.	.	.	.	rs750695972	12/12	PASS	ENST00000515279	Transcript	.	.	ENSG00000138780	25806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GSTCD_HUMAN	GSTCD	HGNC	D6RCC9_HUMAN,D6RCC4_HUMAN,D6R949_HUMAN	.	UPI0000141636	SNV	GSTCD,missense_variant,p.Arg600Leu,ENST00000360505,;GSTCD,missense_variant,p.Arg600Leu,ENST00000394728,;GSTCD,missense_variant,p.Arg600Leu,ENST00000515279,;GSTCD,missense_variant,p.Arg513Leu,ENST00000394730,;INTS12,intron_variant,,ENST00000510876,;GSTCD,non_coding_transcript_exon_variant,,ENST00000515255,;	2019	72	67	SUCCESS
SORBS2	8470	.	GRCh37	4	186544464	186544464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	51	0	ENST00000284776.7:c.2107C>A	p.Pro703Thr	p.P703T	ENST00000284776	NM_021069.4	703	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59482.1	2407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGACTGA	NONE	.	.	hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122	.	.	ENSP00000347852	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000355634	Transcript	.	.	ENSG00000154556	24098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SRBS2_HUMAN	SORBS2	HGNC	C9JZ60_HUMAN,C9JN77_HUMAN,C9JL62_HUMAN,C9JI79_HUMAN,C9JDX2_HUMAN,C9JBR8_HUMAN,C9JBB0_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4Z9_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9J372_HUMAN,C9IZT7_HUMAN,C9IZ89_HUMAN	.	UPI000198C7F0	SNV	SORBS2,missense_variant,p.Pro607Thr,ENST00000418609,;SORBS2,missense_variant,p.Pro703Thr,ENST00000431808,;SORBS2,missense_variant,p.Pro703Thr,ENST00000284776,;SORBS2,missense_variant,p.Pro803Thr,ENST00000355634,;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000448662,;SORBS2,intron_variant,,ENST00000449407,;SORBS2,intron_variant,,ENST00000437304,;SORBS2,intron_variant,,ENST00000451974,;SORBS2,intron_variant,,ENST00000438278,;SORBS2,intron_variant,,ENST00000393528,;SORBS2,intron_variant,,ENST00000319471,;SORBS2,downstream_gene_variant,,ENST00000445625,;SORBS2,intron_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000487836,;SORBS2,downstream_gene_variant,,ENST00000495932,;SORBS2,downstream_gene_variant,,ENST00000487184,;	3121	51	41	SUCCESS
WDR19	57728	.	GRCh37	4	39280267	39280267	+	synonymous_variant	Silent	SNP	G	G	C	rs371200402	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	63	175	0	ENST00000399820.3:c.4026G>C	p.Leu1342=	p.L1342=	ENST00000399820	NM_025132.3	1342	ctG/ctC	0	A:0	.	.	.	.	C	L	protein_coding	YES	CCDS47042.1	4026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGTGATT	NONE	byCluster	.	hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	.	A:0.0001	ENSP00000382717	.	36/37	.	.	.	.	.	.	.	.	rs371200402	36/37	PASS	ENST00000399820	Transcript	1	.	ENSG00000157796	18340	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,synonymous_variant,p.%3D,ENST00000288634,;WDR19,synonymous_variant,p.%3D,ENST00000399820,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512534,;WDR19,non_coding_transcript_exon_variant,,ENST00000512588,;WDR19,non_coding_transcript_exon_variant,,ENST00000510315,;WDR19,non_coding_transcript_exon_variant,,ENST00000503733,;WDR19,downstream_gene_variant,,ENST00000512095,;	4180	175	143	SUCCESS
BEND4	389206	.	GRCh37	4	42154069	42154069	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	103	0	ENST00000502486.1:c.92C>A	p.Pro31His	p.P31H	ENST00000502486	NM_207406.3	31	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47048.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGGAAC	NONE	.	.	.	.	.	ENSP00000421169	.	2/6	.	.	.	.	.	.	.	.	COSM1618840	2/6	PASS	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.893)	.	deleterious_low_confidence(0)	1	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,missense_variant,p.Pro27His,ENST00000504360,;BEND4,missense_variant,p.Pro31His,ENST00000502486,;	672	103	73	SUCCESS
STK32B	55351	.	GRCh37	4	5399957	5399957	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	81	0	ENST00000282908.5:c.458T>C	p.Leu153Pro	p.L153P	ENST00000282908	NM_018401.1	153	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS3380.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTGCTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000282908	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000282908	Transcript	.	.	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.Leu106Pro,ENST00000510398,;STK32B,missense_variant,p.Leu106Pro,ENST00000512636,;STK32B,missense_variant,p.Leu153Pro,ENST00000282908,;STK32B,non_coding_transcript_exon_variant,,ENST00000505508,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	880	81	60	SUCCESS
SDAD1	55153	.	GRCh37	4	76903159	76903159	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	74	1	ENST00000356260.5:c.122A>G	p.Asn41Ser	p.N41S	ENST00000356260	NM_018115.2	41	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS3573.2	122	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCACATTGGAT	NONE	.	.	hmmpanther:PTHR12730,hmmpanther:PTHR12730:SF0	.	.	ENSP00000348596	.	2/22	.	.	.	.	.	.	.	.	COSM1057613	2/22	PASS	ENST00000356260	Transcript	.	.	ENSG00000198301	25537	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.011)	.	tolerated(0.42)	1	SDA1_HUMAN	SDAD1	HGNC	.	.	UPI000020B02A	SNV	SDAD1,missense_variant,p.Asn41Ser,ENST00000395711,;SDAD1,missense_variant,p.Asn41Ser,ENST00000356260,;RP11-630D6.5,intron_variant,,ENST00000501239,;SDAD1,non_coding_transcript_exon_variant,,ENST00000504975,;SDAD1,upstream_gene_variant,,ENST00000515836,;SDAD1,missense_variant,p.Asn16Ser,ENST00000514710,;SDAD1,missense_variant,p.Asn41Ser,ENST00000503411,;SDAD1,missense_variant,p.Asn41Ser,ENST00000395710,;	241	76	48	SUCCESS
SLC23A1	9963	.	GRCh37	5	138718987	138718987	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	68	0	ENST00000348729.3:c.-45C>T		p.*15*	ENST00000348729	NM_005847.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGACTTG	NONE	.	6	.	.	.	ENSP00000302851	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353963	Transcript	.	.	ENSG00000170482	10974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S23A1_HUMAN	SLC23A1	HGNC	.	.	UPI000020C6FE	SNV	SLC23A1,5_prime_UTR_variant,,ENST00000348729,;SLC23A1,intron_variant,,ENST00000508270,;MZB1,downstream_gene_variant,,ENST00000412103,;SLC23A1,upstream_gene_variant,,ENST00000504513,;SLC23A1,upstream_gene_variant,,ENST00000353963,;MZB1,downstream_gene_variant,,ENST00000302125,;SLC23A1,non_coding_transcript_exon_variant,,ENST00000503919,;MZB1,downstream_gene_variant,,ENST00000503351,;MZB1,downstream_gene_variant,,ENST00000513389,;MZB1,downstream_gene_variant,,ENST00000511979,;MZB1,downstream_gene_variant,,ENST00000417694,;SLC23A1,upstream_gene_variant,,ENST00000502863,;SLC23A1,upstream_gene_variant,,ENST00000506512,;MZB1,downstream_gene_variant,,ENST00000503120,;MZB1,downstream_gene_variant,,ENST00000503481,;	.	68	61	SUCCESS
PCDHB12	56124	.	GRCh37	5	140589288	140589288	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	41	123	0	ENST00000239450.2:c.809A>T	p.Asp270Val	p.D270V	ENST00000239450	NM_018932.3	270	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS4254.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGACTCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,missense_variant,p.Asp270Val,ENST00000239450,;PCDHB12,intron_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	998	123	108	SUCCESS
PCDH1	5097	.	GRCh37	5	141248468	141248468	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752422297	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	70	168	0	ENST00000394536.3:c.569C>T	p.Pro190Leu	p.P190L	ENST00000394536	NM_002587.4	190	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4267.1	569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGGGATG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000287008	.	2/5	.	.	.	.	.	.	.	.	rs752422297	2/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,missense_variant,p.Pro168Leu,ENST00000536585,;PCDH1,missense_variant,p.Pro190Leu,ENST00000456271,;PCDH1,missense_variant,p.Pro190Leu,ENST00000287008,;PCDH1,missense_variant,p.Pro190Leu,ENST00000503492,;PCDH1,missense_variant,p.Pro190Leu,ENST00000394536,;PCDH1,missense_variant,p.Pro201Leu,ENST00000357517,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,upstream_gene_variant,,ENST00000511044,;PCDH1,upstream_gene_variant,,ENST00000505937,;PCDH1,upstream_gene_variant,,ENST00000515351,;	717	168	164	SUCCESS
AACSP1	729522	.	GRCh37	5	178202325	178202325	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	10	0	ENST00000503486.2:n.795A>G		p.*265*	ENST00000503486				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CGCCATGAGCC	NONE	.	.	.	.	.	.	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000503486	Transcript	.	.	ENSG00000250420	18226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AACSP1	HGNC	.	.	.	SNV	AACSP1,non_coding_transcript_exon_variant,,ENST00000503486,;AACSP1,non_coding_transcript_exon_variant,,ENST00000521412,;AACSP1,non_coding_transcript_exon_variant,,ENST00000536654,;	795	10	11	SUCCESS
RAI14	26064	.	GRCh37	5	34823606	34823607	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	rs1561088297	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	131	49	135	0	ENST00000265109.3:c.1664_1665del	p.Glu555ValfsTer15	p.E555Vfs*15	ENST00000265109	NM_015577.2	553	gtGAga/gtga	0	.	.	.	.	.	-	VR/VX	protein_coding	YES	CCDS54839.1	1668-1669	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAGTGAGAGAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24129	.	.	ENSP00000427123	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	deletion	RAI14,frameshift_variant,p.Glu547ValfsTer15,ENST00000506376,;RAI14,frameshift_variant,p.Glu555ValfsTer15,ENST00000265109,;RAI14,frameshift_variant,p.Glu548ValfsTer15,ENST00000397449,;RAI14,frameshift_variant,p.Glu558ValfsTer15,ENST00000515799,;RAI14,frameshift_variant,p.Glu555ValfsTer15,ENST00000428746,;RAI14,frameshift_variant,p.Glu526ValfsTer15,ENST00000512629,;RAI14,frameshift_variant,p.Glu555ValfsTer15,ENST00000503673,;RAI14,upstream_gene_variant,,ENST00000513772,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;	2160-2161	135	180	SUCCESS
GDNF	2668	.	GRCh37	5	37834855	37834855	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	42	173	0	ENST00000326524.2:c.44del	p.His15ProfsTer33	p.H15Pfs*33	ENST00000326524	NM_000514.3	15	cAc/cc	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS54845.1	95	VARSCANI*|PINDEL	.	GCGGTGTGGAGC	NONE	.	.	PIRSF_domain:PIRSF016238,hmmpanther:PTHR12173:SF1,hmmpanther:PTHR12173	.	.	ENSP00000409007	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000427982	Transcript	1	.	ENSG00000168621	4232	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GDNF_HUMAN	GDNF	HGNC	.	.	UPI0000E20965	deletion	GDNF,frameshift_variant,p.His15ProfsTer35,ENST00000502572,;GDNF,frameshift_variant,p.His15ProfsTer35,ENST00000515058,;GDNF,frameshift_variant,p.His15ProfsTer35,ENST00000510177,;GDNF,frameshift_variant,p.His32ProfsTer35,ENST00000381826,;GDNF,frameshift_variant,p.His32ProfsTer33,ENST00000427982,;GDNF,frameshift_variant,p.His15ProfsTer35,ENST00000344622,;GDNF,frameshift_variant,p.His15ProfsTer33,ENST00000326524,;	264	173	196	SUCCESS
MOCS2	4338	.	GRCh37	5	52405238	52405238	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	30	0	ENST00000396954.3:c.-327A>G		p.*109*	ENST00000396954	NM_004531.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3958.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATCTGGG	NONE	.	.	.	.	.	ENSP00000380157	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000396954	Transcript	1	.	ENSG00000164172	7193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOC2B_HUMAN	MOCS2	HGNC	.	.	UPI000000DB29	SNV	MOCS2,5_prime_UTR_variant,,ENST00000396954,;MOCS2,intron_variant,,ENST00000450852,;MOCS2,intron_variant,,ENST00000510818,;MOCS2,intron_variant,,ENST00000361377,;MOCS2,intron_variant,,ENST00000584946,;MOCS2,intron_variant,,ENST00000508922,;MOCS2,intron_variant,,ENST00000527216,;MOCS2,intron_variant,,ENST00000582677,;CTD-2366F13.1,upstream_gene_variant,,ENST00000499459,;CTD-2366F13.1,upstream_gene_variant,,ENST00000512301,;CTD-2366F13.1,upstream_gene_variant,,ENST00000502171,;MOCS2,intron_variant,,ENST00000514553,;MOCS2,upstream_gene_variant,,ENST00000502402,;	352	30	14	SUCCESS
TMEM174	134288	.	GRCh37	5	72469952	72469952	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs556952520	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	113	0	ENST00000296776.5:c.692C>G	p.Ser231Cys	p.S231C	ENST00000296776	NM_153217.2	231	tCt/tGt	0	.	T:0	.	T:0.0014	.	G	S/C	protein_coding	YES	CCDS4018.1	692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCTCCTC	NONE	by1000G	.	hmmpanther:PTHR31020,Pfam_domain:PF15029	T:0	.	ENSP00000296776	T:0	2/2	.	.	.	.	.	.	.	.	rs556952520,COSM1695870	2/2	PASS	ENST00000296776	Transcript	.	T:0.0002	ENSG00000164325	28187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.875)	T:0	deleterious(0.03)	0,1	TM174_HUMAN	TMEM174	HGNC	.	.	UPI0000037779	SNV	TMEM174,missense_variant,p.Ser231Cys,ENST00000296776,;TMEM174,intron_variant,,ENST00000511737,;	741	113	98	SUCCESS
HIVEP1	3096	.	GRCh37	6	12121246	12121246	+	synonymous_variant	Silent	SNP	T	T	C	rs770339091	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	85	0	ENST00000379388.2:c.1218T>C	p.Tyr406=	p.Y406=	ENST00000379388	NM_002114.2	406	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS43426.1	1218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATATTTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233,PROSITE_profiles:PS50157	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	rs770339091	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,synonymous_variant,p.%3D,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	1550	85	79	SUCCESS
EDN1	1906	.	GRCh37	6	12292638	12292638	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	37	0	ENST00000379375.5:c.129A>G	p.Pro43=	p.P43=	ENST00000379375	NM_001955.4	43	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4522.1	129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCACCCTG	NONE	.	.	hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF9	.	.	ENSP00000368683	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000379375	Transcript	.	.	ENSG00000078401	3176	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDN1_HUMAN	EDN1	HGNC	Q6FH53_HUMAN	.	UPI000012A217	SNV	EDN1,synonymous_variant,p.%3D,ENST00000379375,;	396	38	34	SUCCESS
SLC17A3	10786	.	GRCh37	6	25850803	25850803	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	112	0	ENST00000360657.3:c.643T>C	p.Ser215Pro	p.S215P	ENST00000360657		215	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS47385.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGATCTGA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF134,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000380250	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000397060	Transcript	.	.	ENSG00000124564	10931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	NPT4_HUMAN	SLC17A3	HGNC	H0Y9F7_HUMAN	.	UPI0001536779	SNV	SLC17A3,missense_variant,p.Ser215Pro,ENST00000360657,;SLC17A3,missense_variant,p.Ser293Pro,ENST00000397060,;SLC17A3,missense_variant,p.Ser215Pro,ENST00000361703,;SLC17A3,upstream_gene_variant,,ENST00000505420,;SLC17A3,upstream_gene_variant,,ENST00000481949,;SLC17A3,3_prime_UTR_variant,,ENST00000506105,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000503922,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000308453,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000509714,;SLC17A3,downstream_gene_variant,,ENST00000449356,;	987	112	106	SUCCESS
HIST1H1A	0	.	GRCh37	6	26018037	26018037	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs553694004	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	91	0	ENST00000244573.3:c.-77G>A		p.*26*	ENST00000244573	NM_005325.3			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS4569.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCCTATT	NONE	by1000G	.	.	T:0	.	ENSP00000244573	T:0	1/1	.	.	.	.	.	.	.	.	rs553694004	1/1	PASS	ENST00000244573	Transcript	.	T:0.0002	ENSG00000124610	4715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	H11_HUMAN	HIST1H1A	HGNC	.	.	UPI0000001BD8	SNV	HIST1H1A,5_prime_UTR_variant,,ENST00000244573,;HIST1H4A,upstream_gene_variant,,ENST00000359907,;HIST1H3A,upstream_gene_variant,,ENST00000357647,;U91328.22,downstream_gene_variant,,ENST00000608919,;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;	4	91	72	SUCCESS
ZSCAN16	80345	.	GRCh37	6	28093436	28093445	+	frameshift_variant	Frame_Shift_Del	DEL	CAGAATGCCA	CAGAATGCCA	-	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	CAGAATGCCA	CAGAATGCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	171	0	ENST00000340487.4:c.217_226del	p.Glu73ProfsTer6	p.E73Pfs*6	ENST00000340487	NM_025231.1	72	cCAGAATGCCAc/cc	0	.	.	.	.	.	-	PECH/X	protein_coding	YES	CCDS4644.1	215-224	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGGCCAGAATGCCACACCA	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226:SF52,hmmpanther:PTHR23226,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000366527	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000340487	Transcript	.	.	ENSG00000196812	20813	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSC16_HUMAN	ZSCAN16	HGNC	.	.	UPI000013A46E	deletion	ZSCAN16,frameshift_variant,p.Glu73ProfsTer6,ENST00000340487,;ZSCAN16-AS1,non_coding_transcript_exon_variant,,ENST00000600652,;ZSCAN16-AS1,intron_variant,,ENST00000602810,;	364-373	171	119	SUCCESS
PRRT1	80863	.	GRCh37	6	32117406	32117406	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	73	0	ENST00000211413.5:c.652C>A	p.Arg218Ser	p.R218S	ENST00000211413	NM_030651.3	218	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4739.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGCCTCG	NONE	.	.	hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF4,Pfam_domain:PF04505	.	.	ENSP00000211413	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000211413	Transcript	.	.	ENSG00000204314	13943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	deleterious(0.04)	.	PRRT1_HUMAN	PRRT1	HGNC	.	.	UPI000012FFED	SNV	PRRT1,missense_variant,p.Arg218Ser,ENST00000211413,;PRRT1,missense_variant,p.Arg137Ser,ENST00000375150,;PRRT1,missense_variant,p.Arg137Ser,ENST00000375152,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000324816,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PPT2,upstream_gene_variant,,ENST00000361568,;PRRT1,downstream_gene_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000445576,;PPT2,upstream_gene_variant,,ENST00000437001,;PRRT1,non_coding_transcript_exon_variant,,ENST00000467780,;PRRT1,non_coding_transcript_exon_variant,,ENST00000472641,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,downstream_gene_variant,,ENST00000485392,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000494332,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,downstream_gene_variant,,ENST00000486917,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2,upstream_gene_variant,,ENST00000436118,;	777	73	53	SUCCESS
NOTCH4	4855	.	GRCh37	6	32190405	32190405	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765988217	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	27	160	0	ENST00000375023.3:c.334G>A	p.Glu112Lys	p.E112K	ENST00000375023	NM_004557.3	112	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34420.1	334	RADIA|MUTECT	.	TCTCTCACCAG	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2gy5A03,Pfam_domain:PF12661,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000364163	.	3/30	.	.	.	.	.	.	.	.	rs765988217	3/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.19)	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Glu112Lys,ENST00000375023,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000473562,;	473	160	120	SUCCESS
GLP1R	2740	.	GRCh37	6	39048499	39048499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	77	0	ENST00000373256.4:c.1208G>A	p.Cys403Tyr	p.C403Y	ENST00000373256	NM_002062.3	403	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS4839.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGCTTTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,PROSITE_patterns:PS00650,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000362353	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000373256	Transcript	.	.	ENSG00000112164	4324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	GLP1R_HUMAN	GLP1R	HGNC	.	.	UPI0000061F20	SNV	GLP1R,missense_variant,p.Cys403Tyr,ENST00000373256,;	1251	77	65	SUCCESS
GLP1R	2740	.	GRCh37	6	39048500	39048500	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	76	0	ENST00000373256.4:c.1209C>A	p.Cys403Ter	p.C403*	ENST00000373256	NM_002062.3	403	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS4839.1	1209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGCTTTGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,PROSITE_patterns:PS00650,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000362353	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000373256	Transcript	.	.	ENSG00000112164	4324	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLP1R_HUMAN	GLP1R	HGNC	.	.	UPI0000061F20	SNV	GLP1R,stop_gained,p.Cys403Ter,ENST00000373256,;	1252	76	65	SUCCESS
FILIP1	27145	.	GRCh37	6	76023250	76023250	+	synonymous_variant	Silent	SNP	C	C	T	rs147346630	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	106	0	ENST00000237172.7:c.2298G>A	p.Gly766=	p.G766=	ENST00000237172	NM_015687.2	766	ggG/ggA	0	A:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS4984.1	2298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCCCCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	A:0	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	rs147346630	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,synonymous_variant,p.%3D,ENST00000370020,;FILIP1,synonymous_variant,p.%3D,ENST00000393004,;FILIP1,synonymous_variant,p.%3D,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;	2629	106	72	SUCCESS
ELOVL4	6785	.	GRCh37	6	80656928	80656928	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	69	0	ENST00000369816.4:c.69A>G	p.Val23=	p.V23=	ENST00000369816	NM_022726.3	23	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS4992.1	69	MUTECT|MUSE	.	AACTCTACCGT	NONE	.	.	hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF37	.	.	ENSP00000358831	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000369816	Transcript	.	.	ENSG00000118402	14415	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELOV4_HUMAN	ELOVL4	HGNC	.	.	UPI0000049DA1	SNV	ELOVL4,synonymous_variant,p.%3D,ENST00000369816,;	370	69	65	SUCCESS
PODXL	5420	.	GRCh37	7	131195724	131195724	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201501253	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	53	161	0	ENST00000378555.3:c.569G>A	p.Arg190Gln	p.R190Q	ENST00000378555		190	cGa/cAa	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS34755.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCGGGGG	NONE	byCluster|by1000G	.	PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067	T:0	.	ENSP00000367817	T:0	2/9	.	.	.	.	.	.	.	.	rs201501253,COSM3878108,COSM3878109	2/9	PASS	ENST00000378555	Transcript	.	T:0.0002	ENSG00000128567	9171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.009)	T:0	tolerated(0.62)	0,1,1	PODXL_HUMAN	PODXL	HGNC	.	.	UPI000042467C	SNV	PODXL,missense_variant,p.Arg190Gln,ENST00000537928,;PODXL,missense_variant,p.Arg190Gln,ENST00000322985,;PODXL,missense_variant,p.Arg190Gln,ENST00000378555,;PODXL,missense_variant,p.Arg192Gln,ENST00000541194,;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,missense_variant,p.Arg190Gln,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000484346,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;	817	161	149	SUCCESS
KMT2C	58508	.	GRCh37	7	152132847	152132847	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	117	0	ENST00000262189.6:c.25G>A	p.Val9Met	p.V9M	ENST00000262189	NM_170606.2	9	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS5931.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGCTCT	NONE	.	.	.	.	.	ENSP00000262189	.	1/59	.	.	.	.	.	.	.	.	.	1/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Val9Met,ENST00000452749,;KMT2C,missense_variant,p.Val9Met,ENST00000355193,;KMT2C,missense_variant,p.Val9Met,ENST00000262189,;AC005631.1,upstream_gene_variant,,ENST00000408527,;FABP5P3,upstream_gene_variant,,ENST00000477993,;KMT2C,missense_variant,p.Val9Met,ENST00000558084,;	244	117	118	SUCCESS
TNS3	64759	.	GRCh37	7	47408695	47408695	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	74	0	ENST00000311160.9:c.1548C>A	p.Ser516Arg	p.S516R	ENST00000311160	NM_022748.11	516	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS5506.2	1548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGCTGCT	NONE	.	.	hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	.	ENSP00000381854	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Ser516Arg,ENST00000398879,;TNS3,missense_variant,p.Ser516Arg,ENST00000311160,;TNS3,missense_variant,p.Ser619Arg,ENST00000457718,;TNS3,missense_variant,p.Ser276Arg,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000450444,;TNS3,downstream_gene_variant,,ENST00000469470,;	1915	74	73	SUCCESS
GRID2IP	392862	.	GRCh37	7	6547714	6547714	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	37	0	ENST00000457091.2:c.2446C>A	p.Arg816=	p.R816=	ENST00000457091	NM_001145118.1	816	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47537.1	2446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGGGACA	NONE	.	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15	.	.	ENSP00000397351	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000457091	Transcript	.	.	ENSG00000215045	18464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRD2I_HUMAN	GRID2IP	HGNC	.	.	UPI0001722D0B	SNV	GRID2IP,synonymous_variant,p.%3D,ENST00000457091,;GRID2IP,synonymous_variant,p.%3D,ENST00000452113,;GRID2IP,synonymous_variant,p.%3D,ENST00000435185,;	2446	37	26	SUCCESS
NXPH1	30010	.	GRCh37	7	8475318	8475318	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs189097753	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	130	0	ENST00000405863.1:c.-26G>T		p.*9*	ENST00000405863	NM_152745.2			0	A:0.0005	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS47540.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGCCAAG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0002	ENSP00000384551	A:0.002	2/3	.	.	.	.	.	.	.	.	rs189097753	2/3	PASS	ENST00000405863	Transcript	.	A:0.0004	ENSG00000122584	20693	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	NXPH1_HUMAN	NXPH1	HGNC	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN	.	UPI000000DC02	SNV	NXPH1,5_prime_UTR_variant,,ENST00000602349,;NXPH1,5_prime_UTR_variant,,ENST00000429542,;NXPH1,5_prime_UTR_variant,,ENST00000405863,;NXPH1,5_prime_UTR_variant,,ENST00000438764,;	886	130	83	SUCCESS
PINX1	54984	.	GRCh37	8	10690495	10690495	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	71	0	ENST00000314787.3:c.130-1G>A		p.X44_splice	ENST00000314787	NM_017884.4	44		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCCTGTGG	NONE	.	.	.	.	.	ENSP00000451145	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000554914	Transcript	.	.	ENSG00000258724	18196	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SOX7	Uniprot_gn	B4DKV0_HUMAN	.	UPI00017A7531	SNV	SOX7,splice_acceptor_variant,,ENST00000554914,;PINX1,splice_acceptor_variant,,ENST00000524114,;PINX1,splice_acceptor_variant,,ENST00000519088,;PINX1,splice_acceptor_variant,,ENST00000314787,;SOX7,splice_acceptor_variant,,ENST00000553390,;PINX1,splice_acceptor_variant,,ENST00000426190,;PINX1,splice_acceptor_variant,,ENST00000520018,;PINX1,upstream_gene_variant,,ENST00000517607,;PINX1,splice_acceptor_variant,,ENST00000523559,;PINX1,downstream_gene_variant,,ENST00000524026,;	.	71	25	SUCCESS
JRK	8629	.	GRCh37	8	143747230	143747230	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs782347045	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	22	58	0	ENST00000507178.2:n.581C>T		p.*194*	ENST00000507178				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGTGTGC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	rs782347045	2/2	PASS	ENST00000507178	Transcript	1	.	ENSG00000234616	6199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	JRK	HGNC	.	.	.	SNV	JRK,non_coding_transcript_exon_variant,,ENST00000422119,;JRK,non_coding_transcript_exon_variant,,ENST00000507178,;JRK,non_coding_transcript_exon_variant,,ENST00000512113,;JRK,downstream_gene_variant,,ENST00000591357,;JRK,downstream_gene_variant,,ENST00000503272,;JRK,upstream_gene_variant,,ENST00000506774,;PSCA,upstream_gene_variant,,ENST00000505305,;PSCA,upstream_gene_variant,,ENST00000510969,;	581	58	109	SUCCESS
TIGD5	84948	.	GRCh37	8	144681433	144681433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	33	92	0	ENST00000321385.3:c.1213C>A	p.Leu405Ile	p.L405I	ENST00000321385		405	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS6406.2	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGCTCAAG	NONE	.	.	hmmpanther:PTHR19303:SF210,hmmpanther:PTHR19303,Pfam_domain:PF03184	.	.	ENSP00000421489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504548	Transcript	.	.	ENSG00000179886	18336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	tolerated(0.15)	.	TIGD5_HUMAN	TIGD5	HGNC	.	.	UPI0001BAE24C	SNV	TIGD5,missense_variant,p.Leu454Ile,ENST00000504548,;TIGD5,missense_variant,p.Leu405Ile,ENST00000321385,;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,;EEF1D,upstream_gene_variant,,ENST00000528610,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526133,;PYCRL,downstream_gene_variant,,ENST00000220966,;EEF1D,upstream_gene_variant,,ENST00000419152,;EEF1D,upstream_gene_variant,,ENST00000526838,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000395119,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000317198,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000442189,;RP11-661A12.14,upstream_gene_variant,,ENST00000606452,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;	1360	92	161	SUCCESS
MCM4	4173	.	GRCh37	8	48883923	48883923	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	29	81	0	ENST00000262105.2:c.1823A>T	p.Asn608Ile	p.N608I	ENST00000262105	NM_005914.3	608	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS6143.1	1823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAATGCGC	NONE	.	.	PROSITE_profiles:PS50051,hmmpanther:PTHR11630:SF66,hmmpanther:PTHR11630,Gene3D:3.40.50.300,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000262105	.	12/16	.	.	.	.	.	.	.	.	COSM3374948	12/16	PASS	ENST00000262105	Transcript	1	.	ENSG00000104738	6947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	MCM4_HUMAN	MCM4	HGNC	E5RFR3_HUMAN,E5RFJ8_HUMAN,A4FS09_HUMAN	.	UPI000013D25C	SNV	MCM4,missense_variant,p.Asn608Ile,ENST00000262105,;MCM4,missense_variant,p.Asn608Ile,ENST00000523944,;MCM4,downstream_gene_variant,,ENST00000520637,;MCM4,downstream_gene_variant,,ENST00000518680,;MCM4,non_coding_transcript_exon_variant,,ENST00000523853,;MCM4,non_coding_transcript_exon_variant,,ENST00000519470,;MCM4,non_coding_transcript_exon_variant,,ENST00000517709,;MCM4,upstream_gene_variant,,ENST00000521261,;MCM4,upstream_gene_variant,,ENST00000518382,;MCM4,upstream_gene_variant,,ENST00000521151,;	2032	81	142	SUCCESS
GPR144	0	.	GRCh37	9	127218951	127218951	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	51	0	ENST00000334810.1:c.1500C>G	p.Pro500=	p.P500=	ENST00000334810	NM_001161808.1	500	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	.	1500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCCTGCT	NONE	.	.	hmmpanther:PTHR12011:SF58,hmmpanther:PTHR12011	.	.	ENSP00000335156	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	SNV	GPR144,synonymous_variant,p.%3D,ENST00000334810,;	1500	51	17	SUCCESS
IFNB1	3456	.	GRCh37	9	21077442	21077442	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	36	150	0	ENST00000380232.2:c.427C>A	p.Leu143Met	p.L143M	ENST00000380232	NM_002176.2	143	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6495.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGGTGCA	NONE	.	.	Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF7	.	.	ENSP00000369581	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380232	Transcript	.	.	ENSG00000171855	5434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	IFNB_HUMAN	IFNB1	HGNC	Q5VWC9_HUMAN,B5BUQ5_HUMAN	.	UPI000004775D	SNV	IFNB1,missense_variant,p.Leu143Met,ENST00000380232,;	502	150	64	SUCCESS
GABRQ	55879	.	GRCh37	X	151818999	151818999	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs782134457	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	76	111	0	ENST00000370306.2:c.857C>A	p.Ser286Ter	p.S286*	ENST00000370306	NM_018558.3	286	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS14707.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATCGTTTT	CODON|p.S286L|c.857C>T|4	.	.	Prints_domain:PR00253,Superfamily_domains:SSF90112,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87,Transmembrane_helices:TMhelix	.	.	ENSP00000359329	.	7/9	.	.	.	.	.	.	.	.	rs782134457,COSM206272	7/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,stop_gained,p.Ser286Ter,ENST00000370306,;	877	111	104	SUCCESS
CXorf67	0	.	GRCh37	X	51150121	51150121	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	101	0	ENST00000342995.2:c.253G>T	p.Gly85Trp	p.G85W	ENST00000342995		85	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	.	253	MUTECT|MUSE|VARSCANS	.	CCTCGGGGCTG	NONE	.	.	hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	tolerated(0.06)	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,missense_variant,p.Gly85Trp,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	355	101	58	SUCCESS
PDZD11	51248	.	GRCh37	X	69509318	69509318	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	32	52	1	ENST00000239666.4:c.-13-114T>C		p.*5*	ENST00000239666	NM_016484.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14400.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCATATCT	NONE	.	.	.	.	.	ENSP00000239666	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239666	Transcript	.	.	ENSG00000120509	28034	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDZ11_HUMAN	PDZD11	HGNC	.	.	UPI0000070675	SNV	PDZD11,intron_variant,,ENST00000239666,;PDZD11,intron_variant,,ENST00000374454,;KIF4A,upstream_gene_variant,,ENST00000374403,;RAB41,downstream_gene_variant,,ENST00000276066,;RAB41,downstream_gene_variant,,ENST00000374473,;KIF4A,upstream_gene_variant,,ENST00000374388,;PDZD11,non_coding_transcript_exon_variant,,ENST00000473667,;PDZD11,intron_variant,,ENST00000486461,;KIF4A,upstream_gene_variant,,ENST00000485406,;	.	53	41	SUCCESS
UPRT	139596	.	GRCh37	X	74494410	74494410	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	78	148	0	ENST00000373383.4:c.321G>T	p.Gly107=	p.G107=	ENST00000373383	NM_145052.3	107	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14429.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGGGCGCA	NONE	.	.	Superfamily_domains:SSF53271,Gene3D:3.40.50.2020,hmmpanther:PTHR10285	.	.	ENSP00000362481	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000373383	Transcript	.	.	ENSG00000094841	28334	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UPP_HUMAN	UPRT	HGNC	E9PSD7_HUMAN,A8KAF9_HUMAN	.	UPI000004B62E	SNV	UPRT,synonymous_variant,p.%3D,ENST00000373379,;UPRT,synonymous_variant,p.%3D,ENST00000373383,;UPRT,upstream_gene_variant,,ENST00000530743,;UPRT,non_coding_transcript_exon_variant,,ENST00000531704,;UPRT,synonymous_variant,p.%3D,ENST00000373373,;UPRT,synonymous_variant,p.%3D,ENST00000462237,;	488	148	91	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4967469	4967469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	96	196	0	ENST00000400457.2:c.1787G>A	p.Arg596Lys	p.R596K	ENST00000400457	NM_032973.2	596	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS14777.1	1850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGGCATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.81)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Arg617Lys,ENST00000215473,;PCDH11Y,missense_variant,p.Arg606Lys,ENST00000333703,;PCDH11Y,missense_variant,p.Arg596Lys,ENST00000400457,;PCDH11Y,missense_variant,p.Arg617Lys,ENST00000362095,;	2584	196	130	SUCCESS
WDR96	0	.	GRCh37	10	105923911	105923911	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	102	1	ENST00000357060.3:c.3187C>A	p.Gln1063Lys	p.Q1063K	ENST00000357060	NM_025145.5	1063	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS31281.1	3187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTGCCAGA	NONE	.	.	hmmpanther:PTHR14885	.	.	ENSP00000349568	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.05)	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,missense_variant,p.Gln1064Lys,ENST00000428666,;WDR96,missense_variant,p.Gln1063Lys,ENST00000357060,;WDR96,missense_variant,p.Gln424Lys,ENST00000434629,;WDR96,downstream_gene_variant,,ENST00000278064,;WDR96,upstream_gene_variant,,ENST00000457071,;	3303	103	60	SUCCESS
EXPH5	23086	.	GRCh37	11	108384916	108384916	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145665745	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	116	0	ENST00000265843.4:c.1318G>A	p.Asp440Asn	p.D440N	ENST00000265843	NM_015065.2	440	Gac/Aac	0	T:0.0005	T:0	.	T:0	.	T	D/N	protein_coding	YES	CCDS8341.1	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCGGGAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR21469	T:0.001	T:0	ENSP00000265843	T:0	6/6	.	.	.	.	.	.	.	.	rs145665745,COSM922804	6/6	PASS	ENST00000265843	Transcript	.	T:0.0002	ENSG00000110723	30578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	T:0	deleterious(0.04)	0,1	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,missense_variant,p.Asp364Asn,ENST00000428840,;EXPH5,missense_variant,p.Asp252Asn,ENST00000443411,;EXPH5,missense_variant,p.Asp252Asn,ENST00000533052,;EXPH5,missense_variant,p.Asp433Asn,ENST00000525344,;EXPH5,missense_variant,p.Asp364Asn,ENST00000526312,;EXPH5,missense_variant,p.Asp440Asn,ENST00000265843,;EXPH5,non_coding_transcript_exon_variant,,ENST00000524840,;	1429	116	82	SUCCESS
TNNT3	7140	.	GRCh37	11	1944122	1944122	+	splice_donor_variant	Splice_Site	SNP	G	G	T	.	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	74	0	ENST00000397301.1:c.17+1G>T		p.X6_splice	ENST00000397301		6		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7727.1	.	MUTECT|MUSE	.	GAAGTGTGAGT	NONE	.	.	.	.	.	ENSP00000278317	.	.	.	.	.	.	.	.	.	.	var_11_1944122	.	PASS	ENST00000278317	Transcript	.	.	ENSG00000130595	11950	.	.	HIGH	2/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNNT3_HUMAN	TNNT3	HGNC	.	.	UPI000013DB6C	SNV	TNNT3,splice_donor_variant,,ENST00000381548,;TNNT3,splice_donor_variant,,ENST00000381557,;TNNT3,splice_donor_variant,,ENST00000453458,;TNNT3,splice_donor_variant,,ENST00000381589,;TNNT3,splice_donor_variant,,ENST00000446240,;TNNT3,splice_donor_variant,,ENST00000381558,;TNNT3,splice_donor_variant,,ENST00000360603,;TNNT3,splice_donor_variant,,ENST00000381563,;TNNT3,splice_donor_variant,,ENST00000397304,;TNNT3,splice_donor_variant,,ENST00000381561,;TNNT3,splice_donor_variant,,ENST00000381579,;TNNT3,splice_donor_variant,,ENST00000397301,;TNNT3,splice_donor_variant,,ENST00000381549,;TNNT3,splice_donor_variant,,ENST00000344578,;TNNT3,splice_donor_variant,,ENST00000278317,;AC051649.1,upstream_gene_variant,,ENST00000516378,;TNNT3,upstream_gene_variant,,ENST00000492075,;	.	74	41	SUCCESS
EEF1G	1937	.	GRCh37	11	62327913	62327913	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1179848229	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	110	0	ENST00000329251.4:c.871G>A	p.Asp291Asn	p.D291N	ENST00000329251	NM_001404.4	291	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS44626.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCAACA	NONE	.	.	PROSITE_profiles:PS50040,hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF161,Gene3D:1pbuA00,Pfam_domain:PF00647,Superfamily_domains:0048731	.	.	ENSP00000331901	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000329251	Transcript	.	.	ENSG00000254772	3213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.494)	.	deleterious(0.03)	.	EF1G_HUMAN	EEF1G	HGNC	Q53YD7_HUMAN,Q2F840_HUMAN	.	UPI00000012C3	SNV	EEF1G,missense_variant,p.Asp341Asn,ENST00000378019,;EEF1G,missense_variant,p.Asp291Asn,ENST00000329251,;AHNAK,upstream_gene_variant,,ENST00000530285,;MIR3654,3_prime_UTR_variant,,ENST00000496634,;MIR3654,non_coding_transcript_exon_variant,,ENST00000526409,;EEF1G,non_coding_transcript_exon_variant,,ENST00000525340,;	1002	110	60	SUCCESS
HNRNPUL2	221092	.	GRCh37	11	62491431	62491431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1464008833	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	34	263	0	ENST00000301785.5:c.706G>A	p.Ala236Thr	p.A236T	ENST00000301785	NM_001079559.2	236	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41659.1	706	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCCTCTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50188,hmmpanther:PTHR12381:SF43,hmmpanther:PTHR12381,Superfamily_domains:SSF49899	.	.	ENSP00000301785	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000301785	Transcript	.	.	ENSG00000214753	25451	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated(0.06)	.	HNRL2_HUMAN	HNRNPUL2	HGNC	.	.	UPI0000161949	SNV	HNRNPUL2,missense_variant,p.Ala236Thr,ENST00000301785,;TTC9C,upstream_gene_variant,,ENST00000530625,;TTC9C,upstream_gene_variant,,ENST00000513247,;TTC9C,upstream_gene_variant,,ENST00000316461,;TTC9C,upstream_gene_variant,,ENST00000532583,;HNRNPUL2-BSCL2,missense_variant,p.Ala236Thr,ENST00000403734,;HNRNPUL2,non_coding_transcript_exon_variant,,ENST00000540127,;TTC9C,upstream_gene_variant,,ENST00000294161,;	899	264	206	SUCCESS
MACROD1	28992	.	GRCh37	11	63767228	63767228	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	101	0	ENST00000255681.6:c.672C>A	p.Ile224=	p.I224=	ENST00000255681	NM_014067.3	224	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8056.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGATGAC	NONE	.	.	Superfamily_domains:SSF52949,SMART_domains:SM00506,Gene3D:3.40.220.10,Pfam_domain:PF01661,hmmpanther:PTHR11106:SF56,hmmpanther:PTHR11106,PROSITE_profiles:PS51154	.	.	ENSP00000255681	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000255681	Transcript	.	.	ENSG00000133315	29598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACD1_HUMAN	MACROD1	HGNC	.	.	UPI000006E931	SNV	MACROD1,synonymous_variant,p.%3D,ENST00000255681,;OTUB1,intron_variant,,ENST00000535715,;OTUB1,downstream_gene_variant,,ENST00000543988,;OTUB1,downstream_gene_variant,,ENST00000543004,;OTUB1,downstream_gene_variant,,ENST00000538426,;OTUB1,downstream_gene_variant,,ENST00000422031,;OTUB1,downstream_gene_variant,,ENST00000541478,;OTUB1,downstream_gene_variant,,ENST00000428192,;MACROD1,non_coding_transcript_exon_variant,,ENST00000543422,;OTUB1,upstream_gene_variant,,ENST00000536943,;MACROD1,upstream_gene_variant,,ENST00000541041,;MACROD1,upstream_gene_variant,,ENST00000538042,;MACROD1,downstream_gene_variant,,ENST00000545464,;MACROD1,upstream_gene_variant,,ENST00000542105,;OTUB1,downstream_gene_variant,,ENST00000535140,;OTUB1,downstream_gene_variant,,ENST00000301453,;	739	101	54	SUCCESS
OR2D2	120776	.	GRCh37	11	6913415	6913415	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	31	266	0	ENST00000299459.2:c.317T>A	p.Ile106Asn	p.I106N	ENST00000299459	NM_003700.1	106	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS31416.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAATGAGG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF156,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000299459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299459	Transcript	.	.	ENSG00000166368	8244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	tolerated(0.31)	.	OR2D2_HUMAN	OR2D2	HGNC	.	.	UPI0000061F0B	SNV	OR2D2,missense_variant,p.Ile106Asn,ENST00000299459,;	416	266	142	SUCCESS
BRAP	8315	.	GRCh37	12	112082089	112082089	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756787438	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	74	0	ENST00000419234.4:c.1693G>A	p.Ala565Thr	p.A565T	ENST00000419234	NM_006768.3	565	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9154.1	1693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCGATGT	NONE	byFrequency	.	hmmpanther:PTHR24007	.	.	ENSP00000403524	.	12/12	.	.	.	.	.	.	.	.	rs756787438	12/12	PASS	ENST00000419234	Transcript	.	.	ENSG00000089234	1099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.11)	.	BRAP_HUMAN	BRAP	HGNC	Q59H81_HUMAN,J3KNN7_HUMAN	.	UPI00001AF597	SNV	BRAP,missense_variant,p.Ala386Thr,ENST00000539060,;BRAP,missense_variant,p.Ala535Thr,ENST00000327551,;BRAP,missense_variant,p.Ala565Thr,ENST00000419234,;BRAP,downstream_gene_variant,,ENST00000547043,;	1887	74	69	SUCCESS
HECTD4	283450	.	GRCh37	12	112638476	112638476	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	44	180	0	ENST00000550722.1:c.8095G>C	p.Val2699Leu	p.V2699L	ENST00000550722	NM_001109662.3	2699	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	.	8095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACCAGCC	NONE	.	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	55/76	.	.	.	.	.	.	.	.	.	55/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Val2423Leu,ENST00000430131,;HECTD4,missense_variant,p.Val2699Leu,ENST00000550722,;HECTD4,missense_variant,p.Val2673Leu,ENST00000377560,;HECTD4,non_coding_transcript_exon_variant,,ENST00000548896,;HECTD4,downstream_gene_variant,,ENST00000550968,;	8491	180	150	SUCCESS
GOLGA3	2802	.	GRCh37	12	133358980	133358980	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	109	0	ENST00000204726.3:c.3367G>A	p.Gly1123Ser	p.G1123S	ENST00000204726	NM_005895.3	1123	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS9281.1	3367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCGTAA	NONE	.	.	hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902	.	.	ENSP00000204726	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000204726	Transcript	.	.	ENSG00000090615	4426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GOGA3_HUMAN	GOLGA3	HGNC	.	.	UPI0000190979	SNV	GOLGA3,missense_variant,p.Gly1123Ser,ENST00000204726,;GOLGA3,missense_variant,p.Gly1123Ser,ENST00000450791,;GOLGA3,missense_variant,p.Gly1123Ser,ENST00000456883,;GOLGA3,downstream_gene_variant,,ENST00000537452,;GOLGA3,downstream_gene_variant,,ENST00000545875,;	3926	109	113	SUCCESS
AKAP3	10566	.	GRCh37	12	4736121	4736121	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	73	0	ENST00000228850.1:c.1947C>A	p.Ala649=	p.A649=	ENST00000228850		649	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8531.1	1947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGGCACC	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000440994	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000545990	Transcript	.	.	ENSG00000111254	373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKAP3_HUMAN	AKAP3	HGNC	F5H7P4_HUMAN,F5H2S4_HUMAN	.	UPI000013C8DF	SNV	AKAP3,synonymous_variant,p.%3D,ENST00000545990,;AKAP3,synonymous_variant,p.%3D,ENST00000228850,;AKAP3,downstream_gene_variant,,ENST00000540967,;AKAP3,downstream_gene_variant,,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;	2472	73	73	SUCCESS
COL2A1	1280	.	GRCh37	12	48368646	48368646	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	59	0	ENST00000380518.3:c.3887-1G>A		p.X1296_splice	ENST00000380518	NM_033150.2	1296		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41778.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCCTGCAG	NONE	.	.	.	.	.	ENSP00000369889	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	HIGH	51/53	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,splice_acceptor_variant,,ENST00000380518,;COL2A1,splice_acceptor_variant,,ENST00000337299,;COL2A1,splice_acceptor_variant,,ENST00000493991,;COL2A1,downstream_gene_variant,,ENST00000546974,;	.	59	52	SUCCESS
SPATS2	65244	.	GRCh37	12	49884489	49884489	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	73	0	ENST00000321898.6:c.239A>G	p.Glu80Gly	p.E80G	ENST00000321898		80	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31794.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGAATGGA	NONE	.	.	Superfamily_domains:SSF46934,hmmpanther:PTHR15623:SF9,hmmpanther:PTHR15623	.	.	ENSP00000448228	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000553127	Transcript	.	.	ENSG00000123352	18650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SPAS2_HUMAN	SPATS2	HGNC	F8W128_HUMAN,F8VZS5_HUMAN,F8VXP9_HUMAN,F8VXB3_HUMAN,F8VX46_HUMAN,F8VRH4_HUMAN	.	UPI0000171C5F	SNV	SPATS2,missense_variant,p.Glu80Gly,ENST00000550997,;SPATS2,missense_variant,p.Glu80Gly,ENST00000321898,;SPATS2,missense_variant,p.Glu80Gly,ENST00000553127,;SPATS2,missense_variant,p.Glu80Gly,ENST00000552918,;SPATS2,downstream_gene_variant,,ENST00000548710,;SPATS2,downstream_gene_variant,,ENST00000549538,;SPATS2,downstream_gene_variant,,ENST00000551540,;SPATS2,non_coding_transcript_exon_variant,,ENST00000552557,;SPATS2,non_coding_transcript_exon_variant,,ENST00000552655,;SPATS2,missense_variant,p.Glu80Gly,ENST00000549412,;SPATS2,3_prime_UTR_variant,,ENST00000549045,;SPATS2,non_coding_transcript_exon_variant,,ENST00000549375,;	752	73	75	SUCCESS
ERBB3	2065	.	GRCh37	12	56492143	56492143	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	20	0	ENST00000267101.3:c.2617-141C>T		p.*873*	ENST00000267101	NM_001982.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31833.1	.	MUTECT|MUSE|VARSCANS	.	GTGGGCCGAGA	NONE	.	.	.	.	.	ENSP00000267101	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODIFIER	21/27	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,5_prime_UTR_variant,,ENST00000549832,;ERBB3,intron_variant,,ENST00000553131,;ERBB3,intron_variant,,ENST00000415288,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,intron_variant,,ENST00000267101,;ERBB3,intron_variant,,ENST00000550070,;RP11-603J24.9,upstream_gene_variant,,ENST00000548861,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,intron_variant,,ENST00000551085,;ERBB3,intron_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000549644,;ERBB3,downstream_gene_variant,,ENST00000550828,;ERBB3,downstream_gene_variant,,ENST00000549205,;ERBB3,upstream_gene_variant,,ENST00000552691,;	.	20	14	SUCCESS
HSD17B6	8630	.	GRCh37	12	57180989	57180989	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	118	0	ENST00000322165.1:c.817A>C	p.Thr273Pro	p.T273P	ENST00000322165	NM_003725.2	273	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS8925.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGACATCG	NONE	.	.	hmmpanther:PTHR24316:SF280,hmmpanther:PTHR24316,Gene3D:3.40.50.720	.	.	ENSP00000451406	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000554643	Transcript	.	.	ENSG00000025423	23316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	H17B6_HUMAN	HSD17B6	HGNC	G3V508_HUMAN,G3V3Y9_HUMAN	.	UPI000004C789	SNV	HSD17B6,missense_variant,p.Thr273Pro,ENST00000554643,;HSD17B6,missense_variant,p.Thr273Pro,ENST00000555805,;HSD17B6,missense_variant,p.Thr273Pro,ENST00000554150,;HSD17B6,missense_variant,p.Thr273Pro,ENST00000322165,;HSD17B6,missense_variant,p.Thr273Pro,ENST00000555159,;HSD17B6,non_coding_transcript_exon_variant,,ENST00000553476,;HSD17B6,non_coding_transcript_exon_variant,,ENST00000556875,;	1166	118	76	SUCCESS
RASSF9	9182	.	GRCh37	12	86198626	86198626	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	38	158	0	ENST00000361228.3:c.1162C>T	p.Pro388Ser	p.P388S	ENST00000361228	NM_005447.3	388	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS44950.1	1162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGAACCT	NONE	.	.	hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10	.	.	ENSP00000354884	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000361228	Transcript	.	.	ENSG00000198774	15739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	RASF9_HUMAN	RASSF9	HGNC	.	.	UPI000003E7E4	SNV	RASSF9,missense_variant,p.Pro388Ser,ENST00000361228,;	1531	158	138	SUCCESS
GUCY1B2	2974	.	GRCh37	13	51591182	51591182	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs754174806	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	78	0	ENST00000493639.2:n.1452C>T		p.*484*	ENST00000493639				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCGTGCAG	NONE	.	.	.	.	.	.	.	11/17	.	.	.	.	.	.	.	.	rs754174806	11/17	PASS	ENST00000493639	Transcript	.	.	ENSG00000123201	4686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GUCY1B2	HGNC	.	.	.	SNV	GUCY1B2,non_coding_transcript_exon_variant,,ENST00000493639,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000389600,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000532104,;GUCY1B2,intron_variant,,ENST00000533288,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000531898,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000537462,;	1452	78	87	SUCCESS
CKAP2	26586	.	GRCh37	13	53049113	53049113	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs73186408	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	60	124	0	ENST00000378037.5:c.1889G>A	p.Arg630His	p.R630H	ENST00000378037	NM_018204.3	630	cGt/cAt	0	A:0	A:0	.	A:0.0029	.	A	R/H	protein_coding	YES	CCDS41893.1	1889	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACGTCTTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16076:SF8,hmmpanther:PTHR16076,Pfam_domain:PF15297	A:0	A:0.0003	ENSP00000367276	A:0.001	9/9	.	.	.	.	.	.	.	.	rs73186408	9/9	PASS	ENST00000378037	Transcript	.	A:0.0006	ENSG00000136108	1990	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	A:0	tolerated(0.05)	.	CKAP2_HUMAN	CKAP2	HGNC	C9J7Y4_HUMAN,C9J649_HUMAN	.	UPI000006DA2D	SNV	CKAP2,missense_variant,p.Arg630His,ENST00000378037,;CKAP2,missense_variant,p.Arg581His,ENST00000490903,;CKAP2,missense_variant,p.Arg629His,ENST00000258607,;CKAP2,non_coding_transcript_exon_variant,,ENST00000459902,;	1979	124	113	SUCCESS
ATL1	51062	.	GRCh37	14	51060573	51060573	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	63	0	ENST00000358385.6:c.532T>G	p.Leu178Val	p.L178V	ENST00000358385	NM_015915.4	178	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS9700.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACTTATCC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF02263,hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751,PROSITE_profiles:PS51715	.	.	ENSP00000351155	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000358385	Transcript	.	.	ENSG00000198513	11231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	deleterious(0.03)	.	ATLA1_HUMAN	ATL1	HGNC	G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN	.	UPI0000073893	SNV	ATL1,missense_variant,p.Leu178Val,ENST00000354525,;ATL1,missense_variant,p.Leu178Val,ENST00000441560,;ATL1,missense_variant,p.Leu34Val,ENST00000554886,;ATL1,missense_variant,p.Leu178Val,ENST00000357032,;ATL1,missense_variant,p.Leu178Val,ENST00000358385,;ATL1,downstream_gene_variant,,ENST00000555960,;ATL1,downstream_gene_variant,,ENST00000557735,;ATL1,downstream_gene_variant,,ENST00000553746,;	773	63	34	SUCCESS
FRMD6	122786	.	GRCh37	14	52182185	52182185	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	81	0	ENST00000344768.5:c.992T>C	p.Leu331Pro	p.L331P	ENST00000344768		331	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS58318.1	992	MUTECT|MUSE	.	TGTCCTGCGCC	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,Superfamily_domains:SSF50729	.	.	ENSP00000343899	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000344768	Transcript	.	.	ENSG00000139926	19839	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.133)	.	deleterious(0.02)	.	FRMD6_HUMAN	FRMD6	HGNC	G3V517_HUMAN,G3V3V8_HUMAN	.	UPI00000473F6	SNV	FRMD6,missense_variant,p.Leu254Pro,ENST00000554167,;FRMD6,missense_variant,p.Leu323Pro,ENST00000395718,;FRMD6,missense_variant,p.Leu323Pro,ENST00000356218,;FRMD6,missense_variant,p.Leu61Pro,ENST00000555197,;FRMD6,missense_variant,p.Leu331Pro,ENST00000344768,;FRMD6,upstream_gene_variant,,ENST00000555703,;FRMD6,upstream_gene_variant,,ENST00000553556,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557522,;FRMD6,downstream_gene_variant,,ENST00000554495,;	1188	81	52	SUCCESS
AC005280.1	0	.	GRCh37	14	73957733	73957733	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	75	0	ENST00000304061.5:n.90T>G		p.*30*	ENST00000304061				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9815.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTCCAGG	NONE	.	.	.	.	.	ENSP00000450444	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000553558	Transcript	.	.	ENSG00000187105	16761	.	.	MODIFIER	17/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEAT4_HUMAN	HEATR4	HGNC	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN	.	UPI00001FD7FD	SNV	HEATR4,intron_variant,,ENST00000553558,;HEATR4,intron_variant,,ENST00000560393,;HEATR4,intron_variant,,ENST00000334988,;C14orf169,non_coding_transcript_exon_variant,,ENST00000531973,;HEATR4,intron_variant,,ENST00000565094,;AC005280.1,non_coding_transcript_exon_variant,,ENST00000304061,;	.	75	56	SUCCESS
ATG2B	55102	.	GRCh37	14	96752158	96752158	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	133	0	ENST00000359933.4:c.6171G>T	p.Met2057Ile	p.M2057I	ENST00000359933	NM_018036.5	2057	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9944.2	6171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCATGCC	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190,Pfam_domain:PF09333	.	.	ENSP00000353010	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious(0)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Met2057Ile,ENST00000359933,;ATG2B,downstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000555263,;ATG2B,downstream_gene_variant,,ENST00000553643,;	7065	133	84	SUCCESS
ZNF423	23090	.	GRCh37	16	49671334	49671334	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	125	0	ENST00000262383.2:c.1729A>T	p.Ile577Phe	p.I577F	ENST00000262383		577	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS32445.1	1729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATGGAGC	NONE	.	.	hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385,SMART_domains:SM00355	.	.	ENSP00000455426	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.3)	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,missense_variant,p.Ile577Phe,ENST00000262383,;ZNF423,missense_variant,p.Ile517Phe,ENST00000563137,;ZNF423,missense_variant,p.Ile517Phe,ENST00000562520,;ZNF423,missense_variant,p.Ile577Phe,ENST00000561648,;ZNF423,missense_variant,p.Ile460Phe,ENST00000567169,;ZNF423,missense_variant,p.Ile460Phe,ENST00000535559,;ZNF423,missense_variant,p.Ile517Phe,ENST00000562871,;	1783	125	60	SUCCESS
WDR90	197335	.	GRCh37	16	701923	701923	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	63	0	ENST00000293879.4:c.937A>C	p.Ser313Arg	p.S313R	ENST00000293879		313	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS42092.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATAGCCTT	NONE	.	.	.	.	.	ENSP00000293879	.	9/41	.	.	.	.	.	.	.	.	.	9/41	PASS	ENST00000293879	Transcript	.	.	ENSG00000161996	26960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.45)	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,missense_variant,p.Ser313Arg,ENST00000549091,;WDR90,missense_variant,p.Ser313Arg,ENST00000293879,;FAM195A,downstream_gene_variant,,ENST00000307650,;LA16c-349E10.1,downstream_gene_variant,,ENST00000573609,;AL022341.3,upstream_gene_variant,,ENST00000455294,;WDR90,upstream_gene_variant,,ENST00000552648,;WDR90,non_coding_transcript_exon_variant,,ENST00000549648,;WDR90,non_coding_transcript_exon_variant,,ENST00000420061,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;FAM195A,downstream_gene_variant,,ENST00000575894,;WDR90,upstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000547407,;FAM195A,downstream_gene_variant,,ENST00000491999,;FAM195A,downstream_gene_variant,,ENST00000474840,;WDR90,upstream_gene_variant,,ENST00000548859,;WDR90,upstream_gene_variant,,ENST00000546516,;WDR90,upstream_gene_variant,,ENST00000552728,;	937	63	43	SUCCESS
TLK2	11011	.	GRCh37	17	60679436	60679436	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	79	0	ENST00000326270.9:c.1820G>T	p.Gly607Val	p.G607V	ENST00000326270	NM_001284333.1	607	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11633.1	1754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGAGAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22974:SF20,hmmpanther:PTHR22974,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000275780	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000346027	Transcript	.	.	ENSG00000146872	11842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TLK2_HUMAN	TLK2	HGNC	J3QS73_HUMAN,J3QQN4_HUMAN,J3QLK5_HUMAN,J3KST4_HUMAN	.	UPI00001B6B0F	SNV	TLK2,missense_variant,p.Gly521Val,ENST00000581041,;TLK2,missense_variant,p.Gly553Val,ENST00000343388,;TLK2,missense_variant,p.Gly553Val,ENST00000542523,;TLK2,missense_variant,p.Gly436Val,ENST00000582809,;TLK2,missense_variant,p.Gly585Val,ENST00000346027,;TLK2,missense_variant,p.Gly607Val,ENST00000326270,;TLK2,non_coding_transcript_exon_variant,,ENST00000578931,;TLK2,upstream_gene_variant,,ENST00000583310,;TLK2,downstream_gene_variant,,ENST00000582660,;	2025	79	103	SUCCESS
TEX2	55852	.	GRCh37	17	62265633	62265633	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	69	0	ENST00000583097.1:c.2319T>G	p.Leu773=	p.L773=	ENST00000583097		773	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11658.1	2340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGAAGCAT	NONE	.	.	hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2	.	.	ENSP00000258991	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,synonymous_variant,p.%3D,ENST00000584379,;TEX2,synonymous_variant,p.%3D,ENST00000258991,;TEX2,synonymous_variant,p.%3D,ENST00000583097,;TEX2,synonymous_variant,p.%3D,ENST00000583501,;TEX2,non_coding_transcript_exon_variant,,ENST00000577489,;	2425	69	48	SUCCESS
NLGN2	57555	.	GRCh37	17	7319124	7319124	+	synonymous_variant	Silent	SNP	C	C	T	rs145633225	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	64	0	ENST00000302926.2:c.1332C>T	p.Gly444=	p.G444=	ENST00000302926	NM_020795.3	444	ggC/ggT	0	T:0	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS11103.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCGAAAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF53,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	T:0	T:0.0016	ENSP00000305288	T:0.001	6/7	.	.	.	.	.	.	.	.	rs145633225	6/7	common_in_exac	ENST00000302926	Transcript	.	T:0.0002	ENSG00000169992	14290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NLGN2_HUMAN	NLGN2	HGNC	.	.	UPI0000049FD2	SNV	NLGN2,synonymous_variant,p.%3D,ENST00000302926,;NLGN2,synonymous_variant,p.%3D,ENST00000575301,;NLGN2,downstream_gene_variant,,ENST00000570940,;SPEM1,upstream_gene_variant,,ENST00000323675,;RP11-104H15.7,upstream_gene_variant,,ENST00000575310,;	1405	64	32	SUCCESS
TP53	7157	.	GRCh37	17	7579559	7579559	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	92	0	ENST00000269305.4:c.128del	p.Leu43Ter	p.L43*	ENST00000269305	NM_001126112.2	43	tTg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS11118.1	128	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCATCAAATCA	CODON|p.0?|c.1_1182del1182|6,BUFFER|p.P47fs*76|c.140delC|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	TP53_g.11359T>C,TP53_g.11359T>A,COSM984983,COSM984984,COSM984986	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1,1,1	.	.	.	.	.	0,0,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Leu43Ter,ENST00000508793,;TP53,frameshift_variant,p.Leu43Ter,ENST00000413465,;TP53,frameshift_variant,p.Leu43Ter,ENST00000604348,;TP53,frameshift_variant,p.Leu43Ter,ENST00000420246,;TP53,frameshift_variant,p.Leu43Ter,ENST00000269305,;TP53,frameshift_variant,p.Leu43Ter,ENST00000359597,;TP53,frameshift_variant,p.Leu43Ter,ENST00000445888,;TP53,frameshift_variant,p.Leu43Ter,ENST00000503591,;TP53,frameshift_variant,p.Leu43Ter,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	318	92	81	SUCCESS
APCDD1	147495	.	GRCh37	18	10471890	10471890	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	43	119	0	ENST00000355285.5:c.606G>A	p.Val202=	p.V202=	ENST00000355285	NM_153000.4	202	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11849.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTGAACTT	NONE	.	.	hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921	.	.	ENSP00000347433	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000355285	Transcript	.	.	ENSG00000154856	15718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,synonymous_variant,p.%3D,ENST00000584596,;APCDD1,synonymous_variant,p.%3D,ENST00000355285,;APCDD1,intron_variant,,ENST00000578882,;APCDD1,3_prime_UTR_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;	960	119	81	SUCCESS
ZNF396	252884	.	GRCh37	18	32949594	32949594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	96	0	ENST00000589332.1:c.593C>A	p.Ser198Tyr	p.S198Y	ENST00000589332		198	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS11913.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGATTTC	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF26	.	.	ENSP00000302310	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000306346	Transcript	.	.	ENSG00000186496	18824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	tolerated(1)	.	ZN396_HUMAN	ZNF396	HGNC	K7ERR8_HUMAN,K7EK38_HUMAN	.	UPI000013C36B	SNV	ZNF396,missense_variant,p.Ser198Tyr,ENST00000589332,;ZNF396,missense_variant,p.Ser198Tyr,ENST00000306346,;ZNF396,downstream_gene_variant,,ENST00000586687,;ZNF396,downstream_gene_variant,,ENST00000587422,;ZNF396,downstream_gene_variant,,ENST00000585522,;ZNF396,downstream_gene_variant,,ENST00000586585,;	725	96	78	SUCCESS
LOXHD1	125336	.	GRCh37	18	44057472	44057472	+	intron_variant	Intron	SNP	T	T	C	.	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	61	0	ENST00000300591.6:c.3307+145A>G		p.*1103*	ENST00000300591	NM_001145472.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45861.1	.	MUTECT|VARSCANS	.	GTCCATCCCCC	NONE	.	.	.	.	.	ENSP00000300591	.	.	.	.	.	.	.	.	.	.	COSM396462	.	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	MODIFIER	23/23	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,missense_variant,p.Asp1089Gly,ENST00000582408,;LOXHD1,missense_variant,p.Asp2056Gly,ENST00000441551,;LOXHD1,missense_variant,p.Asp1133Gly,ENST00000441893,;LOXHD1,missense_variant,p.Asp2200Gly,ENST00000536736,;LOXHD1,missense_variant,p.Asp501Gly,ENST00000398686,;LOXHD1,intron_variant,,ENST00000300591,;LOXHD1,intron_variant,,ENST00000398705,;LOXHD1,intron_variant,,ENST00000579038,;LOXHD1,intron_variant,,ENST00000398722,;	.	61	45	SUCCESS
ZNF236	7776	.	GRCh37	18	74659514	74659514	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778910367	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	61	0	ENST00000253159.8:c.4814T>C	p.Leu1605Pro	p.L1605P	ENST00000253159	NM_007345.3	1605	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42447.1	4814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTCTCGG	NONE	.	.	hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15	.	.	ENSP00000253159	.	27/31	.	.	.	.	.	.	.	.	rs778910367	27/31	PASS	ENST00000253159	Transcript	.	.	ENSG00000130856	13028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ZN236_HUMAN	ZNF236	HGNC	.	.	UPI0000F6DCCB	SNV	ZNF236,missense_variant,p.Leu1607Pro,ENST00000320610,;ZNF236,missense_variant,p.Leu1605Pro,ENST00000253159,;ZNF236,3_prime_UTR_variant,,ENST00000543926,;	5012	61	57	SUCCESS
ZNF441	126068	.	GRCh37	19	11891848	11891848	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	83	0	ENST00000357901.4:c.1209C>G	p.Phe403Leu	p.F403L	ENST00000357901	NM_152355.2	403	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS12266.2	1209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTCTATTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF22,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350576	.	4/4	.	.	.	.	.	.	.	.	COSM991028,COSM991027	4/4	PASS	ENST00000357901	Transcript	.	.	ENSG00000197044	20875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.044)	.	tolerated(0.65)	1,1	ZN441_HUMAN	ZNF441	HGNC	J3KQM6_HUMAN	.	UPI000059D677	SNV	ZNF441,missense_variant,p.Phe403Leu,ENST00000357901,;ZNF441,missense_variant,p.Phe336Leu,ENST00000454339,;ZNF441,3_prime_UTR_variant,,ENST00000409902,;ZNF441,downstream_gene_variant,,ENST00000462251,;	1311	83	75	SUCCESS
SYDE1	85360	.	GRCh37	19	15221118	15221118	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	42	0	ENST00000342784.2:c.1034C>T	p.Pro345Leu	p.P345L	ENST00000342784	NM_033025.4	345	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12324.1	1034	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCCTGTG	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.38)	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,missense_variant,p.Pro278Leu,ENST00000600440,;SYDE1,missense_variant,p.Pro345Leu,ENST00000342784,;SYDE1,5_prime_UTR_variant,,ENST00000600252,;ILVBL,downstream_gene_variant,,ENST00000534378,;SYDE1,upstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000263383,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000534806,;	1065	42	38	SUCCESS
MAP1S	55201	.	GRCh37	19	17837234	17837234	+	synonymous_variant	Silent	SNP	G	G	T	rs1279392021	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	23	0	ENST00000324096.4:c.1041G>T	p.Arg347=	p.R347=	ENST00000324096	NM_018174.4	347	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32954.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCGGCTGGC	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,synonymous_variant,p.%3D,ENST00000544059,;MAP1S,synonymous_variant,p.%3D,ENST00000324096,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,3_prime_UTR_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;	1192	23	24	SUCCESS
ZNF781	163115	.	GRCh37	19	38160695	38160695	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs993301793	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	80	0	ENST00000358582.4:c.355T>C	p.Cys119Arg	p.C119R	ENST00000358582	NM_152605.3	119	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS12507.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACATTTAT	NONE	.	.	hmmpanther:PTHR24409:SF13,hmmpanther:PTHR24409,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000351391	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358582	Transcript	.	.	ENSG00000196381	26745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	ZN781_HUMAN	ZNF781	HGNC	.	.	UPI0000351D6C	SNV	ZNF781,missense_variant,p.Cys119Arg,ENST00000590008,;ZNF781,missense_variant,p.Cys119Arg,ENST00000358582,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000589676,;ZFP30,intron_variant,,ENST00000586732,;ZNF781,downstream_gene_variant,,ENST00000593040,;	1104	80	89	SUCCESS
TGFB1	7040	.	GRCh37	19	41858864	41858864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199758510	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	69	0	ENST00000221930.5:c.86G>A	p.Gly29Glu	p.G29E	ENST00000221930	NM_000660.4	29	gGa/gAa	0	T:0.0005	T:0.0008	.	T:0	.	T	G/E	protein_coding	YES	CCDS33031.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTCCCGCG	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848:SF125,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423,Prints_domain:PR01424	T:0	T:0.0004	ENSP00000221930	T:0.001	1/7	.	.	.	.	.	.	.	.	rs199758510,CM090931,CM090932,COSM4140675	1/7	PASS	ENST00000221930	Transcript	1	T:0.0004	ENSG00000105329	11766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.576)	T:0	deleterious(0.04)	0,0,0,1	TGFB1_HUMAN	TGFB1	HGNC	Q7Z488_HUMAN,Q7Z487_HUMAN,Q5PY19_HUMAN	.	UPI000013C7E1	SNV	TGFB1,missense_variant,p.Gly29Glu,ENST00000221930,;TMEM91,intron_variant,,ENST00000539627,;TMEM91,upstream_gene_variant,,ENST00000604123,;B9D2,downstream_gene_variant,,ENST00000243578,;CTC-435M10.3,intron_variant,,ENST00000604424,;TGFB1,upstream_gene_variant,,ENST00000597453,;B9D2,downstream_gene_variant,,ENST00000594416,;	953	69	61	SUCCESS
HRC	3270	.	GRCh37	19	49655258	49655258	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs200626639	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	101	0	ENST00000252825.4:c.2026+3G>A		p.X676_splice	ENST00000252825	NM_002152.2	676		0	T:0.0002	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS12759.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTCACCTG	NONE	byCluster|by1000G	.	.	T:0.001	T:0	ENSP00000252825	T:0	.	.	.	.	.	.	.	.	.	rs200626639	.	PASS	ENST00000252825	Transcript	.	T:0.0002	ENSG00000130528	5178	.	.	LOW	4/5	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	SRCH_HUMAN	HRC	HGNC	.	.	UPI0000135F21	SNV	HRC,splice_region_variant,,ENST00000595625,;HRC,splice_region_variant,,ENST00000252825,;HRC,intron_variant,,ENST00000598858,;PPFIA3,downstream_gene_variant,,ENST00000334186,;PPFIA3,downstream_gene_variant,,ENST00000602351,;PPFIA3,downstream_gene_variant,,ENST00000602897,;PPFIA3,downstream_gene_variant,,ENST00000602848,;HRC,non_coding_transcript_exon_variant,,ENST00000595167,;PPFIA3,downstream_gene_variant,,ENST00000602783,;PPFIA3,downstream_gene_variant,,ENST00000602655,;PPFIA3,downstream_gene_variant,,ENST00000602905,;	.	101	91	SUCCESS
KLK12	43849	.	GRCh37	19	51534168	51534168	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777254569	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	109	0	ENST00000319590.4:c.467C>A	p.Pro156Gln	p.P156Q	ENST00000319590	NM_145894.1	156	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS12820.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGGGAAT	NONE	byFrequency	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF21,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000250351	.	5/7	.	.	.	.	.	.	.	.	rs777254569	5/7	PASS	ENST00000250351	Transcript	.	.	ENSG00000186474	6360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	KLK12_HUMAN	KLK12	HGNC	.	.	UPI000002ACDD	SNV	KLK12,missense_variant,p.Pro156Gln,ENST00000525263,;KLK12,missense_variant,p.Pro46Gln,ENST00000250352,;KLK12,missense_variant,p.Pro156Gln,ENST00000250351,;KLK12,missense_variant,p.Pro156Gln,ENST00000319590,;KLK12,synonymous_variant,p.%3D,ENST00000529888,;KLK11,upstream_gene_variant,,ENST00000319720,;KLK11,upstream_gene_variant,,ENST00000453757,;KLK11,upstream_gene_variant,,ENST00000600362,;KLK11,upstream_gene_variant,,ENST00000594768,;KLK11,upstream_gene_variant,,ENST00000601671,;KLK11,upstream_gene_variant,,ENST00000391804,;CTC-518B2.9,intron_variant,,ENST00000594910,;KLK11,upstream_gene_variant,,ENST00000594458,;KLK12,3_prime_UTR_variant,,ENST00000530943,;KLK12,3_prime_UTR_variant,,ENST00000531374,;KLK12,3_prime_UTR_variant,,ENST00000526824,;KLK11,upstream_gene_variant,,ENST00000594827,;KLK11,upstream_gene_variant,,ENST00000319756,;	584	109	78	SUCCESS
LILRP2	79166	.	GRCh37	19	55221615	55221615	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	80	0	ENST00000413439.1:n.1395C>A		p.*465*	ENST00000413439				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCCCTGA	NONE	.	3538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000583865	Transcript	.	.	ENSG00000266427	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC098784.2	Clone_based_ensembl_gene	.	.	.	SNV	AC098784.2,downstream_gene_variant,,ENST00000583865,;LILRP2,non_coding_transcript_exon_variant,,ENST00000413439,;LILRP2,non_coding_transcript_exon_variant,,ENST00000413572,;	.	80	98	SUCCESS
WDR47	22911	.	GRCh37	1	109538417	109538417	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	37	142	0	ENST00000369962.3:c.1476C>G	p.Gly492=	p.G492=	ENST00000369962		492	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS44186.1	1500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGCCATC	NONE	.	.	hmmpanther:PTHR19863	.	.	ENSP00000383599	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000400794	Transcript	.	.	ENSG00000085433	29141	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR47_HUMAN	WDR47	HGNC	E9PKZ6_HUMAN	.	UPI0001639B05	SNV	WDR47,synonymous_variant,p.%3D,ENST00000369965,;WDR47,synonymous_variant,p.%3D,ENST00000400794,;WDR47,synonymous_variant,p.%3D,ENST00000361054,;WDR47,synonymous_variant,p.%3D,ENST00000357672,;WDR47,synonymous_variant,p.%3D,ENST00000369962,;RP11-20O24.4,downstream_gene_variant,,ENST00000538262,;RP11-20O24.4,downstream_gene_variant,,ENST00000414070,;	1634	142	145	SUCCESS
WDR47	22911	.	GRCh37	1	109538418	109538418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	38	141	0	ENST00000369962.3:c.1475G>T	p.Gly492Val	p.G492V	ENST00000369962		492	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS44186.1	1499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCCATCC	NONE	.	.	hmmpanther:PTHR19863	.	.	ENSP00000383599	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000400794	Transcript	.	.	ENSG00000085433	29141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	WDR47_HUMAN	WDR47	HGNC	E9PKZ6_HUMAN	.	UPI0001639B05	SNV	WDR47,missense_variant,p.Gly493Val,ENST00000369965,;WDR47,missense_variant,p.Gly500Val,ENST00000400794,;WDR47,missense_variant,p.Gly464Val,ENST00000361054,;WDR47,missense_variant,p.Gly464Val,ENST00000357672,;WDR47,missense_variant,p.Gly492Val,ENST00000369962,;RP11-20O24.4,downstream_gene_variant,,ENST00000538262,;RP11-20O24.4,downstream_gene_variant,,ENST00000414070,;	1633	142	144	SUCCESS
TUFT1	7286	.	GRCh37	1	151546817	151546817	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	81	277	0	ENST00000368849.3:c.666G>T	p.Val222=	p.V222=	ENST00000368849	NM_020127.2	222	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1000.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGGAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171:SF4,hmmpanther:PTHR23171,Pfam_domain:PF15328	.	.	ENSP00000357842	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000368849	Transcript	.	.	ENSG00000143367	12422	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUFT1_HUMAN	TUFT1	HGNC	.	.	UPI0000037BFA	SNV	TUFT1,synonymous_variant,p.%3D,ENST00000368848,;TUFT1,synonymous_variant,p.%3D,ENST00000368849,;TUFT1,synonymous_variant,p.%3D,ENST00000353024,;TUFT1,synonymous_variant,p.%3D,ENST00000392712,;TUFT1,synonymous_variant,p.%3D,ENST00000538902,;TUFT1,non_coding_transcript_exon_variant,,ENST00000490156,;TUFT1,downstream_gene_variant,,ENST00000498606,;	728	277	356	SUCCESS
IQGAP3	128239	.	GRCh37	1	156520099	156520099	+	synonymous_variant	Silent	SNP	G	G	A	rs1374114888	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	42	61	0	ENST00000361170.2:c.1779C>T	p.Arg593=	p.R593=	ENST00000361170	NM_178229.4	593	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1144.1	1779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGCGGAT	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10	.	.	ENSP00000354451	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000361170	Transcript	.	.	ENSG00000183856	20669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQGA3_HUMAN	IQGAP3	HGNC	F2Z2E2_HUMAN	.	UPI000046FFDD	SNV	IQGAP3,synonymous_variant,p.%3D,ENST00000361170,;IQGAP3,synonymous_variant,p.%3D,ENST00000491900,;	1790	61	83	SUCCESS
FCRL1	115350	.	GRCh37	1	157772291	157772291	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	27	125	0	ENST00000368176.3:c.483G>A	p.Gln161=	p.Q161=	ENST00000368176	NM_001159398.1	161	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS1170.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGCTGGGT	BUFFER|p.R162C|c.484C>T|3,BUFFER|p.R162C|c.484C>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357158	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,synonymous_variant,p.%3D,ENST00000368176,;FCRL1,synonymous_variant,p.%3D,ENST00000358292,;FCRL1,synonymous_variant,p.%3D,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,intron_variant,,ENST00000368175,;FCRL1,downstream_gene_variant,,ENST00000480310,;FCRL1,upstream_gene_variant,,ENST00000495126,;FCRL1,upstream_gene_variant,,ENST00000463001,;	551	125	126	SUCCESS
KCNJ10	3766	.	GRCh37	1	160012115	160012115	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	18	112	0	ENST00000368089.3:c.208C>T	p.Leu70Phe	p.L70F	ENST00000368089	NM_002241.4	70	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1193.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGCAGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF21,Pfam_domain:PF01007,Gene3D:1.10.287.70,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320	.	.	ENSP00000357068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368089	Transcript	.	.	ENSG00000177807	6256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	tolerated(0.21)	.	IRK10_HUMAN	KCNJ10	HGNC	Q9BXC5_HUMAN	.	UPI000012D8A6	SNV	KCNJ10,missense_variant,p.Leu70Phe,ENST00000368089,;KCNJ10,upstream_gene_variant,,ENST00000509700,;	435	112	101	SUCCESS
DUSP27	0	.	GRCh37	1	167095331	167095331	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	65	0	ENST00000361200.2:c.963C>A	p.Ala321=	p.A321=	ENST00000361200		321	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30932.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCAGCCA	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,non_coding_transcript_exon_variant,,ENST00000485151,;	1129	65	57	SUCCESS
KISS1	3814	.	GRCh37	1	204159709	204159709	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	25	97	0	ENST00000367194.4:c.320A>C	p.Lys107Thr	p.K107T	ENST00000367194	NM_002256.3	107	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS41454.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTTCTCC	NONE	.	.	hmmpanther:PTHR16955,hmmpanther:PTHR16955:SF6,Pfam_domain:PF15152	.	.	ENSP00000356162	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367194	Transcript	.	.	ENSG00000170498	6341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.254)	.	deleterious(0)	.	KISS1_HUMAN	KISS1	HGNC	.	.	UPI000007059D	SNV	KISS1,missense_variant,p.Lys107Thr,ENST00000367194,;	469	97	115	SUCCESS
MEGF6	1953	.	GRCh37	1	3417558	3417558	+	synonymous_variant	Silent	SNP	G	G	C	rs769082669	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	104	143	0	ENST00000356575.4:c.2547C>G	p.Pro849=	p.P849=	ENST00000356575	NM_001409.3	849	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS41237.1	2547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGGGGGC	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF29,hmmpanther:PTHR24035,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00180	.	.	ENSP00000348982	.	20/37	.	.	.	.	.	.	.	.	rs769082669	20/37	PASS	ENST00000356575	Transcript	.	.	ENSG00000162591	3232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,synonymous_variant,p.%3D,ENST00000356575,;MEGF6,synonymous_variant,p.%3D,ENST00000294599,;MEGF6,upstream_gene_variant,,ENST00000491842,;MEGF6,synonymous_variant,p.%3D,ENST00000485002,;MEGF6,upstream_gene_variant,,ENST00000475790,;	2774	143	237	SUCCESS
TP73	7161	.	GRCh37	1	3599745	3599745	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	51	96	0	ENST00000378295.4:c.186+1G>A		p.X62_splice	ENST00000378295	NM_005427.3	62		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS49.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGTGAGT	NONE	.	.	.	.	.	ENSP00000367545	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378295	Transcript	.	.	ENSG00000078900	12003	.	.	HIGH	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P73_HUMAN	TP73	HGNC	B7Z3B4_HUMAN	.	UPI000002E988	SNV	TP73,splice_donor_variant,,ENST00000354437,;TP73,splice_donor_variant,,ENST00000603362,;TP73,splice_donor_variant,,ENST00000346387,;TP73,splice_donor_variant,,ENST00000378295,;TP73,splice_donor_variant,,ENST00000357733,;TP73,splice_donor_variant,,ENST00000604479,;TP73,splice_donor_variant,,ENST00000604074,;	.	96	150	SUCCESS
CYP4X1	260293	.	GRCh37	1	47489477	47489477	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	16	89	0	ENST00000371901.3:c.-13G>A		p.*5*	ENST00000371901	NM_178033.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS544.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCGCTGCG	NONE	.	.	.	.	.	ENSP00000360968	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000371901	Transcript	.	.	ENSG00000186377	20244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4X1_HUMAN	CYP4X1	HGNC	.	.	UPI000003F043	SNV	CYP4X1,5_prime_UTR_variant,,ENST00000371901,;CYP4X1,intron_variant,,ENST00000538609,;	238	89	66	SUCCESS
IL23R	149233	.	GRCh37	1	67666504	67666505	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	291	74	347	0	ENST00000347310.5:c.578dup	p.Leu193PhefsTer24	p.L193Ffs*24	ENST00000347310	NM_144701.2	192	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS637.1	576-577	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGTACTTGGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF88,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000321345	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000347310	Transcript	.	.	ENSG00000162594	19100	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL23R_HUMAN	IL23R	HGNC	D9N2T9_HUMAN,B6HY80_HUMAN	.	UPI000004CACD	insertion	IL23R,frameshift_variant,p.Leu193PhefsTer24,ENST00000347310,;IL23R,frameshift_variant,p.Leu193PhefsTer24,ENST00000371002,;C1orf141,intron_variant,,ENST00000371007,;C1orf141,intron_variant,,ENST00000448166,;RNU6-586P,downstream_gene_variant,,ENST00000517265,;	747-748	347	365	SUCCESS
RERE	473	.	GRCh37	1	8416253	8416255	+	inframe_deletion	In_Frame_Del	DEL	GGT	GGT	-	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	GGT	GGT	.	.	.	.	.	.	.	.	.	.	.	.	.	117	47	97	0	ENST00000337907.3:c.4391_4393del	p.His1464del	p.H1464del	ENST00000337907	NM_012102.3	1464	cACCtg/ctg	0	.	.	.	.	.	-	HL/L	protein_coding	YES	CCDS95.1	4391-4393	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCCAGGTGGGGA	NONE	.	.	hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,Pfam_domain:PF03154	.	.	ENSP00000338629	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000337907	Transcript	.	.	ENSG00000142599	9965	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RERE_HUMAN	RERE	HGNC	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN	.	UPI00001419CC	deletion	RERE,inframe_deletion,p.His1464del,ENST00000400908,;RERE,inframe_deletion,p.His1196del,ENST00000377464,;RERE,inframe_deletion,p.His1464del,ENST00000337907,;RERE,inframe_deletion,p.His120del,ENST00000505225,;RERE,inframe_deletion,p.His910del,ENST00000476556,;RERE,intron_variant,,ENST00000400907,;RERE,upstream_gene_variant,,ENST00000467350,;	5026-5028	97	164	SUCCESS
SOGA1	140710	.	GRCh37	20	35422556	35422556	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs957116211	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	83	0	ENST00000237536.4:c.3929G>A	p.Arg1310Gln	p.R1310Q	ENST00000237536	NM_080627.2	1310	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS54459.1	3929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGTGAG	NONE	.	.	hmmpanther:PTHR15742:SF1,hmmpanther:PTHR15742	.	.	ENSP00000237536	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.19)	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,missense_variant,p.Arg1310Gln,ENST00000237536,;SOGA1,missense_variant,p.Arg1072Gln,ENST00000357779,;SOGA1,missense_variant,p.Arg913Gln,ENST00000456801,;SOGA1,intron_variant,,ENST00000279034,;SOGA1,missense_variant,p.Arg924Gln,ENST00000465671,;	4271	83	80	SUCCESS
MAVS	57506	.	GRCh37	20	3845305	3845305	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	78	0	ENST00000428216.2:c.1028A>G	p.Asn343Ser	p.N343S	ENST00000428216	NM_020746.4	343	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33437.1	1028	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAATCCAG	NONE	.	.	hmmpanther:PTHR21446:SF3,hmmpanther:PTHR21446	.	.	ENSP00000401980	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000428216	Transcript	.	.	ENSG00000088888	29233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	tolerated(0.85)	.	MAVS_HUMAN	MAVS	HGNC	M1P2Z0_HUMAN	.	UPI000015F983	SNV	MAVS,missense_variant,p.Asn202Ser,ENST00000416600,;MAVS,missense_variant,p.Asn343Ser,ENST00000428216,;MAVS,3_prime_UTR_variant,,ENST00000358134,;	1156	78	61	SUCCESS
ARFGEF2	10564	.	GRCh37	20	47558450	47558450	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	60	0	ENST00000371917.4:c.202T>C	p.Tyr68His	p.Y68H	ENST00000371917	NM_006420.2	68	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS13411.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGTATTTT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124	.	.	ENSP00000360985	.	3/39	.	.	.	.	.	.	.	.	.	3/39	PASS	ENST00000371917	Transcript	1	.	ENSG00000124198	15853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	deleterious(0.03)	.	BIG2_HUMAN	ARFGEF2	HGNC	Q59FR3_HUMAN	.	UPI000013D378	SNV	ARFGEF2,missense_variant,p.Tyr68His,ENST00000371917,;	202	60	62	SUCCESS
TRMT6	51605	.	GRCh37	20	5919267	5919267	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	90	0	ENST00000203001.2:c.1408C>T	p.Leu470Phe	p.L470F	ENST00000203001	NM_001281467.1	470	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS13093.1	1408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGGCTGG	NONE	.	.	hmmpanther:PTHR12945,PIRSF_domain:PIRSF038170	.	.	ENSP00000203001	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000203001	Transcript	.	.	ENSG00000089195	20900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	deleterious_low_confidence(0.05)	.	TRM6_HUMAN	TRMT6	HGNC	B4DUV6_HUMAN	.	UPI000006D9E4	SNV	TRMT6,missense_variant,p.Leu300Phe,ENST00000453074,;TRMT6,missense_variant,p.Leu470Phe,ENST00000203001,;TRMT6,non_coding_transcript_exon_variant,,ENST00000466974,;TRMT6,non_coding_transcript_exon_variant,,ENST00000473131,;TRMT6,downstream_gene_variant,,ENST00000493972,;	1539	90	91	SUCCESS
RIMBP3	85376	.	GRCh37	22	20458622	20458622	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781768696	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	450	60	560	0	ENST00000426804.1:c.2680G>A	p.Val894Met	p.V894M	ENST00000426804	NM_015672.1	894	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS46665.1	2680	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACGAAGT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	rs781768696	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.438)	.	deleterious(0)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Val894Met,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3165	560	510	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	29	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	29	27	SUCCESS
MYO18B	84700	.	GRCh37	22	26348383	26348383	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	38	118	0	ENST00000536101.1:c.5964A>G	p.Arg1988=	p.R1988=	ENST00000536101		1988	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS54507.1	5964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGATTTGA	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	38/44	.	.	.	.	.	.	.	.	.	38/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,upstream_gene_variant,,ENST00000543971,;MYO18B,upstream_gene_variant,,ENST00000539544,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	6214	118	113	SUCCESS
TRMU	55687	.	GRCh37	22	46733707	46733707	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	115	0	ENST00000290846.4:c.114C>A	p.Asn38Lys	p.N38K	ENST00000290846	NM_018006.4	38	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS14075.1	114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACTGGGA	NONE	.	.	HAMAP:MF_00144,hmmpanther:PTHR11933,hmmpanther:PTHR11933:SF9,Gene3D:3.40.50.620,Pfam_domain:PF03054,TIGRFAM_domain:TIGR00420,Superfamily_domains:SSF52402	.	.	ENSP00000290846	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000290846	Transcript	.	.	ENSG00000100416	25481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTU1_HUMAN	TRMU	HGNC	.	.	UPI00000411E1	SNV	TRMU,missense_variant,p.Asn38Lys,ENST00000290846,;TRMU,missense_variant,p.Asn3Lys,ENST00000424260,;TRMU,missense_variant,p.Asn38Lys,ENST00000381019,;TRMU,non_coding_transcript_exon_variant,,ENST00000496831,;TRMU,non_coding_transcript_exon_variant,,ENST00000465378,;TRMU,non_coding_transcript_exon_variant,,ENST00000486620,;TRMU,non_coding_transcript_exon_variant,,ENST00000493556,;TRMU,non_coding_transcript_exon_variant,,ENST00000485175,;TRMU,downstream_gene_variant,,ENST00000476901,;TRMU,missense_variant,p.Asn38Lys,ENST00000457572,;TRMU,missense_variant,p.Asn38Lys,ENST00000456595,;TRMU,missense_variant,p.Asn38Lys,ENST00000441818,;TRMU,missense_variant,p.Asn38Lys,ENST00000453630,;TRMU,missense_variant,p.Asn38Lys,ENST00000381021,;	454	115	115	SUCCESS
CREG2	200407	.	GRCh37	2	102003699	102003699	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs974970002	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	37	6	ENST00000324768.5:c.221T>C	p.Phe74Ser	p.F74S	ENST00000324768	NM_153836.3	74	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS2052.1	221	MUTECT|MUSE	.	CGGGGAAGCTT	NONE	.	.	hmmpanther:PTHR13343:SF15,hmmpanther:PTHR13343,PIRSF_domain:PIRSF036911	.	.	ENSP00000315203	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000324768	Transcript	.	.	ENSG00000175874	14272	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.677)	.	deleterious(0.01)	.	CREG2_HUMAN	CREG2	HGNC	Q580X0_HUMAN,Q4ZFW3_HUMAN	.	UPI0000074776	SNV	CREG2,missense_variant,p.Phe74Ser,ENST00000324768,;CREG2,non_coding_transcript_exon_variant,,ENST00000486966,;CREG2,upstream_gene_variant,,ENST00000495455,;	359	43	41	SUCCESS
LRP1B	53353	.	GRCh37	2	141665597	141665597	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	52	198	0	ENST00000389484.3:c.3369A>T	p.Glu1123Asp	p.E1123D	ENST00000389484	NM_018557.2	1123	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS2182.1	3369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCTTCGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:1n7dA02,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000374135	.	22/91	.	.	.	.	.	.	.	.	.	22/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Glu1123Asp,ENST00000389484,;LRP1B,missense_variant,p.Glu268Asp,ENST00000434794,;	4341	198	196	SUCCESS
TNFAIP6	7130	.	GRCh37	2	152235980	152235981	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs759969484	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	153	29	154	0	ENST00000243347.3:c.773dup	p.Asn258LysfsTer10	p.N258Kfs*10	ENST00000243347	NM_007115.3	256	gga/ggAa	0	.	.	.	.	.	A	G/GX	protein_coding	YES	CCDS2193.1	767-768	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAGGAAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24038	.	.	ENSP00000243347	.	6/6	.	.	.	.	.	.	.	.	rs759969484	6/6	PASS	ENST00000243347	Transcript	.	.	ENSG00000123610	11898	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSG6_HUMAN	TNFAIP6	HGNC	.	.	UPI0000071080	insertion	TNFAIP6,frameshift_variant,p.Asn258LysfsTer10,ENST00000243347,;	842-843	154	182	SUCCESS
NBAS	51594	.	GRCh37	2	15651378	15651378	+	synonymous_variant	Silent	SNP	C	C	T	rs746249157	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	59	243	0	ENST00000281513.5:c.843G>A	p.Pro281=	p.P281=	ENST00000281513	NM_015909.3	281	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1685.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATACGGTGA	NONE	.	.	Superfamily_domains:SSF50969,Pfam_domain:PF15492,hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	10/52	.	.	.	.	.	.	.	.	rs746249157	10/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,synonymous_variant,p.%3D,ENST00000441750,;NBAS,synonymous_variant,p.%3D,ENST00000281513,;NBAS,synonymous_variant,p.%3D,ENST00000427792,;	869	243	216	SUCCESS
SLC25A12	8604	.	GRCh37	2	172650192	172650192	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	21	118	0	ENST00000422440.2:c.1391C>A	p.Pro464His	p.P464H	ENST00000422440	NM_003705.4	464	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS33327.1	1391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGGTCCC	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF204,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000388658	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.07)	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,missense_variant,p.Pro464His,ENST00000422440,;SLC25A12,missense_variant,p.Pro357His,ENST00000392592,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,upstream_gene_variant,,ENST00000472070,;	1429	118	108	SUCCESS
RAD51AP2	729475	.	GRCh37	2	17698736	17698737	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs760866110	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	86	0	ENST00000399080.2:c.946dup	p.Thr316AsnfsTer13	p.T316Nfs*13	ENST00000399080	NM_001099218.2	316	act/aAct	0	T:0.0003	.	.	.	.	T	T/NX	protein_coding	YES	CCDS42656.1	946-947	INDELOCATOR|VARSCANI	.	CTACAGTTTTT	CODON|p.T316fs*2|c.946delA|6	byFrequency	.	.	.	T:0.0001	ENSP00000382030	.	1/3	.	.	.	.	.	.	.	.	rs760866110,COSM1263725	1/3	PASS	ENST00000399080	Transcript	.	.	ENSG00000214842	34417	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	R51A2_HUMAN	RAD51AP2	HGNC	.	.	UPI0000418FD4	insertion	RAD51AP2,frameshift_variant,p.Thr316AsnfsTer13,ENST00000399080,;	970-971	86	67	SUCCESS
PUM2	23369	.	GRCh37	2	20490528	20490528	+	synonymous_variant	Silent	SNP	C	C	T	rs748049050	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	38	197	0	ENST00000338086.5:c.1176G>A	p.Gln392=	p.Q392=	ENST00000338086	NM_015317.1	392	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS1698.1	1176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCTGACC	NONE	.	.	hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537	.	.	ENSP00000338173	.	9/20	.	.	.	.	.	.	.	.	rs748049050	9/20	PASS	ENST00000338086	Transcript	.	.	ENSG00000055917	14958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUM2_HUMAN	PUM2	HGNC	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN	.	UPI0000001665	SNV	PUM2,synonymous_variant,p.%3D,ENST00000403432,;PUM2,synonymous_variant,p.%3D,ENST00000319801,;PUM2,synonymous_variant,p.%3D,ENST00000338086,;PUM2,synonymous_variant,p.%3D,ENST00000440577,;PUM2,synonymous_variant,p.%3D,ENST00000536417,;PUM2,synonymous_variant,p.%3D,ENST00000361078,;	1199	197	160	SUCCESS
IFT172	26160	.	GRCh37	2	27676861	27676861	+	synonymous_variant	Silent	SNP	G	G	A	rs773641257	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	36	151	0	ENST00000260570.3:c.3699C>T	p.Leu1233=	p.L1233=	ENST00000260570	NM_015662.1	1233	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1755.1	3699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTGAGGGC	NONE	byFrequency	.	hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	.	.	ENSP00000260570	.	33/48	.	.	.	.	.	.	.	.	rs773641257	33/48	PASS	ENST00000260570	Transcript	.	.	ENSG00000138002	30391	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF172_HUMAN	IFT172	HGNC	H7C161_HUMAN	.	UPI0000353ABB	SNV	IFT172,synonymous_variant,p.%3D,ENST00000443889,;IFT172,synonymous_variant,p.%3D,ENST00000260570,;IFT172,synonymous_variant,p.%3D,ENST00000450564,;IFT172,synonymous_variant,p.%3D,ENST00000509128,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,upstream_gene_variant,,ENST00000475909,;IFT172,downstream_gene_variant,,ENST00000476693,;AC074117.13,upstream_gene_variant,,ENST00000417130,;	3803	152	144	SUCCESS
VIT	5212	.	GRCh37	2	37041407	37041407	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	99	0	ENST00000389975.3:c.1940A>C	p.His647Pro	p.H647P	ENST00000389975	NM_001177970.1	647	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS33180.1	1985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCACTCCT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF3,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000368544	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000379242	Transcript	.	.	ENSG00000205221	12697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VITRN_HUMAN	VIT	HGNC	C9J6F5_HUMAN	.	UPI000006E0F8	SNV	VIT,missense_variant,p.His599Pro,ENST00000404084,;VIT,missense_variant,p.His647Pro,ENST00000389975,;VIT,missense_variant,p.His662Pro,ENST00000379242,;VIT,missense_variant,p.His626Pro,ENST00000401530,;VIT,missense_variant,p.His625Pro,ENST00000379241,;VIT,missense_variant,p.His316Pro,ENST00000497382,;	2287	99	80	SUCCESS
WHSC1	0	.	GRCh37	4	1961231	1961231	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	57	183	0	ENST00000382895.3:c.3019A>G	p.Thr1007Ala	p.T1007A	ENST00000382895	NM_133330.2	1007	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33940.1	3019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACACAGCG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Gene3D:2.170.270.10,Superfamily_domains:SSF82199	.	.	ENSP00000372351	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.18)	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,missense_variant,p.Thr1007Ala,ENST00000508803,;WHSC1,missense_variant,p.Thr355Ala,ENST00000382888,;WHSC1,missense_variant,p.Thr1007Ala,ENST00000382892,;WHSC1,missense_variant,p.Thr1007Ala,ENST00000382895,;WHSC1,missense_variant,p.Thr1007Ala,ENST00000382891,;WHSC1,downstream_gene_variant,,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,downstream_gene_variant,,ENST00000503207,;WHSC1,downstream_gene_variant,,ENST00000502425,;WHSC1,downstream_gene_variant,,ENST00000505643,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,downstream_gene_variant,,ENST00000507094,;AL132868.1,downstream_gene_variant,,ENST00000327785,;	3450	183	134	SUCCESS
TLR6	10333	.	GRCh37	4	38829121	38829121	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	41	127	0	ENST00000381950.1:c.1974T>A	p.Ser658Arg	p.S658R	ENST00000381950		658	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS3446.1	1974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCACTTTT	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,Pfam_domain:PF01582,Gene3D:3.40.50.10140,PIRSF_domain:PIRSF037595,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000389600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000436693	Transcript	.	.	ENSG00000174130	16711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.01)	.	TLR6_HUMAN	TLR6	HGNC	D6RAV7_HUMAN,D6R979_HUMAN	.	UPI000013EE02	SNV	TLR6,missense_variant,p.Ser658Arg,ENST00000381950,;TLR6,missense_variant,p.Ser658Arg,ENST00000436693,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	2094	127	82	SUCCESS
TMPRSS11E	28983	.	GRCh37	4	69343097	69343097	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1398683513	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	248	161	569	1	ENST00000305363.4:c.718C>A	p.Pro240Thr	p.P240T	ENST00000305363	NM_014058.3	240	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33993.1	718	RADIA|VARSCANS	.	AGAACCCTGCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF65,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	.	ENSP00000307519	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000305363	Transcript	.	.	ENSG00000087128	24465	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.894)	.	deleterious(0.02)	.	TM11E_HUMAN	TMPRSS11E	HGNC	Q4W5P3_HUMAN	.	UPI00000389F7	SNV	TMPRSS11E,missense_variant,p.Pro240Thr,ENST00000305363,;TMPRSS11E,3_prime_UTR_variant,,ENST00000510647,;	782	570	409	SUCCESS
PCDHA12	56137	.	GRCh37	5	140255592	140255592	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	178	0	ENST00000398631.2:c.535G>T	p.Glu179Ter	p.E179*	ENST00000398631	NM_018903.2	179	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47285.1	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGAGCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,stop_gained,p.Glu179Ter,ENST00000398631,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	535	178	97	SUCCESS
SCAND3	0	.	GRCh37	6	28539781	28539781	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	49	201	0	ENST00000452236.2:c.3885A>C	p.Leu1295Phe	p.L1295F	ENST00000452236	NM_052923.1	1295	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS34355.1	3885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTTAAACT	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF90,Pfam_domain:PF05699,Superfamily_domains:SSF53098	.	.	ENSP00000395259	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000452236	Transcript	.	.	ENSG00000232040	13851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0.03)	.	SCND3_HUMAN	SCAND3	HGNC	.	.	UPI00001618B7	SNV	SCAND3,missense_variant,p.Leu1295Phe,ENST00000452236,;SCAND3,downstream_gene_variant,,ENST00000530247,;	4503	201	218	SUCCESS
GUCA1A	2978	.	GRCh37	6	42146134	42146134	+	synonymous_variant	Silent	SNP	C	C	T	rs1270658005	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	73	0	ENST00000053469.4:c.318C>T	p.Cys106=	p.C106=	ENST00000053469	NM_000409.3	106	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS4864.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCATTGA	NONE	.	.	Prints_domain:PR00450,Superfamily_domains:SSF47473,SMART_domains:SM00054,Pfam_domain:PF13499,Gene3D:1.10.238.10,PROSITE_patterns:PS00018,hmmpanther:PTHR23055:SF13,hmmpanther:PTHR23055,PROSITE_profiles:PS50222	.	.	ENSP00000377784	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000394237	Transcript	.	.	ENSG00000048545	4678	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC1A_HUMAN	GUCA1A	HGNC	A6PVH5_HUMAN	.	UPI0000001C22	SNV	GUCA1A,synonymous_variant,p.%3D,ENST00000372958,;GUCA1A,synonymous_variant,p.%3D,ENST00000541991,;GUCA1A,synonymous_variant,p.%3D,ENST00000394237,;GUCA1A,synonymous_variant,p.%3D,ENST00000053469,;GUCA1A,downstream_gene_variant,,ENST00000418175,;	1294	73	52	SUCCESS
CAPN11	11131	.	GRCh37	6	44148397	44148397	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	98	0	ENST00000398776.1:c.1744G>T	p.Glu582Ter	p.E582*	ENST00000398776	NM_007058.3	582	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47436.1	1744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGAGGTG	NONE	.	.	hmmpanther:PTHR10183:SF269,hmmpanther:PTHR10183,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000381758	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000398776	Transcript	.	.	ENSG00000137225	1478	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN11_HUMAN	CAPN11	HGNC	.	.	UPI00000383D5	SNV	CAPN11,stop_gained,p.Glu582Ter,ENST00000398776,;CAPN11,stop_gained,p.Glu582Ter,ENST00000542245,;CAPN11,splice_region_variant,,ENST00000533604,;CAPN11,non_coding_transcript_exon_variant,,ENST00000524554,;	1782	98	105	SUCCESS
PHF3	23469	.	GRCh37	6	64408443	64408443	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	340	112	479	0	ENST00000262043.3:c.2930A>G	p.Tyr977Cys	p.Y977C	ENST00000262043		977	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4966.1	2930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATATAAGA	NONE	.	.	Superfamily_domains:0037100,SMART_domains:SM00510,Gene3D:1enwA00,Pfam_domain:PF07500,hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914,PROSITE_profiles:PS51321	.	.	ENSP00000262043	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000262043	Transcript	.	.	ENSG00000118482	8921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PHF3_HUMAN	PHF3	HGNC	E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN	.	UPI000007154D	SNV	PHF3,missense_variant,p.Tyr977Cys,ENST00000393387,;PHF3,missense_variant,p.Tyr791Cys,ENST00000506783,;PHF3,missense_variant,p.Tyr246Cys,ENST00000515594,;PHF3,missense_variant,p.Tyr977Cys,ENST00000262043,;PHF3,downstream_gene_variant,,ENST00000481385,;PHF3,downstream_gene_variant,,ENST00000494284,;PHF3,upstream_gene_variant,,ENST00000503248,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	3270	479	452	SUCCESS
RINT1	60561	.	GRCh37	7	105205709	105205709	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	rs771142191	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	80	0	ENST00000257700.2:c.1887-15A>G		p.*629*	ENST00000257700	NM_021930.4			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAATGTGT	NONE	.	.	.	.	.	ENSP00000417841	.	5/5	.	.	.	.	.	.	.	.	rs771142191	5/5	PASS	ENST00000485614	Transcript	.	.	ENSG00000185055	34531	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EFCAB10	HGNC	J3KR52_HUMAN	.	UPI000020F8A0	SNV	EFCAB10,3_prime_UTR_variant,,ENST00000480514,;EFCAB10,3_prime_UTR_variant,,ENST00000485614,;RINT1,intron_variant,,ENST00000257700,;EFCAB10,downstream_gene_variant,,ENST00000486180,;EFCAB10,downstream_gene_variant,,ENST00000460135,;EFCAB10,non_coding_transcript_exon_variant,,ENST00000469099,;EFCAB10,downstream_gene_variant,,ENST00000490493,;RINT1,intron_variant,,ENST00000497979,;	770	80	64	SUCCESS
ASB10	136371	.	GRCh37	7	150883974	150883974	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	109	0	ENST00000420175.2:c.244G>C	p.Ala82Pro	p.A82P	ENST00000420175		82	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS47750.2	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCCAGGC	NONE	.	.	hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,Superfamily_domains:SSF48403	.	.	ENSP00000391137	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.07)	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Ala82Pro,ENST00000275838,;ASB10,missense_variant,p.Ala127Pro,ENST00000434669,;ASB10,missense_variant,p.Ala82Pro,ENST00000420175,;ASB10,missense_variant,p.Ala127Pro,ENST00000422024,;ASB10,intron_variant,,ENST00000377867,;ASB10,3_prime_UTR_variant,,ENST00000415615,;IQCA1P1,downstream_gene_variant,,ENST00000453127,;	269	109	106	SUCCESS
HOXA10	3206	.	GRCh37	7	27211712	27211712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	152	0	ENST00000283921.4:c.1039C>A	p.Gln347Lys	p.Q347K	ENST00000283921	NM_018951.3	347	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5410.2	1039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGGTGCT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF139,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000283921	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000283921	Transcript	.	.	ENSG00000253293	5100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HXA10_HUMAN	HOXA10	HGNC	.	.	UPI0000EE42DA	SNV	HOXA10,missense_variant,p.Gln31Lys,ENST00000396344,;HOXA10,missense_variant,p.Gln347Lys,ENST00000283921,;RP1-170O19.20,intron_variant,,ENST00000470747,;MIR196B,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10,non_coding_transcript_exon_variant,,ENST00000519593,;HOXA10,non_coding_transcript_exon_variant,,ENST00000521421,;HOXA10,non_coding_transcript_exon_variant,,ENST00000524368,;RP1-170O19.20,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000489695,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA9,upstream_gene_variant,,ENST00000487384,;	1039	152	123	SUCCESS
DAGLB	221955	.	GRCh37	7	6474641	6474641	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1414035654	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	24	111	0	ENST00000297056.6:c.430A>G	p.Ile144Val	p.I144V	ENST00000297056	NM_139179.3	144	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5350.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGATGATGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21493:SF8,hmmpanther:PTHR21493	.	.	ENSP00000297056	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000297056	Transcript	.	.	ENSG00000164535	28923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.33)	.	DGLB_HUMAN	DAGLB	HGNC	E7ET49_HUMAN,B3KR38_HUMAN	.	UPI000006E01F	SNV	DAGLB,missense_variant,p.Ile17Val,ENST00000428902,;DAGLB,missense_variant,p.Ile144Val,ENST00000297056,;DAGLB,missense_variant,p.Ile103Val,ENST00000436575,;DAGLB,intron_variant,,ENST00000421761,;DAGLB,intron_variant,,ENST00000425398,;DAGLB,intron_variant,,ENST00000432248,;DAGLB,downstream_gene_variant,,ENST00000479922,;DAGLB,intron_variant,,ENST00000454738,;	600	111	103	SUCCESS
SNX31	169166	.	GRCh37	8	101624286	101624286	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	11	116	1	ENST00000311812.2:c.553C>T	p.Pro185Ser	p.P185S	ENST00000311812	NM_152628.3	185	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6288.1	553	RADIA|MUTECT|VARSCANS	.	ATAAGGGAGTT	NONE	.	.	hmmpanther:PTHR12431:SF15,hmmpanther:PTHR12431	.	.	ENSP00000312368	.	7/14	.	.	.	.	.	.	.	.	COSM228494	7/14	PASS	ENST00000311812	Transcript	.	.	ENSG00000174226	28605	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.973)	.	deleterious(0)	1	SNX31_HUMAN	SNX31	HGNC	E5RJK2_HUMAN	.	UPI000004A790	SNV	SNX31,missense_variant,p.Pro86Ser,ENST00000428383,;SNX31,missense_variant,p.Pro119Ser,ENST00000520352,;SNX31,missense_variant,p.Pro185Ser,ENST00000311812,;	704	117	103	SUCCESS
CDH17	1015	.	GRCh37	8	95161092	95161092	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs558415835	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	69	0	ENST00000027335.3:c.1807A>T	p.Arg603Trp	p.R603W	ENST00000027335	NM_004063.3	603	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6260.1	1807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCTCAGTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000027335	.	14/18	.	.	.	.	.	.	.	.	rs558415835	14/18	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.875)	.	deleterious(0)	.	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,missense_variant,p.Arg389Trp,ENST00000441892,;CDH17,missense_variant,p.Arg603Trp,ENST00000450165,;CDH17,missense_variant,p.Arg603Trp,ENST00000027335,;CDH17,missense_variant,p.Glu83Val,ENST00000520952,;	1932	69	64	SUCCESS
WDR38	401551	.	GRCh37	9	127616557	127616557	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	50	0	ENST00000373574.1:c.143G>A	p.Trp48Ter	p.W48*	ENST00000373574	NM_001045476.2	48	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS43876.1	143	MUTECT|MUSE	.	TGGCTGGGAGA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362677	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000373574	Transcript	.	.	ENSG00000136918	23745	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR38_HUMAN	WDR38	HGNC	.	.	UPI00004A0D82	SNV	WDR38,stop_gained,p.Trp48Ter,ENST00000373574,;RPL35,downstream_gene_variant,,ENST00000348462,;RPL35,downstream_gene_variant,,ENST00000373570,;RPL35,downstream_gene_variant,,ENST00000493018,;RPL35,downstream_gene_variant,,ENST00000487431,;	199	50	35	SUCCESS
RALGPS1	9649	.	GRCh37	9	129831597	129831597	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	108	0	ENST00000259351.5:c.572del	p.Ile191ThrfsTer4	p.I191Tfs*4	ENST00000259351	NM_014636.2	191	aTc/ac	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS35143.1	572	INDELOCATOR*|VARSCANI*|PINDEL	.	AATATATCCGAA	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF180,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000259351	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000259351	Transcript	.	.	ENSG00000136828	16851	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPS1_HUMAN	RALGPS1	HGNC	.	.	UPI000006D3AF	deletion	RALGPS1,frameshift_variant,p.Ile161ThrfsTer4,ENST00000319107,;RALGPS1,frameshift_variant,p.Ile191ThrfsTer4,ENST00000373436,;RALGPS1,frameshift_variant,p.Ile191ThrfsTer4,ENST00000424082,;RALGPS1,frameshift_variant,p.Ile191ThrfsTer4,ENST00000394022,;RALGPS1,frameshift_variant,p.Ile191ThrfsTer4,ENST00000259351,;RALGPS1,frameshift_variant,p.Ile191ThrfsTer4,ENST00000373434,;RALGPS1,non_coding_transcript_exon_variant,,ENST00000477700,;RALGPS1,non_coding_transcript_exon_variant,,ENST00000373439,;	839	108	114	SUCCESS
ST6GALNAC6	30815	.	GRCh37	9	130649801	130649801	+	synonymous_variant	Silent	SNP	G	G	A	rs145170753	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	12	107	0	ENST00000291839.5:c.774C>T	p.His258=	p.H258=	ENST00000291839		258	caC/caT	0	A:0.0002	.	.	.	.	A	H	protein_coding	YES	CCDS6882.1	774	MUTECT|MUSE|VARSCANS	.	TGCACGTGGTC	NONE	byCluster	.	Pfam_domain:PF00777,hmmpanther:PTHR13713:SF45,hmmpanther:PTHR13713	.	A:0	ENSP00000362239	.	6/7	.	.	.	.	.	.	.	.	rs145170753	6/7	PASS	ENST00000373146	Transcript	.	.	ENSG00000160408	23364	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIA7F_HUMAN	ST6GALNAC6	HGNC	.	.	UPI0000073734	SNV	ST6GALNAC6,synonymous_variant,p.%3D,ENST00000373141,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000291839,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000542456,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000373146,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000373144,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000373142,;ST6GALNAC6,downstream_gene_variant,,ENST00000447681,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000485320,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000463086,;ST6GALNAC6,downstream_gene_variant,,ENST00000494541,;RP11-203J24.9,upstream_gene_variant,,ENST00000548587,;ST6GALNAC6,downstream_gene_variant,,ENST00000480417,;RP11-203J24.9,upstream_gene_variant,,ENST00000476274,;	954	107	129	SUCCESS
ASS1	445	.	GRCh37	9	133333917	133333917	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	48	188	0	ENST00000352480.5:c.304C>G	p.Gln102Glu	p.Q102E	ENST00000352480	NM_054012.3	102	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS6933.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAACAAGTG	NONE	.	.	HAMAP:MF_00005,hmmpanther:PTHR11587,hmmpanther:PTHR11587:SF1,Pfam_domain:PF00764,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00032,Superfamily_domains:SSF52402	.	.	ENSP00000361471	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000372394	Transcript	.	.	ENSG00000130707	758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	tolerated(0.1)	.	ASSY_HUMAN	ASS1	HGNC	Q8NFZ7_HUMAN,Q5T6L6_HUMAN,Q5T6L4_HUMAN	.	UPI00000015D6	SNV	ASS1,missense_variant,p.Gln102Glu,ENST00000372394,;ASS1,missense_variant,p.Gln102Glu,ENST00000352480,;ASS1,missense_variant,p.Gln102Glu,ENST00000443588,;ASS1,missense_variant,p.Gln102Glu,ENST00000372393,;ASS1,missense_variant,p.Gln102Glu,ENST00000422569,;ASS1,non_coding_transcript_exon_variant,,ENST00000467695,;	785	189	150	SUCCESS
TRPM6	140803	.	GRCh37	9	77401029	77401029	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	42	193	0	ENST00000360774.1:c.2680G>A	p.Glu894Lys	p.E894K	ENST00000360774	NM_017662.4	894	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6647.1	2680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTCTGAAA	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	21/39	.	.	.	.	.	.	.	.	.	21/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Glu894Lys,ENST00000451710,;TRPM6,missense_variant,p.Glu889Lys,ENST00000449912,;TRPM6,missense_variant,p.Glu889Lys,ENST00000361255,;TRPM6,missense_variant,p.Glu894Lys,ENST00000376864,;TRPM6,missense_variant,p.Glu894Lys,ENST00000360774,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;	2918	193	151	SUCCESS
SLC25A14	9016	.	GRCh37	X	129505619	129505619	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	38	0	ENST00000218197.5:c.936+1G>T		p.X312_splice	ENST00000218197	NM_022810.1	312		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14623.1	.	MUTECT|MUSE	.	TCATTGTATCC	NONE	.	.	.	.	.	ENSP00000218197	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000218197	Transcript	.	.	ENSG00000102078	10984	.	.	HIGH	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UCP5_HUMAN	SLC25A14	HGNC	Q5JY88_HUMAN,B4DMK1_HUMAN,B4DJN2_HUMAN	.	UPI0000137A3B	SNV	SLC25A14,splice_donor_variant,,ENST00000361980,;SLC25A14,splice_donor_variant,,ENST00000218197,;SLC25A14,splice_donor_variant,,ENST00000339231,;SLC25A14,downstream_gene_variant,,ENST00000543953,;SLC25A14,splice_donor_variant,,ENST00000478474,;SLC25A14,splice_donor_variant,,ENST00000465988,;	.	38	45	SUCCESS
ARSD	414	.	GRCh37	X	2827944	2827966	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCGGGAGCACCCCCGGCCAGT	GGCCGGGAGCACCCCCGGCCAGT	-	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	GGCCGGGAGCACCCCCGGCCAGT	GGCCGGGAGCACCCCCGGCCAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	87	172	268	0	ENST00000381154.1:c.1190_1212del	p.His397ArgfsTer32	p.H397Rfs*32	ENST00000381154	NM_001669.3	397	cACTGGCCGGGGGTGCTCCCGGCC/c	0	.	.	.	.	.	-	HWPGVLPA/X	protein_coding	YES	CCDS35196.1	1190-1212	VARSCANI*|PINDEL	.	TCGGCCGGCCGGGAGCACCCCCGGCCAGTGGAAG	NONE	.	.	Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF200	.	.	ENSP00000370546	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000381154	Transcript	.	.	ENSG00000006756	717	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARSD_HUMAN	ARSD	HGNC	.	.	UPI0000070902	deletion	ARSD,frameshift_variant,p.His397ArgfsTer32,ENST00000381154,;ARSD,coding_sequence_variant,,ENST00000458014,;ARSD-AS1,downstream_gene_variant,,ENST00000414053,;ARSD,intron_variant,,ENST00000495294,;ARSD,downstream_gene_variant,,ENST00000217890,;ARSD,downstream_gene_variant,,ENST00000481340,;	1266-1288	268	259	SUCCESS
RIBC1	158787	.	GRCh37	X	53457918	53457918	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	97	0	ENST00000375327.3:c.1122T>C	p.Phe374=	p.F374=	ENST00000375327	NM_001031745.3	374	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS35299.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTAACAC	NONE	.	.	Pfam_domain:PF05914,hmmpanther:PTHR14517:SF8,hmmpanther:PTHR14517	.	.	ENSP00000364476	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000375327	Transcript	.	.	ENSG00000158423	26537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIBC1_HUMAN	RIBC1	HGNC	.	.	UPI0000049C83	SNV	RIBC1,synonymous_variant,p.%3D,ENST00000375327,;HSD17B10,downstream_gene_variant,,ENST00000375304,;RIBC1,downstream_gene_variant,,ENST00000329209,;HSD17B10,downstream_gene_variant,,ENST00000375298,;RIBC1,downstream_gene_variant,,ENST00000414955,;RIBC1,downstream_gene_variant,,ENST00000457095,;HSD17B10,downstream_gene_variant,,ENST00000168216,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;HSD17B10,downstream_gene_variant,,ENST00000477706,;RIBC1,downstream_gene_variant,,ENST00000490702,;HSD17B10,downstream_gene_variant,,ENST00000495986,;	1275	97	151	SUCCESS
GOT1	2805	.	GRCh37	10	101180434	101180434	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	122	1	ENST00000370508.5:c.247T>G	p.Cys83Gly	p.C83G	ENST00000370508	NM_002079.2	83	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS7479.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGCTCC	NONE	.	.	hmmpanther:PTHR11879,hmmpanther:PTHR11879:SF3,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000359539	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000370508	Transcript	1	.	ENSG00000120053	4432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	deleterious(0.03)	.	AATC_HUMAN	GOT1	HGNC	.	.	UPI000013CA75	SNV	GOT1,missense_variant,p.Cys62Gly,ENST00000543866,;GOT1,missense_variant,p.Cys83Gly,ENST00000370508,;GOT1,non_coding_transcript_exon_variant,,ENST00000471741,;	275	123	106	SUCCESS
UPF2	26019	.	GRCh37	10	12041933	12041933	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	115	0	ENST00000356352.2:c.1730A>C	p.Asn577Thr	p.N577T	ENST00000356352		577	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS7086.1	1730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTTGGGT	NONE	.	.	hmmpanther:PTHR12839,Gene3D:1.25.40.180,Pfam_domain:PF02854,SMART_domains:SM00543,Superfamily_domains:SSF48371	.	.	ENSP00000348708	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000356352	Transcript	.	.	ENSG00000151461	17854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	tolerated(0.07)	.	RENT2_HUMAN	UPF2	HGNC	B4DHP3_HUMAN	.	UPI0000070D5E	SNV	UPF2,missense_variant,p.Asn577Thr,ENST00000357604,;UPF2,missense_variant,p.Asn577Thr,ENST00000356352,;UPF2,missense_variant,p.Asn577Thr,ENST00000397053,;	2204	115	72	SUCCESS
ADAM12	8038	.	GRCh37	10	127753571	127753571	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	37	0	ENST00000368679.4:c.1423-1G>T		p.X475_splice	ENST00000368679	NM_003474.4	475		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7653.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCTGGAA	NONE	.	.	.	.	.	ENSP00000357668	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	HIGH	13/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,splice_acceptor_variant,,ENST00000368679,;ADAM12,splice_acceptor_variant,,ENST00000368676,;ADAM12,splice_acceptor_variant,,ENST00000467145,;ADAM12,splice_acceptor_variant,,ENST00000482291,;	.	37	30	SUCCESS
ZMYND11	10771	.	GRCh37	10	226050	226050	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	119	0	ENST00000381591.1:c.98A>G	p.Asn33Ser	p.N33S	ENST00000381591		33	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7052.2	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAACATTG	NONE	.	.	hmmpanther:PTHR24102	.	.	ENSP00000381053	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000397962	Transcript	.	.	ENSG00000015171	16966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.05)	.	ZMY11_HUMAN	ZMYND11	HGNC	.	.	UPI0000458A5F	SNV	ZMYND11,missense_variant,p.Asn33Ser,ENST00000558098,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000402736,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000397962,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000397959,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000381591,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000602682,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000439456,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000509513,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000403354,;ZMYND11,missense_variant,p.Asn33Ser,ENST00000397955,;ZMYND11,5_prime_UTR_variant,,ENST00000381607,;ZMYND11,5_prime_UTR_variant,,ENST00000309776,;ZMYND11,5_prime_UTR_variant,,ENST00000381602,;ZMYND11,5_prime_UTR_variant,,ENST00000381584,;ZMYND11,5_prime_UTR_variant,,ENST00000381604,;	526	119	102	SUCCESS
NRBF2	29982	.	GRCh37	10	64893159	64893164	+	5_prime_UTR_variant	5'UTR	DEL	CCCTTG	CCCTTG	-	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	CCCTTG	CCCTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	36	0	ENST00000277746.6:c.-71_-66del		p.*24*	ENST00000277746	NM_030759.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7268.1	.	VARSCANI*|PINDEL	.	CGAGCTCCCTTGCAGTC	NONE	.	.	.	.	.	ENSP00000277746	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000277746	Transcript	.	.	ENSG00000148572	19692	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRBF2_HUMAN	NRBF2	HGNC	.	.	UPI000006D398	deletion	NRBF2,5_prime_UTR_variant,,ENST00000435510,;NRBF2,5_prime_UTR_variant,,ENST00000277746,;	110-115	36	21	SUCCESS
ACRV1	56	.	GRCh37	11	125550821	125550821	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	19	0	ENST00000533904.1:c.-146A>G		p.*49*	ENST00000533904				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8460.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAATGGGTT	NONE	.	.	.	.	.	ENSP00000432816	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000533904	Transcript	.	.	ENSG00000134940	127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPX_HUMAN	ACRV1	HGNC	.	.	UPI000012615C	SNV	ACRV1,5_prime_UTR_variant,,ENST00000425431,;ACRV1,5_prime_UTR_variant,,ENST00000453509,;ACRV1,5_prime_UTR_variant,,ENST00000533904,;ACRV1,5_prime_UTR_variant,,ENST00000353070,;ACRV1,5_prime_UTR_variant,,ENST00000445562,;ACRV1,5_prime_UTR_variant,,ENST00000345274,;ACRV1,5_prime_UTR_variant,,ENST00000348856,;ACRV1,upstream_gene_variant,,ENST00000527795,;ACRV1,upstream_gene_variant,,ENST00000530048,;ACRV1,upstream_gene_variant,,ENST00000315608,;CHEK1,downstream_gene_variant,,ENST00000428830,;CHEK1,downstream_gene_variant,,ENST00000498122,;	198	19	14	SUCCESS
KRTAP5-1	387264	.	GRCh37	11	1606214	1606214	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1448318120	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	164	0	ENST00000382171.2:c.266G>A	p.Cys89Tyr	p.C89Y	ENST00000382171	NM_001005922.1	89	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31330.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACAGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262	.	.	ENSP00000371606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382171	Transcript	.	.	ENSG00000205869	23596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	KRA51_HUMAN	KRTAP5-1	HGNC	.	.	UPI000037605D	SNV	KRTAP5-1,missense_variant,p.Cys89Tyr,ENST00000382171,;KRTAP5-AS1,intron_variant,,ENST00000534077,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;	300	164	105	SUCCESS
INTS5	80789	.	GRCh37	11	62415265	62415265	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	121	0	ENST00000330574.2:c.2287T>C	p.Phe763Leu	p.F763L	ENST00000330574	NM_030628.1	763	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS8027.1	2287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAACTTGG	NONE	.	.	Pfam_domain:PF14838,hmmpanther:PTHR31697,hmmpanther:PTHR31697:SF2	.	.	ENSP00000327889	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330574	Transcript	.	.	ENSG00000185085	29352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	INT5_HUMAN	INTS5	HGNC	.	.	UPI0000161948	SNV	INTS5,missense_variant,p.Phe763Leu,ENST00000330574,;GANAB,upstream_gene_variant,,ENST00000525994,;GANAB,upstream_gene_variant,,ENST00000356638,;GANAB,upstream_gene_variant,,ENST00000534779,;RP11-831H9.11,downstream_gene_variant,,ENST00000528405,;GANAB,upstream_gene_variant,,ENST00000540933,;GANAB,upstream_gene_variant,,ENST00000346178,;GANAB,upstream_gene_variant,,ENST00000534419,;GANAB,upstream_gene_variant,,ENST00000529737,;GANAB,upstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000526210,;GANAB,upstream_gene_variant,,ENST00000526392,;	2340	122	80	SUCCESS
MAP3K11	4296	.	GRCh37	11	65365864	65365864	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	39	201	0	ENST00000309100.3:c.2442C>A	p.Asp814Glu	p.D814E	ENST00000309100	NM_002419.3	814	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS8107.1	2442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGTCCCA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000556	.	.	ENSP00000309597	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000309100	Transcript	.	.	ENSG00000173327	6850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious_low_confidence(0.03)	.	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,missense_variant,p.Asp230Glu,ENST00000532507,;MAP3K11,missense_variant,p.Asp814Glu,ENST00000309100,;MAP3K11,missense_variant,p.Asp557Glu,ENST00000530153,;KCNK7,upstream_gene_variant,,ENST00000530380,;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000340313,;KCNK7,upstream_gene_variant,,ENST00000525254,;KCNK7,upstream_gene_variant,,ENST00000394216,;KCNK7,upstream_gene_variant,,ENST00000394217,;MAP3K11,downstream_gene_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,;	2928	201	116	SUCCESS
CORO1B	57175	.	GRCh37	11	67205935	67205935	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567152204	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	112	0	ENST00000341356.5:c.1382G>A	p.Arg461Gln	p.R461Q	ENST00000341356	NM_020441.2	461	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS8164.1	1382	MUTECT|MUSE	.	GGGCCCGCAGC	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF16	T:0	.	ENSP00000377471	T:0	12/12	.	.	.	.	.	.	.	.	rs567152204	12/12	PASS	ENST00000393893	Transcript	.	T:0.0002	ENSG00000172725	2253	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	T:0	tolerated(0.26)	.	COR1B_HUMAN	CORO1B	HGNC	.	.	UPI0000127C42	SNV	CORO1B,missense_variant,p.Arg461Gln,ENST00000341356,;CORO1B,missense_variant,p.Arg461Gln,ENST00000393893,;CORO1B,downstream_gene_variant,,ENST00000545016,;PTPRCAP,upstream_gene_variant,,ENST00000326294,;RPS6KB2,downstream_gene_variant,,ENST00000312629,;CORO1B,downstream_gene_variant,,ENST00000453768,;AP003419.16,upstream_gene_variant,,ENST00000535922,;CORO1B,non_coding_transcript_exon_variant,,ENST00000539724,;CORO1B,downstream_gene_variant,,ENST00000539970,;CORO1B,downstream_gene_variant,,ENST00000537010,;CORO1B,downstream_gene_variant,,ENST00000545736,;CORO1B,3_prime_UTR_variant,,ENST00000537042,;RPS6KB2,downstream_gene_variant,,ENST00000526268,;RPS6KB2,downstream_gene_variant,,ENST00000525088,;RPS6KB2,downstream_gene_variant,,ENST00000531765,;RPS6KB2,downstream_gene_variant,,ENST00000528964,;RPS6KB2,downstream_gene_variant,,ENST00000525996,;	1486	112	74	SUCCESS
SYCP3	50511	.	GRCh37	12	102125389	102125389	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	53	0	ENST00000266743.2:c.509A>T	p.Gln170Leu	p.Q170L	ENST00000266743		170	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9087.1	509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGGCTC	NONE	.	.	hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF12,Pfam_domain:PF04803	.	.	ENSP00000376658	.	7/9	.	.	.	.	.	.	.	.	COSM315702	7/9	PASS	ENST00000392927	Transcript	.	.	ENSG00000139351	18130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.985)	.	deleterious(0)	1	SYCP3_HUMAN	SYCP3	HGNC	.	.	UPI00000740A6	SNV	SYCP3,missense_variant,p.Gln170Leu,ENST00000392924,;SYCP3,missense_variant,p.Gln170Leu,ENST00000266743,;SYCP3,missense_variant,p.Gln170Leu,ENST00000392927,;CHPT1,downstream_gene_variant,,ENST00000229266,;CHPT1,downstream_gene_variant,,ENST00000549872,;SYCP3,non_coding_transcript_exon_variant,,ENST00000478238,;SYCP3,non_coding_transcript_exon_variant,,ENST00000478139,;CHPT1,intron_variant,,ENST00000546873,;CHPT1,downstream_gene_variant,,ENST00000552351,;CHPT1,downstream_gene_variant,,ENST00000549128,;CHPT1,downstream_gene_variant,,ENST00000552215,;	641	53	37	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43833794	43833794	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1476022407	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	81	0	ENST00000389420.3:c.2369A>G	p.Gln790Arg	p.Q790R	ENST00000389420	NM_025003.3	790	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS31778.2	2369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTTGCACA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF05986	.	.	ENSP00000374071	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	tolerated(0.35)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Gln790Arg,ENST00000553158,;ADAMTS20,missense_variant,p.Gln790Arg,ENST00000389420,;ADAMTS20,upstream_gene_variant,,ENST00000549670,;ADAMTS20,upstream_gene_variant,,ENST00000395541,;	2369	81	51	SUCCESS
DPY19L2	283417	.	GRCh37	12	63991681	63991681	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	115	336	2	ENST00000324472.4:c.1369A>G	p.Ser457Gly	p.S457G	ENST00000324472	NM_173812.4	457	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS31851.1	1369	RADIA|VARSCANS	.	ATCACTCAGGC	NONE	.	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF6,hmmpanther:PTHR31488	.	.	ENSP00000315988	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000324472	Transcript	.	.	ENSG00000177990	19414	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.57)	.	D19L2_HUMAN	DPY19L2	HGNC	F5H4G6_HUMAN,F5H1L7_HUMAN,B4E191_HUMAN	.	UPI000006EC0C	SNV	DPY19L2,missense_variant,p.Ser457Gly,ENST00000324472,;DPY19L2,missense_variant,p.Ser123Gly,ENST00000541083,;DPY19L2,missense_variant,p.Ser51Gly,ENST00000439061,;DPY19L2,3_prime_UTR_variant,,ENST00000306389,;	1553	338	317	SUCCESS
OLFM4	10562	.	GRCh37	13	53624703	53624703	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs542614490	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	40	154	0	ENST00000219022.2:c.1330C>A	p.Arg444Ser	p.R444S	ENST00000219022	NM_006418.4	444	Cgt/Agt	0	.	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS9440.1	1330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCGTACT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:0046203	T:0	.	ENSP00000219022	T:0	5/5	.	.	.	.	.	.	.	.	rs542614490	5/5	PASS	ENST00000219022	Transcript	.	T:0.0006	ENSG00000102837	17190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	T:0.0031	deleterious(0)	.	OLFM4_HUMAN	OLFM4	HGNC	.	.	UPI00000359F0	SNV	OLFM4,missense_variant,p.Arg444Ser,ENST00000219022,;	1408	154	108	SUCCESS
TOX4	9878	.	GRCh37	14	21955791	21955791	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1594427467	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	43	115	0	ENST00000448790.2:c.188T>C	p.Val63Ala	p.V63A	ENST00000448790		63	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32043.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTGGGCA	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF143	.	.	ENSP00000385102	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000405508	Transcript	.	.	ENSG00000092203	20161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.34)	.	TOX4_HUMAN	TOX4	HGNC	.	.	UPI000006EA81	SNV	TOX4,missense_variant,p.Val63Ala,ENST00000457430,;TOX4,missense_variant,p.Val86Ala,ENST00000405508,;TOX4,missense_variant,p.Val115Ala,ENST00000416256,;TOX4,missense_variant,p.Val63Ala,ENST00000448790,;TOX4,missense_variant,p.Val86Ala,ENST00000262709,;TOX4,non_coding_transcript_exon_variant,,ENST00000494242,;TOX4,3_prime_UTR_variant,,ENST00000455138,;TOX4,3_prime_UTR_variant,,ENST00000447695,;TOX4,non_coding_transcript_exon_variant,,ENST00000476180,;TOX4,non_coding_transcript_exon_variant,,ENST00000487242,;TOX4,intron_variant,,ENST00000455393,;TOX4,upstream_gene_variant,,ENST00000463119,;TOX4,upstream_gene_variant,,ENST00000473176,;	533	115	93	SUCCESS
HECTD1	25831	.	GRCh37	14	31597196	31597196	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	99	0	ENST00000399332.1:c.4776T>C	p.Gly1592=	p.G1592=	ENST00000399332	NM_015382.2	1592	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41939.1	4776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCACCCAT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	.	.	ENSP00000382269	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,synonymous_variant,p.%3D,ENST00000553957,;HECTD1,synonymous_variant,p.%3D,ENST00000399332,;HECTD1,synonymous_variant,p.%3D,ENST00000553700,;HECTD1,synonymous_variant,p.%3D,ENST00000557369,;HECTD1,upstream_gene_variant,,ENST00000554882,;HECTD1,synonymous_variant,p.%3D,ENST00000555915,;HECTD1,non_coding_transcript_exon_variant,,ENST00000556004,;HECTD1,upstream_gene_variant,,ENST00000555843,;	5265	99	73	SUCCESS
PAX9	5083	.	GRCh37	14	37135701	37135701	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	55	162	1	ENST00000361487.6:c.666G>A	p.Val222=	p.V222=	ENST00000361487		222	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9662.1	666	RADIA|MUTECT|MUSE	.	AAGGTGGAGGA	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF297	.	.	ENSP00000355245	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000361487	Transcript	.	.	ENSG00000198807	8623	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAX9_HUMAN	PAX9	HGNC	Q7Z4A7_HUMAN,Q2L4T1_HUMAN,E9KY40_HUMAN	.	UPI0000131377	SNV	PAX9,synonymous_variant,p.%3D,ENST00000402703,;PAX9,synonymous_variant,p.%3D,ENST00000554201,;PAX9,synonymous_variant,p.%3D,ENST00000361487,;PAX9,non_coding_transcript_exon_variant,,ENST00000557107,;PAX9,downstream_gene_variant,,ENST00000555639,;PAX9,downstream_gene_variant,,ENST00000553267,;	891	163	145	SUCCESS
MTHFD1	4522	.	GRCh37	14	64920556	64920556	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	47	127	0	ENST00000216605.8:c.2542A>C	p.Lys848Gln	p.K848Q	ENST00000216605	NM_005956.3	848	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS9763.1	2542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACAAAGCT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:1eg7A03,Pfam_domain:PF01268,hmmpanther:PTHR10025:SF30,hmmpanther:PTHR10025,HAMAP:MF_01543	.	.	ENSP00000216605	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000216605	Transcript	.	.	ENSG00000100714	7432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.32)	.	C1TC_HUMAN	MTHFD1	HGNC	.	.	UPI000013C6FA	SNV	MTHFD1,missense_variant,p.Lys848Gln,ENST00000216605,;MTHFD1,missense_variant,p.Lys33Gln,ENST00000557370,;MTHFD1,missense_variant,p.Lys904Gln,ENST00000545908,;ZBTB25,intron_variant,,ENST00000555220,;ZBTB25,intron_variant,,ENST00000555424,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000556284,;MTHFD1,downstream_gene_variant,,ENST00000553405,;MTHFD1,upstream_gene_variant,,ENST00000554353,;	2620	127	118	SUCCESS
PLEKHD1	400224	.	GRCh37	14	69994592	69994592	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	111	0	ENST00000322564.7:c.1294C>T	p.Arg432Cys	p.R432C	ENST00000322564	NM_001161498.1	432	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS53903.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCGCCGC	NONE	.	.	hmmpanther:PTHR14383	.	.	ENSP00000317175	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000322564	Transcript	.	.	ENSG00000175985	20148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PLHD1_HUMAN	PLEKHD1	HGNC	.	.	UPI0000EE334F	SNV	PLEKHD1,missense_variant,p.Arg432Cys,ENST00000322564,;	1506	111	80	SUCCESS
UNC79	57578	.	GRCh37	14	94139742	94139742	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	92	0	ENST00000393151.2:c.6799C>T	p.Leu2267=	p.L2267=	ENST00000393151		2267	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9911.2	6268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCTGCAG	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	42/50	.	.	.	.	.	.	.	.	.	42/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,synonymous_variant,p.%3D,ENST00000393151,;UNC79,synonymous_variant,p.%3D,ENST00000256339,;UNC79,synonymous_variant,p.%3D,ENST00000553484,;UNC79,synonymous_variant,p.%3D,ENST00000555664,;	6923	92	76	SUCCESS
BAHD1	22893	.	GRCh37	15	40751536	40751536	+	synonymous_variant	Silent	SNP	A	A	G	rs144909314	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	139	0	ENST00000416165.1:c.873A>G	p.Pro291=	p.P291=	ENST00000416165	NM_014952.3	291	ccA/ccG	0	C:0.0041	C:0.0045	.	C:0	.	G	P	protein_coding	YES	CCDS10058.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCATCCGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12505	C:0	C:0	ENSP00000396976	C:0	2/7	.	.	.	.	.	.	.	.	rs144909314	2/7	PASS	ENST00000416165	Transcript	.	C:0.0012	ENSG00000140320	29153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	BAHD1_HUMAN	BAHD1	HGNC	.	.	UPI000013D778	SNV	BAHD1,synonymous_variant,p.%3D,ENST00000560846,;BAHD1,synonymous_variant,p.%3D,ENST00000416165,;BAHD1,synonymous_variant,p.%3D,ENST00000561234,;RP11-64K12.8,downstream_gene_variant,,ENST00000559730,;RP11-64K12.9,upstream_gene_variant,,ENST00000558601,;	944	139	101	SUCCESS
DMXL2	23312	.	GRCh37	15	51839504	51839504	+	synonymous_variant	Silent	SNP	T	T	C	rs758262028	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	55	166	0	ENST00000251076.5:c.669A>G	p.Gln223=	p.Q223=	ENST00000251076	NM_015263.3	223	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS53946.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATTGAGT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	7/43	.	.	.	.	.	.	.	.	rs758262028	7/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,synonymous_variant,p.%3D,ENST00000449909,;DMXL2,synonymous_variant,p.%3D,ENST00000543779,;DMXL2,synonymous_variant,p.%3D,ENST00000251076,;DMXL2,downstream_gene_variant,,ENST00000560421,;	759	166	146	SUCCESS
CORO2B	10391	.	GRCh37	15	69011783	69011783	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	48	173	0	ENST00000566799.1:c.1203T>C	p.Tyr401=	p.Y401=	ENST00000566799		401	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS10229.2	1203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATAAGAA	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF17	.	.	ENSP00000454783	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000566799	Transcript	.	.	ENSG00000103647	2256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COR2B_HUMAN	CORO2B	HGNC	B3KWB4_HUMAN	.	UPI0000E59C95	SNV	CORO2B,synonymous_variant,p.%3D,ENST00000566799,;CORO2B,synonymous_variant,p.%3D,ENST00000540068,;CORO2B,synonymous_variant,p.%3D,ENST00000261861,;CORO2B,synonymous_variant,p.%3D,ENST00000543950,;	1232	173	116	SUCCESS
RCN2	5955	.	GRCh37	15	77224707	77224707	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs932630417	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	64	0	ENST00000394885.3:c.150T>A	p.Asp50Glu	p.D50E	ENST00000394885	NM_002902.2	50	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS10291.1	150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGTGGA	NONE	.	.	hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF32,Gene3D:1.10.238.10	.	.	ENSP00000378349	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000394885	Transcript	.	.	ENSG00000117906	9935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	RCN2_HUMAN	RCN2	HGNC	.	.	UPI0000000C65	SNV	RCN2,missense_variant,p.Asp50Glu,ENST00000320963,;RCN2,missense_variant,p.Asp50Glu,ENST00000394885,;RCN2,intron_variant,,ENST00000394883,;RCN2,missense_variant,p.Asp41Glu,ENST00000557805,;	373	64	60	SUCCESS
LINGO1	84894	.	GRCh37	15	77907565	77907565	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	83	1	ENST00000355300.6:c.684T>A	p.Asn228Lys	p.N228K	ENST00000355300	NM_032808.5	228	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS45313.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCATTGAT	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000347451	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355300	Transcript	.	.	ENSG00000169783	21205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.07)	.	LIGO1_HUMAN	LINGO1	HGNC	H3BQ49_HUMAN,H3BN48_HUMAN,H3BMW2_HUMAN,H3BMN3_HUMAN,H3BM59_HUMAN,H0YNK7_HUMAN	.	UPI00000377A0	SNV	LINGO1,missense_variant,p.Asn228Lys,ENST00000355300,;LINGO1,missense_variant,p.Asn222Lys,ENST00000561030,;LINGO1,missense_variant,p.Asn233Lys,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000564472,;	859	84	60	SUCCESS
ATF7IP2	80063	.	GRCh37	16	10524480	10524480	+	start_lost	Translation_Start_Site	SNP	G	G	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	118	358	2	ENST00000356427.2:c.3G>C	p.Met1?	p.M1?	ENST00000356427		1	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS10540.1	3	RADIA|SOMATICSNIPER|VARSCANS	.	AAGATGGCAAG	NONE	.	.	hmmpanther:PTHR23210:SF6,hmmpanther:PTHR23210	.	.	ENSP00000379808	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000396560	Transcript	.	.	ENSG00000166669	20397	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MCAF2_HUMAN	ATF7IP2	HGNC	H3BUP1_HUMAN,H3BR07_HUMAN,H3BPC9_HUMAN,H3BNE6_HUMAN,B4DKH3_HUMAN	.	UPI00001FEDD8	SNV	ATF7IP2,start_lost,p.Met1?,ENST00000396559,;ATF7IP2,start_lost,p.Met1?,ENST00000396560,;ATF7IP2,start_lost,p.Met1?,ENST00000324570,;ATF7IP2,start_lost,p.Met1?,ENST00000356427,;ATF7IP2,start_lost,p.Met1?,ENST00000562527,;ATF7IP2,start_lost,p.Met1?,ENST00000569939,;ATF7IP2,start_lost,p.Met1?,ENST00000562102,;ATF7IP2,start_lost,p.Met1?,ENST00000569900,;ATF7IP2,intron_variant,,ENST00000543967,;ATF7IP2,downstream_gene_variant,,ENST00000561932,;ATF7IP2,start_lost,p.Met1?,ENST00000535850,;ATF7IP2,start_lost,p.Met1?,ENST00000568027,;	230	360	272	SUCCESS
ZNF423	23090	.	GRCh37	16	49670990	49670990	+	synonymous_variant	Silent	SNP	G	G	A	rs764024246	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	86	0	ENST00000262383.2:c.2073C>T	p.His691=	p.H691=	ENST00000262383		691	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS32445.1	2073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAGTGGGT	NONE	.	.	hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385,Gene3D:3.30.40.10,Superfamily_domains:SSF57667	.	.	ENSP00000455426	.	4/8	.	.	.	.	.	.	.	.	rs764024246	4/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,synonymous_variant,p.%3D,ENST00000262383,;ZNF423,synonymous_variant,p.%3D,ENST00000563137,;ZNF423,synonymous_variant,p.%3D,ENST00000562520,;ZNF423,synonymous_variant,p.%3D,ENST00000561648,;ZNF423,synonymous_variant,p.%3D,ENST00000567169,;ZNF423,synonymous_variant,p.%3D,ENST00000535559,;ZNF423,synonymous_variant,p.%3D,ENST00000562871,;	2127	86	72	SUCCESS
MAP2K4	6416	.	GRCh37	17	12016647	12016648	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	.	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	90	0	ENST00000353533.5:c.783_784del	p.Asp263CysfsTer4	p.D263Cfs*4	ENST00000353533	NM_003010.3	261	acAAga/acga	0	.	.	.	.	.	-	TR/TX	protein_coding	YES	CCDS11162.1	783-784	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGACAAGAGAT	SITE|p.D263fs*4|c.783_784delAA|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF46,hmmpanther:PTHR24360,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262445	.	7/11	.	.	.	.	.	.	.	.	COSM436038	7/11	PASS	ENST00000353533	Transcript	.	.	ENSG00000065559	6844	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	MP2K4_HUMAN	MAP2K4	HGNC	J3QQR2_HUMAN,J3KTI6_HUMAN	.	UPI000012F48E	deletion	MAP2K4,frameshift_variant,p.Asp263CysfsTer4,ENST00000353533,;MAP2K4,frameshift_variant,p.Asp274CysfsTer4,ENST00000415385,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000579089,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000581941,;MAP2K4,3_prime_UTR_variant,,ENST00000602375,;MAP2K4,3_prime_UTR_variant,,ENST00000602811,;MAP2K4,3_prime_UTR_variant,,ENST00000538465,;MAP2K4,3_prime_UTR_variant,,ENST00000602537,;MAP2K4,3_prime_UTR_variant,,ENST00000602686,;MAP2K4,3_prime_UTR_variant,,ENST00000602305,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000585076,;MAP2K4,downstream_gene_variant,,ENST00000582183,;MAP2K4,downstream_gene_variant,,ENST00000582377,;RP11-471L13.3,upstream_gene_variant,,ENST00000582566,;	846-847	90	79	SUCCESS
PRPF8	10594	.	GRCh37	17	1584082	1584082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	159	0	ENST00000304992.6:c.1036G>T	p.Asp346Tyr	p.D346Y	ENST00000304992	NM_006445.3	346	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS11010.1	1036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTCAGGAT	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140	.	.	ENSP00000460348	.	7/42	.	.	.	.	.	.	.	.	.	7/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	deleterious(0)	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,missense_variant,p.Asp291Tyr,ENST00000577001,;PRPF8,missense_variant,p.Asp346Tyr,ENST00000572621,;PRPF8,missense_variant,p.Asp346Tyr,ENST00000304992,;PRPF8,non_coding_transcript_exon_variant,,ENST00000574728,;PRPF8,downstream_gene_variant,,ENST00000571346,;PRPF8,upstream_gene_variant,,ENST00000573716,;PRPF8,upstream_gene_variant,,ENST00000576407,;	1302	159	109	SUCCESS
TTC19	54902	.	GRCh37	17	15903501	15903501	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	657	78	948	0	ENST00000261647.5:c.254C>T	p.Ala85Val	p.A85V	ENST00000261647	NM_001271420.1	85	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11174.2	254	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCCGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13143,Gene3D:1.25.40.10	.	.	ENSP00000261647	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000261647	Transcript	.	.	ENSG00000011295	26006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.15)	.	TTC19_HUMAN	TTC19	HGNC	.	.	UPI0000042226	SNV	TTC19,missense_variant,p.Ala206Val,ENST00000486880,;TTC19,missense_variant,p.Ala85Val,ENST00000261647,;ZSWIM7,upstream_gene_variant,,ENST00000486655,;ZSWIM7,upstream_gene_variant,,ENST00000399277,;ZSWIM7,upstream_gene_variant,,ENST00000472495,;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;ZSWIM7,upstream_gene_variant,,ENST00000497719,;ZSWIM7,upstream_gene_variant,,ENST00000495825,;ZSWIM7,upstream_gene_variant,,ENST00000399280,;TTC19,missense_variant,p.Ala90Val,ENST00000470399,;TTC19,missense_variant,p.Ala107Val,ENST00000466729,;TTC19,missense_variant,p.Ala101Val,ENST00000475723,;TTC19,non_coding_transcript_exon_variant,,ENST00000583704,;ZSWIM7,upstream_gene_variant,,ENST00000491631,;ZSWIM7,upstream_gene_variant,,ENST00000585208,;ZSWIM7,upstream_gene_variant,,ENST00000579955,;ZSWIM7,upstream_gene_variant,,ENST00000476496,;ZSWIM7,upstream_gene_variant,,ENST00000486706,;ZSWIM7,upstream_gene_variant,,ENST00000460252,;ZSWIM7,upstream_gene_variant,,ENST00000490395,;ZSWIM7,upstream_gene_variant,,ENST00000474716,;ZSWIM7,upstream_gene_variant,,ENST00000460315,;ZSWIM7,upstream_gene_variant,,ENST00000584519,;	723	949	735	SUCCESS
TAOK1	57551	.	GRCh37	17	27849536	27849536	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	12	167	0	ENST00000261716.3:c.2147A>T	p.Lys716Met	p.K716M	ENST00000261716	NM_020791.2	716	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS32601.1	2147	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAAGGTAT	NONE	.	.	hmmpanther:PTHR24361:SF189,hmmpanther:PTHR24361	.	.	ENSP00000261716	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000261716	Transcript	.	.	ENSG00000160551	29259	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	TAOK1_HUMAN	TAOK1	HGNC	J3QS76_HUMAN	.	UPI000004A033	SNV	TAOK1,missense_variant,p.Lys716Met,ENST00000261716,;TAOK1,intron_variant,,ENST00000536202,;TAOK1,splice_region_variant,,ENST00000578653,;	2666	167	105	SUCCESS
ITGAE	3682	.	GRCh37	17	3664786	3664786	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	58	0	ENST00000263087.4:c.344C>T	p.Pro115Leu	p.P115L	ENST00000263087	NM_002208.4	115	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32531.1	344	MUTECT|MUSE	.	TGTGAGGCCGC	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF74	.	.	ENSP00000263087	.	5/31	.	.	.	.	.	.	.	.	.	5/31	PASS	ENST00000263087	Transcript	.	.	ENSG00000083457	6147	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.055)	.	deleterious(0.04)	.	ITAE_HUMAN	ITGAE	HGNC	.	.	UPI000049DE2D	SNV	ITGAE,missense_variant,p.Pro115Leu,ENST00000263087,;	443	58	44	SUCCESS
ATP6V0A1	535	.	GRCh37	17	40650998	40650998	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	161	0	ENST00000343619.4:c.1617G>A	p.Met539Ile	p.M539I	ENST00000343619	NM_001130021.1	539	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS45683.1	1638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGTCTGT	NONE	.	.	hmmpanther:PTHR11629:SF25,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000264649	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000264649	Transcript	.	.	ENSG00000033627	865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.16)	.	VPP1_HUMAN	ATP6V0A1	HGNC	K7EM24_HUMAN,K7ELZ6_HUMAN	.	UPI0000E59F9E	SNV	ATP6V0A1,missense_variant,p.Met496Ile,ENST00000585525,;ATP6V0A1,missense_variant,p.Met539Ile,ENST00000393829,;ATP6V0A1,missense_variant,p.Met539Ile,ENST00000343619,;ATP6V0A1,missense_variant,p.Met539Ile,ENST00000546249,;ATP6V0A1,missense_variant,p.Met496Ile,ENST00000537728,;ATP6V0A1,missense_variant,p.Met546Ile,ENST00000264649,;ATP6V0A1,missense_variant,p.Met185Ile,ENST00000544137,;ATP6V0A1,upstream_gene_variant,,ENST00000588138,;ATP6V0A1,upstream_gene_variant,,ENST00000586201,;MIR548AT,downstream_gene_variant,,ENST00000578714,;RP11-194N12.2,downstream_gene_variant,,ENST00000591343,;ATP6V0A1,downstream_gene_variant,,ENST00000586315,;ATP6V0A1,upstream_gene_variant,,ENST00000587510,;	1769	161	102	SUCCESS
ABCA5	23461	.	GRCh37	17	67285417	67285417	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	76	0	ENST00000392676.3:c.1803T>G	p.Asp601Glu	p.D601E	ENST00000392676		601	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS11685.1	1803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAAATCTAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000376443	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000392676	Transcript	.	.	ENSG00000154265	35	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(1)	.	ABCA5_HUMAN	ABCA5	HGNC	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN	.	UPI000013DD9E	SNV	ABCA5,missense_variant,p.Asp601Glu,ENST00000392676,;ABCA5,missense_variant,p.Asp601Glu,ENST00000588877,;ABCA5,missense_variant,p.Asp601Glu,ENST00000392677,;ABCA5,missense_variant,p.Asp601Glu,ENST00000593153,;ABCA5,missense_variant,p.Asp272Glu,ENST00000586995,;ABCA5,upstream_gene_variant,,ENST00000591234,;	1868	76	55	SUCCESS
KCNJ2	3759	.	GRCh37	17	68172062	68172062	+	synonymous_variant	Silent	SNP	C	C	A	rs751279819	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	35	117	0	ENST00000243457.3:c.882C>A	p.Ile294=	p.I294=	ENST00000243457	NM_000891.2	294	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11688.1	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCGTGGT	NONE	.	.	hmmpanther:PTHR11767:SF43,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	rs751279819,COSM4069099	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,synonymous_variant,p.%3D,ENST00000535240,;KCNJ2,synonymous_variant,p.%3D,ENST00000243457,;	1265	118	88	SUCCESS
SPEM1	374768	.	GRCh37	17	7324444	7324444	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	128	0	ENST00000323675.3:c.450C>A	p.Val150=	p.V150=	ENST00000323675	NM_199339.2	150	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42254.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCCCTGA	NONE	.	.	.	.	.	ENSP00000315554	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000323675	Transcript	.	.	ENSG00000181323	32429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEM1_HUMAN	SPEM1	HGNC	.	.	UPI000006DD8B	SNV	SPEM1,synonymous_variant,p.%3D,ENST00000323675,;C17orf74,upstream_gene_variant,,ENST00000333870,;NLGN2,downstream_gene_variant,,ENST00000302926,;NLGN2,downstream_gene_variant,,ENST00000575301,;C17orf74,upstream_gene_variant,,ENST00000574034,;RP11-104H15.7,intron_variant,,ENST00000575310,;	475	129	87	SUCCESS
GNAL	2774	.	GRCh37	18	11689826	11689826	+	synonymous_variant	Silent	SNP	G	G	C	rs1381154666	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	112	1	ENST00000334049.6:c.264G>C	p.Ala88=	p.A88=	ENST00000334049	NM_182978.3	88	gcG/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS11851.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGGCCAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10218:SF131,hmmpanther:PTHR10218,Pfam_domain:PF00503	.	.	ENSP00000334051	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000334049	Transcript	.	.	ENSG00000141404	4388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNAL_HUMAN	GNAL	HGNC	Q8N2B4_HUMAN,K7EQ80_HUMAN,K7EPE2_HUMAN	.	UPI000017DF81	SNV	GNAL,synonymous_variant,p.%3D,ENST00000334049,;GNAL,non_coding_transcript_exon_variant,,ENST00000585590,;	872	113	83	SUCCESS
DSC1	1823	.	GRCh37	18	28711904	28711904	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	31	0	ENST00000257198.5:c.2239-99C>T		p.*747*	ENST00000257198	NM_024421.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11894.1	.	MUTECT|MUSE	.	GCTGTGCCTCT	NONE	.	.	.	.	.	ENSP00000257198	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257198	Transcript	.	.	ENSG00000134765	3035	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSC1_HUMAN	DSC1	HGNC	.	.	UPI000006DF10	SNV	DSC1,intron_variant,,ENST00000257198,;DSC1,intron_variant,,ENST00000257197,;RP11-408H20.3,non_coding_transcript_exon_variant,,ENST00000582307,;RP11-408H20.2,intron_variant,,ENST00000581836,;	.	31	22	SUCCESS
SBNO2	22904	.	GRCh37	19	1109536	1109536	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1328557720	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	31	160	0	ENST00000361757.3:c.3185G>A	p.Gly1062Asp	p.G1062D	ENST00000361757	NM_014963.2	1062	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS45894.1	3185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCCCGTC	NONE	.	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706	.	.	ENSP00000354733	.	28/32	.	.	.	.	.	.	.	.	.	28/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.325)	.	tolerated(0.09)	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,missense_variant,p.Gly1005Asp,ENST00000438103,;SBNO2,missense_variant,p.Gly1052Asp,ENST00000587024,;SBNO2,missense_variant,p.Gly1062Asp,ENST00000361757,;GPX4,downstream_gene_variant,,ENST00000585362,;GPX4,downstream_gene_variant,,ENST00000587648,;GPX4,downstream_gene_variant,,ENST00000354171,;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000593032,;SBNO2,non_coding_transcript_exon_variant,,ENST00000587673,;SBNO2,non_coding_transcript_exon_variant,,ENST00000586109,;GPX4,downstream_gene_variant,,ENST00000587932,;GPX4,downstream_gene_variant,,ENST00000585480,;GPX4,downstream_gene_variant,,ENST00000592940,;	3423	160	96	SUCCESS
CACNA1A	773	.	GRCh37	19	13616903	13616903	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	522	328	1092	1	ENST00000360228.5:c.136A>C	p.Arg46=	p.R46=	ENST00000360228	NM_001127222.1	46	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS45998.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTTTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59	.	.	ENSP00000353362	.	1/47	.	.	.	.	.	.	.	.	.	1/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,synonymous_variant,p.%3D,ENST00000573710,;CACNA1A,synonymous_variant,p.%3D,ENST00000360228,;CACNA1A,intron_variant,,ENST00000574974,;	136	1093	850	SUCCESS
CEACAM5	1048	.	GRCh37	19	42221465	42221465	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	125	0	ENST00000221992.6:c.1050G>A	p.Gln350=	p.Q350=	ENST00000221992	NM_004363.2	350	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS12584.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGAACAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF113,hmmpanther:PTHR19955,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000221992	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000221992	Transcript	.	.	ENSG00000105388	1817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM5_HUMAN	CEACAM5	HGNC	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI000013C7E5	SNV	CEACAM5,synonymous_variant,p.%3D,ENST00000398599,;CEACAM5,synonymous_variant,p.%3D,ENST00000221992,;CEACAM5,synonymous_variant,p.%3D,ENST00000595113,;CEACAM5,synonymous_variant,p.%3D,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,intron_variant,,ENST00000595403,;CEACAM5,downstream_gene_variant,,ENST00000596606,;	1164	125	83	SUCCESS
PTPRS	5802	.	GRCh37	19	5244107	5244107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	50	0	ENST00000357368.4:c.1375G>T	p.Gly459Cys	p.G459C	ENST00000357368	NM_002850.3	459	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS45930.1	1375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCCGCGGA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	.	ENSP00000349932	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	SNV	PTPRS,missense_variant,p.Gly446Cys,ENST00000353284,;PTPRS,missense_variant,p.Gly459Cys,ENST00000587303,;PTPRS,missense_variant,p.Gly460Cys,ENST00000372412,;PTPRS,missense_variant,p.Gly446Cys,ENST00000588012,;PTPRS,missense_variant,p.Gly455Cys,ENST00000262963,;PTPRS,missense_variant,p.Gly459Cys,ENST00000357368,;PTPRS,missense_variant,p.Gly446Cys,ENST00000592099,;PTPRS,missense_variant,p.Gly446Cys,ENST00000348075,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;	1609	50	37	SUCCESS
LILRB3	11025	.	GRCh37	19	54726002	54726002	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	17	198	0	ENST00000245620.9:c.356G>T	p.Gly119Val	p.G119V	ENST00000245620		119	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46175.1	356	MUSE|VARSCANS	.	AGGCTCCTAGG	BUFFER|p.Y121Y|c.363C>T|3,BUFFER|p.Y121Y|c.363C>T|6	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000245620	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,missense_variant,p.Gly119Val,ENST00000424807,;LILRB3,missense_variant,p.Gly119Val,ENST00000407860,;LILRB3,missense_variant,p.Gly119Val,ENST00000445347,;LILRB3,missense_variant,p.Gly119Val,ENST00000391750,;LILRB3,missense_variant,p.Gly119Val,ENST00000245620,;LILRB3,missense_variant,p.Gly119Val,ENST00000346401,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,intron_variant,,ENST00000440558,;LILRA6,intron_variant,,ENST00000419410,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,missense_variant,p.Gly119Val,ENST00000414379,;LILRB3,splice_region_variant,,ENST00000468668,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;	358	198	128	SUCCESS
FUT6	2528	.	GRCh37	19	5832522	5832522	+	synonymous_variant	Silent	SNP	C	C	A	rs371867552	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	167	0	ENST00000286955.5:c.57G>T	p.Thr19=	p.T19=	ENST00000286955	NM_001040701.1	19	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12152.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGTGGT	NONE	.	.	hmmpanther:PTHR11929:SF134,hmmpanther:PTHR11929,Pfam_domain:PF00852	.	.	ENSP00000313398	.	3/3	.	.	.	.	.	.	.	.	rs371867552	3/3	PASS	ENST00000318336	Transcript	1	.	ENSG00000156413	4017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT6_HUMAN	FUT6	HGNC	E9PS22_HUMAN,E9PP56_HUMAN,E9PJB4_HUMAN,E9PJ18_HUMAN,E9PI36_HUMAN	.	UPI000012ADAC	SNV	FUT6,synonymous_variant,p.%3D,ENST00000528505,;FUT6,synonymous_variant,p.%3D,ENST00000286955,;FUT6,synonymous_variant,p.%3D,ENST00000531199,;FUT6,synonymous_variant,p.%3D,ENST00000532464,;FUT6,synonymous_variant,p.%3D,ENST00000529165,;FUT6,synonymous_variant,p.%3D,ENST00000527106,;FUT6,synonymous_variant,p.%3D,ENST00000318336,;FUT6,synonymous_variant,p.%3D,ENST00000524754,;FUT6,synonymous_variant,p.%3D,ENST00000531085,;FUT6,synonymous_variant,p.%3D,ENST00000592563,;NRTN,downstream_gene_variant,,ENST00000303212,;FUT6,downstream_gene_variant,,ENST00000526499,;	1252	167	100	SUCCESS
EPS8L3	79574	.	GRCh37	1	110293318	110293318	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	119	0	ENST00000361965.4:c.1734C>T	p.Ile578=	p.I578=	ENST00000361965		578	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS815.1	1737	MUTECT|MUSE	.	GACAGGATTCG	NONE	.	.	hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287	.	.	ENSP00000358820	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000369805	Transcript	.	.	ENSG00000198758	21297	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ES8L3_HUMAN	EPS8L3	HGNC	.	.	UPI00001613C9	SNV	EPS8L3,synonymous_variant,p.%3D,ENST00000369805,;EPS8L3,synonymous_variant,p.%3D,ENST00000361965,;EPS8L3,synonymous_variant,p.%3D,ENST00000361852,;RP4-735C1.4,intron_variant,,ENST00000431955,;EPS8L3,non_coding_transcript_exon_variant,,ENST00000498743,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,downstream_gene_variant,,ENST00000475725,;EPS8L3,downstream_gene_variant,,ENST00000482453,;EPS8L3,downstream_gene_variant,,ENST00000489465,;	1967	119	90	SUCCESS
ATAD3C	219293	.	GRCh37	1	1385968	1385968	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	135	0	ENST00000378785.2:c.-96G>A		p.*32*	ENST00000378785	NM_001039211.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44039.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGTGGAT	NONE	.	.	.	.	.	ENSP00000368062	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000378785	Transcript	.	.	ENSG00000215915	32151	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATD3C_HUMAN	ATAD3C	HGNC	.	.	UPI00001619C0	SNV	ATAD3C,5_prime_UTR_variant,,ENST00000378785,;ATAD3C,intron_variant,,ENST00000475091,;	900	136	82	SUCCESS
KCNN3	3782	.	GRCh37	1	154842095	154842095	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs76110919	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	17	193	0	ENST00000271915.4:c.346T>A	p.Ser116Thr	p.S116T	ENST00000271915	NM_001204087.1	116	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30880.1	346	MUTECT|MUSE	.	GGTGGAGTTGG	NONE	suspect|byCluster	.	hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153	.	.	ENSP00000271915	.	1/8	.	.	.	.	.	.	.	.	rs76110919	1/8	PASS	ENST00000271915	Transcript	.	.	ENSG00000143603	6292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.682)	.	deleterious_low_confidence(0.01)	.	.	KCNN3	HGNC	Q6JXY2_HUMAN	.	UPI000013D915	SNV	KCNN3,missense_variant,p.Ser116Thr,ENST00000271915,;KCNN3,upstream_gene_variant,,ENST00000358505,;	662	193	240	SUCCESS
SHC1	6464	.	GRCh37	1	154940971	154940971	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	64	79	0	ENST00000368445.5:c.750G>T	p.Gln250His	p.Q250H	ENST00000368445	NM_183001.4	250	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS44233.1	750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCTGTTT	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR10337:SF2,hmmpanther:PTHR10337,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000401303	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000448116	Transcript	.	.	ENSG00000160691	10840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0)	.	SHC1_HUMAN	SHC1	HGNC	Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN,B4DL02_HUMAN	.	UPI00002048B4	SNV	SHC1,missense_variant,p.Gln140His,ENST00000412170,;SHC1,missense_variant,p.Gln250His,ENST00000448116,;SHC1,missense_variant,p.Gln250His,ENST00000368445,;SHC1,missense_variant,p.Gln21His,ENST00000368449,;SHC1,missense_variant,p.Gln21His,ENST00000414115,;SHC1,missense_variant,p.Gln140His,ENST00000368453,;SHC1,missense_variant,p.Gln51His,ENST00000606391,;SHC1,missense_variant,p.Gln21His,ENST00000444179,;SHC1,missense_variant,p.Gln140His,ENST00000368450,;SHC1,upstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000366442,;SHC1,upstream_gene_variant,,ENST00000490667,;PYGO2,upstream_gene_variant,,ENST00000483463,;	971	79	97	SUCCESS
FLAD1	80308	.	GRCh37	1	154962803	154962805	+	intron_variant	Intron	DEL	TTT	TTT	-	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	TTT	TTT	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	92	0	ENST00000292180.3:c.1365-12_1365-10del		p.*455*	ENST00000292180	NM_025207.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1078.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTGTTTCTTCC	NONE	.	.	.	.	.	ENSP00000292180	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292180	Transcript	.	.	ENSG00000160688	24671	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FAD1_HUMAN	FLAD1	HGNC	Q5T196_HUMAN,Q5T190_HUMAN	.	UPI00000735B2	deletion	FLAD1,3_prime_UTR_variant,,ENST00000368433,;FLAD1,5_prime_UTR_variant,,ENST00000368428,;FLAD1,intron_variant,,ENST00000315144,;FLAD1,intron_variant,,ENST00000405236,;FLAD1,intron_variant,,ENST00000368432,;FLAD1,intron_variant,,ENST00000295530,;FLAD1,intron_variant,,ENST00000292180,;LENEP,upstream_gene_variant,,ENST00000392487,;FLAD1,downstream_gene_variant,,ENST00000368431,;FLAD1,intron_variant,,ENST00000489992,;FLAD1,intron_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000487371,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000481758,;LENEP,upstream_gene_variant,,ENST00000368427,;	.	92	102	SUCCESS
DARC	0	.	GRCh37	1	159176208	159176208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	32	99	0	ENST00000368122.2:c.979T>A	p.Ser327Thr	p.S327T	ENST00000368122	NM_002036.3	327	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS44252.1	985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTTCTCAT	NONE	.	.	hmmpanther:PTHR14181	.	.	ENSP00000357103	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368121	Transcript	.	.	ENSG00000213088	4035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.01)	.	ACKR1_HUMAN	DARC	HGNC	Q5Y7A1_HUMAN,Q5JY94_HUMAN,Q4VBN9_HUMAN	.	UPI000013E1B0	SNV	DARC,missense_variant,p.Ser327Thr,ENST00000368122,;DARC,missense_variant,p.Ser327Thr,ENST00000537147,;DARC,missense_variant,p.Ser329Thr,ENST00000368121,;CADM3,downstream_gene_variant,,ENST00000368124,;CADM3,downstream_gene_variant,,ENST00000368125,;DARC,downstream_gene_variant,,ENST00000435307,;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;	1008	99	118	SUCCESS
CROCC	9696	.	GRCh37	1	17298042	17298042	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	110	0	ENST00000375541.5:c.5867A>T	p.Gln1956Leu	p.Q1956L	ENST00000375541	NM_014675.3	1956	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS30616.1	5867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159	.	.	ENSP00000364691	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Gln1956Leu,ENST00000375541,;MFAP2,downstream_gene_variant,,ENST00000438542,;MFAP2,downstream_gene_variant,,ENST00000375534,;MFAP2,downstream_gene_variant,,ENST00000375535,;MFAP2,downstream_gene_variant,,ENST00000476788,;MFAP2,downstream_gene_variant,,ENST00000478684,;MFAP2,downstream_gene_variant,,ENST00000490075,;CROCC,downstream_gene_variant,,ENST00000465021,;CROCC,downstream_gene_variant,,ENST00000465291,;MFAP2,downstream_gene_variant,,ENST00000492598,;	5936	110	70	SUCCESS
HMCN1	83872	.	GRCh37	1	185986178	185986179	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	243	102	144	0	ENST00000271588.4:c.5276dup	p.Gly1760ArgfsTer17	p.G1760Rfs*17	ENST00000271588	NM_031935.2	1759	aca/aCca	0	.	.	.	.	.	C	T/TX	protein_coding	YES	CCDS30956.1	5275-5276	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGTGACAGGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	33/107	.	.	.	.	.	.	.	.	.	33/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	insertion	HMCN1,frameshift_variant,p.Gly1760ArgfsTer17,ENST00000367492,;HMCN1,frameshift_variant,p.Gly1760ArgfsTer17,ENST00000271588,;	5504-5505	144	345	SUCCESS
PRG4	10216	.	GRCh37	1	186281352	186281352	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	118	134	0	ENST00000445192.2:c.3839A>G	p.Lys1280Arg	p.K1280R	ENST00000445192	NM_005807.3	1280	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1369.1	3839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAAGTGCC	NONE	.	.	hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,Gene3D:2.110.10.10	.	.	ENSP00000399679	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,missense_variant,p.Lys1237Arg,ENST00000367486,;PRG4,missense_variant,p.Lys1239Arg,ENST00000367483,;PRG4,missense_variant,p.Lys1187Arg,ENST00000367485,;PRG4,missense_variant,p.Lys809Arg,ENST00000367484,;PRG4,missense_variant,p.Lys1280Arg,ENST00000445192,;TPR,3_prime_UTR_variant,,ENST00000367478,;PRG4,downstream_gene_variant,,ENST00000367482,;RNU6-1240P,upstream_gene_variant,,ENST00000365155,;	3884	134	186	SUCCESS
VWA5B1	127731	.	GRCh37	1	20644146	20644146	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	112	0	ENST00000375079.2:c.687C>A	p.Ile229=	p.I229=	ENST00000375079	NM_001039500.2	229	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	.	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCCGTGG	NONE	.	.	hmmpanther:PTHR10338:SF109,hmmpanther:PTHR10338	.	.	ENSP00000364220	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000375079	Transcript	.	.	ENSG00000158816	26538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VW5B1_HUMAN	VWA5B1	HGNC	E9PQ62_HUMAN,E9PP07_HUMAN	.	UPI000066D8B8	SNV	VWA5B1,synonymous_variant,p.%3D,ENST00000375083,;VWA5B1,synonymous_variant,p.%3D,ENST00000375079,;VWA5B1,synonymous_variant,p.%3D,ENST00000289815,;VWA5B1,5_prime_UTR_variant,,ENST00000289825,;VWA5B1,downstream_gene_variant,,ENST00000534075,;VWA5B1,downstream_gene_variant,,ENST00000530722,;RP4-745E8.2,intron_variant,,ENST00000444923,;VWA5B1,synonymous_variant,p.%3D,ENST00000473325,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;	883	112	63	SUCCESS
SRP9	6726	.	GRCh37	1	225965549	225965549	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	40	159	0	ENST00000304786.7:c.-94G>T		p.*32*	ENST00000304786	NM_003133.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1546.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGACTC	NONE	.	.	.	.	.	ENSP00000305230	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000304786	Transcript	.	.	ENSG00000143742	11304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRP09_HUMAN	SRP9	HGNC	Q8WVW9_HUMAN	.	UPI000011E3D2	SNV	SRP9,5_prime_UTR_variant,,ENST00000304786,;SRP9,5_prime_UTR_variant,,ENST00000366839,;SRP9,upstream_gene_variant,,ENST00000366838,;	19	159	205	SUCCESS
OBSCN	84033	.	GRCh37	1	228476532	228476532	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	35	118	1	ENST00000422127.1:c.10282G>C	p.Gly3428Arg	p.G3428R	ENST00000422127	NM_001098623.2	3428	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS59204.1	11569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGGGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	43/116	.	.	.	.	.	.	.	.	.	43/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Gly547Arg,ENST00000366707,;OBSCN,missense_variant,p.Gly547Arg,ENST00000366709,;OBSCN,missense_variant,p.Gly704Arg,ENST00000483539,;OBSCN,missense_variant,p.Gly3428Arg,ENST00000284548,;OBSCN,missense_variant,p.Gly2275Arg,ENST00000359599,;OBSCN,missense_variant,p.Gly3857Arg,ENST00000570156,;OBSCN,missense_variant,p.Gly3428Arg,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;	11643	119	166	SUCCESS
NTPCR	84284	.	GRCh37	1	233113955	233113955	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	100	120	1	ENST00000366628.5:c.551G>A	p.Cys184Tyr	p.C184Y	ENST00000366628	NM_032324.1	184	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS1597.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTGCGTGC	NONE	.	.	hmmpanther:PTHR20953,HAMAP:MF_00796	.	.	ENSP00000355587	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000366628	Transcript	.	.	ENSG00000135778	28204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.44)	.	NTPCR_HUMAN	NTPCR	HGNC	Q5TDE9_HUMAN	.	UPI00000411DD	SNV	NTPCR,missense_variant,p.Cys184Tyr,ENST00000366628,;NTPCR,downstream_gene_variant,,ENST00000366627,;NTPCR,non_coding_transcript_exon_variant,,ENST00000490807,;NTPCR,non_coding_transcript_exon_variant,,ENST00000494689,;NTPCR,non_coding_transcript_exon_variant,,ENST00000490098,;NTPCR,non_coding_transcript_exon_variant,,ENST00000496662,;NTPCR,downstream_gene_variant,,ENST00000487953,;	638	121	153	SUCCESS
RCAN3	11123	.	GRCh37	1	24859580	24859580	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs537312929	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	89	0	ENST00000374395.4:c.377T>C	p.Met126Thr	p.M126T	ENST00000374395	NM_001251984.1	126	aTg/aCg	0	.	C:0	.	C:0	.	C	M/T	protein_coding	YES	CCDS254.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATGTCCG	NONE	by1000G	.	hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF6,Pfam_domain:PF04847,Superfamily_domains:SSF54928	C:0	.	ENSP00000363516	C:0	4/5	.	.	.	.	.	.	.	.	rs537312929	4/5	PASS	ENST00000374395	Transcript	.	C:0.0002	ENSG00000117602	3042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0.001	tolerated(1)	.	RCAN3_HUMAN	RCAN3	HGNC	Q5TGC7_HUMAN,G1FLF0_HUMAN,E5L4P7_HUMAN,E5L4P0_HUMAN,E3VWE2_HUMAN,C8CJH0_HUMAN	.	UPI0000001C4A	SNV	RCAN3,missense_variant,p.Met126Thr,ENST00000374395,;RCAN3,missense_variant,p.Met68Thr,ENST00000538532,;RCAN3,intron_variant,,ENST00000412742,;RCAN3,intron_variant,,ENST00000374393,;RCAN3,intron_variant,,ENST00000436717,;RN7SL857P,upstream_gene_variant,,ENST00000580228,;RCAN3,upstream_gene_variant,,ENST00000482807,;	690	89	60	SUCCESS
NCDN	23154	.	GRCh37	1	36029507	36029507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	28	63	0	ENST00000356090.4:c.1750C>A	p.Pro584Thr	p.P584T	ENST00000356090	NM_001014839.1	584	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS392.1	1750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCCAGGT	NONE	.	.	hmmpanther:PTHR13109,Pfam_domain:PF05536	.	.	ENSP00000362340	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000373243	Transcript	.	.	ENSG00000020129	17597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.05)	.	NCDN_HUMAN	NCDN	HGNC	C9J5H8_HUMAN,B4DJ92_HUMAN	.	UPI000007147C	SNV	NCDN,missense_variant,p.Pro178Thr,ENST00000423723,;NCDN,missense_variant,p.Pro567Thr,ENST00000373253,;NCDN,missense_variant,p.Pro584Thr,ENST00000373243,;NCDN,missense_variant,p.Pro584Thr,ENST00000356090,;NCDN,downstream_gene_variant,,ENST00000437806,;NCDN,downstream_gene_variant,,ENST00000459931,;	2133	63	49	SUCCESS
ZNF691	51058	.	GRCh37	1	43315395	43315395	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1251284783	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	139	0	ENST00000397044.3:c.66G>T	p.Met22Ile	p.M22I	ENST00000397044		22	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS55595.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGCTACC	NONE	.	.	.	.	.	ENSP00000380237	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000397044	Transcript	.	.	ENSG00000164011	28028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.42)	.	ZN691_HUMAN	ZNF691	HGNC	.	.	UPI0000EE2FE8	SNV	ZNF691,missense_variant,p.Met22Ile,ENST00000372503,;ZNF691,missense_variant,p.Met22Ile,ENST00000397044,;ZNF691,5_prime_UTR_variant,,ENST00000372504,;ZNF691,5_prime_UTR_variant,,ENST00000397034,;ZNF691,5_prime_UTR_variant,,ENST00000372506,;ZNF691,intron_variant,,ENST00000372507,;ZNF691,intron_variant,,ENST00000372508,;ERMAP,downstream_gene_variant,,ENST00000372517,;ERMAP,downstream_gene_variant,,ENST00000372514,;ZNF691,upstream_gene_variant,,ENST00000372502,;ERMAP,downstream_gene_variant,,ENST00000328249,;RP11-342M1.3,upstream_gene_variant,,ENST00000414798,;RP11-342M1.3,upstream_gene_variant,,ENST00000444563,;RP11-342M1.3,upstream_gene_variant,,ENST00000425076,;RP11-342M1.3,upstream_gene_variant,,ENST00000416809,;ERMAP,downstream_gene_variant,,ENST00000487556,;	456	139	113	SUCCESS
FGGY	55277	.	GRCh37	1	59812016	59812017	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs145440779	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	87	34	162	0	ENST00000303721.7:c.418dup	p.Val140GlyfsTer25	p.V140Gfs*25	ENST00000303721	NM_018291.3	137	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS44155.1	411-412	INDELOCATOR|VARSCANI	.	TACGTCGGGGG	NONE	.	.	hmmpanther:PTHR10196:SF10,hmmpanther:PTHR10196,Pfam_domain:PF00370,Gene3D:3.30.420.40,TIGRFAM_domain:TIGR01315,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000360262	.	4/17	.	.	.	.	.	.	.	.	rs759562134,COSM1343693,COSM1343692	4/17	PASS	ENST00000371218	Transcript	.	.	ENSG00000172456	25610	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	FGGY_HUMAN	FGGY	HGNC	J3QKV9_HUMAN,C9J015_HUMAN	.	UPI0000458AF6	insertion	FGGY,frameshift_variant,p.Val140GlyfsTer25,ENST00000413489,;FGGY,frameshift_variant,p.Val140GlyfsTer25,ENST00000371218,;FGGY,frameshift_variant,p.Val140GlyfsTer25,ENST00000303721,;FGGY,intron_variant,,ENST00000371212,;FGGY,non_coding_transcript_exon_variant,,ENST00000474476,;FGGY,non_coding_transcript_exon_variant,,ENST00000462744,;FGGY,frameshift_variant,p.Val140GlyfsTer25,ENST00000430447,;FGGY,non_coding_transcript_exon_variant,,ENST00000495718,;	595-596	162	122	SUCCESS
TGFBR3	7049	.	GRCh37	1	92182200	92182200	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	6	241	0	ENST00000212355.4:c.1632G>A	p.Glu544=	p.E544=	ENST00000212355	NM_001195683.1	544	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS30770.1	1632	MUTECT|MUSE	.	CCTGACTCCAG	NONE	.	.	PROSITE_profiles:PS51034,hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5,Pfam_domain:PF00100,SMART_domains:SM00241	.	.	ENSP00000212355	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000212355	Transcript	.	.	ENSG00000069702	11774	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TGBR3_HUMAN	TGFBR3	HGNC	E9PAW7_HUMAN	.	UPI000049D997	SNV	TGFBR3,synonymous_variant,p.%3D,ENST00000212355,;TGFBR3,synonymous_variant,p.%3D,ENST00000465892,;TGFBR3,synonymous_variant,p.%3D,ENST00000525962,;TGFBR3,synonymous_variant,p.%3D,ENST00000370399,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;TGFBR3,3_prime_UTR_variant,,ENST00000533089,;TGFBR3,downstream_gene_variant,,ENST00000529608,;TGFBR3,upstream_gene_variant,,ENST00000470600,;	2098	241	198	SUCCESS
C20orf26	0	.	GRCh37	20	20144770	20144770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	61	0	ENST00000245957.5:c.1103T>C	p.Leu368Pro	p.L368P	ENST00000245957	NM_015585.3	368	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS33447.1	1103	RADIA|MUTECT|MUSE	.	ATCGCTCGTAC	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.033)	.	tolerated(0.22)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Leu368Pro,ENST00000451767,;C20orf26,missense_variant,p.Leu368Pro,ENST00000377306,;C20orf26,missense_variant,p.Leu322Pro,ENST00000340348,;C20orf26,missense_variant,p.Leu368Pro,ENST00000245957,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,intron_variant,,ENST00000442372,;	1179	61	59	SUCCESS
SYS1	90196	.	GRCh37	20	43995750	43995750	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	98	0	ENST00000243918.5:c.466G>A	p.Val156Ile	p.V156I	ENST00000243918	NM_033542.3	156	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS13351.1	466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGTCTAG	NONE	.	.	hmmpanther:PTHR12952,hmmpanther:PTHR12952:SF2,PIRSF_domain:PIRSF031402	.	.	ENSP00000243918	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243918	Transcript	.	.	ENSG00000204070	16162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	deleterious(0.04)	.	SYS1_HUMAN	SYS1	HGNC	Q5QPU8_HUMAN,E7ETM6_HUMAN	.	UPI00000721D5	SNV	SYS1,missense_variant,p.Val156Ile,ENST00000243918,;SYS1,missense_variant,p.Val156Ile,ENST00000372727,;SYS1,missense_variant,p.Val135Ile,ENST00000414310,;SYS1,intron_variant,,ENST00000426004,;SYS1,downstream_gene_variant,,ENST00000453003,;SYS1,non_coding_transcript_exon_variant,,ENST00000479779,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;SYS1,3_prime_UTR_variant,,ENST00000457307,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1,downstream_gene_variant,,ENST00000461890,;	757	98	71	SUCCESS
KCNB1	3745	.	GRCh37	20	47990403	47990403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	101	0	ENST00000371741.4:c.1694T>C	p.Ile565Thr	p.I565T	ENST00000371741	NM_004975.2	565	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS13418.1	1694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGATACTC	NONE	.	.	Pfam_domain:PF03521	.	.	ENSP00000360806	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371741	Transcript	1	.	ENSG00000158445	6231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated_low_confidence(0.15)	.	KCNB1_HUMAN	KCNB1	HGNC	.	.	UPI000012DC80	SNV	KCNB1,missense_variant,p.Ile565Thr,ENST00000371741,;	1861	101	86	SUCCESS
BACH1	571	.	GRCh37	21	30701998	30701998	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	164	0	ENST00000286800.3:c.1760C>A	p.Ser587Ter	p.S587*	ENST00000286800	NM_001186.2	587	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS13585.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCAGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57959,SMART_domains:SM00338,Gene3D:1.20.5.370,Pfam_domain:PF03131,PROSITE_profiles:PS50217	.	.	ENSP00000382805	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000399921	Transcript	.	.	ENSG00000156273	935	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BACH1_HUMAN	BACH1	HGNC	Q6ICU0_HUMAN,F8VZL7_HUMAN,C9JMP6_HUMAN,C9IYR0_HUMAN,C9IYH8_HUMAN	.	UPI000012673F	SNV	BACH1,stop_gained,p.Ser587Ter,ENST00000286800,;BACH1,stop_gained,p.Ser104Ter,ENST00000468059,;BACH1,stop_gained,p.Ser587Ter,ENST00000399921,;BACH1,stop_gained,p.Ser153Ter,ENST00000422809,;BACH1,downstream_gene_variant,,ENST00000451655,;BACH1,downstream_gene_variant,,ENST00000447177,;BACH1,downstream_gene_variant,,ENST00000435072,;	2003	164	71	SUCCESS
IFNAR2	3455	.	GRCh37	21	34635391	34635391	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	39	130	0	ENST00000342136.4:c.1134C>T	p.Pro378=	p.P378=	ENST00000342136		378	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13621.1	1134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCACGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF23	.	.	ENSP00000343957	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000342136	Transcript	.	.	ENSG00000159110	5433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INAR2_HUMAN	IFNAR2	HGNC	C9JCU0_HUMAN	.	UPI000012D69B	SNV	IFNAR2,synonymous_variant,p.%3D,ENST00000342136,;IFNAR2,synonymous_variant,p.%3D,ENST00000382241,;IFNAR2,3_prime_UTR_variant,,ENST00000342101,;IFNAR2,3_prime_UTR_variant,,ENST00000404220,;AP000295.9,intron_variant,,ENST00000433395,;IFNAR2,downstream_gene_variant,,ENST00000413881,;IFNAR2,downstream_gene_variant,,ENST00000443073,;IFNAR2,downstream_gene_variant,,ENST00000382264,;IL10RB,upstream_gene_variant,,ENST00000290200,;IL10RB-AS1,downstream_gene_variant,,ENST00000411998,;AP000295.9,intron_variant,,ENST00000432231,;IFNAR2,downstream_gene_variant,,ENST00000382238,;IL10RB,upstream_gene_variant,,ENST00000493295,;IFNAR2,downstream_gene_variant,,ENST00000417007,;IL10RB,upstream_gene_variant,,ENST00000422891,;	1460	130	61	SUCCESS
XBP1	7494	.	GRCh37	22	29196533	29196533	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	44	0	ENST00000216037.6:c.-21C>T		p.*7*	ENST00000216037	NM_005080.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13847.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCGCACCG	NONE	.	.	.	.	.	ENSP00000216037	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000216037	Transcript	.	.	ENSG00000100219	12801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XBP1_HUMAN	XBP1	HGNC	.	.	UPI000006FC05	SNV	XBP1,5_prime_UTR_variant,,ENST00000403532,;XBP1,5_prime_UTR_variant,,ENST00000216037,;XBP1,upstream_gene_variant,,ENST00000405219,;XBP1,upstream_gene_variant,,ENST00000344347,;CTA-292E10.6,upstream_gene_variant,,ENST00000418292,;CTA-292E10.6,upstream_gene_variant,,ENST00000458080,;CTA-292E10.6,upstream_gene_variant,,ENST00000585003,;CTA-292E10.6,upstream_gene_variant,,ENST00000451486,;XBP1,non_coding_transcript_exon_variant,,ENST00000482720,;XBP1,upstream_gene_variant,,ENST00000484256,;	53	44	16	SUCCESS
SFI1	9814	.	GRCh37	22	32009644	32009644	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	123	0	ENST00000400288.2:c.2799A>G	p.Lys933=	p.K933=	ENST00000400288	NM_001007467.2	933	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS43004.1	2799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAAGTGCT	NONE	.	.	hmmpanther:PTHR22028:SF2,hmmpanther:PTHR22028	.	.	ENSP00000383145	.	27/33	.	.	.	.	.	.	.	.	.	27/33	PASS	ENST00000400288	Transcript	.	.	ENSG00000198089	29064	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFI1_HUMAN	SFI1	HGNC	.	.	UPI00004703B1	SNV	SFI1,synonymous_variant,p.%3D,ENST00000400289,;SFI1,synonymous_variant,p.%3D,ENST00000414585,;SFI1,synonymous_variant,p.%3D,ENST00000443011,;SFI1,synonymous_variant,p.%3D,ENST00000417682,;SFI1,synonymous_variant,p.%3D,ENST00000400288,;SFI1,synonymous_variant,p.%3D,ENST00000432498,;SFI1,synonymous_variant,p.%3D,ENST00000540643,;SFI1,synonymous_variant,p.%3D,ENST00000443326,;PISD,downstream_gene_variant,,ENST00000397500,;PISD,downstream_gene_variant,,ENST00000266095,;PISD,downstream_gene_variant,,ENST00000382151,;SFI1,upstream_gene_variant,,ENST00000474741,;SFI1,downstream_gene_variant,,ENST00000463436,;SFI1,downstream_gene_variant,,ENST00000466991,;SFI1,3_prime_UTR_variant,,ENST00000452250,;SFI1,non_coding_transcript_exon_variant,,ENST00000495107,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,downstream_gene_variant,,ENST00000524296,;PISD,downstream_gene_variant,,ENST00000473770,;SFI1,upstream_gene_variant,,ENST00000357852,;PISD,downstream_gene_variant,,ENST00000460723,;SFI1,downstream_gene_variant,,ENST00000491973,;SFI1,upstream_gene_variant,,ENST00000476577,;SFI1,upstream_gene_variant,,ENST00000464333,;PISD,downstream_gene_variant,,ENST00000437808,;	2904	123	99	SUCCESS
PQLC3	0	.	GRCh37	2	11317882	11317882	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	48	0	ENST00000295083.3:c.537C>T	p.Ile179=	p.I179=	ENST00000295083	NM_152391.3	179	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1679.1	537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATCATGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12226,hmmpanther:PTHR12226:SF3,PIRSF_domain:PIRSF023381	.	.	ENSP00000295083	.	7/7	.	.	.	.	.	.	.	.	COSM3668801	7/7	PASS	ENST00000295083	Transcript	.	.	ENSG00000162976	28503	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PQLC3_HUMAN	PQLC3	HGNC	.	.	UPI0000070DA0	SNV	PQLC3,synonymous_variant,p.%3D,ENST00000441908,;PQLC3,synonymous_variant,p.%3D,ENST00000295083,;PQLC3,3_prime_UTR_variant,,ENST00000402361,;PQLC3,3_prime_UTR_variant,,ENST00000428481,;ROCK2,downstream_gene_variant,,ENST00000315872,;PQLC3,non_coding_transcript_exon_variant,,ENST00000487471,;PQLC3,3_prime_UTR_variant,,ENST00000445921,;	712	48	50	SUCCESS
INSIG2	51141	.	GRCh37	2	118854021	118854021	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	22	0	ENST00000245787.4:c.-112C>A		p.*38*	ENST00000245787	NM_016133.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2122.1	.	RADIA|MUSE	.	TAGGACAAGAT	NONE	.	.	.	.	.	ENSP00000245787	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000245787	Transcript	.	.	ENSG00000125629	20452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INSI2_HUMAN	INSIG2	HGNC	B4DQ23_HUMAN	.	UPI0000073C50	SNV	INSIG2,5_prime_UTR_variant,,ENST00000245787,;INSIG2,intron_variant,,ENST00000467223,;INSIG2,intron_variant,,ENST00000471186,;INSIG2,intron_variant,,ENST00000485520,;INSIG2,intron_variant,,ENST00000411929,;	95	22	24	SUCCESS
COBLL1	22837	.	GRCh37	2	165552233	165552233	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145390469	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	45	166	0	ENST00000392717.2:c.1897A>G	p.Met633Val	p.M633V	ENST00000392717		633	Atg/Gtg	0	C:0.0007	C:0.0008	.	C:0	.	C	M/V	protein_coding	YES	CCDS2223.2	1783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATATCAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	C:0	C:0	ENSP00000341360	C:0	12/14	.	.	.	.	.	.	.	.	rs145390469	12/14	PASS	ENST00000342193	Transcript	.	C:0.0002	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0	tolerated(0.36)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Met557Val,ENST00000375458,;COBLL1,missense_variant,p.Met595Val,ENST00000409184,;COBLL1,missense_variant,p.Met595Val,ENST00000342193,;COBLL1,missense_variant,p.Met633Val,ENST00000392717,;COBLL1,missense_variant,p.Met662Val,ENST00000194871,;COBLL1,upstream_gene_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,downstream_gene_variant,,ENST00000491126,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;COBLL1,downstream_gene_variant,,ENST00000460238,;COBLL1,downstream_gene_variant,,ENST00000456171,;	1999	166	160	SUCCESS
DNAH7	56171	.	GRCh37	2	196681579	196681579	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	345	124	459	1	ENST00000312428.6:c.9534G>T	p.Leu3178Phe	p.L3178F	ENST00000312428	NM_018897.2	3178	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS42794.1	9534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCCAAGGC	BUFFER|p.A3179S|c.9535G>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000311273	.	51/65	.	.	.	.	.	.	.	.	.	51/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Leu3178Phe,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000493844,;	9635	460	470	SUCCESS
APOB	338	.	GRCh37	2	21266932	21266932	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1800480	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	26	0	ENST00000233242.1:c.-115C>T		p.*39*	ENST00000233242	NM_000384.2			0	.	C:0.0439	.	C:0.0115	.	A	.	protein_coding	YES	CCDS1703.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCAGGTCCCG	NONE	byFrequency|byCluster|by1000G	.	.	C:0.001	.	ENSP00000233242	C:0.0089	1/29	.	.	.	.	.	.	.	.	rs1800480	1/29	PASS	ENST00000233242	Transcript	.	C:0.0172	ENSG00000084674	603	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0.0102	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,5_prime_UTR_variant,,ENST00000233242,;APOB,upstream_gene_variant,,ENST00000399256,;	14	26	29	SUCCESS
COL4A3	1285	.	GRCh37	2	228141161	228141161	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	60	90	0	ENST00000396578.3:c.1988C>T	p.Pro663Leu	p.P663L	ENST00000396578	NM_000091.4	663	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42829.1	1988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCCCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF417,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000379823	.	27/52	.	.	.	.	.	.	.	.	.	27/52	PASS	ENST00000396578	Transcript	.	.	ENSG00000169031	2204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO4A3_HUMAN	COL4A3	HGNC	Q548X1_HUMAN,A9QVI3_HUMAN	.	UPI000013E9F3	SNV	COL4A3,missense_variant,p.Pro663Leu,ENST00000396578,;AC097662.2,intron_variant,,ENST00000433324,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000439598,;	2150	90	110	SUCCESS
SH3BP4	23677	.	GRCh37	2	235949591	235949591	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778127101	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	62	106	0	ENST00000344528.4:c.178G>T	p.Val60Leu	p.V60L	ENST00000344528		60	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS2513.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGTGATT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000386862	.	4/6	.	.	.	.	.	.	.	.	rs778127101	4/6	PASS	ENST00000409212	Transcript	.	.	ENSG00000130147	10826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	SH3B4_HUMAN	SH3BP4	HGNC	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN	.	UPI000006DA47	SNV	SH3BP4,missense_variant,p.Val60Leu,ENST00000409212,;SH3BP4,missense_variant,p.Val60Leu,ENST00000344528,;SH3BP4,missense_variant,p.Val60Leu,ENST00000392011,;SH3BP4,missense_variant,p.Val60Leu,ENST00000416021,;SH3BP4,missense_variant,p.Val60Leu,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;	685	106	109	SUCCESS
EMILIN1	11117	.	GRCh37	2	27305559	27305559	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760821968	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	22	105	0	ENST00000380320.4:c.1120G>A	p.Gly374Ser	p.G374S	ENST00000380320	NM_007046.3	374	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS1733.1	1120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGGCTCA	NONE	byFrequency	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1	.	.	ENSP00000369677	.	4/8	.	.	.	.	.	.	.	.	rs760821968	4/8	PASS	ENST00000380320	Transcript	.	.	ENSG00000138080	19880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	.	.	EMIL1_HUMAN	EMILIN1	HGNC	.	.	UPI000013D0F3	SNV	EMILIN1,missense_variant,p.Gly374Ser,ENST00000380320,;KHK,upstream_gene_variant,,ENST00000429697,;KHK,upstream_gene_variant,,ENST00000260599,;KHK,upstream_gene_variant,,ENST00000260598,;EMILIN1,upstream_gene_variant,,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000490823,;	1619	105	96	SUCCESS
ALK	238	.	GRCh37	2	29498058	29498058	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1178904580	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	87	141	1	ENST00000389048.3:c.1948C>A	p.Pro650Thr	p.P650T	ENST00000389048	NM_004304.4	650	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS33172.1	1948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGTGCTG	NONE	.	.	.	.	.	ENSP00000373700	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	tolerated(0.06)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Pro650Thr,ENST00000389048,;ALK,intron_variant,,ENST00000431873,;	2855	142	150	SUCCESS
PUS10	150962	.	GRCh37	2	61244745	61244745	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	53	0	ENST00000316752.6:c.-16+398C>A		p.*6*	ENST00000316752	NM_144709.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1866.1	.	MUTECT|MUSE	.	CAGCTGGCAAA	NONE	.	112	.	.	.	ENSP00000295030	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,5_prime_UTR_variant,,ENST00000444100,;PEX13,5_prime_UTR_variant,,ENST00000401576,;PUS10,intron_variant,,ENST00000316752,;PUS10,upstream_gene_variant,,ENST00000407787,;PUS10,upstream_gene_variant,,ENST00000421319,;PEX13,upstream_gene_variant,,ENST00000414712,;PEX13,upstream_gene_variant,,ENST00000295030,;PUS10,upstream_gene_variant,,ENST00000398658,;PEX13,upstream_gene_variant,,ENST00000472678,;PUS10,intron_variant,,ENST00000602599,;PUS10,upstream_gene_variant,,ENST00000430495,;	.	53	42	SUCCESS
HMCES	56941	.	GRCh37	3	129017267	129017267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	96	198	1	ENST00000383463.4:c.524C>T	p.Thr175Ile	p.T175I	ENST00000383463	NM_020187.2	175	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS33852.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACAATGG	NONE	.	.	hmmpanther:PTHR13604,hmmpanther:PTHR13604:SF0,Pfam_domain:PF02586,Gene3D:2icuA00,Superfamily_domains:SSF143081	.	.	ENSP00000372955	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000383463	Transcript	.	.	ENSG00000183624	24446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HMCES_HUMAN	HMCES	HGNC	D6RAZ3_HUMAN	.	UPI000006FF4D	SNV	HMCES,missense_variant,p.Thr175Ile,ENST00000509551,;HMCES,missense_variant,p.Thr175Ile,ENST00000502878,;HMCES,missense_variant,p.Thr133Ile,ENST00000417226,;HMCES,missense_variant,p.Thr85Ile,ENST00000510314,;HMCES,missense_variant,p.Thr127Ile,ENST00000509042,;HMCES,missense_variant,p.Thr85Ile,ENST00000511665,;HMCES,missense_variant,p.Thr175Ile,ENST00000389735,;HMCES,missense_variant,p.Thr175Ile,ENST00000383463,;	613	199	177	SUCCESS
EFCAB12	90288	.	GRCh37	3	129123132	129123132	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	103	1	ENST00000326085.3:c.1364T>G	p.Leu455Arg	p.L455R	ENST00000326085		455	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS54638.1	1364	RADIA|SOMATICSNIPER|VARSCANS	.	ACCGGAGCAGA	NONE	.	.	hmmpanther:PTHR23050:SF152,hmmpanther:PTHR23050	.	.	ENSP00000420854	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000505956	Transcript	.	.	ENSG00000172771	28061	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.199)	.	tolerated(0.36)	.	EFC12_HUMAN	EFCAB12	HGNC	.	.	UPI00001C1DE1	SNV	EFCAB12,missense_variant,p.Leu455Arg,ENST00000505956,;EFCAB12,missense_variant,p.Leu455Arg,ENST00000326085,;RPL32P3,upstream_gene_variant,,ENST00000514355,;RPL32P3,upstream_gene_variant,,ENST00000510078,;RPL32P3,upstream_gene_variant,,ENST00000499631,;RPL32P3,upstream_gene_variant,,ENST00000506593,;RPL32P3,upstream_gene_variant,,ENST00000515866,;EFCAB12,non_coding_transcript_exon_variant,,ENST00000503498,;EFCAB12,non_coding_transcript_exon_variant,,ENST00000514900,;RPL32P3,upstream_gene_variant,,ENST00000394491,;	1527	104	83	SUCCESS
DNAJC13	23317	.	GRCh37	3	132219701	132219701	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	47	116	0	ENST00000260818.6:c.4480A>G	p.Ile1494Val	p.I1494V	ENST00000260818	NM_015268.3	1494	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33857.1	4480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGATCACG	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF25,Superfamily_domains:SSF48371	.	.	ENSP00000260818	.	39/56	.	.	.	.	.	.	.	.	.	39/56	PASS	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0.02)	.	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,missense_variant,p.Ile1494Val,ENST00000260818,;	4728	116	87	SUCCESS
EPHB1	2047	.	GRCh37	3	134670291	134670291	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	6	183	0	ENST00000398015.3:c.202C>T	p.Gln68Ter	p.Q68*	ENST00000398015	NM_004441.4	68	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS46921.1	202	MUTECT|MUSE	.	CCAACCAGAAC	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Pfam_domain:PF01404,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000381097	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,stop_gained,p.Gln46Ter,ENST00000474732,;EPHB1,stop_gained,p.Gln46Ter,ENST00000460895,;EPHB1,stop_gained,p.Gln46Ter,ENST00000473867,;EPHB1,stop_gained,p.Gln68Ter,ENST00000398015,;EPHB1,downstream_gene_variant,,ENST00000497173,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488154,;EPHB1,stop_gained,p.Gln68Ter,ENST00000482618,;	572	183	163	SUCCESS
HRG	3273	.	GRCh37	3	186395586	186395586	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759656714	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	70	205	0	ENST00000232003.4:c.1492C>A	p.Gln498Lys	p.Q498K	ENST00000232003	NM_000412.2	498	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3280.1	1492	RADIA|MUTECT|MUSE	.	TTCCTCAATCA	NONE	.	.	hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF3	.	.	ENSP00000232003	.	7/7	.	.	.	.	.	.	.	.	rs759656714	7/7	PASS	ENST00000232003	Transcript	.	.	ENSG00000113905	5181	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.751)	.	deleterious(0)	.	HRG_HUMAN	HRG	HGNC	.	.	UPI000012CBC3	SNV	HRG,missense_variant,p.Gln498Lys,ENST00000232003,;HRG,non_coding_transcript_exon_variant,,ENST00000495413,;	1572	205	261	SUCCESS
GOLGA4	2803	.	GRCh37	3	37396591	37396591	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	27	80	0	ENST00000361924.2:c.6577-1G>A		p.X2193_splice	ENST00000361924	NM_002078.4	2193		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54564.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGACCAT	NONE	.	.	.	.	.	ENSP00000349305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	HIGH	21/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,splice_acceptor_variant,,ENST00000356847,;GOLGA4,splice_acceptor_variant,,ENST00000361924,;GOLGA4,splice_acceptor_variant,,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;	.	80	117	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913409	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	89	199	0	ENST00000349496.5:c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000349496	NM_001904.3	45	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45Y|c.134C>A|27,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45F|c.134C>T|518,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.968)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	199	162	SUCCESS
SACM1L	22908	.	GRCh37	3	45751119	45751119	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	115	0	ENST00000389061.5:c.463G>C	p.Glu155Gln	p.E155Q	ENST00000389061	NM_014016.3	155	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS33745.1	463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGAAATG	NONE	.	.	Pfam_domain:PF02383,hmmpanther:PTHR11200,PROSITE_profiles:PS50275	.	.	ENSP00000373713	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000389061	Transcript	.	.	ENSG00000211456	17059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(1)	.	SAC1_HUMAN	SACM1L	HGNC	E9PGZ4_HUMAN,C9JV50_HUMAN	.	UPI000006EAA5	SNV	SACM1L,missense_variant,p.Glu94Gln,ENST00000438671,;SACM1L,missense_variant,p.Glu155Gln,ENST00000389061,;SACM1L,missense_variant,p.Glu94Gln,ENST00000541314,;SACM1L,missense_variant,p.Glu52Gln,ENST00000418611,;SACM1L,non_coding_transcript_exon_variant,,ENST00000464524,;SACM1L,non_coding_transcript_exon_variant,,ENST00000478586,;SACM1L,missense_variant,p.Glu52Gln,ENST00000455997,;SACM1L,missense_variant,p.Glu155Gln,ENST00000445499,;SACM1L,3_prime_UTR_variant,,ENST00000441228,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463237,;SACM1L,upstream_gene_variant,,ENST00000463659,;SACM1L,downstream_gene_variant,,ENST00000463347,;	667	115	118	SUCCESS
PDZRN3	23024	.	GRCh37	3	73433952	73433952	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	63	0	ENST00000263666.4:c.1765A>C	p.Asn589His	p.N589H	ENST00000263666	NM_015009.1	589	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS33789.1	1765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATTGTTCT	NONE	.	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545	.	.	ENSP00000263666	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.13)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Asn246His,ENST00000466780,;PDZRN3,missense_variant,p.Asn589His,ENST00000263666,;PDZRN3,missense_variant,p.Asn186His,ENST00000494559,;PDZRN3,missense_variant,p.Asn246His,ENST00000462146,;PDZRN3,missense_variant,p.Asn306His,ENST00000479530,;PDZRN3,missense_variant,p.Asn311His,ENST00000535920,;PDZRN3,missense_variant,p.Asn287His,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	1880	63	75	SUCCESS
FAM160A1	0	.	GRCh37	4	152570857	152570857	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567628337	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	57	120	0	ENST00000435205.1:c.1664C>T	p.Pro555Leu	p.P555L	ENST00000435205	NM_001109977.1	555	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47146.1	1664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGCAAC	NONE	byCluster	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705	.	.	ENSP00000413196	.	11/14	.	.	.	.	.	.	.	.	rs567628337	11/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.08)	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Pro555Leu,ENST00000435205,;FAM160A1,missense_variant,p.Pro555Leu,ENST00000505231,;	2239	120	141	SUCCESS
CBR4	84869	.	GRCh37	4	169931377	169931377	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	25	0	ENST00000306193.3:c.-137C>T		p.*46*	ENST00000306193	NM_032783.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3812.1	.	MUTECT|MUSE	.	ACGCCGCTCGA	NONE	.	.	.	.	.	ENSP00000303525	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000306193	Transcript	.	.	ENSG00000145439	25891	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBR4_HUMAN	CBR4	HGNC	.	.	UPI000006EEEF	SNV	CBR4,5_prime_UTR_variant,,ENST00000306193,;CBR4,5_prime_UTR_variant,,ENST00000504480,;CBR4,upstream_gene_variant,,ENST00000504561,;RP11-483A20.3,upstream_gene_variant,,ENST00000506933,;RNY4P17,downstream_gene_variant,,ENST00000364948,;CBR4,upstream_gene_variant,,ENST00000509108,;CBR4,5_prime_UTR_variant,,ENST00000507752,;CBR4,5_prime_UTR_variant,,ENST00000506808,;CBR4,5_prime_UTR_variant,,ENST00000510042,;	33	25	17	SUCCESS
GABRG1	2565	.	GRCh37	4	46067487	46067487	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	76	0	ENST00000295452.4:c.436C>A	p.Pro146Thr	p.P146T	ENST00000295452	NM_173536.3	146	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3470.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGAATCC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000295452	.	4/9	.	.	.	.	.	.	.	.	COSM734366	4/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Pro146Thr,ENST00000295452,;	604	76	84	SUCCESS
STK32B	55351	.	GRCh37	4	5500781	5500781	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	86	297	0	ENST00000282908.5:c.1216C>T	p.His406Tyr	p.H406Y	ENST00000282908	NM_018401.1	406	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS3380.1	1216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCACACC	NONE	.	.	.	.	.	ENSP00000282908	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000282908	Transcript	.	.	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	tolerated_low_confidence(0.08)	.	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.His359Tyr,ENST00000510398,;STK32B,missense_variant,p.His329Tyr,ENST00000512636,;STK32B,missense_variant,p.His406Tyr,ENST00000282908,;STK32B,non_coding_transcript_exon_variant,,ENST00000508728,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	1638	297	198	SUCCESS
PDE6B	5158	.	GRCh37	4	661717	661717	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1286551313	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	81	0	ENST00000496514.1:c.2425G>A	p.Ala809Thr	p.A809T	ENST00000496514		809	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33932.1	2425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGCGCTG	NONE	.	.	Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000420295	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.33)	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.Ala530Thr,ENST00000429163,;PDE6B,missense_variant,p.Ala90Thr,ENST00000461490,;PDE6B,missense_variant,p.Ala809Thr,ENST00000496514,;PDE6B,missense_variant,p.Ala809Thr,ENST00000255622,;PDE6B,intron_variant,,ENST00000471824,;ATP5I,downstream_gene_variant,,ENST00000304312,;ATP5I,downstream_gene_variant,,ENST00000506525,;ATP5I,downstream_gene_variant,,ENST00000505852,;PDE6B,downstream_gene_variant,,ENST00000460119,;ATP5I,downstream_gene_variant,,ENST00000515202,;ATP5I,downstream_gene_variant,,ENST00000515116,;	2446	81	73	SUCCESS
CXCL13	10563	.	GRCh37	4	78528986	78528986	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	102	0	ENST00000286758.4:c.194T>C	p.Ile65Thr	p.I65T	ENST00000286758	NM_006419.2	65	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3582.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATCATGT	NONE	.	.	Prints_domain:PR00436,Prints_domain:PR00437,Superfamily_domains:SSF54117,SMART_domains:SM00199,Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00471,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF27	.	.	ENSP00000286758	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000286758	Transcript	.	.	ENSG00000156234	10639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	CXL13_HUMAN	CXCL13	HGNC	Q53X90_HUMAN	.	UPI0000000CC9	SNV	CXCL13,missense_variant,p.Ile65Thr,ENST00000286758,;CXCL13,non_coding_transcript_exon_variant,,ENST00000506590,;	272	102	83	SUCCESS
DOCK2	1794	.	GRCh37	5	169412919	169412919	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	155	0	ENST00000256935.8:c.2986C>T	p.Gln996Ter	p.Q996*	ENST00000256935	NM_004946.2	996	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS4371.1	2986	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCAAAAC	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	29/52	.	.	.	.	.	.	.	.	.	29/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,stop_gained,p.Gln57Ter,ENST00000540750,;DOCK2,stop_gained,p.Gln996Ter,ENST00000256935,;DOCK2,stop_gained,p.Gln488Ter,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000522994,;DOCK2,stop_gained,p.Gln996Ter,ENST00000524185,;	3066	155	96	SUCCESS
CD180	4064	.	GRCh37	5	66492476	66492476	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs745913565	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	143	0	ENST00000256447.4:c.-7G>A		p.*3*	ENST00000256447	NM_005582.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3992.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCTAGGA	NONE	byFrequency	.	.	.	.	ENSP00000256447	.	1/3	.	.	.	.	.	.	.	.	rs745913565	1/3	PASS	ENST00000256447	Transcript	.	.	ENSG00000134061	6726	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD180_HUMAN	CD180	HGNC	.	.	UPI000013CF0C	SNV	CD180,5_prime_UTR_variant,,ENST00000256447,;	152	143	91	SUCCESS
HEXB	3074	.	GRCh37	5	73981154	73981154	+	synonymous_variant	Silent	SNP	G	G	A	rs1453045657	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	99	0	ENST00000261416.7:c.69G>A	p.Leu23=	p.L23=	ENST00000261416	NM_000521.3	23	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4022.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22600,hmmpanther:PTHR22600:SF11,PIRSF_domain:PIRSF001093	.	.	ENSP00000261416	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000261416	Transcript	1	.	ENSG00000049860	4879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXB_HUMAN	HEXB	HGNC	Q5URX0_HUMAN,D6REQ8_HUMAN	.	UPI000013D183	SNV	HEXB,synonymous_variant,p.%3D,ENST00000261416,;HEXB,intron_variant,,ENST00000511181,;HEXB,non_coding_transcript_exon_variant,,ENST00000515528,;HEXB,non_coding_transcript_exon_variant,,ENST00000513079,;	186	99	87	SUCCESS
GFM2	84340	.	GRCh37	5	74021934	74021934	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	55	0	ENST00000296805.3:c.1744T>G	p.Leu582Val	p.L582V	ENST00000296805	NM_032380.4	582	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4023.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTAAAGTTC	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Pfam_domain:PF03764,Gene3D:3.30.230.10,SMART_domains:SM00889,Superfamily_domains:SSF54211	.	.	ENSP00000296805	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000296805	Transcript	.	.	ENSG00000164347	29682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.45)	.	RRF2M_HUMAN	GFM2	HGNC	D6RF75_HUMAN	.	UPI0000129CA7	SNV	GFM2,missense_variant,p.Leu582Val,ENST00000296805,;GFM2,missense_variant,p.Leu535Val,ENST00000345239,;GFM2,missense_variant,p.Leu582Val,ENST00000509430,;HEXB,downstream_gene_variant,,ENST00000511181,;HEXB,downstream_gene_variant,,ENST00000509579,;HEXB,downstream_gene_variant,,ENST00000261416,;HEXB,downstream_gene_variant,,ENST00000513336,;RNU6-658P,upstream_gene_variant,,ENST00000384606,;GFM2,non_coding_transcript_exon_variant,,ENST00000515125,;GFM2,non_coding_transcript_exon_variant,,ENST00000514734,;HEXB,downstream_gene_variant,,ENST00000513539,;HEXB,downstream_gene_variant,,ENST00000505859,;HEXB,downstream_gene_variant,,ENST00000503312,;GFM2,downstream_gene_variant,,ENST00000506263,;HEXB,downstream_gene_variant,,ENST00000513867,;	2202	55	44	SUCCESS
ATG5	9474	.	GRCh37	6	106764056	106764058	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	CTC	CTC	.	.	.	.	.	.	.	.	.	.	.	.	.	11	26	116	0	ENST00000343245.3:c.26_28del	p.Arg9_Asp10delinsHis	p.R9_D10delinsH	ENST00000343245	NM_001286106.1	9	cGAGat/cat	0	.	.	.	.	.	-	RD/H	protein_coding	YES	CCDS5055.1	26-28	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACATCTCGAAGC	BUFFER|p.R9*|c.25C>T|3	.	.	hmmpanther:PTHR13040:SF2,hmmpanther:PTHR13040	.	.	ENSP00000358072	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000369076	Transcript	.	.	ENSG00000057663	589	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATG5_HUMAN	ATG5	HGNC	A9UGY9_HUMAN	.	UPI0000125C62	deletion	ATG5,inframe_deletion,p.Arg9_Asp10delinsHis,ENST00000343245,;ATG5,inframe_deletion,p.Arg9_Asp10delinsHis,ENST00000360666,;ATG5,inframe_deletion,p.Arg9_Asp10delinsHis,ENST00000369076,;ATG5,5_prime_UTR_variant,,ENST00000369070,;	350-352	116	37	SUCCESS
SYNE1	23345	.	GRCh37	6	152831461	152831461	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	54	162	0	ENST00000367255.5:c.448A>C	p.Ser150Arg	p.S150R	ENST00000367255	NM_182961.3	150	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS5236.2	448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGGACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	8/146	.	.	.	.	.	.	.	.	.	8/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Ser150Arg,ENST00000466159,;SYNE1,missense_variant,p.Ser157Arg,ENST00000367248,;SYNE1,missense_variant,p.Ser157Arg,ENST00000423061,;SYNE1,missense_variant,p.Ser157Arg,ENST00000448038,;SYNE1,missense_variant,p.Ser150Arg,ENST00000367255,;SYNE1,missense_variant,p.Ser150Arg,ENST00000413186,;SYNE1,missense_variant,p.Ser150Arg,ENST00000537750,;SYNE1,missense_variant,p.Ser150Arg,ENST00000341594,;SYNE1,missense_variant,p.Ser150Arg,ENST00000367253,;SYNE1,missense_variant,p.Ser150Arg,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	1050	162	81	SUCCESS
HLA-J	3137	.	GRCh37	6	29976079	29976079	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	96	0	ENST00000462773.1:n.467G>A		p.*156*	ENST00000462773				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGGAGGA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376797	Transcript	.	.	ENSG00000204623	13924	.	.	MODIFIER	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNRD1-AS1	HGNC	.	.	.	SNV	ZNRD1-AS1,intron_variant,,ENST00000420251,;ZNRD1-AS1,intron_variant,,ENST00000448093,;ZNRD1-AS1,intron_variant,,ENST00000425604,;ZNRD1-AS1,intron_variant,,ENST00000376797,;ZNRD1-AS1,downstream_gene_variant,,ENST00000444051,;HLA-J,non_coding_transcript_exon_variant,,ENST00000495278,;HLA-J,non_coding_transcript_exon_variant,,ENST00000462773,;HLA-J,non_coding_transcript_exon_variant,,ENST00000469281,;HLA-J,non_coding_transcript_exon_variant,,ENST00000494367,;HCG4P3,upstream_gene_variant,,ENST00000458060,;	.	96	90	SUCCESS
SKIV2L	6499	.	GRCh37	6	31927872	31927872	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	87	0	ENST00000375394.2:c.212T>A	p.Leu71Gln	p.L71Q	ENST00000375394	NM_006929.4	71	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4731.1	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTGCATG	NONE	.	.	hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,PIRSF_domain:PIRSF005198	.	.	ENSP00000364543	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000375394	Transcript	.	.	ENSG00000204351	10898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.1)	.	SKIV2_HUMAN	SKIV2L	HGNC	Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN	.	UPI000045740B	SNV	SKIV2L,missense_variant,p.Leu71Gln,ENST00000375394,;SKIV2L,intron_variant,,ENST00000544581,;NELFE,upstream_gene_variant,,ENST00000436289,;NELFE,upstream_gene_variant,,ENST00000375425,;NELFE,upstream_gene_variant,,ENST00000444811,;NELFE,upstream_gene_variant,,ENST00000375429,;NELFE,upstream_gene_variant,,ENST00000426722,;NELFE,upstream_gene_variant,,ENST00000441998,;NELFE,upstream_gene_variant,,ENST00000454913,;MIR1236,upstream_gene_variant,,ENST00000408340,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000488648,;SKIV2L,missense_variant,p.Leu71Gln,ENST00000461073,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,intron_variant,,ENST00000474839,;SKIV2L,downstream_gene_variant,,ENST00000492900,;NELFE,upstream_gene_variant,,ENST00000492539,;NELFE,upstream_gene_variant,,ENST00000488426,;NELFE,upstream_gene_variant,,ENST00000494956,;NELFE,upstream_gene_variant,,ENST00000492185,;NELFE,upstream_gene_variant,,ENST00000481121,;NELFE,upstream_gene_variant,,ENST00000491139,;SKIV2L,upstream_gene_variant,,ENST00000466290,;	325	87	111	SUCCESS
TEAD3	7005	.	GRCh37	6	35443156	35443156	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	59	0	ENST00000338863.7:c.1151A>G	p.Lys384Arg	p.K384R	ENST00000338863	NM_003214.3	384	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS47414.1	1151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACTTCTCG	NONE	.	.	hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF1,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500720	.	.	ENSP00000345772	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000338863	Transcript	.	.	ENSG00000007866	11716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.33)	.	TEAD3_HUMAN	TEAD3	HGNC	.	.	UPI000015C249	SNV	TEAD3,missense_variant,p.Lys324Arg,ENST00000402886,;TEAD3,missense_variant,p.Lys384Arg,ENST00000338863,;TEAD3,downstream_gene_variant,,ENST00000433586,;RPL10A,downstream_gene_variant,,ENST00000322203,;RPL10A,downstream_gene_variant,,ENST00000464112,;RPL10A,downstream_gene_variant,,ENST00000478340,;RPL10A,downstream_gene_variant,,ENST00000467020,;RPL10A,downstream_gene_variant,,ENST00000490335,;	1379	59	54	SUCCESS
TJAP1	93643	.	GRCh37	6	43473578	43473578	+	synonymous_variant	Silent	SNP	C	C	G	rs766619846	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	52	0	ENST00000372445.5:c.1659C>G	p.Gly553=	p.G553=	ENST00000372445	NM_001146016.1	553	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS55004.1	1659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCAACCT	NONE	.	.	Pfam_domain:PF15453	.	.	ENSP00000361522	.	11/11	.	.	.	.	.	.	.	.	rs766619846	11/11	PASS	ENST00000372445	Transcript	.	.	ENSG00000137221	17949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TJAP1_HUMAN	TJAP1	HGNC	E2QRK7_HUMAN,B3KT40_HUMAN	.	UPI00004A3A96	SNV	TJAP1,synonymous_variant,p.%3D,ENST00000372449,;TJAP1,synonymous_variant,p.%3D,ENST00000438588,;TJAP1,synonymous_variant,p.%3D,ENST00000372445,;TJAP1,synonymous_variant,p.%3D,ENST00000259751,;TJAP1,synonymous_variant,p.%3D,ENST00000436109,;TJAP1,synonymous_variant,p.%3D,ENST00000372444,;TJAP1,synonymous_variant,p.%3D,ENST00000372452,;TJAP1,3_prime_UTR_variant,,ENST00000454762,;TJAP1,downstream_gene_variant,,ENST00000372454,;LRRC73,downstream_gene_variant,,ENST00000372441,;POLR1C,upstream_gene_variant,,ENST00000428025,;TJAP1,downstream_gene_variant,,ENST00000442878,;TJAP1,non_coding_transcript_exon_variant,,ENST00000483640,;TJAP1,downstream_gene_variant,,ENST00000459851,;TJAP1,downstream_gene_variant,,ENST00000478173,;TJAP1,downstream_gene_variant,,ENST00000490050,;	2035	52	68	SUCCESS
TFAP2B	7021	.	GRCh37	6	50803851	50803851	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs756874298	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	9	101	0	ENST00000393655.3:c.679G>C	p.Gly227Arg	p.G227R	ENST00000393655	NM_003221.3	227	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS4934.2	679	MUTECT|MUSE	.	ACACCGGCGAG	NONE	byFrequency	.	hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812,Prints_domain:PR01750	.	.	ENSP00000377265	.	4/7	.	.	.	.	.	.	.	.	rs756874298	4/7	PASS	ENST00000393655	Transcript	.	.	ENSG00000008196	11743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.302)	.	tolerated(0.19)	.	AP2B_HUMAN	TFAP2B	HGNC	A8K557_HUMAN	.	UPI000020DE90	SNV	TFAP2B,missense_variant,p.Gly227Arg,ENST00000393655,;TFAP2B,missense_variant,p.Gly236Arg,ENST00000263046,;	848	101	140	SUCCESS
HCRTR2	3062	.	GRCh37	6	55120007	55120007	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	63	74	0	ENST00000370862.3:c.476C>T	p.Pro159Leu	p.P159L	ENST00000370862	NM_001526.3	159	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4956.1	476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCTTTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01064	.	.	ENSP00000359899	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000370862	Transcript	.	.	ENSG00000137252	4849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OX2R_HUMAN	HCRTR2	HGNC	S4X0W3_HUMAN,A6N9G8_HUMAN	.	UPI000013D07A	SNV	HCRTR2,missense_variant,p.Pro159Leu,ENST00000370862,;	812	74	119	SUCCESS
HMGCLL1	54511	.	GRCh37	6	55300495	55300495	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	29	111	0	ENST00000398661.2:c.1078A>T	p.Asn360Tyr	p.N360Y	ENST00000398661	NM_019036.2	360	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS43475.1	1078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTTTGTGG	NONE	.	.	hmmpanther:PTHR10277:SF33,hmmpanther:PTHR10277,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	.	.	ENSP00000381654	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000398661	Transcript	.	.	ENSG00000146151	21359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	HMGC2_HUMAN	HMGCLL1	HGNC	.	.	UPI000023780E	SNV	HMGCLL1,missense_variant,p.Asn298Tyr,ENST00000308161,;HMGCLL1,missense_variant,p.Asn360Tyr,ENST00000398661,;HMGCLL1,missense_variant,p.Asn227Tyr,ENST00000370850,;HMGCLL1,missense_variant,p.Asn330Tyr,ENST00000274901,;HMGCLL1,missense_variant,p.Asn164Tyr,ENST00000508459,;HMGCLL1,non_coding_transcript_exon_variant,,ENST00000507223,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,;	1210	111	106	SUCCESS
BAI3	0	.	GRCh37	6	70071152	70071152	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	104	0	ENST00000370598.1:c.3987T>C	p.Asn1329=	p.N1329=	ENST00000370598	NM_001704.2	1329	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS4968.1	3987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATATTGG	NONE	.	.	.	.	.	ENSP00000359630	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,synonymous_variant,p.%3D,ENST00000546190,;BAI3,synonymous_variant,p.%3D,ENST00000238918,;BAI3,synonymous_variant,p.%3D,ENST00000370598,;	4808	104	73	SUCCESS
TMEM229A	730130	.	GRCh37	7	123673343	123673343	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	23	115	0	ENST00000455783.1:c.-286del		p.*96*	ENST00000455783	NM_001136002.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47694.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTCTCACCCT	NONE	.	.	.	.	.	ENSP00000395244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000455783	Transcript	.	.	ENSG00000234224	37279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	T229A_HUMAN	TMEM229A	HGNC	.	.	UPI0001823FDC	deletion	TMEM229A,5_prime_UTR_variant,,ENST00000455783,;RP5-921G16.1,intron_variant,,ENST00000484322,;	181	115	108	SUCCESS
FLNC	2318	.	GRCh37	7	128494870	128494870	+	synonymous_variant	Silent	SNP	C	C	T	rs769053602	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	137	0	ENST00000325888.8:c.7039C>T	p.Leu2347=	p.L2347=	ENST00000325888	NM_001458.4	2347	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43644.1	7039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCTGTCC	NONE	byFrequency	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	42/48	.	.	.	.	.	.	.	.	rs769053602	42/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;RP11-309L24.2,intron_variant,,ENST00000469965,;	7300	137	81	SUCCESS
CNOT4	4850	.	GRCh37	7	135099083	135099083	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	64	0	ENST00000315544.5:c.558T>A	p.Leu186=	p.L186=	ENST00000315544	NM_001190848.1	186	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55165.1	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTAAGTGT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2,Pfam_domain:PF13893,Gene3D:3.30.70.330,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000445508	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	SNV	CNOT4,synonymous_variant,p.%3D,ENST00000356162,;CNOT4,synonymous_variant,p.%3D,ENST00000541284,;CNOT4,synonymous_variant,p.%3D,ENST00000451834,;CNOT4,synonymous_variant,p.%3D,ENST00000414802,;CNOT4,synonymous_variant,p.%3D,ENST00000423368,;CNOT4,synonymous_variant,p.%3D,ENST00000361528,;CNOT4,synonymous_variant,p.%3D,ENST00000428680,;CNOT4,synonymous_variant,p.%3D,ENST00000315544,;	889	64	60	SUCCESS
SSPO	0	.	GRCh37	7	149518154	149518154	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs563749259	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	49	0	ENST00000378016.2:n.12497C>A		p.*4166*	ENST00000378016				0	.	T:0	.	T:0	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CTGGTCGGCCT	NONE	by1000G	.	.	T:0	.	.	T:0	87/109	.	.	.	.	.	.	.	.	rs563749259	87/109	PASS	ENST00000378016	Transcript	.	T:0.0002	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000464974,;SSPO,upstream_gene_variant,,ENST00000492965,;SSPO,upstream_gene_variant,,ENST00000488835,;SSPO,downstream_gene_variant,,ENST00000478854,;SSPO,upstream_gene_variant,,ENST00000461331,;SSPO,upstream_gene_variant,,ENST00000493567,;SSPO,upstream_gene_variant,,ENST00000472850,;SSPO,upstream_gene_variant,,ENST00000465639,;	12497	49	40	SUCCESS
HTR5A	3361	.	GRCh37	7	154876098	154876098	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs868590290	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	158	0	ENST00000287907.2:c.975G>C	p.Trp325Cys	p.W325C	ENST00000287907	NM_024012.3	325	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS5936.1	975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGCTTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF14,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000287907	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000287907	Transcript	.	.	ENSG00000157219	5300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0.01)	.	5HT5A_HUMAN	HTR5A	HGNC	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN	.	UPI000004477E	SNV	HTR5A,missense_variant,p.Trp325Cys,ENST00000287907,;HTR5A,non_coding_transcript_exon_variant,,ENST00000486819,;	1551	158	109	SUCCESS
CCDC129	0	.	GRCh37	7	31592634	31592634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	87	0	ENST00000451887.2:c.74C>A	p.Ser25Tyr	p.S25Y	ENST00000451887	NM_001257968.1	25	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS59050.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTCTCCTA	NONE	.	.	.	.	.	ENSP00000395835	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.09)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Ser25Tyr,ENST00000451887,;CCDC129,5_prime_UTR_variant,,ENST00000454513,;CCDC129,5_prime_UTR_variant,,ENST00000456011,;CCDC129,5_prime_UTR_variant,,ENST00000319386,;CCDC129,5_prime_UTR_variant,,ENST00000409717,;CCDC129,5_prime_UTR_variant,,ENST00000407970,;CCDC129,upstream_gene_variant,,ENST00000409210,;CCDC129,intron_variant,,ENST00000482748,;CCDC129,upstream_gene_variant,,ENST00000471139,;	86	87	73	SUCCESS
ZNF3	7551	.	GRCh37	7	99674980	99674980	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	112	0	ENST00000299667.4:c.1A>T	p.Met1?	p.M1?	ENST00000299667		1	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS43619.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATGGAAG	NONE	.	.	.	.	.	ENSP00000306372	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000303915	Transcript	.	.	ENSG00000166526	13089	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	deleterious_low_confidence(0)	.	ZNF3_HUMAN	ZNF3	HGNC	Q86U76_HUMAN,C9JK31_HUMAN,C9JIW8_HUMAN,C9JE35_HUMAN,C9J5S8_HUMAN	.	UPI000000D9B2	SNV	ZNF3,start_lost,p.Met1?,ENST00000415068,;ZNF3,start_lost,p.Met1?,ENST00000428683,;ZNF3,start_lost,p.Met1?,ENST00000303915,;ZNF3,start_lost,p.Met1?,ENST00000449785,;ZNF3,start_lost,p.Met1?,ENST00000413658,;ZNF3,start_lost,p.Met1?,ENST00000424697,;ZNF3,start_lost,p.Met1?,ENST00000299667,;ZNF3,5_prime_UTR_variant,,ENST00000292393,;ZNF3,intron_variant,,ENST00000441298,;ZNF3,intron_variant,,ENST00000412947,;ZNF3,non_coding_transcript_exon_variant,,ENST00000466121,;ZNF3,non_coding_transcript_exon_variant,,ENST00000460331,;ZNF3,non_coding_transcript_exon_variant,,ENST00000485892,;ZNF3,non_coding_transcript_exon_variant,,ENST00000479192,;ZNF3,intron_variant,,ENST00000487620,;	969	112	90	SUCCESS
AZIN1	51582	.	GRCh37	8	103855817	103855817	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	17	148	0	ENST00000337198.5:c.64G>T	p.Gly22Ter	p.G22*	ENST00000337198	NM_148174.2	22	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS6295.1	64	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCAAGGT	NONE	.	.	hmmpanther:PTHR11482:SF7,hmmpanther:PTHR11482	.	.	ENSP00000337180	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000337198	Transcript	.	.	ENSG00000155096	16432	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AZIN1_HUMAN	AZIN1	HGNC	E5RJ16_HUMAN,E5RIB7_HUMAN	.	UPI00000722AD	SNV	AZIN1,stop_gained,p.Gly22Ter,ENST00000520402,;AZIN1,stop_gained,p.Gly22Ter,ENST00000347770,;AZIN1,stop_gained,p.Gly22Ter,ENST00000337198,;AZIN1,stop_gained,p.Gly22Ter,ENST00000521536,;AZIN1,stop_gained,p.Gly22Ter,ENST00000518353,;AZIN1,non_coding_transcript_exon_variant,,ENST00000522311,;AZIN1,downstream_gene_variant,,ENST00000518940,;	1228	148	174	SUCCESS
AGO2	27161	.	GRCh37	8	141559371	141559371	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	38	60	0	ENST00000220592.5:c.1430T>A	p.Ile477Asn	p.I477N	ENST00000220592	NM_012154.3	477	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS6380.1	1430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGATCTTT	NONE	.	.	Gene3D:3.40.50.2300,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF18,HAMAP:MF_03031	.	.	ENSP00000220592	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000220592	Transcript	.	.	ENSG00000123908	3263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	AGO2_HUMAN	AGO2	HGNC	E5RJY2_HUMAN	.	UPI0000168652	SNV	AGO2,missense_variant,p.Ile477Asn,ENST00000519980,;AGO2,missense_variant,p.Ile477Asn,ENST00000220592,;AGO2,3_prime_UTR_variant,,ENST00000523609,;	1543	60	58	SUCCESS
XKR4	114786	.	GRCh37	8	56015588	56015588	+	synonymous_variant	Silent	SNP	T	T	A	rs913159068	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	101	0	ENST00000327381.6:c.540T>A	p.Ala180=	p.A180=	ENST00000327381	NM_052898.1	180	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34893.1	540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTGCTGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,synonymous_variant,p.%3D,ENST00000327381,;	640	101	82	SUCCESS
TMEM67	91147	.	GRCh37	8	94770709	94770709	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	61	86	0	ENST00000453321.3:c.313-2A>G		p.X105_splice	ENST00000453321	NM_153704.5	105		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6258.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTAGAAAG	NONE	.	.	.	.	.	ENSP00000389998	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453321	Transcript	1	.	ENSG00000164953	28396	.	.	HIGH	2/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKS3_HUMAN	TMEM67	HGNC	E5RG10_HUMAN,C9JRQ8_HUMAN	.	UPI0000D624E9	SNV	TMEM67,splice_acceptor_variant,,ENST00000453906,;TMEM67,splice_acceptor_variant,,ENST00000452276,;TMEM67,splice_acceptor_variant,,ENST00000453321,;TMEM67,splice_acceptor_variant,,ENST00000521517,;TMEM67,splice_acceptor_variant,,ENST00000498673,;TMEM67,splice_region_variant,,ENST00000518319,;TMEM67,splice_region_variant,,ENST00000409623,;TMEM67,splice_acceptor_variant,,ENST00000455946,;TMEM67,splice_acceptor_variant,,ENST00000323130,;TMEM67,splice_acceptor_variant,,ENST00000474944,;TMEM67,splice_acceptor_variant,,ENST00000475305,;TMEM67,splice_acceptor_variant,,ENST00000521065,;TMEM67,splice_region_variant,,ENST00000521222,;TMEM67,downstream_gene_variant,,ENST00000481620,;	.	86	107	SUCCESS
KIAA1429	0	.	GRCh37	8	95550552	95550552	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	38	99	0	ENST00000297591.5:c.202C>T	p.Gln68Ter	p.Q68*	ENST00000297591	NM_015496.4	68	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS34923.1	202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTGAAATG	NONE	.	.	hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	.	.	ENSP00000297591	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,stop_gained,p.Gln68Ter,ENST00000297591,;KIAA1429,stop_gained,p.Gln68Ter,ENST00000421249,;KIAA1429,stop_gained,p.Gln68Ter,ENST00000437199,;RP11-267M23.3,downstream_gene_variant,,ENST00000521010,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000519001,;	278	99	131	SUCCESS
MATN2	4147	.	GRCh37	8	99006729	99006729	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	98	1	ENST00000254898.5:c.1103C>G	p.Ser368Cys	p.S368C	ENST00000254898	NM_002380.3	368	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS55264.1	1103	MUTECT|MUSE	.	CTCATCTAATC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR22992:SF17,hmmpanther:PTHR22992,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000430487	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000520016	Transcript	.	.	ENSG00000132561	6908	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.617)	.	deleterious(0.05)	.	MATN2_HUMAN	MATN2	HGNC	E5RJM4_HUMAN	.	UPI000021037B	SNV	MATN2,missense_variant,p.Ser65Cys,ENST00000522270,;MATN2,missense_variant,p.Ser151Cys,ENST00000518154,;MATN2,missense_variant,p.Ser84Cys,ENST00000519585,;MATN2,missense_variant,p.Ser368Cys,ENST00000521689,;MATN2,missense_variant,p.Ser368Cys,ENST00000254898,;MATN2,missense_variant,p.Ser368Cys,ENST00000520016,;MATN2,missense_variant,p.Ser84Cys,ENST00000522025,;MATN2,missense_variant,p.Ser123Cys,ENST00000521041,;MATN2,intron_variant,,ENST00000524308,;MATN2,non_coding_transcript_exon_variant,,ENST00000523490,;	1227	99	102	SUCCESS
MED27	9442	.	GRCh37	9	134952895	134952895	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	53	85	1	ENST00000292035.5:c.282G>T	p.Leu94=	p.L94=	ENST00000292035	NM_004269.3	94	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6945.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCAGGCT	NONE	.	.	hmmpanther:PTHR13130,hmmpanther:PTHR13130:SF4	.	.	ENSP00000292035	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000292035	Transcript	.	.	ENSG00000160563	2377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED27_HUMAN	MED27	HGNC	U4Q365_HUMAN	.	UPI0000161234	SNV	MED27,synonymous_variant,p.%3D,ENST00000292035,;MED27,synonymous_variant,p.%3D,ENST00000474263,;MED27,synonymous_variant,p.%3D,ENST00000357028,;RP11-32B11.2,non_coding_transcript_exon_variant,,ENST00000444872,;	346	86	89	SUCCESS
KCNT1	57582	.	GRCh37	9	138606439	138606439	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1257076052	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	105	0	ENST00000371757.2:c.127G>A	p.Asp43Asn	p.D43N	ENST00000371757	NM_020822.2	43	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS35175.2	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGACGGC	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.05)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Asp43Asn,ENST00000298480,;KCNT1,missense_variant,p.Asp43Asn,ENST00000371757,;KCNT1,5_prime_UTR_variant,,ENST00000473941,;KCNT1,5_prime_UTR_variant,,ENST00000486577,;KCNT1,intron_variant,,ENST00000487664,;KCNT1,missense_variant,p.Asp43Asn,ENST00000460750,;	194	105	73	SUCCESS
SPATA31A3	727830	.	GRCh37	9	40702772	40702772	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	100	322	0	ENST00000356699.5:c.429A>T	p.Glu143Asp	p.E143D	ENST00000356699	NM_001083124.1	143	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47969.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAGATGC	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF15371	.	.	ENSP00000349132	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356699	Transcript	.	.	ENSG00000147926	32003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated(0.36)	.	S31A3_HUMAN	SPATA31A3	HGNC	.	.	UPI00004588FC	SNV	SPATA31A3,missense_variant,p.Glu143Asp,ENST00000356699,;RP11-395E19.5,downstream_gene_variant,,ENST00000432614,;SPATA31A3,non_coding_transcript_exon_variant,,ENST00000463536,;	458	322	346	SUCCESS
JAK2	3717	.	GRCh37	9	5044434	5044434	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	91	0	ENST00000381652.3:c.382A>T	p.Ser128Cys	p.S128C	ENST00000381652	NM_004972.3	128	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS6457.1	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGCAAC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,PIRSF_domain:PIRSF000636,SMART_domains:SM00295,Prints_domain:PR01825	.	.	ENSP00000371067	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000381652	Transcript	.	.	ENSG00000096968	6192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	JAK2_HUMAN	JAK2	HGNC	Q8IXP2_HUMAN,F5H5U8_HUMAN	.	UPI000012DA9E	SNV	JAK2,missense_variant,p.Ser128Cys,ENST00000539801,;JAK2,missense_variant,p.Ser128Cys,ENST00000381652,;JAK2,5_prime_UTR_variant,,ENST00000544510,;RP11-39K24.2,downstream_gene_variant,,ENST00000442675,;	876	91	92	SUCCESS
GPC3	2719	.	GRCh37	X	132834048	132834048	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775325256	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	300	212	342	3	ENST00000370818.3:c.1041G>T	p.Lys347Asn	p.K347N	ENST00000370818	NM_001164618.1	347	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS55496.1	1110	RADIA|VARSCANS	.	CATAACTTGCC	NONE	byFrequency	.	Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF4	.	.	ENSP00000377836	.	5/9	.	.	.	.	.	.	.	.	rs775325256	5/9	PASS	ENST00000394299	Transcript	.	.	ENSG00000147257	4451	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.542)	.	deleterious(0)	.	GPC3_HUMAN	GPC3	HGNC	.	.	UPI00015E044A	SNV	GPC3,missense_variant,p.Lys77Asn,ENST00000406757,;GPC3,missense_variant,p.Lys370Asn,ENST00000394299,;GPC3,missense_variant,p.Lys347Asn,ENST00000370818,;GPC3,missense_variant,p.Lys293Asn,ENST00000543339,;	1307	345	512	SUCCESS
AFF2	2334	.	GRCh37	X	148037839	148037839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1557287335	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	65	121	0	ENST00000370460.2:c.2264C>T	p.Thr755Ile	p.T755I	ENST00000370460	NM_002025.3	755	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS14684.1	2264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACCCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.241)	.	tolerated(0.12)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Thr755Ile,ENST00000370460,;AFF2,missense_variant,p.Thr722Ile,ENST00000342251,;AFF2,missense_variant,p.Thr396Ile,ENST00000286437,;AFF2,missense_variant,p.Thr722Ile,ENST00000370457,;	2743	121	152	SUCCESS
NAP1L3	4675	.	GRCh37	X	92928304	92928304	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs766425655	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	64	94	0	ENST00000373079.3:c.-1G>T		p.*1*	ENST00000373079	NM_004538.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14465.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCTTGCA	NONE	byFrequency	.	.	.	.	ENSP00000362171	.	1/1	.	.	.	.	.	.	.	.	rs766425655	1/1	PASS	ENST00000373079	Transcript	.	.	ENSG00000186310	7639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NP1L3_HUMAN	NAP1L3	HGNC	.	.	UPI0000167B31	SNV	NAP1L3,splice_region_variant,,ENST00000475430,;NAP1L3,5_prime_UTR_variant,,ENST00000373079,;FAM133A,upstream_gene_variant,,ENST00000355813,;FAM133A,upstream_gene_variant,,ENST00000538690,;FAM133A,upstream_gene_variant,,ENST00000332647,;FAM133A,upstream_gene_variant,,ENST00000322139,;	264	94	157	SUCCESS
PTF1A	256297	.	GRCh37	10	23481841	23481841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	32	0	ENST00000376504.3:c.382G>T	p.Gly128Trp	p.G128W	ENST00000376504	NM_178161.2	128	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS7143.1	382	RADIA|MUTECT|MUSE	.	GCGCCGGGGCG	NONE	.	.	hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF44	.	.	ENSP00000365687	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376504	Transcript	1	.	ENSG00000168267	23734	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0)	.	PTF1A_HUMAN	PTF1A	HGNC	.	.	UPI000018F612	SNV	PTF1A,missense_variant,p.Gly128Trp,ENST00000376504,;	586	32	32	SUCCESS
SAA4	6291	.	GRCh37	11	18254009	18254009	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	119	0	ENST00000278222.4:c.163T>A	p.Tyr55Asn	p.Y55N	ENST00000278222	NM_006512.3	55	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS7832.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATAGAGAT	NONE	.	.	hmmpanther:PTHR23424:SF3,hmmpanther:PTHR23424,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197,Prints_domain:PR00306	.	.	ENSP00000278222	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000278222	Transcript	.	.	ENSG00000148965	10516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.339)	.	deleterious(0)	.	SAA4_HUMAN	SAA4	HGNC	.	.	UPI00001AEA25	SNV	SAA4,missense_variant,p.Tyr55Asn,ENST00000278222,;SAA2-SAA4,non_coding_transcript_exon_variant,,ENST00000524555,;	344	119	96	SUCCESS
NLRP6	171389	.	GRCh37	11	281192	281192	+	synonymous_variant	Silent	SNP	G	G	T	rs764703458	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	124	0	ENST00000312165.5:c.1458G>T	p.Pro486=	p.P486=	ENST00000312165	NM_001276700.1	486	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7693.1	1458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGGGCGT	NONE	byFrequency	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3,PROSITE_profiles:PS50837	.	.	ENSP00000309767	.	4/8	.	.	.	.	.	.	.	.	rs764703458	4/8	PASS	ENST00000312165	Transcript	.	.	ENSG00000174885	22944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP6_HUMAN	NLRP6	HGNC	.	.	UPI00001AEFE1	SNV	NLRP6,synonymous_variant,p.%3D,ENST00000534750,;NLRP6,synonymous_variant,p.%3D,ENST00000312165,;NLRP6,downstream_gene_variant,,ENST00000527946,;	1458	124	94	SUCCESS
OTUB1	55611	.	GRCh37	11	63753947	63753947	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	13	146	0	ENST00000428192.2:c.19C>T	p.Gln7Ter	p.Q7*	ENST00000428192		7	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS8055.1	19	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12931,hmmpanther:PTHR12931:SF16,PIRSF_domain:PIRSF013503	.	.	ENSP00000444357	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000538426	Transcript	.	.	ENSG00000167770	23077	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTUB1_HUMAN	OTUB1	HGNC	F5GYN4_HUMAN	.	UPI000000D868	SNV	OTUB1,stop_gained,p.Gln7Ter,ENST00000543004,;OTUB1,stop_gained,p.Gln7Ter,ENST00000538426,;OTUB1,stop_gained,p.Gln7Ter,ENST00000535715,;OTUB1,stop_gained,p.Gln44Ter,ENST00000422031,;OTUB1,stop_gained,p.Gln7Ter,ENST00000541478,;OTUB1,stop_gained,p.Gln7Ter,ENST00000428192,;AP000721.4,missense_variant,p.Ser150Leu,ENST00000535431,;OTUB1,upstream_gene_variant,,ENST00000543988,;OTUB1,non_coding_transcript_exon_variant,,ENST00000536443,;OTUB1,non_coding_transcript_exon_variant,,ENST00000447683,;OTUB1,non_coding_transcript_exon_variant,,ENST00000301453,;OTUB1,upstream_gene_variant,,ENST00000535140,;	63	146	114	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43748039	43748039	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	77	0	ENST00000389420.3:c.5706T>C	p.Thr1902=	p.T1902=	ENST00000389420	NM_025003.3	1902	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31778.2	5706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTAGTCAT	NONE	.	.	PROSITE_profiles:PS51046,Pfam_domain:PF08685	.	.	ENSP00000374071	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;	5706	77	78	SUCCESS
APOF	319	.	GRCh37	12	56755172	56755172	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	6	95	0	ENST00000398189.3:c.818C>T	p.Thr273Ile	p.T273I	ENST00000398189	NM_001638.2	273	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS44923.1	818	MUTECT|MUSE|VARSCANS	.	TGGTGGTCTCC	NONE	.	.	hmmpanther:PTHR15011,hmmpanther:PTHR15011:SF3	.	.	ENSP00000381250	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398189	Transcript	.	.	ENSG00000175336	615	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.126)	.	tolerated(0.2)	.	APOF_HUMAN	APOF	HGNC	F5GXS5_HUMAN	.	UPI0000167B1E	SNV	APOF,missense_variant,p.Thr273Ile,ENST00000398189,;APOF,missense_variant,p.Thr255Ile,ENST00000541105,;STAT2,upstream_gene_variant,,ENST00000418572,;STAT2,upstream_gene_variant,,ENST00000557235,;STAT2,upstream_gene_variant,,ENST00000314128,;STAT2,upstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000555646,;STAT2,upstream_gene_variant,,ENST00000557417,;	896	95	74	SUCCESS
HHIPL1	84439	.	GRCh37	14	100135258	100135258	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	53	0	ENST00000330710.5:c.1730+618G>A		p.*577*	ENST00000330710	NM_001127258.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45162.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGGAAAT	NONE	.	.	.	.	.	ENSP00000330601	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330710	Transcript	.	.	ENSG00000182218	19710	.	.	MODIFIER	7/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIPL1_HUMAN	HHIPL1	HGNC	F1T0G3_HUMAN	.	UPI000022988D	SNV	HHIPL1,stop_gained,p.Trp607Ter,ENST00000357223,;HHIPL1,intron_variant,,ENST00000330710,;	.	53	41	SUCCESS
NOP9	161424	.	GRCh37	14	24769729	24769729	+	synonymous_variant	Silent	SNP	G	G	T	rs374464981	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	35	0	ENST00000267425.3:c.363G>T	p.Pro121=	p.P121=	ENST00000267425	NM_174913.1	121	ccG/ccT	0	C:0	.	.	.	.	T	P	protein_coding	YES	CCDS9624.1	363	MUTECT|MUSE	.	AAACCGCTTTG	NONE	byCluster	.	hmmpanther:PTHR13102,hmmpanther:PTHR13102:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	C:0.0001	ENSP00000267425	.	2/10	.	.	.	.	.	.	.	.	rs374464981	2/10	PASS	ENST00000267425	Transcript	.	.	ENSG00000196943	19826	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOP9_HUMAN	NOP9	HGNC	B3KVY3_HUMAN	.	UPI000000CBCF	SNV	NOP9,synonymous_variant,p.%3D,ENST00000267425,;NOP9,synonymous_variant,p.%3D,ENST00000396802,;DHRS1,upstream_gene_variant,,ENST00000288111,;CIDEB,downstream_gene_variant,,ENST00000554411,;CIDEB,downstream_gene_variant,,ENST00000336557,;NOP9,upstream_gene_variant,,ENST00000557362,;CIDEB,downstream_gene_variant,,ENST00000258807,;DHRS1,upstream_gene_variant,,ENST00000396813,;DHRS1,upstream_gene_variant,,ENST00000559483,;DHRS1,upstream_gene_variant,,ENST00000561273,;DHRS1,upstream_gene_variant,,ENST00000558114,;DHRS1,upstream_gene_variant,,ENST00000558340,;DHRS1,upstream_gene_variant,,ENST00000560991,;	456	35	54	SUCCESS
SERPINA6	866	.	GRCh37	14	94780763	94780763	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	87	0	ENST00000341584.3:c.223G>C	p.Ala75Pro	p.A75P	ENST00000341584	NM_001756.3	75	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS9924.1	223	MUTECT|MUSE	.	CATAGCTAAGG	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461	.	.	ENSP00000342850	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000341584	Transcript	1	.	ENSG00000170099	1540	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CBG_HUMAN	SERPINA6	HGNC	G3V4V7_HUMAN	.	UPI0000127182	SNV	SERPINA6,missense_variant,p.Ala75Pro,ENST00000341584,;SERPINA6,missense_variant,p.Ala75Pro,ENST00000557225,;SERPINA6,missense_variant,p.Ala75Pro,ENST00000555056,;	370	87	102	SUCCESS
NPAP1	23742	.	GRCh37	15	24921813	24921813	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776643326	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	6	75	0	ENST00000329468.2:c.799G>A	p.Val267Ile	p.V267I	ENST00000329468	NM_018958.2	267	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10015.1	799	MUTECT|MUSE|VARSCANS	.	CAGCCGTTGGC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	rs776643326,COSM433644	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.05)	.	tolerated(0.16)	0,1	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Val267Ile,ENST00000329468,;	1273	75	70	SUCCESS
OTUD7A	161725	.	GRCh37	15	31776670	31776670	+	synonymous_variant	Silent	SNP	G	G	A	rs770943741	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	18	0	ENST00000307050.4:c.1608C>T	p.Gly536=	p.G536=	ENST00000307050	NM_130901.1	536	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10026.1	1608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCGCCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367	.	.	ENSP00000305926	.	11/11	.	.	.	.	.	.	.	.	rs770943741	11/11	PASS	ENST00000307050	Transcript	.	.	ENSG00000169918	20718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTU7A_HUMAN	OTUD7A	HGNC	H0YN66_HUMAN	.	UPI0000073AA5	SNV	OTUD7A,synonymous_variant,p.%3D,ENST00000382902,;OTUD7A,synonymous_variant,p.%3D,ENST00000307050,;	1701	18	25	SUCCESS
HIRIP3	8479	.	GRCh37	16	30006907	30006907	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	109	0	ENST00000279392.3:c.20T>C	p.Met7Thr	p.M7T	ENST00000279392	NM_003609.4	7	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS10664.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCATCTCC	NONE	.	.	hmmpanther:PTHR15410,hmmpanther:PTHR15410:SF2	.	.	ENSP00000279392	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000279392	Transcript	.	.	ENSG00000149929	4917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious(0)	.	HIRP3_HUMAN	HIRIP3	HGNC	B3KQL0_HUMAN	.	UPI000013DBC9	SNV	HIRIP3,missense_variant,p.Met7Thr,ENST00000564026,;HIRIP3,missense_variant,p.Met7Thr,ENST00000279392,;INO80E,5_prime_UTR_variant,,ENST00000563197,;TAOK2,downstream_gene_variant,,ENST00000279394,;INO80E,upstream_gene_variant,,ENST00000567254,;INO80E,upstream_gene_variant,,ENST00000304516,;INO80E,upstream_gene_variant,,ENST00000567705,;HIRIP3,non_coding_transcript_exon_variant,,ENST00000566471,;INO80E,upstream_gene_variant,,ENST00000563040,;HIRIP3,non_coding_transcript_exon_variant,,ENST00000563680,;HIRIP3,non_coding_transcript_exon_variant,,ENST00000563053,;HIRIP3,non_coding_transcript_exon_variant,,ENST00000568880,;HIRIP3,non_coding_transcript_exon_variant,,ENST00000565996,;INO80E,upstream_gene_variant,,ENST00000567987,;INO80E,upstream_gene_variant,,ENST00000568043,;INO80E,upstream_gene_variant,,ENST00000540562,;TAOK2,downstream_gene_variant,,ENST00000570844,;INO80E,upstream_gene_variant,,ENST00000569957,;INO80E,upstream_gene_variant,,ENST00000567065,;INO80E,upstream_gene_variant,,ENST00000380503,;INO80E,upstream_gene_variant,,ENST00000562441,;	851	109	98	SUCCESS
CLTC	1213	.	GRCh37	17	57761270	57761270	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748731820	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	7	178	0	ENST00000269122.3:c.4358G>A	p.Arg1453His	p.R1453H	ENST00000269122	NM_004859.3	1453	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32696.1	4358	MUTECT|MUSE	.	TTTGCGTTCAG	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	28/32	.	.	.	.	.	.	.	.	rs748731820	28/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.811)	.	tolerated(0.55)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Arg1453His,ENST00000269122,;CLTC,missense_variant,p.Arg1453His,ENST00000393043,;CLTC,missense_variant,p.Arg2His,ENST00000472651,;CLTC,missense_variant,p.Arg390His,ENST00000579456,;CLTC,upstream_gene_variant,,ENST00000475458,;PTRH2,intron_variant,,ENST00000587935,;CLTC,non_coding_transcript_exon_variant,,ENST00000496076,;	4632	178	180	SUCCESS
KLHL21	9903	.	GRCh37	1	6662605	6662605	+	synonymous_variant	Silent	SNP	C	C	T	rs570481805	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	35	1	ENST00000377658.4:c.273G>A	p.Leu91=	p.L91=	ENST00000377658	NM_014851.2	91	ctG/ctA	0	.	T:0.0008	.	T:0	.	T	L	protein_coding	YES	CCDS30575.1	273	MUTECT|MUSE|VARSCANS	.	AAGTCCAGCAG	NONE	by1000G	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF7,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	T:0	.	ENSP00000366886	T:0	1/4	.	.	.	.	.	.	.	.	rs570481805	1/4	PASS	ENST00000377658	Transcript	.	T:0.0002	ENSG00000162413	29041	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	KLH21_HUMAN	KLHL21	HGNC	Q2NKK7_HUMAN,K7ESH2_HUMAN,K7EMF2_HUMAN,K7ELI0_HUMAN	.	UPI0000070D85	SNV	KLHL21,synonymous_variant,p.%3D,ENST00000377663,;KLHL21,synonymous_variant,p.%3D,ENST00000377658,;KLHL21,intron_variant,,ENST00000463043,;KLHL21,intron_variant,,ENST00000467612,;KLHL21,upstream_gene_variant,,ENST00000496707,;	325	36	32	SUCCESS
DRG1	4733	.	GRCh37	22	31795651	31795651	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	86	0	ENST00000331457.4:c.-19C>T		p.*7*	ENST00000331457	NM_004147.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13897.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCACAG	NONE	.	.	.	.	.	ENSP00000329715	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000331457	Transcript	.	.	ENSG00000185721	3029	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRG1_HUMAN	DRG1	HGNC	Q9UFA5_HUMAN	.	UPI0000129879	SNV	DRG1,5_prime_UTR_variant,,ENST00000331457,;DRG1,non_coding_transcript_exon_variant,,ENST00000433341,;DRG1,non_coding_transcript_exon_variant,,ENST00000486584,;DRG1,5_prime_UTR_variant,,ENST00000416465,;	143	86	63	SUCCESS
XIRP2	129446	.	GRCh37	2	168100057	168100057	+	synonymous_variant	Silent	SNP	A	A	C	rs768245433	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	295	8	314	0	ENST00000409195.1:c.2155A>C	p.Arg719=	p.R719=	ENST00000409195	NM_152381.5	719	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS42769.1	2155	MUTECT|MUSE	.	AGCTTAGGTCT	NONE	byFrequency	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs768245433	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2244	314	303	SUCCESS
HDAC4	9759	.	GRCh37	2	240066296	240066296	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs115358346	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	93	0	ENST00000345617.3:c.848G>A	p.Arg283His	p.R283H	ENST00000345617	NM_006037.3	283	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2529.1	848	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGACGCTTT	NONE	byCluster|by1000G	.	PIRSF_domain:PIRSF037911	.	.	ENSP00000264606	.	8/27	.	.	.	.	.	.	.	.	rs115358346	8/27	PASS	ENST00000345617	Transcript	.	.	ENSG00000068024	14063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.88)	.	deleterious(0)	.	HDAC4_HUMAN	HDAC4	HGNC	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN	.	UPI000013D541	SNV	HDAC4,missense_variant,p.Arg252His,ENST00000541256,;HDAC4,missense_variant,p.Arg283His,ENST00000345617,;HDAC4,5_prime_UTR_variant,,ENST00000543185,;HDAC4,upstream_gene_variant,,ENST00000445704,;HDAC4,non_coding_transcript_exon_variant,,ENST00000553145,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,non_coding_transcript_exon_variant,,ENST00000461113,;	1640	93	72	SUCCESS
LHCGR	3973	.	GRCh37	2	48982761	48982761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	63	0	ENST00000294954.7:c.50T>A	p.Leu17Gln	p.L17Q	ENST00000294954	NM_000233.3	17	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1842.1	50	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCAGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1	.	.	ENSP00000294954	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,missense_variant,p.Leu17Gln,ENST00000403273,;LHCGR,missense_variant,p.Leu17Gln,ENST00000405626,;LHCGR,missense_variant,p.Leu17Gln,ENST00000344775,;LHCGR,missense_variant,p.Leu17Gln,ENST00000401907,;LHCGR,missense_variant,p.Leu17Gln,ENST00000294954,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;LHCGR,upstream_gene_variant,,ENST00000428232,;LHCGR,missense_variant,p.Leu17Gln,ENST00000602369,;	72	63	39	SUCCESS
WNT7A	7476	.	GRCh37	3	13921289	13921289	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs145718587	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	32	203	0	ENST00000285018.4:c.25C>G	p.Leu9Val	p.L9V	ENST00000285018	NM_004625.3	9	Ctg/Gtg	0	A:0	.	.	.	.	C	L/V	protein_coding	YES	CCDS2616.1	25	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGCAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12027:SF78,hmmpanther:PTHR12027	.	A:0.0005	ENSP00000285018	.	1/4	.	.	.	.	.	.	.	.	rs145718587	1/4	PASS	ENST00000285018	Transcript	.	.	ENSG00000154764	12786	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.07)	.	WNT7A_HUMAN	WNT7A	HGNC	.	.	UPI0000033777	SNV	WNT7A,missense_variant,p.Leu9Val,ENST00000285018,;WNT7A,upstream_gene_variant,,ENST00000497808,;WNT7A,upstream_gene_variant,,ENST00000489346,;	330	203	194	SUCCESS
CDH9	1007	.	GRCh37	5	26885762	26885762	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	27	149	0	ENST00000231021.4:c.1843G>A	p.Ala615Thr	p.A615T	ENST00000231021	NM_016279.3	615	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3893.1	1843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCTCCCG	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000231021	.	11/12	.	.	.	.	.	.	.	.	COSM1543357	11/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.989)	.	deleterious(0.02)	1	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Ala615Thr,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2016	149	148	SUCCESS
PON2	5445	.	GRCh37	7	95040997	95040997	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	25	157	0	ENST00000222572.3:c.462T>G	p.His154Gln	p.H154Q	ENST00000222572		154	caT/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS5640.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGATGCAA	NONE	.	.	hmmpanther:PTHR11799:SF4,hmmpanther:PTHR11799,Gene3D:2.120.10.30,Superfamily_domains:SSF63829	.	.	ENSP00000222572	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000222572	Transcript	.	.	ENSG00000105854	9205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PON2_HUMAN	PON2	HGNC	.	.	UPI000000D8F3	SNV	PON2,missense_variant,p.His154Gln,ENST00000222572,;PON2,missense_variant,p.His142Gln,ENST00000433091,;PON2,missense_variant,p.His175Gln,ENST00000536183,;GS1-293C5.1,upstream_gene_variant,,ENST00000608730,;PON2,non_coding_transcript_exon_variant,,ENST00000483292,;PON2,non_coding_transcript_exon_variant,,ENST00000491069,;PON2,non_coding_transcript_exon_variant,,ENST00000490778,;PON2,non_coding_transcript_exon_variant,,ENST00000469926,;PON2,downstream_gene_variant,,ENST00000478801,;PON2,downstream_gene_variant,,ENST00000493290,;PON2,downstream_gene_variant,,ENST00000460873,;PON2,missense_variant,p.His154Gln,ENST00000455123,;PON2,3_prime_UTR_variant,,ENST00000446142,;PON2,downstream_gene_variant,,ENST00000493469,;PON2,upstream_gene_variant,,ENST00000459842,;	709	157	139	SUCCESS
XPO7	23039	.	GRCh37	8	21839346	21839346	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	94	0	ENST00000252512.9:c.1062G>A	p.Glu354=	p.E354=	ENST00000252512	NM_015024.4	354	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS47818.1	1062	MUTECT|MUSE	.	CCTGAGGTCAT	NONE	.	.	hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7,Superfamily_domains:SSF48371	.	.	ENSP00000252512	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000252512	Transcript	.	.	ENSG00000130227	14108	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XPO7_HUMAN	XPO7	HGNC	E5RIW1_HUMAN,B4DSP8_HUMAN	.	UPI0000134559	SNV	XPO7,synonymous_variant,p.%3D,ENST00000252512,;XPO7,synonymous_variant,p.%3D,ENST00000434536,;XPO7,synonymous_variant,p.%3D,ENST00000433566,;	1162	94	91	SUCCESS
FAM3A	60343	.	GRCh37	X	153735650	153735650	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	12	121	0	ENST00000359889.5:c.481G>C	p.Glu161Gln	p.E161Q	ENST00000359889	NM_001171132.1	161	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS35453.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCTTCAT	NONE	.	.	hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF9	.	.	ENSP00000416146	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000447601	Transcript	.	.	ENSG00000071889	13749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0.02)	.	FAM3A_HUMAN	FAM3A	HGNC	.	.	UPI0000169ECD	SNV	FAM3A,missense_variant,p.Glu161Gln,ENST00000369643,;FAM3A,missense_variant,p.Glu123Gln,ENST00000393572,;FAM3A,missense_variant,p.Glu144Gln,ENST00000434658,;FAM3A,missense_variant,p.Glu161Gln,ENST00000447601,;FAM3A,missense_variant,p.Glu161Gln,ENST00000359889,;FAM3A,missense_variant,p.Glu168Gln,ENST00000369641,;FAM3A,downstream_gene_variant,,ENST00000442929,;FAM3A,downstream_gene_variant,,ENST00000426266,;FAM3A,downstream_gene_variant,,ENST00000497506,;FAM3A,downstream_gene_variant,,ENST00000492763,;FAM3A,3_prime_UTR_variant,,ENST00000322269,;FAM3A,3_prime_UTR_variant,,ENST00000416319,;FAM3A,3_prime_UTR_variant,,ENST00000449971,;FAM3A,3_prime_UTR_variant,,ENST00000419205,;FAM3A,non_coding_transcript_exon_variant,,ENST00000469041,;FAM3A,non_coding_transcript_exon_variant,,ENST00000475657,;FAM3A,downstream_gene_variant,,ENST00000440318,;FAM3A,downstream_gene_variant,,ENST00000433619,;FAM3A,downstream_gene_variant,,ENST00000457212,;FAM3A,downstream_gene_variant,,ENST00000412894,;FAM3A,downstream_gene_variant,,ENST00000421517,;	948	121	94	SUCCESS
MAGEB2	4113	.	GRCh37	X	30237528	30237528	+	synonymous_variant	Silent	SNP	G	G	A	rs760918442	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	7	201	1	ENST00000378988.4:c.831G>A	p.Pro277=	p.P277=	ENST00000378988	NM_002364.4	277	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14219.1	831	MUTECT|MUSE	.	GGTCCGAGAGC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736:SF22,hmmpanther:PTHR11736,PROSITE_profiles:PS50838	.	.	ENSP00000368273	.	2/2	.	.	.	.	.	.	.	.	rs760918442	2/2	PASS	ENST00000378988	Transcript	.	.	ENSG00000099399	6809	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAGB2_HUMAN	MAGEB2	HGNC	.	.	UPI000013C683	SNV	MAGEB2,synonymous_variant,p.%3D,ENST00000378988,;	932	202	191	SUCCESS
FAM47B	170062	.	GRCh37	X	34962585	34962585	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	12	147	0	ENST00000329357.5:c.1637T>A	p.Ile546Lys	p.I546K	ENST00000329357	NM_152631.2	546	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS14236.1	1637	MUTECT|MUSE|VARSCANS	.	GAGGATAAGGT	NONE	.	.	.	.	.	ENSP00000328307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329357	Transcript	.	.	ENSG00000189132	26659	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.069)	.	deleterious(0)	.	FA47B_HUMAN	FAM47B	HGNC	.	.	UPI000013F47B	SNV	FAM47B,missense_variant,p.Ile546Lys,ENST00000329357,;	1673	147	153	SUCCESS
VTI1A	143187	.	GRCh37	10	114298012	114298012	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	270	47	436	0	ENST00000393077.2:c.350A>T	p.His117Leu	p.H117L	ENST00000393077	NM_145206.2	117	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS7575.2	350	RADIA|MUTECT|MUSE|VARSCANS	.	GGCACATCTGC	NONE	.	.	hmmpanther:PTHR21230,hmmpanther:PTHR21230:SF26,SMART_domains:SM00397	.	.	ENSP00000376792	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000393077	Transcript	.	.	ENSG00000151532	17792	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	deleterious(0.02)	.	VTI1A_HUMAN	VTI1A	HGNC	.	.	UPI0000DD7870	SNV	VTI1A,missense_variant,p.His117Leu,ENST00000432306,;VTI1A,missense_variant,p.His117Leu,ENST00000393077,;VTI1A,non_coding_transcript_exon_variant,,ENST00000489357,;VTI1A,non_coding_transcript_exon_variant,,ENST00000496445,;	466	436	318	SUCCESS
ARMC4	0	.	GRCh37	10	28228827	28228827	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	12	71	0	ENST00000305242.5:c.2096A>G	p.Gln699Arg	p.Q699R	ENST00000305242	NM_018076.2	699	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7157.1	2096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGGTAA	NONE	.	.	hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000306410	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000305242	Transcript	1	.	ENSG00000169126	25583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.02)	.	ARMC4_HUMAN	ARMC4	HGNC	R4GN11_HUMAN,A8K906_HUMAN	.	UPI00001A95E1	SNV	ARMC4,missense_variant,p.Gln224Arg,ENST00000545014,;ARMC4,missense_variant,p.Gln699Arg,ENST00000305242,;ARMC4,missense_variant,p.Gln391Arg,ENST00000537576,;ARMC4,downstream_gene_variant,,ENST00000480504,;	2189	71	66	SUCCESS
TMPRSS13	84000	.	GRCh37	11	117789435	117789435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	65	0	ENST00000524993.1:c.140C>A	p.Ala47Asp	p.A47D	ENST00000524993	NM_001077263.2	47	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS41721.1	140	MUTECT|MUSE	.	TCCCAGCTGGA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037935	.	.	ENSP00000434279	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000524993	Transcript	.	.	ENSG00000137747	29808	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.082)	.	deleterious_low_confidence(0.02)	.	.	TMPRSS13	HGNC	Q1RMF8_HUMAN,E9PRA0_HUMAN	.	UPI0000E5923F	SNV	TMPRSS13,missense_variant,p.Ala47Asp,ENST00000526090,;TMPRSS13,missense_variant,p.Ala47Asp,ENST00000524993,;TMPRSS13,missense_variant,p.Ala47Asp,ENST00000430170,;TMPRSS13,missense_variant,p.Ala47Asp,ENST00000528626,;TMPRSS13,missense_variant,p.Ala47Asp,ENST00000445164,;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	198	65	88	SUCCESS
HSPA8	3312	.	GRCh37	11	122929825	122929825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	41	154	0	ENST00000227378.3:c.1265C>A	p.Thr422Asn	p.T422N	ENST00000227378		422	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS8440.1	1265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGTAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF156,Pfam_domain:PF00012,Gene3D:2.60.34.10,Superfamily_domains:SSF100920	.	.	ENSP00000432083	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000534624	Transcript	.	.	ENSG00000109971	5241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	deleterious_low_confidence(0.01)	.	HSP7C_HUMAN	HSPA8	HGNC	Q9NZ87_HUMAN,Q96IS6_HUMAN,Q96H53_HUMAN,Q96BE0_HUMAN,E9PS65_HUMAN,E9PQQ4_HUMAN,E9PQK7_HUMAN,E9PPY6_HUMAN,E9PN89_HUMAN,E9PN25_HUMAN,E9PM13_HUMAN,E9PLF4_HUMAN,E9PK54_HUMAN,A8K7Q2_HUMAN	.	UPI0000000801	SNV	HSPA8,missense_variant,p.Thr186Asn,ENST00000534319,;HSPA8,missense_variant,p.Thr403Asn,ENST00000526110,;HSPA8,missense_variant,p.Thr422Asn,ENST00000453788,;HSPA8,missense_variant,p.Thr13Asn,ENST00000524552,;HSPA8,missense_variant,p.Thr422Asn,ENST00000227378,;HSPA8,missense_variant,p.Thr422Asn,ENST00000532636,;HSPA8,missense_variant,p.Thr276Asn,ENST00000533540,;HSPA8,missense_variant,p.Thr422Asn,ENST00000534624,;HSPA8,downstream_gene_variant,,ENST00000525463,;HSPA8,downstream_gene_variant,,ENST00000525624,;HSPA8,downstream_gene_variant,,ENST00000528292,;HSPA8,downstream_gene_variant,,ENST00000532182,;HSPA8,downstream_gene_variant,,ENST00000534567,;HSPA8,downstream_gene_variant,,ENST00000530391,;HSPA8,downstream_gene_variant,,ENST00000527387,;HSPA8,downstream_gene_variant,,ENST00000524590,;HSPA8,upstream_gene_variant,,ENST00000526686,;SNORD14D,upstream_gene_variant,,ENST00000384390,;SNORD14E,upstream_gene_variant,,ENST00000364009,;SNORD14C,downstream_gene_variant,,ENST00000365382,;HSPA8,intron_variant,,ENST00000533238,;HSPA8,downstream_gene_variant,,ENST00000526862,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532091,;HSPA8,downstream_gene_variant,,ENST00000527983,;HSPA8,downstream_gene_variant,,ENST00000532780,;HSPA8,downstream_gene_variant,,ENST00000531063,;HSPA8,downstream_gene_variant,,ENST00000532167,;	1542	154	138	SUCCESS
NAV2	89797	.	GRCh37	11	20136228	20136228	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	65	0	ENST00000396087.3:c.7229del	p.Pro2410LeufsTer38	p.P2410Lfs*38	ENST00000396087	NM_001244963.1	2410	Cct/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS58126.1	7228	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTGGCCTCCC	NONE	.	.	hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	40/41	.	.	.	.	.	.	.	.	.	40/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	deletion	NAV2,frameshift_variant,p.Pro2287LeufsTer38,ENST00000360655,;NAV2,frameshift_variant,p.Pro1415LeufsTer38,ENST00000533917,;NAV2,frameshift_variant,p.Pro2339LeufsTer38,ENST00000527559,;NAV2,frameshift_variant,p.Pro2351LeufsTer38,ENST00000349880,;NAV2,frameshift_variant,p.Pro2410LeufsTer38,ENST00000396087,;NAV2,frameshift_variant,p.Pro2354LeufsTer38,ENST00000396085,;NAV2,frameshift_variant,p.Pro2341LeufsTer38,ENST00000540292,;NAV2,frameshift_variant,p.Pro1415LeufsTer38,ENST00000311043,;NAV2,non_coding_transcript_exon_variant,,ENST00000528923,;NAV2,non_coding_transcript_exon_variant,,ENST00000533746,;NAV2,downstream_gene_variant,,ENST00000525025,;	7327	65	98	SUCCESS
API5	8539	.	GRCh37	11	43333649	43333649	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs748201946	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	218	16	245	0	ENST00000531273.1:c.-29G>A		p.*10*	ENST00000531273				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44572.1	.	MUTECT|MUSE	.	ATAGCGGAACC	NONE	byFrequency	.	.	.	.	ENSP00000431391	.	1/14	.	.	.	.	.	.	.	.	rs748201946	1/14	PASS	ENST00000531273	Transcript	.	.	ENSG00000166181	594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	API5_HUMAN	API5	HGNC	.	.	UPI0000E229DE	SNV	API5,5_prime_UTR_variant,,ENST00000455725,;API5,5_prime_UTR_variant,,ENST00000534695,;API5,5_prime_UTR_variant,,ENST00000378852,;API5,5_prime_UTR_variant,,ENST00000420461,;API5,5_prime_UTR_variant,,ENST00000534600,;API5,5_prime_UTR_variant,,ENST00000531273,;API5,non_coding_transcript_exon_variant,,ENST00000530300,;	111	245	235	SUCCESS
OR5F1	338674	.	GRCh37	11	55761610	55761610	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	37	134	0	ENST00000278409.1:c.492C>A	p.Ser164Arg	p.S164R	ENST00000278409	NM_003697.1	164	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS31515.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGCTGAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF10,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000278409	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000278409	Transcript	.	.	ENSG00000149133	8343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.04)	.	OR5F1_HUMAN	OR5F1	HGNC	.	.	UPI0000041D19	SNV	OR5F1,missense_variant,p.Ser164Arg,ENST00000278409,;	492	134	140	SUCCESS
DCHS1	8642	.	GRCh37	11	6655082	6655082	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	60	0	ENST00000299441.3:c.2156G>T	p.Arg719Leu	p.R719L	ENST00000299441	NM_003737.2	719	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7771.1	2156	MUTECT|MUSE	.	AGAGTCGCCCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	4/21	.	.	.	.	.	.	.	.	COSM260367	4/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.056)	.	tolerated(0.23)	1	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Arg719Leu,ENST00000299441,;RP11-732A19.6,intron_variant,,ENST00000526633,;	2568	60	57	SUCCESS
IFLTD1	0	.	GRCh37	12	25679068	25679068	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	63	0	ENST00000282881.6:c.700G>C	p.Asp234His	p.D234H	ENST00000282881	NM_152590.3	234	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS44849.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATCAGGAC	NONE	.	.	Superfamily_domains:SSF74853,Gene3D:2.60.40.1260,Pfam_domain:PF00932,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF66	.	.	ENSP00000407353	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000458174	Transcript	.	.	ENSG00000152936	26683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0.04)	.	ILFT1_HUMAN	IFLTD1	HGNC	H0YFE3_HUMAN,F5H8G2_HUMAN,F5H719_HUMAN,F5H5I3_HUMAN,F5H3Q3_HUMAN	.	UPI0000E004B3	SNV	IFLTD1,missense_variant,p.Asp64His,ENST00000545543,;IFLTD1,missense_variant,p.Asp234His,ENST00000282881,;IFLTD1,missense_variant,p.Asp255His,ENST00000458174,;IFLTD1,missense_variant,p.Asp171His,ENST00000445693,;IFLTD1,missense_variant,p.Asp9His,ENST00000543629,;IFLTD1,missense_variant,p.Asp137His,ENST00000539744,;IFLTD1,intron_variant,,ENST00000413632,;IFLTD1,downstream_gene_variant,,ENST00000540106,;IFLTD1,downstream_gene_variant,,ENST00000538178,;	1008	63	90	SUCCESS
ANO6	196527	.	GRCh37	12	45814873	45814873	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746237936	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	31	140	0	ENST00000320560.8:c.2237C>T	p.Thr746Met	p.T746M	ENST00000320560	NM_001025356.2	746	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS55819.1	2300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCACGTCGG	NONE	byFrequency	.	hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000409126	.	19/21	.	.	.	.	.	.	.	.	rs746237936	19/21	PASS	ENST00000423947	Transcript	.	.	ENSG00000177119	25240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	ANO6_HUMAN	ANO6	HGNC	.	.	UPI000022935A	SNV	ANO6,missense_variant,p.Thr728Met,ENST00000441606,;ANO6,missense_variant,p.Thr746Met,ENST00000320560,;ANO6,missense_variant,p.Thr767Met,ENST00000423947,;ANO6,missense_variant,p.Thr746Met,ENST00000435642,;ANO6,missense_variant,p.Thr746Met,ENST00000425752,;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;	2537	140	135	SUCCESS
VWF	7450	.	GRCh37	12	6143958	6143958	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1185601519	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	92	1	ENST00000261405.5:c.2581C>T	p.His861Tyr	p.H861Y	ENST00000261405	NM_000552.3	861	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS8539.1	2581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATGGTCTG	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,PIRSF_domain:PIRSF002495,SMART_domains:SM00214,SMART_domains:SM00215,SMART_domains:SM00216	.	.	ENSP00000261405	.	20/52	.	.	.	.	.	.	.	.	.	20/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0.03)	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,missense_variant,p.His861Tyr,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;	2836	93	89	SUCCESS
RPL21	6144	.	GRCh37	13	27830355	27830355	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs776173053	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	29	181	0	ENST00000272274.4:c.277A>C	p.Ile93Leu	p.I93L	ENST00000272274		93	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS9320.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGTATTGAG	NONE	.	.	hmmpanther:PTHR20981,Pfam_domain:PF01157,Gene3D:1vq8Q00,Superfamily_domains:SSF50104	.	.	ENSP00000346027	.	5/6	.	.	.	.	.	.	.	.	rs776173053	5/6	PASS	ENST00000311549	Transcript	.	.	ENSG00000122026	10313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.05)	.	RL21_HUMAN	RPL21	HGNC	M0R181_HUMAN,Q6IAX2_HUMAN	.	UPI000013CACE	SNV	RPL21,missense_variant,p.Ile93Leu,ENST00000272274,;RPL21,missense_variant,p.Ile93Leu,ENST00000319826,;RPL21,missense_variant,p.Ile93Leu,ENST00000311549,;RPL21,missense_variant,p.Ile93Leu,ENST00000326092,;RPL21,missense_variant,p.Ile93Leu,ENST00000493317,;SNORA27,downstream_gene_variant,,ENST00000384323,;SNORD102,downstream_gene_variant,,ENST00000384769,;RPL21,3_prime_UTR_variant,,ENST00000461690,;RPL21,3_prime_UTR_variant,,ENST00000483765,;RPL21,non_coding_transcript_exon_variant,,ENST00000485756,;RPL21,downstream_gene_variant,,ENST00000473558,;RPL21,downstream_gene_variant,,ENST00000466550,;	566	181	154	SUCCESS
FOXO1	2308	.	GRCh37	13	41240285	41240285	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	33	0	ENST00000379561.5:c.65C>G	p.Ser22Trp	p.S22W	ENST00000379561	NM_002015.3	22	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS9371.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGAGCGC	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159	.	.	ENSP00000368880	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000379561	Transcript	.	.	ENSG00000150907	3819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FOXO1_HUMAN	FOXO1	HGNC	.	.	UPI000013DC20	SNV	FOXO1,missense_variant,p.Ser22Trp,ENST00000379561,;	450	33	25	SUCCESS
GPR18	2841	.	GRCh37	13	99907439	99907439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	131	1	ENST00000340807.3:c.688T>C	p.Ser230Pro	p.S230P	ENST00000340807		230	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS9491.1	688	MUTECT|MUSE	.	TATGGACTTCT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF1,hmmpanther:PTHR24232,PROSITE_profiles:PS50262	.	.	ENSP00000343428	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340807	Transcript	.	.	ENSG00000125245	4472	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.887)	.	tolerated(0.15)	.	GPR18_HUMAN	GPR18	HGNC	Q5JUH9_HUMAN,H9NIM1_HUMAN	.	UPI0000050424	SNV	GPR18,missense_variant,p.Ser230Pro,ENST00000340807,;GPR18,missense_variant,p.Ser230Pro,ENST00000397473,;GPR18,missense_variant,p.Ser230Pro,ENST00000397470,;UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;GPR18,downstream_gene_variant,,ENST00000416594,;UBAC2,intron_variant,,ENST00000473091,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000468067,;	1245	132	114	SUCCESS
RNASE6	6039	.	GRCh37	14	21250306	21250306	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	101	0	ENST00000304677.2:c.448C>G	p.Leu150Val	p.L150V	ENST00000304677	NM_005615.4	150	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS9558.1	448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATTCTCTAA	NONE	.	.	SMART_domains:SM00092,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF19	.	.	ENSP00000302046	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304677	Transcript	.	.	ENSG00000169413	10048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	RNAS6_HUMAN	RNASE6	HGNC	Q6IB39_HUMAN	.	UPI00001344D1	SNV	RNASE6,missense_variant,p.Leu150Val,ENST00000304677,;RP11-219E7.1,upstream_gene_variant,,ENST00000556624,;	741	101	101	SUCCESS
PAPLN	89932	.	GRCh37	14	73729359	73729404	+	frameshift_variant	Frame_Shift_Del	DEL	AAAGCCCTGGCCTTCTGGTGGTCTCTGGCGGCAAGACCAACAGCCT	AAAGCCCTGGCCTTCTGGTGGTCTCTGGCGGCAAGACCAACAGCCT	-	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	AAAGCCCTGGCCTTCTGGTGGTCTCTGGCGGCAAGACCAACAGCCT	AAAGCCCTGGCCTTCTGGTGGTCTCTGGCGGCAAGACCAACAGCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	111	21	132	0	ENST00000554301.1:c.2547_2592del	p.Lys850GlyfsTer99	p.K850Gfs*99	ENST00000554301		849	agAAAGCCCTGGCCTTCTGGTGGTCTCTGGCGGCAAGACCAACAGCCT/ag	0	.	.	.	.	.	-	RKPWPSGGLWRQDQQP/X	protein_coding	YES	CCDS32114.1	2466-2511	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGAGAAAGCCCTGGCCTTCTGGTGGTCTCTGGCGGCAAGACCAACAGCCTGGGCC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20	.	.	ENSP00000345395	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000340738	Transcript	.	.	ENSG00000100767	19262	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPN_HUMAN	PAPLN	HGNC	B3KXI1_HUMAN	.	UPI0000D6242C	deletion	PAPLN,frameshift_variant,p.Lys52GlyfsTer99,ENST00000559759,;PAPLN,frameshift_variant,p.Lys834GlyfsTer99,ENST00000555445,;PAPLN,frameshift_variant,p.Lys850GlyfsTer99,ENST00000381166,;PAPLN,frameshift_variant,p.Lys850GlyfsTer99,ENST00000427855,;PAPLN,frameshift_variant,p.Lys850GlyfsTer99,ENST00000554301,;PAPLN,frameshift_variant,p.Lys823GlyfsTer99,ENST00000340738,;PAPLN,non_coding_transcript_exon_variant,,ENST00000554314,;PAPLN,frameshift_variant,p.Lys148GlyfsTer422,ENST00000557061,;PAPLN,frameshift_variant,p.Lys823GlyfsTer100,ENST00000555123,;PAPLN,non_coding_transcript_exon_variant,,ENST00000555700,;PAPLN,intron_variant,,ENST00000216658,;	2568-2613	132	132	SUCCESS
MKRN3	7681	.	GRCh37	15	23811290	23811290	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761098122	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	10	76	0	ENST00000314520.3:c.361C>G	p.Leu121Val	p.L121V	ENST00000314520	NM_005664.3	121	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS10013.1	361	RADIA|MUTECT|MUSE|VARSCANS	.	ACGACCTTTCT	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38,Gene3D:1m9oA00,SMART_domains:SM00356	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	rs761098122	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.53)	.	deleterious(0.01)	.	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,missense_variant,p.Leu121Val,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,upstream_gene_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	837	76	99	SUCCESS
MYO5A	4644	.	GRCh37	15	52635319	52635319	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	11	64	0	ENST00000399231.3:c.4035C>T	p.Ala1345=	p.A1345=	ENST00000399231	NM_000259.3	1345	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42037.1	4035	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTGGCTTG	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000382177	.	31/41	.	.	.	.	.	.	.	.	.	31/41	PASS	ENST00000399231	Transcript	1	.	ENSG00000197535	7602	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO5A_HUMAN	MYO5A	HGNC	Q9UES4_HUMAN	.	UPI0000E445E1	SNV	MYO5A,synonymous_variant,p.%3D,ENST00000358212,;MYO5A,synonymous_variant,p.%3D,ENST00000399233,;MYO5A,synonymous_variant,p.%3D,ENST00000399228,;MYO5A,synonymous_variant,p.%3D,ENST00000399231,;MYO5A,synonymous_variant,p.%3D,ENST00000568914,;MYO5A,intron_variant,,ENST00000553916,;MYO5A,intron_variant,,ENST00000399229,;MYO5A,intron_variant,,ENST00000356338,;	4279	65	82	SUCCESS
WDR24	84219	.	GRCh37	16	739720	739720	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	20	0	ENST00000248142.6:c.185-78G>T		p.*62*	ENST00000248142				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10420.1	.	MUTECT|MUSE	.	CAGTTCAGACC	NONE	.	.	.	.	.	ENSP00000293883	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000293883	Transcript	.	.	ENSG00000127580	20852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR24_HUMAN	WDR24	HGNC	.	.	UPI0000037D32	SNV	WDR24,5_prime_UTR_variant,,ENST00000293883,;WDR24,intron_variant,,ENST00000248142,;FBXL16,downstream_gene_variant,,ENST00000324361,;FBXL16,downstream_gene_variant,,ENST00000397621,;FBXL16,downstream_gene_variant,,ENST00000562563,;LA16c-313D11.12,intron_variant,,ENST00000566927,;FBXL16,downstream_gene_variant,,ENST00000562585,;LA16c-313D11.12,non_coding_transcript_exon_variant,,ENST00000575305,;WDR24,upstream_gene_variant,,ENST00000567014,;FBXL16,downstream_gene_variant,,ENST00000562648,;	681	20	14	SUCCESS
USP10	9100	.	GRCh37	16	84778402	84778402	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	132	0	ENST00000219473.7:c.315T>C	p.Thr105=	p.T105=	ENST00000219473	NM_005153.2	105	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS45537.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACTAAAGA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF69	.	.	ENSP00000219473	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000219473	Transcript	.	.	ENSG00000103194	12608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP10_HUMAN	USP10	HGNC	Q6P2I0_HUMAN	.	UPI00001379EB	SNV	USP10,synonymous_variant,p.%3D,ENST00000570191,;USP10,synonymous_variant,p.%3D,ENST00000562283,;USP10,synonymous_variant,p.%3D,ENST00000219473,;USP10,intron_variant,,ENST00000570053,;USP10,intron_variant,,ENST00000569038,;USP10,intron_variant,,ENST00000563892,;USP10,non_coding_transcript_exon_variant,,ENST00000562743,;USP10,downstream_gene_variant,,ENST00000562092,;USP10,3_prime_UTR_variant,,ENST00000563386,;USP10,3_prime_UTR_variant,,ENST00000540269,;USP10,non_coding_transcript_exon_variant,,ENST00000563023,;USP10,intron_variant,,ENST00000563048,;USP10,downstream_gene_variant,,ENST00000566512,;	428	132	90	SUCCESS
CCT6B	10693	.	GRCh37	17	33267596	33267596	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	10	155	0	ENST00000314144.5:c.930A>C	p.Ile310=	p.I310=	ENST00000314144	NM_006584.3	310	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS32617.1	930	MUTECT|MUSE	.	GCTACTATTCC	NONE	.	.	hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF58,TIGRFAM_domain:TIGR02347,Gene3D:3.50.7.10,Pfam_domain:PF00118,Superfamily_domains:SSF52029	.	.	ENSP00000327191	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000314144	Transcript	.	.	ENSG00000132141	1621	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCPW_HUMAN	CCT6B	HGNC	J3KRI6_HUMAN	.	UPI000013F740	SNV	CCT6B,synonymous_variant,p.%3D,ENST00000314144,;CCT6B,synonymous_variant,p.%3D,ENST00000436961,;CCT6B,synonymous_variant,p.%3D,ENST00000421975,;CCT6B,downstream_gene_variant,,ENST00000585073,;CCT6B,non_coding_transcript_exon_variant,,ENST00000577307,;	1046	155	152	SUCCESS
C17orf66	0	.	GRCh37	17	34182344	34182344	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	90	0	ENST00000311880.2:c.1436T>C	p.Leu479Pro	p.L479P	ENST00000311880	NM_152781.2	479	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11299.1	1436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGAGAACC	NONE	.	.	.	.	.	ENSP00000309560	.	15/15	.	.	.	.	.	.	.	.	COSM472608	15/15	PASS	ENST00000311880	Transcript	.	.	ENSG00000172653	26548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.804)	.	deleterious(0)	1	CQ066_HUMAN	C17orf66	HGNC	.	.	UPI000013F215	SNV	C17orf66,missense_variant,p.Leu479Pro,ENST00000311880,;C17orf66,missense_variant,p.Leu439Pro,ENST00000592980,;TAF15,intron_variant,,ENST00000586593,;C17orf66,3_prime_UTR_variant,,ENST00000585840,;C17orf66,non_coding_transcript_exon_variant,,ENST00000462028,;C17orf66,downstream_gene_variant,,ENST00000589015,;C17orf66,downstream_gene_variant,,ENST00000587573,;	1585	90	91	SUCCESS
TNK1	8711	.	GRCh37	17	7290430	7290430	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1237929259	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	139	1	ENST00000576812.1:c.1369G>T	p.Gly457Cys	p.G457C	ENST00000576812	NM_001251902.1	457	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS58510.1	1369	MUTECT|MUSE	.	ACAGAGGCACC	NONE	.	.	hmmpanther:PTHR24418:SF187,hmmpanther:PTHR24418	.	.	ENSP00000459799	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000576812	Transcript	.	.	ENSG00000174292	11940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.606)	.	deleterious(0.01)	.	TNK1_HUMAN	TNK1	HGNC	.	.	UPI000013F1D0	SNV	TNK1,missense_variant,p.Gly457Cys,ENST00000576812,;TNK1,missense_variant,p.Gly452Cys,ENST00000311668,;TNK1,missense_variant,p.Gly452Cys,ENST00000570896,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000535512,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000576201,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000574401,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000571078,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000575434,;TNK1,upstream_gene_variant,,ENST00000576716,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000576362,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000324822,;TNK1,downstream_gene_variant,,ENST00000574794,;TNK1,downstream_gene_variant,,ENST00000576136,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000573070,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000571541,;TNK1,downstream_gene_variant,,ENST00000577009,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000571125,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000573331,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000575543,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000573774,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000570600,;TNK1,downstream_gene_variant,,ENST00000575268,;TNK1,downstream_gene_variant,,ENST00000576207,;	1738	140	83	SUCCESS
MGAT5B	146664	.	GRCh37	17	74936836	74936836	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199872537	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	64	0	ENST00000569840.2:c.1754C>T	p.Ala585Val	p.A585V	ENST00000569840	NM_001199172.1	585	gCg/gTg	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS45788.1	1781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGCGGAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024	T:0	.	ENSP00000391227	T:0.001	13/16	.	.	.	.	.	.	.	.	rs199872537	13/16	PASS	ENST00000428789	Transcript	.	T:0.0002	ENSG00000167889	24140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	T:0	deleterious(0.04)	.	MGT5B_HUMAN	MGAT5B	HGNC	.	.	UPI0000231C88	SNV	MGAT5B,missense_variant,p.Ala594Val,ENST00000428789,;MGAT5B,missense_variant,p.Ala585Val,ENST00000569840,;MGAT5B,missense_variant,p.Ala583Val,ENST00000301618,;MGAT5B,upstream_gene_variant,,ENST00000563153,;MGAT5B,3_prime_UTR_variant,,ENST00000565043,;	1884	64	64	SUCCESS
SOGA2	0	.	GRCh37	18	8796353	8796353	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369991737	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	6	140	0	ENST00000306329.11:c.3091C>T	p.Arg1031Trp	p.R1031W	ENST00000306329		1031	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS11841.1	2134	MUTECT|MUSE	.	AGCTCCGGTCC	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	T:0	ENSP00000352927	.	9/17	.	.	.	.	.	.	.	.	rs369991737	9/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,missense_variant,p.Arg27Trp,ENST00000518815,;SOGA2,missense_variant,p.Arg671Trp,ENST00000517570,;SOGA2,missense_variant,p.Arg671Trp,ENST00000400050,;SOGA2,missense_variant,p.Arg27Trp,ENST00000306285,;SOGA2,missense_variant,p.Arg1031Trp,ENST00000306329,;SOGA2,missense_variant,p.Arg712Trp,ENST00000359865,;SOGA2,upstream_gene_variant,,ENST00000522592,;SOGA2,3_prime_UTR_variant,,ENST00000520495,;	2276	140	129	SUCCESS
GADD45B	4616	.	GRCh37	19	2476227	2476227	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	33	0	ENST00000215631.4:c.-130G>T		p.*44*	ENST00000215631	NM_015675.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32868.1	.	MUTECT|MUSE	.	ATTTCGCTGCT	NONE	.	.	.	.	.	ENSP00000215631	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000215631	Transcript	.	.	ENSG00000099860	4096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GA45B_HUMAN	GADD45B	HGNC	Q6IX74_HUMAN	.	UPI000012AEF0	SNV	GADD45B,5_prime_UTR_variant,,ENST00000587345,;GADD45B,5_prime_UTR_variant,,ENST00000215631,;GADD45B,upstream_gene_variant,,ENST00000587887,;GADD45B,upstream_gene_variant,,ENST00000593043,;GADD45B,5_prime_UTR_variant,,ENST00000585359,;GADD45B,non_coding_transcript_exon_variant,,ENST00000592937,;GADD45B,non_coding_transcript_exon_variant,,ENST00000586759,;	103	33	28	SUCCESS
KMT2B	9757	.	GRCh37	19	36222961	36222961	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	66	0	ENST00000222270.7:c.5590C>T	p.Arg1864Ter	p.R1864*	ENST00000222270	NM_014727.1	1864	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46055.1	5590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCGAATC	BUFFER|p.R1866*|c.5596C>T|3	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	27/37	.	.	.	.	.	.	.	.	COSM995153	27/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,stop_gained,p.Arg1864Ter,ENST00000420124,;KMT2B,stop_gained,p.Arg1864Ter,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	5590	66	64	SUCCESS
TBCB	1155	.	GRCh37	19	36606362	36606362	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	64	0	ENST00000221855.3:c.-101G>C		p.*34*	ENST00000221855	NM_001281.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12488.1	.	MUTECT|MUSE	.	AGCAGGAGGCG	NONE	.	.	.	.	.	ENSP00000221855	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000221855	Transcript	.	.	ENSG00000105254	1989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBCB_HUMAN	TBCB	HGNC	Q6FGY5_HUMAN,K7EP07_HUMAN	.	UPI0000136A4B	SNV	TBCB,5_prime_UTR_variant,,ENST00000221855,;TBCB,upstream_gene_variant,,ENST00000589996,;OVOL3,downstream_gene_variant,,ENST00000586670,;OVOL3,downstream_gene_variant,,ENST00000585332,;TBCB,upstream_gene_variant,,ENST00000591296,;POLR2I,upstream_gene_variant,,ENST00000221859,;TBCB,upstream_gene_variant,,ENST00000586868,;TBCB,upstream_gene_variant,,ENST00000585746,;OVOL3,downstream_gene_variant,,ENST00000262637,;TBCB,upstream_gene_variant,,ENST00000588385,;TBCB,non_coding_transcript_exon_variant,,ENST00000593075,;TBCB,upstream_gene_variant,,ENST00000589308,;TBCB,upstream_gene_variant,,ENST00000392178,;POLR2I,upstream_gene_variant,,ENST00000586439,;TBCB,upstream_gene_variant,,ENST00000589624,;TBCB,upstream_gene_variant,,ENST00000481742,;POLR2I,upstream_gene_variant,,ENST00000589069,;POLR2I,upstream_gene_variant,,ENST00000586789,;POLR2I,upstream_gene_variant,,ENST00000585842,;POLR2I,upstream_gene_variant,,ENST00000592962,;POLR2I,upstream_gene_variant,,ENST00000589591,;	475	64	68	SUCCESS
FBXO17	115290	.	GRCh37	19	39435635	39435635	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	95	0	ENST00000292852.4:c.667C>T	p.Gln223Ter	p.Q223*	ENST00000292852	NM_024907.6	223	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	382	MUTECT|MUSE	.	CCACTGAAGGA	NONE	.	.	PROSITE_profiles:PS51114,Gene3D:2.60.120.260,Pfam_domain:PF04300,Superfamily_domains:SSF49785	.	.	ENSP00000472465	.	4/20	.	.	.	.	.	.	.	.	COSM3797053	4/20	PASS	ENST00000599996	Transcript	.	.	ENSG00000269547	.	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	CTC-360G5.8	Clone_based_vega_gene	M0R259_HUMAN,E7EX87_HUMAN	.	UPI0002A47101	SNV	SARS2,stop_gained,p.Gln58Ter,ENST00000448145,;CTC-360G5.8,stop_gained,p.Gln128Ter,ENST00000599996,;FBXO17,stop_gained,p.Gln223Ter,ENST00000292852,;FBXO17,stop_gained,p.Gln82Ter,ENST00000599598,;FBXO17,stop_gained,p.Gln223Ter,ENST00000595329,;FBXO17,3_prime_UTR_variant,,ENST00000601394,;FBXO17,3_prime_UTR_variant,,ENST00000596025,;FBXO17,non_coding_transcript_exon_variant,,ENST00000597696,;FBXO17,non_coding_transcript_exon_variant,,ENST00000599418,;	380	95	89	SUCCESS
PSG9	5678	.	GRCh37	19	43766112	43766112	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs139948336	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	83	0	ENST00000270077.3:c.609T>A	p.Tyr203Ter	p.Y203*	ENST00000270077	NM_002784.3	203	taT/taA	0	G:0	G:0	.	G:0	.	T	Y/*	protein_coding	YES	CCDS12618.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAGATAGAG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126,PROSITE_profiles:PS50835	G:0	G:0.001	ENSP00000270077	G:0.001	3/6	.	.	.	.	.	.	.	.	rs139948336	3/6	PASS	ENST00000270077	Transcript	.	G:0.0002	ENSG00000183668	9526	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PSG9_HUMAN	PSG9	HGNC	Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN	.	UPI00001327A5	SNV	PSG9,stop_gained,p.Tyr203Ter,ENST00000593948,;PSG9,stop_gained,p.Tyr203Ter,ENST00000244293,;PSG9,stop_gained,p.Tyr203Ter,ENST00000270077,;PSG9,intron_variant,,ENST00000443718,;PSG9,intron_variant,,ENST00000418820,;PSG9,intron_variant,,ENST00000596730,;PSG9,intron_variant,,ENST00000291752,;PSG9,upstream_gene_variant,,ENST00000595404,;	706	83	93	SUCCESS
IRGQ	126298	.	GRCh37	19	44096253	44096253	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	132	0	ENST00000422989.1:c.1797C>T	p.Gly599=	p.G599=	ENST00000422989	NM_001007561.2	599	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS33040.1	1797	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGCCGTG	NONE	.	.	hmmpanther:PTHR19364,hmmpanther:PTHR19364:SF2	.	.	ENSP00000387535	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422989	Transcript	.	.	ENSG00000167378	24868	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRGQ_HUMAN	IRGQ	HGNC	M0QZP8_HUMAN	.	UPI000003FDB6	SNV	IRGQ,synonymous_variant,p.%3D,ENST00000422989,;IRGQ,synonymous_variant,p.%3D,ENST00000602269,;L34079.2,intron_variant,,ENST00000594374,;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000528387,;SRRM5,upstream_gene_variant,,ENST00000607544,;ZNF576,upstream_gene_variant,,ENST00000391965,;ZNF576,upstream_gene_variant,,ENST00000336564,;SRRM5,upstream_gene_variant,,ENST00000526798,;ZNF576,upstream_gene_variant,,ENST00000529930,;IRGQ,downstream_gene_variant,,ENST00000598324,;ZNF576,upstream_gene_variant,,ENST00000533118,;IRGQ,intron_variant,,ENST00000601520,;IRGQ,upstream_gene_variant,,ENST00000596409,;ZNF576,upstream_gene_variant,,ENST00000595041,;	1953	132	84	SUCCESS
ZNF835	90485	.	GRCh37	19	57175395	57175395	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1247110613	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	59	0	ENST00000537055.2:c.1172G>A	p.Arg391Lys	p.R391K	ENST00000537055	NM_001005850.2	391	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS56105.1	1172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCTGTAG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.61)	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,missense_variant,p.Arg391Lys,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1404	59	45	SUCCESS
INSR	3643	.	GRCh37	19	7119538	7119538	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775027642	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	16	118	0	ENST00000302850.5:c.3716G>A	p.Gly1239Asp	p.G1239D	ENST00000302850	NM_000208.2	1239	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12176.1	3716	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCCTTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF140,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000620,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000303830	.	21/22	.	.	.	.	.	.	.	.	rs775027642	21/22	PASS	ENST00000302850	Transcript	1	.	ENSG00000171105	6091	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INSR_HUMAN	INSR	HGNC	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN	.	UPI000020324D	SNV	INSR,missense_variant,p.Gly1239Asp,ENST00000302850,;INSR,missense_variant,p.Gly1227Asp,ENST00000341500,;INSR,downstream_gene_variant,,ENST00000593970,;INSR,downstream_gene_variant,,ENST00000601099,;	3859	118	107	SUCCESS
CHIA	27159	.	GRCh37	1	111854972	111854972	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	14	88	0	ENST00000343320.6:c.216T>G	p.Asn72Lys	p.N72K	ENST00000343320		72	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS41368.1	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATGATGT	NONE	.	.	hmmpanther:PTHR11177:SF37,hmmpanther:PTHR11177,Gene3D:3.20.20.80,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF51445	.	.	ENSP00000358755	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000369740	Transcript	.	.	ENSG00000134216	17432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	deleterious(0.05)	.	CHIA_HUMAN	CHIA	HGNC	E9PLJ2_HUMAN	.	UPI00000727DC	SNV	CHIA,missense_variant,p.Asn72Lys,ENST00000369740,;CHIA,missense_variant,p.Asn72Lys,ENST00000343320,;CHIA,intron_variant,,ENST00000489524,;CHIA,intron_variant,,ENST00000430615,;CHIA,intron_variant,,ENST00000483391,;CHIA,intron_variant,,ENST00000353665,;CHIA,intron_variant,,ENST00000451398,;CHIA,intron_variant,,ENST00000422815,;CHIA,intron_variant,,ENST00000352594,;CHIA,intron_variant,,ENST00000477918,;	319	88	96	SUCCESS
ZNF687	57592	.	GRCh37	1	151258832	151258832	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	13	80	0	ENST00000324048.5:c.65A>G	p.Asp22Gly	p.D22G	ENST00000324048		22	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS992.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGATGCGA	NONE	.	.	hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402	.	.	ENSP00000319829	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,missense_variant,p.Asp31Gly,ENST00000443959,;ZNF687,missense_variant,p.Asp22Gly,ENST00000324048,;ZNF687,missense_variant,p.Asp22Gly,ENST00000368879,;ZNF687,missense_variant,p.Asp22Gly,ENST00000336715,;RP11-126K1.2,upstream_gene_variant,,ENST00000447795,;ZNF687,upstream_gene_variant,,ENST00000436614,;ZNF687,upstream_gene_variant,,ENST00000426871,;RP11-126K1.2,upstream_gene_variant,,ENST00000494138,;ZNF687,missense_variant,p.Asp22Gly,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	1035	80	81	SUCCESS
CD1B	910	.	GRCh37	1	158299379	158299379	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	6	144	0	ENST00000368168.3:c.667G>A	p.Val223Met	p.V223M	ENST00000368168	NM_001764.2	223	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS1176.1	667	MUTECT|MUSE	.	GCACACAAGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF130,hmmpanther:PTHR16675,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000357150	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,missense_variant,p.Val223Met,ENST00000368168,;CD1B,missense_variant,p.Val191Met,ENST00000451207,;	775	144	130	SUCCESS
SPTA1	6708	.	GRCh37	1	158585118	158585118	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766070401	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	13	102	0	ENST00000368147.4:c.6676G>A	p.Ala2226Thr	p.A2226T	ENST00000368147	NM_003126.2	2226	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41423.1	6676	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCGTCTT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	48/52	.	.	.	.	.	.	.	.	rs766070401,COSM1227445	48/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(1)	.	tolerated(0.46)	0,1	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Ala2226Thr,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000485680,;SPTA1,non_coding_transcript_exon_variant,,ENST00000492934,;SPTA1,non_coding_transcript_exon_variant,,ENST00000498708,;SPTA1,downstream_gene_variant,,ENST00000484520,;SPTA1,upstream_gene_variant,,ENST00000481212,;	6857	102	112	SUCCESS
SPTA1	6708	.	GRCh37	1	158646060	158646060	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	70	0	ENST00000368147.4:c.983A>G	p.Glu328Gly	p.E328G	ENST00000368147	NM_003126.2	328	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41423.1	983	MUTECT|MUSE	.	GCTTCTCTGCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.217)	.	tolerated(0.07)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu328Gly,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000467387,;	1164	70	76	SUCCESS
ATP1A4	480	.	GRCh37	1	160128807	160128807	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	43	121	0	ENST00000368081.4:c.541C>A	p.Arg181=	p.R181=	ENST00000368081	NM_144699.3	181	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1197.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTCGAGGA	NONE	.	.	hmmpanther:PTHR24093:SF233,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Superfamily_domains:0049471	.	.	ENSP00000357060	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,synonymous_variant,p.%3D,ENST00000368081,;ATP1A4,synonymous_variant,p.%3D,ENST00000477338,;	1012	121	116	SUCCESS
EPHA2	1969	.	GRCh37	1	16464471	16464471	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	70	0	ENST00000358432.5:c.1189G>A	p.Val397Met	p.V397M	ENST00000358432	NM_004431.3	397	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS169.1	1189	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCACACTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF306,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000351209	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000358432	Transcript	.	.	ENSG00000142627	3386	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.822)	.	deleterious(0.01)	.	EPHA2_HUMAN	EPHA2	HGNC	Q96HF4_HUMAN,Q8IZL0_HUMAN	.	UPI00000731AB	SNV	EPHA2,missense_variant,p.Val397Met,ENST00000358432,;EPHA2,non_coding_transcript_exon_variant,,ENST00000480202,;EPHA2,upstream_gene_variant,,ENST00000462805,;	1344	70	46	SUCCESS
ILDR2	387597	.	GRCh37	1	166896403	166896403	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149710395	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	67	0	ENST00000271417.3:c.895C>T	p.Arg299Trp	p.R299W	ENST00000271417	NM_199351.2	299	Cgg/Tgg	0	A:0.0002	.	.	.	.	A	R/W	protein_coding	YES	CCDS1256.1	895	MUTECT|MUSE	.	GATCCGGTAAC	NONE	byCluster	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0	.	A:0	ENSP00000271417	.	7/10	.	.	.	.	.	.	.	.	rs149710395	7/10	PASS	ENST00000271417	Transcript	.	.	ENSG00000143195	18131	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ILDR2_HUMAN	ILDR2	HGNC	.	.	UPI00002317DF	SNV	ILDR2,missense_variant,p.Arg191Trp,ENST00000526687,;ILDR2,missense_variant,p.Arg299Trp,ENST00000271417,;ILDR2,missense_variant,p.Arg299Trp,ENST00000469934,;ILDR2,missense_variant,p.Arg172Trp,ENST00000525740,;ILDR2,missense_variant,p.Arg280Trp,ENST00000529071,;ILDR2,missense_variant,p.Arg240Trp,ENST00000528703,;ILDR2,intron_variant,,ENST00000529387,;	951	67	62	SUCCESS
CCDC181	57821	.	GRCh37	1	169391306	169391306	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	8	96	0	ENST00000367806.3:c.363G>C	p.Glu121Asp	p.E121D	ENST00000367806	NM_021179.1	121	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS1279.1	363	MUTECT|MUSE	.	ACTTCCTCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14320:SF1,hmmpanther:PTHR14320	.	.	ENSP00000442297	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000545005	Transcript	.	.	ENSG00000117477	28051	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.333)	.	deleterious(0.02)	.	CC181_HUMAN	CCDC181	HGNC	.	.	UPI000007129B	SNV	CCDC181,missense_variant,p.Glu121Asp,ENST00000367806,;CCDC181,missense_variant,p.Glu121Asp,ENST00000545005,;CCDC181,missense_variant,p.Glu121Asp,ENST00000456107,;CCDC181,missense_variant,p.Glu121Asp,ENST00000367805,;CCDC181,non_coding_transcript_exon_variant,,ENST00000491570,;	871	96	93	SUCCESS
NR5A2	2494	.	GRCh37	1	200008803	200008803	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs537463980	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	48	157	0	ENST00000367362.3:c.82C>T	p.Arg28Ter	p.R28*	ENST00000367362	NM_205860.2	28	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS1401.1	82	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACCGACAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24086:SF18,hmmpanther:PTHR24086,PIRSF_domain:PIRSF002530	.	.	ENSP00000356331	.	2/8	.	.	.	.	.	.	.	.	rs537463980	2/8	PASS	ENST00000367362	Transcript	.	.	ENSG00000116833	7984	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR5A2_HUMAN	NR5A2	HGNC	Q8WY08_HUMAN,B4E2P3_HUMAN	.	UPI0000130482	SNV	NR5A2,stop_gained,p.Arg41Ter,ENST00000447034,;NR5A2,stop_gained,p.Arg28Ter,ENST00000367362,;NR5A2,intron_variant,,ENST00000236914,;NR5A2,upstream_gene_variant,,ENST00000544748,;NR5A2,upstream_gene_variant,,ENST00000367357,;NR5A2,intron_variant,,ENST00000474307,;	328	157	178	SUCCESS
USH2A	7399	.	GRCh37	1	215848027	215848027	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752003063	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	58	0	ENST00000307340.3:c.13226C>T	p.Ser4409Phe	p.S4409F	ENST00000307340	NM_206933.2	4409	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS31025.1	13226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGAAACC	SITE|p.S4409F|c.13226C>T|3	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	63/72	.	.	.	.	.	.	.	.	rs752003063,COSM1689836,COSM3483393	63/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.949)	.	.	0,1,1	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Ser4409Phe,ENST00000366943,;USH2A,missense_variant,p.Ser4409Phe,ENST00000307340,;	13613	58	89	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227222368	227222369	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	51	0	ENST00000334218.5:c.3358dup	p.Val1120GlyfsTer3	p.V1120Gfs*3	ENST00000334218		1120	gtg/gGtg	0	.	.	.	.	.	C	V/GX	protein_coding	YES	CCDS1558.1	3358-3359	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATCACTTGA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000355731	.	25/36	.	.	.	.	.	.	.	.	.	25/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	insertion	CDC42BPA,frameshift_variant,p.Val345GlyfsTer3,ENST00000441725,;CDC42BPA,frameshift_variant,p.Val1039GlyfsTer3,ENST00000366767,;CDC42BPA,frameshift_variant,p.Val18GlyfsTer3,ENST00000429440,;CDC42BPA,frameshift_variant,p.Val449GlyfsTer3,ENST00000442054,;CDC42BPA,frameshift_variant,p.Val1120GlyfsTer3,ENST00000366769,;CDC42BPA,frameshift_variant,p.Val1133GlyfsTer3,ENST00000366765,;CDC42BPA,frameshift_variant,p.Val323GlyfsTer3,ENST00000448940,;CDC42BPA,frameshift_variant,p.Val1120GlyfsTer3,ENST00000334218,;CDC42BPA,frameshift_variant,p.Val1092GlyfsTer3,ENST00000366764,;CDC42BPA,frameshift_variant,p.Val1155GlyfsTer3,ENST00000366766,;CDC42BPA,frameshift_variant,p.Val1100GlyfsTer3,ENST00000535525,;	4650-4651	51	68	SUCCESS
INADL	0	.	GRCh37	1	62232108	62232108	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	75	0	ENST00000371158.2:c.347A>G	p.Asn116Ser	p.N116S	ENST00000371158	NM_176877.2	116	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS617.2	347	RADIA|MUTECT|MUSE	.	GGGAAATGAAG	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964	.	.	ENSP00000360200	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.67)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Asn116Ser,ENST00000316485,;INADL,missense_variant,p.Asn116Ser,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	461	75	68	SUCCESS
LHX8	431707	.	GRCh37	1	75596462	75596462	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	9	111	0	ENST00000294638.5:c.18+45T>C		p.*6*	ENST00000294638	NM_001001933.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30756.1	.	MUTECT|MUSE|VARSCANS	.	AGTCTTTTTCC	NONE	.	.	.	.	.	ENSP00000294638	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,intron_variant,,ENST00000294638,;LHX8,upstream_gene_variant,,ENST00000356261,;RP11-510C10.3,non_coding_transcript_exon_variant,,ENST00000427892,;RP11-510C10.2,intron_variant,,ENST00000446238,;	.	111	93	SUCCESS
NAA20	51126	.	GRCh37	20	19998679	19998679	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	56	0	ENST00000334982.4:c.53+586A>G		p.*18*	ENST00000334982	NM_016100.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13141.1	.	MUTECT|MUSE	.	GTCTCAGTCAT	NONE	.	.	.	.	.	ENSP00000335636	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334982	Transcript	.	.	ENSG00000173418	15908	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAA20_HUMAN	NAA20	HGNC	.	.	UPI0000029838	SNV	NAA20,missense_variant,p.Gln4Arg,ENST00000398602,;NAA20,intron_variant,,ENST00000334982,;NAA20,intron_variant,,ENST00000310450,;NAA20,intron_variant,,ENST00000480550,;NAA20,intron_variant,,ENST00000463154,;NAA20,intron_variant,,ENST00000484480,;NAA20,non_coding_transcript_exon_variant,,ENST00000481837,;	.	56	65	SUCCESS
TTLL9	164395	.	GRCh37	20	30510825	30510825	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	6	75	0	ENST00000375938.4:c.633G>A	p.Gln211=	p.Q211=	ENST00000375938		211	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS42863.1	633	MUTECT|MUSE	.	GCTCAGCGTTA	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF39,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000365105	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000375938	Transcript	.	.	ENSG00000131044	16118	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTLL9_HUMAN	TTLL9	HGNC	.	.	UPI00001998D0	SNV	TTLL9,synonymous_variant,p.%3D,ENST00000375938,;TTLL9,synonymous_variant,p.%3D,ENST00000375922,;TTLL9,synonymous_variant,p.%3D,ENST00000375934,;TTLL9,synonymous_variant,p.%3D,ENST00000375921,;TTLL9,synonymous_variant,p.%3D,ENST00000310998,;TTLL9,synonymous_variant,p.%3D,ENST00000535842,;	886	75	95	SUCCESS
DOK5	55816	.	GRCh37	20	53260003	53260003	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1451527471	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	35	0	ENST00000262593.5:c.742A>G	p.Met248Val	p.M248V	ENST00000262593	NM_018431.3	248	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS13446.1	742	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGATGAAG	NONE	.	.	hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF45	.	.	ENSP00000262593	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000262593	Transcript	.	.	ENSG00000101134	16173	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.67)	.	DOK5_HUMAN	DOK5	HGNC	.	.	UPI00001296AB	SNV	DOK5,missense_variant,p.Met140Val,ENST00000395939,;DOK5,missense_variant,p.Met248Val,ENST00000262593,;	1092	35	35	SUCCESS
EDN3	1908	.	GRCh37	20	57876550	57876550	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	100	0	ENST00000337938.2:c.138T>C	p.Cys46=	p.C46=	ENST00000337938	NM_207034.1	46	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS13477.1	138	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTGAAGA	NONE	.	.	hmmpanther:PTHR13874:SF6,hmmpanther:PTHR13874	.	.	ENSP00000337128	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000337938	Transcript	1	.	ENSG00000124205	3178	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EDN3_HUMAN	EDN3	HGNC	Q6LDQ8_HUMAN	.	UPI000012A221	SNV	EDN3,synonymous_variant,p.%3D,ENST00000371028,;EDN3,synonymous_variant,p.%3D,ENST00000337938,;EDN3,synonymous_variant,p.%3D,ENST00000311585,;EDN3,synonymous_variant,p.%3D,ENST00000395654,;EDN3,synonymous_variant,p.%3D,ENST00000371025,;	524	100	103	SUCCESS
TOP3B	8940	.	GRCh37	22	22314746	22314746	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752975410	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	67	0	ENST00000357179.5:c.1601G>A	p.Arg534Gln	p.R534Q	ENST00000357179	NM_001282113.1	534	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13797.1	1601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCCGGCGC	NONE	.	.	Superfamily_domains:SSF56712,SMART_domains:SM00437,Pfam_domain:PF01131,Gene3D:1.10.460.10,hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF20	.	.	ENSP00000381773	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000398793	Transcript	.	.	ENSG00000100038	11993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.327)	.	deleterious(0.03)	.	TOP3B_HUMAN	TOP3B	HGNC	C9JTQ7_HUMAN,C9JT00_HUMAN,C9JKE2_HUMAN,C9JHR0_HUMAN,C9JEQ1_HUMAN,C9JEI7_HUMAN,C9J9X4_HUMAN	.	UPI00001371A1	SNV	TOP3B,missense_variant,p.Arg329Gln,ENST00000457270,;TOP3B,missense_variant,p.Arg534Gln,ENST00000357179,;TOP3B,missense_variant,p.Arg534Gln,ENST00000398793,;TOP3B,3_prime_UTR_variant,,ENST00000413067,;TOP3B,3_prime_UTR_variant,,ENST00000436282,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,downstream_gene_variant,,ENST00000470338,;	2036	67	65	SUCCESS
PIK3IP1	113791	.	GRCh37	22	31685037	31685037	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	18	0	ENST00000215912.5:c.587+264A>G		p.*196*	ENST00000215912	NM_052880.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13893.1	.	MUTECT|MUSE	.	CTATGTGACTT	NONE	.	.	.	.	.	ENSP00000215912	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000215912	Transcript	.	.	ENSG00000100100	24942	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P3IP1_HUMAN	PIK3IP1	HGNC	.	.	UPI000003F53C	SNV	PIK3IP1,3_prime_UTR_variant,,ENST00000402249,;PIK3IP1,intron_variant,,ENST00000487265,;PIK3IP1,intron_variant,,ENST00000215912,;PIK3IP1,intron_variant,,ENST00000441972,;PIK3IP1,downstream_gene_variant,,ENST00000443175,;RP3-400N23.6,upstream_gene_variant,,ENST00000440456,;PIK3IP1,intron_variant,,ENST00000493034,;PIK3IP1,intron_variant,,ENST00000480654,;	.	18	17	SUCCESS
SH3BP1	23616	.	GRCh37	22	38038931	38038931	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	63	0	ENST00000357436.4:c.314A>G	p.Gln105Arg	p.Q105R	ENST00000357436	NM_018957.3	105	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13952.2	314	MUTECT|MUSE	.	CATCCAGAATC	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR14130:SF12,hmmpanther:PTHR14130,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000350018	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000357436	Transcript	.	.	ENSG00000100092	10824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	3BP1_HUMAN	SH3BP1	HGNC	F8WEQ3_HUMAN	.	UPI000004EE00	SNV	SH3BP1,missense_variant,p.Gln105Arg,ENST00000336738,;SH3BP1,missense_variant,p.Gln41Arg,ENST00000599616,;SH3BP1,missense_variant,p.Gln105Arg,ENST00000442465,;SH3BP1,missense_variant,p.Gln105Arg,ENST00000357436,;Z83844.1,non_coding_transcript_exon_variant,,ENST00000456099,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000495174,;SH3BP1,missense_variant,p.Gln105Arg,ENST00000417536,;SH3BP1,3_prime_UTR_variant,,ENST00000451997,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000469947,;SH3BP1,upstream_gene_variant,,ENST00000459646,;SH3BP1,upstream_gene_variant,,ENST00000471650,;SH3BP1,upstream_gene_variant,,ENST00000466097,;	627	63	57	SUCCESS
LGALS1	3956	.	GRCh37	22	38073068	38073068	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	56	0	ENST00000215909.5:c.85A>G	p.Lys29Glu	p.K29E	ENST00000215909	NM_002305.3	29	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS13954.1	85	MUTECT|MUSE	.	ACGCTAAGAGG	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF30,Pfam_domain:PF00337,Gene3D:2.60.120.200,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000215909	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000215909	Transcript	.	.	ENSG00000100097	6561	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.468)	.	tolerated(0.06)	.	LEG1_HUMAN	LGALS1	HGNC	.	.	UPI000004E612	SNV	LGALS1,missense_variant,p.Lys29Glu,ENST00000215909,;LGALS1,non_coding_transcript_exon_variant,,ENST00000489315,;LGALS1,non_coding_transcript_exon_variant,,ENST00000480207,;NOL12,upstream_gene_variant,,ENST00000493862,;LGALS1,missense_variant,p.Lys29Glu,ENST00000454173,;LGALS1,3_prime_UTR_variant,,ENST00000425542,;LGALS1,non_coding_transcript_exon_variant,,ENST00000464120,;LGALS1,non_coding_transcript_exon_variant,,ENST00000472321,;	180	56	59	SUCCESS
TCF20	6942	.	GRCh37	22	42610966	42610966	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	85	0	ENST00000359486.3:c.346C>T	p.Gln116Ter	p.Q116*	ENST00000359486	NM_005650.2	116	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14033.1	346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,stop_gained,p.Gln116Ter,ENST00000335626,;TCF20,stop_gained,p.Gln116Ter,ENST00000359486,;TCF20,stop_gained,p.Gln116Ter,ENST00000515426,;TCF20,upstream_gene_variant,,ENST00000404876,;	483	85	91	SUCCESS
TCF20	6942	.	GRCh37	22	42610967	42610967	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	85	0	ENST00000359486.3:c.345G>T	p.Val115=	p.V115=	ENST00000359486	NM_005650.2	115	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14033.1	345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCACAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,synonymous_variant,p.%3D,ENST00000335626,;TCF20,synonymous_variant,p.%3D,ENST00000359486,;TCF20,synonymous_variant,p.%3D,ENST00000515426,;TCF20,upstream_gene_variant,,ENST00000404876,;	482	85	92	SUCCESS
TRIB2	28951	.	GRCh37	2	12858376	12858376	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	45	0	ENST00000155926.4:c.-58C>G		p.*20*	ENST00000155926	NM_021643.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1683.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCGCCAGCGA	NONE	.	.	.	.	.	ENSP00000155926	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000155926	Transcript	.	.	ENSG00000071575	30809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRIB2_HUMAN	TRIB2	HGNC	F8WA18_HUMAN	.	UPI0000051C55	SNV	TRIB2,5_prime_UTR_variant,,ENST00000405331,;TRIB2,5_prime_UTR_variant,,ENST00000155926,;TRIB2,intron_variant,,ENST00000381465,;RP11-333O1.1,downstream_gene_variant,,ENST00000569860,;TRIB2,downstream_gene_variant,,ENST00000483034,;	1362	45	55	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098806	178098806	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	56	0	ENST00000397062.3:c.239C>T	p.Thr80Ile	p.T80I	ENST00000397062	NM_006164.4	80	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS42782.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGTCTCT	CODON|p.T80R|c.239C>G|3,CODON|p.T80K|c.239C>A|5,BUFFER|p.E82D|c.246A>C|3,BUFFER|p.E82D|c.246A>T|6,BUFFER|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81D|c.242G>A|6,BUFFER|p.G81V|c.242G>T|7,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11,BUFFER|p.D77V|c.230A>T|5,BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132964,COSM132861,COSM132857	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Thr64Ile,ENST00000449627,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000423513,;NFE2L2,missense_variant,p.Thr80Ile,ENST00000397062,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000446151,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000588123,;NFE2L2,missense_variant,p.Thr79Ile,ENST00000586532,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000421929,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000464747,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000448782,;NFE2L2,missense_variant,p.Thr64Ile,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	794	56	74	SUCCESS
TTN	7273	.	GRCh37	2	179436587	179436587	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	36	123	0	ENST00000591111.1:c.69349C>T	p.Gln23117Ter	p.Q23117*	ENST00000591111		23117	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS59435.1	74272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGCTTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Gln15818Ter,ENST00000359218,;TTN,stop_gained,p.Gln23117Ter,ENST00000591111,;TTN,stop_gained,p.Gln24758Ter,ENST00000589042,;TTN,stop_gained,p.Gln15885Ter,ENST00000342175,;TTN,stop_gained,p.Gln22190Ter,ENST00000342992,;TTN,stop_gained,p.Gln15693Ter,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	74497	123	114	SUCCESS
PAX3	5077	.	GRCh37	2	223086027	223086027	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	23	129	0	ENST00000350526.4:c.872C>A	p.Pro291His	p.P291H	ENST00000350526	NM_181457.3	291	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS2448.1	872	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGGAATG	NONE	.	.	hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329	.	.	ENSP00000375921	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,missense_variant,p.Pro291His,ENST00000392070,;PAX3,missense_variant,p.Pro291His,ENST00000336840,;PAX3,missense_variant,p.Pro291His,ENST00000392069,;PAX3,missense_variant,p.Pro291His,ENST00000344493,;PAX3,missense_variant,p.Pro290His,ENST00000409551,;PAX3,missense_variant,p.Pro291His,ENST00000350526,;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,non_coding_transcript_exon_variant,,ENST00000555548,;	1238	129	143	SUCCESS
ATG16L1	55054	.	GRCh37	2	234173607	234173607	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	15	127	0	ENST00000392017.4:c.459T>C	p.Cys153=	p.C153=	ENST00000392017	NM_001190266.1	153	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS2503.2	459	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTGACCT	NONE	.	.	hmmpanther:PTHR19878,hmmpanther:PTHR19878:SF3,Pfam_domain:PF08614	.	.	ENSP00000375872	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000392017	Transcript	.	.	ENSG00000085978	21498	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	A16L1_HUMAN	ATG16L1	HGNC	Q53SV2_HUMAN,Q17RG0_HUMAN,F8WAF9_HUMAN,D9N2U2_HUMAN,C9J8C6_HUMAN	.	UPI0000208D0D	SNV	ATG16L1,synonymous_variant,p.%3D,ENST00000392017,;ATG16L1,synonymous_variant,p.%3D,ENST00000392020,;ATG16L1,synonymous_variant,p.%3D,ENST00000392018,;ATG16L1,intron_variant,,ENST00000373525,;ATG16L1,intron_variant,,ENST00000444735,;ATG16L1,intron_variant,,ENST00000347464,;ATG16L1,intron_variant,,ENST00000419681,;ATG16L1,intron_variant,,ENST00000417017,;ATG16L1,downstream_gene_variant,,ENST00000431917,;ATG16L1,upstream_gene_variant,,ENST00000498620,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;ATG16L1,downstream_gene_variant,,ENST00000485623,;	716	127	116	SUCCESS
SNED1	25992	.	GRCh37	2	241979571	241979571	+	synonymous_variant	Silent	SNP	C	C	T	rs1173949099	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	56	1	ENST00000310397.8:c.1125C>T	p.Cys375=	p.C375=	ENST00000310397	NM_001080437.1	375	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS46562.1	1125	MUTECT|MUSE	.	GTGTGCCAGGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,Pfam_domain:PF12661,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000308893	.	7/32	.	.	.	.	.	.	.	.	COSM1018795	7/32	PASS	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,synonymous_variant,p.%3D,ENST00000420591,;SNED1,synonymous_variant,p.%3D,ENST00000401644,;SNED1,synonymous_variant,p.%3D,ENST00000342631,;SNED1,synonymous_variant,p.%3D,ENST00000401884,;SNED1,synonymous_variant,p.%3D,ENST00000405547,;SNED1,synonymous_variant,p.%3D,ENST00000310397,;SNED1,synonymous_variant,p.%3D,ENST00000431690,;AC005237.4,intron_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000493358,;	1125	57	62	SUCCESS
BIRC6	57448	.	GRCh37	2	32750591	32750591	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs553403645	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	8	145	0	ENST00000421745.2:c.11816G>A	p.Arg3939Lys	p.R3939K	ENST00000421745	NM_016252.3	3939	aGg/aAg	0	.	T:0	.	T:0	.	A	R/K	protein_coding	YES	CCDS33175.2	11816	MUTECT|MUSE	.	CAGGAGGGGGA	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	T:0	.	ENSP00000393596	T:0	59/74	.	.	.	.	.	.	.	.	rs553403645	59/74	PASS	ENST00000421745	Transcript	.	T:0.0002	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	T:0.001	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Arg3939Lys,ENST00000421745,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;	11950	145	157	SUCCESS
IGKV3-7	28915	.	GRCh37	2	89278144	89278144	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369766180	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	47	196	0	ENST00000390247.2:c.191C>T	p.Ala64Val	p.A64V	ENST00000390247		64	gCg/gTg	0	A:0	A:0	.	A:0.0014	.	A	A/V	IG_V_gene	YES	.	191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGCCTGG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,PROSITE_profiles:PS50835	A:0	A:0.0001	ENSP00000374782	A:0	2/2	.	.	.	.	.	.	.	.	rs369766180	2/2	PASS	ENST00000390247	Transcript	.	A:0.0004	ENSG00000243063	5821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	A:0.001	tolerated(0.07)	.	.	IGKV3-7	HGNC	.	.	UPI000173A596	SNV	IGKV3-7,missense_variant,p.Ala64Val,ENST00000390247,;	288	196	163	SUCCESS
FER1L5	90342	.	GRCh37	2	97357320	97357320	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs939522468	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	19	173	0	ENST00000414152.1:n.3025G>A		p.*1009*	ENST00000414152				0	.	.	.	.	.	A	.	retained_intron	.	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCATCGCGCCC	NONE	.	.	.	.	.	.	.	12/35	.	.	.	.	.	.	.	.	COSM1410079	12/35	PASS	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;FER1L5,upstream_gene_variant,,ENST00000397978,;	1505	173	155	SUCCESS
CNBP	7555	.	GRCh37	3	128889414	128889414	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	12	110	0	ENST00000422453.2:c.417-1G>A		p.X139_splice	ENST00000422453	NM_003418.4	139		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46906.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACACCTAAAA	NONE	.	.	.	.	.	ENSP00000410769	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441626	Transcript	.	.	ENSG00000169714	13164	.	.	HIGH	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNBP_HUMAN	CNBP	HGNC	Q6T598_HUMAN	.	UPI0000496743	SNV	CNBP,splice_acceptor_variant,,ENST00000502976,;CNBP,splice_acceptor_variant,,ENST00000441626,;CNBP,splice_acceptor_variant,,ENST00000451728,;CNBP,splice_acceptor_variant,,ENST00000446936,;CNBP,splice_acceptor_variant,,ENST00000500450,;CNBP,splice_acceptor_variant,,ENST00000422453,;CNBP,splice_acceptor_variant,,ENST00000504813,;CNBP,downstream_gene_variant,,ENST00000512338,;CNBP,splice_acceptor_variant,,ENST00000502372,;CNBP,downstream_gene_variant,,ENST00000507573,;	.	110	100	SUCCESS
NPHP3	27031	.	GRCh37	3	132419256	132419256	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	52	0	ENST00000337331.5:c.1665G>T	p.Leu555=	p.L555=	ENST00000337331	NM_153240.4	555	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3078.1	1665	MUTECT|MUSE	.	AGAATCAGTGT	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF05729,Gene3D:3.40.50.300,hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959	.	.	ENSP00000338766	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000337331	Transcript	.	.	ENSG00000113971	7907	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPHP3_HUMAN	NPHP3	HGNC	.	.	UPI00001B6B30	SNV	NPHP3,synonymous_variant,p.%3D,ENST00000326682,;NPHP3,synonymous_variant,p.%3D,ENST00000337331,;NPHP3,synonymous_variant,p.%3D,ENST00000471702,;NPHP3,synonymous_variant,p.%3D,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000469232,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;	1752	52	49	SUCCESS
C3orf79	0	.	GRCh37	3	153220256	153220256	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	11	76	0	ENST00000446603.2:c.288T>C	p.Asp96=	p.D96=	ENST00000446603	NM_001101337.1	96	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS46937.1	288	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATGCCAG	NONE	.	.	.	.	.	ENSP00000389475	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000446603	Transcript	.	.	ENSG00000237787	37259	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC079_HUMAN	C3orf79	HGNC	.	.	UPI00001410DF	SNV	C3orf79,synonymous_variant,p.%3D,ENST00000446603,;RP11-23D24.2,intron_variant,,ENST00000493214,;	350	76	92	SUCCESS
ACAP2	23527	.	GRCh37	3	195029516	195029516	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	7	107	0	ENST00000326793.6:c.908A>T	p.Lys303Met	p.K303M	ENST00000326793	NM_012287.5	303	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS33924.1	908	MUTECT|MUSE|VARSCANS	.	CTACCTTAAAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000324287	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.858)	.	deleterious(0.01)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.Lys178Met,ENST00000439758,;ACAP2,missense_variant,p.Lys303Met,ENST00000326793,;ACAP2,upstream_gene_variant,,ENST00000484296,;	1139	107	86	SUCCESS
CHL1	10752	.	GRCh37	3	439917	439917	+	synonymous_variant	Silent	SNP	T	T	A	rs781627645	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	8	97	1	ENST00000397491.2:c.3054T>A	p.Gly1018=	p.G1018=	ENST00000397491		1018	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2556.1	3102	MUTECT|MUSE	.	AAAGGTATCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	.	.	ENSP00000256509	.	25/28	.	.	.	.	.	.	.	.	rs781627645	25/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,synonymous_variant,p.%3D,ENST00000397491,;CHL1,synonymous_variant,p.%3D,ENST00000256509,;CHL1,intron_variant,,ENST00000445697,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	3744	98	116	SUCCESS
TOPAZ1	375337	.	GRCh37	3	44362676	44362676	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	91	0	ENST00000309765.4:c.4464T>C	p.Asn1488=	p.N1488=	ENST00000309765	NM_001145030.1	1488	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS46809.1	4464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAATTCCCA	NONE	.	.	.	.	.	ENSP00000310303	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000309765	Transcript	.	.	ENSG00000173769	24746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOPZ1_HUMAN	TOPAZ1	HGNC	.	.	UPI000047FF75	SNV	TOPAZ1,synonymous_variant,p.%3D,ENST00000309765,;	4632	91	83	SUCCESS
USP19	10869	.	GRCh37	3	49152738	49152738	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	101	0	ENST00000398888.2:c.1636C>A	p.Leu546Met	p.L546M	ENST00000398888	NM_006677.2	546	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS56254.1	1939	MUTECT|MUSE	.	GGCCAGACGCC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000401197	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Leu649Met,ENST00000417901,;USP19,missense_variant,p.Leu586Met,ENST00000398892,;USP19,missense_variant,p.Leu586Met,ENST00000398898,;USP19,missense_variant,p.Leu637Met,ENST00000453664,;USP19,missense_variant,p.Leu647Met,ENST00000434032,;USP19,missense_variant,p.Leu354Met,ENST00000398896,;USP19,missense_variant,p.Leu546Met,ENST00000398888,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000491859,;	2151	101	98	SUCCESS
GRM7	2917	.	GRCh37	3	6903173	6903173	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764457381	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	11	109	0	ENST00000357716.4:c.98G>A	p.Arg33His	p.R33H	ENST00000357716	NM_000844.3	33	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS43042.1	98	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGCGGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Prints_domain:PR01057	.	.	ENSP00000350348	.	1/10	.	.	.	.	.	.	.	.	rs764457381,COSM731662	1/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0)	.	tolerated(0.13)	0,1	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Arg33His,ENST00000402647,;GRM7,missense_variant,p.Arg33His,ENST00000486284,;GRM7,missense_variant,p.Arg33His,ENST00000389336,;GRM7,missense_variant,p.Arg33His,ENST00000357716,;GRM7,missense_variant,p.Arg33His,ENST00000403881,;GRM7,intron_variant,,ENST00000448328,;GRM7,missense_variant,p.Arg33His,ENST00000389335,;GRM7,missense_variant,p.Arg33His,ENST00000467425,;GRM7,missense_variant,p.Arg33His,ENST00000440923,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	372	109	103	SUCCESS
TET2	54790	.	GRCh37	4	106160052	106160052	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	99	0	ENST00000380013.4:c.3409+1544A>G		p.*1137*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47120.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATATATTTCT	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000413648,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000513237,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,intron_variant,,ENST00000265149,;	.	99	114	SUCCESS
SEC24D	9871	.	GRCh37	4	119653989	119653989	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763462468	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	38	134	0	ENST00000280551.6:c.2575C>G	p.Pro859Ala	p.P859A	ENST00000280551		859	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS3710.1	2575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGTCTGC	NONE	byCluster	.	hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803,Pfam_domain:PF04815,Superfamily_domains:SSF81811	.	.	ENSP00000280551	.	20/23	.	.	.	.	.	.	.	.	rs763462468	20/23	PASS	ENST00000280551	Transcript	1	.	ENSG00000150961	10706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.87)	.	SC24D_HUMAN	SEC24D	HGNC	E9PDM8_HUMAN,D6RGJ5_HUMAN	.	UPI00001AEA4F	SNV	SEC24D,missense_variant,p.Pro860Ala,ENST00000379735,;SEC24D,missense_variant,p.Pro859Ala,ENST00000280551,;SEC24D,missense_variant,p.Pro490Ala,ENST00000511481,;SEC24D,3_prime_UTR_variant,,ENST00000429811,;SEC24D,downstream_gene_variant,,ENST00000419654,;SEC24D,non_coding_transcript_exon_variant,,ENST00000505134,;SEC24D,non_coding_transcript_exon_variant,,ENST00000511715,;SEC24D,downstream_gene_variant,,ENST00000514561,;SEC24D,upstream_gene_variant,,ENST00000502830,;	2814	134	126	SUCCESS
SLC25A31	83447	.	GRCh37	4	128651788	128651788	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773420489	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	40	190	0	ENST00000281154.4:c.88G>A	p.Ala30Thr	p.A30T	ENST00000281154	NM_031291.2	30	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3733.1	88	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGCGGCA	NONE	byFrequency	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF169,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00927,Prints_domain:PR00926	.	.	ENSP00000281154	.	1/6	.	.	.	.	.	.	.	.	rs773420489,COSM4122157	1/6	PASS	ENST00000281154	Transcript	.	.	ENSG00000151475	25319	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.892)	.	deleterious(0.02)	0,1	ADT4_HUMAN	SLC25A31	HGNC	.	.	UPI0000037D19	SNV	SLC25A31,missense_variant,p.Ala30Thr,ENST00000281154,;INTU,downstream_gene_variant,,ENST00000335251,;	256	190	205	SUCCESS
FGB	2244	.	GRCh37	4	155487708	155487708	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1578782625	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	19	126	0	ENST00000302068.4:c.374A>G	p.Asn125Ser	p.N125S	ENST00000302068	NM_005141.4	125	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3786.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAATAGTG	NONE	.	.	Superfamily_domains:SSF58010,Pfam_domain:PF08702,Gene3D:1.20.5.50,hmmpanther:PTHR19143:SF23,hmmpanther:PTHR19143	.	.	ENSP00000306099	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000302068	Transcript	1	.	ENSG00000171564	3662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	FIBB_HUMAN	FGB	HGNC	D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN	.	UPI000012A778	SNV	FGB,missense_variant,p.Asn125Ser,ENST00000302068,;FGB,intron_variant,,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,3_prime_UTR_variant,,ENST00000425838,;FGB,non_coding_transcript_exon_variant,,ENST00000473984,;FGB,non_coding_transcript_exon_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000498375,;	437	126	125	SUCCESS
WDR19	57728	.	GRCh37	4	39229946	39229946	+	synonymous_variant	Silent	SNP	C	C	T	rs539697450	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	109	0	ENST00000399820.3:c.1746C>T	p.Tyr582=	p.Y582=	ENST00000399820	NM_025132.3	582	taC/taT	0	.	T:0	.	T:0	.	T	Y	protein_coding	YES	CCDS47042.1	1746	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTACACTTA	NONE	by1000G	.	hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	T:0	.	ENSP00000382717	T:0	16/37	.	.	.	.	.	.	.	.	rs539697450	16/37	PASS	ENST00000399820	Transcript	1	T:0.0002	ENSG00000157796	18340	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,synonymous_variant,p.%3D,ENST00000288634,;WDR19,synonymous_variant,p.%3D,ENST00000399820,;WDR19,intron_variant,,ENST00000511729,;WDR19,upstream_gene_variant,,ENST00000515631,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,upstream_gene_variant,,ENST00000507228,;	1900	109	111	SUCCESS
ODAM	54959	.	GRCh37	4	71063815	71063815	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	7	97	0	ENST00000396094.2:c.316G>T	p.Gly106Cys	p.G106C	ENST00000396094	NM_017855.3	106	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS3536.2	316	MUTECT|MUSE	.	AGGCAGGCCAA	NONE	.	.	hmmpanther:PTHR16237,hmmpanther:PTHR16237:SF2,Pfam_domain:PF15424	.	.	ENSP00000379401	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000396094	Transcript	.	.	ENSG00000109205	26043	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.685)	.	deleterious(0.04)	.	ODAM_HUMAN	ODAM	HGNC	.	.	UPI0000413A02	SNV	ODAM,missense_variant,p.Gly59Cys,ENST00000514097,;ODAM,missense_variant,p.Gly106Cys,ENST00000396094,;ODAM,missense_variant,p.Gly92Cys,ENST00000510709,;ODAM,non_coding_transcript_exon_variant,,ENST00000506248,;ODAM,upstream_gene_variant,,ENST00000510847,;	364	97	96	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532159	140532159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	25	173	0	ENST00000231136.1:c.2321C>T	p.Pro774Leu	p.P774L	ENST00000231136	NM_018939.2	774	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4248.1	2321	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCTCAGG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.55)	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,missense_variant,p.Pro638Leu,ENST00000543635,;PCDHB6,missense_variant,p.Pro774Leu,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2321	173	193	SUCCESS
PCDHGB1	56104	.	GRCh37	5	140731361	140731361	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762711142	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	94	0	ENST00000523390.1:c.1534G>A	p.Ala512Thr	p.A512T	ENST00000523390	NM_018922.2	512	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54923.1	1534	MUTECT|MUSE|VARSCANS	.	TGTTCGCGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429273	.	1/4	.	.	.	.	.	.	.	.	rs762711142,COSM1595007,COSM1063058	1/4	PASS	ENST00000523390	Transcript	.	.	ENSG00000254221	8708	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	PCDGD_HUMAN	PCDHGB1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073588	SNV	PCDHGB1,missense_variant,p.Ala512Thr,ENST00000523390,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA4,upstream_gene_variant,,ENST00000571252,;	1534	94	63	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140745675	140745675	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1179892338	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	30	105	1	ENST00000518069.1:c.1778C>A	p.Ala593Glu	p.A593E	ENST00000518069	NM_018918.2	593	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS54925.1	1778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCGGTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,missense_variant,p.Ala593Glu,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGB3,upstream_gene_variant,,ENST00000576222,;	1778	106	102	SUCCESS
CYFIP2	26999	.	GRCh37	5	156819926	156819926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	82	0	ENST00000521420.1:c.3602C>A	p.Ser1201Tyr	p.S1201Y	ENST00000521420		1201	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	.	3602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCCGTGG	NONE	.	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1	.	.	ENSP00000430904	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.44)	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,missense_variant,p.Ser1201Tyr,ENST00000521420,;CYFIP2,missense_variant,p.Ser1227Tyr,ENST00000377576,;CYFIP2,missense_variant,p.Ser1152Tyr,ENST00000541131,;CYFIP2,missense_variant,p.Ser1252Tyr,ENST00000318218,;CYFIP2,missense_variant,p.Ser926Tyr,ENST00000435847,;CYFIP2,missense_variant,p.Ser1227Tyr,ENST00000347377,;CYFIP2,missense_variant,p.Ser1031Tyr,ENST00000522463,;CYFIP2,3_prime_UTR_variant,,ENST00000442283,;ADAM19,downstream_gene_variant,,ENST00000430702,;CTB-109A12.1,intron_variant,,ENST00000519499,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000523383,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000519663,;CYFIP2,downstream_gene_variant,,ENST00000522775,;CYFIP2,downstream_gene_variant,,ENST00000524058,;CYFIP2,downstream_gene_variant,,ENST00000522884,;ADAM19,downstream_gene_variant,,ENST00000517951,;	3693	82	74	SUCCESS
CARD6	84674	.	GRCh37	5	40852639	40852639	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	91	0	ENST00000254691.5:c.1205A>C	p.Gln402Pro	p.Q402P	ENST00000254691	NM_032587.3	402	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS3935.1	1205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGTTTG	NONE	.	.	hmmpanther:PTHR22797:SF26,hmmpanther:PTHR22797	.	.	ENSP00000254691	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254691	Transcript	.	.	ENSG00000132357	16394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0.03)	.	CARD6_HUMAN	CARD6	HGNC	.	.	UPI000013CE50	SNV	CARD6,missense_variant,p.Gln402Pro,ENST00000254691,;CARD6,intron_variant,,ENST00000381677,;	1404	91	94	SUCCESS
C5orf51	285636	.	GRCh37	5	41912232	41912232	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	52	0	ENST00000381647.2:c.548T>G	p.Leu183Ter	p.L183*	ENST00000381647	NM_175921.4	183	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS34151.1	548	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTAAATG	NONE	.	.	.	.	.	ENSP00000371061	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000381647	Transcript	.	.	ENSG00000205765	27750	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE051_HUMAN	C5orf51	HGNC	.	.	UPI00001D7FA4	SNV	C5orf51,stop_gained,p.Leu183Ter,ENST00000381647,;C5orf51,downstream_gene_variant,,ENST00000505931,;C5orf51,downstream_gene_variant,,ENST00000509976,;	567	52	51	SUCCESS
PAPD7	0	.	GRCh37	5	6753104	6753104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	7	109	0	ENST00000230859.6:c.1388C>A	p.Pro463His	p.P463H	ENST00000230859	NM_001171805.1	463	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3871.1	1388	MUTECT|MUSE	.	CATTCCCTCAG	NONE	.	.	hmmpanther:PTHR23092:SF24,hmmpanther:PTHR23092,Low_complexity_(Seg):seg	.	.	ENSP00000230859	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000230859	Transcript	.	.	ENSG00000112941	16705	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.503)	.	tolerated_low_confidence(0.09)	.	PAPD7_HUMAN	PAPD7	HGNC	M1JCE6_HUMAN,D6RJD0_HUMAN,B7ZLL4_HUMAN,B4E0T3_HUMAN	.	UPI0000071E30	SNV	PAPD7,missense_variant,p.Pro463His,ENST00000230859,;PAPD7,non_coding_transcript_exon_variant,,ENST00000514697,;PAPD7,downstream_gene_variant,,ENST00000511764,;PAPD7,downstream_gene_variant,,ENST00000514410,;PAPD7,downstream_gene_variant,,ENST00000505457,;	1517	109	111	SUCCESS
PDE8B	8622	.	GRCh37	5	76722294	76722294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	8	160	0	ENST00000264917.5:c.2573T>A	p.Met858Lys	p.M858K	ENST00000264917	NM_003719.3	858	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS4037.1	2573	MUTECT|MUSE	.	CCTGATGCAAC	NONE	.	.	hmmpanther:PTHR11347:SF98,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000264917	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000264917	Transcript	1	.	ENSG00000113231	8794	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.75)	.	deleterious(0)	.	PDE8B_HUMAN	PDE8B	HGNC	Q3ZCR2_HUMAN,D6RH10_HUMAN,D6R9W0_HUMAN,B3KN77_HUMAN	.	UPI0000001BBE	SNV	PDE8B,missense_variant,p.Met803Lys,ENST00000333194,;PDE8B,missense_variant,p.Met838Lys,ENST00000342343,;PDE8B,missense_variant,p.Met323Lys,ENST00000505283,;PDE8B,missense_variant,p.Met858Lys,ENST00000264917,;PDE8B,missense_variant,p.Met761Lys,ENST00000346042,;PDE8B,missense_variant,p.Met811Lys,ENST00000340978,;WDR41,downstream_gene_variant,,ENST00000296679,;WDR41,intron_variant,,ENST00000514878,;WDR41,downstream_gene_variant,,ENST00000512033,;WDR41,downstream_gene_variant,,ENST00000508154,;	2618	160	186	SUCCESS
TRDN	10345	.	GRCh37	6	123658784	123658784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	28	191	0	ENST00000334268.4:c.1400C>T	p.Ser467Phe	p.S467F	ENST00000334268		467	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS55053.1	1400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGAAGTC	NONE	.	.	hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0	.	.	ENSP00000381240	.	22/41	.	.	.	.	.	.	.	.	.	22/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Ser467Phe,ENST00000398178,;TRDN,missense_variant,p.Ser467Phe,ENST00000334268,;	1422	191	163	SUCCESS
KATNBL1P6	729176	.	GRCh37	6	147123924	147123924	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	25	301	0	ENST00000562413.2:n.1037T>G		p.*346*	ENST00000562413				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGAAATCT	NONE	.	.	.	.	.	ENSP00000381036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODIFIER	35/35	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,intron_variant,,ENST00000367493,;ADGB,intron_variant,,ENST00000367490,;ADGB,intron_variant,,ENST00000367489,;ADGB,intron_variant,,ENST00000397944,;ADGB,intron_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000562413,;ADGB,intron_variant,,ENST00000493950,;ADGB,intron_variant,,ENST00000480328,;KATNBL1P6,downstream_gene_variant,,ENST00000453433,;	.	301	168	SUCCESS
HIST1H3J	0	.	GRCh37	6	27858205	27858205	+	synonymous_variant	Silent	SNP	A	A	C	rs746976536	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	102	0	ENST00000359303.2:c.366T>G	p.Pro122=	p.P122=	ENST00000359303	NM_003535.2	122	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4638.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTAGGCAT	NONE	.	.	hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000352252	.	1/1	.	.	.	.	.	.	.	.	rs746976536	1/1	PASS	ENST00000359303	Transcript	.	.	ENSG00000197153	4774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3J	HGNC	.	.	UPI00000003C7	SNV	HIST1H3J,synonymous_variant,p.%3D,ENST00000359303,;HIST1H2BO,upstream_gene_variant,,ENST00000303806,;HIST1H2AM,downstream_gene_variant,,ENST00000359611,;HIST1H3J,downstream_gene_variant,,ENST00000479986,;	366	102	104	SUCCESS
PKHD1	5314	.	GRCh37	6	51491853	51491853	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	122	0	ENST00000371117.3:c.11727C>G	p.Ile3909Met	p.I3909M	ENST00000371117	NM_138694.3	3909	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS4935.1	11727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGATGTG	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	66/67	.	.	.	.	.	.	.	.	.	66/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.11)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Ile3909Met,ENST00000371117,;RP3-335N17.2,downstream_gene_variant,,ENST00000589278,;RP3-335N17.2,downstream_gene_variant,,ENST00000454361,;RP3-335N17.2,downstream_gene_variant,,ENST00000587000,;	12003	122	82	SUCCESS
EPHA7	2045	.	GRCh37	6	93967865	93967865	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	60	0	ENST00000369303.4:c.2062C>T	p.Gln688Ter	p.Q688*	ENST00000369303	NM_004440.3	688	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5031.1	2062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGCCCCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000358309	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,stop_gained,p.Gln688Ter,ENST00000369303,;	2247	60	44	SUCCESS
VWDE	221806	.	GRCh37	7	12409710	12409710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	103	0	ENST00000275358.3:c.2222A>G	p.Glu741Gly	p.E741G	ENST00000275358	NM_001135924.1	741	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS47544.1	2222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTCTTGG	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.11)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Glu741Gly,ENST00000275358,;VWDE,missense_variant,p.Glu741Gly,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	2411	103	103	SUCCESS
SND1	27044	.	GRCh37	7	127361444	127361444	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	53	0	ENST00000354725.3:c.1142A>G	p.Glu381Gly	p.E381G	ENST00000354725	NM_014390.2	381	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34747.1	1142	MUTECT|MUSE	.	GGGGGAGAACA	NONE	.	.	PROSITE_profiles:PS50830,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00565,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,SMART_domains:SM00318,Superfamily_domains:0047647	.	.	ENSP00000346762	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.14)	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,missense_variant,p.Glu381Gly,ENST00000354725,;SND1,non_coding_transcript_exon_variant,,ENST00000468166,;SND1,non_coding_transcript_exon_variant,,ENST00000465900,;	1336	53	51	SUCCESS
SSPO	0	.	GRCh37	7	149501107	149501107	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs752686630	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	126	0	ENST00000378016.2:n.8243C>T		p.*2748*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GGCAGCCTGGG	NONE	.	.	.	.	.	.	.	56/109	.	.	.	.	.	.	.	.	rs752686630	56/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000484709,;SSPO,downstream_gene_variant,,ENST00000472797,;SSPO,downstream_gene_variant,,ENST00000475488,;	8243	126	98	SUCCESS
GIMAP1	170575	.	GRCh37	7	150417974	150417974	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769032549	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	81	0	ENST00000307194.5:c.882G>T	p.Arg294Ser	p.R294S	ENST00000307194	NM_130759.3	294	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS5906.1	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGCGGTG	NONE	.	.	hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF46	.	.	ENSP00000302833	.	3/3	.	.	.	.	.	.	.	.	rs769032549	3/3	PASS	ENST00000307194	Transcript	.	.	ENSG00000213203	23237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.151)	.	deleterious(0.04)	.	GIMA1_HUMAN	GIMAP1	HGNC	.	.	UPI0000073C9B	SNV	GIMAP1,missense_variant,p.Arg294Ser,ENST00000307194,;GIMAP5,upstream_gene_variant,,ENST00000498181,;GIMAP1,downstream_gene_variant,,ENST00000464461,;	1022	81	81	SUCCESS
ASIC3	9311	.	GRCh37	7	150746378	150746378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	40	1	ENST00000349064.5:c.406C>T	p.Pro136Ser	p.P136S	ENST00000349064	NM_004769.3	136	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS5915.1	406	MUTECT|MUSE|VARSCANS	.	CACCGCCCGGC	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF14,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859,Gene3D:2qtsA03	.	.	ENSP00000297512	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000297512	Transcript	.	.	ENSG00000213199	101	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.228)	.	tolerated(0.32)	.	ASIC3_HUMAN	ASIC3	HGNC	.	.	UPI00000300F6	SNV	ASIC3,missense_variant,p.Pro136Ser,ENST00000349064,;ASIC3,missense_variant,p.Pro136Ser,ENST00000357922,;ASIC3,missense_variant,p.Pro136Ser,ENST00000297512,;ABCB8,downstream_gene_variant,,ENST00000356058,;ABCB8,downstream_gene_variant,,ENST00000297504,;CDK5,downstream_gene_variant,,ENST00000485972,;ABCB8,downstream_gene_variant,,ENST00000498578,;ABCB8,downstream_gene_variant,,ENST00000358849,;CDK5,downstream_gene_variant,,ENST00000297518,;ASIC3,upstream_gene_variant,,ENST00000490540,;ABCB8,downstream_gene_variant,,ENST00000542328,;ASIC3,upstream_gene_variant,,ENST00000485929,;ASIC3,missense_variant,p.Pro136Ser,ENST00000377904,;ASIC3,missense_variant,p.Pro136Ser,ENST00000468325,;ASIC3,upstream_gene_variant,,ENST00000498105,;ABCB8,downstream_gene_variant,,ENST00000482309,;ABCB8,downstream_gene_variant,,ENST00000466514,;ASIC3,upstream_gene_variant,,ENST00000474135,;ABCB8,downstream_gene_variant,,ENST00000482899,;	406	41	36	SUCCESS
SUGCT	79783	.	GRCh37	7	40174633	40174633	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	23	165	0	ENST00000335693.4:c.35T>A	p.Leu12Gln	p.L12Q	ENST00000335693	NM_001193313.1	12	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS55104.1	35	RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGGCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6	.	.	ENSP00000312054	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000309930	Transcript	.	.	ENSG00000175600	16001	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.883)	.	deleterious(0.04)	.	SUCHY_HUMAN	SUGCT	HGNC	Q9Y6U8_HUMAN,Q75MU8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN	.	UPI000013EF6B	SNV	SUGCT,missense_variant,p.Leu5Gln,ENST00000540834,;SUGCT,missense_variant,p.Leu12Gln,ENST00000309930,;SUGCT,missense_variant,p.Leu12Gln,ENST00000335693,;SUGCT,missense_variant,p.Leu7Gln,ENST00000416370,;SUGCT,missense_variant,p.Leu12Gln,ENST00000401647,;SUGCT,synonymous_variant,p.%3D,ENST00000413931,;MPLKIP,upstream_gene_variant,,ENST00000306984,;SUGCT,missense_variant,p.Leu12Gln,ENST00000444074,;	59	165	156	SUCCESS
C7orf25	79020	.	GRCh37	7	42949520	42949520	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	13	172	0	ENST00000350427.4:c.980C>T	p.Ala327Val	p.A327V	ENST00000350427		327	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47576.1	1154	MUTECT|MUSE|VARSCANS	.	CAGTGGCCCTC	NONE	.	.	Pfam_domain:PF07000,hmmpanther:PTHR13379	.	.	ENSP00000416290	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431882	Transcript	.	.	ENSG00000136197	21703	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	CG025_HUMAN	C7orf25	HGNC	C9K0L6_HUMAN,C9JF90_HUMAN	.	UPI000159689A	SNV	C7orf25,missense_variant,p.Ala385Val,ENST00000431882,;C7orf25,missense_variant,p.Ala327Val,ENST00000438029,;C7orf25,missense_variant,p.Ala327Val,ENST00000350427,;C7orf25,missense_variant,p.Ala327Val,ENST00000447342,;C7orf25,downstream_gene_variant,,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;PSMA2,3_prime_UTR_variant,,ENST00000442788,;PSMA2,downstream_gene_variant,,ENST00000433579,;	1177	172	154	SUCCESS
VPS13B	157680	.	GRCh37	8	100287443	100287443	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1222718209	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	10	87	0	ENST00000358544.2:c.2785A>G	p.Ile929Val	p.I929V	ENST00000358544	NM_017890.4	929	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS6280.1	2785	RADIA|MUTECT|MUSE|VARSCANS	.	TCACAATCCAA	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	19/62	.	.	.	.	.	.	.	.	.	19/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Ile929Val,ENST00000395996,;VPS13B,missense_variant,p.Ile929Val,ENST00000358544,;VPS13B,missense_variant,p.Ile929Val,ENST00000357162,;VPS13B,non_coding_transcript_exon_variant,,ENST00000522802,;VPS13B,missense_variant,p.Ile929Val,ENST00000496144,;	2896	87	107	SUCCESS
MIR2053	100302225	.	GRCh37	8	113655802	113655802	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	87	0	ENST00000459295.1:n.81T>C		p.*27*	ENST00000459295				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE|VARSCANS	.	CTATTTACATA	NONE	.	.	.	.	.	ENSP00000297405	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	20/70	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000455883,;CSMD3,intron_variant,,ENST00000297405,;CSMD3,intron_variant,,ENST00000339701,;CSMD3,intron_variant,,ENST00000343508,;MIR2053,mature_miRNA_variant,,ENST00000459295,;	.	87	102	SUCCESS
ENPP2	5168	.	GRCh37	8	120575128	120575128	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	67	122	1	ENST00000075322.6:c.2390C>G	p.Pro797Arg	p.P797R	ENST00000075322	NM_001040092.2	797	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS6329.1	2546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGAGGCAGG	NONE	.	.	Superfamily_domains:SSF54060,SMART_domains:SM00892,SMART_domains:SM00477,Pfam_domain:PF01223,Gene3D:1g8tA00	.	.	ENSP00000259486	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000259486	Transcript	.	.	ENSG00000136960	3357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ENPP2_HUMAN	ENPP2	HGNC	.	.	UPI000013C57A	SNV	ENPP2,missense_variant,p.Pro432Arg,ENST00000522167,;ENPP2,missense_variant,p.Pro849Arg,ENST00000259486,;ENPP2,missense_variant,p.Pro797Arg,ENST00000075322,;ENPP2,missense_variant,p.Pro818Arg,ENST00000427067,;ENPP2,missense_variant,p.Pro822Arg,ENST00000522826,;ENPP2,non_coding_transcript_exon_variant,,ENST00000523861,;	2596	123	148	SUCCESS
TMEM66	0	.	GRCh37	8	29940360	29940360	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	46	389	1	ENST00000256255.6:c.103+3G>T		p.X35_splice	ENST00000256255	NM_016127.4	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6074.1	.	RADIA|MUSE|VARSCANS	.	GCACTCACCAG	NONE	.	.	.	.	.	ENSP00000256255	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256255	Transcript	.	.	ENSG00000133872	28789	.	.	LOW	1/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SARAF_HUMAN	TMEM66	HGNC	E5RHW0_HUMAN,B7Z307_HUMAN	.	UPI0000035F61	SNV	TMEM66,splice_region_variant,,ENST00000545648,;TMEM66,splice_region_variant,,ENST00000536273,;TMEM66,splice_region_variant,,ENST00000523761,;TMEM66,splice_region_variant,,ENST00000256255,;TMEM66,splice_region_variant,,ENST00000521265,;TMEM66,upstream_gene_variant,,ENST00000522794,;RP11-489E7.4,non_coding_transcript_exon_variant,,ENST00000606596,;TMEM66,splice_region_variant,,ENST00000521083,;TMEM66,splice_region_variant,,ENST00000518174,;TMEM66,splice_region_variant,,ENST00000520303,;TMEM66,splice_region_variant,,ENST00000518340,;TMEM66,splice_region_variant,,ENST00000517569,;TMEM66,intron_variant,,ENST00000522055,;	.	390	253	SUCCESS
ERLIN2	11160	.	GRCh37	8	37603149	37603149	+	intron_variant	Intron	SNP	A	A	G	rs1021078294	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	164	0	ENST00000276461.5:c.424+935A>G		p.*142*	ENST00000276461	NM_007175.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6095.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCATAGCA	NONE	.	.	.	.	.	ENSP00000276461	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000276461	Transcript	1	.	ENSG00000147475	1356	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERLN2_HUMAN	ERLIN2	HGNC	E5RHW4_HUMAN	.	UPI0000073DE1	SNV	ERLIN2,3_prime_UTR_variant,,ENST00000518586,;ERLIN2,3_prime_UTR_variant,,ENST00000523887,;ERLIN2,3_prime_UTR_variant,,ENST00000397228,;ERLIN2,3_prime_UTR_variant,,ENST00000335171,;ERLIN2,intron_variant,,ENST00000519638,;ERLIN2,intron_variant,,ENST00000518526,;ERLIN2,intron_variant,,ENST00000276461,;ERLIN2,intron_variant,,ENST00000521644,;ERLIN2,downstream_gene_variant,,ENST00000523107,;ERLIN2,intron_variant,,ENST00000521993,;ERLIN2,downstream_gene_variant,,ENST00000519872,;RP11-863K10.4,downstream_gene_variant,,ENST00000453751,;RP11-863K10.4,downstream_gene_variant,,ENST00000521192,;	.	164	129	SUCCESS
MYBL1	4603	.	GRCh37	8	67478976	67478976	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	54	94	0	ENST00000522677.3:c.1893T>C	p.Asn631=	p.N631=	ENST00000522677	NM_001080416.2	631	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS47867.1	1893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAATTATC	NONE	.	.	Pfam_domain:PF09316,hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641	.	.	ENSP00000429633	.	14/16	.	.	.	.	.	.	.	.	COSM3720520	14/16	PASS	ENST00000522677	Transcript	.	.	ENSG00000185697	7547	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MYBA_HUMAN	MYBL1	HGNC	Q6LD85_HUMAN	.	UPI000012FADE	SNV	MYBL1,synonymous_variant,p.%3D,ENST00000522677,;MYBL1,synonymous_variant,p.%3D,ENST00000524176,;MYBL1,synonymous_variant,p.%3D,ENST00000517885,;MYBL1,non_coding_transcript_exon_variant,,ENST00000522419,;	2304	94	138	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70674091	70674091	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	65	0	ENST00000260126.4:c.927A>T	p.Gly309=	p.G309=	ENST00000260126	NM_030958.2	309	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6205.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTCCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF86,hmmpanther:PTHR11388,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Superfamily_domains:SSF103473	.	.	ENSP00000260126	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,synonymous_variant,p.%3D,ENST00000530307,;SLCO5A1,synonymous_variant,p.%3D,ENST00000524945,;SLCO5A1,synonymous_variant,p.%3D,ENST00000260126,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,;	1634	65	92	SUCCESS
TRPA1	8989	.	GRCh37	8	72959441	72959441	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	536	12	412	0	ENST00000262209.4:c.1907T>A	p.Val636Glu	p.V636E	ENST00000262209	NM_007332.2	636	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS34908.1	1907	MUTECT|MUSE	.	AAAGTACCTTT	NONE	.	.	hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5	.	.	ENSP00000262209	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.475)	.	tolerated(0.27)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Val488Glu,ENST00000523582,;TRPA1,missense_variant,p.Val636Glu,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000522271,;	2115	412	548	SUCCESS
TNC	3371	.	GRCh37	9	117853261	117853261	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	32	0	ENST00000350763.4:c.37C>A	p.Leu13Ile	p.L13I	ENST00000350763	NM_002160.3	13	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS6811.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAGAAAGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143	.	.	ENSP00000265131	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000350763	Transcript	.	.	ENSG00000041982	5318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.16)	.	TENA_HUMAN	TNC	HGNC	F5H5D6_HUMAN	.	UPI000013D5BD	SNV	TNC,missense_variant,p.Leu13Ile,ENST00000345230,;TNC,missense_variant,p.Leu13Ile,ENST00000534839,;TNC,missense_variant,p.Leu13Ile,ENST00000542877,;TNC,missense_variant,p.Leu13Ile,ENST00000346706,;TNC,missense_variant,p.Leu13Ile,ENST00000537320,;TNC,missense_variant,p.Leu13Ile,ENST00000341037,;TNC,missense_variant,p.Leu13Ile,ENST00000350763,;TNC,missense_variant,p.Leu13Ile,ENST00000535648,;TNC,missense_variant,p.Leu13Ile,ENST00000340094,;TNC,missense_variant,p.Leu13Ile,ENST00000423613,;	449	32	47	SUCCESS
GAPVD1	26130	.	GRCh37	9	128070380	128070380	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	13	0	ENST00000394104.2:c.1441+221A>G		p.*481*	ENST00000394104	NM_001282679.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35138.1	.	MUTECT|MUSE	.	AAGTCATGCTA	NONE	.	.	.	.	.	ENSP00000377665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	MODIFIER	6/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,3_prime_UTR_variant,,ENST00000394084,;GAPVD1,intron_variant,,ENST00000297933,;GAPVD1,intron_variant,,ENST00000470056,;GAPVD1,intron_variant,,ENST00000394104,;GAPVD1,intron_variant,,ENST00000431329,;GAPVD1,intron_variant,,ENST00000394105,;GAPVD1,intron_variant,,ENST00000265956,;GAPVD1,intron_variant,,ENST00000394083,;GAPVD1,intron_variant,,ENST00000467750,;GAPVD1,intron_variant,,ENST00000436712,;GAPVD1,intron_variant,,ENST00000495955,;GAPVD1,intron_variant,,ENST00000312123,;RNU6-1020P,upstream_gene_variant,,ENST00000363684,;GAPVD1,intron_variant,,ENST00000497580,;	.	13	24	SUCCESS
DOLK	22845	.	GRCh37	9	131709850	131709850	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	85	0	ENST00000372586.3:c.-268C>T		p.*90*	ENST00000372586	NM_014908.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6915.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGGCTCCT	NONE	.	.	.	.	.	ENSP00000361667	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372586	Transcript	.	.	ENSG00000175283	23406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOLK_HUMAN	DOLK	HGNC	.	.	UPI0000001C36	SNV	DOLK,5_prime_UTR_variant,,ENST00000372586,;RP11-101E3.5,intron_variant,,ENST00000482796,;NUP188,upstream_gene_variant,,ENST00000372577,;NUP188,upstream_gene_variant,,ENST00000550219,;NUP188,upstream_gene_variant,,ENST00000491990,;NUP188,upstream_gene_variant,,ENST00000464729,;	49	85	60	SUCCESS
SPATA31D4	389761	.	GRCh37	9	84549365	84549365	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	32	0	ENST00000419782.2:n.4289G>A		p.*1430*	ENST00000419782				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	GGGGAGTTCCT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000585776,;RP11-383M4.2,upstream_gene_variant,,ENST00000427387,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000341875,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000419782,;	.	32	16	SUCCESS
ROR2	4920	.	GRCh37	9	94493238	94493238	+	synonymous_variant	Silent	SNP	C	C	T	rs767456619	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	125	0	ENST00000375708.3:c.1137G>A	p.Thr379=	p.T379=	ENST00000375708	NM_004560.3	379	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6691.1	1137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCGTAAA	NONE	.	.	Superfamily_domains:SSF57440,SMART_domains:SM00130,PIRSF_domain:PIRSF000624,Pfam_domain:PF00051,Gene3D:2.40.20.10,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50070	.	.	ENSP00000364860	.	7/9	.	.	.	.	.	.	.	.	rs767456619	7/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375715,;ROR2,synonymous_variant,p.%3D,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	1336	125	94	SUCCESS
LRCH2	57631	.	GRCh37	X	114357372	114357372	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1556526449	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	25	219	0	ENST00000317135.8:c.2051A>G	p.His684Arg	p.H684R	ENST00000317135	NM_020871.3	684	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS48155.1	2051	RADIA|MUTECT|MUSE|VARSCANS	.	TTATATGATTG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR23155:SF409,hmmpanther:PTHR23155,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000325091	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000317135	Transcript	.	.	ENSG00000130224	29292	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	LRCH2_HUMAN	LRCH2	HGNC	.	.	UPI000022DB30	SNV	LRCH2,missense_variant,p.His667Arg,ENST00000538422,;LRCH2,missense_variant,p.His684Arg,ENST00000317135,;SNORA35,downstream_gene_variant,,ENST00000607417,;	2082	219	224	SUCCESS
TENM1	10178	.	GRCh37	X	123514879	123514879	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	12	144	0	ENST00000371130.3:c.7685A>G	p.Asn2562Ser	p.N2562S	ENST00000371130	NM_014253.3	2562	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS55488.1	7706	MUTECT|MUSE	.	GTAGGTTTTCC	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.17)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Asn2569Ser,ENST00000422452,;TENM1,missense_variant,p.Asn2562Ser,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	7770	144	192	SUCCESS
ATP11C	286410	.	GRCh37	X	138882218	138882218	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	279	9	307	0	ENST00000327569.3:c.719+1G>C		p.X240_splice	ENST00000327569	NM_173694.4	240		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14668.1	.	MUTECT|MUSE	.	ACTTACCTGGC	NONE	.	.	.	.	.	ENSP00000332756	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327569	Transcript	.	.	ENSG00000101974	13554	.	.	HIGH	8/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT11C_HUMAN	ATP11C	HGNC	.	.	UPI000036777E	SNV	ATP11C,splice_donor_variant,,ENST00000370543,;ATP11C,splice_donor_variant,,ENST00000361648,;ATP11C,splice_donor_variant,,ENST00000327569,;ATP11C,splice_donor_variant,,ENST00000370557,;ATP11C,splice_donor_variant,,ENST00000359686,;ATP11C,downstream_gene_variant,,ENST00000485626,;ATP11C,upstream_gene_variant,,ENST00000460773,;	.	307	288	SUCCESS
PLXNA3	55558	.	GRCh37	X	153689565	153689565	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	123	0	ENST00000369682.3:c.721C>T	p.Leu241=	p.L241=	ENST00000369682	NM_017514.3	241	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14752.1	721	RADIA|MUTECT|MUSE|VARSCANS	.	TGACGCTGCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000358696	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,synonymous_variant,p.%3D,ENST00000369682,;PLXNA3,non_coding_transcript_exon_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000482598,;PLXNA3,upstream_gene_variant,,ENST00000478236,;	896	123	97	SUCCESS
NHS	4810	.	GRCh37	X	17743756	17743756	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	123	0	ENST00000380060.3:c.1467A>G	p.Glu489=	p.E489=	ENST00000380060	NM_198270.2	489	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS14181.1	1467	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAAGGTAA	NONE	.	.	hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039,Pfam_domain:PF15273	.	.	ENSP00000369400	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000380060	Transcript	.	.	ENSG00000188158	7820	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NHS_HUMAN	NHS	HGNC	.	.	UPI00001DFBF3	SNV	NHS,synonymous_variant,p.%3D,ENST00000380060,;NHS,synonymous_variant,p.%3D,ENST00000398097,;NHS,downstream_gene_variant,,ENST00000485305,;	1805	123	121	SUCCESS
CACNA1F	778	.	GRCh37	X	49065046	49065046	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	16	145	0	ENST00000376265.2:c.5085C>T	p.Pro1695=	p.P1695=	ENST00000376265	NM_005183.2	1695	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35253.1	5085	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGGGCCC	NONE	.	.	hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037	.	.	ENSP00000365441	.	43/48	.	.	.	.	.	.	.	.	.	43/48	PASS	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,synonymous_variant,p.%3D,ENST00000376251,;CACNA1F,synonymous_variant,p.%3D,ENST00000376265,;CACNA1F,synonymous_variant,p.%3D,ENST00000323022,;CACNA1F,downstream_gene_variant,,ENST00000486943,;CACNA1F,downstream_gene_variant,,ENST00000481035,;	5147	145	123	SUCCESS
BRWD3	254065	.	GRCh37	X	79971674	79971674	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	97	0	ENST00000373275.4:c.2307A>G	p.Pro769=	p.P769=	ENST00000373275	NM_153252.4	769	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS14447.1	2307	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGATGGCTT	NONE	.	.	hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266	.	.	ENSP00000362372	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	SNV	BRWD3,synonymous_variant,p.%3D,ENST00000373275,;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;BRWD3,downstream_gene_variant,,ENST00000497335,;	2524	97	79	SUCCESS
SYTL4	94121	.	GRCh37	X	99943335	99943335	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	98	0	ENST00000263033.5:c.1005+13A>G		p.*335*	ENST00000263033	NM_001129896.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14472.1	.	MUTECT|MUSE|VARSCANS	.	AGATCTAATAG	NONE	.	.	.	.	.	ENSP00000390252	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000455616	Transcript	.	.	ENSG00000102362	15588	.	.	MODIFIER	11/17	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYTL4_HUMAN	SYTL4	HGNC	B3KUZ4_HUMAN	.	UPI00001AE9F2	SNV	SYTL4,missense_variant,p.Arg340Gly,ENST00000372981,;SYTL4,intron_variant,,ENST00000372989,;SYTL4,intron_variant,,ENST00000454200,;SYTL4,intron_variant,,ENST00000263033,;SYTL4,intron_variant,,ENST00000455616,;SYTL4,intron_variant,,ENST00000276141,;	.	98	74	SUCCESS
GTPBP4	23560	.	GRCh37	10	1034457	1034457	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144664436	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	15	0	ENST00000360803.4:c.38C>T	p.Pro13Leu	p.P13L	ENST00000360803	NM_012341.2	13	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS31132.1	38	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCGTCCG	NONE	.	.	hmmpanther:PTHR11702:SF23,hmmpanther:PTHR11702,PIRSF_domain:PIRSF038919	.	.	ENSP00000354040	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000360803	Transcript	.	.	ENSG00000107937	21535	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.893)	.	deleterious(0)	.	NOG1_HUMAN	GTPBP4	HGNC	Q5T3R7_HUMAN,D2CFK9_HUMAN,B7Z7A3_HUMAN,B4DY13_HUMAN	.	UPI000000D960	SNV	GTPBP4,missense_variant,p.Pro13Leu,ENST00000360803,;GTPBP4,5_prime_UTR_variant,,ENST00000538293,;GTPBP4,upstream_gene_variant,,ENST00000545048,;GTPBP4,upstream_gene_variant,,ENST00000360059,;AL359878.1,upstream_gene_variant,,ENST00000381466,;GTPBP4,non_coding_transcript_exon_variant,,ENST00000491635,;	120	15	18	SUCCESS
SUV39H2	79723	.	GRCh37	10	14938885	14938885	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	65	0	ENST00000354919.6:c.218A>C	p.Asp73Ala	p.D73A	ENST00000354919	NM_001193424.1	73	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS53494.1	218	RADIA|MUSE|VARSCANS	.	GCCAGATTCTA	NONE	.	.	PROSITE_profiles:PS51579,PROSITE_profiles:PS50013,hmmpanther:PTHR22884:SF284,hmmpanther:PTHR22884,PROSITE_patterns:PS00598,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,PIRSF_domain:PIRSF009343,Superfamily_domains:SSF54160	.	.	ENSP00000346997	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000354919	Transcript	.	.	ENSG00000152455	17287	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.13)	.	tolerated(0.24)	.	SUV92_HUMAN	SUV39H2	HGNC	C9JMB4_HUMAN,C9IYH9_HUMAN	.	UPI0000136177	SNV	SUV39H2,missense_variant,p.Asp73Ala,ENST00000378325,;SUV39H2,missense_variant,p.Asp13Ala,ENST00000420416,;SUV39H2,missense_variant,p.Asp13Ala,ENST00000433779,;SUV39H2,missense_variant,p.Asp13Ala,ENST00000412254,;SUV39H2,missense_variant,p.Asp73Ala,ENST00000354919,;SUV39H2,missense_variant,p.Asp13Ala,ENST00000313519,;SUV39H2,intron_variant,,ENST00000358298,;DCLRE1C,downstream_gene_variant,,ENST00000378289,;SUV39H2,missense_variant,p.Arg24Ser,ENST00000378331,;	218	65	61	SUCCESS
PTCHD3	374308	.	GRCh37	10	27702131	27702131	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	94	0	ENST00000438700.3:c.1049T>C	p.Phe350Ser	p.F350S	ENST00000438700	NM_001034842.3	350	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS31173.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTAAATTGA	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460,Gene3D:2j8sB01	.	.	ENSP00000417658	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000438700	Transcript	.	.	ENSG00000182077	24776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.07)	.	PTHD3_HUMAN	PTCHD3	HGNC	I0CMK0_HUMAN	.	UPI000004E892	SNV	PTCHD3,missense_variant,p.Phe350Ser,ENST00000438700,;	1167	94	115	SUCCESS
PFKP	5214	.	GRCh37	10	3150974	3150974	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776455980	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	78	0	ENST00000381125.4:c.952G>A	p.Asp318Asn	p.D318N	ENST00000381125	NM_002627.4	318	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS7059.1	952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGACAGG	NONE	byFrequency	.	Prints_domain:PR00476,Superfamily_domains:SSF53784,PIRSF_domain:PIRSF000533,TIGRFAM_domain:TIGR02478,Pfam_domain:PF00365,PROSITE_patterns:PS00433,hmmpanther:PTHR13697:SF5,hmmpanther:PTHR13697,HAMAP:MF_00339	.	.	ENSP00000370517	.	9/22	.	.	.	.	.	.	.	.	rs776455980	9/22	PASS	ENST00000381125	Transcript	.	.	ENSG00000067057	8878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K6PP_HUMAN	PFKP	HGNC	Q5VSR6_HUMAN,Q5VSR5_HUMAN,B1APP8_HUMAN,B1APP6_HUMAN	.	UPI00000012D2	SNV	PFKP,missense_variant,p.Asp102Asn,ENST00000468050,;PFKP,missense_variant,p.Asp102Asn,ENST00000415005,;PFKP,missense_variant,p.Asp318Asn,ENST00000381125,;PFKP,missense_variant,p.Asp310Asn,ENST00000381075,;PFKP,upstream_gene_variant,,ENST00000413079,;PFKP,downstream_gene_variant,,ENST00000407806,;PFKP,downstream_gene_variant,,ENST00000421751,;PFKP,downstream_gene_variant,,ENST00000460445,;	1028	78	108	SUCCESS
KLF6	1316	.	GRCh37	10	3824157	3824157	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	46	130	1	ENST00000497571.1:c.352G>T	p.Glu118Ter	p.E118*	ENST00000497571	NM_001300.5	118	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7060.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCCTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF139	.	.	ENSP00000419923	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000497571	Transcript	1	.	ENSG00000067082	2235	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLF6_HUMAN	KLF6	HGNC	Q7Z3W8_HUMAN	.	UPI00000015BD	SNV	KLF6,stop_gained,p.Glu118Ter,ENST00000469435,;KLF6,stop_gained,p.Glu118Ter,ENST00000542957,;KLF6,stop_gained,p.Glu118Ter,ENST00000497571,;KLF6,non_coding_transcript_exon_variant,,ENST00000173785,;KLF6,non_coding_transcript_exon_variant,,ENST00000380946,;KLF6,upstream_gene_variant,,ENST00000461124,;KLF6,upstream_gene_variant,,ENST00000492125,;	613	131	158	SUCCESS
AGAP7	0	.	GRCh37	10	51464927	51464927	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	29	140	0	ENST00000374095.5:c.1529C>T	p.Ser510Leu	p.S510L	ENST00000374095	NM_001077685.2	510	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS41524.1	1529	RADIA|MUTECT|MUSE|VARSCANS	.	TAGATGACATA	NONE	.	.	Prints_domain:PR00405,Superfamily_domains:SSF57863,SMART_domains:SM00105,Pfam_domain:PF01412,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,PROSITE_profiles:PS50115	.	.	ENSP00000363208	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000374095	Transcript	.	.	ENSG00000204169	23465	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.45)	.	AGAP7_HUMAN	AGAP7	HGNC	.	.	UPI000016167D	SNV	AGAP7,missense_variant,p.Ser510Leu,ENST00000374095,;	1655	140	155	SUCCESS
CCDC6	8030	.	GRCh37	10	61592392	61592392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	213	70	248	1	ENST00000263102.6:c.473A>T	p.Glu158Val	p.E158V	ENST00000263102	NM_005436.4	158	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7257.1	473	RADIA|SOMATICSNIPER|VARSCANS	.	CTAGTTCGGCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15276:SF0,hmmpanther:PTHR15276,Pfam_domain:PF09755	.	.	ENSP00000263102	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000263102	Transcript	1	.	ENSG00000108091	18782	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.582)	.	deleterious(0.04)	.	CCDC6_HUMAN	CCDC6	HGNC	.	.	UPI000035B25A	SNV	CCDC6,missense_variant,p.Glu158Val,ENST00000263102,;	705	249	283	SUCCESS
JMJD1C	221037	.	GRCh37	10	64967201	64967201	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1397956442	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	89	0	ENST00000399262.2:c.4228A>G	p.Ser1410Gly	p.S1410G	ENST00000399262	NM_032776.1	1410	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS41532.1	4228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTGGAAA	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	tolerated_low_confidence(0.25)	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,missense_variant,p.Ser1191Gly,ENST00000399251,;JMJD1C,missense_variant,p.Ser1410Gly,ENST00000399262,;JMJD1C,missense_variant,p.Ser96Gly,ENST00000327520,;JMJD1C,missense_variant,p.Ser1228Gly,ENST00000542921,;JMJD1C,missense_variant,p.Ser1191Gly,ENST00000402544,;	4447	89	76	SUCCESS
JMJD1C	221037	.	GRCh37	10	64967202	64967202	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	91	0	ENST00000399262.2:c.4227C>A	p.Ser1409=	p.S1409=	ENST00000399262	NM_032776.1	1409	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41532.1	4227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGGAAAC	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,synonymous_variant,p.%3D,ENST00000399251,;JMJD1C,synonymous_variant,p.%3D,ENST00000399262,;JMJD1C,synonymous_variant,p.%3D,ENST00000327520,;JMJD1C,synonymous_variant,p.%3D,ENST00000542921,;JMJD1C,synonymous_variant,p.%3D,ENST00000402544,;	4446	91	76	SUCCESS
SFMBT2	57713	.	GRCh37	10	7423775	7423775	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1214550778	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	74	0	ENST00000361972.4:c.86G>A	p.Gly29Glu	p.G29E	ENST00000361972	NM_001018039.1	29	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS31138.1	86	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTCTCCATTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000355109	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.36)	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,missense_variant,p.Gly29Glu,ENST00000397160,;SFMBT2,missense_variant,p.Gly29Glu,ENST00000361972,;SFMBT2,missense_variant,p.Gly29Glu,ENST00000379711,;SFMBT2,missense_variant,p.Gly29Glu,ENST00000397167,;SFMBT2,missense_variant,p.Gly29Glu,ENST00000379713,;	177	74	81	SUCCESS
RP11-693N9.2	0	.	GRCh37	11	104776232	104776232	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	65	0	ENST00000531091.1:n.1442C>A		p.*481*	ENST00000531091				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATGAGTTG	NONE	.	.	.	.	.	.	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000531091	Transcript	.	.	ENSG00000235505	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-693N9.2	Clone_based_vega_gene	.	.	.	SNV	RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000531371,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000527637,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000532510,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000528437,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000531091,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000527425,;RP11-693N9.2,downstream_gene_variant,,ENST00000527617,;RP11-693N9.2,downstream_gene_variant,,ENST00000530264,;RP11-693N9.2,upstream_gene_variant,,ENST00000534659,;RP11-693N9.2,non_coding_transcript_exon_variant,,ENST00000532441,;	1442	65	50	SUCCESS
MUC2	4583	.	GRCh37	11	1078363	1078363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	46	0	ENST00000441003.2:c.650C>A	p.Ser217Tyr	p.S217Y	ENST00000441003	NM_002457.2	217	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	.	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATCCTGCT	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	5/49	.	.	.	.	.	.	.	.	.	5/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Ser217Tyr,ENST00000441003,;MUC2,missense_variant,p.Ser217Tyr,ENST00000359061,;	677	46	71	SUCCESS
MUC2	4583	.	GRCh37	11	1078364	1078364	+	synonymous_variant	Silent	SNP	C	C	T	rs1414364486	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	47	0	ENST00000441003.2:c.651C>T	p.Ser217=	p.S217=	ENST00000441003	NM_002457.2	217	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	.	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCCTGCTC	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	5/49	.	.	.	.	.	.	.	.	.	5/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,synonymous_variant,p.%3D,ENST00000359061,;	678	47	68	SUCCESS
DIXDC1	85458	.	GRCh37	11	111855960	111855962	+	inframe_deletion	In_Frame_Del	DEL	TAC	TAC	-	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	TAC	TAC	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	178	0	ENST00000440460.2:c.921_923del	p.Leu309del	p.L309del	ENST00000440460	NM_001037954.3	307	tTACtg/ttg	0	.	.	.	.	.	-	LL/L	protein_coding	YES	.	920-922	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCCTTACTGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF18	.	.	ENSP00000394352	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000440460	Transcript	.	.	ENSG00000150764	23695	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DIXDC1	HGNC	J3KQC9_HUMAN	.	UPI00015E0094	deletion	DIXDC1,inframe_deletion,p.Leu309del,ENST00000440460,;DIXDC1,inframe_deletion,p.Leu98del,ENST00000315253,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000530411,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524385,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000389821,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524609,;DIXDC1,upstream_gene_variant,,ENST00000526500,;	1217-1219	178	125	SUCCESS
GRIK4	2900	.	GRCh37	11	120831700	120831700	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	70	0	ENST00000438375.2:c.1957A>T	p.Ile653Phe	p.I653F	ENST00000438375	NM_014619.2	653	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS8433.1	1957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCATTGAG	NONE	.	.	hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000435648	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000527524	Transcript	.	.	ENSG00000149403	4582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,missense_variant,p.Ile653Phe,ENST00000438375,;GRIK4,missense_variant,p.Ile653Phe,ENST00000527524,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	2244	70	67	SUCCESS
ABCC8	6833	.	GRCh37	11	17430046	17430046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	24	1	ENST00000389817.3:c.2713G>T	p.Gly905Cys	p.G905C	ENST00000389817		905	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31437.1	2713	MUTECT|MUSE	.	GGTGCCATCCT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000374467	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.06)	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Gly905Cys,ENST00000389817,;ABCC8,missense_variant,p.Gly906Cys,ENST00000302539,;ABCC8,upstream_gene_variant,,ENST00000528374,;ABCC8,missense_variant,p.Gly895Cys,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526921,;ABCC8,non_coding_transcript_exon_variant,,ENST00000529967,;ABCC8,downstream_gene_variant,,ENST00000531911,;ABCC8,upstream_gene_variant,,ENST00000524561,;ABCC8,upstream_gene_variant,,ENST00000531137,;ABCC8,downstream_gene_variant,,ENST00000530147,;	2782	25	42	SUCCESS
ZNF408	79797	.	GRCh37	11	46726585	46726585	+	synonymous_variant	Silent	SNP	C	C	T	rs762021380	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	13	0	ENST00000311764.2:c.1335C>T	p.Ala445=	p.A445=	ENST00000311764	NM_024741.2	445	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7923.1	1335	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCTTTGC	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF175,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000309606	.	5/5	.	.	.	.	.	.	.	.	rs762021380	5/5	PASS	ENST00000311764	Transcript	.	.	ENSG00000175213	20041	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN408_HUMAN	ZNF408	HGNC	.	.	UPI0000132189	SNV	ZNF408,synonymous_variant,p.%3D,ENST00000311764,;ARHGAP1,upstream_gene_variant,,ENST00000311956,;ZNF408,downstream_gene_variant,,ENST00000534481,;ZNF408,downstream_gene_variant,,ENST00000531866,;ZNF408,downstream_gene_variant,,ENST00000527008,;ZNF408,downstream_gene_variant,,ENST00000526410,;ARHGAP1,upstream_gene_variant,,ENST00000529960,;ARHGAP1,upstream_gene_variant,,ENST00000524594,;	1565	13	18	SUCCESS
OR51G1	79324	.	GRCh37	11	4944842	4944842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	19	107	0	ENST00000321961.2:c.728G>T	p.Cys243Phe	p.C243F	ENST00000321961	NM_001005237.1	243	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31366.1	728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACAGGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Cys243Phe,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	796	107	105	SUCCESS
OR1S2	219958	.	GRCh37	11	57970715	57970715	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	103	0	ENST00000302592.6:c.939C>T	p.Ala313=	p.A313=	ENST00000302592	NM_001004459.1	313	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31545.1	939	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCAGGGCACC	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305469	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302592	Transcript	.	.	ENSG00000197887	15141	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR1S2_HUMAN	OR1S2	HGNC	.	.	UPI0000041D68	SNV	OR1S2,synonymous_variant,p.%3D,ENST00000302592,;	939	103	92	SUCCESS
GLYAT	10249	.	GRCh37	11	58477428	58477428	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	58	0	ENST00000344743.3:c.702G>C	p.Leu234Phe	p.L234F	ENST00000344743	NM_201648.2	234	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS7970.1	702	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGCAAGGT	NONE	.	.	hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF5,Pfam_domain:PF08444,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000340200	.	6/6	.	.	.	.	.	.	.	.	COSM429316	6/6	PASS	ENST00000344743	Transcript	.	.	ENSG00000149124	13734	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.836)	.	tolerated(0.06)	1	GLYAT_HUMAN	GLYAT	HGNC	.	.	UPI00003667C7	SNV	GLYAT,missense_variant,p.Leu234Phe,ENST00000529732,;GLYAT,missense_variant,p.Leu234Phe,ENST00000344743,;GLYAT,intron_variant,,ENST00000586098,;GLYAT,downstream_gene_variant,,ENST00000278400,;	844	58	78	SUCCESS
FAM160A2	0	.	GRCh37	11	6245606	6245606	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	27	135	0	ENST00000265978.4:c.138+3A>G		p.X46_splice	ENST00000265978	NM_032127.3	46		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7760.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTACCTG	NONE	.	.	.	.	.	ENSP00000265978	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265978	Transcript	.	.	ENSG00000051009	25378	.	.	LOW	2/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F16A2_HUMAN	FAM160A2	HGNC	.	.	UPI000013D6B5	SNV	FAM160A2,splice_region_variant,,ENST00000265978,;FAM160A2,splice_region_variant,,ENST00000449352,;FAM160A2,splice_region_variant,,ENST00000524416,;	.	135	122	SUCCESS
TRPT1	83707	.	GRCh37	11	63992051	63992051	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1404719597	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	35	0	ENST00000317459.6:c.466G>T	p.Ala156Ser	p.A156S	ENST00000317459		156	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS53652.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCAGGT	NONE	.	.	hmmpanther:PTHR12684,hmmpanther:PTHR12684:SF2,Pfam_domain:PF01885,Superfamily_domains:SSF56399	.	.	ENSP00000378050	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000394546	Transcript	.	.	ENSG00000149743	20316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.562)	.	tolerated(0.08)	.	TRPT1_HUMAN	TRPT1	HGNC	F5H8A0_HUMAN	.	UPI0001A51B8B	SNV	TRPT1,missense_variant,p.Ala156Ser,ENST00000317459,;TRPT1,missense_variant,p.Ala158Ser,ENST00000545812,;TRPT1,missense_variant,p.Ala107Ser,ENST00000394547,;TRPT1,missense_variant,p.Ala156Ser,ENST00000541278,;TRPT1,missense_variant,p.Ala30Ser,ENST00000546133,;TRPT1,missense_variant,p.Ala107Ser,ENST00000546089,;TRPT1,missense_variant,p.Ala20Ser,ENST00000544286,;TRPT1,missense_variant,p.Ala158Ser,ENST00000394546,;NUDT22,upstream_gene_variant,,ENST00000428347,;NUDT22,upstream_gene_variant,,ENST00000279206,;FERMT3,downstream_gene_variant,,ENST00000345728,;NUDT22,upstream_gene_variant,,ENST00000539325,;FERMT3,downstream_gene_variant,,ENST00000279227,;FERMT3,downstream_gene_variant,,ENST00000545896,;NUDT22,upstream_gene_variant,,ENST00000441250,;RP11-783K16.14,downstream_gene_variant,,ENST00000534988,;TRPT1,downstream_gene_variant,,ENST00000540472,;TRPT1,non_coding_transcript_exon_variant,,ENST00000536234,;TRPT1,non_coding_transcript_exon_variant,,ENST00000539595,;TRPT1,non_coding_transcript_exon_variant,,ENST00000541928,;TRPT1,non_coding_transcript_exon_variant,,ENST00000539436,;TRPT1,intron_variant,,ENST00000536158,;TRPT1,intron_variant,,ENST00000537907,;NUDT22,upstream_gene_variant,,ENST00000535000,;FERMT3,downstream_gene_variant,,ENST00000546255,;NUDT22,upstream_gene_variant,,ENST00000422364,;NUDT22,upstream_gene_variant,,ENST00000534929,;FERMT3,downstream_gene_variant,,ENST00000540957,;NUDT22,upstream_gene_variant,,ENST00000545184,;NUDT22,upstream_gene_variant,,ENST00000543501,;FERMT3,downstream_gene_variant,,ENST00000541326,;NUDT22,upstream_gene_variant,,ENST00000537707,;TRPT1,downstream_gene_variant,,ENST00000542040,;NUDT22,upstream_gene_variant,,ENST00000537094,;FERMT3,downstream_gene_variant,,ENST00000540554,;NUDT22,upstream_gene_variant,,ENST00000543358,;	686	35	59	SUCCESS
PPP2R5B	5526	.	GRCh37	11	64695804	64695804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	63	0	ENST00000164133.2:c.629G>A	p.Arg210His	p.R210H	ENST00000164133	NM_006244.3	210	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8085.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGTGAGT	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF028043,Pfam_domain:PF01603,hmmpanther:PTHR10257:SF4,hmmpanther:PTHR10257	.	.	ENSP00000164133	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000164133	Transcript	.	.	ENSG00000068971	9310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	2A5B_HUMAN	PPP2R5B	HGNC	E9PQN5_HUMAN,E9PNY3_HUMAN	.	UPI000000DAF4	SNV	PPP2R5B,missense_variant,p.Arg210His,ENST00000164133,;PPP2R5B,downstream_gene_variant,,ENST00000532850,;PPP2R5B,downstream_gene_variant,,ENST00000526559,;PPP2R5B,downstream_gene_variant,,ENST00000413292,;PPP2R5B,non_coding_transcript_exon_variant,,ENST00000528530,;	1251	63	70	SUCCESS
INPPL1	3636	.	GRCh37	11	71948271	71948271	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	29	0	ENST00000298229.2:c.2983C>T	p.Gln995Ter	p.Q995*	ENST00000298229	NM_001567.3	995	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS8213.1	2983	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCACCAGCTG	NONE	.	.	hmmpanther:PTHR11200:SF15,hmmpanther:PTHR11200	.	.	ENSP00000298229	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000298229	Transcript	.	.	ENSG00000165458	6080	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SHIP2_HUMAN	INPPL1	HGNC	H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN	.	UPI000013E4AF	SNV	INPPL1,stop_gained,p.Gln8Ter,ENST00000541752,;INPPL1,stop_gained,p.Gln753Ter,ENST00000538751,;INPPL1,stop_gained,p.Gln995Ter,ENST00000298229,;INPPL1,stop_gained,p.Gln753Ter,ENST00000541756,;PHOX2A,downstream_gene_variant,,ENST00000298231,;INPPL1,upstream_gene_variant,,ENST00000320683,;PHOX2A,downstream_gene_variant,,ENST00000546310,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000537755,;INPPL1,downstream_gene_variant,,ENST00000544806,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000542295,;	3187	29	29	SUCCESS
KIAA1033	0	.	GRCh37	12	105509006	105509006	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	276	67	481	0	ENST00000332180.5:c.366A>T		p.X122_splice	ENST00000332180	NM_015275.1	122	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41826.1	366	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGGTAA	NONE	.	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14745	.	.	ENSP00000328062	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000332180	Transcript	.	.	ENSG00000136051	29174	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	SNV	KIAA1033,synonymous_variant,p.%3D,ENST00000332180,;KIAA1033,splice_region_variant,,ENST00000548195,;KIAA1033,synonymous_variant,p.%3D,ENST00000550053,;KIAA1033,splice_region_variant,,ENST00000311317,;KIAA1033,splice_region_variant,,ENST00000547404,;	453	482	344	SUCCESS
CRY1	1407	.	GRCh37	12	107386611	107386611	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs749909611	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	113	0	ENST00000008527.5:c.1715A>C	p.Asp572Ala	p.D572A	ENST00000008527	NM_004075.4	572	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS9112.1	1715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGTCCTCT	NONE	.	.	hmmpanther:PTHR11455:SF16,hmmpanther:PTHR11455	.	.	ENSP00000008527	.	12/13	.	.	.	.	.	.	.	.	rs749909611	12/13	PASS	ENST00000008527	Transcript	.	.	ENSG00000008405	2384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.36)	.	CRY1_HUMAN	CRY1	HGNC	H0YHT0_HUMAN,A2I2P0_HUMAN	.	UPI0000073E80	SNV	CRY1,missense_variant,p.Asp572Ala,ENST00000008527,;CRY1,missense_variant,p.Asp92Ala,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;	2583	113	89	SUCCESS
RAD9B	144715	.	GRCh37	12	110959986	110959986	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1456277934	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	117	0	ENST00000392672.4:c.895G>A	p.Asp299Asn	p.D299N	ENST00000392672	NM_152442.3	299	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS9148.2	895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGATCTG	NONE	.	.	hmmpanther:PTHR15237,hmmpanther:PTHR15237:SF2,PIRSF_domain:PIRSF009303	.	.	ENSP00000376440	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000392672	Transcript	.	.	ENSG00000151164	21700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.18)	.	.	RAD9B	HGNC	J3KPN7_HUMAN	.	UPI00001FB1B7	SNV	RAD9B,missense_variant,p.Asp299Asn,ENST00000409300,;RAD9B,missense_variant,p.Asp227Asn,ENST00000409246,;RAD9B,missense_variant,p.Asp227Asn,ENST00000409425,;RAD9B,missense_variant,p.Asp230Asn,ENST00000409778,;RAD9B,missense_variant,p.Asp299Asn,ENST00000392672,;RAD9B,downstream_gene_variant,,ENST00000433301,;RAD9B,3_prime_UTR_variant,,ENST00000358071,;	994	117	130	SUCCESS
GUCY2C	2984	.	GRCh37	12	14774139	14774139	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	116	0	ENST00000261170.3:c.2613C>A	p.Ile871=	p.I871=	ENST00000261170	NM_004963.3	871	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8664.1	2613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGATGGT	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF41,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000261170	.	23/27	.	.	.	.	.	.	.	.	COSM1476375	23/27	PASS	ENST00000261170	Transcript	.	.	ENSG00000070019	4688	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GUC2C_HUMAN	GUCY2C	HGNC	.	.	UPI000013D135	SNV	GUCY2C,synonymous_variant,p.%3D,ENST00000261170,;RP11-695J4.2,downstream_gene_variant,,ENST00000545424,;RP11-695J4.2,downstream_gene_variant,,ENST00000542401,;	2750	116	135	SUCCESS
ACVR1B	91	.	GRCh37	12	52374781	52374781	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	31	97	1	ENST00000257963.4:c.609G>T	p.Val203=	p.V203=	ENST00000257963	NM_020328.3	203	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44894.2	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGGCCCG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00467,Pfam_domain:PF08515,Gene3D:3.30.200.20,hmmpanther:PTHR23255:SF22,hmmpanther:PTHR23255,PROSITE_profiles:PS51256	.	.	ENSP00000442656	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000541224	Transcript	.	.	ENSG00000135503	172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACV1B_HUMAN	ACVR1B	HGNC	F5H5Q2_HUMAN	.	UPI0001915052	SNV	ACVR1B,synonymous_variant,p.%3D,ENST00000415850,;ACVR1B,synonymous_variant,p.%3D,ENST00000426655,;ACVR1B,synonymous_variant,p.%3D,ENST00000541224,;ACVR1B,synonymous_variant,p.%3D,ENST00000257963,;ACVR1B,synonymous_variant,p.%3D,ENST00000542485,;ACVR1B,downstream_gene_variant,,ENST00000536420,;ACVR1B,upstream_gene_variant,,ENST00000563121,;	652	98	111	SUCCESS
ACVR1B	91	.	GRCh37	12	52374782	52374782	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	31	98	0	ENST00000257963.4:c.610G>T	p.Ala204Ser	p.A204S	ENST00000257963	NM_020328.3	204	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS44894.2	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGCCCGA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00467,Pfam_domain:PF08515,Gene3D:3.30.200.20,hmmpanther:PTHR23255:SF22,hmmpanther:PTHR23255,PROSITE_profiles:PS51256	.	.	ENSP00000442656	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000541224	Transcript	.	.	ENSG00000135503	172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ACV1B_HUMAN	ACVR1B	HGNC	F5H5Q2_HUMAN	.	UPI0001915052	SNV	ACVR1B,missense_variant,p.Ala204Ser,ENST00000415850,;ACVR1B,missense_variant,p.Ala204Ser,ENST00000426655,;ACVR1B,missense_variant,p.Ala204Ser,ENST00000541224,;ACVR1B,missense_variant,p.Ala204Ser,ENST00000257963,;ACVR1B,missense_variant,p.Ala152Ser,ENST00000542485,;ACVR1B,downstream_gene_variant,,ENST00000536420,;ACVR1B,upstream_gene_variant,,ENST00000563121,;	653	98	110	SUCCESS
KRT72	140807	.	GRCh37	12	52979897	52979897	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs34119325	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	36	0	ENST00000293745.2:c.1405G>T	p.Ala469Ser	p.A469S	ENST00000293745	NM_080747.2	469	Gcc/Tcc	0	T:0.0125	T:0.0159	.	T:0.0014	.	A	A/S	protein_coding	YES	CCDS8833.1	1405	RADIA|VARSCANS	.	TGAGGCGCCAA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239	T:0	T:0.0003	ENSP00000293745	T:0	9/9	.	.	.	.	.	.	.	.	rs34119325,COSM1362532	9/9	oxog	ENST00000293745	Transcript	.	T:0.0058	ENSG00000170486	28932	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.007)	T:0.0072	tolerated_low_confidence(0.52)	0,1	K2C72_HUMAN	KRT72	HGNC	B4DXK4_HUMAN	.	UPI0000055AC8	SNV	KRT72,missense_variant,p.Ala469Ser,ENST00000537672,;KRT72,missense_variant,p.Ala281Ser,ENST00000398066,;KRT72,missense_variant,p.Ala469Ser,ENST00000293745,;KRT72,missense_variant,p.Ala427Ser,ENST00000354310,;KRT72,3_prime_UTR_variant,,ENST00000550829,;	1491	36	61	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85450424	85450424	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	28	206	0	ENST00000393217.2:c.1853C>T	p.Ser618Leu	p.S618L	ENST00000393217	NM_001079910.1	618	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS41816.1	1853	RADIA|MUTECT|MUSE|VARSCANS	.	AACATCAGAAA	NONE	.	.	.	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Ser618Leu,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	1914	207	149	SUCCESS
SLC10A2	6555	.	GRCh37	13	103701772	103701772	+	synonymous_variant	Silent	SNP	C	C	T	rs201412654	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	80	0	ENST00000245312.3:c.786G>A	p.Thr262=	p.T262=	ENST00000245312	NM_000452.2	262	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9506.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCGTTTC	NONE	byFrequency|byCluster	.	TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19	.	.	ENSP00000245312	.	5/6	.	.	.	.	.	.	.	.	rs201412654	5/6	PASS	ENST00000245312	Transcript	.	.	ENSG00000125255	10906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTCP2_HUMAN	SLC10A2	HGNC	.	.	UPI000013CB9B	SNV	SLC10A2,synonymous_variant,p.%3D,ENST00000245312,;	1383	80	101	SUCCESS
PCDH9	5101	.	GRCh37	13	66878891	66878891	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760160903	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	71	291	0	ENST00000377865.2:c.3610C>T	p.His1204Tyr	p.H1204Y	ENST00000377865		1204	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS9444.1	3610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGGCCTT	NONE	.	.	hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027	.	.	ENSP00000442186	.	5/5	.	.	.	.	.	.	.	.	rs760160903	5/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.07)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.His1170Tyr,ENST00000328454,;PCDH9,missense_variant,p.His1204Tyr,ENST00000544246,;PCDH9,missense_variant,p.His1204Tyr,ENST00000377865,;PCDH9,missense_variant,p.His1170Tyr,ENST00000456367,;PCDH9-AS1,intron_variant,,ENST00000430861,;	4302	291	303	SUCCESS
PCDH9	5101	.	GRCh37	13	67800949	67800949	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745657830	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	35	149	0	ENST00000377865.2:c.1624G>A	p.Val542Ile	p.V542I	ENST00000377865		542	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS9444.1	1624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTACTGTAA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	rs745657830	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	tolerated(0.06)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Val542Ile,ENST00000377861,;PCDH9,missense_variant,p.Val542Ile,ENST00000328454,;PCDH9,missense_variant,p.Val542Ile,ENST00000544246,;PCDH9,missense_variant,p.Val542Ile,ENST00000377865,;PCDH9,missense_variant,p.Val542Ile,ENST00000456367,;	2316	149	121	SUCCESS
APOPT1	0	.	GRCh37	14	104040498	104040498	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	405	135	560	0	ENST00000409074.2:c.415A>G	p.Thr139Ala	p.T139A	ENST00000409074	NM_032374.3	139	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	.	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAACTGAA	NONE	.	.	Pfam_domain:PF10231	.	.	ENSP00000439065	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000472726	Transcript	.	.	ENSG00000256500	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.57)	.	.	RP11-73M18.2	Clone_based_vega_gene	Q7Z5D5_HUMAN,G3V2P7_HUMAN,E7EVH7_HUMAN	.	UPI0001AE69A1	SNV	RP11-73M18.2,missense_variant,p.Thr139Ala,ENST00000472726,;APOPT1,missense_variant,p.Thr139Ala,ENST00000409074,;APOPT1,missense_variant,p.Thr126Ala,ENST00000247618,;APOPT1,missense_variant,p.Thr101Ala,ENST00000495778,;APOPT1,missense_variant,p.Thr126Ala,ENST00000556253,;KLC1,intron_variant,,ENST00000557172,;APOPT1,intron_variant,,ENST00000440963,;AL139300.1,downstream_gene_variant,,ENST00000583855,;APOPT1,non_coding_transcript_exon_variant,,ENST00000474271,;APOPT1,non_coding_transcript_exon_variant,,ENST00000554876,;APOPT1,non_coding_transcript_exon_variant,,ENST00000477116,;APOPT1,non_coding_transcript_exon_variant,,ENST00000497901,;APOPT1,intron_variant,,ENST00000473127,;APOPT1,intron_variant,,ENST00000476323,;APOPT1,intron_variant,,ENST00000492189,;APOPT1,3_prime_UTR_variant,,ENST00000489117,;APOPT1,non_coding_transcript_exon_variant,,ENST00000554625,;APOPT1,intron_variant,,ENST00000555660,;APOPT1,intron_variant,,ENST00000458117,;	416	560	540	SUCCESS
IGHV1-3	28473	.	GRCh37	14	106471501	106471501	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs554458576	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	41	217	0	ENST00000390595.2:c.96G>T	p.Lys32Asn	p.K32N	ENST00000390595		32	aaG/aaT	0	.	T:0	.	T:0	.	A	K/N	IG_V_gene	YES	.	96	RADIA|MUTECT|MUSE	.	CCAGGCTTCTT	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	T:0	.	ENSP00000375004	T:0.001	2/2	.	.	.	.	.	.	.	.	rs554458576	2/2	PASS	ENST00000390595	Transcript	.	T:0.0002	ENSG00000211935	5552	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.246)	T:0	deleterious(0.02)	.	.	IGHV1-3	HGNC	.	.	UPI0000115FEB	SNV	IGHV1-3,missense_variant,p.Lys32Asn,ENST00000390595,;IGHVIII-2-1,upstream_gene_variant,,ENST00000518843,;	138	217	192	SUCCESS
SLC22A17	51310	.	GRCh37	14	23816360	23816360	+	synonymous_variant	Silent	SNP	G	G	A	rs771629250	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	63	0	ENST00000206544.8:c.1278C>T	p.Ala426=	p.A426=	ENST00000206544	NM_020372.2	426	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9593.1	1278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGGCAGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000380437	.	9/10	.	.	.	.	.	.	.	.	rs771629250	9/10	PASS	ENST00000397267	Transcript	.	.	ENSG00000092096	23095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AH_HUMAN	SLC22A17	HGNC	.	.	UPI0000126A49	SNV	SLC22A17,synonymous_variant,p.%3D,ENST00000354772,;SLC22A17,synonymous_variant,p.%3D,ENST00000206544,;SLC22A17,synonymous_variant,p.%3D,ENST00000397267,;SLC22A17,synonymous_variant,p.%3D,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,downstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000556803,;SLC22A17,downstream_gene_variant,,ENST00000557699,;	1741	63	59	SUCCESS
AKAP6	9472	.	GRCh37	14	33293092	33293092	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	23	0	ENST00000280979.4:c.6073A>G	p.Asn2025Asp	p.N2025D	ENST00000280979	NM_004274.4	2025	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS9644.1	6073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAAACGGA	NONE	.	.	hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	.	.	ENSP00000280979	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.06)	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,missense_variant,p.Asn2025Asp,ENST00000280979,;AKAP6,intron_variant,,ENST00000557272,;	6243	23	28	SUCCESS
JKAMP	51528	.	GRCh37	14	59965466	59965466	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	26	131	0	ENST00000261247.9:c.480T>G	p.Tyr160Ter	p.Y160*	ENST00000261247	NM_001098625.1	160	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS45116.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTATTACGC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF05571,hmmpanther:PTHR12740,hmmpanther:PTHR12740:SF3	.	.	ENSP00000261247	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000261247	Transcript	.	.	ENSG00000050130	20184	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JKAMP_HUMAN	JKAMP	HGNC	G3V372_HUMAN	.	UPI00000377AB	SNV	JKAMP,stop_gained,p.Tyr154Ter,ENST00000425728,;JKAMP,stop_gained,p.Tyr160Ter,ENST00000261247,;JKAMP,stop_gained,p.Tyr168Ter,ENST00000356057,;JKAMP,stop_gained,p.Tyr174Ter,ENST00000554271,;JKAMP,stop_gained,p.Tyr168Ter,ENST00000554795,;JKAMP,downstream_gene_variant,,ENST00000556985,;JKAMP,non_coding_transcript_exon_variant,,ENST00000554754,;RP11-701B16.2,intron_variant,,ENST00000554253,;JKAMP,downstream_gene_variant,,ENST00000557560,;JKAMP,missense_variant,p.Leu115Val,ENST00000555491,;JKAMP,non_coding_transcript_exon_variant,,ENST00000553941,;JKAMP,non_coding_transcript_exon_variant,,ENST00000602482,;JKAMP,non_coding_transcript_exon_variant,,ENST00000554721,;JKAMP,upstream_gene_variant,,ENST00000553647,;	627	131	100	SUCCESS
ELMSAN1	0	.	GRCh37	14	74189521	74189521	+	synonymous_variant	Silent	SNP	C	C	T	rs1566582614	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	80	0	ENST00000286523.5:c.2604G>A	p.Val868=	p.V868=	ENST00000286523	NM_194278.3	868	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9819.1	2604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCCACGCA	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000286523	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000286523	Transcript	.	.	ENSG00000156030	19853	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMSA1_HUMAN	ELMSAN1	HGNC	F6RU81_HUMAN,C9JYU7_HUMAN	.	UPI00001FD815	SNV	ELMSAN1,synonymous_variant,p.%3D,ENST00000435371,;ELMSAN1,synonymous_variant,p.%3D,ENST00000394071,;ELMSAN1,synonymous_variant,p.%3D,ENST00000286523,;ELMSAN1,synonymous_variant,p.%3D,ENST00000423556,;ELMSAN1,3_prime_UTR_variant,,ENST00000451078,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000476562,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000483269,;ELMSAN1,upstream_gene_variant,,ENST00000478847,;ELMSAN1,downstream_gene_variant,,ENST00000462716,;	3387	80	101	SUCCESS
NRDE2	55051	.	GRCh37	14	90764607	90764607	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752962579	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	24	0	ENST00000354366.3:c.1663C>A	p.Pro555Thr	p.P555T	ENST00000354366	NM_017970.3	555	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9890.1	1663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGGTTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13471,Pfam_domain:PF08424,Superfamily_domains:SSF48452	.	.	ENSP00000346335	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000354366	Transcript	.	.	ENSG00000119720	20186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.12)	.	NRDE2_HUMAN	NRDE2	HGNC	Q658X2_HUMAN,E9PBK4_HUMAN	.	UPI00001FD9DB	SNV	NRDE2,missense_variant,p.Pro324Thr,ENST00000357904,;NRDE2,missense_variant,p.Pro555Thr,ENST00000354366,;NRDE2,missense_variant,p.Pro134Thr,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;	1896	24	43	SUCCESS
WASH3P	374666	.	GRCh37	15	102506258	102506258	+	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	rs745716289	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	16	0	ENST00000354296.5:n.25-15G>A		p.*9*	ENST00000354296				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	GCTCCGGCTCC	NONE	byFrequency	4647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745716289	.	common_in_exac	ENST00000561145	Transcript	.	.	ENSG00000259553	38246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MIR1302-11	HGNC	.	.	.	SNV	MIR1302-11,upstream_gene_variant,,ENST00000561145,;WASH3P,non_coding_transcript_exon_variant,,ENST00000558686,;WASH3P,non_coding_transcript_exon_variant,,ENST00000557932,;WASH3P,intron_variant,,ENST00000559163,;WASH3P,intron_variant,,ENST00000559884,;WASH3P,intron_variant,,ENST00000354296,;WASH3P,upstream_gene_variant,,ENST00000558784,;WASH3P,intron_variant,,ENST00000398121,;WASH3P,intron_variant,,ENST00000338304,;WASH3P,upstream_gene_variant,,ENST00000378819,;WASH3P,upstream_gene_variant,,ENST00000560956,;	.	17	42	SUCCESS
GABRG3	2567	.	GRCh37	15	27222146	27222146	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	68	0	ENST00000333743.6:c.54-3C>A		p.X18_splice	ENST00000333743	NM_033223.4	18		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45195.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCCAGGTC	NONE	.	.	.	.	.	ENSP00000331912	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	LOW	1/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,splice_region_variant,,ENST00000555083,;GABRG3,splice_region_variant,,ENST00000333743,;GABRG3,splice_region_variant,,ENST00000553440,;	.	68	59	SUCCESS
FMN1	342184	.	GRCh37	15	33359250	33359250	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	23	98	0	ENST00000559047.1:c.2044-1975G>T		p.*682*	ENST00000559047	NM_001277313.1	279		0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45209.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCCACTG	NONE	.	.	hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8	.	.	ENSP00000333950	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.Gly279Val,ENST00000334528,;FMN1,missense_variant,p.Gly279Val,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	836	98	114	SUCCESS
CEP152	22995	.	GRCh37	15	49048388	49048388	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	47	159	1	ENST00000380950.2:c.3057T>C	p.Cys1019=	p.C1019=	ENST00000380950	NM_001194998.1	1019	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS58361.1	3057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGACAAGT	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6	.	.	ENSP00000370337	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,synonymous_variant,p.%3D,ENST00000380950,;CEP152,synonymous_variant,p.%3D,ENST00000325747,;CEP152,synonymous_variant,p.%3D,ENST00000399334,;	3245	160	184	SUCCESS
IQGAP1	8826	.	GRCh37	15	91017734	91017734	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs959006091	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	80	0	ENST00000268182.5:c.2593C>T	p.Pro865Ser	p.P865S	ENST00000268182	NM_003870.3	865	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10362.1	2593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCCTATG	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15	.	.	ENSP00000268182	.	23/38	.	.	.	.	.	.	.	.	.	23/38	PASS	ENST00000268182	Transcript	.	.	ENSG00000140575	6110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	tolerated(0.06)	.	IQGA1_HUMAN	IQGAP1	HGNC	H0YKA5_HUMAN	.	UPI000012D863	SNV	IQGAP1,missense_variant,p.Pro293Ser,ENST00000560738,;IQGAP1,missense_variant,p.Pro865Ser,ENST00000268182,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000560020,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000560733,;IQGAP1,downstream_gene_variant,,ENST00000560373,;IQGAP1,downstream_gene_variant,,ENST00000558003,;	2717	80	94	SUCCESS
VWA3A	146177	.	GRCh37	16	22149760	22149760	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	15	0	ENST00000389398.5:c.2219A>G	p.Lys740Arg	p.K740R	ENST00000389398	NM_173615.3	740	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS45441.1	2219	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAAGACAC	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105	.	.	ENSP00000374049	.	22/34	.	.	.	.	.	.	.	.	.	22/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	tolerated(0.12)	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,missense_variant,p.Lys122Arg,ENST00000563389,;VWA3A,missense_variant,p.Lys740Arg,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,downstream_gene_variant,,ENST00000568328,;VWA3A,missense_variant,p.Lys350Arg,ENST00000299840,;VWA3A,downstream_gene_variant,,ENST00000566668,;	2315	15	28	SUCCESS
CDH11	1009	.	GRCh37	16	65038672	65038672	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	31	0	ENST00000268603.4:c.101C>T	p.Ser34Phe	p.S34F	ENST00000268603	NM_001797.2	34	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS10803.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGAGGGC	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027	.	.	ENSP00000268603	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.166)	.	tolerated(0.11)	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Ser34Phe,ENST00000562882,;CDH11,missense_variant,p.Ser34Phe,ENST00000567934,;CDH11,missense_variant,p.Ser34Phe,ENST00000394156,;CDH11,missense_variant,p.Ser34Phe,ENST00000562998,;CDH11,missense_variant,p.Ser34Phe,ENST00000268603,;CDH11,missense_variant,p.Ser34Phe,ENST00000564317,;CDH11,missense_variant,p.Ser34Phe,ENST00000562712,;CDH11,intron_variant,,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000562325,;CDH11,non_coding_transcript_exon_variant,,ENST00000569624,;CDH11,downstream_gene_variant,,ENST00000568340,;CDH11,downstream_gene_variant,,ENST00000565210,;	717	31	37	SUCCESS
TAT	6898	.	GRCh37	16	71606499	71606499	+	synonymous_variant	Silent	SNP	A	A	G	rs761320051	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	22	106	0	ENST00000355962.4:c.501T>C	p.Pro167=	p.P167=	ENST00000355962	NM_000353.2	167	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS10903.1	501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAGGTCT	NONE	.	.	hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	.	.	ENSP00000348234	.	5/12	.	.	.	.	.	.	.	.	rs761320051	5/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	SNV	TAT,synonymous_variant,p.%3D,ENST00000355962,;RP11-432I5.1,intron_variant,,ENST00000561529,;TAT,downstream_gene_variant,,ENST00000566010,;TAT,upstream_gene_variant,,ENST00000564007,;TAT,downstream_gene_variant,,ENST00000566094,;	635	106	93	SUCCESS
ZNF469	84627	.	GRCh37	16	88500166	88500166	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	20	0	ENST00000437464.1:c.6204G>A	p.Leu2068=	p.L2068=	ENST00000437464	NM_001127464.1	2068	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45544.1	6204	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCACTGCTGGC	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,synonymous_variant,p.%3D,ENST00000565624,;ZNF469,synonymous_variant,p.%3D,ENST00000437464,;	6204	20	17	SUCCESS
SREBF1	6720	.	GRCh37	17	17719659	17719659	+	synonymous_variant	Silent	SNP	G	G	A	rs770190474	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	11	0	ENST00000261646.5:c.2076C>T	p.Ala692=	p.A692=	ENST00000261646	NM_004176.4	692	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS32583.1	2166	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TTGGTGGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	12/20	.	.	.	.	.	.	.	.	rs770190474	12/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,synonymous_variant,p.%3D,ENST00000338854,;SREBF1,synonymous_variant,p.%3D,ENST00000395757,;SREBF1,synonymous_variant,p.%3D,ENST00000355815,;SREBF1,synonymous_variant,p.%3D,ENST00000261646,;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,upstream_gene_variant,,ENST00000478616,;RAI1,downstream_gene_variant,,ENST00000353383,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,downstream_gene_variant,,ENST00000435530,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000490796,;SREBF1,non_coding_transcript_exon_variant,,ENST00000447641,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000470247,;	2336	11	14	SUCCESS
ALDH3A1	218	.	GRCh37	17	19645392	19645392	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376168390	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	70	1	ENST00000225740.6:c.614C>G	p.Thr205Ser	p.T205S	ENST00000225740	NM_000691.4	205	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS11212.1	614	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGGGGTCAGG	NONE	.	.	hmmpanther:PTHR11699:SF105,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.605.10,PIRSF_domain:PIRSF036492,Superfamily_domains:SSF53720	.	.	ENSP00000411821	.	4/10	.	.	.	.	.	.	.	.	rs376168390	4/10	PASS	ENST00000457500	Transcript	.	.	ENSG00000108602	405	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	AL3A1_HUMAN	ALDH3A1	HGNC	I3L4E5_HUMAN,I3L3W9_HUMAN,I3L3I9_HUMAN,I3L1H6_HUMAN,C9JMC5_HUMAN	.	UPI000013C87C	SNV	ALDH3A1,missense_variant,p.Thr205Ser,ENST00000395555,;ALDH3A1,missense_variant,p.Thr205Ser,ENST00000457500,;ALDH3A1,missense_variant,p.Thr205Ser,ENST00000225740,;ALDH3A1,missense_variant,p.Thr132Ser,ENST00000494157,;ALDH3A1,missense_variant,p.Thr205Ser,ENST00000444455,;ALDH3A1,missense_variant,p.Thr205Ser,ENST00000439102,;ALDH3A1,missense_variant,p.Thr195Ser,ENST00000426645,;ALDH3A1,downstream_gene_variant,,ENST00000574162,;ALDH3A1,downstream_gene_variant,,ENST00000570414,;ALDH3A1,downstream_gene_variant,,ENST00000573368,;RP11-311F12.2,downstream_gene_variant,,ENST00000580884,;ALDH3A1,downstream_gene_variant,,ENST00000485231,;ALDH3A1,missense_variant,p.Thr205Ser,ENST00000468746,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000485472,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000479677,;ALDH3A1,downstream_gene_variant,,ENST00000575860,;ALDH3A1,upstream_gene_variant,,ENST00000487650,;ALDH3A1,downstream_gene_variant,,ENST00000575103,;	944	71	97	SUCCESS
LGALS9B	284194	.	GRCh37	17	20354888	20354888	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	58	180	0	ENST00000423676.3:c.830C>G	p.Ala277Gly	p.A277G	ENST00000423676		277	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS42283.1	827	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGCATTC	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899	.	.	ENSP00000315564	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000324290	Transcript	.	.	ENSG00000170298	24842	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.224)	.	tolerated(0.09)	.	LEG9B_HUMAN	LGALS9B	HGNC	.	.	UPI00001AF401	SNV	LGALS9B,missense_variant,p.Ala277Gly,ENST00000423676,;LGALS9B,missense_variant,p.Ala276Gly,ENST00000324290,;NOS2P3,downstream_gene_variant,,ENST00000458685,;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,downstream_gene_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000584703,;LGALS9B,downstream_gene_variant,,ENST00000581490,;NOS2P3,downstream_gene_variant,,ENST00000411468,;	892	180	186	SUCCESS
LGALS9	3965	.	GRCh37	17	25967778	25967778	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	38	167	1	ENST00000395473.2:c.312G>T	p.Leu104=	p.L104=	ENST00000395473	NM_009587.2	104	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11222.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGGTGCA	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000378856	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000395473	Transcript	.	.	ENSG00000168961	6570	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LEG9_HUMAN	LGALS9	HGNC	K7EPS0_HUMAN	.	UPI000012E437	SNV	LGALS9,synonymous_variant,p.%3D,ENST00000413914,;LGALS9,synonymous_variant,p.%3D,ENST00000577392,;LGALS9,synonymous_variant,p.%3D,ENST00000395473,;LGALS9,synonymous_variant,p.%3D,ENST00000584661,;LGALS9,synonymous_variant,p.%3D,ENST00000313648,;LGALS9,synonymous_variant,p.%3D,ENST00000581710,;LGALS9,synonymous_variant,p.%3D,ENST00000302228,;LGALS9,synonymous_variant,p.%3D,ENST00000310394,;LGALS9,upstream_gene_variant,,ENST00000578944,;LGALS9,non_coding_transcript_exon_variant,,ENST00000448970,;AC015688.3,3_prime_UTR_variant,,ENST00000584605,;LGALS9,3_prime_UTR_variant,,ENST00000580779,;LGALS9,3_prime_UTR_variant,,ENST00000467111,;LGALS9,non_coding_transcript_exon_variant,,ENST00000584386,;LGALS9,non_coding_transcript_exon_variant,,ENST00000579930,;LGALS9,non_coding_transcript_exon_variant,,ENST00000583671,;LGALS9,downstream_gene_variant,,ENST00000579402,;LGALS9,upstream_gene_variant,,ENST00000486774,;LGALS9,upstream_gene_variant,,ENST00000481514,;AC015688.3,downstream_gene_variant,,ENST00000579290,;	1780	168	192	SUCCESS
PROCA1	147011	.	GRCh37	17	27038628	27038628	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	55	0	ENST00000301039.2:c.51C>A	p.Thr17=	p.T17=	ENST00000301039	NM_152465.1	17	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11239.1	51	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCGGTCTT	NONE	.	.	.	.	.	ENSP00000301039	.	1/4	.	.	.	.	.	.	.	.	.	1/4	oxog	ENST00000301039	Transcript	.	.	ENSG00000167525	28600	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRCA1_HUMAN	PROCA1	HGNC	K7ESJ9_HUMAN	.	UPI000006D0EE	SNV	PROCA1,synonymous_variant,p.%3D,ENST00000581289,;PROCA1,synonymous_variant,p.%3D,ENST00000301039,;RAB34,downstream_gene_variant,,ENST00000583538,;RAB34,downstream_gene_variant,,ENST00000430132,;RAB34,downstream_gene_variant,,ENST00000301043,;RAB34,downstream_gene_variant,,ENST00000419712,;RAB34,downstream_gene_variant,,ENST00000395242,;PROCA1,upstream_gene_variant,,ENST00000439862,;RAB34,downstream_gene_variant,,ENST00000395243,;RAB34,downstream_gene_variant,,ENST00000415040,;RAB34,downstream_gene_variant,,ENST00000395245,;RAB34,downstream_gene_variant,,ENST00000436730,;RAB34,downstream_gene_variant,,ENST00000353676,;RAB34,downstream_gene_variant,,ENST00000580843,;RAB34,downstream_gene_variant,,ENST00000447716,;PROCA1,upstream_gene_variant,,ENST00000415329,;RAB34,downstream_gene_variant,,ENST00000412625,;RAB34,downstream_gene_variant,,ENST00000450529,;RAB34,downstream_gene_variant,,ENST00000453384,;PROCA1,upstream_gene_variant,,ENST00000578097,;PROCA1,upstream_gene_variant,,ENST00000422880,;PROCA1,upstream_gene_variant,,ENST00000579650,;PROCA1,synonymous_variant,p.%3D,ENST00000473751,;PROCA1,upstream_gene_variant,,ENST00000495203,;RAB34,downstream_gene_variant,,ENST00000481501,;RAB34,downstream_gene_variant,,ENST00000496866,;RAB34,downstream_gene_variant,,ENST00000474704,;RAB34,downstream_gene_variant,,ENST00000422279,;RAB34,downstream_gene_variant,,ENST00000483554,;RAB34,downstream_gene_variant,,ENST00000484161,;	245	55	74	SUCCESS
AKAP1	8165	.	GRCh37	17	55187484	55187484	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	56	0	ENST00000337714.3:c.1813G>T	p.Val605Phe	p.V605F	ENST00000337714	NM_003488.3	605	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS11594.1	1813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGTCGAC	NONE	.	.	hmmpanther:PTHR12727,Superfamily_domains:SSF54791	.	.	ENSP00000337736	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000337714	Transcript	.	.	ENSG00000121057	367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	deleterious(0.04)	.	AKAP1_HUMAN	AKAP1	HGNC	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN	.	UPI0000125778	SNV	AKAP1,missense_variant,p.Val605Phe,ENST00000571629,;AKAP1,missense_variant,p.Val605Phe,ENST00000337714,;AKAP1,missense_variant,p.Val605Phe,ENST00000572557,;AKAP1,missense_variant,p.Val605Phe,ENST00000539273,;AKAP1,missense_variant,p.Val181Phe,ENST00000576295,;AKAP1,downstream_gene_variant,,ENST00000314126,;AKAP1,downstream_gene_variant,,ENST00000575322,;AKAP1,downstream_gene_variant,,ENST00000574683,;AKAP1,downstream_gene_variant,,ENST00000575186,;AKAP1,downstream_gene_variant,,ENST00000576591,;AKAP1,downstream_gene_variant,,ENST00000573085,;AKAP1,downstream_gene_variant,,ENST00000572156,;AKAP1,upstream_gene_variant,,ENST00000575032,;AKAP1,downstream_gene_variant,,ENST00000572814,;AKAP1,downstream_gene_variant,,ENST00000570423,;AKAP1,missense_variant,p.Val187Phe,ENST00000573326,;AKAP1,3_prime_UTR_variant,,ENST00000481416,;	2046	56	53	SUCCESS
CACNG4	27092	.	GRCh37	17	65026740	65026740	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778392195	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	69	0	ENST00000262138.3:c.604G>T	p.Ala202Ser	p.A202S	ENST00000262138	NM_014405.3	202	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11667.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGCTGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7,Pfam_domain:PF00822	.	.	ENSP00000262138	.	4/4	.	.	.	.	.	.	.	.	rs778392195	4/4	PASS	ENST00000262138	Transcript	.	.	ENSG00000075461	1408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.16)	.	CCG4_HUMAN	CACNG4	HGNC	.	.	UPI0000001649	SNV	CACNG4,missense_variant,p.Ala202Ser,ENST00000262138,;AC005544.1,upstream_gene_variant,,ENST00000375684,;RP11-74H8.1,downstream_gene_variant,,ENST00000579138,;	606	70	75	SUCCESS
FBF1	85302	.	GRCh37	17	73919636	73919636	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	88	0	ENST00000586717.1:c.1013C>G	p.Pro338Arg	p.P338R	ENST00000586717		338	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS45779.1	1010	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGCTGG	NONE	.	.	.	.	.	ENSP00000324292	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.14)	.	tolerated(0.16)	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,missense_variant,p.Pro337Arg,ENST00000319129,;FBF1,missense_variant,p.Pro338Arg,ENST00000586717,;FBF1,missense_variant,p.Pro352Arg,ENST00000592193,;FBF1,missense_variant,p.Pro338Arg,ENST00000389570,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;FBF1,upstream_gene_variant,,ENST00000586838,;	1284	88	79	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14850260	14850260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	241	73	360	0	ENST00000358984.4:c.3086T>C	p.Leu1029Ser	p.L1029S	ENST00000358984	NM_001145029.1	1029	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS54182.1	3086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTAAAAG	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147	.	.	ENSP00000351875	.	35/36	.	.	.	.	.	.	.	.	.	35/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,missense_variant,p.Leu1029Ser,ENST00000358984,;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	3266	360	314	SUCCESS
TRAPPC8	22878	.	GRCh37	18	29470774	29470774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	138	0	ENST00000283351.4:c.1652A>G	p.Asn551Ser	p.N551S	ENST00000283351	NM_014939.3	551	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS11901.1	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGTTTATA	NONE	.	.	hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6,Gene3D:1.25.40.10,Pfam_domain:PF12739,Superfamily_domains:SSF48452	.	.	ENSP00000283351	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000283351	Transcript	.	.	ENSG00000153339	29169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	tolerated(0.09)	.	TPPC8_HUMAN	TRAPPC8	HGNC	J3QQJ5_HUMAN,J3QKL6_HUMAN	.	UPI0000052E22	SNV	TRAPPC8,missense_variant,p.Asn497Ser,ENST00000582539,;TRAPPC8,missense_variant,p.Asn551Ser,ENST00000582513,;TRAPPC8,missense_variant,p.Asn551Ser,ENST00000283351,;TRAPPC8,5_prime_UTR_variant,,ENST00000577474,;TRAPPC8,missense_variant,p.Asn551Ser,ENST00000580104,;	1988	138	98	SUCCESS
MBD1	4152	.	GRCh37	18	47800056	47800056	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	72	0	ENST00000269468.5:c.1324G>T	p.Glu442Ter	p.E442*	ENST00000269468	NM_015846.3	442	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS59320.1	1324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCCTGCT	NONE	.	.	hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF4	.	.	ENSP00000468785	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000590208	Transcript	.	.	ENSG00000141644	6916	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MBD1	HGNC	K7ESN0_HUMAN	.	UPI0001F995B6	SNV	MBD1,stop_gained,p.Glu419Ter,ENST00000588937,;MBD1,stop_gained,p.Glu386Ter,ENST00000587605,;MBD1,stop_gained,p.Glu419Ter,ENST00000269471,;MBD1,stop_gained,p.Glu231Ter,ENST00000589733,;MBD1,stop_gained,p.Glu92Ter,ENST00000589541,;MBD1,stop_gained,p.Glu467Ter,ENST00000585595,;MBD1,stop_gained,p.Glu386Ter,ENST00000347968,;MBD1,stop_gained,p.Glu442Ter,ENST00000269468,;MBD1,stop_gained,p.Glu419Ter,ENST00000591535,;MBD1,stop_gained,p.Glu411Ter,ENST00000398495,;MBD1,stop_gained,p.Glu287Ter,ENST00000592060,;MBD1,stop_gained,p.Glu442Ter,ENST00000590208,;MBD1,stop_gained,p.Glu442Ter,ENST00000339998,;MBD1,stop_gained,p.Glu386Ter,ENST00000398493,;MBD1,stop_gained,p.Glu392Ter,ENST00000585672,;MBD1,stop_gained,p.Glu467Ter,ENST00000457839,;MBD1,stop_gained,p.Glu419Ter,ENST00000436910,;MBD1,stop_gained,p.Glu393Ter,ENST00000353909,;MBD1,stop_gained,p.Glu386Ter,ENST00000349085,;MBD1,stop_gained,p.Glu442Ter,ENST00000382948,;MBD1,stop_gained,p.Glu442Ter,ENST00000591416,;MBD1,stop_gained,p.Glu386Ter,ENST00000398488,;MBD1,stop_gained,p.Glu493Ter,ENST00000424334,;MBD1,downstream_gene_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,downstream_gene_variant,,ENST00000586679,;MBD1,downstream_gene_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000590215,;MBD1,downstream_gene_variant,,ENST00000586118,;	1671	73	81	SUCCESS
C3P1	388503	.	GRCh37	19	10166314	10166314	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs750920150	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	54	136	0	ENST00000497718.1:n.2758G>T		p.*920*	ENST00000497718				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATGATGAC	NONE	.	.	.	.	.	.	.	23/37	.	.	.	.	.	.	.	.	rs750920150	23/37	PASS	ENST00000497718	Transcript	.	.	ENSG00000167798	34414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C3P1	HGNC	.	.	.	SNV	C3P1,non_coding_transcript_exon_variant,,ENST00000495140,;C3P1,non_coding_transcript_exon_variant,,ENST00000497718,;	2758	136	198	SUCCESS
MAN2B1	4125	.	GRCh37	19	12776599	12776599	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	55	0	ENST00000456935.2:c.180G>C	p.Pro60=	p.P60=	ENST00000456935	NM_000528.3	60	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32919.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCGGCTG	NONE	.	.	hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607,Gene3D:3.20.110.10,Superfamily_domains:SSF88713	.	.	ENSP00000395473	.	2/24	.	.	.	.	.	.	.	.	COSM1390615	2/24	PASS	ENST00000456935	Transcript	1	.	ENSG00000104774	6826	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MA2B1_HUMAN	MAN2B1	HGNC	B4E0K9_HUMAN	.	UPI00000559EC	SNV	MAN2B1,synonymous_variant,p.%3D,ENST00000598876,;MAN2B1,synonymous_variant,p.%3D,ENST00000221363,;CTD-2192J16.24,synonymous_variant,p.%3D,ENST00000597961,;MAN2B1,synonymous_variant,p.%3D,ENST00000456935,;MAN2B1,intron_variant,,ENST00000486847,;WDR83,upstream_gene_variant,,ENST00000242796,;WDR83OS,downstream_gene_variant,,ENST00000222190,;WDR83OS,downstream_gene_variant,,ENST00000598732,;WDR83OS,downstream_gene_variant,,ENST00000596731,;WDR83,upstream_gene_variant,,ENST00000418543,;WDR83,upstream_gene_variant,,ENST00000547797,;MAN2B1,intron_variant,,ENST00000596512,;WDR83OS,downstream_gene_variant,,ENST00000600694,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000600281,;WDR83,upstream_gene_variant,,ENST00000546754,;WDR83,upstream_gene_variant,,ENST00000548381,;WDR83,upstream_gene_variant,,ENST00000547255,;MAN2B1,upstream_gene_variant,,ENST00000462144,;WDR83,upstream_gene_variant,,ENST00000550939,;WDR83,upstream_gene_variant,,ENST00000547481,;WDR83,upstream_gene_variant,,ENST00000551329,;WDR83,upstream_gene_variant,,ENST00000553179,;WDR83,upstream_gene_variant,,ENST00000425834,;	221	56	85	SUCCESS
C19orf77	0	.	GRCh37	19	3474916	3474916	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	61	232	0	ENST00000215531.4:c.318A>C	p.Gly106=	p.G106=	ENST00000215531	NM_001136503.1	106	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS45915.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTCCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15296:SF2,hmmpanther:PTHR15296	.	.	ENSP00000215531	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000215531	Transcript	.	.	ENSG00000095932	37244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS077_HUMAN	C19orf77	HGNC	K7EKM7_HUMAN	.	UPI000015B2DA	SNV	C19orf77,synonymous_variant,p.%3D,ENST00000215531,;C19orf77,synonymous_variant,p.%3D,ENST00000587847,;C19orf77,synonymous_variant,p.%3D,ENST00000591708,;C19orf77,downstream_gene_variant,,ENST00000586804,;	397	232	212	SUCCESS
FPR3	2359	.	GRCh37	19	52327451	52327451	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	127	0	ENST00000339223.4:c.450G>C	p.Trp150Cys	p.W150C	ENST00000339223	NM_002030.3	150	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS12841.1	450	MUTECT|MUSE	.	CTCTGGATTTT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,PROSITE_profiles:PS50262	.	.	ENSP00000341821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339223	Transcript	.	.	ENSG00000187474	3828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FPR3_HUMAN	FPR3	HGNC	Q6L5J4_HUMAN	.	UPI000011DFC1	SNV	FPR3,missense_variant,p.Trp150Cys,ENST00000339223,;FPR3,missense_variant,p.Trp150Cys,ENST00000595991,;	629	127	151	SUCCESS
ZNF28	7576	.	GRCh37	19	53304147	53304147	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	27	102	0	ENST00000457749.2:c.951T>A	p.His317Gln	p.H317Q	ENST00000457749	NM_006969.3	317	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS33093.2	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTATGTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,missense_variant,p.His264Gln,ENST00000391783,;ZNF28,missense_variant,p.His264Gln,ENST00000360272,;ZNF28,missense_variant,p.His317Gln,ENST00000457749,;ZNF28,missense_variant,p.His264Gln,ENST00000414252,;ZNF28,missense_variant,p.His264Gln,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;	1071	102	112	SUCCESS
SAFB	6294	.	GRCh37	19	5653399	5653399	+	synonymous_variant	Silent	SNP	C	C	T	rs749049469	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	124	0	ENST00000292123.5:c.1494C>T	p.Asp498=	p.D498=	ENST00000292123	NM_002967.3	498	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS59339.1	1494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACGGGAA	NONE	byFrequency	.	hmmpanther:PTHR15683:SF6,hmmpanther:PTHR15683	.	.	ENSP00000467423	.	11/21	.	.	.	.	.	.	.	.	rs749049469	11/21	PASS	ENST00000588852	Transcript	.	.	ENSG00000160633	10520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAFB1_HUMAN	SAFB	HGNC	Q68DW3_HUMAN,F5GZU3_HUMAN	.	UPI0000E5BE82	SNV	SAFB,synonymous_variant,p.%3D,ENST00000588852,;SAFB,synonymous_variant,p.%3D,ENST00000454510,;SAFB,synonymous_variant,p.%3D,ENST00000292123,;SAFB,synonymous_variant,p.%3D,ENST00000538656,;SAFB,synonymous_variant,p.%3D,ENST00000433404,;SAFB,synonymous_variant,p.%3D,ENST00000592224,;SAFB,upstream_gene_variant,,ENST00000589006,;SAFB,downstream_gene_variant,,ENST00000586934,;SAFB,3_prime_UTR_variant,,ENST00000589863,;SAFB,non_coding_transcript_exon_variant,,ENST00000592396,;SAFB,downstream_gene_variant,,ENST00000590485,;SAFB,downstream_gene_variant,,ENST00000592707,;	1547	124	165	SUCCESS
POLRMT	5442	.	GRCh37	19	621784	621784	+	synonymous_variant	Silent	SNP	C	C	A	rs766877795	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	21	0	ENST00000588649.2:c.1914G>T	p.Thr638=	p.T638=	ENST00000588649	NM_005035.3	638	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12036.1	1914	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCGTGGG	NONE	.	.	hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102,Gene3D:1mswD01,Pfam_domain:PF14700,Superfamily_domains:SSF56672	.	.	ENSP00000465759	.	10/21	.	.	.	.	.	.	.	.	rs766877795	10/21	oxog	ENST00000588649	Transcript	.	.	ENSG00000099821	9200	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPOM_HUMAN	POLRMT	HGNC	.	.	UPI000013C68E	SNV	POLRMT,synonymous_variant,p.%3D,ENST00000588649,;HCN2,downstream_gene_variant,,ENST00000251287,;POLRMT,upstream_gene_variant,,ENST00000590336,;POLRMT,downstream_gene_variant,,ENST00000590573,;LLNLR-299G3.1,upstream_gene_variant,,ENST00000607288,;AC005559.2,upstream_gene_variant,,ENST00000591847,;POLRMT,non_coding_transcript_exon_variant,,ENST00000586384,;POLRMT,downstream_gene_variant,,ENST00000588630,;POLRMT,upstream_gene_variant,,ENST00000592633,;POLRMT,upstream_gene_variant,,ENST00000589961,;POLRMT,upstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000590709,;	1999	21	25	SUCCESS
TNFSF14	8740	.	GRCh37	19	6670048	6670048	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	78	0	ENST00000599359.1:c.33T>C	p.Phe11=	p.F11=	ENST00000599359		11	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS12171.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAAACAC	NONE	.	.	hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF22	.	.	ENSP00000469049	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000599359	Transcript	.	.	ENSG00000125735	11930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNF14_HUMAN	TNFSF14	HGNC	.	.	UPI000013CBC2	SNV	TNFSF14,synonymous_variant,p.%3D,ENST00000599359,;TNFSF14,synonymous_variant,p.%3D,ENST00000245912,;TNFSF14,synonymous_variant,p.%3D,ENST00000326176,;	415	78	72	SUCCESS
ELAVL1	1994	.	GRCh37	19	8038704	8038704	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	103	0	ENST00000351593.5:c.416G>T	p.Gly139Val	p.G139V	ENST00000351593		139	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12193.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCGCTG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF228,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01661,SMART_domains:SM00360,Superfamily_domains:SSF54928,Prints_domain:PR00961	.	.	ENSP00000385269	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000407627	Transcript	.	.	ENSG00000066044	3312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ELAV1_HUMAN	ELAVL1	HGNC	.	.	UPI0000129E74	SNV	ELAVL1,missense_variant,p.Gly139Val,ENST00000351593,;ELAVL1,missense_variant,p.Gly112Val,ENST00000593807,;ELAVL1,missense_variant,p.Gly112Val,ENST00000407627,;ELAVL1,missense_variant,p.Gly112Val,ENST00000596459,;ELAVL1,missense_variant,p.Gly30Val,ENST00000596154,;ELAVL1,upstream_gene_variant,,ENST00000595499,;	465	103	103	SUCCESS
ZNF812	0	.	GRCh37	19	9801514	9801514	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	95	0	ENST00000457674.2:c.665A>G	p.Lys222Arg	p.K222R	ENST00000457674	NM_001199814.1	222	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS54215.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCTTTTTA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF57667,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF199	.	.	ENSP00000395629	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000457674	Transcript	.	.	ENSG00000224689	33242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.1)	.	ZN812_HUMAN	ZNF812	HGNC	K7EN74_HUMAN,K7EK89_HUMAN	.	UPI0000E5A1A5	SNV	ZNF812,missense_variant,p.Lys222Arg,ENST00000457674,;ZNF812,downstream_gene_variant,,ENST00000590544,;ZNF812,downstream_gene_variant,,ENST00000585964,;ZNF812,non_coding_transcript_exon_variant,,ENST00000536819,;	1184	95	78	SUCCESS
IGSF3	3321	.	GRCh37	1	117158700	117158700	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	68	254	0	ENST00000369486.3:c.421+2T>A		p.X141_splice	ENST00000369486	NM_001007237.2	141		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30814.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTACCCAC	NONE	.	.	.	.	.	ENSP00000358495	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	HIGH	3/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,splice_donor_variant,,ENST00000318837,;IGSF3,splice_donor_variant,,ENST00000369486,;IGSF3,splice_donor_variant,,ENST00000369483,;IGSF3,downstream_gene_variant,,ENST00000481589,;	.	254	294	SUCCESS
VTCN1	79679	.	GRCh37	1	117699311	117699311	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	105	0	ENST00000369458.3:c.330T>C	p.Val110=	p.V110=	ENST00000369458	NM_024626.3	110	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS894.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCAACTAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF0,hmmpanther:PTHR24100,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358470	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000369458	Transcript	.	.	ENSG00000134258	28873	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VTCN1_HUMAN	VTCN1	HGNC	.	.	UPI00000389E3	SNV	VTCN1,synonymous_variant,p.%3D,ENST00000359008,;VTCN1,synonymous_variant,p.%3D,ENST00000539893,;VTCN1,synonymous_variant,p.%3D,ENST00000369458,;VTCN1,intron_variant,,ENST00000328189,;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,non_coding_transcript_exon_variant,,ENST00000488493,;	409	105	122	SUCCESS
UBE2J2	118424	.	GRCh37	1	1190842	1190842	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	56	206	0	ENST00000349431.6:c.521A>T	p.Gln174Leu	p.Q174L	ENST00000349431	NM_058167.2	174	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS15.1	569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTTGTGCT	NONE	.	.	hmmpanther:PTHR24067:SF42,hmmpanther:PTHR24067	.	.	ENSP00000383719	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000400930	Transcript	.	.	ENSG00000160087	19268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.09)	.	UB2J2_HUMAN	UBE2J2	HGNC	D6REN4_HUMAN,D6RD90_HUMAN,D6R9H0_HUMAN,B1AMF1_HUMAN,A6NGS0_HUMAN	.	UPI00001D69F8	SNV	UBE2J2,missense_variant,p.Gln139Leu,ENST00000339385,;UBE2J2,missense_variant,p.Gln174Leu,ENST00000349431,;UBE2J2,missense_variant,p.Gln53Leu,ENST00000509720,;UBE2J2,missense_variant,p.Gln122Leu,ENST00000348298,;UBE2J2,missense_variant,p.Gln122Leu,ENST00000347370,;UBE2J2,missense_variant,p.Gln190Leu,ENST00000400930,;UBE2J2,missense_variant,p.Gln122Leu,ENST00000400929,;UBE2J2,missense_variant,p.Gln174Leu,ENST00000360466,;UBE2J2,missense_variant,p.Gln174Leu,ENST00000435198,;UBE2J2,downstream_gene_variant,,ENST00000502382,;UBE2J2,downstream_gene_variant,,ENST00000422076,;RP5-902P8.12,upstream_gene_variant,,ENST00000565563,;UBE2J2,non_coding_transcript_exon_variant,,ENST00000467339,;UBE2J2,downstream_gene_variant,,ENST00000491779,;UBE2J2,3_prime_UTR_variant,,ENST00000473215,;UBE2J2,3_prime_UTR_variant,,ENST00000464036,;UBE2J2,3_prime_UTR_variant,,ENST00000450390,;UBE2J2,downstream_gene_variant,,ENST00000477894,;UBE2J2,downstream_gene_variant,,ENST00000503294,;UBE2J2,downstream_gene_variant,,ENST00000471154,;UBE2J2,downstream_gene_variant,,ENST00000466752,;	737	206	211	SUCCESS
PGLYRP3	114771	.	GRCh37	1	153279733	153279733	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	32	0	ENST00000290722.1:c.66C>T	p.Thr22=	p.T22=	ENST00000290722	NM_052891.1	22	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1035.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGATGGTGGG	NONE	.	.	hmmpanther:PTHR11022:SF28,hmmpanther:PTHR11022,Gene3D:3.40.80.10,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000290722	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000290722	Transcript	.	.	ENSG00000159527	30014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGRP3_HUMAN	PGLYRP3	HGNC	.	.	UPI000006F12B	SNV	PGLYRP3,synonymous_variant,p.%3D,ENST00000290722,;	119	32	42	SUCCESS
NOS1AP	9722	.	GRCh37	1	162337003	162337003	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	34	0	ENST00000361897.5:c.1267G>T	p.Asp423Tyr	p.D423Y	ENST00000361897	NM_014697.2	423	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1237.1	1267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGACTGC	NONE	.	.	hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39	.	.	ENSP00000355133	.	10/10	.	.	.	.	.	.	.	.	CM104094	10/10	PASS	ENST00000361897	Transcript	.	.	ENSG00000198929	16859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.577)	.	deleterious_low_confidence(0.02)	.	CAPON_HUMAN	NOS1AP	HGNC	H7BY61_HUMAN,E9PIP8_HUMAN	.	UPI000019C573	SNV	NOS1AP,missense_variant,p.Asp128Tyr,ENST00000493151,;NOS1AP,missense_variant,p.Asp418Tyr,ENST00000530878,;NOS1AP,missense_variant,p.Asp79Tyr,ENST00000464284,;NOS1AP,missense_variant,p.Asp423Tyr,ENST00000361897,;RP11-565P22.6,intron_variant,,ENST00000431696,;C1orf226,intron_variant,,ENST00000420220,;NOS1AP,non_coding_transcript_exon_variant,,ENST00000454693,;NOS1AP,3_prime_UTR_variant,,ENST00000430120,;NOS1AP,upstream_gene_variant,,ENST00000367932,;	1669	34	37	SUCCESS
PADI2	11240	.	GRCh37	1	17402191	17402191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	21	0	ENST00000375486.4:c.1438C>T	p.Pro480Ser	p.P480S	ENST00000375486	NM_007365.2	480	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS177.1	1438	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GATGGGGACAA	NONE	.	.	hmmpanther:PTHR10837:SF1,hmmpanther:PTHR10837,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364635	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000375486	Transcript	.	.	ENSG00000117115	18341	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.687)	.	deleterious(0)	.	PADI2_HUMAN	PADI2	HGNC	Q96DA7_HUMAN	.	UPI00001314AF	SNV	PADI2,missense_variant,p.Pro480Ser,ENST00000375486,;PADI2,missense_variant,p.Pro364Ser,ENST00000444885,;PADI2,downstream_gene_variant,,ENST00000375481,;PADI2,non_coding_transcript_exon_variant,,ENST00000466151,;PADI2,upstream_gene_variant,,ENST00000479534,;	1502	21	39	SUCCESS
RCC2	55920	.	GRCh37	1	17740138	17740138	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	29	99	0	ENST00000375433.3:c.1102A>G	p.Lys368Glu	p.K368E	ENST00000375433	NM_001136204.2	368	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS181.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTCTGCT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF146,Pfam_domain:PF00415,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000364585	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000375436	Transcript	.	.	ENSG00000179051	30297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.589)	.	deleterious(0)	.	RCC2_HUMAN	RCC2	HGNC	.	.	UPI0000074608	SNV	RCC2,missense_variant,p.Lys368Glu,ENST00000375436,;RCC2,missense_variant,p.Lys368Glu,ENST00000375433,;AC004824.1,mature_miRNA_variant,,ENST00000583469,;RCC2,upstream_gene_variant,,ENST00000474892,;	1290	99	114	SUCCESS
KIF21B	23046	.	GRCh37	1	200973575	200973575	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	52	0	ENST00000422435.2:c.909G>T	p.Leu303Phe	p.L303F	ENST00000422435	NM_001252100.1	303	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS58056.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCAAGGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000411831	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,missense_variant,p.Leu303Phe,ENST00000422435,;KIF21B,missense_variant,p.Leu303Phe,ENST00000360529,;KIF21B,missense_variant,p.Leu303Phe,ENST00000461742,;KIF21B,missense_variant,p.Leu303Phe,ENST00000332129,;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;	1226	52	83	SUCCESS
ZC3H11A	9877	.	GRCh37	1	203816541	203816541	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	33	154	0	ENST00000332127.4:c.1272A>C	p.Lys424Asn	p.K424N	ENST00000332127		424	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS30978.1	1272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAAAGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2	.	.	ENSP00000438527	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000545588	Transcript	.	.	ENSG00000058673	29093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	deleterious(0.01)	.	ZC11A_HUMAN	ZC3H11A	HGNC	E9PBY7_HUMAN,C9J0L0_HUMAN,B4DLG2_HUMAN	.	UPI000006F3FD	SNV	ZC3H11A,missense_variant,p.Lys424Asn,ENST00000367212,;ZC3H11A,missense_variant,p.Lys424Asn,ENST00000453771,;ZC3H11A,missense_variant,p.Lys424Asn,ENST00000367210,;ZC3H11A,missense_variant,p.Lys424Asn,ENST00000367214,;ZC3H11A,missense_variant,p.Lys424Asn,ENST00000545588,;ZC3H11A,missense_variant,p.Lys424Asn,ENST00000332127,;ZC3H11A,upstream_gene_variant,,ENST00000488411,;ZC3H11A,missense_variant,p.Lys424Asn,ENST00000495527,;	5099	154	149	SUCCESS
USH2A	7399	.	GRCh37	1	215916665	215916665	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763057404	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	23	0	ENST00000307340.3:c.11402C>T	p.Pro3801Leu	p.P3801L	ENST00000307340	NM_206933.2	3801	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31025.1	11402	SOMATICSNIPER|MUTECT|MUSE	.	TTTCGGGGATG	BUFFER|p.P3804S|c.11410C>T|5,BUFFER|p.P3804S|c.11410C>T|4	byFrequency	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	59/72	.	.	.	.	.	.	.	.	rs763057404,COSM3976976,COSM3976977	59/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	benign(0.055)	.	.	0,1,1	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Pro3801Leu,ENST00000366943,;USH2A,missense_variant,p.Pro3801Leu,ENST00000307340,;	11789	23	35	SUCCESS
USH2A	7399	.	GRCh37	1	216062251	216062251	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	84	0	ENST00000307340.3:c.7740A>T	p.Gly2580=	p.G2580=	ENST00000307340	NM_206933.2	2580	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31025.1	7740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTCCAGG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	41/72	.	.	.	.	.	.	.	.	.	41/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;RP5-1111A8.3,intron_variant,,ENST00000414995,;	8127	84	98	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227316906	227316908	+	inframe_deletion	In_Frame_Del	DEL	GCA	GCA	-	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	GCA	GCA	.	.	.	.	.	.	.	.	.	.	.	.	.	271	103	490	0	ENST00000334218.5:c.1415_1417del	p.Leu472del	p.L472del	ENST00000334218		472	cTGCag/cag	0	.	.	.	.	.	-	LQ/Q	protein_coding	YES	CCDS1558.1	1415-1417	INDELOCATOR*|VARSCANI*|PINDEL	.	AATACTGCAGAGCT	NONE	.	.	hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31	.	.	ENSP00000355731	.	11/36	.	.	.	.	.	.	.	.	.	11/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	deletion	CDC42BPA,inframe_deletion,p.Leu472del,ENST00000366769,;CDC42BPA,inframe_deletion,p.Leu472del,ENST00000366765,;CDC42BPA,inframe_deletion,p.Leu472del,ENST00000366764,;CDC42BPA,inframe_deletion,p.Leu472del,ENST00000334218,;CDC42BPA,inframe_deletion,p.Leu472del,ENST00000366767,;CDC42BPA,inframe_deletion,p.Leu472del,ENST00000535525,;CDC42BPA,inframe_deletion,p.Leu472del,ENST00000366766,;	2707-2709	490	374	SUCCESS
RYR2	6262	.	GRCh37	1	237923107	237923107	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	37	130	0	ENST00000366574.2:c.11357A>C	p.Asp3786Ala	p.D3786A	ENST00000366574	NM_001035.2	3786	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS55691.1	11357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGATGTGG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	83/105	.	.	.	.	.	.	.	.	.	83/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Asp3770Ala,ENST00000542537,;RYR2,missense_variant,p.Asp3786Ala,ENST00000366574,;RYR2,missense_variant,p.Asp3792Ala,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	11674	130	151	SUCCESS
NLRP3	114548	.	GRCh37	1	247582364	247582364	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	13	0	ENST00000336119.3:c.268G>T	p.Asp90Tyr	p.D90Y	ENST00000336119	NM_001127462.2	90	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1632.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAGATGAG	NONE	.	.	Superfamily_domains:SSF47986,Gene3D:1.10.533.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,PROSITE_profiles:PS50824	.	.	ENSP00000337383	.	1/9	.	.	.	.	.	.	.	.	COSM3486578	1/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.77)	.	deleterious(0)	1	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.Asp90Tyr,ENST00000366496,;NLRP3,missense_variant,p.Asp90Tyr,ENST00000336119,;NLRP3,missense_variant,p.Asp90Tyr,ENST00000391827,;NLRP3,missense_variant,p.Asp90Tyr,ENST00000366497,;NLRP3,missense_variant,p.Asp90Tyr,ENST00000391828,;NLRP3,missense_variant,p.Asp90Tyr,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	1014	13	18	SUCCESS
COL16A1	1307	.	GRCh37	1	32151294	32151294	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	30	96	0	ENST00000373672.3:c.1962A>C	p.Pro654=	p.P654=	ENST00000373672	NM_001856.3	654	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41297.1	1962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGATGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	29/71	.	.	.	.	.	.	.	.	.	29/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,synonymous_variant,p.%3D,ENST00000373672,;COL16A1,synonymous_variant,p.%3D,ENST00000271069,;COL16A1,synonymous_variant,p.%3D,ENST00000373668,;COL16A1,upstream_gene_variant,,ENST00000458715,;COL16A1,downstream_gene_variant,,ENST00000373667,;COL16A1,non_coding_transcript_exon_variant,,ENST00000482478,;COL16A1,non_coding_transcript_exon_variant,,ENST00000529928,;COL16A1,non_coding_transcript_exon_variant,,ENST00000474000,;	2479	96	134	SUCCESS
UROD	7389	.	GRCh37	1	45480057	45480057	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	51	141	0	ENST00000246337.4:c.637-54G>C		p.*213*	ENST00000246337	NM_000374.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS518.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGGGGAA	NONE	.	.	.	.	.	ENSP00000246337	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000246337	Transcript	.	.	ENSG00000126088	12591	.	.	MODIFIER	6/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCUP_HUMAN	UROD	HGNC	Q71UD5_HUMAN,Q71UD4_HUMAN	.	UPI0000112E85	SNV	UROD,intron_variant,,ENST00000428106,;UROD,intron_variant,,ENST00000434478,;UROD,intron_variant,,ENST00000246337,;HECTD3,upstream_gene_variant,,ENST00000372172,;ZSWIM5,downstream_gene_variant,,ENST00000359600,;UROD,non_coding_transcript_exon_variant,,ENST00000472254,;UROD,non_coding_transcript_exon_variant,,ENST00000494399,;UROD,intron_variant,,ENST00000462688,;UROD,intron_variant,,ENST00000469548,;UROD,intron_variant,,ENST00000478467,;UROD,intron_variant,,ENST00000486699,;UROD,intron_variant,,ENST00000491300,;UROD,downstream_gene_variant,,ENST00000491773,;UROD,upstream_gene_variant,,ENST00000466193,;UROD,upstream_gene_variant,,ENST00000465678,;UROD,downstream_gene_variant,,ENST00000463092,;UROD,downstream_gene_variant,,ENST00000490385,;UROD,downstream_gene_variant,,ENST00000460334,;UROD,downstream_gene_variant,,ENST00000496439,;UROD,downstream_gene_variant,,ENST00000473012,;UROD,downstream_gene_variant,,ENST00000460906,;UROD,downstream_gene_variant,,ENST00000461035,;	.	141	161	SUCCESS
CLCA2	9635	.	GRCh37	1	86916353	86916353	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	12	153	0	ENST00000370565.4:c.2092A>T	p.Ser698Cys	p.S698C	ENST00000370565	NM_006536.5	698	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS708.1	2092	RADIA|MUTECT|MUSE|VARSCANS	.	GCATAAGCACC	NONE	.	.	hmmpanther:PTHR10579:SF39,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359596	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000370565	Transcript	.	.	ENSG00000137975	2016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.376)	.	deleterious(0.01)	.	CLCA2_HUMAN	CLCA2	HGNC	.	.	UPI0000035838	SNV	CLCA2,missense_variant,p.Ser698Cys,ENST00000370565,;CLCA2,non_coding_transcript_exon_variant,,ENST00000498802,;	2254	153	111	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20571891	20571891	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	55	0	ENST00000202677.7:c.2271G>A	p.Gln757=	p.Q757=	ENST00000202677	NM_020343.3	757	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS46584.1	2271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTGTCC	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	.	.	ENSP00000202677	.	17/40	.	.	.	.	.	.	.	.	COSM4097042,COSM4097041	17/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,synonymous_variant,p.%3D,ENST00000202677,;RALGAPA2,synonymous_variant,p.%3D,ENST00000430436,;	2279	55	57	SUCCESS
FOXS1	2307	.	GRCh37	20	30432921	30432921	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs756957353	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	21	0	ENST00000375978.3:c.425G>C	p.Gly142Ala	p.G142A	ENST00000375978	NM_004118.3	142	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS13192.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCCTGGG	NONE	.	.	hmmpanther:PTHR11829:SF68,hmmpanther:PTHR11829	.	.	ENSP00000365145	.	1/1	.	.	.	.	.	.	.	.	rs756957353	1/1	PASS	ENST00000375978	Transcript	.	.	ENSG00000179772	3735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.247)	.	tolerated(0.24)	.	FOXS1_HUMAN	FOXS1	HGNC	.	.	UPI000003603C	SNV	FOXS1,missense_variant,p.Gly142Ala,ENST00000375978,;DUSP15,downstream_gene_variant,,ENST00000447647,;DUSP15,downstream_gene_variant,,ENST00000278979,;	500	21	24	SUCCESS
PXMP4	11264	.	GRCh37	20	32298387	32298387	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1601204521	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	34	138	0	ENST00000409299.3:c.349G>T	p.Gly117Ter	p.G117*	ENST00000409299	NM_007238.4	117	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS13225.1	349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCAAACA	NONE	.	.	hmmpanther:PTHR15460,Pfam_domain:PF02466,PIRSF_domain:PIRSF013674	.	.	ENSP00000386385	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000409299	Transcript	.	.	ENSG00000101417	15920	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXMP4_HUMAN	PXMP4	HGNC	B4DLI8_HUMAN	.	UPI000013C727	SNV	PXMP4,stop_gained,p.Gly117Ter,ENST00000409299,;PXMP4,missense_variant,p.Leu123Phe,ENST00000217398,;PXMP4,intron_variant,,ENST00000344022,;	442	138	142	SUCCESS
NFATC2	4773	.	GRCh37	20	50092056	50092056	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	75	276	0	ENST00000396009.3:c.1474A>C	p.Ile492Leu	p.I492L	ENST00000396009	NM_001258297.1	492	Ata/Cta	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS13437.1	1474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTATCTTCT	NONE	.	.	Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533,PROSITE_profiles:PS50254	.	.	ENSP00000379330	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.17)	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,missense_variant,p.Ile492Leu,ENST00000396009,;NFATC2,missense_variant,p.Ile472Leu,ENST00000609943,;NFATC2,missense_variant,p.Ile492Leu,ENST00000371564,;NFATC2,missense_variant,p.Ile273Leu,ENST00000609507,;NFATC2,missense_variant,p.Ile273Leu,ENST00000610033,;NFATC2,missense_variant,p.Ile472Leu,ENST00000414705,;	1694	276	298	SUCCESS
KRTAP7-1	337878	.	GRCh37	21	32201797	32201797	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	63	0	ENST00000452750.1:n.282A>C		p.*94*	ENST00000452750				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTATAGA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000452750	Transcript	.	.	ENSG00000184586	18934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	KRTAP7-1	HGNC	.	.	.	SNV	KRTAP7-1,non_coding_transcript_exon_variant,,ENST00000452750,;AP000244.1,non_coding_transcript_exon_variant,,ENST00000539876,;	282	63	74	SUCCESS
ITSN1	6453	.	GRCh37	21	35172168	35172168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	33	0	ENST00000381318.3:c.2239G>A	p.Ala747Thr	p.A747T	ENST00000381318	NM_003024.2	747	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33545.1	2239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGGCACTG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000370719	.	19/40	.	.	.	.	.	.	.	.	.	19/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,missense_variant,p.Ala747Thr,ENST00000381285,;ITSN1,missense_variant,p.Ala710Thr,ENST00000399353,;ITSN1,missense_variant,p.Ala747Thr,ENST00000399349,;ITSN1,missense_variant,p.Ala747Thr,ENST00000399352,;ITSN1,missense_variant,p.Ala747Thr,ENST00000381318,;ITSN1,missense_variant,p.Ala747Thr,ENST00000399338,;ITSN1,missense_variant,p.Ala747Thr,ENST00000399326,;ITSN1,missense_variant,p.Ala747Thr,ENST00000399355,;ITSN1,missense_variant,p.Ala747Thr,ENST00000381291,;ITSN1,missense_variant,p.Ala747Thr,ENST00000399367,;ITSN1,missense_variant,p.Ala747Thr,ENST00000437442,;ITSN1,missense_variant,p.Ala747Thr,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,upstream_gene_variant,,ENST00000440794,;ITSN1,missense_variant,p.Ala38Thr,ENST00000419241,;	2527	33	27	SUCCESS
CABIN1	23523	.	GRCh37	22	24494153	24494153	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	15	0	ENST00000263119.5:c.4115A>G	p.Asp1372Gly	p.D1372G	ENST00000263119	NM_012295.3	1372	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13823.1	4115	RADIA|VARSCANS	.	GCCGGACGGTA	NONE	.	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	26/37	.	.	.	.	.	.	.	.	.	26/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.12)	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.Asp1372Gly,ENST00000398319,;CABIN1,missense_variant,p.Asp1372Gly,ENST00000263119,;CABIN1,intron_variant,,ENST00000405822,;KB-318B8.7,upstream_gene_variant,,ENST00000444093,;CABIN1,non_coding_transcript_exon_variant,,ENST00000467937,;	4500	15	26	SUCCESS
SF3A1	10291	.	GRCh37	22	30742471	30742471	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	55	178	1	ENST00000215793.8:c.223G>A	p.Glu75Lys	p.E75K	ENST00000215793	NM_005877.4	75	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13875.1	223	RADIA|SOMATICSNIPER|VARSCANS	.	GATCTCGTTCT	NONE	.	.	PROSITE_profiles:PS50128,hmmpanther:PTHR15316,Pfam_domain:PF01805,SMART_domains:SM00648,Superfamily_domains:SSF109905	.	.	ENSP00000215793	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000215793	Transcript	.	.	ENSG00000099995	10765	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	SF3A1_HUMAN	SF3A1	HGNC	.	.	UPI0000000C88	SNV	SF3A1,missense_variant,p.Glu75Lys,ENST00000215793,;SF3A1,missense_variant,p.Glu75Lys,ENST00000439242,;SF3A1,upstream_gene_variant,,ENST00000444440,;SF3A1,non_coding_transcript_exon_variant,,ENST00000471342,;SF3A1,non_coding_transcript_exon_variant,,ENST00000463818,;SF3A1,intron_variant,,ENST00000411423,;SF3A1,intron_variant,,ENST00000447376,;SF3A1,upstream_gene_variant,,ENST00000471037,;	378	179	223	SUCCESS
TMEM184B	25829	.	GRCh37	22	38643832	38643832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	28	0	ENST00000361684.4:c.136G>T	p.Ala46Ser	p.A46S	ENST00000361684	NM_001195071.1	46	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13969.2	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCGGCAG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF03619,hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20	.	.	ENSP00000355210	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000361906	Transcript	.	.	ENSG00000198792	1310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0.04)	.	T184B_HUMAN	TMEM184B	HGNC	Q6AHY5_HUMAN,B0QY30_HUMAN	.	UPI00001A92F8	SNV	TMEM184B,missense_variant,p.Ala46Ser,ENST00000361684,;TMEM184B,missense_variant,p.Ala46Ser,ENST00000361906,;TMEM184B,upstream_gene_variant,,ENST00000403210,;TMEM184B,missense_variant,p.Ala46Ser,ENST00000457534,;TMEM184B,missense_variant,p.Ala46Ser,ENST00000411679,;TMEM184B,missense_variant,p.Ala46Ser,ENST00000436674,;TMEM184B,non_coding_transcript_exon_variant,,ENST00000466117,;	345	28	36	SUCCESS
KCNJ4	3761	.	GRCh37	22	38823337	38823337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	34	0	ENST00000303592.3:c.801G>T	p.Glu267Asp	p.E267D	ENST00000303592	NM_152868.2	267	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS13971.1	801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCTCGTC	BUFFER|p.I265I|c.795C>T|4	.	.	hmmpanther:PTHR11767:SF13,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000306497	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303592	Transcript	.	.	ENSG00000168135	6265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.09)	.	IRK4_HUMAN	KCNJ4	HGNC	Q58F07_HUMAN	.	UPI000012D89B	SNV	KCNJ4,missense_variant,p.Glu267Asp,ENST00000303592,;RP3-434P1.6,non_coding_transcript_exon_variant,,ENST00000433230,;	1060	34	54	SUCCESS
CELSR1	9620	.	GRCh37	22	46829366	46829366	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs573686247	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	27	0	ENST00000262738.3:c.4535C>T	p.Thr1512Met	p.T1512M	ENST00000262738	NM_014246.1	1512	aCg/aTg	0	.	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS14076.1	4535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGTTGTT	NONE	by1000G	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,PROSITE_profiles:PS50025	A:0	.	ENSP00000262738	A:0.001	5/35	.	.	.	.	.	.	.	.	rs573686247	5/35	PASS	ENST00000262738	Transcript	.	A:0.0002	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Thr1512Met,ENST00000262738,;	4535	27	29	SUCCESS
SELO	0	.	GRCh37	22	50655246	50655246	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	21	0	ENST00000380903.2:c.1629T>G	p.Ser543Arg	p.S543R	ENST00000380903	NM_031454.1	543	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS43034.1	1629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTGCGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,HAMAP:MF_00692,hmmpanther:PTHR12153,Pfam_domain:PF02696	.	.	ENSP00000370288	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000380903	Transcript	.	.	ENSG00000073169	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	tolerated(0.07)	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	SNV	SELO,missense_variant,p.Ser543Arg,ENST00000380903,;TUBGCP6,downstream_gene_variant,,ENST00000439308,;TUBGCP6,downstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000248846,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,downstream_gene_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000498611,;	1687	21	31	SUCCESS
THSD7B	80731	.	GRCh37	2	137928399	137928399	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	86	0	ENST00000272643.3:c.1614G>T	p.Glu538Asp	p.E538D	ENST00000272643		538	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	.	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAGGATCC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,SMART_domains:SM00209	.	.	ENSP00000272643	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	tolerated(0.24)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Glu538Asp,ENST00000409968,;THSD7B,missense_variant,p.Glu507Asp,ENST00000413152,;THSD7B,missense_variant,p.Glu538Asp,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;THSD7B,non_coding_transcript_exon_variant,,ENST00000485379,;	1614	86	119	SUCCESS
THSD7B	80731	.	GRCh37	2	137928400	137928400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	85	0	ENST00000272643.3:c.1615G>T	p.Asp539Tyr	p.D539Y	ENST00000272643		539	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	1615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGATCCA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,SMART_domains:SM00209	.	.	ENSP00000272643	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Asp539Tyr,ENST00000409968,;THSD7B,missense_variant,p.Asp508Tyr,ENST00000413152,;THSD7B,missense_variant,p.Asp539Tyr,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;THSD7B,non_coding_transcript_exon_variant,,ENST00000485379,;	1615	85	118	SUCCESS
LY75	4065	.	GRCh37	2	160665051	160665051	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs777096199	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	35	145	0	ENST00000263636.4:c.4731T>A	p.Asp1577Glu	p.D1577E	ENST00000263636	NM_002349.3	1577	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS56141.1	4731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCATCTTT	NONE	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	33/39	.	.	.	.	.	.	.	.	rs777096199	33/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.07)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Asp1577Glu,ENST00000504764,;LY75,missense_variant,p.Asp1577Glu,ENST00000553424,;LY75,missense_variant,p.Asp1577Glu,ENST00000554112,;LY75,missense_variant,p.Asp1577Glu,ENST00000263636,;LY75-CD302,missense_variant,p.Asp1577Glu,ENST00000505052,;AC009961.5,downstream_gene_variant,,ENST00000435771,;	4759	145	127	SUCCESS
DFNB59	0	.	GRCh37	2	179325171	179325171	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	113	0	ENST00000409117.3:c.764G>C	p.Arg255Thr	p.R255T	ENST00000409117	NM_001042702.3	255	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS42787.1	764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGAAGTA	NONE	.	.	hmmpanther:PTHR16399:SF10,hmmpanther:PTHR16399	.	.	ENSP00000386647	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000409117	Transcript	.	.	ENSG00000204311	29502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.35)	.	PJVK_HUMAN	DFNB59	HGNC	A0PK15_HUMAN	.	UPI0000DAD718	SNV	DFNB59,missense_variant,p.Arg255Thr,ENST00000375129,;DFNB59,missense_variant,p.Arg255Thr,ENST00000409117,;DFNB59,splice_region_variant,,ENST00000442710,;FKBP7,downstream_gene_variant,,ENST00000424785,;FKBP7,downstream_gene_variant,,ENST00000464248,;DFNB59,downstream_gene_variant,,ENST00000605419,;DFNB59,splice_region_variant,,ENST00000437056,;DFNB59,downstream_gene_variant,,ENST00000444615,;	1120	113	94	SUCCESS
OSGEPL1	64172	.	GRCh37	2	190617632	190617632	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	52	265	0	ENST00000264151.5:c.1037G>A	p.Cys346Tyr	p.C346Y	ENST00000264151	NM_022353.2	346	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS46472.1	1037	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGCACTGT	NONE	.	.	hmmpanther:PTHR11735:SF12,hmmpanther:PTHR11735,TIGRFAM_domain:TIGR00329,Pfam_domain:PF00814,Superfamily_domains:SSF53067	.	.	ENSP00000264151	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000264151	Transcript	.	.	ENSG00000128694	23075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(1)	.	OSGP2_HUMAN	OSGEPL1	HGNC	E7EVL7_HUMAN,E5RIL9_HUMAN,E5RGZ1_HUMAN	.	UPI000006D878	SNV	OSGEPL1,missense_variant,p.Cys346Tyr,ENST00000519810,;OSGEPL1,missense_variant,p.Cys346Tyr,ENST00000264151,;OSGEPL1,missense_variant,p.Cys346Tyr,ENST00000522700,;OSGEPL1,downstream_gene_variant,,ENST00000521630,;OSGEPL1,downstream_gene_variant,,ENST00000520350,;OSGEPL1,downstream_gene_variant,,ENST00000517895,;Y_RNA,upstream_gene_variant,,ENST00000411317,;ANKAR,intron_variant,,ENST00000476208,;OSGEPL1,non_coding_transcript_exon_variant,,ENST00000524043,;ANKAR,intron_variant,,ENST00000441800,;OSGEPL1,downstream_gene_variant,,ENST00000518114,;	1140	265	230	SUCCESS
PMS1	5378	.	GRCh37	2	190718971	190718971	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	138	0	ENST00000441310.2:c.973G>A	p.Val325Ile	p.V325I	ENST00000441310	NM_000534.4	325	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS2302.1	973	RADIA|MUTECT|MUSE|VARSCANS	.	AATCTGTTTTA	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38,Pfam_domain:PF01119,Gene3D:3.30.230.10,Superfamily_domains:SSF54211	.	.	ENSP00000406490	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000441310	Transcript	.	.	ENSG00000064933	9121	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.074)	.	tolerated(0.17)	.	PMS1_HUMAN	PMS1	HGNC	Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN	.	UPI00000405F5	SNV	PMS1,missense_variant,p.Val264Ile,ENST00000424307,;PMS1,missense_variant,p.Val325Ile,ENST00000441310,;PMS1,missense_variant,p.Val149Ile,ENST00000432292,;PMS1,missense_variant,p.Val325Ile,ENST00000447232,;PMS1,missense_variant,p.Val286Ile,ENST00000409823,;PMS1,missense_variant,p.Val110Ile,ENST00000409593,;PMS1,missense_variant,p.Val149Ile,ENST00000418224,;PMS1,upstream_gene_variant,,ENST00000452382,;PMS1,non_coding_transcript_exon_variant,,ENST00000424059,;PMS1,non_coding_transcript_exon_variant,,ENST00000421722,;PMS1,upstream_gene_variant,,ENST00000483293,;PMS1,missense_variant,p.Val286Ile,ENST00000450931,;PMS1,3_prime_UTR_variant,,ENST00000342075,;PMS1,downstream_gene_variant,,ENST00000447734,;	1206	138	118	SUCCESS
ASIC4	55515	.	GRCh37	2	220379823	220379823	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs758893039	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	48	0	ENST00000347842.3:c.758C>A	p.Ser253Ter	p.S253*	ENST00000347842	NM_182847.2	253	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS2442.1	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTCGGCAC	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF13,Pfam_domain:PF00858,Gene3D:2qtsA03	.	.	ENSP00000326627	.	1/9	.	.	.	.	.	.	.	.	rs758893039	1/9	PASS	ENST00000347842	Transcript	.	.	ENSG00000072182	21263	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASIC4_HUMAN	ASIC4	HGNC	.	.	UPI0000456EFC	SNV	ASIC4,stop_gained,p.Ser253Ter,ENST00000358078,;ASIC4,stop_gained,p.Ser253Ter,ENST00000347842,;AC053503.11,intron_variant,,ENST00000429882,;ASIC4,upstream_gene_variant,,ENST00000473709,;ASIC4,non_coding_transcript_exon_variant,,ENST00000461395,;ASIC4,upstream_gene_variant,,ENST00000474489,;	772	48	64	SUCCESS
SP140	11262	.	GRCh37	2	231176178	231176178	+	synonymous_variant	Silent	SNP	G	G	A	rs558534066	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	605	84	614	0	ENST00000392045.3:c.2373G>A	p.Ala791=	p.A791=	ENST00000392045	NM_007237.4	791	gcG/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS42831.1	2373	RADIA|MUSE	.	GAGGCGTGTCA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370	A:0.001	.	ENSP00000375899	A:0	26/27	.	.	.	.	.	.	.	.	rs558534066	26/27	PASS	ENST00000392045	Transcript	.	A:0.0004	ENSG00000079263	17133	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	SNV	SP140,synonymous_variant,p.%3D,ENST00000417495,;SP140,synonymous_variant,p.%3D,ENST00000350136,;SP140,synonymous_variant,p.%3D,ENST00000392045,;SP140,synonymous_variant,p.%3D,ENST00000343805,;SP140,synonymous_variant,p.%3D,ENST00000486687,;SP140,synonymous_variant,p.%3D,ENST00000420434,;SP140,non_coding_transcript_exon_variant,,ENST00000479539,;SP140,downstream_gene_variant,,ENST00000486750,;	2487	615	689	SUCCESS
KLHL29	114818	.	GRCh37	2	23785124	23785124	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1414289913	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	15	0	ENST00000486442.1:c.58G>A	p.Glu20Lys	p.E20K	ENST00000486442	NM_052920.1	20	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54335.1	58	SOMATICSNIPER|VARSCANS	.	GCCGCGAATGG	NONE	.	.	.	.	.	ENSP00000420659	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000486442	Transcript	.	.	ENSG00000119771	29404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.124)	.	deleterious_low_confidence(0.01)	.	KLH29_HUMAN	KLHL29	HGNC	Q53T86_HUMAN	.	UPI000058F1B6	SNV	KLHL29,missense_variant,p.Glu20Lys,ENST00000486442,;KLHL29,non_coding_transcript_exon_variant,,ENST00000489446,;	775	15	18	SUCCESS
GTF3C2	2976	.	GRCh37	2	27552031	27552031	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1248429123	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	60	0	ENST00000264720.3:c.1996C>G	p.Pro666Ala	p.P666A	ENST00000264720	NM_001035521.2	666	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS1749.1	1996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGGAAGCA	NONE	.	.	hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2	.	.	ENSP00000352536	.	14/19	.	.	.	.	.	.	.	.	COSM3580604	14/19	PASS	ENST00000359541	Transcript	.	.	ENSG00000115207	4665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.093)	.	tolerated(0.16)	1	TF3C2_HUMAN	GTF3C2	HGNC	Q53SY8_HUMAN,Q53QN0_HUMAN,C9JQ12_HUMAN,C9JNH7_HUMAN	.	UPI0000074025	SNV	GTF3C2,missense_variant,p.Pro666Ala,ENST00000264720,;GTF3C2,missense_variant,p.Pro175Ala,ENST00000454704,;GTF3C2,missense_variant,p.Pro666Ala,ENST00000359541,;GTF3C2,upstream_gene_variant,,ENST00000431028,;GTF3C2,upstream_gene_variant,,ENST00000457098,;MPV17,upstream_gene_variant,,ENST00000357186,;GTF3C2,missense_variant,p.Pro68Ala,ENST00000415683,;GTF3C2,upstream_gene_variant,,ENST00000495298,;GTF3C2,upstream_gene_variant,,ENST00000484680,;	2426	60	86	SUCCESS
EIF2B4	8890	.	GRCh37	2	27590024	27590024	+	synonymous_variant	Silent	SNP	C	C	T	rs373520608	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	73	0	ENST00000347454.4:c.930G>A	p.Glu310=	p.E310=	ENST00000347454	NM_015636.3	310	gaG/gaA	0	T:0	.	.	.	.	T	E	protein_coding	YES	CCDS46245.1	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCTCTTG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10233:SF14,hmmpanther:PTHR10233,Pfam_domain:PF01008,Superfamily_domains:SSF100950	.	T:0.0001	ENSP00000394869	.	9/12	.	.	.	.	.	.	.	.	rs373520608	9/12	PASS	ENST00000451130	Transcript	.	.	ENSG00000115211	3260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BD_HUMAN	EIF2B4	HGNC	.	.	UPI0000366EE5	SNV	EIF2B4,synonymous_variant,p.%3D,ENST00000445933,;EIF2B4,synonymous_variant,p.%3D,ENST00000493344,;EIF2B4,synonymous_variant,p.%3D,ENST00000347454,;EIF2B4,synonymous_variant,p.%3D,ENST00000451130,;SNX17,upstream_gene_variant,,ENST00000537606,;SNX17,upstream_gene_variant,,ENST00000542478,;SNX17,upstream_gene_variant,,ENST00000543024,;SNX17,upstream_gene_variant,,ENST00000233575,;AC074117.10,intron_variant,,ENST00000412749,;EIF2B4,3_prime_UTR_variant,,ENST00000405940,;EIF2B4,non_coding_transcript_exon_variant,,ENST00000475582,;EIF2B4,intron_variant,,ENST00000417567,;SNX17,upstream_gene_variant,,ENST00000453453,;SNX17,upstream_gene_variant,,ENST00000484886,;SNX17,upstream_gene_variant,,ENST00000464279,;SNX17,upstream_gene_variant,,ENST00000440760,;EIF2B4,upstream_gene_variant,,ENST00000478311,;EIF2B4,downstream_gene_variant,,ENST00000418146,;SNX17,upstream_gene_variant,,ENST00000494893,;EIF2B4,downstream_gene_variant,,ENST00000462749,;SNX17,upstream_gene_variant,,ENST00000489402,;SNX17,upstream_gene_variant,,ENST00000427123,;	990	73	73	SUCCESS
FAM98A	25940	.	GRCh37	2	33810097	33810097	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	27	106	1	ENST00000238823.8:c.1303A>G	p.Ser435Gly	p.S435G	ENST00000238823		435	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS33179.1	1303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACTTCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF6	.	.	ENSP00000238823	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000238823	Transcript	.	.	ENSG00000119812	24520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.2)	.	FA98A_HUMAN	FAM98A	HGNC	C9J3G8_HUMAN,B4DT23_HUMAN	.	UPI000013F15A	SNV	FAM98A,missense_variant,p.Ser240Gly,ENST00000441530,;FAM98A,missense_variant,p.Ser435Gly,ENST00000238823,;FAM98A,3_prime_UTR_variant,,ENST00000403368,;FAM98A,downstream_gene_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000475122,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,downstream_gene_variant,,ENST00000492649,;	1444	107	100	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656603	40656603	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	93	1	ENST00000332839.4:c.818G>T	p.Gly273Val	p.G273V	ENST00000332839	NM_021097.2	273	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1806.1	818	SOMATICSNIPER|VARSCANS	.	TCATCCCCCTC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Gly273Val,ENST00000408028,;SLC8A1,missense_variant,p.Gly273Val,ENST00000406785,;SLC8A1,missense_variant,p.Gly273Val,ENST00000542024,;SLC8A1,missense_variant,p.Gly273Val,ENST00000403092,;SLC8A1,missense_variant,p.Gly273Val,ENST00000405269,;SLC8A1,missense_variant,p.Gly273Val,ENST00000332839,;SLC8A1,missense_variant,p.Gly273Val,ENST00000542756,;SLC8A1,missense_variant,p.Gly273Val,ENST00000406391,;SLC8A1,missense_variant,p.Gly273Val,ENST00000405901,;SLC8A1,missense_variant,p.Gly273Val,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,missense_variant,p.Gly270Val,ENST00000407929,;	852	94	87	SUCCESS
LRRTM4	80059	.	GRCh37	2	77745674	77745674	+	synonymous_variant	Silent	SNP	A	A	G	rs1475792466	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	44	128	1	ENST00000409093.1:c.1321T>C	p.Leu441=	p.L441=	ENST00000409093		441	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS46346.1	1321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAAGAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24369:SF1,hmmpanther:PTHR24369	.	.	ENSP00000386357	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000409093	Transcript	.	.	ENSG00000176204	19411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRT4_HUMAN	LRRTM4	HGNC	C9JM64_HUMAN	.	UPI0000047808	SNV	LRRTM4,synonymous_variant,p.%3D,ENST00000409088,;LRRTM4,synonymous_variant,p.%3D,ENST00000409093,;LRRTM4,synonymous_variant,p.%3D,ENST00000409282,;LRRTM4,synonymous_variant,p.%3D,ENST00000409884,;LRRTM4,synonymous_variant,p.%3D,ENST00000409911,;LRRTM4,downstream_gene_variant,,ENST00000456154,;	1658	129	134	SUCCESS
IGKV2-28	28921	.	GRCh37	2	89521221	89521221	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	26	136	0	ENST00000482769.1:c.318G>A	p.Glu106=	p.E106=	ENST00000482769		106	gaG/gaA	0	.	.	.	.	.	T	E	IG_V_gene	YES	.	318	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCTCAGC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF155,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000419353	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482769	Transcript	.	.	ENSG00000244116	5783	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGKV2-28	HGNC	.	.	UPI00005FFCB1	SNV	IGKV2-28,synonymous_variant,p.%3D,ENST00000482769,;	348	136	133	SUCCESS
TSEN2	80746	.	GRCh37	3	12544973	12544973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	37	108	0	ENST00000284995.6:c.521A>T	p.Asn174Ile	p.N174I	ENST00000284995	NM_025265.3	174	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS2611.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAAACGGGG	NONE	.	.	hmmpanther:PTHR21227,hmmpanther:PTHR21227:SF0,PIRSF_domain:PIRSF011789	.	.	ENSP00000284995	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000284995	Transcript	.	.	ENSG00000154743	28422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	deleterious(0.01)	.	SEN2_HUMAN	TSEN2	HGNC	C9J7Z4_HUMAN	.	UPI000006CC96	SNV	TSEN2,missense_variant,p.Asn174Ile,ENST00000314571,;TSEN2,missense_variant,p.Asn174Ile,ENST00000284995,;TSEN2,missense_variant,p.Asn174Ile,ENST00000383797,;TSEN2,missense_variant,p.Asn174Ile,ENST00000402228,;TSEN2,missense_variant,p.Asn174Ile,ENST00000446004,;TSEN2,missense_variant,p.Asn174Ile,ENST00000444864,;TSEN2,missense_variant,p.Asn174Ile,ENST00000415684,;TSEN2,splice_region_variant,,ENST00000454502,;RNU6-404P,upstream_gene_variant,,ENST00000515968,;TSEN2,non_coding_transcript_exon_variant,,ENST00000490981,;TSEN2,non_coding_transcript_exon_variant,,ENST00000473755,;	908	108	119	SUCCESS
EPHB1	2047	.	GRCh37	3	134920367	134920367	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	30	116	0	ENST00000398015.3:c.2182A>T	p.Ile728Phe	p.I728F	ENST00000398015	NM_004441.4	728	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS46921.1	2182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCATCGCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000381097	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,missense_variant,p.Ile289Phe,ENST00000493838,;EPHB1,missense_variant,p.Ile728Phe,ENST00000398015,;	2552	116	137	SUCCESS
AADAC	13	.	GRCh37	3	151545693	151545693	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	52	0	ENST00000232892.7:c.933T>G	p.Tyr311Ter	p.Y311*	ENST00000232892	NM_001086.2	311	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS33877.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATCCAGG	NONE	.	.	hmmpanther:PTHR23024:SF97,hmmpanther:PTHR23024,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	.	.	ENSP00000232892	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000232892	Transcript	.	.	ENSG00000114771	17	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAAD_HUMAN	AADAC	HGNC	.	.	UPI000006D992	SNV	AADAC,stop_gained,p.Tyr311Ter,ENST00000232892,;AADAC,downstream_gene_variant,,ENST00000488869,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;	1059	52	48	SUCCESS
P2RY1	5028	.	GRCh37	3	152553878	152553878	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	36	98	0	ENST00000305097.3:c.307A>C	p.Thr103Pro	p.T103P	ENST00000305097	NM_002563.3	103	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS3169.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGACTCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01157	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0)	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,missense_variant,p.Thr103Pro,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	1143	99	141	SUCCESS
TTC14	151613	.	GRCh37	3	180326742	180326742	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	18	0	ENST00000296015.4:c.1400+144G>T		p.*467*	ENST00000296015	NM_133462.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3237.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTGTTCCA	NONE	.	.	.	.	.	ENSP00000296015	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,3_prime_UTR_variant,,ENST00000412756,;TTC14,intron_variant,,ENST00000382584,;TTC14,intron_variant,,ENST00000296015,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000491380,;TTC14,downstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000489868,;TTC14,downstream_gene_variant,,ENST00000495660,;TTC14,intron_variant,,ENST00000465625,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,3_prime_UTR_variant,,ENST00000470669,;TTC14,downstream_gene_variant,,ENST00000462895,;	.	18	19	SUCCESS
DGKG	1608	.	GRCh37	3	185993350	185993350	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	40	0	ENST00000265022.3:c.896G>A	p.Gly299Asp	p.G299D	ENST00000265022	NM_001080744.1	299	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS3274.1	896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCCTTGC	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000265022	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000265022	Transcript	.	.	ENSG00000058866	2853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,missense_variant,p.Gly299Asp,ENST00000382164,;DGKG,missense_variant,p.Gly299Asp,ENST00000544847,;DGKG,missense_variant,p.Gly50Asp,ENST00000437018,;DGKG,missense_variant,p.Gly299Asp,ENST00000265022,;DGKG,missense_variant,p.Gly299Asp,ENST00000344484,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,non_coding_transcript_exon_variant,,ENST00000472506,;DGKG,downstream_gene_variant,,ENST00000482566,;	1436	40	49	SUCCESS
RBMS3	27303	.	GRCh37	3	29781252	29781252	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	112	0	ENST00000383767.2:c.441C>G	p.Leu147=	p.L147=	ENST00000383767		147	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33724.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTCCCCAT	NONE	.	.	Prints_domain:PR00961,Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219,PROSITE_profiles:PS50102	.	.	ENSP00000373277	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,synonymous_variant,p.%3D,ENST00000434693,;RBMS3,synonymous_variant,p.%3D,ENST00000273139,;RBMS3,synonymous_variant,p.%3D,ENST00000396583,;RBMS3,synonymous_variant,p.%3D,ENST00000383767,;RBMS3,synonymous_variant,p.%3D,ENST00000445033,;RBMS3,synonymous_variant,p.%3D,ENST00000452462,;RBMS3,synonymous_variant,p.%3D,ENST00000383766,;RBMS3,synonymous_variant,p.%3D,ENST00000456853,;RBMS3,non_coding_transcript_exon_variant,,ENST00000478716,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497205,;	777	112	89	SUCCESS
SCN5A	6331	.	GRCh37	3	38645329	38645329	+	synonymous_variant	Silent	SNP	A	A	G	rs775985491	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	78	0	ENST00000333535.4:c.1764T>C	p.His588=	p.H588=	ENST00000333535		588	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS46799.1	1764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCATGGAG	NONE	byFrequency	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF11933	.	.	ENSP00000410257	.	12/28	.	.	.	.	.	.	.	.	rs775985491	12/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,synonymous_variant,p.%3D,ENST00000449557,;SCN5A,synonymous_variant,p.%3D,ENST00000413689,;SCN5A,synonymous_variant,p.%3D,ENST00000423572,;SCN5A,synonymous_variant,p.%3D,ENST00000425664,;SCN5A,synonymous_variant,p.%3D,ENST00000414099,;SCN5A,synonymous_variant,p.%3D,ENST00000451551,;SCN5A,synonymous_variant,p.%3D,ENST00000450102,;SCN5A,synonymous_variant,p.%3D,ENST00000333535,;SCN5A,synonymous_variant,p.%3D,ENST00000455624,;SCN5A,synonymous_variant,p.%3D,ENST00000443581,;	1958	78	82	SUCCESS
VIPR1	7433	.	GRCh37	3	42577594	42577594	+	synonymous_variant	Silent	SNP	C	C	T	rs761769126	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	55	0	ENST00000325123.4:c.1195C>T	p.Leu399=	p.L399=	ENST00000325123	NM_001251885.1	399	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2698.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGCTGAGG	NONE	.	.	hmmpanther:PTHR12011:SF31,hmmpanther:PTHR12011,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000327246	.	13/13	.	.	.	.	.	.	.	.	rs761769126	13/13	PASS	ENST00000325123	Transcript	.	.	ENSG00000114812	12694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIPR1_HUMAN	VIPR1	HGNC	C9JH33_HUMAN	.	UPI000005045A	SNV	VIPR1,synonymous_variant,p.%3D,ENST00000325123,;VIPR1,synonymous_variant,p.%3D,ENST00000543411,;VIPR1,synonymous_variant,p.%3D,ENST00000438259,;VIPR1,synonymous_variant,p.%3D,ENST00000433647,;VIPR1-AS1,upstream_gene_variant,,ENST00000600342,;VIPR1-AS1,upstream_gene_variant,,ENST00000452639,;VIPR1-AS1,upstream_gene_variant,,ENST00000608869,;VIPR1-AS1,upstream_gene_variant,,ENST00000601312,;VIPR1-AS1,upstream_gene_variant,,ENST00000610022,;VIPR1-AS1,upstream_gene_variant,,ENST00000593621,;VIPR1-AS1,upstream_gene_variant,,ENST00000598837,;VIPR1-AS1,upstream_gene_variant,,ENST00000602176,;VIPR1-AS1,upstream_gene_variant,,ENST00000596630,;VIPR1-AS1,upstream_gene_variant,,ENST00000593611,;VIPR1,3_prime_UTR_variant,,ENST00000439910,;VIPR1,3_prime_UTR_variant,,ENST00000443646,;VIPR1,non_coding_transcript_exon_variant,,ENST00000498102,;VIPR1,downstream_gene_variant,,ENST00000436487,;VIPR1,downstream_gene_variant,,ENST00000446673,;VIPR1,downstream_gene_variant,,ENST00000465338,;	1308	55	52	SUCCESS
SACM1L	22908	.	GRCh37	3	45748365	45748365	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1181029098	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	47	217	0	ENST00000389061.5:c.299A>G	p.Tyr100Cys	p.Y100C	ENST00000389061	NM_014016.3	100	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33745.1	299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTATAAGA	NONE	.	.	Pfam_domain:PF02383,hmmpanther:PTHR11200	.	.	ENSP00000373713	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000389061	Transcript	.	.	ENSG00000211456	17059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	SAC1_HUMAN	SACM1L	HGNC	E9PGZ4_HUMAN,C9JV50_HUMAN	.	UPI000006EAA5	SNV	SACM1L,missense_variant,p.Tyr100Cys,ENST00000389061,;SACM1L,5_prime_UTR_variant,,ENST00000418611,;SACM1L,intron_variant,,ENST00000438671,;SACM1L,intron_variant,,ENST00000541314,;SACM1L,non_coding_transcript_exon_variant,,ENST00000464524,;SACM1L,non_coding_transcript_exon_variant,,ENST00000478586,;SACM1L,missense_variant,p.Tyr100Cys,ENST00000445499,;SACM1L,5_prime_UTR_variant,,ENST00000455997,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463237,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463347,;SACM1L,intron_variant,,ENST00000441228,;	503	217	182	SUCCESS
ALAS1	211	.	GRCh37	3	52240032	52240032	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	114	1	ENST00000310271.2:c.978G>A	p.Met326Ile	p.M326I	ENST00000310271	NM_199166.2	326	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2847.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGATGCC	NONE	.	.	Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01821,hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF50	.	.	ENSP00000378416	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000394965	Transcript	.	.	ENSG00000023330	396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.34)	.	HEM1_HUMAN	ALAS1	HGNC	Q5JAM2_HUMAN	.	UPI0000001230	SNV	ALAS1,missense_variant,p.Met326Ile,ENST00000484952,;ALAS1,missense_variant,p.Met326Ile,ENST00000469224,;ALAS1,missense_variant,p.Met326Ile,ENST00000394965,;ALAS1,missense_variant,p.Met326Ile,ENST00000310271,;ALAS1,upstream_gene_variant,,ENST00000493402,;	1338	116	113	SUCCESS
PDZRN3	23024	.	GRCh37	3	73453362	73453362	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	43	159	1	ENST00000263666.4:c.1103T>C	p.Met368Thr	p.M368T	ENST00000263666	NM_015009.1	368	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS33789.1	1103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCATGATA	NONE	.	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545	.	.	ENSP00000263666	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.03)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Met25Thr,ENST00000466780,;PDZRN3,missense_variant,p.Met368Thr,ENST00000263666,;PDZRN3,missense_variant,p.Met25Thr,ENST00000462146,;PDZRN3,missense_variant,p.Met85Thr,ENST00000479530,;PDZRN3,missense_variant,p.Met90Thr,ENST00000535920,;PDZRN3,missense_variant,p.Met66Thr,ENST00000492909,;PDZRN3,upstream_gene_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000308537,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000498048,;PDZRN3,upstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,upstream_gene_variant,,ENST00000484487,;	1218	160	151	SUCCESS
SLC39A8	64116	.	GRCh37	4	103228652	103228652	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs749094696	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	76	327	0	ENST00000356736.4:c.493T>G	p.Phe165Val	p.F165V	ENST00000356736	NM_001135146.1	165	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS3656.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAAAAAGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF2,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000378310	.	3/8	.	.	.	.	.	.	.	.	rs749094696	3/8	PASS	ENST00000394833	Transcript	.	.	ENSG00000138821	20862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S39A8_HUMAN	SLC39A8	HGNC	.	.	UPI0000046C4E	SNV	SLC39A8,missense_variant,p.Phe165Val,ENST00000356736,;SLC39A8,missense_variant,p.Phe165Val,ENST00000394833,;SLC39A8,missense_variant,p.Phe165Val,ENST00000424970,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000512657,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000510255,;SLC39A8,intron_variant,,ENST00000514000,;SLC39A8,upstream_gene_variant,,ENST00000512337,;SLC39A8,downstream_gene_variant,,ENST00000502903,;	970	327	277	SUCCESS
HHIP	64399	.	GRCh37	4	145579960	145579960	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149715142	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	110	1	ENST00000296575.3:c.491C>T	p.Ala164Val	p.A164V	ENST00000296575	NM_022475.2	164	gCg/gTg	0	T:0.0002	.	.	.	.	T	A/V	protein_coding	YES	CCDS3762.1	491	RADIA|MUTECT|MUSE|VARSCANS	.	AACTGCGGATG	NONE	byCluster	.	Pfam_domain:PF03024,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27	.	T:0	ENSP00000296575	.	3/13	.	.	.	.	.	.	.	.	rs149715142	3/13	PASS	ENST00000296575	Transcript	1	.	ENSG00000164161	14866	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.57)	.	HHIP_HUMAN	HHIP	HGNC	.	.	UPI0000071302	SNV	HHIP,missense_variant,p.Ala164Val,ENST00000296575,;HHIP,missense_variant,p.Ala164Val,ENST00000434550,;HHIP-AS1,intron_variant,,ENST00000512359,;HHIP,non_coding_transcript_exon_variant,,ENST00000511314,;HHIP,non_coding_transcript_exon_variant,,ENST00000509630,;HHIP,non_coding_transcript_exon_variant,,ENST00000515080,;HHIP,intron_variant,,ENST00000505891,;	1146	111	90	SUCCESS
RBM46	166863	.	GRCh37	4	155719022	155719022	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	31	137	0	ENST00000281722.3:c.211G>C	p.Asp71His	p.D71H	ENST00000281722	NM_144979.4	71	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS3790.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGATATG	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF272,PROSITE_profiles:PS50102	.	.	ENSP00000281722	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000281722	Transcript	.	.	ENSG00000151962	28401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	RBM46_HUMAN	RBM46	HGNC	D6RF41_HUMAN	.	UPI000007173F	SNV	RBM46,missense_variant,p.Asp71His,ENST00000510397,;RBM46,missense_variant,p.Asp71His,ENST00000281722,;RBM46,missense_variant,p.Asp71His,ENST00000514866,;RBM46,missense_variant,p.Asp71His,ENST00000512640,;	446	137	118	SUCCESS
TLL1	7092	.	GRCh37	4	166999180	166999180	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	59	0	ENST00000061240.2:c.2440T>A	p.Leu814Ile	p.L814I	ENST00000061240	NM_012464.4	814	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3811.1	2440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAATTAGTA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.21)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Leu814Ile,ENST00000061240,;TLL1,missense_variant,p.Leu837Ile,ENST00000507499,;TLL1,splice_region_variant,,ENST00000509505,;	3087	60	81	SUCCESS
FRG1	2483	.	GRCh37	4	190876266	190876266	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	509	22	610	1	ENST00000226798.4:c.392C>A	p.Ala131Glu	p.A131E	ENST00000226798	NM_004477.2	131	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS34121.1	392	MUTECT|MUSE	.	AGATGCAATTG	NONE	.	.	hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Gene3D:2.80.10.50,Pfam_domain:PF06229,Superfamily_domains:SSF50405	.	.	ENSP00000226798	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000226798	Transcript	1	.	ENSG00000109536	3954	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	FRG1_HUMAN	FRG1	HGNC	E9PRR7_HUMAN	.	UPI000012AC04	SNV	FRG1,missense_variant,p.Ala68Glu,ENST00000531991,;FRG1,missense_variant,p.Ala131Glu,ENST00000226798,;FRG1,intron_variant,,ENST00000524583,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,3_prime_UTR_variant,,ENST00000533157,;	614	611	532	SUCCESS
CHRNA9	55584	.	GRCh37	4	40351066	40351066	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	46	184	0	ENST00000310169.2:c.533A>G	p.Tyr178Cys	p.Y178C	ENST00000310169	NM_017581.3	178	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3459.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTACAATG	NONE	.	.	hmmpanther:PTHR18945:SF214,hmmpanther:PTHR18945,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000312663	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000310169	Transcript	.	.	ENSG00000174343	14079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ACHA9_HUMAN	CHRNA9	HGNC	.	.	UPI000013EFB8	SNV	CHRNA9,missense_variant,p.Tyr178Cys,ENST00000310169,;CHRNA9,upstream_gene_variant,,ENST00000509518,;CHRNA9,downstream_gene_variant,,ENST00000502377,;	672	184	180	SUCCESS
KDR	3791	.	GRCh37	4	55955862	55955862	+	synonymous_variant	Silent	SNP	G	G	A	rs759365650	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	128	0	ENST00000263923.4:c.3300C>T	p.Ser1100=	p.S1100=	ENST00000263923	NM_002253.2	1100	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3497.1	3300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAGGAAAA	CODON|p.S1100F|c.3299C>T|4	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000263923	.	24/30	.	.	.	.	.	.	.	.	rs759365650	24/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,synonymous_variant,p.%3D,ENST00000263923,;RP11-530I17.1,intron_variant,,ENST00000511222,;	3596	128	108	SUCCESS
EXOC1	55763	.	GRCh37	4	56759928	56759928	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	73	0	ENST00000346134.7:c.1935G>A	p.Arg645=	p.R645=	ENST00000346134	NM_018261.3	645	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS3502.1	1935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGAACTT	NONE	.	.	hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19,Pfam_domain:PF09763	.	.	ENSP00000370695	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000381295	Transcript	.	.	ENSG00000090989	30380	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOC1_HUMAN	EXOC1	HGNC	.	.	UPI000013574F	SNV	EXOC1,synonymous_variant,p.%3D,ENST00000381295,;EXOC1,synonymous_variant,p.%3D,ENST00000349598,;EXOC1,synonymous_variant,p.%3D,ENST00000346134,;EXOC1,non_coding_transcript_exon_variant,,ENST00000511971,;EXOC1,downstream_gene_variant,,ENST00000504321,;EXOC1,downstream_gene_variant,,ENST00000509302,;	2283	73	69	SUCCESS
AASDH	132949	.	GRCh37	4	57204730	57204730	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	45	162	0	ENST00000205214.6:c.3135G>T	p.Gly1045=	p.G1045=	ENST00000205214	NM_181806.2	1045	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3504.1	3135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCCCATC	NONE	.	.	Superfamily_domains:SSF50998,SMART_domains:SM00564,Gene3D:2.140.10.10,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,synonymous_variant,p.%3D,ENST00000434343,;AASDH,synonymous_variant,p.%3D,ENST00000205214,;AASDH,synonymous_variant,p.%3D,ENST00000513376,;AASDH,3_prime_UTR_variant,,ENST00000451613,;AASDH,downstream_gene_variant,,ENST00000602986,;AASDH,3_prime_UTR_variant,,ENST00000514745,;AASDH,downstream_gene_variant,,ENST00000503808,;	3316	162	168	SUCCESS
TMPRSS11F	389208	.	GRCh37	4	68934361	68934361	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	38	86	0	ENST00000356291.2:c.730C>A	p.Leu244Ile	p.L244I	ENST00000356291	NM_207407.2	244	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS3520.1	730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAGCAGCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF64,hmmpanther:PTHR24256,PROSITE_patterns:PS00134,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000348639	.	7/10	.	.	.	.	.	.	.	.	COSM1056803	7/10	PASS	ENST00000356291	Transcript	.	.	ENSG00000198092	29994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.447)	.	tolerated(0.06)	1	TM11F_HUMAN	TMPRSS11F	HGNC	.	.	UPI0000251DE7	SNV	TMPRSS11F,missense_variant,p.Leu244Ile,ENST00000356291,;UBA6-AS1,intron_variant,,ENST00000511571,;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000499180,;	790	86	126	SUCCESS
ALB	213	.	GRCh37	4	74270094	74270094	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	253	57	314	1	ENST00000295897.4:c.50A>G	p.Tyr17Cys	p.Y17C	ENST00000295897	NM_000477.5	17	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3555.1	50	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTATTCCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PIRSF_domain:PIRSF002520	.	.	ENSP00000295897	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.76)	.	tolerated(0.11)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Tyr17Cys,ENST00000509063,;ALB,missense_variant,p.Tyr17Cys,ENST00000415165,;ALB,missense_variant,p.Tyr17Cys,ENST00000295897,;ALB,missense_variant,p.Tyr19Cys,ENST00000441319,;ALB,missense_variant,p.Tyr17Cys,ENST00000401494,;ALB,5_prime_UTR_variant,,ENST00000503124,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,intron_variant,,ENST00000514786,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,missense_variant,p.Tyr17Cys,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;	139	315	310	SUCCESS
RASSF6	166824	.	GRCh37	4	74451010	74451010	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	69	239	0	ENST00000342081.3:c.550A>C	p.Arg184=	p.R184=	ENST00000342081	NM_201431.2	184	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3558.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTATAGA	NONE	.	.	hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF3	.	.	ENSP00000340578	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000342081	Transcript	.	.	ENSG00000169435	20796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF6_HUMAN	RASSF6	HGNC	.	.	UPI00001C0C6F	SNV	RASSF6,synonymous_variant,p.%3D,ENST00000395777,;RASSF6,synonymous_variant,p.%3D,ENST00000307439,;RASSF6,synonymous_variant,p.%3D,ENST00000335049,;RASSF6,synonymous_variant,p.%3D,ENST00000342081,;	681	239	225	SUCCESS
FBN2	2201	.	GRCh37	5	127727761	127727761	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs748051713	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	159	0	ENST00000262464.4:c.1553G>C	p.Arg518Pro	p.R518P	ENST00000262464	NM_001999.3	518	cGa/cCa	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS34222.1	1553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCGGTAG	NONE	byFrequency	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	17/71	.	.	.	.	.	.	.	.	rs748051713	17/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Arg518Pro,ENST00000262464,;FBN2,missense_variant,p.Arg518Pro,ENST00000508053,;FBN2,missense_variant,p.Arg485Pro,ENST00000508989,;	2528	159	120	SUCCESS
KDM3B	51780	.	GRCh37	5	137759953	137759953	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	64	216	0	ENST00000314358.5:c.4162G>T	p.Gly1388Trp	p.G1388W	ENST00000314358	NM_016604.3	1388	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS34242.1	4162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGGGAGG	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,Superfamily_domains:SSF51197	.	.	ENSP00000326563	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.Gly420Trp,ENST00000542866,;KDM3B,missense_variant,p.Gly1388Trp,ENST00000314358,;KDM3B,missense_variant,p.Gly1044Trp,ENST00000394866,;KDM3B,downstream_gene_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,non_coding_transcript_exon_variant,,ENST00000505756,;KDM3B,upstream_gene_variant,,ENST00000509468,;	4362	216	229	SUCCESS
KDM3B	51780	.	GRCh37	5	137759954	137759954	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	63	216	0	ENST00000314358.5:c.4163G>T	p.Gly1388Val	p.G1388V	ENST00000314358	NM_016604.3	1388	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34242.1	4163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGGAGGC	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,Superfamily_domains:SSF51197	.	.	ENSP00000326563	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.Gly420Val,ENST00000542866,;KDM3B,missense_variant,p.Gly1388Val,ENST00000314358,;KDM3B,missense_variant,p.Gly1044Val,ENST00000394866,;KDM3B,downstream_gene_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,non_coding_transcript_exon_variant,,ENST00000505756,;KDM3B,upstream_gene_variant,,ENST00000509468,;	4363	216	227	SUCCESS
PCDHA2	56146	.	GRCh37	5	140176834	140176834	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	50	159	0	ENST00000526136.1:c.2285A>T	p.Glu762Val	p.E762V	ENST00000526136	NM_018905.2	762	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54914.1	2285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGAGGACC	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0.01)	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,missense_variant,p.Glu762Val,ENST00000378132,;PCDHA2,missense_variant,p.Glu762Val,ENST00000526136,;PCDHA2,missense_variant,p.Glu762Val,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,upstream_gene_variant,,ENST00000532566,;PCDHA3,upstream_gene_variant,,ENST00000522353,;	2285	159	181	SUCCESS
PCDHA6	56142	.	GRCh37	5	140208267	140208267	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	76	0	ENST00000529310.1:c.591G>A	p.Lys197=	p.K197=	ENST00000529310	NM_018909.2	197	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS47281.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAGAAATC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	COSM262773,COSM262774	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,synonymous_variant,p.%3D,ENST00000527624,;PCDHA6,synonymous_variant,p.%3D,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA5,downstream_gene_variant,,ENST00000378126,;	705	76	70	SUCCESS
RELL2	285613	.	GRCh37	5	141019591	141019591	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	24	0	ENST00000297164.3:c.608G>T	p.Gly203Val	p.G203V	ENST00000297164	NM_173828.4	203	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4265.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGTGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31481	.	.	ENSP00000297164	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000297164	Transcript	.	.	ENSG00000164620	26902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0)	.	RELL2_HUMAN	RELL2	HGNC	E5RFS6_HUMAN	.	UPI00000733D0	SNV	RELL2,missense_variant,p.Gly137Val,ENST00000521367,;RELL2,missense_variant,p.Gly203Val,ENST00000297164,;RELL2,missense_variant,p.Gly137Val,ENST00000518856,;RELL2,missense_variant,p.Gly203Val,ENST00000444782,;FCHSD1,3_prime_UTR_variant,,ENST00000435817,;HDAC3,upstream_gene_variant,,ENST00000523088,;FCHSD1,downstream_gene_variant,,ENST00000522783,;HDAC3,upstream_gene_variant,,ENST00000305264,;FCHSD1,downstream_gene_variant,,ENST00000518499,;FCHSD1,downstream_gene_variant,,ENST00000522126,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;RELL2,non_coding_transcript_exon_variant,,ENST00000518025,;RELL2,non_coding_transcript_exon_variant,,ENST00000520674,;FCHSD1,downstream_gene_variant,,ENST00000518160,;RELL2,downstream_gene_variant,,ENST00000517794,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000520747,;HDAC3,upstream_gene_variant,,ENST00000519474,;HDAC3,upstream_gene_variant,,ENST00000495485,;HDAC3,upstream_gene_variant,,ENST00000492506,;HDAC3,upstream_gene_variant,,ENST00000469550,;	1808	24	40	SUCCESS
KCTD16	57528	.	GRCh37	5	143586733	143586733	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	68	0	ENST00000507359.3:c.456C>T	p.Pro152=	p.P152=	ENST00000507359	NM_020768.3	152	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34260.1	456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCCCTTC	NONE	.	.	hmmpanther:PTHR14499:SF28,hmmpanther:PTHR14499	.	.	ENSP00000426548	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000507359	Transcript	.	.	ENSG00000183775	29244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCD16_HUMAN	KCTD16	HGNC	.	.	UPI000004A046	SNV	KCTD16,synonymous_variant,p.%3D,ENST00000507359,;KCTD16,synonymous_variant,p.%3D,ENST00000512467,;	1547	68	68	SUCCESS
SLC36A1	206358	.	GRCh37	5	150843185	150843185	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	100	0	ENST00000243389.3:c.215T>A	p.Val72Glu	p.V72E	ENST00000243389	NM_078483.2	72	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS4316.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGTGAAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF188,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000243389	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000243389	Transcript	.	.	ENSG00000123643	18761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	S36A1_HUMAN	SLC36A1	HGNC	H0YB60_HUMAN,E5RI40_HUMAN,E5RHG5_HUMAN,E5RG64_HUMAN,D2Y3F6_HUMAN	.	UPI00001A9D3C	SNV	SLC36A1,missense_variant,p.Val72Glu,ENST00000520111,;SLC36A1,missense_variant,p.Val72Glu,ENST00000429484,;SLC36A1,missense_variant,p.Val72Glu,ENST00000521925,;SLC36A1,missense_variant,p.Val72Glu,ENST00000520701,;SLC36A1,missense_variant,p.Val72Glu,ENST00000243389,;SLC36A1,incomplete_terminal_codon_variant,p.%3D,ENST00000519829,;SLC36A1,downstream_gene_variant,,ENST00000517945,;SLC36A1,non_coding_transcript_exon_variant,,ENST00000521351,;	438	100	96	SUCCESS
SLIT3	6586	.	GRCh37	5	168244433	168244433	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772643613	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	37	0	ENST00000519560.1:c.665A>T	p.His222Leu	p.H222L	ENST00000519560	NM_003062.3	222	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS4369.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTGGCAG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,SMART_domains:SM00082,SMART_domains:SM00368	.	.	ENSP00000430333	.	8/36	.	.	.	.	.	.	.	.	rs772643613	8/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.357)	.	deleterious(0)	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,missense_variant,p.His222Leu,ENST00000332966,;SLIT3,missense_variant,p.His222Leu,ENST00000519560,;SLIT3,missense_variant,p.His222Leu,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521150,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;	1085	37	61	SUCCESS
GRM6	2916	.	GRCh37	5	178413645	178413645	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000231188.5:c.1610G>A	p.Cys537Tyr	p.C537Y	ENST00000231188	NM_000843.3	537	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS4442.1	1610	MUTECT|MUSE	.	GCCAACAGCAG	NONE	.	.	Pfam_domain:PF07562,PROSITE_patterns:PS00980,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	.	.	ENSP00000231188	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000231188	Transcript	1	.	ENSG00000113262	4598	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRM6_HUMAN	GRM6	HGNC	.	.	UPI000013C947	SNV	GRM6,missense_variant,p.Cys537Tyr,ENST00000231188,;GRM6,missense_variant,p.Cys537Tyr,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,non_coding_transcript_exon_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	1789	8	11	SUCCESS
PDZD2	23037	.	GRCh37	5	31983740	31983740	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	40	149	0	ENST00000438447.1:c.956A>T	p.Gln319Leu	p.Q319L	ENST00000438447		319	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS34137.1	956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAATCGA	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	.	.	ENSP00000402033	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	tolerated(0.06)	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,missense_variant,p.Gln319Leu,ENST00000438447,;PDZD2,missense_variant,p.Gln319Leu,ENST00000282493,;PDZD2,downstream_gene_variant,,ENST00000513852,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	1344	149	142	SUCCESS
MCCC2	64087	.	GRCh37	5	70936898	70936898	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	78	0	ENST00000340941.6:c.1068T>A	p.Val356=	p.V356=	ENST00000340941	NM_022132.4	356	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34184.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTTACAGG	NONE	.	.	PROSITE_profiles:PS50989,hmmpanther:PTHR22855,hmmpanther:PTHR22855:SF13,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000343657	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000340941	Transcript	1	.	ENSG00000131844	6937	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCCB_HUMAN	MCCC2	HGNC	.	.	UPI000012ED69	SNV	MCCC2,synonymous_variant,p.%3D,ENST00000509358,;MCCC2,synonymous_variant,p.%3D,ENST00000340941,;MCCC2,synonymous_variant,p.%3D,ENST00000323375,;MCCC2,intron_variant,,ENST00000509539,;MCCC2,non_coding_transcript_exon_variant,,ENST00000505435,;MCCC2,downstream_gene_variant,,ENST00000510895,;MCCC2,synonymous_variant,p.%3D,ENST00000512218,;	1197	78	84	SUCCESS
SLC22A16	85413	.	GRCh37	6	110763664	110763664	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	58	0	ENST00000368919.3:c.966G>A	p.Leu322=	p.L322=	ENST00000368919	NM_033125.3	322	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5084.1	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACAGTTT	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF00083,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF206,PROSITE_profiles:PS50850	.	.	ENSP00000357915	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000368919	Transcript	.	.	ENSG00000004809	20302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AG_HUMAN	SLC22A16	HGNC	Q96ER0_HUMAN,C9JU94_HUMAN,C9JGT0_HUMAN	.	UPI000000DC13	SNV	SLC22A16,synonymous_variant,p.%3D,ENST00000368919,;SLC22A16,synonymous_variant,p.%3D,ENST00000330550,;SLC22A16,synonymous_variant,p.%3D,ENST00000434949,;SLC22A16,synonymous_variant,p.%3D,ENST00000437378,;SLC22A16,synonymous_variant,p.%3D,ENST00000439654,;SLC22A16,synonymous_variant,p.%3D,ENST00000451557,;SLC22A16,3_prime_UTR_variant,,ENST00000456137,;SLC22A16,downstream_gene_variant,,ENST00000424139,;RN7SL617P,upstream_gene_variant,,ENST00000485298,;	1033	58	70	SUCCESS
GFOD1	54438	.	GRCh37	6	13470848	13470848	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	39	0	ENST00000379287.3:c.253+16022A>G		p.*85*	ENST00000379287	NM_018988.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4524.1	.	RADIA|MUTECT|VARSCANS	.	CTTCCTCTGAT	NONE	.	.	.	.	.	ENSP00000368589	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379287	Transcript	.	.	ENSG00000145990	21096	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GFOD1_HUMAN	GFOD1	HGNC	.	.	UPI0000072450	SNV	GFOD1,missense_variant,p.Arg90Gly,ENST00000603223,;AL583828.1,5_prime_UTR_variant,,ENST00000558378,;GFOD1,intron_variant,,ENST00000379287,;GFOD1,non_coding_transcript_exon_variant,,ENST00000379278,;GFOD1,non_coding_transcript_exon_variant,,ENST00000605067,;	.	39	38	SUCCESS
SLC22A2	6582	.	GRCh37	6	160679697	160679697	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	21	0	ENST00000366953.3:c.93T>A	p.Ala31=	p.A31=	ENST00000366953	NM_003058.3	31	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5276.1	93	SOMATICSNIPER|MUTECT|MUSE	.	AAGGTAGCCGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF173,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	.	.	ENSP00000355920	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000366953	Transcript	.	.	ENSG00000112499	10966	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S22A2_HUMAN	SLC22A2	HGNC	Q5T7Q5_HUMAN	.	UPI000013D5BB	SNV	SLC22A2,synonymous_variant,p.%3D,ENST00000366952,;SLC22A2,synonymous_variant,p.%3D,ENST00000366953,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000489644,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000491092,;	352	21	13	SUCCESS
SLC17A1	6568	.	GRCh37	6	25811931	25811931	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	71	0	ENST00000244527.4:c.965C>T	p.Ser322Leu	p.S322L	ENST00000244527	NM_005074.3	322	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS4565.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTGATAAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Pfam_domain:PF07690,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00894,Superfamily_domains:SSF103473	.	.	ENSP00000244527	.	9/13	.	.	.	.	.	.	.	.	COSM740945	9/13	PASS	ENST00000244527	Transcript	.	.	ENSG00000124568	10929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.543)	.	deleterious(0)	1	NPT1_HUMAN	SLC17A1	HGNC	Q96PF5_HUMAN,Q96KL5_HUMAN	.	UPI00000719C0	SNV	SLC17A1,missense_variant,p.Ser322Leu,ENST00000476801,;SLC17A1,missense_variant,p.Ser268Leu,ENST00000427328,;SLC17A1,missense_variant,p.Ser268Leu,ENST00000468082,;SLC17A1,missense_variant,p.Ser322Leu,ENST00000244527,;SLC17A1,3_prime_UTR_variant,,ENST00000377886,;	1081	71	66	SUCCESS
HIST1H3B	0	.	GRCh37	6	26032209	26032209	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	30	0	ENST00000244661.2:c.80G>A	p.Arg27His	p.R27H	ENST00000244661	NM_003537.3	27	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS4573.1	80	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGAGCA	BUFFER|p.K28M|c.83A>T|14	.	.	hmmpanther:PTHR11426,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000244661	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244661	Transcript	.	.	ENSG00000124693	4776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.1)	.	H31_HUMAN	HIST1H3B	HGNC	.	.	UPI00000003C7	SNV	HIST1H3B,missense_variant,p.Arg27His,ENST00000244661,;HIST1H2AB,downstream_gene_variant,,ENST00000259791,;HIST1H4B,upstream_gene_variant,,ENST00000377364,;	80	30	25	SUCCESS
MUC21	394263	.	GRCh37	6	30951694	30951694	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	83	0	ENST00000376296.3:c.-42T>C		p.*14*	ENST00000376296	NM_001010909.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34388.1	.	RADIA|MUTECT|MUSE	.	GTACATCTAGG	NONE	.	.	.	.	.	ENSP00000365473	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376296	Transcript	.	.	ENSG00000204544	21661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC21_HUMAN	MUC21	HGNC	.	.	UPI000047030C	SNV	MUC21,5_prime_UTR_variant,,ENST00000376296,;MUC21,5_prime_UTR_variant,,ENST00000486149,;	200	83	84	SUCCESS
GSTA4	2941	.	GRCh37	6	52858985	52858985	+	synonymous_variant	Silent	SNP	C	C	A	rs1296840446	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	33	0	ENST00000370959.1:c.57G>T	p.Val19=	p.V19=	ENST00000370959		19	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4948.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTCACGGA	NONE	.	.	Prints_domain:PR01266,Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF02798,hmmpanther:PTHR11571:SF123,hmmpanther:PTHR11571,PROSITE_profiles:PS50404	.	.	ENSP00000360002	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000370963	Transcript	.	.	ENSG00000170899	4629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTA4_HUMAN	GSTA4	HGNC	Q6P4G1_HUMAN,Q5JW88_HUMAN,B3KNR3_HUMAN	.	UPI00001119FD	SNV	GSTA4,synonymous_variant,p.%3D,ENST00000370963,;GSTA4,synonymous_variant,p.%3D,ENST00000370959,;GSTA4,5_prime_UTR_variant,,ENST00000370960,;GSTA4,5_prime_UTR_variant,,ENST00000457564,;GSTA4,5_prime_UTR_variant,,ENST00000541324,;RN7SK,upstream_gene_variant,,ENST00000365328,;GSTA4,non_coding_transcript_exon_variant,,ENST00000477599,;	205	33	44	SUCCESS
IMPG1	3617	.	GRCh37	6	76715138	76715138	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	71	309	0	ENST00000369950.3:c.1001A>T	p.Glu334Val	p.E334V	ENST00000369950	NM_001563.2	334	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4985.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTTCCTCA	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR12199,Pfam_domain:PF01390,SMART_domains:SM00200	.	.	ENSP00000358966	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000369950	Transcript	.	.	ENSG00000112706	6055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.33)	.	IMPG1_HUMAN	IMPG1	HGNC	H0UI08_HUMAN	.	UPI0000073F12	SNV	IMPG1,missense_variant,p.Glu334Val,ENST00000369950,;IMPG1,3_prime_UTR_variant,,ENST00000369963,;	1191	309	324	SUCCESS
RNF133	168433	.	GRCh37	7	122338762	122338763	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	40	0	ENST00000340112.2:c.210_211del	p.Arg70SerfsTer17	p.R70Sfs*17	ENST00000340112	NM_139175.1	70	agAGtg/agtg	0	.	.	.	.	.	-	RV/SX	protein_coding	YES	CCDS5784.1	210-211	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCCACTCTCTT	NONE	.	.	hmmpanther:PTHR22765:SF38,hmmpanther:PTHR22765	.	.	ENSP00000344489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340112	Transcript	.	.	ENSG00000188050	21154	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN133_HUMAN	RNF133	HGNC	.	.	UPI0000070D9A	deletion	RNF133,frameshift_variant,p.Arg70SerfsTer17,ENST00000340112,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000412584,;CADPS2,intron_variant,,ENST00000313070,;RNF148,downstream_gene_variant,,ENST00000447240,;RNF148,downstream_gene_variant,,ENST00000434824,;	448-449	40	62	SUCCESS
SPAM1	6677	.	GRCh37	7	123594252	123594252	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376151172	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	132	0	ENST00000223028.7:c.628C>T	p.Leu210Phe	p.L210F	ENST00000223028		210	Ctt/Ttt	0	A:0.0002	.	.	.	.	T	L/F	protein_coding	YES	CCDS5790.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTACTTCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11769:SF20,hmmpanther:PTHR11769,Pfam_domain:PF01630,Gene3D:3.20.20.70,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445,Prints_domain:PR00846	.	A:0.0002	ENSP00000345849	.	3/7	.	.	.	.	.	.	.	.	rs376151172	3/7	PASS	ENST00000340011	Transcript	.	.	ENSG00000106304	11217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	deleterious(0.01)	.	HYALP_HUMAN	SPAM1	HGNC	C9J2X5_HUMAN	.	UPI0000072166	SNV	SPAM1,missense_variant,p.Leu210Phe,ENST00000223028,;SPAM1,missense_variant,p.Leu210Phe,ENST00000460182,;SPAM1,missense_variant,p.Leu210Phe,ENST00000439500,;SPAM1,missense_variant,p.Leu210Phe,ENST00000340011,;SPAM1,missense_variant,p.Leu210Phe,ENST00000402183,;SPAM1,downstream_gene_variant,,ENST00000413927,;	985	132	106	SUCCESS
KDM7A	80853	.	GRCh37	7	139819020	139819020	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	101	0	ENST00000397560.2:c.1140-1G>T		p.X380_splice	ENST00000397560	NM_030647.1	380		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43658.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACCTAAAT	NONE	.	.	.	.	.	ENSP00000380692	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	HIGH	8/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,splice_acceptor_variant,,ENST00000006967,;KDM7A,splice_acceptor_variant,,ENST00000397560,;KDM7A,upstream_gene_variant,,ENST00000472616,;	.	101	74	SUCCESS
TAS2R40	259286	.	GRCh37	7	142919945	142919945	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	28	138	1	ENST00000408947.3:c.774C>T	p.Phe258=	p.F258=	ENST00000408947	NM_176882.1	258	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS43662.1	774	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCAATGC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF59,hmmpanther:PTHR11394,Transmembrane_helices:TMhelix	.	.	ENSP00000386210	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408947	Transcript	.	.	ENSG00000221937	18885	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T2R40_HUMAN	TAS2R40	HGNC	Q50KK6_HUMAN,Q50KK5_HUMAN	.	UPI000000D7CA	SNV	TAS2R40,synonymous_variant,p.%3D,ENST00000408947,;AC073342.1,upstream_gene_variant,,ENST00000595842,;	816	139	149	SUCCESS
ZMIZ2	83637	.	GRCh37	7	44795852	44795852	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	61	0	ENST00000309315.4:c.4A>T	p.Asn2Tyr	p.N2Y	ENST00000309315	NM_031449.3	2	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS43576.1	4	RADIA|MUTECT|MUSE|VARSCANS	.	CAATGAACTCC	NONE	.	.	hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF38	.	.	ENSP00000311778	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000309315	Transcript	.	.	ENSG00000122515	22229	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0)	.	ZMIZ2_HUMAN	ZMIZ2	HGNC	C9JDA5_HUMAN,B3KR25_HUMAN	.	UPI00001D747B	SNV	ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000457123,;ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000265346,;ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000433667,;ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000413916,;ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000441627,;ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000309315,;ZMIZ2,missense_variant,p.Asn2Tyr,ENST00000416856,;ZMIZ2,non_coding_transcript_exon_variant,,ENST00000492001,;ZMIZ2,upstream_gene_variant,,ENST00000463056,;ZMIZ2,upstream_gene_variant,,ENST00000478045,;	127	61	79	SUCCESS
ABCA13	154664	.	GRCh37	7	48318705	48318705	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	62	0	ENST00000435803.1:c.7914T>A	p.Ile2638=	p.I2638=	ENST00000435803	NM_152701.3	2638	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47584.1	7914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATTGCTGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	18/62	.	.	.	.	.	.	.	.	.	18/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;	7938	62	69	SUCCESS
C7orf72	0	.	GRCh37	7	50135895	50135895	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	51	219	0	ENST00000297001.6:c.214C>T	p.Pro72Ser	p.P72S	ENST00000297001	NM_001161834.2	72	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47585.1	214	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCCTTCA	NONE	.	.	.	.	.	ENSP00000297001	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000297001	Transcript	.	.	ENSG00000164500	22564	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.103)	.	tolerated(0.06)	.	CG072_HUMAN	C7orf72	HGNC	.	.	UPI00001D7424	SNV	C7orf72,missense_variant,p.Pro72Ser,ENST00000297001,;ZPBP,intron_variant,,ENST00000450231,;ZPBP,upstream_gene_variant,,ENST00000419417,;ZPBP,upstream_gene_variant,,ENST00000046087,;ZPBP,upstream_gene_variant,,ENST00000413331,;	264	219	236	SUCCESS
TG	7038	.	GRCh37	8	133941375	133941375	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1226127208	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	45	133	0	ENST00000220616.4:c.4754C>T	p.Ala1585Val	p.A1585V	ENST00000220616	NM_003235.4	1585	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34944.1	4754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGCTCCTG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.43)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Ala1585Val,ENST00000220616,;TG,missense_variant,p.Ala1528Val,ENST00000377869,;TG,missense_variant,p.Ala19Val,ENST00000542445,;TG,missense_variant,p.Ala105Val,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;	4794	133	158	SUCCESS
GPR124	0	.	GRCh37	8	37693203	37693203	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	16	0	ENST00000412232.2:c.1965C>G	p.His655Gln	p.H655Q	ENST00000412232	NM_032777.9	655	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS6097.2	1965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACAGCCA	NONE	.	.	hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011	.	.	ENSP00000406367	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.29)	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,missense_variant,p.His655Gln,ENST00000412232,;GPR124,intron_variant,,ENST00000315215,;	1978	16	41	SUCCESS
POTEA	340441	.	GRCh37	8	43152221	43152221	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	21	156	0	ENST00000519951.2:n.360G>A		p.*120*	ENST00000519951				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGACAGA	NONE	.	.	.	.	.	.	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000519951	Transcript	.	.	ENSG00000188877	33893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	POTEA	HGNC	.	.	.	SNV	POTEA,non_coding_transcript_exon_variant,,ENST00000522175,;POTEA,non_coding_transcript_exon_variant,,ENST00000519951,;	360	156	131	SUCCESS
SPIDR	23514	.	GRCh37	8	48508456	48508456	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs753348456	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	28	143	0	ENST00000297423.4:c.1181C>G	p.Ser394Ter	p.S394*	ENST00000297423	NM_001080394.2	394	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS43737.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCAGAAA	NONE	.	.	.	.	.	ENSP00000297423	.	9/20	.	.	.	.	.	.	.	.	rs753348456	9/20	PASS	ENST00000297423	Transcript	.	.	ENSG00000164808	28971	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIDR_HUMAN	SPIDR	HGNC	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN	.	UPI0000253B92	SNV	SPIDR,stop_gained,p.Ser83Ter,ENST00000524006,;SPIDR,stop_gained,p.Ser324Ter,ENST00000541342,;SPIDR,stop_gained,p.Ser394Ter,ENST00000297423,;SPIDR,stop_gained,p.Ser76Ter,ENST00000519401,;SPIDR,stop_gained,p.Ser334Ter,ENST00000518074,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000519661,;SPIDR,3_prime_UTR_variant,,ENST00000524033,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;RP11-697N18.2,upstream_gene_variant,,ENST00000517810,;	1565	143	106	SUCCESS
TRPA1	8989	.	GRCh37	8	72975034	72975034	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	57	237	0	ENST00000262209.4:c.807G>T	p.Glu269Asp	p.E269D	ENST00000262209	NM_007332.2	269	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS34908.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCTCCAC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Glu121Asp,ENST00000523582,;TRPA1,missense_variant,p.Glu269Asp,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519068,;	1015	237	221	SUCCESS
FKBP15	23307	.	GRCh37	9	115948581	115948581	+	synonymous_variant	Silent	SNP	C	C	T	rs1263730880	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	64	0	ENST00000238256.3:c.1446G>A	p.Gln482=	p.Q482=	ENST00000238256	NM_015258.1	482	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS48007.1	1446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGCTGCAG	NONE	.	.	hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF178	.	.	ENSP00000238256	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000238256	Transcript	.	.	ENSG00000119321	23397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKB15_HUMAN	FKBP15	HGNC	B4DZS8_HUMAN	.	UPI000022D996	SNV	FKBP15,synonymous_variant,p.%3D,ENST00000238256,;FKBP15,synonymous_variant,p.%3D,ENST00000446284,;FKBP15,downstream_gene_variant,,ENST00000414250,;FKBP15,non_coding_transcript_exon_variant,,ENST00000489645,;	1564	64	76	SUCCESS
BNC2	54796	.	GRCh37	9	16738381	16738381	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746074143	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	52	150	0	ENST00000380672.4:c.106G>T	p.Gly36Trp	p.G36W	ENST00000380672	NM_017637.5	36	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS6482.2	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCACAAC	NONE	.	.	.	.	.	ENSP00000370047	.	2/7	.	.	.	.	.	.	.	.	rs746074143	2/7	PASS	ENST00000380672	Transcript	.	.	ENSG00000173068	30988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,missense_variant,p.Gly36Trp,ENST00000380667,;BNC2,missense_variant,p.Gly36Trp,ENST00000380672,;BNC2,missense_variant,p.Gly36Trp,ENST00000380666,;BNC2,intron_variant,,ENST00000545497,;BNC2,intron_variant,,ENST00000486514,;BNC2,missense_variant,p.Gly36Trp,ENST00000484726,;	164	150	158	SUCCESS
CBWD5	220869	.	GRCh37	9	70484455	70484455	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	444	62	527	0	ENST00000382405.3:c.258del	p.Lys86AsnfsTer3	p.K86Nfs*3	ENST00000382405		86	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS43831.1	258	INDELOCATOR|VARSCANI	.	TAAGGATTTCTC	NONE	.	.	hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF35,Pfam_domain:PF02492,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000366612	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000377395	Transcript	.	.	ENSG00000147996	24584	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBWD5_HUMAN	CBWD5	HGNC	S4R432_HUMAN,Q5RIB5_HUMAN,Q5JTY0_HUMAN	.	UPI0000E9B4A4	deletion	CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000430059,;CBWD5,frameshift_variant,p.Lys50AsnfsTer3,ENST00000377392,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000377384,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000377395,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000429800,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000382405,;CBWD5,non_coding_transcript_exon_variant,,ENST00000441808,;CBWD5,downstream_gene_variant,,ENST00000464913,;CBWD5,upstream_gene_variant,,ENST00000472916,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000476161,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000480229,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000486221,;CBWD5,frameshift_variant,p.Lys86AsnfsTer3,ENST00000497250,;CBWD5,3_prime_UTR_variant,,ENST00000465474,;CBWD5,3_prime_UTR_variant,,ENST00000469921,;CBWD5,3_prime_UTR_variant,,ENST00000377389,;CBWD5,non_coding_transcript_exon_variant,,ENST00000377380,;CBWD5,non_coding_transcript_exon_variant,,ENST00000478650,;CBWD5,non_coding_transcript_exon_variant,,ENST00000382404,;CBWD5,downstream_gene_variant,,ENST00000486466,;	297	527	506	SUCCESS
GKAP1	80318	.	GRCh37	9	86403523	86403523	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs745913937	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	63	0	ENST00000376371.2:c.431A>G	p.His144Arg	p.H144R	ENST00000376371	NM_025211.3	144	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS35049.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTGCTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14899,Prints_domain:PR02083	.	.	ENSP00000365550	.	5/13	.	.	.	.	.	.	.	.	rs745913937	5/13	PASS	ENST00000376371	Transcript	.	.	ENSG00000165113	17496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.19)	.	GKAP1_HUMAN	GKAP1	HGNC	C9J9D2_HUMAN	.	UPI000007224D	SNV	GKAP1,missense_variant,p.His144Arg,ENST00000376365,;GKAP1,missense_variant,p.His144Arg,ENST00000376371,;GKAP1,non_coding_transcript_exon_variant,,ENST00000491634,;GKAP1,3_prime_UTR_variant,,ENST00000388782,;	832	63	49	SUCCESS
CDC14B	8555	.	GRCh37	9	99285642	99285642	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	51	199	0	ENST00000375241.1:c.1146G>C	p.Glu382Asp	p.E382D	ENST00000375241	NM_003671.3	382	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS6722.1	1146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTCCTG	NONE	.	.	hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF53	.	.	ENSP00000364389	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000375241	Transcript	.	.	ENSG00000081377	1719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.19)	.	CC14B_HUMAN	CDC14B	HGNC	.	.	UPI0000072924	SNV	CDC14B,missense_variant,p.Glu345Asp,ENST00000375242,;CDC14B,missense_variant,p.Glu382Asp,ENST00000265659,;CDC14B,missense_variant,p.Glu382Asp,ENST00000463569,;CDC14B,missense_variant,p.Glu382Asp,ENST00000375240,;CDC14B,missense_variant,p.Glu382Asp,ENST00000375236,;CDC14B,missense_variant,p.Glu382Asp,ENST00000375241,;CDC14B,upstream_gene_variant,,ENST00000481149,;CDC14B,missense_variant,p.Glu377Asp,ENST00000412285,;CDC14B,missense_variant,p.Glu382Asp,ENST00000474602,;	1598	199	200	SUCCESS
HCCS	3052	.	GRCh37	X	11139892	11139892	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	31	0	ENST00000321143.4:c.769G>C	p.Asp257His	p.D257H	ENST00000321143	NM_005333.4	257	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS14139.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGGACAGA	NONE	.	.	hmmpanther:PTHR12743,Pfam_domain:PF01265	.	.	ENSP00000326579	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000321143	Transcript	.	.	ENSG00000004961	4837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	CCHL_HUMAN	HCCS	HGNC	.	.	UPI00001272B7	SNV	HCCS,missense_variant,p.Asp257His,ENST00000380763,;HCCS,missense_variant,p.Asp257His,ENST00000380762,;HCCS,missense_variant,p.Asp257His,ENST00000321143,;ARHGAP6,intron_variant,,ENST00000534860,;	971	31	29	SUCCESS
PRPS2	5634	.	GRCh37	X	12838904	12838904	+	synonymous_variant	Silent	SNP	A	A	G	rs1463412760	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	31	0	ENST00000380668.5:c.846A>G	p.Lys282=	p.K282=	ENST00000380668	NM_001039091.2	282	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS43918.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAACACTG	NONE	.	.	HAMAP:MF_00583_B,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF30,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01251,Pfam_domain:PF14572,Superfamily_domains:SSF53271	.	.	ENSP00000381504	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000398491	Transcript	.	.	ENSG00000101911	9465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRPS2_HUMAN	PRPS2	HGNC	.	.	UPI000004A051	SNV	PRPS2,synonymous_variant,p.%3D,ENST00000380668,;PRPS2,synonymous_variant,p.%3D,ENST00000398491,;PRPS2,synonymous_variant,p.%3D,ENST00000461630,;	947	31	40	SUCCESS
MIR450A2	574505	.	GRCh37	X	133674546	133674546	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	107	285	0	ENST00000385022.1:n.92A>G		p.*31*	ENST00000385022				0	.	.	.	.	.	C	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTATTGATA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385022	Transcript	.	.	ENSG00000207755	32137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR450A2	HGNC	.	.	.	SNV	MIR450A2,non_coding_transcript_exon_variant,,ENST00000385022,;MIR503HG,downstream_gene_variant,,ENST00000445415,;MIR450B,upstream_gene_variant,,ENST00000401182,;MIR503HG,downstream_gene_variant,,ENST00000441492,;MIR450A1,upstream_gene_variant,,ENST00000362262,;MIR503HG,downstream_gene_variant,,ENST00000440570,;MIR503HG,downstream_gene_variant,,ENST00000457876,;MIR542,downstream_gene_variant,,ENST00000385050,;MIR503HG,downstream_gene_variant,,ENST00000414769,;	92	285	203	SUCCESS
SLC9A7	84679	.	GRCh37	X	46541903	46541903	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	47	0	ENST00000328306.4:c.393C>T	p.Ser131=	p.S131=	ENST00000328306	NM_001257291.1	131	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14269.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGCTGAG	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94,Pfam_domain:PF00999,Prints_domain:PR01088	.	.	ENSP00000330320	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000328306	Transcript	.	.	ENSG00000065923	17123	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9A7_HUMAN	SLC9A7	HGNC	.	.	UPI0000071389	SNV	SLC9A7,synonymous_variant,p.%3D,ENST00000328306,;YBX1P8,downstream_gene_variant,,ENST00000421881,;	419	47	40	SUCCESS
AKAP4	8852	.	GRCh37	X	49955717	49955717	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	62	0	ENST00000358526.2:c.2451T>A	p.Ser817Arg	p.S817R	ENST00000358526	NM_003886.2	817	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS14329.1	2451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACACTGTA	NONE	.	.	hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000351327	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000358526	Transcript	.	.	ENSG00000147081	374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	deleterious(0.01)	.	AKAP4_HUMAN	AKAP4	HGNC	.	.	UPI000013DA96	SNV	AKAP4,missense_variant,p.Ser817Arg,ENST00000358526,;AKAP4,missense_variant,p.Ser808Arg,ENST00000376056,;AKAP4,missense_variant,p.Ser808Arg,ENST00000376064,;AKAP4,missense_variant,p.Ser434Arg,ENST00000376058,;AKAP4,downstream_gene_variant,,ENST00000448865,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	2575	62	64	SUCCESS
DIP2C	22982	.	GRCh37	10	460026	460026	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	21	0	ENST00000280886.6:c.884del	p.Pro295GlnfsTer43	p.P295Qfs*43	ENST00000280886	NM_014974.2	295	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7054.1	884	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTTTGGTTGG	NONE	.	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25	.	.	ENSP00000280886	.	8/37	.	.	.	.	.	.	.	.	.	8/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	deletion	DIP2C,frameshift_variant,p.Pro188GlnfsTer43,ENST00000381496,;DIP2C,frameshift_variant,p.Pro295GlnfsTer43,ENST00000280886,;	972	21	48	SUCCESS
ARID5B	84159	.	GRCh37	10	63817024	63817024	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	50	153	0	ENST00000279873.7:c.995T>C	p.Met332Thr	p.M332T	ENST00000279873	NM_032199.2	332	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS31208.1	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACATGAAAG	NONE	.	.	PROSITE_profiles:PS51011,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22,Gene3D:1.10.150.60,Pfam_domain:PF01388,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774	.	.	ENSP00000279873	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,missense_variant,p.Met332Thr,ENST00000279873,;ARID5B,missense_variant,p.Met89Thr,ENST00000309334,;	1405	153	68	SUCCESS
KMT2A	4297	.	GRCh37	11	118373507	118373507	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	94	0	ENST00000534358.1:c.6900G>A	p.Val2300=	p.V2300=	ENST00000534358	NM_005933.3	2300	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55791.1	6900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGTCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,synonymous_variant,p.%3D,ENST00000389506,;KMT2A,synonymous_variant,p.%3D,ENST00000354520,;KMT2A,synonymous_variant,p.%3D,ENST00000534358,;KMT2A,non_coding_transcript_exon_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534085,;	6923	94	45	SUCCESS
SNX19	399979	.	GRCh37	11	130785772	130785772	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	94	0	ENST00000265909.4:c.63T>C	p.Asn21=	p.N21=	ENST00000265909	NM_014758.2	21	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS31721.1	63	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTATTGAG	NONE	.	.	.	.	.	ENSP00000265909	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,synonymous_variant,p.%3D,ENST00000533214,;SNX19,synonymous_variant,p.%3D,ENST00000265909,;SNX19,intron_variant,,ENST00000539184,;SNX19,intron_variant,,ENST00000528555,;SNX19,intron_variant,,ENST00000530356,;SNX19,intron_variant,,ENST00000533318,;SNX19,intron_variant,,ENST00000531608,;	633	94	44	SUCCESS
MRPL16	54948	.	GRCh37	11	59578260	59578260	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	26	0	ENST00000300151.4:c.-129C>T		p.*43*	ENST00000300151	NM_017840.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7976.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AAGTTGTGTTC	NONE	.	.	.	.	.	ENSP00000300151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000300151	Transcript	.	.	ENSG00000166902	14476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RM16_HUMAN	MRPL16	HGNC	E9PI14_HUMAN	.	UPI0000073D9D	SNV	MRPL16,5_prime_UTR_variant,,ENST00000300151,;STX3,downstream_gene_variant,,ENST00000535361,;MRPL16,upstream_gene_variant,,ENST00000534340,;MRPL16,upstream_gene_variant,,ENST00000531802,;MRPL16,upstream_gene_variant,,ENST00000525470,;	86	26	14	SUCCESS
SART3	9733	.	GRCh37	12	108926103	108926103	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	38	0	ENST00000228284.3:c.1564G>A	p.Gly522Ser	p.G522S	ENST00000228284	NM_014706.3	522	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS9117.1	1564	MUTECT|MUSE	.	GTCACCATGAG	NONE	.	.	Superfamily_domains:SSF48452,hmmpanther:PTHR23269,hmmpanther:PTHR23269:SF0	.	.	ENSP00000228284	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000228284	Transcript	.	.	ENSG00000075856	16860	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SART3_HUMAN	SART3	HGNC	H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN	.	UPI000006D72B	SNV	SART3,missense_variant,p.Gly522Ser,ENST00000228284,;SART3,missense_variant,p.Gly486Ser,ENST00000431469,;SART3,missense_variant,p.Gly540Ser,ENST00000546815,;SART3,3_prime_UTR_variant,,ENST00000547528,;SART3,3_prime_UTR_variant,,ENST00000546728,;SART3,non_coding_transcript_exon_variant,,ENST00000546808,;SART3,non_coding_transcript_exon_variant,,ENST00000548077,;SART3,non_coding_transcript_exon_variant,,ENST00000548582,;SART3,downstream_gene_variant,,ENST00000548119,;SART3,upstream_gene_variant,,ENST00000547196,;	1799	38	21	SUCCESS
C14orf37	0	.	GRCh37	14	58605153	58605153	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	181	0	ENST00000267485.7:c.924T>A	p.Ser308=	p.S308=	ENST00000267485	NM_001001872.2	308	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32089.1	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21585:SF0,hmmpanther:PTHR21585	.	.	ENSP00000267485	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000267485	Transcript	.	.	ENSG00000139971	19846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN037_HUMAN	C14orf37	HGNC	.	.	UPI000000CC37	SNV	C14orf37,synonymous_variant,p.%3D,ENST00000267485,;C14orf37,non_coding_transcript_exon_variant,,ENST00000557175,;C14orf37,non_coding_transcript_exon_variant,,ENST00000334342,;C14orf37,downstream_gene_variant,,ENST00000554218,;UBA52P3,upstream_gene_variant,,ENST00000491303,;	1119	181	73	SUCCESS
LPCAT4	254531	.	GRCh37	15	34656411	34656411	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	38	0	ENST00000314891.6:c.575G>A	p.Gly192Glu	p.G192E	ENST00000314891	NM_153613.2	192	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS32191.1	575	RADIA|VARSCANS	.	TGCCTCCTGAG	NONE	.	.	Superfamily_domains:0039877,SMART_domains:SM00563,Pfam_domain:PF01553,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7	.	.	ENSP00000317300	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000314891	Transcript	.	.	ENSG00000176454	30059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.111)	.	tolerated(0.08)	.	LPCT4_HUMAN	LPCAT4	HGNC	B7ZM32_HUMAN	.	UPI00003D0606	SNV	LPCAT4,missense_variant,p.Gly192Glu,ENST00000314891,;LPCAT4,downstream_gene_variant,,ENST00000562431,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000566581,;LPCAT4,upstream_gene_variant,,ENST00000563240,;LPCAT4,upstream_gene_variant,,ENST00000562404,;LPCAT4,upstream_gene_variant,,ENST00000567507,;LPCAT4,upstream_gene_variant,,ENST00000563748,;LPCAT4,downstream_gene_variant,,ENST00000569804,;	753	38	30	SUCCESS
GALK2	2585	.	GRCh37	15	49531474	49531474	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	37	297	0	ENST00000560031.1:c.414C>T	p.Ile138=	p.I138=	ENST00000560031		138	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS42034.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATCCCACC	NONE	.	.	hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF7,PROSITE_patterns:PS00627,Pfam_domain:PF00288,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00131,PIRSF_domain:PIRSF000530,Superfamily_domains:SSF54211,Prints_domain:PR00473,Prints_domain:PR00959	.	.	ENSP00000453129	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000560031	Transcript	.	.	ENSG00000156958	4119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALK2_HUMAN	GALK2	HGNC	H0YNR7_HUMAN,H0YND3_HUMAN,B7ZAX5_HUMAN	.	UPI000012B06E	SNV	GALK2,synonymous_variant,p.%3D,ENST00000560654,;GALK2,synonymous_variant,p.%3D,ENST00000560031,;GALK2,synonymous_variant,p.%3D,ENST00000543495,;GALK2,synonymous_variant,p.%3D,ENST00000396509,;GALK2,synonymous_variant,p.%3D,ENST00000327171,;GALK2,synonymous_variant,p.%3D,ENST00000544523,;GALK2,synonymous_variant,p.%3D,ENST00000559454,;GALK2,synonymous_variant,p.%3D,ENST00000560138,;GALK2,downstream_gene_variant,,ENST00000558145,;GALK2,non_coding_transcript_exon_variant,,ENST00000561014,;GALK2,3_prime_UTR_variant,,ENST00000559423,;GALK2,3_prime_UTR_variant,,ENST00000559208,;GALK2,3_prime_UTR_variant,,ENST00000559883,;GALK2,3_prime_UTR_variant,,ENST00000560119,;GALK2,3_prime_UTR_variant,,ENST00000558775,;GALK2,3_prime_UTR_variant,,ENST00000559963,;GALK2,downstream_gene_variant,,ENST00000558956,;	721	297	192	SUCCESS
MAP2K1	5604	.	GRCh37	15	66777396	66777396	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	106	0	ENST00000307102.5:c.762A>C	p.Val254=	p.V254=	ENST00000307102	NM_002755.3	254	gtA/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS10216.1	762	MUTECT|MUSE|VARSCANS	.	CTGGTAGAGAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000302486	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000307102	Transcript	1	.	ENSG00000169032	6840	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MP2K1_HUMAN	MAP2K1	HGNC	A4QPA9_HUMAN	.	UPI000013EBC9	SNV	MAP2K1,synonymous_variant,p.%3D,ENST00000307102,;MAP2K1,synonymous_variant,p.%3D,ENST00000566326,;CTD-3185P2.1,downstream_gene_variant,,ENST00000565387,;CTD-3185P2.2,downstream_gene_variant,,ENST00000602360,;	1293	106	60	SUCCESS
PML	5371	.	GRCh37	15	74290431	74290431	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	70	0	ENST00000268058.3:c.216T>G	p.Cys72Trp	p.C72W	ENST00000268058	NM_033238.2	72	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS10255.1	216	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGTCTGCA	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Gene3D:3.30.40.10,PROSITE_patterns:PS00518,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF256,PROSITE_profiles:PS50089	.	.	ENSP00000268058	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000268058	Transcript	1	.	ENSG00000140464	9113	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PML_HUMAN	PML	HGNC	Q9UE85_HUMAN,Q05835_HUMAN	.	UPI000013D78F	SNV	PML,missense_variant,p.Cys72Trp,ENST00000563500,;PML,missense_variant,p.Cys72Trp,ENST00000395135,;PML,missense_variant,p.Cys72Trp,ENST00000569477,;PML,missense_variant,p.Cys72Trp,ENST00000565898,;PML,missense_variant,p.Cys72Trp,ENST00000435786,;PML,missense_variant,p.Cys72Trp,ENST00000436891,;PML,missense_variant,p.Cys72Trp,ENST00000359928,;PML,missense_variant,p.Cys72Trp,ENST00000564428,;PML,missense_variant,p.Cys72Trp,ENST00000567543,;PML,missense_variant,p.Cys72Trp,ENST00000354026,;PML,missense_variant,p.Cys72Trp,ENST00000569965,;PML,missense_variant,p.Cys72Trp,ENST00000268059,;PML,missense_variant,p.Cys72Trp,ENST00000268058,;PML,missense_variant,p.Cys72Trp,ENST00000395132,;STOML1,upstream_gene_variant,,ENST00000561656,;PML,non_coding_transcript_exon_variant,,ENST00000564725,;STOML1,upstream_gene_variant,,ENST00000563229,;	312	70	74	SUCCESS
MYH2	4620	.	GRCh37	17	10432777	10432777	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	15	225	0	ENST00000245503.5:c.3139G>T	p.Glu1047Ter	p.E1047*	ENST00000245503	NM_017534.5	1047	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11156.1	3139	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCTTGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF90257,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	.	.	ENSP00000245503	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,stop_gained,p.Glu1047Ter,ENST00000245503,;MYH2,stop_gained,p.Glu1047Ter,ENST00000397183,;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3524	225	131	SUCCESS
MPRIP	23164	.	GRCh37	17	17075144	17075144	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1597506057	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	81	0	ENST00000341712.4:c.2276G>A	p.Arg759His	p.R759H	ENST00000341712		759	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS42268.1	2276	RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF9	.	.	ENSP00000379156	.	16/23	.	.	.	.	.	.	.	.	COSM308568	16/23	PASS	ENST00000395811	Transcript	.	.	ENSG00000133030	30321	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	MPRIP_HUMAN	MPRIP	HGNC	Q96EE5_HUMAN,Q8N236_HUMAN,Q5ZEZ6_HUMAN,J3KSK7_HUMAN	.	UPI0000200A77	SNV	MPRIP,missense_variant,p.Arg759His,ENST00000395811,;MPRIP,missense_variant,p.Arg1515His,ENST00000313485,;MPRIP,missense_variant,p.Arg825His,ENST00000414263,;MPRIP,missense_variant,p.Arg759His,ENST00000341712,;MPRIP,missense_variant,p.Arg721His,ENST00000444976,;MPRIP,missense_variant,p.Arg38His,ENST00000429184,;MPRIP,missense_variant,p.Arg759His,ENST00000395804,;MPRIP,missense_variant,p.Arg565His,ENST00000584067,;MPRIP,intron_variant,,ENST00000579832,;MPRIP,upstream_gene_variant,,ENST00000578209,;RNU6-767P,downstream_gene_variant,,ENST00000384132,;RP11-45M22.3,intron_variant,,ENST00000584203,;MPRIP,non_coding_transcript_exon_variant,,ENST00000578548,;MPRIP,upstream_gene_variant,,ENST00000581855,;	2365	81	52	SUCCESS
TRPV3	162514	.	GRCh37	17	3417232	3417232	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	58	270	1	ENST00000576742.1:c.2352A>G	p.Glu784=	p.E784=	ENST00000576742	NM_145068.3	784	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS58500.1	2355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAATTCCTC	NONE	.	.	hmmpanther:PTHR10582:SF6,hmmpanther:PTHR10582	.	.	ENSP00000301365	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000301365	Transcript	.	.	ENSG00000167723	18084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV3_HUMAN	TRPV3	HGNC	.	.	UPI0000200627	SNV	TRPV3,synonymous_variant,p.%3D,ENST00000301365,;TRPV3,synonymous_variant,p.%3D,ENST00000576742,;TRPV3,downstream_gene_variant,,ENST00000572519,;SPATA22,upstream_gene_variant,,ENST00000541913,;SPATA22,upstream_gene_variant,,ENST00000570318,;TRPV3,3_prime_UTR_variant,,ENST00000577016,;TRPV3,3_prime_UTR_variant,,ENST00000381913,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;	2487	271	191	SUCCESS
ANKFY1	51479	.	GRCh37	17	4082167	4082167	+	synonymous_variant	Silent	SNP	G	G	A	rs780227998	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	120	0	ENST00000341657.4:c.2583C>T	p.Ser861=	p.S861=	ENST00000341657	NM_016376.3	861	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58502.1	2709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGGACTC	NONE	byFrequency	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	18/25	.	.	.	.	.	.	.	.	rs780227998	18/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,synonymous_variant,p.%3D,ENST00000341657,;ANKFY1,synonymous_variant,p.%3D,ENST00000574367,;ANKFY1,synonymous_variant,p.%3D,ENST00000570535,;CYB5D2,intron_variant,,ENST00000573984,;ANKFY1,downstream_gene_variant,,ENST00000574736,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000572564,;ANKFY1,downstream_gene_variant,,ENST00000571547,;	2826	120	79	SUCCESS
SPPL2B	56928	.	GRCh37	19	2351576	2351576	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs757596429	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	83	0	ENST00000452401.2:n.1576C>T		p.*526*	ENST00000452401				0	.	.	.	.	.	T	.	antisense	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACGGGCA	NONE	byFrequency	998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757596429	.	PASS	ENST00000609490	Transcript	.	.	ENSG00000273116	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	LLfos-48D6.1	Clone_based_vega_gene	.	.	.	SNV	LLfos-48D6.1,downstream_gene_variant,,ENST00000609490,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000590295,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000592845,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000586377,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000452401,;SPPL2B,upstream_gene_variant,,ENST00000610255,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000589515,;	.	83	72	SUCCESS
RYR1	6261	.	GRCh37	19	39010081	39010081	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760809784	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	56	0	ENST00000359596.3:c.10246G>A	p.Val3416Met	p.V3416M	ENST00000359596		3416	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS33011.1	10246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACGTGGAC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	67/106	.	.	.	.	.	.	.	.	rs760809784	67/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Val352Met,ENST00000599547,;RYR1,missense_variant,p.Val3416Met,ENST00000355481,;RYR1,missense_variant,p.Val3416Met,ENST00000360985,;RYR1,missense_variant,p.Val3416Met,ENST00000359596,;RYR1,3_prime_UTR_variant,,ENST00000594335,;RYR1,upstream_gene_variant,,ENST00000600337,;	10246	56	42	SUCCESS
ZNF578	147660	.	GRCh37	19	53014251	53014251	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	12	358	0	ENST00000421239.2:c.617A>C	p.Asn206Thr	p.N206T	ENST00000421239	NM_001099694.1	206	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS54310.1	617	MUTECT|MUSE	.	TCCTAATAACT	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.453)	.	deleterious(0.02)	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Asn206Thr,ENST00000421239,;ZNF578,missense_variant,p.Asn206Thr,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	861	358	208	SUCCESS
TARM1	441864	.	GRCh37	19	54573362	54573362	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	58	0	ENST00000432826.1:c.711G>A	p.Leu237=	p.L237=	ENST00000432826	NM_001135686.1	237	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46173.1	711	RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCAGTCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11738:SF84,hmmpanther:PTHR11738	.	.	ENSP00000439454	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000432826	Transcript	.	.	ENSG00000248385	37250	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TARM1_HUMAN	TARM1	HGNC	.	.	UPI00004FB5DD	SNV	TARM1,synonymous_variant,p.%3D,ENST00000432826,;TARM1,synonymous_variant,p.%3D,ENST00000446034,;	736	58	59	SUCCESS
U2AF2	11338	.	GRCh37	19	56185355	56185355	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	103	0	ENST00000308924.4:c.1349C>T	p.Thr450Met	p.T450M	ENST00000308924		450	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12933.1	1349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACGGGCC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF53,Pfam_domain:PF00076,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01642,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000307863	.	12/12	.	.	.	.	.	.	.	.	COSM308571	12/12	PASS	ENST00000308924	Transcript	.	.	ENSG00000063244	23156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.966)	.	deleterious(0)	1	U2AF2_HUMAN	U2AF2	HGNC	.	.	UPI0000137924	SNV	U2AF2,missense_variant,p.Thr450Met,ENST00000308924,;U2AF2,missense_variant,p.Thr282Met,ENST00000590551,;U2AF2,missense_variant,p.Thr446Met,ENST00000450554,;EPN1,upstream_gene_variant,,ENST00000270460,;EPN1,upstream_gene_variant,,ENST00000085079,;EPN1,upstream_gene_variant,,ENST00000411543,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;CTD-2537I9.13,downstream_gene_variant,,ENST00000592252,;	1389	103	90	SUCCESS
SLC35A3	23443	.	GRCh37	1	100483326	100483326	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	365	63	815	1	ENST00000370155.3:c.842C>T	p.Ser281Leu	p.S281L	ENST00000370155	NM_012243.2	281	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS762.1	842	RADIA|VARSCANS	.	ATTATCAACAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10231:SF36,hmmpanther:PTHR10231,TIGRFAM_domain:TIGR00803,Pfam_domain:PF04142,PIRSF_domain:PIRSF005799	.	.	ENSP00000359174	.	7/8	.	.	.	.	.	.	.	.	COSM308569	7/8	PASS	ENST00000370155	Transcript	.	.	ENSG00000117620	11023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.858)	.	deleterious(0)	1	S35A3_HUMAN	SLC35A3	HGNC	E9PPQ9_HUMAN,C9JW63_HUMAN	.	UPI0000137AF2	SNV	SLC35A3,missense_variant,p.Ser281Leu,ENST00000427993,;SLC35A3,missense_variant,p.Ser323Leu,ENST00000370153,;SLC35A3,missense_variant,p.Ser281Leu,ENST00000370155,;SLC35A3,intron_variant,,ENST00000465289,;SLC35A3,downstream_gene_variant,,ENST00000422078,;SLC35A3,non_coding_transcript_exon_variant,,ENST00000370156,;SLC35A3,missense_variant,p.Ser281Leu,ENST00000533028,;	1234	816	429	SUCCESS
HIST2H3D	0	.	GRCh37	1	149784882	149784882	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782193306	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	70	283	0	ENST00000331491.1:c.355A>G	p.Thr119Ala	p.T119A	ENST00000331491	NM_001123375.2	119	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS41388.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTCACGC	NONE	.	.	hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000333277	.	1/1	.	.	.	.	.	.	.	.	rs782193306,COSM308573	1/1	PASS	ENST00000331491	Transcript	.	.	ENSG00000183598	25311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.025)	.	deleterious_low_confidence(0.01)	0,1	H32_HUMAN	HIST2H3D	HGNC	.	.	UPI0000000586	SNV	HIST2H3D,missense_variant,p.Thr119Ala,ENST00000331491,;HIST2H2BF,upstream_gene_variant,,ENST00000545683,;HIST2H2BF,upstream_gene_variant,,ENST00000369167,;HIST2H2BF,upstream_gene_variant,,ENST00000427880,;RP11-196G18.21,upstream_gene_variant,,ENST00000420462,;HIST2H2BF,upstream_gene_variant,,ENST00000469483,;	355	283	235	SUCCESS
WDR26	80232	.	GRCh37	1	224585919	224585919	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	142	0	ENST00000414423.2:c.1654T>A	p.Leu552Ile	p.L552I	ENST00000414423	NM_001115113.2	552	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS31037.2	1654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATAAATGAA	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22838:SF0,hmmpanther:PTHR22838,PROSITE_profiles:PS50294	.	.	ENSP00000408108	.	12/14	.	.	.	.	.	.	.	.	COSM308580,COSM308581	12/14	PASS	ENST00000414423	Transcript	.	.	ENSG00000162923	21208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.893)	.	deleterious(0.02)	1,1	WDR26_HUMAN	WDR26	HGNC	C9JCS7_HUMAN	.	UPI0000203FB7	SNV	WDR26,missense_variant,p.Leu552Ile,ENST00000414423,;WDR26,missense_variant,p.Leu186Ile,ENST00000480676,;WDR26,missense_variant,p.Leu405Ile,ENST00000295024,;WDR26,3_prime_UTR_variant,,ENST00000366852,;MIR4742,downstream_gene_variant,,ENST00000581069,;WDR26,non_coding_transcript_exon_variant,,ENST00000479727,;WDR26,3_prime_UTR_variant,,ENST00000486652,;	1848	142	85	SUCCESS
GALNT2	2590	.	GRCh37	1	230410235	230410235	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	6	98	0	ENST00000366672.4:c.1485G>A	p.Leu495=	p.L495=	ENST00000366672	NM_004481.3	495	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1582.1	1485	MUTECT|MUSE|VARSCANS	.	GATTTGTGCCT	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675:SF24,hmmpanther:PTHR11675,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000355632	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000366672	Transcript	.	.	ENSG00000143641	4124	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GALT2_HUMAN	GALNT2	HGNC	.	.	UPI0000074053	SNV	GALNT2,synonymous_variant,p.%3D,ENST00000543760,;GALNT2,synonymous_variant,p.%3D,ENST00000366672,;GALNT2,3_prime_UTR_variant,,ENST00000541865,;GALNT2,non_coding_transcript_exon_variant,,ENST00000485438,;	1557	99	75	SUCCESS
DMAP1	55929	.	GRCh37	1	44684030	44684030	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	37	261	0	ENST00000315913.5:c.441C>T	p.Leu147=	p.L147=	ENST00000315913		147	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS509.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTCCACGA	NONE	.	.	hmmpanther:PTHR12855:SF10,hmmpanther:PTHR12855	.	.	ENSP00000361363	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000372289	Transcript	.	.	ENSG00000178028	18291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMAP1_HUMAN	DMAP1	HGNC	Q5TG40_HUMAN,Q5TG38_HUMAN,B4DQG8_HUMAN	.	UPI00001294C6	SNV	DMAP1,synonymous_variant,p.%3D,ENST00000315913,;DMAP1,synonymous_variant,p.%3D,ENST00000437511,;DMAP1,synonymous_variant,p.%3D,ENST00000446292,;DMAP1,synonymous_variant,p.%3D,ENST00000372290,;DMAP1,synonymous_variant,p.%3D,ENST00000440641,;DMAP1,synonymous_variant,p.%3D,ENST00000361745,;DMAP1,synonymous_variant,p.%3D,ENST00000372289,;ERI3,downstream_gene_variant,,ENST00000372259,;ERI3,downstream_gene_variant,,ENST00000372257,;DMAP1,downstream_gene_variant,,ENST00000436069,;ERI3,downstream_gene_variant,,ENST00000537474,;ERI3,downstream_gene_variant,,ENST00000456170,;DMAP1,non_coding_transcript_exon_variant,,ENST00000488433,;DMAP1,non_coding_transcript_exon_variant,,ENST00000471829,;ERI3,downstream_gene_variant,,ENST00000479101,;DMAP1,downstream_gene_variant,,ENST00000475794,;ERI3,downstream_gene_variant,,ENST00000489710,;DMAP1,downstream_gene_variant,,ENST00000487922,;DMAP1,upstream_gene_variant,,ENST00000494092,;DMAP1,upstream_gene_variant,,ENST00000483741,;ERI3,downstream_gene_variant,,ENST00000462341,;DMAP1,downstream_gene_variant,,ENST00000463950,;	704	261	131	SUCCESS
ZMYND8	23613	.	GRCh37	20	45920579	45920579	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	117	0	ENST00000311275.7:c.561A>G	p.Glu187=	p.E187=	ENST00000311275	NM_001281783.1	187	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS13405.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTATTCCGC	NONE	.	.	Superfamily_domains:SSF47370,SMART_domains:SM00297,Pfam_domain:PF00439,Gene3D:1.20.920.10,hmmpanther:PTHR24102:SF13,hmmpanther:PTHR24102,PROSITE_profiles:PS50014	.	.	ENSP00000418210	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000461685	Transcript	.	.	ENSG00000101040	9397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKCB1_HUMAN	ZMYND8	HGNC	Q5TH08_HUMAN,Q5TH07_HUMAN	.	UPI00001BDF63	SNV	ZMYND8,synonymous_variant,p.%3D,ENST00000446994,;ZMYND8,synonymous_variant,p.%3D,ENST00000372023,;ZMYND8,synonymous_variant,p.%3D,ENST00000355972,;ZMYND8,synonymous_variant,p.%3D,ENST00000360911,;ZMYND8,synonymous_variant,p.%3D,ENST00000262975,;ZMYND8,synonymous_variant,p.%3D,ENST00000311275,;ZMYND8,synonymous_variant,p.%3D,ENST00000536340,;ZMYND8,synonymous_variant,p.%3D,ENST00000467200,;ZMYND8,synonymous_variant,p.%3D,ENST00000540497,;ZMYND8,synonymous_variant,p.%3D,ENST00000435836,;ZMYND8,synonymous_variant,p.%3D,ENST00000352431,;ZMYND8,synonymous_variant,p.%3D,ENST00000396281,;ZMYND8,synonymous_variant,p.%3D,ENST00000458360,;ZMYND8,synonymous_variant,p.%3D,ENST00000471951,;ZMYND8,synonymous_variant,p.%3D,ENST00000461685,;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;	621	117	70	SUCCESS
PKNOX1	5316	.	GRCh37	21	44450022	44450022	+	synonymous_variant	Silent	SNP	G	G	A	rs533645525	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	139	0	ENST00000291547.5:c.1122G>A	p.Thr374=	p.T374=	ENST00000291547	NM_004571.3	374	acG/acA	0	.	A:0.0008	.	A:0	.	A	T	protein_coding	YES	CCDS13692.1	1122	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ACCACGCCCGT	NONE	by1000G	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF80	A:0	.	ENSP00000291547	A:0	11/11	.	.	.	.	.	.	.	.	rs533645525	11/11	PASS	ENST00000291547	Transcript	.	A:0.0002	ENSG00000160199	9022	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	PKNX1_HUMAN	PKNOX1	HGNC	Q96I87_HUMAN,E7EPN6_HUMAN	.	UPI000000D8D4	SNV	PKNOX1,synonymous_variant,p.%3D,ENST00000432907,;PKNOX1,synonymous_variant,p.%3D,ENST00000291547,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000557820,;PKNOX1,downstream_gene_variant,,ENST00000607150,;PKNOX1,3_prime_UTR_variant,,ENST00000560448,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000558955,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000607049,;PKNOX1,downstream_gene_variant,,ENST00000474336,;	1333	139	89	SUCCESS
RANBP2	5903	.	GRCh37	2	109380447	109380447	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	68	154	0	ENST00000283195.6:c.3452A>G	p.Asn1151Ser	p.N1151S	ENST00000283195	NM_006267.4	1151	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS2079.1	3452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAACAAGA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	COSM308577,COSM308578	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.017)	.	tolerated(0.39)	1,1	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Asn1151Ser,ENST00000283195,;	3578	154	124	SUCCESS
ABCB11	8647	.	GRCh37	2	169850303	169850303	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750215830	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	64	203	2	ENST00000263817.6:c.701G>T	p.Gly234Val	p.G234V	ENST00000263817	NM_003742.2	234	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46444.1	701	RADIA|SOMATICSNIPER|VARSCANS	.	AAAATCCCAAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000263817	.	8/28	.	.	.	.	.	.	.	.	rs750215830	8/28	PASS	ENST00000263817	Transcript	.	.	ENSG00000073734	42	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABCBB_HUMAN	ABCB11	HGNC	Q9UIL3_HUMAN,Q53S60_HUMAN,B4DYQ0_HUMAN	.	UPI0000163BFA	SNV	ABCB11,missense_variant,p.Gly234Val,ENST00000263817,;	826	205	137	SUCCESS
TTN	7273	.	GRCh37	2	179412302	179412302	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	27	232	0	ENST00000591111.1:c.89128T>C	p.Ser29710Pro	p.S29710P	ENST00000591111		29710	Tcg/Ccg	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS59435.1	94051	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGATTCAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	339/363	.	.	.	.	.	.	.	.	.	339/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser22411Pro,ENST00000359218,;TTN,missense_variant,p.Ser29710Pro,ENST00000591111,;TTN,missense_variant,p.Ser31351Pro,ENST00000589042,;TTN,missense_variant,p.Ser22478Pro,ENST00000342175,;TTN,missense_variant,p.Ser28783Pro,ENST00000342992,;TTN,missense_variant,p.Ser22286Pro,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;	94276	232	156	SUCCESS
TTN	7273	.	GRCh37	2	179532037	179532037	+	intron_variant	Intron	SNP	G	G	A	rs1179230741	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	37	257	1	ENST00000591111.1:c.34264+2908C>T		p.*11422*	ENST00000591111		11908		0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS59435.1	35723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGTATCA	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	162/363	.	.	.	.	.	.	.	.	.	162/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Thr11908Ile,ENST00000589042,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN,upstream_gene_variant,,ENST00000425332,;TTN,downstream_gene_variant,,ENST00000448510,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	35948	258	146	SUCCESS
IDH1	3417	.	GRCh37	2	209113113	209113113	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913499	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	79	254	0	ENST00000345146.2:c.394C>T	p.Arg132Cys	p.R132C	ENST00000345146	NM_005896.2	132	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2381.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ATGACGACCTA	SITE|p.R132C|c.394C>T|587,CODON|p.R132H|c.395_396GT>AC|4,CODON|p.R132S|c.394_395CG>TC|6,CODON|p.R132H|c.395G>A|3975,CODON|p.R132L|c.395G>T|82,BUFFER|p.R132S|c.394C>A|145,BUFFER|p.R132G|c.394C>G|164	byCluster	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	4/10	.	.	.	.	.	.	.	.	rs121913499,COSM28749,COSM28747,COSM28748	4/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	possibly_damaging(0.907)	.	deleterious_low_confidence(0.03)	0,1,1,1	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Arg132Cys,ENST00000345146,;IDH1,missense_variant,p.Arg132Cys,ENST00000415913,;IDH1,missense_variant,p.Arg132Cys,ENST00000446179,;IDH1,missense_variant,p.Arg132Cys,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	776	254	167	SUCCESS
ACKR3	57007	.	GRCh37	2	237489915	237489915	+	synonymous_variant	Silent	SNP	C	C	T	rs757104529	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	116	0	ENST00000272928.3:c.807C>T	p.His269=	p.H269=	ENST00000272928	NM_020311.2	269	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS2516.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCACGTGGC	NONE	byFrequency	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF34,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000272928	.	2/2	.	.	.	.	.	.	.	.	rs757104529	2/2	PASS	ENST00000272928	Transcript	.	.	ENSG00000144476	23692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACKR3_HUMAN	ACKR3	HGNC	.	.	UPI000013D989	SNV	ACKR3,synonymous_variant,p.%3D,ENST00000272928,;ACKR3,downstream_gene_variant,,ENST00000447924,;	1117	116	92	SUCCESS
HK2	3099	.	GRCh37	2	75104368	75104368	+	synonymous_variant	Silent	SNP	G	G	A	rs565854734	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	116	0	ENST00000290573.2:c.951G>A	p.Glu317=	p.E317=	ENST00000290573	NM_000189.4	317	gaG/gaA	0	.	T:0	.	T:0	.	A	E	protein_coding	YES	CCDS1956.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGCTGCT	NONE	by1000G	.	hmmpanther:PTHR19443:SF4,hmmpanther:PTHR19443,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067	T:0	.	ENSP00000290573	T:0	8/18	.	.	.	.	.	.	.	.	rs565854734	8/18	PASS	ENST00000290573	Transcript	.	T:0.0002	ENSG00000159399	4923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,synonymous_variant,p.%3D,ENST00000409174,;HK2,synonymous_variant,p.%3D,ENST00000290573,;	1551	116	91	SUCCESS
RAF1	5894	.	GRCh37	3	12645687	12645687	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs397516828	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	150	0	ENST00000251849.4:c.782C>G	p.Pro261Arg	p.P261R	ENST00000251849	NM_002880.3	261	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS2612.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	CATTAGGTGTG	NONE	byCluster	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF42	.	.	ENSP00000251849	.	7/17	.	.	.	.	.	.	.	.	rs397516828,CM073296,COSM308576,COSM3944801	7/17	PASS	ENST00000251849	Transcript	.	.	ENSG00000132155	9829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	17603483	probably_damaging(0.996)	.	deleterious(0)	0,0,1,1	RAF1_HUMAN	RAF1	HGNC	L7RRS6_HUMAN	.	UPI0000049CFC	SNV	RAF1,missense_variant,p.Pro140Arg,ENST00000432427,;RAF1,missense_variant,p.Pro261Arg,ENST00000442415,;RAF1,missense_variant,p.Pro261Arg,ENST00000251849,;RAF1,missense_variant,p.Pro46Arg,ENST00000534997,;RAF1,missense_variant,p.Pro180Arg,ENST00000542177,;RAF1,3_prime_UTR_variant,,ENST00000423275,;RAF1,3_prime_UTR_variant,,ENST00000416093,;RAF1,non_coding_transcript_exon_variant,,ENST00000465826,;RAF1,non_coding_transcript_exon_variant,,ENST00000491290,;RAF1,downstream_gene_variant,,ENST00000492690,;RAF1,upstream_gene_variant,,ENST00000460610,;	1222	150	109	SUCCESS
ECE2	9718	.	GRCh37	3	184001717	184001717	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370460271	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	28	141	0	ENST00000402825.3:c.1315G>A	p.Asp439Asn	p.D439N	ENST00000402825	NM_014693.3	439	Gac/Aac	0	A:0.0002	.	.	.	.	A	D/N	protein_coding	YES	CCDS3256.2	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGACGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Pfam_domain:PF05649,Superfamily_domains:SSF55486	.	A:0	ENSP00000384223	.	8/19	.	.	.	.	.	.	.	.	rs370460271	8/19	PASS	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	tolerated(0.1)	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	SNV	ECE2,missense_variant,p.Asp313Asn,ENST00000430587,;ECE2,missense_variant,p.Asp292Asn,ENST00000359140,;ECE2,missense_variant,p.Asp367Asn,ENST00000357474,;ECE2,missense_variant,p.Asp321Asn,ENST00000404464,;ECE2,missense_variant,p.Asp439Asn,ENST00000402825,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,non_coding_transcript_exon_variant,,ENST00000488401,;ECE2,non_coding_transcript_exon_variant,,ENST00000490579,;	1315	141	140	SUCCESS
BAP1	8314	.	GRCh37	3	52440340	52440348	+	inframe_deletion	In_Frame_Del	DEL	TGCGGTCGG	TGCGGTCGG	-	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	TGCGGTCGG	TGCGGTCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	4	17	31	0	ENST00000460680.1:c.704_712del	p.Pro235_Arg237del	p.P235_R237del	ENST00000460680	NM_004656.3	235	cCCGACCGCAgg/cgg	0	.	.	.	.	.	-	PDRR/R	protein_coding	YES	CCDS2853.1	704-712	VARSCANI*|PINDEL	.	TGATCCTGCGGTCGGGCACC	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,splice_acceptor_variant,,ENST00000296288,;BAP1,inframe_deletion,p.Pro235_Arg237del,ENST00000460680,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,downstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;	1176-1184	31	21	SUCCESS
ALB	213	.	GRCh37	4	74270015	74270015	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs779422608	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	80	384	0	ENST00000295897.4:c.-30C>T		p.*10*	ENST00000295897	NM_000477.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3555.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TTTCTCTTCTG	NONE	.	.	.	.	.	ENSP00000295897	.	1/15	.	.	.	.	.	.	.	.	rs779422608	1/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,5_prime_UTR_variant,,ENST00000415165,;ALB,5_prime_UTR_variant,,ENST00000295897,;ALB,intron_variant,,ENST00000441319,;ALB,upstream_gene_variant,,ENST00000509063,;ALB,upstream_gene_variant,,ENST00000503124,;ALB,upstream_gene_variant,,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000476441,;	60	384	190	SUCCESS
RAB24	53917	.	GRCh37	5	176728924	176728924	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	66	0	ENST00000303251.6:c.547+2T>C		p.X183_splice	ENST00000303251	NM_001031677.2	183		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34300.1	.	RADIA|MUTECT|VARSCANS	.	CACACACCTGT	NONE	.	.	.	.	.	ENSP00000304376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303251	Transcript	.	.	ENSG00000169228	9765	.	.	HIGH	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB24_HUMAN	RAB24	HGNC	D6RFW3_HUMAN	.	UPI000013315F	SNV	RAB24,splice_donor_variant,,ENST00000303251,;RAB24,splice_donor_variant,,ENST00000303270,;RAB24,splice_donor_variant,,ENST00000393611,;NSD1,downstream_gene_variant,,ENST00000354179,;PRELID1,upstream_gene_variant,,ENST00000303204,;MXD3,downstream_gene_variant,,ENST00000423571,;NSD1,downstream_gene_variant,,ENST00000361032,;PRELID1,upstream_gene_variant,,ENST00000503853,;RAB24,downstream_gene_variant,,ENST00000504395,;MXD3,downstream_gene_variant,,ENST00000427908,;PRELID1,upstream_gene_variant,,ENST00000503216,;NSD1,downstream_gene_variant,,ENST00000439151,;PRELID1,upstream_gene_variant,,ENST00000502670,;RAB24,splice_donor_variant,,ENST00000478234,;RAB24,splice_donor_variant,,ENST00000471466,;MXD3,splice_donor_variant,,ENST00000503473,;RAB24,splice_donor_variant,,ENST00000495458,;RAB24,downstream_gene_variant,,ENST00000393610,;PRELID1,upstream_gene_variant,,ENST00000510797,;MXD3,downstream_gene_variant,,ENST00000509339,;PRELID1,upstream_gene_variant,,ENST00000504594,;PRELID1,upstream_gene_variant,,ENST00000511309,;RAB24,downstream_gene_variant,,ENST00000512758,;PRELID1,upstream_gene_variant,,ENST00000510701,;	.	67	53	SUCCESS
TNPO1	3842	.	GRCh37	5	72144303	72144303	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	30	0	ENST00000337273.5:c.108del	p.Ile37SerfsTer22	p.I37Sfs*22	ENST00000337273	NM_002270.3	36	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS43329.1	107	VARSCANI*|PINDEL	.	ACACCACCATCC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	deletion	TNPO1,frameshift_variant,p.Ile29SerfsTer22,ENST00000506351,;TNPO1,frameshift_variant,p.Ile37SerfsTer22,ENST00000454282,;TNPO1,frameshift_variant,p.Ile37SerfsTer22,ENST00000523768,;TNPO1,frameshift_variant,p.Ile29SerfsTer22,ENST00000447967,;TNPO1,frameshift_variant,p.Ile37SerfsTer22,ENST00000337273,;TNPO1,non_coding_transcript_exon_variant,,ENST00000513944,;TNPO1,non_coding_transcript_exon_variant,,ENST00000506528,;TNPO1,non_coding_transcript_exon_variant,,ENST00000511754,;TNPO1,non_coding_transcript_exon_variant,,ENST00000509030,;TNPO1,non_coding_transcript_exon_variant,,ENST00000518279,;TNPO1,non_coding_transcript_exon_variant,,ENST00000515483,;TNPO1,frameshift_variant,p.Ile37SerfsTer22,ENST00000520850,;	533	30	60	SUCCESS
ABCA13	154664	.	GRCh37	7	48315045	48315045	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762614194	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	99	259	0	ENST00000435803.1:c.5782G>T	p.Val1928Phe	p.V1928F	ENST00000435803	NM_152701.3	1928	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS47584.1	5782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTGTCCCA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	rs762614194,COSM3698439,COSM3698438	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.107)	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Val1928Phe,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	5806	259	208	SUCCESS
TPST1	8460	.	GRCh37	7	65705902	65705902	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	120	0	ENST00000304842.5:c.490C>G	p.Leu164Val	p.L164V	ENST00000304842	NM_003596.3	164	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS5533.1	490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCTGAAA	NONE	.	.	hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF4,Pfam_domain:PF13469,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000302413	.	2/6	.	.	.	.	.	.	.	.	COSM308579	2/6	PASS	ENST00000304842	Transcript	.	.	ENSG00000169902	12020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.963)	.	deleterious(0)	1	TPST1_HUMAN	TPST1	HGNC	Q75ML6_HUMAN,Q75M96_HUMAN,C9K0F3_HUMAN,C9J3I4_HUMAN	.	UPI0000000CD1	SNV	TPST1,missense_variant,p.Leu164Val,ENST00000304842,;TPST1,downstream_gene_variant,,ENST00000442120,;TPST1,downstream_gene_variant,,ENST00000451388,;TPST1,intron_variant,,ENST00000480281,;	915	120	79	SUCCESS
STEAP4	79689	.	GRCh37	7	87912274	87912274	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs370475892	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	183	0	ENST00000380079.4:c.666C>G	p.Asp222Glu	p.D222E	ENST00000380079	NM_024636.3	222	gaC/gaG	0	A:0.0003	.	.	.	.	C	D/E	protein_coding	YES	CCDS43611.1	666	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ATTACGTCTCT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5	.	A:0	ENSP00000369419	.	3/5	.	.	.	.	.	.	.	.	rs370475892,COSM1452637	3/5	PASS	ENST00000380079	Transcript	.	.	ENSG00000127954	21923	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.012)	.	tolerated(0.19)	0,1	STEA4_HUMAN	STEAP4	HGNC	.	.	UPI000003C39A	SNV	STEAP4,missense_variant,p.Asp222Glu,ENST00000380079,;STEAP4,missense_variant,p.Asp222Glu,ENST00000414498,;STEAP4,intron_variant,,ENST00000301959,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000434733,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000600908,;	768	183	100	SUCCESS
SLC2A6	11182	.	GRCh37	9	136340108	136340108	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	31	0	ENST00000371899.4:c.902T>C	p.Ile301Thr	p.I301T	ENST00000371899	NM_017585.3	301	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6975.1	902	RADIA|VARSCANS	.	CGAAGATGGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000360966	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000371899	Transcript	.	.	ENSG00000160326	11011	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GTR6_HUMAN	SLC2A6	HGNC	.	.	UPI0000001BE8	SNV	SLC2A6,missense_variant,p.Ile301Thr,ENST00000371899,;SLC2A6,missense_variant,p.Ile301Thr,ENST00000371897,;SLC2A6,downstream_gene_variant,,ENST00000414172,;SLC2A6,downstream_gene_variant,,ENST00000432868,;CACFD1,downstream_gene_variant,,ENST00000316948,;CACFD1,downstream_gene_variant,,ENST00000291722,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;	980	31	28	SUCCESS
HTATSF1	27336	.	GRCh37	X	135593729	135593729	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	219	0	ENST00000218364.4:c.1825A>C	p.Lys609Gln	p.K609Q	ENST00000218364	NM_014500.4	609	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS14657.1	1825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAAAAGTG	NONE	.	.	.	.	.	ENSP00000442699	.	10/10	.	.	.	.	.	.	.	.	COSM308574	10/10	PASS	ENST00000535601	Transcript	.	.	ENSG00000102241	5276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious_low_confidence(0)	1	HTSF1_HUMAN	HTATSF1	HGNC	Q5H919_HUMAN,Q5H918_HUMAN	.	UPI000006D876	SNV	HTATSF1,missense_variant,p.Lys609Gln,ENST00000218364,;HTATSF1,missense_variant,p.Lys609Gln,ENST00000535601,;	2247	219	118	SUCCESS
DUSP9	1852	.	GRCh37	X	152914788	152914788	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782644901	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	82	0	ENST00000342782.3:c.475G>A	p.Val159Met	p.V159M	ENST00000342782		159	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS14724.1	475	MUTECT|MUSE	.	TGCCCGTGGTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF44,hmmpanther:PTHR10159,PIRSF_domain:PIRSF000939	.	.	ENSP00000345853	.	3/4	.	.	.	.	.	.	.	.	rs782644901,COSM1466558	3/4	PASS	ENST00000342782	Transcript	.	.	ENSG00000130829	3076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.983)	.	tolerated(0.06)	0,1	DUS9_HUMAN	DUSP9	HGNC	P78512_HUMAN	.	UPI0000049C1B	SNV	DUSP9,missense_variant,p.Val159Met,ENST00000370167,;DUSP9,missense_variant,p.Val159Met,ENST00000342782,;DUSP9,downstream_gene_variant,,ENST00000477033,;	740	82	67	SUCCESS
PHKA2	5256	.	GRCh37	X	18919622	18919622	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	92	287	0	ENST00000379942.4:c.3008T>A	p.Leu1003Gln	p.L1003Q	ENST00000379942	NM_000292.2	1003	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14190.1	3008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCAGTCTG	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5	.	.	ENSP00000369274	.	27/33	.	.	.	.	.	.	.	.	COSM308575	27/33	PASS	ENST00000379942	Transcript	.	.	ENSG00000044446	8926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	1	KPB2_HUMAN	PHKA2	HGNC	.	.	UPI000012DF4B	SNV	PHKA2,missense_variant,p.Leu1003Gln,ENST00000379942,;PHKA2,non_coding_transcript_exon_variant,,ENST00000473739,;PHKA2,non_coding_transcript_exon_variant,,ENST00000469645,;PHKA2,non_coding_transcript_exon_variant,,ENST00000486231,;PHKA2,upstream_gene_variant,,ENST00000469485,;PHKA2,upstream_gene_variant,,ENST00000481718,;	3674	288	196	SUCCESS
DMD	1756	.	GRCh37	X	32486707	32486707	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	456	85	734	1	ENST00000357033.4:c.3070G>T	p.Glu1024Ter	p.E1024*	ENST00000357033	NM_004007.2	1024	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14233.1	3070	RADIA|MUTECT|MUSE	.	AATTTCTTCAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	23/79	.	.	.	.	.	.	.	.	COSM1714831,COSM1714832,COSM1714833	23/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,stop_gained,p.Glu1024Ter,ENST00000357033,;DMD,stop_gained,p.Glu1020Ter,ENST00000378677,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	3277	736	541	SUCCESS
BMP15	9210	.	GRCh37	X	50653812	50653812	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	40	239	0	ENST00000252677.3:c.29T>G	p.Leu10Arg	p.L10R	ENST00000252677	NM_005448.2	10	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS14334.1	29	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTTTTTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22	.	.	ENSP00000252677	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000252677	Transcript	.	.	ENSG00000130385	1068	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.829)	.	deleterious(0)	.	BMP15_HUMAN	BMP15	HGNC	.	.	UPI000013CD7C	SNV	BMP15,missense_variant,p.Leu10Arg,ENST00000252677,;H3F3AP5,downstream_gene_variant,,ENST00000414444,;H3F3AP5,downstream_gene_variant,,ENST00000475267,;	29	239	207	SUCCESS
CYLC1	1538	.	GRCh37	X	83128315	83128316	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	218	81	403	0	ENST00000329312.4:c.600_601del	p.Lys201ArgfsTer11	p.K201Rfs*11	ENST00000329312	NM_021118.2	200	aAG/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS35341.1	599-600	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGATAAGAAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	deletion	CYLC1,frameshift_variant,p.Lys201ArgfsTer11,ENST00000329312,;	636-637	403	299	SUCCESS
MCM10	55388	.	GRCh37	10	13212934	13212934	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs571506868	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	119	153	0	ENST00000484800.2:c.20A>G	p.Asn7Ser	p.N7S	ENST00000484800		7	aAt/aGt	0	.	G:0	.	G:0	.	G	N/S	protein_coding	YES	CCDS7096.1	20	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAATCTGT	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13454	G:0	.	ENSP00000418268	G:0.001	3/20	.	.	.	.	.	.	.	.	rs571506868	3/20	PASS	ENST00000484800	Transcript	.	G:0.0002	ENSG00000065328	18043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	G:0	deleterious_low_confidence(0.01)	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,missense_variant,p.Asn7Ser,ENST00000484800,;MCM10,missense_variant,p.Asn7Ser,ENST00000378714,;MCM10,missense_variant,p.Asn7Ser,ENST00000378694,;MCM10,5_prime_UTR_variant,,ENST00000479669,;	123	153	230	SUCCESS
KNDC1	85442	.	GRCh37	10	135025036	135025036	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs151235501	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	66	0	ENST00000304613.3:c.4019G>T	p.Gly1340Val	p.G1340V	ENST00000304613		1340	gGg/gTg	0	A:0	.	.	.	.	T	G/V	protein_coding	YES	CCDS7674.1	4019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGGGCTGC	NONE	byCluster	.	Superfamily_domains:0041591,SMART_domains:SM00229,Gene3D:2ii0A01,Pfam_domain:PF00618,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS50212	.	A:0.0001	ENSP00000304437	.	22/30	.	.	.	.	.	.	.	.	rs151235501	22/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.471)	.	deleterious(0)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Gly1340Val,ENST00000304613,;KNDC1,missense_variant,p.Gly1342Val,ENST00000368572,;KNDC1,downstream_gene_variant,,ENST00000368571,;	4040	66	59	SUCCESS
COMMD3	23412	.	GRCh37	10	22606865	22606866	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	199	43	193	0	ENST00000376836.3:c.193dup	p.Ala65GlyfsTer15	p.A65Gfs*15	ENST00000376836	NM_012071.3	64	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS7137.1	192-193	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGCAGCAGC	NONE	.	.	hmmpanther:PTHR31159:SF1,hmmpanther:PTHR31159,Pfam_domain:PF07258	.	.	ENSP00000366032	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376836	Transcript	.	.	ENSG00000148444	23332	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COMD3_HUMAN	COMMD3	HGNC	.	.	UPI000006F319	insertion	COMMD3,frameshift_variant,p.Ala66GlyfsTer15,ENST00000456711,;COMMD3,frameshift_variant,p.Ala65GlyfsTer15,ENST00000376836,;COMMD3-BMI1,frameshift_variant,p.Ala65GlyfsTer15,ENST00000602390,;COMMD3,frameshift_variant,p.Ala65GlyfsTer15,ENST00000444869,;COMMD3-BMI1,frameshift_variant,p.Ala65GlyfsTer15,ENST00000475460,;COMMD3-BMI1,frameshift_variant,p.Ala61GlyfsTer15,ENST00000489125,;COMMD3,intron_variant,,ENST00000448361,;BMI1,upstream_gene_variant,,ENST00000442508,;COMMD3,upstream_gene_variant,,ENST00000471350,;BMI1,upstream_gene_variant,,ENST00000376663,;COMMD3,non_coding_transcript_exon_variant,,ENST00000483684,;COMMD3-BMI1,non_coding_transcript_exon_variant,,ENST00000463409,;COMMD3,non_coding_transcript_exon_variant,,ENST00000472673,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468469,;COMMD3,3_prime_UTR_variant,,ENST00000472610,;COMMD3,non_coding_transcript_exon_variant,,ENST00000470045,;COMMD3,non_coding_transcript_exon_variant,,ENST00000463688,;COMMD3,non_coding_transcript_exon_variant,,ENST00000496071,;COMMD3,non_coding_transcript_exon_variant,,ENST00000479958,;COMMD3,non_coding_transcript_exon_variant,,ENST00000602574,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468179,;COMMD3-BMI1,intron_variant,,ENST00000417470,;BMI1,upstream_gene_variant,,ENST00000602523,;BMI1,upstream_gene_variant,,ENST00000456675,;COMMD3-BMI1,upstream_gene_variant,,ENST00000602395,;	636-637	193	242	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37505198	37505198	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	467	50	450	0	ENST00000361713.1:c.2791G>C	p.Gly931Arg	p.G931R	ENST00000361713	NM_052997.2	931	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS7193.1	2791	RADIA|MUTECT|MUSE|VARSCANS	.	GTACAGGAAAA	NONE	.	.	.	.	.	ENSP00000354432	.	32/36	.	.	.	.	.	.	.	.	COSM917972	32/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.198)	.	tolerated(0.43)	1	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,missense_variant,p.Gly1050Arg,ENST00000374660,;ANKRD30A,missense_variant,p.Gly931Arg,ENST00000361713,;ANKRD30A,missense_variant,p.Gly931Arg,ENST00000602533,;	2890	450	518	SUCCESS
SFMBT2	57713	.	GRCh37	10	7285628	7285628	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	85	0	ENST00000361972.4:c.1012C>T	p.Leu338=	p.L338=	ENST00000361972	NM_001018039.1	338	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31138.1	1012	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGGTCAT	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000355109	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,synonymous_variant,p.%3D,ENST00000361972,;SFMBT2,synonymous_variant,p.%3D,ENST00000397167,;	1103	85	89	SUCCESS
CDHR1	92211	.	GRCh37	10	85955343	85955343	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs779048474	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	86	0	ENST00000372117.3:c.149T>C	p.Val50Ala	p.V50A	ENST00000372117	NM_033100.3	50	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7372.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTAGGTG	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	2/17	.	.	.	.	.	.	.	.	rs779048474	2/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	deleterious(0.01)	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,missense_variant,p.Val50Ala,ENST00000372117,;CDHR1,missense_variant,p.Val50Ala,ENST00000332904,;	252	86	59	SUCCESS
ADM	133	.	GRCh37	11	10327908	10327908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	33	0	ENST00000278175.5:c.278A>G	p.Lys93Arg	p.K93R	ENST00000278175		93	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7801.1	278	RADIA|VARSCANS	.	AGTCAAGCGCT	NONE	.	.	hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF3,Pfam_domain:PF00214,Prints_domain:PR00801	.	.	ENSP00000436607	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000528655	Transcript	.	.	ENSG00000148926	259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.5)	.	deleterious(0.04)	.	ADML_HUMAN	ADM	HGNC	E9PL83_HUMAN	.	UPI00001255F0	SNV	ADM,missense_variant,p.Lys46Arg,ENST00000534464,;ADM,missense_variant,p.Lys25Arg,ENST00000530439,;ADM,missense_variant,p.Lys93Arg,ENST00000278175,;ADM,missense_variant,p.Lys93Arg,ENST00000525063,;ADM,missense_variant,p.Lys93Arg,ENST00000528655,;ADM,synonymous_variant,p.%3D,ENST00000526492,;ADM,downstream_gene_variant,,ENST00000524948,;ADM,downstream_gene_variant,,ENST00000528544,;RP11-351I24.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;	895	33	30	SUCCESS
ARFGAP2	84364	.	GRCh37	11	47195386	47195387	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	25	0	ENST00000524782.1:c.485dup	p.Ala163CysfsTer8	p.A163Cfs*8	ENST00000524782	NM_032389.4	162	cct/ccCt	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS7926.1	485-486	INDELOCATOR*|PINDEL	.	CAGGCAGGGGG	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF194	.	.	ENSP00000434442	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000524782	Transcript	.	.	ENSG00000149182	13504	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARFG2_HUMAN	ARFGAP2	HGNC	B7Z9M7_HUMAN	.	UPI000006F4C6	insertion	ARFGAP2,frameshift_variant,p.Ala163CysfsTer8,ENST00000524782,;ARFGAP2,frameshift_variant,p.Ala163CysfsTer8,ENST00000525314,;ARFGAP2,frameshift_variant,p.Ala156CysfsTer8,ENST00000530596,;ARFGAP2,frameshift_variant,p.Ala56CysfsTer8,ENST00000419701,;ARFGAP2,frameshift_variant,p.Ala177CysfsTer8,ENST00000525398,;ARFGAP2,frameshift_variant,p.Ala188CysfsTer8,ENST00000528444,;ARFGAP2,intron_variant,,ENST00000527927,;ARFGAP2,intron_variant,,ENST00000319543,;ARFGAP2,intron_variant,,ENST00000526342,;ARFGAP2,intron_variant,,ENST00000426335,;PACSIN3,downstream_gene_variant,,ENST00000298838,;ARFGAP2,upstream_gene_variant,,ENST00000527776,;PACSIN3,downstream_gene_variant,,ENST00000539589,;PACSIN3,downstream_gene_variant,,ENST00000533686,;PACSIN3,downstream_gene_variant,,ENST00000528462,;RP11-390K5.6,upstream_gene_variant,,ENST00000524412,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000395449,;ARFGAP2,intron_variant,,ENST00000531750,;ARFGAP2,intron_variant,,ENST00000529599,;ARFGAP2,downstream_gene_variant,,ENST00000533939,;ARFGAP2,3_prime_UTR_variant,,ENST00000529439,;ARFGAP2,3_prime_UTR_variant,,ENST00000528041,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000527097,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000524727,;ARFGAP2,intron_variant,,ENST00000529455,;ARFGAP2,intron_variant,,ENST00000532478,;ARFGAP2,intron_variant,,ENST00000532438,;ARFGAP2,intron_variant,,ENST00000533243,;ARFGAP2,upstream_gene_variant,,ENST00000526948,;ARFGAP2,downstream_gene_variant,,ENST00000528072,;ARFGAP2,downstream_gene_variant,,ENST00000528708,;ARFGAP2,downstream_gene_variant,,ENST00000530794,;PACSIN3,downstream_gene_variant,,ENST00000532457,;ARFGAP2,downstream_gene_variant,,ENST00000524586,;ARFGAP2,downstream_gene_variant,,ENST00000526185,;	714-715	25	24	SUCCESS
OR52E8	390079	.	GRCh37	11	5878726	5878726	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	214	1	ENST00000537935.1:c.207G>T	p.Leu69=	p.L69=	ENST00000537935	NM_001005168.1	69	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31400.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCAGGAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF108,hmmpanther:PTHR26450,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000444054	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000537935	Transcript	.	.	ENSG00000183269	15217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O52E8_HUMAN	OR52E8	HGNC	.	.	UPI000004B211	SNV	OR52E8,synonymous_variant,p.%3D,ENST00000537935,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	239	215	100	SUCCESS
ACACB	32	.	GRCh37	12	109637260	109637260	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	79	0	ENST00000338432.7:c.2681C>T	p.Pro894Leu	p.P894L	ENST00000338432		894	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS31898.1	2681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATCCTACAG	NONE	.	.	hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Gene3D:2.40.50.100,Superfamily_domains:SSF51230	.	.	ENSP00000341044	.	18/53	.	.	.	.	.	.	.	.	.	18/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious(0.01)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Pro894Leu,ENST00000377854,;ACACB,missense_variant,p.Pro894Leu,ENST00000377848,;ACACB,missense_variant,p.Pro894Leu,ENST00000338432,;	2800	79	71	SUCCESS
HPD	3242	.	GRCh37	12	122284995	122284995	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1276998235	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	111	0	ENST00000289004.4:c.722A>G	p.Asn241Ser	p.N241S	ENST00000289004	NM_002150.2	241	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9224.1	722	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCATTGATG	NONE	.	.	hmmpanther:PTHR11959:SF4,hmmpanther:PTHR11959,TIGRFAM_domain:TIGR01263,Pfam_domain:PF00903,Gene3D:3.10.180.10,PIRSF_domain:PIRSF009283,Superfamily_domains:SSF54593	.	.	ENSP00000289004	.	10/14	.	.	.	.	.	.	.	.	CM078369	10/14	PASS	ENST00000289004	Transcript	.	.	ENSG00000158104	5147	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.964)	.	deleterious(0)	.	.	HPD	HGNC	.	.	UPI0000366920	SNV	HPD,missense_variant,p.Asn241Ser,ENST00000289004,;HPD,missense_variant,p.Asn202Ser,ENST00000543163,;HPD,non_coding_transcript_exon_variant,,ENST00000543869,;HPD,downstream_gene_variant,,ENST00000542159,;	758	111	90	SUCCESS
FZD10	11211	.	GRCh37	12	130648989	130648989	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	66	0	ENST00000229030.4:c.1502T>C	p.Val501Ala	p.V501A	ENST00000229030		501	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS9267.1	1502	RADIA|MUTECT|VARSCANS	.	CGCCGTGGAGA	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.492)	.	deleterious(0.03)	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,missense_variant,p.Val501Ala,ENST00000229030,;FZD10,3_prime_UTR_variant,,ENST00000539839,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	1986	66	44	SUCCESS
WBP11	51729	.	GRCh37	12	14947913	14947913	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	33	243	0	ENST00000261167.2:c.513A>G	p.Ser171=	p.S171=	ENST00000261167	NM_016312.2	171	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS8666.1	513	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCTGAGGT	NONE	.	.	hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361	.	.	ENSP00000261167	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000261167	Transcript	.	.	ENSG00000084463	16461	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WBP11_HUMAN	WBP11	HGNC	F5GXS9_HUMAN,B4DMD3_HUMAN	.	UPI0000035FC2	SNV	WBP11,synonymous_variant,p.%3D,ENST00000261167,;WBP11,downstream_gene_variant,,ENST00000535328,;WBP11,intron_variant,,ENST00000535638,;WBP11,downstream_gene_variant,,ENST00000544764,;	747	243	141	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48135289	48135289	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	32	131	0	ENST00000389212.3:c.1922T>C	p.Leu641Pro	p.L641P	ENST00000389212		641	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41775.1	1922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCAGCTCA	NONE	.	.	hmmpanther:PTHR23113:SF24,hmmpanther:PTHR23113,Superfamily_domains:SSF54236	.	.	ENSP00000395708	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,missense_variant,p.Leu550Pro,ENST00000548919,;RAPGEF3,missense_variant,p.Leu641Pro,ENST00000389212,;RAPGEF3,missense_variant,p.Leu599Pro,ENST00000171000,;RAPGEF3,missense_variant,p.Leu599Pro,ENST00000549151,;RAPGEF3,missense_variant,p.Leu641Pro,ENST00000449771,;RAPGEF3,missense_variant,p.Leu599Pro,ENST00000405493,;RAPGEF3,downstream_gene_variant,,ENST00000395358,;RP1-197B17.3,non_coding_transcript_exon_variant,,ENST00000547799,;RAPGEF3,missense_variant,p.Leu33Pro,ENST00000548434,;RAPGEF3,splice_region_variant,,ENST00000479866,;RAPGEF3,splice_region_variant,,ENST00000473777,;RAPGEF3,splice_region_variant,,ENST00000395360,;RAPGEF3,splice_region_variant,,ENST00000547856,;RAPGEF3,splice_region_variant,,ENST00000488250,;RAPGEF3,splice_region_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000490387,;RAPGEF3,upstream_gene_variant,,ENST00000476259,;	2011	131	131	SUCCESS
KCNA5	3741	.	GRCh37	12	5154891	5154891	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750495839	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	103	0	ENST00000252321.3:c.1578A>T	p.Glu526Asp	p.E526D	ENST00000252321	NM_002234.3	526	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS8536.1	1578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAAACGGA	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	rs750495839	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Glu526Asp,ENST00000252321,;	1807	103	58	SUCCESS
OTOGL	283310	.	GRCh37	12	80732951	80732951	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	13	175	0	ENST00000547103.1:c.4894G>A	p.Gly1632Arg	p.G1632R	ENST00000547103		1632	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	.	4930	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGGACTA	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000400895	.	42/58	.	.	.	.	.	.	.	.	.	42/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.664)	.	tolerated(0.07)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Gly1644Arg,ENST00000458043,;OTOGL,missense_variant,p.Gly87Arg,ENST00000298820,;OTOGL,missense_variant,p.Gly1632Arg,ENST00000547103,;RN7SKP261,downstream_gene_variant,,ENST00000410948,;	4936	175	94	SUCCESS
GRK1	6011	.	GRCh37	13	114322366	114322366	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	38	0	ENST00000335678.6:c.665A>G	p.Asn222Ser	p.N222S	ENST00000335678	NM_002929.2	222	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	.	665	MUTECT|MUSE	.	GCTGAACAAGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF11,hmmpanther:PTHR24355,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000334876	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000335678	Transcript	.	.	ENSG00000185974	10013	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.416)	.	deleterious(0.04)	.	RK_HUMAN	GRK1	HGNC	Q71VB6_HUMAN	.	UPI0000133B08	SNV	GRK1,missense_variant,p.Asn222Ser,ENST00000335678,;	897	38	21	SUCCESS
CENPJ	55835	.	GRCh37	13	25459431	25459431	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	245	0	ENST00000381884.4:c.3460A>T	p.Ser1154Cys	p.S1154C	ENST00000381884	NM_018451.4	1154	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS9310.1	3460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTGATTT	NONE	.	.	hmmpanther:PTHR10331:SF19,hmmpanther:PTHR10331	.	.	ENSP00000371308	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000381884	Transcript	.	.	ENSG00000151849	17272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	deleterious(0)	.	CENPJ_HUMAN	CENPJ	HGNC	B3KVU9_HUMAN	.	UPI000013DC8A	SNV	CENPJ,missense_variant,p.Ser1154Cys,ENST00000381884,;CENPJ,3_prime_UTR_variant,,ENST00000545981,;CENPJ,downstream_gene_variant,,ENST00000418179,;CENPJ,non_coding_transcript_exon_variant,,ENST00000471870,;CENPJ,non_coding_transcript_exon_variant,,ENST00000493190,;	3646	245	103	SUCCESS
ABCC4	10257	.	GRCh37	13	95768200	95768200	+	synonymous_variant	Silent	SNP	C	C	T	rs148807118	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	195	0	ENST00000376887.4:c.2511G>A	p.Pro837=	p.P837=	ENST00000376887	NM_005845.3	837	ccG/ccA	0	T:0.0009	T:0.0008	.	T:0	.	T	P	protein_coding	YES	CCDS9474.1	2511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCGGCAG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50929,Low_complexity_(Seg):seg	T:0	T:0.0007	ENSP00000366084	T:0	20/31	.	.	.	.	.	.	.	.	rs148807118	20/31	PASS	ENST00000376887	Transcript	.	T:0.0002	ENSG00000125257	55	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MRP4_HUMAN	ABCC4	HGNC	Q8IUA3_HUMAN	.	UPI00001A36E6	SNV	ABCC4,synonymous_variant,p.%3D,ENST00000431522,;ABCC4,synonymous_variant,p.%3D,ENST00000376887,;ABCC4,synonymous_variant,p.%3D,ENST00000412704,;ABCC4,synonymous_variant,p.%3D,ENST00000536256,;	2626	195	99	SUCCESS
TDRD9	122402	.	GRCh37	14	104488538	104488538	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	34	247	0	ENST00000409874.4:c.2477C>T	p.Thr826Ile	p.T826I	ENST00000409874	NM_153046.2	826	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS9987.2	2477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAACCCTTC	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80	.	.	ENSP00000387303	.	24/36	.	.	.	.	.	.	.	.	.	24/36	PASS	ENST00000409874	Transcript	.	.	ENSG00000156414	20122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.59)	.	TDRD9_HUMAN	TDRD9	HGNC	.	.	UPI0001642306	SNV	TDRD9,missense_variant,p.Thr553Ile,ENST00000557332,;TDRD9,missense_variant,p.Thr826Ile,ENST00000339063,;TDRD9,missense_variant,p.Thr826Ile,ENST00000409874,;	2525	247	113	SUCCESS
KIF26A	26153	.	GRCh37	14	104642550	104642550	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	64	0	ENST00000423312.2:c.3425A>G	p.Asp1142Gly	p.D1142G	ENST00000423312	NM_015656.1	1142	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45171.1	3425	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGACCCTG	BUFFER|p.P1147fs*101|c.3435delC|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.61)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Asp1003Gly,ENST00000315264,;KIF26A,missense_variant,p.Asp1142Gly,ENST00000423312,;	3425	65	50	SUCCESS
INF2	64423	.	GRCh37	14	105175658	105175658	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	56	0	ENST00000392634.4:c.1990A>G	p.Thr664Ala	p.T664A	ENST00000392634	NM_022489.3	664	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS9989.2	1990	RADIA|MUTECT|MUSE|VARSCANS	.	GAGATACCACC	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000376410	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000392634	Transcript	1	.	ENSG00000203485	23791	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.21)	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,missense_variant,p.Thr132Ala,ENST00000252527,;INF2,missense_variant,p.Thr664Ala,ENST00000330634,;INF2,missense_variant,p.Thr664Ala,ENST00000392634,;INF2,downstream_gene_variant,,ENST00000398337,;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000477497,;INF2,upstream_gene_variant,,ENST00000480763,;	2102	56	30	SUCCESS
TTC5	91875	.	GRCh37	14	20763925	20763925	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	122	0	ENST00000258821.3:c.785A>G	p.Gln262Arg	p.Q262R	ENST00000258821	NM_138376.2	262	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9546.1	785	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTTGCCGG	NONE	.	.	hmmpanther:PTHR26312:SF69,hmmpanther:PTHR26312,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000258821	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000258821	Transcript	.	.	ENSG00000136319	19274	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.27)	.	TTC5_HUMAN	TTC5	HGNC	.	.	UPI000013D00B	SNV	TTC5,missense_variant,p.Gln207Arg,ENST00000423949,;TTC5,missense_variant,p.Gln262Arg,ENST00000258821,;TTC5,3_prime_UTR_variant,,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;TTC5,downstream_gene_variant,,ENST00000557379,;	842	122	91	SUCCESS
MYH6	4624	.	GRCh37	14	23851737	23851737	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs61731171	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	185	0	ENST00000356287.3:c.5696G>T	p.Arg1899Leu	p.R1899L	ENST00000356287		1899	cGc/cTc	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS9600.1	5696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCGGAAC	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	T:0	ENSP00000386041	.	38/39	.	.	.	.	.	.	.	.	rs61731171,COSM147745	38/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Arg1899Leu,ENST00000405093,;MYH6,missense_variant,p.Arg1899Leu,ENST00000356287,;CMTM5,downstream_gene_variant,,ENST00000555731,;CMTM5,downstream_gene_variant,,ENST00000382809,;CMTM5,downstream_gene_variant,,ENST00000359320,;CMTM5,downstream_gene_variant,,ENST00000397227,;CMTM5,downstream_gene_variant,,ENST00000342473,;CMTM5,downstream_gene_variant,,ENST00000339180,;CMTM5,downstream_gene_variant,,ENST00000553750,;CMTM5,downstream_gene_variant,,ENST00000555487,;	5767	185	117	SUCCESS
AKAP6	9472	.	GRCh37	14	33165314	33165314	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	37	174	1	ENST00000280979.4:c.2998A>T	p.Lys1000Ter	p.K1000*	ENST00000280979	NM_004274.4	1000	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS9644.1	2998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACAAGGTT	NONE	.	.	hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000280979	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,stop_gained,p.Lys1000Ter,ENST00000280979,;AKAP6,stop_gained,p.Lys1000Ter,ENST00000557272,;AKAP6,stop_gained,p.Lys1000Ter,ENST00000557354,;AKAP6,splice_region_variant,,ENST00000555207,;AKAP6,splice_region_variant,,ENST00000555950,;AKAP6,splice_region_variant,,ENST00000557708,;AKAP6,splice_region_variant,,ENST00000557396,;	3168	175	115	SUCCESS
UNC79	57578	.	GRCh37	14	94052959	94052959	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780979845	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	204	0	ENST00000393151.2:c.2821G>A	p.Glu941Lys	p.E941K	ENST00000393151		941	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9911.2	2290	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATACCGAAAGA	NONE	byFrequency	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	21/50	.	.	.	.	.	.	.	.	rs780979845,COSM959005,COSM959006	21/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.115)	.	tolerated_low_confidence(0.28)	0,1,1	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Glu941Lys,ENST00000393151,;UNC79,missense_variant,p.Glu764Lys,ENST00000256339,;UNC79,missense_variant,p.Glu941Lys,ENST00000553484,;UNC79,missense_variant,p.Glu941Lys,ENST00000555664,;	2945	204	64	SUCCESS
OR4N4	283694	.	GRCh37	15	22382936	22382936	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	57	377	0	ENST00000328795.4:c.464A>G	p.His155Arg	p.H155R	ENST00000328795	NM_001005241.2	155	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS32173.1	464	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCACTCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF97,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000332500	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328795	Transcript	.	.	ENSG00000183706	15375	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	OR4N4_HUMAN	OR4N4	HGNC	.	.	UPI0000041C1A	SNV	OR4N4,missense_variant,p.His155Arg,ENST00000328795,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558312,;	555	377	204	SUCCESS
GABRA5	2558	.	GRCh37	15	27114447	27114447	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	43	364	1	ENST00000335625.5:c.52T>G	p.Phe18Val	p.F18V	ENST00000335625	NM_000810.3	18	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS45194.1	52	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTTTTGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Prints_domain:PR01618	.	.	ENSP00000335592	.	3/11	.	.	.	.	.	.	.	.	COSM394640	3/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	tolerated_low_confidence(0.11)	1	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,missense_variant,p.Phe18Val,ENST00000355395,;GABRA5,missense_variant,p.Phe18Val,ENST00000554038,;GABRA5,missense_variant,p.Phe18Val,ENST00000335625,;GABRA5,missense_variant,p.Phe18Val,ENST00000554596,;GABRA5,missense_variant,p.Phe18Val,ENST00000554599,;GABRA5,missense_variant,p.Phe18Val,ENST00000400081,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,intron_variant,,ENST00000555182,;GABRA5,downstream_gene_variant,,ENST00000555060,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557484,;	940	365	206	SUCCESS
TRPM1	4308	.	GRCh37	15	31295063	31295063	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	127	0	ENST00000397795.2:c.3774T>G	p.Leu1258=	p.L1258=	ENST00000397795	NM_002420.5	1258	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS58347.1	3891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGAAGATA	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,synonymous_variant,p.%3D,ENST00000558445,;TRPM1,synonymous_variant,p.%3D,ENST00000542188,;TRPM1,synonymous_variant,p.%3D,ENST00000558768,;TRPM1,synonymous_variant,p.%3D,ENST00000256552,;TRPM1,synonymous_variant,p.%3D,ENST00000397795,;TRPM1,synonymous_variant,p.%3D,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	4205	127	73	SUCCESS
RYR3	6263	.	GRCh37	15	34105063	34105063	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	82	0	ENST00000389232.4:c.10258-1G>C		p.X3420_splice	ENST00000389232	NM_001036.3	3420		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45210.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGTCTGA	NONE	.	.	.	.	.	ENSP00000373884	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	HIGH	72/103	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,splice_acceptor_variant,,ENST00000389232,;RYR3,splice_acceptor_variant,,ENST00000415757,;	.	82	51	SUCCESS
INO80	54617	.	GRCh37	15	41377743	41377743	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	53	509	0	ENST00000361937.3:c.697G>A	p.Glu233Lys	p.E233K	ENST00000361937		233	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10071.1	697	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCATCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF213,hmmpanther:PTHR10799	.	.	ENSP00000355205	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000361937	Transcript	.	.	ENSG00000128908	26956	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.811)	.	tolerated(0.13)	.	INO80_HUMAN	INO80	HGNC	Q9NUK2_HUMAN	.	UPI00001B6AFC	SNV	INO80,missense_variant,p.Glu233Lys,ENST00000361937,;INO80,missense_variant,p.Glu233Lys,ENST00000401393,;INO80,missense_variant,p.Glu233Lys,ENST00000558357,;	1122	509	281	SUCCESS
CSPG4	1464	.	GRCh37	15	75968322	75968322	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370893364	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	20	0	ENST00000308508.5:c.6538G>A	p.Glu2180Lys	p.E2180K	ENST00000308508	NM_001897.4	2180	Gag/Aag	0	T:0.0002	.	.	.	.	T	E/K	protein_coding	YES	CCDS10284.1	6538	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCGGGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	T:0	ENSP00000312506	.	10/10	.	.	.	.	.	.	.	.	rs370893364	10/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.7)	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,missense_variant,p.Glu2180Lys,ENST00000308508,;AC105020.1,upstream_gene_variant,,ENST00000435356,;CTD-2026K11.1,upstream_gene_variant,,ENST00000569467,;	6631	20	25	SUCCESS
PDE8A	5151	.	GRCh37	15	85666356	85666356	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	127	1	ENST00000310298.4:c.2017C>T	p.His673Tyr	p.H673Y	ENST00000310298		673	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10336.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCACTTT	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000311453	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,missense_variant,p.His673Tyr,ENST00000394553,;PDE8A,missense_variant,p.His627Tyr,ENST00000339708,;PDE8A,missense_variant,p.His673Tyr,ENST00000310298,;PDE8A,missense_variant,p.His601Tyr,ENST00000557957,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000561024,;	2269	128	75	SUCCESS
ZNF263	10127	.	GRCh37	16	3335685	3335685	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs763297120	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	26	187	0	ENST00000219069.5:c.573A>T	p.Leu191Phe	p.L191F	ENST00000219069	NM_005741.4	191	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS10499.1	573	RADIA|MUTECT|MUSE|VARSCANS	.	GCATTATCTGC	NONE	byFrequency	.	hmmpanther:PTHR23226:SF50,hmmpanther:PTHR23226	.	.	ENSP00000219069	.	3/6	.	.	.	.	.	.	.	.	rs763297120	3/6	PASS	ENST00000219069	Transcript	.	.	ENSG00000006194	13056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.307)	.	tolerated(0.55)	.	ZN263_HUMAN	ZNF263	HGNC	B4DI05_HUMAN	.	UPI000013C33A	SNV	ZNF263,missense_variant,p.Tyr131Phe,ENST00000573578,;ZNF263,missense_variant,p.Leu191Phe,ENST00000219069,;ZNF263,intron_variant,,ENST00000572748,;ZNF263,intron_variant,,ENST00000538765,;ZNF263,intron_variant,,ENST00000574253,;ZNF263,intron_variant,,ENST00000575823,;ZNF263,upstream_gene_variant,,ENST00000574674,;ZNF263,upstream_gene_variant,,ENST00000575332,;	1449	187	155	SUCCESS
HYDIN	54768	.	GRCh37	16	70995980	70995980	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	189	0	ENST00000393567.2:c.5850G>T	p.Leu1950=	p.L1950=	ENST00000393567	NM_001270974.1	1950	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59269.1	5850	MUSE|VARSCANS	.	CGGCTCAGCGA	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	38/86	.	.	.	.	.	.	.	.	.	38/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,upstream_gene_variant,,ENST00000546297,;	6001	189	117	SUCCESS
MYOCD	93649	.	GRCh37	17	12666487	12666487	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	106	0	ENST00000343344.4:c.2343C>T	p.Pro781=	p.P781=	ENST00000343344		781	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54091.1	2487	SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCTCGGC	NONE	.	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,synonymous_variant,p.%3D,ENST00000343344,;MYOCD,synonymous_variant,p.%3D,ENST00000443061,;MYOCD,synonymous_variant,p.%3D,ENST00000425538,;AC005358.1,downstream_gene_variant,,ENST00000609971,;RP11-1090M7.1,non_coding_transcript_exon_variant,,ENST00000584772,;MYOCD,downstream_gene_variant,,ENST00000395988,;	2687	106	53	SUCCESS
MYO18A	399687	.	GRCh37	17	27449219	27449219	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	79	242	0	ENST00000527372.1:c.1052A>C	p.Lys351Thr	p.K351T	ENST00000527372	NM_078471.3	351	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS45642.1	1052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCTTCTCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293	.	.	ENSP00000437073	.	3/42	.	.	.	.	.	.	.	.	.	3/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0.04)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Lys351Thr,ENST00000527372,;MYO18A,missense_variant,p.Lys351Thr,ENST00000533112,;MYO18A,missense_variant,p.Lys57Thr,ENST00000528564,;MYO18A,missense_variant,p.Lys351Thr,ENST00000354329,;MYO18A,missense_variant,p.Lys351Thr,ENST00000531253,;MYO18A,non_coding_transcript_exon_variant,,ENST00000531267,;MYO18A,non_coding_transcript_exon_variant,,ENST00000533420,;MYO18A,non_coding_transcript_exon_variant,,ENST00000585573,;MYO18A,non_coding_transcript_exon_variant,,ENST00000590242,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000528322,;MYO18A,upstream_gene_variant,,ENST00000588791,;	1233	242	125	SUCCESS
MED24	9862	.	GRCh37	17	38189358	38189358	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762866058	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	67	0	ENST00000394128.2:c.773G>A	p.Gly258Asp	p.G258D	ENST00000394128	NM_014815.3	258	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11359.1	773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGCCTGTC	NONE	byFrequency	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	8/26	.	.	.	.	.	.	.	.	rs762866058	8/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.629)	.	deleterious(0.04)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.Gly277Asp,ENST00000501516,;MED24,missense_variant,p.Gly208Asp,ENST00000535071,;MED24,missense_variant,p.Gly245Asp,ENST00000356271,;MED24,missense_variant,p.Gly258Asp,ENST00000394128,;MED24,missense_variant,p.Gly270Asp,ENST00000428757,;MED24,missense_variant,p.Gly283Asp,ENST00000394126,;MED24,missense_variant,p.Gly187Asp,ENST00000580885,;MED24,missense_variant,p.Gly245Asp,ENST00000394127,;MED24,downstream_gene_variant,,ENST00000582023,;MED24,downstream_gene_variant,,ENST00000578161,;MED24,downstream_gene_variant,,ENST00000543759,;MED24,downstream_gene_variant,,ENST00000580517,;MED24,downstream_gene_variant,,ENST00000585306,;MED24,downstream_gene_variant,,ENST00000537674,;MED24,downstream_gene_variant,,ENST00000479829,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,3_prime_UTR_variant,,ENST00000580008,;MED24,non_coding_transcript_exon_variant,,ENST00000585249,;MED24,non_coding_transcript_exon_variant,,ENST00000577488,;MED24,intron_variant,,ENST00000578901,;MED24,upstream_gene_variant,,ENST00000584077,;MED24,downstream_gene_variant,,ENST00000581054,;	855	67	24	SUCCESS
CAMTA2	23125	.	GRCh37	17	4883278	4883278	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1031912124	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	44	0	ENST00000348066.3:c.1339G>A	p.Asp447Asn	p.D447N	ENST00000348066	NM_015099.3	447	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS54072.1	1408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATCATCTT	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF4	.	.	ENSP00000412886	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000414043	Transcript	.	.	ENSG00000108509	18807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	CMTA2_HUMAN	CAMTA2	HGNC	.	.	UPI0001892BAE	SNV	CAMTA2,missense_variant,p.Asp447Asn,ENST00000348066,;CAMTA2,missense_variant,p.Asp470Asn,ENST00000414043,;CAMTA2,missense_variant,p.Asp449Asn,ENST00000381311,;CAMTA2,missense_variant,p.Asp447Asn,ENST00000358183,;CAMTA2,missense_variant,p.Asp452Asn,ENST00000572543,;CAMTA2,missense_variant,p.Asp446Asn,ENST00000361571,;CAMTA2,downstream_gene_variant,,ENST00000574606,;CAMTA2,upstream_gene_variant,,ENST00000572326,;CAMTA2,downstream_gene_variant,,ENST00000571831,;CAMTA2,upstream_gene_variant,,ENST00000575365,;CAMTA2,3_prime_UTR_variant,,ENST00000574951,;CAMTA2,upstream_gene_variant,,ENST00000575192,;CAMTA2,downstream_gene_variant,,ENST00000575580,;CAMTA2,downstream_gene_variant,,ENST00000573004,;	1562	44	24	SUCCESS
MTMR4	9110	.	GRCh37	17	56582147	56582147	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	78	0	ENST00000323456.5:c.1292C>T	p.Thr431Met	p.T431M	ENST00000323456	NM_004687.4	431	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS11608.1	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGTCCTG	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000325285	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Thr431Met,ENST00000323456,;MTMR4,missense_variant,p.Thr431Met,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000583966,;MTMR4,downstream_gene_variant,,ENST00000580983,;MTMR4,downstream_gene_variant,,ENST00000582663,;	1417	78	42	SUCCESS
METTL2A	339175	.	GRCh37	17	60501620	60501620	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	98	0	ENST00000311506.5:c.151G>A	p.Glu51Lys	p.E51K	ENST00000311506	NM_181725.3	51	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45752.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGGAGAGA	NONE	.	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF4,PIRSF_domain:PIRSF037755	.	.	ENSP00000309610	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000311506	Transcript	.	.	ENSG00000087995	25755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.53)	.	MET2A_HUMAN	METTL2A	HGNC	B3KM33_HUMAN	.	UPI0000201189	SNV	METTL2A,missense_variant,p.Glu51Lys,ENST00000311506,;METTL2A,non_coding_transcript_exon_variant,,ENST00000333483,;	187	98	61	SUCCESS
TP53	7157	.	GRCh37	17	7578524	7578524	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	42	0	ENST00000269305.4:c.406C>T	p.Gln136Ter	p.Q136*	ENST00000269305	NM_001126112.2	136	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11118.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGGCAAA	SITE|p.Q136*|c.406C>T|35,SITE|p.Q4*|c.10C>T|5,SITE|p.Q43*|c.127C>T|5,SITE|p.Q136*|c.406C>T|5,SITE|p.Q136*|c.406C>T|5,SITE|p.Q136*|c.406C>T|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.Q136H|c.408A>C|5,CODON|p.Q136Q|c.408A>G|4,CODON|p.Q136P|c.407A>C|3,BUFFER|p.K139K|c.417G>A|7,BUFFER|p.K139N|c.417G>C|6,BUFFER|p.K139N|c.417G>T|5,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139*|c.415A>T|5,BUFFER|p.K7*|c.19A>T|3,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139E|c.415A>G|4,BUFFER|p.K46*|c.136A>T|3,BUFFER|p.A138fs*32|c.412delG|5,BUFFER|p.A138V|c.413C>T|4,BUFFER|p.A138V|c.413C>T|4,BUFFER|p.A6V|c.17C>T|4,BUFFER|p.A45V|c.134C>T|4,BUFFER|p.A138V|c.413C>T|21,BUFFER|p.A138P|c.412G>C|14,BUFFER|p.A138T|c.412G>A|5,BUFFER|p.A138fs*11|c.411_412insN|3,BUFFER|p.L137L|c.411G>A|3,BUFFER|p.L137P|c.410T>C|3,BUFFER|p.L137Q|c.410T>A|3,BUFFER|p.Q136E|c.406C>G|9,BUFFER|p.Q136E|c.406C>G|6,BUFFER|p.Q4E|c.10C>G|6,BUFFER|p.Q136E|c.406C>G|6,BUFFER|p.Q136E|c.406C>G|4,BUFFER|p.Q136E|c.406C>G|5,BUFFER|p.Q43E|c.127C>G|6,BUFFER|p.C3W|c.9C>G|4,BUFFER|p.C42W|c.126C>G|3,BUFFER|p.C135W|c.405C>G|3,BUFFER|p.C135W|c.405C>G|3,BUFFER|p.C135C|c.405C>T|5,BUFFER|p.C135*|c.405C>A|8,BUFFER|p.C135W|c.405C>G|24,BUFFER|p.C135F|c.404G>T|6,BUFFER|p.C3S|c.8G>C|3,BUFFER|p.C135S|c.404G>C|3,BUFFER|p.C3F|c.8G>T|13,BUFFER|p.C135S|c.404G>C|3,BUFFER|p.C42F|c.125G>T|13,BUFFER|p.C42S|c.125G>C|3,BUFFER|p.C135F|c.404G>T|6,BUFFER|p.C135Y|c.404G>A|8,BUFFER|p.C135Y|c.404G>A|54,BUFFER|p.C135S|c.404G>C|9,BUFFER|p.C135Y|c.404G>A|3,BUFFER|p.C42Y|c.125G>A|8,BUFFER|p.C135Y|c.404G>A|3,BUFFER|p.C135F|c.404G>T|13,BUFFER|p.C135F|c.404G>T|13,BUFFER|p.C135F|c.404G>T|49,BUFFER|p.C135Y|c.404G>A|8,BUFFER|p.C3Y|c.8G>A|8,BUFFER|p.C135fs*35|c.403delT|5,BUFFER|p.C135G|c.403T>G|8,BUFFER|p.C135S|c.403T>A|4,BUFFER|p.C135R|c.403T>C|11,BUFFER|p.C135fs*35|c.400delT|6,BUFFER|p.F134S|c.401T>C|4,BUFFER|p.F134C|c.401T>G|9,BUFFER|p.F134V|c.400T>G|11,BUFFER|p.F41L|c.121T>C|4,BUFFER|p.F134L|c.400T>C|3,BUFFER|p.F134L|c.400T>C|4,BUFFER|p.F2L|c.4T>C|4,BUFFER|p.F134L|c.400T>C|4,BUFFER|p.F134L|c.400T>C|18,BUFFER|p.M133T|c.398T>C|5,BUFFER|p.M133T|c.398T>C|3,BUFFER|p.M133T|c.398T>C|3,BUFFER|p.M133R|c.398T>G|3,BUFFER|p.M133T|c.398T>C|3,BUFFER|p.M40T|c.119T>C|3,BUFFER|p.M1T|c.2T>C|3,BUFFER|p.M1R|c.2T>G|3,BUFFER|p.M133R|c.398T>G|7,BUFFER|p.M133K|c.398T>A|12,BUFFER|p.M133R|c.398T>G|3,BUFFER|p.M40R|c.119T>G|3,BUFFER|p.Y126_K132delYSPALNK|c.376_396del21|6,BUFFER|p.K132N|c.396G>C|29,BUFFER|p.K132N|c.396G>T|3,BUFFER|p.K132N|c.396G>C|5,BUFFER|p.K132N|c.396G>T|6,BUFFER|p.K39N|c.117G>C|5,BUFFER|p.K132N|c.396G>T|24,BUFFER|p.K132N|c.396G>C|5,BUFFER|p.K132N|c.396G>T|6,BUFFER|p.K39N|c.117G>T|6,BUFFER|p.N131delN|c.393_395delCAA|4,BUFFER|p.K132R|c.395A>G|5,BUFFER|p.K132T|c.395A>C|7,BUFFER|p.K39T|c.116A>C|3,BUFFER|p.K132R|c.395A>G|39,BUFFER|p.K132M|c.395A>T|10,BUFFER|p.K132T|c.395A>C|3,BUFFER|p.K132R|c.395A>G|3,BUFFER|p.K132R|c.395A>G|7,BUFFER|p.K132T|c.395A>C|3,BUFFER|p.K132R|c.395A>G|7,BUFFER|p.K39R|c.116A>G|7	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	CM971503,TP53_g.12394C>G,TP53_g.12394del,TP53_g.12394C>T,TP53_g.12394C>A,COSM11166,COSM43767,COSM45123,COSM44866,COSM437597,COSM126985,COSM437598,COSM126986,COSM126988,COSM437600,COSM3403290,COSM3735153,COSM2153121,COSM1736060,COSM126987,COSM437599	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Gln136Ter,ENST00000508793,;TP53,stop_gained,p.Gln136Ter,ENST00000413465,;TP53,stop_gained,p.Gln129Ter,ENST00000604348,;TP53,stop_gained,p.Gln136Ter,ENST00000420246,;TP53,stop_gained,p.Gln136Ter,ENST00000269305,;TP53,stop_gained,p.Gln4Ter,ENST00000509690,;TP53,stop_gained,p.Gln136Ter,ENST00000359597,;TP53,stop_gained,p.Gln43Ter,ENST00000514944,;TP53,stop_gained,p.Gln136Ter,ENST00000445888,;TP53,stop_gained,p.Gln136Ter,ENST00000455263,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	596	42	31	SUCCESS
ENPP7	339221	.	GRCh37	17	77711821	77711821	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	41	0	ENST00000328313.5:c.1353G>A	p.Val451=	p.V451=	ENST00000328313	NM_178543.3	451	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11763.1	1353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTGATTCT	NONE	.	.	hmmpanther:PTHR10151:SF63,hmmpanther:PTHR10151	.	.	ENSP00000332656	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000328313	Transcript	.	.	ENSG00000182156	23764	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENPP7_HUMAN	ENPP7	HGNC	I3L3G5_HUMAN	.	UPI00001983C8	SNV	ENPP7,synonymous_variant,p.%3D,ENST00000328313,;ENPP7,synonymous_variant,p.%3D,ENST00000576512,;	1574	41	30	SUCCESS
ENTHD2	0	.	GRCh37	17	79204256	79204256	+	intron_variant	Intron	SNP	G	G	A	rs183725593	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	28	0	ENST00000300714.3:c.1029+88C>T		p.*343*	ENST00000300714	NM_144679.2			0	.	A:0.0068	.	A:0.0014	.	A	.	protein_coding	YES	CCDS11779.1	.	MUTECT|MUSE	.	GCGCCGGGCAG	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000300714	A:0	.	.	.	.	.	.	.	.	.	rs183725593	.	PASS	ENST00000300714	Transcript	.	A:0.0020	ENSG00000167302	26458	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	AP4AT_HUMAN	ENTHD2	HGNC	.	.	UPI0000071221	SNV	ENTHD2,intron_variant,,ENST00000374769,;ENTHD2,intron_variant,,ENST00000300714,;ENTHD2,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;AC027601.1,intron_variant,,ENST00000569559,;ENTHD2,intron_variant,,ENST00000576090,;ENTHD2,intron_variant,,ENST00000573295,;ENTHD2,intron_variant,,ENST00000571115,;ENTHD2,downstream_gene_variant,,ENST00000570854,;ENTHD2,downstream_gene_variant,,ENST00000574944,;	.	28	19	SUCCESS
SOCS6	9306	.	GRCh37	18	67992724	67992724	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	48	251	0	ENST00000397942.3:c.820G>C	p.Val274Leu	p.V274L	ENST00000397942	NM_004232.3	274	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS11998.1	820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAGTTGTC	BUFFER|p.A276T|c.826G>A|4	.	.	hmmpanther:PTHR10385:SF25,hmmpanther:PTHR10385	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.53)	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,missense_variant,p.Val274Leu,ENST00000397942,;SOCS6,missense_variant,p.Val274Leu,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	1136	251	146	SUCCESS
ATP9B	374868	.	GRCh37	18	77108133	77108134	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	TG	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	148	56	259	0	ENST00000426216.2:c.2844_2845dup	p.Phe949CysfsTer34	p.F949Cfs*34	ENST00000426216	NM_198531.3	947	gct/gcTGt	0	.	.	.	.	.	TG	A/AX	protein_coding	YES	CCDS12014.1	2840-2841	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGCTGTGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF50,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000398076	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000426216	Transcript	.	.	ENSG00000166377	13541	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATP9B_HUMAN	ATP9B	HGNC	.	.	UPI00002371AF	insertion	ATP9B,frameshift_variant,p.Phe270CysfsTer34,ENST00000543761,;ATP9B,frameshift_variant,p.Phe949CysfsTer34,ENST00000307671,;ATP9B,frameshift_variant,p.Phe949CysfsTer34,ENST00000426216,;RP11-800A18.4,upstream_gene_variant,,ENST00000592906,;ATP9B,frameshift_variant,p.Phe10CysfsTer34,ENST00000588921,;ATP9B,splice_region_variant,,ENST00000490210,;ATP9B,intron_variant,,ENST00000590477,;ATP9B,intron_variant,,ENST00000589951,;ATP9B,downstream_gene_variant,,ENST00000586774,;ATP9B,downstream_gene_variant,,ENST00000588895,;	2857-2858	259	204	SUCCESS
SMARCA4	6597	.	GRCh37	19	11143994	11143994	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	80	0	ENST00000344626.4:c.3575G>A	p.Arg1192His	p.R1192H	ENST00000344626	NM_003072.3	1192	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12253.1	3575	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCATCG	CODON|p.R1192C|c.3574C>T|3	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51194	.	.	ENSP00000395654	.	27/36	.	.	.	.	.	.	.	.	COSM1266238,COSM1266237	27/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(1)	.	.	1,1	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Arg1192His,ENST00000450717,;SMARCA4,missense_variant,p.Arg1192His,ENST00000358026,;SMARCA4,missense_variant,p.Arg1192His,ENST00000413806,;SMARCA4,missense_variant,p.Arg1192His,ENST00000444061,;SMARCA4,missense_variant,p.Arg1192His,ENST00000541122,;SMARCA4,missense_variant,p.Arg37His,ENST00000592158,;SMARCA4,missense_variant,p.Arg1192His,ENST00000590574,;SMARCA4,missense_variant,p.Arg1192His,ENST00000344626,;SMARCA4,missense_variant,p.Arg1192His,ENST00000589677,;SMARCA4,missense_variant,p.Arg1192His,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586892,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,downstream_gene_variant,,ENST00000591545,;	3856	80	66	SUCCESS
C19orf80	0	.	GRCh37	19	11350899	11350899	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	65	0	ENST00000252453.8:c.386G>T	p.Ser129Ile	p.S129I	ENST00000252453	NM_018687.6	129	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS54220.1	386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGCGTGC	NONE	.	.	hmmpanther:PTHR21463	.	.	ENSP00000252453	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000252453	Transcript	.	.	ENSG00000130173	24933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.07)	.	BETAT_HUMAN	C19orf80	HGNC	K7EIY2_HUMAN	.	UPI000003F538	SNV	C19orf80,missense_variant,p.Ser129Ile,ENST00000252453,;C19orf80,missense_variant,p.Ser30Ile,ENST00000591200,;C19orf80,intron_variant,,ENST00000587543,;DOCK6,intron_variant,,ENST00000294618,;DOCK6,upstream_gene_variant,,ENST00000590680,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000585904,;DOCK6,upstream_gene_variant,,ENST00000591750,;	405	65	46	SUCCESS
ZNF440	126070	.	GRCh37	19	11941474	11941474	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	276	100	682	2	ENST00000304060.5:c.173A>G	p.Asn58Ser	p.N58S	ENST00000304060	NM_152357.2	58	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42503.1	173	RADIA|VARSCANS	.	CCAAAACCCCA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF35,hmmpanther:PTHR24381	.	.	ENSP00000305373	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000304060	Transcript	.	.	ENSG00000171295	20874	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.32)	.	deleterious(0.03)	.	ZN440_HUMAN	ZNF440	HGNC	K7EJ55_HUMAN,C9JG89_HUMAN	.	UPI0000074249	SNV	ZNF440,missense_variant,p.Asn26Ser,ENST00000588954,;ZNF440,missense_variant,p.Asn58Ser,ENST00000304060,;ZNF440,missense_variant,p.Asn60Ser,ENST00000414255,;ZNF440,missense_variant,p.Asn61Ser,ENST00000427505,;ZNF440,5_prime_UTR_variant,,ENST00000457526,;	337	684	376	SUCCESS
TECR	9524	.	GRCh37	19	14676612	14676612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	79	0	ENST00000215567.5:c.856C>A	p.His286Asn	p.H286N	ENST00000215567	NM_138501.5	286	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS12313.1	856	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGCACCGC	NONE	.	.	hmmpanther:PTHR10556:SF31,hmmpanther:PTHR10556,Pfam_domain:PF02544	.	.	ENSP00000215567	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000215567	Transcript	1	.	ENSG00000099797	4551	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TECR_HUMAN	TECR	HGNC	M0R0N5_HUMAN,M0QXS1_HUMAN,B4DR74_HUMAN	.	UPI00000534C6	SNV	TECR,missense_variant,p.His131Asn,ENST00000596073,;TECR,missense_variant,p.His128Asn,ENST00000601187,;TECR,missense_variant,p.His301Asn,ENST00000436007,;TECR,missense_variant,p.His131Asn,ENST00000600083,;TECR,missense_variant,p.His286Asn,ENST00000215567,;NDUFB7,downstream_gene_variant,,ENST00000215565,;TECR,downstream_gene_variant,,ENST00000594545,;TECR,downstream_gene_variant,,ENST00000598715,;TECR,downstream_gene_variant,,ENST00000598298,;TECR,downstream_gene_variant,,ENST00000596164,;TECR,3_prime_UTR_variant,,ENST00000598987,;TECR,non_coding_transcript_exon_variant,,ENST00000594958,;TECR,non_coding_transcript_exon_variant,,ENST00000598408,;TECR,non_coding_transcript_exon_variant,,ENST00000600395,;TECR,non_coding_transcript_exon_variant,,ENST00000599101,;TECR,non_coding_transcript_exon_variant,,ENST00000601350,;TECR,non_coding_transcript_exon_variant,,ENST00000593775,;TECR,non_coding_transcript_exon_variant,,ENST00000597607,;TECR,downstream_gene_variant,,ENST00000601461,;TECR,downstream_gene_variant,,ENST00000598918,;TECR,downstream_gene_variant,,ENST00000600076,;TECR,downstream_gene_variant,,ENST00000593637,;TECR,downstream_gene_variant,,ENST00000598333,;TECR,downstream_gene_variant,,ENST00000596953,;TECR,downstream_gene_variant,,ENST00000601652,;NDUFB7,downstream_gene_variant,,ENST00000593353,;TECR,downstream_gene_variant,,ENST00000594807,;	993	79	64	SUCCESS
PCSK4	54760	.	GRCh37	19	1484101	1484101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	63	64	0	ENST00000300954.5:c.1094G>A	p.Cys365Tyr	p.C365Y	ENST00000300954	NM_017573.3	365	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS12069.2	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCACCCG	NONE	.	.	hmmpanther:PTHR10795:SF338,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743	.	.	ENSP00000300954	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000300954	Transcript	.	.	ENSG00000115257	8746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCSK4_HUMAN	PCSK4	HGNC	.	.	UPI000014E136	SNV	PCSK4,missense_variant,p.Cys365Tyr,ENST00000300954,;PCSK4,downstream_gene_variant,,ENST00000588671,;C19orf25,upstream_gene_variant,,ENST00000586564,;C19orf25,upstream_gene_variant,,ENST00000436106,;C19orf25,upstream_gene_variant,,ENST00000588427,;C19orf25,upstream_gene_variant,,ENST00000592872,;C19orf25,upstream_gene_variant,,ENST00000588871,;C19orf25,upstream_gene_variant,,ENST00000427685,;C19orf25,upstream_gene_variant,,ENST00000589529,;C19orf25,upstream_gene_variant,,ENST00000585675,;CTB-25B13.6,upstream_gene_variant,,ENST00000585643,;C19orf25,upstream_gene_variant,,ENST00000591027,;C19orf25,upstream_gene_variant,,ENST00000592605,;PCSK4,downstream_gene_variant,,ENST00000591687,;PCSK4,downstream_gene_variant,,ENST00000590057,;PCSK4,downstream_gene_variant,,ENST00000587784,;PCSK4,missense_variant,p.Ala302Thr,ENST00000591201,;PCSK4,synonymous_variant,p.%3D,ENST00000588195,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586002,;PCSK4,upstream_gene_variant,,ENST00000591303,;PCSK4,upstream_gene_variant,,ENST00000586074,;C19orf25,upstream_gene_variant,,ENST00000589421,;	1156	64	115	SUCCESS
WDR62	284403	.	GRCh37	19	36582154	36582154	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	131	0	ENST00000270301.7:c.2087G>A	p.Ser696Asn	p.S696N	ENST00000270301		696	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS46059.1	2087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGCATCT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF362,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000384792	.	17/32	.	.	.	.	.	.	.	.	.	17/32	PASS	ENST00000401500	Transcript	1	.	ENSG00000075702	24502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(1)	.	WDR62_HUMAN	WDR62	HGNC	.	.	UPI000022A7E9	SNV	WDR62,missense_variant,p.Ser696Asn,ENST00000270301,;WDR62,missense_variant,p.Ser696Asn,ENST00000401500,;WDR62,3_prime_UTR_variant,,ENST00000587391,;	2122	131	100	SUCCESS
WDR87	83889	.	GRCh37	19	38377028	38377028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	54	409	0	ENST00000303868.5:c.7166C>A	p.Pro2389His	p.P2389H	ENST00000303868	NM_031951.3	2389	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS46063.1	7166	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGGGCTT	NONE	.	.	.	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Pro2428His,ENST00000447313,;WDR87,missense_variant,p.Pro2389His,ENST00000303868,;	7391	409	249	SUCCESS
SPTBN4	57731	.	GRCh37	19	41073984	41073984	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1455693385	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	33	0	ENST00000352632.3:c.6752G>A	p.Arg2251Gln	p.R2251Q	ENST00000352632		2251	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12559.1	6752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGCAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002297,SMART_domains:SM00150	.	.	ENSP00000263373	.	31/36	.	.	.	.	.	.	.	.	.	31/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	tolerated_low_confidence(0.05)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Arg2251Gln,ENST00000352632,;SPTBN4,missense_variant,p.Arg994Gln,ENST00000392025,;SPTBN4,missense_variant,p.Arg2251Gln,ENST00000598249,;SPTBN4,downstream_gene_variant,,ENST00000338932,;SPTBN4,upstream_gene_variant,,ENST00000599926,;SPTBN4,upstream_gene_variant,,ENST00000593816,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,upstream_gene_variant,,ENST00000596411,;SPTBN4,upstream_gene_variant,,ENST00000595690,;	6838	33	34	SUCCESS
PSG11	5680	.	GRCh37	19	43529064	43529064	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	16	204	0	ENST00000320078.7:c.209G>A	p.Gly70Glu	p.G70E	ENST00000320078	NM_002785.2	70	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS12614.2	209	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCCTTTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF108	.	.	ENSP00000384995	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000401740	Transcript	.	.	ENSG00000243130	9516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	PSG11_HUMAN	PSG11	HGNC	.	.	UPI000004EE8C	SNV	PSG11,missense_variant,p.Gly70Glu,ENST00000401740,;PSG11,missense_variant,p.Gly70Glu,ENST00000598133,;PSG11,missense_variant,p.Gly70Glu,ENST00000320078,;PSG11,intron_variant,,ENST00000306322,;PSG11,intron_variant,,ENST00000403486,;PSG11,missense_variant,p.Gly34Glu,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000595138,;PSG11,non_coding_transcript_exon_variant,,ENST00000594655,;PSG11,non_coding_transcript_exon_variant,,ENST00000599245,;PSG11,intron_variant,,ENST00000488205,;PSG11,upstream_gene_variant,,ENST00000597093,;	313	204	154	SUCCESS
PSG9	5678	.	GRCh37	19	43763032	43763032	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	87	0	ENST00000270077.3:c.965A>C	p.Asn322Thr	p.N322T	ENST00000270077	NM_002784.3	322	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS12618.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTTACTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126,PROSITE_profiles:PS50835	.	.	ENSP00000270077	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000270077	Transcript	.	.	ENSG00000183668	9526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.369)	.	tolerated(1)	.	PSG9_HUMAN	PSG9	HGNC	Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN	.	UPI00001327A5	SNV	PSG9,missense_variant,p.Asn229Thr,ENST00000443718,;PSG9,missense_variant,p.Asn229Thr,ENST00000418820,;PSG9,missense_variant,p.Asn322Thr,ENST00000270077,;PSG9,intron_variant,,ENST00000593948,;PSG9,intron_variant,,ENST00000244293,;PSG9,intron_variant,,ENST00000596730,;PSG9,intron_variant,,ENST00000291752,;PSG9,non_coding_transcript_exon_variant,,ENST00000595404,;	1062	87	107	SUCCESS
LMTK3	114783	.	GRCh37	19	49013717	49013717	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	16	123	0	ENST00000600059.1:c.209A>C	p.Lys70Thr	p.K70T	ENST00000600059		70	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS46136.1	296	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTTGAAG	NONE	.	.	hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF1	.	.	ENSP00000270238	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000270238	Transcript	.	.	ENSG00000142235	19295	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	.	.	.	LMTK3	HGNC	.	.	UPI00001D8182	SNV	LMTK3,missense_variant,p.Lys70Thr,ENST00000600059,;LMTK3,missense_variant,p.Lys99Thr,ENST00000270238,;CTC-273B12.10,downstream_gene_variant,,ENST00000598924,;	296	123	113	SUCCESS
PRR12	57479	.	GRCh37	19	50124861	50124861	+	synonymous_variant	Silent	SNP	G	G	A	rs780582166	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	19	0	ENST00000418929.2:c.5703G>A	p.Ser1901=	p.S1901=	ENST00000418929	NM_020719.1	1901	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46143.1	5703	RADIA|MUTECT|VARSCANS	.	CTGTCGCTAAG	NONE	byFrequency	.	hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709,Pfam_domain:PF13926	.	.	ENSP00000394510	.	11/14	.	.	.	.	.	.	.	.	rs780582166	11/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,synonymous_variant,p.%3D,ENST00000418929,;CTB-33G10.11,downstream_gene_variant,,ENST00000600665,;PRR12,non_coding_transcript_exon_variant,,ENST00000593853,;	5715	19	23	SUCCESS
MYBPC2	4606	.	GRCh37	19	50957533	50957533	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747991496	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	52	1	ENST00000357701.5:c.1921C>A	p.Pro641Thr	p.P641T	ENST00000357701	NM_004533.3	641	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS46152.1	1921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCCCCCG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726	.	.	ENSP00000350332	.	18/28	.	.	.	.	.	.	.	.	rs747991496	18/28	PASS	ENST00000357701	Transcript	.	.	ENSG00000086967	7550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,missense_variant,p.Pro641Thr,ENST00000357701,;	1972	53	67	SUCCESS
TFPT	29844	.	GRCh37	19	54611472	54611472	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774342975	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	97	0	ENST00000391759.1:c.503C>T	p.Pro168Leu	p.P168L	ENST00000391759	NM_013342.3	168	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12878.1	503	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGGGGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000375639	.	5/6	.	.	.	.	.	.	.	.	rs774342975	5/6	PASS	ENST00000391759	Transcript	.	.	ENSG00000105619	13630	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.066)	.	tolerated(0.17)	.	TFPT_HUMAN	TFPT	HGNC	G5E9B5_HUMAN	.	UPI000006CFD4	SNV	TFPT,missense_variant,p.Pro168Leu,ENST00000391759,;TFPT,missense_variant,p.Arg156Cys,ENST00000391757,;TFPT,missense_variant,p.Pro159Leu,ENST00000391758,;NDUFA3,intron_variant,,ENST00000391764,;NDUFA3,downstream_gene_variant,,ENST00000420296,;NDUFA3,downstream_gene_variant,,ENST00000485876,;NDUFA3,downstream_gene_variant,,ENST00000391762,;NDUFA3,downstream_gene_variant,,ENST00000391763,;NDUFA3,downstream_gene_variant,,ENST00000303553,;NDUFA3,downstream_gene_variant,,ENST00000471292,;NDUFA3,upstream_gene_variant,,ENST00000480713,;NDUFA3,upstream_gene_variant,,ENST00000482960,;TFPT,3_prime_UTR_variant,,ENST00000420715,;NDUFA3,intron_variant,,ENST00000422029,;NDUFA3,intron_variant,,ENST00000419113,;NDUFA3,downstream_gene_variant,,ENST00000484103,;NDUFA3,downstream_gene_variant,,ENST00000451517,;NDUFA3,downstream_gene_variant,,ENST00000417903,;	909	97	78	SUCCESS
LILRB4	11006	.	GRCh37	19	55175343	55175343	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	51	304	0	ENST00000391736.1:c.202C>G	p.Pro68Ala	p.P68A	ENST00000391736	NM_001278430.2	68	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS12902.1	202	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACCCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000375616	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000391736	Transcript	.	.	ENSG00000186818	6608	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.77)	.	LIRB4_HUMAN	LILRB4	HGNC	.	.	UPI000013D889	SNV	LILRB4,missense_variant,p.Pro68Ala,ENST00000434286,;LILRB4,missense_variant,p.Pro68Ala,ENST00000270452,;LILRB4,missense_variant,p.Pro68Ala,ENST00000391733,;LILRB4,missense_variant,p.Pro68Ala,ENST00000391736,;LILRB4,missense_variant,p.Pro68Ala,ENST00000391734,;LILRB4,missense_variant,p.Pro68Ala,ENST00000430952,;LILRB4,non_coding_transcript_exon_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,upstream_gene_variant,,ENST00000470943,;	517	304	269	SUCCESS
MISP	126353	.	GRCh37	19	756999	756999	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	11	97	0	ENST00000215582.6:c.53G>C	p.Gly18Ala	p.G18A	ENST00000215582	NM_173481.2	18	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS12042.1	53	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGCACCG	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.21)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Gly18Ala,ENST00000215582,;	156	97	94	SUCCESS
PTPN22	26191	.	GRCh37	1	114380695	114380695	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	127	0	ENST00000359785.5:c.1327C>A	p.Pro443Thr	p.P443T	ENST00000359785	NM_015967.5	443	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS863.1	1327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGCACCT	NONE	.	.	PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0.01)	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Pro388Thr,ENST00000528414,;PTPN22,missense_variant,p.Pro443Thr,ENST00000420377,;PTPN22,missense_variant,p.Pro443Thr,ENST00000359785,;PTPN22,missense_variant,p.Pro316Thr,ENST00000525799,;PTPN22,missense_variant,p.Pro199Thr,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	1463	127	38	SUCCESS
GJA8	2703	.	GRCh37	1	147380863	147380863	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	70	0	ENST00000369235.1:c.781C>T	p.Gln261Ter	p.Q261*	ENST00000369235		261	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS30834.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCAGAAA	NONE	.	.	Prints_domain:PR01137,Pfam_domain:PF03509,hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	SNV	GJA8,stop_gained,p.Gln261Ter,ENST00000240986,;GJA8,stop_gained,p.Gln261Ter,ENST00000369235,;	834	70	62	SUCCESS
CRTC2	200186	.	GRCh37	1	153924495	153924495	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	73	0	ENST00000368633.1:c.996A>G		p.X332_splice	ENST00000368633	NM_181715.2	332	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS30875.1	996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTGGTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589	.	.	ENSP00000357622	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000368633	Transcript	.	.	ENSG00000160741	27301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRTC2_HUMAN	CRTC2	HGNC	Q8WZ18_HUMAN,Q8N332_HUMAN	.	UPI00001A9468	SNV	CRTC2,synonymous_variant,p.%3D,ENST00000368633,;CRTC2,intron_variant,,ENST00000368630,;CRTC2,downstream_gene_variant,,ENST00000492073,;CRTC2,downstream_gene_variant,,ENST00000476883,;CRTC2,synonymous_variant,p.%3D,ENST00000461638,;CRTC2,splice_region_variant,,ENST00000303569,;CRTC2,splice_region_variant,,ENST00000487235,;CRTC2,non_coding_transcript_exon_variant,,ENST00000524997,;CRTC2,downstream_gene_variant,,ENST00000467860,;CRTC2,downstream_gene_variant,,ENST00000493909,;	1124	73	53	SUCCESS
GON4L	54856	.	GRCh37	1	155723018	155723018	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	24	229	0	ENST00000368331.1:c.5819G>A	p.Arg1940Lys	p.R1940K	ENST00000368331	NM_001037533.1	1940	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS44242.1	5819	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCTGGTG	NONE	.	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF10	.	.	ENSP00000396117	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.14)	.	deleterious_low_confidence(0.03)	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,missense_variant,p.Arg1940Lys,ENST00000437809,;GON4L,missense_variant,p.Arg1940Lys,ENST00000368331,;GON4L,missense_variant,p.Arg1940Lys,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,upstream_gene_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;GON4L,downstream_gene_variant,,ENST00000483032,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;	5942	229	192	SUCCESS
TNR	7143	.	GRCh37	1	175355369	175355369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs868755868	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	28	0	ENST00000263525.2:c.1576C>T	p.Pro526Ser	p.P526S	ENST00000263525	NM_003285.2	526	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1318.1	1576	RADIA|VARSCANS	.	AGGGGGAATCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	8/23	.	.	.	.	.	.	.	.	COSM3863612	8/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0.03)	1	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Pro526Ser,ENST00000367674,;TNR,missense_variant,p.Pro526Ser,ENST00000263525,;	2285	28	30	SUCCESS
RNASEL	6041	.	GRCh37	1	182554500	182554500	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200144732	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	32	320	0	ENST00000367559.3:c.1442A>G	p.Tyr481Cys	p.Y481C	ENST00000367559	NM_021133.3	481	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1347.1	1442	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGTATCCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24141,PROSITE_profiles:PS50011	.	.	ENSP00000356530	.	2/7	.	.	.	.	.	.	.	.	rs200144732	2/7	PASS	ENST00000367559	Transcript	.	.	ENSG00000135828	10050	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	RN5A_HUMAN	RNASEL	HGNC	.	.	UPI000005339F	SNV	RNASEL,missense_variant,p.Tyr481Cys,ENST00000444138,;RNASEL,missense_variant,p.Tyr481Cys,ENST00000539397,;RNASEL,missense_variant,p.Tyr481Cys,ENST00000367559,;	1696	321	192	SUCCESS
SYT2	127833	.	GRCh37	1	202572235	202572235	+	synonymous_variant	Silent	SNP	G	G	A	rs141305662	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	16	101	0	ENST00000367267.1:c.357C>T	p.Asp119=	p.D119=	ENST00000367267	NM_001136504.1	119	gaC/gaT	0	A:0	A:0.0008	.	A:0	.	A	D	protein_coding	YES	CCDS1427.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGTCGTC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10024:SF208,hmmpanther:PTHR10024	A:0	A:0.0006	ENSP00000356236	A:0	4/9	.	.	.	.	.	.	.	.	rs141305662	4/9	common_in_exac	ENST00000367267	Transcript	.	A:0.0002	ENSG00000143858	11510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SYT2_HUMAN	SYT2	HGNC	.	.	UPI000006E8FC	SNV	SYT2,synonymous_variant,p.%3D,ENST00000367267,;SYT2,synonymous_variant,p.%3D,ENST00000367268,;RP11-569A11.1,upstream_gene_variant,,ENST00000428573,;	550	101	87	SUCCESS
DUSP10	11221	.	GRCh37	1	221912367	221912367	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	18	181	0	ENST00000366899.3:c.720C>T	p.Thr240=	p.T240=	ENST00000366899	NM_007207.4	240	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1528.1	720	RADIA|MUTECT|MUSE|VARSCANS	.	TCATTGGTATT	NONE	.	.	Superfamily_domains:SSF52821,SMART_domains:SM00450,Gene3D:3.40.250.10,Pfam_domain:PF00581,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF299,PROSITE_profiles:PS50206	.	.	ENSP00000355866	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000366899	Transcript	.	.	ENSG00000143507	3065	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DUS10_HUMAN	DUSP10	HGNC	.	.	UPI000003473B	SNV	DUSP10,synonymous_variant,p.%3D,ENST00000366899,;DUSP10,intron_variant,,ENST00000323825,;DUSP10,upstream_gene_variant,,ENST00000544095,;DUSP10,intron_variant,,ENST00000477026,;DUSP10,upstream_gene_variant,,ENST00000468085,;	959	181	140	SUCCESS
RYR2	6262	.	GRCh37	1	237948157	237948157	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	76	0	ENST00000366574.2:c.13145T>A	p.Leu4382Gln	p.L4382Q	ENST00000366574	NM_001035.2	4382	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS55691.1	13145	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCCTGGATC	NONE	.	.	Pfam_domain:PF06459,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	.	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Leu4366Gln,ENST00000542537,;RYR2,missense_variant,p.Leu4382Gln,ENST00000366574,;RYR2,missense_variant,p.Leu4388Gln,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	13462	76	68	SUCCESS
OR2T4	127074	.	GRCh37	1	248525606	248525606	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	848	63	1081	0	ENST00000366475.1:c.724C>A	p.Pro242Thr	p.P242T	ENST00000366475	NM_001004696.1	242	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS31113.1	724	MUTECT|MUSE	.	TCATCCCTGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355431	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366475	Transcript	.	.	ENSG00000196944	15016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.764)	.	deleterious(0)	.	OR2T4_HUMAN	OR2T4	HGNC	.	.	UPI000004B9CC	SNV	OR2T4,missense_variant,p.Pro242Thr,ENST00000366475,;	724	1081	911	SUCCESS
OR2T6	254879	.	GRCh37	1	248551626	248551626	+	synonymous_variant	Silent	SNP	C	C	T	rs148186126	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	74	286	0	ENST00000355728.2:c.717C>T	p.Ala239=	p.A239=	ENST00000355728	NM_001005471.1	239	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31114.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	TTTGCCACCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	rs148186126,COSM107382	1/1	PASS	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	.	.	.	1,1	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,synonymous_variant,p.%3D,ENST00000355728,;	717	286	273	SUCCESS
OR2G6	391211	.	GRCh37	1	248684959	248684959	+	synonymous_variant	Silent	SNP	C	C	T	rs761336846	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	69	236	0	ENST00000343414.4:c.12C>T	p.Thr4=	p.T4=	ENST00000343414	NM_001013355.1	4	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31119.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCAACAA	BUFFER|p.E3K|c.7G>A|3	.	.	hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	rs761336846,COSM534105	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,synonymous_variant,p.%3D,ENST00000343414,;	44	236	201	SUCCESS
OR2T10	127069	.	GRCh37	1	248756794	248756794	+	synonymous_variant	Silent	SNP	G	G	T	rs752484861	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	28	210	0	ENST00000330500.2:c.276C>A	p.Ile92=	p.I92=	ENST00000330500	NM_001004693.1	92	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31121.1	276	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGAGATGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000329210	.	1/1	.	.	.	.	.	.	.	.	rs752484861	1/1	PASS	ENST00000330500	Transcript	.	.	ENSG00000184022	19573	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O2T10_HUMAN	OR2T10	HGNC	.	.	UPI000004F23B	SNV	OR2T10,synonymous_variant,p.%3D,ENST00000330500,;Y_RNA,downstream_gene_variant,,ENST00000364732,;	307	210	166	SUCCESS
EIF3I	8668	.	GRCh37	1	32688077	32688077	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	104	0	ENST00000373586.1:c.3+32G>A		p.*1*	ENST00000373586	NM_003757.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS357.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGGGTCC	NONE	.	.	.	.	.	ENSP00000362688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373586	Transcript	.	.	ENSG00000084623	3272	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF3I_HUMAN	EIF3I	HGNC	Q9P1D9_HUMAN,Q5U0F4_HUMAN,Q5TFK1_HUMAN	.	UPI000012D2FB	SNV	EIF3I,intron_variant,,ENST00000373586,;EIF3I,intron_variant,,ENST00000355082,;TMEM234,upstream_gene_variant,,ENST00000309777,;TMEM234,upstream_gene_variant,,ENST00000545122,;TMEM234,upstream_gene_variant,,ENST00000344461,;TMEM234,upstream_gene_variant,,ENST00000373593,;EIF3I,non_coding_transcript_exon_variant,,ENST00000471486,;EIF3I,non_coding_transcript_exon_variant,,ENST00000483517,;EIF3I,intron_variant,,ENST00000489353,;EIF3I,upstream_gene_variant,,ENST00000474371,;TMEM234,upstream_gene_variant,,ENST00000484490,;TMEM234,upstream_gene_variant,,ENST00000483001,;TMEM234,upstream_gene_variant,,ENST00000491434,;TMEM234,upstream_gene_variant,,ENST00000487174,;TMEM234,upstream_gene_variant,,ENST00000489170,;TMEM234,upstream_gene_variant,,ENST00000461402,;TMEM234,upstream_gene_variant,,ENST00000466796,;	.	104	69	SUCCESS
INADL	0	.	GRCh37	1	62330235	62330235	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	78	0	ENST00000371158.2:c.2765A>C	p.Gln922Pro	p.Q922P	ENST00000371158	NM_176877.2	922	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS617.2	2765	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCTCAAGAGG	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964	.	.	ENSP00000360200	.	20/43	.	.	.	.	.	.	.	.	.	20/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.41)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Gln922Pro,ENST00000316485,;INADL,missense_variant,p.Gln922Pro,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000493967,;INADL,non_coding_transcript_exon_variant,,ENST00000488913,;INADL,missense_variant,p.Gln381Pro,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	2879	78	31	SUCCESS
SIRPG	55423	.	GRCh37	20	1629885	1629885	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	476	266	1028	0	ENST00000303415.3:c.243A>C	p.Lys81Asn	p.K81N	ENST00000303415	NM_018556.3	81	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS13020.2	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTTTTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000305529	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000303415	Transcript	.	.	ENSG00000089012	15757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.095)	.	deleterious(0.03)	.	SIRPG_HUMAN	SIRPG	HGNC	.	.	UPI00001AE5FD	SNV	SIRPG,missense_variant,p.Lys81Asn,ENST00000381583,;SIRPG,missense_variant,p.Lys48Asn,ENST00000381580,;SIRPG,missense_variant,p.Lys81Asn,ENST00000303415,;SIRPG,missense_variant,p.Lys81Asn,ENST00000216927,;SIRPG,missense_variant,p.Lys81Asn,ENST00000344103,;RP11-77C3.3,downstream_gene_variant,,ENST00000456177,;	308	1028	742	SUCCESS
C20orf27	54976	.	GRCh37	20	3735113	3735113	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1239002127	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	57	0	ENST00000379772.3:c.355G>A	p.Glu119Lys	p.E119K	ENST00000379772	NM_001258429.1	119	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33436.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTCCTCTT	NONE	.	.	hmmpanther:PTHR13287,Pfam_domain:PF15006	.	.	ENSP00000217195	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000217195	Transcript	.	.	ENSG00000101220	15873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.376)	.	deleterious(0.02)	.	CT027_HUMAN	C20orf27	HGNC	.	.	UPI0000470A46	SNV	C20orf27,missense_variant,p.Glu119Lys,ENST00000379772,;C20orf27,missense_variant,p.Glu119Lys,ENST00000399672,;C20orf27,missense_variant,p.Glu144Lys,ENST00000217195,;C20orf27,intron_variant,,ENST00000399683,;HSPA12B,downstream_gene_variant,,ENST00000542646,;HSPA12B,downstream_gene_variant,,ENST00000254963,;HSPA12B,downstream_gene_variant,,ENST00000399701,;	582	57	69	SUCCESS
RTFDC1	0	.	GRCh37	20	55048453	55048453	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	72	0	ENST00000023939.4:c.164+2T>A		p.X55_splice	ENST00000023939	NM_016407.3	55		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13453.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTATGGT	NONE	.	.	.	.	.	ENSP00000023939	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000023939	Transcript	.	.	ENSG00000022277	15890	.	.	HIGH	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTF2_HUMAN	RTFDC1	HGNC	.	.	UPI000013C542	SNV	RTFDC1,splice_donor_variant,,ENST00000357348,;RTFDC1,splice_donor_variant,,ENST00000395881,;RTFDC1,splice_donor_variant,,ENST00000449062,;RTFDC1,splice_donor_variant,,ENST00000023939,;RTFDC1,downstream_gene_variant,,ENST00000435342,;snoU13,upstream_gene_variant,,ENST00000459416,;RTFDC1,splice_donor_variant,,ENST00000466260,;RTFDC1,splice_donor_variant,,ENST00000487211,;RTFDC1,downstream_gene_variant,,ENST00000484084,;	.	72	38	SUCCESS
SLC17A9	63910	.	GRCh37	20	61588131	61588131	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1397666755	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	41	0	ENST00000370351.4:c.74C>T	p.Ala25Val	p.A25V	ENST00000370351	NM_022082.3	25	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42901.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCATGGA	NONE	.	.	Superfamily_domains:SSF103473,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662	.	.	ENSP00000359376	.	2/13	.	.	.	.	.	.	.	.	COSM4164787,COSM4164788	2/13	PASS	ENST00000370351	Transcript	1	.	ENSG00000101194	16192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.001)	.	tolerated(1)	1,1	S17A9_HUMAN	SLC17A9	HGNC	.	.	UPI000014051D	SNV	SLC17A9,missense_variant,p.Ala25Val,ENST00000370351,;SLC17A9,missense_variant,p.Ala45Val,ENST00000411611,;SLC17A9,missense_variant,p.Ala19Val,ENST00000370349,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;	205	41	24	SUCCESS
SYNJ1	8867	.	GRCh37	21	34022586	34022586	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	70	376	0	ENST00000433931.2:c.3062G>A	p.Ser1021Asn	p.S1021N	ENST00000433931	NM_003895.3	1021	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS33539.2	3062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAACTCATT	NONE	.	.	Pfam_domain:PF08952,hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200	.	.	ENSP00000409667	.	23/32	.	.	.	.	.	.	.	.	.	23/32	PASS	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.52)	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	SNV	SYNJ1,missense_variant,p.Ser1021Asn,ENST00000382499,;SYNJ1,missense_variant,p.Ser977Asn,ENST00000382491,;SYNJ1,missense_variant,p.Ser982Asn,ENST00000322229,;SYNJ1,missense_variant,p.Ser1021Asn,ENST00000433931,;SYNJ1,missense_variant,p.Ser982Asn,ENST00000357345,;SYNJ1,upstream_gene_variant,,ENST00000416083,;SYNJ1,upstream_gene_variant,,ENST00000438952,;SYNJ1,non_coding_transcript_exon_variant,,ENST00000467445,;	3070	376	217	SUCCESS
MICAL3	57553	.	GRCh37	22	18358243	18358243	+	intron_variant	Intron	SNP	G	G	A	rs201286172	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	68	0	ENST00000441493.2:c.2242-3454C>T		p.*748*	ENST00000441493	NM_015241.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS46659.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGGGGCG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000416015	A:0.001	.	.	.	.	.	.	.	.	.	rs201286172	.	PASS	ENST00000441493	Transcript	.	A:0.0004	ENSG00000243156	24694	.	.	MODIFIER	16/31	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000585038,;MICAL3,synonymous_variant,p.%3D,ENST00000429452,;MICAL3,intron_variant,,ENST00000207726,;MICAL3,intron_variant,,ENST00000444520,;MICAL3,intron_variant,,ENST00000383094,;MICAL3,intron_variant,,ENST00000414725,;MICAL3,intron_variant,,ENST00000461307,;MICAL3,intron_variant,,ENST00000441493,;MICAL3,intron_variant,,ENST00000400561,;MICAL3,intron_variant,,ENST00000465886,;MICAL3,intron_variant,,ENST00000462645,;MICAL3,intron_variant,,ENST00000498345,;MICAL3,intron_variant,,ENST00000495076,;	.	68	56	SUCCESS
TCF20	6942	.	GRCh37	22	42606748	42606748	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	279	19	332	0	ENST00000359486.3:c.4564T>A	p.Ser1522Thr	p.S1522T	ENST00000359486	NM_005650.2	1522	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS14033.1	4564	MUTECT|MUSE	.	CGGTGAAATCG	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Ser1522Thr,ENST00000335626,;TCF20,missense_variant,p.Ser1522Thr,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	4701	332	299	SUCCESS
ACTR3	10096	.	GRCh37	2	114691952	114691952	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	79	0	ENST00000263238.2:c.529G>T	p.Val177Phe	p.V177F	ENST00000263238	NM_005721.4	177	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33277.1	529	RADIA|MUSE|VARSCANS	.	CTCATGTCATT	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF175,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000263238	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000263238	Transcript	.	.	ENSG00000115091	170	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.835)	.	deleterious(0)	.	ARP3_HUMAN	ACTR3	HGNC	B4DXW1_HUMAN,B4DTI0_HUMAN	.	UPI000000DA9A	SNV	ACTR3,missense_variant,p.Val126Phe,ENST00000535589,;ACTR3,missense_variant,p.Val115Phe,ENST00000536059,;ACTR3,missense_variant,p.Val177Phe,ENST00000263238,;ACTR3,3_prime_UTR_variant,,ENST00000446821,;ACTR3,3_prime_UTR_variant,,ENST00000415792,;ACTR3,non_coding_transcript_exon_variant,,ENST00000484165,;ACTR3,non_coding_transcript_exon_variant,,ENST00000489779,;ACTR3,downstream_gene_variant,,ENST00000443297,;	849	80	38	SUCCESS
SMPD4	55627	.	GRCh37	2	130930247	130930247	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755218803	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	29	173	0	ENST00000409031.1:c.575C>A	p.Pro192Gln	p.P192Q	ENST00000409031	NM_017951.4	192	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS42751.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACGGATCT	CODON|p.P192L|c.575C>T|3	byFrequency	.	hmmpanther:PTHR12988,Pfam_domain:PF14724	.	.	ENSP00000386531	.	7/20	.	.	.	.	.	.	.	.	rs755218803,COSM3114208	7/20	PASS	ENST00000409031	Transcript	.	.	ENSG00000136699	32949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.29)	.	deleterious(0)	0,1	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	SNV	SMPD4,missense_variant,p.Pro79Gln,ENST00000339679,;SMPD4,missense_variant,p.Pro21Gln,ENST00000439886,;SMPD4,missense_variant,p.Pro192Gln,ENST00000351288,;SMPD4,missense_variant,p.Pro192Gln,ENST00000409031,;SMPD4,missense_variant,p.Pro119Gln,ENST00000431183,;SMPD4,intron_variant,,ENST00000453750,;SMPD4,intron_variant,,ENST00000452225,;SMPD4,intron_variant,,ENST00000443958,;SMPD4,intron_variant,,ENST00000426662,;SMPD4,upstream_gene_variant,,ENST00000430682,;SMPD4,downstream_gene_variant,,ENST00000441135,;SMPD4,upstream_gene_variant,,ENST00000451542,;SMPD4,intron_variant,,ENST00000473720,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000412570,;SMPD4,intron_variant,,ENST00000433118,;SMPD4,intron_variant,,ENST00000439029,;SMPD4,upstream_gene_variant,,ENST00000435455,;	1724	173	144	SUCCESS
GALNT5	11227	.	GRCh37	2	158167786	158167786	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	57	0	ENST00000259056.4:c.2749A>T	p.Ile917Phe	p.I917F	ENST00000259056	NM_014568.1	917	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS2203.1	2749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGATCCTG	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000259056	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000259056	Transcript	.	.	ENSG00000136542	4127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.08)	.	GALT5_HUMAN	GALNT5	HGNC	Q68VJ5_HUMAN	.	UPI000019AD19	SNV	GALNT5,missense_variant,p.Ile917Phe,ENST00000259056,;	3234	57	43	SUCCESS
PLA2R1	22925	.	GRCh37	2	160807990	160807990	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749389715	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	124	543	0	ENST00000283243.7:c.3401C>A	p.Thr1134Asn	p.T1134N	ENST00000283243	NM_001195641.1	1134	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS33309.1	3401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGTCATA	NONE	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	24/30	.	.	.	.	.	.	.	.	rs749389715	24/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.02)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Thr1134Asn,ENST00000283243,;PLA2R1,missense_variant,p.Thr1134Asn,ENST00000392771,;	3608	543	402	SUCCESS
MARS2	92935	.	GRCh37	2	198570098	198570098	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs765894315	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	28	0	ENST00000282276.6:c.-32G>A		p.*11*	ENST00000282276	NM_138395.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33358.1	.	MUTECT|MUSE|VARSCANS	.	AGAACGCCGCC	NONE	byFrequency	.	.	.	.	ENSP00000282276	.	1/1	.	.	.	.	.	.	.	.	rs765894315	1/1	PASS	ENST00000282276	Transcript	.	.	ENSG00000247626	25133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYMM_HUMAN	MARS2	HGNC	.	.	UPI00000492CE	SNV	MARS2,5_prime_UTR_variant,,ENST00000282276,;AC011997.1,intron_variant,,ENST00000409845,;	12	28	29	SUCCESS
TRAF3IP1	26146	.	GRCh37	2	239237694	239237694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	29	195	0	ENST00000373327.4:c.626G>T	p.Gly209Val	p.G209V	ENST00000373327	NM_015650.3	209	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33415.1	626	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGAAACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31363:SF0,hmmpanther:PTHR31363,Pfam_domain:PF10243	.	.	ENSP00000362424	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000373327	Transcript	.	.	ENSG00000204104	17861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	tolerated(0.1)	.	MIPT3_HUMAN	TRAF3IP1	HGNC	.	.	UPI0000070E5D	SNV	TRAF3IP1,missense_variant,p.Gly209Val,ENST00000373327,;TRAF3IP1,missense_variant,p.Gly209Val,ENST00000391994,;TRAF3IP1,missense_variant,p.Gly209Val,ENST00000391993,;TRAF3IP1,3_prime_UTR_variant,,ENST00000409739,;	848	195	179	SUCCESS
XDH	7498	.	GRCh37	2	31624141	31624141	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	91	1	ENST00000379416.3:c.251C>T	p.Ala84Val	p.A84V	ENST00000379416	NM_000379.3	84	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1775.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGCAACA	NONE	.	.	Superfamily_domains:SSF54292,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,Gene3D:3.10.20.30,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908,PROSITE_profiles:PS51085	.	.	ENSP00000368727	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000379416	Transcript	.	.	ENSG00000158125	12805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,missense_variant,p.Ala84Val,ENST00000379416,;	300	92	85	SUCCESS
SUCLG1	8802	.	GRCh37	2	84686477	84686477	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	9	166	0	ENST00000393868.2:c.-84T>G		p.*28*	ENST00000393868	NM_003849.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1967.2	.	MUTECT|MUSE	.	GCCTGAACAAA	NONE	.	.	.	.	.	ENSP00000377446	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000393868	Transcript	.	.	ENSG00000163541	11449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUCA_HUMAN	SUCLG1	HGNC	Q6IAL5_HUMAN	.	UPI000014BF59	SNV	SUCLG1,5_prime_UTR_variant,,ENST00000393868,;SUCLG1,intron_variant,,ENST00000491642,;SUCLG1,upstream_gene_variant,,ENST00000430989,;SUCLG1,upstream_gene_variant,,ENST00000483605,;SUCLG1,upstream_gene_variant,,ENST00000442240,;	128	166	111	SUCCESS
FAHD2A	51011	.	GRCh37	2	96072737	96072737	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	304	48	499	1	ENST00000233379.4:c.294C>A	p.Phe98Leu	p.F98L	ENST00000233379	NM_016044.2	98	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS2014.1	294	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCCTGGC	NONE	.	.	hmmpanther:PTHR11820:SF74,hmmpanther:PTHR11820,Gene3D:3.90.850.10,Superfamily_domains:SSF56529	.	.	ENSP00000233379	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000233379	Transcript	.	.	ENSG00000115042	24252	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	FAH2A_HUMAN	FAHD2A	HGNC	C9JGM0_HUMAN,C9J5B6_HUMAN	.	UPI000006D4CC	SNV	FAHD2A,missense_variant,p.Phe98Leu,ENST00000418606,;FAHD2A,missense_variant,p.Phe98Leu,ENST00000233379,;FAHD2A,missense_variant,p.Phe98Leu,ENST00000447036,;FAHD2A,downstream_gene_variant,,ENST00000445649,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000463940,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000470100,;	447	500	352	SUCCESS
IMPG2	50939	.	GRCh37	3	100972618	100972618	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	71	1	ENST00000193391.7:c.1161A>T	p.Gly387=	p.G387=	ENST00000193391	NM_016247.3	387	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2940.1	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTCCTCT	NONE	.	.	hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199	.	.	ENSP00000193391	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000193391	Transcript	.	.	ENSG00000081148	18362	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMPG2_HUMAN	IMPG2	HGNC	F1T0J3_HUMAN	.	UPI000013C605	SNV	IMPG2,synonymous_variant,p.%3D,ENST00000193391,;	1349	72	54	SUCCESS
FBXO40	51725	.	GRCh37	3	121341432	121341432	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	111	0	ENST00000338040.4:c.1156A>T	p.Thr386Ser	p.T386S	ENST00000338040	NM_016298.3	386	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS33835.1	1156	MUTECT|MUSE|VARSCANS	.	GGATCACTGTG	NONE	.	.	hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1	.	.	ENSP00000337510	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338040	Transcript	.	.	ENSG00000163833	29816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.9)	.	FBX40_HUMAN	FBXO40	HGNC	.	.	UPI000020A046	SNV	FBXO40,missense_variant,p.Thr386Ser,ENST00000338040,;	1570	112	81	SUCCESS
COL6A6	131873	.	GRCh37	3	130368255	130368255	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766274394	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	95	0	ENST00000358511.6:c.5582C>A	p.Ala1861Glu	p.A1861E	ENST00000358511	NM_001102608.1	1861	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS46911.1	5582	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCACACA	NONE	byFrequency	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	32/36	.	.	.	.	.	.	.	.	rs766274394	32/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.257)	.	deleterious(0.02)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Ala1861Glu,ENST00000453409,;COL6A6,missense_variant,p.Ala1861Glu,ENST00000358511,;COL6A6,intron_variant,,ENST00000506143,;	5613	96	110	SUCCESS
MRPS22	56945	.	GRCh37	3	139062905	139062905	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748148830	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	41	0	ENST00000310776.4:c.37C>T	p.Leu13Phe	p.L13F	ENST00000310776	NM_020191.2	13	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS3107.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCTCTTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13071:SF4,hmmpanther:PTHR13071	.	.	ENSP00000418008	.	3/10	.	.	.	.	.	.	.	.	rs748148830	3/10	PASS	ENST00000495075	Transcript	.	.	ENSG00000175110	14508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.51)	.	RT22_HUMAN	MRPS22	HGNC	Q96Q16_HUMAN	.	UPI0000042222	SNV	MRPS22,missense_variant,p.Leu13Phe,ENST00000495075,;MRPS22,missense_variant,p.Leu13Phe,ENST00000465056,;MRPS22,missense_variant,p.Leu13Phe,ENST00000310776,;MRPS22,missense_variant,p.Leu9Phe,ENST00000465373,;MRPS22,intron_variant,,ENST00000495225,;MRPS22,upstream_gene_variant,,ENST00000478464,;MRPS22,upstream_gene_variant,,ENST00000480644,;RP11-219D15.3,downstream_gene_variant,,ENST00000608472,;MRPS22,downstream_gene_variant,,ENST00000489521,;MRPS22,missense_variant,p.Leu9Phe,ENST00000466690,;MRPS22,missense_variant,p.Leu13Phe,ENST00000498505,;MRPS22,non_coding_transcript_exon_variant,,ENST00000480938,;MRPS22,upstream_gene_variant,,ENST00000486705,;MRPS22,upstream_gene_variant,,ENST00000483545,;	469	41	46	SUCCESS
PLS1	5357	.	GRCh37	3	142388293	142388293	+	synonymous_variant	Silent	SNP	C	C	T	rs753381485	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	97	0	ENST00000337777.3:c.132C>T	p.Ser44=	p.S44=	ENST00000337777	NM_002670.2	44	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3125.1	132	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGCCTTCC	NONE	byFrequency	.	PROSITE_profiles:PS50222,hmmpanther:PTHR19961:SF27,hmmpanther:PTHR19961,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000336831	.	3/16	.	.	.	.	.	.	.	.	rs753381485	3/16	PASS	ENST00000337777	Transcript	.	.	ENSG00000120756	9090	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLSI_HUMAN	PLS1	HGNC	C9JYI1_HUMAN,C9JVY2_HUMAN,C9JU08_HUMAN,C9JAM8_HUMAN,C9JAM3_HUMAN,C9J359_HUMAN,C9J0F3_HUMAN	.	UPI000013D59A	SNV	PLS1,synonymous_variant,p.%3D,ENST00000475296,;PLS1,synonymous_variant,p.%3D,ENST00000461644,;PLS1,synonymous_variant,p.%3D,ENST00000337777,;PLS1,synonymous_variant,p.%3D,ENST00000457734,;PLS1,synonymous_variant,p.%3D,ENST00000464320,;PLS1,synonymous_variant,p.%3D,ENST00000497002,;PLS1,synonymous_variant,p.%3D,ENST00000497199,;PLS1,synonymous_variant,p.%3D,ENST00000495744,;PLS1,5_prime_UTR_variant,,ENST00000476044,;PLS1,downstream_gene_variant,,ENST00000483373,;RN7SKP25,upstream_gene_variant,,ENST00000362449,;PLS1,non_coding_transcript_exon_variant,,ENST00000460104,;	345	97	69	SUCCESS
CCDC39	339829	.	GRCh37	3	180332768	180332768	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	127	1	ENST00000442201.2:c.2767A>G	p.Arg923Gly	p.R923G	ENST00000442201	NM_181426.1	923	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46964.1	2767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTAGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.12)	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,missense_variant,p.Arg923Gly,ENST00000442201,;CCDC39,3_prime_UTR_variant,,ENST00000273654,;TTC14,intron_variant,,ENST00000382584,;CCDC39,intron_variant,,ENST00000489868,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000296015,;TTC14,downstream_gene_variant,,ENST00000412756,;TTC14,downstream_gene_variant,,ENST00000487397,;TTC14,downstream_gene_variant,,ENST00000465625,;CCDC39,3_prime_UTR_variant,,ENST00000476379,;TTC14,downstream_gene_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000470669,;	2887	128	90	SUCCESS
EIF4G1	1981	.	GRCh37	3	184039489	184039489	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs777162450	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	19	140	0	ENST00000346169.2:c.1117G>T	p.Glu373Ter	p.E373*	ENST00000346169	NM_198241.2	373	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54687.1	1138	RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGAGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10	.	.	ENSP00000416255	.	9/32	.	.	.	.	.	.	.	.	rs777162450,COSM3940423	9/32	PASS	ENST00000424196	Transcript	.	.	ENSG00000114867	3296	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	IF4G1_HUMAN	EIF4G1	HGNC	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN	.	UPI00015E0966	SNV	EIF4G1,stop_gained,p.Glu333Ter,ENST00000411531,;EIF4G1,stop_gained,p.Glu286Ter,ENST00000392537,;EIF4G1,stop_gained,p.Glu373Ter,ENST00000346169,;EIF4G1,stop_gained,p.Glu373Ter,ENST00000319274,;EIF4G1,stop_gained,p.Glu373Ter,ENST00000450424,;EIF4G1,stop_gained,p.Glu333Ter,ENST00000414031,;EIF4G1,stop_gained,p.Glu380Ter,ENST00000352767,;EIF4G1,stop_gained,p.Glu380Ter,ENST00000424196,;EIF4G1,stop_gained,p.Glu177Ter,ENST00000434061,;EIF4G1,stop_gained,p.Glu209Ter,ENST00000444861,;EIF4G1,stop_gained,p.Glu286Ter,ENST00000427845,;EIF4G1,stop_gained,p.Glu380Ter,ENST00000382330,;EIF4G1,stop_gained,p.Glu314Ter,ENST00000426123,;EIF4G1,stop_gained,p.Glu177Ter,ENST00000457456,;EIF4G1,stop_gained,p.Glu177Ter,ENST00000435046,;EIF4G1,stop_gained,p.Glu209Ter,ENST00000350481,;EIF4G1,stop_gained,p.Glu209Ter,ENST00000441154,;EIF4G1,stop_gained,p.Glu373Ter,ENST00000342981,;EIF4G1,stop_gained,p.Glu380Ter,ENST00000421110,;EIF2B5,intron_variant,,ENST00000444495,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,downstream_gene_variant,,ENST00000455679,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000428387,;EIF4G1,downstream_gene_variant,,ENST00000427141,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,downstream_gene_variant,,ENST00000493299,;EIF4G1,upstream_gene_variant,,ENST00000466311,;	1527	140	114	SUCCESS
SEMA3F	6405	.	GRCh37	3	50220186	50220186	+	synonymous_variant	Silent	SNP	G	G	T	rs775371473	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	44	0	ENST00000002829.3:c.873G>T	p.Ala291=	p.A291=	ENST00000002829	NM_004186.3	291	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2811.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGGTGTA	NONE	byFrequency	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF27,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000002829	.	9/19	.	.	.	.	.	.	.	.	rs775371473	9/19	PASS	ENST00000002829	Transcript	.	.	ENSG00000001617	10728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3F_HUMAN	SEMA3F	HGNC	.	.	UPI0000135A69	SNV	SEMA3F,synonymous_variant,p.%3D,ENST00000413852,;SEMA3F,synonymous_variant,p.%3D,ENST00000414301,;SEMA3F,synonymous_variant,p.%3D,ENST00000434342,;SEMA3F,synonymous_variant,p.%3D,ENST00000002829,;SEMA3F,synonymous_variant,p.%3D,ENST00000450338,;SEMA3F,non_coding_transcript_exon_variant,,ENST00000493743,;SEMA3F,upstream_gene_variant,,ENST00000470737,;	1357	44	23	SUCCESS
BAP1	8314	.	GRCh37	3	52436687	52436688	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	68	56	175	0	ENST00000460680.1:c.1986dup	p.Asp663Ter	p.D663*	ENST00000460680	NM_004656.3	662	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS2853.1	1986-1987	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCATCAATCT	BUFFER|p.?|c.1984-1G>T|4	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	insertion	BAP1,frameshift_variant,p.Asp63Ter,ENST00000469613,;BAP1,frameshift_variant,p.Asp187Ter,ENST00000478368,;BAP1,frameshift_variant,p.Asp645Ter,ENST00000296288,;BAP1,frameshift_variant,p.Asp663Ter,ENST00000460680,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	2458-2459	175	124	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64145681	64145681	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763649839	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	34	198	0	ENST00000295902.6:c.331G>A	p.Glu111Lys	p.E111K	ENST00000295902	NM_198859.3	111	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2902.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCGCGTT	NONE	byFrequency	.	PROSITE_profiles:PS51303,hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218,Pfam_domain:PF06297	.	.	ENSP00000295902	.	4/8	.	.	.	.	.	.	.	.	rs763649839	4/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0)	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,missense_variant,p.Glu111Lys,ENST00000295902,;PRICKLE2,missense_variant,p.Glu111Lys,ENST00000498162,;PRICKLE2,missense_variant,p.Glu167Lys,ENST00000564377,;	917	198	131	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121364	135121364	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs779118612	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	91	0	ENST00000421491.3:c.811C>T	p.Arg271Ter	p.R271*	ENST00000421491		271	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	.	985	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGCTCGA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	rs779118612	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,stop_gained,p.Arg271Ter,ENST00000421491,;PABPC4L,stop_gained,p.Arg329Ter,ENST00000529122,;	1068	91	40	SUCCESS
ATP8A1	10396	.	GRCh37	4	42580401	42580401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	11	107	0	ENST00000381668.5:c.1004G>A	p.Gly335Asp	p.G335D	ENST00000381668	NM_006095.2	335	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS3466.1	1004	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCACCATCT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049473	.	.	ENSP00000371084	.	12/37	.	.	.	.	.	.	.	.	.	12/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.724)	.	tolerated(0.68)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Gly335Asp,ENST00000381668,;ATP8A1,missense_variant,p.Gly335Asp,ENST00000264449,;ATP8A1,downstream_gene_variant,,ENST00000504510,;ATP8A1,downstream_gene_variant,,ENST00000504024,;	1236	107	82	SUCCESS
CRMP1	1400	.	GRCh37	4	5837733	5837733	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	130	0	ENST00000397890.2:c.1190G>A	p.Arg397Lys	p.R397K	ENST00000397890	NM_001313.3	397	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS33950.1	1532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCTTGGG	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:2.30.40.10,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51338,Superfamily_domains:SSF51556	.	.	ENSP00000321606	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	tolerated(0.12)	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	SNV	CRMP1,missense_variant,p.Arg395Lys,ENST00000512574,;CRMP1,missense_variant,p.Arg511Lys,ENST00000324989,;CRMP1,missense_variant,p.Arg397Lys,ENST00000397890,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	1621	130	88	SUCCESS
PDE6B	5158	.	GRCh37	4	651215	651215	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1424672145	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	28	155	0	ENST00000496514.1:c.1333A>G	p.Lys445Glu	p.K445E	ENST00000496514		445	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS33932.1	1333	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCAAGGAC	NONE	.	.	Superfamily_domains:SSF55781,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	.	.	ENSP00000420295	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	deleterious(0.01)	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.Lys166Glu,ENST00000429163,;PDE6B,missense_variant,p.Lys445Glu,ENST00000496514,;PDE6B,missense_variant,p.Lys445Glu,ENST00000255622,;PDE6B,downstream_gene_variant,,ENST00000488061,;PDE6B,downstream_gene_variant,,ENST00000487902,;PDE6B,downstream_gene_variant,,ENST00000465426,;RP11-1191J2.2,upstream_gene_variant,,ENST00000489312,;RP11-1191J2.2,upstream_gene_variant,,ENST00000599030,;RP11-1191J2.2,upstream_gene_variant,,ENST00000468356,;RP11-1191J2.5,downstream_gene_variant,,ENST00000609172,;RP11-1191J2.2,upstream_gene_variant,,ENST00000598370,;PDE6B,downstream_gene_variant,,ENST00000474251,;PDE6B,downstream_gene_variant,,ENST00000476034,;PDE6B,downstream_gene_variant,,ENST00000467152,;	1354	155	166	SUCCESS
BLOC1S4	55330	.	GRCh37	4	6718242	6718242	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	10	0	ENST00000320776.3:c.306G>T	p.Met102Ile	p.M102I	ENST00000320776	NM_018366.2	102	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS3393.1	306	MUTECT|MUSE	.	GGCATGCTGGA	NONE	.	.	hmmpanther:PTHR16230:SF4,hmmpanther:PTHR16230	.	.	ENSP00000318128	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320776	Transcript	.	.	ENSG00000186222	24206	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.854)	.	deleterious(0.04)	.	BL1S4_HUMAN	BLOC1S4	HGNC	.	.	UPI0000073D20	SNV	BLOC1S4,missense_variant,p.Met102Ile,ENST00000320776,;	401	10	12	SUCCESS
TMEM173	0	.	GRCh37	5	138855859	138855859	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370381358	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	94	0	ENST00000330794.4:c.1127C>A	p.Thr376Lys	p.T376K	ENST00000330794	NM_198282.2	376	aCg/aAg	0	A:0.0002	.	.	.	.	T	T/K	protein_coding	YES	CCDS4215.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGTGCGG	NONE	.	.	.	.	A:0	ENSP00000331288	.	8/8	.	.	.	.	.	.	.	.	rs370381358	8/8	PASS	ENST00000330794	Transcript	.	.	ENSG00000184584	27962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0)	.	STING_HUMAN	TMEM173	HGNC	J3QTB1_HUMAN	.	UPI000000DC5E	SNV	TMEM173,missense_variant,p.Thr376Lys,ENST00000330794,;AC138517.1,downstream_gene_variant,,ENST00000593907,;TMEM173,downstream_gene_variant,,ENST00000510817,;TMEM173,downstream_gene_variant,,ENST00000512606,;TMEM173,downstream_gene_variant,,ENST00000511886,;TMEM173,downstream_gene_variant,,ENST00000515507,;TMEM173,downstream_gene_variant,,ENST00000511850,;TMEM173,non_coding_transcript_exon_variant,,ENST00000509573,;TMEM173,non_coding_transcript_exon_variant,,ENST00000507297,;TMEM173,downstream_gene_variant,,ENST00000503838,;TMEM173,downstream_gene_variant,,ENST00000514119,;TMEM173,downstream_gene_variant,,ENST00000502825,;TMEM173,downstream_gene_variant,,ENST00000502362,;TMEM173,downstream_gene_variant,,ENST00000503287,;	1461	94	59	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237874	140237874	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	260	0	ENST00000307360.5:c.2241T>C	p.Ser747=	p.S747=	ENST00000307360	NM_018901.2	747	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS54921.1	2241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCTTACTC	NONE	.	.	hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	2241	260	115	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140746244	140746244	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781103707	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	134	0	ENST00000518069.1:c.2347G>A	p.Glu783Lys	p.E783K	ENST00000518069	NM_018918.2	783	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54925.1	2347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGAGAGC	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	rs781103707	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious_low_confidence(0)	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,missense_variant,p.Glu783Lys,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGB3,upstream_gene_variant,,ENST00000576222,;	2347	134	62	SUCCESS
FAM134B	0	.	GRCh37	5	16474884	16474884	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	50	125	0	ENST00000306320.9:c.1460C>T	p.Ser487Leu	p.S487L	ENST00000306320	NM_001034850.2	487	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43304.1	1460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTGAAGAC	NONE	.	.	.	.	.	ENSP00000304642	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000306320	Transcript	1	.	ENSG00000154153	25964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	deleterious(0)	.	F134B_HUMAN	FAM134B	HGNC	.	.	UPI000006D7DB	SNV	FAM134B,missense_variant,p.Ser346Leu,ENST00000399793,;FAM134B,missense_variant,p.Ser487Leu,ENST00000306320,;FAM134B,downstream_gene_variant,,ENST00000509977,;FAM134B,missense_variant,p.Ser207Leu,ENST00000510362,;	1547	125	108	SUCCESS
C5orf22	55322	.	GRCh37	5	31534433	31534433	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	55	486	0	ENST00000325366.9:c.136G>C	p.Val46Leu	p.V46L	ENST00000325366	NM_018356.2	46	Gta/Cta	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS3895.1	136	RADIA|MUTECT|MUSE|VARSCANS	.	GTAATGTAAGT	NONE	.	.	hmmpanther:PTHR13225:SF2,hmmpanther:PTHR13225,Pfam_domain:PF12640	.	.	ENSP00000326879	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000325366	Transcript	.	.	ENSG00000082213	25639	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.25)	.	CE022_HUMAN	C5orf22	HGNC	.	.	UPI000006FDD5	SNV	C5orf22,missense_variant,p.Val46Leu,ENST00000325366,;C5orf22,missense_variant,p.Val46Leu,ENST00000507818,;C5orf22,5_prime_UTR_variant,,ENST00000355907,;DROSHA,upstream_gene_variant,,ENST00000511367,;DROSHA,upstream_gene_variant,,ENST00000513349,;DROSHA,upstream_gene_variant,,ENST00000507438,;C5orf22,splice_donor_variant,,ENST00000517780,;DROSHA,upstream_gene_variant,,ENST00000504361,;C5orf22,splice_donor_variant,,ENST00000511208,;C5orf22,missense_variant,p.Val46Leu,ENST00000513967,;C5orf22,missense_variant,p.Val46Leu,ENST00000504464,;C5orf22,missense_variant,p.Val46Leu,ENST00000510659,;C5orf22,non_coding_transcript_exon_variant,,ENST00000515409,;C5orf22,upstream_gene_variant,,ENST00000510530,;	263	486	293	SUCCESS
MROH2B	133558	.	GRCh37	5	41055918	41055918	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	130	0	ENST00000399564.4:c.959A>C	p.Glu320Ala	p.E320A	ENST00000399564	NM_173489.4	320	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS47202.1	959	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTCATCA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000382476	.	10/42	.	.	.	.	.	.	.	.	.	10/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.854)	.	tolerated(0.14)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Glu320Ala,ENST00000399564,;MROH2B,intron_variant,,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;MROH2B,upstream_gene_variant,,ENST00000503890,;	1410	130	100	SUCCESS
PLCXD3	345557	.	GRCh37	5	41510687	41510687	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	33	0	ENST00000328457.3:c.-59C>T		p.*20*	ENST00000328457	NM_001005473.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34150.1	.	MUTECT|MUSE	.	AGGCTGCTGCC	NONE	.	.	.	.	.	ENSP00000367032	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000377801	Transcript	.	.	ENSG00000182836	31822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCX3_HUMAN	PLCXD3	HGNC	B3KXD1_HUMAN	.	UPI0000049DBB	SNV	PLCXD3,5_prime_UTR_variant,,ENST00000328457,;PLCXD3,5_prime_UTR_variant,,ENST00000377801,;	17	33	35	SUCCESS
C2	717	.	GRCh37	6	31901476	31901476	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	57	0	ENST00000299367.5:c.532T>C	p.Ser178Pro	p.S178P	ENST00000299367	NM_000063.4	178	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	.	346	RADIA|VARSCANS	.	GCTGCTCCTCG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,SMART_domains:SM00327,Superfamily_domains:SSF57535	.	.	ENSP00000410815	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.15)	.	tolerated(0.12)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Ser116Pro,ENST00000456570,;C2,missense_variant,p.Ser46Pro,ENST00000442278,;CFB,missense_variant,p.Ser116Pro,ENST00000556679,;C2,missense_variant,p.Ser178Pro,ENST00000299367,;C2,missense_variant,p.Ser37Pro,ENST00000494905,;C2,missense_variant,p.Ser55Pro,ENST00000452202,;C2,missense_variant,p.Ser55Pro,ENST00000452323,;C2,missense_variant,p.Ser43Pro,ENST00000383177,;C2,missense_variant,p.Ser116Pro,ENST00000447952,;C2,missense_variant,p.Ser178Pro,ENST00000418949,;C2,synonymous_variant,p.%3D,ENST00000469372,;C2,synonymous_variant,p.%3D,ENST00000497706,;CFB,intron_variant,,ENST00000477310,;C2,downstream_gene_variant,,ENST00000413154,;C2,synonymous_variant,p.%3D,ENST00000484636,;C2,synonymous_variant,p.%3D,ENST00000411571,;C2,3_prime_UTR_variant,,ENST00000482060,;C2,upstream_gene_variant,,ENST00000486124,;C2,upstream_gene_variant,,ENST00000485690,;	401	57	34	SUCCESS
GLO1	2739	.	GRCh37	6	38670784	38670784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	53	0	ENST00000373365.4:c.47C>T	p.Ala16Val	p.A16V	ENST00000373365	NM_006708.2	16	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4837.1	47	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGCGGCC	NONE	.	.	hmmpanther:PTHR10374:SF2,hmmpanther:PTHR10374,Gene3D:3.10.180.10	.	.	ENSP00000362463	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373365	Transcript	.	.	ENSG00000124767	4323	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	tolerated(0.36)	.	LGUL_HUMAN	GLO1	HGNC	.	.	UPI0000169DF9	SNV	GLO1,missense_variant,p.Ala16Val,ENST00000373365,;	134	53	42	SUCCESS
FBXO9	26268	.	GRCh37	6	52957296	52957296	+	synonymous_variant	Silent	SNP	C	C	T	rs776871324	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	42	361	1	ENST00000244426.6:c.753C>T	p.Tyr251=	p.Y251=	ENST00000244426	NM_012347.4	251	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS55023.1	753	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTACACGTC	NONE	byFrequency	.	hmmpanther:PTHR12874:SF9,hmmpanther:PTHR12874,Superfamily_domains:SSF81383	.	.	ENSP00000244426	.	7/12	.	.	.	.	.	.	.	.	rs776871324	7/12	PASS	ENST00000244426	Transcript	.	.	ENSG00000112146	13588	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBX9_HUMAN	FBXO9	HGNC	C9JDZ9_HUMAN,C9J4V1_HUMAN,C9IY65_HUMAN	.	UPI000012A589	SNV	FBXO9,synonymous_variant,p.%3D,ENST00000370939,;FBXO9,synonymous_variant,p.%3D,ENST00000244426,;FBXO9,synonymous_variant,p.%3D,ENST00000323557,;FBXO9,upstream_gene_variant,,ENST00000473318,;FBXO9,upstream_gene_variant,,ENST00000484436,;RN7SL244P,downstream_gene_variant,,ENST00000493405,;FBXO9,non_coding_transcript_exon_variant,,ENST00000480463,;FBXO9,non_coding_transcript_exon_variant,,ENST00000474457,;FBXO9,non_coding_transcript_exon_variant,,ENST00000484812,;	925	362	221	SUCCESS
FLNC	2318	.	GRCh37	7	128489494	128489494	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	85	0	ENST00000325888.8:c.5061G>A	p.Gly1687=	p.G1687=	ENST00000325888	NM_001458.4	1687	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43644.1	5061	RADIA|MUSE|VARSCANS	.	GATGGGGCAGA	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	30/48	.	.	.	.	.	.	.	.	.	30/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;	5322	85	67	SUCCESS
CNOT4	4850	.	GRCh37	7	135107050	135107050	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	29	248	0	ENST00000315544.5:c.227A>G	p.Gln76Arg	p.Q76R	ENST00000315544	NM_001190848.1	76	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS55165.1	227	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2,Gene3D:3.30.40.10	.	.	ENSP00000445508	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.078)	.	tolerated(0.06)	.	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	SNV	CNOT4,missense_variant,p.Gln76Arg,ENST00000356162,;CNOT4,missense_variant,p.Gln76Arg,ENST00000541284,;CNOT4,missense_variant,p.Gln76Arg,ENST00000451834,;CNOT4,missense_variant,p.Gln76Arg,ENST00000414802,;CNOT4,missense_variant,p.Gln76Arg,ENST00000423368,;CNOT4,missense_variant,p.Gln76Arg,ENST00000361528,;CNOT4,missense_variant,p.Gln76Arg,ENST00000315544,;CNOT4,missense_variant,p.Gln76Arg,ENST00000428680,;CNOT4,non_coding_transcript_exon_variant,,ENST00000491203,;CNOT4,non_coding_transcript_exon_variant,,ENST00000498534,;CNOT4,downstream_gene_variant,,ENST00000465721,;	558	248	182	SUCCESS
GSTK1	373156	.	GRCh37	7	142964755	142964755	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754185509	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	89	0	ENST00000358406.5:c.466C>A	p.Leu156Met	p.L156M	ENST00000358406	NM_015917.2	156	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS47730.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTGGAA	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF01323,hmmpanther:PTHR13887	.	.	ENSP00000431049	.	5/7	.	.	.	.	.	.	.	.	rs754185509	5/7	PASS	ENST00000479303	Transcript	.	.	ENSG00000197448	16906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	GSTK1_HUMAN	GSTK1	HGNC	.	.	UPI000022839D	SNV	GSTK1,missense_variant,p.Leu144Met,ENST00000409500,;GSTK1,missense_variant,p.Leu113Met,ENST00000443571,;GSTK1,missense_variant,p.Leu212Met,ENST00000479303,;GSTK1,missense_variant,p.Leu156Met,ENST00000358406,;GSTK1,downstream_gene_variant,,ENST00000436038,;AC073342.12,intron_variant,,ENST00000427392,;GSTK1,downstream_gene_variant,,ENST00000494735,;GSTK1,missense_variant,p.Leu156Met,ENST00000442394,;GSTK1,non_coding_transcript_exon_variant,,ENST00000473649,;GSTK1,downstream_gene_variant,,ENST00000489654,;	692	89	91	SUCCESS
HOXA4	3201	.	GRCh37	7	27168891	27168891	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	240	52	271	0	ENST00000360046.5:c.916C>T	p.Pro306Ser	p.P306S	ENST00000360046	NM_002141.4	306	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS5405.1	916	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGATGGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000353151	.	2/2	.	.	.	.	.	.	.	.	COSM370591	2/2	PASS	ENST00000360046	Transcript	.	.	ENSG00000197576	5105	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	tolerated_low_confidence(0.09)	1	HXA4_HUMAN	HOXA4	HGNC	.	.	UPI000013C810	SNV	HOXA4,missense_variant,p.Pro306Ser,ENST00000360046,;HOXA4,missense_variant,p.Pro126Ser,ENST00000511914,;HOXA4,missense_variant,p.Pro306Ser,ENST00000428284,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,intron_variant,,ENST00000521779,;HOXA3,upstream_gene_variant,,ENST00000317201,;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;RP1-170O19.22,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;	982	271	292	SUCCESS
HOXA4	3201	.	GRCh37	7	27168892	27168892	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	52	257	0	ENST00000360046.5:c.915T>A	p.His305Gln	p.H305Q	ENST00000360046	NM_002141.4	305	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS5405.1	915	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGATGGAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000353151	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360046	Transcript	.	.	ENSG00000197576	5105	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.17)	.	HXA4_HUMAN	HOXA4	HGNC	.	.	UPI000013C810	SNV	HOXA4,missense_variant,p.His305Gln,ENST00000360046,;HOXA4,missense_variant,p.His125Gln,ENST00000511914,;HOXA4,missense_variant,p.His305Gln,ENST00000428284,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,intron_variant,,ENST00000521779,;HOXA3,upstream_gene_variant,,ENST00000317201,;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;RP1-170O19.22,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;	981	257	290	SUCCESS
SEMA3D	223117	.	GRCh37	7	84666319	84666319	+	synonymous_variant	Silent	SNP	C	C	G	rs143217112	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	105	0	ENST00000284136.6:c.1077G>C	p.Val359=	p.V359=	ENST00000284136	NM_152754.2	359	gtG/gtC	0	T:0.0005	.	.	.	.	G	V	protein_coding	YES	CCDS34676.1	1077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATACACACA	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	T:0	ENSP00000284136	.	10/17	.	.	.	.	.	.	.	.	rs143217112	10/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,synonymous_variant,p.%3D,ENST00000284136,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;SEMA3D,downstream_gene_variant,,ENST00000463315,;	1121	105	61	SUCCESS
ZSCAN25	221785	.	GRCh37	7	99227217	99227217	+	synonymous_variant	Silent	SNP	C	C	T	rs746704278	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	66	0	ENST00000334715.3:c.1209C>T	p.Tyr403=	p.Y403=	ENST00000334715		403	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS5671.2	1209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTACGTGTG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF1,hmmpanther:PTHR23226,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000377708	.	8/8	.	.	.	.	.	.	.	.	rs746704278	8/8	PASS	ENST00000394152	Transcript	.	.	ENSG00000197037	21961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSC25_HUMAN	ZSCAN25	HGNC	C9K079_HUMAN,B3KPY4_HUMAN	.	UPI000050D3F2	SNV	ZSCAN25,synonymous_variant,p.%3D,ENST00000334715,;ZSCAN25,synonymous_variant,p.%3D,ENST00000262941,;ZSCAN25,synonymous_variant,p.%3D,ENST00000394152,;ZSCAN25,intron_variant,,ENST00000466948,;ZSCAN25,downstream_gene_variant,,ENST00000493443,;ZSCAN25,3_prime_UTR_variant,,ENST00000394150,;ZSCAN25,non_coding_transcript_exon_variant,,ENST00000485586,;ZSCAN25,non_coding_transcript_exon_variant,,ENST00000481424,;	1536	66	38	SUCCESS
STAG3	10734	.	GRCh37	7	99800188	99800188	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	65	0	ENST00000317296.5:c.2675C>A	p.Ser892Ter	p.S892*	ENST00000317296	NM_012447.2	892	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS34703.1	2675	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCAGATG	NONE	.	.	hmmpanther:PTHR11199:SF4,hmmpanther:PTHR11199	.	.	ENSP00000400359	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000426455	Transcript	.	.	ENSG00000066923	11356	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAG3_HUMAN	STAG3	HGNC	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN	.	UPI000020F6E0	SNV	STAG3,stop_gained,p.Ser892Ter,ENST00000426455,;STAG3,stop_gained,p.Ser834Ter,ENST00000394018,;STAG3,stop_gained,p.Ser892Ter,ENST00000317296,;GATS,3_prime_UTR_variant,,ENST00000436886,;STAG3,upstream_gene_variant,,ENST00000412190,;GATS,non_coding_transcript_exon_variant,,ENST00000414997,;GATS,non_coding_transcript_exon_variant,,ENST00000454084,;GATS,non_coding_transcript_exon_variant,,ENST00000543273,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;GATS,non_coding_transcript_exon_variant,,ENST00000437485,;GATS,non_coding_transcript_exon_variant,,ENST00000440058,;STAG3,intron_variant,,ENST00000496157,;STAG3,downstream_gene_variant,,ENST00000476057,;STAG3,downstream_gene_variant,,ENST00000477469,;STAG3,upstream_gene_variant,,ENST00000451963,;STAG3,downstream_gene_variant,,ENST00000479359,;	3082	65	40	SUCCESS
FOXH1	8928	.	GRCh37	8	145700607	145700607	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150426097	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	47	0	ENST00000377317.4:c.212G>T	p.Arg71Met	p.R71M	ENST00000377317	NM_003923.2	71	aGg/aTg	0	T:0.0007	T:0.0008	.	T:0	.	A	R/M	protein_coding	YES	CCDS6428.1	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCTGAAG	NONE	byCluster|by1000G	.	Prints_domain:PR00053,Superfamily_domains:SSF46785,SMART_domains:SM00339,Gene3D:1.10.10.10,Pfam_domain:PF00250,hmmpanther:PTHR11829:SF122,hmmpanther:PTHR11829,PROSITE_profiles:PS50039	T:0	T:0	ENSP00000366534	T:0	2/3	.	.	.	.	.	.	.	.	rs150426097	2/3	PASS	ENST00000377317	Transcript	1	T:0.0002	ENSG00000160973	3814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	T:0	deleterious(0)	.	FOXH1_HUMAN	FOXH1	HGNC	.	.	UPI0000053417	SNV	FOXH1,missense_variant,p.Arg71Met,ENST00000377317,;KIFC2,downstream_gene_variant,,ENST00000301331,;KIFC2,downstream_gene_variant,,ENST00000301332,;FOXH1,splice_acceptor_variant,,ENST00000525197,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;KIFC2,downstream_gene_variant,,ENST00000531423,;PPP1R16A,upstream_gene_variant,,ENST00000533088,;KIFC2,downstream_gene_variant,,ENST00000531425,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;	791	47	45	SUCCESS
CYP7A1	1581	.	GRCh37	8	59409293	59409293	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	36	192	0	ENST00000301645.3:c.778C>T	p.Arg260Cys	p.R260C	ENST00000301645	NM_000780.3	260	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS6171.1	778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCGCAGGC	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF1,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500625,Superfamily_domains:SSF48264	.	.	ENSP00000301645	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000301645	Transcript	1	.	ENSG00000167910	2651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CP7A1_HUMAN	CYP7A1	HGNC	.	.	UPI0000128214	SNV	CYP7A1,missense_variant,p.Arg260Cys,ENST00000301645,;	916	193	159	SUCCESS
IFNW1	3467	.	GRCh37	9	21141286	21141286	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752514780	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	101	0	ENST00000380229.2:c.284G>T	p.Arg95Leu	p.R95L	ENST00000380229	NM_002177.1	95	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS6496.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGCTCT	NONE	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691	.	.	ENSP00000369578	.	1/1	.	.	.	.	.	.	.	.	rs752514780	1/1	PASS	ENST00000380229	Transcript	.	.	ENSG00000177047	5448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	tolerated(0.15)	.	IFNW1_HUMAN	IFNW1	HGNC	.	.	UPI000002C6DC	SNV	IFNW1,missense_variant,p.Arg95Leu,ENST00000380229,;	859	101	24	SUCCESS
NOL6	65083	.	GRCh37	9	33468831	33468831	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	102	0	ENST00000297990.4:c.1066G>C	p.Val356Leu	p.V356L	ENST00000297990	NM_022917.4	356	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS6543.1	1066	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAACCAGCA	NONE	.	.	Pfam_domain:PF03813,hmmpanther:PTHR17972,Low_complexity_(Seg):seg	.	.	ENSP00000297990	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000297990	Transcript	.	.	ENSG00000165271	19910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.14)	.	NOL6_HUMAN	NOL6	HGNC	.	.	UPI0000050326	SNV	NOL6,missense_variant,p.Val356Leu,ENST00000297990,;NOL6,missense_variant,p.Val356Leu,ENST00000379471,;NOL6,missense_variant,p.Val356Leu,ENST00000353159,;NOL6,missense_variant,p.Val296Leu,ENST00000455041,;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,non_coding_transcript_exon_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	1154	102	57	SUCCESS
ABCD1	215	.	GRCh37	X	153001604	153001604	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782305233	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	158	0	ENST00000218104.3:c.1120G>C	p.Glu374Gln	p.E374Q	ENST00000218104	NM_000033.3	374	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS14728.1	1120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF21,TIGRFAM_domain:TIGR00954	.	.	ENSP00000218104	.	3/10	.	.	.	.	.	.	.	.	rs782305233	3/10	PASS	ENST00000218104	Transcript	.	.	ENSG00000101986	61	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.38)	.	ABCD1_HUMAN	ABCD1	HGNC	.	.	UPI0000000DF5	SNV	ABCD1,missense_variant,p.Glu42Gln,ENST00000443684,;ABCD1,missense_variant,p.Glu374Gln,ENST00000218104,;U52111.14,intron_variant,,ENST00000434284,;	1519	158	115	SUCCESS
FLNA	2316	.	GRCh37	X	153595782	153595782	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	46	0	ENST00000369850.3:c.851C>T	p.Ala284Val	p.A284V	ENST00000369850	NM_001110556.1	284	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS48194.1	851	RADIA|MUTECT|MUSE|VARSCANS	.	CACGGGCTTTC	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000358866	.	5/48	.	.	.	.	.	.	.	.	.	5/48	PASS	ENST00000369850	Transcript	.	.	ENSG00000196924	3754	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.181)	.	tolerated(0.1)	.	FLNA_HUMAN	FLNA	HGNC	Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN	.	UPI000013C596	SNV	FLNA,missense_variant,p.Ala284Val,ENST00000344736,;FLNA,missense_variant,p.Ala284Val,ENST00000422373,;FLNA,missense_variant,p.Ala284Val,ENST00000369850,;FLNA,missense_variant,p.Ala284Val,ENST00000360319,;FLNA,missense_variant,p.Ala270Val,ENST00000420627,;FLNA,upstream_gene_variant,,ENST00000465144,;	1088	46	27	SUCCESS
SCML2	10389	.	GRCh37	X	18283818	18283818	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	60	437	0	ENST00000251900.4:c.835C>G	p.Gln279Glu	p.Q279E	ENST00000251900	NM_006089.2	279	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS14185.1	835	RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGCTGTG	NONE	.	.	hmmpanther:PTHR12247:SF76,hmmpanther:PTHR12247	.	.	ENSP00000251900	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000251900	Transcript	.	.	ENSG00000102098	10581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.045)	.	tolerated(0.47)	.	SCML2_HUMAN	SCML2	HGNC	.	.	UPI0000071E54	SNV	SCML2,missense_variant,p.Gln279Glu,ENST00000251900,;SCML2,missense_variant,p.Gln15Glu,ENST00000398048,;	995	437	274	SUCCESS
PHKA2	5256	.	GRCh37	X	18972509	18972509	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	83	0	ENST00000379942.4:c.100T>G	p.Ser34Ala	p.S34A	ENST00000379942	NM_000292.2	34	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS14190.1	100	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGACAGCA	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5,Pfam_domain:PF00723,Superfamily_domains:SSF48208	.	.	ENSP00000369274	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000379942	Transcript	.	.	ENSG00000044446	8926	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.1)	.	KPB2_HUMAN	PHKA2	HGNC	.	.	UPI000012DF4B	SNV	PHKA2,missense_variant,p.Ser34Ala,ENST00000379942,;	766	83	53	SUCCESS
DMD	1756	.	GRCh37	X	31496394	31496394	+	synonymous_variant	Silent	SNP	G	G	A	rs149776669	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	41	225	1	ENST00000357033.4:c.8766C>T	p.Ser2922=	p.S2922=	ENST00000357033	NM_004007.2	2922	tcC/tcT	0	A:0.0003	.	.	.	.	A	S	protein_coding	YES	CCDS14233.1	8766	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGGAGTG	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	A:0	ENSP00000354923	.	59/79	.	.	.	.	.	.	.	.	rs149776669	59/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,synonymous_variant,p.%3D,ENST00000357033,;DMD,synonymous_variant,p.%3D,ENST00000358062,;DMD,synonymous_variant,p.%3D,ENST00000343523,;DMD,synonymous_variant,p.%3D,ENST00000378707,;DMD,synonymous_variant,p.%3D,ENST00000474231,;DMD,synonymous_variant,p.%3D,ENST00000378677,;DMD,synonymous_variant,p.%3D,ENST00000359836,;DMD,synonymous_variant,p.%3D,ENST00000541735,;DMD,downstream_gene_variant,,ENST00000445312,;	8973	226	247	SUCCESS
SSX7	280658	.	GRCh37	X	52677345	52677345	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	788	162	1282	0	ENST00000298181.5:c.432A>G	p.Lys144=	p.K144=	ENST00000298181	NM_173358.2	144	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS14343.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGTTTTCC	NONE	.	.	hmmpanther:PTHR14112:SF6,hmmpanther:PTHR14112	.	.	ENSP00000298181	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000298181	Transcript	.	.	ENSG00000187754	19653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSX7_HUMAN	SSX7	HGNC	.	.	UPI0000161119	SNV	SSX7,synonymous_variant,p.%3D,ENST00000298181,;	591	1282	950	SUCCESS
KLF8	11279	.	GRCh37	X	56291629	56291629	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144407506	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	16	163	0	ENST00000468660.1:c.98G>A	p.Arg33Gln	p.R33Q	ENST00000468660	NM_007250.4	33	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS14373.1	98	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGGAACA	NONE	byCluster	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF150	.	A:0.0001	ENSP00000417303	.	3/6	.	.	.	.	.	.	.	.	rs144407506	3/6	PASS	ENST00000468660	Transcript	.	.	ENSG00000102349	6351	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	KLF8_HUMAN	KLF8	HGNC	.	.	UPI000012DED7	SNV	KLF8,missense_variant,p.Arg33Gln,ENST00000374928,;KLF8,missense_variant,p.Arg33Gln,ENST00000468660,;KLF8,missense_variant,p.Arg33Gln,ENST00000358094,;KLF8,non_coding_transcript_exon_variant,,ENST00000476898,;KLF8,non_coding_transcript_exon_variant,,ENST00000462627,;	386	163	99	SUCCESS
PCDH19	57526	.	GRCh37	X	99658623	99658623	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	35	260	0	ENST00000373034.4:c.2187A>T	p.Ile729=	p.I729=	ENST00000373034	NM_001184880.1	729	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS55462.1	2187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTTATAAA	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40	.	.	ENSP00000362125	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000373034	Transcript	.	.	ENSG00000165194	14270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD19_HUMAN	PCDH19	HGNC	.	.	UPI00001D7BCD	SNV	PCDH19,synonymous_variant,p.%3D,ENST00000373034,;PCDH19,intron_variant,,ENST00000420881,;PCDH19,intron_variant,,ENST00000255531,;	3863	260	144	SUCCESS
HPS6	79803	.	GRCh37	10	103825804	103825804	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	16	0	ENST00000299238.5:c.573C>T	p.Phe191=	p.F191=	ENST00000299238	NM_024747.5	191	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS7527.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCGGGCT	NONE	.	.	hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476	.	.	ENSP00000299238	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299238	Transcript	1	.	ENSG00000166189	18817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPS6_HUMAN	HPS6	HGNC	.	.	UPI000000D7EB	SNV	HPS6,synonymous_variant,p.%3D,ENST00000299238,;	658	16	27	SUCCESS
MPP7	143098	.	GRCh37	10	28420525	28420525	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	74	67	0	ENST00000337532.5:c.411A>G	p.Val137=	p.V137=	ENST00000337532	NM_173496.3	137	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS7158.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTTACTGA	BUFFER|p.R141H|c.422G>A|4	.	.	hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000337907	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000337532	Transcript	.	.	ENSG00000150054	26542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP7_HUMAN	MPP7	HGNC	.	.	UPI00000558E1	SNV	MPP7,synonymous_variant,p.%3D,ENST00000445954,;MPP7,synonymous_variant,p.%3D,ENST00000337532,;MPP7,synonymous_variant,p.%3D,ENST00000375719,;MPP7,synonymous_variant,p.%3D,ENST00000375732,;MPP7,synonymous_variant,p.%3D,ENST00000540098,;MPP7,intron_variant,,ENST00000441595,;MPP7,non_coding_transcript_exon_variant,,ENST00000474731,;MPP7,non_coding_transcript_exon_variant,,ENST00000481244,;MPP7,synonymous_variant,p.%3D,ENST00000496637,;	688	67	201	SUCCESS
WDFY4	57705	.	GRCh37	10	50028385	50028385	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1348330104	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	60	70	0	ENST00000325239.5:c.5612G>A	p.Arg1871Gln	p.R1871Q	ENST00000325239	NM_020945.1	1871	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS44385.1	5612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCGGAGGA	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	32/61	.	.	.	.	.	.	.	.	.	32/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.27)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Arg1871Gln,ENST00000325239,;WDFY4,missense_variant,p.Arg418Gln,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,upstream_gene_variant,,ENST00000265453,;	5639	70	160	SUCCESS
WDFY4	57705	.	GRCh37	10	50040632	50040632	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs3747871	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	19	41	0	ENST00000325239.5:c.6541T>C	p.Ser2181Pro	p.S2181P	ENST00000325239	NM_020945.1	2181	Tca/Cca	0	.	C:0	.	C:0	.	C	S/P	protein_coding	YES	CCDS44385.1	6541	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTCACTG	NONE	byFrequency|byCluster|byHapMap|by1000G	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	C:0.002	.	ENSP00000320563	C:0	38/61	.	.	.	.	.	.	.	.	rs3747871	38/61	PASS	ENST00000325239	Transcript	.	C:0.0004	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.048)	C:0	tolerated(0.21)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Ser2181Pro,ENST00000325239,;WDFY4,missense_variant,p.Ser268Pro,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;	6568	41	125	SUCCESS
AGAP6	414189	.	GRCh37	10	51769163	51769163	+	synonymous_variant	Silent	SNP	G	G	A	rs1264481101	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	26	0	ENST00000374056.4:c.1209G>A	p.Thr403=	p.T403=	ENST00000374056		403	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS44397.1	1278	RADIA|VARSCANS	.	GCCACGACGTA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,PROSITE_profiles:PS50003	.	.	ENSP00000400972	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000412531	Transcript	.	.	ENSG00000204149	23466	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AGAP6_HUMAN	AGAP6	HGNC	.	.	UPI00002288AB	SNV	AGAP6,synonymous_variant,p.%3D,ENST00000374056,;AGAP6,synonymous_variant,p.%3D,ENST00000412531,;	1350	26	26	SUCCESS
ZNF518A	9849	.	GRCh37	10	97916784	97916784	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	61	95	0	ENST00000316045.5:n.572-863G>T		p.*191*	ENST00000316045				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAAGTGTGG	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000478086,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	1562	95	192	SUCCESS
OPALIN	93377	.	GRCh37	10	98108095	98108095	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs113141694	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	35	0	ENST00000371172.3:c.200A>G	p.Asp67Gly	p.D67G	ENST00000371172	NM_033207.3	67	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7448.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGTCACTT	NONE	.	.	hmmpanther:PTHR21102	.	.	ENSP00000360214	.	5/6	.	.	.	.	.	.	.	.	rs113141694	5/6	PASS	ENST00000371172	Transcript	.	.	ENSG00000197430	20707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious_low_confidence(0.01)	.	OPALI_HUMAN	OPALIN	HGNC	.	.	UPI0000137063	SNV	OPALIN,missense_variant,p.Asp67Gly,ENST00000371172,;OPALIN,missense_variant,p.Asp44Gly,ENST00000393871,;OPALIN,missense_variant,p.Asp57Gly,ENST00000419479,;OPALIN,missense_variant,p.Asp57Gly,ENST00000536387,;OPALIN,missense_variant,p.Asp56Gly,ENST00000393870,;	606	35	88	SUCCESS
PDGFD	80310	.	GRCh37	11	103797732	103797732	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371743652	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	57	0	ENST00000393158.2:c.895G>A	p.Val299Met	p.V299M	ENST00000393158		299	Gtg/Atg	0	A:0	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS41703.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGAGGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50278,hmmpanther:PTHR10127:SF13,hmmpanther:PTHR10127,Gene3D:2.10.90.10,Pfam_domain:PF00341,Superfamily_domains:SSF57501	T:0	A:0.0001	ENSP00000376865	T:0	6/7	.	.	.	.	.	.	.	.	rs371743652,COSM4017348,COSM4017349	6/7	PASS	ENST00000393158	Transcript	.	T:0.0002	ENSG00000170962	30620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.984)	T:0.001	deleterious(0)	0,1,1	PDGFD_HUMAN	PDGFD	HGNC	.	.	UPI0000034811	SNV	PDGFD,missense_variant,p.Val293Met,ENST00000302251,;PDGFD,missense_variant,p.Val299Met,ENST00000393158,;	1075	57	125	SUCCESS
PKNOX2	63876	.	GRCh37	11	125237753	125237753	+	synonymous_variant	Silent	SNP	C	C	T	rs770561983	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	66	0	ENST00000298282.9:c.99C>T	p.Thr33=	p.T33=	ENST00000298282	NM_022062.2	33	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41730.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCGCCCA	NONE	byFrequency	.	hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850	.	.	ENSP00000298282	.	5/13	.	.	.	.	.	.	.	.	rs770561983	5/13	PASS	ENST00000298282	Transcript	.	.	ENSG00000165495	16714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKNX2_HUMAN	PKNOX2	HGNC	H0YLX0_HUMAN,E9PRB6_HUMAN,E9PKL2_HUMAN,B7ZAF3_HUMAN	.	UPI000023271E	SNV	PKNOX2,synonymous_variant,p.%3D,ENST00000558705,;PKNOX2,synonymous_variant,p.%3D,ENST00000531212,;PKNOX2,synonymous_variant,p.%3D,ENST00000298282,;PKNOX2,synonymous_variant,p.%3D,ENST00000527238,;PKNOX2,intron_variant,,ENST00000542175,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000558729,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000561115,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000559662,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000557814,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000561298,;PKNOX2,intron_variant,,ENST00000532623,;	370	66	130	SUCCESS
IGSF9B	22997	.	GRCh37	11	133826687	133826687	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	24	0	ENST00000321016.8:c.-38T>C		p.*13*	ENST00000321016				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS61010.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCAAAGTG	NONE	.	.	.	.	.	ENSP00000436552	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,5_prime_UTR_variant,,ENST00000533871,;IGSF9B,5_prime_UTR_variant,,ENST00000321016,;IGSF9B,upstream_gene_variant,,ENST00000526663,;AP000911.1,downstream_gene_variant,,ENST00000582427,;	194	24	50	SUCCESS
OR8I2	120586	.	GRCh37	11	55861148	55861148	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs148027692	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	54	75	0	ENST00000302124.2:c.365G>T	p.Arg122Leu	p.R122L	ENST00000302124	NM_001003750.1	122	cGc/cTc	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS31517.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCGCTACA	CODON|p.R122C|c.364C>T|3	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0001	ENSP00000303864	.	1/1	.	.	.	.	.	.	.	.	rs148027692,COSM327492	1/1	PASS	ENST00000302124	Transcript	.	.	ENSG00000172154	15310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.566)	.	deleterious(0)	0,1	OR8I2_HUMAN	OR8I2	HGNC	H0YLY8_HUMAN	.	UPI0000041D16	SNV	OR8I2,missense_variant,p.Arg122Leu,ENST00000302124,;OR8I4P,downstream_gene_variant,,ENST00000526965,;	396	76	163	SUCCESS
MRPL11	65003	.	GRCh37	11	66206166	66206166	+	synonymous_variant	Silent	SNP	G	G	T	rs754601760	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	58	0	ENST00000310999.7:c.60C>A	p.Ile20=	p.I20=	ENST00000310999	NM_016050.3	20	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8139.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGATCAC	NONE	.	.	Superfamily_domains:SSF54747,SMART_domains:SM00649,Pfam_domain:PF03946,Gene3D:3.30.1550.10,TIGRFAM_domain:TIGR01632,hmmpanther:PTHR11661,HAMAP:MF_00736	.	.	ENSP00000308897	.	1/5	.	.	.	.	.	.	.	.	rs754601760	1/5	PASS	ENST00000310999	Transcript	.	.	ENSG00000174547	14042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM11_HUMAN	MRPL11	HGNC	.	.	UPI0000049CE5	SNV	MRPL11,synonymous_variant,p.%3D,ENST00000329819,;MRPL11,synonymous_variant,p.%3D,ENST00000310999,;MRPL11,intron_variant,,ENST00000430466,;MRPL11,upstream_gene_variant,,ENST00000528272,;MRPL11,intron_variant,,ENST00000524576,;MRPL11,synonymous_variant,p.%3D,ENST00000534488,;	154	58	65	SUCCESS
SSH3	54961	.	GRCh37	11	67075197	67075197	+	synonymous_variant	Silent	SNP	C	C	T	rs79688961	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	44	0	ENST00000308127.4:c.780C>T	p.Ala260=	p.A260=	ENST00000308127	NM_017857.3	260	gcC/gcT	0	T:0.0009	T:0.0045	.	T:0	.	T	A	protein_coding	YES	CCDS8157.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCGAGCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10159:SF107,hmmpanther:PTHR10159	T:0	T:0	ENSP00000312081	T:0	7/14	.	.	.	.	.	.	.	.	rs79688961	7/14	PASS	ENST00000308127	Transcript	.	T:0.0012	ENSG00000172830	30581	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SSH3_HUMAN	SSH3	HGNC	.	.	UPI0000038D01	SNV	SSH3,synonymous_variant,p.%3D,ENST00000308127,;SSH3,synonymous_variant,p.%3D,ENST00000527821,;SSH3,synonymous_variant,p.%3D,ENST00000308298,;SSH3,synonymous_variant,p.%3D,ENST00000376757,;SSH3,non_coding_transcript_exon_variant,,ENST00000529224,;SSH3,intron_variant,,ENST00000532181,;SSH3,upstream_gene_variant,,ENST00000531495,;SSH3,downstream_gene_variant,,ENST00000534112,;SSH3,upstream_gene_variant,,ENST00000525913,;SSH3,3_prime_UTR_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	958	44	86	SUCCESS
CABP4	57010	.	GRCh37	11	67223230	67223230	+	synonymous_variant	Silent	SNP	C	C	T	rs369080675	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	32	0	ENST00000325656.5:c.336C>T	p.Tyr112=	p.Y112=	ENST00000325656	NM_145200.3	112	taC/taT	0	T:0.0002	T:0.0008	.	T:0	.	T	Y	protein_coding	YES	CCDS8166.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACGGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF129	T:0	T:0	ENSP00000324960	T:0	1/6	.	.	.	.	.	.	.	.	rs369080675	1/6	PASS	ENST00000325656	Transcript	.	T:0.0002	ENSG00000175544	1386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CABP4_HUMAN	CABP4	HGNC	.	.	UPI0000126D68	SNV	CABP4,synonymous_variant,p.%3D,ENST00000325656,;CABP4,5_prime_UTR_variant,,ENST00000438189,;GPR152,upstream_gene_variant,,ENST00000312457,;CTC-1337H24.1,upstream_gene_variant,,ENST00000602912,;CABP4,non_coding_transcript_exon_variant,,ENST00000542025,;CABP4,downstream_gene_variant,,ENST00000542233,;CABP4,downstream_gene_variant,,ENST00000538060,;CABP4,synonymous_variant,p.%3D,ENST00000545777,;CABP4,downstream_gene_variant,,ENST00000545040,;	413	32	64	SUCCESS
NT5DC3	51559	.	GRCh37	12	104208729	104208729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	260	149	0	ENST00000392876.3:c.379A>G	p.Ile127Val	p.I127V	ENST00000392876	NM_001031701.2	127	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS41824.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATGAGAA	BUFFER|p.R48Q|c.143G>A|3,BUFFER|p.R123Q|c.368G>A|3	.	.	Superfamily_domains:SSF56784,PIRSF_domain:PIRSF017434,Pfam_domain:PF05761,TIGRFAM_domain:TIGR02244,hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF11	.	.	ENSP00000376615	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000392876	Transcript	.	.	ENSG00000111696	30826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.36)	.	NT5D3_HUMAN	NT5DC3	HGNC	.	.	UPI0000192759	SNV	NT5DC3,missense_variant,p.Ile127Val,ENST00000392876,;RP11-650K20.2,upstream_gene_variant,,ENST00000549448,;	420	149	486	SUCCESS
UNG	7374	.	GRCh37	12	109540669	109540669	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	38	51	0	ENST00000242576.2:c.559T>C	p.Ser187Pro	p.S187P	ENST00000242576	NM_080911.2	187	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS9124.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGTCTACA	NONE	.	.	HAMAP:MF_00148,hmmpanther:PTHR11264,hmmpanther:PTHR11264:SF0,Pfam_domain:PF03167,Gene3D:3.40.470.10,TIGRFAM_domain:TIGR00628,SMART_domains:SM00986,SMART_domains:SM00987,Superfamily_domains:SSF52141	.	.	ENSP00000242576	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000242576	Transcript	.	.	ENSG00000076248	12572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	deleterious(0.02)	.	UNG_HUMAN	UNG	HGNC	E5KTA5_HUMAN	.	UPI000002E951	SNV	UNG,missense_variant,p.Ser187Pro,ENST00000242576,;UNG,missense_variant,p.Ser178Pro,ENST00000336865,;UNG,missense_variant,p.Ser178Pro,ENST00000539287,;UNG,3_prime_UTR_variant,,ENST00000446767,;UNG,downstream_gene_variant,,ENST00000540158,;	665	51	140	SUCCESS
PDE3A	5139	.	GRCh37	12	20833113	20833113	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs986975089	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	292	82	193	0	ENST00000359062.3:c.3334T>A	p.Ser1112Thr	p.S1112T	ENST00000359062	NM_001244683.1	1112	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31754.1	3334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACTCTTCA	NONE	.	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347	.	.	ENSP00000351957	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.32)	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.Ser1112Thr,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	3374	193	374	SUCCESS
CASC1	0	.	GRCh37	12	25348052	25348052	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs749614134	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	39	50	0	ENST00000395987.3:c.-40C>A		p.*14*	ENST00000395987	NM_018272.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31759.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGAGCAGAA	NONE	.	.	.	.	.	ENSP00000379310	.	1/16	.	.	.	.	.	.	.	.	rs749614134	1/16	PASS	ENST00000395987	Transcript	.	.	ENSG00000118307	29599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASC1	HGNC	G3V3G6_HUMAN,F8W8F9_HUMAN	.	UPI00001FB7A4	SNV	CASC1,5_prime_UTR_variant,,ENST00000395987,;CASC1,5_prime_UTR_variant,,ENST00000537577,;CASC1,5_prime_UTR_variant,,ENST00000395990,;CASC1,5_prime_UTR_variant,,ENST00000554347,;CASC1,5_prime_UTR_variant,,ENST00000320267,;CASC1,5_prime_UTR_variant,,ENST00000545133,;LYRM5,upstream_gene_variant,,ENST00000556927,;LYRM5,upstream_gene_variant,,ENST00000557540,;LYRM5,upstream_gene_variant,,ENST00000381356,;LYRM5,upstream_gene_variant,,ENST00000556402,;CASC1,upstream_gene_variant,,ENST00000354189,;LYRM5,upstream_gene_variant,,ENST00000556351,;LYRM5,upstream_gene_variant,,ENST00000556198,;LYRM5,upstream_gene_variant,,ENST00000556885,;LYRM5,upstream_gene_variant,,ENST00000553788,;LYRM5,upstream_gene_variant,,ENST00000555711,;LYRM5,upstream_gene_variant,,ENST00000554266,;CASC1,non_coding_transcript_exon_variant,,ENST00000557684,;LYRM5,upstream_gene_variant,,ENST00000555151,;CASC1,5_prime_UTR_variant,,ENST00000554533,;CASC1,5_prime_UTR_variant,,ENST00000556467,;CASC1,non_coding_transcript_exon_variant,,ENST00000555240,;CASC1,non_coding_transcript_exon_variant,,ENST00000556547,;	27	50	102	SUCCESS
ITGA7	3679	.	GRCh37	12	56087102	56087102	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	26	0	ENST00000555728.1:c.2668-1G>A		p.X890_splice	ENST00000555728		890		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55832.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCTGTGG	NONE	.	.	.	.	.	ENSP00000452120	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	HIGH	19/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,splice_acceptor_variant,,ENST00000452168,;ITGA7,splice_acceptor_variant,,ENST00000257879,;ITGA7,splice_acceptor_variant,,ENST00000394230,;ITGA7,splice_acceptor_variant,,ENST00000555728,;ITGA7,splice_acceptor_variant,,ENST00000553804,;ITGA7,splice_acceptor_variant,,ENST00000257880,;ITGA7,splice_acceptor_variant,,ENST00000347027,;ITGA7,splice_acceptor_variant,,ENST00000394229,;ITGA7,upstream_gene_variant,,ENST00000557555,;ITGA7,splice_acceptor_variant,,ENST00000554327,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,;ITGA7,downstream_gene_variant,,ENST00000557058,;	.	26	83	SUCCESS
MMP19	4327	.	GRCh37	12	56230959	56230959	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	262	148	0	ENST00000322569.4:c.1388G>T	p.Arg463Ile	p.R463I	ENST00000322569	NM_002429.5	463	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS8895.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCTGGGA	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,SMART_domains:SM00120,Superfamily_domains:SSF50923	.	.	ENSP00000313437	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000322569	Transcript	.	.	ENSG00000123342	7165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	tolerated(0.06)	.	MMP19_HUMAN	MMP19	HGNC	.	.	UPI0000030AE6	SNV	MMP19,missense_variant,p.Arg440Ile,ENST00000548629,;MMP19,missense_variant,p.Arg177Ile,ENST00000394182,;MMP19,missense_variant,p.Arg463Ile,ENST00000322569,;MMP19,3_prime_UTR_variant,,ENST00000409200,;TMEM198B,downstream_gene_variant,,ENST00000487582,;TMEM198B,downstream_gene_variant,,ENST00000508246,;MMP19,downstream_gene_variant,,ENST00000547487,;TMEM198B,downstream_gene_variant,,ENST00000482378,;MMP19,downstream_gene_variant,,ENST00000547299,;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000471276,;MMP19,3_prime_UTR_variant,,ENST00000548882,;MMP19,3_prime_UTR_variant,,ENST00000552872,;MMP19,non_coding_transcript_exon_variant,,ENST00000547685,;MMP19,downstream_gene_variant,,ENST00000552763,;TMEM198B,downstream_gene_variant,,ENST00000484016,;	1480	148	497	SUCCESS
DGKA	1606	.	GRCh37	12	56332338	56332338	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	279	92	123	0	ENST00000331886.5:c.393C>T	p.Asp131=	p.D131=	ENST00000331886	NM_001345.4	131	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS8896.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACAGCTC	NONE	.	.	Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF13405,PROSITE_patterns:PS00018,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF38,PROSITE_profiles:PS50222	.	.	ENSP00000328405	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000331886	Transcript	.	.	ENSG00000065357	2849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKA_HUMAN	DGKA	HGNC	G3V4I3_HUMAN,G3V327_HUMAN,F8W1M3_HUMAN,F8W1H7_HUMAN,F8VWX8_HUMAN,F8VNZ9_HUMAN,C9JM35_HUMAN	.	UPI000007417B	SNV	DGKA,synonymous_variant,p.%3D,ENST00000556001,;DGKA,synonymous_variant,p.%3D,ENST00000551707,;DGKA,synonymous_variant,p.%3D,ENST00000555218,;DGKA,synonymous_variant,p.%3D,ENST00000394147,;DGKA,synonymous_variant,p.%3D,ENST00000331886,;DGKA,synonymous_variant,p.%3D,ENST00000549368,;DGKA,synonymous_variant,p.%3D,ENST00000551156,;DGKA,downstream_gene_variant,,ENST00000557080,;DGKA,downstream_gene_variant,,ENST00000547015,;DGKA,downstream_gene_variant,,ENST00000549629,;DGKA,downstream_gene_variant,,ENST00000553783,;DGKA,downstream_gene_variant,,ENST00000546878,;DGKA,upstream_gene_variant,,ENST00000552903,;DGKA,downstream_gene_variant,,ENST00000432422,;DGKA,downstream_gene_variant,,ENST00000555090,;DGKA,downstream_gene_variant,,ENST00000555025,;DGKA,non_coding_transcript_exon_variant,,ENST00000549079,;DGKA,intron_variant,,ENST00000549323,;DGKA,downstream_gene_variant,,ENST00000550115,;DGKA,downstream_gene_variant,,ENST00000548378,;DGKA,synonymous_variant,p.%3D,ENST00000402956,;DGKA,non_coding_transcript_exon_variant,,ENST00000546995,;DGKA,non_coding_transcript_exon_variant,,ENST00000549085,;DGKA,non_coding_transcript_exon_variant,,ENST00000549097,;DGKA,non_coding_transcript_exon_variant,,ENST00000552478,;DGKA,non_coding_transcript_exon_variant,,ENST00000551296,;DGKA,non_coding_transcript_exon_variant,,ENST00000547358,;DGKA,non_coding_transcript_exon_variant,,ENST00000556344,;DGKA,non_coding_transcript_exon_variant,,ENST00000551739,;DGKA,non_coding_transcript_exon_variant,,ENST00000548407,;DGKA,non_coding_transcript_exon_variant,,ENST00000547535,;DGKA,intron_variant,,ENST00000553084,;DGKA,intron_variant,,ENST00000550888,;DGKA,intron_variant,,ENST00000548549,;DGKA,downstream_gene_variant,,ENST00000547324,;DGKA,upstream_gene_variant,,ENST00000548047,;DGKA,upstream_gene_variant,,ENST00000554434,;DGKA,upstream_gene_variant,,ENST00000551585,;DGKA,upstream_gene_variant,,ENST00000550484,;DGKA,upstream_gene_variant,,ENST00000549986,;DGKA,upstream_gene_variant,,ENST00000552335,;DGKA,upstream_gene_variant,,ENST00000552652,;DGKA,upstream_gene_variant,,ENST00000546895,;DGKA,downstream_gene_variant,,ENST00000551615,;DGKA,downstream_gene_variant,,ENST00000548479,;DGKA,upstream_gene_variant,,ENST00000557180,;DGKA,upstream_gene_variant,,ENST00000552687,;	847	123	371	SUCCESS
LAG3	3902	.	GRCh37	12	6884573	6884573	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	9	82	0	ENST00000203629.2:c.916G>A	p.Asp306Asn	p.D306N	ENST00000203629	NM_002286.5	306	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8561.1	916	MUTECT|MUSE	.	GCCCTGACCTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF18,hmmpanther:PTHR11890,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000203629	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000203629	Transcript	.	.	ENSG00000089692	6476	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.787)	.	deleterious(0.01)	.	LAG3_HUMAN	LAG3	HGNC	.	.	UPI000013C645	SNV	LAG3,missense_variant,p.Asp306Asn,ENST00000203629,;LAG3,missense_variant,p.Asp306Asn,ENST00000441671,;PTMS,downstream_gene_variant,,ENST00000389462,;PTMS,downstream_gene_variant,,ENST00000309083,;PTMS,downstream_gene_variant,,ENST00000538057,;PTMS,downstream_gene_variant,,ENST00000540828,;PTMS,downstream_gene_variant,,ENST00000540667,;LAG3,non_coding_transcript_exon_variant,,ENST00000538079,;LAG3,upstream_gene_variant,,ENST00000541049,;	1249	82	135	SUCCESS
CCDC41	0	.	GRCh37	12	94706794	94706794	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	141	103	0	ENST00000397809.5:c.1708-1G>A		p.X570_splice	ENST00000397809	NM_016122.2	570		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41820.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCTAAAA	NONE	.	.	.	.	.	ENSP00000380911	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397809	Transcript	.	.	ENSG00000173588	17966	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CCDC41	HGNC	J3KNW7_HUMAN,H0YHH5_HUMAN	.	UPI0000D4BD6F	SNV	CCDC41,splice_acceptor_variant,,ENST00000397809,;CCDC41,splice_acceptor_variant,,ENST00000339839,;CCDC41,splice_acceptor_variant,,ENST00000552632,;CCDC41,non_coding_transcript_exon_variant,,ENST00000546783,;CCDC41,splice_acceptor_variant,,ENST00000547232,;	.	103	268	SUCCESS
WNK1	65125	.	GRCh37	12	978315	978315	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	80	0	ENST00000315939.6:c.2140-2116C>T		p.*714*	ENST00000315939	NM_018979.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCACCAT	NONE	.	.	.	.	.	ENSP00000313059	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315939	Transcript	.	.	ENSG00000060237	14540	.	.	MODIFIER	8/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNK1_HUMAN	WNK1	HGNC	Q96CZ6_HUMAN	.	UPI000013CD65	SNV	WNK1,3_prime_UTR_variant,,ENST00000574564,;WNK1,intron_variant,,ENST00000315939,;WNK1,intron_variant,,ENST00000535698,;WNK1,intron_variant,,ENST00000545285,;WNK1,intron_variant,,ENST00000574679,;WNK1,intron_variant,,ENST00000544965,;WNK1,intron_variant,,ENST00000340908,;WNK1,intron_variant,,ENST00000530271,;WNK1,intron_variant,,ENST00000537687,;WNK1,intron_variant,,ENST00000535572,;	.	80	57	SUCCESS
SUPT20H	55578	.	GRCh37	13	37599542	37599542	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768205505	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	73	110	0	ENST00000350612.6:c.1244A>G	p.Asn415Ser	p.N415S	ENST00000350612	NM_001014286.2	415	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS31959.1	1244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATTCTGG	NONE	.	.	hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3	.	.	ENSP00000218894	.	17/26	.	.	.	.	.	.	.	.	rs768205505	17/26	PASS	ENST00000350612	Transcript	.	.	ENSG00000102710	20596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.65)	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,missense_variant,p.Asn26Ser,ENST00000469488,;SUPT20H,missense_variant,p.Asn415Ser,ENST00000350612,;SUPT20H,missense_variant,p.Asn379Ser,ENST00000542180,;SUPT20H,missense_variant,p.Asn416Ser,ENST00000360252,;SUPT20H,missense_variant,p.Asn416Ser,ENST00000464744,;SUPT20H,missense_variant,p.Asn416Ser,ENST00000356185,;SUPT20H,missense_variant,p.Asn415Ser,ENST00000475892,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000466563,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000476539,;SUPT20H,intron_variant,,ENST00000490602,;SUPT20H,missense_variant,p.Asn403Ser,ENST00000490716,;SUPT20H,missense_variant,p.Asn379Ser,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000493537,;SUPT20H,downstream_gene_variant,,ENST00000478911,;SUPT20H,upstream_gene_variant,,ENST00000484078,;	1465	110	234	SUCCESS
MDP1	145553	.	GRCh37	14	24684913	24684913	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	68	86	0	ENST00000288087.7:c.98+30G>T		p.*33*	ENST00000288087	NM_138476.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9620.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTCGCCCC	NONE	.	.	.	.	.	ENSP00000288087	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000288087	Transcript	.	.	ENSG00000213920	28781	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGDP1_HUMAN	MDP1	HGNC	B2R528_HUMAN	.	UPI00001969C5	SNV	MDP1,intron_variant,,ENST00000396833,;NEDD8-MDP1,intron_variant,,ENST00000534348,;MDP1,intron_variant,,ENST00000288087,;CHMP4A,upstream_gene_variant,,ENST00000530996,;CHMP4A,upstream_gene_variant,,ENST00000609024,;TM9SF1,upstream_gene_variant,,ENST00000530611,;NEDD8,downstream_gene_variant,,ENST00000250495,;CHMP4A,upstream_gene_variant,,ENST00000533011,;CHMP4A,upstream_gene_variant,,ENST00000347519,;TM9SF1,upstream_gene_variant,,ENST00000556387,;NEDD8,downstream_gene_variant,,ENST00000524927,;NEDD8-MDP1,intron_variant,,ENST00000604306,;MDP1,intron_variant,,ENST00000532557,;MDP1,upstream_gene_variant,,ENST00000525696,;NEDD8,downstream_gene_variant,,ENST00000526430,;CHMP4A,upstream_gene_variant,,ENST00000531158,;NEDD8,downstream_gene_variant,,ENST00000531430,;CHMP4A,upstream_gene_variant,,ENST00000542700,;NEDD8,downstream_gene_variant,,ENST00000527046,;MDP1,non_coding_transcript_exon_variant,,ENST00000533536,;MDP1,non_coding_transcript_exon_variant,,ENST00000466422,;MDP1,non_coding_transcript_exon_variant,,ENST00000528849,;MDP1,non_coding_transcript_exon_variant,,ENST00000531553,;AL136419.6,non_coding_transcript_exon_variant,,ENST00000565988,;MDP1,non_coding_transcript_exon_variant,,ENST00000532742,;MDP1,non_coding_transcript_exon_variant,,ENST00000530222,;AL136419.6,intron_variant,,ENST00000528804,;NEDD8-MDP1,intron_variant,,ENST00000530579,;NEDD8-MDP1,intron_variant,,ENST00000605847,;CHMP4A,upstream_gene_variant,,ENST00000524955,;NEDD8,downstream_gene_variant,,ENST00000396828,;CHMP4A,upstream_gene_variant,,ENST00000527154,;NEDD8,downstream_gene_variant,,ENST00000560427,;CHMP4A,upstream_gene_variant,,ENST00000534106,;CHMP4A,upstream_gene_variant,,ENST00000533523,;CHMP4A,upstream_gene_variant,,ENST00000552620,;	.	86	205	SUCCESS
LRRK1	79705	.	GRCh37	15	101592005	101592005	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	10	67	0	ENST00000388948.3:c.3529G>A	p.Asp1177Asn	p.D1177N	ENST00000388948	NM_024652.3	1177	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS42086.1	3529	MUTECT|MUSE	.	ACACGGACCCC	NONE	.	.	.	.	.	ENSP00000373600	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.22)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Asp1177Asn,ENST00000388948,;LRRK1,missense_variant,p.Asp1174Asn,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;RP11-505E24.3,upstream_gene_variant,,ENST00000558979,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,upstream_gene_variant,,ENST00000526457,;	3888	67	175	SUCCESS
NPAP1	23742	.	GRCh37	15	24924085	24924085	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	63	1	ENST00000329468.2:c.3071T>C	p.Met1024Thr	p.M1024T	ENST00000329468	NM_018958.2	1024	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS10015.1	3071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATGTCTG	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.36)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Met1024Thr,ENST00000329468,;	3545	64	113	SUCCESS
SEMA6D	80031	.	GRCh37	15	48057214	48057214	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	42	0	ENST00000316364.5:c.1388G>T	p.Ser463Ile	p.S463I	ENST00000316364	NM_153618.1	463	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS32225.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGCGTAT	BUFFER|p.V464I|c.1390G>A|3	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	.	.	ENSP00000324857	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Ser463Ile,ENST00000389432,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000537942,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000358066,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000354744,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000389428,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000389425,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000355997,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000536845,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000389433,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000558014,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000558816,;SEMA6D,missense_variant,p.Ser463Ile,ENST00000316364,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,upstream_gene_variant,,ENST00000558431,;	1827	42	99	SUCCESS
MAPK6	5597	.	GRCh37	15	52357196	52357196	+	stop_retained_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	100	159	0	ENST00000261845.5:c.2165A>G	p.Ter722=	p.*722=	ENST00000261845	NM_002748.3	722	tAa/tGa	0	.	.	.	.	.	G	*	protein_coding	YES	CCDS10147.1	2165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTAAAACA	NONE	.	.	.	.	.	ENSP00000261845	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000261845	Transcript	.	.	ENSG00000069956	6879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MK06_HUMAN	MAPK6	HGNC	.	.	UPI000012F177	SNV	MAPK6,stop_retained_variant,p.%3D,ENST00000261845,;CTD-2184D3.5,intron_variant,,ENST00000558607,;	2972	159	254	SUCCESS
UNC13C	440279	.	GRCh37	15	54435882	54435882	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	56	68	0	ENST00000260323.11:c.3071+1G>A		p.X1024_splice	ENST00000260323	NM_001080534.1	1024		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45264.1	.	RADIA|MUTECT|MUSE	.	GGTGGGTAAGT	NONE	.	.	.	.	.	ENSP00000260323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	HIGH	3/31	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,splice_donor_variant,,ENST00000537900,;UNC13C,splice_donor_variant,,ENST00000545554,;UNC13C,splice_donor_variant,,ENST00000260323,;	.	68	197	SUCCESS
SCAPER	49855	.	GRCh37	15	77087747	77087747	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	80	0	ENST00000324767.7:c.646G>A	p.Ala216Thr	p.A216T	ENST00000324767	NM_020843.2	216	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS53962.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCCAGAC	NONE	.	.	hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2	.	.	ENSP00000454973	.	8/32	.	.	.	.	.	.	.	.	.	8/32	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.29)	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Ala216Thr,ENST00000324767,;SCAPER,missense_variant,p.Ala216Thr,ENST00000563290,;SCAPER,missense_variant,p.Ala150Thr,ENST00000565372,;SCAPER,missense_variant,p.Ala216Thr,ENST00000564590,;SCAPER,missense_variant,p.Ala82Thr,ENST00000568382,;SCAPER,missense_variant,p.Ala216Thr,ENST00000565970,;SCAPER,5_prime_UTR_variant,,ENST00000538941,;SCAPER,downstream_gene_variant,,ENST00000564177,;SCAPER,non_coding_transcript_exon_variant,,ENST00000567618,;SCAPER,non_coding_transcript_exon_variant,,ENST00000562890,;SCAPER,missense_variant,p.Ala19Thr,ENST00000568549,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	742	80	105	SUCCESS
MFGE8	4240	.	GRCh37	15	89450543	89450543	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	87	0	ENST00000268150.8:c.270T>G	p.Ser90=	p.S90=	ENST00000268150	NM_005928.2	90	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS10347.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACAGACGA	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Pfam_domain:PF00754,Gene3D:2.60.120.260,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,PROSITE_profiles:PS50022	.	.	ENSP00000268150	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000268150	Transcript	.	.	ENSG00000140545	7036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFGM_HUMAN	MFGE8	HGNC	.	.	UPI000013D7A3	SNV	MFGE8,synonymous_variant,p.%3D,ENST00000542878,;MFGE8,synonymous_variant,p.%3D,ENST00000566497,;MFGE8,synonymous_variant,p.%3D,ENST00000539437,;MFGE8,synonymous_variant,p.%3D,ENST00000268151,;MFGE8,synonymous_variant,p.%3D,ENST00000558029,;MFGE8,synonymous_variant,p.%3D,ENST00000268150,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559997,;MFGE8,upstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,;MFGE8,non_coding_transcript_exon_variant,,ENST00000558352,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559770,;MFGE8,downstream_gene_variant,,ENST00000557944,;MFGE8,downstream_gene_variant,,ENST00000558773,;MFGE8,upstream_gene_variant,,ENST00000559259,;MFGE8,downstream_gene_variant,,ENST00000559143,;	362	87	166	SUCCESS
RABEP1	9135	.	GRCh37	17	5265110	5265110	+	intron_variant	Intron	SNP	C	C	T	rs750341081	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	14	0	ENST00000537505.1:c.1434+140C>T		p.*478*	ENST00000537505				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45592.1	.	RADIA|MUTECT|MUSE	.	TGTGTCACCTG	NONE	.	.	.	.	.	ENSP00000262477	.	.	.	.	.	.	.	.	.	.	rs750341081	.	PASS	ENST00000262477	Transcript	.	.	ENSG00000029725	17677	.	.	MODIFIER	9/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RABE1_HUMAN	RABEP1	HGNC	.	.	UPI00000745A5	SNV	RABEP1,intron_variant,,ENST00000408982,;RABEP1,intron_variant,,ENST00000262477,;RABEP1,intron_variant,,ENST00000341923,;RABEP1,intron_variant,,ENST00000537505,;RABEP1,intron_variant,,ENST00000546142,;RABEP1,downstream_gene_variant,,ENST00000574568,;RP11-420A6.2,downstream_gene_variant,,ENST00000572792,;NUP88,non_coding_transcript_exon_variant,,ENST00000573169,;NUP88,3_prime_UTR_variant,,ENST00000576708,;RABEP1,intron_variant,,ENST00000575475,;	.	14	15	SUCCESS
APPBP2	10513	.	GRCh37	17	58539193	58539193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	113	149	0	ENST00000083182.3:c.914G>T	p.Cys305Phe	p.C305F	ENST00000083182	NM_006380.2	305	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS32699.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACAGATA	NONE	.	.	PROSITE_profiles:PS50005,hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF114,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000083182	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000083182	Transcript	.	.	ENSG00000062725	622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.15)	.	APBP2_HUMAN	APPBP2	HGNC	K7EIZ9_HUMAN	.	UPI000006D959	SNV	APPBP2,missense_variant,p.Cys305Phe,ENST00000083182,;APPBP2,non_coding_transcript_exon_variant,,ENST00000592995,;APPBP2,downstream_gene_variant,,ENST00000590244,;APPBP2,3_prime_UTR_variant,,ENST00000589341,;	1202	149	282	SUCCESS
BPTF	2186	.	GRCh37	17	65889635	65889635	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	464	294	423	0	ENST00000321892.4:c.2583T>G	p.Ala861=	p.A861=	ENST00000321892		861	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS11673.1	2205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTTTGAA	NONE	.	.	hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,synonymous_variant,p.%3D,ENST00000306378,;BPTF,synonymous_variant,p.%3D,ENST00000544778,;BPTF,synonymous_variant,p.%3D,ENST00000424123,;BPTF,synonymous_variant,p.%3D,ENST00000321892,;BPTF,synonymous_variant,p.%3D,ENST00000335221,;BPTF,downstream_gene_variant,,ENST00000544491,;BPTF,non_coding_transcript_exon_variant,,ENST00000579173,;BPTF,non_coding_transcript_exon_variant,,ENST00000467104,;	2265	423	758	SUCCESS
PHF23	79142	.	GRCh37	17	7139869	7139869	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs564325710	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	33	60	0	ENST00000320316.3:c.377C>G	p.Thr126Ser	p.T126S	ENST00000320316	NM_024297.2	126	aCc/aGc	0	.	T:0	.	T:0	.	C	T/S	protein_coding	YES	CCDS42250.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGTAGCA	NONE	by1000G	.	hmmpanther:PTHR14571,hmmpanther:PTHR14571:SF8	T:0	.	ENSP00000322579	T:0	4/5	.	.	.	.	.	.	.	.	rs564325710	4/5	PASS	ENST00000320316	Transcript	.	T:0.0002	ENSG00000040633	28428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.22)	T:0.001	tolerated(0.06)	.	PHF23_HUMAN	PHF23	HGNC	I3L410_HUMAN,I3L2W6_HUMAN,I3L1N0_HUMAN,I3L0X3_HUMAN	.	UPI000006CD0D	SNV	PHF23,missense_variant,p.Thr122Ser,ENST00000454255,;PHF23,missense_variant,p.Thr130Ser,ENST00000570899,;PHF23,missense_variant,p.Thr117Ser,ENST00000573826,;PHF23,missense_variant,p.Thr126Ser,ENST00000320316,;PHF23,missense_variant,p.Thr59Ser,ENST00000571362,;PHF23,5_prime_UTR_variant,,ENST00000572789,;PHF23,5_prime_UTR_variant,,ENST00000574323,;PHF23,5_prime_UTR_variant,,ENST00000574236,;PHF23,5_prime_UTR_variant,,ENST00000576955,;PHF23,5_prime_UTR_variant,,ENST00000574407,;GABARAP,downstream_gene_variant,,ENST00000302386,;GABARAP,downstream_gene_variant,,ENST00000571129,;GABARAP,downstream_gene_variant,,ENST00000571253,;DVL2,upstream_gene_variant,,ENST00000575458,;GABARAP,downstream_gene_variant,,ENST00000573928,;GABARAP,downstream_gene_variant,,ENST00000577035,;DVL2,upstream_gene_variant,,ENST00000575756,;DVL2,upstream_gene_variant,,ENST00000005340,;DVL2,upstream_gene_variant,,ENST00000574143,;PHF23,downstream_gene_variant,,ENST00000570753,;PHF23,downstream_gene_variant,,ENST00000574899,;DVL2,upstream_gene_variant,,ENST00000576949,;CTD-2545G14.7,downstream_gene_variant,,ENST00000570760,;DVL2,upstream_gene_variant,,ENST00000572285,;GABARAP,downstream_gene_variant,,ENST00000570856,;	604	60	125	SUCCESS
UBE2O	63893	.	GRCh37	17	74387574	74387574	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	40	78	0	ENST00000319380.7:c.3329A>T	p.Gln1110Leu	p.Q1110L	ENST00000319380	NM_022066.3	1110	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32742.1	3329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTGCACC	NONE	.	.	hmmpanther:PTHR24067:SF22,hmmpanther:PTHR24067,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000323687	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000319380	Transcript	.	.	ENSG00000175931	29554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0)	.	UBE2O_HUMAN	UBE2O	HGNC	.	.	UPI000020032F	SNV	UBE2O,missense_variant,p.Gln1110Leu,ENST00000319380,;UBE2O,missense_variant,p.Gln625Leu,ENST00000587127,;SPHK1,downstream_gene_variant,,ENST00000590959,;SPHK1,downstream_gene_variant,,ENST00000392496,;SPHK1,downstream_gene_variant,,ENST00000323374,;SPHK1,downstream_gene_variant,,ENST00000545180,;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,downstream_gene_variant,,ENST00000592299,;SPHK1,downstream_gene_variant,,ENST00000591762,;UBE2O,downstream_gene_variant,,ENST00000586409,;SPHK1,downstream_gene_variant,,ENST00000587167,;	3394	78	166	SUCCESS
RNF213	57674	.	GRCh37	17	78328292	78328292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	25	0	ENST00000582970.1:c.10778A>G	p.Gln3593Arg	p.Q3593R	ENST00000582970	NM_001256071.1	3593	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS58606.1	10778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAAGAAG	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	36/68	.	.	.	.	.	.	.	.	.	36/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Gln3593Arg,ENST00000582970,;RNF213,missense_variant,p.Gln1666Arg,ENST00000336301,;RNF213,missense_variant,p.Gln3642Arg,ENST00000508628,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000572151,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;RNF213,non_coding_transcript_exon_variant,,ENST00000560694,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;	10921	25	80	SUCCESS
ZNF532	55205	.	GRCh37	18	56651549	56651549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772271814	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	83	117	0	ENST00000336078.4:c.3757G>A	p.Glu1253Lys	p.E1253K	ENST00000336078	NM_018181.4	1253	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS11969.1	3757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGAGGAT	NONE	byFrequency	.	hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374	.	.	ENSP00000338217	.	11/11	.	.	.	.	.	.	.	.	rs772271814	11/11	PASS	ENST00000336078	Transcript	.	.	ENSG00000074657	30940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.3)	.	ZN532_HUMAN	ZNF532	HGNC	K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN	.	UPI000013D30C	SNV	ZNF532,missense_variant,p.Glu1253Lys,ENST00000591230,;ZNF532,missense_variant,p.Glu1253Lys,ENST00000591808,;ZNF532,missense_variant,p.Glu1253Lys,ENST00000589288,;ZNF532,missense_variant,p.Glu1253Lys,ENST00000591083,;ZNF532,missense_variant,p.Glu1253Lys,ENST00000336078,;ZNF532,downstream_gene_variant,,ENST00000586997,;ZNF532,non_coding_transcript_exon_variant,,ENST00000588956,;ZNF532,non_coding_transcript_exon_variant,,ENST00000592249,;ZNF532,downstream_gene_variant,,ENST00000589131,;ZNF532,non_coding_transcript_exon_variant,,ENST00000590442,;ZNF532,downstream_gene_variant,,ENST00000586723,;ZNF532,downstream_gene_variant,,ENST00000585662,;	4533	117	217	SUCCESS
CDH7	1005	.	GRCh37	18	63511096	63511096	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	86	93	0	ENST00000323011.3:c.1030G>T	p.Ala344Ser	p.A344S	ENST00000323011	NM_033646.1	344	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11993.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGCAAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381058	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(1)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Ala344Ser,ENST00000397968,;CDH7,missense_variant,p.Ala344Ser,ENST00000536984,;CDH7,missense_variant,p.Ala344Ser,ENST00000323011,;	1456	93	223	SUCCESS
MIR1283-2	100302205	.	GRCh37	19	54261513	54261513	+	mature_miRNA_variant	RNA	SNP	C	C	T	rs971367084	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	87	81	0	ENST00000408621.1:n.28C>T		p.*10*	ENST00000408621				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCGCTTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408621	Transcript	.	.	ENSG00000221548	35361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR1283-2	HGNC	.	.	.	SNV	MIR1283-2,mature_miRNA_variant,,ENST00000408621,;MIR519A2,upstream_gene_variant,,ENST00000597619,;AC011453.1,downstream_gene_variant,,ENST00000583623,;MIR519A2,upstream_gene_variant,,ENST00000384990,;MIR516A2,upstream_gene_variant,,ENST00000384888,;MIR527,downstream_gene_variant,,ENST00000385244,;RNU6-1041P,downstream_gene_variant,,ENST00000516254,;MIR516A1,downstream_gene_variant,,ENST00000385033,;	28	81	242	SUCCESS
TARM1	441864	.	GRCh37	19	54573335	54573335	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749050146	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	37	0	ENST00000432826.1:c.738C>G	p.Ile246Met	p.I246M	ENST00000432826	NM_001135686.1	246	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS46173.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATGATAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11738:SF84,hmmpanther:PTHR11738	.	.	ENSP00000439454	.	5/5	.	.	.	.	.	.	.	.	rs749050146	5/5	PASS	ENST00000432826	Transcript	.	.	ENSG00000248385	37250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	tolerated(0.1)	.	TARM1_HUMAN	TARM1	HGNC	.	.	UPI00004FB5DD	SNV	TARM1,missense_variant,p.Ile246Met,ENST00000432826,;TARM1,missense_variant,p.Ile254Met,ENST00000446034,;	763	37	88	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150532349	150532349	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	20	0	ENST00000271643.4:c.3056C>T	p.Pro1019Leu	p.P1019L	ENST00000271643	NM_019032.4	1019	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS955.1	3056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCCCTGTA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000271643	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.17)	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,missense_variant,p.Pro1019Leu,ENST00000271643,;ADAMTSL4,missense_variant,p.Pro1019Leu,ENST00000369038,;ADAMTSL4,missense_variant,p.Pro1042Leu,ENST00000369039,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;	3292	20	39	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200817808	200817808	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	90	69	0	ENST00000236925.4:c.1944del	p.Ser649LeufsTer24	p.S649Lfs*24	ENST00000236925		648	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS1404.1	1911	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGGACTCTGA	NONE	.	.	hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595	.	.	ENSP00000351684	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	deletion	CAMSAP2,frameshift_variant,p.Ser622LeufsTer24,ENST00000413307,;CAMSAP2,frameshift_variant,p.Ser638LeufsTer24,ENST00000358823,;CAMSAP2,frameshift_variant,p.Ser649LeufsTer24,ENST00000236925,;CAMSAP2,intron_variant,,ENST00000447701,;	2181	69	324	SUCCESS
OBSCN	84033	.	GRCh37	1	228462084	228462084	+	synonymous_variant	Silent	SNP	C	C	T	rs202200633	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	48	76	0	ENST00000422127.1:c.5622C>T	p.Asp1874=	p.D1874=	ENST00000422127	NM_001098623.2	1874	gaC/gaT	0	T:0	.	.	.	.	T	D	protein_coding	YES	CCDS59204.1	6747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACGCAGG	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	T:0.0002	ENSP00000455507	.	23/116	.	.	.	.	.	.	.	.	rs202200633	23/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000359599,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.2,non_coding_transcript_exon_variant,,ENST00000602517,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602947,;	6821	76	110	SUCCESS
OR2B11	127623	.	GRCh37	1	247615077	247615077	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	44	50	0	ENST00000318749.6:c.208del	p.Leu70CysfsTer97	p.L70Cfs*97	ENST00000318749	NM_001004492.1	70	Ctg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS31090.1	208	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGACAGGTGAC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	deletion	OR2B11,frameshift_variant,p.Leu70CysfsTer97,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	232	50	223	SUCCESS
CSMD2	114784	.	GRCh37	1	34174693	34174693	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	56	57	0	ENST00000241312.4:c.3452T>A	p.Leu1151His	p.L1151H	ENST00000241312		1151	cTc/cAc	0	.	.	.	.	.	T	L/H	nonsense_mediated_decay	YES	CCDS380.1	3452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGGACA	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	22/70	.	.	.	.	.	.	.	.	.	22/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Leu1191His,ENST00000373381,;CSMD2,missense_variant,p.Leu64His,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,missense_variant,p.Leu1151His,ENST00000241312,;	3481	57	174	SUCCESS
CYP4A22	284541	.	GRCh37	1	47603268	47603268	+	synonymous_variant	Silent	SNP	C	C	A	rs750711992	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	50	59	0	ENST00000371891.3:c.111C>A	p.Leu37=	p.L37=	ENST00000371891	NM_001010969.2	37	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS30707.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTACCT	NONE	byFrequency	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10	.	.	ENSP00000360958	.	1/12	.	.	.	.	.	.	.	.	rs750711992	1/12	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	SNV	CYP4A22,synonymous_variant,p.%3D,ENST00000371890,;CYP4A22,synonymous_variant,p.%3D,ENST00000294337,;CYP4A22,synonymous_variant,p.%3D,ENST00000371891,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	142	59	187	SUCCESS
FGGY	55277	.	GRCh37	1	60223658	60223658	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	42	0	ENST00000303721.7:c.1568A>G	p.Asp523Gly	p.D523G	ENST00000303721	NM_018291.3	523	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS44155.1	1640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGATAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10196:SF10,hmmpanther:PTHR10196,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000360262	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000371218	Transcript	.	.	ENSG00000172456	25610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.37)	.	FGGY_HUMAN	FGGY	HGNC	J3QKV9_HUMAN,C9J015_HUMAN	.	UPI0000458AF6	SNV	FGGY,missense_variant,p.Asp224Gly,ENST00000371210,;FGGY,missense_variant,p.Asp547Gly,ENST00000371218,;FGGY,missense_variant,p.Asp523Gly,ENST00000303721,;FGGY,missense_variant,p.Asp435Gly,ENST00000371212,;RP4-782L23.2,intron_variant,,ENST00000443012,;FGGY,non_coding_transcript_exon_variant,,ENST00000476939,;FGGY,non_coding_transcript_exon_variant,,ENST00000471169,;FGGY,non_coding_transcript_exon_variant,,ENST00000493891,;FGGY,non_coding_transcript_exon_variant,,ENST00000472783,;FGGY,non_coding_transcript_exon_variant,,ENST00000480847,;	1824	42	88	SUCCESS
ELTD1	0	.	GRCh37	1	79385992	79385992	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	39	0	ENST00000370742.3:c.1337T>C	p.Ile446Thr	p.I446T	ENST00000370742	NM_022159.3	446	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS41352.1	1337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAATGCAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000359778	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Ile446Thr,ENST00000370742,;ELTD1,upstream_gene_variant,,ENST00000401034,;	1401	39	113	SUCCESS
ZNHIT6	54680	.	GRCh37	1	86173940	86173940	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	36	0	ENST00000370574.3:c.28A>C	p.Lys10Gln	p.K10Q	ENST00000370574		10	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS707.1	28	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTTCCCTT	NONE	.	.	hmmpanther:PTHR13483:SF3,hmmpanther:PTHR13483	.	.	ENSP00000359606	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000370574	Transcript	.	.	ENSG00000117174	26089	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	tolerated_low_confidence(0.07)	.	BCD1_HUMAN	ZNHIT6	HGNC	.	.	UPI000006D8D2	SNV	ZNHIT6,missense_variant,p.Lys10Gln,ENST00000431532,;ZNHIT6,missense_variant,p.Lys10Gln,ENST00000370574,;	162	36	45	SUCCESS
CDC7	8317	.	GRCh37	1	91977431	91977431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	283	146	210	0	ENST00000234626.6:c.523C>A	p.His175Asn	p.H175N	ENST00000234626	NM_001134419.1	175	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS734.1	523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTCACCGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF7,hmmpanther:PTHR11909,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000393139	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000428239	Transcript	.	.	ENSG00000097046	1745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CDC7_HUMAN	CDC7	HGNC	B1AMW7_HUMAN	.	UPI0000127400	SNV	CDC7,missense_variant,p.His147Asn,ENST00000430031,;CDC7,missense_variant,p.His175Asn,ENST00000428239,;CDC7,missense_variant,p.His175Asn,ENST00000234626,;CDC7,downstream_gene_variant,,ENST00000426137,;CDC7,upstream_gene_variant,,ENST00000486509,;CDC7,downstream_gene_variant,,ENST00000497611,;	782	210	429	SUCCESS
ELMO2	63916	.	GRCh37	20	44997586	44997586	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	42	59	0	ENST00000290246.6:c.1906T>A	p.Ser636Thr	p.S636T	ENST00000290246	NM_133171.3	636	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS13398.1	1906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGAGAAGG	NONE	.	.	hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF8,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000290246	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000290246	Transcript	.	.	ENSG00000062598	17233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	deleterious(0.01)	.	ELMO2_HUMAN	ELMO2	HGNC	Q7Z5G9_HUMAN,Q5JVZ4_HUMAN,Q5BLP5_HUMAN,F5GZP8_HUMAN	.	UPI000013F6C4	SNV	ELMO2,missense_variant,p.Ser368Thr,ENST00000454865,;ELMO2,missense_variant,p.Ser648Thr,ENST00000439931,;ELMO2,missense_variant,p.Ser548Thr,ENST00000372176,;ELMO2,missense_variant,p.Ser636Thr,ENST00000396391,;ELMO2,missense_variant,p.Ser199Thr,ENST00000452857,;ELMO2,missense_variant,p.Ser453Thr,ENST00000445496,;ELMO2,missense_variant,p.Ser636Thr,ENST00000290246,;ELMO2,missense_variant,p.Ser634Thr,ENST00000352077,;SLC35C2,upstream_gene_variant,,ENST00000543605,;SLC35C2,upstream_gene_variant,,ENST00000372229,;SLC35C2,upstream_gene_variant,,ENST00000243896,;SLC35C2,upstream_gene_variant,,ENST00000372230,;SLC35C2,upstream_gene_variant,,ENST00000317734,;ELMO2,downstream_gene_variant,,ENST00000425546,;SLC35C2,upstream_gene_variant,,ENST00000484188,;ELMO2,downstream_gene_variant,,ENST00000464448,;SLC35C2,upstream_gene_variant,,ENST00000484318,;ELMO2,downstream_gene_variant,,ENST00000462491,;SLC35C2,upstream_gene_variant,,ENST00000481809,;ELMO2,3_prime_UTR_variant,,ENST00000467800,;	2101	59	131	SUCCESS
NELFCD	51497	.	GRCh37	20	57561177	57561177	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	56	71	0	ENST00000602795.1:c.144T>A	p.Asp48Glu	p.D48E	ENST00000602795	NM_198976.2	48	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS13473.2	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGATGATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12144,hmmpanther:PTHR12144:SF0,Pfam_domain:PF04858	.	.	ENSP00000473290	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000602795	Transcript	.	.	ENSG00000101158	15934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.46)	.	.	NELFCD	HGNC	H0UI80_HUMAN	.	UPI0000D4E339	SNV	NELFCD,missense_variant,p.Asp39Glu,ENST00000344018,;NELFCD,missense_variant,p.Asp48Glu,ENST00000602795,;NELFCD,upstream_gene_variant,,ENST00000497935,;NELFCD,missense_variant,p.Asp42Glu,ENST00000460601,;NELFCD,non_coding_transcript_exon_variant,,ENST00000464363,;NELFCD,non_coding_transcript_exon_variant,,ENST00000471621,;NELFCD,non_coding_transcript_exon_variant,,ENST00000482747,;NELFCD,non_coding_transcript_exon_variant,,ENST00000492016,;NELFCD,upstream_gene_variant,,ENST00000478389,;NELFCD,upstream_gene_variant,,ENST00000474543,;NELFCD,upstream_gene_variant,,ENST00000490205,;NELFCD,upstream_gene_variant,,ENST00000477741,;	192	71	124	SUCCESS
SRMS	6725	.	GRCh37	20	62178615	62178615	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149894938	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	26	0	ENST00000217188.1:c.202G>A	p.Gly68Arg	p.G68R	ENST00000217188	NM_080823.2	68	Ggg/Agg	0	T:0.0002	.	.	.	.	T	G/R	protein_coding	YES	CCDS13525.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCGCCAC	BUFFER|p.R65W|c.193C>T|3	byCluster	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF23,hmmpanther:PTHR24418,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	T:0	ENSP00000217188	.	1/8	.	.	.	.	.	.	.	.	rs149894938	1/8	PASS	ENST00000217188	Transcript	.	.	ENSG00000125508	11298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0.02)	.	SRMS_HUMAN	SRMS	HGNC	.	.	UPI000004F1F3	SNV	SRMS,missense_variant,p.Gly68Arg,ENST00000217188,;	243	26	41	SUCCESS
HUNK	30811	.	GRCh37	21	33340695	33340695	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	52	0	ENST00000270112.2:c.1008C>A	p.Asn336Lys	p.N336K	ENST00000270112	NM_014586.1	336	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS13610.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAACAGGTA	NONE	.	.	hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343	.	.	ENSP00000270112	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000270112	Transcript	.	.	ENSG00000142149	13326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	HUNK_HUMAN	HUNK	HGNC	.	.	UPI0000035B66	SNV	HUNK,missense_variant,p.Asn336Lys,ENST00000270112,;HUNK,downstream_gene_variant,,ENST00000430354,;	1368	52	87	SUCCESS
POFUT2	23275	.	GRCh37	21	46707671	46707671	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751974716	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	21	0	ENST00000349485.5:c.116C>T	p.Ala39Val	p.A39V	ENST00000349485	NM_133635.4	39	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13719.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCGCCCCC	NONE	.	.	hmmpanther:PTHR13398	.	.	ENSP00000339613	.	1/9	.	.	.	.	.	.	.	.	rs751974716	1/9	PASS	ENST00000349485	Transcript	.	.	ENSG00000186866	14683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.51)	.	OFUT2_HUMAN	POFUT2	HGNC	B4DNV6_HUMAN	.	UPI000013E77F	SNV	POFUT2,missense_variant,p.Ala39Val,ENST00000349485,;POFUT2,missense_variant,p.Ala39Val,ENST00000331343,;POFUT2,upstream_gene_variant,,ENST00000451615,;BX322557.10,upstream_gene_variant,,ENST00000400362,;BX322557.10,upstream_gene_variant,,ENST00000454115,;POFUT2,non_coding_transcript_exon_variant,,ENST00000493524,;POFUT2,non_coding_transcript_exon_variant,,ENST00000476653,;POFUT2,non_coding_transcript_exon_variant,,ENST00000493811,;POFUT2,non_coding_transcript_exon_variant,,ENST00000468360,;POFUT2,upstream_gene_variant,,ENST00000471540,;POFUT2,missense_variant,p.Ala39Val,ENST00000334538,;	143	21	47	SUCCESS
DEPDC5	9681	.	GRCh37	22	32188763	32188763	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs772872014	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	54	73	0	ENST00000400246.1:c.727C>T	p.Arg243Ter	p.R243*	ENST00000400246		243	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46692.1	727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCGACAG	SITE|p.R243*|c.727C>T|3	.	.	Pfam_domain:PF12257,hmmpanther:PTHR13179	.	.	ENSP00000371546	.	11/42	.	.	.	.	.	.	.	.	rs772872014,COSM260408,COSM3842520,COSM1682216,COSM3842521	11/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,stop_gained,p.Arg243Ter,ENST00000382105,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000266091,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400248,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000382112,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400246,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000382111,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400242,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000535622,;DEPDC5,stop_gained,p.Arg215Ter,ENST00000536766,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400249,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000473802,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000469974,;	797	73	109	SUCCESS
CELSR1	9620	.	GRCh37	22	46931320	46931320	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770314564	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	32	0	ENST00000262738.3:c.1748C>A	p.Pro583His	p.P583H	ENST00000262738	NM_014246.1	583	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS14076.1	1748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGGGTAG	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268	.	.	ENSP00000262738	.	1/35	.	.	.	.	.	.	.	.	rs770314564	1/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	deleterious(0)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Pro583His,ENST00000262738,;CELSR1,missense_variant,p.Pro583His,ENST00000395964,;CELSR1,upstream_gene_variant,,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	1748	32	18	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131674545	131674545	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	77	75	0	ENST00000326016.5:c.-198C>T		p.*66*	ENST00000326016	NM_015320.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCCTCCA	NONE	.	.	.	.	.	ENSP00000316845	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Ala3Val,ENST00000438985,;ARHGEF4,missense_variant,p.Ala679Val,ENST00000409359,;ARHGEF4,5_prime_UTR_variant,,ENST00000392953,;ARHGEF4,5_prime_UTR_variant,,ENST00000326016,;ARHGEF4,5_prime_UTR_variant,,ENST00000428230,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	322	75	178	SUCCESS
LRP1B	53353	.	GRCh37	2	141260598	141260598	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	87	103	0	ENST00000389484.3:c.8596G>A	p.Asp2866Asn	p.D2866N	ENST00000389484	NM_018557.2	2866	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2182.1	8596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCACACT	NONE	.	.	PROSITE_profiles:PS50068,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	54/91	.	.	.	.	.	.	.	.	.	54/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Asp2866Asn,ENST00000389484,;	9568	103	262	SUCCESS
FZD7	8324	.	GRCh37	2	202900125	202900125	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	45	1	ENST00000286201.1:c.755T>C	p.Phe252Ser	p.F252S	ENST00000286201	NM_003507.1	252	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS2351.1	755	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTTCGCCC	NONE	.	.	hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31,Pfam_domain:PF01534	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,missense_variant,p.Phe252Ser,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	816	46	96	SUCCESS
MIR375	494324	.	GRCh37	2	219866423	219866423	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	20	0	ENST00000362103.2:n.9A>G		p.*3*	ENST00000362103				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2430.2	.	RADIA|VARSCANS	.	GCTCGTCGCGG	NONE	.	1145	.	.	.	ENSP00000340776	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,downstream_gene_variant,,ENST00000453220,;CCDC108,downstream_gene_variant,,ENST00000341552,;CCDC108,downstream_gene_variant,,ENST00000441968,;MIR375,non_coding_transcript_exon_variant,,ENST00000362103,;AC097468.4,upstream_gene_variant,,ENST00000441450,;	.	20	29	SUCCESS
PAX3	5077	.	GRCh37	2	223163313	223163313	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758491787	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	25	39	0	ENST00000350526.4:c.22G>T	p.Val8Leu	p.V8L	ENST00000350526	NM_181457.3	8	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS2448.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACAGCGC	NONE	.	.	.	.	.	ENSP00000375921	.	1/10	.	.	.	.	.	.	.	.	rs758491787	1/10	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.2)	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,missense_variant,p.Val8Leu,ENST00000392070,;PAX3,missense_variant,p.Val8Leu,ENST00000336840,;PAX3,missense_variant,p.Val8Leu,ENST00000258387,;PAX3,missense_variant,p.Val8Leu,ENST00000392069,;PAX3,missense_variant,p.Val8Leu,ENST00000344493,;PAX3,missense_variant,p.Val8Leu,ENST00000409551,;PAX3,missense_variant,p.Val8Leu,ENST00000409828,;PAX3,missense_variant,p.Val8Leu,ENST00000350526,;CCDC140,intron_variant,,ENST00000295226,;CCDC140,upstream_gene_variant,,ENST00000440903,;	388	39	80	SUCCESS
COL6A3	1293	.	GRCh37	2	238263564	238263564	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768050320	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	12	0	ENST00000295550.4:c.6605G>A	p.Arg2202Gln	p.R2202Q	ENST00000295550	NM_004369.3	2202	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33412.1	6605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCGGCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83	.	.	ENSP00000295550	.	24/44	.	.	.	.	.	.	.	.	rs768050320,COSM138350	24/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	.	0,1	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Arg2002Gln,ENST00000346358,;COL6A3,missense_variant,p.Arg2001Gln,ENST00000347401,;COL6A3,missense_variant,p.Arg1595Gln,ENST00000472056,;COL6A3,missense_variant,p.Arg1996Gln,ENST00000353578,;COL6A3,missense_variant,p.Arg1996Gln,ENST00000409809,;COL6A3,missense_variant,p.Arg2202Gln,ENST00000295550,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000493475,;	7058	12	58	SUCCESS
MFSD2B	388931	.	GRCh37	2	24240356	24240356	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	54	0	ENST00000406420.3:c.579G>A	p.Leu193=	p.L193=	ENST00000406420	NM_001080473.1	193	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46228.1	579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTGATGGG	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF13347,Gene3D:1.20.1250.20,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF30,Transmembrane_helices:TMhelix	.	.	ENSP00000385527	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000406420	Transcript	.	.	ENSG00000205639	37207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFS2B_HUMAN	MFSD2B	HGNC	.	.	UPI0000DD79F8	SNV	MFSD2B,synonymous_variant,p.%3D,ENST00000338315,;MFSD2B,synonymous_variant,p.%3D,ENST00000406420,;MFSD2B,non_coding_transcript_exon_variant,,ENST00000495018,;MFSD2B,upstream_gene_variant,,ENST00000469562,;	595	54	100	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656836	40656836	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	84	65	0	ENST00000332839.4:c.585A>C	p.Thr195=	p.T195=	ENST00000332839	NM_021097.2	195	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS1806.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTGTCTC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00845	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,synonymous_variant,p.%3D,ENST00000408028,;SLC8A1,synonymous_variant,p.%3D,ENST00000406785,;SLC8A1,synonymous_variant,p.%3D,ENST00000542024,;SLC8A1,synonymous_variant,p.%3D,ENST00000403092,;SLC8A1,synonymous_variant,p.%3D,ENST00000405269,;SLC8A1,synonymous_variant,p.%3D,ENST00000332839,;SLC8A1,synonymous_variant,p.%3D,ENST00000542756,;SLC8A1,synonymous_variant,p.%3D,ENST00000406391,;SLC8A1,synonymous_variant,p.%3D,ENST00000405901,;SLC8A1,synonymous_variant,p.%3D,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,synonymous_variant,p.%3D,ENST00000407929,;	619	65	172	SUCCESS
THADA	63892	.	GRCh37	2	43819171	43819171	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	164	95	0	ENST00000405006.4:c.91G>T	p.Glu31Ter	p.E31*	ENST00000405006	NM_001083953.1	31	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS46268.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCCACAT	NONE	.	.	.	.	.	ENSP00000385995	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,stop_gained,p.Glu31Ter,ENST00000404790,;THADA,stop_gained,p.Glu31Ter,ENST00000402360,;THADA,stop_gained,p.Glu31Ter,ENST00000403856,;THADA,stop_gained,p.Glu31Ter,ENST00000405006,;THADA,stop_gained,p.Glu31Ter,ENST00000405975,;THADA,5_prime_UTR_variant,,ENST00000415080,;THADA,stop_gained,p.Glu31Ter,ENST00000408045,;THADA,stop_gained,p.Glu31Ter,ENST00000398653,;THADA,stop_gained,p.Glu31Ter,ENST00000474159,;	443	95	269	SUCCESS
USP34	9736	.	GRCh37	2	61415443	61415443	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	79	51	0	ENST00000398571.2:c.10435G>C	p.Asp3479His	p.D3479H	ENST00000398571	NM_014709.3	3479	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS42686.1	10435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTCAGACA	NONE	.	.	.	.	.	ENSP00000381577	.	80/80	.	.	.	.	.	.	.	.	.	80/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	deleterious_low_confidence(0.01)	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,missense_variant,p.Asp1156His,ENST00000411912,;USP34,missense_variant,p.Asp357His,ENST00000436269,;USP34,missense_variant,p.Asp3479His,ENST00000398571,;AHSA2,3_prime_UTR_variant,,ENST00000394457,;AHSA2,downstream_gene_variant,,ENST00000410073,;AHSA2,downstream_gene_variant,,ENST00000357022,;AHSA2,downstream_gene_variant,,ENST00000491217,;USP34,downstream_gene_variant,,ENST00000492604,;AHSA2,downstream_gene_variant,,ENST00000489653,;AHSA2,downstream_gene_variant,,ENST00000493628,;USP34,downstream_gene_variant,,ENST00000498268,;USP34,downstream_gene_variant,,ENST00000490552,;USP34,downstream_gene_variant,,ENST00000463046,;AHSA2,downstream_gene_variant,,ENST00000484217,;AHSA2,downstream_gene_variant,,ENST00000487904,;AHSA2,downstream_gene_variant,,ENST00000471542,;	10512	51	143	SUCCESS
ADD2	119	.	GRCh37	2	70923474	70923474	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	266	100	55	0	ENST00000264436.4:c.377T>A	p.Leu126Gln	p.L126Q	ENST00000264436	NM_001617.3	126	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1906.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGGTTC	NONE	.	.	hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672	.	.	ENSP00000264436	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000264436	Transcript	.	.	ENSG00000075340	244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	ADDB_HUMAN	ADD2	HGNC	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN	.	UPI0000125503	SNV	ADD2,missense_variant,p.Leu126Gln,ENST00000413157,;ADD2,missense_variant,p.Leu126Gln,ENST00000264436,;ADD2,missense_variant,p.Leu126Gln,ENST00000425976,;ADD2,missense_variant,p.Leu126Gln,ENST00000456320,;ADD2,missense_variant,p.Leu142Gln,ENST00000430656,;ADD2,missense_variant,p.Leu126Gln,ENST00000415348,;ADD2,missense_variant,p.Leu126Gln,ENST00000522886,;ADD2,missense_variant,p.Leu126Gln,ENST00000407644,;ADD2,missense_variant,p.Leu126Gln,ENST00000355733,;AC007395.3,downstream_gene_variant,,ENST00000457851,;ADD2,missense_variant,p.Leu126Gln,ENST00000403045,;	822	55	366	SUCCESS
EXOC6B	23233	.	GRCh37	2	72727062	72727062	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	274	114	206	0	ENST00000272427.6:c.1207A>T	p.Asn403Tyr	p.N403Y	ENST00000272427	NM_015189.1	403	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS46333.1	1207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTTCTTCA	NONE	.	.	hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3,PIRSF_domain:PIRSF025007	.	.	ENSP00000272427	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000272427	Transcript	.	.	ENSG00000144036	17085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	EXC6B_HUMAN	EXOC6B	HGNC	Q9H8D6_HUMAN	.	UPI000046995C	SNV	EXOC6B,missense_variant,p.Asn403Tyr,ENST00000410104,;EXOC6B,missense_variant,p.Asn403Tyr,ENST00000272427,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000485398,;EXOC6B,upstream_gene_variant,,ENST00000464347,;EXOC6B,3_prime_UTR_variant,,ENST00000410112,;	1338	206	388	SUCCESS
TMEM127	55654	.	GRCh37	2	96919804	96919804	+	synonymous_variant	Silent	SNP	G	G	A	rs912034638	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	50	0	ENST00000258439.3:c.459C>T	p.Leu153=	p.L153=	ENST00000258439	NM_001193304.2	153	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2018.1	459	MUTECT|MUSE	.	AAGATGAGTTC	NONE	.	.	.	.	.	ENSP00000258439	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000258439	Transcript	.	.	ENSG00000135956	26038	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM127_HUMAN	TMEM127	HGNC	C9J4H2_HUMAN	.	UPI000000D96F	SNV	TMEM127,synonymous_variant,p.%3D,ENST00000435268,;TMEM127,synonymous_variant,p.%3D,ENST00000258439,;TMEM127,synonymous_variant,p.%3D,ENST00000432959,;	716	50	112	SUCCESS
TM4SF18	116441	.	GRCh37	3	149051080	149051080	+	synonymous_variant	Silent	SNP	G	G	A	rs1277474447	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	97	81	0	ENST00000296059.2:c.90C>T	p.Phe30=	p.F30=	ENST00000296059	NM_138786.3	30	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS3142.1	90	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGGAAATA	NONE	.	.	hmmpanther:PTHR14198:SF14,hmmpanther:PTHR14198,Pfam_domain:PF05805	.	.	ENSP00000296059	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000296059	Transcript	.	.	ENSG00000163762	25181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T4S18_HUMAN	TM4SF18	HGNC	C9J6Q4_HUMAN	.	UPI000006F129	SNV	TM4SF18,synonymous_variant,p.%3D,ENST00000470080,;TM4SF18,synonymous_variant,p.%3D,ENST00000474754,;TM4SF18,synonymous_variant,p.%3D,ENST00000296059,;RP11-206M11.7,intron_variant,,ENST00000489011,;TM4SF18,non_coding_transcript_exon_variant,,ENST00000468398,;TM4SF18,non_coding_transcript_exon_variant,,ENST00000491182,;	356	81	345	SUCCESS
CAMP	820	.	GRCh37	3	48264925	48264925	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	22	0	ENST00000576243.1:c.-77G>T		p.*26*	ENST00000576243				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2762.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGGTTGG	NONE	.	.	.	.	.	ENSP00000296435	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000296435	Transcript	.	.	ENSG00000164047	1472	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CAMP	HGNC	J3KNB4_HUMAN	.	UPI00005A8CD1	SNV	CAMP,5_prime_UTR_variant,,ENST00000576243,;CAMP,5_prime_UTR_variant,,ENST00000296435,;	89	22	33	SUCCESS
EPHA6	285220	.	GRCh37	3	96706230	96706230	+	synonymous_variant	Silent	SNP	A	A	T	rs762684823	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	54	55	0	ENST00000389672.5:c.507A>T	p.Val169=	p.V169=	ENST00000389672	NM_001080448.2	169	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46876.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTATGTAA	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000374323	.	3/18	.	.	.	.	.	.	.	.	rs762684823	3/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,synonymous_variant,p.%3D,ENST00000506569,;EPHA6,synonymous_variant,p.%3D,ENST00000389672,;EPHA6,synonymous_variant,p.%3D,ENST00000542517,;EPHA6,synonymous_variant,p.%3D,ENST00000470610,;	545	55	151	SUCCESS
SEC24B	10427	.	GRCh37	4	110447421	110447421	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759547349	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	232	16	145	0	ENST00000265175.5:c.2831G>A	p.Arg944His	p.R944H	ENST00000265175	NM_006323.2	944	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47124.1	2831	MUTECT|MUSE	.	TGTCCGTTCTA	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF7,Pfam_domain:PF08033,Superfamily_domains:SSF81995	.	.	ENSP00000265175	.	17/24	.	.	.	.	.	.	.	.	rs759547349,COSM1131307,COSM1131306	17/24	PASS	ENST00000265175	Transcript	.	.	ENSG00000138802	10704	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.979)	.	deleterious(0)	0,1,1	SC24B_HUMAN	SEC24B	HGNC	B4E2E1_HUMAN	.	UPI00004F6ED7	SNV	SEC24B,missense_variant,p.Arg944His,ENST00000265175,;SEC24B,missense_variant,p.Arg974His,ENST00000504968,;SEC24B,missense_variant,p.Arg909His,ENST00000399100,;	2886	145	249	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128977592	128977592	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	80	101	0	ENST00000274487.4:c.1793A>T	p.Glu598Val	p.E598V	ENST00000274487	NM_133638.3	598	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4146.1	1793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGAGAAAG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,SMART_domains:SM00608	.	.	ENSP00000274487	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.06)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Glu598Val,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1938	101	280	SUCCESS
CCNJL	79616	.	GRCh37	5	159682609	159682609	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	84	82	0	ENST00000393977.3:c.834G>A	p.Arg278=	p.R278=	ENST00000393977	NM_024565.5	278	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4350.2	834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCCTCTG	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF63,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000377547	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000393977	Transcript	.	.	ENSG00000135083	25876	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNJL_HUMAN	CCNJL	HGNC	.	.	UPI000020C075	SNV	CCNJL,synonymous_variant,p.%3D,ENST00000257536,;CCNJL,synonymous_variant,p.%3D,ENST00000393977,;CCNJL,synonymous_variant,p.%3D,ENST00000519673,;CCNJL,synonymous_variant,p.%3D,ENST00000541762,;CCNJL,downstream_gene_variant,,ENST00000520748,;CCNJL,non_coding_transcript_exon_variant,,ENST00000377503,;RP11-34P1.2,upstream_gene_variant,,ENST00000522428,;	1120	83	303	SUCCESS
IL6ST	3572	.	GRCh37	5	55247872	55247872	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	109	116	0	ENST00000336909.5:c.1584A>G	p.Lys528=	p.K528=	ENST00000336909		528	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS3971.1	1584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTTTTTGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	SNV	IL6ST,synonymous_variant,p.%3D,ENST00000336909,;IL6ST,synonymous_variant,p.%3D,ENST00000381298,;IL6ST,synonymous_variant,p.%3D,ENST00000381294,;IL6ST,synonymous_variant,p.%3D,ENST00000502326,;IL6ST,3_prime_UTR_variant,,ENST00000522633,;IL6ST,3_prime_UTR_variant,,ENST00000381287,;IL6ST,3_prime_UTR_variant,,ENST00000536319,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,upstream_gene_variant,,ENST00000423954,;IL6ST,3_prime_UTR_variant,,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000583149,;IL6ST,downstream_gene_variant,,ENST00000506241,;IL6ST,upstream_gene_variant,,ENST00000523039,;	1897	116	344	SUCCESS
ADGB	79747	.	GRCh37	6	146977910	146977910	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	74	121	0	ENST00000397944.3:c.406A>C	p.Met136Leu	p.M136L	ENST00000397944	NM_024694.3	136	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	.	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGATGAGA	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000381036	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.625)	.	tolerated(0.11)	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,missense_variant,p.Met136Leu,ENST00000397944,;ADGB,missense_variant,p.Met130Leu,ENST00000522242,;ADGB,5_prime_UTR_variant,,ENST00000367493,;ADGB,upstream_gene_variant,,ENST00000473647,;ADGB,missense_variant,p.Met136Leu,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000522396,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;	482	121	219	SUCCESS
SYNE1	23345	.	GRCh37	6	152676100	152676100	+	synonymous_variant	Silent	SNP	T	T	C	rs1308068026	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	23	0	ENST00000367255.5:c.10620A>G	p.Val3540=	p.V3540=	ENST00000367255	NM_182961.3	3540	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS5236.2	10620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGTACCTG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	67/146	.	.	.	.	.	.	.	.	.	67/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	11222	23	68	SUCCESS
OPRM1	4988	.	GRCh37	6	154331688	154331688	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	27	44	0	ENST00000434900.2:c.-466C>T		p.*156*	ENST00000434900	NM_001145279.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47503.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCCTCCA	NONE	.	.	.	.	.	ENSP00000394624	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Pro14Leu,ENST00000518759,;OPRM1,5_prime_UTR_variant,,ENST00000520708,;OPRM1,5_prime_UTR_variant,,ENST00000520282,;OPRM1,5_prime_UTR_variant,,ENST00000434900,;	53	44	104	SUCCESS
NAA38	84316	.	GRCh37	7	117828373	117828373	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	47	92	0	ENST00000249299.2:c.114G>T	p.Leu38Phe	p.L38F	ENST00000249299	NM_016200.4	38	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS5775.1	114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGGATGA	NONE	.	.	hmmpanther:PTHR15588,Pfam_domain:PF01423,Gene3D:2.30.30.100,SMART_domains:SM00651,Superfamily_domains:SSF50182	.	.	ENSP00000249299	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	SNV	NAA38,missense_variant,p.Leu49Phe,ENST00000411938,;NAA38,missense_variant,p.Leu38Phe,ENST00000249299,;NAA38,missense_variant,p.Leu38Phe,ENST00000424702,;NAA38,missense_variant,p.Leu17Phe,ENST00000422760,;	306	92	144	SUCCESS
C7orf49	0	.	GRCh37	7	134852549	134852549	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	62	0	ENST00000393114.3:c.148A>T	p.Thr50Ser	p.T50S	ENST00000393114		50	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS5838.2	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTCGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14566	.	.	ENSP00000376823	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000393114	Transcript	.	.	ENSG00000122783	22432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.12)	.	MRI_HUMAN	C7orf49	HGNC	.	.	UPI00003742B5	SNV	C7orf49,missense_variant,p.Thr49Ser,ENST00000430372,;C7orf49,missense_variant,p.Thr50Ser,ENST00000393114,;C7orf49,5_prime_UTR_variant,,ENST00000424142,;C7orf49,5_prime_UTR_variant,,ENST00000483029,;TMEM140,downstream_gene_variant,,ENST00000275767,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,non_coding_transcript_exon_variant,,ENST00000477820,;C7orf49,non_coding_transcript_exon_variant,,ENST00000472428,;C7orf49,non_coding_transcript_exon_variant,,ENST00000488161,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,non_coding_transcript_exon_variant,,ENST00000481410,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;	330	62	116	SUCCESS
C7orf49	0	.	GRCh37	7	134852550	134852550	+	synonymous_variant	Silent	SNP	C	C	A	rs748201322	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	61	0	ENST00000393114.3:c.147G>T	p.Ala49=	p.A49=	ENST00000393114		49	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5838.2	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTCGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14566	.	.	ENSP00000376823	.	3/4	.	.	.	.	.	.	.	.	rs748201322,COSM3878312,COSM3878311	3/4	PASS	ENST00000393114	Transcript	.	.	ENSG00000122783	22432	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	MRI_HUMAN	C7orf49	HGNC	.	.	UPI00003742B5	SNV	C7orf49,synonymous_variant,p.%3D,ENST00000430372,;C7orf49,synonymous_variant,p.%3D,ENST00000393114,;C7orf49,5_prime_UTR_variant,,ENST00000424142,;C7orf49,5_prime_UTR_variant,,ENST00000483029,;TMEM140,downstream_gene_variant,,ENST00000275767,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,non_coding_transcript_exon_variant,,ENST00000477820,;C7orf49,non_coding_transcript_exon_variant,,ENST00000472428,;C7orf49,non_coding_transcript_exon_variant,,ENST00000488161,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,non_coding_transcript_exon_variant,,ENST00000481410,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;	329	61	114	SUCCESS
KMT2C	58508	.	GRCh37	7	151833918	151833918	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	11	0	ENST00000262189.6:c.14735G>T	p.Ter4912LeuextTer36	p.*4912Lext*36	ENST00000262189	NM_170606.2	4912	tGa/tTa	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS5931.1	14735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCAGTTC	NONE	.	.	.	.	.	ENSP00000262189	.	59/59	.	.	.	.	.	.	.	.	.	59/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,stop_lost,p.Ter4969LeuextTer36,ENST00000355193,;KMT2C,stop_lost,p.Ter1525LeuextTer36,ENST00000424877,;KMT2C,stop_lost,p.Ter117LeuextTer36,ENST00000485655,;KMT2C,stop_lost,p.Ter4912LeuextTer36,ENST00000262189,;KMT2C,3_prime_UTR_variant,,ENST00000360104,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	14954	11	48	SUCCESS
BRAT1	221927	.	GRCh37	7	2579479	2579479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	15	0	ENST00000340611.4:c.1439G>A	p.Ser480Asn	p.S480N	ENST00000340611	NM_152743.3	480	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS5334.1	1439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCTCAGG	NONE	.	.	hmmpanther:PTHR21331,hmmpanther:PTHR21331:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000339637	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000340611	Transcript	.	.	ENSG00000106009	21701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.41)	.	BRAT1_HUMAN	BRAT1	HGNC	F8WDN5_HUMAN	.	UPI00001AEB20	SNV	BRAT1,missense_variant,p.Ser480Asn,ENST00000340611,;BRAT1,non_coding_transcript_exon_variant,,ENST00000473879,;BRAT1,non_coding_transcript_exon_variant,,ENST00000469750,;BRAT1,non_coding_transcript_exon_variant,,ENST00000493232,;BRAT1,non_coding_transcript_exon_variant,,ENST00000467558,;BRAT1,downstream_gene_variant,,ENST00000421712,;	1696	15	81	SUCCESS
SDK1	221935	.	GRCh37	7	4009044	4009044	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	29	0	ENST00000404826.2:c.1702C>T	p.Leu568Phe	p.L568F	ENST00000404826	NM_152744.3	568	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS34590.1	1702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCTCACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	11/45	.	.	.	.	.	.	.	.	.	11/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Leu568Phe,ENST00000404826,;SDK1,missense_variant,p.Leu568Phe,ENST00000389531,;SDK1,upstream_gene_variant,,ENST00000484011,;	1841	29	64	SUCCESS
SEMA3E	9723	.	GRCh37	7	82997179	82997179	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	80	135	2	ENST00000307792.3:c.2051A>G	p.Lys684Arg	p.K684R	ENST00000307792	NM_012431.2	684	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS34674.1	2051	RADIA|SOMATICSNIPER|VARSCANS	.	CGTCCTTGTTA	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22	.	.	ENSP00000303212	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(1)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Lys624Arg,ENST00000427262,;SEMA3E,missense_variant,p.Lys684Arg,ENST00000307792,;	2519	137	206	SUCCESS
ABCB1	5243	.	GRCh37	7	87179344	87179344	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	41	42	0	ENST00000265724.3:c.1377G>A	p.Arg459=	p.R459=	ENST00000265724	NM_000927.4	459	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5608.1	1377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCCTAAT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000265724	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,synonymous_variant,p.%3D,ENST00000265724,;ABCB1,synonymous_variant,p.%3D,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000482527,;	1795	42	182	SUCCESS
C7orf63	0	.	GRCh37	7	89938655	89938655	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1258914975	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	254	150	264	0	ENST00000389297.4:c.2629A>G	p.Thr877Ala	p.T877A	ENST00000389297	NM_001039706.2	877	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS43613.2	2629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAACACAT	NONE	.	.	hmmpanther:PTHR14716,hmmpanther:PTHR14716:SF0	.	.	ENSP00000373948	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000389297	Transcript	.	.	ENSG00000105792	26107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated(0.07)	.	CG063_HUMAN	C7orf63	HGNC	F8WBX7_HUMAN	.	UPI000066DA29	SNV	C7orf63,missense_variant,p.Thr414Ala,ENST00000449577,;C7orf63,missense_variant,p.Thr106Ala,ENST00000412839,;C7orf63,missense_variant,p.Thr859Ala,ENST00000497910,;C7orf63,missense_variant,p.Thr877Ala,ENST00000389297,;C7orf63,missense_variant,p.Thr831Ala,ENST00000316089,;C7orf63,intron_variant,,ENST00000445156,;AC002064.5,upstream_gene_variant,,ENST00000445784,;C7orf63,non_coding_transcript_exon_variant,,ENST00000475031,;C7orf63,downstream_gene_variant,,ENST00000427396,;C7orf63,downstream_gene_variant,,ENST00000451029,;	2880	264	405	SUCCESS
ZNF572	137209	.	GRCh37	8	125987939	125987939	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	56	98	0	ENST00000319286.5:c.57G>A	p.Glu19=	p.E19=	ENST00000319286	NM_152412.2	19	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS6354.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGAGTTT	NONE	.	.	.	.	.	ENSP00000319305	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000319286	Transcript	.	.	ENSG00000180938	26758	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN572_HUMAN	ZNF572	HGNC	.	.	UPI0000140576	SNV	ZNF572,synonymous_variant,p.%3D,ENST00000319286,;	211	98	253	SUCCESS
SLC39A4	55630	.	GRCh37	8	145639418	145639418	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	52	0	ENST00000301305.3:c.1211T>A	p.Leu404Gln	p.L404Q	ENST00000301305	NM_130849.3	404	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6424.1	1211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCAGGAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF11,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000301305	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000301305	Transcript	1	.	ENSG00000147804	17129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	S39A4_HUMAN	SLC39A4	HGNC	Q9NX22_HUMAN	.	UPI00001AED01	SNV	SLC39A4,missense_variant,p.Leu379Gln,ENST00000276833,;SLC39A4,missense_variant,p.Leu404Gln,ENST00000301305,;CPSF1,upstream_gene_variant,,ENST00000349769,;SLC39A4,downstream_gene_variant,,ENST00000526658,;CPSF1,upstream_gene_variant,,ENST00000531042,;GS1-393G12.14,downstream_gene_variant,,ENST00000607491,;SLC39A4,non_coding_transcript_exon_variant,,ENST00000531789,;SLC39A4,upstream_gene_variant,,ENST00000532718,;SLC39A4,upstream_gene_variant,,ENST00000531013,;SLC39A4,upstream_gene_variant,,ENST00000527148,;SLC39A4,upstream_gene_variant,,ENST00000530807,;SLC39A4,upstream_gene_variant,,ENST00000529462,;	1317	52	134	SUCCESS
PSD3	23362	.	GRCh37	8	18730127	18730127	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	35	53	0	ENST00000440756.2:c.247G>C	p.Ala83Pro	p.A83P	ENST00000440756		83	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS43720.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCTCAC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106	.	.	ENSP00000324127	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000327040	Transcript	.	.	ENSG00000156011	19093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.22)	.	PSD3_HUMAN	PSD3	HGNC	E5RJE4_HUMAN,E5RJ29_HUMAN	.	UPI0000210A46	SNV	PSD3,missense_variant,p.Ala18Pro,ENST00000523619,;PSD3,missense_variant,p.Ala83Pro,ENST00000327040,;PSD3,missense_variant,p.Ala83Pro,ENST00000440756,;	350	53	66	SUCCESS
CHRNB3	1142	.	GRCh37	8	42587132	42587132	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1285336246	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	64	122	0	ENST00000289957.2:c.682G>A	p.Val228Ile	p.V228I	ENST00000289957	NM_000749.3	228	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS6134.1	682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGTCCTG	NONE	.	.	Prints_domain:PR00252,Superfamily_domains:0038932,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945	.	.	ENSP00000289957	.	5/6	.	.	.	.	.	.	.	.	COSM1732288,COSM1552633	5/6	PASS	ENST00000289957	Transcript	.	.	ENSG00000147432	1963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.171)	.	tolerated(0.62)	1,1	ACHB3_HUMAN	CHRNB3	HGNC	.	.	UPI0000125272	SNV	CHRNB3,missense_variant,p.Val228Ile,ENST00000289957,;	810	122	187	SUCCESS
PAPPA	5069	.	GRCh37	9	119115996	119115996	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	91	109	0	ENST00000328252.3:c.4271G>C	p.Gly1424Ala	p.G1424A	ENST00000328252	NM_002581.3	1424	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS6813.1	4271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGGCTCT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000330658	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0.03)	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,missense_variant,p.Gly1424Ala,ENST00000328252,;PAPPA,missense_variant,p.Gly462Ala,ENST00000534838,;	4640	109	248	SUCCESS
MELK	9833	.	GRCh37	9	36630338	36630338	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	53	0	ENST00000298048.2:c.709A>G	p.Ile237Val	p.I237V	ENST00000298048	NM_014791.3	237	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS6606.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCATTCTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343,PROSITE_profiles:PS50011	.	.	ENSP00000298048	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000298048	Transcript	.	.	ENSG00000165304	16870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.45)	.	MELK_HUMAN	MELK	HGNC	A7BG63_HUMAN	.	UPI000004776B	SNV	MELK,missense_variant,p.Ile189Val,ENST00000536860,;MELK,missense_variant,p.Ile106Val,ENST00000536987,;MELK,missense_variant,p.Ile237Val,ENST00000541717,;MELK,missense_variant,p.Ile166Val,ENST00000545008,;MELK,missense_variant,p.Ile205Val,ENST00000543751,;MELK,missense_variant,p.Ile237Val,ENST00000298048,;MELK,missense_variant,p.Ile43Val,ENST00000538311,;MELK,missense_variant,p.Ile166Val,ENST00000536329,;MELK,non_coding_transcript_exon_variant,,ENST00000495529,;MELK,non_coding_transcript_exon_variant,,ENST00000487398,;MELK,non_coding_transcript_exon_variant,,ENST00000480021,;	893	53	108	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43630592	43630592	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs543743372	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	15	0	ENST00000332857.6:c.110G>A	p.Gly37Glu	p.G37E	ENST00000332857	NM_001145196.1	37	gGg/gAg	0	.	A:0	.	A:0	.	T	G/E	protein_coding	YES	CCDS47973.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACCCCAGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	A:0	.	ENSP00000329825	A:0	1/4	.	.	.	.	.	.	.	.	rs543743372,COSM1490045	1/4	PASS	ENST00000332857	Transcript	.	A:0.0002	ENSG00000185775	32006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.019)	A:0.001	tolerated(0.51)	0,1	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,missense_variant,p.Gly37Glu,ENST00000332857,;SPATA31A6,upstream_gene_variant,,ENST00000496386,;	139	15	27	SUCCESS
ARMCX6	54470	.	GRCh37	X	100871412	100871412	+	synonymous_variant	Silent	SNP	G	G	T	rs138992392	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	90	57	0	ENST00000361910.4:c.199C>A	p.Arg67=	p.R67=	ENST00000361910	NM_019007.3	67	Cgg/Agg	0	A:0.0003	.	.	.	.	T	R	protein_coding	YES	CCDS14488.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGAGCCA	NONE	byCluster	.	hmmpanther:PTHR15712:SF6,hmmpanther:PTHR15712	.	A:0	ENSP00000444537	.	4/4	.	.	.	.	.	.	.	.	rs138992392	4/4	PASS	ENST00000539247	Transcript	.	.	ENSG00000198960	26094	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX6_HUMAN	ARMCX6	HGNC	.	.	UPI00001BBFA2	SNV	ARMCX6,synonymous_variant,p.%3D,ENST00000538627,;ARMCX6,synonymous_variant,p.%3D,ENST00000361910,;ARMCX6,synonymous_variant,p.%3D,ENST00000539247,;ARMCX6,non_coding_transcript_exon_variant,,ENST00000467089,;ARMCX6,non_coding_transcript_exon_variant,,ENST00000495964,;ARMCX6,intron_variant,,ENST00000497931,;ARMCX6,intron_variant,,ENST00000462302,;ARMCX6,downstream_gene_variant,,ENST00000494624,;	632	57	107	SUCCESS
MID2	11043	.	GRCh37	X	107169328	107169328	+	synonymous_variant	Silent	SNP	A	A	G	rs150570766	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	85	65	0	ENST00000262843.6:c.1602A>G	p.Gln534=	p.Q534=	ENST00000262843	NM_052817.2	534	caA/caG	0	G:0.017	G:0.0098	.	G:0.0029	.	G	Q	protein_coding	YES	CCDS14532.2	1602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAACCCTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF319,hmmpanther:PTHR24103,Gene3D:2.60.40.10,Superfamily_domains:SSF49899,Prints_domain:PR01407	G:0	G:0.0001	ENSP00000262843	G:0	9/10	.	.	.	.	.	.	.	.	rs150570766	9/10	common_in_exac	ENST00000262843	Transcript	.	G:0.0040	ENSG00000080561	7096	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TRIM1_HUMAN	MID2	HGNC	A6PVI4_HUMAN	.	UPI0000D4F411	SNV	MID2,synonymous_variant,p.%3D,ENST00000262843,;MID2,synonymous_variant,p.%3D,ENST00000443968,;RP6-191P20.4,intron_variant,,ENST00000430140,;MID2,non_coding_transcript_exon_variant,,ENST00000474517,;	2150	65	120	SUCCESS
SNX12	29934	.	GRCh37	X	70281775	70281775	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs778343040	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	54	0	ENST00000374274.3:c.304C>G	p.Leu102Val	p.L102V	ENST00000374274	NM_001256188.1	102	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14405.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGCTGCC	NONE	byFrequency	.	PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF72,hmmpanther:PTHR10555,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000363392	.	3/4	.	.	.	.	.	.	.	.	rs778343040	3/4	PASS	ENST00000374274	Transcript	.	.	ENSG00000147164	14976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	SNX12_HUMAN	SNX12	HGNC	Q3SYF1_HUMAN	.	UPI000000409E	SNV	SNX12,missense_variant,p.Leu98Val,ENST00000276105,;SNX12,missense_variant,p.Leu102Val,ENST00000374274,;SNX12,non_coding_transcript_exon_variant,,ENST00000483560,;SNX12,intron_variant,,ENST00000490561,;SNX12,intron_variant,,ENST00000465030,;	421	54	72	SUCCESS
SORCS3	22986	.	GRCh37	10	106976778	106976778	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs774096241	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	49	56	0	ENST00000369699.4:c.490G>C	p.Gly164Arg	p.G164R	ENST00000369699		164	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS7558.1	2632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGGCATC	NONE	byFrequency	.	PROSITE_profiles:PS50093,hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Pfam_domain:PF00801,Gene3D:2.60.40.670,Superfamily_domains:SSF49299	.	.	ENSP00000358715	.	19/27	.	.	.	.	.	.	.	.	rs774096241	19/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.05)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Gly878Arg,ENST00000369701,;SORCS3,missense_variant,p.Gly164Arg,ENST00000369699,;	2859	56	106	SUCCESS
FANK1	92565	.	GRCh37	10	127684064	127684064	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	292	204	220	0	ENST00000368693.1:c.395G>C	p.Gly132Ala	p.G132A	ENST00000368693		132	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS31309.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGAGGGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24183,hmmpanther:PTHR24183:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000357682	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000368693	Transcript	.	.	ENSG00000203780	23527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	tolerated(0.23)	.	FANK1_HUMAN	FANK1	HGNC	C9JD80_HUMAN,A6NH44_HUMAN	.	UPI000046FFD6	SNV	FANK1,missense_variant,p.Gly126Ala,ENST00000368695,;FANK1,missense_variant,p.Gly132Ala,ENST00000445510,;FANK1,missense_variant,p.Gly27Ala,ENST00000456942,;FANK1,missense_variant,p.Gly132Ala,ENST00000368693,;FANK1,missense_variant,p.Gly132Ala,ENST00000368691,;FANK1,missense_variant,p.Gly132Ala,ENST00000368689,;FANK1,downstream_gene_variant,,ENST00000417114,;FANK1,non_coding_transcript_exon_variant,,ENST00000492670,;FANK1,non_coding_transcript_exon_variant,,ENST00000464130,;	499	220	496	SUCCESS
C10orf90	118611	.	GRCh37	10	128193357	128193357	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199676174	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	33	0	ENST00000284694.7:c.412G>T	p.Ala138Ser	p.A138S	ENST00000284694	NM_001004298.2	138	Gca/Tca	0	.	G:0	.	G:0	.	A	A/S	protein_coding	YES	CCDS31310.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCAAACC	NONE	byCluster|by1000G	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553	G:0.001	.	ENSP00000284694	G:0	3/9	.	.	.	.	.	.	.	.	rs199676174	3/9	PASS	ENST00000284694	Transcript	.	G:0.0002	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	G:0	tolerated(0.27)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Ala91Ser,ENST00000488181,;C10orf90,missense_variant,p.Ala91Ser,ENST00000356858,;C10orf90,missense_variant,p.Ala91Ser,ENST00000392694,;C10orf90,missense_variant,p.Ala138Ser,ENST00000432642,;C10orf90,missense_variant,p.Ala138Ser,ENST00000284694,;C10orf90,missense_variant,p.Ala138Ser,ENST00000454341,;C10orf90,missense_variant,p.Ala235Ser,ENST00000544758,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,downstream_gene_variant,,ENST00000463082,;	533	33	49	SUCCESS
KNDC1	85442	.	GRCh37	10	134981785	134981785	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	20	0	ENST00000304613.3:c.329C>A	p.Pro110His	p.P110H	ENST00000304613		110	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS7674.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCCCGAGT	BUFFER|p.F112F|c.336C>T|3	.	.	SMART_domains:SM00750,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS51377	.	.	ENSP00000304437	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Pro45His,ENST00000368571,;KNDC1,missense_variant,p.Pro110His,ENST00000304613,;KNDC1,missense_variant,p.Pro110His,ENST00000368572,;KNDC1,non_coding_transcript_exon_variant,,ENST00000530127,;KNDC1,non_coding_transcript_exon_variant,,ENST00000485110,;KNDC1,non_coding_transcript_exon_variant,,ENST00000478074,;	350	20	41	SUCCESS
FAM188A	0	.	GRCh37	10	15858832	15858832	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	50	80	0	ENST00000277632.3:c.882+2T>C		p.X294_splice	ENST00000277632	NM_024948.2	294		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7110.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATACCTTG	NONE	.	.	.	.	.	ENSP00000277632	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000277632	Transcript	.	.	ENSG00000148481	23578	.	.	HIGH	10/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F188A_HUMAN	FAM188A	HGNC	.	.	UPI000006E7F1	SNV	FAM188A,splice_donor_variant,,ENST00000436829,;FAM188A,splice_donor_variant,,ENST00000277632,;FAM188A,splice_donor_variant,,ENST00000378036,;FAM188A,splice_donor_variant,,ENST00000418767,;FAM188A,splice_donor_variant,,ENST00000477891,;	.	80	150	SUCCESS
BMI1	648	.	GRCh37	10	22618024	22618024	+	synonymous_variant	Silent	SNP	A	A	G	rs1162912651	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	55	108	0	ENST00000376663.3:c.618A>G	p.Leu206=	p.L206=	ENST00000376663	NM_005180.8	206	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS7138.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTAATGGA	NONE	.	.	hmmpanther:PTHR10825:SF21,hmmpanther:PTHR10825	.	.	ENSP00000365851	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000376663	Transcript	.	.	ENSG00000168283	1066	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMI1_HUMAN	BMI1	HGNC	Q5T8Z6_HUMAN,Q5T8Z4_HUMAN	.	UPI0000126A1D	SNV	BMI1,synonymous_variant,p.%3D,ENST00000443519,;COMMD3-BMI1,synonymous_variant,p.%3D,ENST00000602390,;BMI1,synonymous_variant,p.%3D,ENST00000376663,;BMI1,downstream_gene_variant,,ENST00000442508,;BMI1,downstream_gene_variant,,ENST00000416820,;COMMD3-BMI1,downstream_gene_variant,,ENST00000475460,;COMMD3-BMI1,downstream_gene_variant,,ENST00000489125,;RP11-573G6.9,upstream_gene_variant,,ENST00000606988,;RP11-573G6.8,downstream_gene_variant,,ENST00000607282,;COMMD3-BMI1,downstream_gene_variant,,ENST00000463409,;COMMD3-BMI1,3_prime_UTR_variant,,ENST00000417470,;BMI1,non_coding_transcript_exon_variant,,ENST00000490311,;BMI1,downstream_gene_variant,,ENST00000602524,;BMI1,downstream_gene_variant,,ENST00000496174,;BMI1,downstream_gene_variant,,ENST00000602523,;BMI1,downstream_gene_variant,,ENST00000602358,;COMMD3-BMI1,downstream_gene_variant,,ENST00000602395,;BMI1,downstream_gene_variant,,ENST00000456675,;	1123	108	161	SUCCESS
GPRIN2	9721	.	GRCh37	10	46999358	46999358	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1555019445	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	26	0	ENST00000374314.4:c.478G>A	p.Gly160Ser	p.G160S	ENST00000374314		160	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS31192.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGGTACT	NONE	.	.	hmmpanther:PTHR15718	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,missense_variant,p.Gly160Ser,ENST00000374314,;GPRIN2,missense_variant,p.Gly160Ser,ENST00000374317,;	1433	26	29	SUCCESS
CHAT	1103	.	GRCh37	10	50827803	50827803	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758005278	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	23	0	ENST00000337653.2:c.420G>C	p.Gln140His	p.Q140H	ENST00000337653	NM_020549.4	140	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS7232.1	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGCAGAC	NONE	.	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589,PROSITE_patterns:PS00439,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000337103	.	3/15	.	.	.	.	.	.	.	.	rs758005278	3/15	PASS	ENST00000337653	Transcript	1	.	ENSG00000070748	1912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious(0.04)	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,missense_variant,p.Gln58His,ENST00000395562,;CHAT,missense_variant,p.Gln22His,ENST00000395559,;CHAT,missense_variant,p.Gln22His,ENST00000455728,;CHAT,missense_variant,p.Gln140His,ENST00000337653,;CHAT,missense_variant,p.Gln22His,ENST00000351556,;CHAT,missense_variant,p.Gln22His,ENST00000339797,;CHAT,non_coding_transcript_exon_variant,,ENST00000481336,;CHAT,non_coding_transcript_exon_variant,,ENST00000460699,;CHAT,non_coding_transcript_exon_variant,,ENST00000490270,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	573	23	24	SUCCESS
PRKG1	5592	.	GRCh37	10	52834527	52834527	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	60	87	0	ENST00000373985.1:c.231-78397G>T		p.*77*	ENST00000373985	NM_001098512.2	59		0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7244.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGGCGCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,PIRSF_domain:PIRSF000559	.	.	ENSP00000363092	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.15)	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.Gln59His,ENST00000373980,;PRKG1,intron_variant,,ENST00000401604,;PRKG1,intron_variant,,ENST00000373985,;	594	87	139	SUCCESS
ITIH2	3698	.	GRCh37	10	7773850	7773850	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	38	0	ENST00000358415.4:c.1538del	p.Val513AlafsTer29	p.V513Afs*29	ENST00000358415	NM_002216.2	513	gTc/gc	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS31141.1	1538	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGACGTCACTC	NONE	.	.	hmmpanther:PTHR10338:SF14,hmmpanther:PTHR10338	.	.	ENSP00000351190	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000358415	Transcript	.	.	ENSG00000151655	6167	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITIH2_HUMAN	ITIH2	HGNC	.	.	UPI000036665E	deletion	ITIH2,frameshift_variant,p.Val502AlafsTer29,ENST00000379587,;ITIH2,frameshift_variant,p.Val513AlafsTer29,ENST00000358415,;ITIH2,non_coding_transcript_exon_variant,,ENST00000477751,;	1704	38	83	SUCCESS
ALDH18A1	5832	.	GRCh37	10	97402774	97402774	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	35	0	ENST00000371224.2:c.278G>A	p.Gly93Glu	p.G93E	ENST00000371224	NM_002860.3	93	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS7443.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCCCCAGG	NONE	.	.	hmmpanther:PTHR11063,hmmpanther:PTHR11063:SF8,Gene3D:3.40.1160.10,TIGRFAM_domain:TIGR01092,Pfam_domain:PF00696,PIRSF_domain:PIRSF036429,Superfamily_domains:SSF53633	.	.	ENSP00000360268	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000371224	Transcript	1	.	ENSG00000059573	9722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	P5CS_HUMAN	ALDH18A1	HGNC	.	.	UPI0000131056	SNV	ALDH18A1,missense_variant,p.Gly93Glu,ENST00000371224,;ALDH18A1,missense_variant,p.Gly93Glu,ENST00000371221,;ALDH18A1,non_coding_transcript_exon_variant,,ENST00000483788,;	416	35	70	SUCCESS
TCTN3	26123	.	GRCh37	10	97440367	97440367	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	44	0	ENST00000371217.5:c.1453-1G>A		p.X485_splice	ENST00000371217		485		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31258.2	.	MUTECT|MUSE	.	ATAGCCTGCAG	NONE	.	.	.	.	.	ENSP00000360261	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371217	Transcript	1	.	ENSG00000119977	24519	.	.	HIGH	12/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TCTN3	HGNC	.	.	UPI000004BA6E	SNV	TCTN3,splice_acceptor_variant,,ENST00000265993,;TCTN3,splice_acceptor_variant,,ENST00000430368,;TCTN3,splice_acceptor_variant,,ENST00000371217,;TCTN3,downstream_gene_variant,,ENST00000371209,;	.	44	82	SUCCESS
NCAM1	4684	.	GRCh37	11	113078689	113078689	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	24	0	ENST00000316851.7:c.851G>A	p.Gly284Asp	p.G284D	ENST00000316851	NM_181351.4	284	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	.	1058	MUTECT|VARSCANS	.	GGCTGGCGAGC	NONE	.	.	Prints_domain:PR01838,Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,PROSITE_profiles:PS50835	.	.	ENSP00000474028	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,missense_variant,p.Gly339Asp,ENST00000534015,;NCAM1,missense_variant,p.Gly176Asp,ENST00000533760,;NCAM1,missense_variant,p.Gly353Asp,ENST00000524665,;NCAM1,missense_variant,p.Gly293Asp,ENST00000401611,;NCAM1,missense_variant,p.Gly284Asp,ENST00000316851,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529420,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,intron_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,downstream_gene_variant,,ENST00000529356,;NCAM1,downstream_gene_variant,,ENST00000525973,;	1058	24	49	SUCCESS
USP47	55031	.	GRCh37	11	11964527	11964527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	57	83	0	ENST00000399455.2:c.3019G>T	p.Asp1007Tyr	p.D1007Y	ENST00000399455		1007	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS41619.1	2755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGATACA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF98	.	.	ENSP00000339957	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000339865	Transcript	.	.	ENSG00000170242	20076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	UBP47_HUMAN	USP47	HGNC	.	.	UPI00001F9D69	SNV	USP47,missense_variant,p.Asp1007Tyr,ENST00000399455,;USP47,missense_variant,p.Asp987Tyr,ENST00000527733,;USP47,missense_variant,p.Asp919Tyr,ENST00000339865,;USP47,5_prime_UTR_variant,,ENST00000539466,;USP47,upstream_gene_variant,,ENST00000530041,;USP47,non_coding_transcript_exon_variant,,ENST00000525078,;USP47,non_coding_transcript_exon_variant,,ENST00000531513,;	3518	83	144	SUCCESS
OR10G7	390265	.	GRCh37	11	123909593	123909593	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	210	129	0	ENST00000330487.5:c.116G>T	p.Gly39Val	p.G39V	ENST00000330487	NM_001004463.1	39	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31705.1	116	RADIA|SOMATICSNIPER|VARSCANS	.	GGTTCCCCAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF7,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000329689	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330487	Transcript	.	.	ENSG00000182634	14842	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.242)	.	deleterious(0)	.	O10G7_HUMAN	OR10G7	HGNC	.	.	UPI0000040A84	SNV	OR10G7,missense_variant,p.Gly39Val,ENST00000330487,;	125	130	393	SUCCESS
MUC5B	727897	.	GRCh37	11	1261426	1261426	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	30	0	ENST00000529681.1:c.3791A>G	p.Glu1264Gly	p.E1264G	ENST00000529681	NM_002458.2	1264	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS44515.2	3791	RADIA|VARSCANS	.	CTATGAGGACA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	30/49	.	.	.	.	.	.	.	.	.	30/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Glu1264Gly,ENST00000529681,;MUC5B,missense_variant,p.Glu1267Gly,ENST00000447027,;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	3849	30	33	SUCCESS
MUC5B	727897	.	GRCh37	11	1280240	1280240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	21	0	ENST00000529681.1:c.16662C>A	p.Asp5554Glu	p.D5554E	ENST00000529681	NM_002458.2	5554	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS44515.2	16662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACCCAAC	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000436812	.	44/49	.	.	.	.	.	.	.	.	.	44/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Asp5554Glu,ENST00000529681,;MUC5B,missense_variant,p.Asp99Glu,ENST00000526859,;MUC5B,missense_variant,p.Asp5557Glu,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000527802,;	16720	21	29	SUCCESS
ADAMTS8	11095	.	GRCh37	11	130297694	130297694	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1026709260	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	38	0	ENST00000257359.6:c.488G>A	p.Arg163Gln	p.R163Q	ENST00000257359	NM_007037.4	163	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS41732.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTCGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41	.	.	ENSP00000257359	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000257359	Transcript	.	.	ENSG00000134917	224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.64)	.	ATS8_HUMAN	ADAMTS8	HGNC	.	.	UPI000013CF5D	SNV	ADAMTS8,missense_variant,p.Arg163Gln,ENST00000257359,;	1195	38	52	SUCCESS
NCAPD3	23310	.	GRCh37	11	134073725	134073725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	42	62	1	ENST00000534548.2:c.1292T>C	p.Leu431Pro	p.L431P	ENST00000534548	NM_015261.2	431	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31723.1	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGAGGGTG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222	.	.	ENSP00000433681	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000534548	Transcript	.	.	ENSG00000151503	28952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0.01)	.	CNDD3_HUMAN	NCAPD3	HGNC	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN	.	UPI00001C1EFE	SNV	NCAPD3,missense_variant,p.Leu431Pro,ENST00000534548,;NCAPD3,missense_variant,p.Leu431Pro,ENST00000525964,;NCAPD3,missense_variant,p.Leu431Pro,ENST00000534532,;	1357	63	122	SUCCESS
OSBPL5	114879	.	GRCh37	11	3111131	3111131	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	25	0	ENST00000263650.7:c.2446C>T	p.Gln816Ter	p.Q816*	ENST00000263650	NM_020896.3	816	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS31344.1	2446	RADIA|SOMATICSNIPER|VARSCANS	.	GGCCTGCAGCC	NONE	.	.	.	.	.	ENSP00000263650	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000263650	Transcript	.	.	ENSG00000021762	16392	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OSBL5_HUMAN	OSBPL5	HGNC	H0YCD7_HUMAN,E9PQB4_HUMAN,E9PPQ2_HUMAN,E9PNH0_HUMAN,E9PLN3_HUMAN,E9PJE6_HUMAN,E9PIJ6_HUMAN	.	UPI000000D722	SNV	OSBPL5,stop_gained,p.Gln748Ter,ENST00000389989,;OSBPL5,stop_gained,p.Gln270Ter,ENST00000478260,;OSBPL5,stop_gained,p.Gln447Ter,ENST00000542243,;OSBPL5,stop_gained,p.Gln727Ter,ENST00000525498,;OSBPL5,stop_gained,p.Gln748Ter,ENST00000348039,;OSBPL5,stop_gained,p.Gln816Ter,ENST00000263650,;OSBPL5,stop_gained,p.Gln369Ter,ENST00000534454,;OSBPL5,3_prime_UTR_variant,,ENST00000471998,;OSBPL5,non_coding_transcript_exon_variant,,ENST00000498536,;OSBPL5,downstream_gene_variant,,ENST00000534491,;AC108448.2,upstream_gene_variant,,ENST00000431546,;	2606	26	23	SUCCESS
F2	2147	.	GRCh37	11	46747715	46747715	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	22	0	ENST00000311907.5:c.866A>G	p.Asn289Ser	p.N289S	ENST00000311907	NM_000506.3	289	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31476.1	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAACTATT	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF8,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF001149,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000308541	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000311907	Transcript	.	.	ENSG00000180210	3535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.44)	.	THRB_HUMAN	F2	HGNC	Q8TD58_HUMAN,Q86WA1_HUMAN	.	UPI0000136ECD	SNV	F2,missense_variant,p.Asn289Ser,ENST00000530231,;F2,missense_variant,p.Asn289Ser,ENST00000311907,;F2,missense_variant,p.Asn279Ser,ENST00000442468,;F2,downstream_gene_variant,,ENST00000490274,;	922	22	29	SUCCESS
OR51L1	119682	.	GRCh37	11	5020988	5020988	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	152	145	0	ENST00000321543.1:c.776G>A	p.Gly259Glu	p.G259E	ENST00000321543	NM_001004755.1	259	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS31369.1	776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGGGTGT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,missense_variant,p.Gly259Glu,ENST00000321543,;	776	145	332	SUCCESS
OR52E2	119678	.	GRCh37	11	5079905	5079905	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs547180704	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	31	58	0	ENST00000321522.2:c.953A>T	p.Glu318Val	p.E318V	ENST00000321522	NM_001005164.2	318	gAg/gTg	0	.	G:0	.	G:0.0014	.	A	E/V	protein_coding	YES	CCDS31371.1	953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACTCTTCC	NONE	by1000G	.	.	G:0	.	ENSP00000322088	G:0	1/1	.	.	.	.	.	.	.	.	rs547180704	1/1	PASS	ENST00000321522	Transcript	.	G:0.0002	ENSG00000176787	14769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	G:0	tolerated_low_confidence(0.15)	.	O52E2_HUMAN	OR52E2	HGNC	.	.	UPI0000046AE3	SNV	OR52E2,missense_variant,p.Glu318Val,ENST00000321522,;	953	58	109	SUCCESS
OR52H1	390067	.	GRCh37	11	5566529	5566529	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	76	83	0	ENST00000322653.4:c.225C>A	p.Ala75=	p.A75=	ENST00000322653	NM_001005289.1	75	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31386.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATGGCCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF123,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326259	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322653	Transcript	.	.	ENSG00000181616	15218	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O52H1_HUMAN	OR52H1	HGNC	.	.	UPI0000041EB2	SNV	OR52H1,synonymous_variant,p.%3D,ENST00000322653,;HBG2,intron_variant,,ENST00000380259,;	251	83	201	SUCCESS
SLC22A8	9376	.	GRCh37	11	62761284	62761284	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	50	78	0	ENST00000336232.2:c.1283G>A	p.Cys428Tyr	p.C428Y	ENST00000336232	NM_001184736.1	428	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS8042.1	1283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCAGCTG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	.	.	ENSP00000337335	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,missense_variant,p.Cys305Tyr,ENST00000535878,;SLC22A8,missense_variant,p.Cys428Tyr,ENST00000336232,;SLC22A8,missense_variant,p.Cys428Tyr,ENST00000430500,;SLC22A8,missense_variant,p.Cys428Tyr,ENST00000311438,;SLC22A8,missense_variant,p.Cys337Tyr,ENST00000545207,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000451262,;SLC22A8,downstream_gene_variant,,ENST00000542904,;	1419	78	112	SUCCESS
MACROD1	28992	.	GRCh37	11	63918758	63918758	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	50	0	ENST00000255681.6:c.470T>C	p.Leu157Pro	p.L157P	ENST00000255681	NM_014067.3	157	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8056.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGAGCAGG	NONE	.	.	Superfamily_domains:SSF52949,SMART_domains:SM00506,Gene3D:3.40.220.10,hmmpanther:PTHR11106:SF56,hmmpanther:PTHR11106,PROSITE_profiles:PS51154	.	.	ENSP00000255681	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000255681	Transcript	.	.	ENSG00000133315	29598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	deleterious(0)	.	MACD1_HUMAN	MACROD1	HGNC	.	.	UPI000006E931	SNV	MACROD1,missense_variant,p.Leu157Pro,ENST00000255681,;MACROD1,non_coding_transcript_exon_variant,,ENST00000538595,;MACROD1,non_coding_transcript_exon_variant,,ENST00000542359,;MACROD1,non_coding_transcript_exon_variant,,ENST00000545464,;	537	50	95	SUCCESS
GAL3ST3	89792	.	GRCh37	11	65810799	65810799	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs780509210	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	39	0	ENST00000312006.4:c.475G>T	p.Glu159Ter	p.E159*	ENST00000312006	NM_033036.2	159	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8128.1	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTCGAACA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF06990,Gene3D:3.40.50.300,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF1	.	.	ENSP00000308591	.	3/3	.	.	.	.	.	.	.	.	rs780509210	3/3	PASS	ENST00000312006	Transcript	.	.	ENSG00000175229	24144	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G3ST3_HUMAN	GAL3ST3	HGNC	.	.	UPI0000071842	SNV	GAL3ST3,stop_gained,p.Glu159Ter,ENST00000527878,;GAL3ST3,stop_gained,p.Glu159Ter,ENST00000312006,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	757	39	37	SUCCESS
NPAS4	266743	.	GRCh37	11	66191452	66191452	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	33	0	ENST00000311034.2:c.1091C>T	p.Thr364Ile	p.T364I	ENST00000311034	NM_178864.3	364	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8138.1	1091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACCGCAG	NONE	.	.	hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043	.	.	ENSP00000311196	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000311034	Transcript	.	.	ENSG00000174576	18983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.01)	.	NPAS4_HUMAN	NPAS4	HGNC	.	.	UPI0000074744	SNV	NPAS4,missense_variant,p.Thr364Ile,ENST00000311034,;NPAS4,3_prime_UTR_variant,,ENST00000525148,;NPAS4,downstream_gene_variant,,ENST00000524617,;	1267	33	52	SUCCESS
SYT12	91683	.	GRCh37	11	66807407	66807409	+	frameshift_variant	Frame_Shift_Del	DEL	GGA	GGA	TC	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	GGA	GGA	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	25	0	ENST00000393946.2:c.354_356delinsTC	p.Glu119ArgfsTer19	p.E119Rfs*19	ENST00000393946		118	cgGGAg/cgTCg	0	.	.	.	.	.	TC	RE/RX	protein_coding	YES	CCDS8154.1	354-356	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGGCCGGGAGTTGG	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF181	.	.	ENSP00000377520	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000393946	Transcript	.	.	ENSG00000173227	18381	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT12_HUMAN	SYT12	HGNC	Q8NDM9_HUMAN,E9PNM5_HUMAN	.	UPI00000746CD	substitution	SYT12,frameshift_variant,p.Glu119ArgfsTer19,ENST00000527043,;SYT12,frameshift_variant,p.Glu119ArgfsTer19,ENST00000393946,;SYT12,frameshift_variant,p.Glu119ArgfsTer19,ENST00000525457,;SYT12,downstream_gene_variant,,ENST00000533427,;SYT12,non_coding_transcript_exon_variant,,ENST00000526281,;SYT12,downstream_gene_variant,,ENST00000525149,;	1516-1518	25	60	SUCCESS
NAALAD2	10003	.	GRCh37	11	89924847	89924847	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	44	0	ENST00000534061.1:c.2155A>G	p.Lys719Glu	p.K719E	ENST00000534061	NM_005467.3	719	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS8288.1	2155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAAAGAAA	NONE	.	.	Superfamily_domains:SSF47672,Gene3D:3kasA03,Pfam_domain:PF04253,hmmpanther:PTHR10404:SF38,hmmpanther:PTHR10404	.	.	ENSP00000432481	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000534061	Transcript	.	.	ENSG00000077616	14526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	tolerated(0.06)	.	NALD2_HUMAN	NAALAD2	HGNC	E9PJ53_HUMAN,E9PII2_HUMAN	.	UPI0000031A85	SNV	NAALAD2,missense_variant,p.Lys719Glu,ENST00000534061,;NAALAD2,missense_variant,p.Lys686Glu,ENST00000321955,;NAALAD2,stop_retained_variant,p.%3D,ENST00000375944,;	2385	44	103	SUCCESS
FAT3	120114	.	GRCh37	11	92616349	92616349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	21	0	ENST00000298047.6:c.12727A>G	p.Ser4243Gly	p.S4243G	ENST00000298047		4243	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	.	12727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGAGTGAC	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ser578Gly,ENST00000533797,;FAT3,missense_variant,p.Ser4243Gly,ENST00000298047,;FAT3,missense_variant,p.Ser4243Gly,ENST00000409404,;FAT3,missense_variant,p.Ser4093Gly,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	12744	21	24	SUCCESS
VPS33A	65082	.	GRCh37	12	122745969	122745969	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	53	0	ENST00000267199.4:c.322G>C	p.Asp108His	p.D108H	ENST00000267199	NM_022916.4	108	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS9231.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTCTCG	NONE	.	.	hmmpanther:PTHR11679:SF31,hmmpanther:PTHR11679,Pfam_domain:PF00995,Superfamily_domains:SSF56815	.	.	ENSP00000267199	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000267199	Transcript	.	.	ENSG00000139719	18179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	deleterious(0.01)	.	VP33A_HUMAN	VPS33A	HGNC	Q9H6C4_HUMAN	.	UPI000000D7AA	SNV	VPS33A,missense_variant,p.Asp108His,ENST00000451053,;VPS33A,missense_variant,p.Asp108His,ENST00000267199,;VPS33A,non_coding_transcript_exon_variant,,ENST00000542310,;RP11-512M8.5,missense_variant,p.Asp108His,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;VPS33A,non_coding_transcript_exon_variant,,ENST00000544349,;	435	53	112	SUCCESS
C2CD5	9847	.	GRCh37	12	22606893	22606893	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	75	79	0	ENST00000333957.4:c.2808G>C	p.Gly936=	p.G936=	ENST00000333957	NM_014802.1	936	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS31758.1	2808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTCCCTCC	NONE	.	.	.	.	.	ENSP00000334229	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,synonymous_variant,p.%3D,ENST00000545552,;C2CD5,synonymous_variant,p.%3D,ENST00000333957,;C2CD5,synonymous_variant,p.%3D,ENST00000544930,;C2CD5,synonymous_variant,p.%3D,ENST00000542676,;C2CD5,synonymous_variant,p.%3D,ENST00000446597,;C2CD5,synonymous_variant,p.%3D,ENST00000536386,;C2CD5,synonymous_variant,p.%3D,ENST00000539615,;C2CD5,synonymous_variant,p.%3D,ENST00000396028,;C2CD5,downstream_gene_variant,,ENST00000543888,;	3064	79	213	SUCCESS
PARP11	57097	.	GRCh37	12	3939168	3939168	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	72	112	0	ENST00000228820.4:c.35C>G	p.Ala12Gly	p.A12G	ENST00000228820	NM_020367.4	12	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS8523.2	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGCTTTG	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF10	.	.	ENSP00000228820	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000228820	Transcript	.	.	ENSG00000111224	1186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.39)	.	PAR11_HUMAN	PARP11	HGNC	.	.	UPI0000374D35	SNV	PARP11,missense_variant,p.Ala12Gly,ENST00000228820,;PARP11,missense_variant,p.Ala5Gly,ENST00000397096,;PARP11,5_prime_UTR_variant,,ENST00000447133,;PARP11,5_prime_UTR_variant,,ENST00000450737,;PARP11,5_prime_UTR_variant,,ENST00000427057,;PARP11,missense_variant,p.Ala12Gly,ENST00000453942,;PARP11,missense_variant,p.Ala12Gly,ENST00000458162,;PARP11,missense_variant,p.Ala12Gly,ENST00000416739,;	180	112	165	SUCCESS
CCDC65	85478	.	GRCh37	12	49312509	49312509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	40	85	0	ENST00000320516.4:c.849C>A	p.Ser283Arg	p.S283R	ENST00000320516	NM_033124.4	283	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS8772.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCGTGA	NONE	.	.	hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF0	.	.	ENSP00000312706	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000320516	Transcript	.	.	ENSG00000139537	29937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	tolerated(0.43)	.	CCD65_HUMAN	CCDC65	HGNC	B4DXQ7_HUMAN	.	UPI00001408DA	SNV	CCDC65,missense_variant,p.Ser180Arg,ENST00000552942,;CCDC65,missense_variant,p.Ser283Arg,ENST00000320516,;CCDC65,missense_variant,p.Ser283Arg,ENST00000266984,;RP11-302B13.5,intron_variant,,ENST00000398092,;FKBP11,downstream_gene_variant,,ENST00000552878,;AC073610.5,downstream_gene_variant,,ENST00000537495,;FKBP11,downstream_gene_variant,,ENST00000453172,;FKBP11,downstream_gene_variant,,ENST00000444214,;FKBP11,downstream_gene_variant,,ENST00000550765,;CCDC65,3_prime_UTR_variant,,ENST00000547861,;CCDC65,non_coding_transcript_exon_variant,,ENST00000552188,;FKBP11,downstream_gene_variant,,ENST00000546671,;FKBP11,downstream_gene_variant,,ENST00000551694,;FKBP11,downstream_gene_variant,,ENST00000546847,;FKBP11,downstream_gene_variant,,ENST00000551094,;FKBP11,downstream_gene_variant,,ENST00000256680,;FKBP11,downstream_gene_variant,,ENST00000553027,;	1037	85	94	SUCCESS
KMT2D	8085	.	GRCh37	12	49449093	49449100	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCTGGC	CTTCTGGC	-	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	CTTCTGGC	CTTCTGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	53	0	ENST00000301067.7:c.8_15del	p.Ser3ThrfsTer4	p.S3Tfs*4	ENST00000301067	NM_003482.3	3	aGCCAGAAG/a	0	.	.	.	.	.	-	SQK/X	protein_coding	YES	CCDS44873.1	8-15	INDELOCATOR*|PINDEL	.	AGCCAGCTTCTGGCTGTCC	NONE	.	.	.	.	.	ENSP00000301067	.	1/54	.	.	.	.	.	.	.	.	.	1/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	deletion	KMT2D,frameshift_variant,p.Ser3ThrfsTer4,ENST00000547610,;KMT2D,frameshift_variant,p.Ser3ThrfsTer4,ENST00000301067,;	8-15	53	25	SUCCESS
MFSD5	84975	.	GRCh37	12	53647509	53647509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	49	0	ENST00000329548.4:c.890C>A	p.Ser297Tyr	p.S297Y	ENST00000329548	NM_032889.4	297	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS53796.1	1211	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCCCTGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24003:SF500,hmmpanther:PTHR24003,Gene3D:1.20.1250.20,Pfam_domain:PF05631,Superfamily_domains:SSF103473	.	.	ENSP00000442688	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000534842	Transcript	.	.	ENSG00000182544	28156	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	MFSD5_HUMAN	MFSD5	HGNC	F8VV69_HUMAN	.	UPI0000EE2648	SNV	MFSD5,missense_variant,p.Ser297Tyr,ENST00000329548,;MFSD5,missense_variant,p.Ser404Tyr,ENST00000534842,;MFSD5,missense_variant,p.Ser404Tyr,ENST00000551660,;MFSD5,downstream_gene_variant,,ENST00000546655,;MFSD5,downstream_gene_variant,,ENST00000552097,;	1358	49	117	SUCCESS
IRAK3	11213	.	GRCh37	12	66641584	66641584	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745862579	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	89	169	0	ENST00000261233.4:c.1424C>A	p.Pro475Gln	p.P475Q	ENST00000261233	NM_007199.2	475	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS8975.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACCAAGTA	NONE	.	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7	.	.	ENSP00000261233	.	12/12	.	.	.	.	.	.	.	.	rs745862579	12/12	PASS	ENST00000261233	Transcript	.	.	ENSG00000090376	17020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.04)	.	IRAK3_HUMAN	IRAK3	HGNC	.	.	UPI000013D14A	SNV	IRAK3,missense_variant,p.Pro475Gln,ENST00000261233,;IRAK3,missense_variant,p.Pro414Gln,ENST00000457197,;RP11-335I12.2,downstream_gene_variant,,ENST00000536412,;	1845	169	253	SUCCESS
CHD4	1108	.	GRCh37	12	6710565	6710565	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	40	0	ENST00000357008.2:c.689C>T	p.Ala230Val	p.A230V	ENST00000357008	NM_001273.2	230	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8552.1	689	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCTGCCGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554	.	.	ENSP00000349508	.	6/40	.	.	.	.	.	.	.	.	.	6/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.739)	.	tolerated(0.61)	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,missense_variant,p.Ala223Val,ENST00000544040,;CHD4,missense_variant,p.Ala227Val,ENST00000544484,;CHD4,missense_variant,p.Ala230Val,ENST00000309577,;CHD4,missense_variant,p.Ala230Val,ENST00000357008,;CHD4,missense_variant,p.Ala230Val,ENST00000545942,;CHD4,downstream_gene_variant,,ENST00000545584,;CHD4,upstream_gene_variant,,ENST00000536999,;CHD4,upstream_gene_variant,,ENST00000535810,;CHD4,downstream_gene_variant,,ENST00000430771,;	853	40	46	SUCCESS
PTPRR	5801	.	GRCh37	12	71139795	71139795	+	synonymous_variant	Silent	SNP	G	G	A	rs769263760	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	377	246	270	0	ENST00000283228.2:c.810C>T	p.His270=	p.H270=	ENST00000283228	NM_002849.3	270	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS8998.1	810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAGGTGGAT	NONE	byFrequency	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,PIRSF_domain:PIRSF001997	.	.	ENSP00000283228	.	6/14	.	.	.	.	.	.	.	.	rs769263760	6/14	PASS	ENST00000283228	Transcript	.	.	ENSG00000153233	9680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRR_HUMAN	PTPRR	HGNC	Q68CP6_HUMAN,F8VVE9_HUMAN	.	UPI000013DD2F	SNV	PTPRR,synonymous_variant,p.%3D,ENST00000342084,;PTPRR,synonymous_variant,p.%3D,ENST00000550661,;PTPRR,synonymous_variant,p.%3D,ENST00000440835,;PTPRR,synonymous_variant,p.%3D,ENST00000378778,;PTPRR,synonymous_variant,p.%3D,ENST00000283228,;PTPRR,synonymous_variant,p.%3D,ENST00000549308,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,5_prime_UTR_variant,,ENST00000551219,;	1263	270	624	SUCCESS
PLEKHG7	440107	.	GRCh37	12	93148009	93148009	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	54	0	ENST00000344636.3:c.459C>G	p.Tyr153Ter	p.Y153*	ENST00000344636	NM_001004330.2	153	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS31873.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACTCCAT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF8,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000344961	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000344636	Transcript	.	.	ENSG00000187510	33829	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHG7_HUMAN	PLEKHG7	HGNC	.	.	UPI00001C1015	SNV	PLEKHG7,stop_gained,p.Tyr153Ter,ENST00000344636,;PLEKHG7,downstream_gene_variant,,ENST00000549856,;	643	54	96	SUCCESS
C12orf55	0	.	GRCh37	12	97051774	97051774	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	77	70	0	ENST00000524981.4:c.5215G>T	p.Asp1739Tyr	p.D1739Y	ENST00000524981		1739	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	5215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGATTTG	NONE	.	.	.	.	.	ENSP00000431759	.	37/68	.	.	.	.	.	.	.	.	.	37/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Asp1739Tyr,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	5238	70	168	SUCCESS
TMPO	7112	.	GRCh37	12	98938128	98938128	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	48	59	0	ENST00000548223.1:n.148+1G>C		p.X50_splice	ENST00000548223		50		0	.	.	.	.	.	C	.	protein_coding	.	CCDS31879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGTGATG	NONE	.	.	.	.	.	ENSP00000450627	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000556029	Transcript	.	.	ENSG00000120802	11875	.	.	HIGH	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAP2B_HUMAN	TMPO	HGNC	Q9P1N8_HUMAN	.	UPI0000143267	SNV	TMPO,splice_donor_variant,,ENST00000556029,;TMPO,intron_variant,,ENST00000393053,;TMPO,intron_variant,,ENST00000343315,;TMPO,intron_variant,,ENST00000556678,;TMPO,splice_donor_variant,,ENST00000548223,;TMPO,upstream_gene_variant,,ENST00000551987,;	.	59	133	SUCCESS
SACS	26278	.	GRCh37	13	23905027	23905027	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	229	13	126	0	ENST00000382292.3:c.12988A>G	p.Arg4330Gly	p.R4330G	ENST00000382292		4330	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS9300.2	12988	MUTECT|MUSE	.	CCGCCTAATAA	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600,Gene3D:1.10.287.110,Superfamily_domains:SSF46565	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.977)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Arg4330Gly,ENST00000382292,;SACS,missense_variant,p.Arg3580Gly,ENST00000402364,;SACS,missense_variant,p.Arg4330Gly,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	13577	126	242	SUCCESS
SOHLH2	54937	.	GRCh37	13	36776092	36776092	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	48	53	0	ENST00000379881.3:c.187T>C	p.Cys63Arg	p.C63R	ENST00000379881	NM_017826.2	63	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS55896.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGCAATCAT	NONE	.	.	hmmpanther:PTHR16223:SF16,hmmpanther:PTHR16223	.	.	ENSP00000451542	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000554962	Transcript	.	.	ENSG00000120669	26026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.34)	.	SOLH2_HUMAN	SOHLH2	HGNC	.	.	UPI00017A803A	SNV	SOHLH2,missense_variant,p.Cys63Arg,ENST00000379881,;CCDC169-SOHLH2,missense_variant,p.Cys140Arg,ENST00000511166,;SOHLH2,missense_variant,p.Cys140Arg,ENST00000554962,;SOHLH2,missense_variant,p.Cys63Arg,ENST00000317764,;	720	53	130	SUCCESS
SLITRK1	114798	.	GRCh37	13	84456023	84456023	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	33	0	ENST00000377084.2:c.-381C>T		p.*127*	ENST00000377084	NM_052910.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9464.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGATCAG	NONE	.	.	.	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,5_prime_UTR_variant,,ENST00000377084,;	506	33	30	SUCCESS
NUDT14	256281	.	GRCh37	14	105643003	105643004	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	21	0	ENST00000392568.2:c.295dup	p.Val99GlyfsTer4	p.V99Gfs*4	ENST00000392568	NM_177533.4	99	gtg/gGtg	0	.	.	.	.	.	C	V/GX	protein_coding	YES	CCDS10000.1	295-296	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTCACCCCC	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR11839,Gene3D:3.90.79.10,TIGRFAM_domain:TIGR00052,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000376349	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000392568	Transcript	.	.	ENSG00000183828	20141	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NUD14_HUMAN	NUDT14	HGNC	.	.	UPI000000D730	insertion	NUDT14,frameshift_variant,p.Val99GlyfsTer4,ENST00000392568,;RP11-44N21.4,intron_variant,,ENST00000548203,;NUDT14,upstream_gene_variant,,ENST00000550912,;NUDT14,non_coding_transcript_exon_variant,,ENST00000339418,;NUDT14,non_coding_transcript_exon_variant,,ENST00000550002,;NUDT14,non_coding_transcript_exon_variant,,ENST00000551024,;NUDT14,downstream_gene_variant,,ENST00000546553,;	389-390	21	30	SUCCESS
ARHGEF40	55701	.	GRCh37	14	21543017	21543017	+	synonymous_variant	Silent	SNP	C	C	G	rs1054121927	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	17	31	0	ENST00000298694.4:c.1128C>G	p.Gly376=	p.G376=	ENST00000298694	NM_001278529.1	376	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32041.1	1128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCAAAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	.	.	ENSP00000298694	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000298694	Transcript	.	.	ENSG00000165801	25516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARH40_HUMAN	ARHGEF40	HGNC	.	.	UPI00001FCFB7	SNV	ARHGEF40,synonymous_variant,p.%3D,ENST00000555038,;ARHGEF40,synonymous_variant,p.%3D,ENST00000298694,;ARHGEF40,synonymous_variant,p.%3D,ENST00000298693,;NDRG2,upstream_gene_variant,,ENST00000403829,;ARHGEF40,synonymous_variant,p.%3D,ENST00000556399,;ARHGEF40,synonymous_variant,p.%3D,ENST00000553709,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555052,;ARHGEF40,intron_variant,,ENST00000555232,;	1255	31	30	SUCCESS
SLC7A8	23428	.	GRCh37	14	23623535	23623535	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	16	0	ENST00000316902.7:c.508+10959G>A		p.*170*	ENST00000316902	NM_012244.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9590.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCTCCAG	NONE	.	.	.	.	.	ENSP00000320378	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316902	Transcript	.	.	ENSG00000092068	11066	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAT2_HUMAN	SLC7A8	HGNC	E9PQT4_HUMAN,E9PIC3_HUMAN,B3KSX4_HUMAN	.	UPI000012E235	SNV	SLC7A8,5_prime_UTR_variant,,ENST00000422941,;SLC7A8,5_prime_UTR_variant,,ENST00000453702,;SLC7A8,intron_variant,,ENST00000529705,;SLC7A8,intron_variant,,ENST00000316902,;SLC7A8,intron_variant,,ENST00000469263,;RNU6-1138P,downstream_gene_variant,,ENST00000365359,;SLC7A8,5_prime_UTR_variant,,ENST00000528860,;SLC7A8,intron_variant,,ENST00000339733,;	.	16	63	SUCCESS
NID2	22795	.	GRCh37	14	52509060	52509060	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	33	21	0	ENST00000216286.5:c.1588C>A	p.His530Asn	p.H530N	ENST00000216286	NM_007361.3	530	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS9706.1	1588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTGAGGTG	NONE	.	.	PROSITE_profiles:PS50993,Gene3D:2.40.155.10,Pfam_domain:PF07474,SMART_domains:SM00682,Superfamily_domains:SSF54511	.	.	ENSP00000216286	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	deleterious(0.04)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.His477Asn,ENST00000541773,;NID2,missense_variant,p.His530Asn,ENST00000216286,;NID2,upstream_gene_variant,,ENST00000556572,;NID2,upstream_gene_variant,,ENST00000554284,;	1588	21	64	SUCCESS
STON2	85439	.	GRCh37	14	81862242	81862242	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	48	44	0	ENST00000267540.2:c.369G>C	p.Glu123Asp	p.E123D	ENST00000267540	NM_033104.3	123	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS58332.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCTCAGC	NONE	.	.	PIRSF_domain:PIRSF037099,Pfam_domain:PF12016,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19	.	.	ENSP00000450857	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000555447	Transcript	.	.	ENSG00000140022	30652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated_low_confidence(0.49)	.	STON2_HUMAN	STON2	HGNC	G3V322_HUMAN	.	UPI00001FD96B	SNV	STON2,missense_variant,p.Glu123Asp,ENST00000267540,;STON2,missense_variant,p.Glu123Asp,ENST00000555447,;STON2,downstream_gene_variant,,ENST00000554710,;STON2,downstream_gene_variant,,ENST00000557055,;STON2,non_coding_transcript_exon_variant,,ENST00000555226,;	782	45	114	SUCCESS
GNB5	10681	.	GRCh37	15	52418147	52418147	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	74	68	0	ENST00000261837.7:c.1007G>T	p.Ser336Ile	p.S336I	ENST00000261837	NM_016194.3	336	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS10149.1	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCACTGAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Superfamily_domains:SSF50978	.	.	ENSP00000261837	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000261837	Transcript	.	.	ENSG00000069966	4401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	GBB5_HUMAN	GNB5	HGNC	H0YLU1_HUMAN	.	UPI000006E214	SNV	GNB5,missense_variant,p.Ser294Ile,ENST00000358784,;GNB5,missense_variant,p.Ser224Ile,ENST00000396335,;GNB5,missense_variant,p.Ser336Ile,ENST00000261837,;CTD-2184D3.6,downstream_gene_variant,,ENST00000559825,;CTD-2184D3.7,intron_variant,,ENST00000557898,;GNB5,splice_region_variant,,ENST00000559348,;GNB5,splice_region_variant,,ENST00000559541,;GNB5,splice_region_variant,,ENST00000558519,;GNB5,splice_region_variant,,ENST00000557936,;GNB5,non_coding_transcript_exon_variant,,ENST00000560085,;	1073	68	197	SUCCESS
ATF7IP2	80063	.	GRCh37	16	10574815	10574815	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	44	0	ENST00000356427.2:c.1629A>G	p.Ala543=	p.A543=	ENST00000356427		543	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS10540.1	1629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCAGTCCA	NONE	.	.	hmmpanther:PTHR23210:SF6,hmmpanther:PTHR23210	.	.	ENSP00000379808	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000396560	Transcript	.	.	ENSG00000166669	20397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCAF2_HUMAN	ATF7IP2	HGNC	H3BUP1_HUMAN,H3BR07_HUMAN,H3BPC9_HUMAN,H3BNE6_HUMAN,B4DKH3_HUMAN	.	UPI00001FEDD8	SNV	ATF7IP2,missense_variant,p.Gln521Arg,ENST00000396559,;ATF7IP2,missense_variant,p.Gln521Arg,ENST00000324570,;ATF7IP2,synonymous_variant,p.%3D,ENST00000396560,;ATF7IP2,synonymous_variant,p.%3D,ENST00000543967,;ATF7IP2,synonymous_variant,p.%3D,ENST00000356427,;ATF7IP2,3_prime_UTR_variant,,ENST00000535850,;ATF7IP2,3_prime_UTR_variant,,ENST00000568027,;ATF7IP2,non_coding_transcript_exon_variant,,ENST00000565450,;	1856	44	74	SUCCESS
SRCAP	10847	.	GRCh37	16	30724538	30724538	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	44	48	0	ENST00000262518.4:c.2140A>T	p.Lys714Ter	p.K714*	ENST00000262518	NM_006662.2	714	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS10689.2	2140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAAGCCC	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000262518	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,stop_gained,p.Lys714Ter,ENST00000262518,;SRCAP,stop_gained,p.Lys714Ter,ENST00000344771,;SRCAP,stop_gained,p.Lys714Ter,ENST00000395059,;SNORA30,downstream_gene_variant,,ENST00000384028,;SRCAP,stop_gained,p.Lys695Ter,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	2525	48	115	SUCCESS
SRCAP	10847	.	GRCh37	16	30724539	30724539	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	45	48	0	ENST00000262518.4:c.2141A>G	p.Lys714Arg	p.K714R	ENST00000262518	NM_006662.2	714	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS10689.2	2141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAAGCCCA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000262518	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Lys714Arg,ENST00000262518,;SRCAP,missense_variant,p.Lys714Arg,ENST00000344771,;SRCAP,missense_variant,p.Lys714Arg,ENST00000395059,;SNORA30,downstream_gene_variant,,ENST00000384028,;SRCAP,missense_variant,p.Lys695Arg,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	2526	49	114	SUCCESS
TBC1D26	353149	.	GRCh37	17	15642108	15642108	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	90	160	0	ENST00000469477.2:c.461A>G	p.Gln154Arg	p.Q154R	ENST00000469477		154	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS42265.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGAAAC	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF242,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000410111	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000437605	Transcript	.	.	ENSG00000214946	28745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	tolerated(1)	.	TBC26_HUMAN	TBC1D26	HGNC	J3QQK9_HUMAN,J3QLL4_HUMAN	.	UPI0000246DD7	SNV	TBC1D26,missense_variant,p.Gln154Arg,ENST00000437605,;TBC1D26,missense_variant,p.Gln154Arg,ENST00000579428,;TBC1D26,downstream_gene_variant,,ENST00000584301,;ZNF286A,downstream_gene_variant,,ENST00000593105,;TBC1D26,downstream_gene_variant,,ENST00000580596,;TBC1D26,downstream_gene_variant,,ENST00000464963,;TBC1D26,downstream_gene_variant,,ENST00000578506,;AC005324.6,splice_region_variant,,ENST00000433873,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,downstream_gene_variant,,ENST00000580194,;ZNF286A,downstream_gene_variant,,ENST00000583675,;TBC1D26,downstream_gene_variant,,ENST00000583620,;TBC1D26,downstream_gene_variant,,ENST00000582140,;ZNF286A,downstream_gene_variant,,ENST00000585171,;TBC1D26,downstream_gene_variant,,ENST00000582534,;TBC1D26,missense_variant,p.Gln154Arg,ENST00000469477,;ZNF286A,3_prime_UTR_variant,,ENST00000413242,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000580970,;ZNF286A,downstream_gene_variant,,ENST00000412988,;	711	161	162	SUCCESS
MAPK7	5598	.	GRCh37	17	19285441	19285441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	41	97	1	ENST00000308406.5:c.1825C>T	p.Pro609Ser	p.P609S	ENST00000308406	NM_139033.2	609	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11206.1	1825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCTGTA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000311005	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.84)	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,missense_variant,p.Pro609Ser,ENST00000395602,;MAPK7,missense_variant,p.Pro609Ser,ENST00000395604,;MAPK7,missense_variant,p.Pro609Ser,ENST00000308406,;MAPK7,missense_variant,p.Pro470Ser,ENST00000299612,;MFAP4,downstream_gene_variant,,ENST00000395592,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;MAPK7,downstream_gene_variant,,ENST00000573417,;B9D1,upstream_gene_variant,,ENST00000468679,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000572716,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572853,;	2211	98	113	SUCCESS
ATAD5	79915	.	GRCh37	17	29162318	29162318	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	49	99	0	ENST00000321990.4:c.1219T>C	p.Phe407Leu	p.F407L	ENST00000321990	NM_024857.3	407	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11260.1	1219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCATTTAGG	NONE	.	.	hmmpanther:PTHR15828:SF1,hmmpanther:PTHR15828	.	.	ENSP00000313171	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000321990	Transcript	.	.	ENSG00000176208	25752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious(0)	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,missense_variant,p.Phe407Leu,ENST00000321990,;CTD-2349P21.11,intron_variant,,ENST00000580873,;ATAD5,missense_variant,p.Phe407Leu,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;CTD-2349P21.1,downstream_gene_variant,,ENST00000490847,;	1597	99	141	SUCCESS
IGFBP4	3487	.	GRCh37	17	38600272	38600272	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777867036	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	16	0	ENST00000269593.4:c.285C>A	p.His95Gln	p.H95Q	ENST00000269593	NM_001552.2	95	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS11367.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCACGGGCA	NONE	.	.	PROSITE_profiles:PS51323,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF7,Gene3D:4.10.40.20,SMART_domains:SM00121,Superfamily_domains:SSF57184,Prints_domain:PR01980,Prints_domain:PR01976	.	.	ENSP00000269593	.	1/4	.	.	.	.	.	.	.	.	rs777867036	1/4	PASS	ENST00000269593	Transcript	.	.	ENSG00000141753	5473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	tolerated(0.28)	.	IBP4_HUMAN	IGFBP4	HGNC	B4E351_HUMAN	.	UPI0000035977	SNV	IGFBP4,missense_variant,p.His95Gln,ENST00000269593,;IGFBP4,splice_region_variant,,ENST00000542955,;RP11-58O9.1,upstream_gene_variant,,ENST00000491601,;	560	16	23	SUCCESS
KRT42P	284116	.	GRCh37	17	39785337	39785337	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	10	0	ENST00000398469.1:n.1482C>A		p.*494*	ENST00000398469				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11402.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGAACCA	NONE	.	4508	.	.	.	ENSP00000308452	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311208	Transcript	.	.	ENSG00000128422	6427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C17_HUMAN	KRT17	HGNC	K7ESE1_HUMAN,B4E2P9_HUMAN	.	UPI0000148FD6	SNV	JUP,intron_variant,,ENST00000540235,;KRT17,upstream_gene_variant,,ENST00000577817,;KRT17,upstream_gene_variant,,ENST00000311208,;KRT17,upstream_gene_variant,,ENST00000463128,;KRT42P,non_coding_transcript_exon_variant,,ENST00000398469,;KRT42P,non_coding_transcript_exon_variant,,ENST00000438131,;KRT42P,downstream_gene_variant,,ENST00000587390,;KRT42P,downstream_gene_variant,,ENST00000589633,;KRT42P,upstream_gene_variant,,ENST00000587335,;KRT17,upstream_gene_variant,,ENST00000491673,;KRT17,upstream_gene_variant,,ENST00000493253,;KRT42P,non_coding_transcript_exon_variant,,ENST00000458343,;	.	10	18	SUCCESS
ADAM11	4185	.	GRCh37	17	42855379	42855379	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772071092	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	35	0	ENST00000200557.6:c.2130T>A	p.Ser710Arg	p.S710R	ENST00000200557	NM_002390.4	710	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS11486.1	2130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTATCCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR11905:SF114,hmmpanther:PTHR11905,Gene3D:2.10.25.10	.	.	ENSP00000200557	.	24/27	.	.	.	.	.	.	.	.	rs772071092	24/27	PASS	ENST00000200557	Transcript	.	.	ENSG00000073670	189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	ADA11_HUMAN	ADAM11	HGNC	.	.	UPI000013C629	SNV	ADAM11,missense_variant,p.Ser510Arg,ENST00000535346,;ADAM11,missense_variant,p.Ser710Arg,ENST00000200557,;ADAM11,3_prime_UTR_variant,,ENST00000587773,;ADAM11,3_prime_UTR_variant,,ENST00000355638,;ADAM11,downstream_gene_variant,,ENST00000588363,;	2299	35	51	SUCCESS
PELP1	27043	.	GRCh37	17	4579709	4579709	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753132105	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	32	0	ENST00000574876.1:c.796A>G	p.Ser266Gly	p.S266G	ENST00000574876		266	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	.	796	RADIA|VARSCANS	.	CAGACTGTGTA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429	.	.	ENSP00000461625	.	7/17	.	.	.	.	.	.	.	.	rs753132105	7/17	PASS	ENST00000574876	Transcript	.	.	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Ser266Gly,ENST00000269230,;PELP1,missense_variant,p.Ser119Gly,ENST00000436683,;PELP1,missense_variant,p.Ser266Gly,ENST00000574876,;PELP1,missense_variant,p.Ser266Gly,ENST00000301396,;PELP1,missense_variant,p.Ser316Gly,ENST00000572293,;PELP1,intron_variant,,ENST00000570571,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;AC091153.4,intron_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,upstream_gene_variant,,ENST00000575534,;PELP1,upstream_gene_variant,,ENST00000573506,;PELP1,upstream_gene_variant,,ENST00000573242,;	814	32	38	SUCCESS
SDK2	54549	.	GRCh37	17	71382609	71382609	+	synonymous_variant	Silent	SNP	C	C	T	rs769504258	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	12	0	ENST00000392650.3:c.4473G>A	p.Ser1491=	p.S1491=	ENST00000392650	NM_001144952.1	1491	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45769.1	4473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCGACTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000376421	.	31/45	.	.	.	.	.	.	.	.	rs769504258	31/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,synonymous_variant,p.%3D,ENST00000424778,;SDK2,synonymous_variant,p.%3D,ENST00000388726,;SDK2,synonymous_variant,p.%3D,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	4474	12	42	SUCCESS
LLGL2	3993	.	GRCh37	17	73568132	73568132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	14	0	ENST00000392550.3:c.2447A>G	p.Glu816Gly	p.E816G	ENST00000392550	NM_001031803.1	816	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32733.1	2447	RADIA|VARSCANS	.	ATCAGAGGAGC	NONE	.	.	hmmpanther:PTHR10241:SF20,hmmpanther:PTHR10241	.	.	ENSP00000376333	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000392550	Transcript	.	.	ENSG00000073350	6629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	L2GL2_HUMAN	LLGL2	HGNC	J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN	.	UPI00005905A8	SNV	LLGL2,missense_variant,p.Glu816Gly,ENST00000577200,;LLGL2,missense_variant,p.Glu816Gly,ENST00000167462,;LLGL2,missense_variant,p.Glu816Gly,ENST00000392550,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,non_coding_transcript_exon_variant,,ENST00000579092,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;LLGL2,downstream_gene_variant,,ENST00000578719,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;	2564	14	29	SUCCESS
TP53	7157	.	GRCh37	17	7578211	7578211	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs587778720	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	51	68	0	ENST00000269305.4:c.638G>A	p.Arg213Gln	p.R213Q	ENST00000269305	NM_001126112.2	213	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11118.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided,pathogenic	TATGTCGAAAA	SITE|p.R81Q|c.242G>A|9,SITE|p.R213Q|c.638G>A|9,SITE|p.R213Q|c.638G>A|31,SITE|p.R120Q|c.359G>A|9,SITE|p.R213Q|c.638G>A|4,SITE|p.R213Q|c.638G>A|9,SITE|p.R213Q|c.638G>A|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.R213R|c.639A>G|6,CODON|p.R213L|c.638G>T|12,CODON|p.R213L|c.638G>T|4,CODON|p.R213L|c.638G>T|39,CODON|p.R120L|c.359G>T|12,CODON|p.R213P|c.638G>C|6,CODON|p.R81L|c.242G>T|12,CODON|p.R213L|c.638G>T|6,CODON|p.R213L|c.638G>T|12,CODON|p.R213fs*34|c.637delC|3,BUFFER|p.V218delV|c.646_648delGTG|8,BUFFER|p.V216G|c.647T>G|5,BUFFER|p.V216A|c.647T>C|3,BUFFER|p.V216E|c.647T>A|4,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|12,BUFFER|p.V123M|c.367G>A|20,BUFFER|p.V216L|c.646G>T|8,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|7,BUFFER|p.V216M|c.646G>A|70,BUFFER|p.V84M|c.250G>A|20,BUFFER|p.S215R|c.645T>G|3,BUFFER|p.S215R|c.645T>A|4,BUFFER|p.S122R|c.366T>A|4,BUFFER|p.S215R|c.645T>G|13,BUFFER|p.S215R|c.645T>A|4,BUFFER|p.S83R|c.249T>A|4,BUFFER|p.S122R|c.366T>G|3,BUFFER|p.S215R|c.645T>G|3,BUFFER|p.S83R|c.249T>G|3,BUFFER|p.S215R|c.645T>A|8,BUFFER|p.S215I|c.644G>T|4,BUFFER|p.S215I|c.644G>T|4,BUFFER|p.S215I|c.644G>T|19,BUFFER|p.S215T|c.644G>C|3,BUFFER|p.S83I|c.248G>T|4,BUFFER|p.S122I|c.365G>T|4,BUFFER|p.S215N|c.644G>A|8,BUFFER|p.S215C|c.643A>T|4,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S83G|c.247A>G|3,BUFFER|p.S215G|c.643A>G|10,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S122G|c.364A>G|3,BUFFER|p.H214Q|c.642T>G|3,BUFFER|p.H214R|c.641A>G|66,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|5,BUFFER|p.H82R|c.245A>G|18,BUFFER|p.H121R|c.362A>G|16,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|6,BUFFER|p.H214Y|c.640C>T|5,BUFFER|p.H214D|c.640C>G|4,BUFFER|p.F212fs*3|c.635_636delTT|5,BUFFER|p.R213*|c.637C>T|45,BUFFER|p.R120*|c.358C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R81*|c.241C>T|87,BUFFER|p.R213*|c.637C>T|267,BUFFER|p.R213*|c.637C>T|33,BUFFER|p.F212fs*3|c.634_635delTT|6,BUFFER|p.R213fs*34|c.634delT|5,BUFFER|p.T211T|c.633T>C|9,BUFFER|p.T211I|c.632C>T|3,BUFFER|p.T211I|c.632C>T|11,BUFFER|p.T211N|c.632C>A|4,BUFFER|p.T118I|c.353C>T|3,BUFFER|p.T79I|c.236C>T|3,BUFFER|p.T211I|c.632C>T|3,BUFFER|p.T211fs*36|c.631delA|4,BUFFER|p.T211A|c.631A>G|3,BUFFER|p.N210fs*37|c.628delA|3,BUFFER|p.R209fs*6|c.626_627delGA|3,BUFFER|p.R116fs*6|c.347_348delGA|3,BUFFER|p.R209fs*6|c.626_627delGA|3,BUFFER|p.R209fs*6|c.626_627delGA|11,BUFFER|p.R77fs*6|c.230_231delGA|3,BUFFER|p.R209fs*6|c.625_626delAG|23	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM022474,rs587778720,CM004906,TP53_g.12707G>C,TP53_g.12707G>T,TP53_g.12707G>A,COSM10735,COSM11860,COSM43650,COSM3717650,COSM131466,COSM241998,COSM131467,COSM241997,COSM3717653,COSM131469,COSM241999,COSM3717655,COSM3378349,COSM3403265,COSM3717652,COSM1741334,COSM1726594,COSM3717651,COSM131468,COSM242000,COSM3717654	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg213Gln,ENST00000413465,;TP53,missense_variant,p.Arg213Gln,ENST00000420246,;TP53,missense_variant,p.Arg213Gln,ENST00000269305,;TP53,missense_variant,p.Arg81Gln,ENST00000509690,;TP53,missense_variant,p.Arg213Gln,ENST00000359597,;TP53,missense_variant,p.Arg120Gln,ENST00000514944,;TP53,missense_variant,p.Arg213Gln,ENST00000445888,;TP53,missense_variant,p.Arg213Gln,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	828	68	79	SUCCESS
PIEZO2	63895	.	GRCh37	18	10696431	10696440	+	frameshift_variant	Frame_Shift_Del	DEL	CAGTGTCAGC	CAGTGTCAGC	-	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	CAGTGTCAGC	CAGTGTCAGC	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	41	0	ENST00000503781.3:c.6586_6595del	p.Ala2196TrpfsTer37	p.A2196Wfs*37	ENST00000503781	NM_022068.2	2196	GCTGACACTGtg/tg	0	.	.	.	.	.	-	ADTV/X	protein_coding	YES	.	6586-6595	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCCACAGTGTCAGCCAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24	.	.	ENSP00000421377	.	42/52	.	.	.	.	.	.	.	.	.	42/52	PASS	ENST00000503781	Transcript	.	.	ENSG00000154864	26270	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIEZ2_HUMAN	PIEZO2	HGNC	J3KSM7_HUMAN	.	UPI0001B3CB29	deletion	PIEZO2,frameshift_variant,p.Ala51TrpfsTer37,ENST00000285141,;PIEZO2,frameshift_variant,p.Ala2221TrpfsTer37,ENST00000580640,;PIEZO2,frameshift_variant,p.Ala2196TrpfsTer37,ENST00000503781,;PIEZO2,frameshift_variant,p.Ala153TrpfsTer37,ENST00000538948,;PIEZO2,frameshift_variant,p.Ala2196TrpfsTer37,ENST00000302079,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	6586-6595	41	73	SUCCESS
POTEC	388468	.	GRCh37	18	14542729	14542729	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	467	320	278	0	ENST00000358970.5:c.417T>C	p.Asp139=	p.D139=	ENST00000358970	NM_001137671.1	139	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS45835.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATCTTC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000351856	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,synonymous_variant,p.%3D,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,synonymous_variant,p.%3D,ENST00000511306,;	417	278	788	SUCCESS
NEDD4L	23327	.	GRCh37	18	55996342	55996342	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	48	0	ENST00000400345.3:c.796G>C	p.Gly266Arg	p.G266R	ENST00000400345	NM_001144967.2	266	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS45872.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGGGCGGG	NONE	.	.	hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,PIRSF_domain:PIRSF001569	.	.	ENSP00000383199	.	10/31	.	.	.	.	.	.	.	.	.	10/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.64)	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,missense_variant,p.Gly145Arg,ENST00000456173,;NEDD4L,missense_variant,p.Gly145Arg,ENST00000256832,;NEDD4L,missense_variant,p.Gly258Arg,ENST00000586263,;NEDD4L,missense_variant,p.Gly258Arg,ENST00000357895,;NEDD4L,missense_variant,p.Gly266Arg,ENST00000400345,;NEDD4L,missense_variant,p.Gly145Arg,ENST00000431212,;NEDD4L,missense_variant,p.Gly145Arg,ENST00000435432,;NEDD4L,missense_variant,p.Gly145Arg,ENST00000456986,;NEDD4L,missense_variant,p.Gly266Arg,ENST00000356462,;NEDD4L,missense_variant,p.Gly100Arg,ENST00000587881,;NEDD4L,missense_variant,p.Gly266Arg,ENST00000256830,;NEDD4L,missense_variant,p.Gly145Arg,ENST00000586268,;NEDD4L,missense_variant,p.Gly266Arg,ENST00000382850,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000592601,;NEDD4L,downstream_gene_variant,,ENST00000588066,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590020,;NEDD4L,upstream_gene_variant,,ENST00000589167,;	1079	48	54	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60241883	60241883	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	75	106	0	ENST00000269499.5:c.2569T>G	p.Phe857Val	p.F857V	ENST00000269499	NM_017742.4	857	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS45880.1	2569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTTTCCCA	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	.	.	ENSP00000269499	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.14)	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,missense_variant,p.Phe536Val,ENST00000586834,;ZCCHC2,missense_variant,p.Phe857Val,ENST00000269499,;ZCCHC2,splice_region_variant,,ENST00000587612,;ZCCHC2,missense_variant,p.Phe777Val,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;ZCCHC2,upstream_gene_variant,,ENST00000591145,;	2987	107	241	SUCCESS
ZNF700	90592	.	GRCh37	19	12059506	12059506	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	70	98	0	ENST00000254321.5:c.667A>T	p.Lys223Ter	p.K223*	ENST00000254321	NM_144566.2	223	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS32915.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATAAATGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000254321	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254321	Transcript	.	.	ENSG00000196757	25292	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN700_HUMAN	ZNF700	HGNC	.	.	UPI00000713C0	SNV	ZNF700,stop_gained,p.Lys223Ter,ENST00000254321,;ZNF700,stop_gained,p.Lys205Ter,ENST00000482090,;ZNF763,intron_variant,,ENST00000538752,;ZNF763,intron_variant,,ENST00000590798,;ZNF763,intron_variant,,ENST00000591944,;CTD-2006C1.12,intron_variant,,ENST00000586394,;ZNF763,intron_variant,,ENST00000591441,;ZNF763,upstream_gene_variant,,ENST00000586354,;	810	98	178	SUCCESS
ZNF208	7757	.	GRCh37	19	22156136	22156136	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1326463141	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	19	0	ENST00000397126.4:c.1700C>A	p.Thr567Asn	p.T567N	ENST00000397126	NM_007153.3	567	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54240.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGGTTGAG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.39)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Thr567Asn,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	1849	19	39	SUCCESS
ZNF536	9745	.	GRCh37	19	30936253	30936254	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AAGT	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	44	0	ENST00000355537.3:c.1788_1791dup	p.Leu598Ter	p.L598*	ENST00000355537	NM_014717.1	595	cca/ccAAGTa	0	.	.	.	.	.	AAGT	P/PSX	protein_coding	YES	CCDS32984.1	1784-1785	INDELOCATOR|VARSCANI	.	CCTGCCAAGTA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	insertion	ZNF536,frameshift_variant,p.Leu598Ter,ENST00000585628,;ZNF536,frameshift_variant,p.Leu598Ter,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	1931-1932	44	64	SUCCESS
C2CD4C	126567	.	GRCh37	19	408323	408323	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	50	85	0	ENST00000332235.6:c.39G>T	p.Arg13=	p.R13=	ENST00000332235	NM_001136263.1	13	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45890.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCCGAAG	NONE	.	.	.	.	.	ENSP00000328677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332235	Transcript	.	.	ENSG00000183186	29417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2C4C_HUMAN	C2CD4C	HGNC	.	.	UPI00001C2016	SNV	C2CD4C,synonymous_variant,p.%3D,ENST00000332235,;	213	85	109	SUCCESS
SHKBP1	92799	.	GRCh37	19	41089323	41089323	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	31	0	ENST00000291842.5:c.980T>A	p.Ile327Asn	p.I327N	ENST00000291842	NM_138392.3	327	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS12560.1	980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCATCACCA	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF3	.	.	ENSP00000291842	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000291842	Transcript	.	.	ENSG00000160410	19214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SHKB1_HUMAN	SHKBP1	HGNC	B3KVX8_HUMAN	.	UPI0000036171	SNV	SHKBP1,missense_variant,p.Ile322Asn,ENST00000600718,;SHKBP1,missense_variant,p.Ile302Asn,ENST00000600733,;SHKBP1,missense_variant,p.Ile327Asn,ENST00000291842,;SHKBP1,downstream_gene_variant,,ENST00000595631,;SHKBP1,upstream_gene_variant,,ENST00000602011,;SHKBP1,upstream_gene_variant,,ENST00000593764,;SHKBP1,upstream_gene_variant,,ENST00000600320,;SHKBP1,upstream_gene_variant,,ENST00000594298,;SHKBP1,upstream_gene_variant,,ENST00000597396,;SHKBP1,downstream_gene_variant,,ENST00000600552,;SHKBP1,upstream_gene_variant,,ENST00000597649,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,downstream_gene_variant,,ENST00000598558,;SHKBP1,downstream_gene_variant,,ENST00000598907,;SHKBP1,upstream_gene_variant,,ENST00000599833,;SHKBP1,downstream_gene_variant,,ENST00000599575,;SHKBP1,upstream_gene_variant,,ENST00000596163,;SHKBP1,downstream_gene_variant,,ENST00000595803,;SHKBP1,downstream_gene_variant,,ENST00000595874,;SHKBP1,upstream_gene_variant,,ENST00000600791,;SHKBP1,downstream_gene_variant,,ENST00000595523,;SHKBP1,downstream_gene_variant,,ENST00000595945,;	1029	31	48	SUCCESS
ZNF28	7576	.	GRCh37	19	53304625	53304625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	368	15	176	0	ENST00000457749.2:c.473G>T	p.Gly158Val	p.G158V	ENST00000457749	NM_006969.3	158	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33093.2	473	MUTECT|MUSE	.	TTTTCCCTTCA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.621)	.	deleterious(0.01)	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,missense_variant,p.Gly105Val,ENST00000391783,;ZNF28,missense_variant,p.Gly105Val,ENST00000360272,;ZNF28,missense_variant,p.Gly155Val,ENST00000596559,;ZNF28,missense_variant,p.Gly158Val,ENST00000457749,;ZNF28,missense_variant,p.Gly105Val,ENST00000414252,;ZNF28,missense_variant,p.Gly105Val,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000594602,;	593	176	383	SUCCESS
ZNF845	91664	.	GRCh37	19	53856410	53856410	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757441149	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	87	99	0	ENST00000458035.1:c.2482G>A	p.Glu828Lys	p.E828K	ENST00000458035	NM_138374.1	828	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46170.1	2482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGAGAAA	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50157	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	rs757441149	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.07)	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,missense_variant,p.Glu828Lys,ENST00000595091,;ZNF845,missense_variant,p.Glu828Lys,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	2599	99	183	SUCCESS
MIR519D	574480	.	GRCh37	19	54216629	54216629	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs550303151	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	88	122	0	ENST00000385246.1:n.29C>T		p.*10*	ENST00000385246				0	.	T:0	.	T:0	.	T	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCGCTTT	NONE	by1000G	.	.	T:0	.	.	T:0	1/1	.	.	.	.	.	.	.	.	rs550303151	1/1	PASS	ENST00000385246	Transcript	.	T:0.0002	ENSG00000207981	32112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	.	MIR519D	HGNC	.	.	.	SNV	MIR519D,non_coding_transcript_exon_variant,,ENST00000385246,;MIR521-2,upstream_gene_variant,,ENST00000384818,;MIR517A,downstream_gene_variant,,ENST00000385001,;MIR524,downstream_gene_variant,,ENST00000385242,;MIR518C,downstream_gene_variant,,ENST00000384822,;	29	122	221	SUCCESS
XAB2	56949	.	GRCh37	19	7687527	7687527	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	16	0	ENST00000358368.4:c.1392C>T	p.Ala464=	p.A464=	ENST00000358368	NM_020196.2	464	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS32892.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGGGCAGG	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,SMART_domains:SM00386,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000351137	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000358368	Transcript	.	.	ENSG00000076924	14089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYF1_HUMAN	XAB2	HGNC	Q68CN2_HUMAN,F5H315_HUMAN	.	UPI0000001BDE	SNV	XAB2,synonymous_variant,p.%3D,ENST00000358368,;XAB2,synonymous_variant,p.%3D,ENST00000534844,;CAMSAP3,downstream_gene_variant,,ENST00000160298,;CAMSAP3,downstream_gene_variant,,ENST00000446248,;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;XAB2,upstream_gene_variant,,ENST00000600230,;CAMSAP3,downstream_gene_variant,,ENST00000595692,;XAB2,upstream_gene_variant,,ENST00000596134,;	1430	16	13	SUCCESS
MUC16	94025	.	GRCh37	19	9057202	9057202	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	60	96	0	ENST00000397910.4:c.30244G>T	p.Glu10082Ter	p.E10082*	ENST00000397910	NM_024690.2	10082	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS54212.1	30244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCAACTG	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Glu10082Ter,ENST00000397910,;	30448	96	175	SUCCESS
NTNG1	22854	.	GRCh37	1	107937923	107937923	+	synonymous_variant	Silent	SNP	C	C	T	rs1215823960	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	43	0	ENST00000370068.1:c.1035C>T	p.Pro345=	p.P345=	ENST00000370068		345	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS44180.1	1035	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCCCCATCCC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00180	.	.	ENSP00000359085	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000370068	Transcript	.	.	ENSG00000162631	23319	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTNG1_HUMAN	NTNG1	HGNC	Q5IEC8_HUMAN	.	UPI0000458A3E	SNV	NTNG1,synonymous_variant,p.%3D,ENST00000370074,;NTNG1,synonymous_variant,p.%3D,ENST00000370070,;NTNG1,synonymous_variant,p.%3D,ENST00000370071,;NTNG1,synonymous_variant,p.%3D,ENST00000370072,;NTNG1,synonymous_variant,p.%3D,ENST00000370067,;NTNG1,synonymous_variant,p.%3D,ENST00000370073,;NTNG1,synonymous_variant,p.%3D,ENST00000370061,;NTNG1,synonymous_variant,p.%3D,ENST00000542803,;NTNG1,synonymous_variant,p.%3D,ENST00000370068,;NTNG1,synonymous_variant,p.%3D,ENST00000370066,;NTNG1,synonymous_variant,p.%3D,ENST00000370065,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	1881	43	117	SUCCESS
FCRL2	79368	.	GRCh37	1	157739786	157739786	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	212	87	0	ENST00000361516.3:c.465C>T	p.Gly155=	p.G155=	ENST00000361516	NM_030764.3	155	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1168.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCCTGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11481:SF41,hmmpanther:PTHR11481,PROSITE_profiles:PS50835	.	.	ENSP00000355157	.	4/12	.	.	.	.	.	.	.	.	COSM3740729	4/12	PASS	ENST00000361516	Transcript	.	.	ENSG00000132704	14875	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FCRL2_HUMAN	FCRL2	HGNC	.	.	UPI000006E1F3	SNV	FCRL2,synonymous_variant,p.%3D,ENST00000361516,;FCRL2,synonymous_variant,p.%3D,ENST00000392274,;FCRL2,intron_variant,,ENST00000368181,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,;	514	87	365	SUCCESS
COPA	1314	.	GRCh37	1	160295377	160295377	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	156	82	0	ENST00000241704.7:c.562G>A	p.Asp188Asn	p.D188N	ENST00000241704	NM_004371.3	188	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS41424.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATCAACCC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Gene3D:2.130.10.10,PIRSF_domain:PIRSF003354	.	.	ENSP00000357048	.	7/33	.	.	.	.	.	.	.	.	.	7/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	deleterious(0.01)	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,missense_variant,p.Asp188Asn,ENST00000368069,;COPA,missense_variant,p.Asp188Asn,ENST00000241704,;Y_RNA,downstream_gene_variant,,ENST00000365208,;	640	83	259	SUCCESS
DCAF6	55827	.	GRCh37	1	168014320	168014320	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	193	125	0	ENST00000312263.6:c.1882G>C	p.Glu628Gln	p.E628Q	ENST00000312263	NM_001017977.2	628	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS55657.1	2113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTGAGCCT	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11	.	.	ENSP00000356814	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious_low_confidence(0.01)	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,missense_variant,p.Glu674Gln,ENST00000432587,;DCAF6,missense_variant,p.Glu705Gln,ENST00000367840,;DCAF6,missense_variant,p.Glu628Gln,ENST00000312263,;DCAF6,missense_variant,p.Glu648Gln,ENST00000367843,;DCAF6,non_coding_transcript_exon_variant,,ENST00000478668,;DCAF6,non_coding_transcript_exon_variant,,ENST00000489398,;	2207	125	323	SUCCESS
LAMC1	3915	.	GRCh37	1	183093943	183093943	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769260014	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	43	68	0	ENST00000258341.4:c.2579A>G	p.Tyr860Cys	p.Y860C	ENST00000258341	NM_002293.3	860	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1351.1	2579	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTATTGTG	NONE	byFrequency	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000258341	.	14/28	.	.	.	.	.	.	.	.	rs769260014	14/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	deleterious(0.03)	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,missense_variant,p.Tyr860Cys,ENST00000258341,;LAMC1,upstream_gene_variant,,ENST00000478064,;LAMC1,upstream_gene_variant,,ENST00000466964,;	2836	68	201	SUCCESS
UBR4	23352	.	GRCh37	1	19511591	19511591	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	56	0	ENST00000375254.3:c.1938+2T>C		p.X646_splice	ENST00000375254	NM_020765.2	646		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS189.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTACCAAC	NONE	.	.	.	.	.	ENSP00000364403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	HIGH	15/105	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,splice_donor_variant,,ENST00000375254,;UBR4,splice_donor_variant,,ENST00000375217,;UBR4,splice_donor_variant,,ENST00000375267,;UBR4,splice_donor_variant,,ENST00000375226,;	.	56	93	SUCCESS
RABIF	5877	.	GRCh37	1	202858125	202858125	+	synonymous_variant	Silent	SNP	C	C	G	rs753105265	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	42	67	0	ENST00000367262.3:c.102G>C	p.Gly34=	p.G34=	ENST00000367262	NM_002871.4	34	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS1428.1	102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTCCCTGG	NONE	byFrequency	.	Superfamily_domains:SSF51316,Pfam_domain:PF04421,Gene3D:2.170.150.10,hmmpanther:PTHR13276	.	.	ENSP00000356231	.	1/2	.	.	.	.	.	.	.	.	rs753105265	1/2	PASS	ENST00000367262	Transcript	.	.	ENSG00000183155	9797	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSS4_HUMAN	RABIF	HGNC	.	.	UPI0000001C5E	SNV	RABIF,synonymous_variant,p.%3D,ENST00000367262,;KLHL12,downstream_gene_variant,,ENST00000367261,;KLHL12,downstream_gene_variant,,ENST00000367259,;KLHL12,downstream_gene_variant,,ENST00000435533,;	139	67	91	SUCCESS
OBSCN	84033	.	GRCh37	1	228468480	228468480	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	19	0	ENST00000422127.1:c.8180C>A	p.Ala2727Asp	p.A2727D	ENST00000422127	NM_001098623.2	2727	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS59204.1	9467	MUTECT|MUSE|VARSCANS	.	CCGGGCCCGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	35/116	.	.	.	.	.	.	.	.	.	35/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.987)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala3Asp,ENST00000483539,;OBSCN,missense_variant,p.Ala2727Asp,ENST00000284548,;OBSCN,missense_variant,p.Ala1574Asp,ENST00000359599,;OBSCN,missense_variant,p.Ala575Asp,ENST00000366706,;OBSCN,missense_variant,p.Ala3156Asp,ENST00000570156,;OBSCN,missense_variant,p.Ala2727Asp,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,non_coding_transcript_exon_variant,,ENST00000366704,;	9541	19	17	SUCCESS
OBSCN	84033	.	GRCh37	1	228529240	228529240	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757952523	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	25	0	ENST00000422127.1:c.17959C>T	p.Arg5987Trp	p.R5987W	ENST00000422127	NM_001098623.2	5987	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS59204.1	20830	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACGGACA	NONE	byFrequency	.	PROSITE_profiles:PS50003,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000455507	.	85/116	.	.	.	.	.	.	.	.	rs757952523	85/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Arg3621Trp,ENST00000366707,;OBSCN,missense_variant,p.Arg3106Trp,ENST00000366709,;OBSCN,missense_variant,p.Arg5987Trp,ENST00000284548,;OBSCN,missense_variant,p.Arg604Trp,ENST00000441106,;OBSCN,missense_variant,p.Arg5987Trp,ENST00000422127,;OBSCN,missense_variant,p.Arg6944Trp,ENST00000570156,;	20904	25	59	SUCCESS
ERO1LB	0	.	GRCh37	1	236416758	236416758	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	249	76	113	0	ENST00000354619.5:c.270T>C	p.Cys90=	p.C90=	ENST00000354619	NM_019891.3	90	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS31064.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAACAGTG	NONE	.	.	Superfamily_domains:0043331,PIRSF_domain:PIRSF017205,Pfam_domain:PF04137,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF2	.	.	ENSP00000346635	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000354619	Transcript	.	.	ENSG00000086619	14355	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERO1B_HUMAN	ERO1LB	HGNC	Q5TAE8_HUMAN,Q5T1H5_HUMAN	.	UPI00004700B5	SNV	ERO1LB,synonymous_variant,p.%3D,ENST00000327333,;ERO1LB,synonymous_variant,p.%3D,ENST00000354619,;ERO1LB,5_prime_UTR_variant,,ENST00000366589,;	472	113	326	SUCCESS
ZNF436	80818	.	GRCh37	1	23689653	23689653	+	synonymous_variant	Silent	SNP	T	T	C	rs745363552	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	117	110	0	ENST00000314011.4:c.222A>G	p.Gln74=	p.Q74=	ENST00000314011	NM_001077195.1	74	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS233.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAATTGTAC	NONE	byFrequency	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,SMART_domains:SM00349	.	.	ENSP00000313582	.	4/4	.	.	.	.	.	.	.	.	rs745363552	4/4	PASS	ENST00000314011	Transcript	.	.	ENSG00000125945	20814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN436_HUMAN	ZNF436	HGNC	Q15921_HUMAN	.	UPI0000001669	SNV	ZNF436,synonymous_variant,p.%3D,ENST00000314011,;ZNF436,synonymous_variant,p.%3D,ENST00000374608,;	359	110	267	SUCCESS
RP11-193H5.1	0	.	GRCh37	1	238090055	238090055	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	18	0	ENST00000450451.1:n.1561C>A		p.*521*	ENST00000450451				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCAAGCT	NONE	.	.	.	.	.	.	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000450451	Transcript	.	.	ENSG00000237250	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-193H5.1	Clone_based_vega_gene	.	.	.	SNV	RP11-193H5.1,non_coding_transcript_exon_variant,,ENST00000450451,;RP11-193H5.2,upstream_gene_variant,,ENST00000450208,;	1561	18	53	SUCCESS
LYPLA2	11313	.	GRCh37	1	24119236	24119236	+	synonymous_variant	Silent	SNP	C	C	A	rs755575326	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	41	0	ENST00000374514.3:c.64C>A	p.Arg22=	p.R22=	ENST00000374514	NM_007260.2	22	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS241.1	64	MUSE|VARSCANS	.	CTGAGCGGGAA	NONE	byFrequency	.	Superfamily_domains:SSF53474,Pfam_domain:PF02230,Gene3D:3.40.50.1820,hmmpanther:PTHR10655:SF13,hmmpanther:PTHR10655	.	.	ENSP00000363638	.	2/10	.	.	.	.	.	.	.	.	rs755575326	2/10	PASS	ENST00000374514	Transcript	.	.	ENSG00000011009	6738	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYPA2_HUMAN	LYPLA2	HGNC	Q5QPQ0_HUMAN,Q5QPN5_HUMAN	.	UPI0000073F0B	SNV	LYPLA2,missense_variant,p.Ser9Arg,ENST00000420982,;LYPLA2,synonymous_variant,p.%3D,ENST00000400061,;LYPLA2,synonymous_variant,p.%3D,ENST00000421070,;LYPLA2,synonymous_variant,p.%3D,ENST00000374503,;LYPLA2,synonymous_variant,p.%3D,ENST00000374514,;LYPLA2,synonymous_variant,p.%3D,ENST00000374502,;LYPLA2,synonymous_variant,p.%3D,ENST00000374505,;PITHD1,downstream_gene_variant,,ENST00000246151,;GALE,downstream_gene_variant,,ENST00000418277,;LYPLA2,upstream_gene_variant,,ENST00000374501,;GALE,downstream_gene_variant,,ENST00000445705,;GALE,downstream_gene_variant,,ENST00000425913,;GALE,downstream_gene_variant,,ENST00000429356,;GALE,downstream_gene_variant,,ENST00000374497,;PITHD1,downstream_gene_variant,,ENST00000374524,;GALE,downstream_gene_variant,,ENST00000456977,;LYPLA2,non_coding_transcript_exon_variant,,ENST00000495365,;LYPLA2,non_coding_transcript_exon_variant,,ENST00000492577,;GALE,downstream_gene_variant,,ENST00000459934,;GALE,downstream_gene_variant,,ENST00000467493,;GALE,downstream_gene_variant,,ENST00000481736,;LYPLA2,upstream_gene_variant,,ENST00000472213,;GALE,downstream_gene_variant,,ENST00000469556,;GALE,downstream_gene_variant,,ENST00000470949,;	371	41	57	SUCCESS
MYOM3	127294	.	GRCh37	1	24410801	24410801	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	34	1	ENST00000374434.3:c.1970+157A>G		p.*657*	ENST00000374434	NM_152372.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41281.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CATAATCATAA	NONE	.	.	.	.	.	ENSP00000363557	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374434	Transcript	.	.	ENSG00000142661	26679	.	.	MODIFIER	16/36	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYOM3_HUMAN	MYOM3	HGNC	.	.	UPI0000203A5D	SNV	MYOM3,intron_variant,,ENST00000374434,;MYOM3,intron_variant,,ENST00000329601,;MYOM3,intron_variant,,ENST00000330966,;RP11-293P20.2,intron_variant,,ENST00000439239,;RP11-293P20.4,downstream_gene_variant,,ENST00000429191,;MYOM3,non_coding_transcript_exon_variant,,ENST00000475306,;MYOM3,upstream_gene_variant,,ENST00000448831,;	.	35	32	SUCCESS
OR2L13	284521	.	GRCh37	1	248262994	248262994	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	153	77	0	ENST00000358120.2:c.317T>C	p.Met106Thr	p.M106T	ENST00000358120		106	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS1637.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCATGGCGT	BUFFER|p.M106I|c.318G>T|3,BUFFER|p.M106I|c.318G>T|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF102,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355434	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366478	Transcript	.	.	ENSG00000196071	19578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.01)	.	OR2LD_HUMAN	OR2L13	HGNC	.	.	UPI0000043517	SNV	OR2L13,missense_variant,p.Met106Thr,ENST00000358120,;OR2L13,missense_variant,p.Met106Thr,ENST00000366478,;	654	77	274	SUCCESS
OR2T4	127074	.	GRCh37	1	248525893	248525893	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	448	217	245	0	ENST00000366475.1:c.1011A>G	p.Leu337=	p.L337=	ENST00000366475	NM_001004696.1	337	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS31113.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTAACAGT	NONE	.	.	hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000355431	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366475	Transcript	.	.	ENSG00000196944	15016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2T4_HUMAN	OR2T4	HGNC	.	.	UPI000004B9CC	SNV	OR2T4,synonymous_variant,p.%3D,ENST00000366475,;	1011	245	666	SUCCESS
OR2T27	403239	.	GRCh37	1	248813316	248813316	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	449	74	171	0	ENST00000344889.3:c.870C>A	p.Tyr290Ter	p.Y290*	ENST00000344889	NM_001001824.1	290	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS31124.1	870	RADIA|MUTECT|MUSE	.	AGGCTGTAAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000342008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344889	Transcript	.	.	ENSG00000187701	31252	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O2T27_HUMAN	OR2T27	HGNC	.	.	UPI000004F239	SNV	OR2T27,stop_gained,p.Tyr290Ter,ENST00000344889,;	870	171	523	SUCCESS
SLC1A7	6512	.	GRCh37	1	53555552	53555552	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	64	70	0	ENST00000371494.4:c.1281C>G	p.Leu427=	p.L427=	ENST00000371494	NM_006671.4	427	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS574.1	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACGAGGCC	NONE	.	.	hmmpanther:PTHR11958:SF22,hmmpanther:PTHR11958,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221	.	.	ENSP00000360549	.	9/11	.	.	.	.	.	.	.	.	COSM681768	9/11	PASS	ENST00000371494	Transcript	.	.	ENSG00000162383	10945	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	EAA5_HUMAN	SLC1A7	HGNC	F1T0D2_HUMAN	.	UPI000013DED8	SNV	SLC1A7,synonymous_variant,p.%3D,ENST00000371494,;PODN,downstream_gene_variant,,ENST00000312553,;PODN,downstream_gene_variant,,ENST00000371500,;PODN,downstream_gene_variant,,ENST00000395871,;RP11-334A14.5,upstream_gene_variant,,ENST00000447867,;SLC1A7,non_coding_transcript_exon_variant,,ENST00000488036,;	1409	70	150	SUCCESS
SSTR4	6754	.	GRCh37	20	23017142	23017142	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	65	0	ENST00000255008.3:c.1022A>G	p.Glu341Gly	p.E341G	ENST00000255008	NM_001052.2	341	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS42856.1	1022	MUTECT|MUSE	.	TGAGGAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Prints_domain:PR00590	.	.	ENSP00000255008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000255008	Transcript	.	.	ENSG00000132671	11333	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.616)	.	tolerated(0.22)	.	SSR4_HUMAN	SSTR4	HGNC	.	.	UPI000013CE7A	SNV	SSTR4,missense_variant,p.Glu341Gly,ENST00000255008,;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	1086	65	89	SUCCESS
CST11	140880	.	GRCh37	20	23431159	23431159	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	53	79	0	ENST00000377009.3:c.401G>C	p.Ser134Thr	p.S134T	ENST00000377009	NM_130794.1	134	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS13155.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCTTTTG	NONE	.	.	hmmpanther:PTHR11413:SF7,hmmpanther:PTHR11413,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403	.	.	ENSP00000366208	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377009	Transcript	.	.	ENSG00000125831	15959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.11)	.	CST11_HUMAN	CST11	HGNC	.	.	UPI00000714F3	SNV	CST11,missense_variant,p.Ser134Thr,ENST00000377009,;CST11,missense_variant,p.Ser99Thr,ENST00000377007,;	435	79	128	SUCCESS
MYBL2	4605	.	GRCh37	20	42331511	42331511	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	61	0	ENST00000217026.4:c.1333C>G	p.Pro445Ala	p.P445A	ENST00000217026	NM_002466.3	445	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS13322.1	1333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACACCTGTT	NONE	.	.	hmmpanther:PTHR10641:SF37,hmmpanther:PTHR10641	.	.	ENSP00000217026	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000217026	Transcript	.	.	ENSG00000101057	7548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0.01)	.	MYBB_HUMAN	MYBL2	HGNC	.	.	UPI000012FAE1	SNV	MYBL2,missense_variant,p.Pro445Ala,ENST00000217026,;MYBL2,missense_variant,p.Pro421Ala,ENST00000396863,;	1460	61	111	SUCCESS
PMEPA1	56937	.	GRCh37	20	56227217	56227217	+	synonymous_variant	Silent	SNP	C	C	A	rs760638901	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	37	0	ENST00000341744.3:c.756G>T	p.Pro252=	p.P252=	ENST00000341744	NM_020182.4	252	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13463.1	756	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGGGCGGCCC	NONE	.	.	hmmpanther:PTHR16514,hmmpanther:PTHR16514:SF5	.	.	ENSP00000345826	.	4/4	.	.	.	.	.	.	.	.	rs760638901	4/4	PASS	ENST00000341744	Transcript	.	.	ENSG00000124225	14107	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PMEPA_HUMAN	PMEPA1	HGNC	.	.	UPI000004970A	SNV	PMEPA1,synonymous_variant,p.%3D,ENST00000265626,;PMEPA1,synonymous_variant,p.%3D,ENST00000341744,;PMEPA1,synonymous_variant,p.%3D,ENST00000395816,;PMEPA1,synonymous_variant,p.%3D,ENST00000347215,;PMEPA1,synonymous_variant,p.%3D,ENST00000395814,;PMEPA1,downstream_gene_variant,,ENST00000395819,;PMEPA1,downstream_gene_variant,,ENST00000414037,;	1076	37	42	SUCCESS
STK39	27347	.	GRCh37	2	169018309	169018309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	121	180	0	ENST00000355999.4:c.616G>T	p.Val206Leu	p.V206L	ENST00000355999	NM_013233.2	206	Gta/Tta	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42770.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACTGAAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000348278	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000355999	Transcript	.	.	ENSG00000198648	17717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	STK39_HUMAN	STK39	HGNC	.	.	UPI000013D46D	SNV	STK39,missense_variant,p.Val206Leu,ENST00000355999,;	1322	180	333	SUCCESS
PPIG	9360	.	GRCh37	2	170440851	170440851	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	16	0	ENST00000260970.3:c.-219C>G		p.*73*	ENST00000260970	NM_004792.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2235.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGCGCTTC	NONE	.	.	.	.	.	ENSP00000260970	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000260970	Transcript	.	.	ENSG00000138398	14650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPIG_HUMAN	PPIG	HGNC	C9JT64_HUMAN,C9JN15_HUMAN	.	UPI000013D124	SNV	PPIG,5_prime_UTR_variant,,ENST00000260970,;PPIG,upstream_gene_variant,,ENST00000409714,;PPIG,upstream_gene_variant,,ENST00000414307,;PPIG,upstream_gene_variant,,ENST00000462903,;PPIG,upstream_gene_variant,,ENST00000433207,;PPIG,upstream_gene_variant,,ENST00000418888,;PPIG,upstream_gene_variant,,ENST00000448752,;PPIG,upstream_gene_variant,,ENST00000530152,;	2	16	34	SUCCESS
MYT1L	23040	.	GRCh37	2	1796112	1796112	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	61	53	1	ENST00000399161.2:c.3401A>G	p.Asn1134Ser	p.N1134S	ENST00000399161	NM_015025.2	1134	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS46222.1	3395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTTAGCC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Asn1134Ser,ENST00000399161,;MYT1L,missense_variant,p.Asn188Ser,ENST00000399157,;MYT1L,missense_variant,p.Asn132Ser,ENST00000407844,;MYT1L,missense_variant,p.Asn1132Ser,ENST00000428368,;	4065	54	165	SUCCESS
SH3YL1	26751	.	GRCh37	2	218860	218860	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	68	46	0	ENST00000356150.5:c.980T>G	p.Leu327Arg	p.L327R	ENST00000356150	NM_015677.2	327	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS42646.2	980	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCGAAGTTTT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR15629,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000348471	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000356150	Transcript	.	.	ENSG00000035115	29546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	SH3Y1_HUMAN	SH3YL1	HGNC	C9J4Z8_HUMAN	.	UPI0000072FAE	SNV	SH3YL1,missense_variant,p.Leu240Arg,ENST00000451005,;SH3YL1,missense_variant,p.Leu327Arg,ENST00000356150,;SH3YL1,missense_variant,p.Leu308Arg,ENST00000403712,;SH3YL1,missense_variant,p.Leu212Arg,ENST00000403657,;SH3YL1,missense_variant,p.Leu231Arg,ENST00000415006,;SH3YL1,missense_variant,p.Leu327Arg,ENST00000405430,;SH3YL1,missense_variant,p.Leu212Arg,ENST00000403658,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000463865,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000473104,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000468321,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000460974,;SH3YL1,downstream_gene_variant,,ENST00000472012,;SH3YL1,3_prime_UTR_variant,,ENST00000479739,;	1061	46	142	SUCCESS
SPATA3	130560	.	GRCh37	2	231861109	231861109	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	83	0	ENST00000424440.1:c.161C>G	p.Thr54Arg	p.T54R	ENST00000424440		54	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS2481.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22234	.	.	ENSP00000388895	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000452881	Transcript	.	.	ENSG00000173699	17884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	tolerated(0.15)	.	SPTA3_HUMAN	SPATA3	HGNC	.	.	UPI000006E910	SNV	SPATA3,missense_variant,p.Thr3Arg,ENST00000423134,;SPATA3,missense_variant,p.Thr54Arg,ENST00000455816,;SPATA3,missense_variant,p.Thr20Arg,ENST00000440792,;SPATA3,missense_variant,p.Thr54Arg,ENST00000424440,;SPATA3,missense_variant,p.Thr54Arg,ENST00000452881,;SPATA3,missense_variant,p.Thr54Arg,ENST00000433428,;SPATA3-AS1,upstream_gene_variant,,ENST00000426904,;SPATA3-AS1,upstream_gene_variant,,ENST00000418330,;SPATA3-AS1,upstream_gene_variant,,ENST00000457803,;SPATA3-AS1,upstream_gene_variant,,ENST00000434094,;SPATA3-AS1,upstream_gene_variant,,ENST00000414876,;SPATA3-AS1,upstream_gene_variant,,ENST00000446741,;SPATA3-AS1,upstream_gene_variant,,ENST00000441063,;SPATA3,upstream_gene_variant,,ENST00000409956,;SPATA3,intron_variant,,ENST00000454918,;	269	83	129	SUCCESS
PRADC1	84279	.	GRCh37	2	73456589	73456589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	13	0	ENST00000258083.2:c.278G>C	p.Gly93Ala	p.G93A	ENST00000258083	NM_032319.1	93	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS1924.1	278	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTTACCCCCTC	NONE	.	.	Superfamily_domains:SSF52025,Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22702	.	.	ENSP00000258083	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000258083	Transcript	.	.	ENSG00000135617	16047	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	PADC1_HUMAN	PRADC1	HGNC	.	.	UPI0000039EBE	SNV	PRADC1,missense_variant,p.Gly93Ala,ENST00000258083,;CCT7,upstream_gene_variant,,ENST00000540468,;CCT7,upstream_gene_variant,,ENST00000399032,;CCT7,upstream_gene_variant,,ENST00000258091,;CCT7,upstream_gene_variant,,ENST00000538797,;SMYD5,downstream_gene_variant,,ENST00000389501,;CCT7,upstream_gene_variant,,ENST00000539919,;CCT7,upstream_gene_variant,,ENST00000398422,;CCT7,upstream_gene_variant,,ENST00000537131,;PRADC1,splice_region_variant,,ENST00000480093,;CCT7,upstream_gene_variant,,ENST00000471927,;CCT7,upstream_gene_variant,,ENST00000473786,;CCT7,upstream_gene_variant,,ENST00000473197,;SMYD5,downstream_gene_variant,,ENST00000486518,;CCT7,upstream_gene_variant,,ENST00000492253,;CCT7,upstream_gene_variant,,ENST00000469844,;CCT7,upstream_gene_variant,,ENST00000409924,;PRADC1,downstream_gene_variant,,ENST00000470391,;CCT7,upstream_gene_variant,,ENST00000464397,;CCT7,upstream_gene_variant,,ENST00000480489,;CCT7,upstream_gene_variant,,ENST00000461290,;	346	13	47	SUCCESS
ALMS1	7840	.	GRCh37	2	73717941	73717941	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	59	0	ENST00000264448.6:c.8852G>C	p.Gly2951Ala	p.G2951A	ENST00000264448	NM_015120.4	2951	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS42697.1	8852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTCAGG	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Gly2909Ala,ENST00000409009,;ALMS1,missense_variant,p.Gly2951Ala,ENST00000264448,;AC096546.1,upstream_gene_variant,,ENST00000408160,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;ALMS1,intron_variant,,ENST00000423048,;	8963	59	82	SUCCESS
KCMF1	56888	.	GRCh37	2	85255054	85255054	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777236299	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	99	148	0	ENST00000409785.4:c.59G>A	p.Arg20His	p.R20H	ENST00000409785	NM_020122.4	20	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS46350.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGCAGAT	NONE	.	.	PROSITE_profiles:PS50135,hmmpanther:PTHR12268:SF13,hmmpanther:PTHR12268,PROSITE_patterns:PS01357,Pfam_domain:PF00569,SMART_domains:SM00291,Superfamily_domains:SSF57850	.	.	ENSP00000386738	.	2/7	.	.	.	.	.	.	.	.	rs777236299	2/7	PASS	ENST00000409785	Transcript	.	.	ENSG00000176407	20589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0.02)	.	KCMF1_HUMAN	KCMF1	HGNC	C9JSW5_HUMAN,C9J3I2_HUMAN	.	UPI000003615C	SNV	KCMF1,missense_variant,p.Arg20His,ENST00000409785,;KCMF1,5_prime_UTR_variant,,ENST00000428691,;KCMF1,5_prime_UTR_variant,,ENST00000456682,;KCMF1,5_prime_UTR_variant,,ENST00000453448,;	418	148	246	SUCCESS
ZNF2	7549	.	GRCh37	2	95847630	95847630	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	44	44	0	ENST00000340539.5:c.1057G>T	p.Asp353Tyr	p.D353Y	ENST00000340539	NM_021088.2	353	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS42712.1	1057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTGACCGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF152,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000345392	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000340539	Transcript	.	.	ENSG00000163067	12991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	tolerated(0.22)	.	ZNF2_HUMAN	ZNF2	HGNC	B2RE18_HUMAN,B0AZN8_HUMAN	.	UPI0000207C0D	SNV	ZNF2,missense_variant,p.Asp366Tyr,ENST00000453539,;ZNF2,missense_variant,p.Asp311Tyr,ENST00000398107,;ZNF2,missense_variant,p.Asp273Tyr,ENST00000425369,;ZNF2,missense_variant,p.Asp353Tyr,ENST00000340539,;ZNF2,missense_variant,p.Asp315Tyr,ENST00000295210,;	1519	44	98	SUCCESS
TMEM131	23505	.	GRCh37	2	98373568	98373568	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	40	0	ENST00000186436.5:c.5646G>C	p.Glu1882Asp	p.E1882D	ENST00000186436	NM_015348.1	1882	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS46368.1	5646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCTCGTG	NONE	.	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1	.	.	ENSP00000186436	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000186436	Transcript	.	.	ENSG00000075568	30366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.16)	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,missense_variant,p.Glu1882Asp,ENST00000186436,;TMEM131,non_coding_transcript_exon_variant,,ENST00000485245,;TMEM131,downstream_gene_variant,,ENST00000465767,;TMEM131,downstream_gene_variant,,ENST00000469447,;	5875	40	94	SUCCESS
ABHD10	55347	.	GRCh37	3	111710276	111710279	+	frameshift_variant	Frame_Shift_Del	DEL	CTGA	CTGA	-	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	CTGA	CTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	122	80	75	0	ENST00000273359.3:c.629_632del	p.Ser210Ter	p.S210*	ENST00000273359	NM_018394.3	210	tCTGAa/ta	0	.	.	.	.	.	-	SE/X	protein_coding	YES	CCDS2963.1	629-632	INDELOCATOR*|VARSCANI*|PINDEL	.	AATACTCTGAAGAAG	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF12697,hmmpanther:PTHR16138:SF7,hmmpanther:PTHR16138	.	.	ENSP00000273359	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000273359	Transcript	.	.	ENSG00000144827	25656	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABHDA_HUMAN	ABHD10	HGNC	B7Z6A8_HUMAN	.	UPI0000042225	deletion	ABHD10,frameshift_variant,p.Ser210Ter,ENST00000273359,;ABHD10,frameshift_variant,p.Ser53Ter,ENST00000534857,;ABHD10,3_prime_UTR_variant,,ENST00000494817,;ABHD10,3_prime_UTR_variant,,ENST00000491580,;ABHD10,3_prime_UTR_variant,,ENST00000493784,;	656-659	75	202	SUCCESS
CCDC14	64770	.	GRCh37	3	123650008	123650008	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	121	199	0	ENST00000433542.2:c.1740A>G	p.Ile580Met	p.I580M	ENST00000433542	NM_022757.4	580	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3025.2	1740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATATCTG	NONE	.	.	hmmpanther:PTHR22367,hmmpanther:PTHR22367:SF1,Pfam_domain:PF15254	.	.	ENSP00000395706	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000433542	Transcript	.	.	ENSG00000175455	25766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	CCD14_HUMAN	CCDC14	HGNC	C9JWZ1_HUMAN	.	UPI00016632FB	SNV	CCDC14,missense_variant,p.Ile461Met,ENST00000310351,;CCDC14,missense_variant,p.Ile421Met,ENST00000485727,;CCDC14,missense_variant,p.Ile602Met,ENST00000409697,;CCDC14,missense_variant,p.Ile262Met,ENST00000419247,;CCDC14,missense_variant,p.Ile203Met,ENST00000479903,;CCDC14,missense_variant,p.Ile621Met,ENST00000488653,;CCDC14,missense_variant,p.Ile580Met,ENST00000433542,;CCDC14,missense_variant,p.Ile421Met,ENST00000489746,;CCDC14,intron_variant,,ENST00000463996,;CCDC14,intron_variant,,ENST00000483247,;CCDC14,3_prime_UTR_variant,,ENST00000409657,;CCDC14,non_coding_transcript_exon_variant,,ENST00000495381,;CCDC14,non_coding_transcript_exon_variant,,ENST00000487498,;CCDC14,downstream_gene_variant,,ENST00000485949,;CCDC14,downstream_gene_variant,,ENST00000471054,;	2140	199	317	SUCCESS
NEK11	79858	.	GRCh37	3	130748574	130748574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	80	73	0	ENST00000383366.4:c.22G>T	p.Ala8Ser	p.A8S	ENST00000383366	NM_024800.4	8	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3069.1	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGCTAAG	NONE	.	.	.	.	.	ENSP00000372857	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000383366	Transcript	.	.	ENSG00000114670	18593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	deleterious_low_confidence(0.02)	.	NEK11_HUMAN	NEK11	HGNC	.	.	UPI000013F25D	SNV	NEK11,missense_variant,p.Ala8Ser,ENST00000383366,;NEK11,missense_variant,p.Ala8Ser,ENST00000508196,;NEK11,missense_variant,p.Ala8Ser,ENST00000356918,;NEK11,missense_variant,p.Ala8Ser,ENST00000507910,;NEK11,missense_variant,p.Ala8Ser,ENST00000510769,;NEK11,missense_variant,p.Ala8Ser,ENST00000511262,;NEK11,missense_variant,p.Ala8Ser,ENST00000510688,;NEK11,missense_variant,p.Ala8Ser,ENST00000429253,;NEK11,5_prime_UTR_variant,,ENST00000412440,;ASTE1,upstream_gene_variant,,ENST00000264992,;ASTE1,upstream_gene_variant,,ENST00000509060,;ASTE1,upstream_gene_variant,,ENST00000504725,;ASTE1,upstream_gene_variant,,ENST00000505545,;ASTE1,upstream_gene_variant,,ENST00000514044,;NEK11,non_coding_transcript_exon_variant,,ENST00000513550,;NEK11,non_coding_transcript_exon_variant,,ENST00000507967,;NEK11,missense_variant,p.Ala8Ser,ENST00000514915,;NEK11,missense_variant,p.Ala8Ser,ENST00000510474,;NEK11,non_coding_transcript_exon_variant,,ENST00000506695,;ASTE1,upstream_gene_variant,,ENST00000504964,;ASTE1,upstream_gene_variant,,ENST00000507978,;	315	73	170	SUCCESS
C3orf72	0	.	GRCh37	3	138669225	138669225	+	synonymous_variant	Silent	SNP	C	C	T	rs761612537	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	28	0	ENST00000383165.3:c.339C>T	p.Leu113=	p.L113=	ENST00000383165	NM_001040061.2	113	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43155.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCAGCTC	NONE	.	.	.	.	.	ENSP00000372651	.	3/3	.	.	.	.	.	.	.	.	rs761612537	3/3	PASS	ENST00000383165	Transcript	.	.	ENSG00000206262	34428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC072_HUMAN	C3orf72	HGNC	.	.	UPI00001C0AE3	SNV	C3orf72,synonymous_variant,p.%3D,ENST00000383165,;FOXL2,upstream_gene_variant,,ENST00000330315,;C3orf72,3_prime_UTR_variant,,ENST00000470680,;C3orf72,non_coding_transcript_exon_variant,,ENST00000498709,;	470	28	21	SUCCESS
WDR49	151790	.	GRCh37	3	167246878	167246878	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	87	127	0	ENST00000308378.3:c.1312G>A	p.Gly438Arg	p.G438R	ENST00000308378	NM_178824.3	438	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS3201.1	1312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCTGTGG	NONE	.	.	Prints_domain:PR00320,Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294	.	.	ENSP00000311343	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,missense_variant,p.Gly514Arg,ENST00000472600,;WDR49,missense_variant,p.Gly502Arg,ENST00000453925,;WDR49,missense_variant,p.Gly263Arg,ENST00000476376,;WDR49,missense_variant,p.Gly76Arg,ENST00000493061,;WDR49,missense_variant,p.Gly438Arg,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;WDR49,downstream_gene_variant,,ENST00000460448,;	1618	127	252	SUCCESS
SCN10A	6336	.	GRCh37	3	38835301	38835301	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	130	107	0	ENST00000449082.2:c.201T>C	p.Tyr67=	p.Y67=	ENST00000449082	NM_006514.2	67	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS33736.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCATAGAA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,synonymous_variant,p.%3D,ENST00000449082,;	201	107	303	SUCCESS
CADPS	8618	.	GRCh37	3	62739120	62739120	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	39	27	0	ENST00000383710.4:c.884G>C	p.Cys295Ser	p.C295S	ENST00000383710	NM_003716.3	295	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS46858.1	884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCAGGCA	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	tolerated(0.05)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Cys295Ser,ENST00000357948,;CADPS,missense_variant,p.Cys295Ser,ENST00000283269,;CADPS,missense_variant,p.Cys295Ser,ENST00000383710,;CADPS,missense_variant,p.Cys295Ser,ENST00000490353,;	1234	27	81	SUCCESS
C4orf21	0	.	GRCh37	4	113510881	113510881	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	98	138	0	ENST00000505019.1:c.3126G>C	p.Glu1042Asp	p.E1042D	ENST00000505019	NM_018392.4	1042	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS3700.2	3126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCTCCAA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	.	.	ENSP00000424737	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,missense_variant,p.Glu1042Asp,ENST00000309071,;C4orf21,missense_variant,p.Glu1042Asp,ENST00000505019,;C4orf21,intron_variant,,ENST00000473015,;C4orf21,upstream_gene_variant,,ENST00000445413,;	3252	138	140	SUCCESS
TNIP3	79931	.	GRCh37	4	122085259	122085259	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	54	61	0	ENST00000057513.3:c.22A>G	p.Thr8Ala	p.T8A	ENST00000057513	NM_024873.5	8	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS58926.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTGCCCT	NONE	.	.	hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2	.	.	ENSP00000426613	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000509841	Transcript	.	.	ENSG00000050730	19315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	tolerated(0.1)	.	TNIP3_HUMAN	TNIP3	HGNC	.	.	UPI00017A8362	SNV	TNIP3,missense_variant,p.Thr85Ala,ENST00000509841,;TNIP3,missense_variant,p.Thr8Ala,ENST00000454328,;TNIP3,missense_variant,p.Thr8Ala,ENST00000057513,;TNIP3,missense_variant,p.Thr78Ala,ENST00000507879,;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;	332	61	162	SUCCESS
PCDH10	57575	.	GRCh37	4	134071720	134071720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	26	0	ENST00000264360.5:c.425C>A	p.Pro142His	p.P142H	ENST00000264360	NM_032961.1	142	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS34063.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCCTTGG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000264360	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,missense_variant,p.Pro142His,ENST00000264360,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;PCDH10,upstream_gene_variant,,ENST00000511112,;	1251	26	49	SUCCESS
IRF2	3660	.	GRCh37	4	185340688	185340688	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1255904730	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	26	0	ENST00000393593.3:c.122C>T	p.Ala41Val	p.A41V	ENST00000393593	NM_002199.3	41	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3835.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGCATGC	SITE|p.A41V|c.122C>T|3	.	.	Prints_domain:PR00267,Superfamily_domains:SSF46785,PIRSF_domain:PIRSF038196,SMART_domains:SM00348,Gene3D:1.10.10.10,Pfam_domain:PF00605,PROSITE_patterns:PS00601,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22,PROSITE_profiles:PS51507	.	.	ENSP00000377218	.	3/9	.	.	.	.	.	.	.	.	COSM281974	3/9	PASS	ENST00000393593	Transcript	.	.	ENSG00000168310	6117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.919)	.	deleterious(0)	1	IRF2_HUMAN	IRF2	HGNC	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN	.	UPI000012D888	SNV	IRF2,missense_variant,p.Ala41Val,ENST00000507523,;IRF2,missense_variant,p.Ala41Val,ENST00000393593,;IRF2,missense_variant,p.Ala41Val,ENST00000506230,;IRF2,missense_variant,p.Ala41Val,ENST00000510814,;IRF2,upstream_gene_variant,,ENST00000502750,;IRF2,upstream_gene_variant,,ENST00000505067,;IRF2,non_coding_transcript_exon_variant,,ENST00000512020,;IRF2,synonymous_variant,p.%3D,ENST00000509274,;	330	26	50	SUCCESS
ZCCHC4	29063	.	GRCh37	4	25353268	25353268	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755637965	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	125	106	0	ENST00000302874.4:c.968G>T	p.Arg323Leu	p.R323L	ENST00000302874	NM_024936.2	323	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43218.1	968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGAATTT	NONE	.	.	hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2	.	.	ENSP00000303468	.	8/13	.	.	.	.	.	.	.	.	rs755637965	8/13	PASS	ENST00000302874	Transcript	.	.	ENSG00000168228	22917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0.01)	.	ZCHC4_HUMAN	ZCCHC4	HGNC	.	.	UPI0000251F28	SNV	ZCCHC4,missense_variant,p.Arg188Leu,ENST00000505412,;ZCCHC4,missense_variant,p.Arg323Leu,ENST00000302874,;AC108218.1,upstream_gene_variant,,ENST00000580712,;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,;ZCCHC4,intron_variant,,ENST00000507760,;	992	106	329	SUCCESS
RFC1	5981	.	GRCh37	4	39322038	39322038	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	105	144	0	ENST00000381897.1:c.1060C>G	p.Pro354Ala	p.P354A	ENST00000381897	NM_002913.4	354	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS56329.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGGAGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,PIRSF_domain:PIRSF036578	.	.	ENSP00000371321	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000381897	Transcript	.	.	ENSG00000035928	9969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.302)	.	deleterious(0.03)	.	RFC1_HUMAN	RFC1	HGNC	.	.	UPI0000167BB4	SNV	RFC1,missense_variant,p.Pro354Ala,ENST00000349703,;RFC1,missense_variant,p.Pro354Ala,ENST00000381897,;RFC1,upstream_gene_variant,,ENST00000504554,;RFC1,non_coding_transcript_exon_variant,,ENST00000512881,;RFC1,upstream_gene_variant,,ENST00000509084,;RFC1,downstream_gene_variant,,ENST00000418436,;RFC1,downstream_gene_variant,,ENST00000504849,;RFC1,downstream_gene_variant,,ENST00000512726,;	1194	144	262	SUCCESS
ZNF608	57507	.	GRCh37	5	123982848	123982848	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	96	123	0	ENST00000306315.5:c.3229T>A	p.Ser1077Thr	p.S1077T	ENST00000306315	NM_020747.2	1077	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS34219.1	3229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGACTGAG	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.07)	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,missense_variant,p.Ser1077Thr,ENST00000306315,;ZNF608,missense_variant,p.Ser650Thr,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000505686,;	3665	123	252	SUCCESS
LMNB1	4001	.	GRCh37	5	126145938	126145938	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	60	0	ENST00000261366.5:c.709G>T	p.Glu237Ter	p.E237*	ENST00000261366	NM_001198557.1	237	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4140.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGAGTAT	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF157	.	.	ENSP00000261366	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000261366	Transcript	1	.	ENSG00000113368	6637	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMNB1_HUMAN	LMNB1	HGNC	E9PBF6_HUMAN	.	UPI000013D170	SNV	LMNB1,stop_gained,p.Glu237Ter,ENST00000261366,;LMNB1,stop_gained,p.Glu237Ter,ENST00000395354,;LMNB1,non_coding_transcript_exon_variant,,ENST00000472034,;LMNB1,non_coding_transcript_exon_variant,,ENST00000460265,;LMNB1,non_coding_transcript_exon_variant,,ENST00000463908,;LMNB1,non_coding_transcript_exon_variant,,ENST00000504788,;LMNB1,upstream_gene_variant,,ENST00000494185,;	1070	60	93	SUCCESS
H2AFY	0	.	GRCh37	5	134724771	134724771	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769661746	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	23	0	ENST00000511689.1:c.13G>A	p.Gly5Ser	p.G5S	ENST00000511689	NM_138610.2	5	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4185.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCGCGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF20,Gene3D:1.10.20.10,PIRSF_domain:PIRSF037942,SMART_domains:SM00414	.	.	ENSP00000423563	.	2/9	.	.	.	.	.	.	.	.	rs769661746	2/9	PASS	ENST00000511689	Transcript	.	.	ENSG00000113648	4740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.16)	.	H2AY_HUMAN	H2AFY	HGNC	.	.	UPI00000723ED	SNV	H2AFY,missense_variant,p.Gly5Ser,ENST00000510038,;H2AFY,missense_variant,p.Gly5Ser,ENST00000423969,;H2AFY,missense_variant,p.Gly5Ser,ENST00000304332,;H2AFY,missense_variant,p.Gly5Ser,ENST00000312469,;H2AFY,missense_variant,p.Gly5Ser,ENST00000511689,;H2AFY,non_coding_transcript_exon_variant,,ENST00000508962,;H2AFY,non_coding_transcript_exon_variant,,ENST00000506532,;H2AFY,non_coding_transcript_exon_variant,,ENST00000508785,;H2AFY,non_coding_transcript_exon_variant,,ENST00000360597,;H2AFY,intron_variant,,ENST00000508120,;H2AFY,upstream_gene_variant,,ENST00000513210,;H2AFY,missense_variant,p.Gly5Ser,ENST00000506671,;H2AFY,non_coding_transcript_exon_variant,,ENST00000506218,;H2AFY,non_coding_transcript_exon_variant,,ENST00000507868,;	607	23	49	SUCCESS
SPOCK1	6695	.	GRCh37	5	136314376	136314376	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	130	111	0	ENST00000394945.1:c.1287T>C	p.Asp429=	p.D429=	ENST00000394945	NM_004598.3	429	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS4191.1	1287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCATCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036	.	.	ENSP00000378401	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000394945	Transcript	.	.	ENSG00000152377	11251	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICN1_HUMAN	SPOCK1	HGNC	D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN	.	UPI0000136F50	SNV	SPOCK1,synonymous_variant,p.%3D,ENST00000394945,;SPOCK1,synonymous_variant,p.%3D,ENST00000282223,;SPOCK1,downstream_gene_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000515091,;	1457	111	309	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	140645	140645	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369792305	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	57	83	0	ENST00000283426.6:c.223C>T	p.Arg75Trp	p.R75W	ENST00000283426	NM_052909.3	75	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS34124.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCGGACT	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000283426	.	1/18	.	.	.	.	.	.	.	.	rs369792305	1/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	deleterious(0)	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,missense_variant,p.Arg75Trp,ENST00000283426,;PLEKHG4B,upstream_gene_variant,,ENST00000502646,;CTD-2231H16.1,downstream_gene_variant,,ENST00000512035,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	273	83	136	SUCCESS
PCYOX1L	78991	.	GRCh37	5	148745666	148745666	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	31	0	ENST00000274569.4:c.632C>G	p.Ala211Gly	p.A211G	ENST00000274569	NM_024028.3	211	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS4296.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCTGTCC	NONE	.	.	hmmpanther:PTHR15944:SF2,hmmpanther:PTHR15944,Pfam_domain:PF07156,PIRSF_domain:PIRSF036292,Superfamily_domains:SSF51905	.	.	ENSP00000274569	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000274569	Transcript	.	.	ENSG00000145882	28477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.02)	.	PCYXL_HUMAN	PCYOX1L	HGNC	E7EVZ5_HUMAN	.	UPI0000049E12	SNV	PCYOX1L,missense_variant,p.Ala211Gly,ENST00000274569,;PCYOX1L,missense_variant,p.Ala121Gly,ENST00000514349,;PCYOX1L,3_prime_UTR_variant,,ENST00000511945,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000503240,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000507621,;PCYOX1L,intron_variant,,ENST00000505669,;PCYOX1L,downstream_gene_variant,,ENST00000510990,;	694	31	66	SUCCESS
EIF4E1B	253314	.	GRCh37	5	176070173	176070173	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1581186780	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	59	98	0	ENST00000318682.6:c.106C>A	p.Pro36Thr	p.P36T	ENST00000318682	NM_001099408.1	36	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47345.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTCCAAAC	NONE	.	.	hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF3	.	.	ENSP00000323714	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000318682	Transcript	.	.	ENSG00000175766	33179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.57)	.	I4E1B_HUMAN	EIF4E1B	HGNC	D6RHE2_HUMAN	.	UPI0001572CC7	SNV	EIF4E1B,missense_variant,p.Pro36Thr,ENST00000510660,;EIF4E1B,missense_variant,p.Pro36Thr,ENST00000318682,;EIF4E1B,missense_variant,p.Pro36Thr,ENST00000504597,;TSPAN17,upstream_gene_variant,,ENST00000503045,;TSPAN17,upstream_gene_variant,,ENST00000508164,;TSPAN17,upstream_gene_variant,,ENST00000507471,;TSPAN17,upstream_gene_variant,,ENST00000310032,;TSPAN17,upstream_gene_variant,,ENST00000298564,;TSPAN17,upstream_gene_variant,,ENST00000515708,;EIF4E1B,upstream_gene_variant,,ENST00000505497,;TSPAN17,upstream_gene_variant,,ENST00000504168,;TSPAN17,upstream_gene_variant,,ENST00000405525,;EIF4E1B,downstream_gene_variant,,ENST00000510473,;EIF4E1B,upstream_gene_variant,,ENST00000512734,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000515458,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000503895,;TSPAN17,upstream_gene_variant,,ENST00000503030,;TSPAN17,upstream_gene_variant,,ENST00000514705,;	690	98	159	SUCCESS
HMGCS1	3157	.	GRCh37	5	43299071	43299071	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	26	0	ENST00000325110.6:c.-4C>A		p.*2*	ENST00000325110	NM_001098272.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34154.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGAAAGA	NONE	.	.	.	.	.	ENSP00000322706	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000325110	Transcript	.	.	ENSG00000112972	5007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCS1_HUMAN	HMGCS1	HGNC	Q8N995_HUMAN,D6RIW1_HUMAN	.	UPI000012C9BC	SNV	HMGCS1,5_prime_UTR_variant,,ENST00000433297,;HMGCS1,5_prime_UTR_variant,,ENST00000325110,;HMGCS1,5_prime_UTR_variant,,ENST00000511774,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507293,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507004,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	204	26	47	SUCCESS
HIVEP1	3096	.	GRCh37	6	12162108	12162108	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754398937	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	82	78	0	ENST00000379388.2:c.6924G>T	p.Glu2308Asp	p.E2308D	ENST00000379388	NM_002114.2	2308	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS43426.1	6924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGTCAGA	NONE	.	.	hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	8/9	.	.	.	.	.	.	.	.	rs754398937	8/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.87)	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,missense_variant,p.Glu173Asp,ENST00000541134,;HIVEP1,missense_variant,p.Glu2308Asp,ENST00000379388,;HIVEP1,missense_variant,p.Glu235Asp,ENST00000442081,;HIVEP1,3_prime_UTR_variant,,ENST00000399469,;	7256	78	324	SUCCESS
LPA	4018	.	GRCh37	6	161006134	161006134	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	64	81	0	ENST00000316300.5:c.4233T>G	p.Ser1411=	p.S1411=	ENST00000316300		1411	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43523.1	4233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAAGACTG	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24261,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018	.	.	ENSP00000395608	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,synonymous_variant,p.%3D,ENST00000316300,;LPA,synonymous_variant,p.%3D,ENST00000447678,;	4354	81	198	SUCCESS
C6orf118	168090	.	GRCh37	6	165715292	165715292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	24	0	ENST00000230301.8:c.519G>T	p.Arg173Ser	p.R173S	ENST00000230301	NM_144980.3	173	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS5288.1	519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCCTGCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000230301	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	deleterious(0.02)	.	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,missense_variant,p.Arg69Ser,ENST00000543069,;C6orf118,missense_variant,p.Arg173Ser,ENST00000230301,;	540	24	34	SUCCESS
KDM1B	221656	.	GRCh37	6	18215297	18215297	+	synonymous_variant	Silent	SNP	C	C	A	rs757456976	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	25	40	0	ENST00000297792.5:c.1473C>A	p.Thr491=	p.T491=	ENST00000297792		491	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34343.1	1473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCCTGGA	NONE	.	.	hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Gene3D:3.90.660.10,Pfam_domain:PF01593,Superfamily_domains:SSF54373	.	.	ENSP00000297792	.	16/18	.	.	.	.	.	.	.	.	rs757456976	16/18	PASS	ENST00000297792	Transcript	.	.	ENSG00000165097	21577	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM1B_HUMAN	KDM1B	HGNC	Q08EI0_HUMAN	.	UPI000023739E	SNV	KDM1B,synonymous_variant,p.%3D,ENST00000546309,;KDM1B,synonymous_variant,p.%3D,ENST00000388870,;KDM1B,synonymous_variant,p.%3D,ENST00000397244,;KDM1B,synonymous_variant,p.%3D,ENST00000449850,;KDM1B,synonymous_variant,p.%3D,ENST00000297792,;	1650	40	123	SUCCESS
HIST1H4G	0	.	GRCh37	6	26246995	26246995	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140916075	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	102	70	0	ENST00000244537.4:c.211G>A	p.Val71Met	p.V71M	ENST00000244537	NM_003547.2	71	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS4599.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACGGCGT	NONE	byCluster	.	hmmpanther:PTHR10484:SF20,hmmpanther:PTHR10484,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	T:0.0001	ENSP00000244537	.	1/1	.	.	.	.	.	.	.	.	rs140916075	1/1	PASS	ENST00000244537	Transcript	.	.	ENSG00000124578	4792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.875)	.	deleterious(0.02)	.	H4G_HUMAN	HIST1H4G	HGNC	.	.	UPI000006D7D1	SNV	HIST1H4G,missense_variant,p.Val71Met,ENST00000244537,;HIST1H3F,downstream_gene_variant,,ENST00000446824,;HIST1H2BH,upstream_gene_variant,,ENST00000356350,;	265	70	190	SUCCESS
PRSS16	10279	.	GRCh37	6	27218524	27218524	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	37	35	0	ENST00000230582.3:c.530G>T	p.Ser177Ile	p.S177I	ENST00000230582	NM_005865.3	177	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS4623.1	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCCCCT	NONE	.	.	hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474	.	.	ENSP00000230582	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.326)	.	deleterious(0)	.	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,missense_variant,p.Ser69Ile,ENST00000485993,;PRSS16,missense_variant,p.Ser69Ile,ENST00000475106,;PRSS16,missense_variant,p.Ser177Ile,ENST00000230582,;PRSS16,intron_variant,,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000470870,;PRSS16,intron_variant,,ENST00000454665,;PRSS16,intron_variant,,ENST00000468930,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000462664,;	545	35	161	SUCCESS
OR2J3	442186	.	GRCh37	6	29080433	29080433	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs756475368	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	574	173	161	1	ENST00000377169.1:c.766A>T	p.Ile256Phe	p.I256F	ENST00000377169	NM_001005216.3	256	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS43433.1	766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCATTCCG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	rs756475368	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.647)	.	deleterious(0.01)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Ile256Phe,ENST00000377169,;	766	162	747	SUCCESS
TNXB	7148	.	GRCh37	6	32035476	32035476	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs912459761	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	64	65	0	ENST00000375244.3:c.6506G>A	p.Gly2169Glu	p.G2169E	ENST00000375244		2169	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	.	.	6506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCCCTCG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	18/44	.	.	.	.	.	.	.	.	.	18/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.Gly2169Glu,ENST00000375247,;TNXB,missense_variant,p.Gly2169Glu,ENST00000375244,;	6708	65	128	SUCCESS
RXRB	6257	.	GRCh37	6	33163892	33163892	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	22	0	ENST00000374680.3:c.994-79G>T		p.*332*	ENST00000374680	NM_021976.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59007.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCCTCCT	NONE	.	.	.	.	.	ENSP00000363817	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	SNV	RXRB,3_prime_UTR_variant,,ENST00000413614,;RXRB,intron_variant,,ENST00000374680,;RXRB,intron_variant,,ENST00000374685,;RXRB,intron_variant,,ENST00000544186,;COL11A2,upstream_gene_variant,,ENST00000395197,;SLC39A7,upstream_gene_variant,,ENST00000374675,;COL11A2,upstream_gene_variant,,ENST00000395194,;SLC39A7,upstream_gene_variant,,ENST00000444757,;COL11A2,upstream_gene_variant,,ENST00000361917,;SLC39A7,upstream_gene_variant,,ENST00000374677,;COL11A2,upstream_gene_variant,,ENST00000374712,;COL11A2,upstream_gene_variant,,ENST00000357486,;COL11A2,upstream_gene_variant,,ENST00000374708,;COL11A2,upstream_gene_variant,,ENST00000341947,;COL11A2,upstream_gene_variant,,ENST00000374714,;COL11A2,upstream_gene_variant,,ENST00000374713,;COL11A2,upstream_gene_variant,,ENST00000457788,;RNY4P10,upstream_gene_variant,,ENST00000365571,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,intron_variant,,ENST00000483281,;RXRB,upstream_gene_variant,,ENST00000483821,;	.	22	100	SUCCESS
DNAH8	1769	.	GRCh37	6	38810541	38810541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	68	78	0	ENST00000359357.3:c.4056G>A	p.Met1352Ile	p.M1352I	ENST00000359357		1352	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	4056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGACCAA	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	33/91	.	.	.	.	.	.	.	.	.	33/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Met1352Ile,ENST00000359357,;DNAH8,missense_variant,p.Met1557Ile,ENST00000327475,;DNAH8,missense_variant,p.Met1352Ile,ENST00000441566,;DNAH8,missense_variant,p.Met1569Ile,ENST00000449981,;	4310	78	310	SUCCESS
PRPF4B	8899	.	GRCh37	6	4053106	4053106	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	44	40	0	ENST00000337659.6:c.2465T>C	p.Leu822Pro	p.L822P	ENST00000337659	NM_003913.4	822	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4488.1	2465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCTGGTAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF45,hmmpanther:PTHR24056,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000337194	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000337659	Transcript	.	.	ENSG00000112739	17346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	PRP4B_HUMAN	PRPF4B	HGNC	H0YDJ3_HUMAN,F5H2U2_HUMAN	.	UPI000013DD12	SNV	PRPF4B,missense_variant,p.Leu822Pro,ENST00000337659,;PRPF4B,missense_variant,p.Leu808Pro,ENST00000538861,;PRPF4B,splice_region_variant,,ENST00000466185,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,upstream_gene_variant,,ENST00000494674,;FAM217A,upstream_gene_variant,,ENST00000463904,;PRPF4B,missense_variant,p.Leu402Pro,ENST00000481109,;PRPF4B,missense_variant,p.Leu822Pro,ENST00000480058,;PRPF4B,splice_region_variant,,ENST00000463634,;	2565	41	167	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47252058	47252058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	159	159	0	ENST00000296861.2:c.859G>A	p.Asp287Asn	p.D287N	ENST00000296861	NM_014452.4	287	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4921.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCTTCCT	NONE	.	.	hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097	.	.	ENSP00000296861	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.14)	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,missense_variant,p.Asp287Asn,ENST00000296861,;	1253	159	382	SUCCESS
COL19A1	1310	.	GRCh37	6	70852682	70852682	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	47	0	ENST00000322773.4:c.1596C>T	p.Ser532=	p.S532=	ENST00000322773	NM_001858.4	532	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4970.1	1596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCATGGG	NONE	.	.	hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	.	.	ENSP00000316030	.	23/51	.	.	.	.	.	.	.	.	.	23/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,synonymous_variant,p.%3D,ENST00000322773,;COL19A1,synonymous_variant,p.%3D,ENST00000393344,;	1698	47	69	SUCCESS
C7orf61	402573	.	GRCh37	7	100054424	100054425	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs767078637	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	24	0	ENST00000332375.3:c.571dup	p.Arg191ProfsTer24	p.R191Pfs*24	ENST00000332375	NM_001004323.1	191	cga/cCga	0	.	.	.	.	.	G	R/PX	protein_coding	YES	CCDS47661.1	571-572	INDELOCATOR|VARSCANI	.	TGGGTCGGGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000327732	.	3/3	.	.	.	.	.	.	.	.	rs767078637	3/3	PASS	ENST00000332375	Transcript	.	.	ENSG00000185955	22135	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CG061_HUMAN	C7orf61	HGNC	.	.	UPI00000741A1	insertion	C7orf61,frameshift_variant,p.Arg191ProfsTer24,ENST00000332375,;C7orf61,downstream_gene_variant,,ENST00000418952,;	817-818	24	81	SUCCESS
NAPEPLD	222236	.	GRCh37	7	102743978	102743978	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	384	150	180	1	ENST00000341533.4:c.1080G>A	p.Lys360=	p.K360=	ENST00000341533	NM_198990.4	360	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5729.1	1080	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCTTCAC	NONE	.	.	hmmpanther:PTHR15032,hmmpanther:PTHR15032:SF8,Gene3D:3.60.15.10,PIRSF_domain:PIRSF038896	.	.	ENSP00000407112	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000417955	Transcript	.	.	ENSG00000161048	21683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAPEP_HUMAN	NAPEPLD	HGNC	C9JGB1_HUMAN	.	UPI00001D74C6	SNV	NAPEPLD,synonymous_variant,p.%3D,ENST00000427257,;NAPEPLD,synonymous_variant,p.%3D,ENST00000341533,;NAPEPLD,synonymous_variant,p.%3D,ENST00000455523,;NAPEPLD,synonymous_variant,p.%3D,ENST00000417955,;NAPEPLD,synonymous_variant,p.%3D,ENST00000465647,;ARMC10,downstream_gene_variant,,ENST00000454559,;ARMC10,downstream_gene_variant,,ENST00000323716,;ARMC10,downstream_gene_variant,,ENST00000428183,;ARMC10,downstream_gene_variant,,ENST00000431642,;ARMC10,downstream_gene_variant,,ENST00000541300,;ARMC10,downstream_gene_variant,,ENST00000441711,;ARMC10,downstream_gene_variant,,ENST00000425331,;NAPEPLD,synonymous_variant,p.%3D,ENST00000422589,;NAPEPLD,synonymous_variant,p.%3D,ENST00000420631,;NAPEPLD,non_coding_transcript_exon_variant,,ENST00000414118,;ARMC10,downstream_gene_variant,,ENST00000306450,;ARMC10,downstream_gene_variant,,ENST00000323735,;ARMC10,downstream_gene_variant,,ENST00000479145,;	1235	181	534	SUCCESS
KMT2C	58508	.	GRCh37	7	151884488	151884488	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	106	83	0	ENST00000262189.6:c.4867G>T	p.Glu1623Ter	p.E1623*	ENST00000262189	NM_170606.2	1623	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5931.1	4867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCACAG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	33/59	.	.	.	.	.	.	.	.	.	33/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,stop_gained,p.Glu1623Ter,ENST00000355193,;KMT2C,stop_gained,p.Glu1623Ter,ENST00000262189,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	5086	83	198	SUCCESS
SNX13	23161	.	GRCh37	7	17908059	17908059	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	106	110	0	ENST00000428135.3:c.808G>C	p.Asp270His	p.D270H	ENST00000428135	NM_015132.4	270	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS47551.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCAGGAT	NONE	.	.	PROSITE_profiles:PS51207,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26,Pfam_domain:PF02194,SMART_domains:SM00313	.	.	ENSP00000398789	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000428135	Transcript	.	.	ENSG00000071189	21335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SNX13_HUMAN	SNX13	HGNC	B3KN60_HUMAN	.	UPI000002B3E8	SNV	SNX13,missense_variant,p.Asp270His,ENST00000428135,;SNX13,missense_variant,p.Asp270His,ENST00000409389,;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;SNX13,non_coding_transcript_exon_variant,,ENST00000482558,;	1007	110	331	SUCCESS
MACC1	346389	.	GRCh37	7	20199410	20199410	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	38	77	0	ENST00000332878.4:c.574T>A	p.Cys192Ser	p.C192S	ENST00000332878		192	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS5369.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGGAGC	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Cys192Ser,ENST00000589011,;MACC1,missense_variant,p.Cys192Ser,ENST00000400331,;MACC1,missense_variant,p.Cys192Ser,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	883	77	149	SUCCESS
ZNF679	168417	.	GRCh37	7	63726562	63726562	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	227	184	0	ENST00000255746.4:c.551T>G	p.Phe184Cys	p.F184C	ENST00000255746	NM_001159524.1	184	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS47592.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTCAAAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000416809	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421025	Transcript	.	.	ENSG00000197123	28650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0.02)	.	ZN679_HUMAN	ZNF679	HGNC	.	.	UPI000045756A	SNV	ZNF679,missense_variant,p.Phe184Cys,ENST00000255746,;ZNF679,missense_variant,p.Phe184Cys,ENST00000421025,;	820	185	416	SUCCESS
TRRAP	8295	.	GRCh37	7	98506458	98506458	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782557691	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	40	0	ENST00000359863.4:c.1223A>G	p.Asp408Gly	p.D408G	ENST00000359863	NM_001244580.1	408	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS59066.1	1223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACGATGAGT	NONE	.	.	hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Superfamily_domains:SSF48371	.	.	ENSP00000352925	.	14/72	.	.	.	.	.	.	.	.	rs782557691	14/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,missense_variant,p.Asp408Gly,ENST00000355540,;TRRAP,missense_variant,p.Asp408Gly,ENST00000446306,;TRRAP,missense_variant,p.Asp123Gly,ENST00000456197,;TRRAP,missense_variant,p.Asp408Gly,ENST00000359863,;	1432	40	113	SUCCESS
COPS6	10980	.	GRCh37	7	99686935	99686935	+	synonymous_variant	Silent	SNP	C	C	T	rs756804877	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	51	29	0	ENST00000303904.3:c.99C>T	p.Cys33=	p.C33=	ENST00000303904	NM_006833.4	33	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS5682.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCGGAGT	NONE	byFrequency	.	hmmpanther:PTHR10540:SF8,hmmpanther:PTHR10540	.	.	ENSP00000304102	.	2/10	.	.	.	.	.	.	.	.	rs756804877	2/10	PASS	ENST00000303904	Transcript	.	.	ENSG00000168090	21749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN6_HUMAN	COPS6	HGNC	C9JQK5_HUMAN,B2R514_HUMAN	.	UPI000014F97E	SNV	COPS6,synonymous_variant,p.%3D,ENST00000419210,;COPS6,synonymous_variant,p.%3D,ENST00000418625,;COPS6,synonymous_variant,p.%3D,ENST00000303904,;MCM7,downstream_gene_variant,,ENST00000354230,;MCM7,downstream_gene_variant,,ENST00000303887,;MCM7,downstream_gene_variant,,ENST00000343023,;MIR93,downstream_gene_variant,,ENST00000385024,;MIR25,downstream_gene_variant,,ENST00000384816,;MIR106B,downstream_gene_variant,,ENST00000385301,;COPS6,non_coding_transcript_exon_variant,,ENST00000496358,;COPS6,non_coding_transcript_exon_variant,,ENST00000472107,;COPS6,non_coding_transcript_exon_variant,,ENST00000468499,;COPS6,non_coding_transcript_exon_variant,,ENST00000465027,;MCM7,downstream_gene_variant,,ENST00000493352,;COPS6,upstream_gene_variant,,ENST00000474823,;COPS6,upstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000491245,;MCM7,downstream_gene_variant,,ENST00000485286,;MCM7,downstream_gene_variant,,ENST00000489841,;COPS6,upstream_gene_variant,,ENST00000483891,;	136	29	143	SUCCESS
EIF3E	3646	.	GRCh37	8	109229595	109229595	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	14	0	ENST00000220849.5:c.817G>T	p.Val273Phe	p.V273F	ENST00000220849	NM_001568.2	273	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS6308.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAACCTGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,HAMAP:MF_03004,hmmpanther:PTHR10317,PIRSF_domain:PIRSF016255	.	.	ENSP00000220849	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000220849	Transcript	.	.	ENSG00000104408	3277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	tolerated(0.33)	.	EIF3E_HUMAN	EIF3E	HGNC	E5RIT4_HUMAN,E5RGA2_HUMAN,B3KW56_HUMAN	.	UPI0000000C92	SNV	EIF3E,missense_variant,p.Val180Phe,ENST00000519030,;EIF3E,missense_variant,p.Val273Phe,ENST00000220849,;EIF3E,missense_variant,p.Val146Phe,ENST00000519627,;EIF3E,intron_variant,,ENST00000522352,;EIF3E,non_coding_transcript_exon_variant,,ENST00000519517,;EIF3E,non_coding_transcript_exon_variant,,ENST00000519413,;EIF3E,non_coding_transcript_exon_variant,,ENST00000521614,;EIF3E,downstream_gene_variant,,ENST00000522445,;	880	14	39	SUCCESS
TG	7038	.	GRCh37	8	133925494	133925494	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	47	48	0	ENST00000220616.4:c.4362G>C	p.Gln1454His	p.Q1454H	ENST00000220616	NM_003235.4	1454	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS34944.1	4362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAGGACGG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	20/48	.	.	.	.	.	.	.	.	.	20/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.547)	.	tolerated(0.17)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Gln1454His,ENST00000220616,;TG,missense_variant,p.Gln1454His,ENST00000377869,;TG,3_prime_UTR_variant,,ENST00000523756,;	4402	48	134	SUCCESS
SPATC1	375686	.	GRCh37	8	145101782	145101782	+	synonymous_variant	Silent	SNP	C	C	T	rs140647326	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	19	0	ENST00000377470.3:c.1701C>T	p.Leu567=	p.L567=	ENST00000377470	NM_198572.2	567	ctC/ctT	0	A:0.0018	A:0.0015	.	A:0	.	T	L	protein_coding	YES	CCDS6413.2	1701	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGCTCGCCGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16,Pfam_domain:PF15059	A:0	A:0	ENSP00000366690	A:0	5/5	.	.	.	.	.	.	.	.	rs140647326	5/5	PASS	ENST00000377470	Transcript	.	A:0.0004	ENSG00000186583	30510	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SPERI_HUMAN	SPATC1	HGNC	.	.	UPI00001D8243	SNV	SPATC1,synonymous_variant,p.%3D,ENST00000377470,;SPATC1,3_prime_UTR_variant,,ENST00000447830,;OPLAH,downstream_gene_variant,,ENST00000426825,;CTD-3065J16.6,upstream_gene_variant,,ENST00000561181,;CTD-3065J16.6,upstream_gene_variant,,ENST00000528912,;OPLAH,downstream_gene_variant,,ENST00000534424,;	1803	19	33	SUCCESS
ANK1	286	.	GRCh37	8	41573290	41573290	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	55	38	0	ENST00000347528.4:c.1482del	p.Asn495ThrfsTer38	p.N495Tfs*38	ENST00000347528	NM_020477.2	494	gcC/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS47849.1	1581	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGTTGGCGTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000265709	.	14/43	.	.	.	.	.	.	.	.	.	14/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	deletion	ANK1,frameshift_variant,p.Asn528ThrfsTer38,ENST00000265709,;ANK1,frameshift_variant,p.Asn495ThrfsTer38,ENST00000352337,;ANK1,frameshift_variant,p.Asn495ThrfsTer38,ENST00000396942,;ANK1,frameshift_variant,p.Asn495ThrfsTer38,ENST00000379758,;ANK1,frameshift_variant,p.Asn495ThrfsTer38,ENST00000289734,;ANK1,frameshift_variant,p.Asn495ThrfsTer38,ENST00000347528,;ANK1,frameshift_variant,p.Asn495ThrfsTer38,ENST00000396945,;	1863	38	137	SUCCESS
STXBP1	6812	.	GRCh37	9	130442485	130442485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	28	32	0	ENST00000373299.1:c.1511C>T	p.Thr504Ile	p.T504I	ENST00000373299	NM_001032221.3	504	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS6874.1	1511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTACCCGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.40.50.1910,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000362399	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000373302	Transcript	.	.	ENSG00000136854	11444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	tolerated(0.13)	.	STXB1_HUMAN	STXBP1	HGNC	.	.	UPI0000006C0B	SNV	STXBP1,missense_variant,p.Thr504Ile,ENST00000373302,;STXBP1,missense_variant,p.Thr504Ile,ENST00000373299,;STXBP1,non_coding_transcript_exon_variant,,ENST00000494254,;STXBP1,intron_variant,,ENST00000481942,;	1650	32	37	SUCCESS
CACNA1B	774	.	GRCh37	9	140907618	140907618	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	46	0	ENST00000371372.1:c.2198T>C	p.Leu733Pro	p.L733P	ENST00000371372	NM_001243812.1	733	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS59522.1	2198	RADIA|VARSCANS	.	GAAGCTTGCTC	NONE	.	.	hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000360423	.	18/47	.	.	.	.	.	.	.	.	.	18/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious(0.02)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Leu734Pro,ENST00000371355,;CACNA1B,missense_variant,p.Leu734Pro,ENST00000371357,;CACNA1B,missense_variant,p.Leu733Pro,ENST00000277551,;CACNA1B,missense_variant,p.Leu733Pro,ENST00000371363,;CACNA1B,missense_variant,p.Leu733Pro,ENST00000371372,;CACNA1B,missense_variant,p.Leu24Pro,ENST00000277550,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	2343	46	33	SUCCESS
MIR31HG	554202	.	GRCh37	9	21455809	21455809	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000304425.3:n.577G>T		p.*193*	ENST00000304425				0	.	.	.	.	.	A	.	sense_overlapping	YES	.	.	MUTECT|MUSE	.	CCACACTTTAC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304425	Transcript	.	.	ENSG00000171889	37187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MIR31HG	HGNC	.	.	.	SNV	MIR31HG,non_coding_transcript_exon_variant,,ENST00000304425,;IFNWP19,non_coding_transcript_exon_variant,,ENST00000438727,;	577	8	11	SUCCESS
DRP2	1821	.	GRCh37	X	100513348	100513348	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	100	39	0	ENST00000395209.3:c.2441C>G	p.Ala814Gly	p.A814G	ENST00000395209	NM_001939.2	814	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS14480.2	2441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCTGAGG	NONE	.	.	hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205	.	.	ENSP00000378635	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000395209	Transcript	.	.	ENSG00000102385	3032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	DRP2_HUMAN	DRP2	HGNC	.	.	UPI000013D388	SNV	DRP2,missense_variant,p.Ala814Gly,ENST00000538510,;DRP2,missense_variant,p.Ala814Gly,ENST00000402866,;DRP2,missense_variant,p.Ala736Gly,ENST00000541709,;DRP2,missense_variant,p.Ala814Gly,ENST00000395209,;	2968	39	154	SUCCESS
ACTRT1	139741	.	GRCh37	X	127185963	127185963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	198	50	0	ENST00000371124.3:c.223G>A	p.Glu75Lys	p.E75K	ENST00000371124	NM_138289.3	75	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS14611.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTCAATGG	NONE	.	.	hmmpanther:PTHR11937:SF153,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000360165	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371124	Transcript	.	.	ENSG00000123165	24027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	deleterious(0.04)	.	ACTT1_HUMAN	ACTRT1	HGNC	.	.	UPI0000072276	SNV	ACTRT1,missense_variant,p.Glu75Lys,ENST00000371124,;	420	50	303	SUCCESS
BRCC3	79184	.	GRCh37	X	154299926	154299926	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	14	0	ENST00000369462.1:c.123+1G>A		p.X41_splice	ENST00000369462	NM_024332.3	41		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56611.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGTGAGT	NONE	.	.	.	.	.	ENSP00000358474	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369462	Transcript	.	.	ENSG00000185515	24185	.	.	HIGH	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRCC3_HUMAN	BRCC3	HGNC	.	.	UPI0000126C8F	SNV	BRCC3,splice_donor_variant,,ENST00000369462,;BRCC3,splice_donor_variant,,ENST00000411985,;BRCC3,splice_donor_variant,,ENST00000340647,;BRCC3,splice_donor_variant,,ENST00000369459,;BRCC3,splice_donor_variant,,ENST00000330045,;BRCC3,missense_variant,p.Val42Met,ENST00000399042,;MTCP1,intron_variant,,ENST00000362018,;CMC4,upstream_gene_variant,,ENST00000369484,;BRCC3,upstream_gene_variant,,ENST00000399026,;MTCP1,upstream_gene_variant,,ENST00000369476,;MTCP1,intron_variant,,ENST00000476116,;MTCP1,upstream_gene_variant,,ENST00000482244,;BRCC3,missense_variant,p.Val41Met,ENST00000453705,;	.	14	142	SUCCESS
ZFX	7543	.	GRCh37	X	24227055	24227104	+	frameshift_variant	Frame_Shift_Del	DEL	GCAAGTGCCCTCTTGCACATAGATGAGTCTGCTGGCCTCGGCAGACTGGC	GCAAGTGCCCTCTTGCACATAGATGAGTCTGCTGGCCTCGGCAGACTGGC	-	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	GCAAGTGCCCTCTTGCACATAGATGAGTCTGCTGGCCTCGGCAGACTGGC	GCAAGTGCCCTCTTGCACATAGATGAGTCTGCTGGCCTCGGCAGACTGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	18	71	75	0	ENST00000304543.5:c.1132_1181del	p.Ala378Ter	p.A378*	ENST00000304543		378	GCAAGTGCCCTCTTGCACATAGATGAGTCTGCTGGCCTCGGCAGACTGGCt/t	0	.	.	.	.	.	-	ASALLHIDESAGLGRLA/X	protein_coding	YES	CCDS14211.1	1132-1181	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCACTGCAAGTGCCCTCTTGCACATAGATGAGTCTGCTGGCCTCGGCAGACTGGCTAAAC	NONE	.	.	hmmpanther:PTHR24387:SF208,hmmpanther:PTHR24387,Pfam_domain:PF04704	.	.	ENSP00000368475	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000379177	Transcript	.	.	ENSG00000005889	12869	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFX_HUMAN	ZFX	HGNC	Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN	.	UPI000013C504	deletion	ZFX,frameshift_variant,p.Ala417Ter,ENST00000540034,;ZFX,frameshift_variant,p.Ala378Ter,ENST00000379188,;ZFX,frameshift_variant,p.Ala378Ter,ENST00000379177,;ZFX,frameshift_variant,p.Ala149Ter,ENST00000539115,;ZFX,frameshift_variant,p.Ala378Ter,ENST00000304543,;ZFX,frameshift_variant,p.Ala328Ter,ENST00000338565,;ZFX,non_coding_transcript_exon_variant,,ENST00000459724,;	1559-1608	75	89	SUCCESS
MAGEB6	158809	.	GRCh37	X	26212997	26212997	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs760719328	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	103	85	0	ENST00000379034.1:c.1034G>C	p.Arg345Pro	p.R345P	ENST00000379034	NM_173523.2	345	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS14217.1	1034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGGCAGG	NONE	byFrequency	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF67,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000368320	.	2/2	.	.	.	.	.	.	.	.	rs760719328	2/2	PASS	ENST00000379034	Transcript	.	.	ENSG00000176746	23796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.336)	.	deleterious(0.01)	.	MAGB6_HUMAN	MAGEB6	HGNC	.	.	UPI00001413F4	SNV	MAGEB6,missense_variant,p.Arg345Pro,ENST00000379034,;	1183	85	137	SUCCESS
CHDC2	0	.	GRCh37	X	36122659	36122659	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	409	19	209	0	ENST00000313548.4:c.896T>C	p.Met299Thr	p.M299T	ENST00000313548	NM_173695.2	299	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS14238.1	896	MUTECT|MUSE	.	TAATATGCCCC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4	.	.	ENSP00000324767	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000313548	Transcript	.	.	ENSG00000176034	26708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(0.19)	.	CHDC2_HUMAN	CHDC2	HGNC	.	.	UPI000006F5CD	SNV	CHDC2,missense_variant,p.Met299Thr,ENST00000313548,;CHDC2,missense_variant,p.Met475Thr,ENST00000378660,;	1082	209	429	SUCCESS
PNLIP	5406	.	GRCh37	10	118310666	118310666	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	58	239	0	ENST00000369221.2:c.381C>T	p.Ser127=	p.S127=	ENST00000369221	NM_000936.2	127	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7594.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCCGAAC	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF82,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821,Prints_domain:PR00823	.	.	ENSP00000358223	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000369221	Transcript	1	.	ENSG00000175535	9155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPP_HUMAN	PNLIP	HGNC	.	.	UPI000004F1A0	SNV	PNLIP,synonymous_variant,p.%3D,ENST00000369221,;PNLIP,non_coding_transcript_exon_variant,,ENST00000470562,;	409	239	109	SUCCESS
NEBL	10529	.	GRCh37	10	21074701	21074701	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769728098	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	98	0	ENST00000377122.4:c.3020C>T	p.Ala1007Val	p.A1007V	ENST00000377122	NM_006393.2	1007	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7134.1	3020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCGCTGGG	CODON|p.A1007A|c.3021G>A|3,CODON|p.A263A|c.789G>A|3	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR11039,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000366326	.	28/28	.	.	.	.	.	.	.	.	rs769728098	28/28	PASS	ENST00000377122	Transcript	.	.	ENSG00000078114	16932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,missense_variant,p.Ala1007Val,ENST00000377122,;NEBL,missense_variant,p.Ala229Val,ENST00000377159,;NEBL,missense_variant,p.Ala263Val,ENST00000417816,;	3417	98	82	SUCCESS
RTKN2	219790	.	GRCh37	10	63999451	63999451	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	345	17	308	0	ENST00000373789.3:c.444G>T	p.Val148=	p.V148=	ENST00000373789	NM_145307.2	148	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7263.1	444	MUTECT|MUSE	.	TTATCCACATT	NONE	.	.	Pfam_domain:PF08174,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF21	.	.	ENSP00000362894	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,synonymous_variant,p.%3D,ENST00000373789,;RTKN2,synonymous_variant,p.%3D,ENST00000395265,;RTKN2,synonymous_variant,p.%3D,ENST00000395260,;RTKN2,upstream_gene_variant,,ENST00000315289,;	541	308	362	SUCCESS
ATM	472	.	GRCh37	11	108127032	108127032	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	117	0	ENST00000278616.4:c.2215G>T	p.Glu739Ter	p.E739*	ENST00000278616	NM_000051.3	739	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31669.1	2215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGAAGCA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	14/63	.	.	.	.	.	.	.	.	.	14/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,stop_gained,p.Glu739Ter,ENST00000278616,;ATM,stop_gained,p.Glu739Ter,ENST00000527805,;ATM,stop_gained,p.Glu739Ter,ENST00000452508,;AP001925.1,downstream_gene_variant,,ENST00000596081,;ATM,downstream_gene_variant,,ENST00000533526,;ATM,downstream_gene_variant,,ENST00000525012,;	2600	118	105	SUCCESS
TRIM22	10346	.	GRCh37	11	5730736	5730736	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	75	288	0	ENST00000379965.3:c.1355G>A	p.Gly452Asp	p.G452D	ENST00000379965	NM_001199573.1	452	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS41612.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGCATTG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF265,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000369299	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000379965	Transcript	.	.	ENSG00000132274	16379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	tolerated(0.11)	.	TRI22_HUMAN	TRIM22	HGNC	C9JIU5_HUMAN,C9J060_HUMAN	.	UPI0000074222	SNV	TRIM22,missense_variant,p.Gly452Asp,ENST00000379965,;TRIM5,intron_variant,,ENST00000380027,;TRIM22,intron_variant,,ENST00000450670,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,intron_variant,,ENST00000444844,;TRIM22,intron_variant,,ENST00000429063,;TRIM22,downstream_gene_variant,,ENST00000454828,;TRIM22,downstream_gene_variant,,ENST00000493494,;TRIM22,downstream_gene_variant,,ENST00000480395,;TRIM22,downstream_gene_variant,,ENST00000414897,;	1632	288	286	SUCCESS
SNX15	29907	.	GRCh37	11	64806100	64806100	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	37	99	0	ENST00000377244.3:c.721T>A	p.Ser241Thr	p.S241T	ENST00000377244	NM_013306.4	241	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS8089.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTCTGCA	NONE	.	.	hmmpanther:PTHR15508	.	.	ENSP00000366452	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000377244	Transcript	.	.	ENSG00000110025	14978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.48)	.	SNX15_HUMAN	SNX15	HGNC	E5KQS5_HUMAN	.	UPI0000135B4B	SNV	SNX15,missense_variant,p.Ser241Thr,ENST00000377244,;SNX15,intron_variant,,ENST00000352068,;SAC3D1,upstream_gene_variant,,ENST00000529996,;SNX15,downstream_gene_variant,,ENST00000525648,;SNX15,downstream_gene_variant,,ENST00000534637,;SNX15,downstream_gene_variant,,ENST00000524831,;SAC3D1,upstream_gene_variant,,ENST00000531072,;SAC3D1,upstream_gene_variant,,ENST00000398846,;SAC3D1,upstream_gene_variant,,ENST00000533017,;SAC3D1,upstream_gene_variant,,ENST00000530213,;SAC3D1,upstream_gene_variant,,ENST00000528109,;RP11-399J13.3,3_prime_UTR_variant,,ENST00000301886,;SNX15,non_coding_transcript_exon_variant,,ENST00000526702,;SNX15,downstream_gene_variant,,ENST00000529673,;	851	99	111	SUCCESS
TRIM66	9866	.	GRCh37	11	8664672	8664672	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	50	0	ENST00000299550.6:c.671T>C	p.Ile224Thr	p.I224T	ENST00000299550	NM_014818.1	224	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	.	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAATCTGA	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121,SMART_domains:SM00502	.	.	ENSP00000384876	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Ile222Thr,ENST00000402157,;TRIM66,missense_variant,p.Ile224Thr,ENST00000299550,;TRIM66,downstream_gene_variant,,ENST00000529057,;TRIM66,downstream_gene_variant,,ENST00000531498,;TRIM66,splice_region_variant,,ENST00000481014,;	1106	50	29	SUCCESS
WNK1	65125	.	GRCh37	12	1009715	1009715	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	148	0	ENST00000315939.6:c.6522A>C	p.Pro2174=	p.P2174=	ENST00000315939	NM_018979.3	2174	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS8506.1	6522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCAGAGTC	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46	.	.	ENSP00000313059	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000315939	Transcript	.	.	ENSG00000060237	14540	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNK1_HUMAN	WNK1	HGNC	Q96CZ6_HUMAN	.	UPI000013CD65	SNV	WNK1,synonymous_variant,p.%3D,ENST00000315939,;WNK1,synonymous_variant,p.%3D,ENST00000535572,;WNK1,synonymous_variant,p.%3D,ENST00000340908,;WNK1,synonymous_variant,p.%3D,ENST00000530271,;WNK1,synonymous_variant,p.%3D,ENST00000537687,;WNK1,upstream_gene_variant,,ENST00000544559,;WNK1,upstream_gene_variant,,ENST00000543065,;WNK1,non_coding_transcript_exon_variant,,ENST00000542424,;WNK1,non_coding_transcript_exon_variant,,ENST00000537603,;	7165	148	129	SUCCESS
BTBD11	121551	.	GRCh37	12	107712667	107712667	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	29	2	ENST00000280758.5:c.-51C>A		p.*17*	ENST00000280758	NM_001018072.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31893.1	.	SOMATICSNIPER|VARSCANS	.	CCTCGCCGCTC	NONE	.	.	.	.	.	ENSP00000280758	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,5_prime_UTR_variant,,ENST00000280758,;BTBD11,5_prime_UTR_variant,,ENST00000420571,;BTBD11,upstream_gene_variant,,ENST00000415943,;BTBD11,upstream_gene_variant,,ENST00000490090,;BTBD11,upstream_gene_variant,,ENST00000550706,;	478	31	17	SUCCESS
KRT4	3851	.	GRCh37	12	53202117	53202117	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	35	258	0	ENST00000293774.4:c.1308C>A	p.Ile436=	p.I436=	ENST00000293774		436	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS41787.2	1086	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGATCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF85,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000448220	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000551956	Transcript	.	.	ENSG00000170477	6441	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K2C4_HUMAN	KRT4	HGNC	Q9UEK9_HUMAN	.	UPI00001AEBB1	SNV	KRT4,synonymous_variant,p.%3D,ENST00000458244,;KRT4,synonymous_variant,p.%3D,ENST00000293774,;KRT4,synonymous_variant,p.%3D,ENST00000551956,;KRT4,3_prime_UTR_variant,,ENST00000548097,;KRT4,downstream_gene_variant,,ENST00000551436,;KRT4,downstream_gene_variant,,ENST00000549295,;KRT4,downstream_gene_variant,,ENST00000552668,;	1579	258	239	SUCCESS
PDX1	3651	.	GRCh37	13	28498632	28498632	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1049166702	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	35	0	ENST00000381033.4:c.646G>A	p.Gly216Arg	p.G216R	ENST00000381033	NM_000209.3	216	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS9327.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF180	.	.	ENSP00000370421	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381033	Transcript	.	.	ENSG00000139515	6107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.203)	.	tolerated(0.1)	.	PDX1_HUMAN	PDX1	HGNC	.	.	UPI000012D7D9	SNV	PDX1,missense_variant,p.Gly216Arg,ENST00000381033,;PDX1-AS1,upstream_gene_variant,,ENST00000499662,;	765	35	31	SUCCESS
RB1	5925	.	GRCh37	13	48939032	48939033	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	224	112	454	0	ENST00000267163.4:c.869dup	p.Asn290LysfsTer20	p.N290Kfs*20	ENST00000267163	NM_000321.2	288	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS31973.1	864-865	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGTGAAAAA	NONE	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Asn290LysfsTer20,ENST00000267163,;RB1,downstream_gene_variant,,ENST00000467505,;RB1,downstream_gene_variant,,ENST00000525036,;	1002-1003	454	336	SUCCESS
ABCC4	10257	.	GRCh37	13	95887013	95887013	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	108	0	ENST00000376887.4:c.382T>G	p.Ser128Ala	p.S128A	ENST00000376887	NM_005845.3	128	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS9474.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGAATCCA	NONE	.	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50929	.	.	ENSP00000366084	.	4/31	.	.	.	.	.	.	.	.	.	4/31	PASS	ENST00000376887	Transcript	.	.	ENSG00000125257	55	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.26)	.	MRP4_HUMAN	ABCC4	HGNC	Q8IUA3_HUMAN	.	UPI00001A36E6	SNV	ABCC4,missense_variant,p.Ser128Ala,ENST00000431522,;ABCC4,missense_variant,p.Ser128Ala,ENST00000376887,;ABCC4,missense_variant,p.Ser128Ala,ENST00000412704,;ABCC4,3_prime_UTR_variant,,ENST00000538287,;ABCC4,intron_variant,,ENST00000536256,;	497	108	96	SUCCESS
ARHGEF40	55701	.	GRCh37	14	21552186	21552186	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777263222	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	140	0	ENST00000298694.4:c.3766G>A	p.Val1256Met	p.V1256M	ENST00000298694	NM_001278529.1	1256	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS32041.1	3766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGTGGAG	NONE	byFrequency	.	hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	.	.	ENSP00000298694	.	17/24	.	.	.	.	.	.	.	.	rs777263222	17/24	PASS	ENST00000298694	Transcript	.	.	ENSG00000165801	25516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(1)	.	ARH40_HUMAN	ARHGEF40	HGNC	.	.	UPI00001FCFB7	SNV	ARHGEF40,missense_variant,p.Val1256Met,ENST00000298694,;ARHGEF40,missense_variant,p.Val1256Met,ENST00000298693,;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,;ARHGEF40,3_prime_UTR_variant,,ENST00000553709,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000554514,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,;ARHGEF40,upstream_gene_variant,,ENST00000557498,;	3893	140	83	SUCCESS
NYNRIN	57523	.	GRCh37	14	24877718	24877718	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	28	0	ENST00000382554.3:c.842C>A	p.Ala281Glu	p.A281E	ENST00000382554	NM_025081.2	281	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS45090.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCAAACC	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	deleterious_low_confidence(0.04)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Ala281Glu,ENST00000382554,;NYNRIN,upstream_gene_variant,,ENST00000554505,;	1160	28	37	SUCCESS
KIAA0586	9786	.	GRCh37	14	58937380	58937380	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	21	169	0	ENST00000354386.6:c.2651T>A	p.Val884Asp	p.V884D	ENST00000354386	NM_001244189.1	884	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS58320.1	2651	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTCCTTT	NONE	.	.	hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2,Pfam_domain:PF15324	.	.	ENSP00000346359	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.268)	.	tolerated(0.16)	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	SNV	KIAA0586,missense_variant,p.Val755Asp,ENST00000261244,;KIAA0586,missense_variant,p.Val787Asp,ENST00000423743,;KIAA0586,missense_variant,p.Val884Asp,ENST00000354386,;KIAA0586,missense_variant,p.Val816Asp,ENST00000556134,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	2895	169	140	SUCCESS
SYNE2	23224	.	GRCh37	14	64596547	64596547	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	111	0	ENST00000344113.4:c.14067G>A	p.Val4689=	p.V4689=	ENST00000344113	NM_015180.4	4689	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9761.2	14067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTGGCCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	75/116	.	.	.	.	.	.	.	.	.	75/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000394768,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,synonymous_variant,p.%3D,ENST00000357395,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;	14297	111	106	SUCCESS
FAM71D	161142	.	GRCh37	14	67671395	67671395	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	G	G	A	rs546523990	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	83	255	0	ENST00000311864.3:c.501G>A	p.Trp167Ter	p.W167*	ENST00000311864	NM_173526.3	167	tgG/tgA	0	.	C:0	.	C:0	.	A	W/*	nonsense_mediated_decay	YES	CCDS9778.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGGTGGC	NONE	by1000G	.	hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF6,Pfam_domain:PF12480	C:0.001	.	ENSP00000431905	C:0	5/9	.	.	.	.	.	.	.	.	rs546523990	5/9	PASS	ENST00000311864	Transcript	.	C:0.0002	ENSG00000172717	20101	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	FA71D_HUMAN	FAM71D	HGNC	E9PPX0_HUMAN,E9PM27_HUMAN	.	UPI000013F210	SNV	FAM71D,upstream_gene_variant,,ENST00000556117,;FAM71D,downstream_gene_variant,,ENST00000530728,;FAM71D,upstream_gene_variant,,ENST00000557671,;FAM71D,downstream_gene_variant,,ENST00000524532,;FAM71D,downstream_gene_variant,,ENST00000531566,;FAM71D,stop_gained,p.Trp167Ter,ENST00000534174,;FAM71D,stop_gained,p.Trp167Ter,ENST00000311864,;FAM71D,3_prime_UTR_variant,,ENST00000556046,;FAM71D,downstream_gene_variant,,ENST00000524914,;RP11-125H8.1,downstream_gene_variant,,ENST00000553618,;	755	255	216	SUCCESS
ZFYVE1	53349	.	GRCh37	14	73437723	73437723	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1315812826	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	83	0	ENST00000556143.1:c.2201A>G	p.Lys734Arg	p.K734R	ENST00000556143	NM_021260.2	734	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS9811.1	2201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTTGGAG	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR22835:SF151,hmmpanther:PTHR22835,Gene3D:3.30.40.10,Pfam_domain:PF01363,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000450742	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000556143	Transcript	.	.	ENSG00000165861	13180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	deleterious(0.03)	.	ZFYV1_HUMAN	ZFYVE1	HGNC	.	.	UPI0000049888	SNV	ZFYVE1,missense_variant,p.Lys734Arg,ENST00000553891,;ZFYVE1,missense_variant,p.Lys720Arg,ENST00000318876,;ZFYVE1,missense_variant,p.Lys734Arg,ENST00000556143,;ZFYVE1,missense_variant,p.Lys319Arg,ENST00000394207,;ZFYVE1,missense_variant,p.Lys319Arg,ENST00000555072,;ZFYVE1,downstream_gene_variant,,ENST00000554145,;ZFYVE1,non_coding_transcript_exon_variant,,ENST00000556040,;ZFYVE1,downstream_gene_variant,,ENST00000556761,;	2922	83	82	SUCCESS
SPTLC2	9517	.	GRCh37	14	78021725	78021725	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	42	85	0	ENST00000216484.2:c.1094T>A	p.Leu365Gln	p.L365Q	ENST00000216484	NM_004863.3	365	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS9865.1	1094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCAGGCCA	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF00155,Gene3D:3.40.640.10,hmmpanther:PTHR13693:SF52,hmmpanther:PTHR13693	.	.	ENSP00000216484	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000216484	Transcript	.	.	ENSG00000100596	11278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0.01)	.	SPTC2_HUMAN	SPTLC2	HGNC	.	.	UPI0000000C6B	SNV	SPTLC2,missense_variant,p.Leu302Gln,ENST00000554901,;SPTLC2,missense_variant,p.Leu365Gln,ENST00000216484,;SPTLC2,upstream_gene_variant,,ENST00000556264,;SPTLC2,non_coding_transcript_exon_variant,,ENST00000554365,;SPTLC2,upstream_gene_variant,,ENST00000556607,;	1288	85	123	SUCCESS
RIN3	79890	.	GRCh37	14	93118696	93118696	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	150	0	ENST00000216487.7:c.1302G>A	p.Gln434=	p.Q434=	ENST00000216487	NM_024832.3	434	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS32144.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGGACAC	NONE	.	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101	.	.	ENSP00000216487	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000216487	Transcript	.	.	ENSG00000100599	18751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,synonymous_variant,p.%3D,ENST00000216487,;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	1461	150	105	SUCCESS
C16orf62	0	.	GRCh37	16	19567048	19567048	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	62	0	ENST00000438132.3:c.264G>T	p.Gly88=	p.G88=	ENST00000438132	NM_020314.5	88	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32397.2	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGAAGAT	NONE	.	.	.	.	.	ENSP00000400815	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000438132	Transcript	.	.	ENSG00000103544	24641	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C16orf62	HGNC	I3L1U5_HUMAN,H3BV68_HUMAN,E7EWW0_HUMAN	.	UPI0001E1129C	SNV	C16orf62,synonymous_variant,p.%3D,ENST00000542263,;C16orf62,synonymous_variant,p.%3D,ENST00000538853,;C16orf62,synonymous_variant,p.%3D,ENST00000438132,;C16orf62,coding_sequence_variant,p.%3D,ENST00000513947,;C16orf62,coding_sequence_variant,p.%3D,ENST00000567245,;C16orf62,5_prime_UTR_variant,,ENST00000417362,;C16orf62,5_prime_UTR_variant,,ENST00000251143,;C16orf62,intron_variant,,ENST00000544670,;CCP110,downstream_gene_variant,,ENST00000396212,;CCP110,downstream_gene_variant,,ENST00000381396,;CCP110,downstream_gene_variant,,ENST00000396208,;C16orf62,synonymous_variant,p.%3D,ENST00000539322,;C16orf62,synonymous_variant,p.%3D,ENST00000537186,;C16orf62,non_coding_transcript_exon_variant,,ENST00000543460,;CCP110,downstream_gene_variant,,ENST00000562616,;CCP110,downstream_gene_variant,,ENST00000567451,;	312	62	84	SUCCESS
PDZD9	255762	.	GRCh37	16	21995822	21995823	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	374	106	472	0	ENST00000424898.2:c.560dup	p.His187GlnfsTer4	p.H187Qfs*4	ENST00000424898		187	cat/caAt	0	.	.	.	.	.	T	H/QX	protein_coding	YES	CCDS10602.2	380-381	INDELOCATOR*|VARSCANI*|PINDEL	.	TATCCATGCCA	NONE	.	.	hmmpanther:PTHR22698	.	.	ENSP00000441685	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000537222	Transcript	.	.	ENSG00000155714	28740	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PDZD9	HGNC	F5GWW8_HUMAN	.	UPI0000E24140	insertion	PDZD9,frameshift_variant,p.His125GlnfsTer4,ENST00000286143,;PDZD9,frameshift_variant,p.His127GlnfsTer4,ENST00000537222,;PDZD9,frameshift_variant,p.His187GlnfsTer4,ENST00000424898,;UQCRC2,downstream_gene_variant,,ENST00000561553,;UQCRC2,downstream_gene_variant,,ENST00000268379,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000561798,;UQCRC2,downstream_gene_variant,,ENST00000563898,;	431-432	472	480	SUCCESS
ITGAM	3684	.	GRCh37	16	31284710	31284710	+	synonymous_variant	Silent	SNP	C	C	T	rs372119875	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	96	0	ENST00000287497.8:c.729C>T	p.Asn243=	p.N243=	ENST00000287497		243	aaC/aaT	0	T:0	T:0	.	T:0	.	T	N	protein_coding	YES	CCDS54004.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAACGGAGC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	T:0	T:0.0001	ENSP00000441691	T:0	8/30	.	.	.	.	.	.	.	.	rs372119875,COSM3690962	8/30	PASS	ENST00000544665	Transcript	.	T:0.0004	ENSG00000169896	6149	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.002	.	0,1	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,synonymous_variant,p.%3D,ENST00000287497,;ITGAM,synonymous_variant,p.%3D,ENST00000544665,;ITGAM,upstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000570242,;	800	96	88	SUCCESS
MYH4	4622	.	GRCh37	17	10369612	10369612	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777774759	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	124	394	0	ENST00000255381.2:c.326G>T	p.Arg109Leu	p.R109L	ENST00000255381	NM_017533.2	109	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11154.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAACGCTCT	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000255381	.	4/40	.	.	.	.	.	.	.	.	rs777774759	4/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Arg109Leu,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	437	394	381	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39274012	39274012	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772799383	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	137	168	0	ENST00000391413.2:c.556C>T	p.Arg186Cys	p.R186C	ENST00000391413	NM_033059.3	186	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45675.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGGGGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	rs772799383	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,missense_variant,p.Arg186Cys,ENST00000391413,;	595	168	241	SUCCESS
MTMR4	9110	.	GRCh37	17	56585600	56585600	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	52	0	ENST00000323456.5:c.587C>T	p.Pro196Leu	p.P196L	ENST00000323456	NM_004687.4	196	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11608.1	587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGGAACC	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000325285	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Pro196Leu,ENST00000323456,;MTMR4,missense_variant,p.Pro196Leu,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583243,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000579921,;MTMR4,3_prime_UTR_variant,,ENST00000582663,;MTMR4,non_coding_transcript_exon_variant,,ENST00000580983,;MTMR4,downstream_gene_variant,,ENST00000582390,;MTMR4,downstream_gene_variant,,ENST00000583966,;	712	52	49	SUCCESS
MRC2	9902	.	GRCh37	17	60765748	60765748	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	41	107	0	ENST00000303375.5:c.3045A>T	p.Thr1015=	p.T1015=	ENST00000303375	NM_006039.4	1015	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11634.1	3045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAAACCC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000307513	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,synonymous_variant,p.%3D,ENST00000303375,;MRC2,5_prime_UTR_variant,,ENST00000446119,;RNU6-446P,downstream_gene_variant,,ENST00000362827,;MRC2,upstream_gene_variant,,ENST00000580916,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;	3447	107	92	SUCCESS
ACE	1636	.	GRCh37	17	61556398	61556398	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	87	0	ENST00000290866.4:c.448A>G	p.Ile150Val	p.I150V	ENST00000290866	NM_000789.3	150	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11637.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGATCTAC	NONE	.	.	hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	.	.	ENSP00000290866	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000290866	Transcript	.	.	ENSG00000159640	2707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	ACE_HUMAN	ACE	HGNC	Q3KRI5_HUMAN,D3DU13_HUMAN	.	UPI000002B8AD	SNV	ACE,missense_variant,p.Ile150Val,ENST00000428043,;ACE,missense_variant,p.Ile150Val,ENST00000290866,;ACE,missense_variant,p.Ile150Val,ENST00000538928,;ACE,missense_variant,p.Ile150Val,ENST00000582627,;ACE,non_coding_transcript_exon_variant,,ENST00000584529,;ACE,downstream_gene_variant,,ENST00000583336,;ACE,3_prime_UTR_variant,,ENST00000580318,;ACE,intron_variant,,ENST00000582678,;ACE,downstream_gene_variant,,ENST00000579462,;	472	87	77	SUCCESS
ALOX12	239	.	GRCh37	17	6905064	6905064	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	84	0	ENST00000251535.6:c.1095C>T	p.His365=	p.H365=	ENST00000251535	NM_000697.2	365	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS11084.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCTGGT	NONE	.	.	Prints_domain:PR00087,Superfamily_domains:SSF48484,Pfam_domain:PF00305,Gene3D:1.20.245.10,PROSITE_patterns:PS00711,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF4,PROSITE_profiles:PS51393	.	.	ENSP00000251535	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000251535	Transcript	.	.	ENSG00000108839	429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOX12_HUMAN	ALOX12	HGNC	.	.	UPI000013CD03	SNV	ALOX12,synonymous_variant,p.%3D,ENST00000251535,;AC027763.2,3_prime_UTR_variant,,ENST00000399540,;AC027763.2,intron_variant,,ENST00000399541,;AC027763.2,intron_variant,,ENST00000575889,;AC027763.2,intron_variant,,ENST00000574377,;AC027763.2,intron_variant,,ENST00000575727,;ALOX12,downstream_gene_variant,,ENST00000480801,;AC027763.2,downstream_gene_variant,,ENST00000573939,;RP11-589P10.7,intron_variant,,ENST00000572547,;AC027763.2,intron_variant,,ENST00000572385,;AC027763.2,intron_variant,,ENST00000571010,;AC027763.2,intron_variant,,ENST00000570562,;	1148	84	64	SUCCESS
GABARAP	11337	.	GRCh37	17	7145590	7145610	+	inframe_deletion	In_Frame_Del	DEL	CTTCTCGCCCTCAGAGCGGCG	CTTCTCGCCCTCAGAGCGGCG	-	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	CTTCTCGCCCTCAGAGCGGCG	CTTCTCGCCCTCAGAGCGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	76	7	118	0	ENST00000302386.5:c.40_60del	p.Arg14_Lys20del	p.R14_K20del	ENST00000302386	NM_007278.1	14	CGCCGCTCTGAGGGCGAGAAG/-	0	.	.	.	.	.	-	RRSEGEK/-	protein_coding	YES	CCDS11092.1	40-60	INDELOCATOR|VARSCANI	.	TCGGATCTTCTCGCCCTCAGAGCGGCGCTTCT	NONE	.	.	hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF20,Pfam_domain:PF02991,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	.	.	ENSP00000306866	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000302386	Transcript	.	.	ENSG00000170296	4067	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRAP_HUMAN	GABARAP	HGNC	Q6IAW1_HUMAN,I3L236_HUMAN	.	UPI00000215FE	deletion	GABARAP,inframe_deletion,p.Arg14_Lys20del,ENST00000302386,;GABARAP,inframe_deletion,p.Arg14_Lys20del,ENST00000573928,;PHF23,upstream_gene_variant,,ENST00000454255,;GABARAP,upstream_gene_variant,,ENST00000571129,;PHF23,upstream_gene_variant,,ENST00000570899,;CTDNEP1,downstream_gene_variant,,ENST00000576613,;PHF23,upstream_gene_variant,,ENST00000572789,;PHF23,upstream_gene_variant,,ENST00000574323,;CTDNEP1,downstream_gene_variant,,ENST00000575783,;GABARAP,upstream_gene_variant,,ENST00000571253,;PHF23,upstream_gene_variant,,ENST00000574236,;CTDNEP1,downstream_gene_variant,,ENST00000574322,;PHF23,upstream_gene_variant,,ENST00000573826,;CTDNEP1,downstream_gene_variant,,ENST00000572043,;PHF23,upstream_gene_variant,,ENST00000320316,;GABARAP,upstream_gene_variant,,ENST00000577035,;CTDNEP1,downstream_gene_variant,,ENST00000571409,;CTDNEP1,downstream_gene_variant,,ENST00000573600,;CTDNEP1,downstream_gene_variant,,ENST00000318988,;CTDNEP1,downstream_gene_variant,,ENST00000570828,;PHF23,upstream_gene_variant,,ENST00000571362,;PHF23,upstream_gene_variant,,ENST00000576955,;PHF23,upstream_gene_variant,,ENST00000574407,;PHF23,upstream_gene_variant,,ENST00000570753,;PHF23,upstream_gene_variant,,ENST00000574899,;GABARAP,inframe_deletion,p.Arg14_Lys20del,ENST00000570856,;CTD-2545G14.7,intron_variant,,ENST00000570760,;RP1-4G17.5,downstream_gene_variant,,ENST00000577138,;CTDNEP1,downstream_gene_variant,,ENST00000570385,;CTDNEP1,downstream_gene_variant,,ENST00000574205,;CTDNEP1,downstream_gene_variant,,ENST00000570484,;CTDNEP1,downstream_gene_variant,,ENST00000570380,;	480-500	118	83	SUCCESS
KIF19	124602	.	GRCh37	17	72342619	72342619	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	72	131	0	ENST00000389916.4:c.880A>C	p.Lys294Gln	p.K294Q	ENST00000389916	NM_153209.3	294	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS32718.2	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAAGTAC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000374566	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	tolerated(0.17)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Lys294Gln,ENST00000389916,;KIF19,missense_variant,p.Lys252Gln,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1018	131	128	SUCCESS
QRICH2	84074	.	GRCh37	17	74287960	74287960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	49	155	0	ENST00000262765.5:c.2350G>A	p.Asp784Asn	p.D784N	ENST00000262765	NM_032134.1	784	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32741.1	2350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATCATGCA	NONE	.	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78	.	.	ENSP00000262765	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000262765	Transcript	.	.	ENSG00000129646	25326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious(0.03)	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,missense_variant,p.Asp784Asn,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;	2530	155	184	SUCCESS
AANAT	15	.	GRCh37	17	74465897	74465897	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770524125	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	59	0	ENST00000392492.3:c.469G>A	p.Ala157Thr	p.A157T	ENST00000392492	NM_001088.2	157	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54169.1	604	MUTECT|MUSE|VARSCANS	.	GGGCCGCGCTC	NONE	byFrequency	.	PROSITE_profiles:PS51186,hmmpanther:PTHR10908,hmmpanther:PTHR10908:SF0,Gene3D:3.40.630.30,Pfam_domain:PF00583,Superfamily_domains:SSF55729	.	.	ENSP00000250615	.	7/7	.	.	.	.	.	.	.	.	rs770524125	7/7	PASS	ENST00000250615	Transcript	.	.	ENSG00000129673	19	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.024)	.	tolerated(0.07)	.	.	AANAT	HGNC	Q9H3T0_HUMAN,Q9GZS4_HUMAN,J3KMZ5_HUMAN,F1T0I5_HUMAN	.	UPI000153D76E	SNV	AANAT,missense_variant,p.Ala202Thr,ENST00000250615,;AANAT,missense_variant,p.Ala157Thr,ENST00000392492,;RHBDF2,downstream_gene_variant,,ENST00000591885,;AANAT,downstream_gene_variant,,ENST00000585649,;RHBDF2,downstream_gene_variant,,ENST00000389760,;RHBDF2,downstream_gene_variant,,ENST00000591860,;RHBDF2,downstream_gene_variant,,ENST00000313080,;AANAT,3_prime_UTR_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000589582,;	1611	59	79	SUCCESS
AFMID	125061	.	GRCh37	17	76183419	76183419	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	46	0	ENST00000409257.5:c.-33A>G		p.*11*	ENST00000409257	NM_001010982.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45801.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACAGAGGG	NONE	.	24	.	.	.	ENSP00000328938	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327898	Transcript	.	.	ENSG00000183077	20910	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KFA_HUMAN	AFMID	HGNC	.	.	UPI000041A994	SNV	AFMID,5_prime_UTR_variant,,ENST00000409257,;AFMID,upstream_gene_variant,,ENST00000586542,;TK1,upstream_gene_variant,,ENST00000590862,;AFMID,upstream_gene_variant,,ENST00000586731,;TK1,upstream_gene_variant,,ENST00000586613,;TK1,upstream_gene_variant,,ENST00000590430,;TK1,upstream_gene_variant,,ENST00000405273,;AFMID,upstream_gene_variant,,ENST00000591256,;AFMID,upstream_gene_variant,,ENST00000588800,;AFMID,upstream_gene_variant,,ENST00000327898,;AFMID,upstream_gene_variant,,ENST00000591952,;AFMID,upstream_gene_variant,,ENST00000589256,;TK1,upstream_gene_variant,,ENST00000301634,;TK1,upstream_gene_variant,,ENST00000588734,;AFMID,upstream_gene_variant,,ENST00000591538,;AFMID,upstream_gene_variant,,ENST00000589107,;AFMID,upstream_gene_variant,,ENST00000592988,;TK1,upstream_gene_variant,,ENST00000592126,;AFMID,upstream_gene_variant,,ENST00000588199,;	.	46	63	SUCCESS
AFMID	125061	.	GRCh37	17	76198608	76198608	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	51	0	ENST00000409257.5:c.183G>A	p.Lys61=	p.K61=	ENST00000409257	NM_001010982.4	61	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS45801.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGAGCCT	NONE	.	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF118,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000328938	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000327898	Transcript	.	.	ENSG00000183077	20910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KFA_HUMAN	AFMID	HGNC	.	.	UPI000041A994	SNV	AFMID,synonymous_variant,p.%3D,ENST00000586542,;AFMID,synonymous_variant,p.%3D,ENST00000327898,;AFMID,synonymous_variant,p.%3D,ENST00000409257,;AFMID,synonymous_variant,p.%3D,ENST00000591256,;AFMID,intron_variant,,ENST00000588800,;AFMID,intron_variant,,ENST00000591952,;AFMID,downstream_gene_variant,,ENST00000586731,;AFMID,downstream_gene_variant,,ENST00000589256,;AFMID,non_coding_transcript_exon_variant,,ENST00000587750,;AFMID,non_coding_transcript_exon_variant,,ENST00000591538,;AFMID,upstream_gene_variant,,ENST00000589664,;AFMID,upstream_gene_variant,,ENST00000585419,;AFMID,synonymous_variant,p.%3D,ENST00000588199,;AFMID,3_prime_UTR_variant,,ENST00000589107,;AFMID,non_coding_transcript_exon_variant,,ENST00000592988,;	192	51	48	SUCCESS
KDM6B	23135	.	GRCh37	17	7750726	7750726	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	46	0	ENST00000448097.2:c.1213A>G	p.Ser405Gly	p.S405G	ENST00000448097		405	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS32552.1	1213	RADIA|VARSCANS	.	GCAGCAGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5	.	.	ENSP00000254846	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000254846	Transcript	.	.	ENSG00000132510	29012	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	KDM6B_HUMAN	KDM6B	HGNC	D3DTQ7_HUMAN	.	UPI00006C175B	SNV	KDM6B,missense_variant,p.Ser405Gly,ENST00000448097,;KDM6B,missense_variant,p.Ser339Gly,ENST00000570632,;KDM6B,missense_variant,p.Ser405Gly,ENST00000254846,;KDM6B,downstream_gene_variant,,ENST00000575521,;KDM6B,downstream_gene_variant,,ENST00000571047,;	1602	46	39	SUCCESS
OGFOD3	79701	.	GRCh37	17	80356196	80356196	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	75	0	ENST00000313056.5:c.700-1G>T		p.X234_splice	ENST00000313056	NM_024648.2	234		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11812.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACCTGAGG	NONE	.	.	.	.	.	ENSP00000330075	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000329197	Transcript	.	.	ENSG00000181396	26174	.	.	HIGH	7/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OGFD3_HUMAN	OGFOD3	HGNC	.	.	UPI00001AF029	SNV	OGFOD3,splice_acceptor_variant,,ENST00000582593,;OGFOD3,splice_acceptor_variant,,ENST00000329197,;OGFOD3,splice_acceptor_variant,,ENST00000583897,;OGFOD3,splice_acceptor_variant,,ENST00000583445,;OGFOD3,splice_acceptor_variant,,ENST00000577495,;OGFOD3,splice_acceptor_variant,,ENST00000313056,;RP13-20L14.4,downstream_gene_variant,,ENST00000579188,;OGFOD3,splice_acceptor_variant,,ENST00000580445,;OGFOD3,splice_acceptor_variant,,ENST00000579407,;OGFOD3,upstream_gene_variant,,ENST00000578586,;	.	75	82	SUCCESS
TXNL1	9352	.	GRCh37	18	54293689	54293689	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	65	200	0	ENST00000217515.6:c.99-1G>T		p.X33_splice	ENST00000217515	NM_004786.2	33		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11961.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCTGTTA	NONE	.	.	.	.	.	ENSP00000217515	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000217515	Transcript	.	.	ENSG00000091164	12436	.	.	HIGH	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXNL1_HUMAN	TXNL1	HGNC	K7EKG2_HUMAN,G3V1K0_HUMAN	.	UPI0000137838	SNV	TXNL1,splice_acceptor_variant,,ENST00000590954,;TXNL1,splice_acceptor_variant,,ENST00000540155,;TXNL1,splice_acceptor_variant,,ENST00000587613,;TXNL1,splice_acceptor_variant,,ENST00000586262,;TXNL1,splice_acceptor_variant,,ENST00000217515,;TXNL1,splice_acceptor_variant,,ENST00000587807,;	.	200	208	SUCCESS
SOCS6	9306	.	GRCh37	18	67992658	67992658	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	65	190	0	ENST00000397942.3:c.754G>A	p.Ala252Thr	p.A252T	ENST00000397942	NM_004232.3	252	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11998.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGCGGTT	NONE	.	.	hmmpanther:PTHR10385:SF25,hmmpanther:PTHR10385	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.44)	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,missense_variant,p.Ala252Thr,ENST00000397942,;SOCS6,missense_variant,p.Ala252Thr,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	1070	190	178	SUCCESS
USHBP1	83878	.	GRCh37	19	17373479	17373479	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771253779	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	53	0	ENST00000252597.3:c.524G>A	p.Arg175His	p.R175H	ENST00000252597	NM_031941.3	175	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12353.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCGAGCT	NONE	byFrequency	.	hmmpanther:PTHR23347:SF5,hmmpanther:PTHR23347	.	.	ENSP00000252597	.	4/13	.	.	.	.	.	.	.	.	rs771253779	4/13	PASS	ENST00000252597	Transcript	.	.	ENSG00000130307	24058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.21)	.	USBP1_HUMAN	USHBP1	HGNC	M0R3B1_HUMAN,M0R172_HUMAN	.	UPI000006F7A8	SNV	USHBP1,missense_variant,p.Arg175His,ENST00000252597,;USHBP1,missense_variant,p.Arg111His,ENST00000431146,;BABAM1,upstream_gene_variant,,ENST00000595632,;BABAM1,upstream_gene_variant,,ENST00000599057,;BABAM1,upstream_gene_variant,,ENST00000601043,;USHBP1,downstream_gene_variant,,ENST00000594190,;BABAM1,upstream_gene_variant,,ENST00000598188,;BABAM1,upstream_gene_variant,,ENST00000596335,;BABAM1,upstream_gene_variant,,ENST00000601436,;BABAM1,upstream_gene_variant,,ENST00000447614,;BABAM1,upstream_gene_variant,,ENST00000599474,;BABAM1,upstream_gene_variant,,ENST00000359435,;USHBP1,downstream_gene_variant,,ENST00000598309,;USHBP1,non_coding_transcript_exon_variant,,ENST00000598570,;BABAM1,upstream_gene_variant,,ENST00000448635,;USHBP1,downstream_gene_variant,,ENST00000595993,;USHBP1,missense_variant,p.Arg175His,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;BABAM1,upstream_gene_variant,,ENST00000601171,;USHBP1,downstream_gene_variant,,ENST00000596436,;CTD-2278I10.6,upstream_gene_variant,,ENST00000596542,;USHBP1,downstream_gene_variant,,ENST00000600286,;BABAM1,upstream_gene_variant,,ENST00000594247,;BABAM1,upstream_gene_variant,,ENST00000595393,;	698	53	21	SUCCESS
PSG1	5669	.	GRCh37	19	43372015	43372015	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	95	0	ENST00000436291.2:c.1243+238G>A		p.*415*	ENST00000436291	NM_001184826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12612.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCAATGA	NONE	.	.	.	.	.	ENSP00000244296	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000244296	Transcript	.	.	ENSG00000231924	9514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSG1_HUMAN	PSG1	HGNC	Q9UMI0_HUMAN,M0QY44_HUMAN	.	UPI0000001071	SNV	PSG1,3_prime_UTR_variant,,ENST00000244296,;PSG1,intron_variant,,ENST00000595356,;PSG1,intron_variant,,ENST00000312439,;PSG1,intron_variant,,ENST00000436291,;PSG1,intron_variant,,ENST00000595124,;PSG1,intron_variant,,ENST00000403380,;PSG1,downstream_gene_variant,,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,intron_variant,,ENST00000602039,;	1619	95	47	SUCCESS
ZNF112	7771	.	GRCh37	19	44833097	44833097	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	48	205	0	ENST00000337401.4:c.1231G>A	p.Glu411Lys	p.E411K	ENST00000337401	NM_001083335.1	411	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS54276.1	1231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCAGTGT	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF1,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000337081	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337401	Transcript	.	.	ENSG00000062370	12892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.11)	.	ZN112_HUMAN	ZNF112	HGNC	Q9UFH1_HUMAN,K7ENS0_HUMAN,K7EN57_HUMAN	.	UPI000006EC70	SNV	ZNF112,missense_variant,p.Glu428Lys,ENST00000536500,;ZNF112,missense_variant,p.Glu411Lys,ENST00000337401,;ZNF112,missense_variant,p.Glu405Lys,ENST00000354340,;ZNF112,downstream_gene_variant,,ENST00000587909,;CTC-512J12.6,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000588057,;ZNF112,downstream_gene_variant,,ENST00000592151,;	1320	205	143	SUCCESS
CPT1C	126129	.	GRCh37	19	50209501	50209501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	47	0	ENST00000323446.5:c.1174C>A	p.Gln392Lys	p.Q392K	ENST00000323446	NM_152359.2	392	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS12779.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCAGGTG	NONE	.	.	Superfamily_domains:SSF52777,Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55	.	.	ENSP00000376303	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000392518	Transcript	.	.	ENSG00000169169	18540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated(0.77)	.	CPT1C_HUMAN	CPT1C	HGNC	M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN	.	UPI0000071C78	SNV	CPT1C,missense_variant,p.Gln14Lys,ENST00000595031,;CPT1C,missense_variant,p.Gln392Lys,ENST00000598293,;CPT1C,missense_variant,p.Gln392Lys,ENST00000323446,;CPT1C,missense_variant,p.Gln392Lys,ENST00000392518,;CPT1C,missense_variant,p.Gln392Lys,ENST00000354199,;CPT1C,missense_variant,p.Gln381Lys,ENST00000405931,;CPT1C,downstream_gene_variant,,ENST00000598396,;CPT1C,downstream_gene_variant,,ENST00000595969,;CPT1C,downstream_gene_variant,,ENST00000594587,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;CPT1C,non_coding_transcript_exon_variant,,ENST00000596701,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599023,;CPT1C,non_coding_transcript_exon_variant,,ENST00000295404,;CPT1C,downstream_gene_variant,,ENST00000595568,;CPT1C,downstream_gene_variant,,ENST00000594431,;	1546	47	56	SUCCESS
TSEN34	79042	.	GRCh37	19	54697194	54697194	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	112	0	ENST00000302937.4:c.910C>G	p.Leu304Val	p.L304V	ENST00000302937	NM_024075.3	304	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS42609.1	910	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCTGCAA	NONE	.	.	Superfamily_domains:SSF53032,PIRSF_domain:PIRSF017250,Gene3D:3.40.1350.10,TIGRFAM_domain:TIGR00324,hmmpanther:PTHR13070	.	.	ENSP00000379667	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.831)	.	deleterious(0)	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,missense_variant,p.Leu304Val,ENST00000396383,;TSEN34,missense_variant,p.Leu304Val,ENST00000396388,;TSEN34,missense_variant,p.Leu304Val,ENST00000302937,;TSEN34,intron_variant,,ENST00000429671,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;TSEN34,downstream_gene_variant,,ENST00000455798,;MBOAT7,upstream_gene_variant,,ENST00000414665,;TSEN34,downstream_gene_variant,,ENST00000456872,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;	1221	112	76	SUCCESS
MUC16	94025	.	GRCh37	19	9062181	9062181	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	65	226	0	ENST00000397910.4:c.25265G>A	p.Ser8422Asn	p.S8422N	ENST00000397910	NM_024690.2	8422	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS54212.1	25265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCTGGTC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser8422Asn,ENST00000397910,;	25469	226	109	SUCCESS
COL11A1	1301	.	GRCh37	1	103364262	103364262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	303	51	172	0	ENST00000370096.3:c.4208A>T	p.Lys1403Met	p.K1403M	ENST00000370096	NM_001854.3	1403	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS778.1	4208	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTTTCCT	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000359114	.	56/67	.	.	.	.	.	.	.	.	.	56/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Lys1287Met,ENST00000512756,;COL11A1,missense_variant,p.Lys1364Met,ENST00000353414,;COL11A1,missense_variant,p.Lys1403Met,ENST00000370096,;COL11A1,missense_variant,p.Lys1415Met,ENST00000358392,;	4521	172	355	SUCCESS
ADORA3	140	.	GRCh37	1	112042758	112042758	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	279	16	181	1	ENST00000241356.4:c.771T>A	p.Gly257=	p.G257=	ENST00000241356	NM_000677.3	257	ggT/ggA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS838.1	.	MUTECT|MUSE	.	ACCTCACCATT	NONE	.	.	.	.	.	ENSP00000358730	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369716	Transcript	.	.	ENSG00000121933	268	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AA3R_HUMAN	ADORA3	HGNC	.	.	UPI000004C602	SNV	ADORA3,synonymous_variant,p.%3D,ENST00000241356,;ADORA3,intron_variant,,ENST00000369716,;ADORA3,intron_variant,,ENST00000443498,;ADORA3,intron_variant,,ENST00000369717,;ADORA3,non_coding_transcript_exon_variant,,ENST00000495493,;ADORA3,downstream_gene_variant,,ENST00000486342,;	.	182	295	SUCCESS
NOTCH2	4853	.	GRCh37	1	120539927	120539927	+	synonymous_variant	Silent	SNP	G	G	A	rs587603360	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	369	275	1	ENST00000256646.2:c.444C>T	p.Cys148=	p.C148=	ENST00000256646	NM_024408.3	148	tgC/tgT	0	.	A:0.0008	.	A:0	.	A	C	protein_coding	YES	CCDS908.1	444	RADIA|SOMATICSNIPER|VARSCANS	.	GACAGGCAGGC	NONE	by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,Gene3D:2gy5A03,SMART_domains:SM00179,PIRSF_domain:PIRSF002279,SMART_domains:SM00181,Superfamily_domains:SSF57196	A:0	.	ENSP00000256646	A:0	4/34	.	.	.	.	.	.	.	.	rs587603360	4/34	PASS	ENST00000256646	Transcript	.	A:0.0002	ENSG00000134250	7882	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,synonymous_variant,p.%3D,ENST00000256646,;NOTCH2,synonymous_variant,p.%3D,ENST00000602566,;NOTCH2,non_coding_transcript_exon_variant,,ENST00000479412,;	664	276	544	SUCCESS
RP11-315I20.1	0	.	GRCh37	1	145497479	145497479	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	416	61	188	0	ENST00000598354.1:n.560-6926C>T		p.*187*	ENST00000598354		228		0	.	.	.	.	.	A	L	protein_coding	YES	CCDS915.1	684	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGGAGTT	NONE	.	.	hmmpanther:PTHR31139,Pfam_domain:PF14954	.	.	ENSP00000358314	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000369308	Transcript	.	.	ENSG00000152022	28715	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIX1L_HUMAN	LIX1L	HGNC	.	.	UPI0000074663	SNV	LIX1L,synonymous_variant,p.%3D,ENST00000369308,;RP11-315I20.1,intron_variant,,ENST00000448561,;RP11-315I20.1,intron_variant,,ENST00000598103,;RP11-315I20.1,intron_variant,,ENST00000599147,;RP11-315I20.1,intron_variant,,ENST00000595494,;RP11-315I20.1,intron_variant,,ENST00000595518,;RP11-315I20.1,intron_variant,,ENST00000599469,;RP11-315I20.1,intron_variant,,ENST00000421764,;RP11-315I20.1,intron_variant,,ENST00000598354,;RP11-315I20.1,intron_variant,,ENST00000437797,;RP11-315I20.1,intron_variant,,ENST00000412239,;RP11-315I20.1,intron_variant,,ENST00000597144,;RP11-315I20.1,intron_variant,,ENST00000601726,;RP11-315I20.1,intron_variant,,ENST00000599626,;RP11-315I20.1,intron_variant,,ENST00000600340,;RP11-315I20.1,upstream_gene_variant,,ENST00000437207,;RP11-315I20.1,upstream_gene_variant,,ENST00000366105,;	758	189	477	SUCCESS
ITGA10	8515	.	GRCh37	1	145530929	145530929	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782387856	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	402	18	155	0	ENST00000369304.3:c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000369304	NM_003637.3	221	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS918.1	661	MUTECT|MUSE	.	TGGGAGATTTC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000358310	.	7/30	.	.	.	.	.	.	.	.	rs782387856,COSM423698	7/30	PASS	ENST00000369304	Transcript	.	.	ENSG00000143127	6135	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.992)	.	deleterious(0)	0,1	ITA10_HUMAN	ITGA10	HGNC	.	.	UPI000013D8D1	SNV	ITGA10,missense_variant,p.Asp90Tyr,ENST00000538811,;ITGA10,missense_variant,p.Asp78Tyr,ENST00000539363,;ITGA10,missense_variant,p.Asp221Tyr,ENST00000369304,;ITGA10,upstream_gene_variant,,ENST00000481236,;ITGA10,downstream_gene_variant,,ENST00000468261,;	836	155	421	SUCCESS
CTSK	1513	.	GRCh37	1	150778691	150778691	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	236	120	1	ENST00000271651.3:c.130A>G	p.Ile44Val	p.I44V	ENST00000271651	NM_000396.3	44	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS969.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATTTCAT	NONE	.	.	hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF55,Pfam_domain:PF08246,Gene3D:3.90.70.10,SMART_domains:SM00848,Superfamily_domains:SSF54001	.	.	ENSP00000271651	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000271651	Transcript	.	.	ENSG00000143387	2536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.65)	.	CATK_HUMAN	CTSK	HGNC	.	.	UPI0000000DFB	SNV	CTSK,missense_variant,p.Ile44Val,ENST00000271651,;CTSK,missense_variant,p.Ile103Val,ENST00000443913,;ARNT,downstream_gene_variant,,ENST00000358595,;ARNT,downstream_gene_variant,,ENST00000354396,;CTSK,intron_variant,,ENST00000480670,;ARNT,downstream_gene_variant,,ENST00000471844,;	241	121	308	SUCCESS
LCE1F	353137	.	GRCh37	1	152748869	152748869	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	572	241	0	ENST00000334371.2:c.22C>A	p.Gln8Lys	p.Q8K	ENST00000334371	NM_178354.2	8	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1023.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Prints_domain:PR00021	.	.	ENSP00000334187	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334371	Transcript	.	.	ENSG00000240386	29467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.78)	.	LCE1F_HUMAN	LCE1F	HGNC	.	.	UPI0000192764	SNV	LCE1F,missense_variant,p.Gln8Lys,ENST00000334371,;	22	242	754	SUCCESS
SLC9C2	284525	.	GRCh37	1	173526509	173526509	+	synonymous_variant	Silent	SNP	G	G	A	rs761843503	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	797	93	331	0	ENST00000367714.3:c.1185C>T	p.Leu395=	p.L395=	ENST00000367714	NM_178527.3	395	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1308.1	1185	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGAGATT	BUFFER|p.R398Q|c.1193G>A|4	byFrequency	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110,Pfam_domain:PF00999	.	.	ENSP00000356687	.	10/28	.	.	.	.	.	.	.	.	rs761843503,COSM530940	10/28	common_in_exac	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,synonymous_variant,p.%3D,ENST00000367714,;SLC9C2,synonymous_variant,p.%3D,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	1608	331	890	SUCCESS
LDLRAD2	401944	.	GRCh37	1	22141047	22141047	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	48	0	ENST00000344642.2:c.242T>A	p.Phe81Tyr	p.F81Y	ENST00000344642	NM_001013693.2	81	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS30624.1	242	MUTECT|VARSCANS	.	CCAGTTCCGCT	NONE	.	.	hmmpanther:PTHR24652:SF54,hmmpanther:PTHR24652,Gene3D:2.60.120.290,Superfamily_domains:SSF49854	.	.	ENSP00000340988	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000344642	Transcript	.	.	ENSG00000187942	32071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	LRAD2_HUMAN	LDLRAD2	HGNC	.	.	UPI0000470177	SNV	LDLRAD2,missense_variant,p.Phe81Tyr,ENST00000344642,;LDLRAD2,missense_variant,p.Phe81Tyr,ENST00000543870,;	429	48	45	SUCCESS
CNKSR1	10256	.	GRCh37	1	26514760	26514760	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	37	103	0	ENST00000374253.5:c.1511A>G	p.Tyr504Cys	p.Y504C	ENST00000374253	NM_006314.2	504	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS276.1	1490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTACCAGT	NONE	.	.	SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10	.	.	ENSP00000354609	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000361530	Transcript	.	.	ENSG00000142675	19700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CNKR1_HUMAN	CNKSR1	HGNC	Q53GM7_HUMAN,G3V160_HUMAN	.	UPI0000366501	SNV	CNKSR1,missense_variant,p.Tyr239Cys,ENST00000531191,;CNKSR1,missense_variant,p.Tyr497Cys,ENST00000361530,;CNKSR1,missense_variant,p.Tyr504Cys,ENST00000374253,;CATSPER4,upstream_gene_variant,,ENST00000338855,;CATSPER4,upstream_gene_variant,,ENST00000456354,;CNKSR1,downstream_gene_variant,,ENST00000528001,;CNKSR1,3_prime_UTR_variant,,ENST00000482227,;CNKSR1,3_prime_UTR_variant,,ENST00000528281,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000480617,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000484874,;CATSPER4,upstream_gene_variant,,ENST00000518899,;CNKSR1,downstream_gene_variant,,ENST00000531150,;CNKSR1,downstream_gene_variant,,ENST00000481077,;CNKSR1,downstream_gene_variant,,ENST00000525687,;	1635	103	69	SUCCESS
ARID1A	8289	.	GRCh37	1	27056354	27056354	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	112	292	0	ENST00000324856.7:c.1350G>A		p.X450_splice	ENST00000324856	NM_006015.4	450	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS285.1	1350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGGTAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,synonymous_variant,p.%3D,ENST00000524572,;ARID1A,synonymous_variant,p.%3D,ENST00000457599,;ARID1A,synonymous_variant,p.%3D,ENST00000374152,;ARID1A,synonymous_variant,p.%3D,ENST00000324856,;	1721	292	195	SUCCESS
PTPRU	10076	.	GRCh37	1	29641992	29641992	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	39	142	0	ENST00000345512.3:c.3366C>T	p.Ser1122=	p.S1122=	ENST00000345512	NM_005704.4	1122	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS334.1	3366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCCGGCG	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF207,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000334941	.	24/31	.	.	.	.	.	.	.	.	.	24/31	PASS	ENST00000345512	Transcript	.	.	ENSG00000060656	9683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRU_HUMAN	PTPRU	HGNC	B3KT29_HUMAN	.	UPI000013C57E	SNV	PTPRU,synonymous_variant,p.%3D,ENST00000373779,;PTPRU,synonymous_variant,p.%3D,ENST00000428026,;PTPRU,synonymous_variant,p.%3D,ENST00000460170,;PTPRU,synonymous_variant,p.%3D,ENST00000323874,;PTPRU,synonymous_variant,p.%3D,ENST00000356870,;PTPRU,synonymous_variant,p.%3D,ENST00000345512,;PTPRU,downstream_gene_variant,,ENST00000415600,;PTPRU,upstream_gene_variant,,ENST00000493601,;PTPRU,upstream_gene_variant,,ENST00000465525,;PTPRU,downstream_gene_variant,,ENST00000526080,;	3495	142	70	SUCCESS
AK2	204	.	GRCh37	1	33478978	33478978	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1243124080	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	147	0	ENST00000354858.6:c.524G>A	p.Arg175Gln	p.R175Q	ENST00000354858	NM_001625.3	175	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS374.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCGACGG	NONE	.	.	HAMAP:MF_00235,HAMAP:MF_03168,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF69,Gene3D:3.40.50.300,Pfam_domain:PF00406,Pfam_domain:PF05191,TIGRFAM_domain:TIGR01351,Superfamily_domains:SSF52540,Prints_domain:PR00094	.	.	ENSP00000346921	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000354858	Transcript	.	.	ENSG00000004455	362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.095)	.	deleterious(0.01)	.	KAD2_HUMAN	AK2	HGNC	F8W1A4_HUMAN	.	UPI000016781E	SNV	AK2,missense_variant,p.Arg175Gln,ENST00000354858,;AK2,missense_variant,p.Arg133Gln,ENST00000548033,;AK2,missense_variant,p.Arg175Gln,ENST00000467905,;AK2,missense_variant,p.Arg175Gln,ENST00000373449,;AK2,3_prime_UTR_variant,,ENST00000480134,;RP1-117O3.2,intron_variant,,ENST00000427524,;AK2,upstream_gene_variant,,ENST00000491241,;AK2,3_prime_UTR_variant,,ENST00000550338,;AK2,downstream_gene_variant,,ENST00000469238,;AK2,downstream_gene_variant,,ENST00000466029,;AK2,upstream_gene_variant,,ENST00000482191,;	688	147	95	SUCCESS
ASIP	434	.	GRCh37	20	32856830	32856830	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	33	0	ENST00000374954.3:c.256C>A	p.Arg86=	p.R86=	ENST00000374954	NM_001672.2	86	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13232.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCGGACC	NONE	.	.	hmmpanther:PTHR16551,hmmpanther:PTHR16551:SF1,Gene3D:4.10.760.10,Pfam_domain:PF05039,SMART_domains:SM00792	.	.	ENSP00000454804	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000568305	Transcript	1	.	ENSG00000101440	745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASIP_HUMAN	ASIP	HGNC	.	.	UPI0000125705	SNV	ASIP,synonymous_variant,p.%3D,ENST00000568305,;ASIP,synonymous_variant,p.%3D,ENST00000374954,;RP4-785G19.5,intron_variant,,ENST00000512005,;	458	33	47	SUCCESS
NCOA6	23054	.	GRCh37	20	33337355	33337355	+	synonymous_variant	Silent	SNP	C	C	T	rs147990465	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	126	423	1	ENST00000359003.2:c.2643G>A	p.Thr881=	p.T881=	ENST00000359003	NM_014071.3	881	acG/acA	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS13241.1	2643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGCGTGAC	NONE	byCluster	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	T:0.0001	ENSP00000363929	.	10/16	.	.	.	.	.	.	.	.	rs147990465	10/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,synonymous_variant,p.%3D,ENST00000374796,;NCOA6,synonymous_variant,p.%3D,ENST00000359003,;	5214	424	333	SUCCESS
RPRD1B	58490	.	GRCh37	20	36687860	36687860	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	50	148	0	ENST00000373433.4:c.593G>C	p.Arg198Pro	p.R198P	ENST00000373433	NM_021215.3	198	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS13301.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCGACAGA	NONE	.	.	hmmpanther:PTHR12460	.	.	ENSP00000362532	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000373433	Transcript	.	.	ENSG00000101413	16209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	RPR1B_HUMAN	RPRD1B	HGNC	.	.	UPI00001285EB	SNV	RPRD1B,missense_variant,p.Arg80Pro,ENST00000449186,;RPRD1B,missense_variant,p.Arg198Pro,ENST00000373433,;RPRD1B,3_prime_UTR_variant,,ENST00000462548,;RPRD1B,downstream_gene_variant,,ENST00000495457,;	995	148	140	SUCCESS
SDC4	6385	.	GRCh37	20	43977033	43977033	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs760647418	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	15	0	ENST00000372733.3:c.-9C>T		p.*3*	ENST00000372733	NM_002999.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13350.1	.	MUTECT|MUSE	.	ACCGCGGACTG	NONE	byFrequency	.	.	.	.	ENSP00000361818	.	1/5	.	.	.	.	.	.	.	.	rs760647418	1/5	PASS	ENST00000372733	Transcript	.	.	ENSG00000124145	10661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SDC4_HUMAN	SDC4	HGNC	B4E1S6_HUMAN	.	UPI000003B45C	SNV	SDC4,5_prime_UTR_variant,,ENST00000372733,;SDC4,5_prime_UTR_variant,,ENST00000537976,;	32	15	18	SUCCESS
MOCS3	27304	.	GRCh37	20	49576556	49576556	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	87	0	ENST00000244051.1:c.1177A>T	p.Ile393Phe	p.I393F	ENST00000244051	NM_014484.4	393	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS13435.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAATCTGG	NONE	.	.	HAMAP:MF_03049,PROSITE_profiles:PS50206,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF102,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF69572	.	.	ENSP00000244051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244051	Transcript	.	.	ENSG00000124217	15765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.09)	.	MOCS3_HUMAN	MOCS3	HGNC	.	.	UPI000012F369	SNV	MOCS3,missense_variant,p.Ile393Phe,ENST00000244051,;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000371588,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000466152,;	1194	87	71	SUCCESS
CRLS1	54675	.	GRCh37	20	5987924	5987945	+	intron_variant	Intron	DEL	CAGATCCTGGCAGGGGTCTCAA	CAGATCCTGGCAGGGGTCTCAA	-	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	CAGATCCTGGCAGGGGTCTCAA	CAGATCCTGGCAGGGGTCTCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	104	0	ENST00000378863.4:c.306+727_306+748del		p.*102*	ENST00000378863	NM_019095.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13096.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGCCAGATCCTGGCAGGGGTCTCAACTCCA	NONE	.	.	.	.	.	ENSP00000368140	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378863	Transcript	.	.	ENSG00000088766	16148	1	.	MODIFIER	1/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CRLS1_HUMAN	CRLS1	HGNC	.	.	UPI000003B001	deletion	CRLS1,5_prime_UTR_variant,,ENST00000378868,;CRLS1,intron_variant,,ENST00000452938,;CRLS1,intron_variant,,ENST00000378863,;CRLS1,upstream_gene_variant,,ENST00000489345,;CRLS1,non_coding_transcript_exon_variant,,ENST00000609154,;	.	104	71	SUCCESS
BAGE2	85319	.	GRCh37	21	11049535	11049535	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	16	339	0	ENST00000470054.1:n.574C>G		p.*192*	ENST00000470054				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	TCCATGATAGT	NONE	.	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	574	339	215	SUCCESS
IGLV5-48	28780	.	GRCh37	22	22707509	22707509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	111	0	ENST00000390293.1:c.97C>A	p.Pro33Thr	p.P33T	ENST00000390293		33	Cct/Act	0	.	.	.	.	.	A	P/T	IG_V_gene	YES	.	97	MUTECT|SOMATICSNIPER|VARSCANS	.	CATCTCCTGGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF147,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374828	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390293	Transcript	.	.	ENSG00000211647	5925	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.396)	.	tolerated(0.17)	.	.	IGLV5-48	HGNC	A2MYC9_HUMAN	.	UPI0000F30333	SNV	IGLV5-48,missense_variant,p.Pro33Thr,ENST00000390293,;IGLV1-47,upstream_gene_variant,,ENST00000390294,;LL22NC03-75A1.9,downstream_gene_variant,,ENST00000440829,;	97	111	84	SUCCESS
IGLV5-48	28780	.	GRCh37	22	22707510	22707510	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	112	0	ENST00000390293.1:c.98C>A	p.Pro33His	p.P33H	ENST00000390293		33	cCt/cAt	0	.	.	.	.	.	A	P/H	IG_V_gene	YES	.	98	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCTGGAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF147,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374828	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390293	Transcript	.	.	ENSG00000211647	5925	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.846)	.	deleterious(0.02)	.	.	IGLV5-48	HGNC	A2MYC9_HUMAN	.	UPI0000F30333	SNV	IGLV5-48,missense_variant,p.Pro33His,ENST00000390293,;IGLV1-47,upstream_gene_variant,,ENST00000390294,;LL22NC03-75A1.9,downstream_gene_variant,,ENST00000440829,;	98	112	88	SUCCESS
MN1	4330	.	GRCh37	22	28193394	28193394	+	synonymous_variant	Silent	SNP	C	C	T	rs1394727358	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	63	0	ENST00000302326.4:c.3138G>A	p.Ser1046=	p.S1046=	ENST00000302326	NM_002430.2	1046	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS42998.1	3138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCCGAGGC	NONE	.	.	hmmpanther:PTHR15821	.	.	ENSP00000304956	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302326	Transcript	.	.	ENSG00000169184	7180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MN1_HUMAN	MN1	HGNC	A5HML1_HUMAN	.	UPI0000207445	SNV	MN1,synonymous_variant,p.%3D,ENST00000302326,;MN1,upstream_gene_variant,,ENST00000424656,;	4093	63	63	SUCCESS
TRIOBP	11078	.	GRCh37	22	38121089	38121089	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	92	314	0	ENST00000406386.3:c.2526T>A	p.Asp842Glu	p.D842E	ENST00000406386	NM_001039141.2	842	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS43015.1	2526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGATAACCT	NONE	.	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.28)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Asp842Glu,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	2781	314	234	SUCCESS
E2F6	1876	.	GRCh37	2	11587894	11587894	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs371114161	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	54	243	0	ENST00000381525.3:c.658A>G	p.Ile220Val	p.I220V	ENST00000381525	NM_001278278.1	220	Atc/Gtc	0	C:0.0003	.	.	.	.	C	I/V	protein_coding	YES	CCDS1680.2	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGATAGAGT	NONE	byCluster	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF19,Superfamily_domains:SSF144074	.	C:0	ENSP00000370936	.	6/7	.	.	.	.	.	.	.	.	rs371114161	6/7	PASS	ENST00000381525	Transcript	.	.	ENSG00000169016	3120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.16)	.	E2F6_HUMAN	E2F6	HGNC	Q6Q9Z5_HUMAN,Q53YM3_HUMAN	.	UPI0000000C90	SNV	E2F6,missense_variant,p.Ile145Val,ENST00000542100,;E2F6,missense_variant,p.Ile188Val,ENST00000307236,;E2F6,missense_variant,p.Ile145Val,ENST00000546212,;E2F6,missense_variant,p.Ile220Val,ENST00000381525,;E2F6,synonymous_variant,p.%3D,ENST00000362009,;E2F6,3_prime_UTR_variant,,ENST00000421117,;E2F6,3_prime_UTR_variant,,ENST00000444832,;E2F6,3_prime_UTR_variant,,ENST00000428221,;E2F6,3_prime_UTR_variant,,ENST00000437573,;E2F6,3_prime_UTR_variant,,ENST00000455198,;E2F6,non_coding_transcript_exon_variant,,ENST00000471343,;E2F6,downstream_gene_variant,,ENST00000468775,;	928	243	138	SUCCESS
CYP27C1	339761	.	GRCh37	2	127958787	127958787	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs751539266	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	88	0	ENST00000335247.7:c.299A>C	p.Tyr100Ser	p.Y100S	ENST00000335247	NM_001001665.3	100	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS33285.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATACATG	NONE	.	.	hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF9,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000334128	.	3/8	.	.	.	.	.	.	.	.	rs751539266	3/8	PASS	ENST00000335247	Transcript	.	.	ENSG00000186684	33480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.1)	.	C27C1_HUMAN	CYP27C1	HGNC	.	.	UPI00001995F8	SNV	CYP27C1,missense_variant,p.Tyr100Ser,ENST00000409327,;CYP27C1,missense_variant,p.Tyr100Ser,ENST00000335247,;	430	88	77	SUCCESS
WDR33	55339	.	GRCh37	2	128522284	128522336	+	intron_variant	Intron	DEL	GTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA	GTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA	-	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	GTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA	GTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	131	70	258	0	ENST00000322313.4:c.626+66_626+118del		p.*209*	ENST00000322313	NM_018383.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2150.1	.	VARSCANI*|PINDEL	.	TATAGGGTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAATACAC	NONE	.	.	.	.	.	ENSP00000325377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	6/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	deletion	WDR33,frameshift_variant,p.Ile231ThrfsTer21,ENST00000409658,;WDR33,intron_variant,,ENST00000393006,;WDR33,intron_variant,,ENST00000322313,;WDR33,intron_variant,,ENST00000436787,;WDR33,downstream_gene_variant,,ENST00000408998,;	.	258	201	SUCCESS
FIGN	55137	.	GRCh37	2	164466794	164466794	+	synonymous_variant	Silent	SNP	C	C	A	rs770726947	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	47	163	0	ENST00000333129.3:c.1548G>T	p.Thr516=	p.T516=	ENST00000333129	NM_018086.2	516	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2221.2	1548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCGTCAG	NONE	byFrequency	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	.	.	ENSP00000333836	.	3/3	.	.	.	.	.	.	.	.	rs770726947	3/3	PASS	ENST00000333129	Transcript	.	.	ENSG00000182263	13285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIGN_HUMAN	FIGN	HGNC	.	.	UPI000022BD13	SNV	FIGN,synonymous_variant,p.%3D,ENST00000333129,;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	1863	163	132	SUCCESS
COBLL1	22837	.	GRCh37	2	165552127	165552127	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	388	212	629	0	ENST00000392717.2:c.2003A>G	p.Asn668Ser	p.N668S	ENST00000392717		668	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS2223.2	1889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGATTCAGT	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.11)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Asn592Ser,ENST00000375458,;COBLL1,missense_variant,p.Asn630Ser,ENST00000409184,;COBLL1,missense_variant,p.Asn630Ser,ENST00000342193,;COBLL1,missense_variant,p.Asn668Ser,ENST00000392717,;COBLL1,missense_variant,p.Asn697Ser,ENST00000194871,;COBLL1,upstream_gene_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,downstream_gene_variant,,ENST00000491126,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;COBLL1,downstream_gene_variant,,ENST00000456171,;	2105	629	600	SUCCESS
SCN3A	6328	.	GRCh37	2	166003251	166003251	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	138	401	1	ENST00000360093.3:c.1669C>A	p.Gln557Lys	p.Q557K	ENST00000360093	NM_001081677.1	557	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS33312.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTGATGAG	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037,Pfam_domain:PF11933	.	.	ENSP00000283254	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.647)	.	tolerated(0.06)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Gln557Lys,ENST00000440431,;SCN3A,missense_variant,p.Gln557Lys,ENST00000360093,;SCN3A,missense_variant,p.Gln557Lys,ENST00000283254,;SCN3A,missense_variant,p.Gln557Lys,ENST00000409101,;RN7SL455P,downstream_gene_variant,,ENST00000580629,;	2137	402	329	SUCCESS
LRP2	4036	.	GRCh37	2	170031784	170031784	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745375377	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	80	193	0	ENST00000263816.3:c.10687G>A	p.Gly3563Ser	p.G3563S	ENST00000263816	NM_004525.2	3563	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2232.1	10687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCCGTCAC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	55/79	.	.	.	.	.	.	.	.	rs745375377	55/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Gly3563Ser,ENST00000263816,;LRP2,downstream_gene_variant,,ENST00000461418,;	10973	193	184	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209217489	209217489	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs191717036	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	60	0	ENST00000264380.4:c.5827G>T	p.Gly1943Trp	p.G1943W	ENST00000264380	NM_015040.3	1943	Ggg/Tgg	0	.	A:0	.	A:0	.	T	G/W	protein_coding	YES	CCDS2382.1	5827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACGGGAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF56104,SMART_domains:SM00330,Gene3D:1bo1A02,Pfam_domain:PF01504,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353,PROSITE_profiles:PS51455	A:0.001	.	ENSP00000264380	A:0	39/42	.	.	.	.	.	.	.	.	rs191717036	39/42	PASS	ENST00000264380	Transcript	.	A:0.0002	ENSG00000115020	23785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	A:0	deleterious(0)	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,missense_variant,p.Gly1943Trp,ENST00000264380,;	5985	60	47	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209217490	209217490	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs771244880	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	60	0	ENST00000264380.4:c.5828G>C	p.Gly1943Ala	p.G1943A	ENST00000264380	NM_015040.3	1943	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS2382.1	5828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACGGGAGAA	NONE	byFrequency	.	Superfamily_domains:SSF56104,SMART_domains:SM00330,Gene3D:1bo1A02,Pfam_domain:PF01504,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353,PROSITE_profiles:PS51455	.	.	ENSP00000264380	.	39/42	.	.	.	.	.	.	.	.	rs771244880	39/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.586)	.	tolerated(0.24)	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,missense_variant,p.Gly1943Ala,ENST00000264380,;	5986	60	48	SUCCESS
RESP18	389075	.	GRCh37	2	220194423	220194423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	40	144	0	ENST00000333527.5:c.401G>T	p.Arg134Ile	p.R134I	ENST00000333527	NM_001007089.3	134	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS33382.2	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTCTGCTG	NONE	.	.	hmmpanther:PTHR17314,hmmpanther:PTHR17314:SF0,Pfam_domain:PF14948	.	.	ENSP00000330269	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000333527	Transcript	.	.	ENSG00000182698	33762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	deleterious_low_confidence(0)	.	RES18_HUMAN	RESP18	HGNC	.	.	UPI0000F576C0	SNV	RESP18,missense_variant,p.Arg10Ile,ENST00000392083,;RESP18,missense_variant,p.Arg134Ile,ENST00000333527,;RESP18,non_coding_transcript_exon_variant,,ENST00000470719,;	401	144	132	SUCCESS
ECEL1	9427	.	GRCh37	2	233344956	233344956	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	40	114	0	ENST00000304546.1:c.2235G>T	p.Leu745=	p.L745=	ENST00000304546	NM_004826.2	745	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2493.1	2235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCAGCAC	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,synonymous_variant,p.%3D,ENST00000409941,;ECEL1,synonymous_variant,p.%3D,ENST00000304546,;ECEL1,synonymous_variant,p.%3D,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	2446	114	86	SUCCESS
USP40	55230	.	GRCh37	2	234431822	234431822	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	82	271	1	ENST00000251722.6:c.2192A>G	p.Asp731Gly	p.D731G	ENST00000251722		731	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS46547.1	2228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATCATCA	NONE	.	.	hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006	.	.	ENSP00000415434	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.1)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.Asp731Gly,ENST00000251722,;USP40,missense_variant,p.Asp26Gly,ENST00000452724,;USP40,missense_variant,p.Asp731Gly,ENST00000427112,;USP40,missense_variant,p.Asp743Gly,ENST00000450966,;USP40,downstream_gene_variant,,ENST00000485943,;	2228	272	266	SUCCESS
XPO1	7514	.	GRCh37	2	61706090	61706090	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	53	227	0	ENST00000401558.2:c.3081T>G	p.Gly1027=	p.G1027=	ENST00000401558	NM_003400.3	1027	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS33205.1	3081	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TCTTCACCTGC	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08767,Gene3D:1.25.10.10,SMART_domains:SM01102,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,synonymous_variant,p.%3D,ENST00000404992,;XPO1,synonymous_variant,p.%3D,ENST00000401558,;XPO1,synonymous_variant,p.%3D,ENST00000406957,;RP11-355B11.2,intron_variant,,ENST00000603652,;RP11-355B11.2,intron_variant,,ENST00000578974,;RP11-355B11.2,intron_variant,,ENST00000603028,;RP11-355B11.2,intron_variant,,ENST00000603199,;RP11-355B11.2,upstream_gene_variant,,ENST00000605437,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,downstream_gene_variant,,ENST00000492182,;XPO1,downstream_gene_variant,,ENST00000461407,;	3809	227	176	SUCCESS
HK2	3099	.	GRCh37	2	75113635	75113635	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	129	0	ENST00000290573.2:c.2054G>T	p.Cys685Phe	p.C685F	ENST00000290573	NM_000189.4	685	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS1956.1	2054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGCTACA	NONE	.	.	hmmpanther:PTHR19443:SF4,hmmpanther:PTHR19443,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067,Prints_domain:PR00475	.	.	ENSP00000290573	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,missense_variant,p.Cys657Phe,ENST00000409174,;HK2,missense_variant,p.Cys685Phe,ENST00000290573,;	2654	129	113	SUCCESS
IAH1	285148	.	GRCh37	2	9628439	9628439	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	51	143	0	ENST00000497473.1:c.728T>G	p.Leu243Arg	p.L243R	ENST00000497473	NM_001039613.1	243	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS42651.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGGGAG	NONE	.	.	hmmpanther:PTHR14209	.	.	ENSP00000417580	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000497473	Transcript	.	.	ENSG00000134330	27696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	deleterious(0.02)	.	IAH1_HUMAN	IAH1	HGNC	C9JDY4_HUMAN,C9J5J2_HUMAN,B4DMV3_HUMAN	.	UPI00000382E7	SNV	IAH1,missense_variant,p.Leu130Arg,ENST00000470914,;IAH1,missense_variant,p.Leu243Arg,ENST00000497473,;IAH1,missense_variant,p.Leu130Arg,ENST00000482918,;IAH1,missense_variant,p.Leu223Arg,ENST00000481367,;IAH1,missense_variant,p.Leu130Arg,ENST00000545602,;IAH1,3_prime_UTR_variant,,ENST00000481688,;IAH1,downstream_gene_variant,,ENST00000496603,;IAH1,downstream_gene_variant,,ENST00000495797,;ADAM17,downstream_gene_variant,,ENST00000310823,;IAH1,non_coding_transcript_exon_variant,,ENST00000490621,;IAH1,non_coding_transcript_exon_variant,,ENST00000487850,;IAH1,downstream_gene_variant,,ENST00000495494,;IAH1,downstream_gene_variant,,ENST00000489468,;IAH1,3_prime_UTR_variant,,ENST00000351760,;IAH1,3_prime_UTR_variant,,ENST00000492223,;IAH1,non_coding_transcript_exon_variant,,ENST00000484826,;IAH1,downstream_gene_variant,,ENST00000495050,;	765	144	131	SUCCESS
ANKRD36C	400986	.	GRCh37	2	96579927	96579927	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	70	0	ENST00000456556.1:c.2480C>T	p.Ala827Val	p.A827V	ENST00000456556		827	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	.	.	2480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAGCCTGA	NONE	.	.	hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176	.	.	ENSP00000403302	.	40/67	.	.	.	.	.	.	.	.	.	40/67	PASS	ENST00000456556	Transcript	.	.	ENSG00000174501	32946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.494)	.	tolerated_low_confidence(0.39)	.	AN36C_HUMAN	ANKRD36C	HGNC	I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN	.	UPI00016620F5	SNV	ANKRD36C,missense_variant,p.Ala827Val,ENST00000456556,;ANKRD36C,splice_region_variant,,ENST00000419039,;ANKRD36C,splice_region_variant,,ENST00000295246,;ANKRD36C,splice_region_variant,,ENST00000420871,;ANKRD36C,splice_region_variant,,ENST00000534304,;	2565	70	60	SUCCESS
HEG1	57493	.	GRCh37	3	124720775	124720775	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	69	228	1	ENST00000311127.4:c.3438G>C	p.Arg1146Ser	p.R1146S	ENST00000311127	NM_020733.1	1146	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS46898.1	3438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCCTATC	NONE	.	.	hmmpanther:PTHR24037:SF2,hmmpanther:PTHR24037	.	.	ENSP00000311502	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000311127	Transcript	.	.	ENSG00000173706	29227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.8)	.	HEG1_HUMAN	HEG1	HGNC	.	.	UPI00006C069B	SNV	HEG1,missense_variant,p.Arg30Ser,ENST00000487661,;HEG1,missense_variant,p.Arg1146Ser,ENST00000311127,;	3506	229	218	SUCCESS
DBR1	51163	.	GRCh37	3	137880850	137880850	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	313	170	556	0	ENST00000260803.4:c.1516A>T	p.Thr506Ser	p.T506S	ENST00000260803	NM_016216.3	506	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33863.1	1516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTTAAGT	NONE	.	.	hmmpanther:PTHR12849	.	.	ENSP00000260803	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000260803	Transcript	.	.	ENSG00000138231	15594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.55)	.	DBR1_HUMAN	DBR1	HGNC	F5GWV2_HUMAN	.	UPI000006DFC5	SNV	DBR1,missense_variant,p.Thr506Ser,ENST00000260803,;DBR1,missense_variant,p.Thr272Ser,ENST00000505015,;DBR1,downstream_gene_variant,,ENST00000460271,;DBR1,downstream_gene_variant,,ENST00000477557,;	1670	556	484	SUCCESS
FNDC3B	64778	.	GRCh37	3	171965470	171965470	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	92	269	0	ENST00000336824.4:c.412C>T	p.His138Tyr	p.H138Y	ENST00000336824	NM_001135095.1	138	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS3217.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACACACG	NONE	.	.	hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54	.	.	ENSP00000338523	.	5/26	.	.	.	.	.	.	.	.	COSM582589	5/26	PASS	ENST00000336824	Transcript	.	.	ENSG00000075420	24670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.885)	.	tolerated(1)	1	FND3B_HUMAN	FNDC3B	HGNC	.	.	UPI00001AE8B2	SNV	FNDC3B,missense_variant,p.His111Tyr,ENST00000443501,;FNDC3B,missense_variant,p.His138Tyr,ENST00000416957,;FNDC3B,missense_variant,p.His138Tyr,ENST00000415807,;FNDC3B,missense_variant,p.His138Tyr,ENST00000336824,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;	511	269	240	SUCCESS
MLH1	4292	.	GRCh37	3	37053518	37053518	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	45	184	0	ENST00000231790.2:c.605C>G	p.Ala202Gly	p.A202G	ENST00000231790	NM_000249.3	202	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS2663.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCTGATG	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF12,TIGRFAM_domain:TIGR00585,Gene3D:3.30.565.10,Superfamily_domains:SSF55874,Superfamily_domains:SSF54211	.	.	ENSP00000231790	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000231790	Transcript	.	.	ENSG00000076242	7127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.13)	.	MLH1_HUMAN	MLH1	HGNC	Q5GJ64_HUMAN,F2Z298_HUMAN,E7EUC9_HUMAN,C4PFY8_HUMAN,B7Z821_HUMAN,A8W2I7_HUMAN	.	UPI0000000C7E	SNV	MLH1,missense_variant,p.Ala202Gly,ENST00000231790,;MLH1,missense_variant,p.Ala194Gly,ENST00000456676,;MLH1,missense_variant,p.Ala104Gly,ENST00000435176,;MLH1,5_prime_UTR_variant,,ENST00000455445,;MLH1,5_prime_UTR_variant,,ENST00000441265,;MLH1,5_prime_UTR_variant,,ENST00000539477,;MLH1,5_prime_UTR_variant,,ENST00000458205,;MLH1,5_prime_UTR_variant,,ENST00000536378,;MLH1,downstream_gene_variant,,ENST00000429117,;MLH1,downstream_gene_variant,,ENST00000466900,;MLH1,downstream_gene_variant,,ENST00000492474,;MLH1,downstream_gene_variant,,ENST00000485889,;MLH1,3_prime_UTR_variant,,ENST00000432299,;MLH1,3_prime_UTR_variant,,ENST00000457004,;MLH1,3_prime_UTR_variant,,ENST00000442249,;MLH1,upstream_gene_variant,,ENST00000413212,;MLH1,upstream_gene_variant,,ENST00000458009,;MLH1,upstream_gene_variant,,ENST00000447829,;MLH1,downstream_gene_variant,,ENST00000454028,;RPL29P11,downstream_gene_variant,,ENST00000600290,;RPL29P11,downstream_gene_variant,,ENST00000494408,;	821	184	146	SUCCESS
CENPE	1062	.	GRCh37	4	104053878	104053878	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	82	333	0	ENST00000265148.3:c.6896T>A	p.Val2299Glu	p.V2299E	ENST00000265148	NM_001813.2	2299	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS34042.1	6896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCACTTGA	NONE	.	.	hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	42/49	.	.	.	.	.	.	.	.	.	42/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.559)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Val2178Glu,ENST00000380026,;CENPE,missense_variant,p.Val2299Glu,ENST00000265148,;	6986	333	217	SUCCESS
NR3C2	4306	.	GRCh37	4	149073680	149073680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	69	286	0	ENST00000344721.4:c.2450G>T	p.Arg817Ile	p.R817I	ENST00000344721		817	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS3772.1	2450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATCTCCAG	NONE	.	.	hmmpanther:PTHR24084:SF22,hmmpanther:PTHR24084,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000350815	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000358102	Transcript	1	.	ENSG00000151623	7979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	deleterious(0.01)	.	.	NR3C2	HGNC	Q4W5E8_HUMAN,B0ZBF6_HUMAN	.	UPI000013DC6D	SNV	NR3C2,missense_variant,p.Arg817Ile,ENST00000358102,;NR3C2,missense_variant,p.Arg817Ile,ENST00000344721,;NR3C2,missense_variant,p.Arg821Ile,ENST00000355292,;NR3C2,missense_variant,p.Arg700Ile,ENST00000512865,;NR3C2,missense_variant,p.Arg821Ile,ENST00000511528,;RP11-76G10.1,intron_variant,,ENST00000514843,;NR3C2,non_coding_transcript_exon_variant,,ENST00000503313,;NR3C2,non_coding_transcript_exon_variant,,ENST00000503174,;NR3C2,intron_variant,,ENST00000342437,;	2813	286	210	SUCCESS
TMPRSS11B	132724	.	GRCh37	4	69097023	69097023	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	70	119	0	ENST00000332644.5:c.584del	p.Ala195AspfsTer20	p.A195Dfs*20	ENST00000332644	NM_182502.3	195	gCa/ga	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS3521.1	584	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCATGCCCCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000330475	.	7/10	.	.	.	.	.	.	.	.	COSM221696	7/10	PASS	ENST00000332644	Transcript	.	.	ENSG00000185873	25398	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	TM11B_HUMAN	TMPRSS11B	HGNC	.	.	UPI000013E249	deletion	TMPRSS11B,frameshift_variant,p.Ala195AspfsTer20,ENST00000332644,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;RP11-646E20.6,upstream_gene_variant,,ENST00000514295,;	746	119	238	SUCCESS
AFF1	4299	.	GRCh37	4	88035706	88035706	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763614153	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	68	0	ENST00000307808.6:c.1700C>A	p.Ser567Tyr	p.S567Y	ENST00000307808	NM_005935.2	567	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS54775.1	1721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF14,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000378578	.	12/21	.	.	.	.	.	.	.	.	rs763614153	12/21	PASS	ENST00000395146	Transcript	1	.	ENSG00000172493	7135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	AFF1_HUMAN	AFF1	HGNC	Q712L1_HUMAN,F5GXF9_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN	.	UPI000013EC52	SNV	AFF1,missense_variant,p.Ser567Tyr,ENST00000307808,;AFF1,missense_variant,p.Ser574Tyr,ENST00000395146,;AFF1,missense_variant,p.Ser205Tyr,ENST00000544085,;AFF1,upstream_gene_variant,,ENST00000503369,;	1996	68	57	SUCCESS
GRID2	2895	.	GRCh37	4	94006348	94006348	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	180	0	ENST00000282020.4:c.447T>G	p.Pro149=	p.P149=	ENST00000282020	NM_001510.2	149	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3637.1	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGTCTA	NONE	.	.	hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000282020	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000282020	Transcript	1	.	ENSG00000152208	4576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRID2_HUMAN	GRID2	HGNC	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN	.	UPI00001AEA78	SNV	GRID2,synonymous_variant,p.%3D,ENST00000282020,;GRID2,intron_variant,,ENST00000510992,;GRID2,non_coding_transcript_exon_variant,,ENST00000505687,;GRID2,non_coding_transcript_exon_variant,,ENST00000515744,;GRID2,synonymous_variant,p.%3D,ENST00000502699,;	705	180	132	SUCCESS
ADAMTS19	171019	.	GRCh37	5	129070694	129070694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	207	392	0	ENST00000274487.4:c.3364C>A	p.His1122Asn	p.H1122N	ENST00000274487	NM_133638.3	1122	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS4146.1	3364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACATGGA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000274487	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.His1122Asn,ENST00000274487,;CTC-575N7.1,non_coding_transcript_exon_variant,,ENST00000503616,;ADAMTS19,non_coding_transcript_exon_variant,,ENST00000509467,;	3509	392	453	SUCCESS
LEAP2	116842	.	GRCh37	5	132209684	132209685	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	122	52	124	0	ENST00000296877.2:c.102dup	p.Pro35AlafsTer23	p.P35Afs*23	ENST00000296877	NM_052971.2	34	agg/aGgg	0	.	.	.	.	.	G	R/RX	protein_coding	YES	CCDS4163.1	100-101	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGAAGGCCA	NONE	.	.	hmmpanther:PTHR21007,Pfam_domain:PF07359	.	.	ENSP00000296877	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000296877	Transcript	.	.	ENSG00000164406	29571	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LEAP2_HUMAN	LEAP2	HGNC	.	.	UPI000012E39C	insertion	LEAP2,frameshift_variant,p.Pro35AlafsTer23,ENST00000296877,;AFF4,downstream_gene_variant,,ENST00000265343,;LEAP2,non_coding_transcript_exon_variant,,ENST00000485457,;LEAP2,non_coding_transcript_exon_variant,,ENST00000483190,;	1473-1474	124	174	SUCCESS
TCOF1	6949	.	GRCh37	5	149737291	149737291	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs761394443	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	28	0	ENST00000377797.3:c.-19C>G		p.*7*	ENST00000377797	NM_001135243.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54936.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCCGGCC	NONE	byFrequency	19	.	.	.	ENSP00000421655	.	.	.	.	.	.	.	.	.	.	rs761394443	.	PASS	ENST00000504761	Transcript	1	.	ENSG00000070814	11654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCOF_HUMAN	TCOF1	HGNC	Q9UFD4_HUMAN	.	UPI0000EE3736	SNV	TCOF1,5_prime_UTR_variant,,ENST00000445265,;TCOF1,5_prime_UTR_variant,,ENST00000323668,;TCOF1,5_prime_UTR_variant,,ENST00000427724,;TCOF1,5_prime_UTR_variant,,ENST00000394269,;TCOF1,5_prime_UTR_variant,,ENST00000439160,;TCOF1,5_prime_UTR_variant,,ENST00000377797,;TCOF1,5_prime_UTR_variant,,ENST00000451292,;TCOF1,upstream_gene_variant,,ENST00000513346,;TCOF1,upstream_gene_variant,,ENST00000504761,;TCOF1,upstream_gene_variant,,ENST00000515516,;	.	28	46	SUCCESS
GABRG2	2566	.	GRCh37	5	161576259	161576259	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	860	205	757	0	ENST00000361925.4:c.1068del	p.Leu356PhefsTer36	p.L356Ffs*36	ENST00000361925		356	ttG/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS47333.1	1188	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCTTGCATTA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00253,Superfamily_domains:SSF90112,Pfam_domain:PF02932,Gene3D:1.20.58.390,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	deletion	GABRG2,frameshift_variant,p.Leu261PhefsTer36,ENST00000393933,;GABRG2,frameshift_variant,p.Leu356PhefsTer36,ENST00000361925,;GABRG2,frameshift_variant,p.Leu356PhefsTer44,ENST00000356592,;GABRG2,frameshift_variant,p.Leu396PhefsTer44,ENST00000414552,;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	1413	757	1065	SUCCESS
GABRG2	2566	.	GRCh37	5	161580269	161580269	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	471	180	551	0	ENST00000361925.4:c.1299G>A	p.Arg433=	p.R433=	ENST00000361925		433	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47333.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGATACA	NONE	.	.	Superfamily_domains:SSF90112,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,synonymous_variant,p.%3D,ENST00000393933,;GABRG2,synonymous_variant,p.%3D,ENST00000361925,;GABRG2,synonymous_variant,p.%3D,ENST00000356592,;GABRG2,synonymous_variant,p.%3D,ENST00000414552,;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	1668	551	651	SUCCESS
ZFR	51663	.	GRCh37	5	32444759	32444759	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	30	186	0	ENST00000265069.8:c.6T>G	p.Ile2Met	p.I2M	ENST00000265069	NM_016107.3	2	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS34139.1	6	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGAATCAT	NONE	.	.	hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87	.	.	ENSP00000265069	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000265069	Transcript	1	.	ENSG00000056097	17277	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.703)	.	deleterious_low_confidence(0)	.	ZFR_HUMAN	ZFR	HGNC	B3KP82_HUMAN	.	UPI00001BBB38	SNV	ZFR,missense_variant,p.Ile2Met,ENST00000265069,;ZFR,non_coding_transcript_exon_variant,,ENST00000505366,;ZFR,upstream_gene_variant,,ENST00000505204,;	109	186	268	SUCCESS
CCNB1	891	.	GRCh37	5	68467214	68467214	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	82	219	0	ENST00000256442.5:c.481G>A	p.Gly161Arg	p.G161R	ENST00000256442	NM_031966.3	161	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS3997.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGGAGCT	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF193,PIRSF_domain:PIRSF001771	.	.	ENSP00000256442	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000256442	Transcript	.	.	ENSG00000134057	1579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.37)	.	CCNB1_HUMAN	CCNB1	HGNC	Q9BPX9_HUMAN	.	UPI00001275A9	SNV	CCNB1,missense_variant,p.Gly161Arg,ENST00000256442,;CCNB1,missense_variant,p.Gly161Arg,ENST00000506572,;CCNB1,missense_variant,p.Gly161Arg,ENST00000508407,;CCNB1,missense_variant,p.Gly161Arg,ENST00000505500,;CCNB1,upstream_gene_variant,,ENST00000507798,;snoU13,downstream_gene_variant,,ENST00000459230,;CCNB1,3_prime_UTR_variant,,ENST00000503507,;	734	219	258	SUCCESS
TCF21	6943	.	GRCh37	6	134212868	134212868	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	44	0	ENST00000237316.3:c.468G>A	p.Val156=	p.V156=	ENST00000237316	NM_198392.2	156	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5167.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGGCCGG	NONE	.	.	hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF51	.	.	ENSP00000356857	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367882	Transcript	.	.	ENSG00000118526	11632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF21_HUMAN	TCF21	HGNC	.	.	UPI0000001290	SNV	TCF21,synonymous_variant,p.%3D,ENST00000237316,;TCF21,synonymous_variant,p.%3D,ENST00000367882,;RP3-323P13.2,non_coding_transcript_exon_variant,,ENST00000607573,;RP3-323P13.2,upstream_gene_variant,,ENST00000607641,;RP3-323P13.2,upstream_gene_variant,,ENST00000607033,;RP3-323P13.2,upstream_gene_variant,,ENST00000606544,;	728	44	48	SUCCESS
UTRN	7402	.	GRCh37	6	145093056	145093056	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs939877779	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	54	0	ENST00000367545.3:c.8509A>G	p.Thr2837Ala	p.T2837A	ENST00000367545	NM_007124.2	2837	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS34547.1	8509	RADIA|VARSCANS	.	CACAGACCACC	NONE	.	.	PROSITE_profiles:PS50020,hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,PROSITE_patterns:PS01159,Gene3D:2.20.70.10,Pfam_domain:PF00397,SMART_domains:SM00456,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF51045	.	.	ENSP00000356515	.	58/74	.	.	.	.	.	.	.	.	.	58/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,missense_variant,p.Thr392Ala,ENST00000367526,;UTRN,missense_variant,p.Thr2837Ala,ENST00000367545,;	8509	54	39	SUCCESS
GRM1	2911	.	GRCh37	6	146720308	146720308	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	67	197	0	ENST00000282753.1:c.2133A>T	p.Ser711=	p.S711=	ENST00000282753	NM_001278067.1	711	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5209.1	2133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAATTCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000354896	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,synonymous_variant,p.%3D,ENST00000282753,;GRM1,synonymous_variant,p.%3D,ENST00000392299,;GRM1,synonymous_variant,p.%3D,ENST00000361719,;GRM1,synonymous_variant,p.%3D,ENST00000507907,;GRM1,synonymous_variant,p.%3D,ENST00000355289,;GRM1,synonymous_variant,p.%3D,ENST00000492807,;	2603	197	185	SUCCESS
OPRM1	4988	.	GRCh37	6	154412235	154412235	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	319	172	561	1	ENST00000330432.7:c.792C>A	p.Val264=	p.V264=	ENST00000330432	NM_000914.3	264	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47503.1	1071	RADIA|SOMATICSNIPER|VARSCANS	.	AGTGTCCGCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000394624	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,synonymous_variant,p.%3D,ENST00000337049,;OPRM1,synonymous_variant,p.%3D,ENST00000428397,;OPRM1,synonymous_variant,p.%3D,ENST00000360422,;OPRM1,synonymous_variant,p.%3D,ENST00000452687,;OPRM1,synonymous_variant,p.%3D,ENST00000330432,;OPRM1,synonymous_variant,p.%3D,ENST00000435918,;OPRM1,synonymous_variant,p.%3D,ENST00000518759,;OPRM1,synonymous_variant,p.%3D,ENST00000414028,;OPRM1,synonymous_variant,p.%3D,ENST00000419506,;OPRM1,synonymous_variant,p.%3D,ENST00000434900,;OPRM1,synonymous_variant,p.%3D,ENST00000524163,;OPRM1,synonymous_variant,p.%3D,ENST00000522236,;OPRM1,synonymous_variant,p.%3D,ENST00000520708,;OPRM1,synonymous_variant,p.%3D,ENST00000522555,;OPRM1,synonymous_variant,p.%3D,ENST00000229768,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Pro147Thr,ENST00000524150,;OPRM1,synonymous_variant,p.%3D,ENST00000522739,;OPRM1,synonymous_variant,p.%3D,ENST00000519083,;	1589	563	491	SUCCESS
SYNJ2	8871	.	GRCh37	6	158438296	158438296	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771187696	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	30	0	ENST00000355585.4:c.188G>A	p.Cys63Tyr	p.C63Y	ENST00000355585	NM_001178088.1	63	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS5254.1	188	RADIA|VARSCANS	.	CGGCTGCCTGG	NONE	byFrequency	.	Pfam_domain:PF02383	.	.	ENSP00000347792	.	2/27	.	.	.	.	.	.	.	.	rs771187696	2/27	PASS	ENST00000355585	Transcript	.	.	ENSG00000078269	11504	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SYNJ2_HUMAN	SYNJ2	HGNC	B4DLC4_HUMAN	.	UPI000006E2F8	SNV	SYNJ2,missense_variant,p.Cys63Tyr,ENST00000367121,;SYNJ2,missense_variant,p.Cys63Tyr,ENST00000355585,;SYNJ2,missense_variant,p.Cys38Tyr,ENST00000367113,;SYNJ2,missense_variant,p.Cys63Tyr,ENST00000367122,;SYNJ2,upstream_gene_variant,,ENST00000449859,;SYNJ2,upstream_gene_variant,,ENST00000449320,;	263	30	28	SUCCESS
MYLIP	29116	.	GRCh37	6	16145168	16145168	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752855647	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	50	181	0	ENST00000356840.3:c.868C>A	p.Arg290Ser	p.R290S	ENST00000356840	NM_013262.3	290	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4536.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCCGTGAC	NONE	.	.	Superfamily_domains:SSF50729,hmmpanther:PTHR23280	.	.	ENSP00000349298	.	6/7	.	.	.	.	.	.	.	.	rs752855647	6/7	PASS	ENST00000356840	Transcript	.	.	ENSG00000007944	21155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	MYLIP_HUMAN	MYLIP	HGNC	Q5TIA5_HUMAN	.	UPI000006CDE0	SNV	MYLIP,missense_variant,p.Arg109Ser,ENST00000349606,;MYLIP,missense_variant,p.Arg290Ser,ENST00000356840,;U3,downstream_gene_variant,,ENST00000515984,;MIR4639,downstream_gene_variant,,ENST00000584938,;	1066	181	162	SUCCESS
SCAND3	0	.	GRCh37	6	28543241	28543241	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	179	0	ENST00000452236.2:c.1241C>G	p.Pro414Arg	p.P414R	ENST00000452236	NM_052923.1	414	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS34355.1	1241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTAGGCCTT	NONE	.	.	PROSITE_profiles:PS50994,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF90,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000395259	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000452236	Transcript	.	.	ENSG00000232040	13851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.331)	.	deleterious_low_confidence(0)	.	SCND3_HUMAN	SCAND3	HGNC	.	.	UPI00001618B7	SNV	SCAND3,missense_variant,p.Pro414Arg,ENST00000452236,;SCAND3,downstream_gene_variant,,ENST00000530247,;	1859	179	84	SUCCESS
TCF19	6941	.	GRCh37	6	31129627	31129627	+	synonymous_variant	Silent	SNP	G	G	T	rs758341302	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	37	0	ENST00000376255.4:c.642G>T	p.Thr214=	p.T214=	ENST00000376255	NM_001077511.1	214	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43446.1	642	RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGCCTTC	NONE	byFrequency	.	hmmpanther:PTHR15464:SF1,hmmpanther:PTHR15464	.	.	ENSP00000365433	.	3/4	.	.	.	.	.	.	.	.	rs758341302	3/4	PASS	ENST00000376257	Transcript	.	.	ENSG00000137310	11629	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCF19_HUMAN	TCF19	HGNC	.	.	UPI0000071646	SNV	TCF19,synonymous_variant,p.%3D,ENST00000542218,;TCF19,synonymous_variant,p.%3D,ENST00000376257,;TCF19,synonymous_variant,p.%3D,ENST00000376255,;POU5F1,downstream_gene_variant,,ENST00000441888,;CCHCR1,upstream_gene_variant,,ENST00000502557,;POU5F1,downstream_gene_variant,,ENST00000259915,;CCHCR1,upstream_gene_variant,,ENST00000448162,;CCHCR1,upstream_gene_variant,,ENST00000508683,;POU5F1,downstream_gene_variant,,ENST00000513407,;POU5F1,downstream_gene_variant,,ENST00000471529,;CCHCR1,upstream_gene_variant,,ENST00000426967,;CCHCR1,upstream_gene_variant,,ENST00000455279,;CCHCR1,upstream_gene_variant,,ENST00000507226,;CCHCR1,upstream_gene_variant,,ENST00000451521,;CCHCR1,upstream_gene_variant,,ENST00000507829,;POU5F1,downstream_gene_variant,,ENST00000512818,;CCHCR1,upstream_gene_variant,,ENST00000396263,;CCHCR1,upstream_gene_variant,,ENST00000507751,;CCHCR1,upstream_gene_variant,,ENST00000506831,;CCHCR1,upstream_gene_variant,,ENST00000396268,;CCHCR1,upstream_gene_variant,,ENST00000513222,;CCHCR1,upstream_gene_variant,,ENST00000448141,;CCHCR1,upstream_gene_variant,,ENST00000507892,;CCHCR1,upstream_gene_variant,,ENST00000503934,;CCHCR1,upstream_gene_variant,,ENST00000428174,;CCHCR1,upstream_gene_variant,,ENST00000503420,;POU5F1,downstream_gene_variant,,ENST00000606567,;CCHCR1,upstream_gene_variant,,ENST00000376266,;TCF19,non_coding_transcript_exon_variant,,ENST00000496421,;CCHCR1,upstream_gene_variant,,ENST00000480060,;CCHCR1,upstream_gene_variant,,ENST00000505392,;POU5F1,downstream_gene_variant,,ENST00000461401,;CCHCR1,upstream_gene_variant,,ENST00000508852,;CCHCR1,upstream_gene_variant,,ENST00000509552,;CCHCR1,upstream_gene_variant,,ENST00000507459,;CCHCR1,upstream_gene_variant,,ENST00000475684,;CCHCR1,upstream_gene_variant,,ENST00000488920,;CCHCR1,upstream_gene_variant,,ENST00000512418,;	1396	37	37	SUCCESS
NELFE	7936	.	GRCh37	6	31922613	31922613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	28	0	ENST00000375429.3:c.461A>G	p.Glu154Gly	p.E154G	ENST00000375429	NM_002904.5	154	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4730.1	461	RADIA|MUTECT|VARSCANS	.	GGCCCTCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17250:SF0,hmmpanther:PTHR17250	.	.	ENSP00000364578	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000375429	Transcript	.	.	ENSG00000204356	13974	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.18)	.	tolerated_low_confidence(0.09)	.	NELFE_HUMAN	NELFE	HGNC	Q9BQJ6_HUMAN,A2ABK4_HUMAN,A2ABK2_HUMAN	.	UPI000000127D	SNV	NELFE,missense_variant,p.Glu149Gly,ENST00000436289,;NELFE,missense_variant,p.Glu161Gly,ENST00000375425,;NELFE,missense_variant,p.Glu154Gly,ENST00000375429,;NELFE,missense_variant,p.Glu154Gly,ENST00000426722,;NELFE,missense_variant,p.Glu149Gly,ENST00000441998,;NELFE,missense_variant,p.Glu154Gly,ENST00000454913,;NELFE,intron_variant,,ENST00000444811,;CFB,downstream_gene_variant,,ENST00000483004,;CFB,downstream_gene_variant,,ENST00000456570,;CFB,downstream_gene_variant,,ENST00000477310,;SKIV2L,upstream_gene_variant,,ENST00000544581,;CFB,downstream_gene_variant,,ENST00000498317,;CFB,downstream_gene_variant,,ENST00000556679,;SKIV2L,upstream_gene_variant,,ENST00000375394,;CFB,downstream_gene_variant,,ENST00000425368,;MIR1236,downstream_gene_variant,,ENST00000408340,;SKIV2L,upstream_gene_variant,,ENST00000488648,;NELFE,non_coding_transcript_exon_variant,,ENST00000488426,;NELFE,non_coding_transcript_exon_variant,,ENST00000492185,;NELFE,non_coding_transcript_exon_variant,,ENST00000481121,;NELFE,intron_variant,,ENST00000492539,;SKIV2L,upstream_gene_variant,,ENST00000492900,;CFB,downstream_gene_variant,,ENST00000482312,;CFB,downstream_gene_variant,,ENST00000452035,;SKIV2L,upstream_gene_variant,,ENST00000474839,;SKIV2L,upstream_gene_variant,,ENST00000465703,;NELFE,downstream_gene_variant,,ENST00000494956,;CFB,downstream_gene_variant,,ENST00000467360,;NELFE,downstream_gene_variant,,ENST00000491139,;SKIV2L,upstream_gene_variant,,ENST00000461073,;	688	28	16	SUCCESS
DXO	1797	.	GRCh37	6	31938796	31938796	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1035710983	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	78	0	ENST00000337523.5:c.485T>C	p.Leu162Pro	p.L162P	ENST00000337523	NM_005510.3	162	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4732.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCAGGTAT	NONE	.	.	hmmpanther:PTHR12395,hmmpanther:PTHR12395:SF9	.	.	ENSP00000364498	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000375349	Transcript	.	.	ENSG00000204348	2992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	DXO_HUMAN	DXO	HGNC	.	.	UPI00000710F6	SNV	DXO,missense_variant,p.Leu162Pro,ENST00000375356,;DXO,missense_variant,p.Leu162Pro,ENST00000375349,;DXO,missense_variant,p.Leu162Pro,ENST00000337523,;DXO,upstream_gene_variant,,ENST00000495340,;SKIV2L,downstream_gene_variant,,ENST00000544581,;SKIV2L,downstream_gene_variant,,ENST00000491994,;STK19,upstream_gene_variant,,ENST00000375331,;SKIV2L,downstream_gene_variant,,ENST00000375394,;STK19,upstream_gene_variant,,ENST00000460018,;STK19,upstream_gene_variant,,ENST00000375333,;DXO,non_coding_transcript_exon_variant,,ENST00000474587,;DXO,non_coding_transcript_exon_variant,,ENST00000487914,;DXO,non_coding_transcript_exon_variant,,ENST00000478221,;SKIV2L,downstream_gene_variant,,ENST00000470453,;STK19,upstream_gene_variant,,ENST00000463823,;SKIV2L,downstream_gene_variant,,ENST00000461915,;SKIV2L,downstream_gene_variant,,ENST00000471818,;STK19,upstream_gene_variant,,ENST00000466336,;DXO,missense_variant,p.Leu162Pro,ENST00000480240,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;DXO,non_coding_transcript_exon_variant,,ENST00000492946,;DXO,non_coding_transcript_exon_variant,,ENST00000498357,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;DXO,non_coding_transcript_exon_variant,,ENST00000491327,;DXO,non_coding_transcript_exon_variant,,ENST00000460058,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;STK19,upstream_gene_variant,,ENST00000479644,;STK19,upstream_gene_variant,,ENST00000483801,;SKIV2L,downstream_gene_variant,,ENST00000474839,;STK19,upstream_gene_variant,,ENST00000466132,;SKIV2L,downstream_gene_variant,,ENST00000465703,;STK19,upstream_gene_variant,,ENST00000492583,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,downstream_gene_variant,,ENST00000485349,;	897	78	73	SUCCESS
SRSF3	6428	.	GRCh37	6	36564637	36564637	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	45	166	0	ENST00000373715.6:c.98A>G	p.Tyr33Cys	p.Y33C	ENST00000373715	NM_003017.4	33	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4823.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTATGGAC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR10548,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000362820	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000373715	Transcript	.	.	ENSG00000112081	10785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.01)	.	SRSF3_HUMAN	SRSF3	HGNC	B2R6F3_HUMAN	.	UPI0000004131	SNV	SRSF3,missense_variant,p.Tyr33Cys,ENST00000339436,;SRSF3,missense_variant,p.Tyr33Cys,ENST00000373715,;SRSF3,missense_variant,p.Tyr33Cys,ENST00000477442,;	214	166	143	SUCCESS
KHDC3L	154288	.	GRCh37	6	74072866	74072866	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	99	0	ENST00000370367.3:c.218T>A	p.Leu73Ter	p.L73*	ENST00000370367	NM_001017361.2	73	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS34484.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTGATTC	NONE	.	.	Superfamily_domains:SSF54791,Gene3D:3.30.1370.10,hmmpanther:PTHR19447:SF5,hmmpanther:PTHR19447	.	.	ENSP00000359392	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370367	Transcript	.	.	ENSG00000203908	33699	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KHD3L_HUMAN	KHDC3L	HGNC	.	.	UPI00001D8131	SNV	KHDC3L,stop_gained,p.Leu73Ter,ENST00000370367,;	271	99	89	SUCCESS
KCP	375616	.	GRCh37	7	128517213	128517213	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	33	0	ENST00000476647.2:n.4814G>A		p.*1605*	ENST00000476647				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACCAGGC	NONE	.	.	.	.	.	.	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,intron_variant,,ENST00000297801,;KCP,intron_variant,,ENST00000460528,;KCP,intron_variant,,ENST00000492679,;	4814	33	35	SUCCESS
FAM180A	389558	.	GRCh37	7	135421867	135421867	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	34	106	0	ENST00000338588.3:c.157G>A	p.Glu53Lys	p.E53K	ENST00000338588	NM_205855.3	53	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5841.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCCTCCA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15173	.	.	ENSP00000342336	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000338588	Transcript	.	.	ENSG00000189320	33773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.547)	.	deleterious(0.01)	.	F180A_HUMAN	FAM180A	HGNC	.	.	UPI0000035A01	SNV	FAM180A,missense_variant,p.Glu53Lys,ENST00000338588,;FAM180A,missense_variant,p.Glu53Lys,ENST00000415751,;FAM180A,non_coding_transcript_exon_variant,,ENST00000435869,;FAM180A,missense_variant,p.Glu53Lys,ENST00000444083,;	423	106	67	SUCCESS
KMT2C	58508	.	GRCh37	7	151962208	151962208	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	451	33	455	0	ENST00000262189.6:c.1099C>G	p.His367Asp	p.H367D	ENST00000262189	NM_170606.2	367	Cat/Gat	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS5931.1	1099	MUTECT|MUSE	.	TCCATGATAGT	BUFFER|p.H367Y|c.1099C>T|3,BUFFER|p.H367Y|c.1099C>T|3,BUFFER|p.Y366H|c.1096T>C|4,BUFFER|p.Y366H|c.1096T>C|4	.	.	PROSITE_profiles:PS50089,PROSITE_profiles:PS50016,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000262189	.	8/59	.	.	.	.	.	.	.	.	COSM3675546,COSM452742,COSM3675545,COSM452741	8/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1,1	.	.	probably_damaging(0.997)	.	.	1,1,1,1	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.His367Asp,ENST00000355193,;KMT2C,missense_variant,p.His367Asp,ENST00000262189,;KMT2C,missense_variant,p.His367Asp,ENST00000558084,;	1318	455	484	SUCCESS
PTPRN2	5799	.	GRCh37	7	157369373	157369373	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	41	137	0	ENST00000389418.4:c.2715G>T	p.Gln905His	p.Q905H	ENST00000389418	NM_002847.3	905	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5947.1	2715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACTGCGT	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000374069	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000389418	Transcript	.	.	ENSG00000155093	9677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,missense_variant,p.Gln867His,ENST00000409483,;PTPRN2,missense_variant,p.Gln888His,ENST00000389416,;PTPRN2,missense_variant,p.Gln928His,ENST00000404321,;PTPRN2,missense_variant,p.Gln905His,ENST00000389418,;PTPRN2,missense_variant,p.Gln876His,ENST00000389413,;MIR153-2,upstream_gene_variant,,ENST00000385225,;	2725	137	127	SUCCESS
GPNMB	10457	.	GRCh37	7	23296941	23296941	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	17	0	ENST00000381990.2:c.541+257T>A		p.*181*	ENST00000381990	NM_002510.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34610.1	.	RADIA|MUTECT|MUSE	.	CCACTTAATTT	NONE	.	.	.	.	.	ENSP00000371420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381990	Transcript	.	.	ENSG00000136235	4462	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPNMB_HUMAN	GPNMB	HGNC	.	.	UPI000007158E	SNV	GPNMB,3_prime_UTR_variant,,ENST00000409458,;GPNMB,intron_variant,,ENST00000381990,;GPNMB,intron_variant,,ENST00000453162,;GPNMB,intron_variant,,ENST00000539136,;GPNMB,intron_variant,,ENST00000258733,;GPNMB,intron_variant,,ENST00000465673,;GPNMB,downstream_gene_variant,,ENST00000492858,;GPNMB,downstream_gene_variant,,ENST00000487890,;GPNMB,downstream_gene_variant,,ENST00000459927,;GPNMB,downstream_gene_variant,,ENST00000492512,;	.	17	9	SUCCESS
TAX1BP1	8887	.	GRCh37	7	27868442	27868442	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	54	0	ENST00000396319.2:c.2364T>C	p.Phe788=	p.F788=	ENST00000396319	NM_006024.6	788	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS5415.1	2364	RADIA|VARSCANS	.	AATTTTGACTA	NONE	.	.	hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF4	.	.	ENSP00000379612	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000396319	Transcript	.	.	ENSG00000106052	11575	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TAXB1_HUMAN	TAX1BP1	HGNC	C9JBZ7_HUMAN,C9J7J4_HUMAN,A4D196_HUMAN	.	UPI00000723AD	SNV	TAX1BP1,synonymous_variant,p.%3D,ENST00000457186,;TAX1BP1,synonymous_variant,p.%3D,ENST00000396319,;TAX1BP1,synonymous_variant,p.%3D,ENST00000433216,;TAX1BP1,synonymous_variant,p.%3D,ENST00000265393,;TAX1BP1,synonymous_variant,p.%3D,ENST00000543117,;TAX1BP1,synonymous_variant,p.%3D,ENST00000409980,;TAX1BP1,intron_variant,,ENST00000488564,;JAZF1,downstream_gene_variant,,ENST00000430432,;JAZF1,downstream_gene_variant,,ENST00000283928,;JAZF1,downstream_gene_variant,,ENST00000447620,;JAZF1,downstream_gene_variant,,ENST00000427814,;TAX1BP1,intron_variant,,ENST00000460059,;JAZF1,downstream_gene_variant,,ENST00000466516,;TAX1BP1,3_prime_UTR_variant,,ENST00000416801,;	2452	54	35	SUCCESS
KIAA1324L	0	.	GRCh37	7	86569424	86569424	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	62	226	1	ENST00000450689.2:c.749T>C	p.Leu250Pro	p.L250P	ENST00000450689	NM_001142749.2	250	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS47632.1	749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCAGCATT	NONE	.	.	hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	.	.	ENSP00000413445	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,missense_variant,p.Leu250Pro,ENST00000444627,;KIAA1324L,missense_variant,p.Leu211Pro,ENST00000423294,;KIAA1324L,missense_variant,p.Leu250Pro,ENST00000450689,;KIAA1324L,missense_variant,p.Leu10Pro,ENST00000297222,;KIAA1324L,missense_variant,p.Leu83Pro,ENST00000416314,;KIAA1324L,downstream_gene_variant,,ENST00000425689,;KIAA1324L,downstream_gene_variant,,ENST00000398276,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;	935	227	198	SUCCESS
GSDMD	79792	.	GRCh37	8	144644902	144644902	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	73	83	0	ENST00000262580.4:c.1283T>C	p.Leu428Pro	p.L428P	ENST00000262580	NM_024736.6	428	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS34956.1	1283	RADIA|MUTECT|MUSE	.	GCTCCTGGGGA	NONE	.	.	Pfam_domain:PF04598,hmmpanther:PTHR16399:SF15,hmmpanther:PTHR16399	.	.	ENSP00000433209	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000526406	Transcript	.	.	ENSG00000104518	25697	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.376)	.	deleterious(0.04)	.	GSDMD_HUMAN	GSDMD	HGNC	E9PRF1_HUMAN,E9PQR9_HUMAN,E9PQ48_HUMAN,E9PNZ0_HUMAN,B3KTX1_HUMAN	.	UPI00001291ED	SNV	GSDMD,missense_variant,p.Leu428Pro,ENST00000262580,;GSDMD,missense_variant,p.Leu428Pro,ENST00000526406,;GSDMD,missense_variant,p.Leu476Pro,ENST00000533063,;GSDMD,synonymous_variant,p.%3D,ENST00000525208,;GSDMD,downstream_gene_variant,,ENST00000533348,;GSDMD,downstream_gene_variant,,ENST00000534018,;GSDMD,downstream_gene_variant,,ENST00000529854,;MROH6,downstream_gene_variant,,ENST00000533679,;MROH6,downstream_gene_variant,,ENST00000532862,;MROH6,downstream_gene_variant,,ENST00000524906,;GSDMD,downstream_gene_variant,,ENST00000533888,;MROH6,downstream_gene_variant,,ENST00000534459,;GSDMD,downstream_gene_variant,,ENST00000525721,;MROH6,downstream_gene_variant,,ENST00000398882,;MROH6,downstream_gene_variant,,ENST00000532704,;GSDMD,non_coding_transcript_exon_variant,,ENST00000526469,;GSDMD,non_coding_transcript_exon_variant,,ENST00000524846,;GSDMD,non_coding_transcript_exon_variant,,ENST00000531173,;GSDMD,non_coding_transcript_exon_variant,,ENST00000531184,;GSDMD,non_coding_transcript_exon_variant,,ENST00000528475,;MROH6,downstream_gene_variant,,ENST00000533083,;GSDMD,downstream_gene_variant,,ENST00000534602,;MROH6,downstream_gene_variant,,ENST00000533120,;GSDMD,downstream_gene_variant,,ENST00000526051,;MROH6,downstream_gene_variant,,ENST00000533210,;	2166	83	104	SUCCESS
GSDMD	79792	.	GRCh37	8	144644913	144644913	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	83	99	0	ENST00000262580.4:c.1294T>A	p.Trp432Arg	p.W432R	ENST00000262580	NM_024736.6	432	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS34956.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGGGGC	NONE	.	.	Pfam_domain:PF04598,hmmpanther:PTHR16399:SF15,hmmpanther:PTHR16399	.	.	ENSP00000433209	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000526406	Transcript	.	.	ENSG00000104518	25697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.1)	.	GSDMD_HUMAN	GSDMD	HGNC	E9PRF1_HUMAN,E9PQR9_HUMAN,E9PQ48_HUMAN,E9PNZ0_HUMAN,B3KTX1_HUMAN	.	UPI00001291ED	SNV	GSDMD,missense_variant,p.Trp432Arg,ENST00000262580,;GSDMD,missense_variant,p.Leu125Gln,ENST00000525208,;GSDMD,missense_variant,p.Trp432Arg,ENST00000526406,;GSDMD,missense_variant,p.Trp480Arg,ENST00000533063,;GSDMD,downstream_gene_variant,,ENST00000533348,;GSDMD,downstream_gene_variant,,ENST00000534018,;GSDMD,downstream_gene_variant,,ENST00000529854,;MROH6,downstream_gene_variant,,ENST00000533679,;MROH6,downstream_gene_variant,,ENST00000532862,;MROH6,downstream_gene_variant,,ENST00000524906,;GSDMD,downstream_gene_variant,,ENST00000533888,;MROH6,downstream_gene_variant,,ENST00000534459,;GSDMD,downstream_gene_variant,,ENST00000525721,;MROH6,downstream_gene_variant,,ENST00000398882,;MROH6,downstream_gene_variant,,ENST00000532704,;GSDMD,non_coding_transcript_exon_variant,,ENST00000526469,;GSDMD,non_coding_transcript_exon_variant,,ENST00000524846,;GSDMD,non_coding_transcript_exon_variant,,ENST00000531173,;GSDMD,non_coding_transcript_exon_variant,,ENST00000531184,;GSDMD,non_coding_transcript_exon_variant,,ENST00000528475,;MROH6,downstream_gene_variant,,ENST00000533083,;GSDMD,downstream_gene_variant,,ENST00000534602,;MROH6,downstream_gene_variant,,ENST00000533120,;GSDMD,downstream_gene_variant,,ENST00000526051,;MROH6,downstream_gene_variant,,ENST00000533210,;	2177	99	122	SUCCESS
NRBP2	340371	.	GRCh37	8	144919472	144919473	+	splice_acceptor_variant	Splice_Site	INS	-	-	TGGCA	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	66	0	ENST00000442628.2:c.1077-6_1077-2dup		p.X359_splice	ENST00000442628	NM_178564.3	359		0	.	.	.	.	.	TGGCA	.	protein_coding	YES	CCDS34959.2	.	INDELOCATOR|VARSCANI	.	AGTACCTGGCA	NONE	.	.	.	.	.	ENSP00000414055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000442628	Transcript	.	.	ENSG00000185189	19339	.	.	HIGH	12/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRBP2_HUMAN	NRBP2	HGNC	E9PR11_HUMAN,D3DWK9_HUMAN	.	UPI00017A7042	insertion	NRBP2,splice_acceptor_variant,,ENST00000442628,;NRBP2,splice_acceptor_variant,,ENST00000327830,;NRBP2,downstream_gene_variant,,ENST00000530347,;NRBP2,upstream_gene_variant,,ENST00000530123,;RP11-299M14.2,upstream_gene_variant,,ENST00000534006,;NRBP2,splice_acceptor_variant,,ENST00000533846,;NRBP2,splice_acceptor_variant,,ENST00000529747,;NRBP2,splice_acceptor_variant,,ENST00000531729,;NRBP2,splice_acceptor_variant,,ENST00000423469,;NRBP2,splice_acceptor_variant,,ENST00000532940,;NRBP2,splice_acceptor_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000527545,;	.	66	105	SUCCESS
GPT	2875	.	GRCh37	8	145730179	145730179	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	18	145	0	ENST00000394955.2:c.278A>T	p.Asp93Val	p.D93V	ENST00000394955	NM_005309.2	93	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6430.1	278	MUTECT|MUSE	.	CCCTGATCTTC	NONE	.	.	hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF308,Pfam_domain:PF00155,Superfamily_domains:SSF53383	.	.	ENSP00000378408	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000394955	Transcript	.	.	ENSG00000167701	4552	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.281)	.	tolerated(0.05)	.	ALAT1_HUMAN	GPT	HGNC	.	.	UPI0000001054	SNV	GPT,missense_variant,p.Asp93Val,ENST00000528431,;GPT,missense_variant,p.Asp93Val,ENST00000394955,;MFSD3,upstream_gene_variant,,ENST00000301327,;PPP1R16A,downstream_gene_variant,,ENST00000528430,;PPP1R16A,downstream_gene_variant,,ENST00000435887,;PPP1R16A,downstream_gene_variant,,ENST00000292539,;CTD-2517M22.14,intron_variant,,ENST00000527086,;GPT,non_coding_transcript_exon_variant,,ENST00000527165,;GPT,non_coding_transcript_exon_variant,,ENST00000354769,;GPT,non_coding_transcript_exon_variant,,ENST00000531330,;GPT,non_coding_transcript_exon_variant,,ENST00000534702,;CTD-2517M22.14,intron_variant,,ENST00000528690,;GPT,intron_variant,,ENST00000527961,;PPP1R16A,downstream_gene_variant,,ENST00000526183,;CTD-2517M14.5,upstream_gene_variant,,ENST00000569326,;PPP1R16A,downstream_gene_variant,,ENST00000532806,;PPP1R16A,downstream_gene_variant,,ENST00000526564,;MFSD3,upstream_gene_variant,,ENST00000528047,;MFSD3,upstream_gene_variant,,ENST00000526749,;	501	145	202	SUCCESS
CHRNA2	1135	.	GRCh37	8	27320514	27320514	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	22	109	0	ENST00000407991.1:c.1446T>C	p.Ser482=	p.S482=	ENST00000407991	NM_000742.3	482	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6059.1	1446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAGACCG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF83,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000385026	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,synonymous_variant,p.%3D,ENST00000407991,;CHRNA2,synonymous_variant,p.%3D,ENST00000240132,;CHRNA2,synonymous_variant,p.%3D,ENST00000520933,;PTK2B,downstream_gene_variant,,ENST00000338238,;PTK2B,downstream_gene_variant,,ENST00000517339,;PTK2B,downstream_gene_variant,,ENST00000420218,;PTK2B,downstream_gene_variant,,ENST00000544172,;PTK2B,downstream_gene_variant,,ENST00000397501,;PTK2B,downstream_gene_variant,,ENST00000346049,;CHRNA2,3_prime_UTR_variant,,ENST00000523695,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,intron_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000522008,;PTK2B,downstream_gene_variant,,ENST00000522245,;	2055	109	95	SUCCESS
EXTL3	2137	.	GRCh37	8	28574774	28574774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	80	0	ENST00000220562.4:c.1198T>C	p.Cys400Arg	p.C400R	ENST00000220562	NM_001440.3	400	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS6070.1	1198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTGCAAA	NONE	.	.	Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57	.	.	ENSP00000220562	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000220562	Transcript	.	.	ENSG00000012232	3518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	EXTL3_HUMAN	EXTL3	HGNC	E5RIV6_HUMAN,B4DG91_HUMAN	.	UPI000012A35D	SNV	EXTL3,missense_variant,p.Cys16Arg,ENST00000523149,;EXTL3,missense_variant,p.Cys400Arg,ENST00000220562,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,intron_variant,,ENST00000522698,;	2100	80	87	SUCCESS
KCNB2	9312	.	GRCh37	8	73849371	73849371	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs575721225	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	83	63	0	ENST00000523207.1:c.1781T>A	p.Ile594Asn	p.I594N	ENST00000523207	NM_004770.2	594	aTt/aAt	0	.	C:0	.	C:0.0014	.	A	I/N	protein_coding	YES	CCDS6209.1	1781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATTGTGG	NONE	by1000G	.	Pfam_domain:PF03521	C:0	.	ENSP00000430846	C:0	3/3	.	.	.	.	.	.	.	.	rs575721225	3/3	PASS	ENST00000523207	Transcript	.	C:0.0002	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	C:0	deleterious_low_confidence(0)	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Ile594Asn,ENST00000523207,;	2369	63	116	SUCCESS
PPP1R3B	79660	.	GRCh37	8	8998473	8998473	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761789006	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	271	166	518	0	ENST00000310455.3:c.689A>G	p.Tyr230Cys	p.Y230C	ENST00000310455	NM_024607.3	230	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5973.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTATAGTTC	NONE	byFrequency	.	PROSITE_profiles:PS51159,hmmpanther:PTHR12307:SF13,hmmpanther:PTHR12307,Pfam_domain:PF03370,PIRSF_domain:PIRSF038207,PIRSF_domain:PIRSF500814	.	.	ENSP00000308318	.	2/2	.	.	.	.	.	.	.	.	rs761789006	2/2	PASS	ENST00000310455	Transcript	.	.	ENSG00000173281	14942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PPR3B_HUMAN	PPP1R3B	HGNC	.	.	UPI000000DA40	SNV	PPP1R3B,missense_variant,p.Tyr230Cys,ENST00000310455,;PPP1R3B,missense_variant,p.Tyr230Cys,ENST00000519699,;RP11-10A14.3,upstream_gene_variant,,ENST00000522057,;RP11-10A14.3,upstream_gene_variant,,ENST00000520017,;	840	518	437	SUCCESS
TMEM64	169200	.	GRCh37	8	91643868	91643868	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	44	127	0	ENST00000458549.2:c.863T>C	p.Leu288Pro	p.L288P	ENST00000458549	NM_001008495.3	288	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34920.2	863	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCAGAAGC	NONE	.	.	hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF5,Pfam_domain:PF09335	.	.	ENSP00000414786	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000458549	Transcript	.	.	ENSG00000180694	25441	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TMM64_HUMAN	TMEM64	HGNC	B3KW24_HUMAN	.	UPI0000DBEF28	SNV	TMEM64,missense_variant,p.Leu27Pro,ENST00000519519,;TMEM64,missense_variant,p.Leu288Pro,ENST00000458549,;TMEM64,missense_variant,p.Leu27Pro,ENST00000521852,;TMEM64,intron_variant,,ENST00000418210,;TMEM64,intron_variant,,ENST00000422900,;	1041	127	262	SUCCESS
SLC26A7	115111	.	GRCh37	8	92261829	92261830	+	5_prime_UTR_variant	5'UTR	INS	-	-	T	rs1486503668	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	39	0	ENST00000276609.3:c.-43dup		p.*15*	ENST00000276609	NM_052832.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6255.1	.	INDELOCATOR|VARSCANI	.	CAATGATTTTT	NONE	.	.	.	.	.	ENSP00000309504	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	8	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	insertion	SLC26A7,5_prime_UTR_variant,,ENST00000276609,;SLC26A7,5_prime_UTR_variant,,ENST00000309536,;SLC26A7,5_prime_UTR_variant,,ENST00000523719,;SLC26A7,intron_variant,,ENST00000522862,;SLC26A7,intron_variant,,ENST00000522181,;	170-171	39	69	SUCCESS
MUSK	4593	.	GRCh37	9	113563239	113563239	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	62	0	ENST00000374448.4:c.2581G>T	p.Glu861Ter	p.E861*	ENST00000374448	NM_005592.3	861	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS48005.1	2581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGAGAGG	BUFFER|p.R858H|c.2573G>A|3	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63	.	.	ENSP00000363571	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,stop_gained,p.Glu861Ter,ENST00000374448,;MUSK,stop_gained,p.Glu861Ter,ENST00000189978,;MUSK,stop_gained,p.Glu853Ter,ENST00000416899,;	2715	62	52	SUCCESS
HAUS6	54801	.	GRCh37	9	19070270	19070270	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	287	160	550	1	ENST00000380502.3:c.1323T>C	p.Asn441=	p.N441=	ENST00000380502	NM_017645.4	441	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS6489.1	1323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCATTTTC	NONE	.	.	hmmpanther:PTHR16151	.	.	ENSP00000369871	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000380502	Transcript	.	.	ENSG00000147874	25948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAUS6_HUMAN	HAUS6	HGNC	Q5SYF9_HUMAN	.	UPI00000740C7	SNV	HAUS6,synonymous_variant,p.%3D,ENST00000380496,;HAUS6,synonymous_variant,p.%3D,ENST00000380502,;RNU6-264P,upstream_gene_variant,,ENST00000517134,;	1791	551	447	SUCCESS
JAK2	3717	.	GRCh37	9	5126358	5126358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	129	0	ENST00000381652.3:c.3203A>G	p.Asp1068Gly	p.D1068G	ENST00000381652	NM_004972.3	1068	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6457.1	3203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGACAAAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000371067	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000381652	Transcript	.	.	ENSG00000096968	6192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	tolerated(0.08)	.	JAK2_HUMAN	JAK2	HGNC	Q8IXP2_HUMAN,F5H5U8_HUMAN	.	UPI000012DA9E	SNV	JAK2,missense_variant,p.Asp919Gly,ENST00000544510,;JAK2,missense_variant,p.Asp1068Gly,ENST00000539801,;JAK2,missense_variant,p.Asp1068Gly,ENST00000381652,;JAK2,non_coding_transcript_exon_variant,,ENST00000487310,;	3697	129	125	SUCCESS
RLN2	6019	.	GRCh37	9	5300172	5300172	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774486256	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	98	349	0	ENST00000381627.3:c.484C>A	p.Gln162Lys	p.Q162K	ENST00000381627	NM_134441.2	162	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS6460.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTGTCTCT	NONE	.	.	Superfamily_domains:SSF56994,SMART_domains:SM00078,Pfam_domain:PF00049,Gene3D:1.10.100.10,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF5	.	.	ENSP00000371040	.	2/2	.	.	.	.	.	.	.	.	rs774486256	2/2	PASS	ENST00000381627	Transcript	.	.	ENSG00000107014	10027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.07)	.	REL2_HUMAN	RLN2	HGNC	.	.	UPI000002C1A0	SNV	RLN2,missense_variant,p.Gln162Lys,ENST00000381627,;RLN2,3_prime_UTR_variant,,ENST00000416837,;RLN2,3_prime_UTR_variant,,ENST00000308420,;	873	349	285	SUCCESS
UHRF2	115426	.	GRCh37	9	6482012	6482012	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	194	103	334	0	ENST00000276893.5:c.1305T>G	p.Arg435=	p.R435=	ENST00000276893	NM_152896.2	435	cgT/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS6469.1	1305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGTACGAG	NONE	.	.	hmmpanther:PTHR14140,hmmpanther:PTHR14140:SF3,Superfamily_domains:SSF88697	.	.	ENSP00000276893	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000276893	Transcript	.	.	ENSG00000147854	12557	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UHRF2_HUMAN	UHRF2	HGNC	.	.	UPI000006E524	SNV	UHRF2,synonymous_variant,p.%3D,ENST00000276893,;UHRF2,downstream_gene_variant,,ENST00000450508,;UHRF2,upstream_gene_variant,,ENST00000485617,;UHRF2,upstream_gene_variant,,ENST00000477183,;UHRF2,synonymous_variant,p.%3D,ENST00000468435,;UHRF2,non_coding_transcript_exon_variant,,ENST00000484159,;	1473	334	297	SUCCESS
MAP7D2	256714	.	GRCh37	X	20074814	20074814	+	synonymous_variant	Silent	SNP	T	T	C	rs371876821	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	51	0	ENST00000379651.3:c.468A>G	p.Gly156=	p.G156=	ENST00000379651	NM_152780.3	156	ggA/ggG	0	C:0.0003	.	.	.	.	C	G	protein_coding	YES	CCDS55386.1	468	MUTECT|VARSCANS	.	CCGGGTCCAAT	NONE	byCluster	.	hmmpanther:PTHR15073:SF3,hmmpanther:PTHR15073	.	C:0	ENSP00000368964	.	4/17	.	.	.	.	.	.	.	.	rs371876821	4/17	PASS	ENST00000379643	Transcript	.	.	ENSG00000184368	25899	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MA7D2_HUMAN	MAP7D2	HGNC	.	.	UPI00015E039B	SNV	MAP7D2,synonymous_variant,p.%3D,ENST00000379643,;MAP7D2,synonymous_variant,p.%3D,ENST00000443379,;MAP7D2,synonymous_variant,p.%3D,ENST00000543767,;MAP7D2,synonymous_variant,p.%3D,ENST00000452324,;MAP7D2,synonymous_variant,p.%3D,ENST00000379651,;MAP7D2,synonymous_variant,p.%3D,ENST00000485173,;	506	51	49	SUCCESS
OR2M3	127062	.	GRCh37	1	248366692	248366692	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-BC-A10X-01	TCGA-BC-A10X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	280	15	390	0	ENST00000456743.1:c.323T>C	p.Leu108Pro	p.L108P	ENST00000456743	NM_001004689.1	108	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31107.1	323	MUTECT|MUSE	.	ACTGCTTGGCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000389625	.	1/1	.	.	.	.	.	.	.	.	COSM3487033	1/1	PASS	ENST00000456743	Transcript	.	.	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.527)	.	tolerated(0.21)	1	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.Leu108Pro,ENST00000456743,;	361	390	296	SUCCESS
TTBK1	84630	.	GRCh37	6	43223474	43223474	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10X-01	TCGA-BC-A10X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	71	0	ENST00000259750.4:c.741G>A	p.Gln247=	p.Q247=	ENST00000259750	NM_032538.1	247	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS34455.1	741	RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGGTAGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000259750	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,synonymous_variant,p.%3D,ENST00000304139,;TTBK1,synonymous_variant,p.%3D,ENST00000259750,;	824	71	44	SUCCESS
BBS9	27241	.	GRCh37	7	33192380	33192380	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10X-01	TCGA-BC-A10X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	52	0	ENST00000242067.6:c.180A>G	p.Gly60=	p.G60=	ENST00000242067	NM_198428.2	60	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS43566.1	180	RADIA|MUTECT|VARSCANS	.	ACAGGAGATGG	NONE	.	.	Pfam_domain:PF14727,hmmpanther:PTHR20991:SF0,hmmpanther:PTHR20991	.	.	ENSP00000242067	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000242067	Transcript	.	.	ENSG00000122507	30000	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTHB1_HUMAN	BBS9	HGNC	C9JRR5_HUMAN,C9JJ08_HUMAN	.	UPI000020ED57	SNV	BBS9,synonymous_variant,p.%3D,ENST00000242067,;BBS9,synonymous_variant,p.%3D,ENST00000425508,;BBS9,synonymous_variant,p.%3D,ENST00000350941,;BBS9,synonymous_variant,p.%3D,ENST00000396127,;BBS9,synonymous_variant,p.%3D,ENST00000432983,;BBS9,synonymous_variant,p.%3D,ENST00000355070,;BBS9,synonymous_variant,p.%3D,ENST00000354265,;BBS9,upstream_gene_variant,,ENST00000442858,;BBS9,non_coding_transcript_exon_variant,,ENST00000482941,;BBS9,non_coding_transcript_exon_variant,,ENST00000465037,;BBS9,synonymous_variant,p.%3D,ENST00000433714,;	701	52	40	SUCCESS
TRPA1	8989	.	GRCh37	8	72967784	72967784	+	synonymous_variant	Silent	SNP	C	C	T	rs555738685	.	TCGA-BC-A10X-01	TCGA-BC-A10X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	528	28	858	1	ENST00000262209.4:c.1416G>A	p.Thr472=	p.T472=	ENST00000262209	NM_007332.2	472	acG/acA	0	.	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS34908.1	1416	MUTECT|MUSE	.	AGCCTCGTATC	NONE	by1000G	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	T:0	.	ENSP00000262209	T:0	12/27	.	.	.	.	.	.	.	.	rs555738685	12/27	PASS	ENST00000262209	Transcript	1	T:0.0002	ENSG00000104321	497	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,synonymous_variant,p.%3D,ENST00000523582,;TRPA1,synonymous_variant,p.%3D,ENST00000262209,;RP11-383H13.1,downstream_gene_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,downstream_gene_variant,,ENST00000512290,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000520788,;RP11-383H13.1,downstream_gene_variant,,ENST00000522519,;	1624	859	556	SUCCESS
JMJD1C	221037	.	GRCh37	10	64952867	64952867	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	57	152	0	ENST00000399262.2:c.5907C>T	p.Cys1969=	p.C1969=	ENST00000399262	NM_032776.1	1969	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS41532.1	5907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGCACAG	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,synonymous_variant,p.%3D,ENST00000399262,;JMJD1C,synonymous_variant,p.%3D,ENST00000327520,;JMJD1C,synonymous_variant,p.%3D,ENST00000542921,;JMJD1C,3_prime_UTR_variant,,ENST00000399251,;JMJD1C,intron_variant,,ENST00000402544,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000497922,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000490669,;JMJD1C,downstream_gene_variant,,ENST00000483298,;	6126	152	132	SUCCESS
ROBO3	64221	.	GRCh37	11	124747395	124747395	+	intron_variant	Intron	SNP	G	G	A	rs748403857	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	44	66	0	ENST00000397801.1:c.2847-20G>A		p.*949*	ENST00000397801	NM_022370.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44755.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGCTCAC	NONE	.	.	.	.	.	ENSP00000380903	.	.	.	.	.	.	.	.	.	.	rs748403857	.	PASS	ENST00000397801	Transcript	.	.	ENSG00000154134	13433	.	.	MODIFIER	19/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO3_HUMAN	ROBO3	HGNC	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN	.	UPI000035AA82	SNV	ROBO3,5_prime_UTR_variant,,ENST00000543966,;ROBO3,intron_variant,,ENST00000538940,;ROBO3,intron_variant,,ENST00000397801,;ROBO3,intron_variant,,ENST00000525482,;ROBO3,intron_variant,,ENST00000531075,;ROBO3,intron_variant,,ENST00000528144,;ROBO3,intron_variant,,ENST00000531545,;ROBO3,intron_variant,,ENST00000532472,;ROBO3,intron_variant,,ENST00000528820,;ROBO3,intron_variant,,ENST00000526551,;ROBO3,non_coding_transcript_exon_variant,,ENST00000531888,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,intron_variant,,ENST00000534598,;ROBO3,intron_variant,,ENST00000527196,;ROBO3,intron_variant,,ENST00000529658,;ROBO3,intron_variant,,ENST00000528068,;ROBO3,intron_variant,,ENST00000530647,;ROBO3,intron_variant,,ENST00000531119,;ROBO3,intron_variant,,ENST00000525448,;ROBO3,upstream_gene_variant,,ENST00000525304,;ROBO3,upstream_gene_variant,,ENST00000524971,;	.	67	86	SUCCESS
PHRF1	57661	.	GRCh37	11	608299	608299	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200183606	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	20	0	ENST00000264555.5:c.2843C>T	p.Ser948Phe	p.S948F	ENST00000264555	NM_020901.2	948	tCt/tTt	0	T:0	.	.	.	.	T	S/F	protein_coding	YES	CCDS44507.1	2840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGTCTTGCA	NONE	byCluster	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	T:0.0002	ENSP00000410626	.	14/18	.	.	.	.	.	.	.	.	rs200183606	14/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0.05)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Ser948Phe,ENST00000264555,;PHRF1,missense_variant,p.Ser946Phe,ENST00000413872,;PHRF1,missense_variant,p.Ser944Phe,ENST00000533464,;PHRF1,missense_variant,p.Ser947Phe,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,missense_variant,p.Ser948Phe,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;	2933	20	28	SUCCESS
KRT8	3856	.	GRCh37	12	53294400	53294400	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	42	0	ENST00000293308.6:c.662T>C	p.Ile221Thr	p.I221T	ENST00000293308	NM_002273.3	221	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS58234.1	746	RADIA|VARSCANS	.	AGTTGATCTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46579,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF104,hmmpanther:PTHR23239	.	.	ENSP00000449404	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000552150	Transcript	.	.	ENSG00000170421	6446	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	K2C8_HUMAN	KRT8	HGNC	Q969I0_HUMAN,Q7L4M3_HUMAN,F8VUG2_HUMAN,F8VRG4_HUMAN,F8VP67_HUMAN	.	UPI0001892789	SNV	KRT8,missense_variant,p.Ile104Thr,ENST00000546900,;KRT8,missense_variant,p.Ile51Thr,ENST00000547176,;KRT8,missense_variant,p.Ile221Thr,ENST00000546826,;KRT8,missense_variant,p.Ile261Thr,ENST00000548998,;KRT8,missense_variant,p.Ile221Thr,ENST00000546897,;KRT8,missense_variant,p.Ile221Thr,ENST00000552551,;KRT8,missense_variant,p.Ile221Thr,ENST00000293308,;KRT8,missense_variant,p.Ile249Thr,ENST00000552150,;KRT8,downstream_gene_variant,,ENST00000546542,;KRT8,downstream_gene_variant,,ENST00000547413,;KRT8,non_coding_transcript_exon_variant,,ENST00000550170,;KRT8,non_coding_transcript_exon_variant,,ENST00000549176,;KRT8,non_coding_transcript_exon_variant,,ENST00000547031,;KRT8,non_coding_transcript_exon_variant,,ENST00000546583,;	766	42	35	SUCCESS
ATP5B	0	.	GRCh37	12	57032145	57032145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	128	0	ENST00000262030.3:c.1552G>A	p.Ala518Thr	p.A518T	ENST00000262030	NM_001686.3	518	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8924.1	1552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCCACAG	NONE	.	.	Superfamily_domains:SSF47917,TIGRFAM_domain:TIGR01039,Gene3D:2ck3F03,Pfam_domain:PF00306,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347	.	.	ENSP00000262030	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262030	Transcript	.	.	ENSG00000110955	830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.08)	.	ATPB_HUMAN	ATP5B	HGNC	Q0QEN7_HUMAN	.	UPI000012644E	SNV	ATP5B,missense_variant,p.Ala507Thr,ENST00000552919,;ATP5B,missense_variant,p.Ala518Thr,ENST00000262030,;ATP5B,downstream_gene_variant,,ENST00000551570,;ATP5B,downstream_gene_variant,,ENST00000552104,;BAZ2A,upstream_gene_variant,,ENST00000379441,;ATP5B,downstream_gene_variant,,ENST00000552959,;ATP5B,downstream_gene_variant,,ENST00000553007,;BAZ2A,upstream_gene_variant,,ENST00000549506,;BAZ2A,upstream_gene_variant,,ENST00000551812,;BAZ2A,upstream_gene_variant,,ENST00000179765,;ATP5B,downstream_gene_variant,,ENST00000551020,;ATP5B,non_coding_transcript_exon_variant,,ENST00000551182,;ATP5B,non_coding_transcript_exon_variant,,ENST00000548474,;ATP5B,downstream_gene_variant,,ENST00000547808,;ATP5B,downstream_gene_variant,,ENST00000550162,;BAZ2A,upstream_gene_variant,,ENST00000550730,;ATP5B,downstream_gene_variant,,ENST00000547250,;	1603	128	133	SUCCESS
ATP8A2	51761	.	GRCh37	13	26153014	26153014	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1277027012	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	99	0	ENST00000381655.2:c.1844A>G	p.His615Arg	p.H615R	ENST00000381655	NM_016529.4	615	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS41873.1	1844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCATCTGG	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000371070	.	21/37	.	.	.	.	.	.	.	.	COSM4046765	21/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.784)	.	deleterious(0)	1	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.His575Arg,ENST00000255283,;ATP8A2,missense_variant,p.His615Arg,ENST00000381655,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,missense_variant,p.His455Arg,ENST00000281620,;	1986	99	85	SUCCESS
BRCA2	675	.	GRCh37	13	32914712	32914712	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs34309943	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	116	0	ENST00000380152.3:c.6220C>G	p.His2074Asp	p.H2074D	ENST00000380152		2074	Cac/Gac	0	A:0.0102	A:0.0098	.	A:0.0014	.	G	H/D	protein_coding	YES	CCDS9344.1	6220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	benign	CCTTACACAAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50138,hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,Pfam_domain:PF00634,PIRSF_domain:PIRSF002397	A:0	A:0	ENSP00000439902	A:0	11/28	.	.	.	.	.	.	.	.	CM012589,rs34309943	11/28	PASS	ENST00000544455	Transcript	.	A:0.0028	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.138)	A:0	tolerated(0.17)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.His2074Asp,ENST00000544455,;BRCA2,missense_variant,p.His2074Asp,ENST00000380152,;	6447	116	91	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049710	36049710	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	88	0	ENST00000379919.4:c.566T>C	p.Leu189Pro	p.L189P	ENST00000379919	NM_005584.4	189	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9353.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAAGTGGC	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.27)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Leu189Pro,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1123	88	46	SUCCESS
DCLK1	9201	.	GRCh37	13	36385025	36385025	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	98	179	0	ENST00000360631.3:c.1635C>A	p.Tyr545Ter	p.Y545*	ENST00000360631		545	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS9354.1	1635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGTACAG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	.	.	ENSP00000255448	.	12/18	.	.	.	.	.	.	.	.	COSM1629073,COSM1629071,COSM1629072	12/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,stop_gained,p.Tyr545Ter,ENST00000360631,;DCLK1,stop_gained,p.Tyr238Ter,ENST00000379893,;DCLK1,stop_gained,p.Tyr545Ter,ENST00000255448,;DCLK1,upstream_gene_variant,,ENST00000486239,;	1847	179	223	SUCCESS
OR4M1	441670	.	GRCh37	14	20249191	20249191	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1333211973	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	337	258	612	0	ENST00000315957.4:c.710G>A	p.Arg237Lys	p.R237K	ENST00000315957	NM_001005500.1	237	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS32021.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGGGCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000319654	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315957	Transcript	.	.	ENSG00000176299	14735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	OR4M1_HUMAN	OR4M1	HGNC	.	.	UPI0000061F0F	SNV	OR4M1,missense_variant,p.Arg237Lys,ENST00000315957,;OR4N2,intron_variant,,ENST00000557414,;	791	612	596	SUCCESS
POLE2	5427	.	GRCh37	14	50140883	50140883	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	70	163	0	ENST00000216367.5:c.375T>C	p.Asp125=	p.D125=	ENST00000216367	NM_002692.3	125	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS32073.1	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTATCTCT	NONE	.	.	hmmpanther:PTHR12708,hmmpanther:PTHR12708:SF0,PIRSF_domain:PIRSF000799	.	.	ENSP00000216367	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000216367	Transcript	.	.	ENSG00000100479	9178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOE2_HUMAN	POLE2	HGNC	.	.	UPI0000129744	SNV	POLE2,synonymous_variant,p.%3D,ENST00000539565,;POLE2,synonymous_variant,p.%3D,ENST00000216367,;POLE2,synonymous_variant,p.%3D,ENST00000554396,;POLE2,non_coding_transcript_exon_variant,,ENST00000556584,;RP11-831F12.3,upstream_gene_variant,,ENST00000554632,;	475	163	153	SUCCESS
NID2	22795	.	GRCh37	14	52520942	52520942	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200644684	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	60	0	ENST00000216286.5:c.865G>A	p.Ala289Thr	p.A289T	ENST00000216286	NM_007361.3	289	Gct/Act	0	A:0.0002	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS9706.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGGAAA	NONE	byCluster|by1000G	.	.	T:0.001	A:0	ENSP00000216286	T:0	4/22	.	.	.	.	.	.	.	.	rs200644684,COSM191075	4/22	PASS	ENST00000216286	Transcript	.	T:0.0002	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	T:0	tolerated(0.69)	0,1	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Ala236Thr,ENST00000541773,;NID2,missense_variant,p.Ala289Thr,ENST00000216286,;	865	60	69	SUCCESS
GPHN	10243	.	GRCh37	14	67646366	67646366	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	125	301	0	ENST00000315266.5:c.2052A>T	p.Glu684Asp	p.E684D	ENST00000315266	NM_001024218.1	684	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS9777.1	2151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAACCACT	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF03454,Gene3D:2.40.340.10,Superfamily_domains:SSF63867	.	.	ENSP00000417901	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	tolerated(0.35)	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,missense_variant,p.Glu730Asp,ENST00000543237,;GPHN,missense_variant,p.Glu653Asp,ENST00000305960,;GPHN,missense_variant,p.Glu717Asp,ENST00000478722,;GPHN,missense_variant,p.Glu684Asp,ENST00000315266,;GPHN,upstream_gene_variant,,ENST00000556240,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;	3272	301	271	SUCCESS
CCDC88C	440193	.	GRCh37	14	91770248	91770248	+	synonymous_variant	Silent	SNP	C	C	T	rs1179685333	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	45	88	0	ENST00000389857.6:c.3432G>A	p.Thr1144=	p.T1144=	ENST00000389857	NM_001080414.3	1144	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45151.1	3432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCGTGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31	.	.	ENSP00000374507	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,synonymous_variant,p.%3D,ENST00000389857,;	3519	88	105	SUCCESS
APBA2	321	.	GRCh37	15	29346830	29346830	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	53	108	0	ENST00000558259.1:c.743C>T	p.Ala248Val	p.A248V	ENST00000558259	NM_005503.3	248	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10022.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCCAGCC	NONE	.	.	hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12	.	.	ENSP00000453293	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated_low_confidence(0.12)	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,missense_variant,p.Ala248Val,ENST00000558259,;APBA2,missense_variant,p.Ala248Val,ENST00000561069,;APBA2,missense_variant,p.Ala248Val,ENST00000558402,;APBA2,missense_variant,p.Ala248Val,ENST00000558330,;APBA2,missense_variant,p.Ala248Val,ENST00000558358,;APBA2,missense_variant,p.Ala248Val,ENST00000411764,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	1342	108	116	SUCCESS
SEMA7A	8482	.	GRCh37	15	74709733	74709733	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753166445	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	41	112	1	ENST00000261918.4:c.604C>T	p.Arg202Trp	p.R202W	ENST00000261918	NM_003612.3	202	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10262.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGAGGGA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000261918	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,missense_variant,p.Arg37Trp,ENST00000567345,;SEMA7A,missense_variant,p.Arg202Trp,ENST00000261918,;SEMA7A,missense_variant,p.Arg37Trp,ENST00000542748,;SEMA7A,missense_variant,p.Arg188Trp,ENST00000543145,;	1153	113	179	SUCCESS
ACSBG1	23205	.	GRCh37	15	78472115	78472136	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCAGGTCGCTGGTGGGAGAGGG	TCAGGTCGCTGGTGGGAGAGGG	-	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	TCAGGTCGCTGGTGGGAGAGGG	TCAGGTCGCTGGTGGGAGAGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	95	21	82	0	ENST00000258873.4:c.1254-14_1261del		p.X418_splice	ENST00000258873	NM_001199377.1	418		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10298.1	?-1261	INDELOCATOR*|PINDEL	.	AGGGCTTCAGGTCGCTGGTGGGAGAGGGAGAAT	NONE	.	.	.	.	.	ENSP00000258873	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000258873	Transcript	.	.	ENSG00000103740	29567	.	.	HIGH	9/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACBG1_HUMAN	ACSBG1	HGNC	H0YNX0_HUMAN,F5H4U6_HUMAN	.	UPI000006E955	deletion	ACSBG1,splice_acceptor_variant,,ENST00000560817,;ACSBG1,splice_acceptor_variant,,ENST00000258873,;ACSBG1,splice_acceptor_variant,,ENST00000541759,;ACSBG1,downstream_gene_variant,,ENST00000559114,;ACSBG1,downstream_gene_variant,,ENST00000559241,;ACSBG1,splice_acceptor_variant,,ENST00000558301,;ACSBG1,splice_acceptor_variant,,ENST00000560124,;ACSBG1,splice_acceptor_variant,,ENST00000558728,;ACSBG1,splice_acceptor_variant,,ENST00000559707,;ACSBG1,upstream_gene_variant,,ENST00000560183,;ACSBG1,downstream_gene_variant,,ENST00000557935,;	?-1467	82	116	SUCCESS
ST8SIA2	8128	.	GRCh37	15	93007604	93007604	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149476731	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	42	0	ENST00000268164.3:c.1117G>T	p.Gly373Trp	p.G373W	ENST00000268164	NM_006011.3	373	Ggg/Tgg	0	T:0.0002	.	.	.	.	T	G/W	protein_coding	YES	CCDS10372.1	1117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATGGGGCC	NONE	byCluster	.	hmmpanther:PTHR11987:SF30,hmmpanther:PTHR11987	.	T:0	ENSP00000268164	.	6/6	.	.	.	.	.	.	.	.	rs149476731	6/6	PASS	ENST00000268164	Transcript	.	.	ENSG00000140557	10870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	.	.	SIA8B_HUMAN	ST8SIA2	HGNC	B2R9U8_HUMAN	.	UPI0000135970	SNV	ST8SIA2,missense_variant,p.Gly352Trp,ENST00000539113,;ST8SIA2,missense_variant,p.Gly330Trp,ENST00000555434,;ST8SIA2,missense_variant,p.Gly373Trp,ENST00000268164,;	1354	42	82	SUCCESS
AC004381.6	0	.	GRCh37	16	20826252	20826252	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201728796	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	66	192	0	ENST00000261377.6:c.255G>T	p.Trp85Cys	p.W85C	ENST00000261377	NM_030941.2	85	tgG/tgT	0	.	A:0.0008	.	A:0	.	T	W/C	protein_coding	YES	CCDS10591.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGTGCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR12801:SF61,hmmpanther:PTHR12801	A:0	.	ENSP00000261377	A:0	4/20	.	.	.	.	.	.	.	.	rs201728796	4/20	PASS	ENST00000261377	Transcript	.	A:0.0002	ENSG00000005189	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	REXON_HUMAN	AC004381.6	Clone_based_vega_gene	H3BV93_HUMAN,H3BUT7_HUMAN,H3BSE4_HUMAN,H3BSC5_HUMAN,H3BR13_HUMAN,H3BQ98_HUMAN,H3BPB2_HUMAN,H3BM72_HUMAN	.	UPI0000073454	SNV	AC004381.6,missense_variant,p.Trp85Cys,ENST00000568046,;AC004381.6,missense_variant,p.Trp85Cys,ENST00000568647,;AC004381.6,missense_variant,p.Trp85Cys,ENST00000564274,;AC004381.6,missense_variant,p.Trp85Cys,ENST00000563068,;AC004381.6,missense_variant,p.Trp85Cys,ENST00000261377,;AC004381.6,missense_variant,p.Trp85Cys,ENST00000568894,;AC004381.6,missense_variant,p.Trp85Cys,ENST00000348433,;AC004381.6,5_prime_UTR_variant,,ENST00000563617,;AC004381.6,intron_variant,,ENST00000566276,;AC004381.6,intron_variant,,ENST00000568501,;AC004381.6,intron_variant,,ENST00000565340,;ERI2,intron_variant,,ENST00000564349,;AC004381.6,non_coding_transcript_exon_variant,,ENST00000567297,;AC004381.6,intron_variant,,ENST00000568476,;AC004381.6,intron_variant,,ENST00000566518,;AC004381.6,intron_variant,,ENST00000566993,;	464	192	167	SUCCESS
METTL9	51108	.	GRCh37	16	21636425	21636425	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1378611022	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	152	0	ENST00000358154.3:c.740A>G	p.Tyr247Cys	p.Y247C	ENST00000358154	NM_016025.3	247	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10598.2	740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTATGTGG	NONE	.	.	hmmpanther:PTHR12890,Gene3D:3.40.50.150,Pfam_domain:PF05219,Superfamily_domains:SSF53335	.	.	ENSP00000350874	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000358154	Transcript	.	.	ENSG00000197006	24586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	tolerated(0.11)	.	METL9_HUMAN	METTL9	HGNC	Q8TD49_HUMAN,H3BM54_HUMAN,B2R7Q6_HUMAN	.	UPI0000071713	SNV	METTL9,missense_variant,p.Tyr247Cys,ENST00000396014,;METTL9,missense_variant,p.Tyr136Cys,ENST00000562961,;METTL9,missense_variant,p.Tyr207Cys,ENST00000567404,;METTL9,missense_variant,p.Tyr118Cys,ENST00000569290,;METTL9,missense_variant,p.Tyr247Cys,ENST00000358154,;METTL9,missense_variant,p.Tyr104Cys,ENST00000568826,;CTB-31N19.3,upstream_gene_variant,,ENST00000564271,;METTL9,3_prime_UTR_variant,,ENST00000562379,;	998	152	120	SUCCESS
MAZ	4150	.	GRCh37	16	29820038	29820038	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1472297609	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	88	0	ENST00000322945.6:c.1255C>T	p.His419Tyr	p.H419Y	ENST00000322945	NM_002383.3	419	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS42144.1	1255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCATGTC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR11389:SF422,hmmpanther:PTHR11389,PROSITE_profiles:PS50157	.	.	ENSP00000219782	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000219782	Transcript	.	.	ENSG00000103495	6914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.09)	.	MAZ_HUMAN	MAZ	HGNC	Q9UJ31_HUMAN,Q8IUI2_HUMAN,I3L4Y2_HUMAN,I3L0M3_HUMAN	.	UPI00001AE621	SNV	MAZ,missense_variant,p.His14Tyr,ENST00000562594,;MAZ,missense_variant,p.His396Tyr,ENST00000545521,;MAZ,missense_variant,p.His20Tyr,ENST00000569978,;MAZ,missense_variant,p.His20Tyr,ENST00000568544,;MAZ,missense_variant,p.His94Tyr,ENST00000563012,;MAZ,missense_variant,p.His20Tyr,ENST00000568282,;MAZ,missense_variant,p.His90Tyr,ENST00000568411,;MAZ,missense_variant,p.His169Tyr,ENST00000567444,;MAZ,missense_variant,p.His419Tyr,ENST00000322945,;MAZ,missense_variant,p.His419Tyr,ENST00000219782,;MAZ,missense_variant,p.His20Tyr,ENST00000562557,;MAZ,missense_variant,p.His114Tyr,ENST00000562337,;MAZ,intron_variant,,ENST00000566906,;MAZ,intron_variant,,ENST00000563402,;KIF22,downstream_gene_variant,,ENST00000569382,;KIF22,downstream_gene_variant,,ENST00000561482,;KIF22,downstream_gene_variant,,ENST00000400751,;PRRT2,upstream_gene_variant,,ENST00000300797,;KIF22,downstream_gene_variant,,ENST00000160827,;PRRT2,upstream_gene_variant,,ENST00000358758,;PRRT2,upstream_gene_variant,,ENST00000562148,;PRRT2,upstream_gene_variant,,ENST00000567659,;KIF22,downstream_gene_variant,,ENST00000400750,;PRRT2,upstream_gene_variant,,ENST00000572820,;AC009133.14,non_coding_transcript_exon_variant,,ENST00000569981,;AC009133.14,non_coding_transcript_exon_variant,,ENST00000563806,;AC009133.20,downstream_gene_variant,,ENST00000569039,;AC009133.15,upstream_gene_variant,,ENST00000566537,;PRRT2,upstream_gene_variant,,ENST00000567551,;MAZ,upstream_gene_variant,,ENST00000568516,;MAZ,3_prime_UTR_variant,,ENST00000561855,;MAZ,non_coding_transcript_exon_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000565736,;KIF22,downstream_gene_variant,,ENST00000568312,;	1361	88	78	SUCCESS
ZNF785	146540	.	GRCh37	16	30594358	30594358	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	63	0	ENST00000395216.2:c.741del	p.Arg247SerfsTer183	p.R247Sfs*183	ENST00000395216	NM_152458.6	247	agG/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS10685.1	741	INDELOCATOR|VARSCANI	.	AGCCCGCCTGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF130,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000378642	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000395216	Transcript	.	.	ENSG00000197162	26496	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN785_HUMAN	ZNF785	HGNC	.	.	UPI0000074535	deletion	ZNF785,frameshift_variant,p.Arg232SerfsTer179,ENST00000470110,;ZNF785,frameshift_variant,p.Arg247SerfsTer183,ENST00000395216,;ZNF785,downstream_gene_variant,,ENST00000567773,;AC002310.7,non_coding_transcript_exon_variant,,ENST00000492040,;RP11-146F11.5,upstream_gene_variant,,ENST00000563540,;AC002310.7,downstream_gene_variant,,ENST00000486926,;ZNF785,upstream_gene_variant,,ENST00000562128,;AC002310.17,downstream_gene_variant,,ENST00000564755,;	901	63	62	SUCCESS
ATP2C2	9914	.	GRCh37	16	84486812	84486812	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	96	0	ENST00000262429.4:c.1900A>T	p.Lys634Ter	p.K634*	ENST00000262429	NM_014861.2	634	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS42207.1	1900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGAAGGGC	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01522,Superfamily_domains:SSF56784	.	.	ENSP00000262429	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000262429	Transcript	.	.	ENSG00000064270	29103	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2C2_HUMAN	ATP2C2	HGNC	.	.	UPI0000252110	SNV	ATP2C2,stop_gained,p.Lys634Ter,ENST00000262429,;ATP2C2,stop_gained,p.Lys634Ter,ENST00000416219,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000420010,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565631,;ATP2C2,upstream_gene_variant,,ENST00000567892,;	1989	96	111	SUCCESS
COTL1	23406	.	GRCh37	16	84623756	84623756	+	synonymous_variant	Silent	SNP	G	G	A	rs376530038	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	61	110	0	ENST00000262428.4:c.273C>T	p.Arg91=	p.R91=	ENST00000262428	NM_021149.2	91	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS10947.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCGCGCTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51263,hmmpanther:PTHR10829:SF13,hmmpanther:PTHR10829,Gene3D:3.40.20.10,Pfam_domain:PF00241,SMART_domains:SM00102,Superfamily_domains:SSF55753	.	.	ENSP00000262428	.	3/4	.	.	.	.	.	.	.	.	rs376530038	3/4	PASS	ENST00000262428	Transcript	.	.	ENSG00000103187	18304	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COTL1_HUMAN	COTL1	HGNC	H3BT58_HUMAN	.	UPI0000127CAD	SNV	COTL1,synonymous_variant,p.%3D,ENST00000564057,;COTL1,synonymous_variant,p.%3D,ENST00000262428,;RP11-61F12.1,upstream_gene_variant,,ENST00000564809,;COTL1,non_coding_transcript_exon_variant,,ENST00000564662,;COTL1,non_coding_transcript_exon_variant,,ENST00000561707,;	436	110	120	SUCCESS
ULK2	9706	.	GRCh37	17	19705133	19705133	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758199355	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	54	122	1	ENST00000361658.2:c.1398G>T	p.Arg466Ser	p.R466S	ENST00000361658	NM_001142610.1	466	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11213.1	1398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCCTTCG	NONE	.	.	hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18,PIRSF_domain:PIRSF000580	.	.	ENSP00000378914	.	16/27	.	.	.	.	.	.	.	.	rs758199355	16/27	PASS	ENST00000395544	Transcript	.	.	ENSG00000083290	13480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ULK2_HUMAN	ULK2	HGNC	.	.	UPI000013D19B	SNV	ULK2,missense_variant,p.Arg466Ser,ENST00000395544,;ULK2,missense_variant,p.Arg466Ser,ENST00000361658,;ULK2,non_coding_transcript_exon_variant,,ENST00000580130,;ULK2,downstream_gene_variant,,ENST00000574854,;	1898	123	152	SUCCESS
G6PC	0	.	GRCh37	17	41063222	41063222	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	62	140	0	ENST00000253801.2:c.853A>G	p.Lys285Glu	p.K285E	ENST00000253801	NM_000151.3	285	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11446.1	853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCAAGGGG	NONE	.	.	PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591:SF3,hmmpanther:PTHR12591	.	.	ENSP00000253801	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000253801	Transcript	.	.	ENSG00000131482	4056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	deleterious(0.04)	.	G6PC_HUMAN	G6PC	HGNC	.	.	UPI000013CDF5	SNV	G6PC,missense_variant,p.Lys285Glu,ENST00000253801,;G6PC,3_prime_UTR_variant,,ENST00000585489,;G6PC,3_prime_UTR_variant,,ENST00000592383,;	932	140	153	SUCCESS
GH1	2688	.	GRCh37	17	61994712	61994712	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1379934275	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	379	147	369	1	ENST00000323322.5:c.611G>A	p.Arg204His	p.R204H	ENST00000323322	NM_000515.3	204	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11653.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGCGCAGG	NONE	.	.	hmmpanther:PTHR11417:SF38,hmmpanther:PTHR11417,PROSITE_patterns:PS00338,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266,Prints_domain:PR00836	.	.	ENSP00000312673	.	5/5	.	.	.	.	.	.	.	.	CM095360	5/5	PASS	ENST00000323322	Transcript	.	.	ENSG00000259384	4261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.061)	.	tolerated(0.07)	.	SOMA_HUMAN	GH1	HGNC	B1A4G6_HUMAN	.	UPI000002B7EE	SNV	GH1,missense_variant,p.Arg109His,ENST00000342364,;GH1,missense_variant,p.Arg204His,ENST00000323322,;GH1,missense_variant,p.Arg189His,ENST00000458650,;GH1,missense_variant,p.Arg164His,ENST00000351388,;CSHL1,intron_variant,,ENST00000392824,;GH1,downstream_gene_variant,,ENST00000579711,;	654	370	526	SUCCESS
ICAM1	3383	.	GRCh37	19	10385686	10385686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	68	0	ENST00000264832.3:c.313A>G	p.Thr105Ala	p.T105A	ENST00000264832	NM_000201.2	105	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS12231.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAAACCTTC	NONE	.	.	hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF5,Pfam_domain:PF03921,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000264832	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000264832	Transcript	1	.	ENSG00000090339	5344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.68)	.	ICAM1_HUMAN	ICAM1	HGNC	B4DNT6_HUMAN	.	UPI000000D91C	SNV	ICAM1,missense_variant,p.Thr105Ala,ENST00000588645,;ICAM1,missense_variant,p.Thr105Ala,ENST00000264832,;ICAM1,intron_variant,,ENST00000423829,;CTD-2369P2.5,intron_variant,,ENST00000592893,;	638	68	49	SUCCESS
ATP13A1	57130	.	GRCh37	19	19756558	19756558	+	synonymous_variant	Silent	SNP	C	C	T	rs1443375025	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	47	69	0	ENST00000357324.6:c.3402G>A	p.Leu1134=	p.L1134=	ENST00000357324	NM_020410.2	1134	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32970.2	3402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCAGGGG	NONE	.	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82,Transmembrane_helices:TMhelix	.	.	ENSP00000349877	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,synonymous_variant,p.%3D,ENST00000291503,;ATP13A1,synonymous_variant,p.%3D,ENST00000357324,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000203556,;GMIP,upstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000445806,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	3429	69	78	SUCCESS
WDR87	83889	.	GRCh37	19	38383656	38383656	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	161	286	0	ENST00000303868.5:c.2570C>T	p.Thr857Ile	p.T857I	ENST00000303868	NM_031951.3	857	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS46063.1	2570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGTTACA	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Thr896Ile,ENST00000447313,;WDR87,missense_variant,p.Thr857Ile,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	2795	286	332	SUCCESS
ECH1	1891	.	GRCh37	19	39322054	39322054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	52	0	ENST00000221418.4:c.155A>G	p.Asp52Gly	p.D52G	ENST00000221418	NM_001398.2	52	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33014.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTCTGGG	NONE	.	.	hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF43	.	.	ENSP00000221418	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000221418	Transcript	.	.	ENSG00000104823	3149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.67)	.	ECH1_HUMAN	ECH1	HGNC	M0QXS7_HUMAN	.	UPI0000071141	SNV	ECH1,missense_variant,p.Asp52Gly,ENST00000595470,;ECH1,missense_variant,p.Asp52Gly,ENST00000221418,;AC104534.3,missense_variant,p.Asp222Gly,ENST00000594769,;ECH1,missense_variant,p.Asp49Gly,ENST00000601778,;ECH1,5_prime_UTR_variant,,ENST00000595567,;ECH1,5_prime_UTR_variant,,ENST00000601094,;AC104534.3,intron_variant,,ENST00000602021,;ECH1,intron_variant,,ENST00000597205,;ECH1,downstream_gene_variant,,ENST00000602115,;HNRNPL,downstream_gene_variant,,ENST00000601449,;HNRNPL,downstream_gene_variant,,ENST00000221419,;ECH1,intron_variant,,ENST00000597805,;ECH1,3_prime_UTR_variant,,ENST00000594164,;ECH1,non_coding_transcript_exon_variant,,ENST00000600178,;ECH1,non_coding_transcript_exon_variant,,ENST00000598707,;ECH1,non_coding_transcript_exon_variant,,ENST00000601060,;ECH1,non_coding_transcript_exon_variant,,ENST00000598316,;HNRNPL,downstream_gene_variant,,ENST00000595443,;HNRNPL,downstream_gene_variant,,ENST00000595164,;ECH1,upstream_gene_variant,,ENST00000597089,;HNRNPL,downstream_gene_variant,,ENST00000595804,;HNRNPL,downstream_gene_variant,,ENST00000388749,;ECH1,upstream_gene_variant,,ENST00000596118,;HNRNPL,downstream_gene_variant,,ENST00000597731,;	388	52	52	SUCCESS
BRSK1	84446	.	GRCh37	19	55805701	55805701	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	70	0	ENST00000309383.1:c.614A>G	p.Glu205Gly	p.E205G	ENST00000309383	NM_032430.1	205	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12921.1	614	RADIA|VARSCANS	.	GGGGGAAAAAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000310649	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.728)	.	deleterious(0)	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,missense_variant,p.Glu205Gly,ENST00000585418,;BRSK1,missense_variant,p.Glu205Gly,ENST00000309383,;BRSK1,missense_variant,p.Glu221Gly,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000592539,;	891	70	38	SUCCESS
KHSRP	8570	.	GRCh37	19	6420136	6420136	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	49	160	1	ENST00000398148.3:c.495A>G	p.Glu165=	p.E165=	ENST00000398148	NM_003685.2	165	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS45936.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGTTCACC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF101,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000381216	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000398148	Transcript	.	.	ENSG00000088247	6316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUBP2_HUMAN	KHSRP	HGNC	M0QYH3_HUMAN,M0QXW7_HUMAN	.	UPI000049DE96	SNV	KHSRP,synonymous_variant,p.%3D,ENST00000595548,;KHSRP,synonymous_variant,p.%3D,ENST00000595258,;KHSRP,synonymous_variant,p.%3D,ENST00000398148,;KHSRP,intron_variant,,ENST00000599395,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,upstream_gene_variant,,ENST00000597656,;KHSRP,upstream_gene_variant,,ENST00000594745,;KHSRP,upstream_gene_variant,,ENST00000595223,;MIR3940,upstream_gene_variant,,ENST00000579148,;KHSRP,non_coding_transcript_exon_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;	588	161	128	SUCCESS
POGZ	23126	.	GRCh37	1	151414583	151414583	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	80	190	0	ENST00000271715.2:c.98A>G	p.Tyr33Cys	p.Y33C	ENST00000271715	NM_015100.3	33	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS997.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTATAATCT	NONE	.	.	.	.	.	ENSP00000271715	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000271715	Transcript	.	.	ENSG00000143442	18801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	tolerated(0.08)	.	POGZ_HUMAN	POGZ	HGNC	F5H8H4_HUMAN,E9PJY9_HUMAN,E9PIR8_HUMAN	.	UPI000035895F	SNV	POGZ,missense_variant,p.Tyr33Cys,ENST00000271715,;POGZ,missense_variant,p.Tyr33Cys,ENST00000533461,;POGZ,missense_variant,p.Tyr33Cys,ENST00000533351,;POGZ,missense_variant,p.Tyr33Cys,ENST00000392723,;POGZ,missense_variant,p.Tyr33Cys,ENST00000409503,;POGZ,missense_variant,p.Tyr33Cys,ENST00000361398,;POGZ,missense_variant,p.Tyr33Cys,ENST00000531094,;POGZ,missense_variant,p.Tyr33Cys,ENST00000368863,;POGZ,missense_variant,p.Tyr33Cys,ENST00000491586,;POGZ,missense_variant,p.Tyr33Cys,ENST00000450842,;POGZ,5_prime_UTR_variant,,ENST00000540984,;POGZ,downstream_gene_variant,,ENST00000439756,;RNY4P25,downstream_gene_variant,,ENST00000459254,;POGZ,non_coding_transcript_exon_variant,,ENST00000485040,;POGZ,non_coding_transcript_exon_variant,,ENST00000476128,;POGZ,non_coding_transcript_exon_variant,,ENST00000467287,;POGZ,non_coding_transcript_exon_variant,,ENST00000358476,;	413	190	245	SUCCESS
USH2A	7399	.	GRCh37	1	216496858	216496858	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	96	197	0	ENST00000307340.3:c.1508G>A	p.Arg503Lys	p.R503K	ENST00000307340	NM_206933.2	503	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS31025.1	1508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCTGAGG	NONE	.	.	SMART_domains:SM00136,Pfam_domain:PF00055,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS51117	.	.	ENSP00000305941	.	8/72	.	.	.	.	.	.	.	.	COSM372581	8/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.075)	.	.	1	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Arg503Lys,ENST00000366942,;USH2A,missense_variant,p.Arg503Lys,ENST00000366943,;USH2A,missense_variant,p.Arg503Lys,ENST00000307340,;	1895	198	329	SUCCESS
EPHB2	2048	.	GRCh37	1	23240064	23240064	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	36	72	0	ENST00000400191.3:c.2955+7C>T		p.X985_splice	ENST00000400191	NM_004442.6	985		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS230.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGACATTCA	NONE	.	.	.	.	.	ENSP00000363763	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,splice_region_variant,,ENST00000400191,;EPHB2,3_prime_UTR_variant,,ENST00000374627,;EPHB2,3_prime_UTR_variant,,ENST00000374632,;EPHB2,3_prime_UTR_variant,,ENST00000374630,;RP1-74M1.3,upstream_gene_variant,,ENST00000610135,;	2978	72	64	SUCCESS
COL16A1	1307	.	GRCh37	1	32162651	32162651	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	120	245	0	ENST00000373672.3:c.777G>C	p.Gln259His	p.Q259H	ENST00000373672	NM_001856.3	259	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS41297.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTCTGGGT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	8/71	.	.	.	.	.	.	.	.	.	8/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Gln259His,ENST00000373672,;COL16A1,missense_variant,p.Gln259His,ENST00000373668,;COL16A1,missense_variant,p.Gln259His,ENST00000271069,;COL16A1,upstream_gene_variant,,ENST00000373667,;COL16A1,downstream_gene_variant,,ENST00000532877,;	1294	245	269	SUCCESS
BAI2	0	.	GRCh37	1	32196897	32196897	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	69	142	0	ENST00000373658.3:c.3884T>A	p.Phe1295Tyr	p.F1295Y	ENST00000373658	NM_001703.2	1295	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS346.2	3884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGAAGCTG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41	.	.	ENSP00000362762	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.23)	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,missense_variant,p.Phe1283Tyr,ENST00000398538,;BAI2,missense_variant,p.Phe1295Tyr,ENST00000373658,;BAI2,missense_variant,p.Phe1228Tyr,ENST00000398547,;BAI2,missense_variant,p.Phe1262Tyr,ENST00000527361,;BAI2,missense_variant,p.Phe1210Tyr,ENST00000398556,;BAI2,missense_variant,p.Phe1262Tyr,ENST00000257070,;BAI2,missense_variant,p.Phe1195Tyr,ENST00000398542,;BAI2,missense_variant,p.Phe1295Tyr,ENST00000373655,;BAI2,missense_variant,p.Phe904Tyr,ENST00000440175,;BAI2,non_coding_transcript_exon_variant,,ENST00000484002,;BAI2,non_coding_transcript_exon_variant,,ENST00000465239,;BAI2,non_coding_transcript_exon_variant,,ENST00000465256,;BAI2,non_coding_transcript_exon_variant,,ENST00000530999,;BAI2,non_coding_transcript_exon_variant,,ENST00000525655,;	4226	142	147	SUCCESS
LHX8	431707	.	GRCh37	1	75602325	75602325	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1164496745	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	57	0	ENST00000294638.5:c.56C>T	p.Thr19Ile	p.T19I	ENST00000294638	NM_001001933.1	19	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS30756.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTACAGCCC	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF9	.	.	ENSP00000294638	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.01)	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,missense_variant,p.Thr9Ile,ENST00000356261,;LHX8,missense_variant,p.Thr19Ile,ENST00000294638,;RP11-510C10.2,upstream_gene_variant,,ENST00000446238,;RP11-510C10.3,upstream_gene_variant,,ENST00000427892,;LHX8,upstream_gene_variant,,ENST00000559413,;	720	57	63	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94643007	94643007	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	35	0	ENST00000260526.6:c.2905+161A>G		p.*969*	ENST00000260526	NM_004815.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS748.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAAGATACACT	NONE	.	.	.	.	.	ENSP00000260526	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODIFIER	22/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,intron_variant,,ENST00000260526,;ARHGAP29,non_coding_transcript_exon_variant,,ENST00000482481,;ARHGAP29,intron_variant,,ENST00000552844,;	.	35	15	SUCCESS
RRBP1	6238	.	GRCh37	20	17596122	17596122	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	36	85	0	ENST00000377807.2:c.2705C>T	p.Ala902Val	p.A902V	ENST00000377807	NM_001042576.1	902	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13128.1	2705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGGCTGTG	NONE	.	.	hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939	.	.	ENSP00000367038	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000377807	Transcript	.	.	ENSG00000125844	10448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	tolerated(0.13)	.	RRBP1_HUMAN	RRBP1	HGNC	F8W7S5_HUMAN	.	UPI000002B2C0	SNV	RRBP1,missense_variant,p.Ala1335Val,ENST00000246043,;RRBP1,missense_variant,p.Ala902Val,ENST00000360807,;RRBP1,missense_variant,p.Ala1335Val,ENST00000377813,;RRBP1,missense_variant,p.Ala676Val,ENST00000455029,;RRBP1,missense_variant,p.Ala902Val,ENST00000377807,;RRBP1,non_coding_transcript_exon_variant,,ENST00000470422,;RRBP1,non_coding_transcript_exon_variant,,ENST00000468428,;	3059	85	80	SUCCESS
GDF5	8200	.	GRCh37	20	34022500	34022500	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	8	0	ENST00000374369.3:c.713A>T	p.Glu238Val	p.E238V	ENST00000374369	NM_000557.2	238	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13254.1	713	MUTECT|MUSE|VARSCANS	.	GCAGCTCGGCC	NONE	.	.	hmmpanther:PTHR11848:SF44,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000363492	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374372	Transcript	1	.	ENSG00000125965	4220	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	GDF5_HUMAN	GDF5	HGNC	D3YR76_HUMAN,D3YQT0_HUMAN	.	UPI000002E33B	SNV	GDF5,missense_variant,p.Glu238Val,ENST00000374372,;GDF5,missense_variant,p.Glu238Val,ENST00000374369,;GDF5OS,missense_variant,p.Ser182Thr,ENST00000374375,;	1217	8	16	SUCCESS
RRP1B	23076	.	GRCh37	21	45092191	45092191	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	59	133	0	ENST00000340648.4:c.216A>G		p.X72_splice	ENST00000340648	NM_015056.2	72	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS33577.1	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAGAGCT	NONE	.	.	hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2,Pfam_domain:PF05997	.	.	ENSP00000339145	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000340648	Transcript	.	.	ENSG00000160208	23818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRP1B_HUMAN	RRP1B	HGNC	.	.	UPI0000198EE6	SNV	RRP1B,synonymous_variant,p.%3D,ENST00000340648,;	333	133	126	SUCCESS
SNTG2	54221	.	GRCh37	2	1079315	1079315	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773722442	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	102	0	ENST00000308624.5:c.184G>T	p.Val62Leu	p.V62L	ENST00000308624	NM_018968.3	62	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS46220.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGTGGGC	NONE	byFrequency	.	hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	.	ENSP00000311837	.	2/17	.	.	.	.	.	.	.	.	rs773722442	2/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.07)	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Val62Leu,ENST00000308624,;SNTG2,missense_variant,p.Val62Leu,ENST00000407292,;SNTG2,missense_variant,p.Val62Leu,ENST00000452177,;SNTG2,missense_variant,p.Val62Leu,ENST00000450962,;	313	102	89	SUCCESS
DPP10	57628	.	GRCh37	2	116510776	116510776	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	65	283	0	ENST00000410059.1:c.977G>T	p.Trp326Leu	p.W326L	ENST00000410059	NM_001178037.1	326	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS54388.1	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATGGGTAA	NONE	.	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	.	ENSP00000376855	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Trp330Leu,ENST00000393147,;DPP10,missense_variant,p.Trp276Leu,ENST00000409163,;DPP10,missense_variant,p.Trp319Leu,ENST00000310323,;DPP10,missense_variant,p.Trp326Leu,ENST00000410059,;	1344	283	173	SUCCESS
ARL6IP6	151188	.	GRCh37	2	153575132	153575132	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs563226993	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	12	0	ENST00000326446.5:c.-7T>G		p.*3*	ENST00000326446	NM_152522.5			0	.	A:0	.	A:0	.	G	.	protein_coding	YES	CCDS2197.1	.	RADIA|SOMATICSNIPER	.	GTGTTTCGCGC	NONE	by1000G	.	.	A:0	.	ENSP00000315357	A:0.001	1/4	.	.	.	.	.	.	.	.	rs563226993	1/4	PASS	ENST00000326446	Transcript	.	A:0.0002	ENSG00000177917	24048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	AR6P6_HUMAN	ARL6IP6	HGNC	.	.	UPI000006EA01	SNV	ARL6IP6,5_prime_UTR_variant,,ENST00000326446,;PRPF40A,upstream_gene_variant,,ENST00000410080,;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,upstream_gene_variant,,ENST00000545856,;PRPF40A,upstream_gene_variant,,ENST00000448428,;ARL6IP6,intron_variant,,ENST00000495469,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;PRPF40A,upstream_gene_variant,,ENST00000486100,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;PRPF40A,upstream_gene_variant,,ENST00000450303,;ARL6IP6,upstream_gene_variant,,ENST00000455875,;PRPF40A,upstream_gene_variant,,ENST00000489741,;PRPF40A,upstream_gene_variant,,ENST00000354363,;	705	12	13	SUCCESS
AC016757.3	0	.	GRCh37	2	239134254	239134254	+	intron_variant	Intron	SNP	G	G	A	rs750733480	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	24	0	ENST00000409070.1:c.135-114C>T		p.*45*	ENST00000409070				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AAATCGTCAGA	NONE	byCluster	.	.	.	.	ENSP00000386947	.	.	.	.	.	.	.	.	.	.	rs750733480	.	PASS	ENST00000409070	Transcript	.	.	ENSG00000186235	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC016757.3	Clone_based_vega_gene	E9PFS4_HUMAN,E7EVB8_HUMAN,E7EUL1_HUMAN	.	UPI00001D7DA2	SNV	AC016757.3,intron_variant,,ENST00000334973,;AC016757.3,intron_variant,,ENST00000409942,;AC016757.3,intron_variant,,ENST00000409070,;AC016757.3,intron_variant,,ENST00000409376,;AC016757.3,non_coding_transcript_exon_variant,,ENST00000470346,;AC016757.3,intron_variant,,ENST00000475669,;AC016757.3,downstream_gene_variant,,ENST00000466075,;	.	24	12	SUCCESS
SRD5A2	6716	.	GRCh37	2	31751181	31751181	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	29	0	ENST00000405650.1:n.1016T>C		p.*339*	ENST00000405650				0	.	.	.	.	.	G	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTATTATA	NONE	.	831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435713	Transcript	.	.	ENSG00000228563	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AL133247.2	Clone_based_vega_gene	.	.	.	SNV	AL133247.2,upstream_gene_variant,,ENST00000435713,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000233139,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000405650,;	.	29	20	SUCCESS
VRK2	7444	.	GRCh37	2	58373591	58373591	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	131	364	0	ENST00000340157.4:c.1164G>C	p.Met388Ile	p.M388I	ENST00000340157	NM_001130481.2	388	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS1859.1	1164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGAACAA	NONE	.	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100	.	.	ENSP00000408002	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000435505	Transcript	.	.	ENSG00000028116	12719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.31)	.	VRK2_HUMAN	VRK2	HGNC	.	.	UPI000013D498	SNV	VRK2,missense_variant,p.Met388Ile,ENST00000340157,;VRK2,missense_variant,p.Met365Ile,ENST00000440705,;VRK2,missense_variant,p.Met388Ile,ENST00000417641,;VRK2,missense_variant,p.Met388Ile,ENST00000412104,;VRK2,missense_variant,p.Met388Ile,ENST00000435505,;VRK2,3_prime_UTR_variant,,ENST00000432057,;	1909	364	317	SUCCESS
CTNNA2	1496	.	GRCh37	2	80085161	80085161	+	synonymous_variant	Silent	SNP	C	C	T	rs1422999639	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	49	120	0	ENST00000402739.4:c.321C>T	p.Ser107=	p.S107=	ENST00000402739	NM_001282597.1	107	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS42703.2	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCTCCGA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,synonymous_variant,p.%3D,ENST00000496558,;CTNNA2,synonymous_variant,p.%3D,ENST00000540488,;CTNNA2,synonymous_variant,p.%3D,ENST00000361291,;CTNNA2,synonymous_variant,p.%3D,ENST00000466387,;CTNNA2,synonymous_variant,p.%3D,ENST00000541047,;CTNNA2,synonymous_variant,p.%3D,ENST00000402739,;CTNNA2,synonymous_variant,p.%3D,ENST00000409971,;	1045	120	114	SUCCESS
PLCXD2	257068	.	GRCh37	3	111432938	111432938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	43	0	ENST00000477665.1:c.829G>T	p.Gly277Cys	p.G277C	ENST00000477665	NM_001185106.1	277	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS54619.1	829	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCGGGGCTTG	NONE	.	.	hmmpanther:PTHR13593:SF32,hmmpanther:PTHR13593,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000420686	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.935)	.	deleterious(0.02)	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,missense_variant,p.Gly277Cys,ENST00000477665,;PLCXD2,missense_variant,p.Gly277Cys,ENST00000393934,;PLCXD2,non_coding_transcript_exon_variant,,ENST00000472215,;	1153	44	59	SUCCESS
UPK1B	7348	.	GRCh37	3	118909118	118909118	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs113148509	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	233	156	481	0	ENST00000264234.3:c.297T>A	p.Tyr99Ter	p.Y99*	ENST00000264234	NM_006952.3	99	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS2985.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATATGCCTT	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF24,hmmpanther:PTHR19282,Pfam_domain:PF00335,Prints_domain:PR00259	.	.	ENSP00000264234	.	4/8	.	.	.	.	.	.	.	.	rs113148509	4/8	PASS	ENST00000264234	Transcript	.	.	ENSG00000114638	12578	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UPK1B_HUMAN	UPK1B	HGNC	E7ETN9_HUMAN,C9J6N2_HUMAN,C9J027_HUMAN	.	UPI000013D4E8	SNV	UPK1B,stop_gained,p.Tyr99Ter,ENST00000264234,;UPK1B,stop_gained,p.Tyr99Ter,ENST00000494855,;UPK1B,stop_gained,p.Tyr99Ter,ENST00000479520,;UPK1B,stop_gained,p.Tyr99Ter,ENST00000460625,;UPK1B,stop_gained,p.Tyr19Ter,ENST00000497685,;RP11-484M3.5,downstream_gene_variant,,ENST00000490594,;	446	481	390	SUCCESS
RHO	6010	.	GRCh37	3	129252455	129252455	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753609310	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	28	0	ENST00000296271.3:c.941G>A	p.Arg314Gln	p.R314Q	ENST00000296271	NM_000539.3	314	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3063.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGGAACT	NONE	byFrequency	.	hmmpanther:PTHR24240:SF15,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000296271	.	5/5	.	.	.	.	.	.	.	.	rs753609310,COSM4113352	5/5	PASS	ENST00000296271	Transcript	.	.	ENSG00000163914	10012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.982)	.	tolerated(0.06)	0,1	OPSD_HUMAN	RHO	HGNC	.	.	UPI0000046CE6	SNV	RHO,missense_variant,p.Arg314Gln,ENST00000296271,;	1035	28	58	SUCCESS
ZNF445	353274	.	GRCh37	3	44489484	44489484	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776283426	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	103	0	ENST00000396077.2:c.1679G>T	p.Arg560Leu	p.R560L	ENST00000396077	NM_181489.5	560	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2713.1	1679	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCGGTGC	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF48,hmmpanther:PTHR24385,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000413073	.	7/7	.	.	.	.	.	.	.	.	rs776283426	7/7	PASS	ENST00000425708	Transcript	.	.	ENSG00000185219	21018	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.25)	.	deleterious(0.02)	.	ZN445_HUMAN	ZNF445	HGNC	B7ZKX2_HUMAN	.	UPI000019AD12	SNV	ZNF445,missense_variant,p.Arg560Leu,ENST00000425708,;ZNF445,missense_variant,p.Arg560Leu,ENST00000396077,;ZNF445,downstream_gene_variant,,ENST00000460529,;	2021	103	84	SUCCESS
CXCR6	10663	.	GRCh37	3	45988614	45988614	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763564057	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	80	207	0	ENST00000304552.4:c.641T>C	p.Ile214Thr	p.I214T	ENST00000304552	NM_006564.1	214	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS2735.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCATAATCA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF66,PROSITE_profiles:PS50262	.	.	ENSP00000395704	.	1/1	.	.	.	.	.	.	.	.	rs763564057	1/1	PASS	ENST00000458629	Transcript	.	.	ENSG00000172215	16647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CXCR6_HUMAN	CXCR6	HGNC	A0N0N3_HUMAN	.	UPI0000001635	SNV	CXCR6,missense_variant,p.Ile214Thr,ENST00000304552,;CXCR6,missense_variant,p.Ile214Thr,ENST00000457814,;CXCR6,missense_variant,p.Ile214Thr,ENST00000438735,;CXCR6,missense_variant,p.Ile214Thr,ENST00000458629,;FYCO1,intron_variant,,ENST00000296137,;FYCO1,intron_variant,,ENST00000433878,;FYCO1,intron_variant,,ENST00000438446,;FYCO1,intron_variant,,ENST00000535325,;	2104	207	200	SUCCESS
UGT2B15	7366	.	GRCh37	4	69535667	69535667	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	132	400	0	ENST00000338206.5:c.670T>C	p.Trp224Arg	p.W224R	ENST00000338206	NM_001076.3	224	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS3524.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAAAAGT	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178	.	.	ENSP00000341045	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000338206	Transcript	.	.	ENSG00000196620	12546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0.01)	.	UDB15_HUMAN	UGT2B15	HGNC	.	.	UPI000045721A	SNV	UGT2B15,missense_variant,p.Trp224Arg,ENST00000338206,;	680	401	165	SUCCESS
NIPAL4	348938	.	GRCh37	5	156899886	156899886	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs536139990	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	76	0	ENST00000311946.7:c.1319A>G	p.Lys440Arg	p.K440R	ENST00000311946	NM_001099287.1	440	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS47328.1	1319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAAGAACG	NONE	.	.	hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF7	.	.	ENSP00000311687	.	6/6	.	.	.	.	.	.	.	.	rs536139990	6/6	PASS	ENST00000311946	Transcript	1	.	ENSG00000172548	28018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	NIPA4_HUMAN	NIPAL4	HGNC	.	.	UPI00001D7EEA	SNV	NIPAL4,missense_variant,p.Lys440Arg,ENST00000311946,;NIPAL4,missense_variant,p.Lys421Arg,ENST00000435489,;ADAM19,intron_variant,,ENST00000430702,;ADAM19,downstream_gene_variant,,ENST00000394020,;ADAM19,downstream_gene_variant,,ENST00000257527,;ADAM19,downstream_gene_variant,,ENST00000517374,;NIPAL4,downstream_gene_variant,,ENST00000521390,;NIPAL4,downstream_gene_variant,,ENST00000519946,;ADAM19,intron_variant,,ENST00000517951,;NIPAL4,downstream_gene_variant,,ENST00000519150,;	1435	76	74	SUCCESS
SLIT3	6586	.	GRCh37	5	168119629	168119629	+	synonymous_variant	Silent	SNP	G	G	A	rs1381899386	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	64	0	ENST00000519560.1:c.3159C>T	p.Pro1053=	p.P1053=	ENST00000519560	NM_003062.3	1053	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4369.1	3159	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGGGGAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000430333	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518092,;	3579	64	78	SUCCESS
SERPINB6	5269	.	GRCh37	6	2959566	2959566	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs770912151	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	60	118	0	ENST00000335686.5:c.1A>G	p.Met1?	p.M1?	ENST00000335686	NM_001271824.1	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS4479.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCATGATGG	NONE	.	.	hmmpanther:PTHR11461:SF69,hmmpanther:PTHR11461,Superfamily_domains:SSF56574	.	.	ENSP00000369891	.	1/6	.	.	.	.	.	.	.	.	rs770912151	1/6	PASS	ENST00000380520	Transcript	.	.	ENSG00000124570	8950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	deleterious(0)	.	SPB6_HUMAN	SERPINB6	HGNC	Q8IXH2_HUMAN	.	UPI000013FEA1	SNV	SERPINB6,start_lost,p.Met1?,ENST00000335686,;SERPINB6,start_lost,p.Met1?,ENST00000380524,;SERPINB6,start_lost,p.Met1?,ENST00000380546,;SERPINB6,start_lost,p.Met1?,ENST00000380520,;SERPINB6,start_lost,p.Met1?,ENST00000380539,;SERPINB6,start_lost,p.Met1?,ENST00000380529,;	1996	118	144	SUCCESS
BPHL	670	.	GRCh37	6	3119733	3119733	+	intron_variant	Intron	SNP	T	T	A	rs374716930	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	59	197	0	ENST00000380379.5:c.107+652T>A		p.*36*	ENST00000380379	NM_004332.2			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS4483.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTCCCCC	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000369739	.	.	.	.	.	.	.	.	.	.	rs374716930,rs771725804	.	PASS	ENST00000380379	Transcript	.	.	ENSG00000137274	1094	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPHL_HUMAN	BPHL	HGNC	.	.	UPI000000DC96	SNV	BPHL,missense_variant,p.Ser15Thr,ENST00000380368,;BPHL,missense_variant,p.Ser15Thr,ENST00000380375,;BPHL,missense_variant,p.Ser15Thr,ENST00000434640,;BPHL,intron_variant,,ENST00000380379,;RIPK1,downstream_gene_variant,,ENST00000259808,;RIPK1,downstream_gene_variant,,ENST00000380409,;RIPK1,downstream_gene_variant,,ENST00000541791,;BPHL,3_prime_UTR_variant,,ENST00000424847,;BPHL,3_prime_UTR_variant,,ENST00000430655,;BPHL,intron_variant,,ENST00000479273,;BPHL,intron_variant,,ENST00000490918,;BPHL,intron_variant,,ENST00000433912,;	.	197	189	SUCCESS
COL12A1	1303	.	GRCh37	6	75866190	75866190	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	426	313	765	2	ENST00000322507.8:c.3033A>G	p.Thr1011=	p.T1011=	ENST00000322507	NM_004370.5	1011	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS43482.1	3033	RADIA|VARSCANS	.	CTCATTGTGTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	15/66	.	.	.	.	.	.	.	.	.	15/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000419671,;	3343	767	740	SUCCESS
FAM46A	0	.	GRCh37	6	82462171	82462171	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	94	0	ENST00000320172.6:c.-61C>T		p.*21*	ENST00000320172	NM_017633.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34489.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGGAGCGC	NONE	.	.	.	.	.	ENSP00000318298	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000320172	Transcript	.	.	ENSG00000112773	18345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46A_HUMAN	FAM46A	HGNC	.	.	UPI000006E9BA	SNV	FAM46A,5_prime_UTR_variant,,ENST00000369754,;FAM46A,5_prime_UTR_variant,,ENST00000320172,;FAM46A,intron_variant,,ENST00000369756,;FAM46A,upstream_gene_variant,,ENST00000423467,;FAM46A,upstream_gene_variant,,ENST00000412306,;	255	94	81	SUCCESS
LAMB4	22798	.	GRCh37	7	107688358	107688358	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	148	331	0	ENST00000205386.4:c.4321A>G	p.Asn1441Asp	p.N1441D	ENST00000205386		1441	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS34732.1	4321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATTTTTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000373433	.	28/34	.	.	.	.	.	.	.	.	.	28/34	PASS	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	tolerated(0.06)	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	SNV	LAMB4,missense_variant,p.Asn1441Asp,ENST00000388781,;LAMB4,missense_variant,p.Asn467Asp,ENST00000422975,;LAMB4,missense_variant,p.Asn1441Asp,ENST00000388780,;LAMB4,missense_variant,p.Asn1441Asp,ENST00000205386,;LAMB4,upstream_gene_variant,,ENST00000475572,;	4405	331	329	SUCCESS
NRCAM	4897	.	GRCh37	7	107866734	107866734	+	synonymous_variant	Silent	SNP	G	G	A	rs758654630	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	55	0	ENST00000379028.3:c.639C>T	p.Arg213=	p.R213=	ENST00000379028		213	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47686.1	639	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTTCGCGGGT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000368314	.	9/33	.	.	.	.	.	.	.	.	rs758654630	9/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,synonymous_variant,p.%3D,ENST00000413765,;NRCAM,synonymous_variant,p.%3D,ENST00000379022,;NRCAM,synonymous_variant,p.%3D,ENST00000379024,;NRCAM,synonymous_variant,p.%3D,ENST00000351718,;NRCAM,synonymous_variant,p.%3D,ENST00000417701,;NRCAM,synonymous_variant,p.%3D,ENST00000379028,;NRCAM,synonymous_variant,p.%3D,ENST00000425651,;	1110	55	41	SUCCESS
KMT2C	58508	.	GRCh37	7	151873592	151873592	+	synonymous_variant	Silent	SNP	A	A	C	rs760077828	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	70	188	0	ENST00000262189.6:c.8946T>G	p.Val2982=	p.V2982=	ENST00000262189	NM_170606.2	2982	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS5931.1	8946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAAACATG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	38/59	.	.	.	.	.	.	.	.	rs760077828	38/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,synonymous_variant,p.%3D,ENST00000355193,;KMT2C,synonymous_variant,p.%3D,ENST00000360104,;KMT2C,synonymous_variant,p.%3D,ENST00000262189,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	9165	188	175	SUCCESS
ISPD	0	.	GRCh37	7	16298092	16298092	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs199890239	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	85	0	ENST00000407010.2:c.1042T>A	p.Phe348Ile	p.F348I	ENST00000407010	NM_001101426.3	348	Ttt/Att	0	.	T:0	.	T:0	.	T	F/I	protein_coding	YES	.	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAAATCAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19136,hmmpanther:PTHR19136:SF79	T:0	.	ENSP00000385478	T:0.003	8/10	.	.	.	.	.	.	.	.	rs199890239	8/10	PASS	ENST00000407010	Transcript	.	T:0.0006	ENSG00000214960	37276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	T:0	tolerated(0.26)	.	ISPD_HUMAN	ISPD	HGNC	.	.	UPI00015CFC06	SNV	ISPD,missense_variant,p.Phe348Ile,ENST00000407010,;ISPD,missense_variant,p.Phe298Ile,ENST00000399310,;ISPD-AS1,intron_variant,,ENST00000438573,;ISPD-AS1,intron_variant,,ENST00000457112,;	1042	85	95	SUCCESS
PDGFA	5154	.	GRCh37	7	550578	550578	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	56	88	0	ENST00000354513.5:c.321G>A	p.Arg107=	p.R107=	ENST00000354513	NM_002607.5	107	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34578.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTCCGAGG	NONE	.	.	Superfamily_domains:SSF57501,SMART_domains:SM00141,Gene3D:2.10.90.10,Pfam_domain:PF00341,hmmpanther:PTHR11633,hmmpanther:PTHR11633:SF3,PROSITE_profiles:PS50278	.	.	ENSP00000346508	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000354513	Transcript	.	.	ENSG00000197461	8799	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDGFA_HUMAN	PDGFA	HGNC	Q9UGN0_HUMAN	.	UPI00001314A2	SNV	PDGFA,synonymous_variant,p.%3D,ENST00000354513,;PDGFA,synonymous_variant,p.%3D,ENST00000402802,;PDGFA,synonymous_variant,p.%3D,ENST00000400761,;PDGFA,downstream_gene_variant,,ENST00000405692,;PDGFA,downstream_gene_variant,,ENST00000426681,;PDGFA,non_coding_transcript_exon_variant,,ENST00000482462,;	714	88	125	SUCCESS
PCLO	27445	.	GRCh37	7	82464992	82464992	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	77	143	0	ENST00000333891.9:c.14240A>G	p.Gln4747Arg	p.Q4747R	ENST00000333891	NM_033026.5	4747	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS47630.1	14240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTGGACA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000334319	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Gln4747Arg,ENST00000333891,;PCLO,missense_variant,p.Gln4747Arg,ENST00000423517,;PCLO,intron_variant,,ENST00000426442,;PCLO,downstream_gene_variant,,ENST00000413807,;	14578	143	162	SUCCESS
ZHX2	22882	.	GRCh37	8	123965265	123965265	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	29	0	ENST00000314393.4:c.1515C>A	p.Ser505=	p.S505=	ENST00000314393	NM_014943.3	505	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6336.1	1515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCCTTGC	NONE	.	.	hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5	.	.	ENSP00000314709	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314393	Transcript	.	.	ENSG00000178764	18513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,synonymous_variant,p.%3D,ENST00000314393,;ZHX2,downstream_gene_variant,,ENST00000534247,;	2350	29	37	SUCCESS
YTHDF3	253943	.	GRCh37	8	64099147	64099147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	63	166	0	ENST00000539294.1:c.575G>T	p.Gly192Val	p.G192V	ENST00000539294	NM_001277817.1	192	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGACTGA	NONE	.	.	hmmpanther:PTHR12357:SF9,hmmpanther:PTHR12357	.	.	ENSP00000473496	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000539294	Transcript	.	.	ENSG00000185728	26465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	.	YTHDF3	HGNC	R4GN55_HUMAN,R4GMX0_HUMAN	.	UPI0002C8850B	SNV	YTHDF3,missense_variant,p.Gly3Val,ENST00000542911,;YTHDF3,missense_variant,p.Gly192Val,ENST00000539294,;YTHDF3,intron_variant,,ENST00000517371,;YTHDF3,upstream_gene_variant,,ENST00000518373,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000520640,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000521674,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000517303,;YTHDF3,downstream_gene_variant,,ENST00000523056,;YTHDF3,downstream_gene_variant,,ENST00000523455,;YTHDF3,downstream_gene_variant,,ENST00000518438,;YTHDF3,downstream_gene_variant,,ENST00000518763,;YTHDF3,downstream_gene_variant,,ENST00000517375,;YTHDF3,downstream_gene_variant,,ENST00000521547,;YTHDF3,3_prime_UTR_variant,,ENST00000524135,;	891	166	154	SUCCESS
OR1J2	26740	.	GRCh37	9	125273978	125273978	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	60	155	1	ENST00000335302.5:c.898G>A	p.Ala300Thr	p.A300T	ENST00000335302	NM_054107.1	300	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS35121.1	898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGCCCTT	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF324,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335575	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335302	Transcript	.	.	ENSG00000197233	8209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.45)	.	deleterious_low_confidence(0.01)	.	OR1J2_HUMAN	OR1J2	HGNC	.	.	UPI0000041CF3	SNV	OR1J2,missense_variant,p.Ala300Thr,ENST00000335302,;	898	156	139	SUCCESS
GPSM1	26086	.	GRCh37	9	139234260	139234260	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	73	0	ENST00000440944.1:c.1071G>A	p.Gln357=	p.Q357=	ENST00000440944	NM_001145638.2	357	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS48055.1	1071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGATCTC	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000392828	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,synonymous_variant,p.%3D,ENST00000440944,;GPSM1,synonymous_variant,p.%3D,ENST00000354753,;GPSM1,synonymous_variant,p.%3D,ENST00000392945,;	1291	73	87	SUCCESS
RABL6	55684	.	GRCh37	9	139732077	139732077	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	25	0	ENST00000311502.7:c.1089G>A	p.Gly363=	p.G363=	ENST00000311502		363	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55352.1	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGACGTC	NONE	.	.	hmmpanther:PTHR14932	.	.	ENSP00000360727	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000371663	Transcript	.	.	ENSG00000196642	24703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RABL6_HUMAN	RABL6	HGNC	.	.	UPI0000E0C208	SNV	RABL6,synonymous_variant,p.%3D,ENST00000371663,;RABL6,synonymous_variant,p.%3D,ENST00000435930,;RABL6,synonymous_variant,p.%3D,ENST00000432842,;RABL6,synonymous_variant,p.%3D,ENST00000371675,;RABL6,synonymous_variant,p.%3D,ENST00000311502,;RABL6,intron_variant,,ENST00000357466,;RABL6,downstream_gene_variant,,ENST00000425121,;RABL6,downstream_gene_variant,,ENST00000436380,;RABL6,downstream_gene_variant,,ENST00000371671,;RABL6,downstream_gene_variant,,ENST00000461992,;RABL6,downstream_gene_variant,,ENST00000466096,;RABL6,synonymous_variant,p.%3D,ENST00000484471,;RABL6,synonymous_variant,p.%3D,ENST00000464941,;	1367	25	69	SUCCESS
MAN1B1	11253	.	GRCh37	9	140001761	140001761	+	synonymous_variant	Silent	SNP	C	C	T	rs754107444	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	74	140	0	ENST00000371589.4:c.1626C>T	p.Pro542=	p.P542=	ENST00000371589	NM_016219.4	542	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7029.1	1626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGCCAG	NONE	.	.	hmmpanther:PTHR11742:SF7,hmmpanther:PTHR11742,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000360645	.	11/13	.	.	.	.	.	.	.	.	rs754107444,COSM3675298	11/13	PASS	ENST00000371589	Transcript	.	.	ENSG00000177239	6823	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MA1B1_HUMAN	MAN1B1	HGNC	Q8N2P4_HUMAN,B3KQC5_HUMAN	.	UPI0000169E6E	SNV	MAN1B1,synonymous_variant,p.%3D,ENST00000475449,;MAN1B1,synonymous_variant,p.%3D,ENST00000474902,;MAN1B1,synonymous_variant,p.%3D,ENST00000535144,;MAN1B1,synonymous_variant,p.%3D,ENST00000371589,;MAN1B1,upstream_gene_variant,,ENST00000550113,;DPP7,downstream_gene_variant,,ENST00000463619,;DPP7,downstream_gene_variant,,ENST00000371579,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000540391,;MAN1B1,missense_variant,p.Pro539Leu,ENST00000544448,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000536268,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000535028,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000536349,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000480100,;DPP7,downstream_gene_variant,,ENST00000472306,;DPP7,downstream_gene_variant,,ENST00000483783,;DPP7,downstream_gene_variant,,ENST00000473532,;DPP7,downstream_gene_variant,,ENST00000485456,;DPP7,downstream_gene_variant,,ENST00000470766,;	1699	140	230	SUCCESS
TRPM6	140803	.	GRCh37	9	77416900	77416900	+	synonymous_variant	Silent	SNP	C	C	T	rs372508531	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	74	153	0	ENST00000360774.1:c.1923G>A	p.Ala641=	p.A641=	ENST00000360774	NM_017662.4	641	gcG/gcA	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS6647.1	1923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACGCAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	T:0.0001	ENSP00000354006	.	16/39	.	.	.	.	.	.	.	.	rs372508531	16/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,synonymous_variant,p.%3D,ENST00000449912,;TRPM6,synonymous_variant,p.%3D,ENST00000451710,;TRPM6,synonymous_variant,p.%3D,ENST00000361255,;TRPM6,synonymous_variant,p.%3D,ENST00000360774,;TRPM6,synonymous_variant,p.%3D,ENST00000376864,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;RN7SKP47,downstream_gene_variant,,ENST00000365347,;RP11-174B4.2,upstream_gene_variant,,ENST00000605848,;	2161	153	175	SUCCESS
PTCH1	5727	.	GRCh37	9	98268744	98268744	+	synonymous_variant	Silent	SNP	C	C	A	rs756224406	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	78	155	0	ENST00000331920.6:c.339G>T	p.Ala113=	p.A113=	ENST00000331920	NM_000264.3	113	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6714.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCGCGAA	NONE	.	.	TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796:SF61,hmmpanther:PTHR10796	.	.	ENSP00000332353	.	2/24	.	.	.	.	.	.	.	.	rs756224406	2/24	PASS	ENST00000331920	Transcript	.	.	ENSG00000185920	9585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTC1_HUMAN	PTCH1	HGNC	Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN	.	UPI00001AFF9C	SNV	PTCH1,synonymous_variant,p.%3D,ENST00000331920,;PTCH1,synonymous_variant,p.%3D,ENST00000430669,;PTCH1,synonymous_variant,p.%3D,ENST00000468211,;PTCH1,synonymous_variant,p.%3D,ENST00000375274,;PTCH1,synonymous_variant,p.%3D,ENST00000437951,;PTCH1,5_prime_UTR_variant,,ENST00000547672,;PTCH1,5_prime_UTR_variant,,ENST00000551630,;PTCH1,5_prime_UTR_variant,,ENST00000418258,;PTCH1,5_prime_UTR_variant,,ENST00000553011,;PTCH1,5_prime_UTR_variant,,ENST00000421141,;PTCH1,5_prime_UTR_variant,,ENST00000551845,;PTCH1,5_prime_UTR_variant,,ENST00000546820,;PTCH1,5_prime_UTR_variant,,ENST00000548420,;PTCH1,5_prime_UTR_variant,,ENST00000429896,;RP11-435O5.5,non_coding_transcript_exon_variant,,ENST00000604104,;PTCH1,non_coding_transcript_exon_variant,,ENST00000548945,;PTCH1,intron_variant,,ENST00000551425,;PTCH1,upstream_gene_variant,,ENST00000548379,;PTCH1,synonymous_variant,p.%3D,ENST00000375290,;PTCH1,5_prime_UTR_variant,,ENST00000550914,;PTCH1,intron_variant,,ENST00000551623,;	639	155	172	SUCCESS
AFF2	2334	.	GRCh37	X	147744245	147744245	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	271	323	1	ENST00000370460.2:c.997T>A	p.Ser333Thr	p.S333T	ENST00000370460	NM_002025.3	333	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS14684.1	997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTCAAAG	NONE	.	.	hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.53)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Ser333Thr,ENST00000370460,;AFF2,missense_variant,p.Ser329Thr,ENST00000342251,;AFF2,missense_variant,p.Ser329Thr,ENST00000370457,;AFF2,missense_variant,p.Ser329Thr,ENST00000370458,;	1476	324	289	SUCCESS
MAP3K15	389840	.	GRCh37	X	19410152	19410152	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760272533	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	39	33	0	ENST00000338883.4:c.2399C>T	p.Ala800Val	p.A800V	ENST00000338883	NM_001001671.3	800	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	.	2399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGCAAGA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000345629	.	18/29	.	.	.	.	.	.	.	.	rs760272533	18/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	deleterious(0.04)	.	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,missense_variant,p.Ala632Val,ENST00000469203,;MAP3K15,missense_variant,p.Ala235Val,ENST00000359173,;MAP3K15,missense_variant,p.Ala800Val,ENST00000338883,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	2399	33	44	SUCCESS
EIF2S3	1968	.	GRCh37	X	24084190	24084190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	297	426	0	ENST00000253039.4:c.848T>C	p.Ile283Thr	p.I283T	ENST00000253039	NM_001415.3	283	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS14210.1	848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTATCCTAA	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF94,Pfam_domain:PF03144,Gene3D:2.40.30.10,Superfamily_domains:SSF50447	.	.	ENSP00000253039	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000253039	Transcript	.	.	ENSG00000130741	3267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	IF2G_HUMAN	EIF2S3	HGNC	.	.	UPI0000163BD6	SNV	EIF2S3,missense_variant,p.Ile283Thr,ENST00000253039,;EIF2S3,downstream_gene_variant,,ENST00000487075,;	1101	426	332	SUCCESS
XG	7499	.	GRCh37	X	2729446	2729446	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	166	200	0	ENST00000381174.5:c.479C>G	p.Ala160Gly	p.A160G	ENST00000381174		160	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS48073.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCAGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF4,Pfam_domain:PF12301	.	.	ENSP00000411004	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000419513	Transcript	.	.	ENSG00000124343	12806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0.02)	.	XG_HUMAN	XG	HGNC	Q496P1_HUMAN	.	UPI0000D61D1F	SNV	XG,missense_variant,p.Ala161Gly,ENST00000426774,;XG,missense_variant,p.Ala160Gly,ENST00000381174,;XG,missense_variant,p.Ala175Gly,ENST00000419513,;XG,missense_variant,p.Ala138Gly,ENST00000509484,;snoU13,upstream_gene_variant,,ENST00000516039,;XG,downstream_gene_variant,,ENST00000519244,;	747	200	182	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4925278	4925278	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	382	543	0	ENST00000400457.2:c.351C>T	p.Cys117=	p.C117=	ENST00000400457	NM_032973.2	117	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS14777.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCTTTTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08266	.	.	ENSP00000355419	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,synonymous_variant,p.%3D,ENST00000215473,;PCDH11Y,synonymous_variant,p.%3D,ENST00000333703,;PCDH11Y,synonymous_variant,p.%3D,ENST00000400457,;PCDH11Y,synonymous_variant,p.%3D,ENST00000362095,;	1148	543	463	SUCCESS
TIAL1	7073	.	GRCh37	10	121337034	121337034	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	58	145	0	ENST00000436547.2:c.666del	p.Arg222SerfsTer13	p.R222Sfs*13	ENST00000436547	NM_003252.3	222	agA/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS31295.1	717	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCTGTCTCAT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF250,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000358089	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000369093	Transcript	.	.	ENSG00000151923	11804	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIAR_HUMAN	TIAL1	HGNC	.	.	UPI00004BEBE5	deletion	TIAL1,frameshift_variant,p.Arg222SerfsTer13,ENST00000436547,;TIAL1,frameshift_variant,p.Arg239SerfsTer13,ENST00000369093,;TIAL1,frameshift_variant,p.Arg99SerfsTer13,ENST00000369092,;TIAL1,downstream_gene_variant,,ENST00000412524,;TIAL1,downstream_gene_variant,,ENST00000369086,;TIAL1,non_coding_transcript_exon_variant,,ENST00000495821,;TIAL1,downstream_gene_variant,,ENST00000470635,;TIAL1,upstream_gene_variant,,ENST00000463089,;TIAL1,3_prime_UTR_variant,,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,non_coding_transcript_exon_variant,,ENST00000369087,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;	747	145	203	SUCCESS
ADAM12	8038	.	GRCh37	10	127708372	127708372	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	58	0	ENST00000368679.4:c.2561del	p.Pro854LeufsTer85	p.P854Lfs*85	ENST00000368679	NM_003474.4	854	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7653.1	2561	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTGAGGGGGG	NONE	.	.	hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905	.	.	ENSP00000357668	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	deletion	ADAM12,frameshift_variant,p.Pro854LeufsTer85,ENST00000368679,;	2871	58	99	SUCCESS
TTC40	0	.	GRCh37	10	134660574	134660574	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	42	0	ENST00000368586.5:c.6129A>T	p.Ser2043=	p.S2043=	ENST00000368586	NM_001200049.2	2043	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58101.1	6129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTGACGC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	43/58	.	.	.	.	.	.	.	.	.	43/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,synonymous_variant,p.%3D,ENST00000263170,;TTC40,synonymous_variant,p.%3D,ENST00000368586,;	6230	42	30	SUCCESS
MRC1	4360	.	GRCh37	10	18145281	18145281	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	76	109	0	ENST00000239761.3:c.1518A>T	p.Lys506Asn	p.K506N	ENST00000239761	NM_002438.3	506	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7123.1	1518	RADIA|VARSCANS	.	AGGAAAGTGAG	NONE	.	.	hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF55,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000239761	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000239761	Transcript	.	.	ENSG00000120586	7228	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.69)	.	deleterious(0.02)	.	MRC1_HUMAN	MRC1	HGNC	B4DLK9_HUMAN	.	UPI000012EB9A	SNV	MRC1,missense_variant,p.Lys506Asn,ENST00000239761,;	1621	109	82	SUCCESS
PRKG1	5592	.	GRCh37	10	54048601	54048601	+	synonymous_variant	Silent	SNP	C	C	T	rs541150590	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	58	210	0	ENST00000373985.1:c.1744C>T	p.Leu582=	p.L582=	ENST00000373985	NM_001098512.2	582	Cta/Tta	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS7244.1	1825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACTATGC	NONE	by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF56112	T:0	.	ENSP00000363092	T:0	15/18	.	.	.	.	.	.	.	.	rs541150590,COSM1675242,COSM1675243	15/18	PASS	ENST00000373980	Transcript	1	T:0.0002	ENSG00000185532	9414	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0.001	.	0,1,1	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,synonymous_variant,p.%3D,ENST00000401604,;PRKG1,synonymous_variant,p.%3D,ENST00000373975,;PRKG1,synonymous_variant,p.%3D,ENST00000373985,;PRKG1,synonymous_variant,p.%3D,ENST00000373980,;PRKG1-AS1,intron_variant,,ENST00000452247,;PRKG1-AS1,intron_variant,,ENST00000426785,;	2242	210	123	SUCCESS
SLC16A9	220963	.	GRCh37	10	61413875	61413875	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	78	258	0	ENST00000395347.1:c.909C>A	p.Asn303Lys	p.N303K	ENST00000395347		303	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS7256.1	909	RADIA|SOMATICSNIPER|VARSCANS	.	ACTTTGTTTTT	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850	.	.	ENSP00000378757	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000395348	Transcript	.	.	ENSG00000165449	23520	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	MOT9_HUMAN	SLC16A9	HGNC	.	.	UPI000004D33D	SNV	SLC16A9,missense_variant,p.Asn303Lys,ENST00000395347,;SLC16A9,missense_variant,p.Asn303Lys,ENST00000395348,;	1546	258	180	SUCCESS
HK1	3098	.	GRCh37	10	71136836	71136836	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	117	0	ENST00000359426.6:c.1022C>T	p.Ala341Val	p.A341V	ENST00000359426	NM_000188.2	341	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7289.1	1034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCCATCG	NONE	.	.	hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF10,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067	.	.	ENSP00000384774	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000404387	Transcript	1	.	ENSG00000156515	4922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0.05)	.	HXK1_HUMAN	HK1	HGNC	P78542_HUMAN,B1AR61_HUMAN	.	UPI000013E945	SNV	HK1,missense_variant,p.Ala340Val,ENST00000298649,;HK1,missense_variant,p.Ala376Val,ENST00000448642,;HK1,missense_variant,p.Ala341Val,ENST00000359426,;HK1,missense_variant,p.Ala345Val,ENST00000404387,;HK1,missense_variant,p.Ala329Val,ENST00000360289,;HK1,non_coding_transcript_exon_variant,,ENST00000494253,;HK1,downstream_gene_variant,,ENST00000493591,;	1034	117	87	SUCCESS
MRVI1	0	.	GRCh37	11	10651167	10651167	+	synonymous_variant	Silent	SNP	C	C	A	rs764163534	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	138	300	0	ENST00000423302.2:c.492G>T	p.Leu164=	p.L164=	ENST00000423302	NM_130385.3	164	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55746.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15352:SF2,hmmpanther:PTHR15352	.	.	ENSP00000412130	.	5/21	.	.	.	.	.	.	.	.	rs764163534	5/21	PASS	ENST00000423302	Transcript	.	.	ENSG00000072952	7237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRVI1_HUMAN	MRVI1	HGNC	H0YI08_HUMAN,E9PRG4_HUMAN	.	UPI0001F78343	SNV	MRVI1,synonymous_variant,p.%3D,ENST00000436272,;MRVI1,synonymous_variant,p.%3D,ENST00000547195,;MRVI1,synonymous_variant,p.%3D,ENST00000423302,;MRVI1,synonymous_variant,p.%3D,ENST00000531107,;MRVI1,synonymous_variant,p.%3D,ENST00000527509,;MRVI1,synonymous_variant,p.%3D,ENST00000552103,;MRVI1,synonymous_variant,p.%3D,ENST00000541483,;MRVI1,synonymous_variant,p.%3D,ENST00000421747,;MRVI1,5_prime_UTR_variant,,ENST00000424001,;MRVI1,5_prime_UTR_variant,,ENST00000545852,;MRVI1,5_prime_UTR_variant,,ENST00000558540,;MRVI1,5_prime_UTR_variant,,ENST00000534266,;MRVI1,downstream_gene_variant,,ENST00000529547,;MRVI1,downstream_gene_variant,,ENST00000531786,;MRVI1,downstream_gene_variant,,ENST00000532037,;MRVI1,synonymous_variant,p.%3D,ENST00000526414,;MRVI1,synonymous_variant,p.%3D,ENST00000533631,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;MRVI1,downstream_gene_variant,,ENST00000529068,;	642	300	294	SUCCESS
ST14	6768	.	GRCh37	11	130058534	130058534	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	49	0	ENST00000278742.5:c.351C>T	p.Ala117=	p.A117=	ENST00000278742	NM_021978.3	117	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8487.1	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCAGCAA	NONE	.	.	Superfamily_domains:0047452,PIRSF_domain:PIRSF036370,Pfam_domain:PF01390,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,PROSITE_profiles:PS50024	.	.	ENSP00000278742	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000278742	Transcript	.	.	ENSG00000149418	11344	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST14_HUMAN	ST14	HGNC	Q8WVC1_HUMAN	.	UPI00000012E9	SNV	ST14,synonymous_variant,p.%3D,ENST00000278742,;ST14,upstream_gene_variant,,ENST00000530376,;ST14,upstream_gene_variant,,ENST00000524718,;ST14,upstream_gene_variant,,ENST00000530532,;	769	49	74	SUCCESS
LRP4-AS1	100507401	.	GRCh37	11	46895257	46895257	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	17	25	0	ENST00000502049.2:n.814G>A		p.*272*	ENST00000502049				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31478.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATAGAGACC	NONE	.	.	.	.	.	ENSP00000367888	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODIFIER	28/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,intron_variant,,ENST00000378623,;LRP4-AS1,non_coding_transcript_exon_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000527656,;	.	25	25	SUCCESS
LRP4	4038	.	GRCh37	11	46896621	46896621	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs891590824	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	34	0	ENST00000378623.1:c.3959G>A	p.Cys1320Tyr	p.C1320Y	ENST00000378623	NM_002334.3	1320	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31478.1	3959	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGAGCAGCCG	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000367888	.	28/38	.	.	.	.	.	.	.	.	.	28/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Cys1320Tyr,ENST00000378623,;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;	4202	34	26	SUCCESS
OR4C3	256144	.	GRCh37	11	48346884	48346884	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	629	129	932	0	ENST00000319856.4:c.392T>G	p.Phe131Cys	p.F131C	ENST00000319856	NM_001004702.1	131	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS31489.1	392	RADIA|MUTECT|MUSE	.	TCATTTTTTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000321419	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319856	Transcript	.	.	ENSG00000176547	14697	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	OR4C3_HUMAN	OR4C3	HGNC	.	.	UPI0000061EA2	SNV	OR4C3,missense_variant,p.Phe131Cys,ENST00000319856,;	413	933	758	SUCCESS
OR4A5	81318	.	GRCh37	11	51412172	51412172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	172	446	0	ENST00000319760.6:c.224T>C	p.Ile75Thr	p.I75T	ENST00000319760	NM_001005272.3	75	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31497.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAATGGTA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF299,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000367664	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319760	Transcript	.	.	ENSG00000221840	15162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.09)	.	OR4A5_HUMAN	OR4A5	HGNC	.	.	UPI0000041D58	SNV	OR4A5,missense_variant,p.Ile75Thr,ENST00000319760,;	277	446	387	SUCCESS
OR51V1	283111	.	GRCh37	11	5221902	5221902	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	151	0	ENST00000321255.1:c.29C>T	p.Ser10Leu	p.S10L	ENST00000321255	NM_001004760.2	10	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS31375.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTGAAGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR26450:SF67,hmmpanther:PTHR26450	.	.	ENSP00000321729	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321255	Transcript	.	.	ENSG00000176742	19597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	tolerated(0.2)	.	O51V1_HUMAN	OR51V1	HGNC	.	.	UPI0000140ADA	SNV	OR51V1,missense_variant,p.Ser10Leu,ENST00000321255,;AC104389.16,upstream_gene_variant,,ENST00000418080,;	29	151	111	SUCCESS
OR5B17	219965	.	GRCh37	11	58125852	58125852	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	131	0	ENST00000357377.3:c.691G>C	p.Gly231Arg	p.G231R	ENST00000357377	NM_001005489.1	231	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS31548.1	691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCCCTTAC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,PROSITE_profiles:PS50262	.	.	ENSP00000349945	.	1/1	.	.	.	.	.	.	.	.	COSM1237299	1/1	PASS	ENST00000357377	Transcript	.	.	ENSG00000197786	15267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.938)	.	deleterious_low_confidence(0.02)	1	OR5BH_HUMAN	OR5B17	HGNC	.	.	UPI0000041DFA	SNV	OR5B17,missense_variant,p.Gly231Arg,ENST00000357377,;AP000435.3,upstream_gene_variant,,ENST00000528539,;	691	131	82	SUCCESS
TRIM3	10612	.	GRCh37	11	6477958	6477958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	44	0	ENST00000345851.3:c.998G>T	p.Arg333Leu	p.R333L	ENST00000345851	NM_033278.3	333	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7764.1	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGCAGG	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF1,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000433102	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000525074	Transcript	.	.	ENSG00000110171	10064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0.01)	.	TRIM3_HUMAN	TRIM3	HGNC	E9PMW5_HUMAN,E9PMK8_HUMAN,D3DQT3_HUMAN,B3KV53_HUMAN	.	UPI000013C8BA	SNV	TRIM3,missense_variant,p.Arg333Leu,ENST00000345851,;TRIM3,missense_variant,p.Arg255Leu,ENST00000537602,;TRIM3,missense_variant,p.Arg333Leu,ENST00000359518,;TRIM3,missense_variant,p.Arg333Leu,ENST00000525074,;TRIM3,missense_variant,p.Arg214Leu,ENST00000536344,;TRIM3,downstream_gene_variant,,ENST00000528227,;TRIM3,downstream_gene_variant,,ENST00000529529,;TRIM3,non_coding_transcript_exon_variant,,ENST00000529058,;TRIM3,downstream_gene_variant,,ENST00000528932,;TRIM3,upstream_gene_variant,,ENST00000527237,;TRIM3,upstream_gene_variant,,ENST00000526845,;TRIM3,upstream_gene_variant,,ENST00000533309,;TRIM3,upstream_gene_variant,,ENST00000532542,;	1393	44	56	SUCCESS
TYR	7299	.	GRCh37	11	88911272	88911272	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	100	0	ENST00000263321.5:c.151G>A	p.Gly51Ser	p.G51S	ENST00000263321	NM_000372.4	51	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS8284.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGGCAGA	NONE	.	.	hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16	.	.	ENSP00000263321	.	1/5	.	.	.	.	.	.	.	.	HM070075,COSM691155	1/5	PASS	ENST00000263321	Transcript	.	.	ENSG00000077498	12442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.259)	.	deleterious(0.02)	0,1	TYRO_HUMAN	TYR	HGNC	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN	.	UPI000004441A	SNV	TYR,missense_variant,p.Gly51Ser,ENST00000263321,;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;	653	100	90	SUCCESS
ANO4	121601	.	GRCh37	12	101491695	101491695	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	101	287	0	ENST00000392977.3:c.1978T>A	p.Trp660Arg	p.W660R	ENST00000392977	NM_001286615.1	660	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS31884.1	1873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGGAAT	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547	.	.	ENSP00000376705	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Trp180Arg,ENST00000550015,;ANO4,missense_variant,p.Trp180Arg,ENST00000299222,;ANO4,missense_variant,p.Trp660Arg,ENST00000392977,;ANO4,missense_variant,p.Trp625Arg,ENST00000392979,;	2234	287	209	SUCCESS
ACACB	32	.	GRCh37	12	109637346	109637346	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	22	48	0	ENST00000338432.7:c.2767G>C	p.Ala923Pro	p.A923P	ENST00000338432		923	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS31898.1	2767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACGCTGAG	NONE	.	.	PROSITE_profiles:PS50968,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Pfam_domain:PF00364,Gene3D:2.40.50.100,Superfamily_domains:SSF51230	.	.	ENSP00000341044	.	18/53	.	.	.	.	.	.	.	.	.	18/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Ala923Pro,ENST00000377854,;ACACB,missense_variant,p.Ala923Pro,ENST00000377848,;ACACB,missense_variant,p.Ala923Pro,ENST00000338432,;	2886	48	26	SUCCESS
ACACB	32	.	GRCh37	12	109637347	109637347	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	22	47	0	ENST00000338432.7:c.2768C>T	p.Ala923Val	p.A923V	ENST00000338432		923	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31898.1	2768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGCTGAGA	NONE	.	.	PROSITE_profiles:PS50968,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Pfam_domain:PF00364,Gene3D:2.40.50.100,Superfamily_domains:SSF51230	.	.	ENSP00000341044	.	18/53	.	.	.	.	.	.	.	.	.	18/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Ala923Val,ENST00000377854,;ACACB,missense_variant,p.Ala923Val,ENST00000377848,;ACACB,missense_variant,p.Ala923Val,ENST00000338432,;	2887	47	26	SUCCESS
NAA25	80018	.	GRCh37	12	112499100	112499100	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	87	146	0	ENST00000261745.4:c.1242T>A	p.His414Gln	p.H414Q	ENST00000261745	NM_024953.3	414	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS9159.1	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAATGTTG	NONE	.	.	hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF3,Pfam_domain:PF09797	.	.	ENSP00000261745	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000261745	Transcript	.	.	ENSG00000111300	25783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NAA25_HUMAN	NAA25	HGNC	.	.	UPI00001FBB50	SNV	NAA25,missense_variant,p.His414Gln,ENST00000261745,;RP1-267L14.3,upstream_gene_variant,,ENST00000551125,;NAA25,3_prime_UTR_variant,,ENST00000549711,;NAA25,3_prime_UTR_variant,,ENST00000551858,;NAA25,non_coding_transcript_exon_variant,,ENST00000552527,;	1491	146	184	SUCCESS
SDS	10993	.	GRCh37	12	113835135	113835135	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	64	126	0	ENST00000257549.4:c.488T>C	p.Ile163Thr	p.I163T	ENST00000257549	NM_006843.2	163	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS9169.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGATGGCC	CODON|p.I163M|c.489C>G|4	.	.	hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF73,Pfam_domain:PF00291,Gene3D:3.40.50.1100,Superfamily_domains:SSF53686	.	.	ENSP00000257549	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000257549	Transcript	.	.	ENSG00000135094	10691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SDHL_HUMAN	SDS	HGNC	.	.	UPI000013CF6B	SNV	SDS,missense_variant,p.Ile163Thr,ENST00000257549,;SDS,synonymous_variant,p.%3D,ENST00000552280,;SDS,downstream_gene_variant,,ENST00000547342,;SDS,non_coding_transcript_exon_variant,,ENST00000553112,;SDS,downstream_gene_variant,,ENST00000546785,;SDS,downstream_gene_variant,,ENST00000546639,;	611	126	134	SUCCESS
PITPNM2	57605	.	GRCh37	12	123474487	123474487	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs563437854	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	13	0	ENST00000320201.4:c.2578G>T	p.Asp860Tyr	p.D860Y	ENST00000320201	NM_020845.2	860	Gat/Tat	0	.	T:0	.	T:0	.	A	D/Y	protein_coding	YES	CCDS9242.1	2578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATCGGGGG	NONE	by1000G	.	Pfam_domain:PF02862,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41,PROSITE_profiles:PS51043	T:0	.	ENSP00000322218	T:0	17/25	.	.	.	.	.	.	.	.	rs563437854	17/25	PASS	ENST00000320201	Transcript	.	T:0.0002	ENSG00000090975	21044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	T:0.001	deleterious(0.04)	.	PITM2_HUMAN	PITPNM2	HGNC	Q9UF51_HUMAN,F5H664_HUMAN	.	UPI0000070D27	SNV	PITPNM2,missense_variant,p.Asp860Tyr,ENST00000542749,;PITPNM2,missense_variant,p.Asp581Tyr,ENST00000392428,;PITPNM2,missense_variant,p.Asp860Tyr,ENST00000320201,;PITPNM2,intron_variant,,ENST00000280562,;	2717	13	16	SUCCESS
PITPNM2	57605	.	GRCh37	12	123497236	123497236	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	134	0	ENST00000320201.4:c.339C>T	p.Thr113=	p.T113=	ENST00000320201	NM_020845.2	113	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9242.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGGTTTC	NONE	.	.	Prints_domain:PR00391,Superfamily_domains:SSF55961,Gene3D:3.30.530.20,Pfam_domain:PF02121,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41	.	.	ENSP00000322218	.	4/25	.	.	.	.	.	.	.	.	COSM118784	4/25	PASS	ENST00000320201	Transcript	.	.	ENSG00000090975	21044	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PITM2_HUMAN	PITPNM2	HGNC	Q9UF51_HUMAN,F5H664_HUMAN	.	UPI0000070D27	SNV	PITPNM2,synonymous_variant,p.%3D,ENST00000546049,;PITPNM2,synonymous_variant,p.%3D,ENST00000542749,;PITPNM2,synonymous_variant,p.%3D,ENST00000280562,;PITPNM2,synonymous_variant,p.%3D,ENST00000320201,;PITPNM2,intron_variant,,ENST00000392428,;PITPNM2,downstream_gene_variant,,ENST00000542210,;MIR4304,upstream_gene_variant,,ENST00000580964,;RN7SL133P,upstream_gene_variant,,ENST00000585256,;PITPNM2,non_coding_transcript_exon_variant,,ENST00000451868,;	478	134	105	SUCCESS
TMEM132D	121256	.	GRCh37	12	130184497	130184497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	143	312	2	ENST00000422113.2:c.826C>A	p.His276Asn	p.H276N	ENST00000422113	NM_133448.2	276	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS9266.1	826	RADIA|VARSCANS	.	CCTGTGTGTCT	NONE	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	tolerated(0.16)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.His276Asn,ENST00000422113,;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	1153	314	304	SUCCESS
TMPRSS12	283471	.	GRCh37	12	51237659	51237659	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	54	142	0	ENST00000398458.3:c.222A>G	p.Gln74=	p.Q74=	ENST00000398458	NM_182559.2	74	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS44881.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAAGGGTC	NONE	.	.	hmmpanther:PTHR24259:SF5,hmmpanther:PTHR24259,Superfamily_domains:SSF50494	.	.	ENSP00000381476	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000398458	Transcript	.	.	ENSG00000186452	28779	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPSC_HUMAN	TMPRSS12	HGNC	.	.	UPI000019741B	SNV	TMPRSS12,synonymous_variant,p.%3D,ENST00000398458,;TMPRSS12,synonymous_variant,p.%3D,ENST00000551456,;RN7SL519P,upstream_gene_variant,,ENST00000497925,;RP11-60E8.3,downstream_gene_variant,,ENST00000605614,;	254	142	119	SUCCESS
KRT75	9119	.	GRCh37	12	52822123	52822123	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757103627	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	97	0	ENST00000252245.5:c.1299G>T	p.Glu433Asp	p.E433D	ENST00000252245	NM_004693.2	433	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS8827.1	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTACTCACG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF111,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000252245	.	7/9	.	.	.	.	.	.	.	.	rs757103627	7/9	PASS	ENST00000252245	Transcript	.	.	ENSG00000170454	24431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	tolerated(0.24)	.	K2C75_HUMAN	KRT75	HGNC	.	.	UPI000013CD4E	SNV	KRT75,missense_variant,p.Glu433Asp,ENST00000252245,;RP11-1020M18.10,non_coding_transcript_exon_variant,,ENST00000548135,;	1520	97	99	SUCCESS
KRT6B	3854	.	GRCh37	12	52841356	52841356	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	82	194	0	ENST00000252252.3:c.1426C>T		p.X476_splice	ENST00000252252	NM_005555.3	476	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8828.1	1426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGCCTGT	BUFFER|p.G478G|c.1434C>T|4	.	.	hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239,Gene3D:1.20.5.170	.	.	ENSP00000252252	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000252252	Transcript	.	.	ENSG00000185479	6444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C6B_HUMAN	KRT6B	HGNC	.	.	UPI000013CD50	SNV	KRT6B,synonymous_variant,p.%3D,ENST00000252252,;	1474	194	187	SUCCESS
AMHR2	269	.	GRCh37	12	53823987	53823987	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	96	198	0	ENST00000257863.4:c.1346C>A	p.Thr449Asn	p.T449N	ENST00000257863	NM_001164690.1	449	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS8858.1	1346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTACCTCTG	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF037392,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR23255:SF49,hmmpanther:PTHR23255,PROSITE_profiles:PS50011	.	.	ENSP00000257863	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000257863	Transcript	.	.	ENSG00000135409	465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	AMHR2_HUMAN	AMHR2	HGNC	H3BPI9_HUMAN	.	UPI0000125970	SNV	AMHR2,missense_variant,p.Pro448Thr,ENST00000550311,;AMHR2,missense_variant,p.Thr449Asn,ENST00000257863,;AMHR2,missense_variant,p.Thr146Asn,ENST00000550839,;AMHR2,intron_variant,,ENST00000379791,;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000548303,;	1426	198	193	SUCCESS
HOXC10	3226	.	GRCh37	12	54382961	54382961	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	55	165	0	ENST00000303460.4:c.760A>G	p.Lys254Glu	p.K254E	ENST00000303460	NM_017409.3	254	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS8868.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATAAAGGCA	NONE	.	.	hmmpanther:PTHR24326:SF135,hmmpanther:PTHR24326,Gene3D:1.10.10.60	.	.	ENSP00000307321	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303460	Transcript	.	.	ENSG00000180818	5122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0)	.	HXC10_HUMAN	HOXC10	HGNC	Q53XI4_HUMAN,D6RAG4_HUMAN	.	UPI000012CF7C	SNV	HOXC10,missense_variant,p.Lys254Glu,ENST00000303460,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,upstream_gene_variant,,ENST00000504315,;HOXC10,downstream_gene_variant,,ENST00000515593,;MIR196A2,upstream_gene_variant,,ENST00000385189,;HOXC-AS3,upstream_gene_variant,,ENST00000514702,;HOXC-AS3,upstream_gene_variant,,ENST00000513165,;HOXC-AS3,upstream_gene_variant,,ENST00000509870,;HOXC-AS3,upstream_gene_variant,,ENST00000567780,;HOXC-AS2,downstream_gene_variant,,ENST00000604081,;HOXC10,non_coding_transcript_exon_variant,,ENST00000513413,;HOXC10,non_coding_transcript_exon_variant,,ENST00000514415,;HOXC10,non_coding_transcript_exon_variant,,ENST00000511575,;	834	165	116	SUCCESS
NAV3	89795	.	GRCh37	12	78513202	78513202	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	167	0	ENST00000397909.2:c.3226T>G	p.Ser1076Ala	p.S1076A	ENST00000397909	NM_001024383.1	1076	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS41815.1	3226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.48)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Ser1076Ala,ENST00000536525,;NAV3,missense_variant,p.Ser1076Ala,ENST00000397909,;NAV3,missense_variant,p.Ser1076Ala,ENST00000266692,;NAV3,missense_variant,p.Ser1076Ala,ENST00000228327,;NAV3,missense_variant,p.Ser148Ala,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	3399	167	120	SUCCESS
CCDC59	29080	.	GRCh37	12	82752141	82752141	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1251732500	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	31	0	ENST00000256151.7:c.15G>T	p.Arg5Ser	p.R5S	ENST00000256151	NM_014167.4	5	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9023.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCGCCTCAC	NONE	.	.	hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657	.	.	ENSP00000256151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000256151	Transcript	.	.	ENSG00000133773	25005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.09)	.	TAP26_HUMAN	CCDC59	HGNC	.	.	UPI0000034DFE	SNV	CCDC59,missense_variant,p.Arg5Ser,ENST00000552377,;CCDC59,missense_variant,p.Arg5Ser,ENST00000256151,;METTL25,upstream_gene_variant,,ENST00000550058,;METTL25,upstream_gene_variant,,ENST00000248306,;METTL25,upstream_gene_variant,,ENST00000548200,;CCDC59,intron_variant,,ENST00000548126,;METTL25,upstream_gene_variant,,ENST00000547985,;CCDC59,upstream_gene_variant,,ENST00000552412,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,intron_variant,,ENST00000547758,;CCDC59,upstream_gene_variant,,ENST00000550589,;	427	31	45	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85546125	85546125	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	88	225	0	ENST00000393217.2:c.4397C>A	p.Ser1466Ter	p.S1466*	ENST00000393217	NM_001079910.1	1466	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS41816.1	4397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCAAACC	NONE	.	.	.	.	.	ENSP00000376910	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,stop_gained,p.Ser1466Ter,ENST00000393217,;	4458	225	187	SUCCESS
DUSP6	1848	.	GRCh37	12	89744457	89744457	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	68	186	0	ENST00000279488.7:c.746A>G	p.Asn249Ser	p.N249S	ENST00000279488	NM_001946.2	249	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9033.1	746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGTTCTCA	NONE	.	.	PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF45,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF000939,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000279488	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000279488	Transcript	.	.	ENSG00000139318	3072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.4)	.	DUS6_HUMAN	DUSP6	HGNC	F8VZA4_HUMAN	.	UPI000013ED2F	SNV	DUSP6,missense_variant,p.Asn249Ser,ENST00000279488,;DUSP6,missense_variant,p.Asn124Ser,ENST00000547291,;DUSP6,intron_variant,,ENST00000308385,;DUSP6,downstream_gene_variant,,ENST00000548755,;DUSP6,non_coding_transcript_exon_variant,,ENST00000547140,;	1978	186	152	SUCCESS
SPATA13	221178	.	GRCh37	13	24797411	24797411	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	42	0	ENST00000382095.4:c.-222-26204A>T		p.*74*	ENST00000382095	NM_153023.2	115		0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS53857.1	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAAGAAAC	NONE	.	.	.	.	.	ENSP00000398560	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,missense_variant,p.Lys115Met,ENST00000382108,;SPATA13,missense_variant,p.Lys115Met,ENST00000424834,;SPATA13,intron_variant,,ENST00000382095,;SPATA13,upstream_gene_variant,,ENST00000474317,;RP11-307N16.6,missense_variant,p.Lys115Met,ENST00000382141,;SPATA13,non_coding_transcript_exon_variant,,ENST00000466831,;	817	42	48	SUCCESS
N4BP2L2	10443	.	GRCh37	13	33017687	33017687	+	synonymous_variant	Silent	SNP	T	T	C	rs770230119	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	154	353	0	ENST00000399396.3:c.987A>G	p.Lys329=	p.K329=	ENST00000399396	NM_033111.4	329	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS45024.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTTTTATC	NONE	.	.	hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF19	.	.	ENSP00000382328	.	7/10	.	.	.	.	.	.	.	.	rs770230119	7/10	PASS	ENST00000399396	Transcript	.	.	ENSG00000244754	26916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N42L2_HUMAN	N4BP2L2	HGNC	Q6ZV26_HUMAN,B4DPY1_HUMAN	.	UPI00015C73C2	SNV	N4BP2L2,synonymous_variant,p.%3D,ENST00000504114,;N4BP2L2,synonymous_variant,p.%3D,ENST00000357505,;N4BP2L2,synonymous_variant,p.%3D,ENST00000399396,;N4BP2L2,intron_variant,,ENST00000446957,;N4BP2L2,downstream_gene_variant,,ENST00000505213,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000380121,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000503296,;N4BP2L2,downstream_gene_variant,,ENST00000473025,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000509076,;	1009	353	297	SUCCESS
POSTN	10631	.	GRCh37	13	38164531	38164531	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	83	0	ENST00000379747.4:c.419A>T	p.Glu140Val	p.E140V	ENST00000379747	NM_006475.2	140	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS9364.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTCATTA	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	SNV	POSTN,missense_variant,p.Glu140Val,ENST00000379747,;POSTN,missense_variant,p.Glu140Val,ENST00000379749,;POSTN,missense_variant,p.Glu140Val,ENST00000541481,;POSTN,missense_variant,p.Glu140Val,ENST00000379743,;POSTN,missense_variant,p.Glu140Val,ENST00000541179,;POSTN,missense_variant,p.Glu140Val,ENST00000379742,;	537	83	51	SUCCESS
VWA8	23078	.	GRCh37	13	42293771	42293771	+	synonymous_variant	Silent	SNP	C	C	A	rs757985659	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	108	282	0	ENST00000379310.3:c.3072G>T	p.Gly1024=	p.G1024=	ENST00000379310	NM_015058.1	1024	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41881.1	3072	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTATCCCGTA	NONE	.	.	hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9	.	.	ENSP00000368612	.	26/45	.	.	.	.	.	.	.	.	rs757985659	26/45	PASS	ENST00000379310	Transcript	.	.	ENSG00000102763	29071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA8_HUMAN	VWA8	HGNC	.	.	UPI00001606AC	SNV	VWA8,synonymous_variant,p.%3D,ENST00000281496,;VWA8,synonymous_variant,p.%3D,ENST00000379310,;	3141	282	279	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102478246	102478246	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	53	118	0	ENST00000360184.4:c.6653A>T	p.His2218Leu	p.H2218L	ENST00000360184	NM_001376.4	2218	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS9966.1	6653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCATGGCC	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000348965	.	33/78	.	.	.	.	.	.	.	.	.	33/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.His2218Leu,ENST00000360184,;	6817	118	105	SUCCESS
JPH4	84502	.	GRCh37	14	24040535	24040535	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	46	0	ENST00000356300.4:c.1405C>T	p.Gln469Ter	p.Q469*	ENST00000356300	NM_001146028.1	469	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS9603.1	1405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTGGCGGG	NONE	.	.	PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085:SF14,hmmpanther:PTHR23085	.	.	ENSP00000380307	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000397118	Transcript	.	.	ENSG00000092051	20156	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JPH4_HUMAN	JPH4	HGNC	.	.	UPI00001C1F68	SNV	JPH4,stop_gained,p.Gln134Ter,ENST00000544177,;JPH4,stop_gained,p.Gln469Ter,ENST00000356300,;JPH4,stop_gained,p.Gln469Ter,ENST00000397118,;AP1G2,upstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000397120,;AP1G2,upstream_gene_variant,,ENST00000308724,;AP1G2,upstream_gene_variant,,ENST00000556843,;RP11-66N24.3,downstream_gene_variant,,ENST00000555968,;AP1G2,upstream_gene_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000557619,;AP1G2,upstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000556743,;AP1G2,upstream_gene_variant,,ENST00000535852,;AP1G2,upstream_gene_variant,,ENST00000460049,;JPH4,downstream_gene_variant,,ENST00000553505,;AP1G2,upstream_gene_variant,,ENST00000554816,;AP1G2,upstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000465445,;	2308	46	40	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36240179	36240179	+	synonymous_variant	Silent	SNP	T	T	C	rs142052327	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	147	431	2	ENST00000389698.3:c.294A>G	p.Arg98=	p.R98=	ENST00000389698	NM_014990.1	98	agA/agG	0	C:0.0002	.	.	.	.	C	R	protein_coding	YES	CCDS32064.1	294	RADIA|VARSCANS	.	TGAATTCTTTC	NONE	byCluster	.	hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063	.	C:0	ENSP00000302647	.	4/40	.	.	.	.	.	.	.	.	rs142052327	4/40	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,synonymous_variant,p.%3D,ENST00000389698,;RALGAPA1,synonymous_variant,p.%3D,ENST00000553892,;RALGAPA1,synonymous_variant,p.%3D,ENST00000258840,;RALGAPA1,synonymous_variant,p.%3D,ENST00000382366,;RALGAPA1,synonymous_variant,p.%3D,ENST00000307138,;QRSL1P3,downstream_gene_variant,,ENST00000552666,;	763	434	286	SUCCESS
CLEC14A	161198	.	GRCh37	14	38724364	38724364	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	31	0	ENST00000342213.2:c.864C>T	p.Thr288=	p.T288=	ENST00000342213	NM_175060.2	288	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9667.1	864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGGTCAC	NONE	.	.	hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838,Gene3D:2.10.25.10,Superfamily_domains:SSF57196	.	.	ENSP00000353013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342213	Transcript	.	.	ENSG00000176435	19832	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC14_HUMAN	CLEC14A	HGNC	.	.	UPI000000CBD4	SNV	CLEC14A,synonymous_variant,p.%3D,ENST00000342213,;	1211	31	33	SUCCESS
CLEC14A	161198	.	GRCh37	14	38724365	38724365	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	29	0	ENST00000342213.2:c.863C>A	p.Thr288Asn	p.T288N	ENST00000342213	NM_175060.2	288	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS9667.1	863	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGTCACA	NONE	.	.	hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838,Gene3D:2.10.25.10,Superfamily_domains:SSF57196	.	.	ENSP00000353013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342213	Transcript	.	.	ENSG00000176435	19832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.518)	.	deleterious(0.02)	.	CLC14_HUMAN	CLEC14A	HGNC	.	.	UPI000000CBD4	SNV	CLEC14A,missense_variant,p.Thr288Asn,ENST00000342213,;	1210	29	33	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68274384	68274384	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759231803	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	38	0	ENST00000347230.4:c.617G>A	p.Gly206Asp	p.G206D	ENST00000347230	NM_015346.3	206	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9788.1	617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCTGC	NONE	.	.	.	.	.	ENSP00000251119	.	5/42	.	.	.	.	.	.	.	.	rs759231803	5/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.54)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Gly206Asp,ENST00000555452,;ZFYVE26,missense_variant,p.Gly206Asp,ENST00000347230,;ZFYVE26,missense_variant,p.Gly206Asp,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	756	38	16	SUCCESS
ACTN1	87	.	GRCh37	14	69350972	69350972	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	98	227	1	ENST00000193403.6:c.1548G>T	p.Lys516Asn	p.K516N	ENST00000193403	NM_001102.3	516	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS45130.1	1548	RADIA|MUTECT|MUSE	.	GCCCGCTTGGC	NONE	.	.	hmmpanther:PTHR11915:SF241,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000377941	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000394419	Transcript	.	.	ENSG00000072110	163	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ACTN1_HUMAN	ACTN1	HGNC	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN	.	UPI0000D79B2C	SNV	ACTN1,missense_variant,p.Lys17Asn,ENST00000553290,;ACTN1,missense_variant,p.Lys516Asn,ENST00000538545,;ACTN1,missense_variant,p.Lys516Asn,ENST00000193403,;ACTN1,missense_variant,p.Lys516Asn,ENST00000394419,;ACTN1,missense_variant,p.Lys106Asn,ENST00000544964,;ACTN1,missense_variant,p.Lys516Asn,ENST00000438964,;ACTN1,missense_variant,p.Lys451Asn,ENST00000376839,;ACTN1,upstream_gene_variant,,ENST00000555075,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,upstream_gene_variant,,ENST00000556432,;HMGN1P3,downstream_gene_variant,,ENST00000555136,;	1731	228	108	SUCCESS
ACTN1	87	.	GRCh37	14	69350974	69350974	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	97	231	0	ENST00000193403.6:c.1546A>G	p.Lys516Glu	p.K516E	ENST00000193403	NM_001102.3	516	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS45130.1	1546	RADIA|MUTECT|MUSE	.	CCGCTTGGCAT	NONE	.	.	hmmpanther:PTHR11915:SF241,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000377941	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000394419	Transcript	.	.	ENSG00000072110	163	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	ACTN1_HUMAN	ACTN1	HGNC	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN	.	UPI0000D79B2C	SNV	ACTN1,missense_variant,p.Lys17Glu,ENST00000553290,;ACTN1,missense_variant,p.Lys516Glu,ENST00000538545,;ACTN1,missense_variant,p.Lys516Glu,ENST00000193403,;ACTN1,missense_variant,p.Lys516Glu,ENST00000394419,;ACTN1,missense_variant,p.Lys106Glu,ENST00000544964,;ACTN1,missense_variant,p.Lys516Glu,ENST00000438964,;ACTN1,missense_variant,p.Lys451Glu,ENST00000376839,;ACTN1,upstream_gene_variant,,ENST00000555075,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,upstream_gene_variant,,ENST00000556432,;HMGN1P3,downstream_gene_variant,,ENST00000555136,;	1729	231	108	SUCCESS
ADAM21P1	145241	.	GRCh37	14	70712622	70712622	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	190	518	0	ENST00000530196.1:n.1897A>C		p.*633*	ENST00000530196				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATTGATAT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530196	Transcript	.	.	ENSG00000235812	19822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ADAM21P1	HGNC	.	.	.	SNV	ADAM21P1,non_coding_transcript_exon_variant,,ENST00000530196,;ADAM21P1,non_coding_transcript_exon_variant,,ENST00000529267,;	1897	518	263	SUCCESS
ACOT2	10965	.	GRCh37	14	74036182	74036182	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	31	59	0	ENST00000238651.5:c.238C>A	p.Pro80Thr	p.P80T	ENST00000238651	NM_006821.5	80	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS9816.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAACCGGTG	NONE	.	.	hmmpanther:PTHR10824:SF5,hmmpanther:PTHR10824,Pfam_domain:PF04775,PIRSF_domain:PIRSF016521	.	.	ENSP00000238651	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000238651	Transcript	.	.	ENSG00000119673	18431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	ACOT2_HUMAN	ACOT2	HGNC	.	.	UPI000013CA4E	SNV	ACOT2,missense_variant,p.Pro80Thr,ENST00000238651,;ACOT2,intron_variant,,ENST00000538782,;ACOT2,upstream_gene_variant,,ENST00000557857,;NT5CP1,downstream_gene_variant,,ENST00000554092,;	420	59	32	SUCCESS
BCL11B	64919	.	GRCh37	14	99640713	99640713	+	synonymous_variant	Silent	SNP	G	G	C	rs373169869	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	53	0	ENST00000357195.3:c.2460C>G	p.Gly820=	p.G820=	ENST00000357195	NM_138576.2	820	ggC/ggG	0	A:0	.	.	.	.	C	G	protein_coding	YES	CCDS9950.1	2460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCGCCGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	A:0.0001	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	rs373169869	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,synonymous_variant,p.%3D,ENST00000443726,;BCL11B,synonymous_variant,p.%3D,ENST00000345514,;BCL11B,synonymous_variant,p.%3D,ENST00000357195,;	2470	53	67	SUCCESS
CHSY1	22856	.	GRCh37	15	101718497	101718497	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1042167798	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	140	0	ENST00000254190.3:c.1505G>T	p.Gly502Val	p.G502V	ENST00000254190	NM_014918.4	502	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10390.1	1505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCCAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF16,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000254190	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254190	Transcript	1	.	ENSG00000131873	17198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	tolerated(0.29)	.	CHSS1_HUMAN	CHSY1	HGNC	.	.	UPI000000DB6C	SNV	CHSY1,missense_variant,p.Gly502Val,ENST00000254190,;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;	1981	140	100	SUCCESS
ULK4P1	89838	.	GRCh37	15	32716897	32716897	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1387	283	2223	1	ENST00000564495.1:n.175+3495C>A		p.*59*	ENST00000564495				0	.	.	.	.	.	T	.	snoRNA	YES	.	.	RADIA|MUSE|VARSCANS	.	TGGTGGTTGTT	NONE	.	1592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000384260	Transcript	.	.	ENSG00000206987	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	U8	RFAM	.	.	.	SNV	U8,downstream_gene_variant,,ENST00000384260,;RP13-395E19.3,non_coding_transcript_exon_variant,,ENST00000562108,;ULK4P1,non_coding_transcript_exon_variant,,ENST00000565949,;ULK4P1,non_coding_transcript_exon_variant,,ENST00000565207,;ULK4P1,intron_variant,,ENST00000564495,;ULK4P1,non_coding_transcript_exon_variant,,ENST00000565174,;	.	2224	1670	SUCCESS
ZNF106	64397	.	GRCh37	15	42734378	42734378	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760102454	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	106	237	0	ENST00000263805.4:c.3587C>T	p.Ser1196Leu	p.S1196L	ENST00000263805	NM_022473.1	1196	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS32208.1	3587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTGATGAG	NONE	.	.	hmmpanther:PTHR14435	.	.	ENSP00000263805	.	7/19	.	.	.	.	.	.	.	.	rs760102454	7/19	PASS	ENST00000263805	Transcript	.	.	ENSG00000103994	12886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	ZN106_HUMAN	ZNF106	HGNC	H3BNX5_HUMAN	.	UPI000006D6CC	SNV	ZNF106,missense_variant,p.Ser381Leu,ENST00000565611,;ZNF106,missense_variant,p.Ser424Leu,ENST00000565380,;ZNF106,missense_variant,p.Ser250Leu,ENST00000565500,;ZNF106,missense_variant,p.Ser154Leu,ENST00000567772,;ZNF106,missense_variant,p.Ser1196Leu,ENST00000263805,;ZNF106,downstream_gene_variant,,ENST00000565948,;	3914	237	221	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45713263	45713263	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	83	0	ENST00000305560.6:c.2117A>G	p.Glu706Gly	p.E706G	ENST00000305560	NM_024063.2	706	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10123.1	2117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGAAAATG	NONE	.	.	hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077,Gene3D:1.10.8.60,Superfamily_domains:SSF52540	.	.	ENSP00000305494	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0.01)	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,missense_variant,p.Glu706Gly,ENST00000305560,;SPATA5L1,missense_variant,p.Glu211Gly,ENST00000531624,;SPATA5L1,non_coding_transcript_exon_variant,,ENST00000533841,;SPATA5L1,3_prime_UTR_variant,,ENST00000531970,;SPATA5L1,downstream_gene_variant,,ENST00000533199,;	2216	83	72	SUCCESS
FBN1	2200	.	GRCh37	15	48796007	48796007	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs769708437	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	81	229	0	ENST00000316623.5:c.2090A>C	p.Gln697Pro	p.Q697P	ENST00000316623	NM_000138.4	697	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS32232.1	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCTGGCAA	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Pfam_domain:PF00683,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000325527	.	17/66	.	.	.	.	.	.	.	.	rs769708437	17/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Gln697Pro,ENST00000316623,;FBN1,intron_variant,,ENST00000537463,;	2546	229	190	SUCCESS
NARG2	0	.	GRCh37	15	60758888	60758888	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	105	0	ENST00000261520.4:c.433G>T	p.Glu145Ter	p.E145*	ENST00000261520	NM_024611.5	145	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS10176.1	433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCTTCGT	NONE	.	.	hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633	.	.	ENSP00000261520	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000261520	Transcript	.	.	ENSG00000128915	29885	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NARG2_HUMAN	NARG2	HGNC	H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN	.	UPI00001A828C	SNV	NARG2,stop_gained,p.Glu145Ter,ENST00000561114,;NARG2,stop_gained,p.Glu145Ter,ENST00000261520,;NARG2,stop_gained,p.Glu145Ter,ENST00000558512,;NARG2,stop_gained,p.Glu145Ter,ENST00000560072,;NARG2,stop_gained,p.Glu8Ter,ENST00000439632,;NARG2,downstream_gene_variant,,ENST00000560406,;NARG2,downstream_gene_variant,,ENST00000560520,;NARG2,non_coding_transcript_exon_variant,,ENST00000558654,;NARG2,non_coding_transcript_exon_variant,,ENST00000561087,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,3_prime_UTR_variant,,ENST00000560668,;NARG2,3_prime_UTR_variant,,ENST00000561446,;NARG2,intron_variant,,ENST00000560895,;	668	105	78	SUCCESS
ISL2	64843	.	GRCh37	15	76632729	76632729	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	65	0	ENST00000290759.4:c.624C>G	p.Thr208=	p.T208=	ENST00000290759	NM_145805.1	208	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS10290.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACCTGCTA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24204,hmmpanther:PTHR24204:SF2,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000290759	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000290759	Transcript	.	.	ENSG00000159556	18524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ISL2_HUMAN	ISL2	HGNC	.	.	UPI000012D8FC	SNV	ISL2,synonymous_variant,p.%3D,ENST00000290759,;RP11-685G9.4,upstream_gene_variant,,ENST00000602530,;RP11-685G9.2,non_coding_transcript_exon_variant,,ENST00000559539,;ISL2,missense_variant,p.Leu121Val,ENST00000558656,;ISL2,downstream_gene_variant,,ENST00000558437,;	784	65	113	SUCCESS
FAH	2184	.	GRCh37	15	80465405	80465405	+	synonymous_variant	Silent	SNP	G	G	A	rs202041382	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	95	231	0	ENST00000261755.5:c.756G>A	p.Gly252=	p.G252=	ENST00000261755		252	ggG/ggA	0	A:0	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS10314.1	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGAAGAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11820:SF1,hmmpanther:PTHR11820,Pfam_domain:PF01557,TIGRFAM_domain:TIGR01266,Gene3D:3.90.850.10,Superfamily_domains:SSF56529	A:0	A:0.0001	ENSP00000385080	A:0.001	10/15	.	.	.	.	.	.	.	.	rs202041382	10/15	PASS	ENST00000407106	Transcript	1	A:0.0002	ENSG00000103876	3579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FAAA_HUMAN	FAH	HGNC	Q53XA7_HUMAN,H0YLC7_HUMAN	.	UPI000012A422	SNV	FAH,synonymous_variant,p.%3D,ENST00000407106,;FAH,synonymous_variant,p.%3D,ENST00000539156,;FAH,synonymous_variant,p.%3D,ENST00000561421,;FAH,synonymous_variant,p.%3D,ENST00000261755,;FAH,downstream_gene_variant,,ENST00000558022,;FAH,non_coding_transcript_exon_variant,,ENST00000558627,;FAH,non_coding_transcript_exon_variant,,ENST00000559542,;FAH,upstream_gene_variant,,ENST00000559217,;FAH,upstream_gene_variant,,ENST00000561353,;FAH,downstream_gene_variant,,ENST00000558514,;	911	231	196	SUCCESS
BTBD1	53339	.	GRCh37	15	83687553	83687553	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	153	354	0	ENST00000261721.4:c.1196G>A	p.Ser399Asn	p.S399N	ENST00000261721	NM_001011885.1	399	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS10322.1	1196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAACTAAAG	NONE	.	.	hmmpanther:PTHR24413:SF15,hmmpanther:PTHR24413,Pfam_domain:PF08005	.	.	ENSP00000261721	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000261721	Transcript	.	.	ENSG00000064726	1120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.32)	.	BTBD1_HUMAN	BTBD1	HGNC	B7Z572_HUMAN	.	UPI00000012BE	SNV	BTBD1,missense_variant,p.Val370Ile,ENST00000379403,;BTBD1,missense_variant,p.Ser399Asn,ENST00000261721,;RP11-382A20.7,intron_variant,,ENST00000570202,;RP11-382A20.5,intron_variant,,ENST00000566841,;RP11-382A20.6,upstream_gene_variant,,ENST00000568441,;RP11-90B9.2,downstream_gene_variant,,ENST00000560450,;BTBD1,3_prime_UTR_variant,,ENST00000559652,;BTBD1,downstream_gene_variant,,ENST00000558344,;AC022558.1,downstream_gene_variant,,ENST00000328906,;	1399	354	306	SUCCESS
CDIPT	10423	.	GRCh37	16	29873915	29873915	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	51	104	0	ENST00000219789.6:c.170T>C	p.Leu57Pro	p.L57P	ENST00000219789	NM_006319.3	57	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS10657.1	170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTAAGAGCG	NONE	.	.	PIRSF_domain:PIRSF000848,Pfam_domain:PF01066,PROSITE_patterns:PS00379,hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF4	.	.	ENSP00000219789	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000219789	Transcript	.	.	ENSG00000103502	1769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	CDIPT_HUMAN	CDIPT	HGNC	B3KSW0_HUMAN,A8K3L7_HUMAN	.	UPI0000131B1C	SNV	CDIPT,missense_variant,p.Leu57Pro,ENST00000563415,;CDIPT,missense_variant,p.Leu57Pro,ENST00000219789,;CDIPT,missense_variant,p.Leu57Pro,ENST00000569956,;CDIPT,missense_variant,p.Leu57Pro,ENST00000570016,;CDIPT,intron_variant,,ENST00000566113,;CDIPT,upstream_gene_variant,,ENST00000561555,;CDIPT-AS1,upstream_gene_variant,,ENST00000565014,;CDIPT-AS1,upstream_gene_variant,,ENST00000398859,;CDIPT,upstream_gene_variant,,ENST00000567459,;CDIPT,synonymous_variant,p.%3D,ENST00000564296,;CDIPT,non_coding_transcript_exon_variant,,ENST00000563893,;CDIPT,non_coding_transcript_exon_variant,,ENST00000562041,;	1049	104	114	SUCCESS
ZNF205	7755	.	GRCh37	16	3165349	3165349	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	91	0	ENST00000219091.4:c.58-7T>A		p.X20_splice	ENST00000219091	NM_001042428.1	20		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10494.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTTTCTA	NONE	.	.	.	.	.	ENSP00000371627	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382192	Transcript	.	.	ENSG00000122386	12996	.	.	LOW	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN205_HUMAN	ZNF205	HGNC	C9JS60_HUMAN,C9JEY6_HUMAN,B2R7J8_HUMAN	.	UPI00000437F2	SNV	ZNF205,splice_region_variant,,ENST00000382192,;ZNF205,splice_region_variant,,ENST00000219091,;ZNF205,splice_region_variant,,ENST00000414351,;ZNF205,splice_region_variant,,ENST00000444510,;ZNF205,upstream_gene_variant,,ENST00000570935,;ZNF205-AS1,non_coding_transcript_exon_variant,,ENST00000572691,;RP11-473M20.14,downstream_gene_variant,,ENST00000575139,;RP11-473M20.14,downstream_gene_variant,,ENST00000576490,;ZNF205-AS1,upstream_gene_variant,,ENST00000576943,;	.	91	74	SUCCESS
SLC6A10P	386757	.	GRCh37	16	32893126	32893126	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	38	0	ENST00000330048.5:n.1689C>A		p.*563*	ENST00000330048				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGCAGGGTGG	NONE	.	4421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398669	Transcript	.	.	ENSG00000214614	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-989E6.3	Clone_based_vega_gene	.	.	.	SNV	RP11-989E6.3,upstream_gene_variant,,ENST00000562241,;RP11-989E6.3,upstream_gene_variant,,ENST00000398669,;RP11-989E6.3,upstream_gene_variant,,ENST00000566260,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000330048,;SLC6A10P,downstream_gene_variant,,ENST00000561837,;SLC6A10P,intron_variant,,ENST00000431994,;	.	38	24	SUCCESS
NOD2	64127	.	GRCh37	16	50744820	50744820	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	59	102	1	ENST00000300589.2:c.998G>C	p.Cys333Ser	p.C333S	ENST00000300589	NM_022162.1	333	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS10746.1	998	RADIA|SOMATICSNIPER|VARSCANS	.	CAGCTGCCGGC	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000300589	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000300589	Transcript	.	.	ENSG00000167207	5331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOD2_HUMAN	NOD2	HGNC	Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN	.	UPI000005027A	SNV	NOD2,missense_variant,p.Cys333Ser,ENST00000300589,;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,non_coding_transcript_exon_variant,,ENST00000526417,;NOD2,downstream_gene_variant,,ENST00000532206,;NOD2,downstream_gene_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000527052,;NOD2,upstream_gene_variant,,ENST00000534067,;	1103	103	122	SUCCESS
CHD9	80205	.	GRCh37	16	53352156	53352157	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AAAAAGAC	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	343	0	ENST00000398510.3:c.7621_7622insAGACAAAA	p.Arg2541LysfsTer13	p.R2541Kfs*13	ENST00000398510		2539	-/AAAAAGAC	0	.	.	.	.	.	AAAAAGAC	-/KKX	protein_coding	YES	CCDS45485.1	7569-7570	VARSCANI*|PINDEL	.	AAACAAAAAAG	NONE	.	.	Superfamily_domains:SSF160481	.	.	ENSP00000457466	.	37/39	.	.	.	.	.	.	.	.	.	37/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	insertion	CHD9,frameshift_variant,p.Arg2525LysfsTer13,ENST00000566029,;CHD9,frameshift_variant,p.Arg2526LysfsTer13,ENST00000447540,;CHD9,frameshift_variant,p.Arg2525LysfsTer13,ENST00000564845,;CHD9,frameshift_variant,p.Arg2541LysfsTer13,ENST00000398510,;CHD9,frameshift_variant,p.Arg73LysfsTer13,ENST00000564641,;CHD9,frameshift_variant,p.Arg91LysfsTer13,ENST00000564600,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	7778-7779	343	25	SUCCESS
SLC6A2	6530	.	GRCh37	16	55736246	55736246	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	128	245	0	ENST00000379906.2:c.1842G>T	p.Trp614Cys	p.W614C	ENST00000379906	NM_001043.3	614	tgG/tgT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54011.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGCTGGC	NONE	.	.	.	.	.	ENSP00000219833	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000219833	Transcript	.	.	ENSG00000103546	11048	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A2_HUMAN	SLC6A2	HGNC	Q9Y6W9_HUMAN,H3BMY5_HUMAN	.	UPI00000734FD	SNV	SLC6A2,missense_variant,p.Trp569Cys,ENST00000566163,;SLC6A2,missense_variant,p.Trp614Cys,ENST00000379906,;SLC6A2,missense_variant,p.Trp614Cys,ENST00000568943,;SLC6A2,missense_variant,p.Trp558Cys,ENST00000414754,;SLC6A2,missense_variant,p.Trp509Cys,ENST00000567238,;SLC6A2,intron_variant,,ENST00000561820,;SLC6A2,intron_variant,,ENST00000219833,;SLC6A2,intron_variant,,ENST00000574918,;	.	245	135	SUCCESS
CCDC102A	92922	.	GRCh37	16	57549306	57549306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	50	75	1	ENST00000258214.2:c.1470G>T	p.Glu490Asp	p.E490D	ENST00000258214	NM_033212.3	490	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS10784.1	1470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGCTCGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF269	.	.	ENSP00000258214	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000258214	Transcript	.	.	ENSG00000135736	28097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	C102A_HUMAN	CCDC102A	HGNC	.	.	UPI000013CFBA	SNV	CCDC102A,missense_variant,p.Glu490Asp,ENST00000258214,;CCDC102A,non_coding_transcript_exon_variant,,ENST00000569068,;	1717	76	53	SUCCESS
CPNE7	27132	.	GRCh37	16	89661808	89661808	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764394624	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	51	109	0	ENST00000268720.5:c.1561G>T	p.Val521Leu	p.V521L	ENST00000268720	NM_014427.4	521	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS10980.1	1561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGTGGTG	NONE	byFrequency	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF6,Pfam_domain:PF07002,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000268720	.	16/17	.	.	.	.	.	.	.	.	rs764394624	16/17	PASS	ENST00000268720	Transcript	.	.	ENSG00000178773	2320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.685)	.	deleterious(0.01)	.	CPNE7_HUMAN	CPNE7	HGNC	.	.	UPI0000127C17	SNV	CPNE7,missense_variant,p.Val166Leu,ENST00000529800,;CPNE7,missense_variant,p.Val446Leu,ENST00000319518,;CPNE7,missense_variant,p.Val521Leu,ENST00000268720,;CPNE7,upstream_gene_variant,,ENST00000526232,;CPNE7,non_coding_transcript_exon_variant,,ENST00000566398,;CPNE7,upstream_gene_variant,,ENST00000564421,;CPNE7,missense_variant,p.Arg49Leu,ENST00000568977,;	1691	109	93	SUCCESS
NCOR1	9611	.	GRCh37	17	15973499	15973501	+	frameshift_variant	Frame_Shift_Del	DEL	ATG	ATG	TT	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	ATG	ATG	.	.	.	.	.	.	.	.	.	.	.	.	.	72	67	138	0	ENST00000268712.3:c.4491_4493delinsAA	p.Met1498ArgfsTer2	p.M1498Rfs*2	ENST00000268712	NM_006311.3	1497	ccCATg/ccAAg	0	.	.	.	.	.	TT	PM/PX	protein_coding	YES	CCDS11175.1	4491-4493	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTCATCATGGGTGA	NONE	.	.	hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	.	.	ENSP00000268712	.	31/46	.	.	.	.	.	.	.	.	.	31/46	PASS	ENST00000268712	Transcript	.	.	ENSG00000141027	7672	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOR1_HUMAN	NCOR1	HGNC	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN	.	UPI000013D7D5	substitution	NCOR1,frameshift_variant,p.Met82ArgfsTer2,ENST00000395857,;NCOR1,frameshift_variant,p.Met129ArgfsTer2,ENST00000395849,;NCOR1,frameshift_variant,p.Met1514ArgfsTer2,ENST00000395851,;NCOR1,frameshift_variant,p.Met1498ArgfsTer2,ENST00000268712,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;NCOR1,upstream_gene_variant,,ENST00000584872,;NCOR1,upstream_gene_variant,,ENST00000470782,;	4749-4751	138	139	SUCCESS
EFCAB5	374786	.	GRCh37	17	28295950	28295950	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751862588	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	105	226	1	ENST00000394835.3:c.332A>G	p.Glu111Gly	p.E111G	ENST00000394835	NM_198529.3	111	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS11254.2	332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGAGCACA	NONE	.	.	hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF3	.	.	ENSP00000378312	.	4/23	.	.	.	.	.	.	.	.	rs751862588	4/23	PASS	ENST00000394835	Transcript	.	.	ENSG00000176927	24801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0)	.	EFCB5_HUMAN	EFCAB5	HGNC	C9J1E6_HUMAN	.	UPI0000E59EF5	SNV	EFCAB5,missense_variant,p.Glu111Gly,ENST00000320856,;EFCAB5,missense_variant,p.Glu55Gly,ENST00000536908,;EFCAB5,missense_variant,p.Glu111Gly,ENST00000378738,;EFCAB5,missense_variant,p.Glu111Gly,ENST00000394832,;EFCAB5,missense_variant,p.Glu111Gly,ENST00000394835,;EFCAB5,missense_variant,p.Glu55Gly,ENST00000448319,;EFCAB5,intron_variant,,ENST00000541045,;EFCAB5,upstream_gene_variant,,ENST00000419434,;EFCAB5,upstream_gene_variant,,ENST00000588978,;EFCAB5,intron_variant,,ENST00000534836,;EFCAB5,downstream_gene_variant,,ENST00000421238,;EFCAB5,missense_variant,p.Glu111Gly,ENST00000440741,;EFCAB5,intron_variant,,ENST00000423598,;RP11-338L22.3,upstream_gene_variant,,ENST00000581995,;	524	227	195	SUCCESS
TMEM132E	124842	.	GRCh37	17	32959819	32959819	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760312005	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	65	168	0	ENST00000321639.5:c.1309C>T	p.Pro437Ser	p.P437S	ENST00000321639	NM_207313.1	437	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11283.1	1309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTCCCCTG	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	7/10	.	.	.	.	.	.	.	.	rs760312005,COSM977728	7/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.92)	.	deleterious(0.04)	0,1	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Pro437Ser,ENST00000321639,;TMEM132E,upstream_gene_variant,,ENST00000577271,;	1637	168	234	SUCCESS
LYZL6	57151	.	GRCh37	17	34261843	34261843	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	57	63	0	ENST00000585556.1:c.404G>T	p.Gly135Val	p.G135V	ENST00000585556		135	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11302.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCCTGAA	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF9,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00137	.	.	ENSP00000468094	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000585556	Transcript	.	.	ENSG00000161572	29614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	LYZL6_HUMAN	LYZL6	HGNC	.	.	UPI000006E183	SNV	LYZL6,missense_variant,p.Gly135Val,ENST00000394523,;LYZL6,missense_variant,p.Gly135Val,ENST00000293274,;LYZL6,missense_variant,p.Gly135Val,ENST00000585556,;RDM1,upstream_gene_variant,,ENST00000430160,;RDM1,upstream_gene_variant,,ENST00000394529,;RDM1,upstream_gene_variant,,ENST00000425909,;RDM1,upstream_gene_variant,,ENST00000394528,;RDM1,upstream_gene_variant,,ENST00000293273,;RDM1,upstream_gene_variant,,ENST00000419453,;RDM1,upstream_gene_variant,,ENST00000431884,;RDM1,upstream_gene_variant,,ENST00000394527,;RDM1,upstream_gene_variant,,ENST00000591402,;LYZL6,downstream_gene_variant,,ENST00000492340,;RDM1,upstream_gene_variant,,ENST00000585884,;RDM1,upstream_gene_variant,,ENST00000592489,;RDM1,upstream_gene_variant,,ENST00000585939,;RDM1,upstream_gene_variant,,ENST00000591420,;RDM1,upstream_gene_variant,,ENST00000436836,;	739	63	101	SUCCESS
SYNRG	11276	.	GRCh37	17	35880688	35880688	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	64	140	0	ENST00000339208.6:c.3730G>C	p.Glu1244Gln	p.E1244Q	ENST00000339208	NM_001163544.1	1244	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS11321.1	3730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTCCTGAG	NONE	.	.	hmmpanther:PTHR15463	.	.	ENSP00000343610	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000339208	Transcript	.	.	ENSG00000006114	557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.14)	.	SYNRG_HUMAN	SYNRG	HGNC	.	.	UPI000013C4EA	SNV	SYNRG,missense_variant,p.Glu1189Gln,ENST00000394378,;SYNRG,missense_variant,p.Glu1121Gln,ENST00000502449,;SYNRG,missense_variant,p.Glu1038Gln,ENST00000591288,;SYNRG,missense_variant,p.Glu1244Gln,ENST00000339208,;SYNRG,missense_variant,p.Glu1166Gln,ENST00000345615,;SYNRG,missense_variant,p.Glu1165Gln,ENST00000585472,;SYNRG,missense_variant,p.Glu1244Gln,ENST00000346661,;SYNRG,upstream_gene_variant,,ENST00000590102,;SYNRG,non_coding_transcript_exon_variant,,ENST00000508220,;	3871	140	184	SUCCESS
FBXO47	494188	.	GRCh37	17	37093476	37093476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	149	167	0	ENST00000378079.2:c.1311C>A	p.Phe437Leu	p.F437L	ENST00000378079	NM_001008777.2	437	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS32639.1	1311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGGAAGTT	NONE	.	.	.	.	.	ENSP00000367319	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000378079	Transcript	.	.	ENSG00000204952	31969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0)	.	FBX47_HUMAN	FBXO47	HGNC	.	.	UPI00004DDAF1	SNV	FBXO47,missense_variant,p.Phe437Leu,ENST00000378079,;	1511	167	250	SUCCESS
STARD3	10948	.	GRCh37	17	37814042	37814042	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	227	255	0	ENST00000336308.5:c.312C>T	p.Phe104=	p.F104=	ENST00000336308	NM_006804.3	104	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS11341.1	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCCGCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51439,hmmpanther:PTHR12136:SF51,hmmpanther:PTHR12136,Pfam_domain:PF10457	.	.	ENSP00000337446	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000336308	Transcript	.	.	ENSG00000131748	17579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAR3_HUMAN	STARD3	HGNC	J3QRG8_HUMAN,J3QLS1_HUMAN,J3KT87_HUMAN,J3KSL3_HUMAN,J3KSH0_HUMAN,C9J555_HUMAN,B3KVT4_HUMAN	.	UPI000013CE10	SNV	STARD3,synonymous_variant,p.%3D,ENST00000577248,;STARD3,synonymous_variant,p.%3D,ENST00000336308,;STARD3,synonymous_variant,p.%3D,ENST00000579479,;STARD3,synonymous_variant,p.%3D,ENST00000544210,;STARD3,synonymous_variant,p.%3D,ENST00000581894,;STARD3,synonymous_variant,p.%3D,ENST00000394250,;STARD3,synonymous_variant,p.%3D,ENST00000580611,;STARD3,synonymous_variant,p.%3D,ENST00000583419,;STARD3,synonymous_variant,p.%3D,ENST00000443521,;STARD3,synonymous_variant,p.%3D,ENST00000583718,;STARD3,downstream_gene_variant,,ENST00000580331,;STARD3,non_coding_transcript_exon_variant,,ENST00000582874,;STARD3,non_coding_transcript_exon_variant,,ENST00000460894,;STARD3,non_coding_transcript_exon_variant,,ENST00000578254,;STARD3,non_coding_transcript_exon_variant,,ENST00000578232,;STARD3,non_coding_transcript_exon_variant,,ENST00000585214,;STARD3,upstream_gene_variant,,ENST00000583639,;STARD3,synonymous_variant,p.%3D,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000484773,;STARD3,non_coding_transcript_exon_variant,,ENST00000583582,;STARD3,non_coding_transcript_exon_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000584850,;STARD3,upstream_gene_variant,,ENST00000578384,;STARD3,upstream_gene_variant,,ENST00000583884,;STARD3,upstream_gene_variant,,ENST00000481171,;STARD3,upstream_gene_variant,,ENST00000585269,;STARD3,upstream_gene_variant,,ENST00000578686,;STARD3,upstream_gene_variant,,ENST00000471896,;	530	255	376	SUCCESS
KRT34	3885	.	GRCh37	17	39534380	39534380	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs138365209	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	55	104	0	ENST00000394001.1:c.1242C>A	p.Cys414Ter	p.C414*	ENST00000394001	NM_021013.3	414	tgC/tgA	0	A:0.0014	A:0.0061	.	A:0	.	T	C/*	protein_coding	YES	CCDS11390.1	1242	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGCATGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23239:SF165,hmmpanther:PTHR23239	A:0	A:0	ENSP00000377570	A:0	7/7	.	.	.	.	.	.	.	.	rs138365209	7/7	PASS	ENST00000394001	Transcript	.	A:0.0016	ENSG00000131737	6452	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	KRT34_HUMAN	KRT34	HGNC	.	.	UPI000013CD0C	SNV	KRT34,stop_gained,p.Cys414Ter,ENST00000394001,;	1273	104	159	SUCCESS
SLC4A1	6521	.	GRCh37	17	42335438	42335438	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	45	95	0	ENST00000262418.6:c.1198G>T	p.Ala400Ser	p.A400S	ENST00000262418	NM_000342.3	400	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11481.1	1198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCATCTG	NONE	.	.	hmmpanther:PTHR11453:SF12,hmmpanther:PTHR11453,Gene3D:1bzkA00,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,Prints_domain:PR01231	.	.	ENSP00000262418	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000262418	Transcript	.	.	ENSG00000004939	11027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	B3AT_HUMAN	SLC4A1	HGNC	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN	.	UPI00000375B8	SNV	SLC4A1,missense_variant,p.Ala400Ser,ENST00000262418,;AC003043.1,intron_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	1354	96	134	SUCCESS
ARSG	22901	.	GRCh37	17	66303755	66303755	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	478	222	491	0	ENST00000448504.2:c.121A>G	p.Ile41Val	p.I41V	ENST00000448504	NM_014960.4	41	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11676.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTATTTTG	NONE	.	.	Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF186	.	.	ENSP00000407193	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000448504	Transcript	.	.	ENSG00000141337	24102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.09)	.	ARSG_HUMAN	ARSG	HGNC	J9JIG6_HUMAN,J3KS49_HUMAN	.	UPI000003FD81	SNV	ARSG,missense_variant,p.Ile41Val,ENST00000448504,;ARSG,intron_variant,,ENST00000452479,;ARSG,downstream_gene_variant,,ENST00000581639,;	917	491	700	SUCCESS
KIF19	124602	.	GRCh37	17	72345442	72345442	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	54	45	0	ENST00000389916.4:c.1168del	p.Gln390ArgfsTer285	p.Q390Rfs*285	ENST00000389916	NM_153209.3	389	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32718.2	1167	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGGGCCAGGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402	.	.	ENSP00000374566	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	deletion	KIF19,frameshift_variant,p.Gln390ArgfsTer285,ENST00000389916,;KIF19,frameshift_variant,p.Gln348ArgfsTer?,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000549637,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;	1305	45	98	SUCCESS
HID1	283987	.	GRCh37	17	72949120	72949120	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	71	106	0	ENST00000425042.2:c.2033G>A	p.Trp678Ter	p.W678*	ENST00000425042	NM_030630.2	678	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS32726.1	2033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCACTGC	NONE	.	.	Pfam_domain:PF12722,hmmpanther:PTHR21575,hmmpanther:PTHR21575:SF12	.	.	ENSP00000413520	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000425042	Transcript	.	.	ENSG00000167861	15736	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HID1_HUMAN	HID1	HGNC	Q8NC03_HUMAN,B4E226_HUMAN	.	UPI00000746AC	SNV	HID1,stop_gained,p.Trp678Ter,ENST00000425042,;HID1,downstream_gene_variant,,ENST00000318565,;OTOP3,downstream_gene_variant,,ENST00000328801,;HID1,downstream_gene_variant,,ENST00000578002,;HID1,3_prime_UTR_variant,,ENST00000534480,;HID1,non_coding_transcript_exon_variant,,ENST00000532395,;HID1,downstream_gene_variant,,ENST00000532894,;OTOP3,downstream_gene_variant,,ENST00000580749,;	2111	106	227	SUCCESS
TEX19	400629	.	GRCh37	17	80320463	80320463	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	60	137	0	ENST00000333437.4:c.437C>G	p.Pro146Arg	p.P146R	ENST00000333437	NM_207459.3	146	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS11809.1	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCCTGGA	NONE	.	.	hmmpanther:PTHR31387,Pfam_domain:PF15553	.	.	ENSP00000331500	.	2/2	.	.	.	.	.	.	.	.	COSM3523838	2/2	PASS	ENST00000333437	Transcript	.	.	ENSG00000182459	33802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	TEX19_HUMAN	TEX19	HGNC	.	.	UPI0000071980	SNV	TEX19,missense_variant,p.Pro146Arg,ENST00000333437,;	747	137	191	SUCCESS
SPIRE1	56907	.	GRCh37	18	12453128	12453128	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	22	254	0	ENST00000409402.4:c.1786del	p.Cys596ValfsTer58	p.C596Vfs*58	ENST00000409402	NM_001128626.1	596	Tgt/gt	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS45829.1	1786	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAACAAAAGC	NONE	.	.	Superfamily_domains:SSF57903,Gene3D:3.30.40.10,hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000387266	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000409402	Transcript	.	.	ENSG00000134278	30622	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPIR1_HUMAN	SPIRE1	HGNC	Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN	.	UPI00001C1FFE	deletion	SPIRE1,frameshift_variant,p.Cys596ValfsTer58,ENST00000409402,;SPIRE1,frameshift_variant,p.Cys582ValfsTer58,ENST00000410092,;SPIRE1,frameshift_variant,p.Cys423ValfsTer?,ENST00000383356,;SPIRE1,frameshift_variant,p.Cys385ValfsTer58,ENST00000309836,;SPIRE1,frameshift_variant,p.Cys462ValfsTer58,ENST00000453447,;RP11-861E21.2,downstream_gene_variant,,ENST00000589795,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000464481,;SPIRE1,frameshift_variant,p.Cys423ValfsTer66,ENST00000440472,;SPIRE1,3_prime_UTR_variant,,ENST00000592156,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000588236,;SPIRE1,upstream_gene_variant,,ENST00000498803,;RP11-861E21.3,downstream_gene_variant,,ENST00000588063,;	2054	254	222	SUCCESS
CCBE1	147372	.	GRCh37	18	57364549	57364549	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	30	0	ENST00000439986.4:c.26G>T	p.Gly9Val	p.G9V	ENST00000439986	NM_133459.3	9	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS32838.1	26	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CTCCTCCCCGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000404464	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000439986	Transcript	.	.	ENSG00000183287	29426	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.186)	.	tolerated_low_confidence(0.15)	.	CCBE1_HUMAN	CCBE1	HGNC	K7EQ81_HUMAN	.	UPI000004C616	SNV	CCBE1,missense_variant,p.Gly9Val,ENST00000439986,;RP11-2N1.2,non_coding_transcript_exon_variant,,ENST00000588946,;	64	30	39	SUCCESS
FDX1L	0	.	GRCh37	19	10426560	10426560	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	69	0	ENST00000393708.3:c.113C>T	p.Ala38Val	p.A38V	ENST00000393708	NM_001031734.2	38	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32905.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGCCACC	NONE	.	.	hmmpanther:PTHR23426:SF1,hmmpanther:PTHR23426	.	.	ENSP00000377311	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000393708	Transcript	.	.	ENSG00000267673	30546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.31)	.	ADXL_HUMAN	FDX1L	HGNC	.	.	UPI0000227E29	SNV	FDX1L,missense_variant,p.Ala38Val,ENST00000393708,;FDX1L,missense_variant,p.Ala41Val,ENST00000541276,;FDX1L,intron_variant,,ENST00000494368,;RAVER1,downstream_gene_variant,,ENST00000293677,;RAVER1,downstream_gene_variant,,ENST00000585935,;FDX1L,upstream_gene_variant,,ENST00000492239,;CTD-2369P2.10,missense_variant,p.Ala38Val,ENST00000452032,;FDX1L,non_coding_transcript_exon_variant,,ENST00000453681,;FDX1L,non_coding_transcript_exon_variant,,ENST00000486454,;FDX1L,non_coding_transcript_exon_variant,,ENST00000460631,;FDX1L,non_coding_transcript_exon_variant,,ENST00000343376,;CTD-2369P2.12,intron_variant,,ENST00000586529,;RAVER1,downstream_gene_variant,,ENST00000592208,;RAVER1,downstream_gene_variant,,ENST00000593136,;CTD-2369P2.10,upstream_gene_variant,,ENST00000493771,;	132	69	60	SUCCESS
CALR	811	.	GRCh37	19	13054680	13054680	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	167	373	0	ENST00000316448.5:c.1207G>T	p.Glu403Ter	p.E403*	ENST00000316448	NM_004343.3	403	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12288.1	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF8,PIRSF_domain:PIRSF002356	.	.	ENSP00000320866	.	9/9	.	.	.	.	.	.	.	.	COSM1316098	9/9	PASS	ENST00000316448	Transcript	1	.	ENSG00000179218	1455	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CALR_HUMAN	CALR	HGNC	B4E2Y9_HUMAN	.	UPI000004CEC9	SNV	CALR,stop_gained,p.Glu403Ter,ENST00000316448,;CALR,intron_variant,,ENST00000586760,;RAD23A,upstream_gene_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000588454,;RAD23A,upstream_gene_variant,,ENST00000316856,;RAD23A,upstream_gene_variant,,ENST00000592268,;RAD23A,upstream_gene_variant,,ENST00000586534,;CTC-425F1.4,downstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;CALR,non_coding_transcript_exon_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000590325,;RAD23A,upstream_gene_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000587486,;RAD23A,upstream_gene_variant,,ENST00000591499,;CALR,upstream_gene_variant,,ENST00000586967,;RAD23A,upstream_gene_variant,,ENST00000593114,;RAD23A,upstream_gene_variant,,ENST00000586375,;	1280	374	328	SUCCESS
ZNF486	90649	.	GRCh37	19	20308237	20308237	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	47	85	0	ENST00000335117.8:c.718T>C	p.Cys240Arg	p.C240R	ENST00000335117	NM_052852.3	240	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS46029.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAATGTGAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95,PROSITE_profiles:PS50157	.	.	ENSP00000335042	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335117	Transcript	.	.	ENSG00000256229	20807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	ZN486_HUMAN	ZNF486	HGNC	Q59FB0_HUMAN	.	UPI00002376E8	SNV	ZNF486,missense_variant,p.Cys240Arg,ENST00000335117,;CTC-260E6.6,intron_variant,,ENST00000586657,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000585498,;	775	85	85	SUCCESS
ZNF429	353088	.	GRCh37	19	21720692	21720692	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	84	0	ENST00000358491.4:c.1837A>T	p.Lys613Ter	p.K613*	ENST00000358491	NM_001001415.2	613	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS42537.1	1837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGAAAATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF239,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000351280	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358491	Transcript	.	.	ENSG00000197013	20817	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN429_HUMAN	ZNF429	HGNC	.	.	UPI000022ABC2	SNV	ZNF429,stop_gained,p.Lys613Ter,ENST00000358491,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,;	2045	84	92	SUCCESS
DOT1L	84444	.	GRCh37	19	2217053	2217053	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	35	0	ENST00000398665.3:c.2508G>A	p.Gly836=	p.G836=	ENST00000398665	NM_032482.2	836	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42460.1	2508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGCCTT	NONE	.	.	hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,PIRSF_domain:PIRSF037123	.	.	ENSP00000381657	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,synonymous_variant,p.%3D,ENST00000398665,;DOT1L,downstream_gene_variant,,ENST00000586024,;AC004490.1,upstream_gene_variant,,ENST00000585593,;DOT1L,downstream_gene_variant,,ENST00000591498,;DOT1L,downstream_gene_variant,,ENST00000608122,;DOT1L,non_coding_transcript_exon_variant,,ENST00000482433,;DOT1L,downstream_gene_variant,,ENST00000472540,;	2544	35	38	SUCCESS
DOT1L	84444	.	GRCh37	19	2226716	2226716	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747161883	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	9	0	ENST00000398665.3:c.4196C>G	p.Pro1399Arg	p.P1399R	ENST00000398665	NM_032482.2	1399	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS42460.1	4196	RADIA|MUTECT	.	CGGGCCCACGG	NONE	.	.	hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,PIRSF_domain:PIRSF037123	.	.	ENSP00000381657	.	27/28	.	.	.	.	.	.	.	.	rs747161883	27/28	PASS	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.55)	.	deleterious_low_confidence(0)	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,missense_variant,p.Pro279Arg,ENST00000457590,;DOT1L,missense_variant,p.Pro1399Arg,ENST00000398665,;PLEKHJ1,downstream_gene_variant,,ENST00000587394,;DOT1L,upstream_gene_variant,,ENST00000446286,;DOT1L,downstream_gene_variant,,ENST00000482433,;	4232	9	9	SUCCESS
TLE6	79816	.	GRCh37	19	2989558	2989558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	61	0	ENST00000246112.4:c.1019G>A	p.Cys340Tyr	p.C340Y	ENST00000246112	NM_001143986.1	340	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS45910.1	1019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGCCTGC	NONE	.	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000246112	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000246112	Transcript	.	.	ENSG00000104953	30788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0)	.	TLE6_HUMAN	TLE6	HGNC	K7ENW8_HUMAN,C9J532_HUMAN	.	UPI000059D62B	SNV	TLE6,missense_variant,p.Cys340Tyr,ENST00000246112,;TLE6,missense_variant,p.Cys217Tyr,ENST00000452088,;TLE6,downstream_gene_variant,,ENST00000453329,;TLE6,non_coding_transcript_exon_variant,,ENST00000478073,;TLE6,downstream_gene_variant,,ENST00000591953,;TLE6,downstream_gene_variant,,ENST00000468176,;TLE6,non_coding_transcript_exon_variant,,ENST00000469572,;TLE6,non_coding_transcript_exon_variant,,ENST00000497878,;TLE6,downstream_gene_variant,,ENST00000474207,;	1220	61	48	SUCCESS
KRTDAP	388533	.	GRCh37	19	35979362	35979362	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	46	0	ENST00000338897.3:c.194A>G	p.Asn65Ser	p.N65S	ENST00000338897	NM_207392.2	65	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS12462.1	194	RADIA|VARSCANS	.	GCCAGTTCAGG	NONE	.	.	Pfam_domain:PF15200	.	.	ENSP00000339251	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000338897	Transcript	.	.	ENSG00000188508	16313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	KTDAP_HUMAN	KRTDAP	HGNC	.	.	UPI0000035979	SNV	KRTDAP,missense_variant,p.Asn65Ser,ENST00000338897,;KRTDAP,missense_variant,p.Asn51Ser,ENST00000484218,;KRTDAP,non_coding_transcript_exon_variant,,ENST00000479340,;	283	46	44	SUCCESS
ZNF571	51276	.	GRCh37	19	38056942	38056942	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs115914028	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	155	364	0	ENST00000328550.2:c.388C>T	p.Arg130Trp	p.R130W	ENST00000328550		130	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS12505.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCGATGAA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141	A:0.002	.	ENSP00000333660	A:0	4/5	.	.	.	.	.	.	.	.	rs115914028	4/5	PASS	ENST00000328550	Transcript	.	A:0.0004	ENSG00000180479	25000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	A:0	deleterious(0.01)	.	ZN571_HUMAN	ZNF571	HGNC	.	.	UPI000020220A	SNV	ZNF571,missense_variant,p.Arg130Trp,ENST00000593133,;ZNF571,missense_variant,p.Arg130Trp,ENST00000358744,;ZNF571,missense_variant,p.Arg130Trp,ENST00000451802,;ZNF571,missense_variant,p.Arg130Trp,ENST00000328550,;ZNF571,intron_variant,,ENST00000590751,;ZNF540,intron_variant,,ENST00000592533,;ZNF571,downstream_gene_variant,,ENST00000590390,;ZNF571-AS1,non_coding_transcript_exon_variant,,ENST00000587121,;ZNF571-AS1,non_coding_transcript_exon_variant,,ENST00000591430,;ZNF571-AS1,non_coding_transcript_exon_variant,,ENST00000590838,;ZNF571-AS1,non_coding_transcript_exon_variant,,ENST00000586139,;ZNF571-AS1,non_coding_transcript_exon_variant,,ENST00000585578,;ZNF571-AS1,non_coding_transcript_exon_variant,,ENST00000592392,;ZNF571-AS1,intron_variant,,ENST00000586013,;ZNF571-AS1,intron_variant,,ENST00000589750,;ZNF571-AS1,intron_variant,,ENST00000589802,;ZNF571-AS1,upstream_gene_variant,,ENST00000591177,;	488	364	336	SUCCESS
SERTAD1	29950	.	GRCh37	19	40929016	40929016	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	49	0	ENST00000357949.4:c.438G>T	p.Gly146=	p.G146=	ENST00000357949	NM_013376.3	146	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12557.1	438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCCCGAT	NONE	.	.	hmmpanther:PTHR16277,hmmpanther:PTHR16277:SF12	.	.	ENSP00000350633	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357949	Transcript	.	.	ENSG00000197019	17932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRTD1_HUMAN	SERTAD1	HGNC	Q53GC0_HUMAN	.	UPI000006F397	SNV	SERTAD1,synonymous_variant,p.%3D,ENST00000357949,;	597	49	32	SUCCESS
POU2F2	5452	.	GRCh37	19	42636560	42636560	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	38	53	0	ENST00000526816.2:c.4G>T	p.Val2Phe	p.V2F	ENST00000526816		2	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS56095.1	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAACCATGC	NONE	.	.	.	.	.	ENSP00000431603	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000526816	Transcript	.	.	ENSG00000028277	9213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated_low_confidence(0.06)	.	PO2F2_HUMAN	POU2F2	HGNC	Q9UMJ4_HUMAN,Q9UMI6_HUMAN	.	UPI0000186851	SNV	POU2F2,missense_variant,p.Val2Phe,ENST00000560398,;POU2F2,missense_variant,p.Val2Phe,ENST00000526816,;POU2F2,missense_variant,p.Val2Phe,ENST00000533720,;POU2F2,missense_variant,p.Val2Phe,ENST00000529952,;POU2F2,missense_variant,p.Val2Phe,ENST00000389341,;POU2F2,missense_variant,p.Val2Phe,ENST00000342301,;POU2F2,missense_variant,p.Val2Phe,ENST00000560558,;POU2F2,missense_variant,p.Val2Phe,ENST00000529067,;POU2F2,upstream_gene_variant,,ENST00000560804,;POU2F2,upstream_gene_variant,,ENST00000528894,;MIR4323,downstream_gene_variant,,ENST00000582929,;CTC-378H22.1,upstream_gene_variant,,ENST00000531517,;CTC-378H22.1,upstream_gene_variant,,ENST00000527895,;POU2F2,intron_variant,,ENST00000532176,;POU2F2,intron_variant,,ENST00000524801,;POU2F2,missense_variant,p.Val2Phe,ENST00000534559,;POU2F2,non_coding_transcript_exon_variant,,ENST00000530982,;	20	53	79	SUCCESS
ZNF285	26974	.	GRCh37	19	44890851	44890851	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	188	461	0	ENST00000330997.4:c.1556A>C	p.Lys519Thr	p.K519T	ENST00000330997	NM_152354.3	519	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS12638.1	1556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTTTACCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF173,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000333595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330997	Transcript	.	.	ENSG00000267508	13079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZN285_HUMAN	ZNF285	HGNC	K7ERT5_HUMAN	.	UPI0000456CDE	SNV	ZNF285,missense_variant,p.Lys526Thr,ENST00000591679,;ZNF285,missense_variant,p.Lys519Thr,ENST00000544719,;ZNF285,missense_variant,p.Lys519Thr,ENST00000330997,;CTC-512J12.6,intron_variant,,ENST00000588212,;ZNF285,downstream_gene_variant,,ENST00000585868,;ZNF285,downstream_gene_variant,,ENST00000589738,;	1621	461	381	SUCCESS
IZUMO1	284359	.	GRCh37	19	49248991	49248991	+	synonymous_variant	Silent	SNP	A	A	G	rs755793202	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	137	337	0	ENST00000332955.2:c.126T>C	p.Pro42=	p.P42=	ENST00000332955	NM_182575.2	42	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS12732.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCAGGCAG	NONE	.	.	Pfam_domain:PF15005	.	.	ENSP00000327786	.	2/10	.	.	.	.	.	.	.	.	rs755793202	2/10	PASS	ENST00000332955	Transcript	.	.	ENSG00000182264	28539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IZUM1_HUMAN	IZUMO1	HGNC	.	.	UPI00001609C7	SNV	IZUMO1,synonymous_variant,p.%3D,ENST00000332955,;IZUMO1,intron_variant,,ENST00000602105,;FUT1,downstream_gene_variant,,ENST00000310160,;IZUMO1,synonymous_variant,p.%3D,ENST00000595517,;IZUMO1,synonymous_variant,p.%3D,ENST00000595937,;IZUMO1,non_coding_transcript_exon_variant,,ENST00000597553,;IZUMO1,upstream_gene_variant,,ENST00000599871,;	674	337	306	SUCCESS
IL4I1	259307	.	GRCh37	19	50393089	50393089	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	146	0	ENST00000391826.2:c.1542G>A	p.Thr514=	p.T514=	ENST00000391826	NM_152899.1	514	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12786.1	1608	MUTECT|MUSE	.	CTGGCCGTGTC	NONE	.	.	.	.	.	ENSP00000472474	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000595948	Transcript	.	.	ENSG00000104951	19094	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OXLA_HUMAN	IL4I1	HGNC	M0R1L1_HUMAN	.	UPI00001678CE	SNV	IL4I1,synonymous_variant,p.%3D,ENST00000341114,;IL4I1,synonymous_variant,p.%3D,ENST00000595948,;IL4I1,synonymous_variant,p.%3D,ENST00000391826,;TBC1D17,downstream_gene_variant,,ENST00000599049,;TBC1D17,downstream_gene_variant,,ENST00000535102,;IL4I1,downstream_gene_variant,,ENST00000593956,;TBC1D17,downstream_gene_variant,,ENST00000221543,;MIR4750,downstream_gene_variant,,ENST00000584564,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;TBC1D17,downstream_gene_variant,,ENST00000594984,;TBC1D17,downstream_gene_variant,,ENST00000600354,;TBC1D17,downstream_gene_variant,,ENST00000596243,;	2229	146	111	SUCCESS
KLK6	5653	.	GRCh37	19	51465087	51465087	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	56	104	0	ENST00000310157.2:c.495T>A	p.Arg165=	p.R165=	ENST00000310157	NM_002774.3	165	cgT/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12811.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCACGGGA	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24271:SF19,hmmpanther:PTHR24271,PROSITE_profiles:PS50240	.	.	ENSP00000366047	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000376851	Transcript	.	.	ENSG00000167755	6367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLK6_HUMAN	KLK6	HGNC	.	.	UPI000004CA06	SNV	KLK6,synonymous_variant,p.%3D,ENST00000310157,;KLK6,synonymous_variant,p.%3D,ENST00000456750,;KLK6,synonymous_variant,p.%3D,ENST00000376851,;KLK6,synonymous_variant,p.%3D,ENST00000594641,;KLK6,synonymous_variant,p.%3D,ENST00000391808,;KLK6,intron_variant,,ENST00000376853,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,intron_variant,,ENST00000601506,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;KLK6,3_prime_UTR_variant,,ENST00000599690,;KLK6,3_prime_UTR_variant,,ENST00000597379,;KLK6,3_prime_UTR_variant,,ENST00000599881,;	935	104	132	SUCCESS
KLK8	11202	.	GRCh37	19	51503358	51503358	+	synonymous_variant	Silent	SNP	C	C	T	rs771272333	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	47	91	0	ENST00000600767.1:c.387G>A	p.Gln129=	p.Q129=	ENST00000600767		129	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS42600.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCCTGGTC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF7,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000375682	.	4/6	.	.	.	.	.	.	.	.	rs771272333	4/6	PASS	ENST00000391806	Transcript	.	.	ENSG00000129455	6369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLK8_HUMAN	KLK8	HGNC	B3FQ95_HUMAN	.	UPI000002ACDB	SNV	KLK8,synonymous_variant,p.%3D,ENST00000291726,;KLK8,synonymous_variant,p.%3D,ENST00000391806,;KLK8,synonymous_variant,p.%3D,ENST00000600767,;KLK8,intron_variant,,ENST00000347619,;KLK8,intron_variant,,ENST00000320838,;KLK8,intron_variant,,ENST00000593490,;KLK9,downstream_gene_variant,,ENST00000376832,;KLK9,downstream_gene_variant,,ENST00000594211,;KLK8,downstream_gene_variant,,ENST00000595238,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK8,3_prime_UTR_variant,,ENST00000594669,;KLK9,intron_variant,,ENST00000599166,;KLK9,downstream_gene_variant,,ENST00000250366,;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594914,;KLK8,downstream_gene_variant,,ENST00000599710,;	603	91	88	SUCCESS
IGLON5	402665	.	GRCh37	19	51830117	51830117	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1478891688	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	55	0	ENST00000270642.8:c.611C>T	p.Ala204Val	p.A204V	ENST00000270642	NM_001101372.1	204	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46158.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGCGCCCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF9,hmmpanther:PTHR19831,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000270642	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000270642	Transcript	.	.	ENSG00000142549	34550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.3)	.	IGLO5_HUMAN	IGLON5	HGNC	.	.	UPI000058F1A8	SNV	IGLON5,missense_variant,p.Ala204Val,ENST00000270642,;VSIG10L,downstream_gene_variant,,ENST00000335624,;VSIG10L,downstream_gene_variant,,ENST00000600663,;	611	55	59	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51961640	51961640	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	45	81	0	ENST00000321424.3:c.2T>A	p.Met1?	p.M1?	ENST00000321424	NM_014442.2	1	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS33086.1	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCATGTCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000321077	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,start_lost,p.Met1?,ENST00000340550,;SIGLEC8,start_lost,p.Met1?,ENST00000321424,;SIGLEC8,start_lost,p.Met1?,ENST00000430817,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;	69	81	93	SUCCESS
ZNF835	90485	.	GRCh37	19	57176266	57176266	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	25	23	0	ENST00000537055.2:c.301del	p.Glu101ArgfsTer53	p.E101Rfs*53	ENST00000537055	NM_001005850.2	101	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS56105.1	301	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTCTCCCGCT	NONE	.	.	.	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	deletion	ZNF835,frameshift_variant,p.Glu101ArgfsTer53,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	533	23	50	SUCCESS
TIMM44	10469	.	GRCh37	19	7996055	7996055	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	78	327	0	ENST00000270538.3:c.1006C>G	p.Leu336Val	p.L336V	ENST00000270538	NM_006351.3	336	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS12192.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAGCTCTC	NONE	.	.	hmmpanther:PTHR10721,TIGRFAM_domain:TIGR00984,Pfam_domain:PF04280,PIRSF_domain:PIRSF037871,SMART_domains:SM00978,Superfamily_domains:SSF54427	.	.	ENSP00000270538	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000270538	Transcript	.	.	ENSG00000104980	17316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	deleterious(0)	.	TIM44_HUMAN	TIMM44	HGNC	Q6AI07_HUMAN	.	UPI000012D5E2	SNV	TIMM44,missense_variant,p.Leu336Val,ENST00000270538,;TIMM44,missense_variant,p.Leu47Val,ENST00000595565,;TIMM44,downstream_gene_variant,,ENST00000597926,;CTD-3193O13.8,downstream_gene_variant,,ENST00000594308,;TIMM44,non_coding_transcript_exon_variant,,ENST00000598968,;TIMM44,3_prime_UTR_variant,,ENST00000595876,;TIMM44,3_prime_UTR_variant,,ENST00000595831,;TIMM44,non_coding_transcript_exon_variant,,ENST00000598481,;TIMM44,non_coding_transcript_exon_variant,,ENST00000599650,;TIMM44,downstream_gene_variant,,ENST00000600748,;TIMM44,upstream_gene_variant,,ENST00000599939,;TIMM44,downstream_gene_variant,,ENST00000598675,;	1275	327	232	SUCCESS
ELAVL1	1994	.	GRCh37	19	8028565	8028565	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	93	202	0	ENST00000351593.5:c.864G>T	p.Trp288Cys	p.W288C	ENST00000351593		288	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS12193.1	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCCAGAG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF228,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000385269	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000407627	Transcript	.	.	ENSG00000066044	3312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ELAV1_HUMAN	ELAVL1	HGNC	.	.	UPI0000129E74	SNV	ELAVL1,missense_variant,p.Trp288Cys,ENST00000351593,;ELAVL1,missense_variant,p.Trp261Cys,ENST00000407627,;ELAVL1,missense_variant,p.Trp261Cys,ENST00000596459,;ELAVL1,3_prime_UTR_variant,,ENST00000593807,;ELAVL1,intron_variant,,ENST00000596154,;CTD-3193O13.14,downstream_gene_variant,,ENST00000595107,;	913	202	164	SUCCESS
MUC16	94025	.	GRCh37	19	9045850	9045853	+	frameshift_variant	Frame_Shift_Del	DEL	AGTT	AGTT	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	AGTT	AGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	130	91	293	0	ENST00000397910.4:c.35778_35781del	p.Thr11927GlnfsTer16	p.T11927Qfs*16	ENST00000397910	NM_024690.2	11926	gtAACT/gt	0	.	.	.	.	.	-	VT/X	protein_coding	YES	CCDS54212.1	35778-35781	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTGAAGTTACAGA	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	deletion	MUC16,frameshift_variant,p.Thr11927GlnfsTer16,ENST00000397910,;	35982-35985	293	221	SUCCESS
FAM102B	284611	.	GRCh37	1	109148855	109148855	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	105	327	0	ENST00000370035.3:c.269G>C	p.Gly90Ala	p.G90A	ENST00000370035	NM_001010883.2	90	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS30786.2	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGTGGAA	NONE	.	.	hmmpanther:PTHR21456:SF3,hmmpanther:PTHR21456,Pfam_domain:PF10358	.	.	ENSP00000359052	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000370035	Transcript	.	.	ENSG00000162636	27637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	F102B_HUMAN	FAM102B	HGNC	.	.	UPI00001D7585	SNV	FAM102B,missense_variant,p.Gly90Ala,ENST00000370035,;FAM102B,missense_variant,p.Gly90Ala,ENST00000405454,;	609	327	249	SUCCESS
MXRA8	54587	.	GRCh37	1	1289296	1289296	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs532502120	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	40	73	0	ENST00000309212.6:c.1235A>T	p.Asn412Ile	p.N412I	ENST00000309212	NM_032348.2	412	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS24.1	1235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTTGTTT	NONE	.	.	hmmpanther:PTHR12231:SF30,hmmpanther:PTHR12231	.	.	ENSP00000307887	.	9/10	.	.	.	.	.	.	.	.	rs532502120	9/10	PASS	ENST00000309212	Transcript	.	.	ENSG00000162576	7542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MXRA8_HUMAN	MXRA8	HGNC	.	.	UPI000003ED26	SNV	MXRA8,missense_variant,p.Asn311Ile,ENST00000342753,;MXRA8,missense_variant,p.Asn418Ile,ENST00000445648,;MXRA8,missense_variant,p.Asn403Ile,ENST00000477278,;MXRA8,missense_variant,p.Asn412Ile,ENST00000309212,;DVL1,upstream_gene_variant,,ENST00000378891,;DVL1,upstream_gene_variant,,ENST00000378888,;MXRA8,non_coding_transcript_exon_variant,,ENST00000474033,;MXRA8,non_coding_transcript_exon_variant,,ENST00000473097,;MXRA8,non_coding_transcript_exon_variant,,ENST00000476718,;MXRA8,non_coding_transcript_exon_variant,,ENST00000478517,;MXRA8,downstream_gene_variant,,ENST00000464351,;MXRA8,downstream_gene_variant,,ENST00000460473,;DVL1,upstream_gene_variant,,ENST00000472445,;	1266	73	77	SUCCESS
DNM3	26052	.	GRCh37	1	172277988	172277988	+	intron_variant	Intron	SNP	G	G	T	rs749334884	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	54	84	0	ENST00000355305.5:c.1911+9G>T		p.*637*	ENST00000355305				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53431.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGATATA	NONE	.	.	.	.	.	ENSP00000350876	.	.	.	.	.	.	.	.	.	.	rs749334884	.	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODIFIER	16/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Trp630Cys,ENST00000520906,;DNM3,intron_variant,,ENST00000367731,;DNM3,intron_variant,,ENST00000355305,;DNM3,intron_variant,,ENST00000358155,;	.	84	87	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17991069	17991069	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	47	0	ENST00000361221.3:c.2988A>C	p.Glu996Asp	p.E996D	ENST00000361221	NM_018125.3	996	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS182.1	2988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAAGCCAC	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000355060	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,missense_variant,p.Glu957Asp,ENST00000375415,;ARHGEF10L,missense_variant,p.Glu996Asp,ENST00000361221,;ARHGEF10L,missense_variant,p.Glu991Asp,ENST00000434513,;ARHGEF10L,missense_variant,p.Glu769Asp,ENST00000375408,;ARHGEF10L,missense_variant,p.Glu699Asp,ENST00000167825,;ARHGEF10L,missense_variant,p.Glu957Asp,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	3147	47	51	SUCCESS
CACNA1S	779	.	GRCh37	1	201046155	201046155	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773440873	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	360	373	1	ENST00000362061.3:c.1720G>A	p.Ala574Thr	p.A574T	ENST00000362061	NM_000069.2	574	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1407.1	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGAAGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	12/44	.	.	.	.	.	.	.	.	rs773440873	12/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Ala574Thr,ENST00000367338,;CACNA1S,missense_variant,p.Ala574Thr,ENST00000362061,;	1947	374	575	SUCCESS
CR1	1378	.	GRCh37	1	207760833	207760833	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	222	590	1	ENST00000367051.1:c.4283C>T	p.Pro1428Leu	p.P1428L	ENST00000367051		1428	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44308.1	5633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCCTGGGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	34/47	.	.	.	.	.	.	.	.	.	34/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.805)	.	deleterious(0)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Pro1428Leu,ENST00000367051,;CR1,missense_variant,p.Pro1428Leu,ENST00000400960,;CR1,missense_variant,p.Pro1428Leu,ENST00000367052,;CR1,missense_variant,p.Pro1878Leu,ENST00000367049,;CR1,missense_variant,p.Pro978Leu,ENST00000534202,;CR1,missense_variant,p.Pro1428Leu,ENST00000367053,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000596003,;RP11-78B10.2,intron_variant,,ENST00000597497,;	5633	591	483	SUCCESS
ACTN2	88	.	GRCh37	1	236881238	236881238	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	138	356	0	ENST00000366578.4:c.207C>A	p.Gly69=	p.G69=	ENST00000366578	NM_001278344.1	69	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1613.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCCTTAA	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,PROSITE_profiles:PS50021	.	.	ENSP00000355537	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,synonymous_variant,p.%3D,ENST00000542672,;ACTN2,synonymous_variant,p.%3D,ENST00000366578,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	373	356	310	SUCCESS
RP11-193H5.2	0	.	GRCh37	1	238090313	238090313	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	32	53	0	ENST00000450208.1:n.183G>C		p.*61*	ENST00000450208				0	.	.	.	.	.	C	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAGCCGGC	NONE	.	.	.	.	.	.	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000450451	Transcript	.	.	ENSG00000237250	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-193H5.1	Clone_based_vega_gene	.	.	.	SNV	RP11-193H5.1,non_coding_transcript_exon_variant,,ENST00000450451,;RP11-193H5.2,non_coding_transcript_exon_variant,,ENST00000450208,;	1819	53	55	SUCCESS
MAST2	23139	.	GRCh37	1	46500283	46500283	+	synonymous_variant	Silent	SNP	A	A	G	rs139679191	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	16	167	0	ENST00000361297.2:c.3942A>G	p.Thr1314=	p.T1314=	ENST00000361297	NM_015112.2	1314	acA/acG	0	.	T:0.0015	.	T:0	.	G	T	protein_coding	YES	CCDS41326.1	3942	MUTECT|MUSE	.	CACACACGGCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356	T:0	.	ENSP00000354671	T:0	29/29	.	.	.	.	.	.	.	.	rs139679191	29/29	PASS	ENST00000361297	Transcript	.	T:0.0004	ENSG00000086015	19035	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,synonymous_variant,p.%3D,ENST00000361297,;MAST2,intron_variant,,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,downstream_gene_variant,,ENST00000492813,;MAST2,downstream_gene_variant,,ENST00000477968,;	4225	167	249	SUCCESS
TTC39A	22996	.	GRCh37	1	51761791	51761791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	32	0	ENST00000447632.2:c.1213G>T	p.Asp405Tyr	p.D405Y	ENST00000447632		405	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS44143.1	1117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCCTCCT	NONE	.	.	Pfam_domain:PF10300,hmmpanther:PTHR31859:SF3,hmmpanther:PTHR31859	.	.	ENSP00000406144	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000413473	Transcript	.	.	ENSG00000085831	18657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	TT39A_HUMAN	TTC39A	HGNC	E9PHX9_HUMAN,E9PAZ4_HUMAN,D3DQ30_HUMAN	.	UPI0000252149	SNV	TTC39A,missense_variant,p.Asp405Tyr,ENST00000447632,;TTC39A,missense_variant,p.Asp373Tyr,ENST00000413473,;TTC39A,missense_variant,p.Asp13Tyr,ENST00000525906,;TTC39A,missense_variant,p.Asp342Tyr,ENST00000262675,;TTC39A,missense_variant,p.Asp13Tyr,ENST00000530004,;TTC39A,missense_variant,p.Asp369Tyr,ENST00000451380,;TTC39A,missense_variant,p.Asp404Tyr,ENST00000371747,;TTC39A,missense_variant,p.Asp370Tyr,ENST00000371750,;TTC39A,downstream_gene_variant,,ENST00000262676,;TTC39A,non_coding_transcript_exon_variant,,ENST00000431927,;TTC39A,intron_variant,,ENST00000534098,;	1190	32	42	SUCCESS
ELTD1	0	.	GRCh37	1	79412048	79412048	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	172	395	0	ENST00000370742.3:c.236A>G	p.Glu79Gly	p.E79G	ENST00000370742	NM_022159.3	79	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41352.1	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTTCTGTG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000359778	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated_low_confidence(0.13)	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Glu79Gly,ENST00000370742,;	300	395	352	SUCCESS
ZNF326	284695	.	GRCh37	1	90486427	90486427	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	202	558	0	ENST00000340281.4:c.1251A>G	p.Leu417=	p.L417=	ENST00000340281	NM_182976.2	417	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS727.1	1251	RADIA|MUTECT|MUSE	.	GCTTTACATAG	NONE	.	.	hmmpanther:PTHR12190:SF1,hmmpanther:PTHR12190,Pfam_domain:PF04988	.	.	ENSP00000340796	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000340281	Transcript	.	.	ENSG00000162664	14104	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN326_HUMAN	ZNF326	HGNC	.	.	UPI0000160AB2	SNV	ZNF326,synonymous_variant,p.%3D,ENST00000455342,;ZNF326,synonymous_variant,p.%3D,ENST00000370447,;ZNF326,synonymous_variant,p.%3D,ENST00000340281,;ZNF326,3_prime_UTR_variant,,ENST00000394583,;	1394	558	463	SUCCESS
ZFP64	55734	.	GRCh37	20	50701265	50701265	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs767172743	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	45	68	0	ENST00000361387.2:c.1769T>G	p.Val590Gly	p.V590G	ENST00000361387	NM_199427.2	590	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	.	CCDS13439.1	1769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGACGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24403:SF27,hmmpanther:PTHR24403,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000355179	.	9/9	.	.	.	.	.	.	.	.	rs767172743	9/9	PASS	ENST00000361387	Transcript	.	.	ENSG00000020256	15940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	tolerated(0.36)	.	ZF64B_HUMAN	ZFP64	HGNC	.	.	UPI000013C56C	SNV	ZFP64,missense_variant,p.Val590Gly,ENST00000361387,;ZFP64,missense_variant,p.Val371Gly,ENST00000371523,;ZFP64,intron_variant,,ENST00000371518,;ZFP64,downstream_gene_variant,,ENST00000395989,;ZFP64,downstream_gene_variant,,ENST00000456175,;ZFP64,downstream_gene_variant,,ENST00000477786,;ZFP64,downstream_gene_variant,,ENST00000467811,;	1830	68	82	SUCCESS
PMEPA1	56937	.	GRCh37	20	56227370	56227370	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	15	0	ENST00000341744.3:c.603G>A	p.Arg201=	p.R201=	ENST00000341744	NM_020182.4	201	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13463.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCTGGC	NONE	.	.	hmmpanther:PTHR16514,hmmpanther:PTHR16514:SF5	.	.	ENSP00000345826	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000341744	Transcript	.	.	ENSG00000124225	14107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMEPA_HUMAN	PMEPA1	HGNC	.	.	UPI000004970A	SNV	PMEPA1,synonymous_variant,p.%3D,ENST00000265626,;PMEPA1,synonymous_variant,p.%3D,ENST00000341744,;PMEPA1,synonymous_variant,p.%3D,ENST00000395816,;PMEPA1,synonymous_variant,p.%3D,ENST00000347215,;PMEPA1,synonymous_variant,p.%3D,ENST00000395814,;PMEPA1,synonymous_variant,p.%3D,ENST00000414037,;PMEPA1,downstream_gene_variant,,ENST00000395819,;	923	15	26	SUCCESS
MYT1	4661	.	GRCh37	20	62839764	62839764	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	47	0	ENST00000328439.1:c.1215G>T	p.Gln405His	p.Q405H	ENST00000328439	NM_004535.2	405	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS13558.1	1215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGAGCCA	NONE	.	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	.	.	ENSP00000327465	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,missense_variant,p.Gln405His,ENST00000536311,;MYT1,missense_variant,p.Gln405His,ENST00000328439,;MYT1,intron_variant,,ENST00000360149,;	1579	47	58	SUCCESS
DSCAM	1826	.	GRCh37	21	41505791	41505791	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	55	148	0	ENST00000400454.1:c.3552C>A	p.Thr1184=	p.T1184=	ENST00000400454	NM_001271534.1	1184	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42929.1	3552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTGGTCCG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000383303	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,synonymous_variant,p.%3D,ENST00000404019,;DSCAM,synonymous_variant,p.%3D,ENST00000400454,;	4030	148	139	SUCCESS
CABIN1	23523	.	GRCh37	22	24472172	24472172	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	135	238	0	ENST00000263119.5:c.2687A>T	p.His896Leu	p.H896L	ENST00000263119	NM_012295.3	896	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS13823.1	2687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCACGAGT	NONE	.	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.His896Leu,ENST00000398319,;CABIN1,missense_variant,p.His846Leu,ENST00000405822,;CABIN1,missense_variant,p.His896Leu,ENST00000263119,;	3072	238	265	SUCCESS
MYO18B	84700	.	GRCh37	22	26423432	26423432	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	63	0	ENST00000536101.1:c.7492C>T	p.Pro2498Ser	p.P2498S	ENST00000536101		2498	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS54507.1	7492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGCCCAAG	NONE	.	.	.	.	.	ENSP00000334563	.	43/44	.	.	.	.	.	.	.	.	.	43/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(1)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Pro2498Ser,ENST00000335473,;MYO18B,missense_variant,p.Pro448Ser,ENST00000543971,;MYO18B,missense_variant,p.Pro2499Ser,ENST00000407587,;MYO18B,missense_variant,p.Pro2498Ser,ENST00000536101,;MYO18B,missense_variant,p.Pro140Ser,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	7742	63	57	SUCCESS
SMTN	6525	.	GRCh37	22	31487025	31487025	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	105	239	0	ENST00000347557.2:c.1016C>G	p.Ser339Cys	p.S339C	ENST00000347557	NM_001207017.1	339	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS13887.1	1016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCTGATT	NONE	.	.	hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915	.	.	ENSP00000351593	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000358743	Transcript	.	.	ENSG00000183963	11126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	deleterious(0)	.	SMTN_HUMAN	SMTN	HGNC	C9JP19_HUMAN,C9JGQ0_HUMAN	.	UPI00001B0272	SNV	SMTN,missense_variant,p.Ser339Cys,ENST00000333137,;SMTN,missense_variant,p.Ser339Cys,ENST00000358743,;SMTN,missense_variant,p.Ser339Cys,ENST00000347557,;SMTN,downstream_gene_variant,,ENST00000432777,;SMTN,upstream_gene_variant,,ENST00000455608,;SMTN,downstream_gene_variant,,ENST00000416786,;SMTN,downstream_gene_variant,,ENST00000440425,;SMTN,downstream_gene_variant,,ENST00000426927,;SMTN,downstream_gene_variant,,ENST00000438223,;SMTN,upstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000422839,;SMTN,downstream_gene_variant,,ENST00000431481,;SMTN,downstream_gene_variant,,ENST00000475548,;SMTN,downstream_gene_variant,,ENST00000482444,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,downstream_gene_variant,,ENST00000466272,;SMTN,downstream_gene_variant,,ENST00000497697,;SMTN,upstream_gene_variant,,ENST00000493335,;	1234	239	242	SUCCESS
DEPDC5	9681	.	GRCh37	22	32211485	32211485	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	40	0	ENST00000400246.1:c.1666+287C>T		p.*556*	ENST00000400246				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46692.1	.	MUTECT|MUSE	.	CCCACCTCTGC	NONE	.	.	.	.	.	ENSP00000371546	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODIFIER	20/41	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,3_prime_UTR_variant,,ENST00000400242,;DEPDC5,intron_variant,,ENST00000382105,;DEPDC5,intron_variant,,ENST00000266091,;DEPDC5,intron_variant,,ENST00000400248,;DEPDC5,intron_variant,,ENST00000382112,;DEPDC5,intron_variant,,ENST00000400246,;DEPDC5,intron_variant,,ENST00000382111,;DEPDC5,intron_variant,,ENST00000535622,;DEPDC5,intron_variant,,ENST00000536766,;DEPDC5,intron_variant,,ENST00000400249,;DEPDC5,upstream_gene_variant,,ENST00000433147,;DEPDC5,upstream_gene_variant,,ENST00000448753,;CTA-440B3.1,downstream_gene_variant,,ENST00000429025,;	.	40	22	SUCCESS
RGPD4	285190	.	GRCh37	2	108487515	108487515	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs766321992	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	301	114	370	0	ENST00000408999.3:c.3056del	p.Gly1019ValfsTer23	p.G1019Vfs*23	ENST00000408999	NM_182588.2	1019	Ggt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS46381.1	3055	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTCCGGTGAC	BUFFER|p.G1019S|c.3055G>A|3	byFrequency	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	rs766321992,COSM1005007,COSM3564936	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	1	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	deletion	RGPD4,frameshift_variant,p.Gly1019ValfsTer23,ENST00000408999,;RGPD4,frameshift_variant,p.Gly1019ValfsTer23,ENST00000354986,;	3132	370	415	SUCCESS
LRP1B	53353	.	GRCh37	2	142567848	142567848	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	159	502	0	ENST00000389484.3:c.205T>A	p.Cys69Ser	p.C69S	ENST00000389484	NM_018557.2	69	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS2182.1	205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGGTAT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	2/91	.	.	.	.	.	.	.	.	.	2/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.415)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Cys69Ser,ENST00000389484,;LRP1B,missense_variant,p.Ser69Thr,ENST00000434794,;LRP1B,splice_region_variant,,ENST00000486364,;	1177	503	349	SUCCESS
EPC2	26122	.	GRCh37	2	149519486	149519486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	128	490	0	ENST00000258484.6:c.802G>T	p.Val268Phe	p.V268F	ENST00000258484	NM_015630.3	268	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS46422.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAGTTGTG	BUFFER|p.E270G|c.809A>G|3	.	.	hmmpanther:PTHR14898:SF1,hmmpanther:PTHR14898	.	.	ENSP00000258484	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000258484	Transcript	.	.	ENSG00000135999	24543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	EPC2_HUMAN	EPC2	HGNC	Q53SN6_HUMAN,Q53SL1_HUMAN,E7ETK1_HUMAN,C9J1X4_HUMAN	.	UPI00005A7FE2	SNV	EPC2,missense_variant,p.Val268Phe,ENST00000258484,;EPC2,downstream_gene_variant,,ENST00000397424,;EPC2,non_coding_transcript_exon_variant,,ENST00000491099,;	836	490	316	SUCCESS
TTN	7273	.	GRCh37	2	179463285	179463285	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	141	367	0	ENST00000591111.1:c.52136T>A	p.Val17379Glu	p.V17379E	ENST00000591111		17379	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS59435.1	57059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTACTTTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	292/363	.	.	.	.	.	.	.	.	.	292/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val10080Glu,ENST00000359218,;TTN,missense_variant,p.Val17379Glu,ENST00000591111,;TTN,missense_variant,p.Val19020Glu,ENST00000589042,;TTN,missense_variant,p.Val10147Glu,ENST00000342175,;TTN,missense_variant,p.Val16452Glu,ENST00000342992,;TTN,missense_variant,p.Val9955Glu,ENST00000460472,;TTN-AS1,splice_region_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,upstream_gene_variant,,ENST00000589487,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;	57284	367	342	SUCCESS
TTN	7273	.	GRCh37	2	179470150	179470150	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	81	229	0	ENST00000591111.1:c.48949G>A	p.Asp16317Asn	p.D16317N	ENST00000591111		16317	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS59435.1	53872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCTTGTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	279/363	.	.	.	.	.	.	.	.	.	279/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp9018Asn,ENST00000359218,;TTN,missense_variant,p.Asp16317Asn,ENST00000591111,;TTN,missense_variant,p.Asp17958Asn,ENST00000589042,;TTN,missense_variant,p.Asp15390Asn,ENST00000342992,;TTN,missense_variant,p.Asp9085Asn,ENST00000342175,;TTN,missense_variant,p.Asp8893Asn,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	54097	229	167	SUCCESS
MAP2	4133	.	GRCh37	2	210559239	210559239	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs184529696	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	43	107	0	ENST00000360351.4:c.2345C>A	p.Ala782Glu	p.A782E	ENST00000360351	NM_002374.3	782	gCg/gAg	0	T:0	T:0	.	T:0.0029	.	A	A/E	protein_coding	YES	CCDS2384.1	2345	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGCGGAGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	T:0.0188	T:0.0001	ENSP00000353508	T:0	7/15	.	.	.	.	.	.	.	.	rs184529696	7/15	PASS	ENST00000360351	Transcript	.	T:0.0042	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.678)	T:0	tolerated(0.05)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Ala778Glu,ENST00000447185,;MAP2,missense_variant,p.Ala782Glu,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	2851	107	84	SUCCESS
APOB	338	.	GRCh37	2	21228142	21228157	+	frameshift_variant	Frame_Shift_Del	DEL	GGAGGGAATCTCAATG	GGAGGGAATCTCAATG	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	GGAGGGAATCTCAATG	GGAGGGAATCTCAATG	.	.	.	.	.	.	.	.	.	.	.	.	.	83	31	204	0	ENST00000233242.1:c.11583_11598del	p.Ile3862LeufsTer17	p.I3862Lfs*17	ENST00000233242	NM_000384.2	3861	acCATTGAGATTCCCTCC/ac	0	.	.	.	.	.	-	TIEIPS/X	protein_coding	YES	CCDS1703.1	11583-11598	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTAATGGAGGGAATCTCAATGGTCTG	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Ile3862LeufsTer17,ENST00000233242,;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	11711-11726	204	114	SUCCESS
EPHA4	2043	.	GRCh37	2	222347238	222347238	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	118	335	0	ENST00000281821.2:c.1152C>A	p.Val384=	p.V384=	ENST00000281821	NM_004438.3	384	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2447.1	1152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGGACCCC	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000281821	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,synonymous_variant,p.%3D,ENST00000281821,;EPHA4,synonymous_variant,p.%3D,ENST00000441679,;EPHA4,synonymous_variant,p.%3D,ENST00000409854,;EPHA4,synonymous_variant,p.%3D,ENST00000443796,;EPHA4,synonymous_variant,p.%3D,ENST00000392071,;EPHA4,synonymous_variant,p.%3D,ENST00000409938,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	1194	335	264	SUCCESS
SP110	3431	.	GRCh37	2	231079722	231079722	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs777870813	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	91	215	0	ENST00000358662.4:c.259C>G	p.Gln87Glu	p.Q87E	ENST00000358662	NM_004509.3	87	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS2475.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTGACTGA	NONE	.	.	PROSITE_profiles:PS51414,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46,Pfam_domain:PF03172	.	.	ENSP00000258381	.	3/19	.	.	.	.	.	.	.	.	rs777870813	3/19	PASS	ENST00000258381	Transcript	.	.	ENSG00000135899	5401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious(0.01)	.	SP110_HUMAN	SP110	HGNC	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN	.	UPI000013CFC9	SNV	SP110,missense_variant,p.Gln87Glu,ENST00000409815,;SP110,missense_variant,p.Gln41Glu,ENST00000455674,;SP110,missense_variant,p.Gln87Glu,ENST00000392048,;SP110,missense_variant,p.Gln87Glu,ENST00000358662,;SP110,missense_variant,p.Gln87Glu,ENST00000258381,;SP110,missense_variant,p.Gln87Glu,ENST00000416610,;SP110,missense_variant,p.Gln87Glu,ENST00000258382,;SP110,missense_variant,p.Gln93Glu,ENST00000540870,;SP110,5_prime_UTR_variant,,ENST00000338556,;SP140,intron_variant,,ENST00000456542,;SP110,non_coding_transcript_exon_variant,,ENST00000462232,;SP110,upstream_gene_variant,,ENST00000486146,;SP140,downstream_gene_variant,,ENST00000441657,;SP110,upstream_gene_variant,,ENST00000490880,;	337	215	211	SUCCESS
NGEF	25791	.	GRCh37	2	233759548	233759548	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1436671055	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	42	87	1	ENST00000264051.3:c.907G>A	p.Glu303Lys	p.E303K	ENST00000264051	NM_019850.2	303	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2500.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTCGTTCT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000264051	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000264051	Transcript	.	.	ENSG00000066248	7807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.805)	.	tolerated(0.3)	.	NGEF_HUMAN	NGEF	HGNC	C9JTV7_HUMAN,B4DDI2_HUMAN	.	UPI000013D4AE	SNV	NGEF,missense_variant,p.Glu96Lys,ENST00000420650,;NGEF,missense_variant,p.Glu211Lys,ENST00000373552,;NGEF,missense_variant,p.Glu211Lys,ENST00000409079,;NGEF,missense_variant,p.Glu26Lys,ENST00000458735,;NGEF,missense_variant,p.Glu303Lys,ENST00000264051,;NGEF,missense_variant,p.Glu26Lys,ENST00000416114,;NGEF,missense_variant,p.Glu26Lys,ENST00000539537,;NGEF,upstream_gene_variant,,ENST00000424488,;NGEF,upstream_gene_variant,,ENST00000461944,;	1186	88	89	SUCCESS
INPP5D	3635	.	GRCh37	2	234112784	234112784	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	69	0	ENST00000445964.1:c.1851G>A	p.Leu617=	p.L617=	ENST00000445964		617	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	.	2952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGGGGAA	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69	.	.	ENSP00000352575	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000359570	Transcript	.	.	ENSG00000168918	6079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHIP1_HUMAN	INPP5D	HGNC	H0Y5Q9_HUMAN,C9JF09_HUMAN	.	UPI0002065B89	SNV	INPP5D,synonymous_variant,p.%3D,ENST00000445964,;INPP5D,synonymous_variant,p.%3D,ENST00000415617,;INPP5D,synonymous_variant,p.%3D,ENST00000455936,;INPP5D,synonymous_variant,p.%3D,ENST00000450745,;INPP5D,synonymous_variant,p.%3D,ENST00000359570,;INPP5D,synonymous_variant,p.%3D,ENST00000435188,;INPP5D,intron_variant,,ENST00000417661,;RN7SL32P,upstream_gene_variant,,ENST00000580514,;INPP5D,upstream_gene_variant,,ENST00000491070,;	2952	69	90	SUCCESS
ACP1	52	.	GRCh37	2	277266	277266	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	273	26	333	0	ENST00000272065.5:c.439G>A	p.Val147Ile	p.V147I	ENST00000272065	NM_004300.3	147	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1640.1	439	MUTECT|MUSE|VARSCANS	.	AGTGTGTCAGG	NONE	.	.	hmmpanther:PTHR11717:SF17,hmmpanther:PTHR11717,Pfam_domain:PF01451,Gene3D:3.40.50.270,SMART_domains:SM00226,Superfamily_domains:SSF52788,Prints_domain:PR00720	.	.	ENSP00000272067	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000272067	Transcript	.	.	ENSG00000143727	122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.08)	.	PPAC_HUMAN	ACP1	HGNC	.	.	UPI0000000C82	SNV	ACP1,missense_variant,p.Val147Ile,ENST00000272065,;ACP1,missense_variant,p.Val147Ile,ENST00000272067,;ACP1,downstream_gene_variant,,ENST00000439645,;FAM150B,downstream_gene_variant,,ENST00000344414,;ACP1,downstream_gene_variant,,ENST00000407983,;ACP1,downstream_gene_variant,,ENST00000405233,;FAM150B,downstream_gene_variant,,ENST00000403610,;FAM150B,downstream_gene_variant,,ENST00000401503,;FAM150B,downstream_gene_variant,,ENST00000401489,;FAM150B,downstream_gene_variant,,ENST00000405290,;ACP1,non_coding_transcript_exon_variant,,ENST00000484464,;ACP1,3_prime_UTR_variant,,ENST00000453390,;ACP1,3_prime_UTR_variant,,ENST00000413140,;ACP1,non_coding_transcript_exon_variant,,ENST00000463831,;ACP1,downstream_gene_variant,,ENST00000480874,;ACP1,downstream_gene_variant,,ENST00000405364,;ACP1,downstream_gene_variant,,ENST00000442386,;	535	333	299	SUCCESS
ALK	238	.	GRCh37	2	29443612	29443612	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	44	0	ENST00000389048.3:c.3605del	p.Gly1202GlufsTer56	p.G1202Efs*56	ENST00000389048	NM_004304.4	1202	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS33172.1	3605	INDELOCATOR*|PINDEL	.	AGGTCTCCCCCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000373700	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	deletion	ALK,frameshift_variant,p.Gly1202GlufsTer56,ENST00000389048,;ALK,intron_variant,,ENST00000431873,;ALK,downstream_gene_variant,,ENST00000453137,;	4512	44	107	SUCCESS
THADA	63892	.	GRCh37	2	43813540	43813540	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	225	475	1	ENST00000405006.4:c.533G>T	p.Arg178Ile	p.R178I	ENST00000405006	NM_001083953.1	178	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS46268.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCTATTT	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	.	.	ENSP00000385995	.	7/38	.	.	.	.	.	.	.	.	COSM4094289	7/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.316)	.	deleterious(0)	1	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,missense_variant,p.Arg178Ile,ENST00000404790,;THADA,missense_variant,p.Arg178Ile,ENST00000402360,;THADA,missense_variant,p.Arg178Ile,ENST00000403856,;THADA,missense_variant,p.Arg178Ile,ENST00000405006,;THADA,missense_variant,p.Arg178Ile,ENST00000405975,;THADA,splice_region_variant,,ENST00000415080,;THADA,missense_variant,p.Arg178Ile,ENST00000408045,;THADA,missense_variant,p.Arg178Ile,ENST00000398653,;THADA,missense_variant,p.Arg178Ile,ENST00000474159,;	885	476	419	SUCCESS
EHBP1	23301	.	GRCh37	2	63092103	63092103	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771286650	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	123	0	ENST00000263991.5:c.1100A>T	p.Asp367Val	p.D367V	ENST00000263991	NM_015252.3	367	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS1872.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGATGAGT	NONE	.	.	hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124	.	.	ENSP00000263991	.	10/25	.	.	.	.	.	.	.	.	rs771286650	10/25	PASS	ENST00000263991	Transcript	.	.	ENSG00000115504	29144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EHBP1_HUMAN	EHBP1	HGNC	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN	.	UPI000013D49A	SNV	EHBP1,missense_variant,p.Asp367Val,ENST00000263991,;EHBP1,missense_variant,p.Asp332Val,ENST00000354487,;EHBP1,missense_variant,p.Asp332Val,ENST00000405289,;EHBP1,missense_variant,p.Asp332Val,ENST00000405015,;EHBP1,missense_variant,p.Asp332Val,ENST00000431489,;EHBP1,downstream_gene_variant,,ENST00000405482,;	1582	123	81	SUCCESS
CYP26B1	56603	.	GRCh37	2	72371121	72371121	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	71	228	1	ENST00000001146.2:c.426C>T	p.Arg142=	p.R142=	ENST00000001146	NM_019885.3	142	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1919.1	426	RADIA|SOMATICSNIPER|VARSCANS	.	ACCTTGCGCTT	NONE	.	.	hmmpanther:PTHR24288,hmmpanther:PTHR24288:SF9,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000001146	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000001146	Transcript	.	.	ENSG00000003137	20581	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP26B_HUMAN	CYP26B1	HGNC	E7ER08_HUMAN	.	UPI000003DC62	SNV	CYP26B1,synonymous_variant,p.%3D,ENST00000001146,;CYP26B1,synonymous_variant,p.%3D,ENST00000461519,;CYP26B1,intron_variant,,ENST00000546307,;CYP26B1,intron_variant,,ENST00000474509,;CYP26B1,upstream_gene_variant,,ENST00000412253,;	630	229	172	SUCCESS
POLQ	10721	.	GRCh37	3	121251856	121251856	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	203	479	0	ENST00000264233.5:c.941A>G	p.Glu314Gly	p.E314G	ENST00000264233	NM_199420.3	314	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS33833.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTCAAAT	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Superfamily_domains:SSF52540	.	.	ENSP00000264233	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.01)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Glu314Gly,ENST00000264233,;POLQ,non_coding_transcript_exon_variant,,ENST00000488282,;	1070	479	451	SUCCESS
KCNAB1	7881	.	GRCh37	3	156009561	156009561	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	13	0	ENST00000490337.1:c.276-129844T>G		p.*92*	ENST00000490337	NM_172160.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3174.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTCCTCT	NONE	.	.	.	.	.	ENSP00000419952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,5_prime_UTR_variant,,ENST00000302490,;KCNAB1,intron_variant,,ENST00000471742,;KCNAB1,intron_variant,,ENST00000490337,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000389636,;KCNAB1,intron_variant,,ENST00000475456,;KCNAB1,upstream_gene_variant,,ENST00000389634,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,intron_variant,,ENST00000478609,;KCNAB1,upstream_gene_variant,,ENST00000489036,;	.	13	17	SUCCESS
NLGN1	22871	.	GRCh37	3	173993239	173993240	+	frameshift_variant	Frame_Shift_Del	DEL	GG	GG	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	279	77	244	0	ENST00000457714.1:c.781_782delinsT	p.Gly261LeufsTer10	p.G261Lfs*10	ENST00000457714	NM_014932.3	261	GGt/Tt	0	.	.	.	.	.	T	G/X	protein_coding	YES	CCDS3222.1	781-782	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGATCTGGTGCTG	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	substitution	NLGN1,frameshift_variant,p.Gly301LeufsTer10,ENST00000415045,;NLGN1,frameshift_variant,p.Gly301LeufsTer10,ENST00000401917,;NLGN1,frameshift_variant,p.Gly261LeufsTer10,ENST00000457714,;NLGN1,frameshift_variant,p.Gly261LeufsTer10,ENST00000361589,;NLGN1,frameshift_variant,p.Gly261LeufsTer10,ENST00000545397,;NLGN1,non_coding_transcript_exon_variant,,ENST00000469564,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,non_coding_transcript_exon_variant,,ENST00000490929,;NLGN1,non_coding_transcript_exon_variant,,ENST00000469727,;	1210-1211	244	356	SUCCESS
GADL1	339896	.	GRCh37	3	30827849	30827849	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	rs767147995	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	113	285	0	ENST00000282538.5:c.1300G>T	p.Glu434Ter	p.E434*	ENST00000282538	NM_207359.2	434	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2649.2	1300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCCATCA	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61,Gene3D:3.90.1150.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383	.	.	ENSP00000282538	.	13/15	.	.	.	.	.	.	.	.	rs767147995,COSM3915727,COSM3915726	13/15	PASS	ENST00000282538	Transcript	.	.	ENSG00000144644	27949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,stop_gained,p.Glu434Ter,ENST00000282538,;	1451	285	263	SUCCESS
GLB1	2720	.	GRCh37	3	33099714	33099714	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	79	247	0	ENST00000307363.5:c.600G>A	p.Leu200=	p.L200=	ENST00000307363	NM_000404.2	200	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43061.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGCAGGTA	NONE	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF006336,Pfam_domain:PF01301,Gene3D:3.20.20.80,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF61	.	.	ENSP00000306920	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000307363	Transcript	.	.	ENSG00000170266	4298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BGAL_HUMAN	GLB1	HGNC	C9JF15_HUMAN,C9J539_HUMAN	.	UPI0000E5A543	SNV	GLB1,synonymous_variant,p.%3D,ENST00000399402,;GLB1,synonymous_variant,p.%3D,ENST00000440656,;GLB1,synonymous_variant,p.%3D,ENST00000307363,;GLB1,synonymous_variant,p.%3D,ENST00000445488,;GLB1,synonymous_variant,p.%3D,ENST00000415454,;GLB1,intron_variant,,ENST00000307377,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000498537,;GLB1,downstream_gene_variant,,ENST00000464355,;GLB1,3_prime_UTR_variant,,ENST00000438227,;GLB1,3_prime_UTR_variant,,ENST00000446732,;	745	247	182	SUCCESS
STAC	6769	.	GRCh37	3	36526541	36526541	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	126	324	1	ENST00000273183.3:c.562A>T	p.Met188Leu	p.M188L	ENST00000273183	NM_003149.1	188	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS2662.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTATGCCC	NONE	.	.	hmmpanther:PTHR15135:SF3,hmmpanther:PTHR15135	.	.	ENSP00000273183	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000273183	Transcript	.	.	ENSG00000144681	11353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(1)	.	STAC_HUMAN	STAC	HGNC	B4DZ13_HUMAN	.	UPI0000136081	SNV	STAC,missense_variant,p.Met188Leu,ENST00000273183,;STAC,intron_variant,,ENST00000434649,;STAC,intron_variant,,ENST00000457375,;STAC,non_coding_transcript_exon_variant,,ENST00000476388,;STAC,3_prime_UTR_variant,,ENST00000427486,;STAC,upstream_gene_variant,,ENST00000473452,;	862	325	288	SUCCESS
CHL1	10752	.	GRCh37	3	430967	430967	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	58	152	0	ENST00000397491.2:c.2232C>G	p.Gly744=	p.G744=	ENST00000397491		744	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS2556.1	2280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCTAGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000256509	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,synonymous_variant,p.%3D,ENST00000397491,;CHL1,synonymous_variant,p.%3D,ENST00000256509,;CHL1,upstream_gene_variant,,ENST00000445697,;CHL1-AS1,upstream_gene_variant,,ENST00000417612,;CHL1,non_coding_transcript_exon_variant,,ENST00000470880,;CHL1,downstream_gene_variant,,ENST00000470005,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	2922	152	131	SUCCESS
CCRL2	9034	.	GRCh37	3	46449560	46449560	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	A	rs762524534	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	26	1	ENST00000399036.3:c.-11G>A		p.X4_splice	ENST00000399036	NM_003965.4	4		0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS46814.1	26	SOMATICSNIPER|VARSCANS	.	ACAGGGCAGTC	NONE	.	.	hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF65	.	.	ENSP00000349967	.	2/2	.	.	.	.	.	.	.	.	rs762524534	2/2	PASS	ENST00000357392	Transcript	.	.	ENSG00000121797	1612	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	deleterious(0)	.	CCRL2_HUMAN	CCRL2	HGNC	C9JP23_HUMAN,B2R8C0_HUMAN	.	UPI00004570F3	SNV	CCRL2,missense_variant,p.Gly9Asp,ENST00000357392,;CCRL2,splice_region_variant,,ENST00000433848,;CCRL2,splice_region_variant,,ENST00000400880,;CCRL2,splice_region_variant,,ENST00000399036,;CCRL2,5_prime_UTR_variant,,ENST00000400882,;RP11-24F11.2,upstream_gene_variant,,ENST00000451485,;CCRL2,downstream_gene_variant,,ENST00000495870,;CCRL2,upstream_gene_variant,,ENST00000441909,;	139	27	23	SUCCESS
KIF9	64147	.	GRCh37	3	47307360	47307360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1395331540	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	60	173	1	ENST00000265529.3:c.776G>A	p.Gly259Asp	p.G259D	ENST00000265529		259	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2752.1	776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGCCCTCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF191,PROSITE_profiles:PS50067	.	.	ENSP00000333942	.	8/21	.	.	.	.	.	.	.	.	COSM1237256	8/21	PASS	ENST00000335044	Transcript	.	.	ENSG00000088727	16666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	KIF9_HUMAN	KIF9	HGNC	.	.	UPI000012DE55	SNV	KIF9,missense_variant,p.Gly166Asp,ENST00000352910,;KIF9,missense_variant,p.Gly259Asp,ENST00000452770,;KIF9,missense_variant,p.Gly259Asp,ENST00000265529,;KIF9,missense_variant,p.Gly259Asp,ENST00000444589,;KIF9,missense_variant,p.Gly259Asp,ENST00000335044,;KIF9,downstream_gene_variant,,ENST00000456548,;KIF9,non_coding_transcript_exon_variant,,ENST00000484629,;KIF9,non_coding_transcript_exon_variant,,ENST00000487440,;KIF9,missense_variant,p.Gly259Asp,ENST00000443784,;KIF9,upstream_gene_variant,,ENST00000489391,;	1134	174	133	SUCCESS
EPHA6	285220	.	GRCh37	3	96706423	96706423	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	75	174	0	ENST00000389672.5:c.700T>G	p.Phe234Val	p.F234V	ENST00000389672	NM_001080448.2	234	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS46876.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAATTCAAG	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000374323	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.4)	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Phe179Val,ENST00000506569,;EPHA6,missense_variant,p.Phe234Val,ENST00000389672,;EPHA6,missense_variant,p.Phe140Val,ENST00000542517,;EPHA6,missense_variant,p.Phe234Val,ENST00000470610,;	738	174	141	SUCCESS
CENPE	1062	.	GRCh37	4	104079539	104079539	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	69	258	0	ENST00000265148.3:c.2951A>T	p.Lys984Ile	p.K984I	ENST00000265148	NM_001813.2	984	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS34042.1	2951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGATTTTAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	24/49	.	.	.	.	.	.	.	.	.	24/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Lys984Ile,ENST00000503705,;CENPE,missense_variant,p.Lys959Ile,ENST00000380026,;CENPE,missense_variant,p.Lys984Ile,ENST00000265148,;	3041	258	79	SUCCESS
C4orf45	152940	.	GRCh37	4	159894436	159894436	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	88	251	0	ENST00000434826.2:c.92C>A	p.Pro31His	p.P31H	ENST00000434826	NM_152543.2	31	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47156.1	92	RADIA|MUTECT|MUSE	.	TTTTGGGTAAA	NONE	.	.	Pfam_domain:PF15123	.	.	ENSP00000412215	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,missense_variant,p.Pro31His,ENST00000434826,;C4orf45,non_coding_transcript_exon_variant,,ENST00000508011,;C4orf45,upstream_gene_variant,,ENST00000505647,;	177	251	203	SUCCESS
C4orf45	152940	.	GRCh37	4	159894437	159894437	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755417558	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	87	244	0	ENST00000434826.2:c.91C>A	p.Pro31Thr	p.P31T	ENST00000434826	NM_152543.2	31	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47156.1	91	RADIA|MUTECT|MUSE	.	TTTGGGTAAAT	NONE	.	.	Pfam_domain:PF15123	.	.	ENSP00000412215	.	2/5	.	.	.	.	.	.	.	.	rs755417558	2/5	PASS	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.548)	.	tolerated(0.38)	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,missense_variant,p.Pro31Thr,ENST00000434826,;C4orf45,non_coding_transcript_exon_variant,,ENST00000508011,;C4orf45,upstream_gene_variant,,ENST00000505647,;	176	244	202	SUCCESS
ZFP42	132625	.	GRCh37	4	188924570	188924570	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	94	1	ENST00000326866.4:c.609T>A	p.Ala203=	p.A203=	ENST00000326866	NM_174900.3	203	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3849.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCTGCCCT	NONE	.	.	hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,synonymous_variant,p.%3D,ENST00000326866,;ZFP42,synonymous_variant,p.%3D,ENST00000509524,;	1017	95	81	SUCCESS
SH3BP2	6452	.	GRCh37	4	2814128	2814128	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	77	158	1	ENST00000442312.2:c.4G>A	p.Ala2Thr	p.A2T	ENST00000442312	NM_001145855.1	2	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	.	CCDS54715.1	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGCCTCC	NONE	.	.	hmmpanther:PTHR15126:SF4,hmmpanther:PTHR15126	.	.	ENSP00000388152	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000442312	Transcript	1	.	ENSG00000087266	10825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.04)	.	3BP2_HUMAN	SH3BP2	HGNC	D6RER9_HUMAN,D6RC64_HUMAN,D6RBL6_HUMAN,D6RAB4_HUMAN,D6R995_HUMAN	.	UPI00017A7A9D	SNV	SH3BP2,missense_variant,p.Ala2Thr,ENST00000442312,;SH3BP2,5_prime_UTR_variant,,ENST00000435136,;SH3BP2,5_prime_UTR_variant,,ENST00000502260,;SH3BP2,intron_variant,,ENST00000513095,;SH3BP2,intron_variant,,ENST00000512014,;SH3BP2,intron_variant,,ENST00000503219,;SH3BP2,intron_variant,,ENST00000508385,;SH3BP2,intron_variant,,ENST00000504294,;SH3BP2,intron_variant,,ENST00000452765,;SH3BP2,intron_variant,,ENST00000389838,;SH3BP2,upstream_gene_variant,,ENST00000508338,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000511185,;SH3BP2,intron_variant,,ENST00000513020,;SH3BP2,intron_variant,,ENST00000511237,;SH3BP2,intron_variant,,ENST00000510074,;SH3BP2,intron_variant,,ENST00000512131,;SH3BP2,intron_variant,,ENST00000511663,;	183	159	171	SUCCESS
PDS5A	23244	.	GRCh37	4	39928476	39928476	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	71	241	0	ENST00000303538.8:c.348A>G	p.Ile116Met	p.I116M	ENST00000303538	NM_001100399.1	116	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS47045.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATATGTC	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2,Superfamily_domains:SSF48371	.	.	ENSP00000303427	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,missense_variant,p.Ile116Met,ENST00000503396,;PDS5A,missense_variant,p.Ile116Met,ENST00000303538,;PDS5A,intron_variant,,ENST00000513798,;	888	241	162	SUCCESS
GABRG1	2565	.	GRCh37	4	46060339	46060339	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	170	579	1	ENST00000295452.4:c.811G>T	p.Gly271Ter	p.G271*	ENST00000295452	NM_173536.3	271	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS3470.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCCCATTC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00252	.	.	ENSP00000295452	.	7/9	.	.	.	.	.	.	.	.	COSM3946383	7/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,stop_gained,p.Gly271Ter,ENST00000295452,;	979	580	400	SUCCESS
GABRG1	2565	.	GRCh37	4	46060340	46060340	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	162	560	2	ENST00000295452.4:c.810G>T	p.Met270Ile	p.M270I	ENST00000295452	NM_173536.3	270	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3470.1	810	RADIA|VARSCANS	.	TATCCCATTCT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000295452	.	7/9	.	.	.	.	.	.	.	.	COSM3604088	7/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.968)	.	tolerated(0.31)	1	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Met270Ile,ENST00000295452,;	978	562	383	SUCCESS
SLCO6A1	133482	.	GRCh37	5	101816070	101816070	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	150	446	0	ENST00000379807.3:c.427G>C	p.Glu143Gln	p.E143Q	ENST00000379807	NM_173488.3	143	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34206.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCAATGG	NONE	.	.	hmmpanther:PTHR11388:SF3,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Pfam_domain:PF03137,Superfamily_domains:SSF103473	.	.	ENSP00000421339	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000506729	Transcript	.	.	ENSG00000205359	23613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.321)	.	deleterious(0.04)	.	SO6A1_HUMAN	SLCO6A1	HGNC	H0Y8R6_HUMAN,D3DSZ4_HUMAN	.	UPI000020C392	SNV	SLCO6A1,missense_variant,p.Glu143Gln,ENST00000379807,;SLCO6A1,missense_variant,p.Glu143Gln,ENST00000513675,;SLCO6A1,missense_variant,p.Glu143Gln,ENST00000379810,;SLCO6A1,missense_variant,p.Glu143Gln,ENST00000506729,;SLCO6A1,missense_variant,p.Glu143Gln,ENST00000389019,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514551,;SLCO6A1,upstream_gene_variant,,ENST00000505739,;	599	446	331	SUCCESS
APC	324	.	GRCh37	5	112177044	112177044	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	121	253	0	ENST00000257430.4:c.5753T>C	p.Ile1918Thr	p.I1918T	ENST00000257430	NM_000038.5	1918	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS4107.1	5753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATAAATC	BUFFER|p.R1920*|c.5758C>T|3	.	.	hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Ile1918Thr,ENST00000257430,;APC,missense_variant,p.Ile1918Thr,ENST00000457016,;APC,missense_variant,p.Ile1918Thr,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000514164,;	6133	253	258	SUCCESS
PRR16	51334	.	GRCh37	5	120022379	120022379	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	17	0	ENST00000407149.2:c.890G>T	p.Arg297Met	p.R297M	ENST00000407149		297	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS4127.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAGGAAGT	BUFFER|p.T271T|c.813G>A|3,BUFFER|p.T294T|c.882G>A|3	.	.	hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,missense_variant,p.Arg297Met,ENST00000407149,;PRR16,missense_variant,p.Arg227Met,ENST00000446965,;PRR16,missense_variant,p.Arg227Met,ENST00000505123,;PRR16,missense_variant,p.Arg274Met,ENST00000379551,;PRR16,downstream_gene_variant,,ENST00000509923,;	1178	17	23	SUCCESS
PRR16	51334	.	GRCh37	5	120022380	120022380	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748914416	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	18	0	ENST00000407149.2:c.891G>T	p.Arg297Ser	p.R297S	ENST00000407149		297	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4127.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGAAGTC	BUFFER|p.T294T|c.882G>A|3	byFrequency	.	hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	rs748914416,COSM1486232	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	0,1	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,missense_variant,p.Arg297Ser,ENST00000407149,;PRR16,missense_variant,p.Arg227Ser,ENST00000446965,;PRR16,missense_variant,p.Arg227Ser,ENST00000505123,;PRR16,missense_variant,p.Arg274Ser,ENST00000379551,;PRR16,downstream_gene_variant,,ENST00000509923,;	1179	18	23	SUCCESS
PSD2	84249	.	GRCh37	5	139189077	139189077	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146689892	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	53	102	0	ENST00000274710.3:c.52C>T	p.Arg18Cys	p.R18C	ENST00000274710	NM_032289.2	18	Cgt/Tgt	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS4216.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCGTGAC	NONE	byCluster	.	.	.	T:0.0002	ENSP00000274710	.	2/15	.	.	.	.	.	.	.	.	rs146689892	2/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.03)	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Arg18Cys,ENST00000274710,;	257	102	112	SUCCESS
PCDHA14	26307	.	GRCh37	5	140242040	140242040	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	14	28	0	ENST00000506751.1:n.1181G>T		p.*394*	ENST00000506751				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGACCAA	NONE	.	.	.	.	.	ENSP00000424817	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000502505	Transcript	.	.	ENSG00000249034	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC005609.1	Clone_based_ensembl_gene	Q8NB83_HUMAN	.	UPI0000073A41	SNV	AC005609.1,3_prime_UTR_variant,,ENST00000502505,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;	1185	28	17	SUCCESS
ANKH	56172	.	GRCh37	5	14716830	14716832	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	rs121908406	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	96	42	129	0	ENST00000284268.6:c.1124_1126del	p.Ser375del	p.S375del	ENST00000284268	NM_054027.4	375	tCCTtc/ttc	0	.	.	.	.	.	-	SF/F	protein_coding	YES	CCDS3885.1	1124-1126	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAAGAAGGAGAAG	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000284268	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000284268	Transcript	1	.	ENSG00000154122	15492	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANKH_HUMAN	ANKH	HGNC	B3KMG4_HUMAN	.	UPI000003F535	deletion	ANKH,inframe_deletion,p.Ser177del,ENST00000535119,;ANKH,inframe_deletion,p.Ser375del,ENST00000284268,;ANKH,non_coding_transcript_exon_variant,,ENST00000502585,;	1455-1457	129	138	SUCCESS
SPINK5	11005	.	GRCh37	5	147503432	147503432	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	75	176	0	ENST00000256084.7:c.2576del	p.Gly859GlufsTer65	p.G859Efs*65	ENST00000256084	NM_006846.3	859	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS47300.1	2575	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAATGGAAAG	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Gene3D:1.10.1890.10,SMART_domains:SM00280,Superfamily_domains:SSF100895	.	.	ENSP00000352936	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000359874	Transcript	1	.	ENSG00000133710	15464	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ISK5_HUMAN	SPINK5	HGNC	.	.	UPI000020CF25	deletion	SPINK5,frameshift_variant,p.Gly859GlufsTer65,ENST00000256084,;SPINK5,frameshift_variant,p.Gly840GlufsTer?,ENST00000508733,;SPINK5,frameshift_variant,p.Gly859GlufsTer?,ENST00000398454,;SPINK5,frameshift_variant,p.Gly859GlufsTer83,ENST00000359874,;SPINK5,downstream_gene_variant,,ENST00000507988,;	2648	176	234	SUCCESS
RNF145	153830	.	GRCh37	5	158603765	158603765	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	401	294	769	1	ENST00000424310.2:c.496G>T	p.Glu166Ter	p.E166*	ENST00000424310	NM_001199383.1	166	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS56393.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCCAAAG	NONE	.	.	Pfam_domain:PF13705,hmmpanther:PTHR12477:SF68,hmmpanther:PTHR12477,Transmembrane_helices:TMhelix	.	.	ENSP00000430955	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	SNV	RNF145,stop_gained,p.Glu180Ter,ENST00000520638,;RNF145,stop_gained,p.Glu183Ter,ENST00000521606,;RNF145,stop_gained,p.Glu166Ter,ENST00000519865,;RNF145,stop_gained,p.Glu194Ter,ENST00000274542,;RNF145,stop_gained,p.Glu196Ter,ENST00000518802,;RNF145,stop_gained,p.Glu166Ter,ENST00000424310,;RNF145,upstream_gene_variant,,ENST00000521266,;	736	770	696	SUCCESS
RNF145	153830	.	GRCh37	5	158603766	158603766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	400	295	766	1	ENST00000424310.2:c.495G>T	p.Leu165Phe	p.L165F	ENST00000424310	NM_001199383.1	165	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS56393.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCAAAGG	NONE	.	.	Pfam_domain:PF13705,hmmpanther:PTHR12477:SF68,hmmpanther:PTHR12477,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000430955	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	tolerated(0.08)	.	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	SNV	RNF145,missense_variant,p.Leu179Phe,ENST00000520638,;RNF145,missense_variant,p.Leu182Phe,ENST00000521606,;RNF145,missense_variant,p.Leu165Phe,ENST00000519865,;RNF145,missense_variant,p.Leu193Phe,ENST00000274542,;RNF145,missense_variant,p.Leu195Phe,ENST00000518802,;RNF145,missense_variant,p.Leu165Phe,ENST00000424310,;RNF145,upstream_gene_variant,,ENST00000521266,;	735	767	696	SUCCESS
GNB2L1	0	.	GRCh37	5	180666567	180666567	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768541673	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	40	94	0	ENST00000512805.1:c.445G>C	p.Glu149Gln	p.E149Q	ENST00000512805	NM_006098.4	149	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34324.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCTGAGT	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19868,hmmpanther:PTHR19868:SF0,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000426909	.	4/8	.	.	.	.	.	.	.	.	rs768541673	4/8	PASS	ENST00000512805	Transcript	.	.	ENSG00000204628	4399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.685)	.	deleterious(0.01)	.	GBLP_HUMAN	GNB2L1	HGNC	E9KL35_HUMAN,D6RFX4_HUMAN,D6RF23_HUMAN	.	UPI0000001602	SNV	GNB2L1,missense_variant,p.Glu101Gln,ENST00000511900,;GNB2L1,missense_variant,p.Glu56Gln,ENST00000504128,;GNB2L1,missense_variant,p.Glu125Gln,ENST00000503081,;GNB2L1,missense_variant,p.Glu189Gln,ENST00000513027,;GNB2L1,missense_variant,p.Glu167Gln,ENST00000512968,;GNB2L1,missense_variant,p.Glu135Gln,ENST00000502844,;GNB2L1,missense_variant,p.Glu67Gln,ENST00000502905,;GNB2L1,missense_variant,p.Glu80Gln,ENST00000507756,;GNB2L1,missense_variant,p.Glu105Gln,ENST00000376817,;GNB2L1,missense_variant,p.Glu7Gln,ENST00000509535,;GNB2L1,missense_variant,p.Glu149Gln,ENST00000511566,;GNB2L1,missense_variant,p.Glu108Gln,ENST00000507000,;GNB2L1,missense_variant,p.Glu197Gln,ENST00000510199,;GNB2L1,missense_variant,p.Glu149Gln,ENST00000512805,;GNB2L1,intron_variant,,ENST00000504726,;GNB2L1,upstream_gene_variant,,ENST00000509148,;TRIM41,downstream_gene_variant,,ENST00000315073,;GNB2L1,downstream_gene_variant,,ENST00000456394,;GNB2L1,upstream_gene_variant,,ENST00000514455,;TRIM41,downstream_gene_variant,,ENST00000351937,;SNORD95,downstream_gene_variant,,ENST00000579879,;SNORD96A,downstream_gene_variant,,ENST00000606577,;GNB2L1,downstream_gene_variant,,ENST00000505461,;GNB2L1,downstream_gene_variant,,ENST00000503170,;GNB2L1,downstream_gene_variant,,ENST00000514318,;TRIM41,downstream_gene_variant,,ENST00000510072,;GNB2L1,3_prime_UTR_variant,,ENST00000508682,;GNB2L1,3_prime_UTR_variant,,ENST00000503494,;GNB2L1,3_prime_UTR_variant,,ENST00000504325,;GNB2L1,3_prime_UTR_variant,,ENST00000506312,;GNB2L1,3_prime_UTR_variant,,ENST00000511473,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000514183,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000502548,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000508044,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000513060,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000515417,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000502890,;GNB2L1,upstream_gene_variant,,ENST00000507273,;TRIM41,downstream_gene_variant,,ENST00000515223,;TRIM41,downstream_gene_variant,,ENST00000503114,;GNB2L1,downstream_gene_variant,,ENST00000507261,;TRIM41,downstream_gene_variant,,ENST00000508930,;GNB2L1,downstream_gene_variant,,ENST00000508963,;TRIM41,downstream_gene_variant,,ENST00000514219,;	854	94	90	SUCCESS
GUSBP1	728411	.	GRCh37	5	21459680	21459680	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	11	111	0	ENST00000607545.1:n.16T>G		p.*6*	ENST00000607545				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CGCTCTGGGCC	NONE	.	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000607545	Transcript	.	.	ENSG00000183666	13670	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	GUSBP1	HGNC	.	.	.	SNV	GUSBP1,non_coding_transcript_exon_variant,,ENST00000508973,;GUSBP1,non_coding_transcript_exon_variant,,ENST00000607545,;GUSBP1,non_coding_transcript_exon_variant,,ENST00000509649,;GUSBP1,intron_variant,,ENST00000508260,;GUSBP1,non_coding_transcript_exon_variant,,ENST00000449061,;GUSBP1,non_coding_transcript_exon_variant,,ENST00000328346,;	16	111	151	SUCCESS
HMGCS1	3157	.	GRCh37	5	43298941	43298941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	67	137	0	ENST00000325110.6:c.127G>T	p.Asp43Tyr	p.D43Y	ENST00000325110	NM_001098272.2	43	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34154.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCTACAC	NONE	.	.	hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,TIGRFAM_domain:TIGR01833,Pfam_domain:PF01154,Gene3D:3.40.47.10,Superfamily_domains:SSF53901	.	.	ENSP00000322706	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000325110	Transcript	.	.	ENSG00000112972	5007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.531)	.	deleterious(0)	.	HMCS1_HUMAN	HMGCS1	HGNC	Q8N995_HUMAN,D6RIW1_HUMAN	.	UPI000012C9BC	SNV	HMGCS1,missense_variant,p.Asp43Tyr,ENST00000433297,;HMGCS1,missense_variant,p.Asp43Tyr,ENST00000325110,;HMGCS1,missense_variant,p.Asp43Tyr,ENST00000511774,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507293,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507004,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	334	137	133	SUCCESS
WDR41	55255	.	GRCh37	5	76785371	76785371	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	139	317	0	ENST00000296679.4:c.78A>T	p.Glu26Asp	p.E26D	ENST00000296679	NM_018268.2	26	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4038.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTTCACC	NONE	.	.	hmmpanther:PTHR22805,hmmpanther:PTHR22805:SF2	.	.	ENSP00000296679	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000296679	Transcript	.	.	ENSG00000164253	25601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.35)	.	WDR41_HUMAN	WDR41	HGNC	B4E2L4_HUMAN	.	UPI00000744EF	SNV	WDR41,missense_variant,p.Glu18Asp,ENST00000504895,;WDR41,missense_variant,p.Glu26Asp,ENST00000296679,;WDR41,missense_variant,p.Glu23Asp,ENST00000509971,;WDR41,missense_variant,p.Glu26Asp,ENST00000514559,;WDR41,missense_variant,p.Glu19Asp,ENST00000515253,;WDR41,missense_variant,p.Glu21Asp,ENST00000511036,;WDR41,splice_region_variant,,ENST00000511791,;WDR41,5_prime_UTR_variant,,ENST00000507654,;WDR41,5_prime_UTR_variant,,ENST00000414719,;WDR41,intron_variant,,ENST00000507029,;WDR41,non_coding_transcript_exon_variant,,ENST00000513917,;WDR41,non_coding_transcript_exon_variant,,ENST00000512168,;WDR41,non_coding_transcript_exon_variant,,ENST00000509858,;WDR41,non_coding_transcript_exon_variant,,ENST00000515321,;WDR41,non_coding_transcript_exon_variant,,ENST00000514451,;WDR41,non_coding_transcript_exon_variant,,ENST00000507452,;WDR41,missense_variant,p.Glu26Asp,ENST00000506307,;WDR41,missense_variant,p.Glu26Asp,ENST00000505129,;WDR41,missense_variant,p.Glu26Asp,ENST00000509701,;WDR41,missense_variant,p.Glu25Asp,ENST00000509892,;WDR41,missense_variant,p.Glu26Asp,ENST00000506474,;WDR41,missense_variant,p.Glu26Asp,ENST00000513417,;WDR41,3_prime_UTR_variant,,ENST00000503035,;WDR41,non_coding_transcript_exon_variant,,ENST00000507239,;	454	317	296	SUCCESS
POU5F2	134187	.	GRCh37	5	93076516	93076516	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	97	226	0	ENST00000510627.4:c.754G>C	p.Asp252His	p.D252H	ENST00000510627	NM_153216.1	252	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS59489.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCTTCT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00028	.	.	ENSP00000464890	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510627	Transcript	.	.	ENSG00000248483	26367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	PO5F2_HUMAN	POU5F2	HGNC	.	.	UPI0000135E4C	SNV	POU5F2,missense_variant,p.Asp252His,ENST00000510627,;FAM172A,intron_variant,,ENST00000509739,;FAM172A,intron_variant,,ENST00000505869,;FAM172A,intron_variant,,ENST00000509163,;FAM172A,intron_variant,,ENST00000395965,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;POU5F2,non_coding_transcript_exon_variant,,ENST00000606183,;FAM172A,intron_variant,,ENST00000502503,;	828	226	212	SUCCESS
LNPEP	4012	.	GRCh37	5	96332096	96332096	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	165	416	0	ENST00000231368.5:c.1410G>T	p.Trp470Cys	p.W470C	ENST00000231368	NM_005575.2	470	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS4087.1	1410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGTTTGG	NONE	.	.	Prints_domain:PR00756,Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	.	.	ENSP00000231368	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000231368	Transcript	.	.	ENSG00000113441	6656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LCAP_HUMAN	LNPEP	HGNC	.	.	UPI000013C94B	SNV	LNPEP,missense_variant,p.Trp456Cys,ENST00000395770,;LNPEP,missense_variant,p.Trp470Cys,ENST00000231368,;LNPEP,non_coding_transcript_exon_variant,,ENST00000473914,;LNPEP,non_coding_transcript_exon_variant,,ENST00000474122,;	2102	416	314	SUCCESS
RFX6	222546	.	GRCh37	6	117198538	117198538	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	54	0	ENST00000332958.2:c.100G>A	p.Gly34Ser	p.G34S	ENST00000332958	NM_173560.3	34	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS5113.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGCAAG	NONE	.	.	.	.	.	ENSP00000332208	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000332958	Transcript	.	.	ENSG00000185002	21478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.22)	.	RFX6_HUMAN	RFX6	HGNC	.	.	UPI00001609BE	SNV	RFX6,missense_variant,p.Gly34Ser,ENST00000332958,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	116	54	92	SUCCESS
TMEM244	253582	.	GRCh37	6	130166922	130166922	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143949103	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	126	242	0	ENST00000368143.1:c.109G>A	p.Val37Met	p.V37M	ENST00000368143	NM_001010876.1	37	Gtg/Atg	0	T:0.0002	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS34536.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACGCAGC	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12952,hmmpanther:PTHR12952:SF1	T:0.001	T:0	ENSP00000403755	T:0	3/6	.	.	.	.	.	.	.	.	rs143949103,COSM50557	3/6	PASS	ENST00000438392	Transcript	.	T:0.0002	ENSG00000203756	21571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	T:0	tolerated(0.28)	0,1	TM244_HUMAN	TMEM244	HGNC	.	.	UPI0000161685	SNV	TMEM244,missense_variant,p.Val37Met,ENST00000438392,;TMEM244,missense_variant,p.Val37Met,ENST00000368143,;	290	242	243	SUCCESS
IYD	389434	.	GRCh37	6	150713484	150713493	+	frameshift_variant	Frame_Shift_Del	DEL	CAGCCCCGAG	CAGCCCCGAG	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	CAGCCCCGAG	CAGCCCCGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	54	0	ENST00000344419.3:c.374_383del	p.Thr125MetfsTer13	p.T125Mfs*13	ENST00000344419	NM_203395.2	125	aCAGCCCCGAGt/at	0	.	.	.	.	.	-	TAPS/X	protein_coding	YES	CCDS55067.1	374-383	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGAACAGCCCCGAGTGGGG	NONE	.	.	hmmpanther:PTHR23026:SF90,hmmpanther:PTHR23026,Gene3D:3.40.109.10,Pfam_domain:PF00881,Superfamily_domains:SSF55469	.	.	ENSP00000229447	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000229447	Transcript	.	.	ENSG00000009765	21071	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IYD1_HUMAN	IYD	HGNC	.	.	UPI000020D099	deletion	IYD,frameshift_variant,p.Thr125MetfsTer13,ENST00000500320,;IYD,frameshift_variant,p.Thr125MetfsTer13,ENST00000344419,;IYD,frameshift_variant,p.Thr125MetfsTer13,ENST00000392255,;IYD,frameshift_variant,p.Thr125MetfsTer13,ENST00000229447,;IYD,frameshift_variant,p.Thr125MetfsTer13,ENST00000392256,;IYD,frameshift_variant,p.Thr70MetfsTer13,ENST00000425615,;IYD,frameshift_variant,p.Ser62GlyfsTer?,ENST00000422583,;IYD,frameshift_variant,p.Thr125MetfsTer13,ENST00000367335,;IYD,downstream_gene_variant,,ENST00000546121,;	514-523	54	49	SUCCESS
SYNE1	23345	.	GRCh37	6	152765606	152765606	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	108	280	0	ENST00000367255.5:c.3777T>A	p.Ala1259=	p.A1259=	ENST00000367255	NM_182961.3	1259	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5236.2	3777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCAGCTTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	30/146	.	.	.	.	.	.	.	.	.	30/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000367248,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000413186,;SYNE1,synonymous_variant,p.%3D,ENST00000367253,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	4379	280	227	SUCCESS
SYNE1	23345	.	GRCh37	6	152765624	152765624	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	105	300	0	ENST00000367255.5:c.3759A>C	p.Lys1253Asn	p.K1253N	ENST00000367255	NM_182961.3	1253	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS5236.2	3759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTTTAGA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	30/146	.	.	.	.	.	.	.	.	.	30/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Lys1243Asn,ENST00000367248,;SYNE1,missense_variant,p.Lys1260Asn,ENST00000423061,;SYNE1,missense_variant,p.Lys1260Asn,ENST00000448038,;SYNE1,missense_variant,p.Lys1253Asn,ENST00000367255,;SYNE1,missense_variant,p.Lys1253Asn,ENST00000413186,;SYNE1,missense_variant,p.Lys1253Asn,ENST00000367253,;SYNE1,missense_variant,p.Lys1319Asn,ENST00000341594,;SYNE1,missense_variant,p.Lys1253Asn,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	4361	300	229	SUCCESS
XPO5	57510	.	GRCh37	6	43517661	43517661	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769738971	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	143	159	0	ENST00000265351.7:c.1739C>T	p.Ser580Phe	p.S580F	ENST00000265351	NM_020750.2	580	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS47430.1	1739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAGATGAA	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000265351	.	16/32	.	.	.	.	.	.	.	.	rs769738971	16/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.03)	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,missense_variant,p.Ser580Phe,ENST00000265351,;XPO5,downstream_gene_variant,,ENST00000424378,;XPO5,3_prime_UTR_variant,,ENST00000496341,;XPO5,upstream_gene_variant,,ENST00000398835,;XPO5,upstream_gene_variant,,ENST00000513451,;XPO5,upstream_gene_variant,,ENST00000515657,;	1950	159	236	SUCCESS
TFAP2D	83741	.	GRCh37	6	50681590	50681590	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	35	0	ENST00000008391.3:c.-179A>T		p.*60*	ENST00000008391	NM_172238.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4933.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTTAAGTGGG	NONE	.	.	.	.	.	ENSP00000008391	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,5_prime_UTR_variant,,ENST00000008391,;TFAP2D,upstream_gene_variant,,ENST00000492804,;	50	35	34	SUCCESS
DUS4L	11062	.	GRCh37	7	107216972	107216972	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	73	233	0	ENST00000265720.3:c.641T>C	p.Ile214Thr	p.I214T	ENST00000265720	NM_001270419.1	214	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS5745.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAATTGCTA	NONE	.	.	hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF25,Gene3D:3.20.20.70,Pfam_domain:PF01207,PIRSF_domain:PIRSF006621,Superfamily_domains:SSF51395	.	.	ENSP00000265720	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000265720	Transcript	.	.	ENSG00000105865	21517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.426)	.	deleterious(0)	.	DUS4L_HUMAN	DUS4L	HGNC	A4D0R5_HUMAN,F8WEL2_HUMAN,B4DFH2_HUMAN	.	UPI000006DD5D	SNV	DUS4L,missense_variant,p.Ile93Thr,ENST00000402620,;DUS4L,missense_variant,p.Ile214Thr,ENST00000265720,;BCAP29,upstream_gene_variant,,ENST00000479917,;BCAP29,upstream_gene_variant,,ENST00000379119,;BCAP29,upstream_gene_variant,,ENST00000465919,;BCAP29,upstream_gene_variant,,ENST00000421217,;BCAP29,upstream_gene_variant,,ENST00000473124,;BCAP29,upstream_gene_variant,,ENST00000445771,;BCAP29,upstream_gene_variant,,ENST00000005259,;BCAP29,upstream_gene_variant,,ENST00000457837,;BCAP29,upstream_gene_variant,,ENST00000379117,;RP4-593H12.1,downstream_gene_variant,,ENST00000610269,;BCAP29,upstream_gene_variant,,ENST00000466094,;BCAP29,upstream_gene_variant,,ENST00000494086,;DUS4L,3_prime_UTR_variant,,ENST00000431839,;DUS4L,3_prime_UTR_variant,,ENST00000436411,;DUS4L,3_prime_UTR_variant,,ENST00000422290,;DUS4L,3_prime_UTR_variant,,ENST00000443233,;DUS4L,non_coding_transcript_exon_variant,,ENST00000485825,;DUS4L,non_coding_transcript_exon_variant,,ENST00000471763,;DUS4L,downstream_gene_variant,,ENST00000497798,;BCAP29,upstream_gene_variant,,ENST00000482371,;DUS4L,downstream_gene_variant,,ENST00000458611,;BCAP29,upstream_gene_variant,,ENST00000442065,;BCAP29,upstream_gene_variant,,ENST00000486326,;	1003	233	163	SUCCESS
RBM28	55131	.	GRCh37	7	127983927	127983927	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs761224808	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	13	0	ENST00000223073.2:c.-80C>G		p.*27*	ENST00000223073	NM_018077.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5801.1	.	MUTECT|MUSE	.	GGTAGGACAAC	NONE	.	.	.	.	.	ENSP00000223073	.	1/19	.	.	.	.	.	.	.	.	rs761224808	1/19	PASS	ENST00000223073	Transcript	.	.	ENSG00000106344	21863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBM28_HUMAN	RBM28	HGNC	.	.	UPI000006FFF1	SNV	RBM28,5_prime_UTR_variant,,ENST00000478061,;RBM28,5_prime_UTR_variant,,ENST00000459726,;RBM28,5_prime_UTR_variant,,ENST00000223073,;RBM28,upstream_gene_variant,,ENST00000415472,;RNU7-27P,upstream_gene_variant,,ENST00000459281,;	36	13	13	SUCCESS
PLXNA4	91584	.	GRCh37	7	131825502	131825502	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1326870251	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	70	161	0	ENST00000321063.4:c.5294G>A	p.Ser1765Asn	p.S1765N	ENST00000321063	NM_020911.1	1765	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS43646.1	5294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCTGTTC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000352882	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.42)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Ser1765Asn,ENST00000321063,;PLXNA4,missense_variant,p.Ser1765Asn,ENST00000359827,;PLXNA4,non_coding_transcript_exon_variant,,ENST00000496550,;	6257	161	144	SUCCESS
CHRM2	1129	.	GRCh37	7	136699983	136699983	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	147	358	0	ENST00000320658.5:c.371G>T	p.Cys124Phe	p.C124F	ENST00000320658	NM_001006632.1	124	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS5843.1	371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGTGTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00243,Prints_domain:PR00237	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,missense_variant,p.Cys124Phe,ENST00000320658,;CHRM2,missense_variant,p.Cys124Phe,ENST00000401861,;CHRM2,missense_variant,p.Cys124Phe,ENST00000397608,;CHRM2,missense_variant,p.Cys124Phe,ENST00000402486,;CHRM2,missense_variant,p.Cys124Phe,ENST00000453373,;CHRM2,missense_variant,p.Cys124Phe,ENST00000445907,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	899	358	287	SUCCESS
MGAM	8972	.	GRCh37	7	141731507	141731507	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	154	426	0	ENST00000549489.2:c.1498G>T	p.Asp500Tyr	p.D500Y	ENST00000549489	NM_004668.2	500	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS47727.1	1498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGATTAT	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	13/48	.	.	.	.	.	.	.	.	.	13/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Asp500Tyr,ENST00000475668,;MGAM,missense_variant,p.Asp500Tyr,ENST00000549489,;MGAM,non_coding_transcript_exon_variant,,ENST00000495045,;	1593	426	352	SUCCESS
CARD11	84433	.	GRCh37	7	2979547	2979547	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	162	388	0	ENST00000396946.4:c.700C>T	p.His234Tyr	p.H234Y	ENST00000396946	NM_032415.4	234	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS5336.2	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTGCTTTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	tolerated(0.2)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.His234Tyr,ENST00000396946,;AC004906.3,upstream_gene_variant,,ENST00000423194,;	1104	388	333	SUCCESS
WIPF3	644150	.	GRCh37	7	29923639	29923639	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	10	0	ENST00000242140.5:c.529C>G	p.Pro177Ala	p.P177A	ENST00000242140		177	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS56472.1	529	SOMATICSNIPER|MUTECT|VARSCANS	.	CCCCTCCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF31,hmmpanther:PTHR23202	.	.	ENSP00000386878	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000409290	Transcript	.	.	ENSG00000122574	22004	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.811)	.	tolerated_low_confidence(0.1)	.	WIPF3_HUMAN	WIPF3	HGNC	.	.	UPI00006C0B79	SNV	WIPF3,missense_variant,p.Pro177Ala,ENST00000409290,;WIPF3,missense_variant,p.Pro177Ala,ENST00000242140,;WIPF3,missense_variant,p.Pro177Ala,ENST00000409123,;	529	10	19	SUCCESS
CCDC129	0	.	GRCh37	7	31683115	31683115	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	80	163	0	ENST00000451887.2:c.2209C>A	p.Gln737Lys	p.Q737K	ENST00000451887	NM_001257968.1	737	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS59050.1	2209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCCAGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Gln737Lys,ENST00000451887,;CCDC129,missense_variant,p.Gln619Lys,ENST00000409210,;CCDC129,missense_variant,p.Gln563Lys,ENST00000319386,;CCDC129,missense_variant,p.Gln711Lys,ENST00000407970,;	2221	163	154	SUCCESS
GPR141	353345	.	GRCh37	7	37780403	37780403	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	87	276	0	ENST00000334425.1:c.408T>C	p.Ser136=	p.S136=	ENST00000334425	NM_181791.1	136	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS5451.1	408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTGCTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000390410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000447769	Transcript	.	.	ENSG00000187037	19997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP141_HUMAN	GPR141	HGNC	C9JDP7_HUMAN	.	UPI000004B92B	SNV	GPR141,synonymous_variant,p.%3D,ENST00000334425,;GPR141,synonymous_variant,p.%3D,ENST00000447769,;EPDR1,intron_variant,,ENST00000476620,;GPR141,downstream_gene_variant,,ENST00000450180,;GPR141,intron_variant,,ENST00000461610,;	697	276	212	SUCCESS
NPC1L1	29881	.	GRCh37	7	44579861	44579861	+	synonymous_variant	Silent	SNP	C	C	T	rs761127381	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	40	84	0	ENST00000289547.4:c.135G>A	p.Leu45=	p.L45=	ENST00000289547	NM_013389.2	45	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5491.1	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACAGCTC	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	2/20	.	.	.	.	.	.	.	.	rs761127381	2/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,synonymous_variant,p.%3D,ENST00000546276,;NPC1L1,synonymous_variant,p.%3D,ENST00000381160,;NPC1L1,synonymous_variant,p.%3D,ENST00000423141,;NPC1L1,synonymous_variant,p.%3D,ENST00000289547,;	191	84	95	SUCCESS
WBSCR17	0	.	GRCh37	7	71130478	71130478	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	83	128	0	ENST00000333538.5:c.1163G>T	p.Ser388Ile	p.S388I	ENST00000333538	NM_022479.2	388	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS5540.1	1163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATAGCAACA	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448	.	.	ENSP00000329654	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.17)	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Ser388Ile,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	1797	128	165	SUCCESS
ZKSCAN1	7586	.	GRCh37	7	99621227	99621227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	103	0	ENST00000324306.6:c.98A>T	p.Glu33Val	p.E33V	ENST00000324306	NM_003439.1	33	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34698.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGAGGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23226:SF63,hmmpanther:PTHR23226	.	.	ENSP00000323148	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000324306	Transcript	.	.	ENSG00000106261	13101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.21)	.	ZKSC1_HUMAN	ZKSCAN1	HGNC	E9PC66_HUMAN,C9JRM9_HUMAN,B3KRF7_HUMAN	.	UPI00000726DD	SNV	ZKSCAN1,missense_variant,p.Glu33Val,ENST00000324306,;ZKSCAN1,missense_variant,p.Glu33Val,ENST00000432317,;ZKSCAN1,5_prime_UTR_variant,,ENST00000426572,;ZKSCAN1,intron_variant,,ENST00000535170,;ZKSCAN1,non_coding_transcript_exon_variant,,ENST00000482979,;	332	103	84	SUCCESS
ANKRD46	157567	.	GRCh37	8	101540171	101540171	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	97	346	0	ENST00000520552.1:c.372C>T	p.Val124=	p.V124=	ENST00000520552	NM_001270379.1	124	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS59109.1	372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATGACATC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24166,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000429015	.	4/6	.	.	.	.	.	.	.	.	COSM3884175,COSM3884176,COSM3884174	4/6	PASS	ENST00000520552	Transcript	.	.	ENSG00000186106	27229	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	ANR46_HUMAN	ANKRD46	HGNC	J3KP26_HUMAN,E5RI20_HUMAN,E5RHV2_HUMAN,E5RFM7_HUMAN	.	UPI000018CE82	SNV	ANKRD46,synonymous_variant,p.%3D,ENST00000520311,;ANKRD46,synonymous_variant,p.%3D,ENST00000519597,;ANKRD46,synonymous_variant,p.%3D,ENST00000335659,;ANKRD46,synonymous_variant,p.%3D,ENST00000358990,;ANKRD46,synonymous_variant,p.%3D,ENST00000520552,;ANKRD46,intron_variant,,ENST00000519316,;ANKRD46,downstream_gene_variant,,ENST00000521345,;ANKRD46,downstream_gene_variant,,ENST00000524072,;ANKRD46,downstream_gene_variant,,ENST00000523000,;	534	346	240	SUCCESS
CSMD3	114788	.	GRCh37	8	113237152	113237152	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767542318	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	322	297	659	2	ENST00000297405.5:c.10972C>T	p.Pro3658Ser	p.P3658S	ENST00000297405	NM_198123.1	3658	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6315.1	10972	RADIA|VARSCANS	.	TTTAGGTGCAG	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44	.	.	ENSP00000297405	.	71/71	.	.	.	.	.	.	.	.	rs767542318	71/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.297)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Pro3588Ser,ENST00000352409,;CSMD3,missense_variant,p.Pro3489Ser,ENST00000455883,;CSMD3,missense_variant,p.Pro3658Ser,ENST00000297405,;CSMD3,missense_variant,p.Pro2928Ser,ENST00000339701,;CSMD3,missense_variant,p.Pro3618Ser,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	11217	662	619	SUCCESS
CSMD3	114788	.	GRCh37	8	113519006	113519006	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	100	251	0	ENST00000297405.5:c.4809C>A	p.Asn1603Lys	p.N1603K	ENST00000297405	NM_198123.1	1603	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS6315.1	4809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAGTTTGG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	29/71	.	.	.	.	.	.	.	.	.	29/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Asn1603Lys,ENST00000352409,;CSMD3,missense_variant,p.Asn1499Lys,ENST00000455883,;CSMD3,missense_variant,p.Asn1603Lys,ENST00000297405,;CSMD3,missense_variant,p.Asn943Lys,ENST00000339701,;CSMD3,missense_variant,p.Asn1563Lys,ENST00000343508,;	5054	251	241	SUCCESS
MYC	4609	.	GRCh37	8	128751001	128751001	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	24	25	0	ENST00000377970.2:c.538G>A	p.Ala180Thr	p.A180T	ENST00000377970	NM_002467.4	180	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6359.2	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGCCCGC	NONE	.	.	hmmpanther:PTHR11514:SF2,hmmpanther:PTHR11514,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705	.	.	ENSP00000367207	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377970	Transcript	1	.	ENSG00000136997	7553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.15)	.	MYC_HUMAN	MYC	HGNC	Q6LBK7_HUMAN,B4E1N7_HUMAN,B3CJ65_HUMAN	.	UPI0000D624FF	SNV	MYC,missense_variant,p.Ala165Thr,ENST00000259523,;MYC,missense_variant,p.Ala179Thr,ENST00000524013,;MYC,missense_variant,p.Ala180Thr,ENST00000377970,;MYC,missense_variant,p.Ala179Thr,ENST00000517291,;MYC,downstream_gene_variant,,ENST00000520751,;CASC11,upstream_gene_variant,,ENST00000519071,;CASC11,upstream_gene_variant,,ENST00000502463,;CASC11,upstream_gene_variant,,ENST00000518376,;	1048	25	34	SUCCESS
C8orf31	0	.	GRCh37	8	144124680	144124680	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs750042198	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	26	0	ENST00000395172.1:c.186+1G>A		p.X62_splice	ENST00000395172	NM_173687.2	62		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6395.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTGTAAGT	NONE	.	.	.	.	.	ENSP00000378601	.	.	.	.	.	.	.	.	.	.	rs750042198	.	PASS	ENST00000395172	Transcript	.	.	ENSG00000177335	26731	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CH031_HUMAN	C8orf31	HGNC	.	.	UPI0000073580	SNV	C8orf31,splice_donor_variant,,ENST00000395172,;C8orf31,splice_donor_variant,,ENST00000517653,;C8orf31,intron_variant,,ENST00000519775,;C8orf31,downstream_gene_variant,,ENST00000523766,;C8orf31,downstream_gene_variant,,ENST00000523099,;C8orf31,splice_donor_variant,,ENST00000524181,;C8orf31,splice_donor_variant,,ENST00000520786,;	.	26	24	SUCCESS
RHPN1	114822	.	GRCh37	8	144460480	144460480	+	synonymous_variant	Silent	SNP	C	C	T	rs765617981	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	49	0	ENST00000289013.6:c.423C>T	p.Tyr141=	p.Y141=	ENST00000289013	NM_052924.2	141	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS47927.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTACGAGGC	NONE	byFrequency	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23031:SF6,hmmpanther:PTHR23031,Gene3D:2xs1A01,Pfam_domain:PF03097,SMART_domains:SM01041	.	.	ENSP00000289013	.	5/15	.	.	.	.	.	.	.	.	rs765617981	5/15	PASS	ENST00000289013	Transcript	.	.	ENSG00000158106	19973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHPN1_HUMAN	RHPN1	HGNC	.	.	UPI0000071870	SNV	RHPN1,synonymous_variant,p.%3D,ENST00000289013,;RHPN1,non_coding_transcript_exon_variant,,ENST00000522335,;RHPN1,upstream_gene_variant,,ENST00000522899,;	524	49	62	SUCCESS
GSDMD	79792	.	GRCh37	8	144644198	144644198	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	21	0	ENST00000262580.4:c.893C>G	p.Ser298Cys	p.S298C	ENST00000262580	NM_024736.6	298	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS34956.1	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCAAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04598,hmmpanther:PTHR16399:SF15,hmmpanther:PTHR16399	.	.	ENSP00000433209	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000526406	Transcript	.	.	ENSG00000104518	25697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	deleterious(0.01)	.	GSDMD_HUMAN	GSDMD	HGNC	E9PRF1_HUMAN,E9PQR9_HUMAN,E9PQ48_HUMAN,E9PNZ0_HUMAN,B3KTX1_HUMAN	.	UPI00001291ED	SNV	GSDMD,missense_variant,p.Ser298Cys,ENST00000262580,;GSDMD,missense_variant,p.Ser298Cys,ENST00000526406,;GSDMD,missense_variant,p.Ser346Cys,ENST00000533063,;GSDMD,downstream_gene_variant,,ENST00000533348,;GSDMD,downstream_gene_variant,,ENST00000534018,;GSDMD,downstream_gene_variant,,ENST00000529854,;MROH6,downstream_gene_variant,,ENST00000533679,;GSDMD,upstream_gene_variant,,ENST00000525208,;MROH6,downstream_gene_variant,,ENST00000524906,;GSDMD,downstream_gene_variant,,ENST00000533888,;MROH6,downstream_gene_variant,,ENST00000534459,;GSDMD,downstream_gene_variant,,ENST00000525721,;MROH6,downstream_gene_variant,,ENST00000398882,;MROH6,downstream_gene_variant,,ENST00000532704,;GSDMD,non_coding_transcript_exon_variant,,ENST00000526469,;GSDMD,non_coding_transcript_exon_variant,,ENST00000534602,;GSDMD,non_coding_transcript_exon_variant,,ENST00000524846,;GSDMD,non_coding_transcript_exon_variant,,ENST00000531173,;GSDMD,non_coding_transcript_exon_variant,,ENST00000531184,;GSDMD,non_coding_transcript_exon_variant,,ENST00000528475,;MROH6,downstream_gene_variant,,ENST00000533120,;GSDMD,downstream_gene_variant,,ENST00000526051,;MROH6,downstream_gene_variant,,ENST00000533210,;	1776	21	28	SUCCESS
PCM1	5108	.	GRCh37	8	17794745	17794745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749673387	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	116	314	0	ENST00000325083.8:c.199G>A	p.Glu67Lys	p.E67K	ENST00000325083	NM_006197.3	67	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47812.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGGAGTCG	NONE	.	.	hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12	.	.	ENSP00000327077	.	4/39	.	.	.	.	.	.	.	.	rs749673387	4/39	PASS	ENST00000325083	Transcript	1	.	ENSG00000078674	8727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	PCM1_HUMAN	PCM1	HGNC	E5RGQ4_HUMAN	.	UPI0000210A25	SNV	PCM1,missense_variant,p.Glu67Lys,ENST00000325083,;PCM1,missense_variant,p.Glu67Lys,ENST00000518537,;PCM1,missense_variant,p.Glu67Lys,ENST00000519253,;PCM1,missense_variant,p.Glu67Lys,ENST00000524226,;PCM1,missense_variant,p.Glu67Lys,ENST00000517730,;PCM1,missense_variant,p.Glu67Lys,ENST00000523055,;PCM1,non_coding_transcript_exon_variant,,ENST00000518985,;PCM1,non_coding_transcript_exon_variant,,ENST00000518936,;PCM1,intron_variant,,ENST00000518930,;	638	315	254	SUCCESS
SH2D4A	63898	.	GRCh37	8	19250999	19250999	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	94	177	1	ENST00000265807.3:c.1219G>T	p.Gly407Cys	p.G407C	ENST00000265807	NM_022071.3	407	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS6009.1	1219	RADIA|VARSCANS	.	TCCTGGGCGTG	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR14388:SF5,hmmpanther:PTHR14388,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000265807	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000265807	Transcript	.	.	ENSG00000104611	26102	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SH24A_HUMAN	SH2D4A	HGNC	.	.	UPI000007372B	SNV	SH2D4A,missense_variant,p.Gly407Cys,ENST00000265807,;SH2D4A,missense_variant,p.Gly407Cys,ENST00000519207,;SH2D4A,missense_variant,p.Gly362Cys,ENST00000518040,;	1630	178	167	SUCCESS
BMP1	649	.	GRCh37	8	22051571	22051571	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	58	130	1	ENST00000306385.5:c.1181G>T	p.Gly394Val	p.G394V	ENST00000306385	NM_006129.4	394	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6026.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCCGCT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF305,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000305714	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000306385	Transcript	1	.	ENSG00000168487	1067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	BMP1_HUMAN	BMP1	HGNC	.	.	UPI0000049818	SNV	BMP1,missense_variant,p.Gly394Val,ENST00000306385,;BMP1,missense_variant,p.Gly394Val,ENST00000306349,;BMP1,missense_variant,p.Gly394Val,ENST00000397816,;BMP1,missense_variant,p.Gly394Val,ENST00000397814,;BMP1,splice_region_variant,,ENST00000354870,;BMP1,splice_region_variant,,ENST00000523749,;BMP1,missense_variant,p.Gly394Val,ENST00000471755,;BMP1,missense_variant,p.Gly394Val,ENST00000521385,;BMP1,missense_variant,p.Gly394Val,ENST00000520970,;BMP1,splice_region_variant,,ENST00000483364,;BMP1,splice_region_variant,,ENST00000518913,;BMP1,splice_region_variant,,ENST00000520626,;BMP1,splice_region_variant,,ENST00000520982,;BMP1,downstream_gene_variant,,ENST00000523457,;BMP1,upstream_gene_variant,,ENST00000517324,;BMP1,upstream_gene_variant,,ENST00000522332,;	1851	131	137	SUCCESS
EBF2	64641	.	GRCh37	8	25715971	25715971	+	synonymous_variant	Silent	SNP	G	G	A	rs151033193	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	168	411	0	ENST00000520164.1:c.1392C>T	p.Ser464=	p.S464=	ENST00000520164	NM_022659.3	464	agC/agT	0	A:0.0002	A:0.0015	.	A:0	.	A	S	protein_coding	YES	CCDS43726.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGCTGGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10747	A:0	A:0	ENSP00000430241	A:0	14/16	.	.	.	.	.	.	.	.	rs151033193	14/16	PASS	ENST00000520164	Transcript	.	A:0.0004	ENSG00000221818	19090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	COE2_HUMAN	EBF2	HGNC	B7Z934_HUMAN,B2RNT0_HUMAN	.	UPI0000DD7EC9	SNV	EBF2,synonymous_variant,p.%3D,ENST00000408929,;EBF2,synonymous_variant,p.%3D,ENST00000535548,;EBF2,synonymous_variant,p.%3D,ENST00000520164,;	1930	411	353	SUCCESS
FZD3	7976	.	GRCh37	8	28360311	28360311	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	15	0	ENST00000240093.3:c.-220A>G		p.*74*	ENST00000240093	NM_017412.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6069.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAAGATGA	NONE	.	.	.	.	.	ENSP00000240093	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000240093	Transcript	.	.	ENSG00000104290	4041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD3_HUMAN	FZD3	HGNC	E5RGI9_HUMAN	.	UPI000003156A	SNV	FZD3,5_prime_UTR_variant,,ENST00000537916,;FZD3,5_prime_UTR_variant,,ENST00000240093,;FZD3,5_prime_UTR_variant,,ENST00000523546,;MIR4288,downstream_gene_variant,,ENST00000582598,;	259	15	19	SUCCESS
KCNU1	157855	.	GRCh37	8	36691164	36691173	+	frameshift_variant	Frame_Shift_Del	DEL	TGAGGCGAGT	TGAGGCGAGT	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	TGAGGCGAGT	TGAGGCGAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	236	120	613	0	ENST00000399881.3:c.1201_1210del	p.Arg402TrpfsTer8	p.R402Wfs*8	ENST00000399881	NM_001031836.2	400	cTGAGGCGAGTt/ct	0	.	.	.	.	.	-	LRRV/X	protein_coding	YES	CCDS55220.1	1199-1208	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGATCTGAGGCGAGTTGCGG	NONE	.	.	Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	deletion	KCNU1,frameshift_variant,p.Arg402TrpfsTer8,ENST00000399881,;KCNU1,frameshift_variant,p.Arg402TrpfsTer8,ENST00000522372,;	1236-1245	613	356	SUCCESS
BAG4	9530	.	GRCh37	8	38067967	38067967	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	45	142	0	ENST00000287322.4:c.1330A>C	p.Lys444Gln	p.K444Q	ENST00000287322	NM_004874.3	444	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS6104.1	1330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTAAGATT	NONE	.	.	PROSITE_profiles:PS51035,hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329,Gene3D:1.20.58.120,Pfam_domain:PF02179,SMART_domains:SM00264,Superfamily_domains:SSF63491	.	.	ENSP00000287322	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000287322	Transcript	.	.	ENSG00000156735	940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	BAG4_HUMAN	BAG4	HGNC	.	.	UPI0000126769	SNV	BAG4,missense_variant,p.Lys444Gln,ENST00000287322,;BAG4,missense_variant,p.Lys408Gln,ENST00000432471,;BAG4,downstream_gene_variant,,ENST00000521311,;BAG4,downstream_gene_variant,,ENST00000521282,;	1601	142	109	SUCCESS
AP3M2	10947	.	GRCh37	8	42022613	42022614	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	279	129	264	0	ENST00000174653.3:c.613dup	p.Val205GlyfsTer3	p.V205Gfs*3	ENST00000174653	NM_006803.3	203	cag/caGg	0	.	.	.	.	.	G	Q/QX	protein_coding	YES	CCDS6125.1	608-609	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCCAGGGGG	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF20,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852	.	.	ENSP00000428787	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000518421	Transcript	.	.	ENSG00000070718	570	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP3M2_HUMAN	AP3M2	HGNC	H0YBM0_HUMAN,E5RJ52_HUMAN,E5RI83_HUMAN	.	UPI0000125033	insertion	AP3M2,frameshift_variant,p.Val205GlyfsTer3,ENST00000518421,;AP3M2,frameshift_variant,p.Val205GlyfsTer3,ENST00000396926,;AP3M2,frameshift_variant,p.Val205GlyfsTer3,ENST00000174653,;AP3M2,frameshift_variant,p.Val68GlyfsTer3,ENST00000517499,;AP3M2,frameshift_variant,p.Val90GlyfsTer3,ENST00000521280,;AP3M2,frameshift_variant,p.Val205GlyfsTer3,ENST00000517922,;AP3M2,upstream_gene_variant,,ENST00000522606,;AP3M2,intron_variant,,ENST00000520685,;AP3M2,frameshift_variant,p.Val205GlyfsTer3,ENST00000530375,;AP3M2,3_prime_UTR_variant,,ENST00000517865,;AP3M2,non_coding_transcript_exon_variant,,ENST00000521899,;AP3M2,non_coding_transcript_exon_variant,,ENST00000523249,;AP3M2,upstream_gene_variant,,ENST00000522320,;AP3M2,upstream_gene_variant,,ENST00000520689,;	899-900	264	408	SUCCESS
DEFA4	1669	.	GRCh37	8	6793612	6793612	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs769382429	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	41	62	0	ENST00000297435.2:c.224C>G	p.Thr75Arg	p.T75R	ENST00000297435	NM_001925.1	75	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS5961.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTGTTCGC	NONE	.	.	hmmpanther:PTHR11876:SF23,hmmpanther:PTHR11876,PROSITE_patterns:PS00269,Pfam_domain:PF00323,SMART_domains:SM00048,PIRSF_domain:PIRSF001875	.	.	ENSP00000297435	.	3/3	.	.	.	.	.	.	.	.	rs769382429	3/3	PASS	ENST00000297435	Transcript	.	.	ENSG00000164821	2763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	tolerated(0.58)	.	DEF4_HUMAN	DEFA4	HGNC	Q6EZF8_HUMAN	.	UPI0000034C36	SNV	DEFA4,missense_variant,p.Thr75Arg,ENST00000297435,;	349	62	92	SUCCESS
CSPP1	79848	.	GRCh37	8	68105731	68105731	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	87	198	0	ENST00000262210.5:c.3348T>G	p.Gly1116=	p.G1116=	ENST00000262210	NM_024790.6	1116	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS43744.1	3348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTCTCTC	NONE	.	.	hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616	.	.	ENSP00000262210	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	CSPP1,synonymous_variant,p.%3D,ENST00000262210,;CSPP1,synonymous_variant,p.%3D,ENST00000412460,;CSPP1,synonymous_variant,p.%3D,ENST00000519668,;ARFGEF1,intron_variant,,ENST00000520381,;ARFGEF1,downstream_gene_variant,,ENST00000262215,;CSPP1,non_coding_transcript_exon_variant,,ENST00000521324,;CSPP1,intron_variant,,ENST00000521168,;ARFGEF1,intron_variant,,ENST00000522878,;ARFGEF1,downstream_gene_variant,,ENST00000517955,;ARFGEF1,downstream_gene_variant,,ENST00000518290,;	3379	198	188	SUCCESS
PRAG1	0	.	GRCh37	8	8185737	8185737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	56	0	ENST00000520004.1:c.2555C>A	p.Thr852Asn	p.T852N	ENST00000520004		852	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS43706.1	2555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTGGTTTCC	NONE	.	.	hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972	.	.	ENSP00000428054	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000520004	Transcript	.	.	ENSG00000182319	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	.	.	SG223_HUMAN	SGK223	Uniprot_gn	.	.	UPI00001D82A6	SNV	SGK223,missense_variant,p.Thr852Asn,ENST00000520004,;SGK223,missense_variant,p.Thr852Asn,ENST00000330777,;	2820	56	70	SUCCESS
NECAB1	64168	.	GRCh37	8	91946573	91946573	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	113	524	0	ENST00000417640.2:c.735G>C	p.Gly245=	p.G245=	ENST00000417640	NM_022351.4	245	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS47889.1	735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGAATAC	NONE	.	.	hmmpanther:PTHR12178:SF11,hmmpanther:PTHR12178	.	.	ENSP00000387380	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000417640	Transcript	.	.	ENSG00000123119	20983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NECA1_HUMAN	NECAB1	HGNC	.	.	UPI0000070EEA	SNV	NECAB1,synonymous_variant,p.%3D,ENST00000417640,;	1072	524	305	SUCCESS
CCDC180	100499483	.	GRCh37	9	100056292	100056292	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	54	150	0	ENST00000375202.2:c.-268C>T		p.*90*	ENST00000375202				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35077.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCTGCCT	NONE	.	.	.	.	.	ENSP00000364348	.	13/51	.	.	.	.	.	.	.	.	.	13/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,synonymous_variant,p.%3D,ENST00000357054,;CCDC180,synonymous_variant,p.%3D,ENST00000375205,;CCDC180,synonymous_variant,p.%3D,ENST00000395220,;CCDC180,5_prime_UTR_variant,,ENST00000375202,;CCDC180,5_prime_UTR_variant,,ENST00000411667,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;RP11-23J9.5,non_coding_transcript_exon_variant,,ENST00000375204,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;RP11-23J9.4,intron_variant,,ENST00000532526,;RP11-23J9.5,downstream_gene_variant,,ENST00000527128,;RP11-23J9.7,non_coding_transcript_exon_variant,,ENST00000531758,;	1085	150	138	SUCCESS
ABCA1	19	.	GRCh37	9	107584777	107584777	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	44	98	0	ENST00000374736.3:c.2828T>C	p.Met943Thr	p.M943T	ENST00000374736	NM_005502.3	943	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS6762.1	2828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACATGGTG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000363868	.	19/50	.	.	.	.	.	.	.	.	.	19/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Met943Thr,ENST00000374736,;ABCA1,downstream_gene_variant,,ENST00000494467,;	3223	98	82	SUCCESS
PTPN3	5774	.	GRCh37	9	112185130	112185130	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs376647767	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	169	0	ENST00000374541.2:c.1004C>T	p.Ser335Leu	p.S335L	ENST00000374541	NM_001145368.1	335	tCg/tTg	0	A:0	.	.	.	.	A	S/L	protein_coding	YES	CCDS6776.1	1004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGACCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF50729	.	A:0.0001	ENSP00000363667	.	13/26	.	.	.	.	.	.	.	.	rs376647767	13/26	PASS	ENST00000374541	Transcript	.	.	ENSG00000070159	9655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	PTN3_HUMAN	PTPN3	HGNC	B7Z8K9_HUMAN	.	UPI000013D2D2	SNV	PTPN3,missense_variant,p.Ser204Leu,ENST00000412145,;PTPN3,missense_variant,p.Ser335Leu,ENST00000374541,;PTPN3,intron_variant,,ENST00000446349,;PTPN3,intron_variant,,ENST00000262539,;	1109	169	151	SUCCESS
OR1L8	138881	.	GRCh37	9	125329852	125329852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	146	0	ENST00000304865.2:c.905G>T	p.Arg302Met	p.R302M	ENST00000304865	NM_001004454.1	302	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS35124.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTCAGG	NONE	.	.	hmmpanther:PTHR26451:SF277,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000306607	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304865	Transcript	.	.	ENSG00000171496	15110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	OR1L8_HUMAN	OR1L8	HGNC	.	.	UPI0000041CB7	SNV	OR1L8,missense_variant,p.Arg302Met,ENST00000304865,;	987	146	92	SUCCESS
ABCA2	20	.	GRCh37	9	139904510	139904510	+	synonymous_variant	Silent	SNP	G	G	A	rs748279912	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	28	0	ENST00000341511.6:c.6420C>T	p.Phe2140=	p.F2140=	ENST00000341511	NM_212533.2	2140	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS43909.1	6420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCGAACAG	NONE	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116,PROSITE_profiles:PS50893	.	.	ENSP00000344155	.	42/49	.	.	.	.	.	.	.	.	rs748279912	42/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,synonymous_variant,p.%3D,ENST00000371605,;ABCA2,synonymous_variant,p.%3D,ENST00000341511,;ABCA2,synonymous_variant,p.%3D,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000490486,;ABCA2,upstream_gene_variant,,ENST00000448336,;ABCA2,non_coding_transcript_exon_variant,,ENST00000437791,;ABCA2,non_coding_transcript_exon_variant,,ENST00000463603,;ABCA2,upstream_gene_variant,,ENST00000464157,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;	6470	28	30	SUCCESS
FREM1	158326	.	GRCh37	9	14816837	14816837	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs967367549	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	60	0	ENST00000380880.3:c.2579A>G	p.Asp860Gly	p.D860G	ENST00000380880		860	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS47952.1	2579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCCTGA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24	.	.	ENSP00000412940	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,missense_variant,p.Asp861Gly,ENST00000380881,;FREM1,missense_variant,p.Asp860Gly,ENST00000380880,;FREM1,missense_variant,p.Asp860Gly,ENST00000422223,;FREM1,missense_variant,p.Asp860Gly,ENST00000380875,;	3395	60	63	SUCCESS
TLN1	7094	.	GRCh37	9	35697837	35697837	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1314310484	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	306	159	376	0	ENST00000314888.9:c.7577G>A	p.Arg2526Gln	p.R2526Q	ENST00000314888	NM_006289.3	2526	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS35009.1	7577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGGATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,SMART_domains:SM00307,Pfam_domain:PF01608,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981,PROSITE_profiles:PS50945	.	.	ENSP00000316029	.	57/57	.	.	.	.	.	.	.	.	.	57/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0.03)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Arg2526Gln,ENST00000314888,;TLN1,missense_variant,p.Arg2414Gln,ENST00000540444,;TLN1,downstream_gene_variant,,ENST00000489255,;	7931	376	466	SUCCESS
TMEM8B	51754	.	GRCh37	9	35841793	35841793	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	76	189	0	ENST00000377988.2:c.-48+2T>A		p.X16_splice	ENST00000377988	NM_001042590.2	16		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43800.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTCAGAA	NONE	.	.	.	.	.	ENSP00000367227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377988	Transcript	.	.	ENSG00000137103	21427	.	.	HIGH	5/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM8B_HUMAN	TMEM8B	HGNC	.	.	UPI00002113B9	SNV	TMEM8B,splice_donor_variant,,ENST00000377996,;TMEM8B,splice_donor_variant,,ENST00000439587,;TMEM8B,splice_donor_variant,,ENST00000377988,;TMEM8B,splice_donor_variant,,ENST00000377991,;TMEM8B,splice_donor_variant,,ENST00000464519,;TMEM8B,intron_variant,,ENST00000490199,;TMEM8B,intron_variant,,ENST00000473947,;TMEM8B,downstream_gene_variant,,ENST00000472010,;	.	189	185	SUCCESS
ZNF510	22869	.	GRCh37	9	99522164	99522164	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	105	283	0	ENST00000223428.4:c.948A>G	p.Lys316=	p.K316=	ENST00000223428	NM_014930.1	316	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS35074.1	948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGATTTCCC	NONE	.	.	hmmpanther:PTHR24392:SF21,hmmpanther:PTHR24392	.	.	ENSP00000364379	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000375231	Transcript	.	.	ENSG00000081386	29161	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN510_HUMAN	ZNF510	HGNC	Q6NUI8_HUMAN	.	UPI0000139E9E	SNV	ZNF510,synonymous_variant,p.%3D,ENST00000375231,;ZNF510,synonymous_variant,p.%3D,ENST00000223428,;ZNF510,downstream_gene_variant,,ENST00000374641,;ZNF510,downstream_gene_variant,,ENST00000472201,;	1599	283	205	SUCCESS
TLR7	51284	.	GRCh37	X	12905757	12905757	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	45	135	1	ENST00000380659.3:c.2130A>G	p.Gln710=	p.Q710=	ENST00000380659	NM_016562.3	710	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS14151.1	2130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAACTGAC	NONE	.	.	Prints_domain:PR00019,Superfamily_domains:SSF52058,SMART_domains:SM00365,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	.	.	ENSP00000370034	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380659	Transcript	.	.	ENSG00000196664	15631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR7_HUMAN	TLR7	HGNC	B2R9N9_HUMAN	.	UPI000004BAF6	SNV	TLR7,synonymous_variant,p.%3D,ENST00000380659,;	2269	136	86	SUCCESS
NHS	4810	.	GRCh37	X	17710579	17710579	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	68	138	0	ENST00000380060.3:c.843del	p.Leu283Ter	p.L283*	ENST00000380060	NM_198270.2	281	caC/ca	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS14181.1	843	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGTCACTTTTT	NONE	.	.	hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039	.	.	ENSP00000369400	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000380060	Transcript	.	.	ENSG00000188158	7820	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NHS_HUMAN	NHS	HGNC	.	.	UPI00001DFBF3	deletion	NHS,frameshift_variant,p.Leu283Ter,ENST00000380060,;NHS,frameshift_variant,p.Leu106Ter,ENST00000398097,;	1181	138	169	SUCCESS
CNKSR2	22866	.	GRCh37	X	21627708	21627708	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	20	20	0	ENST00000379510.3:c.2665G>T	p.Ala889Ser	p.A889S	ENST00000379510	NM_014927.3	889	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14198.1	2665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21	.	.	ENSP00000368824	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000379510	Transcript	.	.	ENSG00000149970	19701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.76)	.	CNKR2_HUMAN	CNKSR2	HGNC	.	.	UPI0000070D72	SNV	CNKSR2,missense_variant,p.Ala889Ser,ENST00000379510,;CNKSR2,missense_variant,p.Ala859Ser,ENST00000425654,;CNKSR2,missense_variant,p.Ala840Ser,ENST00000543067,;CNKSR2,missense_variant,p.Ala889Ser,ENST00000279451,;	2701	20	27	SUCCESS
AR	367	.	GRCh37	X	66766453	66766453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	43	0	ENST00000374690.3:c.1465G>A	p.Gly489Arg	p.G489R	ENST00000374690	NM_000044.3	489	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14387.1	1465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGGGCTG	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084	.	.	ENSP00000363822	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious_low_confidence(0)	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	SNV	AR,missense_variant,p.Gly489Arg,ENST00000504326,;AR,missense_variant,p.Gly489Arg,ENST00000396044,;AR,missense_variant,p.Gly489Arg,ENST00000374690,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,missense_variant,p.Gly489Arg,ENST00000514029,;	1989	43	43	SUCCESS
DLG3	1741	.	GRCh37	X	69669639	69669639	+	synonymous_variant	Silent	SNP	A	A	G	rs750963382	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	80	0	ENST00000374360.3:c.633A>G	p.Arg211=	p.R211=	ENST00000374360	NM_021120.3	211	cgA/cgG	0	.	G:0	.	G:0.0014	.	G	R	protein_coding	YES	CCDS14403.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGATTGGT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50106,hmmpanther:PTHR23119:SF7,hmmpanther:PTHR23119,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50156	G:0	.	ENSP00000363480	G:0	4/19	.	.	.	.	.	.	.	.	rs750963382	4/19	PASS	ENST00000374360	Transcript	.	G:0.0003	ENSG00000082458	2902	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,synonymous_variant,p.%3D,ENST00000194900,;DLG3,synonymous_variant,p.%3D,ENST00000374360,;DLG3,upstream_gene_variant,,ENST00000374355,;RNU4-81P,upstream_gene_variant,,ENST00000363561,;DLG3-AS1,downstream_gene_variant,,ENST00000431103,;DLG3-AS1,downstream_gene_variant,,ENST00000424211,;DLG3,non_coding_transcript_exon_variant,,ENST00000463252,;	866	80	67	SUCCESS
INGX	27160	.	GRCh37	X	70712062	70712062	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	30	0	ENST00000359239.3:n.717G>T		p.*239*	ENST00000359239				0	.	.	.	.	.	A	.	misc_RNA	YES	.	.	RADIA|MUTECT|MUSE	.	CGGAACCACTC	NONE	.	1045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362881	Transcript	.	.	ENSG00000199751	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	Y_RNA	RFAM	.	.	.	SNV	Y_RNA,upstream_gene_variant,,ENST00000362881,;INGX,non_coding_transcript_exon_variant,,ENST00000489074,;TAF1,intron_variant,,ENST00000485087,;TAF1,intron_variant,,ENST00000468167,;TAF1,intron_variant,,ENST00000461764,;TAF1,intron_variant,,ENST00000467309,;TAF1,intron_variant,,ENST00000462588,;TAF1,upstream_gene_variant,,ENST00000497222,;TAF1,intron_variant,,ENST00000437147,;TAF1,intron_variant,,ENST00000373775,;INGX,non_coding_transcript_exon_variant,,ENST00000510256,;INGX,non_coding_transcript_exon_variant,,ENST00000359239,;	.	30	11	SUCCESS
INGX	27160	.	GRCh37	X	70712063	70712063	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	30	0	ENST00000359239.3:n.716G>T		p.*239*	ENST00000359239				0	.	.	.	.	.	A	.	misc_RNA	YES	.	.	RADIA|MUTECT|MUSE	.	GGAACCACTCG	NONE	.	1046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362881	Transcript	.	.	ENSG00000199751	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	Y_RNA	RFAM	.	.	.	SNV	Y_RNA,upstream_gene_variant,,ENST00000362881,;INGX,non_coding_transcript_exon_variant,,ENST00000489074,;TAF1,intron_variant,,ENST00000485087,;TAF1,intron_variant,,ENST00000468167,;TAF1,intron_variant,,ENST00000461764,;TAF1,intron_variant,,ENST00000467309,;TAF1,intron_variant,,ENST00000462588,;TAF1,upstream_gene_variant,,ENST00000497222,;TAF1,intron_variant,,ENST00000437147,;TAF1,intron_variant,,ENST00000373775,;INGX,non_coding_transcript_exon_variant,,ENST00000510256,;INGX,non_coding_transcript_exon_variant,,ENST00000359239,;	.	30	11	SUCCESS
MAGEE2	139599	.	GRCh37	X	75005070	75005070	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	50	132	0	ENST00000373359.2:c.-184A>G		p.*62*	ENST00000373359	NM_138703.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14431.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTCAGAG	NONE	.	.	.	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,5_prime_UTR_variant,,ENST00000373359,;	10	133	100	SUCCESS
EDRF1	26098	.	GRCh37	10	127426555	127426555	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	67	244	0	ENST00000356792.4:c.1827A>G	p.Leu609=	p.L609=	ENST00000356792	NM_001202438.1	609	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS55733.1	1827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTAGAGGT	NONE	.	.	hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000	.	.	ENSP00000349244	.	14/25	.	.	.	.	.	.	.	.	COSM537648,COSM1638468,COSM1648633,COSM1638467	14/25	PASS	ENST00000356792	Transcript	.	.	ENSG00000107938	24640	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	1,1,1,1	EDRF1_HUMAN	EDRF1	HGNC	.	.	UPI00005CA2E3	SNV	EDRF1,synonymous_variant,p.%3D,ENST00000356792,;EDRF1,synonymous_variant,p.%3D,ENST00000337623,;EDRF1,synonymous_variant,p.%3D,ENST00000368813,;EDRF1,synonymous_variant,p.%3D,ENST00000419769,;EDRF1,3_prime_UTR_variant,,ENST00000368815,;EDRF1,3_prime_UTR_variant,,ENST00000481600,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;EDRF1,downstream_gene_variant,,ENST00000530795,;	2059	244	189	SUCCESS
RAB18	22931	.	GRCh37	10	27826828	27826828	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	88	0	ENST00000356940.6:c.469G>A	p.Gly157Ser	p.G157S	ENST00000356940	NM_001256410.1	157	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7155.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATGGTGTA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF341,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000349415	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000356940	Transcript	1	.	ENSG00000099246	14244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RAB18_HUMAN	RAB18	HGNC	B7Z5V3_HUMAN	.	UPI0000000A00	SNV	RAB18,missense_variant,p.Gly157Ser,ENST00000356940,;RAB18,missense_variant,p.Gly112Ser,ENST00000375802,;RAB18,missense_variant,p.Gly93Ser,ENST00000535776,;RAB18,missense_variant,p.Gly270Ser,ENST00000423465,;RAB18,non_coding_transcript_exon_variant,,ENST00000465772,;	571	88	68	SUCCESS
SYT15	83849	.	GRCh37	10	46968625	46968625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	17	0	ENST00000374321.4:c.311G>T	p.Cys104Phe	p.C104F	ENST00000374321	NM_031912.4	104	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS44376.1	311	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCAGGGG	NONE	.	.	hmmpanther:PTHR10024:SF185,hmmpanther:PTHR10024	.	.	ENSP00000363441	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000374321	Transcript	.	.	ENSG00000204176	17167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.51)	.	SYT15_HUMAN	SYT15	HGNC	.	.	UPI00001AA161	SNV	SYT15,missense_variant,p.Cys104Phe,ENST00000503753,;SYT15,missense_variant,p.Cys104Phe,ENST00000374321,;SYT15,missense_variant,p.Cys157Phe,ENST00000374323,;SYT15,missense_variant,p.Cys104Phe,ENST00000374325,;SYT15,intron_variant,,ENST00000512997,;SYT15,upstream_gene_variant,,ENST00000374328,;RP11-38L15.3,downstream_gene_variant,,ENST00000506914,;	378	17	21	SUCCESS
AKR1C3	8644	.	GRCh37	10	5144299	5144299	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1554786102	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	52	182	1	ENST00000380554.3:c.577T>C	p.Cys193Arg	p.C193R	ENST00000380554	NM_003739.5	193	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS7063.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAATGTCAT	NONE	.	.	hmmpanther:PTHR11732:SF201,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000369927	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000380554	Transcript	.	.	ENSG00000196139	386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	AK1C3_HUMAN	AKR1C3	HGNC	B4DL37_HUMAN	.	UPI0000140951	SNV	AKR1C3,missense_variant,p.Cys193Arg,ENST00000380554,;AKR1C3,missense_variant,p.Cys74Arg,ENST00000439082,;AKR1C3,missense_variant,p.Cys170Arg,ENST00000605149,;AKR1C3,downstream_gene_variant,,ENST00000602997,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000605781,;AKR1C3,downstream_gene_variant,,ENST00000480822,;AKR1C3,downstream_gene_variant,,ENST00000470862,;AKR1C3,upstream_gene_variant,,ENST00000603484,;AKR1C3,downstream_gene_variant,,ENST00000603312,;AKR1C3,downstream_gene_variant,,ENST00000480697,;AKR1C3,downstream_gene_variant,,ENST00000605322,;	1229	183	134	SUCCESS
VPS26B	112936	.	GRCh37	11	134113163	134113163	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	75	0	ENST00000281187.5:c.696G>A	p.Glu232=	p.E232=	ENST00000281187	NM_052875.3	232	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS8495.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGAGATCAT	NONE	.	.	hmmpanther:PTHR12233:SF5,hmmpanther:PTHR12233,Pfam_domain:PF03643	.	.	ENSP00000281187	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000281187	Transcript	.	.	ENSG00000151502	28119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP26B_HUMAN	VPS26B	HGNC	.	.	UPI000006DC43	SNV	VPS26B,synonymous_variant,p.%3D,ENST00000525095,;VPS26B,synonymous_variant,p.%3D,ENST00000281187,;VPS26B,downstream_gene_variant,,ENST00000530402,;VPS26B,3_prime_UTR_variant,,ENST00000527586,;VPS26B,downstream_gene_variant,,ENST00000525918,;VPS26B,upstream_gene_variant,,ENST00000531741,;	1174	75	39	SUCCESS
E2F8	79733	.	GRCh37	11	19251120	19251120	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	166	1	ENST00000250024.4:c.1774A>T	p.Lys592Ter	p.K592*	ENST00000250024	NM_024680.3	592	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS7849.1	1774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTTTGCCC	NONE	.	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF40	.	.	ENSP00000434199	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000527884	Transcript	.	.	ENSG00000129173	24727	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2F8_HUMAN	E2F8	HGNC	E9PMT9_HUMAN	.	UPI00001F9E94	SNV	E2F8,stop_gained,p.Lys592Ter,ENST00000527884,;E2F8,stop_gained,p.Lys592Ter,ENST00000250024,;RP11-428C19.4,intron_variant,,ENST00000527978,;E2F8,upstream_gene_variant,,ENST00000529188,;	2007	167	115	SUCCESS
GLT8D2	83468	.	GRCh37	12	104396997	104396997	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	134	0	ENST00000360814.4:c.200C>T	p.Ala67Val	p.A67V	ENST00000360814	NM_031302.3	67	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9096.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAGCCATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448	.	.	ENSP00000354053	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000360814	Transcript	.	.	ENSG00000120820	24890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	.	deleterious(0.01)	.	GL8D2_HUMAN	GLT8D2	HGNC	F8VZP2_HUMAN	.	UPI000004B633	SNV	GLT8D2,missense_variant,p.Ala6Val,ENST00000546851,;GLT8D2,missense_variant,p.Ala67Val,ENST00000360814,;GLT8D2,missense_variant,p.Ala67Val,ENST00000548660,;GLT8D2,missense_variant,p.Ala67Val,ENST00000546436,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000550816,;	606	135	112	SUCCESS
SLC8B1	80024	.	GRCh37	12	113758428	113758428	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	30	0	ENST00000202831.3:c.484T>C	p.Ser162Pro	p.S162P	ENST00000202831	NM_024959.2	162	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS31909.1	484	RADIA|VARSCANS	.	GTCAGAGAAGG	NONE	.	.	hmmpanther:PTHR12266,hmmpanther:PTHR12266:SF0,Pfam_domain:PF01699	.	.	ENSP00000447091	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000552014	Transcript	.	.	ENSG00000089060	26175	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NCKX6_HUMAN	SLC8B1	HGNC	F8VWW9_HUMAN,F8VTU4_HUMAN,F8VR99_HUMAN	.	UPI000004FA44	SNV	SLC8B1,missense_variant,p.Ser162Pro,ENST00000552014,;SLC8B1,missense_variant,p.Ser162Pro,ENST00000202831,;SLC8B1,missense_variant,p.Ser162Pro,ENST00000549181,;SLC8B1,missense_variant,p.Ser162Pro,ENST00000546737,;SLC8B1,downstream_gene_variant,,ENST00000548186,;SLC8B1,downstream_gene_variant,,ENST00000549372,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000553238,;SLC8B1,intron_variant,,ENST00000551230,;SLC8B1,missense_variant,p.Ser32Pro,ENST00000550672,;SLC8B1,3_prime_UTR_variant,,ENST00000549605,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000548477,;SLC8B1,upstream_gene_variant,,ENST00000552565,;SLC8B1,downstream_gene_variant,,ENST00000552613,;	1000	30	33	SUCCESS
PIWIL1	9271	.	GRCh37	12	130834407	130834407	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	91	0	ENST00000245255.3:c.939C>T	p.Asn313=	p.N313=	ENST00000245255	NM_004764.4	313	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS9268.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAACAATAA	NONE	.	.	Superfamily_domains:SSF101690,SMART_domains:SM00949,Pfam_domain:PF02170,Gene3D:2.170.260.10,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31,PROSITE_profiles:PS50821	.	.	ENSP00000245255	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000245255	Transcript	.	.	ENSG00000125207	9007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL1_HUMAN	PIWIL1	HGNC	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN	.	UPI000007059F	SNV	PIWIL1,synonymous_variant,p.%3D,ENST00000245255,;PIWIL1,downstream_gene_variant,,ENST00000546060,;PIWIL1,downstream_gene_variant,,ENST00000542723,;PIWIL1,downstream_gene_variant,,ENST00000539995,;PIWIL1,downstream_gene_variant,,ENST00000539400,;PIWIL1,downstream_gene_variant,,ENST00000540672,;PIWIL1,downstream_gene_variant,,ENST00000535956,;	1211	91	57	SUCCESS
GRIN2B	2904	.	GRCh37	12	13716219	13716219	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	69	154	0	ENST00000609686.1:c.3953C>G	p.Ala1318Gly	p.A1318G	ENST00000609686	NM_000834.3	1318	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS8662.1	3953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCCAGG	NONE	.	.	Pfam_domain:PF10565	.	.	ENSP00000477455	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000609686	Transcript	.	.	ENSG00000273079	4586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	tolerated(0.12)	.	NMDE2_HUMAN	GRIN2B	HGNC	Q59HA9_HUMAN	.	UPI000013026C	SNV	GRIN2B,missense_variant,p.Ala1318Gly,ENST00000609686,;	4163	154	147	SUCCESS
CNTN1	1272	.	GRCh37	12	41410483	41410483	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	45	113	0	ENST00000347616.1:c.2185-1G>A		p.X729_splice	ENST00000347616		729		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8737.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAGCCTTT	NONE	.	.	.	.	.	ENSP00000447006	.	.	.	.	.	.	.	.	.	.	COSM3460539	.	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	HIGH	18/23	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,splice_acceptor_variant,,ENST00000551295,;CNTN1,splice_acceptor_variant,,ENST00000347616,;CNTN1,splice_acceptor_variant,,ENST00000348761,;CNTN1,splice_acceptor_variant,,ENST00000550305,;	.	113	102	SUCCESS
RBMS2	5939	.	GRCh37	12	56975266	56975266	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376730098	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	33	0	ENST00000262031.5:c.706C>T	p.Arg236Trp	p.R236W	ENST00000262031	NM_002898.3	236	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS8923.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGACGGGCT	NONE	.	.	hmmpanther:PTHR24011:SF257,hmmpanther:PTHR24011	.	T:0	ENSP00000262031	.	7/14	.	.	.	.	.	.	.	.	rs376730098	7/14	PASS	ENST00000262031	Transcript	.	.	ENSG00000076067	9909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.777)	.	deleterious(0)	.	RBMS2_HUMAN	RBMS2	HGNC	F8VV01_HUMAN	.	UPI000006EEB0	SNV	RBMS2,missense_variant,p.Arg236Trp,ENST00000552247,;RBMS2,missense_variant,p.Arg111Trp,ENST00000550726,;RBMS2,missense_variant,p.Arg236Trp,ENST00000262031,;RBMS2,missense_variant,p.Arg91Trp,ENST00000542360,;RBMS2,non_coding_transcript_exon_variant,,ENST00000552228,;RBMS2,3_prime_UTR_variant,,ENST00000552916,;	801	33	35	SUCCESS
USP15	9958	.	GRCh37	12	62775287	62775287	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	71	0	ENST00000280377.5:c.932C>T	p.Pro311Leu	p.P311L	ENST00000280377	NM_001252078.1	311	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS58251.1	932	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCTCCAC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000280377	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000280377	Transcript	.	.	ENSG00000135655	12613	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.747)	.	deleterious(0)	.	UBP15_HUMAN	USP15	HGNC	F8VZG8_HUMAN,F8VVY7_HUMAN	.	UPI00001379F8	SNV	USP15,missense_variant,p.Pro282Leu,ENST00000353364,;USP15,missense_variant,p.Pro286Leu,ENST00000393654,;USP15,missense_variant,p.Pro311Leu,ENST00000280377,;USP15,non_coding_transcript_exon_variant,,ENST00000547317,;USP15,non_coding_transcript_exon_variant,,ENST00000549268,;	990	71	59	SUCCESS
GPR12	2835	.	GRCh37	13	27332981	27332981	+	synonymous_variant	Silent	SNP	C	C	T	rs754587158	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	90	0	ENST00000381436.2:c.984G>A	p.Ala328=	p.A328=	ENST00000381436		328	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9319.1	984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGCGCTCT	BUFFER|p.R329C|c.985C>T|3	.	.	hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF8,Superfamily_domains:SSF81321	.	.	ENSP00000384932	.	2/2	.	.	.	.	.	.	.	.	rs754587158	2/2	PASS	ENST00000405846	Transcript	.	.	ENSG00000132975	4466	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR12_HUMAN	GPR12	HGNC	B4DG25_HUMAN,A8K2F5_HUMAN	.	UPI000003EC24	SNV	GPR12,synonymous_variant,p.%3D,ENST00000405846,;GPR12,synonymous_variant,p.%3D,ENST00000381436,;	1206	90	67	SUCCESS
MIR342	442909	.	GRCh37	14	100576054	100576054	+	mature_miRNA_variant	RNA	SNP	T	T	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	52	0	ENST00000362212.1:n.63T>G		p.*21*	ENST00000362212				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9955.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCTCACAC	NONE	.	.	.	.	.	ENSP00000376652	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392920	Transcript	.	.	ENSG00000196405	20234	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EVL_HUMAN	EVL	HGNC	Q499Z9_HUMAN,G3V5F7_HUMAN,G3V314_HUMAN,G3V2K5_HUMAN	.	UPI000002A92F	SNV	EVL,intron_variant,,ENST00000392920,;EVL,intron_variant,,ENST00000557153,;EVL,intron_variant,,ENST00000544450,;EVL,intron_variant,,ENST00000555706,;EVL,intron_variant,,ENST00000557384,;EVL,intron_variant,,ENST00000402714,;MIR342,non_coding_transcript_exon_variant,,ENST00000362212,;MIR151B,upstream_gene_variant,,ENST00000584249,;EVL,downstream_gene_variant,,ENST00000555048,;EVL,upstream_gene_variant,,ENST00000553910,;EVL,downstream_gene_variant,,ENST00000556921,;EVL,intron_variant,,ENST00000554045,;EVL,intron_variant,,ENST00000553875,;	.	52	41	SUCCESS
HECTD1	25831	.	GRCh37	14	31597908	31597908	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779029675	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	78	240	0	ENST00000399332.1:c.4669C>T	p.Arg1557Trp	p.R1557W	ENST00000399332	NM_015382.2	1557	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS41939.1	4669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCGTGCTA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	.	.	ENSP00000382269	.	25/43	.	.	.	.	.	.	.	.	rs779029675	25/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Arg984Trp,ENST00000553957,;HECTD1,missense_variant,p.Arg1557Trp,ENST00000399332,;HECTD1,missense_variant,p.Arg1557Trp,ENST00000553700,;HECTD1,intron_variant,,ENST00000557369,;HECTD1,upstream_gene_variant,,ENST00000554882,;HECTD1,non_coding_transcript_exon_variant,,ENST00000556004,;HECTD1,upstream_gene_variant,,ENST00000555915,;	5158	241	191	SUCCESS
TMEM260	54916	.	GRCh37	14	57083918	57083918	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	40	164	1	ENST00000261556.6:c.959C>T	p.Ser320Leu	p.S320L	ENST00000261556	NM_017799.3	320	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS9727.2	959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCATTAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16214	.	.	ENSP00000261556	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.14)	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,missense_variant,p.Ser320Leu,ENST00000261556,;TMEM260,missense_variant,p.Ser320Leu,ENST00000538838,;TMEM260,5_prime_UTR_variant,,ENST00000536419,;TMEM260,non_coding_transcript_exon_variant,,ENST00000553335,;TMEM260,missense_variant,p.Ser164Leu,ENST00000556422,;TMEM260,3_prime_UTR_variant,,ENST00000555497,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556648,;TMEM260,intron_variant,,ENST00000555905,;TMEM260,intron_variant,,ENST00000556929,;TMEM260,intron_variant,,ENST00000539559,;TMEM260,downstream_gene_variant,,ENST00000557626,;TMEM260,downstream_gene_variant,,ENST00000557657,;	1081	165	129	SUCCESS
RTN1	6252	.	GRCh37	14	60194386	60194386	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs775096884	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	50	0	ENST00000267484.5:c.1016A>G	p.Glu339Gly	p.E339G	ENST00000267484	NM_021136.2	339	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS9740.1	1016	MUTECT|VARSCANS	.	ATGGTTCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994	.	.	ENSP00000267484	.	3/9	.	.	.	.	.	.	.	.	rs775096884	3/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	deleterious(0.01)	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,missense_variant,p.Glu339Gly,ENST00000267484,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	1352	50	47	SUCCESS
SLC8A3	6547	.	GRCh37	14	70633754	70633754	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	30	0	ENST00000381269.2:c.1386G>A	p.Lys462=	p.K462=	ENST00000381269	NM_183002.1	462	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS35498.1	1386	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AACTCCTTCTG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000370669	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000381269	Transcript	.	.	ENSG00000100678	11070	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAC3_HUMAN	SLC8A3	HGNC	Q86TQ9_HUMAN	.	UPI0000073C9A	SNV	SLC8A3,synonymous_variant,p.%3D,ENST00000534137,;SLC8A3,synonymous_variant,p.%3D,ENST00000381269,;SLC8A3,synonymous_variant,p.%3D,ENST00000357887,;SLC8A3,synonymous_variant,p.%3D,ENST00000528359,;SLC8A3,synonymous_variant,p.%3D,ENST00000356921,;SLC8A3,synonymous_variant,p.%3D,ENST00000494208,;	2140	30	12	SUCCESS
MYO1E	4643	.	GRCh37	15	59450529	59450529	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	59	181	0	ENST00000288235.4:c.2835T>G	p.Thr945=	p.T945=	ENST00000288235	NM_004998.3	945	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS32254.1	2835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGAGTCCC	NONE	.	.	.	.	.	ENSP00000288235	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,synonymous_variant,p.%3D,ENST00000288235,;MYO1E,downstream_gene_variant,,ENST00000559269,;MYO1E,upstream_gene_variant,,ENST00000559412,;	3235	181	124	SUCCESS
PGPEP1L	145814	.	GRCh37	15	99512659	99512659	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	50	0	ENST00000378919.6:c.366A>G	p.Ala122=	p.A122=	ENST00000378919	NM_001102612.2	122	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS53977.1	366	RADIA|VARSCANS	.	CTGCCTGCATC	NONE	.	.	hmmpanther:PTHR23402:SF14,hmmpanther:PTHR23402,Pfam_domain:PF01470,Gene3D:3.40.630.20,Superfamily_domains:SSF53182	.	.	ENSP00000368199	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000378919	Transcript	.	.	ENSG00000183571	27080	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PGPIL_HUMAN	PGPEP1L	HGNC	H0YF86_HUMAN	.	UPI00006C1572	SNV	PGPEP1L,synonymous_variant,p.%3D,ENST00000378919,;PGPEP1L,synonymous_variant,p.%3D,ENST00000535714,;IGF1R,downstream_gene_variant,,ENST00000558762,;IGF1R,downstream_gene_variant,,ENST00000268035,;RP11-654A16.3,intron_variant,,ENST00000559468,;	572	50	17	SUCCESS
MYH1	4619	.	GRCh37	17	10404040	10404040	+	synonymous_variant	Silent	SNP	T	T	C	rs776455024	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	106	0	ENST00000226207.5:c.3768A>G	p.Leu1256=	p.L1256=	ENST00000226207	NM_005963.3	1256	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11155.1	3768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTAGAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	28/40	.	.	.	.	.	.	.	.	rs776455024	28/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3863	106	82	SUCCESS
KRTAP9-3	83900	.	GRCh37	17	39389083	39389083	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	152	1	ENST00000411528.2:c.330T>A	p.Ser110Arg	p.S110R	ENST00000411528	NM_031962.2	110	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS11385.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGTGTTTG	NONE	.	.	hmmpanther:PTHR23262:SF46,hmmpanther:PTHR23262	.	.	ENSP00000392189	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000411528	Transcript	.	.	ENSG00000204873	16927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	.	deleterious(0.01)	.	KRA93_HUMAN	KRTAP9-3	HGNC	.	.	UPI0000071C07	SNV	KRTAP9-3,missense_variant,p.Ser110Arg,ENST00000411528,;	369	154	92	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43530970	43530970	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	76	0	ENST00000430334.3:c.2248A>G	p.Thr750Ala	p.T750A	ENST00000430334	NM_014798.2	750	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32671.1	2248	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGTGATGA	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000389913	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000430334	Transcript	.	.	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Thr661Ala,ENST00000421073,;PLEKHM1,missense_variant,p.Thr750Ala,ENST00000430334,;AC091132.1,intron_variant,,ENST00000433601,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000580205,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,3_prime_UTR_variant,,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000582035,;	2382	76	44	SUCCESS
MAPT	4137	.	GRCh37	17	44051811	44051811	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	33	0	ENST00000262410.5:c.281A>G	p.His94Arg	p.H94R	ENST00000262410	NM_016835.4	94	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45715.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCACACGG	NONE	.	.	hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF14	.	.	ENSP00000340820	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000344290	Transcript	.	.	ENSG00000186868	6893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.04)	.	TAU_HUMAN	MAPT	HGNC	.	.	UPI0001AE66E9	SNV	MAPT,missense_variant,p.His94Arg,ENST00000262410,;MAPT,missense_variant,p.His94Arg,ENST00000574436,;MAPT,missense_variant,p.His94Arg,ENST00000571987,;MAPT,missense_variant,p.His94Arg,ENST00000415613,;MAPT,missense_variant,p.His94Arg,ENST00000535772,;MAPT,missense_variant,p.His94Arg,ENST00000351559,;MAPT,missense_variant,p.His94Arg,ENST00000344290,;MAPT,missense_variant,p.His94Arg,ENST00000431008,;MAPT,5_prime_UTR_variant,,ENST00000576518,;MAPT,intron_variant,,ENST00000334239,;MAPT,intron_variant,,ENST00000340799,;MAPT,intron_variant,,ENST00000446361,;MAPT,intron_variant,,ENST00000420682,;MAPT,intron_variant,,ENST00000347967,;MAPT,intron_variant,,ENST00000570299,;MAPT,intron_variant,,ENST00000571311,;MAPT,upstream_gene_variant,,ENST00000572440,;	603	33	32	SUCCESS
IGF2BP1	10642	.	GRCh37	17	47117454	47117454	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1413532884	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	72	0	ENST00000290341.3:c.818+1G>A		p.X273_splice	ENST00000290341	NM_006546.3	273		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11543.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACGTAAGT	NONE	.	.	.	.	.	ENSP00000290341	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290341	Transcript	.	.	ENSG00000159217	28866	.	.	HIGH	7/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B1_HUMAN	IGF2BP1	HGNC	D3DTW3_HUMAN	.	UPI0000117170	SNV	IGF2BP1,splice_donor_variant,,ENST00000290341,;IGF2BP1,intron_variant,,ENST00000431824,;RNU6-826P,downstream_gene_variant,,ENST00000516827,;IGF2BP1,downstream_gene_variant,,ENST00000499130,;IGF2BP1,downstream_gene_variant,,ENST00000515586,;IGF2BP1,downstream_gene_variant,,ENST00000505562,;RP11-501C14.7,downstream_gene_variant,,ENST00000511142,;	.	72	43	SUCCESS
TMEM92	162461	.	GRCh37	17	48351885	48351885	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	17	0	ENST00000300433.3:c.23G>A	p.Gly8Asp	p.G8D	ENST00000300433	NM_001168215.1	8	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS11562.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGGCCTCG	NONE	.	.	Cleavage_site_(Signalp):SignalP-TM	.	.	ENSP00000300433	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000300433	Transcript	.	.	ENSG00000167105	26579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(0.07)	.	TMM92_HUMAN	TMEM92	HGNC	.	.	UPI000013E65C	SNV	TMEM92,missense_variant,p.Gly8Asp,ENST00000300433,;TMEM92,missense_variant,p.Gly8Asp,ENST00000507382,;TMEM92,upstream_gene_variant,,ENST00000511882,;	133	17	25	SUCCESS
CHAD	1101	.	GRCh37	17	48545622	48545622	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	66	0	ENST00000258969.4:c.553T>C	p.Ser185Pro	p.S185P	ENST00000258969		185	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS11568.1	553	RADIA|VARSCANS	.	CAGGGAGCTCA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24369,PROSITE_profiles:PS51450	.	.	ENSP00000423812	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000508540	Transcript	.	.	ENSG00000136457	1909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.305)	.	tolerated(0.24)	.	CHAD_HUMAN	CHAD	HGNC	.	.	UPI0000001C59	SNV	CHAD,missense_variant,p.Ser185Pro,ENST00000258969,;CHAD,missense_variant,p.Ser185Pro,ENST00000508540,;ACSF2,intron_variant,,ENST00000504392,;ACSF2,intron_variant,,ENST00000541920,;ACSF2,intron_variant,,ENST00000502667,;ACSF2,intron_variant,,ENST00000427954,;ACSF2,intron_variant,,ENST00000300441,;CHAD,upstream_gene_variant,,ENST00000506187,;ACSF2,intron_variant,,ENST00000513544,;ACSF2,intron_variant,,ENST00000509806,;ACSF2,upstream_gene_variant,,ENST00000512119,;ACSF2,upstream_gene_variant,,ENST00000508734,;ACSF2,upstream_gene_variant,,ENST00000506085,;ACSF2,upstream_gene_variant,,ENST00000511147,;ACSF2,intron_variant,,ENST00000510410,;ACSF2,intron_variant,,ENST00000508245,;ACSF2,intron_variant,,ENST00000507769,;ACSF2,intron_variant,,ENST00000513101,;ACSF2,intron_variant,,ENST00000510262,;ACSF2,upstream_gene_variant,,ENST00000512537,;ACSF2,upstream_gene_variant,,ENST00000503387,;ACSF2,upstream_gene_variant,,ENST00000511288,;ACSF2,upstream_gene_variant,,ENST00000503295,;	706	66	39	SUCCESS
GGA3	23163	.	GRCh37	17	73257679	73257679	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs747837812	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	34	0	ENST00000537686.1:c.-11G>A		p.*4*	ENST00000537686				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGCCCGGC	NONE	byFrequency	.	.	.	.	ENSP00000245541	.	1/17	.	.	.	.	.	.	.	.	rs747837812	1/17	PASS	ENST00000245541	Transcript	.	.	ENSG00000125447	17079	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGA3_HUMAN	GGA3	HGNC	J3KSG3_HUMAN,B7Z456_HUMAN	.	UPI000012B3DF	SNV	GGA3,5_prime_UTR_variant,,ENST00000245541,;GGA3,5_prime_UTR_variant,,ENST00000351904,;GGA3,5_prime_UTR_variant,,ENST00000537686,;GGA3,intron_variant,,ENST00000578348,;GGA3,intron_variant,,ENST00000582486,;GGA3,intron_variant,,ENST00000582717,;MIF4GD,downstream_gene_variant,,ENST00000245551,;MRPS7,upstream_gene_variant,,ENST00000584678,;MRPS7,upstream_gene_variant,,ENST00000579002,;MIF4GD,downstream_gene_variant,,ENST00000580571,;MRPS7,upstream_gene_variant,,ENST00000245539,;GGA3,upstream_gene_variant,,ENST00000580799,;MRPS7,upstream_gene_variant,,ENST00000581993,;MIF4GD,downstream_gene_variant,,ENST00000325102,;GGA3,upstream_gene_variant,,ENST00000538886,;MIF4GD,downstream_gene_variant,,ENST00000579297,;MRPS7,upstream_gene_variant,,ENST00000579761,;MIF4GD,downstream_gene_variant,,ENST00000577542,;GGA3,intron_variant,,ENST00000579743,;GGA3,5_prime_UTR_variant,,ENST00000537584,;GGA3,5_prime_UTR_variant,,ENST00000584978,;GGA3,5_prime_UTR_variant,,ENST00000577435,;GGA3,non_coding_transcript_exon_variant,,ENST00000582200,;GGA3,upstream_gene_variant,,ENST00000584243,;GGA3,upstream_gene_variant,,ENST00000582376,;GGA3,upstream_gene_variant,,ENST00000582821,;MRPS7,upstream_gene_variant,,ENST00000577767,;MRPS7,upstream_gene_variant,,ENST00000583407,;	207	34	26	SUCCESS
TP53	7157	.	GRCh37	17	7577539	7577539	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121912651	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	26	99	0	ENST00000269305.4:c.742C>T	p.Arg248Trp	p.R248W	ENST00000269305	NM_001126112.2	248	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11118.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CCTCCGGTTCA	SITE|p.R248W|c.742C>T|46,SITE|p.R248W|c.742C>T|92,SITE|p.R248W|c.742C>T|537,SITE|p.R155W|c.463C>T|92,SITE|p.R248W|c.742C>T|31,SITE|p.R248W|c.742C>T|87,CODON|p.0?|c.1_1182del1182|6,CODON|p.R248Q|c.743_744GG>AA|5,CODON|p.R248R|c.744G>A|5,CODON|p.R248W|c.741_742CC>TT|15,CODON|p.R248Q|c.743G>A|113,CODON|p.R248Q|c.743G>A|633,CODON|p.R248L|c.743G>T|7,CODON|p.R248L|c.743G>T|12,CODON|p.R248Q|c.743G>A|64,CODON|p.R155L|c.464G>T|12,CODON|p.R155P|c.464G>C|5,CODON|p.R248P|c.743G>C|17,CODON|p.R248L|c.743G>T|12,CODON|p.R248Q|c.743G>A|42,CODON|p.R248P|c.743G>C|5,CODON|p.R248L|c.743G>T|74,CODON|p.R155Q|c.464G>A|114,CODON|p.R248P|c.743G>C|5,CODON|p.R248Q|c.743G>A|110,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4,BUFFER|p.G245G|c.735C>T|5,BUFFER|p.G245D|c.734G>A|10,BUFFER|p.G245V|c.734G>T|3,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245A|c.734G>C|8,BUFFER|p.G152D|c.455G>A|23,BUFFER|p.G152V|c.455G>T|15,BUFFER|p.G245V|c.734G>T|10,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245D|c.734G>A|119,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245D|c.734G>A|7,BUFFER|p.G245V|c.734G>T|69,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6,BUFFER|p.G244fs*3|c.730delG|4,BUFFER|p.G151D|c.452G>A|8,BUFFER|p.G244D|c.731G>A|42,BUFFER|p.G244D|c.731G>A|3,BUFFER|p.G244D|c.731G>A|8,BUFFER|p.G244A|c.731G>C|8,BUFFER|p.G244D|c.731G>A|8,BUFFER|p.G244V|c.731G>T|15	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	CM010465,CM900211,rs121912651,TP53_g.13379C>G,TP53_g.13379C>T,TP53_g.13379C>A,TP53_g.13379del,COSM11564,COSM45116,COSM10656,COSM44920,COSM120007,COSM1189381,COSM120005,COSM1189382,COSM3388183,COSM1640831,COSM120006,COSM1189383	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg248Trp,ENST00000413465,;TP53,missense_variant,p.Arg248Trp,ENST00000420246,;TP53,missense_variant,p.Arg248Trp,ENST00000269305,;TP53,missense_variant,p.Arg116Trp,ENST00000509690,;TP53,missense_variant,p.Arg248Trp,ENST00000359597,;TP53,missense_variant,p.Arg155Trp,ENST00000514944,;TP53,missense_variant,p.Arg248Trp,ENST00000445888,;TP53,missense_variant,p.Arg248Trp,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	932	100	39	SUCCESS
ZNF490	57474	.	GRCh37	19	12721447	12721447	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	32	0	ENST00000311437.6:c.48G>A	p.Glu16=	p.E16=	ENST00000311437	NM_020714.2	16	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS12272.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCTCGAG	NONE	.	.	.	.	.	ENSP00000311521	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000311437	Transcript	.	.	ENSG00000188033	23705	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN490_HUMAN	ZNF490	HGNC	.	.	UPI0000001C6F	SNV	ZNF490,synonymous_variant,p.%3D,ENST00000311437,;ZNF791,upstream_gene_variant,,ENST00000600752,;ZNF791,upstream_gene_variant,,ENST00000343325,;ZNF791,upstream_gene_variant,,ENST00000540038,;ZNF791,upstream_gene_variant,,ENST00000458122,;ZNF791,upstream_gene_variant,,ENST00000446165,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,upstream_gene_variant,,ENST00000498389,;ZNF490,synonymous_variant,p.%3D,ENST00000414906,;ZNF791,upstream_gene_variant,,ENST00000597691,;ZNF791,upstream_gene_variant,,ENST00000598225,;	171	32	22	SUCCESS
MAST3	23031	.	GRCh37	19	18252722	18252722	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	61	0	ENST00000262811.6:c.2149C>T	p.Gln717Ter	p.Q717*	ENST00000262811	NM_015016.1	717	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS46014.1	2149	RADIA|VARSCANS	.	CCGTCCAGCCC	NONE	.	.	hmmpanther:PTHR24356:SF140,hmmpanther:PTHR24356,Superfamily_domains:SSF56112	.	.	ENSP00000262811	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000262811	Transcript	.	.	ENSG00000099308	19036	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAST3_HUMAN	MAST3	HGNC	.	.	UPI00001D8275	SNV	MAST3,stop_gained,p.Gln717Ter,ENST00000262811,;AC007192.6,downstream_gene_variant,,ENST00000600364,;MAST3,upstream_gene_variant,,ENST00000609076,;MAST3,stop_gained,p.Gln50Ter,ENST00000609494,;	2149	61	41	SUCCESS
ZNF90	7643	.	GRCh37	19	20188854	20188854	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	19	0	ENST00000418063.2:c.-88G>T		p.*30*	ENST00000418063	NM_007138.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46028.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTGCTTCG	NONE	.	.	.	.	.	ENSP00000410466	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000418063	Transcript	.	.	ENSG00000213988	13165	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF90_HUMAN	ZNF90	HGNC	.	.	UPI00002376E6	SNV	ZNF90,5_prime_UTR_variant,,ENST00000418063,;ZNF90,non_coding_transcript_exon_variant,,ENST00000474284,;ZNF90,non_coding_transcript_exon_variant,,ENST00000492328,;ZNF90,5_prime_UTR_variant,,ENST00000473524,;ZNF90,5_prime_UTR_variant,,ENST00000469078,;AC006539.2,downstream_gene_variant,,ENST00000481419,;	25	19	15	SUCCESS
ZNF676	163223	.	GRCh37	19	22364341	22364341	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770321404	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	45	112	0	ENST00000397121.2:c.178G>C	p.Glu60Gln	p.E60Q	ENST00000397121	NM_001001411.2	60	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS42539.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCTATGC	NONE	byFrequency	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	rs770321404	3/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0.04)	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,missense_variant,p.Glu60Gln,ENST00000397121,;	496	112	93	SUCCESS
KMT2B	9757	.	GRCh37	19	36228046	36228046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	39	0	ENST00000222270.7:c.7432C>A	p.Gln2478Lys	p.Q2478K	ENST00000222270	NM_014727.1	2478	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS46055.1	7432	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCGAGCAGCTC	NONE	.	.	PROSITE_profiles:PS51543,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,Pfam_domain:PF05965,SMART_domains:SM00542,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	33/37	.	.	.	.	.	.	.	.	.	33/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.855)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Gln2478Lys,ENST00000222270,;KMT2B,missense_variant,p.Gln2478Lys,ENST00000420124,;IGFLR1,downstream_gene_variant,,ENST00000591748,;IGFLR1,downstream_gene_variant,,ENST00000588992,;IGFLR1,downstream_gene_variant,,ENST00000592889,;IGFLR1,downstream_gene_variant,,ENST00000586140,;IGFLR1,downstream_gene_variant,,ENST00000246532,;IGFLR1,downstream_gene_variant,,ENST00000592537,;IGFLR1,downstream_gene_variant,,ENST00000344990,;IGFLR1,downstream_gene_variant,,ENST00000591277,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;IGFLR1,downstream_gene_variant,,ENST00000587101,;KMT2B,non_coding_transcript_exon_variant,,ENST00000592092,;KMT2B,non_coding_transcript_exon_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000586308,;AD000671.6,downstream_gene_variant,,ENST00000589807,;IGFLR1,downstream_gene_variant,,ENST00000592693,;IGFLR1,downstream_gene_variant,,ENST00000588018,;IGFLR1,downstream_gene_variant,,ENST00000589175,;	7432	39	21	SUCCESS
FCGBP	8857	.	GRCh37	19	40360958	40360958	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	61	0	ENST00000221347.6:c.15450C>A	p.Arg5150=	p.R5150=	ENST00000221347	NM_003890.2	5150	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12546.1	15450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGCGGGT	NONE	.	.	Gene3D:2.10.25.10,Pfam_domain:PF01826,Superfamily_domains:SSF57567	.	.	ENSP00000221347	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;	15458	61	35	SUCCESS
FCGBP	8857	.	GRCh37	19	40360959	40360959	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371263426	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	60	0	ENST00000221347.6:c.15449G>A	p.Arg5150His	p.R5150H	ENST00000221347	NM_003890.2	5150	cGc/cAc	0	A:0.0005	.	.	.	.	T	R/H	protein_coding	YES	CCDS12546.1	15449	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGCGGGTG	NONE	byFrequency|byCluster	.	Gene3D:2.10.25.10,Pfam_domain:PF01826,Superfamily_domains:SSF57567	.	A:0	ENSP00000221347	.	33/36	.	.	.	.	.	.	.	.	rs371263426	33/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.108)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Arg5150His,ENST00000221347,;	15457	60	35	SUCCESS
KLK12	43849	.	GRCh37	19	51535232	51535232	+	synonymous_variant	Silent	SNP	G	G	A	rs371203521	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	13	0	ENST00000319590.4:c.357C>T	p.Arg119=	p.R119=	ENST00000319590	NM_145894.1	119	cgC/cgT	0	A:0	.	.	.	.	A	R	protein_coding	YES	CCDS12820.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACGCGGAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF21,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	A:0.0001	ENSP00000250351	.	4/7	.	.	.	.	.	.	.	.	rs371203521	4/7	PASS	ENST00000250351	Transcript	.	.	ENSG00000186474	6360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLK12_HUMAN	KLK12	HGNC	.	.	UPI000002ACDD	SNV	KLK12,synonymous_variant,p.%3D,ENST00000250351,;KLK12,synonymous_variant,p.%3D,ENST00000319590,;KLK12,synonymous_variant,p.%3D,ENST00000525263,;KLK12,intron_variant,,ENST00000250352,;KLK12,intron_variant,,ENST00000529888,;KLK11,upstream_gene_variant,,ENST00000594768,;KLK11,upstream_gene_variant,,ENST00000319720,;KLK11,upstream_gene_variant,,ENST00000391804,;CTC-518B2.9,intron_variant,,ENST00000594910,;KLK11,upstream_gene_variant,,ENST00000594458,;KLK12,synonymous_variant,p.%3D,ENST00000531374,;KLK12,intron_variant,,ENST00000530943,;KLK12,intron_variant,,ENST00000526824,;KLK11,upstream_gene_variant,,ENST00000319756,;	474	13	25	SUCCESS
AMY2A	279	.	GRCh37	1	104160105	104160105	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs550718562	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	507	184	750	1	ENST00000414303.2:c.43G>A	p.Ala15Thr	p.A15T	ENST00000414303	NM_000699.2	15	Gct/Act	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS783.1	43	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCTCAG	NONE	byFrequency|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM	A:0	.	ENSP00000397582	A:0	1/10	.	.	.	.	.	.	.	.	rs550718562	1/10	PASS	ENST00000414303	Transcript	.	A:0.0004	ENSG00000243480	477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	A:0.002	deleterious(0.05)	.	AMYP_HUMAN	AMY2A	HGNC	.	.	UPI0000000C80	SNV	AMY2A,missense_variant,p.Ala14Thr,ENST00000423678,;AMY2A,missense_variant,p.Ala15Thr,ENST00000414303,;AMY2A,upstream_gene_variant,,ENST00000497748,;	107	751	691	SUCCESS
FBXO2	26232	.	GRCh37	1	11710623	11710623	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	14	0	ENST00000354287.4:c.291G>A	p.Leu97=	p.L97=	ENST00000354287	NM_012168.5	97	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS130.1	291	MUTECT|MUSE	.	GGCACCAGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF8,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	.	.	ENSP00000346240	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000354287	Transcript	.	.	ENSG00000116661	13581	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX2_HUMAN	FBXO2	HGNC	.	.	UPI00000711D1	SNV	FBXO2,synonymous_variant,p.%3D,ENST00000465901,;FBXO2,synonymous_variant,p.%3D,ENST00000354287,;FBXO44,upstream_gene_variant,,ENST00000376762,;FBXO44,upstream_gene_variant,,ENST00000425796,;FBXO44,upstream_gene_variant,,ENST00000376768,;FBXO44,upstream_gene_variant,,ENST00000251547,;FBXO44,upstream_gene_variant,,ENST00000376760,;FBXO44,upstream_gene_variant,,ENST00000376770,;FBXO44,upstream_gene_variant,,ENST00000251546,;FBXO2,downstream_gene_variant,,ENST00000475961,;FBXO2,non_coding_transcript_exon_variant,,ENST00000471501,;FBXO2,non_coding_transcript_exon_variant,,ENST00000466919,;	633	14	17	SUCCESS
ITGA10	8515	.	GRCh37	1	145532146	145532146	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs782338989	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	44	0	ENST00000369304.3:c.790C>T	p.Arg264Ter	p.R264*	ENST00000369304	NM_003637.3	264	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS918.1	790	RADIA|MUSE	.	GGGGCCGACCC	NONE	byFrequency	.	PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000358310	.	8/30	.	.	.	.	.	.	.	.	rs782338989	8/30	PASS	ENST00000369304	Transcript	.	.	ENSG00000143127	6135	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITA10_HUMAN	ITGA10	HGNC	.	.	UPI000013D8D1	SNV	ITGA10,stop_gained,p.Arg133Ter,ENST00000538811,;ITGA10,stop_gained,p.Arg121Ter,ENST00000539363,;ITGA10,stop_gained,p.Arg264Ter,ENST00000369304,;ITGA10,non_coding_transcript_exon_variant,,ENST00000481236,;ITGA10,downstream_gene_variant,,ENST00000468261,;	965	44	46	SUCCESS
RNASEL	6041	.	GRCh37	1	182551358	182551360	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	134	15	112	0	ENST00000367559.3:c.1600_1602del	p.Lys534del	p.K534del	ENST00000367559	NM_021133.3	534	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS1347.1	1600-1602	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTCCCTTCTTTA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,hmmpanther:PTHR24141,PROSITE_profiles:PS50011	.	.	ENSP00000356530	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000367559	Transcript	.	.	ENSG00000135828	10050	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN5A_HUMAN	RNASEL	HGNC	.	.	UPI000005339F	deletion	RNASEL,inframe_deletion,p.Lys534del,ENST00000444138,;RNASEL,inframe_deletion,p.Lys534del,ENST00000539397,;RNASEL,inframe_deletion,p.Lys534del,ENST00000367559,;	1854-1856	112	149	SUCCESS
CFH	3075	.	GRCh37	1	196716375	196716375	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913059	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	881	38	723	0	ENST00000367429.4:c.3628C>T	p.Arg1210Cys	p.R1210C	ENST00000367429	NM_000186.3	1210	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1385.1	3628	MUTECT|MUSE	pathogenic,risk_factor	CATCACGTTCT	NONE	byCluster	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356399	.	22/22	.	.	.	.	.	.	.	.	CM010323,rs121913059	22/22	PASS	ENST00000367429	Transcript	.	.	ENSG00000000971	4883	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	25814826	benign(0.273)	.	tolerated(0.05)	.	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	SNV	CFH,missense_variant,p.Arg1210Cys,ENST00000367429,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	3868	723	919	SUCCESS
NBPF3	84224	.	GRCh37	1	21808194	21808194	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	40	367	0	ENST00000318249.5:c.1538G>C	p.Cys513Ser	p.C513S	ENST00000318249	NM_032264.4	513	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS216.1	1538	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGCCAGC	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF15,hmmpanther:PTHR14199,Pfam_domain:PF06758	.	.	ENSP00000316782	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000318249	Transcript	.	.	ENSG00000142794	25076	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.227)	.	tolerated(0.36)	.	NBPF3_HUMAN	NBPF3	HGNC	.	.	UPI0000037D6C	SNV	NBPF3,missense_variant,p.Cys457Ser,ENST00000434838,;NBPF3,missense_variant,p.Cys513Ser,ENST00000318249,;NBPF3,missense_variant,p.Cys457Ser,ENST00000318220,;NBPF3,missense_variant,p.Cys501Ser,ENST00000342104,;NBPF3,missense_variant,p.Cys443Ser,ENST00000454000,;NBPF3,non_coding_transcript_exon_variant,,ENST00000469876,;NBPF3,downstream_gene_variant,,ENST00000477050,;	1888	367	214	SUCCESS
TP53BP2	7159	.	GRCh37	1	224002032	224002032	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1187041576	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	25	0	ENST00000343537.7:c.199C>T	p.Arg67Ter	p.R67*	ENST00000343537	NM_001031685.2	67	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS44319.1	199	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGCTCAT	NONE	.	.	hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131,Superfamily_domains:SSF54236	.	.	ENSP00000341957	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,stop_gained,p.Arg67Ter,ENST00000343537,;TP53BP2,5_prime_UTR_variant,,ENST00000391878,;TP53BP2,upstream_gene_variant,,ENST00000494100,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000473135,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000472180,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000496282,;TP53BP2,synonymous_variant,p.%3D,ENST00000465119,;	491	25	48	SUCCESS
OR2T2	401992	.	GRCh37	1	248616651	248616651	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766007158	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	82	201	0	ENST00000342927.3:c.553G>A	p.Val185Met	p.V185M	ENST00000342927	NM_001004136.1	185	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS31116.1	553	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGTGCTG	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	rs766007158	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.16)	.	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,missense_variant,p.Val185Met,ENST00000342927,;	575	201	259	SUCCESS
SERINC2	347735	.	GRCh37	1	31907019	31907019	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	24	45	0	ENST00000373709.3:c.1341C>A	p.Leu447=	p.L447=	ENST00000373709	NM_178865.4	447	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55583.1	1368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCCTCCT	NONE	.	.	hmmpanther:PTHR10383:SF22,hmmpanther:PTHR10383,Pfam_domain:PF03348	.	.	ENSP00000362814	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000373710	Transcript	.	.	ENSG00000168528	23231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SERC2_HUMAN	SERINC2	HGNC	.	.	UPI000059CF90	SNV	SERINC2,synonymous_variant,p.%3D,ENST00000536384,;SERINC2,synonymous_variant,p.%3D,ENST00000373710,;SERINC2,synonymous_variant,p.%3D,ENST00000536859,;SERINC2,synonymous_variant,p.%3D,ENST00000373709,;AC114494.1,upstream_gene_variant,,ENST00000596131,;SERINC2,non_coding_transcript_exon_variant,,ENST00000491976,;	1641	45	27	SUCCESS
ELTD1	0	.	GRCh37	1	79403615	79403615	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	92	265	0	ENST00000370742.3:c.637T>A	p.Leu213Ile	p.L213I	ENST00000370742	NM_022159.3	213	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS41352.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAACTTGT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF12003	.	.	ENSP00000359778	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.16)	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Leu213Ile,ENST00000370742,;	701	265	308	SUCCESS
OTOR	56914	.	GRCh37	20	16729006	16729006	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs528759976	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	114	0	ENST00000246081.2:c.-41C>T		p.*14*	ENST00000246081	NM_020157.3			0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS13124.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCGCTTC	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000246081	G:0	1/4	.	.	.	.	.	.	.	.	rs528759976	1/4	PASS	ENST00000246081	Transcript	.	G:0.0002	ENSG00000125879	8517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	OTOR_HUMAN	OTOR	HGNC	.	.	UPI0000047809	SNV	OTOR,5_prime_UTR_variant,,ENST00000246081,;OTOR,upstream_gene_variant,,ENST00000490148,;OTOR,upstream_gene_variant,,ENST00000486129,;	4	114	62	SUCCESS
ASXL1	171023	.	GRCh37	20	31023622	31023622	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757758145	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	50	0	ENST00000375687.4:c.3107A>G	p.Asn1036Ser	p.N1036S	ENST00000375687	NM_015338.5	1036	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS13201.1	3107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAATTGGA	NONE	byFrequency	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	13/13	.	.	.	.	.	.	.	.	rs757758145	13/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.36)	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,missense_variant,p.Asn1036Ser,ENST00000375687,;ASXL1,missense_variant,p.Asn1031Ser,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;	3531	50	38	SUCCESS
DIDO1	11083	.	GRCh37	20	61528282	61528282	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1210717795	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	77	0	ENST00000266070.4:c.1655C>T	p.Pro552Leu	p.P552L	ENST00000266070	NM_033081.2	552	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33506.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGGGCT	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Pro552Leu,ENST00000266070,;DIDO1,missense_variant,p.Pro552Leu,ENST00000395335,;DIDO1,missense_variant,p.Pro552Leu,ENST00000395340,;DIDO1,missense_variant,p.Pro552Leu,ENST00000395343,;	1981	77	66	SUCCESS
NCAM2	4685	.	GRCh37	21	22804446	22804446	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	52	185	1	ENST00000400546.1:c.1499A>C	p.Tyr500Ser	p.Y500S	ENST00000400546	NM_004540.3	500	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS42910.1	1499	RADIA|SOMATICSNIPER|VARSCANS	.	TCCCTATGGAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000383392	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.025)	.	tolerated(0.32)	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,missense_variant,p.Tyr500Ser,ENST00000400546,;NCAM2,missense_variant,p.Tyr358Ser,ENST00000284894,;	1748	187	159	SUCCESS
MYO18B	84700	.	GRCh37	22	26294307	26294307	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	68	0	ENST00000536101.1:c.4702A>G	p.Lys1568Glu	p.K1568E	ENST00000536101		1568	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS54507.1	4702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCAAGAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	29/44	.	.	.	.	.	.	.	.	.	29/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Lys1568Glu,ENST00000335473,;MYO18B,missense_variant,p.Lys1568Glu,ENST00000536101,;MYO18B,missense_variant,p.Lys1569Glu,ENST00000407587,;CTA-125H2.2,intron_variant,,ENST00000599080,;CTA-125H2.2,intron_variant,,ENST00000594542,;CTA-125H2.2,intron_variant,,ENST00000609275,;CTA-125H2.2,intron_variant,,ENST00000600211,;CTA-125H2.2,intron_variant,,ENST00000608115,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,intron_variant,,ENST00000453457,;CTA-125H2.2,intron_variant,,ENST00000594856,;CTA-125H2.2,intron_variant,,ENST00000600903,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,intron_variant,,ENST00000609570,;CTA-125H2.2,intron_variant,,ENST00000608507,;CTA-125H2.2,intron_variant,,ENST00000594585,;CTA-125H2.2,intron_variant,,ENST00000600269,;CTA-125H2.2,intron_variant,,ENST00000595102,;CTA-125H2.2,intron_variant,,ENST00000609823,;CTA-125H2.2,intron_variant,,ENST00000599792,;CTA-125H2.2,intron_variant,,ENST00000609157,;CTA-125H2.2,intron_variant,,ENST00000597284,;CTA-125H2.2,intron_variant,,ENST00000597548,;CTA-125H2.2,intron_variant,,ENST00000607895,;CTA-125H2.2,upstream_gene_variant,,ENST00000609809,;CTA-125H2.2,upstream_gene_variant,,ENST00000597614,;CTA-125H2.2,upstream_gene_variant,,ENST00000593715,;CTA-125H2.2,upstream_gene_variant,,ENST00000609820,;CTA-125H2.2,downstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000608921,;CTA-125H2.2,upstream_gene_variant,,ENST00000596813,;MYO18B,upstream_gene_variant,,ENST00000534908,;MYO18B,upstream_gene_variant,,ENST00000536204,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	4952	68	62	SUCCESS
AMER3	205147	.	GRCh37	2	131521437	131521437	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	54	0	ENST00000321420.4:c.1792G>A	p.Asp598Asn	p.D598N	ENST00000321420		598	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2164.1	1792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGATGCC	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.1)	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,missense_variant,p.Asp598Asn,ENST00000321420,;AMER3,missense_variant,p.Asp598Asn,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	1902	54	30	SUCCESS
CDCA7	83879	.	GRCh37	2	174224139	174224139	+	intron_variant	Intron	SNP	G	G	A	rs771816691	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	49	151	0	ENST00000347703.3:c.147+574G>A		p.*49*	ENST00000347703	NM_145810.2	102		0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2252.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACGAACTG	SITE|p.E102K|c.304G>A|4	.	.	hmmpanther:PTHR31169:SF2,hmmpanther:PTHR31169	.	.	ENSP00000306968	.	3/10	.	.	.	.	.	.	.	.	rs771816691,COSM208156	3/10	PASS	ENST00000306721	Transcript	.	.	ENSG00000144354	14628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.023)	.	tolerated(0.11)	0,1	CDCA7_HUMAN	CDCA7	HGNC	B4DM13_HUMAN	.	UPI0000456EA4	SNV	CDCA7,missense_variant,p.Glu58Lys,ENST00000410101,;CDCA7,missense_variant,p.Glu102Lys,ENST00000306721,;CDCA7,intron_variant,,ENST00000392567,;CDCA7,intron_variant,,ENST00000410019,;CDCA7,intron_variant,,ENST00000347703,;AC092573.2,upstream_gene_variant,,ENST00000437243,;CDCA7,3_prime_UTR_variant,,ENST00000435616,;CDCA7,intron_variant,,ENST00000468359,;CDCA7,intron_variant,,ENST00000467411,;CDCA7,intron_variant,,ENST00000496441,;	407	151	165	SUCCESS
KLHL30	377007	.	GRCh37	2	239056628	239056628	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs960583847	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	49	0	ENST00000409223.1:c.1304A>G	p.Asn435Ser	p.N435S	ENST00000409223		435	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46555.2	1304	RADIA|MUTECT|MUSE|VARSCANS	.	GTACAACGCCC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000386389	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000409223	Transcript	.	.	ENSG00000168427	24770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	tolerated(0.06)	.	KLH30_HUMAN	KLHL30	HGNC	J3KND5_HUMAN	.	UPI00001D7DA5	SNV	KLHL30,missense_variant,p.Asn417Ser,ENST00000305959,;KLHL30,missense_variant,p.Asn435Ser,ENST00000409223,;	1411	49	18	SUCCESS
DTNB	1838	.	GRCh37	2	25611083	25611083	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	29	1	ENST00000406818.3:c.1723G>A	p.Ala575Thr	p.A575T	ENST00000406818	NM_001256303.1	575	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46237.1	1723	SOMATICSNIPER|VARSCANS	.	GAAGGCCTCCT	NONE	.	.	hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204	.	.	ENSP00000384084	.	17/21	.	.	.	.	.	.	.	.	COSM1407125	17/21	PASS	ENST00000406818	Transcript	.	.	ENSG00000138101	3058	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.928)	.	deleterious(0)	1	DTNB_HUMAN	DTNB	HGNC	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN	.	UPI0000129949	SNV	DTNB,missense_variant,p.Ala511Thr,ENST00000496972,;DTNB,missense_variant,p.Ala538Thr,ENST00000407186,;DTNB,missense_variant,p.Ala575Thr,ENST00000406818,;DTNB,missense_variant,p.Ala538Thr,ENST00000405222,;DTNB,missense_variant,p.Ala575Thr,ENST00000404103,;DTNB,missense_variant,p.Ala575Thr,ENST00000407661,;DTNB,missense_variant,p.Ala575Thr,ENST00000288642,;DTNB,missense_variant,p.Ala545Thr,ENST00000407038,;DTNB,missense_variant,p.Ala364Thr,ENST00000545439,;DTNB,downstream_gene_variant,,ENST00000481841,;DTNB,upstream_gene_variant,,ENST00000497476,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,3_prime_UTR_variant,,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000489949,;DTNB,non_coding_transcript_exon_variant,,ENST00000498437,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,downstream_gene_variant,,ENST00000482145,;	1973	30	19	SUCCESS
TCF7L1	83439	.	GRCh37	2	85536399	85536400	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCA	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	33	0	ENST00000282111.3:c.1584_1586dup	p.Ala529dup	p.A529dup	ENST00000282111	NM_031283.2	529	-/GCA	0	.	.	.	.	.	GCA	-/A	protein_coding	YES	CCDS1971.1	1581-1582	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGCTGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25	.	.	ENSP00000282111	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000282111	Transcript	.	.	ENSG00000152284	11640	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TF7L1_HUMAN	TCF7L1	HGNC	Q53T87_HUMAN,C9JPE3_HUMAN	.	UPI0000136846	insertion	TCF7L1,inframe_insertion,p.Ala529dup,ENST00000282111,;TCF7L1,downstream_gene_variant,,ENST00000490744,;	1856-1857	33	25	SUCCESS
TGOLN2	10618	.	GRCh37	2	85552051	85552051	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750518362	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	86	0	ENST00000409232.3:c.1295G>A	p.Arg432His	p.R432H	ENST00000409232		432	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS56126.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACGTTGG	NONE	byFrequency	.	hmmpanther:PTHR23211	.	.	ENSP00000386443	.	3/4	.	.	.	.	.	.	.	.	rs750518362	3/4	PASS	ENST00000409232	Transcript	.	.	ENSG00000152291	15450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.01)	.	.	TGOLN2	HGNC	F8WBK2_HUMAN	.	UPI000020880A	SNV	TGOLN2,missense_variant,p.Arg374His,ENST00000398263,;TGOLN2,missense_variant,p.Arg432His,ENST00000409232,;TGOLN2,missense_variant,p.Arg276His,ENST00000282120,;TGOLN2,missense_variant,p.Arg432His,ENST00000444342,;TGOLN2,missense_variant,p.Arg432His,ENST00000409015,;TGOLN2,missense_variant,p.Arg432His,ENST00000377386,;	1357	86	85	SUCCESS
KIDINS220	57498	.	GRCh37	2	8871250	8871250	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	132	1	ENST00000256707.3:c.4916T>C	p.Ile1639Thr	p.I1639T	ENST00000256707	NM_020738.2	1639	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS42650.1	4916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATAATTGGA	NONE	.	.	hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5	.	.	ENSP00000256707	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000256707	Transcript	.	.	ENSG00000134313	29508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.72)	.	KDIS_HUMAN	KIDINS220	HGNC	F8WAY8_HUMAN	.	UPI0000208E08	SNV	KIDINS220,missense_variant,p.Ile1620Thr,ENST00000427284,;KIDINS220,missense_variant,p.Ile1540Thr,ENST00000418530,;KIDINS220,missense_variant,p.Ile1639Thr,ENST00000256707,;KIDINS220,missense_variant,p.Ile1620Thr,ENST00000473731,;KIDINS220,intron_variant,,ENST00000496383,;KIDINS220,downstream_gene_variant,,ENST00000489024,;KIDINS220,upstream_gene_variant,,ENST00000436566,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;KIDINS220,downstream_gene_variant,,ENST00000471685,;	5098	134	83	SUCCESS
POLQ	10721	.	GRCh37	3	121158902	121158903	+	frameshift_variant	Frame_Shift_Del	DEL	GG	GG	-	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	48	0	ENST00000264233.5:c.7325_7326del	p.Thr2442AsnfsTer6	p.T2442Nfs*6	ENST00000264233	NM_199420.3	2442	aCC/a	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS33833.1	7325-7326	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAAATGGTCTGA	NONE	.	.	Gene3D:1.10.150.20,Pfam_domain:PF00476,SMART_domains:SM00482,Superfamily_domains:SSF56672	.	.	ENSP00000264233	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	deletion	POLQ,frameshift_variant,p.Thr2442AsnfsTer6,ENST00000264233,;POLQ,downstream_gene_variant,,ENST00000474243,;	7454-7455	48	50	SUCCESS
SEMA5B	54437	.	GRCh37	3	122662337	122662337	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	37	0	ENST00000357599.3:c.374A>T	p.Asp125Val	p.D125V	ENST00000357599	NM_001256348.1	125	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS58848.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATCCCGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	.	ENSP00000389588	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,missense_variant,p.Asp125Val,ENST00000421053,;SEMA5B,missense_variant,p.Asp125Val,ENST00000357599,;SEMA5B,missense_variant,p.Asp125Val,ENST00000195173,;SEMA5B,missense_variant,p.Asp179Val,ENST00000451055,;SEMA5B,missense_variant,p.Asp125Val,ENST00000393583,;SEMA5B,non_coding_transcript_exon_variant,,ENST00000465147,;SEMA5B,missense_variant,p.Asp125Val,ENST00000475244,;	547	37	20	SUCCESS
ACAD11	84129	.	GRCh37	3	132349391	132349391	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780157347	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	116	0	ENST00000264990.6:c.853A>T	p.Met285Leu	p.M285L	ENST00000264990	NM_032169.4	285	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS3074.1	853	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATTGATG	NONE	.	.	Gene3D:3.90.1200.10,Superfamily_domains:SSF56112	.	.	ENSP00000264990	.	7/20	.	.	.	.	.	.	.	.	rs780157347	7/20	PASS	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.69)	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,missense_variant,p.Met285Leu,ENST00000481970,;ACAD11,missense_variant,p.Met285Leu,ENST00000264990,;ACAD11,missense_variant,p.Met285Leu,ENST00000355458,;ACAD11,5_prime_UTR_variant,,ENST00000545291,;ACAD11,non_coding_transcript_exon_variant,,ENST00000489991,;ACAD11,missense_variant,p.Met285Leu,ENST00000485198,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,upstream_gene_variant,,ENST00000487024,;	1825	116	100	SUCCESS
TOPBP1	11073	.	GRCh37	3	133339026	133339026	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	93	0	ENST00000260810.5:c.3344G>T	p.Gly1115Val	p.G1115V	ENST00000260810	NM_007027.3	1115	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46919.1	3344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTCCACTG	NONE	.	.	hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561	.	.	ENSP00000260810	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000260810	Transcript	.	.	ENSG00000163781	17008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0.01)	.	TOPB1_HUMAN	TOPBP1	HGNC	A0AV47_HUMAN	.	UPI000020A292	SNV	TOPBP1,missense_variant,p.Gly1115Val,ENST00000260810,;TOPBP1,non_coding_transcript_exon_variant,,ENST00000513818,;TOPBP1,upstream_gene_variant,,ENST00000505804,;	3476	93	60	SUCCESS
MFN1	55669	.	GRCh37	3	179103488	179103488	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	93	0	ENST00000471841.1:c.1794C>T	p.Gly598=	p.G598=	ENST00000471841	NM_033540.2	598	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3228.1	1794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCATCAT	NONE	.	.	Pfam_domain:PF04799,hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF2	.	.	ENSP00000420617	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000471841	Transcript	.	.	ENSG00000171109	18262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFN1_HUMAN	MFN1	HGNC	C9JXQ1_HUMAN,C9JQT7_HUMAN	.	UPI000013D495	SNV	MFN1,synonymous_variant,p.%3D,ENST00000474903,;MFN1,synonymous_variant,p.%3D,ENST00000280653,;MFN1,synonymous_variant,p.%3D,ENST00000471841,;MFN1,synonymous_variant,p.%3D,ENST00000263969,;MFN1,3_prime_UTR_variant,,ENST00000357390,;MFN1,non_coding_transcript_exon_variant,,ENST00000480636,;	1920	93	102	SUCCESS
EHHADH	1962	.	GRCh37	3	184911175	184911175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	146	0	ENST00000231887.3:c.1011C>A	p.Asn337Lys	p.N337K	ENST00000231887	NM_001166415.1	337	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS33901.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTGTTTGC	BUFFER|p.A336V|c.1007C>T|3	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF02737,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Asn241Lys,ENST00000456310,;EHHADH,missense_variant,p.Asn337Lys,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1087	146	92	SUCCESS
RTP1	132112	.	GRCh37	3	186917604	186917604	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372732386	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	27	0	ENST00000312295.4:c.538C>T	p.Arg180Cys	p.R180C	ENST00000312295	NM_153708.2	180	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS3287.2	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGCCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14402:SF1,hmmpanther:PTHR14402,Pfam_domain:PF13695	.	T:0.0001	ENSP00000311712	.	2/2	.	.	.	.	.	.	.	.	rs372732386,COSM3332715	2/2	PASS	ENST00000312295	Transcript	.	.	ENSG00000175077	28580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.832)	.	deleterious(0.03)	0,1	RTP1_HUMAN	RTP1	HGNC	.	.	UPI00004E18F3	SNV	RTP1,missense_variant,p.Arg180Cys,ENST00000312295,;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	568	27	29	SUCCESS
IL17RD	54756	.	GRCh37	3	57154328	57154328	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	70	0	ENST00000296318.7:c.140C>T	p.Ala47Val	p.A47V	ENST00000296318	NM_017563.3	47	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2880.2	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGCTGGC	NONE	.	.	hmmpanther:PTHR15583:SF8,hmmpanther:PTHR15583	.	.	ENSP00000296318	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000296318	Transcript	.	.	ENSG00000144730	17616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.66)	.	I17RD_HUMAN	IL17RD	HGNC	C9J6R0_HUMAN	.	UPI0000047CC3	SNV	IL17RD,missense_variant,p.Ala23Val,ENST00000427856,;IL17RD,missense_variant,p.Ala47Val,ENST00000296318,;IL17RD,5_prime_UTR_variant,,ENST00000463523,;IL17RD,5_prime_UTR_variant,,ENST00000320057,;IL17RD,5_prime_UTR_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000479825,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	229	70	77	SUCCESS
MTNR1A	4543	.	GRCh37	4	187455191	187455191	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	37	150	0	ENST00000307161.5:c.705G>A	p.Arg235=	p.R235=	ENST00000307161	NM_005958.3	235	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3848.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCCTGAA	SITE|p.R235R|c.705G>A|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00857	.	.	ENSP00000302811	.	2/2	.	.	.	.	.	.	.	.	COSM3131266	2/2	PASS	ENST00000307161	Transcript	.	.	ENSG00000168412	7463	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MTR1A_HUMAN	MTNR1A	HGNC	.	.	UPI0000050407	SNV	MTNR1A,synonymous_variant,p.%3D,ENST00000307161,;RP11-215A19.2,intron_variant,,ENST00000509111,;	907	150	146	SUCCESS
IBSP	3381	.	GRCh37	4	88732600	88732600	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768315657	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	44	173	0	ENST00000226284.5:c.492A>T	p.Glu164Asp	p.E164D	ENST00000226284	NM_004967.3	164	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3624.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAAAGCGA	BUFFER|p.E163K|c.487G>A|4	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10345:SF0,hmmpanther:PTHR10345,Pfam_domain:PF05432	.	.	ENSP00000226284	.	7/7	.	.	.	.	.	.	.	.	rs768315657	7/7	PASS	ENST00000226284	Transcript	.	.	ENSG00000029559	5341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.457)	.	tolerated(0.05)	.	SIAL_HUMAN	IBSP	HGNC	.	.	UPI000013C899	SNV	IBSP,missense_variant,p.Glu164Asp,ENST00000226284,;	559	173	127	SUCCESS
HRH2	3274	.	GRCh37	5	175111106	175111106	+	synonymous_variant	Silent	SNP	G	G	A	rs137993607	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	42	2	ENST00000231683.2:c.870G>A	p.Ala290=	p.A290=	ENST00000231683	NM_022304.2	290	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS47344.1	870	SOMATICSNIPER|VARSCANS	.	GCTGCGCTGAA	NONE	byCluster	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,Transmembrane_helices:TMhelix	.	A:0.0001	ENSP00000366506	.	2/3	.	.	.	.	.	.	.	.	rs137993607	2/3	PASS	ENST00000377291	Transcript	.	.	ENSG00000113749	5183	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HRH2_HUMAN	HRH2	HGNC	.	.	UPI00001B2326	SNV	HRH2,synonymous_variant,p.%3D,ENST00000377291,;HRH2,synonymous_variant,p.%3D,ENST00000231683,;	1521	44	46	SUCCESS
MED23	9439	.	GRCh37	6	131946047	131946047	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	49	0	ENST00000368068.3:c.242A>G	p.Asp81Gly	p.D81G	ENST00000368068	NM_004830.3	81	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5147.1	242	RADIA|VARSCANS	.	AGCAGTCATAA	NONE	.	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.122)	.	tolerated(0.29)	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,missense_variant,p.Asp81Gly,ENST00000368068,;MED23,missense_variant,p.Asp81Gly,ENST00000354577,;MED23,missense_variant,p.Asp81Gly,ENST00000403834,;MED23,missense_variant,p.Asp81Gly,ENST00000368060,;MED23,missense_variant,p.Asp81Gly,ENST00000540546,;MED23,missense_variant,p.Asp81Gly,ENST00000539158,;MED23,missense_variant,p.Asp81Gly,ENST00000368058,;MED23,missense_variant,p.Asp81Gly,ENST00000368053,;ENPP3,upstream_gene_variant,,ENST00000414305,;MED23,downstream_gene_variant,,ENST00000489888,;ENPP3,upstream_gene_variant,,ENST00000427707,;	422	49	36	SUCCESS
SYNE1	23345	.	GRCh37	6	152651593	152651593	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	61	0	ENST00000367255.5:c.14227A>C	p.Thr4743Pro	p.T4743P	ENST00000367255	NM_182961.3	4743	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS5236.2	14227	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTGCTGC	BUFFER|p.R4741C|c.14221C>T|3,BUFFER|p.R4670C|c.14008C>T|3,BUFFER|p.R4741C|c.14221C>T|3	.	.	SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	78/146	.	.	.	.	.	.	.	.	.	78/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.921)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Thr4672Pro,ENST00000448038,;SYNE1,missense_variant,p.Thr4743Pro,ENST00000367255,;SYNE1,missense_variant,p.Thr4672Pro,ENST00000423061,;SYNE1,missense_variant,p.Thr4490Pro,ENST00000341594,;SYNE1,missense_variant,p.Thr4743Pro,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;	14829	61	36	SUCCESS
HIST1H2AG	0	.	GRCh37	6	27101166	27101166	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	160	0	ENST00000359193.2:c.316G>T	p.Gly106Cys	p.G106C	ENST00000359193	NM_021064.4	106	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS4619.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGGCGGT	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000352119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359193	Transcript	.	.	ENSG00000196787	4737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	H2A1_HUMAN	HIST1H2AG	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AG,missense_variant,p.Gly106Cys,ENST00000359193,;HIST1H2BJ,upstream_gene_variant,,ENST00000541790,;HIST1H2BJ,upstream_gene_variant,,ENST00000339812,;HIST1H2BJ,upstream_gene_variant,,ENST00000607124,;HIST1H2BK,downstream_gene_variant,,ENST00000396891,;HIST1H2BJ,upstream_gene_variant,,ENST00000606923,;	335	160	101	SUCCESS
HMGCLL1	54511	.	GRCh37	6	55360266	55360266	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1259164359	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	49	178	0	ENST00000398661.2:c.836G>C	p.Cys279Ser	p.C279S	ENST00000398661	NM_019036.2	279	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS43475.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACAGTGA	NONE	.	.	PROSITE_profiles:PS50991,hmmpanther:PTHR10277:SF33,hmmpanther:PTHR10277,Pfam_domain:PF00682,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	.	.	ENSP00000381654	.	8/10	.	.	.	.	.	.	.	.	COSM240134	8/10	PASS	ENST00000398661	Transcript	.	.	ENSG00000146151	21359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0.01)	1	HMGC2_HUMAN	HMGCLL1	HGNC	.	.	UPI000023780E	SNV	HMGCLL1,missense_variant,p.Cys217Ser,ENST00000308161,;HMGCLL1,missense_variant,p.Cys279Ser,ENST00000398661,;HMGCLL1,missense_variant,p.Cys146Ser,ENST00000370850,;HMGCLL1,missense_variant,p.Cys249Ser,ENST00000274901,;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,;	968	178	133	SUCCESS
DSP	1832	.	GRCh37	6	7583427	7583427	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770077556	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	118	1	ENST00000379802.3:c.5932A>G	p.Met1978Val	p.M1978V	ENST00000379802	NM_004415.2	1978	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS4501.1	5932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAATGCAG	NONE	.	.	Superfamily_domains:SSF75399,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	24/24	.	.	.	.	.	.	.	.	rs770077556,COSM1621931	24/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	.	0,1	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Met1978Val,ENST00000379802,;DSP,missense_variant,p.Met1379Val,ENST00000418664,;	6273	119	104	SUCCESS
ZNF277	11179	.	GRCh37	7	111846811	111846811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	25	0	ENST00000361822.3:c.40C>A	p.Gln14Lys	p.Q14K	ENST00000361822	NM_021994.2	14	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5755.2	40	MUSE|VARSCANS	.	GAATGCAGGAA	BUFFER|p.D16N|c.46G>A|3	.	.	.	.	.	ENSP00000354501	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000361822	Transcript	.	.	ENSG00000198839	13070	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.51)	.	ZN277_HUMAN	ZNF277	HGNC	C9J3B6_HUMAN,A4D0S7_HUMAN	.	UPI00000437E2	SNV	ZNF277,missense_variant,p.Gln14Lys,ENST00000421043,;ZNF277,missense_variant,p.Gln14Lys,ENST00000425229,;ZNF277,missense_variant,p.Gln14Lys,ENST00000450657,;ZNF277,missense_variant,p.Gln14Lys,ENST00000361822,;DOCK4,upstream_gene_variant,,ENST00000428084,;DOCK4,upstream_gene_variant,,ENST00000437633,;DOCK4,upstream_gene_variant,,ENST00000476846,;ZNF277,missense_variant,p.Gln14Lys,ENST00000361946,;ZNF277,missense_variant,p.Gln14Lys,ENST00000457808,;	169	25	16	SUCCESS
TWISTNB	0	.	GRCh37	7	19738145	19738145	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	174	0	ENST00000222567.5:c.811T>C	p.Trp271Arg	p.W271R	ENST00000222567	NM_001002926.1	271	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS34606.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGATGC	NONE	.	.	hmmpanther:PTHR12709,hmmpanther:PTHR12709:SF5	.	.	ENSP00000222567	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000222567	Transcript	.	.	ENSG00000105849	18027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.36)	.	RPA43_HUMAN	TWISTNB	HGNC	.	.	UPI000006CEF4	SNV	TWISTNB,missense_variant,p.Trp271Arg,ENST00000222567,;TWISTNB,downstream_gene_variant,,ENST00000462263,;	882	174	131	SUCCESS
AUTS2	26053	.	GRCh37	7	70252291	70252291	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868207585	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	68	0	ENST00000342771.4:c.2405C>T	p.Ser802Leu	p.S802L	ENST00000342771	NM_015570.2	802	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS5539.1	2405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTCGTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14429:SF5,hmmpanther:PTHR14429,Pfam_domain:PF15336,Prints_domain:PR02044	.	.	ENSP00000344087	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,missense_variant,p.Ser82Leu,ENST00000418686,;AUTS2,missense_variant,p.Ser802Leu,ENST00000342771,;AUTS2,missense_variant,p.Ser778Leu,ENST00000406775,;AUTS2,intron_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000439256,;AUTS2,downstream_gene_variant,,ENST00000498384,;	2726	68	53	SUCCESS
CSMD3	114788	.	GRCh37	8	113421218	113421218	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	49	145	0	ENST00000297405.5:c.5439T>A	p.Asp1813Glu	p.D1813E	ENST00000297405	NM_198123.1	1813	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS6315.1	5439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACATCGTG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	33/71	.	.	.	.	.	.	.	.	.	33/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Asp1709Glu,ENST00000455883,;CSMD3,missense_variant,p.Asp1813Glu,ENST00000297405,;CSMD3,missense_variant,p.Asp1773Glu,ENST00000343508,;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000339701,;	5684	145	103	SUCCESS
PRKDC	5591	.	GRCh37	8	48856412	48856412	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	145	1	ENST00000314191.2:c.808+1G>T		p.X270_splice	ENST00000314191	NM_006904.6	270		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTACCTGAG	NONE	.	.	.	.	.	ENSP00000313420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	9/86	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,splice_donor_variant,,ENST00000338368,;PRKDC,splice_donor_variant,,ENST00000314191,;PRKDC,splice_donor_variant,,ENST00000518216,;PRKDC,splice_donor_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000535375,;	.	147	110	SUCCESS
CNTRL	11064	.	GRCh37	9	123931905	123931905	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	65	0	ENST00000238341.5:c.6087A>G	p.Glu2029=	p.E2029=	ENST00000238341	NM_007018.4	2029	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS35118.1	6087	RADIA|VARSCANS	.	TCAGAAAGGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	.	.	ENSP00000362962	.	39/44	.	.	.	.	.	.	.	.	.	39/44	PASS	ENST00000373855	Transcript	.	.	ENSG00000119397	1858	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,synonymous_variant,p.%3D,ENST00000373855,;CNTRL,synonymous_variant,p.%3D,ENST00000373850,;CNTRL,synonymous_variant,p.%3D,ENST00000238341,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373845,;	6347	65	34	SUCCESS
NXF3	56000	.	GRCh37	X	102335094	102335094	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	67	0	ENST00000395065.3:c.978G>T	p.Lys326Asn	p.K326N	ENST00000395065	NM_022052.1	326	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS14503.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTCTTGTG	NONE	.	.	hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12	.	.	ENSP00000378504	.	11/20	.	.	.	.	.	.	.	.	COSM3556091	11/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.214)	.	tolerated(0.11)	1	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Lys326Asn,ENST00000395065,;NXF3,missense_variant,p.Lys203Asn,ENST00000427570,;NXF3,missense_variant,p.Arg17Ile,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,non_coding_transcript_exon_variant,,ENST00000494300,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,downstream_gene_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000468528,;NXF3,upstream_gene_variant,,ENST00000470724,;	1080	67	72	SUCCESS
BCORL1	63035	.	GRCh37	X	129159156	129159156	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1348032239	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	119	1	ENST00000218147.7:c.3880C>T	p.His1294Tyr	p.H1294Y	ENST00000218147		1294	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS14616.1	3880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCACCTG	NONE	.	.	hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,missense_variant,p.His894Tyr,ENST00000456822,;BCORL1,missense_variant,p.His1294Tyr,ENST00000540052,;BCORL1,missense_variant,p.His1294Tyr,ENST00000303743,;BCORL1,missense_variant,p.His1294Tyr,ENST00000218147,;BCORL1,intron_variant,,ENST00000441294,;BCORL1,intron_variant,,ENST00000359304,;	3924	120	81	SUCCESS
SLC25A14	9016	.	GRCh37	X	129474149	129474149	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	40	0	ENST00000218197.5:c.-104C>T		p.*35*	ENST00000218197	NM_022810.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14623.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCTCGA	NONE	.	.	.	.	.	ENSP00000218197	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000218197	Transcript	.	.	ENSG00000102078	10984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UCP5_HUMAN	SLC25A14	HGNC	Q5JY88_HUMAN,B4DMK1_HUMAN,B4DJN2_HUMAN	.	UPI0000137A3B	SNV	SLC25A14,5_prime_UTR_variant,,ENST00000424447,;SLC25A14,5_prime_UTR_variant,,ENST00000545805,;SLC25A14,5_prime_UTR_variant,,ENST00000218197,;SLC25A14,intron_variant,,ENST00000543953,;SLC25A14,upstream_gene_variant,,ENST00000339231,;SLC25A14,upstream_gene_variant,,ENST00000361980,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000467496,;SLC25A14,intron_variant,,ENST00000464184,;SLC25A14,intron_variant,,ENST00000464342,;SLC25A14,intron_variant,,ENST00000495156,;	124	40	29	SUCCESS
ARX	170302	.	GRCh37	X	25033826	25033826	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	64	284	0	ENST00000379044.4:c.29G>C	p.Cys10Ser	p.C10S	ENST00000379044	NM_139058.2	10	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS14215.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCAGCCC	NONE	.	.	.	.	.	ENSP00000368332	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000379044	Transcript	.	.	ENSG00000004848	18060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	ARX_HUMAN	ARX	HGNC	.	.	UPI00001260CA	SNV	ARX,missense_variant,p.Cys10Ser,ENST00000379044,;	240	284	271	SUCCESS
AMER1	139285	.	GRCh37	X	63413037	63413037	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	65	170	0	ENST00000330258.3:c.130C>T	p.Pro44Ser	p.P44S	ENST00000330258	NM_152424.3	44	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS14377.2	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGCTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.28)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Pro44Ser,ENST00000374869,;AMER1,missense_variant,p.Pro44Ser,ENST00000403336,;AMER1,missense_variant,p.Pro44Ser,ENST00000330258,;	403	171	146	SUCCESS
ARMC3	219681	.	GRCh37	10	23297251	23297251	+	synonymous_variant	Silent	SNP	C	C	A	rs779826464	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	124	0	ENST00000298032.5:c.1876C>A	p.Arg626=	p.R626=	ENST00000298032	NM_173081.3	626	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS7142.1	1876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACGAAGT	NONE	.	.	hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315,Low_complexity_(Seg):seg	.	.	ENSP00000298032	.	15/19	.	.	.	.	.	.	.	.	rs779826464	15/19	PASS	ENST00000298032	Transcript	.	.	ENSG00000165309	30964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,synonymous_variant,p.%3D,ENST00000409983,;ARMC3,synonymous_variant,p.%3D,ENST00000409049,;ARMC3,synonymous_variant,p.%3D,ENST00000298032,;ARMC3,synonymous_variant,p.%3D,ENST00000376528,;ARMC3,non_coding_transcript_exon_variant,,ENST00000491803,;	1960	124	115	SUCCESS
MYO3A	53904	.	GRCh37	10	26462898	26462898	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	56	141	0	ENST00000265944.5:c.3705T>C	p.Ala1235=	p.A1235=	ENST00000265944	NM_017433.4	1235	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS7148.1	3705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTATGAT	NONE	.	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,synonymous_variant,p.%3D,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	3871	141	123	SUCCESS
AKR1C1	1645	.	GRCh37	10	5009199	5009199	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	117	284	0	ENST00000380872.4:c.333T>C	p.Val111=	p.V111=	ENST00000380872	NM_001353.5	111	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS7061.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTTGACCT	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000370254	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000380872	Transcript	.	.	ENSG00000187134	384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AK1C1_HUMAN	AKR1C1	HGNC	.	.	UPI0000125760	SNV	AKR1C1,synonymous_variant,p.%3D,ENST00000442997,;AKR1C1,synonymous_variant,p.%3D,ENST00000380859,;AKR1C1,synonymous_variant,p.%3D,ENST00000434459,;AKR1C1,synonymous_variant,p.%3D,ENST00000380872,;U8,upstream_gene_variant,,ENST00000459095,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000476100,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000477661,;	525	284	270	SUCCESS
WAPAL	0	.	GRCh37	10	88206050	88206050	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	95	224	0	ENST00000298767.5:c.3271G>A	p.Glu1091Lys	p.E1091K	ENST00000298767	NM_015045.2	1091	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7375.1	3271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCTGTAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100	.	.	ENSP00000298767	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.24)	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,missense_variant,p.Glu1091Lys,ENST00000298767,;WAPAL,missense_variant,p.Glu303Lys,ENST00000372075,;WAPAL,missense_variant,p.Glu303Lys,ENST00000263070,;WAPAL,upstream_gene_variant,,ENST00000484070,;	3744	224	163	SUCCESS
IDE	3416	.	GRCh37	10	94225544	94225544	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	47	232	0	ENST00000265986.6:c.2377A>G	p.Ile793Val	p.I793V	ENST00000265986	NM_004969.3	793	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7421.1	2377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATATCTCGA	NONE	.	.	Superfamily_domains:SSF63411,Pfam_domain:PF05193,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	.	.	ENSP00000265986	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.61)	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,missense_variant,p.Ile238Val,ENST00000371581,;IDE,missense_variant,p.Ile793Val,ENST00000265986,;IDE,non_coding_transcript_exon_variant,,ENST00000496903,;	2434	232	168	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120317715	120317715	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	37	177	0	ENST00000397843.2:c.1510G>C	p.Glu504Gln	p.E504Q	ENST00000397843	NM_015313.2	504	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS41727.1	1510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGAGCGA	NONE	.	.	Superfamily_domains:SSF48097,Pfam_domain:PF09128,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000380942	.	18/41	.	.	.	.	.	.	.	.	.	18/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,missense_variant,p.Glu401Gln,ENST00000532993,;ARHGEF12,missense_variant,p.Glu504Gln,ENST00000397843,;ARHGEF12,missense_variant,p.Glu485Gln,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000525960,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,;	1676	177	125	SUCCESS
SAA2	6289	.	GRCh37	11	18267513	18267513	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	34	254	0	ENST00000256733.4:c.174del	p.Asn59ThrfsTer17	p.N59Tfs*17	ENST00000256733	NM_030754.4	58	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS7833.1	174	INDELOCATOR|VARSCANI	.	ATAGTTCCCCCG	NONE	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197,Prints_domain:PR00306	.	.	ENSP00000436126	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000526900	Transcript	.	.	ENSG00000134339	10514	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAA2_HUMAN	SAA2	HGNC	.	.	UPI000016A553	deletion	SAA2,frameshift_variant,p.Asn59ThrfsTer17,ENST00000529528,;SAA2,frameshift_variant,p.Asn59ThrfsTer17,ENST00000526900,;SAA2,frameshift_variant,p.Asn59ThrfsTer17,ENST00000530400,;SAA2,frameshift_variant,p.Asn59ThrfsTer17,ENST00000414546,;SAA2,frameshift_variant,p.Asn59ThrfsTer17,ENST00000528349,;SAA2,frameshift_variant,p.Asn59ThrfsTer17,ENST00000256733,;RNA5SP333,downstream_gene_variant,,ENST00000363466,;SAA2-SAA4,non_coding_transcript_exon_variant,,ENST00000524555,;	358	254	248	SUCCESS
SAA1	6288	.	GRCh37	11	18290820	18290820	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs772901303	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	106	0	ENST00000356524.4:c.174del	p.Asn59ThrfsTer17	p.N59Tfs*17	ENST00000356524	NM_199161.3	57	cGg/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS7835.1	170	INDELOCATOR|VARSCANI	.	ATGCTCGGGGGA	NONE	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,Pfam_domain:PF00277,SMART_domains:SM00197,PIRSF_domain:PIRSF002472,Prints_domain:PR00306	.	.	ENSP00000384906	.	3/4	.	.	.	.	.	.	.	.	rs748089864,rs772901303	3/4	PASS	ENST00000405158	Transcript	.	.	ENSG00000173432	10513	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAA1_HUMAN	SAA1	HGNC	E9PQD6_HUMAN	.	UPI000013F119	deletion	SAA1,frameshift_variant,p.Asn59ThrfsTer17,ENST00000356524,;SAA1,frameshift_variant,p.Asn59ThrfsTer17,ENST00000405158,;SAA1,frameshift_variant,p.Asn59ThrfsTer17,ENST00000532858,;RNA5SP334,downstream_gene_variant,,ENST00000364825,;	354	106	113	SUCCESS
SLC39A13	91252	.	GRCh37	11	47436693	47436693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	118	0	ENST00000362021.4:c.1023G>T	p.Leu341Phe	p.L341F	ENST00000362021	NM_001128225.2	341	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44592.1	1023	RADIA|MUTECT|MUSE	.	CTCTTGGAAGA	NONE	.	.	hmmpanther:PTHR16950,Pfam_domain:PF02535	.	.	ENSP00000354689	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000362021	Transcript	.	.	ENSG00000165915	20859	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	S39AD_HUMAN	SLC39A13	HGNC	K4DIB5_HUMAN	.	UPI00004564C5	SNV	SLC39A13,missense_variant,p.Leu334Phe,ENST00000354884,;SLC39A13,missense_variant,p.Leu341Phe,ENST00000362021,;SLC39A13,3_prime_UTR_variant,,ENST00000524928,;SLC39A13,3_prime_UTR_variant,,ENST00000533076,;SLC39A13,downstream_gene_variant,,ENST00000526614,;SLC39A13,downstream_gene_variant,,ENST00000527091,;PSMC3,downstream_gene_variant,,ENST00000530912,;PSMC3,downstream_gene_variant,,ENST00000602866,;SLC39A13,downstream_gene_variant,,ENST00000531865,;SLC39A13,downstream_gene_variant,,ENST00000531974,;PSMC3,downstream_gene_variant,,ENST00000298852,;SLC39A13,downstream_gene_variant,,ENST00000531419,;SLC39A13,non_coding_transcript_exon_variant,,ENST00000527829,;SLC39A13,non_coding_transcript_exon_variant,,ENST00000524886,;SLC39A13,downstream_gene_variant,,ENST00000528979,;SLC39A13,downstream_gene_variant,,ENST00000529740,;	1065	118	112	SUCCESS
SLC39A13	91252	.	GRCh37	11	47436729	47436729	+	intron_variant	Intron	SNP	G	G	A	rs749525550	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	100	0	ENST00000362021.4:c.1040+19G>A		p.*347*	ENST00000362021	NM_001128225.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44592.1	.	RADIA|MUTECT|MUSE	.	TGGAGGAAGAG	NONE	byFrequency	.	.	.	.	ENSP00000354689	.	.	.	.	.	.	.	.	.	.	rs749525550	.	PASS	ENST00000362021	Transcript	.	.	ENSG00000165915	20859	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S39AD_HUMAN	SLC39A13	HGNC	K4DIB5_HUMAN	.	UPI00004564C5	SNV	SLC39A13,3_prime_UTR_variant,,ENST00000524928,;SLC39A13,intron_variant,,ENST00000533076,;SLC39A13,intron_variant,,ENST00000354884,;SLC39A13,intron_variant,,ENST00000362021,;SLC39A13,downstream_gene_variant,,ENST00000526614,;SLC39A13,downstream_gene_variant,,ENST00000527091,;PSMC3,downstream_gene_variant,,ENST00000530912,;PSMC3,downstream_gene_variant,,ENST00000602866,;SLC39A13,downstream_gene_variant,,ENST00000531865,;SLC39A13,downstream_gene_variant,,ENST00000531974,;PSMC3,downstream_gene_variant,,ENST00000298852,;SLC39A13,downstream_gene_variant,,ENST00000531419,;SLC39A13,non_coding_transcript_exon_variant,,ENST00000527829,;SLC39A13,intron_variant,,ENST00000524886,;SLC39A13,downstream_gene_variant,,ENST00000528979,;SLC39A13,downstream_gene_variant,,ENST00000529740,;	.	100	105	SUCCESS
MYO7A	4647	.	GRCh37	11	76905526	76905526	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs547006116	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	48	0	ENST00000409709.3:c.4280C>T	p.Thr1427Met	p.T1427M	ENST00000409709	NM_000260.3	1427	aCg/aTg	0	.	T:0.0008	.	T:0	.	T	T/M	protein_coding	YES	CCDS53683.1	4280	MUTECT|MUSE	.	GAAGACGCTGG	NONE	by1000G	.	PROSITE_profiles:PS50057,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031	T:0	.	ENSP00000386331	T:0	32/49	.	.	.	.	.	.	.	.	rs547006116,COSM2018779	32/49	PASS	ENST00000409709	Transcript	.	T:0.0002	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.91)	T:0	tolerated(0.06)	0,1	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Thr608Met,ENST00000458169,;MYO7A,missense_variant,p.Thr1416Met,ENST00000409619,;MYO7A,missense_variant,p.Thr1427Met,ENST00000409709,;MYO7A,missense_variant,p.Thr1427Met,ENST00000458637,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,downstream_gene_variant,,ENST00000467137,;	4552	48	27	SUCCESS
RECQL	5965	.	GRCh37	12	21643210	21643210	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	77	144	0	ENST00000421138.2:c.317G>C	p.Gly106Ala	p.G106A	ENST00000421138		106	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS31756.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCCAGCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,TIGRFAM_domain:TIGR00614,hmmpanther:PTHR13710:SF72,hmmpanther:PTHR13710,PROSITE_profiles:PS51192	.	.	ENSP00000416739	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000444129	Transcript	.	.	ENSG00000004700	9948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0.01)	.	RECQ1_HUMAN	RECQL	HGNC	F8WD97_HUMAN,F8WA66_HUMAN,F5H4P4_HUMAN,F5H3W0_HUMAN,F5H2L2_HUMAN,F5GYB7_HUMAN	.	UPI0000167E2F	SNV	RECQL,missense_variant,p.Gly106Ala,ENST00000396093,;RECQL,missense_variant,p.Gly106Ala,ENST00000421138,;RECQL,missense_variant,p.Gly106Ala,ENST00000444129,;RECQL,missense_variant,p.Gly106Ala,ENST00000314748,;RECQL,missense_variant,p.Gly106Ala,ENST00000542432,;RECQL,missense_variant,p.Gly106Ala,ENST00000536240,;RECQL,downstream_gene_variant,,ENST00000536964,;RECQL,downstream_gene_variant,,ENST00000539672,;	786	144	82	SUCCESS
PDZRN4	29951	.	GRCh37	12	41967431	41967431	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	81	0	ENST00000402685.2:c.2850G>T	p.Leu950=	p.L950=	ENST00000402685	NM_001164595.1	950	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS53777.1	2850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGGTTAG	NONE	.	.	hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545	.	.	ENSP00000384197	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,synonymous_variant,p.%3D,ENST00000298919,;PDZRN4,synonymous_variant,p.%3D,ENST00000539469,;PDZRN4,synonymous_variant,p.%3D,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	2858	81	52	SUCCESS
ACVRL1	94	.	GRCh37	12	52307458	52307458	+	synonymous_variant	Silent	SNP	C	C	T	rs762047618	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	44	0	ENST00000388922.4:c.429C>T	p.Val143=	p.V143=	ENST00000388922	NM_000020.2	143	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31804.1	429	RADIA|MUTECT|MUSE	.	CATGTCCGACG	NONE	.	.	hmmpanther:PTHR23255:SF59,hmmpanther:PTHR23255	.	.	ENSP00000373574	.	4/10	.	.	.	.	.	.	.	.	rs762047618	4/10	PASS	ENST00000388922	Transcript	.	.	ENSG00000139567	175	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACVL1_HUMAN	ACVRL1	HGNC	D9IPD9_HUMAN,B4DUF0_HUMAN	.	UPI000000D9F4	SNV	ACVRL1,synonymous_variant,p.%3D,ENST00000550683,;ACVRL1,synonymous_variant,p.%3D,ENST00000388922,;ACVRL1,intron_variant,,ENST00000419526,;ACVRL1,intron_variant,,ENST00000547400,;ACVRL1,downstream_gene_variant,,ENST00000551576,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,upstream_gene_variant,,ENST00000547632,;	712	44	20	SUCCESS
HOXC4	3221	.	GRCh37	12	54447739	54447739	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs377491433	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	90	0	ENST00000303406.4:c.33C>A	p.Asn11Lys	p.N11K	ENST00000303406	NM_014620.4	11	aaC/aaA	0	T:0.0002	.	.	.	.	A	N/K	protein_coding	YES	CCDS8873.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAACTACAT	NONE	byCluster	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF146	.	T:0	ENSP00000399808	.	1/2	.	.	.	.	.	.	.	.	rs377491433	1/2	PASS	ENST00000430889	Transcript	.	.	ENSG00000273266	5126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.23)	.	HXC4_HUMAN	HOXC4	Uniprot_gn	.	.	UPI000013E89C	SNV	HOXC4,missense_variant,p.Asn11Lys,ENST00000430889,;HOXC4,missense_variant,p.Asn11Lys,ENST00000609810,;HOXC4,missense_variant,p.Asn11Lys,ENST00000303406,;RP11-834C11.3,upstream_gene_variant,,ENST00000515617,;HOXC4,downstream_gene_variant,,ENST00000507650,;	79	90	79	SUCCESS
OR10P1	121130	.	GRCh37	12	56030750	56030750	+	synonymous_variant	Silent	SNP	C	C	A	rs765405294	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	144	0	ENST00000309675.2:c.75C>A	p.Gly25=	p.G25=	ENST00000309675	NM_206899.1	25	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31828.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCCCT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF194	.	.	ENSP00000308082	.	1/1	.	.	.	.	.	.	.	.	rs765405294	1/1	PASS	ENST00000309675	Transcript	.	.	ENSG00000175398	15378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10P1_HUMAN	OR10P1	HGNC	.	.	UPI0000061E9C	SNV	OR10P1,synonymous_variant,p.%3D,ENST00000309675,;RP11-644F5.16,downstream_gene_variant,,ENST00000556606,;	107	145	88	SUCCESS
WIF1	11197	.	GRCh37	12	65448938	65448938	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	20	118	0	ENST00000286574.4:c.978C>G	p.Cys326Trp	p.C326W	ENST00000286574	NM_007191.4	326	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS8971.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGGCATTT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF12661,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000286574	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000286574	Transcript	.	.	ENSG00000156076	18081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	WIF1_HUMAN	WIF1	HGNC	F5H8A3_HUMAN,B4DX53_HUMAN	.	UPI0000038BEE	SNV	WIF1,missense_variant,p.Cys326Trp,ENST00000286574,;WIF1,missense_variant,p.Cys75Trp,ENST00000543094,;	1353	118	82	SUCCESS
FREM2	341640	.	GRCh37	13	39357273	39357273	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	107	159	0	ENST00000280481.7:c.5708C>T	p.Pro1903Leu	p.P1903L	ENST00000280481	NM_207361.4	1903	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS31960.1	5708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCCATCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000280481	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.74)	.	deleterious(0)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Pro1903Leu,ENST00000280481,;RNU6-56P,downstream_gene_variant,,ENST00000516986,;	5924	159	161	SUCCESS
IGHV3-30	28439	.	GRCh37	14	106791051	106791051	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs764978699	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	28	394	0	ENST00000390613.2:c.305T>G	p.Met102Arg	p.M102R	ENST00000390613		102	aTg/aGg	0	.	.	.	.	.	C	M/R	IG_V_gene	YES	.	305	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCATTTGC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375022	.	2/2	.	.	.	.	.	.	.	.	rs764978699	2/2	PASS	ENST00000390613	Transcript	.	.	ENSG00000211953	5591	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.856)	.	deleterious_low_confidence(0)	.	.	IGHV3-30	HGNC	.	.	UPI000011AAD3	SNV	IGHV3-30,missense_variant,p.Met102Arg,ENST00000390613,;IGHV3-29,upstream_gene_variant,,ENST00000520707,;	385	394	203	SUCCESS
CLEC14A	161198	.	GRCh37	14	38725365	38725365	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	116	0	ENST00000342213.2:c.-138G>T		p.*46*	ENST00000342213	NM_175060.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9667.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCTCGCT	NONE	.	.	.	.	.	ENSP00000353013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342213	Transcript	.	.	ENSG00000176435	19832	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC14_HUMAN	CLEC14A	HGNC	.	.	UPI000000CBD4	SNV	CLEC14A,5_prime_UTR_variant,,ENST00000342213,;	210	116	81	SUCCESS
SYNE2	23224	.	GRCh37	14	64518635	64518635	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755099726	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	110	247	0	ENST00000344113.4:c.8004G>T	p.Leu2668Phe	p.L2668F	ENST00000344113	NM_015180.4	2668	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS9761.2	8004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGACCAC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	48/116	.	.	.	.	.	.	.	.	rs755099726	48/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Leu2701Phe,ENST00000554584,;SYNE2,missense_variant,p.Leu2668Phe,ENST00000358025,;SYNE2,missense_variant,p.Leu2668Phe,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000557005,;	8234	247	219	SUCCESS
SYNE2	23224	.	GRCh37	14	64676089	64676089	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	54	99	0	ENST00000344113.4:c.18390-57T>A		p.*6130*	ENST00000344113	NM_015180.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9761.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTGCAAA	NONE	.	.	.	.	.	ENSP00000350719	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODIFIER	101/115	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,5_prime_UTR_variant,,ENST00000554805,;SYNE2,intron_variant,,ENST00000554584,;SYNE2,intron_variant,,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;SYNE2,intron_variant,,ENST00000344113,;ESR2,intron_variant,,ENST00000542956,;SYNE2,intron_variant,,ENST00000358025,;SYNE2,intron_variant,,ENST00000555022,;SYNE2,intron_variant,,ENST00000357395,;SYNE2,intron_variant,,ENST00000556906,;SYNE2,intron_variant,,ENST00000555002,;SYNE2,upstream_gene_variant,,ENST00000458046,;SYNE2,intron_variant,,ENST00000553801,;SYNE2,downstream_gene_variant,,ENST00000555241,;SYNE2,non_coding_transcript_exon_variant,,ENST00000553806,;SYNE2,intron_variant,,ENST00000555612,;SYNE2,intron_variant,,ENST00000553289,;SYNE2,upstream_gene_variant,,ENST00000554997,;SYNE2,upstream_gene_variant,,ENST00000557307,;SYNE2,upstream_gene_variant,,ENST00000557084,;	.	99	95	SUCCESS
TYRO3	7301	.	GRCh37	15	41865515	41865515	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	93	0	ENST00000263798.3:c.1995G>A	p.Glu665=	p.E665=	ENST00000263798	NM_006293.3	665	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS10080.1	1995	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGGACAT	BUFFER|p.V669L|c.2005G>T|3,BUFFER|p.V661L|c.1981G>T|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000263798	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000263798	Transcript	.	.	ENSG00000092445	12446	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TYRO3_HUMAN	TYRO3	HGNC	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN	.	UPI000013788A	SNV	TYRO3,synonymous_variant,p.%3D,ENST00000568343,;TYRO3,synonymous_variant,p.%3D,ENST00000263798,;TYRO3,synonymous_variant,p.%3D,ENST00000559066,;TYRO3,3_prime_UTR_variant,,ENST00000559851,;TYRO3,non_coding_transcript_exon_variant,,ENST00000560162,;TYRO3,upstream_gene_variant,,ENST00000568490,;TYRO3,downstream_gene_variant,,ENST00000559815,;	2219	93	53	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42126945	42126945	+	synonymous_variant	Silent	SNP	C	C	T	rs140704362	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	91	0	ENST00000382448.4:c.72C>T	p.Cys24=	p.C24=	ENST00000382448		24	tgC/tgT	0	T:0.0005	T:0.0008	.	T:0	.	T	C	protein_coding	YES	CCDS32202.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCGTGCC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF51197	T:0	T:0	ENSP00000371886	T:0	2/25	.	.	.	.	.	.	.	.	rs140704362	2/25	PASS	ENST00000382448	Transcript	.	T:0.0002	ENSG00000168970	34449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	JMJD7-PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000342159,;PLA2G4B,synonymous_variant,p.%3D,ENST00000542534,;JMJD7,synonymous_variant,p.%3D,ENST00000397299,;JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000382448,;JMJD7,5_prime_UTR_variant,,ENST00000431823,;JMJD7,intron_variant,,ENST00000408047,;PLA2G4B,upstream_gene_variant,,ENST00000458483,;PLA2G4B,upstream_gene_variant,,ENST00000452633,;JMJD7,non_coding_transcript_exon_variant,,ENST00000562035,;JMJD7,non_coding_transcript_exon_variant,,ENST00000405106,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000476036,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,upstream_gene_variant,,ENST00000461382,;JMJD7,upstream_gene_variant,,ENST00000478178,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000487292,;	81	91	48	SUCCESS
SHC4	399694	.	GRCh37	15	49148299	49148299	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	144	0	ENST00000332408.4:c.1093C>T	p.His365Tyr	p.H365Y	ENST00000332408	NM_203349.3	365	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS10130.1	1093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGGCTAT	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12	.	.	ENSP00000329668	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious(0.04)	.	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,missense_variant,p.His365Tyr,ENST00000332408,;SHC4,missense_variant,p.His79Tyr,ENST00000537958,;SHC4,missense_variant,p.His79Tyr,ENST00000558220,;SHC4,missense_variant,p.His122Tyr,ENST00000396535,;SHC4,missense_variant,p.His79Tyr,ENST00000557797,;	1522	144	107	SUCCESS
MCTP2	55784	.	GRCh37	15	94901825	94901825	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	77	150	0	ENST00000357742.4:c.1285G>C	p.Glu429Gln	p.E429Q	ENST00000357742	NM_018349.3	429	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS32338.1	1285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGAGGAA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000350377	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious(0.02)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Glu17Gln,ENST00000557742,;MCTP2,missense_variant,p.Glu17Gln,ENST00000331706,;MCTP2,missense_variant,p.Glu429Gln,ENST00000357742,;MCTP2,missense_variant,p.Glu429Gln,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000543482,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;	1285	150	145	SUCCESS
ITGAX	3687	.	GRCh37	16	31372494	31372494	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	56	110	0	ENST00000268296.4:c.972T>C	p.Asp324=	p.D324=	ENST00000268296	NM_000887.3	324	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS10711.1	972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATATTCA	NONE	.	.	Superfamily_domains:SSF53300,Superfamily_domains:SSF69318,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3nigC00,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220,PROSITE_profiles:PS50234	.	.	ENSP00000268296	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000268296	Transcript	.	.	ENSG00000140678	6152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAX_HUMAN	ITGAX	HGNC	B4DDX0_HUMAN	.	UPI00001C0366	SNV	ITGAX,synonymous_variant,p.%3D,ENST00000562522,;ITGAX,synonymous_variant,p.%3D,ENST00000268296,;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000564308,;ITGAX,downstream_gene_variant,,ENST00000567409,;RP11-120K18.3,downstream_gene_variant,,ENST00000561830,;	1093	110	85	SUCCESS
BCMO1	0	.	GRCh37	16	81303890	81303890	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs144501132	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	74	0	ENST00000258168.2:c.970A>G	p.Ile324Val	p.I324V	ENST00000258168	NM_017429.2	324	Att/Gtt	0	G:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS10934.1	970	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCATTGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10543:SF22,hmmpanther:PTHR10543,Pfam_domain:PF03055	.	G:0.0001	ENSP00000258168	.	7/11	.	.	.	.	.	.	.	.	rs144501132	7/11	PASS	ENST00000258168	Transcript	.	.	ENSG00000135697	13815	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.16)	.	BCDO1_HUMAN	BCMO1	HGNC	.	.	UPI0000049CF7	SNV	BCMO1,missense_variant,p.Ile255Val,ENST00000425577,;BCMO1,missense_variant,p.Ile324Val,ENST00000258168,;BCMO1,3_prime_UTR_variant,,ENST00000563804,;	1431	74	40	SUCCESS
CHTF18	63922	.	GRCh37	16	845334	845334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	39	0	ENST00000262315.9:c.2153C>A	p.Thr718Asn	p.T718N	ENST00000262315	NM_022092.2	718	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS45371.1	2153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACCTTCC	NONE	.	.	hmmpanther:PTHR23389:SF3,hmmpanther:PTHR23389	.	.	ENSP00000262315	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000262315	Transcript	.	.	ENSG00000127586	18435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.29)	.	CTF18_HUMAN	CHTF18	HGNC	.	.	UPI00000710D2	SNV	CHTF18,missense_variant,p.Thr746Asn,ENST00000455171,;CHTF18,missense_variant,p.Thr718Asn,ENST00000262315,;CHTF18,missense_variant,p.Thr927Asn,ENST00000317063,;CHTF18,downstream_gene_variant,,ENST00000426047,;GNG13,downstream_gene_variant,,ENST00000248150,;CHTF18,non_coding_transcript_exon_variant,,ENST00000461268,;CHTF18,non_coding_transcript_exon_variant,,ENST00000493715,;CHTF18,downstream_gene_variant,,ENST00000491530,;CHTF18,upstream_gene_variant,,ENST00000564940,;CHTF18,non_coding_transcript_exon_variant,,ENST00000464728,;CHTF18,non_coding_transcript_exon_variant,,ENST00000471202,;CHTF18,upstream_gene_variant,,ENST00000498439,;CHTF18,downstream_gene_variant,,ENST00000565787,;CHTF18,downstream_gene_variant,,ENST00000440239,;CHTF18,downstream_gene_variant,,ENST00000479976,;CHTF18,downstream_gene_variant,,ENST00000484349,;CHTF18,downstream_gene_variant,,ENST00000569270,;CHTF18,downstream_gene_variant,,ENST00000567620,;	2216	39	43	SUCCESS
DNAH9	1770	.	GRCh37	17	11775087	11775087	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	60	123	0	ENST00000262442.4:c.10226A>T	p.Tyr3409Phe	p.Y3409F	ENST00000262442	NM_001372.3	3409	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS11160.1	10226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTACCTGA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000262442	.	52/69	.	.	.	.	.	.	.	.	.	52/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Tyr3409Phe,ENST00000454412,;DNAH9,missense_variant,p.Tyr3409Phe,ENST00000262442,;DNAH9,intron_variant,,ENST00000579703,;RP11-628O18.1,downstream_gene_variant,,ENST00000579621,;DNAH9,downstream_gene_variant,,ENST00000578834,;DNAH9,upstream_gene_variant,,ENST00000580255,;	10294	123	70	SUCCESS
SLFN12	55106	.	GRCh37	17	33749277	33749277	+	synonymous_variant	Silent	SNP	G	G	T	rs754675558	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	56	106	0	ENST00000304905.5:c.771C>A	p.Leu257=	p.L257=	ENST00000304905	NM_018042.3	257	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11295.1	771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGAGGTC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12155:SF2,hmmpanther:PTHR12155,Pfam_domain:PF04326	.	.	ENSP00000378063	.	4/6	.	.	.	.	.	.	.	.	rs754675558	4/6	PASS	ENST00000394562	Transcript	.	.	ENSG00000172123	25500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLN12_HUMAN	SLFN12	HGNC	C9JIA1_HUMAN,C9J4K7_HUMAN	.	UPI000013E9E5	SNV	SLFN12,synonymous_variant,p.%3D,ENST00000304905,;SLFN12,synonymous_variant,p.%3D,ENST00000452764,;SLFN12,synonymous_variant,p.%3D,ENST00000394562,;SLFN12,downstream_gene_variant,,ENST00000447040,;SLFN12,downstream_gene_variant,,ENST00000445092,;SLFN12,upstream_gene_variant,,ENST00000460530,;SLFN12,upstream_gene_variant,,ENST00000479326,;	1295	106	153	SUCCESS
NBR1	4077	.	GRCh37	17	41345518	41345518	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	30	148	0	ENST00000341165.6:c.1387C>T	p.His463Tyr	p.H463Y	ENST00000341165	NM_031862.2	463	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS45694.1	1387	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCACAAA	NONE	.	.	hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,missense_variant,p.His463Tyr,ENST00000422280,;NBR1,missense_variant,p.His463Tyr,ENST00000589872,;NBR1,missense_variant,p.His463Tyr,ENST00000389312,;NBR1,missense_variant,p.His442Tyr,ENST00000542611,;NBR1,missense_variant,p.His463Tyr,ENST00000341165,;NBR1,missense_variant,p.His463Tyr,ENST00000590996,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;	1846	148	191	SUCCESS
SPATA20	64847	.	GRCh37	17	48629417	48629417	+	synonymous_variant	Silent	SNP	G	G	A	rs746708709	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	68	187	0	ENST00000356488.4:c.1785G>A	p.Ala595=	p.A595=	ENST00000356488	NM_001258372.1	595	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11571.1	1833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGTGGCT	NONE	byFrequency	.	Superfamily_domains:SSF48208,PIRSF_domain:PIRSF006402,Gene3D:1.50.10.10,hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145	.	.	ENSP00000006658	.	14/17	.	.	.	.	.	.	.	.	rs746708709	14/17	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,synonymous_variant,p.%3D,ENST00000356488,;SPATA20,synonymous_variant,p.%3D,ENST00000006658,;SPATA20,synonymous_variant,p.%3D,ENST00000393244,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505793,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505495,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,downstream_gene_variant,,ENST00000512416,;SPATA20,downstream_gene_variant,,ENST00000510917,;SPATA20,downstream_gene_variant,,ENST00000508598,;SPATA20,downstream_gene_variant,,ENST00000502911,;SPATA20,downstream_gene_variant,,ENST00000505559,;SPATA20,downstream_gene_variant,,ENST00000504271,;SPATA20,downstream_gene_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000511347,;SPATA20,downstream_gene_variant,,ENST00000504265,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000508528,;SPATA20,downstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000511605,;SPATA20,downstream_gene_variant,,ENST00000505456,;SPATA20,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000505085,;SPATA20,downstream_gene_variant,,ENST00000505336,;SPATA20,downstream_gene_variant,,ENST00000511845,;SPATA20,downstream_gene_variant,,ENST00000512181,;	1953	187	213	SUCCESS
GEMIN4	50628	.	GRCh37	17	648872	648872	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	73	0	ENST00000319004.5:c.2411A>G	p.Gln804Arg	p.Q804R	ENST00000319004	NM_015721.2	804	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS45559.1	2411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTGGGAG	NONE	.	.	hmmpanther:PTHR15571,hmmpanther:PTHR15571:SF2	.	.	ENSP00000321706	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319004	Transcript	.	.	ENSG00000179409	15717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	GEMI4_HUMAN	GEMIN4	HGNC	I3L4M4_HUMAN,I3L2C7_HUMAN	.	UPI000020001F	SNV	GEMIN4,missense_variant,p.Gln793Arg,ENST00000576778,;GEMIN4,missense_variant,p.Gln804Arg,ENST00000319004,;GEMIN4,downstream_gene_variant,,ENST00000574958,;FAM57A,downstream_gene_variant,,ENST00000572018,;FAM57A,downstream_gene_variant,,ENST00000301324,;GEMIN4,downstream_gene_variant,,ENST00000576383,;GEMIN4,downstream_gene_variant,,ENST00000570364,;GEMIN4,downstream_gene_variant,,ENST00000437269,;GEMIN4,downstream_gene_variant,,ENST00000573482,;FAM57A,downstream_gene_variant,,ENST00000308278,;FAM57A,downstream_gene_variant,,ENST00000577008,;FAM57A,downstream_gene_variant,,ENST00000570892,;FAM57A,downstream_gene_variant,,ENST00000570699,;	2530	73	67	SUCCESS
TP53	7157	.	GRCh37	17	7577120	7577120	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934576	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	24	47	0	ENST00000269305.4:c.818G>A	p.Arg273His	p.R273H	ENST00000269305	NM_001126112.2	273	cGt/cAt	0	.	T:0,T:0	.	T:0,T:0	.	T	R/H	protein_coding	YES	CCDS11118.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AAACACGCACC	SITE|p.R273H|c.818G>A|116,SITE|p.R273H|c.818G>A|64,SITE|p.R273H|c.818G>A|588,SITE|p.R273H|c.818G>A|83,CODON|p.0?|c.1_1182del1182|6,CODON|p.R273L|c.818G>T|98,CODON|p.R273P|c.818G>C|4,CODON|p.R273L|c.818G>T|5,CODON|p.R273P|c.818G>C|29,CODON|p.R273L|c.818G>T|18,CODON|p.R273L|c.818G>T|12,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.A276D|c.827C>A|9,BUFFER|p.A276G|c.827C>G|4,BUFFER|p.A276D|c.827C>A|3,BUFFER|p.A276V|c.827C>T|7,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275C|c.825T>C|4,BUFFER|p.C275W|c.825T>G|8,BUFFER|p.C275*|c.825T>A|3,BUFFER|p.C275F|c.824G>T|10,BUFFER|p.C275S|c.824G>C|4,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275F|c.824G>T|43,BUFFER|p.C275F|c.824G>T|5,BUFFER|p.C275Y|c.824G>A|54,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275Y|c.824G>A|11,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273S|c.817C>A|4,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273S|c.817C>A|15,BUFFER|p.R273C|c.817C>T|59,BUFFER|p.V272E|c.815T>A|9,BUFFER|p.V272G|c.815T>G|7,BUFFER|p.V272A|c.815T>C|7,BUFFER|p.V272fs*73|c.814delG|3,BUFFER|p.V272L|c.814G>T|24,BUFFER|p.V272L|c.814G>T|4,BUFFER|p.V272M|c.814G>A|11,BUFFER|p.V272M|c.814G>A|84,BUFFER|p.V272M|c.814G>A|6,BUFFER|p.V272M|c.814G>A|22,BUFFER|p.V272L|c.814G>C|4,BUFFER|p.E271V|c.812A>T|8,BUFFER|p.E271G|c.812A>G|3,BUFFER|p.E271Q|c.811G>C|4,BUFFER|p.E271K|c.811G>A|35,BUFFER|p.E271*|c.811G>T|16,BUFFER|p.E271*|c.811G>T|3,BUFFER|p.E271K|c.811G>A|13,BUFFER|p.E271K|c.811G>A|4,BUFFER|p.E271K|c.811G>A|8,BUFFER|p.F270L|c.810T>G|4,BUFFER|p.F270L|c.810T>A|5,BUFFER|p.F270S|c.809T>C|3,BUFFER|p.F270Y|c.809T>A|5,BUFFER|p.F270C|c.809T>G|16,BUFFER|p.F270S|c.809T>C|3,BUFFER|p.F270S|c.809T>C|14,BUFFER|p.F270S|c.809T>C|6,BUFFER|p.F270L|c.808T>C|16,BUFFER|p.F270I|c.808T>A|3,BUFFER|p.F270V|c.808T>G|8,BUFFER|p.F270L|c.808T>C|3,BUFFER|p.F270I|c.808T>A|6,BUFFER|p.S269S|c.807C>T|3	byCluster|by1000G	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	T:0,T:0	.	ENSP00000269305	T:0.001,T:0.001	8/11	.	.	.	.	.	.	.	.	CM920677,CM010472,rs28934576,CM004342,TP53_g.13798G>C,TP53_g.13798del,TP53_g.13798G>A,TP53_g.13798G>T,COSM10660,COSM43896,COSM44440,COSM10779,COSM318169,COSM99729,COSM165077,COSM3356963,COSM3675521,COSM1640828,COSM1645335,COSM1646808	8/11	PASS	ENST00000269305	Transcript	.	T:0.0002	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660	possibly_damaging(0.631)	T:0,T:0	tolerated(0.13)	0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg273His,ENST00000420246,;TP53,missense_variant,p.Arg273His,ENST00000269305,;TP53,missense_variant,p.Arg141His,ENST00000509690,;TP53,missense_variant,p.Arg273His,ENST00000359597,;TP53,missense_variant,p.Arg273His,ENST00000445888,;TP53,missense_variant,p.Arg273His,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1008	47	29	SUCCESS
DDC8	0	.	GRCh37	17	76888033	76888033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	123	144	0	ENST00000322630.2:c.553G>T	p.Gly185Cys	p.G185C	ENST00000322630	NM_001243540.1	185	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS58603.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCAACT	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2	.	.	ENSP00000312767	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000322630	Transcript	.	.	ENSG00000178404	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	tolerated(0.13)	.	DDC8_HUMAN	DDC8	Uniprot_gn	.	.	UPI0000071A46	SNV	DDC8,missense_variant,p.Gly185Cys,ENST00000322630,;TIMP2,intron_variant,,ENST00000536189,;DDC8,intron_variant,,ENST00000586713,;TIMP2,intron_variant,,ENST00000262768,;DDC8,downstream_gene_variant,,ENST00000590267,;DDC8,downstream_gene_variant,,ENST00000587052,;	719	144	201	SUCCESS
CTC1	80169	.	GRCh37	17	8131829	8131829	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	82	0	ENST00000315684.8:c.3506T>C	p.Val1169Ala	p.V1169A	ENST00000315684	NM_025099.5	1169	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS42259.1	3506	RADIA|VARSCANS	.	ATGGGACGATC	NONE	.	.	hmmpanther:PTHR14865,Pfam_domain:PF15489	.	.	ENSP00000313759	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000315684	Transcript	.	.	ENSG00000178971	26169	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.78)	.	CTC1_HUMAN	CTC1	HGNC	.	.	UPI000041A9A9	SNV	CTC1,missense_variant,p.Val1169Ala,ENST00000315684,;CTC1,missense_variant,p.Val75Ala,ENST00000581729,;CTC1,downstream_gene_variant,,ENST00000580299,;RP11-849F2.8,upstream_gene_variant,,ENST00000602405,;LINC00324,upstream_gene_variant,,ENST00000315707,;CTC1,3_prime_UTR_variant,,ENST00000449476,;CTC1,downstream_gene_variant,,ENST00000578441,;CTC1,downstream_gene_variant,,ENST00000578537,;CTC1,downstream_gene_variant,,ENST00000584439,;CTC1,downstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000583254,;CTC1,downstream_gene_variant,,ENST00000578240,;	3514	82	34	SUCCESS
HRH4	59340	.	GRCh37	18	22057509	22057509	+	synonymous_variant	Silent	SNP	C	C	A	rs115905515	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	72	0	ENST00000256906.4:c.1156C>A	p.Arg386=	p.R386=	ENST00000256906	NM_021624.3	386	Cgg/Agg	0	T:0.0059	T:0.0083	.	T:0	.	A	R	protein_coding	YES	CCDS11887.1	1156	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCGGTCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24249:SF55,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	T:0	T:0	ENSP00000256906	T:0	3/3	.	.	.	.	.	.	.	.	rs115905515	3/3	PASS	ENST00000256906	Transcript	.	T:0.0022	ENSG00000134489	17383	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	HRH4_HUMAN	HRH4	HGNC	.	.	UPI0000039A92	SNV	HRH4,synonymous_variant,p.%3D,ENST00000256906,;HRH4,synonymous_variant,p.%3D,ENST00000426880,;	1256	72	70	SUCCESS
ZNF521	25925	.	GRCh37	18	22806650	22806650	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs533662951	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	97	226	1	ENST00000361524.3:c.1232A>G	p.Asn411Ser	p.N411S	ENST00000361524	NM_015461.2	411	aAc/aGc	0	.	C:0	.	C:0	.	C	N/S	protein_coding	YES	CCDS32806.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGTTGCAG	NONE	by1000G	.	SMART_domains:SM00355,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32	C:0	.	ENSP00000354794	C:0	4/8	.	.	.	.	.	.	.	.	rs533662951	4/8	PASS	ENST00000361524	Transcript	.	C:0.0002	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	C:0.001	tolerated(1)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Asn411Ser,ENST00000538137,;ZNF521,missense_variant,p.Asn191Ser,ENST00000584787,;ZNF521,missense_variant,p.Asn411Ser,ENST00000361524,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Asn411Ser,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	1381	227	175	SUCCESS
DSC2	1824	.	GRCh37	18	28650707	28650707	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	64	137	0	ENST00000280904.6:c.2235T>A	p.Pro745=	p.P745=	ENST00000280904	NM_024422.3	745	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11892.1	2235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAGGAGC	NONE	.	.	hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,Prints_domain:PR01820	.	.	ENSP00000280904	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000280904	Transcript	.	.	ENSG00000134755	3036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSC2_HUMAN	DSC2	HGNC	A9X9L1_HUMAN	.	UPI00001298F9	SNV	DSC2,synonymous_variant,p.%3D,ENST00000251081,;DSC2,synonymous_variant,p.%3D,ENST00000280904,;snoU13,upstream_gene_variant,,ENST00000459603,;	2679	137	101	SUCCESS
GAREM	0	.	GRCh37	18	29890226	29890226	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776502086	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	43	232	0	ENST00000269209.6:c.323G>T	p.Ser108Ile	p.S108I	ENST00000269209		108	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS56057.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACTGTTG	NONE	.	.	hmmpanther:PTHR14454:SF6,hmmpanther:PTHR14454,Pfam_domain:PF12736	.	.	ENSP00000269209	.	3/6	.	.	.	.	.	.	.	.	rs776502086,COSM1640954	3/6	PASS	ENST00000269209	Transcript	.	.	ENSG00000141441	26136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.905)	.	deleterious(0)	0,1	GAREM_HUMAN	GAREM	HGNC	.	.	UPI00005A72DA	SNV	GAREM,missense_variant,p.Ser108Ile,ENST00000399218,;GAREM,missense_variant,p.Ser108Ile,ENST00000269209,;GAREM,non_coding_transcript_exon_variant,,ENST00000578619,;	327	232	156	SUCCESS
DTNA	1837	.	GRCh37	18	32438291	32438291	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	35	94	0	ENST00000399113.3:c.1494A>G	p.Glu498=	p.E498=	ENST00000399113		498	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS59312.1	1314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAACAAGC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF268,PIRSF_domain:PIRSF038204	.	.	ENSP00000470152	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000598334	Transcript	.	.	ENSG00000134769	3057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DTNA	HGNC	M0QYX6_HUMAN,K7ERZ2_HUMAN,K7ERH7_HUMAN,K7ER73_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN	.	UPI0001E92A2F	SNV	DTNA,synonymous_variant,p.%3D,ENST00000399113,;DTNA,synonymous_variant,p.%3D,ENST00000348997,;DTNA,synonymous_variant,p.%3D,ENST00000598334,;DTNA,synonymous_variant,p.%3D,ENST00000598774,;DTNA,synonymous_variant,p.%3D,ENST00000597599,;DTNA,synonymous_variant,p.%3D,ENST00000587723,;DTNA,synonymous_variant,p.%3D,ENST00000597674,;DTNA,synonymous_variant,p.%3D,ENST00000444659,;DTNA,synonymous_variant,p.%3D,ENST00000399121,;DTNA,synonymous_variant,p.%3D,ENST00000269190,;DTNA,synonymous_variant,p.%3D,ENST00000556414,;DTNA,synonymous_variant,p.%3D,ENST00000269191,;DTNA,synonymous_variant,p.%3D,ENST00000591182,;DTNA,synonymous_variant,p.%3D,ENST00000596745,;DTNA,synonymous_variant,p.%3D,ENST00000598142,;DTNA,synonymous_variant,p.%3D,ENST00000599844,;DTNA,synonymous_variant,p.%3D,ENST00000269192,;DTNA,synonymous_variant,p.%3D,ENST00000595022,;DTNA,synonymous_variant,p.%3D,ENST00000601125,;DTNA,synonymous_variant,p.%3D,ENST00000283365,;DTNA,synonymous_variant,p.%3D,ENST00000399097,;DTNA,downstream_gene_variant,,ENST00000601895,;DTNA,downstream_gene_variant,,ENST00000601632,;	1640	94	62	SUCCESS
MALT1	10892	.	GRCh37	18	56401614	56401614	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs888212988	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	62	161	0	ENST00000348428.3:c.1475+1G>A		p.X492_splice	ENST00000348428	NM_006785.3	492		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11967.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGTAAGA	NONE	.	.	.	.	.	ENSP00000319279	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348428	Transcript	.	.	ENSG00000172175	6819	.	.	HIGH	12/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MALT1_HUMAN	MALT1	HGNC	K7EP42_HUMAN	.	UPI000004D05E	SNV	MALT1,splice_donor_variant,,ENST00000345724,;MALT1,splice_donor_variant,,ENST00000348428,;RP11-126O1.4,intron_variant,,ENST00000588835,;MALT1,non_coding_transcript_exon_variant,,ENST00000589873,;	.	161	100	SUCCESS
PIGN	23556	.	GRCh37	18	59768329	59768329	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776384729	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	32	64	0	ENST00000357637.5:c.2056A>G	p.Ile686Val	p.I686V	ENST00000357637	NM_176787.4	686	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45879.1	2056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATTTGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12250,Pfam_domain:PF04987	.	.	ENSP00000350263	.	22/31	.	.	.	.	.	.	.	.	rs776384729	22/31	PASS	ENST00000357637	Transcript	.	.	ENSG00000197563	8967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.46)	.	PIGN_HUMAN	PIGN	HGNC	K7ESH9_HUMAN,K7ERX5_HUMAN,K7EQG0_HUMAN,K7EPN0_HUMAN,K7ENC3_HUMAN,K7EMD7_HUMAN,K7EM45_HUMAN,K7ELE1_HUMAN,K7EL34_HUMAN,K7EK83_HUMAN	.	UPI0000070A47	SNV	PIGN,missense_variant,p.Ile686Val,ENST00000400334,;PIGN,missense_variant,p.Ile686Val,ENST00000357637,;PIGN,downstream_gene_variant,,ENST00000586566,;PIGN,non_coding_transcript_exon_variant,,ENST00000587942,;PIGN,downstream_gene_variant,,ENST00000590948,;	2472	64	50	SUCCESS
ANKRD12	23253	.	GRCh37	18	9182491	9182491	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1367369048	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	29	66	0	ENST00000262126.4:c.61A>G	p.Met21Val	p.M21V	ENST00000262126	NM_015208.4	21	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS11843.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATATGGTA	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Met21Val,ENST00000383440,;ANKRD12,missense_variant,p.Met21Val,ENST00000546007,;ANKRD12,missense_variant,p.Met21Val,ENST00000585234,;ANKRD12,missense_variant,p.Met21Val,ENST00000262126,;ANKRD12,missense_variant,p.Met21Val,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000577992,;ANKRD12,non_coding_transcript_exon_variant,,ENST00000581758,;ANKRD12,non_coding_transcript_exon_variant,,ENST00000540578,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;RP11-21J18.1,intron_variant,,ENST00000578850,;ANKRD12,missense_variant,p.Met21Val,ENST00000581635,;	301	66	44	SUCCESS
KLF16	83855	.	GRCh37	19	1863102	1863102	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs986401397	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	26	0	ENST00000250916.4:c.395C>T	p.Pro132Leu	p.P132L	ENST00000250916	NM_031918.3	132	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12075.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCGGGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23223:SF133,hmmpanther:PTHR23223,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000250916	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000250916	Transcript	.	.	ENSG00000129911	16857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	tolerated(0.39)	.	KLF16_HUMAN	KLF16	HGNC	.	.	UPI0000126B0D	SNV	KLF16,missense_variant,p.Pro132Leu,ENST00000250916,;CTB-31O20.8,downstream_gene_variant,,ENST00000586694,;KLF16,upstream_gene_variant,,ENST00000592313,;KLF16,missense_variant,p.Pro132Leu,ENST00000541015,;	466	26	21	SUCCESS
PSG10P	653492	.	GRCh37	19	43358117	43358117	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	52	203	0	ENST00000501199.4:n.414C>G		p.*138*	ENST00000501199				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGAAATT	NONE	.	.	.	.	.	.	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000501199	Transcript	.	.	ENSG00000248257	9515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PSG10P	HGNC	.	.	.	SNV	PSG8,intron_variant,,ENST00000401467,;PSG10P,non_coding_transcript_exon_variant,,ENST00000597171,;PSG10P,non_coding_transcript_exon_variant,,ENST00000501199,;	414	203	141	SUCCESS
ZNF229	7772	.	GRCh37	19	44934591	44934591	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777755309	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	146	0	ENST00000588931.1:c.365G>C	p.Cys122Ser	p.C122S	ENST00000588931	NM_014518.2	122	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS42574.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTACAGTCT	NONE	byFrequency	.	hmmpanther:PTHR24377	.	.	ENSP00000466519	.	6/6	.	.	.	.	.	.	.	.	rs777755309	6/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,missense_variant,p.Cys122Ser,ENST00000588931,;ZNF229,missense_variant,p.Cys116Ser,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	799	146	95	SUCCESS
CYTH2	9266	.	GRCh37	19	48981822	48981822	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	56	0	ENST00000427476.1:c.1088A>G	p.Glu363Gly	p.E363G	ENST00000427476	NM_017457.5	363	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12722.1	1085	RADIA|VARSCANS	.	GGAGGAGAAGG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10663:SF123,hmmpanther:PTHR10663,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000408236	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000452733	Transcript	.	.	ENSG00000105443	9502	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	CYH2_HUMAN	CYTH2	HGNC	M0QZ92_HUMAN	.	UPI000000009E	SNV	CYTH2,missense_variant,p.Glu363Gly,ENST00000427476,;CYTH2,missense_variant,p.Glu362Gly,ENST00000452733,;CYTH2,downstream_gene_variant,,ENST00000595765,;CYTH2,downstream_gene_variant,,ENST00000325139,;CTC-273B12.8,upstream_gene_variant,,ENST00000599877,;CTC-273B12.8,upstream_gene_variant,,ENST00000600597,;CYTH2,3_prime_UTR_variant,,ENST00000391881,;CYTH2,non_coding_transcript_exon_variant,,ENST00000493260,;CYTH2,downstream_gene_variant,,ENST00000467412,;CYTH2,downstream_gene_variant,,ENST00000460595,;CYTH2,downstream_gene_variant,,ENST00000474209,;	1561	56	38	SUCCESS
SYT3	84258	.	GRCh37	19	51133064	51133064	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770412233	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	77	0	ENST00000338916.4:c.1039C>A	p.Arg347Ser	p.R347S	ENST00000338916	NM_032298.2	347	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS12798.1	1039	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCGGTCAG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000340914	.	3/9	.	.	.	.	.	.	.	.	rs770412233	3/9	PASS	ENST00000338916	Transcript	.	.	ENSG00000213023	11511	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.51)	.	deleterious(0)	.	SYT3_HUMAN	SYT3	HGNC	M0QY70_HUMAN	.	UPI0000047AEB	SNV	SYT3,missense_variant,p.Arg347Ser,ENST00000593901,;SYT3,missense_variant,p.Arg347Ser,ENST00000600079,;SYT3,missense_variant,p.Arg347Ser,ENST00000544769,;SYT3,missense_variant,p.Arg347Ser,ENST00000338916,;SYT3,downstream_gene_variant,,ENST00000598997,;SYT3,upstream_gene_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	1673	77	29	SUCCESS
LILRA5	353514	.	GRCh37	19	54823336	54823336	+	synonymous_variant	Silent	SNP	C	C	A	rs1327100030	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	101	249	0	ENST00000432233.3:c.207G>T	p.Gly69=	p.G69=	ENST00000432233	NM_181879.2	69	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12888.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCCCCTG	NONE	.	.	hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000301219	.	4/7	.	.	.	.	.	.	.	.	COSM3538729,COSM3538730	4/7	PASS	ENST00000301219	Transcript	.	.	ENSG00000187116	16309	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	LIRA5_HUMAN	LILRA5	HGNC	.	.	UPI0000034C06	SNV	LILRA5,synonymous_variant,p.%3D,ENST00000346508,;LILRA5,synonymous_variant,p.%3D,ENST00000432233,;LILRA5,synonymous_variant,p.%3D,ENST00000301219,;LILRA5,synonymous_variant,p.%3D,ENST00000446712,;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,upstream_gene_variant,,ENST00000477720,;	327	249	171	SUCCESS
LILRA1	11024	.	GRCh37	19	55111991	55111991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	86	0	ENST00000251372.3:c.1327C>A	p.Leu443Ile	p.L443I	ENST00000251372	NM_006863.3	443	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS12901.1	1327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCTCAGC	NONE	.	.	hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,PIRSF_domain:PIRSF001979	.	.	ENSP00000251372	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000251372	Transcript	.	.	ENSG00000104974	6602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.09)	.	LIRA1_HUMAN	LILRA1	HGNC	.	.	UPI0000034C00	SNV	LILRA1,missense_variant,p.Leu243Ile,ENST00000453777,;LILRA1,missense_variant,p.Leu443Ile,ENST00000251372,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,downstream_gene_variant,,ENST00000495417,;LILRA1,downstream_gene_variant,,ENST00000477255,;	1509	86	58	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150131276	150131276	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs959973169	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	13	101	0	ENST00000369124.4:c.788C>T	p.Pro263Leu	p.P263L	ENST00000369124	NM_016274.4	263	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS945.1	788	MUTECT|MUSE	.	GACGCCCACAG	NONE	.	.	hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871	.	.	ENSP00000358120	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.68)	.	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,missense_variant,p.Pro143Leu,ENST00000441340,;PLEKHO1,missense_variant,p.Pro80Leu,ENST00000369126,;PLEKHO1,missense_variant,p.Pro229Leu,ENST00000025469,;PLEKHO1,missense_variant,p.Pro263Leu,ENST00000369124,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;PLEKHO1,downstream_gene_variant,,ENST00000479194,;PLEKHO1,upstream_gene_variant,,ENST00000502767,;PLEKHO1,downstream_gene_variant,,ENST00000485470,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	1066	101	256	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150131673	150131673	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	312	15	134	0	ENST00000369124.4:c.1185C>G	p.Leu395=	p.L395=	ENST00000369124	NM_016274.4	395	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS945.1	1185	MUTECT|MUSE	.	CACCTCAGACA	NONE	.	.	hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871	.	.	ENSP00000358120	.	6/6	.	.	.	.	.	.	.	.	COSM1294970	6/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,synonymous_variant,p.%3D,ENST00000369126,;PLEKHO1,synonymous_variant,p.%3D,ENST00000025469,;PLEKHO1,synonymous_variant,p.%3D,ENST00000369124,;PLEKHO1,downstream_gene_variant,,ENST00000441340,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000502767,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;PLEKHO1,downstream_gene_variant,,ENST00000479194,;PLEKHO1,downstream_gene_variant,,ENST00000485470,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	1463	134	327	SUCCESS
FAM63A	0	.	GRCh37	1	150975295	150975295	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	12	22	0	ENST00000361738.6:c.56-113T>C		p.*19*	ENST00000361738	NM_001163258.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53361.1	.	MUTECT|MUSE|VARSCANS	.	TGGCTATGGGC	NONE	.	.	.	.	.	ENSP00000354669	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361738	Transcript	.	.	ENSG00000143409	25648	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA63A_HUMAN	FAM63A	HGNC	.	.	UPI0001AE7915	SNV	FAM63A,5_prime_UTR_variant,,ENST00000361936,;FAM63A,intron_variant,,ENST00000312210,;FAM63A,intron_variant,,ENST00000361738,;FAM63A,intron_variant,,ENST00000493834,;FAM63A,upstream_gene_variant,,ENST00000497067,;FAM63A,intron_variant,,ENST00000470877,;	.	22	132	SUCCESS
S100A10	6281	.	GRCh37	1	151955763	151955763	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1354270242	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	416	14	80	0	ENST00000368809.1:c.170A>T	p.Lys57Met	p.K57M	ENST00000368809		57	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS1008.1	170	MUTECT|MUSE	.	GGTCCTTCATT	NONE	.	.	hmmpanther:PTHR11639:SF56,hmmpanther:PTHR11639,PROSITE_patterns:PS00303,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357801	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368811	Transcript	.	.	ENSG00000197747	10487	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	S10AA_HUMAN	S100A10	HGNC	D3DV26_HUMAN	.	UPI0000005BAB	SNV	S100A10,missense_variant,p.Lys57Met,ENST00000368811,;S100A10,missense_variant,p.Lys57Met,ENST00000368809,;S100A10,non_coding_transcript_exon_variant,,ENST00000478574,;S100A10,downstream_gene_variant,,ENST00000478348,;	830	80	430	SUCCESS
CTA-134P22.2	0	.	GRCh37	1	159166944	159166944	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	32	0	ENST00000415675.2:n.2215C>A		p.*739*	ENST00000415675				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1182.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGTGACG	NONE	.	.	.	.	.	ENSP00000357106	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368124	Transcript	.	.	ENSG00000162706	17601	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADM3_HUMAN	CADM3	HGNC	.	.	UPI000006E8A2	SNV	CADM3,intron_variant,,ENST00000368124,;CADM3,intron_variant,,ENST00000368125,;CADM3,downstream_gene_variant,,ENST00000416746,;CTA-134P22.2,non_coding_transcript_exon_variant,,ENST00000415675,;CTA-134P22.2,downstream_gene_variant,,ENST00000609696,;CADM3,intron_variant,,ENST00000497636,;	.	32	17	SUCCESS
DHX9	1660	.	GRCh37	1	182823304	182823304	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762343257	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	86	193	0	ENST00000367549.3:c.617A>G	p.Asp206Gly	p.D206G	ENST00000367549	NM_001357.4	206	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS41444.1	617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGATCACA	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000356520	.	6/28	.	.	.	.	.	.	.	.	rs762343257	6/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Asp206Gly,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000479271,;DHX9,upstream_gene_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000483416,;	727	193	145	SUCCESS
LINC00862	554279	.	GRCh37	1	200311816	200311816	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	58	115	0	ENST00000367355.1:n.1273G>A		p.*425*	ENST00000367355				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATCGCTGC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367355	Transcript	.	.	ENSG00000203721	21901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00862	HGNC	.	.	.	SNV	LINC00862,non_coding_transcript_exon_variant,,ENST00000367355,;LINC00862,non_coding_transcript_exon_variant,,ENST00000367356,;	1273	115	116	SUCCESS
VWA5B1	127731	.	GRCh37	1	20657389	20657389	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372275354	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	68	178	0	ENST00000375079.2:c.1485C>A	p.Asn495Lys	p.N495K	ENST00000375079	NM_001039500.2	495	aaC/aaA	0	T:0	.	.	.	.	A	N/K	protein_coding	YES	.	1485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAACGTCTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF109,hmmpanther:PTHR10338,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	T:0.0006	ENSP00000364220	.	11/22	.	.	.	.	.	.	.	.	rs372275354	11/22	PASS	ENST00000375079	Transcript	.	.	ENSG00000158816	26538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.25)	.	VW5B1_HUMAN	VWA5B1	HGNC	E9PQ62_HUMAN,E9PP07_HUMAN	.	UPI000066D8B8	SNV	VWA5B1,missense_variant,p.Asn495Lys,ENST00000375079,;VWA5B1,missense_variant,p.Asn495Lys,ENST00000375083,;VWA5B1,missense_variant,p.Asn212Lys,ENST00000289825,;VWA5B1,missense_variant,p.Asn495Lys,ENST00000289815,;VWA5B1,upstream_gene_variant,,ENST00000525343,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,3_prime_UTR_variant,,ENST00000473325,;VWA5B1,upstream_gene_variant,,ENST00000467486,;	1681	178	124	SUCCESS
ZBTB40	9923	.	GRCh37	1	22816452	22816452	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	41	0	ENST00000375647.4:c.11C>G	p.Pro4Arg	p.P4R	ENST00000375647	NM_014870.3	4	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS224.1	11	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTCCCCAACT	NONE	.	.	hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394,Gene3D:3.30.710.10,Superfamily_domains:SSF54695	.	.	ENSP00000384527	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.218)	.	deleterious(0)	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,missense_variant,p.Pro4Arg,ENST00000404138,;ZBTB40,missense_variant,p.Pro4Arg,ENST00000375647,;ZBTB40,missense_variant,p.Pro4Arg,ENST00000374651,;ZBTB40,missense_variant,p.Pro4Arg,ENST00000400239,;	522	41	47	SUCCESS
CSMD2	114784	.	GRCh37	1	34312563	34312563	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	45	0	ENST00000241312.4:c.835A>G	p.Ser279Gly	p.S279G	ENST00000241312		279	Agc/Ggc	0	.	.	.	.	.	C	S/G	nonsense_mediated_decay	YES	CCDS380.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGATAA	BUFFER|p.P316P|c.948C>T|3,BUFFER|p.P276P|c.828C>T|3	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	6/70	.	.	.	.	.	.	.	.	.	6/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Ser319Gly,ENST00000373381,;CSMD2,missense_variant,p.Ser279Gly,ENST00000241312,;	864	45	39	SUCCESS
DNAJC6	9829	.	GRCh37	1	65775451	65775451	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	108	0	ENST00000395325.3:c.22+44836G>A		p.*8*	ENST00000395325	NM_014787.3	8		0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS58004.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCGGAAAA	NONE	.	.	.	.	.	ENSP00000360108	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	deleterious_low_confidence(0.02)	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,missense_variant,p.Arg8Gln,ENST00000371069,;DNAJC6,intron_variant,,ENST00000395325,;DNAJC6,intron_variant,,ENST00000263441,;DNAJC6,intron_variant,,ENST00000494710,;RP5-1044H5.1,upstream_gene_variant,,ENST00000435739,;DNAJC6,intron_variant,,ENST00000463018,;DNAJC6,intron_variant,,ENST00000483402,;	224	108	96	SUCCESS
SLC44A5	204962	.	GRCh37	1	75805298	75805298	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781470649	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	59	0	ENST00000370855.5:c.70G>T	p.Asp24Tyr	p.D24Y	ENST00000370855	NM_152697.4	24	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS667.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCATATG	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385	.	.	ENSP00000359892	.	4/24	.	.	.	.	.	.	.	.	rs781470649	4/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,missense_variant,p.Asp24Tyr,ENST00000370855,;SLC44A5,missense_variant,p.Asp24Tyr,ENST00000370859,;SLC44A5,5_prime_UTR_variant,,ENST00000535611,;SLC44A5,non_coding_transcript_exon_variant,,ENST00000469525,;	184	59	56	SUCCESS
ERGIC3	51614	.	GRCh37	20	34130635	34130635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	127	0	ENST00000348547.2:c.312C>A	p.Phe104Leu	p.F104L	ENST00000348547	NM_015966.2	104	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS13258.1	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCAAGCA	NONE	.	.	hmmpanther:PTHR10984,hmmpanther:PTHR10984:SF25	.	.	ENSP00000349970	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000357394	Transcript	.	.	ENSG00000125991	15927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.06)	.	ERGI3_HUMAN	ERGIC3	HGNC	.	.	UPI000013CBE0	SNV	ERGIC3,missense_variant,p.Phe106Leu,ENST00000413587,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000357394,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000447986,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000348547,;ERGIC3,missense_variant,p.Phe103Leu,ENST00000416206,;ERGIC3,missense_variant,p.Phe98Leu,ENST00000411577,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000279052,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000486268,;ERGIC3,upstream_gene_variant,,ENST00000482338,;ERGIC3,upstream_gene_variant,,ENST00000489071,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000438317,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000496172,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000461043,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000492184,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000476926,;RPL36P4,downstream_gene_variant,,ENST00000456725,;	372	127	125	SUCCESS
SLC12A5	57468	.	GRCh37	20	44686186	44686186	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	57	160	0	ENST00000454036.2:c.3362T>G	p.Leu1121Arg	p.L1121R	ENST00000454036	NM_001134771.1	1121	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS46610.1	3362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGGACC	NONE	.	.	hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000387694	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,missense_variant,p.Leu1121Arg,ENST00000454036,;SLC12A5,missense_variant,p.Leu1098Arg,ENST00000243964,;NCOA5,downstream_gene_variant,,ENST00000290231,;	3411	160	145	SUCCESS
CDH22	64405	.	GRCh37	20	44856179	44856179	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	41	0	ENST00000372262.3:c.638del	p.Gly213AlafsTer13	p.G213Afs*13	ENST00000372262		213	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS13395.1	638	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTCGCCGTCC	BUFFER|p.V210M|c.628G>A|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000361336	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000372262	Transcript	.	.	ENSG00000149654	13251	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAD22_HUMAN	CDH22	HGNC	Q49AS4_HUMAN	.	UPI0000126DC0	deletion	CDH22,frameshift_variant,p.Gly213AlafsTer13,ENST00000372262,;CDH22,frameshift_variant,p.Gly213AlafsTer13,ENST00000537909,;	1039	41	50	SUCCESS
BACE2	25825	.	GRCh37	21	42622762	42622762	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	89	191	0	ENST00000330333.6:c.1068T>A	p.Pro356=	p.P356=	ENST00000330333	NM_012105.4	356	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13668.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTAAAAT	NONE	.	.	hmmpanther:PTHR13683:SF262,hmmpanther:PTHR13683,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	.	.	ENSP00000332979	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,synonymous_variant,p.%3D,ENST00000328735,;BACE2,synonymous_variant,p.%3D,ENST00000330333,;BACE2,intron_variant,,ENST00000347667,;BACE2,non_coding_transcript_exon_variant,,ENST00000465326,;BACE2,non_coding_transcript_exon_variant,,ENST00000466122,;BACE2,non_coding_transcript_exon_variant,,ENST00000487994,;BACE2,non_coding_transcript_exon_variant,,ENST00000463674,;BACE2,upstream_gene_variant,,ENST00000475618,;BACE2,downstream_gene_variant,,ENST00000491838,;	1531	191	190	SUCCESS
FAM207A	85395	.	GRCh37	21	46396679	46396679	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	19	0	ENST00000291634.6:c.654G>A	p.Leu218=	p.L218=	ENST00000291634	NM_058190.2	218	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13718.1	654	RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTGGCCCG	NONE	.	.	hmmpanther:PTHR31109,Pfam_domain:PF15341	.	.	ENSP00000291634	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000291634	Transcript	.	.	ENSG00000160256	15811	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F207A_HUMAN	FAM207A	HGNC	.	.	UPI00001286B9	SNV	FAM207A,synonymous_variant,p.%3D,ENST00000291634,;FAM207A,synonymous_variant,p.%3D,ENST00000397826,;FAM207A,non_coding_transcript_exon_variant,,ENST00000479127,;FAM207A,non_coding_transcript_exon_variant,,ENST00000485207,;	702	19	28	SUCCESS
CECR1	0	.	GRCh37	22	17662466	17662466	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs774795047	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	50	139	0	ENST00000399839.1:c.1443G>T	p.Lys481Asn	p.K481N	ENST00000399839	NM_001282228.1	481	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS13742.1	1443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTACCTGCA	NONE	byFrequency	.	Superfamily_domains:SSF51556,Pfam_domain:PF00962,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01431,hmmpanther:PTHR11409:SF39,hmmpanther:PTHR11409	.	.	ENSP00000382733	.	10/10	.	.	.	.	.	.	.	.	rs774795047	10/10	PASS	ENST00000399839	Transcript	.	.	ENSG00000093072	1839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0.03)	.	CECR1_HUMAN	CECR1	HGNC	F5H7J3_HUMAN,C9IZA8_HUMAN,B4E3Q4_HUMAN,B4DHM2_HUMAN	.	UPI000013D2E8	SNV	CECR1,missense_variant,p.Lys481Asn,ENST00000262607,;CECR1,missense_variant,p.Lys439Asn,ENST00000449907,;CECR1,missense_variant,p.Lys481Asn,ENST00000399839,;CECR1,missense_variant,p.Lys481Asn,ENST00000399837,;CECR1,missense_variant,p.Lys240Asn,ENST00000330232,;CECR1,downstream_gene_variant,,ENST00000469063,;	1714	139	101	SUCCESS
PLA2G3	50487	.	GRCh37	22	31533849	31533849	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs768549481	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	85	253	0	ENST00000215885.3:c.913A>T	p.Lys305Ter	p.K305*	ENST00000215885	NM_015715.3	305	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS13889.1	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTTCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253	.	.	ENSP00000215885	.	4/7	.	.	.	.	.	.	.	.	rs768549481	4/7	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,stop_gained,p.Lys305Ter,ENST00000215885,;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000412277,;INPP5J,downstream_gene_variant,,ENST00000405300,;INPP5J,downstream_gene_variant,,ENST00000404390,;INPP5J,downstream_gene_variant,,ENST00000331075,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000461241,;	1166	253	154	SUCCESS
TOM1	10043	.	GRCh37	22	35717981	35717981	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	89	0	ENST00000449058.2:c.167A>G	p.Lys56Arg	p.K56R	ENST00000449058	NM_005488.2	56	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46696.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGAGAA	NONE	.	.	Superfamily_domains:SSF48464,SMART_domains:SM00288,PIRSF_domain:PIRSF036948,Pfam_domain:PF00790,Gene3D:1.25.40.90,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF32,PROSITE_profiles:PS50179	.	.	ENSP00000413697	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000411850	Transcript	.	.	ENSG00000100284	11982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	TOM1_HUMAN	TOM1	HGNC	B0QY02_HUMAN	.	UPI000000DB48	SNV	TOM1,missense_variant,p.Lys56Arg,ENST00000456128,;TOM1,missense_variant,p.Lys56Arg,ENST00000411850,;TOM1,missense_variant,p.Lys23Arg,ENST00000443206,;TOM1,missense_variant,p.Lys56Arg,ENST00000449058,;TOM1,missense_variant,p.Lys56Arg,ENST00000425375,;TOM1,missense_variant,p.Lys23Arg,ENST00000608674,;TOM1,missense_variant,p.Lys23Arg,ENST00000447733,;TOM1,missense_variant,p.Lys23Arg,ENST00000608749,;TOM1,5_prime_UTR_variant,,ENST00000382034,;TOM1,intron_variant,,ENST00000436462,;TOM1,missense_variant,p.Lys56Arg,ENST00000439512,;TOM1,missense_variant,p.Lys56Arg,ENST00000395736,;TOM1,3_prime_UTR_variant,,ENST00000424387,;TOM1,3_prime_UTR_variant,,ENST00000404284,;TOM1,non_coding_transcript_exon_variant,,ENST00000487670,;TOM1,intron_variant,,ENST00000449508,;TOM1,upstream_gene_variant,,ENST00000491987,;TOM1,upstream_gene_variant,,ENST00000497448,;TOM1,downstream_gene_variant,,ENST00000465529,;	292	89	60	SUCCESS
LDOC1L	0	.	GRCh37	22	44893536	44893536	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	31	0	ENST00000341255.3:c.-100G>T		p.*34*	ENST00000341255	NM_032287.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33662.1	.	MUTECT|MUSE	.	GTGCACGACGG	NONE	.	.	.	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,5_prime_UTR_variant,,ENST00000341255,;	411	31	8	SUCCESS
RANBP2	5903	.	GRCh37	2	109381074	109381074	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1305599461	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	46	142	0	ENST00000283195.6:c.4079G>A	p.Ser1360Asn	p.S1360N	ENST00000283195	NM_006267.4	1360	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS2079.1	4079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGCTGCT	NONE	.	.	PROSITE_profiles:PS50199,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,PROSITE_patterns:PS01358,Pfam_domain:PF00641,SMART_domains:SM00547	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	tolerated(0.34)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Ser1360Asn,ENST00000283195,;	4205	142	97	SUCCESS
KCNJ3	3760	.	GRCh37	2	155555841	155555841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	75	0	ENST00000295101.2:c.554C>A	p.Ser185Tyr	p.S185Y	ENST00000295101	NM_002239.3	185	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2200.1	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCCCAGC	NONE	.	.	hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Superfamily_domains:SSF81296	.	.	ENSP00000295101	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295101	Transcript	.	.	ENSG00000162989	6264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,missense_variant,p.Ser185Tyr,ENST00000295101,;KCNJ3,missense_variant,p.Ser185Tyr,ENST00000544049,;AC061961.2,upstream_gene_variant,,ENST00000443901,;	1031	75	69	SUCCESS
XIRP2	129446	.	GRCh37	2	168100239	168100239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	100	254	0	ENST00000409195.1:c.2337G>T	p.Leu779Phe	p.L779F	ENST00000409195	NM_152381.5	779	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS42769.1	2337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTGGACAC	NONE	.	.	Pfam_domain:PF08043,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,PROSITE_profiles:PS51389	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Leu557Phe,ENST00000409273,;XIRP2,missense_variant,p.Leu779Phe,ENST00000409195,;XIRP2,missense_variant,p.Leu779Phe,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2426	254	195	SUCCESS
OSBPL6	114880	.	GRCh37	2	179170928	179170928	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	41	87	0	ENST00000190611.4:c.17A>G	p.Lys6Arg	p.K6R	ENST00000190611	NM_032523.3	6	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS56150.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAAGGGCA	NONE	.	.	.	.	.	ENSP00000376293	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000392505	Transcript	.	.	ENSG00000079156	16388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.55)	.	OSBL6_HUMAN	OSBPL6	HGNC	.	.	UPI0000E5A29F	SNV	OSBPL6,missense_variant,p.Lys6Arg,ENST00000409631,;OSBPL6,missense_variant,p.Lys6Arg,ENST00000409045,;OSBPL6,missense_variant,p.Lys6Arg,ENST00000359685,;OSBPL6,missense_variant,p.Lys6Arg,ENST00000392505,;OSBPL6,missense_variant,p.Lys6Arg,ENST00000190611,;OSBPL6,missense_variant,p.Lys6Arg,ENST00000357080,;	561	87	75	SUCCESS
HIBCH	26275	.	GRCh37	2	191155206	191155206	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	49	113	0	ENST00000359678.5:c.310T>G	p.Ser104Ala	p.S104A	ENST00000359678	NM_198047.2	104	Tcg/Gcg	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS2304.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGAGATCA	NONE	.	.	hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000352706	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000359678	Transcript	.	.	ENSG00000198130	4908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.6)	.	HIBCH_HUMAN	HIBCH	HGNC	B9A058_HUMAN	.	UPI000013F16E	SNV	HIBCH,missense_variant,p.Ser104Ala,ENST00000359678,;HIBCH,missense_variant,p.Ser104Ala,ENST00000392332,;HIBCH,missense_variant,p.Ser158Ala,ENST00000409934,;HIBCH,missense_variant,p.Ser3Ala,ENST00000392333,;	605	113	115	SUCCESS
DNAH7	56171	.	GRCh37	2	196825086	196825086	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	99	0	ENST00000312428.6:c.2789T>C	p.Leu930Ser	p.L930S	ENST00000312428	NM_018897.2	930	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS42794.1	2789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCAAAATA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000311273	.	18/65	.	.	.	.	.	.	.	.	.	18/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Leu930Ser,ENST00000312428,;	2890	99	91	SUCCESS
SGOL2	0	.	GRCh37	2	201400832	201400832	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	88	0	ENST00000357799.4:c.354G>C	p.Leu118Phe	p.L118F	ENST00000357799	NM_152524.5	118	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS42796.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGATAAC	NONE	.	.	hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577	.	.	ENSP00000350447	.	4/9	.	.	.	.	.	.	.	.	COSM1306280	4/9	PASS	ENST00000357799	Transcript	.	.	ENSG00000163535	30812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	SGOL2_HUMAN	SGOL2	HGNC	C9JW92_HUMAN	.	UPI00001AEBF5	SNV	SGOL2,missense_variant,p.Leu118Phe,ENST00000409203,;SGOL2,missense_variant,p.Leu118Phe,ENST00000357799,;SGOL2,downstream_gene_variant,,ENST00000418045,;SGOL2,non_coding_transcript_exon_variant,,ENST00000469840,;SGOL2,downstream_gene_variant,,ENST00000460534,;SGOL2,non_coding_transcript_exon_variant,,ENST00000488636,;	452	88	90	SUCCESS
ABI2	10152	.	GRCh37	2	204193320	204193320	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758681743	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	83	0	ENST00000295851.5:c.83G>T	p.Arg28Leu	p.R28L	ENST00000295851	NM_001282925.1	28	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS2358.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACGGGTGG	NONE	.	.	hmmpanther:PTHR10460:SF3,hmmpanther:PTHR10460	.	.	ENSP00000261017	.	1/10	.	.	.	.	.	.	.	.	rs758681743	1/10	PASS	ENST00000261017	Transcript	.	.	ENSG00000138443	24011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.02)	.	ABI2_HUMAN	ABI2	HGNC	Q53SH3_HUMAN,Q53RS4_HUMAN,B7ZAM8_HUMAN	.	UPI0000070712	SNV	ABI2,missense_variant,p.Arg28Leu,ENST00000417864,;ABI2,missense_variant,p.Arg28Leu,ENST00000295851,;ABI2,missense_variant,p.Arg28Leu,ENST00000424558,;ABI2,missense_variant,p.Arg28Leu,ENST00000261017,;ABI2,missense_variant,p.Arg28Leu,ENST00000430418,;ABI2,missense_variant,p.Arg28Leu,ENST00000422511,;ABI2,5_prime_UTR_variant,,ENST00000261016,;RP11-363J17.1,intron_variant,,ENST00000469747,;ABI2,non_coding_transcript_exon_variant,,ENST00000376135,;ABI2,missense_variant,p.Arg28Leu,ENST00000413635,;ABI2,missense_variant,p.Arg28Leu,ENST00000431886,;ABI2,missense_variant,p.Arg28Leu,ENST00000447762,;ABI2,missense_variant,p.Arg28Leu,ENST00000425253,;ABI2,missense_variant,p.Arg28Leu,ENST00000441061,;ABI2,missense_variant,p.Arg28Leu,ENST00000444584,;ABI2,missense_variant,p.Arg28Leu,ENST00000416001,;ABI2,non_coding_transcript_exon_variant,,ENST00000494215,;	318	83	69	SUCCESS
DYTN	391475	.	GRCh37	2	207530732	207530732	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	121	314	0	ENST00000452335.2:c.1002C>A	p.Asn334Lys	p.N334K	ENST00000452335	NM_001093730.1	334	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46502.1	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGTTTAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	.	.	ENSP00000396593	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000452335	Transcript	.	.	ENSG00000232125	23279	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.06)	.	DYTN_HUMAN	DYTN	HGNC	.	.	UPI0000EE0AB9	SNV	DYTN,missense_variant,p.Asn334Lys,ENST00000452335,;	1119	314	256	SUCCESS
TRIM54	57159	.	GRCh37	2	27528584	27528584	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753597613	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	80	0	ENST00000380075.2:c.742G>C	p.Gly248Arg	p.G248R	ENST00000380075	NM_187841.2	248	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS1745.2	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGGCCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318	.	.	ENSP00000296098	.	6/10	.	.	.	.	.	.	.	.	rs753597613	6/10	PASS	ENST00000296098	Transcript	.	.	ENSG00000138100	16008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	deleterious(0.02)	.	TRI54_HUMAN	TRIM54	HGNC	.	.	UPI000020814F	SNV	TRIM54,missense_variant,p.Gly290Arg,ENST00000296098,;TRIM54,missense_variant,p.Gly248Arg,ENST00000380075,;MPV17,downstream_gene_variant,,ENST00000405076,;MPV17,downstream_gene_variant,,ENST00000380044,;UCN,downstream_gene_variant,,ENST00000296099,;MPV17,downstream_gene_variant,,ENST00000435114,;MPV17,downstream_gene_variant,,ENST00000402722,;MPV17,downstream_gene_variant,,ENST00000357186,;MPV17,downstream_gene_variant,,ENST00000233545,;MPV17,downstream_gene_variant,,ENST00000402310,;MPV17,downstream_gene_variant,,ENST00000430991,;MPV17,downstream_gene_variant,,ENST00000405983,;TRIM54,non_coding_transcript_exon_variant,,ENST00000485306,;TRIM54,non_coding_transcript_exon_variant,,ENST00000488321,;MPV17,downstream_gene_variant,,ENST00000426513,;MPV17,downstream_gene_variant,,ENST00000415514,;MPV17,downstream_gene_variant,,ENST00000489478,;	1138	81	56	SUCCESS
TCF7L1	83439	.	GRCh37	2	85361140	85361140	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	63	0	ENST00000282111.3:c.251C>A	p.Ala84Glu	p.A84E	ENST00000282111	NM_031283.2	84	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS1971.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCGGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25,Pfam_domain:PF08347	.	.	ENSP00000282111	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000282111	Transcript	.	.	ENSG00000152284	11640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.03)	.	TF7L1_HUMAN	TCF7L1	HGNC	Q53T87_HUMAN,C9JPE3_HUMAN	.	UPI0000136846	SNV	TCF7L1,missense_variant,p.Ala84Glu,ENST00000282111,;TCF7L1,upstream_gene_variant,,ENST00000494519,;	526	63	34	SUCCESS
KIAA1407	0	.	GRCh37	3	113737618	113737618	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	70	0	ENST00000295878.3:c.1070T>A	p.Leu357Gln	p.L357Q	ENST00000295878	NM_020817.1	357	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2977.1	1070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCAGCTGA	NONE	.	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.05)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Leu344Gln,ENST00000491000,;KIAA1407,missense_variant,p.Leu188Gln,ENST00000545063,;KIAA1407,missense_variant,p.Leu357Gln,ENST00000295878,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;	1217	70	67	SUCCESS
HGD	3081	.	GRCh37	3	120365198	120365198	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	37	0	ENST00000283871.5:c.565A>T	p.Ser189Cys	p.S189C	ENST00000283871	NM_000187.3	189	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS3000.1	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGCTGAACC	NONE	.	.	hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Pfam_domain:PF04209,Superfamily_domains:SSF51182	.	.	ENSP00000283871	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000283871	Transcript	.	.	ENSG00000113924	4892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	deleterious(0.03)	.	HGD_HUMAN	HGD	HGNC	B3KW64_HUMAN	.	UPI000020A025	SNV	HGD,missense_variant,p.Ser33Cys,ENST00000475447,;HGD,missense_variant,p.Ser189Cys,ENST00000283871,;HGD,upstream_gene_variant,,ENST00000494453,;HGD,downstream_gene_variant,,ENST00000476082,;HGD,downstream_gene_variant,,ENST00000485313,;HGD,intron_variant,,ENST00000492108,;HGD,upstream_gene_variant,,ENST00000470321,;	1025	37	33	SUCCESS
MYLK	4638	.	GRCh37	3	123411616	123411616	+	synonymous_variant	Silent	SNP	G	G	A	rs936245754	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	65	0	ENST00000360304.3:c.3531C>T	p.Gly1177=	p.G1177=	ENST00000360304	NM_053025.3	1177	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46896.1	3531	RADIA|MUTECT|MUSE	.	GCCTGGCCAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000353452	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000360304	Transcript	.	.	ENSG00000065534	7590	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYLK_HUMAN	MYLK	HGNC	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN	.	UPI000020A0AE	SNV	MYLK,synonymous_variant,p.%3D,ENST00000360304,;MYLK,synonymous_variant,p.%3D,ENST00000360772,;MYLK,synonymous_variant,p.%3D,ENST00000346322,;MYLK,synonymous_variant,p.%3D,ENST00000359169,;MYLK,synonymous_variant,p.%3D,ENST00000475616,;MYLK,upstream_gene_variant,,ENST00000508240,;MYLK,upstream_gene_variant,,ENST00000354792,;MYLK-AS2,downstream_gene_variant,,ENST00000515464,;MYLK-AS2,downstream_gene_variant,,ENST00000510827,;MYLK,non_coding_transcript_exon_variant,,ENST00000503644,;MYLK,non_coding_transcript_exon_variant,,ENST00000510775,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000504946,;	3813	65	39	SUCCESS
SHOX2	6474	.	GRCh37	3	157820591	157820591	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1313229623	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	79	211	1	ENST00000441443.2:c.44G>A	p.Arg15Gln	p.R15Q	ENST00000441443		15	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33884.2	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCGACTT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF311,hmmpanther:PTHR24329,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000374240	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000389589	Transcript	.	.	ENSG00000168779	10854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SHOX2_HUMAN	SHOX2	HGNC	.	.	UPI0000169EC9	SNV	SHOX2,missense_variant,p.Arg168Gln,ENST00000389589,;SHOX2,missense_variant,p.Arg15Gln,ENST00000490689,;SHOX2,missense_variant,p.Arg144Gln,ENST00000483851,;SHOX2,missense_variant,p.Arg144Gln,ENST00000425436,;SHOX2,missense_variant,p.Arg15Gln,ENST00000441443,;RSRC1,upstream_gene_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,non_coding_transcript_exon_variant,,ENST00000554685,;	639	212	173	SUCCESS
SENP2	59343	.	GRCh37	3	185318579	185318579	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	80	134	0	ENST00000296257.5:c.385G>A	p.Asp129Asn	p.D129N	ENST00000296257	NM_021627.2	129	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33902.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTGACTAT	NONE	.	.	hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF11	.	.	ENSP00000296257	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000296257	Transcript	.	.	ENSG00000163904	23116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	tolerated(0.08)	.	SENP2_HUMAN	SENP2	HGNC	J3KQD2_HUMAN,B4E2S4_HUMAN	.	UPI000007452F	SNV	SENP2,missense_variant,p.Asp119Asn,ENST00000545472,;SENP2,missense_variant,p.Asp129Asn,ENST00000296257,;SENP2,missense_variant,p.Asp183Asn,ENST00000430355,;SENP2,5_prime_UTR_variant,,ENST00000427465,;SENP2,non_coding_transcript_exon_variant,,ENST00000465201,;SENP2,3_prime_UTR_variant,,ENST00000458551,;SENP2,3_prime_UTR_variant,,ENST00000453532,;SENP2,3_prime_UTR_variant,,ENST00000413407,;SENP2,3_prime_UTR_variant,,ENST00000439684,;SENP2,non_coding_transcript_exon_variant,,ENST00000473760,;	625	135	169	SUCCESS
MUC20	200958	.	GRCh37	3	195447853	195447853	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	69	322	0	ENST00000447234.2:c.-26C>G		p.*9*	ENST00000447234	NM_001282506.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS63877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCTGTGG	NONE	.	.	.	.	.	ENSP00000414350	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	SNV	MUC20,5_prime_UTR_variant,,ENST00000447234,;MUC20,5_prime_UTR_variant,,ENST00000320736,;MUC20,5_prime_UTR_variant,,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000445522,;LINC00969,intron_variant,,ENST00000599566,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000455807,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000600288,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,intron_variant,,ENST00000432194,;LINC00969,intron_variant,,ENST00000594976,;LINC00969,downstream_gene_variant,,ENST00000600382,;LINC00969,downstream_gene_variant,,ENST00000597871,;LINC00969,downstream_gene_variant,,ENST00000593988,;LINC00969,downstream_gene_variant,,ENST00000597982,;LINC00969,downstream_gene_variant,,ENST00000594101,;MUC20,non_coding_transcript_exon_variant,,ENST00000485430,;MUC20,non_coding_transcript_exon_variant,,ENST00000480350,;	101	322	286	SUCCESS
TMPPE	643853	.	GRCh37	3	33134374	33134374	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	69	0	ENST00000342462.4:c.1314G>C	p.Leu438=	p.L438=	ENST00000342462	NM_001039770.2	438	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33732.1	1314	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCAGCCT	NONE	.	.	Superfamily_domains:SSF56300,hmmpanther:PTHR31302,hmmpanther:PTHR31302:SF0	.	.	ENSP00000343398	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342462	Transcript	.	.	ENSG00000188167	33865	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPPE_HUMAN	TMPPE	HGNC	.	.	UPI000022BF97	SNV	TMPPE,synonymous_variant,p.%3D,ENST00000342462,;TMPPE,synonymous_variant,p.%3D,ENST00000416695,;GLB1,intron_variant,,ENST00000399402,;GLB1,intron_variant,,ENST00000440656,;GLB1,intron_variant,,ENST00000450835,;GLB1,intron_variant,,ENST00000307363,;GLB1,intron_variant,,ENST00000307377,;GLB1,intron_variant,,ENST00000436768,;GLB1,intron_variant,,ENST00000445488,;GLB1,intron_variant,,ENST00000415454,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000498537,;GLB1,intron_variant,,ENST00000438227,;	1505	69	66	SUCCESS
NBEAL2	23218	.	GRCh37	3	47030821	47030821	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	83	0	ENST00000450053.3:c.423C>G	p.Leu141=	p.L141=	ENST00000450053	NM_015175.2	141	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS46817.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCTGCGA	NONE	.	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	.	ENSP00000415034	.	5/54	.	.	.	.	.	.	.	.	.	5/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,synonymous_variant,p.%3D,ENST00000450053,;NBEAL2,synonymous_variant,p.%3D,ENST00000292309,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;	602	83	65	SUCCESS
KIF9-AS1	285352	.	GRCh37	3	47281268	47281268	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	80	0	ENST00000429315.3:n.859G>A		p.*287*	ENST00000429315				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGCACCC	NONE	.	.	.	.	.	ENSP00000333942	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335044	Transcript	.	.	ENSG00000088727	16666	.	.	MODIFIER	17/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF9_HUMAN	KIF9	HGNC	.	.	UPI000012DE55	SNV	KIF9,intron_variant,,ENST00000265529,;KIF9,intron_variant,,ENST00000444589,;KIF9,intron_variant,,ENST00000352910,;KIF9,intron_variant,,ENST00000335044,;KIF9,intron_variant,,ENST00000452770,;KIF9-AS1,non_coding_transcript_exon_variant,,ENST00000429315,;KIF9,non_coding_transcript_exon_variant,,ENST00000487440,;	.	80	81	SUCCESS
KIF9-AS1	285352	.	GRCh37	3	47281269	47281269	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	83	0	ENST00000429315.3:n.860C>T		p.*287*	ENST00000429315				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCACCCC	NONE	.	.	.	.	.	ENSP00000333942	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335044	Transcript	.	.	ENSG00000088727	16666	.	.	MODIFIER	17/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF9_HUMAN	KIF9	HGNC	.	.	UPI000012DE55	SNV	KIF9,intron_variant,,ENST00000265529,;KIF9,intron_variant,,ENST00000444589,;KIF9,intron_variant,,ENST00000352910,;KIF9,intron_variant,,ENST00000335044,;KIF9,intron_variant,,ENST00000452770,;KIF9-AS1,non_coding_transcript_exon_variant,,ENST00000429315,;KIF9,non_coding_transcript_exon_variant,,ENST00000487440,;	.	83	83	SUCCESS
COL7A1	1294	.	GRCh37	3	48630129	48630129	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	41	1	ENST00000328333.8:c.850A>G	p.Asn284Asp	p.N284D	ENST00000328333	NM_000094.3	284	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS2773.1	850	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GACGTTCACCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24023,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000332371	.	7/118	.	.	.	.	.	.	.	.	.	7/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Asn284Asp,ENST00000328333,;COL7A1,missense_variant,p.Asn284Asp,ENST00000454817,;	958	42	24	SUCCESS
ROBO2	6092	.	GRCh37	3	77629195	77629195	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	79	166	0	ENST00000461745.1:c.2426A>C	p.Gln809Pro	p.Q809P	ENST00000461745	NM_002942.4	809	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS54609.1	2474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCAATACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	tolerated(0.31)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Gln809Pro,ENST00000332191,;ROBO2,missense_variant,p.Gln829Pro,ENST00000602589,;ROBO2,missense_variant,p.Gln809Pro,ENST00000461745,;ROBO2,missense_variant,p.Gln825Pro,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2753	166	89	SUCCESS
ANK2	287	.	GRCh37	4	113970842	113970842	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	45	0	ENST00000357077.4:c.-43C>A		p.*15*	ENST00000357077	NM_001148.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3702.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCACGGT	NONE	.	.	.	.	.	ENSP00000349588	.	1/46	.	.	.	.	.	.	.	.	.	1/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,5_prime_UTR_variant,,ENST00000394537,;ANK2,5_prime_UTR_variant,,ENST00000357077,;ANK2,5_prime_UTR_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000503271,;ANK2,intron_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000506722,;ANK2,upstream_gene_variant,,ENST00000264366,;RP11-650J17.1,intron_variant,,ENST00000508959,;ANK2,non_coding_transcript_exon_variant,,ENST00000514246,;	11	45	34	SUCCESS
NPY5R	4889	.	GRCh37	4	164272591	164272591	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1341557653	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	78	181	0	ENST00000338566.3:c.1166T>A	p.Val389Glu	p.V389E	ENST00000338566	NM_006174.2	389	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS3804.1	1166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTGGTAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01016	.	.	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,missense_variant,p.Val389Glu,ENST00000506953,;NPY5R,missense_variant,p.Val389Glu,ENST00000515560,;NPY5R,missense_variant,p.Val389Glu,ENST00000338566,;	2688	181	140	SUCCESS
DDX60	55601	.	GRCh37	4	169201507	169201507	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	130	262	0	ENST00000393743.3:c.1957G>C	p.Glu653Gln	p.E653Q	ENST00000393743	NM_017631.5	653	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34097.1	1957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCTTTCC	NONE	.	.	hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752	.	.	ENSP00000377344	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000393743	Transcript	.	.	ENSG00000137628	25942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	deleterious(0.04)	.	DDX60_HUMAN	DDX60	HGNC	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN	.	UPI000020B6AB	SNV	DDX60,missense_variant,p.Glu653Gln,ENST00000393743,;	2249	262	223	SUCCESS
DDX60L	91351	.	GRCh37	4	169382958	169382958	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1299204704	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	98	0	ENST00000260184.7:c.498G>A	p.Trp166Ter	p.W166*	ENST00000260184	NM_001012967.1	166	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS47161.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCCCAGGA	NONE	.	.	.	.	.	ENSP00000260184	.	5/38	.	.	.	.	.	.	.	.	.	5/38	PASS	ENST00000260184	Transcript	.	.	ENSG00000181381	26429	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX6L_HUMAN	DDX60L	HGNC	D6RIU1_HUMAN,D6RBA2_HUMAN,D6RB62_HUMAN	.	UPI0001553B03	SNV	DDX60L,stop_gained,p.Trp166Ter,ENST00000511577,;DDX60L,stop_gained,p.Trp166Ter,ENST00000505890,;DDX60L,stop_gained,p.Trp166Ter,ENST00000260184,;DDX60L,downstream_gene_variant,,ENST00000514748,;DDX60L,downstream_gene_variant,,ENST00000505696,;	719	98	76	SUCCESS
PCDH7	5099	.	GRCh37	4	30724910	30724910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	59	0	ENST00000361762.2:c.1866C>A	p.Ser622Arg	p.S622R	ENST00000361762	NM_002589.2	622	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS54753.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCACTAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	deleterious(0.01)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Ser312Arg,ENST00000511884,;PCDH7,missense_variant,p.Ser622Arg,ENST00000543491,;PCDH7,missense_variant,p.Ser622Arg,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	1866	59	70	SUCCESS
PCDH7	5099	.	GRCh37	4	30725405	30725405	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	84	0	ENST00000361762.2:c.2361T>A	p.Asn787Lys	p.N787K	ENST00000361762	NM_002589.2	787	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS54753.1	2361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATCCCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Asn477Lys,ENST00000511884,;PCDH7,missense_variant,p.Asn787Lys,ENST00000543491,;PCDH7,missense_variant,p.Asn787Lys,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	2361	84	75	SUCCESS
LPHN3	0	.	GRCh37	4	62936605	62936605	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	48	56	0	ENST00000514591.1:c.4389T>C	p.Ala1463=	p.A1463=	ENST00000514591		1463	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54768.1	4389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCTCATTT	NONE	.	.	Pfam_domain:PF02354	.	.	ENSP00000422533	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,synonymous_variant,p.%3D,ENST00000507625,;LPHN3,synonymous_variant,p.%3D,ENST00000508946,;LPHN3,synonymous_variant,p.%3D,ENST00000502815,;LPHN3,synonymous_variant,p.%3D,ENST00000545650,;LPHN3,synonymous_variant,p.%3D,ENST00000506720,;LPHN3,synonymous_variant,p.%3D,ENST00000514591,;LPHN3,synonymous_variant,p.%3D,ENST00000506746,;LPHN3,synonymous_variant,p.%3D,ENST00000514996,;LPHN3,3_prime_UTR_variant,,ENST00000506700,;LPHN3,3_prime_UTR_variant,,ENST00000509896,;LPHN3,3_prime_UTR_variant,,ENST00000511324,;LPHN3,3_prime_UTR_variant,,ENST00000504896,;LPHN3,3_prime_UTR_variant,,ENST00000508693,;LPHN3,3_prime_UTR_variant,,ENST00000512091,;LPHN3,3_prime_UTR_variant,,ENST00000514157,;LPHN3,3_prime_UTR_variant,,ENST00000507164,;RP11-84A1.3,downstream_gene_variant,,ENST00000504135,;RP11-84A1.3,downstream_gene_variant,,ENST00000509461,;RP11-84A1.3,downstream_gene_variant,,ENST00000506704,;	4718	56	74	SUCCESS
TBC1D14	57533	.	GRCh37	4	7026792	7026792	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	31	214	0	ENST00000409757.4:c.1819T>C	p.Phe607Leu	p.F607L	ENST00000409757	NM_020773.2	607	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS3394.2	1819	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGTTCTGT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF203,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000386921	.	13/14	.	.	.	.	.	.	.	.	COSM1228561,COSM1228560	13/14	PASS	ENST00000409757	Transcript	.	.	ENSG00000132405	29246	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.983)	.	deleterious(0.04)	1,1	TBC14_HUMAN	TBC1D14	HGNC	C9JP26_HUMAN,C9J541_HUMAN	.	UPI000020BAB6	SNV	TBC1D14,missense_variant,p.Phe254Leu,ENST00000446947,;TBC1D14,missense_variant,p.Phe607Leu,ENST00000448507,;TBC1D14,missense_variant,p.Phe379Leu,ENST00000410031,;TBC1D14,missense_variant,p.Phe327Leu,ENST00000451522,;TBC1D14,missense_variant,p.Phe607Leu,ENST00000409757,;	1943	215	160	SUCCESS
TMEM175	84286	.	GRCh37	4	944240	944240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	40	152	0	ENST00000264771.4:c.224C>A	p.Ala75Glu	p.A75E	ENST00000264771	NM_032326.2	75	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS3341.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCAACAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31462:SF2,hmmpanther:PTHR31462,Pfam_domain:PF06736	.	.	ENSP00000264771	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000264771	Transcript	.	.	ENSG00000127419	28709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	tolerated(0.2)	.	TM175_HUMAN	TMEM175	HGNC	E7ETE6_HUMAN,D6RIZ2_HUMAN,D6RBE5_HUMAN,D3DVN5_HUMAN	.	UPI000006D921	SNV	TMEM175,missense_variant,p.Ala75Glu,ENST00000514546,;TMEM175,missense_variant,p.Ala62Glu,ENST00000514453,;TMEM175,missense_variant,p.Ala75Glu,ENST00000264771,;TMEM175,missense_variant,p.Ala74Glu,ENST00000507319,;TMEM175,5_prime_UTR_variant,,ENST00000510493,;TMEM175,5_prime_UTR_variant,,ENST00000515492,;TMEM175,5_prime_UTR_variant,,ENST00000515740,;TMEM175,5_prime_UTR_variant,,ENST00000509508,;TMEM175,5_prime_UTR_variant,,ENST00000508204,;TMEM175,non_coding_transcript_exon_variant,,ENST00000504180,;TMEM175,3_prime_UTR_variant,,ENST00000513682,;TMEM175,3_prime_UTR_variant,,ENST00000504744,;TMEM175,3_prime_UTR_variant,,ENST00000513952,;TMEM175,non_coding_transcript_exon_variant,,ENST00000515876,;TMEM175,non_coding_transcript_exon_variant,,ENST00000438836,;TMEM175,non_coding_transcript_exon_variant,,ENST00000452360,;TMEM175,non_coding_transcript_exon_variant,,ENST00000502513,;TMEM175,non_coding_transcript_exon_variant,,ENST00000504505,;TMEM175,upstream_gene_variant,,ENST00000506669,;TMEM175,downstream_gene_variant,,ENST00000505734,;TMEM175,downstream_gene_variant,,ENST00000504850,;	409	152	94	SUCCESS
CTNND2	1501	.	GRCh37	5	10992757	10992757	+	synonymous_variant	Silent	SNP	C	C	A	rs531016201	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	49	132	0	ENST00000304623.8:c.3117G>T	p.Ser1039=	p.S1039=	ENST00000304623	NM_001332.2	1039	tcG/tcT	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS3881.1	3117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGAGGC	NONE	by1000G	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	T:0	.	ENSP00000307134	T:0	19/22	.	.	.	.	.	.	.	.	rs531016201	19/22	PASS	ENST00000304623	Transcript	1	T:0.0002	ENSG00000169862	2516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,synonymous_variant,p.%3D,ENST00000304623,;CTNND2,synonymous_variant,p.%3D,ENST00000359640,;CTNND2,synonymous_variant,p.%3D,ENST00000503622,;CTNND2,synonymous_variant,p.%3D,ENST00000511377,;CTNND2,synonymous_variant,p.%3D,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506324,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,synonymous_variant,p.%3D,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	3307	132	101	SUCCESS
FSTL4	23105	.	GRCh37	5	132534838	132534838	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	74	0	ENST00000265342.7:c.2478G>C	p.Glu826Asp	p.E826D	ENST00000265342	NM_015082.1	826	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS34238.1	2478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACCTCACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF9	.	.	ENSP00000265342	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000265342	Transcript	.	.	ENSG00000053108	21389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	FSTL4_HUMAN	FSTL4	HGNC	.	.	UPI000003AFB0	SNV	FSTL4,missense_variant,p.Glu826Asp,ENST00000265342,;CTB-49A3.2,intron_variant,,ENST00000509051,;FSTL4,downstream_gene_variant,,ENST00000511375,;FSTL4,non_coding_transcript_exon_variant,,ENST00000509525,;	2728	74	56	SUCCESS
PCDHA6	56142	.	GRCh37	5	140209550	140209550	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	111	0	ENST00000529310.1:c.1874G>A	p.Gly625Glu	p.G625E	ENST00000529310	NM_018909.2	625	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS47281.1	1874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGGCTGT	BUFFER|p.P621P|c.1863G>A|3,BUFFER|p.P621P|c.1863G>A|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious_low_confidence(0)	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,missense_variant,p.Gly625Glu,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	1988	111	94	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140347607	140347607	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782399233	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	54	0	ENST00000289269.5:c.1256A>G	p.Tyr419Cys	p.Y419C	ENST00000289269	NM_018899.5	419	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4242.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATACAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,PROSITE_profiles:PS50268	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	rs782399233	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,missense_variant,p.Tyr419Cys,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1788	54	80	SUCCESS
PCDHB7	56129	.	GRCh37	5	140554546	140554546	+	synonymous_variant	Silent	SNP	G	G	A	rs782522165	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	25	168	0	ENST00000231137.3:c.2130G>A	p.Arg710=	p.R710=	ENST00000231137	NM_018940.2	710	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4249.1	2130	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGGCTGTG	NONE	byFrequency	.	hmmpanther:PTHR24028:SF69,hmmpanther:PTHR24028	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	rs782522165	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,synonymous_variant,p.%3D,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	2304	168	144	SUCCESS
GPR151	134391	.	GRCh37	5	145895523	145895523	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs181265546	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	113	0	ENST00000311104.2:c.154G>A	p.Val52Met	p.V52M	ENST00000311104	NM_194251.2	52	Gtg/Atg	0	.	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS34266.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACGAAGC	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF1,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	T:0	.	ENSP00000308733	T:0	1/1	.	.	.	.	.	.	.	.	rs181265546	1/1	PASS	ENST00000311104	Transcript	.	T:0.0006	ENSG00000173250	23624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	T:0.0031	tolerated(0.09)	.	GP151_HUMAN	GPR151	HGNC	.	.	UPI000003BCC7	SNV	GPR151,missense_variant,p.Val52Met,ENST00000311104,;TCERG1,downstream_gene_variant,,ENST00000296702,;TCERG1,downstream_gene_variant,,ENST00000394421,;TCERG1,downstream_gene_variant,,ENST00000511077,;TCERG1,downstream_gene_variant,,ENST00000506524,;	231	113	85	SUCCESS
CLK4	57396	.	GRCh37	5	178040784	178040784	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	58	200	0	ENST00000316308.4:c.603T>A	p.Ala201=	p.A201=	ENST00000316308	NM_020666.2	201	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4437.1	603	RADIA|MUTECT|MUSE	.	GAACGAGCTGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000316948	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,synonymous_variant,p.%3D,ENST00000316308,;CLK4,downstream_gene_variant,,ENST00000522749,;CLK4,3_prime_UTR_variant,,ENST00000522136,;CLK4,3_prime_UTR_variant,,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,downstream_gene_variant,,ENST00000522556,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	772	200	150	SUCCESS
CLK4	57396	.	GRCh37	5	178040789	178040789	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	58	197	0	ENST00000316308.4:c.598G>A	p.Ala200Thr	p.A200T	ENST00000316308	NM_020666.2	200	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4437.1	598	RADIA|MUTECT|MUSE	.	AGCTGCTTCAC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000316948	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.907)	.	deleterious(0.02)	.	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,missense_variant,p.Ala200Thr,ENST00000316308,;CLK4,downstream_gene_variant,,ENST00000522749,;CLK4,3_prime_UTR_variant,,ENST00000522136,;CLK4,3_prime_UTR_variant,,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,downstream_gene_variant,,ENST00000522556,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	767	197	147	SUCCESS
IRX1	79192	.	GRCh37	5	3599577	3599577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	98	198	0	ENST00000302006.3:c.515C>A	p.Thr172Lys	p.T172K	ENST00000302006	NM_024337.3	172	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS34132.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACGCAGG	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF05920,PROSITE_patterns:PS00027,hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,PROSITE_profiles:PS50071	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Thr172Lys,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	567	198	193	SUCCESS
GRM1	2911	.	GRCh37	6	146755325	146755325	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	64	0	ENST00000282753.1:c.2978C>T	p.Ser993Phe	p.S993F	ENST00000282753	NM_001278067.1	993	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS5209.1	2978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTCCCACC	NONE	.	.	.	.	.	ENSP00000354896	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated_low_confidence(0.1)	.	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,missense_variant,p.Ser993Phe,ENST00000282753,;GRM1,missense_variant,p.Ser993Phe,ENST00000361719,;GRM1,3_prime_UTR_variant,,ENST00000392299,;GRM1,3_prime_UTR_variant,,ENST00000507907,;GRM1,3_prime_UTR_variant,,ENST00000355289,;GRM1,3_prime_UTR_variant,,ENST00000492807,;	3448	64	34	SUCCESS
SYNE1	23345	.	GRCh37	6	152583243	152583243	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	43	189	0	ENST00000367255.5:c.18896G>T	p.Trp6299Leu	p.W6299L	ENST00000367255	NM_182961.3	6299	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS5236.2	18896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCATTTC	NONE	.	.	SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	101/146	.	.	.	.	.	.	.	.	.	101/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Trp823Leu,ENST00000356820,;SYNE1,missense_variant,p.Trp6228Leu,ENST00000448038,;SYNE1,missense_variant,p.Trp6299Leu,ENST00000367255,;SYNE1,missense_variant,p.Trp6228Leu,ENST00000423061,;SYNE1,missense_variant,p.Trp5911Leu,ENST00000341594,;SYNE1,missense_variant,p.Trp6299Leu,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000545694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	19498	189	179	SUCCESS
HIST1H3F	0	.	GRCh37	6	26250628	26250628	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	86	163	0	ENST00000446824.2:c.206A>G	p.Gln69Arg	p.Q69R	ENST00000446824	NM_021018.2	69	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4600.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGGAAT	NONE	.	.	hmmpanther:PTHR11426,PROSITE_patterns:PS00959,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000444823	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000446824	Transcript	.	.	ENSG00000256316	4773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious_low_confidence(0.01)	.	H31_HUMAN	HIST1H3F	HGNC	.	.	UPI00000003C7	SNV	HIST1H3F,missense_variant,p.Gln69Arg,ENST00000446824,;HIST1H4G,upstream_gene_variant,,ENST00000244537,;HIST1H2BH,upstream_gene_variant,,ENST00000356350,;	208	163	165	SUCCESS
HSPA1L	3305	.	GRCh37	6	31777908	31777908	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	99	179	0	ENST00000375654.4:c.1842A>G	p.Gln614=	p.Q614=	ENST00000375654	NM_005527.3	614	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS34413.1	1842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTTGGTA	NONE	.	.	Superfamily_domains:SSF100934,Pfam_domain:PF00012,Gene3D:1.20.1270.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,synonymous_variant,p.%3D,ENST00000417199,;HSPA1L,synonymous_variant,p.%3D,ENST00000375654,;LSM2,upstream_gene_variant,,ENST00000375661,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	2032	179	337	SUCCESS
CPNE5	57699	.	GRCh37	6	36712088	36712088	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	34	101	0	ENST00000244751.2:c.1446C>A	p.Pro482=	p.P482=	ENST00000244751	NM_020939.1	482	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4825.1	1446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATGGGGAG	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF07002,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF8,PROSITE_profiles:PS50234	.	.	ENSP00000244751	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000244751	Transcript	.	.	ENSG00000124772	2318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPNE5_HUMAN	CPNE5	HGNC	Q7Z6C8_HUMAN,Q658T3_HUMAN	.	UPI0000127C15	SNV	CPNE5,synonymous_variant,p.%3D,ENST00000244751,;CPNE5,synonymous_variant,p.%3D,ENST00000393189,;CPNE5,non_coding_transcript_exon_variant,,ENST00000459703,;CPNE5,downstream_gene_variant,,ENST00000493411,;	2071	101	66	SUCCESS
DST	667	.	GRCh37	6	56480865	56480865	+	intron_variant	Intron	SNP	C	C	T	rs200851382	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	27	94	0	ENST00000244364.6:c.3319-1583G>A		p.*1107*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47443.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTACGGGAG	NONE	byCluster	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	rs200851382	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	22/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Arg2467His,ENST00000370765,;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000522360,;	.	94	106	SUCCESS
RIMS1	22999	.	GRCh37	6	72968729	72968729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	89	0	ENST00000521978.1:c.2968C>A	p.Pro990Thr	p.P990T	ENST00000521978	NM_014989.5	990	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47449.1	2968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTCCAACC	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.25)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Pro990Thr,ENST00000491071,;RIMS1,missense_variant,p.Pro449Thr,ENST00000517827,;RIMS1,missense_variant,p.Pro383Thr,ENST00000453976,;RIMS1,missense_variant,p.Pro989Thr,ENST00000522291,;RIMS1,missense_variant,p.Pro81Thr,ENST00000522211,;RIMS1,missense_variant,p.Pro989Thr,ENST00000520567,;RIMS1,missense_variant,p.Pro990Thr,ENST00000518273,;RIMS1,missense_variant,p.Pro989Thr,ENST00000517960,;RIMS1,missense_variant,p.Pro564Thr,ENST00000517433,;RIMS1,missense_variant,p.Pro464Thr,ENST00000523963,;RIMS1,missense_variant,p.Pro383Thr,ENST00000425662,;RIMS1,missense_variant,p.Pro990Thr,ENST00000264839,;RIMS1,missense_variant,p.Pro463Thr,ENST00000401910,;RIMS1,missense_variant,p.Pro989Thr,ENST00000348717,;RIMS1,missense_variant,p.Pro215Thr,ENST00000370420,;RIMS1,missense_variant,p.Pro990Thr,ENST00000521978,;RIMS1,5_prime_UTR_variant,,ENST00000538414,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	2968	89	92	SUCCESS
RELN	5649	.	GRCh37	7	103276844	103276844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1439046809	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	168	1	ENST00000428762.1:c.2141G>A	p.Ser714Asn	p.S714N	ENST00000428762	NM_005045.3	714	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS47680.1	2141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCTTTCA	NONE	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	18/65	.	.	.	.	.	.	.	.	.	18/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	tolerated(0.44)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Ser714Asn,ENST00000424685,;RELN,missense_variant,p.Ser714Asn,ENST00000428762,;RELN,missense_variant,p.Ser714Asn,ENST00000343529,;	2301	169	88	SUCCESS
PLXNA4	91584	.	GRCh37	7	131912231	131912231	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs533775501	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	90	0	ENST00000321063.4:c.1861C>T	p.Pro621Ser	p.P621S	ENST00000321063	NM_020911.1	621	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS43646.1	1861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGCACCT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34	.	.	ENSP00000352882	.	7/32	.	.	.	.	.	.	.	.	rs533775501	7/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious(0.02)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Pro621Ser,ENST00000321063,;PLXNA4,missense_variant,p.Pro621Ser,ENST00000359827,;	2824	90	40	SUCCESS
AC004985.12	0	.	GRCh37	7	44005510	44005510	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	145	0	ENST00000418645.1:n.774G>T		p.*258*	ENST00000418645				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAACCAGCC	NONE	.	.	.	.	.	.	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000454572	Transcript	.	.	ENSG00000273432	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP5-1165K10.2	Clone_based_vega_gene	.	.	.	SNV	RP5-1165K10.2,non_coding_transcript_exon_variant,,ENST00000454572,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000427076,;POLR2J4,downstream_gene_variant,,ENST00000422304,;AC004985.12,non_coding_transcript_exon_variant,,ENST00000418645,;	627	145	111	SUCCESS
HGF	3082	.	GRCh37	7	81339555	81339555	+	synonymous_variant	Silent	SNP	G	G	T	rs375872396	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	51	170	0	ENST00000222390.5:c.1449C>A	p.Pro483=	p.P483=	ENST00000222390	NM_000601.4	483	ccC/ccA	0	A:0	.	.	.	.	T	P	protein_coding	YES	CCDS5597.1	1449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACGGGATC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152	.	A:0.0001	ENSP00000222390	.	13/18	.	.	.	.	.	.	.	.	rs375872396	13/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,synonymous_variant,p.%3D,ENST00000457544,;HGF,synonymous_variant,p.%3D,ENST00000222390,;	1676	170	110	SUCCESS
HGF	3082	.	GRCh37	7	81339556	81339556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	52	167	0	ENST00000222390.5:c.1448C>A	p.Pro483His	p.P483H	ENST00000222390	NM_000601.4	483	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS5597.1	1448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACGGGATCT	NONE	.	.	hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152	.	.	ENSP00000222390	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.03)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Pro478His,ENST00000457544,;HGF,missense_variant,p.Pro483His,ENST00000222390,;	1675	167	108	SUCCESS
RP1L1	94137	.	GRCh37	8	10467732	10467732	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	112	0	ENST00000382483.3:c.3876A>T	p.Leu1292Phe	p.L1292F	ENST00000382483	NM_178857.5	1292	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS43708.1	3876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTAACTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	.	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Leu1292Phe,ENST00000382483,;	4100	112	42	SUCCESS
GSDMC	56169	.	GRCh37	8	130777987	130777987	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	91	0	ENST00000276708.4:c.457G>C	p.Asp153His	p.D153H	ENST00000276708	NM_031415.2	153	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6360.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCCCCTC	NONE	.	.	hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17,Pfam_domain:PF04598	.	.	ENSP00000276708	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000276708	Transcript	.	.	ENSG00000147697	7151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	.	tolerated(0.15)	.	GSDMC_HUMAN	GSDMC	HGNC	.	.	UPI0000071445	SNV	GSDMC,missense_variant,p.Asp153His,ENST00000276708,;	1339	91	45	SUCCESS
MYOM2	9172	.	GRCh37	8	2041829	2041829	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759765581	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	117	0	ENST00000262113.4:c.2036A>G	p.Gln679Arg	p.Q679R	ENST00000262113	NM_003970.2	679	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS5957.1	2036	RADIA|VARSCANS	.	AGAGCAGTACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000262113	.	17/37	.	.	.	.	.	.	.	.	rs759765581	17/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.61)	.	tolerated(0.18)	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,missense_variant,p.Gln104Arg,ENST00000523438,;MYOM2,missense_variant,p.Gln679Arg,ENST00000262113,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518803,;MYOM2,downstream_gene_variant,,ENST00000519518,;MYOM2,upstream_gene_variant,,ENST00000519372,;	2177	117	26	SUCCESS
ZFHX4	79776	.	GRCh37	8	77618337	77618337	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	77	0	ENST00000521891.2:c.2014G>A	p.Gly672Ser	p.G672S	ENST00000521891	NM_024721.4	672	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS47878.2	2014	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTGGCTCT	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	COSM324403	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.931)	.	.	1	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Gly672Ser,ENST00000518282,;ZFHX4,missense_variant,p.Gly672Ser,ENST00000455469,;ZFHX4,missense_variant,p.Gly672Ser,ENST00000050961,;ZFHX4,missense_variant,p.Gly672Ser,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	2462	77	42	SUCCESS
FABP5	2171	.	GRCh37	8	82192871	82192871	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	100	0	ENST00000297258.6:c.41T>C	p.Val14Ala	p.V14A	ENST00000297258	NM_001444.2	14	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6228.1	41	RADIA|MUTECT|VARSCANS	.	CCTGGTGGACA	NONE	.	.	hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF58,PROSITE_patterns:PS00214,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178	.	.	ENSP00000297258	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000297258	Transcript	.	.	ENSG00000164687	3560	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	deleterious(0.05)	.	FABP5_HUMAN	FABP5	HGNC	I6L8B7_HUMAN,E7DVW5_HUMAN	.	UPI000004068E	SNV	FABP5,missense_variant,p.Val14Ala,ENST00000297258,;FABP5,upstream_gene_variant,,ENST00000396359,;RP11-363E6.4,upstream_gene_variant,,ENST00000606235,;RP11-363E6.3,non_coding_transcript_exon_variant,,ENST00000517670,;RP11-363E6.3,intron_variant,,ENST00000518880,;FABP5,upstream_gene_variant,,ENST00000486269,;FABP5,upstream_gene_variant,,ENST00000481695,;	274	100	41	SUCCESS
GRIN3A	116443	.	GRCh37	9	104449365	104449365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	66	220	0	ENST00000361820.3:c.817G>T	p.Asp273Tyr	p.D273Y	ENST00000361820	NM_133445.2	273	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6758.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCTTCCT	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	.	.	ENSP00000355155	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.629)	.	tolerated(1)	.	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,missense_variant,p.Asp273Tyr,ENST00000361820,;	1418	220	188	SUCCESS
NIPSNAP3A	25934	.	GRCh37	9	107510025	107510025	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	19	35	0	ENST00000374767.4:c.-49T>A		p.*17*	ENST00000374767	NM_015469.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6760.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGAGTCTCAG	NONE	.	.	.	.	.	ENSP00000363899	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000374767	Transcript	.	.	ENSG00000136783	23619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPS3A_HUMAN	NIPSNAP3A	HGNC	.	.	UPI0000130401	SNV	NIPSNAP3A,5_prime_UTR_variant,,ENST00000374767,;	57	35	26	SUCCESS
ADAMTSL2	9719	.	GRCh37	9	136402628	136402628	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	101	0	ENST00000354484.4:c.192G>A	p.Gly64=	p.G64=	ENST00000354484	NM_001145320.1	64	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6976.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGGGGTGG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF147,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857	.	.	ENSP00000346478	.	3/19	.	.	.	.	.	.	.	.	COSM3655318,COSM3655319	3/19	PASS	ENST00000354484	Transcript	.	.	ENSG00000197859	14631	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ATL2_HUMAN	ADAMTSL2	HGNC	A8MZ67_HUMAN	.	UPI000018CEA2	SNV	ADAMTSL2,synonymous_variant,p.%3D,ENST00000354484,;ADAMTSL2,synonymous_variant,p.%3D,ENST00000393060,;ADAMTSL2,synonymous_variant,p.%3D,ENST00000393061,;	749	101	48	SUCCESS
CBWD1	55871	.	GRCh37	9	175754	175754	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	393	180	468	0	ENST00000356521.4:c.185T>A	p.Ile62Asn	p.I62N	ENST00000356521	NM_018491.3	62	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS6438.1	185	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAATATAG	NONE	.	.	hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF38,Pfam_domain:PF02492,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000348915	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000356521	Transcript	.	.	ENSG00000172785	17134	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CBWD1_HUMAN	CBWD1	HGNC	.	.	UPI000006EFDF	SNV	CBWD1,missense_variant,p.Ile62Asn,ENST00000382447,;CBWD1,missense_variant,p.Ile26Asn,ENST00000382389,;CBWD1,missense_variant,p.Ile26Asn,ENST00000314367,;CBWD1,missense_variant,p.Ile62Asn,ENST00000377400,;CBWD1,missense_variant,p.Ile62Asn,ENST00000382393,;CBWD1,missense_variant,p.Ile26Asn,ENST00000431099,;CBWD1,missense_variant,p.Ile62Asn,ENST00000356521,;CBWD1,missense_variant,p.Ile62Asn,ENST00000377447,;CBWD1,non_coding_transcript_exon_variant,,ENST00000465014,;CBWD1,upstream_gene_variant,,ENST00000498044,;CBWD1,upstream_gene_variant,,ENST00000483817,;	274	469	574	SUCCESS
VPS13A	23230	.	GRCh37	9	79824389	79824389	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	102	261	0	ENST00000360280.3:c.436C>T	p.Gln146Ter	p.Q146*	ENST00000360280	NM_033305.2	146	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6655.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACACAGATC	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	6/72	.	.	.	.	.	.	.	.	.	6/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,stop_gained,p.Gln146Ter,ENST00000357409,;VPS13A,stop_gained,p.Gln146Ter,ENST00000376634,;VPS13A,stop_gained,p.Gln146Ter,ENST00000376636,;VPS13A,stop_gained,p.Gln146Ter,ENST00000360280,;VPS13A,upstream_gene_variant,,ENST00000471439,;	696	261	194	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	105011223	105011223	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	100	206	0	ENST00000372582.1:c.1630T>C	p.Leu544=	p.L544=	ENST00000372582	NM_017416.1	544	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS14517.1	1630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAATTAAAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537	.	.	ENSP00000361663	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,synonymous_variant,p.%3D,ENST00000344799,;IL1RAPL2,synonymous_variant,p.%3D,ENST00000372582,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;	2386	206	197	SUCCESS
CUL4B	8450	.	GRCh37	X	119669737	119669737	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	358	107	470	0	ENST00000404115.3:c.2162T>G	p.Leu721Arg	p.L721R	ENST00000404115	NM_003588.3	721	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS35379.1	2162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAAGTTTC	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF66,Gene3D:1ldjA05,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000384109	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000404115	Transcript	.	.	ENSG00000158290	2555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CUL4B_HUMAN	CUL4B	HGNC	.	.	UPI0000246E48	SNV	CUL4B,missense_variant,p.Leu708Arg,ENST00000336592,;CUL4B,missense_variant,p.Leu703Arg,ENST00000371322,;CUL4B,missense_variant,p.Leu721Arg,ENST00000404115,;CUL4B,non_coding_transcript_exon_variant,,ENST00000497616,;	2564	470	465	SUCCESS
IDH3G	3421	.	GRCh37	X	153055245	153055245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	55	0	ENST00000217901.5:c.268C>T	p.His90Tyr	p.H90Y	ENST00000217901	NM_004135.3	90	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS14730.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTGCACCT	NONE	.	.	hmmpanther:PTHR11835:SF42,hmmpanther:PTHR11835,TIGRFAM_domain:TIGR00175,Pfam_domain:PF00180,Gene3D:3.40.718.10,Superfamily_domains:SSF53659	.	.	ENSP00000217901	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000217901	Transcript	.	.	ENSG00000067829	5386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.74)	.	IDH3G_HUMAN	IDH3G	HGNC	Q2Q9S4_HUMAN,E7EQB8_HUMAN,D3DWV9_HUMAN	.	UPI0000000DBC	SNV	IDH3G,start_lost,p.His1?,ENST00000444338,;IDH3G,missense_variant,p.His67Tyr,ENST00000444450,;IDH3G,missense_variant,p.His32Tyr,ENST00000427365,;IDH3G,missense_variant,p.His90Tyr,ENST00000370093,;IDH3G,missense_variant,p.His90Tyr,ENST00000217901,;IDH3G,missense_variant,p.His90Tyr,ENST00000370092,;SSR4,upstream_gene_variant,,ENST00000370085,;SRPK3,downstream_gene_variant,,ENST00000370108,;IDH3G,upstream_gene_variant,,ENST00000454076,;SRPK3,downstream_gene_variant,,ENST00000370100,;SRPK3,downstream_gene_variant,,ENST00000489426,;SSR4,upstream_gene_variant,,ENST00000320857,;SRPK3,downstream_gene_variant,,ENST00000393786,;SSR4,upstream_gene_variant,,ENST00000370087,;SRPK3,downstream_gene_variant,,ENST00000458681,;SSR4,upstream_gene_variant,,ENST00000370086,;SRPK3,downstream_gene_variant,,ENST00000370104,;SRPK3,downstream_gene_variant,,ENST00000370101,;IDH3G,non_coding_transcript_exon_variant,,ENST00000497043,;IDH3G,non_coding_transcript_exon_variant,,ENST00000495356,;IDH3G,non_coding_transcript_exon_variant,,ENST00000461215,;SSR4,upstream_gene_variant,,ENST00000471724,;SSR4,upstream_gene_variant,,ENST00000471880,;SSR4,upstream_gene_variant,,ENST00000491833,;IDH3G,downstream_gene_variant,,ENST00000491235,;SSR4,upstream_gene_variant,,ENST00000482902,;SSR4,upstream_gene_variant,,ENST00000460616,;	465	55	33	SUCCESS
HMX2	3167	.	GRCh37	10	124909334	124909334	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1474415838	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	55	0	ENST00000339992.3:c.517T>C	p.Tyr173His	p.Y173H	ENST00000339992	NM_005519.1	173	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS31305.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCTACCTG	NONE	.	.	Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR24325:SF18,hmmpanther:PTHR24325,PROSITE_profiles:PS50071	.	.	ENSP00000341108	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339992	Transcript	.	.	ENSG00000188816	5018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HMX2_HUMAN	HMX2	HGNC	.	.	UPI0000251E4F	SNV	HMX2,missense_variant,p.Tyr173His,ENST00000339992,;BUB3,upstream_gene_variant,,ENST00000538238,;BUB3,upstream_gene_variant,,ENST00000368865,;BUB3,upstream_gene_variant,,ENST00000368859,;BUB3,upstream_gene_variant,,ENST00000368858,;	774	56	71	SUCCESS
CCDC3	83643	.	GRCh37	10	13040436	13040436	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	79	0	ENST00000378825.3:c.451A>G	p.Arg151Gly	p.R151G	ENST00000378825	NM_031455.3	151	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS7093.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGTTCT	NONE	.	.	hmmpanther:PTHR31663,hmmpanther:PTHR31663:SF4	.	.	ENSP00000368102	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000378825	Transcript	.	.	ENSG00000151468	23813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	deleterious(0)	.	CCDC3_HUMAN	CCDC3	HGNC	Q5VYV9_HUMAN	.	UPI000006E69C	SNV	CCDC3,missense_variant,p.Arg26Gly,ENST00000378839,;CCDC3,missense_variant,p.Arg151Gly,ENST00000378825,;	578	79	88	SUCCESS
INPP5A	3632	.	GRCh37	10	134523851	134523851	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	50	82	0	ENST00000368594.3:c.539del	p.Leu180TrpfsTer2	p.L180Wfs*2	ENST00000368594	NM_005539.3	180	Ttg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS7669.2	538	VARSCANI*|PINDEL	.	TTTGACTTGGTG	NONE	.	.	Superfamily_domains:SSF56219,SMART_domains:SM00128,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12997,hmmpanther:PTHR12997:SF7	.	.	ENSP00000357583	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000368594	Transcript	.	.	ENSG00000068383	6076	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I5P1_HUMAN	INPP5A	HGNC	Q4VAR4_HUMAN,Q149S6_HUMAN	.	UPI000012D085	deletion	INPP5A,frameshift_variant,p.Leu152TrpfsTer2,ENST00000342652,;INPP5A,frameshift_variant,p.Leu103TrpfsTer2,ENST00000423490,;INPP5A,frameshift_variant,p.Leu180TrpfsTer2,ENST00000368593,;INPP5A,frameshift_variant,p.Leu180TrpfsTer2,ENST00000368594,;INPP5A,non_coding_transcript_exon_variant,,ENST00000487614,;INPP5A,upstream_gene_variant,,ENST00000498337,;	815	82	170	SUCCESS
HSPB2	3316	.	GRCh37	11	111784335	111784335	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	70	0	ENST00000304298.3:c.265A>G	p.Thr89Ala	p.T89A	ENST00000304298	NM_001541.3	89	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8352.1	265	MUTECT|MUSE	.	AGGTGACTGTG	NONE	.	.	PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF30,Pfam_domain:PF00011,Gene3D:2.60.40.790,PIRSF_domain:PIRSF036514,Superfamily_domains:SSF49764	.	.	ENSP00000302476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304298	Transcript	.	.	ENSG00000170276	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	tolerated(0.26)	.	HSPB2_HUMAN	HSPB2	Uniprot_gn	A8KAH6_HUMAN	.	UPI000000D8EF	SNV	HSPB2,missense_variant,p.Thr89Ala,ENST00000537382,;HSPB2,missense_variant,p.Thr89Ala,ENST00000304298,;CRYAB,5_prime_UTR_variant,,ENST00000533475,;CRYAB,intron_variant,,ENST00000527950,;CRYAB,upstream_gene_variant,,ENST00000533879,;CRYAB,upstream_gene_variant,,ENST00000227251,;CRYAB,upstream_gene_variant,,ENST00000533971,;CRYAB,upstream_gene_variant,,ENST00000527899,;CRYAB,upstream_gene_variant,,ENST00000526180,;CRYAB,upstream_gene_variant,,ENST00000528961,;CRYAB,upstream_gene_variant,,ENST00000525823,;CRYAB,upstream_gene_variant,,ENST00000529647,;CRYAB,upstream_gene_variant,,ENST00000526167,;CRYAB,upstream_gene_variant,,ENST00000528628,;C11orf52,upstream_gene_variant,,ENST00000529342,;CRYAB,upstream_gene_variant,,ENST00000533280,;CRYAB,upstream_gene_variant,,ENST00000524660,;CRYAB,upstream_gene_variant,,ENST00000531198,;HSPB2-C11orf52,missense_variant,p.Thr89Ala,ENST00000527616,;HSPB2-C11orf52,intron_variant,,ENST00000534100,;	853	70	45	SUCCESS
STT3A	3703	.	GRCh37	11	125474114	125474114	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	64	132	0	ENST00000392708.4:c.480A>T	p.Arg160=	p.R160=	ENST00000392708	NM_001278503.1	160	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8458.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGATCTGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13872:SF21,hmmpanther:PTHR13872,Pfam_domain:PF02516	.	.	ENSP00000376472	.	6/18	.	.	.	.	.	.	.	.	COSM924540	6/18	PASS	ENST00000392708	Transcript	.	.	ENSG00000134910	6172	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	STT3A_HUMAN	STT3A	HGNC	E9PNQ1_HUMAN,E9PN73_HUMAN,E9PIJ8_HUMAN,E9PI32_HUMAN	.	UPI0000071627	SNV	STT3A,synonymous_variant,p.%3D,ENST00000392708,;STT3A,synonymous_variant,p.%3D,ENST00000529196,;STT3A,synonymous_variant,p.%3D,ENST00000531491,;STT3A,downstream_gene_variant,,ENST00000527606,;STT3A,downstream_gene_variant,,ENST00000525652,;STT3A,downstream_gene_variant,,ENST00000529886,;STT3A,upstream_gene_variant,,ENST00000526726,;STT3A,non_coding_transcript_exon_variant,,ENST00000527456,;STT3A,upstream_gene_variant,,ENST00000531001,;STT3A,non_coding_transcript_exon_variant,,ENST00000534472,;STT3A,non_coding_transcript_exon_variant,,ENST00000526213,;STT3A,upstream_gene_variant,,ENST00000525431,;	639	132	85	SUCCESS
HIPK3	10114	.	GRCh37	11	33308924	33308924	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	37	102	0	ENST00000303296.4:c.964G>T	p.Asp322Tyr	p.D322Y	ENST00000303296	NM_005734.4	322	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS7884.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGATCTC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS00108,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000304226	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Asp322Tyr,ENST00000525975,;HIPK3,missense_variant,p.Asp322Tyr,ENST00000456517,;HIPK3,missense_variant,p.Asp322Tyr,ENST00000379016,;HIPK3,missense_variant,p.Asp322Tyr,ENST00000303296,;HIPK3,downstream_gene_variant,,ENST00000531504,;	1269	102	86	SUCCESS
OR5L1	219437	.	GRCh37	11	55579735	55579735	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1430699573	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	56	0	ENST00000333973.2:c.793G>T	p.Gly265Cys	p.G265C	ENST00000333973	NM_001004738.1	265	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS31509.1	793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAGGCAAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Gly265Cys,ENST00000333973,;	882	57	73	SUCCESS
OR5L1	219437	.	GRCh37	11	55579736	55579736	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1590593876	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	58	0	ENST00000333973.2:c.794G>T	p.Gly265Val	p.G265V	ENST00000333973	NM_001004738.1	265	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31509.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGCAATA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	deleterious(0.03)	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Gly265Val,ENST00000333973,;	883	58	73	SUCCESS
GSTP1	2950	.	GRCh37	11	67352159	67352159	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	43	83	0	ENST00000398606.3:c.148T>C	p.Tyr50His	p.Y50H	ENST00000398606	NM_000852.3	50	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS41679.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTATACGGG	NONE	.	.	PROSITE_profiles:PS50404,hmmpanther:PTHR11571:SF96,hmmpanther:PTHR11571,Gene3D:3.40.30.10,Pfam_domain:PF02798,Superfamily_domains:SSF52833,Prints_domain:PR01268	.	.	ENSP00000381607	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000398606	Transcript	.	.	ENSG00000084207	4638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	GSTP1_HUMAN	GSTP1	HGNC	C7DJS1_HUMAN,B2C310_HUMAN	.	UPI000011028B	SNV	GSTP1,missense_variant,p.Tyr50His,ENST00000398603,;GSTP1,missense_variant,p.Tyr50His,ENST00000398606,;GSTP1,non_coding_transcript_exon_variant,,ENST00000476137,;GSTP1,non_coding_transcript_exon_variant,,ENST00000498765,;GSTP1,non_coding_transcript_exon_variant,,ENST00000464930,;GSTP1,upstream_gene_variant,,ENST00000495996,;GSTP1,non_coding_transcript_exon_variant,,ENST00000494593,;GSTP1,non_coding_transcript_exon_variant,,ENST00000489040,;GSTP1,upstream_gene_variant,,ENST00000467591,;	397	83	103	SUCCESS
KRTAP5-10	387273	.	GRCh37	11	71277087	71277087	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs765308663	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	41	124	0	ENST00000398531.1:c.454T>G	p.Ser152Ala	p.S152A	ENST00000398531	NM_001012710.1	152	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS41684.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCAGGC	BUFFER|p.C150C|c.450C>T|3,BUFFER|p.C102C|c.306C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF47	.	.	ENSP00000381542	.	1/1	.	.	.	.	.	.	.	.	rs765308663	1/1	PASS	ENST00000398531	Transcript	.	.	ENSG00000204572	23605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KR510_HUMAN	KRTAP5-10	HGNC	.	.	UPI0000376062	SNV	KRTAP5-10,missense_variant,p.Ser104Ala,ENST00000376536,;KRTAP5-10,missense_variant,p.Ser152Ala,ENST00000398531,;AP000867.14,upstream_gene_variant,,ENST00000511464,;	479	124	117	SUCCESS
WEE1	7465	.	GRCh37	11	9597791	9597791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	46	0	ENST00000450114.2:c.797A>G	p.Asp266Gly	p.D266G	ENST00000450114	NM_003390.3	266	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS7800.1	797	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGACATGG	NONE	.	.	hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,PIRSF_domain:PIRSF037281	.	.	ENSP00000402084	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000450114	Transcript	.	.	ENSG00000166483	12761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.108)	.	tolerated(0.14)	.	WEE1_HUMAN	WEE1	HGNC	E9PRU3_HUMAN	.	UPI0000138EF4	SNV	WEE1,missense_variant,p.Asp52Gly,ENST00000299613,;WEE1,missense_variant,p.Asp266Gly,ENST00000450114,;WEE1,upstream_gene_variant,,ENST00000524612,;WEE1,upstream_gene_variant,,ENST00000530712,;snoU13,upstream_gene_variant,,ENST00000458785,;RN7SL56P,upstream_gene_variant,,ENST00000470034,;WEE1,non_coding_transcript_exon_variant,,ENST00000524549,;	1050	46	45	SUCCESS
AP2A2	161	.	GRCh37	11	992671	992671	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	113	0	ENST00000448903.2:c.1438A>T	p.Lys480Ter	p.K480*	ENST00000448903	NM_012305.3	480	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS44512.1	1438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCAAGACT	NONE	.	.	hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371	.	.	ENSP00000413234	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000448903	Transcript	.	.	ENSG00000183020	562	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2A2_HUMAN	AP2A2	HGNC	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN	.	UPI0000124FF5	SNV	AP2A2,stop_gained,p.Lys481Ter,ENST00000332231,;AP2A2,stop_gained,p.Lys480Ter,ENST00000448903,;AP2A2,intron_variant,,ENST00000534328,;AP2A2,intron_variant,,ENST00000528195,;AP2A2,upstream_gene_variant,,ENST00000525891,;AP2A2,stop_gained,p.Lys481Ter,ENST00000528815,;AP2A2,downstream_gene_variant,,ENST00000524952,;	1579	113	140	SUCCESS
MAGOHB	55110	.	GRCh37	12	10766119	10766119	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	30	0	ENST00000320756.2:c.13A>G	p.Ser5Gly	p.S5G	ENST00000320756	NM_018048.3	5	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS8628.1	13	MUTECT|MUSE	.	ATCGCTAGCCA	NONE	.	.	hmmpanther:PTHR12638,Gene3D:1oo0A00,Superfamily_domains:SSF89817	.	.	ENSP00000319240	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000320756	Transcript	.	.	ENSG00000111196	25504	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.12)	.	MGN2_HUMAN	MAGOHB	HGNC	F5H6P7_HUMAN	.	UPI00000719E5	SNV	MAGOHB,missense_variant,p.Ser5Gly,ENST00000320756,;MAGOHB,missense_variant,p.Ser5Gly,ENST00000381881,;MAGOHB,intron_variant,,ENST00000539554,;MAGOHB,missense_variant,p.Ser5Gly,ENST00000545236,;MAGOHB,missense_variant,p.Ser5Gly,ENST00000543929,;MAGOHB,missense_variant,p.Ser5Gly,ENST00000544850,;MAGOHB,missense_variant,p.Ser5Gly,ENST00000546173,;MAGOHB,non_coding_transcript_exon_variant,,ENST00000544176,;MAGOHB,non_coding_transcript_exon_variant,,ENST00000537852,;MAGOHB,intron_variant,,ENST00000540074,;	104	30	55	SUCCESS
KSR2	283455	.	GRCh37	12	117922348	117922348	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	55	75	0	ENST00000339824.5:c.2323G>C	p.Gly775Arg	p.G775R	ENST00000339824		775	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	.	2323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCCCATGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF376,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000339952	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,missense_variant,p.Gly746Arg,ENST00000425217,;KSR2,missense_variant,p.Gly775Arg,ENST00000339824,;KSR2,3_prime_UTR_variant,,ENST00000302438,;	3051	75	110	SUCCESS
HPD	3242	.	GRCh37	12	122296730	122296730	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	45	0	ENST00000289004.4:c.-1C>T		p.*1*	ENST00000289004	NM_002150.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9224.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATGATTGA	NONE	.	.	.	.	.	ENSP00000289004	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000289004	Transcript	.	.	ENSG00000158104	5147	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HPD	HGNC	.	.	UPI0000366920	SNV	HPD,5_prime_UTR_variant,,ENST00000289004,;HPD,intron_variant,,ENST00000543163,;RP11-7M8.2,downstream_gene_variant,,ENST00000543848,;HPD,non_coding_transcript_exon_variant,,ENST00000535114,;HPD,upstream_gene_variant,,ENST00000542159,;	36	46	89	SUCCESS
TCTN2	79867	.	GRCh37	12	124158356	124158356	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	rs111689585	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	106	131	0	ENST00000303372.5:c.462A>T		p.X154_splice	ENST00000303372	NM_024809.4	154	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9253.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGGCAA	NONE	.	.	hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF3	.	.	ENSP00000304941	.	4/18	.	.	.	.	.	.	.	.	rs111689585	4/18	PASS	ENST00000303372	Transcript	.	.	ENSG00000168778	25774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TECT2_HUMAN	TCTN2	HGNC	.	.	UPI0000038A56	SNV	TCTN2,synonymous_variant,p.%3D,ENST00000303372,;TCTN2,synonymous_variant,p.%3D,ENST00000426174,;TCTN2,downstream_gene_variant,,ENST00000541523,;	590	131	196	SUCCESS
DHX37	57647	.	GRCh37	12	125451369	125451369	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	62	139	0	ENST00000308736.2:c.1560A>T	p.Ser520=	p.S520=	ENST00000308736	NM_032656.3	520	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9261.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTTGACTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99	.	.	ENSP00000311135	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,synonymous_variant,p.%3D,ENST00000308736,;DHX37,synonymous_variant,p.%3D,ENST00000544745,;DHX37,5_prime_UTR_variant,,ENST00000543962,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	1659	139	154	SUCCESS
GUCY2C	2984	.	GRCh37	12	14840921	14840921	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	22	49	0	ENST00000261170.3:c.294C>A	p.Ser98Arg	p.S98R	ENST00000261170	NM_004963.3	98	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS8664.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGCTACT	NONE	.	.	hmmpanther:PTHR11920:SF41,hmmpanther:PTHR11920,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000261170	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000261170	Transcript	.	.	ENSG00000070019	4688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	GUC2C_HUMAN	GUCY2C	HGNC	.	.	UPI000013D135	SNV	GUCY2C,missense_variant,p.Ser98Arg,ENST00000261170,;RP11-174G6.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,;	431	49	30	SUCCESS
TM7SF3	51768	.	GRCh37	12	27128524	27128524	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	63	111	0	ENST00000343028.4:c.1355C>T	p.Ser452Phe	p.S452F	ENST00000343028	NM_016551.2	452	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS8710.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGGACCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15937,Pfam_domain:PF13886	.	.	ENSP00000342322	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000343028	Transcript	.	.	ENSG00000064115	23049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.1)	.	TM7S3_HUMAN	TM7SF3	HGNC	F5H587_HUMAN,F5H3K5_HUMAN,F5GXE1_HUMAN,F5GWC3_HUMAN	.	UPI0000136849	SNV	TM7SF3,missense_variant,p.Ser70Phe,ENST00000537406,;TM7SF3,missense_variant,p.Ser166Phe,ENST00000545344,;TM7SF3,missense_variant,p.Ser452Phe,ENST00000343028,;TM7SF3,3_prime_UTR_variant,,ENST00000545303,;TM7SF3,downstream_gene_variant,,ENST00000543655,;TM7SF3,downstream_gene_variant,,ENST00000535819,;RP11-421F16.3,intron_variant,,ENST00000500632,;TM7SF3,downstream_gene_variant,,ENST00000542667,;TM7SF3,3_prime_UTR_variant,,ENST00000535260,;TM7SF3,non_coding_transcript_exon_variant,,ENST00000544179,;TM7SF3,downstream_gene_variant,,ENST00000541081,;TM7SF3,downstream_gene_variant,,ENST00000543882,;	1581	111	88	SUCCESS
OTOGL	283310	.	GRCh37	12	80714407	80714407	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	48	66	0	ENST00000547103.1:c.3981A>T	p.Thr1327=	p.T1327=	ENST00000547103		1327	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	.	3981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGATTC	NONE	.	.	Superfamily_domains:0050434,Gene3D:2.80.10.50,Pfam_domain:PF05270,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	33/58	.	.	.	.	.	.	.	.	.	33/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,synonymous_variant,p.%3D,ENST00000458043,;OTOGL,synonymous_variant,p.%3D,ENST00000547103,;	3987	66	79	SUCCESS
CCDC122	160857	.	GRCh37	13	44433973	44433973	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	30	57	0	ENST00000444614.3:c.390A>G	p.Ala130=	p.A130=	ENST00000444614	NM_144974.3	130	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9390.2	390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTTGCATA	NONE	.	.	hmmpanther:PTHR18937:SF165,hmmpanther:PTHR18937	.	.	ENSP00000407763	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000444614	Transcript	.	.	ENSG00000151773	26478	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC122_HUMAN	CCDC122	HGNC	.	.	UPI0000470101	SNV	CCDC122,synonymous_variant,p.%3D,ENST00000444614,;CCDC122,synonymous_variant,p.%3D,ENST00000281508,;CCDC122,non_coding_transcript_exon_variant,,ENST00000470137,;CCDC122,non_coding_transcript_exon_variant,,ENST00000476570,;	649	57	44	SUCCESS
PCDH9	5101	.	GRCh37	13	66879031	66879031	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	47	85	0	ENST00000377865.2:c.3470C>T	p.Pro1157Leu	p.P1157L	ENST00000377865		1157	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9444.1	3470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAGGAGAT	NONE	.	.	hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027	.	.	ENSP00000442186	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	.	deleterious(0.01)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Pro1123Leu,ENST00000328454,;PCDH9,missense_variant,p.Pro1157Leu,ENST00000544246,;PCDH9,missense_variant,p.Pro1157Leu,ENST00000377865,;PCDH9,missense_variant,p.Pro1123Leu,ENST00000456367,;PCDH9-AS1,intron_variant,,ENST00000430861,;	4162	86	81	SUCCESS
SLITRK6	84189	.	GRCh37	13	86369191	86369191	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	51	57	0	ENST00000400286.2:c.1453del	p.Thr485LeufsTer3	p.T485Lfs*3	ENST00000400286	NM_032229.2	485	Act/ct	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS41903.1	1453	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTAGTTAGAG	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373,PROSITE_profiles:PS51450	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	deletion	SLITRK6,frameshift_variant,p.Thr485LeufsTer3,ENST00000400286,;	2052	57	106	SUCCESS
IGHV4-31	28396	.	GRCh37	14	106805416	106805416	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1594181732	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	12	197	0	ENST00000438142.2:c.147C>A	p.Ser49Arg	p.S49R	ENST00000438142		49	agC/agA	0	A:0.0003	A:0.0053	.	A:0.0014	.	T	S/R	IG_V_gene	YES	.	147	MUTECT|MUSE|VARSCANS	.	CCACTGCTGAT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	A:0	A:0	ENSP00000395656	A:0	2/2	.	.	.	.	.	.	.	.	rs369170236	2/2	PASS	ENST00000438142	Transcript	.	A:0.0016	ENSG00000231475	5649	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.028)	A:0	deleterious_low_confidence(0.03)	.	.	IGHV4-31	HGNC	.	.	UPI000011AAD2	SNV	IGHV4-31,missense_variant,p.Ser49Arg,ENST00000438142,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;	219	198	142	SUCCESS
SLC39A2	29986	.	GRCh37	14	21467501	21467501	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	24	0	ENST00000298681.4:c.-105A>G		p.*35*	ENST00000298681	NM_014579.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9563.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACTCACGAGA	NONE	.	.	.	.	.	ENSP00000298681	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000298681	Transcript	.	.	ENSG00000165794	17127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S39A2_HUMAN	SLC39A2	HGNC	.	.	UPI000013E502	SNV	SLC39A2,5_prime_UTR_variant,,ENST00000298681,;SLC39A2,5_prime_UTR_variant,,ENST00000554422,;METTL17,downstream_gene_variant,,ENST00000555670,;METTL17,downstream_gene_variant,,ENST00000339374,;METTL17,downstream_gene_variant,,ENST00000556670,;METTL17,downstream_gene_variant,,ENST00000556733,;METTL17,downstream_gene_variant,,ENST00000382985,;RP11-84C10.4,upstream_gene_variant,,ENST00000557335,;METTL17,downstream_gene_variant,,ENST00000554354,;SLC39A2,non_coding_transcript_exon_variant,,ENST00000554128,;METTL17,downstream_gene_variant,,ENST00000553389,;METTL17,downstream_gene_variant,,ENST00000555533,;METTL17,downstream_gene_variant,,ENST00000555902,;METTL17,downstream_gene_variant,,ENST00000557550,;METTL17,downstream_gene_variant,,ENST00000555640,;METTL17,downstream_gene_variant,,ENST00000554849,;	53	24	16	SUCCESS
CLEC14A	161198	.	GRCh37	14	38725216	38725216	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	43	37	0	ENST00000342213.2:c.12G>T	p.Ala4=	p.A4=	ENST00000342213	NM_175060.2	4	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9667.1	12	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAACGCCGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838	.	.	ENSP00000353013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342213	Transcript	.	.	ENSG00000176435	19832	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLC14_HUMAN	CLEC14A	HGNC	.	.	UPI000000CBD4	SNV	CLEC14A,synonymous_variant,p.%3D,ENST00000342213,;	359	37	78	SUCCESS
FANCM	57697	.	GRCh37	14	45623916	45623916	+	synonymous_variant	Silent	SNP	A	A	G	rs905295349	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	62	0	ENST00000267430.5:c.1200A>G	p.Lys400=	p.K400=	ENST00000267430	NM_020937.2	400	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS32070.1	1200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAAAATGA	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20,Gene3D:1wp9B03	.	.	ENSP00000267430	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,synonymous_variant,p.%3D,ENST00000556036,;FANCM,synonymous_variant,p.%3D,ENST00000542564,;FANCM,synonymous_variant,p.%3D,ENST00000267430,;FANCM,upstream_gene_variant,,ENST00000556250,;	1285	62	69	SUCCESS
PSMA3	5684	.	GRCh37	14	58711598	58711598	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	31	66	0	ENST00000216455.4:c.-41C>T		p.*14*	ENST00000216455	NM_152132.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9731.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCCGGGC	NONE	.	.	.	.	.	ENSP00000216455	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000216455	Transcript	.	.	ENSG00000100567	9532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSA3_HUMAN	PSMA3	HGNC	G3V4X5_HUMAN	.	UPI000000D961	SNV	PSMA3,5_prime_UTR_variant,,ENST00000412908,;PSMA3,5_prime_UTR_variant,,ENST00000216455,;PSMA3,upstream_gene_variant,,ENST00000557508,;PSMA3,non_coding_transcript_exon_variant,,ENST00000554456,;C14orf37,intron_variant,,ENST00000554218,;PSMA3,5_prime_UTR_variant,,ENST00000557087,;PSMA3,5_prime_UTR_variant,,ENST00000555931,;PSMA3,non_coding_transcript_exon_variant,,ENST00000553665,;PSMA3,non_coding_transcript_exon_variant,,ENST00000555743,;PSMA3,non_coding_transcript_exon_variant,,ENST00000554812,;PSMA3,upstream_gene_variant,,ENST00000556321,;	50	66	49	SUCCESS
TRPM1	4308	.	GRCh37	15	31355371	31355371	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	56	0	ENST00000397795.2:c.849A>G	p.Gly283=	p.G283=	ENST00000397795	NM_002420.5	283	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS58347.1	966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTCCGCT	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,synonymous_variant,p.%3D,ENST00000558445,;TRPM1,synonymous_variant,p.%3D,ENST00000542188,;TRPM1,synonymous_variant,p.%3D,ENST00000558768,;TRPM1,synonymous_variant,p.%3D,ENST00000256552,;TRPM1,synonymous_variant,p.%3D,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;MIR211,downstream_gene_variant,,ENST00000384969,;TRPM1,synonymous_variant,p.%3D,ENST00000560801,;TRPM1,synonymous_variant,p.%3D,ENST00000560658,;TRPM1,upstream_gene_variant,,ENST00000558070,;	1280	56	80	SUCCESS
AQR	9716	.	GRCh37	15	35222481	35222481	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	27	0	ENST00000156471.5:c.992A>T	p.Tyr331Phe	p.Y331F	ENST00000156471	NM_014691.2	331	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS42013.1	992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCATAGTGA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901	.	.	ENSP00000156471	.	12/35	.	.	.	.	.	.	.	.	.	12/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	deleterious(0)	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,missense_variant,p.Tyr331Phe,ENST00000156471,;AQR,missense_variant,p.Tyr331Phe,ENST00000543879,;	1218	27	32	SUCCESS
DAPK2	23604	.	GRCh37	15	64275877	64275877	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773075712	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	34	0	ENST00000261891.3:c.169C>T	p.Arg57Trp	p.R57W	ENST00000261891		57	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10188.1	169	MUTECT|MUSE|VARSCANS	.	CTGCCGCTTCT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22964,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000261891	.	2/11	.	.	.	.	.	.	.	.	rs773075712	2/11	PASS	ENST00000261891	Transcript	.	.	ENSG00000035664	2675	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DAPK2_HUMAN	DAPK2	HGNC	H0YKW8_HUMAN	.	UPI000006DFD1	SNV	DAPK2,missense_variant,p.Arg57Trp,ENST00000559306,;DAPK2,missense_variant,p.Arg57Trp,ENST00000457488,;DAPK2,missense_variant,p.Arg57Trp,ENST00000558069,;DAPK2,missense_variant,p.Arg57Trp,ENST00000261891,;DAPK2,non_coding_transcript_exon_variant,,ENST00000558482,;DAPK2,non_coding_transcript_exon_variant,,ENST00000559897,;DAPK2,missense_variant,p.Arg57Trp,ENST00000559007,;DAPK2,3_prime_UTR_variant,,ENST00000561162,;	175	34	92	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79587136	79587136	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	34	48	0	ENST00000421388.2:c.1510A>T	p.Arg504Ter	p.R504*	ENST00000421388	NM_001146341.1	504	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS53965.1	1510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGAGAGTT	NONE	.	.	hmmpanther:PTHR24157,hmmpanther:PTHR24157:SF2	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,stop_gained,p.Arg504Ter,ENST00000421388,;ANKRD34C,stop_gained,p.Arg504Ter,ENST00000558647,;	1979	49	57	SUCCESS
PKD1P6	353511	.	GRCh37	16	15223917	15223917	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	68	0	ENST00000343738.6:n.3690A>G		p.*1230*	ENST00000343738				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTTACATC	NONE	.	.	.	.	.	.	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000605794	Transcript	.	.	ENSG00000270580	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-1186N24.5	Clone_based_vega_gene	.	.	.	SNV	PDXDC1,intron_variant,,ENST00000535621,;RP11-1186N24.5,non_coding_transcript_exon_variant,,ENST00000605794,;PKD1P6,non_coding_transcript_exon_variant,,ENST00000424133,;PKD1P6,downstream_gene_variant,,ENST00000540075,;PKD1P6,downstream_gene_variant,,ENST00000540502,;RP11-1186N24.5,upstream_gene_variant,,ENST00000340301,;PKD1P6,downstream_gene_variant,,ENST00000546358,;PKD1P6,non_coding_transcript_exon_variant,,ENST00000343738,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000448014,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000358815,;	943	68	89	SUCCESS
TSC2	7249	.	GRCh37	16	2136835	2136854	+	frameshift_variant	Frame_Shift_Del	DEL	ATGACTCCGGTGAGGACTTC	ATGACTCCGGTGAGGACTTC	-	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	ATGACTCCGGTGAGGACTTC	ATGACTCCGGTGAGGACTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	46	0	ENST00000219476.3:c.4953_4972del	p.Asn1651LysfsTer48	p.N1651Kfs*48	ENST00000219476	NM_000548.3	1651	aATGACTCCGGTGAGGACTTC/a	0	.	.	.	.	.	-	NDSGEDF/X	protein_coding	YES	CCDS10458.1	4952-4971	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTACAATGACTCCGGTGAGGACTTCAAGCT	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000219476	.	38/42	.	.	.	.	.	.	.	.	.	38/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,frameshift_variant,p.Asn1548LysfsTer48,ENST00000439673,;TSC2,frameshift_variant,p.Asn1651LysfsTer48,ENST00000219476,;TSC2,frameshift_variant,p.Asn1595LysfsTer48,ENST00000568454,;TSC2,frameshift_variant,p.Asn379LysfsTer48,ENST00000569110,;TSC2,frameshift_variant,p.Asn1584LysfsTer48,ENST00000401874,;TSC2,frameshift_variant,p.Asn1608LysfsTer48,ENST00000353929,;TSC2,frameshift_variant,p.Asn1628LysfsTer48,ENST00000350773,;TSC2,frameshift_variant,p.Asn1536LysfsTer48,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;MIR1225,downstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000564313,;	5582-5601	46	23	SUCCESS
GPT2	84706	.	GRCh37	16	46918800	46918800	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	41	0	ENST00000340124.4:c.173A>G	p.Lys58Arg	p.K58R	ENST00000340124	NM_133443.2	58	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS10725.1	173	MUTECT|MUSE	.	GGTGAAGGCGG	NONE	.	.	hmmpanther:PTHR11751:SF311,hmmpanther:PTHR11751	.	.	ENSP00000345282	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000340124	Transcript	.	.	ENSG00000166123	18062	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.57)	.	ALAT2_HUMAN	GPT2	HGNC	B3KR40_HUMAN	.	UPI000004DBE2	SNV	GPT2,missense_variant,p.Lys58Arg,ENST00000340124,;GPT2,5_prime_UTR_variant,,ENST00000440783,;GPT2,intron_variant,,ENST00000562132,;	285	41	47	SUCCESS
EDC4	23644	.	GRCh37	16	67916365	67916365	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	65	0	ENST00000358933.5:c.3310G>A	p.Asp1104Asn	p.D1104N	ENST00000358933	NM_014329.4	1104	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10849.1	3310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGACACA	NONE	.	.	hmmpanther:PTHR15598	.	.	ENSP00000351811	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000358933	Transcript	.	.	ENSG00000038358	17157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.84)	.	EDC4_HUMAN	EDC4	HGNC	.	.	UPI0000141377	SNV	EDC4,missense_variant,p.Asp6Asn,ENST00000577105,;EDC4,missense_variant,p.Asp1104Asn,ENST00000358933,;NRN1L,upstream_gene_variant,,ENST00000576147,;NRN1L,upstream_gene_variant,,ENST00000339176,;NRN1L,upstream_gene_variant,,ENST00000576758,;EDC4,upstream_gene_variant,,ENST00000575033,;EDC4,upstream_gene_variant,,ENST00000573985,;CTC-479C5.10,non_coding_transcript_exon_variant,,ENST00000572067,;AC040162.1,downstream_gene_variant,,ENST00000408599,;EDC4,downstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000575507,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000575514,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,downstream_gene_variant,,ENST00000572724,;	3549	65	78	SUCCESS
IL34	146433	.	GRCh37	16	70688456	70688456	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771977946	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	61	148	0	ENST00000288098.2:c.44T>A	p.Leu15His	p.L15H	ENST00000288098	NM_001172772.1	15	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS10895.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTTGGCG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000397863	.	3/7	.	.	.	.	.	.	.	.	rs771977946	3/7	PASS	ENST00000429149	Transcript	.	.	ENSG00000157368	28529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	IL34_HUMAN	IL34	HGNC	J3QQT3_HUMAN,H3BPB7_HUMAN	.	UPI000004C5C6	SNV	IL34,missense_variant,p.Leu15His,ENST00000563721,;IL34,missense_variant,p.Leu15His,ENST00000288098,;IL34,missense_variant,p.Leu15His,ENST00000429149,;IL34,5_prime_UTR_variant,,ENST00000566361,;IL34,intron_variant,,ENST00000569641,;IL34,intron_variant,,ENST00000574181,;	599	148	176	SUCCESS
SLFN12L	100506736	.	GRCh37	17	33807038	33807038	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766297656	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	65	135	0	ENST00000260908.7:c.191G>T	p.Arg64Leu	p.R64L	ENST00000260908	NM_001195790.1	64	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS56026.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCGTGAG	NONE	byFrequency	.	hmmpanther:PTHR12155:SF23,hmmpanther:PTHR12155	.	.	ENSP00000437635	.	2/4	.	.	.	.	.	.	.	.	rs766297656	2/4	PASS	ENST00000260908	Transcript	.	.	ENSG00000205045	33920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.66)	.	deleterious(0.03)	.	.	SLFN12L	HGNC	F5H6G3_HUMAN	.	UPI0001E556C0	SNV	SLFN12L,missense_variant,p.Arg93Leu,ENST00000361112,;SLFN12L,missense_variant,p.Arg95Leu,ENST00000449046,;SLFN12L,missense_variant,p.Arg64Leu,ENST00000260908,;RP11-686D22.9,downstream_gene_variant,,ENST00000587076,;SLFN12L,upstream_gene_variant,,ENST00000590802,;SLFN12L,upstream_gene_variant,,ENST00000587436,;	309	135	150	SUCCESS
GHDC	84514	.	GRCh37	17	40342899	40342899	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1252159909	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	51	0	ENST00000301671.8:c.1105C>T	p.Arg369Ter	p.R369*	ENST00000301671		369	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11422.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCGCACCA	NONE	.	.	hmmpanther:PTHR31901,hmmpanther:PTHR31901:SF5,Pfam_domain:PF03321	.	.	ENSP00000301671	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000301671	Transcript	.	.	ENSG00000167925	24438	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GHDC_HUMAN	GHDC	HGNC	K7EQ41_HUMAN,K7EL54_HUMAN	.	UPI000006E533	SNV	GHDC,stop_gained,p.Arg369Ter,ENST00000414034,;GHDC,stop_gained,p.Arg369Ter,ENST00000436923,;GHDC,stop_gained,p.Arg330Ter,ENST00000428494,;GHDC,stop_gained,p.Arg369Ter,ENST00000587427,;GHDC,stop_gained,p.Arg369Ter,ENST00000301671,;GHDC,stop_gained,p.Arg369Ter,ENST00000593209,;GHDC,downstream_gene_variant,,ENST00000590249,;GHDC,downstream_gene_variant,,ENST00000588352,;GHDC,downstream_gene_variant,,ENST00000590520,;GHDC,downstream_gene_variant,,ENST00000586692,;GHDC,non_coding_transcript_exon_variant,,ENST00000585735,;GHDC,downstream_gene_variant,,ENST00000585375,;GHDC,downstream_gene_variant,,ENST00000588762,;	1547	51	50	SUCCESS
STAT3	6774	.	GRCh37	17	40500452	40500452	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	97	0	ENST00000264657.5:c.83T>A	p.Met28Lys	p.M28K	ENST00000264657	NM_139276.2	28	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS32656.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCATTGGG	NONE	.	.	hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Pfam_domain:PF02865,Gene3D:1bgfA00,SMART_domains:SM00964,Superfamily_domains:0035539	.	.	ENSP00000264657	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000264657	Transcript	.	.	ENSG00000168610	11364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STAT3_HUMAN	STAT3	HGNC	G8JLH9_HUMAN	.	UPI0000031047	SNV	STAT3,missense_variant,p.Met28Lys,ENST00000588969,;STAT3,missense_variant,p.Met28Lys,ENST00000585517,;STAT3,missense_variant,p.Met28Lys,ENST00000404395,;STAT3,missense_variant,p.Met30Lys,ENST00000588065,;STAT3,missense_variant,p.Met28Lys,ENST00000264657,;STAT3,intron_variant,,ENST00000389272,;STAT3,non_coding_transcript_exon_variant,,ENST00000585360,;	396	97	102	SUCCESS
WSCD1	23302	.	GRCh37	17	5998464	5998464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	77	0	ENST00000317744.5:c.770A>G	p.Asn257Ser	p.N257S	ENST00000317744	NM_015253.1	257	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32538.1	770	MUTECT|MUSE	.	AGAGAACATCA	NONE	.	.	PROSITE_profiles:PS51212,hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297,Pfam_domain:PF01822,SMART_domains:SM00321	.	.	ENSP00000460825	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000574946	Transcript	.	.	ENSG00000179314	29060	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.773)	.	tolerated(0.06)	.	WSCD1_HUMAN	WSCD1	HGNC	I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN	.	UPI0000197208	SNV	WSCD1,missense_variant,p.Asn141Ser,ENST00000573634,;WSCD1,missense_variant,p.Asn257Ser,ENST00000574232,;WSCD1,missense_variant,p.Asn257Ser,ENST00000317744,;WSCD1,missense_variant,p.Asn257Ser,ENST00000539421,;WSCD1,missense_variant,p.Asn257Ser,ENST00000574946,;WSCD1,downstream_gene_variant,,ENST00000576947,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	1160	77	53	SUCCESS
SOX9	6662	.	GRCh37	17	70120374	70120374	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	61	0	ENST00000245479.2:c.1376G>T	p.Gly459Val	p.G459V	ENST00000245479	NM_000346.3	459	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11689.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGCACCG	BUFFER|p.T460P|c.1378A>C|3	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212	.	.	ENSP00000245479	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000245479	Transcript	.	.	ENSG00000125398	11204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated(0.15)	.	SOX9_HUMAN	SOX9	HGNC	.	.	UPI00000009D8	SNV	SOX9,missense_variant,p.Gly459Val,ENST00000245479,;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	1748	61	70	SUCCESS
RNF213	57674	.	GRCh37	17	78336932	78336932	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs144458310	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	56	0	ENST00000582970.1:c.11386A>G	p.Arg3796Gly	p.R3796G	ENST00000582970	NM_001256071.1	3796	Agg/Ggg	0	G:0	.	.	.	.	G	R/G	protein_coding	YES	CCDS58606.1	11386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTAGGAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	G:0.0002	ENSP00000464087	.	40/68	.	.	.	.	.	.	.	.	rs144458310	40/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Arg1869Gly,ENST00000336301,;RNF213,missense_variant,p.Arg3796Gly,ENST00000582970,;RNF213,missense_variant,p.Arg3845Gly,ENST00000508628,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,intron_variant,,ENST00000575034,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;RNF213,upstream_gene_variant,,ENST00000558488,;RNF213,upstream_gene_variant,,ENST00000559603,;RNF213,downstream_gene_variant,,ENST00000560694,;	11529	56	65	SUCCESS
SERPINB12	89777	.	GRCh37	18	61232745	61232745	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	45	0	ENST00000269491.1:c.713T>C	p.Val238Ala	p.V238A	ENST00000269491	NM_080474.1	238	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11984.1	713	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTGAAGG	NONE	.	.	hmmpanther:PTHR11461:SF125,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000269491	.	6/7	.	.	.	.	.	.	.	.	COSM3821663	6/7	PASS	ENST00000269491	Transcript	.	.	ENSG00000166634	14220	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.04)	.	tolerated(0.45)	1	SPB12_HUMAN	SERPINB12	HGNC	Q3SYB5_HUMAN	.	UPI0000135590	SNV	SERPINB12,missense_variant,p.Val238Ala,ENST00000269491,;SERPINB12,missense_variant,p.Val258Ala,ENST00000382768,;	713	45	52	SUCCESS
COL5A3	50509	.	GRCh37	19	10112330	10112330	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754261548	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	68	0	ENST00000264828.3:c.980A>G	p.Asp327Gly	p.D327G	ENST00000264828	NM_015719.3	327	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12222.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTCAGGG	NONE	byFrequency	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	.	.	ENSP00000264828	.	8/67	.	.	.	.	.	.	.	.	rs754261548	8/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,missense_variant,p.Asp327Gly,ENST00000264828,;CTD-2553C6.1,downstream_gene_variant,,ENST00000592332,;	1066	68	92	SUCCESS
PSMC4	5704	.	GRCh37	19	40486011	40486011	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	95	199	0	ENST00000157812.2:c.876G>A	p.Leu292=	p.L292=	ENST00000157812	NM_006503.3	292	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12547.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGCTGAA	NONE	.	.	hmmpanther:PTHR23073:SF8,hmmpanther:PTHR23073,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000157812	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000157812	Transcript	.	.	ENSG00000013275	9551	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS6B_HUMAN	PSMC4	HGNC	A8K2M0_HUMAN	.	UPI0000132373	SNV	PSMC4,synonymous_variant,p.%3D,ENST00000157812,;PSMC4,synonymous_variant,p.%3D,ENST00000455878,;ZNF546,upstream_gene_variant,,ENST00000597363,;PSMC4,non_coding_transcript_exon_variant,,ENST00000601194,;PSMC4,non_coding_transcript_exon_variant,,ENST00000593455,;PSMC4,non_coding_transcript_exon_variant,,ENST00000601697,;PSMC4,downstream_gene_variant,,ENST00000596386,;	1074	199	234	SUCCESS
PRR12	57479	.	GRCh37	19	50100971	50100971	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	42	0	ENST00000418929.2:c.3379A>T	p.Ser1127Cys	p.S1127C	ENST00000418929	NM_020719.1	1127	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46143.1	3379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGCTGC	NONE	.	.	hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	.	.	ENSP00000394510	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,missense_variant,p.Ser1127Cys,ENST00000418929,;	3391	42	86	SUCCESS
SIGLEC5	8778	.	GRCh37	19	52130941	52130941	+	synonymous_variant	Silent	SNP	T	T	C	rs533765364	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	28	0	ENST00000534261.2:c.1056A>G	p.Arg352=	p.R352=	ENST00000534261		352	agA/agG	0	.	C:0	.	C:0.0014	.	C	R	protein_coding	YES	CCDS33088.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATCTGCA	NONE	by1000G	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Pfam_domain:PF13895,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	C:0	.	ENSP00000455510	C:0	6/9	.	.	.	.	.	.	.	.	rs533765364	6/9	PASS	ENST00000570106	Transcript	.	C:0.0002	ENSG00000105501	10874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	SIGL5_HUMAN	SIGLEC5	HGNC	.	.	UPI000011B40C	SNV	SIGLEC5,synonymous_variant,p.%3D,ENST00000534261,;SIGLEC5,synonymous_variant,p.%3D,ENST00000599649,;SIGLEC5,synonymous_variant,p.%3D,ENST00000570106,;SIGLEC5,synonymous_variant,p.%3D,ENST00000429354,;SIGLEC5,synonymous_variant,p.%3D,ENST00000222107,;	1056	28	31	SUCCESS
TMEM150B	284417	.	GRCh37	19	55832397	55832397	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	67	112	0	ENST00000326652.4:c.8G>T	p.Gly3Val	p.G3V	ENST00000326652	NM_001282011.1	3	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42629.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCCCCAC	NONE	.	.	hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3	.	.	ENSP00000320757	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000326652	Transcript	.	.	ENSG00000180061	34415	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.01)	.	T150B_HUMAN	TMEM150B	HGNC	K7EM00_HUMAN,K7EKL2_HUMAN	.	UPI00001AF4D4	SNV	TMEM150B,missense_variant,p.Gly3Val,ENST00000326652,;TMEM150B,missense_variant,p.Gly3Val,ENST00000438693,;TMEM150B,missense_variant,p.Gly3Val,ENST00000591570,;TMEM150B,upstream_gene_variant,,ENST00000585918,;TMEM150B,missense_variant,p.Gly3Val,ENST00000592731,;TMEM150B,missense_variant,p.Gly3Val,ENST00000586609,;TMEM150B,missense_variant,p.Gly3Val,ENST00000592603,;TMEM150B,non_coding_transcript_exon_variant,,ENST00000592891,;	191	112	145	SUCCESS
TRIM28	10155	.	GRCh37	19	59061183	59061183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	31	70	0	ENST00000253024.5:c.2062G>T	p.Asp688Tyr	p.D688Y	ENST00000253024	NM_005762.2	688	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS12985.1	2062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGACAGC	NONE	.	.	.	.	.	ENSP00000253024	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000253024	Transcript	.	.	ENSG00000130726	16384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	tolerated(0.08)	.	TIF1B_HUMAN	TRIM28	HGNC	M0R3C0_HUMAN,M0QZE6_HUMAN	.	UPI0000136C15	SNV	TRIM28,missense_variant,p.Asp606Tyr,ENST00000341753,;TRIM28,missense_variant,p.Asp688Tyr,ENST00000253024,;TRIM28,missense_variant,p.Asp313Tyr,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000312547,;CHMP2A,downstream_gene_variant,,ENST00000600118,;TRIM28,downstream_gene_variant,,ENST00000597968,;CHMP2A,downstream_gene_variant,,ENST00000601220,;TRIM28,downstream_gene_variant,,ENST00000594806,;CHMP2A,downstream_gene_variant,,ENST00000596708,;CHMP2A,downstream_gene_variant,,ENST00000597848,;TRIM28,downstream_gene_variant,,ENST00000593582,;CHMP2A,downstream_gene_variant,,ENST00000600006,;TRIM28,non_coding_transcript_exon_variant,,ENST00000598355,;TRIM28,non_coding_transcript_exon_variant,,ENST00000595974,;TRIM28,non_coding_transcript_exon_variant,,ENST00000600840,;CHMP2A,downstream_gene_variant,,ENST00000600804,;TRIM28,downstream_gene_variant,,ENST00000597172,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,downstream_gene_variant,,ENST00000597423,;TRIM28,downstream_gene_variant,,ENST00000597618,;TRIM28,downstream_gene_variant,,ENST00000601150,;TRIM28,downstream_gene_variant,,ENST00000597995,;TRIM28,downstream_gene_variant,,ENST00000595028,;	2351	70	37	SUCCESS
COL11A1	1301	.	GRCh37	1	103481268	103481268	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150428394	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	42	124	0	ENST00000370096.3:c.1444G>T	p.Ala482Ser	p.A482S	ENST00000370096	NM_001854.3	482	Gct/Tct	0	T:0.0002	.	.	.	.	A	A/S	protein_coding	YES	CCDS778.1	1444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCCCCTG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	T:0	ENSP00000359114	.	12/67	.	.	.	.	.	.	.	.	rs150428394	12/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Ala366Ser,ENST00000512756,;COL11A1,missense_variant,p.Ala443Ser,ENST00000353414,;COL11A1,missense_variant,p.Ala494Ser,ENST00000427239,;COL11A1,missense_variant,p.Ala482Ser,ENST00000370096,;COL11A1,missense_variant,p.Ala494Ser,ENST00000358392,;	1757	124	119	SUCCESS
HIPK1	204851	.	GRCh37	1	114500750	114500750	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	112	0	ENST00000369558.1:c.1818T>C	p.Asp606=	p.D606=	ENST00000369558		606	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS867.1	1818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGATGTCTC	NONE	.	.	hmmpanther:PTHR24058:SF43,hmmpanther:PTHR24058	.	.	ENSP00000358571	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,synonymous_variant,p.%3D,ENST00000369553,;HIPK1,synonymous_variant,p.%3D,ENST00000369559,;HIPK1,synonymous_variant,p.%3D,ENST00000369561,;HIPK1,synonymous_variant,p.%3D,ENST00000369558,;HIPK1,synonymous_variant,p.%3D,ENST00000369554,;HIPK1,synonymous_variant,p.%3D,ENST00000406344,;HIPK1,synonymous_variant,p.%3D,ENST00000340480,;HIPK1,synonymous_variant,p.%3D,ENST00000369555,;HIPK1,synonymous_variant,p.%3D,ENST00000426820,;	2050	112	124	SUCCESS
AADACL3	126767	.	GRCh37	1	12780887	12780887	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs768560484	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	39	1	ENST00000359318.5:c.217A>G	p.Thr73Ala	p.T73A	ENST00000359318	NM_001103170.1	73	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS41253.1	217	MUTECT|MUSE	.	TAGAAACCCAC	NONE	byFrequency	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF107,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474	.	.	ENSP00000352268	.	3/4	.	.	.	.	.	.	.	.	rs768560484	3/4	PASS	ENST00000359318	Transcript	.	.	ENSG00000188984	32037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.239)	.	tolerated(0.25)	.	ADCL3_HUMAN	AADACL3	HGNC	.	.	UPI00001611D0	SNV	AADACL3,missense_variant,p.Thr73Ala,ENST00000359318,;AADACL3,missense_variant,p.Thr3Ala,ENST00000332530,;	422	40	59	SUCCESS
MTX1	4580	.	GRCh37	1	155180142	155180142	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	100	0	ENST00000368376.3:c.534T>C	p.Tyr178=	p.Y178=	ENST00000368376	NM_002455.3	178	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS1100.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTATGCCAG	NONE	.	.	hmmpanther:PTHR12289:SF34,hmmpanther:PTHR12289,Pfam_domain:PF10568	.	.	ENSP00000357360	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000368376	Transcript	.	.	ENSG00000173171	7504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTX1_HUMAN	MTX1	HGNC	.	.	UPI0000225CC9	SNV	MTX1,synonymous_variant,p.%3D,ENST00000368376,;MTX1,synonymous_variant,p.%3D,ENST00000609421,;MTX1,synonymous_variant,p.%3D,ENST00000316721,;THBS3,upstream_gene_variant,,ENST00000368378,;THBS3,upstream_gene_variant,,ENST00000541990,;THBS3,upstream_gene_variant,,ENST00000457183,;RP11-263K19.4,downstream_gene_variant,,ENST00000453136,;RP11-263K19.6,downstream_gene_variant,,ENST00000455788,;RP11-263K19.4,downstream_gene_variant,,ENST00000430312,;MTX1,upstream_gene_variant,,ENST00000495589,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000368374,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,synonymous_variant,p.%3D,ENST00000424959,;MTX1,non_coding_transcript_exon_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000495492,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000313929,;GBAP1,downstream_gene_variant,,ENST00000566701,;	640	100	112	SUCCESS
KCNT2	343450	.	GRCh37	1	196451495	196451495	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	55	0	ENST00000294725.9:c.290G>C	p.Trp97Ser	p.W97S	ENST00000294725		97	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS1384.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCAAAAG	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Gene3D:1.10.287.70	.	.	ENSP00000294725	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	SNV	KCNT2,missense_variant,p.Trp97Ser,ENST00000609185,;KCNT2,missense_variant,p.Trp97Ser,ENST00000294725,;KCNT2,missense_variant,p.Trp97Ser,ENST00000367433,;KCNT2,missense_variant,p.Trp97Ser,ENST00000367431,;KCNT2,5_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	1206	55	49	SUCCESS
TMEM206	0	.	GRCh37	1	212588182	212588182	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	16	0	ENST00000535273.1:c.-83G>A		p.*28*	ENST00000535273	NM_001198862.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55687.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACCTACC	NONE	.	.	.	.	.	ENSP00000438863	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000535273	Transcript	.	.	ENSG00000065600	25593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM206_HUMAN	TMEM206	HGNC	B4DHQ5_HUMAN	.	UPI0001914DBE	SNV	TMEM206,5_prime_UTR_variant,,ENST00000261455,;TMEM206,5_prime_UTR_variant,,ENST00000535273,;TMEM206,non_coding_transcript_exon_variant,,ENST00000471937,;TMEM206,upstream_gene_variant,,ENST00000467822,;	62	16	35	SUCCESS
RGS7	6000	.	GRCh37	1	241262022	241262022	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	39	0	ENST00000366565.1:c.119G>A	p.Gly40Glu	p.G40E	ENST00000366565	NM_002924.4	40	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS31071.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTCCATTT	BUFFER|p.R44C|c.130C>T|11,BUFFER|p.R44C|c.130C>T|11,BUFFER|p.R44C|c.130C>T|11,BUFFER|p.E37K|c.109G>A|3,BUFFER|p.E37K|c.109G>A|3,BUFFER|p.E37K|c.109G>A|3	.	.	Superfamily_domains:SSF46785,SMART_domains:SM00049,Pfam_domain:PF00610,Gene3D:1.10.10.10,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,PROSITE_profiles:PS50186	.	.	ENSP00000355523	.	3/18	.	.	.	.	.	.	.	.	COSM3486105,COSM3486104,COSM3486106	3/18	PASS	ENST00000366565	Transcript	.	.	ENSG00000182901	10003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1,1	RGS7_HUMAN	RGS7	HGNC	.	.	UPI000040E182	SNV	RGS7,missense_variant,p.Gly14Glu,ENST00000331110,;RGS7,missense_variant,p.Gly40Glu,ENST00000401882,;RGS7,missense_variant,p.Gly40Glu,ENST00000366564,;RGS7,missense_variant,p.Gly40Glu,ENST00000366565,;RGS7,missense_variant,p.Gly40Glu,ENST00000366562,;RGS7,missense_variant,p.Gly40Glu,ENST00000407727,;RGS7,missense_variant,p.Gly40Glu,ENST00000366563,;RGS7,missense_variant,p.Gly40Glu,ENST00000348120,;RGS7,5_prime_UTR_variant,,ENST00000446183,;	501	39	39	SUCCESS
CNST	163882	.	GRCh37	1	246754974	246754974	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	41	109	0	ENST00000366513.4:c.110A>T	p.Asp37Val	p.D37V	ENST00000366513	NM_152609.2	37	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS1628.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGATGAAA	NONE	.	.	.	.	.	ENSP00000355470	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000366513	Transcript	.	.	ENSG00000162852	26486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNST_HUMAN	CNST	HGNC	.	.	UPI000013E1DF	SNV	CNST,missense_variant,p.Asp37Val,ENST00000366513,;CNST,missense_variant,p.Asp37Val,ENST00000366511,;CNST,missense_variant,p.Asp37Val,ENST00000366512,;CNST,non_coding_transcript_exon_variant,,ENST00000483271,;	379	109	133	SUCCESS
GRIK3	2899	.	GRCh37	1	37282833	37282833	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	62	117	0	ENST00000373091.3:c.1919G>T	p.Gly640Val	p.G640V	ENST00000373091	NM_000831.3	640	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS416.1	1919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCCACCA	NONE	.	.	Prints_domain:PR00177,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	.	.	ENSP00000362183	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000373091	Transcript	.	.	ENSG00000163873	4581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRIK3_HUMAN	GRIK3	HGNC	Q96SC0_HUMAN	.	UPI000013E311	SNV	GRIK3,missense_variant,p.Gly640Val,ENST00000373093,;GRIK3,missense_variant,p.Gly640Val,ENST00000373091,;	1936	118	169	SUCCESS
RAVER2	55225	.	GRCh37	1	65255125	65255125	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	69	0	ENST00000294428.3:c.1033A>G	p.Lys345Glu	p.K345E	ENST00000294428		345	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41345.1	1033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGAAAAGT	NONE	.	.	hmmpanther:PTHR23189:SF6,hmmpanther:PTHR23189	.	.	ENSP00000360112	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000371072	Transcript	.	.	ENSG00000162437	25577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.46)	.	deleterious(0.03)	.	RAVR2_HUMAN	RAVER2	HGNC	.	.	UPI000043DED2	SNV	RAVER2,missense_variant,p.Lys345Glu,ENST00000294428,;RAVER2,missense_variant,p.Lys51Glu,ENST00000430964,;RAVER2,missense_variant,p.Lys345Glu,ENST00000371072,;RAVER2,missense_variant,p.Lys51Glu,ENST00000418058,;	1111	69	70	SUCCESS
BFSP1	631	.	GRCh37	20	17539357	17539357	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	29	0	ENST00000377868.2:c.-23G>A		p.*8*	ENST00000377868	NM_001278607.1			0	.	.	.	.	.	T	.	protein_coding	.	CCDS63229.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCTTCTG	NONE	.	.	.	.	.	ENSP00000439870	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000544874	Transcript	1	.	ENSG00000125864	1040	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	BFSP1	HGNC	F5H0G1_HUMAN	.	UPI0000E0649F	SNV	BFSP1,5_prime_UTR_variant,,ENST00000544874,;BFSP1,5_prime_UTR_variant,,ENST00000377868,;BFSP1,intron_variant,,ENST00000536626,;BFSP1,intron_variant,,ENST00000473415,;	127	29	37	SUCCESS
PTPRA	5786	.	GRCh37	20	3007357	3007357	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	64	0	ENST00000380393.3:c.1639A>T	p.Asn547Tyr	p.N547Y	ENST00000380393	NM_002836.3	547	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS13038.1	1639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAATGAC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	.	.	ENSP00000369756	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000380393	Transcript	.	.	ENSG00000132670	9664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	PTPRA_HUMAN	PTPRA	HGNC	Q5JWG3_HUMAN,Q5JWG2_HUMAN	.	UPI000007155E	SNV	PTPRA,missense_variant,p.Asn538Tyr,ENST00000216877,;PTPRA,missense_variant,p.Asn538Tyr,ENST00000356147,;PTPRA,missense_variant,p.Asn558Tyr,ENST00000425918,;PTPRA,missense_variant,p.Asn547Tyr,ENST00000399903,;PTPRA,missense_variant,p.Asn547Tyr,ENST00000380393,;PTPRA,missense_variant,p.Asn403Tyr,ENST00000358719,;PTPRA,missense_variant,p.Asn538Tyr,ENST00000318266,;	2325	64	95	SUCCESS
MYH7B	57644	.	GRCh37	20	33575459	33575459	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	30	64	0	ENST00000262873.7:c.1373A>T	p.Lys458Met	p.K458M	ENST00000262873	NM_020884.3	458	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS42869.1	1373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAAGGGCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000262873	.	15/43	.	.	.	.	.	.	.	.	.	15/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,missense_variant,p.Lys458Met,ENST00000262873,;MIR499A,upstream_gene_variant,,ENST00000384903,;	1465	64	131	SUCCESS
USP25	29761	.	GRCh37	21	17163836	17163836	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	56	0	ENST00000285679.6:c.408C>T	p.Ser136=	p.S136=	ENST00000285679	NM_013396.3	136	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33515.1	408	MUTECT|MUSE	.	GCCAGCATAGC	NONE	.	.	hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006,Pfam_domain:PF02809	.	.	ENSP00000285679	.	5/24	.	.	.	.	.	.	.	.	COSM1413404	5/24	PASS	ENST00000285679	Transcript	.	.	ENSG00000155313	12624	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	UBP25_HUMAN	USP25	HGNC	Q9HA22_HUMAN	.	UPI000002B680	SNV	USP25,synonymous_variant,p.%3D,ENST00000400183,;USP25,synonymous_variant,p.%3D,ENST00000351097,;USP25,synonymous_variant,p.%3D,ENST00000285679,;USP25,synonymous_variant,p.%3D,ENST00000285681,;USP25,non_coding_transcript_exon_variant,,ENST00000549362,;USP25,non_coding_transcript_exon_variant,,ENST00000547201,;	777	56	53	SUCCESS
LTN1	26046	.	GRCh37	21	30329699	30329699	+	synonymous_variant	Silent	SNP	C	C	T	rs948803279	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	58	0	ENST00000361371.5:c.2847G>A	p.Pro949=	p.P949=	ENST00000361371		949	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33527.2	2985	MUTECT|MUSE	.	TCGTTCGGCAT	NONE	.	.	hmmpanther:PTHR12389	.	.	ENSP00000373846	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000389194	Transcript	.	.	ENSG00000198862	13082	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LTN1_HUMAN	LTN1	HGNC	G1UI34_HUMAN	.	UPI000049DF6C	SNV	LTN1,synonymous_variant,p.%3D,ENST00000361371,;LTN1,synonymous_variant,p.%3D,ENST00000389194,;LTN1,downstream_gene_variant,,ENST00000389195,;LTN1,downstream_gene_variant,,ENST00000486427,;LTN1,downstream_gene_variant,,ENST00000475344,;	2991	58	62	SUCCESS
PCNT	5116	.	GRCh37	21	47783761	47783761	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs578233518	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	36	66	0	ENST00000359568.5:c.2521C>T	p.Arg841Trp	p.R841W	ENST00000359568	NM_006031.5	841	Cgg/Tgg	0	.	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS33592.1	2521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGGGAG	NONE	by1000G	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	T:0	.	ENSP00000352572	T:0	14/47	.	.	.	.	.	.	.	.	rs578233518	14/47	PASS	ENST00000359568	Transcript	.	T:0.0002	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	T:0.001	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Arg841Trp,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;	2628	66	71	SUCCESS
UBE2L3	7332	.	GRCh37	22	21922044	21922044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	45	120	0	ENST00000342192.4:c.11G>T	p.Ser4Ile	p.S4I	ENST00000342192	NM_003347.3	4	aGc/aTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58795.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCAGGA	NONE	.	.	.	.	.	ENSP00000400906	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458578	Transcript	.	.	ENSG00000185651	12488	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2L3_HUMAN	UBE2L3	HGNC	.	.	UPI0001AE62DF	SNV	UBE2L3,missense_variant,p.Ser4Ile,ENST00000545681,;UBE2L3,missense_variant,p.Ser4Ile,ENST00000342192,;UBE2L3,intron_variant,,ENST00000458578,;UBE2L3,non_coding_transcript_exon_variant,,ENST00000496722,;	.	120	127	SUCCESS
IGLV3-9	28804	.	GRCh37	22	23162121	23162121	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374969705	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	45	93	0	ENST00000390316.2:c.214C>T	p.Arg72Trp	p.R72W	ENST00000390316		72	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	IG_V_gene	YES	.	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCGGCCC	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000374851	.	2/2	.	.	.	.	.	.	.	.	rs374969705	2/2	PASS	ENST00000390316	Transcript	.	.	ENSG00000211670	5918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.229)	.	deleterious(0.02)	.	.	IGLV3-9	HGNC	A2MYD5_HUMAN	.	UPI0000EE5A41	SNV	IGLV3-9,missense_variant,p.Arg72Trp,ENST00000390316,;IGLV2-8,upstream_gene_variant,,ENST00000390317,;MIR650,upstream_gene_variant,,ENST00000385101,;LL22NC03-84E4.11,downstream_gene_variant,,ENST00000423259,;	329	93	91	SUCCESS
SRRD	402055	.	GRCh37	22	26887637	26887637	+	stop_retained_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	9	11	0	ENST00000215917.7:c.1019G>A	p.Ter340=	p.*340=	ENST00000215917	NM_001013694.2	340	tGa/tAa	0	.	.	.	.	.	A	*	protein_coding	YES	CCDS42995.1	1019	RADIA|MUTECT|MUSE	.	TGACTGAACTC	NONE	.	.	.	.	.	ENSP00000215917	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000215917	Transcript	.	.	ENSG00000100104	33910	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRR1L_HUMAN	SRRD	HGNC	.	.	UPI00000723CF	SNV	SRRD,stop_retained_variant,p.%3D,ENST00000215917,;TFIP11,3_prime_UTR_variant,,ENST00000407690,;TFIP11,downstream_gene_variant,,ENST00000407431,;TFIP11,downstream_gene_variant,,ENST00000407148,;TFIP11,downstream_gene_variant,,ENST00000405938,;SRRD,non_coding_transcript_exon_variant,,ENST00000471799,;SRRD,downstream_gene_variant,,ENST00000477945,;TFIP11,downstream_gene_variant,,ENST00000492137,;	1033	11	13	SUCCESS
SMTN	6525	.	GRCh37	22	31485773	31485773	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	56	0	ENST00000347557.2:c.560T>G	p.Val187Gly	p.V187G	ENST00000347557	NM_001207017.1	187	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS13887.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGTGACAC	NONE	.	.	hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915	.	.	ENSP00000351593	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000358743	Transcript	.	.	ENSG00000183963	11126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.52)	.	SMTN_HUMAN	SMTN	HGNC	C9JP19_HUMAN,C9JGQ0_HUMAN	.	UPI00001B0272	SNV	SMTN,missense_variant,p.Val187Gly,ENST00000333137,;SMTN,missense_variant,p.Val187Gly,ENST00000358743,;SMTN,missense_variant,p.Val187Gly,ENST00000347557,;SMTN,downstream_gene_variant,,ENST00000432777,;SMTN,upstream_gene_variant,,ENST00000455608,;SMTN,downstream_gene_variant,,ENST00000416786,;SMTN,downstream_gene_variant,,ENST00000440425,;SMTN,downstream_gene_variant,,ENST00000426927,;SMTN,downstream_gene_variant,,ENST00000438223,;SMTN,upstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000422839,;SMTN,downstream_gene_variant,,ENST00000431481,;SMTN,downstream_gene_variant,,ENST00000475548,;SMTN,downstream_gene_variant,,ENST00000482444,;SMTN,non_coding_transcript_exon_variant,,ENST00000466272,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,downstream_gene_variant,,ENST00000497697,;SMTN,upstream_gene_variant,,ENST00000493335,;	778	57	75	SUCCESS
LDOC1L	0	.	GRCh37	22	44892949	44892949	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374819770	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	70	0	ENST00000341255.3:c.488G>A	p.Arg163His	p.R163H	ENST00000341255	NM_032287.2	163	cGc/cAc	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS33662.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCGCAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15503:SF5,hmmpanther:PTHR15503	.	T:0	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	rs374819770	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	tolerated(0.54)	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,missense_variant,p.Arg163His,ENST00000341255,;	998	70	90	SUCCESS
PSD4	23550	.	GRCh37	2	113950141	113950141	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	46	0	ENST00000245796.6:c.1813G>A	p.Glu605Lys	p.E605K	ENST00000245796	NM_012455.2	605	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33276.1	1813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGAAGTG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000245796	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000245796	Transcript	.	.	ENSG00000125637	19096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PSD4_HUMAN	PSD4	HGNC	B3KN27_HUMAN	.	UPI00004A0748	SNV	PSD4,missense_variant,p.Glu577Lys,ENST00000441564,;PSD4,missense_variant,p.Glu605Lys,ENST00000245796,;PSD4,upstream_gene_variant,,ENST00000409378,;PSD4,3_prime_UTR_variant,,ENST00000409656,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000487574,;PSD4,upstream_gene_variant,,ENST00000493329,;PSD4,upstream_gene_variant,,ENST00000465592,;PSD4,upstream_gene_variant,,ENST00000460725,;	2008	46	30	SUCCESS
GLI2	2736	.	GRCh37	2	121748010	121748010	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757408573	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	47	121	0	ENST00000361492.4:c.4520C>A	p.Ala1507Asp	p.A1507D	ENST00000361492	NM_005270.4	1507	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS33283.1	4520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCCCCC	NONE	byFrequency	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	rs757408573	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.66)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Ala1507Asp,ENST00000452319,;GLI2,missense_variant,p.Ala1507Asp,ENST00000361492,;GLI2,intron_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	4580	121	72	SUCCESS
NMI	9111	.	GRCh37	2	152128184	152128184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	56	0	ENST00000243346.5:c.697G>T	p.Val233Phe	p.V233F	ENST00000243346	NM_004688.2	233	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS2192.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAACTCTAT	NONE	.	.	hmmpanther:PTHR15225:SF4,hmmpanther:PTHR15225,Pfam_domain:PF07292	.	.	ENSP00000243346	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000243346	Transcript	.	.	ENSG00000123609	7854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NMI_HUMAN	NMI	HGNC	C9JW17_HUMAN	.	UPI000013CB35	SNV	NMI,missense_variant,p.Val233Phe,ENST00000243346,;	1168	56	19	SUCCESS
SCN7A	6332	.	GRCh37	2	167297978	167297978	+	synonymous_variant	Silent	SNP	G	G	A	rs767132512	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	50	132	0	ENST00000409855.1:c.2085C>T	p.Asp695=	p.D695=	ENST00000409855	NM_002976.3	695	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS46442.1	2085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAGTCCCA	NONE	byFrequency	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	14/25	.	.	.	.	.	.	.	.	rs767132512	14/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,synonymous_variant,p.%3D,ENST00000409855,;SCN7A,synonymous_variant,p.%3D,ENST00000419992,;SCN7A,synonymous_variant,p.%3D,ENST00000424326,;	2212	132	72	SUCCESS
TTN	7273	.	GRCh37	2	179577610	179577610	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	73	0	ENST00000591111.1:c.26191T>A	p.Phe8731Ile	p.F8731I	ENST00000591111		8731	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS59435.1	27142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAAAGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	94/363	.	.	.	.	.	.	.	.	.	94/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Phe7804Ile,ENST00000342992,;TTN,missense_variant,p.Phe9048Ile,ENST00000589042,;TTN,missense_variant,p.Phe8731Ile,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	27367	73	86	SUCCESS
SLC11A1	6556	.	GRCh37	2	219246999	219246999	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	14	20	0	ENST00000233202.6:c.-93C>A		p.*31*	ENST00000233202	NM_000578.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2415.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACTTACT	NONE	.	.	.	.	.	ENSP00000233202	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000233202	Transcript	.	.	ENSG00000018280	10907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRAM1_HUMAN	SLC11A1	HGNC	Q8NDV6_HUMAN	.	UPI0000130520	SNV	SLC11A1,5_prime_UTR_variant,,ENST00000233202,;SLC11A1,upstream_gene_variant,,ENST00000539932,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000486451,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000473367,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000481524,;SLC11A1,5_prime_UTR_variant,,ENST00000354352,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000465984,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000494322,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000468221,;SLC11A1,upstream_gene_variant,,ENST00000471875,;SLC11A1,upstream_gene_variant,,ENST00000469799,;SLC11A1,upstream_gene_variant,,ENST00000492413,;SLC11A1,upstream_gene_variant,,ENST00000475225,;SLC11A1,upstream_gene_variant,,ENST00000460592,;SLC11A1,upstream_gene_variant,,ENST00000483487,;SLC11A1,upstream_gene_variant,,ENST00000469449,;	248	20	16	SUCCESS
RTN4	57142	.	GRCh37	2	55254181	55254181	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	77	0	ENST00000337526.6:c.1054A>G	p.Lys352Glu	p.K352E	ENST00000337526	NM_020532.4	352	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS42684.1	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTTAGTAA	NONE	.	.	hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994	.	.	ENSP00000337838	.	3/9	.	.	.	.	.	.	.	.	COSM3426544,COSM3426543	3/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.002)	.	tolerated(0.88)	1,1	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,missense_variant,p.Lys146Glu,ENST00000404909,;RTN4,missense_variant,p.Lys146Glu,ENST00000405240,;RTN4,missense_variant,p.Lys120Glu,ENST00000354474,;RTN4,missense_variant,p.Lys352Glu,ENST00000337526,;RTN4,missense_variant,p.Lys146Glu,ENST00000357376,;RTN4,missense_variant,p.Lys146Glu,ENST00000394611,;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000357732,;RTN4,intron_variant,,ENST00000438462,;RTN4,intron_variant,,ENST00000317610,;RTN4,downstream_gene_variant,,ENST00000427710,;	1298	77	63	SUCCESS
IGKV2-24	28923	.	GRCh37	2	89476070	89476070	+	synonymous_variant	Silent	SNP	G	G	A	rs755369433	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	117	222	1	ENST00000484817.1:c.102C>T	p.Thr34=	p.T34=	ENST00000484817		34	acC/acT	0	.	.	.	.	.	A	T	IG_V_gene	YES	.	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGGTGAC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	.	.	ENSP00000419300	.	2/2	.	.	.	.	.	.	.	.	rs755369433	2/2	PASS	ENST00000484817	Transcript	.	.	ENSG00000241294	5781	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGKV2-24	HGNC	.	.	UPI0000115DCF	SNV	IGKV2-24,synonymous_variant,p.%3D,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,;	132	223	272	SUCCESS
KIAA1211L	0	.	GRCh37	2	99439342	99439342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	14	0	ENST00000397899.2:c.1394A>G	p.Glu465Gly	p.E465G	ENST00000397899	NM_207362.2	465	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS42720.1	1394	RADIA|MUSE	.	CCGTCTCCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	.	.	ENSP00000380996	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000397899	Transcript	.	.	ENSG00000196872	33454	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.607)	.	tolerated(0.27)	.	K121L_HUMAN	KIAA1211L	HGNC	.	.	UPI0000E59245	SNV	KIAA1211L,missense_variant,p.Glu465Gly,ENST00000397899,;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;	1726	14	12	SUCCESS
POLQ	10721	.	GRCh37	3	121158914	121158914	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	18	0	ENST00000264233.5:c.7314A>G	p.Gly2438=	p.G2438=	ENST00000264233	NM_199420.3	2438	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS33833.1	7314	RADIA|MUSE	.	ACAAATCCGTC	NONE	.	.	Gene3D:1.10.150.20,Pfam_domain:PF00476,SMART_domains:SM00482,Superfamily_domains:SSF56672	.	.	ENSP00000264233	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,synonymous_variant,p.%3D,ENST00000264233,;POLQ,downstream_gene_variant,,ENST00000474243,;	7443	18	30	SUCCESS
STAG1	10274	.	GRCh37	3	136085882	136085882	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	110	0	ENST00000383202.2:c.2588A>G	p.His863Arg	p.H863R	ENST00000383202	NM_005862.2	863	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3090.1	2588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATGTAAG	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6	.	.	ENSP00000372689	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000383202	Transcript	.	.	ENSG00000118007	11354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	STAG1_HUMAN	STAG1	HGNC	Q4LE48_HUMAN	.	UPI000020A2DE	SNV	STAG1,missense_variant,p.His447Arg,ENST00000536929,;STAG1,missense_variant,p.His637Arg,ENST00000434713,;STAG1,missense_variant,p.His863Arg,ENST00000383202,;STAG1,missense_variant,p.His863Arg,ENST00000236698,;STAG1,3_prime_UTR_variant,,ENST00000483235,;	2845	110	131	SUCCESS
XPC	7508	.	GRCh37	3	14220101	14220101	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs984066421	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	36	0	ENST00000285021.7:c.-33A>C		p.*11*	ENST00000285021	NM_004628.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2619.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGTGACGC	NONE	.	.	.	.	.	ENSP00000302160	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000306024	Transcript	.	.	ENSG00000170860	17874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LSM3_HUMAN	LSM3	HGNC	.	.	UPI0000003E6A	SNV	LSM3,5_prime_UTR_variant,,ENST00000306024,;XPC,5_prime_UTR_variant,,ENST00000285021,;XPC,5_prime_UTR_variant,,ENST00000511155,;XPC,upstream_gene_variant,,ENST00000449060,;XPC,5_prime_UTR_variant,,ENST00000476581,;	244	36	71	SUCCESS
ZIC1	7545	.	GRCh37	3	147128660	147128660	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	60	93	0	ENST00000282928.4:c.761C>A	p.Thr254Lys	p.T254K	ENST00000282928	NM_003412.3	254	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS3136.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTACGCACG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000282928	.	1/3	.	.	.	.	.	.	.	.	COSM4114280	1/3	PASS	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious(0)	1	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	SNV	ZIC1,missense_variant,p.Thr254Lys,ENST00000282928,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000491672,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	1490	93	161	SUCCESS
IL12A	3592	.	GRCh37	3	159711260	159711260	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	103	0	ENST00000305579.2:c.401G>C	p.Arg134Thr	p.R134T	ENST00000305579	NM_000882.3	134	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS3187.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGAGAGA	NONE	.	.	hmmpanther:PTHR10523,Pfam_domain:PF03039,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000303231	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000305579	Transcript	.	.	ENSG00000168811	5969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	tolerated(0.38)	.	IL12A_HUMAN	IL12A	HGNC	Q7LDP2_HUMAN,O60595_HUMAN	.	UPI0000073D3D	SNV	IL12A,missense_variant,p.Arg134Thr,ENST00000305579,;IL12A,missense_variant,p.Arg96Thr,ENST00000480787,;IL12A,intron_variant,,ENST00000466512,;IL12A-AS1,intron_variant,,ENST00000497452,;IL12A-AS1,downstream_gene_variant,,ENST00000462431,;IL12A,non_coding_transcript_exon_variant,,ENST00000468862,;IL12A,non_coding_transcript_exon_variant,,ENST00000496308,;IL12A,downstream_gene_variant,,ENST00000480088,;	708	103	99	SUCCESS
TOP2B	7155	.	GRCh37	3	25670532	25670532	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	39	0	ENST00000264331.4:c.1794T>A	p.Ile598=	p.I598=	ENST00000264331		598	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS46776.1	1779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACAATAGG	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Gene3D:3.40.50.670,SMART_domains:SM00433,Superfamily_domains:SSF56719,Prints_domain:PR00418,Prints_domain:PR01158	.	.	ENSP00000396704	.	14/36	.	.	.	.	.	.	.	.	.	14/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,synonymous_variant,p.%3D,ENST00000264331,;TOP2B,synonymous_variant,p.%3D,ENST00000435706,;TOP2B,synonymous_variant,p.%3D,ENST00000424225,;TOP2B,non_coding_transcript_exon_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;	1981	39	42	SUCCESS
SNRK	54861	.	GRCh37	3	43388906	43388906	+	synonymous_variant	Silent	SNP	G	G	A	rs766398727	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	19	0	ENST00000296088.7:c.1155G>A	p.Ala385=	p.A385=	ENST00000296088	NM_017719.4	385	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43075.1	1155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCGACTGT	BUFFER|p.P388P|c.1164T>C|3,BUFFER|p.P388P|c.1164T>C|3	.	.	hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343	.	.	ENSP00000296088	.	7/7	.	.	.	.	.	.	.	.	rs766398727	7/7	PASS	ENST00000296088	Transcript	.	.	ENSG00000163788	30598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNRK_HUMAN	SNRK	HGNC	E7EUC4_HUMAN	.	UPI00000558E4	SNV	SNRK,synonymous_variant,p.%3D,ENST00000296088,;SNRK,synonymous_variant,p.%3D,ENST00000429705,;SNRK,synonymous_variant,p.%3D,ENST00000454177,;SNRK,synonymous_variant,p.%3D,ENST00000437827,;RP11-188P20.3,non_coding_transcript_exon_variant,,ENST00000607513,;SNRK-AS1,downstream_gene_variant,,ENST00000422681,;SNRK,intron_variant,,ENST00000468628,;SNRK,non_coding_transcript_exon_variant,,ENST00000481892,;	1459	19	41	SUCCESS
CADPS	8618	.	GRCh37	3	62385129	62385129	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	118	0	ENST00000383710.4:c.4014G>A	p.Gln1338=	p.Q1338=	ENST00000383710	NM_003716.3	1338	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS46858.1	4014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCTGCAG	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,synonymous_variant,p.%3D,ENST00000357948,;CADPS,synonymous_variant,p.%3D,ENST00000283269,;CADPS,synonymous_variant,p.%3D,ENST00000383710,;CADPS,synonymous_variant,p.%3D,ENST00000473635,;CADPS,downstream_gene_variant,,ENST00000466621,;CADPS,non_coding_transcript_exon_variant,,ENST00000474560,;CADPS,non_coding_transcript_exon_variant,,ENST00000486172,;	4364	118	107	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64617541	64617541	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	95	0	ENST00000498707.1:c.2236G>C	p.Gly746Arg	p.G746R	ENST00000498707	NM_182920.1	746	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS2903.1	2236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCACAAA	NONE	.	.	hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Prints_domain:PR01857	.	.	ENSP00000418735	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Gly718Arg,ENST00000295903,;ADAMTS9,missense_variant,p.Gly746Arg,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	2579	95	107	SUCCESS
LMCD1	29995	.	GRCh37	3	8607167	8607167	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1162178766	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	80	0	ENST00000157600.3:c.773A>T	p.Tyr258Phe	p.Y258F	ENST00000157600	NM_014583.3	258	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS33688.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTACTCGG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24211:SF0,hmmpanther:PTHR24211,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,SMART_domains:SM00132	.	.	ENSP00000157600	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000157600	Transcript	.	.	ENSG00000071282	6633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	tolerated(0.12)	.	LMCD1_HUMAN	LMCD1	HGNC	B4DG80_HUMAN	.	UPI000012E774	SNV	LMCD1,missense_variant,p.Tyr258Phe,ENST00000157600,;LMCD1,missense_variant,p.Tyr185Phe,ENST00000454244,;LMCD1,missense_variant,p.Tyr146Phe,ENST00000397386,;LMCD1-AS1,intron_variant,,ENST00000439407,;LMCD1,3_prime_UTR_variant,,ENST00000456506,;	1005	80	114	SUCCESS
PROL1	0	.	GRCh37	4	71275489	71275489	+	synonymous_variant	Silent	SNP	C	C	T	rs767152161	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	85	158	0	ENST00000399575.2:c.444C>T	p.Thr148=	p.T148=	ENST00000399575	NM_021225.4	148	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43235.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCGCAGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF8	.	.	ENSP00000382485	.	3/3	.	.	.	.	.	.	.	.	rs767152161,COSM481462	3/3	PASS	ENST00000399575	Transcript	.	.	ENSG00000171199	17279	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PROL1_HUMAN	PROL1	HGNC	.	.	UPI000020BE52	SNV	PROL1,synonymous_variant,p.%3D,ENST00000399575,;PROL1,non_coding_transcript_exon_variant,,ENST00000514338,;PROL1,non_coding_transcript_exon_variant,,ENST00000505023,;	618	158	123	SUCCESS
HCN1	348980	.	GRCh37	5	45303811	45303811	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	51	105	0	ENST00000303230.4:c.1508T>C	p.Ile503Thr	p.I503T	ENST00000303230	NM_021072.3	503	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3952.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGTATGATA	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Pfam_domain:PF00027,Gene3D:2.60.120.10,PROSITE_patterns:PS00888,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217,PROSITE_profiles:PS50042	.	.	ENSP00000307342	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Ile503Thr,ENST00000303230,;	1566	105	120	SUCCESS
KIF2A	3796	.	GRCh37	5	61669513	61669513	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	60	0	ENST00000401507.3:c.1647-1G>A		p.X549_splice	ENST00000401507	NM_004520.4	549		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47216.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATAGGGTCA	NONE	.	.	.	.	.	ENSP00000385000	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407818	Transcript	1	.	ENSG00000068796	6318	.	.	HIGH	17/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF2A_HUMAN	KIF2A	HGNC	D6RD93_HUMAN	.	UPI0001533DB2	SNV	KIF2A,splice_acceptor_variant,,ENST00000407818,;KIF2A,splice_acceptor_variant,,ENST00000381103,;KIF2A,splice_acceptor_variant,,ENST00000401507,;KIF2A,splice_acceptor_variant,,ENST00000506857,;KIF2A,splice_acceptor_variant,,ENST00000512006,;KIF2A,intron_variant,,ENST00000509663,;	.	60	77	SUCCESS
TRIM23	373	.	GRCh37	5	64920133	64920133	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	18	0	ENST00000231524.9:c.-32A>T		p.*11*	ENST00000231524	NM_001656.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3987.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTTCAGAG	NONE	.	.	.	.	.	ENSP00000231524	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000231524	Transcript	.	.	ENSG00000113595	660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI23_HUMAN	TRIM23	HGNC	D6R9E9_HUMAN	.	UPI0000125DB3	SNV	TRIM23,5_prime_UTR_variant,,ENST00000231524,;TRIM23,5_prime_UTR_variant,,ENST00000513794,;TRAPPC13,upstream_gene_variant,,ENST00000505553,;TRIM23,upstream_gene_variant,,ENST00000381018,;TRAPPC13,upstream_gene_variant,,ENST00000545191,;TRAPPC13,upstream_gene_variant,,ENST00000438419,;TRIM23,upstream_gene_variant,,ENST00000274327,;TRAPPC13,upstream_gene_variant,,ENST00000231526,;CTC-534A2.2,upstream_gene_variant,,ENST00000510585,;TRAPPC13,upstream_gene_variant,,ENST00000399438,;CTC-534A2.2,upstream_gene_variant,,ENST00000514404,;TRIM23,5_prime_UTR_variant,,ENST00000505205,;TRIM23,5_prime_UTR_variant,,ENST00000506400,;TRAPPC13,upstream_gene_variant,,ENST00000512009,;TRAPPC13,upstream_gene_variant,,ENST00000508304,;TRAPPC13,upstream_gene_variant,,ENST00000504751,;	341	18	24	SUCCESS
HMGCR	3156	.	GRCh37	5	74645959	74645959	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	63	138	0	ENST00000287936.4:c.649T>G	p.Ser217Ala	p.S217A	ENST00000287936	NM_000859.2	217	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS4027.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGTCCTTG	NONE	.	.	PROSITE_profiles:PS50156,hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,Gene3D:2j8sB01,Pfam_domain:PF12349,TIGRFAM_domain:TIGR00920,Superfamily_domains:SSF82866	.	.	ENSP00000287936	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000287936	Transcript	1	.	ENSG00000113161	5006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.447)	.	tolerated(0.12)	.	HMDH_HUMAN	HMGCR	HGNC	D6RIW0_HUMAN,C9JKX7_HUMAN	.	UPI000012C9E2	SNV	HMGCR,missense_variant,p.Ser217Ala,ENST00000343975,;HMGCR,missense_variant,p.Ser217Ala,ENST00000287936,;HMGCR,missense_variant,p.Ser217Ala,ENST00000511206,;HMGCR,non_coding_transcript_exon_variant,,ENST00000504466,;HMGCR,upstream_gene_variant,,ENST00000515776,;	805	139	178	SUCCESS
HSPA1L	3305	.	GRCh37	6	31778417	31778417	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	105	214	0	ENST00000375654.4:c.1333T>C	p.Tyr445His	p.Y445H	ENST00000375654	NM_005527.3	445	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS34413.1	1333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATACACCT	NONE	.	.	Superfamily_domains:SSF100920,Pfam_domain:PF00012,Gene3D:2.60.34.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,missense_variant,p.Tyr445His,ENST00000417199,;HSPA1L,missense_variant,p.Tyr445His,ENST00000375654,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000375651,;LSM2,upstream_gene_variant,,ENST00000375661,;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	1523	214	332	SUCCESS
TREML2	79865	.	GRCh37	6	41162310	41162310	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147159415	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	53	115	0	ENST00000483722.1:c.638C>T	p.Ala213Val	p.A213V	ENST00000483722	NM_024807.2	213	gCg/gTg	0	A:0.0007	A:0.0008	.	A:0	.	A	A/V	protein_coding	YES	CCDS4853.2	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGCGGTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF3	A:0	A:0	ENSP00000418767	A:0	3/5	.	.	.	.	.	.	.	.	rs147159415	3/5	PASS	ENST00000483722	Transcript	.	A:0.0002	ENSG00000112195	21092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	A:0	tolerated(1)	.	TRML2_HUMAN	TREML2	HGNC	.	.	UPI0000074452	SNV	TREML2,missense_variant,p.Ala213Val,ENST00000483722,;	824	115	207	SUCCESS
TRERF1	55809	.	GRCh37	6	42227243	42227243	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	46	0	ENST00000372922.4:c.2103C>A	p.Pro701=	p.P701=	ENST00000372922	NM_033502.2	701	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4867.1	2103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGGGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,synonymous_variant,p.%3D,ENST00000541110,;TRERF1,synonymous_variant,p.%3D,ENST00000340840,;TRERF1,synonymous_variant,p.%3D,ENST00000372922,;TRERF1,synonymous_variant,p.%3D,ENST00000372917,;TRERF1,synonymous_variant,p.%3D,ENST00000354325,;	2666	46	133	SUCCESS
TRERF1	55809	.	GRCh37	6	42227244	42227244	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	50	45	0	ENST00000372922.4:c.2102C>A	p.Pro701His	p.P701H	ENST00000372922	NM_033502.2	701	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4867.1	2102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	tolerated(0.07)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Pro721His,ENST00000541110,;TRERF1,missense_variant,p.Pro618His,ENST00000340840,;TRERF1,missense_variant,p.Pro701His,ENST00000372922,;TRERF1,missense_variant,p.Pro618His,ENST00000372917,;TRERF1,missense_variant,p.Pro618His,ENST00000354325,;	2665	45	134	SUCCESS
OFCC1	266553	.	GRCh37	6	9897068	9897068	+	intron_variant	Intron	SNP	C	C	T	rs200104343	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	31	82	0	ENST00000460363.2:c.343+11683G>A		p.*115*	ENST00000460363				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCGACAC	NONE	byCluster	.	.	.	.	ENSP00000419718	.	.	.	.	.	.	.	.	.	.	rs200104343	.	PASS	ENST00000460363	Transcript	.	.	ENSG00000181355	21017	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OFCC1	HGNC	Q8IZS0_HUMAN	.	UPI00000740B8	SNV	OFCC1,3_prime_UTR_variant,,ENST00000316020,;OFCC1,intron_variant,,ENST00000492169,;OFCC1,intron_variant,,ENST00000460363,;OFCC1,downstream_gene_variant,,ENST00000491508,;OFCC1,non_coding_transcript_exon_variant,,ENST00000472329,;OFCC1,intron_variant,,ENST00000460066,;OFCC1,downstream_gene_variant,,ENST00000466385,;OFCC1,intron_variant,,ENST00000486246,;OFCC1,intron_variant,,ENST00000487015,;OFCC1,intron_variant,,ENST00000492094,;OFCC1,intron_variant,,ENST00000469656,;OFCC1,intron_variant,,ENST00000469426,;	.	82	101	SUCCESS
TNRC18	84629	.	GRCh37	7	5355649	5355649	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	58	0	ENST00000430969.1:c.6800G>C	p.Gly2267Ala	p.G2267A	ENST00000430969	NM_001080495.2	2267	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS47534.1	6800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCCGTCG	NONE	.	.	hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,missense_variant,p.Gly81Ala,ENST00000328270,;TNRC18,missense_variant,p.Gly2267Ala,ENST00000430969,;TNRC18,missense_variant,p.Gly2267Ala,ENST00000399537,;TNRC18,downstream_gene_variant,,ENST00000464852,;	7149	58	58	SUCCESS
STAG3L4	64940	.	GRCh37	7	66785160	66785160	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	68	0	ENST00000416602.2:n.790A>T		p.*264*	ENST00000416602				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAAGAGC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000416602	Transcript	.	.	ENSG00000106610	33887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	STAG3L4	HGNC	.	.	.	SNV	STAG3L4,non_coding_transcript_exon_variant,,ENST00000416602,;	790	68	76	SUCCESS
TMEM130	222865	.	GRCh37	7	98460878	98460878	+	synonymous_variant	Silent	SNP	G	G	T	rs1361450492	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	68	0	ENST00000416379.2:c.231C>A	p.Thr77=	p.T77=	ENST00000416379		77	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47650.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGGGTGTG	NONE	.	.	hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF10	.	.	ENSP00000413163	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000416379	Transcript	.	.	ENSG00000166448	25429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM130_HUMAN	TMEM130	HGNC	C9JQV5_HUMAN	.	UPI000006EF2E	SNV	TMEM130,synonymous_variant,p.%3D,ENST00000416379,;TMEM130,synonymous_variant,p.%3D,ENST00000546258,;TMEM130,synonymous_variant,p.%3D,ENST00000339375,;TMEM130,5_prime_UTR_variant,,ENST00000445790,;TMEM130,5_prime_UTR_variant,,ENST00000450876,;TMEM130,intron_variant,,ENST00000345589,;TMEM130,non_coding_transcript_exon_variant,,ENST00000486839,;TMEM130,intron_variant,,ENST00000461092,;	236	68	86	SUCCESS
UBR5	51366	.	GRCh37	8	103300480	103300480	+	synonymous_variant	Silent	SNP	C	C	T	rs1471225051	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	31	68	0	ENST00000520539.1:c.4728G>A	p.Glu1576=	p.E1576=	ENST00000520539	NM_015902.5	1576	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34933.1	4728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCCTCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254	.	.	ENSP00000429084	.	36/59	.	.	.	.	.	.	.	.	.	36/59	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,synonymous_variant,p.%3D,ENST00000520539,;UBR5,synonymous_variant,p.%3D,ENST00000220959,;UBR5,synonymous_variant,p.%3D,ENST00000521922,;UBR5,non_coding_transcript_exon_variant,,ENST00000519528,;	5335	68	125	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110457871	110457871	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	52	0	ENST00000378402.5:c.5773A>G	p.Arg1925Gly	p.R1925G	ENST00000378402	NM_177531.4	1925	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS47911.1	5773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCAGAGGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	38/78	.	.	.	.	.	.	.	.	.	38/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.38)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Arg1925Gly,ENST00000378402,;	5877	52	78	SUCCESS
SYBU	55638	.	GRCh37	8	110655201	110655201	+	intron_variant	Intron	SNP	C	C	T	rs372685684	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	26	0	ENST00000276646.9:c.25-40G>A		p.*9*	ENST00000276646	NM_001099754.1			0	G:0	.	.	.	.	T	.	protein_coding	YES	CCDS47912.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACGCGTTTC	NONE	byFrequency|byCluster	.	.	.	G:0.0001	ENSP00000407118	.	.	.	.	.	.	.	.	.	.	rs372685684	.	PASS	ENST00000422135	Transcript	.	.	ENSG00000147642	26011	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYBU_HUMAN	SYBU	HGNC	E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN	.	UPI00000407AB	SNV	SYBU,5_prime_UTR_variant,,ENST00000399066,;SYBU,intron_variant,,ENST00000422135,;SYBU,intron_variant,,ENST00000532779,;SYBU,intron_variant,,ENST00000534578,;SYBU,intron_variant,,ENST00000424158,;SYBU,intron_variant,,ENST00000527600,;SYBU,intron_variant,,ENST00000533821,;SYBU,intron_variant,,ENST00000528569,;SYBU,intron_variant,,ENST00000408908,;SYBU,intron_variant,,ENST00000528045,;SYBU,intron_variant,,ENST00000528331,;SYBU,intron_variant,,ENST00000408889,;SYBU,intron_variant,,ENST00000526302,;SYBU,intron_variant,,ENST00000524720,;SYBU,intron_variant,,ENST00000534501,;SYBU,intron_variant,,ENST00000419099,;SYBU,intron_variant,,ENST00000528647,;SYBU,intron_variant,,ENST00000533171,;SYBU,intron_variant,,ENST00000532189,;SYBU,intron_variant,,ENST00000433638,;SYBU,intron_variant,,ENST00000440310,;SYBU,intron_variant,,ENST00000533065,;SYBU,intron_variant,,ENST00000529190,;SYBU,intron_variant,,ENST00000446070,;SYBU,intron_variant,,ENST00000534184,;SYBU,intron_variant,,ENST00000530841,;SYBU,intron_variant,,ENST00000531230,;SYBU,intron_variant,,ENST00000276646,;SYBU,intron_variant,,ENST00000533895,;SYBU,intron_variant,,ENST00000528716,;RP11-422N16.3,upstream_gene_variant,,ENST00000499579,;SYBU,intron_variant,,ENST00000527664,;SYBU,intron_variant,,ENST00000531284,;	.	26	40	SUCCESS
KCNK9	51305	.	GRCh37	8	140631049	140631049	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	83	0	ENST00000303015.1:c.577T>C	p.Cys193Arg	p.C193R	ENST00000303015	NM_016601.2	193	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS6377.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAGTAGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,Pfam_domain:PF07885,Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324	.	.	ENSP00000430676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000520439	Transcript	1	.	ENSG00000169427	6283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	KCNK9_HUMAN	KCNK9	HGNC	.	.	UPI000000D8AC	SNV	KCNK9,missense_variant,p.Cys193Arg,ENST00000520439,;KCNK9,missense_variant,p.Cys193Arg,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Cys193Arg,ENST00000522317,;	641	83	125	SUCCESS
TIGD5	84948	.	GRCh37	8	144680963	144680963	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	9	0	ENST00000321385.3:c.743T>G	p.Leu248Arg	p.L248R	ENST00000321385		248	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS6406.2	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTGCCGG	NONE	.	.	hmmpanther:PTHR19303:SF210,hmmpanther:PTHR19303,Pfam_domain:PF03184	.	.	ENSP00000421489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504548	Transcript	.	.	ENSG00000179886	18336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.03)	.	TIGD5_HUMAN	TIGD5	HGNC	.	.	UPI0001BAE24C	SNV	TIGD5,missense_variant,p.Leu297Arg,ENST00000504548,;TIGD5,missense_variant,p.Leu248Arg,ENST00000321385,;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,;EEF1D,upstream_gene_variant,,ENST00000528610,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000419152,;EEF1D,upstream_gene_variant,,ENST00000526838,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000395119,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000317198,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000442189,;RP11-661A12.14,upstream_gene_variant,,ENST00000606452,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;	890	9	32	SUCCESS
EPPK1	83481	.	GRCh37	8	144944633	144944633	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	12	0	ENST00000525985.1:c.2789G>A	p.Gly930Glu	p.G930E	ENST00000525985	NM_031308.2	930	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	.	2789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCCAGG	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.Gly930Glu,ENST00000525985,;	2861	12	30	SUCCESS
MROH1	727957	.	GRCh37	8	145255353	145255353	+	synonymous_variant	Silent	SNP	A	A	G	rs144186714	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	44	0	ENST00000326134.5:c.1050A>G	p.Leu350=	p.L350=	ENST00000326134		350	ctA/ctG	0	G:0.0007	G:0.0015	.	G:0	.	G	L	protein_coding	YES	CCDS47938.1	1050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTACTGGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	G:0	G:0	ENSP00000435565	G:0	11/43	.	.	.	.	.	.	.	.	rs144186714	11/43	PASS	ENST00000528919	Transcript	.	G:0.0004	ENSG00000179832	26958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	MROH1_HUMAN	MROH1	HGNC	.	.	UPI0001AE6FA6	SNV	MROH1,synonymous_variant,p.%3D,ENST00000534366,;MROH1,synonymous_variant,p.%3D,ENST00000398656,;MROH1,synonymous_variant,p.%3D,ENST00000423230,;MROH1,synonymous_variant,p.%3D,ENST00000528919,;MROH1,synonymous_variant,p.%3D,ENST00000326134,;MROH1,non_coding_transcript_exon_variant,,ENST00000527071,;MROH1,non_coding_transcript_exon_variant,,ENST00000532255,;MROH1,non_coding_transcript_exon_variant,,ENST00000527552,;MROH1,non_coding_transcript_exon_variant,,ENST00000534508,;	1171	44	52	SUCCESS
NEFL	4747	.	GRCh37	8	24811079	24811079	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	23	48	0	ENST00000221169.5:n.1995A>T		p.*665*	ENST00000221169				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTTGGCT	NONE	.	3056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000607735	Transcript	.	.	ENSG00000272157	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CTD-2168K21.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2168K21.2,upstream_gene_variant,,ENST00000607735,;NEFL,non_coding_transcript_exon_variant,,ENST00000221169,;	.	48	29	SUCCESS
KCNB2	9312	.	GRCh37	8	73849087	73849087	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	17	0	ENST00000523207.1:c.1497G>A	p.Leu499=	p.L499=	ENST00000523207	NM_004770.2	499	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6209.1	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGTCGGA	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Pfam_domain:PF03521	.	.	ENSP00000430846	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,synonymous_variant,p.%3D,ENST00000523207,;	2085	17	46	SUCCESS
HNF4G	3174	.	GRCh37	8	76456117	76456118	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	ACAGAGC	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	46	0	ENST00000354370.1:c.51_57dup	p.Thr20GlnfsTer13	p.T20Qfs*13	ENST00000354370		17	gac/gACAGAGCac	0	.	.	.	.	.	ACAGAGC	D/DRAX	protein_coding	YES	CCDS6220.2	160-161	INDELOCATOR|VARSCANI	.	GTGGGGACAGA	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000379701	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000396423	Transcript	.	.	ENSG00000164749	5026	8	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HNF4G_HUMAN	HNF4G	HGNC	F1D8Q4_HUMAN	.	UPI0000D47E07	insertion	HNF4G,frameshift_variant,p.Thr57GlnfsTer13,ENST00000396423,;HNF4G,frameshift_variant,p.Thr20GlnfsTer13,ENST00000354370,;HNF4G,intron_variant,,ENST00000396419,;	284-285	46	109	SUCCESS
RIPK2	8767	.	GRCh37	8	90801575	90801575	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	65	1	ENST00000220751.4:c.1150A>G	p.Lys384Glu	p.K384E	ENST00000220751	NM_003821.5	384	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6247.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGAAGCTG	NONE	.	.	PIRSF_domain:PIRSF037921,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF323	.	.	ENSP00000220751	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000220751	Transcript	.	.	ENSG00000104312	10020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.87)	.	RIPK2_HUMAN	RIPK2	HGNC	.	.	UPI00001338F2	SNV	RIPK2,missense_variant,p.Lys247Glu,ENST00000540020,;RIPK2,missense_variant,p.Lys384Glu,ENST00000220751,;RIPK2,3_prime_UTR_variant,,ENST00000522965,;	1464	66	103	SUCCESS
LCN2	3934	.	GRCh37	9	130911936	130911936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	64	0	ENST00000277480.2:c.132C>A	p.Asp44Glu	p.D44E	ENST00000277480	NM_005564.3	44	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS6892.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACAACCA	NONE	.	.	hmmpanther:PTHR11430:SF13,hmmpanther:PTHR11430,PROSITE_patterns:PS00213,Gene3D:2.40.128.20,Superfamily_domains:SSF50814	.	.	ENSP00000362108	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373017	Transcript	.	.	ENSG00000148346	6526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.3)	.	NGAL_HUMAN	LCN2	HGNC	.	.	UPI000012FFEF	SNV	LCN2,missense_variant,p.Asp44Glu,ENST00000373013,;LCN2,missense_variant,p.Asp44Glu,ENST00000373017,;LCN2,missense_variant,p.Asp44Glu,ENST00000277480,;LCN2,missense_variant,p.Asp44Glu,ENST00000540948,;LCN2,missense_variant,p.Asp44Glu,ENST00000372998,;LCN2,non_coding_transcript_exon_variant,,ENST00000470902,;LCN2,upstream_gene_variant,,ENST00000494317,;LCN2,non_coding_transcript_exon_variant,,ENST00000487719,;LCN2,upstream_gene_variant,,ENST00000488391,;	369	64	69	SUCCESS
SARDH	1757	.	GRCh37	9	136578161	136578161	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	24	0	ENST00000371872.4:c.1236A>G		p.X412_splice	ENST00000371872	NM_007101.3	412	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6978.1	1236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTGCGCT	NONE	.	.	hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18,Pfam_domain:PF01266,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000360938	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000371872	Transcript	.	.	ENSG00000123453	10536	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SARDH_HUMAN	SARDH	HGNC	Q5SYV1_HUMAN,B4DPI2_HUMAN	.	UPI000006F076	SNV	SARDH,synonymous_variant,p.%3D,ENST00000439388,;SARDH,synonymous_variant,p.%3D,ENST00000371872,;SARDH,synonymous_variant,p.%3D,ENST00000427237,;SARDH,synonymous_variant,p.%3D,ENST00000422262,;	1494	24	35	SUCCESS
CCIN	881	.	GRCh37	9	36169807	36169807	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	97	0	ENST00000335119.2:c.308A>T	p.Glu103Val	p.E103V	ENST00000335119	NM_005893.2	103	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6599.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGAGCTGC	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF163	.	.	ENSP00000334996	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335119	Transcript	.	.	ENSG00000185972	1568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.179)	.	deleterious(0.01)	.	CALI_HUMAN	CCIN	HGNC	Q8WX35_HUMAN	.	UPI000006EB8E	SNV	CCIN,missense_variant,p.Glu103Val,ENST00000335119,;	419	97	112	SUCCESS
SPATA31D3	389762	.	GRCh37	9	84564505	84564505	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	14	0	ENST00000334208.4:n.4364T>C		p.*1455*	ENST00000334208				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTCCCCA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000592744,;RP11-383M4.6,intron_variant,,ENST00000585776,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000334208,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000445385,;	.	14	25	SUCCESS
KIF27	55582	.	GRCh37	9	86504072	86504072	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763998301	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	56	122	1	ENST00000297814.2:c.1906A>G	p.Lys636Glu	p.K636E	ENST00000297814	NM_017576.2	636	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS6665.1	1906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTTATCTT	NONE	.	.	hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115	.	.	ENSP00000297814	.	7/18	.	.	.	.	.	.	.	.	rs763998301	7/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,missense_variant,p.Lys636Glu,ENST00000413982,;KIF27,missense_variant,p.Lys27Glu,ENST00000376347,;KIF27,missense_variant,p.Lys636Glu,ENST00000334204,;KIF27,missense_variant,p.Lys636Glu,ENST00000297814,;	2050	123	156	SUCCESS
YY2	404281	.	GRCh37	X	21875262	21875262	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	80	0	ENST00000429584.2:c.660T>A	p.Pro220=	p.P220=	ENST00000429584	NM_206923.3	220	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14202.1	660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14003:SF9,hmmpanther:PTHR14003,PIRSF_domain:PIRSF037113	.	.	ENSP00000389381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000429584	Transcript	.	.	ENSG00000230797	31684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYY2_HUMAN	YY2	HGNC	.	.	UPI000006CE0D	SNV	YY2,synonymous_variant,p.%3D,ENST00000429584,;MBTPS2,intron_variant,,ENST00000365779,;MBTPS2,intron_variant,,ENST00000379484,;MBTPS2,non_coding_transcript_exon_variant,,ENST00000465888,;	1158	80	101	SUCCESS
RLIM	51132	.	GRCh37	X	73814206	73814206	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	33	88	0	ENST00000332687.6:c.188A>T	p.Glu63Val	p.E63V	ENST00000332687	NM_016120.3	63	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS14427.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTCTTCC	NONE	.	.	hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	.	.	ENSP00000328059	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000332687	Transcript	.	.	ENSG00000131263	13429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	RNF12_HUMAN	RLIM	HGNC	.	.	UPI000006FD6A	SNV	RLIM,missense_variant,p.Glu63Val,ENST00000349225,;RLIM,missense_variant,p.Glu63Val,ENST00000332687,;	407	88	101	SUCCESS
ATRX	546	.	GRCh37	X	76856034	76856034	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	83	0	ENST00000373344.5:c.5567-1G>A		p.X1856_splice	ENST00000373344	NM_000489.3	1856		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14434.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCTGATC	NONE	.	.	.	.	.	ENSP00000362441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	HIGH	22/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,splice_acceptor_variant,,ENST00000395603,;ATRX,splice_acceptor_variant,,ENST00000373344,;ATRX,splice_acceptor_variant,,ENST00000480283,;ATRX,non_coding_transcript_exon_variant,,ENST00000479487,;	.	83	96	SUCCESS
PCDH11X	27328	.	GRCh37	X	91133110	91133110	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	73	183	0	ENST00000373094.1:c.1871T>A	p.Val624Asp	p.V624D	ENST00000373094	NM_032968.3	624	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS14461.1	1871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTCATCC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Val624Asp,ENST00000373088,;PCDH11X,missense_variant,p.Val624Asp,ENST00000361724,;PCDH11X,missense_variant,p.Val624Asp,ENST00000395337,;PCDH11X,missense_variant,p.Val624Asp,ENST00000298274,;PCDH11X,missense_variant,p.Val624Asp,ENST00000504220,;PCDH11X,missense_variant,p.Val624Asp,ENST00000406881,;PCDH11X,missense_variant,p.Val624Asp,ENST00000373094,;PCDH11X,missense_variant,p.Val624Asp,ENST00000373097,;PCDH11X,missense_variant,p.Val624Asp,ENST00000361655,;	2716	183	200	SUCCESS
EXOC6	54536	.	GRCh37	10	94733850	94733850	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	30	80	1	ENST00000260762.6:c.1814T>C	p.Leu605Pro	p.L605P	ENST00000260762	NM_019053.4	605	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS7424.2	1814	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAAACTGAATC	NONE	.	.	hmmpanther:PTHR12702:SF2,hmmpanther:PTHR12702,Pfam_domain:PF04091,PIRSF_domain:PIRSF025007	.	.	ENSP00000260762	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000260762	Transcript	.	.	ENSG00000138190	23196	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	EXOC6_HUMAN	EXOC6	HGNC	Q9NTA6_HUMAN,H0Y5J8_HUMAN,B1AP46_HUMAN	.	UPI0000141914	SNV	EXOC6,missense_variant,p.Leu605Pro,ENST00000260762,;EXOC6,missense_variant,p.Leu621Pro,ENST00000371547,;EXOC6,missense_variant,p.Leu502Pro,ENST00000443748,;EXOC6,missense_variant,p.Leu600Pro,ENST00000371552,;EXOC6,missense_variant,p.Leu282Pro,ENST00000495132,;	1828	82	33	SUCCESS
MYOF	26509	.	GRCh37	10	95111015	95111015	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs553662967	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	184	0	ENST00000359263.4:c.3860C>T	p.Ala1287Val	p.A1287V	ENST00000359263	NM_013451.3	1287	gCg/gTg	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS41551.1	3860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCGCCCTT	NONE	by1000G	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38	A:0	.	ENSP00000352208	A:0	35/54	.	.	.	.	.	.	.	.	rs553662967	35/54	PASS	ENST00000359263	Transcript	.	A:0.0002	ENSG00000138119	3656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.533)	A:0.001	tolerated(0.19)	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,missense_variant,p.Ala1287Val,ENST00000371502,;MYOF,missense_variant,p.Ala1274Val,ENST00000358334,;MYOF,missense_variant,p.Ala1287Val,ENST00000371501,;MYOF,missense_variant,p.Ala1287Val,ENST00000359263,;MYOF,missense_variant,p.Ala662Val,ENST00000463743,;	3860	184	64	SUCCESS
B4GALNT4	338707	.	GRCh37	11	373809	373809	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144647644	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	89	0	ENST00000329962.6:c.764C>T	p.Ser255Leu	p.S255L	ENST00000329962	NM_178537.4	255	tCg/tTg	0	T:0.0005	.	.	.	.	T	S/L	protein_coding	YES	CCDS7694.1	764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTCGGACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12369:SF9,hmmpanther:PTHR12369,Pfam_domain:PF07691,Gene3D:1accA01,SMART_domains:SM00758	.	T:0	ENSP00000328277	.	8/20	.	.	.	.	.	.	.	.	rs144647644	8/20	PASS	ENST00000329962	Transcript	.	.	ENSG00000182272	26315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	B4GN4_HUMAN	B4GALNT4	HGNC	.	.	UPI00002326B6	SNV	B4GALNT4,missense_variant,p.Ser255Leu,ENST00000329962,;B4GALNT4,downstream_gene_variant,,ENST00000530717,;B4GALNT4,upstream_gene_variant,,ENST00000524443,;	764	89	34	SUCCESS
OR9G1	390174	.	GRCh37	11	56468748	56468748	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	46	0	ENST00000312153.1:c.885T>C	p.Asp295=	p.D295=	ENST00000312153	NM_001005213.1	295	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS31536.1	885	MUTECT|MUSE|VARSCANS	.	AAGGATGTGAA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,synonymous_variant,p.%3D,ENST00000312153,;	885	46	31	SUCCESS
ZDHHC5	25921	.	GRCh37	11	57466587	57466587	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772341043	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	81	0	ENST00000287169.3:c.1679G>T	p.Arg560Leu	p.R560L	ENST00000287169	NM_015457.2	560	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7965.1	1679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGTGAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12349,hmmpanther:PTHR12349:SF3	.	.	ENSP00000287169	.	11/12	.	.	.	.	.	.	.	.	rs772341043	11/12	PASS	ENST00000287169	Transcript	.	.	ENSG00000156599	18472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.06)	.	ZDHC5_HUMAN	ZDHHC5	HGNC	E9PMA5_HUMAN,E9PJ97_HUMAN	.	UPI0000049DA3	SNV	ZDHHC5,missense_variant,p.Arg560Leu,ENST00000287169,;ZDHHC5,missense_variant,p.Arg507Leu,ENST00000527985,;MED19,downstream_gene_variant,,ENST00000337672,;MED19,downstream_gene_variant,,ENST00000431606,;ZDHHC5,downstream_gene_variant,,ENST00000529447,;ZDHHC5,non_coding_transcript_exon_variant,,ENST00000529480,;	3041	81	53	SUCCESS
NUMA1	4926	.	GRCh37	11	71715142	71715151	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CAGCCTGCAA	CAGCCTGCAA	-	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	CAGCCTGCAA	CAGCCTGCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	54	0	ENST00000393695.3:c.6124-6_6127del		p.X2042_splice	ENST00000393695	NM_006185.2	2042		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31633.1	?-6127	VARSCANI*|PINDEL	.	GCCGGTCAGCCTGCAAGGAAG	NONE	.	.	.	.	.	ENSP00000377298	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000393695	Transcript	.	.	ENSG00000137497	8059	.	.	HIGH	25/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUMA1_HUMAN	NUMA1	HGNC	Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN	.	UPI000013DB8B	deletion	NUMA1,splice_acceptor_variant,,ENST00000393695,;NUMA1,splice_acceptor_variant,,ENST00000541584,;NUMA1,splice_acceptor_variant,,ENST00000351960,;NUMA1,splice_acceptor_variant,,ENST00000358965,;IL18BP,downstream_gene_variant,,ENST00000393705,;IL18BP,downstream_gene_variant,,ENST00000393707,;IL18BP,downstream_gene_variant,,ENST00000497194,;IL18BP,downstream_gene_variant,,ENST00000404792,;IL18BP,downstream_gene_variant,,ENST00000260049,;IL18BP,downstream_gene_variant,,ENST00000531053,;IL18BP,downstream_gene_variant,,ENST00000393703,;IL18BP,downstream_gene_variant,,ENST00000337131,;IL18BP,downstream_gene_variant,,ENST00000531777,;NUMA1,downstream_gene_variant,,ENST00000541262,;IL18BP,downstream_gene_variant,,ENST00000414358,;IL18BP,downstream_gene_variant,,ENST00000525932,;NUMA1,splice_acceptor_variant,,ENST00000540626,;IL18BP,intron_variant,,ENST00000343898,;NUMA1,downstream_gene_variant,,ENST00000545721,;NUMA1,downstream_gene_variant,,ENST00000546036,;IL18BP,downstream_gene_variant,,ENST00000534583,;	?-6459	54	32	SUCCESS
PRCP	5547	.	GRCh37	11	82571056	82571056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	134	0	ENST00000313010.3:c.272G>T	p.Gly91Val	p.G91V	ENST00000313010	NM_005040.2	91	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41695.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTACCAGTG	NONE	.	.	hmmpanther:PTHR11010:SF11,hmmpanther:PTHR11010,Pfam_domain:PF05577,Gene3D:3.40.50.1820	.	.	ENSP00000377055	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000393399	Transcript	.	.	ENSG00000137509	9344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCP_HUMAN	PRCP	HGNC	E9PR42_HUMAN,E9PQN3_HUMAN,E9PQB5_HUMAN,E9PLY4_HUMAN,E9PL85_HUMAN,E9PL49_HUMAN,E9PKN6_HUMAN,E9PIG4_HUMAN,B7Z7Q6_HUMAN,B3KR26_HUMAN	.	UPI00001FB052	SNV	PRCP,missense_variant,p.Gly50Val,ENST00000529671,;PRCP,missense_variant,p.Gly112Val,ENST00000393399,;PRCP,missense_variant,p.Gly91Val,ENST00000313010,;PRCP,missense_variant,p.Gly37Val,ENST00000532809,;PRCP,5_prime_UTR_variant,,ENST00000528082,;PRCP,5_prime_UTR_variant,,ENST00000533126,;PRCP,5_prime_UTR_variant,,ENST00000531801,;PRCP,5_prime_UTR_variant,,ENST00000527444,;PRCP,5_prime_UTR_variant,,ENST00000534396,;PRCP,intron_variant,,ENST00000534631,;PRCP,intron_variant,,ENST00000531128,;PRCP,intron_variant,,ENST00000535099,;PRCP,upstream_gene_variant,,ENST00000534264,;	363	134	109	SUCCESS
CACNA1C	775	.	GRCh37	12	2229596	2229596	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs1243683248	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	74	199	2	ENST00000347598.4:c.477G>T		p.X159_splice	ENST00000347598	NM_199460.2	159	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44788.1	477	RADIA|SOMATICSNIPER|VARSCANS	.	AACCTGGTAAG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR01630	.	.	ENSP00000266376	.	3/49	.	.	.	.	.	.	.	.	.	3/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,synonymous_variant,p.%3D,ENST00000399644,;CACNA1C,synonymous_variant,p.%3D,ENST00000399595,;CACNA1C,synonymous_variant,p.%3D,ENST00000406454,;CACNA1C,synonymous_variant,p.%3D,ENST00000399617,;CACNA1C,synonymous_variant,p.%3D,ENST00000347598,;CACNA1C,synonymous_variant,p.%3D,ENST00000402845,;CACNA1C,synonymous_variant,p.%3D,ENST00000327702,;CACNA1C,synonymous_variant,p.%3D,ENST00000399634,;CACNA1C,synonymous_variant,p.%3D,ENST00000399641,;CACNA1C,synonymous_variant,p.%3D,ENST00000399603,;CACNA1C,synonymous_variant,p.%3D,ENST00000399629,;CACNA1C,synonymous_variant,p.%3D,ENST00000480911,;CACNA1C,synonymous_variant,p.%3D,ENST00000399601,;CACNA1C,synonymous_variant,p.%3D,ENST00000399597,;CACNA1C,synonymous_variant,p.%3D,ENST00000399655,;CACNA1C,synonymous_variant,p.%3D,ENST00000399606,;CACNA1C,synonymous_variant,p.%3D,ENST00000399637,;CACNA1C,synonymous_variant,p.%3D,ENST00000335762,;CACNA1C,synonymous_variant,p.%3D,ENST00000399621,;CACNA1C,synonymous_variant,p.%3D,ENST00000399638,;CACNA1C,synonymous_variant,p.%3D,ENST00000399591,;CACNA1C,synonymous_variant,p.%3D,ENST00000344100,;CACNA1C,synonymous_variant,p.%3D,ENST00000399649,;	477	201	87	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42853904	42853904	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	82	0	ENST00000345127.3:c.2203G>A	p.Ala735Thr	p.A735T	ENST00000345127	NM_153026.2	735	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8742.1	2203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCGTACT	NONE	.	.	hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14	.	.	ENSP00000401060	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.08)	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,missense_variant,p.Ala735Thr,ENST00000345127,;PRICKLE1,missense_variant,p.Ala735Thr,ENST00000552240,;PRICKLE1,missense_variant,p.Ala735Thr,ENST00000455697,;PRICKLE1,missense_variant,p.Ala735Thr,ENST00000445766,;PRICKLE1,missense_variant,p.Ala735Thr,ENST00000548696,;PPHLN1,downstream_gene_variant,,ENST00000317560,;RP11-328C8.4,non_coding_transcript_exon_variant,,ENST00000547824,;	2489	82	71	SUCCESS
DCLK1	9201	.	GRCh37	13	36700222	36700222	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1340568626	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	17	59	0	ENST00000360631.3:c.53C>T	p.Ala18Val	p.A18V	ENST00000360631		18	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9354.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGCCTTA	SITE|p.A18V|c.53C>T|3,SITE|p.A18V|c.53C>T|3	.	.	hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347	.	.	ENSP00000255448	.	2/18	.	.	.	.	.	.	.	.	COSM1203126,COSM1203125,COSM3987380	2/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	unknown(0)	.	tolerated_low_confidence(0.58)	1,1,1	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,missense_variant,p.Ala18Val,ENST00000360631,;DCLK1,missense_variant,p.Ala18Val,ENST00000255448,;DCLK1,missense_variant,p.Ala18Val,ENST00000379892,;	265	59	20	SUCCESS
IGHV3-73	28409	.	GRCh37	14	107211227	107211227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	94	0	ENST00000390636.2:c.62T>A	p.Val21Glu	p.V21E	ENST00000390636		21	gTg/gAg	0	.	.	.	.	.	T	V/E	IG_V_gene	YES	.	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCACCTCA	NONE	.	.	hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000375045	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390636	Transcript	.	.	ENSG00000211976	5623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	tolerated_low_confidence(0.07)	.	.	IGHV3-73	HGNC	.	.	UPI0000113A21	SNV	IGHV3-73,missense_variant,p.Val21Glu,ENST00000390636,;	142	94	67	SUCCESS
PRKD1	5587	.	GRCh37	14	30066720	30066720	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	79	0	ENST00000331968.5:c.2411C>A	p.Pro804His	p.P804H	ENST00000331968	NM_002742.2	804	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS9637.1	2411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGGATTT	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000552,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR22968,PROSITE_profiles:PS50011	.	.	ENSP00000333568	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000331968	Transcript	.	.	ENSG00000184304	9407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KPCD1_HUMAN	PRKD1	HGNC	Q1KKQ2_HUMAN	.	UPI0000456761	SNV	PRKD1,missense_variant,p.Pro812His,ENST00000415220,;PRKD1,missense_variant,p.Pro804His,ENST00000331968,;PRKD1,missense_variant,p.Pro52His,ENST00000490795,;	2641	79	70	SUCCESS
TRPM1	4308	.	GRCh37	15	31294718	31294718	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	47	0	ENST00000397795.2:c.4119A>T	p.Lys1373Asn	p.K1373N	ENST00000397795	NM_002420.5	1373	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS58347.1	4236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTTTTT	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.48)	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,missense_variant,p.Lys1373Asn,ENST00000558445,;TRPM1,missense_variant,p.Lys1412Asn,ENST00000542188,;TRPM1,missense_variant,p.Lys1297Asn,ENST00000558768,;TRPM1,missense_variant,p.Lys1395Asn,ENST00000256552,;TRPM1,missense_variant,p.Lys1373Asn,ENST00000397795,;TRPM1,missense_variant,p.Lys488Asn,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	4550	47	37	SUCCESS
EMC7	56851	.	GRCh37	15	34393819	34393819	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	123	0	ENST00000256545.4:c.222C>G	p.His74Gln	p.H74Q	ENST00000256545	NM_020154.2	74	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS10032.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACGTGCTC	NONE	.	.	hmmpanther:PTHR13605,Pfam_domain:PF09430,Gene3D:2.60.40.1120,Superfamily_domains:SSF49452	.	.	ENSP00000256545	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000256545	Transcript	.	.	ENSG00000134153	24301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	tolerated(0.14)	.	EMC7_HUMAN	EMC7	HGNC	.	.	UPI0000038A04	SNV	EMC7,missense_variant,p.His74Gln,ENST00000256545,;EMC7,missense_variant,p.His64Gln,ENST00000527822,;EMC7,intron_variant,,ENST00000528949,;PGBD4,upstream_gene_variant,,ENST00000397766,;EMC7,non_coding_transcript_exon_variant,,ENST00000532113,;	331	123	72	SUCCESS
LCMT2	9836	.	GRCh37	15	43622043	43622043	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	49	223	0	ENST00000305641.5:c.645C>G	p.Phe215Leu	p.F215L	ENST00000305641	NM_014793.4	215	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS10094.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGAAAAG	NONE	.	.	hmmpanther:PTHR13600,hmmpanther:PTHR13600:SF2,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000307214	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305641	Transcript	.	.	ENSG00000168806	17558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	deleterious(0)	.	LCMT2_HUMAN	LCMT2	HGNC	B4DUW3_HUMAN	.	UPI00000727F6	SNV	LCMT2,missense_variant,p.Phe215Leu,ENST00000305641,;LCMT2,intron_variant,,ENST00000544735,;LCMT2,intron_variant,,ENST00000567039,;ADAL,upstream_gene_variant,,ENST00000428046,;ADAL,upstream_gene_variant,,ENST00000389651,;ADAL,upstream_gene_variant,,ENST00000422466,;ADAL,upstream_gene_variant,,ENST00000563551,;ADAL,upstream_gene_variant,,ENST00000565555,;	761	223	89	SUCCESS
TLE3	7090	.	GRCh37	15	70371710	70371710	+	intron_variant	Intron	SNP	C	C	A	rs766540155	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	47	206	0	ENST00000558939.1:c.235-3213G>T		p.*79*	ENST00000558939	NM_001282979.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45293.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCAGGCA	NONE	byFrequency	.	.	.	.	ENSP00000452871	.	.	.	.	.	.	.	.	.	.	rs766540155	.	PASS	ENST00000558939	Transcript	.	.	ENSG00000140332	11839	.	.	MODIFIER	4/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE3_HUMAN	TLE3	HGNC	H0YNT2_HUMAN	.	UPI000013703A	SNV	TLE3,intron_variant,,ENST00000558201,;TLE3,intron_variant,,ENST00000539550,;TLE3,intron_variant,,ENST00000557997,;TLE3,intron_variant,,ENST00000559929,;TLE3,intron_variant,,ENST00000557984,;TLE3,intron_variant,,ENST00000442299,;TLE3,intron_variant,,ENST00000560939,;TLE3,intron_variant,,ENST00000560589,;TLE3,intron_variant,,ENST00000451782,;TLE3,intron_variant,,ENST00000558379,;TLE3,intron_variant,,ENST00000558939,;TLE3,intron_variant,,ENST00000557907,;TLE3,intron_variant,,ENST00000440567,;TLE3,intron_variant,,ENST00000559191,;TLE3,intron_variant,,ENST00000317509,;TLE3,intron_variant,,ENST00000560996,;TLE3,intron_variant,,ENST00000559048,;MIR629,downstream_gene_variant,,ENST00000385230,;TLE3,intron_variant,,ENST00000560525,;TLE3,intron_variant,,ENST00000557919,;TLE3,intron_variant,,ENST00000561453,;TLE3,upstream_gene_variant,,ENST00000537387,;	.	206	82	SUCCESS
ZNF710	374655	.	GRCh37	15	90611162	90611162	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753434936	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	40	135	0	ENST00000268154.4:c.793C>T	p.Arg265Cys	p.R265C	ENST00000268154	NM_198526.2	265	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS10358.1	793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACGCCAC	NONE	byFrequency	.	hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF43	.	.	ENSP00000268154	.	2/5	.	.	.	.	.	.	.	.	rs753434936	2/5	PASS	ENST00000268154	Transcript	.	.	ENSG00000140548	25352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.265)	.	deleterious_low_confidence(0)	.	ZN710_HUMAN	ZNF710	HGNC	H0YKZ0_HUMAN	.	UPI000013D7A4	SNV	ZNF710,missense_variant,p.Arg265Cys,ENST00000268154,;ZNF710,upstream_gene_variant,,ENST00000559360,;ZNF710,downstream_gene_variant,,ENST00000559419,;ZNF710,upstream_gene_variant,,ENST00000558883,;	1044	135	67	SUCCESS
UBN1	29855	.	GRCh37	16	4924702	4924702	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764055535	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	44	0	ENST00000262376.6:c.2291C>A	p.Ser764Tyr	p.S764Y	ENST00000262376	NM_001079514.1	764	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS10525.1	2291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCCTGCC	NONE	.	.	hmmpanther:PTHR16426:SF14,hmmpanther:PTHR16426	.	.	ENSP00000379894	.	14/17	.	.	.	.	.	.	.	.	rs764055535	14/17	PASS	ENST00000396658	Transcript	.	.	ENSG00000118900	12506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	deleterious(0)	.	UBN1_HUMAN	UBN1	HGNC	K7EQR1_HUMAN	.	UPI0000071469	SNV	UBN1,missense_variant,p.Ser764Tyr,ENST00000590769,;UBN1,missense_variant,p.Ser224Tyr,ENST00000586716,;UBN1,missense_variant,p.Ser764Tyr,ENST00000545171,;UBN1,missense_variant,p.Ser764Tyr,ENST00000396658,;UBN1,missense_variant,p.Ser764Tyr,ENST00000262376,;UBN1,downstream_gene_variant,,ENST00000585857,;UBN1,upstream_gene_variant,,ENST00000589191,;UBN1,upstream_gene_variant,,ENST00000586152,;	2994	44	23	SUCCESS
ZNF469	84627	.	GRCh37	16	88502790	88502790	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	84	1	ENST00000437464.1:c.8828C>T	p.Ala2943Val	p.A2943V	ENST00000437464	NM_001127464.1	2943	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45544.1	8828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCAGAGA	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ala2971Val,ENST00000565624,;ZNF469,missense_variant,p.Ala2943Val,ENST00000437464,;	8828	85	35	SUCCESS
OMG	4974	.	GRCh37	17	29622317	29622317	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	39	158	0	ENST00000247271.4:c.1033T>A	p.Ser345Thr	p.S345T	ENST00000247271	NM_002544.4	345	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS11265.1	1033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGAATTGA	NONE	.	.	hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF52	.	.	ENSP00000247271	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000247271	Transcript	.	.	ENSG00000126861	8135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.28)	.	OMGP_HUMAN	OMG	HGNC	.	.	UPI0000130CE1	SNV	OMG,missense_variant,p.Ser345Thr,ENST00000247271,;NF1,intron_variant,,ENST00000358273,;NF1,intron_variant,,ENST00000456735,;NF1,intron_variant,,ENST00000356175,;OMG,intron_variant,,ENST00000580156,;OMG,non_coding_transcript_exon_variant,,ENST00000582029,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;	1295	158	124	SUCCESS
TP53	7157	.	GRCh37	17	7577111	7577111	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs786202082	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	37	116	0	ENST00000269305.4:c.827C>G	p.Ala276Gly	p.A276G	ENST00000269305	NM_001126112.2	276	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS11118.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGCACAA	SITE|p.A276G|c.827C>G|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.A276D|c.827C>A|9,CODON|p.A276D|c.827C>A|3,CODON|p.A276V|c.827C>T|7,BUFFER|p.R280*|c.838A>T|12,BUFFER|p.R280G|c.838A>G|6,BUFFER|p.R280G|c.838A>G|3,BUFFER|p.R280G|c.838A>G|23,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279E|c.836G>A|4,BUFFER|p.G279E|c.836G>A|34,BUFFER|p.G279V|c.836G>T|3,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277*|c.831T>A|6,BUFFER|p.C277C|c.831T>C|4,BUFFER|p.C277Y|c.830G>A|15,BUFFER|p.C277F|c.830G>T|22,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275C|c.825T>C|4,BUFFER|p.C275W|c.825T>G|8,BUFFER|p.C275*|c.825T>A|3,BUFFER|p.C275F|c.824G>T|10,BUFFER|p.C275S|c.824G>C|4,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275F|c.824G>T|43,BUFFER|p.C275F|c.824G>T|5,BUFFER|p.C275Y|c.824G>A|54,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275Y|c.824G>A|11,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273L|c.818G>T|98,BUFFER|p.R273P|c.818G>C|4,BUFFER|p.R273H|c.818G>A|116,BUFFER|p.R273H|c.818G>A|64,BUFFER|p.R273H|c.818G>A|588,BUFFER|p.R273L|c.818G>T|5,BUFFER|p.R273H|c.818G>A|83,BUFFER|p.R273P|c.818G>C|29,BUFFER|p.R273L|c.818G>T|18,BUFFER|p.R273L|c.818G>T|12,BUFFER|p.R273S|c.817C>A|4,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273S|c.817C>A|15,BUFFER|p.R273C|c.817C>T|59	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CD098502,TP53_g.13807C>A,TP53_g.13807C>T,TP53_g.13807C>G,COSM10756,COSM45695,COSM45268,COSM393936,COSM1559474,COSM3738222,COSM1732585	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1	.	.	probably_damaging(0.951)	.	deleterious(0.01)	0,0,0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ala276Gly,ENST00000420246,;TP53,missense_variant,p.Ala276Gly,ENST00000269305,;TP53,missense_variant,p.Ala144Gly,ENST00000509690,;TP53,missense_variant,p.Ala276Gly,ENST00000359597,;TP53,missense_variant,p.Ala276Gly,ENST00000445888,;TP53,missense_variant,p.Ala276Gly,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1017	116	42	SUCCESS
EPB41L3	23136	.	GRCh37	18	5428441	5428441	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	88	0	ENST00000341928.2:c.936G>C	p.Met312Ile	p.M312I	ENST00000341928	NM_012307.3	312	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS11838.1	936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAACATAAT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Gene3D:2.30.29.30,Pfam_domain:PF09380,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729,Prints_domain:PR00661	.	.	ENSP00000343158	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious(0)	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Met312Ile,ENST00000342933,;EPB41L3,missense_variant,p.Met312Ile,ENST00000341928,;EPB41L3,missense_variant,p.Met312Ile,ENST00000544123,;EPB41L3,missense_variant,p.Met312Ile,ENST00000400111,;EPB41L3,missense_variant,p.Met312Ile,ENST00000540638,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,downstream_gene_variant,,ENST00000581757,;EPB41L3,upstream_gene_variant,,ENST00000581661,;EPB41L3,downstream_gene_variant,,ENST00000578432,;	1277	88	73	SUCCESS
ANKRD12	23253	.	GRCh37	18	9255937	9255939	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-	rs766855546	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	CTG	CTG	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	43	0	ENST00000262126.4:c.2677_2679del	p.Ala893del	p.A893del	ENST00000262126	NM_015208.4	891	aCTGct/act	0	.	.	.	.	.	-	TA/T	protein_coding	YES	CCDS11843.1	2672-2674	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAATACTGCTGCT	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	rs766855546	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	deletion	ANKRD12,inframe_deletion,p.Ala893del,ENST00000262126,;ANKRD12,inframe_deletion,p.Ala870del,ENST00000383440,;ANKRD12,inframe_deletion,p.Ala870del,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	2912-2914	43	40	SUCCESS
TYK2	7297	.	GRCh37	19	10475628	10475628	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs550060811	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	78	0	ENST00000264818.6:c.1108C>T	p.Arg370Trp	p.R370W	ENST00000264818		370	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS12236.1	1108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGCGGCC	NONE	by1000G	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF68,PIRSF_domain:PIRSF000636	A:0	.	ENSP00000431885	A:0	8/25	.	.	.	.	.	.	.	.	rs550060811	8/25	common_in_exac	ENST00000525621	Transcript	1	A:0.0002	ENSG00000105397	12440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.586)	A:0.001	deleterious(0)	.	TYK2_HUMAN	TYK2	HGNC	E9PQM4_HUMAN,E9PQL2_HUMAN,E9PM19_HUMAN	.	UPI000013D573	SNV	TYK2,missense_variant,p.Arg370Trp,ENST00000525621,;TYK2,missense_variant,p.Arg370Trp,ENST00000529370,;TYK2,missense_variant,p.Arg370Trp,ENST00000264818,;TYK2,missense_variant,p.Arg185Trp,ENST00000524462,;TYK2,intron_variant,,ENST00000525220,;TYK2,downstream_gene_variant,,ENST00000531836,;TYK2,downstream_gene_variant,,ENST00000530829,;TYK2,downstream_gene_variant,,ENST00000525824,;TYK2,upstream_gene_variant,,ENST00000533334,;TYK2,downstream_gene_variant,,ENST00000529317,;TYK2,upstream_gene_variant,,ENST00000531620,;	1590	78	57	SUCCESS
KCNN1	3780	.	GRCh37	19	18099244	18099244	+	synonymous_variant	Silent	SNP	C	C	T	rs377483438	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	116	0	ENST00000222249.9:c.1080C>T	p.Leu360=	p.L360=	ENST00000222249	NM_002248.4	360	ctC/ctT	0	T:0	.	.	.	.	T	L	protein_coding	YES	CCDS67611.1	1080	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCGTGGT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10153:SF8,hmmpanther:PTHR10153,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	T:0.0001	ENSP00000476519	.	7/11	.	.	.	.	.	.	.	.	rs377483438	7/11	PASS	ENST00000222249	Transcript	.	.	ENSG00000105642	6290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNN1_HUMAN	KCNN1	HGNC	.	.	UPI00001649F9	SNV	KCNN1,synonymous_variant,p.%3D,ENST00000222249,;	1399	116	49	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38633281	38633281	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749979391	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	96	1	ENST00000222345.6:c.3464G>C	p.Arg1155Pro	p.R1155P	ENST00000222345	NM_015073.1	1155	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS33007.1	3464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCGACAGC	NONE	byFrequency	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	.	.	ENSP00000222345	.	12/22	.	.	.	.	.	.	.	.	rs749979391	12/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.1)	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,missense_variant,p.Arg1155Pro,ENST00000222345,;	3973	98	87	SUCCESS
TICAM1	148022	.	GRCh37	19	4817368	4817368	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1401418673	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	62	134	0	ENST00000248244.5:c.1022C>A	p.Thr341Asn	p.T341N	ENST00000248244	NM_182919.3	341	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS12136.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGTATCT	NONE	.	.	PIRSF_domain:PIRSF037744,Low_complexity_(Seg):seg	.	.	ENSP00000248244	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000248244	Transcript	1	.	ENSG00000127666	18348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	tolerated(0.12)	.	TCAM1_HUMAN	TICAM1	HGNC	.	.	UPI000000D72E	SNV	TICAM1,missense_variant,p.Thr341Asn,ENST00000248244,;	1252	134	144	SUCCESS
BAX	581	.	GRCh37	19	49464295	49464295	+	intron_variant	Intron	SNP	C	C	T	rs774285236	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	20	0	ENST00000345358.7:c.474+124C>T		p.*158*	ENST00000345358	NM_138764.4	200		0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12744.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCCTCTC	NONE	byFrequency	.	.	.	.	ENSP00000293288	.	5/5	.	.	.	.	.	.	.	.	rs774285236	5/5	PASS	ENST00000293288	Transcript	.	.	ENSG00000087088	959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BAX_HUMAN	BAX	HGNC	Q9UEI8_HUMAN,Q8WXU1_HUMAN,Q5ZPJ1_HUMAN,I6LPK7_HUMAN	.	UPI000000D900	SNV	BAX,missense_variant,p.Pro200Ser,ENST00000293288,;BAX,intron_variant,,ENST00000391871,;BAX,intron_variant,,ENST00000539787,;BAX,intron_variant,,ENST00000345358,;BAX,intron_variant,,ENST00000415969,;BAX,intron_variant,,ENST00000354470,;BAX,intron_variant,,ENST00000506183,;FTL,upstream_gene_variant,,ENST00000331825,;CTD-2639E6.9,upstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,upstream_gene_variant,,ENST00000594305,;BAX,non_coding_transcript_exon_variant,,ENST00000513217,;BAX,intron_variant,,ENST00000513545,;BAX,intron_variant,,ENST00000502487,;BAX,intron_variant,,ENST00000356483,;BAX,downstream_gene_variant,,ENST00000515540,;BAX,downstream_gene_variant,,ENST00000503726,;	598	20	21	SUCCESS
SIGLEC14	100049587	.	GRCh37	19	52149062	52149062	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	175	594	1	ENST00000360844.6:c.673G>A	p.Glu225Lys	p.E225K	ENST00000360844	NM_001098612.1	225	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS42604.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCCGTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000354090	.	3/7	.	.	.	.	.	.	.	.	COSM1000144,COSM1000143	3/7	PASS	ENST00000360844	Transcript	.	.	ENSG00000254415	32926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.308)	.	deleterious(0.05)	1,1	SIG14_HUMAN	SIGLEC14	HGNC	.	.	UPI0000E44158	SNV	SIGLEC14,missense_variant,p.Glu225Lys,ENST00000360844,;SIGLEC5,intron_variant,,ENST00000599649,;SIGLEC5,intron_variant,,ENST00000429354,;SIGLEC5,intron_variant,,ENST00000222107,;SIGLEC5,upstream_gene_variant,,ENST00000534261,;SIGLEC14,upstream_gene_variant,,ENST00000533866,;RPL7P51,upstream_gene_variant,,ENST00000490532,;	715	595	384	SUCCESS
KIR3DL2	3812	.	GRCh37	19	55378066	55378066	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	31	170	1	ENST00000326321.3:c.1248G>A	p.Gln416=	p.Q416=	ENST00000326321	NM_006737.3	416	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS12906.1	1248	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGAGGCC	NONE	.	.	hmmpanther:PTHR11738:SF19,hmmpanther:PTHR11738	.	.	ENSP00000325525	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000326321	Transcript	.	.	ENSG00000240403	6339	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI3L2_HUMAN	KIR3DL2	HGNC	O78200_HUMAN,E4W3V6_HUMAN,A7YL13_HUMAN	.	UPI000012DB25	SNV	KIR3DL2,synonymous_variant,p.%3D,ENST00000270442,;KIR3DL2,synonymous_variant,p.%3D,ENST00000326321,;KIR3DL1,synonymous_variant,p.%3D,ENST00000402254,;RNU6-222P,downstream_gene_variant,,ENST00000362438,;	1281	171	181	SUCCESS
NLRP11	204801	.	GRCh37	19	56321586	56321586	+	synonymous_variant	Silent	SNP	G	G	A	rs1366344449	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	53	118	0	ENST00000589093.1:c.390C>T	p.Tyr130=	p.Y130=	ENST00000589093		130	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS12935.1	390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATGTAGAA	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62	.	.	ENSP00000409898	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000443188	Transcript	.	.	ENSG00000179873	22945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL11_HUMAN	NLRP11	HGNC	K7ESF9_HUMAN	.	UPI000013ED9D	SNV	NLRP11,synonymous_variant,p.%3D,ENST00000589093,;NLRP11,synonymous_variant,p.%3D,ENST00000592953,;NLRP11,synonymous_variant,p.%3D,ENST00000589824,;NLRP11,synonymous_variant,p.%3D,ENST00000443188,;NLRP11,synonymous_variant,p.%3D,ENST00000360133,;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,synonymous_variant,p.%3D,ENST00000593244,;NLRP11,synonymous_variant,p.%3D,ENST00000590409,;	1101	118	102	SUCCESS
COL11A1	1301	.	GRCh37	1	103480065	103480065	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	58	158	0	ENST00000370096.3:c.1572+2T>A		p.X524_splice	ENST00000370096	NM_001854.3	524		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS778.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTACCCGA	NONE	.	.	.	.	.	ENSP00000359114	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	HIGH	13/66	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,splice_donor_variant,,ENST00000512756,;COL11A1,splice_donor_variant,,ENST00000353414,;COL11A1,splice_donor_variant,,ENST00000427239,;COL11A1,splice_donor_variant,,ENST00000370096,;COL11A1,splice_donor_variant,,ENST00000358392,;	.	158	131	SUCCESS
CELSR2	1952	.	GRCh37	1	109814047	109814047	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	68	164	0	ENST00000271332.3:c.7716G>A	p.Leu2572=	p.L2572=	ENST00000271332	NM_001408.2	2572	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS796.1	7716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGAGCGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Pfam_domain:PF00002	.	.	ENSP00000271332	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,synonymous_variant,p.%3D,ENST00000271332,;CELSR2,non_coding_transcript_exon_variant,,ENST00000489018,;CELSR2,non_coding_transcript_exon_variant,,ENST00000498157,;CELSR2,downstream_gene_variant,,ENST00000459940,;	7777	164	142	SUCCESS
SPAG17	200162	.	GRCh37	1	118535171	118535171	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	129	0	ENST00000336338.5:c.5279C>T	p.Pro1760Leu	p.P1760L	ENST00000336338	NM_206996.2	1760	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS899.1	5279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGGGCTC	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	36/49	.	.	.	.	.	.	.	.	.	36/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Pro240Leu,ENST00000437255,;SPAG17,missense_variant,p.Pro1760Leu,ENST00000336338,;SPAG17,upstream_gene_variant,,ENST00000483383,;	5345	129	105	SUCCESS
NBPF8	728841	.	GRCh37	1	144189177	144189177	+	synonymous_variant	Silent	SNP	C	C	T	rs199902768	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	25	0	ENST00000369365.3:c.5916C>T	p.Asp1972=	p.D1972=	ENST00000369365		1972	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	.	5916	RADIA|VARSCANS	.	CTTGACGTGGA	NONE	byCluster	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16,Pfam_domain:PF06758	.	.	ENSP00000358372	.	47/91	.	.	.	.	.	.	.	.	rs199902768	47/91	PASS	ENST00000369365	Transcript	.	.	ENSG00000162825	31990	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBPF8	HGNC	S4R3H5_HUMAN,H7BY70_HUMAN,H7BY69_HUMAN,A2BGT6_HUMAN	.	UPI000066D8C0	SNV	NBPF8,synonymous_variant,p.%3D,ENST00000369365,;NBPF8,5_prime_UTR_variant,,ENST00000356801,;NBPF8,intron_variant,,ENST00000369372,;	5915	25	16	SUCCESS
ZNF687	57592	.	GRCh37	1	151258940	151258940	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762937626	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	34	79	1	ENST00000324048.5:c.173C>T	p.Ser58Phe	p.S58F	ENST00000324048		58	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS992.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCTGCTG	NONE	.	.	hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402	.	.	ENSP00000319829	.	3/10	.	.	.	.	.	.	.	.	rs762937626	3/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	deleterious(0.03)	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,missense_variant,p.Ser67Phe,ENST00000443959,;ZNF687,missense_variant,p.Ser58Phe,ENST00000324048,;ZNF687,missense_variant,p.Ser58Phe,ENST00000368879,;ZNF687,missense_variant,p.Ser58Phe,ENST00000336715,;RP11-126K1.2,upstream_gene_variant,,ENST00000447795,;ZNF687,upstream_gene_variant,,ENST00000436614,;ZNF687,upstream_gene_variant,,ENST00000426871,;RP11-126K1.2,upstream_gene_variant,,ENST00000494138,;ZNF687,missense_variant,p.Ser58Phe,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	1143	80	68	SUCCESS
NUP133	55746	.	GRCh37	1	229586330	229586330	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1210618351	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	71	164	0	ENST00000261396.3:c.3122G>A	p.Arg1041Lys	p.R1041K	ENST00000261396	NM_018230.2	1041	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS1579.1	3122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCTATTT	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.25)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Arg1025Lys,ENST00000537506,;NUP133,missense_variant,p.Arg1041Lys,ENST00000261396,;NUP133,non_coding_transcript_exon_variant,,ENST00000485119,;NUP133,non_coding_transcript_exon_variant,,ENST00000490352,;	3214	164	209	SUCCESS
NPHP4	261734	.	GRCh37	1	6038329	6038329	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	64	182	1	ENST00000378156.4:c.279+1G>T		p.X93_splice	ENST00000378156	NM_015102.3	93		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44052.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACCTCAT	NONE	.	.	.	.	.	ENSP00000367398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378156	Transcript	.	.	ENSG00000131697	19104	.	.	HIGH	3/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,splice_donor_variant,,ENST00000378156,;NPHP4,intron_variant,,ENST00000478423,;NPHP4,splice_donor_variant,,ENST00000378169,;NPHP4,splice_donor_variant,,ENST00000489180,;	.	184	123	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77528719	77528719	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759824508	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	65	160	0	ENST00000477717.1:c.839G>A	p.Cys280Tyr	p.C280Y	ENST00000477717	NM_030965.1	280	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS673.1	839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGTACAA	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF33	.	.	ENSP00000417583	.	5/5	.	.	.	.	.	.	.	.	rs759824508	5/5	PASS	ENST00000477717	Transcript	.	.	ENSG00000117069	19342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,missense_variant,p.Cys280Tyr,ENST00000477717,;RP4-564M11.2,upstream_gene_variant,,ENST00000454305,;ST6GALNAC5,3_prime_UTR_variant,,ENST00000318803,;	1074	160	129	SUCCESS
ID1	3397	.	GRCh37	20	30193847	30193847	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	31	0	ENST00000376112.3:c.427-9T>G		p.*143*	ENST00000376112	NM_002165.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13185.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGTTTTCA	NONE	.	.	.	.	.	ENSP00000365280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376112	Transcript	.	.	ENSG00000125968	5360	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID1_HUMAN	ID1	HGNC	.	.	UPI000012D18F	SNV	ID1,3_prime_UTR_variant,,ENST00000376105,;ID1,intron_variant,,ENST00000376112,;MIR3193,upstream_gene_variant,,ENST00000578262,;	.	31	27	SUCCESS
CHD6	84181	.	GRCh37	20	40045242	40045242	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	78	0	ENST00000373233.3:c.6472G>A	p.Ala2158Thr	p.A2158T	ENST00000373233	NM_032221.4	2158	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13317.1	6472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCGCCA	NONE	.	.	.	.	.	ENSP00000362330	.	33/37	.	.	.	.	.	.	.	.	COSM1026849	33/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.007)	.	tolerated(0.33)	1	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Ala2158Thr,ENST00000373233,;CHD6,upstream_gene_variant,,ENST00000480022,;	6650	78	57	SUCCESS
BMP2	650	.	GRCh37	20	6759153	6759153	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770387804	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	91	0	ENST00000378827.4:c.608G>T	p.Arg203Met	p.R203M	ENST00000378827	NM_001200.2	203	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS13099.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGGTGGG	NONE	.	.	hmmpanther:PTHR11848:SF143,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000368104	.	3/3	.	.	.	.	.	.	.	.	rs770387804	3/3	PASS	ENST00000378827	Transcript	1	.	ENSG00000125845	1069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious(0.02)	.	BMP2_HUMAN	BMP2	HGNC	U3N491_HUMAN,C8C069_HUMAN,C8C060_HUMAN	.	UPI0000126A21	SNV	BMP2,missense_variant,p.Arg203Met,ENST00000378827,;	1827	91	87	SUCCESS
PLCB4	5332	.	GRCh37	20	9365037	9365037	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	62	157	1	ENST00000278655.4:c.1043A>G	p.Gln348Arg	p.Q348R	ENST00000278655	NM_182797.2	348	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13104.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAGGTTC	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000367762	.	11/36	.	.	.	.	.	.	.	.	COSM1729285	11/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Gln348Arg,ENST00000334005,;PLCB4,missense_variant,p.Gln348Arg,ENST00000414679,;PLCB4,missense_variant,p.Gln348Arg,ENST00000278655,;PLCB4,missense_variant,p.Gln348Arg,ENST00000378473,;PLCB4,missense_variant,p.Gln348Arg,ENST00000378493,;PLCB4,missense_variant,p.Gln348Arg,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	1058	159	132	SUCCESS
CCDC74B	91409	.	GRCh37	2	130898811	130898811	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	64	210	0	ENST00000310463.6:c.603C>A	p.Pro201=	p.P201=	ENST00000310463	NM_207310.2	201	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2155.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGGGAC	NONE	.	.	.	.	.	ENSP00000308873	.	4/8	.	.	.	.	.	.	.	.	COSM1006458	4/8	PASS	ENST00000310463	Transcript	.	.	ENSG00000152076	25267	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,synonymous_variant,p.%3D,ENST00000409943,;CCDC74B,synonymous_variant,p.%3D,ENST00000409128,;CCDC74B,synonymous_variant,p.%3D,ENST00000392984,;CCDC74B,synonymous_variant,p.%3D,ENST00000310463,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,3_prime_UTR_variant,,ENST00000434929,;CCDC74B,3_prime_UTR_variant,,ENST00000423263,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;	741	211	140	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131674571	131674571	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	207	0	ENST00000326016.5:c.-172G>T		p.*58*	ENST00000326016	NM_015320.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2165.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAGTTTCT	NONE	.	.	.	.	.	ENSP00000316845	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Val12Phe,ENST00000438985,;ARHGEF4,missense_variant,p.Val688Phe,ENST00000409359,;ARHGEF4,5_prime_UTR_variant,,ENST00000392953,;ARHGEF4,5_prime_UTR_variant,,ENST00000326016,;ARHGEF4,5_prime_UTR_variant,,ENST00000428230,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	348	207	135	SUCCESS
SNTG2	54221	.	GRCh37	2	1371215	1371215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	46	144	0	ENST00000308624.5:c.1589G>T	p.Ser530Ile	p.S530I	ENST00000308624	NM_018968.3	530	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS46220.1	1589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGTCTTG	NONE	.	.	hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	.	ENSP00000311837	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	deleterious(0)	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Ser530Ile,ENST00000308624,;SNTG2,missense_variant,p.Ser403Ile,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000472606,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;	1718	144	215	SUCCESS
ITGB6	3694	.	GRCh37	2	161055767	161055767	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	342	80	521	0	ENST00000283249.2:c.64G>A	p.Gly22Ser	p.G22S	ENST00000283249	NM_001282388.1	22	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2212.1	64	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCACCTA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,PIRSF_domain:PIRSF002512,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000283249	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000283249	Transcript	.	.	ENSG00000115221	6161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ITB6_HUMAN	ITGB6	HGNC	.	.	UPI000012DA13	SNV	ITGB6,missense_variant,p.Gly22Ser,ENST00000409872,;ITGB6,missense_variant,p.Gly22Ser,ENST00000409967,;ITGB6,missense_variant,p.Gly22Ser,ENST00000283249,;ITGB6,intron_variant,,ENST00000428609,;ITGB6,intron_variant,,ENST00000485635,;ITGB6,downstream_gene_variant,,ENST00000498478,;ITGB6,missense_variant,p.Gly22Ser,ENST00000409583,;	302	522	423	SUCCESS
TTN	7273	.	GRCh37	2	179494983	179494983	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766470098	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	45	116	1	ENST00000591111.1:c.39343C>A	p.His13115Asn	p.H13115N	ENST00000591111		13115	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS59435.1	44266	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GAGGTGGGCAC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	239/363	.	.	.	.	.	.	.	.	rs766470098,COSM571346,COSM571345,COSM1142166,COSM571344,COSM571343	239/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.His5816Asn,ENST00000359218,;TTN,missense_variant,p.His5883Asn,ENST00000342175,;TTN,missense_variant,p.His12188Asn,ENST00000342992,;TTN,missense_variant,p.His13115Asn,ENST00000591111,;TTN,missense_variant,p.His14756Asn,ENST00000589042,;TTN,missense_variant,p.His5691Asn,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;	44491	117	91	SUCCESS
SCG2	7857	.	GRCh37	2	224463429	224463429	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778618069	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	52	0	ENST00000305409.2:c.572C>A	p.Thr191Asn	p.T191N	ENST00000305409	NM_003469.4	191	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS2457.1	572	MUTECT|MUSE	.	GAGGAGTATAT	NONE	.	.	hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0,Pfam_domain:PF01271	.	.	ENSP00000304133	.	2/2	.	.	.	.	.	.	.	.	rs778618069	2/2	PASS	ENST00000305409	Transcript	.	.	ENSG00000171951	10575	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SCG2_HUMAN	SCG2	HGNC	C9JQI2_HUMAN,C9JDT0_HUMAN	.	UPI000013EA45	SNV	SCG2,missense_variant,p.Thr191Asn,ENST00000305409,;SCG2,downstream_gene_variant,,ENST00000433889,;SCG2,downstream_gene_variant,,ENST00000421386,;	805	52	38	SUCCESS
ARMC9	80210	.	GRCh37	2	232087516	232087516	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	117	0	ENST00000349938.4:c.580A>G	p.Lys194Glu	p.K194E	ENST00000349938	NM_025139.4	194	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS2484.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAAAGCTT	NONE	.	.	hmmpanther:PTHR14881,Gene3D:1.25.10.10	.	.	ENSP00000258417	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000349938	Transcript	.	.	ENSG00000135931	20730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	deleterious(0.01)	.	ARMC9_HUMAN	ARMC9	HGNC	C9JW07_HUMAN	.	UPI00001AE7AC	SNV	ARMC9,missense_variant,p.Lys194Glu,ENST00000349938,;ARMC9,non_coding_transcript_exon_variant,,ENST00000469789,;ARMC9,non_coding_transcript_exon_variant,,ENST00000483477,;	774	117	106	SUCCESS
ITSN2	50618	.	GRCh37	2	24509193	24509193	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	24	139	1	ENST00000355123.4:c.1751A>C	p.Lys584Thr	p.K584T	ENST00000355123	NM_006277.2	584	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS1710.2	1751	RADIA|MUTECT|MUSE|VARSCANS	.	ATGATTTTTTA	NONE	.	.	hmmpanther:PTHR11216:SF29,hmmpanther:PTHR11216,Low_complexity_(Seg):seg	.	.	ENSP00000347244	.	16/40	.	.	.	.	.	.	.	.	.	16/40	PASS	ENST00000355123	Transcript	.	.	ENSG00000198399	6184	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.29)	.	ITSN2_HUMAN	ITSN2	HGNC	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN	.	UPI000013D415	SNV	ITSN2,missense_variant,p.Lys609Thr,ENST00000412011,;ITSN2,missense_variant,p.Lys584Thr,ENST00000406921,;ITSN2,missense_variant,p.Lys584Thr,ENST00000355123,;ITSN2,missense_variant,p.Lys584Thr,ENST00000361999,;	2195	140	237	SUCCESS
THADA	63892	.	GRCh37	2	43779386	43779386	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1174263513	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	208	156	0	ENST00000405006.4:c.2767C>T	p.Arg923Ter	p.R923*	ENST00000405006	NM_001083953.1	923	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46268.1	2767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGCCCAT	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	.	.	ENSP00000385995	.	18/38	.	.	.	.	.	.	.	.	COSM575302	18/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,stop_gained,p.Arg633Ter,ENST00000330266,;THADA,stop_gained,p.Arg923Ter,ENST00000402360,;THADA,stop_gained,p.Arg237Ter,ENST00000407351,;THADA,stop_gained,p.Arg633Ter,ENST00000415080,;THADA,stop_gained,p.Arg923Ter,ENST00000405006,;THADA,stop_gained,p.Arg923Ter,ENST00000405975,;THADA,downstream_gene_variant,,ENST00000404790,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,3_prime_UTR_variant,,ENST00000402796,;THADA,downstream_gene_variant,,ENST00000474159,;	3119	156	289	SUCCESS
KDM3A	55818	.	GRCh37	2	86669229	86669229	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	51	100	0	ENST00000312912.5:c.59del	p.Leu20ArgfsTer42	p.L20Rfs*42	ENST00000312912	NM_018433.5	20	cTg/cg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS1990.1	59	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGTCTGTCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7	.	.	ENSP00000386660	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000409556	Transcript	.	.	ENSG00000115548	20815	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KDM3A_HUMAN	KDM3A	HGNC	C9JC73_HUMAN,C9J7Q7_HUMAN	.	UPI0000161FAE	deletion	KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000409064,;KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000452034,;KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000427678,;KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000542128,;KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000409556,;KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000312912,;KDM3A,upstream_gene_variant,,ENST00000466058,;KDM3A,upstream_gene_variant,,ENST00000498528,;KDM3A,frameshift_variant,p.Leu20ArgfsTer42,ENST00000441719,;	424	100	101	SUCCESS
NRROS	375387	.	GRCh37	3	196386948	196386948	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368543951	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	85	1	ENST00000328557.4:c.434C>T	p.Thr145Met	p.T145M	ENST00000328557	NM_198565.1	145	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS3319.1	434	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGACGGAGG	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00369,Pfam_domain:PF00560,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF245,PROSITE_profiles:PS51450	.	T:0.0001	ENSP00000328625	.	3/3	.	.	.	.	.	.	.	.	rs368543951,COSM1422015	3/3	PASS	ENST00000328557	Transcript	.	.	ENSG00000174004	24613	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.965)	.	deleterious(0)	0,1	NRROS_HUMAN	NRROS	HGNC	.	.	UPI000000DA7E	SNV	NRROS,missense_variant,p.Thr145Met,ENST00000328557,;PIGX,intron_variant,,ENST00000426755,;	637	86	33	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274853	41274853	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	87	180	1	ENST00000349496.5:c.1103T>A	p.Leu368His	p.L368H	ENST00000349496	NM_001904.3	368	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS2694.1	1103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTTCACC	NONE	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.58)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Leu368His,ENST00000349496,;CTNNB1,missense_variant,p.Leu368His,ENST00000396185,;CTNNB1,missense_variant,p.Leu368His,ENST00000405570,;CTNNB1,missense_variant,p.Leu361His,ENST00000453024,;CTNNB1,missense_variant,p.Leu368His,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1383	181	179	SUCCESS
ANO10	55129	.	GRCh37	3	43618347	43618347	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1183784960	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	83	263	0	ENST00000292246.3:c.999G>A	p.Met333Ile	p.M333I	ENST00000292246	NM_018075.3	333	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS2710.2	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCATGAC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF18	.	.	ENSP00000292246	.	6/13	.	.	.	.	.	.	.	.	COSM730820	6/13	PASS	ENST00000292246	Transcript	.	.	ENSG00000160746	25519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.893)	.	deleterious(0.04)	1	ANO10_HUMAN	ANO10	HGNC	C9JQC9_HUMAN,C9JPY2_HUMAN,C9JJS5_HUMAN,C9JA49_HUMAN,C9IZD0_HUMAN,C9IYD3_HUMAN	.	UPI000020A59A	SNV	ANO10,missense_variant,p.Met222Ile,ENST00000451430,;ANO10,missense_variant,p.Met333Ile,ENST00000292246,;ANO10,missense_variant,p.Met333Ile,ENST00000414522,;ANO10,missense_variant,p.Met267Ile,ENST00000396091,;ANO10,intron_variant,,ENST00000350459,;ANO10,intron_variant,,ENST00000427171,;ANO10,downstream_gene_variant,,ENST00000428472,;	1170	263	181	SUCCESS
CCDC71	64925	.	GRCh37	3	49200783	49200783	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	32	0	ENST00000321895.6:c.859C>G	p.Arg287Gly	p.R287G	ENST00000321895	NM_022903.3	287	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS2790.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGAGCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14484:SF0,hmmpanther:PTHR14484,Pfam_domain:PF15374	.	.	ENSP00000319006	.	2/2	.	.	.	.	.	.	.	.	COSM4118458	2/2	PASS	ENST00000321895	Transcript	.	.	ENSG00000177352	25760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious(0)	1	CCD71_HUMAN	CCDC71	HGNC	.	.	UPI0000072BC0	SNV	CCDC71,missense_variant,p.Arg287Gly,ENST00000321895,;RP11-694I15.7,upstream_gene_variant,,ENST00000603877,;	966	32	21	SUCCESS
MUSTN1	389125	.	GRCh37	3	52867655	52867655	+	synonymous_variant	Silent	SNP	G	G	T	rs1321903867	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	89	0	ENST00000446157.2:c.120C>A	p.Thr40=	p.T40=	ENST00000446157	NM_205853.3	40	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS56264.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTAGGTCTT	NONE	.	.	hmmpanther:PTHR31735,hmmpanther:PTHR31735:SF2	.	.	ENSP00000422941	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000504329	Transcript	.	.	ENSG00000248592	38834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TMEM110-MUSTN1	HGNC	A8MSY1_HUMAN	.	UPI000020AD4B	SNV	TMEM110-MUSTN1,missense_variant,p.Leu142Ile,ENST00000514466,;TMEM110-MUSTN1,synonymous_variant,p.%3D,ENST00000504329,;MUSTN1,synonymous_variant,p.%3D,ENST00000486659,;MUSTN1,synonymous_variant,p.%3D,ENST00000446157,;ITIH4,upstream_gene_variant,,ENST00000266041,;TMEM110,downstream_gene_variant,,ENST00000355083,;ITIH4,upstream_gene_variant,,ENST00000346281,;TMEM110,downstream_gene_variant,,ENST00000482155,;ITIH4,upstream_gene_variant,,ENST00000434759,;ITIH4,upstream_gene_variant,,ENST00000485816,;ITIH4,upstream_gene_variant,,ENST00000406595,;RP5-966M1.6,non_coding_transcript_exon_variant,,ENST00000513520,;RP5-966M1.6,synonymous_variant,p.%3D,ENST00000468472,;TMEM110-MUSTN1,non_coding_transcript_exon_variant,,ENST00000495552,;ITIH4,upstream_gene_variant,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000491663,;ITIH4,upstream_gene_variant,,ENST00000473904,;	1102	89	88	SUCCESS
ACTR8	93973	.	GRCh37	3	53911741	53911741	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	rs1052615721	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	137	1	ENST00000335754.3:c.443T>G	p.Leu148Ter	p.L148*	ENST00000335754	NM_022899.4	148	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS2875.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTAAAATT	NONE	.	.	hmmpanther:PTHR11937:SF13,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268	.	.	ENSP00000336842	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000335754	Transcript	.	.	ENSG00000113812	14672	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARP8_HUMAN	ACTR8	HGNC	C9J7L6_HUMAN	.	UPI000013C95B	SNV	ACTR8,stop_gained,p.Leu37Ter,ENST00000498740,;ACTR8,stop_gained,p.Leu148Ter,ENST00000335754,;ACTR8,stop_gained,p.Leu37Ter,ENST00000482349,;ACTR8,upstream_gene_variant,,ENST00000231909,;ACTR8,upstream_gene_variant,,ENST00000486794,;AC012467.1,downstream_gene_variant,,ENST00000410956,;ACTR8,upstream_gene_variant,,ENST00000495993,;	544	138	113	SUCCESS
FLNB	2317	.	GRCh37	3	58107094	58107094	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777118695	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	48	139	0	ENST00000295956.4:c.2990C>G	p.Thr997Arg	p.T997R	ENST00000295956	NM_001457.3	997	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS54599.1	2990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACAGGCC	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	20/47	.	.	.	.	.	.	.	.	rs777118695	20/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.54)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Thr997Arg,ENST00000429972,;FLNB,missense_variant,p.Thr997Arg,ENST00000295956,;FLNB,missense_variant,p.Thr997Arg,ENST00000348383,;FLNB,missense_variant,p.Thr828Arg,ENST00000493452,;FLNB,missense_variant,p.Thr997Arg,ENST00000358537,;FLNB,missense_variant,p.Thr997Arg,ENST00000490882,;FLNB,missense_variant,p.Thr828Arg,ENST00000419752,;FLNB,missense_variant,p.Thr997Arg,ENST00000357272,;	3155	139	94	SUCCESS
PDZRN3	23024	.	GRCh37	3	73433851	73433851	+	synonymous_variant	Silent	SNP	G	G	A	rs553747931	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	98	1	ENST00000263666.4:c.1866C>T	p.Asn622=	p.N622=	ENST00000263666	NM_015009.1	622	aaC/aaT	0	.	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS33789.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGTTGCT	NONE	by1000G	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545	A:0	.	ENSP00000263666	A:0	10/10	.	.	.	.	.	.	.	.	rs553747931,COSM1425292	10/10	PASS	ENST00000263666	Transcript	.	A:0.0002	ENSG00000121440	17704	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,synonymous_variant,p.%3D,ENST00000466780,;PDZRN3,synonymous_variant,p.%3D,ENST00000263666,;PDZRN3,synonymous_variant,p.%3D,ENST00000494559,;PDZRN3,synonymous_variant,p.%3D,ENST00000462146,;PDZRN3,synonymous_variant,p.%3D,ENST00000479530,;PDZRN3,synonymous_variant,p.%3D,ENST00000535920,;PDZRN3,synonymous_variant,p.%3D,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	1981	99	49	SUCCESS
EPHA6	285220	.	GRCh37	3	97194245	97194245	+	synonymous_variant	Silent	SNP	C	C	T	rs372907476	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	73	0	ENST00000389672.5:c.1944C>T	p.Ala648=	p.A648=	ENST00000389672	NM_001080448.2	648	gcC/gcT	0	T:0.0003	.	.	.	.	T	A	protein_coding	YES	CCDS46876.1	1944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCCGCTGT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Pfam_domain:PF14575	.	T:0	ENSP00000374323	.	8/18	.	.	.	.	.	.	.	.	rs372907476	8/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,synonymous_variant,p.%3D,ENST00000442602,;EPHA6,synonymous_variant,p.%3D,ENST00000389672,;EPHA6,synonymous_variant,p.%3D,ENST00000502694,;EPHA6,synonymous_variant,p.%3D,ENST00000514100,;EPHA6,synonymous_variant,p.%3D,ENST00000477384,;EPHA6,synonymous_variant,p.%3D,ENST00000503760,;EPHA6,synonymous_variant,p.%3D,ENST00000508345,;	1982	73	71	SUCCESS
WDR1	9948	.	GRCh37	4	10077080	10077080	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	61	333	1	ENST00000382452.2:c.1743C>T	p.Ser581=	p.S581=	ENST00000382452	NM_017491.3	581	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54740.1	1743	RADIA|SOMATICSNIPER|VARSCANS	.	GCCAGGCTGCT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19856,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000427687	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000499869	Transcript	.	.	ENSG00000071127	12754	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR1_HUMAN	WDR1	HGNC	.	.	UPI0000138EDA	SNV	WDR1,synonymous_variant,p.%3D,ENST00000382452,;WDR1,synonymous_variant,p.%3D,ENST00000499869,;WDR1,synonymous_variant,p.%3D,ENST00000502702,;WDR1,synonymous_variant,p.%3D,ENST00000382451,;MIR3138,downstream_gene_variant,,ENST00000585238,;RP11-448G15.3,upstream_gene_variant,,ENST00000561486,;WDR1,non_coding_transcript_exon_variant,,ENST00000515743,;WDR1,non_coding_transcript_exon_variant,,ENST00000502962,;	1937	335	182	SUCCESS
ARL9	132946	.	GRCh37	4	57389953	57389953	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	70	181	0	ENST00000360096.2:c.283A>G	p.Thr95Ala	p.T95A	ENST00000360096	NM_206919.1	95	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS59474.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAACCTAC	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF143,hmmpanther:PTHR11711,Pfam_domain:PF00025,Gene3D:3.40.50.300	.	.	ENSP00000353210	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360096	Transcript	.	.	ENSG00000196503	23592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	ARL9_HUMAN	ARL9	HGNC	.	.	UPI00001603E1	SNV	ARL9,missense_variant,p.Thr95Ala,ENST00000360096,;	597	181	79	SUCCESS
FAT2	2196	.	GRCh37	5	150948080	150948080	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	92	275	1	ENST00000261800.5:c.413T>G	p.Ile138Ser	p.I138S	ENST00000261800	NM_001447.2	138	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS4317.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGATGTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Ile138Ser,ENST00000261800,;	426	276	201	SUCCESS
FLT4	2324	.	GRCh37	5	180048543	180048543	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	145	0	ENST00000261937.6:c.2019G>A		p.X673_splice	ENST00000261937	NM_182925.4	673	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS4457.1	2019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCTGCAC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49	.	.	ENSP00000261937	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,splice_region_variant,,ENST00000424276,;FLT4,splice_region_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	2098	145	50	SUCCESS
ZFP62	643836	.	GRCh37	5	180276821	180276821	+	synonymous_variant	Silent	SNP	T	T	C	rs772630913	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	60	0	ENST00000502412.1:c.1674A>G	p.Glu558=	p.E558=	ENST00000502412	NM_001172638.1	558	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS54955.1	1674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCGTTCCCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF15,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000423820	.	2/2	.	.	.	.	.	.	.	.	rs772630913	2/2	PASS	ENST00000502412	Transcript	.	.	ENSG00000196670	23241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP62_HUMAN	ZFP62	HGNC	J3QSW3_HUMAN,D6RCF6_HUMAN,D6RBG3_HUMAN,D6R9C0_HUMAN	.	UPI0001C53D24	SNV	ZFP62,synonymous_variant,p.%3D,ENST00000512132,;ZFP62,synonymous_variant,p.%3D,ENST00000359141,;ZFP62,synonymous_variant,p.%3D,ENST00000502412,;ZFP62,downstream_gene_variant,,ENST00000504225,;ZFP62,downstream_gene_variant,,ENST00000506439,;ZFP62,downstream_gene_variant,,ENST00000509066,;ZFP62,intron_variant,,ENST00000506377,;ZFP62,upstream_gene_variant,,ENST00000507843,;	1732	60	59	SUCCESS
VCAN	1462	.	GRCh37	5	82835447	82835447	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	52	114	0	ENST00000265077.3:c.6625A>C	p.Thr2209Pro	p.T2209P	ENST00000265077	NM_004385.4	2209	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS4060.1	6625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTACTGCA	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.06)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.Thr2209Pro,ENST00000265077,;VCAN,missense_variant,p.Thr1222Pro,ENST00000343200,;VCAN,missense_variant,p.Thr1222Pro,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	7190	114	96	SUCCESS
FYN	2534	.	GRCh37	6	111982951	111982951	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	25	60	1	ENST00000368678.4:c.1596A>C	p.Glu532Asp	p.E532D	ENST00000368678		532	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS5094.1	1605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTTTCACC	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF44	.	.	ENSP00000346671	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000354650	Transcript	.	.	ENSG00000010810	4037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.78)	.	FYN_HUMAN	FYN	HGNC	E5RK23_HUMAN,E5RJX7_HUMAN,E5RIX5_HUMAN,E5RI25_HUMAN,E5RHX7_HUMAN,E5RHF7_HUMAN,E5RH71_HUMAN,E5RGT0_HUMAN,E5RGM6_HUMAN,E5RFS5_HUMAN,E5RFM6_HUMAN,E5RFM4_HUMAN,E5RFM0_HUMAN	.	UPI0000141141	SNV	FYN,missense_variant,p.Glu535Asp,ENST00000368667,;FYN,missense_variant,p.Glu480Asp,ENST00000229471,;FYN,missense_variant,p.Glu532Asp,ENST00000368678,;FYN,missense_variant,p.Glu532Asp,ENST00000368682,;FYN,missense_variant,p.Glu483Asp,ENST00000229470,;FYN,missense_variant,p.Glu532Asp,ENST00000538466,;FYN,missense_variant,p.Glu535Asp,ENST00000354650,;FYN,missense_variant,p.Glu480Asp,ENST00000356013,;FYN,non_coding_transcript_exon_variant,,ENST00000491885,;FYN,downstream_gene_variant,,ENST00000467921,;	2212	61	26	SUCCESS
KPNA5	3841	.	GRCh37	6	117002483	117002483	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	37	145	1	ENST00000356348.1:c.-15G>C		p.*5*	ENST00000356348	NM_002269.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5111.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCGGAGAGT	NONE	.	.	.	.	.	ENSP00000357552	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000368564	Transcript	.	.	ENSG00000196911	6398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMA6_HUMAN	KPNA5	HGNC	Q5TD90_HUMAN	.	UPI000000DBE6	SNV	KPNA5,5_prime_UTR_variant,,ENST00000356348,;KPNA5,5_prime_UTR_variant,,ENST00000368564,;KPNA5,5_prime_UTR_variant,,ENST00000413340,;	134	146	50	SUCCESS
THEMIS	387357	.	GRCh37	6	128134854	128134854	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	41	107	0	ENST00000368248.2:c.932A>G	p.Lys311Arg	p.K311R	ENST00000368248	NM_001010923.2	311	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS55056.1	932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTTTGTGG	NONE	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1,Pfam_domain:PF12736	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.487)	.	tolerated(0.1)	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,missense_variant,p.Lys232Arg,ENST00000368250,;THEMIS,missense_variant,p.Lys311Arg,ENST00000368248,;THEMIS,missense_variant,p.Lys311Arg,ENST00000543064,;THEMIS,missense_variant,p.Lys79Arg,ENST00000434358,;THEMIS,missense_variant,p.Lys276Arg,ENST00000537166,;	1081	107	52	SUCCESS
HSP90AB1	3326	.	GRCh37	6	44219604	44219604	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	142	0	ENST00000353801.3:c.1446del	p.Ile483SerfsTer31	p.I483Sfs*31	ENST00000353801	NM_001271969.1	482	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS4909.1	1445	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGTCCATCT	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:SSF54211	.	.	ENSP00000360609	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000371554	Transcript	.	.	ENSG00000096384	5258	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HS90B_HUMAN	HSP90AB1	HGNC	A8K3W9_HUMAN	.	UPI00001411EF	deletion	HSP90AB1,frameshift_variant,p.Ile483SerfsTer31,ENST00000371646,;HSP90AB1,frameshift_variant,p.Ile483SerfsTer31,ENST00000353801,;HSP90AB1,frameshift_variant,p.Ile483SerfsTer31,ENST00000371554,;SLC35B2,downstream_gene_variant,,ENST00000538577,;SLC35B2,downstream_gene_variant,,ENST00000537814,;SLC35B2,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000393812,;MIR4647,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	1659	142	61	SUCCESS
BPGM	669	.	GRCh37	7	134346580	134346580	+	synonymous_variant	Silent	SNP	T	T	C	rs1007481067	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	108	276	1	ENST00000344924.3:c.321T>C	p.His107=	p.H107=	ENST00000344924	NM_001724.4	107	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS5833.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCATGGTGA	NONE	.	.	HAMAP:MF_01039,hmmpanther:PTHR11931:SF11,hmmpanther:PTHR11931,Pfam_domain:PF00300,TIGRFAM_domain:TIGR01258,Gene3D:3.40.50.1240,SMART_domains:SM00855,Superfamily_domains:SSF53254	.	.	ENSP00000376840	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000393132	Transcript	.	.	ENSG00000172331	1093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMGE_HUMAN	BPGM	HGNC	C9JH23_HUMAN	.	UPI0000163BD9	SNV	BPGM,synonymous_variant,p.%3D,ENST00000344924,;BPGM,synonymous_variant,p.%3D,ENST00000393132,;BPGM,synonymous_variant,p.%3D,ENST00000418040,;BPGM,downstream_gene_variant,,ENST00000443095,;	810	277	265	SUCCESS
SNX13	23161	.	GRCh37	7	17890006	17890006	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	70	0	ENST00000428135.3:c.1029A>G	p.Val343=	p.V343=	ENST00000428135	NM_015132.4	343	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS47551.1	1029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACATACCTT	NONE	.	.	hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26	.	.	ENSP00000398789	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000428135	Transcript	.	.	ENSG00000071189	21335	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX13_HUMAN	SNX13	HGNC	B3KN60_HUMAN	.	UPI000002B3E8	SNV	SNX13,synonymous_variant,p.%3D,ENST00000428135,;SNX13,synonymous_variant,p.%3D,ENST00000409389,;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;	1228	70	56	SUCCESS
HDAC9	9734	.	GRCh37	7	18869095	18869095	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	62	0	ENST00000432645.2:c.2381T>A	p.Phe794Tyr	p.F794Y	ENST00000432645	NM_058176.2	794	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS47553.1	2390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTTTTTTA	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768,Prints_domain:PR01270	.	.	ENSP00000408617	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.63)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Phe753Tyr,ENST00000401921,;HDAC9,missense_variant,p.Phe794Tyr,ENST00000406451,;HDAC9,missense_variant,p.Phe794Tyr,ENST00000432645,;HDAC9,missense_variant,p.Phe797Tyr,ENST00000441542,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;HDAC9,downstream_gene_variant,,ENST00000461159,;	2390	62	61	SUCCESS
SKAP2	8935	.	GRCh37	7	26765154	26765154	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1369467943	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	57	0	ENST00000345317.2:c.689A>G	p.Tyr230Cys	p.Y230C	ENST00000345317	NM_003930.3	230	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5400.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATAATCC	NONE	.	.	hmmpanther:PTHR15129:SF2,hmmpanther:PTHR15129	.	.	ENSP00000005587	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000345317	Transcript	.	.	ENSG00000005020	15687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.264)	.	deleterious(0.01)	.	SKAP2_HUMAN	SKAP2	HGNC	B7Z5R3_HUMAN	.	UPI0000073C8C	SNV	SKAP2,missense_variant,p.Tyr58Cys,ENST00000539623,;SKAP2,missense_variant,p.Tyr230Cys,ENST00000345317,;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,downstream_gene_variant,,ENST00000495802,;SKAP2,downstream_gene_variant,,ENST00000468712,;	1003	57	39	SUCCESS
DPY19L2P1	554236	.	GRCh37	7	35131548	35131548	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs757517545	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	92	283	0	ENST00000436258.1:n.1822C>A		p.*608*	ENST00000436258				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGAAGAC	NONE	byFrequency	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	rs757517545	3/3	PASS	ENST00000436258	Transcript	.	.	ENSG00000189212	22305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPY19L2P1	HGNC	.	.	.	SNV	DPY19L2P1,non_coding_transcript_exon_variant,,ENST00000458672,;DPY19L2P1,non_coding_transcript_exon_variant,,ENST00000436258,;DPY19L2P1,non_coding_transcript_exon_variant,,ENST00000454445,;	1822	283	206	SUCCESS
GLI3	2737	.	GRCh37	7	42004352	42004352	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	78	200	0	ENST00000395925.3:c.4319C>A	p.Ser1440Tyr	p.S1440Y	ENST00000395925	NM_000168.5	1440	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5465.1	4319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGAGTAA	NONE	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.19)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Ser1440Tyr,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	4404	200	176	SUCCESS
PCLO	27445	.	GRCh37	7	82585867	82585867	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	55	1	ENST00000333891.9:c.4402A>G	p.Ile1468Val	p.I1468V	ENST00000333891	NM_033026.5	1468	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47630.1	4402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ile1468Val,ENST00000333891,;PCLO,missense_variant,p.Ile1468Val,ENST00000423517,;	4740	56	72	SUCCESS
PTK2B	2185	.	GRCh37	8	27255270	27255270	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	90	258	0	ENST00000346049.5:c.169A>T	p.Lys57Ter	p.K57*	ENST00000346049	NM_173176.2	57	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS6057.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCAAACTG	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00295,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF94,PROSITE_profiles:PS50057	.	.	ENSP00000380638	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000397501	Transcript	.	.	ENSG00000120899	9612	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAK2_HUMAN	PTK2B	HGNC	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN	.	UPI000000D9EC	SNV	PTK2B,stop_gained,p.Lys57Ter,ENST00000338238,;PTK2B,stop_gained,p.Lys57Ter,ENST00000517339,;PTK2B,stop_gained,p.Lys57Ter,ENST00000420218,;PTK2B,stop_gained,p.Lys57Ter,ENST00000522517,;PTK2B,stop_gained,p.Lys57Ter,ENST00000544172,;PTK2B,stop_gained,p.Lys57Ter,ENST00000412793,;PTK2B,stop_gained,p.Lys57Ter,ENST00000397501,;PTK2B,stop_gained,p.Lys57Ter,ENST00000521164,;PTK2B,stop_gained,p.Lys57Ter,ENST00000522338,;PTK2B,stop_gained,p.Lys57Ter,ENST00000346049,;PTK2B,downstream_gene_variant,,ENST00000496920,;	977	258	215	SUCCESS
SVEP1	79987	.	GRCh37	9	113173839	113173839	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	39	75	0	ENST00000374469.1:c.6083A>G	p.Tyr2028Cys	p.Y2028C	ENST00000374469		2028	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS48004.1	6152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTAACCA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	37/48	.	.	.	.	.	.	.	.	.	37/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Tyr2051Cys,ENST00000401783,;SVEP1,missense_variant,p.Tyr2028Cys,ENST00000374469,;SVEP1,5_prime_UTR_variant,,ENST00000297826,;	6489	75	58	SUCCESS
TTC16	158248	.	GRCh37	9	130493535	130493535	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	47	275	0	ENST00000373289.3:c.2473G>C	p.Gly825Arg	p.G825R	ENST00000373289	NM_144965.1	825	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS6875.1	2473	RADIA|MUTECT|MUSE	.	GCCAGGGCCAG	NONE	.	.	.	.	.	ENSP00000362386	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000373289	Transcript	.	.	ENSG00000167094	26536	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.11)	.	tolerated(0.25)	.	TTC16_HUMAN	TTC16	HGNC	.	.	UPI000006FE14	SNV	TTC16,missense_variant,p.Gly825Arg,ENST00000373289,;TOR2A,downstream_gene_variant,,ENST00000336067,;TOR2A,downstream_gene_variant,,ENST00000458505,;TOR2A,downstream_gene_variant,,ENST00000373281,;TTC16,downstream_gene_variant,,ENST00000393748,;TOR2A,downstream_gene_variant,,ENST00000373284,;TTC16,non_coding_transcript_exon_variant,,ENST00000488285,;TTC16,non_coding_transcript_exon_variant,,ENST00000489226,;TOR2A,downstream_gene_variant,,ENST00000463256,;TOR2A,downstream_gene_variant,,ENST00000494135,;TOR2A,downstream_gene_variant,,ENST00000496460,;TOR2A,downstream_gene_variant,,ENST00000472723,;TOR2A,downstream_gene_variant,,ENST00000493439,;TOR2A,downstream_gene_variant,,ENST00000463577,;	2553	275	171	SUCCESS
ZDHHC12	84885	.	GRCh37	9	131483968	131483968	+	synonymous_variant	Silent	SNP	C	C	T	rs752723276	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	26	528	0	ENST00000372663.4:c.444G>A	p.Leu148=	p.L148=	ENST00000372663	NM_032799.4	148	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6909.1	444	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCAGCGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22883:SF33,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000361748	.	4/5	.	.	.	.	.	.	.	.	rs752723276	4/5	PASS	ENST00000372663	Transcript	.	.	ENSG00000160446	19159	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZDH12_HUMAN	ZDHHC12	HGNC	.	.	UPI000013E086	SNV	ZDHHC12,synonymous_variant,p.%3D,ENST00000372667,;ZDHHC12,synonymous_variant,p.%3D,ENST00000406904,;ZDHHC12,synonymous_variant,p.%3D,ENST00000372672,;ZDHHC12,synonymous_variant,p.%3D,ENST00000372663,;ZDHHC12,synonymous_variant,p.%3D,ENST00000452105,;PKN3,downstream_gene_variant,,ENST00000291906,;RP11-545E17.3,upstream_gene_variant,,ENST00000443631,;ZDHHC12,non_coding_transcript_exon_variant,,ENST00000467312,;PKN3,downstream_gene_variant,,ENST00000483521,;PKN3,downstream_gene_variant,,ENST00000485301,;	457	528	229	SUCCESS
TEK	7010	.	GRCh37	9	27157964	27157964	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369048700	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	53	253	1	ENST00000380036.4:c.188C>A	p.Ala63Asp	p.A63D	ENST00000380036	NM_000459.3	63	gCc/gAc	0	G:0	.	.	.	.	A	A/D	protein_coding	YES	CCDS6519.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCCTTAA	NONE	byCluster	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF10430	.	G:0.0001	ENSP00000369375	.	2/23	.	.	.	.	.	.	.	.	rs369048700	2/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.24)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Ala63Asp,ENST00000406359,;TEK,missense_variant,p.Ala63Asp,ENST00000380036,;TEK,intron_variant,,ENST00000519097,;TEK,intron_variant,,ENST00000519080,;	630	254	162	SUCCESS
FAM205B	0	.	GRCh37	9	34837695	34837695	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	T	rs746483381	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	66	160	0	ENST00000399773.6:n.146G>A		p.X49_splice	ENST00000399773		49		0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACGCTTA	NONE	byFrequency	.	.	.	.	.	.	2/4	.	.	.	.	.	.	.	.	rs746483381	2/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,splice_region_variant,,ENST00000378786,;FAM205B,splice_region_variant,,ENST00000455647,;FAM205B,splice_region_variant,,ENST00000399773,;	146	160	119	SUCCESS
TLE1	7088	.	GRCh37	9	84208091	84208091	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	38	209	0	ENST00000376499.3:c.1430A>G	p.Gln477Arg	p.Q477R	ENST00000376499	NM_005077.3	477	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS6661.1	1430	RADIA|MUTECT|MUSE	.	TGATCTGGCGA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR10814	.	.	ENSP00000365682	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.855)	.	tolerated(0.05)	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,missense_variant,p.Gln477Arg,ENST00000376499,;	2495	209	116	SUCCESS
TLE1	7088	.	GRCh37	9	84208095	84208095	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756362994	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	208	0	ENST00000376499.3:c.1426C>A	p.Arg476Ser	p.R476S	ENST00000376499	NM_005077.3	476	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS6661.1	1426	RADIA|MUTECT|MUSE	.	CTGGCGAGCAT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR10814	.	.	ENSP00000365682	.	15/20	.	.	.	.	.	.	.	.	rs756362994	15/20	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.732)	.	deleterious(0)	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,missense_variant,p.Arg476Ser,ENST00000376499,;	2491	208	117	SUCCESS
PIN4	5303	.	GRCh37	X	71401594	71401594	+	synonymous_variant	Silent	SNP	C	C	A	rs375360841	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	110	191	0	ENST00000373669.2:c.34C>A	p.Arg12=	p.R12=	ENST00000373669	NM_006223.3	12	Cgg/Agg	0	G:0.0005	.	.	.	.	A	R	protein_coding	YES	CCDS14417.1	34	RADIA|MUTECT|MUSE	.	TTGTACGGCAA	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000362773	.	1/4	.	.	.	.	.	.	.	.	rs375360841	1/4	PASS	ENST00000373669	Transcript	.	.	ENSG00000102309	8992	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIN4_HUMAN	PIN4	HGNC	A8E0G8_HUMAN	.	UPI00002263A9	SNV	PIN4,synonymous_variant,p.%3D,ENST00000423432,;PIN4,synonymous_variant,p.%3D,ENST00000373669,;PIN4,synonymous_variant,p.%3D,ENST00000218432,;PIN4,upstream_gene_variant,,ENST00000446576,;PIN4,upstream_gene_variant,,ENST00000496835,;PIN4,synonymous_variant,p.%3D,ENST00000373662,;PIN4,upstream_gene_variant,,ENST00000439980,;	66	191	114	SUCCESS
TUBGCP2	10844	.	GRCh37	10	135113524	135113524	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1287254836	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	47	114	2	ENST00000252936.3:c.244G>A	p.Val82Met	p.V82M	ENST00000252936		82	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS58105.1	244	RADIA|SOMATICSNIPER|VARSCANS	.	GTACACCAGCG	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF13	.	.	ENSP00000446093	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000543663	Transcript	.	.	ENSG00000130640	18599	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.882)	.	tolerated(0.07)	.	GCP2_HUMAN	TUBGCP2	HGNC	B3KTU7_HUMAN	.	UPI00020651C0	SNV	TUBGCP2,missense_variant,p.Val82Met,ENST00000252936,;TUBGCP2,missense_variant,p.Val82Met,ENST00000368563,;TUBGCP2,missense_variant,p.Val82Met,ENST00000543663,;TUBGCP2,5_prime_UTR_variant,,ENST00000417178,;RP11-122K13.12,upstream_gene_variant,,ENST00000424450,;TUBGCP2,non_coding_transcript_exon_variant,,ENST00000470829,;TUBGCP2,missense_variant,p.Val82Met,ENST00000482278,;TUBGCP2,3_prime_UTR_variant,,ENST00000487796,;TUBGCP2,downstream_gene_variant,,ENST00000480198,;	284	116	105	SUCCESS
GPR158	57512	.	GRCh37	10	25464385	25464385	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	52	0	ENST00000376351.3:c.36C>A	p.Leu12=	p.L12=	ENST00000376351	NM_020752.2	12	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31166.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCCTGCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000365529	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,synonymous_variant,p.%3D,ENST00000376351,;GPR158-AS1,intron_variant,,ENST00000449643,;	395	52	53	SUCCESS
RET	5979	.	GRCh37	10	43600449	43600449	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	56	0	ENST00000355710.3:c.675G>A	p.Thr225=	p.T225=	ENST00000355710	NM_020975.4	225	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7200.1	675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACGCGCTG	NONE	.	.	Superfamily_domains:SSF49313,PIRSF_domain:PIRSF000631,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416,PROSITE_profiles:PS50268	.	.	ENSP00000347942	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000355710	Transcript	1	.	ENSG00000165731	9967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET_HUMAN	RET	HGNC	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	.	UPI00001336E1	SNV	RET,synonymous_variant,p.%3D,ENST00000340058,;RET,synonymous_variant,p.%3D,ENST00000355710,;RET,intron_variant,,ENST00000498820,;RET,non_coding_transcript_exon_variant,,ENST00000479913,;	907	56	34	SUCCESS
OR13A1	79290	.	GRCh37	10	45799736	45799736	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	30	136	2	ENST00000374401.2:c.135A>G	p.Leu45=	p.L45=	ENST00000374401		45	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31188.1	135	RADIA|VARSCANS	.	CTGAATAAGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF81,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000451950	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000553795	Transcript	.	.	ENSG00000256574	14772	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O13A1_HUMAN	OR13A1	HGNC	.	.	UPI000003FE0F	SNV	OR13A1,synonymous_variant,p.%3D,ENST00000374401,;OR13A1,synonymous_variant,p.%3D,ENST00000553795,;OR13A1,synonymous_variant,p.%3D,ENST00000536058,;	444	138	119	SUCCESS
RBP3	5949	.	GRCh37	10	48389747	48389747	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	55	0	ENST00000224600.4:c.1131G>A	p.Gln377=	p.Q377=	ENST00000224600	NM_002900.2	377	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS7218.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCTGCAG	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.30.750.44,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,synonymous_variant,p.%3D,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	1245	55	36	SUCCESS
WDFY4	57705	.	GRCh37	10	50022037	50022037	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	36	0	ENST00000325239.5:c.5250G>A	p.Gln1750=	p.Q1750=	ENST00000325239	NM_020945.1	1750	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS44385.1	5250	MUTECT|MUSE	.	CTGCAGAGGCA	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	30/61	.	.	.	.	.	.	.	.	.	30/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;	5277	36	14	SUCCESS
RTKN2	219790	.	GRCh37	10	63957724	63957724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	163	1	ENST00000373789.3:c.1773G>T	p.Arg591Ser	p.R591S	ENST00000373789	NM_145307.2	591	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS7263.1	1773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGCCTTGG	NONE	.	.	.	.	.	ENSP00000362894	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,missense_variant,p.Arg591Ser,ENST00000373789,;RTKN2,intron_variant,,ENST00000395265,;RTKN2,intron_variant,,ENST00000315289,;	1870	164	97	SUCCESS
CDH23	64072	.	GRCh37	10	73498388	73498388	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1564768161	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	49	2	ENST00000224721.6:c.4358C>T	p.Ala1453Val	p.A1453V	ENST00000224721	NM_022124.5	1453	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	.	.	4358	SOMATICSNIPER|VARSCANS	.	TGATGCTGGCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000224721	.	34/69	.	.	.	.	.	.	.	.	.	34/69	PASS	ENST00000224721	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.248)	.	tolerated(0.08)	.	.	CDH23	HGNC	.	.	UPI0002B831D5	SNV	CDH23,missense_variant,p.Ala1453Val,ENST00000224721,;C10orf105,upstream_gene_variant,,ENST00000398786,;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;	4363	51	35	SUCCESS
KAT6B	23522	.	GRCh37	10	76789864	76789864	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	52	1	ENST00000287239.4:c.5282G>A	p.Ser1761Asn	p.S1761N	ENST00000287239	NM_001256468.1	1761	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS7345.1	5282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGCAGCA	NONE	.	.	hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615	.	.	ENSP00000287239	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	SNV	KAT6B,missense_variant,p.Ser1578Asn,ENST00000372711,;KAT6B,missense_variant,p.Ser1469Asn,ENST00000372714,;KAT6B,missense_variant,p.Ser1469Asn,ENST00000372725,;KAT6B,missense_variant,p.Ser1469Asn,ENST00000372724,;KAT6B,missense_variant,p.Ser1761Asn,ENST00000287239,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;KAT6B,downstream_gene_variant,,ENST00000490365,;	5771	53	30	SUCCESS
SORBS1	10580	.	GRCh37	10	97101323	97101323	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs781314841	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	78	1	ENST00000361941.3:c.2542G>A	p.Glu848Lys	p.E848K	ENST00000361941	NM_001034954.1	848	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31255.1	2542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTCGATGT	NONE	byFrequency	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF4,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000360293	.	27/33	.	.	.	.	.	.	.	.	rs781314841	27/33	PASS	ENST00000371247	Transcript	.	.	ENSG00000095637	14565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	SRBS1_HUMAN	SORBS1	HGNC	.	.	UPI000013D6B7	SNV	SORBS1,missense_variant,p.Glu625Lys,ENST00000371239,;SORBS1,missense_variant,p.Glu1108Lys,ENST00000607232,;SORBS1,missense_variant,p.Glu699Lys,ENST00000353505,;SORBS1,missense_variant,p.Glu802Lys,ENST00000371227,;SORBS1,missense_variant,p.Glu498Lys,ENST00000371241,;SORBS1,missense_variant,p.Glu699Lys,ENST00000371245,;SORBS1,missense_variant,p.Glu595Lys,ENST00000306402,;SORBS1,missense_variant,p.Glu848Lys,ENST00000371247,;SORBS1,missense_variant,p.Glu660Lys,ENST00000347291,;SORBS1,missense_variant,p.Glu848Lys,ENST00000361941,;SORBS1,missense_variant,p.Glu870Lys,ENST00000277982,;SORBS1,missense_variant,p.Glu818Lys,ENST00000393949,;SORBS1,missense_variant,p.Glu818Lys,ENST00000354106,;SORBS1,missense_variant,p.Glu630Lys,ENST00000371249,;SORBS1,missense_variant,p.Glu870Lys,ENST00000371246,;SORBS1,downstream_gene_variant,,ENST00000371228,;SORBS1,downstream_gene_variant,,ENST00000474353,;	2732	79	55	SUCCESS
NLRX1	79671	.	GRCh37	11	119052990	119052990	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	52	0	ENST00000292199.2:c.2542G>A	p.Gly848Ser	p.G848S	ENST00000292199	NM_024618.2	848	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS8416.1	2542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGGTGAC	NONE	.	.	hmmpanther:PTHR24106:SF17,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000387334	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000409109	Transcript	.	.	ENSG00000160703	29890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	tolerated(0.14)	.	NLRX1_HUMAN	NLRX1	HGNC	C9JQE9_HUMAN,C9JLK8_HUMAN,C9J0R6_HUMAN,B7Z889_HUMAN	.	UPI0000161217	SNV	NLRX1,missense_variant,p.Gly848Ser,ENST00000292199,;NLRX1,missense_variant,p.Gly848Ser,ENST00000409991,;NLRX1,missense_variant,p.Gly848Ser,ENST00000409265,;NLRX1,missense_variant,p.Gly848Ser,ENST00000525863,;NLRX1,missense_variant,p.Gly848Ser,ENST00000409109,;PDZD3,upstream_gene_variant,,ENST00000525131,;PDZD3,upstream_gene_variant,,ENST00000392817,;PDZD3,upstream_gene_variant,,ENST00000322712,;PDZD3,upstream_gene_variant,,ENST00000355547,;PDZD3,upstream_gene_variant,,ENST00000531114,;NLRX1,downstream_gene_variant,,ENST00000469103,;PDZD3,upstream_gene_variant,,ENST00000526279,;PDZD3,upstream_gene_variant,,ENST00000527308,;PDZD3,upstream_gene_variant,,ENST00000529573,;PDZD3,upstream_gene_variant,,ENST00000526836,;PDZD3,upstream_gene_variant,,ENST00000529098,;PDZD3,upstream_gene_variant,,ENST00000527028,;PDZD3,upstream_gene_variant,,ENST00000527951,;PDZD3,upstream_gene_variant,,ENST00000528730,;PDZD3,upstream_gene_variant,,ENST00000534790,;NLRX1,downstream_gene_variant,,ENST00000481860,;PDZD3,upstream_gene_variant,,ENST00000533688,;	3129	52	24	SUCCESS
CTSD	1509	.	GRCh37	11	1778644	1778644	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371522391	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	56	0	ENST00000236671.2:c.614G>A	p.Arg205His	p.R205H	ENST00000236671	NM_001909.4	205	cGc/cAc	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS7725.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCGGGGG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50630,Gene3D:2.40.70.10,Pfam_domain:PF00026,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF230	.	T:0	ENSP00000236671	.	5/9	.	.	.	.	.	.	.	.	rs371522391	5/9	PASS	ENST00000236671	Transcript	.	.	ENSG00000117984	2529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.07)	.	CATD_HUMAN	CTSD	HGNC	F8WD96_HUMAN,F8W787_HUMAN	.	UPI00000463E2	SNV	CTSD,missense_variant,p.Arg170His,ENST00000367196,;RP11-295K3.1,missense_variant,p.Arg76His,ENST00000427721,;CTSD,missense_variant,p.Arg205His,ENST00000236671,;CTSD,missense_variant,p.Arg190His,ENST00000438213,;CTSD,upstream_gene_variant,,ENST00000429746,;AC068580.6,upstream_gene_variant,,ENST00000449248,;CTSD,missense_variant,p.Arg205His,ENST00000433655,;CTSD,upstream_gene_variant,,ENST00000497544,;	747	56	63	SUCCESS
PAX6	5080	.	GRCh37	11	31815289	31815289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	151	2	ENST00000241001.8:c.827G>T	p.Arg276Ile	p.R276I	ENST00000241001		276	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS31452.1	869	RADIA|SOMATICSNIPER|VARSCANS	.	CCTGTCTTCTC	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF294	.	.	ENSP00000404100	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000419022	Transcript	.	.	ENSG00000007372	8620	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	PAX6_HUMAN	PAX6	HGNC	Q6VMP0_HUMAN,F1T0F8_HUMAN,E5LBD7_HUMAN,B1B1I9_HUMAN,B1B1I8_HUMAN	.	UPI000002B0A0	SNV	PAX6,missense_variant,p.Arg276Ile,ENST00000379111,;PAX6,missense_variant,p.Arg290Ile,ENST00000379107,;PAX6,missense_variant,p.Arg276Ile,ENST00000379123,;PAX6,missense_variant,p.Arg276Ile,ENST00000379109,;PAX6,missense_variant,p.Arg276Ile,ENST00000379132,;PAX6,missense_variant,p.Arg276Ile,ENST00000241001,;PAX6,missense_variant,p.Arg290Ile,ENST00000419022,;PAX6,missense_variant,p.Arg290Ile,ENST00000379115,;PAX6,missense_variant,p.Arg290Ile,ENST00000379129,;PAX6,downstream_gene_variant,,ENST00000455099,;PAX6,non_coding_transcript_exon_variant,,ENST00000530373,;PAX6,non_coding_transcript_exon_variant,,ENST00000531910,;PAX6,downstream_gene_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000464174,;PAX6,non_coding_transcript_exon_variant,,ENST00000532916,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,upstream_gene_variant,,ENST00000474783,;	1338	153	124	SUCCESS
OR52N4	390072	.	GRCh37	11	5776243	5776243	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	119	0	ENST00000317254.3:c.273C>G	p.Leu91=	p.L91=	ENST00000317254	NM_001005175.3	91	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS44528.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCAAGGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF74,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323224	.	1/1	.	.	.	.	.	.	.	.	COSM1509088	1/1	PASS	ENST00000317254	Transcript	.	.	ENSG00000181074	15230	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	O52N4_HUMAN	OR52N4	HGNC	.	.	UPI00001AF18B	SNV	OR52N4,synonymous_variant,p.%3D,ENST00000317254,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	321	119	71	SUCCESS
UBXN1	51035	.	GRCh37	11	62445985	62445985	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	114	2	ENST00000301935.5:c.202G>T	p.Glu68Ter	p.E68*	ENST00000301935	NM_001286077.1	68	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8029.1	202	RADIA|SOMATICSNIPER|VARSCANS	.	TTGCTCTGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13020	.	.	ENSP00000294119	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000294119	Transcript	.	.	ENSG00000162191	18402	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBXN1_HUMAN	UBXN1	HGNC	.	.	UPI000006DE59	SNV	UBXN1,stop_gained,p.Glu68Ter,ENST00000294119,;UBXN1,stop_gained,p.Glu68Ter,ENST00000301935,;UBXN1,stop_gained,p.Glu68Ter,ENST00000534176,;UBXN1,stop_gained,p.Glu68Ter,ENST00000529640,;C11orf83,downstream_gene_variant,,ENST00000531323,;C11orf83,downstream_gene_variant,,ENST00000377953,;UBXN1,upstream_gene_variant,,ENST00000533000,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525004,;UBXN1,non_coding_transcript_exon_variant,,ENST00000524762,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000531625,;UBXN1,non_coding_transcript_exon_variant,,ENST00000531056,;UBXN1,non_coding_transcript_exon_variant,,ENST00000528907,;UBXN1,non_coding_transcript_exon_variant,,ENST00000527421,;UBXN1,non_coding_transcript_exon_variant,,ENST00000436354,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525717,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533908,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000526919,;	334	116	58	SUCCESS
STIP1	10963	.	GRCh37	11	63964989	63964989	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	97	1	ENST00000305218.4:c.824A>G	p.Tyr275Cys	p.Y275C	ENST00000305218	NM_006819.2	275	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8058.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACTACAATA	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF296,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000305958	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000305218	Transcript	.	.	ENSG00000168439	11387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	STIP1_HUMAN	STIP1	HGNC	.	.	UPI000012D225	SNV	STIP1,missense_variant,p.Tyr251Cys,ENST00000538945,;STIP1,missense_variant,p.Tyr275Cys,ENST00000305218,;STIP1,missense_variant,p.Tyr322Cys,ENST00000358794,;STIP1,upstream_gene_variant,,ENST00000540887,;STIP1,downstream_gene_variant,,ENST00000543847,;STIP1,non_coding_transcript_exon_variant,,ENST00000544739,;STIP1,non_coding_transcript_exon_variant,,ENST00000537479,;STIP1,downstream_gene_variant,,ENST00000540501,;STIP1,non_coding_transcript_exon_variant,,ENST00000538497,;STIP1,intron_variant,,ENST00000536973,;STIP1,upstream_gene_variant,,ENST00000355603,;STIP1,downstream_gene_variant,,ENST00000540736,;	971	98	62	SUCCESS
NRXN2	9379	.	GRCh37	11	64434901	64434901	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143130600	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	73	0	ENST00000265459.6:c.1619G>T	p.Gly540Val	p.G540V	ENST00000265459	NM_015080.3	540	gGt/gTt	0	T:0	T:0	.	T:0	.	A	G/V	protein_coding	YES	CCDS8077.1	1619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACCCCCA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	T:0	T:0.0002	ENSP00000265459	T:0.001	9/23	.	.	.	.	.	.	.	.	rs143130600	9/23	PASS	ENST00000265459	Transcript	.	T:0.0002	ENSG00000110076	8009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	T:0	tolerated_low_confidence(0.31)	.	NRX2A_HUMAN	NRXN2	HGNC	.	.	UPI0000130AA2	SNV	NRXN2,missense_variant,p.Gly540Val,ENST00000377551,;NRXN2,missense_variant,p.Gly540Val,ENST00000265459,;NRXN2,missense_variant,p.Gly533Val,ENST00000409571,;NRXN2,missense_variant,p.Gly509Val,ENST00000377559,;NRXN2,downstream_gene_variant,,ENST00000417749,;NRXN2,downstream_gene_variant,,ENST00000442300,;NRXN2,downstream_gene_variant,,ENST00000437746,;	2081	73	44	SUCCESS
CACNA1C	775	.	GRCh37	12	2787041	2787041	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	rs768117202	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	51	0	ENST00000347598.4:c.5235+8G>A		p.X1745_splice	ENST00000347598	NM_199460.2	1745		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44788.1	.	RADIA|MUSE	uncertain_significance	GGGTGGTGCCA	NONE	.	.	.	.	.	ENSP00000266376	.	.	.	.	.	.	.	.	.	.	rs768117202	.	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	LOW	43/48	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,splice_region_variant,,ENST00000399644,;CACNA1C,splice_region_variant,,ENST00000399595,;CACNA1C,splice_region_variant,,ENST00000406454,;CACNA1C,splice_region_variant,,ENST00000399617,;CACNA1C,splice_region_variant,,ENST00000347598,;CACNA1C,splice_region_variant,,ENST00000402845,;CACNA1C,splice_region_variant,,ENST00000327702,;CACNA1C,splice_region_variant,,ENST00000399634,;CACNA1C,splice_region_variant,,ENST00000399641,;CACNA1C,splice_region_variant,,ENST00000399603,;CACNA1C,splice_region_variant,,ENST00000399629,;CACNA1C,splice_region_variant,,ENST00000399601,;CACNA1C,splice_region_variant,,ENST00000399597,;CACNA1C,splice_region_variant,,ENST00000399655,;CACNA1C,splice_region_variant,,ENST00000399606,;CACNA1C,splice_region_variant,,ENST00000399637,;CACNA1C,splice_region_variant,,ENST00000335762,;CACNA1C,splice_region_variant,,ENST00000399591,;CACNA1C,splice_region_variant,,ENST00000399621,;CACNA1C,splice_region_variant,,ENST00000399638,;CACNA1C,splice_region_variant,,ENST00000344100,;CACNA1C,splice_region_variant,,ENST00000399649,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C,downstream_gene_variant,,ENST00000465934,;	.	51	30	SUCCESS
KCNA5	3741	.	GRCh37	12	5154790	5154790	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	100	1	ENST00000252321.3:c.1477G>A	p.Gly493Ser	p.G493S	ENST00000252321	NM_002234.3	493	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS8536.1	1477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGGCAAG	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Gly493Ser,ENST00000252321,;	1706	101	64	SUCCESS
KRT6C	286887	.	GRCh37	12	52865932	52865932	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766201770	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	59	191	2	ENST00000252250.6:c.673C>A	p.Leu225Met	p.L225M	ENST00000252250	NM_173086.4	225	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS8829.1	673	RADIA|SOMATICSNIPER|VARSCANS	.	GTCCAGCTGCC	BUFFER|p.S227N|c.680G>A|3	byFrequency	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000252250	.	2/9	.	.	.	.	.	.	.	.	rs766201770	2/9	PASS	ENST00000252250	Transcript	.	.	ENSG00000170465	20406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	K2C6C_HUMAN	KRT6C	HGNC	.	.	UPI00001AE73F	SNV	KRT6C,missense_variant,p.Leu225Met,ENST00000252250,;KRT6C,upstream_gene_variant,,ENST00000553087,;	721	193	139	SUCCESS
EEA1	8411	.	GRCh37	12	93205205	93205205	+	synonymous_variant	Silent	SNP	T	T	C	rs751045550	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	47	0	ENST00000322349.8:c.2049A>G	p.Leu683=	p.L683=	ENST00000322349	NM_003566.3	683	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31874.1	2049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTTAACTC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23164:SF2,hmmpanther:PTHR23164	.	.	ENSP00000317955	.	17/29	.	.	.	.	.	.	.	.	rs751045550	17/29	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,synonymous_variant,p.%3D,ENST00000322349,;EEA1,downstream_gene_variant,,ENST00000549790,;EEA1,3_prime_UTR_variant,,ENST00000418984,;	2314	47	41	SUCCESS
KLRF1	51348	.	GRCh37	12	9997089	9997089	+	synonymous_variant	Silent	SNP	C	C	A	rs778776475	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	46	163	2	ENST00000279544.3:c.663C>A	p.Thr221=	p.T221=	ENST00000279544	NM_016523.1	221	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41750.1	663	RADIA|VARSCANS	.	GAAACCTGCAG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF134,hmmpanther:PTHR22800,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000279544	.	6/6	.	.	.	.	.	.	.	.	rs778776475	6/6	PASS	ENST00000279544	Transcript	.	.	ENSG00000150045	13342	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLRF1_HUMAN	KLRF1	HGNC	.	.	UPI0000141308	SNV	KLRF1,synonymous_variant,p.%3D,ENST00000324214,;KLRF1,synonymous_variant,p.%3D,ENST00000279544,;KLRF1,3_prime_UTR_variant,,ENST00000354855,;KLRF1,3_prime_UTR_variant,,ENST00000537723,;KLRF1,3_prime_UTR_variant,,ENST00000535631,;KLRF1,3_prime_UTR_variant,,ENST00000279545,;KLRF1,3_prime_UTR_variant,,ENST00000545196,;	727	166	107	SUCCESS
TEP1	7011	.	GRCh37	14	20874511	20874511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	44	0	ENST00000262715.5:c.616C>T	p.Pro206Ser	p.P206S	ENST00000262715	NM_007110.4	206	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9548.1	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCATTT	NONE	.	.	.	.	.	ENSP00000262715	.	3/55	.	.	.	.	.	.	.	.	.	3/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Pro206Ser,ENST00000556935,;TEP1,missense_variant,p.Pro206Ser,ENST00000262715,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,missense_variant,p.Pro206Ser,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	657	44	26	SUCCESS
MAP4K5	11183	.	GRCh37	14	50911780	50911780	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757157448	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	117	0	ENST00000013125.4:c.1318G>T	p.Val440Leu	p.V440L	ENST00000013125	NM_198794.2	440	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	.	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCACAGGCC	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,PIRSF_domain:PIRSF038172	.	.	ENSP00000013125	.	18/32	.	.	.	.	.	.	.	.	rs757157448	18/32	PASS	ENST00000013125	Transcript	.	.	ENSG00000012983	6867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.42)	.	M4K5_HUMAN	MAP4K5	HGNC	G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN	.	UPI00015DFDAA	SNV	MAP4K5,missense_variant,p.Val440Leu,ENST00000013125,;RP11-406H23.2,upstream_gene_variant,,ENST00000555257,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000554990,;	1637	117	70	SUCCESS
SYNE2	23224	.	GRCh37	14	64518505	64518505	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1567159713	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	85	321	2	ENST00000344113.4:c.7874A>T	p.Tyr2625Phe	p.Y2625F	ENST00000344113	NM_015180.4	2625	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS9761.2	7874	RADIA|SOMATICSNIPER|VARSCANS	.	GGAATATGATG	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	48/116	.	.	.	.	.	.	.	.	.	48/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.111)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Tyr2658Phe,ENST00000554584,;SYNE2,missense_variant,p.Tyr2625Phe,ENST00000358025,;SYNE2,missense_variant,p.Tyr2625Phe,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000557005,;	8104	323	218	SUCCESS
MAX	4149	.	GRCh37	14	65569118	65569119	+	5_prime_UTR_variant	5'UTR	INS	-	-	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	38	0	ENST00000358664.4:c.-62dup		p.*21*	ENST00000358664	NM_002382.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9771.1	.	INDELOCATOR*|PINDEL	.	AGGGGAGGGGG	NONE	.	.	.	.	.	ENSP00000351490	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000358664	Transcript	.	.	ENSG00000125952	6913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAX_HUMAN	MAX	HGNC	G3V570_HUMAN	.	UPI0000000C63	insertion	MAX,5_prime_UTR_variant,,ENST00000246163,;MAX,5_prime_UTR_variant,,ENST00000556443,;MAX,5_prime_UTR_variant,,ENST00000284165,;MAX,5_prime_UTR_variant,,ENST00000557746,;MAX,5_prime_UTR_variant,,ENST00000555932,;MAX,5_prime_UTR_variant,,ENST00000555667,;MAX,5_prime_UTR_variant,,ENST00000556979,;MAX,5_prime_UTR_variant,,ENST00000358402,;MAX,5_prime_UTR_variant,,ENST00000358664,;MAX,intron_variant,,ENST00000557277,;MAX,intron_variant,,ENST00000556892,;MAX,upstream_gene_variant,,ENST00000341653,;MAX,upstream_gene_variant,,ENST00000555419,;MAX,5_prime_UTR_variant,,ENST00000394606,;MAX,non_coding_transcript_exon_variant,,ENST00000556702,;MAX,non_coding_transcript_exon_variant,,ENST00000554709,;MAX,upstream_gene_variant,,ENST00000553928,;MAX,upstream_gene_variant,,ENST00000553951,;	70-71	38	41	SUCCESS
FOS	2353	.	GRCh37	14	75747795	75747795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	18	1	ENST00000303562.4:c.811G>A	p.Asp271Asn	p.D271N	ENST00000303562	NM_005252.3	271	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS9841.1	811	MUTECT|MUSE	.	TTGATGACTTC	NONE	.	.	hmmpanther:PTHR23351:SF4,hmmpanther:PTHR23351	.	.	ENSP00000306245	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303562	Transcript	.	.	ENSG00000170345	3796	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.25)	.	tolerated(0.27)	.	FOS_HUMAN	FOS	HGNC	Q76MZ0_HUMAN,Q76MY9_HUMAN,Q6FG41_HUMAN,G3V2V7_HUMAN,A8K4E2_HUMAN	.	UPI000000D8F5	SNV	FOS,missense_variant,p.Asp123Asn,ENST00000555347,;FOS,missense_variant,p.Asp157Asn,ENST00000555686,;FOS,missense_variant,p.Asp121Asn,ENST00000555672,;FOS,missense_variant,p.Asp271Asn,ENST00000303562,;FOS,missense_variant,p.Asp235Asn,ENST00000535987,;FOS,downstream_gene_variant,,ENST00000555242,;FOS,downstream_gene_variant,,ENST00000554212,;FOS,downstream_gene_variant,,ENST00000557139,;FOS,downstream_gene_variant,,ENST00000554617,;FOS,downstream_gene_variant,,ENST00000556324,;	1020	19	13	SUCCESS
SERPINA6	866	.	GRCh37	14	94772500	94772500	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	111	1	ENST00000341584.3:c.940G>T	p.Asp314Tyr	p.D314Y	ENST00000341584	NM_001756.3	314	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9924.1	940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCTCCGA	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461	.	.	ENSP00000342850	.	4/5	.	.	.	.	.	.	.	.	COSM3499289,COSM3499290	4/5	PASS	ENST00000341584	Transcript	1	.	ENSG00000170099	1540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.541)	.	deleterious(0.02)	1,1	CBG_HUMAN	SERPINA6	HGNC	G3V4V7_HUMAN	.	UPI0000127182	SNV	SERPINA6,missense_variant,p.Asp314Tyr,ENST00000341584,;SERPINA6,3_prime_UTR_variant,,ENST00000555056,;	1087	112	70	SUCCESS
NUTM1	256646	.	GRCh37	15	34642906	34642906	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs760666147	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	106	2	ENST00000333756.4:c.727C>A	p.Pro243Thr	p.P243T	ENST00000333756	NM_175741.1	243	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS32190.1	727	RADIA|SOMATICSNIPER|VARSCANS	.	TTAGCCCAGTG	NONE	.	.	hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12881	.	.	ENSP00000329448	.	3/7	.	.	.	.	.	.	.	.	rs760666147	3/7	PASS	ENST00000333756	Transcript	.	.	ENSG00000184507	29919	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NUTM1_HUMAN	NUTM1	HGNC	.	.	UPI000016159A	SNV	NUTM1,missense_variant,p.Pro271Thr,ENST00000537011,;NUTM1,missense_variant,p.Pro243Thr,ENST00000333756,;NUTM1,missense_variant,p.Pro261Thr,ENST00000438749,;	882	108	64	SUCCESS
NUTM1	256646	.	GRCh37	15	34642907	34642907	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	109	2	ENST00000333756.4:c.728C>A	p.Pro243Gln	p.P243Q	ENST00000333756	NM_175741.1	243	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS32190.1	728	RADIA|SOMATICSNIPER|VARSCANS	.	TAGCCCAGTGC	NONE	.	.	hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12881	.	.	ENSP00000329448	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000333756	Transcript	.	.	ENSG00000184507	29919	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NUTM1_HUMAN	NUTM1	HGNC	.	.	UPI000016159A	SNV	NUTM1,missense_variant,p.Pro271Gln,ENST00000537011,;NUTM1,missense_variant,p.Pro243Gln,ENST00000333756,;NUTM1,missense_variant,p.Pro261Gln,ENST00000438749,;	883	111	64	SUCCESS
PRSS41	360226	.	GRCh37	16	2854526	2854526	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs371957092	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	71	0	ENST00000399677.1:n.717T>C		p.*239*	ENST00000399677				0	C:0.0014	C:0.003	.	C:0	.	C	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGATGGCAG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0	.	C:0	4/5	.	.	.	.	.	.	.	.	rs371957092	4/5	PASS	ENST00000399677	Transcript	.	C:0.0008	ENSG00000215148	30715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	.	PRSS41	HGNC	.	.	.	SNV	PRSS41,non_coding_transcript_exon_variant,,ENST00000399677,;PRSS41,non_coding_transcript_exon_variant,,ENST00000421271,;	717	71	50	SUCCESS
TBC1D10B	26000	.	GRCh37	16	30370140	30370140	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	76	0	ENST00000409939.3:c.1643-2A>T		p.X548_splice	ENST00000409939	NM_015527.3	548		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10676.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCTGCAGG	NONE	.	.	.	.	.	ENSP00000386538	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409939	Transcript	.	.	ENSG00000169221	24510	.	.	HIGH	7/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TB10B_HUMAN	TBC1D10B	HGNC	.	.	UPI000164FA1A	SNV	TBC1D10B,splice_acceptor_variant,,ENST00000409939,;TBC1D10B,splice_acceptor_variant,,ENST00000490703,;CD2BP2,upstream_gene_variant,,ENST00000305596,;CD2BP2,upstream_gene_variant,,ENST00000569466,;RP11-347C12.10,downstream_gene_variant,,ENST00000563252,;TBC1D10B,splice_acceptor_variant,,ENST00000478158,;TBC1D10B,splice_acceptor_variant,,ENST00000475872,;TBC1D10B,non_coding_transcript_exon_variant,,ENST00000475650,;TBC1D10B,downstream_gene_variant,,ENST00000566671,;CD2BP2,upstream_gene_variant,,ENST00000564525,;TBC1D10B,downstream_gene_variant,,ENST00000464644,;	.	76	51	SUCCESS
CYLD	1540	.	GRCh37	16	50815217	50815217	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	97	0	ENST00000398568.2:c.1570G>A	p.Ala524Thr	p.A524T	ENST00000398568	NM_001042412.1	524	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45482.1	1579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGCCCTG	NONE	.	.	PROSITE_profiles:PS50245,hmmpanther:PTHR11830:SF3,hmmpanther:PTHR11830,Gene3D:2.30.30.190,Pfam_domain:PF01302,SMART_domains:SM01052,Superfamily_domains:SSF74924	.	.	ENSP00000392025	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000427738	Transcript	.	.	ENSG00000083799	2584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	CYLD_HUMAN	CYLD	HGNC	H3BTB8_HUMAN,H3BSW9_HUMAN,H3BPZ5_HUMAN	.	UPI0000073A15	SNV	CYLD,missense_variant,p.Ala524Thr,ENST00000564326,;CYLD,missense_variant,p.Ala524Thr,ENST00000569418,;CYLD,missense_variant,p.Ala524Thr,ENST00000566206,;CYLD,missense_variant,p.Ala527Thr,ENST00000540145,;CYLD,missense_variant,p.Ala527Thr,ENST00000427738,;CYLD,missense_variant,p.Ala524Thr,ENST00000398568,;CYLD,missense_variant,p.Ala527Thr,ENST00000311559,;CYLD,intron_variant,,ENST00000568704,;RP11-327F22.4,downstream_gene_variant,,ENST00000564510,;RP11-327F22.4,downstream_gene_variant,,ENST00000575917,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,downstream_gene_variant,,ENST00000563976,;	1784	97	51	SUCCESS
DDX19B	11269	.	GRCh37	16	70366883	70366883	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	344	1	ENST00000288071.6:c.1199A>C	p.Glu400Ala	p.E400A	ENST00000288071	NM_007242.5	400	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS10888.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGAACAAG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF194,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000288071	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000288071	Transcript	.	.	ENSG00000157349	2742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.3)	.	DD19B_HUMAN	DDX19B	HGNC	Q2NL95_HUMAN,H3BN59_HUMAN,B4DL69_HUMAN	.	UPI000012907F	SNV	DDX19B,missense_variant,p.Glu374Ala,ENST00000451014,;DDX19B,missense_variant,p.Glu291Ala,ENST00000393657,;DDX19B,missense_variant,p.Glu369Ala,ENST00000355992,;DDX19B,missense_variant,p.Glu291Ala,ENST00000568625,;DDX19B,missense_variant,p.Glu405Ala,ENST00000563206,;DDX19B,missense_variant,p.Glu291Ala,ENST00000563392,;DDX19B,missense_variant,p.Glu400Ala,ENST00000288071,;RP11-529K1.3,intron_variant,,ENST00000567706,;DDX19B,downstream_gene_variant,,ENST00000566216,;RP11-529K1.2,intron_variant,,ENST00000562077,;DDX19B,3_prime_UTR_variant,,ENST00000562519,;RP11-529K1.3,intron_variant,,ENST00000565116,;RP11-529K1.2,downstream_gene_variant,,ENST00000570278,;DDX19B,downstream_gene_variant,,ENST00000568408,;DDX19B,downstream_gene_variant,,ENST00000568008,;	1444	345	145	SUCCESS
TAF1C	9013	.	GRCh37	16	84214736	84214736	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	109	0	ENST00000567759.1:c.1299G>T	p.Gln433His	p.Q433H	ENST00000567759	NM_005679.3	433	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS32496.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCTGGCA	NONE	.	.	hmmpanther:PTHR15319,hmmpanther:PTHR15319:SF0	.	.	ENSP00000455265	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000567759	Transcript	.	.	ENSG00000103168	11534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	TAF1C_HUMAN	TAF1C	HGNC	H3BQZ8_HUMAN,H3BNH3_HUMAN	.	UPI0000167B3A	SNV	TAF1C,missense_variant,p.Gln50His,ENST00000568265,;TAF1C,missense_variant,p.Gln340His,ENST00000541676,;TAF1C,missense_variant,p.Gln340His,ENST00000341690,;TAF1C,missense_variant,p.Gln407His,ENST00000566732,;TAF1C,missense_variant,p.Gln433His,ENST00000378541,;TAF1C,missense_variant,p.Gln101His,ENST00000570117,;TAF1C,missense_variant,p.Gln433His,ENST00000567759,;DNAAF1,downstream_gene_variant,,ENST00000378553,;DNAAF1,downstream_gene_variant,,ENST00000564928,;TAF1C,downstream_gene_variant,,ENST00000564454,;TAF1C,downstream_gene_variant,,ENST00000564345,;TAF1C,downstream_gene_variant,,ENST00000561955,;DNAAF1,downstream_gene_variant,,ENST00000569735,;TAF1C,downstream_gene_variant,,ENST00000565544,;DNAAF1,downstream_gene_variant,,ENST00000563818,;TAF1C,3_prime_UTR_variant,,ENST00000563428,;TAF1C,non_coding_transcript_exon_variant,,ENST00000564774,;TAF1C,non_coding_transcript_exon_variant,,ENST00000564208,;TAF1C,intron_variant,,ENST00000566903,;TAF1C,intron_variant,,ENST00000544090,;TAF1C,downstream_gene_variant,,ENST00000570270,;TAF1C,downstream_gene_variant,,ENST00000537450,;TAF1C,downstream_gene_variant,,ENST00000562330,;TAF1C,downstream_gene_variant,,ENST00000569505,;DNAAF1,downstream_gene_variant,,ENST00000562024,;TAF1C,downstream_gene_variant,,ENST00000562445,;TAF1C,downstream_gene_variant,,ENST00000566183,;TAF1C,downstream_gene_variant,,ENST00000565279,;DNAAF1,downstream_gene_variant,,ENST00000570298,;TAF1C,downstream_gene_variant,,ENST00000569609,;	1482	109	51	SUCCESS
PRPF8	10594	.	GRCh37	17	1576479	1576479	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	57	1	ENST00000304992.6:c.3670C>T	p.Arg1224Cys	p.R1224C	ENST00000304992	NM_006445.3	1224	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11010.1	3670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGCTCCT	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140,Pfam_domain:PF10597,Superfamily_domains:SSF53098	.	.	ENSP00000460348	.	23/42	.	.	.	.	.	.	.	.	.	23/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	tolerated(0.06)	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,missense_variant,p.Arg1224Cys,ENST00000572621,;PRPF8,missense_variant,p.Arg1224Cys,ENST00000304992,;PRPF8,downstream_gene_variant,,ENST00000577001,;PRPF8,non_coding_transcript_exon_variant,,ENST00000574217,;PRPF8,downstream_gene_variant,,ENST00000576407,;PRPF8,downstream_gene_variant,,ENST00000576958,;	3936	58	20	SUCCESS
SPECC1	92521	.	GRCh37	17	20107972	20107972	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	56	197	2	ENST00000261503.5:c.610G>T	p.Gly204Trp	p.G204W	ENST00000261503	NM_001033553.2	204	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS32590.1	610	RADIA|SOMATICSNIPER|VARSCANS	.	CTGAGGGGACT	NONE	.	.	hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.901)	.	deleterious(0.05)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Gly204Trp,ENST00000395527,;SPECC1,missense_variant,p.Gly123Trp,ENST00000395522,;SPECC1,missense_variant,p.Gly123Trp,ENST00000395525,;SPECC1,missense_variant,p.Gly204Trp,ENST00000261503,;SPECC1,missense_variant,p.Gly204Trp,ENST00000395529,;SPECC1,missense_variant,p.Gly123Trp,ENST00000395530,;SPECC1,intron_variant,,ENST00000536879,;SPECC1,upstream_gene_variant,,ENST00000582226,;SPECC1,downstream_gene_variant,,ENST00000583463,;SPECC1,upstream_gene_variant,,ENST00000581399,;SPECC1,upstream_gene_variant,,ENST00000584527,;SPECC1,downstream_gene_variant,,ENST00000581973,;SPECC1,downstream_gene_variant,,ENST00000583482,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,non_coding_transcript_exon_variant,,ENST00000582063,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,downstream_gene_variant,,ENST00000579688,;SPECC1,downstream_gene_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000467722,;	661	199	78	SUCCESS
CCDC144CP	348254	.	GRCh37	17	20224663	20224663	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs763036863	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	94	0	ENST00000433419.2:n.34G>A		p.*12*	ENST00000433419				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGCTGAG	NONE	byFrequency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763036863	.	PASS	ENST00000580225	Transcript	.	.	ENSG00000263494	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC004702.2	Clone_based_vega_gene	.	.	.	SNV	SPECC1,downstream_gene_variant,,ENST00000395530,;AC004702.2,intron_variant,,ENST00000580225,;U6,upstream_gene_variant,,ENST00000517027,;U6,upstream_gene_variant,,ENST00000580993,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000340196,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000425519,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000433419,;	.	94	42	SUCCESS
CCT6B	10693	.	GRCh37	17	33288458	33288458	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	30	0	ENST00000314144.5:c.-46A>G		p.*16*	ENST00000314144	NM_006584.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32617.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGATTCTGA	NONE	.	.	.	.	.	ENSP00000327191	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000314144	Transcript	.	.	ENSG00000132141	1621	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPW_HUMAN	CCT6B	HGNC	J3KRI6_HUMAN	.	UPI000013F740	SNV	CCT6B,5_prime_UTR_variant,,ENST00000314144,;CCT6B,5_prime_UTR_variant,,ENST00000436961,;CCT6B,intron_variant,,ENST00000585073,;ZNF830,upstream_gene_variant,,ENST00000361952,;CCT6B,upstream_gene_variant,,ENST00000421975,;ZNF830,upstream_gene_variant,,ENST00000578339,;	71	30	31	SUCCESS
CDC6	990	.	GRCh37	17	38451607	38451607	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	53	89	2	ENST00000209728.4:c.1084-1G>A		p.X362_splice	ENST00000209728	NM_001254.3	362		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11365.1	.	SOMATICSNIPER|VARSCANS	.	CTGAAGGTATC	NONE	.	.	.	.	.	ENSP00000209728	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000209728	Transcript	.	.	ENSG00000094804	1744	.	.	HIGH	7/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDC6_HUMAN	CDC6	HGNC	J3QR52_HUMAN,J3QLN7_HUMAN,J3KTI7_HUMAN	.	UPI0000073C6C	SNV	CDC6,splice_acceptor_variant,,ENST00000209728,;CDC6,downstream_gene_variant,,ENST00000577249,;CDC6,downstream_gene_variant,,ENST00000580824,;CDC6,downstream_gene_variant,,ENST00000473555,;CDC6,splice_acceptor_variant,,ENST00000582402,;	.	91	96	SUCCESS
KRTAP4-8	728224	.	GRCh37	17	39254310	39254310	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	21	168	1	ENST00000333822.4:c.27G>A	p.Val9=	p.V9=	ENST00000333822	NM_031960.2	9	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45674.1	27	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACACGGA	NONE	.	.	hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000328444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333822	Transcript	.	.	ENSG00000204880	17230	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA48_HUMAN	KRTAP4-8	HGNC	.	.	UPI0000366BFD	SNV	KRTAP4-8,synonymous_variant,p.%3D,ENST00000333822,;KRTAP4-16P,downstream_gene_variant,,ENST00000440582,;	84	169	147	SUCCESS
KRT15	3866	.	GRCh37	17	39671127	39671127	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	10	0	ENST00000254043.3:c.1248-201A>G		p.*416*	ENST00000254043	NM_002275.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11398.1	.	MUTECT|MUSE	.	TTTGTTTTGTT	NONE	.	.	.	.	.	ENSP00000254043	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254043	Transcript	.	.	ENSG00000171346	6421	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1C15_HUMAN	KRT15	HGNC	.	.	UPI000013CE0E	SNV	KRT15,3_prime_UTR_variant,,ENST00000393981,;KRT15,intron_variant,,ENST00000393976,;KRT15,intron_variant,,ENST00000254043,;KRT15,intron_variant,,ENST00000393974,;KRT15,downstream_gene_variant,,ENST00000458290,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,downstream_gene_variant,,ENST00000470004,;KRT15,downstream_gene_variant,,ENST00000497016,;KRT15,upstream_gene_variant,,ENST00000586794,;KRT15,downstream_gene_variant,,ENST00000463447,;	.	10	16	SUCCESS
SNF8	11267	.	GRCh37	17	47014463	47014463	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	126	1	ENST00000502492.1:c.268A>T	p.Met90Leu	p.M90L	ENST00000502492		90	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS11541.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATCTCAG	NONE	.	.	hmmpanther:PTHR12806:SF0,hmmpanther:PTHR12806,Pfam_domain:PF04157,PIRSF_domain:PIRSF017215,Superfamily_domains:SSF46785	.	.	ENSP00000421380	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000502492	Transcript	.	.	ENSG00000159210	17028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.77)	.	SNF8_HUMAN	SNF8	HGNC	D6RJ86_HUMAN	.	UPI0000071826	SNV	SNF8,missense_variant,p.Met90Leu,ENST00000290330,;SNF8,missense_variant,p.Met90Leu,ENST00000502492,;AC091133.1,downstream_gene_variant,,ENST00000435491,;SNF8,splice_region_variant,,ENST00000514089,;SNF8,missense_variant,p.Met90Leu,ENST00000514929,;SNF8,missense_variant,p.Arg43Ser,ENST00000576353,;SNF8,missense_variant,p.Met90Leu,ENST00000510558,;SNF8,missense_variant,p.Arg93Ser,ENST00000507302,;SNF8,non_coding_transcript_exon_variant,,ENST00000510195,;SNF8,non_coding_transcript_exon_variant,,ENST00000512243,;SNF8,non_coding_transcript_exon_variant,,ENST00000511214,;SNF8,non_coding_transcript_exon_variant,,ENST00000506104,;SNF8,non_coding_transcript_exon_variant,,ENST00000515174,;SNF8,intron_variant,,ENST00000509995,;SNF8,intron_variant,,ENST00000573795,;SNF8,upstream_gene_variant,,ENST00000509989,;SNF8,upstream_gene_variant,,ENST00000504000,;SNF8,upstream_gene_variant,,ENST00000515572,;	651	127	117	SUCCESS
TP53	7157	.	GRCh37	17	7579389	7579399	+	frameshift_variant	Frame_Shift_Del	DEL	GGGAAGGGACA	GGGAAGGGACA	-	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	GGGAAGGGACA	GGGAAGGGACA	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	161	0	ENST00000269305.4:c.288_298del	p.Val97GlufsTer48	p.V97Efs*48	ENST00000269305	NM_001126112.2	96	tcTGTCCCTTCCCag/tcag	0	.	.	.	.	.	-	SVPSQ/SX	protein_coding	YES	CCDS11118.1	288-298	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTCTGGGAAGGGACAGAAGA	CODON|p.0?|c.1_1182del1182|6,CODON|p.G59fs*23|c.175_374del200|3,CODON|p.K101*|c.301A>T|3,CODON|p.Q100*|c.298C>T|16,CODON|p.Q100*|c.298C>T|3,CODON|p.Q100*|c.298C>T|3,CODON|p.S99F|c.296C>T|3,CODON|p.P98L|c.293C>T|3,CODON|p.P98S|c.292C>T|4,BUFFER|p.Q104*|c.310C>T|8,BUFFER|p.Q104*|c.310C>T|8,BUFFER|p.Q104*|c.310C>T|14,BUFFER|p.Y103*|c.309C>G|5,BUFFER|p.Y103*|c.309C>A|3,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|9,BUFFER|p.T102I|c.305C>T|7,BUFFER|p.K101R|c.302A>G|3,BUFFER|p.S96F|c.287C>T|3,BUFFER|p.S96P|c.286T>C|3,BUFFER|p.S95F|c.284C>T|3,BUFFER|p.S95P|c.283T>C|3,BUFFER|p.S95P|c.283T>C|3,BUFFER|p.S95P|c.283T>C|3,BUFFER|p.S94*|c.281C>G|4,BUFFER|p.S94*|c.281C>A|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000508793,;TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000413465,;TP53,frameshift_variant,p.Val97GlufsTer41,ENST00000604348,;TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000420246,;TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000269305,;TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000359597,;TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000445888,;TP53,frameshift_variant,p.Val97GlufsTer?,ENST00000503591,;TP53,frameshift_variant,p.Val97GlufsTer48,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	478-488	161	54	SUCCESS
HGS	9146	.	GRCh37	17	79660939	79660939	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	22	0	ENST00000329138.4:c.882del	p.Met295CysfsTer18	p.M295Cfs*18	ENST00000329138	NM_004712.4	294	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS11784.1	880	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGAGCCCATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF79,PIRSF_domain:PIRSF036956	.	.	ENSP00000331201	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000329138	Transcript	.	.	ENSG00000185359	4897	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HGS_HUMAN	HGS	HGNC	I3L2H4_HUMAN,I3L165_HUMAN	.	UPI000004493D	deletion	HGS,frameshift_variant,p.Met15CysfsTer18,ENST00000571237,;HGS,frameshift_variant,p.Met295CysfsTer18,ENST00000329138,;HGS,downstream_gene_variant,,ENST00000572392,;HGS,non_coding_transcript_exon_variant,,ENST00000575058,;HGS,upstream_gene_variant,,ENST00000573949,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,upstream_gene_variant,,ENST00000571885,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,downstream_gene_variant,,ENST00000576087,;HGS,downstream_gene_variant,,ENST00000576393,;HGS,upstream_gene_variant,,ENST00000571647,;HGS,upstream_gene_variant,,ENST00000570355,;	1015	22	59	SUCCESS
FASN	2194	.	GRCh37	17	80051623	80051623	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	36	38	0	ENST00000306749.2:c.305G>A	p.Gly102Glu	p.G102E	ENST00000306749	NM_004104.4	102	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS11801.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCCTCGG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.47.10,Pfam_domain:PF00109,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Gly102Glu,ENST00000306749,;	524	38	61	SUCCESS
LAMA1	284217	.	GRCh37	18	6958596	6958596	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	23	191	2	ENST00000389658.3:c.7844G>A	p.Ser2615Asn	p.S2615N	ENST00000389658	NM_005559.3	2615	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS32787.1	7844	RADIA|SOMATICSNIPER|VARSCANS	.	TCCTGCTTTCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000374309	.	55/63	.	.	.	.	.	.	.	.	.	55/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.033)	.	tolerated(0.21)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Ser2615Asn,ENST00000389658,;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000492048,;	7938	193	118	SUCCESS
LAMA1	284217	.	GRCh37	18	7002349	7002349	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	49	0	ENST00000389658.3:c.4296T>C	p.Asp1432=	p.D1432=	ENST00000389658	NM_005559.3	1432	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS32787.1	4296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACATCACA	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000374309	.	30/63	.	.	.	.	.	.	.	.	.	30/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	4390	49	33	SUCCESS
PDE4A	5141	.	GRCh37	19	10531608	10531608	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	28	1	ENST00000380702.2:c.254+3067G>T		p.*85*	ENST00000380702		56		0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45961.1	168	SOMATICSNIPER|VARSCANS	.	GCCGAGCGGGA	NONE	.	.	.	.	.	ENSP00000270474	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000352831	Transcript	.	.	ENSG00000065989	8780	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.09)	.	PDE4A_HUMAN	PDE4A	HGNC	Q86V67_HUMAN	.	UPI0000047003	SNV	PDE4A,missense_variant,p.Glu56Asp,ENST00000352831,;PDE4A,intron_variant,,ENST00000380702,;PDE4A,intron_variant,,ENST00000592685,;CDC37,upstream_gene_variant,,ENST00000593124,;	278	29	21	SUCCESS
CPAMD8	27151	.	GRCh37	19	17040002	17040002	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	33	0	ENST00000443236.1:c.3035A>T	p.Gln1012Leu	p.Q1012L	ENST00000443236	NM_015692.2	1012	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42519.1	3035	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTGCACA	NONE	.	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412	.	.	ENSP00000402505	.	24/42	.	.	.	.	.	.	.	.	.	24/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.438)	.	deleterious(0.02)	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Gln1012Leu,ENST00000443236,;	3067	33	28	SUCCESS
MYO9B	4650	.	GRCh37	19	17283665	17283665	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	37	0	ENST00000594824.1:c.2033A>G	p.Asp678Gly	p.D678G	ENST00000594824		678	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS46010.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGACCCCG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Pfam_domain:PF00063,SMART_domains:SM00242	.	.	ENSP00000471457	.	13/40	.	.	.	.	.	.	.	.	.	13/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.633)	.	deleterious(0)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Asp678Gly,ENST00000595641,;MYO9B,missense_variant,p.Asp678Gly,ENST00000397274,;MYO9B,missense_variant,p.Asp678Gly,ENST00000595618,;MYO9B,missense_variant,p.Asp678Gly,ENST00000594824,;MYO9B,missense_variant,p.Asp68Gly,ENST00000594971,;MYO9B,upstream_gene_variant,,ENST00000602177,;CTD-3032J10.4,downstream_gene_variant,,ENST00000594678,;CTD-3032J10.2,upstream_gene_variant,,ENST00000599360,;CTD-3032J10.2,upstream_gene_variant,,ENST00000597216,;MYO9B,non_coding_transcript_exon_variant,,ENST00000598101,;	2185	37	15	SUCCESS
SLC5A5	6528	.	GRCh37	19	18004537	18004537	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	125	2	ENST00000222248.3:c.1783C>T	p.Pro595Ser	p.P595S	ENST00000222248	NM_000453.2	595	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12368.1	1783	RADIA|SOMATICSNIPER|VARSCANS	.	AACTCCCCACT	NONE	.	.	hmmpanther:PTHR11819:SF18,hmmpanther:PTHR11819	.	.	ENSP00000222248	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000222248	Transcript	1	.	ENSG00000105641	11040	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.14)	.	SC5A5_HUMAN	SLC5A5	HGNC	Q9UEU3_HUMAN	.	UPI00001359F6	SNV	SLC5A5,missense_variant,p.Pro595Ser,ENST00000222248,;	2130	127	90	SUCCESS
CILP2	148113	.	GRCh37	19	19655201	19655201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	64	0	ENST00000291495.5:c.1847C>A	p.Thr616Asn	p.T616N	ENST00000291495	NM_153221.2	616	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS12405.1	1847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCTCGG	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious(0.01)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Thr616Asn,ENST00000291495,;CILP2,missense_variant,p.Thr622Asn,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1932	64	37	SUCCESS
ZNF85	7639	.	GRCh37	19	21132332	21132332	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	84	1	ENST00000328178.8:c.1012G>T	p.Gly338Ter	p.G338*	ENST00000328178	NM_003429.4	338	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS32977.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGGAGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000329793	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328178	Transcript	.	.	ENSG00000105750	13160	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF85_HUMAN	ZNF85	HGNC	M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN	.	UPI0000203897	SNV	ZNF85,stop_gained,p.Gly279Ter,ENST00000601023,;ZNF85,stop_gained,p.Gly338Ter,ENST00000328178,;ZNF85,stop_gained,p.Gly305Ter,ENST00000345030,;ZNF85,stop_gained,p.Gly286Ter,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000601284,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000595742,;	1125	85	45	SUCCESS
ZNF85	7639	.	GRCh37	19	21132585	21132585	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	113	2	ENST00000328178.8:c.1265G>A	p.Gly422Glu	p.G422E	ENST00000328178	NM_003429.4	422	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS32977.1	1265	RADIA|SOMATICSNIPER|VARSCANS	.	TACTGGAGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000329793	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328178	Transcript	.	.	ENSG00000105750	13160	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.589)	.	tolerated(0.06)	.	ZNF85_HUMAN	ZNF85	HGNC	M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN	.	UPI0000203897	SNV	ZNF85,missense_variant,p.Gly363Glu,ENST00000601023,;ZNF85,missense_variant,p.Gly422Glu,ENST00000328178,;ZNF85,missense_variant,p.Gly389Glu,ENST00000345030,;ZNF85,missense_variant,p.Gly370Glu,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000601284,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000595742,;	1378	115	76	SUCCESS
PDCD5	9141	.	GRCh37	19	33077605	33077605	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	82	0	ENST00000590247.2:c.259-159A>G		p.*87*	ENST00000590247	NM_004708.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12423.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAATAGT	NONE	.	.	.	.	.	ENSP00000466214	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000590247	Transcript	.	.	ENSG00000105185	8764	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDCD5_HUMAN	PDCD5	HGNC	K7EQA1_HUMAN	.	UPI00001313D8	SNV	PDCD5,3_prime_UTR_variant,,ENST00000419343,;PDCD5,intron_variant,,ENST00000586035,;PDCD5,intron_variant,,ENST00000592786,;PDCD5,intron_variant,,ENST00000379316,;PDCD5,intron_variant,,ENST00000590247,;PDCD5,non_coding_transcript_exon_variant,,ENST00000588622,;PDCD5,intron_variant,,ENST00000221784,;PDCD5,intron_variant,,ENST00000586316,;	.	82	43	SUCCESS
RBM42	79171	.	GRCh37	19	36120133	36120133	+	synonymous_variant	Silent	SNP	G	G	T	rs371589146	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	30	0	ENST00000262633.4:c.78G>T	p.Pro26=	p.P26=	ENST00000262633	NM_024321.3	26	ccG/ccT	0	A:0.0003	.	.	.	.	T	P	protein_coding	YES	CCDS12468.1	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGGGCAA	NONE	.	.	Low_complexity_(Seg):seg	.	A:0	ENSP00000262633	.	1/10	.	.	.	.	.	.	.	.	rs371589146	1/10	PASS	ENST00000262633	Transcript	.	.	ENSG00000126254	28117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM42_HUMAN	RBM42	HGNC	.	.	UPI000006D046	SNV	RBM42,synonymous_variant,p.%3D,ENST00000588161,;RBM42,synonymous_variant,p.%3D,ENST00000262633,;RBM42,synonymous_variant,p.%3D,ENST00000592202,;RBM42,synonymous_variant,p.%3D,ENST00000360475,;RBM42,synonymous_variant,p.%3D,ENST00000589559,;RBM42,synonymous_variant,p.%3D,ENST00000589871,;RBM42,synonymous_variant,p.%3D,ENST00000586618,;HAUS5,downstream_gene_variant,,ENST00000203166,;RBM42,non_coding_transcript_exon_variant,,ENST00000592526,;HAUS5,downstream_gene_variant,,ENST00000428854,;HAUS5,downstream_gene_variant,,ENST00000424522,;	183	30	25	SUCCESS
ZBTB32	27033	.	GRCh37	19	36207170	36207170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	79	0	ENST00000262630.3:c.1160A>T	p.Gln387Leu	p.Q387L	ENST00000262630	NM_014383.1	387	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12471.1	1160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCAGATGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF456,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000376035	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000392197	Transcript	.	.	ENSG00000011590	16763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	deleterious(0.02)	.	ZBT32_HUMAN	ZBTB32	HGNC	K7EMJ1_HUMAN	.	UPI0000038C8C	SNV	ZBTB32,missense_variant,p.Gln387Leu,ENST00000392197,;ZBTB32,missense_variant,p.Gln387Leu,ENST00000262630,;ZBTB32,missense_variant,p.Gln55Leu,ENST00000426659,;KMT2B,upstream_gene_variant,,ENST00000222270,;KMT2B,upstream_gene_variant,,ENST00000341701,;KMT2B,upstream_gene_variant,,ENST00000420124,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000442282,;KMT2B,upstream_gene_variant,,ENST00000607650,;ZBTB32,downstream_gene_variant,,ENST00000451726,;ZBTB32,3_prime_UTR_variant,,ENST00000481182,;	1478	79	77	SUCCESS
HNRNPUL1	11100	.	GRCh37	19	41785002	41785002	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	59	0	ENST00000392006.3:c.807G>A	p.Val269=	p.V269=	ENST00000392006	NM_007040.3	269	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12576.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTGAAGCA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000375863	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000392006	Transcript	.	.	ENSG00000105323	17011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRL1_HUMAN	HNRNPUL1	HGNC	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN	.	UPI000013D3F4	SNV	HNRNPUL1,synonymous_variant,p.%3D,ENST00000263367,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000602130,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000599614,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000392006,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000595018,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000597725,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000352456,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000599719,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000593587,;HNRNPUL1,intron_variant,,ENST00000378215,;HNRNPUL1,downstream_gene_variant,,ENST00000601309,;HNRNPUL1,downstream_gene_variant,,ENST00000601336,;HNRNPUL1,non_coding_transcript_exon_variant,,ENST00000594207,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000600596,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,downstream_gene_variant,,ENST00000600332,;	980	59	36	SUCCESS
PRR12	57479	.	GRCh37	19	50102767	50102767	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201161028	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	47	0	ENST00000418929.2:c.3917C>T	p.Pro1306Leu	p.P1306L	ENST00000418929	NM_020719.1	1306	cCg/cTg	0	T:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS46143.1	3917	MUTECT|MUSE	.	GCCTCCGCTCA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	.	T:0.0001	ENSP00000394510	.	5/14	.	.	.	.	.	.	.	.	rs201161028	5/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.859)	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,missense_variant,p.Pro1306Leu,ENST00000418929,;	3929	47	43	SUCCESS
PRMT1	3276	.	GRCh37	19	50180570	50180570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	31	0	ENST00000454376.2:c.33G>A	p.Met11Ile	p.M11I	ENST00000454376	NM_001536.5	11	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS46145.1	33	MUTECT|SOMATICSNIPER|MUSE	.	ATCATGGAGGT	NONE	.	.	hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF54	.	.	ENSP00000406162	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000454376	Transcript	.	.	ENSG00000126457	5187	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.093)	.	tolerated_low_confidence(0.08)	.	.	PRMT1	HGNC	H7C2I1_HUMAN,E9PQ98_HUMAN,E9PNR9_HUMAN,E9PKG1_HUMAN,E9PI83_HUMAN	.	UPI0000456CFB	SNV	PRMT1,missense_variant,p.Met7Ile,ENST00000524771,;PRMT1,missense_variant,p.Met11Ile,ENST00000391851,;PRMT1,missense_variant,p.Met11Ile,ENST00000454376,;PRMT1,intron_variant,,ENST00000528623,;PRMT1,intron_variant,,ENST00000534465,;PRMT1,intron_variant,,ENST00000532489,;PRMT1,intron_variant,,ENST00000527382,;PRMT1,intron_variant,,ENST00000529284,;PRMT1,upstream_gene_variant,,ENST00000526224,;BCL2L12,downstream_gene_variant,,ENST00000246785,;BCL2L12,downstream_gene_variant,,ENST00000594157,;PRMT1,upstream_gene_variant,,ENST00000529836,;BCL2L12,downstream_gene_variant,,ENST00000600947,;BCL2L12,downstream_gene_variant,,ENST00000598306,;BCL2L12,downstream_gene_variant,,ENST00000246784,;PRMT1,upstream_gene_variant,,ENST00000527412,;BCL2L12,downstream_gene_variant,,ENST00000441864,;AC011495.1,upstream_gene_variant,,ENST00000581740,;BCL2L12,downstream_gene_variant,,ENST00000594793,;PRMT1,missense_variant,p.Met11Ile,ENST00000534280,;PRMT1,non_coding_transcript_exon_variant,,ENST00000525915,;PRMT1,non_coding_transcript_exon_variant,,ENST00000525616,;PRMT1,non_coding_transcript_exon_variant,,ENST00000534676,;BCL2L12,downstream_gene_variant,,ENST00000598979,;	42	31	14	SUCCESS
PTOV1	53635	.	GRCh37	19	50361895	50361895	+	synonymous_variant	Silent	SNP	C	C	A	rs376020024	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	71	0	ENST00000391842.1:c.1026C>A	p.Ile342=	p.I342=	ENST00000391842	NM_017432.3	342	atC/atA	0	A:0.0005	.	.	.	.	A	I	protein_coding	YES	CCDS12782.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATCATGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12433:SF3,hmmpanther:PTHR12433,Pfam_domain:PF11232	.	A:0	ENSP00000375717	.	10/12	.	.	.	.	.	.	.	.	rs376020024	10/12	PASS	ENST00000391842	Transcript	.	.	ENSG00000104960	9632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTOV1_HUMAN	PTOV1	HGNC	.	.	UPI000000DA02	SNV	PTOV1,synonymous_variant,p.%3D,ENST00000601675,;PTOV1,synonymous_variant,p.%3D,ENST00000599732,;PTOV1,synonymous_variant,p.%3D,ENST00000600603,;PTOV1,synonymous_variant,p.%3D,ENST00000391842,;PTOV1,synonymous_variant,p.%3D,ENST00000601638,;PTOV1,synonymous_variant,p.%3D,ENST00000601093,;PTOV1,synonymous_variant,p.%3D,ENST00000221557,;PNKP,downstream_gene_variant,,ENST00000600910,;PNKP,downstream_gene_variant,,ENST00000597965,;PNKP,downstream_gene_variant,,ENST00000596014,;PNKP,downstream_gene_variant,,ENST00000600573,;PNKP,downstream_gene_variant,,ENST00000322344,;PTOV1,downstream_gene_variant,,ENST00000600793,;PTOV1,upstream_gene_variant,,ENST00000597730,;PTOV1,downstream_gene_variant,,ENST00000594151,;MIR4749,downstream_gene_variant,,ENST00000578197,;AC018766.5,intron_variant,,ENST00000593654,;AC018766.5,intron_variant,,ENST00000599259,;AC018766.5,intron_variant,,ENST00000601893,;AC018766.6,upstream_gene_variant,,ENST00000601211,;AC018766.4,downstream_gene_variant,,ENST00000596624,;PTOV1,non_coding_transcript_exon_variant,,ENST00000598325,;PTOV1,downstream_gene_variant,,ENST00000594640,;PTOV1,downstream_gene_variant,,ENST00000600105,;PTOV1,downstream_gene_variant,,ENST00000594165,;PTOV1,3_prime_UTR_variant,,ENST00000601612,;PTOV1,non_coding_transcript_exon_variant,,ENST00000597793,;PTOV1,non_coding_transcript_exon_variant,,ENST00000596424,;PNKP,downstream_gene_variant,,ENST00000599454,;PTOV1,downstream_gene_variant,,ENST00000602040,;PNKP,downstream_gene_variant,,ENST00000595081,;PNKP,downstream_gene_variant,,ENST00000593706,;PNKP,downstream_gene_variant,,ENST00000594661,;PTOV1,downstream_gene_variant,,ENST00000601501,;PNKP,downstream_gene_variant,,ENST00000593946,;PTOV1,downstream_gene_variant,,ENST00000595934,;PNKP,downstream_gene_variant,,ENST00000601816,;PTOV1,downstream_gene_variant,,ENST00000598632,;	1196	72	49	SUCCESS
ZNF845	91664	.	GRCh37	19	53854400	53854400	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756123874	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	70	275	2	ENST00000458035.1:c.472G>T	p.Gly158Trp	p.G158W	ENST00000458035	NM_138374.1	158	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS46170.1	472	RADIA|SOMATICSNIPER|VARSCANS	.	CCGAAGGGAAA	BUFFER|p.E157Q|c.469G>C|8	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	rs756123874	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.967)	.	deleterious(0.04)	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,missense_variant,p.Gly158Trp,ENST00000595091,;ZNF845,missense_variant,p.Gly158Trp,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	589	277	190	SUCCESS
ALKBH7	84266	.	GRCh37	19	6374593	6374593	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	59	1	ENST00000245812.3:c.496A>C	p.Ile166Leu	p.I166L	ENST00000245812	NM_032306.3	166	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS12163.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACATCCTT	NONE	.	.	hmmpanther:PTHR21052:SF0,hmmpanther:PTHR21052,Pfam_domain:PF13532,Gene3D:3i3qA00,Superfamily_domains:SSF51197	.	.	ENSP00000245812	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000245812	Transcript	.	.	ENSG00000125652	21306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	deleterious(0.01)	.	ALKB7_HUMAN	ALKBH7	HGNC	M0QZH2_HUMAN	.	UPI0000039ED9	SNV	ALKBH7,missense_variant,p.Ile166Leu,ENST00000245812,;ALKBH7,missense_variant,p.Ile105Leu,ENST00000599849,;ALKBH7,missense_variant,p.Ile24Leu,ENST00000596657,;PSPN,downstream_gene_variant,,ENST00000245810,;PSPN,downstream_gene_variant,,ENST00000597721,;GTF2F1,downstream_gene_variant,,ENST00000394456,;	884	60	23	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7535139	7535139	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	103	1	ENST00000359920.6:c.3477C>G	p.Leu1159=	p.L1159=	ENST00000359920	NM_001130955.1	1159	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS45946.1	3477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCAGCGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000352995	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,synonymous_variant,p.%3D,ENST00000359920,;ARHGEF18,synonymous_variant,p.%3D,ENST00000594665,;ARHGEF18,synonymous_variant,p.%3D,ENST00000319670,;CTD-2207O23.3,downstream_gene_variant,,ENST00000593531,;	3730	104	47	SUCCESS
OR7D2	162998	.	GRCh37	19	9296842	9296842	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761374360	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	73	0	ENST00000344248.2:c.385C>A	p.Pro129Thr	p.P129T	ENST00000344248	NM_175883.2	129	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS32900.1	385	MUTECT|MUSE	.	GCCACCCTCTG	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF157,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000345563	.	1/1	.	.	.	.	.	.	.	.	rs761374360	1/1	PASS	ENST00000344248	Transcript	.	.	ENSG00000188000	8378	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.963)	.	deleterious_low_confidence(0)	.	OR7D2_HUMAN	OR7D2	HGNC	.	.	UPI0000041C0C	SNV	OR7D2,missense_variant,p.Pro129Thr,ENST00000344248,;TCEB1P29,upstream_gene_variant,,ENST00000588193,;	564	73	18	SUCCESS
ATP1A2	477	.	GRCh37	1	160106381	160106381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	95	2	ENST00000361216.3:c.2585G>T	p.Gly862Val	p.G862V	ENST00000361216	NM_000702.3	862	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1196.1	2585	RADIA|SOMATICSNIPER|VARSCANS	.	GGGTGGCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Superfamily_domains:0049473,Prints_domain:PR00121	.	.	ENSP00000354490	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,missense_variant,p.Gly862Val,ENST00000361216,;ATP1A2,missense_variant,p.Gly862Val,ENST00000392233,;ATP1A2,intron_variant,,ENST00000447527,;ATP1A2,upstream_gene_variant,,ENST00000459972,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,upstream_gene_variant,,ENST00000463989,;	2674	97	83	SUCCESS
PEA15	8682	.	GRCh37	1	160178336	160178336	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	34	0	ENST00000360472.4:c.-2-2997A>G		p.*1*	ENST00000360472	NM_003768.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1199.1	.	RADIA|MUTECT|MUSE	.	AGCCCAGAGAG	NONE	.	.	.	.	.	ENSP00000353660	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360472	Transcript	.	.	ENSG00000162734	8822	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEA15_HUMAN	PEA15	HGNC	B1AKZ4_HUMAN	.	UPI000006E972	SNV	PEA15,5_prime_UTR_variant,,ENST00000368076,;PEA15,intron_variant,,ENST00000360472,;PEA15,intron_variant,,ENST00000368077,;AL121987.1,downstream_gene_variant,,ENST00000582216,;RP11-536C5.7,intron_variant,,ENST00000418602,;PEA15,upstream_gene_variant,,ENST00000488858,;	.	34	18	SUCCESS
RXRG	6258	.	GRCh37	1	165398166	165398166	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	69	1	ENST00000359842.5:c.87A>T	p.Pro29=	p.P29=	ENST00000359842	NM_001256570.1	29	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1248.1	87	RADIA|SOMATICSNIPER|VARSCANS	.	GCTGATGGGCT	NONE	.	.	hmmpanther:PTHR24083:SF83,hmmpanther:PTHR24083,Pfam_domain:PF11825	.	.	ENSP00000352900	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000359842	Transcript	.	.	ENSG00000143171	10479	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RXRG_HUMAN	RXRG	HGNC	F1D8Q7_HUMAN	.	UPI000004989F	SNV	RXRG,synonymous_variant,p.%3D,ENST00000359842,;RXRG,upstream_gene_variant,,ENST00000470566,;	390	70	66	SUCCESS
POU2F1	5451	.	GRCh37	1	167384897	167384897	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	124	0	ENST00000541643.3:c.2082T>C	p.Ser694=	p.S694=	ENST00000541643		694	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1259.2	2151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF47	.	.	ENSP00000356840	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000367866	Transcript	.	.	ENSG00000143190	9212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	POU2F1	HGNC	J3KP77_HUMAN	.	UPI0000EE3C74	SNV	POU2F1,synonymous_variant,p.%3D,ENST00000429375,;POU2F1,synonymous_variant,p.%3D,ENST00000367862,;POU2F1,synonymous_variant,p.%3D,ENST00000367866,;POU2F1,synonymous_variant,p.%3D,ENST00000541643,;POU2F1,intron_variant,,ENST00000420254,;POU2F1,intron_variant,,ENST00000443275,;POU2F1,non_coding_transcript_exon_variant,,ENST00000367865,;POU2F1,3_prime_UTR_variant,,ENST00000271411,;POU2F1,downstream_gene_variant,,ENST00000557874,;	2220	124	74	SUCCESS
ATP13A2	23400	.	GRCh37	1	17331296	17331296	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745369883	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	119	0	ENST00000326735.8:c.368C>T	p.Ser123Phe	p.S123F	ENST00000326735		123	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS175.1	368	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGACTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24093:SF86,hmmpanther:PTHR24093,Pfam_domain:PF12409,TIGRFAM_domain:TIGR01657	.	.	ENSP00000327214	.	5/29	.	.	.	.	.	.	.	.	rs745369883,COSM530477	5/29	PASS	ENST00000326735	Transcript	.	.	ENSG00000159363	30213	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.003)	.	deleterious(0.04)	0,1	AT132_HUMAN	ATP13A2	HGNC	Q8N4D4_HUMAN	.	UPI0000049724	SNV	ATP13A2,missense_variant,p.Ser123Phe,ENST00000452699,;ATP13A2,missense_variant,p.Ser116Phe,ENST00000509619,;ATP13A2,missense_variant,p.Ser123Phe,ENST00000341676,;ATP13A2,missense_variant,p.Ser35Phe,ENST00000508222,;ATP13A2,missense_variant,p.Ser123Phe,ENST00000326735,;ATP13A2,missense_variant,p.Ser27Phe,ENST00000511957,;ATP13A2,missense_variant,p.Ser99Phe,ENST00000510069,;ATP13A2,upstream_gene_variant,,ENST00000506174,;RP1-37C10.3,non_coding_transcript_exon_variant,,ENST00000446261,;ATP13A2,upstream_gene_variant,,ENST00000502860,;ATP13A2,upstream_gene_variant,,ENST00000463860,;	402	119	54	SUCCESS
BRINP3	339479	.	GRCh37	1	190423871	190423871	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	21	146	2	ENST00000367462.3:c.150T>A	p.Asp50Glu	p.D50E	ENST00000367462	NM_199051.1	50	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS1373.1	150	RADIA|SOMATICSNIPER|VARSCANS	.	CCCTTATCAGA	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	tolerated(0.11)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Ile12Lys,ENST00000534846,;BRINP3,missense_variant,p.Asp50Glu,ENST00000367462,;BRINP3,downstream_gene_variant,,ENST00000445957,;	382	148	113	SUCCESS
PTPRC	5788	.	GRCh37	1	198721765	198721765	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	148	2	ENST00000442510.2:c.3373T>A	p.Trp1125Arg	p.W1125R	ENST00000442510		1125	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS1397.2	3373	RADIA|SOMATICSNIPER|VARSCANS	.	CAAACTGGAGT	NONE	.	.	PROSITE_profiles:PS50055,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,PIRSF_domain:PIRSF002004,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000411355	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Trp962Arg,ENST00000594404,;PTPRC,missense_variant,p.Trp964Arg,ENST00000348564,;PTPRC,missense_variant,p.Trp1075Arg,ENST00000352140,;PTPRC,missense_variant,p.Trp1123Arg,ENST00000367376,;PTPRC,missense_variant,p.Trp1125Arg,ENST00000442510,;	3514	150	106	SUCCESS
PKP1	5317	.	GRCh37	1	201294914	201294914	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780885568	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	22	130	0	ENST00000263946.3:c.2117T>C	p.Leu706Pro	p.L706P	ENST00000263946	NM_000299.3	706	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS30966.1	2117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCTTCTCC	NONE	.	.	hmmpanther:PTHR10372:SF3,hmmpanther:PTHR10372,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000263946	.	13/15	.	.	.	.	.	.	.	.	rs780885568	13/15	PASS	ENST00000263946	Transcript	.	.	ENSG00000081277	9023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PKP1_HUMAN	PKP1	HGNC	B4DRX5_HUMAN	.	UPI0000131B86	SNV	PKP1,missense_variant,p.Leu706Pro,ENST00000352845,;PKP1,missense_variant,p.Leu706Pro,ENST00000263946,;PKP1,missense_variant,p.Leu685Pro,ENST00000367324,;PKP1,upstream_gene_variant,,ENST00000477817,;	2368	130	107	SUCCESS
USH2A	7399	.	GRCh37	1	215802343	215802343	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777817814	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	149	0	ENST00000307340.3:c.15332C>T	p.Thr5111Ile	p.T5111I	ENST00000307340	NM_206933.2	5111	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31025.1	15332	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGTCCCA	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	.	.	ENSP00000305941	.	71/72	.	.	.	.	.	.	.	.	rs777817814	71/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.536)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Thr5135Ile,ENST00000366943,;USH2A,missense_variant,p.Thr5111Ile,ENST00000307340,;SNORD116,downstream_gene_variant,,ENST00000365628,;	15719	149	97	SUCCESS
OBSCN	84033	.	GRCh37	1	228451857	228451857	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	55	201	2	ENST00000422127.1:c.4626G>T	p.Arg1542Ser	p.R1542S	ENST00000422127	NM_001098623.2	1542	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS59204.1	5178	RADIA|SOMATICSNIPER|VARSCANS	.	AGCAGGGAGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	18/116	.	.	.	.	.	.	.	.	.	18/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.018)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Arg198Ser,ENST00000359599,;OBSCN,missense_variant,p.Arg1542Ser,ENST00000284548,;OBSCN,missense_variant,p.Arg1542Ser,ENST00000422127,;OBSCN,missense_variant,p.Arg1726Ser,ENST00000570156,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;	5252	203	152	SUCCESS
URB2	9816	.	GRCh37	1	229770867	229770867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	98	0	ENST00000258243.2:c.507G>T	p.Leu169Phe	p.L169F	ENST00000258243	NM_014777.2	169	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31052.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTGTTTGA	NONE	.	.	hmmpanther:PTHR15682	.	.	ENSP00000258243	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000258243	Transcript	.	.	ENSG00000135763	28967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	URB2_HUMAN	URB2	HGNC	Q5VYD0_HUMAN	.	UPI000013CFBD	SNV	URB2,missense_variant,p.Leu169Phe,ENST00000258243,;	643	99	78	SUCCESS
OR2M7	391196	.	GRCh37	1	248487600	248487600	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	71	194	2	ENST00000317965.2:c.271T>C	p.Ser91Pro	p.S91P	ENST00000317965	NM_001004691.1	91	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS31111.1	271	RADIA|SOMATICSNIPER|VARSCANS	.	AATGGACTTGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317965	Transcript	.	.	ENSG00000177186	19594	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.299)	.	deleterious(0.02)	.	OR2M7_HUMAN	OR2M7	HGNC	.	.	UPI000004B236	SNV	OR2M7,missense_variant,p.Ser91Pro,ENST00000317965,;	300	196	156	SUCCESS
TNFRSF25	8718	.	GRCh37	1	6526226	6526226	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	59	0	ENST00000356876.3:c.-59G>A		p.*20*	ENST00000356876	NM_003790.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS72.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCCGCCT	NONE	.	.	.	.	.	ENSP00000367013	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000377782	Transcript	.	.	ENSG00000215788	11910	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR25_HUMAN	TNFRSF25	HGNC	B3KSV7_HUMAN	.	UPI000002B5CB	SNV	TNFRSF25,5_prime_UTR_variant,,ENST00000356876,;PLEKHG5,3_prime_UTR_variant,,ENST00000400913,;PLEKHG5,3_prime_UTR_variant,,ENST00000340850,;TNFRSF25,5_prime_UTR_variant,,ENST00000351959,;PLEKHG5,3_prime_UTR_variant,,ENST00000377748,;TNFRSF25,5_prime_UTR_variant,,ENST00000377782,;PLEKHG5,downstream_gene_variant,,ENST00000377725,;TNFRSF25,upstream_gene_variant,,ENST00000348333,;PLEKHG5,downstream_gene_variant,,ENST00000535355,;PLEKHG5,downstream_gene_variant,,ENST00000400915,;PLEKHG5,downstream_gene_variant,,ENST00000377737,;PLEKHG5,downstream_gene_variant,,ENST00000537245,;PLEKHG5,downstream_gene_variant,,ENST00000544978,;ESPN,downstream_gene_variant,,ENST00000434576,;TNFRSF25,upstream_gene_variant,,ENST00000351748,;TNFRSF25,upstream_gene_variant,,ENST00000481401,;PLEKHG5,downstream_gene_variant,,ENST00000377740,;PLEKHG5,downstream_gene_variant,,ENST00000377728,;PLEKHG5,downstream_gene_variant,,ENST00000377732,;ESPN,downstream_gene_variant,,ENST00000468561,;TNFRSF25,upstream_gene_variant,,ENST00000475730,;TNFRSF25,upstream_gene_variant,,ENST00000461703,;TNFRSF25,5_prime_UTR_variant,,ENST00000485036,;TNFRSF25,5_prime_UTR_variant,,ENST00000480393,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;TNFRSF25,upstream_gene_variant,,ENST00000453260,;TNFRSF25,upstream_gene_variant,,ENST00000502588,;TNFRSF25,upstream_gene_variant,,ENST00000414040,;TNFRSF25,upstream_gene_variant,,ENST00000515145,;TNFRSF25,upstream_gene_variant,,ENST00000453341,;PLEKHG5,downstream_gene_variant,,ENST00000487949,;TNFRSF25,upstream_gene_variant,,ENST00000510563,;TNFRSF25,upstream_gene_variant,,ENST00000469691,;TNFRSF25,upstream_gene_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000473343,;TNFRSF25,upstream_gene_variant,,ENST00000502730,;	10	59	36	SUCCESS
PRKACB	5567	.	GRCh37	1	84647892	84647892	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148797911	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	160	2	ENST00000370689.2:c.118G>A	p.Gly40Arg	p.G40R	ENST00000370689	NM_002731.2	40	Gga/Aga	0	A:0.0002	.	.	.	.	A	G/R	protein_coding	YES	CCDS693.1	259	RADIA|VARSCANS	.	ATGCCGGACTT	NONE	byCluster	.	Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR24353:SF45,hmmpanther:PTHR24353	.	A:0.0001	ENSP00000359719	.	3/10	.	.	.	.	.	.	.	.	rs148797911	3/10	PASS	ENST00000370685	Transcript	.	.	ENSG00000142875	9381	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.13)	.	KAPCB_HUMAN	PRKACB	HGNC	.	.	UPI00001A9CCB	SNV	PRKACB,missense_variant,p.Gly47Arg,ENST00000446538,;PRKACB,missense_variant,p.Gly27Arg,ENST00000417530,;PRKACB,missense_variant,p.Gly47Arg,ENST00000394838,;PRKACB,missense_variant,p.Gly87Arg,ENST00000370685,;PRKACB,missense_variant,p.Gly40Arg,ENST00000370688,;PRKACB,missense_variant,p.Gly44Arg,ENST00000370682,;PRKACB,missense_variant,p.Gly35Arg,ENST00000413538,;PRKACB,missense_variant,p.Gly28Arg,ENST00000370684,;PRKACB,missense_variant,p.Gly43Arg,ENST00000394839,;PRKACB,missense_variant,p.Gly40Arg,ENST00000370689,;PRKACB,missense_variant,p.Gly46Arg,ENST00000370680,;PRKACB,missense_variant,p.Gly44Arg,ENST00000436133,;PRKACB,missense_variant,p.Gly36Arg,ENST00000432111,;PRKACB,missense_variant,p.Gly43Arg,ENST00000450730,;PRKACB,non_coding_transcript_exon_variant,,ENST00000467507,;PRKACB,non_coding_transcript_exon_variant,,ENST00000470673,;	350	163	82	SUCCESS
SYNDIG1	79953	.	GRCh37	20	24565510	24565510	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	55	1	ENST00000376862.3:c.499A>G	p.Thr167Ala	p.T167A	ENST00000376862	NM_024893.2	167	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS13164.1	499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGACACAGAG	NONE	.	.	hmmpanther:PTHR14768,hmmpanther:PTHR14768:SF3,Low_complexity_(Seg):seg	.	.	ENSP00000366058	.	3/4	.	.	.	.	.	.	.	.	COSM576924	3/4	PASS	ENST00000376862	Transcript	.	.	ENSG00000101463	15885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.78)	.	deleterious(0.01)	1	SYNG1_HUMAN	SYNDIG1	HGNC	.	.	UPI00001285DC	SNV	SYNDIG1,missense_variant,p.Thr167Ala,ENST00000376862,;SYNDIG1,upstream_gene_variant,,ENST00000482637,;	1132	56	63	SUCCESS
PTPRA	5786	.	GRCh37	20	2988018	2988018	+	synonymous_variant	Silent	SNP	G	G	A	rs142755718	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	98	0	ENST00000380393.3:c.858G>A	p.Pro286=	p.P286=	ENST00000380393	NM_002836.3	286	ccG/ccA	0	A:0.0002	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS13038.1	858	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGGTTGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	A:0	A:0	ENSP00000369756	A:0.001	15/28	.	.	.	.	.	.	.	.	rs142755718	15/28	PASS	ENST00000380393	Transcript	.	A:0.0002	ENSG00000132670	9664	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	PTPRA_HUMAN	PTPRA	HGNC	Q5JWG3_HUMAN,Q5JWG2_HUMAN	.	UPI000007155E	SNV	PTPRA,synonymous_variant,p.%3D,ENST00000216877,;PTPRA,synonymous_variant,p.%3D,ENST00000356147,;PTPRA,synonymous_variant,p.%3D,ENST00000425918,;PTPRA,synonymous_variant,p.%3D,ENST00000399903,;PTPRA,synonymous_variant,p.%3D,ENST00000358719,;PTPRA,synonymous_variant,p.%3D,ENST00000380393,;PTPRA,synonymous_variant,p.%3D,ENST00000318266,;PTPRA,downstream_gene_variant,,ENST00000455631,;	1544	98	93	SUCCESS
DDRGK1	65992	.	GRCh37	20	3185281	3185281	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs370359432	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	25	0	ENST00000354488.3:c.-8C>G		p.*3*	ENST00000354488	NM_023935.1			0	A:0.0005	.	.	.	.	C	.	protein_coding	YES	CCDS13050.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGGCCTCA	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000346483	.	1/9	.	.	.	.	.	.	.	.	rs370359432	1/9	PASS	ENST00000354488	Transcript	.	.	ENSG00000198171	16110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDRGK_HUMAN	DDRGK1	HGNC	.	.	UPI0000001C9A	SNV	DDRGK1,5_prime_UTR_variant,,ENST00000354488,;DDRGK1,5_prime_UTR_variant,,ENST00000380201,;ITPA,upstream_gene_variant,,ENST00000399838,;ITPA,upstream_gene_variant,,ENST00000380113,;ITPA,upstream_gene_variant,,ENST00000455664,;ITPA,upstream_gene_variant,,ENST00000490838,;ITPA,upstream_gene_variant,,ENST00000460676,;ITPA,upstream_gene_variant,,ENST00000483354,;ITPA,upstream_gene_variant,,ENST00000460550,;ITPA,upstream_gene_variant,,ENST00000609835,;	51	25	20	SUCCESS
DSCAM	1826	.	GRCh37	21	42080424	42080424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	65	0	ENST00000400454.1:c.317A>T	p.Asn106Ile	p.N106I	ENST00000400454	NM_001271534.1	106	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS42929.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATTTTCA	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Asn106Ile,ENST00000400454,;	795	65	42	SUCCESS
SIK1	150094	.	GRCh37	21	44841639	44841639	+	synonymous_variant	Silent	SNP	C	C	T	rs770396993	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	104	0	ENST00000270162.6:c.378G>A	p.Ala126=	p.A126=	ENST00000270162	NM_173354.3	126	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33575.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGCGCCTC	NONE	byFrequency	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF037014,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0,PROSITE_profiles:PS50011	.	.	ENSP00000270162	.	5/14	.	.	.	.	.	.	.	.	rs770396993,COSM1414325	5/14	PASS	ENST00000270162	Transcript	.	.	ENSG00000142178	11142	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SIK1_HUMAN	SIK1	HGNC	.	.	UPI0000206F2B	SNV	SIK1,synonymous_variant,p.%3D,ENST00000270162,;SIK1,non_coding_transcript_exon_variant,,ENST00000478426,;	511	104	70	SUCCESS
AMMECR1L	83607	.	GRCh37	2	128628831	128628831	+	synonymous_variant	Silent	SNP	C	C	T	rs1432663640	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	69	0	ENST00000272647.5:c.510G>A	p.Thr170=	p.T170=	ENST00000272647	NM_001199140.1	170	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2152.1	510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAACGTGTA	NONE	.	.	PROSITE_profiles:PS51112,hmmpanther:PTHR13016,hmmpanther:PTHR13016:SF1,Pfam_domain:PF01871,Gene3D:1vajA01,TIGRFAM_domain:TIGR00296,Superfamily_domains:SSF143447	.	.	ENSP00000272647	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000272647	Transcript	.	.	ENSG00000144233	28658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMERL_HUMAN	AMMECR1L	HGNC	.	.	UPI000013D96F	SNV	AMMECR1L,synonymous_variant,p.%3D,ENST00000393001,;AMMECR1L,synonymous_variant,p.%3D,ENST00000272647,;	771	69	41	SUCCESS
NEB	4703	.	GRCh37	2	152476269	152476269	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	125	1	ENST00000172853.10:c.9839A>G	p.Tyr3280Cys	p.Y3280C	ENST00000172853		3280	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS54407.1	10568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTATTTG	BUFFER|p.?|c.10561-2A>G|3,BUFFER|p.?|c.9832-2A>G|3,BUFFER|p.?|c.10561-2A>G|3	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	73/182	.	.	.	.	.	.	.	.	.	73/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Tyr3523Cys,ENST00000603639,;NEB,missense_variant,p.Tyr3280Cys,ENST00000172853,;NEB,missense_variant,p.Tyr3523Cys,ENST00000427231,;NEB,missense_variant,p.Tyr3523Cys,ENST00000397345,;NEB,missense_variant,p.Tyr3523Cys,ENST00000604864,;NEB,missense_variant,p.Tyr3280Cys,ENST00000409198,;NEB,upstream_gene_variant,,ENST00000486320,;	10771	126	72	SUCCESS
LRP2	4036	.	GRCh37	2	170062623	170062623	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	45	171	2	ENST00000263816.3:c.7466T>A	p.Met2489Lys	p.M2489K	ENST00000263816	NM_004525.2	2489	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS2232.1	7466	RADIA|VARSCANS	.	TAATCATCTGG	BUFFER|p.M2493V|c.7477A>G|3	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	40/79	.	.	.	.	.	.	.	.	.	40/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Met2489Lys,ENST00000263816,;	7752	174	119	SUCCESS
COL5A2	1290	.	GRCh37	2	190044308	190044308	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	78	0	ENST00000374866.3:c.23C>A	p.Ala8Glu	p.A8E	ENST00000374866	NM_000393.3	8	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS33350.1	23	MUTECT|MUSE	.	GTCTTGCTTCC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000364000	.	1/54	.	.	.	.	.	.	.	.	.	1/54	PASS	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.283)	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,missense_variant,p.Ala8Glu,ENST00000374866,;	298	78	58	SUCCESS
ADAM23	8745	.	GRCh37	2	207437884	207437884	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	148	1	ENST00000264377.3:c.1702G>C	p.Asp568His	p.D568H	ENST00000264377	NM_003812.3	568	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS2369.1	1702	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGTGTGATATT	NONE	.	.	Superfamily_domains:SSF57552,SMART_domains:SM00050,Pfam_domain:PF00200,Gene3D:4.10.70.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50214	.	.	ENSP00000264377	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,missense_variant,p.Asp568His,ENST00000374415,;ADAM23,missense_variant,p.Asp568His,ENST00000374416,;ADAM23,missense_variant,p.Asp568His,ENST00000264377,;	2030	149	93	SUCCESS
SPEG	10290	.	GRCh37	2	220349004	220349004	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	88	2	ENST00000312358.7:c.6819G>A	p.Lys2273=	p.K2273=	ENST00000312358	NM_005876.4	2273	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS42824.1	6819	SOMATICSNIPER|VARSCANS	.	CCCAAGCCCCA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,synonymous_variant,p.%3D,ENST00000312358,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	6951	90	51	SUCCESS
ADCY3	109	.	GRCh37	2	25057765	25057765	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1333598498	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	62	1	ENST00000260600.5:c.1703G>A	p.Arg568His	p.R568H	ENST00000260600	NM_004036.3	568	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS1715.1	1703	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCAGGCGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	.	.	ENSP00000260600	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000260600	Transcript	.	.	ENSG00000138031	234	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.09)	.	ADCY3_HUMAN	ADCY3	HGNC	Q8NBM1_HUMAN,C9J969_HUMAN	.	UPI000013D0ED	SNV	ADCY3,missense_variant,p.Arg261His,ENST00000606682,;ADCY3,missense_variant,p.Arg568His,ENST00000260600,;ADCY3,missense_variant,p.Arg201His,ENST00000405392,;ADCY3,downstream_gene_variant,,ENST00000427849,;ADCY3,upstream_gene_variant,,ENST00000455323,;ADCY3,downstream_gene_variant,,ENST00000435135,;ADCY3,downstream_gene_variant,,ENST00000454027,;ADCY3,upstream_gene_variant,,ENST00000450524,;	2555	63	38	SUCCESS
ABHD1	84696	.	GRCh37	2	27346783	27346783	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	25	0	ENST00000316470.4:c.-34C>T		p.*12*	ENST00000316470	NM_032604.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1736.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCAGGAG	NONE	.	.	.	.	.	ENSP00000326491	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000316470	Transcript	.	.	ENSG00000143994	17553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHD1_HUMAN	ABHD1	HGNC	.	.	UPI000013FDC4	SNV	ABHD1,5_prime_UTR_variant,,ENST00000416071,;ABHD1,5_prime_UTR_variant,,ENST00000316470,;CGREF1,upstream_gene_variant,,ENST00000402550,;CGREF1,upstream_gene_variant,,ENST00000260595,;CGREF1,upstream_gene_variant,,ENST00000312734,;CGREF1,upstream_gene_variant,,ENST00000402394,;ABHD1,5_prime_UTR_variant,,ENST00000448950,;ABHD1,5_prime_UTR_variant,,ENST00000420647,;ABHD1,non_coding_transcript_exon_variant,,ENST00000489120,;CGREF1,upstream_gene_variant,,ENST00000440612,;	81	25	19	SUCCESS
ANTXR1	84168	.	GRCh37	2	69379336	69379336	+	synonymous_variant	Silent	SNP	C	C	T	rs749173652	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	58	1	ENST00000303714.4:c.987C>T	p.Ile329=	p.I329=	ENST00000303714	NM_032208.2	329	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1892.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCCTGTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16059:SF11,hmmpanther:PTHR16059,PIRSF_domain:PIRSF038023	.	.	ENSP00000301945	.	13/18	.	.	.	.	.	.	.	.	rs749173652	13/18	PASS	ENST00000303714	Transcript	.	.	ENSG00000169604	21014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANTR1_HUMAN	ANTXR1	HGNC	.	.	UPI0000049806	SNV	ANTXR1,synonymous_variant,p.%3D,ENST00000409349,;ANTXR1,synonymous_variant,p.%3D,ENST00000303714,;	1309	59	31	SUCCESS
ATP2B2	491	.	GRCh37	3	10417206	10417206	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	12	123	0	ENST00000352432.4:c.1324A>G	p.Lys442Glu	p.K442E	ENST00000352432		442	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS33701.1	1324	RADIA|MUTECT|MUSE|VARSCANS	.	GAACTTGACAA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01517,Superfamily_domains:0049473	.	.	ENSP00000353414	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.05)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Lys428Glu,ENST00000343816,;ATP2B2,missense_variant,p.Lys442Glu,ENST00000360273,;ATP2B2,missense_variant,p.Lys397Glu,ENST00000383800,;ATP2B2,missense_variant,p.Lys442Glu,ENST00000352432,;ATP2B2,missense_variant,p.Lys397Glu,ENST00000397077,;ATP2B2,missense_variant,p.Lys298Glu,ENST00000452124,;ATP2B2,missense_variant,p.Lys397Glu,ENST00000460129,;	1763	123	114	SUCCESS
CCDC58	0	.	GRCh37	3	122081820	122081820	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	83	0	ENST00000291458.5:c.379T>A	p.Trp127Arg	p.W127R	ENST00000291458	NM_001017928.2	127	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS33838.1	379	MUTECT|MUSE	.	CTTCCAGCTCC	NONE	.	.	hmmpanther:PTHR31905,Pfam_domain:PF09774	.	.	ENSP00000291458	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000291458	Transcript	.	.	ENSG00000160124	31136	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.16)	.	CCD58_HUMAN	CCDC58	HGNC	.	.	UPI000020A069	SNV	CCDC58,missense_variant,p.Trp127Arg,ENST00000291458,;CCDC58,missense_variant,p.Trp124Arg,ENST00000479414,;CCDC58,missense_variant,p.Trp36Arg,ENST00000497726,;CCDC58,missense_variant,p.Trp113Arg,ENST00000479899,;CCDC58,non_coding_transcript_exon_variant,,ENST00000460810,;CCDC58,non_coding_transcript_exon_variant,,ENST00000466854,;CCDC58,downstream_gene_variant,,ENST00000498466,;	386	83	53	SUCCESS
ALDH1L1	10840	.	GRCh37	3	125844550	125844550	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	17	138	1	ENST00000393434.2:c.1709T>C	p.Ile570Thr	p.I570T	ENST00000393434	NM_012190.3	570	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS58851.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGATGATG	NONE	.	.	hmmpanther:PTHR11699:SF120,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.605.10,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53720	.	.	ENSP00000273450	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000273450	Transcript	.	.	ENSG00000144908	3978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0)	.	AL1L1_HUMAN	ALDH1L1	HGNC	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN	.	UPI0000425C57	SNV	ALDH1L1,missense_variant,p.Ile570Thr,ENST00000393434,;ALDH1L1,missense_variant,p.Ile469Thr,ENST00000452905,;ALDH1L1,missense_variant,p.Ile580Thr,ENST00000273450,;ALDH1L1,missense_variant,p.Ile570Thr,ENST00000472186,;ALDH1L1,3_prime_UTR_variant,,ENST00000393431,;ALDH1L1,downstream_gene_variant,,ENST00000476245,;	1957	139	120	SUCCESS
P2RY1	5028	.	GRCh37	3	152553754	152553754	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	15	194	1	ENST00000305097.3:c.183A>G	p.Val61=	p.V61=	ENST00000305097	NM_002563.3	61	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS3169.1	183	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTATTCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,synonymous_variant,p.%3D,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	1019	195	144	SUCCESS
ALG3	10195	.	GRCh37	3	183963596	183963596	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	74	1	ENST00000397676.3:c.201A>G	p.Thr67=	p.T67=	ENST00000397676	NM_005787.5	67	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS46968.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTGTGTC	NONE	.	.	hmmpanther:PTHR12646:SF0,hmmpanther:PTHR12646,Pfam_domain:PF05208	.	.	ENSP00000380793	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000397676	Transcript	.	.	ENSG00000214160	23056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALG3_HUMAN	ALG3	HGNC	.	.	UPI0000125838	SNV	ALG3,synonymous_variant,p.%3D,ENST00000445626,;ALG3,synonymous_variant,p.%3D,ENST00000455059,;ALG3,synonymous_variant,p.%3D,ENST00000397676,;ALG3,intron_variant,,ENST00000446569,;ALG3,intron_variant,,ENST00000418734,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,downstream_gene_variant,,ENST00000273794,;VWA5B2,downstream_gene_variant,,ENST00000426955,;ECE2,upstream_gene_variant,,ENST00000324557,;ECE2,upstream_gene_variant,,ENST00000402825,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,upstream_gene_variant,,ENST00000463495,;ALG3,missense_variant,p.Gln55Arg,ENST00000423996,;ALG3,non_coding_transcript_exon_variant,,ENST00000482048,;ALG3,non_coding_transcript_exon_variant,,ENST00000461415,;ALG3,intron_variant,,ENST00000411922,;ALG3,intron_variant,,ENST00000488976,;ALG3,intron_variant,,ENST00000414845,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,upstream_gene_variant,,ENST00000477959,;VWA5B2,downstream_gene_variant,,ENST00000461141,;ALG3,upstream_gene_variant,,ENST00000485912,;ALG3,upstream_gene_variant,,ENST00000462735,;	232	75	69	SUCCESS
IL5RA	3568	.	GRCh37	3	3137002	3137002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	47	153	0	ENST00000256452.3:c.836C>A	p.Thr279Lys	p.T279K	ENST00000256452	NM_000564.4	279	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS2559.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGTATTG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF17,PROSITE_profiles:PS50853	.	.	ENSP00000412209	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000446632	Transcript	.	.	ENSG00000091181	6017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.04)	.	IL5RA_HUMAN	IL5RA	HGNC	C9J6C4_HUMAN,C9J3K8_HUMAN	.	UPI000013C656	SNV	IL5RA,missense_variant,p.Thr279Lys,ENST00000311981,;IL5RA,missense_variant,p.Thr279Lys,ENST00000430514,;IL5RA,missense_variant,p.Thr279Lys,ENST00000256452,;IL5RA,missense_variant,p.Thr279Lys,ENST00000446632,;IL5RA,missense_variant,p.Thr279Lys,ENST00000456302,;IL5RA,missense_variant,p.Thr279Lys,ENST00000383846,;IL5RA,missense_variant,p.Thr279Lys,ENST00000438560,;IL5RA,intron_variant,,ENST00000418488,;IL5RA,intron_variant,,ENST00000445864,;IL5RA,downstream_gene_variant,,ENST00000445701,;	1411	153	107	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274909	41274909	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	61	161	1	ENST00000349496.5:c.1159A>T	p.Asn387Tyr	p.N387Y	ENST00000349496	NM_001904.3	387	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS2694.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAATCTT	BUFFER|p.N387K|c.1161T>G|3,BUFFER|p.N387K|c.1161T>A|4	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asn387Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Asn387Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Asn387Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asn380Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asn387Tyr,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1439	162	162	SUCCESS
ULK4	54986	.	GRCh37	3	41954356	41954356	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	110	1	ENST00000301831.4:c.839G>C	p.Trp280Ser	p.W280S	ENST00000301831	NM_017886.2	280	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS43071.1	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCAAAAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000301831	.	9/37	.	.	.	.	.	.	.	.	.	9/37	PASS	ENST00000301831	Transcript	.	.	ENSG00000168038	15784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ULK4_HUMAN	ULK4	HGNC	B3KSE5_HUMAN	.	UPI0000E8267C	SNV	ULK4,missense_variant,p.Trp280Ser,ENST00000301831,;ULK4,missense_variant,p.Trp280Ser,ENST00000420927,;ULK4,non_coding_transcript_exon_variant,,ENST00000481226,;ULK4,non_coding_transcript_exon_variant,,ENST00000484323,;	1302	112	73	SUCCESS
TMEM42	131616	.	GRCh37	3	44903449	44903449	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	38	2	ENST00000302392.4:c.33C>T	p.Ala11=	p.A11=	ENST00000302392	NM_144638.1	11	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2722.1	33	SOMATICSNIPER|VARSCANS	.	GGCGCCGTGTC	NONE	.	.	hmmpanther:PTHR31965:SF1,hmmpanther:PTHR31965	.	.	ENSP00000306564	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000302392	Transcript	.	.	ENSG00000169964	28444	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM42_HUMAN	TMEM42	HGNC	.	.	UPI00000702DF	SNV	TMEM42,synonymous_variant,p.%3D,ENST00000302392,;MIR564,non_coding_transcript_exon_variant,,ENST00000385049,;TMEM42,non_coding_transcript_exon_variant,,ENST00000477126,;KIF15,intron_variant,,ENST00000422209,;	89	40	41	SUCCESS
PXK	54899	.	GRCh37	3	58395296	58395296	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	82	234	1	ENST00000356151.2:c.1346A>G	p.His449Arg	p.H449R	ENST00000356151	NM_017771.3	449	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2889.1	1346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCACCATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22999,Gene3D:1.10.510.10	.	.	ENSP00000348472	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000356151	Transcript	.	.	ENSG00000168297	23326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.3)	.	PXK_HUMAN	PXK	HGNC	U3KQS4_HUMAN	.	UPI000004A035	SNV	PXK,missense_variant,p.His312Arg,ENST00000536660,;PXK,missense_variant,p.His449Arg,ENST00000484288,;PXK,missense_variant,p.His416Arg,ENST00000463280,;PXK,missense_variant,p.His21Arg,ENST00000495557,;PXK,missense_variant,p.His432Arg,ENST00000302779,;PXK,missense_variant,p.His432Arg,ENST00000479241,;PXK,missense_variant,p.His449Arg,ENST00000356151,;PXK,missense_variant,p.His416Arg,ENST00000383716,;PXK,missense_variant,p.His204Arg,ENST00000479134,;PXK,missense_variant,p.His142Arg,ENST00000459676,;PXK,missense_variant,p.His432Arg,ENST00000383715,;PXK,upstream_gene_variant,,ENST00000493474,;PXK,3_prime_UTR_variant,,ENST00000468776,;PXK,3_prime_UTR_variant,,ENST00000477308,;	1455	235	178	SUCCESS
IL17RE	132014	.	GRCh37	3	9953248	9953248	+	synonymous_variant	Silent	SNP	C	C	T	rs150541120	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	82	1	ENST00000383814.3:c.1194C>T	p.Asp398=	p.D398=	ENST00000383814	NM_153480.1	398	gaC/gaT	0	A:0.0032	A:0.0023	.	A:0	.	T	D	protein_coding	YES	CCDS2589.1	1194	MUTECT|MUSE|VARSCANS	.	CAGGACACTTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF5,Pfam_domain:PF15037	A:0	A:0	ENSP00000295980	A:0	13/17	.	.	.	.	.	.	.	.	rs150541120	13/17	PASS	ENST00000295980	Transcript	.	A:0.0006	ENSG00000163701	18439	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	I17RE_HUMAN	IL17RE	HGNC	.	.	UPI000003E87E	SNV	IL17RE,synonymous_variant,p.%3D,ENST00000421412,;IL17RE,synonymous_variant,p.%3D,ENST00000383814,;IL17RE,synonymous_variant,p.%3D,ENST00000295980,;IL17RE,synonymous_variant,p.%3D,ENST00000454190,;IL17RE,downstream_gene_variant,,ENST00000454992,;IL17RE,3_prime_UTR_variant,,ENST00000434065,;IL17RE,3_prime_UTR_variant,,ENST00000383815,;IL17RE,non_coding_transcript_exon_variant,,ENST00000480244,;IL17RE,downstream_gene_variant,,ENST00000489181,;IL17RE,downstream_gene_variant,,ENST00000483258,;IL17RE,downstream_gene_variant,,ENST00000444427,;	1311	84	65	SUCCESS
FHDC1	85462	.	GRCh37	4	153896514	153896514	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	65	0	ENST00000260008.3:c.2071G>T	p.Glu691Ter	p.E691*	ENST00000260008	NM_033393.2	691	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34081.1	2071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGGAGGAG	NONE	.	.	hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213	.	.	ENSP00000427567	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000511601	Transcript	.	.	ENSG00000137460	29363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHDC1_HUMAN	FHDC1	HGNC	.	.	UPI00001D7673	SNV	FHDC1,stop_gained,p.Glu691Ter,ENST00000511601,;FHDC1,stop_gained,p.Glu691Ter,ENST00000260008,;	2259	65	27	SUCCESS
FGFR3	2261	.	GRCh37	4	1807577	1807577	+	synonymous_variant	Silent	SNP	C	C	T	rs1577290558	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	69	0	ENST00000260795.2:c.1746C>T	p.Cys582=	p.C582=	ENST00000260795		582	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS54706.1	1752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCAAGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF128,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF56112	.	.	ENSP00000339824	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000340107	Transcript	1	.	ENSG00000068078	3690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGFR3_HUMAN	FGFR3	HGNC	Q8NI16_HUMAN	.	UPI000002A9AC	SNV	FGFR3,synonymous_variant,p.%3D,ENST00000352904,;FGFR3,synonymous_variant,p.%3D,ENST00000412135,;FGFR3,synonymous_variant,p.%3D,ENST00000440486,;FGFR3,synonymous_variant,p.%3D,ENST00000481110,;FGFR3,synonymous_variant,p.%3D,ENST00000260795,;FGFR3,synonymous_variant,p.%3D,ENST00000340107,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,non_coding_transcript_exon_variant,,ENST00000469068,;	2008	69	49	SUCCESS
SH3BP2	6452	.	GRCh37	4	2829348	2829348	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	116	0	ENST00000356331.5:c.533A>G	p.Asp178Gly	p.D178G	ENST00000356331	NM_003023.4	178	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54716.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACGATGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15126:SF4,hmmpanther:PTHR15126	.	.	ENSP00000422168	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000503393	Transcript	1	.	ENSG00000087266	10825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.02)	.	.	SH3BP2	HGNC	D6RER9_HUMAN,D6RC64_HUMAN,D6RBL6_HUMAN,D6RAB4_HUMAN,D6R995_HUMAN,D6R919_HUMAN	.	UPI00019638E3	SNV	SH3BP2,missense_variant,p.Asp235Gly,ENST00000503393,;SH3BP2,missense_variant,p.Asp206Gly,ENST00000442312,;SH3BP2,missense_variant,p.Asp178Gly,ENST00000356331,;SH3BP2,missense_variant,p.Asp178Gly,ENST00000511747,;SH3BP2,missense_variant,p.Asp178Gly,ENST00000512014,;SH3BP2,missense_variant,p.Asp178Gly,ENST00000435136,;SH3BP2,missense_variant,p.Asp178Gly,ENST00000508385,;SH3BP2,missense_variant,p.Asp178Gly,ENST00000452765,;SH3BP2,downstream_gene_variant,,ENST00000513095,;SH3BP2,downstream_gene_variant,,ENST00000503219,;SH3BP2,downstream_gene_variant,,ENST00000504294,;SH3BP2,downstream_gene_variant,,ENST00000502260,;SH3BP2,downstream_gene_variant,,ENST00000389838,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000515183,;SH3BP2,3_prime_UTR_variant,,ENST00000515737,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000504450,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000505941,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000510204,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000515802,;SH3BP2,downstream_gene_variant,,ENST00000513020,;SH3BP2,upstream_gene_variant,,ENST00000513069,;SH3BP2,downstream_gene_variant,,ENST00000511185,;SH3BP2,downstream_gene_variant,,ENST00000506932,;SH3BP2,downstream_gene_variant,,ENST00000511237,;SH3BP2,downstream_gene_variant,,ENST00000510074,;SH3BP2,downstream_gene_variant,,ENST00000509677,;SH3BP2,downstream_gene_variant,,ENST00000512131,;SH3BP2,downstream_gene_variant,,ENST00000511663,;	743	116	59	SUCCESS
GRXCR1	389207	.	GRCh37	4	42895456	42895456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	55	126	1	ENST00000399770.2:c.173C>A	p.Ser58Tyr	p.S58Y	ENST00000399770	NM_001080476.2	58	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS43225.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTCCGATG	NONE	.	.	hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(1)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Ser58Tyr,ENST00000399770,;RN7SKP82,downstream_gene_variant,,ENST00000516786,;	173	127	86	SUCCESS
NFXL1	152518	.	GRCh37	4	47900847	47900847	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	59	215	2	ENST00000329043.3:c.1016G>C	p.Ser339Thr	p.S339T	ENST00000329043		339	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS3478.2	1016	RADIA|VARSCANS	.	GTCTACTAACT	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1	.	.	ENSP00000422037	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,missense_variant,p.Ser339Thr,ENST00000381538,;NFXL1,missense_variant,p.Ser339Thr,ENST00000507489,;NFXL1,missense_variant,p.Ser339Thr,ENST00000329043,;NFXL1,missense_variant,p.Ser339Thr,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;	1193	218	117	SUCCESS
ART3	419	.	GRCh37	4	77025763	77025763	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	31	91	0	ENST00000355810.4:c.984A>G	p.Pro328=	p.P328=	ENST00000355810	NM_001130016.2	328	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS47079.1	984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGAACC	NONE	.	.	hmmpanther:PTHR10339:SF4,hmmpanther:PTHR10339	.	.	ENSP00000348064	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000355810	Transcript	.	.	ENSG00000156219	725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAR3_HUMAN	ART3	HGNC	Q5J1Q0_HUMAN,Q5J1P8_HUMAN,Q5J1K8_HUMAN,Q5J1K7_HUMAN,E9PGR5_HUMAN,E7EX61_HUMAN,E7ESB3_HUMAN,E7ER42_HUMAN	.	UPI000012FD7B	SNV	ART3,synonymous_variant,p.%3D,ENST00000355810,;ART3,synonymous_variant,p.%3D,ENST00000511188,;ART3,intron_variant,,ENST00000349321,;ART3,intron_variant,,ENST00000341029,;ART3,non_coding_transcript_exon_variant,,ENST00000506313,;ART3,intron_variant,,ENST00000395688,;ART3,intron_variant,,ENST00000510669,;ART3,intron_variant,,ENST00000506667,;ART3,intron_variant,,ENST00000504112,;ART3,upstream_gene_variant,,ENST00000510863,;	1103	92	42	SUCCESS
PCDHB8	56128	.	GRCh37	5	140557467	140557467	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	153	0	ENST00000239444.2:c.-149G>C		p.*50*	ENST00000239444	NM_019120.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4250.1	.	MUTECT|MUSE	.	GCTTGGATGCC	NONE	.	.	.	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,5_prime_UTR_variant,,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	97	153	79	SUCCESS
CYFIP2	26999	.	GRCh37	5	156712348	156712348	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs1011416477	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	38	0	ENST00000521420.1:c.-23-1G>T		p.X8_splice	ENST00000521420		8		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGTGCAG	NONE	.	.	.	.	.	ENSP00000430904	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	HIGH	1/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,splice_acceptor_variant,,ENST00000442283,;CYFIP2,splice_acceptor_variant,,ENST00000521420,;CYFIP2,splice_acceptor_variant,,ENST00000377576,;CYFIP2,splice_acceptor_variant,,ENST00000318218,;CYFIP2,splice_acceptor_variant,,ENST00000347377,;CYFIP2,splice_acceptor_variant,,ENST00000522463,;CYFIP2,upstream_gene_variant,,ENST00000541131,;CYFIP2,splice_acceptor_variant,,ENST00000517850,;CYFIP2,splice_acceptor_variant,,ENST00000523969,;CYFIP2,splice_acceptor_variant,,ENST00000519002,;CYFIP2,splice_acceptor_variant,,ENST00000522423,;CYFIP2,splice_acceptor_variant,,ENST00000519153,;CYFIP2,splice_acceptor_variant,,ENST00000523119,;CYFIP2,splice_acceptor_variant,,ENST00000522637,;CYFIP2,splice_acceptor_variant,,ENST00000519252,;CYFIP2,splice_acceptor_variant,,ENST00000520759,;CYFIP2,splice_acceptor_variant,,ENST00000520419,;CYFIP2,5_prime_UTR_variant,,ENST00000517753,;	.	38	34	SUCCESS
CCNJL	79616	.	GRCh37	5	159686508	159686508	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	45	0	ENST00000393977.3:c.695A>C	p.Tyr232Ser	p.Y232S	ENST00000393977	NM_024565.5	232	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS4350.2	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATACTCC	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF63,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000377547	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000393977	Transcript	.	.	ENSG00000135083	25876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CCNJL_HUMAN	CCNJL	HGNC	.	.	UPI000020C075	SNV	CCNJL,missense_variant,p.Tyr184Ser,ENST00000257536,;CCNJL,missense_variant,p.Tyr232Ser,ENST00000393977,;CCNJL,missense_variant,p.Tyr184Ser,ENST00000519673,;CCNJL,missense_variant,p.Tyr183Ser,ENST00000541762,;CCNJL,downstream_gene_variant,,ENST00000520748,;CCNJL,non_coding_transcript_exon_variant,,ENST00000377503,;RP11-34P1.2,downstream_gene_variant,,ENST00000522428,;	981	45	30	SUCCESS
ANKRD55	79722	.	GRCh37	5	55407540	55407540	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	84	2	ENST00000341048.4:c.1035G>C	p.Val345=	p.V345=	ENST00000341048	NM_024669.2	345	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS34161.1	1035	SOMATICSNIPER|VARSCANS	.	TTGAGCACGTT	NONE	.	.	hmmpanther:PTHR24158:SF21,hmmpanther:PTHR24158	.	.	ENSP00000342295	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000341048	Transcript	1	.	ENSG00000164512	25681	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANR55_HUMAN	ANKRD55	HGNC	.	.	UPI00004572EF	SNV	ANKRD55,synonymous_variant,p.%3D,ENST00000434982,;ANKRD55,synonymous_variant,p.%3D,ENST00000341048,;ANKRD55,synonymous_variant,p.%3D,ENST00000504958,;ANKRD55,non_coding_transcript_exon_variant,,ENST00000505970,;	1187	86	55	SUCCESS
PIK3R1	5295	.	GRCh37	5	67569772	67569772	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	77	1	ENST00000274335.5:c.433G>C	p.Glu145Gln	p.E145Q	ENST00000274335		145	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS3993.1	433	RADIA|MUTECT|VARSCANS	.	GTCTGGAATGT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR10155:SF3,hmmpanther:PTHR10155,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000428056	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000521381	Transcript	1	.	ENSG00000145675	8979	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.267)	.	deleterious(0.01)	.	P85A_HUMAN	PIK3R1	HGNC	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN	.	UPI000013D9FF	SNV	PIK3R1,missense_variant,p.Glu145Gln,ENST00000274335,;PIK3R1,missense_variant,p.Glu145Gln,ENST00000521381,;PIK3R1,missense_variant,p.Glu47Gln,ENST00000520675,;PIK3R1,missense_variant,p.Glu145Gln,ENST00000396611,;PIK3R1,missense_variant,p.Glu145Gln,ENST00000521657,;PIK3R1,downstream_gene_variant,,ENST00000517412,;	1049	78	38	SUCCESS
GPR98	0	.	GRCh37	5	89925241	89925241	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	49	162	2	ENST00000405460.2:c.1724T>A	p.Leu575Ter	p.L575*	ENST00000405460	NM_032119.3	575	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS47246.1	1724	RADIA|VARSCANS	.	CATCTTAAATA	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	9/90	.	.	.	.	.	.	.	.	.	9/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,stop_gained,p.Leu575Ter,ENST00000405460,;GPR98,stop_gained,p.Leu164Ter,ENST00000504142,;	1820	164	99	SUCCESS
GCLC	2729	.	GRCh37	6	53373505	53373505	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	67	2	ENST00000229416.6:c.833C>G	p.Ala278Gly	p.A278G	ENST00000229416	NM_001197115.1	278	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS4952.1	833	SOMATICSNIPER|VARSCANS	.	TCAAAGCCATC	NONE	.	.	hmmpanther:PTHR11164,hmmpanther:PTHR11164:SF0,Pfam_domain:PF03074,Superfamily_domains:SSF55931	.	.	ENSP00000229416	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000229416	Transcript	.	.	ENSG00000001084	4311	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GSH1_HUMAN	GCLC	HGNC	Q14TF0_HUMAN,D6R959_HUMAN,B4E2I4_HUMAN	.	UPI000000D970	SNV	GCLC,missense_variant,p.Ala278Gly,ENST00000229416,;GCLC,upstream_gene_variant,,ENST00000514373,;GCLC,downstream_gene_variant,,ENST00000514004,;RP1-27K12.4,downstream_gene_variant,,ENST00000508884,;GCLC,3_prime_UTR_variant,,ENST00000504525,;GCLC,non_coding_transcript_exon_variant,,ENST00000509541,;GCLC,upstream_gene_variant,,ENST00000510837,;GCLC,upstream_gene_variant,,ENST00000504353,;	1317	69	66	SUCCESS
EYS	346007	.	GRCh37	6	65612320	65612320	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	24	191	0	ENST00000370616.2:c.2715T>C	p.Cys905=	p.C905=	ENST00000370616		905	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS47445.1	2715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCACAGTC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	17/43	.	.	.	.	.	.	.	.	.	17/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,synonymous_variant,p.%3D,ENST00000370616,;EYS,synonymous_variant,p.%3D,ENST00000370621,;EYS,synonymous_variant,p.%3D,ENST00000503581,;	3253	191	113	SUCCESS
BAI3	0	.	GRCh37	6	69349266	69349266	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146475807	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	16	56	1	ENST00000370598.1:c.699G>T	p.Glu233Asp	p.E233D	ENST00000370598	NM_001704.2	233	gaG/gaT	0	A:0	.	.	.	.	T	E/D	protein_coding	YES	CCDS4968.1	699	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGAGCTGCA	NONE	byCluster	.	.	.	A:0.0002	ENSP00000359630	.	3/32	.	.	.	.	.	.	.	.	rs146475807	3/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.027)	.	tolerated(0.66)	.	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,missense_variant,p.Glu233Asp,ENST00000370598,;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;	1520	57	24	SUCCESS
MDN1	23195	.	GRCh37	6	90529349	90529349	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	9	0	ENST00000369393.3:c.-23G>C		p.*8*	ENST00000369393				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5024.1	.	MUTECT|MUSE	.	CCGAGCGGCCA	NONE	.	.	.	.	.	ENSP00000358400	.	1/102	.	.	.	.	.	.	.	.	.	1/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,5_prime_UTR_variant,,ENST00000369393,;MDN1,5_prime_UTR_variant,,ENST00000428876,;MDN1,5_prime_UTR_variant,,ENST00000439638,;snoU13,upstream_gene_variant,,ENST00000458799,;RP11-63K6.1,downstream_gene_variant,,ENST00000405081,;	94	9	13	SUCCESS
MDN1	23195	.	GRCh37	6	90529350	90529350	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	9	0	ENST00000369393.3:c.-24C>T		p.*8*	ENST00000369393				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5024.1	.	MUTECT|MUSE	.	CGAGCGGCCAC	NONE	.	.	.	.	.	ENSP00000358400	.	1/102	.	.	.	.	.	.	.	.	.	1/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,5_prime_UTR_variant,,ENST00000369393,;MDN1,5_prime_UTR_variant,,ENST00000428876,;MDN1,5_prime_UTR_variant,,ENST00000439638,;snoU13,upstream_gene_variant,,ENST00000458799,;RP11-63K6.1,downstream_gene_variant,,ENST00000405081,;	93	9	13	SUCCESS
PIK3CG	5294	.	GRCh37	7	106508945	106508945	+	synonymous_variant	Silent	SNP	G	G	T	rs770645763	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	60	2	ENST00000359195.3:c.939G>T	p.Pro313=	p.P313=	ENST00000359195	NM_002649.2	313	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5739.1	939	SOMATICSNIPER|VARSCANS	.	GACCCGGCCCT	NONE	byFrequency	.	hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	.	.	ENSP00000352121	.	2/11	.	.	.	.	.	.	.	.	rs770645763	2/11	PASS	ENST00000359195	Transcript	.	.	ENSG00000105851	8978	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PK3CG_HUMAN	PIK3CG	HGNC	Q24M88_HUMAN,E9PDN7_HUMAN	.	UPI00000746B8	SNV	PIK3CG,synonymous_variant,p.%3D,ENST00000496166,;PIK3CG,synonymous_variant,p.%3D,ENST00000359195,;PIK3CG,synonymous_variant,p.%3D,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	1249	62	23	SUCCESS
VWDE	221806	.	GRCh37	7	12409323	12409323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	157	1	ENST00000275358.3:c.2609G>T	p.Gly870Val	p.G870V	ENST00000275358	NM_001135924.1	870	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS47544.1	2609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCCCCTCC	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.58)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Gly870Val,ENST00000275358,;VWDE,missense_variant,p.Gly870Val,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	2798	158	105	SUCCESS
WDR91	29062	.	GRCh37	7	134894445	134894445	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	92	1	ENST00000354475.4:c.186G>A	p.Arg62=	p.R62=	ENST00000354475	NM_014149.3	62	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34758.1	186	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCCCGAAG	NONE	.	.	hmmpanther:PTHR13083	.	.	ENSP00000346466	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000354475	Transcript	.	.	ENSG00000105875	24997	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR91_HUMAN	WDR91	HGNC	.	.	UPI000006F2DE	SNV	WDR91,synonymous_variant,p.%3D,ENST00000354475,;WDR91,synonymous_variant,p.%3D,ENST00000344400,;WDR91,synonymous_variant,p.%3D,ENST00000423565,;WDR91,upstream_gene_variant,,ENST00000485942,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;	218	93	49	SUCCESS
MGAM	8972	.	GRCh37	7	141755415	141755415	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	83	1	ENST00000549489.2:c.3372C>T	p.Thr1124=	p.T1124=	ENST00000549489	NM_004668.2	1124	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47727.1	3372	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TCCACCCGCCT	NONE	.	.	Superfamily_domains:SSF74650	.	.	ENSP00000447378	.	28/48	.	.	.	.	.	.	.	.	.	28/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,synonymous_variant,p.%3D,ENST00000475668,;MGAM,synonymous_variant,p.%3D,ENST00000549489,;	3467	84	65	SUCCESS
IQCE	23288	.	GRCh37	7	2625881	2625881	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	57	1	ENST00000402050.2:c.864G>A	p.Lys288=	p.K288=	ENST00000402050	NM_152558.3	288	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS43542.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAGAAGAT	NONE	.	.	hmmpanther:PTHR22590	.	.	ENSP00000385597	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000402050	Transcript	.	.	ENSG00000106012	29171	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQCE_HUMAN	IQCE	HGNC	C9JX25_HUMAN,C9JP75_HUMAN	.	UPI000020E9EF	SNV	IQCE,synonymous_variant,p.%3D,ENST00000404984,;IQCE,synonymous_variant,p.%3D,ENST00000402050,;IQCE,synonymous_variant,p.%3D,ENST00000427817,;IQCE,synonymous_variant,p.%3D,ENST00000438376,;IQCE,synonymous_variant,p.%3D,ENST00000325979,;IQCE,downstream_gene_variant,,ENST00000497572,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;IQCE,upstream_gene_variant,,ENST00000490913,;	1048	58	41	SUCCESS
ZNRF2P2	100271874	.	GRCh37	7	29690891	29690891	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	14	0	ENST00000426767.1:n.431T>C		p.*144*	ENST00000426767				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CAGCCAATTAT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000426767	Transcript	.	.	ENSG00000225264	42793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNRF2P2	HGNC	.	.	.	SNV	ZNRF2P2,non_coding_transcript_exon_variant,,ENST00000426767,;ZNRF2P2,intron_variant,,ENST00000442865,;DPY19L2P3,intron_variant,,ENST00000414296,;	431	14	8	SUCCESS
AEBP1	165	.	GRCh37	7	44151907	44151907	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745623681	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	80	0	ENST00000223357.3:c.2204C>T	p.Ser735Leu	p.S735L	ENST00000223357	NM_001129.4	735	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS5476.1	2204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCGCCAG	NONE	byFrequency	.	hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000223357	.	17/21	.	.	.	.	.	.	.	.	rs745623681	17/21	PASS	ENST00000223357	Transcript	.	.	ENSG00000106624	303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.541)	.	tolerated(0.15)	.	AEBP1_HUMAN	AEBP1	HGNC	B4DJB3_HUMAN	.	UPI00000746E2	SNV	AEBP1,missense_variant,p.Ser735Leu,ENST00000223357,;AEBP1,missense_variant,p.Ser310Leu,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;POLD2,downstream_gene_variant,,ENST00000436400,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000452185,;POLD2,downstream_gene_variant,,ENST00000436844,;MIR4649,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000431035,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000463464,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000470867,;AEBP1,downstream_gene_variant,,ENST00000453052,;POLD2,downstream_gene_variant,,ENST00000489883,;	2509	81	48	SUCCESS
SEPT7P2	0	.	GRCh37	7	45786858	45786858	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	72	0	ENST00000429741.1:n.875G>C		p.*292*	ENST00000429741				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCCATTA	NONE	.	.	.	.	.	.	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000429741	Transcript	.	.	ENSG00000214765	32339	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SEPT7P2	HGNC	.	.	.	SNV	SEPT7P2,non_coding_transcript_exon_variant,,ENST00000338231,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000428414,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000429741,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000413875,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000398921,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000443269,;SEPT7P2,non_coding_transcript_exon_variant,,ENST00000417129,;SEPT7P2,upstream_gene_variant,,ENST00000535085,;	875	72	49	SUCCESS
MTMR7	9108	.	GRCh37	8	17163407	17163407	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	132	0	ENST00000180173.5:c.1211A>C	p.Glu404Ala	p.E404A	ENST00000180173	NM_004686.4	404	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS34851.1	1211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTCAATG	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Pfam_domain:PF06602,SMART_domains:SM00404,Superfamily_domains:SSF52799	.	.	ENSP00000180173	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000180173	Transcript	.	.	ENSG00000003987	7454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MTMR7_HUMAN	MTMR7	HGNC	I0EZ69_HUMAN,B4E1E5_HUMAN,B4E1B6_HUMAN	.	UPI00004DFD27	SNV	MTMR7,missense_variant,p.Glu404Ala,ENST00000521857,;MTMR7,missense_variant,p.Glu404Ala,ENST00000180173,;MTMR7,5_prime_UTR_variant,,ENST00000398099,;MTMR7,non_coding_transcript_exon_variant,,ENST00000519763,;VPS37A,downstream_gene_variant,,ENST00000519515,;MTMR7,non_coding_transcript_exon_variant,,ENST00000519590,;	1246	132	30	SUCCESS
CSMD1	64478	.	GRCh37	8	3165845	3165845	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768962641	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	68	0	ENST00000537824.1:c.3812C>A	p.Pro1271His	p.P1271H	ENST00000537824	NM_033225.5	1271	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS55189.1	3812	MUTECT|MUSE	.	ACGAAGGTAGT	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	24/70	.	.	.	.	.	.	.	.	rs768962641	24/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Pro1272His,ENST00000400186,;CSMD1,missense_variant,p.Pro1271His,ENST00000542608,;CSMD1,missense_variant,p.Pro1272His,ENST00000602723,;CSMD1,missense_variant,p.Pro752His,ENST00000335551,;CSMD1,missense_variant,p.Pro1271His,ENST00000537824,;CSMD1,missense_variant,p.Pro1272His,ENST00000520002,;CSMD1,missense_variant,p.Pro1271His,ENST00000539096,;CSMD1,missense_variant,p.Pro1272His,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	3812	68	19	SUCCESS
ZFHX4	79776	.	GRCh37	8	77775784	77775784	+	synonymous_variant	Silent	SNP	C	C	T	rs371636479	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	47	106	2	ENST00000521891.2:c.9834C>T	p.Leu3278=	p.L3278=	ENST00000521891	NM_024721.4	3278	ctC/ctT	0	G:0.0003	.	.	.	.	T	L	protein_coding	YES	CCDS47878.2	9834	RADIA|VARSCANS	.	CAGCTCCCTGG	NONE	byCluster	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	G:0	ENSP00000430497	.	11/11	.	.	.	.	.	.	.	.	rs371636479	11/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;	10282	108	142	SUCCESS
GRIN3A	116443	.	GRCh37	9	104499796	104499796	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763288825	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	99	0	ENST00000361820.3:c.466G>C	p.Ala156Pro	p.A156P	ENST00000361820	NM_133445.2	156	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS6758.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCCTCGA	NONE	.	.	Superfamily_domains:SSF53822,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	.	.	ENSP00000355155	.	1/9	.	.	.	.	.	.	.	.	rs763288825	1/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.05)	.	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,missense_variant,p.Ala156Pro,ENST00000361820,;	1067	99	50	SUCCESS
TMEM38B	55151	.	GRCh37	9	108536210	108536210	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs780329268	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	150	0	ENST00000374692.3:c.725G>A	p.Trp242Ter	p.W242*	ENST00000374692	NM_018112.2	242	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS6768.1	725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTGGATGC	NONE	.	.	hmmpanther:PTHR12454,hmmpanther:PTHR12454:SF5	.	.	ENSP00000363824	.	6/6	.	.	.	.	.	.	.	.	rs780329268	6/6	PASS	ENST00000374692	Transcript	.	.	ENSG00000095209	25535	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM38B_HUMAN	TMEM38B	HGNC	.	.	UPI0000034FF4	SNV	TMEM38B,stop_gained,p.Trp242Ter,ENST00000374692,;TMEM38B,stop_gained,p.Trp188Ter,ENST00000374688,;TMEM38B,3_prime_UTR_variant,,ENST00000435034,;	842	150	86	SUCCESS
SVEP1	79987	.	GRCh37	9	113312149	113312149	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	159	0	ENST00000374469.1:c.698C>G	p.Ala233Gly	p.A233G	ENST00000374469		233	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS48004.1	767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGCTAAA	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Gene3D:3.40.50.410,PROSITE_profiles:PS50234	.	.	ENSP00000384917	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Ala256Gly,ENST00000401783,;SVEP1,missense_variant,p.Ala233Gly,ENST00000374469,;SVEP1,missense_variant,p.Ala256Gly,ENST00000302728,;SVEP1,missense_variant,p.Ala233Gly,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	1104	159	78	SUCCESS
FAM78A	286336	.	GRCh37	9	134136583	134136583	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	54	0	ENST00000372271.3:c.478G>A	p.Asp160Asn	p.D160N	ENST00000372271	NM_033387.3	160	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6941.2	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCATTCA	NONE	.	.	hmmpanther:PTHR31655:SF3,hmmpanther:PTHR31655	.	.	ENSP00000361345	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372271	Transcript	.	.	ENSG00000126882	25465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	FA78A_HUMAN	FAM78A	HGNC	.	.	UPI000013F430	SNV	FAM78A,missense_variant,p.Asp157Asn,ENST00000372269,;FAM78A,missense_variant,p.Asp129Asn,ENST00000464831,;FAM78A,missense_variant,p.Asp160Asn,ENST00000372271,;FAM78A,non_coding_transcript_exon_variant,,ENST00000247295,;	846	54	28	SUCCESS
TOR4A	54863	.	GRCh37	9	140173601	140173601	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	36	1	ENST00000357503.2:c.460G>A	p.Glu154Lys	p.E154K	ENST00000357503	NM_017723.2	154	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7041.1	460	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGAGAAA	NONE	.	.	hmmpanther:PTHR10760:SF1,hmmpanther:PTHR10760,Gene3D:3.40.50.300,Pfam_domain:PF06309,Superfamily_domains:SSF52540	.	.	ENSP00000350102	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357503	Transcript	.	.	ENSG00000198113	25981	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	TOR4A_HUMAN	TOR4A	HGNC	.	.	UPI00004577EC	SNV	TOR4A,missense_variant,p.Glu154Lys,ENST00000357503,;	656	38	30	SUCCESS
PLAA	9373	.	GRCh37	9	26905887	26905887	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	185	0	ENST00000397292.3:c.2010G>C	p.Gln670His	p.Q670H	ENST00000397292	NM_001031689.2	670	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS35000.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCTGGCC	NONE	.	.	PROSITE_profiles:PS51396,hmmpanther:PTHR19849:SF0,hmmpanther:PTHR19849,Pfam_domain:PF08324,Superfamily_domains:SSF48371	.	.	ENSP00000380460	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000397292	Transcript	.	.	ENSG00000137055	9043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.12)	.	PLAP_HUMAN	PLAA	HGNC	.	.	UPI00000372D6	SNV	PLAA,missense_variant,p.Gln288His,ENST00000517642,;PLAA,missense_variant,p.Gln670His,ENST00000397292,;PLAA,downstream_gene_variant,,ENST00000487173,;PLAA,downstream_gene_variant,,ENST00000520884,;	2428	185	90	SUCCESS
TEK	7010	.	GRCh37	9	27212818	27212818	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	48	1	ENST00000380036.4:c.2800T>C	p.Ser934Pro	p.S934P	ENST00000380036	NM_000459.3	934	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6519.1	2800	MUTECT|RADIA|SOMATICSNIPER	.	CCGCGTCCACA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000369375	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Ser891Pro,ENST00000406359,;TEK,missense_variant,p.Ser786Pro,ENST00000519097,;TEK,missense_variant,p.Ser934Pro,ENST00000380036,;RP11-179D22.1,downstream_gene_variant,,ENST00000422804,;	3242	49	20	SUCCESS
RFX3	5991	.	GRCh37	9	3247979	3247979	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	63	0	ENST00000382004.3:c.1968+53A>T		p.*656*	ENST00000382004	NM_134428.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6449.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATTCTGGC	NONE	.	.	.	.	.	ENSP00000371434	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382004	Transcript	.	.	ENSG00000080298	9984	.	.	MODIFIER	16/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFX3_HUMAN	RFX3	HGNC	F6XM74_HUMAN,F6USP3_HUMAN	.	UPI0000070BFB	SNV	RFX3,missense_variant,p.Glu674Val,ENST00000302303,;RFX3,missense_variant,p.Glu674Val,ENST00000358730,;RFX3,intron_variant,,ENST00000382004,;RFX3,intron_variant,,ENST00000449234,;	.	63	31	SUCCESS
GLRA4	441509	.	GRCh37	X	102978843	102978843	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	66	257	1	ENST00000372617.4:c.518T>G	p.Leu173Arg	p.L173R	ENST00000372617	NM_001024452.2	173	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS43980.2	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCAGGCAG	NONE	.	.	hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,PROSITE_patterns:PS00236,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000361700	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000372617	Transcript	.	.	ENSG00000188828	31715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.03)	.	GLRA4_HUMAN	GLRA4	HGNC	.	.	UPI000188140C	SNV	GLRA4,missense_variant,p.Leu173Arg,ENST00000372617,;GLRA4,upstream_gene_variant,,ENST00000469567,;GLRA4,3_prime_UTR_variant,,ENST00000436213,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;	939	258	96	SUCCESS
RAB9B	51209	.	GRCh37	X	103080318	103080318	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	15	85	0	ENST00000243298.2:c.397G>A	p.Val133Met	p.V133M	ENST00000243298	NM_016370.2	133	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14515.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCACTTGCC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF329,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540	.	.	ENSP00000243298	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000243298	Transcript	.	.	ENSG00000123570	14090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	RAB9B_HUMAN	RAB9B	HGNC	.	.	UPI0000133185	SNV	RAB9B,missense_variant,p.Val133Met,ENST00000243298,;	682	85	22	SUCCESS
IL9R	3581	.	GRCh37	X	155233210	155233210	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	35	144	1	ENST00000244174.5:c.239G>T	p.Trp80Leu	p.W80L	ENST00000244174	NM_002186.2	80	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS14771.4	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTGGCTCC	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	deleterious(0.01)	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,missense_variant,p.Trp127Leu,ENST00000369423,;IL9R,missense_variant,p.Trp80Leu,ENST00000244174,;IL9R,missense_variant,p.Trp117Leu,ENST00000540897,;IL9R,missense_variant,p.Trp59Leu,ENST00000424344,;IL9R,downstream_gene_variant,,ENST00000489233,;IL9R,upstream_gene_variant,,ENST00000494962,;AJ271736.10,upstream_gene_variant,,ENST00000483543,;	418	145	72	SUCCESS
PORCN	64840	.	GRCh37	X	48375573	48375573	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1556975558	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	47	1	ENST00000326194.6:c.1176C>T		p.X392_splice	ENST00000326194	NM_203475.1	392	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14299.1	1176	MUTECT|MUSE	.	CAGGGCCTGGG	NONE	.	.	hmmpanther:PTHR13906:SF10,hmmpanther:PTHR13906,Pfam_domain:PF03062	.	.	ENSP00000322304	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000326194	Transcript	.	.	ENSG00000102312	17652	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PORCN_HUMAN	PORCN	HGNC	C9JWI5_HUMAN	.	UPI000014187F	SNV	PORCN,synonymous_variant,p.%3D,ENST00000359882,;PORCN,synonymous_variant,p.%3D,ENST00000361988,;PORCN,synonymous_variant,p.%3D,ENST00000355961,;PORCN,synonymous_variant,p.%3D,ENST00000355092,;PORCN,synonymous_variant,p.%3D,ENST00000367574,;PORCN,synonymous_variant,p.%3D,ENST00000537758,;PORCN,synonymous_variant,p.%3D,ENST00000326194,;EBP,upstream_gene_variant,,ENST00000446158,;EBP,upstream_gene_variant,,ENST00000495186,;EBP,upstream_gene_variant,,ENST00000414061,;EBP,upstream_gene_variant,,ENST00000276096,;EBP,upstream_gene_variant,,ENST00000498425,;PORCN,splice_region_variant,,ENST00000485288,;PORCN,splice_region_variant,,ENST00000472520,;PORCN,splice_region_variant,,ENST00000491243,;PORCN,downstream_gene_variant,,ENST00000470275,;PORCN,downstream_gene_variant,,ENST00000459953,;PORCN,downstream_gene_variant,,ENST00000528612,;	1219	48	10	SUCCESS
SHROOM4	57477	.	GRCh37	X	50350826	50350826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	83	0	ENST00000289292.7:c.3316C>A	p.Pro1106Thr	p.P1106T	ENST00000289292		1106	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS35277.1	3316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012	.	.	ENSP00000365188	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,missense_variant,p.Pro1106Thr,ENST00000376020,;SHROOM4,missense_variant,p.Pro1106Thr,ENST00000289292,;SHROOM4,missense_variant,p.Pro990Thr,ENST00000460112,;	3342	83	28	SUCCESS
PABPC5	140886	.	GRCh37	X	90690699	90690699	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	48	0	ENST00000312600.3:c.123T>A	p.Ala41=	p.A41=	ENST00000312600	NM_080832.2	41	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14460.1	123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGGCCC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF241,hmmpanther:PTHR24011,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,synonymous_variant,p.%3D,ENST00000312600,;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	337	48	15	SUCCESS
C10orf90	118611	.	GRCh37	10	128192733	128192733	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	58	106	0	ENST00000284694.7:c.1036G>A	p.Glu346Lys	p.E346K	ENST00000284694	NM_001004298.2	346	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31310.1	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTCCTTCA	NONE	.	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553	.	.	ENSP00000284694	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.26)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Glu299Lys,ENST00000356858,;C10orf90,missense_variant,p.Glu299Lys,ENST00000392694,;C10orf90,missense_variant,p.Glu346Lys,ENST00000432642,;C10orf90,missense_variant,p.Glu346Lys,ENST00000284694,;C10orf90,missense_variant,p.Glu346Lys,ENST00000454341,;C10orf90,missense_variant,p.Glu443Lys,ENST00000544758,;C10orf90,downstream_gene_variant,,ENST00000488181,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,downstream_gene_variant,,ENST00000463082,;	1157	107	81	SUCCESS
PRPF18	8559	.	GRCh37	10	13629119	13629119	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	54	77	1	ENST00000378572.3:c.33G>T	p.Lys11Asn	p.K11N	ENST00000378572	NM_003675.3	11	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7100.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAAGCGGCA	NONE	.	.	hmmpanther:PTHR13007:SF19,hmmpanther:PTHR13007	.	.	ENSP00000367835	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000378572	Transcript	.	.	ENSG00000165630	17351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	PRP18_HUMAN	PRPF18	HGNC	M0QXX3_HUMAN	.	UPI0000070C82	SNV	PRPF18,missense_variant,p.Lys11Asn,ENST00000378572,;PRPF18,5_prime_UTR_variant,,ENST00000417658,;PRPF18,5_prime_UTR_variant,,ENST00000320054,;RP11-295P9.2,downstream_gene_variant,,ENST00000445338,;	193	78	123	SUCCESS
PCDH15	65217	.	GRCh37	10	55849778	55849778	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	79	0	ENST00000320301.6:c.1963G>T	p.Gly655Ter	p.G655*	ENST00000320301	NM_033056.3	655	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS44404.1	1963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCATTCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,stop_gained,p.Gly633Ter,ENST00000395433,;PCDH15,stop_gained,p.Gly662Ter,ENST00000395445,;PCDH15,stop_gained,p.Gly655Ter,ENST00000320301,;PCDH15,stop_gained,p.Gly266Ter,ENST00000409834,;PCDH15,stop_gained,p.Gly618Ter,ENST00000395432,;PCDH15,stop_gained,p.Gly655Ter,ENST00000373955,;PCDH15,stop_gained,p.Gly633Ter,ENST00000373957,;PCDH15,stop_gained,p.Gly655Ter,ENST00000361849,;PCDH15,stop_gained,p.Gly655Ter,ENST00000395438,;PCDH15,stop_gained,p.Gly655Ter,ENST00000395446,;PCDH15,stop_gained,p.Gly660Ter,ENST00000414778,;PCDH15,stop_gained,p.Gly662Ter,ENST00000373965,;PCDH15,stop_gained,p.Gly655Ter,ENST00000395430,;PCDH15,intron_variant,,ENST00000437009,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000448885,;PCDH15,intron_variant,,ENST00000414367,;	2358	79	97	SUCCESS
KIAA1377	0	.	GRCh37	11	101833550	101833550	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs750654293	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	55	113	0	ENST00000263468.8:c.1784del	p.Ile595LysfsTer21	p.I595Kfs*21	ENST00000263468	NM_020802.2	595	aTa/aa	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS31658.1	1784	INDELOCATOR*|VARSCANI*|PINDEL	.	TAATTATAAATC	NONE	byFrequency	.	Pfam_domain:PF15352,hmmpanther:PTHR31191	.	.	ENSP00000263468	.	6/11	.	.	.	.	.	.	.	.	rs750654293	6/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	deletion	KIAA1377,frameshift_variant,p.Ile396LysfsTer21,ENST00000537689,;KIAA1377,frameshift_variant,p.Ile595LysfsTer21,ENST00000263468,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	2054	113	207	SUCCESS
KIAA1377	0	.	GRCh37	11	101849150	101849150	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1291771648	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	7	165	0	ENST00000263468.8:c.2918A>G	p.Asn973Ser	p.N973S	ENST00000263468	NM_020802.2	973	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31658.1	2918	MUTECT|MUSE	.	ACAAAACCCTG	NONE	.	.	Pfam_domain:PF15352,hmmpanther:PTHR31191	.	.	ENSP00000263468	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.487)	.	tolerated(0.5)	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,missense_variant,p.Asn774Ser,ENST00000537689,;KIAA1377,missense_variant,p.Asn973Ser,ENST00000263468,;KIAA1377,missense_variant,p.Asn7Ser,ENST00000532077,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	3188	165	147	SUCCESS
TECTA	7007	.	GRCh37	11	121037416	121037416	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	55	0	ENST00000264037.2:c.5513C>A	p.Thr1838Asn	p.T1838N	ENST00000264037	NM_005422.2	1838	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS8434.1	5513	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACCGGCA	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR11339,PROSITE_profiles:PS51034	.	.	ENSP00000376543	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.49)	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Thr1838Asn,ENST00000264037,;TECTA,missense_variant,p.Thr1838Asn,ENST00000392793,;	5784	55	96	SUCCESS
VSIG2	23584	.	GRCh37	11	124618542	124618542	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs560008973	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	66	0	ENST00000326621.5:c.704C>G	p.Thr235Ser	p.T235S	ENST00000326621	NM_014312.3	235	aCc/aGc	0	.	A:0	.	A:0	.	C	T/S	protein_coding	YES	CCDS8452.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCGGTCACA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR12231:SF78,hmmpanther:PTHR12231,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0.003	.	ENSP00000318684	A:0	5/7	.	.	.	.	.	.	.	.	rs560008973	5/7	PASS	ENST00000326621	Transcript	.	A:0.0006	ENSG00000019102	17149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	A:0	tolerated(0.64)	.	VSIG2_HUMAN	VSIG2	HGNC	.	.	UPI0000035BBB	SNV	VSIG2,missense_variant,p.Thr235Ser,ENST00000403470,;VSIG2,missense_variant,p.Thr235Ser,ENST00000326621,;NRGN,downstream_gene_variant,,ENST00000284292,;ESAM,downstream_gene_variant,,ENST00000444566,;NRGN,downstream_gene_variant,,ENST00000412681,;ESAM,downstream_gene_variant,,ENST00000442070,;ESAM,downstream_gene_variant,,ENST00000278927,;RP11-677M14.2,upstream_gene_variant,,ENST00000531241,;ESAM,downstream_gene_variant,,ENST00000485116,;ESAM,downstream_gene_variant,,ENST00000464067,;ESAM,downstream_gene_variant,,ENST00000417453,;	805	66	88	SUCCESS
SLC6A5	9152	.	GRCh37	11	20660007	20660007	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	30	0	ENST00000525748.1:c.1872T>C		p.X624_splice	ENST00000525748	NM_004211.3	624	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS7854.1	1872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGTGGAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF107,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000434364	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000525748	Transcript	.	.	ENSG00000165970	11051	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A5_HUMAN	SLC6A5	HGNC	.	.	UPI00004564A5	SNV	SLC6A5,synonymous_variant,p.%3D,ENST00000525748,;SLC6A5,splice_region_variant,,ENST00000528440,;SLC6A5,splice_region_variant,,ENST00000298923,;	2145	30	65	SUCCESS
MS4A12	54860	.	GRCh37	11	60274541	60274541	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776926656	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	63	2	ENST00000016913.4:c.748G>C	p.Ala250Pro	p.A250P	ENST00000016913	NM_017716.2	250	Gcg/Ccg	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS7988.1	748	SOMATICSNIPER|VARSCANS	.	CACCAGCGTCT	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF34	.	.	ENSP00000016913	.	7/7	.	.	.	.	.	.	.	.	rs776926656	7/7	PASS	ENST00000016913	Transcript	.	.	ENSG00000071203	13370	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.341)	.	tolerated(0.23)	.	M4A12_HUMAN	MS4A12	HGNC	E9PNI3_HUMAN	.	UPI000006D9F8	SNV	MS4A12,missense_variant,p.Ala204Pro,ENST00000537076,;MS4A12,missense_variant,p.Ala250Pro,ENST00000016913,;MS4A12,downstream_gene_variant,,ENST00000526784,;	805	65	104	SUCCESS
PPFIA1	8500	.	GRCh37	11	70194365	70194365	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	90	0	ENST00000253925.7:c.2002A>C	p.Ser668Arg	p.S668R	ENST00000253925	NM_003626.3	668	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS31627.1	2002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAAGTCTA	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15	.	.	ENSP00000253925	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000253925	Transcript	.	.	ENSG00000131626	9245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.481)	.	deleterious(0.01)	.	LIPA1_HUMAN	PPFIA1	HGNC	E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN	.	UPI0000072426	SNV	PPFIA1,missense_variant,p.Ser668Arg,ENST00000253925,;PPFIA1,missense_variant,p.Ser72Arg,ENST00000528750,;PPFIA1,missense_variant,p.Ser668Arg,ENST00000389547,;PPFIA1,intron_variant,,ENST00000530798,;AP000487.6,intron_variant,,ENST00000528607,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000526074,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000528284,;PPFIA1,3_prime_UTR_variant,,ENST00000530294,;PPFIA1,3_prime_UTR_variant,,ENST00000533894,;PPFIA1,3_prime_UTR_variant,,ENST00000532504,;PPFIA1,3_prime_UTR_variant,,ENST00000526347,;PPFIA1,3_prime_UTR_variant,,ENST00000526369,;PPFIA1,3_prime_UTR_variant,,ENST00000526262,;PPFIA1,upstream_gene_variant,,ENST00000530390,;	2217	90	98	SUCCESS
FAM222A	84915	.	GRCh37	12	110205993	110205993	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	74	1	ENST00000358906.3:c.259C>A	p.Gln87Lys	p.Q87K	ENST00000358906		87	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS9133.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCAGCGC	NONE	.	.	Pfam_domain:PF15258,hmmpanther:PTHR16070	.	.	ENSP00000443292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000538780	Transcript	.	.	ENSG00000139438	25915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0)	.	F222A_HUMAN	FAM222A	HGNC	.	.	UPI000013D712	SNV	FAM222A,missense_variant,p.Gln87Lys,ENST00000538780,;FAM222A,missense_variant,p.Gln87Lys,ENST00000358906,;FAM222A-AS1,intron_variant,,ENST00000541460,;FAM222A-AS1,intron_variant,,ENST00000541723,;	975	75	146	SUCCESS
SETD1B	23067	.	GRCh37	12	122261155	122261155	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	80	0	ENST00000604567.1:c.4670A>T	p.Gln1557Leu	p.Q1557L	ENST00000604567		1557	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS53838.1	4541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGACCC	NONE	.	.	hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	.	.	ENSP00000267197	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000267197	Transcript	.	.	ENSG00000139718	29187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,missense_variant,p.Gln1557Leu,ENST00000604567,;SETD1B,missense_variant,p.Gln1514Leu,ENST00000542440,;SETD1B,missense_variant,p.Gln1514Leu,ENST00000267197,;	4547	80	84	SUCCESS
IGHV4-4	28401	.	GRCh37	14	106478139	106478139	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	37	0	ENST00000390596.2:c.319G>A	p.Ala107Thr	p.A107T	ENST00000390596		107	Gcg/Acg	0	.	.	.	.	.	T	A/T	IG_V_gene	YES	.	319	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGCGGCGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375005	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390596	Transcript	.	.	ENSG00000211936	5652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.105)	.	tolerated_low_confidence(0.06)	.	.	IGHV4-4	HGNC	.	.	UPI0000115FF0	SNV	IGHV4-4,missense_variant,p.Ala107Thr,ENST00000390596,;	383	37	51	SUCCESS
MYH6	4624	.	GRCh37	14	23869918	23869918	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs139886074	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	81	0	ENST00000356287.3:c.1410C>T		p.X470_splice	ENST00000356287		470	gaC/gaT	0	A:0	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS9600.1	1410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_benign	CTCACGTCGAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	A:0	A:0.0002	ENSP00000386041	A:0.001	13/39	.	.	.	.	.	.	.	.	rs139886074	13/39	PASS	ENST00000405093	Transcript	.	A:0.0002	ENSG00000197616	7576	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	A:0	.	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,synonymous_variant,p.%3D,ENST00000405093,;MYH6,synonymous_variant,p.%3D,ENST00000356287,;MYH6,splice_region_variant,,ENST00000557461,;	1481	81	95	SUCCESS
NID2	22795	.	GRCh37	14	52481919	52481919	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780404034	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	59	99	0	ENST00000216286.5:c.3103C>T	p.Arg1035Trp	p.R1035W	ENST00000216286	NM_007361.3	1035	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9706.1	3103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGGGGGG	NONE	byFrequency	.	PROSITE_profiles:PS51162,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF5,Pfam_domain:PF00086,Gene3D:4.10.800.10,Superfamily_domains:SSF57610	.	.	ENSP00000216286	.	15/22	.	.	.	.	.	.	.	.	rs780404034	15/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Arg304Trp,ENST00000556572,;NID2,missense_variant,p.Arg934Trp,ENST00000541773,;NID2,missense_variant,p.Arg1035Trp,ENST00000216286,;NID2,non_coding_transcript_exon_variant,,ENST00000557051,;NID2,upstream_gene_variant,,ENST00000553297,;	3103	100	133	SUCCESS
IGHV4OR15-8	28317	.	GRCh37	15	22472949	22472949	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771208685	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	38	94	0	ENST00000557788.2:c.322G>A	p.Ala108Thr	p.A108T	ENST00000557788		108	Gcg/Acg	0	.	.	.	.	.	T	A/T	IG_V_gene	YES	.	322	MUTECT|MUSE|VARSCANS	.	GTCCGCGGCGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000473987	.	2/2	.	.	.	.	.	.	.	.	rs771208685	2/2	PASS	ENST00000557788	Transcript	.	.	ENSG00000259261	5658	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.209)	.	deleterious(0.05)	.	IV4F8_HUMAN	IGHV4OR15-8	HGNC	.	.	UPI0003335098	SNV	IGHV4OR15-8,missense_variant,p.Ala108Thr,ENST00000557788,;	322	94	159	SUCCESS
RYR3	6263	.	GRCh37	15	33990117	33990117	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	210	81	136	0	ENST00000389232.4:c.6171del	p.Asn2058ThrfsTer3	p.N2058Tfs*3	ENST00000389232	NM_001036.3	2057	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS45210.1	6169	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCATCCCAAC	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF01365,Gene3D:1n4kA02,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	40/104	.	.	.	.	.	.	.	.	.	40/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	deletion	RYR3,frameshift_variant,p.Asn2058ThrfsTer3,ENST00000389232,;RYR3,frameshift_variant,p.Asn2058ThrfsTer3,ENST00000415757,;	6239	136	291	SUCCESS
C15orf43	0	.	GRCh37	15	45250668	45250668	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	57	56	0	ENST00000340827.3:c.244G>T	p.Ala82Ser	p.A82S	ENST00000340827	NM_152448.2	82	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS10115.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGGCTTTG	NONE	.	.	Pfam_domain:PF15101	.	.	ENSP00000340644	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000340827	Transcript	.	.	ENSG00000167014	28520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	tolerated(0.39)	.	CO043_HUMAN	C15orf43	HGNC	.	.	UPI000007232D	SNV	C15orf43,missense_variant,p.Ala82Ser,ENST00000340827,;RNU6-1332P,upstream_gene_variant,,ENST00000516666,;C15orf43,3_prime_UTR_variant,,ENST00000557864,;C15orf43,3_prime_UTR_variant,,ENST00000559137,;	261	56	99	SUCCESS
IGDCC4	57722	.	GRCh37	15	65676694	65676694	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	28	1	ENST00000352385.2:c.3406C>T	p.His1136Tyr	p.H1136Y	ENST00000352385	NM_020962.1	1136	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS10206.1	3406	SOMATICSNIPER|VARSCANS	.	AGAGTGGACAA	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40	.	.	ENSP00000319623	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,missense_variant,p.His1136Tyr,ENST00000352385,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,downstream_gene_variant,,ENST00000560319,;IGDCC4,downstream_gene_variant,,ENST00000561309,;	3616	29	71	SUCCESS
HCN4	10021	.	GRCh37	15	73635902	73635902	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	54	94	0	ENST00000261917.3:c.1033G>T	p.Asp345Tyr	p.D345Y	ENST00000261917	NM_005477.2	345	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10248.1	1033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCTACCA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000261917	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	.	deleterious(0)	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,missense_variant,p.Asp345Tyr,ENST00000261917,;RP11-272D12.1,downstream_gene_variant,,ENST00000557981,;RP11-272D12.1,downstream_gene_variant,,ENST00000558742,;	2027	94	154	SUCCESS
IGF1R	3480	.	GRCh37	15	99482513	99482513	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758843665	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	67	95	0	ENST00000268035.6:c.3381C>A	p.Asn1127Lys	p.N1127K	ENST00000268035	NM_000875.3	1127	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS10378.1	3381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAACGCCAA	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,PIRSF_domain:PIRSF000620,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000268035	.	18/21	.	.	.	.	.	.	.	.	rs758843665	18/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Asn1126Lys,ENST00000558762,;IGF1R,missense_variant,p.Asn1127Lys,ENST00000268035,;IGF1R,downstream_gene_variant,,ENST00000560972,;	3992	95	152	SUCCESS
TTC23	64927	.	GRCh37	15	99768916	99768916	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	86	1	ENST00000394132.2:c.2T>A	p.Met1?	p.M1?	ENST00000394132	NM_001288615.1	1	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS10379.2	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCATATTT	NONE	.	.	hmmpanther:PTHR14485:SF1,hmmpanther:PTHR14485	.	.	ENSP00000377690	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000394132	Transcript	.	.	ENSG00000103852	25730	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	TTC23_HUMAN	TTC23	HGNC	H0YNV8_HUMAN,H0YNH7_HUMAN,H0YN45_HUMAN,H0YMN1_HUMAN,H0YM10_HUMAN,H0YKN9_HUMAN,B3KMY5_HUMAN	.	UPI00004525C9	SNV	TTC23,start_lost,p.Met1?,ENST00000560235,;TTC23,start_lost,p.Met1?,ENST00000560772,;TTC23,start_lost,p.Met1?,ENST00000394129,;TTC23,start_lost,p.Met1?,ENST00000561365,;TTC23,start_lost,p.Met1?,ENST00000262074,;TTC23,start_lost,p.Met1?,ENST00000558078,;TTC23,start_lost,p.Met1?,ENST00000558663,;TTC23,start_lost,p.Met1?,ENST00000394132,;TTC23,start_lost,p.Met1?,ENST00000558613,;TTC23,start_lost,p.Met1?,ENST00000394130,;TTC23,start_lost,p.Met1?,ENST00000394136,;TTC23,start_lost,p.Met1?,ENST00000560279,;TTC23,start_lost,p.Met1?,ENST00000560860,;TTC23,start_lost,p.Met1?,ENST00000394135,;TTC23,start_lost,p.Met1?,ENST00000459771,;TTC23,non_coding_transcript_exon_variant,,ENST00000468436,;	820	87	99	SUCCESS
C16orf45	0	.	GRCh37	16	15596120	15596143	+	intron_variant	Intron	DEL	GAATAACAATCATAGCCAGGATGT	GAATAACAATCATAGCCAGGATGT	-	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	GAATAACAATCATAGCCAGGATGT	GAATAACAATCATAGCCAGGATGT	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	70	0	ENST00000300006.4:c.107-13039_107-13016del		p.*36*	ENST00000300006	NM_033201.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10561.1	.	INDELOCATOR|VARSCANI	.	ACTGGAGAATAACAATCATAGCCAGGATGTGAAGC	NONE	.	.	.	.	.	ENSP00000300006	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300006	Transcript	.	.	ENSG00000166780	19213	3	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP045_HUMAN	C16orf45	HGNC	B4DE25_HUMAN	.	UPI000006CFC7	deletion	C16orf45,5_prime_UTR_variant,,ENST00000452191,;RP11-1021N1.1,intron_variant,,ENST00000568766,;C16orf45,intron_variant,,ENST00000300006,;C16orf45,intron_variant,,ENST00000566490,;C16orf45,intron_variant,,ENST00000567550,;RP11-1021N1.1,intron_variant,,ENST00000567442,;RP11-1021N1.1,intron_variant,,ENST00000568222,;C16orf45,intron_variant,,ENST00000570249,;C16orf45,intron_variant,,ENST00000561813,;	.	70	83	SUCCESS
C17orf96	0	.	GRCh37	17	36830528	36830528	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	16	0	ENST00000325814.5:c.221A>T	p.Gln74Leu	p.Q74L	ENST00000325814	NM_001130677.1	74	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45661.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGAGGG	NONE	.	.	hmmpanther:PTHR23187:SF1,hmmpanther:PTHR23187	.	.	ENSP00000317905	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325814	Transcript	.	.	ENSG00000179294	34493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.09)	.	CQ096_HUMAN	C17orf96	HGNC	.	.	UPI0000198ACE	SNV	C17orf96,missense_variant,p.Gln74Leu,ENST00000325814,;	660	16	52	SUCCESS
DNAI2	64446	.	GRCh37	17	72310262	72310262	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	51	98	0	ENST00000311014.6:c.1725G>A		p.X575_splice	ENST00000311014		575	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS11697.1	1725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCAACC	NONE	.	.	.	.	.	ENSP00000400252	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000446837	Transcript	.	.	ENSG00000171595	18744	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNAI2_HUMAN	DNAI2	HGNC	.	.	UPI000013EC1D	SNV	DNAI2,missense_variant,p.Ala381Thr,ENST00000307504,;DNAI2,synonymous_variant,p.%3D,ENST00000446837,;DNAI2,synonymous_variant,p.%3D,ENST00000582036,;DNAI2,synonymous_variant,p.%3D,ENST00000579490,;DNAI2,synonymous_variant,p.%3D,ENST00000311014,;RP11-647F2.2,upstream_gene_variant,,ENST00000585167,;DNAI2,splice_region_variant,,ENST00000579055,;DNAI2,non_coding_transcript_exon_variant,,ENST00000579312,;	2031	98	126	SUCCESS
TP53	7157	.	GRCh37	17	7577589	7577594	+	inframe_deletion	In_Frame_Del	DEL	GTGGTA	GTGGTA	-	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	GTGGTA	GTGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	17	23	65	0	ENST00000269305.4:c.687_692del	p.Thr230_Thr231del	p.T230_T231del	ENST00000269305	NM_001126112.2	229	tgTACCACc/tgc	0	.	.	.	.	.	-	CTT/C	protein_coding	YES	CCDS11118.1	687-692	INDELOCATOR*|PINDEL	.	TGGATGGTGGTACAGTC	CODON|p.0?|c.1_1182del1182|6,CODON|p.I232F|c.694A>T|11,CODON|p.I232V|c.694A>G|5,CODON|p.I232F|c.694A>T|4,CODON|p.I232F|c.694A>T|4,CODON|p.I139F|c.415A>T|4,CODON|p.T231T|c.693C>T|5,CODON|p.T231T|c.693C>A|3,CODON|p.T231I|c.692C>T|3,CODON|p.T231S|c.691A>T|3,CODON|p.T230I|c.689C>T|9,CODON|p.C229fs*10|c.686_687delGT|9,CODON|p.C229fs*10|c.686_687delGT|3,CODON|p.C229fs*10|c.686_687delGT|3,CODON|p.C136fs*10|c.407_408delGT|3,CODON|p.T230P|c.688A>C|4,CODON|p.C229*|c.687T>A|3,CODON|p.C229fs*10|c.685_686delTG|5,BUFFER|p.N235T|c.704A>C|3,BUFFER|p.N235I|c.704A>T|4,BUFFER|p.N235S|c.704A>G|15,BUFFER|p.N235D|c.703A>G|7,BUFFER|p.Y234delY|c.700_702delTAC|3,BUFFER|p.Y234*|c.702C>A|4,BUFFER|p.Y234S|c.701A>C|6,BUFFER|p.Y234C|c.701A>G|11,BUFFER|p.Y141C|c.422A>G|21,BUFFER|p.Y234C|c.701A>G|89,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|6,BUFFER|p.Y234H|c.700T>C|6,BUFFER|p.Y234H|c.700T>C|23,BUFFER|p.Y141H|c.421T>C|6,BUFFER|p.Y234N|c.700T>A|14,BUFFER|p.Y234H|c.700T>C|6,BUFFER|p.Y234D|c.700T>G|4,BUFFER|p.H233L|c.698A>T|3,BUFFER|p.H233Y|c.697C>T|6,BUFFER|p.I232T|c.695T>C|8,BUFFER|p.I232S|c.695T>G|5,BUFFER|p.I232S|c.695T>G|5,BUFFER|p.I232N|c.695T>A|6,BUFFER|p.I139S|c.416T>G|5,BUFFER|p.I232S|c.695T>G|7,BUFFER|p.D228D|c.684C>T|3,BUFFER|p.D228E|c.684C>G|4,BUFFER|p.D228G|c.683A>G|5,BUFFER|p.D228Y|c.682G>T|3,BUFFER|p.D228N|c.682G>A|6,BUFFER|p.S227F|c.680C>T|8,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.S134P|c.400T>C|3,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.G226D|c.677G>A|5,BUFFER|p.G226V|c.677G>T|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,inframe_deletion,p.Thr230_Thr231del,ENST00000413465,;TP53,inframe_deletion,p.Thr230_Thr231del,ENST00000420246,;TP53,inframe_deletion,p.Thr230_Thr231del,ENST00000269305,;TP53,inframe_deletion,p.Thr98_Thr99del,ENST00000509690,;TP53,inframe_deletion,p.Thr230_Thr231del,ENST00000359597,;TP53,inframe_deletion,p.Thr137_Thr138del,ENST00000514944,;TP53,inframe_deletion,p.Thr230_Thr231del,ENST00000445888,;TP53,inframe_deletion,p.Thr230_Thr231del,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	877-882	65	40	SUCCESS
KEAP1	9817	.	GRCh37	19	10610154	10610154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	28	52	0	ENST00000171111.5:c.556G>A	p.Gly186Ser	p.G186S	ENST00000171111	NM_203500.1	186	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12239.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCCGATGG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Gly186Ser,ENST00000591419,;KEAP1,missense_variant,p.Gly186Ser,ENST00000591039,;KEAP1,missense_variant,p.Gly186Ser,ENST00000393623,;KEAP1,missense_variant,p.Gly186Ser,ENST00000171111,;KEAP1,missense_variant,p.Gly186Ser,ENST00000592055,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;	1104	52	38	SUCCESS
DOCK6	57572	.	GRCh37	19	11339628	11339628	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	40	85	0	ENST00000294618.7:c.2802C>G	p.Phe934Leu	p.F934L	ENST00000294618	NM_020812.3	934	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS45975.1	2802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAAGAA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	.	.	ENSP00000294618	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000294618	Transcript	1	.	ENSG00000130158	19189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.541)	.	tolerated(0.21)	.	DOCK6_HUMAN	DOCK6	HGNC	.	.	UPI000059D66F	SNV	DOCK6,missense_variant,p.Phe413Leu,ENST00000590680,;DOCK6,missense_variant,p.Phe273Leu,ENST00000319867,;DOCK6,missense_variant,p.Phe934Leu,ENST00000294618,;DOCK6,missense_variant,p.Phe223Leu,ENST00000587656,;DOCK6,downstream_gene_variant,,ENST00000585904,;RN7SL298P,downstream_gene_variant,,ENST00000581369,;DOCK6,non_coding_transcript_exon_variant,,ENST00000590452,;	2814	85	52	SUCCESS
MAST1	22983	.	GRCh37	19	12977547	12977547	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	44	50	0	ENST00000251472.4:c.2110T>C	p.Phe704Leu	p.F704L	ENST00000251472	NM_014975.2	704	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS32921.1	2110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTTCTCT	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:1.10.510.10,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150,PROSITE_profiles:PS51285	.	.	ENSP00000251472	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000251472	Transcript	.	.	ENSG00000105613	19034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	MAST1_HUMAN	MAST1	HGNC	.	.	UPI000004A042	SNV	MAST1,missense_variant,p.Phe704Leu,ENST00000251472,;HOOK2,intron_variant,,ENST00000589765,;MAST1,downstream_gene_variant,,ENST00000589040,;MAST1,upstream_gene_variant,,ENST00000590553,;	2149	50	58	SUCCESS
LPAR2	9170	.	GRCh37	19	19738150	19738150	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	9	0	ENST00000407877.3:c.1-57G>A		p.*1*	ENST00000407877	NM_004720.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12407.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	AGGGGCGGCAG	NONE	.	.	.	.	.	ENSP00000443256	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000542587	Transcript	.	.	ENSG00000064547	3168	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPAR2_HUMAN	LPAR2	HGNC	K7ER68_HUMAN,K7ENG7_HUMAN,K7ELJ6_HUMAN,K7EJJ9_HUMAN	.	UPI0000048FD7	SNV	LPAR2,5_prime_UTR_variant,,ENST00000586703,;LPAR2,5_prime_UTR_variant,,ENST00000591042,;LPAR2,intron_variant,,ENST00000542587,;LPAR2,intron_variant,,ENST00000588233,;LPAR2,intron_variant,,ENST00000588461,;LPAR2,intron_variant,,ENST00000592061,;LPAR2,intron_variant,,ENST00000407877,;GMIP,downstream_gene_variant,,ENST00000587238,;GMIP,downstream_gene_variant,,ENST00000203556,;GMIP,downstream_gene_variant,,ENST00000445806,;LPAR2,downstream_gene_variant,,ENST00000589311,;LPAR2,downstream_gene_variant,,ENST00000590629,;	.	9	21	SUCCESS
CYP2A6	1548	.	GRCh37	19	41352896	41352896	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs138978736	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	111	0	ENST00000301141.5:c.715C>G	p.Gln239Glu	p.Q239E	ENST00000301141	NM_000762.5	239	Cag/Gag	0	.	T:0.0015	.	T:0.0014	.	C	Q/E	protein_coding	YES	CCDS12568.1	715	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTGAAAGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	T:0.002	.	ENSP00000301141	T:0.001	5/9	.	.	.	.	.	.	.	.	rs138978736,COSM1129846	5/9	PASS	ENST00000301141	Transcript	1	T:0.0012	ENSG00000255974	2610	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.014)	T:0	.	0,1	CP2A6_HUMAN	CYP2A6	HGNC	.	.	UPI000013E6D2	SNV	CYP2A6,missense_variant,p.Gln239Glu,ENST00000301141,;CYP2A6,3_prime_UTR_variant,,ENST00000600495,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000596719,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,upstream_gene_variant,,ENST00000599960,;	736	111	119	SUCCESS
PSG2	5670	.	GRCh37	19	43579527	43579527	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	51	0	ENST00000406487.1:c.688C>G	p.Pro230Ala	p.P230A	ENST00000406487	NM_031246.3	230	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS12616.1	688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGGTCAC	BUFFER|p.R227C|c.679C>T|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF109,PROSITE_profiles:PS50835	.	.	ENSP00000385706	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000406487	Transcript	.	.	ENSG00000242221	9519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.821)	.	deleterious(0.01)	.	PSG2_HUMAN	PSG2	HGNC	.	.	UPI000013CCF5	SNV	PSG2,missense_variant,p.Pro12Ala,ENST00000329509,;PSG2,missense_variant,p.Pro230Ala,ENST00000406487,;PSG2,intron_variant,,ENST00000593482,;	787	52	66	SUCCESS
ZNF816	125893	.	GRCh37	19	53454513	53454513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	101	0	ENST00000357666.4:c.515C>A	p.Thr172Asn	p.T172N	ENST00000357666	NM_001031665.2	172	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS33096.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAGTCTGA	NONE	.	.	hmmpanther:PTHR24377:SF236,hmmpanther:PTHR24377	.	.	ENSP00000350295	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000357666	Transcript	.	.	ENSG00000180257	26995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	deleterious(0.03)	.	ZN816_HUMAN	ZNF816	HGNC	I3L0H5_HUMAN	.	UPI0000251D78	SNV	ZNF816,missense_variant,p.Thr172Asn,ENST00000444460,;ZNF816,missense_variant,p.Thr172Asn,ENST00000357666,;ZNF816,intron_variant,,ENST00000434371,;ZNF321P,intron_variant,,ENST00000391777,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,;CTD-2620I22.1,downstream_gene_variant,,ENST00000600068,;	816	101	100	SUCCESS
ZNF331	55422	.	GRCh37	19	54080365	54080365	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	90	126	1	ENST00000253144.9:c.551A>T	p.Glu184Val	p.E184V	ENST00000253144	NM_018555.5	184	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33102.1	551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGAGAAGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000253144	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000253144	Transcript	.	.	ENSG00000130844	15489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.07)	.	ZN331_HUMAN	ZNF331	HGNC	Q8NBU2_HUMAN,Q71QC9_HUMAN,Q71QC6_HUMAN,Q71QC5_HUMAN,Q71QC3_HUMAN,Q6PK05_HUMAN,E7EWU7_HUMAN,E7EV14_HUMAN,E7ETJ5_HUMAN,E7ERM8_HUMAN,E7EPT0_HUMAN,E7EPG5_HUMAN,E7ENR0_HUMAN,D6RH27_HUMAN	.	UPI0000039DC3	SNV	ZNF331,missense_variant,p.Glu184Val,ENST00000512387,;ZNF331,missense_variant,p.Glu184Val,ENST00000511593,;ZNF331,missense_variant,p.Glu184Val,ENST00000411977,;ZNF331,missense_variant,p.Glu184Val,ENST00000449416,;ZNF331,missense_variant,p.Glu184Val,ENST00000513999,;ZNF331,missense_variant,p.Glu184Val,ENST00000511154,;ZNF331,missense_variant,p.Glu184Val,ENST00000253144,;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000514374,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000511567,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000504493,;	1884	127	206	SUCCESS
LILRA3	11026	.	GRCh37	19	54802753	54802753	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	78	80	0	ENST00000251390.3:c.688G>T	p.Val230Leu	p.V230L	ENST00000251390	NM_006865.3	230	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS12887.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACTGAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000251390	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000251390	Transcript	.	.	ENSG00000170866	6604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	deleterious(0)	.	LIRA3_HUMAN	LILRA3	HGNC	.	.	UPI0000116F1D	SNV	LILRA3,missense_variant,p.Val247Leu,ENST00000391745,;LILRA3,missense_variant,p.Val230Leu,ENST00000251390,;LILRA3,missense_variant,p.Val166Leu,ENST00000391744,;AC010518.3,upstream_gene_variant,,ENST00000417373,;	780	80	91	SUCCESS
LILRA5	353514	.	GRCh37	19	54822850	54822850	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	76	92	0	ENST00000432233.3:c.546C>T	p.Ser182=	p.S182=	ENST00000432233	NM_181879.2	182	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12888.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGGAGAG	NONE	.	.	hmmpanther:PTHR11738,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000301219	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000301219	Transcript	.	.	ENSG00000187116	16309	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRA5_HUMAN	LILRA5	HGNC	.	.	UPI0000034C06	SNV	LILRA5,synonymous_variant,p.%3D,ENST00000346508,;LILRA5,synonymous_variant,p.%3D,ENST00000432233,;LILRA5,synonymous_variant,p.%3D,ENST00000301219,;LILRA5,synonymous_variant,p.%3D,ENST00000446712,;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000477720,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;	666	92	149	SUCCESS
EPN1	29924	.	GRCh37	19	56196948	56196948	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369409343	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	64	0	ENST00000270460.6:c.415C>T	p.Arg139Trp	p.R139W	ENST00000270460	NM_001130072.1	139	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS46198.1	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCGGCTG	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50942,hmmpanther:PTHR12276:SF48,hmmpanther:PTHR12276,Pfam_domain:PF01417,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464	.	T:0.0001	ENSP00000406209	.	4/11	.	.	.	.	.	.	.	.	rs369409343	4/11	PASS	ENST00000411543	Transcript	.	.	ENSG00000063245	21604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	EPN1_HUMAN	EPN1	HGNC	.	.	UPI000059D7B7	SNV	EPN1,missense_variant,p.Arg250Trp,ENST00000411543,;EPN1,missense_variant,p.Arg139Trp,ENST00000270460,;EPN1,missense_variant,p.Arg139Trp,ENST00000085079,;AC010525.2,downstream_gene_variant,,ENST00000390145,;EPN1,non_coding_transcript_exon_variant,,ENST00000591743,;	1295	64	110	SUCCESS
CERS4	79603	.	GRCh37	19	8326959	8326959	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	57	0	ENST00000251363.5:c.1151G>A	p.Gly384Glu	p.G384E	ENST00000251363	NM_024552.2	384	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12197.1	1151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGGGCGTC	NONE	.	.	.	.	.	ENSP00000251363	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000251363	Transcript	.	.	ENSG00000090661	23747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.147)	.	tolerated(0.64)	.	CERS4_HUMAN	CERS4	HGNC	H0YNR6_HUMAN,H0YMY6_HUMAN,H0YLY3_HUMAN,H0YKS3_HUMAN,H0YKR4_HUMAN,H0YKC9_HUMAN	.	UPI000013CCFB	SNV	CERS4,missense_variant,p.Gly384Glu,ENST00000559450,;CERS4,missense_variant,p.Gly333Glu,ENST00000558331,;CERS4,missense_variant,p.Gly384Glu,ENST00000251363,;CERS4,missense_variant,p.Gly296Glu,ENST00000559336,;CERS4,non_coding_transcript_exon_variant,,ENST00000595722,;CERS4,downstream_gene_variant,,ENST00000558302,;CERS4,non_coding_transcript_exon_variant,,ENST00000557925,;CERS4,non_coding_transcript_exon_variant,,ENST00000599275,;CERS4,downstream_gene_variant,,ENST00000558501,;	1451	57	59	SUCCESS
FLG	2312	.	GRCh37	1	152282309	152282309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	31	66	1	ENST00000368799.1:c.5053C>A	p.His1685Asn	p.H1685N	ENST00000368799	NM_002016.1	1685	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS30860.1	5053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGGCGGG	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.His1685Asn,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5089	67	156	SUCCESS
APOA1BP	0	.	GRCh37	1	156562201	156562201	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	60	42	0	ENST00000368235.3:c.336G>T	p.Leu112=	p.L112=	ENST00000368235	NM_144772.2	112	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1145.1	336	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGGTCAT	NONE	.	.	Superfamily_domains:SSF64153,Gene3D:3.40.50.10260,TIGRFAM_domain:TIGR00197,Pfam_domain:PF03853,hmmpanther:PTHR13232,hmmpanther:PTHR13232:SF11,HAMAP:MF_01966,PROSITE_profiles:PS51385	.	.	ENSP00000357218	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000368235	Transcript	.	.	ENSG00000163382	18453	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NNRE_HUMAN	APOA1BP	HGNC	.	.	UPI000013E275	SNV	APOA1BP,synonymous_variant,p.%3D,ENST00000368235,;APOA1BP,synonymous_variant,p.%3D,ENST00000368234,;APOA1BP,synonymous_variant,p.%3D,ENST00000368233,;GPATCH4,downstream_gene_variant,,ENST00000438976,;GPATCH4,downstream_gene_variant,,ENST00000368232,;GPATCH4,downstream_gene_variant,,ENST00000415314,;AL365181.1,upstream_gene_variant,,ENST00000581084,;APOA1BP,non_coding_transcript_exon_variant,,ENST00000467374,;GPATCH4,downstream_gene_variant,,ENST00000497287,;APOA1BP,upstream_gene_variant,,ENST00000488840,;GPATCH4,downstream_gene_variant,,ENST00000531129,;GPATCH4,downstream_gene_variant,,ENST00000498756,;GPATCH4,downstream_gene_variant,,ENST00000498641,;GPATCH4,downstream_gene_variant,,ENST00000529520,;GPATCH4,downstream_gene_variant,,ENST00000494414,;GPATCH4,downstream_gene_variant,,ENST00000473910,;GPATCH4,downstream_gene_variant,,ENST00000474904,;GPATCH4,downstream_gene_variant,,ENST00000463513,;	379	42	97	SUCCESS
OLFML2B	25903	.	GRCh37	1	161989951	161989951	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1260173313	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	55	0	ENST00000294794.3:c.196G>A	p.Val66Ile	p.V66I	ENST00000294794	NM_015441.1	66	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS1236.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGACCTTGT	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	.	.	ENSP00000294794	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000294794	Transcript	.	.	ENSG00000162745	24558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0.01)	.	OLM2B_HUMAN	OLFML2B	HGNC	H0YEW8_HUMAN,H0YE85_HUMAN	.	UPI00001D7DE0	SNV	OLFML2B,missense_variant,p.Val66Ile,ENST00000367940,;OLFML2B,missense_variant,p.Val66Ile,ENST00000294794,;	620	55	88	SUCCESS
CLCNKB	1188	.	GRCh37	1	16378853	16378853	+	synonymous_variant	Silent	SNP	C	C	T	rs146084461	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	51	85	0	ENST00000375679.4:c.1569C>T	p.Thr523=	p.T523=	ENST00000375679	NM_000085.4	523	acC/acT	0	T:0.0014	T:0.0053	.	T:0	.	T	T	protein_coding	YES	CCDS168.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCGTCAT	CODON|p.V524I|c.1570G>A|3	byFrequency|byCluster|by1000G	.	Prints_domain:PR00762,Superfamily_domains:SSF81340,Gene3D:1otsB00,hmmpanther:PTHR11689:SF78,hmmpanther:PTHR11689	T:0	T:0	ENSP00000364831	T:0	15/20	.	.	.	.	.	.	.	.	rs146084461	15/20	PASS	ENST00000375679	Transcript	.	T:0.0014	ENSG00000184908	2027	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CLCKB_HUMAN	CLCNKB	HGNC	.	.	UPI000040E261	SNV	CLCNKB,synonymous_variant,p.%3D,ENST00000375679,;CLCNKB,synonymous_variant,p.%3D,ENST00000375667,;CLCNKB,synonymous_variant,p.%3D,ENST00000431772,;	1680	85	129	SUCCESS
GNB1	2782	.	GRCh37	1	1721974	1721974	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	40	81	0	ENST00000378609.4:c.559G>T	p.Val187Phe	p.V187F	ENST00000378609	NM_002074.3	187	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS34.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACATCTC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000367872	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000378609	Transcript	.	.	ENSG00000078369	4396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	GBB1_HUMAN	GNB1	HGNC	Q71UM7_HUMAN,Q71UM6_HUMAN,F6UT28_HUMAN,B3KVK2_HUMAN,B1AKQ8_HUMAN	.	UPI00000230B3	SNV	GNB1,missense_variant,p.Val187Phe,ENST00000378609,;GNB1,downstream_gene_variant,,ENST00000434686,;GNB1,downstream_gene_variant,,ENST00000439272,;GNB1,non_coding_transcript_exon_variant,,ENST00000471354,;GNB1,non_coding_transcript_exon_variant,,ENST00000461893,;	891	81	117	SUCCESS
XKR8	55113	.	GRCh37	1	28293332	28293332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	46	72	0	ENST00000373884.5:c.809A>G	p.Tyr270Cys	p.Y270C	ENST00000373884	NM_018053.2	270	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS315.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTATTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF8,Pfam_domain:PF09815	.	.	ENSP00000362991	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373884	Transcript	.	.	ENSG00000158156	25508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0.01)	.	XKR8_HUMAN	XKR8	HGNC	Q9NW55_HUMAN	.	UPI000006F5DC	SNV	XKR8,missense_variant,p.Tyr270Cys,ENST00000373884,;EYA3,downstream_gene_variant,,ENST00000436342,;EYA3,downstream_gene_variant,,ENST00000373871,;XKR8,downstream_gene_variant,,ENST00000481387,;	1417	72	101	SUCCESS
HECTD3	79654	.	GRCh37	1	45474271	45474271	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs750318785	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	36	76	0	ENST00000372172.4:c.1175del	p.Arg392HisfsTer5	p.R392Hfs*5	ENST00000372172	NM_024602.5	392	cGa/ca	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS41318.1	1175	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATATCGCACC	NONE	.	.	hmmpanther:PTHR11254,PROSITE_profiles:PS51284	.	.	ENSP00000361245	.	8/21	.	.	.	.	.	.	.	.	rs750318785	8/21	PASS	ENST00000372172	Transcript	.	.	ENSG00000126107	26117	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HECD3_HUMAN	HECTD3	HGNC	A1A4G1_HUMAN	.	UPI0000204F79	deletion	HECTD3,frameshift_variant,p.Arg392HisfsTer5,ENST00000372172,;HECTD3,upstream_gene_variant,,ENST00000372168,;UROD,upstream_gene_variant,,ENST00000428106,;UROD,upstream_gene_variant,,ENST00000434478,;UROD,upstream_gene_variant,,ENST00000246337,;UROD,upstream_gene_variant,,ENST00000462688,;UROD,upstream_gene_variant,,ENST00000491773,;HECTD3,upstream_gene_variant,,ENST00000486132,;UROD,upstream_gene_variant,,ENST00000469548,;UROD,upstream_gene_variant,,ENST00000494399,;UROD,upstream_gene_variant,,ENST00000478467,;UROD,upstream_gene_variant,,ENST00000486699,;UROD,upstream_gene_variant,,ENST00000463092,;UROD,upstream_gene_variant,,ENST00000490385,;HECTD3,upstream_gene_variant,,ENST00000484564,;HECTD3,upstream_gene_variant,,ENST00000466423,;UROD,upstream_gene_variant,,ENST00000460334,;UROD,upstream_gene_variant,,ENST00000496439,;HECTD3,upstream_gene_variant,,ENST00000486296,;UROD,upstream_gene_variant,,ENST00000491300,;UROD,upstream_gene_variant,,ENST00000473012,;HECTD3,upstream_gene_variant,,ENST00000487488,;UROD,upstream_gene_variant,,ENST00000460906,;UROD,upstream_gene_variant,,ENST00000461035,;	1247	76	155	SUCCESS
CACHD1	57685	.	GRCh37	1	65147714	65147714	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	118	224	0	ENST00000290039.5:c.3358G>C	p.Val1120Leu	p.V1120L	ENST00000290039	NM_020925.2	1120	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS628.2	3358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGTCATC	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF28	.	.	ENSP00000290039	.	26/27	.	.	.	.	.	.	.	.	COSM1343893	26/27	PASS	ENST00000290039	Transcript	.	.	ENSG00000158966	29314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.094)	.	tolerated(0.09)	1	.	CACHD1	HGNC	.	.	UPI0000458A70	SNV	CACHD1,missense_variant,p.Val1120Leu,ENST00000290039,;CACHD1,missense_variant,p.Val1171Leu,ENST00000371073,;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,;	3464	224	283	SUCCESS
MCM5	4174	.	GRCh37	22	35802596	35802596	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	32	0	ENST00000216122.4:c.474C>T	p.Ala158=	p.A158=	ENST00000216122	NM_006739.3	158	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13915.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCTCTGC	NONE	.	.	hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Gene3D:2.40.50.140,SMART_domains:SM00350,Superfamily_domains:SSF50249	.	.	ENSP00000216122	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000216122	Transcript	.	.	ENSG00000100297	6948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCM5_HUMAN	MCM5	HGNC	B1AHB2_HUMAN,B1AHB0_HUMAN	.	UPI000000D8F4	SNV	MCM5,synonymous_variant,p.%3D,ENST00000444778,;MCM5,synonymous_variant,p.%3D,ENST00000382011,;MCM5,synonymous_variant,p.%3D,ENST00000416905,;MCM5,synonymous_variant,p.%3D,ENST00000216122,;MCM5,intron_variant,,ENST00000417343,;MCM5,upstream_gene_variant,,ENST00000464908,;MCM5,upstream_gene_variant,,ENST00000493569,;MCM5,upstream_gene_variant,,ENST00000465557,;MCM5,downstream_gene_variant,,ENST00000451351,;MCM5,upstream_gene_variant,,ENST00000493076,;	628	32	51	SUCCESS
ST13	6767	.	GRCh37	22	41252621	41252621	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	35	0	ENST00000216218.3:c.-77G>T		p.*26*	ENST00000216218	NM_001278589.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14006.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGCAGAAG	NONE	.	.	.	.	.	ENSP00000216218	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000216218	Transcript	.	.	ENSG00000100380	11343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F10A1_HUMAN	ST13	HGNC	Q0IJ56_HUMAN,F6VDH7_HUMAN,B7ZA40_HUMAN,B4E0U6_HUMAN	.	UPI000013605D	SNV	ST13,5_prime_UTR_variant,,ENST00000216218,;ST13,upstream_gene_variant,,ENST00000411695,;XPNPEP3,upstream_gene_variant,,ENST00000357137,;DNAJB7,downstream_gene_variant,,ENST00000307221,;XPNPEP3,upstream_gene_variant,,ENST00000414396,;XPNPEP3,upstream_gene_variant,,ENST00000541156,;XPNPEP3,upstream_gene_variant,,ENST00000482652,;XPNPEP3,upstream_gene_variant,,ENST00000417688,;ST13,upstream_gene_variant,,ENST00000455824,;XPNPEP3,upstream_gene_variant,,ENST00000428799,;	406	35	68	SUCCESS
KCNF1	3754	.	GRCh37	2	11052594	11052594	+	synonymous_variant	Silent	SNP	C	C	T	rs747908828	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	24	0	ENST00000295082.1:c.42C>T	p.Ser14=	p.S14=	ENST00000295082	NM_002236.4	14	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1676.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCAGAG	NONE	.	.	.	.	.	ENSP00000295082	.	1/1	.	.	.	.	.	.	.	.	rs747908828,COSM714782	1/1	PASS	ENST00000295082	Transcript	.	.	ENSG00000162975	6246	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNF1_HUMAN	KCNF1	HGNC	.	.	UPI000012DC98	SNV	KCNF1,synonymous_variant,p.%3D,ENST00000295082,;	532	24	37	SUCCESS
DYTN	391475	.	GRCh37	2	207572184	207572184	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	74	116	0	ENST00000452335.2:c.138T>C	p.Arg46=	p.R46=	ENST00000452335	NM_001093730.1	46	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS46502.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGACGCAG	NONE	.	.	Superfamily_domains:SSF47473,Pfam_domain:PF09068,Gene3D:1.10.238.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	.	.	ENSP00000396593	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000452335	Transcript	.	.	ENSG00000232125	23279	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYTN_HUMAN	DYTN	HGNC	.	.	UPI0000EE0AB9	SNV	DYTN,synonymous_variant,p.%3D,ENST00000452335,;DYTN,upstream_gene_variant,,ENST00000477734,;	255	116	176	SUCCESS
FN1	2335	.	GRCh37	2	216299523	216299523	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	66	0	ENST00000359671.1:c.173A>G	p.His58Arg	p.H58R	ENST00000359671		58	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS42814.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAGTGTTTT	NONE	.	.	PROSITE_profiles:PS51091,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,PROSITE_patterns:PS01253,Pfam_domain:PF00039,Gene3D:2.10.70.10,SMART_domains:SM00058,Superfamily_domains:SSF57603	.	.	ENSP00000346839	.	2/46	.	.	.	.	.	.	.	.	.	2/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	tolerated(0.32)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.His58Arg,ENST00000357867,;FN1,missense_variant,p.His58Arg,ENST00000432072,;FN1,missense_variant,p.His58Arg,ENST00000421182,;FN1,missense_variant,p.His58Arg,ENST00000443816,;FN1,missense_variant,p.His58Arg,ENST00000346544,;FN1,missense_variant,p.His58Arg,ENST00000345488,;FN1,missense_variant,p.His58Arg,ENST00000354785,;FN1,missense_variant,p.His58Arg,ENST00000426059,;FN1,missense_variant,p.His58Arg,ENST00000336916,;FN1,missense_variant,p.His58Arg,ENST00000359671,;FN1,missense_variant,p.His58Arg,ENST00000357009,;FN1,missense_variant,p.His58Arg,ENST00000446046,;FN1,missense_variant,p.His58Arg,ENST00000323926,;FN1,missense_variant,p.His58Arg,ENST00000356005,;AC012462.1,upstream_gene_variant,,ENST00000412951,;	543	66	78	SUCCESS
PFN4	375189	.	GRCh37	2	24342547	24342547	+	synonymous_variant	Silent	SNP	G	G	A	rs774869541	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	39	0	ENST00000313213.4:c.261C>T	p.Asn87=	p.N87=	ENST00000313213	NM_199346.1	87	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS1709.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGTTCTC	NONE	.	.	hmmpanther:PTHR11604,hmmpanther:PTHR11604:SF2,Pfam_domain:PF00235,Gene3D:3.30.450.30,SMART_domains:SM00392,Superfamily_domains:SSF55770	.	.	ENSP00000322170	.	4/5	.	.	.	.	.	.	.	.	rs774869541	4/5	PASS	ENST00000313213	Transcript	.	.	ENSG00000176732	31103	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROF4_HUMAN	PFN4	HGNC	.	.	UPI000006CFF1	SNV	PFN4,synonymous_variant,p.%3D,ENST00000313213,;PFN4,downstream_gene_variant,,ENST00000436622,;FAM228B,upstream_gene_variant,,ENST00000407625,;FAM228B,upstream_gene_variant,,ENST00000420135,;PFN4,non_coding_transcript_exon_variant,,ENST00000465360,;FAM228B,intron_variant,,ENST00000468799,;FAM228B,intron_variant,,ENST00000486967,;RP11-507M3.1,upstream_gene_variant,,ENST00000584973,;FAM228B,upstream_gene_variant,,ENST00000417898,;	633	39	37	SUCCESS
PREB	10113	.	GRCh37	2	27356194	27356194	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs768597251	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	55	1	ENST00000260643.2:c.337C>T	p.Gln113Ter	p.Q113*	ENST00000260643	NM_013388.4	113	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1738.1	337	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCTGCTCCT	NONE	byFrequency	.	hmmpanther:PTHR23284	.	.	ENSP00000260643	.	3/9	.	.	.	.	.	.	.	.	rs768597251	3/9	PASS	ENST00000260643	Transcript	.	.	ENSG00000138073	9356	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PREB_HUMAN	PREB	HGNC	Q05DB2_HUMAN	.	UPI0000073C9D	SNV	PREB,stop_gained,p.Gln113Ter,ENST00000406567,;PREB,stop_gained,p.Gln113Ter,ENST00000260643,;PREB,upstream_gene_variant,,ENST00000456259,;C2orf53,downstream_gene_variant,,ENST00000335524,;PREB,upstream_gene_variant,,ENST00000430533,;C2orf53,downstream_gene_variant,,ENST00000432962,;ABHD1,downstream_gene_variant,,ENST00000416071,;ABHD1,downstream_gene_variant,,ENST00000316470,;PREB,non_coding_transcript_exon_variant,,ENST00000416802,;PREB,3_prime_UTR_variant,,ENST00000444452,;PREB,non_coding_transcript_exon_variant,,ENST00000474802,;PREB,non_coding_transcript_exon_variant,,ENST00000468045,;ABHD1,downstream_gene_variant,,ENST00000420647,;ABHD1,downstream_gene_variant,,ENST00000448950,;ABHD1,downstream_gene_variant,,ENST00000489120,;ABHD1,downstream_gene_variant,,ENST00000496739,;PREB,upstream_gene_variant,,ENST00000441451,;	591	56	64	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43956801	43956801	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	68	0	ENST00000282406.4:c.2747T>C	p.Val916Ala	p.V916A	ENST00000282406	NM_172069.3	916	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1812.1	2747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTTGCAG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000282406	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	deleterious(0.02)	.	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Val916Ala,ENST00000282406,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;PLEKHH2,upstream_gene_variant,,ENST00000480103,;	2857	68	105	SUCCESS
APLF	200558	.	GRCh37	2	68694809	68694809	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	36	0	ENST00000303795.4:c.-55G>C		p.*19*	ENST00000303795	NM_173545.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1888.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGCGGAA	NONE	.	.	.	.	.	ENSP00000307004	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000303795	Transcript	.	.	ENSG00000169621	28724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APLF_HUMAN	APLF	HGNC	.	.	UPI0000074578	SNV	APLF,5_prime_UTR_variant,,ENST00000303795,;FBXO48,upstream_gene_variant,,ENST00000377957,;APLF,5_prime_UTR_variant,,ENST00000445692,;APLF,5_prime_UTR_variant,,ENST00000529851,;	117	36	54	SUCCESS
CTNNA2	1496	.	GRCh37	2	80846338	80846338	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	66	1	ENST00000402739.4:c.2559C>T	p.Ser853=	p.S853=	ENST00000402739	NM_001282597.1	853	agC/agT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42703.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGAAGCAGTGA	NONE	.	.	.	.	.	ENSP00000418191	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODIFIER	21/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,synonymous_variant,p.%3D,ENST00000402739,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000343114,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;AC008067.2,upstream_gene_variant,,ENST00000609950,;AC008067.2,upstream_gene_variant,,ENST00000430876,;	.	68	90	SUCCESS
CPSF3	51692	.	GRCh37	2	9613123	9613123	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775413626	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	57	0	ENST00000238112.3:c.2032G>A	p.Glu678Lys	p.E678K	ENST00000238112	NM_016207.3	678	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1664.1	2032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACGAGGCC	NONE	.	.	Pfam_domain:PF11718,SMART_domains:SM01098	.	.	ENSP00000238112	.	18/18	.	.	.	.	.	.	.	.	rs775413626	18/18	PASS	ENST00000238112	Transcript	.	.	ENSG00000119203	2326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.85)	.	CPSF3_HUMAN	CPSF3	HGNC	G5E9W3_HUMAN,C9JZH6_HUMAN	.	UPI00001282F5	SNV	CPSF3,missense_variant,p.Glu641Lys,ENST00000460593,;CPSF3,missense_variant,p.Glu678Lys,ENST00000238112,;IAH1,upstream_gene_variant,,ENST00000496603,;IAH1,upstream_gene_variant,,ENST00000481367,;IAH1,upstream_gene_variant,,ENST00000481688,;IAH1,upstream_gene_variant,,ENST00000545602,;IAH1,upstream_gene_variant,,ENST00000470914,;IAH1,upstream_gene_variant,,ENST00000497473,;IAH1,upstream_gene_variant,,ENST00000482918,;IAH1,upstream_gene_variant,,ENST00000495797,;CPSF3,non_coding_transcript_exon_variant,,ENST00000489403,;IAH1,upstream_gene_variant,,ENST00000495494,;IAH1,upstream_gene_variant,,ENST00000489468,;IAH1,upstream_gene_variant,,ENST00000351760,;IAH1,upstream_gene_variant,,ENST00000492223,;IAH1,upstream_gene_variant,,ENST00000495050,;	2238	57	92	SUCCESS
MGLL	11343	.	GRCh37	3	127540605	127540605	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	47	73	0	ENST00000398104.1:c.57C>A	p.Leu19=	p.L19=	ENST00000398104	NM_001003794.2	19	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46902.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGAGGTC	NONE	.	.	hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	2/8	.	.	.	.	.	.	.	.	COSM1616854	2/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,synonymous_variant,p.%3D,ENST00000265052,;MGLL,synonymous_variant,p.%3D,ENST00000494830,;MGLL,synonymous_variant,p.%3D,ENST00000453507,;MGLL,synonymous_variant,p.%3D,ENST00000398104,;MGLL,synonymous_variant,p.%3D,ENST00000434178,;MGLL,non_coding_transcript_exon_variant,,ENST00000479967,;	627	73	117	SUCCESS
SLC25A36	55186	.	GRCh37	3	140660913	140660913	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757985146	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	80	115	0	ENST00000324194.6:c.17C>T	p.Thr6Met	p.T6M	ENST00000324194		6	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS46927.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACACGCTGG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF180,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000320688	.	1/7	.	.	.	.	.	.	.	.	rs757985146	1/7	PASS	ENST00000324194	Transcript	.	.	ENSG00000114120	25554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.01)	.	S2536_HUMAN	SLC25A36	HGNC	.	.	UPI000006D558	SNV	SLC25A36,missense_variant,p.Thr6Met,ENST00000507429,;SLC25A36,missense_variant,p.Thr6Met,ENST00000453248,;SLC25A36,missense_variant,p.Thr6Met,ENST00000446041,;SLC25A36,missense_variant,p.Thr6Met,ENST00000324194,;SLC25A36,upstream_gene_variant,,ENST00000513887,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000393015,;SLC25A36,missense_variant,p.Thr6Met,ENST00000502594,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000515813,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000502756,;	185	115	161	SUCCESS
FXR1	8087	.	GRCh37	3	180630481	180630481	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	63	97	1	ENST00000357559.4:c.8A>T	p.Glu3Val	p.E3V	ENST00000357559	NM_001013438.2	3	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS3238.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGAGCTGA	NONE	.	.	hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6	.	.	ENSP00000350170	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000357559	Transcript	.	.	ENSG00000114416	4023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	deleterious(0)	.	FXR1_HUMAN	FXR1	HGNC	C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN	.	UPI000013EA6E	SNV	FXR1,missense_variant,p.Glu3Val,ENST00000491674,;FXR1,missense_variant,p.Glu3Val,ENST00000357559,;FXR1,missense_variant,p.Glu3Val,ENST00000491062,;FXR1,missense_variant,p.Glu3Val,ENST00000445140,;FXR1,5_prime_UTR_variant,,ENST00000484958,;FXR1,5_prime_UTR_variant,,ENST00000305586,;FXR1,5_prime_UTR_variant,,ENST00000468861,;FXR1,intron_variant,,ENST00000484790,;FXR1,intron_variant,,ENST00000465551,;FXR1,intron_variant,,ENST00000469882,;FXR1,upstream_gene_variant,,ENST00000484042,;FXR1,upstream_gene_variant,,ENST00000480918,;FXR1,non_coding_transcript_exon_variant,,ENST00000479176,;FXR1,non_coding_transcript_exon_variant,,ENST00000475315,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;	392	99	172	SUCCESS
DGKG	1608	.	GRCh37	3	186038405	186038405	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	13	0	ENST00000265022.3:c.-157G>A		p.*53*	ENST00000265022	NM_001080744.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3274.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCACCTC	NONE	.	.	.	.	.	ENSP00000265022	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000265022	Transcript	.	.	ENSG00000058866	2853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,5_prime_UTR_variant,,ENST00000544847,;DGKG,5_prime_UTR_variant,,ENST00000382164,;DGKG,5_prime_UTR_variant,,ENST00000265022,;DGKG,5_prime_UTR_variant,,ENST00000344484,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,upstream_gene_variant,,ENST00000466466,;	384	13	23	SUCCESS
RRP9	9136	.	GRCh37	3	51970364	51970364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs753881654	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	60	100	0	ENST00000232888.6:c.644C>G	p.Ala215Gly	p.A215G	ENST00000232888	NM_004704.4	215	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS2837.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGCCTGC	NONE	byFrequency	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19865,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000232888	.	8/15	.	.	.	.	.	.	.	.	rs753881654	8/15	PASS	ENST00000232888	Transcript	.	.	ENSG00000114767	16829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	U3IP2_HUMAN	RRP9	HGNC	.	.	UPI000006F889	SNV	RRP9,missense_variant,p.Ala215Gly,ENST00000232888,;	718	100	143	SUCCESS
UBE2D3	7323	.	GRCh37	4	103730836	103730837	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	556	203	449	0	ENST00000321805.7:c.112dup	p.Met38AsnfsTer4	p.M38Nfs*4	ENST00000321805	NM_181887.2	38	atg/aAtg	0	.	.	.	.	.	T	M/NX	protein_coding	YES	CCDS3659.1	118-119	VARSCANI*|PINDEL	.	GTCCCATAATT	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF48,hmmpanther:PTHR24068,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000349722	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000357194	Transcript	.	.	ENSG00000109332	12476	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UB2D3_HUMAN	UBE2D3	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN	.	UPI00001B31EA	insertion	UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000508238,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000453744,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000502690,;UBE2D3,frameshift_variant,p.Met9AsnfsTer4,ENST00000502404,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000321805,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000349311,;UBE2D3,frameshift_variant,p.Met9AsnfsTer4,ENST00000505207,;UBE2D3,frameshift_variant,p.Met40AsnfsTer4,ENST00000357194,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000343106,;UBE2D3,frameshift_variant,p.Met9AsnfsTer4,ENST00000508476,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000338145,;UBE2D3,frameshift_variant,p.Met32AsnfsTer4,ENST00000350435,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000394804,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000394801,;UBE2D3,frameshift_variant,p.Met9AsnfsTer4,ENST00000504211,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000394803,;UBE2D3,frameshift_variant,p.Met9AsnfsTer4,ENST00000507845,;UBE2D3,frameshift_variant,p.Met38AsnfsTer4,ENST00000508249,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000513098,;UBE2D3,frameshift_variant,p.Met38AsnfsTer11,ENST00000505307,;UBE2D3,frameshift_variant,p.Met38AsnfsTer11,ENST00000503418,;UBE2D3,frameshift_variant,p.Met9AsnfsTer11,ENST00000508635,;UBE2D3,frameshift_variant,p.Met38AsnfsTer13,ENST00000508974,;UBE2D3,frameshift_variant,p.Met38AsnfsTer11,ENST00000514755,;UBE2D3,3_prime_UTR_variant,,ENST00000502563,;UBE2D3,3_prime_UTR_variant,,ENST00000510129,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508474,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503742,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000510599,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508818,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503282,;	270-271	449	759	SUCCESS
SYNPO2	171024	.	GRCh37	4	119951193	119951193	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	239	105	188	0	ENST00000429713.2:c.1264del	p.Asp422ThrfsTer14	p.D422Tfs*14	ENST00000429713	NM_001128933.1	421	gcG/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS34054.1	1263	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGGCGGACGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	deletion	SYNPO2,frameshift_variant,p.Asp422ThrfsTer14,ENST00000434046,;SYNPO2,frameshift_variant,p.Asp422ThrfsTer14,ENST00000307142,;SYNPO2,frameshift_variant,p.Asp422ThrfsTer14,ENST00000429713,;SYNPO2,frameshift_variant,p.Asp374ThrfsTer14,ENST00000504178,;SYNPO2,intron_variant,,ENST00000448416,;	1459	188	344	SUCCESS
GLRA3	8001	.	GRCh37	4	175636670	175636670	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	297	213	355	1	ENST00000274093.3:c.543T>C	p.Asp181=	p.D181=	ENST00000274093	NM_006529.2	181	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3822.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACATCCAT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF455,PROSITE_patterns:PS00236,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000274093	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000274093	Transcript	.	.	ENSG00000145451	4328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLRA3_HUMAN	GLRA3	HGNC	Q9UPF3_HUMAN,Q4W595_HUMAN	.	UPI0000001C50	SNV	GLRA3,synonymous_variant,p.%3D,ENST00000274093,;GLRA3,synonymous_variant,p.%3D,ENST00000340217,;GLRA3,upstream_gene_variant,,ENST00000483010,;	1046	356	511	SUCCESS
SLIT2	9353	.	GRCh37	4	20535222	20535222	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	338	259	547	0	ENST00000504154.1:c.1716T>C	p.Asp572=	p.D572=	ENST00000504154	NM_004787.1	572	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3426.1	1716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGATATTGA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	18/37	.	.	.	.	.	.	.	.	.	18/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,synonymous_variant,p.%3D,ENST00000273739,;SLIT2,synonymous_variant,p.%3D,ENST00000504154,;SLIT2,synonymous_variant,p.%3D,ENST00000503823,;SLIT2,synonymous_variant,p.%3D,ENST00000503837,;SLIT2,non_coding_transcript_exon_variant,,ENST00000509099,;	1968	547	598	SUCCESS
EVC2	132884	.	GRCh37	4	5624510	5624510	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139717271	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	57	111	0	ENST00000344408.5:c.2255G>A	p.Arg752Gln	p.R752Q	ENST00000344408	NM_147127.4	752	cGg/cAg	0	T:0.0005	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3382.2	2255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCCGCAGC	NONE	byCluster	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	T:0	ENSP00000342144	.	14/22	.	.	.	.	.	.	.	.	rs139717271,COSM1291930,COSM4125207	14/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.93)	.	tolerated(0.05)	0,1,1	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Arg752Gln,ENST00000344938,;EVC2,missense_variant,p.Arg672Gln,ENST00000310917,;EVC2,missense_variant,p.Arg752Gln,ENST00000344408,;EVC2,missense_variant,p.Arg672Gln,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	2309	111	135	SUCCESS
ALB	213	.	GRCh37	4	74284021	74284024	+	frameshift_variant	Frame_Shift_Del	DEL	AAAC	AAAC	-	.	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	AAAC	AAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	34	0	ENST00000295897.4:c.1649_1652del	p.Gln550LeufsTer7	p.Q550Lfs*7	ENST00000295897	NM_000477.5	549	AAACaa/aa	0	.	.	.	.	.	-	KQ/X	protein_coding	YES	CCDS3555.1	1645-1648	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCAAGAAACAAACG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	12/15	.	.	.	.	.	.	.	.	COSM1619060	12/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	4	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Gln550LeufsTer7,ENST00000509063,;ALB,frameshift_variant,p.Gln395LeufsTer7,ENST00000511370,;ALB,frameshift_variant,p.Gln358LeufsTer7,ENST00000415165,;ALB,frameshift_variant,p.Gln550LeufsTer7,ENST00000295897,;ALB,frameshift_variant,p.Gln400LeufsTer7,ENST00000503124,;ALB,frameshift_variant,p.Gln435LeufsTer7,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1734-1737	34	37	SUCCESS
WDFY3	23001	.	GRCh37	4	85758098	85758098	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	273	161	321	1	ENST00000295888.4:c.560A>T	p.Gln187Leu	p.Q187L	ENST00000295888	NM_014991.4	187	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3609.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTGGAGT	NONE	.	.	hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	7/68	.	.	.	.	.	.	.	.	.	7/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious(0)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Gln187Leu,ENST00000295888,;WDFY3,missense_variant,p.Gln187Leu,ENST00000322366,;WDFY3,downstream_gene_variant,,ENST00000514071,;WDFY3,non_coding_transcript_exon_variant,,ENST00000426414,;	968	322	434	SUCCESS
WDR36	134430	.	GRCh37	5	110445911	110445911	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	88	0	ENST00000506538.2:c.1520del	p.Asn507ThrfsTer4	p.N507Tfs*4	ENST00000506538	NM_139281.2	506	ggA/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS4102.1	1518	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTGGAAACTT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Gene3D:2.130.10.10	.	.	ENSP00000423067	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	deletion	WDR36,frameshift_variant,p.Asn507ThrfsTer4,ENST00000513710,;WDR36,frameshift_variant,p.Asn507ThrfsTer4,ENST00000506538,;WDR36,frameshift_variant,p.Asn451ThrfsTer4,ENST00000505303,;	2091	88	135	SUCCESS
SLC6A19	340024	.	GRCh37	5	1219158	1219158	+	synonymous_variant	Silent	SNP	C	C	T	rs141604151	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	35	58	0	ENST00000304460.10:c.1314C>T	p.Gly438=	p.G438=	ENST00000304460	NM_001003841.2	438	ggC/ggT	0	T:0	.	.	.	.	T	G	protein_coding	YES	CCDS34130.1	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCGTCGT	NONE	byCluster	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687	.	T:0.0002	ENSP00000305302	.	9/12	.	.	.	.	.	.	.	.	rs141604151	9/12	PASS	ENST00000304460	Transcript	1	.	ENSG00000174358	27960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A19_HUMAN	SLC6A19	HGNC	B3KVZ8_HUMAN	.	UPI0000401AF8	SNV	SLC6A19,synonymous_variant,p.%3D,ENST00000304460,;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;	1370	58	126	SUCCESS
RBM22	55696	.	GRCh37	5	150071321	150071321	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	54	0	ENST00000199814.4:c.1255A>C	p.Ser419Arg	p.S419R	ENST00000199814	NM_018047.2	419	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS34278.1	1255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGCTGT	NONE	.	.	.	.	.	ENSP00000199814	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000199814	Transcript	.	.	ENSG00000086589	25503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated_low_confidence(0.27)	.	RBM22_HUMAN	RBM22	HGNC	.	.	UPI00000223D3	SNV	RBM22,missense_variant,p.Ser370Arg,ENST00000540000,;RBM22,missense_variant,p.Ser419Arg,ENST00000199814,;RBM22,missense_variant,p.Ser370Arg,ENST00000447771,;RBM22,downstream_gene_variant,,ENST00000518917,;RBM22,non_coding_transcript_exon_variant,,ENST00000520132,;RBM22,downstream_gene_variant,,ENST00000522469,;RBM22,downstream_gene_variant,,ENST00000521248,;RBM22,downstream_gene_variant,,ENST00000521594,;	1377	54	76	SUCCESS
GABRA6	2559	.	GRCh37	5	161112894	161112894	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	32	0	ENST00000274545.5:c.-102T>C		p.*34*	ENST00000274545				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4356.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATGAAGG	NONE	.	.	.	.	.	ENSP00000274545	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,5_prime_UTR_variant,,ENST00000523217,;GABRA6,5_prime_UTR_variant,,ENST00000274545,;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000517823,;GABRA6,upstream_gene_variant,,ENST00000523691,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000518888,;GABRA6,intron_variant,,ENST00000522269,;GABRA6,upstream_gene_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	332	32	51	SUCCESS
BOD1	91272	.	GRCh37	5	173036375	173036375	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	41	60	0	ENST00000311086.4:c.425A>G	p.Asn142Ser	p.N142S	ENST00000311086	NM_138369.2	142	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS4389.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTTAAGT	NONE	.	.	hmmpanther:PTHR31532,Pfam_domain:PF05205	.	.	ENSP00000309644	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000311086	Transcript	.	.	ENSG00000145919	25114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	tolerated(0.13)	.	BOD1_HUMAN	BOD1	HGNC	C9J8U9_HUMAN	.	UPI00001A92E5	SNV	BOD1,missense_variant,p.Asn37Ser,ENST00000462674,;BOD1,missense_variant,p.Asn142Ser,ENST00000311086,;BOD1,missense_variant,p.Asn75Ser,ENST00000477985,;BOD1,intron_variant,,ENST00000285908,;BOD1,intron_variant,,ENST00000480951,;BOD1,downstream_gene_variant,,ENST00000471339,;BOD1,non_coding_transcript_exon_variant,,ENST00000518658,;	649	60	102	SUCCESS
C5orf42	0	.	GRCh37	5	37170312	37170312	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	62	97	0	ENST00000425232.2:c.6293C>G	p.Ser2098Ter	p.S2098*	ENST00000425232	NM_023073.3	2098	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS34146.2	6293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTGATTCT	NONE	.	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	.	ENSP00000389014	.	33/52	.	.	.	.	.	.	.	.	.	33/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,stop_gained,p.Ser978Ter,ENST00000274258,;C5orf42,stop_gained,p.Ser2098Ter,ENST00000508244,;C5orf42,stop_gained,p.Ser2098Ter,ENST00000425232,;C5orf42,stop_gained,p.Ser1146Ter,ENST00000514429,;C5orf42,upstream_gene_variant,,ENST00000511824,;C5orf42,stop_gained,p.Ser1102Ter,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000511781,;	6524	97	143	SUCCESS
PRDM13	59336	.	GRCh37	6	100061789	100061789	+	synonymous_variant	Silent	SNP	G	G	T	rs770219686	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	33	0	ENST00000369215.4:c.1278G>T	p.Ala426=	p.A426=	ENST00000369215	NM_021620.3	426	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43487.1	1278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGCCGGG	NONE	.	.	hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228	.	.	ENSP00000358217	.	4/4	.	.	.	.	.	.	.	.	rs770219686	4/4	PASS	ENST00000369215	Transcript	.	.	ENSG00000112238	13998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD13_HUMAN	PRDM13	HGNC	Q7Z5E7_HUMAN	.	UPI000047099D	SNV	PRDM13,synonymous_variant,p.%3D,ENST00000369215,;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	1583	33	52	SUCCESS
NR2E1	7101	.	GRCh37	6	108502144	108502144	+	synonymous_variant	Silent	SNP	C	C	A	rs368041869	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	66	106	0	ENST00000368986.4:c.873C>A	p.Ile291=	p.I291=	ENST00000368986	NM_003269.3	291	atC/atA	0	T:0	.	.	.	.	A	I	protein_coding	YES	CCDS5063.1	873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCGTCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF79,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398	.	T:0.0001	ENSP00000357982	.	7/9	.	.	.	.	.	.	.	.	rs368041869,COSM1071883	7/9	PASS	ENST00000368986	Transcript	.	.	ENSG00000112333	7973	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NR2E1_HUMAN	NR2E1	HGNC	B6ZGT9_HUMAN,A6PVF6_HUMAN	.	UPI0000130478	SNV	NR2E1,synonymous_variant,p.%3D,ENST00000368986,;NR2E1,synonymous_variant,p.%3D,ENST00000368983,;NR2E1,downstream_gene_variant,,ENST00000426403,;NR2E1,downstream_gene_variant,,ENST00000484978,;	1581	106	148	SUCCESS
COL10A1	1300	.	GRCh37	6	116442516	116442516	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	53	0	ENST00000243222.4:c.763C>A	p.Pro255Thr	p.P255T	ENST00000243222	NM_000493.3	255	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS5105.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGAGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF74	.	.	ENSP00000327368	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327673	Transcript	.	.	ENSG00000123500	2185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	COAA1_HUMAN	COL10A1	HGNC	Q5QPC8_HUMAN,Q5QPC7_HUMAN	.	UPI0000126D28	SNV	COL10A1,missense_variant,p.Pro255Thr,ENST00000327673,;AL121963.1,missense_variant,p.Gly57Val,ENST00000430695,;COL10A1,missense_variant,p.Pro255Thr,ENST00000243222,;NT5DC1,intron_variant,,ENST00000319550,;NT5DC1,intron_variant,,ENST00000419791,;NT5DC1,downstream_gene_variant,,ENST00000417846,;COL10A1,downstream_gene_variant,,ENST00000452729,;COL10A1,downstream_gene_variant,,ENST00000418500,;NT5DC1,intron_variant,,ENST00000460749,;	1171	53	84	SUCCESS
PACRG	135138	.	GRCh37	6	163735872	163735872	+	synonymous_variant	Silent	SNP	C	C	T	rs374673683	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	100	156	2	ENST00000337019.3:c.744C>T	p.Asp248=	p.D248=	ENST00000337019	NM_152410.2	248	gaC/gaT	0	T:0.0002	.	.	.	.	T	D	protein_coding	YES	CCDS5284.1	744	RADIA|SOMATICSNIPER|VARSCANS	.	GGAGACGGCAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21207,Pfam_domain:PF10274	.	T:0	ENSP00000337946	.	7/7	.	.	.	.	.	.	.	.	rs374673683	7/7	PASS	ENST00000337019	Transcript	.	.	ENSG00000112530	19152	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PACRG_HUMAN	PACRG	HGNC	.	.	UPI00001AE671	SNV	PACRG,synonymous_variant,p.%3D,ENST00000366888,;PACRG,synonymous_variant,p.%3D,ENST00000337019,;PACRG,synonymous_variant,p.%3D,ENST00000366889,;PACRG,3_prime_UTR_variant,,ENST00000541974,;	968	158	211	SUCCESS
HIST1H4C	0	.	GRCh37	6	26104293	26104293	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	6	90	0	ENST00000377803.2:c.118C>G	p.Arg40Gly	p.R40G	ENST00000377803	NM_003542.3	40	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS4583.1	118	MUTECT|MUSE	.	TGGCTCGGCGC	NONE	.	.	hmmpanther:PTHR10484,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00417,SMART_domains:SM00803,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000367034	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377803	Transcript	.	.	ENSG00000197061	4787	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	H4_HUMAN	HIST1H4C	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4C,missense_variant,p.Arg40Gly,ENST00000377803,;HIST1H1T,downstream_gene_variant,,ENST00000338379,;	190	90	133	SUCCESS
ZNF192P1	651302	.	GRCh37	6	28134403	28134403	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	63	114	0	ENST00000440790.2:n.506A>G		p.*169*	ENST00000440790				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAAAAGTC	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000440790	Transcript	.	.	ENSG00000226314	18777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF192P1	HGNC	.	.	.	SNV	ZNF192P1,non_coding_transcript_exon_variant,,ENST00000562227,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000440790,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000570042,;ZNF192P1,downstream_gene_variant,,ENST00000570126,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000565888,;	506	114	153	SUCCESS
BTBD9	114781	.	GRCh37	6	38256068	38256068	+	synonymous_variant	Silent	SNP	C	C	T	rs181693343	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	103	0	ENST00000481247.1:c.1434G>A	p.Pro478=	p.P478=	ENST00000481247	NM_052893.1	478	ccG/ccA	0	.	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS47418.1	1434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTACGGTTG	NONE	byCluster|by1000G	.	Gene3D:2.60.120.260,Pfam_domain:PF00754,Superfamily_domains:SSF49785	T:0	.	ENSP00000418751	T:0	8/11	.	.	.	.	.	.	.	.	rs181693343,COSM3411046,COSM3411045	8/11	PASS	ENST00000481247	Transcript	.	T:0.0002	ENSG00000183826	21228	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0	.	0,1,1	BTBD9_HUMAN	BTBD9	HGNC	Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN	.	UPI00001C040E	SNV	BTBD9,synonymous_variant,p.%3D,ENST00000419706,;BTBD9,synonymous_variant,p.%3D,ENST00000314100,;BTBD9,synonymous_variant,p.%3D,ENST00000481247,;BTBD9,synonymous_variant,p.%3D,ENST00000408958,;BTBD9,synonymous_variant,p.%3D,ENST00000403056,;BTBD9,3_prime_UTR_variant,,ENST00000328403,;	1586	103	90	SUCCESS
GTF2I	2969	.	GRCh37	7	74114719	74114719	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	109	157	0	ENST00000324896.4:c.516G>T	p.Trp172Cys	p.W172C	ENST00000324896	NM_032999.3	172	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS5573.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGATTTT	NONE	.	.	PROSITE_profiles:PS51139,hmmpanther:PTHR11697:SF94,hmmpanther:PTHR11697,Pfam_domain:PF02946,Gene3D:1q60A00,PIRSF_domain:PIRSF016441,Superfamily_domains:0048894	.	.	ENSP00000322542	.	5/35	.	.	.	.	.	.	.	.	.	5/35	PASS	ENST00000324896	Transcript	.	.	ENSG00000077809	4659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	GTF2I_HUMAN	GTF2I	HGNC	C9J6M0_HUMAN,B4DRA9_HUMAN,B4DM07_HUMAN,B4DH52_HUMAN	.	UPI0000001233	SNV	GTF2I,missense_variant,p.Trp172Cys,ENST00000443166,;GTF2I,missense_variant,p.Trp172Cys,ENST00000324896,;GTF2I,missense_variant,p.Trp172Cys,ENST00000353920,;GTF2I,missense_variant,p.Trp172Cys,ENST00000346152,;GTF2I,missense_variant,p.Trp172Cys,ENST00000416070,;GTF2I,downstream_gene_variant,,ENST00000432143,;AC083884.8,intron_variant,,ENST00000434256,;AC083884.8,intron_variant,,ENST00000594967,;AC083884.8,intron_variant,,ENST00000450426,;AC083884.8,intron_variant,,ENST00000601921,;GTF2I,upstream_gene_variant,,ENST00000490431,;STAG3L2,intron_variant,,ENST00000380775,;	905	158	236	SUCCESS
COL28A1	340267	.	GRCh37	7	7421217	7421217	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	114	0	ENST00000399429.3:c.2163A>T	p.Pro721=	p.P721=	ENST00000399429	NM_001037763.2	721	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43553.1	2163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGGGAA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375	.	.	ENSP00000382356	.	28/35	.	.	.	.	.	.	.	.	.	28/35	PASS	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,synonymous_variant,p.%3D,ENST00000399429,;	2304	114	125	SUCCESS
FAM135B	51059	.	GRCh37	8	139263216	139263216	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779793997	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	94	0	ENST00000395297.1:c.410C>A	p.Thr137Lys	p.T137K	ENST00000395297	NM_015912.3	137	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS6375.2	410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCGTTCGG	NONE	byFrequency	.	Pfam_domain:PF12394,hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482	.	.	ENSP00000378710	.	6/20	.	.	.	.	.	.	.	.	rs779793997,COSM1455081,COSM1455080	6/20	PASS	ENST00000395297	Transcript	.	.	ENSG00000147724	28029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.137)	.	deleterious(0)	0,1,1	F135B_HUMAN	FAM135B	HGNC	J3QSR3_HUMAN	.	UPI000057A0DB	SNV	FAM135B,missense_variant,p.Thr137Lys,ENST00000160713,;FAM135B,missense_variant,p.Thr137Lys,ENST00000395297,;FAM135B,missense_variant,p.Thr137Lys,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	581	94	119	SUCCESS
TUSC3	7991	.	GRCh37	8	15480625	15480625	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	43	76	0	ENST00000503731.1:c.175T>C	p.Trp59Arg	p.W59R	ENST00000503731	NM_006765.3	59	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS5994.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATGGAGT	NONE	.	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692	.	.	ENSP00000424544	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	deleterious(0)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Trp59Arg,ENST00000382020,;TUSC3,missense_variant,p.Trp13Arg,ENST00000511783,;TUSC3,missense_variant,p.Trp59Arg,ENST00000506802,;TUSC3,missense_variant,p.Trp59Arg,ENST00000509380,;TUSC3,missense_variant,p.Trp59Arg,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,missense_variant,p.Trp59Arg,ENST00000515859,;TUSC3,missense_variant,p.Trp59Arg,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000509177,;	323	76	59	SUCCESS
RAD23B	5887	.	GRCh37	9	110091936	110091936	+	stop_lost	Nonstop_Mutation	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	40	0	ENST00000358015.3:c.1229G>T	p.Ter410LeuextTer62	p.*410Lext*62	ENST00000358015	NM_002874.4	410	tGa/tTa	0	.	.	.	.	.	T	*/L	protein_coding	YES	CCDS6769.1	1229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGAAAGG	NONE	.	.	.	.	.	ENSP00000350708	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000358015	Transcript	.	.	ENSG00000119318	9813	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RD23B_HUMAN	RAD23B	HGNC	Q5W0S5_HUMAN	.	UPI0000132F6C	SNV	RAD23B,stop_lost,p.Ter410LeuextTer62,ENST00000358015,;RAD23B,stop_lost,p.Ter338LeuextTer62,ENST00000416373,;RAD23B,intron_variant,,ENST00000457811,;	1580	40	47	SUCCESS
RMI1	80010	.	GRCh37	9	86616608	86616608	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs748056823	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	60	90	0	ENST00000325875.3:c.707T>G	p.Leu236Arg	p.L236R	ENST00000325875	NM_024945.2	236	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS6669.1	707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTAGATC	NONE	.	.	hmmpanther:PTHR14790:SF15,hmmpanther:PTHR14790	.	.	ENSP00000317039	.	3/3	.	.	.	.	.	.	.	.	rs748056823	3/3	PASS	ENST00000325875	Transcript	.	.	ENSG00000178966	25764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	deleterious(0)	.	RMI1_HUMAN	RMI1	HGNC	.	.	UPI000014178F	SNV	RMI1,missense_variant,p.Leu236Arg,ENST00000445877,;RMI1,missense_variant,p.Leu236Arg,ENST00000325875,;	1039	90	128	SUCCESS
MAOB	4129	.	GRCh37	X	43698229	43698229	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	96	0	ENST00000378069.4:c.164A>T	p.Asp55Val	p.D55V	ENST00000378069	NM_000898.4	55	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS14261.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTCCACA	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000367309	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,missense_variant,p.Asp39Val,ENST00000538942,;MAOB,missense_variant,p.Asp39Val,ENST00000536181,;MAOB,missense_variant,p.Asp55Val,ENST00000378069,;MAOB,non_coding_transcript_exon_variant,,ENST00000487544,;MAOB,downstream_gene_variant,,ENST00000468431,;	312	96	65	SUCCESS
WAPAL	0	.	GRCh37	10	88259978	88259978	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	44	64	0	ENST00000298767.5:c.1022G>A	p.Gly341Asp	p.G341D	ENST00000298767	NM_015045.2	341	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7375.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACACCCCCT	NONE	.	.	hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100	.	.	ENSP00000298767	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.17)	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,missense_variant,p.Gly341Asp,ENST00000298767,;	1495	64	67	SUCCESS
PTEN	5728	.	GRCh37	10	89720811	89720812	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs121913291	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	156	107	164	0	ENST00000371953.3:c.968dup	p.Asn323LysfsTer2	p.N323Kfs*2	ENST00000371953	NM_000314.4	321	aca/acAa	0	.	.	.	.	.	A	T/TX	protein_coding	YES	CCDS31238.1	962-963	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTAACAAAAA	CODON|p.0?|c.1_1212del1212|28,CODON|p.N323fs*2|c.962_963insA|3,CODON|p.T321fs*23|c.963delA|12,CODON|p.T321fs*3|c.963_964insA|8,BUFFER|p.T319fs*1|c.950_953delTACT|37,BUFFER|p.V317fs*3|c.951_954delACTT|4,BUFFER|p.L318fs*2|c.952_955delCTTA|11,BUFFER|p.L318fs*2|c.953_956delTTAC|4,BUFFER|p.L318P|c.953T>C|3,BUFFER|p.L318fs*2|c.954_957delTACT|11,BUFFER|p.T319fs*6|c.955_956insA|6,BUFFER|p.T319fs*24|c.956_959delCTTT|6,BUFFER|p.N323fs*21|c.968delA|30,BUFFER|p.N323fs*2|c.968_969insA|27	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	.	.	ENSP00000361021	.	8/9	.	.	.	.	.	.	.	.	COSM23626	8/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	insertion	PTEN,frameshift_variant,p.Asn323LysfsTer2,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	2319-2320	164	263	SUCCESS
FRA10AC1	118924	.	GRCh37	10	95441348	95441348	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	32	0	ENST00000359204.4:c.676G>T	p.Glu226Ter	p.E226*	ENST00000359204	NM_145246.4	226	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7430.1	676	RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCTTTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11567:SF25,hmmpanther:PTHR11567	.	.	ENSP00000360488	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000359204	Transcript	1	.	ENSG00000148690	1162	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F10C1_HUMAN	FRA10AC1	HGNC	.	.	UPI000006F7A9	SNV	FRA10AC1,stop_gained,p.Glu226Ter,ENST00000394100,;FRA10AC1,stop_gained,p.Glu226Ter,ENST00000371430,;FRA10AC1,stop_gained,p.Glu226Ter,ENST00000536233,;FRA10AC1,stop_gained,p.Glu226Ter,ENST00000359204,;FRA10AC1,downstream_gene_variant,,ENST00000482719,;FRA10AC1,downstream_gene_variant,,ENST00000472153,;	874	32	33	SUCCESS
ADAMTS15	170689	.	GRCh37	11	130343256	130343256	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	68	112	0	ENST00000299164.2:c.2393T>G	p.Phe798Cys	p.F798C	ENST00000299164	NM_139055.2	798	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS8488.1	2393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTCTATC	NONE	.	.	hmmpanther:PTHR13723:SF39,hmmpanther:PTHR13723,Pfam_domain:PF05986,Prints_domain:PR01861	.	.	ENSP00000299164	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000299164	Transcript	.	.	ENSG00000166106	16305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ATS15_HUMAN	ADAMTS15	HGNC	.	.	UPI000004F277	SNV	ADAMTS15,missense_variant,p.Phe798Cys,ENST00000299164,;	2393	112	133	SUCCESS
ACAD8	27034	.	GRCh37	11	134123493	134123493	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs750562731	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	19	0	ENST00000281182.4:c.-2C>T		p.*1*	ENST00000281182	NM_014384.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8498.1	.	MUTECT|MUSE	.	GGCGGCTATGC	NONE	.	.	.	.	.	ENSP00000281182	.	1/11	.	.	.	.	.	.	.	.	rs750562731	1/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,5_prime_UTR_variant,,ENST00000543332,;ACAD8,5_prime_UTR_variant,,ENST00000281182,;ACAD8,5_prime_UTR_variant,,ENST00000374752,;ACAD8,5_prime_UTR_variant,,ENST00000537423,;THYN1,upstream_gene_variant,,ENST00000352327,;THYN1,upstream_gene_variant,,ENST00000341541,;THYN1,upstream_gene_variant,,ENST00000392594,;THYN1,upstream_gene_variant,,ENST00000392595,;THYN1,upstream_gene_variant,,ENST00000525677,;ACAD8,upstream_gene_variant,,ENST00000524547,;ACAD8,5_prime_UTR_variant,,ENST00000524426,;ACAD8,5_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527082,;ACAD8,non_coding_transcript_exon_variant,,ENST00000534433,;ACAD8,non_coding_transcript_exon_variant,,ENST00000530533,;ACAD8,non_coding_transcript_exon_variant,,ENST00000534240,;ACAD8,non_coding_transcript_exon_variant,,ENST00000525961,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,upstream_gene_variant,,ENST00000531338,;ACAD8,upstream_gene_variant,,ENST00000528325,;ACAD8,upstream_gene_variant,,ENST00000527665,;THYN1,upstream_gene_variant,,ENST00000531135,;THYN1,upstream_gene_variant,,ENST00000533975,;THYN1,upstream_gene_variant,,ENST00000533781,;	105	19	22	SUCCESS
ABCC8	6833	.	GRCh37	11	17418492	17418492	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs138642224	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	68	118	0	ENST00000389817.3:c.4090G>T	p.Val1364Phe	p.V1364F	ENST00000389817		1364	Gtc/Ttc	0	T:0.002	T:0.0015	.	T:0	.	A	V/F	protein_coding	YES	CCDS31437.1	4090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGACGTGCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Pfam_domain:PF00005,Superfamily_domains:SSF52540	T:0	T:0.0001	ENSP00000374467	T:0	33/39	.	.	.	.	.	.	.	.	rs138642224	33/39	PASS	ENST00000389817	Transcript	.	T:0.0004	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	T:0	deleterious(0)	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Val1364Phe,ENST00000389817,;ABCC8,missense_variant,p.Val192Phe,ENST00000528374,;ABCC8,missense_variant,p.Val1365Phe,ENST00000302539,;ABCC8,3_prime_UTR_variant,,ENST00000527905,;ABCC8,3_prime_UTR_variant,,ENST00000531891,;ABCC8,non_coding_transcript_exon_variant,,ENST00000531137,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532220,;ABCC8,upstream_gene_variant,,ENST00000526037,;ABCC8,upstream_gene_variant,,ENST00000525022,;ABCC8,upstream_gene_variant,,ENST00000531642,;ABCC8,upstream_gene_variant,,ENST00000526168,;	4159	118	170	SUCCESS
AGBL2	79841	.	GRCh37	11	47712149	47712149	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	88	134	0	ENST00000525123.1:c.1110G>A	p.Gly370=	p.G370=	ENST00000525123	NM_024783.3	370	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7944.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCCATC	NONE	.	.	hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF7	.	.	ENSP00000435582	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000525123	Transcript	.	.	ENSG00000165923	26296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC2_HUMAN	AGBL2	HGNC	E9PJH3_HUMAN,E9PI49_HUMAN	.	UPI00001A95E3	SNV	AGBL2,synonymous_variant,p.%3D,ENST00000528244,;AGBL2,synonymous_variant,p.%3D,ENST00000532595,;AGBL2,synonymous_variant,p.%3D,ENST00000357610,;AGBL2,synonymous_variant,p.%3D,ENST00000298861,;AGBL2,synonymous_variant,p.%3D,ENST00000525123,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,downstream_gene_variant,,ENST00000526331,;AGBL2,upstream_gene_variant,,ENST00000528609,;	1396	134	196	SUCCESS
C11orf35	0	.	GRCh37	11	556881	556881	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	24	0	ENST00000329451.3:c.930del	p.Glu311SerfsTer52	p.E311Sfs*52	ENST00000329451	NM_173573.2	310	tcC/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS7701.1	930	INDELOCATOR|VARSCANI	.	TTGCTCGGAGGA	NONE	.	.	hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5	.	.	ENSP00000331167	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000329451	Transcript	.	.	ENSG00000185522	28561	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK035_HUMAN	C11orf35	HGNC	.	.	UPI0000456441	deletion	C11orf35,frameshift_variant,p.Glu311SerfsTer52,ENST00000329451,;RASSF7,upstream_gene_variant,,ENST00000431809,;RASSF7,upstream_gene_variant,,ENST00000397583,;RASSF7,upstream_gene_variant,,ENST00000397582,;C11orf35,downstream_gene_variant,,ENST00000486629,;RASSF7,upstream_gene_variant,,ENST00000454668,;C11orf35,downstream_gene_variant,,ENST00000441853,;RASSF7,upstream_gene_variant,,ENST00000344375,;RASSF7,upstream_gene_variant,,ENST00000528736,;LRRC56,downstream_gene_variant,,ENST00000270115,;RP11-496I9.1,upstream_gene_variant,,ENST00000527113,;RP11-496I9.1,upstream_gene_variant,,ENST00000533844,;RP11-496I9.1,upstream_gene_variant,,ENST00000527620,;RASSF7,upstream_gene_variant,,ENST00000524468,;C11orf35,upstream_gene_variant,,ENST00000469990,;C11orf35,downstream_gene_variant,,ENST00000492515,;RASSF7,upstream_gene_variant,,ENST00000414138,;	993	24	33	SUCCESS
APBB1	322	.	GRCh37	11	6422250	6422250	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	rs750854475	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	70	107	0	ENST00000609360.1:c.1641C>G	p.Tyr547Ter	p.Y547*	ENST00000609360	NM_001164.3	547	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS31410.1	1635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGTAATA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00462,Gene3D:2.30.29.30,Pfam_domain:PF00640,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF5,PROSITE_profiles:PS01179	.	.	ENSP00000299402	.	11/14	.	.	.	.	.	.	.	.	rs750854475	11/14	PASS	ENST00000299402	Transcript	.	.	ENSG00000166313	581	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBB1_HUMAN	APBB1	HGNC	.	.	UPI0000070BF7	SNV	APBB1,stop_gained,p.Tyr288Ter,ENST00000608704,;APBB1,stop_gained,p.Tyr288Ter,ENST00000608394,;APBB1,stop_gained,p.Tyr325Ter,ENST00000530885,;APBB1,stop_gained,p.Tyr545Ter,ENST00000299402,;APBB1,stop_gained,p.Tyr547Ter,ENST00000609360,;APBB1,stop_gained,p.Tyr547Ter,ENST00000389906,;APBB1,stop_gained,p.Tyr288Ter,ENST00000608645,;APBB1,stop_gained,p.Tyr312Ter,ENST00000609331,;APBB1,stop_gained,p.Tyr545Ter,ENST00000311051,;APBB1,stop_gained,p.Tyr327Ter,ENST00000608655,;APBB1,stop_gained,p.Tyr72Ter,ENST00000529519,;APBB1,downstream_gene_variant,,ENST00000532020,;APBB1,downstream_gene_variant,,ENST00000529890,;APBB1,upstream_gene_variant,,ENST00000526240,;APBB1,stop_gained,p.Tyr547Ter,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000524626,;APBB1,downstream_gene_variant,,ENST00000533139,;APBB1,downstream_gene_variant,,ENST00000533407,;APBB1,downstream_gene_variant,,ENST00000529778,;APBB1,downstream_gene_variant,,ENST00000534188,;APBB1,downstream_gene_variant,,ENST00000526925,;	1735	107	178	SUCCESS
NCOR2	9612	.	GRCh37	12	124915190	124915190	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776174602	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	36	54	0	ENST00000405201.1:c.1026G>T	p.Lys342Asn	p.K342N	ENST00000405201		342	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS41858.2	1026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGCTTGCG	NONE	byFrequency	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	9/47	.	.	.	.	.	.	.	.	rs776174602	9/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Lys342Asn,ENST00000356219,;NCOR2,missense_variant,p.Lys265Asn,ENST00000542927,;NCOR2,missense_variant,p.Lys342Asn,ENST00000458234,;NCOR2,missense_variant,p.Lys342Asn,ENST00000420698,;NCOR2,missense_variant,p.Lys244Asn,ENST00000448008,;NCOR2,missense_variant,p.Lys342Asn,ENST00000429285,;NCOR2,missense_variant,p.Lys342Asn,ENST00000405201,;NCOR2,missense_variant,p.Lys342Asn,ENST00000404621,;NCOR2,missense_variant,p.Lys342Asn,ENST00000397355,;NCOR2,5_prime_UTR_variant,,ENST00000404121,;NCOR2,upstream_gene_variant,,ENST00000494460,;	1027	54	72	SUCCESS
ATF7IP	55729	.	GRCh37	12	14650961	14650961	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	33	77	0	ENST00000261168.4:c.3767G>T	p.Cys1256Phe	p.C1256F	ENST00000261168	NM_018179.3	1256	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS8663.1	3767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGTGATC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000261168	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,missense_variant,p.Cys1256Phe,ENST00000261168,;ATF7IP,missense_variant,p.Cys1256Phe,ENST00000540793,;ATF7IP,missense_variant,p.Cys1264Phe,ENST00000544627,;ATF7IP,missense_variant,p.Cys1255Phe,ENST00000536444,;	3920	77	48	SUCCESS
CACNA1C	775	.	GRCh37	12	2558277	2558277	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	55	104	0	ENST00000347598.4:c.613G>T	p.Val205Leu	p.V205L	ENST00000347598	NM_199460.2	205	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS44788.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTGTGGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01630	.	.	ENSP00000266376	.	4/49	.	.	.	.	.	.	.	.	.	4/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.21)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Val205Leu,ENST00000399644,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399595,;CACNA1C,missense_variant,p.Val205Leu,ENST00000406454,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399617,;CACNA1C,missense_variant,p.Val205Leu,ENST00000347598,;CACNA1C,missense_variant,p.Val205Leu,ENST00000402845,;CACNA1C,missense_variant,p.Val205Leu,ENST00000327702,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399634,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399641,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399603,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399629,;CACNA1C,missense_variant,p.Val205Leu,ENST00000480911,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399601,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399597,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399655,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399606,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399637,;CACNA1C,missense_variant,p.Val205Leu,ENST00000335762,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399621,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399638,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399591,;CACNA1C,missense_variant,p.Val205Leu,ENST00000344100,;CACNA1C,missense_variant,p.Val205Leu,ENST00000399649,;	613	104	87	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50190101	50190101	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	44	76	0	ENST00000335999.6:c.1542G>C	p.Glu514Asp	p.E514D	ENST00000335999	NM_001037806.3	514	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS41781.2	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCTCTGG	NONE	.	.	hmmpanther:PTHR21740	.	.	ENSP00000337998	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.16)	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Glu514Asp,ENST00000335999,;NCKAP5L,missense_variant,p.Glu229Asp,ENST00000433948,;	1744	76	102	SUCCESS
FAIM2	23017	.	GRCh37	12	50291319	50291319	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	56	114	0	ENST00000320634.3:c.363G>A	p.Val121=	p.V121=	ENST00000320634	NM_012306.3	121	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8791.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCACGAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23291:SF18,hmmpanther:PTHR23291,Pfam_domain:PF01027	.	.	ENSP00000321951	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000320634	Transcript	.	.	ENSG00000135472	17067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LFG2_HUMAN	FAIM2	HGNC	F8VV65_HUMAN,B3KR08_HUMAN	.	UPI0000072B0C	SNV	FAIM2,synonymous_variant,p.%3D,ENST00000550635,;FAIM2,synonymous_variant,p.%3D,ENST00000550890,;FAIM2,synonymous_variant,p.%3D,ENST00000547871,;FAIM2,synonymous_variant,p.%3D,ENST00000552669,;FAIM2,synonymous_variant,p.%3D,ENST00000320634,;FAIM2,upstream_gene_variant,,ENST00000552863,;FAIM2,synonymous_variant,p.%3D,ENST00000550195,;	458	114	155	SUCCESS
CLYBL	171425	.	GRCh37	13	100515304	100515304	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	36	0	ENST00000339105.4:c.498A>C	p.Leu166Phe	p.L166F	ENST00000339105		166	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS32002.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTAATCCC	NONE	.	.	hmmpanther:PTHR11105:SF0,hmmpanther:PTHR11105,Gene3D:3.20.20.60,Pfam_domain:PF03328,PIRSF_domain:PIRSF015582,Superfamily_domains:SSF51621	.	.	ENSP00000365538	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000376360	Transcript	.	.	ENSG00000125246	18355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	tolerated(0.11)	.	CLYBL_HUMAN	CLYBL	HGNC	Q5JVC0_HUMAN	.	UPI0000071ADE	SNV	CLYBL,missense_variant,p.Leu83Phe,ENST00000416504,;CLYBL,missense_variant,p.Leu166Phe,ENST00000339105,;CLYBL,missense_variant,p.Leu166Phe,ENST00000376360,;CLYBL,intron_variant,,ENST00000376354,;CLYBL,intron_variant,,ENST00000444838,;CLYBL,intron_variant,,ENST00000376355,;CLYBL,intron_variant,,ENST00000443887,;CLYBL,upstream_gene_variant,,ENST00000419700,;	525	36	57	SUCCESS
CYSLTR2	57105	.	GRCh37	13	49281716	49281716	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1566110787	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	23	0	ENST00000282018.3:c.763A>G	p.Ile255Val	p.I255V	ENST00000282018	NM_020377.2	255	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9412.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCATCTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF10,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000282018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000282018	Transcript	.	.	ENSG00000152207	18274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.438)	.	tolerated(0.36)	.	CLTR2_HUMAN	CYSLTR2	HGNC	Q5KU17_HUMAN	.	UPI000003BCCC	SNV	CYSLTR2,missense_variant,p.Ile255Val,ENST00000282018,;	766	23	46	SUCCESS
PCK2	5106	.	GRCh37	14	24563627	24563627	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1287804185	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	17	0	ENST00000216780.4:c.13T>C	p.Tyr5His	p.Y5H	ENST00000216780	NM_004563.2	5	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS9609.1	13	RADIA|MUSE	.	CATTGTACCGC	NONE	.	.	PIRSF_domain:PIRSF001348	.	.	ENSP00000216780	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.969)	.	deleterious_low_confidence(0)	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,missense_variant,p.Tyr5His,ENST00000216780,;PCK2,missense_variant,p.Tyr5His,ENST00000396973,;PCK2,5_prime_UTR_variant,,ENST00000561286,;PCK2,5_prime_UTR_variant,,ENST00000545054,;PCK2,5_prime_UTR_variant,,ENST00000558096,;NRL,intron_variant,,ENST00000558280,;NRL,intron_variant,,ENST00000396997,;PCK2,intron_variant,,ENST00000559250,;NRL,intron_variant,,ENST00000561028,;PCK2,intron_variant,,ENST00000559837,;PCK2,intron_variant,,ENST00000560736,;PCK2,non_coding_transcript_exon_variant,,ENST00000560657,;PCK2,missense_variant,p.Tyr5His,ENST00000560106,;PCK2,missense_variant,p.Tyr5His,ENST00000559584,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,upstream_gene_variant,,ENST00000559503,;	281	17	23	SUCCESS
PRKCH	5583	.	GRCh37	14	61909960	61909960	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	60	73	0	ENST00000332981.5:c.559C>G	p.His187Asp	p.H187D	ENST00000332981	NM_006255.3	187	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS9752.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCACTGC	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR24357:SF51,hmmpanther:PTHR24357,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501107,SMART_domains:SM00109,Superfamily_domains:SSF57889,Prints_domain:PR00008	.	.	ENSP00000329127	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000332981	Transcript	.	.	ENSG00000027075	9403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	KPCL_HUMAN	PRKCH	HGNC	G3V5U5_HUMAN,G3V5F8_HUMAN,G3V520_HUMAN,G3V4X4_HUMAN,G3V4Q9_HUMAN,G3V4Q6_HUMAN,G3V4L3_HUMAN,G3V4H0_HUMAN,G3V3E7_HUMAN,G3V304_HUMAN,B4DV01_HUMAN,B4DJN5_HUMAN	.	UPI0000073BBF	SNV	PRKCH,missense_variant,p.His26Asp,ENST00000553265,;PRKCH,missense_variant,p.His187Asp,ENST00000332981,;PRKCH,missense_variant,p.His26Asp,ENST00000557473,;PRKCH,missense_variant,p.His26Asp,ENST00000553831,;PRKCH,missense_variant,p.His26Asp,ENST00000556778,;PRKCH,missense_variant,p.His26Asp,ENST00000556164,;PRKCH,missense_variant,p.His26Asp,ENST00000555082,;PRKCH,missense_variant,p.His129Asp,ENST00000553830,;PRKCH,missense_variant,p.His26Asp,ENST00000555906,;PRKCH,missense_variant,p.His26Asp,ENST00000557585,;PRKCH,intron_variant,,ENST00000553726,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,downstream_gene_variant,,ENST00000555542,;	944	73	115	SUCCESS
RYR3	6263	.	GRCh37	15	34109151	34109151	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	37	86	0	ENST00000389232.4:c.10591G>T	p.Asp3531Tyr	p.D3531Y	ENST00000389232	NM_001036.3	3531	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS45210.1	10591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGGATTTG	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	75/104	.	.	.	.	.	.	.	.	.	75/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.602)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Asp3531Tyr,ENST00000389232,;RYR3,missense_variant,p.Asp3526Tyr,ENST00000415757,;RYR3,upstream_gene_variant,,ENST00000558060,;RYR3,upstream_gene_variant,,ENST00000557931,;	10661	86	116	SUCCESS
NUTM1	256646	.	GRCh37	15	34640560	34640560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	106	0	ENST00000333756.4:c.407C>T	p.Ala136Val	p.A136V	ENST00000333756	NM_175741.1	136	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32190.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCATCTA	BUFFER|p.S137Y|c.410C>A|3	.	.	hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12881	.	.	ENSP00000329448	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000333756	Transcript	.	.	ENSG00000184507	29919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	NUTM1_HUMAN	NUTM1	HGNC	.	.	UPI000016159A	SNV	NUTM1,missense_variant,p.Ala164Val,ENST00000537011,;NUTM1,missense_variant,p.Ala136Val,ENST00000333756,;NUTM1,missense_variant,p.Ala154Val,ENST00000438749,;	562	106	106	SUCCESS
DUOX1	53905	.	GRCh37	15	45440496	45440496	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	57	116	0	ENST00000321429.4:c.2669G>C	p.Cys890Ser	p.C890S	ENST00000321429	NM_017434.3	890	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS32221.1	2669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTGCCTGT	NONE	.	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000317997	.	22/35	.	.	.	.	.	.	.	.	.	22/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.42)	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,missense_variant,p.Cys890Ser,ENST00000389037,;DUOX1,missense_variant,p.Cys536Ser,ENST00000561166,;DUOX1,missense_variant,p.Cys890Ser,ENST00000321429,;CTD-2651B20.1,downstream_gene_variant,,ENST00000558039,;DUOX1,upstream_gene_variant,,ENST00000559221,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000559219,;DUOX1,non_coding_transcript_exon_variant,,ENST00000557893,;DUOX1,upstream_gene_variant,,ENST00000559716,;DUOX1,upstream_gene_variant,,ENST00000558446,;	3076	116	127	SUCCESS
KIAA1199	0	.	GRCh37	15	81234212	81234212	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773573643	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	48	0	ENST00000220244.3:c.3430G>T	p.Ala1144Ser	p.A1144S	ENST00000220244	NM_018689.1	1144	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS10315.1	3430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGCTCAG	NONE	byFrequency	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	26/30	.	.	.	.	.	.	.	.	rs773573643	26/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	SNV	KIAA1199,missense_variant,p.Ala1144Ser,ENST00000356249,;KIAA1199,missense_variant,p.Ala1144Ser,ENST00000220244,;KIAA1199,missense_variant,p.Ala1144Ser,ENST00000394685,;KIAA1199,downstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;KIAA1199,intron_variant,,ENST00000495041,;	3849	48	69	SUCCESS
SLCO3A1	28232	.	GRCh37	15	92459662	92459662	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs534712973	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	43	93	0	ENST00000318445.6:c.620G>A	p.Arg207Gln	p.R207Q	ENST00000318445	NM_013272.3	207	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10371.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCGGAGGA	NONE	.	.	hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000320634	.	2/10	.	.	.	.	.	.	.	.	rs534712973	2/10	PASS	ENST00000318445	Transcript	.	.	ENSG00000176463	10952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.12)	.	SO3A1_HUMAN	SLCO3A1	HGNC	.	.	UPI00001AF1F7	SNV	SLCO3A1,missense_variant,p.Arg207Gln,ENST00000318445,;SLCO3A1,missense_variant,p.Arg207Gln,ENST00000424469,;SLCO3A1,downstream_gene_variant,,ENST00000553304,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	834	93	102	SUCCESS
VWA3A	146177	.	GRCh37	16	22120822	22120822	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	30	0	ENST00000389398.5:c.503G>A	p.Gly168Glu	p.G168E	ENST00000389398	NM_173615.3	168	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45441.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGGGCCA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Superfamily_domains:SSF53300	.	.	ENSP00000374049	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.11)	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,missense_variant,p.Gly168Glu,ENST00000568328,;VWA3A,missense_variant,p.Gly168Glu,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,5_prime_UTR_variant,,ENST00000567131,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;VWA3A,intron_variant,,ENST00000562340,;	599	30	50	SUCCESS
PLK1	5347	.	GRCh37	16	23700573	23700573	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	25	120	0	ENST00000300093.4:c.1285G>C	p.Asp429His	p.D429H	ENST00000300093	NM_005030.3	429	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS10616.1	1285	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGATAAC	NONE	.	.	PROSITE_profiles:PS50078,hmmpanther:PTHR24345,Pfam_domain:PF00659,Gene3D:3.30.1120.30,Superfamily_domains:SSF82615	.	.	ENSP00000300093	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000300093	Transcript	.	.	ENSG00000166851	9077	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLK1_HUMAN	PLK1	HGNC	I3L309_HUMAN,I3L2H5_HUMAN,D3DWF3_HUMAN,B4E083_HUMAN	.	UPI0000131BF9	SNV	PLK1,missense_variant,p.Asp429His,ENST00000300093,;ERN2,downstream_gene_variant,,ENST00000457008,;ERN2,downstream_gene_variant,,ENST00000562458,;ERN2,downstream_gene_variant,,ENST00000256797,;CTD-2196E14.5,upstream_gene_variant,,ENST00000566143,;PLK1,non_coding_transcript_exon_variant,,ENST00000564794,;PLK1,non_coding_transcript_exon_variant,,ENST00000562272,;PLK1,downstream_gene_variant,,ENST00000562407,;PLK1,downstream_gene_variant,,ENST00000564947,;	1396	120	191	SUCCESS
WDR59	79726	.	GRCh37	16	74943789	74943789	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	78	110	0	ENST00000262144.6:c.1416A>G	p.Lys472=	p.K472=	ENST00000262144	NM_030581.3	472	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS32488.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTTTCTG	NONE	.	.	PROSITE_profiles:PS50908,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF96,Gene3D:3.10.110.10,SMART_domains:SM00591,Superfamily_domains:SSF54495	.	.	ENSP00000262144	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000262144	Transcript	.	.	ENSG00000103091	25706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR59_HUMAN	WDR59	HGNC	H3BUE9_HUMAN,H3BR95_HUMAN	.	UPI000019839C	SNV	WDR59,synonymous_variant,p.%3D,ENST00000262144,;WDR59,synonymous_variant,p.%3D,ENST00000569229,;WDR59,non_coding_transcript_exon_variant,,ENST00000562371,;WDR59,non_coding_transcript_exon_variant,,ENST00000569549,;WDR59,downstream_gene_variant,,ENST00000536050,;WDR59,upstream_gene_variant,,ENST00000569115,;WDR59,upstream_gene_variant,,ENST00000570070,;WDR59,upstream_gene_variant,,ENST00000566924,;WDR59,downstream_gene_variant,,ENST00000562539,;	1547	110	170	SUCCESS
MON1B	22879	.	GRCh37	16	77228317	77228317	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	40	0	ENST00000248248.3:c.561G>T	p.Arg187=	p.R187=	ENST00000248248	NM_014940.2	187	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10925.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGGGGGA	NONE	.	.	Prints_domain:PR01546,Pfam_domain:PF03164,hmmpanther:PTHR13027:SF13,hmmpanther:PTHR13027	.	.	ENSP00000248248	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000248248	Transcript	.	.	ENSG00000103111	25020	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MON1B_HUMAN	MON1B	HGNC	H3BUX9_HUMAN,H3BU99_HUMAN,H3BR21_HUMAN,H3BPL8_HUMAN	.	UPI0000072AD7	SNV	MON1B,synonymous_variant,p.%3D,ENST00000248248,;MON1B,synonymous_variant,p.%3D,ENST00000545553,;MON1B,synonymous_variant,p.%3D,ENST00000567291,;MON1B,synonymous_variant,p.%3D,ENST00000439557,;MON1B,intron_variant,,ENST00000320859,;SYCE1L,upstream_gene_variant,,ENST00000378644,;MON1B,downstream_gene_variant,,ENST00000563612,;MON1B,downstream_gene_variant,,ENST00000563279,;MON1B,downstream_gene_variant,,ENST00000569610,;MON1B,3_prime_UTR_variant,,ENST00000564006,;MON1B,non_coding_transcript_exon_variant,,ENST00000566455,;MON1B,downstream_gene_variant,,ENST00000566963,;	911	40	81	SUCCESS
ADPRM	56985	.	GRCh37	17	10614393	10614393	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	52	0	ENST00000379774.4:c.962del	p.Leu321Ter	p.L321*	ENST00000379774	NM_020233.4	321	Ttg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS11159.2	961	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGATGTTGAAA	NONE	.	.	Superfamily_domains:SSF56300,Gene3D:3.60.21.10,hmmpanther:PTHR16509:SF1,hmmpanther:PTHR16509	.	.	ENSP00000369099	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000379774	Transcript	.	.	ENSG00000170222	30925	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADPRM_HUMAN	ADPRM	HGNC	.	.	UPI000040A94B	deletion	ADPRM,frameshift_variant,p.Leu321Ter,ENST00000379774,;ADPRM,3_prime_UTR_variant,,ENST00000609540,;TMEM220,intron_variant,,ENST00000580787,;TMEM220,downstream_gene_variant,,ENST00000578345,;TMEM220,downstream_gene_variant,,ENST00000341871,;TMEM220,downstream_gene_variant,,ENST00000581949,;TMEM220,downstream_gene_variant,,ENST00000455996,;TMEM220,downstream_gene_variant,,ENST00000580186,;MAGOH2,downstream_gene_variant,,ENST00000584384,;ADPRM,3_prime_UTR_variant,,ENST00000468843,;MAGOH2,downstream_gene_variant,,ENST00000580926,;	1052	52	69	SUCCESS
NOS2	4843	.	GRCh37	17	26110007	26110007	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	105	215	0	ENST00000313735.6:c.593C>T	p.Pro198Leu	p.P198L	ENST00000313735	NM_000625.4	198	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11223.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTGGGGCA	NONE	.	.	hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Gene3D:3.90.340.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	.	.	ENSP00000327251	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,missense_variant,p.Pro198Leu,ENST00000313735,;	827	215	290	SUCCESS
CISD3	284106	.	GRCh37	17	36889706	36889706	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	31	0	ENST00000439660.2:c.382T>G	p.Ter128GlyextTer29	p.*128Gext*29	ENST00000439660	NM_001136498.1	128	Tga/Gga	0	.	.	.	.	.	G	*/G	protein_coding	YES	CCDS45662.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTGAGGG	NONE	.	.	.	.	.	ENSP00000391402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000439660	Transcript	.	.	ENSG00000230055	27578	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CISD3_HUMAN	CISD3	HGNC	.	.	UPI0000160913	SNV	CISD3,stop_lost,p.Ter128GlyextTer29,ENST00000439660,;PCGF2,downstream_gene_variant,,ENST00000578109,;MLLT6,downstream_gene_variant,,ENST00000325718,;PCGF2,downstream_gene_variant,,ENST00000579882,;PCGF2,downstream_gene_variant,,ENST00000585100,;PCGF2,downstream_gene_variant,,ENST00000578487,;PCGF2,downstream_gene_variant,,ENST00000581345,;PCGF2,downstream_gene_variant,,ENST00000360797,;PCGF2,downstream_gene_variant,,ENST00000580830,;RNA5SP440,upstream_gene_variant,,ENST00000363245,;CISD3,non_coding_transcript_exon_variant,,ENST00000578573,;CISD3,non_coding_transcript_exon_variant,,ENST00000581668,;	506	31	42	SUCCESS
NPEPPS	9520	.	GRCh37	17	45608887	45608887	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	78	199	0	ENST00000322157.4:c.221T>A	p.Phe74Tyr	p.F74Y	ENST00000322157	NM_006310.3	74	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS45721.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTTCACCT	BUFFER|p.D73D|c.219C>T|3	.	.	hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF163,Pfam_domain:PF01433,Superfamily_domains:0038696	.	.	ENSP00000320324	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000322157	Transcript	.	.	ENSG00000141279	7900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.03)	.	PSA_HUMAN	NPEPPS	HGNC	E9PJ74_HUMAN,B7Z1H4_HUMAN	.	UPI0000140D51	SNV	NPEPPS,missense_variant,p.Phe61Tyr,ENST00000525007,;NPEPPS,missense_variant,p.Phe70Tyr,ENST00000530173,;NPEPPS,missense_variant,p.Phe74Tyr,ENST00000322157,;NPEPPS,missense_variant,p.Phe30Tyr,ENST00000544660,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000528751,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000533573,;NPEPPS,intron_variant,,ENST00000525037,;NPEPPS,missense_variant,p.Phe70Tyr,ENST00000526247,;NPEPPS,missense_variant,p.Phe74Tyr,ENST00000527298,;NPEPPS,missense_variant,p.Phe70Tyr,ENST00000532729,;NPEPPS,missense_variant,p.Phe45Tyr,ENST00000534691,;	458	199	241	SUCCESS
SCN4A	6329	.	GRCh37	17	62020305	62020305	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	133	327	0	ENST00000435607.1:c.4169T>C	p.Met1390Thr	p.M1390T	ENST00000435607	NM_000334.4	1390	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS45761.1	4169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCATGTTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000396320	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000435607	Transcript	.	.	ENSG00000007314	10591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	deleterious(0.02)	.	SCN4A_HUMAN	SCN4A	HGNC	Q9H3L9_HUMAN	.	UPI0000201254	SNV	SCN4A,missense_variant,p.Met1390Thr,ENST00000435607,;SCN4A,missense_variant,p.Met1390Thr,ENST00000578147,;	4246	327	355	SUCCESS
GPR142	350383	.	GRCh37	17	72363763	72363763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	81	0	ENST00000335666.4:c.119C>T	p.Ser40Phe	p.S40F	ENST00000335666	NM_181790.1	40	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS11698.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTCCCATG	NONE	.	.	.	.	.	ENSP00000335158	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000335666	Transcript	.	.	ENSG00000257008	20088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated_low_confidence(0.07)	.	GP142_HUMAN	GPR142	HGNC	.	.	UPI00001AA7F1	SNV	GPR142,missense_variant,p.Ser40Phe,ENST00000335666,;GPR142,missense_variant,p.Ser40Phe,ENST00000585308,;GPR142,missense_variant,p.Ser40Phe,ENST00000582579,;	167	81	94	SUCCESS
RHBDF2	79651	.	GRCh37	17	74473344	74473344	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	39	0	ENST00000313080.4:c.925T>A	p.Ser309Thr	p.S309T	ENST00000313080	NM_024599.5	309	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS32743.1	925	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGACTCAA	NONE	.	.	hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF10,Pfam_domain:PF12595	.	.	ENSP00000322775	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000313080	Transcript	.	.	ENSG00000129667	20788	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	RHDF2_HUMAN	RHBDF2	HGNC	K7EQT5_HUMAN,K7EPV3_HUMAN,K7ELA9_HUMAN,K7EJ10_HUMAN	.	UPI0000DBEF0D	SNV	RHBDF2,missense_variant,p.Ser280Thr,ENST00000389760,;RHBDF2,missense_variant,p.Ser280Thr,ENST00000591885,;RHBDF2,missense_variant,p.Ser309Thr,ENST00000313080,;RHBDF2,downstream_gene_variant,,ENST00000585989,;RHBDF2,downstream_gene_variant,,ENST00000590288,;RHBDF2,downstream_gene_variant,,ENST00000592123,;RHBDF2,downstream_gene_variant,,ENST00000590322,;RHBDF2,downstream_gene_variant,,ENST00000585701,;RHBDF2,downstream_gene_variant,,ENST00000591879,;RHBDF2,downstream_gene_variant,,ENST00000589526,;RHBDF2,downstream_gene_variant,,ENST00000591192,;RHBDF2,downstream_gene_variant,,ENST00000591255,;RHBDF2,downstream_gene_variant,,ENST00000591697,;RHBDF2,upstream_gene_variant,,ENST00000591860,;RHBDF2,downstream_gene_variant,,ENST00000592378,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000587640,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000590168,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000589582,;	1199	39	57	SUCCESS
ROCK1	6093	.	GRCh37	18	18629104	18629105	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs35810558	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	13	79	0	ENST00000399799.2:c.362dup	p.Trp122LeufsTer25	p.W122Lfs*25	ENST00000399799	NM_005406.2	121	ttc/ttTc	0	.	.	.	.	.	A	F/FX	protein_coding	YES	CCDS11870.2	362-363	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCAGAAAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF037568,Superfamily_domains:SSF56112	.	.	ENSP00000382697	.	4/33	.	.	.	.	.	.	.	.	COSM1387938	4/33	PASS	ENST00000399799	Transcript	.	.	ENSG00000067900	10251	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ROCK1_HUMAN	ROCK1	HGNC	.	.	UPI000006F0A4	insertion	ROCK1,frameshift_variant,p.Trp122LeufsTer25,ENST00000399799,;ROCK1,non_coding_transcript_exon_variant,,ENST00000582445,;	1303-1304	79	125	SUCCESS
ZNF397	84307	.	GRCh37	18	32823306	32823306	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	28	0	ENST00000330501.7:c.556+49T>C		p.*186*	ENST00000330501	NM_001135178.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45852.1	.	RADIA|MUSE	.	TCTGTTTTTGA	NONE	.	.	.	.	.	ENSP00000331577	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330501	Transcript	.	.	ENSG00000186812	18818	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN397_HUMAN	ZNF397	HGNC	M0R288_HUMAN	.	UPI000000D7E4	SNV	ZNF397,missense_variant,p.Phe202Ser,ENST00000585800,;ZNF397,missense_variant,p.Phe202Ser,ENST00000591206,;ZNF397,intron_variant,,ENST00000261333,;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000592264,;ZNF397,intron_variant,,ENST00000330501,;ZNF397,downstream_gene_variant,,ENST00000588119,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZNF397,intron_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;	.	28	26	SUCCESS
MAST1	22983	.	GRCh37	19	12978549	12978549	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	35	0	ENST00000251472.4:c.2324G>C	p.Arg775Pro	p.R775P	ENST00000251472	NM_014975.2	775	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS32921.1	2324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGATTCT	NONE	.	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150	.	.	ENSP00000251472	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000251472	Transcript	.	.	ENSG00000105613	19034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious_low_confidence(0)	.	MAST1_HUMAN	MAST1	HGNC	.	.	UPI000004A042	SNV	MAST1,missense_variant,p.Arg775Pro,ENST00000251472,;AC020934.1,downstream_gene_variant,,ENST00000578125,;HOOK2,intron_variant,,ENST00000589765,;MAST1,downstream_gene_variant,,ENST00000589040,;MAST1,upstream_gene_variant,,ENST00000590553,;	2363	35	44	SUCCESS
GPI	2821	.	GRCh37	19	34887542	34887542	+	synonymous_variant	Silent	SNP	C	C	A	rs373085760	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	69	0	ENST00000356487.5:c.1249C>A	p.Arg417=	p.R417=	ENST00000356487	NM_000175.3	417	Cgg/Agg	0	T:0	.	.	.	.	A	R	protein_coding	YES	CCDS54246.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATACGGAAG	NONE	.	.	hmmpanther:PTHR11469,hmmpanther:PTHR11469:SF4,HAMAP:MF_00473,PROSITE_profiles:PS51463,Superfamily_domains:SSF53697,Pfam_domain:PF00342,Gene3D:3.40.50.10490	.	T:0.0001	ENSP00000405573	.	14/18	.	.	.	.	.	.	.	.	rs373085760	14/18	PASS	ENST00000415930	Transcript	1	.	ENSG00000105220	4458	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G6PI_HUMAN	GPI	HGNC	K7EPY4_HUMAN,K7ERK8_HUMAN,K7ELR7_HUMAN,K7EIL4_HUMAN,B4DE36_HUMAN	.	UPI00017A6DE4	SNV	GPI,synonymous_variant,p.%3D,ENST00000588991,;GPI,synonymous_variant,p.%3D,ENST00000415930,;RP11-618P17.4,synonymous_variant,p.%3D,ENST00000592740,;GPI,synonymous_variant,p.%3D,ENST00000586425,;GPI,synonymous_variant,p.%3D,ENST00000356487,;RP11-618P17.4,upstream_gene_variant,,ENST00000606020,;GPI,non_coding_transcript_exon_variant,,ENST00000589985,;GPI,non_coding_transcript_exon_variant,,ENST00000586392,;GPI,upstream_gene_variant,,ENST00000586077,;	1452	69	99	SUCCESS
CEACAM5	1048	.	GRCh37	19	42212618	42212618	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	39	0	ENST00000221992.6:c.-33C>A		p.*11*	ENST00000221992	NM_004363.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCCACAG	NONE	.	.	.	.	.	ENSP00000469421	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000598976	Transcript	.	.	ENSG00000267881	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CEA	Uniprot_gn	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI0002A4737D	SNV	CEA,5_prime_UTR_variant,,ENST00000598976,;CEA,5_prime_UTR_variant,,ENST00000435837,;CEACAM5,5_prime_UTR_variant,,ENST00000398599,;CEACAM5,5_prime_UTR_variant,,ENST00000221992,;CEACAM5,5_prime_UTR_variant,,ENST00000405816,;CEACAM5,upstream_gene_variant,,ENST00000595403,;CEACAM5,upstream_gene_variant,,ENST00000595113,;CEACAM7,upstream_gene_variant,,ENST00000599715,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000460121,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000596606,;	88	39	55	SUCCESS
HIF3A	64344	.	GRCh37	19	46812017	46812017	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	39	0	ENST00000377670.4:c.546G>A	p.Lys182=	p.K182=	ENST00000377670	NM_152795.3	182	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS12681.2	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAGGCGGC	NONE	.	.	hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043	.	.	ENSP00000366898	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000377670	Transcript	.	.	ENSG00000124440	15825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIF3A_HUMAN	HIF3A	HGNC	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN	.	UPI00002026E2	SNV	HIF3A,synonymous_variant,p.%3D,ENST00000472815,;HIF3A,synonymous_variant,p.%3D,ENST00000377670,;HIF3A,synonymous_variant,p.%3D,ENST00000300862,;HIF3A,synonymous_variant,p.%3D,ENST00000244303,;HIF3A,synonymous_variant,p.%3D,ENST00000420102,;HIF3A,synonymous_variant,p.%3D,ENST00000600383,;HIF3A,synonymous_variant,p.%3D,ENST00000339613,;HIF3A,downstream_gene_variant,,ENST00000533145,;RNU6-924P,upstream_gene_variant,,ENST00000362926,;HIF3A,non_coding_transcript_exon_variant,,ENST00000525854,;HIF3A,3_prime_UTR_variant,,ENST00000533789,;HIF3A,3_prime_UTR_variant,,ENST00000528563,;HIF3A,3_prime_UTR_variant,,ENST00000600879,;HIF3A,non_coding_transcript_exon_variant,,ENST00000475432,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529205,;HIF3A,downstream_gene_variant,,ENST00000524533,;HIF3A,downstream_gene_variant,,ENST00000526506,;HIF3A,upstream_gene_variant,,ENST00000531043,;	577	39	60	SUCCESS
MTHFR	4524	.	GRCh37	1	11863501	11863501	+	intron_variant	Intron	SNP	T	T	C	rs1251919379	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	135	0	ENST00000376590.3:c.-13-315A>G		p.*5*	ENST00000376590	NM_005957.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS137.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCTGCGAG	NONE	.	199	.	.	.	ENSP00000365777	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376592	Transcript	.	.	ENSG00000177000	7436	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTHR_HUMAN	MTHFR	HGNC	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN	.	UPI0000141098	SNV	MTHFR,missense_variant,p.Gln24Arg,ENST00000376583,;MTHFR,missense_variant,p.Gln24Arg,ENST00000376585,;MTHFR,5_prime_UTR_variant,,ENST00000423400,;MTHFR,intron_variant,,ENST00000418034,;MTHFR,intron_variant,,ENST00000413656,;MTHFR,intron_variant,,ENST00000376590,;MTHFR,intron_variant,,ENST00000376486,;MTHFR,intron_variant,,ENST00000431243,;CLCN6,upstream_gene_variant,,ENST00000376487,;CLCN6,upstream_gene_variant,,ENST00000346436,;CLCN6,upstream_gene_variant,,ENST00000376497,;MTHFR,upstream_gene_variant,,ENST00000376592,;CLCN6,upstream_gene_variant,,ENST00000376496,;CLCN6,upstream_gene_variant,,ENST00000312413,;CLCN6,upstream_gene_variant,,ENST00000376490,;CLCN6,upstream_gene_variant,,ENST00000376491,;CLCN6,upstream_gene_variant,,ENST00000376492,;	.	135	134	SUCCESS
BCAN	63827	.	GRCh37	1	156618360	156618360	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	68	0	ENST00000329117.5:c.770G>C	p.Gly257Ala	p.G257A	ENST00000329117	NM_021948.4	257	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS1149.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGAGAAC	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000331210	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,missense_variant,p.Gly257Ala,ENST00000361588,;BCAN,missense_variant,p.Gly155Ala,ENST00000424639,;BCAN,missense_variant,p.Gly257Ala,ENST00000329117,;BCAN,downstream_gene_variant,,ENST00000441358,;BCAN,downstream_gene_variant,,ENST00000457777,;RP11-284F21.7,intron_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,splice_region_variant,,ENST00000479949,;BCAN,splice_region_variant,,ENST00000491823,;	1106	68	77	SUCCESS
ARHGEF11	9826	.	GRCh37	1	157014243	157014243	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	41	0	ENST00000361409.2:c.-121A>G		p.*41*	ENST00000361409	NM_014784.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1163.1	.	MUTECT|MUSE	.	AATCCTTTCTC	NONE	.	.	.	.	.	ENSP00000357177	.	1/41	.	.	.	.	.	.	.	.	.	1/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,5_prime_UTR_variant,,ENST00000361409,;ARHGEF11,5_prime_UTR_variant,,ENST00000368194,;	920	41	37	SUCCESS
CD244	51744	.	GRCh37	1	160801203	160801203	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs146201991	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	15	68	0	ENST00000368033.3:c.1047A>C	p.Gln349His	p.Q349H	ENST00000368033		349	caA/caC	0	C:0.0002	C:0	.	C:0	.	G	Q/H	protein_coding	YES	CCDS53399.1	1047	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGTTGACT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF3	C:0.001	C:0.0002	ENSP00000357012	C:0	9/9	.	.	.	.	.	.	.	.	rs146201991	9/9	PASS	ENST00000368033	Transcript	.	C:0.0002	ENSG00000122223	18171	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	C:0	tolerated(0.55)	.	CD244_HUMAN	CD244	HGNC	.	.	UPI0000367808	SNV	CD244,missense_variant,p.Gln252His,ENST00000322302,;CD244,missense_variant,p.Gln349His,ENST00000368033,;CD244,missense_variant,p.Gln344His,ENST00000368034,;LY9,downstream_gene_variant,,ENST00000368041,;LY9,downstream_gene_variant,,ENST00000368035,;LY9,downstream_gene_variant,,ENST00000341032,;LY9,downstream_gene_variant,,ENST00000368040,;CD244,downstream_gene_variant,,ENST00000368032,;LY9,downstream_gene_variant,,ENST00000392203,;LY9,downstream_gene_variant,,ENST00000368037,;LY9,downstream_gene_variant,,ENST00000263285,;CD244,downstream_gene_variant,,ENST00000481677,;CD244,3_prime_UTR_variant,,ENST00000492063,;	1130	68	106	SUCCESS
LRRN2	10446	.	GRCh37	1	204588961	204588961	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	76	0	ENST00000367175.1:c.160G>T	p.Asp54Tyr	p.D54Y	ENST00000367175		54	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS1448.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTCCACAG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF9,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000356143	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367175	Transcript	.	.	ENSG00000170382	16914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRRN2_HUMAN	LRRN2	HGNC	B3KM66_HUMAN	.	UPI000013E8AC	SNV	LRRN2,missense_variant,p.Asp54Tyr,ENST00000367177,;LRRN2,missense_variant,p.Asp54Tyr,ENST00000367176,;LRRN2,missense_variant,p.Asp54Tyr,ENST00000367175,;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	2373	76	76	SUCCESS
CR1	1378	.	GRCh37	1	207739189	207739189	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	281	188	346	0	ENST00000367051.1:c.2523A>G	p.Gln841=	p.Q841=	ENST00000367051		841	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS44308.1	3873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAATTAAA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	24/47	.	.	.	.	.	.	.	.	.	24/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,synonymous_variant,p.%3D,ENST00000367051,;CR1,synonymous_variant,p.%3D,ENST00000400960,;CR1,synonymous_variant,p.%3D,ENST00000367049,;CR1,synonymous_variant,p.%3D,ENST00000529814,;CR1,synonymous_variant,p.%3D,ENST00000367053,;CR1,intron_variant,,ENST00000367052,;CR1,intron_variant,,ENST00000534202,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,downstream_gene_variant,,ENST00000596003,;CR1,non_coding_transcript_exon_variant,,ENST00000436595,;	3873	346	469	SUCCESS
SLC30A1	7779	.	GRCh37	1	211749145	211749145	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1188914296	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	35	0	ENST00000367001.4:c.1109A>T	p.His370Leu	p.H370L	ENST00000367001	NM_021194.2	370	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS1499.1	1109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATGAACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Pfam_domain:PF01545,Superfamily_domains:SSF160240	.	.	ENSP00000355968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	SNV	SLC30A1,missense_variant,p.His370Leu,ENST00000367001,;	1239	35	55	SUCCESS
USH2A	7399	.	GRCh37	1	216420124	216420124	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	79	145	0	ENST00000307340.3:c.2612A>T	p.Lys871Ile	p.K871I	ENST00000307340	NM_206933.2	871	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS31025.1	2612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATTTGCAA	NONE	.	.	Prints_domain:PR00011,Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	13/72	.	.	.	.	.	.	.	.	.	13/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Lys871Ile,ENST00000366942,;USH2A,missense_variant,p.Lys871Ile,ENST00000366943,;USH2A,missense_variant,p.Lys871Ile,ENST00000307340,;	2999	145	214	SUCCESS
EPS15	2060	.	GRCh37	1	51984939	51984939	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs368726209	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	31	0	ENST00000371733.3:c.-36C>G		p.*12*	ENST00000371733	NM_001981.2			0	C:0	.	.	.	.	C	.	protein_coding	YES	CCDS557.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGGGCTG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000360798	.	1/25	.	.	.	.	.	.	.	.	rs368726209	1/25	PASS	ENST00000371733	Transcript	.	.	ENSG00000085832	3419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPS15_HUMAN	EPS15	HGNC	.	.	UPI0000161B29	SNV	EPS15,5_prime_UTR_variant,,ENST00000371733,;EPS15,upstream_gene_variant,,ENST00000371730,;RP11-191G24.1,intron_variant,,ENST00000415031,;RP11-191G24.1,intron_variant,,ENST00000426017,;EPS15,upstream_gene_variant,,ENST00000471391,;EPS15,upstream_gene_variant,,ENST00000371727,;EPS15,upstream_gene_variant,,ENST00000465467,;	62	31	62	SUCCESS
RPL22	6146	.	GRCh37	1	6257784	6257785	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs759765382	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	19	0	ENST00000234875.4:c.44dup	p.Lys16GlufsTer9	p.K16Efs*9	ENST00000234875	NM_000983.3	15	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS58.1	44-45	INDELOCATOR|VARSCANI	.	TGCTTCTTTTT	CODON|p.K15fs*5|c.44delA|6	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10064:SF2,hmmpanther:PTHR10064,Pfam_domain:PF01776	.	.	ENSP00000346088	.	2/4	.	.	.	.	.	.	.	.	rs777006564,COSM1343741	2/4	PASS	ENST00000234875	Transcript	.	.	ENSG00000116251	10315	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	RL22_HUMAN	RPL22	HGNC	Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN	.	UPI000015A487	insertion	RPL22,frameshift_variant,p.Lys16GlufsTer9,ENST00000234875,;RPL22,5_prime_UTR_variant,,ENST00000465387,;RPL22,5_prime_UTR_variant,,ENST00000497965,;RPL22,5_prime_UTR_variant,,ENST00000462296,;RPL22,5_prime_UTR_variant,,ENST00000471204,;RPL22,5_prime_UTR_variant,,ENST00000484532,;RPL22,5_prime_UTR_variant,,ENST00000465335,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,;	83-84	19	25	SUCCESS
DNAJB4	11080	.	GRCh37	1	78479088	78479088	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	42	54	0	ENST00000370763.5:c.565G>A	p.Asp189Asn	p.D189N	ENST00000370763	NM_007034.3	189	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS684.1	565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTGATGGA	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	.	.	ENSP00000359799	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370763	Transcript	.	.	ENSG00000162616	14886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.06)	.	DNJB4_HUMAN	DNAJB4	HGNC	C9JUL4_HUMAN,B4DNN2_HUMAN	.	UPI000000164F	SNV	DNAJB4,missense_variant,p.Asp189Asn,ENST00000370763,;DNAJB4,downstream_gene_variant,,ENST00000426517,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000484662,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000487931,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000477671,;GIPC2,intron_variant,,ENST00000476882,;DNAJB4,intron_variant,,ENST00000476396,;	822	54	98	SUCCESS
C20orf26	0	.	GRCh37	20	20177325	20177325	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142308308	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	106	103	0	ENST00000245957.5:c.1702C>T	p.Arg568Trp	p.R568W	ENST00000245957	NM_015585.3	568	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS33447.1	1702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCGGCAC	NONE	byCluster	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	T:0.0001	ENSP00000245957	.	16/27	.	.	.	.	.	.	.	.	rs142308308	16/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.01)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Arg108Trp,ENST00000431753,;C20orf26,missense_variant,p.Arg568Trp,ENST00000245957,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,non_coding_transcript_exon_variant,,ENST00000476414,;C20orf26,non_coding_transcript_exon_variant,,ENST00000468719,;C20orf26,non_coding_transcript_exon_variant,,ENST00000471716,;	1778	103	185	SUCCESS
MROH8	140699	.	GRCh37	20	35807862	35807862	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	30	0	ENST00000343811.4:c.102A>G	p.Glu34=	p.E34=	ENST00000343811	NM_152503.4	34	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	.	102	RADIA|MUSE|VARSCANS	.	TCCCCTTCCCC	NONE	.	.	.	.	.	ENSP00000339971	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000343811	Transcript	.	.	ENSG00000101353	16125	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MROH8	HGNC	Q5JYR0_HUMAN,Q5JYQ9_HUMAN	.	UPI0000E5A31D	SNV	MROH8,missense_variant,p.Arg8Gly,ENST00000400441,;MROH8,synonymous_variant,p.%3D,ENST00000343811,;MROH8,synonymous_variant,p.%3D,ENST00000421643,;MROH8,synonymous_variant,p.%3D,ENST00000400440,;RPN2,intron_variant,,ENST00000373632,;RPN2,intron_variant,,ENST00000237530,;RPN2,intron_variant,,ENST00000456102,;RPN2,intron_variant,,ENST00000373622,;MROH8,upstream_gene_variant,,ENST00000422138,;MROH8,upstream_gene_variant,,ENST00000441008,;MROH8,upstream_gene_variant,,ENST00000434295,;RPN2,intron_variant,,ENST00000462163,;	101	30	36	SUCCESS
CSNK2A1	1457	.	GRCh37	20	489179	489184	+	inframe_deletion	In_Frame_Del	DEL	GGCACG	GGCACG	-	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	GGCACG	GGCACG	.	.	.	.	.	.	.	.	.	.	.	.	.	106	41	100	0	ENST00000217244.3:c.12_17del	p.Val5_Pro6del	p.V5_P6del	ENST00000217244	NM_177559.2	4	ccCGTGCCa/cca	0	.	.	.	.	.	-	PVP/P	protein_coding	YES	CCDS13003.1	12-17	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCTTGGCACGGGTCC	NONE	.	.	hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054,Superfamily_domains:SSF56112	.	.	ENSP00000217244	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000217244	Transcript	.	.	ENSG00000101266	2457	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSK21_HUMAN	CSNK2A1	HGNC	.	.	UPI0000000CB5	deletion	CSNK2A1,inframe_deletion,p.Val5_Pro6del,ENST00000349736,;CSNK2A1,inframe_deletion,p.Val5_Pro6del,ENST00000400227,;CSNK2A1,inframe_deletion,p.Val5_Pro6del,ENST00000609525,;CSNK2A1,inframe_deletion,p.Val5_Pro6del,ENST00000608066,;CSNK2A1,inframe_deletion,p.Val5_Pro6del,ENST00000217244,;CSNK2A1,intron_variant,,ENST00000460062,;CSNK2A1,intron_variant,,ENST00000400217,;CSNK2A1,non_coding_transcript_exon_variant,,ENST00000609606,;CSNK2A1,non_coding_transcript_exon_variant,,ENST00000608490,;	388-393	100	147	SUCCESS
ADAMTS1	9510	.	GRCh37	21	28211905	28211905	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	24	0	ENST00000284984.3:c.2028+1G>T		p.X676_splice	ENST00000284984	NM_006988.3	676		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33524.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTACCTTGG	NONE	.	.	.	.	.	ENSP00000284984	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000284984	Transcript	.	.	ENSG00000154734	217	.	.	HIGH	7/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS1_HUMAN	ADAMTS1	HGNC	E5RI60_HUMAN	.	UPI000013DDC6	SNV	ADAMTS1,splice_donor_variant,,ENST00000284984,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,splice_donor_variant,,ENST00000492656,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;	.	24	24	SUCCESS
KRTAP13-4	284827	.	GRCh37	21	31802993	31802993	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1449551043	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	81	117	0	ENST00000334068.2:c.400C>A	p.Pro134Thr	p.P134T	ENST00000334068	NM_181600.1	134	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS13592.1	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACCCAAAC	NONE	.	.	hmmpanther:PTHR19051:SF10,hmmpanther:PTHR19051,Pfam_domain:PF05287	.	.	ENSP00000334834	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334068	Transcript	.	.	ENSG00000186971	18926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.01)	.	KR134_HUMAN	KRTAP13-4	HGNC	.	.	UPI000003B46D	SNV	KRTAP13-4,missense_variant,p.Pro134Thr,ENST00000334068,;KRTAP13-3,upstream_gene_variant,,ENST00000390690,;	422	117	170	SUCCESS
C21orf59	0	.	GRCh37	21	33976524	33976524	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367724246	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	67	95	0	ENST00000290155.3:c.445G>T	p.Ala149Ser	p.A149S	ENST00000290155	NM_021254.2	149	Gcg/Tcg	0	T:0	.	.	.	.	A	A/S	protein_coding	YES	.	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGCGCCTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13238	.	T:0.0001	ENSP00000446874	.	4/7	.	.	.	.	.	.	.	.	rs367724246	4/7	PASS	ENST00000553001	Transcript	.	.	ENSG00000265590	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0.02)	.	.	AP000275.65	Clone_based_vega_gene	F8VZ95_HUMAN	.	UPI0000E5A3A4	SNV	AP000275.65,missense_variant,p.Ala149Ser,ENST00000553001,;AP000275.65,missense_variant,p.Ala117Ser,ENST00000431216,;C21orf59,missense_variant,p.Ala149Ser,ENST00000290155,;C21orf59,missense_variant,p.Ala149Ser,ENST00000440966,;C21orf59,missense_variant,p.Ala93Ser,ENST00000540881,;C21orf59,missense_variant,p.Ala149Ser,ENST00000382549,;C21orf59,missense_variant,p.Ala132Ser,ENST00000458138,;C21orf59,upstream_gene_variant,,ENST00000425336,;C21orf59,upstream_gene_variant,,ENST00000431599,;C21orf59,missense_variant,p.Arg126Leu,ENST00000300260,;C21orf59,non_coding_transcript_exon_variant,,ENST00000483315,;	483	95	148	SUCCESS
RAC2	5880	.	GRCh37	22	37627330	37627330	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	114	217	1	ENST00000249071.6:c.389A>G	p.Lys130Arg	p.K130R	ENST00000249071	NM_002872.4	130	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13945.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTTCAGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24072:SF104,hmmpanther:PTHR24072,PROSITE_profiles:PS51420	.	.	ENSP00000249071	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000249071	Transcript	.	.	ENSG00000128340	9802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated_low_confidence(0.55)	.	RAC2_HUMAN	RAC2	HGNC	B1AH78_HUMAN,B1AH77_HUMAN	.	UPI00001110AB	SNV	RAC2,missense_variant,p.Lys123Arg,ENST00000405484,;RAC2,missense_variant,p.Lys130Arg,ENST00000249071,;RAC2,missense_variant,p.Lys130Arg,ENST00000441619,;RAC2,missense_variant,p.Lys86Arg,ENST00000406508,;RAC2,non_coding_transcript_exon_variant,,ENST00000481215,;RAC2,downstream_gene_variant,,ENST00000469532,;	511	218	290	SUCCESS
RANBP2	5903	.	GRCh37	2	109384278	109384278	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	23	0	ENST00000283195.6:c.7283T>C	p.Val2428Ala	p.V2428A	ENST00000283195	NM_006267.4	2428	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2079.1	7283	MUTECT|MUSE	.	GGATGTTGCAG	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.281)	.	deleterious(0.05)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Val2428Ala,ENST00000283195,;	7409	23	53	SUCCESS
NCKAP1	10787	.	GRCh37	2	183847561	183847561	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	81	96	0	ENST00000361354.4:c.1196A>G	p.Asp399Gly	p.D399G	ENST00000361354		399	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2288.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGTCGTCT	NONE	.	.	Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11	.	.	ENSP00000354251	.	13/32	.	.	.	.	.	.	.	.	.	13/32	PASS	ENST00000360982	Transcript	.	.	ENSG00000061676	7666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	deleterious(0)	.	NCKP1_HUMAN	NCKAP1	HGNC	.	.	UPI00001693F2	SNV	NCKAP1,missense_variant,p.Asp405Gly,ENST00000360982,;NCKAP1,missense_variant,p.Asp399Gly,ENST00000361354,;	1973	96	184	SUCCESS
SPEG	10290	.	GRCh37	2	220354314	220354314	+	synonymous_variant	Silent	SNP	G	G	A	rs1414519807	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	82	0	ENST00000312358.7:c.8574G>A	p.Ala2858=	p.A2858=	ENST00000312358	NM_005876.4	2858	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42824.1	8574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGGAGCC	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	36/41	.	.	.	.	.	.	.	.	.	36/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,synonymous_variant,p.%3D,ENST00000312358,;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	8706	82	88	SUCCESS
SOS1	6654	.	GRCh37	2	39213099	39213099	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	191	379	0	ENST00000402219.2:c.3868C>T	p.Pro1290Ser	p.P1290S	ENST00000402219	NM_005633.3	1290	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1802.1	3868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGGCCCAG	NONE	.	.	.	.	.	ENSP00000387784	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious_low_confidence(0.01)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Pro1275Ser,ENST00000395038,;SOS1,missense_variant,p.Pro1290Ser,ENST00000426016,;SOS1,missense_variant,p.Pro1290Ser,ENST00000402219,;SOS1,downstream_gene_variant,,ENST00000469581,;	3955	379	478	SUCCESS
GPR75	10936	.	GRCh37	2	54081699	54081699	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	86	162	0	ENST00000394705.2:c.195G>A	p.Leu65=	p.L65=	ENST00000394705	NM_006794.3	65	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1849.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGACAAGAA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF7,PROSITE_profiles:PS50262	.	.	ENSP00000378195	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394705	Transcript	.	.	ENSG00000119737	4526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR75_HUMAN	GPR75	HGNC	.	.	UPI0000050454	SNV	GPR75,synonymous_variant,p.%3D,ENST00000394705,;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;	466	162	209	SUCCESS
ZNF638	27332	.	GRCh37	2	71592562	71592563	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	28	0	ENST00000264447.4:c.1728dup	p.Ala577SerfsTer16	p.A577Sfs*16	ENST00000264447	NM_001014972.2	574	aga/agAa	0	.	.	.	.	.	A	R/RX	protein_coding	YES	CCDS1917.1	1721-1722	INDELOCATOR|VARSCANI	.	AGATAGAAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	insertion	ZNF638,frameshift_variant,p.Ala5SerfsTer16,ENST00000601581,;ZNF638,frameshift_variant,p.Ala577SerfsTer16,ENST00000409544,;ZNF638,frameshift_variant,p.Ala577SerfsTer16,ENST00000264447,;ZNF638,frameshift_variant,p.Ala577SerfsTer16,ENST00000377802,;ZNF638,frameshift_variant,p.Ala577SerfsTer16,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466975,;ZNF638,non_coding_transcript_exon_variant,,ENST00000464375,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466330,;ZNF638,non_coding_transcript_exon_variant,,ENST00000494621,;ZNF638,non_coding_transcript_exon_variant,,ENST00000475743,;	2351-2352	28	61	SUCCESS
TF	7018	.	GRCh37	3	133476711	133476712	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	46	85	0	ENST00000402696.3:c.970dup	p.Val324GlyfsTer14	p.V324Gfs*14	ENST00000402696	NM_001063.3	323	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS3080.1	969-970	INDELOCATOR|VARSCANI	.	TTAAAAGTCCC	CODON|p.R327fs*11|c.971_972insC|3	.	.	Prints_domain:PR00422,Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408	.	.	ENSP00000385834	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	insertion	TF,frameshift_variant,p.Val324GlyfsTer14,ENST00000402696,;TF,frameshift_variant,p.Val197GlyfsTer14,ENST00000264998,;TF,downstream_gene_variant,,ENST00000466911,;TF,downstream_gene_variant,,ENST00000482271,;TFP1,downstream_gene_variant,,ENST00000460564,;TF,downstream_gene_variant,,ENST00000475382,;TF,3_prime_UTR_variant,,ENST00000485977,;TF,downstream_gene_variant,,ENST00000493011,;TF,downstream_gene_variant,,ENST00000460531,;TF,downstream_gene_variant,,ENST00000494430,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000414694,;TF,downstream_gene_variant,,ENST00000498622,;RP11-404G16.2,upstream_gene_variant,,ENST00000474389,;	1454-1455	86	130	SUCCESS
TF	7018	.	GRCh37	3	133476713	133476713	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	86	0	ENST00000402696.3:c.971T>C	p.Val324Ala	p.V324A	ENST00000402696	NM_001063.3	324	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3080.1	971	SOMATICSNIPER|VARSCANS	.	AAAAGTCCCCC	CODON|p.R327fs*11|c.971_972insC|3	.	.	Prints_domain:PR00422,Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408	.	.	ENSP00000385834	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	SNV	TF,missense_variant,p.Val324Ala,ENST00000402696,;TF,missense_variant,p.Val197Ala,ENST00000264998,;TF,downstream_gene_variant,,ENST00000466911,;TF,downstream_gene_variant,,ENST00000482271,;TFP1,downstream_gene_variant,,ENST00000460564,;TF,downstream_gene_variant,,ENST00000475382,;TF,3_prime_UTR_variant,,ENST00000485977,;TF,downstream_gene_variant,,ENST00000493011,;TF,downstream_gene_variant,,ENST00000460531,;TF,downstream_gene_variant,,ENST00000494430,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000414694,;TF,downstream_gene_variant,,ENST00000498622,;RP11-404G16.2,upstream_gene_variant,,ENST00000474389,;	1456	86	127	SUCCESS
PTPN23	25930	.	GRCh37	3	47453376	47453376	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs754079072	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	83	153	0	ENST00000265562.4:c.3992A>T	p.Glu1331Val	p.E1331V	ENST00000265562	NM_015466.2	1331	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS2754.1	3992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGAGCGCG	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF27,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000265562	.	21/25	.	.	.	.	.	.	.	.	rs754079072	21/25	PASS	ENST00000265562	Transcript	.	.	ENSG00000076201	14406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	PTN23_HUMAN	PTPN23	HGNC	B4DST5_HUMAN	.	UPI000006EBC4	SNV	PTPN23,missense_variant,p.Glu1205Val,ENST00000431726,;PTPN23,missense_variant,p.Glu1331Val,ENST00000265562,;SCAP,downstream_gene_variant,,ENST00000545718,;SCAP,downstream_gene_variant,,ENST00000441517,;SCAP,downstream_gene_variant,,ENST00000265565,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;SCAP,downstream_gene_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000495653,;	4069	153	199	SUCCESS
USP19	10869	.	GRCh37	3	49153563	49153563	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	69	90	0	ENST00000398888.2:c.1085G>A	p.Cys362Tyr	p.C362Y	ENST00000398888	NM_006677.2	362	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS56254.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAACAGAAG	NONE	.	.	PROSITE_profiles:PS51203,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Gene3D:2.60.40.790,Pfam_domain:PF04969,Superfamily_domains:SSF49764	.	.	ENSP00000401197	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.357)	.	tolerated(1)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Cys463Tyr,ENST00000417901,;USP19,missense_variant,p.Cys400Tyr,ENST00000398892,;USP19,missense_variant,p.Cys453Tyr,ENST00000453664,;USP19,missense_variant,p.Cys463Tyr,ENST00000434032,;USP19,missense_variant,p.Cys362Tyr,ENST00000398888,;USP19,missense_variant,p.Cys400Tyr,ENST00000398898,;USP19,missense_variant,p.Cys168Tyr,ENST00000398896,;USP19,missense_variant,p.Cys448Tyr,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;LAMB2,downstream_gene_variant,,ENST00000418109,;USP19,non_coding_transcript_exon_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000465902,;LAMB2,downstream_gene_variant,,ENST00000484713,;LAMB2,downstream_gene_variant,,ENST00000467506,;	1600	90	153	SUCCESS
MAD2L1	4085	.	GRCh37	4	120982128	120982128	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	100	0	ENST00000296509.6:c.346C>A	p.Pro116Thr	p.P116T	ENST00000296509	NM_002358.3	116	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3715.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGTGCAC	NONE	.	.	PROSITE_profiles:PS50815,hmmpanther:PTHR11842,hmmpanther:PTHR11842:SF11,Pfam_domain:PF02301,Gene3D:1go4B00,Superfamily_domains:0040144	.	.	ENSP00000296509	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000296509	Transcript	.	.	ENSG00000164109	6763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	MD2L1_HUMAN	MAD2L1	HGNC	.	.	UPI0000000A29	SNV	MAD2L1,missense_variant,p.Pro116Thr,ENST00000296509,;MAD2L1,missense_variant,p.His26Gln,ENST00000504707,;MAD2L1,missense_variant,p.His75Gln,ENST00000333047,;MAD2L1,non_coding_transcript_exon_variant,,ENST00000512484,;MAD2L1,downstream_gene_variant,,ENST00000511295,;	686	100	138	SUCCESS
TRIML1	339976	.	GRCh37	4	189065204	189065204	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	82	0	ENST00000332517.3:c.773T>A	p.Leu258Ter	p.L258*	ENST00000332517	NM_178556.3	258	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS3851.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTGCTTC	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291	.	.	ENSP00000327738	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000332517	Transcript	.	.	ENSG00000184108	26698	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIML_HUMAN	TRIML1	HGNC	.	.	UPI000006FC8A	SNV	TRIML1,stop_gained,p.Leu258Ter,ENST00000332517,;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,;TRIML1,non_coding_transcript_exon_variant,,ENST00000512233,;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,;	913	82	72	SUCCESS
G3BP2	9908	.	GRCh37	4	76579227	76579227	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	24	49	0	ENST00000359707.4:c.765T>G	p.Pro255=	p.P255=	ENST00000359707	NM_203505.2	255	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3571.1	765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGAGGCAG	NONE	.	.	hmmpanther:PTHR10693,hmmpanther:PTHR10693:SF10	.	.	ENSP00000352738	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000359707	Transcript	.	.	ENSG00000138757	30291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G3BP2_HUMAN	G3BP2	HGNC	D6RGJ4_HUMAN,D6REX8_HUMAN,D6RE13_HUMAN,D6RBW8_HUMAN,D6RBR0_HUMAN,D6RBM9_HUMAN,D6RB17_HUMAN,D6RAC7_HUMAN,D6R9X5_HUMAN,D6R9A4_HUMAN	.	UPI000013D588	SNV	G3BP2,synonymous_variant,p.%3D,ENST00000395719,;G3BP2,synonymous_variant,p.%3D,ENST00000359707,;G3BP2,intron_variant,,ENST00000357854,;G3BP2,downstream_gene_variant,,ENST00000511146,;G3BP2,downstream_gene_variant,,ENST00000509100,;G3BP2,downstream_gene_variant,,ENST00000515457,;G3BP2,downstream_gene_variant,,ENST00000508510,;G3BP2,downstream_gene_variant,,ENST00000509561,;G3BP2,downstream_gene_variant,,ENST00000507252,;G3BP2,downstream_gene_variant,,ENST00000503660,;G3BP2,downstream_gene_variant,,ENST00000499709,;G3BP2,downstream_gene_variant,,ENST00000507745,;G3BP2,downstream_gene_variant,,ENST00000511868,;G3BP2,downstream_gene_variant,,ENST00000513927,;G3BP2,downstream_gene_variant,,ENST00000502654,;G3BP2,downstream_gene_variant,,ENST00000510902,;G3BP2,downstream_gene_variant,,ENST00000507947,;G3BP2,upstream_gene_variant,,ENST00000507133,;	1551	49	36	SUCCESS
WDFY3	23001	.	GRCh37	4	85711036	85711036	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	72	125	0	ENST00000295888.4:c.3512C>T	p.Ser1171Leu	p.S1171L	ENST00000295888	NM_014991.4	1171	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS3609.1	3512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGAGGAC	NONE	.	.	Superfamily_domains:SSF49899,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	22/68	.	.	.	.	.	.	.	.	.	22/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.14)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Ser1171Leu,ENST00000295888,;WDFY3,missense_variant,p.Ser1171Leu,ENST00000322366,;	3920	126	100	SUCCESS
PCDHGA11	56105	.	GRCh37	5	140803121	140803121	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1383467583	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	48	107	0	ENST00000398587.2:c.2327A>G	p.Tyr776Cys	p.Y776C	ENST00000398587	NM_032092.1	776	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS47294.1	2327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTATGGGG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF84	.	.	ENSP00000381589	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398587	Transcript	.	.	ENSG00000253873	8698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	deleterious_low_confidence(0.05)	.	PCDGB_HUMAN	PCDHGA11	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000739DC	SNV	PCDHGA11,missense_variant,p.Tyr776Cys,ENST00000398587,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,upstream_gene_variant,,ENST00000502926,;PCDHGB8P,upstream_gene_variant,,ENST00000507007,;	2360	107	135	SUCCESS
SPEF2	79925	.	GRCh37	5	35793440	35793440	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	69	143	0	ENST00000356031.3:c.4734G>T	p.Met1578Ile	p.M1578I	ENST00000356031	NM_024867.3	1578	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS43309.1	4734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATGCAGGT	NONE	.	.	hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Superfamily_domains:SSF47473	.	.	ENSP00000348314	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.17)	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,missense_variant,p.Met1573Ile,ENST00000440995,;SPEF2,missense_variant,p.Met375Ile,ENST00000303129,;SPEF2,missense_variant,p.Met1578Ile,ENST00000356031,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;	4888	143	187	SUCCESS
SLC38A9	153129	.	GRCh37	5	54952566	54952566	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	73	0	ENST00000318672.3:c.734T>G	p.Leu245Arg	p.L245R	ENST00000318672		245	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS3968.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCAGTATA	NONE	.	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF118	.	.	ENSP00000380074	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000396865	Transcript	.	.	ENSG00000177058	26907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.362)	.	tolerated(0.35)	.	S38A9_HUMAN	SLC38A9	HGNC	E7ESU6_HUMAN,D6RIW7_HUMAN,D6RHW0_HUMAN,D6RG31_HUMAN,D6RER8_HUMAN,D6RDH2_HUMAN,D6R9X0_HUMAN,B3KVK8_HUMAN	.	UPI00001403C2	SNV	SLC38A9,missense_variant,p.Leu245Arg,ENST00000539768,;SLC38A9,missense_variant,p.Leu182Arg,ENST00000512208,;SLC38A9,missense_variant,p.Leu245Arg,ENST00000396865,;SLC38A9,missense_variant,p.Leu121Arg,ENST00000416547,;SLC38A9,missense_variant,p.Leu218Arg,ENST00000512595,;SLC38A9,missense_variant,p.Leu182Arg,ENST00000515629,;SLC38A9,missense_variant,p.Leu245Arg,ENST00000318672,;SLC38A9,intron_variant,,ENST00000511233,;SLC38A9,non_coding_transcript_exon_variant,,ENST00000524030,;SLC38A9,missense_variant,p.Leu182Arg,ENST00000505708,;SLC38A9,3_prime_UTR_variant,,ENST00000508124,;SLC38A9,non_coding_transcript_exon_variant,,ENST00000515159,;SLC38A9,downstream_gene_variant,,ENST00000524154,;	1326	73	95	SUCCESS
NR2F1	7025	.	GRCh37	5	92929524	92929524	+	synonymous_variant	Silent	SNP	T	T	C	rs753642534	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	55	0	ENST00000327111.3:c.1248T>C	p.Pro416=	p.P416=	ENST00000327111	NM_005654.4	416	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4068.1	1248	MUTECT|MUSE	.	TGGCCTTACAT	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF46,Prints_domain:PR01282	.	.	ENSP00000325819	.	3/3	.	.	.	.	.	.	.	.	rs753642534	3/3	PASS	ENST00000327111	Transcript	1	.	ENSG00000175745	7975	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COT1_HUMAN	NR2F1	HGNC	.	.	UPI0000000C58	SNV	NR2F1,synonymous_variant,p.%3D,ENST00000327111,;NR2F1,non_coding_transcript_exon_variant,,ENST00000506162,;	2935	55	78	SUCCESS
LAMA2	3908	.	GRCh37	6	129571345	129571345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	54	47	0	ENST00000421865.2:c.1871T>C	p.Met624Thr	p.M624T	ENST00000421865	NM_001079823.1	624	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS5138.1	1871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTATGATTA	NONE	.	.	PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Pfam_domain:PF00052,SMART_domains:SM00281	.	.	ENSP00000400365	.	13/65	.	.	.	.	.	.	.	.	.	13/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.01)	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Met624Thr,ENST00000421865,;	1920	47	92	SUCCESS
CDKN1A	1026	.	GRCh37	6	36652024	36652024	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	38	25	0	ENST00000244741.5:c.146G>T	p.Trp49Leu	p.W49L	ENST00000244741	NM_000389.4	49	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS4824.1	146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGATGGAACT	CODON|p.W49*|c.146G>A|4	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16,Pfam_domain:PF02234,Gene3D:1jsuC00	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	COSM254605,COSM4006484	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,missense_variant,p.Trp49Leu,ENST00000244741,;CDKN1A,missense_variant,p.Trp49Leu,ENST00000373711,;CDKN1A,missense_variant,p.Trp83Leu,ENST00000448526,;CDKN1A,missense_variant,p.Trp49Leu,ENST00000405375,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	381	25	65	SUCCESS
MRPL2	51069	.	GRCh37	6	43027209	43027209	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	22	0	ENST00000388752.3:c.-90C>G		p.*30*	ENST00000388752	NM_015950.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34454.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAGGAGGC	NONE	.	.	.	.	.	ENSP00000373404	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000388752	Transcript	.	.	ENSG00000112651	14056	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM02_HUMAN	MRPL2	HGNC	.	.	UPI000006FF26	SNV	MRPL2,5_prime_UTR_variant,,ENST00000388752,;MRPL2,upstream_gene_variant,,ENST00000468957,;KLC4,upstream_gene_variant,,ENST00000470728,;MRPL2,upstream_gene_variant,,ENST00000489623,;KLC4,upstream_gene_variant,,ENST00000479388,;KLC4,upstream_gene_variant,,ENST00000453940,;KLC4,upstream_gene_variant,,ENST00000394056,;KLC4,upstream_gene_variant,,ENST00000259708,;KLC4,upstream_gene_variant,,ENST00000481888,;KLC4,upstream_gene_variant,,ENST00000479632,;KLC4,upstream_gene_variant,,ENST00000472792,;KLC4,upstream_gene_variant,,ENST00000458460,;KLC4,upstream_gene_variant,,ENST00000347162,;KLC4,upstream_gene_variant,,ENST00000394058,;KLC4,upstream_gene_variant,,ENST00000460283,;MRPL2,upstream_gene_variant,,ENST00000487429,;MRPL2,upstream_gene_variant,,ENST00000230413,;KLC4,5_prime_UTR_variant,,ENST00000467906,;MRPL2,upstream_gene_variant,,ENST00000485654,;MRPL2,upstream_gene_variant,,ENST00000470667,;MRPL2,upstream_gene_variant,,ENST00000491898,;KLC4,upstream_gene_variant,,ENST00000481499,;MRPL2,upstream_gene_variant,,ENST00000480286,;KLC4,upstream_gene_variant,,ENST00000472172,;	336	22	30	SUCCESS
KLHL32	114792	.	GRCh37	6	97562045	97562045	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	41	0	ENST00000369261.4:c.1014C>A	p.His338Gln	p.H338Q	ENST00000369261	NM_052904.3	338	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS5038.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCATTG	NONE	.	.	Superfamily_domains:0052715,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Pfam_domain:PF13964,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(1)	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,missense_variant,p.His269Gln,ENST00000539200,;KLHL32,missense_variant,p.His302Gln,ENST00000536676,;KLHL32,missense_variant,p.His338Gln,ENST00000369261,;KLHL32,3_prime_UTR_variant,,ENST00000447886,;KLHL32,intron_variant,,ENST00000369254,;KLHL32,intron_variant,,ENST00000544166,;	1377	41	77	SUCCESS
TAS2R41	259287	.	GRCh37	7	143175217	143175217	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	75	0	ENST00000408916.1:c.252C>T	p.Phe84=	p.F84=	ENST00000408916	NM_176883.2	84	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS43663.1	252	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCTTCCA	BUFFER|p.R82*|c.244C>T|3	.	.	hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000386201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408916	Transcript	.	.	ENSG00000221855	18883	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T2R41_HUMAN	TAS2R41	HGNC	.	.	UPI000000D823	SNV	TAS2R41,synonymous_variant,p.%3D,ENST00000408916,;EPHA1-AS1,intron_variant,,ENST00000429289,;	252	75	82	SUCCESS
PCLO	27445	.	GRCh37	7	82784756	82784756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	70	131	0	ENST00000333891.9:c.1201C>A	p.Pro401Thr	p.P401T	ENST00000333891	NM_033026.5	401	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47630.1	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGAGTCT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro401Thr,ENST00000333891,;PCLO,missense_variant,p.Pro401Thr,ENST00000423517,;	1539	131	190	SUCCESS
CSMD3	114788	.	GRCh37	8	113668402	113668402	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	65	0	ENST00000297405.5:c.2985T>C	p.Gly995=	p.G995=	ENST00000297405	NM_198123.1	995	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS6315.1	2985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAACCATT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	18/71	.	.	.	.	.	.	.	.	.	18/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	3230	65	101	SUCCESS
PTK2	5747	.	GRCh37	8	141684416	141684416	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	67	0	ENST00000521059.1:c.2690G>A	p.Ser897Asn	p.S897N	ENST00000521059	NM_005607.4	897	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS56557.1	2720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGCTGTCA	NONE	.	.	hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418	.	.	ENSP00000341189	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	tolerated(0.12)	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,missense_variant,p.Ser565Asn,ENST00000538769,;PTK2,missense_variant,p.Ser525Asn,ENST00000519465,;PTK2,missense_variant,p.Ser862Asn,ENST00000519654,;PTK2,missense_variant,p.Ser897Asn,ENST00000521059,;PTK2,missense_variant,p.Ser907Asn,ENST00000340930,;PTK2,missense_variant,p.Ser941Asn,ENST00000519419,;PTK2,missense_variant,p.Ser907Asn,ENST00000395218,;PTK2,missense_variant,p.Ser207Asn,ENST00000430260,;PTK2,missense_variant,p.Ser851Asn,ENST00000535192,;PTK2,missense_variant,p.Ser595Asn,ENST00000521986,;PTK2,missense_variant,p.Ser569Asn,ENST00000523539,;PTK2,missense_variant,p.Ser941Asn,ENST00000517887,;PTK2,missense_variant,p.Ser897Asn,ENST00000522684,;PTK2,upstream_gene_variant,,ENST00000517712,;PTK2,non_coding_transcript_exon_variant,,ENST00000523805,;PTK2,non_coding_transcript_exon_variant,,ENST00000520460,;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000519993,;	2875	67	70	SUCCESS
FAM83H	286077	.	GRCh37	8	144808725	144808725	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	30	0	ENST00000388913.3:c.2906T>G	p.Leu969Arg	p.L969R	ENST00000388913	NM_198488.3	969	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS6410.2	2906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTAAGACGC	NONE	.	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	.	.	ENSP00000373565	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.602)	.	deleterious(0)	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,missense_variant,p.Leu969Arg,ENST00000388913,;MAPK15,downstream_gene_variant,,ENST00000338033,;FAM83H,missense_variant,p.Leu696Arg,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000528175,;MAPK15,downstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000484654,;	3032	30	53	SUCCESS
KIF13B	23303	.	GRCh37	8	28971063	28971063	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767563825	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	27	0	ENST00000524189.1:c.3847C>G	p.Gln1283Glu	p.Q1283E	ENST00000524189	NM_015254.3	1283	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS55217.1	3847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGTGCAA	NONE	byFrequency	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF338	.	.	ENSP00000427900	.	32/40	.	.	.	.	.	.	.	.	rs767563825	32/40	PASS	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	tolerated(0.22)	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,missense_variant,p.Gln1283Glu,ENST00000524189,;CTD-2647L4.1,intron_variant,,ENST00000523661,;	3886	27	52	SUCCESS
MUSK	4593	.	GRCh37	9	113550088	113550088	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	46	72	0	ENST00000374448.4:c.1899del	p.Phe633LeufsTer7	p.F633Lfs*7	ENST00000374448	NM_005592.3	633	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS48005.1	1897	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGAATTTGAC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:3.30.200.20,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50011	.	.	ENSP00000363571	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	deletion	MUSK,frameshift_variant,p.Phe633LeufsTer7,ENST00000374448,;MUSK,frameshift_variant,p.Phe149LeufsTer7,ENST00000374438,;MUSK,frameshift_variant,p.Phe633LeufsTer7,ENST00000189978,;MUSK,frameshift_variant,p.Phe625LeufsTer7,ENST00000416899,;	2031	72	156	SUCCESS
ORM1	5004	.	GRCh37	9	117086007	117086007	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	135	196	0	ENST00000259396.8:c.179A>T	p.Gln60Leu	p.Q60L	ENST00000259396	NM_000607.2	60	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6803.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGGAGA	NONE	.	.	hmmpanther:PTHR11967,hmmpanther:PTHR11967:SF2,Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036899,Superfamily_domains:SSF50814,Prints_domain:PR00708	.	.	ENSP00000259396	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000259396	Transcript	.	.	ENSG00000229314	8498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.08)	.	A1AG1_HUMAN	ORM1	HGNC	.	.	UPI0000052DC8	SNV	ORM1,missense_variant,p.Gln60Leu,ENST00000259396,;ORM1,3_prime_UTR_variant,,ENST00000538816,;ORM1,upstream_gene_variant,,ENST00000477456,;	257	196	307	SUCCESS
ENG	2022	.	GRCh37	9	130587248	130587248	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	32	0	ENST00000373203.4:c.822T>A	p.Thr274=	p.T274=	ENST00000373203	NM_000118.3	274	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS48029.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGTGGT	NONE	.	.	hmmpanther:PTHR14002:SF1,hmmpanther:PTHR14002	.	.	ENSP00000362299	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000373203	Transcript	.	.	ENSG00000106991	3349	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGLN_HUMAN	ENG	HGNC	Q71V36_HUMAN,F5GX88_HUMAN	.	UPI0000129E00	SNV	ENG,synonymous_variant,p.%3D,ENST00000344849,;ENG,synonymous_variant,p.%3D,ENST00000373203,;RP11-228B15.4,downstream_gene_variant,,ENST00000439298,;RP11-228B15.4,downstream_gene_variant,,ENST00000425991,;ENG,non_coding_transcript_exon_variant,,ENST00000480266,;ENG,downstream_gene_variant,,ENST00000462196,;ENG,upstream_gene_variant,,ENST00000486329,;	1223	32	38	SUCCESS
LRRC19	64922	.	GRCh37	9	26995539	26995539	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	54	0	ENST00000380055.5:c.1093G>T	p.Glu365Ter	p.E365*	ENST00000380055	NM_022901.2	365	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6518.1	1093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTCATGGA	NONE	.	.	Pfam_domain:PF15176	.	.	ENSP00000369395	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000380055	Transcript	.	.	ENSG00000184434	23379	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC19_HUMAN	LRRC19	HGNC	.	.	UPI000006E34A	SNV	LRRC19,stop_gained,p.Glu365Ter,ENST00000380055,;IFT74,intron_variant,,ENST00000429045,;IFT74,intron_variant,,ENST00000380062,;IFT74,intron_variant,,ENST00000443698,;IFT74,intron_variant,,ENST00000433700,;LRRC19,non_coding_transcript_exon_variant,,ENST00000482770,;	1204	54	84	SUCCESS
RP11-262H14.3	0	.	GRCh37	9	66553883	66553883	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	115	0	ENST00000445604.2:n.29C>A		p.*10*	ENST00000445604				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|VARSCANS	.	GCCATGTTTGT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305709	Transcript	.	.	ENSG00000170161	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-262H14.4	Clone_based_vega_gene	.	.	.	SNV	RP11-262H14.4,non_coding_transcript_exon_variant,,ENST00000305709,;RP11-262H14.3,non_coding_transcript_exon_variant,,ENST00000445604,;RP11-262H14.4,intron_variant,,ENST00000476224,;RP11-262H14.4,upstream_gene_variant,,ENST00000467494,;RP11-262H14.3,upstream_gene_variant,,ENST00000585533,;RP11-262H14.3,upstream_gene_variant,,ENST00000591993,;	496	115	121	SUCCESS
C9orf85	138241	.	GRCh37	9	74586499	74586499	+	synonymous_variant	Silent	SNP	C	C	T	rs759417825	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	41	0	ENST00000377031.3:c.288C>T	p.Cys96=	p.C96=	ENST00000377031		96	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS6639.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGCGCAAA	NONE	byFrequency	.	hmmpanther:PTHR22876:SF5,hmmpanther:PTHR22876,Pfam_domain:PF10217	.	.	ENSP00000334289	.	3/4	.	.	.	.	.	.	.	.	rs759417825	3/4	PASS	ENST00000334731	Transcript	.	.	ENSG00000155621	28784	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI085_HUMAN	C9orf85	HGNC	F6X0R3_HUMAN	.	UPI0000197C73	SNV	C9orf85,synonymous_variant,p.%3D,ENST00000377031,;C9orf85,synonymous_variant,p.%3D,ENST00000334731,;C9orf85,intron_variant,,ENST00000486911,;C9orf85,3_prime_UTR_variant,,ENST00000377027,;C9orf85,3_prime_UTR_variant,,ENST00000473252,;C9orf85,3_prime_UTR_variant,,ENST00000479413,;	478	41	59	SUCCESS
AFF2	2334	.	GRCh37	X	148037577	148037577	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	34	27	0	ENST00000370460.2:c.2002A>G	p.Arg668Gly	p.R668G	ENST00000370460	NM_002025.3	668	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS14684.1	2002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAGAGGC	NONE	.	.	hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Arg668Gly,ENST00000370460,;AFF2,missense_variant,p.Arg635Gly,ENST00000342251,;AFF2,missense_variant,p.Arg309Gly,ENST00000286437,;AFF2,missense_variant,p.Arg635Gly,ENST00000370457,;	2481	27	41	SUCCESS
TAF1	6872	.	GRCh37	X	70604840	70604840	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	72	66	0	ENST00000373790.4:c.2164A>G	p.Thr722Ala	p.T722A	ENST00000373790	NM_004606.3	722	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14412.1	2227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAACTGTT	NONE	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.Thr722Ala,ENST00000373790,;TAF1,missense_variant,p.Thr722Ala,ENST00000449580,;TAF1,missense_variant,p.Thr743Ala,ENST00000276072,;TAF1,missense_variant,p.Thr743Ala,ENST00000423759,;TAF1,upstream_gene_variant,,ENST00000478305,;TAF1,upstream_gene_variant,,ENST00000474917,;TAF1,upstream_gene_variant,,ENST00000472567,;	2237	66	91	SUCCESS
NAP1L3	4675	.	GRCh37	X	92928310	92928310	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	20	0	ENST00000373079.3:c.-7T>C		p.*3*	ENST00000373079	NM_004538.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14465.1	.	RADIA|MUSE|VARSCANS	.	TTGCAAGCCTA	NONE	.	.	.	.	.	ENSP00000362171	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373079	Transcript	.	.	ENSG00000186310	7639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NP1L3_HUMAN	NAP1L3	HGNC	.	.	UPI0000167B31	SNV	NAP1L3,5_prime_UTR_variant,,ENST00000373079,;NAP1L3,intron_variant,,ENST00000475430,;FAM133A,upstream_gene_variant,,ENST00000355813,;FAM133A,upstream_gene_variant,,ENST00000538690,;FAM133A,upstream_gene_variant,,ENST00000332647,;FAM133A,upstream_gene_variant,,ENST00000322139,;	258	20	27	SUCCESS
LOXL4	84171	.	GRCh37	10	100013493	100013493	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375427147	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	38	0	ENST00000260702.3:c.1652G>A	p.Arg551His	p.R551H	ENST00000260702	NM_032211.6	551	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7473.1	1652	RADIA|MUTECT|MUSE	.	GCGGGCGGTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,Pfam_domain:PF01186,Prints_domain:PR00074	.	T:0.0001	ENSP00000260702	.	11/15	.	.	.	.	.	.	.	.	rs375427147	11/15	PASS	ENST00000260702	Transcript	.	.	ENSG00000138131	17171	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LOXL4_HUMAN	LOXL4	HGNC	.	.	UPI0000046706	SNV	LOXL4,missense_variant,p.Arg551His,ENST00000260702,;RP11-34A14.3,intron_variant,,ENST00000433374,;	1803	38	32	SUCCESS
MSRB2	22921	.	GRCh37	10	23393130	23393130	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs201493683	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	22	93	0	ENST00000376510.3:c.176C>G	p.Thr59Ser	p.T59S	ENST00000376510	NM_012228.3	59	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS41495.1	176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAACCCCGG	BUFFER|p.K56N|c.168G>T|3	.	.	Superfamily_domains:SSF51316,TIGRFAM_domain:TIGR00357,Gene3D:2.170.150.20,Pfam_domain:PF01641,hmmpanther:PTHR10173:SF18,hmmpanther:PTHR10173	.	.	ENSP00000365693	.	2/5	.	.	.	.	.	.	.	.	rs201493683	2/5	PASS	ENST00000376510	Transcript	.	.	ENSG00000148450	17061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.234)	.	deleterious(0.03)	.	MSRB2_HUMAN	MSRB2	HGNC	.	.	UPI0000169923	SNV	MSRB2,missense_variant,p.Thr59Ser,ENST00000376510,;MSRB2,missense_variant,p.Thr20Ser,ENST00000472663,;	279	93	105	SUCCESS
AMPD3	272	.	GRCh37	11	10503698	10503698	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754636700	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	47	0	ENST00000396553.2:c.515G>T	p.Arg172Leu	p.R172L	ENST00000396553	NM_001025389.1	172	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7802.1	542	MUTECT|MUSE|VARSCANS	.	CCACCGCTTCC	NONE	byFrequency	.	hmmpanther:PTHR11359:SF2,hmmpanther:PTHR11359,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	.	.	ENSP00000379802	.	4/15	.	.	.	.	.	.	.	.	rs754636700	4/15	PASS	ENST00000396554	Transcript	.	.	ENSG00000133805	470	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.438)	.	deleterious(0.02)	.	AMPD3_HUMAN	AMPD3	HGNC	E9PPG2_HUMAN,E9PLK6_HUMAN	.	UPI0000161AFD	SNV	AMPD3,missense_variant,p.Arg172Leu,ENST00000396553,;AMPD3,missense_variant,p.Arg172Leu,ENST00000524866,;AMPD3,missense_variant,p.Arg181Leu,ENST00000396554,;AMPD3,missense_variant,p.Arg172Leu,ENST00000529507,;AMPD3,missense_variant,p.Arg179Leu,ENST00000528723,;AMPD3,missense_variant,p.Arg13Leu,ENST00000444303,;AMPD3,downstream_gene_variant,,ENST00000532250,;AMPD3,non_coding_transcript_exon_variant,,ENST00000529835,;AMPD3,missense_variant,p.Arg181Leu,ENST00000534047,;AMPD3,missense_variant,p.Arg172Leu,ENST00000529834,;AMPD3,non_coding_transcript_exon_variant,,ENST00000531227,;	883	48	62	SUCCESS
NCAM1	4684	.	GRCh37	11	113085206	113085206	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	9	76	0	ENST00000316851.7:c.1002T>A	p.Ser334=	p.S334=	ENST00000316851	NM_181351.4	334	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	.	1209	MUTECT|MUSE|VARSCANS	.	ACTTCTACCCG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,PROSITE_profiles:PS50835	.	.	ENSP00000474028	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,synonymous_variant,p.%3D,ENST00000534015,;NCAM1,synonymous_variant,p.%3D,ENST00000533760,;NCAM1,synonymous_variant,p.%3D,ENST00000524665,;NCAM1,synonymous_variant,p.%3D,ENST00000401611,;NCAM1,synonymous_variant,p.%3D,ENST00000316851,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529420,;NCAM1,non_coding_transcript_exon_variant,,ENST00000528742,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,intron_variant,,ENST00000526427,;	1209	76	106	SUCCESS
TECTA	7007	.	GRCh37	11	121058616	121058616	+	synonymous_variant	Silent	SNP	C	C	T	rs559874132	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	87	0	ENST00000264037.2:c.6075C>T	p.Thr2025=	p.T2025=	ENST00000264037	NM_005422.2	2025	acC/acT	0	.	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS8434.1	6075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACCGTCTT	NONE	by1000G	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR11339,PROSITE_profiles:PS51034	T:0	.	ENSP00000376543	T:0	21/24	.	.	.	.	.	.	.	.	rs559874132	21/24	PASS	ENST00000392793	Transcript	.	T:0.0002	ENSG00000109927	11720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,synonymous_variant,p.%3D,ENST00000264037,;TECTA,synonymous_variant,p.%3D,ENST00000392793,;	6346	87	86	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123489856	123489856	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs148264959	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	40	0	ENST00000529750.1:c.2053del	p.Gln685AsnfsTer20	p.Q685Nfs*20	ENST00000529750	NM_020716.1	684	tCc/tc	0	T:0.0029	T:0.0023	.	T:0	.	-	S/X	protein_coding	YES	CCDS53720.1	2051	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGAGTCCCAAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	T:0	T:0.0001	ENSP00000436500	T:0	19/20	.	.	.	.	.	.	.	.	rs148264959	19/20	PASS	ENST00000529750	Transcript	.	T:0.0006	ENSG00000023171	29214	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	deletion	GRAMD1B,frameshift_variant,p.Gln685AsnfsTer20,ENST00000322282,;GRAMD1B,frameshift_variant,p.Gln692AsnfsTer20,ENST00000456860,;GRAMD1B,frameshift_variant,p.Gln372AsnfsTer20,ENST00000450171,;GRAMD1B,frameshift_variant,p.Gln645AsnfsTer20,ENST00000529432,;GRAMD1B,frameshift_variant,p.Gln685AsnfsTer20,ENST00000529750,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000525945,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;	2378	40	58	SUCCESS
OPCML	4978	.	GRCh37	11	132527021	132527021	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	49	167	0	ENST00000331898.7:c.361A>T	p.Asn121Tyr	p.N121Y	ENST00000331898	NM_002545.3	121	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8492.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATTGTCTG	BUFFER|p.H122Y|c.364C>T|3,BUFFER|p.V117A|c.350T>C|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831,PROSITE_profiles:PS50835	.	.	ENSP00000330862	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000331898	Transcript	.	.	ENSG00000183715	8143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.01)	.	OPCM_HUMAN	OPCML	HGNC	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN	.	UPI0000055AE0	SNV	OPCML,missense_variant,p.Asn80Tyr,ENST00000374778,;OPCML,missense_variant,p.Asn121Tyr,ENST00000541867,;OPCML,missense_variant,p.Asn114Tyr,ENST00000524381,;OPCML,missense_variant,p.Asn121Tyr,ENST00000331898,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;OPCML,non_coding_transcript_exon_variant,,ENST00000525412,;	940	167	225	SUCCESS
OR51G2	81282	.	GRCh37	11	4936238	4936238	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	31	99	0	ENST00000322013.3:c.656T>G	p.Ile219Ser	p.I219S	ENST00000322013	NM_001005238.1	219	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS31365.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGATGAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF133,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322593	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322013	Transcript	.	.	ENSG00000176893	15198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O51G2_HUMAN	OR51G2	HGNC	.	.	UPI0000041C2F	SNV	OR51G2,missense_variant,p.Ile219Ser,ENST00000322013,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	685	99	114	SUCCESS
OR51I1	390063	.	GRCh37	11	5462447	5462447	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768802107	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	36	88	0	ENST00000380211.1:c.298C>A	p.Leu100Met	p.L100M	ENST00000380211	NM_001005288.2	100	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS31382.1	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGCAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF66,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000369559	.	1/1	.	.	.	.	.	.	.	.	rs768802107,COSM689041	1/1	PASS	ENST00000380211	Transcript	.	.	ENSG00000167359	15200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	tolerated(0.14)	0,1	O51I1_HUMAN	OR51I1	HGNC	.	.	UPI0000041CD0	SNV	OR51I1,missense_variant,p.Leu100Met,ENST00000380211,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	298	88	133	SUCCESS
KDM2A	22992	.	GRCh37	11	66982895	66982895	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	61	0	ENST00000529006.2:c.571A>T	p.Met191Leu	p.M191L	ENST00000529006	NM_012308.2	191	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS44657.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGATGCAG	NONE	.	.	Superfamily_domains:SSF51197,SMART_domains:SM00558,Gene3D:1vrbA01,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,PROSITE_profiles:PS51184	.	.	ENSP00000432786	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000529006	Transcript	.	.	ENSG00000173120	13606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	KDM2A_HUMAN	KDM2A	HGNC	I3VM54_HUMAN,I3VM53_HUMAN	.	UPI00001678A9	SNV	KDM2A,missense_variant,p.Met191Leu,ENST00000398645,;KDM2A,missense_variant,p.Met191Leu,ENST00000529006,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000528380,;KDM2A,upstream_gene_variant,,ENST00000531696,;KDM2A,upstream_gene_variant,,ENST00000525379,;	1017	61	78	SUCCESS
TENM4	26011	.	GRCh37	11	78775891	78775891	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs922258177	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	40	0	ENST00000278550.7:c.385G>A	p.Val129Met	p.V129M	ENST00000278550	NM_001098816.2	129	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS44688.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCACGGGGT	NONE	.	.	Pfam_domain:PF06484,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219,PROSITE_profiles:PS51361	.	.	ENSP00000278550	.	6/34	.	.	.	.	.	.	.	.	.	6/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated_low_confidence(0.8)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Val129Met,ENST00000278550,;TENM4,downstream_gene_variant,,ENST00000533038,;TENM4,non_coding_transcript_exon_variant,,ENST00000532654,;	848	40	44	SUCCESS
CHORDC1	26973	.	GRCh37	11	89956173	89956173	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs752236996	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	55	0	ENST00000320585.6:c.-51C>T		p.*17*	ENST00000320585	NM_012124.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8289.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGGATGC	NONE	.	.	.	.	.	ENSP00000319255	.	1/11	.	.	.	.	.	.	.	.	rs752236996	1/11	PASS	ENST00000320585	Transcript	.	.	ENSG00000110172	14525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHRD1_HUMAN	CHORDC1	HGNC	E9PHZ2_HUMAN	.	UPI000013F1A2	SNV	CHORDC1,5_prime_UTR_variant,,ENST00000530765,;CHORDC1,5_prime_UTR_variant,,ENST00000320585,;CHORDC1,5_prime_UTR_variant,,ENST00000457199,;CHORDC1,5_prime_UTR_variant,,ENST00000529402,;CHORDC1,5_prime_UTR_variant,,ENST00000525317,;CHORDC1,5_prime_UTR_variant,,ENST00000533062,;CHORDC1,5_prime_UTR_variant,,ENST00000533772,;CHORDC1,non_coding_transcript_exon_variant,,ENST00000533739,;CHORDC1,non_coding_transcript_exon_variant,,ENST00000533724,;	360	55	72	SUCCESS
FAT3	120114	.	GRCh37	11	92616495	92616495	+	synonymous_variant	Silent	SNP	C	C	A	rs754156054	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	31	0	ENST00000298047.6:c.12873C>A	p.Ala4291=	p.A4291=	ENST00000298047		4291	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	.	12873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCGTGTC	BUFFER|p.N863T|c.2588A>C|3,BUFFER|p.L4289P|c.12866T>C|3,BUFFER|p.L4289P|c.12866T>C|3,BUFFER|p.L864P|c.2591T>C|4	byFrequency	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	23/27	.	.	.	.	.	.	.	.	rs754156054	23/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000533797,;FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;FAT3,non_coding_transcript_exon_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	12890	31	22	SUCCESS
FAIM2	23017	.	GRCh37	12	50281167	50281167	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	28	0	ENST00000320634.3:c.801+2T>A		p.X267_splice	ENST00000320634	NM_012306.3	267		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8791.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCACCAAT	NONE	.	.	.	.	.	ENSP00000321951	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320634	Transcript	.	.	ENSG00000135472	17067	.	.	HIGH	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LFG2_HUMAN	FAIM2	HGNC	F8VV65_HUMAN,B3KR08_HUMAN	.	UPI0000072B0C	SNV	FAIM2,splice_donor_variant,,ENST00000550890,;FAIM2,splice_donor_variant,,ENST00000552669,;FAIM2,splice_donor_variant,,ENST00000320634,;FAIM2,intron_variant,,ENST00000552863,;FAIM2,downstream_gene_variant,,ENST00000550635,;FAIM2,downstream_gene_variant,,ENST00000547871,;FAIM2,splice_donor_variant,,ENST00000550195,;	.	28	46	SUCCESS
AQP5	362	.	GRCh37	12	50357929	50357929	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	11	74	0	ENST00000293599.6:c.583G>C	p.Val195Leu	p.V195L	ENST00000293599	NM_001651.3	195	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS8793.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGTCATG	NONE	.	.	hmmpanther:PTHR19139:SF38,hmmpanther:PTHR19139,Pfam_domain:PF00230,Gene3D:1.20.1080.10,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338,Prints_domain:PR02017	.	.	ENSP00000293599	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000293599	Transcript	.	.	ENSG00000161798	638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.16)	.	AQP5_HUMAN	AQP5	HGNC	.	.	UPI000004A0C9	SNV	AQP5,missense_variant,p.Val195Leu,ENST00000293599,;AQP6,upstream_gene_variant,,ENST00000551733,;RP11-469H8.6,upstream_gene_variant,,ENST00000550214,;RP11-469H8.6,upstream_gene_variant,,ENST00000552379,;RP11-469H8.6,upstream_gene_variant,,ENST00000550530,;AQP5,non_coding_transcript_exon_variant,,ENST00000553132,;AQP6,upstream_gene_variant,,ENST00000489786,;	731	74	90	SUCCESS
KRT86	3892	.	GRCh37	12	52699516	52699516	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	22	77	0	ENST00000293525.5:c.970G>T	p.Glu324Ter	p.E324*	ENST00000293525	NM_002284.3	324	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41785.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACGAGCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038	.	.	ENSP00000293525	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,stop_gained,p.Glu324Ter,ENST00000293525,;KRT86,stop_gained,p.Glu324Ter,ENST00000423955,;KRT86,stop_gained,p.Glu324Ter,ENST00000544024,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	1022	77	111	SUCCESS
ITGA7	3679	.	GRCh37	12	56088716	56088716	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1387208599	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	46	0	ENST00000555728.1:c.2174G>A	p.Gly725Glu	p.G725E	ENST00000555728		725	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS55832.1	2054	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCACTC	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	tolerated(0.22)	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,missense_variant,p.Gly588Glu,ENST00000452168,;ITGA7,missense_variant,p.Gly681Glu,ENST00000257879,;ITGA7,missense_variant,p.Gly685Glu,ENST00000394230,;ITGA7,missense_variant,p.Gly725Glu,ENST00000555728,;ITGA7,missense_variant,p.Gly685Glu,ENST00000553804,;ITGA7,missense_variant,p.Gly725Glu,ENST00000257880,;ITGA7,missense_variant,p.Gly675Glu,ENST00000347027,;ITGA7,missense_variant,p.Gly681Glu,ENST00000394229,;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,non_coding_transcript_exon_variant,,ENST00000557058,;ITGA7,intron_variant,,ENST00000554327,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,;ITGA7,downstream_gene_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000553276,;	2073	46	53	SUCCESS
LRP1	4035	.	GRCh37	12	57577928	57577928	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	10	61	0	ENST00000243077.3:c.5990C>T	p.Ser1997Phe	p.S1997F	ENST00000243077	NM_002332.2	1997	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS8932.1	5990	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCCTTCC	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	37/89	.	.	.	.	.	.	.	.	.	37/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Ser1997Phe,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000554118,;	6456	61	92	SUCCESS
PTPRQ	374462	.	GRCh37	12	81014071	81014071	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	33	156	0	ENST00000266688.5:c.5516T>A	p.Ile1839Asn	p.I1839N	ENST00000266688		1839	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	.	5516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACATCATAG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527	.	.	ENSP00000266688	.	37/50	.	.	.	.	.	.	.	.	.	37/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Ile1839Asn,ENST00000266688,;	5516	156	167	SUCCESS
HSPH1	10808	.	GRCh37	13	31724175	31724175	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764029701	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	8	207	0	ENST00000320027.5:c.1053G>T	p.Lys351Asn	p.K351N	ENST00000320027	NM_006644.2	351	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9340.1	1053	MUTECT|MUSE	.	CTTTCCTTCAC	NONE	byFrequency	.	hmmpanther:PTHR19375:SF18,hmmpanther:PTHR19375,PROSITE_patterns:PS01036,Gene3D:3.30.420.40,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301	.	.	ENSP00000318687	.	8/18	.	.	.	.	.	.	.	.	rs764029701	8/18	PASS	ENST00000320027	Transcript	.	.	ENSG00000120694	16969	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	HS105_HUMAN	HSPH1	HGNC	.	.	UPI0000001C62	SNV	HSPH1,missense_variant,p.Lys170Asn,ENST00000429785,;HSPH1,missense_variant,p.Lys351Asn,ENST00000320027,;HSPH1,missense_variant,p.Lys310Asn,ENST00000380406,;HSPH1,missense_variant,p.Lys353Asn,ENST00000445273,;HSPH1,missense_variant,p.Lys351Asn,ENST00000380405,;HSPH1,3_prime_UTR_variant,,ENST00000602786,;	1398	207	244	SUCCESS
ATP7B	540	.	GRCh37	13	52585489	52585489	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs749567460	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	67	0	ENST00000242839.4:c.-16G>T		p.*6*	ENST00000242839	NM_000053.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41892.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACACCGAAT	NONE	byFrequency	.	.	.	.	ENSP00000242839	.	1/21	.	.	.	.	.	.	.	.	rs749567460	1/21	PASS	ENST00000242839	Transcript	.	.	ENSG00000123191	870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP7B_HUMAN	ATP7B	HGNC	G1FFF2_HUMAN,D3KCZ0_HUMAN,C8BMD5_HUMAN,A6YQZ1_HUMAN	.	UPI00001FCE15	SNV	ATP7B,5_prime_UTR_variant,,ENST00000400370,;ATP7B,5_prime_UTR_variant,,ENST00000400366,;ATP7B,5_prime_UTR_variant,,ENST00000242839,;ATP7B,5_prime_UTR_variant,,ENST00000418097,;ATP7B,5_prime_UTR_variant,,ENST00000448424,;ATP7B,5_prime_UTR_variant,,ENST00000344297,;ALG11,upstream_gene_variant,,ENST00000523764,;ALG11,upstream_gene_variant,,ENST00000521508,;	142	67	87	SUCCESS
GPR132	29933	.	GRCh37	14	105517686	105517686	+	frameshift_variant	Frame_Shift_Ins	INS	A	A	TT	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	34	48	0	ENST00000329797.3:c.788delinsAA	p.Leu263GlnfsTer42	p.L263Qfs*42	ENST00000329797	NM_013345.3	263	cTc/cAAc	0	.	.	.	.	.	TT	L/QX	protein_coding	YES	CCDS9997.1	788	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTGACGAGGAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000328818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000329797	Transcript	.	.	ENSG00000183484	17482	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP132_HUMAN	GPR132	HGNC	A8K7X7_HUMAN	.	UPI0000050461	substitution	GPR132,frameshift_variant,p.Leu263GlnfsTer42,ENST00000329797,;GPR132,frameshift_variant,p.Leu263GlnfsTer42,ENST00000539291,;GPR132,frameshift_variant,p.Leu254GlnfsTer42,ENST00000392585,;GPR132,downstream_gene_variant,,ENST00000549990,;GPR132,downstream_gene_variant,,ENST00000546679,;GPR132,3_prime_UTR_variant,,ENST00000551869,;	1700	48	171	SUCCESS
BTBD6	90135	.	GRCh37	14	105716119	105716119	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	46	0	ENST00000392554.3:c.568G>A	p.Val190Ile	p.V190I	ENST00000392554		190	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10002.2	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCCTG	NONE	.	.	hmmpanther:PTHR24413:SF4,hmmpanther:PTHR24413,SMART_domains:SM00875	.	.	ENSP00000376337	.	4/4	.	.	.	.	.	.	.	.	COSM4049546	4/4	PASS	ENST00000392554	Transcript	.	.	ENSG00000184887	19897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.126)	.	tolerated(0.05)	1	BTBD6_HUMAN	BTBD6	HGNC	F8VPC8_HUMAN	.	UPI00001FDD27	SNV	BTBD6,missense_variant,p.Val190Ile,ENST00000536364,;BTBD6,missense_variant,p.Val190Ile,ENST00000392554,;BTBD6,missense_variant,p.Val190Ile,ENST00000537513,;BTBD6,missense_variant,p.Val115Ile,ENST00000327471,;BTBD6,missense_variant,p.Val115Ile,ENST00000463376,;BRF1,intron_variant,,ENST00000379937,;BRF1,intron_variant,,ENST00000546417,;BRF1,intron_variant,,ENST00000546474,;BRF1,intron_variant,,ENST00000327359,;BRF1,intron_variant,,ENST00000440513,;BRF1,upstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000550375,;BRF1,downstream_gene_variant,,ENST00000550692,;BRF1,upstream_gene_variant,,ENST00000552127,;BRF1,upstream_gene_variant,,ENST00000392557,;BRF1,upstream_gene_variant,,ENST00000446501,;BRF1,upstream_gene_variant,,ENST00000551787,;BRF1,upstream_gene_variant,,ENST00000379932,;BTBD6,non_coding_transcript_exon_variant,,ENST00000392553,;	865	46	91	SUCCESS
SCFD1	23256	.	GRCh37	14	31107344	31107345	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	ACTAT	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	137	52	139	0	ENST00000458591.2:c.328_332dup	p.Glu112TyrfsTer7	p.E112Yfs*7	ENST00000458591	NM_016106.3	109	caa/caACTATa	0	.	.	.	.	.	ACTAT	Q/QLX	protein_coding	YES	CCDS9639.1	326-327	VARSCANI*|PINDEL	.	AAATCAACTAT	NONE	.	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.40.50.2060,hmmpanther:PTHR11679:SF2,hmmpanther:PTHR11679	.	.	ENSP00000390783	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000458591	Transcript	.	.	ENSG00000092108	20726	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCFD1_HUMAN	SCFD1	HGNC	G3V5E2_HUMAN,G3V2M8_HUMAN,B7Z5N7_HUMAN	.	UPI000013C6E3	insertion	SCFD1,frameshift_variant,p.Glu112TyrfsTer7,ENST00000458591,;SCFD1,frameshift_variant,p.Glu20TyrfsTer7,ENST00000396629,;SCFD1,frameshift_variant,p.Glu87TyrfsTer7,ENST00000557076,;SCFD1,frameshift_variant,p.Glu53TyrfsTer7,ENST00000421551,;SCFD1,frameshift_variant,p.Glu45TyrfsTer7,ENST00000544052,;SCFD1,5_prime_UTR_variant,,ENST00000541123,;SCFD1,5_prime_UTR_variant,,ENST00000553693,;SCFD1,upstream_gene_variant,,ENST00000469043,;SCFD1,frameshift_variant,p.Glu112TyrfsTer7,ENST00000311943,;SCFD1,3_prime_UTR_variant,,ENST00000484733,;SCFD1,3_prime_UTR_variant,,ENST00000557713,;SCFD1,3_prime_UTR_variant,,ENST00000463622,;SCFD1,intron_variant,,ENST00000555259,;SCFD1,intron_variant,,ENST00000556768,;SCFD1,intron_variant,,ENST00000554776,;SCFD1,upstream_gene_variant,,ENST00000556534,;	553-554	139	189	SUCCESS
PPP2R3C	55012	.	GRCh37	14	35577440	35577440	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	16	52	0	ENST00000261475.5:c.407A>T	p.Gln136Leu	p.Q136L	ENST00000261475	NM_017917.2	136	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9654.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTGCCTA	NONE	.	.	hmmpanther:PTHR12085,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000261475	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000261475	Transcript	.	.	ENSG00000092020	17485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.38)	.	P2R3C_HUMAN	PPP2R3C	HGNC	.	.	UPI000006E6EC	SNV	PPP2R3C,missense_variant,p.Gln136Leu,ENST00000557278,;PPP2R3C,missense_variant,p.Gln65Leu,ENST00000555614,;PPP2R3C,missense_variant,p.Gln136Leu,ENST00000261475,;PPP2R3C,missense_variant,p.Gln136Leu,ENST00000555644,;PPP2R3C,missense_variant,p.Gln108Leu,ENST00000554361,;PPP2R3C,synonymous_variant,p.%3D,ENST00000554563,;PPP2R3C,synonymous_variant,p.%3D,ENST00000555630,;PPP2R3C,splice_region_variant,,ENST00000554899,;PPP2R3C,splice_region_variant,,ENST00000554222,;PPP2R3C,splice_region_variant,,ENST00000555726,;PPP2R3C,splice_region_variant,,ENST00000557288,;PPP2R3C,splice_region_variant,,ENST00000557217,;PPP2R3C,splice_region_variant,,ENST00000553273,;PPP2R3C,splice_region_variant,,ENST00000554488,;PPP2R3C,intron_variant,,ENST00000557773,;FAM177A1,intron_variant,,ENST00000555260,;FAM177A1,intron_variant,,ENST00000553901,;PPP2R3C,intron_variant,,ENST00000554265,;PPP2R3C,downstream_gene_variant,,ENST00000556254,;PPP2R3C,downstream_gene_variant,,ENST00000553282,;	761	52	98	SUCCESS
WDHD1	11169	.	GRCh37	14	55467661	55467661	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1355551036	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	120	198	0	ENST00000360586.3:c.743G>A	p.Gly248Asp	p.G248D	ENST00000360586	NM_007086.3	248	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9721.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTACCTGCA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19932,hmmpanther:PTHR19932:SF10,PROSITE_patterns:PS00678,Pfam_domain:PF08662,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000353793	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000360586	Transcript	.	.	ENSG00000198554	23170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	WDHD1_HUMAN	WDHD1	HGNC	C9JYB3_HUMAN,C9JW18_HUMAN	.	UPI0000125AC6	SNV	WDHD1,missense_variant,p.Gly125Asp,ENST00000420358,;WDHD1,missense_variant,p.Gly125Asp,ENST00000421192,;WDHD1,missense_variant,p.Gly248Asp,ENST00000360586,;AL160471.6,downstream_gene_variant,,ENST00000415189,;	809	198	292	SUCCESS
DICER1	23405	.	GRCh37	14	95556981	95556981	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745601023	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	197	112	199	0	ENST00000343455.3:c.5623G>A	p.Asp1875Asn	p.D1875N	ENST00000343455	NM_177438.2	1875	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9931.1	5623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTCGTAAG	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR14950:SF3,hmmpanther:PTHR14950,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000437256	.	29/29	.	.	.	.	.	.	.	.	rs745601023	29/29	PASS	ENST00000526495	Transcript	1	.	ENSG00000100697	17098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0.04)	.	DICER_HUMAN	DICER1	HGNC	Q5D0K5_HUMAN,B3KMJ0_HUMAN	.	UPI0000168662	SNV	DICER1,missense_variant,p.Asp1875Asn,ENST00000343455,;DICER1,missense_variant,p.Asp1875Asn,ENST00000527414,;DICER1,missense_variant,p.Asp1875Asn,ENST00000526495,;DICER1,missense_variant,p.Asp773Asn,ENST00000556045,;DICER1,missense_variant,p.Asp1875Asn,ENST00000393063,;DICER1,synonymous_variant,p.%3D,ENST00000541352,;DICER1,downstream_gene_variant,,ENST00000532939,;DICER1,non_coding_transcript_exon_variant,,ENST00000527416,;DICER1,downstream_gene_variant,,ENST00000527554,;	5915	199	310	SUCCESS
TMEM87A	25963	.	GRCh37	15	42556385	42556385	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1276332156	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	64	201	0	ENST00000389834.4:c.308T>G	p.Leu103Trp	p.L103W	ENST00000389834	NM_015497.3	103	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS32205.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACAACTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF10	.	.	ENSP00000374484	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000389834	Transcript	.	.	ENSG00000103978	24522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.18)	.	TM87A_HUMAN	TMEM87A	HGNC	H3BPJ4_HUMAN,H3BMU0_HUMAN,H3BM87_HUMAN	.	UPI0000073A7E	SNV	TMEM87A,missense_variant,p.Leu103Trp,ENST00000307216,;TMEM87A,missense_variant,p.Leu103Trp,ENST00000389834,;TMEM87A,missense_variant,p.Leu42Trp,ENST00000448392,;TMEM87A,5_prime_UTR_variant,,ENST00000561578,;TMEM87A,5_prime_UTR_variant,,ENST00000568400,;TMEM87A,5_prime_UTR_variant,,ENST00000566474,;TMEM87A,5_prime_UTR_variant,,ENST00000568432,;TMEM87A,5_prime_UTR_variant,,ENST00000563371,;TMEM87A,3_prime_UTR_variant,,ENST00000569075,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000562946,;	573	201	202	SUCCESS
C15orf43	0	.	GRCh37	15	45270751	45270751	+	synonymous_variant	Silent	SNP	C	C	T	rs776096362	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	418	15	374	0	ENST00000340827.3:c.588C>T	p.Thr196=	p.T196=	ENST00000340827	NM_152448.2	196	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10115.1	588	MUTECT|MUSE	.	GGAACCTCAGG	NONE	.	.	Pfam_domain:PF15101	.	.	ENSP00000340644	.	7/7	.	.	.	.	.	.	.	.	rs776096362	7/7	PASS	ENST00000340827	Transcript	.	.	ENSG00000167014	28520	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO043_HUMAN	C15orf43	HGNC	.	.	UPI000007232D	SNV	C15orf43,synonymous_variant,p.%3D,ENST00000340827,;RNU6-966P,downstream_gene_variant,,ENST00000516479,;C15orf43,3_prime_UTR_variant,,ENST00000557864,;C15orf43,3_prime_UTR_variant,,ENST00000559137,;	605	374	433	SUCCESS
IGDCC3	9543	.	GRCh37	15	65621829	65621829	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372129215	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	25	1	ENST00000327987.4:c.2104C>T	p.Arg702Trp	p.R702W	ENST00000327987	NM_004884.3	702	Cgg/Tgg	0	A:0.0002	.	.	.	.	A	R/W	protein_coding	YES	CCDS10205.1	2104	MUTECT|MUSE	.	GCCCCGCTGTC	NONE	byCluster	.	Low_complexity_(Seg):seg	.	A:0	ENSP00000332773	.	13/14	.	.	.	.	.	.	.	.	rs372129215	13/14	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	deleterious_low_confidence(0.05)	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,missense_variant,p.Arg702Trp,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	2356	26	36	SUCCESS
TMC3	342125	.	GRCh37	15	81625157	81625157	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	46	0	ENST00000359440.5:c.2906C>A	p.Ala969Asp	p.A969D	ENST00000359440	NM_001080532.1	969	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS45324.1	2906	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGCCCGA	NONE	.	.	hmmpanther:PTHR23302:SF35,hmmpanther:PTHR23302	.	.	ENSP00000352413	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000359440	Transcript	.	.	ENSG00000188869	22995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.197)	.	deleterious_low_confidence(0.05)	.	TMC3_HUMAN	TMC3	HGNC	.	.	UPI00006C154A	SNV	TMC3,missense_variant,p.Ala969Asp,ENST00000359440,;TMC3,missense_variant,p.Ala970Asp,ENST00000558726,;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560973,;RP11-761I4.3,intron_variant,,ENST00000560851,;TMC3,downstream_gene_variant,,ENST00000559982,;	3042	46	67	SUCCESS
ERCC4	2072	.	GRCh37	16	14041704	14041704	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	74	1	ENST00000311895.7:c.2251T>C	p.Tyr751His	p.Y751H	ENST00000311895	NM_005236.2	751	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS32390.1	2251	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCCGCTACTAC	NONE	.	.	hmmpanther:PTHR10150,Gene3D:1j23A00,Pfam_domain:PF02732,TIGRFAM_domain:TIGR00596,SMART_domains:SM00891,Superfamily_domains:SSF52980	.	.	ENSP00000310520	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000311895	Transcript	.	.	ENSG00000175595	3436	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.102)	.	tolerated(0.35)	.	XPF_HUMAN	ERCC4	HGNC	B4DXD8_HUMAN	.	UPI0000161BBF	SNV	ERCC4,missense_variant,p.Tyr751His,ENST00000311895,;ERCC4,3_prime_UTR_variant,,ENST00000462862,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;	2260	75	75	SUCCESS
SULT1A2	6799	.	GRCh37	16	28606943	28606943	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777311279	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	42	94	0	ENST00000335715.4:c.202G>A	p.Glu68Lys	p.E68K	ENST00000335715	NM_001054.3	68	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10636.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCCAGGT	NONE	.	.	hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF42,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000378992	.	3/8	.	.	.	.	.	.	.	.	rs777311279	3/8	PASS	ENST00000395630	Transcript	.	.	ENSG00000197165	11454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.08)	.	ST1A2_HUMAN	SULT1A2	HGNC	E9PKR8_HUMAN	.	UPI0000140669	SNV	SULT1A2,missense_variant,p.Glu68Lys,ENST00000395630,;SULT1A2,missense_variant,p.Glu68Lys,ENST00000335715,;SULT1A2,missense_variant,p.Glu68Lys,ENST00000526384,;SULT1A2,missense_variant,p.Glu68Lys,ENST00000533150,;CCDC101,downstream_gene_variant,,ENST00000317058,;CCDC101,downstream_gene_variant,,ENST00000564023,;SULT1A2,missense_variant,p.Glu68Lys,ENST00000534108,;CCDC101,downstream_gene_variant,,ENST00000565945,;CCDC101,downstream_gene_variant,,ENST00000567447,;	553	94	110	SUCCESS
HYDIN	54768	.	GRCh37	16	70883690	70883690	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	30	0	ENST00000393567.2:c.12812C>T	p.Ala4271Val	p.A4271V	ENST00000393567	NM_001270974.1	4271	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS59269.1	12812	RADIA|SOMATICSNIPER|VARSCANS	.	GGGTGGCATGT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	75/86	.	.	.	.	.	.	.	.	.	75/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.866)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Ala4271Val,ENST00000393567,;RNU6ATAC25P,upstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	12963	30	19	SUCCESS
CLEC18B	497190	.	GRCh37	16	74452060	74452060	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748991714	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	67	332	0	ENST00000339953.5:c.353C>G	p.Ala118Gly	p.A118G	ENST00000339953	NM_001011880.2	118	gCg/gGg	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS32484.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGCCAAG	BUFFER|p.P114P|c.342C>T|3	byFrequency	.	Superfamily_domains:SSF55797,SMART_domains:SM00198,Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334:SF180,hmmpanther:PTHR10334	.	.	ENSP00000341051	.	3/13	.	.	.	.	.	.	.	.	rs748991714	3/13	PASS	ENST00000339953	Transcript	.	.	ENSG00000140839	33849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.29)	.	CL18B_HUMAN	CLEC18B	HGNC	.	.	UPI000025210E	SNV	CLEC18B,missense_variant,p.Ala118Gly,ENST00000339953,;RP11-252A24.5,upstream_gene_variant,,ENST00000566506,;RP11-252A24.5,upstream_gene_variant,,ENST00000567148,;CLEC18B,intron_variant,,ENST00000425714,;	475	332	243	SUCCESS
CACNB1	782	.	GRCh37	17	37341067	37341067	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	18	80	0	ENST00000394303.3:c.699C>A	p.Ile233=	p.I233=	ENST00000394303	NM_000723.4	233	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS42311.1	699	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGATGAT	NONE	.	.	Prints_domain:PR01626,Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR11824:SF6,hmmpanther:PTHR11824	.	.	ENSP00000377840	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000394303	Transcript	.	.	ENSG00000067191	1401	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CACB1_HUMAN	CACNB1	HGNC	.	.	UPI0000127290	SNV	CACNB1,synonymous_variant,p.%3D,ENST00000344140,;CACNB1,synonymous_variant,p.%3D,ENST00000394303,;CACNB1,synonymous_variant,p.%3D,ENST00000394310,;CACNB1,non_coding_transcript_exon_variant,,ENST00000577582,;CACNB1,downstream_gene_variant,,ENST00000582877,;CACNB1,downstream_gene_variant,,ENST00000492737,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000536613,;	907	80	118	SUCCESS
LRRC46	90506	.	GRCh37	17	45914305	45914305	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	6	80	0	ENST00000269025.4:c.785C>T	p.Pro262Leu	p.P262L	ENST00000269025	NM_033413.3	262	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11518.1	785	MUTECT|MUSE	.	AGTCCCTGAGG	NONE	.	.	hmmpanther:PTHR10588:SF196,hmmpanther:PTHR10588	.	.	ENSP00000269025	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000269025	Transcript	.	.	ENSG00000141294	25047	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	tolerated(0.11)	.	LRC46_HUMAN	LRRC46	HGNC	A8K9Q0_HUMAN	.	UPI0000072C2E	SNV	LRRC46,missense_variant,p.Pro262Leu,ENST00000269025,;SCRN2,downstream_gene_variant,,ENST00000407215,;SCRN2,downstream_gene_variant,,ENST00000584123,;SCRN2,downstream_gene_variant,,ENST00000290216,;SCRN2,downstream_gene_variant,,ENST00000584567,;SCRN2,downstream_gene_variant,,ENST00000578323,;LRRC46,3_prime_UTR_variant,,ENST00000584580,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,downstream_gene_variant,,ENST00000578840,;SCRN2,downstream_gene_variant,,ENST00000583090,;LRRC46,downstream_gene_variant,,ENST00000584809,;SCRN2,downstream_gene_variant,,ENST00000581546,;SCRN2,downstream_gene_variant,,ENST00000582459,;SCRN2,downstream_gene_variant,,ENST00000582656,;LRRC46,downstream_gene_variant,,ENST00000579971,;SCRN2,downstream_gene_variant,,ENST00000581645,;SCRN2,downstream_gene_variant,,ENST00000579856,;SCRN2,downstream_gene_variant,,ENST00000580428,;	1148	80	106	SUCCESS
MYCBPAP	84073	.	GRCh37	17	48603556	48603556	+	synonymous_variant	Silent	SNP	C	C	T	rs1464601611	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	53	0	ENST00000323776.5:c.2226C>T	p.Ser742=	p.S742=	ENST00000323776	NM_032133.4	742	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32680.2	2226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCACCAA	NONE	.	.	hmmpanther:PTHR12276:SF44,hmmpanther:PTHR12276	.	.	ENSP00000323184	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000323776	Transcript	.	.	ENSG00000136449	19677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYBPP_HUMAN	MYCBPAP	HGNC	.	.	UPI0000E5A00B	SNV	MYCBPAP,synonymous_variant,p.%3D,ENST00000436259,;MYCBPAP,synonymous_variant,p.%3D,ENST00000323776,;MYCBPAP,intron_variant,,ENST00000488432,;MYCBPAP,synonymous_variant,p.%3D,ENST00000485169,;MYCBPAP,synonymous_variant,p.%3D,ENST00000437498,;MYCBPAP,downstream_gene_variant,,ENST00000470609,;MYCBPAP,downstream_gene_variant,,ENST00000459754,;MYCBPAP,upstream_gene_variant,,ENST00000573066,;MYCBPAP,upstream_gene_variant,,ENST00000477744,;	2388	53	60	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62892854	62892854	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746298195	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	15	1	ENST00000319651.5:c.522G>T	p.Gln174His	p.Q174H	ENST00000319651		174	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS32708.1	522	SOMATICSNIPER|VARSCANS	.	TGACTCTGAGG	NONE	.	.	hmmpanther:PTHR23045	.	.	ENSP00000464535	.	3/14	.	.	.	.	.	.	.	.	rs746298195	3/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	deleterious(0.01)	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,missense_variant,p.Gln174His,ENST00000319651,;LRRC37A3,missense_variant,p.Gln174His,ENST00000584306,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000580464,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;RP11-927P21.1,downstream_gene_variant,,ENST00000577938,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	1053	16	15	SUCCESS
ABCA10	10349	.	GRCh37	17	67183861	67183861	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	34	142	1	ENST00000269081.4:c.2291T>A	p.Phe764Tyr	p.F764Y	ENST00000269081	NM_080282.3	764	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS11684.1	2291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGAAGCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229	.	.	ENSP00000269081	.	20/40	.	.	.	.	.	.	.	.	.	20/40	PASS	ENST00000269081	Transcript	.	.	ENSG00000154263	30	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	ABCAA_HUMAN	ABCA10	HGNC	K7ERP5_HUMAN	.	UPI000013D7F6	SNV	ABCA10,missense_variant,p.Phe764Tyr,ENST00000269081,;ABCA10,3_prime_UTR_variant,,ENST00000416101,;ABCA10,missense_variant,p.Phe764Tyr,ENST00000523419,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;	3201	143	157	SUCCESS
SLC16A13	201232	.	GRCh37	17	6943090	6943090	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143183384	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	39	147	0	ENST00000308027.6:c.1090C>T	p.Arg364Trp	p.R364W	ENST00000308027	NM_201566.2	364	Cgg/Tgg	0	T:0.0111	T:0.0151	.	T:0	.	T	R/W	protein_coding	YES	CCDS11085.1	1090	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCGGGAT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF19,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	T:0	T:0	ENSP00000309751	T:0	4/4	.	.	.	.	.	.	.	.	rs143183384	4/4	common_in_exac	ENST00000308027	Transcript	.	T:0.0040	ENSG00000174327	31037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	T:0	deleterious(0.02)	.	MOT13_HUMAN	SLC16A13	HGNC	.	.	UPI000015FA66	SNV	SLC16A13,missense_variant,p.Arg364Trp,ENST00000308027,;SLC16A11,downstream_gene_variant,,ENST00000574600,;SLC16A11,downstream_gene_variant,,ENST00000308009,;SLC16A11,downstream_gene_variant,,ENST00000447225,;SLC16A11,downstream_gene_variant,,ENST00000573338,;SLC16A13,downstream_gene_variant,,ENST00000575844,;	1398	147	143	SUCCESS
RAB37	326624	.	GRCh37	17	72741039	72741039	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs543387119	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	34	116	1	ENST00000392613.5:c.460C>G	p.Arg154Gly	p.R154G	ENST00000392613	NM_001006638.2	154	Cgt/Ggt	0	.	T:0	.	T:0	.	G	R/G	protein_coding	YES	CCDS54161.1	475	RADIA|SOMATICSNIPER|VARSCANS	.	TGATCCGTTCC	NONE	by1000G	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF381,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00177,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540	T:0	.	ENSP00000376390	T:0	7/9	.	.	.	.	.	.	.	.	rs543387119	7/9	PASS	ENST00000392614	Transcript	.	T:0.0000	ENSG00000172794	30268	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.564)	T:0	deleterious(0.01)	.	RAB37_HUMAN	RAB37	HGNC	B3KPZ5_HUMAN	.	UPI0000E5A090	SNV	RAB37,missense_variant,p.Arg122Gly,ENST00000392615,;RAB37,missense_variant,p.Arg154Gly,ENST00000392613,;RAB37,missense_variant,p.Arg117Gly,ENST00000392612,;RAB37,missense_variant,p.Arg147Gly,ENST00000402449,;RAB37,missense_variant,p.Arg127Gly,ENST00000528438,;RAB37,missense_variant,p.Arg147Gly,ENST00000340415,;RAB37,missense_variant,p.Arg154Gly,ENST00000392610,;RAB37,missense_variant,p.Arg159Gly,ENST00000392614,;SLC9A3R1,upstream_gene_variant,,ENST00000583369,;SLC9A3R1,upstream_gene_variant,,ENST00000262613,;MIR3615,upstream_gene_variant,,ENST00000581999,;MIR3615,downstream_gene_variant,,ENST00000585285,;RAB37,missense_variant,p.Arg154Gly,ENST00000481224,;RAB37,non_coding_transcript_exon_variant,,ENST00000488977,;RAB37,non_coding_transcript_exon_variant,,ENST00000531420,;RAB37,non_coding_transcript_exon_variant,,ENST00000577548,;RAB37,non_coding_transcript_exon_variant,,ENST00000392617,;RAB37,downstream_gene_variant,,ENST00000533530,;RAB37,downstream_gene_variant,,ENST00000527040,;	568	117	140	SUCCESS
TEN1	100134934	.	GRCh37	17	73996268	73996268	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	39	0	ENST00000397640.1:c.297G>T	p.Gly99=	p.G99=	ENST00000397640	NM_001113324.2	99	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45780.2	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGATGAA	NONE	.	.	Pfam_domain:PF15490	.	.	ENSP00000380762	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397640	Transcript	.	.	ENSG00000257949	37242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN1L_HUMAN	TEN1	HGNC	K7EJS2_HUMAN,D3U720_HUMAN	.	UPI00005A8BEF	SNV	TEN1,synonymous_variant,p.%3D,ENST00000416485,;TEN1,synonymous_variant,p.%3D,ENST00000397640,;TEN1,3_prime_UTR_variant,,ENST00000588202,;EVPL,downstream_gene_variant,,ENST00000589231,;CDK3,upstream_gene_variant,,ENST00000448471,;CDK3,upstream_gene_variant,,ENST00000588812,;CDK3,upstream_gene_variant,,ENST00000425876,;CDK3,upstream_gene_variant,,ENST00000586261,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,;	595	39	56	SUCCESS
TP53	7157	.	GRCh37	17	7578478	7578478	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1057520000	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	60	0	ENST00000269305.4:c.452C>A	p.Pro151His	p.P151H	ENST00000269305	NM_001126112.2	151	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS11118.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGGTGTG	SITE|p.P58H|c.173C>A|6,SITE|p.P151H|c.452C>A|29,SITE|p.P151H|c.452C>A|6,SITE|p.P151H|c.452C>A|6,SITE|p.P19H|c.56C>A|6,CODON|p.0?|c.1_1182del1182|6,CODON|p.T150fs*16|c.448_460del13|4,CODON|p.P151P|c.453C>T|8,CODON|p.P151P|c.453C>G|4,CODON|p.P152fs*18|c.451delC|9,CODON|p.P151R|c.452C>G|8,CODON|p.P19R|c.56C>G|3,CODON|p.P151L|c.452C>T|7,BUFFER|p.P152fs*14|c.454_466del13|5,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G61V|c.182G>T|3,BUFFER|p.G22V|c.65G>T|4,BUFFER|p.G154D|c.461G>A|6,BUFFER|p.G154V|c.461G>T|38,BUFFER|p.G154S|c.460G>A|9,BUFFER|p.P153P|c.459C>T|6,BUFFER|p.P153L|c.458C>T|6,BUFFER|p.P153T|c.457C>A|3,BUFFER|p.P153S|c.457C>T|8,BUFFER|p.P153fs*28|c.456_457insN|4,BUFFER|p.P153fs*28|c.455_456insN|3,BUFFER|p.P152fs*18|c.455delC|6,BUFFER|p.P152P|c.456G>A|4,BUFFER|p.P152Q|c.455C>A|5,BUFFER|p.P152L|c.455C>T|70,BUFFER|p.P20L|c.59C>T|10,BUFFER|p.P152L|c.455C>T|10,BUFFER|p.P152R|c.455C>G|6,BUFFER|p.P59L|c.176C>T|10,BUFFER|p.P152L|c.455C>T|10,BUFFER|p.P152L|c.455C>T|4,BUFFER|p.P152L|c.455C>T|3,BUFFER|p.P152fs*18|c.454delC|3,BUFFER|p.P152fs*29|c.453_454insN|5,BUFFER|p.P152T|c.454C>A|7,BUFFER|p.P152S|c.454C>T|24,BUFFER|p.P151T|c.451C>A|3,BUFFER|p.P19T|c.55C>A|3,BUFFER|p.P58S|c.172C>T|6,BUFFER|p.P151T|c.451C>A|16,BUFFER|p.P151A|c.451C>G|14,BUFFER|p.P151A|c.451C>G|3,BUFFER|p.P151S|c.451C>T|68,BUFFER|p.P151S|c.451C>T|6,BUFFER|p.P58T|c.172C>A|3,BUFFER|p.P151S|c.451C>T|3,BUFFER|p.P151A|c.451C>G|7,BUFFER|p.P151A|c.451C>G|7,BUFFER|p.P151S|c.451C>T|4,BUFFER|p.P151T|c.451C>A|3,BUFFER|p.P19A|c.55C>G|7,BUFFER|p.P58A|c.172C>G|7,BUFFER|p.P19S|c.55C>T|6,BUFFER|p.P151A|c.451C>G|3,BUFFER|p.P151fs*30|c.450_451insN|5,BUFFER|p.T150I|c.449C>T|4,BUFFER|p.S149S|c.447C>T|6,BUFFER|p.S149F|c.446C>T|5,BUFFER|p.S149fs*32|c.444_445insN|5,BUFFER|p.S149P|c.445T>C|4,BUFFER|p.D148N|c.442G>A|5,BUFFER|p.V147V|c.441T>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	TP53_g.12440C>A,TP53_g.12440C>T,TP53_g.12440C>G,COSM44003,COSM44288,COSM11476,COSM259150,COSM707868,COSM259149,COSM707869,COSM259151,COSM707871,COSM4139888,COSM3388218,COSM4139887,COSM2744918,COSM259152,COSM707870	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	possibly_damaging(0.773)	.	deleterious(0)	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Pro151His,ENST00000508793,;TP53,missense_variant,p.Pro151His,ENST00000413465,;TP53,missense_variant,p.Pro151His,ENST00000420246,;TP53,missense_variant,p.Pro151His,ENST00000269305,;TP53,missense_variant,p.Pro19His,ENST00000509690,;TP53,missense_variant,p.Pro151His,ENST00000359597,;TP53,missense_variant,p.Pro58His,ENST00000514944,;TP53,missense_variant,p.Pro151His,ENST00000445888,;TP53,missense_variant,p.Pro151His,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	642	60	58	SUCCESS
TBCD	6904	.	GRCh37	17	80888501	80888501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	78	0	ENST00000355528.4:c.3095A>G	p.Asp1032Gly	p.D1032G	ENST00000355528	NM_005993.4	1032	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45818.1	3095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGACAACC	NONE	.	.	hmmpanther:PTHR12658,Pfam_domain:PF12612,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000347719	.	33/39	.	.	.	.	.	.	.	.	.	33/39	PASS	ENST00000355528	Transcript	.	.	ENSG00000141556	11581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0.01)	.	TBCD_HUMAN	TBCD	HGNC	I3L4D2_HUMAN,I3L439_HUMAN,I3L3H4_HUMAN,I3L1S3_HUMAN,I3L163_HUMAN,I3L131_HUMAN	.	UPI000020053F	SNV	TBCD,missense_variant,p.Asp1032Gly,ENST00000539345,;TBCD,missense_variant,p.Asp1032Gly,ENST00000355528,;TBCD,missense_variant,p.Asp126Gly,ENST00000577051,;TBCD,downstream_gene_variant,,ENST00000576760,;TBCD,downstream_gene_variant,,ENST00000574422,;TBCD,downstream_gene_variant,,ENST00000571618,;TBCD,upstream_gene_variant,,ENST00000576603,;TBCD,non_coding_transcript_exon_variant,,ENST00000576677,;TBCD,non_coding_transcript_exon_variant,,ENST00000575132,;TBCD,upstream_gene_variant,,ENST00000573364,;TBCD,downstream_gene_variant,,ENST00000574886,;TBCD,downstream_gene_variant,,ENST00000574818,;TBCD,downstream_gene_variant,,ENST00000571796,;TBCD,downstream_gene_variant,,ENST00000570679,;	3225	78	100	SUCCESS
SOGA2	0	.	GRCh37	18	8813094	8813094	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	14	127	0	ENST00000306329.11:c.3679G>C	p.Val1227Leu	p.V1227L	ENST00000306329		1227	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS11841.1	2722	MUTECT|MUSE|VARSCANS	.	GCCTGGTCATG	NONE	.	.	hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	.	ENSP00000352927	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.079)	.	deleterious(0.04)	.	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,missense_variant,p.Val261Leu,ENST00000518815,;SOGA2,missense_variant,p.Val867Leu,ENST00000517570,;SOGA2,missense_variant,p.Val867Leu,ENST00000400050,;SOGA2,missense_variant,p.Val261Leu,ENST00000306285,;SOGA2,missense_variant,p.Val1227Leu,ENST00000306329,;SOGA2,missense_variant,p.Val908Leu,ENST00000359865,;SOGA2,non_coding_transcript_exon_variant,,ENST00000518226,;SOGA2,non_coding_transcript_exon_variant,,ENST00000519823,;SOGA2,downstream_gene_variant,,ENST00000522592,;SOGA2,non_coding_transcript_exon_variant,,ENST00000520926,;SOGA2,downstream_gene_variant,,ENST00000520495,;	2864	127	147	SUCCESS
PIK3R2	5296	.	GRCh37	19	18266738	18266738	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868385898	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000222254.8:c.49C>T	p.Arg17Trp	p.R17W	ENST00000222254	NM_005027.3	17	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12371.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCCGGGAG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10155:SF1,hmmpanther:PTHR10155,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000222254	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000222254	Transcript	1	.	ENSG00000105647	8980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious(0)	.	P85B_HUMAN	PIK3R2	HGNC	Q96CK7_HUMAN,M0QYU3_HUMAN	.	UPI000006EF95	SNV	PIK3R2,missense_variant,p.Arg17Trp,ENST00000222254,;MAST3,downstream_gene_variant,,ENST00000262811,;AC007192.6,upstream_gene_variant,,ENST00000600364,;PIK3R2,missense_variant,p.Arg17Trp,ENST00000593731,;PIK3R2,missense_variant,p.Arg17Trp,ENST00000426902,;PIK3R2,upstream_gene_variant,,ENST00000474310,;	649	17	15	SUCCESS
ZNF429	353088	.	GRCh37	19	21720474	21720474	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	31	0	ENST00000358491.4:c.1619A>T	p.Glu540Val	p.E540V	ENST00000358491	NM_001001415.2	540	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS42537.1	1619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGAAGAAT	BUFFER|p.P536P|c.1608T>C|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF239,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000351280	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358491	Transcript	.	.	ENSG00000197013	20817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	deleterious(0.02)	.	ZN429_HUMAN	ZNF429	HGNC	.	.	UPI000022ABC2	SNV	ZNF429,missense_variant,p.Glu540Val,ENST00000358491,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,;	1827	31	41	SUCCESS
ZNF507	22847	.	GRCh37	19	32873386	32873386	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	33	163	0	ENST00000311921.4:c.2374G>C	p.Gly792Arg	p.G792R	ENST00000311921	NM_014910.4	792	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS32985.1	2374	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGGGTAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000312277	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000311921	Transcript	.	.	ENSG00000168813	23783	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ZN507_HUMAN	ZNF507	HGNC	.	.	UPI0000202010	SNV	ZNF507,missense_variant,p.Gly792Arg,ENST00000355898,;ZNF507,missense_variant,p.Gly792Arg,ENST00000311921,;ZNF507,missense_variant,p.Gly796Arg,ENST00000544431,;ZNF507,non_coding_transcript_exon_variant,,ENST00000586664,;	2566	163	182	SUCCESS
ZNF541	84215	.	GRCh37	19	48047823	48047823	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	38	0	ENST00000391901.3:c.1963G>A	p.Ala655Thr	p.A655T	ENST00000391901	NM_001277075.1	655	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCGCGGCCA	NONE	.	.	hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23	.	.	ENSP00000313258	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000314121	Transcript	.	.	ENSG00000118156	25294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ZN541_HUMAN	ZNF541	HGNC	.	.	UPI0001837EA0	SNV	ZNF541,missense_variant,p.Ala655Thr,ENST00000314121,;ZNF541,missense_variant,p.Ala246Thr,ENST00000263351,;ZNF541,missense_variant,p.Ala233Thr,ENST00000595558,;ZNF541,missense_variant,p.Ala655Thr,ENST00000448976,;ZNF541,missense_variant,p.Ala655Thr,ENST00000391901,;ZNF541,upstream_gene_variant,,ENST00000487275,;	1963	38	59	SUCCESS
PEG3	5178	.	GRCh37	19	57334962	57334962	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	44	0	ENST00000326441.9:c.480C>T		p.X160_splice	ENST00000326441	NM_006210.2	160	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS12948.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGAAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78	.	.	ENSP00000326581	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,synonymous_variant,p.%3D,ENST00000423103,;ZIM2,synonymous_variant,p.%3D,ENST00000221722,;ZIM2,synonymous_variant,p.%3D,ENST00000601070,;ZIM2,synonymous_variant,p.%3D,ENST00000593711,;PEG3,synonymous_variant,p.%3D,ENST00000599534,;ZIM2,synonymous_variant,p.%3D,ENST00000391708,;PEG3,synonymous_variant,p.%3D,ENST00000326441,;ZIM2,synonymous_variant,p.%3D,ENST00000593931,;PEG3,synonymous_variant,p.%3D,ENST00000600833,;PEG3,synonymous_variant,p.%3D,ENST00000599577,;ZIM2,synonymous_variant,p.%3D,ENST00000599935,;PEG3,synonymous_variant,p.%3D,ENST00000598410,;PEG3,synonymous_variant,p.%3D,ENST00000593695,;PEG3,downstream_gene_variant,,ENST00000594389,;PEG3,downstream_gene_variant,,ENST00000596261,;PEG3,downstream_gene_variant,,ENST00000594706,;ZIM2,synonymous_variant,p.%3D,ENST00000597281,;ZIM2,synonymous_variant,p.%3D,ENST00000595671,;	844	44	65	SUCCESS
LPPR3	0	.	GRCh37	19	814544	814544	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1555702244	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	31	0	ENST00000520876.3:c.721T>C	p.Phe241Leu	p.F241L	ENST00000520876	NM_001270366.1	241	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS12043.1	805	RADIA|MUSE|VARSCANS	.	GGCAAAGGCGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF14,hmmpanther:PTHR10165,Gene3D:1.20.144.10,Pfam_domain:PF01569,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000352962	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000359894	Transcript	.	.	ENSG00000129951	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	.	LPPR3	Uniprot_gn	K7ELK5_HUMAN	.	UPI00000730B6	SNV	LPPR3,missense_variant,p.Phe241Leu,ENST00000520876,;LPPR3,missense_variant,p.Phe30Leu,ENST00000517665,;LPPR3,missense_variant,p.Phe269Leu,ENST00000359894,;PTBP1,downstream_gene_variant,,ENST00000349038,;PTBP1,downstream_gene_variant,,ENST00000394601,;PTBP1,downstream_gene_variant,,ENST00000356948,;LPPR3,downstream_gene_variant,,ENST00000519502,;PTBP1,downstream_gene_variant,,ENST00000350092,;MIR3187,downstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000585856,;	869	31	29	SUCCESS
AGL	178	.	GRCh37	1	100340249	100340249	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	54	0	ENST00000294724.4:c.965G>A	p.Arg322Lys	p.R322K	ENST00000294724	NM_000028.2	322	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS759.1	965	RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGGCGAG	BUFFER|p.R323*|c.967C>T|3	.	.	hmmpanther:PTHR10569,Pfam_domain:PF14701,TIGRFAM_domain:TIGR01531	.	.	ENSP00000294724	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,missense_variant,p.Arg322Lys,ENST00000370163,;AGL,missense_variant,p.Arg306Lys,ENST00000361302,;AGL,missense_variant,p.Arg322Lys,ENST00000294724,;AGL,missense_variant,p.Arg322Lys,ENST00000370165,;AGL,missense_variant,p.Arg305Lys,ENST00000361522,;AGL,missense_variant,p.Arg306Lys,ENST00000370161,;AGL,missense_variant,p.Arg322Lys,ENST00000361915,;AGL,non_coding_transcript_exon_variant,,ENST00000477753,;	1443	55	62	SUCCESS
LCE1E	353135	.	GRCh37	1	152759984	152759984	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	124	0	ENST00000368770.3:c.209C>A	p.Ser70Tyr	p.S70Y	ENST00000368770	NM_178353.1	70	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS1024.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000357759	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368770	Transcript	.	.	ENSG00000186226	29466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	LCE1E_HUMAN	LCE1E	HGNC	.	.	UPI0000161050	SNV	LCE1E,missense_variant,p.Ser70Tyr,ENST00000368771,;LCE1E,missense_variant,p.Ser70Tyr,ENST00000368770,;	262	124	90	SUCCESS
SLC50A1	55974	.	GRCh37	1	155110121	155110121	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	62	0	ENST00000368404.4:c.367G>A	p.Glu123Lys	p.E123K	ENST00000368404	NM_018845.3	123	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1093.1	367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGAGGCC	NONE	.	.	hmmpanther:PTHR10791,hmmpanther:PTHR10791:SF24	.	.	ENSP00000357389	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368404	Transcript	.	.	ENSG00000169241	30657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.49)	.	SWET1_HUMAN	SLC50A1	HGNC	.	.	UPI00000361FB	SNV	SLC50A1,missense_variant,p.Glu68Lys,ENST00000368401,;SLC50A1,missense_variant,p.Glu58Lys,ENST00000484157,;SLC50A1,missense_variant,p.Glu123Lys,ENST00000368404,;SLC50A1,intron_variant,,ENST00000303343,;EFNA1,downstream_gene_variant,,ENST00000368406,;EFNA1,downstream_gene_variant,,ENST00000368407,;DPM3,downstream_gene_variant,,ENST00000341298,;DPM3,downstream_gene_variant,,ENST00000368400,;DPM3,downstream_gene_variant,,ENST00000368399,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000488609,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000475824,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000490770,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000490276,;SLC50A1,intron_variant,,ENST00000484027,;SLC50A1,intron_variant,,ENST00000368405,;SLC50A1,downstream_gene_variant,,ENST00000465546,;EFNA1,downstream_gene_variant,,ENST00000469878,;SLC50A1,upstream_gene_variant,,ENST00000479579,;EFNA1,downstream_gene_variant,,ENST00000474413,;EFNA1,downstream_gene_variant,,ENST00000497282,;SLC50A1,downstream_gene_variant,,ENST00000506037,;	429	62	88	SUCCESS
KIRREL	0	.	GRCh37	1	158061246	158061246	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	52	0	ENST00000359209.6:c.1371C>T	p.Thr457=	p.T457=	ENST00000359209		457	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1172.2	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCATCAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	11/15	.	.	.	.	.	.	.	.	COSM81354	11/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,synonymous_variant,p.%3D,ENST00000360089,;KIRREL,synonymous_variant,p.%3D,ENST00000368173,;KIRREL,synonymous_variant,p.%3D,ENST00000368172,;KIRREL,synonymous_variant,p.%3D,ENST00000416935,;KIRREL,synonymous_variant,p.%3D,ENST00000359209,;KIRREL,synonymous_variant,p.%3D,ENST00000392272,;	1438	52	60	SUCCESS
KIFAP3	22920	.	GRCh37	1	169951194	169951194	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	224	7	211	0	ENST00000361580.2:c.1717G>A	p.Gly573Arg	p.G573R	ENST00000361580	NM_014970.3	573	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1288.1	1717	MUTECT|MUSE	.	AGTTCCAATCA	NONE	.	.	hmmpanther:PTHR15605,Pfam_domain:PF05804,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354560	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000361580	Transcript	.	.	ENSG00000075945	17060	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KIFA3_HUMAN	KIFAP3	HGNC	B7Z7E7_HUMAN	.	UPI000006CD6C	SNV	KIFAP3,missense_variant,p.Gly573Arg,ENST00000361580,;KIFAP3,missense_variant,p.Gly495Arg,ENST00000538366,;KIFAP3,missense_variant,p.Gly533Arg,ENST00000367765,;KIFAP3,missense_variant,p.Gly275Arg,ENST00000540905,;KIFAP3,missense_variant,p.Gly529Arg,ENST00000367767,;	1945	211	231	SUCCESS
SLC9C2	284525	.	GRCh37	1	173476077	173476077	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	35	160	0	ENST00000367714.3:c.3143T>G	p.Ile1048Ser	p.I1048S	ENST00000367714	NM_178527.3	1048	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS1308.1	3143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGATAACA	NONE	.	.	.	.	.	ENSP00000356687	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Ile1048Ser,ENST00000367714,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	3566	160	177	SUCCESS
FCAMR	83953	.	GRCh37	1	207133090	207133090	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	84	0	ENST00000324852.4:c.1507A>G	p.Met503Val	p.M503V	ENST00000324852	NM_001170631.1	503	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS53468.1	1507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATGGTAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF22	.	.	ENSP00000316491	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000324852	Transcript	.	.	ENSG00000162897	24692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	.	FCAMR	HGNC	.	.	UPI0000EE5E27	SNV	FCAMR,missense_variant,p.Met503Val,ENST00000324852,;FCAMR,synonymous_variant,p.%3D,ENST00000450945,;FCAMR,synonymous_variant,p.%3D,ENST00000400962,;FCAMR,non_coding_transcript_exon_variant,,ENST00000486178,;FCAMR,downstream_gene_variant,,ENST00000487149,;FCAMR,downstream_gene_variant,,ENST00000488345,;FCAMR,3_prime_UTR_variant,,ENST00000324863,;	1982	84	82	SUCCESS
HSPG2	3339	.	GRCh37	1	22159859	22159872	+	frameshift_variant	Frame_Shift_Del	DEL	AAGTAGGGCACCAC	AAGTAGGGCACCAC	-	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	AAGTAGGGCACCAC	AAGTAGGGCACCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	65	0	ENST00000374695.3:c.10984_10997del	p.Val3662HisfsTer109	p.V3662Hfs*109	ENST00000374695	NM_005529.5	3662	GTGGTGCCCTACTTc/c	0	.	.	.	.	.	-	VVPYF/X	protein_coding	YES	CCDS30625.1	10984-10997	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCGTGAAGTAGGGCACCACCCGCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000363827	.	80/97	.	.	.	.	.	.	.	.	.	80/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	deletion	HSPG2,frameshift_variant,p.Val3662HisfsTer109,ENST00000374695,;HSPG2,downstream_gene_variant,,ENST00000426143,;HSPG2,downstream_gene_variant,,ENST00000374676,;HSPG2,non_coding_transcript_exon_variant,,ENST00000469378,;HSPG2,downstream_gene_variant,,ENST00000471322,;HSPG2,upstream_gene_variant,,ENST00000486901,;	11064-11077	65	98	SUCCESS
DNAH14	127602	.	GRCh37	1	225525167	225525167	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	255	54	267	0	ENST00000445597.2:c.7685C>T	p.Ala2562Val	p.A2562V	ENST00000445597		2562	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	.	.	7685	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCTATGA	NONE	.	.	Pfam_domain:PF12781,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676	.	.	ENSP00000409472	.	45/61	.	.	.	.	.	.	.	.	.	45/61	PASS	ENST00000445597	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.787)	.	deleterious(0.02)	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0001642868	SNV	DNAH14,missense_variant,p.Ala2562Val,ENST00000445597,;DNAH14,missense_variant,p.Ala3334Val,ENST00000430092,;DNAH14,missense_variant,p.Ala3334Val,ENST00000439375,;DNAH14,missense_variant,p.Ala1060Val,ENST00000327794,;	7685	267	309	SUCCESS
JAK1	3716	.	GRCh37	1	65335078	65335078	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	97	0	ENST00000342505.4:c.563A>T	p.Glu188Val	p.E188V	ENST00000342505	NM_002227.2	188	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41346.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACTCGTTC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,SMART_domains:SM00295,PIRSF_domain:PIRSF000636,Superfamily_domains:SSF47031	.	.	ENSP00000343204	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Glu188Val,ENST00000342505,;JAK1,upstream_gene_variant,,ENST00000494904,;	812	97	117	SUCCESS
DEFB128	245939	.	GRCh37	20	168643	168643	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	335	99	295	1	ENST00000334391.4:c.166G>A	p.Asp56Asn	p.D56N	ENST00000334391	NM_001037732.1	56	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33430.1	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCATTAG	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF8	.	.	ENSP00000335382	.	2/2	.	.	.	.	.	.	.	.	COSM3840487	2/2	PASS	ENST00000334391	Transcript	.	.	ENSG00000185982	18106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.06)	.	tolerated(0.12)	1	DB128_HUMAN	DEFB128	HGNC	.	.	UPI00001A36DF	SNV	DEFB128,missense_variant,p.Asp56Asn,ENST00000334391,;AL360078.1,downstream_gene_variant,,ENST00000544961,;	224	296	434	SUCCESS
CDC25B	994	.	GRCh37	20	3783819	3783819	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	5	108	0	ENST00000245960.5:c.1322G>C	p.Arg441Thr	p.R441T	ENST00000245960	NM_021873.2	441	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS13067.1	1322	MUTECT|MUSE	.	CTGCAGATACC	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR10828:SF46,hmmpanther:PTHR10828,Pfam_domain:PF00581,Gene3D:3.40.250.10,SMART_domains:SM00450,Superfamily_domains:SSF52821,Prints_domain:PR00716	.	.	ENSP00000245960	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000245960	Transcript	.	.	ENSG00000101224	1726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MPIP2_HUMAN	CDC25B	HGNC	D3DVY6_HUMAN,B3KS38_HUMAN	.	UPI000012F474	SNV	CDC25B,missense_variant,p.Arg400Thr,ENST00000340833,;CDC25B,missense_variant,p.Arg427Thr,ENST00000439880,;CDC25B,missense_variant,p.Arg350Thr,ENST00000379598,;CDC25B,missense_variant,p.Arg377Thr,ENST00000344256,;CDC25B,missense_variant,p.Arg441Thr,ENST00000245960,;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,non_coding_transcript_exon_variant,,ENST00000480816,;CDC25B,non_coding_transcript_exon_variant,,ENST00000468979,;CDC25B,non_coding_transcript_exon_variant,,ENST00000495915,;	2019	108	138	SUCCESS
DOK5	55816	.	GRCh37	20	53226977	53226977	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	18	131	0	ENST00000262593.5:c.650A>C	p.Glu217Ala	p.E217A	ENST00000262593	NM_018431.3	217	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS13446.1	650	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGAGGCCA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00310,Gene3D:2.30.29.30,Pfam_domain:PF02174,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF45,PROSITE_profiles:PS51064	.	.	ENSP00000262593	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000262593	Transcript	.	.	ENSG00000101134	16173	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	DOK5_HUMAN	DOK5	HGNC	.	.	UPI00001296AB	SNV	DOK5,missense_variant,p.Glu109Ala,ENST00000395939,;DOK5,missense_variant,p.Glu217Ala,ENST00000262593,;	1000	131	158	SUCCESS
MICAL3	57553	.	GRCh37	22	18299504	18299504	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	18	0	ENST00000441493.2:c.5397C>G	p.Leu1799=	p.L1799=	ENST00000441493	NM_015241.2	1799	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS46659.1	5397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGAGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	27/32	.	.	.	.	.	.	.	.	.	27/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000579997,;MICAL3,synonymous_variant,p.%3D,ENST00000577821,;MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;	5750	18	29	SUCCESS
IGLJ3	28831	.	GRCh37	22	23247196	23247196	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	24	122	0	ENST00000390324.2:c.142A>C	p.Thr48Pro	p.T48P	ENST00000390324		48	Acc/Ccc	0	.	.	.	.	.	C	T/P	IG_J_gene	YES	.	142	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGACCGTC	NONE	.	.	.	.	.	ENSP00000419781	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390324	Transcript	.	.	ENSG00000211678	5865	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.711)	.	deleterious_low_confidence(0)	.	.	IGLJ3	HGNC	.	.	UPI000173A2D4	SNV	IGLJ3,missense_variant,p.Thr48Pro,ENST00000390324,;IGLC3,upstream_gene_variant,,ENST00000390325,;IGLC2,downstream_gene_variant,,ENST00000390323,;	167	122	158	SUCCESS
CELSR1	9620	.	GRCh37	22	46794440	46794440	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	90	0	ENST00000262738.3:c.5507G>T	p.Gly1836Val	p.G1836V	ENST00000262738	NM_014246.1	1836	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14076.1	5507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCCACGG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,PROSITE_profiles:PS50025	.	.	ENSP00000262738	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Gly1836Val,ENST00000262738,;	5507	90	62	SUCCESS
IL1F10	84639	.	GRCh37	2	113831957	113831957	+	synonymous_variant	Silent	SNP	G	G	T	rs199770962	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	10	127	0	ENST00000341010.2:c.84G>T	p.Leu28=	p.L28=	ENST00000341010	NM_173161.2	28	ctG/ctT	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS2112.1	84	MUTECT|MUSE	.	CTGCTGGTGGG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF50353,SMART_domains:SM00125,Gene3D:2.80.10.50,hmmpanther:PTHR10078:SF8,hmmpanther:PTHR10078	T:0.002	.	ENSP00000376893	T:0	2/4	.	.	.	.	.	.	.	.	rs199770962	2/4	PASS	ENST00000393197	Transcript	.	T:0.0004	ENSG00000136697	15552	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	IL1FA_HUMAN	IL1F10	HGNC	.	.	UPI000003C9C3	SNV	IL1F10,synonymous_variant,p.%3D,ENST00000341010,;IL1F10,synonymous_variant,p.%3D,ENST00000393197,;IL1F10,intron_variant,,ENST00000337569,;IL1F10,upstream_gene_variant,,ENST00000496265,;	505	127	132	SUCCESS
PKP4	8502	.	GRCh37	2	159481873	159481873	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	46	206	0	ENST00000389759.3:c.1087C>T	p.Gln363Ter	p.Q363*	ENST00000389759	NM_003628.3	363	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS33305.1	1087	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCAATTC	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8	.	.	ENSP00000374409	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000389759	Transcript	.	.	ENSG00000144283	9026	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PKP4_HUMAN	PKP4	HGNC	Q53TM5_HUMAN	.	UPI000044D379	SNV	PKP4,stop_gained,p.Gln363Ter,ENST00000389759,;PKP4,stop_gained,p.Gln363Ter,ENST00000389757,;PKP4,downstream_gene_variant,,ENST00000462335,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000481115,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,3_prime_UTR_variant,,ENST00000421462,;PKP4,downstream_gene_variant,,ENST00000457109,;	1199	206	251	SUCCESS
COL4A4	1286	.	GRCh37	2	228012135	228012135	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	59	0	ENST00000396625.3:c.65G>A	p.Gly22Asp	p.G22D	ENST00000396625	NM_000092.4	22	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS42828.1	65	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACCTGTG	NONE	.	.	.	.	.	ENSP00000379866	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Gly22Asp,ENST00000329662,;COL4A4,missense_variant,p.Gly22Asp,ENST00000396625,;	273	59	51	SUCCESS
ATAD2B	54454	.	GRCh37	2	23980414	23980414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	51	182	0	ENST00000238789.5:c.3952C>A	p.Pro1318Thr	p.P1318T	ENST00000238789	NM_001242338.1	1318	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46227.1	3952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGTTTTT	NONE	.	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069	.	.	ENSP00000238789	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,missense_variant,p.Pro1318Thr,ENST00000238789,;ATAD2B,missense_variant,p.Pro594Thr,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;	4296	182	210	SUCCESS
PRR21	643905	.	GRCh37	2	240982156	240982156	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	38	0	ENST00000408934.1:c.244C>T	p.Leu82Phe	p.L82F	ENST00000408934	NM_001080835.1	82	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS33417.1	244	MUTECT|VARSCANS	.	GAAGAGCCGTG	NONE	.	.	.	.	.	ENSP00000386166	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408934	Transcript	.	.	ENSG00000221961	33866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.27)	.	PRR21_HUMAN	PRR21	HGNC	.	.	UPI0000071C18	SNV	PRR21,missense_variant,p.Leu82Phe,ENST00000408934,;PRR21,missense_variant,p.Leu82Phe,ENST00000486799,;OR6B3,downstream_gene_variant,,ENST00000319423,;	244	38	40	SUCCESS
OR6B3	150681	.	GRCh37	2	240984862	240984862	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	50	240	0	ENST00000319423.4:c.628C>G	p.Pro210Ala	p.P210A	ENST00000319423	NM_173351.1	210	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS42837.1	628	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGGAAACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF106,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322435	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319423	Transcript	.	.	ENSG00000178586	15042	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	OR6B3_HUMAN	OR6B3	HGNC	I0EZ58_HUMAN	.	UPI0000061EBE	SNV	OR6B3,missense_variant,p.Pro210Ala,ENST00000319423,;PRR21,upstream_gene_variant,,ENST00000408934,;PRR21,upstream_gene_variant,,ENST00000486799,;	628	240	253	SUCCESS
C2orf44	0	.	GRCh37	2	24261849	24261849	+	synonymous_variant	Silent	SNP	C	C	T	rs1228513321	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	63	0	ENST00000295148.4:c.516G>A	p.Val172=	p.V172=	ENST00000295148	NM_025203.2	172	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1705.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCACCAG	NONE	.	.	hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF2,Gene3D:2.130.10.10,Pfam_domain:PF15390,Superfamily_domains:0047732	.	.	ENSP00000295148	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295148	Transcript	.	.	ENSG00000163026	26157	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB044_HUMAN	C2orf44	HGNC	C9JYC1_HUMAN	.	UPI0000070788	SNV	C2orf44,synonymous_variant,p.%3D,ENST00000443232,;C2orf44,synonymous_variant,p.%3D,ENST00000406895,;C2orf44,synonymous_variant,p.%3D,ENST00000295148,;MFSD2B,intron_variant,,ENST00000453731,;	574	63	78	SUCCESS
BIRC6	57448	.	GRCh37	2	32613893	32613893	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	28	151	0	ENST00000421745.2:c.724del	p.Ile242Ter	p.I242*	ENST00000421745	NM_016252.3	241	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS33175.2	721	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCAAGAAAATA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	4/74	.	.	.	.	.	.	.	.	.	4/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	deletion	BIRC6,frameshift_variant,p.Ile242Ter,ENST00000421745,;BIRC6,non_coding_transcript_exon_variant,,ENST00000466527,;	855	151	180	SUCCESS
DNAH6	1768	.	GRCh37	2	84932627	84932627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	18	62	0	ENST00000237449.6:c.8483C>A	p.Ala2828Glu	p.A2828E	ENST00000237449		2828	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS46348.1	8483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCAAAGC	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000374045	.	52/77	.	.	.	.	.	.	.	.	.	52/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Ala2828Glu,ENST00000237449,;DNAH6,missense_variant,p.Ala2828Glu,ENST00000389394,;	8620	62	99	SUCCESS
NXPE3	91775	.	GRCh37	3	101540640	101540640	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200530322	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	39	136	0	ENST00000273347.5:c.1522A>G	p.Ile508Val	p.I508V	ENST00000273347	NM_145037.2	508	Atc/Gtc	0	.	G:0.0008	.	G:0	.	G	I/V	protein_coding	YES	CCDS2945.1	1522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCATCCTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR16165:SF1,hmmpanther:PTHR16165	G:0	.	ENSP00000396421	G:0	5/5	.	.	.	.	.	.	.	.	rs200530322	5/5	PASS	ENST00000422132	Transcript	.	G:0.0002	ENSG00000144815	28238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	G:0	tolerated(1)	.	NXPE3_HUMAN	NXPE3	HGNC	C9K0A9_HUMAN	.	UPI000006D090	SNV	NXPE3,missense_variant,p.Ile508Val,ENST00000491511,;NXPE3,missense_variant,p.Ile508Val,ENST00000422132,;NXPE3,missense_variant,p.Ile508Val,ENST00000273347,;NXPE3,missense_variant,p.Ile508Val,ENST00000477909,;RP11-49I4.3,downstream_gene_variant,,ENST00000490324,;	1719	136	144	SUCCESS
MORC1	27136	.	GRCh37	3	108723940	108723940	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	101	0	ENST00000232603.5:c.1990G>T	p.Val664Phe	p.V664F	ENST00000232603	NM_014429.3	664	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS2955.1	1990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACATTTT	NONE	.	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	.	.	ENSP00000232603	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000232603	Transcript	.	.	ENSG00000114487	7198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	deleterious(0)	.	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,missense_variant,p.Val643Phe,ENST00000483760,;MORC1,missense_variant,p.Val664Phe,ENST00000232603,;	2073	101	114	SUCCESS
CASR	846	.	GRCh37	3	121980604	121980604	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	19	172	0	ENST00000490131.1:c.722A>T	p.Glu241Val	p.E241V	ENST00000490131	NM_000388.3	241	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54632.1	722	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGAACTCA	NONE	.	.	hmmpanther:PTHR24061:SF358,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00592	.	.	ENSP00000420194	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.199)	.	tolerated(0.07)	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,missense_variant,p.Glu241Val,ENST00000296154,;CASR,missense_variant,p.Glu241Val,ENST00000498619,;CASR,missense_variant,p.Glu241Val,ENST00000490131,;CASR,downstream_gene_variant,,ENST00000490186,;	1160	172	202	SUCCESS
PDIA5	10954	.	GRCh37	3	122849447	122849447	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	24	102	0	ENST00000316218.7:c.894C>A	p.Val298=	p.V298=	ENST00000316218	NM_006810.3	298	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3020.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGTCATGTT	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_patterns:PS00194,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF85,PROSITE_profiles:PS51352	.	.	ENSP00000323313	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000316218	Transcript	.	.	ENSG00000065485	24811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIA5_HUMAN	PDIA5	HGNC	C9JY10_HUMAN	.	UPI000013148A	SNV	PDIA5,synonymous_variant,p.%3D,ENST00000316218,;PDIA5,intron_variant,,ENST00000472319,;PDIA5,intron_variant,,ENST00000489923,;	989	102	114	SUCCESS
CPNE4	131034	.	GRCh37	3	131624109	131624109	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	26	123	0	ENST00000429747.1:c.179A>T	p.Glu60Val	p.E60V	ENST00000429747	NM_130808.1	60	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3072.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTCAAAC	NONE	.	.	hmmpanther:PTHR10857:SF4,hmmpanther:PTHR10857,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000421705	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000512055	Transcript	.	.	ENSG00000196353	2317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	CPNE4_HUMAN	CPNE4	HGNC	Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN	.	UPI0000127C14	SNV	CPNE4,missense_variant,p.Glu78Val,ENST00000502818,;CPNE4,missense_variant,p.Glu60Val,ENST00000429747,;CPNE4,missense_variant,p.Glu60Val,ENST00000505957,;CPNE4,missense_variant,p.Glu60Val,ENST00000514999,;CPNE4,missense_variant,p.Glu60Val,ENST00000505881,;CPNE4,missense_variant,p.Glu60Val,ENST00000512055,;CPNE4,missense_variant,p.Glu78Val,ENST00000512332,;CPNE4,missense_variant,p.Glu60Val,ENST00000511604,;	2306	123	124	SUCCESS
ACAD11	84129	.	GRCh37	3	132337601	132337601	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs542883164	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	60	193	0	ENST00000264990.6:c.1291G>A	p.Glu431Lys	p.E431K	ENST00000264990	NM_032169.4	431	Gag/Aag	0	.	T:0.0008	.	T:0	.	T	E/K	protein_coding	YES	CCDS3074.1	1291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTCGACTT	NONE	by1000G	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF195,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645	T:0	.	ENSP00000264990	T:0	11/20	.	.	.	.	.	.	.	.	rs542883164	11/20	PASS	ENST00000264990	Transcript	.	T:0.0002	ENSG00000240303	30211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.464)	T:0	deleterious(0.02)	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,missense_variant,p.Glu431Lys,ENST00000481970,;ACAD11,missense_variant,p.Glu431Lys,ENST00000264990,;ACAD11,missense_variant,p.Glu431Lys,ENST00000355458,;ACAD11,intron_variant,,ENST00000545291,;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;ACKR4,3_prime_UTR_variant,,ENST00000509820,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000487024,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,intron_variant,,ENST00000485198,;ACAD11,upstream_gene_variant,,ENST00000510100,;	2263	193	224	SUCCESS
ATP11B	23200	.	GRCh37	3	182566270	182566270	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778203393	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	53	179	0	ENST00000323116.5:c.776C>T	p.Ala259Val	p.A259V	ENST00000323116	NM_014616.2	259	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33896.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCGGTAT	NONE	byFrequency	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049471	.	.	ENSP00000321195	.	10/30	.	.	.	.	.	.	.	.	rs778203393,COSM1041714	10/30	PASS	ENST00000323116	Transcript	.	.	ENSG00000058063	13553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.954)	.	tolerated(0.08)	0,1	AT11B_HUMAN	ATP11B	HGNC	B4E3T1_HUMAN	.	UPI000004124E	SNV	ATP11B,missense_variant,p.Ala259Val,ENST00000323116,;ATP11B,missense_variant,p.Ala60Val,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000482794,;RP11-225N10.3,upstream_gene_variant,,ENST00000604149,;	1036	179	218	SUCCESS
HRG	3273	.	GRCh37	3	186383833	186383833	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781333544	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	102	0	ENST00000232003.4:c.13A>G	p.Ile5Val	p.I5V	ENST00000232003	NM_000412.2	5	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3280.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCATTGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF3	.	.	ENSP00000232003	.	1/7	.	.	.	.	.	.	.	.	rs781333544	1/7	PASS	ENST00000232003	Transcript	.	.	ENSG00000113905	5181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.75)	.	HRG_HUMAN	HRG	HGNC	.	.	UPI000012CBC3	SNV	HRG,missense_variant,p.Ile5Val,ENST00000232003,;RP11-134F2.2,upstream_gene_variant,,ENST00000428501,;RP11-134F2.2,upstream_gene_variant,,ENST00000455926,;HRG,intron_variant,,ENST00000468154,;HRG,upstream_gene_variant,,ENST00000495413,;	93	102	104	SUCCESS
SNRK	54861	.	GRCh37	3	43344896	43344896	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	46	138	0	ENST00000296088.7:c.201G>T	p.Met67Ile	p.M67I	ENST00000296088	NM_017719.4	67	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS43075.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGAAACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000296088	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000296088	Transcript	.	.	ENSG00000163788	30598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	SNRK_HUMAN	SNRK	HGNC	E7EUC4_HUMAN	.	UPI00000558E4	SNV	SNRK,missense_variant,p.Met67Ile,ENST00000296088,;SNRK,missense_variant,p.Met67Ile,ENST00000454177,;SNRK,missense_variant,p.Met67Ile,ENST00000429705,;SNRK,intron_variant,,ENST00000437827,;SNRK,non_coding_transcript_exon_variant,,ENST00000462810,;	505	138	153	SUCCESS
USP4	7375	.	GRCh37	3	49362451	49362451	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs117411669	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	39	123	0	ENST00000265560.4:c.509G>T	p.Arg170Leu	p.R170L	ENST00000265560	NM_003363.3	170	cGg/cTg	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS2793.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCGCATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Pfam_domain:PF14836	T:0.002	.	ENSP00000265560	T:0	5/22	.	.	.	.	.	.	.	.	rs117411669	5/22	PASS	ENST00000265560	Transcript	.	T:0.0004	ENSG00000114316	12627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	T:0	deleterious(0)	.	UBP4_HUMAN	USP4	HGNC	.	.	UPI000013D63C	SNV	USP4,missense_variant,p.Arg170Leu,ENST00000351842,;USP4,missense_variant,p.Arg170Leu,ENST00000265560,;USP4,missense_variant,p.Arg170Leu,ENST00000415188,;USP4,missense_variant,p.Arg170Leu,ENST00000416417,;USP4,non_coding_transcript_exon_variant,,ENST00000491791,;USP4,non_coding_transcript_exon_variant,,ENST00000464168,;USP4,intron_variant,,ENST00000486549,;	556	123	142	SUCCESS
FAM208A	0	.	GRCh37	3	56680996	56680996	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771218781	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	29	194	0	ENST00000493960.2:c.1769C>T	p.Ser590Leu	p.S590L	ENST00000493960	NM_001112736.1	590	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS46853.1	1769	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGAGTAT	NONE	.	.	hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	14/24	.	.	.	.	.	.	.	.	rs771218781	14/24	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	tolerated(0.06)	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Ser590Leu,ENST00000355628,;FAM208A,missense_variant,p.Ser590Leu,ENST00000493960,;FAM208A,missense_variant,p.Ser194Leu,ENST00000431842,;	1780	194	233	SUCCESS
SLBP	7884	.	GRCh37	4	1701341	1701341	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs200085408	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	46	182	0	ENST00000489418.1:c.429C>G	p.Asn143Lys	p.N143K	ENST00000489418	NM_006527.2	143	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS3350.1	429	RADIA|MUTECT|MUSE|VARSCANS	.	CCATAGTTGAT	NONE	.	.	hmmpanther:PTHR17408,hmmpanther:PTHR17408:SF4,Pfam_domain:PF15247	.	.	ENSP00000417686	.	5/8	.	.	.	.	.	.	.	.	rs200085408	5/8	PASS	ENST00000489418	Transcript	.	.	ENSG00000163950	10904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.562)	.	deleterious(0)	.	SLBP_HUMAN	SLBP	HGNC	Q53XR2_HUMAN,B3KSC5_HUMAN	.	UPI0000135A0D	SNV	SLBP,missense_variant,p.Asn143Lys,ENST00000489418,;SLBP,missense_variant,p.Asn98Lys,ENST00000483348,;SLBP,missense_variant,p.Asn104Lys,ENST00000429429,;SLBP,missense_variant,p.Asn151Lys,ENST00000480936,;SLBP,missense_variant,p.Asn108Lys,ENST00000488267,;SLBP,missense_variant,p.Asn150Lys,ENST00000318386,;	796	182	250	SUCCESS
CSN3	1448	.	GRCh37	4	71115098	71115098	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	10	70	1	ENST00000304954.3:c.471T>C	p.Thr157=	p.T157=	ENST00000304954	NM_005212.2	157	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3538.1	471	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACTCCAGA	NONE	.	.	hmmpanther:PTHR11470:SF2,hmmpanther:PTHR11470,Pfam_domain:PF00997,PIRSF_domain:PIRSF002374	.	.	ENSP00000304822	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000304954	Transcript	.	.	ENSG00000171209	2446	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CASK_HUMAN	CSN3	HGNC	.	.	UPI000004F262	SNV	CSN3,synonymous_variant,p.%3D,ENST00000304954,;	557	71	105	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130764892	130764892	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	7	170	0	ENST00000509018.1:c.4483C>T	p.Pro1495Ser	p.P1495S	ENST00000509018	NM_016340.5	1495	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	.	4633	MUTECT|MUSE	.	CTTGGGTGAGG	NONE	.	.	.	.	.	ENSP00000426948	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000514667	Transcript	.	.	ENSG00000273217	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.09)	.	.	CTC-432M15.3	Clone_based_vega_gene	E9PCH4_HUMAN,D6RB02_HUMAN	.	UPI0001D3B6D1	SNV	CTC-432M15.3,missense_variant,p.Pro1545Ser,ENST00000514667,;RAPGEF6,missense_variant,p.Pro1503Ser,ENST00000296859,;RAPGEF6,missense_variant,p.Pro1495Ser,ENST00000509018,;RAPGEF6,intron_variant,,ENST00000307984,;RAPGEF6,intron_variant,,ENST00000507093,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000512611,;	4695	170	194	SUCCESS
MED7	9443	.	GRCh37	5	156565994	156565994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	9	173	0	ENST00000286317.5:c.449C>A	p.Ala150Asp	p.A150D	ENST00000286317	NM_004270.4	150	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4334.1	449	MUTECT|MUSE	.	TCTCAGCTGTT	NONE	.	.	hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498,Pfam_domain:PF05983,Superfamily_domains:SSF140718	.	.	ENSP00000286317	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000286317	Transcript	.	.	ENSG00000155868	2378	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	MED7_HUMAN	MED7	HGNC	Q6IAZ5_HUMAN,E5RIE8_HUMAN	.	UPI0000128565	SNV	MED7,missense_variant,p.Ala150Asp,ENST00000524289,;MED7,missense_variant,p.Ala150Asp,ENST00000420343,;MED7,missense_variant,p.Ala150Asp,ENST00000286317,;HAVCR2,intron_variant,,ENST00000524219,;ITK,upstream_gene_variant,,ENST00000521769,;	831	173	226	SUCCESS
ADAMTS6	11174	.	GRCh37	5	64748641	64748641	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	254	55	240	0	ENST00000381055.3:c.736G>A	p.Val246Met	p.V246M	ENST00000381055	NM_197941.2	246	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3983.2	736	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACTGATC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Gene3D:3.40.390.10	.	.	ENSP00000370443	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000381055	Transcript	.	.	ENSG00000049192	222	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.2)	.	deleterious(0)	.	ATS6_HUMAN	ADAMTS6	HGNC	Q5IR90_HUMAN	.	UPI000050D3F1	SNV	ADAMTS6,missense_variant,p.Val246Met,ENST00000536360,;ADAMTS6,missense_variant,p.Val246Met,ENST00000464680,;ADAMTS6,missense_variant,p.Val246Met,ENST00000381055,;ADAMTS6,missense_variant,p.Val246Met,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000502886,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;	1593	240	309	SUCCESS
GFM2	84340	.	GRCh37	5	74037421	74037421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	310	93	315	1	ENST00000296805.3:c.863A>G	p.Asp288Gly	p.D288G	ENST00000296805	NM_032380.4	288	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4023.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATCCAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296805	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000296805	Transcript	.	.	ENSG00000164347	29682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RRF2M_HUMAN	GFM2	HGNC	D6RF75_HUMAN	.	UPI0000129CA7	SNV	GFM2,missense_variant,p.Asp246Gly,ENST00000509097,;GFM2,missense_variant,p.Asp288Gly,ENST00000296805,;GFM2,missense_variant,p.Asp288Gly,ENST00000345239,;GFM2,missense_variant,p.Asp288Gly,ENST00000427854,;GFM2,missense_variant,p.Asp288Gly,ENST00000509430,;GFM2,upstream_gene_variant,,ENST00000515125,;GFM2,upstream_gene_variant,,ENST00000514734,;GFM2,non_coding_transcript_exon_variant,,ENST00000513331,;	1321	316	403	SUCCESS
LTV1	84946	.	GRCh37	6	144184607	144184607	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	72	193	0	ENST00000367576.5:c.1371A>G	p.Arg457=	p.R457=	ENST00000367576	NM_032860.3	457	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS5201.1	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAAGGCA	NONE	.	.	hmmpanther:PTHR21531,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000356548	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000367576	Transcript	.	.	ENSG00000135521	21173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTV1_HUMAN	LTV1	HGNC	.	.	UPI0000039EA5	SNV	LTV1,synonymous_variant,p.%3D,ENST00000367576,;ZC2HC1B,upstream_gene_variant,,ENST00000539295,;ZC2HC1B,upstream_gene_variant,,ENST00000237275,;RP3-468K18.6,upstream_gene_variant,,ENST00000604280,;	1505	193	247	SUCCESS
SASH1	23328	.	GRCh37	6	148846461	148846461	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1363377316	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	59	0	ENST00000367467.3:c.1244A>G	p.Asn415Ser	p.N415S	ENST00000367467	NM_015278.3	415	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS5212.1	1244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGAATCGCT	NONE	.	.	hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301,Pfam_domain:PF12485	.	.	ENSP00000356437	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.09)	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,missense_variant,p.Asn415Ser,ENST00000367467,;AL033378.1,upstream_gene_variant,,ENST00000411390,;	1719	59	62	SUCCESS
ARID1B	57492	.	GRCh37	6	157522125	157522125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	13	67	0	ENST00000346085.5:c.4397C>A	p.Ala1466Glu	p.A1466E	ENST00000346085	NM_020732.3	1466	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS55072.1	4397	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCAGCAC	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.228)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Ala1506Glu,ENST00000367148,;ARID1B,missense_variant,p.Ala1453Glu,ENST00000350026,;ARID1B,missense_variant,p.Ala975Glu,ENST00000414678,;ARID1B,missense_variant,p.Ala1448Glu,ENST00000275248,;ARID1B,missense_variant,p.Ala1466Glu,ENST00000346085,;	4398	67	117	SUCCESS
HIST1H4K	0	.	GRCh37	6	27799271	27799271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	38	207	0	ENST00000357549.2:c.35G>T	p.Gly12Val	p.G12V	ENST00000357549	NM_003541.2	12	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4631.1	35	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCCAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000350159	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357549	Transcript	.	.	ENSG00000197914	4784	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	H4_HUMAN	HIST1H4K	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4K,missense_variant,p.Gly12Val,ENST00000357549,;	35	207	231	SUCCESS
ZNF318	24149	.	GRCh37	6	43325451	43325451	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	66	0	ENST00000361428.2:c.601G>A	p.Gly201Ser	p.G201S	ENST00000361428	NM_014345.2	201	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4895.2	601	MUTECT|MUSE	.	AAGACCCCGAG	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Gly201Ser,ENST00000361428,;ZNF318,missense_variant,p.Gly201Ser,ENST00000318149,;ZNF318,missense_variant,p.Gly201Ser,ENST00000605935,;	679	66	103	SUCCESS
DEFB113	245927	.	GRCh37	6	49936572	49936572	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	94	0	ENST00000398718.1:c.67A>T	p.Lys23Ter	p.K23*	ENST00000398718	NM_001037729.1	23	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS43472.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTCTGTG	NONE	.	.	.	.	.	ENSP00000381703	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398718	Transcript	.	.	ENSG00000214642	18094	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DB113_HUMAN	DEFB113	HGNC	.	.	UPI00005E4A72	SNV	DEFB113,stop_gained,p.Lys23Ter,ENST00000398718,;DEFB114,upstream_gene_variant,,ENST00000322066,;	67	94	93	SUCCESS
BMP5	653	.	GRCh37	6	55639030	55639030	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	30	167	0	ENST00000370830.3:c.844A>G	p.Asn282Asp	p.N282D	ENST00000370830	NM_021073.2	282	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS4958.1	844	RADIA|MUTECT|MUSE|VARSCANS	.	TACGTTGATAC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139,Pfam_domain:PF00688	.	.	ENSP00000359866	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.95)	.	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,missense_variant,p.Asn282Asp,ENST00000370830,;BMP5,missense_variant,p.Asn282Asp,ENST00000446683,;	1543	167	220	SUCCESS
OFCC1	266553	.	GRCh37	6	9933543	9933543	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	53	0	ENST00000460363.2:c.13-2A>G		p.X5_splice	ENST00000460363		5		0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTGGAGG	NONE	.	.	.	.	.	ENSP00000419718	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000460363	Transcript	.	.	ENSG00000181355	21017	.	.	HIGH	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OFCC1	HGNC	Q8IZS0_HUMAN	.	UPI00000740B8	SNV	OFCC1,splice_acceptor_variant,,ENST00000316020,;OFCC1,splice_acceptor_variant,,ENST00000460363,;OFCC1,splice_acceptor_variant,,ENST00000491508,;OFCC1,upstream_gene_variant,,ENST00000492169,;OFCC1,splice_acceptor_variant,,ENST00000460066,;OFCC1,splice_acceptor_variant,,ENST00000472329,;OFCC1,splice_acceptor_variant,,ENST00000466385,;OFCC1,splice_acceptor_variant,,ENST00000492094,;OFCC1,upstream_gene_variant,,ENST00000486246,;OFCC1,upstream_gene_variant,,ENST00000487015,;OFCC1,upstream_gene_variant,,ENST00000469426,;	.	53	74	SUCCESS
CUL1	8454	.	GRCh37	7	148456419	148456422	+	frameshift_variant	Frame_Shift_Del	DEL	CTGT	CTGT	-	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	CTGT	CTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	128	33	108	0	ENST00000325222.4:c.511_514del	p.Leu171SerfsTer4	p.L171Sfs*4	ENST00000325222	NM_003592.2	169	gaCTGT/ga	0	.	.	.	.	.	-	DC/X	protein_coding	YES	CCDS34772.1	507-510	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAGACTGTCTGTT	NONE	.	.	hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF74788	.	.	ENSP00000326804	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000325222	Transcript	.	.	ENSG00000055130	2551	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CUL1_HUMAN	CUL1	HGNC	Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN	.	UPI00001286E6	deletion	CUL1,frameshift_variant,p.Leu171SerfsTer4,ENST00000602748,;CUL1,frameshift_variant,p.Leu171SerfsTer4,ENST00000325222,;CUL1,frameshift_variant,p.Leu171SerfsTer4,ENST00000409469,;	786-789	108	161	SUCCESS
SP4	6671	.	GRCh37	7	21469601	21469601	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767714920	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	41	125	0	ENST00000222584.3:c.818A>G	p.Asn273Ser	p.N273S	ENST00000222584	NM_003112.3	273	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS5373.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAACGTGG	NONE	byFrequency	.	hmmpanther:PTHR23235:SF5,hmmpanther:PTHR23235	.	.	ENSP00000222584	.	3/6	.	.	.	.	.	.	.	.	rs767714920	3/6	PASS	ENST00000222584	Transcript	.	.	ENSG00000105866	11209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.89)	.	SP4_HUMAN	SP4	HGNC	Q32M51_HUMAN	.	UPI000013C807	SNV	SP4,missense_variant,p.Asn273Ser,ENST00000222584,;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,;	1036	125	167	SUCCESS
DDX56	54606	.	GRCh37	7	44612257	44612257	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	48	128	0	ENST00000258772.5:c.470G>T	p.Arg157Leu	p.R157L	ENST00000258772	NM_001257189.1	157	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5492.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCACGAAGT	CODON|p.R157C|c.469C>T|4	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF96,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000258772	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000258772	Transcript	.	.	ENSG00000136271	18193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.18)	.	DDX56_HUMAN	DDX56	HGNC	G3V0G3_HUMAN	.	UPI0000037BB1	SNV	DDX56,missense_variant,p.Arg157Leu,ENST00000258772,;DDX56,missense_variant,p.Arg157Leu,ENST00000431640,;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,non_coding_transcript_exon_variant,,ENST00000485367,;DDX56,non_coding_transcript_exon_variant,,ENST00000467318,;DDX56,upstream_gene_variant,,ENST00000479602,;DDX56,missense_variant,p.Arg157Leu,ENST00000421223,;DDX56,missense_variant,p.Arg157Leu,ENST00000446987,;DDX56,missense_variant,p.Arg111Leu,ENST00000433257,;DDX56,synonymous_variant,p.%3D,ENST00000415758,;DDX56,non_coding_transcript_exon_variant,,ENST00000479440,;DDX56,upstream_gene_variant,,ENST00000473924,;	577	128	197	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72667574	72667574	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1502	60	1290	0	ENST00000425256.1:n.698A>T		p.*233*	ENST00000425256				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GTCACTTGAAC	NONE	.	.	.	.	.	.	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000449689,;	698	1290	1562	SUCCESS
PCLO	27445	.	GRCh37	7	82389961	82389961	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	375	107	374	0	ENST00000333891.9:c.15282T>C	p.Ser5094=	p.S5094=	ENST00000333891	NM_033026.5	5094	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47630.1	15282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGAGAATG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000334319	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;	15620	374	482	SUCCESS
VPS13B	157680	.	GRCh37	8	100829851	100829851	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	46	137	0	ENST00000358544.2:c.8256A>C	p.Gln2752His	p.Q2752H	ENST00000358544	NM_017890.4	2752	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS6280.1	8256	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAAGATGG	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	45/62	.	.	.	.	.	.	.	.	.	45/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.216)	.	tolerated(0.1)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Gln2752His,ENST00000358544,;VPS13B,missense_variant,p.Gln2727His,ENST00000357162,;VPS13B,3_prime_UTR_variant,,ENST00000395996,;	8367	137	220	SUCCESS
ANXA13	312	.	GRCh37	8	124705521	124705521	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs146521013	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	8	81	0	ENST00000419625.1:c.558G>A	p.Trp186Ter	p.W186*	ENST00000419625	NM_004306.2	186	tgG/tgA	0	A:0.0002	.	.	.	.	T	W/*	protein_coding	YES	CCDS34939.1	681	MUTECT|MUSE	.	GTGCCCCAGCG	NONE	.	.	hmmpanther:PTHR10502:SF105,hmmpanther:PTHR10502,Pfam_domain:PF00191,Gene3D:1.10.220.10,Superfamily_domains:SSF47874,Prints_domain:PR00196	.	A:0	ENSP00000262219	.	9/12	.	.	.	.	.	.	.	.	rs146521013	9/12	PASS	ENST00000262219	Transcript	.	.	ENSG00000104537	536	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANX13_HUMAN	ANXA13	HGNC	E5RIN3_HUMAN	.	UPI000016A41E	SNV	ANXA13,stop_gained,p.Trp227Ter,ENST00000262219,;ANXA13,stop_gained,p.Trp186Ter,ENST00000419625,;ANXA13,downstream_gene_variant,,ENST00000520519,;	749	81	158	SUCCESS
KCNK9	51305	.	GRCh37	8	140630800	140630800	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	41	0	ENST00000303015.1:c.826C>T	p.Pro276Ser	p.P276S	ENST00000303015	NM_016601.2	276	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6377.1	826	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGATGT	NONE	.	.	hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Prints_domain:PR01585	.	.	ENSP00000430676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000520439	Transcript	1	.	ENSG00000169427	6283	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.32)	.	KCNK9_HUMAN	KCNK9	HGNC	.	.	UPI000000D8AC	SNV	KCNK9,missense_variant,p.Pro276Ser,ENST00000520439,;KCNK9,missense_variant,p.Pro276Ser,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Pro276Ser,ENST00000522317,;	890	42	29	SUCCESS
EPPK1	83481	.	GRCh37	8	144940354	144940354	+	synonymous_variant	Silent	SNP	G	G	A	rs375604799	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	23	0	ENST00000525985.1:c.7068C>T	p.Arg2356=	p.R2356=	ENST00000525985	NM_031308.2	2356	cgC/cgT	0	A:0.0005	.	.	.	.	A	R	protein_coding	YES	.	7068	RADIA|MUSE	.	GGCACGCGGTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	A:0	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	rs375604799	2/2	common_in_exac	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,synonymous_variant,p.%3D,ENST00000525985,;	7140	23	21	SUCCESS
OPLAH	26873	.	GRCh37	8	145112137	145112137	+	synonymous_variant	Silent	SNP	C	C	T	rs546232581	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	71	0	ENST00000426825.1:c.1509G>A	p.Leu503=	p.L503=	ENST00000426825	NM_017570.3	503	ctG/ctA	0	.	A:0	.	A:0.0014	.	T	L	protein_coding	YES	.	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCAGGGC	NONE	by1000G	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF01968	A:0	.	ENSP00000475943	A:0	11/28	.	.	.	.	.	.	.	.	rs546232581	11/28	PASS	ENST00000426825	Transcript	1	A:0.0002	ENSG00000178814	8149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,synonymous_variant,p.%3D,ENST00000426825,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000567871,;OPLAH,upstream_gene_variant,,ENST00000527993,;OPLAH,upstream_gene_variant,,ENST00000531027,;	1591	71	39	SUCCESS
CPSF1	29894	.	GRCh37	8	145634528	145634528	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	39	0	ENST00000349769.3:c.15C>A	p.Tyr5Ter	p.Y5*	ENST00000349769	NM_013291.2	5	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS34966.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGTACAC	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2	.	.	ENSP00000339353	.	2/38	.	.	.	.	.	.	.	.	.	2/38	PASS	ENST00000349769	Transcript	.	.	ENSG00000071894	2324	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSF1_HUMAN	CPSF1	HGNC	Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN	.	UPI00001282EE	SNV	CPSF1,stop_gained,p.Tyr5Ter,ENST00000349769,;CPSF1,stop_gained,p.Tyr5Ter,ENST00000531042,;SLC39A4,downstream_gene_variant,,ENST00000276833,;SLC39A4,downstream_gene_variant,,ENST00000301305,;GS1-393G12.14,upstream_gene_variant,,ENST00000607491,;SLC39A4,downstream_gene_variant,,ENST00000532718,;SLC39A4,downstream_gene_variant,,ENST00000531013,;SLC39A4,downstream_gene_variant,,ENST00000527148,;SLC39A4,downstream_gene_variant,,ENST00000530807,;SLC39A4,downstream_gene_variant,,ENST00000531789,;SLC39A4,downstream_gene_variant,,ENST00000529462,;	110	39	26	SUCCESS
TEX15	56154	.	GRCh37	8	30701385	30701385	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1324219823	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	96	1	ENST00000256246.2:c.5149C>T	p.Arg1717Ter	p.R1717*	ENST00000256246	NM_031271.3	1717	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS6080.1	5149	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGCAATG	SITE|p.R1717*|c.5149C>T|3	.	.	Pfam_domain:PF15326,hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	.	.	ENSP00000256246	.	1/4	.	.	.	.	.	.	.	.	COSM176686	1/4	PASS	ENST00000256246	Transcript	.	.	ENSG00000133863	11738	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,stop_gained,p.Arg1717Ter,ENST00000256246,;TEX15,downstream_gene_variant,,ENST00000523186,;	5224	97	86	SUCCESS
IKBKB	3551	.	GRCh37	8	42176090	42176090	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	92	0	ENST00000520810.1:c.1261C>G	p.Leu421Val	p.L421V	ENST00000520810	NM_001556.2	421	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS6128.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCTCGCC	BUFFER|p.A422T|c.1264G>A|4	.	.	hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969	.	.	ENSP00000430684	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000520810	Transcript	1	.	ENSG00000104365	5960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	IKKB_HUMAN	IKBKB	HGNC	E5RGW5_HUMAN	.	UPI0000033729	SNV	IKBKB,missense_variant,p.Leu421Val,ENST00000520810,;IKBKB,missense_variant,p.Leu419Val,ENST00000520835,;IKBKB,missense_variant,p.Leu362Val,ENST00000416505,;IKBKB,missense_variant,p.Leu198Val,ENST00000379708,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,non_coding_transcript_exon_variant,,ENST00000517502,;IKBKB,upstream_gene_variant,,ENST00000522785,;IKBKB,missense_variant,p.Leu421Val,ENST00000520655,;IKBKB,missense_variant,p.Leu421Val,ENST00000521661,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;IKBKB,3_prime_UTR_variant,,ENST00000518679,;IKBKB,3_prime_UTR_variant,,ENST00000523517,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,non_coding_transcript_exon_variant,,ENST00000517917,;IKBKB,non_coding_transcript_exon_variant,,ENST00000520201,;IKBKB,downstream_gene_variant,,ENST00000518647,;IKBKB,downstream_gene_variant,,ENST00000522545,;IKBKB,upstream_gene_variant,,ENST00000519938,;IKBKB,upstream_gene_variant,,ENST00000523018,;IKBKB,upstream_gene_variant,,ENST00000522133,;	1447	92	75	SUCCESS
COPS5	10987	.	GRCh37	8	67974167	67974167	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757811563	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	65	0	ENST00000357849.4:c.65C>T	p.Ala22Val	p.A22V	ENST00000357849	NM_006837.2	22	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6198.1	65	MUTECT|MUSE|VARSCANS	.	TCTGAGCTTCC	NONE	.	.	hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF6	.	.	ENSP00000350512	.	1/8	.	.	.	.	.	.	.	.	rs757811563	1/8	PASS	ENST00000357849	Transcript	.	.	ENSG00000121022	2240	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(1)	.	CSN5_HUMAN	COPS5	HGNC	E5RHF2_HUMAN	.	UPI000006D7AB	SNV	COPS5,missense_variant,p.Ala22Val,ENST00000357849,;COPS5,intron_variant,,ENST00000517736,;COPS5,intron_variant,,ENST00000518747,;CSPP1,upstream_gene_variant,,ENST00000262210,;CSPP1,upstream_gene_variant,,ENST00000412460,;CSPP1,upstream_gene_variant,,ENST00000521919,;AC109335.1,downstream_gene_variant,,ENST00000578628,;COPS5,non_coding_transcript_exon_variant,,ENST00000519963,;COPS5,non_coding_transcript_exon_variant,,ENST00000519057,;COPS5,intron_variant,,ENST00000517793,;COPS5,downstream_gene_variant,,ENST00000518768,;COPS5,missense_variant,p.Ala22Val,ENST00000523890,;COPS5,missense_variant,p.Ala22Val,ENST00000517406,;COPS5,missense_variant,p.Ala22Val,ENST00000518374,;COPS5,non_coding_transcript_exon_variant,,ENST00000521509,;CSPP1,upstream_gene_variant,,ENST00000519701,;CSPP1,upstream_gene_variant,,ENST00000519163,;COPS5,upstream_gene_variant,,ENST00000521386,;	386	65	87	SUCCESS
CRISPLD1	83690	.	GRCh37	8	75927121	75927121	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	30	134	0	ENST00000262207.4:c.701G>A	p.Gly234Asp	p.G234D	ENST00000262207	NM_031461.5	234	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS6219.1	701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGCTGTA	NONE	.	.	hmmpanther:PTHR10334:SF73,hmmpanther:PTHR10334,Gene3D:3.40.33.10	.	.	ENSP00000262207	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000262207	Transcript	.	.	ENSG00000121005	18206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.01)	.	CRLD1_HUMAN	CRISPLD1	HGNC	E5RJS4_HUMAN,B7Z8V9_HUMAN	.	UPI00000422F5	SNV	CRISPLD1,missense_variant,p.Gly234Asp,ENST00000262207,;CRISPLD1,missense_variant,p.Gly48Asp,ENST00000517786,;CRISPLD1,missense_variant,p.Gly46Asp,ENST00000523524,;CRISPLD1,downstream_gene_variant,,ENST00000520277,;CRISPLD1,downstream_gene_variant,,ENST00000519798,;	1169	134	136	SUCCESS
ODF2	4957	.	GRCh37	9	131256869	131256872	+	frameshift_variant	Frame_Shift_Del	DEL	TGAG	TGAG	-	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	TGAG	TGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	57	0	ENST00000434106.3:c.1835_1838del	p.Glu612AlafsTer50	p.E612Afs*50	ENST00000434106	NM_153433.1	611	gcTGAG/gc	0	.	.	.	.	.	-	AE/X	protein_coding	YES	CCDS56588.1	1833-1836	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGCTGAGTGCCA	BUFFER|p.A584A|c.1752G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162	.	.	ENSP00000403453	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000434106	Transcript	.	.	ENSG00000136811	8114	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ODFP2_HUMAN	ODF2	HGNC	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN	.	UPI0000211922	deletion	ODF2,frameshift_variant,p.Glu656AlafsTer26,ENST00000372814,;ODF2,frameshift_variant,p.Glu32AlafsTer50,ENST00000483070,;ODF2,frameshift_variant,p.Glu531AlafsTer26,ENST00000448249,;ODF2,frameshift_variant,p.Glu607AlafsTer50,ENST00000351030,;ODF2,frameshift_variant,p.Glu588AlafsTer50,ENST00000393527,;ODF2,frameshift_variant,p.Glu612AlafsTer50,ENST00000604420,;ODF2,frameshift_variant,p.Glu588AlafsTer50,ENST00000444119,;ODF2,frameshift_variant,p.Glu612AlafsTer50,ENST00000434106,;ODF2,frameshift_variant,p.Glu593AlafsTer26,ENST00000372791,;ODF2,frameshift_variant,p.Glu593AlafsTer26,ENST00000546203,;ODF2,frameshift_variant,p.Glu607AlafsTer50,ENST00000372807,;ODF2,frameshift_variant,p.Glu612AlafsTer26,ENST00000393533,;ODF2,upstream_gene_variant,,ENST00000488909,;	2196-2199	57	87	SUCCESS
SETX	23064	.	GRCh37	9	135204112	135204112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	27	166	0	ENST00000224140.5:c.2873T>C	p.Ile958Thr	p.I958T	ENST00000224140	NM_015046.5	958	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6947.1	2873	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTATCTGA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336	.	.	ENSP00000224140	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000224140	Transcript	.	.	ENSG00000107290	445	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated(0.06)	.	SETX_HUMAN	SETX	HGNC	.	.	UPI0000210D28	SNV	SETX,missense_variant,p.Ile958Thr,ENST00000372169,;SETX,missense_variant,p.Ile958Thr,ENST00000393220,;SETX,missense_variant,p.Ile958Thr,ENST00000224140,;	3056	166	191	SUCCESS
CACNA1B	774	.	GRCh37	9	140991051	140991051	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	59	1	ENST00000371372.1:c.5210A>G	p.Asp1737Gly	p.D1737G	ENST00000371372	NM_001243812.1	1737	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS59522.1	5210	RADIA|VARSCANS	.	ATACGACCCGG	NONE	.	.	hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,PROSITE_profiles:PS50222	.	.	ENSP00000360423	.	37/47	.	.	.	.	.	.	.	.	.	37/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.263)	.	deleterious(0.01)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Asp102Gly,ENST00000413253,;CACNA1B,missense_variant,p.Asp1738Gly,ENST00000371355,;CACNA1B,missense_variant,p.Asp1736Gly,ENST00000371357,;CACNA1B,missense_variant,p.Asp931Gly,ENST00000277549,;CACNA1B,missense_variant,p.Asp1737Gly,ENST00000277551,;CACNA1B,missense_variant,p.Asp101Gly,ENST00000371365,;CACNA1B,missense_variant,p.Asp1735Gly,ENST00000371363,;CACNA1B,missense_variant,p.Asp1737Gly,ENST00000371372,;	5355	60	73	SUCCESS
CNTLN	54875	.	GRCh37	9	17409335	17409335	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs369583267	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	261	19	222	0	ENST00000380647.3:c.2660T>C	p.Ile887Thr	p.I887T	ENST00000380647		887	aTt/aCt	0	C:0.0006	.	.	.	.	C	I/T	protein_coding	YES	CCDS43789.1	2660	MUTECT|MUSE	.	AATTATTGTAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	C:0	ENSP00000370021	.	16/26	.	.	.	.	.	.	.	.	rs369583267	16/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.481)	.	tolerated(0.08)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Ile887Thr,ENST00000425824,;CNTLN,missense_variant,p.Ile887Thr,ENST00000262360,;CNTLN,missense_variant,p.Ile887Thr,ENST00000380647,;	2744	222	280	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18474223	18474223	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	59	0	ENST00000380548.4:c.-8A>G		p.*3*	ENST00000380548	NM_001040272.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47954.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGATCCAA	NONE	.	.	.	.	.	ENSP00000369921	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,5_prime_UTR_variant,,ENST00000380566,;ADAMTSL1,5_prime_UTR_variant,,ENST00000380548,;ADAMTSL1,5_prime_UTR_variant,,ENST00000380570,;ADAMTSL1,5_prime_UTR_variant,,ENST00000327883,;ADAMTSL1,5_prime_UTR_variant,,ENST00000431052,;ADAMTSL1,upstream_gene_variant,,ENST00000276935,;	332	59	87	SUCCESS
DENND4C	55667	.	GRCh37	9	19346399	19346399	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775981878	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	7	144	1	ENST00000602925.1:c.3485A>G	p.Asp1162Gly	p.D1162G	ENST00000602925	NM_017925.5	1162	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6491.3	3485	MUTECT|MUSE	.	AAGTGATAGTA	NONE	byFrequency	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17	.	.	ENSP00000473565	.	22/32	.	.	.	.	.	.	.	.	rs775981878	22/32	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.13)	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,missense_variant,p.Asp926Gly,ENST00000380432,;DENND4C,missense_variant,p.Asp1211Gly,ENST00000434457,;DENND4C,missense_variant,p.Asp1162Gly,ENST00000602925,;DENND4C,missense_variant,p.Asp198Gly,ENST00000380427,;DENND4C,upstream_gene_variant,,ENST00000380424,;DENND4C,upstream_gene_variant,,ENST00000361024,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	3901	145	188	SUCCESS
TEK	7010	.	GRCh37	9	27190548	27190548	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	17	171	0	ENST00000380036.4:c.1349C>G	p.Ala450Gly	p.A450G	ENST00000380036	NM_000459.3	450	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS6519.1	1349	MUTECT|MUSE|VARSCANS	.	GAATGCCCCAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000369375	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.61)	.	deleterious(0)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Ala407Gly,ENST00000406359,;TEK,missense_variant,p.Ala303Gly,ENST00000519097,;TEK,missense_variant,p.Ala260Gly,ENST00000519080,;TEK,missense_variant,p.Ala450Gly,ENST00000380036,;	1791	171	174	SUCCESS
WNK2	65268	.	GRCh37	9	96021717	96021717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	28	0	ENST00000297954.4:c.2887C>A	p.Pro963Thr	p.P963T	ENST00000297954	NM_001282394.1	963	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	2887	RADIA|MUTECT|MUSE	.	CGCTGCCCCCT	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,Low_complexity_(Seg):seg	.	.	ENSP00000297954	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Pro959Thr,ENST00000432730,;WNK2,missense_variant,p.Pro575Thr,ENST00000427277,;WNK2,missense_variant,p.Pro575Thr,ENST00000349097,;WNK2,missense_variant,p.Pro567Thr,ENST00000411624,;WNK2,missense_variant,p.Pro963Thr,ENST00000297954,;WNK2,missense_variant,p.Pro963Thr,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,upstream_gene_variant,,ENST00000448251,;WNK2,downstream_gene_variant,,ENST00000448039,;WNK2,downstream_gene_variant,,ENST00000464625,;WNK2,upstream_gene_variant,,ENST00000478583,;	2887	28	19	SUCCESS
GLA	2717	.	GRCh37	X	100658874	100658874	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	125	0	ENST00000218516.3:c.294C>A	p.Pro98=	p.P98=	ENST00000218516	NM_000169.2	98	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14484.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGGGAGC	NONE	.	.	hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF15,PROSITE_patterns:PS00512,Gene3D:3.20.20.70,Pfam_domain:PF02065,Superfamily_domains:SSF51445	.	.	ENSP00000218516	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000218516	Transcript	.	.	ENSG00000102393	4296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AGAL_HUMAN	GLA	HGNC	Q6LER7_HUMAN,Q53Y83_HUMAN	.	UPI0000033A30	SNV	GLA,synonymous_variant,p.%3D,ENST00000218516,;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,;HNRNPH2,upstream_gene_variant,,ENST00000316594,;GLA,non_coding_transcript_exon_variant,,ENST00000480513,;GLA,non_coding_transcript_exon_variant,,ENST00000479445,;GLA,non_coding_transcript_exon_variant,,ENST00000486121,;GLA,upstream_gene_variant,,ENST00000468823,;GLA,synonymous_variant,p.%3D,ENST00000493905,;	316	125	94	SUCCESS
RBMXL3	139804	.	GRCh37	X	114424946	114424946	+	synonymous_variant	Silent	SNP	C	C	T	rs1266034139	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	11	132	0	ENST00000424776.3:c.942C>T	p.Ala314=	p.A314=	ENST00000424776	NM_001145346.1	314	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55478.1	942	MUTECT|MUSE|VARSCANS	.	GCTGCCCCTGT	BUFFER|p.A313T|c.937G>A|3	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,synonymous_variant,p.%3D,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	984	132	123	SUCCESS
FATE1	89885	.	GRCh37	X	150884642	150884642	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	36	164	0	ENST00000370350.3:c.51A>G	p.Ala17=	p.A17=	ENST00000370350	NM_033085.2	17	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS14700.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGAAGA	NONE	.	.	hmmpanther:PTHR21128	.	.	ENSP00000359375	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000370350	Transcript	.	.	ENSG00000147378	24683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FATE1_HUMAN	FATE1	HGNC	.	.	UPI0000073DB2	SNV	FATE1,synonymous_variant,p.%3D,ENST00000417321,;FATE1,synonymous_variant,p.%3D,ENST00000370350,;	136	164	135	SUCCESS
GABRQ	55879	.	GRCh37	X	151815446	151815446	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	56	172	0	ENST00000370306.2:c.344A>C	p.Lys115Thr	p.K115T	ENST00000370306	NM_018558.3	115	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS14707.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAAAGATT	NONE	.	.	Prints_domain:PR00252,Superfamily_domains:0038932,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	.	.	ENSP00000359329	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.04)	.	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,missense_variant,p.Lys115Thr,ENST00000370306,;	364	172	141	SUCCESS
MXRA5	25878	.	GRCh37	X	3241431	3241431	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	78	271	0	ENST00000217939.6:c.2295T>A	p.Phe765Leu	p.F765L	ENST00000217939	NM_015419.3	765	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS14124.1	2295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCAAACAC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Phe765Leu,ENST00000217939,;	2450	271	201	SUCCESS
TAF1	6872	.	GRCh37	X	70607151	70607151	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	81	244	0	ENST00000373790.4:c.2264A>G	p.His755Arg	p.H755R	ENST00000373790	NM_004606.3	755	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14412.1	2327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCATAAGA	NONE	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	15/38	.	.	.	.	.	.	.	.	.	15/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	deleterious(0)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.His755Arg,ENST00000373790,;TAF1,missense_variant,p.His755Arg,ENST00000449580,;TAF1,missense_variant,p.His776Arg,ENST00000276072,;TAF1,missense_variant,p.His776Arg,ENST00000423759,;TAF1,non_coding_transcript_exon_variant,,ENST00000472567,;TAF1,upstream_gene_variant,,ENST00000478305,;TAF1,upstream_gene_variant,,ENST00000474917,;	2337	244	227	SUCCESS
SORCS3	22986	.	GRCh37	10	106959827	106959827	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs202188584	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	199	0	ENST00000369699.4:c.-63C>T		p.*21*	ENST00000369699		694		0	A:0.0002	A:0	.	A:0	.	T	R/W	protein_coding	YES	CCDS7558.1	2080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGGCAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,SMART_domains:SM00602	A:0	A:0.0001	ENSP00000358715	A:0	15/27	.	.	.	.	.	.	.	.	rs202188584,COSM1126888,COSM1345684	15/27	PASS	ENST00000369701	Transcript	.	A:0.0002	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.987)	A:0.001	deleterious(0)	0,1,1	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Arg694Trp,ENST00000369701,;SORCS3,5_prime_UTR_variant,,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	2307	199	69	SUCCESS
MSMB	4477	.	GRCh37	10	51562361	51562361	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	88	0	ENST00000358559.2:c.306C>T	p.Asp102=	p.D102=	ENST00000358559	NM_002443.3	102	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS7235.1	306	MUTECT|MUSE	.	AAGGACCCAAA	NONE	.	.	hmmpanther:PTHR10500,hmmpanther:PTHR10500:SF2,Pfam_domain:PF05825	.	.	ENSP00000351363	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358559	Transcript	1	.	ENSG00000138294	7372	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSMB_HUMAN	MSMB	HGNC	.	.	UPI000012F617	SNV	MSMB,missense_variant,p.Thr67Ile,ENST00000298239,;MSMB,synonymous_variant,p.%3D,ENST00000358559,;NCOA4,upstream_gene_variant,,ENST00000430396,;NCOA4,upstream_gene_variant,,ENST00000452682,;NCOA4,upstream_gene_variant,,ENST00000414907,;NCOA4,upstream_gene_variant,,ENST00000374087,;NCOA4,upstream_gene_variant,,ENST00000438493,;MSMB,non_coding_transcript_exon_variant,,ENST00000466268,;MSMB,non_coding_transcript_exon_variant,,ENST00000478719,;NCOA4,upstream_gene_variant,,ENST00000498586,;	393	88	88	SUCCESS
PCDH15	65217	.	GRCh37	10	55955547	55955547	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	40	130	0	ENST00000320301.6:c.1201C>G	p.Gln401Glu	p.Q401E	ENST00000320301	NM_033056.3	401	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS44404.1	1201	RADIA|MUTECT|MUSE	.	GCCTTGATAAC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.69)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Gln401Glu,ENST00000437009,;PCDH15,missense_variant,p.Gln379Glu,ENST00000395433,;PCDH15,missense_variant,p.Gln401Glu,ENST00000395445,;PCDH15,missense_variant,p.Gln401Glu,ENST00000320301,;PCDH15,missense_variant,p.Gln5Glu,ENST00000409834,;PCDH15,missense_variant,p.Gln364Glu,ENST00000395432,;PCDH15,missense_variant,p.Gln401Glu,ENST00000373955,;PCDH15,missense_variant,p.Gln379Glu,ENST00000373957,;PCDH15,missense_variant,p.Gln401Glu,ENST00000395440,;PCDH15,missense_variant,p.Gln401Glu,ENST00000361849,;PCDH15,missense_variant,p.Gln401Glu,ENST00000395438,;PCDH15,missense_variant,p.Gln401Glu,ENST00000395446,;PCDH15,missense_variant,p.Gln406Glu,ENST00000414778,;PCDH15,missense_variant,p.Gln401Glu,ENST00000373965,;PCDH15,missense_variant,p.Gln401Glu,ENST00000395430,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Gln401Glu,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	1596	130	81	SUCCESS
ATP5C1	0	.	GRCh37	10	7839122	7839122	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	80	0	ENST00000356708.7:c.204A>G	p.Ile68Met	p.I68M	ENST00000356708	NM_001001973.1	68	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS31142.1	204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAATATATGG	NONE	.	.	hmmpanther:PTHR11693:SF22,hmmpanther:PTHR11693,TIGRFAM_domain:TIGR01146,Gene3D:3.40.1380.10,Pfam_domain:PF00231,Superfamily_domains:SSF52943	.	.	ENSP00000349142	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000356708	Transcript	.	.	ENSG00000165629	833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.14)	.	ATPG_HUMAN	ATP5C1	HGNC	Q8TAS0_HUMAN,B4DL14_HUMAN,B4DFE6_HUMAN	.	UPI0000126574	SNV	ATP5C1,missense_variant,p.Ile68Met,ENST00000335698,;ATP5C1,missense_variant,p.Ile68Met,ENST00000356708,;ATP5C1,missense_variant,p.Ile21Met,ENST00000541227,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000460820,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000493053,;ATP5C1,intron_variant,,ENST00000465936,;ATP5C1,upstream_gene_variant,,ENST00000473809,;ATP5C1,downstream_gene_variant,,ENST00000462760,;ATP5C1,downstream_gene_variant,,ENST00000460362,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000472202,;	283	80	85	SUCCESS
TAF3	83860	.	GRCh37	10	8006085	8006085	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	47	242	1	ENST00000344293.5:c.612G>T	p.Thr204=	p.T204=	ENST00000344293	NM_031923.3	204	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41487.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGCTAGA	NONE	.	.	hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321	.	.	ENSP00000340271	.	3/7	.	.	.	.	.	.	.	.	COSM381791	3/7	PASS	ENST00000344293	Transcript	.	.	ENSG00000165632	17303	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TAF3_HUMAN	TAF3	HGNC	.	.	UPI00004588FA	SNV	TAF3,synonymous_variant,p.%3D,ENST00000344293,;	818	244	134	SUCCESS
LDB3	11155	.	GRCh37	10	88478564	88478564	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs755094215	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	142	0	ENST00000361373.4:c.1939del	p.Leu647SerfsTer56	p.L647Sfs*56	ENST00000361373	NM_007078.2	646	agC/ag	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS53550.1	1953	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACAGCCTCTT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24214:SF9,hmmpanther:PTHR24214,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000401437	.	12/14	.	.	.	.	.	.	.	.	rs755094215	12/14	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	deletion	LDB3,frameshift_variant,p.Leu390SerfsTer56,ENST00000352360,;LDB3,frameshift_variant,p.Leu647SerfsTer56,ENST00000361373,;LDB3,frameshift_variant,p.Leu537SerfsTer56,ENST00000458213,;LDB3,frameshift_variant,p.Leu537SerfsTer56,ENST00000263066,;LDB3,frameshift_variant,p.Leu652SerfsTer56,ENST00000429277,;LDB3,non_coding_transcript_exon_variant,,ENST00000477489,;	2098	142	79	SUCCESS
CUL5	8065	.	GRCh37	11	107920728	107920728	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	98	0	ENST00000393094.2:c.346A>T	p.Ile116Phe	p.I116F	ENST00000393094	NM_003478.3	116	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS31668.1	346	MUTECT|MUSE	.	TAGAGATTACT	NONE	.	.	hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF65,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF74788	.	.	ENSP00000376808	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000393094	Transcript	.	.	ENSG00000166266	2556	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.05)	.	CUL5_HUMAN	CUL5	HGNC	L0L6D8_HUMAN,L0L6C1_HUMAN	.	UPI00001380B0	SNV	CUL5,missense_variant,p.Ile116Phe,ENST00000393094,;CUL5,intron_variant,,ENST00000532782,;CUL5,missense_variant,p.Ile116Phe,ENST00000531427,;CUL5,3_prime_UTR_variant,,ENST00000532064,;CUL5,downstream_gene_variant,,ENST00000526303,;	962	98	113	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120350778	120350778	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	5	117	1	ENST00000397843.2:c.3876G>C	p.Gln1292His	p.Q1292H	ENST00000397843	NM_015313.2	1292	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS41727.1	3876	MUTECT|MUSE	.	CCGCAGACAGA	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8	.	.	ENSP00000380942	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.713)	.	tolerated_low_confidence(0.12)	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,missense_variant,p.Gln1189His,ENST00000532993,;ARHGEF12,missense_variant,p.Gln1292His,ENST00000397843,;ARHGEF12,missense_variant,p.Gln1273His,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000526067,;ARHGEF12,downstream_gene_variant,,ENST00000528681,;ARHGEF12,downstream_gene_variant,,ENST00000529970,;	4042	118	119	SUCCESS
ZNF202	7753	.	GRCh37	11	123601551	123601551	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	152	0	ENST00000336139.4:c.46G>A	p.Glu16Lys	p.E16K	ENST00000336139		16	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8443.1	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTCTTCTT	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	.	.	ENSP00000337724	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,missense_variant,p.Glu16Lys,ENST00000529691,;ZNF202,missense_variant,p.Glu16Lys,ENST00000336139,;ZNF202,missense_variant,p.Glu16Lys,ENST00000530393,;ZNF202,missense_variant,p.Glu16Lys,ENST00000528306,;ZNF202,missense_variant,p.Glu16Lys,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,non_coding_transcript_exon_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	409	152	88	SUCCESS
SLC17A6	57084	.	GRCh37	11	22380967	22380967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	85	0	ENST00000263160.3:c.467G>T	p.Gly156Val	p.G156V	ENST00000263160	NM_020346.2	156	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7856.1	467	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCGGAGCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000263160	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.859)	.	deleterious(0)	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,missense_variant,p.Gly156Val,ENST00000263160,;CTD-2140G10.4,downstream_gene_variant,,ENST00000534543,;SLC17A6,non_coding_transcript_exon_variant,,ENST00000534115,;	904	85	84	SUCCESS
OR52M1	119772	.	GRCh37	11	4566482	4566482	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	6	107	1	ENST00000360213.1:c.62G>A	p.Gly21Glu	p.G21E	ENST00000360213	NM_001004137.1	21	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS31353.1	62	MUTECT|MUSE	.	CCCAGGGCTGG	NONE	.	.	hmmpanther:PTHR26450:SF129,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000353343	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360213	Transcript	.	.	ENSG00000197790	15225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O52M1_HUMAN	OR52M1	HGNC	.	.	UPI0000041C62	SNV	OR52M1,missense_variant,p.Gly21Glu,ENST00000360213,;	62	108	89	SUCCESS
OR51G1	79324	.	GRCh37	11	4944787	4944787	+	synonymous_variant	Silent	SNP	A	A	G	rs768780787	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	8	180	0	ENST00000321961.2:c.783T>C	p.Ser261=	p.S261=	ENST00000321961	NM_001005237.1	261	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31366.1	783	MUTECT|MUSE	.	ACAAGAGACAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	rs768780787,COSM927716	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,synonymous_variant,p.%3D,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	851	180	107	SUCCESS
OR9G1	390174	.	GRCh37	11	56468383	56468383	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	13	219	0	ENST00000312153.1:c.520G>A	p.Asp174Asn	p.D174N	ENST00000312153	NM_001005213.1	174	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS31536.1	520	MUTECT|MUSE|VARSCANS	.	TCATTGATGAC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.029)	.	tolerated(0.9)	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,missense_variant,p.Asp174Asn,ENST00000312153,;	520	220	152	SUCCESS
GLYAT	10249	.	GRCh37	11	58477973	58477973	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	60	0	ENST00000344743.3:c.488+90A>G		p.*163*	ENST00000344743	NM_201648.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7970.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATTGATTGTAG	NONE	.	.	.	.	.	ENSP00000340200	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344743	Transcript	.	.	ENSG00000149124	13734	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLYAT_HUMAN	GLYAT	HGNC	.	.	UPI00003667C7	SNV	GLYAT,3_prime_UTR_variant,,ENST00000278400,;GLYAT,intron_variant,,ENST00000529732,;GLYAT,intron_variant,,ENST00000586098,;GLYAT,intron_variant,,ENST00000344743,;	.	60	47	SUCCESS
MYO7A	4647	.	GRCh37	11	76893104	76893104	+	synonymous_variant	Silent	SNP	C	C	T	rs544100095	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	202	0	ENST00000409709.3:c.3012C>T	p.Phe1004=	p.F1004=	ENST00000409709	NM_000260.3	1004	ttC/ttT	0	.	T:0	.	T:0	.	T	F	protein_coding	YES	CCDS53683.1	3012	RADIA|MUSE	.	AAGTTCGCGGC	NONE	by1000G	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258	T:0	.	ENSP00000386331	T:0	24/49	.	.	.	.	.	.	.	.	rs544100095,COSM2018733	24/49	PASS	ENST00000409709	Transcript	.	T:0.0002	ENSG00000137474	7606	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	T:0.001	.	0,1	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,synonymous_variant,p.%3D,ENST00000458169,;MYO7A,synonymous_variant,p.%3D,ENST00000409893,;MYO7A,synonymous_variant,p.%3D,ENST00000409619,;MYO7A,synonymous_variant,p.%3D,ENST00000409709,;MYO7A,synonymous_variant,p.%3D,ENST00000458637,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000467137,;	3284	202	35	SUCCESS
ACACB	32	.	GRCh37	12	109629713	109629713	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	30	216	0	ENST00000338432.7:c.2357T>A	p.Met786Lys	p.M786K	ENST00000338432		786	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS31898.1	2357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGATGTTCA	NONE	.	.	hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84	.	.	ENSP00000341044	.	15/53	.	.	.	.	.	.	.	.	.	15/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Met786Lys,ENST00000377854,;ACACB,missense_variant,p.Met786Lys,ENST00000377848,;ACACB,missense_variant,p.Met786Lys,ENST00000338432,;ACACB,non_coding_transcript_exon_variant,,ENST00000544651,;	2476	217	167	SUCCESS
TAS2R10	50839	.	GRCh37	12	10978718	10978718	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	88	0	ENST00000240619.2:c.151G>A	p.Ala51Thr	p.A51T	ENST00000240619	NM_023921.1	51	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8634.1	151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGCTAAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF26,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000240619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000240619	Transcript	.	.	ENSG00000121318	14918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	T2R10_HUMAN	TAS2R10	HGNC	Q50KS2_HUMAN	.	UPI0000038B12	SNV	TAS2R10,missense_variant,p.Ala51Thr,ENST00000240619,;PRR4,intron_variant,,ENST00000538332,;RP11-144O23.8,downstream_gene_variant,,ENST00000541449,;	240	88	83	SUCCESS
OAS2	4939	.	GRCh37	12	113444385	113444385	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	37	117	0	ENST00000342315.4:c.1636G>T	p.Val546Leu	p.V546L	ENST00000342315	NM_016817.2	546	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS31906.1	1636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGTGAAG	NONE	.	.	Superfamily_domains:SSF81631,Pfam_domain:PF10421,Gene3D:1px5A02,hmmpanther:PTHR11258:SF3,hmmpanther:PTHR11258	.	.	ENSP00000342278	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000342315	Transcript	.	.	ENSG00000111335	8087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.251)	.	deleterious(0.01)	.	OAS2_HUMAN	OAS2	HGNC	.	.	UPI000013CB0B	SNV	OAS2,missense_variant,p.Val546Leu,ENST00000392583,;OAS2,missense_variant,p.Val546Leu,ENST00000342315,;OAS2,downstream_gene_variant,,ENST00000552756,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,downstream_gene_variant,,ENST00000548941,;	1850	117	107	SUCCESS
TBX3	6926	.	GRCh37	12	115118767	115118767	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768160499	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	104	322	1	ENST00000257566.3:c.574G>T	p.Ala192Ser	p.A192S	ENST00000257566	NM_016569.3	192	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9176.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCGGGGC	NONE	byFrequency	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,PROSITE_patterns:PS01264,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000257566	.	2/8	.	.	.	.	.	.	.	.	rs768160499	2/8	PASS	ENST00000257566	Transcript	.	.	ENSG00000135111	11602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.24)	.	TBX3_HUMAN	TBX3	HGNC	.	.	UPI0000136AA0	SNV	TBX3,missense_variant,p.Ala192Ser,ENST00000349155,;TBX3,missense_variant,p.Ala192Ser,ENST00000257566,;TBX3,non_coding_transcript_exon_variant,,ENST00000552054,;TBX3,upstream_gene_variant,,ENST00000548503,;	964	323	275	SUCCESS
CIT	11113	.	GRCh37	12	120222843	120222843	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	129	0	ENST00000261833.7:c.1322C>A	p.Pro441His	p.P441H	ENST00000261833	NM_007174.2	441	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS55891.1	1322	MUTECT|MUSE	.	TGGCAGGGGAG	NONE	.	.	PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26	.	.	ENSP00000376306	.	11/48	.	.	.	.	.	.	.	.	.	11/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.4)	.	deleterious(0)	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Pro69His,ENST00000392520,;CIT,missense_variant,p.Pro441His,ENST00000261833,;CIT,missense_variant,p.Pro441His,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000539413,;CIT,upstream_gene_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000488203,;	1378	129	96	SUCCESS
EPS8	2059	.	GRCh37	12	15813579	15813579	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	64	0	ENST00000281172.5:c.906A>G	p.Lys302=	p.K302=	ENST00000281172	NM_004447.5	302	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS31753.1	906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTTTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21	.	.	ENSP00000281172	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000281172	Transcript	.	.	ENSG00000151491	3420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPS8_HUMAN	EPS8	HGNC	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN	.	UPI000012A0BC	SNV	EPS8,synonymous_variant,p.%3D,ENST00000540613,;EPS8,synonymous_variant,p.%3D,ENST00000543612,;EPS8,synonymous_variant,p.%3D,ENST00000281172,;EPS8,synonymous_variant,p.%3D,ENST00000543523,;EPS8,synonymous_variant,p.%3D,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,3_prime_UTR_variant,,ENST00000546261,;EPS8,non_coding_transcript_exon_variant,,ENST00000535734,;EPS8,downstream_gene_variant,,ENST00000508018,;	1343	64	65	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18747452	18747452	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	32	113	1	ENST00000266497.5:c.3913C>T	p.Leu1305Phe	p.L1305F	ENST00000266497		1305	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44839.1	3913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCTCTCT	NONE	.	.	PROSITE_profiles:PS50195,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000404845	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,missense_variant,p.Leu1346Phe,ENST00000538779,;PIK3C2G,missense_variant,p.Leu1305Phe,ENST00000266497,;PIK3C2G,missense_variant,p.Leu1305Phe,ENST00000433979,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	4029	115	156	SUCCESS
IFLTD1	0	.	GRCh37	12	25705915	25705915	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	12	183	0	ENST00000282881.6:c.26+88A>G		p.*9*	ENST00000282881	NM_152590.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44849.1	.	MUTECT|MUSE	.	GTCTCTTTTCT	NONE	.	.	.	.	.	ENSP00000407353	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000458174	Transcript	.	.	ENSG00000152936	26683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ILFT1_HUMAN	IFLTD1	HGNC	H0YFE3_HUMAN,F5H8G2_HUMAN,F5H719_HUMAN,F5H5I3_HUMAN,F5H3Q3_HUMAN	.	UPI0000E004B3	SNV	IFLTD1,5_prime_UTR_variant,,ENST00000458174,;IFLTD1,5_prime_UTR_variant,,ENST00000413632,;IFLTD1,intron_variant,,ENST00000545543,;IFLTD1,intron_variant,,ENST00000282881,;IFLTD1,intron_variant,,ENST00000540106,;IFLTD1,intron_variant,,ENST00000538178,;IFLTD1,intron_variant,,ENST00000542224,;IFLTD1,intron_variant,,ENST00000445693,;IFLTD1,intron_variant,,ENST00000539744,;	224	183	213	SUCCESS
TMTC2	160335	.	GRCh37	12	83290361	83290361	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	14	52	0	ENST00000321196.3:c.1419G>A	p.Arg473=	p.R473=	ENST00000321196	NM_152588.1	473	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9025.1	1419	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGAATGG	NONE	.	.	hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083	.	.	ENSP00000322300	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,synonymous_variant,p.%3D,ENST00000548305,;TMTC2,synonymous_variant,p.%3D,ENST00000321196,;TMTC2,synonymous_variant,p.%3D,ENST00000549919,;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;	2126	52	110	SUCCESS
FREM2	341640	.	GRCh37	13	39266353	39266353	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	183	0	ENST00000280481.7:c.4872C>A	p.Thr1624=	p.T1624=	ENST00000280481	NM_207361.4	1624	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31960.1	4872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCCATAC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	5088	183	102	SUCCESS
EML1	2009	.	GRCh37	14	100361092	100361092	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	98	0	ENST00000262233.6:c.674G>T	p.Trp225Leu	p.W225L	ENST00000262233	NM_004434.2	225	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS32154.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGGGTGT	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,Pfam_domain:PF03451,Superfamily_domains:SSF50998	.	.	ENSP00000334314	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000334192	Transcript	.	.	ENSG00000066629	3330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.475)	.	deleterious(0)	.	EMAL1_HUMAN	EML1	HGNC	G3V4U5_HUMAN,F8W717_HUMAN	.	UPI00004A074E	SNV	EML1,missense_variant,p.Trp213Leu,ENST00000327921,;EML1,missense_variant,p.Trp244Leu,ENST00000334192,;EML1,missense_variant,p.Trp225Leu,ENST00000262233,;EML1,missense_variant,p.Trp212Leu,ENST00000554479,;EML1,missense_variant,p.Trp194Leu,ENST00000556714,;EML1,upstream_gene_variant,,ENST00000554386,;EML1,upstream_gene_variant,,ENST00000555812,;EML1,non_coding_transcript_exon_variant,,ENST00000555277,;EML1,upstream_gene_variant,,ENST00000554553,;	865	98	61	SUCCESS
OR4K2	390431	.	GRCh37	14	20344515	20344515	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	204	29	317	1	ENST00000298642.2:c.89T>G	p.Val30Gly	p.V30G	ENST00000298642	NM_001005501.1	30	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS32023.1	89	RADIA|MUTECT|MUSE|VARSCANS	.	TATGGTGTTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000298642	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298642	Transcript	.	.	ENSG00000165762	14728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.097)	.	tolerated(0.06)	.	OR4K2_HUMAN	OR4K2	HGNC	.	.	UPI0000041B4D	SNV	OR4K2,missense_variant,p.Val30Gly,ENST00000298642,;	125	319	234	SUCCESS
SRSF5	6430	.	GRCh37	14	70237779	70237779	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	77	0	ENST00000394366.2:c.508A>T	p.Asn170Tyr	p.N170Y	ENST00000394366	NM_001039465.1	170	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS32109.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAAATGGG	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR10548:SF81,hmmpanther:PTHR10548,PROSITE_profiles:PS50102	.	.	ENSP00000452123	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000553521	Transcript	.	.	ENSG00000100650	10787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	tolerated(0.06)	.	SRSF5_HUMAN	SRSF5	HGNC	Q86U32_HUMAN,G3V5K8_HUMAN	.	UPI00001358C0	SNV	SRSF5,missense_variant,p.Asn170Tyr,ENST00000553521,;SRSF5,missense_variant,p.Asn167Tyr,ENST00000553635,;SRSF5,missense_variant,p.Asn170Tyr,ENST00000557154,;SRSF5,missense_variant,p.Asn170Tyr,ENST00000394366,;SLC10A1,downstream_gene_variant,,ENST00000216540,;SRSF5,downstream_gene_variant,,ENST00000554021,;SRSF5,downstream_gene_variant,,ENST00000553369,;SRSF5,downstream_gene_variant,,ENST00000451983,;SRSF5,downstream_gene_variant,,ENST00000553548,;SRSF5,downstream_gene_variant,,ENST00000555349,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556647,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556587,;SRSF5,3_prime_UTR_variant,,ENST00000555547,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554929,;SRSF5,non_coding_transcript_exon_variant,,ENST00000557460,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554465,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556184,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556330,;SRSF5,downstream_gene_variant,,ENST00000555412,;SRSF5,downstream_gene_variant,,ENST00000556436,;SRSF5,downstream_gene_variant,,ENST00000557435,;	1961	77	85	SUCCESS
TRIP11	9321	.	GRCh37	14	92436115	92436115	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	8	240	0	ENST00000267622.4:c.5842C>G	p.Leu1948Val	p.L1948V	ENST00000267622	NM_004239.3	1948	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS9899.1	5842	MUTECT|MUSE	.	TTTCAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18921:SF2,hmmpanther:PTHR18921	.	.	ENSP00000267622	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000267622	Transcript	1	.	ENSG00000100815	12305	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.972)	.	deleterious(0.02)	.	TRIPB_HUMAN	TRIP11	HGNC	G3V4R7_HUMAN	.	UPI000013D767	SNV	TRIP11,missense_variant,p.Leu1664Val,ENST00000554357,;TRIP11,missense_variant,p.Leu1948Val,ENST00000267622,;	6216	240	199	SUCCESS
EID1	23741	.	GRCh37	15	49170689	49170689	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	111	0	ENST00000530028.2:c.316G>C	p.Glu106Gln	p.E106Q	ENST00000530028	NM_014335.2	106	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS53941.1	316	MUTECT|MUSE	.	ACTGGGAGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15556:SF5,hmmpanther:PTHR15556	.	.	ENSP00000431162	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530028	Transcript	.	.	ENSG00000255302	1191	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.603)	.	tolerated(0.33)	.	EID1_HUMAN	EID1	HGNC	.	.	UPI0000073CFD	SNV	EID1,missense_variant,p.Glu84Gln,ENST00000560490,;EID1,missense_variant,p.Glu106Gln,ENST00000530028,;SHC4,intron_variant,,ENST00000332408,;SHC4,upstream_gene_variant,,ENST00000537958,;SHC4,upstream_gene_variant,,ENST00000558220,;SHC4,upstream_gene_variant,,ENST00000396535,;EID1,intron_variant,,ENST00000558295,;SHC4,upstream_gene_variant,,ENST00000559289,;SHC4,upstream_gene_variant,,ENST00000557797,;AC012379.1,non_coding_transcript_exon_variant,,ENST00000441252,;	607	111	46	SUCCESS
USP10	9100	.	GRCh37	16	84801856	84801856	+	synonymous_variant	Silent	SNP	G	G	A	rs185085167	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	159	0	ENST00000219473.7:c.1890G>A	p.Thr630=	p.T630=	ENST00000219473	NM_005153.2	630	acG/acA	0	A:0	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS45537.1	1890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGTTGCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF69,Pfam_domain:PF00443,Superfamily_domains:SSF54001	A:0.001	A:0.0002	ENSP00000219473	A:0	11/14	.	.	.	.	.	.	.	.	rs185085167	11/14	PASS	ENST00000219473	Transcript	.	A:0.0002	ENSG00000103194	12608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	UBP10_HUMAN	USP10	HGNC	Q6P2I0_HUMAN	.	UPI00001379EB	SNV	USP10,missense_variant,p.Val202Ile,ENST00000569038,;USP10,synonymous_variant,p.%3D,ENST00000570053,;USP10,synonymous_variant,p.%3D,ENST00000570191,;USP10,synonymous_variant,p.%3D,ENST00000219473,;USP10,upstream_gene_variant,,ENST00000569925,;USP10,upstream_gene_variant,,ENST00000567526,;USP10,3_prime_UTR_variant,,ENST00000563048,;USP10,3_prime_UTR_variant,,ENST00000540269,;USP10,downstream_gene_variant,,ENST00000563433,;	2003	159	86	SUCCESS
MYH8	4626	.	GRCh37	17	10296222	10296222	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	137	0	ENST00000403437.2:c.5389C>G	p.Gln1797Glu	p.Q1797E	ENST00000403437	NM_002472.2	1797	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS11153.1	5389	MUTECT|MUSE	.	ATGCTGCAGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000384330	.	37/40	.	.	.	.	.	.	.	.	.	37/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.73)	.	deleterious(0.03)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Gln1797Glu,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5484	137	31	SUCCESS
MYO18A	399687	.	GRCh37	17	27421037	27421037	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	98	0	ENST00000527372.1:c.4782T>A	p.Asp1594Glu	p.D1594E	ENST00000527372	NM_078471.3	1594	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS45642.1	4782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCATCCCG	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000437073	.	31/42	.	.	.	.	.	.	.	.	.	31/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	tolerated(0.49)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Asp1594Glu,ENST00000527372,;MYO18A,missense_variant,p.Asp1594Glu,ENST00000354329,;MYO18A,missense_variant,p.Asp1594Glu,ENST00000531253,;MYO18A,intron_variant,,ENST00000533112,;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000530557,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,downstream_gene_variant,,ENST00000533652,;MYO18A,downstream_gene_variant,,ENST00000532143,;	4963	98	55	SUCCESS
LRRC37B	114659	.	GRCh37	17	30376212	30376212	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	405	593	701	1	ENST00000341671.7:c.2475C>T	p.Thr825=	p.T825=	ENST00000341671	NM_052888.2	825	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32609.1	2475	RADIA|MUTECT|VARSCANS	.	CGGACCTTGAA	NONE	.	.	Pfam_domain:PF14914,hmmpanther:PTHR23045:SF5,hmmpanther:PTHR23045	.	.	ENSP00000340519	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000341671	Transcript	.	.	ENSG00000185158	29070	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LR37B_HUMAN	LRRC37B	HGNC	J3QL10_HUMAN,F5H5K1_HUMAN	.	UPI000044D37B	SNV	LRRC37B,synonymous_variant,p.%3D,ENST00000582117,;LRRC37B,synonymous_variant,p.%3D,ENST00000327564,;LRRC37B,synonymous_variant,p.%3D,ENST00000584368,;LRRC37B,synonymous_variant,p.%3D,ENST00000394713,;LRRC37B,synonymous_variant,p.%3D,ENST00000543378,;LRRC37B,synonymous_variant,p.%3D,ENST00000341671,;LRRC37B,3_prime_UTR_variant,,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000579766,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000579094,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000581086,;LRRC37B,downstream_gene_variant,,ENST00000578118,;LRRC37B,downstream_gene_variant,,ENST00000583758,;LRRC37B,downstream_gene_variant,,ENST00000582815,;	2480	703	998	SUCCESS
SLFN13	146857	.	GRCh37	17	33770885	33770885	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370603090	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	46	77	0	ENST00000285013.6:c.1121G>A	p.Ser374Asn	p.S374N	ENST00000285013	NM_144682.5	374	aGt/aAt	0	T:0.0002	.	.	.	.	T	S/N	protein_coding	YES	CCDS32620.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACTGTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155	.	T:0.0001	ENSP00000285013	.	4/6	.	.	.	.	.	.	.	.	rs370603090	4/6	PASS	ENST00000285013	Transcript	.	.	ENSG00000154760	26481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.16)	.	SLN13_HUMAN	SLFN13	HGNC	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN	.	UPI000004E65A	SNV	SLFN13,missense_variant,p.Ser374Asn,ENST00000526861,;SLFN13,missense_variant,p.Ser374Asn,ENST00000285013,;SLFN13,missense_variant,p.Ser43Asn,ENST00000532210,;SLFN13,missense_variant,p.Ser56Asn,ENST00000360502,;SLFN13,missense_variant,p.Ser374Asn,ENST00000542635,;SLFN13,missense_variant,p.Ser56Asn,ENST00000534689,;SLFN13,missense_variant,p.Ser374Asn,ENST00000533791,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,non_coding_transcript_exon_variant,,ENST00000532774,;SLFN13,downstream_gene_variant,,ENST00000526483,;	1397	77	168	SUCCESS
TADA2A	6871	.	GRCh37	17	35836972	35836972	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	99	0	ENST00000394395.2:c.1217A>G	p.Asn406Ser	p.N406S	ENST00000394395	NM_001166105.1	406	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11319.1	1217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTAACAAGC	NONE	.	.	PROSITE_profiles:PS50934,hmmpanther:PTHR12374:SF18,hmmpanther:PTHR12374,Pfam_domain:PF04433,PIRSF_domain:PIRSF025024,Superfamily_domains:SSF46689	.	.	ENSP00000377918	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000394395	Transcript	.	.	ENSG00000108264	11531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.78)	.	TAD2A_HUMAN	TADA2A	HGNC	K7ER71_HUMAN,K7EME2_HUMAN,K7EKE3_HUMAN,B3KU13_HUMAN	.	UPI000013C868	SNV	TADA2A,missense_variant,p.Asn406Ser,ENST00000394395,;TADA2A,missense_variant,p.Asn406Ser,ENST00000225396,;TADA2A,non_coding_transcript_exon_variant,,ENST00000591933,;TADA2A,upstream_gene_variant,,ENST00000588405,;TADA2A,missense_variant,p.Asn406Ser,ENST00000490992,;TADA2A,downstream_gene_variant,,ENST00000587593,;	1390	99	145	SUCCESS
GOSR2	9570	.	GRCh37	17	45008537	45008537	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751458272	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	92	262	1	ENST00000393456.2:c.167G>A	p.Ser56Asn	p.S56N	ENST00000393456	NM_004287.3	56	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS11507.1	167	RADIA|VARSCANS	.	GTCCAGCAAGG	NONE	.	.	hmmpanther:PTHR21230:SF1,hmmpanther:PTHR21230,Gene3D:1.20.58.70,PIRSF_domain:PIRSF028865,Superfamily_domains:SSF47661	.	.	ENSP00000225567	.	3/7	.	.	.	.	.	.	.	.	rs751458272	3/7	PASS	ENST00000225567	Transcript	.	.	ENSG00000108433	4431	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.33)	.	GOSR2_HUMAN	GOSR2	HGNC	.	.	UPI000002AACF	SNV	GOSR2,missense_variant,p.Ser56Asn,ENST00000575949,;GOSR2,missense_variant,p.Ser56Asn,ENST00000415811,;GOSR2,missense_variant,p.Ser56Asn,ENST00000439730,;GOSR2,missense_variant,p.Ser56Asn,ENST00000393456,;GOSR2,missense_variant,p.Ser56Asn,ENST00000225567,;GOSR2,missense_variant,p.Ser38Asn,ENST00000572403,;GOSR2,missense_variant,p.Ser56Asn,ENST00000576910,;GOSR2,missense_variant,p.Ser54Asn,ENST00000570879,;RP11-156P1.2,missense_variant,p.Ser56Asn,ENST00000571841,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571048,;GOSR2,downstream_gene_variant,,ENST00000571658,;	198	263	226	SUCCESS
TP53	7157	.	GRCh37	17	7577142	7577142	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1057519990	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	105	0	ENST00000269305.4:c.796G>A	p.Gly266Arg	p.G266R	ENST00000269305	NM_001126112.2	266	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS11118.1	796	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCCCAGTA	SITE|p.G266R|c.796G>A|5,SITE|p.G266R|c.796G>A|7,SITE|p.G266R|c.796G>A|36,SITE|p.G266R|c.796G>A|6,CODON|p.0?|c.1_1182del1182|6,CODON|p.G266fs*79|c.797delG|3,CODON|p.G266E|c.797G>A|11,CODON|p.G266E|c.797G>A|7,CODON|p.G266V|c.797G>T|5,CODON|p.G266E|c.797G>A|17,CODON|p.G266E|c.797G>A|64,CODON|p.G266V|c.797G>T|18,CODON|p.G266V|c.797G>T|46,BUFFER|p.S269S|c.807C>T|3,BUFFER|p.S269N|c.806G>A|4,BUFFER|p.S269C|c.805A>T|4,BUFFER|p.S269G|c.805A>G|3,BUFFER|p.N268H|c.802A>C|3,BUFFER|p.R267R|c.801G>T|3,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267Q|c.800G>A|3,BUFFER|p.R267P|c.800G>C|18,BUFFER|p.R267Q|c.800G>A|13,BUFFER|p.R267L|c.800G>T|6,BUFFER|p.R267L|c.800G>T|7,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267W|c.799C>T|8,BUFFER|p.R267W|c.799C>T|4,BUFFER|p.R267W|c.799C>T|30,BUFFER|p.G266*|c.796G>T|13,BUFFER|p.G266R|c.796G>C|15,BUFFER|p.L265delL|c.792_794delACT|3,BUFFER|p.L265L|c.795G>A|3,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265P|c.794T>C|17,BUFFER|p.L265R|c.794T>G|4,BUFFER|p.L265P|c.794T>C|4,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265fs*80|c.793delC|3,BUFFER|p.L265delL|c.790_792delCTA|4,BUFFER|p.L265M|c.793C>A|5,BUFFER|p.L264fs*81|c.790delC|3,BUFFER|p.L264I|c.790C>A|3,BUFFER|p.L264L|c.790C>T|5,BUFFER|p.N263fs*82|c.787delA|3,BUFFER|p.G262delG|c.784_786delGGT|12,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262fs*83|c.784delG|3,BUFFER|p.G262V|c.785G>T|9,BUFFER|p.G262D|c.785G>A|6,BUFFER|p.G262V|c.785G>T|18,BUFFER|p.G262V|c.785G>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13776G>A,TP53_g.13776G>T,TP53_g.13776del,TP53_g.13776G>C,COSM44891,COSM10794,COSM11205,COSM45227,COSM1559475,COSM297539,COSM318165,COSM3388175,COSM1645293	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,0,0,0,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Gly266Arg,ENST00000420246,;TP53,missense_variant,p.Gly266Arg,ENST00000269305,;TP53,missense_variant,p.Gly134Arg,ENST00000509690,;TP53,missense_variant,p.Gly266Arg,ENST00000359597,;TP53,missense_variant,p.Gly266Arg,ENST00000445888,;TP53,missense_variant,p.Gly266Arg,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	986	105	49	SUCCESS
RNF213	57674	.	GRCh37	17	78318789	78318789	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	379	15	152	1	ENST00000582970.1:c.6654T>C	p.Phe2218=	p.F2218=	ENST00000582970	NM_001256071.1	2218	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS58606.1	6654	MUTECT|MUSE	.	AACTTTGCTCG	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	29/68	.	.	.	.	.	.	.	.	.	29/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,synonymous_variant,p.%3D,ENST00000582970,;RNF213,synonymous_variant,p.%3D,ENST00000336301,;RNF213,synonymous_variant,p.%3D,ENST00000508628,;	6797	153	394	SUCCESS
C18orf8	0	.	GRCh37	18	21089229	21089229	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	16	112	0	ENST00000269221.3:c.394A>G	p.Ile132Val	p.I132V	ENST00000269221	NM_013326.4	132	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32803.1	394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAATCGAA	NONE	.	.	hmmpanther:PTHR12897,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000269221	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000269221	Transcript	.	.	ENSG00000141452	24326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.78)	.	MIC1_HUMAN	C18orf8	HGNC	.	.	UPI000013D80D	SNV	C18orf8,missense_variant,p.Ile132Val,ENST00000269221,;C18orf8,missense_variant,p.Ile132Val,ENST00000592119,;C18orf8,intron_variant,,ENST00000590868,;NPC1,intron_variant,,ENST00000591107,;C18orf8,missense_variant,p.Ile132Val,ENST00000590870,;C18orf8,3_prime_UTR_variant,,ENST00000587690,;C18orf8,3_prime_UTR_variant,,ENST00000589860,;C18orf8,3_prime_UTR_variant,,ENST00000589215,;C18orf8,downstream_gene_variant,,ENST00000587153,;	504	112	115	SUCCESS
SMIM21	284274	.	GRCh37	18	73139543	73139543	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	26	0	ENST00000579022.1:c.-25C>T		p.*9*	ENST00000579022	NM_001037331.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32845.1	.	MUTECT|MUSE	.	CCAGTGAGAGG	NONE	.	.	.	.	.	ENSP00000462106	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000579022	Transcript	.	.	ENSG00000206026	27598	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMI21_HUMAN	SMIM21	HGNC	.	.	UPI00001B64CE	SNV	SMIM21,5_prime_UTR_variant,,ENST00000382638,;SMIM21,5_prime_UTR_variant,,ENST00000584508,;SMIM21,5_prime_UTR_variant,,ENST00000579022,;	116	26	32	SUCCESS
ILF3	3609	.	GRCh37	19	10791742	10791742	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	97	0	ENST00000590261.1:c.1005C>T	p.Gly335=	p.G335=	ENST00000590261		335	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45965.1	1005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGCATGGA	NONE	.	.	SMART_domains:SM00572,Pfam_domain:PF07528,hmmpanther:PTHR10910:SF34,hmmpanther:PTHR10910,PROSITE_profiles:PS51703	.	.	ENSP00000404121	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000449870	Transcript	.	.	ENSG00000129351	6038	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ILF3_HUMAN	ILF3	HGNC	K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN	.	UPI000059D66A	SNV	ILF3,synonymous_variant,p.%3D,ENST00000590261,;ILF3,synonymous_variant,p.%3D,ENST00000318511,;ILF3,synonymous_variant,p.%3D,ENST00000589998,;ILF3,synonymous_variant,p.%3D,ENST00000407004,;ILF3,synonymous_variant,p.%3D,ENST00000592763,;ILF3,synonymous_variant,p.%3D,ENST00000250241,;ILF3,synonymous_variant,p.%3D,ENST00000588657,;ILF3,synonymous_variant,p.%3D,ENST00000420083,;ILF3,synonymous_variant,p.%3D,ENST00000449870,;ILF3,downstream_gene_variant,,ENST00000589600,;ILF3,upstream_gene_variant,,ENST00000593061,;ILF3,upstream_gene_variant,,ENST00000590869,;ILF3,downstream_gene_variant,,ENST00000590009,;ILF3,3_prime_UTR_variant,,ENST00000585835,;ILF3,3_prime_UTR_variant,,ENST00000587840,;ILF3,3_prime_UTR_variant,,ENST00000589416,;ILF3,3_prime_UTR_variant,,ENST00000589485,;ILF3,non_coding_transcript_exon_variant,,ENST00000589173,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,upstream_gene_variant,,ENST00000591649,;ILF3,downstream_gene_variant,,ENST00000589052,;ILF3,downstream_gene_variant,,ENST00000587505,;	1322	97	31	SUCCESS
OR7A10	390892	.	GRCh37	19	14952528	14952528	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	8	119	0	ENST00000248058.1:c.162C>A	p.His54Gln	p.H54Q	ENST00000248058	NM_001005190.1	54	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS32936.1	162	MUTECT|MUSE	.	TGGAGGTGGGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000248058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248058	Transcript	.	.	ENSG00000127515	8356	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.249)	.	deleterious_low_confidence(0.02)	.	OR7AA_HUMAN	OR7A10	HGNC	.	.	UPI0000130B4B	SNV	OR7A10,missense_variant,p.His54Gln,ENST00000248058,;	162	119	108	SUCCESS
CPAMD8	27151	.	GRCh37	19	17068704	17068704	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	80	0	ENST00000443236.1:c.2376T>C	p.Thr792=	p.T792=	ENST00000443236	NM_015692.2	792	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS42519.1	2376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAAGTCCT	NONE	.	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412	.	.	ENSP00000402505	.	19/42	.	.	.	.	.	.	.	.	.	19/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,synonymous_variant,p.%3D,ENST00000443236,;CPAMD8,3_prime_UTR_variant,,ENST00000388925,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,3_prime_UTR_variant,,ENST00000291440,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000602159,;	2408	80	92	SUCCESS
HAUS8	93323	.	GRCh37	19	17160925	17160925	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs762500112	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	116	0	ENST00000253669.5:c.991C>G	p.Gln331Glu	p.Q331E	ENST00000253669		331	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS32948.1	991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGGTTTG	NONE	byFrequency	.	hmmpanther:PTHR31807	.	.	ENSP00000253669	.	11/11	.	.	.	.	.	.	.	.	rs762500112	11/11	PASS	ENST00000253669	Transcript	.	.	ENSG00000131351	30532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HAUS8_HUMAN	HAUS8	HGNC	.	.	UPI000015FED6	SNV	HAUS8,missense_variant,p.Gln331Glu,ENST00000253669,;HAUS8,missense_variant,p.Gln270Glu,ENST00000593360,;HAUS8,missense_variant,p.Gln330Glu,ENST00000448593,;CTD-2528A14.3,upstream_gene_variant,,ENST00000598893,;HAUS8,3_prime_UTR_variant,,ENST00000598517,;HAUS8,non_coding_transcript_exon_variant,,ENST00000597917,;HAUS8,downstream_gene_variant,,ENST00000601564,;HAUS8,downstream_gene_variant,,ENST00000597479,;	1182	116	42	SUCCESS
ZNF234	10780	.	GRCh37	19	44661594	44661594	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	93	0	ENST00000426739.2:c.1425G>A	p.Gln475=	p.Q475=	ENST00000426739	NM_006630.2	475	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS46101.1	1425	MUTECT|MUSE	.	CACCAGCTGAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF195,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000400878	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000426739	Transcript	.	.	ENSG00000263002	13027	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN234_HUMAN	ZNF234	HGNC	Q86WM3_HUMAN,Q86WM2_HUMAN	.	UPI0000070C95	SNV	ZNF234,synonymous_variant,p.%3D,ENST00000592437,;ZNF234,synonymous_variant,p.%3D,ENST00000426739,;	1683	93	47	SUCCESS
BIRC8	112401	.	GRCh37	19	53793408	53793408	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1225378522	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	55	173	0	ENST00000426466.1:c.220G>A	p.Gly74Arg	p.G74R	ENST00000426466	NM_033341.4	74	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12863.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCCCTTCT	NONE	.	.	hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,Gene3D:1.10.1170.10,Superfamily_domains:SSF57924	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.03)	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,missense_variant,p.Gly74Arg,ENST00000426466,;	1468	174	135	SUCCESS
LILRA2	11027	.	GRCh37	19	55085353	55085353	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1428777987	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	186	1	ENST00000251377.3:c.8C>T	p.Pro3Leu	p.P3L	ENST00000251377		3	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS46179.1	8	RADIA|MUTECT|MUSE	.	GACCCCCATCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,PIRSF_domain:PIRSF001979	.	.	ENSP00000251377	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.21)	.	tolerated(0.08)	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,missense_variant,p.Pro3Leu,ENST00000251376,;LILRA2,missense_variant,p.Pro3Leu,ENST00000391738,;LILRA2,missense_variant,p.Pro3Leu,ENST00000391737,;LILRA2,missense_variant,p.Pro3Leu,ENST00000439534,;LILRB1,missense_variant,p.Pro3Leu,ENST00000418536,;LILRB1,missense_variant,p.Pro3Leu,ENST00000448689,;LILRA2,missense_variant,p.Pro3Leu,ENST00000251377,;LILRB1,missense_variant,p.Pro3Leu,ENST00000396321,;LILRA2,intron_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;	141	187	76	SUCCESS
EMR1	0	.	GRCh37	19	6904085	6904085	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	84	0	ENST00000312053.4:c.841C>G	p.Pro281Ala	p.P281A	ENST00000312053	NM_001974.4	281	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS12175.1	841	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCCTAAT	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207,PROSITE_profiles:PS50026	.	.	ENSP00000311545	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000312053	Transcript	.	.	ENSG00000174837	3336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.422)	.	tolerated(0.14)	.	EMR1_HUMAN	EMR1	HGNC	.	.	UPI0000203241	SNV	EMR1,missense_variant,p.Pro229Ala,ENST00000381404,;EMR1,missense_variant,p.Pro140Ala,ENST00000381407,;EMR1,missense_variant,p.Pro281Ala,ENST00000250572,;EMR1,missense_variant,p.Pro281Ala,ENST00000312053,;EMR1,intron_variant,,ENST00000450315,;EMR1,intron_variant,,ENST00000595026,;EMR1,downstream_gene_variant,,ENST00000601198,;	878	84	96	SUCCESS
MUC16	94025	.	GRCh37	19	9018487	9018487	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780625713	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	9	271	0	ENST00000397910.4:c.37687C>T	p.Arg12563Cys	p.R12563C	ENST00000397910	NM_024690.2	12563	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS54212.1	37687	MUTECT|MUSE	.	AGGGCGATGCA	NONE	byFrequency	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	24/84	.	.	.	.	.	.	.	.	rs780625713	24/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.923)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Arg12563Cys,ENST00000397910,;	37891	271	156	SUCCESS
MUC16	94025	.	GRCh37	19	9038131	9038131	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	90	0	ENST00000397910.4:c.36145G>T	p.Val12049Leu	p.V12049L	ENST00000397910	NM_024690.2	12049	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS54212.1	36145	MUTECT|MUSE	.	AGTCACTGGAG	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	8/84	.	.	.	.	.	.	.	.	.	8/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.072)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Val12049Leu,ENST00000397910,;	36349	90	105	SUCCESS
CYB561D1	284613	.	GRCh37	1	110038869	110038871	+	inframe_deletion	In_Frame_Del	DEL	AAT	AAT	-	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	AAT	AAT	.	.	.	.	.	.	.	.	.	.	.	.	.	81	38	202	0	ENST00000420578.2:c.678_680del	p.Met227del	p.M227del	ENST00000420578		226	aaAATg/aag	0	.	.	.	.	.	-	KM/K	protein_coding	YES	CCDS44188.1	744-746	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGAAAATGGAAA	NONE	.	.	hmmpanther:PTHR15422,hmmpanther:PTHR15422:SF9	.	.	ENSP00000358884	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000369868	Transcript	.	.	ENSG00000174151	26804	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C56D1_HUMAN	CYB561D1	HGNC	B4E0W0_HUMAN	.	UPI00017A6DF4	deletion	CYB561D1,inframe_deletion,p.Met227del,ENST00000528785,;CYB561D1,inframe_deletion,p.Met227del,ENST00000420578,;CYB561D1,inframe_deletion,p.Met170del,ENST00000393709,;CYB561D1,inframe_deletion,p.Met249del,ENST00000369868,;CYB561D1,3_prime_UTR_variant,,ENST00000310611,;CYB561D1,3_prime_UTR_variant,,ENST00000430195,;CYB561D1,3_prime_UTR_variant,,ENST00000527072,;CYB561D1,3_prime_UTR_variant,,ENST00000533024,;CYB561D1,3_prime_UTR_variant,,ENST00000496961,;ATXN7L2,downstream_gene_variant,,ENST00000369870,;ATXN7L2,downstream_gene_variant,,ENST00000459635,;ATXN7L2,downstream_gene_variant,,ENST00000369869,;ATXN7L2,downstream_gene_variant,,ENST00000463678,;ATXN7L2,downstream_gene_variant,,ENST00000497545,;	770-772	202	119	SUCCESS
MFN2	9927	.	GRCh37	1	12069707	12069707	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	157	0	ENST00000235329.5:c.2128C>G	p.Leu710Val	p.L710V	ENST00000235329	NM_014874.3	710	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS30587.1	2128	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCTGGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF1,Gene3D:1.20.5.110,Pfam_domain:PF04799,Superfamily_domains:0053519	.	.	ENSP00000235329	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000235329	Transcript	.	.	ENSG00000116688	16877	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	MFN2_HUMAN	MFN2	HGNC	Q5JXC5_HUMAN	.	UPI0000039854	SNV	MFN2,missense_variant,p.Leu710Val,ENST00000235329,;MFN2,missense_variant,p.Leu710Val,ENST00000444836,;	2450	157	79	SUCCESS
SETDB1	9869	.	GRCh37	1	150900277	150900277	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	304	27	272	0	ENST00000271640.5:c.87G>A	p.Val29=	p.V29=	ENST00000271640	NM_001145415.1	29	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44217.1	87	MUTECT|MUSE|VARSCANS	.	GCAGTGGTTGA	NONE	.	.	PROSITE_profiles:PS51573,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884	.	.	ENSP00000271640	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000271640	Transcript	.	.	ENSG00000143379	10761	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETB1_HUMAN	SETDB1	HGNC	E9PS59_HUMAN,B0QZE6_HUMAN	.	UPI0000135897	SNV	SETDB1,synonymous_variant,p.%3D,ENST00000498193,;SETDB1,synonymous_variant,p.%3D,ENST00000448029,;SETDB1,synonymous_variant,p.%3D,ENST00000271640,;SETDB1,synonymous_variant,p.%3D,ENST00000534805,;SETDB1,synonymous_variant,p.%3D,ENST00000423081,;SETDB1,synonymous_variant,p.%3D,ENST00000525956,;SETDB1,synonymous_variant,p.%3D,ENST00000368969,;SETDB1,synonymous_variant,p.%3D,ENST00000368963,;SETDB1,synonymous_variant,p.%3D,ENST00000368962,;SETDB1,non_coding_transcript_exon_variant,,ENST00000487584,;SETDB1,non_coding_transcript_exon_variant,,ENST00000459773,;SETDB1,synonymous_variant,p.%3D,ENST00000368964,;SETDB1,non_coding_transcript_exon_variant,,ENST00000463774,;SETDB1,upstream_gene_variant,,ENST00000481219,;	277	272	332	SUCCESS
FLG	2312	.	GRCh37	1	152283189	152283189	+	synonymous_variant	Silent	SNP	A	A	G	rs762904383	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	57	190	1	ENST00000368799.1:c.4173T>C	p.Ser1391=	p.S1391=	ENST00000368799	NM_002016.1	1391	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30860.1	4173	RADIA|MUTECT|MUSE	.	CTACCACTGGA	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	4209	191	174	SUCCESS
COLGALT2	23127	.	GRCh37	1	183942845	183942845	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1307243534	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	58	0	ENST00000361927.4:c.532C>T	p.Leu178Phe	p.L178F	ENST00000361927	NM_015101.2	178	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1360.1	532	MUTECT|MUSE|VARSCANS	.	ATTGAGGGTCT	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF13704,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,missense_variant,p.Leu178Phe,ENST00000361927,;COLGALT2,missense_variant,p.Leu178Phe,ENST00000546159,;	904	58	63	SUCCESS
PLA2G2F	64600	.	GRCh37	1	20474797	20474797	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	36	293	0	ENST00000375102.3:c.539A>G	p.Tyr180Cys	p.Y180C	ENST00000375102	NM_022819.3	180	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS204.2	539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTACTGCC	NONE	.	.	hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF8,Gene3D:1.20.90.10,SMART_domains:SM00085,Superfamily_domains:SSF48619	.	.	ENSP00000364243	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375102	Transcript	.	.	ENSG00000158786	30040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.06)	.	PA2GF_HUMAN	PLA2G2F	HGNC	.	.	UPI0000044C9D	SNV	PLA2G2F,missense_variant,p.Tyr180Cys,ENST00000375102,;PLA2G2F,downstream_gene_variant,,ENST00000465062,;	641	293	110	SUCCESS
CR1	1378	.	GRCh37	1	207791472	207791472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	79	267	0	ENST00000367051.1:c.5596C>A	p.Leu1866Ile	p.L1866I	ENST00000367051		1866	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS44308.1	6946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTCTATAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	42/47	.	.	.	.	.	.	.	.	.	42/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	tolerated(0.42)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Leu1866Ile,ENST00000367051,;CR1,missense_variant,p.Leu1866Ile,ENST00000367052,;CR1,missense_variant,p.Leu2316Ile,ENST00000367049,;CR1,missense_variant,p.Leu1866Ile,ENST00000400960,;CR1,missense_variant,p.Leu489Ile,ENST00000529814,;CR1,missense_variant,p.Leu1866Ile,ENST00000367053,;	6946	267	199	SUCCESS
CR1L	1379	.	GRCh37	1	207870921	207870921	+	synonymous_variant	Silent	SNP	G	G	A	rs769450277	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	322	52	458	0	ENST00000508064.2:c.936G>A	p.Gln312=	p.Q312=	ENST00000508064	NM_175710.1	312	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS44310.1	936	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGGAAGT	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923	.	.	ENSP00000421736	.	6/12	.	.	.	.	.	.	.	.	rs769450277	6/12	PASS	ENST00000508064	Transcript	.	.	ENSG00000197721	2335	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CR1L_HUMAN	CR1L	HGNC	.	.	UPI0000DD792A	SNV	CR1L,synonymous_variant,p.%3D,ENST00000508064,;CR1L,intron_variant,,ENST00000530905,;CR1L,synonymous_variant,p.%3D,ENST00000294997,;	996	458	375	SUCCESS
IARS2	55699	.	GRCh37	1	220307815	220307816	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	100	44	118	0	ENST00000366922.1:c.1693_1694del	p.Leu565AsnfsTer12	p.L565Nfs*12	ENST00000366922		565	TTa/a	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS1523.1	1909-1910	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTTATTAACAA	NONE	.	.	HAMAP:MF_02002,hmmpanther:PTHR11946:SF9,hmmpanther:PTHR11946,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00392,Pfam_domain:PF00133,Superfamily_domains:SSF52374	.	.	ENSP00000303279	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000302637	Transcript	.	.	ENSG00000067704	29685	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYIM_HUMAN	IARS2	HGNC	F6SBX2_HUMAN	.	UPI000035B256	deletion	IARS2,frameshift_variant,p.Leu565AsnfsTer12,ENST00000366922,;IARS2,frameshift_variant,p.Leu637AsnfsTer12,ENST00000302637,;snoU13,upstream_gene_variant,,ENST00000459443,;IARS2,non_coding_transcript_exon_variant,,ENST00000490891,;IARS2,upstream_gene_variant,,ENST00000488777,;	2013-2014	118	144	SUCCESS
ZMYM4	9202	.	GRCh37	1	35857909	35857909	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	84	196	0	ENST00000314607.6:c.2684C>A	p.Ala895Asp	p.A895D	ENST00000314607	NM_005095.2	895	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS389.1	2684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGCCCCTG	NONE	.	.	hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.13)	.	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,missense_variant,p.Ala555Asp,ENST00000457946,;ZMYM4,missense_variant,p.Ala806Asp,ENST00000373297,;ZMYM4,missense_variant,p.Ala895Asp,ENST00000314607,;ZMYM4,upstream_gene_variant,,ENST00000470175,;	2764	196	199	SUCCESS
GJA9	81025	.	GRCh37	1	39340262	39340262	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	60	121	0	ENST00000357771.3:c.1509T>C	p.Asn503=	p.N503=	ENST00000357771	NM_030772.4	503	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS432.1	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGATTGTT	NONE	.	.	.	.	.	ENSP00000350415	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357771	Transcript	.	.	ENSG00000131233	19155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA9_HUMAN	GJA9	HGNC	.	.	UPI000006E09A	SNV	GJA9,synonymous_variant,p.%3D,ENST00000357771,;GJA9,synonymous_variant,p.%3D,ENST00000360786,;GJA9,intron_variant,,ENST00000454994,;MYCBP,upstream_gene_variant,,ENST00000397572,;RP5-864K19.4,intron_variant,,ENST00000443161,;RP5-864K19.4,intron_variant,,ENST00000456813,;RP5-864K19.4,intron_variant,,ENST00000433671,;MYCBP,non_coding_transcript_exon_variant,,ENST00000489803,;MYCBP,intron_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000465771,;MYCBP,upstream_gene_variant,,ENST00000462027,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000494695,;	1790	122	137	SUCCESS
PRKAA2	5563	.	GRCh37	1	57173335	57173335	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	36	133	0	ENST00000371244.4:c.1608C>A	p.Thr536=	p.T536=	ENST00000371244	NM_006252.3	536	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS605.1	1608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCATGGA	NONE	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF82,Superfamily_domains:SSF103243	.	.	ENSP00000360290	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371244	Transcript	.	.	ENSG00000162409	9377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAPK2_HUMAN	PRKAA2	HGNC	.	.	UPI00001250A9	SNV	PRKAA2,synonymous_variant,p.%3D,ENST00000371244,;	1674	134	145	SUCCESS
C1orf87	127795	.	GRCh37	1	60505838	60505838	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	40	51	0	ENST00000371201.3:c.498C>A	p.Ser166Arg	p.S166R	ENST00000371201	NM_152377.2	166	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS614.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGCTCTG	NONE	.	.	.	.	.	ENSP00000360244	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000371201	Transcript	.	.	ENSG00000162598	28547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CA087_HUMAN	C1orf87	HGNC	.	.	UPI000006E066	SNV	C1orf87,missense_variant,p.Ser166Arg,ENST00000371201,;C1orf87,intron_variant,,ENST00000450089,;	606	51	81	SUCCESS
INADL	0	.	GRCh37	1	62267337	62267337	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	40	169	0	ENST00000371158.2:c.1445C>G	p.Thr482Ser	p.T482S	ENST00000371158	NM_176877.2	482	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS617.2	1445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAACTGGAG	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964	.	.	ENSP00000360200	.	12/43	.	.	.	.	.	.	.	.	.	12/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.64)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Thr482Ser,ENST00000316485,;INADL,missense_variant,p.Thr482Ser,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;INADL,upstream_gene_variant,,ENST00000484937,;	1559	169	228	SUCCESS
CACHD1	57685	.	GRCh37	1	65139104	65139104	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	16	144	0	ENST00000290039.5:c.2531A>G	p.Asp844Gly	p.D844G	ENST00000290039	NM_020925.2	844	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS628.2	2531	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGACAGAA	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF28	.	.	ENSP00000290039	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000290039	Transcript	.	.	ENSG00000158966	29314	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.68)	.	deleterious(0.01)	.	.	CACHD1	HGNC	.	.	UPI0000458A70	SNV	CACHD1,missense_variant,p.Asp844Gly,ENST00000290039,;CACHD1,missense_variant,p.Asp895Gly,ENST00000371073,;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,;	2637	144	157	SUCCESS
RBL1	5933	.	GRCh37	20	35684006	35684006	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	50	0	ENST00000373664.3:c.1417G>A	p.Glu473Lys	p.E473K	ENST00000373664	NM_002895.3	473	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13289.1	1417	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTCTAGTA	NONE	.	.	hmmpanther:PTHR13742:SF20,hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000362768	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.167)	.	deleterious(0.01)	.	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,missense_variant,p.Glu473Lys,ENST00000373664,;RBL1,missense_variant,p.Glu473Lys,ENST00000344359,;RBL1,downstream_gene_variant,,ENST00000525052,;	1484	50	88	SUCCESS
CASS4	57091	.	GRCh37	20	55012476	55012476	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	97	0	ENST00000360314.3:c.293A>G	p.Tyr98Cys	p.Y98C	ENST00000360314	NM_001164116.1	98	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33492.1	293	RADIA|MUTECT|MUSE	.	GACCTATCAGG	NONE	.	.	hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654	.	.	ENSP00000360387	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000371336	Transcript	.	.	ENSG00000087589	15878	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.159)	.	deleterious(0.04)	.	CASS4_HUMAN	CASS4	HGNC	.	.	UPI00001285DB	SNV	CASS4,missense_variant,p.Tyr98Cys,ENST00000371336,;CASS4,missense_variant,p.Tyr98Cys,ENST00000360314,;CASS4,missense_variant,p.Tyr98Cys,ENST00000434344,;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	494	97	10	SUCCESS
MX2	4600	.	GRCh37	21	42770846	42770846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	125	0	ENST00000330714.3:c.1172G>T	p.Gly391Val	p.G391V	ENST00000330714	NM_002463.1	391	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS13672.1	1172	RADIA|MUSE|VARSCANS	.	AGAAGGACAAA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF01031,Gene3D:3.40.50.300,hmmpanther:PTHR11566:SF46,hmmpanther:PTHR11566	.	.	ENSP00000333657	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000330714	Transcript	.	.	ENSG00000183486	7533	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	deleterious(0.03)	.	MX2_HUMAN	MX2	HGNC	Q75MY8_HUMAN,Q75MY7_HUMAN,C9JZQ9_HUMAN,C9JS04_HUMAN,C9JEL4_HUMAN	.	UPI0000001C2D	SNV	MX2,missense_variant,p.Gly391Val,ENST00000330714,;MX2,3_prime_UTR_variant,,ENST00000543692,;MX2,non_coding_transcript_exon_variant,,ENST00000496774,;MX2,upstream_gene_variant,,ENST00000481838,;MX2,non_coding_transcript_exon_variant,,ENST00000493753,;MX2,non_coding_transcript_exon_variant,,ENST00000482953,;MX2,upstream_gene_variant,,ENST00000474368,;MX2,upstream_gene_variant,,ENST00000398632,;	1356	125	35	SUCCESS
C21orf128	0	.	GRCh37	21	43523905	43523905	+	synonymous_variant	Silent	SNP	G	G	T	rs749791708	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	11	286	0	ENST00000329015.2:c.328C>A	p.Arg110=	p.R110=	ENST00000329015		110	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	.	328	MUTECT|MUSE|VARSCANS	.	CCATCGGTCAC	NONE	.	.	.	.	.	ENSP00000328495	.	2/2	.	.	.	.	.	.	.	.	rs749791708	2/2	PASS	ENST00000329015	Transcript	.	.	ENSG00000184385	23821	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CU128_HUMAN	C21orf128	HGNC	.	.	UPI000006FBA4	SNV	C21orf128,synonymous_variant,p.%3D,ENST00000329015,;UMODL1,intron_variant,,ENST00000400424,;UMODL1,intron_variant,,ENST00000400427,;UMODL1,intron_variant,,ENST00000408910,;UMODL1,intron_variant,,ENST00000408989,;UMODL1,intron_variant,,ENST00000466434,;UMODL1,intron_variant,,ENST00000497243,;UMODL1,intron_variant,,ENST00000468982,;UMODL1,intron_variant,,ENST00000491559,;UMODL1,intron_variant,,ENST00000400421,;UMODL1,intron_variant,,ENST00000485357,;	480	286	124	SUCCESS
TRPM2	7226	.	GRCh37	21	45811268	45811268	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	226	0	ENST00000300482.5:c.1554C>T	p.Thr518=	p.T518=	ENST00000300482		518	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13710.1	1554	RADIA|MUTECT|MUSE|VARSCANS	.	GACACCTTGCT	NONE	.	.	hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800	.	.	ENSP00000381023	.	11/32	.	.	.	.	.	.	.	.	COSM4101941	11/32	PASS	ENST00000397928	Transcript	.	.	ENSG00000142185	12339	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,synonymous_variant,p.%3D,ENST00000300481,;TRPM2,synonymous_variant,p.%3D,ENST00000397928,;TRPM2,synonymous_variant,p.%3D,ENST00000397932,;TRPM2,synonymous_variant,p.%3D,ENST00000300482,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	1999	226	110	SUCCESS
CLTCL1	8218	.	GRCh37	22	19207465	19207465	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	142	0	ENST00000427926.1:c.2848A>T	p.Arg950Ter	p.R950*	ENST00000427926		950	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46662.1	2848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTGCATA	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF00637,SMART_domains:SM00299,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371	.	.	ENSP00000445677	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000263200	Transcript	.	.	ENSG00000070371	2093	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,stop_gained,p.Arg950Ter,ENST00000427926,;CLTCL1,stop_gained,p.Arg950Ter,ENST00000263200,;CLTCL1,stop_gained,p.Arg950Ter,ENST00000353891,;CLTCL1,stop_gained,p.Arg950Ter,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,downstream_gene_variant,,ENST00000458188,;	2921	142	100	SUCCESS
C22orf29	0	.	GRCh37	22	19839038	19839038	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	75	0	ENST00000405640.1:c.747A>G	p.Val249=	p.V249=	ENST00000405640		249	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS13769.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CTAGATACAGA	NONE	.	.	.	.	.	ENSP00000384924	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000405640	Transcript	.	.	ENSG00000215012	26112	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BOP_HUMAN	C22orf29	HGNC	C9J0V4_HUMAN	.	UPI0000207B8F	SNV	C22orf29,synonymous_variant,p.%3D,ENST00000407472,;C22orf29,synonymous_variant,p.%3D,ENST00000328554,;C22orf29,synonymous_variant,p.%3D,ENST00000405640,;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000329517,;C22orf29,downstream_gene_variant,,ENST00000416337,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;C22orf29,intron_variant,,ENST00000484072,;	1416	75	15	SUCCESS
BMS1P20	96610	.	GRCh37	22	22664185	22664185	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	9	365	1	ENST00000426066.1:n.708A>C		p.*236*	ENST00000426066				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TCAAGAAAGCA	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000426066	Transcript	.	.	ENSG00000236850	49153	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BMS1P20	HGNC	.	.	.	SNV	BMS1P20,non_coding_transcript_exon_variant,,ENST00000426066,;LL22NC03-80A10.6,non_coding_transcript_exon_variant,,ENST00000413293,;	708	366	217	SUCCESS
CACNA1I	8911	.	GRCh37	22	40030630	40030630	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	192	0	ENST00000402142.3:c.641T>A	p.Leu214Gln	p.L214Q	ENST00000402142	NM_021096.3	214	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46710.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTGCTCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000385019	.	5/37	.	.	.	.	.	.	.	.	.	5/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,missense_variant,p.Leu214Gln,ENST00000401624,;CACNA1I,missense_variant,p.Leu214Gln,ENST00000407673,;CACNA1I,missense_variant,p.Leu214Gln,ENST00000402142,;CACNA1I,missense_variant,p.Leu214Gln,ENST00000400164,;CACNA1I,missense_variant,p.Leu214Gln,ENST00000336649,;CACNA1I,missense_variant,p.Leu214Gln,ENST00000404898,;	641	192	112	SUCCESS
LRP1B	53353	.	GRCh37	2	141055500	141055500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	20	297	0	ENST00000389484.3:c.12844C>A	p.Pro4282Thr	p.P4282T	ENST00000389484	NM_018557.2	4282	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2182.1	12844	MUTECT|MUSE|VARSCANS	.	GTTTGGCCCAG	NONE	.	.	PROSITE_profiles:PS50026,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000374135	.	84/91	.	.	.	.	.	.	.	.	.	84/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.876)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Pro4282Thr,ENST00000389484,;LRP1B,missense_variant,p.Pro14Thr,ENST00000442974,;LRP1B,missense_variant,p.Pro514Thr,ENST00000437977,;	13816	297	224	SUCCESS
LYPD6	130574	.	GRCh37	2	150294299	150294299	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1483933287	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	30	114	1	ENST00000334166.4:c.77G>A	p.Arg26Gln	p.R26Q	ENST00000334166	NM_194317.3	26	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS2188.1	77	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGAGACT	NONE	.	.	hmmpanther:PTHR31171:SF0,hmmpanther:PTHR31171	.	.	ENSP00000334463	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000334166	Transcript	.	.	ENSG00000187123	28751	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.742)	.	deleterious(0.02)	.	LYPD6_HUMAN	LYPD6	HGNC	C9IYE7_HUMAN	.	UPI000000DB99	SNV	LYPD6,missense_variant,p.Arg26Gln,ENST00000414420,;LYPD6,missense_variant,p.Arg26Gln,ENST00000409381,;LYPD6,missense_variant,p.Arg26Gln,ENST00000334166,;LYPD6,missense_variant,p.Arg26Gln,ENST00000392854,;LYPD6,missense_variant,p.Arg26Gln,ENST00000418762,;AC007394.3,upstream_gene_variant,,ENST00000421941,;	334	115	48	SUCCESS
TBR1	10716	.	GRCh37	2	162276744	162276744	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	62	113	0	ENST00000389554.3:c.1166A>T	p.Lys389Ile	p.K389I	ENST00000389554	NM_006593.2	389	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS33310.1	1166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAAAGGAT	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937	.	.	ENSP00000374205	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000389554	Transcript	.	.	ENSG00000136535	11590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	TBR1_HUMAN	TBR1	HGNC	Q56A81_HUMAN,B0AZS4_HUMAN	.	UPI0000136A99	SNV	TBR1,missense_variant,p.Lys389Ile,ENST00000389554,;TBR1,missense_variant,p.Lys124Ile,ENST00000411412,;TBR1,missense_variant,p.Lys102Ile,ENST00000410035,;AC009487.5,upstream_gene_variant,,ENST00000505579,;AC009487.4,downstream_gene_variant,,ENST00000437683,;AC009487.4,downstream_gene_variant,,ENST00000444164,;TBR1,non_coding_transcript_exon_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;	1483	113	113	SUCCESS
SLC4A10	57282	.	GRCh37	2	162807235	162807235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	28	145	0	ENST00000446997.1:c.2418A>T	p.Leu806Phe	p.L806F	ENST00000446997	NM_001178015.1	806	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS54411.1	2418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTAGGTCC	NONE	.	.	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	.	.	ENSP00000393066	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.85)	.	tolerated(1)	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,missense_variant,p.Leu806Phe,ENST00000446997,;SLC4A10,missense_variant,p.Leu806Phe,ENST00000421911,;SLC4A10,missense_variant,p.Leu776Phe,ENST00000272716,;SLC4A10,missense_variant,p.Leu787Phe,ENST00000375514,;SLC4A10,missense_variant,p.Leu776Phe,ENST00000415876,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	2511	145	147	SUCCESS
XIRP2	129446	.	GRCh37	2	168105466	168105466	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	45	86	0	ENST00000409195.1:c.7564C>A	p.His2522Asn	p.H2522N	ENST00000409195	NM_152381.5	2522	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS42769.1	7564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCATTCA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	COSM461311	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.081)	.	.	1	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.His2300Asn,ENST00000409273,;XIRP2,missense_variant,p.His2522Asn,ENST00000409195,;XIRP2,missense_variant,p.His2522Asn,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	7653	86	84	SUCCESS
MYO3B	140469	.	GRCh37	2	171262094	171262094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	78	0	ENST00000408978.4:c.2471G>A	p.Arg824Lys	p.R824K	ENST00000408978	NM_138995.4	824	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS42773.1	2471	MUTECT|MUSE	.	CTGGAGGCCCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.06)	.	tolerated(0.14)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Arg833Lys,ENST00000484338,;MYO3B,missense_variant,p.Arg824Lys,ENST00000408978,;MYO3B,missense_variant,p.Arg833Lys,ENST00000334231,;MYO3B,missense_variant,p.Arg824Lys,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,missense_variant,p.Arg824Lys,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	2614	78	72	SUCCESS
TTN	7273	.	GRCh37	2	179404631	179404631	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs533651182	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	52	160	0	ENST00000591111.1:c.93238G>A	p.Val31080Ile	p.V31080I	ENST00000591111		31080	Gtc/Atc	0	.	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS59435.1	98161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	GATGACGCCAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	T:0.001	.	ENSP00000467141	T:0	352/363	.	.	.	.	.	.	.	.	rs533651182,COSM1129492,COSM1129491,COSM1129490,COSM1129488	352/363	PASS	ENST00000589042	Transcript	.	T:0.0002	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	T:0	.	0,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val23781Ile,ENST00000359218,;TTN,missense_variant,p.Val23656Ile,ENST00000460472,;TTN,missense_variant,p.Val31080Ile,ENST00000591111,;TTN,missense_variant,p.Val32721Ile,ENST00000589042,;TTN,missense_variant,p.Val23848Ile,ENST00000342175,;TTN,missense_variant,p.Val30153Ile,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000589391,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000592182,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000591466,;TTN-AS1,downstream_gene_variant,,ENST00000591867,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000585358,;TTN-AS1,downstream_gene_variant,,ENST00000589842,;TTN-AS1,downstream_gene_variant,,ENST00000450692,;TTN-AS1,downstream_gene_variant,,ENST00000442329,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000588257,;TTN-AS1,downstream_gene_variant,,ENST00000588244,;TTN-AS1,downstream_gene_variant,,ENST00000588804,;TTN-AS1,upstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000585487,;	98386	160	119	SUCCESS
TTN	7273	.	GRCh37	2	179596523	179596523	+	synonymous_variant	Silent	SNP	G	G	A	rs372588069	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	121	0	ENST00000591111.1:c.16128C>T	p.Ser5376=	p.S5376=	ENST00000591111		5376	agC/agT	0	C:0	.	.	.	.	A	S	protein_coding	YES	CCDS59435.1	17079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGCTAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	C:0.0001	ENSP00000467141	.	58/363	.	.	.	.	.	.	.	.	rs372588069	58/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	17304	121	103	SUCCESS
CCDC141	285025	.	GRCh37	2	179718305	179718305	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	45	0	ENST00000420890.2:c.3107G>A	p.Gly1036Glu	p.G1036E	ENST00000420890	NM_173648.3	1036	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	.	3107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCCAACT	NONE	.	.	hmmpanther:PTHR19897	.	.	ENSP00000395995	.	20/24	.	.	.	.	.	.	.	.	COSM1691639,COSM1691640	20/24	PASS	ENST00000420890	Transcript	.	.	ENSG00000163492	26821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.954)	.	deleterious(0)	1,1	.	CCDC141	HGNC	H7C0P1_HUMAN,E7ERF0_HUMAN	.	UPI0000EE2F1C	SNV	CCDC141,missense_variant,p.Gly1036Glu,ENST00000420890,;CCDC141,missense_variant,p.Gly480Glu,ENST00000343876,;CCDC141,missense_variant,p.Gly461Glu,ENST00000295723,;CCDC141,downstream_gene_variant,,ENST00000443758,;	3225	45	52	SUCCESS
SGOL2	0	.	GRCh37	2	201437093	201437093	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	14	156	1	ENST00000357799.4:c.2024G>A	p.Arg675Lys	p.R675K	ENST00000357799	NM_152524.5	675	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS42796.1	2024	RADIA|MUTECT|MUSE|VARSCANS	.	TACTAGAGATA	NONE	.	.	hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577	.	.	ENSP00000350447	.	7/9	.	.	.	.	.	.	.	.	COSM442092	7/9	PASS	ENST00000357799	Transcript	.	.	ENSG00000163535	30812	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.003)	.	tolerated(0.96)	1	SGOL2_HUMAN	SGOL2	HGNC	C9JW92_HUMAN	.	UPI00001AEBF5	SNV	SGOL2,missense_variant,p.Arg675Lys,ENST00000357799,;SGOL2,downstream_gene_variant,,ENST00000409203,;	2122	157	151	SUCCESS
DYTN	391475	.	GRCh37	2	207527925	207527925	+	synonymous_variant	Silent	SNP	A	A	G	rs769051080	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	41	213	0	ENST00000452335.2:c.1335T>C	p.Asn445=	p.N445=	ENST00000452335	NM_001093730.1	445	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS46502.1	1335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCATTTGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	.	.	ENSP00000396593	.	11/12	.	.	.	.	.	.	.	.	rs769051080	11/12	PASS	ENST00000452335	Transcript	.	.	ENSG00000232125	23279	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYTN_HUMAN	DYTN	HGNC	.	.	UPI0000EE0AB9	SNV	DYTN,synonymous_variant,p.%3D,ENST00000452335,;	1452	213	158	SUCCESS
SPAG16	79582	.	GRCh37	2	214727353	214727353	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	137	0	ENST00000331683.5:c.1214+1G>T		p.X405_splice	ENST00000331683	NM_024532.4	405		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2396.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGTCAGT	NONE	.	.	.	.	.	ENSP00000332592	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331683	Transcript	.	.	ENSG00000144451	23225	.	.	HIGH	11/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPG16_HUMAN	SPAG16	HGNC	Q53TL7_HUMAN,Q53TF1_HUMAN,Q53SC3_HUMAN,Q53RV6_HUMAN,Q53RF0_HUMAN,Q53R35_HUMAN,Q53QP6_HUMAN	.	UPI00001AFF12	SNV	SPAG16,splice_donor_variant,,ENST00000374309,;SPAG16,splice_donor_variant,,ENST00000451561,;SPAG16,splice_donor_variant,,ENST00000331683,;SPAG16,splice_donor_variant,,ENST00000452556,;SPAG16,splice_donor_variant,,ENST00000406979,;	.	137	79	SUCCESS
EPT1	0	.	GRCh37	2	26597995	26597995	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	95	0	ENST00000260585.7:c.661C>T	p.Leu221=	p.L221=	ENST00000260585	NM_033505.2	221	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46240.1	661	MUTECT|MUSE	.	GAGACCTATTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF33,PIRSF_domain:PIRSF015665	.	.	ENSP00000260585	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000260585	Transcript	.	.	ENSG00000138018	29361	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPT1_HUMAN	EPT1	HGNC	G1UI38_HUMAN,C9JEZ2_HUMAN,C9J9I1_HUMAN	.	UPI00003CE422	SNV	EPT1,synonymous_variant,p.%3D,ENST00000260585,;EPT1,intron_variant,,ENST00000447170,;EPT1,downstream_gene_variant,,ENST00000442141,;	780	95	81	SUCCESS
PRADC1	84279	.	GRCh37	2	73456048	73456048	+	synonymous_variant	Silent	SNP	G	G	A	rs748507079	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	112	0	ENST00000258083.2:c.321C>T	p.His107=	p.H107=	ENST00000258083	NM_032319.1	107	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS1924.1	321	RADIA|MUTECT|MUSE	.	CCGCCGTGCTC	NONE	byFrequency	.	Superfamily_domains:SSF52025,Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22702	.	.	ENSP00000258083	.	4/5	.	.	.	.	.	.	.	.	rs748507079	4/5	PASS	ENST00000258083	Transcript	.	.	ENSG00000135617	16047	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PADC1_HUMAN	PRADC1	HGNC	.	.	UPI0000039EBE	SNV	PRADC1,synonymous_variant,p.%3D,ENST00000258083,;SMYD5,downstream_gene_variant,,ENST00000389501,;PRADC1,intron_variant,,ENST00000480093,;CCT7,upstream_gene_variant,,ENST00000473197,;SMYD5,downstream_gene_variant,,ENST00000486518,;CCT7,upstream_gene_variant,,ENST00000471927,;CCT7,upstream_gene_variant,,ENST00000469844,;CCT7,upstream_gene_variant,,ENST00000492253,;PRADC1,downstream_gene_variant,,ENST00000470391,;	389	112	23	SUCCESS
LSAMP	4045	.	GRCh37	3	115805264	115805264	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1184465262	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	99	291	0	ENST00000490035.2:c.295C>G	p.Gln99Glu	p.Q99E	ENST00000490035	NM_002338.3	99	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS2982.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGGATTC	BUFFER|p.R97Q|c.290G>A|4	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF10,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000419000	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000490035	Transcript	.	.	ENSG00000185565	6705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.45)	.	tolerated(0.09)	.	LSAMP_HUMAN	LSAMP	HGNC	.	.	UPI00000746A0	SNV	LSAMP,missense_variant,p.Gln96Glu,ENST00000539563,;LSAMP,missense_variant,p.Gln99Glu,ENST00000490035,;LSAMP,missense_variant,p.Gln133Glu,ENST00000474851,;LSAMP,missense_variant,p.Gln83Glu,ENST00000333617,;	795	291	252	SUCCESS
ADPRH	141	.	GRCh37	3	119306692	119306692	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	48	0	ENST00000357003.3:c.1041C>A	p.Leu347=	p.L347=	ENST00000357003	NM_001125.2	347	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2990.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCGGGTC	NONE	.	.	hmmpanther:PTHR22957:SF223,hmmpanther:PTHR22957,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888	.	.	ENSP00000420200	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000478399	Transcript	.	.	ENSG00000144843	269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADPRH_HUMAN	ADPRH	HGNC	C9JZW7_HUMAN	.	UPI0000125ED7	SNV	ADPRH,synonymous_variant,p.%3D,ENST00000478399,;ADPRH,synonymous_variant,p.%3D,ENST00000465513,;ADPRH,synonymous_variant,p.%3D,ENST00000357003,;ADPRH,synonymous_variant,p.%3D,ENST00000478927,;ADPRH,downstream_gene_variant,,ENST00000481816,;ADPRH,non_coding_transcript_exon_variant,,ENST00000471850,;ADPRH,downstream_gene_variant,,ENST00000485496,;	2446	48	57	SUCCESS
ACPP	0	.	GRCh37	3	132075565	132075565	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148218296	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	136	1	ENST00000351273.7:c.1004C>T	p.Thr335Met	p.T335M	ENST00000351273	NM_001134194.1	335	aCg/aTg	0	T:0	T:0	.	T:0	.	T	T/M	protein_coding	YES	CCDS46916.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGACGCAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254	T:0.001	T:0.0007	ENSP00000323036	T:0	10/11	.	.	.	.	.	.	.	.	rs148218296,COSM1736064,COSM1736063	10/11	common_in_exac	ENST00000351273	Transcript	.	T:0.0002	ENSG00000014257	125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.948)	T:0	deleterious(0)	0,1,1	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,missense_variant,p.Thr20Met,ENST00000507647,;ACPP,missense_variant,p.Thr335Met,ENST00000351273,;ACPP,missense_variant,p.Thr302Met,ENST00000475741,;ACPP,missense_variant,p.Thr335Met,ENST00000336375,;ACPP,downstream_gene_variant,,ENST00000512463,;	1054	137	85	SUCCESS
AADACL2	344752	.	GRCh37	3	151475327	151475327	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373909154	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	15	124	0	ENST00000356517.3:c.1151G>A	p.Arg384His	p.R384H	ENST00000356517	NM_207365.3	384	cGt/cAt	0	A:0	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS3161.2	1151	RADIA|MUTECT|MUSE|VARSCANS	.	TTTACGTCTAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF104,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	A:0	A:0.0001	ENSP00000348911	A:0	5/5	.	.	.	.	.	.	.	.	rs373909154	5/5	PASS	ENST00000356517	Transcript	.	A:0.0002	ENSG00000197953	24427	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	A:0	tolerated(0.33)	.	ADCL2_HUMAN	AADACL2	HGNC	.	.	UPI000015F144	SNV	AADACL2,missense_variant,p.Arg384His,ENST00000356517,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;AADACL2,3_prime_UTR_variant,,ENST00000445270,;RP11-64D22.1,downstream_gene_variant,,ENST00000489539,;	1260	124	134	SUCCESS
ACTRT3	84517	.	GRCh37	3	169485800	169485800	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	7	267	0	ENST00000330368.2:c.539C>G	p.Ala180Gly	p.A180G	ENST00000330368	NM_032487.4	180	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS3206.1	539	MUTECT|MUSE	.	GGCCTGCCAGA	NONE	.	.	hmmpanther:PTHR11937:SF159,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000333037	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330368	Transcript	.	.	ENSG00000184378	24022	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	deleterious(0.03)	.	ACTT3_HUMAN	ACTRT3	HGNC	.	.	UPI000004EE04	SNV	ACTRT3,missense_variant,p.Ala180Gly,ENST00000330368,;MYNN,upstream_gene_variant,,ENST00000349841,;TERC,upstream_gene_variant,,ENST00000602385,;RP11-816J6.3,upstream_gene_variant,,ENST00000602879,;TERC,upstream_gene_variant,,ENST00000363312,;	914	267	170	SUCCESS
GHSR	2693	.	GRCh37	3	172162985	172162985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	29	81	0	ENST00000241256.2:c.1067C>A	p.Ser356Tyr	p.S356Y	ENST00000241256	NM_198407.2	356	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS3218.1	1067	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAGAACTT	NONE	.	.	Prints_domain:PR01417,Gene3D:1.20.1070.10,hmmpanther:PTHR24243:SF7,hmmpanther:PTHR24243	.	.	ENSP00000241256	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000241256	Transcript	.	.	ENSG00000121853	4267	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.405)	.	tolerated(0.1)	.	GHSR_HUMAN	GHSR	HGNC	A2T3X1_HUMAN	.	UPI000003C2FA	SNV	GHSR,missense_variant,p.Ser356Tyr,ENST00000241256,;GHSR,downstream_gene_variant,,ENST00000427970,;	1110	81	181	SUCCESS
DNAJC19	131118	.	GRCh37	3	180706002	180706002	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	22	217	0	ENST00000382564.2:c.19G>T	p.Ala7Ser	p.A7S	ENST00000382564	NM_145261.3	7	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33895.1	19	RADIA|MUTECT|MUSE|VARSCANS	.	AACTGCTACCA	NONE	.	.	hmmpanther:PTHR12763,hmmpanther:PTHR12763:SF8,Transmembrane_helices:TMhelix	.	.	ENSP00000372005	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000382564	Transcript	.	.	ENSG00000205981	30528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.516)	.	tolerated(0.06)	.	TIM14_HUMAN	DNAJC19	HGNC	.	.	UPI000006CD5D	SNV	DNAJC19,missense_variant,p.Ala7Ser,ENST00000486355,;DNAJC19,missense_variant,p.Ala7Ser,ENST00000382564,;DNAJC19,5_prime_UTR_variant,,ENST00000479269,;DNAJC19,intron_variant,,ENST00000491873,;SOX2-OT,upstream_gene_variant,,ENST00000487240,;SOX2-OT,upstream_gene_variant,,ENST00000461063,;DNAJC19,missense_variant,p.Ala7Ser,ENST00000469657,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000478723,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000472504,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000482363,;DNAJC19,intron_variant,,ENST00000485675,;	190	217	197	SUCCESS
TTC21A	199223	.	GRCh37	3	39156203	39156203	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1575502596	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	4	138	0	ENST00000431162.2:c.686A>G	p.Asp229Gly	p.D229G	ENST00000431162		229	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS46800.1	686	MUTECT|MUSE	.	GCAGGACTGGG	NONE	.	.	hmmpanther:PTHR14699:SF2,hmmpanther:PTHR14699,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000398211	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000431162	Transcript	.	.	ENSG00000168026	30761	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.899)	.	deleterious(0)	.	TT21A_HUMAN	TTC21A	HGNC	.	.	UPI00015D46B9	SNV	TTC21A,missense_variant,p.Asp188Gly,ENST00000440121,;TTC21A,missense_variant,p.Asp229Gly,ENST00000301819,;TTC21A,missense_variant,p.Asp229Gly,ENST00000431162,;TTC21A,missense_variant,p.Asp229Gly,ENST00000430597,;TTC21A,synonymous_variant,p.%3D,ENST00000431559,;TTC21A,non_coding_transcript_exon_variant,,ENST00000493337,;TTC21A,non_coding_transcript_exon_variant,,ENST00000479954,;TTC21A,non_coding_transcript_exon_variant,,ENST00000459702,;TTC21A,downstream_gene_variant,,ENST00000490036,;TTC21A,downstream_gene_variant,,ENST00000425163,;	820	138	94	SUCCESS
DOCK3	1795	.	GRCh37	3	51273797	51273797	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	5	125	0	ENST00000266037.9:c.1939A>G	p.Thr647Ala	p.T647A	ENST00000266037	NM_004947.4	647	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46835.1	1939	MUTECT|MUSE	.	TAGATACACTC	NONE	.	.	hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000266037	.	20/53	.	.	.	.	.	.	.	.	.	20/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	tolerated(0.6)	.	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,missense_variant,p.Thr647Ala,ENST00000266037,;	1962	125	151	SUCCESS
ERC2	26059	.	GRCh37	3	56183107	56183107	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	54	158	0	ENST00000288221.6:c.1203C>T	p.Ile401=	p.I401=	ENST00000288221	NM_015576.1	401	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS46851.1	1203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGATCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Pfam_domain:PF10174,Superfamily_domains:SSF57997	.	.	ENSP00000288221	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,synonymous_variant,p.%3D,ENST00000492584,;ERC2,synonymous_variant,p.%3D,ENST00000288221,;ERC2,synonymous_variant,p.%3D,ENST00000460849,;ERC2,non_coding_transcript_exon_variant,,ENST00000484857,;	1459	158	154	SUCCESS
PDZRN3	23024	.	GRCh37	3	73651611	73651611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	119	1	ENST00000263666.4:c.812A>G	p.Asp271Gly	p.D271G	ENST00000263666	NM_015009.1	271	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33789.1	812	MUTECT|MUSE|VARSCANS	.	GGTTATCCTTT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000263666	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.626)	.	tolerated(0.2)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Asp271Gly,ENST00000263666,;PDZRN3,missense_variant,p.Asp271Gly,ENST00000308537,;	927	120	116	SUCCESS
MTMR14	64419	.	GRCh37	3	9712791	9712791	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	51	144	0	ENST00000296003.4:c.614del	p.Tyr205SerfsTer10	p.Y205Sfs*10	ENST00000296003	NM_001077525.2	205	tAc/tc	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS43043.1	614	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCGATACCTGT	NONE	.	.	hmmpanther:PTHR13524,Superfamily_domains:SSF52799	.	.	ENSP00000296003	.	6/19	.	.	.	.	.	.	.	.	COSM1159391	6/19	PASS	ENST00000296003	Transcript	.	.	ENSG00000163719	26190	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	MTMRE_HUMAN	MTMR14	HGNC	.	.	UPI000007423D	deletion	MTMR14,frameshift_variant,p.Tyr205SerfsTer10,ENST00000351233,;MTMR14,frameshift_variant,p.Tyr205SerfsTer10,ENST00000353332,;MTMR14,frameshift_variant,p.Tyr205SerfsTer10,ENST00000296003,;MTMR14,intron_variant,,ENST00000420925,;MTMR14,upstream_gene_variant,,ENST00000431250,;MTMR14,frameshift_variant,p.Thr52ProfsTer8,ENST00000414996,;MTMR14,frameshift_variant,p.Thr180ProfsTer8,ENST00000430020,;MTMR14,frameshift_variant,p.Tyr123SerfsTer10,ENST00000447144,;MTMR14,frameshift_variant,p.Thr150ProfsTer8,ENST00000416864,;MTMR14,3_prime_UTR_variant,,ENST00000449543,;MTMR14,downstream_gene_variant,,ENST00000437997,;	736	144	190	SUCCESS
CENPE	1062	.	GRCh37	4	104065713	104065713	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	37	0	ENST00000265148.3:c.4920G>A	p.Gln1640=	p.Q1640=	ENST00000265148	NM_001813.2	1640	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS34042.1	4920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCTGAGT	NONE	.	.	hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	33/49	.	.	.	.	.	.	.	.	.	33/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,synonymous_variant,p.%3D,ENST00000380026,;CENPE,synonymous_variant,p.%3D,ENST00000265148,;CENPE,downstream_gene_variant,,ENST00000515478,;	5010	37	34	SUCCESS
NDST4	64579	.	GRCh37	4	115754838	115754838	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775356733	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	167	0	ENST00000264363.2:c.2320G>C	p.Asp774His	p.D774H	ENST00000264363	NM_022569.1	774	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS3706.1	2320	MUTECT|MUSE	.	TGGGTCAGATC	NONE	byFrequency	.	Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	.	.	ENSP00000264363	.	12/14	.	.	.	.	.	.	.	.	rs775356733,COSM1739048	12/14	PASS	ENST00000264363	Transcript	.	.	ENSG00000138653	20779	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.891)	.	deleterious(0.01)	0,1	NDST4_HUMAN	NDST4	HGNC	.	.	UPI000006CED7	SNV	NDST4,missense_variant,p.Asp774His,ENST00000264363,;NDST4,3_prime_UTR_variant,,ENST00000504854,;	2999	167	98	SUCCESS
HHIP	64399	.	GRCh37	4	145567924	145567924	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199961348	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	177	0	ENST00000296575.3:c.97G>A	p.Gly33Arg	p.G33R	ENST00000296575	NM_022475.2	33	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS3762.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGGAGCA	NONE	.	.	hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27	.	.	ENSP00000296575	.	1/13	.	.	.	.	.	.	.	.	rs199961348,COSM1427333	1/13	PASS	ENST00000296575	Transcript	1	.	ENSG00000164161	14866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.362)	.	deleterious_low_confidence(0)	0,1	HHIP_HUMAN	HHIP	HGNC	.	.	UPI0000071302	SNV	HHIP,missense_variant,p.Gly33Arg,ENST00000434550,;HHIP,missense_variant,p.Gly33Arg,ENST00000296575,;HHIP-AS1,intron_variant,,ENST00000512359,;HHIP-AS1,upstream_gene_variant,,ENST00000503066,;HHIP-AS1,upstream_gene_variant,,ENST00000508269,;HHIP,upstream_gene_variant,,ENST00000505891,;HHIP,upstream_gene_variant,,ENST00000511314,;HHIP,upstream_gene_variant,,ENST00000515080,;	752	177	38	SUCCESS
FAM160A1	0	.	GRCh37	4	152498952	152498952	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	34	219	0	ENST00000435205.1:c.456A>T	p.Gly152=	p.G152=	ENST00000435205	NM_001109977.1	152	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS47146.1	456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAACAAC	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705,Pfam_domain:PF10257	.	.	ENSP00000413196	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,synonymous_variant,p.%3D,ENST00000435205,;FAM160A1,synonymous_variant,p.%3D,ENST00000505231,;FAM160A1,downstream_gene_variant,,ENST00000503146,;FAM160A1,downstream_gene_variant,,ENST00000512597,;FAM160A1,downstream_gene_variant,,ENST00000513962,;RN7SKP35,downstream_gene_variant,,ENST00000517210,;	1031	219	128	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160262813	160262813	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	39	225	0	ENST00000264431.4:c.2149A>T	p.Ser717Cys	p.S717C	ENST00000264431	NM_014247.2	717	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS43277.1	2149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCAGCACT	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000264431	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	SNV	RAPGEF2,missense_variant,p.Ser717Cys,ENST00000264431,;RAPGEF2,upstream_gene_variant,,ENST00000502485,;RAPGEF2,upstream_gene_variant,,ENST00000510253,;	2568	225	153	SUCCESS
TENM3	55714	.	GRCh37	4	183650121	183650121	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1330042105	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	149	0	ENST00000511685.1:c.2372G>A	p.Gly791Glu	p.G791E	ENST00000511685		791	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS47165.1	2372	MUTECT|MUSE	.	AGATGGACTCA	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Gly791Glu,ENST00000511685,;TENM3,missense_variant,p.Gly791Glu,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	2495	149	96	SUCCESS
KLB	152831	.	GRCh37	4	39439384	39439384	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	9	137	0	ENST00000257408.4:c.1374T>C	p.Thr458=	p.T458=	ENST00000257408	NM_175737.3	458	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3451.1	1374	MUTECT|MUSE	.	TATACTGCCTG	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445,Prints_domain:PR00131	.	.	ENSP00000257408	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,synonymous_variant,p.%3D,ENST00000257408,;Y_RNA,upstream_gene_variant,,ENST00000459360,;	1471	137	113	SUCCESS
FIP1L1	81608	.	GRCh37	4	54256750	54256750	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	51	0	ENST00000337488.6:c.460G>C	p.Glu154Gln	p.E154Q	ENST00000337488	NM_030917.3	154	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS3491.1	460	RADIA|MUTECT|MUSE	.	TCTTAGAGGTA	NONE	.	.	hmmpanther:PTHR13484,Pfam_domain:PF05182	.	.	ENSP00000336752	.	7/18	.	.	.	.	.	.	.	.	COSM3946429,COSM3946430	7/18	PASS	ENST00000337488	Transcript	1	.	ENSG00000145216	19124	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.961)	.	tolerated(0.06)	1,1	FIP1_HUMAN	FIP1L1	HGNC	.	.	UPI0000035FBF	SNV	FIP1L1,missense_variant,p.Glu139Gln,ENST00000358575,;FIP1L1,missense_variant,p.Glu154Gln,ENST00000337488,;FIP1L1,missense_variant,p.Glu139Gln,ENST00000507922,;FIP1L1,missense_variant,p.Glu154Gln,ENST00000507166,;FIP1L1,missense_variant,p.Glu139Gln,ENST00000306932,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000511376,;FIP1L1,downstream_gene_variant,,ENST00000510668,;FIP1L1,3_prime_UTR_variant,,ENST00000514543,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513975,;	654	51	53	SUCCESS
SRP72	6731	.	GRCh37	4	57344756	57344756	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	81	327	1	ENST00000342756.5:c.768-2A>G		p.X256_splice	ENST00000342756	NM_006947.3	256		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGACCA	NONE	.	.	.	.	.	ENSP00000342181	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342756	Transcript	1	.	ENSG00000174780	11303	.	.	HIGH	7/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRP72_HUMAN	SRP72	HGNC	Q86X80_HUMAN	.	UPI000013EEB0	SNV	SRP72,splice_acceptor_variant,,ENST00000505314,;SRP72,splice_acceptor_variant,,ENST00000342756,;SRP72,intron_variant,,ENST00000510663,;SRP72,downstream_gene_variant,,ENST00000504757,;	.	328	197	SUCCESS
UBA6	55236	.	GRCh37	4	68497490	68497490	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	40	106	0	ENST00000322244.5:c.2195-1G>T		p.X732_splice	ENST00000322244	NM_018227.5	732		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3516.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACCTGGCA	NONE	.	.	.	.	.	ENSP00000313454	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322244	Transcript	.	.	ENSG00000033178	25581	.	.	HIGH	24/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBA6_HUMAN	UBA6	HGNC	B3KSS1_HUMAN	.	UPI000004A4F7	SNV	UBA6,splice_acceptor_variant,,ENST00000505673,;UBA6,splice_acceptor_variant,,ENST00000322244,;	.	107	121	SUCCESS
TERT	7015	.	GRCh37	5	1278821	1278821	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150819225	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	295	0	ENST00000310581.5:c.2221G>T	p.Val741Leu	p.V741L	ENST00000310581	NM_198253.2	741	Gtg/Ttg	0	T:0.0002	.	.	.	.	A	V/L	protein_coding	YES	CCDS3861.2	2221	RADIA|MUTECT|MUSE|VARSCANS	.	ACGCACGCAGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50878,hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066,Pfam_domain:PF00078	.	T:0.0001	ENSP00000309572	.	6/16	.	.	.	.	.	.	.	.	rs150819225	6/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.1)	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,missense_variant,p.Val741Leu,ENST00000296820,;TERT,missense_variant,p.Val741Leu,ENST00000310581,;TERT,missense_variant,p.Val741Leu,ENST00000508104,;TERT,missense_variant,p.Val741Leu,ENST00000334602,;TERT,missense_variant,p.Val729Leu,ENST00000460137,;TERT,non_coding_transcript_exon_variant,,ENST00000484238,;	2279	295	30	SUCCESS
DNAH5	1767	.	GRCh37	5	13871081	13871081	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	89	279	0	ENST00000265104.4:c.3629C>T	p.Thr1210Ile	p.T1210I	ENST00000265104	NM_001369.2	1210	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3882.1	3629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGTCTCA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	24/79	.	.	.	.	.	.	.	.	.	24/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Thr1210Ile,ENST00000265104,;CTB-51A17.1,intron_variant,,ENST00000503244,;	3734	279	208	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159776297	159776297	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148128798	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	143	0	ENST00000393975.3:c.871G>A	p.Glu291Lys	p.E291K	ENST00000393975	NM_031908.4	291	Gaa/Aaa	0	T:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS4351.2	871	MUTECT|MUSE|VARSCANS	.	AACTTCGTCAC	SITE|p.E291K|c.871G>A|3	byCluster	.	Prints_domain:PR00007,Superfamily_domains:SSF49842,SMART_domains:SM00110,Pfam_domain:PF00386,Gene3D:2.60.120.40,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF8,PROSITE_profiles:PS50871	.	T:0.0001	ENSP00000377545	.	3/3	.	.	.	.	.	.	.	.	rs148128798,COSM136511	3/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.912)	.	tolerated(0.18)	0,1	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,missense_variant,p.Glu291Lys,ENST00000393975,;CCNJL,upstream_gene_variant,,ENST00000521643,;	875	143	46	SUCCESS
CDH9	1007	.	GRCh37	5	26902658	26902658	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	41	63	0	ENST00000231021.4:c.1180G>T	p.Glu394Ter	p.E394*	ENST00000231021	NM_016279.3	394	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3893.1	1180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCATCTA	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,stop_gained,p.Glu394Ter,ENST00000231021,;CDH9,downstream_gene_variant,,ENST00000505045,;	1353	63	75	SUCCESS
EMB	133418	.	GRCh37	5	49699137	49699137	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	80	332	0	ENST00000303221.5:c.752A>T	p.Glu251Val	p.E251V	ENST00000303221	NM_198449.2	251	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3953.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTCAATG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4	.	.	ENSP00000302289	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000303221	Transcript	.	.	ENSG00000170571	30465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0.02)	.	EMB_HUMAN	EMB	HGNC	B7Z902_HUMAN	.	UPI0000160A6D	SNV	EMB,missense_variant,p.Glu201Val,ENST00000514111,;EMB,missense_variant,p.Glu251Val,ENST00000303221,;EMB,missense_variant,p.Glu197Val,ENST00000508934,;EMB,non_coding_transcript_exon_variant,,ENST00000506190,;EMB,non_coding_transcript_exon_variant,,ENST00000505896,;	968	332	249	SUCCESS
MAST4	375449	.	GRCh37	5	66255032	66255032	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	87	0	ENST00000403625.2:c.674+59222G>C		p.*225*	ENST00000403625	NM_001164664.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54861.1	.	MUTECT|MUSE	.	AGGGAGTGTGT	NONE	.	.	.	.	.	ENSP00000385727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODIFIER	4/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,5_prime_UTR_variant,,ENST00000405643,;MAST4,5_prime_UTR_variant,,ENST00000432426,;MAST4,5_prime_UTR_variant,,ENST00000407621,;MAST4,intron_variant,,ENST00000403666,;MAST4,intron_variant,,ENST00000404260,;MAST4,intron_variant,,ENST00000490016,;MAST4,intron_variant,,ENST00000411628,;MAST4,intron_variant,,ENST00000406374,;MAST4,intron_variant,,ENST00000403625,;MAST4,intron_variant,,ENST00000434115,;MAST4,intron_variant,,ENST00000432817,;MAST4,intron_variant,,ENST00000450827,;MAST4,intron_variant,,ENST00000406039,;	.	87	53	SUCCESS
FASTKD3	79072	.	GRCh37	5	7867391	7867391	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	16	0	ENST00000264669.5:c.806A>T	p.Lys269Ile	p.K269I	ENST00000264669	NM_024091.3	269	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS3873.1	806	RADIA|MUTECT|MUSE|VARSCANS	.	CCACTTTTTCA	NONE	.	.	hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF9	.	.	ENSP00000264669	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000264669	Transcript	.	.	ENSG00000124279	28758	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.284)	.	deleterious(0.02)	.	FAKD3_HUMAN	FASTKD3	HGNC	D6RHY4_HUMAN,D6RC07_HUMAN	.	UPI000020BF43	SNV	FASTKD3,missense_variant,p.Lys269Ile,ENST00000264669,;MTRR,upstream_gene_variant,,ENST00000514220,;MTRR,upstream_gene_variant,,ENST00000440940,;MTRR,upstream_gene_variant,,ENST00000341013,;FASTKD3,downstream_gene_variant,,ENST00000504695,;MTRR,upstream_gene_variant,,ENST00000502550,;FASTKD3,downstream_gene_variant,,ENST00000507572,;MTRR,upstream_gene_variant,,ENST00000506877,;MTRR,upstream_gene_variant,,ENST00000512217,;MTRR,upstream_gene_variant,,ENST00000264668,;FASTKD3,intron_variant,,ENST00000513658,;FASTKD3,intron_variant,,ENST00000282110,;MTRR,intron_variant,,ENST00000502509,;FASTKD3,missense_variant,p.Lys269Ile,ENST00000507036,;FASTKD3,3_prime_UTR_variant,,ENST00000511261,;MTRR,upstream_gene_variant,,ENST00000514369,;MTRR,upstream_gene_variant,,ENST00000510525,;MTRR,upstream_gene_variant,,ENST00000503550,;MTRR,upstream_gene_variant,,ENST00000508047,;MTRR,upstream_gene_variant,,ENST00000510279,;MTRR,upstream_gene_variant,,ENST00000513439,;FASTKD3,upstream_gene_variant,,ENST00000513577,;MTRR,upstream_gene_variant,,ENST00000511461,;	943	16	31	SUCCESS
ATG10	83734	.	GRCh37	5	81548458	81548458	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1203130917	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	112	0	ENST00000282185.3:c.531G>T	p.Lys177Asn	p.K177N	ENST00000282185	NM_031482.4	177	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS4057.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAGAATTC	NONE	.	.	hmmpanther:PTHR14957	.	.	ENSP00000282185	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000282185	Transcript	.	.	ENSG00000152348	20315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.1)	.	ATG10_HUMAN	ATG10	HGNC	D6RDX3_HUMAN,D6RC89_HUMAN	.	UPI0000037BF4	SNV	ATG10,missense_variant,p.Lys177Asn,ENST00000282185,;ATG10,missense_variant,p.Lys177Asn,ENST00000513634,;ATG10,missense_variant,p.Lys177Asn,ENST00000458350,;ATG10,non_coding_transcript_exon_variant,,ENST00000508814,;ATG10,intron_variant,,ENST00000514253,;ATG10,3_prime_UTR_variant,,ENST00000504770,;	825	112	93	SUCCESS
SYCP2L	221711	.	GRCh37	6	10924837	10924837	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	58	0	ENST00000283141.6:c.1181C>T	p.Ser394Leu	p.S394L	ENST00000283141	NM_001040274.2	394	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS43423.1	1181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCACAAG	NONE	.	.	hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607	.	.	ENSP00000283141	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000283141	Transcript	.	.	ENSG00000153157	21537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.48)	.	SYC2L_HUMAN	SYCP2L	HGNC	.	.	UPI000022CA18	SNV	SYCP2L,missense_variant,p.Ser235Leu,ENST00000543878,;SYCP2L,missense_variant,p.Ser394Leu,ENST00000283141,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,3_prime_UTR_variant,,ENST00000341041,;SYCP2L,downstream_gene_variant,,ENST00000487561,;	1477	58	90	SUCCESS
IFNGR1	3459	.	GRCh37	6	137522034	137522034	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	8	108	0	ENST00000367739.4:c.845T>C	p.Ile282Thr	p.I282T	ENST00000367739	NM_000416.2	282	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS5185.1	845	MUTECT|MUSE	.	GTAATATTATG	NONE	.	.	hmmpanther:PTHR20859:SF5,hmmpanther:PTHR20859,Pfam_domain:PF07140,Prints_domain:PR01777	.	.	ENSP00000356713	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000367739	Transcript	.	.	ENSG00000027697	5439	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	tolerated(0.45)	.	INGR1_HUMAN	IFNGR1	HGNC	Q7Z687_HUMAN,Q14936_HUMAN,E5QBZ2_HUMAN,A1Z2M9_HUMAN	.	UPI000002CE40	SNV	IFNGR1,missense_variant,p.Ile254Thr,ENST00000543628,;IFNGR1,missense_variant,p.Ile282Thr,ENST00000367739,;IFNGR1,downstream_gene_variant,,ENST00000458076,;IFNGR1,downstream_gene_variant,,ENST00000367735,;IFNGR1,downstream_gene_variant,,ENST00000414770,;	967	108	140	SUCCESS
HIST1H2BD	0	.	GRCh37	6	26158526	26158526	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	180	0	ENST00000289316.2:c.129C>G	p.Tyr43Ter	p.Y43*	ENST00000289316	NM_138720.2	43	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS4587.1	129	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTACAAGGT	NONE	.	.	Prints_domain:PR00621,Superfamily_domains:SSF47113,SMART_domains:SM00427,Pfam_domain:PF00125,Gene3D:1.10.20.10,hmmpanther:PTHR23428	.	.	ENSP00000289316	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000289316	Transcript	.	.	ENSG00000158373	4747	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H2B1D_HUMAN	HIST1H2BD	HGNC	.	.	UPI0000001BD3	SNV	HIST1H2BD,stop_gained,p.Tyr43Ter,ENST00000289316,;HIST1H2BD,stop_gained,p.Tyr43Ter,ENST00000377777,;HIST1H1E,downstream_gene_variant,,ENST00000304218,;	153	180	93	SUCCESS
ITPR3	3710	.	GRCh37	6	33652419	33652419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	193	0	ENST00000374316.5:c.5091C>A	p.Asn1697Lys	p.N1697K	ENST00000374316		1697	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS4783.1	5091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACCGGAA	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	39/59	.	.	.	.	.	.	.	.	.	39/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.21)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Asn1697Lys,ENST00000374316,;ITPR3,missense_variant,p.Asn1697Lys,ENST00000605930,;	6151	193	31	SUCCESS
BTBD9	114781	.	GRCh37	6	38565731	38565731	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	24	193	0	ENST00000481247.1:c.140T>C	p.Phe47Ser	p.F47S	ENST00000481247	NM_052893.1	47	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS47418.1	140	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAAACGT	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF101,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000418751	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000481247	Transcript	.	.	ENSG00000183826	21228	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	BTBD9_HUMAN	BTBD9	HGNC	Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN	.	UPI00001C040E	SNV	BTBD9,missense_variant,p.Phe47Ser,ENST00000481247,;BTBD9,missense_variant,p.Phe47Ser,ENST00000403056,;BTBD9,missense_variant,p.Phe47Ser,ENST00000498633,;BTBD9,5_prime_UTR_variant,,ENST00000497373,;BTBD9,upstream_gene_variant,,ENST00000419706,;BTBD9,upstream_gene_variant,,ENST00000314100,;BTBD9,upstream_gene_variant,,ENST00000408958,;BTBD9,upstream_gene_variant,,ENST00000328403,;	292	193	177	SUCCESS
MRPL2	51069	.	GRCh37	6	43023661	43023661	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1259187369	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	131	1	ENST00000388752.3:c.605G>A	p.Arg202Gln	p.R202Q	ENST00000388752	NM_015950.3	202	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34454.1	605	MUTECT|MUSE|VARSCANS	.	CACCCCGGCCT	NONE	.	.	hmmpanther:PTHR13691,hmmpanther:PTHR13691:SF15,Gene3D:2.30.30.30,Pfam_domain:PF03947,Superfamily_domains:SSF50104	.	.	ENSP00000373404	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000388752	Transcript	.	.	ENSG00000112651	14056	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.738)	.	tolerated(0.39)	.	RM02_HUMAN	MRPL2	HGNC	.	.	UPI000006FF26	SNV	MRPL2,missense_variant,p.Arg202Gln,ENST00000388752,;MRPL2,missense_variant,p.Arg202Gln,ENST00000230413,;MRPL2,intron_variant,,ENST00000489623,;MRPL2,downstream_gene_variant,,ENST00000468957,;KLC4,upstream_gene_variant,,ENST00000470728,;KLC4,upstream_gene_variant,,ENST00000479388,;CUL7,upstream_gene_variant,,ENST00000535468,;KLC4,upstream_gene_variant,,ENST00000453940,;KLC4,upstream_gene_variant,,ENST00000394056,;KLC4,upstream_gene_variant,,ENST00000259708,;KLC4,upstream_gene_variant,,ENST00000479632,;KLC4,upstream_gene_variant,,ENST00000472792,;KLC4,upstream_gene_variant,,ENST00000458460,;KLC4,upstream_gene_variant,,ENST00000347162,;KLC4,upstream_gene_variant,,ENST00000394058,;KLC4,upstream_gene_variant,,ENST00000460283,;MRPL2,downstream_gene_variant,,ENST00000487429,;CUL7,upstream_gene_variant,,ENST00000265348,;MRPL2,non_coding_transcript_exon_variant,,ENST00000470667,;MRPL2,non_coding_transcript_exon_variant,,ENST00000491898,;MRPL2,non_coding_transcript_exon_variant,,ENST00000480286,;KLC4,intron_variant,,ENST00000467906,;MRPL2,upstream_gene_variant,,ENST00000485654,;KLC4,upstream_gene_variant,,ENST00000481499,;	1030	132	113	SUCCESS
FILIP1	27145	.	GRCh37	6	76024440	76024440	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	23	136	0	ENST00000237172.7:c.1108G>T	p.Glu370Ter	p.E370*	ENST00000237172	NM_015687.2	370	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS4984.1	1108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCTCCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,stop_gained,p.Glu271Ter,ENST00000370020,;FILIP1,stop_gained,p.Glu370Ter,ENST00000393004,;FILIP1,stop_gained,p.Glu370Ter,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	1439	136	99	SUCCESS
LRRC4	64101	.	GRCh37	7	127670230	127670230	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1173588157	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	72	0	ENST00000249363.3:c.464G>A	p.Arg155His	p.R155H	ENST00000249363	NM_022143.4	155	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5799.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCGAAGC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF9,hmmpanther:PTHR24369,Pfam_domain:PF13306,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000249363	.	2/2	.	.	.	.	.	.	.	.	COSM1673519	2/2	PASS	ENST00000249363	Transcript	.	.	ENSG00000128594	15586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	tolerated(0.06)	1	LRRC4_HUMAN	LRRC4	HGNC	C9JA92_HUMAN,C9J7V8_HUMAN,C9J7K7_HUMAN	.	UPI0000049DF3	SNV	LRRC4,missense_variant,p.Arg155His,ENST00000249363,;LRRC4,missense_variant,p.Arg73His,ENST00000494115,;SND1,intron_variant,,ENST00000354725,;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000478726,;LRRC4,downstream_gene_variant,,ENST00000476782,;SND1,intron_variant,,ENST00000484767,;SND1,intron_variant,,ENST00000470723,;	722	72	26	SUCCESS
RAB19	401409	.	GRCh37	7	140125861	140125861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	145	1	ENST00000356407.3:c.565G>T	p.Gly189Trp	p.G189W	ENST00000356407		189	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS34762.2	565	RADIA|SOMATICSNIPER|VARSCANS	.	TATATGGGGAG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF391,Gene3D:3.40.50.300,SMART_domains:SM00176	.	.	ENSP00000440167	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000537763	Transcript	.	.	ENSG00000146955	19982	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.438)	.	deleterious(0.01)	.	RAB19_HUMAN	RAB19	HGNC	C9JJQ5_HUMAN	.	UPI000013DA89	SNV	RAB19,missense_variant,p.Gly189Trp,ENST00000537763,;RAB19,missense_variant,p.Gly236Trp,ENST00000275874,;RAB19,missense_variant,p.Gly189Trp,ENST00000356407,;RAB19,downstream_gene_variant,,ENST00000495590,;	763	147	60	SUCCESS
DENND2A	27147	.	GRCh37	7	140301984	140301984	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	165	0	ENST00000275884.6:c.214G>T	p.Glu72Ter	p.E72*	ENST00000275884		72	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS43659.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCCTGTC	NONE	.	.	.	.	.	ENSP00000275884	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000275884	Transcript	.	.	ENSG00000146966	22212	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,stop_gained,p.Glu72Ter,ENST00000496613,;DENND2A,stop_gained,p.Glu72Ter,ENST00000477488,;DENND2A,stop_gained,p.Glu72Ter,ENST00000537639,;DENND2A,stop_gained,p.Glu72Ter,ENST00000275884,;DENND2A,stop_gained,p.Glu72Ter,ENST00000491728,;DENND2A,stop_gained,p.Glu72Ter,ENST00000492720,;DENND2A,stop_gained,p.Glu72Ter,ENST00000489552,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,stop_gained,p.Glu72Ter,ENST00000461883,;	632	165	87	SUCCESS
SCRN1	9805	.	GRCh37	7	29980369	29980369	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	138	0	ENST00000242059.5:c.668C>G	p.Ser223Cys	p.S223C	ENST00000242059	NM_001145515.1	223	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS47567.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCGGAAAAA	NONE	.	.	hmmpanther:PTHR12994:SF7,hmmpanther:PTHR12994,Pfam_domain:PF03577	.	.	ENSP00000388942	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000434476	Transcript	.	.	ENSG00000136193	22192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0.02)	.	SCRN1_HUMAN	SCRN1	HGNC	C9K052_HUMAN,C9J7U9_HUMAN,B4DH22_HUMAN	.	UPI000194EC2F	SNV	SCRN1,missense_variant,p.Ser243Cys,ENST00000434476,;SCRN1,missense_variant,p.Ser155Cys,ENST00000425819,;SCRN1,missense_variant,p.Ser223Cys,ENST00000421434,;SCRN1,missense_variant,p.Ser223Cys,ENST00000242059,;SCRN1,missense_variant,p.Ser223Cys,ENST00000409497,;SCRN1,missense_variant,p.Ser223Cys,ENST00000426154,;SCRN1,intron_variant,,ENST00000416113,;SCRN1,downstream_gene_variant,,ENST00000438497,;SCRN1,downstream_gene_variant,,ENST00000494620,;	777	139	93	SUCCESS
SEMA3D	223117	.	GRCh37	7	84727158	84727158	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs972980958	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	13	150	0	ENST00000284136.6:c.275T>C	p.Leu92Pro	p.L92P	ENST00000284136	NM_152754.2	92	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34676.1	275	MUTECT|MUSE|VARSCANS	.	TGAGTAGAAAG	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	.	ENSP00000284136	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.983)	.	deleterious(0.02)	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,missense_variant,p.Leu92Pro,ENST00000284136,;SEMA3D,missense_variant,p.Leu92Pro,ENST00000444867,;	319	150	141	SUCCESS
ASB4	51666	.	GRCh37	7	95115314	95115314	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	113	0	ENST00000325885.5:c.31T>C	p.Ser11Pro	p.S11P	ENST00000325885	NM_016116.2	11	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS5641.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAATCTGGA	NONE	.	.	.	.	.	ENSP00000321388	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000325885	Transcript	.	.	ENSG00000005981	16009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.14)	.	ASB4_HUMAN	ASB4	HGNC	.	.	UPI00001260E8	SNV	ASB4,missense_variant,p.Ser11Pro,ENST00000325885,;ASB4,missense_variant,p.Ser11Pro,ENST00000428113,;ASB4,intron_variant,,ENST00000257621,;	102	114	84	SUCCESS
LRP12	29967	.	GRCh37	8	105509410	105509410	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	11	140	0	ENST00000276654.5:c.1370A>C	p.His457Pro	p.H457P	ENST00000276654	NM_013437.4	457	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS6303.1	1370	RADIA|MUTECT|MUSE|VARSCANS	.	TACAATGGAAA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000276654	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0.04)	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,missense_variant,p.His46Pro,ENST00000523007,;LRP12,missense_variant,p.His457Pro,ENST00000276654,;LRP12,missense_variant,p.His438Pro,ENST00000424843,;LRP12,downstream_gene_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,upstream_gene_variant,,ENST00000522046,;	1479	140	91	SUCCESS
SLC30A8	169026	.	GRCh37	8	118175765	118175765	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1404452163	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	58	0	ENST00000456015.2:c.825G>A	p.Met275Ile	p.M275I	ENST00000456015	NM_173851.2	275	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS6322.1	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATGGAAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Superfamily_domains:0054606	.	.	ENSP00000415011	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,missense_variant,p.Met226Ile,ENST00000427715,;SLC30A8,missense_variant,p.Met275Ile,ENST00000456015,;SLC30A8,missense_variant,p.Met226Ile,ENST00000519688,;SLC30A8,missense_variant,p.Met226Ile,ENST00000521243,;RN7SL826P,upstream_gene_variant,,ENST00000479724,;	825	58	38	SUCCESS
SLC30A8	169026	.	GRCh37	8	118175766	118175766	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	57	0	ENST00000456015.2:c.826G>T	p.Glu276Ter	p.E276*	ENST00000456015	NM_173851.2	276	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS6322.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGAAGGT	NONE	.	.	hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606	.	.	ENSP00000415011	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,stop_gained,p.Glu227Ter,ENST00000427715,;SLC30A8,stop_gained,p.Glu276Ter,ENST00000456015,;SLC30A8,stop_gained,p.Glu227Ter,ENST00000519688,;SLC30A8,stop_gained,p.Glu227Ter,ENST00000521243,;RN7SL826P,upstream_gene_variant,,ENST00000479724,;	826	57	38	SUCCESS
LPL	4023	.	GRCh37	8	19809442	19809442	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	161	0	ENST00000311322.8:c.412T>A	p.Phe138Ile	p.F138I	ENST00000311322	NM_000237.2	138	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS6012.1	412	MUTECT|MUSE|VARSCANS	.	CCCGGTTTATC	NONE	.	.	hmmpanther:PTHR11610:SF3,hmmpanther:PTHR11610,TIGRFAM_domain:TIGR03230,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821	.	.	ENSP00000309757	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000311322	Transcript	1	.	ENSG00000175445	6677	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	LIPL_HUMAN	LPL	HGNC	Q71UV2_HUMAN,Q4JIZ7_HUMAN,E7EW14_HUMAN,E5RJI0_HUMAN,E5RHN7_HUMAN	.	UPI0000036334	SNV	LPL,missense_variant,p.Phe62Ile,ENST00000520959,;LPL,missense_variant,p.Phe138Ile,ENST00000311322,;LPL,downstream_gene_variant,,ENST00000524029,;LPL,downstream_gene_variant,,ENST00000522701,;LPL,downstream_gene_variant,,ENST00000521994,;LPL,downstream_gene_variant,,ENST00000523696,;LPL,downstream_gene_variant,,ENST00000519773,;	882	161	63	SUCCESS
ADAMDEC1	27299	.	GRCh37	8	24256455	24256455	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	83	205	0	ENST00000256412.4:c.831A>G	p.Ile277Met	p.I277M	ENST00000256412	NM_014479.3	277	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS6044.1	831	RADIA|MUTECT|MUSE	.	AAGATAAAGGT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000256412	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000256412	Transcript	.	.	ENSG00000134028	16299	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ADEC1_HUMAN	ADAMDEC1	HGNC	B7Z6U5_HUMAN	.	UPI0000073385	SNV	ADAMDEC1,missense_variant,p.Ile277Met,ENST00000256412,;ADAMDEC1,missense_variant,p.Ile198Met,ENST00000538205,;ADAMDEC1,missense_variant,p.Ile198Met,ENST00000522298,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	1051	205	104	SUCCESS
RAB11FIP1	80223	.	GRCh37	8	37729417	37729417	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761972253	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	260	0	ENST00000330843.4:c.2903A>G	p.Asp968Gly	p.D968G	ENST00000330843	NM_001002814.2	968	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34882.1	2903	MUTECT|MUSE	.	CATCATCCGAT	NONE	.	.	hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22	.	.	ENSP00000331342	.	4/6	.	.	.	.	.	.	.	.	rs761972253	4/6	PASS	ENST00000330843	Transcript	.	.	ENSG00000156675	30265	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.856)	.	deleterious(0)	.	RFIP1_HUMAN	RAB11FIP1	HGNC	.	.	UPI0000D624B1	SNV	RAB11FIP1,missense_variant,p.Asp968Gly,ENST00000330843,;RAB11FIP1,intron_variant,,ENST00000524118,;RAB11FIP1,intron_variant,,ENST00000522727,;RAB11FIP1,intron_variant,,ENST00000287263,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000523182,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000522774,;	2916	260	99	SUCCESS
RALYL	138046	.	GRCh37	8	85785541	85785541	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	15	152	0	ENST00000521268.1:c.594C>G	p.Thr198=	p.T198=	ENST00000521268	NM_173848.5	198	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS55252.1	633	MUTECT|MUSE|VARSCANS	.	CAGACCATCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000430128	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000517638	Transcript	.	.	ENSG00000184672	27036	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RALYL	HGNC	G3V129_HUMAN,E5RIX9_HUMAN,E5RG71_HUMAN	.	UPI00002108E6	SNV	RALYL,synonymous_variant,p.%3D,ENST00000523850,;RALYL,synonymous_variant,p.%3D,ENST00000521268,;RALYL,synonymous_variant,p.%3D,ENST00000522455,;RALYL,synonymous_variant,p.%3D,ENST00000517638,;RALYL,synonymous_variant,p.%3D,ENST00000521695,;RALYL,synonymous_variant,p.%3D,ENST00000521376,;RALYL,synonymous_variant,p.%3D,ENST00000518566,;RALYL,non_coding_transcript_exon_variant,,ENST00000518065,;	757	152	159	SUCCESS
LRRC69	100130742	.	GRCh37	8	92201773	92201773	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	68	0	ENST00000448384.2:c.675A>G	p.Glu225=	p.E225=	ENST00000448384	NM_001129890.1	225	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	.	675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAATTCTA	NONE	.	.	hmmpanther:PTHR23155:SF478,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000400803	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000448384	Transcript	.	.	ENSG00000214954	34303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC69_HUMAN	LRRC69	HGNC	E5RJ66_HUMAN	.	UPI00006C0DD3	SNV	LRRC69,synonymous_variant,p.%3D,ENST00000343709,;LRRC69,synonymous_variant,p.%3D,ENST00000448384,;LRRC69,3_prime_UTR_variant,,ENST00000520099,;	675	68	65	SUCCESS
CYLC2	1539	.	GRCh37	9	105767486	105767486	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	41	116	0	ENST00000374798.3:c.573A>T	p.Lys191Asn	p.K191N	ENST00000374798	NM_001340.3	191	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS35085.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAAGATAA	BUFFER|p.D188N|c.562G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742	.	.	ENSP00000420256	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000374798	Transcript	.	.	ENSG00000155833	2583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.06)	.	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,missense_variant,p.Lys191Asn,ENST00000374798,;CYLC2,missense_variant,p.Lys191Asn,ENST00000487798,;	643	116	156	SUCCESS
GARNL3	84253	.	GRCh37	9	130073954	130073954	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	20	122	0	ENST00000373387.4:c.259G>A	p.Val87Met	p.V87M	ENST00000373387	NM_032293.4	87	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS6869.2	259	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGTGCAC	NONE	.	.	hmmpanther:PTHR15711	.	.	ENSP00000362485	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000373387	Transcript	.	.	ENSG00000136895	25425	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	GARL3_HUMAN	GARNL3	HGNC	B4DH81_HUMAN	.	UPI0000EE56F2	SNV	GARNL3,missense_variant,p.Val65Met,ENST00000425970,;GARNL3,missense_variant,p.Val87Met,ENST00000314904,;GARNL3,missense_variant,p.Val110Met,ENST00000444677,;GARNL3,missense_variant,p.Val110Met,ENST00000446764,;GARNL3,missense_variant,p.Val110Met,ENST00000439286,;GARNL3,missense_variant,p.Val65Met,ENST00000435213,;GARNL3,missense_variant,p.Val87Met,ENST00000373387,;GARNL3,non_coding_transcript_exon_variant,,ENST00000464616,;GARNL3,non_coding_transcript_exon_variant,,ENST00000498801,;GARNL3,non_coding_transcript_exon_variant,,ENST00000487565,;GARNL3,non_coding_transcript_exon_variant,,ENST00000478702,;GARNL3,missense_variant,p.Val69Met,ENST00000373386,;GARNL3,synonymous_variant,p.%3D,ENST00000429629,;GARNL3,3_prime_UTR_variant,,ENST00000453030,;GARNL3,3_prime_UTR_variant,,ENST00000441134,;GARNL3,upstream_gene_variant,,ENST00000495172,;	611	122	162	SUCCESS
NUP188	23511	.	GRCh37	9	131764256	131764256	+	splice_donor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	116	0	ENST00000372577.2:c.4137+1G>A		p.X1379_splice	ENST00000372577	NM_015354.2	1379		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35156.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGTGAGT	NONE	.	.	.	.	.	ENSP00000361658	.	.	.	.	.	.	.	.	.	.	COSM1218081	.	PASS	ENST00000372577	Transcript	.	.	ENSG00000095319	17859	.	.	HIGH	36/43	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	NU188_HUMAN	NUP188	HGNC	.	.	UPI000041A60F	SNV	NUP188,splice_donor_variant,,ENST00000372577,;RP11-167N5.5,downstream_gene_variant,,ENST00000594418,;NUP188,splice_donor_variant,,ENST00000477069,;NUP188,downstream_gene_variant,,ENST00000487952,;NUP188,downstream_gene_variant,,ENST00000495726,;	.	116	43	SUCCESS
IFNA17	3451	.	GRCh37	9	21227893	21227893	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	76	219	2	ENST00000413767.2:c.280G>A	p.Glu94Lys	p.E94K	ENST00000413767	NM_021268.2	94	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6500.1	280	RADIA|VARSCANS	.	GTCCTCTGTGC	NONE	.	.	hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266,Prints_domain:PR00266	.	.	ENSP00000411940	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000413767	Transcript	.	.	ENSG00000234829	5422	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.6)	.	IFN17_HUMAN	IFNA17	HGNC	Q9UMJ2_HUMAN	.	UPI0000052AF9	SNV	IFNA17,missense_variant,p.Glu94Lys,ENST00000413767,;IFNWP5,downstream_gene_variant,,ENST00000445100,;	329	221	208	SUCCESS
ZNF658	26149	.	GRCh37	9	40774978	40774978	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	29	0	ENST00000602553.1:c.297G>T	p.Trp99Cys	p.W99C	ENST00000602553		99	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS35023.1	297	MUTECT|MUSE|VARSCANS	.	TCTTGCCACAG	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256	.	.	ENSP00000473484	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000602553	Transcript	.	.	ENSG00000196409	25226	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.737)	.	tolerated(0.29)	.	ZN658_HUMAN	ZNF658	HGNC	B3KNB1_HUMAN	.	UPI000046D388	SNV	ZNF658,missense_variant,p.Trp97Cys,ENST00000441795,;ZNF658,missense_variant,p.Trp99Cys,ENST00000377626,;ZNF658,missense_variant,p.Trp99Cys,ENST00000602553,;ZNF658,missense_variant,p.Trp99Cys,ENST00000479710,;	592	29	59	SUCCESS
TRAPPC2	6399	.	GRCh37	X	13733990	13733990	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	70	0	ENST00000359680.5:c.324+133T>C		p.*108*	ENST00000359680	NM_014563.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS48083.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGAGATAG	NONE	.	.	.	.	.	ENSP00000392495	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458511	Transcript	.	.	ENSG00000196459	23068	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPC2A_HUMAN	TRAPPC2	HGNC	Q6IBE5_HUMAN,E5RFG0_HUMAN	.	UPI0001CA7E6C	SNV	TRAPPC2,3_prime_UTR_variant,,ENST00000519885,;TRAPPC2,intron_variant,,ENST00000380579,;TRAPPC2,intron_variant,,ENST00000453655,;TRAPPC2,intron_variant,,ENST00000358231,;TRAPPC2,intron_variant,,ENST00000458511,;TRAPPC2,intron_variant,,ENST00000359680,;TRAPPC2,downstream_gene_variant,,ENST00000518847,;TRAPPC2,non_coding_transcript_exon_variant,,ENST00000380578,;TRAPPC2,non_coding_transcript_exon_variant,,ENST00000517553,;TRAPPC2,non_coding_transcript_exon_variant,,ENST00000519382,;	.	70	61	SUCCESS
MAGEA12	4111	.	GRCh37	X	151900290	151900290	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782340637	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	223	354	1	ENST00000357916.4:c.511C>A	p.Arg171Ser	p.R171S	ENST00000357916	NM_005367.5	171	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS14710.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCGGACCA	NONE	byFrequency	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF74,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000377478	.	3/3	.	.	.	.	.	.	.	.	rs782340637	3/3	PASS	ENST00000393900	Transcript	.	.	ENSG00000213401	6799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.04)	.	MAGAC_HUMAN	MAGEA12	HGNC	Q6FHH8_HUMAN	.	UPI0000000C51	SNV	MAGEA12,missense_variant,p.Arg171Ser,ENST00000393869,;MAGEA12,missense_variant,p.Arg171Ser,ENST00000357916,;MAGEA12,missense_variant,p.Arg171Ser,ENST00000393900,;CSAG1,upstream_gene_variant,,ENST00000370287,;CSAG1,upstream_gene_variant,,ENST00000452779,;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;CSAG4,upstream_gene_variant,,ENST00000535353,;	865	356	284	SUCCESS
FAM47B	170062	.	GRCh37	X	34961245	34961245	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	41	123	0	ENST00000329357.5:c.297G>A	p.Lys99=	p.K99=	ENST00000329357	NM_152631.2	99	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS14236.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAGAAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Pfam_domain:PF14642	.	.	ENSP00000328307	.	1/1	.	.	.	.	.	.	.	.	COSM1557701	1/1	PASS	ENST00000329357	Transcript	.	.	ENSG00000189132	26659	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FA47B_HUMAN	FAM47B	HGNC	.	.	UPI000013F47B	SNV	FAM47B,synonymous_variant,p.%3D,ENST00000329357,;	333	123	80	SUCCESS
ACRC	0	.	GRCh37	X	70824088	70824088	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	83	129	0	ENST00000373695.1:c.961G>A	p.Asp321Asn	p.D321N	ENST00000373695		321	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS35326.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATGATTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23099,hmmpanther:PTHR23099:SF0	.	.	ENSP00000362799	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000373695	Transcript	.	.	ENSG00000147174	15805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ACRC_HUMAN	ACRC	HGNC	.	.	UPI0000072023	SNV	ACRC,missense_variant,p.Asp321Asn,ENST00000373695,;ACRC,missense_variant,p.Asp321Asn,ENST00000373696,;ACRC,upstream_gene_variant,,ENST00000471950,;	1498	130	120	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83359655	83359655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	144	94	0	ENST00000262752.2:c.1466A>G	p.Asp489Gly	p.D489G	ENST00000262752	NM_014496.4	489	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS14451.1	1466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCATCATCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000262752	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.Asp489Gly,ENST00000262752,;RPS6KA6,missense_variant,p.Asp489Gly,ENST00000543399,;RPS6KA6,non_coding_transcript_exon_variant,,ENST00000495332,;	1474	94	162	SUCCESS
ATRNL1	26033	.	GRCh37	10	117059734	117059734	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	48	167	1	ENST00000355044.3:c.2606G>A	p.Gly869Asp	p.G869D	ENST00000355044	NM_207303.2	869	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS7592.1	2606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGCCTTG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000347152	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Gly869Asp,ENST00000355044,;ATRNL1,upstream_gene_variant,,ENST00000526373,;ATRNL1,upstream_gene_variant,,ENST00000423111,;ATRNL1,upstream_gene_variant,,ENST00000303745,;ATRNL1,upstream_gene_variant,,ENST00000534530,;	2732	168	136	SUCCESS
DKK1	22943	.	GRCh37	10	54076473	54076473	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759707601	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	6	148	0	ENST00000373970.3:c.707G>A	p.Arg236His	p.R236H	ENST00000373970	NM_012242.2	236	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS7246.1	707	MUTECT|MUSE	.	CCAGCGTTGTT	NONE	.	.	Gene3D:2.10.80.10	.	.	ENSP00000363081	.	4/4	.	.	.	.	.	.	.	.	rs759707601,COSM1348191	4/4	PASS	ENST00000373970	Transcript	1	.	ENSG00000107984	2891	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	DKK1_HUMAN	DKK1	HGNC	I1W660_HUMAN	.	UPI000004C65E	SNV	DKK1,missense_variant,p.Arg236His,ENST00000373970,;PRKG1-AS1,upstream_gene_variant,,ENST00000420193,;DKK1,non_coding_transcript_exon_variant,,ENST00000494277,;DKK1,non_coding_transcript_exon_variant,,ENST00000476752,;DKK1,downstream_gene_variant,,ENST00000467359,;	846	148	167	SUCCESS
ASB13	79754	.	GRCh37	10	5683746	5683746	+	synonymous_variant	Silent	SNP	G	G	A	rs144206251	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	53	106	1	ENST00000357700.6:c.696C>T	p.Phe232=	p.F232=	ENST00000357700	NM_024701.3	232	ttC/ttT	0	T:0	.	.	.	.	A	F	protein_coding	YES	CCDS7070.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCGAAGCA	NONE	byCluster	.	hmmpanther:PTHR24196	.	T:0.0001	ENSP00000350331	.	5/6	.	.	.	.	.	.	.	.	rs144206251,COSM919073	5/6	PASS	ENST00000357700	Transcript	.	.	ENSG00000196372	19765	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ASB13_HUMAN	ASB13	HGNC	.	.	UPI00001260DE	SNV	ASB13,synonymous_variant,p.%3D,ENST00000357700,;ASB13,non_coding_transcript_exon_variant,,ENST00000493897,;ASB13,non_coding_transcript_exon_variant,,ENST00000479033,;ASB13,3_prime_UTR_variant,,ENST00000459912,;	723	107	84	SUCCESS
PLAU	5328	.	GRCh37	10	75673403	75673403	+	synonymous_variant	Silent	SNP	C	C	T	rs761463492	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	76	150	0	ENST00000372764.3:c.567C>T	p.Asn189=	p.N189=	ENST00000372764	NM_002658.3	189	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS7339.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACCAGCC	NONE	byFrequency	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF9,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000361850	.	7/11	.	.	.	.	.	.	.	.	rs761463492	7/11	PASS	ENST00000372764	Transcript	1	.	ENSG00000122861	9052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UROK_HUMAN	PLAU	HGNC	S4R3G7_HUMAN,Q9UEJ5_HUMAN,Q96SE8_HUMAN	.	UPI000013CB02	SNV	PLAU,synonymous_variant,p.%3D,ENST00000446342,;PLAU,synonymous_variant,p.%3D,ENST00000372762,;PLAU,synonymous_variant,p.%3D,ENST00000372764,;C10orf55,intron_variant,,ENST00000412307,;C10orf55,intron_variant,,ENST00000409178,;PLAU,downstream_gene_variant,,ENST00000481390,;PLAU,non_coding_transcript_exon_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;	660	150	146	SUCCESS
GHITM	27069	.	GRCh37	10	85902445	85902445	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758527392	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	81	0	ENST00000372134.3:c.164G>A	p.Arg55His	p.R55H	ENST00000372134	NM_014394.2	55	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS41542.1	164	MUTECT|MUSE	.	CCGGCGTGGGA	NONE	byFrequency	.	Pfam_domain:PF12811,hmmpanther:PTHR23291:SF32,hmmpanther:PTHR23291,Low_complexity_(Seg):seg	.	.	ENSP00000361207	.	3/9	.	.	.	.	.	.	.	.	rs758527392,COSM1638662	3/9	PASS	ENST00000372134	Transcript	.	.	ENSG00000165678	17281	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.036)	.	tolerated(0.08)	0,1	GHITM_HUMAN	GHITM	HGNC	Q9P099_HUMAN,Q658I8_HUMAN,Q5VT94_HUMAN,B4DPG9_HUMAN	.	UPI0000049DE6	SNV	GHITM,missense_variant,p.Arg55His,ENST00000372134,;RP11-338I21.1,upstream_gene_variant,,ENST00000606511,;	357	81	105	SUCCESS
ADIRF-AS1	100133190	.	GRCh37	10	88730161	88730161	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	30	32	0	ENST00000609111.1:n.908C>T		p.*303*	ENST00000609111				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7381.1	.	RADIA|MUTECT|MUSE	.	CCCAGGCCAGG	NONE	.	.	.	.	.	ENSP00000361083	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372013	Transcript	.	.	ENSG00000148671	24043	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADIRF_HUMAN	ADIRF	HGNC	Q5TBU5_HUMAN	.	UPI0000000C61	SNV	ADIRF,intron_variant,,ENST00000372013,;ADIRF,intron_variant,,ENST00000416348,;MMRN2,upstream_gene_variant,,ENST00000474994,;MMRN2,upstream_gene_variant,,ENST00000609457,;RP11-96C23.15,non_coding_transcript_exon_variant,,ENST00000609363,;ADIRF-AS1,non_coding_transcript_exon_variant,,ENST00000609111,;ADIRF-AS1,non_coding_transcript_exon_variant,,ENST00000418273,;ADIRF-AS1,upstream_gene_variant,,ENST00000440490,;RP11-96C23.5,upstream_gene_variant,,ENST00000433214,;ADIRF,intron_variant,,ENST00000561504,;ADIRF-AS1,upstream_gene_variant,,ENST00000609170,;	.	32	42	SUCCESS
PGR	5241	.	GRCh37	11	100996842	100996842	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	16	96	0	ENST00000325455.5:c.1685T>G	p.Leu562Ter	p.L562*	ENST00000325455	NM_001202474.3	562	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS8310.1	1685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAATGAC	NONE	.	.	hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161,Prints_domain:PR00544	.	.	ENSP00000325120	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,stop_gained,p.Leu562Ter,ENST00000263463,;PGR,stop_gained,p.Leu562Ter,ENST00000325455,;PGR,5_prime_UTR_variant,,ENST00000534013,;PGR,stop_gained,p.Leu562Ter,ENST00000534780,;PGR,stop_gained,p.Leu562Ter,ENST00000528960,;PGR,stop_gained,p.Leu562Ter,ENST00000526300,;	3139	96	91	SUCCESS
OR10G8	219869	.	GRCh37	11	123900967	123900967	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	273	28	329	0	ENST00000431524.1:c.638del	p.Ile213LysfsTer47	p.I213Kfs*47	ENST00000431524	NM_001004464.1	213	aTa/aa	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS31704.1	638	VARSCANI*|PINDEL	.	TCCTGATAGTGC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262	.	.	ENSP00000389072	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000431524	Transcript	.	.	ENSG00000234560	14845	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O10G8_HUMAN	OR10G8	HGNC	.	.	UPI0000040A8F	deletion	OR10G8,frameshift_variant,p.Ile213LysfsTer47,ENST00000431524,;	671	329	301	SUCCESS
FLI1	2313	.	GRCh37	11	128680417	128680417	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	62	1	ENST00000527786.2:c.893G>A	p.Ser298Asn	p.S298N	ENST00000527786	NM_001271010.1	298	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS44768.1	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGCTGTA	NONE	.	.	Superfamily_domains:SSF46785,SMART_domains:SM00413,Gene3D:1.10.10.10,Pfam_domain:PF00178,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF180,PROSITE_profiles:PS50061	.	.	ENSP00000433488	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000527786	Transcript	.	.	ENSG00000151702	3749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.69)	.	.	FLI1	HGNC	.	.	UPI000012A972	SNV	FLI1,missense_variant,p.Ser232Asn,ENST00000281428,;FLI1,missense_variant,p.Ser105Asn,ENST00000525560,;FLI1,missense_variant,p.Ser265Asn,ENST00000534087,;FLI1,missense_variant,p.Ser265Asn,ENST00000344954,;FLI1,missense_variant,p.Ser298Asn,ENST00000527786,;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,3_prime_UTR_variant,,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000528790,;	1382	63	40	SUCCESS
AGBL2	79841	.	GRCh37	11	47727469	47727469	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	46	131	1	ENST00000525123.1:c.233G>A	p.Trp78Ter	p.W78*	ENST00000525123	NM_024783.3	78	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7944.1	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCCCTAGA	NONE	.	.	hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF7	.	.	ENSP00000435582	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000525123	Transcript	.	.	ENSG00000165923	26296	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC2_HUMAN	AGBL2	HGNC	E9PJH3_HUMAN,E9PI49_HUMAN	.	UPI00001A95E3	SNV	AGBL2,stop_gained,p.Trp78Ter,ENST00000528244,;AGBL2,stop_gained,p.Trp78Ter,ENST00000357610,;AGBL2,stop_gained,p.Trp78Ter,ENST00000298861,;AGBL2,stop_gained,p.Trp78Ter,ENST00000525123,;AGBL2,stop_gained,p.Trp58Ter,ENST00000530577,;AGBL2,stop_gained,p.Trp78Ter,ENST00000529154,;AGBL2,intron_variant,,ENST00000532595,;AGBL2,splice_region_variant,,ENST00000526331,;AGBL2,intron_variant,,ENST00000529712,;AGBL2,downstream_gene_variant,,ENST00000531835,;AGBL2,splice_region_variant,,ENST00000528632,;AGBL2,splice_region_variant,,ENST00000532835,;	519	132	91	SUCCESS
FEN1	2237	.	GRCh37	11	61563319	61563319	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	88	0	ENST00000305885.2:c.486C>T	p.Ser162=	p.S162=	ENST00000305885	NM_004111.5	162	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8010.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCTGTGC	NONE	.	.	HAMAP:MF_00614,hmmpanther:PTHR11081,PROSITE_patterns:PS00842,Pfam_domain:PF00867,Gene3D:3.40.50.1010,SMART_domains:SM00484,Superfamily_domains:SSF88723,Prints_domain:PR00853	.	.	ENSP00000305480	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305885	Transcript	.	.	ENSG00000168496	3650	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FEN1_HUMAN	FEN1	HGNC	Q6FHX6_HUMAN,F5H1Y3_HUMAN,B4DWZ4_HUMAN	.	UPI0000050E0F	SNV	FEN1,synonymous_variant,p.%3D,ENST00000535723,;FEN1,synonymous_variant,p.%3D,ENST00000305885,;FADS2,intron_variant,,ENST00000574708,;TMEM258,upstream_gene_variant,,ENST00000537328,;FEN1,upstream_gene_variant,,ENST00000535307,;FADS1,downstream_gene_variant,,ENST00000350997,;TMEM258,upstream_gene_variant,,ENST00000543510,;MIR611,upstream_gene_variant,,ENST00000384869,;TMEM258,upstream_gene_variant,,ENST00000545210,;TMEM258,upstream_gene_variant,,ENST00000540434,;TMEM258,upstream_gene_variant,,ENST00000535297,;TMEM258,upstream_gene_variant,,ENST00000541893,;TMEM258,upstream_gene_variant,,ENST00000257262,;	899	88	63	SUCCESS
CNIH2	254263	.	GRCh37	11	66050237	66050237	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	141	0	ENST00000311445.6:c.184T>C	p.Cys62Arg	p.C62R	ENST00000311445	NM_182553.2	62	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS8131.1	184	RADIA|SOMATICSNIPER|VARSCANS	.	TCTGCTGCCTC	NONE	.	.	hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF13,Pfam_domain:PF03311	.	.	ENSP00000310003	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000311445	Transcript	.	.	ENSG00000174871	28744	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.392)	.	tolerated(0.45)	.	CNIH2_HUMAN	CNIH2	HGNC	.	.	UPI000000DC89	SNV	CNIH2,missense_variant,p.Cys62Arg,ENST00000528852,;CNIH2,missense_variant,p.Cys62Arg,ENST00000311445,;YIF1A,downstream_gene_variant,,ENST00000359461,;YIF1A,downstream_gene_variant,,ENST00000496746,;YIF1A,downstream_gene_variant,,ENST00000376901,;YIF1A,downstream_gene_variant,,ENST00000431556,;YIF1A,downstream_gene_variant,,ENST00000471387,;YIF1A,downstream_gene_variant,,ENST00000528575,;RP11-867G23.3,upstream_gene_variant,,ENST00000501708,;CNIH2,non_coding_transcript_exon_variant,,ENST00000530519,;YIF1A,downstream_gene_variant,,ENST00000526497,;CNIH2,3_prime_UTR_variant,,ENST00000528063,;CNIH2,3_prime_UTR_variant,,ENST00000534826,;CNIH2,non_coding_transcript_exon_variant,,ENST00000531936,;YIF1A,downstream_gene_variant,,ENST00000376899,;YIF1A,downstream_gene_variant,,ENST00000474986,;YIF1A,downstream_gene_variant,,ENST00000485820,;YIF1A,downstream_gene_variant,,ENST00000484814,;YIF1A,downstream_gene_variant,,ENST00000494836,;	442	141	61	SUCCESS
CNIH2	254263	.	GRCh37	11	66050238	66050238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	138	0	ENST00000311445.6:c.185G>T	p.Cys62Phe	p.C62F	ENST00000311445	NM_182553.2	62	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS8131.1	185	RADIA|SOMATICSNIPER|VARSCANS	.	CTGCTGCCTCC	NONE	.	.	hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF13,Pfam_domain:PF03311	.	.	ENSP00000310003	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000311445	Transcript	.	.	ENSG00000174871	28744	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.51)	.	CNIH2_HUMAN	CNIH2	HGNC	.	.	UPI000000DC89	SNV	CNIH2,missense_variant,p.Cys62Phe,ENST00000528852,;CNIH2,missense_variant,p.Cys62Phe,ENST00000311445,;YIF1A,downstream_gene_variant,,ENST00000359461,;YIF1A,downstream_gene_variant,,ENST00000496746,;YIF1A,downstream_gene_variant,,ENST00000376901,;YIF1A,downstream_gene_variant,,ENST00000431556,;YIF1A,downstream_gene_variant,,ENST00000471387,;YIF1A,downstream_gene_variant,,ENST00000528575,;RP11-867G23.3,upstream_gene_variant,,ENST00000501708,;CNIH2,non_coding_transcript_exon_variant,,ENST00000530519,;YIF1A,downstream_gene_variant,,ENST00000526497,;CNIH2,3_prime_UTR_variant,,ENST00000528063,;CNIH2,3_prime_UTR_variant,,ENST00000534826,;CNIH2,non_coding_transcript_exon_variant,,ENST00000531936,;YIF1A,downstream_gene_variant,,ENST00000376899,;YIF1A,downstream_gene_variant,,ENST00000474986,;YIF1A,downstream_gene_variant,,ENST00000485820,;YIF1A,downstream_gene_variant,,ENST00000484814,;YIF1A,downstream_gene_variant,,ENST00000494836,;	443	138	61	SUCCESS
CNIH2	254263	.	GRCh37	11	66050239	66050239	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	138	0	ENST00000311445.6:c.186C>T	p.Cys62=	p.C62=	ENST00000311445	NM_182553.2	62	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS8131.1	186	RADIA|SOMATICSNIPER|VARSCANS	.	TGCTGCCTCCT	NONE	.	.	hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF13,Pfam_domain:PF03311	.	.	ENSP00000310003	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000311445	Transcript	.	.	ENSG00000174871	28744	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNIH2_HUMAN	CNIH2	HGNC	.	.	UPI000000DC89	SNV	CNIH2,synonymous_variant,p.%3D,ENST00000528852,;CNIH2,synonymous_variant,p.%3D,ENST00000311445,;YIF1A,downstream_gene_variant,,ENST00000359461,;YIF1A,downstream_gene_variant,,ENST00000496746,;YIF1A,downstream_gene_variant,,ENST00000376901,;YIF1A,downstream_gene_variant,,ENST00000431556,;YIF1A,downstream_gene_variant,,ENST00000471387,;YIF1A,downstream_gene_variant,,ENST00000528575,;RP11-867G23.3,upstream_gene_variant,,ENST00000501708,;CNIH2,non_coding_transcript_exon_variant,,ENST00000530519,;YIF1A,downstream_gene_variant,,ENST00000526497,;CNIH2,3_prime_UTR_variant,,ENST00000528063,;CNIH2,3_prime_UTR_variant,,ENST00000534826,;CNIH2,non_coding_transcript_exon_variant,,ENST00000531936,;YIF1A,downstream_gene_variant,,ENST00000376899,;YIF1A,downstream_gene_variant,,ENST00000474986,;YIF1A,downstream_gene_variant,,ENST00000485820,;YIF1A,downstream_gene_variant,,ENST00000484814,;YIF1A,downstream_gene_variant,,ENST00000494836,;	444	138	62	SUCCESS
KNTC1	9735	.	GRCh37	12	123104994	123104994	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	53	0	ENST00000333479.7:c.6150-32G>T		p.*2050*	ENST00000333479	NM_014708.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45002.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGATTAT	NONE	.	.	.	.	.	ENSP00000328236	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODIFIER	59/63	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	HCAR1,3_prime_UTR_variant,,ENST00000356987,;KNTC1,5_prime_UTR_variant,,ENST00000534995,;KNTC1,intron_variant,,ENST00000436959,;KNTC1,intron_variant,,ENST00000537348,;KNTC1,intron_variant,,ENST00000333479,;KNTC1,intron_variant,,ENST00000450485,;KNTC1,downstream_gene_variant,,ENST00000546125,;KNTC1,intron_variant,,ENST00000541427,;KNTC1,downstream_gene_variant,,ENST00000539013,;	.	53	34	SUCCESS
KNTC1	9735	.	GRCh37	12	123104995	123104995	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	55	0	ENST00000333479.7:c.6150-31A>T		p.*2050*	ENST00000333479	NM_014708.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45002.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGATTATT	NONE	.	.	.	.	.	ENSP00000328236	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODIFIER	59/63	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	HCAR1,3_prime_UTR_variant,,ENST00000356987,;KNTC1,5_prime_UTR_variant,,ENST00000534995,;KNTC1,intron_variant,,ENST00000436959,;KNTC1,intron_variant,,ENST00000537348,;KNTC1,intron_variant,,ENST00000333479,;KNTC1,intron_variant,,ENST00000450485,;KNTC1,downstream_gene_variant,,ENST00000546125,;KNTC1,intron_variant,,ENST00000541427,;KNTC1,downstream_gene_variant,,ENST00000539013,;	.	55	35	SUCCESS
COL2A1	1280	.	GRCh37	12	48389497	48389498	+	inframe_insertion	In_Frame_Ins	INS	-	-	CACCAGGTT	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	187	19	257	0	ENST00000380518.3:c.695_703dup	p.Glu232_Gly234dup	p.E232_G234dup	ENST00000380518	NM_033150.2	232	gtc/gAACCTGGTGtc	0	.	.	.	.	.	CACCAGGTT	V/EPGV	protein_coding	YES	CCDS41778.1	703-704	INDELOCATOR|VARSCANI	.	CAGAGACACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Pfam_domain:PF01391	.	.	ENSP00000369889	.	10/54	.	.	.	.	.	.	.	.	.	10/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	insertion	COL2A1,inframe_insertion,p.Glu232_Gly234dup,ENST00000380518,;COL2A1,inframe_insertion,p.Glu163_Gly165dup,ENST00000337299,;COL2A1,downstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000474996,;COL2A1,downstream_gene_variant,,ENST00000490609,;	868-869	257	206	SUCCESS
AQP5	362	.	GRCh37	12	50358790	50358790	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs901182462	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	43	137	0	ENST00000293599.6:c.628C>T	p.Pro210Ser	p.P210S	ENST00000293599	NM_001651.3	210	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8793.1	628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGCCCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF38,hmmpanther:PTHR19139,Pfam_domain:PF00230,Gene3D:1.20.1080.10,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338,Prints_domain:PR00783	.	.	ENSP00000293599	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000293599	Transcript	.	.	ENSG00000161798	638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	deleterious(0.01)	.	AQP5_HUMAN	AQP5	HGNC	.	.	UPI000004A0C9	SNV	AQP5,missense_variant,p.Pro210Ser,ENST00000293599,;AQP6,upstream_gene_variant,,ENST00000551733,;RP11-469H8.6,upstream_gene_variant,,ENST00000550214,;RP11-469H8.6,upstream_gene_variant,,ENST00000552379,;RP11-469H8.6,upstream_gene_variant,,ENST00000550530,;AQP5,non_coding_transcript_exon_variant,,ENST00000553132,;AQP6,upstream_gene_variant,,ENST00000489786,;	776	137	71	SUCCESS
PTPRR	5801	.	GRCh37	12	71314290	71314290	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	8	0	ENST00000283228.2:c.-120C>G		p.*40*	ENST00000283228	NM_002849.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8998.1	.	MUTECT|MUSE	.	GCTGGGGTTTG	NONE	.	.	.	.	.	ENSP00000283228	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000283228	Transcript	.	.	ENSG00000153233	9680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRR_HUMAN	PTPRR	HGNC	Q68CP6_HUMAN,F8VVE9_HUMAN	.	UPI000013DD2F	SNV	PTPRR,5_prime_UTR_variant,,ENST00000283228,;	334	8	9	SUCCESS
FLT1	2321	.	GRCh37	13	28964106	28964106	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	21	203	0	ENST00000282397.4:c.1796C>G	p.Thr599Arg	p.T599R	ENST00000282397	NM_002019.4	599	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS9330.1	1796	RADIA|MUTECT|MUSE|VARSCANS	.	GCATTGTTCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000282397	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.956)	.	tolerated(0.05)	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,missense_variant,p.Thr599Arg,ENST00000282397,;FLT1,missense_variant,p.Thr599Arg,ENST00000541932,;	2048	203	204	SUCCESS
EDNRB	1910	.	GRCh37	13	78477636	78477636	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	104	1	ENST00000334286.5:c.590T>A	p.Ile197Asn	p.I197N	ENST00000334286	NM_001122659.2	197	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS55902.1	860	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAATACTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366416	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,missense_variant,p.Ile197Asn,ENST00000446573,;EDNRB,missense_variant,p.Ile287Asn,ENST00000377211,;EDNRB,missense_variant,p.Ile197Asn,ENST00000334286,;	1013	105	97	SUCCESS
TARSL2	0	.	GRCh37	15	102252128	102252128	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146271638	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	6	162	0	ENST00000335968.3:c.767C>T	p.Pro256Leu	p.P256L	ENST00000335968	NM_152334.2	256	cCg/cTg	0	A:0.0005	.	.	.	.	A	P/L	protein_coding	YES	CCDS10394.1	767	MUTECT|MUSE	.	TGGGCGGACCG	NONE	byFrequency|byCluster	.	HAMAP:MF_00184,hmmpanther:PTHR11451:SF19,hmmpanther:PTHR11451,Gene3D:1tkeA02,TIGRFAM_domain:TIGR00418,Superfamily_domains:SSF55186	.	A:0	ENSP00000338093	.	5/19	.	.	.	.	.	.	.	.	rs146271638	5/19	PASS	ENST00000335968	Transcript	.	.	ENSG00000185418	24728	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	SYTC2_HUMAN	TARSL2	HGNC	.	.	UPI00001FE055	SNV	TARSL2,missense_variant,p.Pro256Leu,ENST00000335968,;TARSL2,missense_variant,p.Pro256Leu,ENST00000539112,;TARSL2,upstream_gene_variant,,ENST00000558533,;TARSL2,downstream_gene_variant,,ENST00000560150,;	984	162	142	SUCCESS
MGA	23269	.	GRCh37	15	42054412	42054412	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	83	171	0	ENST00000219905.7:c.7596G>A	p.Lys2532=	p.K2532=	ENST00000219905	NM_001164273.1	2532	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS55959.1	7596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGATGGG	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000568255,;	7777	172	150	SUCCESS
DUOX2	50506	.	GRCh37	15	45387780	45387780	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	116	0	ENST00000603300.1:c.4094G>A	p.Gly1365Glu	p.G1365E	ENST00000603300	NM_014080.4	1365	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS10117.1	4094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTCCATCA	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Gene3D:2.40.30.10,Pfam_domain:PF08022,Superfamily_domains:SSF63380	.	.	ENSP00000475084	.	31/34	.	.	.	.	.	.	.	.	COSM3501617	31/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.978)	.	deleterious(0)	1	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.Gly1365Glu,ENST00000389039,;DUOX2,missense_variant,p.Gly1365Glu,ENST00000603300,;DUOX2,downstream_gene_variant,,ENST00000558383,;DUOX2,downstream_gene_variant,,ENST00000560797,;	4297	116	78	SUCCESS
SCAPER	49855	.	GRCh37	15	77025616	77025616	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs954630744	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	39	101	0	ENST00000324767.7:c.1976G>A	p.Arg659His	p.R659H	ENST00000324767	NM_020843.2	659	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS53962.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACGCTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2	.	.	ENSP00000454973	.	16/32	.	.	.	.	.	.	.	.	COSM1374674	16/32	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Arg659His,ENST00000324767,;SCAPER,missense_variant,p.Arg413His,ENST00000538941,;SCAPER,missense_variant,p.Arg659His,ENST00000563290,;SCAPER,missense_variant,p.Arg665His,ENST00000564590,;SCAPER,missense_variant,p.Arg665His,ENST00000565970,;RN7SKP217,upstream_gene_variant,,ENST00000364640,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	2072	101	96	SUCCESS
IGF1R	3480	.	GRCh37	15	99454654	99454654	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201778894	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	64	177	1	ENST00000268035.6:c.1573G>A	p.Val525Ile	p.V525I	ENST00000268035	NM_000875.3	525	Gtt/Att	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS10378.1	1573	RADIA|SOMATICSNIPER|VARSCANS	.	TCACCGTTTAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	A:0	.	ENSP00000268035	A:0.001	7/21	.	.	.	.	.	.	.	.	rs201778894	7/21	PASS	ENST00000268035	Transcript	1	A:0.0002	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.483)	A:0	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Val525Ile,ENST00000558762,;IGF1R,missense_variant,p.Val525Ile,ENST00000268035,;IGF1R,downstream_gene_variant,,ENST00000558898,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559582,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000560144,;	2184	178	158	SUCCESS
APOBR	55911	.	GRCh37	16	28507978	28507978	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777439097	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	55	122	2	ENST00000431282.1:c.1589C>T	p.Ala530Val	p.A530V	ENST00000431282		530	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS58442.1	1616	SOMATICSNIPER|VARSCANS	.	TGAGGCGGCCC	NONE	byFrequency	.	hmmpanther:PTHR15964,hmmpanther:PTHR15964:SF0	.	.	ENSP00000457539	.	2/4	.	.	.	.	.	.	.	.	rs777439097,COSM969468	2/4	PASS	ENST00000564831	Transcript	.	.	ENSG00000184730	24087	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.001)	.	tolerated(0.18)	0,1	APOBR_HUMAN	APOBR	HGNC	.	.	UPI000013EFFC	SNV	APOBR,missense_variant,p.Ala530Val,ENST00000431282,;APOBR,missense_variant,p.Ala530Val,ENST00000328423,;APOBR,missense_variant,p.Ala539Val,ENST00000564831,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000354630,;CLN3,upstream_gene_variant,,ENST00000357857,;IL27,downstream_gene_variant,,ENST00000356897,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000357076,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000359984,;CLN3,upstream_gene_variant,,ENST00000360019,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000535392,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000568497,;	1649	124	56	SUCCESS
CNTNAP4	85445	.	GRCh37	16	76482022	76482022	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	64	132	0	ENST00000478060.1:c.577G>C	p.Asp193His	p.D193H	ENST00000478060	NM_138994.3	193	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS10924.2	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGATGGG	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000418741	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000478060	Transcript	.	.	ENSG00000152910	18747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	deleterious(0.02)	.	CNTP4_HUMAN	CNTNAP4	HGNC	H3BPC8_HUMAN	.	UPI000059D3C6	SNV	CNTNAP4,missense_variant,p.Asp193His,ENST00000478060,;CNTNAP4,missense_variant,p.Asp217His,ENST00000377504,;CNTNAP4,missense_variant,p.Asp217His,ENST00000307431,;CNTNAP4,missense_variant,p.Asp221His,ENST00000476707,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	577	132	70	SUCCESS
MYO15A	51168	.	GRCh37	17	18055202	18055202	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	164	0	ENST00000205890.5:c.7830T>A	p.His2610Gln	p.H2610Q	ENST00000205890	NM_016239.3	2610	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS42271.1	7830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCATGAGGA	NONE	.	.	.	.	.	ENSP00000205890	.	41/66	.	.	.	.	.	.	.	.	.	41/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,missense_variant,p.His2610Gln,ENST00000205890,;MYO15A,upstream_gene_variant,,ENST00000585180,;MYO15A,upstream_gene_variant,,ENST00000418233,;MYO15A,upstream_gene_variant,,ENST00000445289,;MYO15A,downstream_gene_variant,,ENST00000578999,;MYO15A,upstream_gene_variant,,ENST00000536811,;	8168	164	124	SUCCESS
SOST	50964	.	GRCh37	17	41836014	41836014	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1249296225	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	88	0	ENST00000301691.2:c.96T>A	p.Asp32Glu	p.D32E	ENST00000301691	NM_025237.2	32	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS11468.1	96	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCATCATT	NONE	.	.	hmmpanther:PTHR14903,hmmpanther:PTHR14903:SF4,Pfam_domain:PF05463	.	.	ENSP00000301691	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000301691	Transcript	.	.	ENSG00000167941	13771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	SOST_HUMAN	SOST	HGNC	.	.	UPI0000035BBE	SNV	SOST,missense_variant,p.Asp32Glu,ENST00000301691,;	143	88	63	SUCCESS
ITGB4	3691	.	GRCh37	17	73729759	73729759	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	73	0	ENST00000200181.3:c.1643G>A	p.Gly548Glu	p.G548E	ENST00000200181	NM_000213.3	548	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS11727.1	1643	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGGGTTCC	NONE	.	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Pfam_domain:PF07974,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002513,Superfamily_domains:SSF57196	.	.	ENSP00000200181	.	13/40	.	.	.	.	.	.	.	.	.	13/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Gly548Glu,ENST00000579662,;ITGB4,missense_variant,p.Gly548Glu,ENST00000450894,;ITGB4,missense_variant,p.Gly548Glu,ENST00000339591,;ITGB4,missense_variant,p.Gly548Glu,ENST00000449880,;ITGB4,missense_variant,p.Gly548Glu,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;	1830	73	34	SUCCESS
DTNA	1837	.	GRCh37	18	32428268	32428268	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs374916548	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	38	77	0	ENST00000399113.3:c.1274A>G	p.Glu425Gly	p.E425G	ENST00000399113		425	gAg/gGg	0	G:0	.	.	.	.	G	E/G	protein_coding	YES	CCDS59312.1	1094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGAGAGTT	NONE	byCluster	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF268,PIRSF_domain:PIRSF038204	.	G:0.0002	ENSP00000470152	.	12/20	.	.	.	.	.	.	.	.	rs374916548	12/20	PASS	ENST00000598334	Transcript	.	.	ENSG00000134769	3057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	tolerated(0.12)	.	.	DTNA	HGNC	M0QYX6_HUMAN,K7ERZ2_HUMAN,K7ERH7_HUMAN,K7ER73_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN	.	UPI0001E92A2F	SNV	DTNA,missense_variant,p.Glu425Gly,ENST00000399113,;DTNA,missense_variant,p.Glu422Gly,ENST00000348997,;DTNA,missense_variant,p.Glu365Gly,ENST00000598334,;DTNA,missense_variant,p.Glu368Gly,ENST00000598774,;DTNA,missense_variant,p.Glu365Gly,ENST00000597599,;DTNA,missense_variant,p.Glu24Gly,ENST00000587723,;DTNA,missense_variant,p.Glu47Gly,ENST00000597674,;DTNA,missense_variant,p.Glu425Gly,ENST00000444659,;DTNA,missense_variant,p.Glu365Gly,ENST00000399121,;DTNA,missense_variant,p.Glu426Gly,ENST00000269190,;DTNA,missense_variant,p.Glu77Gly,ENST00000556414,;DTNA,missense_variant,p.Glu425Gly,ENST00000269191,;DTNA,missense_variant,p.Glu73Gly,ENST00000591182,;DTNA,missense_variant,p.Glu368Gly,ENST00000598142,;DTNA,missense_variant,p.Glu47Gly,ENST00000599844,;DTNA,missense_variant,p.Glu134Gly,ENST00000269192,;DTNA,missense_variant,p.Glu365Gly,ENST00000595022,;DTNA,missense_variant,p.Glu47Gly,ENST00000601125,;DTNA,missense_variant,p.Glu368Gly,ENST00000283365,;DTNA,missense_variant,p.Glu73Gly,ENST00000399097,;DTNA,intron_variant,,ENST00000596745,;DTNA,non_coding_transcript_exon_variant,,ENST00000601895,;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;	1420	77	41	SUCCESS
ADAMTSL5	339366	.	GRCh37	19	1510383	1510383	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758342918	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	14	0	ENST00000330475.4:c.236G>A	p.Arg79His	p.R79H	ENST00000330475	NM_213604.2	79	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12071.1	236	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGGTAC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF146,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000327608	.	4/12	.	.	.	.	.	.	.	.	rs758342918	4/12	PASS	ENST00000330475	Transcript	.	.	ENSG00000185761	27912	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.299)	.	deleterious(0.01)	.	ATL5_HUMAN	ADAMTSL5	HGNC	A4QPG6_HUMAN	.	UPI00001D8216	SNV	ADAMTSL5,missense_variant,p.Arg79His,ENST00000330475,;ADAMTSL5,missense_variant,p.Arg89His,ENST00000413997,;ADAMTSL5,5_prime_UTR_variant,,ENST00000395467,;ADAMTSL5,upstream_gene_variant,,ENST00000590090,;CTB-25B13.9,downstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585804,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000586272,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590562,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000589839,;ADAMTSL5,upstream_gene_variant,,ENST00000590682,;ADAMTSL5,upstream_gene_variant,,ENST00000587828,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;	680	14	16	SUCCESS
MEGF8	1954	.	GRCh37	19	42839240	42839240	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	89	0	ENST00000251268.6:c.612G>A	p.Leu204=	p.L204=	ENST00000251268		204	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12604.2	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGCACCT	NONE	.	.	.	.	.	ENSP00000334219	.	4/41	.	.	.	.	.	.	.	.	.	4/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,synonymous_variant,p.%3D,ENST00000334370,;MEGF8,synonymous_variant,p.%3D,ENST00000251268,;	1247	89	50	SUCCESS
ZNF321P	399669	.	GRCh37	19	53432442	53432442	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	65	159	0	ENST00000391777.3:c.416C>T	p.Thr139Ile	p.T139I	ENST00000391777		139	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS56101.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTGTACTA	NONE	.	.	hmmpanther:PTHR24407:SF13,hmmpanther:PTHR24407	.	.	ENSP00000375656	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391777	Transcript	.	.	ENSG00000221874	13827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	deleterious(0.04)	.	ZN321_HUMAN	ZNF321P	HGNC	.	.	UPI000041A073	SNV	ZNF321P,missense_variant,p.Thr139Ile,ENST00000391777,;ZNF816,missense_variant,p.Thr139Ile,ENST00000434371,;ZNF816,missense_variant,p.Thr70Ile,ENST00000549216,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000313956,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000550843,;	538	159	132	SUCCESS
NRAS	4893	.	GRCh37	1	115256530	115256530	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs121913254	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	89	0	ENST00000369535.4:c.181C>A	p.Gln61Lys	p.Q61K	ENST00000369535	NM_002524.4	61	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS877.1	181	RADIA|MUTECT|MUSE|VARSCANS	not_provided,pathogenic	TTCTTGTCCAG	SITE|p.Q61K|c.181C>A|790,CODON|p.Q61L|c.182_183AA>TG|3,CODON|p.Q61H|c.183A>T|77,CODON|p.Q61Q|c.183A>G|4,CODON|p.Q61H|c.183A>C|43,CODON|p.Q61L|c.181_182CA>TT|3,CODON|p.Q61R|c.181_182CA>AG|4,CODON|p.Q61K|c.180_181AC>TA|3,CODON|p.Q61R|c.182A>G|1096,CODON|p.Q61P|c.182A>C|23,CODON|p.Q61L|c.182A>T|242,BUFFER|p.E62Q|c.184G>C|4,BUFFER|p.Q61E|c.181C>G|10,BUFFER|p.G60E|c.179G>A|7,BUFFER|p.A59D|c.176C>A|3,BUFFER|p.A59T|c.175G>A|5,BUFFER|p.T58T|c.174A>G|3	byCluster	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF189,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000358548	.	3/7	.	.	.	.	.	.	.	.	rs121913254,COSM580,COSM581	3/7	PASS	ENST00000369535	Transcript	.	.	ENSG00000213281	7989	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	benign(0.045)	.	deleterious(0.01)	0,1,1	RASN_HUMAN	NRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,Q5U091_HUMAN,P78460_HUMAN	.	UPI0000001254	SNV	NRAS,missense_variant,p.Gln61Lys,ENST00000369535,;CSDE1,downstream_gene_variant,,ENST00000369530,;CSDE1,downstream_gene_variant,,ENST00000261443,;CSDE1,downstream_gene_variant,,ENST00000358528,;CSDE1,downstream_gene_variant,,ENST00000339438,;CSDE1,downstream_gene_variant,,ENST00000530886,;CSDE1,downstream_gene_variant,,ENST00000534699,;CSDE1,downstream_gene_variant,,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000483407,;	435	89	63	SUCCESS
NUP210L	91181	.	GRCh37	1	154127337	154127337	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	20	165	1	ENST00000368559.3:c.184C>T	p.Gln62Ter	p.Q62*	ENST00000368559	NM_207308.2	62	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS41399.1	184	MUTECT|MUSE	.	CCGCTGGGCCT	NONE	.	.	hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	1/40	.	.	.	.	.	.	.	.	.	1/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,stop_gained,p.Gln62Ter,ENST00000368559,;NUP210L,stop_gained,p.Gln62Ter,ENST00000271854,;TPM3,downstream_gene_variant,,ENST00000368531,;TPM3,downstream_gene_variant,,ENST00000341372,;TPM3,downstream_gene_variant,,ENST00000328159,;TPM3,downstream_gene_variant,,ENST00000302206,;TPM3,downstream_gene_variant,,ENST00000271850,;TPM3,downstream_gene_variant,,ENST00000341485,;TPM3,downstream_gene_variant,,ENST00000323144,;TPM3,downstream_gene_variant,,ENST00000368533,;TPM3,downstream_gene_variant,,ENST00000330188,;TPM3,downstream_gene_variant,,ENST00000312970,;TPM3,downstream_gene_variant,,ENST00000469717,;TPM3,downstream_gene_variant,,ENST00000509409,;TPM3,downstream_gene_variant,,ENST00000368545,;TPM3,downstream_gene_variant,,ENST00000513769,;	256	166	273	SUCCESS
CCT3	7203	.	GRCh37	1	156287253	156287253	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	26	121	0	ENST00000295688.3:c.845T>A	p.Ile282Asn	p.I282N	ENST00000295688	NM_005998.4	282	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS1140.2	845	RADIA|MUTECT|MUSE|VARSCANS	.	GGATAATGTCC	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	.	.	ENSP00000295688	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Ile237Asn,ENST00000368261,;CCT3,missense_variant,p.Ile244Asn,ENST00000368259,;CCT3,missense_variant,p.Ile237Asn,ENST00000472765,;CCT3,missense_variant,p.Ile282Asn,ENST00000295688,;CCT3,downstream_gene_variant,,ENST00000446905,;CCT3,downstream_gene_variant,,ENST00000533194,;CCT3,downstream_gene_variant,,ENST00000496684,;CCT3,downstream_gene_variant,,ENST00000413555,;CCT3,downstream_gene_variant,,ENST00000478640,;CCT3,downstream_gene_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,downstream_gene_variant,,ENST00000490221,;	1126	122	214	SUCCESS
PAPPA2	60676	.	GRCh37	1	176759013	176759013	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	39	123	0	ENST00000367662.3:c.4784G>A	p.Cys1595Tyr	p.C1595Y	ENST00000367662	NM_020318.2	1595	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS41438.1	4784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTGTGAGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000356634	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,missense_variant,p.Cys1595Tyr,ENST00000367662,;PAPPA2,upstream_gene_variant,,ENST00000479836,;	5948	123	141	SUCCESS
RNF2	6045	.	GRCh37	1	185067215	185067215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	14	73	0	ENST00000367510.3:c.476G>T	p.Gly159Val	p.G159V	ENST00000367510	NM_007212.3	159	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1365.1	476	RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGGCAAGA	NONE	.	.	hmmpanther:PTHR10825:SF25,hmmpanther:PTHR10825	.	.	ENSP00000356480	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000367510	Transcript	.	.	ENSG00000121481	10061	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.598)	.	tolerated(0.59)	.	RING2_HUMAN	RNF2	HGNC	.	.	UPI000007131D	SNV	RNF2,missense_variant,p.Gly159Val,ENST00000453650,;RNF2,missense_variant,p.Gly87Val,ENST00000367509,;RNF2,missense_variant,p.Gly159Val,ENST00000367510,;	764	74	106	SUCCESS
CRB1	23418	.	GRCh37	1	197297620	197297620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	6	90	0	ENST00000367400.3:c.139G>T	p.Asp47Tyr	p.D47Y	ENST00000367400	NM_201253.2	47	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1390.1	139	MUTECT|MUSE	.	GCAAAGATTTT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00181	.	.	ENSP00000356370	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.07)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Asp47Tyr,ENST00000367399,;CRB1,missense_variant,p.Asp47Tyr,ENST00000538660,;CRB1,missense_variant,p.Asp47Tyr,ENST00000367400,;CRB1,5_prime_UTR_variant,,ENST00000535699,;CRB1,upstream_gene_variant,,ENST00000543483,;CRB1,missense_variant,p.Asp47Tyr,ENST00000484075,;CRB1,non_coding_transcript_exon_variant,,ENST00000475659,;	274	90	153	SUCCESS
IPO9	55705	.	GRCh37	1	201827625	201827625	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	62	179	0	ENST00000361565.4:c.1272A>C	p.Ala424=	p.A424=	ENST00000361565	NM_018085.4	424	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS1415.1	1272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGCCAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354742	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000361565	Transcript	.	.	ENSG00000198700	19425	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO9_HUMAN	IPO9	HGNC	.	.	UPI000007304B	SNV	IPO9,synonymous_variant,p.%3D,ENST00000361565,;	1341	179	212	SUCCESS
TMCC2	9911	.	GRCh37	1	205238236	205238236	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	336	68	313	0	ENST00000358024.3:c.906G>A	p.Gln302=	p.Q302=	ENST00000358024	NM_014858.3	302	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS30984.1	906	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGATCAA	NONE	.	.	hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9,Pfam_domain:PF10267	.	.	ENSP00000350718	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000358024	Transcript	.	.	ENSG00000133069	24239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMCC2_HUMAN	TMCC2	HGNC	.	.	UPI00002056FC	SNV	TMCC2,synonymous_variant,p.%3D,ENST00000329800,;TMCC2,synonymous_variant,p.%3D,ENST00000330675,;TMCC2,synonymous_variant,p.%3D,ENST00000358024,;TMCC2,synonymous_variant,p.%3D,ENST00000545499,;TMCC2,synonymous_variant,p.%3D,ENST00000367159,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,intron_variant,,ENST00000468846,;	1295	313	404	SUCCESS
ESRRG	2104	.	GRCh37	1	216680496	216680496	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141423098	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	85	217	2	ENST00000408911.3:c.1162G>A	p.Val388Ile	p.V388I	ENST00000408911	NM_001438.3	388	Gtt/Att	0	T:0	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS58061.1	1198	RADIA|VARSCANS	.	CTGAACGGCTT	NONE	byCluster|by1000G	.	Prints_domain:PR01292,Superfamily_domains:SSF48508,SMART_domains:SM00430,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24084	T:0.001	T:0.0001	ENSP00000355904	T:0	8/8	.	.	.	.	.	.	.	.	rs141423098,COSM377379	8/8	PASS	ENST00000366937	Transcript	.	T:0.0002	ENSG00000196482	3474	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.287)	T:0	tolerated(0.05)	0,1	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,missense_variant,p.Val365Ile,ENST00000493748,;ESRRG,missense_variant,p.Val365Ile,ENST00000487276,;ESRRG,missense_variant,p.Val372Ile,ENST00000391890,;ESRRG,missense_variant,p.Val365Ile,ENST00000366938,;ESRRG,missense_variant,p.Val326Ile,ENST00000463665,;ESRRG,missense_variant,p.Val400Ile,ENST00000366937,;ESRRG,missense_variant,p.Val365Ile,ENST00000360012,;ESRRG,missense_variant,p.Val365Ile,ENST00000361395,;ESRRG,missense_variant,p.Val388Ile,ENST00000408911,;ESRRG,missense_variant,p.Val365Ile,ENST00000366940,;ESRRG,missense_variant,p.Val365Ile,ENST00000361525,;ESRRG,missense_variant,p.Val365Ile,ENST00000359162,;ESRRG,missense_variant,p.Val365Ile,ENST00000493603,;	1465	220	276	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227192740	227192740	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	218	7	136	0	ENST00000334218.5:c.5011C>T	p.Pro1671Ser	p.P1671S	ENST00000334218		1671	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1558.1	4825	MUTECT|MUSE	.	CTCAGGGCGGG	NONE	.	.	.	.	.	ENSP00000355731	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	deleterious(0.05)	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,missense_variant,p.Pro1528Ser,ENST00000366767,;CDC42BPA,missense_variant,p.Pro507Ser,ENST00000429440,;CDC42BPA,missense_variant,p.Pro938Ser,ENST00000442054,;CDC42BPA,missense_variant,p.Pro1609Ser,ENST00000366769,;CDC42BPA,missense_variant,p.Pro1622Ser,ENST00000366765,;CDC42BPA,missense_variant,p.Pro874Ser,ENST00000448940,;CDC42BPA,missense_variant,p.Pro1671Ser,ENST00000334218,;CDC42BPA,missense_variant,p.Pro1581Ser,ENST00000366764,;CDC42BPA,missense_variant,p.Pro1644Ser,ENST00000366766,;CDC42BPA,missense_variant,p.Pro1589Ser,ENST00000535525,;	6117	136	225	SUCCESS
PGBD5	79605	.	GRCh37	1	230468774	230468774	+	synonymous_variant	Silent	SNP	G	G	A	rs1353673493	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	32	40	0	ENST00000525115.1:c.882C>T	p.Cys294=	p.C294=	ENST00000525115		294	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	.	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCGCAGCA	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000431404	.	5/7	.	.	.	.	.	.	.	.	COSM905355	5/7	PASS	ENST00000525115	Transcript	.	.	ENSG00000177614	19405	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PGBD5_HUMAN	PGBD5	HGNC	.	.	UPI0001D34147	SNV	PGBD5,synonymous_variant,p.%3D,ENST00000321327,;PGBD5,synonymous_variant,p.%3D,ENST00000391860,;PGBD5,synonymous_variant,p.%3D,ENST00000525115,;PGBD5,non_coding_transcript_exon_variant,,ENST00000530424,;	906	40	53	SUCCESS
DSCAM	1826	.	GRCh37	21	41427743	41427743	+	synonymous_variant	Silent	SNP	C	C	A	rs374386822	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	72	201	0	ENST00000400454.1:c.4944G>T	p.Thr1648=	p.T1648=	ENST00000400454	NM_001271534.1	1648	acG/acT	0	T:0	.	.	.	.	A	T	protein_coding	YES	CCDS42929.1	4944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAACGTATC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16	.	T:0.0001	ENSP00000383303	.	29/33	.	.	.	.	.	.	.	.	rs374386822	29/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,synonymous_variant,p.%3D,ENST00000404019,;DSCAM,synonymous_variant,p.%3D,ENST00000400454,;	5422	201	134	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107459569	107459569	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	18	0	ENST00000361686.4:c.865C>A	p.His289Asn	p.H289N	ENST00000361686	NM_032528.2	289	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS2073.1	865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGCAGCT	BUFFER|p.R291C|c.871C>T|3	.	.	hmmpanther:PTHR13713:SF48,hmmpanther:PTHR13713,Pfam_domain:PF00777	.	.	ENSP00000386942	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	.	.	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,missense_variant,p.His289Asn,ENST00000409087,;ST6GAL2,missense_variant,p.His289Asn,ENST00000409382,;ST6GAL2,missense_variant,p.His289Asn,ENST00000361686,;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	1476	18	19	SUCCESS
WDR33	55339	.	GRCh37	2	128477498	128477498	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	46	0	ENST00000322313.4:c.2101C>A	p.Pro701Thr	p.P701T	ENST00000322313	NM_018383.4	701	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2150.1	2101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGACCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22836,Pfam_domain:PF01391	.	.	ENSP00000325377	.	16/22	.	.	.	.	.	.	.	.	COSM3894701	16/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	1	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,missense_variant,p.Pro701Thr,ENST00000322313,;	2260	46	29	SUCCESS
TTN	7273	.	GRCh37	2	179441674	179441674	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	109	0	ENST00000591111.1:c.64465C>A	p.Pro21489Thr	p.P21489T	ENST00000591111		21489	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59435.1	69388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGGTTCAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10	.	.	ENSP00000467141	.	324/363	.	.	.	.	.	.	.	.	.	324/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro14190Thr,ENST00000359218,;TTN,missense_variant,p.Pro21489Thr,ENST00000591111,;TTN,missense_variant,p.Pro23130Thr,ENST00000589042,;TTN,missense_variant,p.Pro14257Thr,ENST00000342175,;TTN,missense_variant,p.Pro20562Thr,ENST00000342992,;TTN,missense_variant,p.Pro14065Thr,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	69613	109	121	SUCCESS
TTN	7273	.	GRCh37	2	179485580	179485580	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	30	92	0	ENST00000591111.1:c.40834T>C	p.Tyr13612His	p.Y13612H	ENST00000591111		13612	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS59435.1	45757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTATTTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	247/363	.	.	.	.	.	.	.	.	.	247/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr6313His,ENST00000359218,;TTN,missense_variant,p.Tyr13612His,ENST00000591111,;TTN,missense_variant,p.Tyr15253His,ENST00000589042,;TTN,missense_variant,p.Tyr12685His,ENST00000342992,;TTN,missense_variant,p.Tyr6380His,ENST00000342175,;TTN,missense_variant,p.Tyr6188His,ENST00000460472,;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;	45982	92	150	SUCCESS
ABCA12	26154	.	GRCh37	2	215862522	215862522	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	73	170	0	ENST00000272895.7:c.3191G>T	p.Ser1064Ile	p.S1064I	ENST00000272895	NM_173076.2	1064	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS33372.1	3191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACACTGGTT	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,Transmembrane_helices:TMhelix	.	.	ENSP00000272895	.	23/53	.	.	.	.	.	.	.	.	.	23/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.247)	.	deleterious(0.04)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Ser746Ile,ENST00000389661,;ABCA12,missense_variant,p.Ser1064Ile,ENST00000272895,;	3411	170	199	SUCCESS
ABCB6	10058	.	GRCh37	2	220081465	220081465	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	124	159	2	ENST00000265316.3:c.777A>G	p.Pro259=	p.P259=	ENST00000265316	NM_005689.2	259	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS2436.1	777	RADIA|VARSCANS	.	AGAGCTGGACT	NONE	.	.	hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01	.	.	ENSP00000265316	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000265316	Transcript	.	.	ENSG00000115657	47	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCB6_HUMAN	ABCB6	HGNC	U3THN0_HUMAN,H7C1R6_HUMAN	.	UPI000004C4BA	SNV	ABCB6,synonymous_variant,p.%3D,ENST00000265316,;ABCB6,synonymous_variant,p.%3D,ENST00000439002,;ABCB6,synonymous_variant,p.%3D,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000429920,;ATG9A,downstream_gene_variant,,ENST00000361242,;ATG9A,downstream_gene_variant,,ENST00000409422,;ATG9A,downstream_gene_variant,,ENST00000396761,;ATG9A,downstream_gene_variant,,ENST00000409618,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,intron_variant,,ENST00000448398,;ABCB6,intron_variant,,ENST00000452545,;ABCB6,intron_variant,,ENST00000417678,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000497882,;ABCB6,upstream_gene_variant,,ENST00000492953,;ABCB6,upstream_gene_variant,,ENST00000494639,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000492543,;ATG9A,downstream_gene_variant,,ENST00000409033,;	1094	162	218	SUCCESS
ITSN2	50618	.	GRCh37	2	24535152	24535152	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	220	55	268	0	ENST00000355123.4:c.281A>T	p.Gln94Leu	p.Q94L	ENST00000355123	NM_006277.2	94	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1710.2	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTGTTGG	NONE	.	.	Superfamily_domains:SSF47473,SMART_domains:SM00027,Gene3D:1.10.238.10,hmmpanther:PTHR11216:SF29,hmmpanther:PTHR11216,PROSITE_profiles:PS50031,Low_complexity_(Seg):seg	.	.	ENSP00000347244	.	5/40	.	.	.	.	.	.	.	.	.	5/40	PASS	ENST00000355123	Transcript	.	.	ENSG00000198399	6184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.2)	.	ITSN2_HUMAN	ITSN2	HGNC	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN	.	UPI000013D415	SNV	ITSN2,missense_variant,p.Gln80Leu,ENST00000443927,;ITSN2,missense_variant,p.Gln94Leu,ENST00000412011,;ITSN2,missense_variant,p.Gln94Leu,ENST00000406921,;ITSN2,missense_variant,p.Gln94Leu,ENST00000355123,;ITSN2,missense_variant,p.Gln94Leu,ENST00000361999,;ITSN2,non_coding_transcript_exon_variant,,ENST00000407704,;	725	268	275	SUCCESS
LCLAT1	253558	.	GRCh37	2	30863264	30863264	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775496768	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	58	142	1	ENST00000309052.4:c.1024G>A	p.Val342Ile	p.V342I	ENST00000309052	NM_182551.3	342	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1772.1	1024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGTCCTT	NONE	.	.	hmmpanther:PTHR10983:SF18,hmmpanther:PTHR10983	.	.	ENSP00000310551	.	7/7	.	.	.	.	.	.	.	.	rs775496768	7/7	PASS	ENST00000309052	Transcript	.	.	ENSG00000172954	26756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.2)	.	LCLT1_HUMAN	LCLAT1	HGNC	C9JUV9_HUMAN,C9JMW2_HUMAN,C9J6F4_HUMAN,C9J5S5_HUMAN	.	UPI00000389F6	SNV	LCLAT1,missense_variant,p.Val304Ile,ENST00000540623,;LCLAT1,missense_variant,p.Val342Ile,ENST00000309052,;LCLAT1,missense_variant,p.Val304Ile,ENST00000379509,;LCLAT1,non_coding_transcript_exon_variant,,ENST00000491680,;LCLAT1,3_prime_UTR_variant,,ENST00000478015,;	1233	143	130	SUCCESS
TMEM247	388946	.	GRCh37	2	46707702	46707702	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	66	116	0	ENST00000434431.1:c.276G>T	p.Leu92=	p.L92=	ENST00000434431	NM_001145051.2	92	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS56117.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGCCCCC	NONE	.	.	Pfam_domain:PF15444	.	.	ENSP00000388684	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000434431	Transcript	.	.	ENSG00000187600	42967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM247_HUMAN	TMEM247	HGNC	.	.	UPI0000366EF8	SNV	TMEM247,synonymous_variant,p.%3D,ENST00000434431,;TMEM247,intron_variant,,ENST00000432241,;	276	116	121	SUCCESS
SPTBN1	6711	.	GRCh37	2	54753649	54753649	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs779141673	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	55	121	0	ENST00000356805.4:c.94A>T	p.Asn32Tyr	p.N32Y	ENST00000356805	NM_003128.2	32	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS33198.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACAATGAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF47576,PIRSF_domain:PIRSF002297	.	.	ENSP00000349259	.	2/36	.	.	.	.	.	.	.	.	rs779141673	2/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.29)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Asn32Tyr,ENST00000356805,;SPTBN1,missense_variant,p.Asn32Tyr,ENST00000389980,;AC092839.3,intron_variant,,ENST00000433475,;SPTBN1,non_coding_transcript_exon_variant,,ENST00000602898,;RPL23AP32,upstream_gene_variant,,ENST00000395315,;	375	121	114	SUCCESS
HHLA2	11148	.	GRCh37	3	108076864	108076864	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs867459767	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	54	145	0	ENST00000357759.5:c.859C>T	p.Arg287Ter	p.R287*	ENST00000357759	NM_007072.2	287	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46883.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCCGATTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF44,hmmpanther:PTHR24100,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000350402	.	6/10	.	.	.	.	.	.	.	.	variant.76351,COSM4112056,COSM4112055	6/10	PASS	ENST00000357759	Transcript	.	.	ENSG00000114455	4905	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	HHLA2_HUMAN	HHLA2	HGNC	C9JY43_HUMAN,C9JY13_HUMAN,C9JD07_HUMAN,C9J8J7_HUMAN	.	UPI0000073CD9	SNV	HHLA2,stop_gained,p.Arg287Ter,ENST00000489514,;HHLA2,stop_gained,p.Arg190Ter,ENST00000482099,;HHLA2,stop_gained,p.Arg287Ter,ENST00000357759,;HHLA2,stop_gained,p.Arg223Ter,ENST00000467562,;HHLA2,stop_gained,p.Arg287Ter,ENST00000467761,;HHLA2,stop_gained,p.Arg287Ter,ENST00000491820,;HHLA2,downstream_gene_variant,,ENST00000467282,;HHLA2,downstream_gene_variant,,ENST00000482430,;HHLA2,downstream_gene_variant,,ENST00000463019,;HHLA2,downstream_gene_variant,,ENST00000462629,;	1273	145	101	SUCCESS
DPPA2	151871	.	GRCh37	3	109026919	109026919	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	5	159	1	ENST00000478945.1:c.618C>A	p.Ser206=	p.S206=	ENST00000478945	NM_138815.3	206	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2956.1	618	MUTECT|MUSE	.	GGAATGGAACA	NONE	.	.	Pfam_domain:PF14049,hmmpanther:PTHR16073:SF7,hmmpanther:PTHR16073	.	.	ENSP00000417710	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000478945	Transcript	.	.	ENSG00000163530	19197	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPPA2_HUMAN	DPPA2	HGNC	.	.	UPI000007143F	SNV	DPPA2,synonymous_variant,p.%3D,ENST00000478945,;	865	160	133	SUCCESS
ZBED2	79413	.	GRCh37	3	111312778	111312778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	35	0	ENST00000317012.4:c.271G>T	p.Val91Phe	p.V91F	ENST00000317012	NM_024508.4	91	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS2960.2	271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGACCCCAG	NONE	.	.	PROSITE_profiles:PS50808,Pfam_domain:PF02892,SMART_domains:SM00614,Superfamily_domains:SSF57667	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.55)	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	SNV	ZBED2,missense_variant,p.Val91Phe,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	1280	35	36	SUCCESS
KIAA2018	0	.	GRCh37	3	113375328	113375328	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	17	200	0	ENST00000316407.4:c.5201G>T	p.Cys1734Phe	p.C1734F	ENST00000316407	NM_001009899.2	1734	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS43133.1	5201	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACAATCA	NONE	.	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,missense_variant,p.Cys1734Phe,ENST00000478658,;KIAA2018,missense_variant,p.Cys1734Phe,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	5612	200	148	SUCCESS
ADCY5	111	.	GRCh37	3	123033087	123033087	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372853437	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	86	406	0	ENST00000462833.1:c.2437G>A	p.Val813Ile	p.V813I	ENST00000462833	NM_183357.2	813	Gta/Ata	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS3022.1	2437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTACGCAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	.	T:0.0001	ENSP00000419361	.	12/21	.	.	.	.	.	.	.	.	rs372853437	12/21	PASS	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,missense_variant,p.Val813Ile,ENST00000462833,;ADCY5,missense_variant,p.Val446Ile,ENST00000491190,;ADCY5,missense_variant,p.Val372Ile,ENST00000466617,;ADCY5,missense_variant,p.Val463Ile,ENST00000309879,;ADCY5,non_coding_transcript_exon_variant,,ENST00000468683,;	3650	407	266	SUCCESS
CHST2	9435	.	GRCh37	3	142840620	142840620	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	24	41	0	ENST00000309575.3:c.962C>T	p.Pro321Leu	p.P321L	ENST00000309575	NM_004267.4	321	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3129.1	962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	.	.	ENSP00000307911	.	2/2	.	.	.	.	.	.	.	.	COSM1419689	2/2	PASS	ENST00000309575	Transcript	.	.	ENSG00000175040	1970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	CHST2_HUMAN	CHST2	HGNC	.	.	UPI0000073CBC	SNV	CHST2,missense_variant,p.Pro321Leu,ENST00000309575,;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	2346	41	34	SUCCESS
FGD5	152273	.	GRCh37	3	14964028	14964028	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	82	0	ENST00000285046.5:c.3780G>A	p.Arg1260=	p.R1260=	ENST00000285046	NM_152536.3	1260	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46767.1	3780	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGCGTCA	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Gene3D:3.30.40.10,Pfam_domain:PF01363,SMART_domains:SM00064,Superfamily_domains:SSF50729	.	.	ENSP00000285046	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000285046	Transcript	.	.	ENSG00000154783	19117	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,synonymous_variant,p.%3D,ENST00000285046,;FGD5,synonymous_variant,p.%3D,ENST00000543601,;FGD5-AS1,intron_variant,,ENST00000430166,;FGD5,non_coding_transcript_exon_variant,,ENST00000468662,;FGD5,non_coding_transcript_exon_variant,,ENST00000476851,;	3890	82	95	SUCCESS
SLC33A1	9197	.	GRCh37	3	155571528	155571528	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	55	106	0	ENST00000359479.3:c.259A>G	p.Ile87Val	p.I87V	ENST00000359479	NM_004733.3	87	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3173.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAATACCCT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF13000,TIGRFAM_domain:TIGR00901,hmmpanther:PTHR12778,hmmpanther:PTHR12778:SF3	.	.	ENSP00000376587	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000392845	Transcript	.	.	ENSG00000169359	95	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.16)	.	ACATN_HUMAN	SLC33A1	HGNC	.	.	UPI000006E3FD	SNV	SLC33A1,missense_variant,p.Ile87Val,ENST00000392845,;SLC33A1,missense_variant,p.Ile87Val,ENST00000359479,;SLC33A1,upstream_gene_variant,,ENST00000475842,;SLC33A1,upstream_gene_variant,,ENST00000460729,;SLC33A1,upstream_gene_variant,,ENST00000468581,;	640	106	93	SUCCESS
NAALADL2	254827	.	GRCh37	3	174951769	174951769	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	62	0	ENST00000454872.1:c.594G>T	p.Lys198Asn	p.K198N	ENST00000454872	NM_207015.2	198	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS46960.1	594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGAAGAT	NONE	.	.	hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000404705	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000454872	Transcript	.	.	ENSG00000177694	23219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.01)	.	NADL2_HUMAN	NAALADL2	HGNC	C9JQ86_HUMAN	.	UPI0000161608	SNV	NAALADL2,missense_variant,p.Lys198Asn,ENST00000454872,;NAALADL2-AS2,downstream_gene_variant,,ENST00000424690,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;	722	62	61	SUCCESS
CCDC39	339829	.	GRCh37	3	180361989	180361989	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	25	0	ENST00000442201.2:c.1584C>T	p.Ser528=	p.S528=	ENST00000442201	NM_181426.1	528	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46964.1	1584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGGGACTG	NONE	.	.	hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,synonymous_variant,p.%3D,ENST00000273654,;CCDC39,synonymous_variant,p.%3D,ENST00000442201,;CCDC39,synonymous_variant,p.%3D,ENST00000476379,;	1704	25	18	SUCCESS
ITGA9	3680	.	GRCh37	3	37574884	37574884	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369791724	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	65	150	0	ENST00000264741.5:c.1453G>A	p.Gly485Arg	p.G485R	ENST00000264741	NM_002207.2	485	Gga/Aga	0	.	A:0	.	A:0	.	A	G/R	protein_coding	YES	CCDS2669.1	1453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACGGACAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A02,Superfamily_domains:SSF69179	A:0.001	.	ENSP00000264741	A:0	14/28	.	.	.	.	.	.	.	.	rs369791724	14/28	PASS	ENST00000264741	Transcript	.	A:0.0002	ENSG00000144668	6145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	A:0	tolerated(0.08)	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,missense_variant,p.Gly485Arg,ENST00000264741,;ITGA9,missense_variant,p.Gly485Arg,ENST00000422441,;	1709	150	154	SUCCESS
EPHA3	2042	.	GRCh37	3	89456488	89456488	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	63	155	0	ENST00000336596.2:c.1664T>A	p.Leu555His	p.L555H	ENST00000336596	NM_005233.5	555	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS2922.1	1664	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTCCTCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	.	.	ENSP00000337451	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.02)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Leu555His,ENST00000494014,;EPHA3,missense_variant,p.Leu555His,ENST00000336596,;	1889	155	121	SUCCESS
LHFPL4	375323	.	GRCh37	3	9594219	9594219	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	102	0	ENST00000287585.6:c.145G>A	p.Asp49Asn	p.D49N	ENST00000287585	NM_198560.2	49	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33691.1	145	MUTECT|MUSE	.	GCTGTCGCCCA	NONE	.	.	hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF14,Pfam_domain:PF10242	.	.	ENSP00000287585	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000287585	Transcript	.	.	ENSG00000156959	29568	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	LHPL4_HUMAN	LHFPL4	HGNC	.	.	UPI000019B16A	SNV	LHFPL4,missense_variant,p.Asp49Asn,ENST00000287585,;LHFPL4,downstream_gene_variant,,ENST00000498277,;LHFPL4,upstream_gene_variant,,ENST00000495730,;	431	102	103	SUCCESS
KIAA1109	84162	.	GRCh37	4	123193335	123193335	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	30	164	0	ENST00000264501.4:c.8221C>G	p.Pro2741Ala	p.P2741A	ENST00000264501		2741	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS43267.1	8221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCAACA	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	48/86	.	.	.	.	.	.	.	.	.	48/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Pro2741Ala,ENST00000455637,;KIAA1109,missense_variant,p.Pro1314Ala,ENST00000446180,;KIAA1109,missense_variant,p.Pro2741Ala,ENST00000264501,;KIAA1109,missense_variant,p.Pro2741Ala,ENST00000388738,;KIAA1109,missense_variant,p.Pro699Ala,ENST00000419325,;	8594	165	91	SUCCESS
HPGD	3248	.	GRCh37	4	175439184	175439184	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	102	0	ENST00000296522.6:c.262T>A	p.Leu88Met	p.L88M	ENST00000296522	NM_001256307.1	88	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS3821.1	262	MUTECT|MUSE|VARSCANS	.	GACCAAAATGT	NONE	.	.	hmmpanther:PTHR24310,hmmpanther:PTHR24310:SF35,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00080,Prints_domain:PR00081	.	.	ENSP00000296522	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000296522	Transcript	1	.	ENSG00000164120	5154	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.967)	.	tolerated(0.14)	.	PGDH_HUMAN	HPGD	HGNC	Q9NZQ5_HUMAN,D6RA83_HUMAN,D6RA66_HUMAN	.	UPI000000105B	SNV	HPGD,missense_variant,p.Leu88Met,ENST00000296522,;HPGD,missense_variant,p.Leu88Met,ENST00000296521,;HPGD,missense_variant,p.Leu88Met,ENST00000504433,;HPGD,missense_variant,p.Leu88Met,ENST00000542498,;HPGD,5_prime_UTR_variant,,ENST00000506910,;HPGD,5_prime_UTR_variant,,ENST00000510901,;HPGD,5_prime_UTR_variant,,ENST00000514584,;HPGD,intron_variant,,ENST00000422112,;HPGD,intron_variant,,ENST00000541923,;HPGD,3_prime_UTR_variant,,ENST00000510835,;HPGD,non_coding_transcript_exon_variant,,ENST00000512410,;HPGD,intron_variant,,ENST00000508330,;	709	102	66	SUCCESS
TMPRSS11D	9407	.	GRCh37	4	68691558	68691558	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	124	0	ENST00000283916.6:c.987C>T	p.Val329=	p.V329=	ENST00000283916	NM_004262.2	329	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3518.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTGACCTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF36,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	.	ENSP00000283916	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000283916	Transcript	.	.	ENSG00000153802	24059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM11D_HUMAN	TMPRSS11D	HGNC	Q4W5K4_HUMAN,B4DL57_HUMAN	.	UPI000003FE66	SNV	TMPRSS11D,synonymous_variant,p.%3D,ENST00000514868,;TMPRSS11D,synonymous_variant,p.%3D,ENST00000545541,;TMPRSS11D,synonymous_variant,p.%3D,ENST00000283916,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,downstream_gene_variant,,ENST00000502573,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000505533,;	1086	124	116	SUCCESS
NUP54	53371	.	GRCh37	4	77065333	77065333	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	6	210	1	ENST00000264883.3:c.264A>G	p.Gly88=	p.G88=	ENST00000264883	NM_001278603.1	88	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS3576.1	264	MUTECT|MUSE	.	AATCCTCCAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13000	.	.	ENSP00000264883	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000264883	Transcript	.	.	ENSG00000138750	17359	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUP54_HUMAN	NUP54	HGNC	Q53H29_HUMAN,E7EUM5_HUMAN	.	UPI0000036166	SNV	NUP54,synonymous_variant,p.%3D,ENST00000514901,;NUP54,synonymous_variant,p.%3D,ENST00000264883,;NUP54,5_prime_UTR_variant,,ENST00000342467,;NUP54,5_prime_UTR_variant,,ENST00000458189,;NUP54,intron_variant,,ENST00000514987,;NUP54,non_coding_transcript_exon_variant,,ENST00000506098,;NUP54,non_coding_transcript_exon_variant,,ENST00000508583,;NUP54,non_coding_transcript_exon_variant,,ENST00000515460,;NUP54,non_coding_transcript_exon_variant,,ENST00000510569,;NUP54,non_coding_transcript_exon_variant,,ENST00000514307,;NUP54,downstream_gene_variant,,ENST00000510884,;NUP54,synonymous_variant,p.%3D,ENST00000507257,;NUP54,synonymous_variant,p.%3D,ENST00000512151,;NUP54,3_prime_UTR_variant,,ENST00000502850,;NUP54,intron_variant,,ENST00000504173,;NUP54,downstream_gene_variant,,ENST00000513352,;	405	211	142	SUCCESS
MMRN1	22915	.	GRCh37	4	90816255	90816255	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	17	67	0	ENST00000264790.2:c.133C>A	p.Pro45Thr	p.P45T	ENST00000264790	NM_007351.2	45	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3635.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTCCTCCA	NONE	.	.	.	.	.	ENSP00000378431	.	2/9	.	.	.	.	.	.	.	.	COSM362295	2/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.169)	.	deleterious_low_confidence(0.05)	1	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,missense_variant,p.Pro45Thr,ENST00000394980,;MMRN1,missense_variant,p.Pro45Thr,ENST00000264790,;MMRN1,missense_variant,p.Pro45Thr,ENST00000394981,;	452	67	27	SUCCESS
MMRN1	22915	.	GRCh37	4	90816256	90816256	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755629719	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	17	67	0	ENST00000264790.2:c.134C>A	p.Pro45His	p.P45H	ENST00000264790	NM_007351.2	45	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3635.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCTCCAA	NONE	byFrequency	.	.	.	.	ENSP00000378431	.	2/9	.	.	.	.	.	.	.	.	rs755629719	2/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	deleterious_low_confidence(0.04)	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,missense_variant,p.Pro45His,ENST00000394980,;MMRN1,missense_variant,p.Pro45His,ENST00000264790,;MMRN1,missense_variant,p.Pro45His,ENST00000394981,;	453	67	27	SUCCESS
C5orf52	100190949	.	GRCh37	5	157106849	157106849	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	93	259	0	ENST00000409999.3:c.322G>T	p.Val108Leu	p.V108L	ENST00000409999	NM_001145132.1	108	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS47329.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGGTGAGC	NONE	.	.	.	.	.	ENSP00000387027	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000409999	Transcript	.	.	ENSG00000187658	35121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.27)	.	CE052_HUMAN	C5orf52	HGNC	.	.	UPI00001D7EEB	SNV	C5orf52,missense_variant,p.Val108Leu,ENST00000409999,;AC008694.3,downstream_gene_variant,,ENST00000522076,;	384	259	229	SUCCESS
GRK6	2870	.	GRCh37	5	176859237	176859237	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs747940046	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	15	137	0	ENST00000355472.5:c.265G>C	p.Glu89Gln	p.E89Q	ENST00000355472	NM_002082.3	89	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS47348.1	265	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGAGTAT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF15,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000433511	.	4/16	.	.	.	.	.	.	.	.	rs747940046	4/16	PASS	ENST00000528793	Transcript	.	.	ENSG00000198055	4545	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	.	deleterious(0.03)	.	GRK6_HUMAN	GRK6	HGNC	D6RHC7_HUMAN,D6RDA3_HUMAN,D6R9V4_HUMAN	.	UPI000002AAC9	SNV	GRK6,missense_variant,p.Glu89Gln,ENST00000355472,;GRK6,missense_variant,p.Glu89Gln,ENST00000507633,;GRK6,missense_variant,p.Glu57Gln,ENST00000502598,;GRK6,missense_variant,p.Glu89Gln,ENST00000355958,;GRK6,missense_variant,p.Glu57Gln,ENST00000506296,;GRK6,missense_variant,p.Glu89Gln,ENST00000528793,;GRK6,missense_variant,p.Glu89Gln,ENST00000393576,;GRK6,missense_variant,p.Glu57Gln,ENST00000511244,;GRK6,downstream_gene_variant,,ENST00000512684,;GRK6,missense_variant,p.Glu2Gln,ENST00000508705,;GRK6,non_coding_transcript_exon_variant,,ENST00000515666,;	268	137	120	SUCCESS
GPR98	0	.	GRCh37	5	90000211	90000211	+	synonymous_variant	Silent	SNP	G	G	A	rs778011573	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	13	190	0	ENST00000405460.2:c.8292G>A	p.Ser2764=	p.S2764=	ENST00000405460	NM_032119.3	2764	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47246.1	8292	MUTECT|MUSE	.	GGGTCGTTGAA	NONE	byFrequency	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	36/90	.	.	.	.	.	.	.	.	rs778011573	36/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;GPR98,synonymous_variant,p.%3D,ENST00000509621,;	8388	190	205	SUCCESS
KIF13A	63971	.	GRCh37	6	17764996	17764996	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs184686655	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	70	139	1	ENST00000259711.6:c.4763G>A	p.Arg1588His	p.R1588H	ENST00000259711	NM_022113.5	1588	cGt/cAt	0	T:0.0002	T:0.0008	.	T:0.0014	.	T	R/H	protein_coding	YES	CCDS47381.1	4763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTACGGGAC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0004	ENSP00000259711	T:0	39/39	.	.	.	.	.	.	.	.	rs184686655	39/39	PASS	ENST00000259711	Transcript	.	T:0.0004	ENSG00000137177	14566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	T:0	tolerated_low_confidence(0.07)	.	KI13A_HUMAN	KIF13A	HGNC	.	.	UPI0000E20DA3	SNV	KIF13A,missense_variant,p.Arg1540His,ENST00000378814,;KIF13A,missense_variant,p.Arg1553His,ENST00000378826,;KIF13A,missense_variant,p.Arg592His,ENST00000502297,;KIF13A,missense_variant,p.Arg1588His,ENST00000259711,;KIF13A,missense_variant,p.Arg1553His,ENST00000378816,;KIF13A,missense_variant,p.Arg1540His,ENST00000378843,;	4869	140	192	SUCCESS
DHX16	8449	.	GRCh37	6	30638843	30638843	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	15	131	0	ENST00000376442.3:c.416A>C	p.Glu139Ala	p.E139A	ENST00000376442	NM_001164239.1	139	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS4685.1	416	MUTECT|MUSE|VARSCANS	.	AAGCCTCTTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934	.	.	ENSP00000365625	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated(0.37)	.	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	SNV	DHX16,missense_variant,p.Glu79Ala,ENST00000415603,;DHX16,missense_variant,p.Glu139Ala,ENST00000376442,;	612	131	169	SUCCESS
MDC1	9656	.	GRCh37	6	30672574	30672574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	48	117	0	ENST00000376406.3:c.4386C>A	p.Asp1462Glu	p.D1462E	ENST00000376406	NM_014641.2	1462	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS34384.1	4386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGTCTGT	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	tolerated(0.14)	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,missense_variant,p.Asp1462Glu,ENST00000376406,;MDC1,missense_variant,p.Asp1198Glu,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000492462,;MDC1,upstream_gene_variant,,ENST00000489540,;	5034	117	146	SUCCESS
CCHCR1	54535	.	GRCh37	6	31122536	31122536	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	31	0	ENST00000376266.5:c.271G>T	p.Ala91Ser	p.A91S	ENST00000376266	NM_019052.3	91	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS43445.1	538	SOMATICSNIPER|VARSCANS	.	CTCAGCCTGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161:SF4,hmmpanther:PTHR23161,Pfam_domain:PF07111	.	.	ENSP00000379566	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000396268	Transcript	.	.	ENSG00000204536	13930	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0.01)	.	CCHCR_HUMAN	CCHCR1	HGNC	E9PGB6_HUMAN,E7EQE8_HUMAN,E7EQC5_HUMAN,D6RDI7_HUMAN,D6RD84_HUMAN,D6RBG1_HUMAN,D6RB88_HUMAN,B4DIA2_HUMAN,B0V092_HUMAN,A9XAL3_HUMAN,A9XAG5_HUMAN,A9XAF5_HUMAN,A9XAC7_HUMAN,A2ABH4_HUMAN,A2ABH3_HUMAN	.	UPI0000E5ACDF	SNV	CCHCR1,missense_variant,p.Ala91Ser,ENST00000507751,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000502557,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000448162,;CCHCR1,missense_variant,p.Ala55Ser,ENST00000508683,;CCHCR1,missense_variant,p.Ala180Ser,ENST00000396268,;CCHCR1,missense_variant,p.Ala65Ser,ENST00000513222,;CCHCR1,missense_variant,p.Ala55Ser,ENST00000448141,;CCHCR1,missense_variant,p.Ala189Ser,ENST00000426967,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000503934,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000455279,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000507226,;CCHCR1,missense_variant,p.Ala144Ser,ENST00000451521,;CCHCR1,missense_variant,p.Ala117Ser,ENST00000428174,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000507829,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000396263,;CCHCR1,missense_variant,p.Ala55Ser,ENST00000503420,;CCHCR1,missense_variant,p.Ala91Ser,ENST00000376266,;CCHCR1,downstream_gene_variant,,ENST00000506831,;TCF19,upstream_gene_variant,,ENST00000376255,;CCHCR1,downstream_gene_variant,,ENST00000507892,;TCF19,upstream_gene_variant,,ENST00000376257,;CCHCR1,intron_variant,,ENST00000480060,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000509552,;CCHCR1,intron_variant,,ENST00000505392,;CCHCR1,intron_variant,,ENST00000507459,;CCHCR1,intron_variant,,ENST00000508852,;CCHCR1,intron_variant,,ENST00000512418,;CCHCR1,downstream_gene_variant,,ENST00000475684,;CCHCR1,downstream_gene_variant,,ENST00000488920,;CCHCR1,upstream_gene_variant,,ENST00000464012,;	727	32	31	SUCCESS
DSP	1832	.	GRCh37	6	7580848	7580848	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	72	162	0	ENST00000379802.3:c.4425C>T	p.Thr1475=	p.T1475=	ENST00000379802	NM_004415.2	1475	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4501.1	4425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACCATCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,synonymous_variant,p.%3D,ENST00000379802,;DSP,intron_variant,,ENST00000418664,;	4766	162	207	SUCCESS
SLC26A3	1811	.	GRCh37	7	107423494	107423494	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	58	164	0	ENST00000340010.5:c.1164C>T	p.Phe388=	p.F388=	ENST00000340010	NM_000111.2	388	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS5748.1	1164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGAATAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,TIGRFAM_domain:TIGR00815,Pfam_domain:PF00916	.	.	ENSP00000345873	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000340010	Transcript	.	.	ENSG00000091138	3018	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S26A3_HUMAN	SLC26A3	HGNC	Q75N04_HUMAN,C9JFJ2_HUMAN	.	UPI000000128C	SNV	SLC26A3,synonymous_variant,p.%3D,ENST00000340010,;SLC26A3,synonymous_variant,p.%3D,ENST00000422236,;SLC26A3,3_prime_UTR_variant,,ENST00000379083,;SLC26A3,non_coding_transcript_exon_variant,,ENST00000468551,;	1349	164	150	SUCCESS
KIAA1147	0	.	GRCh37	7	141373871	141373872	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TC	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	49	120	0	ENST00000536163.1:c.675_676dup	p.Met226ArgfsTer2	p.M226Rfs*2	ENST00000536163	NM_001080392.1	226	atg/aGAtg	0	.	.	.	.	.	TC	M/RX	protein_coding	YES	CCDS47726.1	676-677	VARSCANI*|PINDEL	.	CCTTCATCTCA	NONE	.	.	Pfam_domain:PF09804,hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF1	.	.	ENSP00000445768	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000536163	Transcript	.	.	ENSG00000257093	29472	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCHN_HUMAN	KIAA1147	HGNC	.	.	UPI0000251F74	insertion	KIAA1147,frameshift_variant,p.Met135ArgfsTer2,ENST00000482493,;KIAA1147,frameshift_variant,p.Met226ArgfsTer2,ENST00000536163,;	676-677	120	161	SUCCESS
TMEM184A	202915	.	GRCh37	7	1594988	1594988	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs967655708	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	26	43	0	ENST00000297477.5:c.133G>A	p.Ala45Thr	p.A45T	ENST00000297477	NM_001097620.1	45	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43537.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCCCCCT	NONE	.	.	hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20	.	.	ENSP00000297477	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000297477	Transcript	.	.	ENSG00000164855	28797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.43)	.	T184A_HUMAN	TMEM184A	HGNC	C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN	.	UPI000013E413	SNV	TMEM184A,missense_variant,p.Ala45Thr,ENST00000441933,;TMEM184A,missense_variant,p.Ala45Thr,ENST00000431208,;TMEM184A,missense_variant,p.Ala45Thr,ENST00000297477,;TMEM184A,missense_variant,p.Ala45Thr,ENST00000319010,;TMEM184A,missense_variant,p.Ala45Thr,ENST00000414730,;TMEM184A,missense_variant,p.Ala45Thr,ENST00000319018,;TMEM184A,missense_variant,p.Ala45Thr,ENST00000421923,;TMEM184A,non_coding_transcript_exon_variant,,ENST00000474813,;TMEM184A,upstream_gene_variant,,ENST00000468535,;	450	43	48	SUCCESS
STEAP1B	256227	.	GRCh37	7	22532994	22532994	+	synonymous_variant	Silent	SNP	G	G	A	rs571881121	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	16	136	0	ENST00000406890.2:c.489C>T	p.Tyr163=	p.Y163=	ENST00000406890	NM_207342.2	163	taC/taT	0	.	A:0	.	A:0	.	A	Y	protein_coding	YES	CCDS56469.1	546	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCGTAAGA	NONE	by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239:SF3,hmmpanther:PTHR14239,Pfam_domain:PF01794	A:0	.	ENSP00000384370	A:0	3/5	.	.	.	.	.	.	.	.	rs571881121,rs767202150,COSM1450024,COSM1450023	3/5	PASS	ENST00000404369	Transcript	.	A:0.0002	ENSG00000105889	41907	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,0,1,1	.	.	.	A:0.001	.	0,0,1,1	.	STEAP1B	HGNC	C9JL51_HUMAN,C9JE84_HUMAN,B5MCI2_HUMAN	.	UPI000173A267	SNV	STEAP1B,synonymous_variant,p.%3D,ENST00000404369,;STEAP1B,synonymous_variant,p.%3D,ENST00000406890,;STEAP1B,synonymous_variant,p.%3D,ENST00000424363,;STEAP1B,synonymous_variant,p.%3D,ENST00000439708,;STEAP1B,non_coding_transcript_exon_variant,,ENST00000483679,;	962	136	165	SUCCESS
ABCA13	154664	.	GRCh37	7	48567919	48567919	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	61	0	ENST00000435803.1:c.14332G>A	p.Ala4778Thr	p.A4778T	ENST00000435803	NM_152701.3	4778	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47584.1	14332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGCTATC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	55/62	.	.	.	.	.	.	.	.	.	55/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Ala4778Thr,ENST00000435803,;ABCA13,missense_variant,p.Ala508Thr,ENST00000544596,;ABCA13,missense_variant,p.Ala551Thr,ENST00000411975,;ABCA13,missense_variant,p.Ala1044Thr,ENST00000453246,;	14356	61	68	SUCCESS
LRP12	29967	.	GRCh37	8	105510064	105510064	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	32	246	1	ENST00000276654.5:c.716G>A	p.Cys239Tyr	p.C239Y	ENST00000276654	NM_013437.4	239	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS6303.1	716	RADIA|MUTECT|MUSE|VARSCANS	.	CATCACATTTT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000276654	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,missense_variant,p.Cys239Tyr,ENST00000276654,;LRP12,missense_variant,p.Cys220Tyr,ENST00000424843,;LRP12,upstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,upstream_gene_variant,,ENST00000522046,;	825	248	204	SUCCESS
ASAP1	50807	.	GRCh37	8	131181257	131181257	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	83	0	ENST00000518721.1:c.803T>G	p.Leu268Arg	p.L268R	ENST00000518721	NM_001247996.1	268	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS6362.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAGTTTT	NONE	.	.	hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657	.	.	ENSP00000350297	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,missense_variant,p.Leu268Arg,ENST00000518721,;ASAP1,missense_variant,p.Leu86Arg,ENST00000524124,;ASAP1,missense_variant,p.Leu268Arg,ENST00000357668,;ASAP1,missense_variant,p.Leu238Arg,ENST00000524367,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;	831	83	83	SUCCESS
SPATC1	375686	.	GRCh37	8	145095469	145095469	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	6	122	0	ENST00000377470.3:c.767T>C	p.Val256Ala	p.V256A	ENST00000377470	NM_198572.2	256	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6413.2	767	MUTECT|MUSE	.	ACTAGTCCCAC	NONE	.	.	hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16	.	.	ENSP00000366690	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000377470	Transcript	.	.	ENSG00000186583	30510	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.33)	.	SPERI_HUMAN	SPATC1	HGNC	.	.	UPI00001D8243	SNV	SPATC1,missense_variant,p.Val256Ala,ENST00000447830,;SPATC1,missense_variant,p.Val256Ala,ENST00000377470,;	869	122	175	SUCCESS
HOOK3	84376	.	GRCh37	8	42865516	42865516	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	5	164	0	ENST00000307602.4:c.1807C>T	p.Arg603Ter	p.R603*	ENST00000307602	NM_032410.3	603	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS6139.1	1807	MUTECT|MUSE	.	AAGAACGATAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF9,Pfam_domain:PF05622	.	.	ENSP00000305699	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000307602	Transcript	.	.	ENSG00000168172	23576	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HOOK3_HUMAN	HOOK3	HGNC	.	.	UPI000006DD7B	SNV	HOOK3,stop_gained,p.Arg81Ter,ENST00000533539,;HOOK3,stop_gained,p.Arg603Ter,ENST00000307602,;HOOK3,non_coding_transcript_exon_variant,,ENST00000524839,;HOOK3,downstream_gene_variant,,ENST00000526882,;	2007	164	181	SUCCESS
TEX10	54881	.	GRCh37	9	103092435	103092435	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	66	0	ENST00000374902.4:c.1267G>C	p.Val423Leu	p.V423L	ENST00000374902	NM_017746.3	423	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS6748.1	1267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACTGTGC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR16056,hmmpanther:PTHR16056:SF2	.	.	ENSP00000364037	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000374902	Transcript	.	.	ENSG00000136891	25988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.25)	.	TEX10_HUMAN	TEX10	HGNC	.	.	UPI000013D052	SNV	TEX10,missense_variant,p.Val358Leu,ENST00000537512,;TEX10,missense_variant,p.Val68Leu,ENST00000429235,;TEX10,missense_variant,p.Val423Leu,ENST00000374902,;TEX10,missense_variant,p.Val426Leu,ENST00000535814,;	1444	66	60	SUCCESS
GBGT1	26301	.	GRCh37	9	136037820	136037820	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs776217265	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	113	0	ENST00000372040.3:c.-21G>C		p.*7*	ENST00000372040				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6960.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCCTGGG	NONE	.	.	.	.	.	ENSP00000361110	.	2/7	.	.	.	.	.	.	.	.	rs776217265	2/7	PASS	ENST00000372040	Transcript	.	.	ENSG00000148288	20460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBGT1_HUMAN	GBGT1	HGNC	J7Q0Z1_HUMAN,J7PW20_HUMAN	.	UPI000013DB02	SNV	GBGT1,5_prime_UTR_variant,,ENST00000372040,;GBGT1,5_prime_UTR_variant,,ENST00000372038,;GBGT1,5_prime_UTR_variant,,ENST00000540636,;GBGT1,5_prime_UTR_variant,,ENST00000372036,;RALGDS,5_prime_UTR_variant,,ENST00000542690,;GBGT1,5_prime_UTR_variant,,ENST00000372043,;GBGT1,non_coding_transcript_exon_variant,,ENST00000487864,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;	292	113	80	SUCCESS
BCORL1	63035	.	GRCh37	X	129147853	129147853	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	27	0	ENST00000218147.7:c.1105A>G	p.Thr369Ala	p.T369A	ENST00000218147		369	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14616.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTACCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,missense_variant,p.Thr369Ala,ENST00000540052,;BCORL1,missense_variant,p.Thr369Ala,ENST00000303743,;BCORL1,missense_variant,p.Thr369Ala,ENST00000218147,;BCORL1,missense_variant,p.Thr369Ala,ENST00000359304,;BCORL1,upstream_gene_variant,,ENST00000456822,;BCORL1,upstream_gene_variant,,ENST00000441294,;BCORL1,downstream_gene_variant,,ENST00000488135,;	1149	27	19	SUCCESS
BCORL1	63035	.	GRCh37	X	129162763	129162763	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	80	181	0	ENST00000218147.7:c.4232A>T	p.Glu1411Val	p.E1411V	ENST00000218147		1411	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS14616.1	4232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAAAATT	NONE	.	.	hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,missense_variant,p.Glu1011Val,ENST00000456822,;BCORL1,missense_variant,p.Glu1411Val,ENST00000540052,;BCORL1,missense_variant,p.Glu1411Val,ENST00000303743,;BCORL1,missense_variant,p.Glu717Val,ENST00000441294,;BCORL1,missense_variant,p.Glu1411Val,ENST00000218147,;BCORL1,missense_variant,p.Glu1281Val,ENST00000359304,;	4276	181	155	SUCCESS
ZNF449	203523	.	GRCh37	X	134480993	134480993	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs782242334	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	47	0	ENST00000339249.4:c.-51G>A		p.*17*	ENST00000339249	NM_152695.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14649.1	.	MUTECT|MUSE	.	AGTCGGAATCT	NONE	byFrequency	.	.	.	.	ENSP00000339585	.	2/5	.	.	.	.	.	.	.	.	rs782242334	2/5	PASS	ENST00000339249	Transcript	.	.	ENSG00000173275	21039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN449_HUMAN	ZNF449	HGNC	Q7Z3P1_HUMAN	.	UPI000013F1DE	SNV	ZNF449,5_prime_UTR_variant,,ENST00000370760,;ZNF449,5_prime_UTR_variant,,ENST00000339249,;ZNF449,5_prime_UTR_variant,,ENST00000370761,;ZNF75D,upstream_gene_variant,,ENST00000370766,;ZNF75D,upstream_gene_variant,,ENST00000494295,;	90	47	32	SUCCESS
BMS1	9790	.	GRCh37	10	43312791	43312791	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	56	1	ENST00000374518.5:c.2429A>C	p.Lys810Thr	p.K810T	ENST00000374518	NM_014753.3	810	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS7199.1	2429	MUTECT|SOMATICSNIPER|VARSCANS	.	AGTTAAGGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858	.	.	ENSP00000363642	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000374518	Transcript	1	.	ENSG00000165733	23505	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	tolerated(0.16)	.	BMS1_HUMAN	BMS1	HGNC	.	.	UPI0000126A3E	SNV	BMS1,missense_variant,p.Lys810Thr,ENST00000374518,;	2492	57	46	SUCCESS
RAB39A	54734	.	GRCh37	11	107799388	107799388	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	13	0	ENST00000320578.2:c.94C>T	p.Arg32Cys	p.R32C	ENST00000320578	NM_017516.1	32	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS8338.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AGGGCCGCTTC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF312,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540	.	.	ENSP00000322594	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000320578	Transcript	.	.	ENSG00000179331	16521	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.08)	.	RB39A_HUMAN	RAB39A	HGNC	.	.	UPI000006FF11	SNV	RAB39A,missense_variant,p.Arg32Cys,ENST00000320578,;SLC35F2,upstream_gene_variant,,ENST00000429869,;SLC35F2,upstream_gene_variant,,ENST00000525071,;	160	13	16	SUCCESS
MUC5AC	4586	.	GRCh37	11	1155691	1155691	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	87	0	ENST00000534821.1:c.379G>T	p.Glu127Ter	p.E127*	ENST00000534821		127	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	.	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGAGTCA	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF248,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000435591	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000534821	Transcript	.	.	ENSG00000215182	7515	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC5AC	HGNC	Q7LDT3_HUMAN,E9PJ98_HUMAN	.	UPI0000456454	SNV	MUC5AC,stop_gained,p.Glu127Ter,ENST00000534821,;MUC5AC,missense_variant,p.Gly126Val,ENST00000356191,;	426	87	116	SUCCESS
APOA4	337	.	GRCh37	11	116693445	116693445	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	35	89	0	ENST00000357780.3:c.106A>G	p.Ser36Gly	p.S36G	ENST00000357780	NM_000482.3	36	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS31681.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTGAAGT	NONE	.	.	Gene3D:1.20.120.20,hmmpanther:PTHR18976,hmmpanther:PTHR18976:SF1	.	.	ENSP00000350425	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000357780	Transcript	.	.	ENSG00000110244	602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0.01)	.	APOA4_HUMAN	APOA4	HGNC	.	.	UPI00001AE660	SNV	APOA4,missense_variant,p.Ser36Gly,ENST00000357780,;	221	89	110	SUCCESS
MRGPRX1	259249	.	GRCh37	11	18955438	18955438	+	synonymous_variant	Silent	SNP	C	C	A	rs374955450	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	64	0	ENST00000302797.3:c.894G>T	p.Ala298=	p.A298=	ENST00000302797	NM_147199.3	298	gcG/gcT	0	T:0	.	.	.	.	A	A	protein_coding	YES	CCDS7846.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACGCGTC	BUFFER|p.D297D|c.891C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF22,Prints_domain:PR02108	.	T:0.0001	ENSP00000305766	.	1/1	.	.	.	.	.	.	.	.	rs374955450	1/1	PASS	ENST00000302797	Transcript	.	.	ENSG00000170255	17962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRGX1_HUMAN	MRGPRX1	HGNC	.	.	UPI000003BCCF	SNV	MRGPRX1,synonymous_variant,p.%3D,ENST00000302797,;RP11-583F24.8,upstream_gene_variant,,ENST00000528646,;MRGPRX1,downstream_gene_variant,,ENST00000526914,;	1119	64	85	SUCCESS
NELL1	4745	.	GRCh37	11	20699518	20699518	+	synonymous_variant	Silent	SNP	C	C	A	rs146112225	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	67	163	0	ENST00000357134.5:c.96C>A	p.Ile32=	p.I32=	ENST00000357134	NM_201551.1	32	atC/atA	0	T:0.0002	.	.	.	.	A	I	protein_coding	YES	CCDS7855.1	96	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATCGTCAC	NONE	byCluster	.	hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	T:0	ENSP00000349654	.	2/20	.	.	.	.	.	.	.	.	rs146112225	2/20	PASS	ENST00000357134	Transcript	.	.	ENSG00000165973	7750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELL1_HUMAN	NELL1	HGNC	K9UUD5_HUMAN	.	UPI000013E53D	SNV	NELL1,synonymous_variant,p.%3D,ENST00000325319,;NELL1,synonymous_variant,p.%3D,ENST00000357134,;NELL1,synonymous_variant,p.%3D,ENST00000298925,;NELL1,synonymous_variant,p.%3D,ENST00000532434,;	248	163	204	SUCCESS
OR5W2	390148	.	GRCh37	11	55681596	55681596	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	73	0	ENST00000344514.1:c.463G>A	p.Asp155Asn	p.D155N	ENST00000344514	NM_001001960.1	155	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31513.1	463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCTGCTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF58,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342448	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344514	Transcript	.	.	ENSG00000187612	15299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.19)	.	OR5W2_HUMAN	OR5W2	HGNC	.	.	UPI0000061E8D	SNV	OR5W2,missense_variant,p.Asp155Asn,ENST00000344514,;	463	73	77	SUCCESS
NLRP14	338323	.	GRCh37	11	7064361	7064361	+	synonymous_variant	Silent	SNP	C	C	G	rs751702909	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	73	0	ENST00000299481.4:c.1104C>G	p.Val368=	p.V368=	ENST00000299481	NM_176822.3	368	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS7776.1	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCCCCT	NONE	byFrequency	.	hmmpanther:PTHR24106:SF82,hmmpanther:PTHR24106,PROSITE_profiles:PS50837	.	.	ENSP00000299481	.	4/12	.	.	.	.	.	.	.	.	rs751702909	4/12	PASS	ENST00000299481	Transcript	.	.	ENSG00000158077	22939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL14_HUMAN	NLRP14	HGNC	.	.	UPI0000167F6E	SNV	NLRP14,synonymous_variant,p.%3D,ENST00000299481,;	1450	73	98	SUCCESS
ENDOD1	23052	.	GRCh37	11	94861677	94861677	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	76	242	0	ENST00000278505.4:c.437C>G	p.Pro146Arg	p.P146R	ENST00000278505	NM_015036.2	146	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS41699.1	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCATTCT	NONE	.	.	Superfamily_domains:SSF54060,SMART_domains:SM00892,SMART_domains:SM00477,Pfam_domain:PF01223,Gene3D:1g8tA00,hmmpanther:PTHR21472:SF8,hmmpanther:PTHR21472	.	.	ENSP00000278505	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000278505	Transcript	.	.	ENSG00000149218	29129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ENDD1_HUMAN	ENDOD1	HGNC	.	.	UPI0000071599	SNV	ENDOD1,missense_variant,p.Pro146Arg,ENST00000278505,;	555	242	236	SUCCESS
TAOK3	51347	.	GRCh37	12	118639243	118639243	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	72	0	ENST00000392533.3:c.845C>T	p.Pro282Leu	p.P282L	ENST00000392533	NM_016281.3	282	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9188.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTGGCCGG	NONE	.	.	hmmpanther:PTHR24361:SF187,hmmpanther:PTHR24361	.	.	ENSP00000376317	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000392533	Transcript	.	.	ENSG00000135090	18133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.1)	.	TAOK3_HUMAN	TAOK3	HGNC	G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN	.	UPI000007231B	SNV	TAOK3,missense_variant,p.Pro282Leu,ENST00000392533,;TAOK3,missense_variant,p.Pro180Leu,ENST00000538601,;TAOK3,missense_variant,p.Pro282Leu,ENST00000419821,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;TAOK3,non_coding_transcript_exon_variant,,ENST00000536584,;	1336	72	97	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1993990	1993990	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375148197	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	38	157	0	ENST00000382722.5:c.1216G>T	p.Gly406Cys	p.G406C	ENST00000382722	NM_172364.4	406	Ggc/Tgc	0	T:0.0002	.	.	.	.	A	G/C	protein_coding	YES	CCDS44785.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCCGTCGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	T:0	ENSP00000372169	.	11/38	.	.	.	.	.	.	.	.	rs375148197	11/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Gly322Cys,ENST00000585732,;CACNA2D4,missense_variant,p.Gly406Cys,ENST00000587995,;CACNA2D4,missense_variant,p.Gly406Cys,ENST00000586184,;CACNA2D4,missense_variant,p.Gly406Cys,ENST00000382722,;CACNA2D4,missense_variant,p.Gly342Cys,ENST00000588077,;CACNA2D4,missense_variant,p.Gly342Cys,ENST00000585708,;CACNA2D4,missense_variant,p.Gly406Cys,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000590880,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	1579	157	153	SUCCESS
SMARCC2	6601	.	GRCh37	12	56563945	56563945	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	65	0	ENST00000267064.4:c.2302G>A	p.Glu768Lys	p.E768K	ENST00000267064	NM_003075.3	768	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8907.1	2302	MUTECT|MUSE	.	CTTCTCATCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12802:SF38,hmmpanther:PTHR12802	.	.	ENSP00000267064	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.292)	.	tolerated(0.22)	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	SNV	SMARCC2,missense_variant,p.Glu768Lys,ENST00000267064,;SMARCC2,missense_variant,p.Glu799Lys,ENST00000550164,;SMARCC2,missense_variant,p.Glu799Lys,ENST00000394023,;SMARCC2,missense_variant,p.Glu799Lys,ENST00000347471,;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,downstream_gene_variant,,ENST00000549209,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,downstream_gene_variant,,ENST00000552566,;SMARCC2,downstream_gene_variant,,ENST00000548130,;SMARCC2,downstream_gene_variant,,ENST00000552931,;	2389	65	49	SUCCESS
PTPRB	5787	.	GRCh37	12	70986132	70986132	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	104	0	ENST00000261266.5:c.1056A>G	p.Arg352=	p.R352=	ENST00000261266	NM_002837.4	352	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS44943.1	1710	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTCGACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	1755	104	84	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111932983	111932983	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	112	0	ENST00000375741.2:c.1747G>A	p.Gly583Arg	p.G583R	ENST00000375741	NM_145735.2	583	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS45068.1	1747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGGAAAC	NONE	.	.	hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826	.	.	ENSP00000364893	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.27)	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,missense_variant,p.Gly405Arg,ENST00000466143,;ARHGEF7,missense_variant,p.Gly405Arg,ENST00000375736,;ARHGEF7,missense_variant,p.Gly480Arg,ENST00000375737,;ARHGEF7,missense_variant,p.Gly327Arg,ENST00000478679,;ARHGEF7,missense_variant,p.Gly405Arg,ENST00000218789,;ARHGEF7,missense_variant,p.Gly533Arg,ENST00000375739,;ARHGEF7,missense_variant,p.Gly405Arg,ENST00000375723,;ARHGEF7,missense_variant,p.Gly405Arg,ENST00000426073,;ARHGEF7,missense_variant,p.Gly583Arg,ENST00000375741,;ARHGEF7,missense_variant,p.Gly562Arg,ENST00000317133,;ARHGEF7,missense_variant,p.Gly490Arg,ENST00000370623,;ARHGEF7,3_prime_UTR_variant,,ENST00000544132,;ARHGEF7,downstream_gene_variant,,ENST00000483189,;ARHGEF7,upstream_gene_variant,,ENST00000491688,;ARHGEF7,3_prime_UTR_variant,,ENST00000469877,;	1997	112	105	SUCCESS
NBEA	26960	.	GRCh37	13	35692392	35692392	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	103	0	ENST00000400445.3:c.2110C>T	p.Gln704Ter	p.Q704*	ENST00000400445	NM_015678.4	704	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS45026.1	2110	RADIA|MUTECT|MUSE	.	AACTTCAGAGT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	15/58	.	.	.	.	.	.	.	.	.	15/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,stop_gained,p.Gln704Ter,ENST00000400445,;NBEA,stop_gained,p.Gln704Ter,ENST00000540320,;NBEA,stop_gained,p.Gln704Ter,ENST00000310336,;NBEA,stop_gained,p.Gln704Ter,ENST00000379939,;	2644	103	49	SUCCESS
NBEA	26960	.	GRCh37	13	35692394	35692394	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs796881918	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	105	0	ENST00000400445.3:c.2112G>C	p.Gln704His	p.Q704H	ENST00000400445	NM_015678.4	704	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS45026.1	2112	RADIA|MUTECT|MUSE	.	CTTCAGAGTAT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	15/58	.	.	.	.	.	.	.	.	rs376099257	15/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Gln704His,ENST00000400445,;NBEA,missense_variant,p.Gln704His,ENST00000540320,;NBEA,missense_variant,p.Gln704His,ENST00000310336,;NBEA,missense_variant,p.Gln704His,ENST00000379939,;	2646	105	50	SUCCESS
NBEA	26960	.	GRCh37	13	35734090	35734090	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	36	0	ENST00000400445.3:c.3782T>G	p.Ile1261Ser	p.I1261S	ENST00000400445	NM_015678.4	1261	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS45026.1	3782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATTTCAG	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	22/58	.	.	.	.	.	.	.	.	.	22/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.12)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Ile1261Ser,ENST00000400445,;NBEA,missense_variant,p.Ile1261Ser,ENST00000540320,;NBEA,missense_variant,p.Ile1261Ser,ENST00000310336,;NBEA,missense_variant,p.Ile1261Ser,ENST00000379939,;	4316	36	57	SUCCESS
SMIM2	79024	.	GRCh37	13	44734968	44734968	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1229376312	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	59	0	ENST00000400419.1:c.24T>G	p.Asp8Glu	p.D8E	ENST00000400419	NM_024058.2	8	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS61320.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCATCAAT	NONE	.	.	.	.	.	ENSP00000383270	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000400419	Transcript	.	.	ENSG00000139656	28776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	tolerated_low_confidence(0.28)	.	SMIM2_HUMAN	SMIM2	HGNC	.	.	UPI0000072952	SNV	SMIM2,missense_variant,p.Asp8Glu,ENST00000400419,;SMIM2-AS1,intron_variant,,ENST00000437867,;SMIM2-IT1,upstream_gene_variant,,ENST00000415082,;	213	59	49	SUCCESS
ZNF839	55778	.	GRCh37	14	102792471	102792471	+	synonymous_variant	Silent	SNP	C	C	T	rs1159890435	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	84	0	ENST00000558850.1:c.90C>T	p.Ala30=	p.A30=	ENST00000558850	NM_001267827.1	30	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45164.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCCAGCCC	NONE	.	.	hmmpanther:PTHR16116	.	.	ENSP00000399863	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000442396	Transcript	.	.	ENSG00000022976	20345	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN839_HUMAN	ZNF839	HGNC	H0YKY1_HUMAN,B3KWS2_HUMAN	.	UPI0001596890	SNV	ZNF839,synonymous_variant,p.%3D,ENST00000442396,;ZNF839,synonymous_variant,p.%3D,ENST00000558850,;ZNF839,synonymous_variant,p.%3D,ENST00000262236,;ZNF839,synonymous_variant,p.%3D,ENST00000559185,;ZNF839,upstream_gene_variant,,ENST00000561251,;ZNF839,synonymous_variant,p.%3D,ENST00000559098,;	453	84	55	SUCCESS
IGHD	3495	.	GRCh37	14	106307358	106307358	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	28	0	ENST00000390556.2:c.681C>T	p.Ser227=	p.S227=	ENST00000390556		227	tcC/tcT	0	.	.	.	.	.	A	S	IG_C_gene	YES	.	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGGAGCC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374998	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000390556	Transcript	.	.	ENSG00000211898	5480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHD	HGNC	.	.	UPI000173A6A0	SNV	IGHD,synonymous_variant,p.%3D,ENST00000390556,;	680	28	37	SUCCESS
NDRG2	57447	.	GRCh37	14	21487891	21487891	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	68	0	ENST00000298687.5:c.623C>A	p.Ser208Tyr	p.S208Y	ENST00000298687	NM_201535.1	208	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS9565.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGAGAGC	NONE	.	.	hmmpanther:PTHR11034:SF17,hmmpanther:PTHR11034,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474	.	.	ENSP00000451712	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000556147	Transcript	.	.	ENSG00000165795	14460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.239)	.	tolerated(0.12)	.	NDRG2_HUMAN	NDRG2	HGNC	G3V5S0_HUMAN,G3V5P9_HUMAN,G3V5L7_HUMAN,G3V5B5_HUMAN,G3V578_HUMAN,G3V552_HUMAN,G3V4T9_HUMAN,G3V3P1_HUMAN,G3V3D5_HUMAN,G3V383_HUMAN,G3V358_HUMAN,G3V2T2_HUMAN,G3V2S0_HUMAN,G3V2I9_HUMAN	.	UPI000012FEDE	SNV	NDRG2,missense_variant,p.Ser194Tyr,ENST00000350792,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000555158,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000556008,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000555733,;NDRG2,missense_variant,p.Ser121Tyr,ENST00000556366,;NDRG2,missense_variant,p.Ser153Tyr,ENST00000557182,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000554143,;NDRG2,missense_variant,p.Ser146Tyr,ENST00000449431,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000397856,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000555869,;NDRG2,missense_variant,p.Ser165Tyr,ENST00000397855,;NDRG2,missense_variant,p.Ser165Tyr,ENST00000298684,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000556147,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000298687,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000397858,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000397847,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000553867,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000397851,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000557169,;NDRG2,missense_variant,p.Ser124Tyr,ENST00000553593,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000555026,;NDRG2,missense_variant,p.Ser204Tyr,ENST00000403829,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000553503,;NDRG2,missense_variant,p.Ser208Tyr,ENST00000397853,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000397844,;NDRG2,missense_variant,p.Ser121Tyr,ENST00000554104,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000556974,;NDRG2,missense_variant,p.Ser194Tyr,ENST00000360463,;NDRG2,intron_variant,,ENST00000557633,;NDRG2,downstream_gene_variant,,ENST00000554489,;NDRG2,downstream_gene_variant,,ENST00000554561,;NDRG2,downstream_gene_variant,,ENST00000556329,;NDRG2,downstream_gene_variant,,ENST00000554483,;NDRG2,downstream_gene_variant,,ENST00000557274,;NDRG2,downstream_gene_variant,,ENST00000554472,;NDRG2,downstream_gene_variant,,ENST00000554415,;NDRG2,downstream_gene_variant,,ENST00000556561,;NDRG2,downstream_gene_variant,,ENST00000556688,;NDRG2,downstream_gene_variant,,ENST00000555142,;NDRG2,downstream_gene_variant,,ENST00000557264,;NDRG2,downstream_gene_variant,,ENST00000555384,;NDRG2,downstream_gene_variant,,ENST00000556457,;NDRG2,downstream_gene_variant,,ENST00000553442,;NDRG2,downstream_gene_variant,,ENST00000554833,;NDRG2,downstream_gene_variant,,ENST00000556924,;NDRG2,downstream_gene_variant,,ENST00000554398,;NDRG2,downstream_gene_variant,,ENST00000553563,;NDRG2,downstream_gene_variant,,ENST00000557149,;NDRG2,downstream_gene_variant,,ENST00000556420,;NDRG2,downstream_gene_variant,,ENST00000555657,;NDRG2,downstream_gene_variant,,ENST00000554893,;NDRG2,downstream_gene_variant,,ENST00000557676,;NDRG2,downstream_gene_variant,,ENST00000553784,;NDRG2,downstream_gene_variant,,ENST00000554531,;NDRG2,downstream_gene_variant,,ENST00000554419,;NDRG2,downstream_gene_variant,,ENST00000554094,;AL161668.5,upstream_gene_variant,,ENST00000532213,;AL161668.5,upstream_gene_variant,,ENST00000533984,;NDRG2,non_coding_transcript_exon_variant,,ENST00000554277,;NDRG2,3_prime_UTR_variant,,ENST00000557353,;NDRG2,3_prime_UTR_variant,,ENST00000555695,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553793,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557416,;NDRG2,non_coding_transcript_exon_variant,,ENST00000556716,;TPPP2,upstream_gene_variant,,ENST00000533755,;NDRG2,downstream_gene_variant,,ENST00000557167,;NDRG2,upstream_gene_variant,,ENST00000555650,;NDRG2,downstream_gene_variant,,ENST00000557616,;NDRG2,downstream_gene_variant,,ENST00000554379,;NDRG2,downstream_gene_variant,,ENST00000557669,;NDRG2,downstream_gene_variant,,ENST00000366204,;NDRG2,downstream_gene_variant,,ENST00000557113,;NDRG2,downstream_gene_variant,,ENST00000557198,;NDRG2,downstream_gene_variant,,ENST00000557728,;NDRG2,downstream_gene_variant,,ENST00000555767,;NDRG2,downstream_gene_variant,,ENST00000553567,;NDRG2,downstream_gene_variant,,ENST00000553741,;NDRG2,downstream_gene_variant,,ENST00000553862,;NDRG2,downstream_gene_variant,,ENST00000553900,;NDRG2,downstream_gene_variant,,ENST00000557318,;NDRG2,downstream_gene_variant,,ENST00000557305,;	1564	68	81	SUCCESS
NDRG2	57447	.	GRCh37	14	21487892	21487892	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	67	0	ENST00000298687.5:c.622T>C	p.Ser208Pro	p.S208P	ENST00000298687	NM_201535.1	208	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS9565.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAGAGCT	NONE	.	.	hmmpanther:PTHR11034:SF17,hmmpanther:PTHR11034,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474	.	.	ENSP00000451712	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000556147	Transcript	.	.	ENSG00000165795	14460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	tolerated(0.22)	.	NDRG2_HUMAN	NDRG2	HGNC	G3V5S0_HUMAN,G3V5P9_HUMAN,G3V5L7_HUMAN,G3V5B5_HUMAN,G3V578_HUMAN,G3V552_HUMAN,G3V4T9_HUMAN,G3V3P1_HUMAN,G3V3D5_HUMAN,G3V383_HUMAN,G3V358_HUMAN,G3V2T2_HUMAN,G3V2S0_HUMAN,G3V2I9_HUMAN	.	UPI000012FEDE	SNV	NDRG2,missense_variant,p.Ser194Pro,ENST00000350792,;NDRG2,missense_variant,p.Ser194Pro,ENST00000555158,;NDRG2,missense_variant,p.Ser194Pro,ENST00000556008,;NDRG2,missense_variant,p.Ser208Pro,ENST00000555733,;NDRG2,missense_variant,p.Ser121Pro,ENST00000556366,;NDRG2,missense_variant,p.Ser153Pro,ENST00000557182,;NDRG2,missense_variant,p.Ser194Pro,ENST00000554143,;NDRG2,missense_variant,p.Ser146Pro,ENST00000449431,;NDRG2,missense_variant,p.Ser194Pro,ENST00000397856,;NDRG2,missense_variant,p.Ser194Pro,ENST00000555869,;NDRG2,missense_variant,p.Ser165Pro,ENST00000397855,;NDRG2,missense_variant,p.Ser165Pro,ENST00000298684,;NDRG2,missense_variant,p.Ser208Pro,ENST00000556147,;NDRG2,missense_variant,p.Ser208Pro,ENST00000298687,;NDRG2,missense_variant,p.Ser208Pro,ENST00000397858,;NDRG2,missense_variant,p.Ser208Pro,ENST00000397847,;NDRG2,missense_variant,p.Ser208Pro,ENST00000553867,;NDRG2,missense_variant,p.Ser208Pro,ENST00000397851,;NDRG2,missense_variant,p.Ser194Pro,ENST00000557169,;NDRG2,missense_variant,p.Ser124Pro,ENST00000553593,;NDRG2,missense_variant,p.Ser194Pro,ENST00000555026,;NDRG2,missense_variant,p.Ser204Pro,ENST00000403829,;NDRG2,missense_variant,p.Ser194Pro,ENST00000553503,;NDRG2,missense_variant,p.Ser208Pro,ENST00000397853,;NDRG2,missense_variant,p.Ser194Pro,ENST00000397844,;NDRG2,missense_variant,p.Ser121Pro,ENST00000554104,;NDRG2,missense_variant,p.Ser194Pro,ENST00000556974,;NDRG2,missense_variant,p.Ser194Pro,ENST00000360463,;NDRG2,intron_variant,,ENST00000557633,;NDRG2,downstream_gene_variant,,ENST00000554489,;NDRG2,downstream_gene_variant,,ENST00000554561,;NDRG2,downstream_gene_variant,,ENST00000556329,;NDRG2,downstream_gene_variant,,ENST00000554483,;NDRG2,downstream_gene_variant,,ENST00000557274,;NDRG2,downstream_gene_variant,,ENST00000554472,;NDRG2,downstream_gene_variant,,ENST00000554415,;NDRG2,downstream_gene_variant,,ENST00000556561,;NDRG2,downstream_gene_variant,,ENST00000556688,;NDRG2,downstream_gene_variant,,ENST00000555142,;NDRG2,downstream_gene_variant,,ENST00000557264,;NDRG2,downstream_gene_variant,,ENST00000555384,;NDRG2,downstream_gene_variant,,ENST00000556457,;NDRG2,downstream_gene_variant,,ENST00000553442,;NDRG2,downstream_gene_variant,,ENST00000554833,;NDRG2,downstream_gene_variant,,ENST00000556924,;NDRG2,downstream_gene_variant,,ENST00000554398,;NDRG2,downstream_gene_variant,,ENST00000553563,;NDRG2,downstream_gene_variant,,ENST00000557149,;NDRG2,downstream_gene_variant,,ENST00000556420,;NDRG2,downstream_gene_variant,,ENST00000555657,;NDRG2,downstream_gene_variant,,ENST00000554893,;NDRG2,downstream_gene_variant,,ENST00000557676,;NDRG2,downstream_gene_variant,,ENST00000553784,;NDRG2,downstream_gene_variant,,ENST00000554531,;NDRG2,downstream_gene_variant,,ENST00000554419,;NDRG2,downstream_gene_variant,,ENST00000554094,;AL161668.5,upstream_gene_variant,,ENST00000532213,;AL161668.5,upstream_gene_variant,,ENST00000533984,;NDRG2,non_coding_transcript_exon_variant,,ENST00000554277,;NDRG2,3_prime_UTR_variant,,ENST00000557353,;NDRG2,3_prime_UTR_variant,,ENST00000555695,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553793,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557416,;NDRG2,non_coding_transcript_exon_variant,,ENST00000556716,;TPPP2,upstream_gene_variant,,ENST00000533755,;NDRG2,downstream_gene_variant,,ENST00000557167,;NDRG2,upstream_gene_variant,,ENST00000555650,;NDRG2,downstream_gene_variant,,ENST00000557616,;NDRG2,downstream_gene_variant,,ENST00000554379,;NDRG2,downstream_gene_variant,,ENST00000557669,;NDRG2,downstream_gene_variant,,ENST00000366204,;NDRG2,downstream_gene_variant,,ENST00000557113,;NDRG2,downstream_gene_variant,,ENST00000557198,;NDRG2,downstream_gene_variant,,ENST00000557728,;NDRG2,downstream_gene_variant,,ENST00000555767,;NDRG2,downstream_gene_variant,,ENST00000553567,;NDRG2,downstream_gene_variant,,ENST00000553741,;NDRG2,downstream_gene_variant,,ENST00000553862,;NDRG2,downstream_gene_variant,,ENST00000553900,;NDRG2,downstream_gene_variant,,ENST00000557318,;NDRG2,downstream_gene_variant,,ENST00000557305,;	1563	67	81	SUCCESS
SYNE2	23224	.	GRCh37	14	64554464	64554464	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	97	0	ENST00000344113.4:c.11560A>C	p.Ile3854Leu	p.I3854L	ENST00000344113	NM_015180.4	3854	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS9761.2	11560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATAATTTTT	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	58/116	.	.	.	.	.	.	.	.	.	58/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Ile3887Leu,ENST00000554584,;SYNE2,missense_variant,p.Ile239Leu,ENST00000394768,;SYNE2,missense_variant,p.Ile3854Leu,ENST00000344113,;SYNE2,missense_variant,p.Ile239Leu,ENST00000357395,;SYNE2,missense_variant,p.Ile3854Leu,ENST00000358025,;SYNE2,missense_variant,p.Ile488Leu,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557060,;	11790	97	100	SUCCESS
ZFP36L1	677	.	GRCh37	14	69259685	69259685	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	42	0	ENST00000336440.3:c.-30C>T		p.*10*	ENST00000336440				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9791.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGGATCTG	NONE	.	.	.	.	.	ENSP00000388402	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,missense_variant,p.Pro60Ser,ENST00000553375,;ZFP36L1,5_prime_UTR_variant,,ENST00000336440,;ZFP36L1,5_prime_UTR_variant,,ENST00000439696,;ZFP36L1,intron_variant,,ENST00000557022,;ZFP36L1,intron_variant,,ENST00000557086,;ZFP36L1,downstream_gene_variant,,ENST00000408913,;ZFP36L1,upstream_gene_variant,,ENST00000555997,;	273	42	25	SUCCESS
EML5	161436	.	GRCh37	14	89206879	89206879	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763457989	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	111	0	ENST00000380664.5:c.563G>A	p.Arg188Gln	p.R188Q	ENST00000380664		188	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45148.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCGTTTT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	5/44	.	.	.	.	.	.	.	.	rs763457989,COSM3498591,COSM3498592	5/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.884)	.	deleterious(0.01)	0,1,1	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Arg188Gln,ENST00000352093,;EML5,missense_variant,p.Arg188Gln,ENST00000554922,;EML5,missense_variant,p.Arg188Gln,ENST00000380664,;	812	111	114	SUCCESS
MKRN3	7681	.	GRCh37	15	23812394	23812394	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	35	115	0	ENST00000314520.3:c.1465G>T	p.Glu489Ter	p.E489*	ENST00000314520	NM_005664.3	489	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10013.1	1465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGAGGAC	NONE	.	.	hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	COSM699491	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,stop_gained,p.Glu489Ter,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	1941	115	108	SUCCESS
DMXL2	23312	.	GRCh37	15	51756896	51756896	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	109	0	ENST00000251076.5:c.7781T>G	p.Leu2594Arg	p.L2594R	ENST00000251076	NM_015263.3	2594	cTa/cGa	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS53946.1	7784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTAGCATT	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	32/43	.	.	.	.	.	.	.	.	.	32/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,missense_variant,p.Leu1958Arg,ENST00000449909,;DMXL2,missense_variant,p.Leu2595Arg,ENST00000543779,;DMXL2,missense_variant,p.Leu720Arg,ENST00000560891,;DMXL2,missense_variant,p.Leu2594Arg,ENST00000251076,;RP11-707P17.1,intron_variant,,ENST00000561007,;RP11-707P17.2,downstream_gene_variant,,ENST00000560727,;RP11-707P17.2,downstream_gene_variant,,ENST00000559173,;RP11-707P17.2,downstream_gene_variant,,ENST00000559977,;DMXL2,upstream_gene_variant,,ENST00000558124,;DMXL2,non_coding_transcript_exon_variant,,ENST00000561079,;DMXL2,intron_variant,,ENST00000559498,;	7874	109	58	SUCCESS
PEAK1	79834	.	GRCh37	15	77471864	77471864	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	117	0	ENST00000312493.4:c.2405A>G	p.Asp802Gly	p.D802G	ENST00000312493	NM_024776.3	802	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS42062.1	2405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATCTGGA	NONE	.	.	hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5	.	.	ENSP00000452796	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.02)	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,missense_variant,p.Asp802Gly,ENST00000560626,;PEAK1,missense_variant,p.Asp802Gly,ENST00000558305,;PEAK1,missense_variant,p.Asp802Gly,ENST00000312493,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,downstream_gene_variant,,ENST00000564328,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,non_coding_transcript_exon_variant,,ENST00000560854,;	2881	117	79	SUCCESS
RASGRF1	5923	.	GRCh37	15	79382797	79382799	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	84	0	ENST00000419573.3:c.42_44del	p.Leu15del	p.L15del	ENST00000419573	NM_002891.4	14	tcCCTg/tcg	0	.	.	.	.	.	-	SL/S	protein_coding	YES	CCDS10309.1	42-44	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCCCAGGGACGC	NONE	.	.	hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113	.	.	ENSP00000405963	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	deletion	RASGRF1,inframe_deletion,p.Leu15del,ENST00000558480,;RASGRF1,inframe_deletion,p.Leu15del,ENST00000419573,;	317-319	84	43	SUCCESS
BAIAP3	8938	.	GRCh37	16	1384728	1384728	+	synonymous_variant	Silent	SNP	C	C	A	rs1305481572	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	87	0	ENST00000324385.5:c.66C>A	p.Ile22=	p.I22=	ENST00000324385	NM_003933.4	22	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10434.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGGCTT	NONE	.	.	.	.	.	ENSP00000324510	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000324385	Transcript	.	.	ENSG00000007516	948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAIP3_HUMAN	BAIAP3	HGNC	.	.	UPI0000071E58	SNV	BAIAP3,synonymous_variant,p.%3D,ENST00000324385,;BAIAP3,5_prime_UTR_variant,,ENST00000397489,;BAIAP3,intron_variant,,ENST00000426824,;BAIAP3,intron_variant,,ENST00000562208,;BAIAP3,intron_variant,,ENST00000568887,;BAIAP3,intron_variant,,ENST00000397488,;BAIAP3,upstream_gene_variant,,ENST00000421665,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,intron_variant,,ENST00000565665,;RPS20P2,downstream_gene_variant,,ENST00000402520,;	224	87	67	SUCCESS
MAP2K4	6416	.	GRCh37	17	12013730	12013731	+	inframe_insertion	In_Frame_Ins	INS	-	-	ATT	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	87	0	ENST00000353533.5:c.676_678dup	p.Ile226dup	p.I226dup	ENST00000353533	NM_003010.3	226	-/ATT	0	.	.	.	.	.	ATT	-/I	protein_coding	YES	CCDS11162.1	672-673	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAAATTAT	BUFFER|p.E221*|c.661G>T|4	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF46,hmmpanther:PTHR24360,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262445	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000353533	Transcript	.	.	ENSG00000065559	6844	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MP2K4_HUMAN	MAP2K4	HGNC	J3QQR2_HUMAN,J3KTI6_HUMAN	.	UPI000012F48E	insertion	MAP2K4,inframe_insertion,p.Ile226dup,ENST00000353533,;MAP2K4,inframe_insertion,p.Ile237dup,ENST00000415385,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000579089,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000581941,;MAP2K4,3_prime_UTR_variant,,ENST00000602375,;MAP2K4,3_prime_UTR_variant,,ENST00000602811,;MAP2K4,3_prime_UTR_variant,,ENST00000582183,;MAP2K4,3_prime_UTR_variant,,ENST00000538465,;MAP2K4,3_prime_UTR_variant,,ENST00000602537,;MAP2K4,3_prime_UTR_variant,,ENST00000602686,;MAP2K4,3_prime_UTR_variant,,ENST00000602305,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000582377,;MAP2K4,upstream_gene_variant,,ENST00000585076,;	735-736	87	39	SUCCESS
RILP	83547	.	GRCh37	17	1549897	1549897	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200277401	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	35	0	ENST00000301336.6:c.1045C>T	p.Arg349Trp	p.R349W	ENST00000301336	NM_031430.2	349	Cgg/Tgg	0	A:0	A:0	.	A:0.0014	.	A	R/W	protein_coding	YES	CCDS11009.1	1045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGATACC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21502:SF7,hmmpanther:PTHR21502	A:0.001	A:0.0001	ENSP00000301336	A:0	8/8	.	.	.	.	.	.	.	.	rs200277401,rs775209590	8/8	PASS	ENST00000301336	Transcript	.	A:0.0004	ENSG00000167705	30266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	A:0	deleterious(0.02)	.	RILP_HUMAN	RILP	HGNC	.	.	UPI0000073C49	SNV	RILP,missense_variant,p.Arg174Trp,ENST00000574810,;RILP,missense_variant,p.Arg349Trp,ENST00000301336,;SCARF1,upstream_gene_variant,,ENST00000348987,;PRPF8,downstream_gene_variant,,ENST00000304992,;PRPF8,downstream_gene_variant,,ENST00000572621,;SCARF1,upstream_gene_variant,,ENST00000263071,;PRPF8,downstream_gene_variant,,ENST00000571958,;SCARF1,upstream_gene_variant,,ENST00000571272,;SCARF1,upstream_gene_variant,,ENST00000574545,;RILP,non_coding_transcript_exon_variant,,ENST00000570858,;RILP,non_coding_transcript_exon_variant,,ENST00000573398,;PRPF8,downstream_gene_variant,,ENST00000572723,;SCARF1,upstream_gene_variant,,ENST00000576012,;SCARF1,upstream_gene_variant,,ENST00000434376,;SCARF1,upstream_gene_variant,,ENST00000573852,;SCARF1,upstream_gene_variant,,ENST00000573867,;	1318	35	50	SUCCESS
TOP3A	7156	.	GRCh37	17	18205891	18205891	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs775968686	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	99	1	ENST00000321105.5:c.643+3G>A		p.X215_splice	ENST00000321105	NM_004618.3	215		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11194.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCACCAA	NONE	.	.	.	.	.	ENSP00000321636	.	.	.	.	.	.	.	.	.	.	rs775968686	.	PASS	ENST00000321105	Transcript	.	.	ENSG00000177302	11992	.	.	LOW	6/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TOP3A_HUMAN	TOP3A	HGNC	B4DSJ0_HUMAN,A8K398_HUMAN	.	UPI00001371A0	SNV	TOP3A,splice_region_variant,,ENST00000580095,;TOP3A,splice_region_variant,,ENST00000321105,;TOP3A,splice_region_variant,,ENST00000542570,;TOP3A,upstream_gene_variant,,ENST00000540524,;TOP3A,downstream_gene_variant,,ENST00000584887,;TOP3A,downstream_gene_variant,,ENST00000582230,;TOP3A,downstream_gene_variant,,ENST00000584669,;TOP3A,splice_region_variant,,ENST00000582981,;TOP3A,splice_region_variant,,ENST00000469739,;TOP3A,splice_region_variant,,ENST00000584582,;TOP3A,splice_region_variant,,ENST00000583804,;TOP3A,downstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000581536,;TOP3A,downstream_gene_variant,,ENST00000583328,;TOP3A,downstream_gene_variant,,ENST00000585031,;TOP3A,downstream_gene_variant,,ENST00000472959,;	.	100	49	SUCCESS
PIGS	94005	.	GRCh37	17	26888556	26888556	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	126	0	ENST00000308360.7:c.560T>A	p.Val187Asp	p.V187D	ENST00000308360	NM_033198.3	187	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS11235.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACTATG	NONE	.	.	Pfam_domain:PF10510,hmmpanther:PTHR21072	.	.	ENSP00000309430	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000308360	Transcript	.	.	ENSG00000087111	14937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.62)	.	PIGS_HUMAN	PIGS	HGNC	Q9BVC1_HUMAN,Q96IR5_HUMAN,F5H019_HUMAN	.	UPI000013D7D9	SNV	PIGS,missense_variant,p.Val179Asp,ENST00000395346,;PIGS,missense_variant,p.Val187Asp,ENST00000308360,;PIGS,missense_variant,p.Val126Asp,ENST00000543734,;PIGS,non_coding_transcript_exon_variant,,ENST00000465444,;PIGS,intron_variant,,ENST00000580968,;PIGS,downstream_gene_variant,,ENST00000584413,;PIGS,3_prime_UTR_variant,,ENST00000268758,;PIGS,non_coding_transcript_exon_variant,,ENST00000577620,;PIGS,non_coding_transcript_exon_variant,,ENST00000582615,;RP11-192H23.4,intron_variant,,ENST00000481916,;PIGS,intron_variant,,ENST00000584080,;PIGS,downstream_gene_variant,,ENST00000582721,;PIGS,downstream_gene_variant,,ENST00000577594,;PIGS,upstream_gene_variant,,ENST00000484580,;PIGS,upstream_gene_variant,,ENST00000492429,;PIGS,upstream_gene_variant,,ENST00000487231,;PIGS,downstream_gene_variant,,ENST00000583631,;	936	126	115	SUCCESS
KRTAP9-4	85280	.	GRCh37	17	39405942	39405942	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	138	0	ENST00000334109.2:c.-31G>A		p.*11*	ENST00000334109	NM_033191.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11386.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGAACAG	NONE	.	.	.	.	.	ENSP00000334922	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334109	Transcript	.	.	ENSG00000241595	18902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA94_HUMAN	KRTAP9-4	HGNC	.	.	UPI000013F6DA	SNV	KRTAP9-4,5_prime_UTR_variant,,ENST00000334109,;	4	138	124	SUCCESS
LRRC37A	9884	.	GRCh37	17	44410006	44410006	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	300	26	336	0	ENST00000320254.5:c.4793T>G	p.Leu1598Arg	p.L1598R	ENST00000320254	NM_014834.4	1598	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS11504.2	4793	MUSE|VARSCANS	.	TATACTTTTCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF14914,hmmpanther:PTHR23045	.	.	ENSP00000326324	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000320254	Transcript	.	.	ENSG00000176681	29069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.132)	.	deleterious(0)	.	L37A1_HUMAN	LRRC37A	HGNC	E9PP10_HUMAN	.	UPI0001AE66EC	SNV	LRRC37A,missense_variant,p.Leu1598Arg,ENST00000393465,;LRRC37A,missense_variant,p.Leu1598Arg,ENST00000320254,;LRRC37A,missense_variant,p.Leu636Arg,ENST00000496930,;ARL17B,intron_variant,,ENST00000570618,;ARL17B,intron_variant,,ENST00000434041,;ARL17B,intron_variant,,ENST00000575698,;ARL17B,intron_variant,,ENST00000575960,;ARL17B,downstream_gene_variant,,ENST00000571246,;ARL17B,intron_variant,,ENST00000572991,;	4796	336	327	SUCCESS
MED13	9969	.	GRCh37	17	60038954	60038954	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	76	0	ENST00000397786.2:c.5251C>A	p.Pro1751Thr	p.P1751T	ENST00000397786	NM_005121.2	1751	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS42366.1	5251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGACTTC	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950,Pfam_domain:PF06333	.	.	ENSP00000380888	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Pro1751Thr,ENST00000397786,;	5328	76	72	SUCCESS
SMIM6	100130933	.	GRCh37	17	73643554	73643554	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	6	114	0	ENST00000556126.2:c.98C>T	p.Thr33Ile	p.T33I	ENST00000556126		33	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS54166.1	98	MUTECT|MUSE	.	CATCACCGCTG	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000463361	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000579469	Transcript	.	.	ENSG00000259120	40032	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.34)	.	SMIM6_HUMAN	SMIM6	HGNC	.	.	UPI000005275F	SNV	SMIM6,missense_variant,p.Thr33Ile,ENST00000556126,;SMIM6,missense_variant,p.Thr33Ile,ENST00000579469,;RECQL5,intron_variant,,ENST00000578201,;RECQL5,intron_variant,,ENST00000423245,;RECQL5,intron_variant,,ENST00000317905,;RECQL5,downstream_gene_variant,,ENST00000584999,;RECQL5,downstream_gene_variant,,ENST00000420326,;RECQL5,downstream_gene_variant,,ENST00000340830,;RECQL5,downstream_gene_variant,,ENST00000580078,;RECQL5,downstream_gene_variant,,ENST00000579274,;RECQL5,intron_variant,,ENST00000582464,;	454	114	106	SUCCESS
TP53	7157	.	GRCh37	17	7578275	7578275	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs866380588	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	149	0	ENST00000269305.4:c.574C>T	p.Gln192Ter	p.Q192*	ENST00000269305	NM_001126112.2	192	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11118.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGAGGAG	SITE|p.Q192*|c.574C>T|6,SITE|p.Q99*|c.295C>T|17,SITE|p.Q192*|c.574C>T|10,SITE|p.Q192*|c.574C>T|17,SITE|p.Q192*|c.574C>T|86,SITE|p.Q192*|c.574C>T|17,SITE|p.Q60*|c.178C>T|17,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.Q192H|c.576G>T|3,CODON|p.Q192Q|c.576G>A|3,CODON|p.Q192R|c.575A>G|5,CODON|p.P191delP|c.572_574delCTC|3,CODON|p.P191delP|c.572_574delCTC|3,CODON|p.P191delP|c.572_574delCTC|5,CODON|p.P59delP|c.176_178delCTC|3,CODON|p.P98delP|c.293_295delCTC|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8,BUFFER|p.A189V|c.566C>T|4,BUFFER|p.A189T|c.565G>A|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12643C>A,TP53_g.12643C>T,COSM10733,COSM44111,COSM117949,COSM117946,COSM117947,COSM3370929,COSM1649390,COSM117948	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Gln192Ter,ENST00000413465,;TP53,stop_gained,p.Gln192Ter,ENST00000420246,;TP53,stop_gained,p.Gln192Ter,ENST00000269305,;TP53,stop_gained,p.Gln60Ter,ENST00000509690,;TP53,stop_gained,p.Gln192Ter,ENST00000359597,;TP53,stop_gained,p.Gln99Ter,ENST00000514944,;TP53,stop_gained,p.Gln192Ter,ENST00000445888,;TP53,stop_gained,p.Gln192Ter,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	764	149	102	SUCCESS
TAF4B	6875	.	GRCh37	18	23854650	23854650	+	synonymous_variant	Silent	SNP	C	C	T	rs778101540	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	19	171	0	ENST00000269142.5:c.621C>T	p.Val207=	p.V207=	ENST00000269142	NM_005640.1	207	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS42421.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCGTCAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11	.	.	ENSP00000269142	.	4/15	.	.	.	.	.	.	.	.	rs778101540	4/15	PASS	ENST00000269142	Transcript	.	.	ENSG00000141384	11538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF4B_HUMAN	TAF4B	HGNC	B4DYT3_HUMAN,A4PBF8_HUMAN	.	UPI00006C65F2	SNV	TAF4B,synonymous_variant,p.%3D,ENST00000578121,;TAF4B,synonymous_variant,p.%3D,ENST00000269142,;TAF4B,synonymous_variant,p.%3D,ENST00000400466,;TAF4B,synonymous_variant,p.%3D,ENST00000418698,;	1619	171	114	SUCCESS
METTL4	64863	.	GRCh37	18	2539040	2539040	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1417179957	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	54	0	ENST00000574538.1:c.1378C>T	p.Gln460Ter	p.Q460*	ENST00000574538	NM_022840.3	460	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11826.1	1378	RADIA|MUSE	.	ATGCTGAAATT	NONE	.	.	PROSITE_profiles:PS51143,hmmpanther:PTHR14475:SF2,hmmpanther:PTHR14475	.	.	ENSP00000458290	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000574538	Transcript	.	.	ENSG00000101574	24726	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	METL4_HUMAN	METTL4	HGNC	I3L4A0_HUMAN,I3L0Y1_HUMAN	.	UPI000020191B	SNV	METTL4,stop_gained,p.Gln460Ter,ENST00000574538,;METTL4,3_prime_UTR_variant,,ENST00000576251,;METTL4,3_prime_UTR_variant,,ENST00000319888,;METTL4,non_coding_transcript_exon_variant,,ENST00000573134,;	2154	54	40	SUCCESS
LAMA1	284217	.	GRCh37	18	6958645	6958645	+	synonymous_variant	Silent	SNP	A	A	G	rs940238033	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	90	0	ENST00000389658.3:c.7795T>C	p.Leu2599=	p.L2599=	ENST00000389658	NM_005559.3	2599	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS32787.1	7795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAATTGGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000374309	.	55/63	.	.	.	.	.	.	.	.	.	55/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000492048,;	7889	90	84	SUCCESS
CC2D1A	54862	.	GRCh37	19	14024108	14024108	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	79	0	ENST00000318003.7:c.506G>A	p.Gly169Glu	p.G169E	ENST00000318003	NM_017721.4	169	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS42512.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGGGCTTA	NONE	.	.	hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7,SMART_domains:SM00685	.	.	ENSP00000313601	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000318003	Transcript	1	.	ENSG00000132024	30237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	C2D1A_HUMAN	CC2D1A	HGNC	.	.	UPI0000203524	SNV	CC2D1A,missense_variant,p.Gly169Glu,ENST00000589606,;CC2D1A,missense_variant,p.Gly169Glu,ENST00000318003,;CC2D1A,missense_variant,p.Gly15Glu,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000585896,;	747	79	80	SUCCESS
ZNF714	148206	.	GRCh37	19	21299717	21299717	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	45	160	0	ENST00000596143.1:c.247T>G	p.Leu83Val	p.L83V	ENST00000596143	NM_182515.3	83	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS54239.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATTTACAG	NONE	.	.	hmmpanther:PTHR24384:SF104,hmmpanther:PTHR24384	.	.	ENSP00000472368	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000596143	Transcript	.	.	ENSG00000160352	27124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.04)	.	ZN714_HUMAN	ZNF714	HGNC	M0R2G4_HUMAN,M0QYV9_HUMAN	.	UPI000059D6C5	SNV	ZNF714,missense_variant,p.Leu83Val,ENST00000596143,;ZNF714,missense_variant,p.Leu111Val,ENST00000596367,;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,5_prime_UTR_variant,,ENST00000597424,;ZNF714,5_prime_UTR_variant,,ENST00000597086,;ZNF714,intron_variant,,ENST00000596053,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Leu83Val,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;	572	160	159	SUCCESS
CCNE1	898	.	GRCh37	19	30311721	30311721	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	113	0	ENST00000262643.3:c.575G>C	p.Gly192Ala	p.G192A	ENST00000262643	NM_001238.2	192	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS12419.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGGATTT	NONE	.	.	Superfamily_domains:SSF47954,PIRSF_domain:PIRSF001771,SMART_domains:SM00385,Pfam_domain:PF00134,Gene3D:1.10.472.10,hmmpanther:PTHR10177:SF71,hmmpanther:PTHR10177	.	.	ENSP00000262643	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000262643	Transcript	.	.	ENSG00000105173	1589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCNE1_HUMAN	CCNE1	HGNC	F6KX26_HUMAN	.	UPI0000001C33	SNV	CCNE1,missense_variant,p.Gly192Ala,ENST00000262643,;CCNE1,missense_variant,p.Gly189Ala,ENST00000575243,;CCNE1,missense_variant,p.Gly110Ala,ENST00000576532,;CCNE1,missense_variant,p.Gly177Ala,ENST00000444983,;CCNE1,intron_variant,,ENST00000357943,;CCNE1,upstream_gene_variant,,ENST00000574121,;	854	113	80	SUCCESS
KCTD15	79047	.	GRCh37	19	34302696	34302696	+	intron_variant	Intron	SNP	G	G	T	rs748444599	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	68	0	ENST00000430256.3:c.693+239G>T		p.*231*	ENST00000430256				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46039.1	.	RADIA|VARSCANS	.	AAAAGGATGTT	NONE	.	.	.	.	.	ENSP00000394390	.	.	.	.	.	.	.	.	.	.	rs748444599	.	PASS	ENST00000430256	Transcript	.	.	ENSG00000153885	23297	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCD15_HUMAN	KCTD15	HGNC	K7EQS3_HUMAN,K7EPF0_HUMAN,K7EN63_HUMAN,K7EM48_HUMAN,K7EIF1_HUMAN	.	UPI000004D340	SNV	KCTD15,missense_variant,p.Asp232Tyr,ENST00000284006,;KCTD15,3_prime_UTR_variant,,ENST00000590385,;KCTD15,intron_variant,,ENST00000588881,;KCTD15,intron_variant,,ENST00000589786,;KCTD15,intron_variant,,ENST00000430256,;KCTD15,downstream_gene_variant,,ENST00000587559,;KCTD15,downstream_gene_variant,,ENST00000587658,;KCTD15,downstream_gene_variant,,ENST00000588637,;KCTD15,upstream_gene_variant,,ENST00000592363,;	.	68	42	SUCCESS
C19orf55	0	.	GRCh37	19	36256039	36256039	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	69	0	ENST00000396908.4:c.731T>C	p.Ile244Thr	p.I244T	ENST00000396908	NM_001039887.2	244	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	.	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATCCCTG	NONE	.	.	hmmpanther:PTHR22045	.	.	ENSP00000467267	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000544099	Transcript	.	.	ENSG00000167595	25204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	.	C19orf55	HGNC	K7EP81_HUMAN	.	UPI00006CA356	SNV	C19orf55,missense_variant,p.Ile243Thr,ENST00000301165,;C19orf55,missense_variant,p.Ile244Thr,ENST00000544099,;C19orf55,missense_variant,p.Ile244Thr,ENST00000396908,;C19orf55,downstream_gene_variant,,ENST00000421853,;C19orf55,downstream_gene_variant,,ENST00000542134,;C19orf55,downstream_gene_variant,,ENST00000537459,;C19orf55,downstream_gene_variant,,ENST00000444637,;C19orf55,downstream_gene_variant,,ENST00000536950,;C19orf55,downstream_gene_variant,,ENST00000545674,;AC002398.13,downstream_gene_variant,,ENST00000589397,;C19orf55,non_coding_transcript_exon_variant,,ENST00000542591,;C19orf55,intron_variant,,ENST00000544876,;C19orf55,upstream_gene_variant,,ENST00000536037,;C19orf55,missense_variant,p.Ile232Thr,ENST00000535581,;C19orf55,downstream_gene_variant,,ENST00000601095,;C19orf55,upstream_gene_variant,,ENST00000544158,;C19orf55,downstream_gene_variant,,ENST00000600988,;C19orf55,downstream_gene_variant,,ENST00000539771,;	794	69	60	SUCCESS
DYRK1B	9149	.	GRCh37	19	40316849	40316849	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774158060	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	39	0	ENST00000323039.5:c.1489A>G	p.Ile497Val	p.I497V	ENST00000323039	NM_004714.1	497	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS12543.1	1489	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGATAGGGG	NONE	byFrequency	.	hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF27	.	.	ENSP00000469863	.	10/11	.	.	.	.	.	.	.	.	rs774158060	10/11	PASS	ENST00000593685	Transcript	.	.	ENSG00000105204	3092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	DYR1B_HUMAN	DYRK1B	HGNC	M0R131_HUMAN	.	UPI0000001059	SNV	DYRK1B,missense_variant,p.Ile469Val,ENST00000597639,;DYRK1B,missense_variant,p.Ile497Val,ENST00000593685,;DYRK1B,missense_variant,p.Ile469Val,ENST00000348817,;DYRK1B,missense_variant,p.Ile457Val,ENST00000430012,;DYRK1B,missense_variant,p.Ile497Val,ENST00000323039,;DYRK1B,downstream_gene_variant,,ENST00000601972,;DYRK1B,downstream_gene_variant,,ENST00000600611,;DYRK1B,downstream_gene_variant,,ENST00000601696,;	1958	40	28	SUCCESS
CEACAM5	1048	.	GRCh37	19	42212653	42212653	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	59	0	ENST00000221992.6:c.3G>A	p.Met1?	p.M1?	ENST00000221992	NM_004363.2	1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGGAGTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000469421	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000598976	Transcript	.	.	ENSG00000267881	.	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	deleterious(0.01)	.	.	CEA	Uniprot_gn	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI0002A4737D	SNV	CEA,start_lost,p.Met1?,ENST00000598976,;CEA,start_lost,p.Met1?,ENST00000435837,;CEACAM5,start_lost,p.Met1?,ENST00000398599,;CEACAM5,start_lost,p.Met1?,ENST00000221992,;CEACAM5,start_lost,p.Met1?,ENST00000405816,;CEACAM5,upstream_gene_variant,,ENST00000595403,;CEACAM5,upstream_gene_variant,,ENST00000595113,;CEACAM7,upstream_gene_variant,,ENST00000599715,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000460121,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000596606,;	123	59	40	SUCCESS
ELAVL1	1994	.	GRCh37	19	8032602	8032602	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768294547	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	41	131	0	ENST00000351593.5:c.584A>G	p.Asn195Ser	p.N195S	ENST00000351593		195	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS12193.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCATTGAAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF228,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01661,SMART_domains:SM00360,Superfamily_domains:SSF54928,Prints_domain:PR00961	.	.	ENSP00000385269	.	5/6	.	.	.	.	.	.	.	.	rs768294547	5/6	PASS	ENST00000407627	Transcript	.	.	ENSG00000066044	3312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	tolerated(0.06)	.	ELAV1_HUMAN	ELAVL1	HGNC	.	.	UPI0000129E74	SNV	ELAVL1,missense_variant,p.Asn195Ser,ENST00000351593,;ELAVL1,missense_variant,p.Asn168Ser,ENST00000407627,;ELAVL1,missense_variant,p.Asn168Ser,ENST00000596459,;ELAVL1,intron_variant,,ENST00000593807,;ELAVL1,intron_variant,,ENST00000596154,;	633	131	132	SUCCESS
FBN3	84467	.	GRCh37	19	8196686	8196686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	37	0	ENST00000270509.2:c.1742T>C	p.Ile581Thr	p.I581T	ENST00000270509	NM_032447.3	581	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS12196.1	1742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGATGCCG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	15/64	.	.	.	.	.	.	.	.	.	15/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0.05)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Ile581Thr,ENST00000600128,;FBN3,missense_variant,p.Ile581Thr,ENST00000601739,;FBN3,missense_variant,p.Ile581Thr,ENST00000270509,;	2157	37	42	SUCCESS
MUC16	94025	.	GRCh37	19	9015640	9015640	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1284096131	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	52	183	0	ENST00000397910.4:c.38183A>C	p.Glu12728Ala	p.E12728A	ENST00000397910	NM_024690.2	12728	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS54212.1	38183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTCTGTG	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	29/84	.	.	.	.	.	.	.	.	.	29/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Glu12728Ala,ENST00000397910,;	38387	183	157	SUCCESS
PRDM2	7799	.	GRCh37	1	14075966	14075966	+	synonymous_variant	Silent	SNP	C	C	A	rs1288605658	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	28	0	ENST00000235372.7:c.495C>A	p.Ser165=	p.S165=	ENST00000235372	NM_012231.4	165	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS150.1	495	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCCCCAA	NONE	.	.	PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000235372	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,synonymous_variant,p.%3D,ENST00000311066,;PRDM2,synonymous_variant,p.%3D,ENST00000376048,;PRDM2,synonymous_variant,p.%3D,ENST00000235372,;PRDM2,5_prime_UTR_variant,,ENST00000505823,;PRDM2,5_prime_UTR_variant,,ENST00000343137,;PRDM2,5_prime_UTR_variant,,ENST00000413440,;PRDM2,5_prime_UTR_variant,,ENST00000503842,;PRDM2,5_prime_UTR_variant,,ENST00000407521,;PRDM2,downstream_gene_variant,,ENST00000484063,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502724,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502727,;PRDM2,3_prime_UTR_variant,,ENST00000491134,;PRDM2,non_coding_transcript_exon_variant,,ENST00000491815,;	1351	28	28	SUCCESS
FLG	2312	.	GRCh37	1	152282032	152282032	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	294	88	326	0	ENST00000368799.1:c.5330C>G	p.Ser1777Cys	p.S1777C	ENST00000368799	NM_002016.1	1777	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS30860.1	5330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGGACTCA	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	COSM528727	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.7)	.	.	1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser1777Cys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5366	326	383	SUCCESS
TRIM46	80128	.	GRCh37	1	155148663	155148663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	40	0	ENST00000334634.4:c.625G>T	p.Ala209Ser	p.A209S	ENST00000334634	NM_001282378.1	209	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1097.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCCCAG	NONE	.	.	hmmpanther:PTHR24103:SF27,hmmpanther:PTHR24103	.	.	ENSP00000334657	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000334634	Transcript	.	.	ENSG00000163462	19019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRI46_HUMAN	TRIM46	HGNC	F5GYK0_HUMAN	.	UPI000022B316	SNV	TRIM46,missense_variant,p.Ala186Ser,ENST00000368382,;TRIM46,missense_variant,p.Ala209Ser,ENST00000392451,;TRIM46,missense_variant,p.Ala209Ser,ENST00000334634,;TRIM46,missense_variant,p.Ala216Ser,ENST00000543729,;TRIM46,missense_variant,p.Ala209Ser,ENST00000368383,;TRIM46,missense_variant,p.Ala83Ser,ENST00000545012,;TRIM46,missense_variant,p.Ala209Ser,ENST00000368385,;RP11-201K10.3,intron_variant,,ENST00000473363,;KRTCAP2,upstream_gene_variant,,ENST00000295682,;TRIM46,non_coding_transcript_exon_variant,,ENST00000474430,;TRIM46,non_coding_transcript_exon_variant,,ENST00000468878,;TRIM46,non_coding_transcript_exon_variant,,ENST00000464760,;KRTCAP2,upstream_gene_variant,,ENST00000492892,;KRTCAP2,upstream_gene_variant,,ENST00000463527,;KRTCAP2,upstream_gene_variant,,ENST00000461136,;KRTCAP2,upstream_gene_variant,,ENST00000487350,;KRTCAP2,upstream_gene_variant,,ENST00000491084,;KRTCAP2,upstream_gene_variant,,ENST00000490672,;KRTCAP2,upstream_gene_variant,,ENST00000471891,;KRTCAP2,upstream_gene_variant,,ENST00000482246,;KRTCAP2,upstream_gene_variant,,ENST00000497317,;	625	40	45	SUCCESS
OR6Y1	391112	.	GRCh37	1	158516972	158516972	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	56	108	1	ENST00000302617.3:c.924G>A	p.Lys308=	p.K308=	ENST00000302617	NM_001005189.1	308	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS30899.1	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCTTTCT	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302617	Transcript	.	.	ENSG00000197532	14823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6Y1_HUMAN	OR6Y1	HGNC	.	.	UPI000004B1E2	SNV	OR6Y1,synonymous_variant,p.%3D,ENST00000302617,;	924	109	150	SUCCESS
RGL1	23179	.	GRCh37	1	183891363	183891363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	17	127	0	ENST00000360851.3:c.2012G>A	p.Ser671Asn	p.S671N	ENST00000360851		671	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS1359.1	2117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGAGCCAGG	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00314,Pfam_domain:PF00788,Gene3D:3.10.20.90,PROSITE_profiles:PS50200	.	.	ENSP00000303192	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000304685	Transcript	.	.	ENSG00000143344	30281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.11)	.	RGL1_HUMAN	RGL1	HGNC	.	.	UPI000002B24C	SNV	RGL1,missense_variant,p.Ser706Asn,ENST00000304685,;RGL1,missense_variant,p.Ser642Asn,ENST00000539189,;RGL1,missense_variant,p.Ser669Asn,ENST00000536277,;RGL1,missense_variant,p.Ser671Asn,ENST00000360851,;	2566	127	118	SUCCESS
HMCN1	83872	.	GRCh37	1	186120388	186120388	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	76	0	ENST00000271588.4:c.14665G>C	p.Gly4889Arg	p.G4889R	ENST00000271588	NM_031935.2	4889	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS30956.1	14665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTGGAATT	NONE	.	.	PROSITE_profiles:PS50993,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Pfam_domain:PF07474,Gene3D:2.40.155.10,SMART_domains:SM00682,Superfamily_domains:SSF54511	.	.	ENSP00000271588	.	94/107	.	.	.	.	.	.	.	.	.	94/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Gly4889Arg,ENST00000367492,;HMCN1,missense_variant,p.Gly4889Arg,ENST00000271588,;HMCN1,upstream_gene_variant,,ENST00000475585,;	14894	76	80	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204197269	204197269	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	58	0	ENST00000272203.3:c.2973G>T	p.Arg991=	p.R991=	ENST00000272203	NM_014935.4	991	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1444.1	2973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATCCGCTT	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	21/23	.	.	.	.	.	.	.	.	COSM3481958	21/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,synonymous_variant,p.%3D,ENST00000414478,;PLEKHA6,synonymous_variant,p.%3D,ENST00000272203,;	3290	58	74	SUCCESS
DUSP10	11221	.	GRCh37	1	221879681	221879681	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	52	113	1	ENST00000366899.3:c.939C>T	p.Thr313=	p.T313=	ENST00000366899	NM_007207.4	313	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1528.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGGTGGG	NONE	.	.	Superfamily_domains:SSF52799,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF299	.	.	ENSP00000355866	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000366899	Transcript	.	.	ENSG00000143507	3065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS10_HUMAN	DUSP10	HGNC	.	.	UPI000003473B	SNV	DUSP10,synonymous_variant,p.%3D,ENST00000366899,;DUSP10,5_prime_UTR_variant,,ENST00000544095,;DUSP10,5_prime_UTR_variant,,ENST00000323825,;DUSP10,non_coding_transcript_exon_variant,,ENST00000477026,;DUSP10,non_coding_transcript_exon_variant,,ENST00000468085,;DUSP10,non_coding_transcript_exon_variant,,ENST00000494642,;	1178	114	98	SUCCESS
NLRP3	114548	.	GRCh37	1	247588695	247588695	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	197	91	219	0	ENST00000336119.3:c.1953del	p.Lys652ArgfsTer70	p.K652Rfs*70	ENST00000336119	NM_001127462.2	650	ttC/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS1632.1	1950	INDELOCATOR*|VARSCANI*|PINDEL	.	CTATTTCCCCAA	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	COSM3486612	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	3	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	deletion	NLRP3,frameshift_variant,p.Lys652ArgfsTer70,ENST00000366496,;NLRP3,frameshift_variant,p.Lys652ArgfsTer70,ENST00000336119,;NLRP3,frameshift_variant,p.Lys652ArgfsTer97,ENST00000391827,;NLRP3,frameshift_variant,p.Lys652ArgfsTer70,ENST00000366497,;NLRP3,frameshift_variant,p.Lys652ArgfsTer70,ENST00000391828,;NLRP3,frameshift_variant,p.Lys652ArgfsTer97,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	2696	219	288	SUCCESS
ARID1A	8289	.	GRCh37	1	27106299	27106300	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CTGGA	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	95	0	ENST00000324856.7:c.5915_5919dup	p.Gln1974ThrfsTer43	p.Q1974Tfs*43	ENST00000324856	NM_006015.4	1970	-/CTGGA	0	.	.	.	.	.	CTGGA	-/LX	protein_coding	YES	CCDS285.1	5910-5911	INDELOCATOR|VARSCANI	.	ACCCTTCTGGA	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	9	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	insertion	ARID1A,frameshift_variant,p.Gln1757ThrfsTer43,ENST00000457599,;ARID1A,frameshift_variant,p.Gln1591ThrfsTer43,ENST00000374152,;ARID1A,frameshift_variant,p.Gln871ThrfsTer43,ENST00000430799,;ARID1A,frameshift_variant,p.Gln302ThrfsTer43,ENST00000540690,;ARID1A,frameshift_variant,p.Gln1974ThrfsTer43,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6281-6282	95	102	SUCCESS
DOCK7	85440	.	GRCh37	1	62995020	62995020	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	81	0	ENST00000340370.5:c.3616C>G	p.Arg1206Gly	p.R1206G	ENST00000340370	NM_033407.3	1206	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS30734.1	3616	MUTECT|MUSE	.	CACTCGAGCCT	NONE	.	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	29/49	.	.	.	.	.	.	.	.	.	29/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.702)	.	deleterious(0)	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,missense_variant,p.Arg1237Gly,ENST00000251157,;DOCK7,missense_variant,p.Arg1206Gly,ENST00000340370,;DOCK7,missense_variant,p.Arg409Gly,ENST00000454575,;RP11-293K19.1,upstream_gene_variant,,ENST00000604867,;	3634	81	99	SUCCESS
PER3	8863	.	GRCh37	1	7887614	7887614	+	synonymous_variant	Silent	SNP	A	A	G	rs1268148916	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	75	135	1	ENST00000361923.2:c.2601A>G	p.Pro867=	p.P867=	ENST00000361923	NM_016831.1	867	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS89.1	2601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	.	.	ENSP00000355031	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000361923	Transcript	.	.	ENSG00000049246	8847	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PER3_HUMAN	PER3	HGNC	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN	.	UPI0000167B1D	SNV	PER3,synonymous_variant,p.%3D,ENST00000377532,;PER3,synonymous_variant,p.%3D,ENST00000361923,;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;	2776	136	195	SUCCESS
DPYD	1806	.	GRCh37	1	97981322	97981322	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	57	0	ENST00000370192.3:c.1700G>T	p.Gly567Val	p.G567V	ENST00000370192	NM_000110.3	567	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS30777.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCCAGCT	NONE	.	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Pfam_domain:PF01180,Gene3D:3.20.20.70,TIGRFAM_domain:TIGR01037,Superfamily_domains:SSF51395	.	.	ENSP00000359211	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Gly567Val,ENST00000370192,;	1801	57	64	SUCCESS
LPPR5	0	.	GRCh37	1	99358645	99358645	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769178977	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	46	105	0	ENST00000263177.4:c.949T>C	p.Phe317Leu	p.F317L	ENST00000263177	NM_001037317.1	317	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS30778.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGAAGGCAG	NONE	.	.	hmmpanther:PTHR10165:SF17,hmmpanther:PTHR10165	.	.	ENSP00000263177	.	6/6	.	.	.	.	.	.	.	.	rs769178977	6/6	PASS	ENST00000263177	Transcript	.	.	ENSG00000117598	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.15)	.	LPPR5_HUMAN	LPPR5	Uniprot_gn	.	.	UPI0000048D53	SNV	LPPR5,missense_variant,p.Phe317Leu,ENST00000263177,;LPPR5,missense_variant,p.Phe312Leu,ENST00000370188,;	1171	105	101	SUCCESS
IGHV1OR21-1	390530	.	GRCh37	21	10862949	10862949	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs754881340	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	312	28	293	0	ENST00000559480.1:c.245A>T	p.Lys82Met	p.K82M	ENST00000559480		82	aAg/aTg	0	.	.	.	.	.	T	K/M	IG_V_gene	YES	.	245	MUTECT|MUSE|VARSCANS	.	ACAGAAGTTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000453358	.	2/2	.	.	.	.	.	.	.	.	rs754881340,COSM1269959	2/2	PASS	ENST00000559480	Transcript	.	.	ENSG00000169861	38040	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.198)	.	deleterious(0.05)	0,1	IV1U1_HUMAN	IGHV1OR21-1	HGNC	.	.	UPI000041AB26	SNV	IGHV1OR21-1,missense_variant,p.Lys82Met,ENST00000559480,;IGHV1OR21-1,missense_variant,p.Lys82Met,ENST00000302092,;	245	293	341	SUCCESS
ERG	2078	.	GRCh37	21	39817538	39817538	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	46	217	0	ENST00000288319.7:c.25T>G	p.Leu9Val	p.L9V	ENST00000288319	NM_182918.3	9	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS46648.1	46	RADIA|MUTECT|MUSE|VARSCANS	.	TGATAAGGCTT	NONE	.	.	hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849	.	.	ENSP00000414150	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000417133	Transcript	.	.	ENSG00000157554	3446	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ERG_HUMAN	ERG	HGNC	Q16031_HUMAN,B4DVX5_HUMAN	.	UPI000018681C	SNV	ERG,missense_variant,p.Leu16Val,ENST00000398910,;ERG,missense_variant,p.Leu9Val,ENST00000288319,;ERG,missense_variant,p.Leu16Val,ENST00000442448,;ERG,missense_variant,p.Leu9Val,ENST00000429727,;ERG,missense_variant,p.Leu16Val,ENST00000398919,;ERG,missense_variant,p.Leu9Val,ENST00000398905,;ERG,missense_variant,p.Leu16Val,ENST00000417133,;ERG,missense_variant,p.Leu16Val,ENST00000398911,;ERG,missense_variant,p.Leu9Val,ENST00000398907,;ERG,intron_variant,,ENST00000398897,;ERG,intron_variant,,ENST00000453032,;ERG,non_coding_transcript_exon_variant,,ENST00000492833,;ERG,non_coding_transcript_exon_variant,,ENST00000481609,;ERG,non_coding_transcript_exon_variant,,ENST00000473107,;ERG,non_coding_transcript_exon_variant,,ENST00000468474,;	232	217	260	SUCCESS
KRTAP10-10	353333	.	GRCh37	21	46057890	46057890	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199609167	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	5	63	1	ENST00000380095.1:c.556C>T	p.Pro186Ser	p.P186S	ENST00000380095	NM_181688.1	186	Ccc/Tcc	0	.	T:0	.	T:0	.	T	P/S	protein_coding	YES	CCDS33585.1	556	MUTECT|MUSE	.	GCAGACCCTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23262:SF40,hmmpanther:PTHR23262,Pfam_domain:PF13885	T:0	.	ENSP00000369438	T:0	1/1	.	.	.	.	.	.	.	.	rs199609167	1/1	PASS	ENST00000380095	Transcript	.	T:0.0004	ENSG00000221859	22972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	T:0.002	deleterious(0.02)	.	KR10A_HUMAN	KRTAP10-10	HGNC	.	.	UPI00001A95B8	SNV	KRTAP10-10,missense_variant,p.Pro186Ser,ENST00000380095,;TSPEAR,intron_variant,,ENST00000323084,;	618	64	69	SUCCESS
TXN2	25828	.	GRCh37	22	36876748	36876748	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	97	0	ENST00000216185.2:c.137C>T	p.Pro46Leu	p.P46L	ENST00000216185		46	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13928.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGGTGTT	NONE	.	.	hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF235	.	.	ENSP00000216185	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000216185	Transcript	.	.	ENSG00000100348	17772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.82)	.	THIOM_HUMAN	TXN2	HGNC	M0QXH0_HUMAN,B4DX69_HUMAN	.	UPI0000001BCB	SNV	TXN2,missense_variant,p.Pro46Leu,ENST00000403313,;TXN2,missense_variant,p.Pro46Leu,ENST00000216185,;TXN2,5_prime_UTR_variant,,ENST00000416967,;TXN2,non_coding_transcript_exon_variant,,ENST00000487725,;TXN2,missense_variant,p.Pro46Leu,ENST00000411915,;	604	97	62	SUCCESS
TBC1D8	11138	.	GRCh37	2	101648734	101648734	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	143	0	ENST00000376840.4:c.1887G>C	p.Val629=	p.V629=	ENST00000376840		629	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS46375.1	1887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGATCACTCG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000366036	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000376840	Transcript	.	.	ENSG00000204634	17791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCD8_HUMAN	TBC1D8	HGNC	.	.	UPI00015ADD19	SNV	TBC1D8,synonymous_variant,p.%3D,ENST00000376840,;TBC1D8,synonymous_variant,p.%3D,ENST00000409318,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000481317,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000473937,;TBC1D8,upstream_gene_variant,,ENST00000485875,;	1887	143	100	SUCCESS
TPO	7173	.	GRCh37	2	1437304	1437304	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	7	181	0	ENST00000329066.4:c.274G>A	p.Glu92Lys	p.E92K	ENST00000329066	NM_001206744.1	92	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1643.1	274	MUTECT|MUSE	.	CAGCAGAGATA	NONE	.	.	hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60	.	.	ENSP00000318820	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.468)	.	deleterious(0)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Glu92Lys,ENST00000329066,;TPO,missense_variant,p.Glu92Lys,ENST00000539820,;TPO,missense_variant,p.Glu92Lys,ENST00000337415,;TPO,missense_variant,p.Glu92Lys,ENST00000382198,;TPO,missense_variant,p.Glu92Lys,ENST00000382201,;TPO,missense_variant,p.Glu92Lys,ENST00000382269,;TPO,missense_variant,p.Glu92Lys,ENST00000423320,;TPO,missense_variant,p.Glu92Lys,ENST00000349624,;TPO,missense_variant,p.Glu92Lys,ENST00000346956,;TPO,missense_variant,p.Glu21Lys,ENST00000422464,;TPO,missense_variant,p.Glu92Lys,ENST00000345913,;TPO,intron_variant,,ENST00000497517,;	365	181	139	SUCCESS
B3GALT1	8708	.	GRCh37	2	168725799	168725799	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	100	0	ENST00000392690.3:c.250A>T	p.Ile84Phe	p.I84F	ENST00000392690		84	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS2227.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCATCAGC	NONE	.	.	hmmpanther:PTHR11214:SF20,hmmpanther:PTHR11214	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,missense_variant,p.Ile84Phe,ENST00000305861,;B3GALT1,missense_variant,p.Ile84Phe,ENST00000392690,;AC016723.4,intron_variant,,ENST00000430546,;AC016723.4,intron_variant,,ENST00000436982,;	342	100	68	SUCCESS
SESTD1	91404	.	GRCh37	2	180036950	180036950	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	121	1	ENST00000428443.3:c.266C>G	p.Pro89Arg	p.P89R	ENST00000428443	NM_178123.4	89	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS33338.1	266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGGAACA	NONE	.	.	Pfam_domain:PF13716,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19,PROSITE_profiles:PS50191	.	.	ENSP00000415332	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	SNV	SESTD1,missense_variant,p.Pro89Arg,ENST00000428443,;SESTD1,missense_variant,p.Pro89Arg,ENST00000435047,;SESTD1,missense_variant,p.Pro89Arg,ENST00000440010,;SESTD1,non_coding_transcript_exon_variant,,ENST00000486468,;SESTD1,downstream_gene_variant,,ENST00000452991,;	583	122	97	SUCCESS
ITGAV	3685	.	GRCh37	2	187540572	187540572	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	115	0	ENST00000261023.3:c.2846C>A	p.Ser949Tyr	p.S949Y	ENST00000261023	NM_002210.4	949	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2292.1	2846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTCTCTGA	NONE	.	.	hmmpanther:PTHR23220:SF4,hmmpanther:PTHR23220,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000261023	.	28/30	.	.	.	.	.	.	.	.	COSM173093	28/30	PASS	ENST00000261023	Transcript	.	.	ENSG00000138448	6150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.786)	.	deleterious(0.04)	1	ITAV_HUMAN	ITGAV	HGNC	L7RXH0_HUMAN	.	UPI000013D12E	SNV	ITGAV,missense_variant,p.Ser913Tyr,ENST00000374907,;ITGAV,missense_variant,p.Ser949Tyr,ENST00000261023,;ITGAV,missense_variant,p.Ser100Tyr,ENST00000430709,;ITGAV,missense_variant,p.Ser903Tyr,ENST00000433736,;AC017101.10,intron_variant,,ENST00000453665,;ITGAV,downstream_gene_variant,,ENST00000496477,;	3120	115	93	SUCCESS
ZSWIM2	151112	.	GRCh37	2	187693382	187693382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	52	0	ENST00000295131.2:c.1231A>G	p.Arg411Gly	p.R411G	ENST00000295131	NM_182521.2	411	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS33348.1	1231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTGTTTG	NONE	.	.	hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0	.	.	ENSP00000295131	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000295131	Transcript	.	.	ENSG00000163012	30990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.21)	.	ZSWM2_HUMAN	ZSWIM2	HGNC	.	.	UPI000013E20D	SNV	ZSWIM2,missense_variant,p.Arg411Gly,ENST00000295131,;	1271	52	48	SUCCESS
SDPR	0	.	GRCh37	2	192701015	192701015	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	88	0	ENST00000304141.4:c.912G>A	p.Glu304=	p.E304=	ENST00000304141	NM_004657.5	304	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS2313.1	912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCCTCTCG	NONE	.	.	hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240	.	.	ENSP00000305675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304141	Transcript	.	.	ENSG00000168497	10690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDPR_HUMAN	SDPR	HGNC	.	.	UPI00000373C3	SNV	SDPR,synonymous_variant,p.%3D,ENST00000304141,;	1242	88	67	SUCCESS
HECW2	57520	.	GRCh37	2	197080657	197080657	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	38	0	ENST00000260983.3:c.4539A>T	p.Ser1513=	p.S1513=	ENST00000260983	NM_020760.1	1513	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33354.1	4539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGTGAAGC	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000260983	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,synonymous_variant,p.%3D,ENST00000260983,;HECW2,synonymous_variant,p.%3D,ENST00000409111,;snoU13,upstream_gene_variant,,ENST00000459047,;	4722	38	54	SUCCESS
NYAP2	57624	.	GRCh37	2	226446820	226446820	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	55	262	0	ENST00000272907.6:c.687C>T	p.Ser229=	p.S229=	ENST00000272907	NM_020864.1	229	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS46529.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCCAGAT	NONE	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633	.	.	ENSP00000272907	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,synonymous_variant,p.%3D,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	1100	262	234	SUCCESS
COL6A3	1293	.	GRCh37	2	238255172	238255172	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	96	0	ENST00000295550.4:c.7066G>T	p.Gly2356Ter	p.G2356*	ENST00000295550	NM_004369.3	2356	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS33412.1	7066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCCCTTCT	NONE	.	.	hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83	.	.	ENSP00000295550	.	32/44	.	.	.	.	.	.	.	.	.	32/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,stop_gained,p.Gly2156Ter,ENST00000346358,;COL6A3,stop_gained,p.Gly2155Ter,ENST00000347401,;COL6A3,stop_gained,p.Gly1749Ter,ENST00000472056,;COL6A3,stop_gained,p.Gly2150Ter,ENST00000353578,;COL6A3,stop_gained,p.Gly2150Ter,ENST00000409809,;COL6A3,stop_gained,p.Gly2356Ter,ENST00000295550,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;	7519	96	80	SUCCESS
RTN4	57142	.	GRCh37	2	55252314	55252314	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	62	0	ENST00000337526.6:c.2921T>C	p.Val974Ala	p.V974A	ENST00000337526	NM_020532.4	974	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS42684.1	2921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCACAAGA	NONE	.	.	hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994	.	.	ENSP00000337838	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.58)	.	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,missense_variant,p.Val768Ala,ENST00000404909,;RTN4,missense_variant,p.Val768Ala,ENST00000405240,;RTN4,missense_variant,p.Val742Ala,ENST00000354474,;RTN4,missense_variant,p.Val974Ala,ENST00000337526,;RTN4,missense_variant,p.Val768Ala,ENST00000357376,;RTN4,missense_variant,p.Val768Ala,ENST00000394611,;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000357732,;RTN4,intron_variant,,ENST00000438462,;RTN4,intron_variant,,ENST00000317610,;RTN4,downstream_gene_variant,,ENST00000427710,;	3165	62	64	SUCCESS
SNRNP200	23020	.	GRCh37	2	96957523	96957523	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765309591	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	42	0	ENST00000323853.5:c.2276C>T	p.Thr759Ile	p.T759I	ENST00000323853	NM_014014.4	759	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2020.1	2276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGTGGAG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF55,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000317123	.	17/45	.	.	.	.	.	.	.	.	rs765309591	17/45	PASS	ENST00000323853	Transcript	.	.	ENSG00000144028	30859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	deleterious(0.03)	.	U520_HUMAN	SNRNP200	HGNC	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN	.	UPI0000207C53	SNV	SNRNP200,missense_variant,p.Thr759Ile,ENST00000323853,;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,upstream_gene_variant,,ENST00000480615,;	2354	42	37	SUCCESS
MGAT4A	11320	.	GRCh37	2	99279834	99279834	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	75	0	ENST00000264968.3:c.404-192A>T		p.*135*	ENST00000264968				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2036.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTTAACC	NONE	.	.	.	.	.	ENSP00000264968	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264968	Transcript	.	.	ENSG00000071073	7047	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT4A_HUMAN	MGAT4A	HGNC	.	.	UPI000003F051	SNV	MGAT4A,5_prime_UTR_variant,,ENST00000414521,;MGAT4A,intron_variant,,ENST00000393487,;MGAT4A,intron_variant,,ENST00000409391,;MGAT4A,intron_variant,,ENST00000264968,;MGAT4A,non_coding_transcript_exon_variant,,ENST00000492163,;MGAT4A,non_coding_transcript_exon_variant,,ENST00000461884,;MGAT4A,intron_variant,,ENST00000484936,;	.	75	40	SUCCESS
KY	339855	.	GRCh37	3	134338015	134338015	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	46	160	0	ENST00000423778.2:c.685G>T	p.Ala229Ser	p.A229S	ENST00000423778	NM_178554.4	229	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46920.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCATAGC	NONE	.	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31,Pfam_domain:PF01841,SMART_domains:SM00460,Superfamily_domains:SSF54001	.	.	ENSP00000397598	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000423778	Transcript	.	.	ENSG00000174611	26576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.329)	.	tolerated(0.12)	.	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,missense_variant,p.Ala229Ser,ENST00000503669,;KY,missense_variant,p.Ala229Ser,ENST00000423778,;KY,missense_variant,p.Ala208Ser,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;KY,non_coding_transcript_exon_variant,,ENST00000508041,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;	747	160	190	SUCCESS
RBP2	5948	.	GRCh37	3	139195311	139195311	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs754856421	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	83	1	ENST00000232217.2:c.-10G>A		p.*4*	ENST00000232217	NM_004164.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3109.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCACTGG	NONE	.	.	.	.	.	ENSP00000232217	.	1/4	.	.	.	.	.	.	.	.	rs754856421	1/4	PASS	ENST00000232217	Transcript	.	.	ENSG00000114113	9920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET2_HUMAN	RBP2	HGNC	D6RGE6_HUMAN,D6RB89_HUMAN	.	UPI000013C95E	SNV	RBP2,5_prime_UTR_variant,,ENST00000511956,;RBP2,5_prime_UTR_variant,,ENST00000232217,;RBP2,5_prime_UTR_variant,,ENST00000506825,;RP11-319G6.1,intron_variant,,ENST00000515247,;	48	84	106	SUCCESS
VEPH1	79674	.	GRCh37	3	157146119	157146120	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1240884977	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	117	36	104	0	ENST00000362010.2:c.687dup	p.Gln230ThrfsTer22	p.Q230Tfs*22	ENST00000362010	NM_001167912.1	229	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS3179.1	687-688	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTTGTTTTT	NONE	.	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Superfamily_domains:SSF48371	.	.	ENSP00000354919	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	insertion	VEPH1,frameshift_variant,p.Gln230ThrfsTer22,ENST00000362010,;VEPH1,frameshift_variant,p.Gln230ThrfsTer22,ENST00000392833,;VEPH1,frameshift_variant,p.Gln230ThrfsTer22,ENST00000392832,;VEPH1,frameshift_variant,p.Gln230ThrfsTer22,ENST00000543418,;VEPH1,frameshift_variant,p.Gln118ThrfsTer?,ENST00000479987,;VEPH1,non_coding_transcript_exon_variant,,ENST00000469007,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482685,;	995-996	104	153	SUCCESS
ATP13A4	84239	.	GRCh37	3	193159259	193159259	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1443793301	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	148	0	ENST00000342695.4:c.2435C>A	p.Pro812Gln	p.P812Q	ENST00000342695	NM_032279.2	812	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS3304.2	2435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGGCAGT	NONE	.	.	hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01657	.	.	ENSP00000339182	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	tolerated(0.14)	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Pro793Gln,ENST00000392443,;ATP13A4,missense_variant,p.Pro812Gln,ENST00000342695,;ATP13A4,missense_variant,p.Pro94Gln,ENST00000437904,;ATP13A4,missense_variant,p.Pro452Gln,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;ATP13A4,upstream_gene_variant,,ENST00000474776,;	2758	148	132	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913403	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	85	229	0	ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCTGGTG	SITE|p.S37F|c.110C>T|201,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S37A|c.109T>G|67,CODON|p.S37P|c.109T>C|30,CODON|p.S37C|c.110C>G|157,CODON|p.S37Y|c.110C>A|37,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41A|c.121A>G|828,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5666,COSM5679,COSM5662	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.962)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	390	229	230	SUCCESS
FLNB	2317	.	GRCh37	3	58116537	58116537	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs80356511	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	97	0	ENST00000295956.4:c.4292T>A	p.Leu1431Gln	p.L1431Q	ENST00000295956	NM_001457.3	1431	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS54599.1	4292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CGGGCTGGGCT	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	25/47	.	.	.	.	.	.	.	.	CM070931,rs80356511	25/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.649)	.	deleterious(0)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Leu1431Gln,ENST00000429972,;FLNB,missense_variant,p.Leu1431Gln,ENST00000295956,;FLNB,missense_variant,p.Leu1431Gln,ENST00000358537,;FLNB,missense_variant,p.Leu1431Gln,ENST00000490882,;FLNB,missense_variant,p.Leu1431Gln,ENST00000348383,;FLNB,missense_variant,p.Leu1262Gln,ENST00000493452,;FLNB,missense_variant,p.Leu1262Gln,ENST00000419752,;FLNB,missense_variant,p.Leu1431Gln,ENST00000357272,;FLNB,upstream_gene_variant,,ENST00000481470,;	4457	97	92	SUCCESS
TAPT1	202018	.	GRCh37	4	16165127	16165127	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	123	0	ENST00000405303.2:c.1508T>A	p.Ile503Asn	p.I503N	ENST00000405303	NM_153365.2	503	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS47030.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGATGGAG	NONE	.	.	hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4	.	.	ENSP00000385347	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000405303	Transcript	.	.	ENSG00000169762	26887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.06)	.	TAPT1_HUMAN	TAPT1	HGNC	B4DJJ3_HUMAN	.	UPI0000253B29	SNV	TAPT1,missense_variant,p.Ile503Asn,ENST00000405303,;TAPT1,missense_variant,p.Ile392Asn,ENST00000399920,;TAPT1,3_prime_UTR_variant,,ENST00000304584,;TAPT1,3_prime_UTR_variant,,ENST00000505603,;TAPT1,3_prime_UTR_variant,,ENST00000513782,;TAPT1,non_coding_transcript_exon_variant,,ENST00000503858,;TAPT1,non_coding_transcript_exon_variant,,ENST00000508886,;TAPT1,downstream_gene_variant,,ENST00000507728,;	1592	123	113	SUCCESS
RBPJ	3516	.	GRCh37	4	26322670	26322670	+	intron_variant	Intron	SNP	G	G	A	rs372013726	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	41	0	ENST00000342295.1:c.59+233G>A		p.*20*	ENST00000342295	NM_005349.3			0	C:0.0003	.	.	.	.	A	.	protein_coding	YES	CCDS3437.1	.	RADIA|MUSE	.	GACAGGGTAAG	NONE	byCluster	.	.	.	C:0	ENSP00000345206	.	.	.	.	.	.	.	.	.	.	rs372013726	.	PASS	ENST00000342295	Transcript	1	.	ENSG00000168214	5724	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUH_HUMAN	RBPJ	HGNC	D6RBQ8_HUMAN,D6RB37_HUMAN,D6RA45_HUMAN,D6R946_HUMAN	.	UPI000020BDF1	SNV	RBPJ,missense_variant,p.Gly7Glu,ENST00000348160,;RBPJ,splice_region_variant,,ENST00000355476,;RBPJ,splice_region_variant,,ENST00000509158,;RBPJ,intron_variant,,ENST00000345843,;RBPJ,intron_variant,,ENST00000506956,;RBPJ,intron_variant,,ENST00000512351,;RBPJ,intron_variant,,ENST00000342295,;RBPJ,intron_variant,,ENST00000361572,;RBPJ,intron_variant,,ENST00000510778,;RBPJ,intron_variant,,ENST00000512671,;RBPJ,intron_variant,,ENST00000514807,;RBPJ,upstream_gene_variant,,ENST00000514730,;RBPJ,upstream_gene_variant,,ENST00000507561,;RBPJ,upstream_gene_variant,,ENST00000505958,;RBPJ,upstream_gene_variant,,ENST00000507574,;RBPJ,upstream_gene_variant,,ENST00000514675,;RBPJ,splice_region_variant,,ENST00000511401,;RBPJ,splice_region_variant,,ENST00000515023,;RBPJ,missense_variant,p.Gly7Glu,ENST00000513182,;RBPJ,intron_variant,,ENST00000514380,;	.	41	26	SUCCESS
DTHD1	401124	.	GRCh37	4	36317997	36317997	+	synonymous_variant	Silent	SNP	C	C	T	rs1189740433	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	118	0	ENST00000456874.2:c.1854C>T	p.Val618=	p.V618=	ENST00000456874	NM_001170700.2	618	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54754.1	1854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTCGTTTA	NONE	.	.	hmmpanther:PTHR24199:SF7,hmmpanther:PTHR24199	.	.	ENSP00000401597	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000456874	Transcript	.	.	ENSG00000197057	37261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTHD1_HUMAN	DTHD1	HGNC	.	.	UPI00006C079E	SNV	DTHD1,synonymous_variant,p.%3D,ENST00000456874,;DTHD1,synonymous_variant,p.%3D,ENST00000507598,;DTHD1,synonymous_variant,p.%3D,ENST00000357504,;RP11-431M7.2,intron_variant,,ENST00000504344,;DTHD1,non_coding_transcript_exon_variant,,ENST00000506008,;	1912	118	86	SUCCESS
PDS5A	23244	.	GRCh37	4	39876002	39876002	+	synonymous_variant	Silent	SNP	T	T	A	rs1391453193	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	48	0	ENST00000303538.8:c.2184A>T	p.Ala728=	p.A728=	ENST00000303538	NM_001100399.1	728	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47045.1	2184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTGCTTT	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000303427	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,synonymous_variant,p.%3D,ENST00000303538,;PDS5A,synonymous_variant,p.%3D,ENST00000507020,;PDS5A,non_coding_transcript_exon_variant,,ENST00000503696,;	2724	48	62	SUCCESS
ZNF595	152687	.	GRCh37	4	59340	59340	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	258	14	294	0	ENST00000526473.2:c.21G>T	p.Arg7Ser	p.R7S	ENST00000526473		7	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	.	21	MUTECT|MUSE	.	TTCAGGGATGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR23232:SF44,hmmpanther:PTHR23232,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000437878	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000526473	Transcript	.	.	ENSG00000197701	27196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.392)	.	deleterious_low_confidence(0.02)	.	.	ZNF595	HGNC	F5H663_HUMAN	.	UPI00020651F4	SNV	ZNF595,missense_variant,p.Arg7Ser,ENST00000526473,;ZNF595,missense_variant,p.Arg7Ser,ENST00000509152,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;ZNF595,intron_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;	194	294	272	SUCCESS
SORCS2	57537	.	GRCh37	4	7726889	7726889	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs756446383	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	55	0	ENST00000507866.2:c.2620C>T	p.Gln874Ter	p.Q874*	ENST00000507866	NM_020777.2	874	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47008.1	2620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCAGGCC	NONE	.	.	PROSITE_profiles:PS50093,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9	.	.	ENSP00000422185	.	20/27	.	.	.	.	.	.	.	.	rs756446383	20/27	PASS	ENST00000507866	Transcript	.	.	ENSG00000184985	16698	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC2_HUMAN	SORCS2	HGNC	.	.	UPI0000EE6E4F	SNV	SORCS2,stop_gained,p.Gln702Ter,ENST00000329016,;SORCS2,stop_gained,p.Gln874Ter,ENST00000507866,;	2729	55	51	SUCCESS
TIGD2	166815	.	GRCh37	4	90035516	90035516	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768437030	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	89	0	ENST00000317005.2:c.1391A>G	p.Lys464Arg	p.K464R	ENST00000317005	NM_145715.2	464	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS3633.1	1391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAAGAGTA	NONE	.	.	hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF220	.	.	ENSP00000317170	.	1/1	.	.	.	.	.	.	.	.	rs768437030	1/1	PASS	ENST00000317005	Transcript	.	.	ENSG00000180346	18333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.05)	.	TIGD2_HUMAN	TIGD2	HGNC	.	.	UPI000013FF3C	SNV	TIGD2,missense_variant,p.Lys464Arg,ENST00000317005,;RP11-84C13.2,upstream_gene_variant,,ENST00000603220,;RP11-84C13.1,downstream_gene_variant,,ENST00000603357,;FAM13A,upstream_gene_variant,,ENST00000502459,;	1549	89	73	SUCCESS
KCNN2	3781	.	GRCh37	5	113798833	113798833	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	55	258	0	ENST00000264773.3:c.1089C>T	p.Asp363=	p.D363=	ENST00000264773	NM_001278204.1	363	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS4114.1	1089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGACATGGT	NONE	.	.	hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000427120	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000512097	Transcript	.	.	ENSG00000080709	6291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNN2_HUMAN	KCNN2	HGNC	.	.	UPI000013D56A	SNV	KCNN2,synonymous_variant,p.%3D,ENST00000512097,;KCNN2,synonymous_variant,p.%3D,ENST00000503706,;KCNN2,synonymous_variant,p.%3D,ENST00000264773,;KCNN2,non_coding_transcript_exon_variant,,ENST00000507750,;KCNN2,synonymous_variant,p.%3D,ENST00000505491,;	2107	258	273	SUCCESS
CTNND2	1501	.	GRCh37	5	11384929	11384929	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	23	0	ENST00000304623.8:c.1025C>T	p.Ser342Phe	p.S342F	ENST00000304623	NM_001332.2	342	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS3881.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGAGATG	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	deleterious(0.01)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Ser251Phe,ENST00000511377,;CTNND2,missense_variant,p.Ser342Phe,ENST00000304623,;CTNND2,missense_variant,p.Ser342Phe,ENST00000359640,;CTNND2,intron_variant,,ENST00000502551,;CTNND2,intron_variant,,ENST00000503622,;CTNND2,intron_variant,,ENST00000458100,;CTNND2,downstream_gene_variant,,ENST00000513598,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506735,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,downstream_gene_variant,,ENST00000514132,;CTNND2,upstream_gene_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;CTNND2,intron_variant,,ENST00000513588,;CTNND2,intron_variant,,ENST00000504499,;	1215	23	28	SUCCESS
FAT2	2196	.	GRCh37	5	150885501	150885501	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	14	0	ENST00000261800.5:c.12675C>T	p.Gly4225=	p.G4225=	ENST00000261800	NM_001447.2	4225	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4317.1	12675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAGCCCCC	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37	.	.	ENSP00000261800	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;FAT2,synonymous_variant,p.%3D,ENST00000520200,;CTC-251D13.1,upstream_gene_variant,,ENST00000606930,;	12688	14	26	SUCCESS
LCP2	3937	.	GRCh37	5	169689860	169689860	+	frameshift_variant	Frame_Shift_Ins	INS	C	C	TT	rs373086683	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	33	155	0	ENST00000046794.5:c.804delinsAA	p.Ile269AsnfsTer27	p.I269Nfs*27	ENST00000046794	NM_005565.3	268	tcG/tcAA	0	A:0.0003	.	.	.	.	TT	S/SX	protein_coding	YES	CCDS47339.1	804	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	TGGAATCGAGGG	NONE	byCluster	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1	.	A:0.0004	ENSP00000046794	.	12/21	.	.	.	.	.	.	.	.	rs373086683	12/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	substitution	LCP2,frameshift_variant,p.Ile64AsnfsTer27,ENST00000521416,;LCP2,frameshift_variant,p.Ile36AsnfsTer27,ENST00000520344,;LCP2,frameshift_variant,p.Ile269AsnfsTer27,ENST00000046794,;LCP2,upstream_gene_variant,,ENST00000523369,;	1420	155	200	SUCCESS
HRH2	3274	.	GRCh37	5	175110734	175110734	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	14	192	0	ENST00000231683.2:c.498G>A	p.Lys166=	p.K166=	ENST00000231683	NM_022304.2	166	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS47344.1	498	MUTECT|MUSE	.	AGCAAGGGCAA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,PROSITE_profiles:PS50262	.	.	ENSP00000366506	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377291	Transcript	.	.	ENSG00000113749	5183	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HRH2_HUMAN	HRH2	HGNC	.	.	UPI00001B2326	SNV	HRH2,synonymous_variant,p.%3D,ENST00000377291,;HRH2,synonymous_variant,p.%3D,ENST00000231683,;	1149	192	200	SUCCESS
CDH18	1016	.	GRCh37	5	19747259	19747259	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs374030596	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	26	143	0	ENST00000274170.4:c.315T>A	p.Asp105Glu	p.D105E	ENST00000274170		105	gaT/gaA	0	G:0.0002	G:0	.	G:0	.	T	D/E	protein_coding	YES	CCDS3889.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTATCGTC	BUFFER|p.D105N|c.313G>A|4,BUFFER|p.D105N|c.313G>A|4	byCluster|by1000G	.	Low_complexity_(Seg):seg,Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	G:0	G:0	ENSP00000425093	G:0.001	6/15	.	.	.	.	.	.	.	.	rs374030596	6/15	PASS	ENST00000507958	Transcript	.	G:0.0002	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	G:0	tolerated(1)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Asp105Glu,ENST00000274170,;CDH18,missense_variant,p.Asp105Glu,ENST00000506372,;CDH18,missense_variant,p.Asp105Glu,ENST00000507958,;CDH18,missense_variant,p.Asp105Glu,ENST00000502796,;CDH18,missense_variant,p.Asp51Glu,ENST00000515257,;CDH18,missense_variant,p.Asp105Glu,ENST00000382275,;CDH18,missense_variant,p.Asp105Glu,ENST00000511273,;CDH18,non_coding_transcript_exon_variant,,ENST00000508350,;	1306	143	132	SUCCESS
CDH12	1010	.	GRCh37	5	21765180	21765180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	58	0	ENST00000382254.1:c.1422T>A	p.Asn474Lys	p.N474K	ENST00000382254	NM_004061.3	474	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS3890.1	1422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATATTGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000371689	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000382254	Transcript	.	.	ENSG00000154162	1751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	CAD12_HUMAN	CDH12	HGNC	B3KRT0_HUMAN	.	UPI00000622EB	SNV	CDH12,missense_variant,p.Asn434Lys,ENST00000522262,;CDH12,missense_variant,p.Asn474Lys,ENST00000504376,;CDH12,missense_variant,p.Asn474Lys,ENST00000382254,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	2509	58	72	SUCCESS
MROH2B	133558	.	GRCh37	5	41042223	41042223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	80	0	ENST00000399564.4:c.1924G>T	p.Ala642Ser	p.A642S	ENST00000399564	NM_173489.4	642	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47202.1	1924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCAGTCA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371	.	.	ENSP00000382476	.	19/42	.	.	.	.	.	.	.	.	.	19/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.21)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Ala197Ser,ENST00000506092,;MROH2B,missense_variant,p.Ala642Ser,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	2375	80	69	SUCCESS
BDP1	55814	.	GRCh37	5	70840961	70840961	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774039916	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	92	0	ENST00000358731.4:c.6659A>T	p.Asp2220Val	p.D2220V	ENST00000358731	NM_018429.2	2220	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS43328.1	6659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGATAGGG	NONE	.	.	hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929	.	.	ENSP00000351575	.	32/39	.	.	.	.	.	.	.	.	rs774039916,COSM738302	32/39	PASS	ENST00000358731	Transcript	.	.	ENSG00000145734	13652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.226)	.	deleterious(0.02)	0,1	BDP1_HUMAN	BDP1	HGNC	.	.	UPI000020CA90	SNV	BDP1,missense_variant,p.Asp2220Val,ENST00000358731,;BDP1,missense_variant,p.Asp356Val,ENST00000380675,;BDP1,missense_variant,p.Asp242Val,ENST00000525844,;BDP1,missense_variant,p.Asp476Val,ENST00000514903,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;	6922	92	74	SUCCESS
GPR98	0	.	GRCh37	5	89943506	89943506	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1334293891	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	119	0	ENST00000405460.2:c.3214A>G	p.Ile1072Val	p.I1072V	ENST00000405460	NM_032119.3	1072	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS47246.1	3214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCATATCC	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	17/90	.	.	.	.	.	.	.	.	.	17/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ile1072Val,ENST00000405460,;GPR98,missense_variant,p.Ile661Val,ENST00000504142,;GPR98,downstream_gene_variant,,ENST00000512205,;	3310	119	99	SUCCESS
BVES	11149	.	GRCh37	6	105573357	105573357	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	48	125	0	ENST00000314641.5:c.448T>A	p.Cys150Ser	p.C150S	ENST00000314641	NM_001199563.1	150	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS5051.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAAAACT	NONE	.	.	Superfamily_domains:SSF51206,Pfam_domain:PF04831,Gene3D:2.60.120.10,hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101	.	.	ENSP00000313172	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0.03)	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,missense_variant,p.Cys150Ser,ENST00000336775,;BVES,missense_variant,p.Cys150Ser,ENST00000446408,;BVES,missense_variant,p.Cys150Ser,ENST00000314641,;	665	125	144	SUCCESS
FIG4	9896	.	GRCh37	6	110086337	110086337	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	49	134	1	ENST00000230124.3:c.1556A>G	p.Asn519Ser	p.N519S	ENST00000230124	NM_014845.5	519	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS5078.1	1556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAATCTAC	NONE	.	.	PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9	.	.	ENSP00000230124	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.47)	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,missense_variant,p.Asn242Ser,ENST00000441478,;FIG4,missense_variant,p.Asn519Ser,ENST00000230124,;FIG4,upstream_gene_variant,,ENST00000415980,;	1680	136	142	SUCCESS
TMEM200A	114801	.	GRCh37	6	130761614	130761614	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	53	0	ENST00000296978.3:c.48del	p.Arg16SerfsTer52	p.R16Sfs*52	ENST00000296978	NM_001258277.1	16	aGg/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS5140.1	47	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAAAGGCAAG	NONE	.	.	hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0,Pfam_domain:PF10177	.	.	ENSP00000376224	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392429	Transcript	.	.	ENSG00000164484	21075	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	T200A_HUMAN	TMEM200A	HGNC	B4DG12_HUMAN,A8K2A1_HUMAN	.	UPI000000DA85	deletion	TMEM200A,frameshift_variant,p.Arg16SerfsTer52,ENST00000392429,;TMEM200A,frameshift_variant,p.Arg16SerfsTer52,ENST00000545622,;TMEM200A,frameshift_variant,p.Arg16SerfsTer52,ENST00000296978,;	2425	53	70	SUCCESS
HIVEP2	3097	.	GRCh37	6	143095836	143095836	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	80	170	0	ENST00000012134.2:c.40T>G	p.Ser14Ala	p.S14A	ENST00000012134		14	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS43510.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGGTAG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53	.	.	ENSP00000356575	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367603	Transcript	.	.	ENSG00000010818	4921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	tolerated(0.07)	.	ZEP2_HUMAN	HIVEP2	HGNC	B4DKE9_HUMAN	.	UPI00004708DD	SNV	HIVEP2,missense_variant,p.Ser14Ala,ENST00000367603,;HIVEP2,missense_variant,p.Ser14Ala,ENST00000012134,;HIVEP2,missense_variant,p.Ser14Ala,ENST00000367604,;HIVEP2,downstream_gene_variant,,ENST00000474532,;	783	170	217	SUCCESS
CCHCR1	54535	.	GRCh37	6	31113531	31113531	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	78	0	ENST00000376266.5:c.1368G>T	p.Gln456His	p.Q456H	ENST00000376266	NM_019052.3	456	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS43445.1	1635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCTGGGC	NONE	.	.	hmmpanther:PTHR23161:SF4,hmmpanther:PTHR23161,Pfam_domain:PF07111	.	.	ENSP00000379566	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000396268	Transcript	.	.	ENSG00000204536	13930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0)	.	CCHCR_HUMAN	CCHCR1	HGNC	E9PGB6_HUMAN,E7EQE8_HUMAN,E7EQC5_HUMAN,D6RDI7_HUMAN,D6RD84_HUMAN,D6RBG1_HUMAN,D6RB88_HUMAN,B4DIA2_HUMAN,B0V092_HUMAN,A9XAL3_HUMAN,A9XAG5_HUMAN,A9XAF5_HUMAN,A9XAC7_HUMAN,A2ABH4_HUMAN,A2ABH3_HUMAN	.	UPI0000E5ACDF	SNV	CCHCR1,missense_variant,p.Gln509His,ENST00000451521,;CCHCR1,missense_variant,p.Gln545His,ENST00000396268,;CCHCR1,missense_variant,p.Gln456His,ENST00000376266,;CCHCR1,intron_variant,,ENST00000396263,;CCHCR1,downstream_gene_variant,,ENST00000480060,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000509552,;CCHCR1,downstream_gene_variant,,ENST00000508852,;CCHCR1,downstream_gene_variant,,ENST00000512418,;CCHCR1,upstream_gene_variant,,ENST00000467553,;CCHCR1,upstream_gene_variant,,ENST00000486060,;CCHCR1,downstream_gene_variant,,ENST00000507459,;POLR2LP,downstream_gene_variant,,ENST00000444785,;	1824	78	66	SUCCESS
HSPA1L	3305	.	GRCh37	6	31778986	31778986	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	81	0	ENST00000375654.4:c.764T>G	p.Ile255Ser	p.I255S	ENST00000375654	NM_005527.3	255	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS34413.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGATGTCC	NONE	.	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.90.640.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.486)	.	deleterious_low_confidence(0.01)	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,missense_variant,p.Ile255Ser,ENST00000417199,;HSPA1L,missense_variant,p.Ile255Ser,ENST00000375654,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000375651,;LSM2,upstream_gene_variant,,ENST00000375661,;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	954	82	69	SUCCESS
CPA4	51200	.	GRCh37	7	129951882	129951882	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	86	0	ENST00000222482.4:c.998A>T	p.Lys333Met	p.K333M	ENST00000222482	NM_016352.3	333	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS5818.1	998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAAGGTGG	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF52,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000222482	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000222482	Transcript	.	.	ENSG00000128510	15740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.05)	.	CBPA4_HUMAN	CPA4	HGNC	C9J7D6_HUMAN,B7Z5J4_HUMAN,A4D1M3_HUMAN	.	UPI0000048F00	SNV	CPA4,missense_variant,p.Lys300Met,ENST00000445470,;CPA4,missense_variant,p.Lys333Met,ENST00000222482,;CPA4,missense_variant,p.Lys229Met,ENST00000493259,;CPA4,non_coding_transcript_exon_variant,,ENST00000488025,;	1026	86	108	SUCCESS
CPVL	54504	.	GRCh37	7	29103758	29103758	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	4	68	0	ENST00000265394.5:c.1056A>C	p.Gly352=	p.G352=	ENST00000265394	NM_031311.3	352	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS5419.1	1056	MUTECT|MUSE	.	ATAGTTCCATC	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00450,Gene3D:3.40.50.1820,hmmpanther:PTHR11802	.	.	ENSP00000387164	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000409850	Transcript	.	.	ENSG00000106066	14399	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPVL_HUMAN	CPVL	HGNC	Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN	.	UPI0000048F1B	SNV	CPVL,synonymous_variant,p.%3D,ENST00000265394,;CPVL,synonymous_variant,p.%3D,ENST00000432534,;CPVL,synonymous_variant,p.%3D,ENST00000409850,;CPVL,synonymous_variant,p.%3D,ENST00000396276,;CPVL,intron_variant,,ENST00000455893,;CPVL,downstream_gene_variant,,ENST00000448959,;	1703	68	113	SUCCESS
C7orf72	0	.	GRCh37	7	50136120	50136120	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	83	0	ENST00000297001.6:c.439A>G	p.Thr147Ala	p.T147A	ENST00000297001	NM_001161834.2	147	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47585.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACACAGGA	NONE	.	.	.	.	.	ENSP00000297001	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000297001	Transcript	.	.	ENSG00000164500	22564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.6)	.	CG072_HUMAN	C7orf72	HGNC	.	.	UPI00001D7424	SNV	C7orf72,missense_variant,p.Thr147Ala,ENST00000297001,;ZPBP,intron_variant,,ENST00000450231,;ZPBP,upstream_gene_variant,,ENST00000419417,;ZPBP,upstream_gene_variant,,ENST00000046087,;ZPBP,upstream_gene_variant,,ENST00000413331,;	489	83	90	SUCCESS
GATSL2	0	.	GRCh37	7	74824182	74824182	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	88	281	2	ENST00000426327.3:c.184+1G>A		p.X62_splice	ENST00000426327	NM_001145064.1	62		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47616.1	.	RADIA|VARSCANS	.	ACTTACCTAGG	NONE	.	.	.	.	.	ENSP00000452571	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000426327	Transcript	.	.	ENSG00000198750	37073	.	.	HIGH	2/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GATL2_HUMAN	GATSL2	HGNC	.	.	UPI000013F134	SNV	GATSL2,splice_donor_variant,,ENST00000426327,;GATSL2,splice_donor_variant,,ENST00000332301,;	.	283	341	SUCCESS
GSAP	54103	.	GRCh37	7	76942835	76942835	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	37	0	ENST00000257626.7:c.2241G>T	p.Leu747=	p.L747=	ENST00000257626	NM_017439.3	747	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34672.2	2241	MUTECT|MUSE	.	AATTTCAGTTT	NONE	.	.	hmmpanther:PTHR13630:SF1,hmmpanther:PTHR13630,Pfam_domain:PF14959	.	.	ENSP00000257626	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000257626	Transcript	.	.	ENSG00000186088	28042	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GSAP_HUMAN	GSAP	HGNC	B7ZL33_HUMAN	.	UPI000015FEE3	SNV	GSAP,synonymous_variant,p.%3D,ENST00000257626,;GSAP,synonymous_variant,p.%3D,ENST00000441833,;GSAP,downstream_gene_variant,,ENST00000415112,;GSAP,non_coding_transcript_exon_variant,,ENST00000440473,;CCDC146,intron_variant,,ENST00000488998,;GSAP,non_coding_transcript_exon_variant,,ENST00000474686,;GSAP,non_coding_transcript_exon_variant,,ENST00000449779,;GSAP,non_coding_transcript_exon_variant,,ENST00000491796,;GSAP,non_coding_transcript_exon_variant,,ENST00000482866,;	2320	37	15	SUCCESS
GNAI1	2770	.	GRCh37	7	79833109	79833109	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	35	92	0	ENST00000351004.3:c.551T>C	p.Ile184Thr	p.I184T	ENST00000351004	NM_002069.5	184	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS5595.1	551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATTGTTG	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF173,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00318	.	.	ENSP00000343027	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000351004	Transcript	.	.	ENSG00000127955	4384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	GNAI1_HUMAN	GNAI1	HGNC	O43383_HUMAN,C9JPP4_HUMAN,C9JL77_HUMAN,C9J2Z2_HUMAN	.	UPI000000124A	SNV	GNAI1,missense_variant,p.Ile132Thr,ENST00000457358,;GNAI1,missense_variant,p.Ile184Thr,ENST00000351004,;GNAI1,missense_variant,p.Ile132Thr,ENST00000418742,;	924	92	133	SUCCESS
CACNA2D1	781	.	GRCh37	7	81600131	81600131	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	29	0	ENST00000356253.5:c.2178-78C>T		p.*726*	ENST00000356253				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5598.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGAGAAG	NONE	.	.	.	.	.	ENSP00000349320	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODIFIER	26/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,5_prime_UTR_variant,,ENST00000535308,;CACNA2D1,intron_variant,,ENST00000356253,;CACNA2D1,intron_variant,,ENST00000443883,;CACNA2D1,intron_variant,,ENST00000356860,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000486539,;	.	29	32	SUCCESS
KIAA1324L	0	.	GRCh37	7	86526919	86526919	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs553991387	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	90	0	ENST00000450689.2:c.2588G>A	p.Cys863Tyr	p.C863Y	ENST00000450689	NM_001142749.2	863	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47632.1	2588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTACACCCA	NONE	byCluster	.	hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Superfamily_domains:SSF50911	.	.	ENSP00000413445	.	19/22	.	.	.	.	.	.	.	.	rs553991387	19/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,missense_variant,p.Cys696Tyr,ENST00000416314,;KIAA1324L,missense_variant,p.Cys623Tyr,ENST00000297222,;KIAA1324L,missense_variant,p.Cys792Tyr,ENST00000444627,;KIAA1324L,missense_variant,p.Cys824Tyr,ENST00000423294,;KIAA1324L,missense_variant,p.Cys863Tyr,ENST00000450689,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,upstream_gene_variant,,ENST00000480216,;	2774	90	109	SUCCESS
CSMD3	114788	.	GRCh37	8	113240991	113240991	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	17	34	0	ENST00000297405.5:c.10958A>C	p.Lys3653Thr	p.K3653T	ENST00000297405	NM_198123.1	3653	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS6315.1	10958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTTTATAA	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44	.	.	ENSP00000297405	.	70/71	.	.	.	.	.	.	.	.	.	70/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Lys3583Thr,ENST00000352409,;CSMD3,missense_variant,p.Lys3484Thr,ENST00000455883,;CSMD3,missense_variant,p.Lys3653Thr,ENST00000297405,;CSMD3,missense_variant,p.Lys2923Thr,ENST00000339701,;CSMD3,missense_variant,p.Lys3613Thr,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	11203	34	29	SUCCESS
TG	7038	.	GRCh37	8	133906037	133906037	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs61736740	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	94	209	1	ENST00000220616.4:c.2864A>T	p.Glu955Val	p.E955V	ENST00000220616	NM_003235.4	955	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34944.1	2864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGAGAGTT	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	11/48	.	.	.	.	.	.	.	.	rs61736740	11/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	deleterious(0.04)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Glu955Val,ENST00000220616,;TG,missense_variant,p.Glu955Val,ENST00000377869,;TG,upstream_gene_variant,,ENST00000518505,;TG,upstream_gene_variant,,ENST00000518097,;TG,upstream_gene_variant,,ENST00000523756,;	2904	210	216	SUCCESS
LOXL2	4017	.	GRCh37	8	23217774	23217774	+	synonymous_variant	Silent	SNP	G	G	A	rs537778489	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	46	0	ENST00000389131.3:c.360C>T	p.Pro120=	p.P120=	ENST00000389131	NM_002318.2	120	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34864.1	360	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGGGCCC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF10,PROSITE_profiles:PS50287	.	.	ENSP00000373783	.	3/14	.	.	.	.	.	.	.	.	rs537778489	3/14	PASS	ENST00000389131	Transcript	.	.	ENSG00000134013	6666	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LOXL2_HUMAN	LOXL2	HGNC	E5RJL2_HUMAN,E5RI22_HUMAN,E5RFE2_HUMAN	.	UPI000012E7AB	SNV	LOXL2,synonymous_variant,p.%3D,ENST00000524144,;LOXL2,synonymous_variant,p.%3D,ENST00000389131,;LOXL2,synonymous_variant,p.%3D,ENST00000524168,;LOXL2,synonymous_variant,p.%3D,ENST00000520871,;LOXL2,synonymous_variant,p.%3D,ENST00000518083,;LOXL2,intron_variant,,ENST00000523833,;RP11-177H13.2,intron_variant,,ENST00000519692,;	730	46	61	SUCCESS
SVEP1	79987	.	GRCh37	9	113312196	113312196	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	33	193	0	ENST00000374469.1:c.651G>A	p.Glu217=	p.E217=	ENST00000374469		217	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS48004.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCTCCTT	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,PROSITE_profiles:PS50234	.	.	ENSP00000384917	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,synonymous_variant,p.%3D,ENST00000401783,;SVEP1,synonymous_variant,p.%3D,ENST00000374469,;SVEP1,synonymous_variant,p.%3D,ENST00000302728,;SVEP1,synonymous_variant,p.%3D,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	1057	193	171	SUCCESS
UCK1	83549	.	GRCh37	9	134405967	134405967	+	synonymous_variant	Silent	SNP	C	C	T	rs200720505	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	48	189	0	ENST00000372215.4:c.174G>A	p.Lys58=	p.K58=	ENST00000372215	NM_031432.2	58	aaG/aaA	0	.	T:0	.	T:0	.	T	K	protein_coding	YES	CCDS59152.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCTTCCG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF00485,hmmpanther:PTHR10285:SF66,hmmpanther:PTHR10285	T:0.001	.	ENSP00000361285	T:0	2/7	.	.	.	.	.	.	.	.	rs200720505	2/7	PASS	ENST00000372211	Transcript	.	T:0.0002	ENSG00000130717	14859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	UCK1	HGNC	Q5JT09_HUMAN	.	UPI00004A2DB7	SNV	UCK1,synonymous_variant,p.%3D,ENST00000372210,;UCK1,synonymous_variant,p.%3D,ENST00000372211,;UCK1,synonymous_variant,p.%3D,ENST00000372215,;UCK1,synonymous_variant,p.%3D,ENST00000372208,;UCK1,non_coding_transcript_exon_variant,,ENST00000459858,;UCK1,non_coding_transcript_exon_variant,,ENST00000494584,;UCK1,upstream_gene_variant,,ENST00000484876,;UCK1,upstream_gene_variant,,ENST00000482398,;UCK1,synonymous_variant,p.%3D,ENST00000491309,;	215	189	208	SUCCESS
KIAA2026	158358	.	GRCh37	9	5922603	5922603	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	95	0	ENST00000399933.3:c.3393T>C	p.Gly1131=	p.G1131=	ENST00000399933	NM_001017969.2	1131	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	.	3393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTACCTTT	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,synonymous_variant,p.%3D,ENST00000381461,;KIAA2026,synonymous_variant,p.%3D,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	3393	95	87	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84531871	84531871	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	124	0	ENST00000527857.1:n.1893T>C		p.*631*	ENST00000527857				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTATGCCAT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	1893	124	117	SUCCESS
RAP2C	57826	.	GRCh37	X	131348421	131348421	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	95	0	ENST00000342983.2:c.327C>G	p.Val109=	p.V109=	ENST00000342983	NM_021183.4	109	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS14632.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGACTTT	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF200,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000340274	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000342983	Transcript	.	.	ENSG00000123728	21165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2C_HUMAN	RAP2C	HGNC	.	.	UPI00000236AB	SNV	RAP2C,synonymous_variant,p.%3D,ENST00000370874,;RAP2C,synonymous_variant,p.%3D,ENST00000342983,;RAP2C-AS1,upstream_gene_variant,,ENST00000421483,;RAP2C-AS1,upstream_gene_variant,,ENST00000441399,;RAP2C,non_coding_transcript_exon_variant,,ENST00000460462,;RAP2C,downstream_gene_variant,,ENST00000490400,;	1074	95	68	SUCCESS
KIAA2022	0	.	GRCh37	X	73960550	73960550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	53	0	ENST00000055682.6:c.3842G>T	p.Gly1281Val	p.G1281V	ENST00000055682	NM_001008537.2	1281	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS35337.1	3842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTCCAGAA	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.502)	.	deleterious(0)	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,missense_variant,p.Gly1281Val,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	4454	53	42	SUCCESS
DCLRE1A	9937	.	GRCh37	10	115609989	115609989	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	67	139	0	ENST00000361384.2:c.875A>G	p.Asp292Gly	p.D292G	ENST00000361384	NM_014881.4	292	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7584.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGTCATTT	NONE	.	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6	.	.	ENSP00000355185	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000361384	Transcript	.	.	ENSG00000198924	17660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.03)	.	DCR1A_HUMAN	DCLRE1A	HGNC	.	.	UPI000006EFFE	SNV	DCLRE1A,missense_variant,p.Asp292Gly,ENST00000361384,;DCLRE1A,missense_variant,p.Asp292Gly,ENST00000369305,;NHLRC2,upstream_gene_variant,,ENST00000369301,;DCLRE1A,downstream_gene_variant,,ENST00000476112,;NHLRC2,upstream_gene_variant,,ENST00000468890,;	1793	140	215	SUCCESS
CHST15	51363	.	GRCh37	10	125769678	125769678	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	23	0	ENST00000346248.5:c.1673G>A	p.Trp558Ter	p.W558*	ENST00000346248	NM_015892.4	558	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7638.1	1673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCACGCA	NONE	.	.	hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333947	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000346248	Transcript	.	.	ENSG00000182022	18137	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTF_HUMAN	CHST15	HGNC	.	.	UPI000004D06B	SNV	CHST15,stop_gained,p.Trp558Ter,ENST00000435907,;CHST15,stop_gained,p.Trp558Ter,ENST00000346248,;	2316	23	75	SUCCESS
GPRIN2	9721	.	GRCh37	10	46999457	46999457	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782779313	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	34	0	ENST00000374314.4:c.577C>G	p.Gln193Glu	p.Q193E	ENST00000374314		193	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS31192.1	577	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTCAGTTG	NONE	.	.	hmmpanther:PTHR15718	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	rs782779313	1/1	PASS	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.225)	.	deleterious(0.03)	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,missense_variant,p.Gln193Glu,ENST00000374314,;GPRIN2,missense_variant,p.Gln193Glu,ENST00000374317,;	1532	34	51	SUCCESS
GPRIN2	9721	.	GRCh37	10	47000008	47000008	+	synonymous_variant	Silent	SNP	G	G	T	rs111800394	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	13	74	0	ENST00000374314.4:c.1128G>T	p.Pro376=	p.P376=	ENST00000374314		376	ccG/ccT	0	.	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS31192.1	1128	MUTECT|VARSCANS	.	GTGCCGTCCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15718,Pfam_domain:PF15235	A:0	.	ENSP00000363433	A:0.001	1/1	.	.	.	.	.	.	.	.	rs111800394,COSM3397139	1/1	PASS	ENST00000374314	Transcript	.	A:0.0002	ENSG00000204175	23730	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,synonymous_variant,p.%3D,ENST00000374314,;GPRIN2,synonymous_variant,p.%3D,ENST00000374317,;	2083	74	162	SUCCESS
KIF20B	9585	.	GRCh37	10	91477208	91477209	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	259	58	454	0	ENST00000371728.3:c.1081_1082del	p.Gln361AspfsTer2	p.Q361Dfs*2	ENST00000371728	NM_001284259.1	360	ttACag/ttag	0	.	.	.	.	.	-	LQ/LX	protein_coding	YES	CCDS7407.1	1080-1081	INDELOCATOR*|VARSCANI*|PINDEL	.	AATATTACAGATT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR23165,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260753	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	deletion	KIF20B,frameshift_variant,p.Gln361AspfsTer2,ENST00000371728,;KIF20B,frameshift_variant,p.Gln361AspfsTer2,ENST00000416354,;KIF20B,frameshift_variant,p.Gln361AspfsTer2,ENST00000260753,;KIF20B,frameshift_variant,p.Gln361AspfsTer2,ENST00000394289,;	1152-1153	454	317	SUCCESS
CADM1	23705	.	GRCh37	11	115085443	115085443	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	24	336	0	ENST00000452722.3:c.879G>C	p.Leu293=	p.L293=	ENST00000452722	NM_014333.3	293	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8373.1	879	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACAGTAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000395359	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000452722	Transcript	.	.	ENSG00000182985	5951	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CADM1_HUMAN	CADM1	HGNC	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN	.	UPI0000049C25	SNV	CADM1,synonymous_variant,p.%3D,ENST00000452722,;CADM1,synonymous_variant,p.%3D,ENST00000331581,;CADM1,synonymous_variant,p.%3D,ENST00000536727,;CADM1,synonymous_variant,p.%3D,ENST00000545380,;CADM1,synonymous_variant,p.%3D,ENST00000542447,;CADM1,synonymous_variant,p.%3D,ENST00000537058,;CADM1,downstream_gene_variant,,ENST00000542450,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,upstream_gene_variant,,ENST00000441886,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;CADM1,non_coding_transcript_exon_variant,,ENST00000540373,;	900	336	146	SUCCESS
IGSF9B	22997	.	GRCh37	11	133814256	133814256	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	66	0	ENST00000321016.8:c.268G>T	p.Ala90Ser	p.A90S	ENST00000321016		90	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS61010.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCCCGGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000436552	.	3/20	.	.	.	.	.	.	.	.	COSM3979404	3/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.133)	.	deleterious(0.05)	1	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Ala137Ser,ENST00000526663,;IGSF9B,missense_variant,p.Ala80Ser,ENST00000533160,;IGSF9B,missense_variant,p.Ala90Ser,ENST00000533871,;IGSF9B,missense_variant,p.Ala90Ser,ENST00000321016,;	499	66	135	SUCCESS
NAT10	55226	.	GRCh37	11	34137375	34137375	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	55	268	0	ENST00000257829.3:c.501G>A	p.Val167=	p.V167=	ENST00000257829	NM_024662.2	167	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7889.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTGCATTC	NONE	.	.	Pfam_domain:PF08351,hmmpanther:PTHR10925	.	.	ENSP00000257829	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000257829	Transcript	.	.	ENSG00000135372	29830	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAT10_HUMAN	NAT10	HGNC	E9PJN6_HUMAN,E7ESU4_HUMAN	.	UPI000013CF8E	SNV	NAT10,synonymous_variant,p.%3D,ENST00000531159,;NAT10,synonymous_variant,p.%3D,ENST00000527971,;NAT10,synonymous_variant,p.%3D,ENST00000257829,;NAT10,downstream_gene_variant,,ENST00000529523,;	707	268	196	SUCCESS
C1QTNF4	114900	.	GRCh37	11	47611682	47611682	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	9	0	ENST00000302514.3:c.681C>T	p.Gly227=	p.G227=	ENST00000302514	NM_031909.2	227	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7942.1	681	MUTECT|MUSE|VARSCANS	.	TAGGCGCCGGG	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF82,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	.	ENSP00000302274	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302514	Transcript	.	.	ENSG00000172247	14346	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C1QT4_HUMAN	C1QTNF4	HGNC	E9PPZ5_HUMAN	.	UPI00000746B6	SNV	C1QTNF4,synonymous_variant,p.%3D,ENST00000302514,;C1QTNF4,intron_variant,,ENST00000530097,;FAM180B,downstream_gene_variant,,ENST00000538490,;FAM180B,downstream_gene_variant,,ENST00000356737,;	1198	9	33	SUCCESS
OR8K5	219453	.	GRCh37	11	55927260	55927260	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	24	125	0	ENST00000313447.1:c.534C>A	p.Tyr178Ter	p.Y178*	ENST00000313447	NM_001004058.2	178	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS31521.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGTAAAA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000323853	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313447	Transcript	.	.	ENSG00000181752	15315	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8K5_HUMAN	OR8K5	HGNC	.	.	UPI000004B231	SNV	OR8K5,stop_gained,p.Tyr178Ter,ENST00000313447,;	534	125	100	SUCCESS
SYVN1	84447	.	GRCh37	11	64900941	64900941	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	39	0	ENST00000377190.3:c.132A>G		p.X44_splice	ENST00000377190	NM_172230.2	44	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS31605.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTGCCAT	NONE	.	.	hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF69	.	.	ENSP00000366395	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000377190	Transcript	.	.	ENSG00000162298	20738	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYVN1_HUMAN	SYVN1	HGNC	E9PMA1_HUMAN	.	UPI000004EE90	SNV	SYVN1,synonymous_variant,p.%3D,ENST00000307289,;SYVN1,synonymous_variant,p.%3D,ENST00000528487,;SYVN1,synonymous_variant,p.%3D,ENST00000377190,;SYVN1,synonymous_variant,p.%3D,ENST00000526060,;SYVN1,synonymous_variant,p.%3D,ENST00000294256,;SYVN1,upstream_gene_variant,,ENST00000531018,;SYVN1,upstream_gene_variant,,ENST00000527765,;SYVN1,upstream_gene_variant,,ENST00000526121,;SYVN1,synonymous_variant,p.%3D,ENST00000527142,;SYVN1,synonymous_variant,p.%3D,ENST00000532771,;SYVN1,splice_region_variant,,ENST00000449943,;SYVN1,upstream_gene_variant,,ENST00000533685,;SYVN1,upstream_gene_variant,,ENST00000525874,;SYVN1,upstream_gene_variant,,ENST00000529207,;SYVN1,upstream_gene_variant,,ENST00000530451,;	227	39	75	SUCCESS
SHANK2	22941	.	GRCh37	11	70507758	70507758	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	74	121	0	ENST00000423696.2:c.742G>T	p.Val248Leu	p.V248L	ENST00000423696		248	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	.	1882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCACCGTCT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000345193	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.552)	.	tolerated(0.05)	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Val38Leu,ENST00000409530,;SHANK2,missense_variant,p.Val38Leu,ENST00000409161,;SHANK2,missense_variant,p.Val38Leu,ENST00000412252,;SHANK2,missense_variant,p.Val248Leu,ENST00000423696,;SHANK2,missense_variant,p.Val37Leu,ENST00000426687,;SHANK2,missense_variant,p.Val39Leu,ENST00000357171,;SHANK2,missense_variant,p.Val39Leu,ENST00000449116,;SHANK2,missense_variant,p.Val258Leu,ENST00000294018,;SHANK2,missense_variant,p.Val628Leu,ENST00000338508,;SHANK2,missense_variant,p.Val39Leu,ENST00000449833,;SHANK2,non_coding_transcript_exon_variant,,ENST00000470759,;SHANK2,upstream_gene_variant,,ENST00000445654,;	1882	122	246	SUCCESS
PLEKHB1	58473	.	GRCh37	11	73372585	73372585	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	13	0	ENST00000354190.5:c.670C>T	p.Leu224Phe	p.L224F	ENST00000354190	NM_021200.2	224	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44672.1	670	RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCTTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14309:SF7,hmmpanther:PTHR14309	.	.	ENSP00000346127	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000354190	Transcript	.	.	ENSG00000021300	19079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PKHB1_HUMAN	PLEKHB1	HGNC	F5H190_HUMAN,F5GY87_HUMAN	.	UPI000006F426	SNV	PLEKHB1,missense_variant,p.Leu189Phe,ENST00000398492,;PLEKHB1,missense_variant,p.Leu224Phe,ENST00000354190,;PLEKHB1,missense_variant,p.Leu170Phe,ENST00000535129,;PLEKHB1,missense_variant,p.Leu177Phe,ENST00000540431,;PLEKHB1,missense_variant,p.Leu205Phe,ENST00000398494,;PLEKHB1,missense_variant,p.Leu119Phe,ENST00000543085,;PLEKHB1,missense_variant,p.Leu170Phe,ENST00000227214,;PLEKHB1,downstream_gene_variant,,ENST00000535582,;PLEKHB1,downstream_gene_variant,,ENST00000539157,;PLEKHB1,downstream_gene_variant,,ENST00000538227,;PLEKHB1,downstream_gene_variant,,ENST00000546251,;PLEKHB1,downstream_gene_variant,,ENST00000543524,;PLEKHB1,downstream_gene_variant,,ENST00000542389,;PLEKHB1,downstream_gene_variant,,ENST00000541597,;Y_RNA,downstream_gene_variant,,ENST00000516923,;PLEKHB1,upstream_gene_variant,,ENST00000544282,;PLEKHB1,non_coding_transcript_exon_variant,,ENST00000426191,;PLEKHB1,non_coding_transcript_exon_variant,,ENST00000545106,;PLEKHB1,downstream_gene_variant,,ENST00000540157,;	1101	14	46	SUCCESS
OR10A3	26496	.	GRCh37	11	7960259	7960259	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758667752	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	64	292	0	ENST00000360759.3:c.809C>G	p.Thr270Ser	p.T270S	ENST00000360759	NM_001003745.1	270	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS31421.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGTTTCG	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000353988	.	1/1	.	.	.	.	.	.	.	.	rs758667752	1/1	PASS	ENST00000360759	Transcript	.	.	ENSG00000170683	8162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.58)	.	O10A3_HUMAN	OR10A3	HGNC	.	.	UPI00000015AD	SNV	OR10A3,missense_variant,p.Thr270Ser,ENST00000360759,;	883	292	184	SUCCESS
FAM222A	84915	.	GRCh37	12	110206078	110206078	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772687668	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	25	0	ENST00000358906.3:c.344C>A	p.Thr115Lys	p.T115K	ENST00000358906		115	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS9133.1	344	MUTECT|VARSCANS	.	CAGCACGGCCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF15258,hmmpanther:PTHR16070	.	.	ENSP00000443292	.	3/3	.	.	.	.	.	.	.	.	rs772687668	3/3	PASS	ENST00000538780	Transcript	.	.	ENSG00000139438	25915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	tolerated(0.3)	.	F222A_HUMAN	FAM222A	HGNC	.	.	UPI000013D712	SNV	FAM222A,missense_variant,p.Thr115Lys,ENST00000538780,;FAM222A,missense_variant,p.Thr115Lys,ENST00000358906,;FAM222A-AS1,intron_variant,,ENST00000541460,;FAM222A-AS1,intron_variant,,ENST00000541723,;	1060	25	27	SUCCESS
GCN1L1	0	.	GRCh37	12	120580635	120580635	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	50	119	0	ENST00000300648.6:c.5606C>T	p.Ser1869Phe	p.S1869F	ENST00000300648	NM_006836.1	1869	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS41847.1	5606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGACTGG	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	43/58	.	.	.	.	.	.	.	.	.	43/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Ser1869Phe,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000547263,;	5619	119	166	SUCCESS
LRP6	4040	.	GRCh37	12	12291266	12291266	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	60	233	0	ENST00000261349.4:c.3600A>G	p.Gln1200=	p.Q1200=	ENST00000261349	NM_002336.2	1200	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS8647.1	3600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTTGAAG	NONE	.	.	PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529	.	.	ENSP00000261349	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000261349	Transcript	.	.	ENSG00000070018	6698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP6_HUMAN	LRP6	HGNC	F5H0Z3_HUMAN,B3KQA9_HUMAN	.	UPI00001FB66C	SNV	LRP6,synonymous_variant,p.%3D,ENST00000543091,;LRP6,synonymous_variant,p.%3D,ENST00000261349,;BCL2L14,intron_variant,,ENST00000396369,;LRP6,upstream_gene_variant,,ENST00000540415,;LRP6,synonymous_variant,p.%3D,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;	3677	233	176	SUCCESS
DHX37	57647	.	GRCh37	12	125438447	125438447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369049552	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	20	0	ENST00000308736.2:c.2674C>T	p.Arg892Trp	p.R892W	ENST00000308736	NM_032656.3	892	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS9261.1	2674	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCAGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000311135	.	20/27	.	.	.	.	.	.	.	.	rs369049552	20/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Arg892Trp,ENST00000308736,;DHX37,missense_variant,p.Arg679Trp,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;DHX37,upstream_gene_variant,,ENST00000542400,;	2773	20	67	SUCCESS
RIMBP2	23504	.	GRCh37	12	130927134	130927134	+	synonymous_variant	Silent	SNP	G	G	T	rs549158714	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	127	188	0	ENST00000261655.4:c.712C>A	p.Arg238=	p.R238=	ENST00000261655	NM_015347.4	238	Cgg/Agg	0	.	A:0	.	A:0	.	T	R	protein_coding	YES	CCDS31925.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCGCGACT	BUFFER|p.R238W|c.712C>T|3	by1000G	.	hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Superfamily_domains:SSF50044	A:0	.	ENSP00000261655	A:0	8/19	.	.	.	.	.	.	.	.	rs549158714,COSM430740	8/19	PASS	ENST00000261655	Transcript	.	A:0.0002	ENSG00000060709	30339	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0.001	.	0,1	RIMB2_HUMAN	RIMBP2	HGNC	F5H3X3_HUMAN	.	UPI00001C1F42	SNV	RIMBP2,synonymous_variant,p.%3D,ENST00000536002,;RIMBP2,synonymous_variant,p.%3D,ENST00000261655,;RIMBP2,synonymous_variant,p.%3D,ENST00000535703,;	876	188	364	SUCCESS
IFLTD1	0	.	GRCh37	12	25801457	25801457	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1160098813	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	73	233	0	ENST00000445693.1:c.29T>A	p.Ile10Asn	p.I10N	ENST00000445693	NM_001145727.2	10	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	.	CCDS44847.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGATGTCT	NONE	.	.	hmmpanther:PTHR23239:SF66,hmmpanther:PTHR23239	.	.	ENSP00000407043	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000445693	Transcript	.	.	ENSG00000152936	26683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious_low_confidence(0.01)	.	ILFT1_HUMAN	IFLTD1	HGNC	H0YFE3_HUMAN,F5H8G2_HUMAN	.	UPI0001951705	SNV	IFLTD1,missense_variant,p.Ile10Asn,ENST00000445693,;IFLTD1,5_prime_UTR_variant,,ENST00000545543,;IFLTD1,5_prime_UTR_variant,,ENST00000540106,;IFLTD1,5_prime_UTR_variant,,ENST00000542224,;	32	233	213	SUCCESS
DENND5B	160518	.	GRCh37	12	31562239	31562239	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	140	0	ENST00000389082.5:c.2761G>A	p.Ala921Thr	p.A921T	ENST00000389082	NM_144973.3	921	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44857.1	2761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCATTGA	NONE	.	.	Superfamily_domains:0052343,SMART_domains:SM00593,Pfam_domain:PF02759,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50826	.	.	ENSP00000373734	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.29)	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,missense_variant,p.Ala956Thr,ENST00000536562,;DENND5B,missense_variant,p.Ala956Thr,ENST00000306833,;DENND5B,missense_variant,p.Ala921Thr,ENST00000389082,;	3026	140	98	SUCCESS
ATP5B	0	.	GRCh37	12	57038650	57038650	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs11542649	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	333	144	324	0	ENST00000262030.3:c.400A>G	p.Ile134Val	p.I134V	ENST00000262030	NM_001686.3	134	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8924.1	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATTTTGA	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01039,Gene3D:3.40.50.300,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347	.	.	ENSP00000262030	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000262030	Transcript	.	.	ENSG00000110955	830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.94)	.	ATPB_HUMAN	ATP5B	HGNC	Q0QEN7_HUMAN	.	UPI000012644E	SNV	ATP5B,missense_variant,p.Ile71Val,ENST00000552959,;ATP5B,missense_variant,p.Ile134Val,ENST00000552919,;ATP5B,missense_variant,p.Ile134Val,ENST00000262030,;ATP5B,missense_variant,p.Ile73Val,ENST00000551020,;ATP5B,intron_variant,,ENST00000552104,;ATP5B,intron_variant,,ENST00000553007,;ATP5B,upstream_gene_variant,,ENST00000551570,;SNORD59A,downstream_gene_variant,,ENST00000384304,;ATP5B,non_coding_transcript_exon_variant,,ENST00000548647,;ATP5B,intron_variant,,ENST00000547808,;ATP5B,intron_variant,,ENST00000548474,;ATP5B,upstream_gene_variant,,ENST00000547250,;ATP5B,upstream_gene_variant,,ENST00000550162,;	451	324	477	SUCCESS
LRP1	4035	.	GRCh37	12	57571304	57571304	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769070816	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	53	63	0	ENST00000243077.3:c.4291G>T	p.Gly1431Cys	p.G1431C	ENST00000243077	NM_002332.2	1431	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS8932.1	4291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGGCTCT	NONE	byFrequency	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	26/89	.	.	.	.	.	.	.	.	rs769070816	26/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Gly1431Cys,ENST00000243077,;	4757	64	150	SUCCESS
VAMP1	6843	.	GRCh37	12	6575091	6575091	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	82	109	0	ENST00000396308.3:c.205G>C	p.Ala69Pro	p.A69P	ENST00000396308	NM_199245.1	69	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS41740.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCTCGGT	NONE	.	.	Prints_domain:PR00219,Superfamily_domains:SSF58038,PIRSF_domain:PIRSF005409,Gene3D:2kogA00,Pfam_domain:PF00957,PROSITE_patterns:PS00417,hmmpanther:PTHR21136:SF32,hmmpanther:PTHR21136,PROSITE_profiles:PS50892	.	.	ENSP00000379602	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.6)	.	deleterious(0)	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	SNV	VAMP1,missense_variant,p.Ala69Pro,ENST00000396308,;VAMP1,missense_variant,p.Ala69Pro,ENST00000361716,;VAMP1,missense_variant,p.Ala69Pro,ENST00000535180,;VAMP1,missense_variant,p.Ala69Pro,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;VAMP1,non_coding_transcript_exon_variant,,ENST00000539047,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;VAMP1,non_coding_transcript_exon_variant,,ENST00000544432,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,non_coding_transcript_exon_variant,,ENST00000535927,;VAMP1,non_coding_transcript_exon_variant,,ENST00000538970,;	351	109	207	SUCCESS
FGD6	55785	.	GRCh37	12	95603522	95603522	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	58	177	0	ENST00000343958.4:c.1538C>G	p.Ala513Gly	p.A513G	ENST00000343958	NM_018351.3	513	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS31878.1	1538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGCCTTT	NONE	.	.	hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673	.	.	ENSP00000344446	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,missense_variant,p.Ala513Gly,ENST00000549499,;FGD6,missense_variant,p.Ala513Gly,ENST00000546711,;FGD6,missense_variant,p.Ala513Gly,ENST00000343958,;FGD6,upstream_gene_variant,,ENST00000550368,;FGD6,intron_variant,,ENST00000451107,;	1762	177	183	SUCCESS
FAM155A	728215	.	GRCh37	13	108518800	108518800	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	37	0	ENST00000375915.2:c.145A>C	p.Thr49Pro	p.T49P	ENST00000375915	NM_001080396.2	49	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS32006.1	145	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGTGAAAA	NONE	.	.	hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2	.	.	ENSP00000365080	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000375915	Transcript	.	.	ENSG00000204442	33877	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	F155A_HUMAN	FAM155A	HGNC	.	.	UPI000045882C	SNV	FAM155A,missense_variant,p.Thr49Pro,ENST00000375915,;	284	38	105	SUCCESS
LNX2	222484	.	GRCh37	13	28143356	28143356	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	63	261	0	ENST00000316334.3:c.465T>G	p.Thr155=	p.T155=	ENST00000316334	NM_153371.3	155	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS9323.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGAGTTCT	NONE	.	.	hmmpanther:PTHR19964:SF33,hmmpanther:PTHR19964	.	.	ENSP00000325929	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000316334	Transcript	.	.	ENSG00000139517	20421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LNX2_HUMAN	LNX2	HGNC	.	.	UPI000012E7A7	SNV	LNX2,synonymous_variant,p.%3D,ENST00000316334,;	595	261	124	SUCCESS
POSTN	10631	.	GRCh37	13	38158220	38158220	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1161203594	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	86	0	ENST00000379747.4:c.1129G>A	p.Ala377Thr	p.A377T	ENST00000379747	NM_006475.2	377	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9364.1	1129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCCAGCT	NONE	.	.	PIRSF_domain:PIRSF016553,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.752)	.	tolerated(0.13)	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	SNV	POSTN,missense_variant,p.Ala377Thr,ENST00000379747,;POSTN,missense_variant,p.Ala377Thr,ENST00000379749,;POSTN,missense_variant,p.Ala377Thr,ENST00000541481,;POSTN,missense_variant,p.Ala377Thr,ENST00000379743,;POSTN,missense_variant,p.Ala377Thr,ENST00000541179,;POSTN,missense_variant,p.Ala377Thr,ENST00000379742,;	1247	86	76	SUCCESS
FNDC3A	22862	.	GRCh37	13	49710511	49710511	+	synonymous_variant	Silent	SNP	A	A	G	rs1215919950	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	51	212	0	ENST00000492622.2:c.534A>G	p.Arg178=	p.R178=	ENST00000492622	NM_001079673.1	178	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS41886.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACGATCTAG	NONE	.	.	hmmpanther:PTHR19900:SF38,hmmpanther:PTHR19900	.	.	ENSP00000417257	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000492622	Transcript	.	.	ENSG00000102531	20296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FND3A_HUMAN	FNDC3A	HGNC	.	.	UPI0000229601	SNV	FNDC3A,synonymous_variant,p.%3D,ENST00000541916,;FNDC3A,synonymous_variant,p.%3D,ENST00000492622,;FNDC3A,synonymous_variant,p.%3D,ENST00000398316,;FNDC3A,synonymous_variant,p.%3D,ENST00000484074,;FNDC3A,non_coding_transcript_exon_variant,,ENST00000378383,;	839	212	119	SUCCESS
SPRY2	10253	.	GRCh37	13	80911451	80911451	+	synonymous_variant	Silent	SNP	G	G	C	rs760370587	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	26	75	0	ENST00000377102.1:c.390C>G	p.Ser130=	p.S130=	ENST00000377102		130	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9463.1	390	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGGAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12365:SF8,hmmpanther:PTHR12365	.	.	ENSP00000366306	.	2/2	.	.	.	.	.	.	.	.	rs760370587	2/2	PASS	ENST00000377102	Transcript	.	.	ENSG00000136158	11270	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPY2_HUMAN	SPRY2	HGNC	.	.	UPI0000001301	SNV	SPRY2,synonymous_variant,p.%3D,ENST00000377102,;SPRY2,synonymous_variant,p.%3D,ENST00000377104,;SPRY2,synonymous_variant,p.%3D,ENST00000540649,;	1368	75	159	SUCCESS
OR4K14	122740	.	GRCh37	14	20483095	20483095	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	90	0	ENST00000305045.2:c.258C>A	p.Phe86Leu	p.F86L	ENST00000305045	NM_001004712.1	86	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS32027.1	258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGGAAATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF31,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305011	.	1/1	.	.	.	.	.	.	.	.	COSM3885771	1/1	PASS	ENST00000305045	Transcript	.	.	ENSG00000169484	15352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.05)	.	tolerated(0.25)	1	OR4KE_HUMAN	OR4K14	HGNC	.	.	UPI0000041CED	SNV	OR4K14,missense_variant,p.Phe86Leu,ENST00000305045,;	258	90	109	SUCCESS
PARP2	10038	.	GRCh37	14	20820469	20820469	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	61	0	ENST00000250416.5:c.602A>G	p.Tyr201Cys	p.Y201C	ENST00000250416	NM_005484.3	201	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS41910.1	602	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAATATGATA	NONE	.	.	hmmpanther:PTHR15447,Gene3D:1.20.142.10,Superfamily_domains:0052256	.	.	ENSP00000250416	.	7/16	.	.	.	.	.	.	.	.	COSM954201,COSM954200	7/16	PASS	ENST00000250416	Transcript	.	.	ENSG00000129484	272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	PARP2_HUMAN	PARP2	HGNC	G3V167_HUMAN	.	UPI0000035DCA	SNV	PARP2,missense_variant,p.Tyr201Cys,ENST00000250416,;PARP2,missense_variant,p.Tyr188Cys,ENST00000429687,;PARP2,missense_variant,p.Tyr201Cys,ENST00000527915,;PARP2,upstream_gene_variant,,ENST00000539930,;PARP2,upstream_gene_variant,,ENST00000555140,;PARP2,3_prime_UTR_variant,,ENST00000529465,;PARP2,non_coding_transcript_exon_variant,,ENST00000528465,;PARP2,upstream_gene_variant,,ENST00000532299,;PARP2,upstream_gene_variant,,ENST00000534664,;PARP2,upstream_gene_variant,,ENST00000530598,;PARP2,upstream_gene_variant,,ENST00000527384,;	629	61	84	SUCCESS
FOXG1	2290	.	GRCh37	14	29237565	29237565	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	21	0	ENST00000313071.4:c.1080C>A	p.Asn360Lys	p.N360K	ENST00000313071	NM_005249.4	360	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS9636.1	1080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACGGCCT	NONE	.	.	hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	COSM1743382	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.3)	.	deleterious(0.02)	1	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Asn360Lys,ENST00000313071,;FOXG1,missense_variant,p.Asn360Lys,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	1449	21	44	SUCCESS
GPR135	64582	.	GRCh37	14	59930780	59930780	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	37	0	ENST00000395116.1:c.1165A>G	p.Ile389Val	p.I389V	ENST00000395116	NM_022571.5	389	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9738.1	1165	RADIA|MUTECT|VARSCANS	.	GCGGATGGCGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000378548	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000395116	Transcript	.	.	ENSG00000181619	19991	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.44)	.	GP135_HUMAN	GPR135	HGNC	.	.	UPI0000046D5B	SNV	GPR135,missense_variant,p.Ile389Val,ENST00000395116,;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Ile389Val,ENST00000481661,;	1281	37	55	SUCCESS
PRKCH	5583	.	GRCh37	14	61997206	61997206	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746996721	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	22	130	0	ENST00000332981.5:c.1654G>T	p.Ala552Ser	p.A552S	ENST00000332981	NM_006255.3	552	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	169	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGCGCCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF51,PROSITE_profiles:PS50011	.	.	ENSP00000452401	.	2/4	.	.	.	.	.	.	.	.	rs746996721,COSM1370394	2/4	PASS	ENST00000556347	Transcript	.	.	ENSG00000258989	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.997)	.	tolerated(0.42)	0,1	.	RP11-47I22.4	Clone_based_vega_gene	.	.	UPI00021CF17E	SNV	RP11-47I22.4,missense_variant,p.Ala57Ser,ENST00000556347,;PRKCH,missense_variant,p.Ala552Ser,ENST00000332981,;PRKCH,missense_variant,p.Ala391Ser,ENST00000555082,;PRKCH,missense_variant,p.Ala120Ser,ENST00000555185,;PRKCH,non_coding_transcript_exon_variant,,ENST00000557599,;PRKCH,non_coding_transcript_exon_variant,,ENST00000536400,;PRKCH,non_coding_transcript_exon_variant,,ENST00000553846,;PRKCH,non_coding_transcript_exon_variant,,ENST00000555382,;PRKCH,non_coding_transcript_exon_variant,,ENST00000555628,;PRKCH,downstream_gene_variant,,ENST00000555110,;PRKCH,downstream_gene_variant,,ENST00000555233,;	168	130	144	SUCCESS
SLC8A3	6547	.	GRCh37	14	70634968	70634968	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	54	0	ENST00000381269.2:c.172G>T	p.Val58Phe	p.V58F	ENST00000381269	NM_183002.1	58	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS35498.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACACCCT	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845	.	.	ENSP00000370669	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000381269	Transcript	.	.	ENSG00000100678	11070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.729)	.	deleterious(0)	.	NAC3_HUMAN	SLC8A3	HGNC	Q86TQ9_HUMAN	.	UPI0000073C9A	SNV	SLC8A3,missense_variant,p.Val58Phe,ENST00000534137,;SLC8A3,missense_variant,p.Val58Phe,ENST00000381269,;SLC8A3,missense_variant,p.Val58Phe,ENST00000357887,;SLC8A3,missense_variant,p.Val58Phe,ENST00000528359,;SLC8A3,missense_variant,p.Val58Phe,ENST00000356921,;SLC8A3,missense_variant,p.Val58Phe,ENST00000494208,;	926	54	38	SUCCESS
LTBP2	4053	.	GRCh37	14	74995708	74995708	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1401080194	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	67	81	0	ENST00000261978.4:c.2105G>T	p.Gly702Val	p.G702V	ENST00000261978	NM_000428.2	702	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9831.1	2105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCCCACG	NONE	.	.	Superfamily_domains:SSF57581,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24034:SF40,hmmpanther:PTHR24034,PROSITE_profiles:PS51364	.	.	ENSP00000261978	.	11/36	.	.	.	.	.	.	.	.	COSM1477762	11/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.959)	.	deleterious(0)	1	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,missense_variant,p.Gly702Val,ENST00000261978,;LTBP2,missense_variant,p.Gly702Val,ENST00000556690,;LTBP2,5_prime_UTR_variant,,ENST00000556359,;LTBP2,missense_variant,p.Gly702Val,ENST00000553939,;	2492	81	160	SUCCESS
SAMD15	161394	.	GRCh37	14	77844990	77844990	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755976933	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	76	269	0	ENST00000216471.4:c.1229C>T	p.Thr410Ile	p.T410I	ENST00000216471	NM_001010860.1	410	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS32126.1	1229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAACCAAAC	NONE	.	.	hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF55	.	.	ENSP00000216471	.	1/3	.	.	.	.	.	.	.	.	rs755976933	1/3	PASS	ENST00000216471	Transcript	.	.	ENSG00000100583	18631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.12)	.	SAM15_HUMAN	SAMD15	HGNC	G3V2Z3_HUMAN	.	UPI0000072F0E	SNV	SAMD15,missense_variant,p.Thr410Ile,ENST00000216471,;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,;	1515	269	380	SUCCESS
ASB2	51676	.	GRCh37	14	94405769	94405769	+	synonymous_variant	Silent	SNP	G	G	A	rs1185256349	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	29	0	ENST00000315988.4:c.1158C>T	p.Gly386=	p.G386=	ENST00000315988	NM_016150.4	386	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55940.1	1302	RADIA|MUTECT|VARSCANS	.	TCGGCGCCGTG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24196:SF0,hmmpanther:PTHR24196,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000451575	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000555019	Transcript	.	.	ENSG00000100628	16012	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASB2_HUMAN	ASB2	HGNC	G3V484_HUMAN,B3KPZ6_HUMAN	.	UPI000013D23C	SNV	ASB2,synonymous_variant,p.%3D,ENST00000555507,;ASB2,synonymous_variant,p.%3D,ENST00000315988,;ASB2,synonymous_variant,p.%3D,ENST00000555019,;RP11-131H24.4,upstream_gene_variant,,ENST00000557646,;ASB2,non_coding_transcript_exon_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000553883,;	1733	29	52	SUCCESS
GOLGA6L2	283685	.	GRCh37	15	23686019	23686019	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759748627	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	47	0	ENST00000567107.1:c.1603C>T	p.Arg535Trp	p.R535W	ENST00000567107		535	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	.	1603	SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGCCACA	BUFFER|p.E537_K538insE|c.1611_1612insGAG|7,BUFFER|p.E537_K538insE|c.1611_1612insGAG|7,BUFFER|p.E537_K538insE|c.1611_1612insGAG|7	byFrequency|byCluster	.	hmmpanther:PTHR23143:SF11,hmmpanther:PTHR23143	.	.	ENSP00000454407	.	8/8	.	.	.	.	.	.	.	.	rs759748627	8/8	PASS	ENST00000567107	Transcript	.	.	ENSG00000174450	26695	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	.	GOLGA6L2	HGNC	H3BMJ4_HUMAN	.	UPI00024672CE	SNV	GOLGA6L2,missense_variant,p.Arg535Trp,ENST00000312015,;GOLGA6L2,missense_variant,p.Arg535Trp,ENST00000567107,;GOLGA6L2,missense_variant,p.Arg262Trp,ENST00000345070,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,;	1656	47	66	SUCCESS
APBA2	321	.	GRCh37	15	29346081	29346081	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs376706582	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	22	0	ENST00000558259.1:c.-7G>A		p.*3*	ENST00000558259	NM_005503.3			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS10022.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACGACTGC	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000453293	.	5/16	.	.	.	.	.	.	.	.	rs376706582	5/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,5_prime_UTR_variant,,ENST00000558259,;APBA2,5_prime_UTR_variant,,ENST00000561069,;APBA2,5_prime_UTR_variant,,ENST00000559709,;APBA2,5_prime_UTR_variant,,ENST00000558206,;APBA2,5_prime_UTR_variant,,ENST00000560283,;APBA2,5_prime_UTR_variant,,ENST00000558402,;APBA2,5_prime_UTR_variant,,ENST00000558330,;APBA2,5_prime_UTR_variant,,ENST00000558358,;APBA2,5_prime_UTR_variant,,ENST00000558804,;APBA2,5_prime_UTR_variant,,ENST00000411764,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	593	22	32	SUCCESS
TGM7	116179	.	GRCh37	15	43571883	43571883	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774865695	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	28	0	ENST00000452443.2:c.1618G>A	p.Gly540Ser	p.G540S	ENST00000452443	NM_052955.2	540	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32213.1	1618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCCCCAT	NONE	byFrequency	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000389466	.	10/13	.	.	.	.	.	.	.	.	rs774865695	10/13	PASS	ENST00000452443	Transcript	.	.	ENSG00000159495	30790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	tolerated(0.23)	.	TGM7_HUMAN	TGM7	HGNC	.	.	UPI0000049F68	SNV	TGM7,missense_variant,p.Gly540Ser,ENST00000452443,;TGM7,upstream_gene_variant,,ENST00000562372,;	1623	28	61	SUCCESS
PDIA3	2923	.	GRCh37	15	44043872	44043872	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	79	0	ENST00000300289.5:c.168-2150A>C		p.*56*	ENST00000300289	NM_005313.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10101.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAAGTTTA	NONE	.	.	.	.	.	ENSP00000300289	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300289	Transcript	.	.	ENSG00000167004	4606	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDIA3_HUMAN	PDIA3	HGNC	.	.	UPI0000052A4F	SNV	PDIA3,missense_variant,p.Lys8Thr,ENST00000538521,;PDIA3,intron_variant,,ENST00000300289,;PDIA3,intron_variant,,ENST00000469684,;CATSPER2P1,upstream_gene_variant,,ENST00000429276,;PDIA3,3_prime_UTR_variant,,ENST00000434494,;PDIA3,intron_variant,,ENST00000455250,;PDIA3,intron_variant,,ENST00000446523,;	.	79	106	SUCCESS
LEO1	123169	.	GRCh37	15	52258056	52258056	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	410	83	480	0	ENST00000299601.5:c.704C>G	p.Pro235Arg	p.P235R	ENST00000299601	NM_138792.2	235	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS10146.1	704	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGTTGT	NONE	.	.	hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146	.	.	ENSP00000299601	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.074)	.	tolerated_low_confidence(0.32)	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,missense_variant,p.Pro235Arg,ENST00000315141,;LEO1,missense_variant,p.Pro235Arg,ENST00000299601,;MAPK6,intron_variant,,ENST00000560802,;	765	480	493	SUCCESS
TTLL13	0	.	GRCh37	15	90799374	90799374	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	46	0	ENST00000339615.5:c.550T>A	p.Tyr184Asn	p.Y184N	ENST00000339615	NM_001029964.2	184	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	.	550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTATGGG	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF91,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000345294	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000339615	Transcript	.	.	ENSG00000213471	32484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	deleterious(0.03)	.	TTL13_HUMAN	TTLL13	HGNC	.	.	UPI00005B2F05	SNV	TTLL13,missense_variant,p.Tyr184Asn,ENST00000339615,;TTLL13,missense_variant,p.Tyr184Asn,ENST00000438251,;RP11-697E2.6,intron_variant,,ENST00000561573,;	840	46	60	SUCCESS
SLC12A3	6559	.	GRCh37	16	56920341	56920341	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	21	0	ENST00000563236.1:c.1992del	p.Phe665SerfsTer7	p.F665Sfs*7	ENST00000563236		664	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS10770.1	1991	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCACCTTCA	NONE	.	.	hmmpanther:PTHR11827:SF9,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000402152	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000438926	Transcript	.	.	ENSG00000070915	10912	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S12A3_HUMAN	SLC12A3	HGNC	.	.	UPI00001FF243	deletion	SLC12A3,frameshift_variant,p.Phe664SerfsTer7,ENST00000566786,;SLC12A3,frameshift_variant,p.Phe665SerfsTer7,ENST00000563236,;SLC12A3,frameshift_variant,p.Phe665SerfsTer7,ENST00000438926,;SLC12A3,frameshift_variant,p.Phe664SerfsTer7,ENST00000262502,;	2020	21	73	SUCCESS
PIGQ	9091	.	GRCh37	16	628459	628459	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	46	0	ENST00000026218.5:c.1023C>G	p.Asp341Glu	p.D341E	ENST00000026218	NM_148920.2	341	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS10411.1	1023	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACCAGGT	NONE	.	.	hmmpanther:PTHR21329,hmmpanther:PTHR21329:SF3,Pfam_domain:PF05024	.	.	ENSP00000026218	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000026218	Transcript	.	.	ENSG00000007541	14135	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.602)	.	deleterious(0.03)	.	PIGQ_HUMAN	PIGQ	HGNC	J3QTH6_HUMAN,B8ZZC7_HUMAN,B8ZZ31_HUMAN,B8ZZ29_HUMAN	.	UPI000006CC88	SNV	PIGQ,missense_variant,p.Asp341Glu,ENST00000321878,;PIGQ,missense_variant,p.Asp341Glu,ENST00000026218,;PIGQ,missense_variant,p.Asp341Glu,ENST00000409527,;PIGQ,downstream_gene_variant,,ENST00000439574,;PIGQ,downstream_gene_variant,,ENST00000470411,;PIGQ,downstream_gene_variant,,ENST00000409439,;PIGQ,downstream_gene_variant,,ENST00000293874,;PIGQ,downstream_gene_variant,,ENST00000422307,;PIGQ,upstream_gene_variant,,ENST00000540241,;PIGQ,non_coding_transcript_exon_variant,,ENST00000544860,;PIGQ,upstream_gene_variant,,ENST00000540548,;PIGQ,missense_variant,p.Asp355Glu,ENST00000443147,;PIGQ,missense_variant,p.Asp19Glu,ENST00000420990,;PIGQ,non_coding_transcript_exon_variant,,ENST00000537901,;PIGQ,upstream_gene_variant,,ENST00000476438,;PIGQ,upstream_gene_variant,,ENST00000480424,;	1111	46	51	SUCCESS
HYDIN	54768	.	GRCh37	16	70884513	70884513	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	29	149	0	ENST00000393567.2:c.12489G>C	p.Val4163=	p.V4163=	ENST00000393567	NM_001270974.1	4163	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS59269.1	12489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCACATC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	74/86	.	.	.	.	.	.	.	.	.	74/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;RNU6ATAC25P,upstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	12640	149	53	SUCCESS
DNAH9	1770	.	GRCh37	17	11738188	11738188	+	synonymous_variant	Silent	SNP	G	G	A	rs774215663	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	51	0	ENST00000262442.4:c.9480G>A	p.Ala3160=	p.A3160=	ENST00000262442	NM_001372.3	3160	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11160.1	9480	MUTECT|MUSE	.	GCAGCGCAGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000262442	.	49/69	.	.	.	.	.	.	.	.	rs774215663	49/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;	9548	51	31	SUCCESS
NLK	51701	.	GRCh37	17	26369851	26369851	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	36	0	ENST00000407008.3:c.-49A>G		p.*17*	ENST00000407008	NM_016231.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11224.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAATGACA	NONE	.	.	.	.	.	ENSP00000384625	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000407008	Transcript	.	.	ENSG00000087095	29858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLK_HUMAN	NLK	HGNC	H0YD75_HUMAN	.	UPI0000D48A70	SNV	NLK,5_prime_UTR_variant,,ENST00000407008,;NLK,upstream_gene_variant,,ENST00000582037,;NLK,intron_variant,,ENST00000583517,;NLK,upstream_gene_variant,,ENST00000496808,;	670	36	49	SUCCESS
KIAA0100	9703	.	GRCh37	17	26967658	26967658	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	206	108	206	0	ENST00000528896.2:c.810C>T	p.Phe270=	p.F270=	ENST00000528896	NM_014680.3	270	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS32595.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGAATAG	NONE	.	.	hmmpanther:PTHR15678,Pfam_domain:PF10344	.	.	ENSP00000436773	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,synonymous_variant,p.%3D,ENST00000544884,;KIAA0100,synonymous_variant,p.%3D,ENST00000389003,;KIAA0100,synonymous_variant,p.%3D,ENST00000528896,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;KIAA0100,3_prime_UTR_variant,,ENST00000583403,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000579253,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577580,;KIAA0100,intron_variant,,ENST00000581267,;KIAA0100,downstream_gene_variant,,ENST00000582901,;	885	206	314	SUCCESS
LYZL6	57151	.	GRCh37	17	34266279	34266279	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	73	0	ENST00000585556.1:c.82G>A	p.Ala28Thr	p.A28T	ENST00000585556		28	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11302.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCAAGT	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF9,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00137,Prints_domain:PR00135	.	.	ENSP00000468094	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000585556	Transcript	.	.	ENSG00000161572	29614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	LYZL6_HUMAN	LYZL6	HGNC	.	.	UPI000006E183	SNV	LYZL6,missense_variant,p.Ala28Thr,ENST00000394523,;LYZL6,missense_variant,p.Ala28Thr,ENST00000585556,;LYZL6,missense_variant,p.Ala28Thr,ENST00000293274,;LYZL6,upstream_gene_variant,,ENST00000492340,;	417	73	50	SUCCESS
ACACA	31	.	GRCh37	17	35538246	35538246	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	103	309	0	ENST00000353139.5:c.4828A>G	p.Ile1610Val	p.I1610V	ENST00000353139	NM_198834.1	1610	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42302.1	4828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATTAACA	NONE	.	.	hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Gene3D:3.90.226.10	.	.	ENSP00000344789	.	40/56	.	.	.	.	.	.	.	.	.	40/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.56)	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,missense_variant,p.Ile24Val,ENST00000592427,;ACACA,missense_variant,p.Ile274Val,ENST00000591119,;ACACA,missense_variant,p.Ile1515Val,ENST00000360679,;ACACA,missense_variant,p.Ile1610Val,ENST00000353139,;ACACA,missense_variant,p.Ile1573Val,ENST00000394406,;ACACA,missense_variant,p.Ile1495Val,ENST00000335166,;	5310	309	198	SUCCESS
KRT37	8688	.	GRCh37	17	39579952	39579952	+	intron_variant	Intron	SNP	G	G	C	rs548895712	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	27	0	ENST00000225550.3:c.575+62C>G		p.*192*	ENST00000225550	NM_003770.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32653.1	.	MUTECT|MUSE	.	TAATGGGGCGG	NONE	by1000G	.	.	.	.	ENSP00000225550	.	.	.	.	.	.	.	.	.	.	rs548895712	.	PASS	ENST00000225550	Transcript	.	A:0.0002	ENSG00000108417	6455	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRT37_HUMAN	KRT37	HGNC	.	.	UPI000000DC9A	SNV	KRT37,intron_variant,,ENST00000225550,;AC003958.2,non_coding_transcript_exon_variant,,ENST00000432258,;	.	27	33	SUCCESS
HEATR6	63897	.	GRCh37	17	58156056	58156056	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1447439758	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	11	0	ENST00000184956.6:c.219+1G>A		p.X73_splice	ENST00000184956	NM_022070.4	73		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11623.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTACCTCCG	NONE	.	.	.	.	.	ENSP00000184956	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000184956	Transcript	.	.	ENSG00000068097	24076	.	.	HIGH	1/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HEAT6_HUMAN	HEATR6	HGNC	K7ELR8_HUMAN	.	UPI0000366C37	SNV	HEATR6,splice_donor_variant,,ENST00000585976,;HEATR6,splice_donor_variant,,ENST00000184956,;HEATR6,splice_donor_variant,,ENST00000593228,;HEATR6,splice_donor_variant,,ENST00000593097,;CTD-2319I12.1,downstream_gene_variant,,ENST00000587298,;CTD-2319I12.1,downstream_gene_variant,,ENST00000590012,;CTD-2319I12.1,downstream_gene_variant,,ENST00000590346,;CTD-2319I12.2,upstream_gene_variant,,ENST00000589740,;CTD-2319I12.1,downstream_gene_variant,,ENST00000566140,;CTD-2319I12.1,downstream_gene_variant,,ENST00000592556,;CTD-2319I12.1,downstream_gene_variant,,ENST00000588180,;CTD-2319I12.1,downstream_gene_variant,,ENST00000589987,;HEATR6,splice_donor_variant,,ENST00000585712,;HEATR6,splice_donor_variant,,ENST00000591074,;HEATR6,splice_donor_variant,,ENST00000592664,;HEATR6,splice_donor_variant,,ENST00000587003,;CTD-2319I12.1,downstream_gene_variant,,ENST00000589777,;HEATR6,upstream_gene_variant,,ENST00000590587,;	.	11	30	SUCCESS
SDK2	54549	.	GRCh37	17	71503642	71503642	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	85	0	ENST00000392650.3:c.159C>T	p.Ser53=	p.S53=	ENST00000392650	NM_001144952.1	53	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45769.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCTGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000376421	.	2/45	.	.	.	.	.	.	.	.	.	2/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,synonymous_variant,p.%3D,ENST00000388726,;SDK2,synonymous_variant,p.%3D,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000585283,;	160	85	111	SUCCESS
GPS2	2874	.	GRCh37	17	7216697	7216697	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	49	85	0	ENST00000380728.2:c.724+2T>C		p.X242_splice	ENST00000380728		242		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCACCTGT	NONE	.	.	.	.	.	ENSP00000370104	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380728	Transcript	.	.	ENSG00000132522	4550	.	.	HIGH	8/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPS2_HUMAN	GPS2	HGNC	I3L4X7_HUMAN	.	UPI0000000DD1	SNV	GPS2,splice_donor_variant,,ENST00000573684,;GPS2,splice_donor_variant,,ENST00000380728,;GPS2,splice_donor_variant,,ENST00000570780,;GPS2,splice_donor_variant,,ENST00000389167,;GPS2,splice_donor_variant,,ENST00000577040,;GPS2,splice_donor_variant,,ENST00000391950,;EIF5A,downstream_gene_variant,,ENST00000571955,;GPS2,upstream_gene_variant,,ENST00000574458,;NEURL4,downstream_gene_variant,,ENST00000570460,;EIF5A,downstream_gene_variant,,ENST00000336458,;NEURL4,downstream_gene_variant,,ENST00000315614,;EIF5A,downstream_gene_variant,,ENST00000573542,;EIF5A,downstream_gene_variant,,ENST00000576930,;NEURL4,downstream_gene_variant,,ENST00000399464,;EIF5A,downstream_gene_variant,,ENST00000419711,;NEURL4,downstream_gene_variant,,ENST00000571887,;EIF5A,downstream_gene_variant,,ENST00000336452,;EIF5A,downstream_gene_variant,,ENST00000572815,;EIF5A,downstream_gene_variant,,ENST00000573714,;EIF5A,downstream_gene_variant,,ENST00000416016,;NEURL4,downstream_gene_variant,,ENST00000574120,;RP11-542C16.2,splice_donor_variant,,ENST00000315601,;GPS2,splice_donor_variant,,ENST00000572172,;RP11-542C16.2,splice_donor_variant,,ENST00000575474,;GPS2,splice_donor_variant,,ENST00000571569,;GPS2,splice_donor_variant,,ENST00000571697,;GPS2,non_coding_transcript_exon_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;EIF5A,downstream_gene_variant,,ENST00000575001,;NEURL4,downstream_gene_variant,,ENST00000573186,;NEURL4,downstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000576794,;GPS2,downstream_gene_variant,,ENST00000572707,;EIF5A,downstream_gene_variant,,ENST00000355068,;NEURL4,downstream_gene_variant,,ENST00000572029,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;GPS2,downstream_gene_variant,,ENST00000571098,;	.	85	94	SUCCESS
TP53	7157	.	GRCh37	17	7577150	7577150	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	36	0	ENST00000269305.4:c.788del	p.Asn263IlefsTer82	p.N263Ifs*82	ENST00000269305	NM_001126112.2	263	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS11118.1	788	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTAGATTACCA	CODON|p.0?|c.1_1182del1182|6,CODON|p.L265delL|c.790_792delCTA|4,CODON|p.L264fs*81|c.790delC|3,CODON|p.L264I|c.790C>A|3,CODON|p.L264L|c.790C>T|5,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267Q|c.800G>A|3,BUFFER|p.R267P|c.800G>C|18,BUFFER|p.R267Q|c.800G>A|13,BUFFER|p.R267L|c.800G>T|6,BUFFER|p.R267L|c.800G>T|7,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267W|c.799C>T|8,BUFFER|p.R267W|c.799C>T|4,BUFFER|p.R267W|c.799C>T|30,BUFFER|p.G266fs*79|c.797delG|3,BUFFER|p.G266E|c.797G>A|11,BUFFER|p.G266E|c.797G>A|7,BUFFER|p.G266V|c.797G>T|5,BUFFER|p.G266E|c.797G>A|17,BUFFER|p.G266E|c.797G>A|64,BUFFER|p.G266V|c.797G>T|18,BUFFER|p.G266V|c.797G>T|46,BUFFER|p.G266R|c.796G>A|5,BUFFER|p.G266*|c.796G>T|13,BUFFER|p.G266R|c.796G>A|7,BUFFER|p.G266R|c.796G>A|36,BUFFER|p.G266R|c.796G>C|15,BUFFER|p.G266R|c.796G>A|6,BUFFER|p.L265delL|c.792_794delACT|3,BUFFER|p.L265L|c.795G>A|3,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265P|c.794T>C|17,BUFFER|p.L265R|c.794T>G|4,BUFFER|p.L265P|c.794T>C|4,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265fs*80|c.793delC|3,BUFFER|p.L265M|c.793C>A|5,BUFFER|p.N263fs*82|c.787delA|3,BUFFER|p.G262delG|c.784_786delGGT|12,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262fs*83|c.784delG|3,BUFFER|p.G262V|c.785G>T|9,BUFFER|p.G262D|c.785G>A|6,BUFFER|p.G262V|c.785G>T|18,BUFFER|p.G262V|c.785G>T|3,BUFFER|p.S261R|c.783T>G|3,BUFFER|p.?|c.783-1G>T|4,BUFFER|p.?|c.783-1G>T|19,BUFFER|p.?|c.783-1G>A|4,BUFFER|p.?|c.783-1G>T|8,BUFFER|p.?|c.783-1G>A|3,BUFFER|p.?|c.783-1G>T|5,BUFFER|p.?|c.783-1G>A|8,BUFFER|p.?|c.783-2A>T|3,BUFFER|p.?|c.783-2A>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13768A>G,TP53_g.13768A>T,COSM43917	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	.	.	0,0,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Asn263IlefsTer88,ENST00000420246,;TP53,frameshift_variant,p.Asn263IlefsTer82,ENST00000269305,;TP53,frameshift_variant,p.Asn131IlefsTer?,ENST00000509690,;TP53,frameshift_variant,p.Asn263IlefsTer89,ENST00000359597,;TP53,frameshift_variant,p.Asn263IlefsTer82,ENST00000445888,;TP53,frameshift_variant,p.Asn263IlefsTer80,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	978	36	76	SUCCESS
ALOX15B	247	.	GRCh37	17	7950032	7950032	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs140152561	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	40	0	ENST00000380183.4:c.1249del	p.Arg417GlyfsTer25	p.R417Gfs*25	ENST00000380183	NM_001141.2	416	gCc/gc	0	.	A:0	.	A:0	.	-	A/X	protein_coding	YES	CCDS11128.1	1247	INDELOCATOR|VARSCANI	.	CACTCGCCCGGG	NONE	by1000G	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484	A:0.001	.	ENSP00000369530	A:0	9/14	.	.	.	.	.	.	.	.	rs140152561	9/14	PASS	ENST00000380183	Transcript	.	A:0.0002	ENSG00000179593	434	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	LX15B_HUMAN	ALOX15B	HGNC	.	.	UPI0000140991	deletion	ALOX15B,frameshift_variant,p.Arg417GlyfsTer25,ENST00000380183,;ALOX15B,frameshift_variant,p.Arg417GlyfsTer25,ENST00000572022,;ALOX15B,intron_variant,,ENST00000573359,;ALOX15B,intron_variant,,ENST00000380173,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	1386	40	51	SUCCESS
DYM	54808	.	GRCh37	18	46860102	46860102	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	71	0	ENST00000269445.6:c.616C>T	p.Pro206Ser	p.P206S	ENST00000269445	NM_017653.3	206	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11937.1	616	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGACCTC	NONE	.	.	hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742	.	.	ENSP00000269445	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000269445	Transcript	.	.	ENSG00000141627	21317	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.21)	.	DYM_HUMAN	DYM	HGNC	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN	.	UPI00001AE953	SNV	DYM,missense_variant,p.Pro51Ser,ENST00000581738,;DYM,missense_variant,p.Pro51Ser,ENST00000578396,;DYM,missense_variant,p.Pro51Ser,ENST00000583225,;DYM,missense_variant,p.Pro51Ser,ENST00000584983,;DYM,missense_variant,p.Pro206Ser,ENST00000269445,;DYM,missense_variant,p.Pro51Ser,ENST00000583280,;DYM,intron_variant,,ENST00000442713,;DYM,non_coding_transcript_exon_variant,,ENST00000580615,;DYM,3_prime_UTR_variant,,ENST00000418472,;	1074	71	67	SUCCESS
PTPRM	5797	.	GRCh37	18	8088802	8088802	+	synonymous_variant	Silent	SNP	C	C	T	rs781228109	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	103	1	ENST00000332175.8:c.1809C>T	p.Thr603=	p.T603=	ENST00000332175	NM_002845.3	603	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS58613.1	1809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACCGTGAC	NONE	byFrequency	.	SMART_domains:SM00060,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206	.	.	ENSP00000463325	.	11/33	.	.	.	.	.	.	.	.	rs781228109,COSM438411	11/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,synonymous_variant,p.%3D,ENST00000332175,;PTPRM,synonymous_variant,p.%3D,ENST00000583289,;PTPRM,synonymous_variant,p.%3D,ENST00000444013,;PTPRM,synonymous_variant,p.%3D,ENST00000400053,;PTPRM,synonymous_variant,p.%3D,ENST00000400060,;PTPRM,synonymous_variant,p.%3D,ENST00000580170,;PTPRM,non_coding_transcript_exon_variant,,ENST00000578571,;	2846	104	55	SUCCESS
RFX1	5989	.	GRCh37	19	14073811	14073811	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	13	0	ENST00000254325.4:c.2765A>G	p.Asp922Gly	p.D922G	ENST00000254325	NM_002918.4	922	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12301.1	2765	RADIA|VARSCANS	.	CTTTGTCGGGG	NONE	.	.	hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF23	.	.	ENSP00000254325	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000254325	Transcript	.	.	ENSG00000132005	9982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.787)	.	deleterious(0.02)	.	RFX1_HUMAN	RFX1	HGNC	.	.	UPI000013CE29	SNV	RFX1,missense_variant,p.Asp922Gly,ENST00000254325,;DCAF15,downstream_gene_variant,,ENST00000585468,;DCAF15,downstream_gene_variant,,ENST00000587307,;DCAF15,downstream_gene_variant,,ENST00000254337,;DCAF15,downstream_gene_variant,,ENST00000588523,;DCAF15,downstream_gene_variant,,ENST00000591385,;RFX1,downstream_gene_variant,,ENST00000588520,;	3000	13	33	SUCCESS
GMIP	51291	.	GRCh37	19	19740822	19740822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747924692	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	73	0	ENST00000203556.4:c.2863G>A	p.Ala955Thr	p.A955T	ENST00000203556	NM_016573.2	955	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12408.1	2863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCCCTGG	NONE	.	.	hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16	.	.	ENSP00000203556	.	21/21	.	.	.	.	.	.	.	.	rs747924692	21/21	PASS	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.34)	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,missense_variant,p.Ala929Thr,ENST00000587238,;GMIP,missense_variant,p.Ala955Thr,ENST00000203556,;GMIP,missense_variant,p.Ala926Thr,ENST00000445806,;LPAR2,upstream_gene_variant,,ENST00000586703,;LPAR2,upstream_gene_variant,,ENST00000542587,;LPAR2,upstream_gene_variant,,ENST00000588233,;LPAR2,upstream_gene_variant,,ENST00000588461,;LPAR2,upstream_gene_variant,,ENST00000592061,;LPAR2,upstream_gene_variant,,ENST00000407877,;LPAR2,upstream_gene_variant,,ENST00000591042,;LPAR2,upstream_gene_variant,,ENST00000589311,;GMIP,downstream_gene_variant,,ENST00000586269,;LPAR2,upstream_gene_variant,,ENST00000590629,;	3001	73	137	SUCCESS
ZNF99	7652	.	GRCh37	19	22942280	22942281	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	144	42	254	0	ENST00000596209.1:c.430dup	p.Ile144AsnfsTer5	p.I144Nfs*5	ENST00000596209	NM_001080409.2	144	ata/aAta	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS59369.1	430-431	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAATATTTTT	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	insertion	ZNF99,frameshift_variant,p.Ile165AsnfsTer5,ENST00000397104,;ZNF99,frameshift_variant,p.Ile144AsnfsTer5,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	521-522	254	186	SUCCESS
ZNF681	148213	.	GRCh37	19	23927076	23927076	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	43	140	0	ENST00000395385.3:c.1069A>G	p.Lys357Glu	p.K357E	ENST00000395385		357	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS12414.2	1276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTTTTCAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,missense_variant,p.Lys357Glu,ENST00000395385,;ZNF681,missense_variant,p.Lys426Glu,ENST00000402377,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	1418	140	124	SUCCESS
C19orf55	0	.	GRCh37	19	36249050	36249050	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	20	0	ENST00000396908.4:c.-67C>A		p.*23*	ENST00000396908	NM_001039887.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGACGGAGA	NONE	.	4	.	.	.	ENSP00000467267	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000544099	Transcript	.	.	ENSG00000167595	25204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	C19orf55	HGNC	K7EP81_HUMAN	.	UPI00006CA356	SNV	C19orf55,5_prime_UTR_variant,,ENST00000396908,;C19orf55,5_prime_UTR_variant,,ENST00000444637,;C19orf55,upstream_gene_variant,,ENST00000421853,;C19orf55,upstream_gene_variant,,ENST00000542134,;C19orf55,upstream_gene_variant,,ENST00000301165,;C19orf55,upstream_gene_variant,,ENST00000537459,;C19orf55,upstream_gene_variant,,ENST00000544099,;HSPB6,upstream_gene_variant,,ENST00000004982,;LIN37,downstream_gene_variant,,ENST00000301159,;C19orf55,upstream_gene_variant,,ENST00000545674,;C19orf55,upstream_gene_variant,,ENST00000536950,;LIN37,downstream_gene_variant,,ENST00000591163,;HSPB6,upstream_gene_variant,,ENST00000592984,;HSPB6,upstream_gene_variant,,ENST00000587965,;AC002398.11,upstream_gene_variant,,ENST00000591091,;AC002398.12,downstream_gene_variant,,ENST00000587767,;C19orf55,upstream_gene_variant,,ENST00000544876,;AC002398.9,downstream_gene_variant,,ENST00000591613,;C19orf55,upstream_gene_variant,,ENST00000601095,;LIN37,downstream_gene_variant,,ENST00000590890,;C19orf55,upstream_gene_variant,,ENST00000600988,;C19orf55,upstream_gene_variant,,ENST00000535581,;LIN37,downstream_gene_variant,,ENST00000595455,;LIN37,downstream_gene_variant,,ENST00000590706,;C19orf55,upstream_gene_variant,,ENST00000539771,;LIN37,downstream_gene_variant,,ENST00000587108,;	.	21	40	SUCCESS
TGFB1	7040	.	GRCh37	19	41850671	41850671	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	48	0	ENST00000221930.5:c.615G>T	p.Arg205=	p.R205=	ENST00000221930	NM_000660.4	205	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33031.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCCGCAC	NONE	.	.	hmmpanther:PTHR11848:SF125,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423	.	.	ENSP00000221930	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000221930	Transcript	1	.	ENSG00000105329	11766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGFB1_HUMAN	TGFB1	HGNC	Q7Z488_HUMAN,Q7Z487_HUMAN,Q5PY19_HUMAN	.	UPI000013C7E1	SNV	TGFB1,synonymous_variant,p.%3D,ENST00000221930,;TGFB1,upstream_gene_variant,,ENST00000598758,;TGFB1,non_coding_transcript_exon_variant,,ENST00000597453,;TGFB1,non_coding_transcript_exon_variant,,ENST00000600196,;	1482	48	62	SUCCESS
ACPT	0	.	GRCh37	19	51294077	51294077	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1248948779	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	19	0	ENST00000270593.1:c.263G>A	p.Arg88His	p.R88H	ENST00000270593	NM_033068.2	88	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12802.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGCTACG	NONE	.	.	hmmpanther:PTHR11567:SF117,hmmpanther:PTHR11567,Pfam_domain:PF00328,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254	.	.	ENSP00000270593	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000270593	Transcript	.	.	ENSG00000142513	14376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PPAT_HUMAN	ACPT	HGNC	.	.	UPI0000048D54	SNV	ACPT,missense_variant,p.Arg88His,ENST00000270594,;ACPT,missense_variant,p.Arg88His,ENST00000270593,;CTD-2568A17.1,upstream_gene_variant,,ENST00000563228,;CTD-2568A17.1,upstream_gene_variant,,ENST00000562076,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	263	19	37	SUCCESS
ZNF677	342926	.	GRCh37	19	53747099	53747099	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1465473511	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	129	0	ENST00000333952.4:c.67G>C	p.Glu23Gln	p.E23Q	ENST00000333952		23	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS12861.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCCCACT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000334394	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,missense_variant,p.Glu23Gln,ENST00000599012,;ZNF677,missense_variant,p.Glu23Gln,ENST00000594681,;ZNF677,missense_variant,p.Glu23Gln,ENST00000601413,;ZNF677,missense_variant,p.Glu23Gln,ENST00000601828,;ZNF677,missense_variant,p.Glu23Gln,ENST00000594517,;ZNF677,missense_variant,p.Glu23Gln,ENST00000598513,;ZNF677,missense_variant,p.Glu23Gln,ENST00000598806,;ZNF677,missense_variant,p.Glu23Gln,ENST00000333952,;CTD-2245F17.6,downstream_gene_variant,,ENST00000596041,;ZNF677,non_coding_transcript_exon_variant,,ENST00000593539,;ZNF677,upstream_gene_variant,,ENST00000599328,;	233	129	114	SUCCESS
CNOT3	4849	.	GRCh37	19	54646892	54646892	+	synonymous_variant	Silent	SNP	C	C	T	rs149889819	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	39	0	ENST00000221232.5:c.63C>T	p.Gly21=	p.G21=	ENST00000221232	NM_014516.3	21	ggC/ggT	0	.	T:0.0008	.	T:0	.	T	G	protein_coding	YES	CCDS12880.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGTGGA	BUFFER|p.E20K|c.58G>A|7	byCluster|by1000G	.	PIRSF_domain:PIRSF005290,Pfam_domain:PF04065,hmmpanther:PTHR23326,hmmpanther:PTHR23326:SF1	T:0	.	ENSP00000383954	T:0	2/17	.	.	.	.	.	.	.	.	rs149889819	2/17	PASS	ENST00000406403	Transcript	1	T:0.0002	ENSG00000088038	7879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CNOT3_HUMAN	CNOT3	HGNC	.	.	UPI00000729AD	SNV	CNOT3,synonymous_variant,p.%3D,ENST00000406403,;CNOT3,synonymous_variant,p.%3D,ENST00000221232,;CNOT3,5_prime_UTR_variant,,ENST00000358389,;CNOT3,upstream_gene_variant,,ENST00000440571,;CNOT3,non_coding_transcript_exon_variant,,ENST00000482247,;CNOT3,upstream_gene_variant,,ENST00000447684,;	1666	39	57	SUCCESS
AMPD1	270	.	GRCh37	1	115220086	115220086	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121912682	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	18	81	0	ENST00000520113.2:c.1373G>T	p.Arg458Leu	p.R458L	ENST00000520113		458	cGc/cTc	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS876.2	1373	RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	ACAGGCGGGGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,Pfam_domain:PF00962,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	T:0.0109	.	ENSP00000430075	T:0	10/16	.	.	.	.	.	.	.	.	CM002933,rs121912682	10/16	PASS	ENST00000520113	Transcript	.	T:0.0022	ENSG00000116748	468	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(1)	T:0	deleterious(0)	.	AMPD1_HUMAN	AMPD1	HGNC	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN	.	UPI0000470A27	SNV	AMPD1,missense_variant,p.Arg425Leu,ENST00000353928,;AMPD1,missense_variant,p.Arg458Leu,ENST00000520113,;AMPD1,missense_variant,p.Arg454Leu,ENST00000369538,;AMPD1,downstream_gene_variant,,ENST00000485564,;	1389	81	119	SUCCESS
IGSF3	3321	.	GRCh37	1	117122413	117122413	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1279277775	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	48	58	0	ENST00000369486.3:c.2935C>T	p.Arg979Cys	p.R979C	ENST00000369486	NM_001007237.2	979	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS30814.1	2995	RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	GGAGCGGGACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Gene3D:2.60.40.10,SMART_domains:SM00409	.	.	ENSP00000358495	.	11/12	.	.	.	.	.	.	.	.	rs724160030,COSM1320103,COSM1320102	11/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	possibly_damaging(0.836)	.	deleterious(0.01)	0,1,1	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Arg999Cys,ENST00000318837,;IGSF3,missense_variant,p.Arg979Cys,ENST00000369486,;IGSF3,missense_variant,p.Arg999Cys,ENST00000369483,;	3700	58	101	SUCCESS
OTUD7B	56957	.	GRCh37	1	149916120	149916120	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376252200	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	23	30	0	ENST00000369135.4:c.2168G>T	p.Gly723Val	p.G723V	ENST00000369135	NM_020205.3	723	gGc/gTc	0	A:0	.	.	.	.	A	G/V	protein_coding	YES	CCDS41389.1	2168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGCCCCCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF11	.	A:0.0001	ENSP00000358131	.	12/12	.	.	.	.	.	.	.	.	rs376252200	12/12	PASS	ENST00000369135	Transcript	.	.	ENSG00000163113	16683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.18)	.	OTU7B_HUMAN	OTUD7B	HGNC	Q5SZ59_HUMAN	.	UPI000020415D	SNV	OTUD7B,missense_variant,p.Gly723Val,ENST00000369135,;OTUD7B,downstream_gene_variant,,ENST00000417191,;	2463	30	39	SUCCESS
S100A10	6281	.	GRCh37	1	151958721	151958721	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	609	202	476	0	ENST00000368809.1:c.-15A>G		p.*5*	ENST00000368809				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1008.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGTTGAAG	NONE	.	.	.	.	.	ENSP00000357801	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000368811	Transcript	.	.	ENSG00000197747	10487	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S10AA_HUMAN	S100A10	HGNC	D3DV26_HUMAN	.	UPI0000005BAB	SNV	S100A10,5_prime_UTR_variant,,ENST00000368811,;S100A10,5_prime_UTR_variant,,ENST00000368809,;S100A10,non_coding_transcript_exon_variant,,ENST00000478348,;S100A10,non_coding_transcript_exon_variant,,ENST00000478574,;	646	476	812	SUCCESS
OR10J5	127385	.	GRCh37	1	159505721	159505721	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756122652	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	26	103	0	ENST00000334857.2:c.77C>A	p.Thr26Asn	p.T26N	ENST00000334857	NM_001004469.1	26	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS30910.1	77	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGGTTATC	NONE	.	.	hmmpanther:PTHR24247:SF65,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000334441	.	1/1	.	.	.	.	.	.	.	.	rs756122652	1/1	PASS	ENST00000334857	Transcript	.	.	ENSG00000184155	14993	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.655)	.	tolerated(0.05)	.	O10J5_HUMAN	OR10J5	HGNC	.	.	UPI0000041E4E	SNV	OR10J5,missense_variant,p.Thr26Asn,ENST00000334857,;	122	103	133	SUCCESS
RFWD2	0	.	GRCh37	1	175956209	175956209	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	42	165	0	ENST00000367669.3:c.2003A>G	p.Tyr668Cys	p.Y668C	ENST00000367669	NM_022457.5	668	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS30944.1	2003	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATAGTAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356641	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.124)	.	deleterious(0.01)	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.Tyr644Cys,ENST00000308769,;RFWD2,missense_variant,p.Tyr503Cys,ENST00000367666,;RFWD2,missense_variant,p.Tyr668Cys,ENST00000367669,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2518	165	190	SUCCESS
TDRD5	163589	.	GRCh37	1	179623394	179623394	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	210	19	250	0	ENST00000294848.8:c.2160+2062T>G		p.*720*	ENST00000294848	NM_173533.3	740		0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS55663.1	2219	MUTECT|MUSE|VARSCANS	.	GCCATTAAAGG	NONE	.	.	hmmpanther:PTHR22948,Low_complexity_(Seg):seg	.	.	ENSP00000406052	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,stop_gained,p.Leu196Ter,ENST00000417329,;TDRD5,stop_gained,p.Leu740Ter,ENST00000444136,;TDRD5,intron_variant,,ENST00000367614,;TDRD5,intron_variant,,ENST00000294848,;	2469	250	230	SUCCESS
KIF14	9928	.	GRCh37	1	200522769	200522769	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	251	30	297	1	ENST00000367350.4:c.4694A>G	p.His1565Arg	p.H1565R	ENST00000367350	NM_014875.2	1565	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS30963.1	4694	RADIA|MUTECT|MUSE|VARSCANS	.	CAATGTGAGTT	NONE	.	.	hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115	.	.	ENSP00000356319	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.56)	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,missense_variant,p.His1565Arg,ENST00000367350,;	5133	298	281	SUCCESS
HHIPL2	79802	.	GRCh37	1	222705320	222705320	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	82	0	ENST00000343410.6:c.1711G>C	p.Glu571Gln	p.E571Q	ENST00000343410	NM_024746.3	571	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS1530.2	1711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCAGCAA	NONE	.	.	Superfamily_domains:0046203,Pfam_domain:PF07995,Gene3D:2.120.10.30,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	.	.	ENSP00000342118	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000343410	Transcript	.	.	ENSG00000143512	25842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	HIPL2_HUMAN	HHIPL2	HGNC	.	.	UPI000004C60D	SNV	HHIPL2,missense_variant,p.Glu571Gln,ENST00000343410,;HHIPL2,non_coding_transcript_exon_variant,,ENST00000468172,;	1770	82	58	SUCCESS
RBM34	23029	.	GRCh37	1	235318339	235318339	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200657743	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	338	283	591	1	ENST00000408888.3:c.454G>T	p.Val152Leu	p.V152L	ENST00000408888		152	Gta/Tta	0	T:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS41477.2	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTACTTTAA	NONE	byCluster	.	.	.	T:0.0002	ENSP00000386226	.	4/11	.	.	.	.	.	.	.	.	rs200657743	4/11	PASS	ENST00000408888	Transcript	.	.	ENSG00000188739	28965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.48)	.	RBM34_HUMAN	RBM34	HGNC	.	.	UPI00001D7E4C	SNV	RBM34,missense_variant,p.Val150Leu,ENST00000447801,;RBM34,missense_variant,p.Val147Leu,ENST00000366606,;RBM34,missense_variant,p.Val152Leu,ENST00000408888,;RBM34,missense_variant,p.Val181Leu,ENST00000429912,;ARID4B,3_prime_UTR_variant,,ENST00000474953,;RBM34,3_prime_UTR_variant,,ENST00000474086,;RBM34,non_coding_transcript_exon_variant,,ENST00000476261,;RBM34,non_coding_transcript_exon_variant,,ENST00000468751,;RBM34,downstream_gene_variant,,ENST00000475960,;	685	592	621	SUCCESS
KIF26B	55083	.	GRCh37	1	245772747	245772747	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	40	0	ENST00000407071.2:c.1831C>G	p.Leu611Val	p.L611V	ENST00000407071	NM_018012.3	611	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS44342.1	1831	MUTECT|MUSE|VARSCANS	.	ACCTGCTGTCG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000385545	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Leu611Val,ENST00000407071,;KIF26B,missense_variant,p.Leu230Val,ENST00000366518,;	2271	41	90	SUCCESS
ARID1A	8289	.	GRCh37	1	27087888	27087898	+	frameshift_variant	Frame_Shift_Del	DEL	ACCTCGGCCAC	ACCTCGGCCAC	CCCTCG	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	ACCTCGGCCAC	ACCTCGGCCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	81	0	ENST00000324856.7:c.2175_2185delinsCCCTCG	p.Pro728GlnfsTer87	p.P728Qfs*87	ENST00000324856	NM_006015.4	725	ccACCTCGGCCACcc/ccCCCTCGcc	0	.	.	.	.	.	CCCTCG	PPRPP/PPRX	protein_coding	YES	CCDS285.1	2175-2185	INDELOCATOR*|VARSCANI*|PINDEL	.	GATGCCACCTCGGCCACCCAGT	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	substitution	ARID1A,frameshift_variant,p.Pro728GlnfsTer87,ENST00000457599,;ARID1A,frameshift_variant,p.Pro345GlnfsTer87,ENST00000374152,;ARID1A,frameshift_variant,p.Pro728GlnfsTer87,ENST00000324856,;RN7SL501P,upstream_gene_variant,,ENST00000578818,;ARID1A,upstream_gene_variant,,ENST00000430291,;	2546-2556	81	45	SUCCESS
BAI2	0	.	GRCh37	1	32207068	32207068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	66	56	0	ENST00000373658.3:c.1700G>T	p.Arg567Leu	p.R567L	ENST00000373658	NM_001703.2	567	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS346.2	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCGGCTG	NONE	.	.	PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41,SMART_domains:SM00008,Prints_domain:PR01694	.	.	ENSP00000362762	.	11/33	.	.	.	.	.	.	.	.	.	11/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,missense_variant,p.Arg567Leu,ENST00000373658,;BAI2,missense_variant,p.Arg500Leu,ENST00000398547,;BAI2,missense_variant,p.Arg505Leu,ENST00000420125,;BAI2,missense_variant,p.Arg500Leu,ENST00000398542,;BAI2,missense_variant,p.Arg567Leu,ENST00000373655,;BAI2,missense_variant,p.Arg209Leu,ENST00000440175,;BAI2,missense_variant,p.Arg555Leu,ENST00000398538,;BAI2,missense_variant,p.Arg567Leu,ENST00000527361,;BAI2,missense_variant,p.Arg567Leu,ENST00000257070,;BAI2,missense_variant,p.Arg515Leu,ENST00000398556,;BAI2,downstream_gene_variant,,ENST00000533175,;BAI2,intron_variant,,ENST00000530134,;BAI2,downstream_gene_variant,,ENST00000473952,;BAI2,upstream_gene_variant,,ENST00000484002,;BAI2,upstream_gene_variant,,ENST00000465256,;BAI2,downstream_gene_variant,,ENST00000468430,;BAI2,upstream_gene_variant,,ENST00000466109,;	2042	56	131	SUCCESS
ARTN	9048	.	GRCh37	1	44402421	44402421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	26	0	ENST00000372354.3:c.647G>T	p.Cys216Phe	p.C216F	ENST00000372354		216	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS502.1	671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTGCGGCT	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF9,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000387435	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000414809	Transcript	.	.	ENSG00000117407	727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ARTN_HUMAN	ARTN	HGNC	E9PN22_HUMAN	.	UPI00001AFA84	SNV	ARTN,missense_variant,p.Cys233Phe,ENST00000438616,;ARTN,missense_variant,p.Cys224Phe,ENST00000414809,;ARTN,missense_variant,p.Cys224Phe,ENST00000498139,;ARTN,missense_variant,p.Cys216Phe,ENST00000372354,;ARTN,missense_variant,p.Cys216Phe,ENST00000372359,;ARTN,downstream_gene_variant,,ENST00000472435,;ARTN,downstream_gene_variant,,ENST00000477048,;ARTN,downstream_gene_variant,,ENST00000471394,;ARTN,downstream_gene_variant,,ENST00000491846,;ARTN,downstream_gene_variant,,ENST00000474592,;ARTN,downstream_gene_variant,,ENST00000479128,;	1453	26	68	SUCCESS
ZFYVE9	9372	.	GRCh37	1	52705203	52705203	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	117	0	ENST00000287727.3:c.2114G>T	p.Cys705Phe	p.C705F	ENST00000287727	NM_004799.3	705	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS563.1	2114	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGCATGA	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR22835:SF127,hmmpanther:PTHR22835,Gene3D:3.30.40.10,Pfam_domain:PF01363,PIRSF_domain:PIRSF037289,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000287727	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000287727	Transcript	.	.	ENSG00000157077	6775	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZFYV9_HUMAN	ZFYVE9	HGNC	.	.	UPI0000001620	SNV	ZFYVE9,missense_variant,p.Cys705Phe,ENST00000371591,;ZFYVE9,missense_variant,p.Cys705Phe,ENST00000357206,;ZFYVE9,missense_variant,p.Cys705Phe,ENST00000287727,;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	2286	117	67	SUCCESS
SDCBP2-AS1	100507495	.	GRCh37	20	1349973	1349977	+	intron_variant,non_coding_transcript_variant	Intron	DEL	AAAGT	AAAGT	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	AAAGT	AAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	66	0	ENST00000609470.1:n.121-3749_121-3745del		p.*41*	ENST00000609470				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13014.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTGGAAAGTTATGA	NONE	.	.	.	.	.	ENSP00000383003	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000400137	Transcript	.	.	ENSG00000088832	3711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FKB1A_HUMAN	FKBP1A	HGNC	Q9UH88_HUMAN,Q0VDC6_HUMAN,Q0VDC5_HUMAN	.	UPI00001437D3	deletion	FKBP1A,3_prime_UTR_variant,,ENST00000400137,;FKBP1A,downstream_gene_variant,,ENST00000381715,;FKBP1A,downstream_gene_variant,,ENST00000381724,;FKBP1A,downstream_gene_variant,,ENST00000381719,;FKBP1A,downstream_gene_variant,,ENST00000439640,;SDCBP2-AS1,intron_variant,,ENST00000446423,;SDCBP2-AS1,intron_variant,,ENST00000609470,;SDCBP2-AS1,intron_variant,,ENST00000609285,;FKBP1A,intron_variant,,ENST00000474657,;FKBP1A,downstream_gene_variant,,ENST00000460490,;FKBP1A,downstream_gene_variant,,ENST00000474726,;	1267-1271	66	35	SUCCESS
MAFB	9935	.	GRCh37	20	39317800	39317800	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	rs567415398	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	39	0	ENST00000373313.2:c.-310del		p.*104*	ENST00000373313	NM_005461.4			0	.	T:0.0068	.	T:0.0014	.	-	.	protein_coding	YES	CCDS13311.1	.	INDELOCATOR|VARSCANI	.	CGAGTGCCCGTT	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000362410	T:0	1/1	.	.	.	.	.	.	.	.	rs567415398	1/1	PASS	ENST00000373313	Transcript	1	T:0.0020	ENSG00000204103	6408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	MAFB_HUMAN	MAFB	HGNC	.	.	UPI000012EB1D	deletion	MAFB,5_prime_UTR_variant,,ENST00000373313,;MAFB,upstream_gene_variant,,ENST00000396967,;	81	40	80	SUCCESS
SNAI1	6615	.	GRCh37	20	48599589	48599589	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	9	33	0	ENST00000244050.2:c.-8C>A		p.*3*	ENST00000244050	NM_005985.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13423.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCGACCA	NONE	.	.	.	.	.	ENSP00000244050	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000244050	Transcript	.	.	ENSG00000124216	11128	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNAI1_HUMAN	SNAI1	HGNC	.	.	UPI0000135B17	SNV	SNAI1,5_prime_UTR_variant,,ENST00000244050,;	54	33	95	SUCCESS
CHGB	1114	.	GRCh37	20	5904318	5904318	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	99	1	ENST00000378961.4:c.1528C>A	p.His510Asn	p.H510N	ENST00000378961	NM_001819.2	510	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS13092.1	1528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCACACA	NONE	.	.	Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583	.	.	ENSP00000368244	.	4/5	.	.	.	.	.	.	.	.	COSM3548477	4/5	PASS	ENST00000378961	Transcript	.	.	ENSG00000089199	1930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.678)	.	tolerated(0.31)	1	SCG1_HUMAN	CHGB	HGNC	.	.	UPI000013C63D	SNV	CHGB,missense_variant,p.His510Asn,ENST00000378961,;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	1732	100	114	SUCCESS
PCNT	5116	.	GRCh37	21	47850032	47850032	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762085456	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	47	147	0	ENST00000359568.5:c.7799C>T	p.Ala2600Val	p.A2600V	ENST00000359568	NM_006031.5	2600	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33592.1	7799	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGGCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	36/47	.	.	.	.	.	.	.	.	rs762085456	36/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.75)	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Ala2600Val,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,upstream_gene_variant,,ENST00000482575,;	7906	147	274	SUCCESS
TRIOBP	11078	.	GRCh37	22	38119347	38119347	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764470749	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	30	47	0	ENST00000406386.3:c.784G>A	p.Ala262Thr	p.A262T	ENST00000406386	NM_001039141.2	262	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43015.1	784	MUSE|VARSCANS	.	CTCCTGCCCAA	NONE	.	.	.	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs764470749	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	deleterious_low_confidence(0.02)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Ala262Thr,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	1039	47	111	SUCCESS
CBX6	23466	.	GRCh37	22	39262696	39262696	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	9	0	ENST00000407418.3:c.757T>C	p.Ser253Pro	p.S253P	ENST00000407418		253	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS13980.1	757	RADIA|VARSCANS	.	GGCTGAGGCCT	NONE	.	.	hmmpanther:PTHR22812:SF8,hmmpanther:PTHR22812	.	.	ENSP00000384490	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000407418	Transcript	.	.	ENSG00000183741	1556	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.08)	.	CBX6_HUMAN	CBX6	HGNC	.	.	UPI00001271FD	SNV	CBX6,missense_variant,p.Ser235Pro,ENST00000216083,;CBX6,missense_variant,p.Ser253Pro,ENST00000407418,;CBX6,downstream_gene_variant,,ENST00000469420,;	881	9	25	SUCCESS
TNRC6B	23112	.	GRCh37	22	40574047	40574047	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	179	0	ENST00000454349.2:c.-93A>C		p.*31*	ENST00000454349	NM_001162501.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54533.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGATAGAC	NONE	.	.	.	.	.	ENSP00000401946	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000454349	Transcript	.	.	ENSG00000100354	29190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR6B_HUMAN	TNRC6B	HGNC	.	.	UPI00017A6F19	SNV	TNRC6B,5_prime_UTR_variant,,ENST00000454349,;TNRC6B,5_prime_UTR_variant,,ENST00000335727,;TNRC6B,intron_variant,,ENST00000402203,;TNRC6B,intron_variant,,ENST00000301923,;TNRC6B,non_coding_transcript_exon_variant,,ENST00000489500,;	119	179	101	SUCCESS
SLC5A7	60482	.	GRCh37	2	108622601	108622601	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	50	79	0	ENST00000264047.2:c.838G>A	p.Gly280Arg	p.G280R	ENST00000264047	NM_021815.2	280	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS2074.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGGGTGC	BUFFER|p.F279I|c.835T>A|4	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474	.	.	ENSP00000264047	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000264047	Transcript	.	.	ENSG00000115665	14025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	SC5A7_HUMAN	SLC5A7	HGNC	Q2T9H3_HUMAN,F5H382_HUMAN	.	UPI0000070792	SNV	SLC5A7,missense_variant,p.Gly280Arg,ENST00000264047,;SLC5A7,missense_variant,p.Gly175Arg,ENST00000540517,;SLC5A7,missense_variant,p.Gly280Arg,ENST00000409059,;	1114	79	121	SUCCESS
ANKRD30BL	554226	.	GRCh37	2	132919310	132919310	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	31	0	ENST00000409867.1:c.-32G>T		p.*11*	ENST00000409867				0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGCCTCCC	NONE	.	.	.	.	.	ENSP00000295181	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000295181	Transcript	.	.	ENSG00000163046	35167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A30BL_HUMAN	ANKRD30BL	HGNC	.	.	UPI000022BC26	SNV	ANKRD30BL,5_prime_UTR_variant,,ENST00000409867,;ANKRD30BL,intron_variant,,ENST00000470729,;ANKRD30BL,upstream_gene_variant,,ENST00000471048,;ANKRD30BL,5_prime_UTR_variant,,ENST00000295181,;ANKRD30BL,non_coding_transcript_exon_variant,,ENST00000481691,;	219	31	73	SUCCESS
KYNU	8942	.	GRCh37	2	143718192	143718192	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	70	0	ENST00000264170.4:c.583-1G>A		p.X195_splice	ENST00000264170	NM_003937.2	195		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2183.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAGGGGGA	NONE	.	.	.	.	.	ENSP00000264170	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264170	Transcript	.	.	ENSG00000115919	6469	.	.	HIGH	7/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KYNU_HUMAN	KYNU	HGNC	Q53SY0_HUMAN,Q53SX6_HUMAN	.	UPI000012E176	SNV	KYNU,splice_acceptor_variant,,ENST00000264170,;KYNU,splice_acceptor_variant,,ENST00000375773,;KYNU,splice_acceptor_variant,,ENST00000409512,;KYNU,downstream_gene_variant,,ENST00000460143,;	.	70	45	SUCCESS
SCN2A	6326	.	GRCh37	2	166211045	166211045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	186	80	271	0	ENST00000283256.6:c.3263A>G	p.Asp1088Gly	p.D1088G	ENST00000283256	NM_021007.2	1088	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS33313.1	3263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGATGAAA	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF06512	.	.	ENSP00000349973	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	tolerated(0.06)	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,missense_variant,p.Asp1088Gly,ENST00000283256,;SCN2A,missense_variant,p.Asp1088Gly,ENST00000375437,;SCN2A,missense_variant,p.Asp1088Gly,ENST00000375427,;SCN2A,missense_variant,p.Asp1088Gly,ENST00000357398,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	3553	271	267	SUCCESS
TTC30A	92104	.	GRCh37	2	178483360	178483360	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	37	0	ENST00000355689.5:c.70G>C	p.Asp24His	p.D24H	ENST00000355689	NM_152275.3	24	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS2276.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCGCGGA	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR20931,hmmpanther:PTHR20931:SF3,PROSITE_profiles:PS50293	.	.	ENSP00000347915	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355689	Transcript	.	.	ENSG00000197557	25853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	deleterious(0)	.	TT30A_HUMAN	TTC30A	HGNC	.	.	UPI0000209161	SNV	TTC30A,missense_variant,p.Asp24His,ENST00000355689,;PDE11A,downstream_gene_variant,,ENST00000286063,;AC073834.3,downstream_gene_variant,,ENST00000357045,;	335	37	57	SUCCESS
PER2	8864	.	GRCh37	2	239167286	239167286	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1161258742	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	83	0	ENST00000254657.3:c.1628-1G>A		p.X543_splice	ENST00000254657	NM_022817.2	543		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2528.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCTGAAG	NONE	.	.	.	.	.	ENSP00000254657	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	HIGH	14/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,splice_acceptor_variant,,ENST00000254658,;PER2,splice_acceptor_variant,,ENST00000254657,;PER2,downstream_gene_variant,,ENST00000355768,;PER2,downstream_gene_variant,,ENST00000440245,;AC096574.4,downstream_gene_variant,,ENST00000456601,;PER2,downstream_gene_variant,,ENST00000491417,;	.	83	117	SUCCESS
TRMT61B	55006	.	GRCh37	2	29075273	29075273	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1443438783	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	51	190	1	ENST00000306108.5:c.1085+1G>A		p.X362_splice	ENST00000306108	NM_017910.3	362		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1768.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACTTTAC	NONE	.	.	.	.	.	ENSP00000302801	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306108	Transcript	.	.	ENSG00000171103	26070	.	.	HIGH	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR61B_HUMAN	TRMT61B	HGNC	.	.	UPI000006D28C	SNV	TRMT61B,splice_donor_variant,,ENST00000306108,;SPDYA,downstream_gene_variant,,ENST00000334056,;SPDYA,downstream_gene_variant,,ENST00000439646,;TRMT61B,upstream_gene_variant,,ENST00000419999,;SPDYA,downstream_gene_variant,,ENST00000379579,;TRMT61B,splice_donor_variant,,ENST00000484060,;SPDYA,downstream_gene_variant,,ENST00000491044,;TRMT61B,splice_donor_variant,,ENST00000490390,;TRMT61B,splice_donor_variant,,ENST00000439947,;	.	191	178	SUCCESS
SRSF7	6432	.	GRCh37	2	38976737	38976737	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1018971891	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	299	172	257	1	ENST00000313117.6:c.320A>G	p.Tyr107Cys	p.Y107C	ENST00000313117	NM_001195446.1	107	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33183.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCATAGCAT	NONE	.	.	PROSITE_profiles:PS50158,hmmpanther:PTHR10548,Gene3D:4.10.60.10,Superfamily_domains:SSF57756	.	.	ENSP00000325905	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000313117	Transcript	.	.	ENSG00000115875	10789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SRSF7_HUMAN	SRSF7	HGNC	.	.	UPI000000D853	SNV	SRSF7,missense_variant,p.Tyr107Cys,ENST00000313117,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000446327,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000409276,;SRSF7,upstream_gene_variant,,ENST00000452806,;GEMIN6,upstream_gene_variant,,ENST00000409011,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000431066,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000425778,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000443213,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000425941,;SRSF7,missense_variant,p.Tyr23Cys,ENST00000415527,;SRSF7,upstream_gene_variant,,ENST00000477635,;SRSF7,upstream_gene_variant,,ENST00000432873,;SRSF7,upstream_gene_variant,,ENST00000487773,;	558	258	472	SUCCESS
MTIF2	4528	.	GRCh37	2	55470647	55470647	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	555	82	649	0	ENST00000263629.4:c.1469del	p.Ser490Ter	p.S490*	ENST00000263629	NM_002453.2	490	tCa/ta	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS1853.1	1469	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAATTGATCTC	NONE	.	.	HAMAP:MF_00100_B,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF113	.	.	ENSP00000378099	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000394600	Transcript	.	.	ENSG00000085760	7441	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IF2M_HUMAN	MTIF2	HGNC	E7EW07_HUMAN,E7ESE3_HUMAN,C9JIY5_HUMAN,B5MCU1_HUMAN	.	UPI000013D42F	deletion	MTIF2,frameshift_variant,p.Ser168Ter,ENST00000418823,;MTIF2,frameshift_variant,p.Ser490Ter,ENST00000394600,;MTIF2,frameshift_variant,p.Ser490Ter,ENST00000403721,;MTIF2,frameshift_variant,p.Ser490Ter,ENST00000263629,;	2206	649	637	SUCCESS
CCDC88A	55704	.	GRCh37	2	55582881	55582881	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	70	0	ENST00000436346.1:c.634A>G	p.Ile212Val	p.I212V	ENST00000436346	NM_001135597.1	212	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46288.1	634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATGATAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30,Pfam_domain:PF05622	.	.	ENSP00000338728	.	8/33	.	.	.	.	.	.	.	.	COSM1614966,COSM1614965	8/33	PASS	ENST00000336838	Transcript	.	.	ENSG00000115355	25523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.001)	.	tolerated(1)	1,1	GRDN_HUMAN	CCDC88A	HGNC	C9J225_HUMAN,B4DSN0_HUMAN	.	UPI00005B7220	SNV	CCDC88A,missense_variant,p.Ile212Val,ENST00000413716,;CCDC88A,missense_variant,p.Ile212Val,ENST00000336838,;CCDC88A,missense_variant,p.Ile137Val,ENST00000430086,;CCDC88A,missense_variant,p.Ile212Val,ENST00000436346,;CCDC88A,missense_variant,p.Ile212Val,ENST00000263630,;	1168	70	70	SUCCESS
PEX13	5194	.	GRCh37	2	61245411	61245411	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	46	0	ENST00000295030.5:c.92+425C>A		p.*31*	ENST00000295030	NM_002618.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1866.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCGAGAA	NONE	.	.	.	.	.	ENSP00000295030	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,3_prime_UTR_variant,,ENST00000444100,;PEX13,3_prime_UTR_variant,,ENST00000414712,;PEX13,3_prime_UTR_variant,,ENST00000401576,;PEX13,intron_variant,,ENST00000295030,;PUS10,upstream_gene_variant,,ENST00000407787,;PUS10,upstream_gene_variant,,ENST00000316752,;PUS10,upstream_gene_variant,,ENST00000421319,;PUS10,upstream_gene_variant,,ENST00000398658,;PEX13,intron_variant,,ENST00000472678,;PUS10,upstream_gene_variant,,ENST00000602599,;PUS10,upstream_gene_variant,,ENST00000430495,;	.	46	72	SUCCESS
CTNNA2	1496	.	GRCh37	2	80782831	80782831	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	50	0	ENST00000402739.4:c.1554G>C	p.Leu518Phe	p.L518F	ENST00000402739	NM_001282597.1	518	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS42703.2	1554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTGGAGGA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	16/22	.	.	.	.	.	.	.	.	COSM722235,COSM722234	16/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.997)	.	deleterious(0.01)	1,1	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Leu518Phe,ENST00000496558,;CTNNA2,missense_variant,p.Leu552Phe,ENST00000361291,;CTNNA2,missense_variant,p.Leu518Phe,ENST00000541047,;CTNNA2,missense_variant,p.Leu197Phe,ENST00000343114,;CTNNA2,missense_variant,p.Leu518Phe,ENST00000540488,;CTNNA2,missense_variant,p.Leu518Phe,ENST00000466387,;CTNNA2,missense_variant,p.Leu183Phe,ENST00000409550,;CTNNA2,missense_variant,p.Leu518Phe,ENST00000402739,;	2278	50	22	SUCCESS
EIF2AK3	9451	.	GRCh37	2	88874198	88874198	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781534136	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	28	162	1	ENST00000303236.3:c.2803C>T	p.His935Tyr	p.H935Y	ENST00000303236	NM_004836.5	935	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS33241.1	2803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGCATCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS00108,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF38,PROSITE_profiles:PS50011	.	.	ENSP00000307235	.	13/17	.	.	.	.	.	.	.	.	rs781534136	13/17	PASS	ENST00000303236	Transcript	.	.	ENSG00000172071	3255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	E2AK3_HUMAN	EIF2AK3	HGNC	E7ER02_HUMAN	.	UPI000013E87D	SNV	EIF2AK3,missense_variant,p.His784Tyr,ENST00000419748,;EIF2AK3,missense_variant,p.His935Tyr,ENST00000303236,;EIF2AK3,missense_variant,p.His814Tyr,ENST00000415570,;AC104134.2,non_coding_transcript_exon_variant,,ENST00000413234,;EIF2AK3,non_coding_transcript_exon_variant,,ENST00000470706,;EIF2AK3,downstream_gene_variant,,ENST00000478003,;	3105	163	116	SUCCESS
ALG1L2	644974	.	GRCh37	3	129811029	129811029	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs191831656	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	96	125	0	ENST00000425059.1:n.403C>A		p.*135*	ENST00000425059				0	.	T:0.0008	.	T:0	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGCGGCCA	NONE	byFrequency|by1000G	.	.	T:0.0069	.	.	T:0	.	.	.	.	.	.	.	.	.	rs191831656	.	PASS	ENST00000514010	Transcript	.	T:0.0018	ENSG00000248243	.	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	.	RP11-93K22.13	Clone_based_vega_gene	.	.	.	SNV	RP11-93K22.13,intron_variant,,ENST00000514010,;AC083906.2,upstream_gene_variant,,ENST00000578837,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000503500,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000507643,;ALG1L2,upstream_gene_variant,,ENST00000511726,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000425059,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000506370,;	.	125	275	SUCCESS
NPHP3	27031	.	GRCh37	3	132407637	132407637	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	265	54	301	1	ENST00000337331.5:c.2982A>G	p.Val994=	p.V994=	ENST00000337331	NM_153240.4	994	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3078.1	2982	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTATACACT	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13424,hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000338766	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000337331	Transcript	.	.	ENSG00000113971	7907	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPHP3_HUMAN	NPHP3	HGNC	.	.	UPI00001B6B30	SNV	NPHP3,synonymous_variant,p.%3D,ENST00000337331,;NPHP3,3_prime_UTR_variant,,ENST00000326682,;NPHP3,upstream_gene_variant,,ENST00000512094,;NPHP3,3_prime_UTR_variant,,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;NPHP3,non_coding_transcript_exon_variant,,ENST00000474871,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;NPHP3,upstream_gene_variant,,ENST00000493732,;NPHP3,downstream_gene_variant,,ENST00000515289,;	3069	302	320	SUCCESS
CNTN6	27255	.	GRCh37	3	1371531	1371531	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1481833174	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	57	459	1	ENST00000350110.2:c.1276G>A	p.Asp426Asn	p.D426N	ENST00000350110	NM_014461.2	426	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2557.1	1276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGATATT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000407822	.	11/23	.	.	.	.	.	.	.	.	COSM280003	11/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	tolerated(0.1)	1	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Asp354Asn,ENST00000539053,;CNTN6,missense_variant,p.Asp426Asn,ENST00000446702,;CNTN6,missense_variant,p.Asp426Asn,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	1903	460	160	SUCCESS
CNTN6	27255	.	GRCh37	3	1371532	1371532	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	56	462	0	ENST00000350110.2:c.1277A>T	p.Asp426Val	p.D426V	ENST00000350110	NM_014461.2	426	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2557.1	1277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGATATTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000407822	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated(0.08)	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Asp354Val,ENST00000539053,;CNTN6,missense_variant,p.Asp426Val,ENST00000446702,;CNTN6,missense_variant,p.Asp426Val,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	1904	462	159	SUCCESS
NLGN1	22871	.	GRCh37	3	173996955	173996955	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	30	178	0	ENST00000457714.1:c.1165del	p.Gln389LysfsTer5	p.Q389Kfs*5	ENST00000457714	NM_014932.3	388	aaC/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS3222.1	1164	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTGAACCAAGG	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	6/7	.	.	.	.	.	.	.	.	COSM402398	6/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	deletion	NLGN1,frameshift_variant,p.Gln429LysfsTer5,ENST00000401917,;NLGN1,frameshift_variant,p.Gln389LysfsTer5,ENST00000457714,;NLGN1,frameshift_variant,p.Gln389LysfsTer5,ENST00000361589,;NLGN1,frameshift_variant,p.Gln389LysfsTer5,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;NLGN1,downstream_gene_variant,,ENST00000469727,;	1593	178	133	SUCCESS
PDCD6IP	10015	.	GRCh37	3	33840383	33840383	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1242344780	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	16	0	ENST00000307296.3:c.163G>A	p.Gly55Ser	p.G55S	ENST00000307296		55	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS54561.1	163	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGGTCGT	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23030:SF19,hmmpanther:PTHR23030,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041	.	.	ENSP00000411825	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000457054	Transcript	.	.	ENSG00000170248	8766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.42)	.	PDC6I_HUMAN	PDCD6IP	HGNC	.	.	UPI00004121D3	SNV	PDCD6IP,missense_variant,p.Gly55Ser,ENST00000413073,;PDCD6IP,missense_variant,p.Gly55Ser,ENST00000307296,;PDCD6IP,missense_variant,p.Gly55Ser,ENST00000457054,;RP11-10C24.3,upstream_gene_variant,,ENST00000604982,;RP11-10C24.2,upstream_gene_variant,,ENST00000605502,;RP11-10C24.1,upstream_gene_variant,,ENST00000605513,;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000477798,;PDCD6IP,upstream_gene_variant,,ENST00000498147,;PDCD6IP,missense_variant,p.Gly55Ser,ENST00000435909,;PDCD6IP,missense_variant,p.Gly55Ser,ENST00000430877,;	318	16	33	SUCCESS
TLR9	54106	.	GRCh37	3	52255499	52255499	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	19	0	ENST00000360658.2:c.2833G>A	p.Gly945Ser	p.G945S	ENST00000360658	NM_017442.3	945	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	.	3295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACCACTGA	NONE	.	.	PROSITE_profiles:PS50104,Pfam_domain:PF01582,Gene3D:3.40.50.10140,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000417517	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000494383	Transcript	.	.	ENSG00000173366	15633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.652)	.	deleterious(0.01)	.	.	TLR9	Uniprot_gn	C3W5P5_HUMAN	.	UPI0001B795AC	SNV	TLR9,missense_variant,p.Gly1099Ser,ENST00000494383,;TLR9,missense_variant,p.Gly969Ser,ENST00000597542,;TLR9,missense_variant,p.Gly945Ser,ENST00000360658,;TLR9,downstream_gene_variant,,ENST00000478201,;	3293	19	47	SUCCESS
CADPS	8618	.	GRCh37	3	62518698	62518698	+	synonymous_variant	Silent	SNP	G	G	A	rs142840753	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	62	0	ENST00000383710.4:c.2139C>T	p.Asp713=	p.D713=	ENST00000383710	NM_003716.3	713	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS46858.1	2139	RADIA|VARSCANS	.	TACTCGTCTAG	NONE	byCluster	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	A:0.0001	ENSP00000373215	.	13/30	.	.	.	.	.	.	.	.	rs142840753,COSM149407	13/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,synonymous_variant,p.%3D,ENST00000357948,;CADPS,synonymous_variant,p.%3D,ENST00000468271,;CADPS,synonymous_variant,p.%3D,ENST00000383710,;CADPS,synonymous_variant,p.%3D,ENST00000478434,;CADPS,synonymous_variant,p.%3D,ENST00000542833,;CADPS,synonymous_variant,p.%3D,ENST00000283269,;CADPS,synonymous_variant,p.%3D,ENST00000491424,;CADPS,downstream_gene_variant,,ENST00000490424,;	2489	62	35	SUCCESS
ROBO2	6092	.	GRCh37	3	77089848	77089848	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	21	76	0	ENST00000461745.1:c.-89A>G		p.*30*	ENST00000461745	NM_002942.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54609.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGACCTAC	NONE	.	.	.	.	.	ENSP00000417335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODIFIER	2/26	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,5_prime_UTR_variant,,ENST00000461745,;ROBO2,intron_variant,,ENST00000602589,;ROBO2,intron_variant,,ENST00000487694,;ROBO2,upstream_gene_variant,,ENST00000332191,;ROBO2,intron_variant,,ENST00000475034,;ROBO2,upstream_gene_variant,,ENST00000473767,;	.	76	102	SUCCESS
FGFRL1	53834	.	GRCh37	4	1015991	1015991	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	33	0	ENST00000264748.6:c.80G>T	p.Gly27Val	p.G27V	ENST00000264748	NM_021923.3	27	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3344.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19890:SF5,hmmpanther:PTHR19890	.	.	ENSP00000381498	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000398484	Transcript	.	.	ENSG00000127418	3693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FGRL1_HUMAN	FGFRL1	HGNC	D6REM7_HUMAN,D6RBN8_HUMAN,A0PJ49_HUMAN	.	UPI000003ED0B	SNV	FGFRL1,missense_variant,p.Gly27Val,ENST00000264748,;FGFRL1,missense_variant,p.Gly27Val,ENST00000398484,;FGFRL1,missense_variant,p.Gly27Val,ENST00000507339,;FGFRL1,missense_variant,p.Gly27Val,ENST00000512174,;FGFRL1,missense_variant,p.Gly27Val,ENST00000504138,;FGFRL1,missense_variant,p.Gly27Val,ENST00000510644,;	660	33	96	SUCCESS
PLK4	10733	.	GRCh37	4	128806961	128806961	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1044647621	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	105	207	0	ENST00000270861.5:c.436C>T	p.Arg146Cys	p.R146C	ENST00000270861	NM_014264.4	146	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3735.1	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTCGTAAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000270861	.	5/16	.	.	.	.	.	.	.	.	COSM1051111	5/16	PASS	ENST00000270861	Transcript	1	.	ENSG00000142731	11397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.932)	.	deleterious(0.03)	1	PLK4_HUMAN	PLK4	HGNC	.	.	UPI000007426E	SNV	PLK4,missense_variant,p.Arg114Cys,ENST00000513090,;PLK4,missense_variant,p.Arg146Cys,ENST00000515069,;PLK4,missense_variant,p.Arg146Cys,ENST00000507249,;PLK4,missense_variant,p.Arg146Cys,ENST00000270861,;PLK4,missense_variant,p.Arg105Cys,ENST00000514379,;PLK4,downstream_gene_variant,,ENST00000511942,;PLK4,upstream_gene_variant,,ENST00000510605,;PLK4,downstream_gene_variant,,ENST00000503914,;	710	207	309	SUCCESS
INPP4B	8821	.	GRCh37	4	143043286	143043286	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	160	2	ENST00000262992.4:c.2130A>G	p.Gly710=	p.G710=	ENST00000262992	NM_001101669.1	710	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS3757.1	2130	RADIA|SOMATICSNIPER|VARSCANS	.	CGTCTTCCTGT	NONE	.	.	hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,synonymous_variant,p.%3D,ENST00000511838,;INPP4B,synonymous_variant,p.%3D,ENST00000508116,;INPP4B,synonymous_variant,p.%3D,ENST00000509777,;INPP4B,synonymous_variant,p.%3D,ENST00000514525,;INPP4B,synonymous_variant,p.%3D,ENST00000262992,;INPP4B,synonymous_variant,p.%3D,ENST00000513000,;INPP4B,synonymous_variant,p.%3D,ENST00000308502,;INPP4B,synonymous_variant,p.%3D,ENST00000510812,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;	2564	162	71	SUCCESS
LPHN3	0	.	GRCh37	4	62849309	62849309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	98	243	0	ENST00000514591.1:c.3020G>T	p.Gly1007Val	p.G1007V	ENST00000514591		1007	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54768.1	3020	SOMATICSNIPER|MUSE|VARSCANS	.	TTATGGAACAG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000422533	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Gly1075Val,ENST00000507625,;LPHN3,missense_variant,p.Gly1007Val,ENST00000508946,;LPHN3,missense_variant,p.Gly1007Val,ENST00000506700,;LPHN3,missense_variant,p.Gly465Val,ENST00000502815,;LPHN3,missense_variant,p.Gly1075Val,ENST00000509896,;LPHN3,missense_variant,p.Gly1075Val,ENST00000511324,;LPHN3,missense_variant,p.Gly1007Val,ENST00000545650,;LPHN3,missense_variant,p.Gly1075Val,ENST00000506720,;LPHN3,missense_variant,p.Gly1007Val,ENST00000504896,;LPHN3,missense_variant,p.Gly1007Val,ENST00000514591,;LPHN3,missense_variant,p.Gly1075Val,ENST00000508693,;LPHN3,missense_variant,p.Gly1075Val,ENST00000506746,;LPHN3,missense_variant,p.Gly1007Val,ENST00000514996,;LPHN3,missense_variant,p.Gly1007Val,ENST00000512091,;LPHN3,missense_variant,p.Gly1007Val,ENST00000514157,;LPHN3,missense_variant,p.Gly1075Val,ENST00000507164,;	3349	243	196	SUCCESS
UGT2A2	574537	.	GRCh37	4	70455333	70455333	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755526328	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	127	291	0	ENST00000457664.2:c.1368C>A	p.His456Gln	p.H456Q	ENST00000457664	NM_001105677.2	456	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS58902.1	1839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGTGAAT	BUFFER|p.R445I|c.1334G>T|3	.	.	hmmpanther:PTHR11926:SF116,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000425497	.	7/7	.	.	.	.	.	.	.	.	rs755526328	7/7	PASS	ENST00000514019	Transcript	.	.	ENSG00000270386	12542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	tolerated(0.16)	.	UD2A1_HUMAN	UGT2A1	HGNC	D6RHF3_HUMAN	.	UPI0001AE74CB	SNV	UGT2A1,missense_variant,p.His447Gln,ENST00000286604,;UGT2A1,missense_variant,p.His613Gln,ENST00000514019,;UGT2A1,missense_variant,p.His447Gln,ENST00000503640,;UGT2A2,missense_variant,p.His413Gln,ENST00000604021,;UGT2A2,missense_variant,p.His456Gln,ENST00000457664,;UGT2A1,missense_variant,p.His403Gln,ENST00000512704,;UGT2A2,missense_variant,p.His457Gln,ENST00000604629,;UGT2A1,non_coding_transcript_exon_variant,,ENST00000502343,;RP11-401E5.2,upstream_gene_variant,,ENST00000506662,;	1955	292	268	SUCCESS
C4orf40	0	.	GRCh37	4	71024516	71024516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	90	141	0	ENST00000344526.5:c.547C>A	p.Pro183Thr	p.P183T	ENST00000344526	NM_214711.3	183	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3535.1	547	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACCTGTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000343172	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000344526	Transcript	.	.	ENSG00000187533	33193	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	CD040_HUMAN	C4orf40	HGNC	.	.	UPI0000036170	SNV	C4orf40,missense_variant,p.Pro183Thr,ENST00000344526,;C4orf40,missense_variant,p.Pro183Thr,ENST00000502294,;C4orf40,downstream_gene_variant,,ENST00000502441,;C4orf40,missense_variant,p.Pro25Thr,ENST00000512173,;C4orf40,3_prime_UTR_variant,,ENST00000509633,;	736	141	313	SUCCESS
FBN2	2201	.	GRCh37	5	127610344	127610344	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	89	1	ENST00000262464.4:c.7626C>A	p.Asn2542Lys	p.N2542K	ENST00000262464	NM_001999.3	2542	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS34222.1	7626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAGTTATG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	66/71	.	.	.	.	.	.	.	.	.	66/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Asn2542Lys,ENST00000262464,;FBN2,missense_variant,p.Asn2542Lys,ENST00000508053,;	8601	90	56	SUCCESS
PCBD2	84105	.	GRCh37	5	134246024	134246024	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	21	92	0	ENST00000254908.6:c.85-1G>C		p.X29_splice	ENST00000254908		29		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43364.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCATAGTCATC	NONE	.	.	.	.	.	ENSP00000421544	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000512783	Transcript	.	.	ENSG00000132570	24474	.	.	HIGH	1/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHS2_HUMAN	PCBD2	HGNC	H0YA52_HUMAN	.	UPI000013F545	SNV	PCBD2,splice_acceptor_variant,,ENST00000512783,;PCBD2,splice_acceptor_variant,,ENST00000254908,;PCBD2,splice_acceptor_variant,,ENST00000510013,;PCBD2,splice_acceptor_variant,,ENST00000504352,;	.	92	114	SUCCESS
DBN1	1627	.	GRCh37	5	176895871	176895871	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	23	91	0	ENST00000309007.5:c.116A>T	p.Asp39Val	p.D39V	ENST00000309007	NM_004395.3	39	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS4421.1	122	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCGGAG	NONE	.	.	Superfamily_domains:SSF55753,SMART_domains:SM00102,Gene3D:3.40.20.10,Pfam_domain:PF00241,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829,PROSITE_profiles:PS51263	.	.	ENSP00000292385	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Asp39Val,ENST00000309007,;DBN1,missense_variant,p.Asp41Val,ENST00000292385,;DBN1,missense_variant,p.Asp39Val,ENST00000477391,;DBN1,missense_variant,p.Asp39Val,ENST00000393565,;DBN1,missense_variant,p.Asp39Val,ENST00000514833,;DBN1,5_prime_UTR_variant,,ENST00000506117,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,non_coding_transcript_exon_variant,,ENST00000505550,;DBN1,upstream_gene_variant,,ENST00000471767,;	732	91	150	SUCCESS
EGFLAM	133584	.	GRCh37	5	38370498	38370498	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369204325	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	43	0	ENST00000354891.3:c.646G>T	p.Val216Leu	p.V216L	ENST00000354891	NM_001205301.1	216	Gtg/Ttg	0	A:0.0005	.	.	.	.	T	V/L	protein_coding	YES	CCDS56363.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCGTGAGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	A:0	ENSP00000346964	.	6/23	.	.	.	.	.	.	.	.	rs369204325	6/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.291)	.	tolerated_low_confidence(0.09)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Val216Leu,ENST00000354891,;EGFLAM,missense_variant,p.Val216Leu,ENST00000322350,;	992	44	31	SUCCESS
RPL37	6167	.	GRCh37	5	40835365	40835365	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	19	0	ENST00000274242.5:c.-78C>T		p.*26*	ENST00000274242	NM_000997.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3934.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGGAAG	NONE	.	.	.	.	.	ENSP00000274242	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000274242	Transcript	.	.	ENSG00000145592	10347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL37_HUMAN	RPL37	HGNC	.	.	UPI0000003E50	SNV	RPL37,5_prime_UTR_variant,,ENST00000274242,;RPL37,upstream_gene_variant,,ENST00000508493,;RPL37,upstream_gene_variant,,ENST00000509877,;SNORD72,upstream_gene_variant,,ENST00000390994,;RPL37,upstream_gene_variant,,ENST00000511787,;RPL37,upstream_gene_variant,,ENST00000507642,;RPL37,upstream_gene_variant,,ENST00000504562,;	73	19	25	SUCCESS
PDE4D	5144	.	GRCh37	5	58511778	58511778	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	49	0	ENST00000340635.6:c.472G>A	p.Gly158Ser	p.G158S	ENST00000340635	NM_001104631.1	158	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS47213.1	472	RADIA|VARSCANS	.	TGTGCCATTGT	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF91	.	.	ENSP00000345502	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.945)	.	deleterious_low_confidence(0)	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,missense_variant,p.Gly28Ser,ENST00000503258,;PDE4D,missense_variant,p.Gly97Ser,ENST00000546160,;PDE4D,missense_variant,p.Gly22Ser,ENST00000360047,;PDE4D,missense_variant,p.Gly158Ser,ENST00000340635,;PDE4D,missense_variant,p.Gly36Ser,ENST00000405755,;PDE4D,missense_variant,p.Gly94Ser,ENST00000507116,;PDE4D,missense_variant,p.Gly94Ser,ENST00000502575,;PDE4D,missense_variant,p.Gly97Ser,ENST00000502484,;PDE4D,intron_variant,,ENST00000505453,;PDE4D,non_coding_transcript_exon_variant,,ENST00000405053,;PDE4D,non_coding_transcript_exon_variant,,ENST00000503947,;PDE4D,upstream_gene_variant,,ENST00000515324,;PDE4D,missense_variant,p.Gly94Ser,ENST00000309641,;PDE4D,non_coding_transcript_exon_variant,,ENST00000514231,;	648	49	26	SUCCESS
PDE4D	5144	.	GRCh37	5	58882174	58882174	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	67	203	0	ENST00000340635.6:c.455+306821A>G		p.*152*	ENST00000340635	NM_001104631.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTAAAGG	NONE	.	.	.	.	.	ENSP00000345502	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODIFIER	1/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,missense_variant,p.Arg10Gly,ENST00000360047,;PDE4D,5_prime_UTR_variant,,ENST00000505453,;PDE4D,intron_variant,,ENST00000546160,;PDE4D,intron_variant,,ENST00000340635,;PDE4D,intron_variant,,ENST00000507116,;PDE4D,intron_variant,,ENST00000502484,;PDE4D,intron_variant,,ENST00000502575,;PDE4D,intron_variant,,ENST00000405053,;PDE4D,intron_variant,,ENST00000512069,;PDE4D,intron_variant,,ENST00000309641,;PDE4D,intron_variant,,ENST00000514231,;	.	203	150	SUCCESS
GPR98	0	.	GRCh37	5	89953983	89953983	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	27	198	0	ENST00000405460.2:c.4640C>T	p.Ser1547Phe	p.S1547F	ENST00000405460	NM_032119.3	1547	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS47246.1	4640	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCTGTAT	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	21/90	.	.	.	.	.	.	.	.	COSM3618583	21/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.962)	.	.	1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ser1547Phe,ENST00000405460,;GPR98,downstream_gene_variant,,ENST00000504142,;	4736	198	206	SUCCESS
RHOBTB3	22836	.	GRCh37	5	95091309	95091309	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772887011	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	23	228	0	ENST00000379982.3:c.892A>G	p.Ile298Val	p.I298V	ENST00000379982	NM_014899.3	298	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4077.1	892	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTATCATC	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24072:SF122,hmmpanther:PTHR24072,Pfam_domain:PF00651,SMART_domains:SM00225	.	.	ENSP00000369318	.	6/12	.	.	.	.	.	.	.	.	rs772887011	6/12	PASS	ENST00000379982	Transcript	.	.	ENSG00000164292	18757	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.57)	.	RHBT3_HUMAN	RHOBTB3	HGNC	.	.	UPI0000367303	SNV	RHOBTB3,missense_variant,p.Ile298Val,ENST00000379982,;GLRX,intron_variant,,ENST00000508780,;RHOBTB3,3_prime_UTR_variant,,ENST00000502541,;RHOBTB3,non_coding_transcript_exon_variant,,ENST00000504949,;RHOBTB3,downstream_gene_variant,,ENST00000510623,;	1400	228	144	SUCCESS
REV3L	5980	.	GRCh37	6	111678241	111678241	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	49	232	0	ENST00000358835.3:c.7160A>T	p.His2387Leu	p.H2387L	ENST00000358835		2387	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5091.2	7160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCATGAAAA	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00486,Gene3D:3.30.420.10,Pfam_domain:PF03104,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.03)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.His2387Leu,ENST00000358835,;REV3L,missense_variant,p.His2387Leu,ENST00000368802,;REV3L,missense_variant,p.His2387Leu,ENST00000368805,;REV3L,missense_variant,p.His2309Leu,ENST00000435970,;REV3L-IT1,downstream_gene_variant,,ENST00000411895,;REV3L,missense_variant,p.Met180Leu,ENST00000413831,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,non_coding_transcript_exon_variant,,ENST00000467500,;FCF1P5,downstream_gene_variant,,ENST00000406490,;	7615	232	162	SUCCESS
REPS1	85021	.	GRCh37	6	139308889	139308889	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	8	0	ENST00000450536.2:c.-70G>T		p.*24*	ENST00000450536	NM_001286611.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5193.2	.	MUTECT|MUSE|VARSCANS	.	TGGGCCGGCAG	NONE	.	.	.	.	.	ENSP00000258062	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000258062	Transcript	.	.	ENSG00000135597	15578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REPS1_HUMAN	REPS1	HGNC	.	.	UPI000020E30A	SNV	REPS1,5_prime_UTR_variant,,ENST00000409812,;REPS1,5_prime_UTR_variant,,ENST00000258062,;REPS1,5_prime_UTR_variant,,ENST00000450536,;REPS1,5_prime_UTR_variant,,ENST00000367663,;REPS1,upstream_gene_variant,,ENST00000529597,;REPS1,upstream_gene_variant,,ENST00000415951,;REPS1,upstream_gene_variant,,ENST00000531675,;REPS1,5_prime_UTR_variant,,ENST00000483468,;REPS1,5_prime_UTR_variant,,ENST00000445570,;	510	8	37	SUCCESS
UTRN	7402	.	GRCh37	6	144758707	144758707	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	50	0	ENST00000367545.3:c.1066A>G	p.Met356Val	p.M356V	ENST00000367545	NM_007124.2	356	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34547.1	1066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTATGATG	NONE	.	.	hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000356515	.	10/74	.	.	.	.	.	.	.	.	.	10/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,missense_variant,p.Met356Val,ENST00000367545,;	1066	50	49	SUCCESS
JARID2	3720	.	GRCh37	6	15507624	15507624	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	44	61	0	ENST00000341776.2:c.2708T>A	p.Leu903Gln	p.L903Q	ENST00000341776	NM_004973.3	903	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4533.1	2708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGCGTC	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR10694,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000341280	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Leu731Gln,ENST00000397311,;JARID2,missense_variant,p.Leu865Gln,ENST00000541660,;JARID2,missense_variant,p.Leu903Gln,ENST00000341776,;JARID2,non_coding_transcript_exon_variant,,ENST00000474854,;	2952	61	134	SUCCESS
C6orf120	387263	.	GRCh37	6	170102867	170102867	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	15	0	ENST00000332290.2:c.312G>T	p.Val104=	p.V104=	ENST00000332290	NM_001029863.1	104	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS34575.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGTCCAT	NONE	.	.	hmmpanther:PTHR31703	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,synonymous_variant,p.%3D,ENST00000439249,;C6orf120,synonymous_variant,p.%3D,ENST00000332290,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;PHF10,downstream_gene_variant,,ENST00000366780,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;PHF10,downstream_gene_variant,,ENST00000339209,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	611	15	18	SUCCESS
OR11A1	26531	.	GRCh37	6	29395051	29395051	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1188530059	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	53	0	ENST00000377147.2:c.368G>A	p.Arg123His	p.R123H	ENST00000377147	NM_013937.2	123	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34363.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCGGTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF178,hmmpanther:PTHR24242,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366354	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377149	Transcript	.	.	ENSG00000204694	8176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0.01)	.	O11A1_HUMAN	OR11A1	HGNC	.	.	UPI000000DCA8	SNV	OR11A1,missense_variant,p.Arg123His,ENST00000377149,;OR11A1,missense_variant,p.Arg123His,ENST00000377148,;OR11A1,missense_variant,p.Arg123His,ENST00000377147,;OR5V1,intron_variant,,ENST00000377154,;	841	53	70	SUCCESS
CYP39A1	51302	.	GRCh37	6	46607325	46607325	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	56	355	1	ENST00000275016.2:c.394C>T	p.Leu132Phe	p.L132F	ENST00000275016	NM_001278739.1	132	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4916.1	394	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGATTGA	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264	.	.	ENSP00000275016	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000275016	Transcript	.	.	ENSG00000146233	17449	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	CP39A_HUMAN	CYP39A1	HGNC	.	.	UPI000013DA3D	SNV	CYP39A1,missense_variant,p.Leu132Phe,ENST00000275016,;CYP39A1,upstream_gene_variant,,ENST00000480804,;	598	356	311	SUCCESS
PKHD1	5314	.	GRCh37	6	51732778	51732778	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	36	136	0	ENST00000371117.3:c.7616T>C	p.Ile2539Thr	p.I2539T	ENST00000371117	NM_138694.3	2539	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS4935.1	7616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAATGTGA	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	48/67	.	.	.	.	.	.	.	.	.	48/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	deleterious(0)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Ile2539Thr,ENST00000340994,;PKHD1,missense_variant,p.Ile2539Thr,ENST00000371117,;	7892	136	114	SUCCESS
GFRAL	389400	.	GRCh37	6	55263983	55263983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	288	129	547	2	ENST00000340465.2:c.958C>A	p.Pro320Thr	p.P320T	ENST00000340465	NM_207410.2	320	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4957.1	958	RADIA|VARSCANS	.	ATTATCCAACC	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,Superfamily_domains:0042655	.	.	ENSP00000343636	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.221)	.	tolerated(0.64)	.	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,missense_variant,p.Pro320Thr,ENST00000340465,;	1044	549	417	SUCCESS
GFRAL	389400	.	GRCh37	6	55263984	55263984	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	289	128	557	1	ENST00000340465.2:c.959C>A	p.Pro320Gln	p.P320Q	ENST00000340465	NM_207410.2	320	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS4957.1	959	RADIA|VARSCANS	.	TTATCCAACCC	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,Superfamily_domains:0042655	.	.	ENSP00000343636	.	7/9	.	.	.	.	.	.	.	.	COSM3628755	7/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.499)	.	tolerated(0.46)	1	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,missense_variant,p.Pro320Gln,ENST00000340465,;	1045	558	417	SUCCESS
COL19A1	1310	.	GRCh37	6	70778319	70778319	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	180	0	ENST00000322773.4:c.1175C>T	p.Ser392Phe	p.S392F	ENST00000322773	NM_001858.4	392	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4970.1	1175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTCCCTGG	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022,Low_complexity_(Seg):seg	.	.	ENSP00000316030	.	15/51	.	.	.	.	.	.	.	.	COSM1312350	15/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious(0.05)	1	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Ser392Phe,ENST00000322773,;COL19A1,missense_variant,p.Ser14Phe,ENST00000393344,;	1277	181	105	SUCCESS
COL9A1	1297	.	GRCh37	6	70993489	70993489	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	57	105	0	ENST00000357250.6:c.731C>A	p.Pro244His	p.P244H	ENST00000357250	NM_001851.4	244	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4971.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGGGTCA	NONE	.	.	hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000349790	.	6/38	.	.	.	.	.	.	.	.	.	6/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Pro244His,ENST00000370496,;COL9A1,missense_variant,p.Pro244His,ENST00000357250,;COL9A1,upstream_gene_variant,,ENST00000370499,;COL9A1,upstream_gene_variant,,ENST00000320755,;COL9A1,upstream_gene_variant,,ENST00000489611,;	890	105	187	SUCCESS
MRAP2	112609	.	GRCh37	6	84772699	84772699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	568	339	732	2	ENST00000257776.4:c.215C>A	p.Ala72Asp	p.A72D	ENST00000257776	NM_138409.2	72	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS5001.1	215	RADIA|VARSCANS	.	AGGAGCCCCAC	NONE	.	.	Pfam_domain:PF15183	.	.	ENSP00000257776	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000257776	Transcript	.	.	ENSG00000135324	21232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MRAP2_HUMAN	MRAP2	HGNC	.	.	UPI0000074376	SNV	MRAP2,missense_variant,p.Ala72Asp,ENST00000257776,;	350	734	907	SUCCESS
GABRR2	2570	.	GRCh37	6	89967516	89967516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	78	210	0	ENST00000402938.3:c.1271G>T	p.Gly424Val	p.G424V	ENST00000402938	NM_002043.3	424	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5020.3	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCCCTTC	NONE	.	.	hmmpanther:PTHR18945:SF197,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01670,Prints_domain:PR01672	.	.	ENSP00000386029	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000402938	Transcript	.	.	ENSG00000111886	4091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	tolerated(0.06)	.	GBRR2_HUMAN	GABRR2	HGNC	B4DER2_HUMAN	.	UPI000012B0DB	SNV	GABRR2,missense_variant,p.Gly449Val,ENST00000602399,;GABRR2,missense_variant,p.Gly424Val,ENST00000402938,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602432,;	1405	210	223	SUCCESS
KCND2	3751	.	GRCh37	7	119914945	119914945	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776408046	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	52	69	0	ENST00000331113.4:c.259C>A	p.Arg87Ser	p.R87S	ENST00000331113	NM_012281.2	87	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS5776.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCGTGAC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF86,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000333496	.	1/6	.	.	.	.	.	.	.	.	rs776408046	1/6	PASS	ENST00000331113	Transcript	.	.	ENSG00000184408	6238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCND2_HUMAN	KCND2	HGNC	A4D0V9_HUMAN,Q75LS7_HUMAN	.	UPI0000073D37	SNV	KCND2,missense_variant,p.Arg87Ser,ENST00000331113,;	1224	69	119	SUCCESS
ASB15	142685	.	GRCh37	7	123270025	123270025	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	137	0	ENST00000275699.3:c.1446T>C	p.Cys482=	p.C482=	ENST00000275699	NM_080928.3	482	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS34742.1	1446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTGAGTT	NONE	.	.	.	.	.	ENSP00000397655	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000451558	Transcript	.	.	ENSG00000146809	19767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB15_HUMAN	ASB15	HGNC	C9J956_HUMAN	.	UPI000022D0FF	SNV	ASB15,synonymous_variant,p.%3D,ENST00000275699,;ASB15,synonymous_variant,p.%3D,ENST00000540573,;ASB15,synonymous_variant,p.%3D,ENST00000451215,;ASB15,synonymous_variant,p.%3D,ENST00000434204,;ASB15,synonymous_variant,p.%3D,ENST00000451558,;ASB15,downstream_gene_variant,,ENST00000447789,;	1967	137	126	SUCCESS
VWDE	221806	.	GRCh37	7	12384011	12384011	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	30	269	0	ENST00000275358.3:c.3971A>C	p.Asn1324Thr	p.N1324T	ENST00000275358	NM_001135924.1	1324	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS47544.1	3971	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGTTAGAA	NONE	.	.	SMART_domains:SM00181,Pfam_domain:PF12661,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67,PROSITE_profiles:PS50026	.	.	ENSP00000275358	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.925)	.	deleterious(0.01)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Asn1324Thr,ENST00000275358,;VWDE,3_prime_UTR_variant,,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	4160	270	181	SUCCESS
ZNF775	285971	.	GRCh37	7	150094966	150094966	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	12	0	ENST00000329630.5:c.1397G>T	p.Arg466Leu	p.R466L	ENST00000329630	NM_173680.3	466	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43678.1	1397	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGCATCC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24409,PROSITE_profiles:PS50157	.	.	ENSP00000330838	.	3/3	.	.	.	.	.	.	.	.	COSM3698257	3/3	PASS	ENST00000329630	Transcript	.	.	ENSG00000196456	28501	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	ZN775_HUMAN	ZNF775	HGNC	C9JVG2_HUMAN,C9JAM7_HUMAN	.	UPI00001BDA25	SNV	ZNF775,missense_variant,p.Arg466Leu,ENST00000329630,;ZNF775,downstream_gene_variant,,ENST00000478789,;ZNF775,downstream_gene_variant,,ENST00000490973,;ZNF775,intron_variant,,ENST00000483664,;ZNF775,intron_variant,,ENST00000486297,;ZNF775,upstream_gene_variant,,ENST00000476489,;	1504	12	34	SUCCESS
GIMAP2	26157	.	GRCh37	7	150390064	150390064	+	synonymous_variant	Silent	SNP	G	G	T	rs769304406	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	26	137	0	ENST00000223293.5:c.690G>T	p.Val230=	p.V230=	ENST00000223293	NM_015660.2	230	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5905.1	690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGGGATC	NONE	.	.	hmmpanther:PTHR10903:SF28,hmmpanther:PTHR10903	.	.	ENSP00000223293	.	3/3	.	.	.	.	.	.	.	.	rs769304406	3/3	PASS	ENST00000223293	Transcript	.	.	ENSG00000106560	21789	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GIMA2_HUMAN	GIMAP2	HGNC	.	.	UPI000006D114	SNV	GIMAP2,synonymous_variant,p.%3D,ENST00000223293,;GIMAP2,downstream_gene_variant,,ENST00000474605,;	784	137	123	SUCCESS
SNX10	29887	.	GRCh37	7	26412162	26412162	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	101	272	1	ENST00000338523.4:c.576T>A	p.Cys192Ter	p.C192*	ENST00000338523	NM_013322.2	192	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS5399.1	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGTAAAGT	NONE	.	.	.	.	.	ENSP00000343709	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000338523	Transcript	.	.	ENSG00000086300	14974	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX10_HUMAN	SNX10	HGNC	Q75MY3_HUMAN,Q75MD2_HUMAN,G5E9H5_HUMAN	.	UPI000003E7DF	SNV	SNX10,stop_gained,p.Cys218Ter,ENST00000446848,;SNX10,stop_gained,p.Cys152Ter,ENST00000409367,;SNX10,stop_gained,p.Cys192Ter,ENST00000396376,;SNX10,stop_gained,p.Cys192Ter,ENST00000338523,;SNX10,stop_gained,p.Cys108Ter,ENST00000409838,;SNX10,downstream_gene_variant,,ENST00000416246,;AC004540.4,non_coding_transcript_exon_variant,,ENST00000451264,;AC004540.4,non_coding_transcript_exon_variant,,ENST00000451368,;SNX10,non_coding_transcript_exon_variant,,ENST00000462993,;	763	273	331	SUCCESS
POU6F2	11281	.	GRCh37	7	39504010	39504010	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775692137	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	68	0	ENST00000403058.1:c.1801G>T	p.Gly601Trp	p.G601W	ENST00000403058	NM_001166018.1	601	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS34620.2	1801	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCGGGAGT	NONE	byFrequency	.	hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636	.	.	ENSP00000384004	.	11/11	.	.	.	.	.	.	.	.	rs775692137	11/11	PASS	ENST00000403058	Transcript	.	.	ENSG00000106536	21694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	PO6F2_HUMAN	POU6F2	HGNC	H0YL15_HUMAN	.	UPI0000480E81	SNV	POU6F2,missense_variant,p.Gly601Trp,ENST00000403058,;POU6F2,missense_variant,p.Gly546Trp,ENST00000559001,;POU6F2,missense_variant,p.Gly565Trp,ENST00000518318,;POU6F2,upstream_gene_variant,,ENST00000426456,;POU6F2,3_prime_UTR_variant,,ENST00000416452,;	1955	69	73	SUCCESS
GNAI1	2770	.	GRCh37	7	79764496	79764496	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	29	0	ENST00000351004.3:c.20C>T	p.Ala7Val	p.A7V	ENST00000351004	NM_002069.5	7	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5595.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGCCGAGG	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF173,Pfam_domain:PF00503,Gene3D:3.40.50.300	.	.	ENSP00000343027	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000351004	Transcript	.	.	ENSG00000127955	4384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.08)	.	GNAI1_HUMAN	GNAI1	HGNC	O43383_HUMAN,C9JPP4_HUMAN,C9JL77_HUMAN,C9J2Z2_HUMAN	.	UPI000000124A	SNV	GNAI1,missense_variant,p.Ala7Val,ENST00000351004,;GNAI1,missense_variant,p.Ala7Val,ENST00000442586,;GNAI1,upstream_gene_variant,,ENST00000457358,;GNAI1,upstream_gene_variant,,ENST00000418742,;GNAI1,non_coding_transcript_exon_variant,,ENST00000490206,;	393	29	61	SUCCESS
ZFPM2	23414	.	GRCh37	8	106331156	106331156	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs761684512	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	22	0	ENST00000407775.2:c.-14C>T		p.*5*	ENST00000407775	NM_012082.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47908.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCAGCCG	NONE	byFrequency	.	.	.	.	ENSP00000384179	.	1/8	.	.	.	.	.	.	.	.	rs761684512	1/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,5_prime_UTR_variant,,ENST00000407775,;ZFPM2,upstream_gene_variant,,ENST00000520492,;RP11-127H5.1,intron_variant,,ENST00000518180,;	237	22	78	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110457487	110457487	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	370	23	190	0	ENST00000378402.5:c.5389A>C	p.Asn1797His	p.N1797H	ENST00000378402	NM_177531.4	1797	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS47911.1	5389	MUTECT|MUSE	.	AAAACAACATC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	38/78	.	.	.	.	.	.	.	.	.	38/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	deleterious(0.04)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Asn1797His,ENST00000378402,;	5493	190	393	SUCCESS
CSMD3	114788	.	GRCh37	8	113662479	113662479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	454	40	250	0	ENST00000297405.5:c.3104G>T	p.Ser1035Ile	p.S1035I	ENST00000297405	NM_198123.1	1035	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS6315.1	3104	MUTECT|MUSE	.	CACAACTAAAT	NONE	.	.	PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	19/71	.	.	.	.	.	.	.	.	.	19/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.723)	.	deleterious(0.03)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ser1035Ile,ENST00000352409,;CSMD3,missense_variant,p.Ser931Ile,ENST00000455883,;CSMD3,missense_variant,p.Ser1035Ile,ENST00000297405,;CSMD3,missense_variant,p.Ser375Ile,ENST00000339701,;CSMD3,missense_variant,p.Ser995Ile,ENST00000343508,;	3349	250	494	SUCCESS
USP17L2	377630	.	GRCh37	8	11994739	11994739	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	135	0	ENST00000333796.3:c.1531A>G	p.Arg511Gly	p.R511G	ENST00000333796	NM_201402.2	511	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS43713.1	1531	RADIA|VARSCANS	.	GGTCCTCCCTT	NONE	.	.	.	.	.	ENSP00000333329	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333796	Transcript	.	.	ENSG00000223443	34434	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.081)	.	tolerated(0.09)	.	U17L2_HUMAN	USP17L2	HGNC	.	.	UPI0000198137	SNV	USP17L2,missense_variant,p.Arg511Gly,ENST00000333796,;FAM66D,intron_variant,,ENST00000434078,;USP17L7,upstream_gene_variant,,ENST00000530447,;USP17L7,upstream_gene_variant,,ENST00000416902,;	1848	135	36	SUCCESS
ASAP1	50807	.	GRCh37	8	131164981	131164981	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	252	49	144	0	ENST00000518721.1:c.1080+1G>A		p.X360_splice	ENST00000518721	NM_001247996.1	360		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6362.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACTGTGG	NONE	.	.	.	.	.	ENSP00000350297	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	HIGH	12/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,splice_donor_variant,,ENST00000518721,;ASAP1,splice_donor_variant,,ENST00000524124,;ASAP1,splice_donor_variant,,ENST00000357668,;ASAP1,downstream_gene_variant,,ENST00000524367,;ASAP1,splice_donor_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000524018,;	.	144	301	SUCCESS
CHRAC1	54108	.	GRCh37	8	141521569	141521569	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs747639935	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	85	11	0	ENST00000220913.5:c.-30G>T		p.*10*	ENST00000220913	NM_017444.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6379.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	CGCCGGCTGCG	NONE	byFrequency	.	.	.	.	ENSP00000220913	.	1/3	.	.	.	.	.	.	.	.	rs747639935	1/3	PASS	ENST00000220913	Transcript	.	.	ENSG00000104472	13544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHRC1_HUMAN	CHRAC1	HGNC	.	.	UPI00000437B9	SNV	CHRAC1,5_prime_UTR_variant,,ENST00000220913,;CHRAC1,5_prime_UTR_variant,,ENST00000519533,;CHRAC1,upstream_gene_variant,,ENST00000519618,;CHRAC1,upstream_gene_variant,,ENST00000518971,;CTA-204B4.2,upstream_gene_variant,,ENST00000564464,;CHRAC1,upstream_gene_variant,,ENST00000523569,;	173	11	97	SUCCESS
MROH5	389690	.	GRCh37	8	142517301	142517302	+	5_prime_UTR_variant	5'UTR	INS	-	-	GCCTGTGG	rs139263431	.	TCGA-CC-5258-01	TCGA-CC-5258-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	12	0	ENST00000430863.1:c.-60_-53dup		p.*20*	ENST00000430863	NM_207414.2			0	.	GCCTGTGG:0	.	GCCTGTGG:0	.	GCCTGTGG	.	nonsense_mediated_decay	.	.	.	INDELOCATOR|VARSCANI	.	CCTCACGCCTG	NONE	byFrequency|byCluster|by1000G	.	.	GCCTGTGG:0.0149	.	ENSP00000427945	GCCTGTGG:0	1/27	.	.	.	.	.	.	.	.	rs139263431	1/27	PASS	ENST00000523857	Transcript	.	GCCTGTGG:0.0030	ENSG00000226807	42976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	GCCTGTGG:0	.	.	.	MROH5	HGNC	E5RFU7_HUMAN	.	UPI0001E8F5FA	insertion	MROH5,5_prime_UTR_variant,,ENST00000523857,;MROH5,5_prime_UTR_variant,,ENST00000521053,;MROH5,5_prime_UTR_variant,,ENST00000430863,;	29-30	12	50	SUCCESS
TTPA	7274	.	GRCh37	8	63973866	63973866	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	256	63	165	0	ENST00000260116.4:c.782A>G	p.Asn261Ser	p.N261S	ENST00000260116	NM_000370.3	261	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6178.1	782	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAATTTGTC	NONE	.	.	hmmpanther:PTHR23324:SF52,hmmpanther:PTHR23324,Superfamily_domains:SSF52087	.	.	ENSP00000260116	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000260116	Transcript	1	.	ENSG00000137561	12404	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.18)	.	TTPA_HUMAN	TTPA	HGNC	.	.	UPI00001377AC	SNV	TTPA,missense_variant,p.Asn261Ser,ENST00000260116,;TTPA,intron_variant,,ENST00000521138,;	814	165	320	SUCCESS
TRPA1	8989	.	GRCh37	8	72948615	72948615	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	43	258	1	ENST00000262209.4:c.2463C>A	p.Pro821=	p.P821=	ENST00000262209	NM_007332.2	821	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34908.1	2463	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGGGCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF00520	.	.	ENSP00000262209	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,synonymous_variant,p.%3D,ENST00000523582,;TRPA1,synonymous_variant,p.%3D,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;TRPA1,non_coding_transcript_exon_variant,,ENST00000519720,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000522271,;	2671	259	280	SUCCESS
ATP6V0D2	245972	.	GRCh37	8	87162487	87162487	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	72	88	0	ENST00000285393.3:c.786C>A	p.Asp262Glu	p.D262E	ENST00000285393	NM_152565.1	262	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS6241.1	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACCAGAT	NONE	.	.	hmmpanther:PTHR11028:SF2,hmmpanther:PTHR11028,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,Superfamily_domains:0044678	.	.	ENSP00000285393	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000285393	Transcript	.	.	ENSG00000147614	18266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	VA0D2_HUMAN	ATP6V0D2	HGNC	E5RIR3_HUMAN,E5RHJ7_HUMAN	.	UPI0000051F69	SNV	ATP6V0D2,missense_variant,p.Asp262Glu,ENST00000285393,;CTD-3118D11.2,intron_variant,,ENST00000522679,;CTD-3118D11.2,downstream_gene_variant,,ENST00000524253,;	928	88	86	SUCCESS
CCDC180	100499483	.	GRCh37	9	100057188	100057188	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	55	122	0	ENST00000375202.2:c.-106C>G		p.*36*	ENST00000375202				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35077.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTCAGCTT	NONE	.	.	.	.	.	ENSP00000364348	.	14/51	.	.	.	.	.	.	.	.	.	14/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,synonymous_variant,p.%3D,ENST00000357054,;CCDC180,synonymous_variant,p.%3D,ENST00000375205,;CCDC180,synonymous_variant,p.%3D,ENST00000395220,;CCDC180,5_prime_UTR_variant,,ENST00000375202,;CCDC180,5_prime_UTR_variant,,ENST00000411667,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;RP11-23J9.5,non_coding_transcript_exon_variant,,ENST00000375204,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;RP11-23J9.4,intron_variant,,ENST00000532526,;RP11-23J9.5,downstream_gene_variant,,ENST00000527128,;RP11-23J9.7,non_coding_transcript_exon_variant,,ENST00000531758,;	1247	122	101	SUCCESS
OLFML2A	169611	.	GRCh37	9	127563918	127563918	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752668410	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	54	82	1	ENST00000373580.3:c.895C>A	p.Gln299Lys	p.Q299K	ENST00000373580	NM_182487.2	299	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS6857.2	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGCAGGAG	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29	.	.	ENSP00000362682	.	5/8	.	.	.	.	.	.	.	.	rs752668410	5/8	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.89)	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,missense_variant,p.Gln85Lys,ENST00000288815,;OLFML2A,missense_variant,p.Gln263Lys,ENST00000331715,;OLFML2A,missense_variant,p.Gln299Lys,ENST00000373580,;	895	83	106	SUCCESS
CERCAM	51148	.	GRCh37	9	131183275	131183275	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1381559359	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	11	0	ENST00000372838.4:c.119G>T	p.Arg40Leu	p.R40L	ENST00000372838	NM_016174.4	40	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS6901.2	119	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GGCCCGCAATG	NONE	.	.	Superfamily_domains:SSF53448,Pfam_domain:PF13704,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF9	.	.	ENSP00000361929	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000372838	Transcript	.	.	ENSG00000167123	23723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GT253_HUMAN	CERCAM	HGNC	B7ZBT0_HUMAN,B7ZBS9_HUMAN,B7ZBS8_HUMAN	.	UPI000046FF85	SNV	CERCAM,missense_variant,p.Arg40Leu,ENST00000372838,;CERCAM,5_prime_UTR_variant,,ENST00000372842,;CERCAM,5_prime_UTR_variant,,ENST00000411852,;CERCAM,intron_variant,,ENST00000447915,;CERCAM,intron_variant,,ENST00000420512,;CERCAM,intron_variant,,ENST00000420034,;CERCAM,non_coding_transcript_exon_variant,,ENST00000493788,;CERCAM,upstream_gene_variant,,ENST00000487001,;CERCAM,upstream_gene_variant,,ENST00000483893,;CERCAM,upstream_gene_variant,,ENST00000463535,;CERCAM,upstream_gene_variant,,ENST00000483737,;	517	11	17	SUCCESS
RXRA	6256	.	GRCh37	9	137320977	137320977	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs780170980	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	115	127	0	ENST00000481739.1:c.934T>G	p.Ser312Ala	p.S312A	ENST00000481739	NM_002957.4	312	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS35172.1	934	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTCCTTC	NONE	byFrequency	.	Superfamily_domains:SSF48508,SMART_domains:SM00430,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	7/10	.	.	.	.	.	.	.	.	rs780170980	7/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.405)	.	tolerated(0.45)	.	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Ser312Ala,ENST00000481739,;RXRA,missense_variant,p.Ser215Ala,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;	986	127	206	SUCCESS
RXRA	6256	.	GRCh37	9	137320981	137320981	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749277866	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	117	129	0	ENST00000481739.1:c.938T>C	p.Phe313Ser	p.F313S	ENST00000481739	NM_002957.4	313	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS35172.1	938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTCTCCC	NONE	.	.	Superfamily_domains:SSF48508,SMART_domains:SM00430,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	7/10	.	.	.	.	.	.	.	.	rs749277866	7/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Phe313Ser,ENST00000481739,;RXRA,missense_variant,p.Phe216Ser,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;	990	129	212	SUCCESS
OLFM1	10439	.	GRCh37	9	138011770	138011770	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1130517	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	29	32	0	ENST00000371793.3:c.1204G>A	p.Ala402Thr	p.A402T	ENST00000371793	NM_001282611.1	402	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6986.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCCGGG	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF34,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:SSF50969	.	.	ENSP00000252854	.	6/6	.	.	.	.	.	.	.	.	rs1130517	6/6	PASS	ENST00000252854	Transcript	.	.	ENSG00000130558	17187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	deleterious(0.01)	.	NOE1_HUMAN	OLFM1	HGNC	Q6IMJ8_HUMAN,Q96BL8_HUMAN,F5H810_HUMAN,F5GZQ2_HUMAN,B3KR22_HUMAN	.	UPI000013CD8C	SNV	OLFM1,missense_variant,p.Ala375Thr,ENST00000371796,;OLFM1,missense_variant,p.Ala402Thr,ENST00000371793,;OLFM1,missense_variant,p.Ala384Thr,ENST00000252854,;OLFM1,3_prime_UTR_variant,,ENST00000545657,;OLFM1,downstream_gene_variant,,ENST00000539877,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;	1337	32	49	SUCCESS
DDX58	23586	.	GRCh37	9	32457157	32457157	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	195	1	ENST00000379883.2:c.2741A>G	p.Glu914Gly	p.E914G	ENST00000379883	NM_014314.3	914	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS6526.1	2741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTCAAAA	NONE	.	.	hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16,Pfam_domain:PF11648	.	.	ENSP00000369213	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000379883	Transcript	.	.	ENSG00000107201	19102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.19)	.	DDX58_HUMAN	DDX58	HGNC	A2A376_HUMAN	.	UPI000013C841	SNV	DDX58,missense_variant,p.Glu843Gly,ENST00000542096,;DDX58,missense_variant,p.Glu914Gly,ENST00000379883,;DDX58,missense_variant,p.Glu711Gly,ENST00000379868,;DDX58,missense_variant,p.Glu869Gly,ENST00000379882,;ACO1,downstream_gene_variant,,ENST00000309951,;	2899	196	100	SUCCESS
DDX58	23586	.	GRCh37	9	32457172	32457178	+	frameshift_variant	Frame_Shift_Del	DEL	TTCCACT	TTCCACT	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	TTCCACT	TTCCACT	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	178	0	ENST00000379883.2:c.2720_2726del	p.Lys907ArgfsTer29	p.K907Rfs*29	ENST00000379883	NM_014314.3	907	aAGTGGAAg/ag	0	.	.	.	.	.	-	KWK/X	protein_coding	YES	CCDS6526.1	2720-2726	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGTCCTTCCACTTCGAG	NONE	.	.	hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16,Pfam_domain:PF11648	.	.	ENSP00000369213	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000379883	Transcript	.	.	ENSG00000107201	19102	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DDX58_HUMAN	DDX58	HGNC	A2A376_HUMAN	.	UPI000013C841	deletion	DDX58,frameshift_variant,p.Lys836ArgfsTer29,ENST00000542096,;DDX58,frameshift_variant,p.Lys907ArgfsTer29,ENST00000379883,;DDX58,frameshift_variant,p.Lys704ArgfsTer29,ENST00000379868,;DDX58,frameshift_variant,p.Lys862ArgfsTer29,ENST00000379882,;ACO1,downstream_gene_variant,,ENST00000309951,;	2878-2884	178	100	SUCCESS
PLXNB3	5365	.	GRCh37	X	153031765	153031765	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	89	135	0	ENST00000361971.5:c.46-563C>A		p.*16*	ENST00000361971	NM_005393.2	34		0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS55536.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCCCTGG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33	.	.	ENSP00000442736	.	3/37	.	.	.	.	.	.	.	.	.	3/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.02)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Pro34Thr,ENST00000538966,;PLXNB3,intron_variant,,ENST00000538543,;PLXNB3,intron_variant,,ENST00000538776,;PLXNB3,intron_variant,,ENST00000538282,;PLXNB3,intron_variant,,ENST00000361971,;U52111.14,intron_variant,,ENST00000416854,;U52111.14,intron_variant,,ENST00000434284,;	371	136	152	SUCCESS
PAGE2	203569	.	GRCh37	X	55117891	55117891	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	94	282	0	ENST00000374968.4:c.319+1G>A		p.X107_splice	ENST00000374968	NM_207339.2	107		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14367.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGTTTGT	NONE	.	.	.	.	.	ENSP00000364107	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374968	Transcript	.	.	ENSG00000234068	31804	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAGE2_HUMAN	PAGE2	HGNC	.	.	UPI0000160CEC	SNV	PAGE2,splice_donor_variant,,ENST00000374965,;PAGE2,splice_donor_variant,,ENST00000374968,;PAGE2,downstream_gene_variant,,ENST00000449097,;	.	282	284	SUCCESS
NAP1L3	4675	.	GRCh37	X	92927476	92927476	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	153	127	0	ENST00000373079.3:c.828A>T	p.Ala276=	p.A276=	ENST00000373079	NM_004538.5	276	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14465.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTGCAGC	NONE	.	.	Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38	.	.	ENSP00000362171	.	1/1	.	.	.	.	.	.	.	.	COSM758097	1/1	PASS	ENST00000373079	Transcript	.	.	ENSG00000186310	7639	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NP1L3_HUMAN	NAP1L3	HGNC	.	.	UPI0000167B31	SNV	NAP1L3,synonymous_variant,p.%3D,ENST00000475430,;NAP1L3,synonymous_variant,p.%3D,ENST00000373079,;FAM133A,upstream_gene_variant,,ENST00000355813,;FAM133A,upstream_gene_variant,,ENST00000538690,;FAM133A,upstream_gene_variant,,ENST00000332647,;FAM133A,upstream_gene_variant,,ENST00000322139,;	1092	127	213	SUCCESS
SLC18A2	6571	.	GRCh37	10	119001223	119001223	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1276677749	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	33	81	0	ENST00000298472.5:c.19G>C	p.Ala7Pro	p.A7P	ENST00000298472	NM_003054.4	7	Gcg/Ccg	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS7599.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCGCTG	NONE	.	.	hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF63	.	.	ENSP00000298472	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000298472	Transcript	1	.	ENSG00000165646	10935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	deleterious(0.04)	.	VMAT2_HUMAN	SLC18A2	HGNC	.	.	UPI00001389DE	SNV	SLC18A2,missense_variant,p.Ala7Pro,ENST00000298472,;RP11-501J20.5,non_coding_transcript_exon_variant,,ENST00000425264,;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	162	81	56	SUCCESS
DOCK1	1793	.	GRCh37	10	128798514	128798514	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	114	0	ENST00000280333.6:c.928A>T	p.Arg310Trp	p.R310W	ENST00000280333	NM_001380.3	310	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	.	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGAGGGAC	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79	.	.	ENSP00000280333	.	10/52	.	.	.	.	.	.	.	.	.	10/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0.01)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Arg310Trp,ENST00000280333,;RP11-223P11.3,downstream_gene_variant,,ENST00000601826,;RP11-223P11.3,downstream_gene_variant,,ENST00000595456,;RP11-223P11.3,downstream_gene_variant,,ENST00000594559,;RP11-223P11.3,downstream_gene_variant,,ENST00000594614,;RP11-223P11.3,downstream_gene_variant,,ENST00000601242,;	1037	114	112	SUCCESS
KNDC1	85442	.	GRCh37	10	135009191	135009191	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs541722509	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	60	306	0	ENST00000304613.3:c.1600G>A	p.Val534Ile	p.V534I	ENST00000304613		534	Gtt/Att	0	.	A:0.0008	.	A:0	.	A	V/I	protein_coding	YES	CCDS7674.1	1600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGTTCTG	NONE	by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00750,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS51377	A:0	.	ENSP00000304437	A:0	10/30	.	.	.	.	.	.	.	.	rs541722509	10/30	PASS	ENST00000304613	Transcript	.	A:0.0002	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	A:0	tolerated(0.23)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Val469Ile,ENST00000368571,;KNDC1,missense_variant,p.Val534Ile,ENST00000304613,;KNDC1,missense_variant,p.Val534Ile,ENST00000368572,;	1621	306	232	SUCCESS
PLXDC2	84898	.	GRCh37	10	20453406	20453406	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	36	85	0	ENST00000377252.4:c.794del	p.Leu265TrpfsTer5	p.L265Wfs*5	ENST00000377252	NM_032812.7	265	Ttg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS7132.1	793	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGTCTTGGTC	NONE	.	.	hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055	.	.	ENSP00000366460	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000377252	Transcript	.	.	ENSG00000120594	21013	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PXDC2_HUMAN	PLXDC2	HGNC	.	.	UPI0000048F2C	deletion	PLXDC2,frameshift_variant,p.Leu216TrpfsTer5,ENST00000377242,;PLXDC2,frameshift_variant,p.Leu265TrpfsTer5,ENST00000377252,;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	1634	85	133	SUCCESS
ARMC3	219681	.	GRCh37	10	23244747	23244747	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1043241137	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	39	0	ENST00000298032.5:c.178A>G	p.Lys60Glu	p.K60E	ENST00000298032	NM_173081.3	60	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7142.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATAAAACA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	.	.	ENSP00000298032	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000298032	Transcript	.	.	ENSG00000165309	30964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,missense_variant,p.Lys60Glu,ENST00000409983,;ARMC3,missense_variant,p.Lys60Glu,ENST00000409049,;ARMC3,missense_variant,p.Lys60Glu,ENST00000298032,;ARMC3,5_prime_UTR_variant,,ENST00000376528,;ARMC3,5_prime_UTR_variant,,ENST00000447081,;ARMC3,non_coding_transcript_exon_variant,,ENST00000464017,;ARMC3,non_coding_transcript_exon_variant,,ENST00000496741,;ARMC3,non_coding_transcript_exon_variant,,ENST00000468003,;ARMC3,non_coding_transcript_exon_variant,,ENST00000483596,;ARMC3,intron_variant,,ENST00000484642,;	262	39	59	SUCCESS
ANKRD26	22852	.	GRCh37	10	27324233	27324233	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	65	120	0	ENST00000376087.4:c.3146A>G	p.Asn1049Ser	p.N1049S	ENST00000376087	NM_014915.2	1049	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS41499.1	3146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATTCATT	NONE	.	.	Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.06)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Asn1049Ser,ENST00000376087,;ANKRD26,missense_variant,p.Asn606Ser,ENST00000376070,;ANKRD26,missense_variant,p.Asn1065Ser,ENST00000436985,;ANKRD26,downstream_gene_variant,,ENST00000490015,;	3312	120	148	SUCCESS
PARD3	56288	.	GRCh37	10	35103924	35103924	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	18	0	ENST00000374789.3:c.-1del		p.*1*	ENST00000374789	NM_019619.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7178.1	.	INDELOCATOR|VARSCANI	.	TTTCATGCCGCC	NONE	.	.	.	.	.	ENSP00000363921	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	deletion	PARD3,5_prime_UTR_variant,,ENST00000374788,;PARD3,5_prime_UTR_variant,,ENST00000545260,;PARD3,5_prime_UTR_variant,,ENST00000545693,;PARD3,5_prime_UTR_variant,,ENST00000340077,;PARD3,5_prime_UTR_variant,,ENST00000374790,;PARD3,5_prime_UTR_variant,,ENST00000374776,;PARD3,5_prime_UTR_variant,,ENST00000374773,;PARD3,5_prime_UTR_variant,,ENST00000374794,;PARD3,5_prime_UTR_variant,,ENST00000350537,;PARD3,5_prime_UTR_variant,,ENST00000374789,;PARD3,5_prime_UTR_variant,,ENST00000346874,;PARD3-AS1,upstream_gene_variant,,ENST00000446211,;	326	18	18	SUCCESS
PARD3	56288	.	GRCh37	10	35103925	35103925	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	17	0	ENST00000374789.3:c.-2G>T		p.*1*	ENST00000374789	NM_019619.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7178.1	.	SOMATICSNIPER|VARSCANS	.	TCATGCCGCCG	NONE	.	.	.	.	.	ENSP00000363921	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,5_prime_UTR_variant,,ENST00000374788,;PARD3,5_prime_UTR_variant,,ENST00000545260,;PARD3,5_prime_UTR_variant,,ENST00000545693,;PARD3,5_prime_UTR_variant,,ENST00000340077,;PARD3,5_prime_UTR_variant,,ENST00000374790,;PARD3,5_prime_UTR_variant,,ENST00000374776,;PARD3,5_prime_UTR_variant,,ENST00000374773,;PARD3,5_prime_UTR_variant,,ENST00000374794,;PARD3,5_prime_UTR_variant,,ENST00000350537,;PARD3,5_prime_UTR_variant,,ENST00000374789,;PARD3,5_prime_UTR_variant,,ENST00000346874,;PARD3-AS1,upstream_gene_variant,,ENST00000446211,;	325	17	17	SUCCESS
CREM	1390	.	GRCh37	10	35456556	35456556	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	11	0	ENST00000345491.3:c.169-11261G>C		p.*57*	ENST00000345491	NM_181571.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7180.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TATTAGGGTTT	NONE	.	.	.	.	.	ENSP00000265372	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000345491	Transcript	.	.	ENSG00000095794	2352	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CREM_HUMAN	CREM	HGNC	E9PBM5_HUMAN,E9PB41_HUMAN,C9J5A7_HUMAN,C9J2J0_HUMAN	.	UPI00001BDF4F	SNV	CREM,5_prime_UTR_variant,,ENST00000361599,;CREM,intron_variant,,ENST00000487132,;CREM,intron_variant,,ENST00000429130,;CREM,intron_variant,,ENST00000439705,;CREM,intron_variant,,ENST00000474362,;CREM,intron_variant,,ENST00000374726,;CREM,intron_variant,,ENST00000479070,;CREM,intron_variant,,ENST00000374728,;CREM,intron_variant,,ENST00000345491,;CREM,intron_variant,,ENST00000374721,;CREM,intron_variant,,ENST00000337656,;CREM,intron_variant,,ENST00000333809,;CREM,intron_variant,,ENST00000460270,;CREM,intron_variant,,ENST00000427847,;CREM,intron_variant,,ENST00000374734,;CREM,intron_variant,,ENST00000348787,;CREM,intron_variant,,ENST00000354759,;CREM,intron_variant,,ENST00000395895,;CREM,intron_variant,,ENST00000489321,;CREM,upstream_gene_variant,,ENST00000484283,;CREM,upstream_gene_variant,,ENST00000395887,;CREM,non_coding_transcript_exon_variant,,ENST00000497686,;CREM,intron_variant,,ENST00000461968,;CREM,intron_variant,,ENST00000496019,;CREM,intron_variant,,ENST00000489388,;CREM,intron_variant,,ENST00000466251,;CREM,intron_variant,,ENST00000482633,;CREM,intron_variant,,ENST00000464475,;CREM,intron_variant,,ENST00000495960,;CREM,intron_variant,,ENST00000490460,;	.	11	26	SUCCESS
WDFY4	57705	.	GRCh37	10	49917873	49917873	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	61	0	ENST00000325239.5:c.96A>T	p.Pro32=	p.P32=	ENST00000325239	NM_020945.1	32	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS44385.1	96	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCACATGG	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	1/61	.	.	.	.	.	.	.	.	.	1/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000413659,;WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000360890,;	123	62	59	SUCCESS
NET1	10276	.	GRCh37	10	5494450	5494450	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	7	96	0	ENST00000355029.4:c.493A>G	p.Lys165Glu	p.K165E	ENST00000355029	NM_001047160.2	165	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41483.1	493	MUTECT|MUSE	.	CCATGAAGGAG	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF3,Gene3D:1.20.900.10,Superfamily_domains:SSF48065	.	.	ENSP00000347134	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000355029	Transcript	.	.	ENSG00000173848	14592	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	tolerated(0.3)	.	ARHG8_HUMAN	NET1	HGNC	Q5SQI5_HUMAN,B4E1Y1_HUMAN	.	UPI00001A9465	SNV	NET1,missense_variant,p.Lys165Glu,ENST00000355029,;NET1,missense_variant,p.Lys111Glu,ENST00000380359,;NET1,5_prime_UTR_variant,,ENST00000542715,;NET1,intron_variant,,ENST00000449083,;NET1,non_coding_transcript_exon_variant,,ENST00000465087,;NET1,non_coding_transcript_exon_variant,,ENST00000486354,;NET1,upstream_gene_variant,,ENST00000484741,;	635	96	131	SUCCESS
PCDH15	65217	.	GRCh37	10	55996688	55996688	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	36	115	0	ENST00000320301.6:c.880G>T	p.Glu294Ter	p.E294*	ENST00000320301	NM_033056.3	294	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS44404.1	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTCTTCCT	NONE	.	.	Superfamily_domains:SSF49313,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	9/34	.	.	.	.	.	.	.	.	.	9/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,stop_gained,p.Glu294Ter,ENST00000437009,;PCDH15,stop_gained,p.Glu272Ter,ENST00000395433,;PCDH15,stop_gained,p.Glu294Ter,ENST00000395445,;PCDH15,stop_gained,p.Glu294Ter,ENST00000320301,;PCDH15,stop_gained,p.Glu257Ter,ENST00000395432,;PCDH15,stop_gained,p.Glu294Ter,ENST00000373955,;PCDH15,stop_gained,p.Glu272Ter,ENST00000373957,;PCDH15,stop_gained,p.Glu294Ter,ENST00000395440,;PCDH15,stop_gained,p.Glu294Ter,ENST00000361849,;PCDH15,stop_gained,p.Glu294Ter,ENST00000395438,;PCDH15,stop_gained,p.Glu294Ter,ENST00000395446,;PCDH15,stop_gained,p.Glu294Ter,ENST00000395442,;PCDH15,stop_gained,p.Glu299Ter,ENST00000414778,;PCDH15,stop_gained,p.Glu294Ter,ENST00000373965,;PCDH15,stop_gained,p.Glu294Ter,ENST00000395430,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,stop_gained,p.Glu294Ter,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	1275	115	138	SUCCESS
SYNPO2L	79933	.	GRCh37	10	75414002	75414002	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs543087941	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	11	153	0	ENST00000394810.2:c.142C>T	p.Arg48Ter	p.R48*	ENST00000394810	NM_001114133.1	48	Cga/Tga	0	.	C:0	.	C:0	.	A	R/*	protein_coding	YES	CCDS44438.1	142	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGGAGTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24217:SF10,hmmpanther:PTHR24217,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	C:0	.	ENSP00000378289	C:0	2/4	.	.	.	.	.	.	.	.	rs543087941	2/4	PASS	ENST00000394810	Transcript	.	C:0.0002	ENSG00000166317	23532	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0.001	.	.	SYP2L_HUMAN	SYNPO2L	HGNC	U3KQD0_HUMAN	.	UPI000042704D	SNV	SYNPO2L,stop_gained,p.Arg48Ter,ENST00000394810,;SYNPO2L,5_prime_UTR_variant,,ENST00000606523,;SYNPO2L,upstream_gene_variant,,ENST00000372873,;RP11-464F9.21,non_coding_transcript_exon_variant,,ENST00000607450,;RP11-464F9.21,non_coding_transcript_exon_variant,,ENST00000606726,;	292	153	126	SUCCESS
NCAM1	4684	.	GRCh37	11	113078628	113078628	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782790715	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	70	0	ENST00000316851.7:c.790A>G	p.Ile264Val	p.I264V	ENST00000316851	NM_181351.4	264	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCATCAAA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,PROSITE_profiles:PS50835	.	.	ENSP00000474028	.	7/19	.	.	.	.	.	.	.	.	rs782790715	7/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.413)	.	tolerated(0.23)	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,missense_variant,p.Ile319Val,ENST00000534015,;NCAM1,missense_variant,p.Ile156Val,ENST00000533760,;NCAM1,missense_variant,p.Ile333Val,ENST00000524665,;NCAM1,missense_variant,p.Ile273Val,ENST00000401611,;NCAM1,missense_variant,p.Ile264Val,ENST00000316851,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529420,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,intron_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,downstream_gene_variant,,ENST00000529356,;NCAM1,downstream_gene_variant,,ENST00000525973,;	997	70	87	SUCCESS
DSCAML1	57453	.	GRCh37	11	117301488	117301488	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780074864	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	8	125	0	ENST00000321322.6:c.5816C>T	p.Ala1939Val	p.A1939V	ENST00000321322	NM_020693.2	1939	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8384.1	5816	MUTECT|MUSE	.	GGTCCGCATCC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171	.	.	ENSP00000315465	.	32/33	.	.	.	.	.	.	.	.	rs780074864	32/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(0.34)	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Ala1669Val,ENST00000527706,;DSCAML1,missense_variant,p.Ala1939Val,ENST00000321322,;	5818	125	134	SUCCESS
OR9G1	390174	.	GRCh37	11	56468094	56468094	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	45	181	0	ENST00000312153.1:c.231C>A	p.Thr77=	p.T77=	ENST00000312153	NM_001005213.1	77	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31536.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACCCCAAA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,synonymous_variant,p.%3D,ENST00000312153,;	231	181	203	SUCCESS
MYRF	745	.	GRCh37	11	61547380	61547380	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	117	265	0	ENST00000278836.5:c.2314C>G	p.Leu772Val	p.L772V	ENST00000278836	NM_001127392.1	772	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS44622.1	2314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCTGGTG	NONE	.	.	hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16	.	.	ENSP00000278836	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000278836	Transcript	.	.	ENSG00000124920	1181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	MRF_HUMAN	MYRF	HGNC	.	.	UPI0000D45F7B	SNV	MYRF,missense_variant,p.Leu772Val,ENST00000278836,;MYRF,missense_variant,p.Leu163Val,ENST00000389602,;MYRF,missense_variant,p.Leu763Val,ENST00000265460,;MYRF,missense_variant,p.Leu418Val,ENST00000327797,;TMEM258,intron_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000536352,;MYRF,non_coding_transcript_exon_variant,,ENST00000537318,;MYRF,upstream_gene_variant,,ENST00000539361,;MYRF,upstream_gene_variant,,ENST00000546247,;	2410	265	245	SUCCESS
AHNAK	79026	.	GRCh37	11	62292811	62292811	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	63	152	0	ENST00000378024.4:c.9078A>T	p.Lys3026Asn	p.K3026N	ENST00000378024	NM_001620.2	3026	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS31584.1	9078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATTTTCAC	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Lys3026Asn,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	9353	152	152	SUCCESS
SPTBN2	6712	.	GRCh37	11	66463896	66463896	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767535278	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	42	0	ENST00000309996.2:c.4130G>A	p.Arg1377His	p.R1377H	ENST00000309996	NM_006946.2	1377	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8150.1	4130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCGGGCC	NONE	.	.	Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	21/38	.	.	.	.	.	.	.	.	rs767535278,COSM930887	21/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.703)	.	deleterious(0.01)	0,1	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Arg1377His,ENST00000533211,;SPTBN2,missense_variant,p.Arg1377His,ENST00000309996,;SPTBN2,missense_variant,p.Arg1377His,ENST00000529997,;SPTBN2,non_coding_transcript_exon_variant,,ENST00000530665,;	4462	42	61	SUCCESS
TMEM126B	55863	.	GRCh37	11	85346870	85346870	+	intron_variant	Intron	SNP	T	T	C	rs184117003	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	26	0	ENST00000358867.6:c.509+48T>C		p.*170*	ENST00000358867	NM_018480.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8267.2	.	SOMATICSNIPER|VARSCANS	.	CTTTTTTTTTT	NONE	by1000G	.	.	.	.	ENSP00000351737	.	.	.	.	.	.	.	.	.	.	rs184117003	.	PASS	ENST00000358867	Transcript	.	.	ENSG00000171204	30883	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T126B_HUMAN	TMEM126B	HGNC	.	.	UPI00003D5F21	SNV	TMEM126B,3_prime_UTR_variant,,ENST00000534341,;TMEM126B,intron_variant,,ENST00000393375,;TMEM126B,intron_variant,,ENST00000531274,;TMEM126B,intron_variant,,ENST00000358867,;TMEM126B,intron_variant,,ENST00000529197,;TMEM126B,intron_variant,,ENST00000526822,;TMEM126B,intron_variant,,ENST00000530783,;TMEM126B,intron_variant,,ENST00000531477,;TMEM126B,downstream_gene_variant,,ENST00000530901,;TMEM126B,downstream_gene_variant,,ENST00000531718,;TMEM126B,downstream_gene_variant,,ENST00000528361,;	.	26	44	SUCCESS
DENND5A	23258	.	GRCh37	11	9192221	9192221	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	14	173	1	ENST00000328194.3:c.2010C>T	p.Phe670=	p.F670=	ENST00000328194	NM_015213.3	670	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS31423.1	2010	MUTECT|MUSE	.	TTAGGGAAGAA	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45	.	.	ENSP00000328524	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000328194	Transcript	.	.	ENSG00000184014	19344	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5A_HUMAN	DENND5A	HGNC	B3KWN5_HUMAN	.	UPI00001C1F29	SNV	DENND5A,synonymous_variant,p.%3D,ENST00000328194,;DENND5A,synonymous_variant,p.%3D,ENST00000530044,;DENND5A,synonymous_variant,p.%3D,ENST00000527700,;DENND5A,downstream_gene_variant,,ENST00000526523,;DENND5A,synonymous_variant,p.%3D,ENST00000526707,;DENND5A,3_prime_UTR_variant,,ENST00000527896,;	2331	174	215	SUCCESS
ANO4	121601	.	GRCh37	12	101381353	101381353	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	81	0	ENST00000392977.3:c.639A>T	p.Leu213Phe	p.L213F	ENST00000392977	NM_001286615.1	213	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31884.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTACCTAA	BUFFER|p.R175W|c.523C>T|3	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.22)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Leu213Phe,ENST00000392977,;ANO4,missense_variant,p.Leu178Phe,ENST00000392979,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,3_prime_UTR_variant,,ENST00000538618,;ANO4,non_coding_transcript_exon_variant,,ENST00000549234,;ANO4,3_prime_UTR_variant,,ENST00000549155,;	895	81	77	SUCCESS
STAB2	55576	.	GRCh37	12	104149204	104149204	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	80	136	0	ENST00000388887.2:c.6839A>G	p.Asn2280Ser	p.N2280S	ENST00000388887	NM_017564.9	2280	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31888.1	6839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAACAAGA	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000373539	.	62/69	.	.	.	.	.	.	.	.	.	62/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious(0.02)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Asn2280Ser,ENST00000388887,;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,non_coding_transcript_exon_variant,,ENST00000548073,;STAB2,upstream_gene_variant,,ENST00000548579,;	7043	136	145	SUCCESS
HPD	3242	.	GRCh37	12	122287654	122287654	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748745589	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	32	123	0	ENST00000289004.4:c.457A>G	p.Ile153Val	p.I153V	ENST00000289004	NM_002150.2	153	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9224.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGATGTAGT	NONE	.	.	hmmpanther:PTHR11959:SF4,hmmpanther:PTHR11959,Gene3D:3.10.180.10,TIGRFAM_domain:TIGR01263,PIRSF_domain:PIRSF009283,Superfamily_domains:SSF54593	.	.	ENSP00000289004	.	8/14	.	.	.	.	.	.	.	.	rs748745589	8/14	PASS	ENST00000289004	Transcript	.	.	ENSG00000158104	5147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.02)	.	.	HPD	HGNC	.	.	UPI0000366920	SNV	HPD,missense_variant,p.Ile153Val,ENST00000289004,;HPD,missense_variant,p.Ile114Val,ENST00000543163,;HPD,non_coding_transcript_exon_variant,,ENST00000543869,;HPD,non_coding_transcript_exon_variant,,ENST00000542159,;	493	123	148	SUCCESS
UBC	7316	.	GRCh37	12	125398140	125398140	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	240	8	233	0	ENST00000339647.5:c.178A>C	p.Asn60His	p.N60H	ENST00000339647	NM_021009.5	60	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS9260.1	178	MUTECT|MUSE	.	GATGTTGTAGT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF94,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236,Prints_domain:PR00348	.	.	ENSP00000441543	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000536769	Transcript	.	.	ENSG00000150991	12468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.083)	.	deleterious(0)	.	UBC_HUMAN	UBC	HGNC	Q9UFQ0_HUMAN,Q96C32_HUMAN,Q5PY61_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,J3QS39_HUMAN,J3QKN0_HUMAN,F5H747_HUMAN,F5H6Q2_HUMAN,F5H388_HUMAN,F5H2Z3_HUMAN,F5H265_HUMAN,F5H041_HUMAN,F5GZ39_HUMAN,F5GYU3_HUMAN,F5GXK7_HUMAN,A8CGI2_HUMAN	.	UPI000013DC28	SNV	UBC,missense_variant,p.Asn60His,ENST00000546271,;UBC,missense_variant,p.Asn60His,ENST00000542416,;UBC,missense_variant,p.Asn60His,ENST00000540700,;UBC,missense_variant,p.Asn60His,ENST00000546120,;UBC,missense_variant,p.Asn60His,ENST00000536769,;UBC,missense_variant,p.Asn60His,ENST00000538617,;UBC,missense_variant,p.Asn60His,ENST00000541645,;UBC,missense_variant,p.Asn60His,ENST00000339647,;UBC,missense_variant,p.Asn60His,ENST00000535131,;UBC,missense_variant,p.Asn60His,ENST00000541272,;UBC,missense_variant,p.Asn60His,ENST00000535859,;UBC,missense_variant,p.Asn60His,ENST00000540351,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,non_coding_transcript_exon_variant,,ENST00000544481,;UBC,non_coding_transcript_exon_variant,,ENST00000536661,;	1755	234	248	SUCCESS
DCD	117159	.	GRCh37	12	55038732	55038732	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	10	0	ENST00000293371.6:c.290-192G>T		p.*97*	ENST00000293371	NM_053283.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8884.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTTGGC	NONE	.	.	.	.	.	ENSP00000293371	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293371	Transcript	.	.	ENSG00000161634	14669	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCD_HUMAN	DCD	HGNC	.	.	UPI0000001723	SNV	DCD,splice_acceptor_variant,,ENST00000456047,;DCD,intron_variant,,ENST00000293371,;DCD,intron_variant,,ENST00000546807,;	.	10	27	SUCCESS
STAT6	6778	.	GRCh37	12	57493655	57493655	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766506451	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	39	168	0	ENST00000300134.3:c.1639G>A	p.Val547Ile	p.V547I	ENST00000300134	NM_001178078.1	547	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8931.1	1639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAACGTACT	NONE	byFrequency	.	PROSITE_profiles:PS50001,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF45,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000300134	.	15/22	.	.	.	.	.	.	.	.	rs766506451	15/22	PASS	ENST00000300134	Transcript	.	.	ENSG00000166888	11368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	STAT6_HUMAN	STAT6	HGNC	Q6LCD8_HUMAN,Q5FBW6_HUMAN,G3V5K5_HUMAN,G3V568_HUMAN,G3V3E9_HUMAN,G3V370_HUMAN,G3V2X7_HUMAN,G3V2M3_HUMAN,G3V2L2_HUMAN,G3V2H4_HUMAN	.	UPI00000473FE	SNV	STAT6,missense_variant,p.Val113Ile,ENST00000555375,;STAT6,missense_variant,p.Val547Ile,ENST00000454075,;STAT6,missense_variant,p.Val266Ile,ENST00000553533,;STAT6,missense_variant,p.Val437Ile,ENST00000538913,;STAT6,missense_variant,p.Val437Ile,ENST00000537215,;STAT6,missense_variant,p.Val547Ile,ENST00000300134,;STAT6,missense_variant,p.Val547Ile,ENST00000543873,;STAT6,missense_variant,p.Val547Ile,ENST00000556155,;NAB2,downstream_gene_variant,,ENST00000357680,;NAB2,downstream_gene_variant,,ENST00000300131,;NAB2,downstream_gene_variant,,ENST00000342556,;STAT6,upstream_gene_variant,,ENST00000555318,;STAT6,3_prime_UTR_variant,,ENST00000554764,;STAT6,non_coding_transcript_exon_variant,,ENST00000555222,;STAT6,downstream_gene_variant,,ENST00000557781,;STAT6,downstream_gene_variant,,ENST00000555641,;STAT6,upstream_gene_variant,,ENST00000554202,;STAT6,upstream_gene_variant,,ENST00000557563,;	1965	168	155	SUCCESS
ARHGEF25	115557	.	GRCh37	12	58008160	58008160	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	10	129	0	ENST00000286494.4:c.703C>T	p.Leu235=	p.L235=	ENST00000286494	NM_182947.3	235	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44931.1	820	MUTECT|MUSE	.	ATTGGCTGGCT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF117,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000335560	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000333972	Transcript	.	.	ENSG00000240771	30275	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHGP_HUMAN	ARHGEF25	HGNC	.	.	UPI000173A6BB	SNV	ARHGEF25,synonymous_variant,p.%3D,ENST00000286494,;ARHGEF25,synonymous_variant,p.%3D,ENST00000333972,;DTX3,downstream_gene_variant,,ENST00000337737,;DTX3,downstream_gene_variant,,ENST00000548804,;DTX3,downstream_gene_variant,,ENST00000548198,;DTX3,downstream_gene_variant,,ENST00000551632,;AC025165.8,intron_variant,,ENST00000356672,;AC025165.8,intron_variant,,ENST00000444467,;AC025165.8,downstream_gene_variant,,ENST00000593846,;AC025165.8,downstream_gene_variant,,ENST00000610219,;ARHGEF25,upstream_gene_variant,,ENST00000477314,;ARHGEF25,non_coding_transcript_exon_variant,,ENST00000471370,;ARHGEF25,upstream_gene_variant,,ENST00000484357,;ARHGEF25,upstream_gene_variant,,ENST00000466399,;ARHGEF25,upstream_gene_variant,,ENST00000469072,;	857	129	136	SUCCESS
HELB	92797	.	GRCh37	12	66703544	66703544	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	91	132	0	ENST00000247815.4:c.836A>T	p.Gln279Leu	p.Q279L	ENST00000247815	NM_033647.3	279	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS8976.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCAGTGTG	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF97	.	.	ENSP00000247815	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000247815	Transcript	.	.	ENSG00000127311	17196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	deleterious(0)	.	HELB_HUMAN	HELB	HGNC	.	.	UPI000013CC2D	SNV	HELB,missense_variant,p.Gln279Leu,ENST00000247815,;HELB,missense_variant,p.Gln279Leu,ENST00000440906,;HELB,missense_variant,p.Gln279Leu,ENST00000545134,;HELB,missense_variant,p.Gln279Leu,ENST00000542394,;	895	132	139	SUCCESS
ACSM4	341392	.	GRCh37	12	7470658	7470658	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	19	217	1	ENST00000399422.4:c.801G>C	p.Trp267Cys	p.W267C	ENST00000399422	NM_001080454.1	267	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS44825.1	801	MUTECT|MUSE	.	ATATGGAATAT	NONE	.	.	hmmpanther:PTHR24095:SF127,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000382349	.	5/13	.	.	.	.	.	.	.	.	COSM3872486,COSM3872487	5/13	PASS	ENST00000399422	Transcript	.	.	ENSG00000215009	32016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	ACSM4_HUMAN	ACSM4	HGNC	.	.	UPI0000DD812A	SNV	ACSM4,missense_variant,p.Trp267Cys,ENST00000399422,;ACSM4,non_coding_transcript_exon_variant,,ENST00000533292,;	849	218	269	SUCCESS
OTOGL	283310	.	GRCh37	12	80730730	80730730	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746266544	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	56	74	0	ENST00000547103.1:c.4743G>C	p.Lys1581Asn	p.K1581N	ENST00000547103		1581	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	.	4779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGTTAAA	NONE	byFrequency	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000400895	.	41/58	.	.	.	.	.	.	.	.	rs746266544	41/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	tolerated(0.25)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Lys1593Asn,ENST00000458043,;OTOGL,missense_variant,p.Lys36Asn,ENST00000298820,;OTOGL,missense_variant,p.Lys1581Asn,ENST00000547103,;	4785	74	108	SUCCESS
PTPRQ	374462	.	GRCh37	12	80936556	80936556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	20	142	0	ENST00000266688.5:c.3757G>T	p.Asp1253Tyr	p.D1253Y	ENST00000266688		1253	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	3757	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGACTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	28/50	.	.	.	.	.	.	.	.	.	28/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	tolerated(0.57)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Asp1253Tyr,ENST00000266688,;PTPRQ,downstream_gene_variant,,ENST00000547485,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000551624,;	3757	142	172	SUCCESS
PCDH9	5101	.	GRCh37	13	67801363	67801363	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	57	102	0	ENST00000377865.2:c.1210G>T	p.Glu404Ter	p.E404*	ENST00000377865		404	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS9444.1	1210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCAATAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,stop_gained,p.Glu404Ter,ENST00000377861,;PCDH9,stop_gained,p.Glu404Ter,ENST00000328454,;PCDH9,stop_gained,p.Glu404Ter,ENST00000544246,;PCDH9,stop_gained,p.Glu404Ter,ENST00000377865,;PCDH9,stop_gained,p.Glu404Ter,ENST00000456367,;	1902	102	65	SUCCESS
UNC79	57578	.	GRCh37	14	94079314	94079314	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	76	124	0	ENST00000393151.2:c.3926A>T	p.Lys1309Met	p.K1309M	ENST00000393151		1309	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS9911.2	3395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAAGCGAC	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	27/50	.	.	.	.	.	.	.	.	.	27/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Lys1309Met,ENST00000393151,;UNC79,missense_variant,p.Lys1132Met,ENST00000256339,;UNC79,missense_variant,p.Lys1331Met,ENST00000553484,;UNC79,missense_variant,p.Lys1309Met,ENST00000555664,;	4050	124	94	SUCCESS
WHAMMP3	339005	.	GRCh37	15	23194749	23194749	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	41	0	ENST00000400153.2:n.1740G>A		p.*580*	ENST00000400153				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUSE	.	CAGATCCTGCC	NONE	.	.	.	.	.	.	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000400153	Transcript	.	.	ENSG00000187667	27892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	WHAMMP3	HGNC	.	.	.	SNV	WHAMMP3,non_coding_transcript_exon_variant,,ENST00000400153,;WHAMMP3,upstream_gene_variant,,ENST00000558484,;WHAMMP3,downstream_gene_variant,,ENST00000560810,;WHAMMP3,non_coding_transcript_exon_variant,,ENST00000340286,;	1740	41	27	SUCCESS
FMN1	342184	.	GRCh37	15	33359290	33359290	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	56	111	1	ENST00000559047.1:c.2044-2015T>A		p.*682*	ENST00000559047	NM_001277313.1	266		0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS45209.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAGACTT	NONE	.	.	hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8	.	.	ENSP00000333950	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.53)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.Ser266Thr,ENST00000334528,;FMN1,missense_variant,p.Ser266Thr,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	796	112	79	SUCCESS
DUOX1	53905	.	GRCh37	15	45427708	45427708	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1451530875	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	106	0	ENST00000321429.4:c.532A>G	p.Ile178Val	p.I178V	ENST00000321429	NM_017434.3	178	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32221.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCATCTAT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000317997	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.06)	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,missense_variant,p.Ile178Val,ENST00000389037,;DUOX1,missense_variant,p.Ile178Val,ENST00000321429,;DUOX1,downstream_gene_variant,,ENST00000558322,;DUOX1,upstream_gene_variant,,ENST00000561166,;DUOX1,missense_variant,p.Ile178Val,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000558991,;	939	106	37	SUCCESS
DMXL2	23312	.	GRCh37	15	51828802	51828802	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	64	152	1	ENST00000251076.5:c.1875A>T	p.Ala625=	p.A625=	ENST00000251076	NM_015263.3	625	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS53946.1	1875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACTGCCCA	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	12/43	.	.	.	.	.	.	.	.	.	12/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,synonymous_variant,p.%3D,ENST00000449909,;DMXL2,synonymous_variant,p.%3D,ENST00000543779,;DMXL2,synonymous_variant,p.%3D,ENST00000251076,;	1965	153	87	SUCCESS
MYO5A	4644	.	GRCh37	15	52622690	52622690	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	91	179	0	ENST00000399231.3:c.4340A>T	p.Gln1447Leu	p.Q1447L	ENST00000399231	NM_000259.3	1447	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42037.1	4340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCTGGCCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273	.	.	ENSP00000382177	.	34/41	.	.	.	.	.	.	.	.	.	34/41	PASS	ENST00000399231	Transcript	1	.	ENSG00000197535	7602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	deleterious(0.02)	.	MYO5A_HUMAN	MYO5A	HGNC	Q9UES4_HUMAN	.	UPI0000E445E1	SNV	MYO5A,missense_variant,p.Gln177Leu,ENST00000399229,;MYO5A,missense_variant,p.Gln1472Leu,ENST00000358212,;MYO5A,missense_variant,p.Gln1447Leu,ENST00000399231,;MYO5A,missense_variant,p.Gln1444Leu,ENST00000399233,;MYO5A,missense_variant,p.Gln1420Leu,ENST00000356338,;MYO5A,missense_variant,p.Gln1445Leu,ENST00000553916,;	4584	179	139	SUCCESS
HCN4	10021	.	GRCh37	15	73615574	73615574	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	26	0	ENST00000261917.3:c.2860C>G	p.Leu954Val	p.L954V	ENST00000261917	NM_005477.2	954	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS10248.1	2860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGAGTCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375	.	.	ENSP00000261917	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.13)	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,missense_variant,p.Leu954Val,ENST00000261917,;	3854	26	15	SUCCESS
DNAH3	55567	.	GRCh37	16	21061288	21061288	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	58	0	ENST00000261383.3:c.4290A>T	p.Pro1430=	p.P1430=	ENST00000261383	NM_017539.1	1430	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10594.1	4290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTGGACC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	30/62	.	.	.	.	.	.	.	.	.	30/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,synonymous_variant,p.%3D,ENST00000261383,;DNAH3,synonymous_variant,p.%3D,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;	4290	58	56	SUCCESS
TRAF7	84231	.	GRCh37	16	2225896	2225896	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	76	168	0	ENST00000326181.6:c.1688A>T	p.Tyr563Phe	p.Y563F	ENST00000326181	NM_032271.2	563	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS10461.1	1688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTACTCCA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22844:SF164,hmmpanther:PTHR22844,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000318944	.	18/21	.	.	.	.	.	.	.	.	COSM1578116	18/21	PASS	ENST00000326181	Transcript	.	.	ENSG00000131653	20456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	TRAF7_HUMAN	TRAF7	HGNC	H3BR17_HUMAN,D3DU86_HUMAN	.	UPI000014186F	SNV	TRAF7,missense_variant,p.Tyr563Phe,ENST00000326181,;CASKIN1,downstream_gene_variant,,ENST00000343516,;TRAF7,downstream_gene_variant,,ENST00000567645,;TRAF7,downstream_gene_variant,,ENST00000570169,;TRAF7,downstream_gene_variant,,ENST00000569686,;TRAF7,downstream_gene_variant,,ENST00000564067,;	1820	168	195	SUCCESS
SLC6A10P	386757	.	GRCh37	16	32891008	32891008	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	62	227	0	ENST00000330048.5:n.2959T>A		p.*987*	ENST00000330048				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTAGTAGT	NONE	.	.	.	.	.	.	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000330048	Transcript	.	.	ENSG00000214617	11043	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC6A10P	HGNC	.	.	.	SNV	SLC6A10P,non_coding_transcript_exon_variant,,ENST00000330048,;SLC6A10P,downstream_gene_variant,,ENST00000561837,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000431994,;	2959	227	241	SUCCESS
PAPD5	0	.	GRCh37	16	50259196	50259196	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs759353281	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	90	1	ENST00000436909.3:c.1755A>G		p.X585_splice	ENST00000436909	NM_001040285.2	585	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS54006.1	1755	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTAGTAAG	NONE	.	.	hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF26	.	.	ENSP00000396995	.	11/13	.	.	.	.	.	.	.	.	rs759353281	11/13	PASS	ENST00000436909	Transcript	.	.	ENSG00000121274	30758	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAPD5_HUMAN	PAPD5	HGNC	Q5EBM7_HUMAN,G4U4J3_HUMAN,B7ZLC1_HUMAN,B4DRJ7_HUMAN	.	UPI00017A7DC6	SNV	PAPD5,synonymous_variant,p.%3D,ENST00000561678,;PAPD5,synonymous_variant,p.%3D,ENST00000436909,;PAPD5,synonymous_variant,p.%3D,ENST00000357464,;PAPD5,splice_region_variant,,ENST00000573002,;PAPD5,splice_region_variant,,ENST00000562717,;	1790	91	105	SUCCESS
PRR25	388199	.	GRCh37	16	855532	855532	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	53	0	ENST00000301698.1:c.90C>G	p.Pro30=	p.P30=	ENST00000301698	NM_001013638.1	30	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS45372.1	90	SOMATICSNIPER|VARSCANS	.	CACCCCACTTA	BUFFER|p.A27_A28delAA|c.76_81delGCAGCT|3	.	.	.	.	.	ENSP00000301698	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000301698	Transcript	.	.	ENSG00000167945	37230	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRR25_HUMAN	PRR25	HGNC	.	.	UPI000006D077	SNV	PRR25,synonymous_variant,p.%3D,ENST00000301698,;GNG13,upstream_gene_variant,,ENST00000248150,;CHTF18,downstream_gene_variant,,ENST00000564940,;	90	53	47	SUCCESS
RAP1GAP2	23108	.	GRCh37	17	2929754	2929754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	89	133	0	ENST00000254695.8:c.1976G>A	p.Ser659Asn	p.S659N	ENST00000254695	NM_015085.4	659	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS45573.1	1976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGTGGGG	NONE	.	.	hmmpanther:PTHR15711:SF17,hmmpanther:PTHR15711	.	.	ENSP00000254695	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000254695	Transcript	.	.	ENSG00000132359	29176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.05)	.	RPGP2_HUMAN	RAP1GAP2	HGNC	.	.	UPI0000D622A3	SNV	RAP1GAP2,missense_variant,p.Ser640Asn,ENST00000540393,;RAP1GAP2,missense_variant,p.Ser644Asn,ENST00000366401,;RAP1GAP2,missense_variant,p.Ser659Asn,ENST00000542807,;RAP1GAP2,missense_variant,p.Ser659Asn,ENST00000254695,;RAP1GAP2,downstream_gene_variant,,ENST00000575979,;	2066	133	108	SUCCESS
KRTAP4-2	85291	.	GRCh37	17	39334191	39334191	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	62	67	0	ENST00000377726.2:c.226T>A	p.Cys76Ser	p.C76S	ENST00000377726	NM_033062.3	76	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS11384.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCAGCAGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF43	.	.	ENSP00000366955	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377726	Transcript	.	.	ENSG00000244537	18900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	tolerated(0.06)	.	KRA42_HUMAN	KRTAP4-2	HGNC	.	.	UPI0000246F2E	SNV	KRTAP4-2,missense_variant,p.Cys76Ser,ENST00000377726,;	270	67	80	SUCCESS
KRT34	3885	.	GRCh37	17	39535916	39535916	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	82	165	0	ENST00000394001.1:c.782T>C	p.Val261Ala	p.V261A	ENST00000394001	NM_021013.3	261	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS11390.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCACAGTG	NONE	.	.	hmmpanther:PTHR23239:SF165,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000377570	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000394001	Transcript	.	.	ENSG00000131737	6452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	deleterious(0.03)	.	KRT34_HUMAN	KRT34	HGNC	.	.	UPI000013CD0C	SNV	KRT34,missense_variant,p.Val261Ala,ENST00000394001,;	813	165	114	SUCCESS
KRT38	8687	.	GRCh37	17	39597173	39597173	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	104	181	0	ENST00000246646.3:c.1A>G	p.Met1?	p.M1?	ENST00000246646	NM_006771.3	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS11392.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATGGTGT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	.	.	ENSP00000246646	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.24)	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,start_lost,p.Met1?,ENST00000246646,;	1	181	136	SUCCESS
CYB561	1534	.	GRCh37	17	61513455	61513455	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761669903	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	52	102	0	ENST00000360793.3:c.261C>A	p.His87Gln	p.H87Q	ENST00000360793	NM_001915.3	87	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS11636.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGTGCAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50939,hmmpanther:PTHR10106,hmmpanther:PTHR10106:SF6,Gene3D:1.20.950.20,Pfam_domain:PF03188,SMART_domains:SM00665	.	.	ENSP00000376702	.	3/6	.	.	.	.	.	.	.	.	rs761669903,COSM1721194	3/6	PASS	ENST00000392976	Transcript	.	.	ENSG00000008283	2571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	CY561_HUMAN	CYB561	HGNC	J3QS47_HUMAN	.	UPI0000126C79	SNV	CYB561,missense_variant,p.His141Gln,ENST00000580691,;CYB561,missense_variant,p.His87Gln,ENST00000581573,;CYB561,missense_variant,p.His87Gln,ENST00000360793,;CYB561,missense_variant,p.His87Gln,ENST00000448884,;CYB561,missense_variant,p.His87Gln,ENST00000584291,;CYB561,missense_variant,p.His87Gln,ENST00000392975,;CYB561,missense_variant,p.His87Gln,ENST00000584031,;CYB561,missense_variant,p.His87Gln,ENST00000392976,;CYB561,missense_variant,p.His87Gln,ENST00000582297,;CYB561,missense_variant,p.His94Gln,ENST00000582997,;CYB561,missense_variant,p.His87Gln,ENST00000578072,;CYB561,missense_variant,p.His58Gln,ENST00000582034,;CYB561,missense_variant,p.His154Gln,ENST00000542042,;CYB561,downstream_gene_variant,,ENST00000580592,;CYB561,upstream_gene_variant,,ENST00000585153,;RP11-269G24.4,upstream_gene_variant,,ENST00000584608,;CYB561,non_coding_transcript_exon_variant,,ENST00000577989,;CYB561,non_coding_transcript_exon_variant,,ENST00000581163,;CYB561,non_coding_transcript_exon_variant,,ENST00000578016,;CYB561,non_coding_transcript_exon_variant,,ENST00000577368,;CYB561,downstream_gene_variant,,ENST00000583478,;CYB561,upstream_gene_variant,,ENST00000582143,;	561	102	88	SUCCESS
CCDC47	57003	.	GRCh37	17	61829358	61829358	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776194405	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	67	130	0	ENST00000225726.5:c.1313G>T	p.Arg438Ile	p.R438I	ENST00000225726	NM_020198.2	438	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS11643.1	1313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12883,Pfam_domain:PF07946	.	.	ENSP00000225726	.	12/13	.	.	.	.	.	.	.	.	rs776194405	12/13	PASS	ENST00000225726	Transcript	.	.	ENSG00000108588	24856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCD47_HUMAN	CCDC47	HGNC	.	.	UPI000003B0A2	SNV	CCDC47,missense_variant,p.Arg438Ile,ENST00000582252,;CCDC47,missense_variant,p.Arg438Ile,ENST00000225726,;CCDC47,missense_variant,p.Arg438Ile,ENST00000403162,;RP11-51F16.8,missense_variant,p.Arg34Ile,ENST00000580553,;CCDC47,downstream_gene_variant,,ENST00000582331,;	1696	130	106	SUCCESS
TP53	7157	.	GRCh37	17	7579312	7579312	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	rs55863639	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	112	139	0	ENST00000269305.4:c.375G>T		p.X125_splice	ENST00000269305	NM_001126112.2	125	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS11118.1	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CTGACCGTGCA	SITE|p.T125T|c.375G>T|10,SITE|p.T125T|c.375G>T|3,SITE|p.T125T|c.375G>T|12,SITE|p.T125T|c.375G>T|12,SITE|p.T125T|c.375G>T|17,CODON|p.0?|c.1_1182del1182|6,CODON|p.T125T|c.375G>A|19,CODON|p.T125T|c.375G>C|3,CODON|p.T125T|c.375G>A|3,CODON|p.T125T|c.375G>C|5,CODON|p.T125T|c.375G>C|3,CODON|p.T125T|c.375G>A|11,CODON|p.T125T|c.375G>A|11,CODON|p.T125T|c.375G>A|3,CODON|p.G59fs*23|c.175_374del200|3,CODON|p.T125M|c.374C>T|10,CODON|p.T125M|c.374C>T|3,CODON|p.T125K|c.374C>A|4,CODON|p.T125M|c.374C>T|4,CODON|p.T125M|c.374C>T|17,CODON|p.T125M|c.374C>T|10,CODON|p.T125R|c.374C>G|3,BUFFER|p.?|c.375+2T>C|3,BUFFER|p.?|c.375+1G>A|7,BUFFER|p.?|c.375+1G>A|7,BUFFER|p.?|c.375+1G>T|5,BUFFER|p.?|c.375+1G>T|5,BUFFER|p.?|c.375+1G>T|3,BUFFER|p.?|c.375+1G>A|11,BUFFER|p.?|c.375+1G>A|6,BUFFER|p.?|c.375+1G>A|6,BUFFER|p.?|c.375+1G>T|8,BUFFER|p.T125P|c.373A>C|3,BUFFER|p.C124*|c.372C>A|4,BUFFER|p.C124*|c.372C>A|4,BUFFER|p.C124*|c.372C>A|4,BUFFER|p.C124G|c.370T>G|3,BUFFER|p.C124R|c.370T>C|3,BUFFER|p.V122fs*26|c.365_366delTG|4,BUFFER|p.V122fs*26|c.365_366delTG|4,BUFFER|p.V122fs*26|c.365_366delTG|6	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	CS971913,CS011573,CS004351,rs55863639,TP53_g.11606G>T,TP53_g.11606G>C,TP53_g.11606G>A,COSM45940,COSM46152,COSM43904,COSM292894,COSM381995,COSM437621,COSM292893,COSM437622,COSM381996,COSM3388231,COSM3403299,COSM4070058,COSM1638003,COSM4070057,COSM2744976	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25730903	.	.	.	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,synonymous_variant,p.%3D,ENST00000508793,;TP53,synonymous_variant,p.%3D,ENST00000413465,;TP53,synonymous_variant,p.%3D,ENST00000604348,;TP53,synonymous_variant,p.%3D,ENST00000420246,;TP53,synonymous_variant,p.%3D,ENST00000269305,;TP53,synonymous_variant,p.%3D,ENST00000359597,;TP53,synonymous_variant,p.%3D,ENST00000445888,;TP53,synonymous_variant,p.%3D,ENST00000503591,;TP53,synonymous_variant,p.%3D,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	565	139	143	SUCCESS
FHOD3	80206	.	GRCh37	18	34182638	34182638	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	84	168	2	ENST00000359247.4:c.720G>A		p.X240_splice	ENST00000359247	NM_001281739.1	240	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32816.1	720	RADIA|SOMATICSNIPER|VARSCANS	.	ATAGGGGTCAA	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,Superfamily_domains:SSF48371	.	.	ENSP00000257209	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,synonymous_variant,p.%3D,ENST00000445677,;FHOD3,synonymous_variant,p.%3D,ENST00000590592,;FHOD3,synonymous_variant,p.%3D,ENST00000257209,;FHOD3,synonymous_variant,p.%3D,ENST00000592930,;FHOD3,synonymous_variant,p.%3D,ENST00000359247,;FHOD3,splice_region_variant,,ENST00000591635,;FHOD3,splice_region_variant,,ENST00000589114,;	842	170	199	SUCCESS
FHOD3	80206	.	GRCh37	18	34205566	34205566	+	synonymous_variant	Silent	SNP	C	C	T	rs531088835	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	78	128	0	ENST00000359247.4:c.1050C>T	p.Gly350=	p.G350=	ENST00000359247	NM_001281739.1	350	ggC/ggT	0	.	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS32816.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCGGAGG	NONE	by1000G	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,Superfamily_domains:SSF48371	T:0.001	.	ENSP00000257209	T:0	10/25	.	.	.	.	.	.	.	.	rs531088835	10/25	PASS	ENST00000257209	Transcript	.	T:0.0002	ENSG00000134775	26178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Ala25Val,ENST00000591635,;FHOD3,synonymous_variant,p.%3D,ENST00000445677,;FHOD3,synonymous_variant,p.%3D,ENST00000590592,;FHOD3,synonymous_variant,p.%3D,ENST00000257209,;FHOD3,synonymous_variant,p.%3D,ENST00000592930,;FHOD3,synonymous_variant,p.%3D,ENST00000359247,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	1172	128	174	SUCCESS
TCF4	6925	.	GRCh37	18	53018190	53018190	+	synonymous_variant	Silent	SNP	G	G	A	rs201061418	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	88	158	1	ENST00000356073.4:c.414C>T	p.Thr138=	p.T138=	ENST00000356073	NM_003199.2	138	acC/acT	0	C:0.0002	C:0.0008	.	C:0	.	A	T	protein_coding	YES	CCDS58631.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGGTTCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10	C:0	C:0	ENSP00000381382	C:0	8/21	.	.	.	.	.	.	.	.	rs201061418	8/21	PASS	ENST00000398339	Transcript	.	C:0.0002	ENSG00000196628	11634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	TCF4	HGNC	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN,E9PH57_HUMAN	.	UPI000059D58C	SNV	TCF4,synonymous_variant,p.%3D,ENST00000562638,;TCF4,synonymous_variant,p.%3D,ENST00000565018,;TCF4,synonymous_variant,p.%3D,ENST00000568673,;TCF4,synonymous_variant,p.%3D,ENST00000537578,;TCF4,synonymous_variant,p.%3D,ENST00000562030,;TCF4,synonymous_variant,p.%3D,ENST00000398339,;TCF4,synonymous_variant,p.%3D,ENST00000543082,;TCF4,synonymous_variant,p.%3D,ENST00000564228,;TCF4,synonymous_variant,p.%3D,ENST00000566777,;TCF4,synonymous_variant,p.%3D,ENST00000354452,;TCF4,synonymous_variant,p.%3D,ENST00000564343,;TCF4,synonymous_variant,p.%3D,ENST00000540999,;TCF4,synonymous_variant,p.%3D,ENST00000569012,;TCF4,synonymous_variant,p.%3D,ENST00000563888,;TCF4,synonymous_variant,p.%3D,ENST00000590810,;TCF4,synonymous_variant,p.%3D,ENST00000568169,;TCF4,synonymous_variant,p.%3D,ENST00000564999,;TCF4,synonymous_variant,p.%3D,ENST00000566514,;TCF4,synonymous_variant,p.%3D,ENST00000565908,;TCF4,synonymous_variant,p.%3D,ENST00000561992,;TCF4,synonymous_variant,p.%3D,ENST00000568740,;TCF4,synonymous_variant,p.%3D,ENST00000570177,;TCF4,synonymous_variant,p.%3D,ENST00000544241,;TCF4,synonymous_variant,p.%3D,ENST00000568186,;TCF4,synonymous_variant,p.%3D,ENST00000562512,;TCF4,synonymous_variant,p.%3D,ENST00000564403,;TCF4,synonymous_variant,p.%3D,ENST00000563824,;TCF4,synonymous_variant,p.%3D,ENST00000537856,;TCF4,synonymous_variant,p.%3D,ENST00000566286,;TCF4,synonymous_variant,p.%3D,ENST00000562607,;TCF4,synonymous_variant,p.%3D,ENST00000562543,;TCF4,synonymous_variant,p.%3D,ENST00000568147,;TCF4,synonymous_variant,p.%3D,ENST00000356073,;TCF4,intron_variant,,ENST00000566279,;TCF4,intron_variant,,ENST00000567880,;TCF4,downstream_gene_variant,,ENST00000562847,;TCF4,non_coding_transcript_exon_variant,,ENST00000566376,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;TCF4,non_coding_transcript_exon_variant,,ENST00000563686,;	777	159	179	SUCCESS
DOT1L	84444	.	GRCh37	19	2214500	2214500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	331	16	155	0	ENST00000398665.3:c.1828G>T	p.Asp610Tyr	p.D610Y	ENST00000398665	NM_032482.2	610	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS42460.1	1828	MUTECT|MUSE	.	AGCTGGACTGG	NONE	.	.	hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,PIRSF_domain:PIRSF037123	.	.	ENSP00000381657	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,missense_variant,p.Asp74Tyr,ENST00000586024,;DOT1L,missense_variant,p.Asp610Tyr,ENST00000398665,;AC004490.1,non_coding_transcript_exon_variant,,ENST00000585593,;DOT1L,non_coding_transcript_exon_variant,,ENST00000591498,;DOT1L,non_coding_transcript_exon_variant,,ENST00000608122,;DOT1L,non_coding_transcript_exon_variant,,ENST00000472540,;DOT1L,upstream_gene_variant,,ENST00000482433,;	1864	155	347	SUCCESS
ZNF91	7644	.	GRCh37	19	23544469	23544469	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	55	0	ENST00000300619.7:c.1312G>A	p.Glu438Lys	p.E438K	ENST00000300619	NM_003430.2	438	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS42541.1	1312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCTTCAC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	deleterious(0.01)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Glu406Lys,ENST00000397082,;ZNF91,missense_variant,p.Glu438Lys,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	1518	55	46	SUCCESS
PEPD	5184	.	GRCh37	19	34001941	34001941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	60	0	ENST00000244137.7:c.322A>T	p.Met108Leu	p.M108L	ENST00000244137	NM_000285.3	108	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS42544.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCATCCAGG	NONE	.	.	hmmpanther:PTHR10804:SF17,hmmpanther:PTHR10804,Gene3D:3.40.350.10,Pfam_domain:PF05195,SMART_domains:SM01011,Superfamily_domains:SSF53092	.	.	ENSP00000244137	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000244137	Transcript	1	.	ENSG00000124299	8840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.28)	.	PEPD_HUMAN	PEPD	HGNC	K7EQ51_HUMAN	.	UPI000006F8BF	SNV	PEPD,missense_variant,p.Met108Leu,ENST00000244137,;PEPD,missense_variant,p.Met108Leu,ENST00000397032,;PEPD,intron_variant,,ENST00000436370,;PEPD,missense_variant,p.Met36Leu,ENST00000590408,;PEPD,non_coding_transcript_exon_variant,,ENST00000593163,;	356	60	82	SUCCESS
CACTIN	58509	.	GRCh37	19	3612206	3612206	+	synonymous_variant	Silent	SNP	G	G	A	rs754086361	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	409	250	0	ENST00000221899.3:c.1788C>T	p.Asp596=	p.D596=	ENST00000221899		596	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS45920.1	1992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGTCGTA	NONE	.	.	hmmpanther:PTHR21737:SF6,hmmpanther:PTHR21737,Pfam_domain:PF09732,SMART_domains:SM01050	.	.	ENSP00000415078	.	10/10	.	.	.	.	.	.	.	.	rs754086361	10/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,synonymous_variant,p.%3D,ENST00000248420,;CACTIN,synonymous_variant,p.%3D,ENST00000592721,;CACTIN,synonymous_variant,p.%3D,ENST00000591726,;CACTIN,synonymous_variant,p.%3D,ENST00000429344,;CACTIN,synonymous_variant,p.%3D,ENST00000221899,;CACTIN,downstream_gene_variant,,ENST00000588749,;CACTIN-AS1,non_coding_transcript_exon_variant,,ENST00000592274,;CACTIN,synonymous_variant,p.%3D,ENST00000585942,;CACTIN,3_prime_UTR_variant,,ENST00000589321,;CACTIN,non_coding_transcript_exon_variant,,ENST00000587175,;CACTIN,downstream_gene_variant,,ENST00000591978,;	2045	250	558	SUCCESS
ZNF260	339324	.	GRCh37	19	37005748	37005748	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	36	79	0	ENST00000523638.1:c.393A>T	p.Thr131=	p.T131=	ENST00000523638	NM_001166038.1	131	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33003.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTGTATG	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24377:SF133,hmmpanther:PTHR24377	.	.	ENSP00000429803	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523638	Transcript	.	.	ENSG00000254004	13499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN260_HUMAN	ZNF260	HGNC	.	.	UPI00001984F1	SNV	ZNF260,synonymous_variant,p.%3D,ENST00000588993,;ZNF260,synonymous_variant,p.%3D,ENST00000592282,;ZNF260,synonymous_variant,p.%3D,ENST00000523638,;ZNF260,synonymous_variant,p.%3D,ENST00000593142,;	1515	79	192	SUCCESS
ZNF567	163081	.	GRCh37	19	37210908	37210908	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	10	35	0	ENST00000536254.2:c.1282A>T	p.Lys428Ter	p.K428*	ENST00000536254		428	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS12495.1	1189	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGAAATCC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24404:SF25,hmmpanther:PTHR24404,PROSITE_profiles:PS50157	.	.	ENSP00000467379	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000585696	Transcript	.	.	ENSG00000189042	28696	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN567_HUMAN	ZNF567	HGNC	.	.	UPI00001BBFD4	SNV	ZNF567,stop_gained,p.Lys397Ter,ENST00000392163,;ZNF567,stop_gained,p.Lys397Ter,ENST00000360729,;ZNF567,stop_gained,p.Lys428Ter,ENST00000536254,;ZNF567,stop_gained,p.Lys397Ter,ENST00000585696,;ZNF567,stop_gained,p.Lys397Ter,ENST00000588311,;ZNF567,intron_variant,,ENST00000589264,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000591308,;	2419	35	89	SUCCESS
BLVRB	645	.	GRCh37	19	40971596	40971596	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	157	104	0	ENST00000263368.4:c.-1G>T		p.*1*	ENST00000263368	NM_000713.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33029.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGTACG	NONE	.	.	.	.	.	ENSP00000263368	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000263368	Transcript	.	.	ENSG00000090013	1063	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BLVRB_HUMAN	BLVRB	HGNC	.	.	UPI0000111B1A	SNV	BLVRB,5_prime_UTR_variant,,ENST00000263368,;BLVRB,5_prime_UTR_variant,,ENST00000595483,;SPTBN4,upstream_gene_variant,,ENST00000352632,;SPTBN4,upstream_gene_variant,,ENST00000338932,;SPTBN4,upstream_gene_variant,,ENST00000598249,;SPTBN4,upstream_gene_variant,,ENST00000595535,;SPTBN4,upstream_gene_variant,,ENST00000344104,;BLVRB,5_prime_UTR_variant,,ENST00000597870,;	152	104	228	SUCCESS
ZNF224	7767	.	GRCh37	19	44611314	44611314	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	38	66	0	ENST00000336976.6:c.1001A>T	p.His334Leu	p.H334L	ENST00000336976	NM_013398.2	334	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS33046.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCATCGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF254,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337368	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000336976	Transcript	.	.	ENSG00000267680	13017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN224_HUMAN	ZNF224	HGNC	Q9HCA8_HUMAN,K7ENI7_HUMAN,K7EL24_HUMAN,K7EJ30_HUMAN	.	UPI00002025B3	SNV	ZNF224,missense_variant,p.His334Leu,ENST00000336976,;ZNF224,downstream_gene_variant,,ENST00000591511,;AC084219.4,non_coding_transcript_exon_variant,,ENST00000592946,;AC084219.4,downstream_gene_variant,,ENST00000590369,;ZNF224,non_coding_transcript_exon_variant,,ENST00000591551,;	1255	66	156	SUCCESS
BCL3	602	.	GRCh37	19	45260278	45260278	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	375	85	183	0	ENST00000164227.5:c.524C>T	p.Pro175Leu	p.P175L	ENST00000164227	NM_005178.4	175	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12642.2	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACCGCTCC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24118:SF44,hmmpanther:PTHR24118,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000164227	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000164227	Transcript	.	.	ENSG00000069399	998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BCL3_HUMAN	BCL3	HGNC	.	.	UPI0000D4AF29	SNV	BCL3,missense_variant,p.Pro175Leu,ENST00000164227,;BCL3,missense_variant,p.Pro59Leu,ENST00000444487,;BCL3,non_coding_transcript_exon_variant,,ENST00000473468,;BCL3,non_coding_transcript_exon_variant,,ENST00000464319,;BCL3,non_coding_transcript_exon_variant,,ENST00000403534,;BCL3,upstream_gene_variant,,ENST00000473473,;BCL3,upstream_gene_variant,,ENST00000474300,;BCL3,upstream_gene_variant,,ENST00000477832,;	768	183	460	SUCCESS
BRSK1	84446	.	GRCh37	19	55795935	55795935	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	380	78	266	0	ENST00000309383.1:c.125A>T	p.Lys42Ile	p.K42I	ENST00000309383	NM_032430.1	42	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS12921.1	125	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAAAGGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000310649	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	deleterious(0.02)	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,missense_variant,p.Lys42Ile,ENST00000585418,;BRSK1,missense_variant,p.Lys42Ile,ENST00000309383,;BRSK1,missense_variant,p.Lys58Ile,ENST00000590333,;HSPBP1,upstream_gene_variant,,ENST00000585698,;HSPBP1,upstream_gene_variant,,ENST00000587959,;HSPBP1,upstream_gene_variant,,ENST00000585927,;HSPBP1,upstream_gene_variant,,ENST00000433386,;HSPBP1,upstream_gene_variant,,ENST00000593263,;HSPBP1,upstream_gene_variant,,ENST00000376343,;HSPBP1,upstream_gene_variant,,ENST00000255631,;HSPBP1,upstream_gene_variant,,ENST00000587551,;HSPBP1,upstream_gene_variant,,ENST00000587922,;HSPBP1,upstream_gene_variant,,ENST00000588971,;BRSK1,intron_variant,,ENST00000592539,;	402	266	458	SUCCESS
FAM71E2	284418	.	GRCh37	19	55870535	55870535	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	19	56	0	ENST00000424985.3:c.1701G>A	p.Leu567=	p.L567=	ENST00000424985	NM_001145402.1	567	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	.	1701	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCAACAC	NONE	.	.	hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF1	.	.	ENSP00000398617	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000424985	Transcript	.	.	ENSG00000180043	25278	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F71E2_HUMAN	FAM71E2	HGNC	.	.	UPI0001949ABA	SNV	FAM71E2,synonymous_variant,p.%3D,ENST00000424985,;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,;COX6B2,upstream_gene_variant,,ENST00000589467,;COX6B2,upstream_gene_variant,,ENST00000590900,;CTD-2105E13.6,synonymous_variant,p.%3D,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587357,;COX6B2,upstream_gene_variant,,ENST00000587854,;	1895	56	137	SUCCESS
CATSPERD	257062	.	GRCh37	19	5772804	5772804	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369818912	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	60	142	0	ENST00000381624.3:c.1769G>A	p.Arg590Gln	p.R590Q	ENST00000381624	NM_152784.3	590	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12149.2	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGAAAAG	NONE	byFrequency|byCluster	.	Pfam_domain:PF15020	.	A:0.0001	ENSP00000371037	.	20/22	.	.	.	.	.	.	.	.	rs369818912,COSM3540365	20/22	PASS	ENST00000381624	Transcript	.	.	ENSG00000174898	28598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.062)	.	tolerated(0.22)	0,1	CTSRD_HUMAN	CATSPERD	HGNC	.	.	UPI000059D641	SNV	CATSPERD,missense_variant,p.Arg590Gln,ENST00000381624,;CATSPERD,downstream_gene_variant,,ENST00000381614,;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,upstream_gene_variant,,ENST00000448307,;	1830	142	188	SUCCESS
ZNF135	7694	.	GRCh37	19	58578450	58578450	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	31	47	0	ENST00000313434.5:c.598G>C	p.Asp200His	p.D200H	ENST00000313434	NM_003436.3	200	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS54329.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGACCTA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245	.	.	ENSP00000441410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.22)	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Asp224His,ENST00000401053,;ZNF135,missense_variant,p.Asp158His,ENST00000506786,;ZNF135,missense_variant,p.Asp200His,ENST00000313434,;ZNF135,missense_variant,p.Asp212His,ENST00000359978,;ZNF135,missense_variant,p.Asp212His,ENST00000511556,;ZNF135,missense_variant,p.Asp200His,ENST00000439855,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	673	47	101	SUCCESS
MUC16	94025	.	GRCh37	19	9065780	9065780	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	98	246	0	ENST00000397910.4:c.21666T>A	p.Thr7222=	p.T7222=	ENST00000397910	NM_024690.2	7222	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54212.1	21666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAGTTGT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	21870	247	142	SUCCESS
GSTM5	2949	.	GRCh37	1	110259850	110259850	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	33	29	0	ENST00000256593.3:c.568-109C>A		p.*190*	ENST00000256593	NM_000851.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS811.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCCACAT	NONE	.	.	.	.	.	ENSP00000256593	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256593	Transcript	.	.	ENSG00000134201	4637	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTM5_HUMAN	GSTM5	HGNC	Q5T8R2_HUMAN	.	UPI000013CF16	SNV	GSTM5,3_prime_UTR_variant,,ENST00000369813,;GSTM5,intron_variant,,ENST00000369812,;GSTM5,intron_variant,,ENST00000256593,;GSTM5,non_coding_transcript_exon_variant,,ENST00000492718,;GSTM5,intron_variant,,ENST00000429410,;GSTM5,intron_variant,,ENST00000483153,;	.	29	38	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144923732	144923732	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	296	113	372	0	ENST00000369354.3:c.726A>T	p.Ala242=	p.A242=	ENST00000369354		242	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS55627.1	726	RADIA|SOMATICSNIPER|VARSCANS	.	AGTTCTGCCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	6/44	.	.	.	.	.	.	.	.	.	6/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000479408,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369349,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313431,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,synonymous_variant,p.%3D,ENST00000529945,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369351,;PDE4DIP,intron_variant,,ENST00000532801,;PDE4DIP,upstream_gene_variant,,ENST00000467859,;PDE4DIP,upstream_gene_variant,,ENST00000496263,;PDE4DIP,upstream_gene_variant,,ENST00000525886,;	1017	372	410	SUCCESS
PGLYRP4	57115	.	GRCh37	1	153318651	153318651	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	125	206	0	ENST00000359650.5:c.66C>A	p.Asn22Lys	p.N22K	ENST00000359650	NM_020393.2	22	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS30871.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTGTTCCA	NONE	.	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12	.	.	ENSP00000352672	.	3/9	.	.	.	.	.	.	.	.	COSM163425	3/9	PASS	ENST00000359650	Transcript	.	.	ENSG00000163218	30015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated_low_confidence(0.14)	1	PGRP4_HUMAN	PGLYRP4	HGNC	.	.	UPI000013F78A	SNV	PGLYRP4,missense_variant,p.Asn22Lys,ENST00000368739,;PGLYRP4,missense_variant,p.Asn22Lys,ENST00000359650,;PGLYRP4,non_coding_transcript_exon_variant,,ENST00000490266,;	131	206	272	SUCCESS
EFNA4	1945	.	GRCh37	1	155039354	155039354	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	74	159	0	ENST00000368409.3:c.262G>T	p.Ala88Ser	p.A88S	ENST00000368409	NM_005227.2	88	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS44237.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGCAGAG	NONE	.	.	PROSITE_profiles:PS51551,hmmpanther:PTHR11304:SF6,hmmpanther:PTHR11304,Gene3D:2.60.40.420,Pfam_domain:PF00812,Superfamily_domains:SSF49503	.	.	ENSP00000414378	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000427683	Transcript	.	.	ENSG00000243364	3224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.53)	.	EFNA4_HUMAN	EFNA4	HGNC	.	.	UPI00001B5785	SNV	EFNA4,missense_variant,p.Ala88Ser,ENST00000368409,;EFNA4,missense_variant,p.Ala88Ser,ENST00000427683,;EFNA4,missense_variant,p.Ala88Ser,ENST00000359751,;EFNA3,intron_variant,,ENST00000556931,;EFNA3,intron_variant,,ENST00000505139,;ADAM15,downstream_gene_variant,,ENST00000531455,;ADAM15,downstream_gene_variant,,ENST00000355956,;ADAM15,downstream_gene_variant,,ENST00000449910,;ADAM15,downstream_gene_variant,,ENST00000271836,;ADAM15,downstream_gene_variant,,ENST00000359280,;ADAM15,downstream_gene_variant,,ENST00000368412,;ADAM15,downstream_gene_variant,,ENST00000356955,;ADAM15,downstream_gene_variant,,ENST00000360674,;ADAM15,downstream_gene_variant,,ENST00000368410,;ADAM15,downstream_gene_variant,,ENST00000368413,;ADAM15,downstream_gene_variant,,ENST00000461234,;ADAM15,downstream_gene_variant,,ENST00000472434,;ADAM15,downstream_gene_variant,,ENST00000474709,;ADAM15,downstream_gene_variant,,ENST00000529473,;ADAM15,downstream_gene_variant,,ENST00000527418,;ADAM15,downstream_gene_variant,,ENST00000526491,;ADAM15,downstream_gene_variant,,ENST00000498481,;ADAM15,downstream_gene_variant,,ENST00000464824,;	325	159	217	SUCCESS
CD5L	922	.	GRCh37	1	157804417	157804417	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	53	85	0	ENST00000368174.4:c.498C>T	p.Gly166=	p.G166=	ENST00000368174	NM_005894.2	166	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1171.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCCTGT	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,synonymous_variant,p.%3D,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	595	85	118	SUCCESS
SPTA1	6708	.	GRCh37	1	158590172	158590172	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	322	31	245	0	ENST00000368147.4:c.6205C>A	p.Pro2069Thr	p.P2069T	ENST00000368147	NM_003126.2	2069	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41423.1	6205	MUTECT|MUSE|VARSCANS	.	CACAGGCTCTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	44/52	.	.	.	.	.	.	.	.	COSM373929	44/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.914)	.	deleterious(0.01)	1	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Pro2069Thr,ENST00000368147,;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	6386	245	353	SUCCESS
HSPA6	3310	.	GRCh37	1	161495008	161495008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	110	249	0	ENST00000309758.4:c.560T>A	p.Leu187Gln	p.L187Q	ENST00000309758	NM_002155.3	187	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1231.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCTGGACC	NONE	.	.	Superfamily_domains:SSF53067,Gene3D:3.30.420.40,Pfam_domain:PF00012,hmmpanther:PTHR19375:SF168,hmmpanther:PTHR19375	.	.	ENSP00000310219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309758	Transcript	.	.	ENSG00000173110	5239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	HSP76_HUMAN	HSPA6	HGNC	.	.	UPI0000074238	SNV	HSPA6,missense_variant,p.Leu187Gln,ENST00000309758,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;	973	249	291	SUCCESS
MST1L	11223	.	GRCh37	1	17085033	17085033	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	351	67	597	0	ENST00000389184.2:n.1349A>T		p.*450*	ENST00000389184				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGATCC	NONE	.	.	.	.	.	.	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000389184	Transcript	.	.	ENSG00000186715	7390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MST1L	HGNC	.	.	.	SNV	MST1L,non_coding_transcript_exon_variant,,ENST00000455405,;MST1L,non_coding_transcript_exon_variant,,ENST00000544155,;CROCC,intron_variant,,ENST00000466256,;MST1L,downstream_gene_variant,,ENST00000545160,;MST1L,non_coding_transcript_exon_variant,,ENST00000442552,;MST1L,non_coding_transcript_exon_variant,,ENST00000389184,;	1349	598	419	SUCCESS
COLGALT2	23127	.	GRCh37	1	183933105	183933105	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs756680377	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	118	218	0	ENST00000361927.4:c.882C>G	p.Ile294Met	p.I294M	ENST00000361927	NM_015101.2	294	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1360.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGATGGG	NONE	.	.	hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	6/12	.	.	.	.	.	.	.	.	rs756680377	6/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.03)	.	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,missense_variant,p.Ile31Met,ENST00000367520,;COLGALT2,missense_variant,p.Ile294Met,ENST00000361927,;COLGALT2,missense_variant,p.Ile294Met,ENST00000546159,;	1254	218	262	SUCCESS
RGS18	64407	.	GRCh37	1	192128370	192128370	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1260393099	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	68	0	ENST00000367460.3:c.140G>C	p.Arg47Thr	p.R47T	ENST00000367460	NM_130782.2	47	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS1374.1	140	RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGACTAA	NONE	.	.	hmmpanther:PTHR10845:SF153,hmmpanther:PTHR10845	.	.	ENSP00000356430	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000367460	Transcript	.	.	ENSG00000150681	14261	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RGS18_HUMAN	RGS18	HGNC	.	.	UPI0000044571	SNV	RGS18,missense_variant,p.Arg47Thr,ENST00000367460,;RGS18,non_coding_transcript_exon_variant,,ENST00000492967,;RGS18,non_coding_transcript_exon_variant,,ENST00000481707,;RGS18,non_coding_transcript_exon_variant,,ENST00000491030,;	321	68	122	SUCCESS
TROVE2	0	.	GRCh37	1	193046176	193046176	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs775714104	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	56	79	0	ENST00000367446.3:c.1082T>G	p.Phe361Cys	p.F361C	ENST00000367446	NM_004600.5	361	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS1379.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATTTAAGG	NONE	.	.	PROSITE_profiles:PS50988,hmmpanther:PTHR14202:SF0,hmmpanther:PTHR14202,Pfam_domain:PF05731,Superfamily_domains:0051422	.	.	ENSP00000356416	.	5/9	.	.	.	.	.	.	.	.	rs775714104	5/9	PASS	ENST00000367446	Transcript	.	.	ENSG00000116747	11313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	RO60_HUMAN	TROVE2	HGNC	G5E9R9_HUMAN,D6RDN1_HUMAN	.	UPI0000072E7F	SNV	TROVE2,missense_variant,p.Phe361Cys,ENST00000367444,;TROVE2,missense_variant,p.Phe86Cys,ENST00000432079,;TROVE2,missense_variant,p.Phe86Cys,ENST00000416058,;TROVE2,missense_variant,p.Phe361Cys,ENST00000400968,;TROVE2,missense_variant,p.Phe361Cys,ENST00000367441,;TROVE2,missense_variant,p.Phe361Cys,ENST00000367446,;TROVE2,missense_variant,p.Phe361Cys,ENST00000367443,;TROVE2,missense_variant,p.Phe361Cys,ENST00000367445,;TROVE2,downstream_gene_variant,,ENST00000415442,;TROVE2,downstream_gene_variant,,ENST00000512587,;TROVE2,non_coding_transcript_exon_variant,,ENST00000460715,;	1292	79	137	SUCCESS
USH2A	7399	.	GRCh37	1	216073535	216073535	+	synonymous_variant	Silent	SNP	C	C	T	rs777803742	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	56	0	ENST00000307340.3:c.7476G>A	p.Ser2492=	p.S2492=	ENST00000307340	NM_206933.2	2492	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS31025.1	7476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAACGATGC	NONE	byFrequency	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	40/72	.	.	.	.	.	.	.	.	rs777803742	40/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;RP5-1111A8.3,intron_variant,,ENST00000414995,;	7863	56	84	SUCCESS
WDR64	128025	.	GRCh37	1	241946598	241946598	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764415019	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	12	87	0	ENST00000366552.2:c.2590C>T	p.Arg864Cys	p.R864C	ENST00000366552	NM_144625.4	864	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	2590	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGTGCT	BUFFER|p.R417H|c.1250G>A|3,BUFFER|p.R864H|c.2591G>A|3	byFrequency	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000355510	.	22/27	.	.	.	.	.	.	.	.	rs764415019	22/27	PASS	ENST00000366552	Transcript	.	.	ENSG00000162843	26570	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,missense_variant,p.Arg697Cys,ENST00000437684,;WDR64,missense_variant,p.Arg864Cys,ENST00000366552,;WDR64,missense_variant,p.Arg468Cys,ENST00000414635,;WDR64,missense_variant,p.Arg343Cys,ENST00000425826,;WDR64,missense_variant,p.Arg423Cys,ENST00000472717,;WDR64,3_prime_UTR_variant,,ENST00000468967,;WDR64,intron_variant,,ENST00000478331,;	2797	87	117	SUCCESS
EXO1	9156	.	GRCh37	1	242024779	242024779	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1184553142	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	56	0	ENST00000348581.5:c.1016A>G	p.Asp339Gly	p.D339G	ENST00000348581	NM_003686.4	339	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1620.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCGATGACT	NONE	.	.	hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081,Superfamily_domains:SSF47807	.	.	ENSP00000355506	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Asp339Gly,ENST00000348581,;EXO1,missense_variant,p.Asp339Gly,ENST00000518483,;EXO1,missense_variant,p.Asp339Gly,ENST00000366548,;EXO1,downstream_gene_variant,,ENST00000437497,;EXO1,downstream_gene_variant,,ENST00000423131,;EXO1,downstream_gene_variant,,ENST00000493702,;EXO1,downstream_gene_variant,,ENST00000469419,;	1609	56	79	SUCCESS
MED18	54797	.	GRCh37	1	28657195	28657195	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	99	143	0	ENST00000373842.4:c.22A>G	p.Met8Val	p.M8V	ENST00000373842	NM_017638.2	8	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS322.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCATGATG	NONE	.	.	hmmpanther:PTHR13321:SF2,hmmpanther:PTHR13321	.	.	ENSP00000362948	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000373842	Transcript	.	.	ENSG00000130772	25944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	MED18_HUMAN	MED18	HGNC	B4DJL3_HUMAN	.	UPI000006F340	SNV	MED18,missense_variant,p.Met8Val,ENST00000398997,;MED18,missense_variant,p.Met8Val,ENST00000373842,;MED18,non_coding_transcript_exon_variant,,ENST00000475655,;MED18,non_coding_transcript_exon_variant,,ENST00000479574,;MED18,non_coding_transcript_exon_variant,,ENST00000474683,;	231	143	120	SUCCESS
HIVEP3	59269	.	GRCh37	1	42048714	42048714	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	61	106	0	ENST00000247584.5:c.1755G>C	p.Arg585=	p.R585=	ENST00000247584		585	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS463.1	1755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCCGGGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,synonymous_variant,p.%3D,ENST00000429157,;HIVEP3,synonymous_variant,p.%3D,ENST00000372584,;HIVEP3,synonymous_variant,p.%3D,ENST00000247584,;HIVEP3,synonymous_variant,p.%3D,ENST00000372583,;HIVEP3,upstream_gene_variant,,ENST00000460604,;	2641	106	81	SUCCESS
WDR78	0	.	GRCh37	1	67303300	67303300	+	intron_variant	Intron	SNP	T	T	A	rs746976010	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	29	28	0	ENST00000371026.3:c.1581+93A>T		p.*527*	ENST00000371026	NM_024763.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTAGACT	NONE	byFrequency	.	.	.	.	ENSP00000360065	.	.	.	.	.	.	.	.	.	.	rs746976010	.	PASS	ENST00000371026	Transcript	.	.	ENSG00000152763	26252	.	.	MODIFIER	10/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR78_HUMAN	WDR78	HGNC	.	.	UPI00004561EF	SNV	WDR78,3_prime_UTR_variant,,ENST00000371023,;WDR78,3_prime_UTR_variant,,ENST00000531552,;WDR78,intron_variant,,ENST00000431318,;WDR78,intron_variant,,ENST00000371026,;WDR78,intron_variant,,ENST00000464352,;WDR78,intron_variant,,ENST00000491297,;	.	28	35	SUCCESS
SLC44A5	204962	.	GRCh37	1	75683603	75683603	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	63	112	0	ENST00000370855.5:c.1572A>C	p.Ala524=	p.A524=	ENST00000370855	NM_152697.4	524	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS667.1	1572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAATGCAAT	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385,Pfam_domain:PF04515	.	.	ENSP00000359892	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,synonymous_variant,p.%3D,ENST00000535611,;SLC44A5,synonymous_variant,p.%3D,ENST00000370855,;SLC44A5,synonymous_variant,p.%3D,ENST00000370859,;	1686	112	90	SUCCESS
SLC44A5	204962	.	GRCh37	1	75683604	75683604	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	62	111	0	ENST00000370855.5:c.1571C>A	p.Ala524Glu	p.A524E	ENST00000370855	NM_152697.4	524	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS667.1	1571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATGCAATA	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385,Pfam_domain:PF04515	.	.	ENSP00000359892	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,missense_variant,p.Ala394Glu,ENST00000535611,;SLC44A5,missense_variant,p.Ala524Glu,ENST00000370855,;SLC44A5,missense_variant,p.Ala524Glu,ENST00000370859,;	1685	112	88	SUCCESS
RRBP1	6238	.	GRCh37	20	17639516	17639516	+	intron_variant	Intron	SNP	T	T	A	rs760368495	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	133	200	0	ENST00000377807.2:c.529-182A>T		p.*177*	ENST00000377807	NM_001042576.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13128.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGGATG	NONE	.	.	.	.	.	ENSP00000367038	.	.	.	.	.	.	.	.	.	.	rs760368495	.	PASS	ENST00000377807	Transcript	.	.	ENSG00000125844	10448	.	.	MODIFIER	3/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRBP1_HUMAN	RRBP1	HGNC	F8W7S5_HUMAN	.	UPI000002B2C0	SNV	RRBP1,missense_variant,p.Gln546Leu,ENST00000246043,;RRBP1,missense_variant,p.Gln546Leu,ENST00000377813,;RRBP1,intron_variant,,ENST00000360807,;RRBP1,intron_variant,,ENST00000455029,;RRBP1,intron_variant,,ENST00000377807,;RRBP1,downstream_gene_variant,,ENST00000398782,;RRBP1,missense_variant,p.Gln21Leu,ENST00000495501,;	.	200	282	SUCCESS
NINL	22981	.	GRCh37	20	25450673	25450673	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs758364682	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	7	137	0	ENST00000278886.6:c.3307G>C	p.Val1103Leu	p.V1103L	ENST00000278886	NM_025176.4	1103	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS33452.1	3307	MUTECT|MUSE	.	CCGAACCCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12	.	.	ENSP00000278886	.	18/24	.	.	.	.	.	.	.	.	rs758364682	18/24	PASS	ENST00000278886	Transcript	.	.	ENSG00000101004	29163	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.22)	.	NINL_HUMAN	NINL	HGNC	.	.	UPI0000206B64	SNV	NINL,missense_variant,p.Val56Leu,ENST00000336104,;NINL,missense_variant,p.Val754Leu,ENST00000422516,;NINL,missense_variant,p.Val1103Leu,ENST00000278886,;	3381	137	185	SUCCESS
CBFA2T2	9139	.	GRCh37	20	32207387	32207387	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	105	0	ENST00000346541.3:c.512G>T	p.Arg171Leu	p.R171L	ENST00000346541	NM_005093.3	171	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS13221.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGTCCTT	NONE	.	.	Prints_domain:PR01875,Superfamily_domains:SSF158553,SMART_domains:SM00549,Pfam_domain:PF07531,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13,PROSITE_profiles:PS51119	.	.	ENSP00000262653	.	5/12	.	.	.	.	.	.	.	.	COSM1681622,COSM1681623	5/12	PASS	ENST00000346541	Transcript	.	.	ENSG00000078699	1536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	MTG8R_HUMAN	CBFA2T2	HGNC	Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN	.	UPI0000073E07	SNV	CBFA2T2,missense_variant,p.Arg142Leu,ENST00000397798,;CBFA2T2,missense_variant,p.Arg171Leu,ENST00000375279,;CBFA2T2,missense_variant,p.Arg171Leu,ENST00000346541,;CBFA2T2,missense_variant,p.Arg162Leu,ENST00000342704,;CBFA2T2,missense_variant,p.Arg142Leu,ENST00000492345,;CBFA2T2,missense_variant,p.Arg142Leu,ENST00000344201,;CBFA2T2,missense_variant,p.Arg142Leu,ENST00000397800,;CBFA2T2,missense_variant,p.Arg181Leu,ENST00000359606,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000491618,;CBFA2T2,downstream_gene_variant,,ENST00000471007,;	1049	105	123	SUCCESS
KCNS1	3787	.	GRCh37	20	43727336	43727336	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	39	0	ENST00000306117.1:c.77G>A	p.Gly26Glu	p.G26E	ENST00000306117	NM_002251.3	26	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS13342.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCCTGCG	NONE	.	.	.	.	.	ENSP00000307694	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000306117	Transcript	.	.	ENSG00000124134	6300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.88)	.	KCNS1_HUMAN	KCNS1	HGNC	A2RUL8_HUMAN	.	UPI000012DCD1	SNV	KCNS1,missense_variant,p.Gly26Glu,ENST00000537075,;KCNS1,missense_variant,p.Gly26Glu,ENST00000306117,;	474	39	44	SUCCESS
TP53TG5	27296	.	GRCh37	20	44003518	44003518	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	16	0	ENST00000372726.3:c.768+161T>C		p.*256*	ENST00000372726	NM_014477.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13352.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTAAGGCT	NONE	.	.	.	.	.	ENSP00000361811	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372726	Transcript	.	.	ENSG00000124251	15856	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T53G5_HUMAN	TP53TG5	HGNC	G5EA57_HUMAN,B4DHX6_HUMAN	.	UPI000000165C	SNV	SYS1,3_prime_UTR_variant,,ENST00000426004,;TP53TG5,intron_variant,,ENST00000372726,;TP53TG5,intron_variant,,ENST00000537995,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;TP53TG5,downstream_gene_variant,,ENST00000488588,;TP53TG5,downstream_gene_variant,,ENST00000494455,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;	.	16	21	SUCCESS
KCNG1	3755	.	GRCh37	20	49621256	49621256	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1009163679	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	95	171	0	ENST00000371571.4:c.862A>G	p.Ile288Val	p.I288V	ENST00000371571	NM_002237.3	288	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13436.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAATGAGCC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF88,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000360626	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371571	Transcript	.	.	ENSG00000026559	6248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.63)	.	KCNG1_HUMAN	KCNG1	HGNC	Q5JXL4_HUMAN,A2A2I9_HUMAN,A2A2I8_HUMAN	.	UPI000012DC99	SNV	KCNG1,missense_variant,p.Ile288Val,ENST00000371571,;KCNG1,downstream_gene_variant,,ENST00000439216,;KCNG1,downstream_gene_variant,,ENST00000396017,;RP5-955M13.4,intron_variant,,ENST00000424566,;KCNG1,non_coding_transcript_exon_variant,,ENST00000506387,;	1148	171	218	SUCCESS
BCAS1	8537	.	GRCh37	20	52645509	52645509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs146806249	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	32	0	ENST00000395961.3:c.145G>A	p.Asp49Asn	p.D49N	ENST00000395961	NM_003657.2	49	Gac/Aac	0	T:0.0002	.	.	.	.	T	D/N	protein_coding	YES	CCDS13444.1	145	RADIA|MUTECT|MUSE	.	CAAGTCGACTG	NONE	.	.	hmmpanther:PTHR15016	.	T:0	ENSP00000379290	.	4/12	.	.	.	.	.	.	.	.	rs146806249	4/12	PASS	ENST00000395961	Transcript	.	.	ENSG00000064787	974	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.975)	.	deleterious(0.05)	.	BCAS1_HUMAN	BCAS1	HGNC	.	.	UPI000013D2E2	SNV	BCAS1,missense_variant,p.Asp49Asn,ENST00000395961,;BCAS1,missense_variant,p.Asp49Asn,ENST00000371435,;BCAS1,missense_variant,p.Asp49Asn,ENST00000371440,;BCAS1,splice_region_variant,,ENST00000411563,;BCAS1,upstream_gene_variant,,ENST00000448484,;	312	32	34	SUCCESS
FAM217B	63939	.	GRCh37	20	58519115	58519115	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	57	123	0	ENST00000358293.3:c.117T>A	p.Ala39=	p.A39=	ENST00000358293	NM_001190826.1	39	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13484.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGTCAC	NONE	.	.	hmmpanther:PTHR22145:SF3,hmmpanther:PTHR22145	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,synonymous_variant,p.%3D,ENST00000421092,;FAM217B,synonymous_variant,p.%3D,ENST00000358293,;FAM217B,synonymous_variant,p.%3D,ENST00000360816,;PPP1R3D,upstream_gene_variant,,ENST00000370996,;FAM217B,intron_variant,,ENST00000469084,;	532	123	173	SUCCESS
COL9A3	1299	.	GRCh37	20	61467861	61467861	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	89	0	ENST00000343916.3:c.1580A>T	p.Glu527Val	p.E527V	ENST00000343916	NM_001853.3	527	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13505.1	1580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGAGCTGT	NONE	.	.	hmmpanther:PTHR24023:SF364,hmmpanther:PTHR24023	.	.	ENSP00000341640	.	29/32	.	.	.	.	.	.	.	.	COSM4100164	29/32	PASS	ENST00000343916	Transcript	1	.	ENSG00000092758	2219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	CO9A3_HUMAN	COL9A3	HGNC	Q96IF4_HUMAN	.	UPI0000126D51	SNV	COL9A3,missense_variant,p.Glu527Val,ENST00000343916,;TCFL5,downstream_gene_variant,,ENST00000335351,;COL9A3,non_coding_transcript_exon_variant,,ENST00000467819,;COL9A3,intron_variant,,ENST00000462700,;COL9A3,upstream_gene_variant,,ENST00000466532,;COL9A3,non_coding_transcript_exon_variant,,ENST00000472880,;COL9A3,non_coding_transcript_exon_variant,,ENST00000466192,;COL9A3,non_coding_transcript_exon_variant,,ENST00000469802,;COL9A3,downstream_gene_variant,,ENST00000481800,;COL9A3,downstream_gene_variant,,ENST00000469852,;COL9A3,downstream_gene_variant,,ENST00000490398,;	1583	89	71	SUCCESS
TCP10L	140290	.	GRCh37	21	33954534	33954534	+	synonymous_variant	Silent	SNP	G	G	A	rs531845693	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	99	287	0	ENST00000300258.3:c.336C>T	p.His112=	p.H112=	ENST00000300258	NM_144659.5	112	caC/caT	0	.	A:0	.	A:0	.	A	H	protein_coding	YES	.	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCGTGTGG	NONE	by1000G	.	.	A:0.001	.	ENSP00000446874	A:0	6/7	.	.	.	.	.	.	.	.	rs531845693,COSM4101241	6/7	PASS	ENST00000553001	Transcript	.	A:0.0002	ENSG00000265590	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	.	AP000275.65	Clone_based_vega_gene	F8VZ95_HUMAN	.	UPI0000E5A3A4	SNV	AP000275.65,synonymous_variant,p.%3D,ENST00000553001,;AP000275.65,synonymous_variant,p.%3D,ENST00000431216,;TCP10L,synonymous_variant,p.%3D,ENST00000582575,;TCP10L,synonymous_variant,p.%3D,ENST00000472557,;TCP10L,synonymous_variant,p.%3D,ENST00000300258,;TCP10L,synonymous_variant,p.%3D,ENST00000491828,;	896	287	217	SUCCESS
SIK1	150094	.	GRCh37	21	44838314	44838314	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	33	47	0	ENST00000270162.6:c.1570C>T	p.Pro524Ser	p.P524S	ENST00000270162	NM_173354.3	524	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33575.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGGGGTGC	NONE	.	.	PIRSF_domain:PIRSF037014,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0	.	.	ENSP00000270162	.	12/14	.	.	.	.	.	.	.	.	COSM3551254	12/14	PASS	ENST00000270162	Transcript	.	.	ENSG00000142178	11142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.091)	.	tolerated(0.4)	1	SIK1_HUMAN	SIK1	HGNC	.	.	UPI0000206F2B	SNV	SIK1,missense_variant,p.Pro524Ser,ENST00000270162,;SIK1,downstream_gene_variant,,ENST00000478426,;	1703	47	47	SUCCESS
RIMBP3	85376	.	GRCh37	22	20458548	20458548	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	539	33	924	0	ENST00000426804.1:c.2754C>G	p.Leu918=	p.L918=	ENST00000426804	NM_015672.1	918	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS46665.1	2754	MUTECT|MUSE	.	GCTGGGAGTTG	NONE	.	.	hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,synonymous_variant,p.%3D,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3239	924	573	SUCCESS
IGLV7-46	28775	.	GRCh37	22	22724444	22724444	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs555164835	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	48	0	ENST00000390295.2:c.340A>T	p.Ser114Cys	p.S114C	ENST00000390295		114	Agt/Tgt	0	.	G:0.0008	.	G:0	.	T	S/C	IG_V_gene	YES	.	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATAGTGGT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF120,SMART_domains:SM00409,Superfamily_domains:SSF48726	G:0	.	ENSP00000374830	G:0.001	2/2	.	.	.	.	.	.	.	.	rs555164835	2/2	PASS	ENST00000390295	Transcript	.	G:0.0004	ENSG00000211649	5930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	.	IGLV7-46	HGNC	Q5NV83_HUMAN	.	UPI0000F30335	SNV	IGLV7-46,missense_variant,p.Ser114Cys,ENST00000390295,;LL22NC03-22A12.12,upstream_gene_variant,,ENST00000443400,;LL22NC03-22A12.9,downstream_gene_variant,,ENST00000453999,;	374	48	31	SUCCESS
DRG1	4733	.	GRCh37	22	31799026	31799026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	11	364	0	ENST00000331457.4:c.178G>T	p.Ala60Ser	p.A60S	ENST00000331457	NM_004147.3	60	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS13897.1	178	MUTECT|MUSE	.	ATGTGGCCAAG	NONE	.	.	hmmpanther:PTHR11702	.	.	ENSP00000329715	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000331457	Transcript	.	.	ENSG00000185721	3029	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.45)	.	DRG1_HUMAN	DRG1	HGNC	Q9UFA5_HUMAN	.	UPI0000129879	SNV	DRG1,missense_variant,p.Ala60Ser,ENST00000331457,;DRG1,non_coding_transcript_exon_variant,,ENST00000433341,;DRG1,non_coding_transcript_exon_variant,,ENST00000486584,;DRG1,intron_variant,,ENST00000416465,;	339	364	249	SUCCESS
PHF5A	84844	.	GRCh37	22	41863491	41863491	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	91	156	0	ENST00000216252.3:c.204T>C	p.Asp68=	p.D68=	ENST00000216252	NM_032758.3	68	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS14016.1	204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCATCAGA	NONE	.	.	hmmpanther:PTHR13120,Pfam_domain:PF03660,PIRSF_domain:PIRSF016468	.	.	ENSP00000216252	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000216252	Transcript	.	.	ENSG00000100410	18000	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF5A_HUMAN	PHF5A	HGNC	.	.	UPI000000110B	SNV	PHF5A,synonymous_variant,p.%3D,ENST00000216252,;ACO2,upstream_gene_variant,,ENST00000216254,;ACO2,upstream_gene_variant,,ENST00000396512,;PHF5A,non_coding_transcript_exon_variant,,ENST00000491254,;ACO2,upstream_gene_variant,,ENST00000471094,;PHF5A,non_coding_transcript_exon_variant,,ENST00000459687,;	276	156	128	SUCCESS
CCDC134	79879	.	GRCh37	22	42209427	42209427	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	115	166	0	ENST00000255784.5:c.470C>T	p.Pro157Leu	p.P157L	ENST00000255784	NM_024821.2	157	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS33654.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCCCACT	NONE	.	.	Pfam_domain:PF15002,hmmpanther:PTHR14735	.	.	ENSP00000255784	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000255784	Transcript	.	.	ENSG00000100147	26185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.05)	.	CC134_HUMAN	CCDC134	HGNC	.	.	UPI000007311E	SNV	CCDC134,missense_variant,p.Pro157Leu,ENST00000255784,;CCDC134,intron_variant,,ENST00000402061,;	574	166	146	SUCCESS
TBC1D8	11138	.	GRCh37	2	101670763	101670763	+	synonymous_variant	Silent	SNP	G	G	A	rs753489134	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	58	0	ENST00000376840.4:c.393C>T	p.Ala131=	p.A131=	ENST00000376840		131	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46375.1	393	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGGCGAG	NONE	.	.	.	.	.	ENSP00000366036	.	4/20	.	.	.	.	.	.	.	.	rs753489134	4/20	PASS	ENST00000376840	Transcript	.	.	ENSG00000204634	17791	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBCD8_HUMAN	TBC1D8	HGNC	.	.	UPI00015ADD19	SNV	TBC1D8,synonymous_variant,p.%3D,ENST00000376840,;TBC1D8,synonymous_variant,p.%3D,ENST00000409318,;	393	58	77	SUCCESS
CCDC74A	90557	.	GRCh37	2	132287416	132287416	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	26	183	0	ENST00000295171.6:c.295+152T>A		p.*99*	ENST00000295171	NM_138770.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2167.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTAGCCG	NONE	.	.	.	.	.	ENSP00000295171	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295171	Transcript	.	.	ENSG00000163040	25197	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC74A_HUMAN	CCDC74A	HGNC	.	.	UPI000006E43A	SNV	CCDC74A,5_prime_UTR_variant,,ENST00000467992,;CCDC74A,intron_variant,,ENST00000295171,;CCDC74A,intron_variant,,ENST00000409856,;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,non_coding_transcript_exon_variant,,ENST00000465939,;CCDC74A,intron_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000468650,;	.	183	153	SUCCESS
CXCR4	7852	.	GRCh37	2	136872834	136872834	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs374458307	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	79	120	0	ENST00000241393.3:c.664A>T	p.Ile222Phe	p.I222F	ENST00000241393	NM_003467.2	222	Atc/Ttc	0	C:0.0002	.	.	.	.	A	I/F	protein_coding	YES	CCDS33295.1	676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGATAATGC	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF7,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	C:0	ENSP00000386884	.	1/1	.	.	.	.	.	.	.	.	rs374458307	1/1	PASS	ENST00000409817	Transcript	.	.	ENSG00000121966	2561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CXCR4_HUMAN	CXCR4	HGNC	Q5MIL4_HUMAN	.	UPI000002A5E3	SNV	CXCR4,missense_variant,p.Ile222Phe,ENST00000241393,;CXCR4,missense_variant,p.Ile226Phe,ENST00000409817,;CXCR4,non_coding_transcript_exon_variant,,ENST00000466288,;	980	120	117	SUCCESS
NEB	4703	.	GRCh37	2	152418677	152418677	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs775521626	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	70	0	ENST00000172853.10:c.13840T>G	p.Trp4614Gly	p.W4614G	ENST00000172853		4614	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS54407.1	18943	MUTECT|MUSE	.	ATCCCAAACGT	NONE	.	.	hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	121/182	.	.	.	.	.	.	.	.	rs775521626	121/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Trp6315Gly,ENST00000603639,;NEB,missense_variant,p.Trp4614Gly,ENST00000172853,;NEB,missense_variant,p.Trp6315Gly,ENST00000427231,;NEB,missense_variant,p.Trp6315Gly,ENST00000397345,;NEB,missense_variant,p.Trp6315Gly,ENST00000604864,;NEB,missense_variant,p.Trp1045Gly,ENST00000413693,;NEB,missense_variant,p.Trp4614Gly,ENST00000409198,;	19146	70	79	SUCCESS
SLC25A12	8604	.	GRCh37	2	172700890	172700890	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	44	73	0	ENST00000422440.2:c.454C>T	p.Gln152Ter	p.Q152*	ENST00000422440	NM_003705.4	152	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS33327.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTGCGTGA	NONE	.	.	Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000388658	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,stop_gained,p.Gln152Ter,ENST00000422440,;SLC25A12,stop_gained,p.Gln45Ter,ENST00000392592,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000472748,;SLC25A12,synonymous_variant,p.%3D,ENST00000426896,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,3_prime_UTR_variant,,ENST00000475360,;	492	73	69	SUCCESS
PTH2R	5746	.	GRCh37	2	209271708	209271708	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	86	0	ENST00000272847.2:c.-61T>A		p.*21*	ENST00000272847	NM_005048.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2383.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTTGGAA	NONE	.	.	.	.	.	ENSP00000272847	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000272847	Transcript	.	.	ENSG00000144407	9609	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTH2R_HUMAN	PTH2R	HGNC	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN	.	UPI000005041E	SNV	PTH2R,5_prime_UTR_variant,,ENST00000272847,;PTH2R,intron_variant,,ENST00000413482,;	153	86	71	SUCCESS
PTH2R	5746	.	GRCh37	2	209345847	209345847	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs151296979	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	140	202	0	ENST00000272847.2:c.1036del	p.Glu346ArgfsTer25	p.E346Rfs*25	ENST00000272847	NM_005048.3	345	tGg/tg	0	T:0	T:0	.	T:0	.	-	W/X	protein_coding	YES	CCDS2383.1	1034	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATCTGGGAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	T:0	T:0.0002	ENSP00000272847	T:0.001	10/13	.	.	.	.	.	.	.	.	rs151296979,COSM573072	10/13	PASS	ENST00000272847	Transcript	.	T:0.0002	ENSG00000144407	9609	2	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0	.	0,1	PTH2R_HUMAN	PTH2R	HGNC	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN	.	UPI000005041E	deletion	PTH2R,frameshift_variant,p.Glu346ArgfsTer25,ENST00000272847,;AC019185.4,intron_variant,,ENST00000424628,;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;	1247	202	382	SUCCESS
APOB	338	.	GRCh37	2	21228347	21228347	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	27	124	0	ENST00000233242.1:c.11393C>G	p.Thr3798Arg	p.T3798R	ENST00000233242	NM_000384.2	3798	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS1703.1	11393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGTTAAC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Thr3798Arg,ENST00000233242,;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	11521	124	131	SUCCESS
C2orf62	0	.	GRCh37	2	219225314	219225314	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs751700559	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	30	34	0	ENST00000289388.3:c.394G>T	p.Glu132Ter	p.E132*	ENST00000289388	NM_198559.1	132	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS2414.1	394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGAACGG	NONE	.	.	hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2	.	.	ENSP00000289388	.	5/10	.	.	.	.	.	.	.	.	rs751700559	5/10	PASS	ENST00000289388	Transcript	.	.	ENSG00000158428	25062	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB062_HUMAN	C2orf62	HGNC	.	.	UPI000019B2D3	SNV	C2orf62,stop_gained,p.Glu132Ter,ENST00000289388,;AC021016.8,upstream_gene_variant,,ENST00000411433,;C2orf62,non_coding_transcript_exon_variant,,ENST00000481940,;C2orf62,non_coding_transcript_exon_variant,,ENST00000495773,;C2orf62,upstream_gene_variant,,ENST00000494447,;C2orf62,downstream_gene_variant,,ENST00000480532,;	423	34	46	SUCCESS
EPHA4	2043	.	GRCh37	2	222365784	222365784	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375924623	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	56	0	ENST00000281821.2:c.932G>A	p.Arg311Gln	p.R311Q	ENST00000281821	NM_004438.3	311	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS2447.1	932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCGGTCA	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416	.	T:0.0001	ENSP00000281821	.	4/18	.	.	.	.	.	.	.	.	rs375924623,COSM1205456,COSM1205457	4/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.028)	.	tolerated(0.24)	0,1,1	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Arg311Gln,ENST00000281821,;EPHA4,missense_variant,p.Arg48Gln,ENST00000441679,;EPHA4,missense_variant,p.Arg311Gln,ENST00000409854,;EPHA4,missense_variant,p.Arg260Gln,ENST00000392071,;EPHA4,missense_variant,p.Arg311Gln,ENST00000409938,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	974	56	50	SUCCESS
TRIP12	9320	.	GRCh37	2	230672989	230672989	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	39	0	ENST00000283943.5:c.2174A>T	p.Tyr725Phe	p.Y725F	ENST00000283943	NM_004238.1	725	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS33391.1	2174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATACAAC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	15/41	.	.	.	.	.	.	.	.	.	15/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.298)	.	tolerated(0.15)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Tyr725Phe,ENST00000283943,;TRIP12,missense_variant,p.Tyr428Phe,ENST00000389045,;TRIP12,missense_variant,p.Tyr773Phe,ENST00000389044,;TRIP12,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;TRIP12,upstream_gene_variant,,ENST00000487178,;TRIP12,downstream_gene_variant,,ENST00000477441,;	2353	39	25	SUCCESS
FBXO36	130888	.	GRCh37	2	230787284	230787284	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	37	206	0	ENST00000283946.3:c.55C>G	p.Pro19Ala	p.P19A	ENST00000283946	NM_174899.4	19	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS2472.1	55	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGCCTAGC	NONE	.	.	.	.	.	ENSP00000283946	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000283946	Transcript	.	.	ENSG00000153832	27020	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.922)	.	deleterious(0.03)	.	FBX36_HUMAN	FBXO36	HGNC	.	.	UPI0000209731	SNV	FBXO36,missense_variant,p.Pro19Ala,ENST00000283946,;FBXO36,missense_variant,p.Pro19Ala,ENST00000409992,;FBXO36,5_prime_UTR_variant,,ENST00000373652,;TRIP12,intron_variant,,ENST00000435716,;TRIP12,upstream_gene_variant,,ENST00000389045,;TRIP12,upstream_gene_variant,,ENST00000543084,;TRIP12,upstream_gene_variant,,ENST00000343290,;TRIP12,upstream_gene_variant,,ENST00000409677,;TRIP12,upstream_gene_variant,,ENST00000389044,;TRIP12,upstream_gene_variant,,ENST00000283943,;TRIP12,upstream_gene_variant,,ENST00000428959,;TRIP12,upstream_gene_variant,,ENST00000430954,;FBXO36,non_coding_transcript_exon_variant,,ENST00000465090,;TRIP12,upstream_gene_variant,,ENST00000479037,;	73	206	176	SUCCESS
PSMD1	5707	.	GRCh37	2	231937074	231937074	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	16	94	0	ENST00000308696.6:c.826G>T	p.Ala276Ser	p.A276S	ENST00000308696	NM_002807.3	276	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS2482.1	826	RADIA|MUTECT|MUSE|VARSCANS	.	CTATTGCTTCT	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947	.	.	ENSP00000309474	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.53)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Ala128Ser,ENST00000444007,;PSMD1,missense_variant,p.Ala276Ser,ENST00000409643,;PSMD1,missense_variant,p.Ala276Ser,ENST00000373635,;PSMD1,missense_variant,p.Ala276Ser,ENST00000308696,;PSMD1,downstream_gene_variant,,ENST00000440838,;PSMD1,3_prime_UTR_variant,,ENST00000431051,;	988	94	102	SUCCESS
CRIM1	51232	.	GRCh37	2	36691797	36691797	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	78	268	0	ENST00000280527.2:c.990T>C		p.X330_splice	ENST00000280527	NM_016441.2	330	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS1783.1	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAATGGTAC	NONE	.	.	Superfamily_domains:SSF57603	.	.	ENSP00000280527	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000280527	Transcript	.	.	ENSG00000150938	2359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIM1_HUMAN	CRIM1	HGNC	Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN	.	UPI000004C628	SNV	CRIM1,synonymous_variant,p.%3D,ENST00000280527,;CRIM1,synonymous_variant,p.%3D,ENST00000426856,;	1357	268	255	SUCCESS
ARHGEF33	100271715	.	GRCh37	2	39164550	39164550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	12	122	0	ENST00000409978.1:c.640C>T	p.His214Tyr	p.H214Y	ENST00000409978		214	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS46263.2	640	MUTECT|MUSE|VARSCANS	.	AGGGCCATCTC	NONE	.	.	hmmpanther:PTHR12673:SF16,hmmpanther:PTHR12673	.	.	ENSP00000387020	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000409978	Transcript	.	.	ENSG00000214694	37252	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.22)	.	ARG33_HUMAN	ARHGEF33	HGNC	.	.	UPI000188157A	SNV	ARHGEF33,missense_variant,p.His214Tyr,ENST00000536934,;ARHGEF33,missense_variant,p.His214Tyr,ENST00000409978,;ARHGEF33,missense_variant,p.His214Tyr,ENST00000398800,;RN7SL96P,upstream_gene_variant,,ENST00000582641,;	905	122	131	SUCCESS
PHLDB2	90102	.	GRCh37	3	111603108	111603109	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	100	59	100	0	ENST00000393925.3:c.184_185delinsG	p.Leu62AlafsTer24	p.L62Afs*24	ENST00000393925	NM_001134439.1	62	CTc/Gc	0	.	.	.	.	.	G	L/X	protein_coding	YES	CCDS46886.1	184-185	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTAACCCTCTCAC	NONE	.	.	hmmpanther:PTHR12156:SF17,hmmpanther:PTHR12156	.	.	ENSP00000405405	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000431670	Transcript	.	.	ENSG00000144824	29573	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHLB2_HUMAN	PHLDB2	HGNC	Q8NEI7_HUMAN,Q659D2_HUMAN	.	UPI0000457152	substitution	PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000477695,;PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000478922,;PHLDB2,frameshift_variant,p.Leu89AlafsTer24,ENST00000393923,;PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000412622,;PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000481953,;PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000498699,;PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000431670,;PHLDB2,frameshift_variant,p.Leu62AlafsTer24,ENST00000393925,;	595-596	100	159	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111794166	111794166	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	5	102	0	ENST00000452346.2:c.1784-2A>G		p.X595_splice	ENST00000452346		595		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43129.2	.	MUTECT|MUSE	.	ACCAAAGCCTG	NONE	.	.	.	.	.	ENSP00000411645	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	HIGH	12/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,splice_acceptor_variant,,ENST00000452346,;TMPRSS7,splice_acceptor_variant,,ENST00000419127,;TMPRSS7,splice_acceptor_variant,,ENST00000435737,;	.	102	100	SUCCESS
GRIP2	80852	.	GRCh37	3	14555217	14555217	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs751314346	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	35	112	0	ENST00000273083.3:n.1660C>A		p.*554*	ENST00000273083				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGCGGCG	NONE	.	.	.	.	.	.	.	13/24	.	.	.	.	.	.	.	.	rs751314346	13/24	PASS	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;GRIP2,upstream_gene_variant,,ENST00000430219,;	1660	112	125	SUCCESS
CP	1356	.	GRCh37	3	148927024	148927024	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	107	237	0	ENST00000264613.6:c.755A>T	p.Asp252Val	p.D252V	ENST00000264613	NM_000096.3	252	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3141.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTCTTCG	BUFFER|p.E251K|c.751G>A|7	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Gene3D:2.60.40.420,Pfam_domain:PF00394,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(0.16)	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,missense_variant,p.Asp252Val,ENST00000264613,;CP,missense_variant,p.Asp35Val,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Asp252Val,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,upstream_gene_variant,,ENST00000489736,;	1018	237	216	SUCCESS
PIK3CA	5290	.	GRCh37	3	178936082	178936082	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913273	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	137	283	0	ENST00000263967.3:c.1624G>A	p.Glu542Lys	p.E542K	ENST00000263967	NM_006218.2	542	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43171.1	1624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TCTCTGAAATC	SITE|p.E542K|c.1624G>A|115,SITE|p.E542K|c.1624G>A|758,BUFFER|p.D538D|c.1614T>C|4,BUFFER|p.D538D|c.1614T>C|4,BUFFER|p.P539S|c.1615C>T|3,BUFFER|p.P539R|c.1616C>G|19,BUFFER|p.P539P|c.1617T>C|7,BUFFER|p.P539P|c.1617T>C|7,BUFFER|p.E542Q|c.1624G>C|8,BUFFER|p.E542G|c.1625A>G|3,BUFFER|p.E542V|c.1625A>T|14,BUFFER|p.E542A|c.1625A>C|3,BUFFER|p.E542V|c.1625A>T|5,BUFFER|p.E542A|c.1625A>C|3,BUFFER|p.I543V|c.1627A>G|3,BUFFER|p.T544N|c.1631C>A|3,BUFFER|p.E545Q|c.1633G>C|30,BUFFER|p.E545K|c.1633G>A|227,BUFFER|p.E545Q|c.1633G>C|9,BUFFER|p.E545K|c.1633G>A|1153,BUFFER|p.E545A|c.1634A>C|130,BUFFER|p.E545V|c.1634A>T|4,BUFFER|p.E545A|c.1634A>C|11,BUFFER|p.E545G|c.1634A>G|14,BUFFER|p.E545G|c.1634A>G|90,BUFFER|p.E545D|c.1635G>T|13,BUFFER|p.E545D|c.1635G>C|11,BUFFER|p.E545D|c.1635G>T|4	.	.	PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	.	.	ENSP00000263967	.	10/21	.	.	.	.	.	.	.	.	rs121913273,COSM760,COSM17442,COSM125369,COSM326157	10/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(0.96)	.	deleterious(0.04)	0,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Glu542Lys,ENST00000263967,;PIK3CA,upstream_gene_variant,,ENST00000462255,;	1781	283	313	SUCCESS
DLG1	1739	.	GRCh37	3	197023346	197023346	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	72	0	ENST00000419354.1:c.22A>T	p.Thr8Ser	p.T8S	ENST00000419354		8	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS3327.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGTATCTG	NONE	.	.	PROSITE_profiles:PS51022,Pfam_domain:PF09058,Gene3D:1.10.287.470,SMART_domains:SM00569,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF101288	.	.	ENSP00000345731	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000346964	Transcript	.	.	ENSG00000075711	2900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	.	deleterious(0.02)	.	DLG1_HUMAN	DLG1	HGNC	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN	.	UPI000013CD24	SNV	DLG1,missense_variant,p.Thr8Ser,ENST00000450955,;DLG1,missense_variant,p.Thr8Ser,ENST00000419553,;DLG1,missense_variant,p.Thr8Ser,ENST00000392382,;DLG1,missense_variant,p.Thr8Ser,ENST00000357674,;DLG1,missense_variant,p.Thr8Ser,ENST00000412364,;DLG1,missense_variant,p.Thr8Ser,ENST00000392380,;DLG1,missense_variant,p.Thr8Ser,ENST00000434148,;DLG1,missense_variant,p.Thr8Ser,ENST00000456699,;DLG1,missense_variant,p.Thr8Ser,ENST00000422288,;DLG1,missense_variant,p.Thr8Ser,ENST00000448528,;DLG1,missense_variant,p.Thr8Ser,ENST00000346964,;DLG1,missense_variant,p.Thr8Ser,ENST00000419354,;DLG1,missense_variant,p.Thr8Ser,ENST00000314062,;DLG1,missense_variant,p.Thr8Ser,ENST00000436682,;MIR4797,upstream_gene_variant,,ENST00000577559,;DLG1-AS1,upstream_gene_variant,,ENST00000414529,;DLG1-AS1,upstream_gene_variant,,ENST00000430666,;DLG1,splice_region_variant,,ENST00000485409,;DLG1,missense_variant,p.Thr8Ser,ENST00000392381,;DLG1,missense_variant,p.Thr8Ser,ENST00000419227,;DLG1,splice_region_variant,,ENST00000471733,;DLG1,splice_region_variant,,ENST00000486877,;	212	72	108	SUCCESS
SCN11A	11280	.	GRCh37	3	38888226	38888226	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	94	200	0	ENST00000302328.3:c.5335T>A	p.Ser1779Thr	p.S1779T	ENST00000302328	NM_014139.2	1779	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS33737.1	5335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGACAAGT	NONE	.	.	.	.	.	ENSP00000307599	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated_low_confidence(0.19)	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,missense_variant,p.Ser1779Thr,ENST00000450244,;SCN11A,missense_variant,p.Ser1779Thr,ENST00000302328,;SCN11A,missense_variant,p.Ser1741Thr,ENST00000456224,;SCN11A,downstream_gene_variant,,ENST00000444237,;	5534	200	179	SUCCESS
ARIH2	10425	.	GRCh37	3	49006060	49006060	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	18	153	0	ENST00000356401.4:c.632G>C	p.Arg211Thr	p.R211T	ENST00000356401	NM_006321.2	211	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS2780.1	632	RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGGCGCT	NONE	.	.	hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF117,Gene3D:3.30.40.10,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850,Superfamily_domains:SSF57850	.	.	ENSP00000348769	.	7/16	.	.	.	.	.	.	.	.	COSM731307	7/16	PASS	ENST00000356401	Transcript	.	.	ENSG00000177479	690	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.258)	.	tolerated(0.12)	1	ARI2_HUMAN	ARIH2	HGNC	Q6IBL8_HUMAN,C9JZ71_HUMAN,C9JCL4_HUMAN,C9JBC5_HUMAN,C9JAU2_HUMAN	.	UPI0000125EDA	SNV	ARIH2,missense_variant,p.Arg211Thr,ENST00000356401,;ARIH2,missense_variant,p.Arg211Thr,ENST00000449376,;ARIH2,downstream_gene_variant,,ENST00000430423,;ARIH2,non_coding_transcript_exon_variant,,ENST00000483333,;ARIH2,non_coding_transcript_exon_variant,,ENST00000465217,;ARIH2,non_coding_transcript_exon_variant,,ENST00000474936,;ARIH2,non_coding_transcript_exon_variant,,ENST00000490095,;ARIH2,non_coding_transcript_exon_variant,,ENST00000459976,;ARIH2,non_coding_transcript_exon_variant,,ENST00000498314,;ARIH2,intron_variant,,ENST00000495761,;ARIH2,downstream_gene_variant,,ENST00000482427,;ARIH2,downstream_gene_variant,,ENST00000486316,;ARIH2,downstream_gene_variant,,ENST00000484999,;ARIH2,downstream_gene_variant,,ENST00000478224,;ARIH2,downstream_gene_variant,,ENST00000472640,;ARIH2,downstream_gene_variant,,ENST00000488963,;ARIH2,downstream_gene_variant,,ENST00000474618,;ARIH2,3_prime_UTR_variant,,ENST00000452385,;ARIH2,non_coding_transcript_exon_variant,,ENST00000482342,;ARIH2,upstream_gene_variant,,ENST00000469038,;	971	153	131	SUCCESS
UBE2D3	7323	.	GRCh37	4	103722609	103722609	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	162	243	0	ENST00000321805.7:c.304+2T>G		p.X102_splice	ENST00000321805	NM_181887.2	102		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3659.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTACCTTT	NONE	.	.	.	.	.	ENSP00000349722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357194	Transcript	.	.	ENSG00000109332	12476	.	.	HIGH	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2D3_HUMAN	UBE2D3	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN	.	UPI00001B31EA	SNV	UBE2D3,splice_donor_variant,,ENST00000453744,;UBE2D3,splice_donor_variant,,ENST00000502404,;UBE2D3,splice_donor_variant,,ENST00000321805,;UBE2D3,splice_donor_variant,,ENST00000349311,;UBE2D3,splice_donor_variant,,ENST00000505207,;UBE2D3,splice_donor_variant,,ENST00000357194,;UBE2D3,splice_donor_variant,,ENST00000343106,;UBE2D3,splice_donor_variant,,ENST00000338145,;UBE2D3,splice_donor_variant,,ENST00000350435,;UBE2D3,splice_donor_variant,,ENST00000394804,;UBE2D3,splice_donor_variant,,ENST00000394801,;UBE2D3,splice_donor_variant,,ENST00000504211,;UBE2D3,splice_donor_variant,,ENST00000394803,;UBE2D3,splice_donor_variant,,ENST00000507845,;UBE2D3,downstream_gene_variant,,ENST00000508238,;UBE2D3,downstream_gene_variant,,ENST00000502690,;UBE2D3,downstream_gene_variant,,ENST00000508476,;UBE2D3,downstream_gene_variant,,ENST00000508249,;UBE2D3,splice_donor_variant,,ENST00000505307,;UBE2D3,splice_donor_variant,,ENST00000508474,;UBE2D3,splice_donor_variant,,ENST00000503742,;UBE2D3,splice_donor_variant,,ENST00000508635,;UBE2D3,splice_donor_variant,,ENST00000510129,;UBE2D3,splice_donor_variant,,ENST00000505009,;UBE2D3,downstream_gene_variant,,ENST00000503418,;UBE2D3,downstream_gene_variant,,ENST00000510599,;UBE2D3,downstream_gene_variant,,ENST00000508974,;UBE2D3,downstream_gene_variant,,ENST00000508818,;UBE2D3,downstream_gene_variant,,ENST00000502563,;UBE2D3,downstream_gene_variant,,ENST00000514755,;	.	243	215	SUCCESS
SPATA5	166378	.	GRCh37	4	123978434	123978445	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAAGGGGCAGGT	AAAGGGGCAGGT	-	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	AAAGGGGCAGGT	AAAGGGGCAGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	87	43	167	0	ENST00000274008.4:c.2206_2213+4del		p.X736_splice	ENST00000274008	NM_145207.2	736		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3730.1	2204-?	VARSCANI*|PINDEL	.	CAGTTGAAAGGGGCAGGTAAGAA	NONE	.	.	.	.	.	ENSP00000274008	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000274008	Transcript	.	.	ENSG00000145375	18119	2	.	HIGH	13/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPAT5_HUMAN	SPATA5	HGNC	.	.	UPI000013D9E6	deletion	SPATA5,splice_donor_variant,,ENST00000274008,;SPATA5,splice_donor_variant,,ENST00000422835,;	2273-?	167	130	SUCCESS
FBXW7	55294	.	GRCh37	4	153273838	153273838	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	49	0	ENST00000281708.4:c.502-2562T>A		p.*168*	ENST00000281708	NM_033632.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3777.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAAAGGCA	NONE	.	.	.	.	.	ENSP00000281708	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,synonymous_variant,p.%3D,ENST00000263981,;FBXW7,intron_variant,,ENST00000603548,;FBXW7,intron_variant,,ENST00000281708,;FBXW7,intron_variant,,ENST00000603841,;FBXW7,intron_variant,,ENST00000296555,;FBXW7,upstream_gene_variant,,ENST00000393956,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604822,;	.	49	52	SUCCESS
DCHS2	54798	.	GRCh37	4	155243495	155243495	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	43	75	0	ENST00000357232.4:c.2799T>A	p.Val933=	p.V933=	ENST00000357232	NM_017639.3	933	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3785.1	2799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACAACTGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	13/25	.	.	.	.	.	.	.	.	COSM4122899	13/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000357232,;DCHS2,downstream_gene_variant,,ENST00000339452,;	2799	75	100	SUCCESS
TENM3	55714	.	GRCh37	4	183601698	183601698	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs193270446	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	42	112	0	ENST00000511685.1:c.1642G>A	p.Ala548Thr	p.A548T	ENST00000511685		548	Gcc/Acc	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS47165.1	1642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGCCTGT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,SMART_domains:SM00181	A:0.002	.	ENSP00000424226	A:0	10/28	.	.	.	.	.	.	.	.	rs193270446	10/28	PASS	ENST00000511685	Transcript	1	A:0.0004	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.821)	A:0	tolerated(0.19)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Ala548Thr,ENST00000511685,;TENM3,missense_variant,p.Ala548Thr,ENST00000406950,;TENM3,splice_region_variant,,ENST00000502950,;TENM3,non_coding_transcript_exon_variant,,ENST00000507737,;	1765	112	143	SUCCESS
MSANTD1	345222	.	GRCh37	4	3251094	3251094	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747088669	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	57	0	ENST00000438480.2:c.145G>T	p.Ala49Ser	p.A49S	ENST00000438480	NM_001042690.1	49	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47003.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACGCCGAG	BUFFER|p.R52C|c.154C>T|3,BUFFER|p.R52C|c.154C>T|3	byFrequency	.	hmmpanther:PTHR22666,Pfam_domain:PF13837	.	.	ENSP00000411584	.	1/3	.	.	.	.	.	.	.	.	rs747088669	1/3	PASS	ENST00000438480	Transcript	.	.	ENSG00000188981	33741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.26)	.	MSD1_HUMAN	MSANTD1	HGNC	.	.	UPI000036721F	SNV	MSANTD1,missense_variant,p.Ala36Ser,ENST00000507492,;MSANTD1,missense_variant,p.Ala49Ser,ENST00000438480,;MSANTD1,missense_variant,p.Ala49Ser,ENST00000510580,;MSANTD1,missense_variant,p.Ala49Ser,ENST00000505599,;	1892	57	77	SUCCESS
KCTD8	386617	.	GRCh37	4	44177224	44177224	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs780664122	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	49	105	0	ENST00000360029.3:c.1005T>A	p.Asp335Glu	p.D335E	ENST00000360029	NM_198353.2	335	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3467.1	1005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTATCTTC	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	2/2	.	.	.	.	.	.	.	.	rs780664122	2/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,missense_variant,p.Asp71Glu,ENST00000515268,;KCTD8,missense_variant,p.Asp335Glu,ENST00000360029,;	1289	105	105	SUCCESS
TECRL	253017	.	GRCh37	4	65274943	65274943	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	104	0	ENST00000381210.3:c.127G>A	p.Ala43Thr	p.A43T	ENST00000381210	NM_001010874.4	43	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33990.1	127	MUTECT|MUSE|VARSCANS	.	GCCCGCTGAGA	NONE	.	.	hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27	.	.	ENSP00000370607	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000381210	Transcript	.	.	ENSG00000205678	27365	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.11)	.	TECRL_HUMAN	TECRL	HGNC	D6RBZ3_HUMAN	.	UPI0000141A54	SNV	TECRL,missense_variant,p.Ala43Thr,ENST00000381210,;TECRL,missense_variant,p.Ala43Thr,ENST00000509536,;TECRL,missense_variant,p.Ala43Thr,ENST00000507440,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;	238	104	106	SUCCESS
DMXL1	1657	.	GRCh37	5	118469442	118469442	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	46	156	0	ENST00000311085.8:c.1823T>A	p.Leu608Gln	p.L608Q	ENST00000311085	NM_005509.4	608	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4125.1	1823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTGAATC	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	12/43	.	.	.	.	.	.	.	.	.	12/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Leu608Gln,ENST00000539542,;DMXL1,missense_variant,p.Leu608Gln,ENST00000311085,;DMXL1,downstream_gene_variant,,ENST00000503802,;DMXL1,downstream_gene_variant,,ENST00000514151,;DMXL1,downstream_gene_variant,,ENST00000504031,;DMXL1,upstream_gene_variant,,ENST00000512281,;LAMTOR3P2,upstream_gene_variant,,ENST00000504479,;	1903	156	175	SUCCESS
FBN2	2201	.	GRCh37	5	127714494	127714494	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199720456	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	92	0	ENST00000262464.4:c.1693C>A	p.Gln565Lys	p.Q565K	ENST00000262464	NM_001999.3	565	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34222.1	1693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGGAATC	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	18/71	.	.	.	.	.	.	.	.	rs199720456	18/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	tolerated(0.15)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Gln565Lys,ENST00000262464,;FBN2,missense_variant,p.Gln565Lys,ENST00000508053,;FBN2,missense_variant,p.Gln532Lys,ENST00000508989,;FBN2,upstream_gene_variant,,ENST00000511489,;	2668	92	81	SUCCESS
ANKHD1	54882	.	GRCh37	5	139892497	139892497	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs765885427	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	114	163	0	ENST00000360839.2:c.4189A>G	p.Ile1397Val	p.I1397V	ENST00000360839	NM_017747.2	1397	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4224.1	4189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAATTACA	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	23/36	.	.	.	.	.	.	.	.	rs765885427	23/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Ile1397Val,ENST00000297183,;ANKHD1,missense_variant,p.Ile550Val,ENST00000412116,;ANKHD1,missense_variant,p.Ile623Val,ENST00000246149,;ANKHD1,missense_variant,p.Ile1397Val,ENST00000360839,;ANKHD1,missense_variant,p.Ile1416Val,ENST00000421134,;ANKHD1,missense_variant,p.Ile53Val,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Ile1397Val,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000506930,;	4313	163	184	SUCCESS
PCDHA1	56147	.	GRCh37	5	140232551	140232551	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	33	0	ENST00000504120.2:c.2394+64282C>A		p.*798*	ENST00000504120	NM_018900.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54920.1	.	MUTECT|MUSE	.	CTCCCCCTCCC	NONE	.	.	.	.	.	ENSP00000436042	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,3_prime_UTR_variant,,ENST00000378122,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA10,upstream_gene_variant,,ENST00000506939,;PCDHA10,upstream_gene_variant,,ENST00000307360,;	.	33	33	SUCCESS
MYO10	4651	.	GRCh37	5	16761637	16761637	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	26	52	0	ENST00000513610.1:c.1675G>T	p.Gly559Cys	p.G559C	ENST00000513610	NM_012334.2	559	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS54834.1	1675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACCTCGGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	17/41	.	.	.	.	.	.	.	.	.	17/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Gly570Cys,ENST00000513882,;MYO10,missense_variant,p.Gly559Cys,ENST00000513610,;MYO10,upstream_gene_variant,,ENST00000510401,;	2130	52	48	SUCCESS
ZNF354C	30832	.	GRCh37	5	178505747	178505747	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	14	133	0	ENST00000315475.6:c.314C>A	p.Thr105Lys	p.T105K	ENST00000315475	NM_014594.1	105	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS4443.1	314	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACATCTC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF140	.	.	ENSP00000324064	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000315475	Transcript	.	.	ENSG00000177932	16736	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.66)	.	Z354C_HUMAN	ZNF354C	HGNC	Q9NT78_HUMAN	.	UPI0000161A6A	SNV	ZNF354C,missense_variant,p.Thr105Lys,ENST00000315475,;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;	620	133	145	SUCCESS
EGFLAM	133584	.	GRCh37	5	38350697	38350697	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	71	0	ENST00000354891.3:c.386G>C	p.Arg129Pro	p.R129P	ENST00000354891	NM_001205301.1	129	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS56363.1	386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGGCATG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000346964	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	deleterious_low_confidence(0)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Arg129Pro,ENST00000354891,;EGFLAM,missense_variant,p.Arg129Pro,ENST00000322350,;EGFLAM-AS3,upstream_gene_variant,,ENST00000505267,;EGFLAM,3_prime_UTR_variant,,ENST00000504709,;	732	71	70	SUCCESS
MAK	4117	.	GRCh37	6	10818123	10818123	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	48	120	0	ENST00000313243.2:c.238G>T	p.Glu80Ter	p.E80*	ENST00000313243		80	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS4516.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTCAAATA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF113,hmmpanther:PTHR24055,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000313021	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000313243	Transcript	.	.	ENSG00000111837	6816	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAK_HUMAN	MAK	HGNC	.	.	UPI0000001BCD	SNV	MAK,stop_gained,p.Glu80Ter,ENST00000354489,;MAK,stop_gained,p.Glu80Ter,ENST00000538030,;MAK,stop_gained,p.Glu80Ter,ENST00000474039,;MAK,stop_gained,p.Glu80Ter,ENST00000313243,;MAK,stop_gained,p.Glu80Ter,ENST00000536370,;SYCP2L,intron_variant,,ENST00000543878,;TMEM14B,intron_variant,,ENST00000489137,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,intron_variant,,ENST00000463448,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000463100,;	621	120	134	SUCCESS
IFNGR1	3459	.	GRCh37	6	137519200	137519200	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs755295646	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	81	121	0	ENST00000367739.4:c.1438A>T	p.Arg480Ter	p.R480*	ENST00000367739	NM_000416.2	480	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5185.1	1438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTATAAC	NONE	.	.	hmmpanther:PTHR20859:SF5,hmmpanther:PTHR20859,Prints_domain:PR01777	.	.	ENSP00000356713	.	7/7	.	.	.	.	.	.	.	.	rs755295646	7/7	PASS	ENST00000367739	Transcript	.	.	ENSG00000027697	5439	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INGR1_HUMAN	IFNGR1	HGNC	Q7Z687_HUMAN,Q14936_HUMAN,E5QBZ2_HUMAN,A1Z2M9_HUMAN	.	UPI000002CE40	SNV	IFNGR1,stop_gained,p.Arg452Ter,ENST00000543628,;IFNGR1,stop_gained,p.Arg480Ter,ENST00000367739,;	1560	121	148	SUCCESS
ACAT2	39	.	GRCh37	6	160184055	160184055	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	50	193	0	ENST00000367048.4:c.160G>T	p.Glu54Ter	p.E54*	ENST00000367048	NM_005891.2	54	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS5268.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGAGGTC	NONE	.	.	hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,Gene3D:3.40.47.10,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000356015	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,stop_gained,p.Glu83Ter,ENST00000541436,;ACAT2,stop_gained,p.Glu54Ter,ENST00000367048,;SOD2,upstream_gene_variant,,ENST00000546087,;ACAT2,non_coding_transcript_exon_variant,,ENST00000467951,;SOD2,upstream_gene_variant,,ENST00000535372,;	1920	193	202	SUCCESS
T	0	.	GRCh37	6	166571945	166571945	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756318370	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	44	105	0	ENST00000296946.2:c.1166C>T	p.Pro389Leu	p.P389L	ENST00000296946	NM_003181.3	389	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5290.1	1166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGGATGG	NONE	byFrequency	.	hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267	.	.	ENSP00000296946	.	9/9	.	.	.	.	.	.	.	.	rs756318370	9/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.14)	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,missense_variant,p.Pro390Leu,ENST00000366876,;T,missense_variant,p.Pro331Leu,ENST00000366871,;T,missense_variant,p.Pro389Leu,ENST00000296946,;	1635	105	140	SUCCESS
ZNF192P1	651302	.	GRCh37	6	28134788	28134788	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	72	0	ENST00000440790.2:n.891C>A		p.*297*	ENST00000440790				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATACTGGTG	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000440790	Transcript	.	.	ENSG00000226314	18777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF192P1	HGNC	.	.	.	SNV	ZNF192P1,non_coding_transcript_exon_variant,,ENST00000562227,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000440790,;ZNF192P1,downstream_gene_variant,,ENST00000570126,;ZNF192P1,downstream_gene_variant,,ENST00000570042,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000565888,;	891	72	95	SUCCESS
GPX6	257202	.	GRCh37	6	28478622	28478622	+	synonymous_variant	Silent	SNP	G	G	A	rs767523979	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	52	112	0	ENST00000361902.1:c.147C>T	p.Asn49=	p.N49=	ENST00000361902	NM_182701.1	49	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS43432.1	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCGTTGAG	NONE	byFrequency	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000303,Gene3D:3.40.30.10,Pfam_domain:PF00255,hmmpanther:PTHR11592:SF15,hmmpanther:PTHR11592,PROSITE_profiles:PS51355	.	.	ENSP00000354581	.	2/5	.	.	.	.	.	.	.	.	rs767523979,COSM3861185	2/5	PASS	ENST00000361902	Transcript	.	.	ENSG00000198704	4558	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GPX6_HUMAN	GPX6	HGNC	A3KN74_HUMAN	.	UPI00001B2975	SNV	GPX6,synonymous_variant,p.%3D,ENST00000361902,;GPX6,synonymous_variant,p.%3D,ENST00000474923,;GPX6,non_coding_transcript_exon_variant,,ENST00000483058,;	197	112	112	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33411166	33411166	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752316341	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	63	95	0	ENST00000418600.2:c.2837G>C	p.Gly946Ala	p.G946A	ENST00000418600	NM_006772.2	946	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS34434.2	2837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGAGGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Pfam_domain:PF12004	.	.	ENSP00000403636	.	15/19	.	.	.	.	.	.	.	.	rs752316341	15/19	PASS	ENST00000418600	Transcript	.	.	ENSG00000197283	11497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.454)	.	tolerated(0.74)	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,missense_variant,p.Gly887Ala,ENST00000428982,;SYNGAP1,missense_variant,p.Gly946Ala,ENST00000418600,;SYNGAP1,missense_variant,p.Gly946Ala,ENST00000293748,;SYNGAP1,missense_variant,p.Gly932Ala,ENST00000449372,;MIR5004,downstream_gene_variant,,ENST00000579078,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000486399,;SYNGAP1,downstream_gene_variant,,ENST00000495633,;SYNGAP1,upstream_gene_variant,,ENST00000470232,;SYNGAP1,downstream_gene_variant,,ENST00000479510,;	2938	95	110	SUCCESS
PTCHD4	442213	.	GRCh37	6	48036326	48036326	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	59	0	ENST00000339488.4:c.66G>C	p.Val22=	p.V22=	ENST00000339488	NM_001013732.3	22	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS34473.2	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGCACCTG	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15	.	.	ENSP00000341914	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,synonymous_variant,p.%3D,ENST00000543600,;PTCHD4,synonymous_variant,p.%3D,ENST00000398738,;PTCHD4,synonymous_variant,p.%3D,ENST00000339488,;	100	59	104	SUCCESS
TINAG	27283	.	GRCh37	6	54186162	54186162	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	24	42	0	ENST00000259782.4:c.487C>T	p.Gln163Ter	p.Q163*	ENST00000259782	NM_014464.3	163	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS4955.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAACAGGTC	NONE	.	.	Superfamily_domains:SSF54001,hmmpanther:PTHR12411:SF274,hmmpanther:PTHR12411	.	.	ENSP00000259782	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000259782	Transcript	.	.	ENSG00000137251	14599	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TINAG_HUMAN	TINAG	HGNC	B1AQ11_HUMAN	.	UPI000013D078	SNV	TINAG,stop_gained,p.Gln159Ter,ENST00000370869,;TINAG,stop_gained,p.Gln145Ter,ENST00000370864,;TINAG,stop_gained,p.Gln163Ter,ENST00000259782,;TINAG,non_coding_transcript_exon_variant,,ENST00000486436,;	583	42	41	SUCCESS
KCNQ5	56479	.	GRCh37	6	73879546	73879546	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767297128	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	88	135	0	ENST00000370398.1:c.1546C>T	p.Pro516Ser	p.P516S	ENST00000370398	NM_019842.3	516	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS55034.1	1603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCCACCA	NONE	.	.	Pfam_domain:PF03520	.	.	ENSP00000345055	.	12/15	.	.	.	.	.	.	.	.	rs767297128	12/15	PASS	ENST00000342056	Transcript	.	.	ENSG00000185760	6299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.377)	.	tolerated(0.06)	.	.	KCNQ5	HGNC	A6PVT6_HUMAN	.	UPI000155D644	SNV	KCNQ5,missense_variant,p.Pro535Ser,ENST00000342056,;KCNQ5,missense_variant,p.Pro526Ser,ENST00000402622,;KCNQ5,missense_variant,p.Pro516Ser,ENST00000355194,;KCNQ5,missense_variant,p.Pro516Ser,ENST00000370398,;KCNQ5,missense_variant,p.Pro517Ser,ENST00000355635,;KCNQ5,missense_variant,p.Pro507Ser,ENST00000403813,;KCNQ5,intron_variant,,ENST00000414165,;	2001	135	173	SUCCESS
RELN	5649	.	GRCh37	7	103292164	103292164	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	38	92	0	ENST00000428762.1:c.1836C>A	p.Ile612=	p.I612=	ENST00000428762	NM_005045.3	612	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS47680.1	1836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGATCTC	NONE	.	.	hmmpanther:PTHR11841,Superfamily_domains:SSF50939	.	.	ENSP00000392423	.	15/65	.	.	.	.	.	.	.	.	.	15/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,synonymous_variant,p.%3D,ENST00000424685,;RELN,synonymous_variant,p.%3D,ENST00000428762,;RELN,synonymous_variant,p.%3D,ENST00000343529,;	1996	92	68	SUCCESS
PRSS37	136242	.	GRCh37	7	141537672	141537672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	74	198	0	ENST00000350549.3:c.418C>A	p.Gln140Lys	p.Q140K	ENST00000350549	NM_001008270.2	140	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34764.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGGCTCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF29,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000297767	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000350549	Transcript	.	.	ENSG00000165076	29211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.37)	.	PRS37_HUMAN	PRSS37	HGNC	B7ZMK3_HUMAN	.	UPI000004223A	SNV	PRSS37,missense_variant,p.Gln140Lys,ENST00000438520,;PRSS37,missense_variant,p.Gln140Lys,ENST00000350549,;PRSS37,3_prime_UTR_variant,,ENST00000452758,;PRSS37,3_prime_UTR_variant,,ENST00000419085,;	790	198	164	SUCCESS
CARD11	84433	.	GRCh37	7	2968238	2968238	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	50	0	ENST00000396946.4:c.1748A>G	p.His583Arg	p.H583R	ENST00000396946	NM_032415.4	583	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS5336.2	1748	RADIA|MUTECT|MUSE	.	TGCGATGGGGC	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.04)	.	tolerated(0.43)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.His583Arg,ENST00000396946,;CARD11,missense_variant,p.His54Arg,ENST00000355508,;	2152	50	24	SUCCESS
ADCY1	107	.	GRCh37	7	45688359	45688359	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	68	238	0	ENST00000297323.7:c.1111T>A	p.Cys371Ser	p.C371S	ENST00000297323	NM_021116.2	371	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS34631.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTGTGTG	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000297323	.	5/20	.	.	.	.	.	.	.	.	COSM4164358	5/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.843)	.	tolerated(0.1)	1	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,missense_variant,p.Cys146Ser,ENST00000432715,;ADCY1,missense_variant,p.Cys371Ser,ENST00000297323,;	1133	238	165	SUCCESS
ADCY1	107	.	GRCh37	7	45717579	45717579	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs767043187	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	56	199	0	ENST00000297323.7:c.1717T>A	p.Leu573Ile	p.L573I	ENST00000297323	NM_021116.2	573	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS34631.1	1717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTTAGAA	NONE	.	.	hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920	.	.	ENSP00000297323	.	9/20	.	.	.	.	.	.	.	.	rs767043187	9/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,missense_variant,p.Leu573Ile,ENST00000297323,;	1739	199	164	SUCCESS
GRM3	2913	.	GRCh37	7	86416221	86416221	+	synonymous_variant	Silent	SNP	C	C	T	rs1432324457	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	84	0	ENST00000361669.2:c.1113C>T	p.Arg371=	p.R371=	ENST00000361669	NM_000840.2	371	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5600.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGCGTCTG	NONE	.	.	hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01053	.	.	ENSP00000355316	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000361669	Transcript	.	.	ENSG00000198822	4595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM3_HUMAN	GRM3	HGNC	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN	.	UPI0000153EFC	SNV	GRM3,synonymous_variant,p.%3D,ENST00000536043,;GRM3,synonymous_variant,p.%3D,ENST00000439827,;GRM3,synonymous_variant,p.%3D,ENST00000394720,;GRM3,synonymous_variant,p.%3D,ENST00000361669,;GRM3,intron_variant,,ENST00000546348,;GRM3,downstream_gene_variant,,ENST00000454217,;AC005009.2,upstream_gene_variant,,ENST00000418031,;AC005009.2,upstream_gene_variant,,ENST00000452471,;	2212	84	80	SUCCESS
SAMD9	54809	.	GRCh37	7	92732475	92732475	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	134	0	ENST00000379958.2:c.2936G>T	p.Cys979Phe	p.C979F	ENST00000379958	NM_017654.3	979	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34680.1	2936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACAGTAG	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.07)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Cys979Phe,ENST00000446617,;SAMD9,missense_variant,p.Cys979Phe,ENST00000379958,;	3206	134	111	SUCCESS
OXR1	55074	.	GRCh37	8	107719001	107719001	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	17	72	0	ENST00000442977.2:c.1255G>T	p.Glu419Ter	p.E419*	ENST00000442977	NM_001198532.1	419	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS56548.1	1255	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGAAATG	NONE	.	.	hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354	.	.	ENSP00000405424	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,stop_gained,p.Glu351Ter,ENST00000497705,;OXR1,stop_gained,p.Glu419Ter,ENST00000442977,;OXR1,stop_gained,p.Glu411Ter,ENST00000312046,;OXR1,stop_gained,p.Glu132Ter,ENST00000519415,;OXR1,stop_gained,p.Glu418Ter,ENST00000445937,;OXR1,stop_gained,p.Glu418Ter,ENST00000531443,;OXR1,stop_gained,p.Glu418Ter,ENST00000517566,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,downstream_gene_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;	1354	72	159	SUCCESS
TRPS1	7227	.	GRCh37	8	116599692	116599692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	343	77	241	0	ENST00000220888.5:c.2197A>T	p.Ile733Leu	p.I733L	ENST00000220888		733	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS6318.2	2236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATGGCAT	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(1)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Ile737Leu,ENST00000520276,;TRPS1,missense_variant,p.Ile733Leu,ENST00000220888,;TRPS1,missense_variant,p.Ile537Leu,ENST00000517323,;TRPS1,missense_variant,p.Ile487Leu,ENST00000519076,;TRPS1,missense_variant,p.Ile746Leu,ENST00000395715,;TRPS1,missense_variant,p.Ile733Leu,ENST00000519674,;	2814	241	420	SUCCESS
PIWIL2	55124	.	GRCh37	8	22146165	22146165	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	94	160	0	ENST00000356766.6:c.972T>C	p.Asn324=	p.N324=	ENST00000356766	NM_018068.3	324	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS6029.1	972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAATGTTGT	NONE	.	.	Superfamily_domains:SSF101690,hmmpanther:PTHR22892:SF30,hmmpanther:PTHR22892	.	.	ENSP00000349208	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000356766	Transcript	.	.	ENSG00000197181	17644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL2_HUMAN	PIWIL2	HGNC	.	.	UPI000006E98E	SNV	PIWIL2,synonymous_variant,p.%3D,ENST00000521356,;PIWIL2,synonymous_variant,p.%3D,ENST00000454009,;PIWIL2,synonymous_variant,p.%3D,ENST00000356766,;	1120	160	170	SUCCESS
IDO2	169355	.	GRCh37	8	39873103	39873103	+	synonymous_variant	Silent	SNP	C	C	A	rs1270954691	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	89	0	ENST00000389060.4:c.1206C>A	p.Ile402=	p.I402=	ENST00000389060		402	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	.	1245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATCCTTCA	NONE	.	.	Superfamily_domains:SSF140959	.	.	ENSP00000443432	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000502986	Transcript	.	.	ENSG00000188676	27269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IDO2	HGNC	F5H5G0_HUMAN	.	UPI000152B4F4	SNV	IDO2,synonymous_variant,p.%3D,ENST00000389060,;IDO2,synonymous_variant,p.%3D,ENST00000502986,;IDO2,non_coding_transcript_exon_variant,,ENST00000418094,;IDO2,non_coding_transcript_exon_variant,,ENST00000343295,;	1487	89	82	SUCCESS
PRKDC	5591	.	GRCh37	8	48815178	48815178	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	80	0	ENST00000314191.2:c.3220A>T	p.Lys1074Ter	p.K1074*	ENST00000314191	NM_006904.6	1074	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	.	3220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTGAAAG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000313420	.	27/87	.	.	.	.	.	.	.	.	.	27/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,stop_gained,p.Lys1074Ter,ENST00000338368,;PRKDC,stop_gained,p.Lys1074Ter,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	3277	80	69	SUCCESS
PXDNL	137902	.	GRCh37	8	52322116	52322116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776683885	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	50	108	0	ENST00000356297.4:c.2068C>T	p.Arg690Trp	p.R690W	ENST00000356297	NM_144651.4	690	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47855.1	2068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACCGGAATT	NONE	.	.	hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	rs776683885	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.06)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Arg690Trp,ENST00000543296,;PXDNL,missense_variant,p.Arg690Trp,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	2169	108	99	SUCCESS
RB1CC1	9821	.	GRCh37	8	53540730	53540730	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	45	0	ENST00000025008.5:c.4500-2A>C		p.X1500_splice	ENST00000025008	NM_014781.4	1500		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34892.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTGAATA	NONE	.	.	.	.	.	ENSP00000025008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	HIGH	21/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,splice_acceptor_variant,,ENST00000025008,;RB1CC1,splice_acceptor_variant,,ENST00000539297,;RB1CC1,splice_acceptor_variant,,ENST00000435644,;RB1CC1,splice_acceptor_variant,,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,splice_acceptor_variant,,ENST00000522957,;	.	45	64	SUCCESS
CA8	767	.	GRCh37	8	61193683	61193683	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	38	0	ENST00000317995.4:c.24A>T	p.Glu8Asp	p.E8D	ENST00000317995	NM_004056.4	8	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS6174.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTTCGAT	NONE	.	.	hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF99	.	.	ENSP00000314407	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000317995	Transcript	1	.	ENSG00000178538	1382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	tolerated_low_confidence(0.05)	.	CAH8_HUMAN	CA8	HGNC	B4DFA0_HUMAN	.	UPI000000D816	SNV	CA8,missense_variant,p.Glu8Asp,ENST00000317995,;CA8,non_coding_transcript_exon_variant,,ENST00000529918,;CA8,non_coding_transcript_exon_variant,,ENST00000524872,;	289	38	38	SUCCESS
PREX2	80243	.	GRCh37	8	69009253	69009253	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	5	94	0	ENST00000288368.4:c.2370G>A		p.X790_splice	ENST00000288368	NM_024870.2	790	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS6201.1	2370	MUTECT|MUSE	.	CCAGAGGTTAT	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	22/40	.	.	.	.	.	.	.	.	.	22/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;RP11-403D15.2,upstream_gene_variant,,ENST00000526901,;PREX2,splice_region_variant,,ENST00000517617,;PREX2,splice_region_variant,,ENST00000529398,;	2647	94	147	SUCCESS
PREX2	80243	.	GRCh37	8	69104009	69104009	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202233704	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	367	23	201	0	ENST00000288368.4:c.4399G>T	p.Ala1467Ser	p.A1467S	ENST00000288368	NM_024870.2	1467	Gcc/Tcc	0	.	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS6201.1	4399	MUTECT|MUSE	.	AAGCTGCCTAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	A:0	.	ENSP00000288368	A:0.001	36/40	.	.	.	.	.	.	.	.	rs202233704,COSM1221946	36/40	PASS	ENST00000288368	Transcript	.	A:0.0002	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.112)	A:0	deleterious(0)	0,1	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ala1467Ser,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000522247,;PREX2,non_coding_transcript_exon_variant,,ENST00000520235,;	4676	201	390	SUCCESS
FABP9	646480	.	GRCh37	8	82371529	82371529	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	54	137	0	ENST00000379071.2:c.117G>T	p.Pro39=	p.P39=	ENST00000379071	NM_001080526.1	39	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	.	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTCGGTTT	NONE	.	.	hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF70,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814	.	.	ENSP00000368362	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000379071	Transcript	.	.	ENSG00000205186	3563	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FABP9_HUMAN	FABP9	HGNC	.	.	UPI000004D28E	SNV	FABP9,synonymous_variant,p.%3D,ENST00000379071,;RP11-157I4.4,intron_variant,,ENST00000524085,;	173	137	230	SUCCESS
SCAI	286205	.	GRCh37	9	127734043	127734043	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	81	131	0	ENST00000336505.6:c.1480A>T	p.Ser494Cys	p.S494C	ENST00000336505	NM_001144877.2	494	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS43877.1	1549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTTGACA	NONE	.	.	hmmpanther:PTHR21243,Pfam_domain:PF12070,PIRSF_domain:PIRSF013022	.	.	ENSP00000362650	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000373549	Transcript	.	.	ENSG00000173611	26709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.321)	.	deleterious(0.02)	.	SCAI_HUMAN	SCAI	HGNC	.	.	UPI000013F2EF	SNV	SCAI,missense_variant,p.Ser517Cys,ENST00000373549,;SCAI,missense_variant,p.Ser494Cys,ENST00000336505,;SCAI,splice_acceptor_variant,,ENST00000477186,;SCAI,3_prime_UTR_variant,,ENST00000467917,;SCAI,3_prime_UTR_variant,,ENST00000494102,;RP11-474P12.3,upstream_gene_variant,,ENST00000316488,;RP11-474P12.3,upstream_gene_variant,,ENST00000411625,;	1608	131	174	SUCCESS
CRAT	1384	.	GRCh37	9	131859581	131859581	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	39	0	ENST00000318080.2:c.1475A>T	p.Lys492Met	p.K492M	ENST00000318080	NM_001257363.1	492	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS6919.1	1475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTTCTGG	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF50,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000315013	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000318080	Transcript	.	.	ENSG00000095321	2342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CACP_HUMAN	CRAT	HGNC	.	.	UPI000014021A	SNV	CRAT,missense_variant,p.Lys91Met,ENST00000455396,;CRAT,missense_variant,p.Lys492Met,ENST00000318080,;RP11-247A12.1,upstream_gene_variant,,ENST00000434250,;CRAT,non_coding_transcript_exon_variant,,ENST00000467343,;CRAT,downstream_gene_variant,,ENST00000464290,;CRAT,3_prime_UTR_variant,,ENST00000458362,;	1770	39	62	SUCCESS
MAMDC4	158056	.	GRCh37	9	139749459	139749459	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	39	0	ENST00000445819.1:c.1094C>T	p.Pro365Leu	p.P365L	ENST00000445819		365	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS7010.1	1094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCCGGCG	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF63,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000319388	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000317446	Transcript	.	.	ENSG00000177943	24083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	AEGP_HUMAN	MAMDC4	HGNC	.	.	UPI0000237828	SNV	MAMDC4,missense_variant,p.Pro365Leu,ENST00000445819,;MAMDC4,missense_variant,p.Pro365Leu,ENST00000317446,;PHPT1,downstream_gene_variant,,ENST00000545326,;PHPT1,downstream_gene_variant,,ENST00000371661,;PHPT1,downstream_gene_variant,,ENST00000247665,;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;PHPT1,downstream_gene_variant,,ENST00000497413,;MAMDC4,upstream_gene_variant,,ENST00000481327,;PHPT1,downstream_gene_variant,,ENST00000462205,;PHPT1,downstream_gene_variant,,ENST00000463215,;PHPT1,downstream_gene_variant,,ENST00000492540,;MAMDC4,upstream_gene_variant,,ENST00000479475,;	1144	39	66	SUCCESS
PIP5K1B	8395	.	GRCh37	9	71491629	71491629	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	50	91	0	ENST00000265382.3:c.237A>T	p.Pro79=	p.P79=	ENST00000265382	NM_003558.3	79	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6624.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCAGACTT	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF34,Gene3D:2gk9B01,SMART_domains:SM00330,Superfamily_domains:SSF56104	.	.	ENSP00000265382	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000265382	Transcript	.	.	ENSG00000107242	8995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI51B_HUMAN	PIP5K1B	HGNC	Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN	.	UPI000002E327	SNV	PIP5K1B,synonymous_variant,p.%3D,ENST00000437200,;PIP5K1B,synonymous_variant,p.%3D,ENST00000265382,;PIP5K1B,synonymous_variant,p.%3D,ENST00000377284,;PIP5K1B,synonymous_variant,p.%3D,ENST00000440050,;PIP5K1B,synonymous_variant,p.%3D,ENST00000541509,;PIP5K1B,synonymous_variant,p.%3D,ENST00000478500,;	542	91	113	SUCCESS
ARMCX3	51566	.	GRCh37	X	100880696	100880696	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	66	156	0	ENST00000341189.4:c.728del	p.Asn243IlefsTer22	p.N243Ifs*22	ENST00000341189	NM_016607.3	243	Aat/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS14489.1	727	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGCTAATTCC	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF8,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	deletion	ARMCX3,frameshift_variant,p.Asn243IlefsTer22,ENST00000471229,;ARMCX3,frameshift_variant,p.Asn243IlefsTer22,ENST00000341189,;ARMCX3,frameshift_variant,p.Asn243IlefsTer22,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3,downstream_gene_variant,,ENST00000491568,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	1593	156	228	SUCCESS
SAGE1	55511	.	GRCh37	X	134989876	134989876	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781906727	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	89	197	0	ENST00000324447.3:c.1035C>A	p.His345Gln	p.H345Q	ENST00000324447		345	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS14652.1	1035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACAATGT	NONE	byFrequency	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	10/20	.	.	.	.	.	.	.	.	rs781906727	10/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.His345Gln,ENST00000370709,;SAGE1,missense_variant,p.His345Gln,ENST00000535938,;SAGE1,missense_variant,p.His345Gln,ENST00000324447,;SAGE1,intron_variant,,ENST00000537770,;	1202	197	217	SUCCESS
EGFL6	25975	.	GRCh37	X	13645318	13645318	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	53	106	0	ENST00000361306.1:c.1474G>C	p.Glu492Gln	p.E492Q	ENST00000361306	NM_015507.3	492	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS55370.1	1477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGAGAAG	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR24050:SF18,hmmpanther:PTHR24050,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000369976	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000380602	Transcript	.	.	ENSG00000198759	3235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0.01)	.	EGFL6_HUMAN	EGFL6	HGNC	.	.	UPI0000034CAE	SNV	EGFL6,missense_variant,p.Glu493Gln,ENST00000380602,;EGFL6,missense_variant,p.Glu492Gln,ENST00000361306,;EGFL6,downstream_gene_variant,,ENST00000473826,;	1717	106	114	SUCCESS
MAGEC3	139081	.	GRCh37	X	140983104	140983104	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1278417044	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	116	301	0	ENST00000298296.1:c.959T>C	p.Leu320Pro	p.L320P	ENST00000298296	NM_138702.1	320	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS14676.1	959	RADIA|MUTECT|MUSE	.	TGCACTGTGGG	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47	.	.	ENSP00000298296	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.127)	.	tolerated(0.15)	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,missense_variant,p.Leu72Pro,ENST00000448920,;MAGEC3,missense_variant,p.Leu320Pro,ENST00000298296,;MAGEC3,5_prime_UTR_variant,,ENST00000544766,;MAGEC3,intron_variant,,ENST00000443323,;MAGEC3,intron_variant,,ENST00000536088,;MAGEC3,upstream_gene_variant,,ENST00000409007,;MAGEC3,non_coding_transcript_exon_variant,,ENST00000483584,;	959	301	304	SUCCESS
CNGA2	1260	.	GRCh37	X	150912895	150912895	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	8	104	0	ENST00000329903.4:c.1920G>T	p.Met640Ile	p.M640I	ENST00000329903	NM_005140.1	640	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS14701.1	1920	MUTECT|MUSE|VARSCANS	.	AAGATGAAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF389	.	.	ENSP00000328478	.	6/6	.	.	.	.	.	.	.	.	COSM456982	6/6	PASS	ENST00000329903	Transcript	.	.	ENSG00000183862	2149	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0)	.	tolerated(0.12)	1	CNGA2_HUMAN	CNGA2	HGNC	.	.	UPI000003E7AE	SNV	CNGA2,missense_variant,p.Met640Ile,ENST00000329903,;	1953	104	99	SUCCESS
NSDHL	50814	.	GRCh37	X	152018893	152018893	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	96	213	0	ENST00000370274.3:c.193A>G	p.Asn65Asp	p.N65D	ENST00000370274	NM_015922.2	65	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS14717.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCAATGTA	NONE	.	.	hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF242,Pfam_domain:PF01073,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000359297	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000370274	Transcript	.	.	ENSG00000147383	13398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	tolerated(0.11)	.	NSDHL_HUMAN	NSDHL	HGNC	C9JDR0_HUMAN	.	UPI0000000C8A	SNV	NSDHL,missense_variant,p.Asn65Asp,ENST00000440023,;NSDHL,missense_variant,p.Asn65Asp,ENST00000432467,;NSDHL,missense_variant,p.Asn65Asp,ENST00000370274,;	387	213	210	SUCCESS
RAI2	10742	.	GRCh37	X	17819079	17819079	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140631545	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	10	116	0	ENST00000331511.1:c.1052G>A	p.Arg351Gln	p.R351Q	ENST00000331511		351	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS14183.1	1052	MUTECT|MUSE|VARSCANS	.	ATTTCCGGTGG	NONE	byCluster	.	hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF3	.	T:0.0001	ENSP00000444210	.	3/3	.	.	.	.	.	.	.	.	rs140631545,COSM1292971	3/3	PASS	ENST00000545871	Transcript	.	.	ENSG00000131831	9835	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	unknown(0)	.	deleterious(0.01)	0,1	RAI2_HUMAN	RAI2	HGNC	.	.	UPI000013CE19	SNV	RAI2,missense_variant,p.Arg351Gln,ENST00000331511,;RAI2,missense_variant,p.Arg351Gln,ENST00000360011,;RAI2,missense_variant,p.Arg351Gln,ENST00000451717,;RAI2,missense_variant,p.Arg301Gln,ENST00000415486,;RAI2,missense_variant,p.Arg351Gln,ENST00000545871,;RAI2,downstream_gene_variant,,ENST00000509491,;	1513	116	132	SUCCESS
MAGEB18	286514	.	GRCh37	X	26157856	26157856	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	72	221	0	ENST00000325250.1:c.754A>T	p.Lys252Ter	p.K252*	ENST00000325250	NM_173699.3	252	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS14216.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTAAAGTAC	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF23,Pfam_domain:PF01454	.	.	ENSP00000314543	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000325250	Transcript	.	.	ENSG00000176774	28515	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGBI_HUMAN	MAGEB18	HGNC	.	.	UPI00001415E3	SNV	MAGEB18,stop_gained,p.Lys252Ter,ENST00000325250,;	941	221	230	SUCCESS
BCOR	54880	.	GRCh37	X	39922123	39922123	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	105	327	0	ENST00000378444.4:c.4049A>T	p.Tyr1350Phe	p.Y1350F	ENST00000378444	NM_001123385.1	1350	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS48093.1	4049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGTATTTC	NONE	.	.	hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	.	.	ENSP00000367705	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000378444	Transcript	.	.	ENSG00000183337	20893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.09)	.	BCOR_HUMAN	BCOR	HGNC	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN	.	UPI00002318CF	SNV	BCOR,missense_variant,p.Tyr1316Phe,ENST00000397354,;BCOR,missense_variant,p.Tyr23Phe,ENST00000442018,;BCOR,missense_variant,p.Tyr1350Phe,ENST00000378444,;BCOR,missense_variant,p.Tyr193Phe,ENST00000378463,;BCOR,missense_variant,p.Tyr45Phe,ENST00000427012,;BCOR,missense_variant,p.Tyr1298Phe,ENST00000378455,;BCOR,missense_variant,p.Tyr220Phe,ENST00000413905,;BCOR,missense_variant,p.Tyr1316Phe,ENST00000342274,;BCOR,downstream_gene_variant,,ENST00000406200,;	4278	327	302	SUCCESS
PPP1R3F	89801	.	GRCh37	X	49126933	49126933	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	21	0	ENST00000055335.6:c.601C>T	p.Arg201Cys	p.R201C	ENST00000055335	NM_033215.4	201	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS35254.1	601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCGCAGC	NONE	.	.	PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF5,Pfam_domain:PF03370	.	.	ENSP00000055335	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000055335	Transcript	.	.	ENSG00000049769	14944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated_low_confidence(0.12)	.	PPR3F_HUMAN	PPP1R3F	HGNC	Q0D2I0_HUMAN	.	UPI00001D7BA8	SNV	PPP1R3F,missense_variant,p.Arg201Cys,ENST00000055335,;PPP1R3F,intron_variant,,ENST00000438316,;PPP1R3F,intron_variant,,ENST00000466508,;PPP1R3F,intron_variant,,ENST00000495799,;PPP1R3F,upstream_gene_variant,,ENST00000471261,;LL0XNC01-7P3.1,upstream_gene_variant,,ENST00000602455,;	617	21	27	SUCCESS
ITIH6	347365	.	GRCh37	X	54780134	54780134	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	71	132	0	ENST00000218436.6:c.3302T>A	p.Leu1101Gln	p.L1101Q	ENST00000218436	NM_198510.2	1101	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14361.1	3302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCAGTGTG	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	.	ENSP00000218436	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Leu1101Gln,ENST00000218436,;	3332	132	150	SUCCESS
ZMYM3	9203	.	GRCh37	X	70467743	70467743	+	synonymous_variant	Silent	SNP	C	C	T	rs200745411	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	59	173	0	ENST00000314425.5:c.1989G>A	p.Leu663=	p.L663=	ENST00000314425	NM_201599.2	663	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14409.1	1989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTACAGCAG	NONE	byCluster	.	SMART_domains:SM00746,Pfam_domain:PF06467,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF32	.	.	ENSP00000343909	.	12/25	.	.	.	.	.	.	.	.	rs200745411	12/25	PASS	ENST00000353904	Transcript	.	.	ENSG00000147130	13054	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM3_HUMAN	ZMYM3	HGNC	.	.	UPI000013C339	SNV	ZMYM3,synonymous_variant,p.%3D,ENST00000373988,;ZMYM3,synonymous_variant,p.%3D,ENST00000373984,;ZMYM3,synonymous_variant,p.%3D,ENST00000314425,;ZMYM3,synonymous_variant,p.%3D,ENST00000373998,;ZMYM3,synonymous_variant,p.%3D,ENST00000353904,;ZMYM3,downstream_gene_variant,,ENST00000373982,;ZMYM3,downstream_gene_variant,,ENST00000373978,;ZMYM3,downstream_gene_variant,,ENST00000373981,;ZMYM3,non_coding_transcript_exon_variant,,ENST00000489332,;ZMYM3,upstream_gene_variant,,ENST00000470832,;	2177	173	183	SUCCESS
TAF1	6872	.	GRCh37	X	70617219	70617219	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	328	202	478	0	ENST00000373790.4:c.3520G>A	p.Glu1174Lys	p.E1174K	ENST00000373790	NM_004606.3	1174	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14412.1	3583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATGAAGAG	NONE	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	23/38	.	.	.	.	.	.	.	.	.	23/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	tolerated(0.16)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.Glu1174Lys,ENST00000373790,;TAF1,missense_variant,p.Glu1174Lys,ENST00000449580,;TAF1,missense_variant,p.Glu1195Lys,ENST00000276072,;TAF1,missense_variant,p.Glu85Lys,ENST00000483985,;TAF1,missense_variant,p.Glu1195Lys,ENST00000423759,;	3593	478	531	SUCCESS
ATP7A	538	.	GRCh37	X	77244075	77244075	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	82	182	0	ENST00000341514.6:c.458T>C	p.Leu153Pro	p.L153P	ENST00000341514	NM_000052.5	153	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS35339.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACTGGAGA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF211	.	.	ENSP00000345728	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000341514	Transcript	.	.	ENSG00000165240	869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.33)	.	ATP7A_HUMAN	ATP7A	HGNC	.	.	UPI000013E478	SNV	ATP7A,missense_variant,p.Leu153Pro,ENST00000343533,;ATP7A,missense_variant,p.Leu153Pro,ENST00000341514,;ATP7A,intron_variant,,ENST00000350425,;	613	182	222	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83389790	83389790	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	40	95	0	ENST00000262752.2:c.646G>A	p.Asp216Asn	p.D216N	ENST00000262752	NM_014496.4	216	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS14451.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACCTGTTA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000262752	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.Asp216Asn,ENST00000262752,;RPS6KA6,missense_variant,p.Asp216Asn,ENST00000543399,;	654	95	122	SUCCESS
KLHL4	56062	.	GRCh37	X	86873049	86873049	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	140	303	0	ENST00000373119.4:c.842C>A	p.Pro281His	p.P281H	ENST00000373119	NM_019117.4	281	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS14456.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCTTCAA	BUFFER|p.P281P|c.843T>C|3,BUFFER|p.P281P|c.843T>C|3	.	.	hmmpanther:PTHR24412:SF74,hmmpanther:PTHR24412	.	.	ENSP00000362206	.	4/11	.	.	.	.	.	.	.	.	COSM75170	4/11	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.945)	.	deleterious(0)	1	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,missense_variant,p.Pro281His,ENST00000373114,;KLHL4,missense_variant,p.Pro281His,ENST00000373119,;	922	303	312	SUCCESS
MKI67	4288	.	GRCh37	10	129901092	129901092	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	106	0	ENST00000368654.3:c.9012A>T	p.Gly3004=	p.G3004=	ENST00000368654	NM_002417.4	3004	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7659.1	9012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTTCCATC	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,synonymous_variant,p.%3D,ENST00000368654,;MKI67,synonymous_variant,p.%3D,ENST00000368653,;MKI67,non_coding_transcript_exon_variant,,ENST00000464771,;	9388	106	75	SUCCESS
TTC40	0	.	GRCh37	10	134679551	134679551	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1018417455	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	34	0	ENST00000368586.5:c.4868C>T	p.Ser1623Leu	p.S1623L	ENST00000368586	NM_001200049.2	1623	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS58101.1	4868	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTCCGACAGG	NONE	.	.	Gene3D:1.25.40.10,hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	35/58	.	.	.	.	.	.	.	.	.	35/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.579)	.	deleterious(0)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Ser1623Leu,ENST00000368586,;	4969	34	29	SUCCESS
PCDH15	65217	.	GRCh37	10	55839135	55839135	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs573043647	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	57	233	0	ENST00000320301.6:c.2047C>T	p.Arg683Cys	p.R683C	ENST00000320301	NM_033056.3	683	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS44404.1	2047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGATCAG	NONE	by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	A:0	.	ENSP00000354950	A:0.001	17/34	.	.	.	.	.	.	.	.	rs573043647,COSM363195,COSM363197,COSM363196	17/34	PASS	ENST00000361849	Transcript	1	A:0.0002	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.978)	A:0	deleterious(0)	0,1,1,1	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Arg612Cys,ENST00000437009,;PCDH15,missense_variant,p.Arg661Cys,ENST00000395433,;PCDH15,missense_variant,p.Arg690Cys,ENST00000395445,;PCDH15,missense_variant,p.Arg683Cys,ENST00000320301,;PCDH15,missense_variant,p.Arg294Cys,ENST00000409834,;PCDH15,missense_variant,p.Arg646Cys,ENST00000395432,;PCDH15,missense_variant,p.Arg683Cys,ENST00000373955,;PCDH15,missense_variant,p.Arg661Cys,ENST00000373957,;PCDH15,missense_variant,p.Arg683Cys,ENST00000361849,;PCDH15,missense_variant,p.Arg683Cys,ENST00000395438,;PCDH15,missense_variant,p.Arg683Cys,ENST00000395446,;PCDH15,missense_variant,p.Arg688Cys,ENST00000414778,;PCDH15,missense_variant,p.Arg690Cys,ENST00000373965,;PCDH15,missense_variant,p.Arg683Cys,ENST00000395430,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	2442	234	139	SUCCESS
MSANTD4	84437	.	GRCh37	11	105881677	105881677	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs761113939	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	48	0	ENST00000301919.4:c.-33T>G		p.*11*	ENST00000301919	NM_032424.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31663.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGATGTGA	NONE	byFrequency	.	.	.	.	ENSP00000304713	.	2/3	.	.	.	.	.	.	.	.	rs761113939	2/3	PASS	ENST00000301919	Transcript	.	.	ENSG00000170903	29383	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSD4_HUMAN	MSANTD4	HGNC	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN	.	UPI0000073CF1	SNV	MSANTD4,5_prime_UTR_variant,,ENST00000534458,;MSANTD4,5_prime_UTR_variant,,ENST00000530108,;MSANTD4,5_prime_UTR_variant,,ENST00000530788,;MSANTD4,5_prime_UTR_variant,,ENST00000301919,;MSANTD4,upstream_gene_variant,,ENST00000529805,;	1384	48	52	SUCCESS
OR8B8	26493	.	GRCh37	11	124310394	124310394	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	60	180	1	ENST00000328064.2:c.588G>T	p.Glu196Asp	p.E196D	ENST00000328064	NM_012378.1	196	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS8446.1	588	RADIA|SOMATICSNIPER|VARSCANS	.	ACAAGCTCATT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF5,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000330280	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328064	Transcript	.	.	ENSG00000197125	8477	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.046)	.	deleterious_low_confidence(0.02)	.	OR8B8_HUMAN	OR8B8	HGNC	.	.	UPI00000015B1	SNV	OR8B8,missense_variant,p.Glu196Asp,ENST00000328064,;	661	181	253	SUCCESS
RIC8A	60626	.	GRCh37	11	214285	214285	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	9	71	0	ENST00000526104.1:c.1531C>T	p.Gln511Ter	p.Q511*	ENST00000526104	NM_001286134.1	511	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS7690.1	1549	MUTECT|MUSE|VARSCANS	.	CCCTGCAGGAT	NONE	.	.	hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF4	.	.	ENSP00000325941	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000325207	Transcript	.	.	ENSG00000177963	29550	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RIC8A_HUMAN	RIC8A	HGNC	E9PMP0_HUMAN	.	UPI0000037C19	SNV	RIC8A,stop_gained,p.Gln127Ter,ENST00000524854,;RIC8A,stop_gained,p.Gln517Ter,ENST00000325207,;RIC8A,stop_gained,p.Gln505Ter,ENST00000527696,;RIC8A,stop_gained,p.Gln511Ter,ENST00000526104,;RIC8A,splice_region_variant,,ENST00000529275,;RIC8A,downstream_gene_variant,,ENST00000528357,;SIRT3,downstream_gene_variant,,ENST00000529382,;RIC8A,downstream_gene_variant,,ENST00000530889,;RIC8A,downstream_gene_variant,,ENST00000527468,;SIRT3,downstream_gene_variant,,ENST00000532956,;RIC8A,downstream_gene_variant,,ENST00000527728,;SIRT3,downstream_gene_variant,,ENST00000525319,;SIRT3,downstream_gene_variant,,ENST00000524564,;SIRT3,downstream_gene_variant,,ENST00000382743,;RIC8A,non_coding_transcript_exon_variant,,ENST00000531541,;RIC8A,non_coding_transcript_exon_variant,,ENST00000526557,;SIRT3,downstream_gene_variant,,ENST00000529937,;RIC8A,downstream_gene_variant,,ENST00000526982,;RIC8A,downstream_gene_variant,,ENST00000527039,;RIC8A,downstream_gene_variant,,ENST00000530149,;RIC8A,downstream_gene_variant,,ENST00000532241,;RIC8A,downstream_gene_variant,,ENST00000532373,;SIRT3,downstream_gene_variant,,ENST00000532837,;	1874	71	111	SUCCESS
DCDC1	341019	.	GRCh37	11	30937205	30937205	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	188	78	280	1	ENST00000339794.5:c.743A>G	p.Tyr248Cys	p.Y248C	ENST00000339794		248	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	.	.	3506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTATTCG	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958,Pfam_domain:PF00652,Gene3D:2.80.10.50,Superfamily_domains:SSF50370	.	.	ENSP00000472625	.	25/36	.	.	.	.	.	.	.	.	.	25/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Tyr1169Cys,ENST00000597505,;DCDC1,missense_variant,p.Tyr248Cys,ENST00000339794,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,missense_variant,p.Tyr204Cys,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	3506	281	266	SUCCESS
OR8H2	390151	.	GRCh37	11	55872687	55872687	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767833447	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	30	262	1	ENST00000313503.1:c.169C>T	p.His57Tyr	p.H57Y	ENST00000313503	NM_001005200.1	57	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS31518.1	169	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTCACACT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	rs767833447,COSM688696	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.167)	.	deleterious(0.01)	0,1	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.His57Tyr,ENST00000313503,;	169	263	268	SUCCESS
FAM111A	63901	.	GRCh37	11	58916308	58916308	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	20	110	0	ENST00000361723.3:c.-38G>A		p.*13*	ENST00000361723	NM_198847.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7973.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTAGTGTTT	NONE	.	.	.	.	.	ENSP00000434435	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000528737	Transcript	.	.	ENSG00000166801	24725	.	.	HIGH	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F111A_HUMAN	FAM111A	HGNC	E9PR18_HUMAN,E9PNQ0_HUMAN	.	UPI00001FA7CB	SNV	FAM111A,splice_acceptor_variant,,ENST00000531408,;FAM111A,splice_acceptor_variant,,ENST00000420244,;FAM111A,splice_acceptor_variant,,ENST00000528737,;FAM111A,splice_acceptor_variant,,ENST00000533703,;FAM111A,5_prime_UTR_variant,,ENST00000361723,;FAM111A,5_prime_UTR_variant,,ENST00000531147,;FAM111A,5_prime_UTR_variant,,ENST00000527629,;FAM111A,non_coding_transcript_exon_variant,,ENST00000529358,;FAM111A,non_coding_transcript_exon_variant,,ENST00000532790,;	.	110	115	SUCCESS
SUV420H1	0	.	GRCh37	11	67957441	67957441	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	314	112	474	0	ENST00000304363.4:c.103A>T	p.Thr35Ser	p.T35S	ENST00000304363	NM_017635.3	35	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS31623.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGTGTGCT	NONE	.	.	PROSITE_profiles:PS51570,hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10	.	.	ENSP00000305899	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000304363	Transcript	.	.	ENSG00000110066	24283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.99)	.	SV421_HUMAN	SUV420H1	HGNC	E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN	.	UPI00001FADE7	SNV	SUV420H1,missense_variant,p.Thr35Ser,ENST00000434573,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000402789,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000405515,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000304363,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000402185,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000401547,;SUV420H1,intron_variant,,ENST00000458496,;SUV420H1,intron_variant,,ENST00000453170,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000427752,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000441488,;SUV420H1,non_coding_transcript_exon_variant,,ENST00000466295,;	457	474	427	SUCCESS
PICALM	8301	.	GRCh37	11	85712084	85712084	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	388	146	466	0	ENST00000393346.3:c.1011T>C	p.Ala337=	p.A337=	ENST00000393346		337	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8272.1	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAAGCTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22951:SF16,hmmpanther:PTHR22951	.	.	ENSP00000377015	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000393346	Transcript	.	.	ENSG00000073921	15514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PICAL_HUMAN	PICALM	HGNC	E9PLJ8_HUMAN,E9PKP6_HUMAN,E9PI56_HUMAN	.	UPI00001AE879	SNV	PICALM,synonymous_variant,p.%3D,ENST00000532317,;PICALM,synonymous_variant,p.%3D,ENST00000393346,;PICALM,synonymous_variant,p.%3D,ENST00000356360,;PICALM,synonymous_variant,p.%3D,ENST00000528398,;PICALM,synonymous_variant,p.%3D,ENST00000529760,;PICALM,synonymous_variant,p.%3D,ENST00000526033,;PICALM,synonymous_variant,p.%3D,ENST00000530542,;PICALM,synonymous_variant,p.%3D,ENST00000529016,;PICALM,upstream_gene_variant,,ENST00000526961,;PICALM,3_prime_UTR_variant,,ENST00000534412,;PICALM,non_coding_transcript_exon_variant,,ENST00000533350,;	1160	466	535	SUCCESS
CMKLR1	1240	.	GRCh37	12	108686473	108686473	+	synonymous_variant	Silent	SNP	G	G	A	rs201022995	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	165	0	ENST00000312143.7:c.267C>T	p.Asn89=	p.N89=	ENST00000312143	NM_001142344.1	89	aaC/aaT	0	A:0.0007	A:0.0015	.	A:0	.	A	N	protein_coding	YES	CCDS44965.1	267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACGTTGAA	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227:SF2,hmmpanther:PTHR24227,PROSITE_profiles:PS50262	A:0	A:0	ENSP00000311733	A:0	3/3	.	.	.	.	.	.	.	.	rs201022995	3/3	PASS	ENST00000312143	Transcript	.	A:0.0004	ENSG00000174600	2121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CML1_HUMAN	CMKLR1	HGNC	F8VYN7_HUMAN,F8VSC8_HUMAN	.	UPI0000127BD4	SNV	CMKLR1,synonymous_variant,p.%3D,ENST00000312143,;CMKLR1,synonymous_variant,p.%3D,ENST00000550573,;CMKLR1,synonymous_variant,p.%3D,ENST00000549466,;CMKLR1,synonymous_variant,p.%3D,ENST00000397688,;CMKLR1,synonymous_variant,p.%3D,ENST00000552995,;CMKLR1,synonymous_variant,p.%3D,ENST00000412676,;CMKLR1,synonymous_variant,p.%3D,ENST00000550402,;	631	165	97	SUCCESS
PRMT8	56341	.	GRCh37	12	3702274	3702274	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs867638529	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	90	0	ENST00000382622.3:c.1111G>A	p.Asp371Asn	p.D371N	ENST00000382622	NM_019854.4	371	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8521.2	1111	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGATTTC	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:2.70.160.11,hmmpanther:PTHR11006:SF47,hmmpanther:PTHR11006,PROSITE_profiles:PS51678	.	.	ENSP00000372067	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382622	Transcript	.	.	ENSG00000111218	5188	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.369)	.	deleterious(0.02)	.	ANM8_HUMAN	PRMT8	HGNC	.	.	UPI00005B2E00	SNV	PRMT8,missense_variant,p.Asp362Asn,ENST00000452611,;PRMT8,missense_variant,p.Asp371Asn,ENST00000382622,;PRMT8,non_coding_transcript_exon_variant,,ENST00000261252,;PRMT8,non_coding_transcript_exon_variant,,ENST00000543701,;	1501	90	111	SUCCESS
SLC4A8	9498	.	GRCh37	12	51863457	51863457	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	384	37	457	0	ENST00000453097.2:c.1409A>C	p.Tyr470Ser	p.Y470S	ENST00000453097	NM_001039960.2	470	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS44890.1	1409	MUTECT|MUSE	.	CGACTACCGAG	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834,Gene3D:1bzkA00,Prints_domain:PR01231	.	.	ENSP00000405812	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.541)	.	deleterious(0)	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,missense_variant,p.Tyr417Ser,ENST00000394856,;SLC4A8,missense_variant,p.Tyr470Ser,ENST00000453097,;SLC4A8,missense_variant,p.Tyr417Ser,ENST00000535225,;SLC4A8,missense_variant,p.Tyr417Ser,ENST00000514353,;SLC4A8,missense_variant,p.Tyr497Ser,ENST00000358657,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546663,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000550211,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;	1626	458	421	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72057379	72057379	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	23	0	ENST00000378743.3:c.12A>T	p.Ala4=	p.A4=	ENST00000378743	NM_144982.4	4	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS41813.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGCGGT	NONE	.	.	.	.	.	ENSP00000368017	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,synonymous_variant,p.%3D,ENST00000552037,;ZFC3H1,synonymous_variant,p.%3D,ENST00000378743,;ZFC3H1,synonymous_variant,p.%3D,ENST00000548100,;THAP2,5_prime_UTR_variant,,ENST00000308086,;THAP2,upstream_gene_variant,,ENST00000551488,;THAP2,upstream_gene_variant,,ENST00000547843,;THAP2,upstream_gene_variant,,ENST00000551238,;ZFC3H1,intron_variant,,ENST00000550712,;ZFC3H1,upstream_gene_variant,,ENST00000549407,;ZFC3H1,synonymous_variant,p.%3D,ENST00000552994,;	371	23	32	SUCCESS
PCDH20	64881	.	GRCh37	13	61987587	61987587	+	synonymous_variant	Silent	SNP	C	C	T	rs201107730	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	94	0	ENST00000409186.1:c.645G>A	p.Ser215=	p.S215=	ENST00000409186		215	tcG/tcA	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS9442.2	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCGAGAT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,PROSITE_profiles:PS50268	A:0.001	.	ENSP00000386653	A:0	5/5	.	.	.	.	.	.	.	.	rs201107730,COSM297138,COSM297139	5/5	PASS	ENST00000409186	Transcript	.	A:0.0002	ENSG00000197991	14257	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0	.	0,1,1	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,synonymous_variant,p.%3D,ENST00000409204,;PCDH20,synonymous_variant,p.%3D,ENST00000409186,;	2751	94	82	SUCCESS
TMEM260	54916	.	GRCh37	14	57075883	57075883	+	synonymous_variant	Silent	SNP	C	C	G	rs1040465640	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	444	120	507	0	ENST00000261556.6:c.696C>G	p.Pro232=	p.P232=	ENST00000261556	NM_017799.3	232	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9727.2	696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCTATGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16214	.	.	ENSP00000261556	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,synonymous_variant,p.%3D,ENST00000261556,;TMEM260,synonymous_variant,p.%3D,ENST00000538838,;TMEM260,5_prime_UTR_variant,,ENST00000536419,;TMEM260,upstream_gene_variant,,ENST00000553335,;TMEM260,synonymous_variant,p.%3D,ENST00000556422,;TMEM260,synonymous_variant,p.%3D,ENST00000555905,;TMEM260,synonymous_variant,p.%3D,ENST00000539559,;TMEM260,3_prime_UTR_variant,,ENST00000555497,;TMEM260,3_prime_UTR_variant,,ENST00000556929,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556079,;	818	507	564	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77494714	77494714	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	39	0	ENST00000238647.3:c.-579T>C		p.*193*	ENST00000238647	NM_024496.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9854.1	.	SOMATICSNIPER|MUTECT|VARSCANS	.	AAAGGACCTTC	NONE	.	.	.	.	.	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,5_prime_UTR_variant,,ENST00000238647,;	321	39	35	SUCCESS
MAPKBP1	23005	.	GRCh37	15	42110257	42110257	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	76	0	ENST00000456763.2:c.1973del	p.Gln658ArgfsTer52	p.Q658Rfs*52	ENST00000456763	NM_001128608.1	658	cAg/cg	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS45239.1	1973	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCACAGGGTG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847,PROSITE_profiles:PS50294	.	.	ENSP00000393099	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000456763	Transcript	.	.	ENSG00000137802	29536	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MABP1_HUMAN	MAPKBP1	HGNC	D6R9F7_HUMAN	.	UPI00002375CB	deletion	MAPKBP1,frameshift_variant,p.Gln491ArgfsTer52,ENST00000260357,;MAPKBP1,frameshift_variant,p.Gln652ArgfsTer52,ENST00000457542,;MAPKBP1,frameshift_variant,p.Gln658ArgfsTer52,ENST00000456763,;MAPKBP1,frameshift_variant,p.Gln535ArgfsTer52,ENST00000221214,;MAPKBP1,frameshift_variant,p.Gln652ArgfsTer52,ENST00000514566,;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,downstream_gene_variant,,ENST00000503526,;MAPKBP1,upstream_gene_variant,,ENST00000506301,;MAPKBP1,upstream_gene_variant,,ENST00000508050,;MAPKBP1,upstream_gene_variant,,ENST00000502695,;MAPKBP1,downstream_gene_variant,,ENST00000502292,;MAPKBP1,upstream_gene_variant,,ENST00000512433,;	2169	76	171	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79063584	79063584	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	35	114	0	ENST00000388820.4:c.2438G>A	p.Gly813Asp	p.G813D	ENST00000388820	NM_014272.3	813	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32303.1	2438	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACCTGCC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142	.	.	ENSP00000373472	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,missense_variant,p.Gly813Asp,ENST00000388820,;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	2649	114	164	SUCCESS
MT3	4504	.	GRCh37	16	56623457	56623457	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	24	0	ENST00000200691.4:c.-46G>T		p.*16*	ENST00000200691	NM_005954.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10762.1	.	RADIA|VARSCANS	.	CAGTTGCTTGG	NONE	.	.	.	.	.	ENSP00000200691	.	1/3	.	.	.	.	.	.	.	.	.	1/3	oxog	ENST00000200691	Transcript	.	.	ENSG00000087250	7408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MT3_HUMAN	MT3	HGNC	.	.	UPI000002FACE	SNV	MT3,missense_variant,p.Leu30Phe,ENST00000561640,;MT3,5_prime_UTR_variant,,ENST00000570176,;MT3,5_prime_UTR_variant,,ENST00000200691,;MT3,intron_variant,,ENST00000565838,;MT3,non_coding_transcript_exon_variant,,ENST00000566576,;MT3,non_coding_transcript_exon_variant,,ENST00000566451,;	178	24	32	SUCCESS
CDH1	999	.	GRCh37	16	68856129	68856129	+	splice_donor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	71	0	ENST00000261769.5:c.1936+1G>A		p.X646_splice	ENST00000261769	NM_004360.3	646		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10869.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGTGGGT	NONE	.	.	.	.	.	ENSP00000261769	.	.	.	.	.	.	.	.	.	.	COSM435605,COSM1479032	.	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	HIGH	12/15	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,splice_donor_variant,,ENST00000422392,;CDH1,splice_donor_variant,,ENST00000261769,;RP11-354M1.2,intron_variant,,ENST00000563916,;CDH1,splice_donor_variant,,ENST00000562836,;CDH1,splice_donor_variant,,ENST00000566612,;CDH1,splice_donor_variant,,ENST00000566510,;CDH1,upstream_gene_variant,,ENST00000562118,;FTLP14,upstream_gene_variant,,ENST00000562087,;	.	71	73	SUCCESS
BANP	54971	.	GRCh37	16	88098920	88098920	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	17	0	ENST00000286122.7:c.1326C>T	p.Phe442=	p.F442=	ENST00000286122	NM_001173539.1	442	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS54054.1	1326	RADIA|VARSCANS	.	GTCTTCAAAGC	NONE	.	.	hmmpanther:PTHR16243	.	.	ENSP00000376902	.	12/14	.	.	.	.	.	.	.	.	COSM435895	12/14	PASS	ENST00000393207	Transcript	.	.	ENSG00000172530	13450	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	BANP_HUMAN	BANP	HGNC	C9JLT2_HUMAN	.	UPI0000E59DA3	SNV	BANP,synonymous_variant,p.%3D,ENST00000393208,;BANP,synonymous_variant,p.%3D,ENST00000393207,;BANP,synonymous_variant,p.%3D,ENST00000286122,;BANP,synonymous_variant,p.%3D,ENST00000355163,;BANP,intron_variant,,ENST00000479780,;BANP,intron_variant,,ENST00000538234,;BANP,intron_variant,,ENST00000355022,;BANP,intron_variant,,ENST00000565242,;BANP,intron_variant,,ENST00000466847,;	1547	17	18	SUCCESS
SGCA	6442	.	GRCh37	17	48244792	48244792	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371675217	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	45	109	0	ENST00000262018.3:c.101G>T	p.Arg34Leu	p.R34L	ENST00000262018	NM_000023.2	34	cGt/cTt	0	A:0.0002,A:0.0002	A:0,A:0	.	A:0,A:0	.	T	R/L	protein_coding	YES	CCDS32679.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GGGCCGTGTCT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00736,Pfam_domain:PF05510,Gene3D:2.60.40.10,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132	A:0,A:0	A:0.0001,A:0.0001	ENSP00000262018	A:0.001,A:0.001	2/10	.	.	.	.	.	.	.	.	rs371675217,CM951149,SGCA:c.101G>A,COSM1225492	2/10	PASS	ENST00000262018	Transcript	.	A:0.0002	ENSG00000108823	10805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,1	.	.	benign(0.055)	A:0,A:0	tolerated(0.16)	0,0,0,1	SGCA_HUMAN	SGCA	HGNC	.	.	UPI0000135907	SNV	SGCA,missense_variant,p.Arg34Leu,ENST00000543315,;SGCA,missense_variant,p.Arg34Leu,ENST00000344627,;SGCA,missense_variant,p.Arg34Leu,ENST00000262018,;SGCA,5_prime_UTR_variant,,ENST00000451235,;SGCA,intron_variant,,ENST00000511303,;SGCA,upstream_gene_variant,,ENST00000504073,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,intron_variant,,ENST00000513942,;SGCA,upstream_gene_variant,,ENST00000508382,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,missense_variant,p.Arg34Leu,ENST00000502555,;SGCA,missense_variant,p.Val54Leu,ENST00000514934,;SGCA,missense_variant,p.Arg34Leu,ENST00000513821,;SGCA,upstream_gene_variant,,ENST00000512526,;HILS1,downstream_gene_variant,,ENST00000545329,;HILS1,downstream_gene_variant,,ENST00000340499,;	137	109	191	SUCCESS
RAB27B	5874	.	GRCh37	18	52556472	52556472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	118	0	ENST00000262094.5:c.485C>A	p.Thr162Lys	p.T162K	ENST00000262094	NM_004163.4	162	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS11958.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAACAAGTG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF424,PROSITE_profiles:PS51419	.	.	ENSP00000262094	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262094	Transcript	.	.	ENSG00000041353	9767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RB27B_HUMAN	RAB27B	HGNC	K7ES41_HUMAN	.	UPI0000001268	SNV	RAB27B,missense_variant,p.Thr162Lys,ENST00000262094,;RAB27B,intron_variant,,ENST00000592334,;RAB27B,downstream_gene_variant,,ENST00000586570,;RP11-839G9.1,intron_variant,,ENST00000588466,;RAB27B,downstream_gene_variant,,ENST00000586594,;	1006	118	66	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38610466	38610466	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	42	0	ENST00000222345.6:c.2812C>T	p.Leu938=	p.L938=	ENST00000222345	NM_015073.1	938	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33007.1	2812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCTACAG	NONE	.	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	.	.	ENSP00000222345	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,synonymous_variant,p.%3D,ENST00000222345,;SIPA1L3,upstream_gene_variant,,ENST00000600919,;SIPA1L3,non_coding_transcript_exon_variant,,ENST00000601881,;SIPA1L3,downstream_gene_variant,,ENST00000594553,;	3321	42	73	SUCCESS
IRGC	56269	.	GRCh37	19	44223208	44223208	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	21	0	ENST00000244314.5:c.498G>A	p.Val166=	p.V166=	ENST00000244314	NM_019612.3	166	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12629.1	498	RADIA|VARSCANS	.	TTTGTGCGCAC	NONE	.	.	PROSITE_profiles:PS51716,hmmpanther:PTHR32341:SF7,hmmpanther:PTHR32341,Gene3D:3.40.50.300,Pfam_domain:PF05049,Superfamily_domains:SSF52540	.	.	ENSP00000244314	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000244314	Transcript	.	.	ENSG00000124449	28835	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IIGP5_HUMAN	IRGC	HGNC	J7NNX4_HUMAN	.	UPI000011DFC0	SNV	IRGC,synonymous_variant,p.%3D,ENST00000596627,;IRGC,synonymous_variant,p.%3D,ENST00000244314,;	697	21	28	SUCCESS
ADAMTS10	81794	.	GRCh37	19	8661249	8661249	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377333794	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	37	0	ENST00000597188.1:c.1132G>A	p.Val378Ile	p.V378I	ENST00000597188	NM_030957.2	378	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS12206.1	1132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGACGCTGC	SITE|p.V378I|c.1132G>A|3	byFrequency|byCluster	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01421,hmmpanther:PTHR13723:SF26,hmmpanther:PTHR13723,PROSITE_profiles:PS50215	.	T:0.0001	ENSP00000270328	.	9/25	.	.	.	.	.	.	.	.	rs377333794,COSM3404813	9/25	PASS	ENST00000270328	Transcript	1	.	ENSG00000142303	13201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	tolerated(1)	0,1	ATS10_HUMAN	ADAMTS10	HGNC	.	.	UPI000013D883	SNV	ADAMTS10,missense_variant,p.Val378Ile,ENST00000597188,;ADAMTS10,missense_variant,p.Val378Ile,ENST00000270328,;ADAMTS10,upstream_gene_variant,,ENST00000595838,;ADAMTS10,downstream_gene_variant,,ENST00000596709,;ADAMTS10,downstream_gene_variant,,ENST00000596466,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,;ADAMTS10,intron_variant,,ENST00000593913,;ADAMTS10,upstream_gene_variant,,ENST00000603221,;ADAMTS10,upstream_gene_variant,,ENST00000596236,;ADAMTS10,upstream_gene_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000593826,;	1399	37	77	SUCCESS
STXBP3	6814	.	GRCh37	1	109339272	109339272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	55	210	0	ENST00000370008.3:c.1280T>A	p.Ile427Asn	p.I427N	ENST00000370008	NM_007269.2	427	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS790.1	1280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATCCAGA	NONE	.	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:1.25.40.60,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33	.	.	ENSP00000359025	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.583)	.	deleterious(0.02)	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,missense_variant,p.Ile427Asn,ENST00000370008,;STXBP3,non_coding_transcript_exon_variant,,ENST00000472099,;STXBP3,downstream_gene_variant,,ENST00000495245,;	1330	210	188	SUCCESS
FCGR1B	2210	.	GRCh37	1	120928480	120928480	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	789	260	1073	1	ENST00000369384.4:c.563-1063G>A		p.*188*	ENST00000369384	NM_001017986.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30821.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TGCTGCCCATG	NONE	.	.	.	.	.	ENSP00000358391	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369384	Transcript	.	.	ENSG00000198019	3614	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCGRB_HUMAN	FCGR1B	HGNC	.	.	UPI0000071A38	SNV	FCGR1B,intron_variant,,ENST00000369384,;FCGR1B,intron_variant,,ENST00000369383,;RP11-439A17.10,intron_variant,,ENST00000426275,;RP11-439A17.9,intron_variant,,ENST00000457996,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000472543,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000471609,;FCGR1B,intron_variant,,ENST00000369178,;FCGR1B,upstream_gene_variant,,ENST00000466915,;	.	1075	1049	SUCCESS
KPRP	448834	.	GRCh37	1	152732812	152732812	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1428244418	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	59	0	ENST00000606109.1:c.748C>T	p.Arg250Trp	p.R250W	ENST00000606109		250	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS30862.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCGGAGC	SITE|p.R250W|c.748C>T|3	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	COSM3376729	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.008)	.	deleterious(0.05)	1	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Arg250Trp,ENST00000368773,;KPRP,missense_variant,p.Arg250Trp,ENST00000606109,;	806	59	78	SUCCESS
CD1E	913	.	GRCh37	1	158325699	158325699	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	252	13	236	0	ENST00000368167.3:c.708C>T	p.Tyr236=	p.Y236=	ENST00000368167	NM_030893.3	236	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS41417.1	708	MUTECT|MUSE	.	TTCTACCCAAA	BUFFER|p.G232E|c.695G>A|3,BUFFER|p.G234E|c.701G>A|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000357149	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,synonymous_variant,p.%3D,ENST00000368162,;CD1E,synonymous_variant,p.%3D,ENST00000368165,;CD1E,synonymous_variant,p.%3D,ENST00000368163,;CD1E,synonymous_variant,p.%3D,ENST00000434258,;CD1E,synonymous_variant,p.%3D,ENST00000368166,;CD1E,synonymous_variant,p.%3D,ENST00000444681,;CD1E,synonymous_variant,p.%3D,ENST00000368161,;CD1E,synonymous_variant,p.%3D,ENST00000368154,;CD1E,synonymous_variant,p.%3D,ENST00000368160,;CD1E,synonymous_variant,p.%3D,ENST00000368167,;CD1E,synonymous_variant,p.%3D,ENST00000368156,;CD1E,synonymous_variant,p.%3D,ENST00000368164,;CD1E,synonymous_variant,p.%3D,ENST00000368155,;CD1E,synonymous_variant,p.%3D,ENST00000452291,;CD1E,synonymous_variant,p.%3D,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	947	236	265	SUCCESS
HTR6	3362	.	GRCh37	1	20005787	20005787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200009000	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	26	0	ENST00000289753.1:c.1249G>A	p.Ala417Thr	p.A417T	ENST00000289753	NM_000871.1	417	Gcc/Acc	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS197.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCCGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24247:SF90,hmmpanther:PTHR24247	.	A:0.0001	ENSP00000289753	.	3/3	.	.	.	.	.	.	.	.	rs200009000,COSM4135901	3/3	PASS	ENST00000289753	Transcript	.	.	ENSG00000158748	5301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated_low_confidence(0.7)	0,1	5HT6R_HUMAN	HTR6	HGNC	.	.	UPI00000503E0	SNV	HTR6,missense_variant,p.Ala417Thr,ENST00000289753,;TMCO4,downstream_gene_variant,,ENST00000375127,;TMCO4,downstream_gene_variant,,ENST00000294543,;TMCO4,downstream_gene_variant,,ENST00000375122,;TMCO4,downstream_gene_variant,,ENST00000489814,;	1716	26	36	SUCCESS
ZNF281	23528	.	GRCh37	1	200378483	200378483	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	30	0	ENST00000294740.3:c.351C>T	p.Ser117=	p.S117=	ENST00000294740	NM_001281293.1	117	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS1402.1	351	RADIA|VARSCANS	.	CCCCAGGAGGT	NONE	.	.	hmmpanther:PTHR11389:SF327,hmmpanther:PTHR11389	.	.	ENSP00000294740	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000294740	Transcript	.	.	ENSG00000162702	13075	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN281_HUMAN	ZNF281	HGNC	B3KMX4_HUMAN	.	UPI000013C345	SNV	ZNF281,synonymous_variant,p.%3D,ENST00000367353,;ZNF281,synonymous_variant,p.%3D,ENST00000367352,;ZNF281,synonymous_variant,p.%3D,ENST00000294740,;	476	30	36	SUCCESS
MACF1	23499	.	GRCh37	1	39907974	39907974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	114	0	ENST00000372915.3:c.18627G>T	p.Glu6209Asp	p.E6209D	ENST00000372915		6209	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS435.1	12753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAGAAAAT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	72/94	.	.	.	.	.	.	.	.	.	72/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Glu3255Asp,ENST00000372925,;MACF1,missense_variant,p.Glu4251Asp,ENST00000361689,;MACF1,missense_variant,p.Glu4753Asp,ENST00000289893,;MACF1,missense_variant,p.Glu6310Asp,ENST00000564288,;MACF1,missense_variant,p.Glu4121Asp,ENST00000539005,;MACF1,missense_variant,p.Glu6209Asp,ENST00000372915,;MACF1,missense_variant,p.Glu4251Asp,ENST00000317713,;MACF1,missense_variant,p.Glu6347Asp,ENST00000567887,;MACF1,missense_variant,p.Glu4251Asp,ENST00000545844,;MACF1,downstream_gene_variant,,ENST00000469490,;	12861	114	111	SUCCESS
TCEANC2	127428	.	GRCh37	1	54520147	54520148	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	119	41	80	0	ENST00000234827.1:c.52_53insT	p.Lys18IlefsTer14	p.K18Ifs*14	ENST00000234827	NM_153035.1	18	aaa/aTaa	0	.	.	.	.	.	T	K/IX	protein_coding	YES	CCDS587.1	52-53	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGAAAGAT	NONE	.	.	hmmpanther:PTHR11477	.	.	ENSP00000234827	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000234827	Transcript	.	.	ENSG00000116205	26494	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEAN2_HUMAN	TCEANC2	HGNC	.	.	UPI0000073C98	insertion	TCEANC2,frameshift_variant,p.Lys18IlefsTer14,ENST00000234827,;TCEANC2,frameshift_variant,p.Lys48IlefsTer14,ENST00000371331,;TMEM59,upstream_gene_variant,,ENST00000371337,;TMEM59,upstream_gene_variant,,ENST00000440019,;TMEM59,upstream_gene_variant,,ENST00000234831,;TMEM59,upstream_gene_variant,,ENST00000452421,;TMEM59,upstream_gene_variant,,ENST00000420738,;TMEM59,upstream_gene_variant,,ENST00000371341,;MIR4781,downstream_gene_variant,,ENST00000585250,;TCEANC2,non_coding_transcript_exon_variant,,ENST00000498272,;	252-253	80	160	SUCCESS
PRKAA2	5563	.	GRCh37	1	57161707	57161707	+	synonymous_variant	Silent	SNP	G	G	A	rs1193150275	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	499	31	507	1	ENST00000371244.4:c.663G>A	p.Thr221=	p.T221=	ENST00000371244	NM_006252.3	221	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS605.1	663	MUTECT|MUSE	.	CCTACGTTATT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF82,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000360290	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000371244	Transcript	.	.	ENSG00000162409	9377	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AAPK2_HUMAN	PRKAA2	HGNC	.	.	UPI00001250A9	SNV	PRKAA2,synonymous_variant,p.%3D,ENST00000371244,;	729	508	530	SUCCESS
KRTAP10-11	386678	.	GRCh37	21	46066650	46066650	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782517144	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	14	154	0	ENST00000334670.8:c.275C>G	p.Ser92Cys	p.S92C	ENST00000334670	NM_198692.2	92	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS42962.1	275	MUTECT|MUSE|VARSCANS	.	CACCTCCTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF19,hmmpanther:PTHR23262	.	.	ENSP00000334197	.	1/1	.	.	.	.	.	.	.	.	rs782517144	1/1	PASS	ENST00000334670	Transcript	.	.	ENSG00000243489	20528	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0.04)	.	KR10B_HUMAN	KRTAP10-11	HGNC	.	.	UPI000040FC94	SNV	KRTAP10-11,missense_variant,p.Ser92Cys,ENST00000334670,;TSPEAR,intron_variant,,ENST00000323084,;	320	154	166	SUCCESS
TBR1	10716	.	GRCh37	2	162274553	162274553	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	40	0	ENST00000389554.3:c.848-159A>T		p.*283*	ENST00000389554	NM_006593.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33310.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAATGGC	NONE	.	.	.	.	.	ENSP00000374205	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389554	Transcript	.	.	ENSG00000136535	11590	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBR1_HUMAN	TBR1	HGNC	Q56A81_HUMAN,B0AZS4_HUMAN	.	UPI0000136A99	SNV	TBR1,5_prime_UTR_variant,,ENST00000410035,;TBR1,intron_variant,,ENST00000389554,;TBR1,intron_variant,,ENST00000411412,;AC009487.4,downstream_gene_variant,,ENST00000437683,;AC009487.4,downstream_gene_variant,,ENST00000444164,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,intron_variant,,ENST00000463544,;	.	40	36	SUCCESS
CHRNA1	1134	.	GRCh37	2	175624066	175624066	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	69	193	0	ENST00000261007.5:c.227T>A	p.Leu76Gln	p.L76Q	ENST00000261007	NM_001039523.2	76	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33331.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAGACGC	NONE	.	.	hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000261007	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000261007	Transcript	.	.	ENSG00000138435	1955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ACHA_HUMAN	CHRNA1	HGNC	A9X444_HUMAN	.	UPI000012524E	SNV	CHRNA1,missense_variant,p.Leu76Gln,ENST00000409542,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000409219,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000348749,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000409323,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000261007,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000435083,;	294	193	224	SUCCESS
IDH1	3417	.	GRCh37	2	209113113	209113113	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913499	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	72	229	0	ENST00000345146.2:c.394C>T	p.Arg132Cys	p.R132C	ENST00000345146	NM_005896.2	132	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2381.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGACCTA	SITE|p.R132C|c.394C>T|587,CODON|p.R132H|c.395_396GT>AC|4,CODON|p.R132S|c.394_395CG>TC|6,CODON|p.R132H|c.395G>A|3975,CODON|p.R132L|c.395G>T|82,BUFFER|p.R132S|c.394C>A|145,BUFFER|p.R132G|c.394C>G|164	byCluster	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	4/10	.	.	.	.	.	.	.	.	rs121913499,COSM28749,COSM28747,COSM28748	4/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.907)	.	deleterious_low_confidence(0.03)	0,1,1,1	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Arg132Cys,ENST00000345146,;IDH1,missense_variant,p.Arg132Cys,ENST00000415913,;IDH1,missense_variant,p.Arg132Cys,ENST00000446179,;IDH1,missense_variant,p.Arg132Cys,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	776	229	244	SUCCESS
IGFBP2	3485	.	GRCh37	2	217525341	217525341	+	synonymous_variant	Silent	SNP	C	C	T	rs375741191	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	25	0	ENST00000233809.4:c.504C>T	p.Asn168=	p.N168=	ENST00000233809	NM_000597.2	168	aaC/aaT	0	T:0	.	.	.	.	T	N	protein_coding	YES	CCDS42815.1	504	RADIA|VARSCANS	.	ATGAACATGTT	NONE	byCluster	.	hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF5	.	T:0.0001	ENSP00000233809	.	2/4	.	.	.	.	.	.	.	.	rs375741191	2/4	PASS	ENST00000233809	Transcript	.	.	ENSG00000115457	5471	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IBP2_HUMAN	IGFBP2	HGNC	C9JW52_HUMAN	.	UPI000013C98D	SNV	IGFBP2,synonymous_variant,p.%3D,ENST00000456764,;IGFBP2,synonymous_variant,p.%3D,ENST00000434997,;IGFBP2,synonymous_variant,p.%3D,ENST00000233809,;IGFBP2,upstream_gene_variant,,ENST00000436812,;IGFBP2,non_coding_transcript_exon_variant,,ENST00000490362,;	633	25	39	SUCCESS
USP37	57695	.	GRCh37	2	219423315	219423315	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	260	70	264	0	ENST00000258399.3:c.62del	p.Lys21SerfsTer10	p.K21Sfs*10	ENST00000258399	NM_020935.2	21	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS2418.1	62	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCACTTTGTA	NONE	.	.	.	.	.	ENSP00000258399	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000258399	Transcript	.	.	ENSG00000135913	20063	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP37_HUMAN	USP37	HGNC	.	.	UPI0000160023	deletion	USP37,frameshift_variant,p.Lys21SerfsTer10,ENST00000258399,;USP37,frameshift_variant,p.Lys21SerfsTer10,ENST00000418019,;USP37,frameshift_variant,p.Lys21SerfsTer10,ENST00000454775,;USP37,frameshift_variant,p.Lys21SerfsTer10,ENST00000338465,;USP37,intron_variant,,ENST00000415516,;	475	264	330	SUCCESS
ABCG5	64240	.	GRCh37	2	44053584	44053584	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	52	133	0	ENST00000260645.1:c.711A>C	p.Glu237Asp	p.E237D	ENST00000260645	NM_022436.2	237	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS1814.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTTCCAC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF193,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000260645	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000260645	Transcript	.	.	ENSG00000138075	13886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.21)	.	ABCG5_HUMAN	ABCG5	HGNC	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN	.	UPI0000046560	SNV	ABCG5,missense_variant,p.Glu237Asp,ENST00000260645,;ABCG5,intron_variant,,ENST00000405322,;ABCG5,intron_variant,,ENST00000543989,;ABCG5,intron_variant,,ENST00000486512,;ABCG5,intron_variant,,ENST00000409962,;	851	133	161	SUCCESS
CCDC104	0	.	GRCh37	2	55772122	55772124	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	rs528334905	.	TCGA-CC-5260-01	TCGA-CC-5260-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	167	61	329	0	ENST00000349456.4:c.1013_1015del	p.Glu338del	p.E338del	ENST00000349456		336	aAAGaa/aaa	0	-:0.0007	.	.	.	.	-	KE/K	protein_coding	YES	CCDS1854.2	1007-1009	VARSCANI*|PINDEL	.	AACTCAAAGAAGAA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21532,hmmpanther:PTHR21532:SF0	.	-:0	ENSP00000295117	.	10/10	.	.	.	.	.	.	.	.	rs528334905	10/10	PASS	ENST00000349456	Transcript	.	.	ENSG00000163001	30540	6	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC104_HUMAN	CCDC104	HGNC	.	.	UPI000013E20A	deletion	CCDC104,inframe_deletion,p.Glu363del,ENST00000339012,;CCDC104,inframe_deletion,p.Glu338del,ENST00000349456,;CCDC104,inframe_deletion,p.Glu309del,ENST00000407816,;SMEK2,downstream_gene_variant,,ENST00000345102,;SMEK2,downstream_gene_variant,,ENST00000272313,;SMEK2,downstream_gene_variant,,ENST00000407823,;CCDC104,downstream_gene_variant,,ENST00000490934,;CCDC104,non_coding_transcript_exon_variant,,ENST00000481791,;	1155-1157	329	228	SUCCESS
RGPD2	729857	.	GRCh37	2	88082657	88082660	+	frameshift_variant	Frame_Shift_Del	DEL	TAGA	TAGA	-	rs780703290	.	TCGA-CC-5260-01	TCGA-CC-5260-10	TAGA	TAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	474	77	828	0	ENST00000398146.3:c.3883_3886del	p.Lys1296LeufsTer5	p.K1296Lfs*5	ENST00000398146		1295	TCTAag/ag	0	.	.	.	.	.	-	SK/X	protein_coding	YES	CCDS42710.2	3883-3886	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGACTTAGATAGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000381214	.	20/23	.	.	.	.	.	.	.	.	rs780703290	20/23	PASS	ENST00000398146	Transcript	.	.	ENSG00000185304	32415	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD2_HUMAN	RGPD2	HGNC	Q9NYL8_HUMAN,I1Z9D1_HUMAN,B4DTT2_HUMAN	.	UPI00006C0449	deletion	RGPD2,frameshift_variant,p.Lys1296LeufsTer5,ENST00000398146,;RGPD2,frameshift_variant,p.Lys553LeufsTer5,ENST00000327544,;RGPD2,frameshift_variant,p.Lys1288LeufsTer5,ENST00000420840,;RGPD2,upstream_gene_variant,,ENST00000494592,;	4106-4109	828	551	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111797619	111797619	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759865349	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	55	184	0	ENST00000452346.2:c.2255C>T	p.Ala752Val	p.A752V	ENST00000452346		752	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43129.2	1877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGCGGAGG	NONE	byFrequency	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000411645	.	15/16	.	.	.	.	.	.	.	.	rs759865349	15/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.606)	.	deleterious(0)	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,missense_variant,p.Ala752Val,ENST00000452346,;TMPRSS7,missense_variant,p.Ala626Val,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	1959	184	201	SUCCESS
SEMA5B	54437	.	GRCh37	3	122629075	122629075	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369693926	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	406	198	519	0	ENST00000357599.3:c.3371C>T	p.Thr1124Met	p.T1124M	ENST00000357599	NM_001256348.1	1124	aCg/aTg	0	A:0.0002	.	.	.	.	A	T/M	protein_coding	YES	CCDS58848.1	3533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCGTGTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036	.	A:0	ENSP00000389588	.	23/23	.	.	.	.	.	.	.	.	rs369693926	23/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious_low_confidence(0.01)	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,missense_variant,p.Thr170Met,ENST00000451541,;SEMA5B,missense_variant,p.Thr1124Met,ENST00000357599,;SEMA5B,missense_variant,p.Thr1178Met,ENST00000451055,;SEMA5B,3_prime_UTR_variant,,ENST00000195173,;SEMA5B,downstream_gene_variant,,ENST00000393583,;SEMA5B,3_prime_UTR_variant,,ENST00000475244,;	3544	519	605	SUCCESS
C3orf58	0	.	GRCh37	3	143704410	143704410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	68	214	0	ENST00000315691.3:c.683C>T	p.Pro228Leu	p.P228L	ENST00000315691	NM_173552.3	228	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3130.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCATTTG	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6,Pfam_domain:PF12260	.	.	ENSP00000320081	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,missense_variant,p.Pro34Leu,ENST00000492452,;C3orf58,missense_variant,p.Pro228Leu,ENST00000315691,;C3orf58,missense_variant,p.Pro19Leu,ENST00000495414,;C3orf58,5_prime_UTR_variant,,ENST00000441925,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,non_coding_transcript_exon_variant,,ENST00000483808,;	1218	214	248	SUCCESS
SCN10A	6336	.	GRCh37	3	38830477	38830477	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	94	0	ENST00000449082.2:c.440T>C	p.Met147Thr	p.M147T	ENST00000449082	NM_006514.2	147	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS33736.1	440	RADIA|VARSCANS	.	GGGTCATGCAC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000390600	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.756)	.	deleterious(0)	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Met147Thr,ENST00000449082,;	440	94	36	SUCCESS
BAP1	8314	.	GRCh37	3	52437456	52437456	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	39	0	ENST00000460680.1:c.1705del	p.Val569CysfsTer2	p.V569Cfs*2	ENST00000460680	NM_004656.3	569	Gtg/tg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS2853.1	1705	INDELOCATOR|VARSCANI	.	TCAGCACCCCAT	BUFFER|p.L573fs*3|c.1717_1717delC|3	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,frameshift_variant,p.Val70CysfsTer2,ENST00000478368,;BAP1,frameshift_variant,p.Val551CysfsTer2,ENST00000296288,;BAP1,frameshift_variant,p.Val569CysfsTer2,ENST00000460680,;BAP1,intron_variant,,ENST00000469613,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	2177	39	44	SUCCESS
ZNF518B	85460	.	GRCh37	4	10446101	10446101	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	73	373	1	ENST00000326756.3:c.1852T>A	p.Leu618Ile	p.L618I	ENST00000326756	NM_053042.2	618	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS33960.1	1852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAATTCCA	NONE	.	.	hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032	.	.	ENSP00000317614	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000326756	Transcript	.	.	ENSG00000178163	29365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	deleterious(0.03)	.	Z518B_HUMAN	ZNF518B	HGNC	D6RDM9_HUMAN	.	UPI0000160B97	SNV	ZNF518B,missense_variant,p.Leu618Ile,ENST00000326756,;ZNF518B,downstream_gene_variant,,ENST00000507515,;	2291	374	273	SUCCESS
GYPA	2993	.	GRCh37	4	145039884	145039884	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	263	77	651	0	ENST00000360771.4:c.254A>T	p.His85Leu	p.H85L	ENST00000360771	NM_002099.6	85	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS34069.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGGGCA	NONE	.	.	hmmpanther:PTHR13813:SF0,hmmpanther:PTHR13813,Gene3D:1.20.5.70,Pfam_domain:PF01102,PIRSF_domain:PIRSF002466	.	.	ENSP00000354003	.	4/7	.	.	.	.	.	.	.	.	COSM1539288	4/7	PASS	ENST00000360771	Transcript	1	.	ENSG00000170180	4702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.013)	.	deleterious(0.03)	1	GLPA_HUMAN	GYPA	HGNC	Q9UE44_HUMAN,Q14438_HUMAN	.	UPI000016A9B9	SNV	GYPA,missense_variant,p.His20Leu,ENST00000512789,;GYPA,missense_variant,p.His59Leu,ENST00000535709,;GYPA,missense_variant,p.His53Leu,ENST00000504786,;GYPA,missense_variant,p.His85Leu,ENST00000360771,;GYPA,missense_variant,p.His52Leu,ENST00000324022,;GYPB,intron_variant,,ENST00000283126,;GYPA,intron_variant,,ENST00000503627,;GYPA,intron_variant,,ENST00000512064,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPA,3_prime_UTR_variant,,ENST00000508337,;GYPA,non_coding_transcript_exon_variant,,ENST00000509346,;GYPA,upstream_gene_variant,,ENST00000510771,;GYPA,downstream_gene_variant,,ENST00000514603,;	370	651	340	SUCCESS
FAM53C	51307	.	GRCh37	5	137681062	137681062	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769884886	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	21	0	ENST00000239906.5:c.685C>T	p.Arg229Cys	p.R229C	ENST00000239906	NM_016605.2	229	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS4204.1	685	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCAGCGCCGC	NONE	byFrequency	.	Pfam_domain:PF15242	.	.	ENSP00000239906	.	4/5	.	.	.	.	.	.	.	.	rs769884886	4/5	PASS	ENST00000239906	Transcript	.	.	ENSG00000120709	1336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	FA53C_HUMAN	FAM53C	HGNC	.	.	UPI000006DF45	SNV	FAM53C,missense_variant,p.Arg229Cys,ENST00000434981,;FAM53C,missense_variant,p.Arg229Cys,ENST00000239906,;FAM53C,intron_variant,,ENST00000513056,;FAM53C,downstream_gene_variant,,ENST00000511276,;RP11-256P1.1,downstream_gene_variant,,ENST00000504539,;FAM53C,non_coding_transcript_exon_variant,,ENST00000507506,;FAM53C,downstream_gene_variant,,ENST00000505136,;FAM53C,downstream_gene_variant,,ENST00000512180,;FAM53C,downstream_gene_variant,,ENST00000505768,;FAM53C,downstream_gene_variant,,ENST00000511024,;	1113	21	39	SUCCESS
DRD1	1812	.	GRCh37	5	174870477	174870477	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	238	134	279	0	ENST00000393752.2:c.-375A>T		p.*125*	ENST00000393752	NM_000794.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4393.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGTTGC	NONE	.	.	.	.	.	ENSP00000377353	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000393752	Transcript	.	.	ENSG00000184845	3020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRD1_HUMAN	DRD1	HGNC	.	.	UPI00000503F5	SNV	DRD1,5_prime_UTR_variant,,ENST00000393752,;	619	279	373	SUCCESS
MYB	4602	.	GRCh37	6	135510936	135510936	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	57	0	ENST00000367814.4:c.221C>T	p.Thr74Ile	p.T74I	ENST00000367814	NM_001161659.1	74	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS47481.1	221	RADIA|MUTECT|VARSCANS	.	TCGAACAGATG	NONE	.	.	PROSITE_profiles:PS51294,hmmpanther:PTHR10641:SF454,hmmpanther:PTHR10641,Pfam_domain:PF13921,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000339992	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000341911	Transcript	.	.	ENSG00000118513	7545	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	MYB_HUMAN	MYB	HGNC	Q9UMI7_HUMAN	.	UPI000002AE9A	SNV	MYB,missense_variant,p.Thr74Ile,ENST00000533624,;MYB,missense_variant,p.Thr74Ile,ENST00000527615,;MYB,missense_variant,p.Thr74Ile,ENST00000525369,;MYB,missense_variant,p.Thr74Ile,ENST00000442647,;MYB,missense_variant,p.Thr74Ile,ENST00000528774,;MYB,missense_variant,p.Thr28Ile,ENST00000430686,;MYB,missense_variant,p.Thr74Ile,ENST00000534044,;MYB,missense_variant,p.Thr74Ile,ENST00000534121,;MYB,missense_variant,p.Thr74Ile,ENST00000316528,;MYB,missense_variant,p.Thr74Ile,ENST00000367814,;MYB,missense_variant,p.Thr50Ile,ENST00000420123,;MYB,missense_variant,p.Thr74Ile,ENST00000341911,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,missense_variant,p.Thr74Ile,ENST00000533384,;MYB,missense_variant,p.Thr74Ile,ENST00000526320,;MYB,missense_variant,p.Thr74Ile,ENST00000525514,;MYB,missense_variant,p.Thr74Ile,ENST00000367812,;MYB,missense_variant,p.Thr74Ile,ENST00000339290,;MYB,missense_variant,p.Thr74Ile,ENST00000526187,;MYB,missense_variant,p.Thr74Ile,ENST00000529262,;MYB,missense_variant,p.Thr74Ile,ENST00000525002,;MYB,missense_variant,p.Thr74Ile,ENST00000526565,;MYB,missense_variant,p.Thr74Ile,ENST00000528343,;MYB,missense_variant,p.Thr74Ile,ENST00000529586,;MYB,missense_variant,p.Thr74Ile,ENST00000438901,;MYB,missense_variant,p.Thr74Ile,ENST00000533837,;MYB,missense_variant,p.Thr74Ile,ENST00000463282,;MYB,missense_variant,p.Thr74Ile,ENST00000525477,;MYB,missense_variant,p.Thr50Ile,ENST00000524588,;MYB,missense_variant,p.Thr74Ile,ENST00000533808,;MYB,missense_variant,p.Thr74Ile,ENST00000528140,;MYB,missense_variant,p.Thr74Ile,ENST00000525940,;MYB,missense_variant,p.Thr50Ile,ENST00000528345,;MYB,missense_variant,p.Thr74Ile,ENST00000531519,;MYB,missense_variant,p.Thr74Ile,ENST00000528015,;MYB,missense_variant,p.Thr74Ile,ENST00000526889,;MYB,missense_variant,p.Thr74Ile,ENST00000531634,;MYB,missense_variant,p.Thr74Ile,ENST00000531737,;	420	57	43	SUCCESS
HLA-L	3139	.	GRCh37	6	30231920	30231920	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	56	0	ENST00000463348.1:n.1779G>A		p.*593*	ENST00000463348				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	TAAATGAGGAA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453558	Transcript	.	.	ENSG00000270604	31339	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HCG17	HGNC	.	.	.	SNV	HCG17,intron_variant,,ENST00000453558,;HLA-L,non_coding_transcript_exon_variant,,ENST00000463348,;HLA-L,intron_variant,,ENST00000482052,;HLA-L,downstream_gene_variant,,ENST00000420110,;	.	56	53	SUCCESS
ORC3	23595	.	GRCh37	6	88299863	88299863	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	31	79	0	ENST00000392844.3:c.-24G>A		p.*8*	ENST00000392844	NM_181837.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5012.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGGAATA	NONE	.	.	.	.	.	ENSP00000257789	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000257789	Transcript	.	.	ENSG00000135336	8489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ORC3_HUMAN	ORC3	HGNC	U3KQL3_HUMAN	.	UPI00001B216A	SNV	ORC3,5_prime_UTR_variant,,ENST00000546266,;ORC3,5_prime_UTR_variant,,ENST00000392844,;ORC3,5_prime_UTR_variant,,ENST00000417380,;ORC3,5_prime_UTR_variant,,ENST00000257789,;RARS2,upstream_gene_variant,,ENST00000369536,;ORC3,non_coding_transcript_exon_variant,,ENST00000468486,;	11	79	59	SUCCESS
KLRG2	346689	.	GRCh37	7	139164446	139164446	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138023732	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	27	0	ENST00000340940.4:c.932C>T	p.Ala311Val	p.A311V	ENST00000340940	NM_198508.2	311	gCg/gTg	0	A:0.0005	.	.	.	.	A	A/V	protein_coding	YES	CCDS5854.1	932	MUTECT|MUSE	.	CCTGCGCTTCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF133,hmmpanther:PTHR22800,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	A:0	ENSP00000339356	.	3/5	.	.	.	.	.	.	.	.	rs138023732	3/5	PASS	ENST00000340940	Transcript	.	.	ENSG00000188883	24778	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.026)	.	tolerated(0.23)	.	KLRG2_HUMAN	KLRG2	HGNC	.	.	UPI00001C0C37	SNV	KLRG2,missense_variant,p.Ala311Val,ENST00000340940,;KLRG2,intron_variant,,ENST00000393039,;	1002	27	43	SUCCESS
CHPF2	54480	.	GRCh37	7	150934562	150934562	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139379425	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	55	81	0	ENST00000035307.2:c.1114G>A	p.Val372Met	p.V372M	ENST00000035307	NM_019015.1	372	Gtg/Atg	0	T:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS34779.1	1114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGTGCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12369:SF14,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	T:0.0006	ENSP00000035307	.	4/4	.	.	.	.	.	.	.	.	rs139379425	4/4	PASS	ENST00000035307	Transcript	.	.	ENSG00000033100	29270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0.02)	.	CHPF2_HUMAN	CHPF2	HGNC	.	.	UPI000003F537	SNV	CHPF2,missense_variant,p.Val372Met,ENST00000035307,;CHPF2,missense_variant,p.Val364Met,ENST00000495645,;CHPF2,downstream_gene_variant,,ENST00000482173,;SMARCD3,downstream_gene_variant,,ENST00000262188,;SMARCD3,downstream_gene_variant,,ENST00000392811,;SMARCD3,downstream_gene_variant,,ENST00000356800,;MIR671,upstream_gene_variant,,ENST00000390183,;RP4-548D19.3,upstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,downstream_gene_variant,,ENST00000496530,;CHPF2,3_prime_UTR_variant,,ENST00000465601,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000485592,;SMARCD3,downstream_gene_variant,,ENST00000472988,;SMARCD3,downstream_gene_variant,,ENST00000472103,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000485610,;SMARCD3,downstream_gene_variant,,ENST00000472789,;	2627	81	203	SUCCESS
TWIST1	7291	.	GRCh37	7	19157186	19157186	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	70	0	ENST00000242261.5:c.-242C>A		p.*81*	ENST00000242261	NM_000474.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5367.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGGCTGG	NONE	.	.	.	.	.	ENSP00000242261	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000242261	Transcript	.	.	ENSG00000122691	12428	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TWST1_HUMAN	TWIST1	HGNC	.	.	UPI00001377DC	SNV	TWIST1,5_prime_UTR_variant,,ENST00000242261,;AC003986.7,upstream_gene_variant,,ENST00000417460,;AC003986.6,downstream_gene_variant,,ENST00000419944,;TWIST1,upstream_gene_variant,,ENST00000443687,;TWIST1,upstream_gene_variant,,ENST00000354571,;	110	70	104	SUCCESS
RAB11FIP1	80223	.	GRCh37	8	37756823	37756823	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs763003156	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	20	0	ENST00000330843.4:c.137A>T	p.Gln46Leu	p.Q46L	ENST00000330843	NM_001002814.2	46	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34882.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGGATC	NONE	byFrequency	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22,PROSITE_profiles:PS50004	.	.	ENSP00000331342	.	1/6	.	.	.	.	.	.	.	.	rs763003156	1/6	PASS	ENST00000330843	Transcript	.	.	ENSG00000156675	30265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	deleterious(0)	.	RFIP1_HUMAN	RAB11FIP1	HGNC	.	.	UPI0000D624B1	SNV	RAB11FIP1,missense_variant,p.Gln46Leu,ENST00000287263,;RAB11FIP1,missense_variant,p.Gln46Leu,ENST00000330843,;RAB11FIP1,splice_region_variant,,ENST00000522727,;	150	20	64	SUCCESS
MMP16	4325	.	GRCh37	8	89081578	89081578	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	23	311	0	ENST00000286614.6:c.1222+5255A>G		p.*408*	ENST00000286614	NM_005941.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6246.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTTTCAATT	NONE	.	.	.	.	.	ENSP00000286614	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,intron_variant,,ENST00000286614,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	.	311	157	SUCCESS
MMP16	4325	.	GRCh37	8	89081579	89081579	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	23	316	1	ENST00000286614.6:c.1222+5254G>T		p.*408*	ENST00000286614	NM_005941.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6246.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCAATTC	NONE	.	.	.	.	.	ENSP00000286614	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,intron_variant,,ENST00000286614,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	.	317	156	SUCCESS
MMP16	4325	.	GRCh37	8	89180036	89180036	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	31	170	0	ENST00000286614.6:c.571G>A	p.Gly191Ser	p.G191S	ENST00000286614	NM_005941.4	191	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS6246.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCAGATG	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000286614	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,missense_variant,p.Gly191Ser,ENST00000286614,;MMP16,downstream_gene_variant,,ENST00000522726,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	853	170	126	SUCCESS
TNKS	8658	.	GRCh37	8	9627614	9627614	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	26	0	ENST00000310430.6:c.3741-2A>T		p.X1247_splice	ENST00000310430	NM_003747.2	1247		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5974.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTAGACAA	NONE	.	.	.	.	.	ENSP00000311579	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310430	Transcript	.	.	ENSG00000173273	11941	.	.	HIGH	25/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNKS1_HUMAN	TNKS	HGNC	Q59FX0_HUMAN,E7EQ52_HUMAN	.	UPI000013F00D	SNV	TNKS,splice_acceptor_variant,,ENST00000518281,;TNKS,splice_acceptor_variant,,ENST00000310430,;TNKS,upstream_gene_variant,,ENST00000517770,;	.	26	35	SUCCESS
PALM2AKAP2		.	GRCh37	9	112918686	112918686	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777197311	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	7	86	0	ENST00000259318.7:c.2390G>A	p.Gly797Glu	p.G797E	ENST00000259318	NM_001136562.2	797	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS35100.1	3083	RADIA|MUTECT|VARSCANS	.	TGCCGGAACCC	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10,Pfam_domain:PF15304	.	.	ENSP00000363654	.	9/11	.	.	.	.	.	.	.	.	rs777197311	9/11	PASS	ENST00000374530	Transcript	.	.	ENSG00000157654	33529	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	.	PALM2-AKAP2	HGNC	.	.	UPI0000125755	SNV	PALM2-AKAP2,missense_variant,p.Gly1028Glu,ENST00000374530,;AKAP2,missense_variant,p.Gly886Glu,ENST00000374525,;AKAP2,missense_variant,p.Gly797Glu,ENST00000259318,;AKAP2,missense_variant,p.Gly886Glu,ENST00000434623,;PALM2-AKAP2,missense_variant,p.Gly1028Glu,ENST00000302798,;AKAP2,missense_variant,p.Gly1028Glu,ENST00000510514,;AKAP2,missense_variant,p.Gly1028Glu,ENST00000555236,;AKAP2,non_coding_transcript_exon_variant,,ENST00000485762,;AKAP2,intron_variant,,ENST00000482335,;AKAP2,3_prime_UTR_variant,,ENST00000495980,;	3263	86	69	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123177407	123177407	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767034315	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	26	174	0	ENST00000349780.4:c.4208G>A	p.Arg1403Gln	p.R1403Q	ENST00000349780	NM_018249.5	1403	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6823.1	4208	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCGAATT	SITE|p.R1403Q|c.4208G>A|3	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	28/38	.	.	.	.	.	.	.	.	rs767034315,COSM274488	28/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.885)	.	deleterious(0)	0,1	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,missense_variant,p.Arg797Gln,ENST00000416449,;CDK5RAP2,missense_variant,p.Arg1403Gln,ENST00000349780,;CDK5RAP2,missense_variant,p.Arg1371Gln,ENST00000360822,;CDK5RAP2,missense_variant,p.Arg413Gln,ENST00000425647,;CDK5RAP2,missense_variant,p.Arg1403Gln,ENST00000360190,;CDK5RAP2,missense_variant,p.Arg1362Gln,ENST00000359309,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	4388	174	241	SUCCESS
MAPKAP1	79109	.	GRCh37	9	128230302	128230302	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766806809	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	323	28	332	0	ENST00000265960.3:c.1294A>G	p.Ile432Val	p.I432V	ENST00000265960	NM_001006617.1	432	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS35140.1	1294	MUTECT|MUSE	.	ATCGATTGAGA	NONE	.	.	Pfam_domain:PF05422,hmmpanther:PTHR13335	.	.	ENSP00000265960	.	10/12	.	.	.	.	.	.	.	.	rs766806809	10/12	PASS	ENST00000265960	Transcript	.	.	ENSG00000119487	18752	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.28)	.	SIN1_HUMAN	MAPKAP1	HGNC	B1AMB1_HUMAN,B1AMA6_HUMAN	.	UPI00000372F6	SNV	MAPKAP1,missense_variant,p.Ile240Val,ENST00000373503,;MAPKAP1,missense_variant,p.Ile432Val,ENST00000373498,;MAPKAP1,missense_variant,p.Ile204Val,ENST00000420643,;MAPKAP1,missense_variant,p.Ile240Val,ENST00000394063,;MAPKAP1,missense_variant,p.Ile396Val,ENST00000350766,;MAPKAP1,missense_variant,p.Ile432Val,ENST00000265960,;MAPKAP1,missense_variant,p.Ile385Val,ENST00000373511,;MAPKAP1,missense_variant,p.Ile145Val,ENST00000373497,;MAPKAP1,intron_variant,,ENST00000444226,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000483937,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496063,;MAPKAP1,missense_variant,p.Ile204Val,ENST00000497932,;	1627	332	351	SUCCESS
FBXO10	26267	.	GRCh37	9	37518350	37518350	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	237	23	168	1	ENST00000432825.2:c.2286G>A	p.Val762=	p.V762=	ENST00000432825	NM_012166.2	762	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS47966.1	2286	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCACAGT	NONE	.	.	hmmpanther:PTHR22990,Pfam_domain:PF05048,Gene3D:2.160.20.10,SMART_domains:SM00710,SMART_domains:SM00722,Superfamily_domains:SSF51126	.	.	ENSP00000403802	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000432825	Transcript	.	.	ENSG00000147912	13589	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBX10_HUMAN	FBXO10	HGNC	Q08AL4_HUMAN,F5GXN9_HUMAN	.	UPI00001C1EC6	SNV	FBXO10,synonymous_variant,p.%3D,ENST00000432825,;FBXO10,synonymous_variant,p.%3D,ENST00000541829,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000541804,;FBXO10,downstream_gene_variant,,ENST00000543968,;FBXO10,downstream_gene_variant,,ENST00000544208,;FBXO10,3_prime_UTR_variant,,ENST00000276960,;	2335	169	261	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43822776	43822776	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	116	0	ENST00000377561.2:n.1476G>T		p.*492*	ENST00000377561		444		0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS55312.1	1330	RADIA|VARSCANS	.	TCACAGCAGGT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000366787	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.196)	.	tolerated(0.3)	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,missense_variant,p.Ala444Ser,ENST00000377564,;CNTNAP3B,downstream_gene_variant,,ENST00000276974,;CNTNAP3B,missense_variant,p.Ala444Ser,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;	1723	116	74	SUCCESS
RP11-262H14.1	0	.	GRCh37	9	66468976	66468976	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs59225165	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	9	0	ENST00000424345.1:n.2543G>A		p.*848*	ENST00000424345				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	GCAGGGAGGAA	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	rs59225165	5/5	PASS	ENST00000424345	Transcript	.	.	ENSG00000238113	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-262H14.1	Clone_based_vega_gene	.	.	.	SNV	RP11-262H14.1,non_coding_transcript_exon_variant,,ENST00000424345,;RP11-262H14.1,downstream_gene_variant,,ENST00000427509,;AL512625.1,upstream_gene_variant,,ENST00000366256,;	2543	9	21	SUCCESS
KANK1	23189	.	GRCh37	9	738429	738429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374492770	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	66	177	0	ENST00000382297.2:c.3478G>A	p.Gly1160Ser	p.G1160S	ENST00000382297	NM_001256877.1	1160	Ggc/Agc	0	A:0	.	.	.	.	A	G/S	protein_coding	YES	CCDS34976.1	3478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGCAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	A:0.0001	ENSP00000371740	.	12/16	.	.	.	.	.	.	.	.	rs374492770	12/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.02)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Gly79Ser,ENST00000382286,;KANK1,missense_variant,p.Gly1002Ser,ENST00000382293,;KANK1,missense_variant,p.Gly1160Ser,ENST00000382303,;KANK1,missense_variant,p.Gly160Ser,ENST00000382289,;KANK1,missense_variant,p.Gly1160Ser,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,downstream_gene_variant,,ENST00000354485,;	4130	177	203	SUCCESS
TMC1	117531	.	GRCh37	9	75355074	75355074	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	59	233	0	ENST00000297784.5:c.402T>A	p.Leu134=	p.L134=	ENST00000297784	NM_138691.2	134	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6643.1	402	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTGGGAA	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18	.	.	ENSP00000297784	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000297784	Transcript	.	.	ENSG00000165091	16513	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMC1_HUMAN	TMC1	HGNC	.	.	UPI0000161FA9	SNV	TMC1,synonymous_variant,p.%3D,ENST00000297784,;TMC1,synonymous_variant,p.%3D,ENST00000340019,;TMC1,synonymous_variant,p.%3D,ENST00000396237,;RP11-28P17.3,downstream_gene_variant,,ENST00000447672,;	942	234	246	SUCCESS
GPR82	27197	.	GRCh37	X	41586732	41586732	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	169	0	ENST00000302548.4:c.453T>A	p.Phe151Leu	p.F151L	ENST00000302548	NM_080817.4	151	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS14259.1	453	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTGCTAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000303549	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302548	Transcript	.	.	ENSG00000171657	4533	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	GPR82_HUMAN	GPR82	HGNC	.	.	UPI000003BCD1	SNV	GPR82,missense_variant,p.Phe151Leu,ENST00000302548,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;GPR82,upstream_gene_variant,,ENST00000497180,;	693	169	94	SUCCESS
SMC1A	8243	.	GRCh37	X	53409455	53409455	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	29	104	0	ENST00000322213.4:c.3257A>T	p.Lys1086Met	p.K1086M	ENST00000322213	NM_001281463.1	1086	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS14352.1	3257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTTATAG	NONE	.	.	hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170,Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719	.	.	ENSP00000323421	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000322213	Transcript	.	.	ENSG00000072501	11111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SMC1A_HUMAN	SMC1A	HGNC	.	.	UPI0000135A4D	SNV	SMC1A,missense_variant,p.Lys183Met,ENST00000470241,;SMC1A,missense_variant,p.Lys1086Met,ENST00000322213,;SMC1A,non_coding_transcript_exon_variant,,ENST00000469129,;	3385	104	111	SUCCESS
NLGN4X	57502	.	GRCh37	X	5821679	5821679	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	341	153	347	0	ENST00000275857.6:c.1040A>G	p.Asp347Gly	p.D347G	ENST00000275857	NM_020742.2	347	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS14126.1	1040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGTCGCCG	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559,Low_complexity_(Seg):seg	.	.	ENSP00000370485	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Asp347Gly,ENST00000381092,;NLGN4X,missense_variant,p.Asp347Gly,ENST00000381095,;NLGN4X,missense_variant,p.Asp367Gly,ENST00000381093,;NLGN4X,missense_variant,p.Asp347Gly,ENST00000538097,;NLGN4X,missense_variant,p.Asp347Gly,ENST00000275857,;NLGN4X,upstream_gene_variant,,ENST00000477079,;	1668	348	494	SUCCESS
SLC16A2	6567	.	GRCh37	X	73641483	73641483	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	20	0	ENST00000587091.1:c.11A>T	p.Gln4Leu	p.Q4L	ENST00000587091	NM_006517.4	4	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS14426.2	11	RADIA|VARSCANS	.	GCTGCAAAGCC	NONE	.	.	.	.	.	ENSP00000465734	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000587091	Transcript	.	.	ENSG00000147100	10923	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.069)	.	tolerated_low_confidence(0.13)	.	MOT8_HUMAN	SLC16A2	HGNC	.	.	UPI000019C3D5	SNV	SLC16A2,missense_variant,p.Gln4Leu,ENST00000587091,;SLC16A2,missense_variant,p.Gln78Leu,ENST00000276033,;	188	20	39	SUCCESS
MGEA5	0	.	GRCh37	10	103550822	103550822	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	204	56	210	0	ENST00000361464.3:c.2285T>A	p.Leu762His	p.L762H	ENST00000361464	NM_012215.3	762	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7520.1	2285	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGAGGGAA	NONE	.	.	Superfamily_domains:SSF55729,Gene3D:3.40.630.30,hmmpanther:PTHR13170,hmmpanther:PTHR13170:SF16	.	.	ENSP00000354850	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000361464	Transcript	.	.	ENSG00000198408	7056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	deleterious(0.03)	.	NCOAT_HUMAN	MGEA5	HGNC	B3KMK2_HUMAN	.	UPI0000073533	SNV	MGEA5,missense_variant,p.Leu709His,ENST00000439817,;MGEA5,missense_variant,p.Leu695His,ENST00000357797,;MGEA5,missense_variant,p.Leu762His,ENST00000361464,;MGEA5,non_coding_transcript_exon_variant,,ENST00000461645,;MGEA5,non_coding_transcript_exon_variant,,ENST00000479811,;MGEA5,non_coding_transcript_exon_variant,,ENST00000482611,;MGEA5,intron_variant,,ENST00000494347,;MGEA5,upstream_gene_variant,,ENST00000462994,;MGEA5,downstream_gene_variant,,ENST00000492204,;	2681	210	260	SUCCESS
INPP5F	22876	.	GRCh37	10	121556404	121556404	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753033639	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	57	192	0	ENST00000361976.2:c.847C>T	p.Arg283Cys	p.R283C	ENST00000361976	NM_014937.3	283	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7616.1	847	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCACGCCGA	NONE	.	.	PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF129,Pfam_domain:PF02383	.	.	ENSP00000354519	.	7/20	.	.	.	.	.	.	.	.	rs753033639	7/20	PASS	ENST00000361976	Transcript	.	.	ENSG00000198825	17054	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	SAC2_HUMAN	INPP5F	HGNC	.	.	UPI000006FBCA	SNV	INPP5F,missense_variant,p.Arg283Cys,ENST00000369083,;INPP5F,missense_variant,p.Arg283Cys,ENST00000361976,;INPP5F,downstream_gene_variant,,ENST00000369081,;	1013	192	278	SUCCESS
TACC2	10579	.	GRCh37	10	123843041	123843041	+	synonymous_variant	Silent	SNP	G	G	T	rs201912981	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	73	0	ENST00000334433.3:c.1026G>T	p.Pro342=	p.P342=	ENST00000334433		342	ccG/ccT	0	.	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS7626.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCACGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	A:0	.	ENSP00000358001	A:0	4/23	.	.	.	.	.	.	.	.	rs201912981	4/23	PASS	ENST00000369005	Transcript	.	A:0.0004	ENSG00000138162	11523	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,synonymous_variant,p.%3D,ENST00000453444,;TACC2,synonymous_variant,p.%3D,ENST00000369005,;TACC2,synonymous_variant,p.%3D,ENST00000334433,;TACC2,synonymous_variant,p.%3D,ENST00000515603,;TACC2,synonymous_variant,p.%3D,ENST00000515273,;TACC2,intron_variant,,ENST00000358010,;TACC2,intron_variant,,ENST00000513429,;TACC2,downstream_gene_variant,,ENST00000491540,;TACC2,downstream_gene_variant,,ENST00000498721,;	1366	73	65	SUCCESS
PRF1	5551	.	GRCh37	10	72358776	72358776	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs775670991	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	89	0	ENST00000373209.2:c.701C>A	p.Ser234Ter	p.S234*	ENST00000373209		234	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS7305.1	701	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGATATG	NONE	byFrequency	.	PROSITE_profiles:PS51412,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000398568	.	3/3	.	.	.	.	.	.	.	.	rs775670991	3/3	PASS	ENST00000441259	Transcript	1	.	ENSG00000180644	9360	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PERF_HUMAN	PRF1	HGNC	S5S2F2_HUMAN,S5RDP5_HUMAN	.	UPI000013162B	SNV	PRF1,stop_gained,p.Ser234Ter,ENST00000373209,;PRF1,stop_gained,p.Ser234Ter,ENST00000441259,;	862	89	64	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72468471	72468471	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	26	112	0	ENST00000373207.1:c.807C>G	p.Asp269Glu	p.D269E	ENST00000373207	NM_080722.3	269	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS7307.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGACTCGGT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000362304	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,missense_variant,p.Asp269Glu,ENST00000373208,;ADAMTS14,missense_variant,p.Asp269Glu,ENST00000373207,;	807	112	101	SUCCESS
ELMOD1	55531	.	GRCh37	11	107518278	107518278	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	36	150	0	ENST00000265840.7:c.506del	p.Pro169LeufsTer47	p.P169Lfs*47	ENST00000265840	NM_018712.3	169	Cct/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS44723.1	505	INDELOCATOR*|VARSCANI*|PINDEL	.	GATGATCCTAAA	NONE	.	.	Pfam_domain:PF04727,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF18,PROSITE_profiles:PS51335	.	.	ENSP00000265840	.	7/12	.	.	.	.	.	.	.	.	COSM3443092	7/12	PASS	ENST00000265840	Transcript	.	.	ENSG00000110675	25334	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ELMD1_HUMAN	ELMOD1	HGNC	E9PLM8_HUMAN	.	UPI000006DF30	deletion	ELMOD1,frameshift_variant,p.Pro169LeufsTer67,ENST00000443271,;ELMOD1,frameshift_variant,p.Pro163LeufsTer47,ENST00000531234,;ELMOD1,frameshift_variant,p.Pro169LeufsTer47,ENST00000265840,;AP000889.1,upstream_gene_variant,,ENST00000530968,;	770	150	189	SUCCESS
EI24	9538	.	GRCh37	11	125448940	125448940	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	14	135	0	ENST00000278903.6:c.537G>T	p.Leu179Phe	p.L179F	ENST00000278903	NM_004879.3	179	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	.	537	MUTECT|MUSE|VARSCANS	.	CTTTTGCTGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21389:SF0,hmmpanther:PTHR21389,Pfam_domain:PF07264	.	.	ENSP00000278903	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000278903	Transcript	.	.	ENSG00000149547	13276	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	EI24_HUMAN	EI24	HGNC	E9PM05_HUMAN,E9PL33_HUMAN	.	UPI00015E00C2	SNV	EI24,missense_variant,p.Leu179Phe,ENST00000278903,;EI24,missense_variant,p.Leu179Phe,ENST00000343678,;EI24,missense_variant,p.Leu179Phe,ENST00000527842,;EI24,downstream_gene_variant,,ENST00000527520,;EI24,downstream_gene_variant,,ENST00000527131,;EI24,downstream_gene_variant,,ENST00000524723,;RNU6-1156P,downstream_gene_variant,,ENST00000410365,;STT3A-AS1,intron_variant,,ENST00000530526,;STT3A-AS1,intron_variant,,ENST00000532714,;EI24,non_coding_transcript_exon_variant,,ENST00000527675,;EI24,non_coding_transcript_exon_variant,,ENST00000531350,;EI24,non_coding_transcript_exon_variant,,ENST00000534430,;EI24,non_coding_transcript_exon_variant,,ENST00000530985,;EI24,non_coding_transcript_exon_variant,,ENST00000535422,;EI24,non_coding_transcript_exon_variant,,ENST00000527628,;EI24,downstream_gene_variant,,ENST00000531636,;EI24,non_coding_transcript_exon_variant,,ENST00000525737,;EI24,non_coding_transcript_exon_variant,,ENST00000534546,;EI24,downstream_gene_variant,,ENST00000529765,;EI24,upstream_gene_variant,,ENST00000530540,;EI24,downstream_gene_variant,,ENST00000527235,;	779	135	164	SUCCESS
KIF18A	81930	.	GRCh37	11	28116264	28116264	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs772116453	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	40	207	0	ENST00000263181.6:c.409A>C	p.Met137Leu	p.M137L	ENST00000263181	NM_031217.3	137	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS7867.1	409	RADIA|MUTECT|MUSE|VARSCANS	.	TAACATTGTTA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF399,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000263181	.	3/17	.	.	.	.	.	.	.	.	rs772116453	3/17	PASS	ENST00000263181	Transcript	.	.	ENSG00000121621	29441	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	deleterious(0.04)	.	KI18A_HUMAN	KIF18A	HGNC	.	.	UPI0000037CCC	SNV	KIF18A,missense_variant,p.Met137Leu,ENST00000263181,;KIF18A,non_coding_transcript_exon_variant,,ENST00000533466,;KIF18A,downstream_gene_variant,,ENST00000526288,;	700	207	245	SUCCESS
KBTBD4	55709	.	GRCh37	11	47600412	47600412	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	93	0	ENST00000395288.2:c.-62G>T		p.*21*	ENST00000395288	NM_016506.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44594.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCTAGGC	NONE	.	.	.	.	.	ENSP00000415106	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000430070	Transcript	.	.	ENSG00000123444	23761	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KBTB4_HUMAN	KBTBD4	HGNC	E9PJY1_HUMAN,E9PJ66_HUMAN	.	UPI0000D4DDB6	SNV	KBTBD4,5_prime_UTR_variant,,ENST00000395288,;KBTBD4,5_prime_UTR_variant,,ENST00000529499,;KBTBD4,5_prime_UTR_variant,,ENST00000526005,;KBTBD4,intron_variant,,ENST00000534239,;KBTBD4,intron_variant,,ENST00000529946,;KBTBD4,intron_variant,,ENST00000430070,;NDUFS3,upstream_gene_variant,,ENST00000530295,;NDUFS3,upstream_gene_variant,,ENST00000529276,;NDUFS3,upstream_gene_variant,,ENST00000528192,;NDUFS3,upstream_gene_variant,,ENST00000534208,;KBTBD4,upstream_gene_variant,,ENST00000531067,;KBTBD4,upstream_gene_variant,,ENST00000533290,;KBTBD4,upstream_gene_variant,,ENST00000525720,;NDUFS3,upstream_gene_variant,,ENST00000534716,;KBTBD4,downstream_gene_variant,,ENST00000450908,;NDUFS3,upstream_gene_variant,,ENST00000263774,;RNU5E-10P,upstream_gene_variant,,ENST00000363506,;NDUFS3,intron_variant,,ENST00000533507,;NDUFS3,upstream_gene_variant,,ENST00000527178,;NDUFS3,upstream_gene_variant,,ENST00000531351,;NDUFS3,upstream_gene_variant,,ENST00000525212,;KBTBD4,intron_variant,,ENST00000530668,;NDUFS3,upstream_gene_variant,,ENST00000524568,;NDUFS3,upstream_gene_variant,,ENST00000525378,;NDUFS3,upstream_gene_variant,,ENST00000533105,;	.	93	84	SUCCESS
KIAA1033	0	.	GRCh37	12	105538197	105538197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	302	64	326	0	ENST00000332180.5:c.2143C>A	p.Pro715Thr	p.P715T	ENST00000332180	NM_015275.1	715	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS41826.1	2143	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCCAATT	NONE	.	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14744	.	.	ENSP00000328062	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000332180	Transcript	.	.	ENSG00000136051	29174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	SNV	KIAA1033,missense_variant,p.Pro715Thr,ENST00000332180,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,upstream_gene_variant,,ENST00000548534,;KIAA1033,upstream_gene_variant,,ENST00000550613,;	2230	326	367	SUCCESS
WBP11	51729	.	GRCh37	12	14943652	14943652	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	275	59	280	0	ENST00000261167.2:c.1047A>G	p.Val349=	p.V349=	ENST00000261167	NM_016312.2	349	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS8666.1	1047	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTACTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361	.	.	ENSP00000261167	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000261167	Transcript	.	.	ENSG00000084463	16461	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WBP11_HUMAN	WBP11	HGNC	F5GXS9_HUMAN,B4DMD3_HUMAN	.	UPI0000035FC2	SNV	WBP11,synonymous_variant,p.%3D,ENST00000261167,;WBP11,3_prime_UTR_variant,,ENST00000535638,;	1281	280	334	SUCCESS
SYT10	341359	.	GRCh37	12	33592365	33592365	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	11	117	0	ENST00000228567.3:c.93G>A	p.Trp31Ter	p.W31*	ENST00000228567	NM_198992.3	31	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS8732.1	93	MUTECT|MUSE|VARSCANS	.	TTCTCCCACTC	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46	.	.	ENSP00000228567	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000228567	Transcript	.	.	ENSG00000110975	19266	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYT10_HUMAN	SYT10	HGNC	F5H2A8_HUMAN	.	UPI0000052B30	SNV	SYT10,stop_gained,p.Trp31Ter,ENST00000228567,;SYT10,5_prime_UTR_variant,,ENST00000535526,;SYT10,stop_gained,p.Trp31Ter,ENST00000539102,;	390	117	115	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42858905	42858905	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	35	140	0	ENST00000345127.3:c.931G>C	p.Asp311His	p.D311H	ENST00000345127	NM_153026.2	311	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS8742.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTCTTCAC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14	.	.	ENSP00000401060	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,missense_variant,p.Asp311His,ENST00000345127,;PRICKLE1,missense_variant,p.Asp311His,ENST00000455697,;PRICKLE1,missense_variant,p.Asp311His,ENST00000445766,;PRICKLE1,missense_variant,p.Asp311His,ENST00000552240,;PRICKLE1,missense_variant,p.Asp311His,ENST00000548696,;PRICKLE1,downstream_gene_variant,,ENST00000547113,;PRICKLE1,downstream_gene_variant,,ENST00000551050,;PRICKLE1,downstream_gene_variant,,ENST00000552108,;RP11-328C8.4,non_coding_transcript_exon_variant,,ENST00000547824,;	1217	140	137	SUCCESS
STAT2	6773	.	GRCh37	12	56742939	56742954	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCCCCTACCTGAAGGT	TCCCCTACCTGAAGGT	-	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	TCCCCTACCTGAAGGT	TCCCCTACCTGAAGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	71	0	ENST00000314128.4:c.1433_1440+8del		p.X478_splice	ENST00000314128		478		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8917.1	1433-?	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCACTCCCCTACCTGAAGGTTTGGG	NONE	.	.	.	.	.	ENSP00000315768	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000314128	Transcript	.	.	ENSG00000170581	11363	.	.	HIGH	16/23	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAT2_HUMAN	STAT2	HGNC	R9QG81_HUMAN,R9QE65_HUMAN,Q6LD48_HUMAN	.	UPI00000473FC	deletion	STAT2,splice_donor_variant,,ENST00000557235,;STAT2,splice_donor_variant,,ENST00000314128,;STAT2,intron_variant,,ENST00000418572,;RNU7-40P,downstream_gene_variant,,ENST00000516397,;STAT2,splice_donor_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557156,;STAT2,downstream_gene_variant,,ENST00000557252,;STAT2,downstream_gene_variant,,ENST00000555519,;STAT2,downstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557199,;STAT2,upstream_gene_variant,,ENST00000555488,;	1457-?	71	91	SUCCESS
A2ML1	144568	.	GRCh37	12	9027104	9027104	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	86	0	ENST00000299698.7:c.4305C>T	p.Val1435=	p.V1435=	ENST00000299698	NM_144670.4	1435	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8596.2	4305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTCTATGA	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412,Pfam_domain:PF07677,Gene3D:1ayoA00,Superfamily_domains:SSF49410	.	.	ENSP00000299698	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,synonymous_variant,p.%3D,ENST00000299698,;A2ML1,synonymous_variant,p.%3D,ENST00000541459,;A2ML1,synonymous_variant,p.%3D,ENST00000539547,;A2ML1,synonymous_variant,p.%3D,ENST00000537475,;	4485	86	91	SUCCESS
AMER2	219287	.	GRCh37	13	25743761	25743761	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	89	0	ENST00000515384.1:c.1997A>G	p.Asp666Gly	p.D666G	ENST00000515384		666	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS53859.1	1997	MUTECT|MUSE	.	CACTGTCGTGG	NONE	.	.	hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237	.	.	ENSP00000426528	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000515384	Transcript	.	.	ENSG00000165566	26360	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.958)	.	tolerated(0.07)	.	AMER2_HUMAN	AMER2	HGNC	Q8N785_HUMAN	.	UPI0000231C76	SNV	AMER2,missense_variant,p.Asp666Gly,ENST00000515384,;AMER2,missense_variant,p.Asp547Gly,ENST00000357816,;AMER2,missense_variant,p.Asp547Gly,ENST00000381853,;AMER2-AS1,downstream_gene_variant,,ENST00000413501,;	2665	89	50	SUCCESS
PAN3	255967	.	GRCh37	13	28794510	28794510	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775770672	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	81	0	ENST00000380958.3:c.995C>T	p.Ala332Val	p.A332V	ENST00000380958	NM_175854.7	332	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9329.2	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGCGCCAG	NONE	byFrequency	.	hmmpanther:PTHR12272	.	.	ENSP00000370345	.	6/19	.	.	.	.	.	.	.	.	rs775770672,COSM3399312,COSM3399311	6/19	PASS	ENST00000380958	Transcript	.	.	ENSG00000152520	29991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.551)	.	tolerated(0.05)	0,1,1	PAN3_HUMAN	PAN3	HGNC	Q6ZMN5_HUMAN	.	UPI0001BE8112	SNV	PAN3,missense_variant,p.Ala132Val,ENST00000399613,;PAN3,missense_variant,p.Ala332Val,ENST00000380958,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;EEF1A1P3,downstream_gene_variant,,ENST00000417549,;	1147	81	111	SUCCESS
OR4N5	390437	.	GRCh37	14	20612277	20612277	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139546094	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	89	311	0	ENST00000333629.1:c.383G>A	p.Arg128Gln	p.R128Q	ENST00000333629	NM_001004724.1	128	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS32031.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGGCCTT	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	A:0	ENSP00000332110	.	1/1	.	.	.	.	.	.	.	.	rs139546094,COSM3793543	1/1	PASS	ENST00000333629	Transcript	.	.	ENSG00000184394	15358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(0.16)	0,1	OR4N5_HUMAN	OR4N5	HGNC	.	.	UPI0000041C40	SNV	OR4N5,missense_variant,p.Arg128Gln,ENST00000333629,;RNA5SP381,downstream_gene_variant,,ENST00000516076,;	383	312	374	SUCCESS
KHNYN	23351	.	GRCh37	14	24905604	24905604	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs748839802	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	88	0	ENST00000251343.5:c.1696T>G	p.Phe566Val	p.F566V	ENST00000251343		566	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS32058.1	1696	MUTECT|VARSCANS	.	TGCCCTTTACC	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28,Pfam_domain:PF11977	.	.	ENSP00000251343	.	7/8	.	.	.	.	.	.	.	.	rs748839802	7/8	PASS	ENST00000251343	Transcript	.	.	ENSG00000100441	20166	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KHNYN_HUMAN	KHNYN	HGNC	G3V3G3_HUMAN,G3V331_HUMAN	.	UPI000000CC1F	SNV	KHNYN,missense_variant,p.Phe566Val,ENST00000556842,;KHNYN,missense_variant,p.Phe566Val,ENST00000553935,;KHNYN,missense_variant,p.Phe11Val,ENST00000554268,;KHNYN,missense_variant,p.Phe566Val,ENST00000251343,;SDR39U1,downstream_gene_variant,,ENST00000399390,;SDR39U1,downstream_gene_variant,,ENST00000556523,;SDR39U1,downstream_gene_variant,,ENST00000555225,;SDR39U1,downstream_gene_variant,,ENST00000554698,;SDR39U1,downstream_gene_variant,,ENST00000555355,;KHNYN,downstream_gene_variant,,ENST00000556510,;SDR39U1,downstream_gene_variant,,ENST00000555365,;SDR39U1,downstream_gene_variant,,ENST00000556249,;SDR39U1,downstream_gene_variant,,ENST00000553343,;SDR39U1,downstream_gene_variant,,ENST00000538105,;SDR39U1,downstream_gene_variant,,ENST00000399395,;SDR39U1,downstream_gene_variant,,ENST00000553930,;SDR39U1,downstream_gene_variant,,ENST00000555830,;SDR39U1,downstream_gene_variant,,ENST00000555561,;KHNYN,non_coding_transcript_exon_variant,,ENST00000556255,;SDR39U1,downstream_gene_variant,,ENST00000554947,;SDR39U1,downstream_gene_variant,,ENST00000553546,;SDR39U1,downstream_gene_variant,,ENST00000556175,;SDR39U1,downstream_gene_variant,,ENST00000555778,;SDR39U1,downstream_gene_variant,,ENST00000556548,;SDR39U1,downstream_gene_variant,,ENST00000556707,;SDR39U1,downstream_gene_variant,,ENST00000544691,;SDR39U1,downstream_gene_variant,,ENST00000556262,;	1835	88	81	SUCCESS
ADAM10	102	.	GRCh37	15	58902701	58902701	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	21	94	0	ENST00000260408.3:c.1820G>T	p.Cys607Phe	p.C607F	ENST00000260408	NM_001110.2	607	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS10167.1	1820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACAAGTT	NONE	.	.	hmmpanther:PTHR11905:SF113,hmmpanther:PTHR11905	.	.	ENSP00000260408	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000260408	Transcript	1	.	ENSG00000137845	188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA10_HUMAN	ADAM10	HGNC	.	.	UPI00001254C8	SNV	ADAM10,missense_variant,p.Cys306Phe,ENST00000396140,;ADAM10,missense_variant,p.Cys607Phe,ENST00000260408,;ADAM10,intron_variant,,ENST00000402627,;ADAM10,intron_variant,,ENST00000561288,;ADAM10,downstream_gene_variant,,ENST00000475898,;ADAM10,3_prime_UTR_variant,,ENST00000396136,;ADAM10,non_coding_transcript_exon_variant,,ENST00000482945,;ADAM10,non_coding_transcript_exon_variant,,ENST00000470269,;ADAM10,downstream_gene_variant,,ENST00000462061,;ADAM10,downstream_gene_variant,,ENST00000481164,;	2264	94	105	SUCCESS
CSPG4	1464	.	GRCh37	15	75983035	75983035	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775706392	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	50	195	0	ENST00000308508.5:c.371C>T	p.Ser124Leu	p.S124L	ENST00000308508	NM_001897.4	124	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS10284.1	371	RADIA|MUTECT|MUSE|VARSCANS	.	CGACTGACAAC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF00054,hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11,PROSITE_profiles:PS50025	.	.	ENSP00000312506	.	3/10	.	.	.	.	.	.	.	.	rs775706392	3/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.09)	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,missense_variant,p.Ser124Leu,ENST00000308508,;	464	195	227	SUCCESS
IGF1R	3480	.	GRCh37	15	99251033	99251033	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	25	125	0	ENST00000268035.6:c.337T>C	p.Tyr113His	p.Y113H	ENST00000268035	NM_000875.3	113	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS10378.1	337	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTACAAC	NONE	.	.	Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Pfam_domain:PF01030,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416	.	.	ENSP00000268035	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	tolerated(0.06)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Tyr113His,ENST00000558762,;IGF1R,missense_variant,p.Tyr113His,ENST00000268035,;IGF1R,upstream_gene_variant,,ENST00000558355,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;	948	125	155	SUCCESS
IGF1R	3480	.	GRCh37	15	99459277	99459277	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs144533252	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	30	194	0	ENST00000268035.6:c.1913A>G	p.Asn638Ser	p.N638S	ENST00000268035	NM_000875.3	638	aAc/aGc	0	G:0	.	.	.	.	G	N/S	protein_coding	YES	CCDS10378.1	1913	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAACGGCA	NONE	byCluster	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	G:0.0001	ENSP00000268035	.	9/21	.	.	.	.	.	.	.	.	rs144533252	9/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Asn638Ser,ENST00000558762,;IGF1R,missense_variant,p.Asn638Ser,ENST00000268035,;IGF1R,downstream_gene_variant,,ENST00000558898,;IGF1R,downstream_gene_variant,,ENST00000559582,;IGF1R,synonymous_variant,p.%3D,ENST00000560144,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000561049,;	2524	194	229	SUCCESS
LRRC28	123355	.	GRCh37	15	99796167	99796167	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs539126226	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	18	125	0	ENST00000301981.3:c.5C>T	p.Ala2Val	p.A2V	ENST00000301981	NM_144598.2	2	gCg/gTg	0	.	A:0	.	A:0	.	T	A/V	protein_coding	YES	CCDS10380.1	5	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCGTCCG	NONE	by1000G	.	.	A:0	.	ENSP00000304923	A:0.001	2/10	.	.	.	.	.	.	.	.	rs539126226	2/10	PASS	ENST00000301981	Transcript	.	A:0.0002	ENSG00000168904	28355	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.273)	A:0	deleterious_low_confidence(0.02)	.	LRC28_HUMAN	LRRC28	HGNC	Q8NB41_HUMAN,H0YNW4_HUMAN,H0YKF6_HUMAN,B4DK22_HUMAN	.	UPI000000DBCB	SNV	LRRC28,missense_variant,p.Ala2Val,ENST00000558172,;LRRC28,missense_variant,p.Ala2Val,ENST00000558879,;LRRC28,missense_variant,p.Ala2Val,ENST00000447360,;LRRC28,missense_variant,p.Ala2Val,ENST00000442993,;LRRC28,missense_variant,p.Ala2Val,ENST00000301981,;LRRC28,missense_variant,p.Ala2Val,ENST00000558861,;LRRC28,missense_variant,p.Arg8Cys,ENST00000561276,;LRRC28,missense_variant,p.Ala2Val,ENST00000422500,;LRRC28,missense_variant,p.Ala2Val,ENST00000331450,;TTC23,upstream_gene_variant,,ENST00000561365,;TTC23,upstream_gene_variant,,ENST00000560279,;TTC23,upstream_gene_variant,,ENST00000394135,;TTC23,upstream_gene_variant,,ENST00000394129,;TTC23,upstream_gene_variant,,ENST00000558663,;AC022819.1,upstream_gene_variant,,ENST00000581052,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558500,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559399,;LRRC28,missense_variant,p.Ala2Val,ENST00000558471,;LRRC28,missense_variant,p.Ala2Val,ENST00000559433,;LRRC28,missense_variant,p.Ala2Val,ENST00000561253,;LRRC28,non_coding_transcript_exon_variant,,ENST00000560213,;HSP90B2P,upstream_gene_variant,,ENST00000559111,;	245	125	171	SUCCESS
DNAH3	55567	.	GRCh37	16	21031159	21031159	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	311	84	439	0	ENST00000261383.3:c.5809G>A	p.Glu1937Lys	p.E1937K	ENST00000261383	NM_017539.1	1937	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10594.1	5809	RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCCATTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	41/62	.	.	.	.	.	.	.	.	COSM3507275,COSM3507274	41/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.097)	.	tolerated(0.87)	1,1	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Glu1937Lys,ENST00000261383,;DNAH3,3_prime_UTR_variant,,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572931,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;	5809	439	395	SUCCESS
ZNF768	79724	.	GRCh37	16	30536127	30536127	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	66	0	ENST00000380412.5:c.1334C>G	p.Ala445Gly	p.A445G	ENST00000380412	NM_024671.3	445	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS10681.2	1334	MUTECT|MUSE	.	GGATGGCCAGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF208,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000369777	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380412	Transcript	.	.	ENSG00000169957	26273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.633)	.	tolerated_low_confidence(0.11)	.	ZN768_HUMAN	ZNF768	HGNC	H3BS42_HUMAN	.	UPI00001FFEED	SNV	ZNF768,missense_variant,p.Ala414Gly,ENST00000562803,;ZNF768,missense_variant,p.Ala445Gly,ENST00000380412,;ZNF747,downstream_gene_variant,,ENST00000535210,;ITGAL,downstream_gene_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000358164,;ITGAL,downstream_gene_variant,,ENST00000356798,;ZNF747,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	1510	66	53	SUCCESS
FBXL19	54620	.	GRCh37	16	30939817	30939817	+	synonymous_variant	Silent	SNP	G	G	A	rs747165398	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	102	0	ENST00000380310.2:c.717G>A	p.Lys239=	p.K239=	ENST00000380310	NM_001099784.2	239	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS45465.1	717	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGAAGGT	NONE	.	.	hmmpanther:PTHR23125:SF254,hmmpanther:PTHR23125	.	.	ENSP00000369666	.	6/11	.	.	.	.	.	.	.	.	rs747165398	6/11	PASS	ENST00000380310	Transcript	.	.	ENSG00000099364	25300	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FXL19_HUMAN	FBXL19	HGNC	H3BVB1_HUMAN,H3BQP6_HUMAN,H3BPZ0_HUMAN	.	UPI00015C725E	SNV	FBXL19,synonymous_variant,p.%3D,ENST00000565690,;FBXL19,synonymous_variant,p.%3D,ENST00000427128,;FBXL19,synonymous_variant,p.%3D,ENST00000380310,;FBXL19,synonymous_variant,p.%3D,ENST00000562319,;FBXL19,synonymous_variant,p.%3D,ENST00000338343,;FBXL19,5_prime_UTR_variant,,ENST00000471231,;FBXL19,downstream_gene_variant,,ENST00000562798,;	875	102	100	SUCCESS
STUB1	10273	.	GRCh37	16	732214	732214	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs587777345	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	86	0	ENST00000219548.4:c.719T>C	p.Met240Thr	p.M240T	ENST00000219548	NM_005861.2	240	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS10419.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATGCGGG	NONE	.	.	PROSITE_profiles:PS51698,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF305,Pfam_domain:PF04564,Gene3D:3.30.40.10,SMART_domains:SM00504,Superfamily_domains:SSF57850	.	.	ENSP00000219548	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000219548	Transcript	.	.	ENSG00000103266	11427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHIP_HUMAN	STUB1	HGNC	.	.	UPI000006E1B4	SNV	STUB1,missense_variant,p.Met168Thr,ENST00000565677,;STUB1,missense_variant,p.Met240Thr,ENST00000219548,;STUB1,missense_variant,p.Met94Thr,ENST00000564316,;STUB1,missense_variant,p.Met168Thr,ENST00000564370,;STUB1,missense_variant,p.Met146Thr,ENST00000566408,;JMJD8,3_prime_UTR_variant,,ENST00000609261,;JMJD8,3_prime_UTR_variant,,ENST00000454700,;JMJD8,3_prime_UTR_variant,,ENST00000293882,;JMJD8,3_prime_UTR_variant,,ENST00000412368,;JMJD8,downstream_gene_variant,,ENST00000562111,;JMJD8,downstream_gene_variant,,ENST00000562824,;STUB1,downstream_gene_variant,,ENST00000567173,;RHBDL1,downstream_gene_variant,,ENST00000352681,;RHBDL1,downstream_gene_variant,,ENST00000561556,;WDR24,downstream_gene_variant,,ENST00000293883,;RHBDL1,downstream_gene_variant,,ENST00000219551,;WDR24,downstream_gene_variant,,ENST00000248142,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,downstream_gene_variant,,ENST00000566181,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;STUB1,non_coding_transcript_exon_variant,,ENST00000569248,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568313,;STUB1,upstream_gene_variant,,ENST00000565813,;JMJD8,downstream_gene_variant,,ENST00000565258,;JMJD8,downstream_gene_variant,,ENST00000569396,;JMJD8,downstream_gene_variant,,ENST00000563088,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000566199,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,downstream_gene_variant,,ENST00000570037,;WDR24,downstream_gene_variant,,ENST00000567014,;STUB1,downstream_gene_variant,,ENST00000567790,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000564436,;JMJD8,downstream_gene_variant,,ENST00000567901,;	969	86	52	SUCCESS
TEKT3	64518	.	GRCh37	17	15211984	15211984	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs747437138	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	147	0	ENST00000338696.2:c.1253T>A	p.Leu418Gln	p.L418Q	ENST00000338696		418	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11169.1	1253	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTAGCTGA	NONE	.	.	hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF24,Pfam_domain:PF03148,Prints_domain:PR00511	.	.	ENSP00000379263	.	8/9	.	.	.	.	.	.	.	.	rs747437138	8/9	PASS	ENST00000395930	Transcript	.	.	ENSG00000125409	14293	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.739)	.	tolerated(0.19)	.	TEKT3_HUMAN	TEKT3	HGNC	F5H5M8_HUMAN,F5H4K1_HUMAN,F5H115_HUMAN,F5GZV8_HUMAN	.	UPI0000136BAB	SNV	TEKT3,missense_variant,p.Leu418Gln,ENST00000395930,;TEKT3,missense_variant,p.Leu418Gln,ENST00000338696,;TEKT3,downstream_gene_variant,,ENST00000539245,;RNU6-799P,upstream_gene_variant,,ENST00000363567,;TEKT3,upstream_gene_variant,,ENST00000462175,;TEKT3,3_prime_UTR_variant,,ENST00000395931,;TEKT3,non_coding_transcript_exon_variant,,ENST00000578011,;	1440	147	95	SUCCESS
NAGLU	4669	.	GRCh37	17	40696106	40696106	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	60	0	ENST00000225927.2:c.2082G>A	p.Gln694=	p.Q694=	ENST00000225927	NM_000263.3	694	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS11427.1	2082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGCACCA	NONE	.	.	hmmpanther:PTHR12872,Pfam_domain:PF12972	.	.	ENSP00000225927	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000225927	Transcript	.	.	ENSG00000108784	7632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANAG_HUMAN	NAGLU	HGNC	.	.	UPI000013C885	SNV	NAGLU,synonymous_variant,p.%3D,ENST00000225927,;NAGLU,3_prime_UTR_variant,,ENST00000591587,;NAGLU,downstream_gene_variant,,ENST00000586516,;NAGLU,downstream_gene_variant,,ENST00000592454,;RP11-400F19.8,intron_variant,,ENST00000585572,;HSD17B1P1,upstream_gene_variant,,ENST00000590052,;	2183	60	53	SUCCESS
ATXN7L3	56970	.	GRCh37	17	42275454	42275454	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs527632818	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	7	115	0	ENST00000389384.4:c.-16C>G		p.*6*	ENST00000389384	NM_001098833.1			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS45697.1	.	MUTECT|MUSE	.	TTGTGGAGACG	NONE	by1000G	16	.	C:0.001	.	ENSP00000397259	C:0	.	.	.	.	.	.	.	.	.	rs527632818	.	PASS	ENST00000454077	Transcript	.	C:0.0002	ENSG00000087152	25416	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	AT7L3_HUMAN	ATXN7L3	HGNC	K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN	.	UPI00001613AC	SNV	ATXN7L3,5_prime_UTR_variant,,ENST00000590169,;ATXN7L3,5_prime_UTR_variant,,ENST00000589805,;ATXN7L3,5_prime_UTR_variant,,ENST00000587097,;ATXN7L3,5_prime_UTR_variant,,ENST00000389384,;ATXN7L3,upstream_gene_variant,,ENST00000591295,;ATXN7L3,upstream_gene_variant,,ENST00000454077,;ATXN7L3,upstream_gene_variant,,ENST00000590537,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,intron_variant,,ENST00000593073,;ATXN7L3,upstream_gene_variant,,ENST00000587022,;ATXN7L3,upstream_gene_variant,,ENST00000589607,;ATXN7L3,upstream_gene_variant,,ENST00000591807,;ATXN7L3,upstream_gene_variant,,ENST00000586688,;	.	115	102	SUCCESS
RSAD1	55316	.	GRCh37	17	48557383	48557383	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	130	0	ENST00000258955.2:c.412C>G	p.Pro138Ala	p.P138A	ENST00000258955	NM_018346.1	138	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS11569.1	412	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCGGGC	NONE	.	.	hmmpanther:PTHR13932:SF5,hmmpanther:PTHR13932,TIGRFAM_domain:TIGR00539,Gene3D:2qgqB01,Pfam_domain:PF04055,SMART_domains:SM00729,Superfamily_domains:SSF102114	.	.	ENSP00000258955	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000258955	Transcript	.	.	ENSG00000136444	25634	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.32)	.	RSAD1_HUMAN	RSAD1	HGNC	K7EKD3_HUMAN	.	UPI0000070E2E	SNV	RSAD1,missense_variant,p.Pro138Ala,ENST00000258955,;RSAD1,downstream_gene_variant,,ENST00000510554,;RSAD1,non_coding_transcript_exon_variant,,ENST00000443328,;RSAD1,intron_variant,,ENST00000515221,;RSAD1,intron_variant,,ENST00000504284,;RSAD1,upstream_gene_variant,,ENST00000513650,;RSAD1,upstream_gene_variant,,ENST00000506211,;RSAD1,upstream_gene_variant,,ENST00000509398,;	497	130	109	SUCCESS
NLRP1	22861	.	GRCh37	17	5433881	5433881	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	14	106	0	ENST00000572272.1:c.3440T>C	p.Val1147Ala	p.V1147A	ENST00000572272		1147	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS42246.1	3440	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCACCATC	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Pfam_domain:PF13553	.	.	ENSP00000460475	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000572272	Transcript	.	.	ENSG00000091592	14374	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	tolerated(0.06)	.	NALP1_HUMAN	NLRP1	HGNC	I3L2G5_HUMAN,I3L0S2_HUMAN	.	UPI0000038309	SNV	NLRP1,missense_variant,p.Val1147Ala,ENST00000572272,;NLRP1,missense_variant,p.Val1147Ala,ENST00000345221,;NLRP1,missense_variant,p.Val1147Ala,ENST00000269280,;NLRP1,missense_variant,p.Val1117Ala,ENST00000354411,;NLRP1,missense_variant,p.Val1117Ala,ENST00000577119,;NLRP1,missense_variant,p.Val1151Ala,ENST00000262467,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Val1151Ala,ENST00000544378,;NLRP1,3_prime_UTR_variant,,ENST00000571451,;	3440	106	93	SUCCESS
MRC2	9902	.	GRCh37	17	60744895	60744895	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	31	0	ENST00000303375.5:c.1117+1G>T		p.X373_splice	ENST00000303375	NM_006039.4	373		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11634.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGTGAGC	NONE	.	.	.	.	.	ENSP00000307513	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	HIGH	6/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,splice_donor_variant,,ENST00000303375,;MRC2,splice_donor_variant,,ENST00000584265,;	.	31	22	SUCCESS
STRADA	92335	.	GRCh37	17	61788154	61788154	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756995943	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	22	94	0	ENST00000336174.6:c.391G>T	p.Val131Leu	p.V131L	ENST00000336174	NM_001003787.2	131	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS32703.1	391	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACGATAT	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361,PROSITE_profiles:PS50011	.	.	ENSP00000336655	.	7/13	.	.	.	.	.	.	.	.	rs756995943	7/13	PASS	ENST00000336174	Transcript	.	.	ENSG00000266173	30172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(1)	.	STRAA_HUMAN	STRADA	HGNC	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN	.	UPI000013CBBE	SNV	STRADA,missense_variant,p.Val102Leu,ENST00000582137,;STRADA,missense_variant,p.Val131Leu,ENST00000336174,;STRADA,missense_variant,p.Val73Leu,ENST00000245865,;STRADA,missense_variant,p.Val73Leu,ENST00000579340,;STRADA,missense_variant,p.Val28Leu,ENST00000578801,;STRADA,missense_variant,p.Val94Leu,ENST00000392950,;STRADA,missense_variant,p.Val73Leu,ENST00000580338,;STRADA,missense_variant,p.Val73Leu,ENST00000375840,;STRADA,missense_variant,p.Val3Leu,ENST00000578008,;STRADA,missense_variant,p.Val87Leu,ENST00000447001,;STRADA,downstream_gene_variant,,ENST00000582030,;STRADA,downstream_gene_variant,,ENST00000579549,;STRADA,downstream_gene_variant,,ENST00000580288,;STRADA,downstream_gene_variant,,ENST00000584110,;STRADA,non_coding_transcript_exon_variant,,ENST00000581505,;STRADA,non_coding_transcript_exon_variant,,ENST00000580039,;STRADA,downstream_gene_variant,,ENST00000579350,;STRADA,3_prime_UTR_variant,,ENST00000581243,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,non_coding_transcript_exon_variant,,ENST00000577375,;STRADA,downstream_gene_variant,,ENST00000579318,;STRADA,upstream_gene_variant,,ENST00000583085,;	504	94	120	SUCCESS
SCN4A	6329	.	GRCh37	17	62018994	62018994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	104	0	ENST00000435607.1:c.4648C>A	p.Pro1550Thr	p.P1550T	ENST00000435607	NM_000334.4	1550	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45761.1	4648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGCCCGC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000396320	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000435607	Transcript	.	.	ENSG00000007314	10591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	SCN4A_HUMAN	SCN4A	HGNC	Q9H3L9_HUMAN	.	UPI0000201254	SNV	SCN4A,missense_variant,p.Pro1550Thr,ENST00000435607,;SCN4A,missense_variant,p.Pro1550Thr,ENST00000578147,;	4725	104	75	SUCCESS
KIF19	124602	.	GRCh37	17	72350550	72350550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	38	0	ENST00000389916.4:c.2558C>A	p.Ala853Asp	p.A853D	ENST00000389916	NM_153209.3	853	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS32718.2	2558	MUTECT|MUSE	.	CGAGGCCCCGT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402	.	.	ENSP00000374566	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.09)	.	tolerated(0.18)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ala853Asp,ENST00000389916,;AC103809.2,upstream_gene_variant,,ENST00000599136,;BTBD17,downstream_gene_variant,,ENST00000375366,;KIF19,downstream_gene_variant,,ENST00000551294,;KIF19,downstream_gene_variant,,ENST00000549637,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000547389,;	2696	38	27	SUCCESS
POLR2A	5430	.	GRCh37	17	7404886	7404886	+	synonymous_variant	Silent	SNP	A	A	G	rs140982359	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	79	0	ENST00000322644.6:c.2187A>G	p.Pro729=	p.P729=	ENST00000322644	NM_000937.4	729	ccA/ccG	0	G:0	.	.	.	.	G	P	protein_coding	YES	CCDS32548.1	2187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCAGGGAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19376:SF33,hmmpanther:PTHR19376,Pfam_domain:PF05000,Superfamily_domains:SSF64484	.	G:0.0001	ENSP00000314949	.	14/29	.	.	.	.	.	.	.	.	rs140982359	14/29	PASS	ENST00000322644	Transcript	.	.	ENSG00000181222	9187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPB1_HUMAN	POLR2A	HGNC	.	.	UPI0000140EB9	SNV	POLR2A,synonymous_variant,p.%3D,ENST00000322644,;POLR2A,downstream_gene_variant,,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000576718,;POLR2A,upstream_gene_variant,,ENST00000574158,;POLR2A,upstream_gene_variant,,ENST00000576114,;POLR2A,downstream_gene_variant,,ENST00000576952,;POLR2A,downstream_gene_variant,,ENST00000575547,;	2586	79	91	SUCCESS
POLR2A	5430	.	GRCh37	17	7404887	7404887	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	81	0	ENST00000322644.6:c.2188G>T	p.Gly730Trp	p.G730W	ENST00000322644	NM_000937.4	730	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS32548.1	2188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGGAAC	NONE	.	.	hmmpanther:PTHR19376:SF33,hmmpanther:PTHR19376,Pfam_domain:PF05000,Superfamily_domains:SSF64484	.	.	ENSP00000314949	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000322644	Transcript	.	.	ENSG00000181222	9187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	RPB1_HUMAN	POLR2A	HGNC	.	.	UPI0000140EB9	SNV	POLR2A,missense_variant,p.Gly730Trp,ENST00000322644,;POLR2A,downstream_gene_variant,,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000576718,;POLR2A,upstream_gene_variant,,ENST00000574158,;POLR2A,upstream_gene_variant,,ENST00000576114,;POLR2A,downstream_gene_variant,,ENST00000576952,;POLR2A,downstream_gene_variant,,ENST00000575547,;	2587	81	92	SUCCESS
RPTOR	57521	.	GRCh37	17	78704429	78704429	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	114	0	ENST00000306801.3:c.577G>A	p.Val193Ile	p.V193I	ENST00000306801	NM_020761.2	193	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS11773.1	577	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGTCTAC	NONE	.	.	hmmpanther:PTHR12848,Pfam_domain:PF14538,Prints_domain:PR01547	.	.	ENSP00000307272	.	5/34	.	.	.	.	.	.	.	.	COSM48466	5/34	PASS	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.992)	.	deleterious(0.01)	1	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,missense_variant,p.Val193Ile,ENST00000570891,;RPTOR,missense_variant,p.Val8Ile,ENST00000537330,;RPTOR,missense_variant,p.Val193Ile,ENST00000544334,;RPTOR,missense_variant,p.Val193Ile,ENST00000306801,;RPTOR,non_coding_transcript_exon_variant,,ENST00000572733,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;RPTOR,3_prime_UTR_variant,,ENST00000574767,;	939	114	107	SUCCESS
EPG5	57724	.	GRCh37	18	43532588	43532588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	318	62	314	0	ENST00000282041.5:c.1030A>G	p.Lys344Glu	p.K344E	ENST00000282041	NM_020964.2	344	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS11926.2	1030	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTCACTT	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	3/44	.	.	.	.	.	.	.	.	.	3/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.051)	.	deleterious(0.01)	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,missense_variant,p.Lys344Glu,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	1065	314	381	SUCCESS
DCC	1630	.	GRCh37	18	49867099	49867099	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	23	145	0	ENST00000442544.2:c.-59C>A		p.*20*	ENST00000442544	NM_005215.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11952.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCATGTG	NONE	.	.	.	.	.	ENSP00000389140	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,5_prime_UTR_variant,,ENST00000442544,;RP11-25O3.1,upstream_gene_variant,,ENST00000582700,;	558	145	132	SUCCESS
NOTCH3	4854	.	GRCh37	19	15297927	15297927	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	33	190	0	ENST00000263388.2:c.1829C>A	p.Ser610Tyr	p.S610Y	ENST00000263388	NM_000435.2	610	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS12326.1	1829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGAAGGG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	11/33	.	.	.	.	.	.	.	.	.	11/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Ser610Tyr,ENST00000263388,;NOTCH3,missense_variant,p.Ser609Tyr,ENST00000601011,;	1905	190	145	SUCCESS
CD22	933	.	GRCh37	19	35823581	35823581	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1161076737	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	38	151	0	ENST00000085219.5:c.166T>C	p.Phe56Leu	p.F56L	ENST00000085219	NM_001771.3	56	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS12457.1	166	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTTCATC	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000085219	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000085219	Transcript	.	.	ENSG00000012124	1643	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	CD22_HUMAN	CD22	HGNC	Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN	.	UPI000012733D	SNV	CD22,missense_variant,p.Phe56Leu,ENST00000595780,;CD22,missense_variant,p.Phe56Leu,ENST00000598537,;CD22,missense_variant,p.Phe56Leu,ENST00000341773,;CD22,missense_variant,p.Phe54Leu,ENST00000600131,;CD22,missense_variant,p.Phe56Leu,ENST00000594250,;CD22,missense_variant,p.Phe56Leu,ENST00000593867,;CD22,missense_variant,p.Phe54Leu,ENST00000600424,;CD22,missense_variant,p.Phe56Leu,ENST00000544992,;CD22,missense_variant,p.Phe56Leu,ENST00000085219,;CD22,missense_variant,p.Phe56Leu,ENST00000599811,;CD22,missense_variant,p.Phe56Leu,ENST00000536635,;CD22,missense_variant,p.Phe54Leu,ENST00000597916,;CD22,5_prime_UTR_variant,,ENST00000270311,;CD22,5_prime_UTR_variant,,ENST00000419549,;U62631.5,downstream_gene_variant,,ENST00000597110,;CD22,non_coding_transcript_exon_variant,,ENST00000597433,;CD22,non_coding_transcript_exon_variant,,ENST00000598138,;CD22,non_coding_transcript_exon_variant,,ENST00000601732,;CD22,non_coding_transcript_exon_variant,,ENST00000595419,;CD22,non_coding_transcript_exon_variant,,ENST00000601414,;CD22,non_coding_transcript_exon_variant,,ENST00000600905,;CD22,intron_variant,,ENST00000601329,;CD22,intron_variant,,ENST00000598815,;CD22,intron_variant,,ENST00000598028,;CD22,missense_variant,p.Phe54Leu,ENST00000601769,;CD22,missense_variant,p.Phe45Leu,ENST00000594349,;CD22,3_prime_UTR_variant,,ENST00000599717,;CD22,non_coding_transcript_exon_variant,,ENST00000602224,;CD22,non_coding_transcript_exon_variant,,ENST00000596492,;CD22,intron_variant,,ENST00000600655,;CD22,downstream_gene_variant,,ENST00000599799,;CD22,downstream_gene_variant,,ENST00000594954,;	232	151	208	SUCCESS
WDR87	83889	.	GRCh37	19	38378259	38378259	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	588	134	564	0	ENST00000303868.5:c.5935G>T	p.Glu1979Ter	p.E1979*	ENST00000303868	NM_031951.3	1979	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS46063.1	5935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCAACCA	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,stop_gained,p.Glu2018Ter,ENST00000447313,;WDR87,stop_gained,p.Glu1979Ter,ENST00000303868,;	6160	564	723	SUCCESS
CIC	23152	.	GRCh37	19	42797899	42797899	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	31	0	ENST00000575354.2:c.3951C>A	p.Asp1317Glu	p.D1317E	ENST00000575354	NM_015125.3	1317	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS12601.1	3951	MUTECT|MUSE	.	GGGGACACCCC	NONE	.	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	.	.	ENSP00000458663	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,missense_variant,p.Asp31Glu,ENST00000576505,;CIC,missense_variant,p.Asp1317Glu,ENST00000575354,;CIC,missense_variant,p.Asp47Glu,ENST00000573349,;CIC,missense_variant,p.Asp2224Glu,ENST00000572681,;CIC,missense_variant,p.Asp1315Glu,ENST00000160740,;PAFAH1B3,downstream_gene_variant,,ENST00000262890,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;	3991	31	21	SUCCESS
CIC	23152	.	GRCh37	19	42797912	42797912	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	35	0	ENST00000575354.2:c.3964A>C	p.Lys1322Gln	p.K1322Q	ENST00000575354	NM_015125.3	1322	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS12601.1	3964	MUTECT|MUSE	.	AGCGCAAGGAG	NONE	.	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	.	.	ENSP00000458663	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.95)	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,missense_variant,p.Lys36Gln,ENST00000576505,;CIC,missense_variant,p.Lys1322Gln,ENST00000575354,;CIC,missense_variant,p.Lys52Gln,ENST00000573349,;CIC,missense_variant,p.Lys2229Gln,ENST00000572681,;CIC,missense_variant,p.Lys1320Gln,ENST00000160740,;PAFAH1B3,downstream_gene_variant,,ENST00000262890,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;CIC,missense_variant,p.Lys4Gln,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;	4004	35	19	SUCCESS
ZNF221	7638	.	GRCh37	19	44471487	44471487	+	synonymous_variant	Silent	SNP	A	A	C	rs778188700	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	64	0	ENST00000587682.1:c.1833A>C	p.Leu611=	p.L611=	ENST00000587682		611	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12633.1	1833	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTATGTGG	NONE	byFrequency	.	.	.	.	ENSP00000251269	.	6/6	.	.	.	.	.	.	.	.	rs778188700	6/6	PASS	ENST00000251269	Transcript	.	.	ENSG00000159905	13014	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN221_HUMAN	ZNF221	HGNC	Q16646_HUMAN,K7EIT6_HUMAN	.	UPI000013CCF3	SNV	ZNF221,synonymous_variant,p.%3D,ENST00000592350,;ZNF221,synonymous_variant,p.%3D,ENST00000587682,;ZNF221,synonymous_variant,p.%3D,ENST00000251269,;ZNF155,upstream_gene_variant,,ENST00000590411,;ZNF221,downstream_gene_variant,,ENST00000591168,;	2161	64	91	SUCCESS
LRG1	116844	.	GRCh37	19	4538064	4538064	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1272629422	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	80	0	ENST00000306390.6:c.932A>G	p.Tyr311Cys	p.Y311C	ENST00000306390	NM_052972.2	311	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS12130.1	932	RADIA|MUTECT|MUSE|VARSCANS	.	AACGATAGAGG	NONE	.	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF25,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000302621	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306390	Transcript	.	.	ENSG00000171236	29480	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.17)	.	A2GL_HUMAN	LRG1	HGNC	B4E1I8_HUMAN	.	UPI0000125014	SNV	LRG1,missense_variant,p.Tyr311Cys,ENST00000306390,;SEMA6B,downstream_gene_variant,,ENST00000586965,;PLIN5,upstream_gene_variant,,ENST00000381848,;PLIN5,upstream_gene_variant,,ENST00000588887,;SEMA6B,downstream_gene_variant,,ENST00000301293,;PLIN5,upstream_gene_variant,,ENST00000592610,;SEMA6B,downstream_gene_variant,,ENST00000586582,;PLIN5,upstream_gene_variant,,ENST00000586133,;LRG1,downstream_gene_variant,,ENST00000586883,;CTB-50L17.14,intron_variant,,ENST00000586020,;PLIN5,upstream_gene_variant,,ENST00000590350,;	1393	80	91	SUCCESS
KLK12	43849	.	GRCh37	19	51537883	51537883	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs766784921	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	77	1	ENST00000319590.4:c.-6C>T		p.*2*	ENST00000319590	NM_145894.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12820.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTGGGTCACT	NONE	byFrequency	.	.	.	.	ENSP00000250351	.	2/7	.	.	.	.	.	.	.	.	rs766784921	2/7	PASS	ENST00000250351	Transcript	.	.	ENSG00000186474	6360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLK12_HUMAN	KLK12	HGNC	.	.	UPI000002ACDD	SNV	KLK12,5_prime_UTR_variant,,ENST00000250352,;KLK12,5_prime_UTR_variant,,ENST00000529888,;KLK12,5_prime_UTR_variant,,ENST00000250351,;KLK12,5_prime_UTR_variant,,ENST00000525263,;KLK12,5_prime_UTR_variant,,ENST00000319590,;CTC-518B2.9,downstream_gene_variant,,ENST00000594910,;KLK12,5_prime_UTR_variant,,ENST00000530943,;KLK12,5_prime_UTR_variant,,ENST00000531374,;KLK12,5_prime_UTR_variant,,ENST00000526824,;	112	79	84	SUCCESS
ZNF331	55422	.	GRCh37	19	54080469	54080469	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	23	129	0	ENST00000253144.9:c.655G>T	p.Asp219Tyr	p.D219Y	ENST00000253144	NM_018555.5	219	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS33102.1	655	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGACTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000253144	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000253144	Transcript	.	.	ENSG00000130844	15489	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN331_HUMAN	ZNF331	HGNC	Q8NBU2_HUMAN,Q71QC9_HUMAN,Q71QC6_HUMAN,Q71QC5_HUMAN,Q71QC3_HUMAN,Q6PK05_HUMAN,E7EWU7_HUMAN,E7EV14_HUMAN,E7ETJ5_HUMAN,E7ERM8_HUMAN,E7EPT0_HUMAN,E7EPG5_HUMAN,E7ENR0_HUMAN,D6RH27_HUMAN	.	UPI0000039DC3	SNV	ZNF331,missense_variant,p.Asp219Tyr,ENST00000512387,;ZNF331,missense_variant,p.Asp219Tyr,ENST00000511593,;ZNF331,missense_variant,p.Asp219Tyr,ENST00000411977,;ZNF331,missense_variant,p.Asp219Tyr,ENST00000449416,;ZNF331,missense_variant,p.Asp219Tyr,ENST00000513999,;ZNF331,missense_variant,p.Asp219Tyr,ENST00000511154,;ZNF331,missense_variant,p.Asp219Tyr,ENST00000253144,;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000514374,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000511567,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000504493,;	1988	129	140	SUCCESS
LILRB4	11006	.	GRCh37	19	55175420	55175420	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	393	90	498	0	ENST00000391736.1:c.279A>T	p.Ala93=	p.A93=	ENST00000391736	NM_001278430.2	93	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12902.1	279	RADIA|MUTECT|MUSE|VARSCANS	.	TATGCAGGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000375616	.	5/14	.	.	.	.	.	.	.	.	COSM359365	5/14	PASS	ENST00000391736	Transcript	.	.	ENSG00000186818	6608	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	LIRB4_HUMAN	LILRB4	HGNC	.	.	UPI000013D889	SNV	LILRB4,synonymous_variant,p.%3D,ENST00000434286,;LILRB4,synonymous_variant,p.%3D,ENST00000270452,;LILRB4,synonymous_variant,p.%3D,ENST00000391733,;LILRB4,synonymous_variant,p.%3D,ENST00000391736,;LILRB4,synonymous_variant,p.%3D,ENST00000391734,;LILRB4,synonymous_variant,p.%3D,ENST00000430952,;LILRB4,non_coding_transcript_exon_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,upstream_gene_variant,,ENST00000470943,;	594	498	483	SUCCESS
MUC16	94025	.	GRCh37	19	9020787	9020787	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	229	63	295	0	ENST00000397910.4:c.37315G>T	p.Gly12439Cys	p.G12439C	ENST00000397910	NM_024690.2	12439	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS54212.1	37315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCAGAGT	NONE	.	.	Superfamily_domains:0047452,SMART_domains:SM00200,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	20/84	.	.	.	.	.	.	.	.	.	20/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Gly12439Cys,ENST00000397910,;	37519	295	292	SUCCESS
PRDM2	7799	.	GRCh37	1	14075887	14075887	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754403875	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	38	0	ENST00000235372.7:c.416G>T	p.Trp139Leu	p.W139L	ENST00000235372	NM_012231.4	139	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS150.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTGGTACA	NONE	.	.	Superfamily_domains:SSF82199,SMART_domains:SM00317,PIRSF_domain:PIRSF002395,Gene3D:2.170.270.10,Pfam_domain:PF00856,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,PROSITE_profiles:PS50280	.	.	ENSP00000235372	.	6/10	.	.	.	.	.	.	.	.	rs754403875	6/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.558)	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,missense_variant,p.Trp139Leu,ENST00000311066,;PRDM2,missense_variant,p.Trp130Leu,ENST00000484063,;PRDM2,missense_variant,p.Trp139Leu,ENST00000376048,;PRDM2,missense_variant,p.Trp139Leu,ENST00000235372,;PRDM2,upstream_gene_variant,,ENST00000505823,;PRDM2,upstream_gene_variant,,ENST00000343137,;PRDM2,upstream_gene_variant,,ENST00000413440,;PRDM2,upstream_gene_variant,,ENST00000503842,;PRDM2,upstream_gene_variant,,ENST00000407521,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502724,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502727,;PRDM2,3_prime_UTR_variant,,ENST00000491134,;PRDM2,upstream_gene_variant,,ENST00000491815,;	1272	38	49	SUCCESS
C1orf68	100129271	.	GRCh37	1	152692577	152692577	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	42	219	0	ENST00000368775.2:c.580A>T	p.Asn194Tyr	p.N194Y	ENST00000368775	NM_001024679.2	194	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS44226.1	580	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCAACACA	BUFFER|p.S197S|c.591A>G|3	.	.	hmmpanther:PTHR23263:SF4,hmmpanther:PTHR23263	.	.	ENSP00000357764	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368775	Transcript	.	.	ENSG00000198854	29468	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.913)	.	deleterious_low_confidence(0)	.	XP32_HUMAN	C1orf68	HGNC	.	.	UPI00001C1D9F	SNV	C1orf68,missense_variant,p.Asn194Tyr,ENST00000368775,;	580	219	280	SUCCESS
LCE1C	353133	.	GRCh37	1	152777757	152777757	+	synonymous_variant	Silent	SNP	T	T	A	rs565723067	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	17	134	0	ENST00000607093.1:c.198A>T	p.Gly66=	p.G66=	ENST00000607093		66	ggA/ggT	0	.	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS1026.1	198	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATCCCCC	SITE|p.G66G|c.198A>T|3	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Pfam_domain:PF14672	A:0.001	.	ENSP00000357757	A:0	2/2	.	.	.	.	.	.	.	.	rs565723067,COSM404380	2/2	PASS	ENST00000368768	Transcript	.	A:0.0002	ENSG00000197084	29464	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0	.	0,1	LCE1C_HUMAN	LCE1C	HGNC	.	.	UPI0000140B0A	SNV	LCE1C,synonymous_variant,p.%3D,ENST00000606576,;LCE1C,synonymous_variant,p.%3D,ENST00000607093,;LCE1C,synonymous_variant,p.%3D,ENST00000368768,;	249	134	126	SUCCESS
OR6Y1	391112	.	GRCh37	1	158517119	158517119	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	29	139	0	ENST00000302617.3:c.777G>T	p.Met259Ile	p.M259I	ENST00000302617	NM_001005189.1	259	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS30899.1	777	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCATGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302617	Transcript	.	.	ENSG00000197532	14823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	deleterious(0)	.	OR6Y1_HUMAN	OR6Y1	HGNC	.	.	UPI000004B1E2	SNV	OR6Y1,missense_variant,p.Met259Ile,ENST00000302617,;	777	139	172	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576423	158576423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	394	77	405	0	ENST00000361284.1:c.195C>A	p.Phe65Leu	p.F65L	ENST00000361284	NM_001004478.1	65	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS30901.1	195	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCTATC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.19)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Phe65Leu,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	195	405	471	SUCCESS
SLC9C2	284525	.	GRCh37	1	173570862	173570862	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs779418181	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	316	59	281	0	ENST00000367714.3:c.54C>A	p.Cys18Ter	p.C18*	ENST00000367714	NM_178527.3	18	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS1308.1	54	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGCAGAG	NONE	byFrequency	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110	.	.	ENSP00000356687	.	2/28	.	.	.	.	.	.	.	.	rs779418181	2/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,stop_gained,p.Cys18Ter,ENST00000367714,;SLC9C2,splice_region_variant,,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,splice_region_variant,,ENST00000479367,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000476568,;	477	281	375	SUCCESS
SLC9C2	284525	.	GRCh37	1	173570863	173570863	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	319	60	279	0	ENST00000367714.3:c.53G>A	p.Cys18Tyr	p.C18Y	ENST00000367714	NM_178527.3	18	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS1308.1	53	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCAGAGT	NONE	.	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110	.	.	ENSP00000356687	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Cys18Tyr,ENST00000367714,;SLC9C2,splice_region_variant,,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,splice_region_variant,,ENST00000479367,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000476568,;	476	279	380	SUCCESS
BRINP2	57795	.	GRCh37	1	177250229	177250229	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	33	164	0	ENST00000361539.4:c.1917T>A	p.Phe639Leu	p.F639L	ENST00000361539	NM_021165.2	639	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS1320.1	1917	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGAGAC	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	.	deleterious(0.03)	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Phe639Leu,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	2229	164	230	SUCCESS
TAS1R2	80834	.	GRCh37	1	19166175	19166175	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	25	228	0	ENST00000375371.3:c.2438A>G	p.Tyr813Cys	p.Y813C	ENST00000375371	NM_152232.2	813	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS187.1	2438	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGTAGCAC	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Pfam_domain:PF00003	.	.	ENSP00000364520	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000375371	Transcript	.	.	ENSG00000179002	14905	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TS1R2_HUMAN	TAS1R2	HGNC	.	.	UPI0000456168	SNV	TAS1R2,missense_variant,p.Tyr813Cys,ENST00000375371,;	2460	228	221	SUCCESS
SERTAD4	56256	.	GRCh37	1	210415122	210415122	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	28	125	0	ENST00000367012.3:c.511C>G	p.Pro171Ala	p.P171A	ENST00000367012	NM_019605.3	171	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS1494.1	511	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCCTTAC	NONE	.	.	hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3	.	.	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,missense_variant,p.Pro171Ala,ENST00000367012,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;	741	125	175	SUCCESS
SMYD2	56950	.	GRCh37	1	214501025	214501025	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	59	131	0	ENST00000366957.5:c.663G>T	p.Leu221=	p.L221=	ENST00000366957	NM_020197.2	221	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31022.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGGCAGA	NONE	.	.	Superfamily_domains:SSF82199,SMART_domains:SM00317,Gene3D:2.170.270.10,Pfam_domain:PF00856,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF15,PROSITE_profiles:PS50280	.	.	ENSP00000355924	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000366957	Transcript	.	.	ENSG00000143499	20982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMYD2_HUMAN	SMYD2	HGNC	I6L9H7_HUMAN	.	UPI0000205E5F	SNV	SMYD2,synonymous_variant,p.%3D,ENST00000415093,;SMYD2,synonymous_variant,p.%3D,ENST00000366957,;SMYD2,upstream_gene_variant,,ENST00000416415,;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000484459,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;	685	131	166	SUCCESS
HSPG2	3339	.	GRCh37	1	22222416	22222416	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	97	0	ENST00000374695.3:c.243G>A	p.Met81Ile	p.M81I	ENST00000374695	NM_005529.5	81	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS30625.1	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCATCTG	NONE	.	.	PROSITE_profiles:PS50024,SMART_domains:SM00200	.	.	ENSP00000363827	.	3/97	.	.	.	.	.	.	.	.	.	3/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Met60Ile,ENST00000412328,;HSPG2,missense_variant,p.Met47Ile,ENST00000439717,;HSPG2,missense_variant,p.Met81Ile,ENST00000374695,;	323	97	79	SUCCESS
OBSCN	84033	.	GRCh37	1	228465514	228465514	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	27	194	0	ENST00000422127.1:c.6814T>C	p.Phe2272Leu	p.F2272L	ENST00000422127	NM_001098623.2	2272	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS59204.1	8101	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAATTTGTA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	30/116	.	.	.	.	.	.	.	.	.	30/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.292)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Phe2272Leu,ENST00000284548,;OBSCN,missense_variant,p.Phe1119Leu,ENST00000359599,;OBSCN,missense_variant,p.Phe120Leu,ENST00000366706,;OBSCN,missense_variant,p.Phe2701Leu,ENST00000570156,;OBSCN,missense_variant,p.Phe2272Leu,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	8175	194	266	SUCCESS
CAPN9	10753	.	GRCh37	1	230914798	230914798	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145648359	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	22	71	1	ENST00000271971.2:c.1033G>A	p.Ala345Thr	p.A345T	ENST00000271971	NM_006615.2	345	Gcg/Acg	0	A:0.0009	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS1586.1	1033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACGCGATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10183:SF136,hmmpanther:PTHR10183,SMART_domains:SM00230,Superfamily_domains:SSF54001	A:0	A:0	ENSP00000271971	A:0	9/20	.	.	.	.	.	.	.	.	rs145648359,COSM210308	9/20	common_in_exac	ENST00000271971	Transcript	.	A:0.0014	ENSG00000135773	1486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	A:0.0072	tolerated(0.51)	0,1	CAN9_HUMAN	CAPN9	HGNC	.	.	UPI000006E882	SNV	CAPN9,missense_variant,p.Ala345Thr,ENST00000271971,;CAPN9,missense_variant,p.Ala282Thr,ENST00000366666,;CAPN9,missense_variant,p.Ala319Thr,ENST00000354537,;RP11-99J16__A.2,intron_variant,,ENST00000428480,;RP11-99J16__A.2,intron_variant,,ENST00000412344,;RP11-99J16__A.2,intron_variant,,ENST00000452640,;	1146	72	98	SUCCESS
OR2L13	284521	.	GRCh37	1	248263522	248263522	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	23	103	0	ENST00000358120.2:c.845C>A	p.Pro282His	p.P282H	ENST00000358120		282	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1637.1	845	RADIA|MUTECT|MUSE|VARSCANS	.	TACCCCCATGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF102,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000355434	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366478	Transcript	.	.	ENSG00000196071	19578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	OR2LD_HUMAN	OR2L13	HGNC	.	.	UPI0000043517	SNV	OR2L13,missense_variant,p.Pro282His,ENST00000358120,;OR2L13,missense_variant,p.Pro282His,ENST00000366478,;	1182	103	165	SUCCESS
ARID1A	8289	.	GRCh37	1	27099008	27099008	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	40	187	0	ENST00000324856.7:c.3424C>T	p.Gln1142Ter	p.Q1142*	ENST00000324856	NM_006015.4	1142	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS285.1	3424	RADIA|MUTECT|MUSE|VARSCANS	.	CTATGCAGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	13/20	.	.	.	.	.	.	.	.	COSM251400	13/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,stop_gained,p.Gln1142Ter,ENST00000457599,;ARID1A,stop_gained,p.Gln1142Ter,ENST00000324856,;ARID1A,stop_gained,p.Gln759Ter,ENST00000374152,;ARID1A,stop_gained,p.Gln40Ter,ENST00000430799,;ARID1A,upstream_gene_variant,,ENST00000540690,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,downstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000532781,;	3795	187	218	SUCCESS
CSMD2	114784	.	GRCh37	1	34003089	34003089	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	rs149230645	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	73	0	ENST00000241312.4:c.9320G>A	p.Arg3107His	p.R3107H	ENST00000241312		3107	cGc/cAc	0	T:0	T:0	.	T:0	.	T	R/H	nonsense_mediated_decay	YES	CCDS380.1	9320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCGTGGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	T:0.001	T:0.0001	ENSP00000241312	T:0	60/70	.	.	.	.	.	.	.	.	rs149230645	60/70	PASS	ENST00000241312	Transcript	.	T:0.0002	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	T:0	tolerated(0.13)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Arg3251His,ENST00000373381,;CSMD2,missense_variant,p.Arg3107His,ENST00000241312,;	9349	73	91	SUCCESS
CSMD2	114784	.	GRCh37	1	34003090	34003090	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	76	0	ENST00000241312.4:c.9319C>A	p.Arg3107Ser	p.R3107S	ENST00000241312		3107	Cgc/Agc	0	.	.	.	.	.	T	R/S	nonsense_mediated_decay	YES	CCDS380.1	9319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTGGAG	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	60/70	.	.	.	.	.	.	.	.	.	60/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	tolerated(0.75)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Arg3251Ser,ENST00000373381,;CSMD2,missense_variant,p.Arg3107Ser,ENST00000241312,;	9348	76	90	SUCCESS
PTPRF	5792	.	GRCh37	1	44069658	44069658	+	synonymous_variant	Silent	SNP	C	C	T	rs368237069	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	99	0	ENST00000359947.4:c.2835C>T	p.Asn945=	p.N945=	ENST00000359947	NM_002840.3	945	aaC/aaT	0	T:0	.	.	.	.	T	N	protein_coding	YES	CCDS489.2	2835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACGGGCG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19134:SF203,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	T:0.0001	ENSP00000353030	.	16/34	.	.	.	.	.	.	.	.	rs368237069	16/34	PASS	ENST00000359947	Transcript	.	.	ENSG00000142949	9670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRF_HUMAN	PTPRF	HGNC	G1UI20_HUMAN	.	UPI0000470154	SNV	PTPRF,synonymous_variant,p.%3D,ENST00000414879,;PTPRF,synonymous_variant,p.%3D,ENST00000438120,;PTPRF,synonymous_variant,p.%3D,ENST00000359947,;PTPRF,synonymous_variant,p.%3D,ENST00000429895,;PTPRF,synonymous_variant,p.%3D,ENST00000372413,;PTPRF,synonymous_variant,p.%3D,ENST00000422171,;PTPRF,synonymous_variant,p.%3D,ENST00000372414,;PTPRF,intron_variant,,ENST00000372407,;PTPRF,intron_variant,,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,upstream_gene_variant,,ENST00000463041,;	3175	99	95	SUCCESS
TESK2	10420	.	GRCh37	1	45810698	45810699	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TG	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	90	0	ENST00000372086.3:c.1528_1529dup	p.Glu511MetfsTer35	p.E511Mfs*35	ENST00000372086	NM_007170.2	510	cat/caCAt	0	.	.	.	.	.	TG	H/HX	protein_coding	YES	CCDS41323.1	1529-1530	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTCATGGGC	NONE	.	.	.	.	.	ENSP00000361158	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372086	Transcript	.	.	ENSG00000070759	11732	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TESK2_HUMAN	TESK2	HGNC	F5GWP9_HUMAN,D3DPZ7_HUMAN	.	UPI000004073A	insertion	TESK2,frameshift_variant,p.Glu482MetfsTer35,ENST00000341771,;TESK2,frameshift_variant,p.Glu511MetfsTer35,ENST00000372086,;TESK2,frameshift_variant,p.Glu428MetfsTer35,ENST00000538496,;TESK2,frameshift_variant,p.Glu482MetfsTer35,ENST00000372084,;MUTYH,upstream_gene_variant,,ENST00000372098,;TOE1,downstream_gene_variant,,ENST00000372090,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000531105,;MUTYH,upstream_gene_variant,,ENST00000355498,;MUTYH,upstream_gene_variant,,ENST00000372110,;MUTYH,upstream_gene_variant,,ENST00000372100,;MUTYH,upstream_gene_variant,,ENST00000450313,;MUTYH,upstream_gene_variant,,ENST00000529984,;MUTYH,upstream_gene_variant,,ENST00000372115,;TOE1,downstream_gene_variant,,ENST00000539779,;MUTYH,upstream_gene_variant,,ENST00000354383,;MUTYH,upstream_gene_variant,,ENST00000528332,;TESK2,non_coding_transcript_exon_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000460057,;TOE1,downstream_gene_variant,,ENST00000495703,;TOE1,downstream_gene_variant,,ENST00000477731,;TOE1,downstream_gene_variant,,ENST00000471337,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000483642,;	1930-1931	90	101	SUCCESS
SH3GLB1	51100	.	GRCh37	1	87189994	87189994	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	325	85	236	0	ENST00000370558.4:c.478-2A>G		p.X160_splice	ENST00000370558	NM_001206651.1	160		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55612.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGAAAG	NONE	.	.	.	.	.	ENSP00000418744	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000482504	Transcript	.	.	ENSG00000097033	10833	.	.	HIGH	4/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SHLB1_HUMAN	SH3GLB1	HGNC	.	.	UPI0000073DAA	SNV	SH3GLB1,splice_acceptor_variant,,ENST00000535010,;SH3GLB1,splice_acceptor_variant,,ENST00000370558,;SH3GLB1,splice_acceptor_variant,,ENST00000482504,;	.	236	410	SUCCESS
NAA20	51126	.	GRCh37	20	19998024	19998024	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	31	0	ENST00000334982.4:c.-17G>C		p.*6*	ENST00000334982	NM_016100.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13141.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGGAAGCG	NONE	.	.	.	.	.	ENSP00000335636	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000334982	Transcript	.	.	ENSG00000173418	15908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAA20_HUMAN	NAA20	HGNC	.	.	UPI0000029838	SNV	NAA20,5_prime_UTR_variant,,ENST00000334982,;NAA20,5_prime_UTR_variant,,ENST00000310450,;NAA20,upstream_gene_variant,,ENST00000398602,;NAA20,non_coding_transcript_exon_variant,,ENST00000480550,;NAA20,non_coding_transcript_exon_variant,,ENST00000463154,;NAA20,non_coding_transcript_exon_variant,,ENST00000484480,;NAA20,upstream_gene_variant,,ENST00000481837,;	265	31	40	SUCCESS
SLC13A3	64849	.	GRCh37	20	45194931	45194931	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	14	106	0	ENST00000279027.4:c.1431C>A	p.Phe477Leu	p.F477L	ENST00000279027	NM_001193342.1	477	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS13400.1	1431	RADIA|MUTECT|MUSE	.	GTGAAGAAGGC	BUFFER|p.I475I|c.1425C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939	.	.	ENSP00000279027	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000279027	Transcript	.	.	ENSG00000158296	14430	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.02)	.	tolerated(0.73)	.	S13A3_HUMAN	SLC13A3	HGNC	F6WI18_HUMAN,C9J7L4_HUMAN	.	UPI000013542F	SNV	SLC13A3,missense_variant,p.Phe395Leu,ENST00000472148,;SLC13A3,missense_variant,p.Phe427Leu,ENST00000413164,;SLC13A3,missense_variant,p.Phe395Leu,ENST00000396360,;SLC13A3,missense_variant,p.Phe430Leu,ENST00000495082,;SLC13A3,missense_variant,p.Phe477Leu,ENST00000279027,;SLC13A3,missense_variant,p.Phe62Leu,ENST00000435032,;SLC13A3,missense_variant,p.Phe430Leu,ENST00000290317,;SLC13A3,downstream_gene_variant,,ENST00000468915,;	1450	106	117	SUCCESS
APCDD1L	164284	.	GRCh37	20	57035986	57035986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	74	0	ENST00000371149.3:c.1366C>A	p.His456Asn	p.H456N	ENST00000371149	NM_153360.1	456	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS13467.1	1366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGACAGA	NONE	.	.	hmmpanther:PTHR31021:SF3,hmmpanther:PTHR31021	.	.	ENSP00000360191	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000371149	Transcript	.	.	ENSG00000198768	26892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	APCDL_HUMAN	APCDD1L	HGNC	.	.	UPI000006F69F	SNV	APCDD1L,missense_variant,p.His467Asn,ENST00000439429,;APCDD1L,missense_variant,p.His456Asn,ENST00000371149,;APCDD1L,downstream_gene_variant,,ENST00000491015,;	1597	74	71	SUCCESS
URB1	9875	.	GRCh37	21	33691583	33691583	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	95	0	ENST00000382751.3:c.5736C>T	p.Ala1912=	p.A1912=	ENST00000382751	NM_014825.2	1912	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46645.1	5736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGGCAAG	NONE	.	.	hmmpanther:PTHR13500	.	.	ENSP00000372199	.	36/39	.	.	.	.	.	.	.	.	.	36/39	PASS	ENST00000382751	Transcript	.	.	ENSG00000142207	17344	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPA1P_HUMAN	URB1	HGNC	.	.	UPI0000185F65	SNV	URB1,synonymous_variant,p.%3D,ENST00000382751,;MRAP,downstream_gene_variant,,ENST00000339944,;MRAP,downstream_gene_variant,,ENST00000399786,;	5852	95	85	SUCCESS
SFI1	9814	.	GRCh37	22	31979928	31979928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	26	103	0	ENST00000400288.2:c.1316C>A	p.Pro439His	p.P439H	ENST00000400288	NM_001007467.2	439	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS43004.1	1316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCCTTAC	NONE	.	.	hmmpanther:PTHR22028:SF2,hmmpanther:PTHR22028	.	.	ENSP00000383145	.	13/33	.	.	.	.	.	.	.	.	.	13/33	PASS	ENST00000400288	Transcript	.	.	ENSG00000198089	29064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	SFI1_HUMAN	SFI1	HGNC	.	.	UPI00004703B1	SNV	SFI1,missense_variant,p.Pro439His,ENST00000400288,;SFI1,missense_variant,p.Pro13His,ENST00000425671,;SFI1,missense_variant,p.Pro357His,ENST00000400289,;SFI1,missense_variant,p.Pro286His,ENST00000414585,;SFI1,missense_variant,p.Pro408His,ENST00000432498,;SFI1,missense_variant,p.Pro286His,ENST00000443011,;SFI1,missense_variant,p.Pro54His,ENST00000417682,;SFI1,missense_variant,p.Pro384His,ENST00000540643,;SFI1,missense_variant,p.Pro357His,ENST00000443326,;SFI1,non_coding_transcript_exon_variant,,ENST00000467357,;SFI1,missense_variant,p.Pro146His,ENST00000452250,;SFI1,non_coding_transcript_exon_variant,,ENST00000478887,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,intron_variant,,ENST00000524296,;SFI1,downstream_gene_variant,,ENST00000476010,;SFI1,downstream_gene_variant,,ENST00000484806,;	1421	103	137	SUCCESS
SOX10	6663	.	GRCh37	22	38382317	38382317	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	66	0	ENST00000360880.2:c.-188+1035G>T		p.*63*	ENST00000360880				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13964.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCCGGTG	NONE	.	1773	.	.	.	ENSP00000380093	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396884	Transcript	.	.	ENSG00000100146	11190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX10_HUMAN	SOX10	HGNC	A6PVD3_HUMAN	.	UPI00001362AA	SNV	POLR2F,missense_variant,p.Pro38His,ENST00000427034,;POLR2F,synonymous_variant,p.%3D,ENST00000333418,;POLR2F,synonymous_variant,p.%3D,ENST00000407936,;SOX10,intron_variant,,ENST00000360880,;POLR2F,intron_variant,,ENST00000405557,;SOX10,upstream_gene_variant,,ENST00000427770,;SOX10,upstream_gene_variant,,ENST00000396884,;SOX10,upstream_gene_variant,,ENST00000446929,;MIR4534,upstream_gene_variant,,ENST00000578108,;SOX10,upstream_gene_variant,,ENST00000470555,;POLR2F,splice_region_variant,,ENST00000443002,;	.	66	48	SUCCESS
RGPD4	285190	.	GRCh37	2	108487458	108487458	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	467	78	552	0	ENST00000408999.3:c.2998G>A	p.Gly1000Arg	p.G1000R	ENST00000408999	NM_182588.2	1000	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46381.1	2998	RADIA|MUSE|VARSCANS	.	GTGCTGGAGAA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Gly1000Arg,ENST00000408999,;RGPD4,missense_variant,p.Gly1000Arg,ENST00000354986,;	3075	552	545	SUCCESS
CCDC93	54520	.	GRCh37	2	118716046	118716046	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	258	66	256	0	ENST00000376300.2:c.900A>C	p.Leu300=	p.L300=	ENST00000376300	NM_019044.4	300	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS2121.2	900	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATAGCTC	NONE	.	.	hmmpanther:PTHR16441	.	.	ENSP00000365477	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000376300	Transcript	.	.	ENSG00000125633	25611	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD93_HUMAN	CCDC93	HGNC	.	.	UPI0000207DEC	SNV	CCDC93,synonymous_variant,p.%3D,ENST00000376300,;CCDC93,synonymous_variant,p.%3D,ENST00000319432,;CCDC93,non_coding_transcript_exon_variant,,ENST00000460781,;	1038	256	325	SUCCESS
MBD5	55777	.	GRCh37	2	149247524	149247524	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772884187	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	93	0	ENST00000407073.1:c.3624C>A	p.Asn1208Lys	p.N1208K	ENST00000407073	NM_018328.4	1208	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS33302.1	3624	MUTECT|MUSE|VARSCANS	.	CGAAACAGGTG	NONE	.	.	hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14	.	.	ENSP00000386049	.	12/15	.	.	.	.	.	.	.	.	rs772884187	12/15	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,missense_variant,p.Asn1208Lys,ENST00000407073,;MBD5,missense_variant,p.Asn1441Lys,ENST00000404807,;MBD5,intron_variant,,ENST00000416015,;MBD5,non_coding_transcript_exon_variant,,ENST00000496893,;	4621	93	94	SUCCESS
PXDN	7837	.	GRCh37	2	1664717	1664717	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	61	0	ENST00000252804.4:c.1773C>A	p.Arg591=	p.R591=	ENST00000252804	NM_012293.1	591	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS46221.1	1773	RADIA|MUTECT|MUSE|VARSCANS	.	TCATAGCGACC	BUFFER|p.D588D|c.1764C>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000252804	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,synonymous_variant,p.%3D,ENST00000252804,;PXDN,synonymous_variant,p.%3D,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000467191,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;	1824	61	83	SUCCESS
GAD1	2571	.	GRCh37	2	171685987	171685987	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	84	0	ENST00000358196.3:c.148T>G	p.Phe50Val	p.F50V	ENST00000358196	NM_000817.2	50	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS2239.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCTTCTTG	NONE	.	.	.	.	.	ENSP00000350928	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000358196	Transcript	.	.	ENSG00000128683	4092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	tolerated_low_confidence(0.05)	.	DCE1_HUMAN	GAD1	HGNC	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN	.	UPI000002D729	SNV	GAD1,missense_variant,p.Phe50Val,ENST00000456864,;GAD1,missense_variant,p.Phe50Val,ENST00000455008,;GAD1,missense_variant,p.Phe50Val,ENST00000454603,;GAD1,missense_variant,p.Phe50Val,ENST00000344257,;GAD1,missense_variant,p.Phe50Val,ENST00000358196,;GAD1,missense_variant,p.Phe50Val,ENST00000375272,;GAD1,missense_variant,p.Phe23Val,ENST00000486850,;GAD1,splice_region_variant,,ENST00000429023,;GAD1,missense_variant,p.Phe50Val,ENST00000414527,;GAD1,missense_variant,p.Phe50Val,ENST00000493875,;GAD1,splice_region_variant,,ENST00000485013,;GAD1,non_coding_transcript_exon_variant,,ENST00000493270,;	698	84	79	SUCCESS
SLC25A12	8604	.	GRCh37	2	172749745	172749745	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	47	243	0	ENST00000422440.2:c.36T>A	p.Asp12Glu	p.D12E	ENST00000422440	NM_003705.4	12	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS33327.1	36	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGATCCCC	NONE	.	.	Superfamily_domains:SSF47473	.	.	ENSP00000388658	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	deleterious(0.04)	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,missense_variant,p.Asp12Glu,ENST00000422440,;SLC25A12,5_prime_UTR_variant,,ENST00000392592,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000472748,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000464063,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000484227,;SLC25A12,missense_variant,p.Asp12Glu,ENST00000263812,;SLC25A12,missense_variant,p.Asp12Glu,ENST00000426896,;SLC25A12,missense_variant,p.Asp8Glu,ENST00000475360,;	74	243	296	SUCCESS
EVX2	344191	.	GRCh37	2	176948182	176948182	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	55	0	ENST00000308618.4:c.323C>A	p.Ala108Glu	p.A108E	ENST00000308618	NM_001080458.1	108	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS33333.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF289,hmmpanther:PTHR24329	.	.	ENSP00000312385	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308618	Transcript	.	.	ENSG00000174279	3507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.5)	.	EVX2_HUMAN	EVX2	HGNC	.	.	UPI000012A2AF	SNV	EVX2,missense_variant,p.Ala108Glu,ENST00000308618,;	460	55	52	SUCCESS
RAPH1	65059	.	GRCh37	2	204354662	204354662	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	478	31	391	0	ENST00000319170.5:c.377A>G	p.His126Arg	p.H126R	ENST00000319170	NM_213589.1	126	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2359.1	377	MUTECT|MUSE	.	ATGTATGTCGG	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15	.	.	ENSP00000316543	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,missense_variant,p.His126Arg,ENST00000418114,;RAPH1,missense_variant,p.His126Arg,ENST00000428637,;RAPH1,missense_variant,p.His126Arg,ENST00000423104,;RAPH1,missense_variant,p.His126Arg,ENST00000419464,;RAPH1,missense_variant,p.His126Arg,ENST00000374488,;RAPH1,missense_variant,p.His126Arg,ENST00000439222,;RAPH1,missense_variant,p.His126Arg,ENST00000374493,;RAPH1,missense_variant,p.His126Arg,ENST00000374489,;RAPH1,missense_variant,p.His126Arg,ENST00000453034,;RAPH1,missense_variant,p.His126Arg,ENST00000457812,;RAPH1,missense_variant,p.His126Arg,ENST00000308091,;RAPH1,missense_variant,p.His126Arg,ENST00000319170,;RAPH1,downstream_gene_variant,,ENST00000420371,;	677	391	509	SUCCESS
IDH1	3417	.	GRCh37	2	209108305	209108305	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	37	133	0	ENST00000345146.2:c.544A>G	p.Met182Val	p.M182V	ENST00000345146	NM_005896.2	182	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS2381.1	544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACATCCCCA	NONE	.	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	6/10	.	.	.	.	.	.	.	.	COSM209776	6/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.963)	.	deleterious_low_confidence(0)	1	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Met182Val,ENST00000415913,;IDH1,missense_variant,p.Met182Val,ENST00000345146,;IDH1,missense_variant,p.Met182Val,ENST00000446179,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000462386,;IDH1,upstream_gene_variant,,ENST00000484575,;	926	134	158	SUCCESS
CPS1	1373	.	GRCh37	2	211456588	211456589	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	208	41	165	0	ENST00000233072.5:c.984dup	p.Gln329ThrfsTer34	p.Q329Tfs*34	ENST00000233072	NM_001875.4	327	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS46505.1	999-1000	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAACAAACA	NONE	.	.	HAMAP:MF_01209,PROSITE_profiles:PS51273,hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,Pfam_domain:PF00117,TIGRFAM_domain:TIGR01368,Gene3D:3.40.50.880,Superfamily_domains:SSF52317	.	.	ENSP00000402608	.	11/39	.	.	.	.	.	.	.	.	.	11/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	insertion	CPS1,frameshift_variant,p.Gln335ThrfsTer34,ENST00000430249,;CPS1,frameshift_variant,p.Gln329ThrfsTer34,ENST00000233072,;CPS1,upstream_gene_variant,,ENST00000451903,;	1054-1055	165	249	SUCCESS
SLC4A3	6508	.	GRCh37	2	220495017	220495017	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753295774	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	30	0	ENST00000317151.3:c.754C>T	p.Pro252Ser	p.P252S	ENST00000317151		252	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2446.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCCCACA	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15	.	.	ENSP00000362867	.	6/23	.	.	.	.	.	.	.	.	rs753295774,COSM1685464	6/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.713)	.	tolerated(0.05)	0,1	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,missense_variant,p.Pro252Ser,ENST00000373760,;SLC4A3,missense_variant,p.Pro279Ser,ENST00000273063,;SLC4A3,missense_variant,p.Pro252Ser,ENST00000317151,;SLC4A3,missense_variant,p.Pro252Ser,ENST00000358055,;SLC4A3,missense_variant,p.Pro279Ser,ENST00000373762,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.8,upstream_gene_variant,,ENST00000455896,;SLC4A3,intron_variant,,ENST00000497589,;SLC4A3,missense_variant,p.Pro252Ser,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	1104	30	25	SUCCESS
TRPM8	79054	.	GRCh37	2	234878427	234878427	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	479	97	537	0	ENST00000324695.4:c.2114T>A	p.Val705Glu	p.V705E	ENST00000324695	NM_024080.4	705	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS33407.1	2114	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGTGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	.	.	ENSP00000323926	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.308)	.	deleterious(0)	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,missense_variant,p.Val705Glu,ENST00000324695,;TRPM8,intron_variant,,ENST00000456930,;TRPM8,intron_variant,,ENST00000433712,;TRPM8,intron_variant,,ENST00000475044,;TRPM8,non_coding_transcript_exon_variant,,ENST00000477698,;TRPM8,non_coding_transcript_exon_variant,,ENST00000490797,;TRPM8,intron_variant,,ENST00000444298,;	2154	538	577	SUCCESS
LTBP1	4052	.	GRCh37	2	33174004	33174004	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	31	123	0	ENST00000404816.2:c.557G>C	p.Cys186Ser	p.C186S	ENST00000404816		186	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS33177.2	557	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTGCACCA	NONE	.	.	.	.	.	ENSP00000386043	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Cys186Ser,ENST00000404816,;LTBP1,missense_variant,p.Cys186Ser,ENST00000354476,;Y_RNA,upstream_gene_variant,,ENST00000384224,;	910	123	159	SUCCESS
ARHGEF33	100271715	.	GRCh37	2	39158314	39158314	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747341432	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	33	153	0	ENST00000409978.1:c.427C>T	p.Arg143Cys	p.R143C	ENST00000409978		143	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS46263.2	427	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCGTTCT	NONE	.	.	hmmpanther:PTHR12673:SF16,hmmpanther:PTHR12673	.	.	ENSP00000387020	.	7/18	.	.	.	.	.	.	.	.	rs747341432	7/18	PASS	ENST00000409978	Transcript	.	.	ENSG00000214694	37252	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	ARG33_HUMAN	ARHGEF33	HGNC	.	.	UPI000188157A	SNV	ARHGEF33,missense_variant,p.Arg143Cys,ENST00000536934,;ARHGEF33,missense_variant,p.Arg143Cys,ENST00000409978,;ARHGEF33,missense_variant,p.Arg143Cys,ENST00000398800,;ARHGEF33,non_coding_transcript_exon_variant,,ENST00000488692,;MORN2,downstream_gene_variant,,ENST00000441049,;	692	153	205	SUCCESS
BCL11A	53335	.	GRCh37	2	60688381	60688381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	61	0	ENST00000335712.6:c.1666C>A	p.Gln556Lys	p.Q556K	ENST00000335712	NM_022893.3	556	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1862.1	1666	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGCATGG	BUFFER|p.S554F|c.1661C>T|3	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43	.	.	ENSP00000338774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335712	Transcript	.	.	ENSG00000119866	13221	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	tolerated(0.08)	.	BC11A_HUMAN	BCL11A	HGNC	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN	.	UPI000013DC00	SNV	BCL11A,missense_variant,p.Gln522Lys,ENST00000538214,;BCL11A,missense_variant,p.Gln522Lys,ENST00000358510,;BCL11A,missense_variant,p.Gln556Lys,ENST00000356842,;BCL11A,missense_variant,p.Gln225Lys,ENST00000537768,;BCL11A,missense_variant,p.Gln556Lys,ENST00000335712,;BCL11A,intron_variant,,ENST00000359629,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	1894	61	48	SUCCESS
HK2	3099	.	GRCh37	2	75107697	75107697	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	85	0	ENST00000290573.2:c.1570+1G>T		p.X524_splice	ENST00000290573	NM_000189.4	524		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1956.1	.	MUTECT|MUSE	.	CACAGGTACAC	NONE	.	.	.	.	.	ENSP00000290573	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	HIGH	10/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,splice_donor_variant,,ENST00000409174,;HK2,splice_donor_variant,,ENST00000290573,;	.	85	75	SUCCESS
IGKV2-28	28921	.	GRCh37	2	89521489	89521489	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs779735863	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	385	35	359	0	ENST00000482769.1:c.50G>T	p.Gly17Val	p.G17V	ENST00000482769		17	gGa/gTa	0	.	.	.	.	.	A	G/V	IG_V_gene	YES	.	50	RADIA|MUSE|VARSCANS	.	TGGATCCTGAA	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF155,hmmpanther:PTHR23267,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000419353	.	2/2	.	.	.	.	.	.	.	.	rs779735863	2/2	PASS	ENST00000482769	Transcript	.	.	ENSG00000244116	5783	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.113)	.	deleterious(0.05)	.	.	IGKV2-28	HGNC	.	.	UPI00005FFCB1	SNV	IGKV2-28,missense_variant,p.Gly17Val,ENST00000482769,;	80	359	421	SUCCESS
IGKV2-28	28921	.	GRCh37	2	89521490	89521490	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	383	35	359	0	ENST00000482769.1:c.50-1G>A		p.X17_splice	ENST00000482769		17		0	.	.	.	.	.	T	.	IG_V_gene	YES	.	.	RADIA|MUSE|VARSCANS	.	GGATCCTGAAA	NONE	.	.	.	.	.	ENSP00000419353	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000482769	Transcript	.	.	ENSG00000244116	5783	.	.	HIGH	1/1	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGKV2-28	HGNC	.	.	UPI00005FFCB1	SNV	IGKV2-28,splice_acceptor_variant,,ENST00000482769,;	.	359	418	SUCCESS
PROM2	150696	.	GRCh37	2	95952937	95952937	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	80	0	ENST00000317620.9:c.2151C>T	p.Ala717=	p.A717=	ENST00000317620	NM_001165978.1	717	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2012.1	2151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTGGGC	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	.	.	ENSP00000318270	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000317620	Transcript	.	.	ENSG00000155066	20685	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,synonymous_variant,p.%3D,ENST00000317620,;PROM2,synonymous_variant,p.%3D,ENST00000542147,;PROM2,synonymous_variant,p.%3D,ENST00000403131,;PROM2,synonymous_variant,p.%3D,ENST00000317668,;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,downstream_gene_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	2284	80	93	SUCCESS
ZAP70	7535	.	GRCh37	2	98349771	98349771	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	65	0	ENST00000264972.5:c.802C>G	p.Pro268Ala	p.P268A	ENST00000264972	NM_001079.3	268	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS33254.1	802	RADIA|VARSCANS	.	CTGCTCCCACA	NONE	.	.	hmmpanther:PTHR24418:SF80,hmmpanther:PTHR24418,PIRSF_domain:PIRSF000604	.	.	ENSP00000264972	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000264972	Transcript	.	.	ENSG00000115085	12858	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.08)	.	ZAP70_HUMAN	ZAP70	HGNC	B4E0E2_HUMAN	.	UPI000013C370	SNV	ZAP70,missense_variant,p.Pro142Ala,ENST00000442208,;ZAP70,missense_variant,p.Pro268Ala,ENST00000264972,;ZAP70,upstream_gene_variant,,ENST00000451498,;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,non_coding_transcript_exon_variant,,ENST00000498836,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000495754,;ZAP70,upstream_gene_variant,,ENST00000489250,;	1017	65	43	SUCCESS
KY	339855	.	GRCh37	3	134339676	134339676	+	synonymous_variant	Silent	SNP	G	G	A	rs374650727	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	30	98	1	ENST00000423778.2:c.507C>T	p.Asp169=	p.D169=	ENST00000423778	NM_178554.4	169	gaC/gaT	0	A:0.0002	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS46920.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGTCTAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31,Superfamily_domains:SSF54001	A:0.002	A:0	ENSP00000397598	A:0	7/11	.	.	.	.	.	.	.	.	rs374650727,COSM86778	7/11	PASS	ENST00000423778	Transcript	.	A:0.0004	ENSG00000174611	26576	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,synonymous_variant,p.%3D,ENST00000503669,;KY,synonymous_variant,p.%3D,ENST00000423778,;KY,synonymous_variant,p.%3D,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;KY,non_coding_transcript_exon_variant,,ENST00000508041,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;	569	99	139	SUCCESS
CHCHD4	131474	.	GRCh37	3	14163506	14163506	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	59	0	ENST00000396914.3:c.22+2649G>T		p.*8*	ENST00000396914	NM_001098502.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2617.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATCCTACC	NONE	.	.	.	.	.	ENSP00000295767	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295767	Transcript	.	.	ENSG00000163528	26467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIA40_HUMAN	CHCHD4	HGNC	.	.	UPI000007370C	SNV	CHCHD4,5_prime_UTR_variant,,ENST00000295767,;CHCHD4,intron_variant,,ENST00000396914,;TMEM43,upstream_gene_variant,,ENST00000306077,;CHCHD4,3_prime_UTR_variant,,ENST00000420103,;TMEM43,upstream_gene_variant,,ENST00000432444,;	297	59	50	SUCCESS
GPR149	344758	.	GRCh37	3	154055824	154055824	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	429	46	433	0	ENST00000389740.2:c.1860G>A	p.Glu620=	p.E620=	ENST00000389740	NM_001038705.1	620	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43162.1	1860	MUTECT|MUSE|VARSCANS	.	AGAACCTCCAA	NONE	.	.	.	.	.	ENSP00000374390	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,synonymous_variant,p.%3D,ENST00000389740,;	1960	433	475	SUCCESS
SLITRK3	22865	.	GRCh37	3	164906413	164906413	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs989521402	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	18	87	0	ENST00000241274.3:c.2206G>A	p.Val736Met	p.V736M	ENST00000241274	NM_014926.2	736	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3197.1	2206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACGGGAG	NONE	.	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373	.	.	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	tolerated(0.12)	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,missense_variant,p.Val736Met,ENST00000475390,;SLITRK3,missense_variant,p.Val736Met,ENST00000241274,;SLITRK3,downstream_gene_variant,,ENST00000497724,;	2650	87	98	SUCCESS
SLITRK3	22865	.	GRCh37	3	164906414	164906414	+	synonymous_variant	Silent	SNP	G	G	T	rs372406969	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	86	0	ENST00000241274.3:c.2205C>A	p.Pro735=	p.P735=	ENST00000241274	NM_014926.2	735	ccC/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS3197.1	2205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACGGGAGG	NONE	byCluster	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373	.	T:0.0001	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	rs372406969	2/2	PASS	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,synonymous_variant,p.%3D,ENST00000475390,;SLITRK3,synonymous_variant,p.%3D,ENST00000241274,;SLITRK3,downstream_gene_variant,,ENST00000497724,;	2649	86	99	SUCCESS
PHC3	80012	.	GRCh37	3	169820663	169820663	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	224	38	217	0	ENST00000494943.1:c.2492A>T	p.Asn831Ile	p.N831I	ENST00000494943		831	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS46952.1	2528	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATTATCA	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF20	.	.	ENSP00000420294	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000495893	Transcript	.	.	ENSG00000173889	15682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.527)	.	tolerated(0.2)	.	PHC3_HUMAN	PHC3	HGNC	C9JYH7_HUMAN	.	UPI00004DF1A6	SNV	PHC3,missense_variant,p.Asn843Ile,ENST00000495893,;PHC3,missense_variant,p.Asn790Ile,ENST00000467570,;PHC3,missense_variant,p.Asn831Ile,ENST00000494943,;PHC3,missense_variant,p.Asn9Ile,ENST00000484068,;	2560	217	262	SUCCESS
SPATA16	83893	.	GRCh37	3	172835457	172835457	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	574	154	645	0	ENST00000351008.3:c.65T>G	p.Val22Gly	p.V22G	ENST00000351008	NM_031955.5	22	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS3221.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAACAAGC	NONE	.	.	Pfam_domain:PF15015	.	.	ENSP00000341765	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious_low_confidence(0)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Val22Gly,ENST00000351008,;	249	646	728	SUCCESS
RTP1	132112	.	GRCh37	3	186915400	186915400	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs41469544	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	42	225	0	ENST00000312295.4:c.97A>T	p.Thr33Ser	p.T33S	ENST00000312295	NM_153708.2	33	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3287.2	97	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTACTGAC	NONE	.	.	hmmpanther:PTHR14402:SF1,hmmpanther:PTHR14402	.	.	ENSP00000311712	.	1/2	.	.	.	.	.	.	.	.	rs41469544	1/2	PASS	ENST00000312295	Transcript	.	.	ENSG00000175077	28580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.87)	.	RTP1_HUMAN	RTP1	HGNC	.	.	UPI00004E18F3	SNV	RTP1,missense_variant,p.Thr33Ser,ENST00000312295,;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	127	225	233	SUCCESS
MB21D2	151963	.	GRCh37	3	192516896	192516896	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	17	102	0	ENST00000392452.2:c.755T>A	p.Leu252His	p.L252H	ENST00000392452	NM_178496.3	252	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS3302.2	755	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGAGCCAG	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF43	.	.	ENSP00000376246	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392452	Transcript	.	.	ENSG00000180611	30438	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	M21D2_HUMAN	MB21D2	HGNC	A8K332_HUMAN	.	UPI000013FAFE	SNV	MB21D2,missense_variant,p.Leu252His,ENST00000392452,;	1076	102	91	SUCCESS
SLC4A7	9497	.	GRCh37	3	27473077	27473077	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	44	171	1	ENST00000295736.5:c.835T>G	p.Ser279Ala	p.S279A	ENST00000295736	NM_003615.4	279	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS33721.1	835	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGATAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Pfam_domain:PF07565	.	.	ENSP00000295736	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000295736	Transcript	.	.	ENSG00000033867	11033	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.323)	.	tolerated(0.06)	.	S4A7_HUMAN	SLC4A7	HGNC	.	.	UPI0000DBEEB7	SNV	SLC4A7,missense_variant,p.Ser271Ala,ENST00000425128,;SLC4A7,missense_variant,p.Ser275Ala,ENST00000445684,;SLC4A7,missense_variant,p.Ser288Ala,ENST00000454389,;SLC4A7,missense_variant,p.Ser275Ala,ENST00000440156,;SLC4A7,missense_variant,p.Ser279Ala,ENST00000295736,;SLC4A7,missense_variant,p.Ser271Ala,ENST00000446700,;SLC4A7,5_prime_UTR_variant,,ENST00000388777,;SLC4A7,intron_variant,,ENST00000435667,;SLC4A7,intron_variant,,ENST00000428386,;SLC4A7,intron_variant,,ENST00000437179,;SLC4A7,intron_variant,,ENST00000455077,;SLC4A7,intron_variant,,ENST00000428179,;SLC4A7,missense_variant,p.Ser271Ala,ENST00000438530,;SLC4A7,intron_variant,,ENST00000428005,;SLC4A7,intron_variant,,ENST00000457377,;SLC4A7,intron_variant,,ENST00000437266,;	906	172	208	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274899	41274899	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	51	177	0	ENST00000349496.5:c.1149G>C	p.Trp383Cys	p.W383C	ENST00000349496	NM_001904.3	383	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS2694.1	1149	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGACTCT	NONE	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	COSM251415	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.786)	.	deleterious(0)	1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Trp383Cys,ENST00000349496,;CTNNB1,missense_variant,p.Trp383Cys,ENST00000396185,;CTNNB1,missense_variant,p.Trp383Cys,ENST00000405570,;CTNNB1,missense_variant,p.Trp376Cys,ENST00000453024,;CTNNB1,missense_variant,p.Trp383Cys,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1429	177	242	SUCCESS
KLHL40	131377	.	GRCh37	3	42727555	42727555	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	68	0	ENST00000287777.4:c.445G>C	p.Ala149Pro	p.A149P	ENST00000287777	NM_152393.3	149	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS2703.1	445	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCGCCGTG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000287777	.	1/6	.	.	.	.	.	.	.	.	COSM1423130	1/6	PASS	ENST00000287777	Transcript	.	.	ENSG00000157119	30372	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	KLH40_HUMAN	KLHL40	HGNC	.	.	UPI000000D866	SNV	KLHL40,missense_variant,p.Ala149Pro,ENST00000287777,;	545	68	60	SUCCESS
CCDC13	152206	.	GRCh37	3	42787466	42787466	+	synonymous_variant	Silent	SNP	C	C	A	rs749301195	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	70	0	ENST00000310232.6:c.774G>T	p.Ser258=	p.S258=	ENST00000310232	NM_144719.3	258	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2705.1	774	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGAAGA	NONE	byFrequency	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	7/16	.	.	.	.	.	.	.	.	rs749301195,COSM1423138	7/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,synonymous_variant,p.%3D,ENST00000310232,;CCDC13-AS1,non_coding_transcript_exon_variant,,ENST00000418161,;CCDC13-AS1,downstream_gene_variant,,ENST00000446950,;CCDC13,downstream_gene_variant,,ENST00000435327,;CCDC13,non_coding_transcript_exon_variant,,ENST00000479576,;CCDC13,downstream_gene_variant,,ENST00000492806,;	858	70	92	SUCCESS
MAP4	4134	.	GRCh37	3	47957722	47957722	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	287	79	325	0	ENST00000360240.6:c.1595A>C	p.Lys532Thr	p.K532T	ENST00000360240	NM_002375.4	532	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33750.1	1595	RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCTTGATG	NONE	.	.	hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF16	.	.	ENSP00000353375	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000360240	Transcript	.	.	ENSG00000047849	6862	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.339)	.	deleterious(0)	.	MAP4_HUMAN	MAP4	HGNC	.	.	UPI000020A6A4	SNV	MAP4,missense_variant,p.Lys549Thr,ENST00000426837,;MAP4,missense_variant,p.Lys532Thr,ENST00000360240,;MAP4,missense_variant,p.Lys532Thr,ENST00000395734,;MAP4,intron_variant,,ENST00000383737,;MAP4,downstream_gene_variant,,ENST00000423088,;MAP4,intron_variant,,ENST00000482752,;	2114	325	366	SUCCESS
DNAH12	201625	.	GRCh37	3	57438657	57438657	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	27	97	0	ENST00000351747.2:c.3630T>C	p.Asn1210=	p.N1210=	ENST00000351747	NM_178504.4	1210	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	.	.	3630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAATTAAT	BUFFER|p.R94C|c.280C>T|3,BUFFER|p.R1207C|c.3619C>T|3	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676	.	.	ENSP00000295937	.	25/59	.	.	.	.	.	.	.	.	.	25/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000495027,;	3811	97	123	SUCCESS
DNAH12	201625	.	GRCh37	3	57443514	57443514	+	synonymous_variant	Silent	SNP	C	C	T	rs774518467	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	38	119	0	ENST00000351747.2:c.3201G>A	p.Lys1067=	p.K1067=	ENST00000351747	NM_178504.4	1067	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	.	.	3201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACTTTTC	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000295937	.	22/59	.	.	.	.	.	.	.	.	rs774518467	22/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000495027,;	3382	119	159	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64599095	64599095	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	31	125	0	ENST00000498707.1:c.3280G>C	p.Glu1094Gln	p.E1094Q	ENST00000498707	NM_182920.1	1094	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS2903.1	3280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCAGGGT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000418735	.	22/40	.	.	.	.	.	.	.	.	COSM1309435	22/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.008)	.	tolerated(0.34)	1	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Glu150Gln,ENST00000481060,;ADAMTS9,missense_variant,p.Glu1066Gln,ENST00000295903,;ADAMTS9,missense_variant,p.Glu1094Gln,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,downstream_gene_variant,,ENST00000475557,;	3623	125	143	SUCCESS
ABCE1	6059	.	GRCh37	4	146029198	146029198	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	23	76	0	ENST00000296577.4:c.221A>G	p.Asn74Ser	p.N74S	ENST00000296577	NM_002940.2	74	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34071.1	221	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAATCTAC	NONE	.	.	Prints_domain:PR01868,Superfamily_domains:SSF54862,Gene3D:3.30.70.20,hmmpanther:PTHR19248,PROSITE_profiles:PS51379	.	.	ENSP00000296577	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000296577	Transcript	.	.	ENSG00000164163	69	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	ABCE1_HUMAN	ABCE1	HGNC	D6RGF4_HUMAN,D6R9I9_HUMAN	.	UPI0000001226	SNV	ABCE1,missense_variant,p.Asn74Ser,ENST00000296577,;ABCE1,missense_variant,p.Asn74Ser,ENST00000502586,;ABCE1,intron_variant,,ENST00000506506,;ABCE1,intron_variant,,ENST00000502803,;OTUD4,downstream_gene_variant,,ENST00000455611,;ABCE1,missense_variant,p.Asn7Ser,ENST00000504292,;ABCE1,missense_variant,p.Asn74Ser,ENST00000507193,;	736	76	134	SUCCESS
SH3D19	152503	.	GRCh37	4	152058972	152058972	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	88	0	ENST00000304527.4:c.1568A>T	p.Tyr523Phe	p.Y523F	ENST00000304527	NM_001009555.3	523	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS34077.2	1568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATAAACA	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF00018,Gene3D:2.30.30.40,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF127,PROSITE_profiles:PS50002	.	.	ENSP00000302913	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000304527	Transcript	.	.	ENSG00000109686	30418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.32)	.	SH319_HUMAN	SH3D19	HGNC	.	.	UPI0000251D9A	SNV	SH3D19,missense_variant,p.Tyr464Phe,ENST00000424281,;SH3D19,missense_variant,p.Tyr523Phe,ENST00000304527,;SH3D19,missense_variant,p.Tyr500Phe,ENST00000455740,;SH3D19,missense_variant,p.Tyr500Phe,ENST00000409598,;SH3D19,missense_variant,p.Tyr523Phe,ENST00000409252,;SH3D19,missense_variant,p.Tyr500Phe,ENST00000514152,;SH3D19,missense_variant,p.Tyr464Phe,ENST00000427414,;RP11-372K14.2,upstream_gene_variant,,ENST00000603472,;SH3D19,non_coding_transcript_exon_variant,,ENST00000508492,;SH3D19,non_coding_transcript_exon_variant,,ENST00000478503,;	2658	88	124	SUCCESS
GPM6A	2823	.	GRCh37	4	176556173	176556173	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	33	126	0	ENST00000280187.7:c.720C>T	p.Ala240=	p.A240=	ENST00000280187	NM_005277.4	240	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3824.1	720	RADIA|MUTECT|MUSE|VARSCANS	.	ACATAGGCCCA	NONE	.	.	hmmpanther:PTHR11683:SF4,hmmpanther:PTHR11683,Pfam_domain:PF01275	.	.	ENSP00000280187	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000280187	Transcript	.	.	ENSG00000150625	4460	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPM6A_HUMAN	GPM6A	HGNC	Q49AH3_HUMAN,D6RIF4_HUMAN,D6RFZ3_HUMAN,D6RFY0_HUMAN,D6REJ8_HUMAN,D6RD95_HUMAN,D6RBM6_HUMAN,D6RBH3_HUMAN,D6RAE4_HUMAN,D6R9T7_HUMAN	.	UPI000012EAE1	SNV	GPM6A,synonymous_variant,p.%3D,ENST00000280187,;GPM6A,synonymous_variant,p.%3D,ENST00000515090,;GPM6A,synonymous_variant,p.%3D,ENST00000506894,;GPM6A,synonymous_variant,p.%3D,ENST00000393658,;GPM6A,non_coding_transcript_exon_variant,,ENST00000506219,;GPM6A,non_coding_transcript_exon_variant,,ENST00000508323,;GPM6A,non_coding_transcript_exon_variant,,ENST00000507080,;	766	126	188	SUCCESS
EVC2	132884	.	GRCh37	4	5578157	5578157	+	synonymous_variant	Silent	SNP	G	G	A	rs775899047	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	43	0	ENST00000344408.5:c.3082C>T	p.Leu1028=	p.L1028=	ENST00000344408	NM_147127.4	1028	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3382.2	3082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCTTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	18/22	.	.	.	.	.	.	.	.	rs775899047	18/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,synonymous_variant,p.%3D,ENST00000344938,;EVC2,synonymous_variant,p.%3D,ENST00000310917,;EVC2,synonymous_variant,p.%3D,ENST00000344408,;EVC2,synonymous_variant,p.%3D,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	3136	43	45	SUCCESS
PPBPP2	10895	.	GRCh37	4	74920006	74920006	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	33	0	ENST00000513150.1:n.1111C>A		p.*371*	ENST00000513150				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTGCTGCA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000513150	Transcript	.	.	ENSG00000248848	16981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PPBPP2	HGNC	.	.	.	SNV	PPBPP2,non_coding_transcript_exon_variant,,ENST00000513150,;PPBPP2,non_coding_transcript_exon_variant,,ENST00000514391,;	1111	33	25	SUCCESS
TRMT44	152992	.	GRCh37	4	8469997	8469997	+	synonymous_variant	Silent	SNP	G	G	A	rs1466820839	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	9	122	0	ENST00000389737.4:c.1851G>A	p.Ala617=	p.A617=	ENST00000389737	NM_152544.2	617	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3402.2	1851	MUTECT|MUSE	.	GTAGCGAATTT	NONE	.	.	hmmpanther:PTHR21210:SF0,hmmpanther:PTHR21210	.	.	ENSP00000374387	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000389737	Transcript	.	.	ENSG00000155275	26653	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRM44_HUMAN	TRMT44	HGNC	.	.	UPI0000DE1FA2	SNV	TRMT44,synonymous_variant,p.%3D,ENST00000513449,;TRMT44,synonymous_variant,p.%3D,ENST00000389737,;TRMT44,non_coding_transcript_exon_variant,,ENST00000532477,;TRMT44,upstream_gene_variant,,ENST00000531038,;	1851	122	123	SUCCESS
WDFY3	23001	.	GRCh37	4	85707240	85707240	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	38	184	0	ENST00000295888.4:c.3954A>G	p.Pro1318=	p.P1318=	ENST00000295888	NM_014991.4	1318	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3609.1	3954	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTGGTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	24/68	.	.	.	.	.	.	.	.	.	24/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,synonymous_variant,p.%3D,ENST00000295888,;WDFY3,synonymous_variant,p.%3D,ENST00000322366,;	4362	184	216	SUCCESS
PPIP5K2	23262	.	GRCh37	5	102494240	102494240	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	394	100	317	0	ENST00000358359.3:c.1700A>T	p.Glu567Val	p.E567V	ENST00000358359	NM_001281471.1	567	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34207.1	1700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGAAGGAC	NONE	.	.	Superfamily_domains:SSF53254,Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750	.	.	ENSP00000313070	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000321521	Transcript	.	.	ENSG00000145725	29035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	VIP2_HUMAN	PPIP5K2	HGNC	K7EPT7_HUMAN,D6RFG4_HUMAN	.	UPI000006E414	SNV	PPIP5K2,missense_variant,p.Glu567Val,ENST00000414217,;PPIP5K2,missense_variant,p.Glu567Val,ENST00000358359,;PPIP5K2,missense_variant,p.Glu567Val,ENST00000321521,;PPIP5K2,downstream_gene_variant,,ENST00000507921,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;	2273	317	494	SUCCESS
CTNND2	1501	.	GRCh37	5	11385059	11385059	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	35	0	ENST00000304623.8:c.895T>A	p.Ser299Thr	p.S299T	ENST00000304623	NM_001332.2	299	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS3881.1	895	MUTECT|MUSE	.	GGGCGAGGAGC	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.19)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Ser208Thr,ENST00000511377,;CTNND2,missense_variant,p.Ser299Thr,ENST00000304623,;CTNND2,missense_variant,p.Ser299Thr,ENST00000359640,;CTNND2,intron_variant,,ENST00000502551,;CTNND2,intron_variant,,ENST00000503622,;CTNND2,intron_variant,,ENST00000458100,;CTNND2,downstream_gene_variant,,ENST00000513598,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,upstream_gene_variant,,ENST00000506735,;CTNND2,downstream_gene_variant,,ENST00000514132,;CTNND2,upstream_gene_variant,,ENST00000495388,;CTNND2,intron_variant,,ENST00000513588,;CTNND2,intron_variant,,ENST00000504499,;CTNND2,upstream_gene_variant,,ENST00000507430,;	1085	35	31	SUCCESS
NEUROG1	4762	.	GRCh37	5	134871402	134871402	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	95	0	ENST00000314744.4:c.-22G>T		p.*8*	ENST00000314744	NM_006161.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4187.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGACGGACA	NONE	.	.	.	.	.	ENSP00000317580	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314744	Transcript	.	.	ENSG00000181965	7764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGN1_HUMAN	NEUROG1	HGNC	F1T0H3_HUMAN	.	UPI0000072868	SNV	NEUROG1,5_prime_UTR_variant,,ENST00000314744,;	238	95	85	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237567	140237567	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782329809	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	173	0	ENST00000307360.5:c.1934G>T	p.Arg645Leu	p.R645L	ENST00000307360	NM_018901.2	645	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS54921.1	1934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGCCTAC	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	rs782329809	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious_low_confidence(0.01)	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,missense_variant,p.Arg645Leu,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	1934	173	88	SUCCESS
PCDHGA6	56109	.	GRCh37	5	140755534	140755534	+	synonymous_variant	Silent	SNP	G	G	A	rs200712802	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	18	123	0	ENST00000517434.1:c.1884G>A	p.Thr628=	p.T628=	ENST00000517434	NM_018919.2	628	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54926.1	1884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACGGCGCG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429601	.	1/4	.	.	.	.	.	.	.	.	rs200712802,COSM1434466	1/4	PASS	ENST00000517434	Transcript	.	.	ENSG00000253731	8704	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PCDG6_HUMAN	PCDHGA6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000715C8	SNV	PCDHGA6,synonymous_variant,p.%3D,ENST00000517434,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;	1884	123	94	SUCCESS
CCNJL	79616	.	GRCh37	5	159686722	159686722	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	335	79	366	0	ENST00000393977.3:c.481A>G	p.Arg161Gly	p.R161G	ENST00000393977	NM_024565.5	161	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS4350.2	481	RADIA|MUTECT|MUSE|VARSCANS	.	GATCCTCGTGC	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF63,Gene3D:1.10.472.10,SMART_domains:SM00385	.	.	ENSP00000377547	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000393977	Transcript	.	.	ENSG00000135083	25876	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(1)	.	CCNJL_HUMAN	CCNJL	HGNC	.	.	UPI000020C075	SNV	CCNJL,missense_variant,p.Arg113Gly,ENST00000257536,;CCNJL,missense_variant,p.Arg161Gly,ENST00000393977,;CCNJL,missense_variant,p.Arg148Gly,ENST00000520748,;CCNJL,missense_variant,p.Arg113Gly,ENST00000519673,;CCNJL,missense_variant,p.Arg112Gly,ENST00000541762,;CCNJL,non_coding_transcript_exon_variant,,ENST00000377503,;RP11-34P1.2,downstream_gene_variant,,ENST00000522428,;	767	367	415	SUCCESS
RANBP17	64901	.	GRCh37	5	170305242	170305242	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	224	53	262	0	ENST00000523189.1:c.160G>C	p.Gly54Arg	p.G54R	ENST00000523189	NM_022897.3	54	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS34287.1	160	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGGAACA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00913,Pfam_domain:PF03810,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	.	ENSP00000427975	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.096)	.	tolerated(0.13)	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,missense_variant,p.Gly54Arg,ENST00000523189,;RANBP17,5_prime_UTR_variant,,ENST00000519944,;RANBP17,missense_variant,p.Gly54Arg,ENST00000519949,;RANBP17,missense_variant,p.Gly54Arg,ENST00000389118,;RANBP17,missense_variant,p.Gly54Arg,ENST00000519256,;RANBP17,missense_variant,p.Gly54Arg,ENST00000522533,;RANBP17,missense_variant,p.Gly54Arg,ENST00000522066,;RANBP17,missense_variant,p.Gly54Arg,ENST00000520864,;RANBP17,non_coding_transcript_exon_variant,,ENST00000443155,;RANBP17,non_coding_transcript_exon_variant,,ENST00000519130,;RANBP17,upstream_gene_variant,,ENST00000523727,;	324	262	278	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60628502	60628502	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	29	0	ENST00000252744.5:c.403G>T	p.Gly135Cys	p.G135C	ENST00000252744	NM_020928.1	135	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS47215.1	403	RADIA|VARSCANS	.	CCGCGGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.21)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Gly135Cys,ENST00000252744,;	403	29	21	SUCCESS
PHACTR1	221692	.	GRCh37	6	12749963	12749963	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	37	0	ENST00000332995.7:c.191G>T	p.Arg64Leu	p.R64L	ENST00000332995		64	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	.	191	MUTECT|MUSE	.	AGTGCGCTCCA	NONE	.	.	hmmpanther:PTHR12751,Low_complexity_(Seg):seg	.	.	ENSP00000368653	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000379348	Transcript	.	.	ENSG00000112137	20990	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.433)	.	deleterious_low_confidence(0)	.	.	PHACTR1	HGNC	Q5R356_HUMAN	.	UPI000020D535	SNV	PHACTR1,missense_variant,p.Arg64Leu,ENST00000379350,;PHACTR1,missense_variant,p.Arg64Leu,ENST00000332995,;PHACTR1,missense_variant,p.Arg100Leu,ENST00000406205,;PHACTR1,missense_variant,p.Arg64Leu,ENST00000379348,;AL354680.1,upstream_gene_variant,,ENST00000411359,;	368	37	36	SUCCESS
EPM2A	7957	.	GRCh37	6	146007291	146007291	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	31	178	0	ENST00000367519.3:c.443A>C	p.Asn148Thr	p.N148T	ENST00000367519	NM_005670.3	148	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS5206.1	443	RADIA|MUTECT|MUSE|VARSCANS	.	CAATATTAAAA	NONE	.	.	hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF48,Gene3D:3.90.190.10	.	.	ENSP00000356489	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000367519	Transcript	.	.	ENSG00000112425	3413	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.58)	.	EPM2A_HUMAN	EPM2A	HGNC	H0UI04_HUMAN	.	UPI000006E60E	SNV	EPM2A,missense_variant,p.Asn148Thr,ENST00000367519,;EPM2A,missense_variant,p.Asn68Thr,ENST00000435470,;EPM2A,missense_variant,p.Asn48Thr,ENST00000450221,;EPM2A,non_coding_transcript_exon_variant,,ENST00000496228,;EPM2A,intron_variant,,ENST00000461700,;	969	178	198	SUCCESS
IRF4	3662	.	GRCh37	6	393366	393366	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	31	0	ENST00000380956.4:c.214A>T	p.Lys72Ter	p.K72*	ENST00000380956	NM_001195286.1	72	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4469.1	214	MUTECT|MUSE	.	TCTTCAAGGTC	NONE	.	.	PROSITE_profiles:PS51507,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6,PROSITE_patterns:PS00601,Gene3D:1.10.10.10,Pfam_domain:PF00605,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267	.	.	ENSP00000370343	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000380956	Transcript	.	.	ENSG00000137265	6119	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRF4_HUMAN	IRF4	HGNC	.	.	UPI000012D88B	SNV	IRF4,stop_gained,p.Lys72Ter,ENST00000380956,;IRF4,splice_region_variant,,ENST00000469834,;IRF4,intron_variant,,ENST00000495137,;IRF4,intron_variant,,ENST00000468485,;IRF4,stop_gained,p.Lys72Ter,ENST00000493114,;	340	31	28	SUCCESS
ZNF318	24149	.	GRCh37	6	43306777	43306777	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	213	57	220	1	ENST00000361428.2:c.4959A>T	p.Leu1653=	p.L1653=	ENST00000361428	NM_014345.2	1653	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4895.2	4959	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTAGGGC	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,synonymous_variant,p.%3D,ENST00000361428,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000605935,;	5037	221	270	SUCCESS
PLA2G7	7941	.	GRCh37	6	46678165	46678165	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	26	0	ENST00000274793.7:c.777+117C>A		p.*259*	ENST00000274793	NM_005084.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4917.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGGAGGG	NONE	.	.	.	.	.	ENSP00000274793	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000274793	Transcript	.	.	ENSG00000146070	9040	.	.	MODIFIER	8/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAFA_HUMAN	PLA2G7	HGNC	.	.	UPI000002FED1	SNV	PLA2G7,3_prime_UTR_variant,,ENST00000538237,;PLA2G7,3_prime_UTR_variant,,ENST00000541026,;PLA2G7,intron_variant,,ENST00000537365,;PLA2G7,intron_variant,,ENST00000274793,;	.	26	30	SUCCESS
PTCHD4	442213	.	GRCh37	6	47846352	47846352	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755804869	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	46	231	0	ENST00000339488.4:c.2228C>A	p.Thr743Asn	p.T743N	ENST00000339488	NM_001013732.3	743	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS34473.2	2228	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGGGTGTGC	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866	.	.	ENSP00000341914	.	3/3	.	.	.	.	.	.	.	.	rs755804869	3/3	PASS	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	tolerated(0.09)	.	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,missense_variant,p.Thr743Asn,ENST00000339488,;	2262	231	221	SUCCESS
RHAG	6005	.	GRCh37	6	49604389	49604389	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	259	77	208	2	ENST00000371175.4:c.137T>C	p.Ile46Thr	p.I46T	ENST00000371175	NM_000324.2	46	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS4927.1	137	RADIA|SOMATICSNIPER|VARSCANS	.	AGAATATGCCC	NONE	.	.	hmmpanther:PTHR11883,hmmpanther:PTHR11883:SF27,Pfam_domain:PF00909	.	.	ENSP00000360217	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000371175	Transcript	.	.	ENSG00000112077	10006	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.77)	.	RHAG_HUMAN	RHAG	HGNC	Q9UL98_HUMAN,Q9UK69_HUMAN,Q9UHG8_HUMAN,Q9UBB8_HUMAN	.	UPI000006D18F	SNV	RHAG,missense_variant,p.Ile46Thr,ENST00000229810,;RHAG,missense_variant,p.Ile46Thr,ENST00000371175,;	164	210	337	SUCCESS
COL12A1	1303	.	GRCh37	6	75853093	75853093	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	29	116	0	ENST00000322507.8:c.4702A>T	p.Arg1568Ter	p.R1568*	ENST00000322507	NM_004370.5	1568	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43482.1	4702	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCTGGGTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	26/66	.	.	.	.	.	.	.	.	.	26/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,stop_gained,p.Arg1568Ter,ENST00000416123,;COL12A1,stop_gained,p.Arg1568Ter,ENST00000322507,;COL12A1,stop_gained,p.Arg310Ter,ENST00000419671,;COL12A1,stop_gained,p.Arg1568Ter,ENST00000483888,;COL12A1,stop_gained,p.Arg404Ter,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000474564,;	5012	116	194	SUCCESS
RWDD2A	112611	.	GRCh37	6	83904246	83904249	+	frameshift_variant	Frame_Shift_Del	DEL	CAAG	CAAG	-	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	CAAG	CAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	100	16	113	0	ENST00000369724.4:c.76_79del	p.Gln26GlufsTer3	p.Q26Efs*3	ENST00000369724	NM_033411.3	26	CAAGga/ga	0	.	.	.	.	.	-	QG/X	protein_coding	YES	CCDS4998.1	76-79	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTAACCAAGGAGAA	NONE	.	.	PROSITE_profiles:PS50908,hmmpanther:PTHR15955,hmmpanther:PTHR15955:SF2,Pfam_domain:PF05773,Gene3D:3.10.110.10,SMART_domains:SM00591,PIRSF_domain:PIRSF038021,Superfamily_domains:SSF54495	.	.	ENSP00000358739	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000369724	Transcript	.	.	ENSG00000013392	21385	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RWD2A_HUMAN	RWDD2A	HGNC	.	.	UPI0000139BF2	deletion	RWDD2A,splice_acceptor_variant,,ENST00000539997,;RWDD2A,frameshift_variant,p.Gln26GlufsTer3,ENST00000369724,;PGM3,upstream_gene_variant,,ENST00000503094,;PGM3,upstream_gene_variant,,ENST00000512866,;PGM3,upstream_gene_variant,,ENST00000513973,;PGM3,upstream_gene_variant,,ENST00000283977,;PGM3,upstream_gene_variant,,ENST00000510258,;PGM3,upstream_gene_variant,,ENST00000508748,;PGM3,upstream_gene_variant,,ENST00000506587,;PGM3,upstream_gene_variant,,ENST00000507554,;PGM3,upstream_gene_variant,,ENST00000515333,;PGM3,upstream_gene_variant,,ENST00000505470,;	281-284	113	116	SUCCESS
TBX18	9096	.	GRCh37	6	85446949	85446949	+	synonymous_variant	Silent	SNP	G	G	A	rs771176205	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	25	168	0	ENST00000369663.5:c.1278C>T	p.Thr426=	p.T426=	ENST00000369663	NM_001080508.2	426	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34495.1	1278	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGGTGAG	BUFFER|p.R429L|c.1286G>T|3	.	.	hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	rs771176205	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	SNV	TBX18,synonymous_variant,p.%3D,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;TBX18,downstream_gene_variant,,ENST00000606521,;	1616	168	164	SUCCESS
TBX18	9096	.	GRCh37	6	85446950	85446950	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	26	166	0	ENST00000369663.5:c.1277C>A	p.Thr426Asn	p.T426N	ENST00000369663	NM_001080508.2	426	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS34495.1	1277	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGTGAGG	BUFFER|p.R429L|c.1286G>T|3	.	.	hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.127)	.	deleterious(0.04)	.	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	SNV	TBX18,missense_variant,p.Thr426Asn,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;TBX18,downstream_gene_variant,,ENST00000606521,;	1615	166	166	SUCCESS
DLD	1738	.	GRCh37	7	107531624	107531624	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	52	0	ENST00000205402.5:c.-72A>G		p.*24*	ENST00000205402	NM_000108.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5749.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGAGACCT	NONE	.	.	.	.	.	ENSP00000205402	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000205402	Transcript	.	.	ENSG00000091140	2898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLDH_HUMAN	DLD	HGNC	B4DHG0_HUMAN	.	UPI0000072725	SNV	DLD,5_prime_UTR_variant,,ENST00000205402,;DLD,5_prime_UTR_variant,,ENST00000437604,;DLD,5_prime_UTR_variant,,ENST00000537148,;DLD,5_prime_UTR_variant,,ENST00000440410,;DLD,upstream_gene_variant,,ENST00000494441,;DLD,upstream_gene_variant,,ENST00000453354,;DLD,5_prime_UTR_variant,,ENST00000417551,;DLD,5_prime_UTR_variant,,ENST00000415325,;DLD,non_coding_transcript_exon_variant,,ENST00000485066,;DLD,upstream_gene_variant,,ENST00000450038,;DLD,upstream_gene_variant,,ENST00000451081,;DLD,upstream_gene_variant,,ENST00000460577,;	210	53	37	SUCCESS
IQUB	154865	.	GRCh37	7	123092919	123092919	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772051410	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	256	66	279	0	ENST00000324698.6:c.2254T>A	p.Phe752Ile	p.F752I	ENST00000324698	NM_178827.4	752	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS5787.1	2254	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAATAGT	NONE	.	.	hmmpanther:PTHR21074:SF0,hmmpanther:PTHR21074	.	.	ENSP00000417769	.	13/13	.	.	.	.	.	.	.	.	rs772051410	13/13	PASS	ENST00000466202	Transcript	.	.	ENSG00000164675	21995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IQUB_HUMAN	IQUB	HGNC	.	.	UPI000013E3DF	SNV	IQUB,missense_variant,p.Phe752Ile,ENST00000324698,;IQUB,missense_variant,p.Phe752Ile,ENST00000466202,;RP11-332K15.1,upstream_gene_variant,,ENST00000419832,;IQUB,3_prime_UTR_variant,,ENST00000484508,;IQUB,3_prime_UTR_variant,,ENST00000469057,;	2831	279	322	SUCCESS
METTL2B	55798	.	GRCh37	7	128119312	128119312	+	synonymous_variant	Silent	SNP	T	T	G	rs775806638	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	451	102	475	0	ENST00000262432.8:c.303T>G	p.Pro101=	p.P101=	ENST00000262432	NM_018396.2	101	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5803.2	303	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTGAGCT	NONE	.	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF4,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335	.	.	ENSP00000262432	.	3/9	.	.	.	.	.	.	.	.	rs775806638	3/9	PASS	ENST00000262432	Transcript	.	.	ENSG00000165055	18272	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MET2B_HUMAN	METTL2B	HGNC	.	.	UPI000020FA36	SNV	METTL2B,synonymous_variant,p.%3D,ENST00000262432,;METTL2B,synonymous_variant,p.%3D,ENST00000480046,;METTL2B,upstream_gene_variant,,ENST00000419443,;RP11-212P7.3,non_coding_transcript_exon_variant,,ENST00000462662,;METTL2B,upstream_gene_variant,,ENST00000473488,;METTL2B,3_prime_UTR_variant,,ENST00000497665,;METTL2B,non_coding_transcript_exon_variant,,ENST00000482555,;	340	476	554	SUCCESS
HTR5A	3361	.	GRCh37	7	154862969	154862969	+	synonymous_variant	Silent	SNP	C	C	T	rs757620241	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	29	0	ENST00000287907.2:c.360C>T	p.Cys120=	p.C120=	ENST00000287907	NM_024012.3	120	tgC/tgT	0	.	.	.	.	.	T	S	protein_coding	YES	.	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCGACGT	NONE	.	.	.	.	.	ENSP00000441588	.	1/3	.	.	.	.	.	.	.	.	rs757620241	1/3	PASS	ENST00000543018	Transcript	.	.	ENSG00000220575	48956	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HTR5A-AS1	HGNC	B7Z8E6_HUMAN	.	UPI00019152D0	SNV	HTR5A-AS1,synonymous_variant,p.%3D,ENST00000395731,;HTR5A,synonymous_variant,p.%3D,ENST00000287907,;HTR5A-AS1,synonymous_variant,p.%3D,ENST00000543018,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;	299	29	33	SUCCESS
HDAC9	9734	.	GRCh37	7	18833076	18833076	+	splice_donor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	25	121	0	ENST00000432645.2:c.2313+1G>A		p.X771_splice	ENST00000432645	NM_058176.2	771		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47553.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGTGAGG	NONE	.	.	.	.	.	ENSP00000408617	.	.	.	.	.	.	.	.	.	.	COSM452817,COSM452816	.	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	HIGH	16/24	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,splice_donor_variant,,ENST00000401921,;HDAC9,splice_donor_variant,,ENST00000406451,;HDAC9,splice_donor_variant,,ENST00000432645,;HDAC9,splice_donor_variant,,ENST00000441542,;HDAC9,splice_donor_variant,,ENST00000461159,;HDAC9,splice_donor_variant,,ENST00000523867,;HDAC9,splice_donor_variant,,ENST00000490851,;	.	121	129	SUCCESS
STEAP1B	256227	.	GRCh37	7	22533400	22533400	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	414	103	453	0	ENST00000406890.2:c.85-2A>T		p.X29_splice	ENST00000406890	NM_207342.2	29		0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS56469.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTGCAAA	NONE	.	.	hmmpanther:PTHR14239:SF3,hmmpanther:PTHR14239	.	.	ENSP00000384370	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000404369	Transcript	.	.	ENSG00000105889	41907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious_low_confidence(0.03)	.	.	STEAP1B	HGNC	C9JL51_HUMAN,C9JE84_HUMAN,B5MCI2_HUMAN	.	UPI000173A267	SNV	STEAP1B,splice_acceptor_variant,,ENST00000406890,;STEAP1B,missense_variant,p.Gln47Leu,ENST00000404369,;STEAP1B,missense_variant,p.Gln47Leu,ENST00000424363,;STEAP1B,missense_variant,p.Gln47Leu,ENST00000439708,;STEAP1B,non_coding_transcript_exon_variant,,ENST00000483679,;	556	453	517	SUCCESS
ADCYAP1R1	117	.	GRCh37	7	31146160	31146160	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	97	0	ENST00000304166.4:c.1269C>A	p.Tyr423Ter	p.Y423*	ENST00000304166	NM_001199636.1	423	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS56480.1	1353	MUTECT|MUSE|VARSCANS	.	CGTTACTTCGC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Prints_domain:PR01156	.	.	ENSP00000379514	.	16/16	.	.	.	.	.	.	.	.	COSM1161676	16/16	PASS	ENST00000396211	Transcript	.	.	ENSG00000078549	242	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PACR_HUMAN	ADCYAP1R1	HGNC	Q6S991_HUMAN,Q6RKA2_HUMAN,C9JVH3_HUMAN	.	UPI0000DA58BA	SNV	ADCYAP1R1,stop_gained,p.Tyr402Ter,ENST00000409363,;ADCYAP1R1,stop_gained,p.Tyr479Ter,ENST00000409489,;ADCYAP1R1,stop_gained,p.Tyr423Ter,ENST00000304166,;ADCYAP1R1,stop_gained,p.Tyr451Ter,ENST00000396211,;ADCYAP1R1,downstream_gene_variant,,ENST00000436116,;	1424	97	98	SUCCESS
PON1	5444	.	GRCh37	7	94947702	94947702	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	138	0	ENST00000222381.3:c.78A>C	p.Thr26=	p.T26=	ENST00000222381	NM_000446.5	26	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS5638.1	78	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGTGTTCT	BUFFER|p.R27*|c.79C>T|3	.	.	hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF3,Gene3D:2.120.10.30,Superfamily_domains:SSF63829,Prints_domain:PR01786	.	.	ENSP00000222381	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000222381	Transcript	.	.	ENSG00000005421	9204	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PON1_HUMAN	PON1	HGNC	.	.	UPI000013C7FD	SNV	PON1,synonymous_variant,p.%3D,ENST00000222381,;PON1,intron_variant,,ENST00000542556,;PON1,synonymous_variant,p.%3D,ENST00000433729,;PON1,non_coding_transcript_exon_variant,,ENST00000470502,;	310	138	129	SUCCESS
DLX6	1750	.	GRCh37	7	96639126	96639126	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	27	162	0	ENST00000518156.2:c.649A>T	p.Asn217Tyr	p.N217Y	ENST00000518156		217	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS47647.2	649	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGAACAAA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24327:SF26,hmmpanther:PTHR24327,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00031,Prints_domain:PR00024	.	.	ENSP00000428480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000518156	Transcript	.	.	ENSG00000006377	2919	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	DLX6_HUMAN	DLX6	HGNC	.	.	UPI0000EE57E0	SNV	DLX6,missense_variant,p.Asn189Tyr,ENST00000007660,;DLX6,missense_variant,p.Asn217Tyr,ENST00000518156,;DLX6,missense_variant,p.Asn89Tyr,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS2,upstream_gene_variant,,ENST00000606174,;DLX6,non_coding_transcript_exon_variant,,ENST00000493273,;	1079	162	205	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110432768	110432768	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs547689763	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	104	168	0	ENST00000378402.5:c.2546C>A	p.Pro849His	p.P849H	ENST00000378402	NM_177531.4	849	cCt/cAt	0	.	T:0.0008	.	T:0	.	A	P/H	protein_coding	YES	CCDS47911.1	2546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCTGCAT	NONE	by1000G	.	.	T:0	.	ENSP00000367655	T:0	23/78	.	.	.	.	.	.	.	.	rs547689763,COSM3884687	23/78	PASS	ENST00000378402	Transcript	.	T:0.0002	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.924)	T:0	deleterious(0)	0,1	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Pro849His,ENST00000378402,;	2650	168	316	SUCCESS
HAS2	3037	.	GRCh37	8	122627257	122627257	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	25	87	0	ENST00000303924.4:c.751T>A	p.Trp251Arg	p.W251R	ENST00000303924	NM_005328.2	251	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS6335.1	751	RADIA|MUTECT|MUSE|VARSCANS	.	GATCCAGGAAT	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Pfam_domain:PF03142,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000306991	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303924	Transcript	.	.	ENSG00000170961	4819	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HYAS2_HUMAN	HAS2	HGNC	.	.	UPI000012C0A9	SNV	HAS2,missense_variant,p.Trp251Arg,ENST00000303924,;	1289	87	154	SUCCESS
HHLA1	10086	.	GRCh37	8	133090141	133090141	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1438636104	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	19	116	0	ENST00000414222.1:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000414222	NM_001145095.1	335	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1111	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCCCAGG	NONE	.	.	hmmpanther:PTHR15299	.	.	ENSP00000407107	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000434736	Transcript	.	.	ENSG00000132297	4904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.19)	.	.	HHLA1	HGNC	C9JY47_HUMAN	.	UPI00021CEF49	SNV	OC90,missense_variant,p.Ala77Thr,ENST00000262283,;HHLA1,missense_variant,p.Ala371Thr,ENST00000434736,;HHLA1,missense_variant,p.Ala335Thr,ENST00000414222,;HHLA1,non_coding_transcript_exon_variant,,ENST00000473291,;	1197	116	183	SUCCESS
FAM83H	286077	.	GRCh37	8	144812668	144812668	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1554624202	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	27	0	ENST00000388913.3:c.85C>T	p.Arg29Cys	p.R29C	ENST00000388913	NM_198488.3	29	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS6410.2	85	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGGTAGT	NONE	.	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8,Pfam_domain:PF07894	.	.	ENSP00000373565	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,missense_variant,p.Arg29Cys,ENST00000388913,;MIR4664,downstream_gene_variant,,ENST00000583819,;FAM83H-AS1,upstream_gene_variant,,ENST00000533004,;FAM83H,upstream_gene_variant,,ENST00000395103,;	211	27	21	SUCCESS
TNFRSF10D	8793	.	GRCh37	8	23002148	23002148	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	97	0	ENST00000312584.3:c.769G>T	p.Val257Phe	p.V257F	ENST00000312584	NM_003840.4	257	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS6038.1	769	RADIA|MUSE|VARSCANS	.	AAGGACCTTGG	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF89	.	.	ENSP00000310263	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000312584	Transcript	.	.	ENSG00000173530	11907	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	tolerated(0.06)	.	TR10D_HUMAN	TNFRSF10D	HGNC	.	.	UPI0000167BBC	SNV	TNFRSF10D,missense_variant,p.Val257Phe,ENST00000312584,;	864	97	80	SUCCESS
STC1	6781	.	GRCh37	8	23712004	23712004	+	synonymous_variant	Silent	SNP	C	C	T	rs868282289	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	57	207	0	ENST00000290271.2:c.33G>A	p.Leu11=	p.L11=	ENST00000290271	NM_003155.2	11	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6043.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCAGCAC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11245:SF1,hmmpanther:PTHR11245,Pfam_domain:PF03298	.	.	ENSP00000290271	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000290271	Transcript	.	.	ENSG00000159167	11373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STC1_HUMAN	STC1	HGNC	Q71UE5_HUMAN,B4DN22_HUMAN	.	UPI00001360B4	SNV	STC1,synonymous_variant,p.%3D,ENST00000290271,;STC1,upstream_gene_variant,,ENST00000524323,;	317	207	240	SUCCESS
PXDNL	137902	.	GRCh37	8	52366111	52366111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	88	281	1	ENST00000356297.4:c.1217C>A	p.Thr406Asn	p.T406N	ENST00000356297	NM_144651.4	406	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS47855.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGTGCCG	NONE	.	.	PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348645	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.1)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Thr406Asn,ENST00000543296,;PXDNL,missense_variant,p.Thr406Asn,ENST00000356297,;	1318	282	300	SUCCESS
IMPAD1	0	.	GRCh37	8	57876515	57876515	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs777949538	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	233	61	245	0	ENST00000262644.4:c.917C>G	p.Ala306Gly	p.A306G	ENST00000262644	NM_017813.4	306	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS6169.1	917	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCATTA	NONE	.	.	Superfamily_domains:SSF56655,Pfam_domain:PF00459,Gene3D:3.40.190.80,PROSITE_patterns:PS00630,hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF23	.	.	ENSP00000262644	.	5/5	.	.	.	.	.	.	.	.	rs777949538,COSM281920	5/5	PASS	ENST00000262644	Transcript	1	.	ENSG00000104331	26019	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	IMPA3_HUMAN	IMPAD1	HGNC	.	.	UPI000006DE7A	SNV	IMPAD1,missense_variant,p.Ala306Gly,ENST00000262644,;IMPAD1,downstream_gene_variant,,ENST00000517461,;IMPAD1,3_prime_UTR_variant,,ENST00000520392,;	1176	245	295	SUCCESS
NCOA2	10499	.	GRCh37	8	71068895	71068895	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1411121418	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	24	145	0	ENST00000452400.2:c.1705A>G	p.Met569Val	p.M569V	ENST00000452400	NM_006540.2	569	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS47872.1	1705	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATATTAA	NONE	.	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000399968	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.57)	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,missense_variant,p.Met569Val,ENST00000452400,;NCOA2,non_coding_transcript_exon_variant,,ENST00000524223,;NCOA2,missense_variant,p.Met569Val,ENST00000518287,;	1887	145	146	SUCCESS
PLEKHF2	79666	.	GRCh37	8	96166845	96166845	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs200210769	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	416	84	337	1	ENST00000315367.3:c.573T>G	p.Phe191Leu	p.F191L	ENST00000315367	NM_024613.3	191	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS6267.1	573	RADIA|MUTECT|MUSE|VARSCANS	.	AGATTTCTTCT	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR22835:SF136,hmmpanther:PTHR22835,Gene3D:3.30.40.10,Pfam_domain:PF01363,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000322373	.	2/2	.	.	.	.	.	.	.	.	rs200210769	2/2	PASS	ENST00000315367	Transcript	.	.	ENSG00000175895	20757	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	deleterious(0.03)	.	PKHF2_HUMAN	PLEKHF2	HGNC	.	.	UPI0000035DB0	SNV	PLEKHF2,missense_variant,p.Phe191Leu,ENST00000315367,;PLEKHF2,missense_variant,p.Phe191Leu,ENST00000519516,;	814	338	500	SUCCESS
RALGDS	5900	.	GRCh37	9	135975401	135975401	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	16	0	ENST00000372050.3:c.2569+254A>G		p.*857*	ENST00000372050	NM_006266.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6959.1	.	MUTECT|MUSE	.	AAAAATGCCTT	NONE	.	.	.	.	.	ENSP00000361120	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372050	Transcript	.	.	ENSG00000160271	9842	.	.	MODIFIER	17/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNDS_HUMAN	RALGDS	HGNC	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN	.	UPI000012B8BC	SNV	RALGDS,intron_variant,,ENST00000393160,;RALGDS,intron_variant,,ENST00000372047,;RALGDS,intron_variant,,ENST00000372062,;RALGDS,intron_variant,,ENST00000372050,;RALGDS,intron_variant,,ENST00000393157,;RALGDS,intron_variant,,ENST00000542690,;RALGDS,downstream_gene_variant,,ENST00000424572,;RALGDS,non_coding_transcript_exon_variant,,ENST00000469972,;RALGDS,non_coding_transcript_exon_variant,,ENST00000477660,;RALGDS,non_coding_transcript_exon_variant,,ENST00000482648,;RALGDS,intron_variant,,ENST00000493438,;RALGDS,intron_variant,,ENST00000498797,;RALGDS,intron_variant,,ENST00000495621,;RALGDS,downstream_gene_variant,,ENST00000493067,;RALGDS,downstream_gene_variant,,ENST00000471109,;RALGDS,downstream_gene_variant,,ENST00000460587,;	.	16	9	SUCCESS
DENND4C	55667	.	GRCh37	9	19325935	19325935	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	298	66	258	0	ENST00000602925.1:c.1954-2A>G		p.X652_splice	ENST00000602925	NM_017925.5	652		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6491.3	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTAGTTGT	NONE	.	.	.	.	.	ENSP00000473565	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	HIGH	13/31	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,splice_acceptor_variant,,ENST00000380432,;DENND4C,splice_acceptor_variant,,ENST00000434457,;DENND4C,splice_acceptor_variant,,ENST00000602925,;DENND4C,splice_acceptor_variant,,ENST00000380437,;DENND4C,splice_acceptor_variant,,ENST00000494124,;	.	259	364	SUCCESS
ACO1	48	.	GRCh37	9	32418350	32418350	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	301	59	352	0	ENST00000309951.6:c.499A>G	p.Met167Val	p.M167V	ENST00000309951	NM_002197.2	167	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS6525.1	499	RADIA|MUTECT|MUSE|VARSCANS	.	ACAACATGCGG	NONE	.	.	hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Gene3D:3.30.499.10,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF53732,Prints_domain:PR00415	.	.	ENSP00000309477	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000309951	Transcript	.	.	ENSG00000122729	117	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.44)	.	ACOC_HUMAN	ACO1	HGNC	Q9HBB2_HUMAN	.	UPI000012D87E	SNV	ACO1,missense_variant,p.Met167Val,ENST00000379923,;ACO1,missense_variant,p.Met167Val,ENST00000309951,;ACO1,missense_variant,p.Met68Val,ENST00000541043,;	637	352	360	SUCCESS
PRSS3	5646	.	GRCh37	9	33798477	33798477	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	210	52	275	0	ENST00000361005.5:c.626-7C>G		p.X209_splice	ENST00000361005	NM_007343.3	209		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47958.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCTCACA	NONE	.	.	.	.	.	ENSP00000354280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361005	Transcript	.	.	ENSG00000010438	9486	.	.	LOW	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRY3_HUMAN	PRSS3	HGNC	.	.	UPI000013C519	SNV	PRSS3,splice_region_variant,,ENST00000379405,;PRSS3,splice_region_variant,,ENST00000342836,;PRSS3,splice_region_variant,,ENST00000361005,;PRSS3,splice_region_variant,,ENST00000429677,;PRSS3,splice_region_variant,,ENST00000457896,;RP11-133O22.6,non_coding_transcript_exon_variant,,ENST00000454429,;PRSS3,downstream_gene_variant,,ENST00000477653,;PRSS3,downstream_gene_variant,,ENST00000468152,;PRSS3,upstream_gene_variant,,ENST00000495682,;	.	275	263	SUCCESS
ANKRD18A	253650	.	GRCh37	9	38596174	38596174	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs528054598	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	751	176	645	1	ENST00000399703.5:c.1163C>A	p.Ser388Ter	p.S388*	ENST00000399703	NM_147195.2	388	tCg/tAg	0	.	A:0.0008	.	A:0	.	T	S/*	protein_coding	YES	CCDS55311.1	1163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCGAATAC	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF3,Pfam_domain:PF14915	A:0	.	ENSP00000382610	A:0	9/16	.	.	.	.	.	.	.	.	rs528054598	9/16	PASS	ENST00000399703	Transcript	.	A:0.0002	ENSG00000180071	23643	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	AN18A_HUMAN	ANKRD18A	HGNC	.	.	UPI00001AF4AF	SNV	ANKRD18A,stop_gained,p.Ser388Ter,ENST00000399703,;ANKRD18A,upstream_gene_variant,,ENST00000602295,;ANKRD18A,downstream_gene_variant,,ENST00000475234,;	1538	646	927	SUCCESS
ATP1B4	23439	.	GRCh37	X	119505028	119505028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	84	0	ENST00000218008.3:c.525G>T	p.Trp175Cys	p.W175C	ENST00000218008	NM_001142447.2	175	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS48158.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGCAGCA	NONE	.	.	hmmpanther:PTHR11523:SF12,hmmpanther:PTHR11523,Pfam_domain:PF00287,TIGRFAM_domain:TIGR01107,Gene3D:2zxeB02	.	.	ENSP00000218008	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000218008	Transcript	.	.	ENSG00000101892	808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT1B4_HUMAN	ATP1B4	HGNC	.	.	UPI00001262A4	SNV	ATP1B4,missense_variant,p.Trp132Cys,ENST00000539306,;ATP1B4,missense_variant,p.Trp175Cys,ENST00000218008,;ATP1B4,missense_variant,p.Trp171Cys,ENST00000361319,;	582	84	131	SUCCESS
MED14	9282	.	GRCh37	X	40572166	40572166	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	129	245	0	ENST00000324817.1:c.781G>A	p.Asp261Asn	p.D261N	ENST00000324817	NM_004229.3	261	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS14254.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCTCCTG	NONE	.	.	hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2	.	.	ENSP00000323720	.	6/31	.	.	.	.	.	.	.	.	.	6/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.1)	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,missense_variant,p.Asp261Asn,ENST00000324817,;MED14,downstream_gene_variant,,ENST00000492219,;MED14,downstream_gene_variant,,ENST00000482034,;	900	245	324	SUCCESS
JADE3	9767	.	GRCh37	X	46844301	46844301	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	62	190	0	ENST00000218343.4:c.6A>G	p.Lys2=	p.K2=	ENST00000218343	NM_014735.3	2	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS14271.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAACGCCA	NONE	.	.	hmmpanther:PTHR13793:SF27,hmmpanther:PTHR13793	.	.	ENSP00000218343	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000218343	Transcript	.	.	ENSG00000102221	22982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JADE3_HUMAN	JADE3	HGNC	F2Z3N8_HUMAN,F2Z2B6_HUMAN	.	UPI0000073DE6	SNV	JADE3,synonymous_variant,p.%3D,ENST00000218343,;JADE3,synonymous_variant,p.%3D,ENST00000397189,;JADE3,synonymous_variant,p.%3D,ENST00000455411,;JADE3,synonymous_variant,p.%3D,ENST00000424392,;	304	190	190	SUCCESS
RPS4Y2	140032	.	GRCh37	Y	22941543	22941543	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	123	325	0	ENST00000288666.5:c.681C>T	p.Val227=	p.V227=	ENST00000288666	NM_001039567.2	227	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44028.1	681	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTGTCATTGG	NONE	.	.	HAMAP:MF_00485,hmmpanther:PTHR11581,hmmpanther:PTHR11581:SF7,PIRSF_domain:PIRSF002116	.	.	ENSP00000288666	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000288666	Transcript	.	.	ENSG00000157828	18501	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RS4Y2_HUMAN	RPS4Y2	HGNC	.	.	UPI000016788E	SNV	RPS4Y2,synonymous_variant,p.%3D,ENST00000288666,;	681	325	295	SUCCESS
MASTL	84930	.	GRCh37	10	27459791	27459791	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	44	97	0	ENST00000375940.4:c.1903A>T	p.Met635Leu	p.M635L	ENST00000375940		635	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS53502.1	1903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAATGTTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,SMART_domains:SM00220	.	.	ENSP00000365107	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000375940	Transcript	1	.	ENSG00000120539	19042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.49)	.	GWL_HUMAN	MASTL	HGNC	.	.	UPI000004060D	SNV	MASTL,missense_variant,p.Met635Leu,ENST00000375946,;MASTL,missense_variant,p.Met635Leu,ENST00000375940,;MASTL,missense_variant,p.Met635Leu,ENST00000342386,;MASTL,non_coding_transcript_exon_variant,,ENST00000477034,;	1960	97	128	SUCCESS
ERCC6	2074	.	GRCh37	10	50732464	50732464	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	570	337	664	1	ENST00000355832.5:c.1012A>T	p.Arg338Trp	p.R338W	ENST00000355832	NM_000124.3	338	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS60529.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTCTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799	.	.	ENSP00000423550	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000515869	Transcript	.	.	ENSG00000258838	48347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	.	ERCC6-PGBD3	HGNC	E7EV46_HUMAN,D6R9X7_HUMAN	.	UPI00001F98BA	SNV	ERCC6-PGBD3,missense_variant,p.Arg338Trp,ENST00000515869,;ERCC6,missense_variant,p.Arg338Trp,ENST00000355832,;ERCC6-PGBD3,missense_variant,p.Arg338Trp,ENST00000447839,;PGBD3,missense_variant,p.Arg338Trp,ENST00000603152,;PGBD3,upstream_gene_variant,,ENST00000374127,;ERCC6,downstream_gene_variant,,ENST00000479652,;	1133	665	907	SUCCESS
GATA3-AS1	399717	.	GRCh37	10	8093125	8093125	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs563461889	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	89	116	0	ENST00000355358.1:n.1502C>A		p.*501*	ENST00000355358				0	.	C:0	.	C:0.0101	.	T	.	protein_coding	YES	CCDS31143.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGAGGGA	NONE	byFrequency|by1000G	3531	.	C:0	.	ENSP00000368632	C:0	.	.	.	.	.	.	.	.	.	rs563461889	.	PASS	ENST00000379328	Transcript	1	C:0.0014	ENSG00000107485	4172	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	GATA3_HUMAN	GATA3	HGNC	.	.	UPI000002AA34	SNV	GATA3,upstream_gene_variant,,ENST00000346208,;GATA3,upstream_gene_variant,,ENST00000379328,;GATA3-AS1,non_coding_transcript_exon_variant,,ENST00000355358,;GATA3-AS1,intron_variant,,ENST00000420815,;GATA3-AS1,intron_variant,,ENST00000438755,;RP11-379F12.3,downstream_gene_variant,,ENST00000458727,;RP11-379F12.4,upstream_gene_variant,,ENST00000418270,;RP11-379F12.3,downstream_gene_variant,,ENST00000417359,;GATA3,upstream_gene_variant,,ENST00000481743,;	.	117	191	SUCCESS
CYP26A1	1592	.	GRCh37	10	94834174	94834174	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	24	0	ENST00000224356.4:c.299T>C	p.Ile100Thr	p.I100T	ENST00000224356	NM_000783.3	100	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7426.1	299	RADIA|VARSCANS	.	GCGCATCTTGC	NONE	.	.	hmmpanther:PTHR24288:SF1,hmmpanther:PTHR24288,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000224356	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000224356	Transcript	.	.	ENSG00000095596	2603	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CP26A_HUMAN	CYP26A1	HGNC	.	.	UPI000013E48F	SNV	CYP26A1,missense_variant,p.Ile31Thr,ENST00000394139,;CYP26A1,missense_variant,p.Ile100Thr,ENST00000224356,;CYP26A1,missense_variant,p.Ile31Thr,ENST00000371531,;	344	24	37	SUCCESS
PTPN5	84867	.	GRCh37	11	18751279	18751279	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	35	0	ENST00000358540.2:c.1416G>A	p.Leu472=	p.L472=	ENST00000358540	NM_006906.1	472	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7845.1	1416	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCAGGAG	NONE	.	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR01778	.	.	ENSP00000351342	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000358540	Transcript	.	.	ENSG00000110786	9657	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTN5_HUMAN	PTPN5	HGNC	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN	.	UPI00001AE663	SNV	PTPN5,synonymous_variant,p.%3D,ENST00000358540,;PTPN5,synonymous_variant,p.%3D,ENST00000396170,;PTPN5,synonymous_variant,p.%3D,ENST00000396166,;PTPN5,synonymous_variant,p.%3D,ENST00000396167,;PTPN5,synonymous_variant,p.%3D,ENST00000396171,;PTPN5,synonymous_variant,p.%3D,ENST00000396168,;PTPN5,synonymous_variant,p.%3D,ENST00000477854,;IGSF22,upstream_gene_variant,,ENST00000513874,;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,upstream_gene_variant,,ENST00000412229,;IGSF22,upstream_gene_variant,,ENST00000319338,;IGSF22,upstream_gene_variant,,ENST00000504981,;	1847	35	46	SUCCESS
SLC22A18	5002	.	GRCh37	11	2939298	2939298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	87	0	ENST00000312221.5:c.736G>T	p.Val246Leu	p.V246L	ENST00000312221	NM_002555.5	246	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS7740.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTGAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24002,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000369948	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000380574	Transcript	.	.	ENSG00000110628	10964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	deleterious(0.02)	.	S22AI_HUMAN	SLC22A18	HGNC	Q69YM4_HUMAN,E9PMN7_HUMAN	.	UPI0000070F3F	SNV	SLC22A18,missense_variant,p.Val148Leu,ENST00000449793,;SLC22A18,missense_variant,p.Val246Leu,ENST00000347936,;SLC22A18,missense_variant,p.Val246Leu,ENST00000380574,;SLC22A18,missense_variant,p.Val246Leu,ENST00000312221,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000441077,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000498209,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000449603,;SLC22A18,downstream_gene_variant,,ENST00000492567,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000467719,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000463571,;SLC22A18,upstream_gene_variant,,ENST00000495518,;	1167	87	122	SUCCESS
OR5M10	390167	.	GRCh37	11	56345082	56345082	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs375773400	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	293	183	386	1	ENST00000526812.2:c.116T>A	p.Leu39Gln	p.L39Q	ENST00000526812	NM_001004741.1	39	cTg/cAg	0	G:0	.	.	.	.	T	L/Q	protein_coding	YES	CCDS53630.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAGTGTG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98	.	G:0.0001	ENSP00000436004	.	1/1	.	.	.	.	.	.	.	.	rs375773400	1/1	PASS	ENST00000526812	Transcript	.	.	ENSG00000254834	15290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	OR5MA_HUMAN	OR5M10	HGNC	.	.	UPI0000041BEE	SNV	OR5M10,missense_variant,p.Leu39Gln,ENST00000526812,;	182	387	476	SUCCESS
NUMA1	4926	.	GRCh37	11	71721833	71721833	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	23	0	ENST00000393695.3:c.4718A>C	p.Lys1573Thr	p.K1573T	ENST00000393695	NM_006185.2	1573	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS31633.1	4718	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	.	.	ENSP00000377298	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000393695	Transcript	.	.	ENSG00000137497	8059	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.894)	.	.	.	NUMA1_HUMAN	NUMA1	HGNC	Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN	.	UPI000013DB8B	SNV	NUMA1,missense_variant,p.Lys1573Thr,ENST00000393695,;NUMA1,missense_variant,p.Lys1559Thr,ENST00000358965,;NUMA1,missense_variant,p.Lys404Thr,ENST00000541584,;NUMA1,missense_variant,p.Lys437Thr,ENST00000351960,;NUMA1,downstream_gene_variant,,ENST00000537217,;NUMA1,downstream_gene_variant,,ENST00000542977,;RP11-849H4.4,upstream_gene_variant,,ENST00000502284,;NUMA1,upstream_gene_variant,,ENST00000541262,;NUMA1,missense_variant,p.Lys163Thr,ENST00000545721,;NUMA1,upstream_gene_variant,,ENST00000546036,;NUMA1,downstream_gene_variant,,ENST00000540588,;NUMA1,upstream_gene_variant,,ENST00000540626,;	5050	23	37	SUCCESS
PRB3	5544	.	GRCh37	12	11420654	11420654	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	171	181	1	ENST00000381842.3:c.529C>A	p.Pro177Thr	p.P177T	ENST00000381842	NM_006249.4	177	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	.	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGGGGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,Pfam_domain:PF15240,Pfam_domain:PF15240	.	.	ENSP00000371264	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000381842	Transcript	.	.	ENSG00000197870	9339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.06)	.	PRB3_HUMAN	PRB3	HGNC	.	.	UPI0000E67202	SNV	PRB3,missense_variant,p.Pro177Thr,ENST00000381842,;PRB3,missense_variant,p.Pro156Thr,ENST00000538488,;PRB3,missense_variant,p.Pro177Thr,ENST00000279573,;PRB3,intron_variant,,ENST00000440870,;PRB3,downstream_gene_variant,,ENST00000539835,;	567	182	393	SUCCESS
KRT78	196374	.	GRCh37	12	53237937	53237937	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	137	256	0	ENST00000304620.4:c.987C>T	p.Ile329=	p.I329=	ENST00000304620	NM_173352.2	329	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS8840.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGAGATCTG	NONE	.	.	Prints_domain:PR01276,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF127,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000306261	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000304620	Transcript	.	.	ENSG00000170423	28926	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C78_HUMAN	KRT78	HGNC	F8VS93_HUMAN,B4DQ49_HUMAN	.	UPI00001AEDBE	SNV	KRT78,synonymous_variant,p.%3D,ENST00000359499,;KRT78,synonymous_variant,p.%3D,ENST00000304620,;KRT78,upstream_gene_variant,,ENST00000547920,;KRT78,downstream_gene_variant,,ENST00000547110,;KRT78,downstream_gene_variant,,ENST00000551581,;	1051	256	366	SUCCESS
OR6C75	390323	.	GRCh37	12	55759521	55759521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	272	159	371	1	ENST00000343399.3:c.627G>T	p.Leu209Phe	p.L209F	ENST00000343399	NM_001005497.1	209	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31820.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTGACATT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,PROSITE_profiles:PS50262	.	.	ENSP00000368987	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343399	Transcript	.	.	ENSG00000187857	31304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.02)	.	O6C75_HUMAN	OR6C75	HGNC	.	.	UPI000023786C	SNV	OR6C75,missense_variant,p.Leu209Phe,ENST00000343399,;	627	372	431	SUCCESS
B4GALNT3	283358	.	GRCh37	12	668557	668557	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	59	0	ENST00000266383.5:c.2858G>A	p.Trp953Ter	p.W953*	ENST00000266383	NM_173593.3	953	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS8504.1	2858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTGGGGCG	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000266383	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,stop_gained,p.Trp953Ter,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;NINJ2,downstream_gene_variant,,ENST00000305108,;NINJ2,downstream_gene_variant,,ENST00000397265,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	2871	59	82	SUCCESS
NTS	4922	.	GRCh37	12	86268174	86268174	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	40	116	1	ENST00000256010.6:c.-8G>C		p.*3*	ENST00000256010	NM_006183.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9029.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCTGAA	NONE	.	.	.	.	.	ENSP00000256010	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000256010	Transcript	.	.	ENSG00000133636	8038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEUT_HUMAN	NTS	HGNC	Q86U50_HUMAN,Q6FH20_HUMAN	.	UPI0000000CAD	SNV	NTS,5_prime_UTR_variant,,ENST00000256010,;NTS,5_prime_UTR_variant,,ENST00000551529,;NTS,upstream_gene_variant,,ENST00000550879,;	100	117	138	SUCCESS
NALCN	259232	.	GRCh37	13	101717813	101717813	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	33	59	0	ENST00000251127.6:c.4547G>A	p.Cys1516Tyr	p.C1516Y	ENST00000251127	NM_052867.2	1516	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS9498.1	4547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAGCACATG	NONE	.	.	hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037	.	.	ENSP00000251127	.	40/44	.	.	.	.	.	.	.	.	.	40/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,missense_variant,p.Cys1516Tyr,ENST00000251127,;	4629	59	112	SUCCESS
TNFRSF19	55504	.	GRCh37	13	24243206	24243206	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	23	42	0	ENST00000382258.4:c.1215C>A	p.Val405=	p.V405=	ENST00000382258	NM_018647.3	405	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9302.1	1215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCATCCA	NONE	.	.	hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF1	.	.	ENSP00000371693	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000382258	Transcript	.	.	ENSG00000127863	11915	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR19_HUMAN	TNFRSF19	HGNC	.	.	UPI00001372A7	SNV	TNFRSF19,synonymous_variant,p.%3D,ENST00000382258,;TNFRSF19,synonymous_variant,p.%3D,ENST00000382263,;TNFRSF19,synonymous_variant,p.%3D,ENST00000403372,;TNFRSF19,synonymous_variant,p.%3D,ENST00000248484,;	1419	42	100	SUCCESS
KL	9365	.	GRCh37	13	33638123	33638123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	48	302	0	ENST00000380099.3:c.2839A>G	p.Ile947Val	p.I947V	ENST00000380099	NM_004795.3	947	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9347.1	2839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAATTATT	NONE	.	.	hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445	.	.	ENSP00000369442	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000380099	Transcript	.	.	ENSG00000133116	6344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.144)	.	tolerated(0.1)	.	KLOT_HUMAN	KL	HGNC	G3XKV3_HUMAN	.	UPI000013CEBA	SNV	KL,missense_variant,p.Ile947Val,ENST00000380099,;KL,downstream_gene_variant,,ENST00000426690,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;	2847	302	212	SUCCESS
MAB21L1	4081	.	GRCh37	13	36050192	36050192	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	32	75	0	ENST00000379919.4:c.84C>A	p.Ala28=	p.A28=	ENST00000379919	NM_005584.4	28	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9353.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGGCAAT	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,synonymous_variant,p.%3D,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	641	75	51	SUCCESS
MAB21L1	4081	.	GRCh37	13	36050193	36050193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	32	75	0	ENST00000379919.4:c.83C>A	p.Ala28Asp	p.A28D	ENST00000379919	NM_005584.4	28	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS9353.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGCAATG	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.37)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Ala28Asp,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	640	75	51	SUCCESS
RCOR1	23186	.	GRCh37	14	103174914	103174914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	66	1	ENST00000570597.1:c.764A>G	p.Glu255Gly	p.E255G	ENST00000570597		255	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9974.2	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11	.	.	ENSP00000262241	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000262241	Transcript	.	.	ENSG00000089902	17441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	tolerated(0.36)	.	.	RCOR1	HGNC	J3KN32_HUMAN	.	UPI0000D6A053	SNV	RCOR1,missense_variant,p.Glu258Gly,ENST00000262241,;RCOR1,missense_variant,p.Glu255Gly,ENST00000570597,;RCOR1,upstream_gene_variant,,ENST00000558495,;	999	67	85	SUCCESS
OR4M1	441670	.	GRCh37	14	20249422	20249422	+	stop_retained_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	399	86	428	0	ENST00000315957.4:c.941G>A	p.Ter314=	p.*314=	ENST00000315957	NM_001005500.1	314	tGa/tAa	0	.	.	.	.	.	A	*	protein_coding	YES	CCDS32021.1	941	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGAAAGA	NONE	.	.	.	.	.	ENSP00000319654	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315957	Transcript	.	.	ENSG00000176299	14735	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR4M1_HUMAN	OR4M1	HGNC	.	.	UPI0000061F0F	SNV	OR4M1,stop_retained_variant,p.%3D,ENST00000315957,;OR4N2,intron_variant,,ENST00000557414,;	1022	428	485	SUCCESS
KLHL33	123103	.	GRCh37	14	20897958	20897958	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	56	0	ENST00000344581.4:c.877C>A	p.Leu293Ile	p.L293I	ENST00000344581	NM_001109997.2	293	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS53882.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGAGTTG	NONE	.	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000341549	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000344581	Transcript	.	.	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.02)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Leu293Ile,ENST00000344581,;	1100	56	70	SUCCESS
CHD8	57680	.	GRCh37	14	21878045	21878045	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747838726	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	26	280	0	ENST00000399982.2:c.2329C>T	p.Arg777Trp	p.R777W	ENST00000399982	NM_001170629.1	777	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS53885.1	2329	MUTECT|MUSE|VARSCANS	.	AATCCGTTTAA	NONE	.	.	PROSITE_profiles:PS50013,hmmpanther:PTHR10799:SF551,hmmpanther:PTHR10799,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF52540,Superfamily_domains:SSF54160	.	.	ENSP00000382863	.	10/37	.	.	.	.	.	.	.	.	rs747838726	10/37	PASS	ENST00000399982	Transcript	.	.	ENSG00000100888	20153	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	CHD8_HUMAN	CHD8	HGNC	.	.	UPI00002375B9	SNV	CHD8,missense_variant,p.Arg3Trp,ENST00000555935,;CHD8,missense_variant,p.Arg777Trp,ENST00000557364,;CHD8,missense_variant,p.Arg498Trp,ENST00000430710,;CHD8,missense_variant,p.Arg777Trp,ENST00000399982,;CHD8,intron_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000554384,;	2394	280	268	SUCCESS
MYH7	4625	.	GRCh37	14	23902387	23902387	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	103	212	1	ENST00000355349.3:c.251T>C	p.Phe84Ser	p.F84S	ENST00000355349	NM_000257.2	84	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS9601.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGAACTTG	NONE	.	.	hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	4/40	.	.	.	.	.	.	.	.	.	4/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.01)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Phe84Ser,ENST00000355349,;	414	213	268	SUCCESS
TGM1	7051	.	GRCh37	14	24727745	24727745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	102	239	0	ENST00000206765.6:c.1294G>T	p.Val432Phe	p.V432F	ENST00000206765	NM_000359.2	432	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS9622.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACAGAAT	NONE	.	.	Superfamily_domains:SSF54001,SMART_domains:SM00460,PIRSF_domain:PIRSF000459,Pfam_domain:PF01841,Gene3D:1ex0A02,hmmpanther:PTHR11590:SF13,hmmpanther:PTHR11590	.	.	ENSP00000206765	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000206765	Transcript	.	.	ENSG00000092295	11777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TGM1_HUMAN	TGM1	HGNC	H0YNM4_HUMAN,H0YN27_HUMAN,H0YMQ8_HUMAN,H0YLT9_HUMAN,H0YLJ6_HUMAN,H0YKI6_HUMAN,B4DWR7_HUMAN	.	UPI000000164D	SNV	TGM1,missense_variant,p.Val432Phe,ENST00000206765,;TGM1,missense_variant,p.Val123Phe,ENST00000559136,;TGM1,intron_variant,,ENST00000544573,;TGM1,downstream_gene_variant,,ENST00000558074,;TGM1,downstream_gene_variant,,ENST00000560226,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,upstream_gene_variant,,ENST00000559669,;TGM1,downstream_gene_variant,,ENST00000560478,;TGM1,downstream_gene_variant,,ENST00000561067,;	1418	239	309	SUCCESS
TGM1	7051	.	GRCh37	14	24730963	24730963	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1267506182	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	79	155	0	ENST00000206765.6:c.446T>C	p.Met149Thr	p.M149T	ENST00000206765	NM_000359.2	149	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS9622.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCATATGG	NONE	.	.	Superfamily_domains:SSF81296,PIRSF_domain:PIRSF000459,Pfam_domain:PF00868,Gene3D:2.60.40.10,hmmpanther:PTHR11590:SF13,hmmpanther:PTHR11590	.	.	ENSP00000206765	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000206765	Transcript	.	.	ENSG00000092295	11777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	deleterious(0)	.	TGM1_HUMAN	TGM1	HGNC	H0YNM4_HUMAN,H0YN27_HUMAN,H0YMQ8_HUMAN,H0YLT9_HUMAN,H0YLJ6_HUMAN,H0YKI6_HUMAN,B4DWR7_HUMAN	.	UPI000000164D	SNV	TGM1,missense_variant,p.Met149Thr,ENST00000206765,;TGM1,intron_variant,,ENST00000544573,;RABGGTA,downstream_gene_variant,,ENST00000216840,;TGM1,downstream_gene_variant,,ENST00000560226,;RABGGTA,downstream_gene_variant,,ENST00000560777,;TGM1,upstream_gene_variant,,ENST00000559136,;TGM1,downstream_gene_variant,,ENST00000558074,;RABGGTA,downstream_gene_variant,,ENST00000560521,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,downstream_gene_variant,,ENST00000560478,;TGM1,downstream_gene_variant,,ENST00000561067,;RABGGTA,downstream_gene_variant,,ENST00000399409,;RABGGTA,downstream_gene_variant,,ENST00000559974,;RABGGTA,downstream_gene_variant,,ENST00000558649,;RABGGTA,downstream_gene_variant,,ENST00000560243,;RABGGTA,downstream_gene_variant,,ENST00000558376,;RABGGTA,downstream_gene_variant,,ENST00000560998,;RABGGTA,downstream_gene_variant,,ENST00000559551,;RABGGTA,downstream_gene_variant,,ENST00000561055,;	570	156	236	SUCCESS
ITPK1	3705	.	GRCh37	14	93483123	93483123	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	38	0	ENST00000267615.6:c.144G>A	p.Glu48=	p.E48=	ENST00000267615		48	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS9907.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCTCGAT	NONE	.	.	hmmpanther:PTHR14217:SF1,hmmpanther:PTHR14217,Pfam_domain:PF05770	.	.	ENSP00000267615	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000267615	Transcript	.	.	ENSG00000100605	6177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITPK1_HUMAN	ITPK1	HGNC	G3V588_HUMAN,G3V4M9_HUMAN	.	UPI000006F88A	SNV	ITPK1,synonymous_variant,p.%3D,ENST00000555553,;ITPK1,synonymous_variant,p.%3D,ENST00000267615,;ITPK1,synonymous_variant,p.%3D,ENST00000557309,;ITPK1,synonymous_variant,p.%3D,ENST00000556603,;ITPK1,synonymous_variant,p.%3D,ENST00000556185,;ITPK1,synonymous_variant,p.%3D,ENST00000553452,;ITPK1,synonymous_variant,p.%3D,ENST00000354313,;ITPK1,5_prime_UTR_variant,,ENST00000555495,;ITPK1,intron_variant,,ENST00000554999,;ITPK1,non_coding_transcript_exon_variant,,ENST00000556954,;ITPK1,non_coding_transcript_exon_variant,,ENST00000553655,;	318	38	62	SUCCESS
UNC79	57578	.	GRCh37	14	94088075	94088075	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	61	137	0	ENST00000393151.2:c.4496A>G	p.Gln1499Arg	p.Q1499R	ENST00000393151		1499	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS9911.2	3965	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAAAAAT	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	30/50	.	.	.	.	.	.	.	.	.	30/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious_low_confidence(0)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Gln1499Arg,ENST00000393151,;UNC79,missense_variant,p.Gln1322Arg,ENST00000256339,;UNC79,missense_variant,p.Gln1521Arg,ENST00000553484,;UNC79,missense_variant,p.Gln1499Arg,ENST00000555664,;	4620	137	170	SUCCESS
OR4F15	390649	.	GRCh37	15	102359072	102359072	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	684	240	542	0	ENST00000332238.4:c.683A>T	p.His228Leu	p.H228L	ENST00000332238	NM_001001674.1	228	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS32342.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACATTCTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF129,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000333184	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332238	Transcript	.	.	ENSG00000182854	15078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious_low_confidence(0.01)	.	O4F15_HUMAN	OR4F15	HGNC	.	.	UPI0000041CE7	SNV	OR4F15,missense_variant,p.His228Leu,ENST00000332238,;	707	542	924	SUCCESS
HERC2	8924	.	GRCh37	15	28358214	28358214	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	18	0	ENST00000261609.7:c.14232+3A>G		p.X4744_splice	ENST00000261609	NM_004667.5	4744		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10021.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTACCTG	NONE	.	.	.	.	.	ENSP00000261609	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	LOW	92/92	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,splice_region_variant,,ENST00000261609,;HERC2,splice_region_variant,,ENST00000562136,;HERC2,splice_region_variant,,ENST00000566635,;HERC2,downstream_gene_variant,,ENST00000568206,;	.	18	15	SUCCESS
MYO5A	4644	.	GRCh37	15	52638630	52638630	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	94	223	0	ENST00000399231.3:c.3887del	p.Leu1296TrpfsTer7	p.L1296Wfs*7	ENST00000399231	NM_000259.3	1296	tTg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS42037.1	3887	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTTCCAAAAGT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273	.	.	ENSP00000382177	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000399231	Transcript	1	.	ENSG00000197535	7602	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO5A_HUMAN	MYO5A	HGNC	Q9UES4_HUMAN	.	UPI0000E445E1	deletion	MYO5A,frameshift_variant,p.Leu1296TrpfsTer7,ENST00000358212,;MYO5A,frameshift_variant,p.Leu1293TrpfsTer7,ENST00000399233,;MYO5A,frameshift_variant,p.Leu86TrpfsTer7,ENST00000399228,;MYO5A,frameshift_variant,p.Leu1296TrpfsTer7,ENST00000553916,;MYO5A,frameshift_variant,p.Leu1296TrpfsTer7,ENST00000399231,;MYO5A,frameshift_variant,p.Leu53TrpfsTer7,ENST00000399229,;MYO5A,frameshift_variant,p.Leu89TrpfsTer7,ENST00000568914,;MYO5A,frameshift_variant,p.Leu1296TrpfsTer7,ENST00000356338,;	4131	223	338	SUCCESS
PDXDC1	23042	.	GRCh37	16	15126797	15126797	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	113	0	ENST00000396410.4:c.1651A>T	p.Lys551Ter	p.K551*	ENST00000396410	NM_015027.2	551	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS32393.1	1651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAAGTTA	NONE	.	.	.	.	.	ENSP00000379691	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000396410	Transcript	.	.	ENSG00000179889	28995	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDXD1_HUMAN	PDXDC1	HGNC	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN	.	UPI000004A864	SNV	PDXDC1,stop_gained,p.Lys524Ter,ENST00000569715,;PDXDC1,stop_gained,p.Lys536Ter,ENST00000325823,;PDXDC1,stop_gained,p.Lys551Ter,ENST00000396410,;PDXDC1,stop_gained,p.Lys523Ter,ENST00000450288,;PDXDC1,stop_gained,p.Lys460Ter,ENST00000447912,;PDXDC1,stop_gained,p.Lys569Ter,ENST00000563679,;PDXDC1,intron_variant,,ENST00000535621,;NTAN1,downstream_gene_variant,,ENST00000287706,;PDXDC1,downstream_gene_variant,,ENST00000455313,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,intron_variant,,ENST00000562119,;NTAN1,downstream_gene_variant,,ENST00000566542,;PDXDC1,downstream_gene_variant,,ENST00000566633,;NTAN1,downstream_gene_variant,,ENST00000565187,;PDXDC1,upstream_gene_variant,,ENST00000565986,;	1748	113	128	SUCCESS
ATP2A1	487	.	GRCh37	16	28890418	28890418	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs201535825	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	80	170	0	ENST00000357084.3:c.119-2A>G		p.X40_splice	ENST00000357084	NM_173201.3	40		0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS10643.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTAGAGCT	NONE	byCluster|by1000G	.	.	G:0.001	.	ENSP00000349595	G:0	.	.	.	.	.	.	.	.	.	rs201535825	.	PASS	ENST00000357084	Transcript	.	G:0.0002	ENSG00000196296	811	.	.	HIGH	1/21	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	AT2A1_HUMAN	ATP2A1	HGNC	H3BUU3_HUMAN	.	UPI000003B461	SNV	ATP2A1,splice_acceptor_variant,,ENST00000395503,;ATP2A1,splice_acceptor_variant,,ENST00000357084,;ATP2A1,synonymous_variant,p.%3D,ENST00000563975,;SH2B1,downstream_gene_variant,,ENST00000322610,;SH2B1,downstream_gene_variant,,ENST00000359285,;ATP2A1,upstream_gene_variant,,ENST00000536376,;SH2B1,downstream_gene_variant,,ENST00000337120,;ATP2A1,upstream_gene_variant,,ENST00000562185,;SNORA43,downstream_gene_variant,,ENST00000516652,;RP11-22P6.3,non_coding_transcript_exon_variant,,ENST00000561547,;RP11-22P6.3,non_coding_transcript_exon_variant,,ENST00000566956,;	.	170	211	SUCCESS
CD19	930	.	GRCh37	16	28946809	28946809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	302	179	323	1	ENST00000324662.3:c.880G>A	p.Ala294Thr	p.A294T	ENST00000324662		294	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS53998.1	880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGCTGTG	NONE	.	.	hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1	.	.	ENSP00000437940	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000538922	Transcript	.	.	ENSG00000177455	1633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.08)	.	CD19_HUMAN	CD19	HGNC	Q71UW0_HUMAN	.	UPI0000E02929	SNV	CD19,missense_variant,p.Ala294Thr,ENST00000538922,;CD19,missense_variant,p.Ala294Thr,ENST00000324662,;CD19,missense_variant,p.Ala294Thr,ENST00000567541,;RABEP2,intron_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,downstream_gene_variant,,ENST00000566890,;CD19,upstream_gene_variant,,ENST00000567368,;	942	324	482	SUCCESS
LAT	27040	.	GRCh37	16	29001267	29001267	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	50	87	0	ENST00000360872.5:c.723C>A	p.Ser241=	p.S241=	ENST00000360872		241	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53999.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCCAGGA	NONE	.	.	hmmpanther:PTHR15586,Pfam_domain:PF15234	.	.	ENSP00000378845	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000395461	Transcript	.	.	ENSG00000213658	18874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LAT	HGNC	B7WPI0_HUMAN	.	UPI00005A7621	SNV	LAT,synonymous_variant,p.%3D,ENST00000395461,;LAT,synonymous_variant,p.%3D,ENST00000354453,;LAT,synonymous_variant,p.%3D,ENST00000564277,;LAT,synonymous_variant,p.%3D,ENST00000395456,;LAT,synonymous_variant,p.%3D,ENST00000360872,;LAT,synonymous_variant,p.%3D,ENST00000454369,;LAT,synonymous_variant,p.%3D,ENST00000566177,;LAT,intron_variant,,ENST00000570232,;RP11-264B17.5,intron_variant,,ENST00000561471,;LAT,downstream_gene_variant,,ENST00000563964,;LAT,3_prime_UTR_variant,,ENST00000562701,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;LAT,non_coding_transcript_exon_variant,,ENST00000564447,;LAT,non_coding_transcript_exon_variant,,ENST00000566415,;LAT,non_coding_transcript_exon_variant,,ENST00000568899,;LAT,downstream_gene_variant,,ENST00000562472,;LAT,downstream_gene_variant,,ENST00000566270,;LAT,downstream_gene_variant,,ENST00000568440,;	780	87	148	SUCCESS
MYLK3	91807	.	GRCh37	16	46766546	46766546	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	11	11	0	ENST00000394809.4:c.1036G>A	p.Gly346Arg	p.G346R	ENST00000394809	NM_182493.2	346	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10723.2	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCAGGAG	NONE	.	.	hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347	.	.	ENSP00000378288	.	4/13	.	.	.	.	.	.	.	.	COSM3969566,COSM3969567	4/13	PASS	ENST00000394809	Transcript	.	.	ENSG00000140795	29826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.02)	.	tolerated(0.3)	1,1	MYLK3_HUMAN	MYLK3	HGNC	.	.	UPI000059D380	SNV	MYLK3,missense_variant,p.Gly5Arg,ENST00000536476,;MYLK3,missense_variant,p.Gly346Arg,ENST00000394809,;MYLK3,non_coding_transcript_exon_variant,,ENST00000564731,;MYLK3,upstream_gene_variant,,ENST00000569844,;	1152	11	14	SUCCESS
TMEM170A	124491	.	GRCh37	16	75485578	75485578	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	35	77	0	ENST00000561878.1:c.293G>A	p.Gly98Glu	p.G98E	ENST00000561878	NM_145254.1	98	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS10917.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCCAGCA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF10190,hmmpanther:PTHR22779:SF2,hmmpanther:PTHR22779	.	.	ENSP00000454404	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000561878	Transcript	.	.	ENSG00000166822	29577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	T170A_HUMAN	TMEM170A	HGNC	H3BS26_HUMAN	.	UPI0000070754	SNV	TMEM170A,missense_variant,p.Gly98Glu,ENST00000569276,;TMEM170A,missense_variant,p.Gly60Glu,ENST00000569540,;TMEM170A,missense_variant,p.Gly98Glu,ENST00000561878,;TMEM170A,missense_variant,p.Gly53Glu,ENST00000567796,;RP11-77K12.1,intron_variant,,ENST00000566594,;TMEM170A,intron_variant,,ENST00000357613,;TMEM170A,intron_variant,,ENST00000566980,;RP11-77K12.1,intron_variant,,ENST00000567194,;RP11-77K12.1,intron_variant,,ENST00000561887,;TMEM170A,intron_variant,,ENST00000568559,;	391	77	62	SUCCESS
KCNJ12	3768	.	GRCh37	17	21319449	21319449	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	30	119	0	ENST00000331718.5:c.795G>C	p.Val265=	p.V265=	ENST00000331718	NM_001194958.2	265	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS11219.1	795	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGTCGCC	BUFFER|p.I262S|c.785T>G|5	.	.	Prints_domain:PR01320,Superfamily_domains:SSF81296,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,synonymous_variant,p.%3D,ENST00000331718,;KCNJ12,synonymous_variant,p.%3D,ENST00000583088,;	1690	119	162	SUCCESS
CRLF3	51379	.	GRCh37	17	29119458	29119458	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	40	96	0	ENST00000324238.6:c.959G>A	p.Arg320Lys	p.R320K	ENST00000324238	NM_015986.3	320	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS32607.1	959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCCTGAAT	NONE	.	.	hmmpanther:PTHR15828	.	.	ENSP00000318804	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000324238	Transcript	.	.	ENSG00000176390	17177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.47)	.	CRLF3_HUMAN	CRLF3	HGNC	B4DJU5_HUMAN	.	UPI0000231BEA	SNV	CRLF3,missense_variant,p.Arg320Lys,ENST00000324238,;CRLF3,missense_variant,p.Arg204Lys,ENST00000544695,;CTD-2349P21.9,non_coding_transcript_exon_variant,,ENST00000580085,;CRLF3,intron_variant,,ENST00000577725,;SUZ12P,downstream_gene_variant,,ENST00000582329,;SUZ12P,downstream_gene_variant,,ENST00000583950,;CRLF3,splice_region_variant,,ENST00000578692,;	1084	96	118	SUCCESS
SLFN11	91607	.	GRCh37	17	33690385	33690385	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	39	122	1	ENST00000308377.4:c.442G>T	p.Ala148Ser	p.A148S	ENST00000308377	NM_152270.3	148	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11294.1	442	RADIA|SOMATICSNIPER|VARSCANS	.	GAATGCCTCTC	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155	.	.	ENSP00000378067	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,missense_variant,p.Ala148Ser,ENST00000394566,;SLFN11,missense_variant,p.Ala148Ser,ENST00000308377,;SLFN11,downstream_gene_variant,,ENST00000591682,;SLFN11,downstream_gene_variant,,ENST00000430814,;SLFN11,downstream_gene_variant,,ENST00000589811,;SLFN11,downstream_gene_variant,,ENST00000427966,;SLFN11,downstream_gene_variant,,ENST00000592122,;SLFN11,downstream_gene_variant,,ENST00000588579,;SLFN11,downstream_gene_variant,,ENST00000441608,;SLFN11,downstream_gene_variant,,ENST00000498396,;SLFN11,downstream_gene_variant,,ENST00000589562,;SLFN11,upstream_gene_variant,,ENST00000586099,;	715	123	130	SUCCESS
KRT28	162605	.	GRCh37	17	38955214	38955214	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	513	192	555	0	ENST00000306658.7:c.488T>C	p.Leu163Pro	p.L163P	ENST00000306658	NM_181535.3	163	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11376.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGAATG	NONE	.	.	hmmpanther:PTHR23239:SF145,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000305263	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000306658	Transcript	.	.	ENSG00000173908	30842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	K1C28_HUMAN	KRT28	HGNC	.	.	UPI0000246D70	SNV	KRT28,missense_variant,p.Leu163Pro,ENST00000306658,;RP11-605F20.1,upstream_gene_variant,,ENST00000582101,;	554	555	706	SUCCESS
FAM134C	0	.	GRCh37	17	40733882	40733889	+	frameshift_variant	Frame_Shift_Del	DEL	CAGAAGTT	CAGAAGTT	-	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	CAGAAGTT	CAGAAGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	25	0	ENST00000309428.5:c.1343_1350del	p.Glu448GlyfsTer14	p.E448Gfs*14	ENST00000309428	NM_178126.3	448	gAACTTCTG/g	0	.	.	.	.	.	-	ELL/X	protein_coding	YES	CCDS11432.1	1343-1350	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGTCCAGAAGTTCAAAG	NONE	.	.	.	.	.	ENSP00000309432	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000309428	Transcript	.	.	ENSG00000141699	27258	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F134C_HUMAN	FAM134C	HGNC	K7EQI9_HUMAN,K7ENZ6_HUMAN,K7EJ42_HUMAN,B3KR75_HUMAN	.	UPI0000171C73	deletion	FAM134C,frameshift_variant,p.Glu351GlyfsTer14,ENST00000585894,;FAM134C,frameshift_variant,p.Glu253GlyfsTer14,ENST00000543197,;FAM134C,frameshift_variant,p.Glu448GlyfsTer14,ENST00000309428,;PSMC3IP,upstream_gene_variant,,ENST00000253789,;PSMC3IP,upstream_gene_variant,,ENST00000590760,;PSMC3IP,upstream_gene_variant,,ENST00000587209,;FAM134C,downstream_gene_variant,,ENST00000591547,;FAM134C,downstream_gene_variant,,ENST00000588423,;PSMC3IP,upstream_gene_variant,,ENST00000393795,;FAM134C,3_prime_UTR_variant,,ENST00000586870,;FAM134C,3_prime_UTR_variant,,ENST00000589797,;PSMC3IP,upstream_gene_variant,,ENST00000587268,;PSMC3IP,upstream_gene_variant,,ENST00000588544,;FAM134C,downstream_gene_variant,,ENST00000593251,;PSMC3IP,upstream_gene_variant,,ENST00000589505,;FAM134C,downstream_gene_variant,,ENST00000585726,;FAM134C,downstream_gene_variant,,ENST00000589007,;FAM134C,downstream_gene_variant,,ENST00000590035,;PSMC3IP,upstream_gene_variant,,ENST00000590931,;PSMC3IP,upstream_gene_variant,,ENST00000586337,;	1403-1410	25	68	SUCCESS
MPP2	4355	.	GRCh37	17	41958848	41958848	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	51	0	ENST00000461854.1:c.863A>C	p.Gln288Pro	p.Q288P	ENST00000461854	NM_001278372.1	288	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS11471.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGGTTT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF38,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000269095	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000269095	Transcript	.	.	ENSG00000108852	7220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	MPP2_HUMAN	MPP2	HGNC	E7EX01_HUMAN,E7EV91_HUMAN,E5RK50_HUMAN,E5RJK0_HUMAN,E5RIU3_HUMAN,E5RIM9_HUMAN,E5RI32_HUMAN,E5RFN8_HUMAN	.	UPI000013D7F7	SNV	MPP2,missense_variant,p.Gln309Pro,ENST00000518766,;MPP2,missense_variant,p.Gln264Pro,ENST00000269095,;MPP2,missense_variant,p.Gln253Pro,ENST00000536246,;MPP2,missense_variant,p.Gln125Pro,ENST00000520305,;MPP2,missense_variant,p.Gln288Pro,ENST00000461854,;MPP2,missense_variant,p.Gln281Pro,ENST00000377184,;MPP2,missense_variant,p.Gln253Pro,ENST00000523501,;MPP2,downstream_gene_variant,,ENST00000520406,;MPP2,downstream_gene_variant,,ENST00000521178,;MPP2,downstream_gene_variant,,ENST00000523762,;MPP2,downstream_gene_variant,,ENST00000522172,;MPP2,downstream_gene_variant,,ENST00000523934,;MPP2,downstream_gene_variant,,ENST00000520241,;MPP2,downstream_gene_variant,,ENST00000523220,;MPP2,downstream_gene_variant,,ENST00000473246,;MPP2,downstream_gene_variant,,ENST00000524294,;MPP2,downstream_gene_variant,,ENST00000520319,;	1096	51	99	SUCCESS
LPO	4025	.	GRCh37	17	56342176	56342176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	176	130	1	ENST00000262290.4:c.1360C>T	p.Pro454Ser	p.P454S	ENST00000262290	NM_006151.2	454	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32689.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCCCAGA	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF53,hmmpanther:PTHR11475,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000262290	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000262290	Transcript	.	.	ENSG00000167419	6678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	PERL_HUMAN	LPO	HGNC	J3QSD8_HUMAN,F5H386_HUMAN	.	UPI0000131631	SNV	LPO,missense_variant,p.Pro371Ser,ENST00000421678,;LPO,missense_variant,p.Pro454Ser,ENST00000262290,;LPO,missense_variant,p.Pro395Ser,ENST00000543544,;LPO,missense_variant,p.Pro371Ser,ENST00000582328,;LPO,3_prime_UTR_variant,,ENST00000580890,;LPO,3_prime_UTR_variant,,ENST00000389576,;	1676	131	338	SUCCESS
SMG8	55181	.	GRCh37	17	57288227	57288227	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs548055635	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	66	57	1	ENST00000300917.5:c.815A>G	p.Asn272Ser	p.N272S	ENST00000300917	NM_018149.6	272	aAt/aGt	0	.	G:0	.	G:0	.	G	N/S	protein_coding	YES	CCDS11615.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAATGGAG	NONE	by1000G	.	hmmpanther:PTHR13091,hmmpanther:PTHR13091:SF0,Pfam_domain:PF10220	G:0	.	ENSP00000438748	G:0	2/5	.	.	.	.	.	.	.	.	rs548055635	2/5	PASS	ENST00000543872	Transcript	.	G:0.0002	ENSG00000167447	25551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	G:0.001	tolerated(0.41)	.	SMG8_HUMAN	SMG8	HGNC	.	.	UPI000006CCB5	SNV	SMG8,missense_variant,p.Asn272Ser,ENST00000543872,;SMG8,missense_variant,p.Asn272Ser,ENST00000578922,;SMG8,missense_variant,p.Asn272Ser,ENST00000300917,;CTD-2510F5.6,intron_variant,,ENST00000577660,;SMG8,upstream_gene_variant,,ENST00000582469,;SMG8,intron_variant,,ENST00000580498,;SMG8,upstream_gene_variant,,ENST00000580798,;	1079	58	115	SUCCESS
CLTC	1213	.	GRCh37	17	57759022	57759022	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	84	135	0	ENST00000269122.3:c.3264T>C	p.His1088=	p.H1088=	ENST00000269122	NM_004859.3	1088	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS32696.1	3264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATATTGG	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,synonymous_variant,p.%3D,ENST00000269122,;CLTC,synonymous_variant,p.%3D,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,upstream_gene_variant,,ENST00000475458,;CLTC,upstream_gene_variant,,ENST00000472651,;PTRH2,intron_variant,,ENST00000587935,;CLTC,downstream_gene_variant,,ENST00000579815,;CLTC,upstream_gene_variant,,ENST00000496076,;	3538	135	164	SUCCESS
DVL2	1856	.	GRCh37	17	7129551	7129551	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1205088679	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	19	0	ENST00000005340.5:c.1844A>C	p.Lys615Thr	p.K615T	ENST00000005340	NM_004422.2	615	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS11091.1	1844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACTTGGAC	NONE	.	.	Pfam_domain:PF12316,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,Low_complexity_(Seg):seg	.	.	ENSP00000005340	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000005340	Transcript	.	.	ENSG00000004975	3086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	tolerated(0.52)	.	DVL2_HUMAN	DVL2	HGNC	B4E2D6_HUMAN	.	UPI0000000DE9	SNV	DVL2,missense_variant,p.Lys609Thr,ENST00000575458,;DVL2,missense_variant,p.Lys269Thr,ENST00000575086,;DVL2,missense_variant,p.Lys615Thr,ENST00000005340,;ACADVL,downstream_gene_variant,,ENST00000542255,;ACADVL,downstream_gene_variant,,ENST00000579546,;DVL2,downstream_gene_variant,,ENST00000575756,;ACADVL,downstream_gene_variant,,ENST00000356839,;ACADVL,downstream_gene_variant,,ENST00000543245,;ACADVL,downstream_gene_variant,,ENST00000350303,;DVL2,downstream_gene_variant,,ENST00000574143,;ACADVL,downstream_gene_variant,,ENST00000583312,;ACADVL,downstream_gene_variant,,ENST00000579886,;MIR324,upstream_gene_variant,,ENST00000362183,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;ACADVL,downstream_gene_variant,,ENST00000577857,;ACADVL,downstream_gene_variant,,ENST00000581562,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000322910,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582379,;DVL2,downstream_gene_variant,,ENST00000576949,;ACADVL,downstream_gene_variant,,ENST00000579286,;DVL2,downstream_gene_variant,,ENST00000576840,;ACADVL,downstream_gene_variant,,ENST00000577191,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,downstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000585203,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000576439,;DVL2,downstream_gene_variant,,ENST00000571745,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000578809,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000582450,;DVL2,downstream_gene_variant,,ENST00000576285,;ACADVL,downstream_gene_variant,,ENST00000583760,;ACADVL,downstream_gene_variant,,ENST00000577433,;ACADVL,downstream_gene_variant,,ENST00000582166,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000583858,;ACADVL,downstream_gene_variant,,ENST00000580365,;ACADVL,downstream_gene_variant,,ENST00000583850,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000578579,;ACADVL,downstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000581378,;	2127	19	20	SUCCESS
KIF19	124602	.	GRCh37	17	72343926	72343926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	21	0	ENST00000389916.4:c.935G>A	p.Gly312Glu	p.G312E	ENST00000389916	NM_153209.3	312	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS32718.2	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGAGGAA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000374566	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Gly312Glu,ENST00000389916,;KIF19,missense_variant,p.Gly270Glu,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1073	21	45	SUCCESS
ST6GALNAC1	55808	.	GRCh37	17	74625419	74625419	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771043163	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	428	186	294	1	ENST00000156626.7:c.506G>A	p.Gly169Asp	p.G169D	ENST00000156626	NM_018414.3	169	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11748.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCCCCCA	NONE	.	.	hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713	.	.	ENSP00000156626	.	2/9	.	.	.	.	.	.	.	.	rs771043163	2/9	PASS	ENST00000156626	Transcript	.	.	ENSG00000070526	23614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	SIA7A_HUMAN	ST6GALNAC1	HGNC	.	.	UPI0000001C00	SNV	ST6GALNAC1,missense_variant,p.Gly169Asp,ENST00000156626,;ST6GALNAC1,upstream_gene_variant,,ENST00000590784,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000590878,;ST6GALNAC1,upstream_gene_variant,,ENST00000589004,;ST6GALNAC1,downstream_gene_variant,,ENST00000590915,;ST6GALNAC1,missense_variant,p.Gly169Asp,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,downstream_gene_variant,,ENST00000589813,;ST6GALNAC1,upstream_gene_variant,,ENST00000585633,;ST6GALNAC1,upstream_gene_variant,,ENST00000588375,;	706	295	614	SUCCESS
TP53	7157	.	GRCh37	17	7577107	7577107	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs1057523347	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	43	78	0	ENST00000269305.4:c.831T>A	p.Cys277Ter	p.C277*	ENST00000269305	NM_001126112.2	277	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS11118.1	831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGACAGGC	SITE|p.C277*|c.831T>A|6,CODON|p.0?|c.1_1182del1182|6,CODON|p.C277C|c.831T>C|4,CODON|p.C277Y|c.830G>A|15,CODON|p.C277F|c.830G>T|22,BUFFER|p.D281V|c.842A>T|5,BUFFER|p.D281G|c.842A>G|10,BUFFER|p.D281H|c.841G>C|6,BUFFER|p.D281H|c.841G>C|28,BUFFER|p.D281H|c.841G>C|3,BUFFER|p.D281H|c.841G>C|4,BUFFER|p.D281Y|c.841G>T|7,BUFFER|p.D281N|c.841G>A|7,BUFFER|p.D281N|c.841G>A|3,BUFFER|p.D281Y|c.841G>T|13,BUFFER|p.D281Y|c.841G>T|4,BUFFER|p.D281N|c.841G>A|27,BUFFER|p.R280R|c.840A>G|3,BUFFER|p.R280S|c.840A>T|11,BUFFER|p.R280S|c.840A>C|6,BUFFER|p.R280T|c.839G>C|63,BUFFER|p.R280T|c.839G>C|4,BUFFER|p.R280I|c.839G>T|17,BUFFER|p.R280K|c.839G>A|17,BUFFER|p.R280K|c.839G>A|6,BUFFER|p.R280I|c.839G>T|4,BUFFER|p.R280K|c.839G>A|57,BUFFER|p.R280I|c.839G>T|3,BUFFER|p.R280T|c.839G>C|10,BUFFER|p.R280K|c.839G>A|11,BUFFER|p.R280*|c.838A>T|12,BUFFER|p.R280G|c.838A>G|6,BUFFER|p.R280G|c.838A>G|3,BUFFER|p.R280G|c.838A>G|23,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279E|c.836G>A|4,BUFFER|p.G279E|c.836G>A|34,BUFFER|p.G279V|c.836G>T|3,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.A276D|c.827C>A|9,BUFFER|p.A276G|c.827C>G|4,BUFFER|p.A276D|c.827C>A|3,BUFFER|p.A276V|c.827C>T|7,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275C|c.825T>C|4,BUFFER|p.C275W|c.825T>G|8,BUFFER|p.C275*|c.825T>A|3,BUFFER|p.C275F|c.824G>T|10,BUFFER|p.C275S|c.824G>C|4,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275F|c.824G>T|43,BUFFER|p.C275F|c.824G>T|5,BUFFER|p.C275Y|c.824G>A|54,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275Y|c.824G>A|11,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM065496,TP53_g.13811T>G,TP53_g.13811T>C,TP53_g.13811T>A,COSM45109,COSM44972,COSM45299,COSM417972	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Cys277Ter,ENST00000420246,;TP53,stop_gained,p.Cys277Ter,ENST00000269305,;TP53,stop_gained,p.Cys145Ter,ENST00000509690,;TP53,stop_gained,p.Cys277Ter,ENST00000359597,;TP53,stop_gained,p.Cys277Ter,ENST00000445888,;TP53,stop_gained,p.Cys277Ter,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1021	78	61	SUCCESS
FASN	2194	.	GRCh37	17	80039104	80039104	+	synonymous_variant	Silent	SNP	G	G	A	rs1160132362	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	66	38	0	ENST00000306749.2:c.6531C>T	p.Arg2177=	p.R2177=	ENST00000306749	NM_004104.4	2177	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11801.1	6531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGCGCAC	NONE	.	.	PROSITE_profiles:PS50075,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00550,Gene3D:1.10.1200.10,SMART_domains:SM00823,Superfamily_domains:SSF47336	.	.	ENSP00000304592	.	38/43	.	.	.	.	.	.	.	.	.	38/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	6750	38	105	SUCCESS
MPPE1	65258	.	GRCh37	18	11889442	11889442	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	45	124	0	ENST00000588072.1:c.438A>T	p.Pro146=	p.P146=	ENST00000588072	NM_023075.5	146	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11853.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTTGGGTG	NONE	.	.	hmmpanther:PTHR13315,hmmpanther:PTHR13315:SF0,Pfam_domain:PF12850,Gene3D:3.60.21.10,Superfamily_domains:SSF56300	.	.	ENSP00000465894	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000588072	Transcript	.	.	ENSG00000154889	15988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPPE1_HUMAN	MPPE1	HGNC	K7ESB8_HUMAN,K7ES91_HUMAN,K7ERI3_HUMAN,K7ER13_HUMAN,K7EQV4_HUMAN,K7EQ74_HUMAN,K7EQ70_HUMAN,K7EJU0_HUMAN	.	UPI000013DDD8	SNV	MPPE1,synonymous_variant,p.%3D,ENST00000588191,;MPPE1,synonymous_variant,p.%3D,ENST00000592331,;MPPE1,synonymous_variant,p.%3D,ENST00000317235,;MPPE1,synonymous_variant,p.%3D,ENST00000399978,;MPPE1,synonymous_variant,p.%3D,ENST00000588072,;MPPE1,synonymous_variant,p.%3D,ENST00000309976,;MPPE1,synonymous_variant,p.%3D,ENST00000588186,;MPPE1,synonymous_variant,p.%3D,ENST00000344987,;MPPE1,synonymous_variant,p.%3D,ENST00000592977,;MPPE1,downstream_gene_variant,,ENST00000589267,;MPPE1,upstream_gene_variant,,ENST00000587724,;GNAL,downstream_gene_variant,,ENST00000334049,;MPPE1,upstream_gene_variant,,ENST00000592755,;MPPE1,downstream_gene_variant,,ENST00000586364,;MPPE1,synonymous_variant,p.%3D,ENST00000496196,;MPPE1,synonymous_variant,p.%3D,ENST00000317251,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592894,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592447,;MPPE1,non_coding_transcript_exon_variant,,ENST00000589731,;MPPE1,upstream_gene_variant,,ENST00000592306,;MPPE1,downstream_gene_variant,,ENST00000592180,;	1660	124	186	SUCCESS
CEP76	79959	.	GRCh37	18	12691398	12691398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	90	137	0	ENST00000262127.2:c.893G>T	p.Arg298Leu	p.R298L	ENST00000262127	NM_024899.3	298	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11861.1	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTCGAATT	NONE	.	.	hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF5	.	.	ENSP00000262127	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000262127	Transcript	.	.	ENSG00000101624	25727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CEP76_HUMAN	CEP76	HGNC	.	.	UPI00000715E7	SNV	CEP76,missense_variant,p.Arg83Leu,ENST00000591034,;CEP76,missense_variant,p.Arg298Leu,ENST00000262127,;CEP76,missense_variant,p.Arg223Leu,ENST00000423709,;CEP76,missense_variant,p.Arg173Leu,ENST00000585751,;PSMG2,intron_variant,,ENST00000585331,;CEP76,intron_variant,,ENST00000587666,;PSMG2,intron_variant,,ENST00000586445,;CEP76,downstream_gene_variant,,ENST00000592660,;PSMG2,downstream_gene_variant,,ENST00000589405,;CEP76,3_prime_UTR_variant,,ENST00000590143,;CEP76,3_prime_UTR_variant,,ENST00000593250,;	1119	137	185	SUCCESS
SYT4	6860	.	GRCh37	18	40854035	40854035	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	216	101	189	0	ENST00000255224.3:c.359A>T	p.Asn120Ile	p.N120I	ENST00000255224	NM_020783.3	120	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS11922.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCATTCTCC	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114	.	.	ENSP00000255224	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.25)	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,missense_variant,p.Asn120Ile,ENST00000255224,;SYT4,missense_variant,p.Asn102Ile,ENST00000590752,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000591820,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,upstream_gene_variant,,ENST00000589479,;	728	189	317	SUCCESS
RALBP1	10928	.	GRCh37	18	9535918	9535918	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	42	60	0	ENST00000019317.4:c.1951A>T	p.Lys651Ter	p.K651*	ENST00000019317		651	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS11845.1	1951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGAAGGAG	NONE	.	.	hmmpanther:PTHR12783	.	.	ENSP00000019317	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000019317	Transcript	.	.	ENSG00000017797	9841	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBP1_HUMAN	RALBP1	HGNC	Q59E87_HUMAN,J3QLT3_HUMAN,E7ENF8_HUMAN	.	UPI00000703A3	SNV	RALBP1,stop_gained,p.Lys651Ter,ENST00000383432,;RALBP1,stop_gained,p.Lys651Ter,ENST00000019317,;	2174	60	127	SUCCESS
ABCA7	10347	.	GRCh37	19	1051263	1051263	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	41	0	ENST00000263094.6:c.2794A>T	p.Lys932Ter	p.K932*	ENST00000263094	NM_019112.3	932	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS12055.1	2794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAAGCAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000263094	.	20/47	.	.	.	.	.	.	.	.	.	20/47	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,stop_gained,p.Lys932Ter,ENST00000263094,;ABCA7,stop_gained,p.Lys794Ter,ENST00000435683,;ABCA7,stop_gained,p.Lys932Ter,ENST00000433129,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000530092,;	3025	41	62	SUCCESS
ABHD8	79575	.	GRCh37	19	17412326	17412326	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	27	0	ENST00000247706.3:c.100A>T	p.Thr34Ser	p.T34S	ENST00000247706	NM_024527.4	34	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS12355.1	100	RADIA|MUTECT|MUSE	.	AAAGGTGTAGC	NONE	.	.	.	.	.	ENSP00000247706	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000247706	Transcript	.	.	ENSG00000127220	23759	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.44)	.	ABHD8_HUMAN	ABHD8	HGNC	B2C6G3_HUMAN	.	UPI0000043630	SNV	ABHD8,missense_variant,p.Thr34Ser,ENST00000247706,;ABHD8,missense_variant,p.Thr55Ser,ENST00000594194,;ABHD8,missense_variant,p.Thr50Ser,ENST00000593489,;MRPL34,intron_variant,,ENST00000600434,;MRPL34,intron_variant,,ENST00000595444,;MRPL34,upstream_gene_variant,,ENST00000252602,;MRPL34,upstream_gene_variant,,ENST00000602206,;MRPL34,upstream_gene_variant,,ENST00000594999,;CTD-2278I10.4,upstream_gene_variant,,ENST00000594077,;MRPL34,downstream_gene_variant,,ENST00000597996,;	340	27	43	SUCCESS
TMEM59L	25789	.	GRCh37	19	18731265	18731265	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	22	0	ENST00000262817.3:c.948G>A	p.Trp316Ter	p.W316*	ENST00000262817	NM_012109.2	316	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS12383.1	948	RADIA|MUTECT|MUSE|VARSCANS	.	GATTGGCCCCT	NONE	.	.	.	.	.	ENSP00000470879	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000600490	Transcript	.	.	ENSG00000105696	13237	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM59L_HUMAN	TMEM59L	HGNC	.	.	UPI0000034024	SNV	TMEM59L,stop_gained,p.Trp316Ter,ENST00000262817,;TMEM59L,stop_gained,p.Trp316Ter,ENST00000600490,;TMEM59L,downstream_gene_variant,,ENST00000594709,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000598660,;TMEM59L,downstream_gene_variant,,ENST00000594859,;	1133	22	32	SUCCESS
ZNF681	148213	.	GRCh37	19	23927768	23927768	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	71	258	1	ENST00000395385.3:c.377T>A	p.Val126Glu	p.V126E	ENST00000395385		126	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS12414.2	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTACTCTA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Superfamily_domains:SSF57667	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	tolerated(1)	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,missense_variant,p.Val126Glu,ENST00000395385,;ZNF681,missense_variant,p.Val126Glu,ENST00000528059,;ZNF681,missense_variant,p.Val126Glu,ENST00000531570,;ZNF681,missense_variant,p.Val195Glu,ENST00000402377,;	726	259	193	SUCCESS
CCNE1	898	.	GRCh37	19	30303569	30303569	+	intron_variant	Intron	SNP	C	C	A	rs768485998	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	13	0	ENST00000262643.3:c.24-27C>A		p.*8*	ENST00000262643	NM_001238.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCCGGCC	NONE	byFrequency	.	.	.	.	ENSP00000262643	.	.	.	.	.	.	.	.	.	.	rs768485998	.	PASS	ENST00000262643	Transcript	.	.	ENSG00000105173	1589	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNE1_HUMAN	CCNE1	HGNC	F6KX26_HUMAN	.	UPI0000001C33	SNV	CCNE1,5_prime_UTR_variant,,ENST00000444983,;CCNE1,intron_variant,,ENST00000262643,;CCNE1,intron_variant,,ENST00000575243,;CCNE1,intron_variant,,ENST00000357943,;CCNE1,upstream_gene_variant,,ENST00000576532,;CCNE1,upstream_gene_variant,,ENST00000586912,;	.	13	16	SUCCESS
ZNF230	7773	.	GRCh37	19	44514563	44514563	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	91	172	0	ENST00000429154.2:c.372C>G	p.Ser124=	p.S124=	ENST00000429154	NM_006300.3	124	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33044.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCCAGGT	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF176	.	.	ENSP00000409318	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429154	Transcript	.	.	ENSG00000159882	13024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN230_HUMAN	ZNF230	HGNC	K7EMK6_HUMAN	.	UPI000016960C	SNV	ZNF230,synonymous_variant,p.%3D,ENST00000429154,;ZNF230,downstream_gene_variant,,ENST00000585491,;ZNF230,downstream_gene_variant,,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;	600	172	127	SUCCESS
PPP1R12C	54776	.	GRCh37	19	55606963	55606963	+	synonymous_variant	Silent	SNP	T	T	C	rs1224863989	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	21	0	ENST00000263433.3:c.1236A>G	p.Glu412=	p.E412=	ENST00000263433	NM_017607.3	412	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS12916.1	1236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTTCAAG	NONE	.	.	PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF19	.	.	ENSP00000263433	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000263433	Transcript	.	.	ENSG00000125503	14947	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP12C_HUMAN	PPP1R12C	HGNC	.	.	UPI000006FEE1	SNV	PPP1R12C,synonymous_variant,p.%3D,ENST00000376393,;PPP1R12C,synonymous_variant,p.%3D,ENST00000592993,;PPP1R12C,synonymous_variant,p.%3D,ENST00000435544,;PPP1R12C,synonymous_variant,p.%3D,ENST00000263433,;PPP1R12C,upstream_gene_variant,,ENST00000591938,;PPP1R12C,downstream_gene_variant,,ENST00000586197,;PPP1R12C,upstream_gene_variant,,ENST00000588277,;PPP1R12C,upstream_gene_variant,,ENST00000592754,;PPP1R12C,upstream_gene_variant,,ENST00000590268,;	1252	21	49	SUCCESS
PTPRH	5794	.	GRCh37	19	55716907	55716907	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs144055741	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	135	204	0	ENST00000376350.3:c.406G>T	p.Ala136Ser	p.A136S	ENST00000376350	NM_002842.3	136	Gcc/Tcc	0	T:0.0002	T:0.0008	.	T:0	.	A	A/S	protein_coding	YES	CCDS33110.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCGATGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0.0109	T:0	ENSP00000365528	T:0	4/20	.	.	.	.	.	.	.	.	rs144055741	4/20	PASS	ENST00000376350	Transcript	.	T:0.0028	ENSG00000080031	9672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0.002	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,missense_variant,p.Ala136Ser,ENST00000376350,;PTPRH,intron_variant,,ENST00000263434,;PTPRH,non_coding_transcript_exon_variant,,ENST00000587662,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586310,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588370,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586852,;	429	205	350	SUCCESS
ZNF264	9422	.	GRCh37	19	57723567	57723567	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs373693955	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	76	149	0	ENST00000263095.6:c.1102G>T	p.Glu368Ter	p.E368*	ENST00000263095	NM_003417.4	368	Gag/Tag	0	A:0	.	.	.	.	T	E/*	protein_coding	YES	CCDS33127.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGAGAAG	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF96,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	A:0.0001	ENSP00000263095	.	4/4	.	.	.	.	.	.	.	.	rs373693955	4/4	PASS	ENST00000263095	Transcript	.	.	ENSG00000083844	13057	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN264_HUMAN	ZNF264	HGNC	M0QXF3_HUMAN	.	UPI000013C33B	SNV	ZNF264,stop_gained,p.Glu368Ter,ENST00000263095,;ZNF264,stop_gained,p.Glu368Ter,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;	1516	149	179	SUCCESS
UBE2M	9040	.	GRCh37	19	59067482	59067482	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	33	0	ENST00000253023.3:c.526A>C	p.Thr176Pro	p.T176P	ENST00000253023	NM_003969.3	176	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS12987.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGTGGAGC	NONE	.	.	Superfamily_domains:SSF54495	.	.	ENSP00000253023	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000253023	Transcript	.	.	ENSG00000130725	12491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	tolerated(0.13)	.	UBC12_HUMAN	UBE2M	HGNC	M0QX69_HUMAN	.	UPI0000020ECC	SNV	UBE2M,missense_variant,p.Thr176Pro,ENST00000253023,;CHMP2A,upstream_gene_variant,,ENST00000601220,;CHMP2A,upstream_gene_variant,,ENST00000312547,;CHMP2A,upstream_gene_variant,,ENST00000600118,;CHMP2A,upstream_gene_variant,,ENST00000596708,;CHMP2A,upstream_gene_variant,,ENST00000597848,;UBE2M,downstream_gene_variant,,ENST00000596985,;UBE2M,downstream_gene_variant,,ENST00000595957,;CHMP2A,upstream_gene_variant,,ENST00000600006,;AC016629.8,upstream_gene_variant,,ENST00000600534,;AC016629.8,upstream_gene_variant,,ENST00000593642,;AC016629.8,upstream_gene_variant,,ENST00000600726,;UBE2M,downstream_gene_variant,,ENST00000599829,;CHMP2A,upstream_gene_variant,,ENST00000600804,;CHMP2A,upstream_gene_variant,,ENST00000597209,;UBE2M,downstream_gene_variant,,ENST00000593801,;	1105	33	43	SUCCESS
KHSRP	8570	.	GRCh37	19	6416830	6416830	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764189159	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	28	0	ENST00000398148.3:c.1246G>A	p.Gly416Ser	p.G416S	ENST00000398148	NM_003685.2	416	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS45936.1	1246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF101	.	.	ENSP00000381216	.	13/20	.	.	.	.	.	.	.	.	rs764189159	13/20	PASS	ENST00000398148	Transcript	.	.	ENSG00000088247	6316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.1)	.	FUBP2_HUMAN	KHSRP	HGNC	M0QYH3_HUMAN,M0QXW7_HUMAN	.	UPI000049DE96	SNV	KHSRP,missense_variant,p.Gly416Ser,ENST00000398148,;KHSRP,downstream_gene_variant,,ENST00000599395,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,downstream_gene_variant,,ENST00000595548,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,downstream_gene_variant,,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000597656,;KHSRP,upstream_gene_variant,,ENST00000594745,;KHSRP,upstream_gene_variant,,ENST00000595223,;CTB-180A7.8,downstream_gene_variant,,ENST00000596254,;CTB-180A7.8,downstream_gene_variant,,ENST00000398173,;MIR3940,upstream_gene_variant,,ENST00000579148,;KHSRP,downstream_gene_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;	1339	28	28	SUCCESS
MUC16	94025	.	GRCh37	19	9045799	9045799	+	synonymous_variant	Silent	SNP	G	G	C	rs375775766	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	281	134	289	0	ENST00000397910.4:c.35832C>G	p.Thr11944=	p.T11944=	ENST00000397910	NM_024690.2	11944	acC/acG	0	A:0	.	.	.	.	C	T	protein_coding	YES	CCDS54212.1	35832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAGGTCAT	NONE	byCluster	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	A:0.0001	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	rs375775766	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	36036	289	416	SUCCESS
STXBP3	6814	.	GRCh37	1	109340798	109340798	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778203420	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	336	230	479	1	ENST00000370008.3:c.1388G>T	p.Arg463Leu	p.R463L	ENST00000370008	NM_007269.2	463	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS790.1	1388	RADIA|SOMATICSNIPER|VARSCANS	.	GGATCGGTCTG	NONE	byFrequency	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:1.25.40.60,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33	.	.	ENSP00000359025	.	16/19	.	.	.	.	.	.	.	.	rs778203420	16/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,missense_variant,p.Arg463Leu,ENST00000370008,;STXBP3,non_coding_transcript_exon_variant,,ENST00000472099,;STXBP3,downstream_gene_variant,,ENST00000495245,;	1438	480	566	SUCCESS
STXBP3	6814	.	GRCh37	1	109340799	109340799	+	synonymous_variant	Silent	SNP	G	G	T	rs374868665	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	329	225	475	1	ENST00000370008.3:c.1389G>T	p.Arg463=	p.R463=	ENST00000370008	NM_007269.2	463	cgG/cgT	0	A:0	.	.	.	.	T	R	protein_coding	YES	CCDS790.1	1389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCGGTCTGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:1.25.40.60,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33	.	A:0.0001	ENSP00000359025	.	16/19	.	.	.	.	.	.	.	.	rs374868665	16/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,synonymous_variant,p.%3D,ENST00000370008,;STXBP3,non_coding_transcript_exon_variant,,ENST00000472099,;STXBP3,downstream_gene_variant,,ENST00000495245,;	1439	476	555	SUCCESS
SYT6	148281	.	GRCh37	1	114646254	114646254	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781479585	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	62	0	ENST00000610222.1:c.1161C>A	p.Asn387Lys	p.N387K	ENST00000610222		387	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS871.1	906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGGTTCCG	NONE	byFrequency	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF45,hmmpanther:PTHR10024,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000477344	.	4/8	.	.	.	.	.	.	.	.	rs781479585	4/8	PASS	ENST00000609117	Transcript	.	.	ENSG00000134207	18638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SYT6	HGNC	I6L9C3_HUMAN,B1AMB7_HUMAN,B1AMB6_HUMAN	.	UPI000000DACA	SNV	SYT6,missense_variant,p.Asn387Lys,ENST00000393296,;SYT6,missense_variant,p.Asn302Lys,ENST00000609117,;SYT6,missense_variant,p.Asn302Lys,ENST00000607941,;SYT6,missense_variant,p.Asn302Lys,ENST00000369547,;SYT6,missense_variant,p.Asn387Lys,ENST00000610222,;SYT6,3_prime_UTR_variant,,ENST00000610096,;SYT6,3_prime_UTR_variant,,ENST00000610121,;	1210	62	74	SUCCESS
BCL9	607	.	GRCh37	1	147092307	147092307	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	34	71	0	ENST00000234739.3:c.2346A>T	p.Arg782Ser	p.R782S	ENST00000234739	NM_004326.3	782	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS30833.1	2346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACCATT	NONE	.	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5	.	.	ENSP00000234739	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000234739	Transcript	.	.	ENSG00000116128	1008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	tolerated(0.39)	.	BCL9_HUMAN	BCL9	HGNC	.	.	UPI000013C9B9	SNV	BCL9,missense_variant,p.Arg782Ser,ENST00000234739,;BCL9,downstream_gene_variant,,ENST00000473292,;	3086	72	120	SUCCESS
PGLYRP4	57115	.	GRCh37	1	153314164	153314164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	63	1	ENST00000359650.5:c.564G>T	p.Gln188His	p.Q188H	ENST00000359650	NM_020393.2	188	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS30871.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCTGAAC	NONE	.	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000352672	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000359650	Transcript	.	.	ENSG00000163218	30015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PGRP4_HUMAN	PGLYRP4	HGNC	.	.	UPI000013F78A	SNV	PGLYRP4,missense_variant,p.Gln184His,ENST00000368739,;PGLYRP4,missense_variant,p.Gln188His,ENST00000359650,;PGLYRP4,downstream_gene_variant,,ENST00000490266,;	629	64	116	SUCCESS
NUP210L	91181	.	GRCh37	1	154033436	154033436	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	186	102	241	0	ENST00000368559.3:c.2730T>C	p.Tyr910=	p.Y910=	ENST00000368559	NM_207308.2	910	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS41399.1	2730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTATAGAT	NONE	.	.	hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	19/40	.	.	.	.	.	.	.	.	.	19/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,synonymous_variant,p.%3D,ENST00000368559,;NUP210L,synonymous_variant,p.%3D,ENST00000271854,;NUP210L,upstream_gene_variant,,ENST00000368553,;	2802	241	288	SUCCESS
SPTA1	6708	.	GRCh37	1	158655024	158655024	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	85	191	1	ENST00000368147.4:c.138T>C	p.Gly46=	p.G46=	ENST00000368147	NM_003126.2	46	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41423.1	138	RADIA|VARSCANS	.	TTCTGACCCCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.5.170,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	2/52	.	.	.	.	.	.	.	.	.	2/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,synonymous_variant,p.%3D,ENST00000368147,;SPTA1,splice_region_variant,,ENST00000467387,;	319	193	188	SUCCESS
MNDA	4332	.	GRCh37	1	158817665	158817665	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139902913	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	51	112	0	ENST00000368141.4:c.1135C>A	p.Arg379Ser	p.R379S	ENST00000368141	NM_002432.1	379	Cgc/Agc	0	T:0.0007	.	.	.	.	A	R/S	protein_coding	YES	CCDS1177.1	1135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCGCAAG	NONE	byCluster	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200:SF18,hmmpanther:PTHR12200,Gene3D:2.40.50.140,Superfamily_domains:SSF159141	.	T:0	ENSP00000357123	.	6/7	.	.	.	.	.	.	.	.	rs139902913,COSM4023877	6/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.057)	.	tolerated(0.58)	0,1	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,missense_variant,p.Arg85Ser,ENST00000438394,;MNDA,missense_variant,p.Arg379Ser,ENST00000368141,;	1396	112	130	SUCCESS
TBX19	9095	.	GRCh37	1	168262484	168262484	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	63	0	ENST00000367821.3:c.571T>C	p.Phe191Leu	p.F191L	ENST00000367821	NM_005149.2	191	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1272.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGTTCATA	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF16,hmmpanther:PTHR11267,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937	.	.	ENSP00000356795	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000367821	Transcript	.	.	ENSG00000143178	11596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.03)	.	TBX19_HUMAN	TBX19	HGNC	.	.	UPI000003176C	SNV	TBX19,missense_variant,p.Phe124Leu,ENST00000431969,;TBX19,missense_variant,p.Phe191Leu,ENST00000367821,;TBX19,upstream_gene_variant,,ENST00000441464,;	622	63	112	SUCCESS
TDRD5	163589	.	GRCh37	1	179603595	179603595	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	149	0	ENST00000294848.8:c.1130A>T	p.Gln377Leu	p.Q377L	ENST00000294848	NM_173533.3	377	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS55663.1	1130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCAGTCAG	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.06)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Gln377Leu,ENST00000367614,;TDRD5,missense_variant,p.Gln377Leu,ENST00000444136,;TDRD5,missense_variant,p.Gln377Leu,ENST00000294848,;	1380	149	161	SUCCESS
EIF4G3	8672	.	GRCh37	1	21231426	21231426	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	136	327	0	ENST00000264211.8:c.1534C>T	p.Pro512Ser	p.P512S	ENST00000264211	NM_003760.4	512	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS55580.1	1552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGTTTCT	NONE	.	.	hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23	.	.	ENSP00000473510	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000602326	Transcript	.	.	ENSG00000075151	3298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious_low_confidence(0)	.	IF4G3_HUMAN	EIF4G3	HGNC	Q59GJ0_HUMAN,F5H564_HUMAN	.	UPI0001639589	SNV	EIF4G3,missense_variant,p.Pro512Ser,ENST00000400422,;EIF4G3,missense_variant,p.Pro55Ser,ENST00000544689,;EIF4G3,missense_variant,p.Pro116Ser,ENST00000536266,;EIF4G3,missense_variant,p.Pro518Ser,ENST00000374937,;EIF4G3,missense_variant,p.Pro232Ser,ENST00000374935,;EIF4G3,missense_variant,p.Pro518Ser,ENST00000602326,;EIF4G3,missense_variant,p.Pro512Ser,ENST00000264211,;EIF4G3,non_coding_transcript_exon_variant,,ENST00000374933,;EIF4G3,non_coding_transcript_exon_variant,,ENST00000496705,;	2136	327	364	SUCCESS
HEATR1	55127	.	GRCh37	1	236749628	236749628	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1049503654	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	273	197	481	2	ENST00000366582.3:c.1840A>G	p.Thr614Ala	p.T614A	ENST00000366582	NM_018072.5	614	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31066.1	1840	RADIA|VARSCANS	.	TTCCGTATCAT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR13457:SF1,hmmpanther:PTHR13457	.	.	ENSP00000355541	.	15/45	.	.	.	.	.	.	.	.	.	15/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.77)	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	SNV	HEATR1,missense_variant,p.Thr614Ala,ENST00000366581,;HEATR1,missense_variant,p.Thr614Ala,ENST00000366582,;	1955	483	470	SUCCESS
KIF26B	55083	.	GRCh37	1	245847619	245847619	+	synonymous_variant	Silent	SNP	G	G	A	rs201075952	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	57	0	ENST00000407071.2:c.2343G>A	p.Ala781=	p.A781=	ENST00000407071	NM_018012.3	781	gcG/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS44342.1	2343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGGTCGG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	A:0	.	ENSP00000385545	A:0.001	11/15	.	.	.	.	.	.	.	.	rs201075952	11/15	PASS	ENST00000407071	Transcript	.	A:0.0002	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	2783	57	105	SUCCESS
SCCPDH	51097	.	GRCh37	1	246923373	246923373	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	570	308	777	0	ENST00000366510.3:c.928A>T	p.Ile310Leu	p.I310L	ENST00000366510	NM_016002.2	310	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS31084.1	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCATAAAA	NONE	.	.	hmmpanther:PTHR12286,hmmpanther:PTHR12286:SF4,Pfam_domain:PF03435	.	.	ENSP00000355467	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000366510	Transcript	.	.	ENSG00000143653	24275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	SCPDL_HUMAN	SCCPDH	HGNC	.	.	UPI00000350AB	SNV	SCCPDH,missense_variant,p.Ile310Leu,ENST00000366510,;RP11-439E19.6,upstream_gene_variant,,ENST00000413092,;	1304	777	878	SUCCESS
EVA1B	55194	.	GRCh37	1	36788575	36788575	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748202520	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	87	141	0	ENST00000270824.1:c.64C>G	p.Arg22Gly	p.R22G	ENST00000270824	NM_018166.1	22	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS406.1	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCGGATGT	NONE	.	.	Pfam_domain:PF14851	.	.	ENSP00000270824	.	2/3	.	.	.	.	.	.	.	.	rs748202520	2/3	PASS	ENST00000270824	Transcript	.	.	ENSG00000142694	25558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.18)	.	EVA1B_HUMAN	EVA1B	HGNC	.	.	UPI0000072429	SNV	EVA1B,missense_variant,p.Arg22Gly,ENST00000270824,;SH3D21,downstream_gene_variant,,ENST00000505871,;SH3D21,downstream_gene_variant,,ENST00000426732,;RP11-268J15.5,upstream_gene_variant,,ENST00000373137,;SH3D21,downstream_gene_variant,,ENST00000312808,;SH3D21,downstream_gene_variant,,ENST00000373139,;SH3D21,downstream_gene_variant,,ENST00000453908,;EVA1B,non_coding_transcript_exon_variant,,ENST00000490466,;SH3D21,intron_variant,,ENST00000474766,;SH3D21,downstream_gene_variant,,ENST00000508854,;SH3D21,intron_variant,,ENST00000480549,;	356	141	233	SUCCESS
CYP4A22	284541	.	GRCh37	1	47610101	47610101	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	155	288	0	ENST00000371891.3:c.863A>G	p.His288Arg	p.H288R	ENST00000371891	NM_001010969.2	288	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS30707.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCACTTGG	NONE	.	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360958	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.23)	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	SNV	CYP4A22,missense_variant,p.His288Arg,ENST00000294337,;CYP4A22,missense_variant,p.His288Arg,ENST00000371891,;CYP4A22,synonymous_variant,p.%3D,ENST00000371890,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	894	288	393	SUCCESS
LRP8	7804	.	GRCh37	1	53715153	53715153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	48	76	1	ENST00000306052.6:c.2752C>A	p.Pro918Thr	p.P918T	ENST00000306052	NM_004631.4	918	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS578.1	2752	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGGGCTG	NONE	.	.	.	.	.	ENSP00000303634	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	tolerated_low_confidence(0.19)	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,missense_variant,p.Pro918Thr,ENST00000306052,;LRP8,missense_variant,p.Pro748Thr,ENST00000347547,;LRP8,intron_variant,,ENST00000465675,;LRP8,intron_variant,,ENST00000371454,;LRP8,intron_variant,,ENST00000354412,;RP5-1024G6.8,upstream_gene_variant,,ENST00000602943,;LRP8,3_prime_UTR_variant,,ENST00000480045,;LRP8,intron_variant,,ENST00000529670,;LRP8,downstream_gene_variant,,ENST00000459674,;	2854	78	129	SUCCESS
PTGER3	5733	.	GRCh37	1	71512812	71512812	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	22	0	ENST00000306666.5:c.449C>T	p.Ala150Val	p.A150V	ENST00000306666	NM_198719.1	150	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS655.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGCGCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000349003	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.3)	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,missense_variant,p.Ala150Val,ENST00000370932,;PTGER3,missense_variant,p.Ala150Val,ENST00000306666,;PTGER3,missense_variant,p.Ala150Val,ENST00000351052,;PTGER3,missense_variant,p.Ala150Val,ENST00000354608,;PTGER3,missense_variant,p.Ala150Val,ENST00000356595,;PTGER3,missense_variant,p.Ala150Val,ENST00000370924,;PTGER3,missense_variant,p.Ala150Val,ENST00000460330,;PTGER3,missense_variant,p.Ala150Val,ENST00000370931,;PTGER3,missense_variant,p.Ala150Val,ENST00000414819,;ZRANB2-AS1,upstream_gene_variant,,ENST00000450461,;PTGER3,missense_variant,p.Ala150Val,ENST00000361210,;PTGER3,missense_variant,p.Ala150Val,ENST00000479353,;PTGER3,missense_variant,p.Ala150Val,ENST00000497146,;	660	22	35	SUCCESS
FPGT	8790	.	GRCh37	1	74671212	74671212	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774351798	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	68	193	0	ENST00000609362.1:c.1481G>T	p.Gly494Val	p.G494V	ENST00000609362		494	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	1481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGAGTCT	NONE	byFrequency	.	hmmpanther:PTHR15045,Pfam_domain:PF07959,PIRSF_domain:PIRSF036640	.	.	ENSP00000476680	.	4/4	.	.	.	.	.	.	.	.	rs774351798	4/4	PASS	ENST00000609362	Transcript	.	.	ENSG00000254685	3825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	FPGT	HGNC	.	.	UPI000013D402	SNV	FPGT,missense_variant,p.Gly507Val,ENST00000370898,;FPGT,missense_variant,p.Gly240Val,ENST00000534056,;FPGT,missense_variant,p.Gly494Val,ENST00000609362,;FPGT,3_prime_UTR_variant,,ENST00000370894,;FPGT-TNNI3K,intron_variant,,ENST00000370895,;FPGT-TNNI3K,intron_variant,,ENST00000370893,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT-TNNI3K,intron_variant,,ENST00000370899,;TNNI3K,intron_variant,,ENST00000370891,;FPGT-TNNI3K,intron_variant,,ENST00000557284,;FPGT,downstream_gene_variant,,ENST00000482102,;FPGT,downstream_gene_variant,,ENST00000467578,;FPGT,downstream_gene_variant,,ENST00000472069,;FPGT,intron_variant,,ENST00000524915,;FPGT-TNNI3K,intron_variant,,ENST00000533006,;FPGT,downstream_gene_variant,,ENST00000529485,;	1518	194	197	SUCCESS
SEP15	0	.	GRCh37	1	87379862	87379862	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	35	0	ENST00000331835.5:c.-77del		p.*26*	ENST00000331835	NM_004261.3			0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR|VARSCANI	.	TGATCCAAAACA	NONE	.	.	.	.	.	ENSP00000328729	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000331835	Transcript	.	.	ENSG00000183291	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEP15_HUMAN	SEP15	Uniprot_gn	.	.	UPI0000161F5A	deletion	SEP15,5_prime_UTR_variant,,ENST00000331835,;HS2ST1,upstream_gene_variant,,ENST00000370550,;SEP15,upstream_gene_variant,,ENST00000370554,;HS2ST1,upstream_gene_variant,,ENST00000370551,;SEP15,upstream_gene_variant,,ENST00000401030,;SEP15,intron_variant,,ENST00000469566,;SEP15,upstream_gene_variant,,ENST00000467557,;	187	35	62	SUCCESS
SNRPB2	6629	.	GRCh37	20	16717950	16717950	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	372	211	496	1	ENST00000246071.6:c.282G>A	p.Met94Ile	p.M94I	ENST00000246071	NM_003092.4	94	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS13123.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGCGTGG	NONE	.	.	hmmpanther:PTHR10501,hmmpanther:PTHR10501:SF15,Superfamily_domains:SSF54928	.	.	ENSP00000246071	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000246071	Transcript	.	.	ENSG00000125870	11155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.2)	.	RU2B_HUMAN	SNRPB2	HGNC	.	.	UPI0000001051	SNV	SNRPB2,missense_variant,p.Met94Ile,ENST00000246071,;SNRPB2,missense_variant,p.Met94Ile,ENST00000377943,;SNRPB2,downstream_gene_variant,,ENST00000478522,;	498	497	584	SUCCESS
C20orf26	0	.	GRCh37	20	20056165	20056165	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	59	131	1	ENST00000245957.5:c.472G>T	p.Gly158Trp	p.G158W	ENST00000245957	NM_015585.3	158	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS33447.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGGGAAC	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0.02)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Gly158Trp,ENST00000451767,;C20orf26,missense_variant,p.Gly158Trp,ENST00000377306,;C20orf26,missense_variant,p.Gly158Trp,ENST00000245957,;C20orf26,missense_variant,p.Gly112Trp,ENST00000340348,;C20orf26,missense_variant,p.Gly158Trp,ENST00000377303,;C20orf26,missense_variant,p.Gly54Trp,ENST00000472660,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,downstream_gene_variant,,ENST00000475466,;C20orf26,downstream_gene_variant,,ENST00000494029,;	548	132	146	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3669214	3669214	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	68	0	ENST00000344754.4:c.5123T>A	p.Leu1708Gln	p.L1708Q	ENST00000344754	NM_023068.3	1708	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS13060.1	5123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGGGGT	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46	.	.	ENSP00000341141	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	deleterious_low_confidence(0)	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.Leu1708Gln,ENST00000344754,;SIGLEC1,missense_variant,p.Trp1684Arg,ENST00000202578,;SIGLEC1,3_prime_UTR_variant,,ENST00000419548,;	5123	68	88	SUCCESS
ELMO2	63916	.	GRCh37	20	45004003	45004003	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	70	132	0	ENST00000290246.6:c.937A>G	p.Arg313Gly	p.R313G	ENST00000290246	NM_133171.3	313	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS13398.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTTTGAG	NONE	.	.	PROSITE_profiles:PS51335,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF8,Pfam_domain:PF04727	.	.	ENSP00000290246	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000290246	Transcript	.	.	ENSG00000062598	17233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0.01)	.	ELMO2_HUMAN	ELMO2	HGNC	Q7Z5G9_HUMAN,Q5JVZ4_HUMAN,Q5BLP5_HUMAN,F5GZP8_HUMAN	.	UPI000013F6C4	SNV	ELMO2,missense_variant,p.Arg45Gly,ENST00000454865,;ELMO2,missense_variant,p.Arg325Gly,ENST00000439931,;ELMO2,missense_variant,p.Arg225Gly,ENST00000372176,;ELMO2,missense_variant,p.Arg313Gly,ENST00000396391,;ELMO2,missense_variant,p.Arg313Gly,ENST00000450812,;ELMO2,missense_variant,p.Arg130Gly,ENST00000445496,;ELMO2,missense_variant,p.Arg101Gly,ENST00000425546,;ELMO2,missense_variant,p.Arg313Gly,ENST00000290246,;ELMO2,missense_variant,p.Arg311Gly,ENST00000352077,;ELMO2,upstream_gene_variant,,ENST00000452857,;ELMO2,non_coding_transcript_exon_variant,,ENST00000481852,;ELMO2,non_coding_transcript_exon_variant,,ENST00000488853,;ELMO2,non_coding_transcript_exon_variant,,ENST00000462491,;ELMO2,upstream_gene_variant,,ENST00000464448,;ELMO2,downstream_gene_variant,,ENST00000480042,;ELMO2,missense_variant,p.Arg38Gly,ENST00000467800,;	1132	132	191	SUCCESS
SYCP2	10388	.	GRCh37	20	58444857	58444857	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	59	255	0	ENST00000357552.3:c.3737del	p.Arg1246LysfsTer6	p.R1246Kfs*6	ENST00000357552		1246	aGa/aa	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS13482.1	3737	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTCTCTTTTG	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	36/45	.	.	.	.	.	.	.	.	.	36/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	deletion	SYCP2,frameshift_variant,p.Arg1246LysfsTer6,ENST00000357552,;SYCP2,frameshift_variant,p.Arg1246LysfsTer6,ENST00000371001,;SYCP2,upstream_gene_variant,,ENST00000412613,;	3963	255	248	SUCCESS
NPBWR2	2832	.	GRCh37	20	62737266	62737266	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748131572	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	63	0	ENST00000369768.1:c.919G>A	p.Ala307Thr	p.A307T	ENST00000369768	NM_005286.2	307	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13557.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGCGTAGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000358783	.	1/1	.	.	.	.	.	.	.	.	rs748131572	1/1	PASS	ENST00000369768	Transcript	.	.	ENSG00000125522	4530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.39)	.	NPBW2_HUMAN	NPBWR2	HGNC	.	.	UPI000013CBB3	SNV	NPBWR2,missense_variant,p.Ala307Thr,ENST00000369768,;	1259	63	67	SUCCESS
NF2	4771	.	GRCh37	22	30050696	30050696	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	107	196	0	ENST00000338641.4:c.498G>T	p.Glu166Asp	p.E166D	ENST00000338641	NM_000268.3	166	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13861.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGGAATT	BUFFER|p.Q165fs*9|c.493delC|4	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000344666	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.43)	.	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	SNV	NF2,missense_variant,p.Glu166Asp,ENST00000403435,;NF2,missense_variant,p.Glu124Asp,ENST00000361676,;NF2,missense_variant,p.Glu166Asp,ENST00000338641,;NF2,missense_variant,p.Glu166Asp,ENST00000397789,;NF2,missense_variant,p.Glu83Asp,ENST00000353887,;NF2,missense_variant,p.Glu166Asp,ENST00000361166,;NF2,missense_variant,p.Glu166Asp,ENST00000403999,;NF2,missense_variant,p.Glu83Asp,ENST00000334961,;NF2,missense_variant,p.Glu125Asp,ENST00000361452,;NF2,intron_variant,,ENST00000347330,;NF2,intron_variant,,ENST00000413209,;NF2,intron_variant,,ENST00000432151,;	939	196	244	SUCCESS
ZC3H7B	23264	.	GRCh37	22	41739420	41739420	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs771064872	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	45	0	ENST00000352645.4:c.1299C>T		p.X433_splice	ENST00000352645	NM_017590.5	433	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14013.1	1299	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGCCCCCG	NONE	byFrequency	.	hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6	.	.	ENSP00000345793	.	13/23	.	.	.	.	.	.	.	.	rs771064872	13/23	PASS	ENST00000352645	Transcript	.	.	ENSG00000100403	30869	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z3H7B_HUMAN	ZC3H7B	HGNC	.	.	UPI000002B2AD	SNV	ZC3H7B,synonymous_variant,p.%3D,ENST00000352645,;ZC3H7B,synonymous_variant,p.%3D,ENST00000351589,;	1556	45	100	SUCCESS
FOXD4L1	200350	.	GRCh37	2	114257073	114257073	+	synonymous_variant	Silent	SNP	C	C	T	rs374836136	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	23	0	ENST00000306507.5:c.240C>T	p.Ser80=	p.S80=	ENST00000306507	NM_012184.4	80	agC/agT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS2117.1	240	MUTECT|MUSE	.	CCGAGCGACCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11829:SF139,hmmpanther:PTHR11829	.	T:0.0005	ENSP00000302756	.	1/1	.	.	.	.	.	.	.	.	rs374836136,COSM3406806	1/1	PASS	ENST00000306507	Transcript	.	.	ENSG00000184492	18521	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	FX4L1_HUMAN	FOXD4L1	HGNC	.	.	UPI000012ADD0	SNV	FOXD4L1,synonymous_variant,p.%3D,ENST00000306507,;CBWD2,downstream_gene_variant,,ENST00000416503,;CBWD2,downstream_gene_variant,,ENST00000433343,;CBWD2,downstream_gene_variant,,ENST00000259199,;CBWD2,downstream_gene_variant,,ENST00000468417,;CBWD2,downstream_gene_variant,,ENST00000456188,;CBWD2,downstream_gene_variant,,ENST00000358604,;CBWD2,downstream_gene_variant,,ENST00000479583,;	413	23	30	SUCCESS
NCKAP5	344148	.	GRCh37	2	133547663	133547663	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764852232	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	67	98	1	ENST00000409261.1:c.1025G>T	p.Ser342Ile	p.S342I	ENST00000409261	NM_207363.2	342	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS46418.1	1025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCTTGAA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	13/20	.	.	.	.	.	.	.	.	rs764852232	13/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Ser342Ile,ENST00000409213,;NCKAP5,missense_variant,p.Ser342Ile,ENST00000409261,;NCKAP5,missense_variant,p.Ser342Ile,ENST00000405974,;NCKAP5,missense_variant,p.Ser342Ile,ENST00000317721,;	1399	99	143	SUCCESS
NR4A2	4929	.	GRCh37	2	157186659	157186659	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	99	0	ENST00000339562.4:c.40G>A	p.Gly14Arg	p.G14R	ENST00000339562	NM_006186.3	14	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2201.1	40	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCTTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0,Prints_domain:PR01287	.	.	ENSP00000344479	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000339562	Transcript	.	.	ENSG00000153234	7981	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	NR4A2_HUMAN	NR4A2	HGNC	Q6NXU0_HUMAN,F1D8N6_HUMAN,C9JWQ1_HUMAN,C9IYM5_HUMAN	.	UPI0000036A18	SNV	NR4A2,missense_variant,p.Gly14Arg,ENST00000409108,;NR4A2,missense_variant,p.Gly25Arg,ENST00000539077,;NR4A2,missense_variant,p.Gly14Arg,ENST00000424077,;NR4A2,missense_variant,p.Gly14Arg,ENST00000409572,;NR4A2,missense_variant,p.Gly14Arg,ENST00000339562,;NR4A2,intron_variant,,ENST00000421709,;NR4A2,intron_variant,,ENST00000429376,;NR4A2,intron_variant,,ENST00000426264,;NR4A2,upstream_gene_variant,,ENST00000406048,;NR4A2,intron_variant,,ENST00000417764,;NR4A2,intron_variant,,ENST00000417972,;	403	99	130	SUCCESS
MYO3B	140469	.	GRCh37	2	171242774	171242774	+	synonymous_variant	Silent	SNP	T	T	C	rs1300424440	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	118	268	1	ENST00000408978.4:c.1366T>C	p.Leu456=	p.L456=	ENST00000408978	NM_138995.4	456	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42773.1	1366	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTCTTGGGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,synonymous_variant,p.%3D,ENST00000484338,;MYO3B,synonymous_variant,p.%3D,ENST00000408978,;MYO3B,synonymous_variant,p.%3D,ENST00000334231,;MYO3B,synonymous_variant,p.%3D,ENST00000409044,;MYO3B,downstream_gene_variant,,ENST00000442690,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,synonymous_variant,p.%3D,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	1509	270	341	SUCCESS
HOXD4	3233	.	GRCh37	2	177017653	177017653	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748779901	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	46	85	0	ENST00000306324.3:c.751G>C	p.Asp251His	p.D251H	ENST00000306324	NM_014621.2	251	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS2269.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGGACCTG	NONE	.	.	.	.	.	ENSP00000302548	.	2/2	.	.	.	.	.	.	.	.	rs748779901	2/2	PASS	ENST00000306324	Transcript	.	.	ENSG00000170166	5138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious_low_confidence(0)	.	HXD4_HUMAN	HOXD4	HGNC	.	.	UPI000012CF87	SNV	HOXD4,missense_variant,p.Asp251His,ENST00000306324,;HOXD3,5_prime_UTR_variant,,ENST00000468418,;HOXD3,intron_variant,,ENST00000432796,;MIR10B,downstream_gene_variant,,ENST00000385011,;	1163	85	125	SUCCESS
TTN	7273	.	GRCh37	2	179419703	179419703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	74	142	0	ENST00000591111.1:c.83560C>T	p.Leu27854Phe	p.L27854F	ENST00000591111		27854	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS59435.1	88483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGAGGTCCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	331/363	.	.	.	.	.	.	.	.	.	331/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu20555Phe,ENST00000359218,;TTN,missense_variant,p.Leu27854Phe,ENST00000591111,;TTN,missense_variant,p.Leu29495Phe,ENST00000589042,;TTN,missense_variant,p.Leu20622Phe,ENST00000342175,;TTN,missense_variant,p.Leu26927Phe,ENST00000342992,;TTN,missense_variant,p.Leu20430Phe,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;	88708	142	182	SUCCESS
CCDC108	0	.	GRCh37	2	219893116	219893116	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	88	141	0	ENST00000341552.5:c.1658T>C	p.Leu553Pro	p.L553P	ENST00000341552	NM_194302.3	553	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2430.2	1658	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACAGTGGG	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	12/35	.	.	.	.	.	.	.	.	.	12/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,missense_variant,p.Leu488Pro,ENST00000410037,;CCDC108,missense_variant,p.Leu553Pro,ENST00000441968,;CCDC108,missense_variant,p.Leu553Pro,ENST00000453220,;CCDC108,missense_variant,p.Leu542Pro,ENST00000409865,;CCDC108,missense_variant,p.Leu553Pro,ENST00000341552,;CCDC108,downstream_gene_variant,,ENST00000436631,;CCDC108,downstream_gene_variant,,ENST00000457968,;CCDC108,non_coding_transcript_exon_variant,,ENST00000462848,;CCDC108,non_coding_transcript_exon_variant,,ENST00000474601,;CCDC108,non_coding_transcript_exon_variant,,ENST00000463683,;	1742	141	231	SUCCESS
MLPH	79083	.	GRCh37	2	238449167	238449167	+	synonymous_variant	Silent	SNP	G	G	A	rs202229121	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	21	0	ENST00000264605.3:c.1281G>A	p.Ala427=	p.A427=	ENST00000264605	NM_024101.6	427	gcG/gcA	0	.	A:0	.	A:0.0014	.	A	A	protein_coding	YES	CCDS2518.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGGACCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF1	A:0	.	ENSP00000264605	A:0	10/16	.	.	.	.	.	.	.	.	rs202229121	10/16	PASS	ENST00000264605	Transcript	.	A:0.0002	ENSG00000115648	29643	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MELPH_HUMAN	MLPH	HGNC	Q53QV8_HUMAN,Q53QF3_HUMAN,C9JKV5_HUMAN,C9JI01_HUMAN	.	UPI00000730BF	SNV	MLPH,synonymous_variant,p.%3D,ENST00000445024,;MLPH,synonymous_variant,p.%3D,ENST00000409373,;MLPH,synonymous_variant,p.%3D,ENST00000264605,;MLPH,synonymous_variant,p.%3D,ENST00000436965,;MLPH,synonymous_variant,p.%3D,ENST00000410032,;MLPH,synonymous_variant,p.%3D,ENST00000437893,;MLPH,synonymous_variant,p.%3D,ENST00000338530,;MLPH,synonymous_variant,p.%3D,ENST00000415753,;MLPH,upstream_gene_variant,,ENST00000434770,;MLPH,non_coding_transcript_exon_variant,,ENST00000468178,;MLPH,downstream_gene_variant,,ENST00000485956,;MLPH,synonymous_variant,p.%3D,ENST00000432475,;MLPH,non_coding_transcript_exon_variant,,ENST00000495439,;MLPH,non_coding_transcript_exon_variant,,ENST00000464123,;MLPH,non_coding_transcript_exon_variant,,ENST00000478712,;MLPH,downstream_gene_variant,,ENST00000494110,;	1575	21	23	SUCCESS
SEPT2	0	.	GRCh37	2	242275425	242275425	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs533422343	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	70	127	0	ENST00000391973.2:c.253A>G	p.Thr85Ala	p.T85A	ENST00000391973	NM_006155.1	85	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2548.1	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAACTGTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF67,Pfam_domain:PF00735,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540,Prints_domain:PR01740	.	.	ENSP00000375834	.	5/13	.	.	.	.	.	.	.	.	rs533422343	5/13	PASS	ENST00000391973	Transcript	.	.	ENSG00000168385	7729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	tolerated(0.14)	.	SEPT2_HUMAN	SEPT2	HGNC	C9JZI2_HUMAN,C9JT15_HUMAN,C9JSE7_HUMAN,C9JG93_HUMAN,C9JFT1_HUMAN,C9JB25_HUMAN,C9J938_HUMAN,C9J2Q4_HUMAN,C9IZU3_HUMAN,C9IY94_HUMAN,B5MCX3_HUMAN	.	UPI000013585A	SNV	SEPT2,missense_variant,p.Thr96Ala,ENST00000411484,;SEPT2,missense_variant,p.Thr45Ala,ENST00000443492,;SEPT2,missense_variant,p.Thr85Ala,ENST00000360051,;SEPT2,missense_variant,p.Thr45Ala,ENST00000428282,;SEPT2,missense_variant,p.Thr57Ala,ENST00000457874,;SEPT2,missense_variant,p.Thr45Ala,ENST00000407017,;SEPT2,missense_variant,p.Thr95Ala,ENST00000401990,;SEPT2,missense_variant,p.Thr85Ala,ENST00000437066,;SEPT2,missense_variant,p.Thr85Ala,ENST00000436795,;SEPT2,missense_variant,p.Thr85Ala,ENST00000402092,;SEPT2,missense_variant,p.Thr85Ala,ENST00000449239,;SEPT2,missense_variant,p.Thr85Ala,ENST00000391973,;SEPT2,missense_variant,p.Thr45Ala,ENST00000407971,;SEPT2,missense_variant,p.Thr85Ala,ENST00000391971,;SEPT2,missense_variant,p.Thr85Ala,ENST00000434955,;SEPT2,downstream_gene_variant,,ENST00000428524,;SEPT2,downstream_gene_variant,,ENST00000445030,;SEPT2,upstream_gene_variant,,ENST00000421717,;SEPT2,downstream_gene_variant,,ENST00000441533,;SEPT2,downstream_gene_variant,,ENST00000420786,;SEPT2,non_coding_transcript_exon_variant,,ENST00000495463,;SEPT2,non_coding_transcript_exon_variant,,ENST00000466211,;SEPT2,non_coding_transcript_exon_variant,,ENST00000469175,;SEPT2,non_coding_transcript_exon_variant,,ENST00000366210,;SEPT2,non_coding_transcript_exon_variant,,ENST00000492978,;SEPT2,non_coding_transcript_exon_variant,,ENST00000475823,;SEPT2,non_coding_transcript_exon_variant,,ENST00000462147,;SEPT2,non_coding_transcript_exon_variant,,ENST00000494824,;SEPT2,intron_variant,,ENST00000464128,;SEPT2,3_prime_UTR_variant,,ENST00000425899,;SEPT2,3_prime_UTR_variant,,ENST00000457335,;SEPT2,non_coding_transcript_exon_variant,,ENST00000467971,;SEPT2,non_coding_transcript_exon_variant,,ENST00000473479,;SEPT2,non_coding_transcript_exon_variant,,ENST00000475474,;SEPT2,non_coding_transcript_exon_variant,,ENST00000469434,;SEPT2,non_coding_transcript_exon_variant,,ENST00000476841,;SEPT2,upstream_gene_variant,,ENST00000481500,;SEPT2,downstream_gene_variant,,ENST00000482304,;SEPT2,downstream_gene_variant,,ENST00000484740,;SEPT2,upstream_gene_variant,,ENST00000484167,;	781	127	187	SUCCESS
TET3	200424	.	GRCh37	2	74327943	74327943	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	41	0	ENST00000409262.3:c.3623A>T	p.Gln1208Leu	p.Q1208L	ENST00000409262	NM_144993.1	1208	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46339.1	3623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAGGCTG	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4,Pfam_domain:PF12851	.	.	ENSP00000386869	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000409262	Transcript	.	.	ENSG00000187605	28313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	deleterious(0.02)	.	TET3_HUMAN	TET3	HGNC	K9JJH7_HUMAN	.	UPI0000DD79F5	SNV	TET3,missense_variant,p.Gln1208Leu,ENST00000409262,;	3623	41	59	SUCCESS
DOK1	1796	.	GRCh37	2	74783904	74783904	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751060609	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	33	69	1	ENST00000233668.5:c.1109C>A	p.Pro370Gln	p.P370Q	ENST00000233668	NM_001381.3	370	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS1954.1	1109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCAGTCC	NONE	byFrequency	.	hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF46	.	.	ENSP00000233668	.	5/5	.	.	.	.	.	.	.	.	rs751060609	5/5	PASS	ENST00000233668	Transcript	.	.	ENSG00000115325	2990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	tolerated(0.14)	.	DOK1_HUMAN	DOK1	HGNC	Q2TA81_HUMAN	.	UPI00001296A9	SNV	DOK1,missense_variant,p.Pro231Gln,ENST00000409429,;DOK1,missense_variant,p.Pro370Gln,ENST00000233668,;DOK1,3_prime_UTR_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000413469,;M1AP,downstream_gene_variant,,ENST00000290536,;M1AP,downstream_gene_variant,,ENST00000536235,;LOXL3,upstream_gene_variant,,ENST00000264094,;LOXL3,upstream_gene_variant,,ENST00000409986,;M1AP,downstream_gene_variant,,ENST00000409585,;LOXL3,upstream_gene_variant,,ENST00000409249,;M1AP,downstream_gene_variant,,ENST00000358434,;LOXL3,upstream_gene_variant,,ENST00000409549,;LOXL3,upstream_gene_variant,,ENST00000393937,;DOK1,non_coding_transcript_exon_variant,,ENST00000480318,;DOK1,non_coding_transcript_exon_variant,,ENST00000489958,;DOK1,downstream_gene_variant,,ENST00000488613,;M1AP,downstream_gene_variant,,ENST00000485997,;LOXL3,upstream_gene_variant,,ENST00000484369,;M1AP,downstream_gene_variant,,ENST00000464686,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,downstream_gene_variant,,ENST00000496966,;DOK1,non_coding_transcript_exon_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000429631,;DOK1,downstream_gene_variant,,ENST00000475191,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000482206,;	1778	71	107	SUCCESS
ANKRD36C	400986	.	GRCh37	2	96589406	96589406	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	rs780640875	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	103	320	0	ENST00000456556.1:c.2070+3A>T		p.X690_splice	ENST00000456556		690		0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATTACCTT	NONE	.	3600	.	.	.	ENSP00000431824	.	.	.	.	.	.	.	.	.	.	rs780640875	.	PASS	ENST00000528268	Transcript	.	.	ENSG00000174501	32946	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ANKRD36C	HGNC	E9PJI0_HUMAN	.	UPI0001F78669	SNV	ANKRD36C,splice_region_variant,,ENST00000419039,;ANKRD36C,splice_region_variant,,ENST00000295246,;ANKRD36C,splice_region_variant,,ENST00000420871,;ANKRD36C,splice_region_variant,,ENST00000456556,;ANKRD36C,splice_region_variant,,ENST00000534304,;ANKRD36C,downstream_gene_variant,,ENST00000528268,;	.	320	329	SUCCESS
ZIC4	84107	.	GRCh37	3	147120535	147120535	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs148365070	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	61	159	0	ENST00000383075.3:c.50G>C	p.Arg17Pro	p.R17P	ENST00000383075	NM_032153.5	17	cGa/cCa	0	T:0.0003	T:0	.	T:0	.	G	R/P	protein_coding	YES	CCDS54652.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCGGTAA	CODON|p.R67Q|c.200G>A|6,CODON|p.R17Q|c.50G>A|6	byCluster|by1000G	.	.	T:0	T:0.001	ENSP00000435509	T:0.001	2/5	.	.	.	.	.	.	.	.	rs148365070,COSM1039618,COSM1233485	2/5	PASS	ENST00000525172	Transcript	.	T:0.0002	ENSG00000174963	20393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.969)	T:0	deleterious_low_confidence(0.01)	0,1,1	ZIC4_HUMAN	ZIC4	HGNC	C9JZU7_HUMAN,C9JD04_HUMAN,C9J6T3_HUMAN,B3KPI4_HUMAN	.	UPI0001914D88	SNV	ZIC4,missense_variant,p.Arg17Pro,ENST00000484399,;ZIC4,missense_variant,p.Arg55Pro,ENST00000425731,;ZIC4,missense_variant,p.Arg17Pro,ENST00000473123,;ZIC4,missense_variant,p.Arg17Pro,ENST00000383075,;ZIC4,missense_variant,p.Arg17Pro,ENST00000463250,;ZIC4,missense_variant,p.Arg17Pro,ENST00000491672,;ZIC4,missense_variant,p.Arg17Pro,ENST00000462748,;ZIC4,missense_variant,p.Arg67Pro,ENST00000525172,;ZIC4,missense_variant,p.Arg17Pro,ENST00000484586,;ZIC1,intron_variant,,ENST00000488404,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,downstream_gene_variant,,ENST00000464144,;	386	159	181	SUCCESS
ABCC5	10057	.	GRCh37	3	183667834	183667834	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	39	101	0	ENST00000334444.6:c.3024A>T	p.Ala1008=	p.A1008=	ENST00000334444	NM_005688.2	1008	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43176.1	3024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTGCGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000333926	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000334444	Transcript	.	.	ENSG00000114770	56	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP5_HUMAN	ABCC5	HGNC	C9JZL5_HUMAN	.	UPI000004A33C	SNV	ABCC5,synonymous_variant,p.%3D,ENST00000265586,;ABCC5,synonymous_variant,p.%3D,ENST00000334444,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;	3265	101	125	SUCCESS
TTC21A	199223	.	GRCh37	3	39171742	39171742	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs746350162	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	42	66	0	ENST00000431162.2:c.2233G>T	p.Glu745Ter	p.E745*	ENST00000431162		745	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS46800.1	2233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGAGAAG	NONE	byFrequency	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14699:SF2,hmmpanther:PTHR14699,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000398211	.	17/29	.	.	.	.	.	.	.	.	rs746350162	17/29	PASS	ENST00000431162	Transcript	.	.	ENSG00000168026	30761	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TT21A_HUMAN	TTC21A	HGNC	.	.	UPI00015D46B9	SNV	TTC21A,stop_gained,p.Glu697Ter,ENST00000440121,;TTC21A,stop_gained,p.Glu746Ter,ENST00000301819,;TTC21A,stop_gained,p.Glu745Ter,ENST00000431162,;TTC21A,non_coding_transcript_exon_variant,,ENST00000471025,;TTC21A,upstream_gene_variant,,ENST00000472866,;TTC21A,upstream_gene_variant,,ENST00000493856,;TTC21A,upstream_gene_variant,,ENST00000481734,;TTC21A,downstream_gene_variant,,ENST00000466875,;TTC21A,stop_gained,p.Glu738Ter,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000473587,;	2367	66	64	SUCCESS
KIAA1109	84162	.	GRCh37	4	123274094	123274094	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1054131463	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	47	110	0	ENST00000264501.4:c.13885G>A	p.Val4629Ile	p.V4629I	ENST00000264501		4629	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS43267.1	13885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGTATTG	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640,Pfam_domain:PF10479	.	.	ENSP00000264501	.	81/86	.	.	.	.	.	.	.	.	.	81/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Val1005Ile,ENST00000306802,;KIAA1109,missense_variant,p.Val1298Ile,ENST00000438707,;KIAA1109,missense_variant,p.Val4629Ile,ENST00000264501,;KIAA1109,missense_variant,p.Val4629Ile,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000491933,;	14258	110	139	SUCCESS
INPP4B	8821	.	GRCh37	4	143094941	143094941	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	252	143	364	2	ENST00000262992.4:c.1203C>A	p.Tyr401Ter	p.Y401*	ENST00000262992	NM_001101669.1	401	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS3757.1	1203	RADIA|VARSCANS	.	GAATAGTAAAT	NONE	.	.	hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	17/27	.	.	.	.	.	.	.	.	COSM1210706,COSM3974745,COSM3974744	17/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	.	.	.	1,1,1	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,stop_gained,p.Tyr216Ter,ENST00000511838,;INPP4B,stop_gained,p.Tyr401Ter,ENST00000508116,;INPP4B,stop_gained,p.Tyr401Ter,ENST00000509777,;INPP4B,stop_gained,p.Tyr272Ter,ENST00000514525,;INPP4B,stop_gained,p.Tyr401Ter,ENST00000262992,;INPP4B,stop_gained,p.Tyr401Ter,ENST00000513000,;INPP4B,stop_gained,p.Tyr401Ter,ENST00000308502,;INPP4B,stop_gained,p.Tyr401Ter,ENST00000510812,;INPP4B,missense_variant,p.Thr394Asn,ENST00000512630,;	1637	367	395	SUCCESS
RP11-665G4.1	0	.	GRCh37	4	15341666	15341666	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	24	0	ENST00000502344.1:n.87-76578A>G		p.*29*	ENST00000502344				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47025.1	.	RADIA|VARSCANS	.	AGCACTTTATT	NONE	.	.	.	.	.	ENSP00000295297	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295297	Transcript	.	.	ENSG00000163145	14342	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C1QT7_HUMAN	C1QTNF7	HGNC	J3KPK0_HUMAN	.	UPI000004E7F9	SNV	C1QTNF7,5_prime_UTR_variant,,ENST00000295297,;C1QTNF7,intron_variant,,ENST00000397700,;RP11-665G4.1,intron_variant,,ENST00000502344,;C1QTNF7,non_coding_transcript_exon_variant,,ENST00000512144,;C1QTNF7,non_coding_transcript_exon_variant,,ENST00000510958,;	107	24	33	SUCCESS
GRIA2	2891	.	GRCh37	4	158262498	158262498	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	344	213	547	0	ENST00000264426.9:c.1927G>A	p.Ala643Thr	p.A643T	ENST00000264426	NM_001083619.1	643	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3797.1	1927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTGCCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF81324,Prints_domain:PR00177	.	.	ENSP00000296526	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ala643Thr,ENST00000264426,;GRIA2,missense_variant,p.Ala596Thr,ENST00000507898,;GRIA2,missense_variant,p.Ala596Thr,ENST00000393815,;GRIA2,missense_variant,p.Ala643Thr,ENST00000296526,;GRIA2,missense_variant,p.Ala596Thr,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,missense_variant,p.Ala596Thr,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	2252	547	557	SUCCESS
GRIA2	2891	.	GRCh37	4	158262499	158262499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	340	210	540	0	ENST00000264426.9:c.1928C>A	p.Ala643Asp	p.A643D	ENST00000264426	NM_001083619.1	643	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS3797.1	1928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCTTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF81324,Prints_domain:PR00177	.	.	ENSP00000296526	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ala643Asp,ENST00000264426,;GRIA2,missense_variant,p.Ala596Asp,ENST00000507898,;GRIA2,missense_variant,p.Ala596Asp,ENST00000393815,;GRIA2,missense_variant,p.Ala643Asp,ENST00000296526,;GRIA2,missense_variant,p.Ala596Asp,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,missense_variant,p.Ala596Asp,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	2253	541	550	SUCCESS
FGFBP1	9982	.	GRCh37	4	15937856	15937856	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143214990	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	256	175	365	2	ENST00000382333.1:c.400G>A	p.Val134Met	p.V134M	ENST00000382333	NM_005130.4	134	Gtg/Atg	0	G:0.0011	.	.	.	.	T	V/M	protein_coding	YES	CCDS3418.1	400	RADIA|SOMATICSNIPER|VARSCANS	.	TTTCACAGCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15258:SF2,hmmpanther:PTHR15258,Pfam_domain:PF06473	.	G:0	ENSP00000371770	.	3/3	.	.	.	.	.	.	.	.	rs143214990	3/3	PASS	ENST00000382333	Transcript	.	.	ENSG00000137440	19695	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.175)	.	deleterious(0.01)	.	FGFP1_HUMAN	FGFBP1	HGNC	.	.	UPI000004A926	SNV	FGFBP1,missense_variant,p.Val134Met,ENST00000259988,;FGFBP1,missense_variant,p.Val134Met,ENST00000382333,;	695	367	431	SUCCESS
FNIP2	57600	.	GRCh37	4	159790073	159790073	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1414145142	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	49	0	ENST00000264433.6:c.2285A>T	p.Gln762Leu	p.Q762L	ENST00000264433	NM_020840.1	762	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47155.1	2285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCAGGTTT	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11	.	.	ENSP00000264433	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000264433	Transcript	.	.	ENSG00000052795	29280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.07)	.	FNIP2_HUMAN	FNIP2	HGNC	.	.	UPI00001C1E0A	SNV	FNIP2,missense_variant,p.Gln785Leu,ENST00000379346,;FNIP2,missense_variant,p.Gln762Leu,ENST00000264433,;FNIP2,downstream_gene_variant,,ENST00000512986,;FNIP2,upstream_gene_variant,,ENST00000505130,;	2360	50	92	SUCCESS
CEP135	9662	.	GRCh37	4	56846403	56846403	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	160	465	0	ENST00000257287.4:c.1568A>T	p.Gln523Leu	p.Q523L	ENST00000257287	NM_025009.4	523	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33986.1	1568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACAGTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10	.	.	ENSP00000257287	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000257287	Transcript	1	.	ENSG00000174799	29086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CP135_HUMAN	CEP135	HGNC	.	.	UPI00003CE420	SNV	CEP135,missense_variant,p.Gln523Leu,ENST00000257287,;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	1692	465	409	SUCCESS
SLIT3	6586	.	GRCh37	5	168127670	168127670	+	synonymous_variant	Silent	SNP	A	A	G	rs1203859802	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	53	126	1	ENST00000519560.1:c.2859T>C	p.Thr953=	p.T953=	ENST00000519560	NM_003062.3	953	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS4369.1	2859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGTGCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000430333	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,upstream_gene_variant,,ENST00000518092,;	3279	127	157	SUCCESS
LCP2	3937	.	GRCh37	5	169697820	169697820	+	synonymous_variant	Silent	SNP	G	G	A	rs561432915	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	109	191	1	ENST00000046794.5:c.426C>T	p.Asp142=	p.D142=	ENST00000046794	NM_005565.3	142	gaC/gaT	0	.	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS47339.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCGTCATC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1	A:0.001	.	ENSP00000046794	A:0	7/21	.	.	.	.	.	.	.	.	rs561432915	7/21	PASS	ENST00000046794	Transcript	.	A:0.0004	ENSG00000043462	6529	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,synonymous_variant,p.%3D,ENST00000046794,;LCP2,upstream_gene_variant,,ENST00000521416,;LCP2,upstream_gene_variant,,ENST00000520344,;LCP2,non_coding_transcript_exon_variant,,ENST00000519594,;LCP2,downstream_gene_variant,,ENST00000522823,;LCP2,downstream_gene_variant,,ENST00000522760,;	1042	192	297	SUCCESS
TBC1D9B	23061	.	GRCh37	5	179306101	179306101	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374982572	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	11	0	ENST00000356834.3:c.1513G>T	p.Val505Phe	p.V505F	ENST00000356834	NM_198868.2	505	Gtc/Ttc	0	T:0.0005	.	.	.	.	A	V/F	protein_coding	YES	CCDS43408.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACCAGTG	NONE	byCluster	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Gene3D:2qq8A02,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225	.	T:0	ENSP00000349291	.	9/22	.	.	.	.	.	.	.	.	rs374982572	9/22	PASS	ENST00000356834	Transcript	.	.	ENSG00000197226	29097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	TBC9B_HUMAN	TBC1D9B	HGNC	.	.	UPI000034ECFF	SNV	TBC1D9B,missense_variant,p.Val59Phe,ENST00000522472,;TBC1D9B,missense_variant,p.Val505Phe,ENST00000355235,;TBC1D9B,missense_variant,p.Val505Phe,ENST00000356834,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518459,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518115,;	1551	11	29	SUCCESS
TBC1D9B	23061	.	GRCh37	5	179306102	179306102	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	11	0	ENST00000356834.3:c.1512G>C	p.Leu504=	p.L504=	ENST00000356834	NM_198868.2	504	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43408.1	1512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCAGTGC	NONE	.	.	Superfamily_domains:SSF47923,Gene3D:2qq8A02,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225	.	.	ENSP00000349291	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000356834	Transcript	.	.	ENSG00000197226	29097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC9B_HUMAN	TBC1D9B	HGNC	.	.	UPI000034ECFF	SNV	TBC1D9B,synonymous_variant,p.%3D,ENST00000522472,;TBC1D9B,synonymous_variant,p.%3D,ENST00000355235,;TBC1D9B,synonymous_variant,p.%3D,ENST00000356834,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518459,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518115,;	1550	11	30	SUCCESS
RXFP3	51289	.	GRCh37	5	33937817	33937817	+	synonymous_variant	Silent	SNP	C	C	A	rs772154868	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	89	49	0	ENST00000330120.3:c.972C>A	p.Val324=	p.V324=	ENST00000330120	NM_016568.3	324	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3900.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCACCAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF48,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000328708	.	1/1	.	.	.	.	.	.	.	.	rs772154868	1/1	PASS	ENST00000330120	Transcript	.	.	ENSG00000182631	24883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL3R1_HUMAN	RXFP3	HGNC	.	.	UPI0000046AEB	SNV	RXFP3,synonymous_variant,p.%3D,ENST00000330120,;	1327	50	147	SUCCESS
SLC1A3	6507	.	GRCh37	5	36684073	36684073	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763798684	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	85	156	0	ENST00000265113.4:c.1397C>T	p.Thr466Met	p.T466M	ENST00000265113	NM_004172.4	466	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS3919.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACGCTCA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Prints_domain:PR00173,Superfamily_domains:0053221,Pfam_domain:PF00375,Gene3D:2nwlC00,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24	.	.	ENSP00000265113	.	9/10	.	.	.	.	.	.	.	.	rs763798684	9/10	PASS	ENST00000265113	Transcript	1	.	ENSG00000079215	10941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	EAA1_HUMAN	SLC1A3	HGNC	E7EUV6_HUMAN,E7EUS7_HUMAN	.	UPI0000129B0F	SNV	SLC1A3,missense_variant,p.Thr466Met,ENST00000265113,;SLC1A3,intron_variant,,ENST00000381918,;CTD-2353F22.1,intron_variant,,ENST00000510740,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000506178,;	1873	156	357	SUCCESS
EGFLAM	133584	.	GRCh37	5	38427282	38427282	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	40	82	0	ENST00000354891.3:c.1982T>A	p.Phe661Tyr	p.F661Y	ENST00000354891	NM_001205301.1	661	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS56363.1	1982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTTCCTGT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000346964	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.06)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Phe427Tyr,ENST00000336740,;EGFLAM,missense_variant,p.Phe661Tyr,ENST00000354891,;EGFLAM,missense_variant,p.Phe27Tyr,ENST00000397202,;EGFLAM,missense_variant,p.Phe661Tyr,ENST00000322350,;EGFLAM-AS1,non_coding_transcript_exon_variant,,ENST00000508986,;CTD-2108O9.4,downstream_gene_variant,,ENST00000513087,;	2328	82	154	SUCCESS
GPR98	0	.	GRCh37	5	89910835	89910835	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	rs759248697	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	58	206	0	ENST00000405460.2:c.206C>A	p.Ser69Ter	p.S69*	ENST00000405460	NM_032119.3	69	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS47246.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATCGGTAA	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	2/90	.	.	.	.	.	.	.	.	rs759248697	2/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,stop_gained,p.Ser69Ter,ENST00000405460,;GPR98,stop_gained,p.Ser73Ter,ENST00000508842,;	302	206	100	SUCCESS
CITED2	10370	.	GRCh37	6	139694674	139694674	+	synonymous_variant	Silent	SNP	C	C	T	rs1008223876	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	130	139	0	ENST00000367651.2:c.408G>A	p.Pro136=	p.P136=	ENST00000367651	NM_006079.4	136	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5195.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCGGCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17045:SF7,hmmpanther:PTHR17045,Pfam_domain:PF04487	.	.	ENSP00000356623	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367651	Transcript	.	.	ENSG00000164442	1987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CITE2_HUMAN	CITED2	HGNC	D9ZGF1_HUMAN	.	UPI00000373B9	SNV	CITED2,synonymous_variant,p.%3D,ENST00000537332,;CITED2,synonymous_variant,p.%3D,ENST00000536159,;CITED2,synonymous_variant,p.%3D,ENST00000367651,;	624	139	259	SUCCESS
CITED2	10370	.	GRCh37	6	139694675	139694675	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	133	138	1	ENST00000367651.2:c.407C>A	p.Pro136Gln	p.P136Q	ENST00000367651	NM_006079.4	136	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS5195.1	407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGGCATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17045:SF7,hmmpanther:PTHR17045,Pfam_domain:PF04487	.	.	ENSP00000356623	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367651	Transcript	.	.	ENSG00000164442	1987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CITE2_HUMAN	CITED2	HGNC	D9ZGF1_HUMAN	.	UPI00000373B9	SNV	CITED2,missense_variant,p.Pro136Gln,ENST00000537332,;CITED2,missense_variant,p.Pro136Gln,ENST00000536159,;CITED2,missense_variant,p.Pro136Gln,ENST00000367651,;	623	139	262	SUCCESS
RNF182	221687	.	GRCh37	6	13977395	13977395	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	77	103	0	ENST00000488300.1:c.45T>C	p.Ser15=	p.S15=	ENST00000488300	NM_152737.3	15	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4531.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTGATGA	NONE	.	.	hmmpanther:PTHR13139,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	SNV	RNF182,synonymous_variant,p.%3D,ENST00000537663,;RNF182,synonymous_variant,p.%3D,ENST00000420478,;RNF182,synonymous_variant,p.%3D,ENST00000544682,;RNF182,synonymous_variant,p.%3D,ENST00000488300,;RNF182,synonymous_variant,p.%3D,ENST00000423553,;RNF182,synonymous_variant,p.%3D,ENST00000488763,;RNF182,synonymous_variant,p.%3D,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;	568	103	178	SUCCESS
SASH1	23328	.	GRCh37	6	148867236	148867236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	47	57	0	ENST00000367467.3:c.3434T>A	p.Met1145Lys	p.M1145K	ENST00000367467	NM_015278.3	1145	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS5212.1	3434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATGGACC	NONE	.	.	hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301	.	.	ENSP00000356437	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	deleterious(0)	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,missense_variant,p.Met1145Lys,ENST00000367467,;	3909	57	93	SUCCESS
NOX3	50508	.	GRCh37	6	155718096	155718096	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs760677292	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	65	0	ENST00000159060.2:c.1581C>A	p.Ser527Arg	p.S527R	ENST00000159060	NM_015718.2	527	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS5250.1	1581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCTGCA	NONE	.	.	hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Gene3D:3.40.50.80,Pfam_domain:PF08030,Superfamily_domains:SSF52343,Prints_domain:PR00466	.	.	ENSP00000159060	.	13/14	.	.	.	.	.	.	.	.	rs760677292	13/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.65)	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,missense_variant,p.Ser527Arg,ENST00000159060,;	1684	65	139	SUCCESS
IGF2R	3482	.	GRCh37	6	160454027	160454027	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	53	131	0	ENST00000356956.1:c.1099G>T	p.Gly367Ter	p.G367*	ENST00000356956	NM_000876.2	367	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS5273.1	1099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGGAGAA	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,stop_gained,p.Gly367Ter,ENST00000356956,;	1247	131	181	SUCCESS
PDE10A	10846	.	GRCh37	6	165846593	165846593	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	77	205	0	ENST00000366882.1:c.532G>C	p.Gly178Arg	p.G178R	ENST00000366882		178	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS47513.1	562	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCCAGTAC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000438284	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,missense_variant,p.Gly178Arg,ENST00000354448,;PDE10A,missense_variant,p.Gly188Arg,ENST00000539869,;PDE10A,missense_variant,p.Gly178Arg,ENST00000366882,;	618	205	297	SUCCESS
BTN2A2	10385	.	GRCh37	6	26390936	26390936	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs200463511	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	464	184	469	1	ENST00000356709.4:c.952+1G>A		p.X318_splice	ENST00000356709	NM_001197240.1	318		0	-:0.0002	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS4606.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCGTAAGT	NONE	byCluster|by1000G	.	.	A:0	-:0	ENSP00000349143	A:0	.	.	.	.	.	.	.	.	.	rs200463511,rs759563161,COSM3860981,COSM3860982	.	PASS	ENST00000356709	Transcript	.	A:0.0002	ENSG00000124508	1137	.	.	HIGH	6/7	PRIMARY	.	.	.	.	5	0,0,1,1	.	.	.	A:0.001	.	0,0,1,1	BT2A2_HUMAN	BTN2A2	HGNC	C9JAJ6_HUMAN,C9J8R3_HUMAN,C9IZY2_HUMAN,C9IY66_HUMAN	.	UPI00000480EA	SNV	BTN2A2,splice_donor_variant,,ENST00000356709,;BTN2A2,splice_donor_variant,,ENST00000495632,;BTN2A2,splice_donor_variant,,ENST00000469230,;BTN2A2,splice_donor_variant,,ENST00000352867,;BTN2A2,splice_donor_variant,,ENST00000416795,;BTN2A2,splice_donor_variant,,ENST00000490025,;BTN2A2,splice_donor_variant,,ENST00000432533,;BTN2A2,splice_donor_variant,,ENST00000482536,;BTN2A2,downstream_gene_variant,,ENST00000472507,;BTN2A2,downstream_gene_variant,,ENST00000482842,;BTN2A2,downstream_gene_variant,,ENST00000493275,;BTN2A2,downstream_gene_variant,,ENST00000483410,;BTN2A2,non_coding_transcript_exon_variant,,ENST00000467485,;BTN2A2,downstream_gene_variant,,ENST00000471116,;	.	470	648	SUCCESS
PPARD	5467	.	GRCh37	6	35378867	35378867	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	65	0	ENST00000311565.4:c.3G>T	p.Met1?	p.M1?	ENST00000311565	NM_001171818.1	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4803.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATGGAGCA	NONE	.	.	.	.	.	ENSP00000310928	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000311565	Transcript	.	.	ENSG00000112033	9235	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	.	PPARD_HUMAN	PPARD	HGNC	F5H830_HUMAN	.	UPI000004EF98	SNV	PPARD,start_lost,p.Met1?,ENST00000444397,;PPARD,start_lost,p.Met1?,ENST00000418635,;PPARD,start_lost,p.Met1?,ENST00000360694,;PPARD,start_lost,p.Met1?,ENST00000311565,;PPARD,start_lost,p.Met1?,ENST00000337400,;PPARD,5_prime_UTR_variant,,ENST00000540939,;PPARD,intron_variant,,ENST00000448077,;	352	65	99	SUCCESS
MDGA1	266727	.	GRCh37	6	37605797	37605797	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	38	39	0	ENST00000434837.3:c.2776+184T>G		p.*926*	ENST00000434837	NM_153487.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47417.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTACACAA	NONE	.	.	.	.	.	ENSP00000402584	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	MODIFIER	16/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	SNV	MDGA1,3_prime_UTR_variant,,ENST00000505425,;MDGA1,intron_variant,,ENST00000297153,;MDGA1,intron_variant,,ENST00000434837,;MDGA1,downstream_gene_variant,,ENST00000418178,;MDGA1,downstream_gene_variant,,ENST00000503419,;MDGA1,intron_variant,,ENST00000373401,;	.	39	60	SUCCESS
FILIP1	27145	.	GRCh37	6	76024218	76024218	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	306	306	419	1	ENST00000237172.7:c.1330A>T	p.Lys444Ter	p.K444*	ENST00000237172	NM_015687.2	444	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4984.1	1330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTGCTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,stop_gained,p.Lys345Ter,ENST00000370020,;FILIP1,stop_gained,p.Lys444Ter,ENST00000393004,;FILIP1,stop_gained,p.Lys444Ter,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	1661	420	613	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113559066	113559066	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	50	0	ENST00000284601.3:c.-15A>G		p.*5*	ENST00000284601	NM_002711.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5759.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATATCAAAT	NONE	.	.	.	.	.	ENSP00000284601	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,5_prime_UTR_variant,,ENST00000284601,;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,upstream_gene_variant,,ENST00000284602,;	55	50	53	SUCCESS
NOM1	64434	.	GRCh37	7	156743259	156743259	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	53	87	1	ENST00000275820.3:c.828A>T	p.Ala276=	p.A276=	ENST00000275820	NM_138400.1	276	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34787.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAGAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034	.	.	ENSP00000275820	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000275820	Transcript	.	.	ENSG00000146909	13244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOM1_HUMAN	NOM1	HGNC	.	.	UPI000020E71F	SNV	NOM1,synonymous_variant,p.%3D,ENST00000275820,;RP5-1121A15.3,downstream_gene_variant,,ENST00000427073,;NOM1,upstream_gene_variant,,ENST00000460332,;	843	88	123	SUCCESS
AOAH	313	.	GRCh37	7	36633945	36633945	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	10	132	0	ENST00000258749.5:c.938G>A	p.Gly313Glu	p.G313E	ENST00000258749	NM_001637.3	313	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS5448.1	938	MUTECT|MUSE	.	CTTACCCAACA	NONE	.	.	hmmpanther:PTHR15010,Pfam_domain:PF00657	.	.	ENSP00000258749	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000258749	Transcript	.	.	ENSG00000136250	548	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	.	tolerated(0.27)	.	AOAH_HUMAN	AOAH	HGNC	.	.	UPI0000001291	SNV	AOAH,missense_variant,p.Gly281Glu,ENST00000535891,;AOAH,missense_variant,p.Gly35Glu,ENST00000538464,;AOAH,missense_variant,p.Gly313Glu,ENST00000431169,;AOAH,missense_variant,p.Gly313Glu,ENST00000258749,;AOAH-IT1,downstream_gene_variant,,ENST00000449672,;AOAH,splice_region_variant,,ENST00000487014,;AOAH,splice_region_variant,,ENST00000480201,;AOAH,splice_region_variant,,ENST00000495942,;	1338	132	187	SUCCESS
TPST1	8460	.	GRCh37	7	65751568	65751568	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	58	121	0	ENST00000304842.5:c.916A>G	p.Ile306Val	p.I306V	ENST00000304842	NM_003596.3	306	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5533.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGATACCG	NONE	.	.	hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF4,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000302413	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000304842	Transcript	.	.	ENSG00000169902	12020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.09)	.	TPST1_HUMAN	TPST1	HGNC	Q75ML6_HUMAN,Q75M96_HUMAN,C9K0F3_HUMAN,C9J3I4_HUMAN	.	UPI0000000CD1	SNV	TPST1,missense_variant,p.Ile306Val,ENST00000304842,;TPST1,non_coding_transcript_exon_variant,,ENST00000480281,;	1341	121	135	SUCCESS
CALN1	83698	.	GRCh37	7	71571275	71571275	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	43	0	ENST00000329008.5:c.123C>A	p.Ile41=	p.I41=	ENST00000329008	NM_001017440.2	41	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS47603.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCGGATTTC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000378690	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395275	Transcript	.	.	ENSG00000183166	13248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABP8_HUMAN	CALN1	HGNC	Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN	.	UPI0000D4B903	SNV	CALN1,synonymous_variant,p.%3D,ENST00000446128,;CALN1,synonymous_variant,p.%3D,ENST00000431984,;CALN1,synonymous_variant,p.%3D,ENST00000395276,;CALN1,synonymous_variant,p.%3D,ENST00000395275,;CALN1,synonymous_variant,p.%3D,ENST00000329008,;CALN1,synonymous_variant,p.%3D,ENST00000405452,;CALN1,synonymous_variant,p.%3D,ENST00000412588,;ABCF2P2,downstream_gene_variant,,ENST00000450549,;	638	43	55	SUCCESS
YWHAG	7532	.	GRCh37	7	75959524	75959524	+	synonymous_variant	Silent	SNP	C	C	G	rs749090391	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	32	0	ENST00000307630.3:c.114G>C	p.Ser38=	p.S38=	ENST00000307630	NM_012479.3	38	tcG/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS5584.1	114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTCGACAG	NONE	.	.	hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF2,Gene3D:3iquA00,Pfam_domain:PF00244,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Superfamily_domains:SSF48445,Prints_domain:PR00305	.	.	ENSP00000306330	.	2/2	.	.	.	.	.	.	.	.	rs749090391	2/2	PASS	ENST00000307630	Transcript	.	.	ENSG00000170027	12852	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	1433G_HUMAN	YWHAG	HGNC	B4DHC4_HUMAN	.	UPI000000106B	SNV	YWHAG,synonymous_variant,p.%3D,ENST00000307630,;	337	32	52	SUCCESS
SEMA3C	10512	.	GRCh37	7	80432006	80432006	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	52	118	0	ENST00000265361.3:c.891C>A	p.Gly297=	p.G297=	ENST00000265361	NM_006379.3	297	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5596.1	891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGCCGTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265361	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,synonymous_variant,p.%3D,ENST00000265361,;SEMA3C,synonymous_variant,p.%3D,ENST00000544525,;SEMA3C,synonymous_variant,p.%3D,ENST00000536800,;SEMA3C,synonymous_variant,p.%3D,ENST00000419255,;SEMA3C,upstream_gene_variant,,ENST00000475955,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;	1453	118	155	SUCCESS
C7orf62	0	.	GRCh37	7	88424306	88424306	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	236	124	340	1	ENST00000297203.2:c.-50T>A		p.*17*	ENST00000297203	NM_152706.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34678.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAATATT	NONE	.	.	.	.	.	ENSP00000297203	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297203	Transcript	.	.	ENSG00000164645	22402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG062_HUMAN	C7orf62	HGNC	.	.	UPI000005034C	SNV	C7orf62,5_prime_UTR_variant,,ENST00000297203,;ZNF804B,intron_variant,,ENST00000333190,;	137	341	360	SUCCESS
MCM7	4176	.	GRCh37	7	99693701	99693701	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775346451	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	56	0	ENST00000303887.5:c.1291G>T	p.Gly431Cys	p.G431C	ENST00000303887	NM_001278595.1	431	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5683.1	1291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCCTCTA	NONE	byFrequency	.	PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000307288	.	11/15	.	.	.	.	.	.	.	.	rs775346451	11/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,missense_variant,p.Gly255Cys,ENST00000354230,;MCM7,missense_variant,p.Gly431Cys,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;MCM7,downstream_gene_variant,,ENST00000425308,;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000303904,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000467516,;COPS6,downstream_gene_variant,,ENST00000474823,;MCM7,downstream_gene_variant,,ENST00000465738,;COPS6,downstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000463722,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000468499,;MCM7,downstream_gene_variant,,ENST00000465688,;COPS6,downstream_gene_variant,,ENST00000483891,;	1937	56	82	SUCCESS
COL22A1	169044	.	GRCh37	8	139736902	139736902	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	36	0	ENST00000303045.6:c.2203G>T	p.Gly735Ter	p.G735*	ENST00000303045	NM_152888.1	735	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS6376.1	2203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCAGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	25/65	.	.	.	.	.	.	.	.	.	25/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,stop_gained,p.Gly735Ter,ENST00000303045,;COL22A1,stop_gained,p.Gly735Ter,ENST00000435777,;COL22A1,upstream_gene_variant,,ENST00000341807,;	2650	37	43	SUCCESS
FGF20	26281	.	GRCh37	8	16853235	16853235	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	52	137	0	ENST00000180166.5:c.319C>A	p.Leu107Met	p.L107M	ENST00000180166	NM_019851.2	107	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5998.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGTCCCA	NONE	.	.	hmmpanther:PTHR11486:SF72,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263,Prints_domain:PR00262	.	.	ENSP00000180166	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000180166	Transcript	1	.	ENSG00000078579	3677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	.	deleterious(0.02)	.	FGF20_HUMAN	FGF20	HGNC	.	.	UPI00000374AE	SNV	FGF20,missense_variant,p.Leu107Met,ENST00000180166,;FGF20,intron_variant,,ENST00000519941,;	468	137	93	SUCCESS
ST6GALNAC6	30815	.	GRCh37	9	130658539	130658539	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	268	106	210	0	ENST00000291839.5:c.99A>G	p.Arg33=	p.R33=	ENST00000291839		33	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS6882.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTCTCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13713:SF45,hmmpanther:PTHR13713	.	.	ENSP00000362239	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000373146	Transcript	.	.	ENSG00000160408	23364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA7F_HUMAN	ST6GALNAC6	HGNC	.	.	UPI0000073734	SNV	ST6GALNAC6,synonymous_variant,p.%3D,ENST00000291839,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000373146,;ST6GALNAC6,synonymous_variant,p.%3D,ENST00000373142,;ST6GALNAC6,5_prime_UTR_variant,,ENST00000373141,;ST6GALNAC6,5_prime_UTR_variant,,ENST00000447681,;ST6GALNAC6,5_prime_UTR_variant,,ENST00000542456,;ST6GALNAC6,5_prime_UTR_variant,,ENST00000373144,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000494611,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000494541,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000485320,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000478319,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000463086,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000481355,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000480417,;	279	211	374	SUCCESS
PPP2R4	0	.	GRCh37	9	131909700	131909700	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781027271	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	42	41	0	ENST00000337738.1:c.1034A>G	p.Lys345Arg	p.K345R	ENST00000337738	NM_178001.2	345	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6920.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAAGTTCG	NONE	.	.	hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984	.	.	ENSP00000377036	.	10/10	.	.	.	.	.	.	.	.	rs781027271	10/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.34)	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,missense_variant,p.Lys281Arg,ENST00000357197,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000434095,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000432651,;PPP2R4,missense_variant,p.Lys310Arg,ENST00000393370,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000419582,;PPP2R4,missense_variant,p.Lys345Arg,ENST00000337738,;PPP2R4,missense_variant,p.Lys310Arg,ENST00000358994,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000414510,;PPP2R4,missense_variant,p.Lys268Arg,ENST00000355007,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000435132,;PPP2R4,missense_variant,p.Lys316Arg,ENST00000348141,;PPP2R4,missense_variant,p.Lys91Arg,ENST00000347048,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000423100,;PPP2R4,downstream_gene_variant,,ENST00000432124,;PPP2R4,downstream_gene_variant,,ENST00000435305,;PPP2R4,downstream_gene_variant,,ENST00000436883,;PPP2R4,downstream_gene_variant,,ENST00000524946,;PPP2R4,downstream_gene_variant,,ENST00000452489,;PPP2R4,downstream_gene_variant,,ENST00000411917,;PPP2R4,downstream_gene_variant,,ENST00000417728,;	1212	41	80	SUCCESS
PPP2R4	0	.	GRCh37	9	131909703	131909703	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	41	37	0	ENST00000337738.1:c.1037T>C	p.Phe346Ser	p.F346S	ENST00000337738	NM_178001.2	346	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS6920.1	932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTTCGGGA	NONE	.	.	hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984	.	.	ENSP00000377036	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,missense_variant,p.Phe282Ser,ENST00000357197,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000434095,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000432651,;PPP2R4,missense_variant,p.Phe311Ser,ENST00000393370,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000419582,;PPP2R4,missense_variant,p.Phe346Ser,ENST00000337738,;PPP2R4,missense_variant,p.Phe311Ser,ENST00000358994,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000414510,;PPP2R4,missense_variant,p.Phe269Ser,ENST00000355007,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000435132,;PPP2R4,missense_variant,p.Phe317Ser,ENST00000348141,;PPP2R4,missense_variant,p.Phe92Ser,ENST00000347048,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000423100,;PPP2R4,downstream_gene_variant,,ENST00000432124,;PPP2R4,downstream_gene_variant,,ENST00000435305,;PPP2R4,downstream_gene_variant,,ENST00000436883,;PPP2R4,downstream_gene_variant,,ENST00000524946,;PPP2R4,downstream_gene_variant,,ENST00000452489,;PPP2R4,downstream_gene_variant,,ENST00000411917,;PPP2R4,downstream_gene_variant,,ENST00000417728,;	1215	37	77	SUCCESS
KIAA2026	158358	.	GRCh37	9	5922996	5922996	+	synonymous_variant	Silent	SNP	C	C	T	rs1401584987	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	108	284	1	ENST00000399933.3:c.3000G>A	p.Gln1000=	p.Q1000=	ENST00000399933	NM_001017969.2	1000	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	.	3000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCTGGAG	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,synonymous_variant,p.%3D,ENST00000381461,;KIAA2026,synonymous_variant,p.%3D,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	3000	285	339	SUCCESS
CLCN4	1183	.	GRCh37	X	10174772	10174772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	128	126	0	ENST00000380833.4:c.799G>T	p.Ala267Ser	p.A267S	ENST00000380833	NM_001830.3	267	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14137.1	799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGCCTTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11689:SF18,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340,Prints_domain:PR00762	.	.	ENSP00000370213	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000380833	Transcript	.	.	ENSG00000073464	2022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	CLCN4_HUMAN	CLCN4	HGNC	Q75N13_HUMAN,B7Z5Z4_HUMAN	.	UPI0000127A99	SNV	CLCN4,missense_variant,p.Ala267Ser,ENST00000380833,;CLCN4,missense_variant,p.Ala173Ser,ENST00000421085,;CLCN4,missense_variant,p.Ala267Ser,ENST00000380829,;CLCN4,downstream_gene_variant,,ENST00000454850,;	1190	126	174	SUCCESS
RBMXL3	139804	.	GRCh37	X	114425456	114425456	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	29	0	ENST00000424776.3:c.1452A>T	p.Gly484=	p.G484=	ENST00000424776	NM_001145346.1	484	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS55478.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGAGGCTG	NONE	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,synonymous_variant,p.%3D,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	1494	29	57	SUCCESS
ARAF	369	.	GRCh37	X	47428285	47428285	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	80	51	0	ENST00000377045.4:c.1245G>T	p.Gln415His	p.Q415H	ENST00000377045	NM_001654.4	415	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS35232.1	1245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGGCAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF43,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000366244	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000377045	Transcript	.	.	ENSG00000078061	646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ARAF_HUMAN	ARAF	HGNC	Q96II5_HUMAN	.	UPI0000000C41	SNV	ARAF,missense_variant,p.Gln415His,ENST00000377045,;ARAF,downstream_gene_variant,,ENST00000377039,;ARAF,downstream_gene_variant,,ENST00000290277,;SYN1,downstream_gene_variant,,ENST00000295987,;SYN1,downstream_gene_variant,,ENST00000340666,;ARAF,downstream_gene_variant,,ENST00000489496,;ARAF,upstream_gene_variant,,ENST00000469505,;ARAF,upstream_gene_variant,,ENST00000470206,;	1439	51	100	SUCCESS
OPHN1	4983	.	GRCh37	X	67283856	67283856	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	160	103	0	ENST00000355520.5:c.1998A>T	p.Pro666=	p.P666=	ENST00000355520	NM_002547.2	666	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14388.1	1998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTGGGCA	NONE	.	.	hmmpanther:PTHR12552:SF2,hmmpanther:PTHR12552	.	.	ENSP00000347710	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000355520	Transcript	.	.	ENSG00000079482	8148	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPHN1_HUMAN	OPHN1	HGNC	Q7Z2H1_HUMAN	.	UPI000003319E	SNV	OPHN1,synonymous_variant,p.%3D,ENST00000355520,;OPHN1,intron_variant,,ENST00000540071,;OPHN1,non_coding_transcript_exon_variant,,ENST00000484842,;	2640	103	204	SUCCESS
MCM10	55388	.	GRCh37	10	13239672	13239672	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1405888729	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	104	134	0	ENST00000484800.2:c.2027C>T	p.Thr676Ile	p.T676I	ENST00000484800		676	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7096.1	2027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACAAACC	NONE	.	.	hmmpanther:PTHR13454,Pfam_domain:PF09332	.	.	ENSP00000418268	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000484800	Transcript	.	.	ENSG00000065328	18043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.1)	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,missense_variant,p.Thr676Ile,ENST00000484800,;MCM10,missense_variant,p.Thr675Ile,ENST00000378714,;MCM10,missense_variant,p.Thr675Ile,ENST00000378694,;MCM10,non_coding_transcript_exon_variant,,ENST00000481292,;MCM10,downstream_gene_variant,,ENST00000459751,;MCM10,upstream_gene_variant,,ENST00000485659,;	2130	134	249	SUCCESS
CCDC6	8030	.	GRCh37	10	61572436	61572436	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	70	121	0	ENST00000263102.6:c.804A>C	p.Glu268Asp	p.E268D	ENST00000263102	NM_005436.4	268	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS7257.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTTCATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15276:SF0,hmmpanther:PTHR15276,Pfam_domain:PF09755	.	.	ENSP00000263102	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000263102	Transcript	1	.	ENSG00000108091	18782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious(0.01)	.	CCDC6_HUMAN	CCDC6	HGNC	.	.	UPI000035B25A	SNV	CCDC6,missense_variant,p.Glu268Asp,ENST00000263102,;CCDC6,non_coding_transcript_exon_variant,,ENST00000518638,;	1036	121	83	SUCCESS
MUC5B	727897	.	GRCh37	11	1264490	1264490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1403730092	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	491	77	216	0	ENST00000529681.1:c.6380G>A	p.Ser2127Asn	p.S2127N	ENST00000529681	NM_002458.2	2127	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS44515.2	6380	RADIA|MUSE|VARSCANS	.	GACCAGTGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ser2127Asn,ENST00000529681,;MUC5B,missense_variant,p.Ser2130Asn,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	6438	217	569	SUCCESS
OR5L1	219437	.	GRCh37	11	55579471	55579471	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs758248920	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	654	95	495	0	ENST00000333973.2:c.529T>G	p.Phe177Val	p.F177V	ENST00000333973	NM_001004738.1	177	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS31509.1	529	RADIA|MUTECT|MUSE|VARSCANS	.	ACCACTTTTTC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	rs758248920	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Phe177Val,ENST00000333973,;	618	495	750	SUCCESS
OR10A2	341276	.	GRCh37	11	6891293	6891293	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	106	116	0	ENST00000307322.4:c.308C>T	p.Ala103Val	p.A103V	ENST00000307322	NM_001004460.1	103	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31415.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCTACCA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF90,PROSITE_profiles:PS50262	.	.	ENSP00000303862	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307322	Transcript	.	.	ENSG00000170790	8161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	deleterious(0.04)	.	O10A2_HUMAN	OR10A2	HGNC	.	.	UPI000015F21C	SNV	OR10A2,missense_variant,p.Ala103Val,ENST00000307322,;	370	116	236	SUCCESS
NCOR2	9612	.	GRCh37	12	124829344	124829344	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs888041970	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	17	0	ENST00000405201.1:c.4513G>A	p.Glu1505Lys	p.E1505K	ENST00000405201		1505	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41858.2	4513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGTAGC	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	32/47	.	.	.	.	.	.	.	.	COSM936711,COSM936710	32/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.85)	.	.	1,1	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Glu1512Lys,ENST00000356219,;NCOR2,missense_variant,p.Glu1066Lys,ENST00000404121,;NCOR2,missense_variant,p.Glu1495Lys,ENST00000429285,;NCOR2,missense_variant,p.Glu1505Lys,ENST00000405201,;NCOR2,missense_variant,p.Glu1495Lys,ENST00000404621,;NCOR2,missense_variant,p.Glu1496Lys,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000458234,;NCOR2,upstream_gene_variant,,ENST00000453428,;NCOR2,upstream_gene_variant,,ENST00000440187,;NCOR2,downstream_gene_variant,,ENST00000473999,;	4514	17	66	SUCCESS
TMEM132C	92293	.	GRCh37	12	128899692	128899692	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	51	0	ENST00000435159.2:c.501G>A	p.Leu167=	p.L167=	ENST00000435159	NM_001136103.2	167	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	.	501	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGCCATG	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4	.	.	ENSP00000410852	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000435159	Transcript	.	.	ENSG00000181234	25436	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T132C_HUMAN	TMEM132C	HGNC	F5H439_HUMAN,E9PC33_HUMAN	.	UPI0001C0B37C	SNV	TMEM132C,synonymous_variant,p.%3D,ENST00000435159,;	501	51	133	SUCCESS
BCAT1	586	.	GRCh37	12	25054956	25054956	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	8	0	ENST00000261192.7:c.7-137T>C		p.*3*	ENST00000261192	NM_005504.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53761.1	.	MUTECT|MUSE|VARSCANS	.	AGACAACCAAG	NONE	.	.	.	.	.	ENSP00000443459	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539282	Transcript	.	.	ENSG00000060982	976	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BCAT1_HUMAN	BCAT1	HGNC	.	.	UPI0001D27F89	SNV	BCAT1,5_prime_UTR_variant,,ENST00000538118,;BCAT1,intron_variant,,ENST00000539780,;BCAT1,intron_variant,,ENST00000539282,;BCAT1,intron_variant,,ENST00000546285,;BCAT1,intron_variant,,ENST00000342945,;BCAT1,intron_variant,,ENST00000261192,;AC026310.1,upstream_gene_variant,,ENST00000599478,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;	.	8	22	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43833853	43833853	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	41	0	ENST00000389420.3:c.2310G>T	p.Gly770=	p.G770=	ENST00000389420	NM_025003.3	770	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31778.2	2310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCCCTTC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF05986	.	.	ENSP00000374071	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;ADAMTS20,upstream_gene_variant,,ENST00000549670,;ADAMTS20,upstream_gene_variant,,ENST00000395541,;	2310	41	35	SUCCESS
KCNA1	3736	.	GRCh37	12	5021299	5021299	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	109	88	0	ENST00000382545.3:c.755A>G	p.Asn252Ser	p.N252S	ENST00000382545	NM_000217.2	252	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8535.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAACATCA	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.706)	.	tolerated(0.1)	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,missense_variant,p.Asn252Ser,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	1862	88	249	SUCCESS
SCN8A	6334	.	GRCh37	12	52056826	52056826	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	109	133	0	ENST00000354534.6:c.225C>T	p.Gly75=	p.G75=	ENST00000354534	NM_014191.3	75	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44891.1	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCCTGGT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132	.	.	ENSP00000346534	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000354534	Transcript	.	.	ENSG00000196876	10596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN8A_HUMAN	SCN8A	HGNC	Q9P2Q6_HUMAN,Q8WWN3_HUMAN	.	UPI000006FD85	SNV	SCN8A,synonymous_variant,p.%3D,ENST00000550891,;SCN8A,synonymous_variant,p.%3D,ENST00000354534,;SCN8A,synonymous_variant,p.%3D,ENST00000355133,;SCN8A,synonymous_variant,p.%3D,ENST00000545061,;SCN8A,downstream_gene_variant,,ENST00000546961,;	403	133	224	SUCCESS
KRT6C	286887	.	GRCh37	12	52863028	52863028	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754290645	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	50	0	ENST00000252250.6:c.1513A>T	p.Ser505Cys	p.S505C	ENST00000252250	NM_173086.4	505	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS8829.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGCCGA	BUFFER|p.V503V|c.1509C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141	.	.	ENSP00000252250	.	9/9	.	.	.	.	.	.	.	.	rs754290645	9/9	PASS	ENST00000252250	Transcript	.	.	ENSG00000170465	20406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.25)	.	K2C6C_HUMAN	KRT6C	HGNC	.	.	UPI00001AE73F	SNV	KRT6C,missense_variant,p.Ser505Cys,ENST00000252250,;KRT6C,downstream_gene_variant,,ENST00000553087,;	1561	50	108	SUCCESS
HOXC8	3224	.	GRCh37	12	54405067	54405067	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	32	39	0	ENST00000040584.4:c.631G>T	p.Asp211Tyr	p.D211Y	ENST00000040584	NM_022658.3	211	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8870.1	631	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGGATAAA	NONE	.	.	hmmpanther:PTHR24326:SF126,hmmpanther:PTHR24326,SMART_domains:SM00389	.	.	ENSP00000040584	.	2/2	.	.	.	.	.	.	.	.	COSM3792776	2/2	PASS	ENST00000040584	Transcript	.	.	ENSG00000037965	5129	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.976)	.	deleterious(0)	1	HXC8_HUMAN	HOXC8	HGNC	.	.	UPI000012CF77	SNV	HOXC8,missense_variant,p.Asp211Tyr,ENST00000040584,;HOXC6,intron_variant,,ENST00000509328,;HOXC6,intron_variant,,ENST00000504315,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,upstream_gene_variant,,ENST00000394331,;	868	39	135	SUCCESS
NFE2	4778	.	GRCh37	12	54687079	54687079	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	535	401	342	0	ENST00000312156.4:c.201C>A	p.Pro67=	p.P67=	ENST00000312156	NM_006163.2	67	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8876.1	201	RADIA|SOMATICSNIPER|VARSCANS	.	GAGCAGGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF30	.	.	ENSP00000439120	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000540264	Transcript	.	.	ENSG00000123405	7780	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFE2_HUMAN	NFE2	HGNC	F8W1N9_HUMAN,A8K3E0_HUMAN	.	UPI000012FFBA	SNV	NFE2,synonymous_variant,p.%3D,ENST00000540264,;NFE2,synonymous_variant,p.%3D,ENST00000553070,;NFE2,synonymous_variant,p.%3D,ENST00000312156,;NFE2,synonymous_variant,p.%3D,ENST00000553198,;NFE2,synonymous_variant,p.%3D,ENST00000435572,;RP11-968A15.8,intron_variant,,ENST00000553061,;	711	343	936	SUCCESS
C12orf55	0	.	GRCh37	12	97087577	97087577	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	108	0	ENST00000524981.4:c.6342A>G	p.Arg2114=	p.R2114=	ENST00000524981		2114	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	.	6342	RADIA|VARSCANS	.	GCAAGAATCCT	NONE	.	.	.	.	.	ENSP00000431759	.	45/68	.	.	.	.	.	.	.	.	COSM3399205	45/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,synonymous_variant,p.%3D,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	6365	108	36	SUCCESS
SLC9A7P1	121456	.	GRCh37	12	98850355	98850355	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	48	80	0	ENST00000554295.1:n.569C>T		p.*190*	ENST00000554295				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTATGGGTCG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000554295	Transcript	.	.	ENSG00000227825	32679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SLC9A7P1	HGNC	.	.	.	SNV	SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000554295,;SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000556476,;SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000370696,;	569	80	221	SUCCESS
MAP4K5	11183	.	GRCh37	14	50915494	50915494	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	26	187	0	ENST00000013125.4:c.1072A>G	p.Met358Val	p.M358V	ENST00000013125	NM_198794.2	358	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	.	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCATTTCAT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,PIRSF_domain:PIRSF038172	.	.	ENSP00000013125	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000013125	Transcript	.	.	ENSG00000012983	6867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.44)	.	M4K5_HUMAN	MAP4K5	HGNC	G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN	.	UPI00015DFDAA	SNV	MAP4K5,missense_variant,p.Met358Val,ENST00000013125,;RP11-406H23.2,upstream_gene_variant,,ENST00000555257,;MAP4K5,splice_region_variant,,ENST00000554990,;	1391	187	35	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68238928	68238928	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	63	128	0	ENST00000347230.4:c.5321-1G>A		p.X1774_splice	ENST00000347230	NM_015346.3	1774		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9788.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACCTGGGA	NONE	.	.	.	.	.	ENSP00000251119	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	HIGH	27/41	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,splice_acceptor_variant,,ENST00000555452,;ZFYVE26,splice_acceptor_variant,,ENST00000347230,;ZFYVE26,splice_acceptor_variant,,ENST00000554557,;ZFYVE26,splice_acceptor_variant,,ENST00000554523,;ZFYVE26,upstream_gene_variant,,ENST00000394455,;	.	128	81	SUCCESS
ATP10A	57194	.	GRCh37	15	25953217	25953217	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	112	76	0	ENST00000356865.6:c.2481G>A	p.Leu827=	p.L827=	ENST00000356865	NM_024490.3	827	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32178.1	2481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCAACCA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000349325	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,synonymous_variant,p.%3D,ENST00000356865,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;	2593	76	149	SUCCESS
ARNT2	9915	.	GRCh37	15	80767490	80767490	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	137	90	0	ENST00000303329.4:c.548T>G	p.Leu183Arg	p.L183R	ENST00000303329	NM_014862.3	183	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS32307.1	548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTGTATG	NONE	.	.	Superfamily_domains:SSF55785,SMART_domains:SM00091,Gene3D:3.30.450.20,Pfam_domain:PF00989,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6,PROSITE_profiles:PS50112	.	.	ENSP00000307479	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000303329	Transcript	1	.	ENSG00000172379	16876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	ARNT2_HUMAN	ARNT2	HGNC	H0YKW1_HUMAN	.	UPI00001FEA05	SNV	ARNT2,missense_variant,p.Leu183Arg,ENST00000303329,;ARNT2,missense_variant,p.Leu172Arg,ENST00000533983,;ARNT2,missense_variant,p.Leu172Arg,ENST00000527771,;ARNT2,intron_variant,,ENST00000525103,;ARNT2,non_coding_transcript_exon_variant,,ENST00000531595,;ARNT2,non_coding_transcript_exon_variant,,ENST00000529181,;	713	90	165	SUCCESS
VWA3A	146177	.	GRCh37	16	22126725	22126725	+	synonymous_variant	Silent	SNP	G	G	A	rs368919567	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	71	79	0	ENST00000389398.5:c.747G>A	p.Leu249=	p.L249=	ENST00000389398	NM_173615.3	249	ctG/ctA	0	.	A:0	.	A:0	.	A	L	protein_coding	YES	CCDS45441.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGCTACA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Pfam_domain:PF13768,Superfamily_domains:SSF53300	A:0	.	ENSP00000374049	A:0	9/34	.	.	.	.	.	.	.	.	rs368919567	9/34	common_in_exac	ENST00000389398	Transcript	.	A:0.0010	ENSG00000175267	27088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0051	.	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,synonymous_variant,p.%3D,ENST00000568328,;VWA3A,synonymous_variant,p.%3D,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,downstream_gene_variant,,ENST00000567131,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;VWA3A,downstream_gene_variant,,ENST00000562340,;	843	79	149	SUCCESS
ZNF668	79759	.	GRCh37	16	31072640	31072640	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	23	46	0	ENST00000394983.2:c.1609T>A	p.Ser537Thr	p.S537T	ENST00000394983		537	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54003.1	1678	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGAGCGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF15,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000442573	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000539836	Transcript	.	.	ENSG00000167394	25821	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.68)	.	.	ZNF668	HGNC	C9JHH8_HUMAN,C9JG35_HUMAN,C9JCJ0_HUMAN	.	UPI00001FFF53	SNV	ZNF668,missense_variant,p.Ser560Thr,ENST00000426488,;ZNF668,missense_variant,p.Ser537Thr,ENST00000300849,;ZNF668,missense_variant,p.Ser537Thr,ENST00000538906,;ZNF668,missense_variant,p.Ser560Thr,ENST00000539836,;ZNF668,missense_variant,p.Ser537Thr,ENST00000535577,;ZNF668,missense_variant,p.Ser537Thr,ENST00000394983,;ZNF668,downstream_gene_variant,,ENST00000417935,;ZNF668,downstream_gene_variant,,ENST00000414399,;ZNF668,downstream_gene_variant,,ENST00000442862,;ZNF668,upstream_gene_variant,,ENST00000417110,;AC135050.5,upstream_gene_variant,,ENST00000568708,;ZNF668,downstream_gene_variant,,ENST00000564456,;	2001	46	123	SUCCESS
TSNAXIP1	55815	.	GRCh37	16	67859123	67859123	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748946572	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	64	59	0	ENST00000388833.3:c.600C>A	p.Asp200Glu	p.D200E	ENST00000388833	NM_018430.2	200	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS10846.2	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACCTGAA	NONE	byFrequency	.	hmmpanther:PTHR16306:SF0,hmmpanther:PTHR16306	.	.	ENSP00000373485	.	7/16	.	.	.	.	.	.	.	.	rs748946572	7/16	PASS	ENST00000388833	Transcript	.	.	ENSG00000102904	18586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	tolerated(0.08)	.	TXIP1_HUMAN	TSNAXIP1	HGNC	J3QSH8_HUMAN,J3QQL6_HUMAN	.	UPI000059D3A6	SNV	TSNAXIP1,missense_variant,p.Asp71Glu,ENST00000431934,;TSNAXIP1,missense_variant,p.Asp200Glu,ENST00000388833,;TSNAXIP1,missense_variant,p.Asp64Glu,ENST00000567852,;TSNAXIP1,missense_variant,p.Asp185Glu,ENST00000415766,;TSNAXIP1,missense_variant,p.Asp254Glu,ENST00000561639,;TSNAXIP1,missense_variant,p.Asp157Glu,ENST00000565148,;CENPT,downstream_gene_variant,,ENST00000219172,;CENPT,downstream_gene_variant,,ENST00000564817,;CENPT,downstream_gene_variant,,ENST00000562787,;CENPT,downstream_gene_variant,,ENST00000440851,;CENPT,downstream_gene_variant,,ENST00000566758,;TSNAXIP1,downstream_gene_variant,,ENST00000561654,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000562321,;TSNAXIP1,3_prime_UTR_variant,,ENST00000466164,;TSNAXIP1,3_prime_UTR_variant,,ENST00000568990,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000569504,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000565339,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000487120,;CENPT,downstream_gene_variant,,ENST00000569862,;CENPT,downstream_gene_variant,,ENST00000565157,;CENPT,downstream_gene_variant,,ENST00000564128,;CENPT,downstream_gene_variant,,ENST00000574569,;TSNAXIP1,downstream_gene_variant,,ENST00000563363,;TSNAXIP1,upstream_gene_variant,,ENST00000565558,;CENPT,downstream_gene_variant,,ENST00000568495,;CENPT,downstream_gene_variant,,ENST00000563885,;CENPT,downstream_gene_variant,,ENST00000562513,;CENPT,downstream_gene_variant,,ENST00000436104,;	977	59	151	SUCCESS
GSE1	23199	.	GRCh37	16	85687939	85687940	+	frameshift_variant	Frame_Shift_Del	DEL	CG	CG	-	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	CG	CG	.	.	.	.	.	.	.	.	.	.	.	.	.	91	107	44	0	ENST00000253458.7:c.483_484del	p.Leu162ProfsTer188	p.L162Pfs*188	ENST00000253458	NM_014615.3	161	cCG/c	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10952.1	482-483	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCCCCGCTCCC	NONE	.	.	Pfam_domain:PF12540,hmmpanther:PTHR17608:SF3,hmmpanther:PTHR17608	.	.	ENSP00000253458	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000253458	Transcript	.	.	ENSG00000131149	28979	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GSE1_HUMAN	GSE1	HGNC	C9JLW9_HUMAN	.	UPI0000185F04	deletion	GSE1,frameshift_variant,p.Leu162ProfsTer188,ENST00000253458,;GSE1,frameshift_variant,p.Leu58ProfsTer?,ENST00000411612,;GSE1,frameshift_variant,p.Leu58ProfsTer188,ENST00000405402,;GSE1,frameshift_variant,p.Leu89ProfsTer188,ENST00000393243,;GSE1,upstream_gene_variant,,ENST00000412692,;	658-659	44	198	SUCCESS
ARHGAP23	57636	.	GRCh37	17	36622999	36622999	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	29	0	ENST00000431231.2:c.1075A>T	p.Thr359Ser	p.T359S	ENST00000431231	NM_001199417.1	359	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS56027.1	1075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCACCCGT	NONE	.	.	hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5	.	.	ENSP00000393539	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000431231	Transcript	.	.	ENSG00000225485	29293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.2)	.	RHG23_HUMAN	ARHGAP23	HGNC	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN	.	UPI0000F3BE51	SNV	ARHGAP23,missense_variant,p.Thr359Ser,ENST00000431231,;ARHGAP23,missense_variant,p.Thr265Ser,ENST00000443378,;ARHGAP23,missense_variant,p.Thr359Ser,ENST00000437668,;ARHGAP23,downstream_gene_variant,,ENST00000549246,;ARHGAP23,upstream_gene_variant,,ENST00000548333,;	1143	29	94	SUCCESS
GJC1	10052	.	GRCh37	17	42883077	42883077	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	87	122	0	ENST00000330514.4:c.109G>C	p.Ala37Pro	p.A37P	ENST00000330514		37	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS11487.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCTGTAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984:SF6,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00,Prints_domain:PR00206	.	.	ENSP00000411528	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426548	Transcript	.	.	ENSG00000182963	4280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	CXG1_HUMAN	GJC1	HGNC	Q5H9P2_HUMAN,K7EQ14_HUMAN,K7ENT9_HUMAN,K7EM78_HUMAN	.	UPI000013C62A	SNV	GJC1,missense_variant,p.Ala37Pro,ENST00000590758,;GJC1,missense_variant,p.Ala37Pro,ENST00000587239,;GJC1,missense_variant,p.Ala37Pro,ENST00000592524,;GJC1,missense_variant,p.Ala37Pro,ENST00000586267,;GJC1,missense_variant,p.Ala37Pro,ENST00000591424,;GJC1,missense_variant,p.Ala37Pro,ENST00000426548,;GJC1,missense_variant,p.Ala37Pro,ENST00000330514,;GJC1,upstream_gene_variant,,ENST00000586347,;GJC1,upstream_gene_variant,,ENST00000587113,;	379	122	206	SUCCESS
PITPNM3	83394	.	GRCh37	17	6360967	6360970	+	frameshift_variant	Frame_Shift_Del	DEL	AGGC	AGGC	-	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	AGGC	AGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	13	36	43	0	ENST00000262483.8:c.2563_2566del	p.Ala855ProfsTer20	p.A855Pfs*20	ENST00000262483	NM_031220.3	855	GCCTcc/cc	0	.	.	.	.	.	-	AS/X	protein_coding	YES	CCDS11076.1	2563-2566	INDELOCATOR|VARSCANI	.	TCTGGGAGGCAGGCA	NONE	.	.	hmmpanther:PTHR10658,Pfam_domain:PF08235,SMART_domains:SM00775,Superfamily_domains:SSF56784	.	.	ENSP00000262483	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000262483	Transcript	.	.	ENSG00000091622	21043	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PITM3_HUMAN	PITPNM3	HGNC	.	.	UPI000022A281	deletion	PITPNM3,frameshift_variant,p.Ala855ProfsTer20,ENST00000262483,;PITPNM3,frameshift_variant,p.Ala819ProfsTer20,ENST00000421306,;PITPNM3,downstream_gene_variant,,ENST00000575201,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;	2651-2654	43	49	SUCCESS
FAM20A	54757	.	GRCh37	17	66533757	66533757	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	77	135	0	ENST00000592554.1:c.1487T>C	p.Leu496Pro	p.L496P	ENST00000592554	NM_001243746.1	496	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11679.1	1487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAAGGAGG	NONE	.	.	Pfam_domain:PF06702,hmmpanther:PTHR12450:SF12,hmmpanther:PTHR12450	.	.	ENSP00000468308	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000592554	Transcript	.	.	ENSG00000108950	23015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.26)	.	FA20A_HUMAN	FAM20A	HGNC	L8B8N7_HUMAN	.	UPI00001AE65B	SNV	FAM20A,missense_variant,p.Leu496Pro,ENST00000592554,;PRKAR1A,intron_variant,,ENST00000588188,;PRKAR1A,downstream_gene_variant,,ENST00000392711,;PRKAR1A,downstream_gene_variant,,ENST00000358598,;PRKAR1A,downstream_gene_variant,,ENST00000536854,;PRKAR1A,downstream_gene_variant,,ENST00000589228,;FAM20A,non_coding_transcript_exon_variant,,ENST00000226094,;FAM20A,downstream_gene_variant,,ENST00000592847,;FAM20A,3_prime_UTR_variant,,ENST00000590873,;FAM20A,non_coding_transcript_exon_variant,,ENST00000375556,;FAM20A,downstream_gene_variant,,ENST00000590074,;PRKAR1A,downstream_gene_variant,,ENST00000392710,;	2210	135	217	SUCCESS
TMEM235	283999	.	GRCh37	17	76227658	76227658	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	51	24	0	ENST00000421688.1:c.104C>A	p.Pro35His	p.P35H	ENST00000421688		35	cCt/cAt	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56046.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCTGGCC	NONE	.	326	.	.	.	ENSP00000446514	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000551068	Transcript	.	.	ENSG00000204278	27563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM235_HUMAN	TMEM235	HGNC	.	.	UPI0000251E19	SNV	TMEM235,missense_variant,p.Pro35His,ENST00000421688,;TMEM235,5_prime_UTR_variant,,ENST00000586400,;TMEM235,5_prime_UTR_variant,,ENST00000374946,;TMEM235,upstream_gene_variant,,ENST00000591033,;TMEM235,upstream_gene_variant,,ENST00000550981,;TMEM235,upstream_gene_variant,,ENST00000551068,;	.	24	93	SUCCESS
DNAH17	8632	.	GRCh37	17	76421607	76421607	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	11	24	0	ENST00000389840.5:c.13030T>A	p.Trp4344Arg	p.W4344R	ENST00000389840		4344	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	.	13030	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCACACGG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374490	.	80/81	.	.	.	.	.	.	.	.	.	80/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Trp4316Arg,ENST00000585328,;DNAH17,missense_variant,p.Trp4344Arg,ENST00000389840,;AC061992.1,upstream_gene_variant,,ENST00000600087,;PGS1,downstream_gene_variant,,ENST00000329897,;PGS1,downstream_gene_variant,,ENST00000262764,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,downstream_gene_variant,,ENST00000586850,;DNAH17,downstream_gene_variant,,ENST00000592192,;PGS1,downstream_gene_variant,,ENST00000588281,;PGS1,downstream_gene_variant,,ENST00000586880,;DNAH17,stop_gained,p.Cys1528Ter,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000591647,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;PGS1,downstream_gene_variant,,ENST00000591996,;PGS1,downstream_gene_variant,,ENST00000589425,;PGS1,downstream_gene_variant,,ENST00000589426,;PGS1,downstream_gene_variant,,ENST00000588169,;	13155	24	80	SUCCESS
ENGASE	64772	.	GRCh37	17	77075702	77075702	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs779130522	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	76	58	0	ENST00000579016.1:c.548A>G	p.His183Arg	p.H183R	ENST00000579016	NM_001042573.2	183	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS42394.1	548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCATGGGG	NONE	byFrequency	.	Pfam_domain:PF03644,hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	4/14	.	.	.	.	.	.	.	.	rs779130522	4/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.07)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.His183Arg,ENST00000579016,;ENGASE,missense_variant,p.His142Arg,ENST00000311595,;ENGASE,intron_variant,,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,intron_variant,,ENST00000578419,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,upstream_gene_variant,,ENST00000583041,;ENGASE,upstream_gene_variant,,ENST00000577783,;ENGASE,upstream_gene_variant,,ENST00000300682,;ENGASE,upstream_gene_variant,,ENST00000583646,;	548	58	179	SUCCESS
LRRC45	201255	.	GRCh37	17	79982609	79982609	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750882545	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	45	0	ENST00000306688.3:c.323A>G	p.Lys108Arg	p.K108R	ENST00000306688	NM_144999.2	108	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11797.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAAACTCC	NONE	byFrequency	.	hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF3,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000306760	.	3/17	.	.	.	.	.	.	.	.	rs750882545	3/17	PASS	ENST00000306688	Transcript	.	.	ENSG00000169683	28302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.07)	.	LRC45_HUMAN	LRRC45	HGNC	.	.	UPI000006EF33	SNV	LRRC45,missense_variant,p.Lys108Arg,ENST00000306688,;LRRC45,5_prime_UTR_variant,,ENST00000577638,;STRA13,upstream_gene_variant,,ENST00000392359,;STRA13,upstream_gene_variant,,ENST00000580435,;STRA13,upstream_gene_variant,,ENST00000579520,;STRA13,upstream_gene_variant,,ENST00000306704,;STRA13,upstream_gene_variant,,ENST00000584347,;STRA13,upstream_gene_variant,,ENST00000584600,;LRRC45,non_coding_transcript_exon_variant,,ENST00000583383,;STRA13,upstream_gene_variant,,ENST00000583767,;STRA13,upstream_gene_variant,,ENST00000584514,;STRA13,upstream_gene_variant,,ENST00000580090,;STRA13,upstream_gene_variant,,ENST00000577379,;LRRC45,upstream_gene_variant,,ENST00000583302,;LRRC45,upstream_gene_variant,,ENST00000582083,;STRA13,upstream_gene_variant,,ENST00000585091,;LRRC45,upstream_gene_variant,,ENST00000581227,;	665	45	89	SUCCESS
FASN	2194	.	GRCh37	17	80051491	80051491	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	35	32	1	ENST00000306749.2:c.437T>C	p.Phe146Ser	p.F146S	ENST00000306749	NM_004104.4	146	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS11801.1	437	SOMATICSNIPER|VARSCANS	.	AGAAGAAGGAG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.47.10,Pfam_domain:PF00109,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	4/43	.	.	.	.	.	.	.	.	COSM3717787	4/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.961)	.	deleterious(0)	1	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Phe146Ser,ENST00000306749,;	656	33	68	SUCCESS
APC2	10297	.	GRCh37	19	1458093	1458098	+	intron_variant	Intron	DEL	CCAGCC	CCAGCC	-	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	CCAGCC	CCAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	18	23	33	0	ENST00000233607.2:c.1303+36_1303+41del		p.*435*	ENST00000233607	NM_005883.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12068.1	.	INDELOCATOR|VARSCANI	.	CATCCTCCAGCCCCCGA	NONE	.	.	.	.	.	ENSP00000442954	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	2	.	MODIFIER	9/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	deletion	APC2,intron_variant,,ENST00000233607,;APC2,intron_variant,,ENST00000238483,;APC2,intron_variant,,ENST00000590469,;APC2,intron_variant,,ENST00000535453,;APC2,downstream_gene_variant,,ENST00000587149,;C19orf25,downstream_gene_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000587869,;APC2,downstream_gene_variant,,ENST00000590877,;CTB-25B13.12,non_coding_transcript_exon_variant,,ENST00000588225,;CTB-25B13.12,non_coding_transcript_exon_variant,,ENST00000591252,;APC2,intron_variant,,ENST00000593146,;	.	33	41	SUCCESS
MBD3	53615	.	GRCh37	19	1578491	1578491	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	30	0	ENST00000434436.3:c.724G>T	p.Ala242Ser	p.A242S	ENST00000434436	NM_001281453.1	242	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12072.1	724	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGCCTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12396:SF5,hmmpanther:PTHR12396,Pfam_domain:PF14048	.	.	ENSP00000156825	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000156825	Transcript	.	.	ENSG00000071655	6918	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MBD3_HUMAN	MBD3	HGNC	K7EIE8_HUMAN,B3KMA8_HUMAN	.	UPI000003166B	SNV	MBD3,missense_variant,p.Ala210Ser,ENST00000592012,;MBD3,missense_variant,p.Ala242Ser,ENST00000156825,;MBD3,missense_variant,p.Ala186Ser,ENST00000590550,;MBD3,missense_variant,p.Ala242Ser,ENST00000434436,;AC005943.5,upstream_gene_variant,,ENST00000588960,;MBD3,downstream_gene_variant,,ENST00000585903,;MBD3,downstream_gene_variant,,ENST00000585967,;UQCR11,3_prime_UTR_variant,,ENST00000585937,;MBD3,non_coding_transcript_exon_variant,,ENST00000590830,;MBD3,non_coding_transcript_exon_variant,,ENST00000589901,;MBD3,downstream_gene_variant,,ENST00000589064,;AC005943.4,downstream_gene_variant,,ENST00000592406,;MBD3,downstream_gene_variant,,ENST00000592361,;	746	30	69	SUCCESS
SBSN	374897	.	GRCh37	19	36019030	36019030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	186	150	1	ENST00000452271.2:c.154G>T	p.Asp52Tyr	p.D52Y	ENST00000452271	NM_001166034.1	52	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54253.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCCAGGG	NONE	.	.	hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3	.	.	ENSP00000430242	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000452271	Transcript	.	.	ENSG00000189001	24950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	SBSN_HUMAN	SBSN	HGNC	.	.	UPI000059D6E7	SNV	SBSN,missense_variant,p.Asp52Tyr,ENST00000452271,;SBSN,missense_variant,p.Asp52Tyr,ENST00000518157,;SBSN,missense_variant,p.Asp32Tyr,ENST00000588674,;	183	151	335	SUCCESS
ZNF565	147929	.	GRCh37	19	36673862	36673862	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs373289614	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	44	85	0	ENST00000355114.5:c.1126G>T	p.Glu376Ter	p.E376*	ENST00000355114		376	Gag/Tag	0	T:0.0002	T:0	.	T:0	.	A	E/*	protein_coding	YES	CCDS12491.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCGTAGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF70,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0.002	T:0	ENSP00000376013	T:0	5/5	.	.	.	.	.	.	.	.	rs373289614	5/5	PASS	ENST00000392173	Transcript	.	T:0.0004	ENSG00000196357	26726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN565_HUMAN	ZNF565	HGNC	K7ESE2_HUMAN,K7EL42_HUMAN	.	UPI000006E728	SNV	ZNF565,stop_gained,p.Glu336Ter,ENST00000392173,;ZNF565,stop_gained,p.Glu336Ter,ENST00000304116,;ZNF565,stop_gained,p.Glu376Ter,ENST00000355114,;ZNF565,downstream_gene_variant,,ENST00000591473,;	1265	85	148	SUCCESS
WDR87	83889	.	GRCh37	19	38378936	38378936	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	216	107	295	0	ENST00000303868.5:c.5258A>T	p.Glu1753Val	p.E1753V	ENST00000303868	NM_031951.3	1753	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46063.1	5258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCTTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Glu1792Val,ENST00000447313,;WDR87,missense_variant,p.Glu1753Val,ENST00000303868,;	5483	295	323	SUCCESS
ZFP36	7538	.	GRCh37	19	39898413	39898413	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752054358	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	19	0	ENST00000248673.3:c.55G>T	p.Val19Leu	p.V19L	ENST00000248673	NM_003407.3	19	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS12534.2	73	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGTGCCA	NONE	byFrequency	.	hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF3	.	.	ENSP00000469647	.	2/2	.	.	.	.	.	.	.	.	rs752054358	2/2	common_in_exac	ENST00000597629	Transcript	.	.	ENSG00000128016	12862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.68)	.	.	ZFP36	HGNC	M0QY76_HUMAN	.	UPI000059D71E	SNV	ZFP36,missense_variant,p.Val36Leu,ENST00000594442,;ZFP36,missense_variant,p.Val25Leu,ENST00000597629,;ZFP36,missense_variant,p.Val26Leu,ENST00000600033,;ZFP36,missense_variant,p.Val19Leu,ENST00000248673,;ZFP36,3_prime_UTR_variant,,ENST00000594045,;PLEKHG2,upstream_gene_variant,,ENST00000409794,;MIR4530,downstream_gene_variant,,ENST00000581459,;	147	19	67	SUCCESS
B9D2	80776	.	GRCh37	19	41860879	41860879	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771723454	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	39	24	1	ENST00000243578.3:c.254G>T	p.Ser85Ile	p.S85I	ENST00000243578	NM_030578.3	85	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS12579.1	254	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGCTGTCC	NONE	byFrequency	.	PROSITE_profiles:PS51381,hmmpanther:PTHR12968,Pfam_domain:PF07162	.	.	ENSP00000243578	.	4/4	.	.	.	.	.	.	.	.	rs771723454	4/4	PASS	ENST00000243578	Transcript	1	.	ENSG00000123810	28636	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.022)	.	tolerated(0.25)	.	B9D2_HUMAN	B9D2	HGNC	.	.	UPI000013CB3B	SNV	B9D2,missense_variant,p.Ser85Ile,ENST00000243578,;TMEM91,intron_variant,,ENST00000604123,;TMEM91,intron_variant,,ENST00000539627,;TGFB1,upstream_gene_variant,,ENST00000221930,;CTC-435M10.3,intron_variant,,ENST00000604424,;B9D2,3_prime_UTR_variant,,ENST00000594416,;	474	25	62	SUCCESS
KDELR1	10945	.	GRCh37	19	48886580	48886580	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	48	39	0	ENST00000330720.2:c.609A>G	p.Leu203=	p.L203=	ENST00000330720	NM_006801.2	203	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12718.1	609	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTAGGAC	NONE	.	.	hmmpanther:PTHR10585:SF7,hmmpanther:PTHR10585	.	.	ENSP00000329471	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000330720	Transcript	.	.	ENSG00000105438	6304	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERD21_HUMAN	KDELR1	HGNC	Q8NBW7_HUMAN	.	UPI000012A0CA	SNV	KDELR1,synonymous_variant,p.%3D,ENST00000597017,;KDELR1,synonymous_variant,p.%3D,ENST00000330720,;KDELR1,downstream_gene_variant,,ENST00000600980,;	804	39	90	SUCCESS
NLRP2	55655	.	GRCh37	19	55493601	55493601	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	115	97	0	ENST00000448584.2:c.535A>T	p.Ser179Cys	p.S179C	ENST00000448584	NM_001174083.1	179	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12913.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATAGCAAA	NONE	.	.	hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.40.50.300	.	.	ENSP00000445135	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	deleterious(0.02)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Ser111Cys,ENST00000397169,;NLRP2,missense_variant,p.Ser110Cys,ENST00000585500,;NLRP2,missense_variant,p.Ser157Cys,ENST00000339757,;NLRP2,missense_variant,p.Ser179Cys,ENST00000543010,;NLRP2,missense_variant,p.Ser179Cys,ENST00000448584,;NLRP2,missense_variant,p.Ser156Cys,ENST00000427260,;NLRP2,missense_variant,p.Ser157Cys,ENST00000537859,;NLRP2,missense_variant,p.Ser176Cys,ENST00000263437,;NLRP2,missense_variant,p.Ser155Cys,ENST00000391721,;NLRP2,missense_variant,p.Ser155Cys,ENST00000538819,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000381637,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;	678	97	220	SUCCESS
LONP1	9361	.	GRCh37	19	5699211	5699211	+	synonymous_variant	Silent	SNP	G	G	A	rs763432896	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	27	16	0	ENST00000360614.3:c.1512C>T	p.Phe504=	p.F504=	ENST00000360614	NM_004793.3	504	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS12148.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATGAACTC	NONE	.	.	HAMAP:MF_03120,hmmpanther:PTHR10046:SF23,hmmpanther:PTHR10046,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00763,PIRSF_domain:PIRSF001174,Superfamily_domains:SSF52540	.	.	ENSP00000353826	.	10/18	.	.	.	.	.	.	.	.	rs763432896	10/18	PASS	ENST00000360614	Transcript	1	.	ENSG00000196365	9479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LONM_HUMAN	LONP1	HGNC	K7EKE6_HUMAN,F5GZ27_HUMAN	.	UPI000012E7EF	SNV	LONP1,synonymous_variant,p.%3D,ENST00000590206,;LONP1,synonymous_variant,p.%3D,ENST00000590729,;LONP1,synonymous_variant,p.%3D,ENST00000360614,;LONP1,synonymous_variant,p.%3D,ENST00000593119,;LONP1,synonymous_variant,p.%3D,ENST00000540670,;LONP1,synonymous_variant,p.%3D,ENST00000585374,;LONP1,upstream_gene_variant,,ENST00000589473,;LONP1,downstream_gene_variant,,ENST00000587365,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;LONP1,downstream_gene_variant,,ENST00000588589,;	1670	16	40	SUCCESS
ZIK1	284307	.	GRCh37	19	58101688	58101688	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	45	75	0	ENST00000597850.1:c.509G>T	p.Trp170Leu	p.W170L	ENST00000597850	NM_001010879.2	170	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS33135.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGGGAGG	NONE	.	.	hmmpanther:PTHR24387:SF194,hmmpanther:PTHR24387	.	.	ENSP00000472867	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000597850	Transcript	.	.	ENSG00000171649	33104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.74)	.	ZIK1_HUMAN	ZIK1	HGNC	M0R1S7_HUMAN,M0QYQ8_HUMAN	.	UPI00001609B2	SNV	ZIK1,missense_variant,p.Trp115Leu,ENST00000599456,;ZIK1,missense_variant,p.Trp157Leu,ENST00000536878,;ZIK1,missense_variant,p.Trp170Leu,ENST00000597850,;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598689,;ZIK1,downstream_gene_variant,,ENST00000600053,;ZIK1,downstream_gene_variant,,ENST00000598726,;	724	75	128	SUCCESS
MASP2	10747	.	GRCh37	1	11107262	11107262	+	start_lost,splice_region_variant	Translation_Start_Site	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	45	0	ENST00000400897.3:c.3G>A	p.Met1?	p.M1?	ENST00000400897	NM_006610.3	1	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS123.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTCATGGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001155,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF10	.	.	ENSP00000383690	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000400897	Transcript	.	.	ENSG00000009724	6902	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.01)	.	MASP2_HUMAN	MASP2	HGNC	.	.	UPI0000161FB9	SNV	MASP2,start_lost,p.Met1?,ENST00000400898,;MASP2,start_lost,p.Met1?,ENST00000400897,;MASP2,splice_region_variant,,ENST00000480221,;MASP2,upstream_gene_variant,,ENST00000478645,;	19	45	92	SUCCESS
SRM	6723	.	GRCh37	1	11119332	11119332	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	82	68	0	ENST00000376957.2:c.238C>T	p.Gln80Ter	p.Q80*	ENST00000376957	NM_003132.2	80	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS125.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGGTAGG	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:3.40.50.150,TIGRFAM_domain:TIGR00417,Pfam_domain:PF01564,hmmpanther:PTHR11558,PROSITE_profiles:PS51006,HAMAP:MF_00198	.	.	ENSP00000366156	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376957	Transcript	.	.	ENSG00000116649	11296	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEE_HUMAN	SRM	HGNC	.	.	UPI0000049054	SNV	SRM,stop_gained,p.Gln54Ter,ENST00000487300,;SRM,stop_gained,p.Gln80Ter,ENST00000376957,;SRM,upstream_gene_variant,,ENST00000490101,;SRM,upstream_gene_variant,,ENST00000465788,;SRM,synonymous_variant,p.%3D,ENST00000459997,;SRM,upstream_gene_variant,,ENST00000475189,;	319	68	273	SUCCESS
DHRS3	9249	.	GRCh37	1	12677249	12677249	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771890260	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	63	52	0	ENST00000376223.2:c.105C>A	p.Asp35Glu	p.D35E	ENST00000376223	NM_004753.4	35	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS146.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGGTCCCG	NONE	.	.	hmmpanther:PTHR24316:SF322,hmmpanther:PTHR24316,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735	.	.	ENSP00000365397	.	1/6	.	.	.	.	.	.	.	.	rs771890260	1/6	PASS	ENST00000376223	Transcript	.	.	ENSG00000162496	17693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	deleterious(0)	.	DHRS3_HUMAN	DHRS3	HGNC	Q5SUY4_HUMAN,Q0QD44_HUMAN	.	UPI000006EE74	SNV	DHRS3,missense_variant,p.Asp35Glu,ENST00000376223,;RP11-474O21.5,downstream_gene_variant,,ENST00000606790,;DHRS3,upstream_gene_variant,,ENST00000482265,;DHRS3,upstream_gene_variant,,ENST00000464917,;	489	52	115	SUCCESS
RUSC1-AS1	284618	.	GRCh37	1	155291138	155291138	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	479	86	189	0	ENST00000446880.1:n.198T>C		p.*66*	ENST00000446880				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41410.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGAGTAAG	NONE	.	.	.	.	.	ENSP00000357336	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,intron_variant,,ENST00000368352,;RUSC1,intron_variant,,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000450199,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000543656,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000446880,;RUSC1-AS1,intron_variant,,ENST00000443642,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	.	189	565	SUCCESS
IFI16	3428	.	GRCh37	1	159015214	159015214	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	922	148	766	0	ENST00000295809.7:c.1457A>T	p.Gln486Leu	p.Q486L	ENST00000295809		486	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS1180.3	1457	RADIA|MUSE|VARSCANS	.	TCCTCAGATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12200:SF5,hmmpanther:PTHR12200	.	.	ENSP00000357113	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000368131	Transcript	.	.	ENSG00000163565	5395	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.133)	.	tolerated(0.08)	.	IF16_HUMAN	IFI16	HGNC	H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN	.	UPI00001412C9	SNV	IFI16,missense_variant,p.Gln486Leu,ENST00000295809,;IFI16,missense_variant,p.Gln434Leu,ENST00000430894,;IFI16,missense_variant,p.Gln486Leu,ENST00000368131,;IFI16,missense_variant,p.Gln430Leu,ENST00000359709,;IFI16,intron_variant,,ENST00000340979,;IFI16,intron_variant,,ENST00000368132,;IFI16,intron_variant,,ENST00000448393,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,intron_variant,,ENST00000562225,;IFI16,intron_variant,,ENST00000483916,;	1747	766	1070	SUCCESS
TMEM82	388595	.	GRCh37	1	16073479	16073479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	94	126	0	ENST00000375782.1:c.875T>A	p.Leu292His	p.L292H	ENST00000375782	NM_001013641.2	292	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS30608.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTTGTCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000364938	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000375782	Transcript	.	.	ENSG00000162460	32350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	TMM82_HUMAN	TMEM82	HGNC	.	.	UPI0000458A15	SNV	TMEM82,missense_variant,p.Leu292His,ENST00000375782,;RP11-169K16.4,intron_variant,,ENST00000418525,;TMEM82,downstream_gene_variant,,ENST00000465575,;	1013	126	325	SUCCESS
FBXO42	54455	.	GRCh37	1	16577289	16577289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	123	207	1	ENST00000375592.3:c.2030G>T	p.Ser677Ile	p.S677I	ENST00000375592	NM_018994.1	677	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS30613.1	2030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCTGGTT	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF250	.	.	ENSP00000364742	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	SNV	FBXO42,missense_variant,p.Ser677Ile,ENST00000375592,;FBXO42,downstream_gene_variant,,ENST00000444116,;FBXO42,downstream_gene_variant,,ENST00000456164,;	2247	208	354	SUCCESS
KISS1	3814	.	GRCh37	1	204159887	204159887	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs928040235	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	42	20	0	ENST00000367194.4:c.142G>T	p.Glu48Ter	p.E48*	ENST00000367194	NM_002256.3	48	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS41454.1	142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCCCGG	NONE	.	.	hmmpanther:PTHR16955,hmmpanther:PTHR16955:SF6,Pfam_domain:PF15152	.	.	ENSP00000356162	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367194	Transcript	.	.	ENSG00000170498	6341	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KISS1_HUMAN	KISS1	HGNC	.	.	UPI000007059D	SNV	KISS1,stop_gained,p.Glu48Ter,ENST00000367194,;	291	20	80	SUCCESS
NUAK2	81788	.	GRCh37	1	205272673	205272673	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	71	49	0	ENST00000367157.3:c.1792G>C	p.Asp598His	p.D598H	ENST00000367157	NM_030952.1	598	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS1453.1	1792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATCCTGCC	NONE	.	.	hmmpanther:PTHR24343:SF133,hmmpanther:PTHR24343	.	.	ENSP00000356125	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367157	Transcript	.	.	ENSG00000163545	29558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	tolerated_low_confidence(0.06)	.	NUAK2_HUMAN	NUAK2	HGNC	Q68E04_HUMAN,B4E0Y5_HUMAN	.	UPI0000037D77	SNV	NUAK2,missense_variant,p.Asp598His,ENST00000367157,;	1919	49	180	SUCCESS
LAMB3	3914	.	GRCh37	1	209789918	209789918	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	378	200	157	0	ENST00000356082.4:c.3280C>T	p.Gln1094Ter	p.Q1094*	ENST00000356082	NM_000228.2	1094	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1487.1	3280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGACCCA	NONE	.	.	hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574	.	.	ENSP00000375778	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,stop_gained,p.Gln1094Ter,ENST00000356082,;LAMB3,stop_gained,p.Gln1094Ter,ENST00000391911,;LAMB3,stop_gained,p.Gln1094Ter,ENST00000367030,;LAMB3,downstream_gene_variant,,ENST00000455193,;CAMK1G,downstream_gene_variant,,ENST00000361322,;CAMK1G,downstream_gene_variant,,ENST00000009105,;CAMK1G,downstream_gene_variant,,ENST00000494990,;	3670	157	578	SUCCESS
B3GALNT2	148789	.	GRCh37	1	235628772	235628772	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	12	0	ENST00000366600.3:c.841+181T>A		p.*281*	ENST00000366600	NM_152490.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1606.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGAGGTGG	NONE	.	.	.	.	.	ENSP00000355559	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366600	Transcript	.	.	ENSG00000162885	28596	.	.	MODIFIER	7/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GL2_HUMAN	B3GALNT2	HGNC	.	.	UPI0000071B30	SNV	B3GALNT2,3_prime_UTR_variant,,ENST00000313984,;B3GALNT2,intron_variant,,ENST00000366600,;B3GALNT2,intron_variant,,ENST00000477694,;B3GALNT2,intron_variant,,ENST00000462374,;B3GALNT2,3_prime_UTR_variant,,ENST00000478199,;	.	12	19	SUCCESS
EXO1	9156	.	GRCh37	1	242045224	242045224	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	73	433	1	ENST00000348581.5:c.2116G>A	p.Asp706Asn	p.D706N	ENST00000348581	NM_003686.4	706	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1620.1	2116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTGATTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.06)	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Asp706Asn,ENST00000348581,;EXO1,missense_variant,p.Asp706Asn,ENST00000518483,;EXO1,missense_variant,p.Asp706Asn,ENST00000366548,;EXO1,intron_variant,,ENST00000521202,;EXO1,upstream_gene_variant,,ENST00000518741,;	2709	434	194	SUCCESS
RCC1	1104	.	GRCh37	1	28863318	28863318	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs547058163	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	128	79	0	ENST00000373832.1:c.997G>A	p.Glu333Lys	p.E333K	ENST00000373832	NM_001269.4	333	Gag/Aag	0	.	A:0	.	A:0.0014	.	A	E/K	protein_coding	YES	CCDS41295.1	1090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGAGGAG	NONE	by1000G	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF123,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	A:0	.	ENSP00000362937	A:0	10/11	.	.	.	.	.	.	.	.	rs547058163	10/11	PASS	ENST00000373831	Transcript	.	A:0.0002	ENSG00000180198	1913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	A:0	tolerated(0.19)	.	RCC1_HUMAN	RCC1	HGNC	.	.	UPI0000204066	SNV	RCC1,missense_variant,p.Glu364Lys,ENST00000373831,;RCC1,missense_variant,p.Glu333Lys,ENST00000373833,;RCC1,missense_variant,p.Glu333Lys,ENST00000398958,;RCC1,missense_variant,p.Glu333Lys,ENST00000373832,;RCC1,missense_variant,p.Glu350Lys,ENST00000411533,;RCC1,downstream_gene_variant,,ENST00000430407,;RCC1,downstream_gene_variant,,ENST00000419074,;RCC1,downstream_gene_variant,,ENST00000434290,;RCC1,downstream_gene_variant,,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,downstream_gene_variant,,ENST00000429051,;RCC1,non_coding_transcript_exon_variant,,ENST00000478232,;	1151	79	231	SUCCESS
PRDM16	63976	.	GRCh37	1	3342300	3342300	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	37	0	ENST00000270722.5:c.3095A>T	p.His1032Leu	p.H1032L	ENST00000270722		1032	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS41236.2	3095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCACGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000270722	.	13/17	.	.	.	.	.	.	.	.	COSM3984986	13/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.097)	.	tolerated(0.09)	1	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.His1031Leu,ENST00000441472,;PRDM16,missense_variant,p.His1032Leu,ENST00000514189,;PRDM16,missense_variant,p.His840Leu,ENST00000509860,;PRDM16,missense_variant,p.His1032Leu,ENST00000270722,;PRDM16,missense_variant,p.His1031Leu,ENST00000442529,;PRDM16,missense_variant,p.His1033Leu,ENST00000511072,;PRDM16,missense_variant,p.His1032Leu,ENST00000378398,;PRDM16,missense_variant,p.His1032Leu,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000378389,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;PRDM16,non_coding_transcript_exon_variant,,ENST00000606170,;	3144	37	104	SUCCESS
CHD5	26038	.	GRCh37	1	6181279	6181279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	90	132	1	ENST00000262450.3:c.4798G>T	p.Asp1600Tyr	p.D1600Y	ENST00000262450	NM_015557.2	1600	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS57.1	4798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCCAAGG	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583	.	.	ENSP00000262450	.	33/42	.	.	.	.	.	.	.	.	.	33/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious_low_confidence(0)	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,missense_variant,p.Asp457Tyr,ENST00000378021,;CHD5,missense_variant,p.Asp1600Tyr,ENST00000262450,;CHD5,missense_variant,p.Trp1172Cys,ENST00000496404,;CHD5,missense_variant,p.Asp983Tyr,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,downstream_gene_variant,,ENST00000491020,;	4898	133	303	SUCCESS
CTNNBL1	56259	.	GRCh37	20	36405727	36405727	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	53	110	0	ENST00000361383.6:c.751-18del		p.*251*	ENST00000361383	NM_030877.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13298.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTCATTTCTC	NONE	.	.	.	.	.	ENSP00000355050	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361383	Transcript	.	.	ENSG00000132792	15879	2	.	MODIFIER	7/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CTBL1_HUMAN	CTNNBL1	HGNC	B4DE16_HUMAN,A2A2P1_HUMAN	.	UPI0000061E09	deletion	CTNNBL1,5_prime_UTR_variant,,ENST00000373469,;CTNNBL1,intron_variant,,ENST00000405275,;CTNNBL1,intron_variant,,ENST00000361383,;CTNNBL1,intron_variant,,ENST00000373473,;CTNNBL1,intron_variant,,ENST00000473857,;	.	110	187	SUCCESS
PLCG1	5335	.	GRCh37	20	39792450	39792451	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	274	124	61	0	ENST00000373271.1:c.988dup	p.Trp330LeufsTer18	p.W330Lfs*18	ENST00000373271	NM_182811.1	329	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13313.1	987-988	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTACTGGAT	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,Gene3D:3.20.20.190,Pfam_domain:PF00388,PIRSF_domain:PIRSF000952,SMART_domains:SM00148,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000362369	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000373272	Transcript	.	.	ENSG00000124181	9065	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCG1_HUMAN	PLCG1	HGNC	.	.	UPI00001B94DD	insertion	PLCG1,frameshift_variant,p.Trp330LeufsTer18,ENST00000373272,;PLCG1,frameshift_variant,p.Trp330LeufsTer18,ENST00000244007,;PLCG1,frameshift_variant,p.Trp330LeufsTer18,ENST00000373271,;PLCG1,upstream_gene_variant,,ENST00000473632,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,non_coding_transcript_exon_variant,,ENST00000470528,;PLCG1,non_coding_transcript_exon_variant,,ENST00000492148,;PLCG1,downstream_gene_variant,,ENST00000490253,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,upstream_gene_variant,,ENST00000477870,;	1392-1393	61	398	SUCCESS
ADRA1D	146	.	GRCh37	20	4202228	4202228	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371559421	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	90	45	0	ENST00000379453.4:c.1661C>A	p.Ala554Asp	p.A554D	ENST00000379453	NM_000678.3	554	gCc/gAc	0	C:0	.	.	.	.	T	A/D	protein_coding	YES	CCDS13079.1	1661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGCGCCC	NONE	byCluster	.	Prints_domain:PR00240	.	C:0.0001	ENSP00000368766	.	2/2	.	.	.	.	.	.	.	.	rs371559421	2/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated_low_confidence(0.09)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.Ala554Asp,ENST00000379453,;	1778	45	188	SUCCESS
ADRA1D	146	.	GRCh37	20	4202229	4202229	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1195126550	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	89	44	0	ENST00000379453.4:c.1660G>A	p.Ala554Thr	p.A554T	ENST00000379453	NM_000678.3	554	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13079.1	1660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCGCCCT	NONE	.	.	Prints_domain:PR00240	.	.	ENSP00000368766	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.63)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.Ala554Thr,ENST00000379453,;	1777	44	187	SUCCESS
BMP7	655	.	GRCh37	20	55840845	55840845	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755895161	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	60	55	0	ENST00000395863.3:c.334A>T	p.Ser112Cys	p.S112C	ENST00000395863	NM_001719.2	112	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS13455.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACTGAAGA	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00688	.	.	ENSP00000379204	.	1/7	.	.	.	.	.	.	.	.	rs755895161	1/7	PASS	ENST00000395863	Transcript	.	.	ENSG00000101144	1074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	deleterious(0.01)	.	BMP7_HUMAN	BMP7	HGNC	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN	.	UPI00000349AD	SNV	BMP7,missense_variant,p.Ser112Cys,ENST00000395863,;BMP7,missense_variant,p.Ser112Cys,ENST00000450594,;BMP7,missense_variant,p.Ser112Cys,ENST00000395864,;BMP7,upstream_gene_variant,,ENST00000433911,;RP4-813D12.3,upstream_gene_variant,,ENST00000412321,;RP4-813D12.3,upstream_gene_variant,,ENST00000426580,;	840	55	131	SUCCESS
ZNF831	128611	.	GRCh37	20	57766858	57766858	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	31	0	ENST00000371030.2:c.784A>C	p.Arg262=	p.R262=	ENST00000371030	NM_178457.2	262	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS42894.1	784	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGAGGACC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	784	31	111	SUCCESS
ANKRD30BP2	149992	.	GRCh37	21	14417510	14417510	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	362	51	1097	1	ENST00000471407.1:n.196C>A		p.*66*	ENST00000471407				0	.	.	.	.	.	A	.	snRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCATAAG	NONE	.	2394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000384369	Transcript	.	.	ENSG00000207097	47577	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RNU6-614P	HGNC	.	.	.	SNV	RNU6-614P,upstream_gene_variant,,ENST00000384369,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000507941,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000471407,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000447861,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000435744,;	.	1098	413	SUCCESS
POTEH	23784	.	GRCh37	22	16287729	16287729	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754645789	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	634	118	265	0	ENST00000343518.6:c.157G>T	p.Ala53Ser	p.A53S	ENST00000343518	NM_001136213.1	53	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46658.1	157	RADIA|VARSCANS	.	CATAGCAGAAT	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	1/11	.	.	.	.	.	.	.	.	rs754645789	1/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Ala53Ser,ENST00000343518,;POTEH,upstream_gene_variant,,ENST00000452800,;	209	265	753	SUCCESS
LRP1B	53353	.	GRCh37	2	141250227	141250227	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	105	0	ENST00000389484.3:c.9070G>A	p.Glu3024Lys	p.E3024K	ENST00000389484	NM_018557.2	3024	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2182.1	9070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTCATGAT	NONE	.	.	Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	57/91	.	.	.	.	.	.	.	.	.	57/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Glu3024Lys,ENST00000389484,;	10042	105	55	SUCCESS
FAM124B	79843	.	GRCh37	2	225266346	225266346	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs901948091	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	49	58	0	ENST00000409685.3:c.140G>C	p.Arg47Pro	p.R47P	ENST00000409685	NM_001122779.1	47	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS46527.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCGTTCA	NONE	.	.	hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715,Pfam_domain:PF15067	.	.	ENSP00000386895	.	1/2	.	.	.	.	.	.	.	.	COSM1482806,COSM1482805	1/2	PASS	ENST00000409685	Transcript	.	.	ENSG00000124019	26224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.935)	.	deleterious(0)	1,1	F124B_HUMAN	FAM124B	HGNC	.	.	UPI00002096DA	SNV	FAM124B,missense_variant,p.Arg47Pro,ENST00000409685,;FAM124B,missense_variant,p.Arg47Pro,ENST00000389874,;FAM124B,missense_variant,p.Arg47Pro,ENST00000243806,;	406	58	60	SUCCESS
OTOF	9381	.	GRCh37	2	26725219	26725219	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	19	23	0	ENST00000272371.2:c.659C>A	p.Ser220Ter	p.S220*	ENST00000272371	NM_194248.2	220	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS1725.1	659	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGAGTCG	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32	.	.	ENSP00000272371	.	7/47	.	.	.	.	.	.	.	.	.	7/47	PASS	ENST00000272371	Transcript	.	.	ENSG00000115155	8515	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTOF_HUMAN	OTOF	HGNC	.	.	UPI000013D94D	SNV	OTOF,stop_gained,p.Ser220Ter,ENST00000403946,;OTOF,stop_gained,p.Ser220Ter,ENST00000272371,;	786	23	142	SUCCESS
FOSL2	2355	.	GRCh37	2	28635279	28635279	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	11	0	ENST00000264716.4:c.945A>G	p.Ser315=	p.S315=	ENST00000264716	NM_005253.3	315	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1766.1	945	RADIA|VARSCANS	.	TCATCAGACTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23351:SF25,hmmpanther:PTHR23351	.	.	ENSP00000264716	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000264716	Transcript	.	.	ENSG00000075426	3798	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOSL2_HUMAN	FOSL2	HGNC	C9JCN8_HUMAN	.	UPI000004F8AB	SNV	FOSL2,synonymous_variant,p.%3D,ENST00000264716,;FOSL2,synonymous_variant,p.%3D,ENST00000379619,;FOSL2,synonymous_variant,p.%3D,ENST00000545753,;FOSL2,downstream_gene_variant,,ENST00000436647,;FOSL2,downstream_gene_variant,,ENST00000460736,;	1808	11	36	SUCCESS
TRMT61B	55006	.	GRCh37	2	29092901	29092901	+	synonymous_variant	Silent	SNP	A	A	G	rs889148463	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	138	71	0	ENST00000306108.5:c.243T>C	p.Cys81=	p.C81=	ENST00000306108	NM_017910.3	81	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS1768.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGACATCC	NONE	.	.	.	.	.	ENSP00000302801	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000306108	Transcript	.	.	ENSG00000171103	26070	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR61B_HUMAN	TRMT61B	HGNC	.	.	UPI000006D28C	SNV	TRMT61B,synonymous_variant,p.%3D,ENST00000306108,;TRMT61B,synonymous_variant,p.%3D,ENST00000439947,;	267	71	275	SUCCESS
LRPPRC	10128	.	GRCh37	2	44201378	44201378	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	497	24	360	1	ENST00000260665.7:c.1066C>T	p.Gln356Ter	p.Q356*	ENST00000260665	NM_133259.3	356	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS33189.1	1066	MUTECT|MUSE	.	AATTTGCAACG	NONE	.	.	hmmpanther:PTHR24015:SF0,hmmpanther:PTHR24015	.	.	ENSP00000260665	.	9/38	.	.	.	.	.	.	.	.	.	9/38	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,stop_gained,p.Gln356Ter,ENST00000260665,;LRPPRC,stop_gained,p.Gln330Ter,ENST00000447246,;LRPPRC,stop_gained,p.Gln356Ter,ENST00000409659,;LRPPRC,stop_gained,p.Gln356Ter,ENST00000409946,;	1124	361	522	SUCCESS
ADAM17	6868	.	GRCh37	2	9667941	9667941	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775422299	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	141	0	ENST00000310823.3:c.593G>A	p.Gly198Glu	p.G198E	ENST00000310823	NM_003183.4	198	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS1665.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACCCTTTT	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121	.	.	ENSP00000309968	.	5/19	.	.	.	.	.	.	.	.	rs775422299	5/19	PASS	ENST00000310823	Transcript	.	.	ENSG00000151694	195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.72)	.	ADA17_HUMAN	ADAM17	HGNC	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN	.	UPI00001254D4	SNV	ADAM17,missense_variant,p.Gly198Glu,ENST00000497134,;ADAM17,missense_variant,p.Gly198Glu,ENST00000310823,;snoU13,downstream_gene_variant,,ENST00000459017,;ADAM17,non_coding_transcript_exon_variant,,ENST00000478059,;	776	141	82	SUCCESS
KY	339855	.	GRCh37	3	134369796	134369796	+	synonymous_variant	Silent	SNP	G	G	A	rs1313793591	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	72	118	0	ENST00000423778.2:c.7C>T	p.Leu3=	p.L3=	ENST00000423778	NM_178554.4	3	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46920.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGCTCCA	NONE	.	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31	.	.	ENSP00000397598	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000423778	Transcript	.	.	ENSG00000174611	26576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,synonymous_variant,p.%3D,ENST00000503669,;KY,synonymous_variant,p.%3D,ENST00000423778,;KY,synonymous_variant,p.%3D,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;	69	118	281	SUCCESS
PLS1	5357	.	GRCh37	3	142405170	142405170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	63	0	ENST00000337777.3:c.933A>T	p.Lys311Asn	p.K311N	ENST00000337777	NM_002670.2	311	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS3125.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAAAGGTGG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR19961:SF27,hmmpanther:PTHR19961,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000336831	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000337777	Transcript	.	.	ENSG00000120756	9090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.201)	.	tolerated(0.05)	.	PLSI_HUMAN	PLS1	HGNC	C9JYI1_HUMAN,C9JVY2_HUMAN,C9JU08_HUMAN,C9JAM8_HUMAN,C9JAM3_HUMAN,C9J359_HUMAN,C9J0F3_HUMAN	.	UPI000013D59A	SNV	PLS1,missense_variant,p.Lys311Asn,ENST00000337777,;PLS1,missense_variant,p.Lys311Asn,ENST00000457734,;PLS1,missense_variant,p.Lys311Asn,ENST00000497002,;PLS1,missense_variant,p.Lys232Asn,ENST00000476044,;PLS1,upstream_gene_variant,,ENST00000483507,;	1146	63	91	SUCCESS
KCNAB1	7881	.	GRCh37	3	156009791	156009791	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	246	23	111	0	ENST00000490337.1:c.276-129614T>A		p.*92*	ENST00000490337	NM_172160.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3174.1	.	MUTECT|MUSE|VARSCANS	.	CAATGTGGTGA	NONE	.	.	.	.	.	ENSP00000419952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,missense_variant,p.Val32Glu,ENST00000389634,;KCNAB1,missense_variant,p.Val32Glu,ENST00000302490,;KCNAB1,intron_variant,,ENST00000471742,;KCNAB1,intron_variant,,ENST00000490337,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000389636,;KCNAB1,intron_variant,,ENST00000475456,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,missense_variant,p.Val28Glu,ENST00000489036,;KCNAB1,intron_variant,,ENST00000478609,;	.	111	270	SUCCESS
UBXN7	26043	.	GRCh37	3	196134222	196134222	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	90	136	0	ENST00000296328.4:c.116del	p.Asn39ThrfsTer87	p.N39Tfs*87	ENST00000296328	NM_015562.1	39	aAc/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS43191.1	116	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATTGTTGCAC	NONE	.	.	hmmpanther:PTHR23322:SF6,hmmpanther:PTHR23322,Gene3D:1.10.8.10,Pfam_domain:PF14555,PIRSF_domain:PIRSF037991,Superfamily_domains:SSF46934	.	.	ENSP00000296328	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000296328	Transcript	.	.	ENSG00000163960	29119	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBXN7_HUMAN	UBXN7	HGNC	F5GYB1_HUMAN,C9JD50_HUMAN,C9JAT7_HUMAN	.	UPI00001C1DEF	deletion	UBXN7,frameshift_variant,p.Asn39ThrfsTer65,ENST00000381887,;UBXN7,frameshift_variant,p.Asn6ThrfsTer?,ENST00000413584,;UBXN7,frameshift_variant,p.Asn39ThrfsTer87,ENST00000296328,;UBXN7,intron_variant,,ENST00000535858,;UBXN7,intron_variant,,ENST00000428095,;UBXN7,non_coding_transcript_exon_variant,,ENST00000493566,;UBXN7,intron_variant,,ENST00000429160,;	191	136	329	SUCCESS
GLB1	2720	.	GRCh37	3	33106973	33106973	+	synonymous_variant	Silent	SNP	C	C	T	rs928862880	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	200	279	0	ENST00000307363.5:c.534G>A	p.Gly178=	p.G178=	ENST00000307363	NM_000404.2	178	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43061.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCCCTCC	NONE	.	.	Prints_domain:PR00742,Superfamily_domains:SSF51445,PIRSF_domain:PIRSF006336,Pfam_domain:PF01301,Gene3D:3.20.20.80,PROSITE_patterns:PS01182,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF61	.	.	ENSP00000306920	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000307363	Transcript	.	.	ENSG00000170266	4298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BGAL_HUMAN	GLB1	HGNC	C9JF15_HUMAN,C9J539_HUMAN	.	UPI0000E5A543	SNV	GLB1,missense_variant,p.Ala108Thr,ENST00000307377,;GLB1,synonymous_variant,p.%3D,ENST00000399402,;GLB1,synonymous_variant,p.%3D,ENST00000440656,;GLB1,synonymous_variant,p.%3D,ENST00000307363,;GLB1,synonymous_variant,p.%3D,ENST00000445488,;GLB1,intron_variant,,ENST00000415454,;GLB1,downstream_gene_variant,,ENST00000450835,;GLB1,downstream_gene_variant,,ENST00000436768,;GLB1,non_coding_transcript_exon_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000498537,;GLB1,missense_variant,p.Ala78Thr,ENST00000446732,;GLB1,3_prime_UTR_variant,,ENST00000438227,;	679	279	377	SUCCESS
SLC22A14	9389	.	GRCh37	3	38347844	38347844	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	16	103	0	ENST00000273173.4:c.327C>T	p.His109=	p.H109=	ENST00000273173	NM_004803.3	109	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS2677.1	327	MUTECT|MUSE	.	CCCCACCTGTC	NONE	.	.	hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF48	.	.	ENSP00000273173	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000273173	Transcript	.	.	ENSG00000144671	8495	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22AE_HUMAN	SLC22A14	HGNC	F5H7H1_HUMAN	.	UPI00001AE9A8	SNV	SLC22A14,synonymous_variant,p.%3D,ENST00000273173,;SLC22A14,synonymous_variant,p.%3D,ENST00000448498,;SLC22A14,5_prime_UTR_variant,,ENST00000466887,;RNU6-235P,upstream_gene_variant,,ENST00000362644,;SLC22A14,non_coding_transcript_exon_variant,,ENST00000496724,;	418	103	236	SUCCESS
DENND6A	201627	.	GRCh37	3	57678508	57678508	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	24	12	0	ENST00000311128.5:c.237+1G>T		p.X79_splice	ENST00000311128	NM_152678.2	79		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33773.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCTCCA	NONE	.	.	.	.	.	ENSP00000311401	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311128	Transcript	.	.	ENSG00000174839	26635	.	.	HIGH	1/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN6A_HUMAN	DENND6A	HGNC	.	.	UPI00000744F6	SNV	DENND6A,splice_donor_variant,,ENST00000311128,;RP11-755B10.3,upstream_gene_variant,,ENST00000465933,;DENND6A,splice_donor_variant,,ENST00000464875,;	.	12	39	SUCCESS
DENND6A	201627	.	GRCh37	3	57678509	57678509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	26	13	0	ENST00000311128.5:c.237G>T	p.Glu79Asp	p.E79D	ENST00000311128	NM_152678.2	79	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS33773.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCTCCAC	NONE	.	.	hmmpanther:PTHR13677:SF1,hmmpanther:PTHR13677,Pfam_domain:PF09794	.	.	ENSP00000311401	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000311128	Transcript	.	.	ENSG00000174839	26635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious(0.01)	.	DEN6A_HUMAN	DENND6A	HGNC	.	.	UPI00000744F6	SNV	DENND6A,missense_variant,p.Glu79Asp,ENST00000311128,;RP11-755B10.3,upstream_gene_variant,,ENST00000465933,;DENND6A,splice_region_variant,,ENST00000464875,;	308	13	43	SUCCESS
CADPS	8618	.	GRCh37	3	62467411	62467411	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780894973	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	104	178	0	ENST00000383710.4:c.3160A>T	p.Ile1054Leu	p.I1054L	ENST00000383710	NM_003716.3	1054	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS46858.1	3160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATATAGCAG	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166,PROSITE_profiles:PS51258	.	.	ENSP00000373215	.	22/30	.	.	.	.	.	.	.	.	rs780894973	22/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(1)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Ile1054Leu,ENST00000383710,;CADPS,missense_variant,p.Ile41Leu,ENST00000473635,;CADPS,intron_variant,,ENST00000357948,;CADPS,intron_variant,,ENST00000283269,;CADPS,upstream_gene_variant,,ENST00000466621,;CADPS,intron_variant,,ENST00000463002,;CADPS,intron_variant,,ENST00000478570,;CADPS,upstream_gene_variant,,ENST00000478408,;	3510	179	190	SUCCESS
SRGAP3	9901	.	GRCh37	3	9055115	9055115	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	85	271	0	ENST00000383836.3:c.2024G>A	p.Cys675Tyr	p.C675Y	ENST00000383836	NM_014850.3	675	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS2572.1	2024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCAGGAC	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000373347	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000383836	Transcript	.	.	ENSG00000196220	19744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.07)	.	SRGP3_HUMAN	SRGAP3	HGNC	.	.	UPI0000074099	SNV	SRGAP3,missense_variant,p.Cys651Tyr,ENST00000360413,;SRGAP3,missense_variant,p.Cys675Tyr,ENST00000383836,;SRGAP3-AS1,upstream_gene_variant,,ENST00000414633,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000475560,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000518265,;SRGAP3,upstream_gene_variant,,ENST00000520860,;SRGAP3,downstream_gene_variant,,ENST00000433332,;	2452	271	248	SUCCESS
KIAA1109	84162	.	GRCh37	4	123268886	123268886	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	121	0	ENST00000264501.4:c.13081G>C	p.Ala4361Pro	p.A4361P	ENST00000264501		4361	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS43267.1	13081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	76/86	.	.	.	.	.	.	.	.	.	76/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.37)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Ala737Pro,ENST00000306802,;KIAA1109,missense_variant,p.Ala1030Pro,ENST00000438707,;KIAA1109,missense_variant,p.Ala4361Pro,ENST00000264501,;KIAA1109,missense_variant,p.Ala4361Pro,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000442707,;KIAA1109,upstream_gene_variant,,ENST00000491933,;	13454	121	54	SUCCESS
FAM198B	0	.	GRCh37	4	159048703	159048703	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	59	117	0	ENST00000393807.5:c.1440T>A	p.Ser480=	p.S480=	ENST00000393807	NM_001031700.2	480	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34087.1	1440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGAGACTG	NONE	.	.	hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF1,Pfam_domain:PF15051	.	.	ENSP00000377396	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393807	Transcript	.	.	ENSG00000164125	25312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F198B_HUMAN	FAM198B	HGNC	K7EK71_HUMAN	.	UPI00003672A2	SNV	FAM198B,synonymous_variant,p.%3D,ENST00000590648,;FAM198B,synonymous_variant,p.%3D,ENST00000393807,;FAM198B,synonymous_variant,p.%3D,ENST00000296530,;FAM198B,synonymous_variant,p.%3D,ENST00000592586,;FAM198B,synonymous_variant,p.%3D,ENST00000585682,;FAM198B,downstream_gene_variant,,ENST00000593260,;FAM198B,downstream_gene_variant,,ENST00000589306,;	1847	117	70	SUCCESS
WHSC1	0	.	GRCh37	4	1957858	1957858	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	80	70	0	ENST00000382895.3:c.2824G>T	p.Gly942Trp	p.G942W	ENST00000382895	NM_133330.2	942	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS33940.1	2824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGGGGAC	NONE	.	.	PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Pfam_domain:PF00855,Gene3D:2.30.30.160,Superfamily_domains:SSF63748	.	.	ENSP00000372351	.	17/24	.	.	.	.	.	.	.	.	COSM3917612,COSM3917613	17/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,missense_variant,p.Gly942Trp,ENST00000508803,;WHSC1,missense_variant,p.Gly290Trp,ENST00000382888,;WHSC1,missense_variant,p.Gly942Trp,ENST00000382892,;WHSC1,missense_variant,p.Gly942Trp,ENST00000382895,;WHSC1,missense_variant,p.Gly942Trp,ENST00000382891,;WHSC1,missense_variant,p.Gly266Trp,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000503207,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000513726,;WHSC1,downstream_gene_variant,,ENST00000502425,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,non_coding_transcript_exon_variant,,ENST00000507094,;WHSC1,downstream_gene_variant,,ENST00000511904,;AL132868.1,downstream_gene_variant,,ENST00000327785,;	3255	70	155	SUCCESS
TLR1	7096	.	GRCh37	4	38799406	38799406	+	synonymous_variant	Silent	SNP	C	C	A	rs375416156	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	81	0	ENST00000308979.2:c.1047G>T	p.Pro349=	p.P349=	ENST00000308979	NM_003263.3	349	ccG/ccT	0	T:0	.	.	.	.	A	P	protein_coding	YES	CCDS33973.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACGGGCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,PIRSF_domain:PIRSF037595	.	T:0.0001	ENSP00000354932	.	4/4	.	.	.	.	.	.	.	.	rs375416156,COSM1539987	4/4	PASS	ENST00000308979	Transcript	1	.	ENSG00000174125	11847	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TLR1_HUMAN	TLR1	HGNC	Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN	.	UPI000013EDFA	SNV	TLR1,synonymous_variant,p.%3D,ENST00000308979,;TLR1,synonymous_variant,p.%3D,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,intron_variant,,ENST00000505744,;TLR1,downstream_gene_variant,,ENST00000508535,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;	1321	81	73	SUCCESS
YIPF7	285525	.	GRCh37	4	44631480	44631480	+	synonymous_variant	Silent	SNP	A	A	G	rs780560919	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	52	144	0	ENST00000332990.5:c.438T>C	p.Asn146=	p.N146=	ENST00000332990	NM_182592.2	146	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS54766.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCATTCAT	NONE	byFrequency	.	hmmpanther:PTHR21236:SF5,hmmpanther:PTHR21236,Pfam_domain:PF04893	.	.	ENSP00000332772	.	4/6	.	.	.	.	.	.	.	.	rs780560919	4/6	PASS	ENST00000332990	Transcript	.	.	ENSG00000177752	26825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF7_HUMAN	YIPF7	HGNC	.	.	UPI00015347BF	SNV	YIPF7,synonymous_variant,p.%3D,ENST00000415895,;YIPF7,synonymous_variant,p.%3D,ENST00000332990,;YIPF7,non_coding_transcript_exon_variant,,ENST00000510035,;YIPF7,non_coding_transcript_exon_variant,,ENST00000502794,;	455	144	91	SUCCESS
GABRA4	2557	.	GRCh37	4	46930408	46930408	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	57	171	0	ENST00000264318.3:c.1499C>A	p.Ser500Ter	p.S500*	ENST00000264318	NM_000809.3	500	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS3473.1	1499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTGACAAC	NONE	.	.	Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	.	.	ENSP00000264318	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000264318	Transcript	.	.	ENSG00000109158	4078	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA4_HUMAN	GABRA4	HGNC	.	.	UPI0000074200	SNV	GABRA4,stop_gained,p.Ser500Ter,ENST00000264318,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000508560,;	2482	171	88	SUCCESS
KIT	3815	.	GRCh37	4	55599301	55599301	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	159	0	ENST00000288135.5:c.2427T>A	p.Cys809Ter	p.C809*	ENST00000288135	NM_000222.2	809	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS3496.1	2427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTGATTT	BUFFER|p.F811F|c.2433T>C|4	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112	.	.	ENSP00000288135	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,stop_gained,p.Cys805Ter,ENST00000412167,;KIT,stop_gained,p.Cys809Ter,ENST00000288135,;KIT,non_coding_transcript_exon_variant,,ENST00000512959,;	2524	159	72	SUCCESS
SH3TC2	79628	.	GRCh37	5	148411195	148411195	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	121	96	0	ENST00000515425.1:c.1057G>T	p.Gly353Ter	p.G353*	ENST00000515425	NM_024577.3	353	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS4293.1	1057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCCAGGG	NONE	.	.	hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,stop_gained,p.Gly353Ter,ENST00000515425,;SH3TC2,stop_gained,p.Gly346Ter,ENST00000512049,;SH3TC2,stop_gained,p.Gly238Ter,ENST00000394358,;SH3TC2,5_prime_UTR_variant,,ENST00000538184,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000503071,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000513340,;SH3TC2,stop_gained,p.Gly353Ter,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,upstream_gene_variant,,ENST00000510779,;	1159	96	141	SUCCESS
RANBP17	64901	.	GRCh37	5	170610173	170610173	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs765324653	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	40	267	0	ENST00000523189.1:c.1868A>G	p.Tyr623Cys	p.Y623C	ENST00000523189	NM_022897.3	623	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34287.1	1868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTATATCC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	.	ENSP00000427975	.	17/28	.	.	.	.	.	.	.	.	rs765324653	17/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,missense_variant,p.Tyr623Cys,ENST00000523189,;RANBP17,splice_region_variant,,ENST00000524364,;RANBP17,intron_variant,,ENST00000520586,;RANBP17,intron_variant,,ENST00000521759,;RANBP17,intron_variant,,ENST00000523665,;RANBP17,splice_region_variant,,ENST00000519949,;RANBP17,splice_region_variant,,ENST00000389118,;RANBP17,splice_region_variant,,ENST00000519256,;RANBP17,splice_region_variant,,ENST00000522533,;RANBP17,splice_region_variant,,ENST00000522066,;RANBP17,splice_region_variant,,ENST00000520864,;	2032	267	49	SUCCESS
C5orf42	0	.	GRCh37	5	37186475	37186475	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373443151	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	389	124	199	0	ENST00000425232.2:c.4102G>T	p.Ala1368Ser	p.A1368S	ENST00000425232	NM_023073.3	1368	Gca/Tca	0	T:0	.	.	.	.	A	A/S	protein_coding	YES	CCDS34146.2	4102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGCTTTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	T:0.0001	ENSP00000389014	.	24/52	.	.	.	.	.	.	.	.	rs373443151	24/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,missense_variant,p.Ala249Ser,ENST00000274258,;C5orf42,missense_variant,p.Ala1368Ser,ENST00000508244,;C5orf42,missense_variant,p.Ala1368Ser,ENST00000425232,;C5orf42,missense_variant,p.Ala416Ser,ENST00000514429,;C5orf42,missense_variant,p.Ala373Ser,ENST00000509849,;	4333	199	514	SUCCESS
NUP155	9631	.	GRCh37	5	37341189	37341189	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	83	74	0	ENST00000231498.3:c.1246+3A>T		p.X416_splice	ENST00000231498	NM_153485.2	416		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3921.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTTACCTT	NONE	.	.	.	.	.	ENSP00000231498	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231498	Transcript	1	.	ENSG00000113569	8063	.	.	LOW	11/34	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NU155_HUMAN	NUP155	HGNC	B4DLT2_HUMAN,B3KMK3_HUMAN	.	UPI0000001C7F	SNV	NUP155,splice_region_variant,,ENST00000513532,;NUP155,splice_region_variant,,ENST00000381843,;NUP155,splice_region_variant,,ENST00000231498,;NUP155,downstream_gene_variant,,ENST00000507233,;	.	74	129	SUCCESS
C9	735	.	GRCh37	5	39306883	39306883	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1156696518	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	41	142	1	ENST00000263408.4:c.1252A>G	p.Ser418Gly	p.S418G	ENST00000263408	NM_001737.3	418	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS3929.1	1252	RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTGGTGA	NONE	.	.	SMART_domains:SM00457,Pfam_domain:PF01823,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF333,PROSITE_profiles:PS51412	.	.	ENSP00000263408	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000263408	Transcript	1	.	ENSG00000113600	1358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.216)	.	tolerated(0.3)	.	CO9_HUMAN	C9	HGNC	Q9UGI4_HUMAN	.	UPI0000001065	SNV	C9,missense_variant,p.Ser418Gly,ENST00000263408,;	1348	143	159	SUCCESS
ERBB2IP	0	.	GRCh37	5	65288707	65288707	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	68	0	ENST00000284037.5:c.161A>G	p.Asp54Gly	p.D54G	ENST00000284037	NM_001253697.1	54	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS58952.1	161	MUTECT|VARSCANS	.	TTTAGATGCTA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF421,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,SMART_domains:SM00364,Superfamily_domains:SSF52047	.	.	ENSP00000426632	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,missense_variant,p.Asp54Gly,ENST00000380935,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000511297,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000284037,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000508515,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000380943,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000380938,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000380936,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000506030,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000380939,;ERBB2IP,missense_variant,p.Asp54Gly,ENST00000416865,;	252	68	43	SUCCESS
ERAP2	64167	.	GRCh37	5	96219543	96219543	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	129	222	0	ENST00000437043.3:c.623T>C	p.Phe208Ser	p.F208S	ENST00000437043	NM_001130140.1	208	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS4086.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTTCCCTT	NONE	.	.	hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:0038696,Prints_domain:PR00756	.	.	ENSP00000400376	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000437043	Transcript	.	.	ENSG00000164308	29499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0)	.	ERAP2_HUMAN	ERAP2	HGNC	D6RGW0_HUMAN	.	UPI0000036336	SNV	ERAP2,missense_variant,p.Phe208Ser,ENST00000510373,;ERAP2,missense_variant,p.Phe208Ser,ENST00000379904,;ERAP2,missense_variant,p.Phe208Ser,ENST00000510309,;ERAP2,missense_variant,p.Phe208Ser,ENST00000437043,;ERAP2,downstream_gene_variant,,ENST00000507346,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,missense_variant,p.Phe208Ser,ENST00000513084,;	1334	222	152	SUCCESS
KIAA1244	0	.	GRCh37	6	138550956	138550956	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	158	267	0	ENST00000251691.4:c.387T>C	p.Asp129=	p.D129=	ENST00000251691	NM_020340.4	129	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS5189.2	387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGATCTGAA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,synonymous_variant,p.%3D,ENST00000251691,;	553	267	361	SUCCESS
ARID1B	57492	.	GRCh37	6	157502282	157502282	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	43	0	ENST00000346085.5:c.3315C>G	p.Val1105=	p.V1105=	ENST00000346085	NM_020732.3	1105	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS55072.1	3315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTCTGCGT	NONE	.	.	PROSITE_profiles:PS51011,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:1.10.150.60,Pfam_domain:PF01388,SMART_domains:SM01014,SMART_domains:SM00501,Superfamily_domains:SSF46774	.	.	ENSP00000344546	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000319584,;ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000400790,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000414678,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,non_coding_transcript_exon_variant,,ENST00000478761,;	3316	43	100	SUCCESS
OR2W1	26692	.	GRCh37	6	29012335	29012335	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	72	216	0	ENST00000377175.1:c.618T>A	p.Ile206=	p.I206=	ENST00000377175	NM_030903.3	206	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4656.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAATTAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF169,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366380	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377175	Transcript	.	.	ENSG00000204704	8281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2W1_HUMAN	OR2W1	HGNC	.	.	UPI000003FF8A	SNV	OR2W1,synonymous_variant,p.%3D,ENST00000377175,;	683	216	241	SUCCESS
PSMG4	389362	.	GRCh37	6	3264070	3264070	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	72	0	ENST00000438998.2:c.250+77T>G		p.*84*	ENST00000438998	NM_001128591.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47360.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTCGGAA	NONE	.	.	.	.	.	ENSP00000392353	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419065	Transcript	.	.	ENSG00000180822	21108	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMG4_HUMAN	PSMG4	HGNC	.	.	UPI00001D810B	SNV	PSMG4,3_prime_UTR_variant,,ENST00000473000,;PSMG4,intron_variant,,ENST00000454610,;PSMG4,intron_variant,,ENST00000451246,;PSMG4,intron_variant,,ENST00000438998,;PSMG4,intron_variant,,ENST00000419065,;PSMG4,intron_variant,,ENST00000380306,;PSMG4,intron_variant,,ENST00000380305,;PSMG4,intron_variant,,ENST00000324987,;PSMG4,intron_variant,,ENST00000509933,;	.	72	118	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42978962	42978962	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	101	78	0	ENST00000485511.1:c.1747A>C	p.Lys583Gln	p.K583Q	ENST00000485511	NM_001270476.1	583	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS4878.1	1747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCAAGGCA	NONE	.	.	hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257	.	.	ENSP00000417963	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated_low_confidence(0.09)	.	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,missense_variant,p.Lys477Gln,ENST00000461010,;PPP2R5D,missense_variant,p.Lys583Gln,ENST00000485511,;PPP2R5D,missense_variant,p.Lys551Gln,ENST00000394110,;PPP2R5D,missense_variant,p.Lys485Gln,ENST00000470467,;PPP2R5D,missense_variant,p.Lys575Gln,ENST00000472118,;PPP2R5D,downstream_gene_variant,,ENST00000486843,;KLHDC3,upstream_gene_variant,,ENST00000326974,;MEA1,downstream_gene_variant,,ENST00000244711,;KLHDC3,upstream_gene_variant,,ENST00000244670,;PPP2R5D,3_prime_UTR_variant,,ENST00000230402,;PPP2R5D,downstream_gene_variant,,ENST00000467447,;PPP2R5D,downstream_gene_variant,,ENST00000482315,;	1926	79	197	SUCCESS
NRCAM	4897	.	GRCh37	7	107807387	107807387	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	18	70	0	ENST00000379028.3:c.3445G>A	p.Asp1149Asn	p.D1149N	ENST00000379028		1149	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47686.1	3445	RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCTCTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10	.	.	ENSP00000368314	.	30/33	.	.	.	.	.	.	.	.	.	30/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.42)	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,missense_variant,p.Asp1149Asn,ENST00000379022,;NRCAM,missense_variant,p.Asp1149Asn,ENST00000379028,;NRCAM,missense_variant,p.Asp1149Asn,ENST00000425651,;NRCAM,intron_variant,,ENST00000351718,;NRCAM,intron_variant,,ENST00000445634,;NRCAM,intron_variant,,ENST00000413765,;NRCAM,intron_variant,,ENST00000379024,;NRCAM,intron_variant,,ENST00000465585,;NRCAM,intron_variant,,ENST00000415105,;	3916	70	169	SUCCESS
NRCAM	4897	.	GRCh37	7	107836240	107836240	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	153	192	0	ENST00000379028.3:c.1428T>C	p.Cys476=	p.C476=	ENST00000379028		476	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS47686.1	1428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCACAGTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000368314	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,synonymous_variant,p.%3D,ENST00000413765,;NRCAM,synonymous_variant,p.%3D,ENST00000379022,;NRCAM,synonymous_variant,p.%3D,ENST00000379024,;NRCAM,synonymous_variant,p.%3D,ENST00000351718,;NRCAM,synonymous_variant,p.%3D,ENST00000379028,;NRCAM,synonymous_variant,p.%3D,ENST00000425651,;NRCAM,downstream_gene_variant,,ENST00000417701,;	1899	192	309	SUCCESS
PNPLA8	50640	.	GRCh37	7	108155899	108155899	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768754573	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	81	1	ENST00000257694.8:c.37C>T	p.Leu13Phe	p.L13F	ENST00000257694	NM_001256007.1	13	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS34733.1	37	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAGGAGGTAAA	NONE	.	.	hmmpanther:PTHR24185	.	.	ENSP00000410804	.	4/12	.	.	.	.	.	.	.	.	rs768754573	4/12	PASS	ENST00000422087	Transcript	.	.	ENSG00000135241	28900	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.53)	.	PLPL8_HUMAN	PNPLA8	HGNC	C9JAX4_HUMAN,C9J9W9_HUMAN	.	UPI0000073D34	SNV	PNPLA8,missense_variant,p.Leu13Phe,ENST00000415498,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000257694,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000422087,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000427008,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000388728,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000426128,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000436062,;PNPLA8,splice_region_variant,,ENST00000453144,;PNPLA8,splice_region_variant,,ENST00000453085,;PNPLA8,intron_variant,,ENST00000483879,;PNPLA8,intron_variant,,ENST00000476592,;PNPLA8,intron_variant,,ENST00000489738,;RPL7P32,downstream_gene_variant,,ENST00000457119,;	444	82	81	SUCCESS
CFTR	1080	.	GRCh37	7	117292987	117292987	+	splice_donor_variant	Splice_Site	SNP	T	T	G	rs397508650	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	258	1	ENST00000003084.6:c.3963+2T>G		p.X1321_splice	ENST00000003084	NM_000492.3	1321		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5773.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	TGAGGTAAGGC	NONE	.	.	.	.	.	ENSP00000003084	.	.	.	.	.	.	.	.	.	.	rs397508650,CS034838	.	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	HIGH	24/26	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,splice_donor_variant,,ENST00000426809,;CFTR,splice_donor_variant,,ENST00000454343,;CFTR,splice_donor_variant,,ENST00000003084,;CFTR,splice_donor_variant,,ENST00000600166,;	.	260	116	SUCCESS
AASS	10157	.	GRCh37	7	121756964	121756964	+	synonymous_variant	Silent	SNP	G	G	C	rs1270710695	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	77	0	ENST00000393376.1:c.735C>G	p.Pro245=	p.P245=	ENST00000393376		245	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5783.1	735	MUTECT|MUSE|VARSCANS	.	TCATGGGGCTC	NONE	.	.	hmmpanther:PTHR11133:SF11,hmmpanther:PTHR11133,Pfam_domain:PF01262,SMART_domains:SM01002	.	.	ENSP00000377040	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000393376	Transcript	.	.	ENSG00000008311	17366	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AASS_HUMAN	AASS	HGNC	A4D0W4_HUMAN	.	UPI000004A105	SNV	AASS,synonymous_variant,p.%3D,ENST00000417368,;AASS,synonymous_variant,p.%3D,ENST00000393376,;AASS,intron_variant,,ENST00000473553,;AASS,synonymous_variant,p.%3D,ENST00000358954,;AASS,synonymous_variant,p.%3D,ENST00000431170,;	831	77	92	SUCCESS
DPP6	1804	.	GRCh37	7	154379566	154379566	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	127	89	0	ENST00000377770.3:c.628-49965G>A		p.*210*	ENST00000377770				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGGGGACC	NONE	.	.	.	.	.	ENSP00000367001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODIFIER	5/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,synonymous_variant,p.%3D,ENST00000406326,;DPP6,intron_variant,,ENST00000427557,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000332007,;DPP6,intron_variant,,ENST00000404039,;DPP6,downstream_gene_variant,,ENST00000496611,;	.	89	260	SUCCESS
NSUN5	55695	.	GRCh37	7	72722781	72722781	+	synonymous_variant	Silent	SNP	G	G	A	rs1554542424	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	129	89	0	ENST00000252594.6:c.7C>T	p.Leu3=	p.L3=	ENST00000252594		3	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55119.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22807:SF4,hmmpanther:PTHR22807	.	.	ENSP00000309126	.	1/10	.	.	.	.	.	.	.	.	COSM3882212,COSM3882211	1/10	PASS	ENST00000310326	Transcript	.	.	ENSG00000130305	16385	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	NSUN5_HUMAN	NSUN5	HGNC	.	.	UPI00017A7817	SNV	NSUN5,synonymous_variant,p.%3D,ENST00000438747,;NSUN5,synonymous_variant,p.%3D,ENST00000428206,;NSUN5,synonymous_variant,p.%3D,ENST00000310326,;NSUN5,synonymous_variant,p.%3D,ENST00000252594,;TRIM50,downstream_gene_variant,,ENST00000333149,;TRIM50,downstream_gene_variant,,ENST00000453152,;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,upstream_gene_variant,,ENST00000455763,;TRIM50,downstream_gene_variant,,ENST00000488217,;NSUN5,upstream_gene_variant,,ENST00000478977,;	33	89	244	SUCCESS
SHFM1	0	.	GRCh37	7	96324155	96324155	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	120	0	ENST00000248566.2:c.125A>C	p.Asn42Thr	p.N42T	ENST00000248566	NM_006304.1	42	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS5646.1	125	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATTATCC	NONE	.	.	Pfam_domain:PF05160,hmmpanther:PTHR16771:SF0,hmmpanther:PTHR16771,Low_complexity_(Seg):seg	.	.	ENSP00000248566	.	2/3	.	.	.	.	.	.	.	.	COSM247310	2/3	PASS	ENST00000248566	Transcript	.	.	ENSG00000127922	10845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	DSS1_HUMAN	SHFM1	HGNC	Q6IBB7_HUMAN	.	UPI000000162C	SNV	SHFM1,missense_variant,p.Asn42Thr,ENST00000444799,;SHFM1,missense_variant,p.Asn42Thr,ENST00000248566,;SHFM1,missense_variant,p.Asn42Thr,ENST00000417009,;SHFM1,missense_variant,p.Asn42Thr,ENST00000413065,;SHFM1,non_coding_transcript_exon_variant,,ENST00000466986,;SHFM1,intron_variant,,ENST00000488005,;SHFM1,missense_variant,p.Asn42Thr,ENST00000449279,;SHFM1,non_coding_transcript_exon_variant,,ENST00000482389,;	253	120	121	SUCCESS
TACC1	6867	.	GRCh37	8	38678084	38678084	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765440484	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	16	0	ENST00000317827.4:c.1322G>C	p.Cys441Ser	p.C441S	ENST00000317827	NM_006283.2	441	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS6109.1	1322	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTGTTCTC	NONE	.	.	hmmpanther:PTHR13924	.	.	ENSP00000321703	.	3/13	.	.	.	.	.	.	.	.	rs765440484	3/13	PASS	ENST00000317827	Transcript	1	.	ENSG00000147526	11522	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.21)	.	TACC1_HUMAN	TACC1	HGNC	E5RJU4_HUMAN,E5RJG6_HUMAN,E5RIP3_HUMAN,E5RI10_HUMAN	.	UPI000013DACE	SNV	TACC1,missense_variant,p.Cys246Ser,ENST00000520615,;TACC1,missense_variant,p.Cys246Ser,ENST00000520973,;TACC1,missense_variant,p.Cys79Ser,ENST00000518809,;TACC1,missense_variant,p.Cys441Ser,ENST00000317827,;TACC1,missense_variant,p.Cys413Ser,ENST00000522904,;TACC1,missense_variant,p.Cys441Ser,ENST00000379931,;TACC1,missense_variant,p.Cys457Ser,ENST00000443286,;TACC1,missense_variant,p.Cys246Ser,ENST00000519416,;TACC1,missense_variant,p.Cys405Ser,ENST00000520340,;TACC1,missense_variant,p.Cys396Ser,ENST00000518415,;TACC1,missense_variant,p.Cys216Ser,ENST00000521866,;TACC1,5_prime_UTR_variant,,ENST00000520611,;TACC1,intron_variant,,ENST00000521050,;TACC1,intron_variant,,ENST00000348567,;TACC1,intron_variant,,ENST00000521642,;TACC1,intron_variant,,ENST00000330691,;TACC1,intron_variant,,ENST00000276520,;TACC1,downstream_gene_variant,,ENST00000521528,;TACC1,downstream_gene_variant,,ENST00000524193,;TACC1,downstream_gene_variant,,ENST00000524354,;TACC1,downstream_gene_variant,,ENST00000521935,;TACC1,intron_variant,,ENST00000522752,;TACC1,intron_variant,,ENST00000523239,;TACC1,downstream_gene_variant,,ENST00000522544,;TACC1,upstream_gene_variant,,ENST00000517336,;TACC1,downstream_gene_variant,,ENST00000523834,;TACC1,non_coding_transcript_exon_variant,,ENST00000522955,;TACC1,downstream_gene_variant,,ENST00000521154,;	1701	16	54	SUCCESS
ADAM18	8749	.	GRCh37	8	39537556	39537556	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	63	126	1	ENST00000265707.5:c.1632G>T	p.Lys544Asn	p.K544N	ENST00000265707	NM_014237.2	544	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS6113.1	1632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGGATGT	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000265707	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.23)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Lys544Asn,ENST00000265707,;ADAM18,missense_variant,p.Lys520Asn,ENST00000379866,;ADAM18,splice_region_variant,,ENST00000541111,;ADAM18,splice_region_variant,,ENST00000520087,;	1677	127	142	SUCCESS
ZMAT4	79698	.	GRCh37	8	40683185	40683185	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1273063811	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	32	0	ENST00000297737.6:c.11C>T	p.Ser4Phe	p.S4F	ENST00000297737	NM_024645.2	4	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS34885.1	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCGGAGGAC	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19	.	.	ENSP00000297737	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	deleterious_low_confidence(0.02)	.	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,missense_variant,p.Ser4Phe,ENST00000297737,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000519406,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000315769,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000523823,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000523542,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000523188,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000522623,;	158	32	77	SUCCESS
OPRK1	4986	.	GRCh37	8	54147486	54147486	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746292250	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	59	89	0	ENST00000265572.3:c.443C>G	p.Thr148Ser	p.T148S	ENST00000265572	NM_000912.3	148	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS6152.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGTGAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00384,Prints_domain:PR00237	.	.	ENSP00000265572	.	3/4	.	.	.	.	.	.	.	.	rs746292250	3/4	PASS	ENST00000265572	Transcript	.	.	ENSG00000082556	8154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	OPRK_HUMAN	OPRK1	HGNC	.	.	UPI000011D794	SNV	OPRK1,missense_variant,p.Thr59Ser,ENST00000524278,;OPRK1,missense_variant,p.Thr148Ser,ENST00000520287,;OPRK1,missense_variant,p.Thr148Ser,ENST00000265572,;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;	741	89	208	SUCCESS
PREX2	80243	.	GRCh37	8	68934295	68934295	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	65	0	ENST00000288368.4:c.361G>C	p.Glu121Gln	p.E121Q	ENST00000288368	NM_024870.2	121	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS6201.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGAATAT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000288368	.	4/40	.	.	.	.	.	.	.	.	.	4/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Glu121Gln,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	638	65	38	SUCCESS
SLC7A13	157724	.	GRCh37	8	87226761	87226761	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1047091117	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	53	0	ENST00000297524.3:c.1294G>A	p.Gly432Arg	p.G432R	ENST00000297524	NM_138817.2	432	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34917.1	1294	RADIA|VARSCANS	.	TAATCCGCTGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,PIRSF_domain:PIRSF006060	.	.	ENSP00000297524	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000297524	Transcript	.	.	ENSG00000164893	23092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	S7A13_HUMAN	SLC7A13	HGNC	.	.	UPI000006DF39	SNV	SLC7A13,missense_variant,p.Gly432Arg,ENST00000297524,;SLC7A13,3_prime_UTR_variant,,ENST00000419776,;CTD-3118D11.3,downstream_gene_variant,,ENST00000523112,;SLC7A13,downstream_gene_variant,,ENST00000520624,;	1398	53	32	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88886016	88886016	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	259	248	180	0	ENST00000319675.3:c.184C>T	p.His62Tyr	p.H62Y	ENST00000319675	NM_152418.3	62	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS6245.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATGAATCT	NONE	.	.	hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.1)	.	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	SNV	DCAF4L2,missense_variant,p.His62Tyr,ENST00000319675,;	281	180	507	SUCCESS
OR13D1	286365	.	GRCh37	9	107457698	107457698	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	110	0	ENST00000318763.5:c.996T>A	p.Ala332=	p.A332=	ENST00000318763	NM_001004484.1	332	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS35094.1	996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGTAAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF129,hmmpanther:PTHR26453	.	.	ENSP00000317357	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318763	Transcript	.	.	ENSG00000179055	14695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O13D1_HUMAN	OR13D1	HGNC	.	.	UPI0000061E68	SNV	OR13D1,synonymous_variant,p.%3D,ENST00000318763,;	1039	110	123	SUCCESS
ZNF462	58499	.	GRCh37	9	109687219	109687219	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	31	49	0	ENST00000277225.5:c.1026T>G	p.Ser342=	p.S342=	ENST00000277225		342	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS35096.1	1026	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCTTACCC	BUFFER|p.S339L|c.1016C>T|3	.	.	.	.	.	ENSP00000277225	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,synonymous_variant,p.%3D,ENST00000277225,;ZNF462,synonymous_variant,p.%3D,ENST00000457913,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000441147,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000480607,;	1315	49	183	SUCCESS
CRB2	286204	.	GRCh37	9	126134509	126134509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	94	80	1	ENST00000373631.3:c.2490C>A	p.His830Gln	p.H830Q	ENST00000373631	NM_173689.5	830	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS6852.2	2490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACTGTAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24043:SF1,hmmpanther:PTHR24043,Gene3D:2gy5A03,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF49899	.	.	ENSP00000362734	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000373631	Transcript	.	.	ENSG00000148204	18688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	tolerated(0.11)	.	CRUM2_HUMAN	CRB2	HGNC	.	.	UPI000022D9DE	SNV	CRB2,missense_variant,p.His498Gln,ENST00000373629,;CRB2,missense_variant,p.His830Gln,ENST00000373631,;CRB2,missense_variant,p.His830Gln,ENST00000359999,;CRB2,missense_variant,p.His498Gln,ENST00000460253,;	2491	81	222	SUCCESS
PKN3	29941	.	GRCh37	9	131476850	131476850	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	97	78	0	ENST00000291906.4:c.1491G>A	p.Leu497=	p.L497=	ENST00000291906	NM_013355.3	497	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6908.1	1491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGCCCAA	NONE	.	.	hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357	.	.	ENSP00000291906	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000291906	Transcript	.	.	ENSG00000160447	17999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKN3_HUMAN	PKN3	HGNC	Q05BU1_HUMAN	.	UPI000013E087	SNV	PKN3,synonymous_variant,p.%3D,ENST00000291906,;RN7SL560P,downstream_gene_variant,,ENST00000577943,;PKN3,intron_variant,,ENST00000483521,;PKN3,upstream_gene_variant,,ENST00000485301,;	1884	78	246	SUCCESS
LAMC3	10319	.	GRCh37	9	133948175	133948175	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	110	70	0	ENST00000361069.4:c.3370T>A	p.Ser1124Thr	p.S1124T	ENST00000361069	NM_006059.3	1124	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS6938.1	3370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTCCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240	.	.	ENSP00000354360	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.11)	.	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,missense_variant,p.Ser1124Thr,ENST00000361069,;LAMC3,intron_variant,,ENST00000480883,;	3503	70	236	SUCCESS
MORF4L2	9643	.	GRCh37	X	102931737	102931737	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	194	76	0	ENST00000360458.1:c.219G>T	p.Arg73Ser	p.R73S	ENST00000360458	NM_001142421.1	73	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS14512.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCCTCAC	NONE	.	.	hmmpanther:PTHR10880:SF25,hmmpanther:PTHR10880	.	.	ENSP00000416120	.	3/3	.	.	.	.	.	.	.	.	COSM403571	3/3	PASS	ENST00000423833	Transcript	.	.	ENSG00000123562	16849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.69)	1	MO4L2_HUMAN	MORF4L2	HGNC	Q5JXX6_HUMAN,Q5JXX4_HUMAN,Q5JXX3_HUMAN,Q5JXX2_HUMAN,Q5JXX1_HUMAN,B4DXQ8_HUMAN,B3KWX6_HUMAN	.	UPI000012F567	SNV	MORF4L2,missense_variant,p.Arg73Ser,ENST00000442614,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000418819,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000423833,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000434230,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000441076,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000422154,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000433176,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000451301,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000360458,;MORF4L2,downstream_gene_variant,,ENST00000422355,;MORF4L2,non_coding_transcript_exon_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000467755,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;	1445	76	204	SUCCESS
TLR7	51284	.	GRCh37	X	12904609	12904609	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1602439158	.	TCGA-CC-5264-01	TCGA-CC-5264-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	76	78	0	ENST00000380659.3:c.982A>G	p.Lys328Glu	p.K328E	ENST00000380659	NM_016562.3	328	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS14151.1	982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAAAGAA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00365,Gene3D:3.80.10.10,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	.	.	ENSP00000370034	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380659	Transcript	.	.	ENSG00000196664	15631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	tolerated(0.14)	.	TLR7_HUMAN	TLR7	HGNC	B2R9N9_HUMAN	.	UPI000004BAF6	SNV	TLR7,missense_variant,p.Lys328Glu,ENST00000380659,;	1121	78	88	SUCCESS
ZFP92	139735	.	GRCh37	X	152685756	152685756	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	263	57	0	ENST00000338647.5:c.231C>T	p.Ile77=	p.I77=	ENST00000338647	NM_001136273.1	77	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS59177.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCCCCAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF97	.	.	ENSP00000462054	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338647	Transcript	.	.	ENSG00000189420	12865	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP92_HUMAN	ZFP92	HGNC	.	.	UPI000052B478	SNV	ZFP92,synonymous_variant,p.%3D,ENST00000338647,;U82695.10,upstream_gene_variant,,ENST00000569962,;	232	57	277	SUCCESS
HEPH	9843	.	GRCh37	X	65393436	65393436	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs760410000	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	32	0	ENST00000343002.2:c.418C>G	p.Leu140Val	p.L140V	ENST00000343002		140	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS14384.3	580	MUTECT|VARSCANS	.	GTTCCCTATAC	NONE	.	.	Superfamily_domains:SSF49503,Gene3D:2.60.40.420,Pfam_domain:PF07732,hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127	.	.	ENSP00000430620	.	4/21	.	.	.	.	.	.	.	.	rs760410000	4/21	PASS	ENST00000519389	Transcript	.	.	ENSG00000089472	4866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.945)	.	deleterious(0.03)	.	HEPH_HUMAN	HEPH	HGNC	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN	.	UPI0001C06560	SNV	HEPH,missense_variant,p.Leu140Val,ENST00000425114,;HEPH,missense_variant,p.Leu140Val,ENST00000343002,;HEPH,missense_variant,p.Leu194Val,ENST00000519389,;HEPH,missense_variant,p.Leu143Val,ENST00000441993,;HEPH,missense_variant,p.Leu140Val,ENST00000458621,;HEPH,missense_variant,p.Leu143Val,ENST00000374727,;HEPH,missense_variant,p.Leu143Val,ENST00000419594,;HEPH,5_prime_UTR_variant,,ENST00000336279,;HEPH,downstream_gene_variant,,ENST00000429547,;	759	32	51	SUCCESS
SCD	6319	.	GRCh37	10	102107190	102107190	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	22	0	ENST00000370355.2:c.-72C>A		p.*24*	ENST00000370355	NM_005063.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7493.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCCTCCG	NONE	.	.	.	.	.	ENSP00000359380	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000370355	Transcript	.	.	ENSG00000099194	10571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOD_HUMAN	SCD	HGNC	.	.	UPI00001252D2	SNV	SCD,5_prime_UTR_variant,,ENST00000370355,;RP11-34D15.2,upstream_gene_variant,,ENST00000429420,;	310	22	28	SUCCESS
HMX3	340784	.	GRCh37	10	124896950	124896950	+	synonymous_variant	Silent	SNP	C	C	T	rs772496101	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	41	0	ENST00000357878.5:c.777C>T	p.Gly259=	p.G259=	ENST00000357878	NM_001105574.1	259	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41575.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCCTGGC	NONE	.	.	Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR24325,hmmpanther:PTHR24325:SF19,PROSITE_profiles:PS50071	.	.	ENSP00000350549	.	2/2	.	.	.	.	.	.	.	.	rs772496101	2/2	PASS	ENST00000357878	Transcript	.	.	ENSG00000188620	5019	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMX3_HUMAN	HMX3	HGNC	.	.	UPI000047C635	SNV	HMX3,synonymous_variant,p.%3D,ENST00000357878,;	866	41	77	SUCCESS
TTC40	0	.	GRCh37	10	134663787	134663787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	30	47	0	ENST00000368586.5:c.5913C>A	p.Asp1971Glu	p.D1971E	ENST00000368586	NM_001200049.2	1971	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS58101.1	5913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGTCAGC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	41/58	.	.	.	.	.	.	.	.	.	41/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	deleterious(0.01)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Asp132Glu,ENST00000263170,;TTC40,missense_variant,p.Asp1971Glu,ENST00000368586,;	6014	47	110	SUCCESS
WDFY4	57705	.	GRCh37	10	49982649	49982649	+	synonymous_variant	Silent	SNP	C	C	T	rs115706447	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	33	35	0	ENST00000325239.5:c.2700C>T	p.Pro900=	p.P900=	ENST00000325239	NM_020945.1	900	ccC/ccT	0	T:0.0253	T:0.0348	.	T:0.0058	.	T	P	protein_coding	YES	CCDS44385.1	2700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCCTCCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	T:0	T:0.0003	ENSP00000320563	T:0	13/61	.	.	.	.	.	.	.	.	rs115706447	13/61	common_in_exac	ENST00000325239	Transcript	.	T:0.0100	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000413659,;WDFY4,synonymous_variant,p.%3D,ENST00000325239,;	2727	35	58	SUCCESS
PCDH15	65217	.	GRCh37	10	56106175	56106177	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	CAT	CAT	.	.	.	.	.	.	.	.	.	.	.	.	.	92	62	101	0	ENST00000320301.6:c.542_544del	p.Asp181del	p.D181del	ENST00000320301	NM_033056.3	181	gATGga/gga	0	.	.	.	.	.	-	DG/G	protein_coding	YES	CCDS44404.1	542-544	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGGTCCATCATCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	6/34	.	.	.	.	.	.	.	.	.	6/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	deletion	PCDH15,inframe_deletion,p.Asp181del,ENST00000437009,;PCDH15,inframe_deletion,p.Asp159del,ENST00000395433,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395445,;PCDH15,inframe_deletion,p.Asp181del,ENST00000320301,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395432,;PCDH15,inframe_deletion,p.Asp181del,ENST00000373955,;PCDH15,inframe_deletion,p.Asp159del,ENST00000373957,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395440,;PCDH15,inframe_deletion,p.Asp181del,ENST00000361849,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395438,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395446,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395442,;PCDH15,inframe_deletion,p.Asp186del,ENST00000414778,;PCDH15,inframe_deletion,p.Asp181del,ENST00000373965,;PCDH15,inframe_deletion,p.Asp181del,ENST00000395430,;PCDH15,intron_variant,,ENST00000409834,;AC013737.1,downstream_gene_variant,,ENST00000583830,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,inframe_deletion,p.Asp181del,ENST00000448885,;PCDH15,inframe_deletion,p.Asp181del,ENST00000414367,;PCDH15,intron_variant,,ENST00000373956,;	937-939	101	154	SUCCESS
FAM13C	220965	.	GRCh37	10	61029860	61029860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	115	145	0	ENST00000373868.2:c.602C>A	p.Pro201Gln	p.P201Q	ENST00000373868	NM_198215.3	201	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS7255.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTGGTGAG	NONE	.	.	hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.02)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,missense_variant,p.Pro201Gln,ENST00000419214,;FAM13C,missense_variant,p.Pro201Gln,ENST00000422313,;FAM13C,missense_variant,p.Pro118Gln,ENST00000468840,;FAM13C,missense_variant,p.Pro201Gln,ENST00000373868,;FAM13C,missense_variant,p.Pro222Gln,ENST00000277705,;FAM13C,missense_variant,p.Pro222Gln,ENST00000442566,;FAM13C,missense_variant,p.Pro201Gln,ENST00000435852,;FAM13C,missense_variant,p.Pro118Gln,ENST00000373867,;FAM13C,upstream_gene_variant,,ENST00000468696,;FAM13C,non_coding_transcript_exon_variant,,ENST00000477101,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507568,;	690	145	228	SUCCESS
USP54	159195	.	GRCh37	10	75277370	75277370	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	128	156	0	ENST00000339859.4:c.2814A>G	p.Pro938=	p.P938=	ENST00000339859		938	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7329.2	2814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTGGAGA	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5,Low_complexity_(Seg):seg	.	.	ENSP00000345216	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000339859	Transcript	.	.	ENSG00000166348	23513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP54_HUMAN	USP54	HGNC	.	.	UPI0000DFF136	SNV	USP54,synonymous_variant,p.%3D,ENST00000428547,;USP54,synonymous_variant,p.%3D,ENST00000339859,;USP54,synonymous_variant,p.%3D,ENST00000408019,;USP54,synonymous_variant,p.%3D,ENST00000422491,;USP54,synonymous_variant,p.%3D,ENST00000394811,;RP11-137L10.6,intron_variant,,ENST00000600206,;RP11-137L10.6,intron_variant,,ENST00000597958,;RP11-137L10.6,intron_variant,,ENST00000595069,;RP11-137L10.6,intron_variant,,ENST00000593790,;RP11-137L10.6,downstream_gene_variant,,ENST00000600607,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,3_prime_UTR_variant,,ENST00000418501,;USP54,3_prime_UTR_variant,,ENST00000466048,;USP54,3_prime_UTR_variant,,ENST00000424265,;USP54,downstream_gene_variant,,ENST00000498143,;	2915	156	242	SUCCESS
TUBB8	347688	.	GRCh37	10	94784	94784	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	37	0	ENST00000309812.4:c.126G>T	p.Leu42=	p.L42=	ENST00000309812	NM_177987.2	42	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7051.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCAGGTG	NONE	.	.	Prints_domain:PR01163,Superfamily_domains:SSF52490,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,synonymous_variant,p.%3D,ENST00000309812,;TUBB8,5_prime_UTR_variant,,ENST00000447903,;TUBB8,intron_variant,,ENST00000332708,;TUBB8,non_coding_transcript_exon_variant,,ENST00000413237,;TUBB8,non_coding_transcript_exon_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	189	37	59	SUCCESS
BBOX1	8424	.	GRCh37	11	27137031	27137031	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	40	0	ENST00000263182.3:c.566C>A	p.Ala189Glu	p.A189E	ENST00000263182	NM_003986.2	189	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS7862.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGCAAACA	NONE	.	.	hmmpanther:PTHR10696,hmmpanther:PTHR10696:SF20,Pfam_domain:PF02668,Gene3D:3.60.130.10,TIGRFAM_domain:TIGR02409,Superfamily_domains:SSF51197	.	.	ENSP00000263182	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000263182	Transcript	.	.	ENSG00000129151	964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.08)	.	BODG_HUMAN	BBOX1	HGNC	Q1KLS6_HUMAN,E9PKC9_HUMAN	.	UPI0000126A4C	SNV	BBOX1,missense_variant,p.Ala189Glu,ENST00000525090,;BBOX1,missense_variant,p.Ala189Glu,ENST00000529202,;BBOX1,missense_variant,p.Ala189Glu,ENST00000263182,;BBOX1,missense_variant,p.Ala189Glu,ENST00000528583,;RP11-1L12.3,intron_variant,,ENST00000526061,;RP11-1L12.3,intron_variant,,ENST00000525302,;RP11-1L12.3,intron_variant,,ENST00000530430,;BBOX1,non_coding_transcript_exon_variant,,ENST00000527505,;	934	40	60	SUCCESS
NLRP6	171389	.	GRCh37	11	281055	281055	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	39	0	ENST00000312165.5:c.1321G>C	p.Asp441His	p.D441H	ENST00000312165	NM_001276700.1	441	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS7693.1	1321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGACCTG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3,PROSITE_profiles:PS50837	.	.	ENSP00000309767	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000312165	Transcript	.	.	ENSG00000174885	22944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.422)	.	deleterious(0.01)	.	NALP6_HUMAN	NLRP6	HGNC	.	.	UPI00001AEFE1	SNV	NLRP6,missense_variant,p.Asp441His,ENST00000534750,;NLRP6,missense_variant,p.Asp441His,ENST00000312165,;NLRP6,downstream_gene_variant,,ENST00000527946,;	1321	39	62	SUCCESS
DNAJC4	3338	.	GRCh37	11	63999389	63999389	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	102	0	ENST00000321685.3:c.133G>T	p.Ala45Ser	p.A45S	ENST00000321685	NM_005528.3	45	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS41666.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGCCAGC	NONE	.	.	Prints_domain:PR00625,Superfamily_domains:SSF46565,SMART_domains:SM00271,Pfam_domain:PF00226,Gene3D:1.10.287.110,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF145,PROSITE_profiles:PS50076	.	.	ENSP00000396896	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000321685	Transcript	.	.	ENSG00000110011	5271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	DNJC4_HUMAN	DNAJC4	HGNC	.	.	UPI000000DA95	SNV	DNAJC4,missense_variant,p.Ala45Ser,ENST00000355040,;DNAJC4,missense_variant,p.Ala45Ser,ENST00000321685,;DNAJC4,missense_variant,p.Ala45Ser,ENST00000321460,;DNAJC4,synonymous_variant,p.%3D,ENST00000535246,;VEGFB,upstream_gene_variant,,ENST00000426086,;VEGFB,upstream_gene_variant,,ENST00000309422,;NUDT22,downstream_gene_variant,,ENST00000428347,;NUDT22,downstream_gene_variant,,ENST00000279206,;NUDT22,downstream_gene_variant,,ENST00000539325,;NUDT22,downstream_gene_variant,,ENST00000441250,;RP11-783K16.14,intron_variant,,ENST00000534988,;RP11-783K16.14,intron_variant,,ENST00000539963,;DNAJC4,3_prime_UTR_variant,,ENST00000536006,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000537109,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000543791,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000543685,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000542376,;DNAJC4,upstream_gene_variant,,ENST00000538961,;NUDT22,downstream_gene_variant,,ENST00000535000,;NUDT22,downstream_gene_variant,,ENST00000422364,;NUDT22,downstream_gene_variant,,ENST00000534929,;NUDT22,downstream_gene_variant,,ENST00000537094,;NUDT22,downstream_gene_variant,,ENST00000545184,;DNAJC4,upstream_gene_variant,,ENST00000540945,;NUDT22,downstream_gene_variant,,ENST00000543501,;NUDT22,downstream_gene_variant,,ENST00000543358,;NUDT22,downstream_gene_variant,,ENST00000537707,;	598	102	118	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65350204	65350219	+	frameshift_variant	Frame_Shift_Del	DEL	ACTGAAGATAGAAGAT	ACTGAAGATAGAAGAT	-	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	ACTGAAGATAGAAGAT	ACTGAAGATAGAAGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	33	0	ENST00000309295.4:c.2063_2078del	p.Leu688GlnfsTer32	p.L688Qfs*32	ENST00000309295	NM_001099409.1	687	ccACTGAAGATAGAAGAT/cc	0	.	.	.	.	.	-	PLKIED/X	protein_coding	YES	CCDS44649.1	2061-2076	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGCCACTGAAGATAGAAGATACAAT	NONE	.	.	hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069	.	.	ENSP00000312671	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	deletion	EHBP1L1,frameshift_variant,p.Leu688GlnfsTer32,ENST00000309295,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;	2326-2341	33	50	SUCCESS
EED	8726	.	GRCh37	11	85956252	85956252	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs201659439	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	53	0	ENST00000263360.6:c.-20C>G		p.*7*	ENST00000263360	NM_003797.3			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS8273.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTGGAG	NONE	byCluster|by1000G	.	.	T:0.001	.	ENSP00000263360	T:0	1/12	.	.	.	.	.	.	.	.	rs201659439	1/12	PASS	ENST00000263360	Transcript	.	T:0.0002	ENSG00000074266	3188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	EED_HUMAN	EED	HGNC	E9PMU3_HUMAN	.	UPI00000E88CF	SNV	EED,5_prime_UTR_variant,,ENST00000263360,;EED,5_prime_UTR_variant,,ENST00000327320,;EED,5_prime_UTR_variant,,ENST00000528180,;EED,upstream_gene_variant,,ENST00000534595,;EED,upstream_gene_variant,,ENST00000351625,;EED,upstream_gene_variant,,ENST00000525244,;	667	53	49	SUCCESS
TRIM66	9866	.	GRCh37	11	8662439	8662439	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	44	0	ENST00000299550.6:c.1048C>A	p.Pro350Thr	p.P350T	ENST00000299550	NM_014818.1	350	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	.	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCTGCC	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121	.	.	ENSP00000384876	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.09)	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Pro348Thr,ENST00000402157,;TRIM66,missense_variant,p.Pro350Thr,ENST00000299550,;TRIM66,downstream_gene_variant,,ENST00000529057,;TRIM66,downstream_gene_variant,,ENST00000531498,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	1483	44	69	SUCCESS
EFCAB4B	0	.	GRCh37	12	3736844	3736844	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1401873646	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	47	0	ENST00000440314.2:c.1764T>G	p.Asn588Lys	p.N588K	ENST00000440314	NM_001144958.1	588	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS44803.1	1764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATTCAA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00177,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000409382	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000440314	Transcript	.	.	ENSG00000130038	28657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	EFC4B_HUMAN	EFCAB4B	HGNC	.	.	UPI00017A8807	SNV	EFCAB4B,missense_variant,p.Asn588Lys,ENST00000440314,;EFCAB4B,3_prime_UTR_variant,,ENST00000333750,;	2238	47	56	SUCCESS
CCND2	894	.	GRCh37	12	4383263	4383263	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	36	0	ENST00000261254.3:c.57C>A	p.Asn19Lys	p.N19K	ENST00000261254	NM_001759.3	19	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS8524.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAACCTGCT	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177:SF66,hmmpanther:PTHR10177	.	.	ENSP00000261254	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000261254	Transcript	.	.	ENSG00000118971	1583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.75)	.	CCND2_HUMAN	CCND2	HGNC	.	.	UPI00001275C5	SNV	CCND2,missense_variant,p.Asn19Lys,ENST00000261254,;CCND2,upstream_gene_variant,,ENST00000536537,;CCND2-AS2,intron_variant,,ENST00000537370,;CCND2-AS1,intron_variant,,ENST00000539135,;CCND2,upstream_gene_variant,,ENST00000541542,;CCND2,upstream_gene_variant,,ENST00000536795,;	326	36	68	SUCCESS
GALNT8	26290	.	GRCh37	12	4848462	4848462	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs111635477	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	52	0	ENST00000252318.2:c.643G>T	p.Glu215Ter	p.E215*	ENST00000252318	NM_017417.1	215	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS8533.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAAATC	NONE	byCluster	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000252318	.	3/11	.	.	.	.	.	.	.	.	rs111635477	3/11	PASS	ENST00000252318	Transcript	.	.	ENSG00000130035	4130	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT8_HUMAN	GALNT8	HGNC	Q68VJ3_HUMAN	.	UPI0000070DEC	SNV	GALNT8,stop_gained,p.Glu215Ter,ENST00000252318,;RP11-234B24.6,3_prime_UTR_variant,,ENST00000544741,;	980	53	61	SUCCESS
TMTC2	160335	.	GRCh37	12	83250808	83250808	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	48	119	0	ENST00000321196.3:c.103C>T	p.Gln35Ter	p.Q35*	ENST00000321196	NM_152588.1	35	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS9025.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATCAGGAC	NONE	.	.	hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083	.	.	ENSP00000322300	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,stop_gained,p.Gln35Ter,ENST00000548305,;TMTC2,stop_gained,p.Gln35Ter,ENST00000321196,;TMTC2,stop_gained,p.Gln29Ter,ENST00000549919,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;TMTC2,intron_variant,,ENST00000546590,;	810	119	143	SUCCESS
PSPC1	55269	.	GRCh37	13	20277467	20277467	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	505	37	602	0	ENST00000338910.4:c.1420C>A	p.Gln474Lys	p.Q474K	ENST00000338910	NM_001042414.2	474	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS41870.1	1420	MUTECT|MUSE	.	CATCTGAGATG	NONE	.	.	hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF14	.	.	ENSP00000343966	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000338910	Transcript	.	.	ENSG00000121390	20320	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.1)	.	PSPC1_HUMAN	PSPC1	HGNC	.	.	UPI000006F2BE	SNV	PSPC1,missense_variant,p.Gln474Lys,ENST00000338910,;PSPC1,intron_variant,,ENST00000471658,;PSPC1,intron_variant,,ENST00000492741,;	1580	602	543	SUCCESS
OR4Q3	441669	.	GRCh37	14	20215599	20215599	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749326042	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	603	154	774	0	ENST00000331723.1:c.13C>G	p.Gln5Glu	p.Q5E	ENST00000331723	NM_172194.1	5	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS32020.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAACAAGAT	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10	.	.	ENSP00000330049	.	1/1	.	.	.	.	.	.	.	.	rs749326042	1/1	PASS	ENST00000331723	Transcript	.	.	ENSG00000182652	15426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.03)	.	OR4Q3_HUMAN	OR4Q3	HGNC	.	.	UPI0000061EF0	SNV	OR4Q3,missense_variant,p.Gln5Glu,ENST00000331723,;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	13	774	757	SUCCESS
OR4N5	390437	.	GRCh37	14	20612767	20612767	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776040713	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	58	99	0	ENST00000333629.1:c.873C>A	p.Asn291Lys	p.N291K	ENST00000333629	NM_001004724.1	291	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS32031.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAACCAGGA	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000332110	.	1/1	.	.	.	.	.	.	.	.	rs776040713	1/1	PASS	ENST00000333629	Transcript	.	.	ENSG00000184394	15358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0)	.	OR4N5_HUMAN	OR4N5	HGNC	.	.	UPI0000041C40	SNV	OR4N5,missense_variant,p.Asn291Lys,ENST00000333629,;RNA5SP381,downstream_gene_variant,,ENST00000516076,;PSMB7P1,upstream_gene_variant,,ENST00000556349,;	873	99	120	SUCCESS
PTGDR	5729	.	GRCh37	14	52734446	52734446	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	13	1	ENST00000306051.2:c.-87C>A		p.*29*	ENST00000306051	NM_000953.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9707.1	.	MUTECT|MUSE	.	GCGCGCGGAGC	NONE	.	.	.	.	.	ENSP00000303424	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000306051	Transcript	.	.	ENSG00000168229	9591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PD2R_HUMAN	PTGDR	HGNC	.	.	UPI000000D994	SNV	PTGDR,5_prime_UTR_variant,,ENST00000306051,;PTGDR,upstream_gene_variant,,ENST00000553372,;	16	14	22	SUCCESS
DDHD1	80821	.	GRCh37	14	53540463	53540463	+	synonymous_variant	Silent	SNP	A	A	G	rs1363844838	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	61	167	0	ENST00000323669.5:c.1392T>C	p.Asp464=	p.D464=	ENST00000323669	NM_001160148.1	464	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS53895.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCATCAAG	NONE	.	.	hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF4	.	.	ENSP00000327104	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000323669	Transcript	.	.	ENSG00000100523	19714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDHD1_HUMAN	DDHD1	HGNC	G3V2P6_HUMAN	.	UPI00001D7B55	SNV	DDHD1,synonymous_variant,p.%3D,ENST00000395606,;DDHD1,synonymous_variant,p.%3D,ENST00000323669,;DDHD1,synonymous_variant,p.%3D,ENST00000357758,;DDHD1,non_coding_transcript_exon_variant,,ENST00000556027,;	1392	167	158	SUCCESS
SOCS4	122809	.	GRCh37	14	55509702	55509702	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	13	0	ENST00000339298.2:c.-58T>C		p.*20*	ENST00000339298				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9722.1	.	MUTECT|MUSE	.	CTTCCTGCTGG	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	SNV	SOCS4,5_prime_UTR_variant,,ENST00000339298,;SOCS4,5_prime_UTR_variant,,ENST00000395472,;SOCS4,5_prime_UTR_variant,,ENST00000555846,;	275	13	18	SUCCESS
SYNE2	23224	.	GRCh37	14	64520042	64520042	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	65	197	0	ENST00000344113.4:c.9411C>T	p.Leu3137=	p.L3137=	ENST00000344113	NM_015180.4	3137	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9761.2	9411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTCCAAAA	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	48/116	.	.	.	.	.	.	.	.	.	48/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000557005,;	9641	197	158	SUCCESS
POMT2	29954	.	GRCh37	14	77746417	77746417	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148466370	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	65	0	ENST00000261534.4:c.1732C>T	p.Arg578Cys	p.R578C	ENST00000261534	NM_013382.5	578	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS9857.1	1732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGTAGGC	NONE	byCluster	.	hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF31	.	A:0.0001	ENSP00000261534	.	17/21	.	.	.	.	.	.	.	.	rs148466370,COSM1371250	17/21	PASS	ENST00000261534	Transcript	.	.	ENSG00000009830	19743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.453)	.	tolerated(0.18)	0,1	POMT2_HUMAN	POMT2	HGNC	G3V4X9_HUMAN	.	UPI0000070587	SNV	POMT2,missense_variant,p.Arg46Cys,ENST00000556171,;POMT2,missense_variant,p.Arg578Cys,ENST00000261534,;POMT2,upstream_gene_variant,,ENST00000556394,;POMT2,upstream_gene_variant,,ENST00000602717,;POMT2,downstream_gene_variant,,ENST00000554884,;POMT2,start_lost,p.Arg1?,ENST00000555710,;POMT2,non_coding_transcript_exon_variant,,ENST00000555134,;POMT2,non_coding_transcript_exon_variant,,ENST00000452340,;POMT2,non_coding_transcript_exon_variant,,ENST00000554767,;POMT2,upstream_gene_variant,,ENST00000556446,;POMT2,downstream_gene_variant,,ENST00000554564,;	1935	65	86	SUCCESS
CHRNB4	1143	.	GRCh37	15	78927919	78927919	+	synonymous_variant	Silent	SNP	G	G	C	rs552677379	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	94	49	0	ENST00000261751.3:c.66C>G	p.Arg22=	p.R22=	ENST00000261751	NM_000750.3	22	cgC/cgG	0	.	A:0	.	A:0	.	C	R	protein_coding	YES	CCDS10306.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCGGCA	NONE	by1000G	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF385,TIGRFAM_domain:TIGR00860	A:0.001	.	ENSP00000261751	A:0	2/6	.	.	.	.	.	.	.	.	rs552677379,COSM344368	2/6	PASS	ENST00000261751	Transcript	.	A:0.0002	ENSG00000117971	1964	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	ACHB4_HUMAN	CHRNB4	HGNC	.	.	UPI0000125276	SNV	CHRNB4,synonymous_variant,p.%3D,ENST00000261751,;CHRNB4,synonymous_variant,p.%3D,ENST00000412074,;CHRNB4,non_coding_transcript_exon_variant,,ENST00000560511,;CHRNB4,synonymous_variant,p.%3D,ENST00000559849,;	178	49	107	SUCCESS
NTRK3	4916	.	GRCh37	15	88472662	88472662	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	34	49	0	ENST00000360948.2:c.1893C>A	p.Ala631=	p.A631=	ENST00000360948	NM_001012338.2	631	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32322.1	1893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGGCCCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000354207	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,synonymous_variant,p.%3D,ENST00000558676,;NTRK3,synonymous_variant,p.%3D,ENST00000558576,;NTRK3,synonymous_variant,p.%3D,ENST00000557856,;NTRK3,synonymous_variant,p.%3D,ENST00000394480,;NTRK3,synonymous_variant,p.%3D,ENST00000542733,;NTRK3,synonymous_variant,p.%3D,ENST00000357724,;NTRK3,synonymous_variant,p.%3D,ENST00000355254,;NTRK3,synonymous_variant,p.%3D,ENST00000360948,;NTRK3,downstream_gene_variant,,ENST00000559680,;	2055	49	67	SUCCESS
IL21R	50615	.	GRCh37	16	27448870	27448870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	22	31	0	ENST00000337929.3:c.214C>A	p.His72Asn	p.H72N	ENST00000337929	NM_181078.2	72	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS10630.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCACAAT	NONE	.	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	.	.	ENSP00000338010	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337929	Transcript	.	.	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	deleterious(0.01)	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.His72Asn,ENST00000395755,;IL21R,missense_variant,p.His72Asn,ENST00000564089,;IL21R,missense_variant,p.His72Asn,ENST00000395754,;IL21R,missense_variant,p.His72Asn,ENST00000337929,;	687	31	31	SUCCESS
APOBR	55911	.	GRCh37	16	28507319	28507319	+	synonymous_variant	Silent	SNP	T	T	C	rs562296617	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	27	2	ENST00000431282.1:c.957T>C	p.Ala319=	p.A319=	ENST00000431282		319	gcT/gcC	0	.	C:0.0129	.	C:0	.	C	A	protein_coding	YES	CCDS58442.1	957	SOMATICSNIPER|VARSCANS	.	GAGGCTGAAAC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15964,hmmpanther:PTHR15964:SF0	C:0	.	ENSP00000457539	C:0	2/4	.	.	.	.	.	.	.	.	rs562296617	2/4	PASS	ENST00000564831	Transcript	.	C:0.0034	ENSG00000184730	24087	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	APOBR_HUMAN	APOBR	HGNC	.	.	UPI000013EFFC	SNV	APOBR,synonymous_variant,p.%3D,ENST00000431282,;APOBR,synonymous_variant,p.%3D,ENST00000328423,;APOBR,synonymous_variant,p.%3D,ENST00000564831,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000354630,;CLN3,upstream_gene_variant,,ENST00000357857,;IL27,downstream_gene_variant,,ENST00000356897,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000357076,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000359984,;CLN3,upstream_gene_variant,,ENST00000360019,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000535392,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000568497,;	990	29	29	SUCCESS
ZDHHC1	29800	.	GRCh37	16	67432171	67432171	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	67	64	0	ENST00000348579.2:c.871G>C	p.Ala291Pro	p.A291P	ENST00000348579	NM_013304.2	291	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS10836.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGCCTCCT	NONE	.	.	hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF8	.	.	ENSP00000340299	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000348579	Transcript	.	.	ENSG00000159714	17916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.06)	.	ZDHC1_HUMAN	ZDHHC1	HGNC	.	.	UPI000013C37E	SNV	ZDHHC1,missense_variant,p.Ala291Pro,ENST00000348579,;ZDHHC1,missense_variant,p.Ala160Pro,ENST00000565726,;TPPP3,upstream_gene_variant,,ENST00000562206,;TPPP3,upstream_gene_variant,,ENST00000290942,;TPPP3,upstream_gene_variant,,ENST00000393957,;ZDHHC1,non_coding_transcript_exon_variant,,ENST00000562122,;ZDHHC1,upstream_gene_variant,,ENST00000566075,;ZDHHC1,upstream_gene_variant,,ENST00000567311,;TPPP3,upstream_gene_variant,,ENST00000561537,;	1213	64	83	SUCCESS
ELAC2	60528	.	GRCh37	17	12896302	12896302	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	16	14	0	ENST00000338034.4:c.2314G>C	p.Ala772Pro	p.A772P	ENST00000338034	NM_018127.6	772	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS11164.1	2314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAAACA	NONE	.	.	hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44	.	.	ENSP00000337445	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,missense_variant,p.Ala572Pro,ENST00000584650,;ELAC2,missense_variant,p.Ala732Pro,ENST00000426905,;ELAC2,missense_variant,p.Ala772Pro,ENST00000338034,;ELAC2,missense_variant,p.Ala753Pro,ENST00000395962,;ARHGAP44,downstream_gene_variant,,ENST00000340825,;ARHGAP44,downstream_gene_variant,,ENST00000262444,;ARHGAP44,downstream_gene_variant,,ENST00000379672,;RP11-597M12.1,upstream_gene_variant,,ENST00000582915,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;ELAC2,non_coding_transcript_exon_variant,,ENST00000480891,;ELAC2,non_coding_transcript_exon_variant,,ENST00000487229,;ELAC2,non_coding_transcript_exon_variant,,ENST00000465825,;ELAC2,downstream_gene_variant,,ENST00000491478,;ARHGAP44,downstream_gene_variant,,ENST00000580768,;ARHGAP44,downstream_gene_variant,,ENST00000584974,;ELAC2,downstream_gene_variant,,ENST00000492559,;ARHGAP44,downstream_gene_variant,,ENST00000544416,;	2554	14	22	SUCCESS
OR1A2	26189	.	GRCh37	17	3101458	3101458	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	27	517	0	ENST00000381951.1:c.646T>C	p.Ser216Pro	p.S216P	ENST00000381951	NM_012352.1	216	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS11021.1	646	MUTECT|MUSE|VARSCANS	.	TTGTCTCCTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF319,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000371377	.	1/1	.	.	.	.	.	.	.	.	COSM1286800	1/1	PASS	ENST00000381951	Transcript	.	.	ENSG00000172150	8180	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(1)	.	deleterious(0)	1	OR1A2_HUMAN	OR1A2	HGNC	.	.	UPI0000041E56	SNV	OR1A2,missense_variant,p.Ser216Pro,ENST00000381951,;	646	517	304	SUCCESS
GAS2L2	246176	.	GRCh37	17	34072948	34072948	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1441975487	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	15	0	ENST00000254466.6:c.1568C>T	p.Thr523Ile	p.T523I	ENST00000254466	NM_139285.3	523	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11298.1	1568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTGTAGCA	NONE	.	.	hmmpanther:PTHR11915	.	.	ENSP00000254466	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000254466	Transcript	.	.	ENSG00000132139	24846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.13)	.	GA2L2_HUMAN	GAS2L2	HGNC	.	.	UPI0000061E50	SNV	GAS2L2,missense_variant,p.Thr507Ile,ENST00000587565,;GAS2L2,missense_variant,p.Thr523Ile,ENST00000254466,;RASL10B,downstream_gene_variant,,ENST00000268864,;	1596	15	25	SUCCESS
STRADA	92335	.	GRCh37	17	61784645	61784645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	41	25	0	ENST00000336174.6:c.715A>G	p.Lys239Glu	p.K239E	ENST00000336174	NM_001003787.2	239	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32703.1	715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTTGACAC	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361,PROSITE_profiles:PS50011	.	.	ENSP00000336655	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000336174	Transcript	.	.	ENSG00000266173	30172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.626)	.	tolerated(0.32)	.	STRAA_HUMAN	STRADA	HGNC	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN	.	UPI000013CBBE	SNV	STRADA,missense_variant,p.Lys202Glu,ENST00000392950,;STRADA,missense_variant,p.Lys210Glu,ENST00000582137,;STRADA,missense_variant,p.Lys239Glu,ENST00000336174,;STRADA,missense_variant,p.Lys181Glu,ENST00000375840,;STRADA,missense_variant,p.Lys181Glu,ENST00000245865,;STRADA,missense_variant,p.Lys111Glu,ENST00000578008,;STRADA,missense_variant,p.Lys195Glu,ENST00000447001,;STRADA,intron_variant,,ENST00000579340,;STRADA,intron_variant,,ENST00000578801,;STRADA,downstream_gene_variant,,ENST00000580338,;STRADA,upstream_gene_variant,,ENST00000582026,;STRADA,non_coding_transcript_exon_variant,,ENST00000580039,;STRADA,downstream_gene_variant,,ENST00000581505,;STRADA,3_prime_UTR_variant,,ENST00000581243,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,downstream_gene_variant,,ENST00000577375,;STRADA,upstream_gene_variant,,ENST00000583085,;	828	25	64	SUCCESS
ACADVL	37	.	GRCh37	17	7126517	7126517	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	60	93	0	ENST00000356839.5:c.1143G>A	p.Glu381=	p.E381=	ENST00000356839	NM_001270448.1	381	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS58509.1	1212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGAAGCT	NONE	.	.	Superfamily_domains:SSF47203,Gene3D:1.20.140.10,Pfam_domain:PF00441,hmmpanther:PTHR10909:SF121,hmmpanther:PTHR10909	.	.	ENSP00000438689	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000543245	Transcript	.	.	ENSG00000072778	92	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACADV_HUMAN	ACADVL	HGNC	B3KPA6_HUMAN	.	UPI0002064F84	SNV	ACADVL,synonymous_variant,p.%3D,ENST00000356839,;ACADVL,synonymous_variant,p.%3D,ENST00000543245,;ACADVL,synonymous_variant,p.%3D,ENST00000350303,;ACADVL,coding_sequence_variant,p.%3D,ENST00000542255,;DLG4,upstream_gene_variant,,ENST00000399510,;ACADVL,downstream_gene_variant,,ENST00000584103,;DVL2,downstream_gene_variant,,ENST00000575458,;ACADVL,upstream_gene_variant,,ENST00000579546,;DVL2,downstream_gene_variant,,ENST00000575756,;DVL2,downstream_gene_variant,,ENST00000575086,;DVL2,downstream_gene_variant,,ENST00000005340,;DVL2,downstream_gene_variant,,ENST00000574143,;ACADVL,downstream_gene_variant,,ENST00000583312,;ACADVL,downstream_gene_variant,,ENST00000579886,;MIR324,downstream_gene_variant,,ENST00000362183,;ACADVL,upstream_gene_variant,,ENST00000583074,;ACADVL,downstream_gene_variant,,ENST00000577857,;ACADVL,downstream_gene_variant,,ENST00000581562,;ACADVL,synonymous_variant,p.%3D,ENST00000583858,;ACADVL,3_prime_UTR_variant,,ENST00000322910,;ACADVL,non_coding_transcript_exon_variant,,ENST00000582379,;ACADVL,non_coding_transcript_exon_variant,,ENST00000585203,;ACADVL,non_coding_transcript_exon_variant,,ENST00000578824,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579425,;ACADVL,non_coding_transcript_exon_variant,,ENST00000578579,;ACADVL,upstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000578421,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,upstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000579286,;DVL2,downstream_gene_variant,,ENST00000576840,;ACADVL,downstream_gene_variant,,ENST00000580263,;ACADVL,downstream_gene_variant,,ENST00000577191,;ACADVL,upstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000578269,;ACADVL,upstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000571745,;ACADVL,downstream_gene_variant,,ENST00000582356,;ACADVL,upstream_gene_variant,,ENST00000582450,;ACADVL,upstream_gene_variant,,ENST00000578319,;ACADVL,upstream_gene_variant,,ENST00000578809,;DVL2,downstream_gene_variant,,ENST00000576285,;ACADVL,downstream_gene_variant,,ENST00000583760,;ACADVL,downstream_gene_variant,,ENST00000577433,;ACADVL,downstream_gene_variant,,ENST00000582166,;ACADVL,downstream_gene_variant,,ENST00000580365,;ACADVL,upstream_gene_variant,,ENST00000583850,;ACADVL,upstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000582056,;ACADVL,downstream_gene_variant,,ENST00000581378,;	1233	93	81	SUCCESS
LMAN1	3998	.	GRCh37	18	57026472	57026472	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760200001	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	24	44	0	ENST00000251047.5:c.5C>T	p.Ala2Val	p.A2V	ENST00000251047	NM_005570.3	2	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11974.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGCCATC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12223:SF21,hmmpanther:PTHR12223	.	.	ENSP00000251047	.	1/13	.	.	.	.	.	.	.	.	rs760200001	1/13	PASS	ENST00000251047	Transcript	.	.	ENSG00000074695	6631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	LMAN1_HUMAN	LMAN1	HGNC	.	.	UPI000012A0DD	SNV	LMAN1,missense_variant,p.Ala2Val,ENST00000251047,;RP11-27G24.1,upstream_gene_variant,,ENST00000591331,;LMAN1,non_coding_transcript_exon_variant,,ENST00000587561,;	723	44	35	SUCCESS
YIPF2	78992	.	GRCh37	19	11034659	11034659	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	23	0	ENST00000253031.2:c.501C>T	p.Ile167=	p.I167=	ENST00000253031	NM_024029.3	167	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12251.1	501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGATGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12822:SF3,hmmpanther:PTHR12822,Pfam_domain:PF04893	.	.	ENSP00000466055	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000586748	Transcript	.	.	ENSG00000130733	28476	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF2_HUMAN	YIPF2	HGNC	K7ERW0_HUMAN,K7EM92_HUMAN,K7EL70_HUMAN,K7EJN9_HUMAN	.	UPI00000729B3	SNV	YIPF2,synonymous_variant,p.%3D,ENST00000585858,;YIPF2,synonymous_variant,p.%3D,ENST00000586748,;YIPF2,synonymous_variant,p.%3D,ENST00000588347,;YIPF2,synonymous_variant,p.%3D,ENST00000253031,;YIPF2,synonymous_variant,p.%3D,ENST00000590329,;YIPF2,synonymous_variant,p.%3D,ENST00000592646,;YIPF2,splice_region_variant,,ENST00000589971,;YIPF2,5_prime_UTR_variant,,ENST00000586575,;YIPF2,5_prime_UTR_variant,,ENST00000587943,;C19orf52,upstream_gene_variant,,ENST00000270502,;CARM1,downstream_gene_variant,,ENST00000327064,;YIPF2,upstream_gene_variant,,ENST00000591872,;CARM1,downstream_gene_variant,,ENST00000344150,;CARM1,downstream_gene_variant,,ENST00000586298,;YIPF2,non_coding_transcript_exon_variant,,ENST00000588962,;CARM1,downstream_gene_variant,,ENST00000586221,;CARM1,downstream_gene_variant,,ENST00000592516,;YIPF2,downstream_gene_variant,,ENST00000592505,;CARM1,downstream_gene_variant,,ENST00000590699,;CARM1,downstream_gene_variant,,ENST00000586508,;	674	23	20	SUCCESS
ELAVL3	1995	.	GRCh37	19	11569052	11569052	+	synonymous_variant	Silent	SNP	G	G	A	rs114284954	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	44	0	ENST00000359227.3:c.537C>T	p.Ala179=	p.A179=	ENST00000359227	NM_001420.3	179	gcC/gcT	0	A:0.0116	A:0.0174	.	A:0.0014	.	A	A	protein_coding	YES	CCDS32912.1	537	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGGCCTC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF250,TIGRFAM_domain:TIGR01661,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	A:0	A:0	ENSP00000352162	A:0	5/7	.	.	.	.	.	.	.	.	rs114284954	5/7	common_in_exac	ENST00000359227	Transcript	.	A:0.0048	ENSG00000196361	3314	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	ELAV3_HUMAN	ELAVL3	HGNC	Q96J71_HUMAN	.	UPI0000129E75	SNV	ELAVL3,synonymous_variant,p.%3D,ENST00000438662,;ELAVL3,synonymous_variant,p.%3D,ENST00000359227,;	962	45	67	SUCCESS
RFX1	5989	.	GRCh37	19	14092957	14092957	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	44	78	0	ENST00000254325.4:c.597C>T	p.Thr199=	p.T199=	ENST00000254325	NM_002918.4	199	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12301.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGTACC	NONE	.	.	.	.	.	ENSP00000254325	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000254325	Transcript	.	.	ENSG00000132005	9982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFX1_HUMAN	RFX1	HGNC	.	.	UPI000013CE29	SNV	RFX1,synonymous_variant,p.%3D,ENST00000254325,;RFX1,downstream_gene_variant,,ENST00000588885,;RFX1,non_coding_transcript_exon_variant,,ENST00000589239,;RFX1,downstream_gene_variant,,ENST00000589760,;RFX1,downstream_gene_variant,,ENST00000589937,;	832	78	92	SUCCESS
AP3D1	8943	.	GRCh37	19	2120931	2120931	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs767249856	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	32	0	ENST00000345016.5:c.1411A>C	p.Ser471Arg	p.S471R	ENST00000345016	NM_003938.6	471	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS58638.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGGCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22781,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371	.	.	ENSP00000347416	.	14/32	.	.	.	.	.	.	.	.	rs767249856,COSM1183139	14/32	PASS	ENST00000355272	Transcript	.	.	ENSG00000065000	568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.312)	.	deleterious(0.03)	0,1	AP3D1_HUMAN	AP3D1	HGNC	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN	.	UPI0000202F99	SNV	AP3D1,missense_variant,p.Ser380Arg,ENST00000356926,;AP3D1,missense_variant,p.Ser302Arg,ENST00000350812,;AP3D1,missense_variant,p.Ser471Arg,ENST00000355272,;AP3D1,missense_variant,p.Ser471Arg,ENST00000345016,;AP3D1,downstream_gene_variant,,ENST00000590683,;AP3D1,upstream_gene_variant,,ENST00000591631,;AP3D1,upstream_gene_variant,,ENST00000586177,;	1618	32	60	SUCCESS
NPHS1	4868	.	GRCh37	19	36339602	36339602	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	42	62	0	ENST00000378910.5:c.1107G>A	p.Arg369=	p.R369=	ENST00000378910	NM_004646.3	369	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32996.1	1107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCCGCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF31,hmmpanther:PTHR11640,Gene3D:2.60.40.10,Pfam_domain:PF08205,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000368190	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000378910	Transcript	1	.	ENSG00000161270	7908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHN_HUMAN	NPHS1	HGNC	.	.	UPI000004EF61	SNV	NPHS1,synonymous_variant,p.%3D,ENST00000378910,;NPHS1,synonymous_variant,p.%3D,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,non_coding_transcript_exon_variant,,ENST00000592132,;NPHS1,upstream_gene_variant,,ENST00000585400,;	1107	62	179	SUCCESS
WDR87	83889	.	GRCh37	19	38378502	38378502	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs564531656	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	118	284	1	ENST00000303868.5:c.5692G>T	p.Glu1898Ter	p.E1898*	ENST00000303868	NM_031951.3	1898	Gaa/Taa	0	.	T:0.0008	.	T:0	.	A	E/*	protein_coding	YES	CCDS46063.1	5692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCCTGTG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	T:0	.	ENSP00000368025	T:0	6/6	.	.	.	.	.	.	.	.	rs564531656	6/6	PASS	ENST00000303868	Transcript	.	T:0.0002	ENSG00000171804	29934	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,stop_gained,p.Glu1937Ter,ENST00000447313,;WDR87,stop_gained,p.Glu1898Ter,ENST00000303868,;	5917	285	422	SUCCESS
WDR87	83889	.	GRCh37	19	38378503	38378503	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	306	115	286	0	ENST00000303868.5:c.5691G>C	p.Gln1897His	p.Q1897H	ENST00000303868	NM_031951.3	1897	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS46063.1	5691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCTGTGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Gln1936His,ENST00000447313,;WDR87,missense_variant,p.Gln1897His,ENST00000303868,;	5916	286	421	SUCCESS
ZNF234	10780	.	GRCh37	19	44661606	44661606	+	synonymous_variant	Silent	SNP	C	C	G	rs182811010	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	111	0	ENST00000426739.2:c.1437C>G	p.Thr479=	p.T479=	ENST00000426739	NM_006630.2	479	acC/acG	0	T:0	T:0	.	T:0.0014	.	G	T	protein_coding	YES	CCDS46101.1	1437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACCGGTGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF195,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	T:0.001	T:0.0004	ENSP00000400878	T:0	6/6	.	.	.	.	.	.	.	.	rs182811010	6/6	PASS	ENST00000426739	Transcript	.	T:0.0004	ENSG00000263002	13027	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN234_HUMAN	ZNF234	HGNC	Q86WM3_HUMAN,Q86WM2_HUMAN	.	UPI0000070C95	SNV	ZNF234,synonymous_variant,p.%3D,ENST00000592437,;ZNF234,synonymous_variant,p.%3D,ENST00000426739,;	1695	111	136	SUCCESS
CCDC8	83987	.	GRCh37	19	46914889	46914889	+	synonymous_variant	Silent	SNP	C	C	T	rs538950740	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	129	156	1	ENST00000307522.3:c.1179G>A	p.Ala393=	p.A393=	ENST00000307522	NM_032040.4	393	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12685.1	1179	RADIA|MUTECT|MUSE	.	GCCTCCGCCCT	NONE	byCluster	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	rs538950740	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,synonymous_variant,p.%3D,ENST00000307522,;	1953	157	299	SUCCESS
CCDC8	83987	.	GRCh37	19	46914919	46914919	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1259007630	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	59	176	0	ENST00000307522.3:c.1149C>G	p.His383Gln	p.H383Q	ENST00000307522	NM_032040.4	383	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS12685.1	1149	MUTECT|MUSE	.	TCCCTGTGGTT	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	COSM3721170	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0)	.	.	1	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,missense_variant,p.His383Gln,ENST00000307522,;	1923	176	217	SUCCESS
ANKRD20A12P	100874392	.	GRCh37	1	142700195	142700195	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	rs201418534	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	41	0	ENST00000416817.2:n.1800C>G		p.*600*	ENST00000416817				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGTTTTT	NONE	.	.	.	.	.	.	.	8/14	.	.	.	.	.	.	.	.	rs201418534	8/14	PASS	ENST00000610091	Transcript	.	.	ENSG00000203849	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-417J8.6	Clone_based_vega_gene	.	.	.	SNV	RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000369381,;RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000610091,;RP11-417J8.3,intron_variant,,ENST00000411746,;ANKRD20A12P,non_coding_transcript_exon_variant,,ENST00000416817,;	2972	41	36	SUCCESS
LCE1E	353135	.	GRCh37	1	152759968	152759968	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	31	80	0	ENST00000368770.3:c.197del	p.Gly66AlafsTer12	p.G66Afs*12	ENST00000368770	NM_178353.1	65	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS1024.1	193	INDELOCATOR|VARSCANI	.	AGCTCTGGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000357759	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368770	Transcript	.	.	ENSG00000186226	29466	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCE1E_HUMAN	LCE1E	HGNC	.	.	UPI0000161050	deletion	LCE1E,frameshift_variant,p.Gly66AlafsTer12,ENST00000368771,;LCE1E,frameshift_variant,p.Gly66AlafsTer12,ENST00000368770,;	246	80	127	SUCCESS
IVL	3713	.	GRCh37	1	152883162	152883162	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs933809767	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	66	126	0	ENST00000368764.3:c.889G>A	p.Asp297Asn	p.D297N	ENST00000368764		297	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1030.1	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGATCAG	NONE	.	.	hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.03)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.Asp297Asn,ENST00000368764,;IVL,missense_variant,p.Asp151Asn,ENST00000392667,;	953	126	168	SUCCESS
RUSC1	23623	.	GRCh37	1	155290718	155290718	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs745696830	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	18	0	ENST00000368352.5:c.-151C>A		p.*51*	ENST00000368352	NM_001105203.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41410.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCGCCGG	NONE	byFrequency	.	.	.	.	ENSP00000357336	.	1/10	.	.	.	.	.	.	.	.	rs745696830	1/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,5_prime_UTR_variant,,ENST00000368352,;RUSC1,5_prime_UTR_variant,,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000450199,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,intron_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000446880,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	1	18	37	SUCCESS
ARID1A	8289	.	GRCh37	1	27107084	27107085	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GC	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	18	0	ENST00000324856.7:c.6697_6698dup	p.Ala2234GlyfsTer34	p.A2234Gfs*34	ENST00000324856	NM_006015.4	2232	cgg/cgGCg	0	.	.	.	.	.	GC	R/RX	protein_coding	YES	CCDS285.1	6695-6696	INDELOCATOR|VARSCANI	.	GATGCGGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	insertion	ARID1A,frameshift_variant,p.Ala2017GlyfsTer34,ENST00000457599,;ARID1A,frameshift_variant,p.Ala1851GlyfsTer34,ENST00000374152,;ARID1A,frameshift_variant,p.Ala1131GlyfsTer34,ENST00000430799,;ARID1A,frameshift_variant,p.Ala562GlyfsTer34,ENST00000540690,;ARID1A,frameshift_variant,p.Ala2234GlyfsTer34,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	7066-7067	18	19	SUCCESS
COL16A1	1307	.	GRCh37	1	32121031	32121031	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749754753	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	73	149	0	ENST00000373672.3:c.4174G>A	p.Gly1392Ser	p.G1392S	ENST00000373672	NM_001856.3	1392	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS41297.1	4174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCAGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	67/71	.	.	.	.	.	.	.	.	rs749754753	67/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Gly1392Ser,ENST00000271069,;COL16A1,missense_variant,p.Gly1392Ser,ENST00000373672,;COL16A1,downstream_gene_variant,,ENST00000440437,;RP11-73M7.6,intron_variant,,ENST00000589462,;RP11-73M7.6,intron_variant,,ENST00000609338,;RP11-73M7.6,intron_variant,,ENST00000609373,;RP11-73M7.6,intron_variant,,ENST00000593188,;RP11-73M7.6,intron_variant,,ENST00000609625,;RP11-73M7.6,intron_variant,,ENST00000609033,;RP11-73M7.6,intron_variant,,ENST00000585413,;RP11-73M7.6,intron_variant,,ENST00000587445,;RP11-73M7.6,intron_variant,,ENST00000610216,;RP11-73M7.6,intron_variant,,ENST00000608332,;RP11-73M7.6,intron_variant,,ENST00000609549,;RP11-73M7.6,intron_variant,,ENST00000607926,;RP11-73M7.6,intron_variant,,ENST00000610043,;RP11-73M7.6,intron_variant,,ENST00000608246,;RP11-73M7.6,intron_variant,,ENST00000585660,;RP11-73M7.6,intron_variant,,ENST00000608888,;RP11-73M7.6,intron_variant,,ENST00000591592,;RP11-73M7.6,intron_variant,,ENST00000591929,;RP11-73M7.6,upstream_gene_variant,,ENST00000588288,;RP11-73M7.6,upstream_gene_variant,,ENST00000445166,;COL16A1,non_coding_transcript_exon_variant,,ENST00000461217,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,;	4691	149	183	SUCCESS
PLEKHG5	57449	.	GRCh37	1	6530878	6530878	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	41	36	0	ENST00000400915.3:c.1627C>T	p.Arg543Trp	p.R543W	ENST00000400915	NM_001042663.1	543	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS57969.1	1696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGCTGGT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF6,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000439625	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000537245	Transcript	.	.	ENSG00000171680	29105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	PKHG5_HUMAN	PLEKHG5	HGNC	B3KR92_HUMAN	.	UPI000206539E	SNV	PLEKHG5,missense_variant,p.Arg487Trp,ENST00000377725,;PLEKHG5,missense_variant,p.Arg487Trp,ENST00000400913,;PLEKHG5,missense_variant,p.Arg556Trp,ENST00000535355,;PLEKHG5,missense_variant,p.Arg487Trp,ENST00000340850,;PLEKHG5,missense_variant,p.Arg543Trp,ENST00000400915,;PLEKHG5,missense_variant,p.Arg487Trp,ENST00000377737,;PLEKHG5,missense_variant,p.Arg566Trp,ENST00000537245,;PLEKHG5,missense_variant,p.Arg487Trp,ENST00000544978,;PLEKHG5,missense_variant,p.Arg564Trp,ENST00000377748,;PLEKHG5,missense_variant,p.Arg564Trp,ENST00000377740,;PLEKHG5,missense_variant,p.Arg524Trp,ENST00000377732,;PLEKHG5,missense_variant,p.Arg487Trp,ENST00000377728,;TNFRSF25,upstream_gene_variant,,ENST00000356876,;TNFRSF25,upstream_gene_variant,,ENST00000348333,;TNFRSF25,upstream_gene_variant,,ENST00000351959,;TNFRSF25,upstream_gene_variant,,ENST00000377782,;TNFRSF25,upstream_gene_variant,,ENST00000351748,;TNFRSF25,upstream_gene_variant,,ENST00000461703,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000487949,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;TNFRSF25,upstream_gene_variant,,ENST00000515145,;TNFRSF25,upstream_gene_variant,,ENST00000414040,;TNFRSF25,upstream_gene_variant,,ENST00000453341,;TNFRSF25,upstream_gene_variant,,ENST00000510563,;TNFRSF25,upstream_gene_variant,,ENST00000485036,;TNFRSF25,upstream_gene_variant,,ENST00000480393,;TNFRSF25,upstream_gene_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000502588,;TNFRSF25,upstream_gene_variant,,ENST00000502730,;	1761	36	64	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77333366	77333366	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	46	102	0	ENST00000477717.1:c.6G>A	p.Lys2=	p.K2=	ENST00000477717	NM_030965.1	2	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS673.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAGACCCT	NONE	.	.	PIRSF_domain:PIRSF005557,Cleavage_site_(Signalp):SignalP-TM	.	.	ENSP00000417583	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477717	Transcript	.	.	ENSG00000117069	19342	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,synonymous_variant,p.%3D,ENST00000477717,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000480428,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000496845,;ST6GALNAC5,synonymous_variant,p.%3D,ENST00000318803,;	241	102	104	SUCCESS
ZNF335	63925	.	GRCh37	20	44592119	44592119	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772818462	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	29	0	ENST00000322927.2:c.1526C>T	p.Ser509Leu	p.S509L	ENST00000322927	NM_022095.3	509	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS13389.1	1526	MUTECT|MUSE|VARSCANS	.	TGAGCGAGGAC	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403,PROSITE_profiles:PS50157	.	.	ENSP00000325326	.	9/28	.	.	.	.	.	.	.	.	rs772818462	9/28	PASS	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,missense_variant,p.Ser509Leu,ENST00000322927,;ZNF335,missense_variant,p.Ser354Leu,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000475002,;ZNF335,downstream_gene_variant,,ENST00000476822,;ZNF335,downstream_gene_variant,,ENST00000494955,;	1627	29	26	SUCCESS
STX16	8675	.	GRCh37	20	57246217	57246217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	28	89	0	ENST00000371141.4:c.656C>A	p.Thr219Lys	p.T219K	ENST00000371141	NM_001001433.2	219	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS13468.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTACAGAGG	NONE	.	.	hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957,Gene3D:1.20.58.70,Superfamily_domains:SSF47661	.	.	ENSP00000360183	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	deleterious(0)	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,missense_variant,p.Thr202Lys,ENST00000355957,;STX16,missense_variant,p.Thr198Lys,ENST00000371132,;STX16,missense_variant,p.Thr219Lys,ENST00000371141,;STX16,missense_variant,p.Thr215Lys,ENST00000358029,;STX16,missense_variant,p.Thr166Lys,ENST00000312283,;STX16,missense_variant,p.Thr166Lys,ENST00000359617,;STX16,missense_variant,p.Thr219Lys,ENST00000361830,;STX16,missense_variant,p.Thr202Lys,ENST00000361770,;STX16,intron_variant,,ENST00000438253,;STX16,downstream_gene_variant,,ENST00000412911,;STX16,downstream_gene_variant,,ENST00000458280,;STX16,non_coding_transcript_exon_variant,,ENST00000490700,;STX16,non_coding_transcript_exon_variant,,ENST00000496117,;STX16,non_coding_transcript_exon_variant,,ENST00000468590,;STX16,intron_variant,,ENST00000496003,;STX16-NPEPL1,missense_variant,p.Thr219Lys,ENST00000530122,;STX16,splice_region_variant,,ENST00000464640,;STX16,3_prime_UTR_variant,,ENST00000467096,;STX16,3_prime_UTR_variant,,ENST00000493301,;STX16,3_prime_UTR_variant,,ENST00000483434,;STX16,3_prime_UTR_variant,,ENST00000476384,;STX16,downstream_gene_variant,,ENST00000460655,;STX16-NPEPL1,upstream_gene_variant,,ENST00000413559,;	1380	89	113	SUCCESS
CDH26	60437	.	GRCh37	20	58560154	58560154	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754090670	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	36	0	ENST00000348616.4:c.807C>A	p.Asn269Lys	p.N269K	ENST00000348616	NM_177980.2	269	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS13485.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACAACCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000339390	.	7/18	.	.	.	.	.	.	.	.	rs754090670	7/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,missense_variant,p.Asn269Lys,ENST00000244047,;CDH26,missense_variant,p.Asn269Lys,ENST00000348616,;CDH26,upstream_gene_variant,,ENST00000370991,;CDH26,upstream_gene_variant,,ENST00000477058,;	1107	36	68	SUCCESS
CHAF1B	8208	.	GRCh37	21	37785409	37785409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	25	0	ENST00000314103.5:c.1289C>A	p.Pro430His	p.P430H	ENST00000314103	NM_005441.2	430	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS13644.1	1289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCCGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15271,Pfam_domain:PF15512	.	.	ENSP00000315700	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000314103	Transcript	.	.	ENSG00000159259	1911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	CAF1B_HUMAN	CHAF1B	HGNC	.	.	UPI0000126DD1	SNV	CHAF1B,missense_variant,p.Pro430His,ENST00000314103,;CHAF1B,downstream_gene_variant,,ENST00000481458,;	1440	25	46	SUCCESS
PDXK	8566	.	GRCh37	21	45152259	45152259	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	55	94	0	ENST00000291565.4:c.88-1691A>G		p.*30*	ENST00000291565	NM_003681.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13699.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGATGGGT	NONE	.	.	.	.	.	ENSP00000291565	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291565	Transcript	.	.	ENSG00000160209	8819	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDXK_HUMAN	PDXK	HGNC	G1UI32_HUMAN	.	UPI0000131524	SNV	PDXK,start_lost,p.Met1?,ENST00000327574,;PDXK,intron_variant,,ENST00000398081,;PDXK,intron_variant,,ENST00000468090,;PDXK,intron_variant,,ENST00000291565,;PDXK,non_coding_transcript_exon_variant,,ENST00000476313,;PDXK,intron_variant,,ENST00000498040,;PDXK,intron_variant,,ENST00000398085,;PDXK,intron_variant,,ENST00000470029,;PDXK,intron_variant,,ENST00000472777,;PDXK,upstream_gene_variant,,ENST00000481512,;PDXK,downstream_gene_variant,,ENST00000438837,;	.	94	115	SUCCESS
MICAL3	57553	.	GRCh37	22	18385513	18385513	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	54	109	0	ENST00000441493.2:c.473G>T	p.Ser158Ile	p.S158I	ENST00000441493	NM_015241.2	158	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS46659.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATACCTGGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000416015	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,missense_variant,p.Ser158Ile,ENST00000207726,;MICAL3,missense_variant,p.Ser158Ile,ENST00000444520,;MICAL3,missense_variant,p.Ser158Ile,ENST00000383094,;MICAL3,missense_variant,p.Ser158Ile,ENST00000414725,;MICAL3,missense_variant,p.Ser158Ile,ENST00000429452,;MICAL3,missense_variant,p.Ser158Ile,ENST00000585038,;MICAL3,missense_variant,p.Ser158Ile,ENST00000441493,;MICAL3,missense_variant,p.Ser158Ile,ENST00000400561,;MICAL3,downstream_gene_variant,,ENST00000424046,;MICAL3,missense_variant,p.Ser158Ile,ENST00000495076,;	826	109	109	SUCCESS
MICAL3	57553	.	GRCh37	22	18385514	18385514	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	54	108	0	ENST00000441493.2:c.473-1G>T		p.X158_splice	ENST00000441493	NM_015241.2	158		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46659.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACCTGGGA	NONE	.	.	.	.	.	ENSP00000416015	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	HIGH	3/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,splice_acceptor_variant,,ENST00000207726,;MICAL3,splice_acceptor_variant,,ENST00000444520,;MICAL3,splice_acceptor_variant,,ENST00000383094,;MICAL3,splice_acceptor_variant,,ENST00000414725,;MICAL3,splice_acceptor_variant,,ENST00000429452,;MICAL3,splice_acceptor_variant,,ENST00000585038,;MICAL3,splice_acceptor_variant,,ENST00000441493,;MICAL3,splice_acceptor_variant,,ENST00000400561,;MICAL3,downstream_gene_variant,,ENST00000424046,;MICAL3,splice_acceptor_variant,,ENST00000495076,;	.	108	108	SUCCESS
IL17REL	400935	.	GRCh37	22	50439551	50439551	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs771026898	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	41	36	0	ENST00000341280.5:c.69C>G	p.Cys23Trp	p.C23W	ENST00000341280		23	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS33679.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCGCAGCC	NONE	.	.	.	.	.	ENSP00000374633	.	4/15	.	.	.	.	.	.	.	.	rs771026898	4/15	PASS	ENST00000389983	Transcript	.	.	ENSG00000188263	33808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	I17EL_HUMAN	IL17REL	HGNC	.	.	UPI0000251EDA	SNV	IL17REL,missense_variant,p.Cys23Trp,ENST00000341280,;IL17REL,missense_variant,p.Cys23Trp,ENST00000389983,;	334	36	70	SUCCESS
MOV10L1	54456	.	GRCh37	22	50528805	50528805	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	18	0	ENST00000262794.5:c.97+191C>A		p.*33*	ENST00000262794	NM_018995.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14084.1	.	MUTECT|MUSE	.	CCGCTCTGGGC	NONE	.	.	.	.	.	ENSP00000262794	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262794	Transcript	.	.	ENSG00000073146	7201	.	.	MODIFIER	1/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M10L1_HUMAN	MOV10L1	HGNC	.	.	UPI00000421FB	SNV	MOV10L1,5_prime_UTR_variant,,ENST00000540615,;MOV10L1,intron_variant,,ENST00000262794,;MOV10L1,intron_variant,,ENST00000395843,;MOV10L1,intron_variant,,ENST00000545383,;MOV10L1,intron_variant,,ENST00000395858,;MLC1,upstream_gene_variant,,ENST00000311597,;MLC1,upstream_gene_variant,,ENST00000535444,;MLC1,upstream_gene_variant,,ENST00000431262,;MLC1,upstream_gene_variant,,ENST00000442311,;MLC1,upstream_gene_variant,,ENST00000538737,;MOV10L1,non_coding_transcript_exon_variant,,ENST00000475190,;MOV10L1,3_prime_UTR_variant,,ENST00000395854,;MOV10L1,3_prime_UTR_variant,,ENST00000419054,;	.	18	27	SUCCESS
TPO	7173	.	GRCh37	2	1497607	1497607	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	43	1	ENST00000329066.4:c.1802C>A	p.Pro601His	p.P601H	ENST00000329066	NM_001206744.1	601	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1643.1	1802	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGCCTCGCC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Pro601His,ENST00000329066,;TPO,missense_variant,p.Pro601His,ENST00000337415,;TPO,missense_variant,p.Pro428His,ENST00000382198,;TPO,missense_variant,p.Pro544His,ENST00000382201,;TPO,missense_variant,p.Pro76His,ENST00000446278,;TPO,missense_variant,p.Pro428His,ENST00000349624,;TPO,missense_variant,p.Pro601His,ENST00000346956,;TPO,missense_variant,p.Pro75His,ENST00000469607,;TPO,missense_variant,p.Pro530His,ENST00000422464,;TPO,missense_variant,p.Pro601His,ENST00000345913,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;	1893	44	90	SUCCESS
MYCN	4613	.	GRCh37	2	16082220	16082220	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	111	148	0	ENST00000281043.3:c.34A>G	p.Met12Val	p.M12V	ENST00000281043	NM_005378.4	12	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS1687.1	34	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCATGATC	NONE	.	.	hmmpanther:PTHR11514:SF3,hmmpanther:PTHR11514,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705	.	.	ENSP00000281043	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000281043	Transcript	.	.	ENSG00000134323	7559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.623)	.	tolerated(0.1)	.	MYCN_HUMAN	MYCN	HGNC	Q9UMQ5_HUMAN,Q7Z7Q9_HUMAN,Q53XS5_HUMAN	.	UPI000012FAF8	SNV	MYCN,missense_variant,p.Met12Val,ENST00000281043,;MYCNOS,intron_variant,,ENST00000448719,;MYCNOS,upstream_gene_variant,,ENST00000439180,;MYCNOS,upstream_gene_variant,,ENST00000453400,;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000420452,;	331	148	256	SUCCESS
TTN	7273	.	GRCh37	2	179472788	179472788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	73	115	0	ENST00000591111.1:c.47803C>T	p.Pro15935Ser	p.P15935S	ENST00000591111		15935	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS59435.1	52726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGGATAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	276/363	.	.	.	.	.	.	.	.	.	276/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro8636Ser,ENST00000359218,;TTN,missense_variant,p.Pro15935Ser,ENST00000591111,;TTN,missense_variant,p.Pro17576Ser,ENST00000589042,;TTN,missense_variant,p.Pro15008Ser,ENST00000342992,;TTN,missense_variant,p.Pro8703Ser,ENST00000342175,;TTN,missense_variant,p.Pro8511Ser,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	52951	115	162	SUCCESS
CTNNA2	1496	.	GRCh37	2	80846317	80846317	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	12	129	0	ENST00000402739.4:c.2538A>T	p.Gly846=	p.G846=	ENST00000402739	NM_001282597.1	846	ggA/ggT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42703.2	.	MUTECT|MUSE	.	GAGGGAGCTCC	NONE	.	.	.	.	.	ENSP00000418191	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODIFIER	21/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,synonymous_variant,p.%3D,ENST00000402739,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000343114,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;AC008067.2,upstream_gene_variant,,ENST00000609950,;AC008067.2,upstream_gene_variant,,ENST00000430876,;	.	129	185	SUCCESS
TRABD2A	129293	.	GRCh37	2	85066338	85066338	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750270376	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	18	115	0	ENST00000409520.2:c.926G>C	p.Gly309Ala	p.G309A	ENST00000409520	NM_001277053.1	309	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS46349.1	779	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCCTATT	NONE	.	.	hmmpanther:PTHR31120,hmmpanther:PTHR31120:SF4	.	.	ENSP00000335004	.	3/6	.	.	.	.	.	.	.	.	rs750270376,COSM221951	3/6	PASS	ENST00000335459	Transcript	.	.	ENSG00000186854	27013	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.997)	.	tolerated(0.44)	0,1	TIKI1_HUMAN	TRABD2A	HGNC	.	.	UPI000058F1DB	SNV	TRABD2A,missense_variant,p.Gly260Ala,ENST00000335459,;TRABD2A,missense_variant,p.Gly309Ala,ENST00000409520,;TRABD2A,missense_variant,p.Gly309Ala,ENST00000409133,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000496500,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000460991,;TRABD2A,upstream_gene_variant,,ENST00000479944,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000495990,;	985	115	167	SUCCESS
ADAM17	6868	.	GRCh37	2	9676045	9676045	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	7	108	0	ENST00000310823.3:c.368C>A	p.Pro123His	p.P123H	ENST00000310823	NM_003183.4	123	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS1665.1	368	MUTECT|MUSE	.	AGTCAGGCTCA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121,Pfam_domain:PF01562	.	.	ENSP00000309968	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000310823	Transcript	.	.	ENSG00000151694	195	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.19)	.	ADA17_HUMAN	ADAM17	HGNC	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN	.	UPI00001254D4	SNV	ADAM17,missense_variant,p.Pro123His,ENST00000497134,;ADAM17,missense_variant,p.Pro123His,ENST00000310823,;snoU13,upstream_gene_variant,,ENST00000459017,;ADAM17,non_coding_transcript_exon_variant,,ENST00000478059,;	551	108	96	SUCCESS
NAA50	80218	.	GRCh37	3	113464833	113464833	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	20	0	ENST00000240922.3:c.-37A>G		p.*13*	ENST00000240922	NM_025146.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2975.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATATCAACG	NONE	.	.	.	.	.	ENSP00000240922	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000240922	Transcript	.	.	ENSG00000121579	29533	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA50_HUMAN	NAA50	HGNC	B0AZT5_HUMAN	.	UPI000003B017	SNV	NAA50,5_prime_UTR_variant,,ENST00000478020,;NAA50,5_prime_UTR_variant,,ENST00000240922,;NAA50,5_prime_UTR_variant,,ENST00000493900,;NAA50,5_prime_UTR_variant,,ENST00000477813,;NAA50,5_prime_UTR_variant,,ENST00000497255,;ATP6V1A,upstream_gene_variant,,ENST00000273398,;ATP6V1A,upstream_gene_variant,,ENST00000475322,;ATP6V1A,upstream_gene_variant,,ENST00000538620,;NAA50,upstream_gene_variant,,ENST00000497525,;ATP6V1A,upstream_gene_variant,,ENST00000496747,;RP11-271C24.2,downstream_gene_variant,,ENST00000492981,;NAA50,non_coding_transcript_exon_variant,,ENST00000467022,;NAA50,5_prime_UTR_variant,,ENST00000481432,;ATP6V1A,upstream_gene_variant,,ENST00000462855,;ATP6V1A,upstream_gene_variant,,ENST00000470455,;RP11-271C24.3,upstream_gene_variant,,ENST00000496068,;	289	20	42	SUCCESS
KY	339855	.	GRCh37	3	134348537	134348537	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	59	94	1	ENST00000423778.2:c.263G>T	p.Gly88Val	p.G88V	ENST00000423778	NM_178554.4	88	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46920.1	263	RADIA|SOMATICSNIPER|VARSCANS	.	GTGTCCCTACA	NONE	.	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31	.	.	ENSP00000397598	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000423778	Transcript	.	.	ENSG00000174611	26576	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.804)	.	deleterious_low_confidence(0.01)	.	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,missense_variant,p.Gly88Val,ENST00000503669,;KY,missense_variant,p.Gly88Val,ENST00000423778,;KY,missense_variant,p.Gly67Val,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;EPHB1,intron_variant,,ENST00000467708,;EPHB1,downstream_gene_variant,,ENST00000472904,;KY,upstream_gene_variant,,ENST00000508041,;KY,splice_region_variant,,ENST00000506319,;	325	95	185	SUCCESS
GMPS	8833	.	GRCh37	3	155643090	155643090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	290	615	553	0	ENST00000496455.2:c.1495A>T	p.Met499Leu	p.M499L	ENST00000496455	NM_003875.2	499	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS46941.1	1495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGATGCAA	NONE	.	.	Superfamily_domains:0047036,Gene3D:3.30.300.10,Pfam_domain:PF00958,hmmpanther:PTHR11922:SF2,hmmpanther:PTHR11922	.	.	ENSP00000419851	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000496455	Transcript	.	.	ENSG00000163655	4378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.56)	.	GUAA_HUMAN	GMPS	HGNC	A8K639_HUMAN	.	UPI0000000CC6	SNV	GMPS,missense_variant,p.Met499Leu,ENST00000496455,;GMPS,missense_variant,p.Met400Leu,ENST00000295920,;	1830	553	905	SUCCESS
CCDC39	339829	.	GRCh37	3	180381668	180381668	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	120	0	ENST00000442201.2:c.197T>G	p.Leu66Arg	p.L66R	ENST00000442201	NM_181426.1	66	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS46964.1	197	MUTECT|MUSE	.	TTGAGAGCTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.341)	.	deleterious(0)	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,missense_variant,p.Leu48Arg,ENST00000471307,;CCDC39,missense_variant,p.Leu150Arg,ENST00000273654,;CCDC39,missense_variant,p.Leu66Arg,ENST00000442201,;CCDC39,missense_variant,p.Leu66Arg,ENST00000476379,;	317	120	146	SUCCESS
ZCWPW2	152098	.	GRCh37	3	28566047	28566047	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	75	284	1	ENST00000383768.2:c.939A>T	p.Ala313=	p.A313=	ENST00000383768		313	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33723.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGGCAG	NONE	.	.	hmmpanther:PTHR15999:SF3,hmmpanther:PTHR15999	.	.	ENSP00000373278	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000383768	Transcript	.	.	ENSG00000206559	23574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCPW2_HUMAN	ZCWPW2	HGNC	C9JFK0_HUMAN	.	UPI0000161ABF	SNV	ZCWPW2,synonymous_variant,p.%3D,ENST00000383768,;ZCWPW2,synonymous_variant,p.%3D,ENST00000419130,;ZCWPW2,synonymous_variant,p.%3D,ENST00000421010,;ZCWPW2,intron_variant,,ENST00000457897,;	1127	285	300	SUCCESS
GOLGA4	2803	.	GRCh37	3	37366808	37366808	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758806004	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	115	197	0	ENST00000361924.2:c.3431A>G	p.Asn1144Ser	p.N1144S	ENST00000361924	NM_002078.4	1144	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS54564.1	3497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAATAAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	.	.	ENSP00000349305	.	15/23	.	.	.	.	.	.	.	.	rs758806004,COSM1753169	15/23	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	.	0,1	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,missense_variant,p.Asn1166Ser,ENST00000356847,;GOLGA4,missense_variant,p.Asn1144Ser,ENST00000361924,;GOLGA4,missense_variant,p.Asn1015Ser,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,downstream_gene_variant,,ENST00000435830,;GOLGA4,downstream_gene_variant,,ENST00000497537,;GOLGA4,upstream_gene_variant,,ENST00000498250,;	3796	197	211	SUCCESS
CLEC3B	7123	.	GRCh37	3	45072316	45072316	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	53	113	0	ENST00000296130.4:c.110-3C>A		p.X37_splice	ENST00000296130	NM_003278.2	37		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2726.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCAGATG	NONE	.	.	.	.	.	ENSP00000296130	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	LOW	1/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,splice_region_variant,,ENST00000296130,;CLEC3B,splice_region_variant,,ENST00000428034,;RNU5B-3P,downstream_gene_variant,,ENST00000516601,;CLEC3B,splice_region_variant,,ENST00000490386,;EXOSC7,intron_variant,,ENST00000481405,;	.	113	156	SUCCESS
BRPF1	7862	.	GRCh37	3	9776191	9776191	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762698085	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	62	75	0	ENST00000457855.1:c.367G>A	p.Glu123Lys	p.E123K	ENST00000457855		123	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33692.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGAGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF10513	.	.	ENSP00000373340	.	2/14	.	.	.	.	.	.	.	.	rs762698085	2/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Glu123Lys,ENST00000457855,;BRPF1,missense_variant,p.Glu123Lys,ENST00000424362,;BRPF1,missense_variant,p.Glu123Lys,ENST00000433861,;BRPF1,missense_variant,p.Glu123Lys,ENST00000383829,;BRPF1,missense_variant,p.Glu123Lys,ENST00000302054,;BRPF1,downstream_gene_variant,,ENST00000426583,;CPNE9,downstream_gene_variant,,ENST00000383832,;BRPF1,downstream_gene_variant,,ENST00000420291,;	771	75	103	SUCCESS
KIAA1239	0	.	GRCh37	4	37447823	37447823	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	40	0	ENST00000309447.5:c.4213A>C	p.Ile1405Leu	p.I1405L	ENST00000309447	NM_001144990.1	1405	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS47040.1	4213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGATTACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF82171	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	deleterious(0.05)	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,missense_variant,p.Ile1405Leu,ENST00000309447,;	5061	40	42	SUCCESS
MUC7	4589	.	GRCh37	4	71347032	71347032	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1308397960	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	183	370	0	ENST00000304887.5:c.571G>T	p.Ala191Ser	p.A191S	ENST00000304887	NM_152291.2	191	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3541.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGCCCCA	BUFFER|p.A191V|c.572C>T|4	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000407422	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000413702	Transcript	1	.	ENSG00000171195	7518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.12)	.	MUC7_HUMAN	MUC7	HGNC	D6RHX1_HUMAN	.	UPI000013E9DD	SNV	MUC7,missense_variant,p.Ala191Ser,ENST00000413702,;MUC7,missense_variant,p.Ala191Ser,ENST00000456088,;MUC7,missense_variant,p.Ala191Ser,ENST00000304887,;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;	859	371	258	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140741069	140741069	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	53	147	0	ENST00000522605.1:c.1367C>T	p.Ser456Phe	p.S456F	ENST00000522605	NM_018923.2	456	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS54924.1	1367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCCTACA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.06)	.	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,missense_variant,p.Ser456Phe,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	1367	147	122	SUCCESS
ARAP3	64411	.	GRCh37	5	141036086	141036086	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	77	0	ENST00000239440.4:c.3774G>T	p.Leu1258=	p.L1258=	ENST00000239440	NM_022481.5	1258	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4266.1	3774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000239440	.	27/33	.	.	.	.	.	.	.	.	.	27/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,synonymous_variant,p.%3D,ENST00000508305,;ARAP3,synonymous_variant,p.%3D,ENST00000239440,;ARAP3,synonymous_variant,p.%3D,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	3840	77	84	SUCCESS
GABRA1	2554	.	GRCh37	5	161318012	161318012	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	57	133	0	ENST00000023897.6:c.812C>T	p.Ser271Phe	p.S271F	ENST00000023897	NM_000806.5	271	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4357.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTCCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000393097	.	9/11	.	.	.	.	.	.	.	.	COSM3247904	9/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.761)	.	deleterious(0)	1	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Ser271Phe,ENST00000444819,;GABRA1,missense_variant,p.Ser271Phe,ENST00000420560,;GABRA1,missense_variant,p.Ser271Phe,ENST00000393943,;GABRA1,missense_variant,p.Ser271Phe,ENST00000023897,;GABRA1,missense_variant,p.Ser271Phe,ENST00000437025,;GABRA1,missense_variant,p.Ser271Phe,ENST00000428797,;GABRA1,downstream_gene_variant,,ENST00000519542,;	1167	133	136	SUCCESS
IL6ST	3572	.	GRCh37	5	55260049	55260057	+	inframe_deletion	In_Frame_Del	DEL	CAATGTTGA	CAATGTTGA	-	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	CAATGTTGA	CAATGTTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	174	99	242	0	ENST00000336909.5:c.575_583del	p.Val192_Ile194del	p.V192_I194del	ENST00000336909		192	gTCAACATTGaa/gaa	0	.	.	.	.	.	-	VNIE/E	protein_coding	YES	CCDS3971.1	575-583	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTTCAATGTTGACAAAA	BUFFER|p.S187_Y190delSTVY|c.560_571del12|3,BUFFER|p.Y186_Y190delYSTVY|c.557_571del15|3	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000522633,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000381287,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000336909,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000381298,;IL6ST,inframe_deletion,p.Ser50_Leu52del,ENST00000396816,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000536319,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000381294,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Val192_Ile194del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	888-896	242	273	SUCCESS
RASA1	5921	.	GRCh37	5	86637134	86637134	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	154	0	ENST00000274376.6:c.1045A>T	p.Lys349Ter	p.K349*	ENST00000274376	NM_002890.2	349	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS34200.1	1045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAAAAATG	NONE	.	.	hmmpanther:PTHR10194,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000274376	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,stop_gained,p.Lys182Ter,ENST00000512763,;RASA1,stop_gained,p.Lys172Ter,ENST00000456692,;RASA1,stop_gained,p.Lys349Ter,ENST00000274376,;RASA1,stop_gained,p.Lys183Ter,ENST00000506290,;RASA1,stop_gained,p.Lys349Ter,ENST00000515800,;RASA1,non_coding_transcript_exon_variant,,ENST00000509953,;	1609	154	133	SUCCESS
HDAC2	3066	.	GRCh37	6	114264582	114264582	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	62	169	0	ENST00000519065.1:c.1311T>A	p.Asp437Glu	p.D437E	ENST00000519065		437	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS43493.2	1311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGATCAGC	NONE	.	.	hmmpanther:PTHR10625:SF60,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037913	.	.	ENSP00000430432	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000519065	Transcript	.	.	ENSG00000196591	4853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.23)	.	HDAC2_HUMAN	HDAC2	HGNC	E5RK19_HUMAN,E5RJ04_HUMAN,E5RHE7_HUMAN,E5RH52_HUMAN,E5RGV4_HUMAN,E5RG37_HUMAN,E5RFI6_HUMAN,B3KRS5_HUMAN	.	UPI000020E11B	SNV	HDAC2,missense_variant,p.Asp531Glu,ENST00000398283,;HDAC2,missense_variant,p.Asp407Glu,ENST00000368632,;HDAC2,missense_variant,p.Asp437Glu,ENST00000519065,;HDAC2,missense_variant,p.Asp407Glu,ENST00000519108,;HDAC2,non_coding_transcript_exon_variant,,ENST00000523334,;HDAC2,downstream_gene_variant,,ENST00000520746,;	1688	169	175	SUCCESS
PRRT1	80863	.	GRCh37	6	32118206	32118206	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	10	0	ENST00000211413.5:c.497C>A	p.Pro166His	p.P166H	ENST00000211413	NM_030651.3	166	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4739.1	497	MUTECT|MUSE	.	ATCCGGGCGCT	NONE	.	.	hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF4	.	.	ENSP00000211413	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000211413	Transcript	.	.	ENSG00000204314	13943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.839)	.	deleterious_low_confidence(0)	.	PRRT1_HUMAN	PRRT1	HGNC	.	.	UPI000012FFED	SNV	PRRT1,missense_variant,p.Pro166His,ENST00000211413,;PRRT1,missense_variant,p.Pro85His,ENST00000375150,;PRRT1,missense_variant,p.Pro85His,ENST00000375152,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000324816,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PPT2,upstream_gene_variant,,ENST00000361568,;PRRT1,downstream_gene_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000445576,;PPT2,upstream_gene_variant,,ENST00000437001,;PRRT1,intron_variant,,ENST00000472641,;PPT2,upstream_gene_variant,,ENST00000493548,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,downstream_gene_variant,,ENST00000485392,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000494332,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,downstream_gene_variant,,ENST00000486917,;PRRT1,upstream_gene_variant,,ENST00000467780,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2,upstream_gene_variant,,ENST00000436118,;	622	10	30	SUCCESS
RXRB	6257	.	GRCh37	6	33165688	33165688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	39	97	0	ENST00000374680.3:c.671G>T	p.Gly224Val	p.G224V	ENST00000374680	NM_021976.4	224	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS59007.1	671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACCCTCA	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000363817	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	SNV	RXRB,missense_variant,p.Gly34Val,ENST00000544186,;RXRB,missense_variant,p.Gly128Val,ENST00000413614,;RXRB,missense_variant,p.Gly224Val,ENST00000374680,;RXRB,missense_variant,p.Gly224Val,ENST00000374685,;SLC39A7,upstream_gene_variant,,ENST00000374675,;SLC39A7,upstream_gene_variant,,ENST00000444757,;SLC39A7,upstream_gene_variant,,ENST00000374677,;RNY4P10,upstream_gene_variant,,ENST00000365571,;SLC39A7,upstream_gene_variant,,ENST00000463972,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,upstream_gene_variant,,ENST00000483821,;	809	98	175	SUCCESS
B3GAT2	135152	.	GRCh37	6	71603895	71603895	+	synonymous_variant	Silent	SNP	G	G	A	rs371527631	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	50	0	ENST00000230053.6:c.672C>T	p.Asn224=	p.N224=	ENST00000230053	NM_080742.2	224	aaC/aaT	0	C:0	.	.	.	.	A	N	protein_coding	YES	CCDS4974.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGTTTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10896:SF8,hmmpanther:PTHR10896,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448	.	C:0.0001	ENSP00000230053	.	2/4	.	.	.	.	.	.	.	.	rs371527631	2/4	PASS	ENST00000230053	Transcript	.	.	ENSG00000112309	922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GA2_HUMAN	B3GAT2	HGNC	A8K1V3_HUMAN	.	UPI000012670C	SNV	B3GAT2,synonymous_variant,p.%3D,ENST00000230053,;	1281	50	62	SUCCESS
PLXNA4	91584	.	GRCh37	7	132192587	132192587	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200648753	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	51	0	ENST00000321063.4:c.866C>T	p.Ala289Val	p.A289V	ENST00000321063	NM_020911.1	289	gCc/gTc	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS43646.1	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGCTGTG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	A:0.001	.	ENSP00000352882	A:0	2/32	.	.	.	.	.	.	.	.	rs200648753	2/32	PASS	ENST00000359827	Transcript	.	A:0.0002	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	A:0	deleterious(0.03)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Ala289Val,ENST00000321063,;PLXNA4,missense_variant,p.Ala289Val,ENST00000423507,;PLXNA4,missense_variant,p.Ala289Val,ENST00000359827,;PLXNA4,missense_variant,p.Ala289Val,ENST00000378539,;	1829	52	73	SUCCESS
ZNF777	27153	.	GRCh37	7	149152476	149152476	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201407206	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	137	0	ENST00000247930.4:c.638C>T	p.Thr213Met	p.T213M	ENST00000247930	NM_015694.2	213	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS43675.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGTCCTG	NONE	byCluster	.	hmmpanther:PTHR24402:SF204,hmmpanther:PTHR24402,Pfam_domain:PF12417	.	A:0.0002	ENSP00000247930	.	2/6	.	.	.	.	.	.	.	.	rs201407206	2/6	PASS	ENST00000247930	Transcript	.	.	ENSG00000196453	22213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.203)	.	tolerated(0.1)	.	ZN777_HUMAN	ZNF777	HGNC	Q3KR11_HUMAN	.	UPI0000E9B152	SNV	ZNF777,missense_variant,p.Thr213Met,ENST00000247930,;	962	137	139	SUCCESS
HECW1	23072	.	GRCh37	7	43484350	43484350	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	48	0	ENST00000395891.2:c.1579T>A	p.Ser527Thr	p.S527T	ENST00000395891	NM_015052.3	527	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS5469.2	1579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTCGGTG	NONE	.	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.42)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Ser527Thr,ENST00000453890,;HECW1,missense_variant,p.Ser527Thr,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2184	48	62	SUCCESS
MYO1G	64005	.	GRCh37	7	45005391	45005391	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	16	0	ENST00000258787.7:c.2226G>A	p.Trp742Ter	p.W742*	ENST00000258787	NM_033054.2	742	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS34629.1	2226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAACCAGCG	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359,Superfamily_domains:SSF52540	.	.	ENSP00000258787	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000258787	Transcript	.	.	ENSG00000136286	13880	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO1G_HUMAN	MYO1G	HGNC	.	.	UPI00001D747C	SNV	MYO1G,stop_gained,p.Trp742Ter,ENST00000258787,;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,downstream_gene_variant,,ENST00000464434,;MYO1G,downstream_gene_variant,,ENST00000480503,;	2363	16	21	SUCCESS
ASNS	440	.	GRCh37	7	97498423	97498423	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	53	190	0	ENST00000175506.4:c.46G>C	p.Val16Leu	p.V16L	ENST00000175506	NM_183356.3	16	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS5652.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACAGAAA	NONE	.	.	PROSITE_profiles:PS51278,hmmpanther:PTHR11772:SF5,hmmpanther:PTHR11772,TIGRFAM_domain:TIGR01536,Gene3D:3.60.20.10,PIRSF_domain:PIRSF001589,Superfamily_domains:SSF56235	.	.	ENSP00000175506	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000175506	Transcript	.	.	ENSG00000070669	753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.72)	.	ASNS_HUMAN	ASNS	HGNC	C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN	.	UPI0000169F55	SNV	ASNS,missense_variant,p.Val16Leu,ENST00000448127,;ASNS,missense_variant,p.Val16Leu,ENST00000394309,;ASNS,missense_variant,p.Val16Leu,ENST00000414884,;ASNS,missense_variant,p.Val16Leu,ENST00000442734,;ASNS,missense_variant,p.Val16Leu,ENST00000175506,;ASNS,missense_variant,p.Val16Leu,ENST00000437657,;ASNS,missense_variant,p.Val16Leu,ENST00000394308,;ASNS,missense_variant,p.Val16Leu,ENST00000451771,;ASNS,splice_region_variant,,ENST00000453600,;ASNS,splice_region_variant,,ENST00000444334,;ASNS,splice_region_variant,,ENST00000422745,;ASNS,intron_variant,,ENST00000437628,;ASNS,intron_variant,,ENST00000455086,;ASNS,missense_variant,p.Val16Leu,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000495255,;AC079781.5,upstream_gene_variant,,ENST00000429197,;	575	190	170	SUCCESS
CSMD3	114788	.	GRCh37	8	113662399	113662399	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1275626732	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	265	79	134	0	ENST00000297405.5:c.3184A>G	p.Thr1062Ala	p.T1062A	ENST00000297405	NM_198123.1	1062	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6315.1	3184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTTGGAA	NONE	.	.	PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	19/71	.	.	.	.	.	.	.	.	COSM3698791,COSM1454288,COSM1454289,COSM3698792	19/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	possibly_damaging(0.641)	.	tolerated(0.08)	1,1,1,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Thr1062Ala,ENST00000352409,;CSMD3,missense_variant,p.Thr958Ala,ENST00000455883,;CSMD3,missense_variant,p.Thr1062Ala,ENST00000297405,;CSMD3,missense_variant,p.Thr402Ala,ENST00000339701,;CSMD3,missense_variant,p.Thr1022Ala,ENST00000343508,;	3429	134	345	SUCCESS
TRPS1	7227	.	GRCh37	8	116616801	116616801	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	59	104	0	ENST00000220888.5:c.1356A>T	p.Leu452=	p.L452=	ENST00000220888		452	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6318.2	1395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTAGCAG	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00355,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,synonymous_variant,p.%3D,ENST00000520276,;TRPS1,synonymous_variant,p.%3D,ENST00000220888,;TRPS1,synonymous_variant,p.%3D,ENST00000395715,;TRPS1,synonymous_variant,p.%3D,ENST00000519674,;TRPS1,intron_variant,,ENST00000517323,;TRPS1,intron_variant,,ENST00000519076,;	1973	104	231	SUCCESS
OC90	729330	.	GRCh37	8	133053841	133053841	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372434452	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	70	125	0	ENST00000254627.3:c.275G>T	p.Arg92Leu	p.R92L	ENST00000254627	NM_001080399.2	92	cGa/cTa	0	T:0.0003	.	.	.	.	A	R/L	protein_coding	YES	CCDS47919.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTCGGGGG	CODON|p.R288Q|c.863G>A|3,CODON|p.R98Q|c.293G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11716:SF1,hmmpanther:PTHR11716,Pfam_domain:PF00068,Gene3D:1.20.90.10,SMART_domains:SM00085,Superfamily_domains:SSF48619	.	T:0	ENSP00000473802	.	5/14	.	.	.	.	.	.	.	.	rs372434452,COSM3374779,COSM3374778	5/14	PASS	ENST00000603859	Transcript	.	.	ENSG00000258417	8100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	.	OC90	Uniprot_gn	.	.	UPI000192B908	SNV	OC90,missense_variant,p.Arg288Leu,ENST00000262283,;OC90,missense_variant,p.Arg92Leu,ENST00000603859,;OC90,missense_variant,p.Arg92Leu,ENST00000254627,;OC90,missense_variant,p.Arg92Leu,ENST00000443356,;	362	125	212	SUCCESS
MVB12B	89853	.	GRCh37	9	129157873	129157873	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	52	114	1	ENST00000361171.3:c.559A>G	p.Ile187Val	p.I187V	ENST00000361171	NM_033446.2	187	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS35142.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGATCTGG	NONE	.	.	PROSITE_profiles:PS51498,hmmpanther:PTHR31547:SF1,hmmpanther:PTHR31547,Pfam_domain:PF10240	.	.	ENSP00000354772	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000361171	Transcript	.	.	ENSG00000196814	23368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated(0.11)	.	MB12B_HUMAN	MVB12B	HGNC	Q9H7N7_HUMAN	.	UPI00001C1EBC	SNV	MVB12B,missense_variant,p.Ile172Val,ENST00000402437,;MVB12B,missense_variant,p.Ile180Val,ENST00000535766,;MVB12B,missense_variant,p.Ile172Val,ENST00000436593,;MVB12B,missense_variant,p.Ile187Val,ENST00000545391,;MVB12B,missense_variant,p.Ile187Val,ENST00000361171,;MVB12B,non_coding_transcript_exon_variant,,ENST00000489637,;MVB12B,upstream_gene_variant,,ENST00000470567,;	640	116	150	SUCCESS
LCN2	3934	.	GRCh37	9	130912582	130912582	+	synonymous_variant	Silent	SNP	G	G	A	rs775328996	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	101	151	0	ENST00000277480.2:c.204G>A	p.Pro68=	p.P68=	ENST00000277480	NM_005564.3	68	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6892.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGCAAAA	NONE	.	.	hmmpanther:PTHR11430:SF13,hmmpanther:PTHR11430,Pfam_domain:PF00061,Gene3D:2.40.128.20,Superfamily_domains:SSF50814	.	.	ENSP00000362108	.	3/7	.	.	.	.	.	.	.	.	rs775328996	3/7	PASS	ENST00000373017	Transcript	.	.	ENSG00000148346	6526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGAL_HUMAN	LCN2	HGNC	.	.	UPI000012FFEF	SNV	LCN2,synonymous_variant,p.%3D,ENST00000373013,;LCN2,synonymous_variant,p.%3D,ENST00000373017,;LCN2,synonymous_variant,p.%3D,ENST00000277480,;LCN2,synonymous_variant,p.%3D,ENST00000540948,;LCN2,synonymous_variant,p.%3D,ENST00000372998,;LCN2,intron_variant,,ENST00000470902,;LCN2,upstream_gene_variant,,ENST00000494317,;LCN2,intron_variant,,ENST00000487719,;LCN2,upstream_gene_variant,,ENST00000488391,;	441	151	212	SUCCESS
C9orf96	0	.	GRCh37	9	136269044	136269044	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	28	0	ENST00000371957.3:c.1604G>T	p.Gly535Val	p.G535V	ENST00000371957	NM_153710.4	535	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS35169.1	1604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCTGCA	NONE	.	.	hmmpanther:PTHR24363:SF3,hmmpanther:PTHR24363,Superfamily_domains:SSF48371	.	.	ENSP00000361025	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000371957	Transcript	.	.	ENSG00000198870	28669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SGK71_HUMAN	C9orf96	HGNC	.	.	UPI00001D763E	SNV	C9orf96,missense_variant,p.Gly68Val,ENST00000371955,;C9orf96,missense_variant,p.Gly535Val,ENST00000371957,;REXO4,downstream_gene_variant,,ENST00000371935,;REXO4,downstream_gene_variant,,ENST00000454825,;REXO4,downstream_gene_variant,,ENST00000371942,;	1711	28	47	SUCCESS
SLC34A3	142680	.	GRCh37	9	140127320	140127320	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1161944832	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	36	0	ENST00000361134.2:c.389C>T	p.Ala130Val	p.A130V	ENST00000361134	NM_080877.2	130	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7038.1	389	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCCTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF22,Pfam_domain:PF02690,TIGRFAM_domain:TIGR01013	.	.	ENSP00000442397	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000538474	Transcript	.	.	ENSG00000198569	20305	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	NPT2C_HUMAN	SLC34A3	HGNC	D9N3A0_HUMAN	.	UPI00004577EA	SNV	SLC34A3,missense_variant,p.Ala130Val,ENST00000361134,;SLC34A3,missense_variant,p.Ala130Val,ENST00000538474,;RNF224,downstream_gene_variant,,ENST00000445101,;	613	36	47	SUCCESS
OGN	4969	.	GRCh37	9	95155366	95155366	+	splice_donor_variant	Splice_Site	SNP	A	A	T	rs755752503	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	108	220	1	ENST00000262551.4:c.427+2T>A		p.X143_splice	ENST00000262551	NM_033014.2	143		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6695.1	.	RADIA|VARSCANS	.	AACTTACGTAT	NONE	.	.	.	.	.	ENSP00000262551	.	.	.	.	.	.	.	.	.	.	rs755752503	.	PASS	ENST00000262551	Transcript	.	.	ENSG00000106809	8126	.	.	HIGH	4/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MIME_HUMAN	OGN	HGNC	A8K0R3_HUMAN	.	UPI00000540ED	SNV	OGN,splice_donor_variant,,ENST00000447356,;OGN,splice_donor_variant,,ENST00000375561,;OGN,splice_donor_variant,,ENST00000262551,;CENPP,intron_variant,,ENST00000375587,;OGN,splice_donor_variant,,ENST00000468743,;	.	222	246	SUCCESS
RAB40A	142684	.	GRCh37	X	102755566	102755566	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	94	189	0	ENST00000304236.1:c.119A>T	p.Glu40Val	p.E40V	ENST00000304236	NM_080879.2	40	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS35357.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACTCAGCT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF442,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000361716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372633	Transcript	.	.	ENSG00000172476	18283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.07)	.	RB40A_HUMAN	RAB40A	HGNC	.	.	UPI000013E953	SNV	RAB40A,missense_variant,p.Glu40Val,ENST00000304236,;RAB40A,missense_variant,p.Glu40Val,ENST00000372633,;LL0XNC01-250H12.3,downstream_gene_variant,,ENST00000445990,;	2238	189	242	SUCCESS
FAM45B	0	.	GRCh37	X	129629661	129629666	+	non_coding_transcript_exon_variant	RNA	DEL	CTGATG	CTGATG	-	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	CTGATG	CTGATG	.	.	.	.	.	.	.	.	.	.	.	.	.	235	71	248	0	ENST00000592932.1:n.725_730del		p.*242*	ENST00000592932				0	.	.	.	.	.	-	.	lincRNA	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGCACTGATGCTAAA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458525	Transcript	.	.	ENSG00000229702	.	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP1-274L7.1	Clone_based_vega_gene	.	.	.	deletion	RP1-274L7.1,intron_variant,,ENST00000458525,;FAM45B,non_coding_transcript_exon_variant,,ENST00000592932,;FAM45B,non_coding_transcript_exon_variant,,ENST00000408950,;FAM45B,non_coding_transcript_exon_variant,,ENST00000539800,;	.	248	306	SUCCESS
FRMD7	90167	.	GRCh37	X	131212315	131212315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752045112	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	102	178	0	ENST00000298542.4:c.1730C>T	p.Ala577Val	p.A577V	ENST00000298542	NM_194277.2	577	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS35397.1	1730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGCATCT	NONE	byFrequency	.	.	.	.	ENSP00000298542	.	12/12	.	.	.	.	.	.	.	.	rs752045112	12/12	PASS	ENST00000298542	Transcript	.	.	ENSG00000165694	8079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.24)	.	FRMD7_HUMAN	FRMD7	HGNC	.	.	UPI00001C0AED	SNV	FRMD7,missense_variant,p.Ala562Val,ENST00000464296,;FRMD7,missense_variant,p.Ala457Val,ENST00000370879,;FRMD7,missense_variant,p.Ala577Val,ENST00000298542,;MST4,downstream_gene_variant,,ENST00000394334,;MST4,downstream_gene_variant,,ENST00000496850,;MST4,downstream_gene_variant,,ENST00000481105,;MST4,downstream_gene_variant,,ENST00000394335,;MST4,downstream_gene_variant,,ENST00000354719,;	1906	179	224	SUCCESS
GPR64	0	.	GRCh37	X	19017392	19017392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	18	130	0	ENST00000379869.3:c.2336G>T	p.Trp779Leu	p.W779L	ENST00000379869	NM_001079858.2	779	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS43923.1	2336	MUTECT|MUSE|VARSCANS	.	TGATCCAGCAG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000369198	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000379869	Transcript	.	.	ENSG00000173698	4516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GPR64_HUMAN	GPR64	HGNC	.	.	UPI000021246C	SNV	GPR64,missense_variant,p.Trp660Leu,ENST00000340581,;GPR64,missense_variant,p.Trp749Leu,ENST00000357544,;GPR64,missense_variant,p.Trp779Leu,ENST00000379869,;GPR64,missense_variant,p.Trp757Leu,ENST00000360279,;GPR64,missense_variant,p.Trp763Leu,ENST00000379878,;GPR64,missense_variant,p.Trp755Leu,ENST00000379876,;GPR64,missense_variant,p.Trp779Leu,ENST00000379873,;GPR64,missense_variant,p.Trp776Leu,ENST00000357991,;GPR64,missense_variant,p.Trp765Leu,ENST00000356606,;GPR64,missense_variant,p.Trp763Leu,ENST00000354791,;	2500	130	185	SUCCESS
RLIM	51132	.	GRCh37	X	73811891	73811891	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	82	137	0	ENST00000332687.6:c.1259T>A	p.Met420Lys	p.M420K	ENST00000332687	NM_016120.3	420	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS14427.1	1259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACATAAAA	NONE	.	.	hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	.	.	ENSP00000328059	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332687	Transcript	.	.	ENSG00000131263	13429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	RNF12_HUMAN	RLIM	HGNC	.	.	UPI000006FD6A	SNV	RLIM,missense_variant,p.Met420Lys,ENST00000349225,;RLIM,missense_variant,p.Met420Lys,ENST00000332687,;	1478	137	175	SUCCESS
CYLC1	1538	.	GRCh37	X	83128877	83128877	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	93	164	0	ENST00000329312.4:c.1161G>T	p.Leu387Phe	p.L387F	ENST00000329312	NM_021118.2	387	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS35341.1	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTGAAGAA	NONE	.	.	hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.05)	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Leu387Phe,ENST00000329312,;	1198	164	178	SUCCESS
STAM	8027	.	GRCh37	10	17686236	17686236	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs782490692	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	37	0	ENST00000377524.3:c.-103C>T		p.*35*	ENST00000377524	NM_003473.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7122.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTCTCTGT	NONE	.	.	.	.	.	ENSP00000366746	.	1/14	.	.	.	.	.	.	.	.	rs782490692	1/14	PASS	ENST00000377524	Transcript	.	.	ENSG00000136738	11357	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAM1_HUMAN	STAM	HGNC	C9J1E5_HUMAN,B4DZT2_HUMAN,A6NMU3_HUMAN	.	UPI000006E278	SNV	STAM,5_prime_UTR_variant,,ENST00000377524,;STAM,5_prime_UTR_variant,,ENST00000377500,;STAM,upstream_gene_variant,,ENST00000540523,;RP11-390B4.5,upstream_gene_variant,,ENST00000563601,;STAM,5_prime_UTR_variant,,ENST00000445846,;	113	37	27	SUCCESS
EPC1	80314	.	GRCh37	10	32582635	32582635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	30	186	0	ENST00000263062.8:c.344A>G	p.Tyr115Cys	p.Y115C	ENST00000263062	NM_025209.3	115	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7172.1	344	RADIA|MUTECT|MUSE|VARSCANS	.	AATCATAATCA	NONE	.	.	hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF3,Pfam_domain:PF10513	.	.	ENSP00000263062	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000263062	Transcript	.	.	ENSG00000120616	19876	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EPC1_HUMAN	EPC1	HGNC	Q68DJ2_HUMAN	.	UPI000006F77F	SNV	EPC1,missense_variant,p.Tyr115Cys,ENST00000319778,;EPC1,missense_variant,p.Tyr65Cys,ENST00000375110,;EPC1,missense_variant,p.Tyr115Cys,ENST00000263062,;EPC1,non_coding_transcript_exon_variant,,ENST00000495790,;	614	186	238	SUCCESS
GRIA4	2893	.	GRCh37	11	105842667	105842667	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	35	143	0	ENST00000282499.5:c.2321A>C	p.Lys774Thr	p.K774T	ENST00000282499	NM_000829.3	774	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS8333.1	2321	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAAACTCA	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	tolerated(0.11)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Lys774Thr,ENST00000282499,;GRIA4,missense_variant,p.Lys774Thr,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,;GRIA4,intron_variant,,ENST00000525187,;RNU6-277P,downstream_gene_variant,,ENST00000516272,;GRIA4,intron_variant,,ENST00000533094,;GRIA4,missense_variant,p.Glu102Asp,ENST00000525942,;	2767	143	177	SUCCESS
ST14	6768	.	GRCh37	11	130067803	130067803	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	39	0	ENST00000278742.5:c.1422G>T	p.Trp474Cys	p.W474C	ENST00000278742	NM_021978.3	474	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS8487.1	1422	RADIA|VARSCANS	.	GGCTGGGCCGA	NONE	.	.	Prints_domain:PR00261,Superfamily_domains:SSF57424,SMART_domains:SM00192,PIRSF_domain:PIRSF036370,Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,PROSITE_profiles:PS50068	.	.	ENSP00000278742	.	12/19	.	.	.	.	.	.	.	.	.	12/19	oxog	ENST00000278742	Transcript	.	.	ENSG00000149418	11344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ST14_HUMAN	ST14	HGNC	Q8WVC1_HUMAN	.	UPI00000012E9	SNV	ST14,missense_variant,p.Trp474Cys,ENST00000278742,;ST14,downstream_gene_variant,,ENST00000530376,;ST14,downstream_gene_variant,,ENST00000524718,;ST14,downstream_gene_variant,,ENST00000530532,;	1840	39	56	SUCCESS
FNBP4	23360	.	GRCh37	11	47744730	47744730	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	33	193	1	ENST00000263773.5:c.2603C>A	p.Ala868Glu	p.A868E	ENST00000263773	NM_015308.2	868	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS41644.1	2603	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGCTGCC	NONE	.	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186	.	.	ENSP00000263773	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000263773	Transcript	.	.	ENSG00000109920	19752	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.219)	.	deleterious_low_confidence(0)	.	FNBP4_HUMAN	FNBP4	HGNC	.	.	UPI0000DBEF37	SNV	FNBP4,missense_variant,p.Ala868Glu,ENST00000263773,;snoU13,upstream_gene_variant,,ENST00000516638,;Y_RNA,downstream_gene_variant,,ENST00000363220,;FNBP4,non_coding_transcript_exon_variant,,ENST00000532646,;FNBP4,intron_variant,,ENST00000526109,;FNBP4,downstream_gene_variant,,ENST00000531394,;FNBP4,downstream_gene_variant,,ENST00000525792,;FNBP4,non_coding_transcript_exon_variant,,ENST00000530207,;	2616	194	197	SUCCESS
OR5D13	390142	.	GRCh37	11	55541610	55541610	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757388285	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	16	152	0	ENST00000361760.1:c.697G>A	p.Ala233Thr	p.A233T	ENST00000361760	NM_001001967.1	233	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31507.1	697	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGCAAGT	BUFFER|p.R231Q|c.692G>A|8,BUFFER|p.R236C|c.706C>T|5,BUFFER|p.R236H|c.707G>A|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354800	.	1/1	.	.	.	.	.	.	.	.	rs757388285	1/1	PASS	ENST00000361760	Transcript	.	.	ENSG00000198877	15280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.55)	.	OR5DD_HUMAN	OR5D13	HGNC	.	.	UPI0000041C36	SNV	OR5D13,missense_variant,p.Ala233Thr,ENST00000361760,;	697	152	165	SUCCESS
BTBD18	643376	.	GRCh37	11	57512606	57512606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	7	82	0	ENST00000422652.1:c.1139C>A	p.Thr380Asn	p.T380N	ENST00000422652	NM_001145101.1	380	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS44603.1	1139	MUTECT|MUSE	.	CTTGAGTGTTT	NONE	.	.	.	.	.	ENSP00000394472	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422652	Transcript	.	.	ENSG00000233436	37214	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.05)	.	BTBDI_HUMAN	BTBD18	HGNC	E9PRF5_HUMAN	.	UPI00006C113A	SNV	BTBD18,missense_variant,p.Thr380Asn,ENST00000436147,;BTBD18,missense_variant,p.Thr380Asn,ENST00000422652,;C11orf31,downstream_gene_variant,,ENST00000534355,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;C11orf31,downstream_gene_variant,,ENST00000528798,;C11orf31,downstream_gene_variant,,ENST00000388857,;TMX2,downstream_gene_variant,,ENST00000278422,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,intron_variant,,ENST00000531074,;C11orf31,downstream_gene_variant,,ENST00000533321,;C11orf31,downstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000528110,;TMX2,downstream_gene_variant,,ENST00000530114,;TMX2,downstream_gene_variant,,ENST00000529403,;	1428	82	96	SUCCESS
FAM111B	374393	.	GRCh37	11	58893210	58893210	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs756044805	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	86	0	ENST00000343597.3:c.1640T>G	p.Ile547Ser	p.I547S	ENST00000343597	NM_198947.3	547	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS7972.1	1640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATTTTAA	NONE	.	.	hmmpanther:PTHR14389:SF4,hmmpanther:PTHR14389,Gene3D:2.40.10.10,Pfam_domain:PF13365,Superfamily_domains:SSF50494	.	.	ENSP00000341565	.	4/4	.	.	.	.	.	.	.	.	rs756044805	4/4	PASS	ENST00000343597	Transcript	.	.	ENSG00000189057	24200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	F111B_HUMAN	FAM111B	HGNC	E9PS27_HUMAN	.	UPI00001D77B8	SNV	FAM111B,missense_variant,p.Ile517Ser,ENST00000411426,;FAM111B,missense_variant,p.Ile547Ser,ENST00000343597,;FAM111B,missense_variant,p.Ile517Ser,ENST00000529618,;FAM111B,downstream_gene_variant,,ENST00000534403,;AP001258.4,downstream_gene_variant,,ENST00000501817,;	1831	86	64	SUCCESS
MYRF	745	.	GRCh37	11	61537931	61537931	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs961109026	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	38	215	0	ENST00000278836.5:c.674C>T	p.Pro225Leu	p.P225L	ENST00000278836	NM_001127392.1	225	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44622.1	674	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCCACTG	NONE	.	.	hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16	.	.	ENSP00000278836	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000278836	Transcript	.	.	ENSG00000124920	1181	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MRF_HUMAN	MYRF	HGNC	.	.	UPI0000D45F7B	SNV	MYRF,missense_variant,p.Pro225Leu,ENST00000278836,;MYRF,missense_variant,p.Pro216Leu,ENST00000265460,;MYRF,upstream_gene_variant,,ENST00000327797,;TMEM258,intron_variant,,ENST00000535042,;MYRF,downstream_gene_variant,,ENST00000537766,;	770	215	285	SUCCESS
RELT	84957	.	GRCh37	11	73104879	73104879	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	8	89	0	ENST00000064780.2:c.626-3C>T		p.X209_splice	ENST00000064780	NM_152222.1	209		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8222.1	.	MUTECT|VARSCANS	.	TTCCCCAGGAA	NONE	.	.	.	.	.	ENSP00000064780	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000064780	Transcript	.	.	ENSG00000054967	13764	.	.	LOW	6/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TR19L_HUMAN	RELT	HGNC	F5H2T5_HUMAN	.	UPI000003C9E6	SNV	RELT,splice_region_variant,,ENST00000064780,;RELT,splice_region_variant,,ENST00000393580,;RELT,downstream_gene_variant,,ENST00000545687,;RP11-809N8.2,downstream_gene_variant,,ENST00000544674,;RELT,splice_region_variant,,ENST00000544075,;RELT,non_coding_transcript_exon_variant,,ENST00000537771,;RELT,non_coding_transcript_exon_variant,,ENST00000545886,;RELT,non_coding_transcript_exon_variant,,ENST00000539134,;	.	89	92	SUCCESS
FAT3	120114	.	GRCh37	11	92085831	92085831	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	96	0	ENST00000298047.6:c.553G>T	p.Ala185Ser	p.A185S	ENST00000298047		185	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	553	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGCAGAT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	1/27	.	.	.	.	.	.	.	.	COSM933025,COSM933024	1/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(1)	.	.	1,1	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ala185Ser,ENST00000541502,;FAT3,missense_variant,p.Ala185Ser,ENST00000298047,;FAT3,missense_variant,p.Ala185Ser,ENST00000409404,;FAT3,missense_variant,p.Ala35Ser,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	570	96	78	SUCCESS
GOLGA3	2802	.	GRCh37	12	133358985	133358985	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs79085716	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	291	55	338	0	ENST00000204726.3:c.3362T>G	p.Leu1121Arg	p.L1121R	ENST00000204726	NM_005895.3	1121	cTt/cGt	0	.	C:0	.	C:0	.	C	L/R	protein_coding	YES	CCDS9281.1	3362	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTAAGCTTC	NONE	byFrequency|byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902	C:0.003	.	ENSP00000204726	C:0	17/24	.	.	.	.	.	.	.	.	rs79085716	17/24	PASS	ENST00000204726	Transcript	.	C:0.0006	ENSG00000090615	4426	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	C:0	deleterious(0)	.	GOGA3_HUMAN	GOLGA3	HGNC	.	.	UPI0000190979	SNV	GOLGA3,missense_variant,p.Leu1121Arg,ENST00000204726,;GOLGA3,missense_variant,p.Leu1121Arg,ENST00000450791,;GOLGA3,missense_variant,p.Leu1121Arg,ENST00000456883,;GOLGA3,downstream_gene_variant,,ENST00000537452,;GOLGA3,downstream_gene_variant,,ENST00000545875,;	3921	338	347	SUCCESS
SLCO1A2	6579	.	GRCh37	12	21445184	21445184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	56	0	ENST00000307378.6:c.1524G>T	p.Leu508Phe	p.L508F	ENST00000307378	NM_134431.3	508	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS8686.1	1524	MUTECT|VARSCANS	.	AGCATCAAGGA	NONE	.	.	TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Gene3D:1.20.1250.20,hmmpanther:PTHR11388:SF16,hmmpanther:PTHR11388,PROSITE_profiles:PS50850	.	.	ENSP00000305974	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000307378	Transcript	.	.	ENSG00000084453	10956	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.126)	.	tolerated(0.08)	.	SO1A2_HUMAN	SLCO1A2	HGNC	C9K059_HUMAN,C9JUW6_HUMAN,C9JTF6_HUMAN,C9JHU9_HUMAN,C9JGK7_HUMAN,C9JG34_HUMAN,C9JCA7_HUMAN,B4DJE6_HUMAN	.	UPI0000037575	SNV	SLCO1A2,missense_variant,p.Leu506Phe,ENST00000390670,;SLCO1A2,missense_variant,p.Leu508Phe,ENST00000307378,;SLCO1A2,missense_variant,p.Leu376Phe,ENST00000537524,;SLCO1A2,missense_variant,p.Leu508Phe,ENST00000452078,;SLCO1A2,missense_variant,p.Leu376Phe,ENST00000458504,;SLCO1A2,3_prime_UTR_variant,,ENST00000544020,;SLCO1A2,3_prime_UTR_variant,,ENST00000544290,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000480394,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000463718,;	2245	56	60	SUCCESS
DENND5B	160518	.	GRCh37	12	31605091	31605092	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	203	42	168	0	ENST00000389082.5:c.1411dup	p.Met471AsnfsTer9	p.M471Nfs*9	ENST00000389082	NM_144973.3	471	atg/aAtg	0	.	.	.	.	.	T	M/NX	protein_coding	YES	CCDS44857.1	1411-1412	VARSCANI*|PINDEL	.	GGTCCATTTTT	NONE	.	.	hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877	.	.	ENSP00000373734	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	insertion	DENND5B,frameshift_variant,p.Met423AsnfsTer9,ENST00000546299,;DENND5B,frameshift_variant,p.Met506AsnfsTer9,ENST00000536562,;DENND5B,frameshift_variant,p.Met506AsnfsTer9,ENST00000306833,;DENND5B,frameshift_variant,p.Met471AsnfsTer9,ENST00000389082,;DENND5B,frameshift_variant,p.Met493AsnfsTer9,ENST00000354285,;snoU13,downstream_gene_variant,,ENST00000458765,;	1676-1677	168	245	SUCCESS
TMBIM6	7009	.	GRCh37	12	50152248	50152248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	20	181	0	ENST00000267115.5:c.418T>C	p.Tyr140His	p.Y140H	ENST00000267115	NM_003217.2	140	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS44875.1	592	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCTACCTC	NONE	.	.	hmmpanther:PTHR23291:SF4,hmmpanther:PTHR23291,Pfam_domain:PF01027	.	.	ENSP00000389277	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000423828	Transcript	.	.	ENSG00000139644	11723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.18)	.	tolerated(0.09)	.	.	TMBIM6	HGNC	F8W201_HUMAN,F8W1V3_HUMAN,F8W086_HUMAN,F8W034_HUMAN,F8VX73_HUMAN,F8VVJ4_HUMAN,F8VSI7_HUMAN,F8VQW0_HUMAN,F8VQQ5_HUMAN,F8VPZ7_HUMAN,F8VPI1_HUMAN	.	UPI00015367D1	SNV	TMBIM6,missense_variant,p.Tyr198His,ENST00000423828,;TMBIM6,missense_variant,p.Tyr198His,ENST00000552699,;TMBIM6,missense_variant,p.Tyr140His,ENST00000267115,;TMBIM6,missense_variant,p.Tyr140His,ENST00000550445,;TMBIM6,missense_variant,p.Tyr140His,ENST00000395006,;TMBIM6,missense_variant,p.Tyr140His,ENST00000546796,;TMBIM6,missense_variant,p.Tyr140His,ENST00000552370,;TMBIM6,missense_variant,p.Tyr103His,ENST00000547798,;TMBIM6,missense_variant,p.Tyr140His,ENST00000549385,;TMBIM6,downstream_gene_variant,,ENST00000549966,;TMBIM6,downstream_gene_variant,,ENST00000546914,;TMBIM6,downstream_gene_variant,,ENST00000547187,;TMBIM6,downstream_gene_variant,,ENST00000549130,;TMBIM6,downstream_gene_variant,,ENST00000548201,;TMBIM6,downstream_gene_variant,,ENST00000547832,;TMBIM6,downstream_gene_variant,,ENST00000549445,;TMBIM6,3_prime_UTR_variant,,ENST00000552635,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000547013,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000553022,;TMBIM6,upstream_gene_variant,,ENST00000549471,;TMBIM6,upstream_gene_variant,,ENST00000550040,;	920	181	181	SUCCESS
NTF3	4908	.	GRCh37	12	5603521	5603521	+	synonymous_variant	Silent	SNP	G	G	A	rs1326532997	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	56	0	ENST00000331010.6:c.141G>A	p.Lys47=	p.K47=	ENST00000331010	NM_002527.4	47	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS44806.1	180	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGCTCTC	NONE	.	.	Prints_domain:PR01914,PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589:SF4,hmmpanther:PTHR11589	.	.	ENSP00000397297	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423158	Transcript	.	.	ENSG00000185652	8023	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTF3_HUMAN	NTF3	HGNC	.	.	UPI0000D4F126	SNV	NTF3,synonymous_variant,p.%3D,ENST00000331010,;NTF3,synonymous_variant,p.%3D,ENST00000423158,;NTF3,non_coding_transcript_exon_variant,,ENST00000543548,;NTF3,intron_variant,,ENST00000535299,;	392	56	50	SUCCESS
IKBIP	121457	.	GRCh37	12	99019886	99019886	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	311	65	502	0	ENST00000342502.2:c.297+8188T>C		p.*99*	ENST00000342502	NM_201612.2	319		0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS9068.1	956	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCATTATT	NONE	.	.	hmmpanther:PTHR21734	.	.	ENSP00000299157	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000299157	Transcript	.	.	ENSG00000166130	26430	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.122)	.	tolerated(0.13)	.	IKIP_HUMAN	IKBIP	HGNC	.	.	UPI0000070C12	SNV	IKBIP,missense_variant,p.Met319Thr,ENST00000299157,;IKBIP,intron_variant,,ENST00000342502,;IKBIP,intron_variant,,ENST00000393042,;IKBIP,intron_variant,,ENST00000420861,;	1330	503	376	SUCCESS
FLT1	2321	.	GRCh37	13	28883065	28883065	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	67	0	ENST00000282397.4:c.3636-1G>C		p.X1212_splice	ENST00000282397	NM_002019.4	1212		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9330.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGTATCTAATG	NONE	.	.	.	.	.	ENSP00000282397	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	HIGH	27/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,splice_acceptor_variant,,ENST00000543394,;FLT1,splice_acceptor_variant,,ENST00000540678,;FLT1,splice_acceptor_variant,,ENST00000282397,;	.	67	58	SUCCESS
DACH1	1602	.	GRCh37	13	72204825	72204825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	90	0	ENST00000305425.4:c.995C>A	p.Ala332Asp	p.A332D	ENST00000305425	NM_080759.4	332	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS41899.1	995	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577	.	.	ENSP00000304994	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,missense_variant,p.Ala332Asp,ENST00000305425,;DACH1,missense_variant,p.Ala332Asp,ENST00000313174,;DACH1,missense_variant,p.Ala332Asp,ENST00000359684,;DACH1,intron_variant,,ENST00000354591,;	1418	90	110	SUCCESS
ATG14	22863	.	GRCh37	14	55848812	55848812	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	283	78	388	0	ENST00000247178.5:c.745C>T	p.Arg249Ter	p.R249*	ENST00000247178	NM_014924.4	249	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS32087.1	745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCGTCCTG	NONE	.	.	hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0,Pfam_domain:PF10186	.	.	ENSP00000247178	.	6/10	.	.	.	.	.	.	.	.	COSM4051361	6/10	PASS	ENST00000247178	Transcript	.	.	ENSG00000126775	19962	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BAKOR_HUMAN	ATG14	HGNC	.	.	UPI00001FD5B2	SNV	ATG14,stop_gained,p.Arg249Ter,ENST00000247178,;ATG14,non_coding_transcript_exon_variant,,ENST00000558189,;	781	388	361	SUCCESS
RPL13AP3	645683	.	GRCh37	14	56233027	56233027	+	non_coding_transcript_exon_variant	RNA	DEL	G	G	-	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	34	0	ENST00000494676.1:n.66del		p.*22*	ENST00000494676				0	.	.	.	.	.	-	.	lincRNA	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCTCTGGCAAT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000554458	Transcript	.	.	ENSG00000258784	.	1	.	MODIFIER	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-813I20.2	Clone_based_vega_gene	.	.	.	deletion	RP11-813I20.2,intron_variant,,ENST00000554458,;RPL13AP3,non_coding_transcript_exon_variant,,ENST00000494676,;RPL13AP3,non_coding_transcript_exon_variant,,ENST00000487479,;	.	34	45	SUCCESS
PLEK2	26499	.	GRCh37	14	67862126	67862126	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	37	0	ENST00000216446.4:c.382A>G	p.Ser128Gly	p.S128G	ENST00000216446	NM_016445.1	128	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS9782.1	382	RADIA|VARSCANS	.	CAGGCTGATGT	NONE	.	.	hmmpanther:PTHR12092:SF2,hmmpanther:PTHR12092,Gene3D:1.10.10.10,Superfamily_domains:SSF46785,Superfamily_domains:SSF50729	.	.	ENSP00000216446	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000216446	Transcript	.	.	ENSG00000100558	19238	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.218)	.	deleterious(0.02)	.	PLEK2_HUMAN	PLEK2	HGNC	.	.	UPI0000035D89	SNV	PLEK2,missense_variant,p.Ser128Gly,ENST00000216446,;PLEK2,missense_variant,p.Ser62Gly,ENST00000554395,;PLEK2,upstream_gene_variant,,ENST00000556532,;PLEK2,downstream_gene_variant,,ENST00000557388,;PLEK2,missense_variant,p.Ser112Gly,ENST00000555803,;PLEK2,intron_variant,,ENST00000553387,;	523	37	38	SUCCESS
HEATR4	399671	.	GRCh37	14	73965006	73965006	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	56	0	ENST00000334988.2:c.2399T>C	p.Leu800Pro	p.L800P	ENST00000334988	NM_203309.2	800	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9815.2	2399	RADIA|VARSCANS	.	GCAGAAGATCC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14	.	.	ENSP00000450444	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000553558	Transcript	.	.	ENSG00000187105	16761	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.828)	.	deleterious(0.02)	.	HEAT4_HUMAN	HEATR4	HGNC	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN	.	UPI00001FD7FD	SNV	HEATR4,missense_variant,p.Leu800Pro,ENST00000553558,;HEATR4,missense_variant,p.Leu753Pro,ENST00000560393,;HEATR4,missense_variant,p.Leu800Pro,ENST00000334988,;C14orf169,downstream_gene_variant,,ENST00000531973,;AC005280.1,downstream_gene_variant,,ENST00000304061,;	2721	56	36	SUCCESS
FMN1	342184	.	GRCh37	15	33357071	33357071	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	20	170	0	ENST00000559047.1:c.2161+87G>A		p.*721*	ENST00000559047	NM_001277313.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45209.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCCAAAT	NONE	.	.	.	.	.	ENSP00000333950	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODIFIER	2/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,3_prime_UTR_variant,,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000334528,;FMN1,non_coding_transcript_exon_variant,,ENST00000559150,;	.	170	156	SUCCESS
AQR	9716	.	GRCh37	15	35261737	35261737	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	34	0	ENST00000156471.5:c.75+3G>T		p.X25_splice	ENST00000156471	NM_014691.2	25		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42013.1	.	RADIA|VARSCANS	.	GAGCTCACCTG	NONE	.	.	.	.	.	ENSP00000156471	.	.	.	.	.	.	.	.	.	.	.	.	oxog	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	LOW	1/34	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,splice_region_variant,,ENST00000156471,;AQR,splice_region_variant,,ENST00000543879,;	.	34	51	SUCCESS
TP53BP1	7158	.	GRCh37	15	43749109	43749109	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	30	173	0	ENST00000382044.4:c.1697C>G	p.Pro566Arg	p.P566R	ENST00000382044	NM_001141980.1	566	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS45250.1	1697	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGGAACA	NONE	.	.	hmmpanther:PTHR15321	.	.	ENSP00000371475	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000382044	Transcript	.	.	ENSG00000067369	11999	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.4)	.	TP53B_HUMAN	TP53BP1	HGNC	B3KVT9_HUMAN	.	UPI0000D720ED	SNV	TP53BP1,missense_variant,p.Pro561Arg,ENST00000263801,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000413546,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000382039,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000450115,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000382044,;TP53BP1,upstream_gene_variant,,ENST00000605155,;TP53BP1,upstream_gene_variant,,ENST00000414758,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000480860,;TP53BP1,upstream_gene_variant,,ENST00000411772,;	1825	173	154	SUCCESS
BNC1	646	.	GRCh37	15	83926506	83926506	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	20	75	0	ENST00000345382.2:c.2673T>C	p.Asp891=	p.D891=	ENST00000345382	NM_001717.3	891	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS10324.1	2673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCATCACT	NONE	.	.	hmmpanther:PTHR15021:SF1,hmmpanther:PTHR15021	.	.	ENSP00000307041	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000345382	Transcript	.	.	ENSG00000169594	1081	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BNC1_HUMAN	BNC1	HGNC	.	.	UPI0000126796	SNV	BNC1,synonymous_variant,p.%3D,ENST00000345382,;BNC1,synonymous_variant,p.%3D,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;	2759	75	87	SUCCESS
NR2F2	7026	.	GRCh37	15	96875607	96875608	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	CG	CG	-	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	CG	CG	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	46	0	ENST00000394166.3:c.273_274del	p.Tyr91Ter	p.Y91*	ENST00000394166	NM_021005.3	91	taCGgc/tagc	0	.	.	.	.	.	-	YG/*	protein_coding	YES	CCDS10375.1	273-274	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACTACGGCCAG	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45,PROSITE_patterns:PS00031,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000377721	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	deletion	NR2F2,stop_gained,p.Tyr91Ter,ENST00000394166,;NR2F2,intron_variant,,ENST00000421109,;NR2F2,upstream_gene_variant,,ENST00000453270,;NR2F2,upstream_gene_variant,,ENST00000394171,;NR2F2,upstream_gene_variant,,ENST00000559679,;MIR1469,upstream_gene_variant,,ENST00000410719,;	1662-1663	46	76	SUCCESS
SALL1	6299	.	GRCh37	16	51173735	51173735	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200755920	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	346	16	297	0	ENST00000251020.4:c.2398G>A	p.Asp800Asn	p.D800N	ENST00000251020	NM_002968.2	800	Gac/Aac	0	.	T:0.0008	.	T:0	.	T	D/N	protein_coding	YES	CCDS10747.1	2398	MUTECT|MUSE	.	GCTGTCGGGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	T:0	.	ENSP00000251020	T:0	2/3	.	.	.	.	.	.	.	.	rs200755920	2/3	PASS	ENST00000251020	Transcript	.	T:0.0002	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.373)	T:0	deleterious(0)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Asp800Asn,ENST00000251020,;SALL1,missense_variant,p.Asp703Asn,ENST00000570206,;SALL1,missense_variant,p.Asp703Asn,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	2432	297	362	SUCCESS
CAPN15	6650	.	GRCh37	16	601376	601376	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	26	0	ENST00000219611.2:c.2141G>A	p.Arg714His	p.R714H	ENST00000219611	NM_005632.2	714	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10410.1	2141	RADIA|MUTECT|VARSCANS	.	CCTGCGCCCCC	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000219611	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000219611	Transcript	.	.	ENSG00000103326	11182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	CAN15_HUMAN	CAPN15	HGNC	H3BR03_HUMAN	.	UPI0000071B68	SNV	CAPN15,missense_variant,p.Arg714His,ENST00000219611,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,downstream_gene_variant,,ENST00000562370,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	2504	26	35	SUCCESS
DUS2	54920	.	GRCh37	16	68087464	68087464	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	310	67	372	0	ENST00000358896.6:c.173-3C>T		p.X58_splice	ENST00000358896	NM_001271762.1	58		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10859.1	.	RADIA|MUSE|VARSCANS	.	TCTTGCAGAGG	NONE	.	.	.	.	.	ENSP00000455229	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000565263	Transcript	.	.	ENSG00000167264	26014	.	.	LOW	4/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUS2L_HUMAN	DUS2	HGNC	J3QLD5_HUMAN,I3L4Y9_HUMAN,I3L4H0_HUMAN,I3L1K5_HUMAN,I3L0K0_HUMAN,H3BSF3_HUMAN,H3BRI6_HUMAN,H3BQX4_HUMAN,H3BMK6_HUMAN,H3BM64_HUMAN	.	UPI0000036040	SNV	DUS2,splice_region_variant,,ENST00000571081,;DUS2,splice_region_variant,,ENST00000562246,;DUS2,splice_region_variant,,ENST00000567100,;DUS2,splice_region_variant,,ENST00000432752,;DUS2,splice_region_variant,,ENST00000570709,;DUS2,splice_region_variant,,ENST00000566306,;DUS2,splice_region_variant,,ENST00000568099,;DUS2,splice_region_variant,,ENST00000565263,;DUS2,splice_region_variant,,ENST00000575677,;DUS2,splice_region_variant,,ENST00000576994,;DUS2,splice_region_variant,,ENST00000358896,;DUS2,downstream_gene_variant,,ENST00000564781,;AC130462.1,downstream_gene_variant,,ENST00000408862,;DUS2,splice_region_variant,,ENST00000561965,;DUS2,splice_region_variant,,ENST00000564975,;	.	372	378	SUCCESS
HYDIN	54768	.	GRCh37	16	70884548	70884548	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	20	144	0	ENST00000393567.2:c.12454G>A	p.Asp4152Asn	p.D4152N	ENST00000393567	NM_001270974.1	4152	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS59269.1	12454	RADIA|MUTECT|MUSE|VARSCANS	.	AATATCAATTG	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	74/86	.	.	.	.	.	.	.	.	.	74/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.908)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Asp4152Asn,ENST00000393567,;RNU6ATAC25P,upstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	12605	144	125	SUCCESS
LGALS9B	284194	.	GRCh37	17	20358687	20358687	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	598	143	869	1	ENST00000423676.3:c.469C>A	p.Pro157Thr	p.P157T	ENST00000423676		157	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS42283.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGCTGAA	NONE	.	.	hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346	.	.	ENSP00000315564	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000324290	Transcript	.	.	ENSG00000170298	24842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	deleterious(0.01)	.	LEG9B_HUMAN	LGALS9B	HGNC	.	.	UPI00001AF401	SNV	LGALS9B,missense_variant,p.Pro157Thr,ENST00000423676,;LGALS9B,missense_variant,p.Pro157Thr,ENST00000324290,;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,upstream_gene_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000584703,;LGALS9B,upstream_gene_variant,,ENST00000581490,;	534	870	742	SUCCESS
KRT14	3861	.	GRCh37	17	39742690	39742690	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61027685	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	45	176	0	ENST00000167586.6:c.397G>A	p.Val133Met	p.V133M	ENST00000167586	NM_000526.4	133	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS11400.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCACCTTGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105	.	.	ENSP00000167586	.	1/8	.	.	.	.	.	.	.	.	CM044653,CM055346,CM070974,HIFD_KRT14:c.397G>C,HIFD_KRT14:c.397G>A,HIFD_KRT14:c.397G>T	1/8	PASS	ENST00000167586	Transcript	.	.	ENSG00000186847	6416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	K1C14_HUMAN	KRT14	HGNC	K7ENV3_HUMAN	.	UPI00001AE5AA	SNV	KRT14,missense_variant,p.Val133Met,ENST00000167586,;KRT14,upstream_gene_variant,,ENST00000441550,;KRT14,upstream_gene_variant,,ENST00000476662,;	484	176	191	SUCCESS
CNTD1	124817	.	GRCh37	17	40961398	40961398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	37	176	0	ENST00000588408.1:c.838C>A	p.Gln280Lys	p.Q280K	ENST00000588408	NM_173478.2	280	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS11440.1	838	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGCAGAGC	NONE	.	.	hmmpanther:PTHR21615	.	.	ENSP00000465204	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000588408	Transcript	.	.	ENSG00000176563	26847	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.3)	.	CNTD1_HUMAN	CNTD1	HGNC	B4DXR6_HUMAN	.	UPI000006EFD8	SNV	CNTD1,missense_variant,p.Ala102Glu,ENST00000586652,;CNTD1,missense_variant,p.Gln197Lys,ENST00000588527,;CNTD1,missense_variant,p.Gln280Lys,ENST00000588408,;CNTD1,downstream_gene_variant,,ENST00000585355,;BECN1,downstream_gene_variant,,ENST00000586589,;BECN1,downstream_gene_variant,,ENST00000589663,;BECN1,downstream_gene_variant,,ENST00000590764,;BECN1,downstream_gene_variant,,ENST00000590099,;BECN1,downstream_gene_variant,,ENST00000588276,;BECN1,downstream_gene_variant,,ENST00000586754,;BECN1,downstream_gene_variant,,ENST00000590852,;BECN1,downstream_gene_variant,,ENST00000361523,;BECN1,downstream_gene_variant,,ENST00000438274,;CNTD1,non_coding_transcript_exon_variant,,ENST00000315066,;CNTD1,downstream_gene_variant,,ENST00000591559,;BECN1,downstream_gene_variant,,ENST00000587880,;BECN1,downstream_gene_variant,,ENST00000589492,;BECN1,downstream_gene_variant,,ENST00000590185,;CNTD1,downstream_gene_variant,,ENST00000592166,;BECN1,downstream_gene_variant,,ENST00000543382,;	1114	176	194	SUCCESS
VEZF1	7716	.	GRCh37	17	56065494	56065494	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	15	0	ENST00000581208.1:c.-22A>G		p.*8*	ENST00000581208	NM_007146.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32687.1	.	MUTECT|VARSCANS	.	CCCCCTCCTCC	NONE	.	.	.	.	.	ENSP00000462337	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000581208	Transcript	.	.	ENSG00000136451	12949	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VEZF1_HUMAN	VEZF1	HGNC	.	.	UPI000013D01B	SNV	VEZF1,5_prime_UTR_variant,,ENST00000581208,;VEZF1,5_prime_UTR_variant,,ENST00000583932,;RP11-159D12.5,downstream_gene_variant,,ENST00000578794,;VEZF1,upstream_gene_variant,,ENST00000584396,;RP11-159D12.2,downstream_gene_variant,,ENST00000577267,;RP11-159D12.2,downstream_gene_variant,,ENST00000582096,;RP11-159D12.2,downstream_gene_variant,,ENST00000585065,;	20	15	22	SUCCESS
AXIN2	8313	.	GRCh37	17	63545764	63545765	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	96	0	ENST00000307078.5:c.829_830del	p.Ser277ArgfsTer4	p.S277Rfs*4	ENST00000307078	NM_004655.3	277	AGc/c	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS11662.1	829-830	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATCGCTCCTCT	NONE	.	.	hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	.	ENSP00000302625	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	deletion	AXIN2,frameshift_variant,p.Ser277ArgfsTer4,ENST00000375702,;AXIN2,frameshift_variant,p.Ser277ArgfsTer4,ENST00000307078,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;	1143-1144	96	98	SUCCESS
CDR2L	30850	.	GRCh37	17	72998268	72998268	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs529209429	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	29	0	ENST00000337231.5:c.451C>T	p.Arg151Cys	p.R151C	ENST00000337231	NM_014603.2	151	Cgc/Tgc	0	.	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS11710.2	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAACGCAGG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19232:SF10,hmmpanther:PTHR19232	T:0	.	ENSP00000336587	T:0.001	4/5	.	.	.	.	.	.	.	.	rs529209429,COSM984240	4/5	PASS	ENST00000337231	Transcript	.	T:0.0002	ENSG00000109089	29999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.821)	T:0	deleterious(0)	0,1	CDR2L_HUMAN	CDR2L	HGNC	.	.	UPI00005AE46D	SNV	CDR2L,missense_variant,p.Arg151Cys,ENST00000337231,;	863	29	70	SUCCESS
FGF11	2256	.	GRCh37	17	7343007	7343007	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	10	0	ENST00000293829.4:c.68C>T	p.Pro23Leu	p.P23L	ENST00000293829	NM_004112.2	23	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11105.1	68	RADIA|VARSCANS	.	CCGGCCGGTGT	NONE	.	.	hmmpanther:PTHR11486:SF67,hmmpanther:PTHR11486	.	.	ENSP00000293829	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000293829	Transcript	.	.	ENSG00000161958	3667	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.122)	.	tolerated_low_confidence(0.08)	.	FGF11_HUMAN	FGF11	HGNC	Q6LA99_HUMAN,I3L4N4_HUMAN	.	UPI000003596F	SNV	FGF11,missense_variant,p.Pro23Leu,ENST00000293829,;FGF11,intron_variant,,ENST00000575235,;TMEM102,downstream_gene_variant,,ENST00000396568,;FGF11,upstream_gene_variant,,ENST00000575082,;TMEM102,downstream_gene_variant,,ENST00000323206,;FGF11,upstream_gene_variant,,ENST00000575398,;FGF11,upstream_gene_variant,,ENST00000572907,;RP11-104H15.8,intron_variant,,ENST00000576615,;RP11-104H15.9,upstream_gene_variant,,ENST00000570444,;RP11-104H15.10,non_coding_transcript_exon_variant,,ENST00000575331,;RP11-104H15.7,intron_variant,,ENST00000575310,;FGF11,upstream_gene_variant,,ENST00000576328,;	662	10	26	SUCCESS
LLGL2	3993	.	GRCh37	17	73569581	73569581	+	synonymous_variant	Silent	SNP	C	C	G	rs144386071	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	47	222	0	ENST00000392550.3:c.2745C>G	p.Pro915=	p.P915=	ENST00000392550	NM_001031803.1	915	ccC/ccG	0	T:0.0095	T:0.0166	.	T:0.0014	.	G	P	protein_coding	YES	CCDS32733.1	2745	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCTCGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10241:SF20,hmmpanther:PTHR10241	T:0	T:0.0001	ENSP00000376333	T:0	21/26	.	.	.	.	.	.	.	.	rs144386071	21/26	PASS	ENST00000392550	Transcript	.	T:0.0046	ENSG00000073350	6629	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	L2GL2_HUMAN	LLGL2	HGNC	J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN	.	UPI00005905A8	SNV	LLGL2,synonymous_variant,p.%3D,ENST00000577200,;LLGL2,synonymous_variant,p.%3D,ENST00000167462,;LLGL2,synonymous_variant,p.%3D,ENST00000392550,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;LLGL2,downstream_gene_variant,,ENST00000578719,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,downstream_gene_variant,,ENST00000579092,;	2862	222	267	SUCCESS
TP53	7157	.	GRCh37	17	7578555	7578555	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs868137297	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	47	0	ENST00000269305.4:c.376-1G>A		p.X126_splice	ENST00000269305	NM_001126112.2	126		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11118.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTACTGTAG	SITE|p.?|c.376-1G>A|19,SITE|p.?|c.376-1G>A|11,SITE|p.?|c.376-1G>A|10,SITE|p.?|c.376-1G>A|19,SITE|p.?|c.376-1G>A|11,SITE|p.?|c.97-1G>A|20,SITE|p.?|c.376-1G>A|19,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.Y126_K132delYSPALNK|c.376_396del21|6,BUFFER|p.Y126_N131delYSPALN|c.376_393del18|3,BUFFER|p.P128L|c.383C>T|3,BUFFER|p.P128fs*42|c.382delC|3,BUFFER|p.P128S|c.382C>T|7,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S127Y|c.380C>A|10,BUFFER|p.S34F|c.101C>T|11,BUFFER|p.S127F|c.380C>T|4,BUFFER|p.S127F|c.380C>T|33,BUFFER|p.S127F|c.380C>T|3,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S34P|c.100T>C|4,BUFFER|p.S34T|c.100T>A|4,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.S127P|c.379T>C|8,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127T|c.379T>A|10,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.Y126*|c.378C>G|3,BUFFER|p.Y126*|c.378C>G|4,BUFFER|p.Y126*|c.378C>G|3,BUFFER|p.Y126*|c.378C>A|4,BUFFER|p.Y33*|c.99C>G|3,BUFFER|p.Y126C|c.377A>G|6,BUFFER|p.Y33C|c.98A>G|6,BUFFER|p.Y126C|c.377A>G|3,BUFFER|p.Y126C|c.377A>G|6,BUFFER|p.Y126C|c.377A>G|9,BUFFER|p.Y126S|c.377A>C|3,BUFFER|p.Y126C|c.377A>G|5,BUFFER|p.Y126N|c.376T>A|7,BUFFER|p.Y33D|c.97T>G|7,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.Y126D|c.376T>G|10,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.?|c.97-1G>T|3,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>T|9,BUFFER|p.?|c.376-2A>G|4,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.97-2A>T|3,BUFFER|p.?|c.97-2A>G|10,BUFFER|p.?|c.376-2A>G|17,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-2A>G|6,BUFFER|p.?|c.376-2A>C|4,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-4A>G|3	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	TP53_g.12363del,TP53_g.12363G>A,TP53_g.12363G>T,TP53_g.12363G>C,COSM21572,COSM6900,COSM22908,COSM45809,COSM45364,COSM1167885,COSM218537,COSM218536,COSM1167886,COSM3378369,COSM3388229,COSM2156353,COSM2744965,COSM218538,COSM1167887	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	4/10	PRIMARY	.	.	.	.	4	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	.	47	41	SUCCESS
ZNF253	56242	.	GRCh37	19	20002465	20002465	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	26	217	0	ENST00000589717.1:c.409A>T	p.Thr137Ser	p.T137S	ENST00000589717	NM_021047.2	137	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS42532.1	409	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGACAACT	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106	.	.	ENSP00000468720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	.	tolerated(0.44)	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,missense_variant,p.Thr73Ser,ENST00000592725,;ZNF253,missense_variant,p.Thr61Ser,ENST00000355650,;ZNF253,missense_variant,p.Thr137Ser,ENST00000589717,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,downstream_gene_variant,,ENST00000585571,;	501	217	152	SUCCESS
ZNF229	7772	.	GRCh37	19	44934680	44934680	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	9	132	0	ENST00000588931.1:c.276T>C	p.Asp92=	p.D92=	ENST00000588931	NM_014518.2	92	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS42574.1	276	MUTECT|MUSE|VARSCANS	.	TCTTCATCTTG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377	.	.	ENSP00000466519	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,synonymous_variant,p.%3D,ENST00000588931,;ZNF229,synonymous_variant,p.%3D,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	710	132	111	SUCCESS
TRIM28	10155	.	GRCh37	19	59059680	59059680	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	108	0	ENST00000253024.5:c.1121G>A	p.Arg374Gln	p.R374Q	ENST00000253024	NM_005762.2	374	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12985.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGGGCCC	NONE	.	.	hmmpanther:PTHR24103:SF285,hmmpanther:PTHR24103,SMART_domains:SM00502	.	.	ENSP00000253024	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000253024	Transcript	.	.	ENSG00000130726	16384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.337)	.	deleterious(0.01)	.	TIF1B_HUMAN	TRIM28	HGNC	M0R3C0_HUMAN,M0QZE6_HUMAN	.	UPI0000136C15	SNV	TRIM28,missense_variant,p.Arg292Gln,ENST00000341753,;TRIM28,missense_variant,p.Arg374Gln,ENST00000253024,;TRIM28,missense_variant,p.Arg7Gln,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000312547,;CHMP2A,downstream_gene_variant,,ENST00000600118,;TRIM28,downstream_gene_variant,,ENST00000597968,;CHMP2A,downstream_gene_variant,,ENST00000601220,;TRIM28,downstream_gene_variant,,ENST00000594806,;CHMP2A,downstream_gene_variant,,ENST00000596708,;TRIM28,downstream_gene_variant,,ENST00000593582,;CHMP2A,downstream_gene_variant,,ENST00000600006,;RN7SL525P,upstream_gene_variant,,ENST00000579267,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597172,;TRIM28,non_coding_transcript_exon_variant,,ENST00000601150,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597995,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,upstream_gene_variant,,ENST00000598355,;TRIM28,downstream_gene_variant,,ENST00000597423,;TRIM28,downstream_gene_variant,,ENST00000597618,;TRIM28,upstream_gene_variant,,ENST00000595974,;TRIM28,upstream_gene_variant,,ENST00000595028,;TRIM28,upstream_gene_variant,,ENST00000600840,;	1410	108	119	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7505118	7505118	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	14	83	0	ENST00000359920.6:c.292T>A	p.Ser98Thr	p.S98T	ENST00000359920	NM_001130955.1	98	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS45946.1	292	RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTCCAAG	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF9	.	.	ENSP00000352995	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.21)	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,missense_variant,p.Ser98Thr,ENST00000359920,;ARHGEF18,5_prime_UTR_variant,,ENST00000599752,;ARHGEF18,intron_variant,,ENST00000319670,;CTD-2207O23.3,intron_variant,,ENST00000593531,;ARHGEF18,upstream_gene_variant,,ENST00000595600,;	545	83	92	SUCCESS
MUC16	94025	.	GRCh37	19	9024161	9024161	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780340778	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	18	201	0	ENST00000397910.4:c.37111A>T	p.Thr12371Ser	p.T12371S	ENST00000397910	NM_024690.2	12371	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS54212.1	37111	MUTECT|MUSE|VARSCANS	.	TGGAGTCCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	18/84	.	.	.	.	.	.	.	.	rs780340778	18/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.702)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr12371Ser,ENST00000397910,;	37315	201	197	SUCCESS
MUC16	94025	.	GRCh37	19	9048323	9048323	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	19	144	1	ENST00000397910.4:c.33308C>A	p.Thr11103Asn	p.T11103N	ENST00000397910	NM_024690.2	11103	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54212.1	33308	RADIA|MUTECT|MUSE|VARSCANS	.	AACTAGTGACC	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.506)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr11103Asn,ENST00000397910,;	33512	145	117	SUCCESS
MUC16	94025	.	GRCh37	19	9048324	9048324	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	19	144	0	ENST00000397910.4:c.33307A>C	p.Thr11103Pro	p.T11103P	ENST00000397910	NM_024690.2	11103	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS54212.1	33307	RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGTGACCA	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.022)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr11103Pro,ENST00000397910,;	33511	144	119	SUCCESS
SEMA6C	10500	.	GRCh37	1	151108527	151108527	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759216826	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	240	143	230	0	ENST00000341697.3:c.1219C>A	p.Pro407Thr	p.P407T	ENST00000341697		407	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS53364.1	1219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGTACAG	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,PROSITE_profiles:PS51004	.	.	ENSP00000357909	.	13/20	.	.	.	.	.	.	.	.	rs759216826	13/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	deleterious(0)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Pro407Thr,ENST00000368914,;SEMA6C,missense_variant,p.Pro407Thr,ENST00000368913,;SEMA6C,missense_variant,p.Pro407Thr,ENST00000341697,;SEMA6C,missense_variant,p.Pro367Thr,ENST00000368912,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000485745,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000489944,;	1348	230	383	SUCCESS
SPTA1	6708	.	GRCh37	1	158623173	158623173	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	83	176	0	ENST00000368147.4:c.3079C>A	p.Pro1027Thr	p.P1027T	ENST00000368147	NM_003126.2	1027	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41423.1	3079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGACAA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00150,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR01887	.	.	ENSP00000357129	.	22/52	.	.	.	.	.	.	.	.	.	22/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Pro1027Thr,ENST00000368147,;	3260	176	204	SUCCESS
HMCN1	83872	.	GRCh37	1	185970862	185970862	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	41	214	0	ENST00000271588.4:c.4337T>A	p.Ile1446Asn	p.I1446N	ENST00000271588	NM_031935.2	1446	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS30956.1	4337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACATTGATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	28/107	.	.	.	.	.	.	.	.	.	28/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.609)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ile1446Asn,ENST00000367492,;HMCN1,missense_variant,p.Ile1446Asn,ENST00000271588,;	4566	214	181	SUCCESS
ESRRG	2104	.	GRCh37	1	216896739	216896739	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	9	0	ENST00000408911.3:c.-98C>T		p.*33*	ENST00000408911	NM_001438.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58061.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAGCCTAT	NONE	.	.	.	.	.	ENSP00000355904	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000366937	Transcript	.	.	ENSG00000196482	3474	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,5_prime_UTR_variant,,ENST00000481543,;ESRRG,5_prime_UTR_variant,,ENST00000459955,;ESRRG,5_prime_UTR_variant,,ENST00000469486,;ESRRG,5_prime_UTR_variant,,ENST00000408911,;ESRRG,5_prime_UTR_variant,,ENST00000391890,;ESRRG,5_prime_UTR_variant,,ENST00000366937,;ESRRG,intron_variant,,ENST00000487276,;ESRRG,intron_variant,,ENST00000366938,;ESRRG,intron_variant,,ENST00000360012,;ESRRG,intron_variant,,ENST00000366940,;ESRRG,intron_variant,,ENST00000361525,;ESRRG,intron_variant,,ENST00000359162,;ESRRG,intron_variant,,ENST00000493603,;ESRRG,intron_variant,,ENST00000493748,;ESRRG,intron_variant,,ENST00000463665,;ESRRG,intron_variant,,ENST00000361395,;ESRRG,upstream_gene_variant,,ENST00000475275,;ESRRG,non_coding_transcript_exon_variant,,ENST00000469913,;ESRRG,intron_variant,,ENST00000586199,;	57	9	17	SUCCESS
OR2B11	127623	.	GRCh37	1	247614391	247614391	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	24	173	0	ENST00000318749.6:c.894T>C	p.Asn298=	p.N298=	ENST00000318749	NM_001004492.1	298	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS31090.1	894	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTATTTCT	NONE	.	.	Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,synonymous_variant,p.%3D,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	918	173	164	SUCCESS
OR2W3	343171	.	GRCh37	1	248059698	248059698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	58	266	0	ENST00000360358.3:c.810G>T	p.Gln270His	p.Q270H	ENST00000360358	NM_001001957.2	270	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS31099.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGGCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF223,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000445853	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000537741	Transcript	.	.	ENSG00000238243	15021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.05)	.	OR2W3_HUMAN	OR2W3	HGNC	.	.	UPI0000061EA8	SNV	OR2W3,missense_variant,p.Gln270His,ENST00000537741,;OR2W3,missense_variant,p.Gln270His,ENST00000360358,;	1067	266	247	SUCCESS
MSH4	4438	.	GRCh37	1	76365354	76365354	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762445703	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	609	37	800	0	ENST00000263187.3:c.2582C>T	p.Ala861Val	p.A861V	ENST00000263187	NM_002440.3	861	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS670.1	2582	MUTECT|MUSE	.	GGATGCCAAGG	NONE	.	.	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,Gene3D:3.40.50.300,Pfam_domain:PF00488,SMART_domains:SM00534,Superfamily_domains:SSF52540	.	.	ENSP00000263187	.	19/20	.	.	.	.	.	.	.	.	rs762445703	19/20	PASS	ENST00000263187	Transcript	.	.	ENSG00000057468	7327	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MSH4_HUMAN	MSH4	HGNC	Q5ZEZ0_HUMAN	.	UPI000006D934	SNV	MSH4,missense_variant,p.Ala861Val,ENST00000263187,;	2686	800	646	SUCCESS
FLRT3	23767	.	GRCh37	20	14307370	14307370	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	26	146	0	ENST00000341420.4:c.783G>A	p.Arg261=	p.R261=	ENST00000341420	NM_198391.2	261	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13121.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCCGATT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF4,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000367292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378053	Transcript	1	.	ENSG00000125848	3762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT3_HUMAN	FLRT3	HGNC	.	.	UPI0000001BE7	SNV	FLRT3,synonymous_variant,p.%3D,ENST00000378053,;FLRT3,synonymous_variant,p.%3D,ENST00000341420,;MACROD2,intron_variant,,ENST00000217246,;MACROD2,intron_variant,,ENST00000310348,;MACROD2,intron_variant,,ENST00000490428,;MACROD2,intron_variant,,ENST00000494602,;MACROD2,intron_variant,,ENST00000477147,;FLRT3,downstream_gene_variant,,ENST00000462077,;	1040	146	121	SUCCESS
TGM3	7053	.	GRCh37	20	2321189	2321189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	13	107	0	ENST00000381458.5:c.2044G>T	p.Ala682Ser	p.A682S	ENST00000381458	NM_003245.3	682	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33435.1	2044	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGCAATC	NONE	.	.	hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000370867	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000381458	Transcript	.	.	ENSG00000125780	11779	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	tolerated(0.12)	.	TGM3_HUMAN	TGM3	HGNC	.	.	UPI0000136CCC	SNV	TGM3,missense_variant,p.Ala682Ser,ENST00000381458,;	2107	107	127	SUCCESS
SPATA2	9825	.	GRCh37	20	48523374	48523374	+	synonymous_variant	Silent	SNP	C	C	A	rs768307240	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	20	151	0	ENST00000289431.5:c.345G>T	p.Thr115=	p.T115=	ENST00000289431	NM_006038.3	115	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13422.1	345	MUTECT|MUSE|VARSCANS	.	GGGCCCGTGTA	NONE	byFrequency	.	hmmpanther:PTHR15326:SF4,hmmpanther:PTHR15326	.	.	ENSP00000416799	.	3/3	.	.	.	.	.	.	.	.	rs768307240	3/3	PASS	ENST00000422556	Transcript	.	.	ENSG00000158480	14681	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPAT2_HUMAN	SPATA2	HGNC	F5H3K3_HUMAN	.	UPI000013557F	SNV	SPATA2,synonymous_variant,p.%3D,ENST00000422556,;SPATA2,synonymous_variant,p.%3D,ENST00000289431,;SPATA2,5_prime_UTR_variant,,ENST00000543716,;	695	151	217	SUCCESS
CLTCL1	8218	.	GRCh37	22	19223332	19223332	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs191439705	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	26	148	0	ENST00000427926.1:c.856G>C	p.Asp286His	p.D286H	ENST00000427926		286	Gac/Cac	0	.	G:0	.	G:0.0043	.	G	D/H	protein_coding	YES	CCDS46662.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCGTACA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096	G:0	.	ENSP00000445677	G:0	6/33	.	.	.	.	.	.	.	.	rs191439705	6/33	PASS	ENST00000263200	Transcript	.	G:0.0006	ENSG00000070371	2093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	G:0	deleterious(0)	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,missense_variant,p.Asp286His,ENST00000427926,;CLTCL1,missense_variant,p.Asp286His,ENST00000263200,;CLTCL1,missense_variant,p.Asp286His,ENST00000353891,;CLTCL1,missense_variant,p.Asp286His,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,upstream_gene_variant,,ENST00000540896,;AC000081.2,downstream_gene_variant,,ENST00000433141,;	929	148	118	SUCCESS
NF2	4771	.	GRCh37	22	30069414	30069414	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	82	0	ENST00000338641.4:c.1279G>T	p.Glu427Ter	p.E427*	ENST00000338641	NM_000268.3	427	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13861.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGAGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305	.	.	ENSP00000344666	.	12/16	.	.	.	.	.	.	.	.	CM002818	12/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	SNV	NF2,stop_gained,p.Glu398Ter,ENST00000403435,;NF2,stop_gained,p.Glu385Ter,ENST00000361676,;NF2,stop_gained,p.Glu427Ter,ENST00000338641,;NF2,stop_gained,p.Glu427Ter,ENST00000397789,;NF2,stop_gained,p.Glu344Ter,ENST00000353887,;NF2,stop_gained,p.Glu427Ter,ENST00000361166,;NF2,stop_gained,p.Glu427Ter,ENST00000403999,;NF2,stop_gained,p.Glu344Ter,ENST00000334961,;NF2,stop_gained,p.Glu386Ter,ENST00000361452,;NF2,intron_variant,,ENST00000347330,;NF2,intron_variant,,ENST00000413209,;NF2,intron_variant,,ENST00000432151,;	1720	82	96	SUCCESS
CSNK1E	1454	.	GRCh37	22	38696748	38696748	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	75	318	0	ENST00000359867.3:c.546C>G	p.Ile182Met	p.I182M	ENST00000359867	NM_001894.4	182	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS13970.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTGATGGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF74,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000380044	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000396832	Transcript	.	.	ENSG00000213923	2453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	tolerated_low_confidence(0.13)	.	KC1E_HUMAN	CSNK1E	HGNC	Q5U045_HUMAN,B0QY36_HUMAN	.	UPI000012DC67	SNV	CSNK1E,missense_variant,p.Ile182Met,ENST00000403904,;CSNK1E,missense_variant,p.Ile182Met,ENST00000359867,;CSNK1E,missense_variant,p.Ile182Met,ENST00000405675,;CSNK1E,missense_variant,p.Ile182Met,ENST00000430335,;CSNK1E,missense_variant,p.Ile120Met,ENST00000451964,;CSNK1E,missense_variant,p.Ile182Met,ENST00000400206,;CSNK1E,missense_variant,p.Ile182Met,ENST00000413574,;CSNK1E,missense_variant,p.Ile182Met,ENST00000396832,;CSNK1E,upstream_gene_variant,,ENST00000431632,;CSNK1E,upstream_gene_variant,,ENST00000498529,;CSNK1E,stop_gained,p.Ser8Ter,ENST00000431611,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000467976,;CSNK1E,upstream_gene_variant,,ENST00000442216,;	807	318	282	SUCCESS
AMER3	205147	.	GRCh37	2	131520957	131520957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	34	0	ENST00000321420.4:c.1312C>A	p.Pro438Thr	p.P438T	ENST00000321420		438	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS2164.1	1312	RADIA|MUTECT|MUSE	.	CCAGCCCAGAT	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2,Pfam_domain:PF09422	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.288)	.	deleterious(0)	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,missense_variant,p.Pro438Thr,ENST00000321420,;AMER3,missense_variant,p.Pro438Thr,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	1422	34	50	SUCCESS
LRP1B	53353	.	GRCh37	2	141812802	141812802	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs545142973	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	146	0	ENST00000389484.3:c.1435C>T	p.Pro479Ser	p.P479S	ENST00000389484	NM_018557.2	479	Cca/Tca	0	.	T:0	.	T:0	.	A	P/S	protein_coding	YES	CCDS2182.1	1435	RADIA|MUTECT|MUSE|VARSCANS	.	ATATGGATCGA	NONE	by1000G	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184	T:0	.	ENSP00000374135	T:0	10/91	.	.	.	.	.	.	.	.	rs545142973,COSM4085225	10/91	PASS	ENST00000389484	Transcript	.	T:0.0002	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.641)	T:0.001	.	0,1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Pro479Ser,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	2407	146	144	SUCCESS
COBLL1	22837	.	GRCh37	2	165551580	165551580	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	242	51	345	0	ENST00000392717.2:c.2550A>T	p.Lys850Asn	p.K850N	ENST00000392717		850	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS2223.2	2436	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTTTCAC	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.511)	.	deleterious(0.01)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Lys774Asn,ENST00000375458,;COBLL1,missense_variant,p.Lys812Asn,ENST00000409184,;COBLL1,missense_variant,p.Lys812Asn,ENST00000342193,;COBLL1,missense_variant,p.Lys850Asn,ENST00000392717,;COBLL1,missense_variant,p.Lys879Asn,ENST00000194871,;COBLL1,upstream_gene_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;	2652	345	294	SUCCESS
TTN	7273	.	GRCh37	2	179395002	179395002	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	19	116	0	ENST00000591111.1:c.101417C>G	p.Pro33806Arg	p.P33806R	ENST00000591111		33806	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS59435.1	106340	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGGGTTCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	358/363	.	.	.	.	.	.	.	.	.	358/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro26507Arg,ENST00000359218,;TTN,missense_variant,p.Pro26382Arg,ENST00000460472,;TTN,missense_variant,p.Pro33806Arg,ENST00000591111,;TTN,missense_variant,p.Pro35447Arg,ENST00000589042,;TTN,missense_variant,p.Pro26574Arg,ENST00000342175,;TTN,missense_variant,p.Pro32879Arg,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000585625,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000587568,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000587944,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000604571,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,downstream_gene_variant,,ENST00000592161,;TTN-AS1,upstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000587576,;	106565	116	121	SUCCESS
MYT1L	23040	.	GRCh37	2	1812887	1812887	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774591482	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	24	165	0	ENST00000399161.2:c.3133G>A	p.Gly1045Arg	p.G1045R	ENST00000399161	NM_015025.2	1045	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46222.1	3127	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCAGAAA	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Superfamily_domains:0042508	.	.	ENSP00000396103	.	22/25	.	.	.	.	.	.	.	.	rs774591482,COSM2151708,COSM3407375	22/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.838)	.	deleterious(0)	0,1,1	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Gly1045Arg,ENST00000399161,;MYT1L,missense_variant,p.Gly99Arg,ENST00000399157,;MYT1L,missense_variant,p.Gly41Arg,ENST00000407844,;MYT1L,missense_variant,p.Gly1043Arg,ENST00000428368,;	3797	165	160	SUCCESS
ZDBF2	57683	.	GRCh37	2	207170909	207170909	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	53	0	ENST00000374423.3:c.1661del	p.Pro554GlnfsTer39	p.P554Qfs*39	ENST00000374423	NM_020923.1	553	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS46501.1	1657	VARSCANI*|PINDEL	.	GACAGACCCCCA	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	deletion	ZDBF2,frameshift_variant,p.Pro554GlnfsTer39,ENST00000374423,;	2043	53	67	SUCCESS
TNP1	7141	.	GRCh37	2	217724619	217724619	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	41	194	0	ENST00000236979.2:c.139G>T	p.Ala47Ser	p.A47S	ENST00000236979	NM_003284.3	47	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2406.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCGTCAT	NONE	.	.	Pfam_domain:PF02079,hmmpanther:PTHR17486	.	.	ENSP00000236979	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000236979	Transcript	.	.	ENSG00000118245	11951	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.08)	.	STP1_HUMAN	TNP1	HGNC	Q4ZG82_HUMAN	.	UPI00000012DC	SNV	TNP1,missense_variant,p.Ala47Ser,ENST00000236979,;AC007563.5,intron_variant,,ENST00000447289,;AC007557.4,upstream_gene_variant,,ENST00000440900,;AC007563.5,upstream_gene_variant,,ENST00000607591,;	169	194	205	SUCCESS
AQP12B	653437	.	GRCh37	2	241622316	241622316	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	98	0	ENST00000407834.3:c.-62C>T		p.*21*	ENST00000407834	NM_001102467.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46560.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCCGGT	NONE	.	.	.	.	.	ENSP00000384894	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000407834	Transcript	.	.	ENSG00000185176	6096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQ12B_HUMAN	AQP12B	HGNC	.	.	UPI0000F705B9	SNV	AQP12B,5_prime_UTR_variant,,ENST00000407834,;AC011298.1,downstream_gene_variant,,ENST00000599492,;AC011298.2,upstream_gene_variant,,ENST00000407635,;AQP12B,upstream_gene_variant,,ENST00000459806,;AQP12B,5_prime_UTR_variant,,ENST00000414322,;AQP12B,upstream_gene_variant,,ENST00000413999,;AQP12B,upstream_gene_variant,,ENST00000452886,;	2	98	71	SUCCESS
ACP1	52	.	GRCh37	2	277013	277013	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	33	242	0	ENST00000272065.5:c.327C>T	p.Thr109=	p.T109=	ENST00000272065	NM_004300.3	109	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1640.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCTGCAA	NONE	.	.	hmmpanther:PTHR11717:SF17,hmmpanther:PTHR11717,Pfam_domain:PF01451,Gene3D:3.40.50.270,SMART_domains:SM00226,Superfamily_domains:SSF52788	.	.	ENSP00000272067	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000272067	Transcript	.	.	ENSG00000143727	122	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPAC_HUMAN	ACP1	HGNC	.	.	UPI0000000C82	SNV	ACP1,synonymous_variant,p.%3D,ENST00000272065,;ACP1,synonymous_variant,p.%3D,ENST00000272067,;ACP1,downstream_gene_variant,,ENST00000439645,;FAM150B,downstream_gene_variant,,ENST00000344414,;ACP1,downstream_gene_variant,,ENST00000407983,;ACP1,downstream_gene_variant,,ENST00000405233,;FAM150B,downstream_gene_variant,,ENST00000403610,;FAM150B,downstream_gene_variant,,ENST00000401503,;FAM150B,downstream_gene_variant,,ENST00000401489,;FAM150B,downstream_gene_variant,,ENST00000405290,;ACP1,non_coding_transcript_exon_variant,,ENST00000484464,;ACP1,3_prime_UTR_variant,,ENST00000453390,;ACP1,3_prime_UTR_variant,,ENST00000413140,;ACP1,3_prime_UTR_variant,,ENST00000442386,;ACP1,non_coding_transcript_exon_variant,,ENST00000463831,;ACP1,downstream_gene_variant,,ENST00000480874,;ACP1,downstream_gene_variant,,ENST00000405364,;	423	242	215	SUCCESS
TTC27	55622	.	GRCh37	2	32859027	32859027	+	synonymous_variant	Silent	SNP	C	C	T	rs1305032899	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	350	71	382	0	ENST00000317907.4:c.351C>T	p.His117=	p.H117=	ENST00000317907	NM_017735.4	117	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS33176.1	351	RADIA|MUTECT|MUSE|VARSCANS	.	TTACACCCTCA	NONE	.	.	hmmpanther:PTHR16193	.	.	ENSP00000313953	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000317907	Transcript	.	.	ENSG00000018699	25986	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TTC27_HUMAN	TTC27	HGNC	C9JVS4_HUMAN,B4DRC7_HUMAN	.	UPI0000208226	SNV	TTC27,synonymous_variant,p.%3D,ENST00000317907,;TTC27,synonymous_variant,p.%3D,ENST00000448773,;MIR4765,upstream_gene_variant,,ENST00000585007,;TTC27,intron_variant,,ENST00000454690,;	582	383	421	SUCCESS
GMCL1	64395	.	GRCh37	2	70066643	70066643	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147534979	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	341	81	507	1	ENST00000282570.3:c.439A>G	p.Ile147Val	p.I147V	ENST00000282570	NM_178439.3	147	Att/Gtt	0	G:0.0018	G:0.0023	.	G:0	.	G	I/V	protein_coding	YES	CCDS1895.1	439	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATATTATT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50097,hmmpanther:PTHR23231:SF11,hmmpanther:PTHR23231,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	G:0	G:0	ENSP00000282570	G:0	3/14	.	.	.	.	.	.	.	.	rs147534979	3/14	PASS	ENST00000282570	Transcript	.	G:0.0006	ENSG00000087338	23843	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	G:0	tolerated(0.57)	.	GMCL1_HUMAN	GMCL1	HGNC	Q53SE7_HUMAN	.	UPI00000704BE	SNV	GMCL1,missense_variant,p.Ile147Val,ENST00000282570,;GMCL1,non_coding_transcript_exon_variant,,ENST00000468386,;GMCL1,upstream_gene_variant,,ENST00000471404,;	690	508	422	SUCCESS
VGLL4	9686	.	GRCh37	3	11606425	11606426	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	20	0	ENST00000273038.3:c.322_323del	p.Ala108CysfsTer98	p.A108Cfs*98	ENST00000273038	NM_014667.2	108	GCt/t	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS46754.1	340-341	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCACAGCGCGCT	NONE	.	.	hmmpanther:PTHR17604:SF1,hmmpanther:PTHR17604,Pfam_domain:PF15245	.	.	ENSP00000404251	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000430365	Transcript	.	.	ENSG00000144560	28966	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	VGLL4	HGNC	Q0H0I7_HUMAN,G5E9M9_HUMAN,G5E9M7_HUMAN,C9JX59_HUMAN,C9JBN2_HUMAN	.	UPI000013D995	deletion	VGLL4,frameshift_variant,p.Ala104CysfsTer?,ENST00000458499,;VGLL4,frameshift_variant,p.Ala108CysfsTer?,ENST00000419541,;VGLL4,frameshift_variant,p.Ala49CysfsTer?,ENST00000424709,;VGLL4,frameshift_variant,p.Ala49CysfsTer98,ENST00000413604,;VGLL4,frameshift_variant,p.Ala108CysfsTer98,ENST00000445411,;VGLL4,frameshift_variant,p.Ala28CysfsTer98,ENST00000451674,;VGLL4,frameshift_variant,p.Ala49CysfsTer?,ENST00000437722,;VGLL4,frameshift_variant,p.Ala108CysfsTer?,ENST00000417206,;VGLL4,frameshift_variant,p.Ala114CysfsTer98,ENST00000430365,;VGLL4,frameshift_variant,p.Ala108CysfsTer98,ENST00000273038,;VGLL4,frameshift_variant,p.Ala108CysfsTer?,ENST00000418000,;VGLL4,frameshift_variant,p.Ala113CysfsTer98,ENST00000404339,;VGLL4,frameshift_variant,p.Ala24CysfsTer98,ENST00000424529,;VGLL4,3_prime_UTR_variant,,ENST00000426568,;VGLL4,3_prime_UTR_variant,,ENST00000417466,;	746-747	20	51	SUCCESS
MBD4	8930	.	GRCh37	3	129151263	129151266	+	intron_variant	Intron	DEL	AATA	AATA	-	rs761135491	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	AATA	AATA	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	24	0	ENST00000249910.1:c.1665+80_1665+83del		p.*555*	ENST00000249910				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3058.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTATCCAATAAATAG	NONE	.	.	.	.	.	ENSP00000249910	.	.	.	.	.	.	.	.	.	.	rs761135491	.	PASS	ENST00000249910	Transcript	.	.	ENSG00000129071	6919	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MBD4_HUMAN	MBD4	HGNC	.	.	UPI0000073E6A	deletion	MBD4,3_prime_UTR_variant,,ENST00000507208,;MBD4,intron_variant,,ENST00000393278,;MBD4,intron_variant,,ENST00000503197,;MBD4,intron_variant,,ENST00000249910,;MBD4,intron_variant,,ENST00000429544,;EFCAB12,upstream_gene_variant,,ENST00000503957,;EFCAB12,upstream_gene_variant,,ENST00000505956,;EFCAB12,upstream_gene_variant,,ENST00000326085,;MBD4,downstream_gene_variant,,ENST00000509587,;MBD4,downstream_gene_variant,,ENST00000505883,;MBD4,intron_variant,,ENST00000509828,;MBD4,downstream_gene_variant,,ENST00000515266,;MBD4,downstream_gene_variant,,ENST00000511009,;	.	24	41	SUCCESS
PIK3CB	5291	.	GRCh37	3	138426053	138426053	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	34	222	0	ENST00000289153.2:c.1478T>C	p.Val493Ala	p.V493A	ENST00000289153	NM_006219.2	493	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3104.1	1478	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAACATGC	NONE	.	.	PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000418143	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000477593	Transcript	.	.	ENSG00000051382	8976	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.099)	.	deleterious(0)	.	PK3CB_HUMAN	PIK3CB	HGNC	Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN	.	UPI0000046842	SNV	PIK3CB,missense_variant,p.Val142Ala,ENST00000493568,;PIK3CB,missense_variant,p.Val493Ala,ENST00000477593,;PIK3CB,missense_variant,p.Val493Ala,ENST00000289153,;PIK3CB,intron_variant,,ENST00000544716,;PIK3CB,missense_variant,p.Val42Ala,ENST00000473435,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;PIK3CB,intron_variant,,ENST00000469284,;	1552	222	240	SUCCESS
TRIM42	287015	.	GRCh37	3	140401304	140401304	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	94	0	ENST00000286349.3:c.342C>A		p.X114_splice	ENST00000286349	NM_152616.4	114	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3113.1	342	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCTCCAA	NONE	.	.	.	.	.	ENSP00000286349	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,synonymous_variant,p.%3D,ENST00000286349,;	533	94	104	SUCCESS
CP	1356	.	GRCh37	3	148923993	148923993	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201036476	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	49	235	0	ENST00000264613.6:c.1170A>G	p.Ile390Met	p.I390M	ENST00000264613	NM_000096.3	390	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3141.1	1170	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCTATACC	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	6/19	.	.	.	.	.	.	.	.	rs201036476	6/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.24)	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,missense_variant,p.Ile390Met,ENST00000264613,;CP,missense_variant,p.Ile173Met,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Ile390Met,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	1433	235	215	SUCCESS
MME	4311	.	GRCh37	3	154890002	154890002	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	622	115	964	0	ENST00000360490.2:c.2076+1G>T		p.X692_splice	ENST00000360490	NM_007289.2	692		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3172.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGTATTG	NONE	.	.	.	.	.	ENSP00000418525	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000460393	Transcript	.	.	ENSG00000196549	7154	.	.	HIGH	21/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEP_HUMAN	MME	HGNC	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN	.	UPI0000033C41	SNV	MME,splice_donor_variant,,ENST00000360490,;MME,splice_donor_variant,,ENST00000460393,;MME,splice_donor_variant,,ENST00000492661,;MME,splice_donor_variant,,ENST00000493237,;MME,splice_donor_variant,,ENST00000462745,;MME-AS1,intron_variant,,ENST00000484721,;MME,splice_donor_variant,,ENST00000493888,;MME,downstream_gene_variant,,ENST00000495577,;	.	964	738	SUCCESS
EIF4G1	1981	.	GRCh37	3	184045645	184045645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	95	0	ENST00000346169.2:c.3808G>A	p.Ala1270Thr	p.A1270T	ENST00000346169	NM_198241.2	1270	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54687.1	3829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCCTCA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00544,Pfam_domain:PF02847,Gene3D:1.25.40.180,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,PROSITE_profiles:PS51366	.	.	ENSP00000416255	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000424196	Transcript	.	.	ENSG00000114867	3296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0.03)	.	IF4G1_HUMAN	EIF4G1	HGNC	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN	.	UPI00015E0966	SNV	EIF4G1,missense_variant,p.Ala1231Thr,ENST00000411531,;EIF4G1,missense_variant,p.Ala1183Thr,ENST00000392537,;EIF4G1,missense_variant,p.Ala1270Thr,ENST00000346169,;EIF4G1,missense_variant,p.Ala1270Thr,ENST00000319274,;EIF4G1,missense_variant,p.Ala1230Thr,ENST00000414031,;EIF4G1,missense_variant,p.Ala1277Thr,ENST00000352767,;EIF4G1,missense_variant,p.Ala1277Thr,ENST00000424196,;EIF4G1,missense_variant,p.Ala1075Thr,ENST00000434061,;EIF4G1,missense_variant,p.Ala1184Thr,ENST00000427845,;EIF4G1,missense_variant,p.Ala1074Thr,ENST00000435046,;EIF4G1,missense_variant,p.Ala1277Thr,ENST00000382330,;EIF4G1,missense_variant,p.Ala1106Thr,ENST00000350481,;EIF4G1,missense_variant,p.Ala1107Thr,ENST00000441154,;EIF4G1,missense_variant,p.Ala1271Thr,ENST00000342981,;EIF2B5,intron_variant,,ENST00000444495,;EIF4G1,downstream_gene_variant,,ENST00000450424,;EIF4G1,downstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000444861,;EIF4G1,downstream_gene_variant,,ENST00000426123,;EIF4G1,downstream_gene_variant,,ENST00000421110,;SNORD66,downstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000482303,;EIF4G1,upstream_gene_variant,,ENST00000478291,;EIF4G1,upstream_gene_variant,,ENST00000464548,;EIF4G1,upstream_gene_variant,,ENST00000460829,;EIF4G1,downstream_gene_variant,,ENST00000466311,;EIF4G1,upstream_gene_variant,,ENST00000422614,;EIF4G1,upstream_gene_variant,,ENST00000475721,;EIF4G1,downstream_gene_variant,,ENST00000413967,;	4218	95	100	SUCCESS
TCAIM	285343	.	GRCh37	3	44449032	44449032	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	286	51	324	0	ENST00000342649.4:c.1349T>G	p.Val450Gly	p.V450G	ENST00000342649	NM_173826.3	450	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS2712.1	1349	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGTGGATT	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.517)	.	deleterious(0)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Val450Gly,ENST00000342649,;TCAIM,missense_variant,p.Val450Gly,ENST00000417237,;TCAIM,non_coding_transcript_exon_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;	1776	324	338	SUCCESS
TMEM115	11070	.	GRCh37	3	50396005	50396005	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	19	0	ENST00000266025.3:c.490G>A	p.Val164Met	p.V164M	ENST00000266025	NM_007024.4	164	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS2828.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCACCTGGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:SSF144091,hmmpanther:PTHR13377	.	.	ENSP00000266025	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000266025	Transcript	.	.	ENSG00000126062	30055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	tolerated(0.16)	.	TM115_HUMAN	TMEM115	HGNC	.	.	UPI0000131B9A	SNV	TMEM115,missense_variant,p.Val164Met,ENST00000266025,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;CYB561D2,downstream_gene_variant,,ENST00000424512,;CACNA2D2,downstream_gene_variant,,ENST00000360963,;CYB561D2,downstream_gene_variant,,ENST00000418577,;CYB561D2,downstream_gene_variant,,ENST00000232508,;CACNA2D2,downstream_gene_variant,,ENST00000435965,;CACNA2D2,downstream_gene_variant,,ENST00000266039,;CACNA2D2,downstream_gene_variant,,ENST00000429770,;CACNA2D2,downstream_gene_variant,,ENST00000424201,;CYB561D2,downstream_gene_variant,,ENST00000425346,;CACNA2D2,downstream_gene_variant,,ENST00000423994,;CACNA2D2,downstream_gene_variant,,ENST00000395083,;CYB561D2,downstream_gene_variant,,ENST00000490926,;CACNA2D2,downstream_gene_variant,,ENST00000483620,;	1037	19	21	SUCCESS
PRRT3	285368	.	GRCh37	3	9991578	9991578	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	85	0	ENST00000295984.3:c.222T>C	p.Asp74=	p.D74=	ENST00000295984		74	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS43049.1	222	RADIA|MUTECT|MUSE|VARSCANS	.	CGGACATCAGA	BUFFER|p.A78T|c.232G>A|3	.	.	hmmpanther:PTHR21712,hmmpanther:PTHR21712:SF27	.	.	ENSP00000392511	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000412055	Transcript	.	.	ENSG00000163704	26591	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRRT3_HUMAN	PRRT3	HGNC	.	.	UPI000019962A	SNV	PRRT3,synonymous_variant,p.%3D,ENST00000411976,;PRRT3,synonymous_variant,p.%3D,ENST00000412055,;CRELD1,downstream_gene_variant,,ENST00000435417,;CRELD1,downstream_gene_variant,,ENST00000452070,;CRELD1,downstream_gene_variant,,ENST00000383811,;CRELD1,downstream_gene_variant,,ENST00000326434,;CRELD1,downstream_gene_variant,,ENST00000397170,;PRRT3-AS1,intron_variant,,ENST00000431558,;PRRT3,synonymous_variant,p.%3D,ENST00000295984,;	352	85	111	SUCCESS
TACR3	6870	.	GRCh37	4	104640417	104640417	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	15	111	0	ENST00000304883.2:c.416C>A	p.Thr139Lys	p.T139K	ENST00000304883	NM_001059.2	139	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS3664.1	416	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGTGTTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000303325	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	SNV	TACR3,missense_variant,p.Thr139Lys,ENST00000304883,;	557	111	108	SUCCESS
NDST3	9348	.	GRCh37	4	119154261	119154261	+	synonymous_variant	Silent	SNP	T	T	C	rs778561894	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	40	205	0	ENST00000296499.5:c.1914T>C	p.Asn638=	p.N638=	ENST00000296499	NM_004784.2	638	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS3708.1	1914	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATAGAAA	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296499	.	9/14	.	.	.	.	.	.	.	.	rs778561894	9/14	PASS	ENST00000296499	Transcript	.	.	ENSG00000164100	7682	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NDST3_HUMAN	NDST3	HGNC	.	.	UPI0000071C44	SNV	NDST3,synonymous_variant,p.%3D,ENST00000296499,;NDST3,intron_variant,,ENST00000433996,;	2317	205	212	SUCCESS
DCHS2	54798	.	GRCh37	4	155226013	155226013	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	44	345	0	ENST00000357232.4:c.4048G>T	p.Gly1350Ter	p.G1350*	ENST00000357232	NM_017639.3	1350	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS3785.1	4048	RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCCCCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,stop_gained,p.Gly1350Ter,ENST00000357232,;	4048	345	283	SUCCESS
ENPP6	133121	.	GRCh37	4	185038169	185038169	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139781867	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	26	109	0	ENST00000296741.2:c.695G>A	p.Arg232His	p.R232H	ENST00000296741	NM_153343.3	232	cGc/cAc	0	T:0.0009	T:0.0015	.	T:0	.	T	R/H	protein_coding	YES	CCDS3834.1	695	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCGGTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10151:SF66,hmmpanther:PTHR10151,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	T:0	T:0	ENSP00000296741	T:0	5/8	.	.	.	.	.	.	.	.	rs139781867	5/8	PASS	ENST00000296741	Transcript	.	T:0.0004	ENSG00000164303	23409	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	T:0	tolerated(0.08)	.	ENPP6_HUMAN	ENPP6	HGNC	D6R9P1_HUMAN	.	UPI0000073C89	SNV	ENPP6,missense_variant,p.Arg144His,ENST00000512353,;ENPP6,missense_variant,p.Arg232His,ENST00000296741,;ENPP6,non_coding_transcript_exon_variant,,ENST00000510054,;	837	109	142	SUCCESS
EPHA5	2044	.	GRCh37	4	66361224	66361224	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	34	187	0	ENST00000273854.3:c.948C>T	p.Ile316=	p.I316=	ENST00000273854	NM_004439.5	316	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3513.1	948	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGATGTG	NONE	.	.	hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000273854	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,synonymous_variant,p.%3D,ENST00000273854,;EPHA5,synonymous_variant,p.%3D,ENST00000511294,;EPHA5,synonymous_variant,p.%3D,ENST00000354839,;EPHA5,intron_variant,,ENST00000432638,;	1549	187	190	SUCCESS
MUC7	4589	.	GRCh37	4	71346814	71346814	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	28	135	0	ENST00000304887.5:c.353C>T	p.Ser118Leu	p.S118L	ENST00000304887	NM_152291.2	118	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3541.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCAGCTT	BUFFER|p.S120Y|c.359C>A|3	.	.	.	.	.	ENSP00000407422	.	4/4	.	.	.	.	.	.	.	.	COSM3373547	4/4	PASS	ENST00000413702	Transcript	1	.	ENSG00000171195	7518	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.895)	.	deleterious(0.01)	1	MUC7_HUMAN	MUC7	HGNC	D6RHX1_HUMAN	.	UPI000013E9DD	SNV	MUC7,missense_variant,p.Ser118Leu,ENST00000413702,;MUC7,missense_variant,p.Ser118Leu,ENST00000505411,;MUC7,missense_variant,p.Ser118Leu,ENST00000456088,;MUC7,missense_variant,p.Ser118Leu,ENST00000304887,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;	641	135	140	SUCCESS
FRAS1	80144	.	GRCh37	4	79328918	79328918	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	26	143	0	ENST00000264895.6:c.4231C>T	p.Gln1411Ter	p.Q1411*	ENST00000264895	NM_025074.6	1411	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS54771.1	4231	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCAGCAG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	31/74	.	.	.	.	.	.	.	.	.	31/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,stop_gained,p.Gln1411Ter,ENST00000325942,;FRAS1,stop_gained,p.Gln1411Ter,ENST00000264895,;	4671	143	187	SUCCESS
FRAS1	80144	.	GRCh37	4	79455713	79455713	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779623280	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	19	114	0	ENST00000264895.6:c.11036C>T	p.Pro3679Leu	p.P3679L	ENST00000264895	NM_025074.6	3679	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54771.1	11036	RADIA|MUTECT|MUSE|VARSCANS	.	GGATCCCAATA	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	71/74	.	.	.	.	.	.	.	.	rs779623280	71/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Pro1908Leu,ENST00000512123,;FRAS1,missense_variant,p.Pro3679Leu,ENST00000264895,;	11476	114	120	SUCCESS
PCDHA6	56142	.	GRCh37	5	140210049	140210049	+	synonymous_variant	Silent	SNP	A	A	G	rs782211444	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	11	119	0	ENST00000529310.1:c.2373A>G	p.Leu791=	p.L791=	ENST00000529310	NM_018909.2	791	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS47281.1	2373	MUTECT|MUSE	.	GATTTAAATGA	NONE	.	.	hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	rs782211444	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,synonymous_variant,p.%3D,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	2487	119	144	SUCCESS
PCDHB1	29930	.	GRCh37	5	140432442	140432442	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	20	124	0	ENST00000306549.3:c.1387G>A	p.Glu463Lys	p.E463K	ENST00000306549	NM_013340.2	463	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4243.1	1387	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGAGAAAAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,missense_variant,p.Glu463Lys,ENST00000306549,;	1464	124	132	SUCCESS
PCDHGA6	56109	.	GRCh37	5	140753695	140753695	+	synonymous_variant	Silent	SNP	G	G	T	rs376765941	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	42	109	0	ENST00000517434.1:c.45G>T	p.Leu15=	p.L15=	ENST00000517434	NM_018919.2	15	ctG/ctT	0	T:0.0003	.	.	.	.	T	L	protein_coding	YES	CCDS54926.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107	.	T:0	ENSP00000429601	.	1/4	.	.	.	.	.	.	.	.	rs376765941	1/4	PASS	ENST00000517434	Transcript	.	.	ENSG00000253731	8704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG6_HUMAN	PCDHGA6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000715C8	SNV	PCDHGA6,synonymous_variant,p.%3D,ENST00000517434,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;	45	109	158	SUCCESS
DOCK2	1794	.	GRCh37	5	169483728	169483728	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750405913	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	16	140	0	ENST00000256935.8:c.4336C>T	p.Arg1446Trp	p.R1446W	ENST00000256935	NM_004946.2	1446	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4371.1	4336	MUTECT|MUSE|VARSCANS	.	ACTCCCGGCCC	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000256935	.	43/52	.	.	.	.	.	.	.	.	rs750405913	43/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.703)	.	deleterious(0.01)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Arg507Trp,ENST00000540750,;DOCK2,missense_variant,p.Arg1446Trp,ENST00000256935,;DOCK2,missense_variant,p.Arg938Trp,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	4416	140	178	SUCCESS
SYNE1	23345	.	GRCh37	6	152674871	152674871	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201704617	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	20	108	0	ENST00000367255.5:c.10935C>A	p.His3645Gln	p.H3645Q	ENST00000367255	NM_182961.3	3645	caC/caA	0	A:0	.	.	.	.	T	H/Q	protein_coding	YES	CCDS5236.2	10935	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGTGCCA	NONE	byCluster	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	A:0.0001	ENSP00000356224	.	68/146	.	.	.	.	.	.	.	.	rs201704617	68/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.His3630Gln,ENST00000448038,;SYNE1,missense_variant,p.His3645Gln,ENST00000367255,;SYNE1,missense_variant,p.His3630Gln,ENST00000423061,;SYNE1,missense_variant,p.His3616Gln,ENST00000341594,;SYNE1,missense_variant,p.His3645Gln,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	11537	108	117	SUCCESS
DNAH8	1769	.	GRCh37	6	38781906	38781906	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs756616538	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	19	133	0	ENST00000359357.3:c.2682+1G>T		p.X894_splice	ENST00000359357		894		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGTAAGT	NONE	.	.	.	.	.	ENSP00000352312	.	.	.	.	.	.	.	.	.	.	rs756616538	.	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	HIGH	23/90	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,splice_donor_variant,,ENST00000359357,;DNAH8,splice_donor_variant,,ENST00000327475,;DNAH8,splice_donor_variant,,ENST00000441566,;DNAH8,splice_donor_variant,,ENST00000449981,;	.	133	136	SUCCESS
EPHA7	2045	.	GRCh37	6	94124469	94124469	+	synonymous_variant	Silent	SNP	A	A	T	rs778907796	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	9	83	0	ENST00000369303.4:c.114T>A	p.Ser38=	p.S38=	ENST00000369303	NM_004440.3	38	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5031.1	114	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTAGAATC	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000358309	.	2/17	.	.	.	.	.	.	.	.	rs778907796	2/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,synonymous_variant,p.%3D,ENST00000369303,;EPHA7,synonymous_variant,p.%3D,ENST00000369297,;	299	83	63	SUCCESS
SRPK2	6733	.	GRCh37	7	104787043	104787043	+	synonymous_variant	Silent	SNP	C	C	T	rs369405262	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	25	269	1	ENST00000357311.3:c.651G>A	p.Pro217=	p.P217=	ENST00000357311	NM_182691.2	217	ccG/ccA	0	T:0	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS34724.1	684	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCGGCTT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF102,hmmpanther:PTHR24055,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	A:0	T:0.0001	ENSP00000377262	A:0.001	8/16	.	.	.	.	.	.	.	.	rs369405262	8/16	PASS	ENST00000393651	Transcript	.	A:0.0002	ENSG00000135250	11306	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SRPK2_HUMAN	SRPK2	HGNC	.	.	UPI00001A4785	SNV	SRPK2,synonymous_variant,p.%3D,ENST00000357311,;SRPK2,synonymous_variant,p.%3D,ENST00000393651,;SRPK2,synonymous_variant,p.%3D,ENST00000489828,;SRPK2,upstream_gene_variant,,ENST00000477925,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,upstream_gene_variant,,ENST00000466917,;	772	271	246	SUCCESS
SLC13A1	6561	.	GRCh37	7	122787291	122787291	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	25	144	0	ENST00000194130.2:c.734C>G	p.Ala245Gly	p.A245G	ENST00000194130	NM_022444.3	245	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS5786.1	734	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGGCAATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF65,Pfam_domain:PF00939	.	.	ENSP00000194130	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000194130	Transcript	.	.	ENSG00000081800	10916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.923)	.	deleterious(0.01)	.	S13A1_HUMAN	SLC13A1	HGNC	Q75MH3_HUMAN,Q75LT0_HUMAN,A4D0X1_HUMAN	.	UPI0000049F9D	SNV	SLC13A1,missense_variant,p.Ala245Gly,ENST00000194130,;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;	774	144	147	SUCCESS
NUP205	23165	.	GRCh37	7	135269705	135269705	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs961820512	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	17	138	0	ENST00000285968.6:c.1168C>T	p.Arg390Cys	p.R390C	ENST00000285968	NM_015135.2	390	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS34759.1	1168	RADIA|MUTECT|MUSE|VARSCANS	.	ATATTCGCAGA	NONE	.	.	hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	.	.	ENSP00000285968	.	8/43	.	.	.	.	.	.	.	.	.	8/43	PASS	ENST00000285968	Transcript	.	.	ENSG00000155561	18658	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NU205_HUMAN	NUP205	HGNC	Q6P486_HUMAN,Q6DKH1_HUMAN	.	UPI00001D74D8	SNV	NUP205,missense_variant,p.Arg184Cys,ENST00000440390,;NUP205,missense_variant,p.Arg390Cys,ENST00000285968,;	1194	138	133	SUCCESS
INTS1	26173	.	GRCh37	7	1517435	1517435	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781720568	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	19	81	0	ENST00000404767.3:c.4768G>A	p.Glu1590Lys	p.E1590K	ENST00000404767	NM_001080453.2	1590	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47526.1	4768	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	.	.	ENSP00000385722	.	34/48	.	.	.	.	.	.	.	.	rs781720568	34/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated(0.06)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Glu1590Lys,ENST00000404767,;INTS1,missense_variant,p.Glu1789Lys,ENST00000389470,;INTS1,upstream_gene_variant,,ENST00000483196,;INTS1,upstream_gene_variant,,ENST00000493446,;INTS1,upstream_gene_variant,,ENST00000482994,;INTS1,downstream_gene_variant,,ENST00000468115,;	4854	81	136	SUCCESS
DPP6	1804	.	GRCh37	7	154263941	154263941	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	160	0	ENST00000377770.3:c.567C>T	p.Ala189=	p.A189=	ENST00000377770		189	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	.	567	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCATCAG	NONE	.	.	Superfamily_domains:SSF82171,Gene3D:2.140.10.30,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,synonymous_variant,p.%3D,ENST00000427557,;DPP6,synonymous_variant,p.%3D,ENST00000377770,;DPP6,synonymous_variant,p.%3D,ENST00000406326,;DPP6,synonymous_variant,p.%3D,ENST00000332007,;DPP6,synonymous_variant,p.%3D,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000496611,;	708	160	118	SUCCESS
ITGB8	3696	.	GRCh37	7	20445703	20445703	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	21	126	0	ENST00000222573.4:c.1932T>A	p.Leu644=	p.L644=	ENST00000222573	NM_002214.2	644	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5370.1	1932	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTTCACCC	NONE	.	.	hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002512	.	.	ENSP00000222573	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000222573	Transcript	.	.	ENSG00000105855	6163	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITB8_HUMAN	ITGB8	HGNC	B4DHD4_HUMAN	.	UPI000012DA14	SNV	ITGB8,synonymous_variant,p.%3D,ENST00000222573,;ITGB8,synonymous_variant,p.%3D,ENST00000537992,;	2616	126	125	SUCCESS
PDE1C	5137	.	GRCh37	7	31877505	31877505	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	94	0	ENST00000321453.7:c.1061C>T	p.Thr354Ile	p.T354I	ENST00000321453	NM_001191059.1	354	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS55100.1	1241	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGTCTTC	NONE	.	.	hmmpanther:PTHR11347:SF32,hmmpanther:PTHR11347,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000379496	.	11/19	.	.	.	.	.	.	.	.	COSM600943,COSM600942,COSM1144542	11/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	benign(0.009)	.	deleterious(0.01)	1,1,1	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Thr354Ile,ENST00000396184,;PDE1C,missense_variant,p.Thr354Ile,ENST00000396191,;PDE1C,missense_variant,p.Thr414Ile,ENST00000396193,;PDE1C,missense_variant,p.Thr354Ile,ENST00000321453,;PDE1C,missense_variant,p.Thr354Ile,ENST00000396182,;	1835	94	103	SUCCESS
ZNF716	441234	.	GRCh37	7	57509917	57509917	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	48	0	ENST00000420713.1:c.-78T>G		p.*26*	ENST00000420713	NM_001159279.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55112.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTTCTCTT	NONE	.	.	.	.	.	ENSP00000394248	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,5_prime_UTR_variant,,ENST00000420713,;	35	48	50	SUCCESS
TYW1B	441250	.	GRCh37	7	72178586	72178586	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	355	91	424	0	ENST00000343721.5:c.241del	p.Glu81LysfsTer23	p.E81Kfs*23	ENST00000343721		81	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	.	.	241	INDELOCATOR|VARSCANI	.	TGATTTCCGCAG	NONE	.	.	hmmpanther:PTHR13930:SF0,hmmpanther:PTHR13930,Gene3D:3canA00,Pfam_domain:PF04055,Superfamily_domains:SSF102114	.	.	ENSP00000476766	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000343721	Transcript	.	.	ENSG00000254184	33908	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TYW1B	HGNC	B4DG43_HUMAN,B4DFY2_HUMAN	.	UPI00001980B4	deletion	TYW1B,frameshift_variant,p.Glu81LysfsTer23,ENST00000343721,;TYW1B,non_coding_transcript_exon_variant,,ENST00000438125,;TYW1B,frameshift_variant,p.Gly455GlufsTer?,ENST00000435769,;	547	424	446	SUCCESS
ABHD11	83451	.	GRCh37	7	73152420	73152420	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	54	0	ENST00000222800.3:c.288+238G>T		p.*96*	ENST00000222800	NM_148912.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5558.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCCCTTC	NONE	.	.	.	.	.	ENSP00000222800	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222800	Transcript	.	.	ENSG00000106077	16407	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDB_HUMAN	ABHD11	HGNC	D3DXF2_HUMAN	.	UPI0000043658	SNV	ABHD11,intron_variant,,ENST00000395147,;ABHD11,intron_variant,,ENST00000437775,;ABHD11,intron_variant,,ENST00000458339,;ABHD11,intron_variant,,ENST00000222800,;LINC00035,downstream_gene_variant,,ENST00000427153,;ABHD11,non_coding_transcript_exon_variant,,ENST00000468331,;ABHD11,non_coding_transcript_exon_variant,,ENST00000468998,;ABHD11,intron_variant,,ENST00000480445,;ABHD11,intron_variant,,ENST00000497897,;ABHD11,intron_variant,,ENST00000437891,;ABHD11,intron_variant,,ENST00000357419,;ABHD11,intron_variant,,ENST00000412965,;ABHD11,intron_variant,,ENST00000486114,;ABHD11,intron_variant,,ENST00000474130,;ABHD11,upstream_gene_variant,,ENST00000462381,;	.	54	62	SUCCESS
ABHD11	83451	.	GRCh37	7	73152421	73152421	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	54	0	ENST00000222800.3:c.288+237G>T		p.*96*	ENST00000222800	NM_148912.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5558.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCTTCA	NONE	.	.	.	.	.	ENSP00000222800	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222800	Transcript	.	.	ENSG00000106077	16407	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDB_HUMAN	ABHD11	HGNC	D3DXF2_HUMAN	.	UPI0000043658	SNV	ABHD11,intron_variant,,ENST00000395147,;ABHD11,intron_variant,,ENST00000437775,;ABHD11,intron_variant,,ENST00000458339,;ABHD11,intron_variant,,ENST00000222800,;LINC00035,downstream_gene_variant,,ENST00000427153,;ABHD11,non_coding_transcript_exon_variant,,ENST00000468331,;ABHD11,non_coding_transcript_exon_variant,,ENST00000468998,;ABHD11,intron_variant,,ENST00000480445,;ABHD11,intron_variant,,ENST00000497897,;ABHD11,intron_variant,,ENST00000437891,;ABHD11,intron_variant,,ENST00000357419,;ABHD11,intron_variant,,ENST00000412965,;ABHD11,intron_variant,,ENST00000486114,;ABHD11,intron_variant,,ENST00000474130,;ABHD11,upstream_gene_variant,,ENST00000462381,;	.	54	62	SUCCESS
YWHAG	7532	.	GRCh37	7	75988086	75988086	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	30	107	1	ENST00000307630.3:c.40G>A	p.Ala14Thr	p.A14T	ENST00000307630	NM_012479.3	14	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5584.1	40	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGCCAGCC	NONE	.	.	hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF2,Gene3D:3iquA00,Pfam_domain:PF00244,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Superfamily_domains:SSF48445	.	.	ENSP00000306330	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000307630	Transcript	.	.	ENSG00000170027	12852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.588)	.	deleterious_low_confidence(0.01)	.	1433G_HUMAN	YWHAG	HGNC	B4DHC4_HUMAN	.	UPI000000106B	SNV	YWHAG,missense_variant,p.Ala14Thr,ENST00000307630,;AC005522.6,upstream_gene_variant,,ENST00000395416,;	263	108	162	SUCCESS
ABCB1	5243	.	GRCh37	7	87196165	87196165	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs756530200	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	18	126	0	ENST00000265724.3:c.466A>T	p.Met156Leu	p.M156L	ENST00000265724	NM_000927.4	156	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS5608.1	466	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCATTATAG	NONE	.	.	PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265724	.	7/29	.	.	.	.	.	.	.	.	rs756530200	7/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(1)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Met156Leu,ENST00000265724,;ABCB1,intron_variant,,ENST00000543898,;	884	126	117	SUCCESS
CYP11B2	1585	.	GRCh37	8	143993483	143993483	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	90	188	0	ENST00000323110.2:c.1425A>G	p.Thr475=	p.T475=	ENST00000323110	NM_000498.3	475	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS6393.1	1425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGTGTCTC	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,synonymous_variant,p.%3D,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	1428	188	244	SUCCESS
CSMD1	64478	.	GRCh37	8	3081364	3081364	+	synonymous_variant	Silent	SNP	G	G	T	rs779530763	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	15	151	0	ENST00000537824.1:c.4371C>A	p.Gly1457=	p.G1457=	ENST00000537824	NM_033225.5	1457	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS55189.1	4371	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGCCCGT	NONE	byFrequency	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	28/70	.	.	.	.	.	.	.	.	rs779530763	28/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4371	152	131	SUCCESS
MYBL1	4603	.	GRCh37	8	67492397	67492397	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	16	95	0	ENST00000522677.3:c.1072T>C	p.Phe358Leu	p.F358L	ENST00000522677	NM_001080416.2	358	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS47867.1	1072	MUTECT|MUSE|VARSCANS	.	TGCAAATTCTG	NONE	.	.	hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641	.	.	ENSP00000429633	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000522677	Transcript	.	.	ENSG00000185697	7547	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	MYBA_HUMAN	MYBL1	HGNC	Q6LD85_HUMAN	.	UPI000012FADE	SNV	MYBL1,missense_variant,p.Phe358Leu,ENST00000522677,;MYBL1,missense_variant,p.Phe358Leu,ENST00000524176,;MYBL1,intron_variant,,ENST00000517885,;	1483	95	176	SUCCESS
SGK3	23678	.	GRCh37	8	67752248	67752248	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	64	131	1	ENST00000345714.4:c.752A>G	p.His251Arg	p.H251R	ENST00000345714		251	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS6195.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCACTTAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF121,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000379842	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000396596	Transcript	.	.	ENSG00000104205	10812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0)	.	SGK3_HUMAN	SGK3	HGNC	Q6FHV7_HUMAN,E5RK28_HUMAN,E5RJV7_HUMAN,E5RHR8_HUMAN	.	UPI000013591F	SNV	SGK3,missense_variant,p.His251Arg,ENST00000522398,;C8orf44-SGK3,missense_variant,p.His251Arg,ENST00000519289,;SGK3,missense_variant,p.His251Arg,ENST00000521198,;SGK3,missense_variant,p.His251Arg,ENST00000520976,;SGK3,missense_variant,p.His251Arg,ENST00000345714,;SGK3,missense_variant,p.His148Arg,ENST00000521152,;SGK3,missense_variant,p.His251Arg,ENST00000396596,;SGK3,downstream_gene_variant,,ENST00000522629,;SGK3,downstream_gene_variant,,ENST00000519396,;SGK3,non_coding_transcript_exon_variant,,ENST00000521435,;SGK3,upstream_gene_variant,,ENST00000523260,;	966	132	163	SUCCESS
SLC31A2	1318	.	GRCh37	9	115913317	115913317	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	16	0	ENST00000259392.3:c.-38A>G		p.*13*	ENST00000259392	NM_001860.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6788.1	.	RADIA|VARSCANS	.	GAGCGAGCAGA	NONE	.	.	.	.	.	ENSP00000259392	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000259392	Transcript	.	.	ENSG00000136867	11017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COPT2_HUMAN	SLC31A2	HGNC	Q53X94_HUMAN	.	UPI0000127EC4	SNV	SLC31A2,5_prime_UTR_variant,,ENST00000259392,;SLC31A2,non_coding_transcript_exon_variant,,ENST00000490809,;SLC31A2,5_prime_UTR_variant,,ENST00000374220,;	96	16	35	SUCCESS
DDX31	64794	.	GRCh37	9	135537950	135537950	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs367667543	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	18	260	0	ENST00000372153.1:c.523G>A	p.Ala175Thr	p.A175T	ENST00000372153		175	Gca/Aca	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS6951.1	523	MUTECT|MUSE|VARSCANS	.	TTGTGCGTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF89	.	T:0.0001	ENSP00000361232	.	2/20	.	.	.	.	.	.	.	.	rs367667543	2/20	PASS	ENST00000372159	Transcript	.	.	ENSG00000125485	16715	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.39)	.	DDX31_HUMAN	DDX31	HGNC	.	.	UPI00000736CA	SNV	DDX31,missense_variant,p.Ala175Thr,ENST00000372159,;DDX31,missense_variant,p.Ala79Thr,ENST00000544003,;DDX31,missense_variant,p.Ala46Thr,ENST00000438527,;DDX31,missense_variant,p.Ala175Thr,ENST00000310532,;DDX31,missense_variant,p.Ala175Thr,ENST00000372153,;DDX31,non_coding_transcript_exon_variant,,ENST00000480876,;DDX31,non_coding_transcript_exon_variant,,ENST00000482620,;	675	260	230	SUCCESS
NELFB	25920	.	GRCh37	9	140151427	140151427	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	33	0	ENST00000343053.4:c.518A>G	p.Glu173Gly	p.E173G	ENST00000343053	NM_015456.3	173	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS7040.1	518	RADIA|VARSCANS	.	GAAGGAGAGCG	NONE	.	.	hmmpanther:PTHR13503,Pfam_domain:PF06209	.	.	ENSP00000339495	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,missense_variant,p.Glu173Gly,ENST00000343053,;C9orf173,downstream_gene_variant,,ENST00000412566,;C9orf173,downstream_gene_variant,,ENST00000388931,;	855	33	51	SUCCESS
MAGEC3	139081	.	GRCh37	X	140985121	140985121	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	66	0	ENST00000298296.1:c.1577A>G	p.Glu526Gly	p.E526G	ENST00000298296	NM_138702.1	526	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14676.1	1577	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGAAGACA	BUFFER|p.F524L|c.1572C>A|3	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47,Pfam_domain:PF01454	.	.	ENSP00000298296	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.707)	.	tolerated(0.06)	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,missense_variant,p.Glu526Gly,ENST00000298296,;MAGEC3,missense_variant,p.Glu228Gly,ENST00000544766,;MAGEC3,missense_variant,p.Glu228Gly,ENST00000409007,;MAGEC3,missense_variant,p.Glu148Gly,ENST00000443323,;MAGEC3,missense_variant,p.Glu228Gly,ENST00000536088,;MAGEC3,downstream_gene_variant,,ENST00000448920,;MAGEC3,downstream_gene_variant,,ENST00000483584,;	1577	66	40	SUCCESS
GABRQ	55879	.	GRCh37	X	151821044	151821044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	54	142	0	ENST00000370306.2:c.1199C>A	p.Pro400His	p.P400H	ENST00000370306	NM_018558.3	400	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS14707.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCCCATCA	NONE	.	.	Prints_domain:PR01725,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	.	.	ENSP00000359329	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.1)	.	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,missense_variant,p.Pro400His,ENST00000370306,;	1219	142	144	SUCCESS
MPP1	4354	.	GRCh37	X	154013425	154013425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	56	0	ENST00000369534.3:c.685G>A	p.Ala229Thr	p.A229T	ENST00000369534	NM_001166461.1	229	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS14762.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCCACTC	NONE	.	.	hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	.	.	ENSP00000358547	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000369534	Transcript	.	.	ENSG00000130830	7219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	EM55_HUMAN	MPP1	HGNC	A8MTH1_HUMAN	.	UPI0000129E86	SNV	MPP1,missense_variant,p.Ala209Thr,ENST00000393531,;MPP1,missense_variant,p.Ala199Thr,ENST00000413259,;MPP1,missense_variant,p.Ala183Thr,ENST00000393529,;MPP1,missense_variant,p.Ala126Thr,ENST00000428488,;MPP1,missense_variant,p.Ala103Thr,ENST00000453245,;MPP1,missense_variant,p.Ala229Thr,ENST00000369534,;MPP1,downstream_gene_variant,,ENST00000369531,;MPP1,non_coding_transcript_exon_variant,,ENST00000488754,;MPP1,non_coding_transcript_exon_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000488694,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,non_coding_transcript_exon_variant,,ENST00000493871,;MPP1,non_coding_transcript_exon_variant,,ENST00000475943,;MPP1,intron_variant,,ENST00000494170,;MPP1,upstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000417435,;MPP1,upstream_gene_variant,,ENST00000491955,;	833	56	65	SUCCESS
IL9R	3581	.	GRCh37	X	155239667	155239667	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	31	196	0	ENST00000244174.5:c.1159C>A	p.Leu387Met	p.L387M	ENST00000244174	NM_002186.2	387	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS14771.4	1159	RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTGAGC	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.66)	.	tolerated(0.22)	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,missense_variant,p.Leu387Met,ENST00000244174,;IL9R,missense_variant,p.Leu366Met,ENST00000424344,;IL9R,3_prime_UTR_variant,,ENST00000369423,;IL9R,3_prime_UTR_variant,,ENST00000540897,;WASIR1,downstream_gene_variant,,ENST00000399966,;IL9R,downstream_gene_variant,,ENST00000494962,;AJ271736.10,intron_variant,,ENST00000483543,;	1338	196	225	SUCCESS
MAP3K15	389840	.	GRCh37	X	19418728	19418728	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs750706947	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	53	0	ENST00000338883.4:c.1898A>G	p.Glu633Gly	p.E633G	ENST00000338883	NM_001001671.3	633	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	.	1898	RADIA|VARSCANS	.	CCAGCTCCACC	NONE	byFrequency	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363	.	.	ENSP00000345629	.	14/29	.	.	.	.	.	.	.	.	rs750706947	14/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.071)	.	deleterious(0.03)	.	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,missense_variant,p.Glu465Gly,ENST00000469203,;MAP3K15,missense_variant,p.Glu68Gly,ENST00000359173,;MAP3K15,missense_variant,p.Glu633Gly,ENST00000338883,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	1898	53	42	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4967591	4967591	+	synonymous_variant	Silent	SNP	C	C	A	rs764664548	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	119	0	ENST00000400457.2:c.1909C>A	p.Arg637=	p.R637=	ENST00000400457	NM_032973.2	637	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS14777.1	1972	RADIA|SOMATICSNIPER|VARSCANS	.	TCATCCGACCA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	rs764664548	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,synonymous_variant,p.%3D,ENST00000215473,;PCDH11Y,synonymous_variant,p.%3D,ENST00000333703,;PCDH11Y,synonymous_variant,p.%3D,ENST00000400457,;PCDH11Y,synonymous_variant,p.%3D,ENST00000362095,;	2706	119	77	SUCCESS
SORCS1	114815	.	GRCh37	10	108389095	108389095	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	93	0	ENST00000263054.6:c.2527G>A	p.Val843Met	p.V843M	ENST00000263054	NM_001206570.1	843	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS31283.1	2527	MUTECT|MUSE|VARSCANS	.	AGACACCGCGA	NONE	.	.	PROSITE_profiles:PS50093,hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106,Gene3D:2.60.40.670,Pfam_domain:PF00801,Superfamily_domains:SSF49299	.	.	ENSP00000345964	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.517)	.	deleterious(0.02)	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Val843Met,ENST00000263054,;SORCS1,missense_variant,p.Val378Met,ENST00000369698,;SORCS1,missense_variant,p.Val843Met,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000486192,;	2527	94	76	SUCCESS
TDRD1	56165	.	GRCh37	10	115986999	115986999	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1427630152	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	55	217	0	ENST00000251864.2:c.3344T>G	p.Leu1115Arg	p.L1115R	ENST00000251864	NM_198795.1	1115	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS7588.1	3344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGCTAGTGA	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4	.	.	ENSP00000251864	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,missense_variant,p.Leu1001Arg,ENST00000369281,;TDRD1,missense_variant,p.Leu1115Arg,ENST00000251864,;TDRD1,intron_variant,,ENST00000369282,;TDRD1,intron_variant,,ENST00000369280,;TDRD1,intron_variant,,ENST00000422662,;	3497	217	170	SUCCESS
HSPA12A	259217	.	GRCh37	10	118458224	118458224	+	synonymous_variant	Silent	SNP	C	C	A	rs782794664	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	112	0	ENST00000369209.3:c.468G>T	p.Thr156=	p.T156=	ENST00000369209	NM_025015.2	156	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41569.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46,Superfamily_domains:SSF53067	.	.	ENSP00000358211	.	5/12	.	.	.	.	.	.	.	.	rs782794664	5/12	PASS	ENST00000369209	Transcript	.	.	ENSG00000165868	19022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS12A_HUMAN	HSPA12A	HGNC	.	.	UPI00001B3DE3	SNV	HSPA12A,synonymous_variant,p.%3D,ENST00000369209,;HSPA12A,downstream_gene_variant,,ENST00000468935,;HSPA12A,non_coding_transcript_exon_variant,,ENST00000481291,;	573	112	82	SUCCESS
DMBT1	1755	.	GRCh37	10	124377713	124377713	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1292686776	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	90	0	ENST00000338354.3:c.4685C>A	p.Ala1562Asp	p.A1562D	ENST00000338354		1562	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS44490.1	4685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGCCCAGT	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	38/53	.	.	.	.	.	.	.	.	.	38/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Ala934Asp,ENST00000368956,;DMBT1,missense_variant,p.Ala413Asp,ENST00000359586,;DMBT1,missense_variant,p.Ala934Asp,ENST00000330163,;DMBT1,missense_variant,p.Ala1552Asp,ENST00000344338,;DMBT1,missense_variant,p.Ala1552Asp,ENST00000368955,;DMBT1,missense_variant,p.Ala1562Asp,ENST00000368909,;DMBT1,missense_variant,p.Ala1562Asp,ENST00000338354,;	4791	90	52	SUCCESS
GPR158	57512	.	GRCh37	10	25861801	25861801	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	185	0	ENST00000376351.3:c.1738T>A	p.Tyr580Asn	p.Y580N	ENST00000376351	NM_020752.2	580	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS31166.1	1738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTACATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003	.	.	ENSP00000365529	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Tyr580Asn,ENST00000376351,;	2097	185	93	SUCCESS
PARD3	56288	.	GRCh37	10	34690758	34690758	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	70	0	ENST00000374789.3:c.802C>G	p.Leu268Val	p.L268V	ENST00000374789	NM_019619.3	268	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS7178.1	802	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGAGAAA	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000363921	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.77)	.	tolerated(0.1)	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,missense_variant,p.Leu224Val,ENST00000545260,;PARD3,missense_variant,p.Leu268Val,ENST00000545693,;PARD3,missense_variant,p.Leu268Val,ENST00000374788,;PARD3,missense_variant,p.Leu268Val,ENST00000340077,;PARD3,missense_variant,p.Leu224Val,ENST00000374790,;PARD3,missense_variant,p.Leu268Val,ENST00000374776,;PARD3,missense_variant,p.Leu268Val,ENST00000374773,;PARD3,missense_variant,p.Leu224Val,ENST00000374794,;PARD3,missense_variant,p.Leu268Val,ENST00000350537,;PARD3,missense_variant,p.Leu268Val,ENST00000374789,;PARD3,missense_variant,p.Leu268Val,ENST00000346874,;PARD3,5_prime_UTR_variant,,ENST00000544292,;	1128	70	42	SUCCESS
GDF2	2658	.	GRCh37	10	48413759	48413759	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	17	140	0	ENST00000249598.1:c.1109C>T	p.Pro370Leu	p.P370L	ENST00000249598	NM_016204.1	370	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7219.1	1109	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCGGCGTC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000249598	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	deleterious(0.03)	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,missense_variant,p.Pro370Leu,ENST00000249598,;	1269	140	128	SUCCESS
PCDH15	65217	.	GRCh37	10	55568668	55568668	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	46	243	0	ENST00000395440.1:c.1944T>A	p.Ala648=	p.A648=	ENST00000395440		648	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	.	.	1944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGCTTC	NONE	.	.	hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027	.	.	ENSP00000378827	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000395440	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E5_HUMAN,A2A3D9_HUMAN	.	UPI0000EE0486	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000395440,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000395442,;PCDH15,synonymous_variant,p.%3D,ENST00000395446,;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	2339	243	194	SUCCESS
KIF11	3832	.	GRCh37	10	94369152	94369152	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	82	0	ENST00000260731.3:c.584T>C	p.Ile195Thr	p.I195T	ENST00000260731	NM_004523.3	195	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7422.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGATAATTA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF105,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260731	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000260731	Transcript	1	.	ENSG00000138160	6388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.375)	.	deleterious(0.03)	.	KIF11_HUMAN	KIF11	HGNC	.	.	UPI000013D0FC	SNV	KIF11,missense_variant,p.Ile195Thr,ENST00000260731,;	674	82	53	SUCCESS
C11orf87	399947	.	GRCh37	11	109294862	109294862	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	65	0	ENST00000327419.6:c.503C>A	p.Pro168Gln	p.P168Q	ENST00000327419	NM_207645.3	168	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS31672.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCGCCAG	CODON|p.P168L|c.503C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31870:SF2,hmmpanther:PTHR31870	.	.	ENSP00000331581	.	2/2	.	.	.	.	.	.	.	.	COSM290775	2/2	PASS	ENST00000327419	Transcript	.	.	ENSG00000185742	33788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.028)	.	tolerated_low_confidence(0.08)	1	CK087_HUMAN	C11orf87	HGNC	.	.	UPI000013E5BC	SNV	C11orf87,missense_variant,p.Pro168Gln,ENST00000327419,;RP11-708B6.2,intron_variant,,ENST00000532929,;RP11-708B6.2,intron_variant,,ENST00000532992,;	906	65	59	SUCCESS
FXYD6	53826	.	GRCh37	11	117710551	117710551	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	19	194	0	ENST00000260282.4:c.260-6T>C		p.X87_splice	ENST00000260282	NM_001164836.2	87		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8387.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAAAGAAA	NONE	.	.	.	.	.	ENSP00000433312	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000526014	Transcript	.	.	ENSG00000137726	4030	.	.	LOW	6/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FXYD6_HUMAN	FXYD6	HGNC	.	.	UPI0000037BAF	SNV	FXYD6,splice_region_variant,,ENST00000540359,;FXYD6,splice_region_variant,,ENST00000529335,;FXYD6,splice_region_variant,,ENST00000524656,;FXYD6,splice_region_variant,,ENST00000260282,;FXYD6,splice_region_variant,,ENST00000584394,;FXYD6,splice_region_variant,,ENST00000539526,;FXYD6,splice_region_variant,,ENST00000527717,;FXYD6,splice_region_variant,,ENST00000530956,;FXYD6-FXYD2,splice_region_variant,,ENST00000532984,;FXYD6,splice_region_variant,,ENST00000526014,;FXYD6,3_prime_UTR_variant,,ENST00000527429,;FXYD6,downstream_gene_variant,,ENST00000584230,;RP11-728F11.4,downstream_gene_variant,,ENST00000581173,;RP11-728F11.4,downstream_gene_variant,,ENST00000534150,;RP11-728F11.4,downstream_gene_variant,,ENST00000525260,;FXYD6,splice_region_variant,,ENST00000579486,;FXYD6,splice_region_variant,,ENST00000583233,;FXYD6,splice_region_variant,,ENST00000583660,;FXYD6,splice_region_variant,,ENST00000524841,;FXYD6,downstream_gene_variant,,ENST00000534125,;FXYD6,downstream_gene_variant,,ENST00000527053,;	.	194	139	SUCCESS
CLMP	79827	.	GRCh37	11	123065715	123065715	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	20	0	ENST00000448775.2:c.-67G>C		p.*23*	ENST00000448775	NM_024769.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8441.1	.	MUTECT|MUSE	.	CGCCTCCGACG	NONE	.	.	.	.	.	ENSP00000405577	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000448775	Transcript	.	.	ENSG00000166250	24039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLMP_HUMAN	CLMP	HGNC	.	.	UPI0000047815	SNV	CLMP,5_prime_UTR_variant,,ENST00000448775,;CTD-2216M2.1,intron_variant,,ENST00000531681,;	275	20	18	SUCCESS
SYT8	90019	.	GRCh37	11	1858034	1858034	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	95	0	ENST00000381968.3:c.775T>A	p.Ser259Thr	p.S259T	ENST00000381968	NM_138567.3	259	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS7726.2	775	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCAGGC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF36,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562,Prints_domain:PR00399	.	.	ENSP00000371394	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000381968	Transcript	.	.	ENSG00000149043	19264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.145)	.	tolerated(0.39)	.	SYT8_HUMAN	SYT8	HGNC	C9K032_HUMAN,C9J253_HUMAN,A6NCR4_HUMAN	.	UPI000066D8CE	SNV	SYT8,missense_variant,p.Ser259Thr,ENST00000381968,;SYT8,missense_variant,p.Ser245Thr,ENST00000341958,;SYT8,missense_variant,p.Ser258Thr,ENST00000381978,;SYT8,3_prime_UTR_variant,,ENST00000535046,;TNNI2,upstream_gene_variant,,ENST00000381911,;SYT8,downstream_gene_variant,,ENST00000430303,;SYT8,downstream_gene_variant,,ENST00000417052,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381905,;SYT8,downstream_gene_variant,,ENST00000436964,;TNNI2,upstream_gene_variant,,ENST00000381906,;SYT8,downstream_gene_variant,,ENST00000483280,;SYT8,3_prime_UTR_variant,,ENST00000424556,;SYT8,non_coding_transcript_exon_variant,,ENST00000479276,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,non_coding_transcript_exon_variant,,ENST00000464897,;SYT8,non_coding_transcript_exon_variant,,ENST00000479089,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000482118,;TNNI2,upstream_gene_variant,,ENST00000468473,;	903	95	77	SUCCESS
MRGPRX1	259249	.	GRCh37	11	18955787	18955787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1309719773	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	78	1	ENST00000302797.3:c.545C>T	p.Ala182Val	p.A182V	ENST00000302797	NM_147199.3	182	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7846.1	545	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCGACT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF22,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302797	Transcript	.	.	ENSG00000170255	17962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.09)	.	MRGX1_HUMAN	MRGPRX1	HGNC	.	.	UPI000003BCCF	SNV	MRGPRX1,missense_variant,p.Ala182Val,ENST00000302797,;RP11-583F24.8,upstream_gene_variant,,ENST00000528646,;MRGPRX1,non_coding_transcript_exon_variant,,ENST00000526914,;	770	79	67	SUCCESS
TNNT3	7140	.	GRCh37	11	1955638	1955638	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	12	75	0	ENST00000397301.1:c.476C>T	p.Ser159Phe	p.S159F	ENST00000397301		159	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS7727.1	443	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCTTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF4,Pfam_domain:PF00992,Superfamily_domains:SSF90250	.	.	ENSP00000278317	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000278317	Transcript	.	.	ENSG00000130595	11950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	TNNT3_HUMAN	TNNT3	HGNC	.	.	UPI000013DB6C	SNV	TNNT3,missense_variant,p.Ser150Phe,ENST00000381548,;TNNT3,missense_variant,p.Ser134Phe,ENST00000381557,;TNNT3,missense_variant,p.Ser129Phe,ENST00000453458,;TNNT3,missense_variant,p.Ser146Phe,ENST00000381589,;TNNT3,missense_variant,p.Ser129Phe,ENST00000446240,;TNNT3,missense_variant,p.Ser140Phe,ENST00000381558,;TNNT3,missense_variant,p.Ser142Phe,ENST00000360603,;TNNT3,missense_variant,p.Ser151Phe,ENST00000381563,;TNNT3,missense_variant,p.Ser129Phe,ENST00000397304,;TNNT3,missense_variant,p.Ser151Phe,ENST00000381561,;TNNT3,missense_variant,p.Ser140Phe,ENST00000381549,;TNNT3,missense_variant,p.Ser140Phe,ENST00000381579,;TNNT3,missense_variant,p.Ser159Phe,ENST00000397301,;TNNT3,missense_variant,p.Ser135Phe,ENST00000344578,;TNNT3,missense_variant,p.Ser148Phe,ENST00000278317,;TNNT3,non_coding_transcript_exon_variant,,ENST00000492075,;TNNT3,non_coding_transcript_exon_variant,,ENST00000493234,;TNNT3,upstream_gene_variant,,ENST00000473100,;	662	75	83	SUCCESS
BDNF	627	.	GRCh37	11	27681097	27681097	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	70	213	0	ENST00000356660.4:c.-21-965A>G		p.*7*	ENST00000356660	NM_001709.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44558.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTTCACTC	NONE	.	.	.	.	.	ENSP00000414303	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000438929	Transcript	.	.	ENSG00000176697	1033	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BDNF_HUMAN	BDNF	HGNC	S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN	.	UPI0001594492	SNV	BDNF,5_prime_UTR_variant,,ENST00000439476,;BDNF,5_prime_UTR_variant,,ENST00000525528,;BDNF,intron_variant,,ENST00000533131,;BDNF,intron_variant,,ENST00000438929,;BDNF,intron_variant,,ENST00000356660,;BDNF,intron_variant,,ENST00000532997,;BDNF,intron_variant,,ENST00000395981,;BDNF,intron_variant,,ENST00000420794,;BDNF,intron_variant,,ENST00000418212,;BDNF,intron_variant,,ENST00000395983,;BDNF,intron_variant,,ENST00000395980,;BDNF,intron_variant,,ENST00000525950,;BDNF,intron_variant,,ENST00000395978,;BDNF,intron_variant,,ENST00000395986,;BDNF,intron_variant,,ENST00000530861,;BDNF,intron_variant,,ENST00000314915,;BDNF,intron_variant,,ENST00000533246,;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000530313,;BDNF-AS,intron_variant,,ENST00000502161,;BDNF-AS,intron_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000499008,;BDNF-AS,intron_variant,,ENST00000501176,;BDNF-AS,intron_variant,,ENST00000499568,;BDNF-AS,intron_variant,,ENST00000500662,;BDNF-AS,downstream_gene_variant,,ENST00000532965,;BDNF,intron_variant,,ENST00000584049,;BDNF,intron_variant,,ENST00000530786,;	.	213	236	SUCCESS
OR5D18	219438	.	GRCh37	11	55587762	55587762	+	synonymous_variant	Silent	SNP	T	T	C	rs116682108	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	21	205	0	ENST00000333976.4:c.657T>C	p.Tyr219=	p.Y219=	ENST00000333976	NM_001001952.1	219	taT/taC	0	C:0.0086	C:0.0106	.	C:0.0014	.	C	Y	protein_coding	YES	CCDS31510.1	657	RADIA|MUSE|VARSCANS	.	TCTTATGCGTT	BUFFER|p.A220V|c.659C>T|4	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	C:0	C:0.0002	ENSP00000335025	C:0	1/1	.	.	.	.	.	.	.	.	rs116682108	1/1	common_in_exac	ENST00000333976	Transcript	.	C:0.0030	ENSG00000186119	15285	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0	.	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,synonymous_variant,p.%3D,ENST00000333976,;	677	205	149	SUCCESS
RBM14	10432	.	GRCh37	11	66384504	66384504	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	64	0	ENST00000310137.4:c.313G>T	p.Val105Phe	p.V105F	ENST00000310137	NM_006328.3	105	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS55774.1	313	RADIA|MUTECT|MUSE|VARSCANS	.	GACGCGTCATC	NONE	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF242,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000388552	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000412278	Transcript	.	.	ENSG00000248643	38840	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	.	RBM14-RBM4	HGNC	.	.	UPI0001641710	SNV	RBM14-RBM4,missense_variant,p.Val105Phe,ENST00000412278,;RBM14,missense_variant,p.Val105Phe,ENST00000310137,;RBM4,missense_variant,p.Val105Phe,ENST00000514361,;RBM14-RBM4,missense_variant,p.Val105Phe,ENST00000500635,;RBM14,missense_variant,p.Val105Phe,ENST00000443702,;RBM14,missense_variant,p.Val105Phe,ENST00000393979,;RBM14,missense_variant,p.Val105Phe,ENST00000409738,;RBM14,missense_variant,p.Val105Phe,ENST00000409372,;RBM4,5_prime_UTR_variant,,ENST00000503028,;RNU4-39P,upstream_gene_variant,,ENST00000362455,;RBM14-RBM4,non_coding_transcript_exon_variant,,ENST00000511114,;RBM14,non_coding_transcript_exon_variant,,ENST00000512283,;RBM14,upstream_gene_variant,,ENST00000496694,;RBM14,upstream_gene_variant,,ENST00000461478,;RBM14,upstream_gene_variant,,ENST00000460762,;RBM14-RBM4,missense_variant,p.Val105Phe,ENST00000421355,;	408	64	63	SUCCESS
STK33	65975	.	GRCh37	11	8496345	8496345	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	128	0	ENST00000315204.1:c.108A>G	p.Pro36=	p.P36=	ENST00000315204	NM_030906.2	36	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7789.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTGGAGG	NONE	.	.	hmmpanther:PTHR24347:SF133,hmmpanther:PTHR24347	.	.	ENSP00000416750	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000447869	Transcript	.	.	ENSG00000130413	14568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK33_HUMAN	STK33	HGNC	F8WAK5_HUMAN,E9PNP9_HUMAN,C9JCS6_HUMAN,C9J8B1_HUMAN,C9J6X7_HUMAN,C9J5G1_HUMAN,C9J319_HUMAN,B4DDH2_HUMAN	.	UPI000004496E	SNV	STK33,synonymous_variant,p.%3D,ENST00000457885,;STK33,synonymous_variant,p.%3D,ENST00000315204,;STK33,synonymous_variant,p.%3D,ENST00000454443,;STK33,synonymous_variant,p.%3D,ENST00000396672,;STK33,synonymous_variant,p.%3D,ENST00000431279,;STK33,synonymous_variant,p.%3D,ENST00000396673,;STK33,synonymous_variant,p.%3D,ENST00000447869,;STK33,5_prime_UTR_variant,,ENST00000422559,;STK33,5_prime_UTR_variant,,ENST00000418597,;STK33,5_prime_UTR_variant,,ENST00000534493,;STK33,intron_variant,,ENST00000358872,;STK33,upstream_gene_variant,,ENST00000524760,;STK33,downstream_gene_variant,,ENST00000526360,;STK33,intron_variant,,ENST00000526517,;STK33,non_coding_transcript_exon_variant,,ENST00000532336,;	1027	128	83	SUCCESS
FOLR4	0	.	GRCh37	11	94040391	94040391	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	146	0	ENST00000440961.2:c.388G>A	p.Glu130Lys	p.E130K	ENST00000440961	NM_001199206.1	130	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	388	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10517:SF10,hmmpanther:PTHR10517,Pfam_domain:PF03024	.	.	ENSP00000416935	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000440961	Transcript	.	.	ENSG00000183560	32565	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	FOLR4_HUMAN	FOLR4	HGNC	.	.	UPI00003E58FA	SNV	FOLR4,missense_variant,p.Glu131Lys,ENST00000328458,;FOLR4,missense_variant,p.Glu130Lys,ENST00000440961,;	432	146	95	SUCCESS
LHX5	64211	.	GRCh37	12	113901064	113901064	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	20	0	ENST00000261731.3:c.1140C>A	p.Ser380Arg	p.S380R	ENST00000261731	NM_022363.2	380	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS9171.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCGCTCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24208:SF83,hmmpanther:PTHR24208	.	.	ENSP00000261731	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261731	Transcript	.	.	ENSG00000089116	14216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	tolerated(0.24)	.	LHX5_HUMAN	LHX5	HGNC	.	.	UPI000012E662	SNV	LHX5,missense_variant,p.Ser380Arg,ENST00000261731,;	1714	20	29	SUCCESS
HNF1A	6927	.	GRCh37	12	121432040	121432040	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs771108132	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	93	0	ENST00000257555.6:c.787C>G	p.Arg263Gly	p.R263G	ENST00000257555		263	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9209.1	787	MUTECT|MUSE	.	AGGTGCGTGTC	BUFFER|p.T260M|c.779C>T|3	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000257555	.	4/10	.	.	.	.	.	.	.	.	rs771108132,CM971458,COSM24692	4/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,0,1	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Arg263Gly,ENST00000541395,;HNF1A,missense_variant,p.Arg263Gly,ENST00000400024,;HNF1A,missense_variant,p.Arg263Gly,ENST00000402929,;HNF1A,missense_variant,p.Arg146Gly,ENST00000543427,;HNF1A,missense_variant,p.Arg263Gly,ENST00000544413,;HNF1A,missense_variant,p.Arg263Gly,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Cys200Trp,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000541924,;HNF1A,upstream_gene_variant,,ENST00000543255,;	1013	93	55	SUCCESS
GOLGA3	2802	.	GRCh37	12	133384623	133384623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	111	0	ENST00000204726.3:c.1032G>T	p.Met344Ile	p.M344I	ENST00000204726	NM_005895.3	344	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9281.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCATATA	NONE	.	.	hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902	.	.	ENSP00000204726	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000204726	Transcript	.	.	ENSG00000090615	4426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.07)	.	GOGA3_HUMAN	GOLGA3	HGNC	.	.	UPI0000190979	SNV	GOLGA3,missense_variant,p.Met344Ile,ENST00000204726,;GOLGA3,missense_variant,p.Met344Ile,ENST00000537452,;GOLGA3,missense_variant,p.Met344Ile,ENST00000450791,;GOLGA3,missense_variant,p.Met344Ile,ENST00000456883,;GOLGA3,missense_variant,p.Met344Ile,ENST00000545875,;	1591	111	90	SUCCESS
WBP11	51729	.	GRCh37	12	14953690	14953690	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	117	0	ENST00000261167.2:c.92A>G	p.Lys31Arg	p.K31R	ENST00000261167	NM_016312.2	31	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS8666.1	92	MUTECT|MUSE	.	CCTTCTTTAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361,Pfam_domain:PF09429	.	.	ENSP00000261167	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000261167	Transcript	.	.	ENSG00000084463	16461	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.01)	.	WBP11_HUMAN	WBP11	HGNC	F5GXS9_HUMAN,B4DMD3_HUMAN	.	UPI0000035FC2	SNV	WBP11,missense_variant,p.Lys31Arg,ENST00000261167,;WBP11,missense_variant,p.Lys31Arg,ENST00000535328,;SMCO3,downstream_gene_variant,,ENST00000316048,;C12orf60,upstream_gene_variant,,ENST00000330828,;C12orf60,upstream_gene_variant,,ENST00000527783,;C12orf60,upstream_gene_variant,,ENST00000533472,;WBP11,missense_variant,p.Lys31Arg,ENST00000535638,;WBP11,non_coding_transcript_exon_variant,,ENST00000544764,;WBP11,downstream_gene_variant,,ENST00000543316,;	326	117	66	SUCCESS
GALNT6	11226	.	GRCh37	12	51759243	51759243	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376952286	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	97	0	ENST00000356317.3:c.785C>G	p.Ala262Gly	p.A262G	ENST00000356317	NM_007210.3	262	gCg/gGg	0	A:0.0002	.	.	.	.	C	A/G	protein_coding	YES	CCDS8813.1	785	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGCCTGT	NONE	.	.	hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	A:0	ENSP00000444171	.	4/11	.	.	.	.	.	.	.	.	rs376952286	4/11	PASS	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	tolerated(1)	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,missense_variant,p.Ala262Gly,ENST00000543196,;GALNT6,missense_variant,p.Ala262Gly,ENST00000356317,;GALNT6,missense_variant,p.Ala262Gly,ENST00000603641,;	991	97	78	SUCCESS
MIPEP	4285	.	GRCh37	13	24384001	24384001	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	47	0	ENST00000382172.3:c.1716T>C	p.Asp572=	p.D572=	ENST00000382172	NM_005932.3	572	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS9303.1	1716	MUTECT|MUSE|VARSCANS	.	TGCATATCAGC	NONE	.	.	hmmpanther:PTHR11804:SF5,hmmpanther:PTHR11804,Gene3D:2o36A02,Pfam_domain:PF01432,Superfamily_domains:SSF55486	.	.	ENSP00000371607	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000382172	Transcript	.	.	ENSG00000027001	7104	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIPEP_HUMAN	MIPEP	HGNC	.	.	UPI000013C54A	SNV	MIPEP,synonymous_variant,p.%3D,ENST00000382172,;	1815	47	53	SUCCESS
DIAPH3	81624	.	GRCh37	13	60413570	60413570	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372502709	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	54	0	ENST00000400324.4:c.2750C>T	p.Thr917Met	p.T917M	ENST00000400324	NM_001042517.1	917	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS41898.1	2750	MUTECT|MUSE	.	CCAGCGTTTCT	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	A:0.0002	ENSP00000383178	.	23/28	.	.	.	.	.	.	.	.	rs372502709,COSM1203584	23/28	PASS	ENST00000400324	Transcript	.	.	ENSG00000139734	15480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.025)	.	tolerated(0.27)	0,1	DIAP3_HUMAN	DIAPH3	HGNC	.	.	UPI0000DAC774	SNV	DIAPH3,missense_variant,p.Thr917Met,ENST00000400330,;DIAPH3,missense_variant,p.Thr917Met,ENST00000400324,;DIAPH3,missense_variant,p.Thr917Met,ENST00000267215,;DIAPH3,missense_variant,p.Thr906Met,ENST00000377908,;DIAPH3,missense_variant,p.Thr871Met,ENST00000400320,;DIAPH3,missense_variant,p.Thr847Met,ENST00000400319,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;	2971	54	13	SUCCESS
PCDH9	5101	.	GRCh37	13	67205348	67205348	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	53	0	ENST00000377865.2:c.3334A>G	p.Asn1112Asp	p.N1112D	ENST00000377865		1112	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS9444.1	3334	MUTECT|MUSE	.	AGAGTTGGGAT	NONE	.	.	hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027	.	.	ENSP00000442186	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.155)	.	tolerated(0.54)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Asn1078Asp,ENST00000328454,;PCDH9,missense_variant,p.Asn1112Asp,ENST00000544246,;PCDH9,missense_variant,p.Asn1112Asp,ENST00000377865,;PCDH9,missense_variant,p.Asn1078Asp,ENST00000456367,;RNU7-87P,upstream_gene_variant,,ENST00000459343,;	4026	53	16	SUCCESS
PCDH9	5101	.	GRCh37	13	67799512	67799512	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	6	79	0	ENST00000377865.2:c.3036+25A>G		p.*1012*	ENST00000377865				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9444.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATAGACC	NONE	.	.	.	.	.	ENSP00000442186	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Ile1021Val,ENST00000377861,;PCDH9,intron_variant,,ENST00000328454,;PCDH9,intron_variant,,ENST00000544246,;PCDH9,intron_variant,,ENST00000377865,;PCDH9,intron_variant,,ENST00000456367,;	.	79	46	SUCCESS
UCHL3	7347	.	GRCh37	13	76140947	76140947	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	93	0	ENST00000377595.3:c.300G>A	p.Leu100=	p.L100=	ENST00000377595	NM_006002.4	100	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9453.1	300	RADIA|MUSE|VARSCANS	.	GGACTGATTCA	NONE	.	.	hmmpanther:PTHR10589:SF24,hmmpanther:PTHR10589,PROSITE_patterns:PS00140,Pfam_domain:PF01088,Gene3D:3.40.532.10,Superfamily_domains:SSF54001,Prints_domain:PR00707	.	.	ENSP00000366819	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000377595	Transcript	.	.	ENSG00000118939	12515	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UCHL3_HUMAN	UCHL3	HGNC	.	.	UPI000004D00E	SNV	UCHL3,synonymous_variant,p.%3D,ENST00000377595,;UCHL3,synonymous_variant,p.%3D,ENST00000419068,;UCHL3,non_coding_transcript_exon_variant,,ENST00000471792,;RP11-29G8.3,non_coding_transcript_exon_variant,,ENST00000563635,;UCHL3,upstream_gene_variant,,ENST00000606347,;RP11-29G8.3,upstream_gene_variant,,ENST00000570285,;	330	93	49	SUCCESS
KIF26A	26153	.	GRCh37	14	104642658	104642658	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	72	0	ENST00000423312.2:c.3533G>T	p.Gly1178Val	p.G1178V	ENST00000423312	NM_015656.1	1178	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS45171.1	3533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGGGAAG	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.28)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Gly1039Val,ENST00000315264,;KIF26A,missense_variant,p.Gly1178Val,ENST00000423312,;	3533	72	99	SUCCESS
BRF1	2972	.	GRCh37	14	105693005	105693005	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	78	0	ENST00000546474.1:c.881A>G	p.Tyr294Cys	p.Y294C	ENST00000546474	NM_001519.3	294	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10001.1	881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTACGAG	NONE	.	.	hmmpanther:PTHR11618:SF4,hmmpanther:PTHR11618	.	.	ENSP00000448323	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000546474	Transcript	.	.	ENSG00000185024	11551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0)	.	TF3B_HUMAN	BRF1	HGNC	F8VXJ4_HUMAN,F8VWY1_HUMAN,F8VWT8_HUMAN,F8VQ19_HUMAN,B3KWA2_HUMAN	.	UPI0000136C55	SNV	BRF1,missense_variant,p.Tyr267Cys,ENST00000379937,;BRF1,missense_variant,p.Tyr90Cys,ENST00000549655,;BRF1,missense_variant,p.Tyr90Cys,ENST00000552127,;BRF1,missense_variant,p.Tyr148Cys,ENST00000546417,;BRF1,missense_variant,p.Tyr90Cys,ENST00000392557,;BRF1,missense_variant,p.Tyr56Cys,ENST00000446501,;BRF1,missense_variant,p.Tyr90Cys,ENST00000551787,;BRF1,missense_variant,p.Tyr90Cys,ENST00000379932,;BRF1,missense_variant,p.Tyr294Cys,ENST00000546474,;BRF1,missense_variant,p.Tyr179Cys,ENST00000327359,;BRF1,missense_variant,p.Tyr179Cys,ENST00000440513,;BRF1,missense_variant,p.Tyr14Cys,ENST00000547562,;BRF1,downstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000547530,;BRF1,upstream_gene_variant,,ENST00000547374,;BRF1,upstream_gene_variant,,ENST00000547052,;	15841	78	92	SUCCESS
TMEM260	54916	.	GRCh37	14	57083958	57083958	+	synonymous_variant	Silent	SNP	A	A	G	rs769725447	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	10	76	0	ENST00000261556.6:c.999A>G	p.Ser333=	p.S333=	ENST00000261556	NM_017799.3	333	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9727.2	999	RADIA|MUTECT|MUSE|VARSCANS	.	TATTCATTGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16214	.	.	ENSP00000261556	.	9/16	.	.	.	.	.	.	.	.	rs769725447	9/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,synonymous_variant,p.%3D,ENST00000261556,;TMEM260,synonymous_variant,p.%3D,ENST00000538838,;TMEM260,5_prime_UTR_variant,,ENST00000536419,;TMEM260,non_coding_transcript_exon_variant,,ENST00000553335,;TMEM260,synonymous_variant,p.%3D,ENST00000556422,;TMEM260,3_prime_UTR_variant,,ENST00000555497,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556648,;TMEM260,intron_variant,,ENST00000555905,;TMEM260,intron_variant,,ENST00000556929,;TMEM260,intron_variant,,ENST00000539559,;TMEM260,downstream_gene_variant,,ENST00000557626,;TMEM260,downstream_gene_variant,,ENST00000557657,;	1121	76	82	SUCCESS
C14orf166B	0	.	GRCh37	14	77311222	77311222	+	synonymous_variant	Silent	SNP	G	G	A	rs374431496	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	60	0	ENST00000393774.3:c.705G>A	p.Gly235=	p.G235=	ENST00000393774	NM_194287.2	235	ggG/ggA	0	A:0	.	.	.	.	A	G	protein_coding	YES	CCDS9853.2	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGGAGCA	NONE	byCluster	.	hmmpanther:PTHR24114:SF0,hmmpanther:PTHR24114,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	A:0.0001	ENSP00000377369	.	7/14	.	.	.	.	.	.	.	.	rs374431496	7/14	PASS	ENST00000393774	Transcript	.	.	ENSG00000100565	23346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN16B_HUMAN	C14orf166B	HGNC	.	.	UPI000155D520	SNV	C14orf166B,synonymous_variant,p.%3D,ENST00000393774,;C14orf166B,3_prime_UTR_variant,,ENST00000450042,;C14orf166B,downstream_gene_variant,,ENST00000460005,;C14orf166B,3_prime_UTR_variant,,ENST00000216450,;C14orf166B,3_prime_UTR_variant,,ENST00000484640,;	829	60	44	SUCCESS
NRXN3	9369	.	GRCh37	14	79269978	79269978	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	25	117	0	ENST00000554719.1:c.941G>A	p.Ser314Asn	p.S314N	ENST00000554719	NM_004796.5	314	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS9870.1	941	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGCTATG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.04)	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Ser314Asn,ENST00000554719,;NRXN3,missense_variant,p.Ser314Asn,ENST00000335750,;NRXN3,missense_variant,p.Ser685Asn,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	1432	117	96	SUCCESS
KCNK10	54207	.	GRCh37	14	88792848	88792848	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	43	0	ENST00000340700.5:c.-49G>A		p.*17*	ENST00000340700	NM_021161.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9881.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGCAACTT	NONE	.	3255	.	.	.	ENSP00000312811	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319231	Transcript	.	.	ENSG00000100433	6273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKA_HUMAN	KCNK10	HGNC	.	.	UPI000002A697	SNV	KCNK10,5_prime_UTR_variant,,ENST00000340700,;KCNK10,upstream_gene_variant,,ENST00000556282,;KCNK10,upstream_gene_variant,,ENST00000319231,;	.	43	55	SUCCESS
HERC2P2	400322	.	GRCh37	15	23326035	23326035	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	39	0	ENST00000560464.1:n.2152G>C		p.*718*	ENST00000560464				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	GCATCCACCAA	NONE	.	.	.	.	.	.	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000560464	Transcript	.	.	ENSG00000140181	4870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P2	HGNC	.	.	.	SNV	HERC2P2,non_coding_transcript_exon_variant,,ENST00000560464,;HERC2P2,non_coding_transcript_exon_variant,,ENST00000422607,;HERC2P2,non_coding_transcript_exon_variant,,ENST00000559650,;HERC2P2,non_coding_transcript_exon_variant,,ENST00000454333,;	2152	39	44	SUCCESS
UBE3A	7337	.	GRCh37	15	25616256	25616256	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	119	0	ENST00000397954.2:c.1074T>C	p.Ser358=	p.S358=	ENST00000397954		358	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS45192.1	1074	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCGACTGTT	BUFFER|p.R359Q|c.1076G>A|3	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,PIRSF_domain:PIRSF037201	.	.	ENSP00000381045	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000397954	Transcript	1	.	ENSG00000114062	12496	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBE3A_HUMAN	UBE3A	HGNC	Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN	.	UPI0000161F3B	SNV	UBE3A,synonymous_variant,p.%3D,ENST00000566215,;UBE3A,synonymous_variant,p.%3D,ENST00000397954,;UBE3A,synonymous_variant,p.%3D,ENST00000438097,;UBE3A,synonymous_variant,p.%3D,ENST00000428984,;UBE3A,synonymous_variant,p.%3D,ENST00000232165,;SNHG14,intron_variant,,ENST00000554726,;	1074	119	116	SUCCESS
DUOX2	50506	.	GRCh37	15	45393403	45393403	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs778216481	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	117	0	ENST00000603300.1:c.2921G>A	p.Arg974His	p.R974H	ENST00000603300	NM_014080.4	974	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS10117.1	2921	MUTECT|MUSE	.	CTCACCGCTCC	NONE	byFrequency	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53	.	.	ENSP00000475084	.	22/34	.	.	.	.	.	.	.	.	rs778216481	22/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.24)	.	tolerated(0.06)	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.Arg974His,ENST00000389039,;DUOX2,missense_variant,p.Arg974His,ENST00000603300,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558416,;DUOX2,upstream_gene_variant,,ENST00000560797,;	3124	117	91	SUCCESS
SLC12A1	6557	.	GRCh37	15	48500027	48500027	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	110	0	ENST00000380993.3:c.111T>A	p.Asp37Glu	p.D37E	ENST00000380993	NM_000338.2	37	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS53940.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATGACAA	NONE	.	.	.	.	.	ENSP00000379822	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.55)	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,missense_variant,p.Asp37Glu,ENST00000330289,;SLC12A1,missense_variant,p.Asp37Glu,ENST00000380993,;SLC12A1,missense_variant,p.Asp37Glu,ENST00000396577,;SLC12A1,missense_variant,p.Asp37Glu,ENST00000558405,;SLC12A1,missense_variant,p.Asp37Glu,ENST00000561031,;SLC12A1,intron_variant,,ENST00000559641,;CTXN2,downstream_gene_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000561127,;	326	110	74	SUCCESS
SHC4	399694	.	GRCh37	15	49135766	49135766	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	52	166	0	ENST00000332408.4:c.1323G>A	p.Gly441=	p.G441=	ENST00000332408	NM_203349.3	441	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10130.1	1323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCCCTCT	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12	.	.	ENSP00000329668	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,synonymous_variant,p.%3D,ENST00000332408,;SHC4,synonymous_variant,p.%3D,ENST00000537958,;SHC4,synonymous_variant,p.%3D,ENST00000396535,;SHC4,missense_variant,p.Gly135Glu,ENST00000557797,;	1752	166	169	SUCCESS
UNC13C	440279	.	GRCh37	15	54306041	54306041	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	73	0	ENST00000260323.11:c.941A>G	p.His314Arg	p.H314R	ENST00000260323	NM_001080534.1	314	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45264.1	941	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCATATGG	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.147)	.	tolerated_low_confidence(0.16)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.His314Arg,ENST00000537900,;UNC13C,missense_variant,p.His314Arg,ENST00000545554,;UNC13C,missense_variant,p.His314Arg,ENST00000260323,;	941	73	46	SUCCESS
UBE2Q2	92912	.	GRCh37	15	76165791	76165791	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1465051873	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	17	155	0	ENST00000267938.4:c.470A>G	p.Tyr157Cys	p.Y157C	ENST00000267938	NM_173469.2	157	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10286.1	470	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTATGAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF35	.	.	ENSP00000267938	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000267938	Transcript	.	.	ENSG00000140367	19248	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	deleterious(0.04)	.	UB2Q2_HUMAN	UBE2Q2	HGNC	B4DFQ2_HUMAN	.	UPI0000073AF9	SNV	UBE2Q2,missense_variant,p.Tyr141Cys,ENST00000561851,;UBE2Q2,missense_variant,p.Tyr122Cys,ENST00000569423,;UBE2Q2,missense_variant,p.Tyr43Cys,ENST00000426727,;UBE2Q2,missense_variant,p.Tyr157Cys,ENST00000267938,;UBE2Q2,missense_variant,p.Tyr157Cys,ENST00000338677,;UBE2Q2,upstream_gene_variant,,ENST00000563966,;UBE2Q2,missense_variant,p.Tyr28Cys,ENST00000567921,;UBE2Q2,intron_variant,,ENST00000561723,;	852	155	113	SUCCESS
ACAN	176	.	GRCh37	15	89417182	89417182	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	98	0	ENST00000439576.2:c.7443C>A	p.Val2481=	p.V2481=	ENST00000439576	NM_013227.3	2481	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS53970.1	7443	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTCCAGCG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000387356	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,synonymous_variant,p.%3D,ENST00000439576,;ACAN,synonymous_variant,p.%3D,ENST00000559004,;ACAN,synonymous_variant,p.%3D,ENST00000558704,;ACAN,synonymous_variant,p.%3D,ENST00000561243,;ACAN,intron_variant,,ENST00000352105,;ACAN,downstream_gene_variant,,ENST00000560601,;HAPLN3,downstream_gene_variant,,ENST00000359595,;HAPLN3,downstream_gene_variant,,ENST00000562889,;ACAN,non_coding_transcript_exon_variant,,ENST00000558604,;HAPLN3,downstream_gene_variant,,ENST00000558770,;	7817	98	83	SUCCESS
KIF22	3835	.	GRCh37	16	29811026	29811026	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	19	203	0	ENST00000160827.4:c.1068C>T	p.Val356=	p.V356=	ENST00000160827	NM_001256269.1	356	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10653.1	1068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCTCCGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF171,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000160827	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000160827	Transcript	.	.	ENSG00000079616	6391	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF22_HUMAN	KIF22	HGNC	Q14985_HUMAN,H3BTH5_HUMAN,H3BQB9_HUMAN	.	UPI00000012C0	SNV	KIF22,synonymous_variant,p.%3D,ENST00000561482,;KIF22,synonymous_variant,p.%3D,ENST00000400751,;KIF22,synonymous_variant,p.%3D,ENST00000569382,;KIF22,synonymous_variant,p.%3D,ENST00000160827,;KIF22,5_prime_UTR_variant,,ENST00000400750,;KIF22,downstream_gene_variant,,ENST00000569636,;KIF22,non_coding_transcript_exon_variant,,ENST00000563263,;KIF22,non_coding_transcript_exon_variant,,ENST00000563666,;KIF22,upstream_gene_variant,,ENST00000565736,;KIF22,downstream_gene_variant,,ENST00000570173,;KIF22,upstream_gene_variant,,ENST00000568312,;	1108	204	111	SUCCESS
CDH11	1009	.	GRCh37	16	65038624	65038624	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1339416150	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	96	0	ENST00000268603.4:c.149G>A	p.Arg50His	p.R50H	ENST00000268603	NM_001797.2	50	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS10803.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCGCTGT	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027	.	.	ENSP00000268603	.	3/13	.	.	.	.	.	.	.	.	COSM703945,COSM1646761	3/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.765)	.	deleterious(0)	1,1	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Arg50His,ENST00000567934,;CDH11,missense_variant,p.Arg50His,ENST00000394156,;CDH11,missense_variant,p.Arg50His,ENST00000562998,;CDH11,missense_variant,p.Arg50His,ENST00000268603,;CDH11,missense_variant,p.Arg50His,ENST00000564317,;CDH11,missense_variant,p.Arg50His,ENST00000562712,;CDH11,intron_variant,,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000562882,;CDH11,downstream_gene_variant,,ENST00000562325,;CDH11,non_coding_transcript_exon_variant,,ENST00000569624,;CDH11,downstream_gene_variant,,ENST00000568340,;CDH11,downstream_gene_variant,,ENST00000565210,;	765	96	83	SUCCESS
CDH11	1009	.	GRCh37	16	65038770	65038770	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	27	164	0	ENST00000268603.4:c.3G>T	p.Met1?	p.M1?	ENST00000268603	NM_001797.2	1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10803.1	3	RADIA|MUTECT|MUSE	.	TCCTTCATTTT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000268603	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.026)	.	tolerated_low_confidence(0.21)	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,start_lost,p.Met1?,ENST00000562882,;CDH11,start_lost,p.Met1?,ENST00000567934,;CDH11,start_lost,p.Met1?,ENST00000562325,;CDH11,start_lost,p.Met1?,ENST00000394156,;CDH11,start_lost,p.Met1?,ENST00000562998,;CDH11,start_lost,p.Met1?,ENST00000268603,;CDH11,start_lost,p.Met1?,ENST00000564317,;CDH11,start_lost,p.Met1?,ENST00000562712,;CDH11,intron_variant,,ENST00000566827,;CDH11,non_coding_transcript_exon_variant,,ENST00000568340,;CDH11,non_coding_transcript_exon_variant,,ENST00000569624,;CDH11,downstream_gene_variant,,ENST00000565210,;	619	164	122	SUCCESS
CDH11	1009	.	GRCh37	16	65038778	65038778	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	155	0	ENST00000268603.4:c.-6C>A		p.*2*	ENST00000268603	NM_001797.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10803.1	.	RADIA|MUTECT|MUSE	.	TTTTGGTTACG	NONE	.	.	.	.	.	ENSP00000268603	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,5_prime_UTR_variant,,ENST00000562882,;CDH11,5_prime_UTR_variant,,ENST00000567934,;CDH11,5_prime_UTR_variant,,ENST00000562325,;CDH11,5_prime_UTR_variant,,ENST00000394156,;CDH11,5_prime_UTR_variant,,ENST00000562998,;CDH11,5_prime_UTR_variant,,ENST00000268603,;CDH11,5_prime_UTR_variant,,ENST00000564317,;CDH11,5_prime_UTR_variant,,ENST00000562712,;CDH11,intron_variant,,ENST00000566827,;CDH11,non_coding_transcript_exon_variant,,ENST00000568340,;CDH11,non_coding_transcript_exon_variant,,ENST00000569624,;CDH11,downstream_gene_variant,,ENST00000565210,;	611	155	116	SUCCESS
WWP2	11060	.	GRCh37	16	69959360	69959360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764790347	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	115	0	ENST00000359154.2:c.1207C>T	p.Pro403Ser	p.P403S	ENST00000359154	NM_001270454.1	403	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10885.1	1207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCCCCTG	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF287,Gene3D:2.20.70.10,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF51045	.	.	ENSP00000352069	.	11/24	.	.	.	.	.	.	.	.	rs764790347	11/24	PASS	ENST00000359154	Transcript	.	.	ENSG00000198373	16804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.541)	.	deleterious(0.04)	.	WWP2_HUMAN	WWP2	HGNC	H3BRX8_HUMAN,H3BPJ8_HUMAN,B4DHF6_HUMAN	.	UPI000006CD16	SNV	WWP2,missense_variant,p.Pro403Ser,ENST00000356003,;WWP2,missense_variant,p.Pro403Ser,ENST00000448661,;WWP2,missense_variant,p.Pro287Ser,ENST00000542271,;WWP2,missense_variant,p.Pro403Ser,ENST00000359154,;WWP2,5_prime_UTR_variant,,ENST00000568684,;WWP2,non_coding_transcript_exon_variant,,ENST00000567579,;WWP2,non_coding_transcript_exon_variant,,ENST00000544162,;WWP2,non_coding_transcript_exon_variant,,ENST00000568185,;WWP2,non_coding_transcript_exon_variant,,ENST00000569297,;WWP2,non_coding_transcript_exon_variant,,ENST00000566463,;WWP2,upstream_gene_variant,,ENST00000568818,;	1308	115	141	SUCCESS
GLG1	2734	.	GRCh37	16	74496078	74496078	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	49	0	ENST00000422840.2:c.2950T>C	p.Cys984Arg	p.C984R	ENST00000422840	NM_001145667.1	984	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS32485.1	2950	RADIA|MUSE|VARSCANS	.	TTCACAGTCTG	NONE	.	.	PROSITE_profiles:PS51289,hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF1,Pfam_domain:PF00839	.	.	ENSP00000205061	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000205061	Transcript	.	.	ENSG00000090863	4316	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GSLG1_HUMAN	GLG1	HGNC	Q6ZMF1_HUMAN,H3BQT1_HUMAN	.	UPI00001FFBD9	SNV	GLG1,missense_variant,p.Cys984Arg,ENST00000422840,;GLG1,missense_variant,p.Cys984Arg,ENST00000205061,;GLG1,missense_variant,p.Cys973Arg,ENST00000447066,;Y_RNA,downstream_gene_variant,,ENST00000384794,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561481,;GLG1,non_coding_transcript_exon_variant,,ENST00000563646,;GLG1,upstream_gene_variant,,ENST00000561942,;	2970	49	37	SUCCESS
FOXL1	2300	.	GRCh37	16	86612389	86612389	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	9	98	0	ENST00000320241.3:c.60G>C	p.Leu20=	p.L20=	ENST00000320241	NM_005250.2	20	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10959.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGTACGG	NONE	.	.	hmmpanther:PTHR11829:SF52,hmmpanther:PTHR11829	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	COSM4063402	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,synonymous_variant,p.%3D,ENST00000593625,;FOXL1,synonymous_variant,p.%3D,ENST00000320241,;	275	98	80	SUCCESS
MYH2	4620	.	GRCh37	17	10432947	10432947	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	132	272	0	ENST00000245503.5:c.3051G>A	p.Gln1017=	p.Q1017=	ENST00000245503	NM_017534.5	1017	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS11156.1	3051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCCTGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF90257,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	.	.	ENSP00000245503	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,synonymous_variant,p.%3D,ENST00000245503,;MYH2,synonymous_variant,p.%3D,ENST00000397183,;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3436	272	273	SUCCESS
NSRP1	84081	.	GRCh37	17	28511699	28511699	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	240	12	128	0	ENST00000247026.5:c.684A>G	p.Pro228=	p.P228=	ENST00000247026	NM_032141.3	228	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11255.1	684	MUTECT|MUSE	.	ATACCACAAGA	NONE	.	.	hmmpanther:PTHR31938	.	.	ENSP00000247026	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000247026	Transcript	.	.	ENSG00000126653	25305	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NSRP1_HUMAN	NSRP1	HGNC	K7ERM9_HUMAN,K7EMD8_HUMAN,K7EK40_HUMAN	.	UPI000006E653	SNV	NSRP1,synonymous_variant,p.%3D,ENST00000247026,;NSRP1,downstream_gene_variant,,ENST00000580103,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,downstream_gene_variant,,ENST00000577289,;NSRP1,3_prime_UTR_variant,,ENST00000475652,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;	747	128	252	SUCCESS
OR3A3	8392	.	GRCh37	17	3324438	3324438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	10	253	0	ENST00000291231.1:c.577C>T	p.Leu193Phe	p.L193F	ENST00000291231	NM_012373.2	193	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS11025.1	577	MUTECT|MUSE	.	CACAGCTCTTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF231,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000291231	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000291231	Transcript	.	.	ENSG00000159961	8284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	OR3A3_HUMAN	OR3A3	HGNC	.	.	UPI000013E033	SNV	OR3A3,missense_variant,p.Leu193Phe,ENST00000291231,;	577	253	255	SUCCESS
GPATCH8	23131	.	GRCh37	17	42475028	42475028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	22	190	0	ENST00000591680.1:c.4417G>T	p.Ala1473Ser	p.A1473S	ENST00000591680	NM_001002909.2	1473	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32666.1	4417	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11	.	.	ENSP00000467556	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000591680	Transcript	.	.	ENSG00000186566	29066	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.02)	.	GPTC8_HUMAN	GPATCH8	HGNC	.	.	UPI0000237985	SNV	GPATCH8,missense_variant,p.Ala1473Ser,ENST00000591680,;GPATCH8,missense_variant,p.Ala1395Ser,ENST00000434000,;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,downstream_gene_variant,,ENST00000590041,;	4448	191	114	SUCCESS
OSBPL7	114881	.	GRCh37	17	45885990	45885990	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	30	265	0	ENST00000007414.3:c.2334C>T	p.Ala778=	p.A778=	ENST00000007414	NM_145798.2	778	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11515.1	2334	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGCCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972	.	.	ENSP00000007414	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,synonymous_variant,p.%3D,ENST00000392507,;OSBPL7,synonymous_variant,p.%3D,ENST00000007414,;OSBPL7,3_prime_UTR_variant,,ENST00000578461,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;	2526	265	205	SUCCESS
SLC25A11	8402	.	GRCh37	17	4841826	4841826	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	38	0	ENST00000225665.7:c.527G>A	p.Gly176Asp	p.G176D	ENST00000225665	NM_001165417.1	176	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11059.1	527	MUTECT|MUSE	.	GGACACCCTCT	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF86,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000225665	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000225665	Transcript	.	.	ENSG00000108528	10981	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	M2OM_HUMAN	SLC25A11	HGNC	Q6IBH0_HUMAN	.	UPI00000738E8	SNV	SLC25A11,missense_variant,p.Gly165Asp,ENST00000576951,;SLC25A11,missense_variant,p.Gly176Asp,ENST00000225665,;SLC25A11,missense_variant,p.Gly125Asp,ENST00000544061,;RNF167,upstream_gene_variant,,ENST00000575111,;RNF167,upstream_gene_variant,,ENST00000576965,;RNF167,upstream_gene_variant,,ENST00000576452,;RNF167,upstream_gene_variant,,ENST00000571816,;RNF167,upstream_gene_variant,,ENST00000570328,;RNF167,upstream_gene_variant,,ENST00000576229,;RNF167,upstream_gene_variant,,ENST00000572382,;RNF167,upstream_gene_variant,,ENST00000573404,;RNF167,upstream_gene_variant,,ENST00000572430,;GP1BA,downstream_gene_variant,,ENST00000329125,;RNF167,upstream_gene_variant,,ENST00000262482,;RNF167,upstream_gene_variant,,ENST00000571365,;RNF167,upstream_gene_variant,,ENST00000570492,;SLC25A11,non_coding_transcript_exon_variant,,ENST00000570543,;SLC25A11,non_coding_transcript_exon_variant,,ENST00000574710,;RNF167,upstream_gene_variant,,ENST00000572554,;RNF167,upstream_gene_variant,,ENST00000575400,;RNF167,upstream_gene_variant,,ENST00000575524,;	868	38	44	SUCCESS
SLC16A6	9120	.	GRCh37	17	66267772	66267772	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs139961659	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	84	0	ENST00000327268.4:c.529A>G	p.Ile177Val	p.I177V	ENST00000327268	NM_001174166.1	177	Att/Gtt	0	C:0.0002	.	.	.	.	C	I/V	protein_coding	YES	CCDS11675.1	529	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATGCGCT	NONE	byCluster	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360:SF20,hmmpanther:PTHR11360,PROSITE_profiles:PS50850	.	C:0	ENSP00000319991	.	6/7	.	.	.	.	.	.	.	.	rs139961659	6/7	PASS	ENST00000327268	Transcript	.	.	ENSG00000108932	10927	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.19)	.	MOT7_HUMAN	SLC16A6	HGNC	J3KS02_HUMAN,A1L174_HUMAN	.	UPI00001AA3B9	SNV	SLC16A6,missense_variant,p.Ile129Val,ENST00000583477,;SLC16A6,missense_variant,p.Ile177Val,ENST00000580666,;SLC16A6,missense_variant,p.Ile177Val,ENST00000327268,;ARSG,intron_variant,,ENST00000448504,;SLC16A6,downstream_gene_variant,,ENST00000582867,;ARSG,intron_variant,,ENST00000578726,;	694	84	84	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	96	190	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	190	180	SUCCESS
TMC6	11322	.	GRCh37	17	76113656	76113656	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759685270	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	82	0	ENST00000322914.3:c.2091G>T	p.Trp697Cys	p.W697C	ENST00000322914	NM_007267.6	697	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS32748.1	2091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACCCACAC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	.	.	ENSP00000465261	.	17/20	.	.	.	.	.	.	.	.	rs759685270	17/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,missense_variant,p.Trp697Cys,ENST00000392467,;TMC6,missense_variant,p.Trp697Cys,ENST00000590602,;TMC6,missense_variant,p.Trp276Cys,ENST00000322933,;TMC6,missense_variant,p.Trp697Cys,ENST00000322914,;TMC6,missense_variant,p.Trp276Cys,ENST00000591436,;TMC6,intron_variant,,ENST00000306591,;TMC6,downstream_gene_variant,,ENST00000589553,;TMC6,intron_variant,,ENST00000592076,;TMC6,downstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000589933,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,downstream_gene_variant,,ENST00000591756,;TMC6,upstream_gene_variant,,ENST00000590494,;TMC6,downstream_gene_variant,,ENST00000588087,;TMC6,downstream_gene_variant,,ENST00000585849,;	2251	82	59	SUCCESS
CEP192	55125	.	GRCh37	18	13049219	13049219	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	10	71	0	ENST00000506447.1:c.2429A>T	p.Asp810Val	p.D810V	ENST00000506447	NM_032142.3	810	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS32792.2	2429	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGATTTAT	NONE	.	.	hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029	.	.	ENSP00000427550	.	16/45	.	.	.	.	.	.	.	.	.	16/45	PASS	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,missense_variant,p.Asp214Val,ENST00000325971,;CEP192,missense_variant,p.Asp551Val,ENST00000589596,;CEP192,missense_variant,p.Asp335Val,ENST00000430049,;CEP192,missense_variant,p.Asp810Val,ENST00000506447,;CEP192,missense_variant,p.Asp349Val,ENST00000511820,;CEP192,missense_variant,p.Asp410Val,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;	2509	71	79	SUCCESS
ABHD3	171586	.	GRCh37	18	19263896	19263896	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	38	171	0	ENST00000289119.2:c.540G>A	p.Ala180=	p.A180=	ENST00000289119	NM_138340.4	180	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32802.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCGCCAC	NONE	.	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF005211,Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10794:SF24,hmmpanther:PTHR10794	.	.	ENSP00000289119	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000289119	Transcript	.	.	ENSG00000158201	18718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHD3_HUMAN	ABHD3	HGNC	.	.	UPI0000163938	SNV	ABHD3,synonymous_variant,p.%3D,ENST00000289119,;ABHD3,synonymous_variant,p.%3D,ENST00000584464,;ABHD3,5_prime_UTR_variant,,ENST00000578270,;ABHD3,intron_variant,,ENST00000580981,;MIR320C1,downstream_gene_variant,,ENST00000408566,;RP11-13N13.6,downstream_gene_variant,,ENST00000578583,;ABHD3,intron_variant,,ENST00000579875,;ABHD3,3_prime_UTR_variant,,ENST00000577891,;ABHD3,non_coding_transcript_exon_variant,,ENST00000577928,;	680	171	183	SUCCESS
NDC80	10403	.	GRCh37	18	2610833	2610833	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1027813739	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	18	182	0	ENST00000261597.4:c.1764G>A	p.Met588Ile	p.M588I	ENST00000261597	NM_006101.2	588	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS11827.1	1764	RADIA|MUTECT|MUSE|VARSCANS	.	GAGATGGTTGC	NONE	.	.	hmmpanther:PTHR10643:SF2,hmmpanther:PTHR10643	.	.	ENSP00000261597	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000261597	Transcript	.	.	ENSG00000080986	16909	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.26)	.	NDC80_HUMAN	NDC80	HGNC	A8K031_HUMAN	.	UPI0000073C92	SNV	NDC80,missense_variant,p.Met588Ile,ENST00000261597,;NDC80,missense_variant,p.Met18Ile,ENST00000574096,;	1946	182	146	SUCCESS
KIAA1328	57536	.	GRCh37	18	34646878	34646878	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	29	148	0	ENST00000280020.5:c.602A>G	p.Gln201Arg	p.Q201R	ENST00000280020	NM_020776.1	201	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS45855.1	602	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAGTGTT	NONE	.	.	Pfam_domain:PF15369	.	.	ENSP00000280020	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000280020	Transcript	.	.	ENSG00000150477	29248	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.16)	.	K1328_HUMAN	KIAA1328	HGNC	.	.	UPI00001C1FF0	SNV	KIAA1328,missense_variant,p.Gln93Arg,ENST00000543923,;KIAA1328,missense_variant,p.Gln189Arg,ENST00000587139,;KIAA1328,missense_variant,p.Gln197Arg,ENST00000591619,;KIAA1328,missense_variant,p.Gln201Arg,ENST00000280020,;KIAA1328,5_prime_UTR_variant,,ENST00000435985,;KIAA1328,5_prime_UTR_variant,,ENST00000591911,;KIAA1328,5_prime_UTR_variant,,ENST00000586135,;KIAA1328,5_prime_UTR_variant,,ENST00000586501,;KIAA1328,upstream_gene_variant,,ENST00000599493,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;	624	148	128	SUCCESS
DCC	1630	.	GRCh37	18	51025767	51025767	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	158	0	ENST00000442544.2:c.3998C>T	p.Thr1333Ile	p.T1333I	ENST00000442544	NM_005215.3	1333	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS11952.1	3998	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACAGCTT	BUFFER|p.R1337*|c.4009C>T|7	.	.	hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF06583	.	.	ENSP00000389140	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.953)	.	deleterious(0.03)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Thr966Ile,ENST00000581580,;DCC,missense_variant,p.Thr1333Ile,ENST00000442544,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,non_coding_transcript_exon_variant,,ENST00000579702,;	4614	158	79	SUCCESS
LAMA1	284217	.	GRCh37	18	7023225	7023225	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	108	0	ENST00000389658.3:c.2639C>A	p.Ala880Asp	p.A880D	ENST00000389658	NM_005559.3	880	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS32787.1	2639	MUTECT|MUSE	.	AGTGGGCGCCA	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000374309	.	19/63	.	.	.	.	.	.	.	.	.	19/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.53)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Ala880Asp,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	2733	108	107	SUCCESS
GALR1	2587	.	GRCh37	18	74962595	74962595	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	41	0	ENST00000299727.3:c.91G>A	p.Val31Met	p.V31M	ENST00000299727	NM_001480.3	31	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS12012.1	91	MUTECT|MUSE	.	TCGGCGTGGAG	NONE	.	.	hmmpanther:PTHR24230:SF31,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01418	.	.	ENSP00000299727	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000299727	Transcript	.	.	ENSG00000166573	4132	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.109)	.	tolerated(0.08)	.	GALR1_HUMAN	GALR1	HGNC	.	.	UPI000013E5DE	SNV	GALR1,missense_variant,p.Val31Met,ENST00000299727,;GALR1,upstream_gene_variant,,ENST00000582943,;	91	41	36	SUCCESS
ZNF878	729747	.	GRCh37	19	12155914	12155914	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767645991	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	127	0	ENST00000547628.1:c.302C>T	p.Ser101Leu	p.S101L	ENST00000547628	NM_001080404.2	101	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS45984.2	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATGATTGT	NONE	.	.	hmmpanther:PTHR24379	.	.	ENSP00000447931	.	4/4	.	.	.	.	.	.	.	.	rs767645991	4/4	PASS	ENST00000547628	Transcript	.	.	ENSG00000257446	37246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.392)	.	tolerated(0.2)	.	ZN878_HUMAN	ZNF878	HGNC	.	.	UPI00001D8268	SNV	ZNF878,missense_variant,p.Ser101Leu,ENST00000547628,;ZNF878,missense_variant,p.Ser148Leu,ENST00000602107,;CTD-2006C1.2,intron_variant,,ENST00000591898,;CTD-2006C1.2,intron_variant,,ENST00000476474,;CTD-2006C1.2,intron_variant,,ENST00000591838,;CTD-2006C1.10,intron_variant,,ENST00000547473,;	440	127	115	SUCCESS
ZNF709	163051	.	GRCh37	19	12575313	12575313	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	49	0	ENST00000397732.3:c.1423C>T	p.Pro475Ser	p.P475S	ENST00000397732	NM_152601.3	475	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	.	1423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGGTTTCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000404127	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000428311	Transcript	.	.	ENSG00000196826	20629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0)	.	.	ZNF709	Uniprot_gn	.	.	UPI000006CF50	SNV	ZNF709,missense_variant,p.Pro475Ser,ENST00000428311,;ZNF709,missense_variant,p.Pro475Ser,ENST00000397732,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	1565	49	40	SUCCESS
ZNF14	7561	.	GRCh37	19	19822650	19822650	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	60	0	ENST00000344099.3:c.1440T>C	p.Cys480=	p.C480=	ENST00000344099	NM_021030.2	480	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS12409.1	1440	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTTCCACACTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF21,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000340514	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000344099	Transcript	.	.	ENSG00000105708	12924	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZNF14_HUMAN	ZNF14	HGNC	.	.	UPI00001E058E	SNV	ZNF14,synonymous_variant,p.%3D,ENST00000344099,;CTC-412M14.5,downstream_gene_variant,,ENST00000604034,;	1579	60	44	SUCCESS
ZNF675	171392	.	GRCh37	19	23836584	23836584	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200866824	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	24	0	ENST00000359788.4:c.1151C>T	p.Thr384Met	p.T384M	ENST00000359788	NM_138330.2	384	aCg/aTg	0	.	C:0	.	C:0.0014	.	A	T/M	protein_coding	YES	CCDS32981.1	1151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCGTAAGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	C:0	.	ENSP00000352836	C:0	4/4	.	.	.	.	.	.	.	.	rs200866824	4/4	PASS	ENST00000359788	Transcript	.	C:0.0002	ENSG00000197372	30768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	C:0	deleterious(0.03)	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,missense_variant,p.Thr384Met,ENST00000359788,;ZNF675,intron_variant,,ENST00000601935,;ZNF675,intron_variant,,ENST00000596211,;ZNF675,intron_variant,,ENST00000600313,;ZNF675,downstream_gene_variant,,ENST00000601010,;ZNF675,downstream_gene_variant,,ENST00000599535,;ZNF675,non_coding_transcript_exon_variant,,ENST00000600299,;ZNF675,downstream_gene_variant,,ENST00000597074,;	1320	24	33	SUCCESS
U2AF1L4	199746	.	GRCh37	19	36236067	36236067	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764993439	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	67	0	ENST00000412391.2:c.91G>A	p.Asp31Asn	p.D31N	ENST00000412391		31	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12473.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCCCCGT	NONE	byCluster	.	PROSITE_profiles:PS50103,hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF3,Pfam_domain:PF00642,SMART_domains:SM00361	.	.	ENSP00000292879	.	2/6	.	.	.	.	.	.	.	.	rs764993439	2/6	PASS	ENST00000292879	Transcript	.	.	ENSG00000161265	23020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	deleterious(0.02)	.	U2AF4_HUMAN	U2AF1L4	HGNC	.	.	UPI000013E0DB	SNV	U2AF1L4,missense_variant,p.Asp31Asn,ENST00000378975,;U2AF1L4,missense_variant,p.Asp31Asn,ENST00000292879,;U2AF1L4,missense_variant,p.Asp31Asn,ENST00000412391,;PSENEN,5_prime_UTR_variant,,ENST00000587708,;PSENEN,upstream_gene_variant,,ENST00000222266,;LIN37,upstream_gene_variant,,ENST00000301159,;IGFLR1,upstream_gene_variant,,ENST00000586140,;IGFLR1,upstream_gene_variant,,ENST00000246532,;IGFLR1,upstream_gene_variant,,ENST00000344990,;PSENEN,upstream_gene_variant,,ENST00000591949,;IGFLR1,upstream_gene_variant,,ENST00000591748,;LIN37,upstream_gene_variant,,ENST00000587751,;IGFLR1,upstream_gene_variant,,ENST00000588992,;IGFLR1,upstream_gene_variant,,ENST00000592889,;IGFLR1,upstream_gene_variant,,ENST00000592537,;IGFLR1,upstream_gene_variant,,ENST00000591277,;AC002398.11,downstream_gene_variant,,ENST00000591091,;AC002398.11,downstream_gene_variant,,ENST00000585365,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588100,;LIN37,upstream_gene_variant,,ENST00000591076,;IGFLR1,upstream_gene_variant,,ENST00000587101,;U2AF1L4,missense_variant,p.Asp5Asn,ENST00000600296,;U2AF1L4,missense_variant,p.Asp31Asn,ENST00000601236,;AD000671.6,missense_variant,p.Asp31Asn,ENST00000589807,;U2AF1L4,synonymous_variant,p.%3D,ENST00000587987,;U2AF1L4,synonymous_variant,p.%3D,ENST00000591057,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000585554,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000586476,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000592913,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000590650,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588980,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588892,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000585771,;U2AF1L4,intron_variant,,ENST00000587886,;AC002398.9,upstream_gene_variant,,ENST00000591613,;U2AF1L4,upstream_gene_variant,,ENST00000591084,;U2AF1L4,upstream_gene_variant,,ENST00000590135,;U2AF1L4,upstream_gene_variant,,ENST00000594792,;IGFLR1,upstream_gene_variant,,ENST00000588018,;LIN37,upstream_gene_variant,,ENST00000587108,;IGFLR1,upstream_gene_variant,,ENST00000589175,;U2AF1L4,upstream_gene_variant,,ENST00000589429,;U2AF1L4,upstream_gene_variant,,ENST00000591855,;IGFLR1,upstream_gene_variant,,ENST00000592693,;LIN37,upstream_gene_variant,,ENST00000595455,;LIN37,upstream_gene_variant,,ENST00000590706,;LIN37,upstream_gene_variant,,ENST00000592871,;	145	67	47	SUCCESS
ZNF585B	92285	.	GRCh37	19	37676268	37676268	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	60	294	0	ENST00000532828.2:c.2171G>C	p.Gly724Ala	p.G724A	ENST00000532828	NM_152279.3	724	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS12500.1	2171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCCACAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000433773	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000532828	Transcript	.	.	ENSG00000245680	30948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,missense_variant,p.Gly312Ala,ENST00000312908,;ZNF585B,missense_variant,p.Gly669Ala,ENST00000531805,;ZNF585B,missense_variant,p.Gly724Ala,ENST00000532828,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,downstream_gene_variant,,ENST00000591492,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	2423	295	270	SUCCESS
PSMC4	5704	.	GRCh37	19	40485836	40485836	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	30	170	0	ENST00000157812.2:c.786C>G	p.Ile262Met	p.I262M	ENST00000157812	NM_006503.3	262	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS12547.1	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATCTTCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23073:SF8,hmmpanther:PTHR23073,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000157812	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000157812	Transcript	.	.	ENSG00000013275	9551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.02)	.	PRS6B_HUMAN	PSMC4	HGNC	A8K2M0_HUMAN	.	UPI0000132373	SNV	PSMC4,missense_variant,p.Ile262Met,ENST00000157812,;PSMC4,missense_variant,p.Ile231Met,ENST00000455878,;ZNF546,upstream_gene_variant,,ENST00000597363,;PSMC4,non_coding_transcript_exon_variant,,ENST00000601194,;PSMC4,non_coding_transcript_exon_variant,,ENST00000593455,;PSMC4,non_coding_transcript_exon_variant,,ENST00000596386,;PSMC4,non_coding_transcript_exon_variant,,ENST00000601697,;	984	170	151	SUCCESS
C2CD4C	126567	.	GRCh37	19	407975	407975	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	103	0	ENST00000332235.6:c.387C>T	p.Asp129=	p.D129=	ENST00000332235	NM_001136263.1	129	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS45890.1	387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGTCGGC	NONE	.	.	hmmpanther:PTHR10024:SF116,hmmpanther:PTHR10024	.	.	ENSP00000328677	.	2/2	.	.	.	.	.	.	.	.	COSM3764740	2/2	PASS	ENST00000332235	Transcript	.	.	ENSG00000183186	29417	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	C2C4C_HUMAN	C2CD4C	HGNC	.	.	UPI00001C2016	SNV	C2CD4C,synonymous_variant,p.%3D,ENST00000332235,;	561	103	104	SUCCESS
LYPD3	27076	.	GRCh37	19	43969676	43969676	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	57	0	ENST00000244333.3:c.48A>T	p.Ala16=	p.A16=	ENST00000244333	NM_014400.2	16	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12620.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTGCAGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10624:SF6,hmmpanther:PTHR10624	.	.	ENSP00000244333	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000244333	Transcript	.	.	ENSG00000124466	24880	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYPD3_HUMAN	LYPD3	HGNC	B2RBR3_HUMAN	.	UPI000000D965	SNV	LYPD3,synonymous_variant,p.%3D,ENST00000244333,;LYPD3,non_coding_transcript_exon_variant,,ENST00000597741,;LYPD3,non_coding_transcript_exon_variant,,ENST00000595970,;LYPD3,upstream_gene_variant,,ENST00000594326,;	137	57	48	SUCCESS
SEMA6B	10501	.	GRCh37	19	4550257	4550257	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755696579	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	123	0	ENST00000586582.1:c.1149G>A	p.Met383Ile	p.M383I	ENST00000586582	NM_032108.3	383	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS12131.1	1149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCATCCC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000467290	.	12/17	.	.	.	.	.	.	.	.	rs755696579	12/17	PASS	ENST00000586582	Transcript	.	.	ENSG00000167680	10739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.26)	.	SEM6B_HUMAN	SEMA6B	HGNC	.	.	UPI000004BA6B	SNV	SEMA6B,missense_variant,p.Met383Ile,ENST00000586965,;SEMA6B,missense_variant,p.Met383Ile,ENST00000586582,;SEMA6B,missense_variant,p.Met383Ile,ENST00000301293,;RN7SL121P,downstream_gene_variant,,ENST00000584223,;SEMA6B,upstream_gene_variant,,ENST00000589889,;	1460	123	90	SUCCESS
KLC3	147700	.	GRCh37	19	45853937	45853937	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	33	168	0	ENST00000391946.2:c.1311G>A	p.Glu437=	p.E437=	ENST00000391946	NM_177417.2	437	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS12660.2	1311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGAGTCTAT	NONE	.	.	hmmpanther:PTHR19959:SF125,hmmpanther:PTHR19959	.	.	ENSP00000375810	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000391946	Transcript	.	.	ENSG00000104892	20717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC3_HUMAN	KLC3	HGNC	K7ELP9_HUMAN,K7EL76_HUMAN	.	UPI000007022B	SNV	KLC3,synonymous_variant,p.%3D,ENST00000470402,;KLC3,synonymous_variant,p.%3D,ENST00000391946,;KLC3,synonymous_variant,p.%3D,ENST00000585434,;ERCC2,3_prime_UTR_variant,,ENST00000391945,;ERCC2,downstream_gene_variant,,ENST00000391941,;ERCC2,downstream_gene_variant,,ENST00000391944,;KLC3,downstream_gene_variant,,ENST00000589373,;KLC3,downstream_gene_variant,,ENST00000589837,;KLC3,downstream_gene_variant,,ENST00000590063,;KLC3,downstream_gene_variant,,ENST00000494686,;ERCC2,downstream_gene_variant,,ENST00000588652,;ERCC2,downstream_gene_variant,,ENST00000587376,;ERCC2,downstream_gene_variant,,ENST00000391942,;	1413	168	147	SUCCESS
ERCC1	2067	.	GRCh37	19	45924624	45924624	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	67	0	ENST00000300853.3:c.133A>G	p.Ser45Gly	p.S45G	ENST00000300853	NM_001983.3	45	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS12663.1	133	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTCTGTG	NONE	.	.	hmmpanther:PTHR12749:SF0,hmmpanther:PTHR12749	.	.	ENSP00000013807	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000013807	Transcript	1	.	ENSG00000012061	3433	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.04)	.	ERCC1_HUMAN	ERCC1	HGNC	Q8WWH8_HUMAN,K7ER89_HUMAN,K7EP14_HUMAN,K7EK97_HUMAN	.	UPI000019C835	SNV	ERCC1,missense_variant,p.Ser45Gly,ENST00000300853,;ERCC1,missense_variant,p.Ser45Gly,ENST00000589214,;ERCC1,missense_variant,p.Ser45Gly,ENST00000013807,;ERCC1,missense_variant,p.Ser45Gly,ENST00000591636,;ERCC1,missense_variant,p.Ser45Gly,ENST00000592083,;ERCC1,missense_variant,p.Ser45Gly,ENST00000592023,;ERCC1,missense_variant,p.Ser45Gly,ENST00000340192,;ERCC1,missense_variant,p.Ser45Gly,ENST00000589165,;ERCC1,intron_variant,,ENST00000589381,;ERCC1,intron_variant,,ENST00000423698,;ERCC1,upstream_gene_variant,,ENST00000590701,;ERCC1,upstream_gene_variant,,ENST00000592444,;ERCC1,non_coding_transcript_exon_variant,,ENST00000588300,;ERCC1,non_coding_transcript_exon_variant,,ENST00000592905,;ERCC1,upstream_gene_variant,,ENST00000587888,;	325	67	66	SUCCESS
ZC3H4	23211	.	GRCh37	19	47569634	47569634	+	synonymous_variant	Silent	SNP	C	C	A	rs753360031	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	66	0	ENST00000253048.5:c.3891G>T	p.Thr1297=	p.T1297=	ENST00000253048	NM_015168.1	1297	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42582.1	3891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCGTGGG	NONE	.	.	hmmpanther:PTHR13119:SF23,hmmpanther:PTHR13119	.	.	ENSP00000253048	.	15/15	.	.	.	.	.	.	.	.	rs753360031	15/15	PASS	ENST00000253048	Transcript	.	.	ENSG00000130749	17808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3H4_HUMAN	ZC3H4	HGNC	.	.	UPI00001C2000	SNV	ZC3H4,synonymous_variant,p.%3D,ENST00000253048,;ZC3H4,synonymous_variant,p.%3D,ENST00000601973,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000594019,;	3929	66	53	SUCCESS
GLTSCR2	0	.	GRCh37	19	48257974	48257974	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	73	0	ENST00000246802.5:c.879A>G	p.Thr293=	p.T293=	ENST00000246802	NM_015710.4	293	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12705.1	879	MUTECT|MUSE|VARSCANS	.	TCCACATTCCA	NONE	.	.	hmmpanther:PTHR14211,Pfam_domain:PF07767,PIRSF_domain:PIRSF017302	.	.	ENSP00000246802	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000246802	Transcript	.	.	ENSG00000105373	4333	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GSCR2_HUMAN	GLTSCR2	HGNC	.	.	UPI0000054111	SNV	GLTSCR2,synonymous_variant,p.%3D,ENST00000595143,;GLTSCR2,synonymous_variant,p.%3D,ENST00000246802,;GLTSCR2,intron_variant,,ENST00000597985,;GLTSCR2,intron_variant,,ENST00000598959,;GLTSCR2,upstream_gene_variant,,ENST00000594182,;SNORD23,upstream_gene_variant,,ENST00000408876,;CTD-2571L23.6,downstream_gene_variant,,ENST00000602048,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000598681,;GLTSCR2,downstream_gene_variant,,ENST00000599582,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000600410,;GLTSCR2,downstream_gene_variant,,ENST00000594525,;GLTSCR2,downstream_gene_variant,,ENST00000600266,;GLTSCR2,upstream_gene_variant,,ENST00000598285,;	917	73	73	SUCCESS
KCNA7	3743	.	GRCh37	19	49574011	49574011	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745798209	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	75	0	ENST00000221444.1:c.680G>T	p.Arg227Leu	p.R227L	ENST00000221444	NM_031886.2	227	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS12755.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGTACC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000221444	.	2/2	.	.	.	.	.	.	.	.	rs745798209,COSM3835344	2/2	PASS	ENST00000221444	Transcript	.	.	ENSG00000104848	6226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	KCNA7_HUMAN	KCNA7	HGNC	.	.	UPI000004F638	SNV	KCNA7,missense_variant,p.Arg227Leu,ENST00000221444,;	1036	75	61	SUCCESS
FPR1	2357	.	GRCh37	19	52249985	52249985	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	32	191	0	ENST00000304748.4:c.263G>T	p.Gly88Val	p.G88V	ENST00000304748	NM_002029.3	88	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12839.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCCATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00526	.	.	ENSP00000471493	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000595042	Transcript	.	.	ENSG00000171051	3826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.07)	.	FPR1_HUMAN	FPR1	HGNC	M0R315_HUMAN,M0QZT0_HUMAN	.	UPI0000050484	SNV	FPR1,missense_variant,p.Gly88Val,ENST00000600815,;FPR1,missense_variant,p.Gly88Val,ENST00000304748,;FPR1,missense_variant,p.Gly88Val,ENST00000595042,;FPR1,downstream_gene_variant,,ENST00000594900,;	405	191	167	SUCCESS
DNAAF3	352909	.	GRCh37	19	55670500	55670500	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	148	0	ENST00000524407.2:c.1556A>G	p.Glu519Gly	p.E519G	ENST00000524407		519	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS58680.1	1757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTCTGAG	NONE	.	.	.	.	.	ENSP00000436975	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000527223	Transcript	1	.	ENSG00000167646	30492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.56)	.	deleterious_low_confidence(0)	.	DAAF3_HUMAN	DNAAF3	HGNC	H0YD30_HUMAN,H0YCU4_HUMAN	.	UPI000013E6F1	SNV	DNAAF3,missense_variant,p.Glu566Gly,ENST00000391720,;DNAAF3,missense_variant,p.Glu519Gly,ENST00000524407,;DNAAF3,missense_variant,p.Glu465Gly,ENST00000455045,;DNAAF3,missense_variant,p.Glu186Gly,ENST00000588076,;DNAAF3,missense_variant,p.Glu586Gly,ENST00000527223,;DNAAF3,downstream_gene_variant,,ENST00000534170,;TNNI3,upstream_gene_variant,,ENST00000586858,;TNNI3,upstream_gene_variant,,ENST00000588882,;DNAAF3,downstream_gene_variant,,ENST00000526003,;DNAAF3,downstream_gene_variant,,ENST00000532817,;TNNI3,upstream_gene_variant,,ENST00000344887,;CTD-2587H24.5,non_coding_transcript_exon_variant,,ENST00000591665,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000587789,;TNNI3,upstream_gene_variant,,ENST00000590463,;TNNI3,upstream_gene_variant,,ENST00000586669,;DNAAF3,downstream_gene_variant,,ENST00000527166,;DNAAF3,downstream_gene_variant,,ENST00000527292,;DNAAF3,3_prime_UTR_variant,,ENST00000528412,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000533527,;CTD-2587H24.4,intron_variant,,ENST00000587871,;DNAAF3,downstream_gene_variant,,ENST00000526959,;TNNI3,upstream_gene_variant,,ENST00000586446,;DNAAF3,downstream_gene_variant,,ENST00000534214,;TNNI3,upstream_gene_variant,,ENST00000587176,;TNNI3,upstream_gene_variant,,ENST00000585806,;TNNI3,upstream_gene_variant,,ENST00000589864,;	1759	148	119	SUCCESS
PTPRH	5794	.	GRCh37	19	55715293	55715293	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748917262	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	27	152	0	ENST00000376350.3:c.743A>G	p.Asp248Gly	p.D248G	ENST00000376350	NM_002842.3	248	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33110.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATCTCCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000365528	.	5/20	.	.	.	.	.	.	.	.	rs748917262	5/20	PASS	ENST00000376350	Transcript	.	.	ENSG00000080031	9672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,missense_variant,p.Asp248Gly,ENST00000376350,;PTPRH,intron_variant,,ENST00000263434,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,downstream_gene_variant,,ENST00000587662,;PTPRH,downstream_gene_variant,,ENST00000586310,;PTPRH,downstream_gene_variant,,ENST00000588370,;PTPRH,downstream_gene_variant,,ENST00000586852,;	766	152	138	SUCCESS
MUC16	94025	.	GRCh37	19	9011461	9011461	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	9	216	0	ENST00000397910.4:c.38772T>C	p.Asp12924=	p.D12924=	ENST00000397910	NM_024690.2	12924	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS54212.1	38772	MUTECT|MUSE	.	ATGGCATCCAT	NONE	.	.	Superfamily_domains:0047452,SMART_domains:SM00200,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	36/84	.	.	.	.	.	.	.	.	.	36/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,;	38976	216	131	SUCCESS
FNDC7	163479	.	GRCh37	1	109273448	109273448	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	99	0	ENST00000370017.3:c.1777C>T	p.Leu593Phe	p.L593F	ENST00000370017	NM_001144937.1	593	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44185.1	1777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCTCCTA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853	.	.	ENSP00000359034	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000370017	Transcript	.	.	ENSG00000143107	26668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.774)	.	deleterious(0.01)	.	FNDC7_HUMAN	FNDC7	HGNC	.	.	UPI000187497A	SNV	FNDC7,missense_variant,p.Leu369Phe,ENST00000445274,;FNDC7,missense_variant,p.Leu593Phe,ENST00000370017,;FNDC7,missense_variant,p.Leu594Phe,ENST00000271311,;RP11-293A10.3,downstream_gene_variant,,ENST00000437400,;	2054	99	95	SUCCESS
DCLRE1B	64858	.	GRCh37	1	114454510	114454510	+	synonymous_variant	Silent	SNP	A	A	G	rs748972641	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	109	0	ENST00000369563.3:c.1296A>G	p.Ser432=	p.S432=	ENST00000369563	NM_022836.3	432	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS866.1	1296	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAGTGCA	NONE	byFrequency	.	hmmpanther:PTHR23240:SF5,hmmpanther:PTHR23240	.	.	ENSP00000358576	.	4/4	.	.	.	.	.	.	.	.	rs748972641	4/4	PASS	ENST00000369563	Transcript	.	.	ENSG00000118655	17641	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCR1B_HUMAN	DCLRE1B	HGNC	.	.	UPI000006FBBC	SNV	DCLRE1B,synonymous_variant,p.%3D,ENST00000369563,;DCLRE1B,intron_variant,,ENST00000466480,;	1742	109	91	SUCCESS
HNRNPCL1	343069	.	GRCh37	1	12907411	12907411	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	12	280	0	ENST00000317869.6:c.732A>G	p.Ala244=	p.A244=	ENST00000317869	NM_001013631.1	244	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS30591.1	732	MUTECT|MUSE	.	TCTTCTGCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000365370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317869	Transcript	.	.	ENSG00000179172	29295	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HNRCL_HUMAN	HNRNPCL1	HGNC	.	.	UPI0000134525	SNV	HNRNPCL1,synonymous_variant,p.%3D,ENST00000317869,;	958	280	174	SUCCESS
CHRNB2	1141	.	GRCh37	1	154543762	154543762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	94	0	ENST00000368476.3:c.463T>C	p.Cys155Arg	p.C155R	ENST00000368476	NM_000748.2	155	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS1070.1	463	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCATGCAAG	NONE	.	.	hmmpanther:PTHR18945:SF80,hmmpanther:PTHR18945,PROSITE_patterns:PS00236,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000357461	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368476	Transcript	.	.	ENSG00000160716	1962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHB2_HUMAN	CHRNB2	HGNC	Q5SXY3_HUMAN	.	UPI000012526E	SNV	CHRNB2,missense_variant,p.Cys155Arg,ENST00000368476,;	727	94	81	SUCCESS
LRRC71	149499	.	GRCh37	1	156901780	156901780	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	14	176	0	ENST00000337428.7:c.1402A>G	p.Met468Val	p.M468V	ENST00000337428	NM_144702.2	468	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS44249.1	1402	MUTECT|MUSE|VARSCANS	.	TTTTCATGCCT	NONE	.	.	hmmpanther:PTHR24106	.	.	ENSP00000336661	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000337428	Transcript	.	.	ENSG00000160838	26556	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	tolerated(0.06)	.	LRC71_HUMAN	LRRC71	HGNC	.	.	UPI00000719B9	SNV	LRRC71,missense_variant,p.Met468Val,ENST00000337428,;ARHGEF11,downstream_gene_variant,,ENST00000361409,;ARHGEF11,downstream_gene_variant,,ENST00000315174,;ARHGEF11,downstream_gene_variant,,ENST00000368194,;MIR765,downstream_gene_variant,,ENST00000390226,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;ARHGEF11,downstream_gene_variant,,ENST00000487682,;LRRC71,upstream_gene_variant,,ENST00000472465,;ARHGEF11,downstream_gene_variant,,ENST00000492592,;	1556	176	158	SUCCESS
DDR2	4921	.	GRCh37	1	162688873	162688873	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	107	0	ENST00000367921.3:c.20T>C	p.Met7Thr	p.M7T	ENST00000367921	NM_006182.2	7	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS1241.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATGCTCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000356899	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000367922	Transcript	.	.	ENSG00000162733	2731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.67)	.	DDR2_HUMAN	DDR2	HGNC	Q5T245_HUMAN,Q5T244_HUMAN	.	UPI000013E1B4	SNV	DDR2,missense_variant,p.Met7Thr,ENST00000415555,;DDR2,missense_variant,p.Met7Thr,ENST00000446985,;DDR2,missense_variant,p.Met7Thr,ENST00000367921,;DDR2,missense_variant,p.Met7Thr,ENST00000367922,;	458	107	59	SUCCESS
MFSD4	0	.	GRCh37	1	205568282	205568282	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	224	64	335	0	ENST00000367147.4:c.1392T>C	p.Tyr464=	p.Y464=	ENST00000367147	NM_181644.4	464	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS1455.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTATAGTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23121:SF10,hmmpanther:PTHR23121,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000356115	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000367147	Transcript	.	.	ENSG00000174514	25433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFSD4_HUMAN	MFSD4	HGNC	.	.	UPI000019855C	SNV	MFSD4,stop_lost,p.Ter441GlnextTer45,ENST00000539267,;MFSD4,synonymous_variant,p.%3D,ENST00000536357,;MFSD4,synonymous_variant,p.%3D,ENST00000367147,;RNU6-418P,downstream_gene_variant,,ENST00000384035,;MFSD4,non_coding_transcript_exon_variant,,ENST00000465651,;MFSD4,non_coding_transcript_exon_variant,,ENST00000478555,;MFSD4,non_coding_transcript_exon_variant,,ENST00000489709,;MFSD4,non_coding_transcript_exon_variant,,ENST00000475956,;MFSD4,downstream_gene_variant,,ENST00000471425,;	1485	335	288	SUCCESS
ERO1LB	0	.	GRCh37	1	236399588	236399588	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	99	0	ENST00000354619.5:c.616A>T	p.Asn206Tyr	p.N206Y	ENST00000354619	NM_019891.3	206	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS31064.1	616	MUTECT|MUSE	.	ACAGTTCTCTT	NONE	.	.	Superfamily_domains:0043331,PIRSF_domain:PIRSF017205,Pfam_domain:PF04137,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF2	.	.	ENSP00000346635	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000354619	Transcript	.	.	ENSG00000086619	14355	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ERO1B_HUMAN	ERO1LB	HGNC	Q5TAE8_HUMAN,Q5T1H5_HUMAN	.	UPI00004700B5	SNV	ERO1LB,missense_variant,p.Asn206Tyr,ENST00000354619,;ERO1LB,3_prime_UTR_variant,,ENST00000327333,;ERO1LB,downstream_gene_variant,,ENST00000366589,;	818	99	76	SUCCESS
CEP170	9859	.	GRCh37	1	243291604	243291604	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	188	26	339	0	ENST00000366542.1:c.4414-2A>T		p.X1472_splice	ENST00000366542	NM_014812.2	1472		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44339.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGCAGG	NONE	.	.	.	.	.	ENSP00000355500	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366542	Transcript	.	.	ENSG00000143702	28920	.	.	HIGH	18/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE170_HUMAN	CEP170	HGNC	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN	.	UPI0000470238	SNV	CEP170,splice_acceptor_variant,,ENST00000336415,;CEP170,splice_acceptor_variant,,ENST00000366544,;CEP170,splice_acceptor_variant,,ENST00000366543,;CEP170,splice_acceptor_variant,,ENST00000481987,;CEP170,splice_acceptor_variant,,ENST00000490813,;CEP170,splice_acceptor_variant,,ENST00000366542,;CEP170,downstream_gene_variant,,ENST00000464936,;CEP170,downstream_gene_variant,,ENST00000413359,;CEP170,splice_acceptor_variant,,ENST00000468254,;CEP170,splice_acceptor_variant,,ENST00000476661,;CEP170,non_coding_transcript_exon_variant,,ENST00000469646,;CEP170,upstream_gene_variant,,ENST00000466495,;CEP170,splice_acceptor_variant,,ENST00000439296,;	.	339	215	SUCCESS
CEP170	9859	.	GRCh37	1	243328135	243328135	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1484422123	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	24	346	0	ENST00000366542.1:c.3127G>A	p.Asp1043Asn	p.D1043N	ENST00000366542	NM_014812.2	1043	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS44339.1	3127	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCAGATG	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,Pfam_domain:PF15308	.	.	ENSP00000355500	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000366542	Transcript	.	.	ENSG00000143702	28920	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CE170_HUMAN	CEP170	HGNC	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN	.	UPI0000470238	SNV	CEP170,missense_variant,p.Asp1007Asn,ENST00000336415,;CEP170,missense_variant,p.Asp945Asn,ENST00000366544,;CEP170,missense_variant,p.Asp945Asn,ENST00000366543,;CEP170,missense_variant,p.Asp1043Asn,ENST00000366542,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,intron_variant,,ENST00000422938,;RP11-261C10.4,intron_variant,,ENST00000437499,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000461671,;	3179	347	243	SUCCESS
ZNF496	84838	.	GRCh37	1	247464447	247464447	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	43	169	0	ENST00000294753.4:c.1138G>T	p.Glu380Ter	p.E380*	ENST00000294753	NM_032752.1	380	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1631.1	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCTGTGG	NONE	.	.	hmmpanther:PTHR10032:SF212,hmmpanther:PTHR10032	.	.	ENSP00000294753	.	9/9	.	.	.	.	.	.	.	.	COSM1501855	9/9	PASS	ENST00000294753	Transcript	.	.	ENSG00000162714	23713	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN496_HUMAN	ZNF496	HGNC	.	.	UPI000007025B	SNV	ZNF496,stop_gained,p.Glu416Ter,ENST00000366498,;ZNF496,stop_gained,p.Glu305Ter,ENST00000461277,;ZNF496,stop_gained,p.Glu380Ter,ENST00000294753,;ZNF496,non_coding_transcript_exon_variant,,ENST00000462139,;	1603	169	140	SUCCESS
TRIM58	25893	.	GRCh37	1	248039390	248039390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	10	187	0	ENST00000366481.3:c.1060G>A	p.Glu354Lys	p.E354K	ENST00000366481	NM_015431.3	354	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1636.1	1060	MUTECT|MUSE	.	TGGGAGAAGGA	CODON|p.G353E|c.1058G>A|3	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000355437	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000366481	Transcript	.	.	ENSG00000162722	24150	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	tolerated(0.07)	.	TRI58_HUMAN	TRIM58	HGNC	.	.	UPI000020590E	SNV	TRIM58,missense_variant,p.Glu354Lys,ENST00000366481,;OR2W3,intron_variant,,ENST00000537741,;	1108	187	176	SUCCESS
COL16A1	1307	.	GRCh37	1	32158742	32158742	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754136133	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	111	0	ENST00000373672.3:c.1022A>T	p.Glu341Val	p.E341V	ENST00000373672	NM_001856.3	341	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41297.1	1022	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCTCACCT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	13/71	.	.	.	.	.	.	.	.	rs754136133	13/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Glu341Val,ENST00000373672,;COL16A1,missense_variant,p.Glu60Val,ENST00000373667,;COL16A1,missense_variant,p.Glu341Val,ENST00000373668,;COL16A1,missense_variant,p.Glu341Val,ENST00000271069,;COL16A1,upstream_gene_variant,,ENST00000482478,;COL16A1,upstream_gene_variant,,ENST00000529928,;COL16A1,upstream_gene_variant,,ENST00000474000,;	1539	111	102	SUCCESS
MEGF6	1953	.	GRCh37	1	3425655	3425655	+	synonymous_variant	Silent	SNP	C	C	T	rs771007651	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	101	0	ENST00000356575.4:c.1512G>A	p.Thr504=	p.T504=	ENST00000356575	NM_001409.3	504	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41237.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCGTGTG	NONE	byFrequency	.	hmmpanther:PTHR24035:SF29,hmmpanther:PTHR24035	.	.	ENSP00000348982	.	12/37	.	.	.	.	.	.	.	.	rs771007651	12/37	PASS	ENST00000356575	Transcript	.	.	ENSG00000162591	3232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,synonymous_variant,p.%3D,ENST00000356575,;MEGF6,synonymous_variant,p.%3D,ENST00000294599,;MEGF6,synonymous_variant,p.%3D,ENST00000485002,;	1739	101	120	SUCCESS
CSMD2	114784	.	GRCh37	1	34498286	34498286	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	75	0	ENST00000241312.4:c.306A>C	p.Pro102=	p.P102=	ENST00000241312		102	ccA/ccC	0	.	.	.	.	.	G	P	nonsense_mediated_decay	YES	CCDS380.1	306	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTGGCAG	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	3/70	.	.	.	.	.	.	.	.	.	3/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	335	75	79	SUCCESS
EXO5	64789	.	GRCh37	1	40980542	40980542	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	67	0	ENST00000296380.4:c.326A>G	p.Glu109Gly	p.E109G	ENST00000296380	NM_022774.1	109	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS453.1	326	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGAGAAGG	NONE	.	.	hmmpanther:PTHR14464,Pfam_domain:PF09810	.	.	ENSP00000361788	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372703	Transcript	.	.	ENSG00000164002	26115	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	deleterious(0)	.	EXO5_HUMAN	EXO5	HGNC	.	.	UPI00000722CF	SNV	EXO5,missense_variant,p.Glu109Gly,ENST00000419161,;EXO5,missense_variant,p.Glu109Gly,ENST00000415550,;EXO5,missense_variant,p.Glu109Gly,ENST00000296380,;EXO5,missense_variant,p.Glu109Gly,ENST00000420209,;EXO5,missense_variant,p.Glu109Gly,ENST00000358527,;EXO5,missense_variant,p.Glu109Gly,ENST00000372703,;EXO5,missense_variant,p.Glu109Gly,ENST00000418186,;EXO5,missense_variant,p.Glu109Gly,ENST00000443729,;EXO5,downstream_gene_variant,,ENST00000432259,;RP11-656D10.5,non_coding_transcript_exon_variant,,ENST00000453437,;RP11-656D10.6,downstream_gene_variant,,ENST00000437060,;EXO5,downstream_gene_variant,,ENST00000471429,;	1400	67	53	SUCCESS
KCNQ4	9132	.	GRCh37	1	41304173	41304173	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777429489	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	26	284	1	ENST00000347132.5:c.2066C>T	p.Ser689Leu	p.S689L	ENST00000347132	NM_004700.3	689	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS456.1	2066	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTCGGTCA	NONE	.	.	.	.	.	ENSP00000262916	.	14/14	.	.	.	.	.	.	.	.	rs777429489	14/14	PASS	ENST00000347132	Transcript	.	.	ENSG00000117013	6298	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.275)	.	deleterious(0)	.	KCNQ4_HUMAN	KCNQ4	HGNC	.	.	UPI000013D35B	SNV	KCNQ4,missense_variant,p.Ser635Leu,ENST00000509682,;KCNQ4,missense_variant,p.Ser550Leu,ENST00000443478,;KCNQ4,missense_variant,p.Ser689Leu,ENST00000347132,;KCNQ4,non_coding_transcript_exon_variant,,ENST00000506017,;	2148	285	274	SUCCESS
CAMTA1	23261	.	GRCh37	1	6880251	6880251	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	62	0	ENST00000303635.7:c.56A>G	p.Gln19Arg	p.Q19R	ENST00000303635	NM_015215.2	19	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS30576.1	56	RADIA|VARSCANS	.	TTCCCAAAGTG	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	deleterious_low_confidence(0.04)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Gln19Arg,ENST00000557126,;CAMTA1,missense_variant,p.Gln19Arg,ENST00000303635,;CAMTA1,missense_variant,p.Gln19Arg,ENST00000439411,;CAMTA1,missense_variant,p.Gln19Arg,ENST00000473578,;CAMTA1,intron_variant,,ENST00000467404,;CAMTA1,intron_variant,,ENST00000476163,;CAMTA1,intron_variant,,ENST00000490738,;CAMTA1,missense_variant,p.Gln12Arg,ENST00000461311,;CAMTA1,synonymous_variant,p.%3D,ENST00000486138,;CAMTA1,upstream_gene_variant,,ENST00000482934,;	263	62	41	SUCCESS
CNN3	1266	.	GRCh37	1	95364951	95364951	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	114	0	ENST00000370206.4:c.624G>A	p.Met208Ile	p.M208I	ENST00000370206	NM_001839.3	208	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS30775.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCCATCTG	NONE	.	.	PROSITE_profiles:PS51122,hmmpanther:PTHR18959,PROSITE_patterns:PS01052,Pfam_domain:PF00402,Prints_domain:PR00889	.	.	ENSP00000359225	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000370206	Transcript	.	.	ENSG00000117519	2157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.53)	.	deleterious(0.02)	.	CNN3_HUMAN	CNN3	HGNC	Q9BWY6_HUMAN,E9PDU6_HUMAN,B4DFK6_HUMAN	.	UPI0000127B01	SNV	CNN3,missense_variant,p.Met162Ile,ENST00000394202,;CNN3,missense_variant,p.Met167Ile,ENST00000415017,;CNN3,missense_variant,p.Met167Ile,ENST00000545882,;CNN3,missense_variant,p.Met208Ile,ENST00000370206,;CNN3,missense_variant,p.Met208Ile,ENST00000538964,;SLC44A3,downstream_gene_variant,,ENST00000527077,;SLC44A3,downstream_gene_variant,,ENST00000532670,;SLC44A3,downstream_gene_variant,,ENST00000446120,;SLC44A3,downstream_gene_variant,,ENST00000271227,;SLC44A3,downstream_gene_variant,,ENST00000529450,;SLC44A3,downstream_gene_variant,,ENST00000532427,;SLC44A3,downstream_gene_variant,,ENST00000467909,;CNN3,non_coding_transcript_exon_variant,,ENST00000487539,;CNN3,non_coding_transcript_exon_variant,,ENST00000461018,;CNN3,downstream_gene_variant,,ENST00000474409,;SLC44A3,downstream_gene_variant,,ENST00000475883,;	1008	114	62	SUCCESS
PHF20	51230	.	GRCh37	20	34515736	34515736	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	47	111	0	ENST00000374012.3:c.2039G>T	p.Cys680Phe	p.C680F	ENST00000374012		680	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS13268.1	2039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTGCATGG	NONE	.	.	hmmpanther:PTHR15856:SF27,hmmpanther:PTHR15856,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000363124	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000374012	Transcript	.	.	ENSG00000025293	16098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PHF20_HUMAN	PHF20	HGNC	Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN	.	UPI000006E61B	SNV	PHF20,missense_variant,p.Cys680Phe,ENST00000374012,;PHF20,3_prime_UTR_variant,,ENST00000439301,;RNU6-937P,downstream_gene_variant,,ENST00000384325,;	2168	111	128	SUCCESS
STMN3	50861	.	GRCh37	20	62284771	62284771	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	19	0	ENST00000370053.1:c.-73G>A		p.*25*	ENST00000370053	NM_015894.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13529.1	.	MUTECT|MUSE	.	TGGTGCTGCAG	NONE	.	.	.	.	.	ENSP00000359070	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000370053	Transcript	.	.	ENSG00000197457	15926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STMN3_HUMAN	STMN3	HGNC	B7Z5G4_HUMAN	.	UPI000013611C	SNV	STMN3,5_prime_UTR_variant,,ENST00000370053,;RTEL1,upstream_gene_variant,,ENST00000370018,;STMN3,upstream_gene_variant,,ENST00000540534,;RTEL1,upstream_gene_variant,,ENST00000356810,;RTEL1,upstream_gene_variant,,ENST00000360203,;RTEL1,upstream_gene_variant,,ENST00000508582,;RTEL1,upstream_gene_variant,,ENST00000318100,;RTEL1,upstream_gene_variant,,ENST00000469728,;	10	19	52	SUCCESS
DSCR3	0	.	GRCh37	21	38597864	38597864	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	109	0	ENST00000309117.6:c.875T>A	p.Leu292Gln	p.L292Q	ENST00000309117	NM_006052.1	292	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33553.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGCGGG	NONE	.	.	hmmpanther:PTHR12233:SF2,hmmpanther:PTHR12233	.	.	ENSP00000311399	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000309117	Transcript	.	.	ENSG00000157538	3044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.819)	.	deleterious(0)	.	DSCR3_HUMAN	DSCR3	HGNC	.	.	UPI000012990B	SNV	DSCR3,missense_variant,p.Leu248Gln,ENST00000288304,;DSCR3,missense_variant,p.Leu215Gln,ENST00000539844,;DSCR3,missense_variant,p.Leu265Gln,ENST00000476950,;DSCR3,missense_variant,p.Leu244Gln,ENST00000398998,;DSCR3,missense_variant,p.Leu292Gln,ENST00000309117,;DSCR3,missense_variant,p.Leu167Gln,ENST00000399001,;AP001432.14,intron_variant,,ENST00000440629,;DSCR9,downstream_gene_variant,,ENST00000578829,;DSCR9,downstream_gene_variant,,ENST00000585273,;DSCR9,downstream_gene_variant,,ENST00000543267,;DSCR9,downstream_gene_variant,,ENST00000584840,;DSCR9,downstream_gene_variant,,ENST00000581640,;DSCR9,downstream_gene_variant,,ENST00000454482,;DSCR3,non_coding_transcript_exon_variant,,ENST00000488368,;DSCR3,non_coding_transcript_exon_variant,,ENST00000399000,;DSCR3,downstream_gene_variant,,ENST00000495858,;DSCR3,non_coding_transcript_exon_variant,,ENST00000497493,;	1113	109	95	SUCCESS
NIPSNAP1	8508	.	GRCh37	22	29956787	29956787	+	synonymous_variant	Silent	SNP	G	G	A	rs758418702	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	63	0	ENST00000216121.7:c.642C>T	p.Asn214=	p.N214=	ENST00000216121	NM_001202502.1	214	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS13860.1	642	MUTECT|MUSE	.	TCCTGGTTCTC	NONE	.	.	hmmpanther:PTHR21017:SF11,hmmpanther:PTHR21017,Pfam_domain:PF07978,Gene3D:3.30.70.900,Superfamily_domains:SSF54909	.	.	ENSP00000216121	.	8/10	.	.	.	.	.	.	.	.	rs758418702	8/10	PASS	ENST00000216121	Transcript	.	.	ENSG00000184117	7827	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NIPS1_HUMAN	NIPSNAP1	HGNC	C9JDV8_HUMAN	.	UPI00001303FF	SNV	NIPSNAP1,synonymous_variant,p.%3D,ENST00000216121,;NIPSNAP1,downstream_gene_variant,,ENST00000415100,;NIPSNAP1,downstream_gene_variant,,ENST00000437094,;NIPSNAP1,downstream_gene_variant,,ENST00000455496,;	897	63	68	SUCCESS
FOXRED2	80020	.	GRCh37	22	36892113	36892113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	14	146	0	ENST00000216187.6:c.1525G>T	p.Asp509Tyr	p.D509Y	ENST00000216187	NM_024955.5	509	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS13929.1	1525	RADIA|MUTECT|MUSE|VARSCANS	.	GACGTCCTTGT	NONE	.	.	hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF53	.	.	ENSP00000380401	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000397224	Transcript	.	.	ENSG00000100350	26264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FXRD2_HUMAN	FOXRED2	HGNC	B0QYA2_HUMAN,A8MUR8_HUMAN	.	UPI00000744FA	SNV	FOXRED2,missense_variant,p.Asp509Tyr,ENST00000397224,;FOXRED2,missense_variant,p.Asp509Tyr,ENST00000397223,;FOXRED2,missense_variant,p.Asp509Tyr,ENST00000216187,;FOXRED2,missense_variant,p.Asp61Tyr,ENST00000366463,;	1619	147	113	SUCCESS
SSTR3	6753	.	GRCh37	22	37602722	37602722	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	78	0	ENST00000328544.3:c.1121T>A	p.Val374Asp	p.V374D	ENST00000328544	NM_001051.3	374	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS13944.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGACCCGG	NONE	.	.	hmmpanther:PTHR24229:SF36,hmmpanther:PTHR24229	.	.	ENSP00000330138	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328544	Transcript	.	.	ENSG00000183473	11332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.265)	.	deleterious(0)	.	SSR3_HUMAN	SSTR3	HGNC	Q86YF2_HUMAN	.	UPI0000050435	SNV	SSTR3,missense_variant,p.Val374Asp,ENST00000328544,;SSTR3,missense_variant,p.Val374Asp,ENST00000402501,;	1655	78	49	SUCCESS
TEF	7008	.	GRCh37	22	41763523	41763523	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	65	0	ENST00000406644.3:c.-14C>T		p.*5*	ENST00000406644	NM_001145398.2			0	.	.	.	.	.	T	.	protein_coding	.	CCDS46716.1	.	MUTECT|MUSE	.	GTTCTCAGTGG	NONE	.	.	.	.	.	ENSP00000385256	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000406644	Transcript	.	.	ENSG00000167074	11722	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TEF_HUMAN	TEF	HGNC	.	.	UPI000006DE6E	SNV	TEF,5_prime_UTR_variant,,ENST00000406644,;	187	65	37	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125555776	125555776	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	50	220	0	ENST00000431078.1:c.3093A>T	p.Thr1031=	p.T1031=	ENST00000431078	NM_130773.3	1031	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46401.1	3093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACAGATTC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,synonymous_variant,p.%3D,ENST00000431078,;	3457	220	182	SUCCESS
IWS1	55677	.	GRCh37	2	128247424	128247424	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs757568675	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	35	303	0	ENST00000295321.4:c.2143C>T	p.Arg715Ter	p.R715*	ENST00000295321	NM_017969.2	715	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS2146.1	2143	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCGTTGAG	NONE	.	.	hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908	.	.	ENSP00000295321	.	11/14	.	.	.	.	.	.	.	.	rs757568675	11/14	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,stop_gained,p.Arg715Ter,ENST00000295321,;IWS1,downstream_gene_variant,,ENST00000455721,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,downstream_gene_variant,,ENST00000598065,;AC010976.2,downstream_gene_variant,,ENST00000595561,;AC010976.2,downstream_gene_variant,,ENST00000454503,;AC010976.2,downstream_gene_variant,,ENST00000596439,;IWS1,upstream_gene_variant,,ENST00000412979,;	2403	303	240	SUCCESS
XIRP2	129446	.	GRCh37	2	168099492	168099492	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs112137897	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	68	0	ENST00000409195.1:c.1590C>G	p.Asn530Lys	p.N530K	ENST00000409195	NM_152381.5	530	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS42769.1	1590	RADIA|MUTECT|VARSCANS	.	ATGAACTCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs112137897	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Asn308Lys,ENST00000409273,;XIRP2,missense_variant,p.Asn530Lys,ENST00000409195,;XIRP2,missense_variant,p.Asn530Lys,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	1679	68	37	SUCCESS
MYO3B	140469	.	GRCh37	2	171259467	171259467	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	109	0	ENST00000408978.4:c.2239C>G	p.Gln747Glu	p.Q747E	ENST00000408978	NM_138995.4	747	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS42773.1	2239	RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCAGTAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	19/35	.	.	.	.	.	.	.	.	.	19/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Gln756Glu,ENST00000484338,;MYO3B,missense_variant,p.Gln747Glu,ENST00000408978,;MYO3B,missense_variant,p.Gln756Glu,ENST00000334231,;MYO3B,missense_variant,p.Gln747Glu,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,missense_variant,p.Gln747Glu,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	2382	109	91	SUCCESS
MYO1B	4430	.	GRCh37	2	192160940	192160940	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	89	1	ENST00000304164.4:c.239T>G	p.Leu80Arg	p.L80R	ENST00000304164	NM_001161819.1	80	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS46477.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACTGAGCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000376132	.	3/31	.	.	.	.	.	.	.	.	.	3/31	PASS	ENST00000392318	Transcript	.	.	ENSG00000128641	7596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0)	.	MYO1B_HUMAN	MYO1B	HGNC	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN	.	UPI00001A9466	SNV	MYO1B,missense_variant,p.Leu80Arg,ENST00000392316,;MYO1B,missense_variant,p.Leu80Arg,ENST00000420448,;MYO1B,missense_variant,p.Leu80Arg,ENST00000438652,;MYO1B,missense_variant,p.Leu80Arg,ENST00000339514,;MYO1B,missense_variant,p.Leu80Arg,ENST00000418908,;MYO1B,missense_variant,p.Leu80Arg,ENST00000304164,;MYO1B,missense_variant,p.Leu80Arg,ENST00000451437,;MYO1B,missense_variant,p.Leu80Arg,ENST00000392318,;MYO1B,non_coding_transcript_exon_variant,,ENST00000471904,;	486	90	71	SUCCESS
UNC80	285175	.	GRCh37	2	210699734	210699734	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	57	0	ENST00000439458.1:c.3041A>T	p.His1014Leu	p.H1014L	ENST00000439458	NM_032504.1	1014	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS46504.1	3041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCAGTAAG	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	18/64	.	.	.	.	.	.	.	.	.	18/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.His1014Leu,ENST00000439458,;UNC80,missense_variant,p.His1009Leu,ENST00000272845,;UNC80,splice_region_variant,,ENST00000489023,;	3121	57	18	SUCCESS
UNC80	285175	.	GRCh37	2	210818977	210818977	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	82	0	ENST00000439458.1:c.7242T>A	p.Ser2414Arg	p.S2414R	ENST00000439458	NM_032504.1	2414	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS46504.1	7242	RADIA|MUTECT|MUSE	.	TACAGTGTAGA	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	47/64	.	.	.	.	.	.	.	.	.	47/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.876)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Ser2414Arg,ENST00000439458,;UNC80,missense_variant,p.Ser2409Arg,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000481494,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	7322	82	68	SUCCESS
POLQ	10721	.	GRCh37	3	121179064	121179064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	22	141	0	ENST00000264233.5:c.6985G>T	p.Ala2329Ser	p.A2329S	ENST00000264233	NM_199420.3	2329	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33833.1	6985	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCAGCCA	NONE	.	.	Gene3D:3.30.70.370,Pfam_domain:PF00476,SMART_domains:SM00482,Superfamily_domains:SSF56672	.	.	ENSP00000264233	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Ala2329Ser,ENST00000264233,;POLQ,intron_variant,,ENST00000474243,;	7114	141	140	SUCCESS
MGLL	11343	.	GRCh37	3	127413989	127413989	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	33	206	0	ENST00000398104.1:c.615G>A	p.Leu205=	p.L205=	ENST00000398104	NM_001003794.2	205	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46902.1	645	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCAGCCC	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,synonymous_variant,p.%3D,ENST00000265052,;MGLL,synonymous_variant,p.%3D,ENST00000453507,;MGLL,synonymous_variant,p.%3D,ENST00000398104,;MGLL,synonymous_variant,p.%3D,ENST00000496306,;MGLL,synonymous_variant,p.%3D,ENST00000484451,;MGLL,synonymous_variant,p.%3D,ENST00000398101,;MGLL,synonymous_variant,p.%3D,ENST00000434178,;MGLL,intron_variant,,ENST00000487473,;MGLL,non_coding_transcript_exon_variant,,ENST00000476682,;	1185	206	151	SUCCESS
NUP210	23225	.	GRCh37	3	13383318	13383318	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	51	194	0	ENST00000254508.5:c.3158A>T	p.Gln1053Leu	p.Q1053L	ENST00000254508	NM_024923.3	1053	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33704.1	3158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTGGCCG	NONE	.	.	hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	.	.	ENSP00000254508	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000254508	Transcript	.	.	ENSG00000132182	30052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	deleterious(0)	.	PO210_HUMAN	NUP210	HGNC	.	.	UPI00001600AF	SNV	NUP210,missense_variant,p.Gln1053Leu,ENST00000254508,;NUP210,upstream_gene_variant,,ENST00000485755,;	3241	194	179	SUCCESS
WDR49	151790	.	GRCh37	3	167277892	167277892	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	197	0	ENST00000308378.3:c.611A>T	p.Glu204Val	p.E204V	ENST00000308378	NM_178824.3	204	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3201.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCTCATTT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000311343	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	deleterious(0.01)	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,missense_variant,p.Glu97Val,ENST00000466760,;WDR49,missense_variant,p.Glu269Val,ENST00000472600,;WDR49,missense_variant,p.Glu257Val,ENST00000453925,;WDR49,missense_variant,p.Glu29Val,ENST00000476376,;WDR49,missense_variant,p.Glu204Val,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;WDR49,intron_variant,,ENST00000460448,;	917	197	136	SUCCESS
SCN5A	6331	.	GRCh37	3	38645542	38645542	+	synonymous_variant	Silent	SNP	C	C	T	rs759471090	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	93	0	ENST00000333535.4:c.1551G>A	p.Arg517=	p.R517=	ENST00000333535		517	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS46799.1	1551	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCCTGCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF11933,Prints_domain:PR01666	.	.	ENSP00000410257	.	12/28	.	.	.	.	.	.	.	.	rs759471090	12/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,synonymous_variant,p.%3D,ENST00000449557,;SCN5A,synonymous_variant,p.%3D,ENST00000413689,;SCN5A,synonymous_variant,p.%3D,ENST00000423572,;SCN5A,synonymous_variant,p.%3D,ENST00000425664,;SCN5A,synonymous_variant,p.%3D,ENST00000414099,;SCN5A,synonymous_variant,p.%3D,ENST00000451551,;SCN5A,synonymous_variant,p.%3D,ENST00000450102,;SCN5A,synonymous_variant,p.%3D,ENST00000333535,;SCN5A,synonymous_variant,p.%3D,ENST00000455624,;SCN5A,synonymous_variant,p.%3D,ENST00000443581,;	1745	93	93	SUCCESS
SCN11A	11280	.	GRCh37	3	38991632	38991632	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	23	153	0	ENST00000302328.3:c.222A>T	p.Ile74=	p.I74=	ENST00000302328	NM_014139.2	74	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33737.1	222	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTATGAG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22	.	.	ENSP00000307599	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,synonymous_variant,p.%3D,ENST00000450244,;SCN11A,synonymous_variant,p.%3D,ENST00000302328,;SCN11A,synonymous_variant,p.%3D,ENST00000444237,;SCN11A,synonymous_variant,p.%3D,ENST00000456224,;	421	153	135	SUCCESS
SLC6A20	54716	.	GRCh37	3	45823619	45823619	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	134	1	ENST00000358525.4:c.218G>A	p.Ser73Asn	p.S73N	ENST00000358525	NM_020208.3	73	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS43077.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCTGCCC	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF44,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000346298	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000358525	Transcript	.	.	ENSG00000163817	30927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	S6A20_HUMAN	SLC6A20	HGNC	.	.	UPI0000046064	SNV	SLC6A20,missense_variant,p.Ser73Asn,ENST00000353278,;SLC6A20,missense_variant,p.Ser73Asn,ENST00000456124,;SLC6A20,missense_variant,p.Ser73Asn,ENST00000358525,;SLC6A20,intron_variant,,ENST00000413781,;	334	135	86	SUCCESS
DNAH12	201625	.	GRCh37	3	57431862	57431862	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	39	191	0	ENST00000351747.2:c.4006T>G	p.Phe1336Val	p.F1336V	ENST00000351747	NM_178504.4	1336	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	.	.	4006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAACACAA	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000295937	.	27/59	.	.	.	.	.	.	.	.	.	27/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious(0.01)	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,missense_variant,p.Phe1336Val,ENST00000351747,;DNAH12,missense_variant,p.Phe1359Val,ENST00000495027,;	4187	191	163	SUCCESS
LAMTOR3	8649	.	GRCh37	4	100808468	100808468	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	187	0	ENST00000499666.2:c.88G>T	p.Val30Leu	p.V30L	ENST00000499666	NM_001243736.1	30	Gta/Tta	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS3652.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTACTCCAT	NONE	.	.	hmmpanther:PTHR13378,Gene3D:3.30.450.30,Pfam_domain:PF08923,Superfamily_domains:SSF103196	.	.	ENSP00000424183	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000499666	Transcript	.	.	ENSG00000109270	15606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.01)	.	LTOR3_HUMAN	LAMTOR3	HGNC	.	.	UPI000012F194	SNV	LAMTOR3,missense_variant,p.Val30Leu,ENST00000499666,;LAMTOR3,missense_variant,p.Val30Leu,ENST00000226522,;LAMTOR3,non_coding_transcript_exon_variant,,ENST00000515100,;	281	188	123	SUCCESS
MMAA	166785	.	GRCh37	4	146575235	146575235	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	5	115	0	ENST00000281317.5:c.909A>G	p.Gln303=	p.Q303=	ENST00000281317	NM_172250.2	303	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS3766.1	909	MUTECT|MUSE	.	ATACAAGCGGA	NONE	.	.	hmmpanther:PTHR23408:SF3,hmmpanther:PTHR23408,Pfam_domain:PF03308,TIGRFAM_domain:TIGR00750,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000281317	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000281317	Transcript	1	.	ENSG00000151611	18871	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMAA_HUMAN	MMAA	HGNC	Q495G6_HUMAN	.	UPI000005032D	SNV	MMAA,synonymous_variant,p.%3D,ENST00000281317,;MMAA,synonymous_variant,p.%3D,ENST00000541599,;RP11-557J10.4,upstream_gene_variant,,ENST00000504555,;MMAA,3_prime_UTR_variant,,ENST00000511969,;MMAA,non_coding_transcript_exon_variant,,ENST00000503730,;	2119	115	102	SUCCESS
KDR	3791	.	GRCh37	4	55946222	55946222	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs777246485	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	48	188	0	ENST00000263923.4:c.3957C>A	p.Tyr1319Ter	p.Y1319*	ENST00000263923	NM_002253.2	1319	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS3497.1	3957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGTACAC	NONE	.	.	.	.	.	ENSP00000263923	.	30/30	.	.	.	.	.	.	.	.	rs777246485	30/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,stop_gained,p.Tyr1319Ter,ENST00000263923,;RP11-530I17.1,intron_variant,,ENST00000511222,;	4253	188	147	SUCCESS
UBA6	55236	.	GRCh37	4	68511719	68511722	+	frameshift_variant	Frame_Shift_Del	DEL	ATCA	ATCA	-	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	ATCA	ATCA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	29	0	ENST00000322244.5:c.1329_1332del	p.Tyr443Ter	p.Y443*	ENST00000322244	NM_018227.5	443	taTGAT/ta	0	.	.	.	.	.	-	YD/X	protein_coding	YES	CCDS3516.1	1329-1332	VARSCANI*|PINDEL	.	TAAGGCATCATATCT	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572	.	.	ENSP00000313454	.	16/33	.	.	.	.	.	.	.	.	.	16/33	PASS	ENST00000322244	Transcript	.	.	ENSG00000033178	25581	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBA6_HUMAN	UBA6	HGNC	B3KSS1_HUMAN	.	UPI000004A4F7	deletion	UBA6,frameshift_variant,p.Tyr443Ter,ENST00000322244,;UBA6,upstream_gene_variant,,ENST00000505673,;	1389-1392	29	28	SUCCESS
HNRNPD	3184	.	GRCh37	4	83278019	83278020	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	116	18	149	0	ENST00000313899.7:c.782_783insG	p.Gln262ThrfsTer11	p.Q262Tfs*11	ENST00000313899	NM_031370.2	261	gaa/gaGa	0	.	.	.	.	.	C	E/EX	protein_coding	YES	CCDS3592.1	782-783	INDELOCATOR*|VARSCANI*|PINDEL	.	TATTGTTCCTT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF263,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000313199	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000313899	Transcript	.	.	ENSG00000138668	5036	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HNRPD_HUMAN	HNRNPD	HGNC	F5H6R6_HUMAN,D6RF44_HUMAN,D6RAF8_HUMAN	.	UPI0000000C3F	insertion	HNRNPD,frameshift_variant,p.Gln166ThrfsTer11,ENST00000514671,;HNRNPD,frameshift_variant,p.Gln210ThrfsTer11,ENST00000543098,;HNRNPD,frameshift_variant,p.Gln195ThrfsTer11,ENST00000509263,;HNRNPD,frameshift_variant,p.Gln262ThrfsTer11,ENST00000313899,;HNRNPD,frameshift_variant,p.Gln108ThrfsTer11,ENST00000541060,;HNRNPD,frameshift_variant,p.Gln262ThrfsTer11,ENST00000353341,;HNRNPD,frameshift_variant,p.Gln243ThrfsTer11,ENST00000352301,;HNRNPD,downstream_gene_variant,,ENST00000515432,;HNRNPD,downstream_gene_variant,,ENST00000503822,;HNRNPD,downstream_gene_variant,,ENST00000509107,;HNRNPD,downstream_gene_variant,,ENST00000507010,;HNRNPD,non_coding_transcript_exon_variant,,ENST00000508119,;HNRNPD,3_prime_UTR_variant,,ENST00000513584,;HNRNPD,non_coding_transcript_exon_variant,,ENST00000514325,;	1060-1061	149	134	SUCCESS
EPB41L4A	64097	.	GRCh37	5	111600669	111600669	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370791654	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	69	0	ENST00000261486.5:c.478G>T	p.Val160Leu	p.V160L	ENST00000261486	NM_022140.3	160	Gta/Tta	0	G:0.0005	G:0.0008	.	G:0	.	A	V/L	protein_coding	YES	CCDS43350.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATACATATC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF11,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031	G:0	G:0	ENSP00000261486	G:0	6/23	.	.	.	.	.	.	.	.	rs370791654	6/23	PASS	ENST00000261486	Transcript	.	G:0.0002	ENSG00000129595	13278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	G:0	deleterious(0)	.	E41LA_HUMAN	EPB41L4A	HGNC	Q8NEH8_HUMAN	.	UPI000020C3F8	SNV	EPB41L4A,missense_variant,p.Val160Leu,ENST00000261486,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000512395,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000511405,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000305368,;	755	69	76	SUCCESS
YTHDC2	64848	.	GRCh37	5	112899131	112899131	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs559215760	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	88	0	ENST00000161863.4:c.2384T>C	p.Met795Thr	p.M795T	ENST00000161863	NM_022828.3	795	aTg/aCg	0	.	C:0	.	C:0	.	C	M/T	protein_coding	YES	CCDS4113.1	2384	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTATGAAAG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF86	C:0.002	.	ENSP00000161863	C:0	19/30	.	.	.	.	.	.	.	.	rs559215760	19/30	PASS	ENST00000161863	Transcript	.	C:0.0004	ENSG00000047188	24721	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	C:0	tolerated(0.3)	.	YTDC2_HUMAN	YTHDC2	HGNC	D6RA70_HUMAN	.	UPI0000367311	SNV	YTHDC2,missense_variant,p.Met795Thr,ENST00000161863,;YTHDC2,upstream_gene_variant,,ENST00000506333,;YTHDC2,downstream_gene_variant,,ENST00000503857,;	2597	88	102	SUCCESS
GRAMD3	0	.	GRCh37	5	125821443	125821443	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs936842199	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	47	0	ENST00000513040.1:c.1081A>G	p.Ile361Val	p.I361V	ENST00000513040	NM_001146319.1	361	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS54891.1	1081	RADIA|MUTECT|MUSE|VARSCANS	.	ACCATATTCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF5	.	.	ENSP00000426120	.	11/14	.	.	.	.	.	.	.	.	COSM3661346,COSM2153637	11/14	PASS	ENST00000513040	Transcript	.	.	ENSG00000155324	24911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.011)	.	tolerated(0.24)	1,1	GRAM3_HUMAN	GRAMD3	HGNC	Q9BYJ8_HUMAN,B7Z4W8_HUMAN	.	UPI0001914E8F	SNV	GRAMD3,missense_variant,p.Ile324Val,ENST00000515200,;GRAMD3,missense_variant,p.Ile237Val,ENST00000502348,;GRAMD3,missense_variant,p.Ile354Val,ENST00000542322,;GRAMD3,missense_variant,p.Ile324Val,ENST00000543198,;GRAMD3,missense_variant,p.Ile346Val,ENST00000285689,;GRAMD3,missense_variant,p.Ile361Val,ENST00000513040,;GRAMD3,missense_variant,p.Ile330Val,ENST00000511134,;GRAMD3,missense_variant,p.Ile242Val,ENST00000544396,;GRAMD3,downstream_gene_variant,,ENST00000506445,;RP11-517I3.1,intron_variant,,ENST00000512500,;RP11-517I3.1,intron_variant,,ENST00000515808,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000512579,;GRAMD3,3_prime_UTR_variant,,ENST00000514099,;GRAMD3,3_prime_UTR_variant,,ENST00000513978,;GRAMD3,downstream_gene_variant,,ENST00000504859,;GRAMD3,downstream_gene_variant,,ENST00000508523,;	1281	47	35	SUCCESS
HSPA4	3308	.	GRCh37	5	132400692	132400692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	27	161	0	ENST00000304858.2:c.128C>T	p.Pro43Leu	p.P43L	ENST00000304858	NM_002154.3	43	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4166.1	128	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCTAAGA	NONE	.	.	hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF136,Gene3D:3.30.30.30,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000302961	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000304858	Transcript	.	.	ENSG00000170606	5237	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.22)	.	HSP74_HUMAN	HSPA4	HGNC	Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN	.	UPI000013E9D5	SNV	HSPA4,missense_variant,p.Pro43Leu,ENST00000304858,;	417	161	183	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140798233	140798233	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	34	0	ENST00000398594.2:c.807G>A	p.Gln269=	p.Q269=	ENST00000398594	NM_018927.3	269	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS47293.1	807	RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGACGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,synonymous_variant,p.%3D,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	807	34	37	SUCCESS
ARHGAP26	23092	.	GRCh37	5	142435642	142435642	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	52	0	ENST00000274498.4:c.1423A>T	p.Lys475Ter	p.K475*	ENST00000274498	NM_015071.4	475	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4277.1	1423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCAAAGCA	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR12552:SF4,hmmpanther:PTHR12552,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000274498	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000274498	Transcript	1	.	ENSG00000145819	17073	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG26_HUMAN	ARHGAP26	HGNC	Q9HBW4_HUMAN,Q8NFJ1_HUMAN,C9J6V4_HUMAN	.	UPI0000130D6B	SNV	ARHGAP26,stop_gained,p.Lys475Ter,ENST00000274498,;ARHGAP26,stop_gained,p.Lys47Ter,ENST00000418236,;ARHGAP26,stop_gained,p.Lys94Ter,ENST00000443674,;ARHGAP26,stop_gained,p.Lys475Ter,ENST00000378004,;ARHGAP26,upstream_gene_variant,,ENST00000443045,;ARHGAP26,downstream_gene_variant,,ENST00000469131,;	1801	52	44	SUCCESS
MAPK9	5601	.	GRCh37	5	179674507	179674507	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	58	0	ENST00000452135.2:c.620A>C	p.Asp207Ala	p.D207A	ENST00000452135		207	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS4453.1	620	RADIA|MUTECT|MUSE|VARSCANS	.	AGATATCAACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF167,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01772	.	.	ENSP00000394560	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000452135	Transcript	.	.	ENSG00000050748	6886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MK09_HUMAN	MAPK9	HGNC	E5RJ57_HUMAN	.	UPI000006E3AD	SNV	MAPK9,missense_variant,p.Asp207Ala,ENST00000393360,;MAPK9,missense_variant,p.Asp207Ala,ENST00000425491,;MAPK9,missense_variant,p.Asp207Ala,ENST00000452135,;MAPK9,3_prime_UTR_variant,,ENST00000539014,;MAPK9,3_prime_UTR_variant,,ENST00000397072,;MAPK9,intron_variant,,ENST00000347470,;MAPK9,intron_variant,,ENST00000343111,;MAPK9,intron_variant,,ENST00000455781,;MAPK9,non_coding_transcript_exon_variant,,ENST00000524170,;MAPK9,3_prime_UTR_variant,,ENST00000393362,;MAPK9,upstream_gene_variant,,ENST00000520212,;	919	58	42	SUCCESS
PDCD6	10016	.	GRCh37	5	306821	306821	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	28	164	0	ENST00000264933.4:c.313G>C	p.Asp105His	p.D105H	ENST00000264933	NM_001267556.1	105	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS3854.1	313	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGGACAAC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10183,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000264933	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000264933	Transcript	.	.	ENSG00000249915	8765	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PDCD6_HUMAN	PDCD6	HGNC	Q86W51_HUMAN	.	UPI00001313D9	SNV	PDCD6,missense_variant,p.Asp105His,ENST00000507528,;PDCD6,missense_variant,p.Asp105His,ENST00000264933,;AHRR,intron_variant,,ENST00000505113,;PDCD6,intron_variant,,ENST00000505221,;PDCD6,intron_variant,,ENST00000507473,;AHRR,intron_variant,,ENST00000316418,;AHRR,intron_variant,,ENST00000512529,;PDCD6,non_coding_transcript_exon_variant,,ENST00000511482,;PDCD6,3_prime_UTR_variant,,ENST00000505526,;PDCD6,non_coding_transcript_exon_variant,,ENST00000513582,;PDCD6,intron_variant,,ENST00000506909,;PDCD6,upstream_gene_variant,,ENST00000512466,;	413	164	196	SUCCESS
EXOC3	11336	.	GRCh37	5	464493	464493	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1281960589	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	73	0	ENST00000512944.1:c.1742A>G	p.Asn581Ser	p.N581S	ENST00000512944	NM_007277.4	581	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS54830.1	1742	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAACGATT	NONE	.	.	hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292,Pfam_domain:PF06046	.	.	ENSP00000425587	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000512944	Transcript	.	.	ENSG00000180104	30378	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.23)	.	EXOC3_HUMAN	EXOC3	HGNC	Q69YP2_HUMAN,D6RBR9_HUMAN,B2RE06_HUMAN	.	UPI000004A021	SNV	EXOC3,missense_variant,p.Asn581Ser,ENST00000315013,;EXOC3,missense_variant,p.Asn581Ser,ENST00000512944,;CTD-2228K2.5,downstream_gene_variant,,ENST00000510714,;EXOC3,missense_variant,p.Asn451Ser,ENST00000503889,;EXOC3,3_prime_UTR_variant,,ENST00000515601,;EXOC3,non_coding_transcript_exon_variant,,ENST00000511015,;EXOC3,downstream_gene_variant,,ENST00000510028,;EXOC3,upstream_gene_variant,,ENST00000505947,;	1931	73	64	SUCCESS
MAP1B	4131	.	GRCh37	5	71491475	71491475	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	99	0	ENST00000296755.7:c.2293T>C	p.Ser765Pro	p.S765P	ENST00000296755	NM_005909.3	765	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS4012.1	2293	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGTCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Ser765Pro,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	2591	99	71	SUCCESS
MTFR2	113115	.	GRCh37	6	136562631	136562631	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs766477083	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	9	137	0	ENST00000420702.1:c.465G>C	p.Gln155His	p.Q155H	ENST00000420702	NM_001099286.1	155	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS5176.1	465	MUTECT|MUSE	.	GCAATCTGAGA	NONE	.	.	Pfam_domain:PF05308,hmmpanther:PTHR14215:SF2,hmmpanther:PTHR14215,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000395232	.	5/8	.	.	.	.	.	.	.	.	rs766477083	5/8	PASS	ENST00000420702	Transcript	.	.	ENSG00000146410	21115	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTFR2_HUMAN	MTFR2	HGNC	E9PN39_HUMAN	.	UPI000004FA2A	SNV	MTFR2,missense_variant,p.Gln155His,ENST00000451457,;MTFR2,missense_variant,p.Gln112His,ENST00000418509,;MTFR2,missense_variant,p.Gln155His,ENST00000420702,;MTFR2,upstream_gene_variant,,ENST00000532958,;MTFR2,3_prime_UTR_variant,,ENST00000367784,;	855	137	133	SUCCESS
GRM4	2914	.	GRCh37	6	34029743	34029743	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	47	198	0	ENST00000538487.2:c.799A>T	p.Lys267Ter	p.K267*	ENST00000538487	NM_000841.2	267	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4787.1	799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTTGTCGA	NONE	.	.	hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00593	.	.	ENSP00000440556	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,stop_gained,p.Lys98Ter,ENST00000544773,;GRM4,stop_gained,p.Lys267Ter,ENST00000374181,;GRM4,stop_gained,p.Lys134Ter,ENST00000609222,;GRM4,stop_gained,p.Lys127Ter,ENST00000455714,;GRM4,stop_gained,p.Lys134Ter,ENST00000535756,;GRM4,stop_gained,p.Lys198Ter,ENST00000374177,;GRM4,stop_gained,p.Lys267Ter,ENST00000538487,;GRM4,5_prime_UTR_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609973,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	1243	198	144	SUCCESS
LRWD1	222229	.	GRCh37	7	102113247	102113247	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757995965	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	5	100	0	ENST00000292616.5:c.1799C>T	p.Thr600Ile	p.T600I	ENST00000292616	NM_152892.1	600	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS34715.1	1799	MUTECT|MUSE	.	CCCCACACAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24370:SF10,hmmpanther:PTHR24370	.	.	ENSP00000292616	.	14/15	.	.	.	.	.	.	.	.	rs757995965	14/15	PASS	ENST00000292616	Transcript	.	.	ENSG00000161036	21769	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.046)	.	deleterious(0)	.	LRWD1_HUMAN	LRWD1	HGNC	.	.	UPI0000071D2E	SNV	LRWD1,missense_variant,p.Thr186Ile,ENST00000468175,;LRWD1,missense_variant,p.Thr600Ile,ENST00000292616,;POLR2J,downstream_gene_variant,,ENST00000393794,;POLR2J,downstream_gene_variant,,ENST00000292614,;MIR4467,downstream_gene_variant,,ENST00000578629,;LRWD1,non_coding_transcript_exon_variant,,ENST00000473880,;LRWD1,downstream_gene_variant,,ENST00000485808,;LRWD1,downstream_gene_variant,,ENST00000485417,;LRWD1,downstream_gene_variant,,ENST00000463739,;	1951	100	121	SUCCESS
CFTR	1080	.	GRCh37	7	117243675	117243675	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	10	216	0	ENST00000003084.6:c.2747T>A	p.Phe916Tyr	p.F916Y	ENST00000003084	NM_000492.3	916	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS5773.1	2747	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTTTTACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF19,hmmpanther:PTHR24223,Pfam_domain:PF00664,TIGRFAM_domain:TIGR01271,Gene3D:2hydA01,Superfamily_domains:SSF90123,Prints_domain:PR01851	.	.	ENSP00000003084	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	deleterious(0.01)	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,missense_variant,p.Phe886Tyr,ENST00000426809,;CFTR,missense_variant,p.Phe855Tyr,ENST00000454343,;CFTR,missense_variant,p.Phe916Tyr,ENST00000003084,;AC000111.6,downstream_gene_variant,,ENST00000456270,;	2879	216	104	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117432446	117432446	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs377098745	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	30	238	0	ENST00000160373.3:c.804A>C	p.Gln268His	p.Q268H	ENST00000160373	NM_033427.2	268	caA/caC	0	C:0.0002	.	.	.	.	G	Q/H	protein_coding	YES	CCDS5774.1	804	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGTTGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	C:0	ENSP00000160373	.	4/23	.	.	.	.	.	.	.	.	rs377098745	4/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Gln268His,ENST00000160373,;CTTNBP2,upstream_gene_variant,,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Gln268His,ENST00000441556,;	896	238	218	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117432538	117432538	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775961843	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	25	211	0	ENST00000160373.3:c.712C>T	p.Arg238Trp	p.R238W	ENST00000160373	NM_033427.2	238	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS5774.1	712	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGCTCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	4/23	.	.	.	.	.	.	.	.	rs775961843	4/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Arg238Trp,ENST00000160373,;CTTNBP2,upstream_gene_variant,,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Arg238Trp,ENST00000441556,;	804	211	208	SUCCESS
SLC13A4	26266	.	GRCh37	7	135377154	135377154	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	80	0	ENST00000354042.4:c.1137T>C	p.Thr379=	p.T379=	ENST00000354042	NM_012450.2	379	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS5840.1	1137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAGTCAC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	.	.	ENSP00000297282	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,synonymous_variant,p.%3D,ENST00000354042,;C7orf73,non_coding_transcript_exon_variant,,ENST00000422968,;C7orf73,downstream_gene_variant,,ENST00000509448,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;	1827	80	72	SUCCESS
TRIM24	8805	.	GRCh37	7	138239638	138239638	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201288398	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	9	209	0	ENST00000343526.4:c.1457G>A	p.Arg486Gln	p.R486Q	ENST00000343526		486	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS5847.1	1457	MUTECT|MUSE|VARSCANS	.	GCAACGGAGGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24103:SF136,hmmpanther:PTHR24103	.	.	ENSP00000340507	.	9/19	.	.	.	.	.	.	.	.	rs201288398	9/19	PASS	ENST00000343526	Transcript	.	.	ENSG00000122779	11812	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.637)	.	tolerated(0.69)	.	TIF1A_HUMAN	TRIM24	HGNC	B4DYZ9_HUMAN	.	UPI00000012CB	SNV	TRIM24,missense_variant,p.Arg486Gln,ENST00000343526,;TRIM24,intron_variant,,ENST00000415680,;TRIM24,non_coding_transcript_exon_variant,,ENST00000493595,;TRIM24,intron_variant,,ENST00000497516,;	1672	209	107	SUCCESS
KDM7A	80853	.	GRCh37	7	139791731	139791731	+	synonymous_variant	Silent	SNP	C	C	T	rs376853003	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	9	189	0	ENST00000397560.2:c.2604G>A	p.Ala868=	p.A868=	ENST00000397560	NM_030647.1	868	gcG/gcA	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS43658.1	2604	MUTECT|MUSE	.	TGGCACGCCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15	.	T:0.0001	ENSP00000380692	.	19/20	.	.	.	.	.	.	.	.	rs376853003	19/20	PASS	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,synonymous_variant,p.%3D,ENST00000397560,;KDM7A,downstream_gene_variant,,ENST00000006967,;Y_RNA,downstream_gene_variant,,ENST00000515919,;KDM7A,3_prime_UTR_variant,,ENST00000472616,;KDM7A,non_coding_transcript_exon_variant,,ENST00000478996,;	2702	189	170	SUCCESS
NOS3	4846	.	GRCh37	7	150708074	150708074	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	68	0	ENST00000297494.3:c.2984G>C	p.Gly995Ala	p.G995A	ENST00000297494	NM_000603.4	995	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS5912.1	2984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGGTAAG	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:2.40.30.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380	.	.	ENSP00000297494	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	tolerated(0.28)	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,missense_variant,p.Gly789Ala,ENST00000461406,;NOS3,missense_variant,p.Gly995Ala,ENST00000297494,;NOS3,missense_variant,p.Gly289Ala,ENST00000475017,;ATG9B,downstream_gene_variant,,ENST00000444312,;ATG9B,downstream_gene_variant,,ENST00000605938,;ATG9B,downstream_gene_variant,,ENST00000377974,;NOS3,splice_region_variant,,ENST00000477227,;NOS3,splice_region_variant,,ENST00000468293,;ATG9B,downstream_gene_variant,,ENST00000476282,;ATG9B,downstream_gene_variant,,ENST00000498521,;ATG9B,downstream_gene_variant,,ENST00000464855,;ATG9B,downstream_gene_variant,,ENST00000494791,;ATG9B,downstream_gene_variant,,ENST00000473698,;NOS3,downstream_gene_variant,,ENST00000473057,;ATG9B,downstream_gene_variant,,ENST00000486407,;ATG9B,downstream_gene_variant,,ENST00000471797,;ATG9B,downstream_gene_variant,,ENST00000404733,;NOS3,upstream_gene_variant,,ENST00000475454,;ATG9B,downstream_gene_variant,,ENST00000469530,;	3341	68	42	SUCCESS
KMT2C	58508	.	GRCh37	7	151970873	151970873	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	324	15	422	1	ENST00000262189.6:c.929G>T	p.Cys310Phe	p.C310F	ENST00000262189	NM_170606.2	310	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS5931.1	929	MUTECT|MUSE	.	CAGCACAAGGA	BUFFER|p.P309S|c.925C>T|4,BUFFER|p.P309S|c.925C>T|4	.	.	Pfam_domain:PF13771,SMART_domains:SM00249	.	.	ENSP00000262189	.	7/59	.	.	.	.	.	.	.	.	COSM1087663,COSM1087662	7/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	.	.	1,1	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Cys310Phe,ENST00000355193,;KMT2C,missense_variant,p.Cys310Phe,ENST00000262189,;KMT2C,missense_variant,p.Cys310Phe,ENST00000558084,;	1148	423	339	SUCCESS
INTS1	26173	.	GRCh37	7	1529320	1529320	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	73	0	ENST00000404767.3:c.2166-2A>T		p.X722_splice	ENST00000404767	NM_001080453.2	722		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47526.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTACCTGGAAG	NONE	.	.	.	.	.	ENSP00000385722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	HIGH	16/47	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,splice_acceptor_variant,,ENST00000404767,;INTS1,splice_acceptor_variant,,ENST00000389470,;INTS1,downstream_gene_variant,,ENST00000496988,;INTS1,splice_acceptor_variant,,ENST00000468115,;	.	73	57	SUCCESS
ADCYAP1R1	117	.	GRCh37	7	31104532	31104532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	88	0	ENST00000304166.4:c.137G>T	p.Gly46Val	p.G46V	ENST00000304166	NM_001199636.1	46	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS56480.1	137	RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGCTTCA	NONE	.	.	PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF111418,Prints_domain:PR01156	.	.	ENSP00000379514	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000396211	Transcript	.	.	ENSG00000078549	242	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.756)	.	tolerated(0.07)	.	PACR_HUMAN	ADCYAP1R1	HGNC	Q6S991_HUMAN,Q6RKA2_HUMAN,C9JVH3_HUMAN	.	UPI0000DA58BA	SNV	ADCYAP1R1,missense_variant,p.Gly46Val,ENST00000409363,;ADCYAP1R1,missense_variant,p.Gly46Val,ENST00000409489,;ADCYAP1R1,missense_variant,p.Gly46Val,ENST00000304166,;ADCYAP1R1,missense_variant,p.Gly46Val,ENST00000396211,;ADCYAP1R1,missense_variant,p.Gly46Val,ENST00000431811,;	208	88	43	SUCCESS
ZP3	7784	.	GRCh37	7	76071250	76071250	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	262	32	400	0	ENST00000394857.3:c.1152C>T	p.Asp384=	p.D384=	ENST00000394857	NM_001110354.1	384	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS47618.1	1152	RADIA|MUSE|VARSCANS	.	TCTGACACCTC	NONE	.	.	hmmpanther:PTHR11576:SF2,hmmpanther:PTHR11576	.	.	ENSP00000378326	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000394857	Transcript	.	.	ENSG00000188372	13189	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZP3_HUMAN	ZP3	HGNC	Q2XN66_HUMAN,E9PFI9_HUMAN	.	UPI000013CF77	SNV	ZP3,synonymous_variant,p.%3D,ENST00000394857,;ZP3,synonymous_variant,p.%3D,ENST00000336517,;ZP3,synonymous_variant,p.%3D,ENST00000394860,;ZP3,synonymous_variant,p.%3D,ENST00000416245,;ZP3,non_coding_transcript_exon_variant,,ENST00000479793,;ZP3,non_coding_transcript_exon_variant,,ENST00000467555,;ZP3,non_coding_transcript_exon_variant,,ENST00000466960,;	1210	400	294	SUCCESS
COL1A2	1278	.	GRCh37	7	94057038	94057038	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765271962	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	110	0	ENST00000297268.6:c.3367C>A	p.Arg1123Ser	p.R1123S	ENST00000297268	NM_000089.3	1123	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS34682.1	3367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCGCTCA	NONE	byFrequency	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	.	.	ENSP00000297268	.	49/52	.	.	.	.	.	.	.	.	rs765271962	49/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,missense_variant,p.Arg1123Ser,ENST00000297268,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000488121,;COL1A2,downstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,;	3838	110	79	SUCCESS
LMTK2	22853	.	GRCh37	7	97822981	97822981	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	59	0	ENST00000297293.5:c.3204T>C	p.Pro1068=	p.P1068=	ENST00000297293	NM_014916.3	1068	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5654.1	3204	MUTECT|MUSE	.	CTGCCTCCCAA	NONE	.	.	.	.	.	ENSP00000297293	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000297293	Transcript	.	.	ENSG00000164715	17880	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMTK2_HUMAN	LMTK2	HGNC	.	.	UPI000014F277	SNV	LMTK2,synonymous_variant,p.%3D,ENST00000297293,;	3497	59	54	SUCCESS
TRIM4	89122	.	GRCh37	7	99490170	99490171	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	101	16	124	0	ENST00000355947.2:c.1118dup	p.Asn373LysfsTer13	p.N373Kfs*13	ENST00000355947	NM_033017.3	373	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS5679.1	1118-1119	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAACGTTTTT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF91,hmmpanther:PTHR24103,Superfamily_domains:SSF49899	.	.	ENSP00000348216	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000355947	Transcript	.	.	ENSG00000146833	16275	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRIM4_HUMAN	TRIM4	HGNC	B4DEC5_HUMAN	.	UPI000013DA79	insertion	TRIM4,frameshift_variant,p.Asn347LysfsTer13,ENST00000349062,;TRIM4,frameshift_variant,p.Asn373LysfsTer13,ENST00000355947,;TRIM4,intron_variant,,ENST00000447480,;	1248-1249	124	117	SUCCESS
ZHX1	11244	.	GRCh37	8	124266621	124266621	+	synonymous_variant	Silent	SNP	T	T	C	rs373764646	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	93	0	ENST00000297857.2:c.1566A>G	p.Ser522=	p.S522=	ENST00000297857		522	tcA/tcG	0	G:0	.	.	.	.	C	S	protein_coding	YES	CCDS6342.1	1566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTGAATT	NONE	byCluster	.	PROSITE_profiles:PS50071,hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	G:0.0001	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	rs373764646	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	SNV	ZHX1,synonymous_variant,p.%3D,ENST00000395571,;ZHX1,synonymous_variant,p.%3D,ENST00000522655,;ZHX1,synonymous_variant,p.%3D,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000480132,;ZHX1,downstream_gene_variant,,ENST00000524267,;	2184	93	51	SUCCESS
CSMD1	64478	.	GRCh37	8	2799992	2799992	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	45	0	ENST00000537824.1:c.10535+2T>G		p.X3512_splice	ENST00000537824	NM_033225.5	3512		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55189.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTACCTGT	NONE	.	.	.	.	.	ENSP00000441462	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	HIGH	69/69	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,splice_donor_variant,,ENST00000400186,;CSMD1,splice_donor_variant,,ENST00000542608,;CSMD1,splice_donor_variant,,ENST00000602723,;CSMD1,splice_donor_variant,,ENST00000335551,;CSMD1,splice_donor_variant,,ENST00000537824,;CSMD1,splice_donor_variant,,ENST00000602557,;CSMD1,splice_donor_variant,,ENST00000520002,;	.	45	36	SUCCESS
CSMD1	64478	.	GRCh37	8	3443701	3443701	+	synonymous_variant	Silent	SNP	T	T	C	rs770764898	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	71	0	ENST00000537824.1:c.1179A>G	p.Thr393=	p.T393=	ENST00000537824	NM_033225.5	393	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS55189.1	1179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTGTAAC	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	9/70	.	.	.	.	.	.	.	.	rs770764898	9/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519090,;	1179	71	65	SUCCESS
CHRNB3	1142	.	GRCh37	8	42587427	42587427	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	156	279	0	ENST00000289957.2:c.977C>T	p.Ser326Phe	p.S326F	ENST00000289957	NM_000749.3	326	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS6134.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCCACGT	NONE	.	.	Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.120.370,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945	.	.	ENSP00000289957	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000289957	Transcript	.	.	ENSG00000147432	1963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	ACHB3_HUMAN	CHRNB3	HGNC	.	.	UPI0000125272	SNV	CHRNB3,missense_variant,p.Ser326Phe,ENST00000289957,;	1105	279	395	SUCCESS
ARFGEF1	10565	.	GRCh37	8	68184028	68184028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	5	101	0	ENST00000262215.3:c.1481T>C	p.Val494Ala	p.V494A	ENST00000262215	NM_006421.4	494	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6199.1	1481	MUTECT|MUSE	.	ATGAGACTCCA	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Gene3D:1.25.10.10,Pfam_domain:PF12783,Superfamily_domains:SSF48371	.	.	ENSP00000262215	.	10/39	.	.	.	.	.	.	.	.	.	10/39	PASS	ENST00000262215	Transcript	.	.	ENSG00000066777	15772	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.344)	.	deleterious(0.03)	.	BIG1_HUMAN	ARFGEF1	HGNC	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN	.	UPI000013D275	SNV	ARFGEF1,missense_variant,p.Val494Ala,ENST00000262215,;ARFGEF1,upstream_gene_variant,,ENST00000520381,;	1871	101	129	SUCCESS
CRISPLD1	83690	.	GRCh37	8	75932132	75932132	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	191	0	ENST00000262207.4:c.1155A>G	p.Thr385=	p.T385=	ENST00000262207	NM_031461.5	385	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS6219.1	1155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGTCTC	NONE	.	.	hmmpanther:PTHR10334:SF73,hmmpanther:PTHR10334,Gene3D:1jbiA00,Superfamily_domains:0039469	.	.	ENSP00000262207	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000262207	Transcript	.	.	ENSG00000121005	18206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRLD1_HUMAN	CRISPLD1	HGNC	E5RJS4_HUMAN,B7Z8V9_HUMAN	.	UPI00000422F5	SNV	CRISPLD1,synonymous_variant,p.%3D,ENST00000262207,;CRISPLD1,synonymous_variant,p.%3D,ENST00000517786,;CRISPLD1,synonymous_variant,p.%3D,ENST00000523524,;	1623	191	152	SUCCESS
PMP2	5375	.	GRCh37	8	82357106	82357106	+	synonymous_variant	Silent	SNP	G	G	C	rs751438413	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	103	0	ENST00000256103.2:c.192C>G	p.Ser64=	p.S64=	ENST00000256103	NM_002677.3	64	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6229.1	192	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGGAGAT	NONE	.	.	Prints_domain:PR00178,Superfamily_domains:SSF50814,Pfam_domain:PF00061,Gene3D:2.40.128.20,hmmpanther:PTHR11955:SF64,hmmpanther:PTHR11955	.	.	ENSP00000256103	.	2/4	.	.	.	.	.	.	.	.	rs751438413,COSM1553584	2/4	PASS	ENST00000256103	Transcript	.	.	ENSG00000147588	9117	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	MYP2_HUMAN	PMP2	HGNC	.	.	UPI000013CEEB	SNV	PMP2,synonymous_variant,p.%3D,ENST00000256103,;PMP2,intron_variant,,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;	329	103	97	SUCCESS
ATP6V0D2	245972	.	GRCh37	8	87165053	87165053	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	78	0	ENST00000285393.3:c.900G>T	p.Met300Ile	p.M300I	ENST00000285393	NM_152565.1	300	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS6241.1	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGAATGT	NONE	.	.	hmmpanther:PTHR11028:SF2,hmmpanther:PTHR11028,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,Superfamily_domains:0044678	.	.	ENSP00000285393	.	8/8	.	.	.	.	.	.	.	.	COSM454905	8/8	PASS	ENST00000285393	Transcript	.	.	ENSG00000147614	18266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.012)	.	tolerated(0.17)	1	VA0D2_HUMAN	ATP6V0D2	HGNC	E5RIR3_HUMAN,E5RHJ7_HUMAN	.	UPI0000051F69	SNV	ATP6V0D2,missense_variant,p.Met300Ile,ENST00000285393,;CTD-3118D11.2,intron_variant,,ENST00000522679,;CTD-3118D11.2,downstream_gene_variant,,ENST00000524253,;	1042	78	58	SUCCESS
CNGB3	54714	.	GRCh37	8	87755800	87755800	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	110	365	0	ENST00000320005.5:c.56A>T	p.Glu19Val	p.E19V	ENST00000320005	NM_019098.4	19	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6244.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTCATTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000316605	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0)	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,missense_variant,p.Glu19Val,ENST00000320005,;RP11-386D6.1,intron_variant,,ENST00000519041,;CNGB3,non_coding_transcript_exon_variant,,ENST00000519777,;	104	365	258	SUCCESS
DAB2IP	153090	.	GRCh37	9	124535287	124535287	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	125	0	ENST00000408936.3:c.2480C>G	p.Ser827Cys	p.S827C	ENST00000408936		827	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS6833.2	2396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCTTCC	NONE	.	.	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Pfam_domain:PF12004	.	.	ENSP00000259371	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000259371	Transcript	.	.	ENSG00000136848	17294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.02)	.	DAB2P_HUMAN	DAB2IP	HGNC	H0Y3A3_HUMAN,F8WA47_HUMAN,F6R503_HUMAN,B3KW96_HUMAN	.	UPI0000D77E70	SNV	DAB2IP,missense_variant,p.Ser827Cys,ENST00000408936,;DAB2IP,missense_variant,p.Ser799Cys,ENST00000259371,;DAB2IP,missense_variant,p.Ser736Cys,ENST00000373782,;DAB2IP,missense_variant,p.Ser703Cys,ENST00000309989,;DAB2IP,downstream_gene_variant,,ENST00000459906,;	2465	125	87	SUCCESS
PRSS3	5646	.	GRCh37	9	33796749	33796749	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778294764	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	18	203	0	ENST00000361005.5:c.320G>A	p.Gly107Asp	p.G107D	ENST00000361005	NM_007343.3	107	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47958.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGCTCCC	NONE	.	.	Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24264:SF15,hmmpanther:PTHR24264,PROSITE_profiles:PS50240	.	.	ENSP00000354280	.	2/5	.	.	.	.	.	.	.	.	rs778294764	2/5	PASS	ENST00000361005	Transcript	.	.	ENSG00000010438	9486	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TRY3_HUMAN	PRSS3	HGNC	.	.	UPI000013C519	SNV	PRSS3,missense_variant,p.Gly50Asp,ENST00000379405,;PRSS3,missense_variant,p.Gly64Asp,ENST00000342836,;PRSS3,missense_variant,p.Gly107Asp,ENST00000361005,;PRSS3,missense_variant,p.Gly43Asp,ENST00000429677,;PRSS3,missense_variant,p.Gly62Asp,ENST00000457896,;RP11-133O22.6,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;	320	203	143	SUCCESS
PDCD1LG2	80380	.	GRCh37	9	5549465	5549465	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	149	1	ENST00000397747.3:c.492C>A	p.Thr164=	p.T164=	ENST00000397747	NM_025239.3	164	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6465.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACCAGCCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF56,Gene3D:2.60.40.10,Pfam_domain:PF13927,Superfamily_domains:SSF48726	.	.	ENSP00000380855	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000397747	Transcript	.	.	ENSG00000197646	18731	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PD1L2_HUMAN	PDCD1LG2	HGNC	.	.	UPI0000050EF2	SNV	PDCD1LG2,synonymous_variant,p.%3D,ENST00000397747,;PDCD1LG2,intron_variant,,ENST00000397745,;	740	150	67	SUCCESS
MAP7D3	79649	.	GRCh37	X	135314089	135314089	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs762497051	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	50	103	0	ENST00000316077.9:c.1027G>C	p.Val343Leu	p.V343L	ENST00000316077	NM_024597.3	343	Gtg/Ctg	0	.	T:0	.	T:0	.	G	V/L	protein_coding	YES	CCDS44004.1	1027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACGCTCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR15073:SF5,hmmpanther:PTHR15073,Low_complexity_(Seg):seg	T:0	.	ENSP00000318086	T:0.001	8/19	.	.	.	.	.	.	.	.	rs762497051,COSM4106887	8/19	PASS	ENST00000316077	Transcript	.	T:0.0003	ENSG00000129680	25742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.019)	T:0	tolerated(0.35)	0,1	MA7D3_HUMAN	MAP7D3	HGNC	.	.	UPI00001C207C	SNV	MAP7D3,missense_variant,p.Val325Leu,ENST00000370663,;MAP7D3,missense_variant,p.Val308Leu,ENST00000370661,;MAP7D3,missense_variant,p.Val302Leu,ENST00000370660,;MAP7D3,missense_variant,p.Val343Leu,ENST00000316077,;MAP7D3,upstream_gene_variant,,ENST00000477124,;MAP7D3,upstream_gene_variant,,ENST00000495432,;MAP7D3,upstream_gene_variant,,ENST00000489788,;	1248	103	90	SUCCESS
MAGEC2	51438	.	GRCh37	X	141291370	141291370	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1256910607	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	35	0	ENST00000247452.3:c.404C>T	p.Ser135Phe	p.S135F	ENST00000247452	NM_016249.3	135	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS14678.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGACTCA	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29	.	.	ENSP00000354660	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000247452	Transcript	.	.	ENSG00000046774	13574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.3)	.	MAGC2_HUMAN	MAGEC2	HGNC	.	.	UPI000012F059	SNV	MAGEC2,missense_variant,p.Ser135Phe,ENST00000247452,;	752	35	33	SUCCESS
TMEM185A	84548	.	GRCh37	X	148693147	148693147	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs376945268	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	56	0	ENST00000316916.8:c.39-1G>T		p.X13_splice	ENST00000316916	NM_032508.2	13		0	A:0.0003	.	.	.	.	A	.	protein_coding	YES	CCDS14689.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACTAGGA	NONE	byCluster	.	.	.	A:0	ENSP00000359449	.	.	.	.	.	.	.	.	.	.	rs376945268	.	PASS	ENST00000316916	Transcript	.	.	ENSG00000155984	17125	.	.	HIGH	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T185A_HUMAN	TMEM185A	HGNC	.	.	UPI0001AE6FF9	SNV	TMEM185A,splice_acceptor_variant,,ENST00000316916,;TMEM185A,splice_acceptor_variant,,ENST00000507237,;TMEM185A,intron_variant,,ENST00000511776,;TMEM185A,intron_variant,,ENST00000536359,;TMEM185A,upstream_gene_variant,,ENST00000502858,;TMEM185A,splice_acceptor_variant,,ENST00000502900,;TMEM185A,intron_variant,,ENST00000513505,;TMEM185A,upstream_gene_variant,,ENST00000502618,;TMEM185A,upstream_gene_variant,,ENST00000517359,;	.	56	52	SUCCESS
ATP2B3	492	.	GRCh37	X	152835147	152835147	+	intron_variant	Intron	SNP	C	C	T	rs147874519	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	36	122	0	ENST00000263519.4:c.3342+4586C>T		p.*1114*	ENST00000263519	NM_001001344.2			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS35440.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACGTAAC	NONE	byFrequency|byCluster|by1000G	.	.	.	T:0.0004	ENSP00000263519	.	.	.	.	.	.	.	.	.	.	rs147874519,COSM159273,COSM159274	.	PASS	ENST00000263519	Transcript	.	.	ENSG00000067842	816	.	.	MODIFIER	19/19	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,synonymous_variant,p.%3D,ENST00000393842,;ATP2B3,synonymous_variant,p.%3D,ENST00000359149,;ATP2B3,synonymous_variant,p.%3D,ENST00000370181,;ATP2B3,synonymous_variant,p.%3D,ENST00000370186,;ATP2B3,intron_variant,,ENST00000263519,;ATP2B3,intron_variant,,ENST00000349466,;ATP2B3,splice_region_variant,,ENST00000496610,;	.	122	171	SUCCESS
TGIF2LX	90316	.	GRCh37	X	89177229	89177229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	57	138	0	ENST00000283891.5:c.145C>A	p.His49Asn	p.H49N	ENST00000283891	NM_138960.3	49	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS14459.1	145	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCACAAG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	.	.	ENSP00000453704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000561129	Transcript	.	.	ENSG00000153779	18570	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.59)	.	TF2LX_HUMAN	TGIF2LX	HGNC	.	.	UPI0000074793	SNV	TGIF2LX,missense_variant,p.His49Asn,ENST00000283891,;TGIF2LX,missense_variant,p.His49Asn,ENST00000561129,;	275	138	125	SUCCESS
PCDH19	57526	.	GRCh37	X	99551540	99551540	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756173536	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	60	0	ENST00000373034.4:c.3182C>A	p.Ala1061Glu	p.A1061E	ENST00000373034	NM_001184880.1	1061	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS55462.1	3182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCGCCTCA	NONE	byFrequency	.	.	.	.	ENSP00000362125	.	6/6	.	.	.	.	.	.	.	.	rs756173536	6/6	PASS	ENST00000373034	Transcript	.	.	ENSG00000165194	14270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious_low_confidence(0)	.	PCD19_HUMAN	PCDH19	HGNC	.	.	UPI00001D7BCD	SNV	PCDH19,missense_variant,p.Ala1013Glu,ENST00000420881,;PCDH19,missense_variant,p.Ala1014Glu,ENST00000255531,;PCDH19,missense_variant,p.Ala1061Glu,ENST00000373034,;PCDH19,upstream_gene_variant,,ENST00000464981,;	4858	60	41	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4966401	4966401	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	19	257	0	ENST00000400457.2:c.719G>C	p.Arg240Thr	p.R240T	ENST00000400457	NM_032973.2	240	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS14777.1	782	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGATCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	COSM287703,COSM179099	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.627)	.	deleterious(0)	1,1	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Arg261Thr,ENST00000215473,;PCDH11Y,missense_variant,p.Arg250Thr,ENST00000333703,;PCDH11Y,missense_variant,p.Arg240Thr,ENST00000400457,;PCDH11Y,missense_variant,p.Arg261Thr,ENST00000362095,;	1516	257	156	SUCCESS
ASB13	79754	.	GRCh37	10	5691033	5691033	+	synonymous_variant	Silent	SNP	G	G	A	rs748891348	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	57	88	0	ENST00000357700.6:c.417C>T	p.Val139=	p.V139=	ENST00000357700	NM_024701.3	139	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7070.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGACGTC	NONE	byFrequency	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24196,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000350331	.	4/6	.	.	.	.	.	.	.	.	rs748891348	4/6	PASS	ENST00000357700	Transcript	.	.	ENSG00000196372	19765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB13_HUMAN	ASB13	HGNC	.	.	UPI00001260DE	SNV	ASB13,synonymous_variant,p.%3D,ENST00000357700,;ASB13,non_coding_transcript_exon_variant,,ENST00000482921,;ASB13,non_coding_transcript_exon_variant,,ENST00000479033,;ASB13,synonymous_variant,p.%3D,ENST00000459912,;	444	88	96	SUCCESS
KAT6B	23522	.	GRCh37	10	76790247	76790247	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781631671	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	66	98	0	ENST00000287239.4:c.5665A>G	p.Met1889Val	p.M1889V	ENST00000287239	NM_001256468.1	1889	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS7345.1	5665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAATGAAT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615	.	.	ENSP00000287239	.	18/18	.	.	.	.	.	.	.	.	rs781631671	18/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	SNV	KAT6B,missense_variant,p.Met1706Val,ENST00000372711,;KAT6B,missense_variant,p.Met1597Val,ENST00000372714,;KAT6B,missense_variant,p.Met1597Val,ENST00000372725,;KAT6B,missense_variant,p.Met1597Val,ENST00000372724,;KAT6B,missense_variant,p.Met1889Val,ENST00000287239,;KAT6B,downstream_gene_variant,,ENST00000490365,;	6154	98	196	SUCCESS
PNPLA2	57104	.	GRCh37	11	822492	822492	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	47	123	1	ENST00000336615.4:c.582T>C	p.Cys194=	p.C194=	ENST00000336615	NM_020376.3	194	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS7718.1	582	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGTCCGCA	NONE	.	.	hmmpanther:PTHR12406:SF24,hmmpanther:PTHR12406,Superfamily_domains:SSF52151	.	.	ENSP00000337701	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000336615	Transcript	.	.	ENSG00000177666	30802	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPL2_HUMAN	PNPLA2	HGNC	.	.	UPI000003731E	SNV	PNPLA2,synonymous_variant,p.%3D,ENST00000336615,;EFCAB4A,upstream_gene_variant,,ENST00000528315,;EFCAB4A,upstream_gene_variant,,ENST00000530183,;EFCAB4A,upstream_gene_variant,,ENST00000533803,;EFCAB4A,upstream_gene_variant,,ENST00000527089,;AP006621.8,downstream_gene_variant,,ENST00000532946,;AP006621.8,downstream_gene_variant,,ENST00000528982,;PNPLA2,non_coding_transcript_exon_variant,,ENST00000525250,;PNPLA2,non_coding_transcript_exon_variant,,ENST00000531923,;EFCAB4A,upstream_gene_variant,,ENST00000534191,;PNPLA2,upstream_gene_variant,,ENST00000526083,;PNPLA2,downstream_gene_variant,,ENST00000534561,;PNPLA2,upstream_gene_variant,,ENST00000529255,;EFCAB4A,upstream_gene_variant,,ENST00000534606,;	784	125	74	SUCCESS
CIT	11113	.	GRCh37	12	120241020	120241020	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs145965687	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	49	103	0	ENST00000261833.7:c.1285G>C	p.Gly429Arg	p.G429R	ENST00000261833	NM_007174.2	429	Ggt/Cgt	0	.	T:0	.	T:0	.	G	G/R	protein_coding	YES	CCDS55891.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACCAAGAA	NONE	byFrequency|byCluster|by1000G	.	PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PROSITE_profiles:PS51285	T:0.003	.	ENSP00000376306	T:0	10/48	.	.	.	.	.	.	.	.	rs145965687	10/48	PASS	ENST00000392521	Transcript	.	T:0.0006	ENSG00000122966	1985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	T:0	tolerated(0.08)	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Gly57Arg,ENST00000392520,;CIT,missense_variant,p.Gly429Arg,ENST00000261833,;CIT,missense_variant,p.Gly429Arg,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000539413,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000488203,;	1341	103	73	SUCCESS
NCOR2	9612	.	GRCh37	12	124824953	124824953	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773108865	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	80	0	ENST00000405201.1:c.5375C>T	p.Ser1792Phe	p.S1792F	ENST00000405201		1792	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS41858.2	5375	MUTECT|MUSE	.	ACGAGGACGTG	NONE	byFrequency	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	36/47	.	.	.	.	.	.	.	.	rs773108865	36/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Ser1799Phe,ENST00000356219,;NCOR2,missense_variant,p.Ser122Phe,ENST00000453428,;NCOR2,missense_variant,p.Ser27Phe,ENST00000440187,;NCOR2,missense_variant,p.Ser1353Phe,ENST00000404121,;NCOR2,missense_variant,p.Ser1782Phe,ENST00000429285,;NCOR2,missense_variant,p.Ser1792Phe,ENST00000405201,;NCOR2,missense_variant,p.Ser1782Phe,ENST00000404621,;NCOR2,missense_variant,p.Ser1783Phe,ENST00000397355,;NCOR2,upstream_gene_variant,,ENST00000461081,;	5376	80	46	SUCCESS
ARID2	196528	.	GRCh37	12	46246364	46246376	+	frameshift_variant	Frame_Shift_Del	DEL	TCCCGACTCAGGA	TCCCGACTCAGGA	-	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	TCCCGACTCAGGA	TCCCGACTCAGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	187	0	ENST00000334344.6:c.4460_4472del	p.Pro1487GlnfsTer25	p.P1487Qfs*25	ENST00000334344	NM_152641.2	1486	gtTCCCGACTCAGGA/gt	0	.	.	.	.	.	-	VPDSG/X	protein_coding	YES	CCDS31783.1	4458-4470	INDELOCATOR|VARSCANI	.	AGCAGTTCCCGACTCAGGATCAAA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	deletion	ARID2,frameshift_variant,p.Pro1487GlnfsTer25,ENST00000334344,;ARID2,frameshift_variant,p.Pro1097GlnfsTer25,ENST00000444670,;ARID2,frameshift_variant,p.Pro1338GlnfsTer25,ENST00000422737,;ARID2,frameshift_variant,p.Pro95GlnfsTer25,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	4630-4642	187	78	SUCCESS
F10	2159	.	GRCh37	13	113803258	113803258	+	synonymous_variant	Silent	SNP	C	C	T	rs778741024	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	329	21	303	0	ENST00000375559.3:c.894C>T	p.Gly298=	p.G298=	ENST00000375559	NM_000504.3	298	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9530.1	894	MUTECT|MUSE	.	GAGGGCGGTGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50240,hmmpanther:PTHR24265:SF40,hmmpanther:PTHR24265,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF001143,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000364709	.	8/8	.	.	.	.	.	.	.	.	rs778741024	8/8	PASS	ENST00000375559	Transcript	.	.	ENSG00000126218	3528	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA10_HUMAN	F10	HGNC	Q5JVE7_HUMAN	.	UPI000000DB39	SNV	F10,missense_variant,p.Ala297Val,ENST00000409306,;F10,missense_variant,p.Ala295Val,ENST00000375551,;F10,synonymous_variant,p.%3D,ENST00000375559,;F10,downstream_gene_variant,,ENST00000410083,;F10,downstream_gene_variant,,ENST00000477269,;F10,downstream_gene_variant,,ENST00000498455,;	932	303	351	SUCCESS
FARP1	10160	.	GRCh37	13	99038053	99038053	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	23	0	ENST00000319562.6:c.744A>T	p.Gly248=	p.G248=	ENST00000319562	NM_005766.2	248	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9487.1	744	RADIA|MUTECT|MUSE	.	ACGGGAATTCT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Gene3D:2.30.29.30,Pfam_domain:PF09380,Superfamily_domains:SSF50729,Prints_domain:PR00661	.	.	ENSP00000322926	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,synonymous_variant,p.%3D,ENST00000376586,;FARP1,synonymous_variant,p.%3D,ENST00000595437,;FARP1,synonymous_variant,p.%3D,ENST00000319562,;FARP1,synonymous_variant,p.%3D,ENST00000601009,;FARP1,downstream_gene_variant,,ENST00000599040,;FARP1,downstream_gene_variant,,ENST00000598389,;FARP1,non_coding_transcript_exon_variant,,ENST00000595380,;FARP1,downstream_gene_variant,,ENST00000602263,;FARP1,downstream_gene_variant,,ENST00000593548,;FARP1,downstream_gene_variant,,ENST00000601853,;FARP1,downstream_gene_variant,,ENST00000595817,;FARP1,downstream_gene_variant,,ENST00000600032,;FARP1,non_coding_transcript_exon_variant,,ENST00000596467,;FARP1,upstream_gene_variant,,ENST00000600190,;FARP1,downstream_gene_variant,,ENST00000490389,;	1009	23	32	SUCCESS
NYNRIN	57523	.	GRCh37	14	24884365	24884365	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	11	34	0	ENST00000382554.3:c.3410C>T	p.Ala1137Val	p.A1137V	ENST00000382554	NM_025081.2	1137	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45090.1	3410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCTTCC	NONE	.	.	Superfamily_domains:SSF56672,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Ala1137Val,ENST00000382554,;NYNRIN,downstream_gene_variant,,ENST00000554505,;	3728	34	14	SUCCESS
WDHD1	11169	.	GRCh37	14	55408242	55408242	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	46	105	1	ENST00000360586.3:c.3356A>G	p.Gln1119Arg	p.Q1119R	ENST00000360586	NM_007086.3	1119	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9721.1	3356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTGATTT	NONE	.	.	hmmpanther:PTHR19932,hmmpanther:PTHR19932:SF10	.	.	ENSP00000353793	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000360586	Transcript	.	.	ENSG00000198554	23170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	tolerated(0.28)	.	WDHD1_HUMAN	WDHD1	HGNC	C9JYB3_HUMAN,C9JW18_HUMAN	.	UPI0000125AC6	SNV	WDHD1,missense_variant,p.Gln996Arg,ENST00000420358,;WDHD1,missense_variant,p.Gln996Arg,ENST00000421192,;WDHD1,missense_variant,p.Gln637Arg,ENST00000359167,;WDHD1,missense_variant,p.Gln1119Arg,ENST00000360586,;WDHD1,3_prime_UTR_variant,,ENST00000567693,;WDHD1,non_coding_transcript_exon_variant,,ENST00000475379,;	3422	106	74	SUCCESS
ANKRD11	29123	.	GRCh37	16	89341222	89341227	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	CTGGCT	CTGGCT	-	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	CTGGCT	CTGGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	83	0	ENST00000301030.4:c.7708_7713del	p.Ser2570_Gln2571del	p.S2570_Q2571del	ENST00000301030	NM_001256183.1	2570	AGCCAG/-	0	.	.	.	.	.	-	SQ/-	protein_coding	YES	CCDS32513.1	7708-7713	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTACCTGGCTCTCCA	NONE	.	.	hmmpanther:PTHR24145	.	.	ENSP00000301030	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	deletion	ANKRD11,inframe_deletion,p.Ser2570_Gln2571del,ENST00000378330,;ANKRD11,inframe_deletion,p.Ser2570_Gln2571del,ENST00000301030,;ANKRD11,inframe_deletion,p.Ser131_Gln132del,ENST00000562194,;AC137932.1,downstream_gene_variant,,ENST00000602042,;ANKRD11,splice_region_variant,,ENST00000330736,;	8169-8174	83	61	SUCCESS
TRIM16L	147166	.	GRCh37	17	18638692	18638692	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	63	150	0	ENST00000395671.4:c.966G>T	p.Lys322Asn	p.K322N	ENST00000395671	NM_001037330.1	322	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS32588.1	966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGAAGGA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF86,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000461386	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000449552	Transcript	.	.	ENSG00000108448	32670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.05)	.	TR16L_HUMAN	TRIM16L	HGNC	I3L3K9_HUMAN,I3L2F3_HUMAN,I3L1X9_HUMAN	.	UPI0000199A7B	SNV	TRIM16L,missense_variant,p.Lys322Asn,ENST00000395671,;TRIM16L,missense_variant,p.Lys376Asn,ENST00000395902,;TRIM16L,missense_variant,p.Lys322Asn,ENST00000571708,;TRIM16L,missense_variant,p.Lys322Asn,ENST00000395672,;TRIM16L,missense_variant,p.Lys322Asn,ENST00000572555,;TRIM16L,missense_variant,p.Lys322Asn,ENST00000449552,;TRIM16L,3_prime_UTR_variant,,ENST00000414850,;TRIM16L,intron_variant,,ENST00000574042,;TRIM16L,downstream_gene_variant,,ENST00000424146,;TRIM16L,downstream_gene_variant,,ENST00000571542,;TRIM16L,downstream_gene_variant,,ENST00000573443,;TRIM16L,downstream_gene_variant,,ENST00000571733,;TRIM16L,downstream_gene_variant,,ENST00000577969,;	2450	150	150	SUCCESS
WSB1	26118	.	GRCh37	17	25630657	25630657	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	105	0	ENST00000262394.2:c.474T>A	p.Tyr158Ter	p.Y158*	ENST00000262394	NM_015626.8	158	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS11220.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATATACAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR15622:SF12,hmmpanther:PTHR15622,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000262394	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000262394	Transcript	.	.	ENSG00000109046	19221	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WSB1_HUMAN	WSB1	HGNC	.	.	UPI0000031568	SNV	WSB1,stop_gained,p.Tyr158Ter,ENST00000262394,;WSB1,stop_gained,p.Tyr158Ter,ENST00000581185,;WSB1,stop_gained,p.Tyr165Ter,ENST00000581440,;WSB1,stop_gained,p.Tyr127Ter,ENST00000427287,;WSB1,intron_variant,,ENST00000348811,;WSB1,intron_variant,,ENST00000579733,;WSB1,intron_variant,,ENST00000584114,;WSB1,intron_variant,,ENST00000583193,;WSB1,downstream_gene_variant,,ENST00000583742,;WSB1,downstream_gene_variant,,ENST00000583786,;WSB1,downstream_gene_variant,,ENST00000578312,;WSB1,non_coding_transcript_exon_variant,,ENST00000581089,;WSB1,non_coding_transcript_exon_variant,,ENST00000467843,;WSB1,non_coding_transcript_exon_variant,,ENST00000487603,;WSB1,non_coding_transcript_exon_variant,,ENST00000583096,;WSB1,intron_variant,,ENST00000582208,;WSB1,downstream_gene_variant,,ENST00000584354,;	790	105	82	SUCCESS
PHF12	57649	.	GRCh37	17	27278059	27278059	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	58	0	ENST00000332830.4:c.-81G>T		p.*27*	ENST00000332830	NM_001033561.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32598.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGCTCCTG	NONE	.	.	.	.	.	ENSP00000329933	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000332830	Transcript	.	.	ENSG00000109118	20816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHF12_HUMAN	PHF12	HGNC	K7ERZ4_HUMAN,K7ENU0_HUMAN,K7EMX6_HUMAN	.	UPI0000197E05	SNV	PHF12,5_prime_UTR_variant,,ENST00000577226,;PHF12,5_prime_UTR_variant,,ENST00000268756,;PHF12,5_prime_UTR_variant,,ENST00000332830,;PHF12,intron_variant,,ENST00000584685,;SEZ6,downstream_gene_variant,,ENST00000360295,;PHF12,upstream_gene_variant,,ENST00000584236,;SEZ6,downstream_gene_variant,,ENST00000442608,;SEZ6,downstream_gene_variant,,ENST00000317338,;SEZ6,downstream_gene_variant,,ENST00000540632,;SEZ6,downstream_gene_variant,,ENST00000535262,;PHF12,upstream_gene_variant,,ENST00000583747,;PHF12,upstream_gene_variant,,ENST00000582853,;PIPOX,intron_variant,,ENST00000580383,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,upstream_gene_variant,,ENST00000578748,;PIPOX,upstream_gene_variant,,ENST00000577182,;PHF12,upstream_gene_variant,,ENST00000483934,;PHF12,5_prime_UTR_variant,,ENST00000583524,;PHF12,5_prime_UTR_variant,,ENST00000378879,;SEZ6,downstream_gene_variant,,ENST00000540419,;PHF12,upstream_gene_variant,,ENST00000582436,;	731	58	61	SUCCESS
GHDC	84514	.	GRCh37	17	40343211	40343211	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	65	0	ENST00000301671.8:c.907C>G	p.Leu303Val	p.L303V	ENST00000301671		303	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS11422.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAGGTTTA	NONE	.	.	hmmpanther:PTHR31901,hmmpanther:PTHR31901:SF5,Pfam_domain:PF03321	.	.	ENSP00000301671	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000301671	Transcript	.	.	ENSG00000167925	24438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	GHDC_HUMAN	GHDC	HGNC	K7EQ41_HUMAN,K7EL54_HUMAN	.	UPI000006E533	SNV	GHDC,missense_variant,p.Leu303Val,ENST00000414034,;GHDC,missense_variant,p.Leu303Val,ENST00000436923,;GHDC,missense_variant,p.Leu264Val,ENST00000428494,;GHDC,missense_variant,p.Leu303Val,ENST00000587427,;GHDC,missense_variant,p.Leu303Val,ENST00000301671,;GHDC,missense_variant,p.Leu303Val,ENST00000593209,;GHDC,downstream_gene_variant,,ENST00000590249,;GHDC,downstream_gene_variant,,ENST00000588352,;GHDC,downstream_gene_variant,,ENST00000590520,;GHDC,downstream_gene_variant,,ENST00000586692,;GHDC,upstream_gene_variant,,ENST00000585735,;GHDC,downstream_gene_variant,,ENST00000585375,;GHDC,downstream_gene_variant,,ENST00000588762,;	1349	65	66	SUCCESS
RNF157	114804	.	GRCh37	17	74169787	74169787	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144334591	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	54	130	0	ENST00000269391.6:c.292G>A	p.Val98Ile	p.V98I	ENST00000269391	NM_052916.2	98	Gtc/Atc	0	T:0.0005	.	.	.	.	T	V/I	protein_coding	YES	CCDS32740.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGACGAGCC	NONE	byCluster	.	hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996	.	T:0	ENSP00000269391	.	3/19	.	.	.	.	.	.	.	.	rs144334591	3/19	PASS	ENST00000269391	Transcript	.	.	ENSG00000141576	29402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	tolerated(0.07)	.	RN157_HUMAN	RNF157	HGNC	.	.	UPI00001C1FDD	SNV	RNF157,missense_variant,p.Val98Ile,ENST00000269391,;RNF157,missense_variant,p.Val98Ile,ENST00000319945,;	425	130	114	SUCCESS
TP53	7157	.	GRCh37	17	7579349	7579349	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1567555667	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	72	181	0	ENST00000269305.4:c.338T>G	p.Phe113Cys	p.F113C	ENST00000269305	NM_001126112.2	113	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS11118.1	338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGAAGCCC	SITE|p.F113C|c.338T>G|4,SITE|p.F113C|c.338T>G|8,SITE|p.F113C|c.338T>G|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.G59fs*23|c.175_374del200|3,CODON|p.F113L|c.339C>G|4,CODON|p.F113S|c.338T>C|3,BUFFER|p.T118fs*5|c.349delG|3,BUFFER|p.F113V|c.337T>G|3,BUFFER|p.F113V|c.337T>G|3,BUFFER|p.F113V|c.337T>G|6,BUFFER|p.L111R|c.332T>G|5,BUFFER|p.L111Q|c.332T>A|7,BUFFER|p.L111P|c.332T>C|9,BUFFER|p.L111Q|c.332T>A|3,BUFFER|p.L111R|c.332T>G|10,BUFFER|p.L111Q|c.332T>A|3,BUFFER|p.L111P|c.332T>C|3,BUFFER|p.L111R|c.332T>G|5,BUFFER|p.L111P|c.332T>C|3,BUFFER|p.R110fs*13|c.329delG|3,BUFFER|p.R110fs*13|c.328delC|4,BUFFER|p.R110L|c.329G>T|27,BUFFER|p.R110P|c.329G>C|11,BUFFER|p.R110L|c.329G>T|5,BUFFER|p.R110L|c.329G>T|8,BUFFER|p.R110L|c.329G>T|8,BUFFER|p.R110C|c.328C>T|6	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	TP53_g.11569T>C,TP53_g.11569T>G,COSM11780,COSM10717,COSM287503,COSM287502,COSM4139893,COSM2745003	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Phe113Cys,ENST00000508793,;TP53,missense_variant,p.Phe113Cys,ENST00000413465,;TP53,missense_variant,p.Phe113Cys,ENST00000604348,;TP53,missense_variant,p.Phe113Cys,ENST00000420246,;TP53,missense_variant,p.Phe113Cys,ENST00000269305,;TP53,missense_variant,p.Phe113Cys,ENST00000359597,;TP53,missense_variant,p.Phe113Cys,ENST00000445888,;TP53,missense_variant,p.Phe113Cys,ENST00000503591,;TP53,missense_variant,p.Phe113Cys,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	528	181	121	SUCCESS
USP36	57602	.	GRCh37	17	76798437	76798437	+	synonymous_variant	Silent	SNP	G	G	A	rs368705721	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	34	101	0	ENST00000542802.3:c.2991C>T	p.Ser997=	p.S997=	ENST00000542802		997	tcC/tcT	0	.	A:0	.	A:0.0014	.	A	S	protein_coding	YES	CCDS32755.1	2991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGCGGATGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24006:SF409,hmmpanther:PTHR24006	A:0	.	ENSP00000441214	A:0	17/21	.	.	.	.	.	.	.	.	rs368705721	17/21	common_in_exac	ENST00000542802	Transcript	.	A:0.0020	ENSG00000055483	20062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0092	.	.	UBP36_HUMAN	USP36	HGNC	K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN	.	UPI00000398BB	SNV	USP36,synonymous_variant,p.%3D,ENST00000449938,;USP36,synonymous_variant,p.%3D,ENST00000542802,;USP36,synonymous_variant,p.%3D,ENST00000312010,;USP36,upstream_gene_variant,,ENST00000592231,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,synonymous_variant,p.%3D,ENST00000589225,;USP36,upstream_gene_variant,,ENST00000587010,;USP36,upstream_gene_variant,,ENST00000591052,;USP36,upstream_gene_variant,,ENST00000587379,;USP36,downstream_gene_variant,,ENST00000588086,;	3435	101	88	SUCCESS
BCL2	596	.	GRCh37	18	60795978	60795978	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	122	0	ENST00000333681.4:c.600A>G	p.Glu200=	p.E200=	ENST00000333681		200	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS11981.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTTCCAC	NONE	.	.	hmmpanther:PTHR11256:SF11,hmmpanther:PTHR11256,TIGRFAM_domain:TIGR00865,Gene3D:1.10.437.10,Superfamily_domains:SSF56854	.	.	ENSP00000381185	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398117	Transcript	.	.	ENSG00000171791	990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL2_HUMAN	BCL2	HGNC	Q96PA0_HUMAN	.	UPI000000D90E	SNV	BCL2,synonymous_variant,p.%3D,ENST00000333681,;BCL2,synonymous_variant,p.%3D,ENST00000398117,;BCL2,non_coding_transcript_exon_variant,,ENST00000590515,;	2062	122	111	SUCCESS
KCTD15	79047	.	GRCh37	19	34303563	34303563	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	27	0	ENST00000430256.3:c.694-132G>A		p.*232*	ENST00000430256				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46039.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGAGCAA	NONE	.	.	.	.	.	ENSP00000394390	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000430256	Transcript	.	.	ENSG00000153885	23297	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCD15_HUMAN	KCTD15	HGNC	K7EQS3_HUMAN,K7EPF0_HUMAN,K7EN63_HUMAN,K7EM48_HUMAN,K7EIF1_HUMAN	.	UPI000004D340	SNV	KCTD15,3_prime_UTR_variant,,ENST00000284006,;KCTD15,intron_variant,,ENST00000588881,;KCTD15,intron_variant,,ENST00000589786,;KCTD15,intron_variant,,ENST00000430256,;KCTD15,downstream_gene_variant,,ENST00000590385,;KCTD15,upstream_gene_variant,,ENST00000592363,;	.	27	33	SUCCESS
ZNF567	163081	.	GRCh37	19	37211090	37211090	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	83	0	ENST00000536254.2:c.1464G>T	p.Met488Ile	p.M488I	ENST00000536254		488	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS12495.1	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATGAAGTC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24404:SF25,hmmpanther:PTHR24404,PROSITE_profiles:PS50157	.	.	ENSP00000467379	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000585696	Transcript	.	.	ENSG00000189042	28696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	tolerated(0.36)	.	ZN567_HUMAN	ZNF567	HGNC	.	.	UPI00001BBFD4	SNV	ZNF567,missense_variant,p.Met457Ile,ENST00000392163,;ZNF567,missense_variant,p.Met457Ile,ENST00000360729,;ZNF567,missense_variant,p.Met488Ile,ENST00000536254,;ZNF567,missense_variant,p.Met457Ile,ENST00000585696,;ZNF567,missense_variant,p.Met457Ile,ENST00000588311,;ZNF567,intron_variant,,ENST00000589264,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000591308,;	2601	83	99	SUCCESS
ZNF576	79177	.	GRCh37	19	44103100	44103100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	72	119	0	ENST00000336564.4:c.203G>A	p.Gly68Glu	p.G68E	ENST00000336564	NM_001145347.1	68	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12625.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGGGTCC	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF72	.	.	ENSP00000337852	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336564	Transcript	.	.	ENSG00000124444	28357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0.02)	.	ZN576_HUMAN	ZNF576	HGNC	.	.	UPI000003602B	SNV	ZNF576,missense_variant,p.Gly68Glu,ENST00000525771,;ZNF576,missense_variant,p.Gly68Glu,ENST00000528387,;ZNF576,missense_variant,p.Gly68Glu,ENST00000391965,;ZNF576,missense_variant,p.Gly68Glu,ENST00000336564,;ZNF576,missense_variant,p.Gly68Glu,ENST00000529930,;ZNF576,missense_variant,p.Gly68Glu,ENST00000533118,;SRRM5,intron_variant,,ENST00000607544,;SRRM5,intron_variant,,ENST00000526798,;IRGQ,upstream_gene_variant,,ENST00000422989,;IRGQ,upstream_gene_variant,,ENST00000602269,;IRGQ,upstream_gene_variant,,ENST00000598324,;ZNF576,downstream_gene_variant,,ENST00000595041,;	357	119	156	SUCCESS
PLEKHA4	57664	.	GRCh37	19	49357343	49357343	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1045015565	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	55	98	0	ENST00000263265.6:c.1097C>T	p.Thr366Met	p.T366M	ENST00000263265	NM_020904.2	366	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS12737.1	1097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGTCTGG	NONE	.	.	hmmpanther:PTHR12752	.	.	ENSP00000263265	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000263265	Transcript	.	.	ENSG00000105559	14339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	PKHA4_HUMAN	PLEKHA4	HGNC	M0R2K5_HUMAN,M0QXJ3_HUMAN	.	UPI00000721A6	SNV	PLEKHA4,missense_variant,p.Thr21Met,ENST00000594195,;PLEKHA4,missense_variant,p.Thr341Met,ENST00000355496,;PLEKHA4,missense_variant,p.Thr366Met,ENST00000263265,;PLEKHA4,splice_region_variant,,ENST00000595867,;PLEKHA4,downstream_gene_variant,,ENST00000596713,;PLEKHA4,upstream_gene_variant,,ENST00000597406,;	1653	98	110	SUCCESS
BRSK1	84446	.	GRCh37	19	55816894	55816894	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	54	169	0	ENST00000309383.1:c.1830C>T	p.Leu610=	p.L610=	ENST00000309383	NM_032430.1	610	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12921.1	1830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTCGTGCT	NONE	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130	.	.	ENSP00000310649	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,synonymous_variant,p.%3D,ENST00000326848,;BRSK1,synonymous_variant,p.%3D,ENST00000309383,;BRSK1,synonymous_variant,p.%3D,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000585418,;BRSK1,downstream_gene_variant,,ENST00000591774,;BRSK1,non_coding_transcript_exon_variant,,ENST00000588584,;BRSK1,downstream_gene_variant,,ENST00000586626,;	2107	169	167	SUCCESS
MUC16	94025	.	GRCh37	19	9020072	9020072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs566860711	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	80	200	0	ENST00000397910.4:c.37423C>T	p.Arg12475Trp	p.R12475W	ENST00000397910	NM_024690.2	12475	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS54212.1	37423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGCTCTC	NONE	byFrequency|byCluster	.	Superfamily_domains:0047452,SMART_domains:SM00200,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	21/84	.	.	.	.	.	.	.	.	rs566860711,COSM1189828	21/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.923)	.	.	0,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Arg12475Trp,ENST00000397910,;	37627	200	222	SUCCESS
NOTCH2	4853	.	GRCh37	1	120458918	120458919	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AA	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	195	46	207	0	ENST00000256646.2:c.6426_6427insTT	p.Glu2143LeufsTer5	p.E2143Lfs*5	ENST00000256646	NM_024408.3	2142	-/TT	0	.	.	.	.	.	AA	-/X	protein_coding	YES	CCDS908.1	6426-6427	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTCAGACA	NONE	.	.	hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,PIRSF_domain:PIRSF002279	.	.	ENSP00000256646	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	insertion	NOTCH2,frameshift_variant,p.Glu2143LeufsTer5,ENST00000256646,;	6646-6647	207	241	SUCCESS
OLFML2B	25903	.	GRCh37	1	161989875	161989875	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	45	116	0	ENST00000294794.3:c.272G>T	p.Arg91Met	p.R91M	ENST00000294794	NM_015441.1	91	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS1236.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCTCTGG	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	.	.	ENSP00000294794	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000294794	Transcript	.	.	ENSG00000162745	24558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	OLM2B_HUMAN	OLFML2B	HGNC	H0YEW8_HUMAN,H0YE85_HUMAN	.	UPI00001D7DE0	SNV	OLFML2B,missense_variant,p.Arg91Met,ENST00000367940,;OLFML2B,missense_variant,p.Arg91Met,ENST00000294794,;	696	116	200	SUCCESS
TAS1R2	80834	.	GRCh37	1	19186095	19186095	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764196926	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	81	171	0	ENST00000375371.3:c.60G>C	p.Glu20Asp	p.E20D	ENST00000375371	NM_152232.2	20	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS187.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCTCAGC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3	.	.	ENSP00000364520	.	1/6	.	.	.	.	.	.	.	.	rs764196926	1/6	PASS	ENST00000375371	Transcript	.	.	ENSG00000179002	14905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	tolerated(0.06)	.	TS1R2_HUMAN	TAS1R2	HGNC	.	.	UPI0000456168	SNV	TAS1R2,missense_variant,p.Glu20Asp,ENST00000375371,;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	82	171	122	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204401382	204401382	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	248	71	165	0	ENST00000367187.3:c.4101C>G	p.Ile1367Met	p.I1367M	ENST00000367187	NM_002646.3	1367	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1446.1	4101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGATTCG	NONE	.	.	PROSITE_profiles:PS50195,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000356155	.	28/34	.	.	.	.	.	.	.	.	COSM1748097	28/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.724)	.	deleterious(0)	1	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,missense_variant,p.Ile1367Met,ENST00000367187,;PIK3C2B,missense_variant,p.Ile1339Met,ENST00000424712,;RP11-739N20.2,intron_variant,,ENST00000443515,;PIK3C2B,non_coding_transcript_exon_variant,,ENST00000462752,;	4658	165	319	SUCCESS
DMBX1	127343	.	GRCh37	1	46976674	46976674	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1300510056	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	116	0	ENST00000371956.4:c.416A>G	p.Gln139Arg	p.Q139R	ENST00000371956	NM_147192.2	139	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS536.1	401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF308	.	.	ENSP00000353132	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000360032	Transcript	.	.	ENSG00000197587	19026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.15)	.	DMBX1_HUMAN	DMBX1	HGNC	.	.	UPI0000070B63	SNV	DMBX1,missense_variant,p.Gln134Arg,ENST00000360032,;DMBX1,missense_variant,p.Gln139Arg,ENST00000371956,;	415	116	107	SUCCESS
SLC24A3	57419	.	GRCh37	20	19698204	19698204	+	synonymous_variant	Silent	SNP	C	C	T	rs753628756	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	90	213	0	ENST00000328041.6:c.1752C>T	p.Ser584=	p.S584=	ENST00000328041	NM_020689.3	584	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS13140.1	1752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCCGTAGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF22,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000333519	.	16/17	.	.	.	.	.	.	.	.	rs753628756,COSM3544488	16/17	PASS	ENST00000328041	Transcript	.	.	ENSG00000185052	10977	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NCKX3_HUMAN	SLC24A3	HGNC	.	.	UPI00001A8BFD	SNV	SLC24A3,synonymous_variant,p.%3D,ENST00000328041,;	1949	213	212	SUCCESS
FAM83C	128876	.	GRCh37	20	33874568	33874568	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138265873	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	58	208	0	ENST00000374408.3:c.2014C>T	p.Arg672Trp	p.R672W	ENST00000374408	NM_178468.5	672	Cgg/Tgg	0	A:0	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS13251.1	2014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCGTTTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3	A:0	A:0.0001	ENSP00000363529	A:0	4/4	.	.	.	.	.	.	.	.	rs138265873,COSM1411392	4/4	PASS	ENST00000374408	Transcript	.	A:0.0002	ENSG00000125998	16121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.064)	A:0.001	tolerated_low_confidence(0.09)	0,1	FA83C_HUMAN	FAM83C	HGNC	.	.	UPI0000072DC0	SNV	FAM83C,missense_variant,p.Arg672Trp,ENST00000374408,;EIF6,upstream_gene_variant,,ENST00000456600,;EIF6,upstream_gene_variant,,ENST00000374436,;EIF6,upstream_gene_variant,,ENST00000374450,;EIF6,upstream_gene_variant,,ENST00000374443,;FAM83C-AS1,downstream_gene_variant,,ENST00000429167,;EIF6,upstream_gene_variant,,ENST00000462894,;EIF6,upstream_gene_variant,,ENST00000447927,;EIF6,upstream_gene_variant,,ENST00000440766,;EIF6,upstream_gene_variant,,ENST00000415116,;	2111	208	192	SUCCESS
HSPA13	6782	.	GRCh37	21	15746539	15746539	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200321727	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	35	0	ENST00000285667.3:c.815A>G	p.Tyr272Cys	p.Y272C	ENST00000285667	NM_006948.4	272	tAt/tGt	0	.	C:0	.	C:0	.	C	Y/C	protein_coding	YES	CCDS13567.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATAGATC	NONE	byCluster|by1000G	.	hmmpanther:PTHR19375:SF169,hmmpanther:PTHR19375,Gene3D:3.90.640.10,Pfam_domain:PF00012,Superfamily_domains:SSF53067	C:0	.	ENSP00000285667	C:0.001	5/5	.	.	.	.	.	.	.	.	rs200321727	5/5	PASS	ENST00000285667	Transcript	.	C:0.0002	ENSG00000155304	11375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	C:0	deleterious(0.03)	.	HSP13_HUMAN	HSPA13	HGNC	F5GWS8_HUMAN	.	UPI00001360C2	SNV	HSPA13,missense_variant,p.Tyr272Cys,ENST00000285667,;HSPA13,missense_variant,p.Tyr64Cys,ENST00000544452,;HSPA13,downstream_gene_variant,,ENST00000478035,;	883	35	35	SUCCESS
PCNT	5116	.	GRCh37	21	47841881	47841881	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	98	0	ENST00000359568.5:c.7025-3T>G		p.X2342_splice	ENST00000359568	NM_006031.5	2342		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33592.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTAGGTG	NONE	.	.	.	.	.	ENSP00000352572	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	LOW	31/46	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,splice_region_variant,,ENST00000359568,;PCNT,splice_region_variant,,ENST00000480896,;RPL18AP2,upstream_gene_variant,,ENST00000450007,;	.	98	92	SUCCESS
CARD10	29775	.	GRCh37	22	37902375	37902375	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	63	188	0	ENST00000251973.5:c.1207G>T	p.Asp403Tyr	p.D403Y	ENST00000251973	NM_014550.3	403	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS13948.1	1207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCACGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF4,Superfamily_domains:SSF57997	.	.	ENSP00000384570	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000403299	Transcript	.	.	ENSG00000100065	16422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CAR10_HUMAN	CARD10	HGNC	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN	.	UPI0000044645	SNV	CARD10,missense_variant,p.Asp44Tyr,ENST00000437756,;CARD10,missense_variant,p.Asp403Tyr,ENST00000251973,;CARD10,missense_variant,p.Asp117Tyr,ENST00000406271,;CARD10,missense_variant,p.Asp403Tyr,ENST00000403299,;CARD10,upstream_gene_variant,,ENST00000433485,;CARD10,downstream_gene_variant,,ENST00000494166,;CARD10,downstream_gene_variant,,ENST00000476871,;	1424	188	205	SUCCESS
LRP1B	53353	.	GRCh37	2	141092035	141092035	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	82	258	0	ENST00000389484.3:c.12210A>G	p.Leu4070=	p.L4070=	ENST00000389484	NM_018557.2	4070	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS2182.1	12210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTAAGTT	NONE	.	.	PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	79/91	.	.	.	.	.	.	.	.	.	79/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,synonymous_variant,p.%3D,ENST00000389484,;LRP1B,synonymous_variant,p.%3D,ENST00000437977,;	13182	258	224	SUCCESS
COL4A4	1286	.	GRCh37	2	227922184	227922184	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199562472	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	53	0	ENST00000396625.3:c.2516C>T	p.Pro839Leu	p.P839L	ENST00000396625	NM_000092.4	839	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42828.1	2516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGGTTGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021	.	.	ENSP00000379866	.	29/48	.	.	.	.	.	.	.	.	rs199562472,COSM3407630	29/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	.	0,1	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Pro839Leu,ENST00000329662,;COL4A4,missense_variant,p.Pro839Leu,ENST00000396625,;	2724	54	69	SUCCESS
CAPN10	11132	.	GRCh37	2	241534647	241534647	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	63	201	0	ENST00000391984.2:c.1204G>T	p.Asp402Tyr	p.D402Y	ENST00000391984	NM_023083.3	402	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS42838.1	1204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGACAGT	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF30,Gene3D:2.60.120.380,Pfam_domain:PF01067,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000375844	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000391984	Transcript	.	.	ENSG00000142330	1477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	tolerated(0.25)	.	CAN10_HUMAN	CAPN10	HGNC	.	.	UPI00001AE96D	SNV	CAPN10,missense_variant,p.Asp402Tyr,ENST00000391982,;CAPN10,missense_variant,p.Asp402Tyr,ENST00000354082,;CAPN10,missense_variant,p.Asp402Tyr,ENST00000404753,;CAPN10,missense_variant,p.Asp402Tyr,ENST00000391984,;CAPN10,intron_variant,,ENST00000270364,;CAPN10,intron_variant,,ENST00000352879,;CAPN10,downstream_gene_variant,,ENST00000432084,;CAPN10,missense_variant,p.Asp402Tyr,ENST00000416591,;CAPN10,missense_variant,p.Asp402Tyr,ENST00000391983,;CAPN10,missense_variant,p.Asp402Tyr,ENST00000357048,;CAPN10,3_prime_UTR_variant,,ENST00000270361,;CAPN10,non_coding_transcript_exon_variant,,ENST00000494738,;CAPN10,non_coding_transcript_exon_variant,,ENST00000483602,;CAPN10,downstream_gene_variant,,ENST00000465943,;CAPN10,upstream_gene_variant,,ENST00000493058,;CAPN10,upstream_gene_variant,,ENST00000426297,;	1400	201	259	SUCCESS
EFEMP1	2202	.	GRCh37	2	56145028	56145028	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	70	195	0	ENST00000355426.3:c.289G>A	p.Ala97Thr	p.A97T	ENST00000355426		97	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1857.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGCCCCTG	NONE	.	.	hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048	.	.	ENSP00000378058	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.46)	.	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Ala97Thr,ENST00000439193,;EFEMP1,missense_variant,p.Ala97Thr,ENST00000440439,;EFEMP1,missense_variant,p.Ala97Thr,ENST00000355426,;EFEMP1,missense_variant,p.Ala97Thr,ENST00000394554,;EFEMP1,missense_variant,p.Ala97Thr,ENST00000438672,;EFEMP1,missense_variant,p.Ala39Thr,ENST00000424836,;EFEMP1,missense_variant,p.Ala97Thr,ENST00000394555,;EFEMP1,downstream_gene_variant,,ENST00000452337,;EFEMP1,downstream_gene_variant,,ENST00000421664,;EFEMP1,downstream_gene_variant,,ENST00000424207,;EFEMP1,downstream_gene_variant,,ENST00000429909,;EFEMP1,non_coding_transcript_exon_variant,,ENST00000452161,;EFEMP1,downstream_gene_variant,,ENST00000497698,;EFEMP1,downstream_gene_variant,,ENST00000480016,;	725	195	177	SUCCESS
KLF15	28999	.	GRCh37	3	126071499	126071499	+	synonymous_variant	Silent	SNP	G	G	A	rs376071138	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	60	0	ENST00000296233.3:c.267C>T	p.Gly89=	p.G89=	ENST00000296233	NM_014079.3	89	ggC/ggT	0	A:0.0005	A:0	.	A:0.0043	.	A	G	protein_coding	YES	CCDS3036.1	267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCCACT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223:SF146,hmmpanther:PTHR23223	A:0	A:0.0002	ENSP00000296233	A:0	2/3	.	.	.	.	.	.	.	.	rs376071138	2/3	common_in_exac	ENST00000296233	Transcript	.	A:0.0006	ENSG00000163884	14536	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	KLF15_HUMAN	KLF15	HGNC	.	.	UPI0000001659	SNV	KLF15,synonymous_variant,p.%3D,ENST00000296233,;KLF15,downstream_gene_variant,,ENST00000509675,;	498	60	122	SUCCESS
RASSF1	11186	.	GRCh37	3	50375613	50375613	+	intron_variant	Intron	SNP	C	C	T	rs587683090	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	18	0	ENST00000357043.2:c.251-159G>A		p.*84*	ENST00000357043				0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS2820.1	.	MUTECT|MUSE	.	CTGGGCGTCTG	NONE	by1000G	.	.	T:0	.	ENSP00000349547	T:0	.	.	.	.	.	.	.	.	.	rs587683090	.	PASS	ENST00000357043	Transcript	.	T:0.0002	ENSG00000068028	9882	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	RASF1_HUMAN	RASSF1	HGNC	Q1W2K8_HUMAN	.	UPI000006FD97	SNV	RASSF1,5_prime_UTR_variant,,ENST00000395126,;RASSF1,intron_variant,,ENST00000357043,;RASSF1,intron_variant,,ENST00000359365,;ZMYND10,downstream_gene_variant,,ENST00000360165,;ZMYND10,downstream_gene_variant,,ENST00000231749,;RASSF1,upstream_gene_variant,,ENST00000327761,;ZMYND10,downstream_gene_variant,,ENST00000442887,;ZMYND10-AS1,upstream_gene_variant,,ENST00000440013,;RASSF1,intron_variant,,ENST00000488024,;ZMYND10,downstream_gene_variant,,ENST00000490675,;RASSF1,non_coding_transcript_exon_variant,,ENST00000494145,;RASSF1,intron_variant,,ENST00000478619,;RASSF1,intron_variant,,ENST00000482447,;RASSF1,intron_variant,,ENST00000395117,;ZMYND10,downstream_gene_variant,,ENST00000443080,;ZMYND10,downstream_gene_variant,,ENST00000475688,;ZMYND10,downstream_gene_variant,,ENST00000478269,;	.	18	8	SUCCESS
PROS1	5627	.	GRCh37	3	93611837	93611837	+	synonymous_variant	Silent	SNP	A	A	G	rs199469491	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	153	339	0	ENST00000394236.3:c.1095T>C	p.Asn365=	p.N365=	ENST00000394236	NM_000313.3	365	aaT/aaC	0	C:0	C:0	.	C:0	.	G	N	protein_coding	YES	CCDS2923.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	TGTTCATTCTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24040,hmmpanther:PTHR24040:SF0,Pfam_domain:PF00054,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	C:0	C:0.0002	ENSP00000377783	C:0.003	10/15	.	.	.	.	.	.	.	.	rs199469491	10/15	PASS	ENST00000394236	Transcript	.	C:0.0006	ENSG00000184500	9456	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	C:0	.	.	PROS_HUMAN	PROS1	HGNC	Q8IXD5_HUMAN,Q8IXD4_HUMAN,Q8IXD2_HUMAN,Q6J1N0_HUMAN,Q06F35_HUMAN,G5E9F8_HUMAN,C9K0R0_HUMAN,B4E1L6_HUMAN	.	UPI00001323E8	SNV	PROS1,synonymous_variant,p.%3D,ENST00000394236,;PROS1,synonymous_variant,p.%3D,ENST00000407433,;	1412	339	375	SUCCESS
LPHN3	0	.	GRCh37	4	62936570	62936570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	82	0	ENST00000514591.1:c.4354G>A	p.Gly1452Arg	p.G1452R	ENST00000514591		1452	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS54768.1	4354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGGGACC	NONE	.	.	Pfam_domain:PF02354	.	.	ENSP00000422533	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious_low_confidence(0.02)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Gly1511Arg,ENST00000507625,;LPHN3,missense_variant,p.Gly1495Arg,ENST00000508946,;LPHN3,missense_variant,p.Gly901Arg,ENST00000502815,;LPHN3,missense_variant,p.Gly1452Arg,ENST00000545650,;LPHN3,missense_variant,p.Gly1563Arg,ENST00000506720,;LPHN3,missense_variant,p.Gly1452Arg,ENST00000514591,;LPHN3,missense_variant,p.Gly1554Arg,ENST00000506746,;LPHN3,missense_variant,p.Gly1486Arg,ENST00000514996,;LPHN3,3_prime_UTR_variant,,ENST00000506700,;LPHN3,3_prime_UTR_variant,,ENST00000509896,;LPHN3,3_prime_UTR_variant,,ENST00000511324,;LPHN3,3_prime_UTR_variant,,ENST00000504896,;LPHN3,3_prime_UTR_variant,,ENST00000508693,;LPHN3,3_prime_UTR_variant,,ENST00000512091,;LPHN3,3_prime_UTR_variant,,ENST00000514157,;LPHN3,3_prime_UTR_variant,,ENST00000507164,;RP11-84A1.3,downstream_gene_variant,,ENST00000504135,;RP11-84A1.3,downstream_gene_variant,,ENST00000509461,;RP11-84A1.3,downstream_gene_variant,,ENST00000506704,;	4683	82	79	SUCCESS
TMEM232	642987	.	GRCh37	5	109940828	109940828	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	5	91	0	ENST00000455884.2:c.1258T>C	p.Ser420Pro	p.S420P	ENST00000455884		420	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS47253.2	1258	MUTECT|MUSE	.	TTTTGAAGAGA	NONE	.	.	.	.	.	ENSP00000401477	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000455884	Transcript	.	.	ENSG00000186952	37270	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	TM232_HUMAN	TMEM232	HGNC	D6REY3_HUMAN,D6RC30_HUMAN	.	UPI00017A7675	SNV	TMEM232,missense_variant,p.Ser420Pro,ENST00000429839,;TMEM232,missense_variant,p.Ser420Pro,ENST00000455884,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515363,;TMEM232,3_prime_UTR_variant,,ENST00000512003,;TMEM232,non_coding_transcript_exon_variant,,ENST00000508571,;	1309	91	105	SUCCESS
KLHL3	26249	.	GRCh37	5	136963985	136963985	+	splice_donor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	92	0	ENST00000309755.4:c.1591+1G>T		p.X531_splice	ENST00000309755	NM_017415.2	531		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4192.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTACCTGCG	NONE	.	.	.	.	.	ENSP00000312397	.	.	.	.	.	.	.	.	.	.	COSM1061152	.	PASS	ENST00000309755	Transcript	1	.	ENSG00000146021	6354	.	.	HIGH	13/14	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KLHL3_HUMAN	KLHL3	HGNC	Q8N4I8_HUMAN,Q49A42_HUMAN	.	UPI000012DE05	SNV	KLHL3,splice_donor_variant,,ENST00000506491,;KLHL3,splice_donor_variant,,ENST00000541417,;KLHL3,splice_donor_variant,,ENST00000309755,;KLHL3,splice_donor_variant,,ENST00000508657,;KLHL3,splice_donor_variant,,ENST00000506873,;KLHL3,splice_donor_variant,,ENST00000447439,;KLHL3,splice_donor_variant,,ENST00000504208,;KLHL3,non_coding_transcript_exon_variant,,ENST00000509694,;	.	92	86	SUCCESS
TENM2	57451	.	GRCh37	5	167689611	167689611	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	58	0	ENST00000518659.1:c.8121C>G	p.Ala2707=	p.A2707=	ENST00000518659	NM_001122679.1	2707	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	.	8121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCCTGGGC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Pfam_domain:PF15636	.	.	ENSP00000429430	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,synonymous_variant,p.%3D,ENST00000545108,;TENM2,synonymous_variant,p.%3D,ENST00000520394,;TENM2,synonymous_variant,p.%3D,ENST00000519204,;TENM2,synonymous_variant,p.%3D,ENST00000518659,;TENM2,synonymous_variant,p.%3D,ENST00000403607,;	8160	58	60	SUCCESS
RASA1	5921	.	GRCh37	5	86665656	86665668	+	frameshift_variant	Frame_Shift_Del	DEL	AGCACTTTAGTGA	AGCACTTTAGTGA	-	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	AGCACTTTAGTGA	AGCACTTTAGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	135	28	206	0	ENST00000274376.6:c.1639_1651del	p.His547AsnfsTer19	p.H547Nfs*19	ENST00000274376	NM_002890.2	546	cAGCACTTTAGTGAa/ca	0	.	.	.	.	.	-	QHFSE/X	protein_coding	YES	CCDS34200.1	1637-1649	INDELOCATOR*|PINDEL	.	TAGTTCAGCACTTTAGTGAAGAAC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10194,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000274376	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	deletion	RASA1,frameshift_variant,p.His380AsnfsTer19,ENST00000512763,;RASA1,frameshift_variant,p.His370AsnfsTer19,ENST00000456692,;RASA1,frameshift_variant,p.His547AsnfsTer19,ENST00000274376,;RASA1,frameshift_variant,p.His381AsnfsTer19,ENST00000506290,;RASA1,3_prime_UTR_variant,,ENST00000515800,;RASA1,non_coding_transcript_exon_variant,,ENST00000509953,;	2201-2213	206	163	SUCCESS
HACE1	57531	.	GRCh37	6	105244550	105244550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	100	0	ENST00000262903.4:c.796G>A	p.Glu266Lys	p.E266K	ENST00000262903	NM_020771.3	266	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5050.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCATTCT	NONE	.	.	hmmpanther:PTHR11254:SF278,hmmpanther:PTHR11254,Gene3D:1.25.40.20	.	.	ENSP00000262903	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000262903	Transcript	.	.	ENSG00000085382	21033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.23)	.	HACE1_HUMAN	HACE1	HGNC	E5RFX0_HUMAN,E3W983_HUMAN	.	UPI00001602DC	SNV	HACE1,missense_variant,p.Glu266Lys,ENST00000369125,;HACE1,missense_variant,p.Glu266Lys,ENST00000262903,;HACE1,downstream_gene_variant,,ENST00000519645,;HACE1,3_prime_UTR_variant,,ENST00000416605,;	1073	100	37	SUCCESS
DSP	1832	.	GRCh37	6	7580098	7580098	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	107	0	ENST00000379802.3:c.3675C>G	p.Ser1225=	p.S1225=	ENST00000379802	NM_004415.2	1225	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4501.1	3675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCCATGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,synonymous_variant,p.%3D,ENST00000379802,;DSP,intron_variant,,ENST00000418664,;	4016	107	82	SUCCESS
ZAN	7455	.	GRCh37	7	100334504	100334504	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	76	0	ENST00000546292.1:c.326T>A	p.Leu109Gln	p.L109Q	ENST00000546292	NM_173059.1	109	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	.	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCTATGGG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	4/46	.	.	.	.	.	.	.	.	.	4/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Leu109Gln,ENST00000546292,;ZAN,missense_variant,p.Leu109Gln,ENST00000542585,;ZAN,missense_variant,p.Leu109Gln,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Leu109Gln,ENST00000421100,;ZAN,missense_variant,p.Leu109Gln,ENST00000349350,;ZAN,missense_variant,p.Leu109Gln,ENST00000427578,;ZAN,missense_variant,p.Leu109Gln,ENST00000348028,;ZAN,missense_variant,p.Leu109Gln,ENST00000449052,;ZAN,missense_variant,p.Leu109Gln,ENST00000443370,;	474	76	88	SUCCESS
ZNF777	27153	.	GRCh37	7	149129992	149129992	+	synonymous_variant	Silent	SNP	G	G	A	rs1446231880	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	57	129	0	ENST00000247930.4:c.1371C>T	p.Asp457=	p.D457=	ENST00000247930	NM_015694.2	457	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS43675.1	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGTCTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402:SF204,hmmpanther:PTHR24402	.	.	ENSP00000247930	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000247930	Transcript	.	.	ENSG00000196453	22213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN777_HUMAN	ZNF777	HGNC	Q3KR11_HUMAN	.	UPI0000E9B152	SNV	ZNF777,synonymous_variant,p.%3D,ENST00000247930,;	1695	129	130	SUCCESS
MATN2	4147	.	GRCh37	8	98943556	98943556	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	66	0	ENST00000254898.5:c.518C>G	p.Pro173Arg	p.P173R	ENST00000254898	NM_002380.3	173	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS55264.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCTCAGG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF17,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000430487	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000520016	Transcript	.	.	ENSG00000132561	6908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MATN2_HUMAN	MATN2	HGNC	E5RJM4_HUMAN	.	UPI000021037B	SNV	MATN2,missense_variant,p.Pro173Arg,ENST00000521689,;MATN2,missense_variant,p.Pro173Arg,ENST00000254898,;MATN2,missense_variant,p.Pro173Arg,ENST00000520016,;MATN2,missense_variant,p.Pro173Arg,ENST00000524308,;MATN2,intron_variant,,ENST00000522025,;MATN2,upstream_gene_variant,,ENST00000518154,;MATN2,upstream_gene_variant,,ENST00000521041,;MATN2,non_coding_transcript_exon_variant,,ENST00000523490,;MATN2,downstream_gene_variant,,ENST00000520160,;	642	66	87	SUCCESS
DMRT2	10655	.	GRCh37	9	1055892	1055892	+	intron_variant	Intron	SNP	G	G	A	rs553542064	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	16	0	ENST00000358146.2:c.629-324G>A		p.*210*	ENST00000358146				0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS6444.1	.	MUTECT|MUSE	.	AATGCGTAGGG	NONE	by1000G	.	.	A:0.001	.	ENSP00000371686	A:0	.	.	.	.	.	.	.	.	.	rs553542064	.	PASS	ENST00000382251	Transcript	.	A:0.0002	ENSG00000173253	2935	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	DMRT2_HUMAN	DMRT2	HGNC	.	.	UPI000013D066	SNV	DMRT2,3_prime_UTR_variant,,ENST00000259622,;DMRT2,intron_variant,,ENST00000302441,;DMRT2,intron_variant,,ENST00000382251,;DMRT2,intron_variant,,ENST00000358146,;DMRT2,intron_variant,,ENST00000382255,;DMRT2,downstream_gene_variant,,ENST00000412350,;	.	16	12	SUCCESS
ZNF462	58499	.	GRCh37	9	109734481	109734481	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1192833694	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	67	199	2	ENST00000277225.5:c.6623G>A	p.Arg2208His	p.R2208H	ENST00000277225		2208	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS35096.1	6623	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGCGTCATT	NONE	.	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,SMART_domains:SM00355	.	.	ENSP00000277225	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,missense_variant,p.Arg2208His,ENST00000277225,;ZNF462,missense_variant,p.Arg165His,ENST00000542028,;ZNF462,missense_variant,p.Arg2268His,ENST00000457913,;ZNF462,missense_variant,p.Arg1114His,ENST00000441147,;ZNF462,missense_variant,p.Arg110His,ENST00000427098,;ZNF462,missense_variant,p.Arg1151His,ENST00000374686,;RP11-508N12.2,downstream_gene_variant,,ENST00000439901,;ZNF462,non_coding_transcript_exon_variant,,ENST00000482115,;ZNF462,non_coding_transcript_exon_variant,,ENST00000479166,;ZNF462,non_coding_transcript_exon_variant,,ENST00000469433,;	6912	201	181	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39118188	39118188	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1348353139	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	402	133	723	0	ENST00000297668.6:c.2149C>T	p.Pro717Ser	p.P717S	ENST00000297668	NM_033655.3	717	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6616.1	2149	RADIA|MUTECT|MUSE	.	ATCAGGCAGAG	NONE	.	.	hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127	.	.	ENSP00000297668	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.244)	.	deleterious(0.01)	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,missense_variant,p.Pro629Ser,ENST00000358144,;CNTNAP3,missense_variant,p.Pro717Ser,ENST00000297668,;CNTNAP3,missense_variant,p.Pro716Ser,ENST00000377656,;CNTNAP3,missense_variant,p.Pro716Ser,ENST00000377659,;CNTNAP3,missense_variant,p.Pro623Ser,ENST00000323947,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000448573,;CNTNAP3,intron_variant,,ENST00000443583,;	2223	723	535	SUCCESS
GPRASP1	9737	.	GRCh37	X	101909698	101909698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	59	68	0	ENST00000361600.5:c.857G>T	p.Arg286Met	p.R286M	ENST00000361600	NM_014710.4	286	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS35352.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTAGGTCTA	NONE	.	.	hmmpanther:PTHR15712:SF22,hmmpanther:PTHR15712	.	.	ENSP00000445683	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000537097	Transcript	.	.	ENSG00000198932	24834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0)	.	GASP1_HUMAN	GPRASP1	HGNC	.	.	UPI0000073B80	SNV	GPRASP1,missense_variant,p.Arg286Met,ENST00000415986,;GPRASP1,missense_variant,p.Arg286Met,ENST00000361600,;GPRASP1,missense_variant,p.Arg286Met,ENST00000537097,;GPRASP1,missense_variant,p.Arg286Met,ENST00000444152,;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000602463,;RP4-769N13.6,intron_variant,,ENST00000602366,;RP4-769N13.6,downstream_gene_variant,,ENST00000466616,;GPRASP1,downstream_gene_variant,,ENST00000466098,;	1670	68	72	SUCCESS
SLITRK2	84631	.	GRCh37	X	144905987	144905987	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	40	53	0	ENST00000370490.1:c.2044G>A	p.Gly682Ser	p.G682S	ENST00000370490		682	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS14680.1	2044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGGCCAT	NONE	.	.	hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	COSM375963,COSM3233353	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.256)	.	tolerated(0.2)	1,1	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Gly682Ser,ENST00000370490,;SLITRK2,missense_variant,p.Gly682Ser,ENST00000434188,;SLITRK2,missense_variant,p.Gly682Ser,ENST00000428560,;SLITRK2,missense_variant,p.Gly682Ser,ENST00000413937,;SLITRK2,missense_variant,p.Gly682Ser,ENST00000447897,;SLITRK2,missense_variant,p.Gly682Ser,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	6299	53	47	SUCCESS
ZNF630	57232	.	GRCh37	X	47919903	47919903	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	19	19	0	ENST00000409324.3:c.164A>G	p.Asp55Gly	p.D55G	ENST00000409324	NM_001037735.2	55	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS35237.2	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACATCTGGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF216,hmmpanther:PTHR24377,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000386393	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000409324	Transcript	.	.	ENSG00000221994	28855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.12)	.	ZN630_HUMAN	ZNF630	HGNC	B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN	.	UPI0000160BE4	SNV	ZNF630,missense_variant,p.Asp55Gly,ENST00000428686,;ZNF630,missense_variant,p.Asp55Gly,ENST00000409324,;ZNF630,missense_variant,p.Asp41Gly,ENST00000442455,;ZNF630,5_prime_UTR_variant,,ENST00000421903,;ZNF630,5_prime_UTR_variant,,ENST00000276054,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,missense_variant,p.Asp55Gly,ENST00000428463,;	391	19	25	SUCCESS
HKDC1	80201	.	GRCh37	10	71025391	71025391	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	66	0	ENST00000354624.5:c.2423T>C	p.Leu808Pro	p.L808P	ENST00000354624	NM_025130.3	808	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS7288.1	2423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGGACA	NONE	.	.	Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12	.	.	ENSP00000346643	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000354624	Transcript	.	.	ENSG00000156510	23302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HKDC1_HUMAN	HKDC1	HGNC	.	.	UPI00003666D2	SNV	HKDC1,missense_variant,p.Leu808Pro,ENST00000354624,;HK1,upstream_gene_variant,,ENST00000448642,;HK1,upstream_gene_variant,,ENST00000450646,;HK1,upstream_gene_variant,,ENST00000360289,;HKDC1,downstream_gene_variant,,ENST00000395086,;RP11-227H15.5,non_coding_transcript_exon_variant,,ENST00000413220,;HKDC1,downstream_gene_variant,,ENST00000470920,;HK1,upstream_gene_variant,,ENST00000483077,;HK1,upstream_gene_variant,,ENST00000480047,;HK1,upstream_gene_variant,,ENST00000479594,;HK1,upstream_gene_variant,,ENST00000476368,;HK1,upstream_gene_variant,,ENST00000464803,;	2556	66	74	SUCCESS
KCNMA1	3778	.	GRCh37	10	78669796	78669796	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	58	0	ENST00000286628.8:c.3075A>G	p.Glu1025=	p.E1025=	ENST00000286628	NM_001161352.1	1025	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS53545.1	3024	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTTCTGT	NONE	.	.	hmmpanther:PTHR10027:SF18,hmmpanther:PTHR10027,Prints_domain:PR01449	.	.	ENSP00000385806	.	25/28	.	.	.	.	.	.	.	.	COSM128291	25/28	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,synonymous_variant,p.%3D,ENST00000404857,;KCNMA1,synonymous_variant,p.%3D,ENST00000406533,;KCNMA1,synonymous_variant,p.%3D,ENST00000372408,;KCNMA1,synonymous_variant,p.%3D,ENST00000372403,;KCNMA1,synonymous_variant,p.%3D,ENST00000372440,;KCNMA1,synonymous_variant,p.%3D,ENST00000286628,;KCNMA1,synonymous_variant,p.%3D,ENST00000604624,;KCNMA1,synonymous_variant,p.%3D,ENST00000372437,;KCNMA1,synonymous_variant,p.%3D,ENST00000354353,;KCNMA1,synonymous_variant,p.%3D,ENST00000457953,;KCNMA1,synonymous_variant,p.%3D,ENST00000372443,;KCNMA1,synonymous_variant,p.%3D,ENST00000286627,;KCNMA1,synonymous_variant,p.%3D,ENST00000434208,;KCNMA1,synonymous_variant,p.%3D,ENST00000404771,;KCNMA1,synonymous_variant,p.%3D,ENST00000372421,;RP11-443A13.5,intron_variant,,ENST00000426234,;RP11-443A13.5,intron_variant,,ENST00000600782,;RP11-443A13.5,intron_variant,,ENST00000458661,;RP11-443A13.5,downstream_gene_variant,,ENST00000429850,;	3024	58	33	SUCCESS
OPN4	94233	.	GRCh37	10	88421086	88421087	+	frameshift_variant	Frame_Shift_Del	DEL	CG	CG	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	CG	CG	.	.	.	.	.	.	.	.	.	.	.	.	.	82	38	85	0	ENST00000241891.5:c.1014_1015delinsT	p.Ala339ProfsTer55	p.A339Pfs*55	ENST00000241891	NM_033282.3	338	atCGcc/atTcc	0	.	.	.	.	.	T	IA/IX	protein_coding	YES	CCDS31237.1	1047-1048	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CGTCATCGCCAAG	NONE	.	.	Prints_domain:PR00237,Prints_domain:PR00238,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00238,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72,PROSITE_profiles:PS50262	.	.	ENSP00000361141	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000372071	Transcript	.	.	ENSG00000122375	14449	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPN4_HUMAN	OPN4	HGNC	.	.	UPI00001544ED	substitution	OPN4,frameshift_variant,p.Ala339ProfsTer55,ENST00000241891,;OPN4,frameshift_variant,p.Ala350ProfsTer55,ENST00000372071,;OPN4,frameshift_variant,p.Ala350ProfsTer55,ENST00000443292,;	1274-1275	85	120	SUCCESS
ATM	472	.	GRCh37	11	108138031	108138031	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	28	111	0	ENST00000278616.4:c.2600G>C	p.Ser867Thr	p.S867T	ENST00000278616	NM_000051.3	867	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS31669.1	2600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTAGTGATG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	17/63	.	.	.	.	.	.	.	.	.	17/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.09)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Ser867Thr,ENST00000278616,;ATM,missense_variant,p.Ser867Thr,ENST00000527805,;ATM,missense_variant,p.Ser867Thr,ENST00000452508,;AP001925.1,upstream_gene_variant,,ENST00000596081,;ATM,upstream_gene_variant,,ENST00000419286,;	2985	111	60	SUCCESS
MS4A14	84689	.	GRCh37	11	60184403	60184403	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	91	0	ENST00000300187.6:c.1962G>A	p.Trp654Ter	p.W654*	ENST00000300187	NM_032597.4	654	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS58136.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGCAATT	NONE	.	.	.	.	.	ENSP00000433761	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000531783	Transcript	.	.	ENSG00000166928	30706	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MS4A14	HGNC	E9PJE3_HUMAN	.	UPI0001F77AC2	SNV	MS4A14,stop_gained,p.Trp637Ter,ENST00000395005,;MS4A14,stop_gained,p.Trp687Ter,ENST00000531783,;MS4A14,stop_gained,p.Trp542Ter,ENST00000531787,;MS4A14,stop_gained,p.Trp654Ter,ENST00000300187,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;	2152	91	80	SUCCESS
TMEM132A	54972	.	GRCh37	11	60701185	60701185	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	32	57	0	ENST00000453848.2:c.1528C>T	p.Arg510Cys	p.R510C	ENST00000453848		510	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7997.1	1531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCGCGGC	NONE	.	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388	.	.	ENSP00000005286	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,missense_variant,p.Arg102Cys,ENST00000536409,;TMEM132A,missense_variant,p.Arg511Cys,ENST00000005286,;TMEM132A,missense_variant,p.Arg510Cys,ENST00000453848,;TMEM132A,downstream_gene_variant,,ENST00000544065,;SLC15A3,downstream_gene_variant,,ENST00000227880,;SLC15A3,downstream_gene_variant,,ENST00000537307,;SLC15A3,downstream_gene_variant,,ENST00000536784,;TMEM132A,upstream_gene_variant,,ENST00000535480,;TMEM132A,upstream_gene_variant,,ENST00000540112,;TMEM132A,intron_variant,,ENST00000539899,;TMEM132A,upstream_gene_variant,,ENST00000536928,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;TMEM132A,upstream_gene_variant,,ENST00000538090,;SLC15A3,downstream_gene_variant,,ENST00000544101,;SLC15A3,downstream_gene_variant,,ENST00000543406,;SLC15A3,downstream_gene_variant,,ENST00000541505,;	1684	57	61	SUCCESS
SF1	7536	.	GRCh37	11	64534515	64534515	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766563165	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	52	0	ENST00000377390.3:c.1439C>T	p.Pro480Leu	p.P480L	ENST00000377390	NM_004630.3	480	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS53661.1	1814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGCGGC	BUFFER|p.P485delP|c.1449_1451delGCC|3,BUFFER|p.P485delP|c.1449_1451delGCC|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45	.	.	ENSP00000366604	.	12/13	.	.	.	.	.	.	.	.	rs766563165	12/13	PASS	ENST00000377387	Transcript	.	.	ENSG00000168066	12950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.23)	.	SF01_HUMAN	SF1	HGNC	Q14821_HUMAN,C9J792_HUMAN,B4DX42_HUMAN	.	UPI0000074300	SNV	SF1,missense_variant,p.Pro480Leu,ENST00000227503,;SF1,missense_variant,p.Pro132Leu,ENST00000443908,;SF1,missense_variant,p.Pro480Leu,ENST00000377390,;SF1,missense_variant,p.Pro365Leu,ENST00000422298,;SF1,missense_variant,p.Pro480Leu,ENST00000334944,;SF1,missense_variant,p.Pro605Leu,ENST00000377387,;SF1,missense_variant,p.Pro454Leu,ENST00000433274,;SF1,synonymous_variant,p.%3D,ENST00000486867,;SF1,synonymous_variant,p.%3D,ENST00000377394,;SF1,synonymous_variant,p.%3D,ENST00000413725,;SF1,downstream_gene_variant,,ENST00000432725,;SF1,downstream_gene_variant,,ENST00000489544,;SF1,downstream_gene_variant,,ENST00000496969,;SF1,3_prime_UTR_variant,,ENST00000448404,;SF1,non_coding_transcript_exon_variant,,ENST00000477596,;SF1,downstream_gene_variant,,ENST00000486960,;SF1,downstream_gene_variant,,ENST00000413951,;	1891	52	67	SUCCESS
SPTBN2	6712	.	GRCh37	11	66472881	66472881	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	66	84	0	ENST00000309996.2:c.1866C>G	p.Ser622Arg	p.S622R	ENST00000309996	NM_006946.2	622	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS8150.1	1866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAGCTCTG	NONE	.	.	Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	15/38	.	.	.	.	.	.	.	.	.	15/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.17)	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Ser622Arg,ENST00000533211,;SPTBN2,missense_variant,p.Ser622Arg,ENST00000309996,;SPTBN2,missense_variant,p.Ser622Arg,ENST00000529997,;	2198	84	104	SUCCESS
OR10A7	121364	.	GRCh37	12	55614885	55614885	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	73	236	1	ENST00000326258.1:c.77C>A	p.Ser26Tyr	p.S26Y	ENST00000326258	NM_001005280.1	26	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS31815.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCCCTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF22,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326718	.	1/1	.	.	.	.	.	.	.	.	COSM3462961	1/1	PASS	ENST00000326258	Transcript	.	.	ENSG00000179919	15329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.032)	.	tolerated(0.12)	1	O10A7_HUMAN	OR10A7	HGNC	.	.	UPI0000041E35	SNV	OR10A7,missense_variant,p.Ser26Tyr,ENST00000326258,;	77	237	158	SUCCESS
CNOT2	4848	.	GRCh37	12	70724192	70724192	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	63	177	0	ENST00000229195.3:c.512C>A	p.Pro171Gln	p.P171Q	ENST00000229195	NM_014515.5	171	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS31857.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCCAAGCA	BUFFER|p.S170S|c.510G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23326	.	.	ENSP00000229195	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000229195	Transcript	.	.	ENSG00000111596	7878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,missense_variant,p.Pro171Gln,ENST00000551043,;CNOT2,missense_variant,p.Pro171Gln,ENST00000552231,;CNOT2,missense_variant,p.Pro171Gln,ENST00000229195,;CNOT2,missense_variant,p.Pro171Gln,ENST00000550194,;CNOT2,missense_variant,p.Pro86Gln,ENST00000551873,;CNOT2,missense_variant,p.Pro171Gln,ENST00000418359,;CNOT2,missense_variant,p.Pro151Gln,ENST00000550641,;CNOT2,missense_variant,p.Pro162Gln,ENST00000548159,;CNOT2,missense_variant,p.Pro171Gln,ENST00000549750,;CNOT2,intron_variant,,ENST00000552483,;CNOT2,intron_variant,,ENST00000550160,;CNOT2,intron_variant,,ENST00000552915,;CNOT2,downstream_gene_variant,,ENST00000551132,;CNOT2,upstream_gene_variant,,ENST00000551483,;CNOT2,upstream_gene_variant,,ENST00000550155,;CNOT2,non_coding_transcript_exon_variant,,ENST00000547149,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548230,;CNOT2,intron_variant,,ENST00000549443,;CNOT2,3_prime_UTR_variant,,ENST00000552319,;CNOT2,non_coding_transcript_exon_variant,,ENST00000552151,;CNOT2,intron_variant,,ENST00000548599,;CNOT2,intron_variant,,ENST00000548021,;CNOT2,intron_variant,,ENST00000548863,;CNOT2,downstream_gene_variant,,ENST00000547321,;	1091	177	116	SUCCESS
NBEA	26960	.	GRCh37	13	35758164	35758164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	65	135	0	ENST00000400445.3:c.4883C>A	p.Ala1628Asp	p.A1628D	ENST00000400445	NM_015678.4	1628	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS45026.1	4883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCAAGT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	30/58	.	.	.	.	.	.	.	.	.	30/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.17)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Ala1628Asp,ENST00000400445,;NBEA,missense_variant,p.Ala1628Asp,ENST00000540320,;NBEA,missense_variant,p.Ala1628Asp,ENST00000310336,;NBEA,missense_variant,p.Ala1625Asp,ENST00000379939,;SCAND3P1,upstream_gene_variant,,ENST00000439854,;	5417	135	114	SUCCESS
FHP1	100873790	.	GRCh37	13	42830522	42830522	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs11545657	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	9	123	1	ENST00000442741.1:n.514G>A		p.*172*	ENST00000442741				0	.	.	.	.	.	A	.	processed_pseudogene	YES	.	.	MUTECT|MUSE|VARSCANS	.	TCCTCGTATAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000442741	Transcript	.	.	ENSG00000234213	39442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FHP1	HGNC	.	.	.	SNV	DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;FHP1,non_coding_transcript_exon_variant,,ENST00000442741,;	514	125	119	SUCCESS
ZBTB1	22890	.	GRCh37	14	64989571	64989571	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	40	83	0	ENST00000554015.1:c.1349G>T	p.Cys450Phe	p.C450F	ENST00000554015		450	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS45126.1	1349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGTGGTA	NONE	.	.	hmmpanther:PTHR11389:SF326,hmmpanther:PTHR11389	.	.	ENSP00000378201	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394712	Transcript	.	.	ENSG00000126804	20259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.593)	.	deleterious(0.01)	.	ZBTB1_HUMAN	ZBTB1	HGNC	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN	.	UPI00001FD6B2	SNV	ZBTB1,missense_variant,p.Cys450Phe,ENST00000394712,;ZBTB1,missense_variant,p.Cys450Phe,ENST00000554015,;ZBTB1,missense_variant,p.Cys450Phe,ENST00000358738,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;	1740	83	55	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72205030	72205030	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	28	0	ENST00000555818.1:c.5259A>G	p.Glu1753=	p.E1753=	ENST00000555818	NM_015556.1	1753	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS9807.1	5259	RADIA|MUSE	.	CGGGAAGATTT	NONE	.	.	hmmpanther:PTHR15711:SF10,hmmpanther:PTHR15711,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000450832	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,synonymous_variant,p.%3D,ENST00000537413,;SIPA1L1,synonymous_variant,p.%3D,ENST00000358550,;SIPA1L1,synonymous_variant,p.%3D,ENST00000381232,;SIPA1L1,synonymous_variant,p.%3D,ENST00000555818,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;SIPA1L1,downstream_gene_variant,,ENST00000556959,;	5607	28	24	SUCCESS
CCDC88C	440193	.	GRCh37	14	91770230	91770230	+	synonymous_variant	Silent	SNP	G	G	A	rs935425414	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	91	0	ENST00000389857.6:c.3450C>T	p.Asn1150=	p.N1150=	ENST00000389857	NM_001080414.3	1150	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS45151.1	3450	MUTECT|MUSE	.	CTTTCGTTCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31	.	.	ENSP00000374507	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,synonymous_variant,p.%3D,ENST00000389857,;	3537	91	67	SUCCESS
SLC24A4	123041	.	GRCh37	14	92790275	92790275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	72	0	ENST00000532405.1:c.101G>A	p.Cys34Tyr	p.C34Y	ENST00000532405		34	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS9903.2	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTGCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF21	.	.	ENSP00000431840	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000532405	Transcript	1	.	ENSG00000140090	10978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.16)	.	NCKX4_HUMAN	SLC24A4	HGNC	G3V505_HUMAN,B4DHR5_HUMAN	.	UPI000044C5DE	SNV	SLC24A4,missense_variant,p.Cys34Tyr,ENST00000531433,;SLC24A4,missense_variant,p.Cys17Tyr,ENST00000351924,;SLC24A4,missense_variant,p.Cys17Tyr,ENST00000298877,;SLC24A4,missense_variant,p.Cys34Tyr,ENST00000532405,;SLC24A4,intron_variant,,ENST00000393265,;	327	72	77	SUCCESS
EHD4	30844	.	GRCh37	15	42245961	42245961	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs1323636708	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	34	68	0	ENST00000220325.4:c.413+1G>T		p.X138_splice	ENST00000220325	NM_139265.3	138		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10081.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTACCGATT	NONE	.	.	.	.	.	ENSP00000220325	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000220325	Transcript	.	.	ENSG00000103966	3245	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHD4_HUMAN	EHD4	HGNC	.	.	UPI0000129E25	SNV	EHD4,splice_donor_variant,,ENST00000220325,;EHD4,splice_donor_variant,,ENST00000569223,;	.	68	61	SUCCESS
FAM81A	145773	.	GRCh37	15	59801108	59801108	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	364	132	527	0	ENST00000288228.5:c.590G>A	p.Ser197Asn	p.S197N	ENST00000288228	NM_152450.2	197	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS45269.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGCACCA	NONE	.	.	hmmpanther:PTHR22420:SF2,hmmpanther:PTHR22420	.	.	ENSP00000288228	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000288228	Transcript	.	.	ENSG00000157470	28379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated(0.64)	.	FA81A_HUMAN	FAM81A	HGNC	H0YN94_HUMAN,H0YN47_HUMAN,H0YMX7_HUMAN,H0YMW3_HUMAN,H0YMF2_HUMAN,H0YKW2_HUMAN,H0YKQ6_HUMAN	.	UPI000015DCFD	SNV	FAM81A,missense_variant,p.Ser197Asn,ENST00000288228,;	777	527	497	SUCCESS
CHD2	1106	.	GRCh37	15	93489406	93489406	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs768845613	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	63	256	0	ENST00000394196.4:c.1337G>C	p.Ser446Thr	p.S446T	ENST00000394196	NM_001271.3	446	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS10374.2	1337	RADIA|MUTECT|MUSE	.	CCACAGTAGGA	NONE	.	.	PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF52540,Superfamily_domains:SSF54160	.	.	ENSP00000377747	.	12/39	.	.	.	.	.	.	.	.	rs768845613	12/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.013)	.	tolerated(0.27)	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Ser446Thr,ENST00000557381,;CHD2,missense_variant,p.Ser446Thr,ENST00000420239,;CHD2,missense_variant,p.Ser459Thr,ENST00000536619,;CHD2,missense_variant,p.Ser446Thr,ENST00000394196,;CHD2,downstream_gene_variant,,ENST00000555753,;CHD2,upstream_gene_variant,,ENST00000555582,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000309818,;CHD2,downstream_gene_variant,,ENST00000556270,;CHD2,downstream_gene_variant,,ENST00000553323,;	2405	256	170	SUCCESS
CHD2	1106	.	GRCh37	15	93489423	93489423	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	69	268	0	ENST00000394196.4:c.1354A>G	p.Thr452Ala	p.T452A	ENST00000394196	NM_001271.3	452	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10374.2	1354	RADIA|MUTECT|MUSE	.	CAAAAACCATC	NONE	.	.	PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Gene3D:2.40.50.40,Superfamily_domains:SSF52540	.	.	ENSP00000377747	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.228)	.	tolerated(0.17)	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Thr452Ala,ENST00000557381,;CHD2,missense_variant,p.Thr452Ala,ENST00000420239,;CHD2,missense_variant,p.Thr465Ala,ENST00000536619,;CHD2,missense_variant,p.Thr452Ala,ENST00000394196,;CHD2,downstream_gene_variant,,ENST00000555753,;CHD2,upstream_gene_variant,,ENST00000555582,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000309818,;CHD2,downstream_gene_variant,,ENST00000556270,;CHD2,downstream_gene_variant,,ENST00000553323,;	2422	268	179	SUCCESS
ZFP1	162239	.	GRCh37	16	75204019	75204019	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	28	0	ENST00000393430.2:c.1011A>G	p.Ser337=	p.S337=	ENST00000393430		337	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS10914.2	1011	RADIA|MUTECT|MUSE|VARSCANS	.	AACTCACAGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF248,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000377080	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000393430	Transcript	.	.	ENSG00000184517	23328	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZFP1_HUMAN	ZFP1	HGNC	Q29RW8_HUMAN,J3KNQ1_HUMAN	.	UPI00001FFC12	SNV	ZFP1,synonymous_variant,p.%3D,ENST00000332307,;ZFP1,synonymous_variant,p.%3D,ENST00000393430,;ZFP1,synonymous_variant,p.%3D,ENST00000570010,;ZFP1,3_prime_UTR_variant,,ENST00000464850,;ZFP1,3_prime_UTR_variant,,ENST00000568079,;ZFP1,downstream_gene_variant,,ENST00000567481,;ZFP1,downstream_gene_variant,,ENST00000563356,;	1135	28	15	SUCCESS
WNT9B	7484	.	GRCh37	17	44953863	44953863	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	70	131	0	ENST00000290015.2:c.853G>T	p.Glu285Ter	p.E285*	ENST00000290015	NM_003396.1	285	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11506.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGAGGAC	NONE	.	.	hmmpanther:PTHR12027:SF84,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000290015	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290015	Transcript	.	.	ENSG00000158955	12779	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT9B_HUMAN	WNT9B	HGNC	.	.	UPI000013DFB5	SNV	WNT9B,stop_gained,p.Glu285Ter,ENST00000393461,;WNT9B,stop_gained,p.Glu285Ter,ENST00000290015,;WNT9B,downstream_gene_variant,,ENST00000575372,;	906	131	126	SUCCESS
KAT7	11143	.	GRCh37	17	47874270	47874270	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	91	134	0	ENST00000259021.4:c.322G>T	p.Val108Phe	p.V108F	ENST00000259021	NM_007067.4	108	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS11554.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGTTGAT	NONE	.	.	hmmpanther:PTHR10615	.	.	ENSP00000259021	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000259021	Transcript	.	.	ENSG00000136504	17016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated_low_confidence(0.29)	.	KAT7_HUMAN	KAT7	HGNC	G3V125_HUMAN,B4DJ40_HUMAN,B4DGH8_HUMAN	.	UPI000006D3D5	SNV	KAT7,missense_variant,p.Val108Phe,ENST00000259021,;KAT7,missense_variant,p.Val108Phe,ENST00000509773,;KAT7,missense_variant,p.Val108Phe,ENST00000424009,;KAT7,5_prime_UTR_variant,,ENST00000506533,;KAT7,5_prime_UTR_variant,,ENST00000435742,;KAT7,5_prime_UTR_variant,,ENST00000503935,;KAT7,intron_variant,,ENST00000510819,;KAT7,intron_variant,,ENST00000454930,;KAT7,non_coding_transcript_exon_variant,,ENST00000509124,;RP11-613C6.4,downstream_gene_variant,,ENST00000513669,;	602	134	110	SUCCESS
BZRAP1	0	.	GRCh37	17	56388536	56388536	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	78	92	0	ENST00000343736.4:c.3120G>T	p.Leu1040=	p.L1040=	ENST00000343736		1040	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11605.1	3120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCAGTAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000345824	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,synonymous_variant,p.%3D,ENST00000343736,;BZRAP1,synonymous_variant,p.%3D,ENST00000355701,;BZRAP1,synonymous_variant,p.%3D,ENST00000268893,;BZRAP1,upstream_gene_variant,,ENST00000581675,;BZRAP1,upstream_gene_variant,,ENST00000582679,;BZRAP1,upstream_gene_variant,,ENST00000580669,;BZRAP1,upstream_gene_variant,,ENST00000577871,;BZRAP1,upstream_gene_variant,,ENST00000578511,;BZRAP1,upstream_gene_variant,,ENST00000578486,;BZRAP1,downstream_gene_variant,,ENST00000585149,;	3284	92	105	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	79	166	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	166	107	SUCCESS
DNAH17	8632	.	GRCh37	17	76503588	76503588	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1417358952	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	26	114	0	ENST00000389840.5:c.4524G>C	p.Gln1508His	p.Q1508H	ENST00000389840		1508	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	.	4524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCTGGGT	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374490	.	28/81	.	.	.	.	.	.	.	.	.	28/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Gln1509His,ENST00000585328,;DNAH17,missense_variant,p.Gln1508His,ENST00000389840,;DNAH17-AS1,downstream_gene_variant,,ENST00000598378,;DNAH17,non_coding_transcript_exon_variant,,ENST00000587177,;	4649	114	139	SUCCESS
DSG1	1828	.	GRCh37	18	28923773	28923773	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	15	0	ENST00000257192.4:c.1822-116A>G		p.*608*	ENST00000257192	NM_001942.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11896.1	.	RADIA|MUTECT|MUSE	.	CCTAAATAGTA	NONE	.	.	.	.	.	ENSP00000257192	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257192	Transcript	.	.	ENSG00000134760	3048	.	.	MODIFIER	12/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DSG1_HUMAN	DSG1	HGNC	B7Z845_HUMAN	.	UPI000013CF4C	SNV	DSG1,5_prime_UTR_variant,,ENST00000462981,;DSG1,intron_variant,,ENST00000257192,;RNU6-167P,downstream_gene_variant,,ENST00000384292,;RP11-534N16.1,intron_variant,,ENST00000578119,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,downstream_gene_variant,,ENST00000578477,;	.	15	11	SUCCESS
KRI1	65095	.	GRCh37	19	10671691	10671691	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	23	84	0	ENST00000312962.6:c.669C>G	p.Ser223=	p.S223=	ENST00000312962	NM_023008.3	223	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS12242.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGGAATC	NONE	.	.	hmmpanther:PTHR14490	.	.	ENSP00000320917	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000312962	Transcript	.	.	ENSG00000129347	25769	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRI1_HUMAN	KRI1	HGNC	.	.	UPI0000246DCC	SNV	KRI1,synonymous_variant,p.%3D,ENST00000312962,;KRI1,synonymous_variant,p.%3D,ENST00000361821,;KRI1,synonymous_variant,p.%3D,ENST00000543682,;KRI1,intron_variant,,ENST00000539027,;KRI1,non_coding_transcript_exon_variant,,ENST00000537964,;KRI1,3_prime_UTR_variant,,ENST00000546063,;KRI1,3_prime_UTR_variant,,ENST00000432197,;KRI1,non_coding_transcript_exon_variant,,ENST00000536689,;KRI1,non_coding_transcript_exon_variant,,ENST00000478863,;KRI1,downstream_gene_variant,,ENST00000544397,;KRI1,upstream_gene_variant,,ENST00000543842,;KRI1,upstream_gene_variant,,ENST00000537433,;KRI1,upstream_gene_variant,,ENST00000537363,;KRI1,upstream_gene_variant,,ENST00000536714,;	689	84	101	SUCCESS
ZNF208	7757	.	GRCh37	19	22155053	22155053	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373937489	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	94	0	ENST00000397126.4:c.2783G>T	p.Trp928Leu	p.W928L	ENST00000397126	NM_007153.3	928	tGg/tTg	0	T:0.0002	.	.	.	.	A	W/L	protein_coding	YES	CCDS54240.1	2783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACCAGCTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	T:0	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	rs373937489	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.45)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Trp928Leu,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	2932	94	59	SUCCESS
LGI4	163175	.	GRCh37	19	35622722	35622722	+	synonymous_variant	Silent	SNP	C	C	T	rs191436645	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	67	171	0	ENST00000310123.3:c.429G>A	p.Leu143=	p.L143=	ENST00000310123	NM_139284.2	143	ctG/ctA	0	T:0	T:0.0015	.	T:0	.	T	L	protein_coding	YES	CCDS12444.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAACAGGAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF258,hmmpanther:PTHR24367,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	T:0	T:0.0001	ENSP00000312273	T:0	5/9	.	.	.	.	.	.	.	.	rs191436645	5/9	PASS	ENST00000310123	Transcript	.	T:0.0004	ENSG00000153902	18712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LGI4_HUMAN	LGI4	HGNC	.	.	UPI000004C5DE	SNV	LGI4,synonymous_variant,p.%3D,ENST00000310123,;LGI4,synonymous_variant,p.%3D,ENST00000591633,;LGI4,synonymous_variant,p.%3D,ENST00000392225,;LGI4,synonymous_variant,p.%3D,ENST00000587780,;LGI4,non_coding_transcript_exon_variant,,ENST00000592346,;LGI4,non_coding_transcript_exon_variant,,ENST00000493050,;LGI4,non_coding_transcript_exon_variant,,ENST00000591840,;LGI4,non_coding_transcript_exon_variant,,ENST00000473160,;LGI4,non_coding_transcript_exon_variant,,ENST00000593248,;	949	172	129	SUCCESS
WDR87	83889	.	GRCh37	19	38383676	38383676	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	6	111	0	ENST00000303868.5:c.2550G>C	p.Met850Ile	p.M850I	ENST00000303868	NM_031951.3	850	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS46063.1	2550	MUTECT|MUSE	.	AGTCTCATTTC	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Met889Ile,ENST00000447313,;WDR87,missense_variant,p.Met850Ile,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	2775	111	115	SUCCESS
CCDC8	83987	.	GRCh37	19	46915065	46915065	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	177	0	ENST00000307522.3:c.1003C>G	p.Gln335Glu	p.Q335E	ENST00000307522	NM_032040.4	335	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS12685.1	1003	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGATTAT	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,missense_variant,p.Gln335Glu,ENST00000307522,;	1777	177	137	SUCCESS
PRKD2	25865	.	GRCh37	19	47207810	47207810	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	93	0	ENST00000291281.4:c.608G>C	p.Ser203Thr	p.S203T	ENST00000291281		203	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS12689.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACTGGCC	NONE	.	.	PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968	.	.	ENSP00000393978	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.58)	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,missense_variant,p.Ser203Thr,ENST00000595515,;PRKD2,missense_variant,p.Ser46Thr,ENST00000600194,;PRKD2,missense_variant,p.Ser46Thr,ENST00000601806,;PRKD2,missense_variant,p.Ser203Thr,ENST00000433867,;PRKD2,missense_variant,p.Ser203Thr,ENST00000291281,;PRKD2,missense_variant,p.Ser46Thr,ENST00000595132,;PRKD2,intron_variant,,ENST00000601605,;PRKD2,downstream_gene_variant,,ENST00000598633,;MIR320E,downstream_gene_variant,,ENST00000390179,;PRKD2,3_prime_UTR_variant,,ENST00000597641,;	1086	93	92	SUCCESS
C5AR2	27202	.	GRCh37	19	47844736	47844736	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	26	0	ENST00000595464.1:c.680C>A	p.Ala227Glu	p.A227E	ENST00000595464	NM_001271749.1	227	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS12699.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCAGCCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF1,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000472620	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000595464	Transcript	.	.	ENSG00000134830	4527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.13)	.	C5AR2_HUMAN	C5AR2	HGNC	.	.	UPI000003BCC8	SNV	C5AR2,missense_variant,p.Ala227Glu,ENST00000257267,;C5AR2,missense_variant,p.Ala227Glu,ENST00000600626,;C5AR2,missense_variant,p.Ala227Glu,ENST00000595464,;	898	26	36	SUCCESS
ZNF749	388567	.	GRCh37	19	57954874	57954874	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	7	131	0	ENST00000334181.4:c.358C>A	p.Leu120Met	p.L120M	ENST00000334181	NM_001023561.2	120	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS33132.2	358	MUTECT|MUSE	.	ATGACCTGCAC	NONE	.	.	hmmpanther:PTHR24381:SF5,hmmpanther:PTHR24381	.	.	ENSP00000333980	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334181	Transcript	.	.	ENSG00000186230	32783	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.86)	.	tolerated(0.16)	.	ZN749_HUMAN	ZNF749	HGNC	C9J756_HUMAN	.	UPI0000237933	SNV	ZNF749,missense_variant,p.Leu120Met,ENST00000334181,;ZNF749,missense_variant,p.Leu33Met,ENST00000415248,;AC004076.9,intron_variant,,ENST00000596831,;	608	131	133	SUCCESS
VAV3	10451	.	GRCh37	1	108292166	108292166	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	100	0	ENST00000370056.4:c.1310A>T	p.Asp437Val	p.D437V	ENST00000370056	NM_006113.4	437	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS785.1	1310	MUTECT|MUSE	.	AGTTATCACCT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000359073	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Asp372Val,ENST00000371846,;VAV3,missense_variant,p.Asp432Val,ENST00000490388,;VAV3,missense_variant,p.Asp437Val,ENST00000370056,;VAV3,missense_variant,p.Asp437Val,ENST00000527011,;VAV3,upstream_gene_variant,,ENST00000529809,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;	1585	100	49	SUCCESS
VPS13D	55187	.	GRCh37	1	12403094	12403094	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	53	0	ENST00000358136.3:c.8871A>G	p.Gly2957=	p.G2957=	ENST00000358136	NM_015378.2	2957	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS30588.1	8871	MUTECT|MUSE	.	AGAGGAAAGTT	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	42/70	.	.	.	.	.	.	.	.	.	42/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,synonymous_variant,p.%3D,ENST00000358136,;VPS13D,synonymous_variant,p.%3D,ENST00000011700,;VPS13D,synonymous_variant,p.%3D,ENST00000356315,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,upstream_gene_variant,,ENST00000469054,;	9001	53	55	SUCCESS
GJA5	2702	.	GRCh37	1	147230516	147230516	+	synonymous_variant	Silent	SNP	T	T	C	rs782480939	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	67	164	0	ENST00000271348.2:c.831A>G	p.Gly277=	p.G277=	ENST00000271348	NM_005266.6	277	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS929.1	831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTTCCCCC	NONE	byFrequency	.	hmmpanther:PTHR11984:SF13,hmmpanther:PTHR11984,Superfamily_domains:0049114	.	.	ENSP00000271348	.	2/2	.	.	.	.	.	.	.	.	rs782480939	2/2	PASS	ENST00000271348	Transcript	.	.	ENSG00000143140	4279	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA5_HUMAN	GJA5	HGNC	.	.	UPI000013D8D2	SNV	GJA5,synonymous_variant,p.%3D,ENST00000271348,;GJA5,synonymous_variant,p.%3D,ENST00000369237,;GJA5,downstream_gene_variant,,ENST00000430508,;RP11-433J22.2,non_coding_transcript_exon_variant,,ENST00000428911,;	993	165	241	SUCCESS
SETDB1	9869	.	GRCh37	1	150933423	150933423	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	12	127	0	ENST00000271640.5:c.2885C>G	p.Ser962Ter	p.S962*	ENST00000271640	NM_001145415.1	962	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS44217.1	2885	MUTECT|MUSE	.	TCCCTCAATCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51573,PROSITE_profiles:PS50280,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884,Pfam_domain:PF00856,SMART_domains:SM00317	.	.	ENSP00000271640	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000271640	Transcript	.	.	ENSG00000143379	10761	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SETB1_HUMAN	SETDB1	HGNC	E9PS59_HUMAN,B0QZE6_HUMAN	.	UPI0000135897	SNV	SETDB1,stop_gained,p.Ser962Ter,ENST00000498193,;SETDB1,stop_gained,p.Ser962Ter,ENST00000271640,;SETDB1,stop_gained,p.Ser962Ter,ENST00000368969,;CERS2,downstream_gene_variant,,ENST00000561294,;CERS2,downstream_gene_variant,,ENST00000560793,;CERS2,downstream_gene_variant,,ENST00000368954,;CERS2,downstream_gene_variant,,ENST00000271688,;RP11-316M1.12,upstream_gene_variant,,ENST00000560481,;RP11-316M1.12,upstream_gene_variant,,ENST00000561111,;SETDB1,downstream_gene_variant,,ENST00000459773,;CERS2,downstream_gene_variant,,ENST00000345896,;CERS2,intron_variant,,ENST00000482825,;SETDB1,upstream_gene_variant,,ENST00000533529,;SETDB1,upstream_gene_variant,,ENST00000497314,;SETDB1,upstream_gene_variant,,ENST00000528749,;	3075	127	179	SUCCESS
LMNA	4000	.	GRCh37	1	156108485	156108485	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	44	162	0	ENST00000368300.4:c.1905C>T	p.Gly635=	p.G635=	ENST00000368300	NM_170707.3	635	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1129.1	1905	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCAGCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF158,hmmpanther:PTHR23239	.	.	ENSP00000357283	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000368300	Transcript	.	.	ENSG00000160789	6636	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LMNA_HUMAN	LMNA	HGNC	Q5I6Y5_HUMAN	.	UPI000012E20D	SNV	LMNA,synonymous_variant,p.%3D,ENST00000347559,;LMNA,synonymous_variant,p.%3D,ENST00000473598,;LMNA,synonymous_variant,p.%3D,ENST00000508500,;LMNA,synonymous_variant,p.%3D,ENST00000448611,;LMNA,synonymous_variant,p.%3D,ENST00000368300,;LMNA,intron_variant,,ENST00000368299,;LMNA,downstream_gene_variant,,ENST00000392353,;LMNA,downstream_gene_variant,,ENST00000368301,;LMNA,downstream_gene_variant,,ENST00000368297,;LMNA,downstream_gene_variant,,ENST00000504687,;LMNA,downstream_gene_variant,,ENST00000361308,;LMNA,non_coding_transcript_exon_variant,,ENST00000496738,;LMNA,downstream_gene_variant,,ENST00000502357,;LMNA,downstream_gene_variant,,ENST00000459904,;LMNA,downstream_gene_variant,,ENST00000502751,;LMNA,downstream_gene_variant,,ENST00000470199,;LMNA,downstream_gene_variant,,ENST00000469565,;LMNA,non_coding_transcript_exon_variant,,ENST00000506981,;LMNA,downstream_gene_variant,,ENST00000498722,;LMNA,downstream_gene_variant,,ENST00000515824,;LMNA,downstream_gene_variant,,ENST00000515459,;LMNA,downstream_gene_variant,,ENST00000368298,;	2117	162	211	SUCCESS
CD1D	912	.	GRCh37	1	158151417	158151417	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777431623	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	46	0	ENST00000368171.3:c.234C>G	p.Asp78Glu	p.D78E	ENST00000368171	NM_001766.3	78	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS1173.1	234	MUTECT|MUSE|VARSCANS	.	AGCGACCAGCA	NONE	byFrequency	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000357153	.	3/7	.	.	.	.	.	.	.	.	rs777431623	3/7	PASS	ENST00000368171	Transcript	.	.	ENSG00000158473	1637	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.2)	.	CD1D_HUMAN	CD1D	HGNC	.	.	UPI00000012B1	SNV	CD1D,missense_variant,p.Asp78Glu,ENST00000368171,;ELL2P1,upstream_gene_variant,,ENST00000413990,;	733	46	45	SUCCESS
FMO1	2326	.	GRCh37	1	171236701	171236701	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	41	114	0	ENST00000354841.4:c.152G>A	p.Arg51Lys	p.R51K	ENST00000354841	NM_001282692.1	51	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS1294.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGAGCCA	NONE	.	.	hmmpanther:PTHR23023:SF57,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Superfamily_domains:SSF51905,Prints_domain:PR00370	.	.	ENSP00000346901	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000354841	Transcript	.	.	ENSG00000010932	3769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	tolerated(0.06)	.	FMO1_HUMAN	FMO1	HGNC	Q5QPT3_HUMAN	.	UPI000000DBBA	SNV	FMO1,missense_variant,p.Arg51Lys,ENST00000354841,;FMO1,missense_variant,p.Arg51Lys,ENST00000367750,;FMO1,missense_variant,p.Arg51Lys,ENST00000433267,;FMO1,intron_variant,,ENST00000402921,;FMO1,non_coding_transcript_exon_variant,,ENST00000469112,;FMO1,non_coding_transcript_exon_variant,,ENST00000459868,;HMGB1P11,downstream_gene_variant,,ENST00000413899,;	283	114	173	SUCCESS
BRINP2	57795	.	GRCh37	1	177247856	177247856	+	synonymous_variant	Silent	SNP	A	A	T	rs1398005981	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	105	0	ENST00000361539.4:c.1170A>T	p.Leu390=	p.L390=	ENST00000361539	NM_021165.2	390	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1320.1	1170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTACGCCG	BUFFER|p.R392Q|c.1175G>A|3	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,synonymous_variant,p.%3D,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	1482	105	106	SUCCESS
UBR4	23352	.	GRCh37	1	19511693	19511693	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs377298895	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	77	0	ENST00000375254.3:c.1838C>A	p.Pro613Gln	p.P613Q	ENST00000375254	NM_020765.2	613	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS189.1	1838	MUTECT|MUSE	.	GAGGTGGGGGA	NONE	.	.	hmmpanther:PTHR21725,Low_complexity_(Seg):seg	.	.	ENSP00000364403	.	15/106	.	.	.	.	.	.	.	.	.	15/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.259)	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Pro613Gln,ENST00000375254,;UBR4,missense_variant,p.Pro613Gln,ENST00000375217,;UBR4,missense_variant,p.Pro613Gln,ENST00000375267,;UBR4,missense_variant,p.Pro613Gln,ENST00000375226,;	1866	77	46	SUCCESS
CR1	1378	.	GRCh37	1	207679429	207679429	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs199647026	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	27	128	0	ENST00000367051.1:c.301+1G>A		p.X101_splice	ENST00000367051		101		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44308.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGTAAGT	NONE	byCluster	.	.	.	.	ENSP00000356016	.	.	.	.	.	.	.	.	.	.	rs199647026,COSM4027618,COSM4027617	.	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	HIGH	2/46	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,splice_donor_variant,,ENST00000367051,;CR1,splice_donor_variant,,ENST00000400960,;CR1,splice_donor_variant,,ENST00000367052,;CR1,splice_donor_variant,,ENST00000367049,;CR1,splice_donor_variant,,ENST00000534202,;CR1,splice_donor_variant,,ENST00000529814,;CR1,splice_donor_variant,,ENST00000367053,;CR1,splice_donor_variant,,ENST00000367050,;CR1,splice_donor_variant,,ENST00000434033,;CR1,splice_donor_variant,,ENST00000436595,;CR1,splice_donor_variant,,ENST00000450439,;CR1,splice_donor_variant,,ENST00000530487,;	.	128	109	SUCCESS
USH2A	7399	.	GRCh37	1	216373462	216373462	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	38	0	ENST00000307340.3:c.3318T>C		p.X1106_splice	ENST00000307340	NM_206933.2	1106	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31025.1	3318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATACCTGA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	17/72	.	.	.	.	.	.	.	.	.	17/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366942,;USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	3705	38	15	SUCCESS
EPHX1	2052	.	GRCh37	1	226030103	226030103	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373882933	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	47	79	0	ENST00000272167.5:c.968C>A	p.Ala323Asp	p.A323D	ENST00000272167	NM_001136018.2	323	gCc/gAc	0	T:0	.	.	.	.	A	A/D	protein_coding	YES	CCDS1547.1	968	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCCTATA	NONE	byCluster	.	hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF10,Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF001112,Superfamily_domains:SSF53474	.	T:0.0001	ENSP00000355802	.	7/9	.	.	.	.	.	.	.	.	rs373882933	7/9	PASS	ENST00000366837	Transcript	.	.	ENSG00000143819	3401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.658)	.	deleterious(0.01)	.	HYEP_HUMAN	EPHX1	HGNC	R4SBI6_HUMAN,B1AQP9_HUMAN,B1AQP8_HUMAN	.	UPI000012CFF2	SNV	EPHX1,missense_variant,p.Ala323Asp,ENST00000366837,;EPHX1,missense_variant,p.Ala323Asp,ENST00000272167,;TMEM63A,downstream_gene_variant,,ENST00000366835,;EPHX1,downstream_gene_variant,,ENST00000448202,;EPHX1,downstream_gene_variant,,ENST00000445856,;RP11-285F7.2,intron_variant,,ENST00000424332,;TMEM63A,downstream_gene_variant,,ENST00000496025,;TMEM63A,downstream_gene_variant,,ENST00000482753,;	1164	79	101	SUCCESS
CHRM3	1131	.	GRCh37	1	240072218	240072218	+	synonymous_variant	Silent	SNP	G	G	A	rs762495692	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	32	134	0	ENST00000255380.4:c.1467G>A	p.Ala489=	p.A489=	ENST00000255380	NM_000740.2	489	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1616.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGGCCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	rs762495692	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,synonymous_variant,p.%3D,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	2246	134	136	SUCCESS
SEPN1	0	.	GRCh37	1	26139198	26139198	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	58	114	0	ENST00000361547.2:c.1302T>A	p.Thr434=	p.T434=	ENST00000361547	NM_020451.2	434	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41282.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTGAGGC	NONE	.	.	hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF39	.	.	ENSP00000355141	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000361547	Transcript	.	.	ENSG00000162430	15999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELN_HUMAN	SEPN1	HGNC	D3DPJ3_HUMAN	.	UPI00003761B2	SNV	SEPN1,synonymous_variant,p.%3D,ENST00000361547,;SEPN1,synonymous_variant,p.%3D,ENST00000354177,;SEPN1,synonymous_variant,p.%3D,ENST00000374315,;RP1-317E23.3,downstream_gene_variant,,ENST00000442055,;SEPN1,upstream_gene_variant,,ENST00000494537,;RP1-317E23.6,intron_variant,,ENST00000559265,;RP1-317E23.6,upstream_gene_variant,,ENST00000527604,;RP1-317E23.3,downstream_gene_variant,,ENST00000453649,;	1357	114	79	SUCCESS
MACF1	23499	.	GRCh37	1	39751339	39751339	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	136	232	0	ENST00000372915.3:c.1432C>A	p.Gln478Lys	p.Q478K	ENST00000372915		478	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS435.1	1432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCAGGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	14/94	.	.	.	.	.	.	.	.	.	14/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Gln478Lys,ENST00000361689,;MACF1,missense_variant,p.Gln473Lys,ENST00000564288,;MACF1,missense_variant,p.Gln627Lys,ENST00000530262,;MACF1,missense_variant,p.Gln478Lys,ENST00000539005,;MACF1,missense_variant,p.Gln478Lys,ENST00000372915,;MACF1,missense_variant,p.Gln478Lys,ENST00000317713,;MACF1,missense_variant,p.Gln510Lys,ENST00000567887,;MACF1,missense_variant,p.Gln478Lys,ENST00000545844,;MACF1,missense_variant,p.Gln436Lys,ENST00000524432,;MACF1,downstream_gene_variant,,ENST00000536367,;MACF1,missense_variant,p.Gln638Lys,ENST00000496804,;MACF1,non_coding_transcript_exon_variant,,ENST00000484393,;MACF1,downstream_gene_variant,,ENST00000485063,;MACF1,downstream_gene_variant,,ENST00000472385,;	1540	232	173	SUCCESS
TYW3	127253	.	GRCh37	1	75199081	75199081	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	55	0	ENST00000370867.3:c.153C>T	p.Gly51=	p.G51=	ENST00000370867	NM_138467.2	51	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS666.1	153	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCCGCAT	NONE	.	.	hmmpanther:PTHR23245,hmmpanther:PTHR23245:SF31,Pfam_domain:PF02676,Gene3D:1tljA00,Superfamily_domains:0044041	.	.	ENSP00000359904	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000370867	Transcript	.	.	ENSG00000162623	24757	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TYW3_HUMAN	TYW3	HGNC	.	.	UPI000006EC9D	SNV	TYW3,synonymous_variant,p.%3D,ENST00000370867,;TYW3,synonymous_variant,p.%3D,ENST00000457880,;TYW3,synonymous_variant,p.%3D,ENST00000421739,;CRYZ,5_prime_UTR_variant,,ENST00000417775,;TYW3,5_prime_UTR_variant,,ENST00000479111,;TYW3,upstream_gene_variant,,ENST00000483990,;CRYZ,upstream_gene_variant,,ENST00000370871,;CRYZ,upstream_gene_variant,,ENST00000370872,;CRYZ,upstream_gene_variant,,ENST00000370870,;CRYZ,upstream_gene_variant,,ENST00000441120,;CRYZ,upstream_gene_variant,,ENST00000340866,;	242	55	40	SUCCESS
CDC7	8317	.	GRCh37	1	91978829	91978829	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	19	178	0	ENST00000234626.6:c.787G>T	p.Ala263Ser	p.A263S	ENST00000234626	NM_001134419.1	263	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS734.1	787	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGCACAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF7,hmmpanther:PTHR11909,SMART_domains:SM00220	.	.	ENSP00000393139	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000428239	Transcript	.	.	ENSG00000097046	1745	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.82)	.	CDC7_HUMAN	CDC7	HGNC	B1AMW7_HUMAN	.	UPI0000127400	SNV	CDC7,missense_variant,p.Ala235Ser,ENST00000430031,;CDC7,missense_variant,p.Ala263Ser,ENST00000428239,;CDC7,missense_variant,p.Ala263Ser,ENST00000234626,;CDC7,downstream_gene_variant,,ENST00000426137,;CDC7,non_coding_transcript_exon_variant,,ENST00000486509,;CDC7,downstream_gene_variant,,ENST00000497611,;	1046	178	112	SUCCESS
UBOX5	22888	.	GRCh37	20	3102976	3102976	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	46	104	0	ENST00000217173.2:c.309C>T	p.Gly103=	p.G103=	ENST00000217173	NM_001267584.1	103	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13046.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCCCAG	NONE	.	.	hmmpanther:PTHR13492:SF1,hmmpanther:PTHR13492	.	.	ENSP00000217173	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000217173	Transcript	.	.	ENSG00000185019	17777	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF37_HUMAN	UBOX5	HGNC	A2A2Q6_HUMAN	.	UPI0000137935	SNV	UBOX5,synonymous_variant,p.%3D,ENST00000217173,;UBOX5,synonymous_variant,p.%3D,ENST00000348031,;UBOX5,downstream_gene_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;	781	104	99	SUCCESS
FAM65C	0	.	GRCh37	20	49214133	49214133	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	92	0	ENST00000327979.2:c.1762G>T	p.Gly588Cys	p.G588C	ENST00000327979		588	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS13431.2	1762	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCCCAA	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Gly588Cys,ENST00000327979,;FAM65C,missense_variant,p.Gly592Cys,ENST00000535356,;FAM65C,missense_variant,p.Gly588Cys,ENST00000045083,;FAM65C,non_coding_transcript_exon_variant,,ENST00000488529,;FAM65C,upstream_gene_variant,,ENST00000482129,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	2174	92	121	SUCCESS
TTLL8	164714	.	GRCh37	22	50483805	50483805	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	6	82	0	ENST00000433387.1:c.630C>A	p.Arg210=	p.R210=	ENST00000433387		210	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	.	630	MUTECT|MUSE	.	ATGGTGCGCCG	NONE	.	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF88	.	.	ENSP00000392252	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000433387	Transcript	.	.	ENSG00000138892	34000	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTLL8_HUMAN	TTLL8	HGNC	.	.	UPI0001915500	SNV	TTLL8,synonymous_variant,p.%3D,ENST00000440475,;TTLL8,synonymous_variant,p.%3D,ENST00000433387,;TTLL8,synonymous_variant,p.%3D,ENST00000266182,;TTLL8,downstream_gene_variant,,ENST00000477219,;	630	82	141	SUCCESS
DPP10	57628	.	GRCh37	2	116593811	116593811	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	15	120	0	ENST00000410059.1:c.2029A>C	p.Ile677Leu	p.I677L	ENST00000410059	NM_001178037.1	677	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS54388.1	2041	RADIA|MUTECT|MUSE|VARSCANS	.	CACCTATCACA	NONE	.	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000376855	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.176)	.	deleterious(0.03)	.	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Ile681Leu,ENST00000393147,;DPP10,missense_variant,p.Ile627Leu,ENST00000409163,;DPP10,missense_variant,p.Ile670Leu,ENST00000310323,;DPP10,missense_variant,p.Ile677Leu,ENST00000410059,;DPP10,non_coding_transcript_exon_variant,,ENST00000473362,;	2396	120	98	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125192079	125192079	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	80	214	0	ENST00000431078.1:c.548T>G	p.Phe183Cys	p.F183C	ENST00000431078	NM_130773.3	183	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS46401.1	548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTTTGATG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.Phe183Cys,ENST00000431078,;	912	214	170	SUCCESS
TTN	7273	.	GRCh37	2	179648880	179648880	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	12	229	0	ENST00000591111.1:c.2692G>A	p.Val898Met	p.V898M	ENST00000591111		898	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS59435.1	2692	MUTECT|MUSE	.	TTTCACCTCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	16/363	.	.	.	.	.	.	.	.	.	16/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val898Met,ENST00000360870,;TTN,missense_variant,p.Val898Met,ENST00000342992,;TTN,missense_variant,p.Val852Met,ENST00000342175,;TTN,missense_variant,p.Val852Met,ENST00000359218,;TTN,missense_variant,p.Val898Met,ENST00000589042,;TTN,missense_variant,p.Val898Met,ENST00000591111,;TTN,missense_variant,p.Val852Met,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000436599,;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	2917	229	227	SUCCESS
BCL11A	53335	.	GRCh37	2	60687558	60687558	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	28	77	0	ENST00000335712.6:c.2489A>C	p.Asn830Thr	p.N830T	ENST00000335712	NM_022893.3	830	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS1862.1	2489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCATTATTC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43	.	.	ENSP00000338774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335712	Transcript	.	.	ENSG00000119866	13221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.16)	.	BC11A_HUMAN	BCL11A	HGNC	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN	.	UPI000013DC00	SNV	BCL11A,missense_variant,p.Asn796Thr,ENST00000358510,;BCL11A,missense_variant,p.Asn830Thr,ENST00000335712,;BCL11A,intron_variant,,ENST00000538214,;BCL11A,intron_variant,,ENST00000359629,;BCL11A,intron_variant,,ENST00000356842,;BCL11A,intron_variant,,ENST00000537768,;BCL11A,non_coding_transcript_exon_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;	2717	77	46	SUCCESS
USP34	9736	.	GRCh37	2	61571021	61571021	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373411362	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	100	179	0	ENST00000398571.2:c.2429C>A	p.Ala810Glu	p.A810E	ENST00000398571	NM_014709.3	810	gCg/gAg	0	A:0.0003	A:0	.	A:0	.	T	A/E	protein_coding	YES	CCDS42686.1	2429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGCATGT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000381577	A:0	16/80	.	.	.	.	.	.	.	.	rs373411362	16/80	PASS	ENST00000398571	Transcript	.	A:0.0004	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	A:0.002	tolerated(0.12)	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,missense_variant,p.Ala810Glu,ENST00000398571,;USP34,non_coding_transcript_exon_variant,,ENST00000460004,;USP34,downstream_gene_variant,,ENST00000453133,;	2506	179	153	SUCCESS
ASAP2	8853	.	GRCh37	2	9533657	9533657	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778807638	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	55	0	ENST00000281419.3:c.2565C>A	p.Ser855Arg	p.S855R	ENST00000281419	NM_003887.2	855	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS1661.1	2565	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGTAAT	NONE	byFrequency	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238	.	.	ENSP00000281419	.	24/28	.	.	.	.	.	.	.	.	rs778807638	24/28	PASS	ENST00000281419	Transcript	.	.	ENSG00000151693	2721	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.111)	.	tolerated(0.37)	.	ASAP2_HUMAN	ASAP2	HGNC	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN	.	UPI0000073459	SNV	ASAP2,missense_variant,p.Ser855Arg,ENST00000281419,;ASAP2,missense_variant,p.Ser810Arg,ENST00000315273,;ASAP2,non_coding_transcript_exon_variant,,ENST00000491413,;	2905	55	60	SUCCESS
UROC1	131669	.	GRCh37	3	126229602	126229602	+	synonymous_variant	Silent	SNP	C	C	T	rs557996880	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	35	0	ENST00000290868.2:c.162G>A	p.Pro54=	p.P54=	ENST00000290868	NM_144639.2	54	ccG/ccA	0	.	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS54636.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCGGGGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3	T:0	.	ENSP00000373073	T:0	2/21	.	.	.	.	.	.	.	.	rs557996880	2/21	PASS	ENST00000383579	Transcript	.	T:0.0002	ENSG00000159650	26444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	HUTU_HUMAN	UROC1	HGNC	.	.	UPI0000480109	SNV	UROC1,synonymous_variant,p.%3D,ENST00000383579,;UROC1,synonymous_variant,p.%3D,ENST00000290868,;	196	35	41	SUCCESS
TMCC1	23023	.	GRCh37	3	129547259	129547259	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	50	0	ENST00000393238.3:c.-38T>A		p.*13*	ENST00000393238	NM_001017395.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33855.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAATTTTT	NONE	.	.	.	.	.	ENSP00000376930	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000393238	Transcript	.	.	ENSG00000172765	29116	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMCC1_HUMAN	TMCC1	HGNC	Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN	.	UPI0000197B80	SNV	TMCC1,5_prime_UTR_variant,,ENST00000393238,;TMCC1,intron_variant,,ENST00000505616,;TMCC1,intron_variant,,ENST00000426664,;TMCC1,intron_variant,,ENST00000513411,;TMCC1,downstream_gene_variant,,ENST00000512902,;TMCC1,intron_variant,,ENST00000505924,;TMCC1,downstream_gene_variant,,ENST00000508869,;	304	50	48	SUCCESS
COL6A5	256076	.	GRCh37	3	130098302	130098302	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	81	152	0	ENST00000312481.7:c.709C>A	p.Leu237Ile	p.L237I	ENST00000312481		237	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	.	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCTCGTG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.56)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Leu237Ile,ENST00000432398,;COL6A5,missense_variant,p.Leu237Ile,ENST00000265379,;COL6A5,missense_variant,p.Leu237Ile,ENST00000312481,;	1203	152	181	SUCCESS
ABCC5	10057	.	GRCh37	3	183655819	183655819	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1159018525	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	116	0	ENST00000334444.6:c.3724C>T	p.Arg1242Cys	p.R1242C	ENST00000334444	NM_005688.2	1242	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS43176.1	3724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGGAAGA	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000333926	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000334444	Transcript	.	.	ENSG00000114770	56	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MRP5_HUMAN	ABCC5	HGNC	C9JZL5_HUMAN	.	UPI000004A33C	SNV	ABCC5,missense_variant,p.Arg1199Cys,ENST00000265586,;ABCC5,missense_variant,p.Arg1242Cys,ENST00000334444,;ABCC5,synonymous_variant,p.%3D,ENST00000443497,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;	3965	116	117	SUCCESS
XIRP1	165904	.	GRCh37	3	39226588	39226588	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	61	0	ENST00000340369.3:c.4349T>C	p.Met1450Thr	p.M1450T	ENST00000340369	NM_194293.2	1450	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS2683.1	4349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCATGGGC	NONE	.	.	hmmpanther:PTHR22591	.	.	ENSP00000343140	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340369	Transcript	.	.	ENSG00000168334	14301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.19)	.	XIRP1_HUMAN	XIRP1	HGNC	.	.	UPI00001BFB06	SNV	XIRP1,missense_variant,p.Met133Thr,ENST00000421646,;XIRP1,missense_variant,p.Met1450Thr,ENST00000340369,;XIRP1,3_prime_UTR_variant,,ENST00000396251,;	4578	61	47	SUCCESS
TRAK1	22906	.	GRCh37	3	42234621	42234660	+	frameshift_variant	Frame_Shift_Del	DEL	AAGATGCTGCCCGCCAGCAAGAGGAGATCACACACCTGCT	AAGATGCTGCCCGCCAGCAAGAGGAGATCACACACCTGCT	-	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	AAGATGCTGCCCGCCAGCAAGAGGAGATCACACACCTGCT	AAGATGCTGCCCGCCAGCAAGAGGAGATCACACACCTGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	142	0	ENST00000327628.5:c.825_864del	p.Glu275AspfsTer4	p.E275Dfs*4	ENST00000327628	NM_001042646.2	275	gAAGATGCTGCCCGCCAGCAAGAGGAGATCACACACCTGCTa/ga	0	.	.	.	.	.	-	EDAARQQEEITHLL/X	protein_coding	YES	CCDS43072.1	824-863	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACGGAAGATGCTGCCCGCCAGCAAGAGGAGATCACACACCTGCTATCGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15751:SF11,hmmpanther:PTHR15751,Pfam_domain:PF04849	.	.	ENSP00000328998	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000327628	Transcript	.	.	ENSG00000182606	29947	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRAK1_HUMAN	TRAK1	HGNC	.	.	UPI0000139F52	deletion	TRAK1,frameshift_variant,p.Glu201AspfsTer4,ENST00000449246,;TRAK1,frameshift_variant,p.Glu217AspfsTer4,ENST00000396175,;TRAK1,frameshift_variant,p.Glu18AspfsTer4,ENST00000427771,;TRAK1,frameshift_variant,p.Glu217AspfsTer4,ENST00000341421,;TRAK1,frameshift_variant,p.Glu275AspfsTer4,ENST00000327628,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;TRAK1,non_coding_transcript_exon_variant,,ENST00000484786,;	1224-1263	142	80	SUCCESS
CDCP1	64866	.	GRCh37	3	45153758	45153758	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs149422328	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	88	0	ENST00000296129.1:c.472G>C	p.Gly158Arg	p.G158R	ENST00000296129	NM_022842.4	158	Gga/Cga	0	T:0.0007	T:0.0015	.	T:0	.	G	G/R	protein_coding	YES	CCDS2727.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCGTCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	T:0	T:0	ENSP00000296129	T:0	3/9	.	.	.	.	.	.	.	.	rs149422328	3/9	PASS	ENST00000296129	Transcript	.	T:0.0004	ENSG00000163814	24357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	T:0	tolerated(0.86)	.	CDCP1_HUMAN	CDCP1	HGNC	.	.	UPI000013E304	SNV	CDCP1,missense_variant,p.Gly158Arg,ENST00000425231,;CDCP1,missense_variant,p.Gly158Arg,ENST00000296129,;CDCP1,downstream_gene_variant,,ENST00000490471,;	607	88	53	SUCCESS
SFMBT1	51460	.	GRCh37	3	52962211	52962211	+	synonymous_variant	Silent	SNP	A	A	C	rs778615235	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	44	0	ENST00000394752.3:c.1044T>G	p.Pro348=	p.P348=	ENST00000394752	NM_016329.3	348	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS2867.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGAGGGGG	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247:SF77,hmmpanther:PTHR12247,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000378235	.	9/21	.	.	.	.	.	.	.	.	rs778615235	9/21	PASS	ENST00000394752	Transcript	.	.	ENSG00000163935	20255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMBT1_HUMAN	SFMBT1	HGNC	C9JWI3_HUMAN,C9IZZ5_HUMAN,C9IY64_HUMAN	.	UPI0000070BC6	SNV	SFMBT1,synonymous_variant,p.%3D,ENST00000394750,;SFMBT1,synonymous_variant,p.%3D,ENST00000358080,;SFMBT1,synonymous_variant,p.%3D,ENST00000394752,;SFMBT1,synonymous_variant,p.%3D,ENST00000296295,;SFMBT1,non_coding_transcript_exon_variant,,ENST00000492146,;	1427	44	25	SUCCESS
UCP1	7350	.	GRCh37	4	141484605	141484605	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	99	0	ENST00000262999.3:c.393G>A	p.Gly131=	p.G131=	ENST00000262999	NM_021833.4	131	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3753.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGCCCAAT	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF210,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000262999	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000262999	Transcript	.	.	ENSG00000109424	12517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCP1_HUMAN	UCP1	HGNC	Q4KMT7_HUMAN	.	UPI000003627B	SNV	UCP1,synonymous_variant,p.%3D,ENST00000262999,;	469	99	61	SUCCESS
KIAA1239	0	.	GRCh37	4	37447599	37447599	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	5	117	0	ENST00000309447.5:c.3989T>A	p.Ile1330Asn	p.I1330N	ENST00000309447	NM_001144990.1	1330	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS47040.1	3989	MUTECT|MUSE	.	GGAAATCATTT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,Superfamily_domains:SSF82171	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.067)	.	tolerated(0.31)	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,missense_variant,p.Ile1330Asn,ENST00000309447,;	4837	117	119	SUCCESS
PPP2R2C	5522	.	GRCh37	4	6377634	6377634	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	81	192	0	ENST00000382599.4:c.359T>A	p.Ile120Asn	p.I120N	ENST00000382599		120	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS3388.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTAATCTTC	NONE	.	.	hmmpanther:PTHR11871:SF5,hmmpanther:PTHR11871,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037309,Superfamily_domains:SSF50978,Prints_domain:PR00600	.	.	ENSP00000335083	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000335585	Transcript	.	.	ENSG00000074211	9306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	2ABG_HUMAN	PPP2R2C	HGNC	.	.	UPI0000140CE7	SNV	PPP2R2C,missense_variant,p.Ile103Asn,ENST00000515571,;PPP2R2C,missense_variant,p.Ile113Asn,ENST00000506140,;PPP2R2C,missense_variant,p.Ile120Asn,ENST00000382599,;PPP2R2C,missense_variant,p.Ile120Asn,ENST00000335585,;PPP2R2C,missense_variant,p.Ile113Asn,ENST00000507294,;PPP2R2C,non_coding_transcript_exon_variant,,ENST00000314348,;PPP2R2C,downstream_gene_variant,,ENST00000507028,;PPP2R2C,3_prime_UTR_variant,,ENST00000509917,;PPP2R2C,non_coding_transcript_exon_variant,,ENST00000513943,;	383	192	174	SUCCESS
FRAS1	80144	.	GRCh37	4	79204044	79204044	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	117	0	ENST00000264895.6:c.1178A>G	p.Glu393Gly	p.E393G	ENST00000264895	NM_025074.6	393	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS54771.1	1178	MUTECT|MUSE	.	CTACGAGCCCT	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,PROSITE_patterns:PS01208,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000264895	.	12/74	.	.	.	.	.	.	.	.	.	12/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Glu322Gly,ENST00000502446,;FRAS1,missense_variant,p.Glu393Gly,ENST00000325942,;FRAS1,missense_variant,p.Glu393Gly,ENST00000264899,;FRAS1,missense_variant,p.Glu393Gly,ENST00000264895,;FRAS1,missense_variant,p.Glu236Gly,ENST00000508900,;	1618	117	87	SUCCESS
AFF1	4299	.	GRCh37	4	88052964	88052964	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	18	165	0	ENST00000307808.6:c.3100T>A	p.Ser1034Thr	p.S1034T	ENST00000307808	NM_005935.2	1034	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS54775.1	3121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATCCTTC	NONE	.	.	hmmpanther:PTHR10528:SF14,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000378578	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000395146	Transcript	1	.	ENSG00000172493	7135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.53)	.	AFF1_HUMAN	AFF1	HGNC	Q712L1_HUMAN,F5GXF9_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN	.	UPI000013EC52	SNV	AFF1,missense_variant,p.Ser1034Thr,ENST00000307808,;AFF1,missense_variant,p.Ser1041Thr,ENST00000395146,;AFF1,missense_variant,p.Ser672Thr,ENST00000544085,;	3396	165	95	SUCCESS
SLCO6A1	133482	.	GRCh37	5	101755554	101755554	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	13	220	0	ENST00000379807.3:c.1448C>T	p.Ala483Val	p.A483V	ENST00000379807	NM_173488.3	483	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34206.1	1448	MUTECT|MUSE	.	TCCCAGCAAAT	NONE	.	.	hmmpanther:PTHR11388:SF3,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137	.	.	ENSP00000421339	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000506729	Transcript	.	.	ENSG00000205359	23613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SO6A1_HUMAN	SLCO6A1	HGNC	H0Y8R6_HUMAN,D3DSZ4_HUMAN	.	UPI000020C392	SNV	SLCO6A1,missense_variant,p.Ala483Val,ENST00000379807,;SLCO6A1,missense_variant,p.Ala483Val,ENST00000506729,;SLCO6A1,missense_variant,p.Ala421Val,ENST00000389019,;SLCO6A1,intron_variant,,ENST00000513675,;SLCO6A1,intron_variant,,ENST00000379810,;SLCO6A1,downstream_gene_variant,,ENST00000514551,;	1620	220	177	SUCCESS
ARAP3	64411	.	GRCh37	5	141059772	141059772	+	synonymous_variant	Silent	SNP	G	G	A	rs146312944	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	58	134	0	ENST00000239440.4:c.282C>T	p.Pro94=	p.P94=	ENST00000239440	NM_022481.5	94	ccC/ccT	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS4266.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACGGGCTT	NONE	byCluster	.	Low_complexity_(Seg):seg	.	A:0.0001	ENSP00000239440	.	2/33	.	.	.	.	.	.	.	.	rs146312944,COSM3611779	2/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,synonymous_variant,p.%3D,ENST00000508305,;ARAP3,synonymous_variant,p.%3D,ENST00000239440,;ARAP3,synonymous_variant,p.%3D,ENST00000504448,;	348	134	121	SUCCESS
FAT2	2196	.	GRCh37	5	150945475	150945475	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764080414	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	6	117	0	ENST00000261800.5:c.3018G>T	p.Arg1006Ser	p.R1006S	ENST00000261800	NM_001447.2	1006	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4317.1	3018	MUTECT|MUSE	.	AGGGGCCTCCC	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	rs764080414	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Arg1006Ser,ENST00000261800,;	3031	117	139	SUCCESS
SGCD	6444	.	GRCh37	5	155935693	155935693	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	27	62	0	ENST00000435422.3:c.272A>T	p.Lys91Ile	p.K91I	ENST00000435422	NM_001128209.1	91	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS47325.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAAAGAAA	NONE	.	.	hmmpanther:PTHR12939:SF6,hmmpanther:PTHR12939,Pfam_domain:PF04790	.	.	ENSP00000338343	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337851	Transcript	1	.	ENSG00000170624	10807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.01)	.	SGCD_HUMAN	SGCD	HGNC	.	.	UPI00001678CF	SNV	SGCD,missense_variant,p.Lys91Ile,ENST00000435422,;SGCD,missense_variant,p.Lys92Ile,ENST00000337851,;SGCD,missense_variant,p.Lys92Ile,ENST00000447401,;SGCD,missense_variant,p.Lys92Ile,ENST00000517913,;SGCD,3_prime_UTR_variant,,ENST00000524347,;	794	62	54	SUCCESS
CYFIP2	26999	.	GRCh37	5	156755023	156755023	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	19	108	0	ENST00000521420.1:c.2044C>G	p.Gln682Glu	p.Q682E	ENST00000521420		682	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	.	2044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCAGATC	NONE	.	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994	.	.	ENSP00000430904	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	tolerated(0.09)	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,missense_variant,p.Gln682Glu,ENST00000521420,;CYFIP2,missense_variant,p.Gln708Glu,ENST00000377576,;CYFIP2,missense_variant,p.Gln633Glu,ENST00000541131,;CYFIP2,missense_variant,p.Gln733Glu,ENST00000318218,;CYFIP2,missense_variant,p.Gln407Glu,ENST00000435847,;CYFIP2,missense_variant,p.Gln708Glu,ENST00000347377,;CYFIP2,missense_variant,p.Gln512Glu,ENST00000522463,;CYFIP2,5_prime_UTR_variant,,ENST00000442283,;CYFIP2,downstream_gene_variant,,ENST00000520960,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000518555,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000520424,;	2135	108	97	SUCCESS
HMMR	3161	.	GRCh37	5	162911119	162911119	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	7	114	0	ENST00000358715.3:c.1827T>G	p.Asn609Lys	p.N609K	ENST00000358715		609	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS47334.1	1830	MUTECT|MUSE	.	TTGAATGAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18956	.	.	ENSP00000377492	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000393915	Transcript	.	.	ENSG00000072571	5012	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.628)	.	deleterious(0)	.	HMMR_HUMAN	HMMR	HGNC	E5RIH2_HUMAN,E5RI30_HUMAN,E3W978_HUMAN,B9UCQ3_HUMAN	.	UPI00001AE676	SNV	HMMR,missense_variant,p.Asn609Lys,ENST00000358715,;HMMR,missense_variant,p.Asn523Lys,ENST00000432118,;HMMR,missense_variant,p.Asn594Lys,ENST00000353866,;HMMR,missense_variant,p.Asn610Lys,ENST00000393915,;RP11-80G7.1,intron_variant,,ENST00000521666,;RP11-80G7.1,intron_variant,,ENST00000514724,;	1973	114	118	SUCCESS
CDH9	1007	.	GRCh37	5	26906841	26906841	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	83	0	ENST00000231021.4:c.630G>T	p.Val210=	p.V210=	ENST00000231021	NM_016279.3	210	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3893.1	630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCACTGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,synonymous_variant,p.%3D,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	803	83	64	SUCCESS
RICTOR	253260	.	GRCh37	5	38958582	38958582	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	81	201	0	ENST00000357387.3:c.2383T>A	p.Ser795Thr	p.S795T	ENST00000357387	NM_152756.3	795	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS34148.1	2383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGATAACG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,Pfam_domain:PF14663,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(1)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Ser795Thr,ENST00000357387,;RICTOR,missense_variant,p.Ser795Thr,ENST00000296782,;RICTOR,non_coding_transcript_exon_variant,,ENST00000503698,;RICTOR,downstream_gene_variant,,ENST00000509567,;RICTOR,3_prime_UTR_variant,,ENST00000511516,;	2414	201	193	SUCCESS
GJA1	2697	.	GRCh37	6	121768871	121768871	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	74	0	ENST00000282561.3:c.878G>A	p.Arg293Lys	p.R293K	ENST00000282561	NM_000165.3	293	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS5123.1	878	RADIA|MUTECT|MUSE|VARSCANS	.	CGACAGAAACA	NONE	.	.	hmmpanther:PTHR11984:SF33,hmmpanther:PTHR11984,Pfam_domain:PF03508,Superfamily_domains:0049114,Prints_domain:PR01132	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.83)	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,missense_variant,p.Arg293Lys,ENST00000282561,;	1035	74	44	SUCCESS
LATS1	9113	.	GRCh37	6	150001056	150001058	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	25	104	190	0	ENST00000253339.5:c.2546_2548del	p.Leu849_Cys850delinsArg	p.L849_C850delinsR	ENST00000253339		849	cTCTgc/cgc	0	.	.	.	.	.	-	LC/R	protein_coding	YES	CCDS34551.1	2546-2548	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTGCAGAGGCCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000437550	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000543571	Transcript	.	.	ENSG00000131023	6514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LATS1_HUMAN	LATS1	HGNC	.	.	UPI0000073DC2	deletion	LATS1,inframe_deletion,p.Leu849_Cys850delinsArg,ENST00000253339,;LATS1,inframe_deletion,p.Leu849_Cys850delinsArg,ENST00000543571,;LATS1,downstream_gene_variant,,ENST00000392273,;LATS1,downstream_gene_variant,,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;	3094-3096	190	129	SUCCESS
KMT2E	55904	.	GRCh37	7	104746372	104746372	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	22	142	0	ENST00000257745.4:c.2518C>T	p.Gln840Ter	p.Q840*	ENST00000257745	NM_018682.3	840	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34723.1	2518	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCAAGAA	NONE	.	.	hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,stop_gained,p.Gln840Ter,ENST00000257745,;KMT2E,stop_gained,p.Gln840Ter,ENST00000311117,;KMT2E,stop_gained,p.Gln840Ter,ENST00000334877,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,upstream_gene_variant,,ENST00000473063,;KMT2E,downstream_gene_variant,,ENST00000479838,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,stop_gained,p.Gln840Ter,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;	3063	142	137	SUCCESS
PKD1L1	168507	.	GRCh37	7	47849144	47849144	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	39	0	ENST00000289672.2:c.7613T>C	p.Leu2538Pro	p.L2538P	ENST00000289672	NM_138295.3	2538	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34633.1	7613	RADIA|MUSE|VARSCANS	.	CACAGAGGTGG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	51/57	.	.	.	.	.	.	.	.	.	51/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Leu129Pro,ENST00000433506,;PKD1L1,missense_variant,p.Leu2538Pro,ENST00000289672,;C7orf69,intron_variant,,ENST00000418326,;C7orf69,intron_variant,,ENST00000258776,;PKD1L1,non_coding_transcript_exon_variant,,ENST00000462350,;PKD1L1,non_coding_transcript_exon_variant,,ENST00000483616,;HUS1,intron_variant,,ENST00000436444,;	7664	39	41	SUCCESS
CCZ1B	221960	.	GRCh37	7	6851599	6851599	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	30	176	0	ENST00000316731.8:c.938A>T	p.His313Leu	p.H313L	ENST00000316731	NM_198097.3	313	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5354.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAATGGAGC	NONE	.	.	hmmpanther:PTHR13056,Pfam_domain:PF08217	.	.	ENSP00000314544	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000316731	Transcript	.	.	ENSG00000146574	21717	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.17)	.	CCZ1B_HUMAN	CCZ1B	HGNC	Q7L8P3_HUMAN,F5H553_HUMAN	.	UPI000006CEFF	SNV	CCZ1B,missense_variant,p.His170Leu,ENST00000538180,;CCZ1B,missense_variant,p.His313Leu,ENST00000316731,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000462378,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000485620,;CCZ1B,downstream_gene_variant,,ENST00000490178,;CCZ1B,downstream_gene_variant,,ENST00000411858,;CCZ1B,upstream_gene_variant,,ENST00000467004,;	1511	176	160	SUCCESS
ICA1	3382	.	GRCh37	7	8198174	8198174	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1032440988	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	122	0	ENST00000396675.3:c.688A>G	p.Met230Val	p.M230V	ENST00000396675	NM_022307.2	230	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS34602.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCATGTGAG	NONE	.	.	PROSITE_profiles:PS50870,hmmpanther:PTHR10164:SF3,hmmpanther:PTHR10164,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015,Superfamily_domains:SSF103657	.	.	ENSP00000385570	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000402384	Transcript	.	.	ENSG00000003147	5343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	ICA69_HUMAN	ICA1	HGNC	Q9UDQ6_HUMAN,F8WET5_HUMAN,C9J3Y4_HUMAN	.	UPI000012D139	SNV	ICA1,missense_variant,p.Met218Val,ENST00000317367,;ICA1,missense_variant,p.Met230Val,ENST00000422063,;ICA1,missense_variant,p.Met230Val,ENST00000396675,;ICA1,missense_variant,p.Met230Val,ENST00000407906,;ICA1,missense_variant,p.Met229Val,ENST00000265577,;ICA1,missense_variant,p.Met230Val,ENST00000406470,;ICA1,missense_variant,p.Met230Val,ENST00000402384,;ICA1,missense_variant,p.Met218Val,ENST00000401396,;AC007009.2,upstream_gene_variant,,ENST00000577980,;ICA1,intron_variant,,ENST00000486677,;ICA1,missense_variant,p.Met230Val,ENST00000339809,;ICA1,3_prime_UTR_variant,,ENST00000455539,;ICA1,non_coding_transcript_exon_variant,,ENST00000490041,;ICA1,upstream_gene_variant,,ENST00000470696,;	955	122	101	SUCCESS
ICA1	3382	.	GRCh37	7	8198175	8198175	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1381548654	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	122	0	ENST00000396675.3:c.687C>A	p.His229Gln	p.H229Q	ENST00000396675	NM_022307.2	229	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS34602.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGTGAGA	NONE	.	.	PROSITE_profiles:PS50870,hmmpanther:PTHR10164:SF3,hmmpanther:PTHR10164,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015,Superfamily_domains:SSF103657	.	.	ENSP00000385570	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000402384	Transcript	.	.	ENSG00000003147	5343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.02)	.	ICA69_HUMAN	ICA1	HGNC	Q9UDQ6_HUMAN,F8WET5_HUMAN,C9J3Y4_HUMAN	.	UPI000012D139	SNV	ICA1,missense_variant,p.His217Gln,ENST00000317367,;ICA1,missense_variant,p.His229Gln,ENST00000422063,;ICA1,missense_variant,p.His229Gln,ENST00000396675,;ICA1,missense_variant,p.His229Gln,ENST00000407906,;ICA1,missense_variant,p.His228Gln,ENST00000265577,;ICA1,missense_variant,p.His229Gln,ENST00000406470,;ICA1,missense_variant,p.His229Gln,ENST00000402384,;ICA1,missense_variant,p.His217Gln,ENST00000401396,;AC007009.2,upstream_gene_variant,,ENST00000577980,;ICA1,intron_variant,,ENST00000486677,;ICA1,missense_variant,p.His229Gln,ENST00000339809,;ICA1,3_prime_UTR_variant,,ENST00000455539,;ICA1,non_coding_transcript_exon_variant,,ENST00000490041,;ICA1,upstream_gene_variant,,ENST00000470696,;	954	122	103	SUCCESS
ANKIB1	54467	.	GRCh37	7	92028083	92028083	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	98	0	ENST00000265742.3:c.3090T>C	p.Ser1030=	p.S1030=	ENST00000265742	NM_019004.1	1030	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS47639.1	3090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGTGAAGG	NONE	.	.	.	.	.	ENSP00000265742	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000265742	Transcript	.	.	ENSG00000001629	22215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKIB1_HUMAN	ANKIB1	HGNC	Q4VBX8_HUMAN,C9JZ63_HUMAN	.	UPI00001C1E7C	SNV	ANKIB1,synonymous_variant,p.%3D,ENST00000265742,;ANKIB1,3_prime_UTR_variant,,ENST00000422095,;ANKIB1,downstream_gene_variant,,ENST00000465883,;	3466	98	120	SUCCESS
EGR3	1960	.	GRCh37	8	22548280	22548280	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	18	0	ENST00000317216.2:c.870C>T	p.Asp290=	p.D290=	ENST00000317216	NM_004430.2	290	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS6033.1	870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGTCCGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10042:SF24,hmmpanther:PTHR10042,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000318057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317216	Transcript	.	.	ENSG00000179388	3240	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGR3_HUMAN	EGR3	HGNC	B4DH80_HUMAN	.	UPI0000129E0F	SNV	EGR3,synonymous_variant,p.%3D,ENST00000522910,;EGR3,synonymous_variant,p.%3D,ENST00000317216,;EGR3,3_prime_UTR_variant,,ENST00000519492,;RP11-459E5.1,intron_variant,,ENST00000523627,;EGR3,non_coding_transcript_exon_variant,,ENST00000524088,;EGR3,downstream_gene_variant,,ENST00000518773,;	1228	18	47	SUCCESS
UNC5D	137970	.	GRCh37	8	35647893	35647893	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs374094705	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	69	1	ENST00000404895.2:c.2674G>T	p.Ala892Ser	p.A892S	ENST00000404895	NM_080872.2	892	Gct/Tct	0	A:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS6093.2	2674	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCGCTACA	CODON|p.F891F|c.2673C>T|5,CODON|p.F886F|c.2658C>T|5	byFrequency|byCluster	.	hmmpanther:PTHR12582:SF5,hmmpanther:PTHR12582,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986	.	A:0.0001	ENSP00000385143	.	17/17	.	.	.	.	.	.	.	.	rs374094705	17/17	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,missense_variant,p.Ala468Ser,ENST00000449677,;UNC5D,missense_variant,p.Ala887Ser,ENST00000453357,;UNC5D,missense_variant,p.Ala897Ser,ENST00000416672,;UNC5D,missense_variant,p.Ala892Ser,ENST00000404895,;UNC5D,missense_variant,p.Ala823Ser,ENST00000287272,;UNC5D,missense_variant,p.Ala825Ser,ENST00000420357,;AC012215.1,upstream_gene_variant,,ENST00000437887,;	3002	70	72	SUCCESS
COL15A1	1306	.	GRCh37	9	101748062	101748062	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201906975	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	48	81	0	ENST00000375001.3:c.316G>A	p.Val106Met	p.V106M	ENST00000375001	NM_001855.4	106	Gtg/Atg	0	.	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS35081.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTGCTC	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF13385,SMART_domains:SM00210,Superfamily_domains:SSF49899	A:0.002	.	ENSP00000364140	A:0	3/42	.	.	.	.	.	.	.	.	rs201906975	3/42	PASS	ENST00000375001	Transcript	.	A:0.0004	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	A:0	tolerated(0.12)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Val106Met,ENST00000375001,;COL15A1,non_coding_transcript_exon_variant,,ENST00000471477,;	739	81	59	SUCCESS
SLC46A2	57864	.	GRCh37	9	115652239	115652239	+	synonymous_variant	Silent	SNP	G	G	A	rs577863419	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	47	82	0	ENST00000374228.4:c.723C>T	p.Pro241=	p.P241=	ENST00000374228	NM_033051.3	241	ccC/ccT	0	.	A:0	.	A:0.0014	.	A	P	protein_coding	YES	CCDS6786.1	723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCGGGGAG	NONE	by1000G	.	hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF41,Pfam_domain:PF07690,Superfamily_domains:SSF103473	A:0	.	ENSP00000363345	A:0	1/4	.	.	.	.	.	.	.	.	rs577863419	1/4	PASS	ENST00000374228	Transcript	.	A:0.0002	ENSG00000119457	16055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TSCOT_HUMAN	SLC46A2	HGNC	.	.	UPI0000049F9E	SNV	SLC46A2,synonymous_variant,p.%3D,ENST00000374228,;RP11-408O19.5,downstream_gene_variant,,ENST00000605480,;SLC46A2,synonymous_variant,p.%3D,ENST00000491462,;	955	82	64	SUCCESS
LRRC26	389816	.	GRCh37	9	140063547	140063547	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	15	0	ENST00000371542.3:c.764A>G	p.Gln255Arg	p.Q255R	ENST00000371542	NM_001013653.2	255	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS35184.1	764	RADIA|MUSE	.	GCGGCTGCGCG	NONE	.	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF260	.	.	ENSP00000360597	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371542	Transcript	.	.	ENSG00000184709	31409	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.43)	.	LRC26_HUMAN	LRRC26	HGNC	.	.	UPI00001D7629	SNV	LRRC26,missense_variant,p.Gln255Arg,ENST00000371542,;GRIN1,downstream_gene_variant,,ENST00000371555,;GRIN1,downstream_gene_variant,,ENST00000371561,;TMEM210,downstream_gene_variant,,ENST00000413619,;GRIN1,downstream_gene_variant,,ENST00000371546,;GRIN1,downstream_gene_variant,,ENST00000315048,;TMEM210,downstream_gene_variant,,ENST00000535352,;GRIN1,downstream_gene_variant,,ENST00000371550,;GRIN1,downstream_gene_variant,,ENST00000350902,;GRIN1,downstream_gene_variant,,ENST00000371559,;GRIN1,downstream_gene_variant,,ENST00000371553,;GRIN1,downstream_gene_variant,,ENST00000371560,;MIR3621,downstream_gene_variant,,ENST00000580529,;RP11-350O14.18,non_coding_transcript_exon_variant,,ENST00000568665,;GRIN1,downstream_gene_variant,,ENST00000473811,;GRIN1,downstream_gene_variant,,ENST00000462584,;GRIN1,downstream_gene_variant,,ENST00000460273,;GRIN1,downstream_gene_variant,,ENST00000471122,;TMEM210,downstream_gene_variant,,ENST00000430332,;TMEM210,downstream_gene_variant,,ENST00000427366,;	872	15	18	SUCCESS
RUSC2	9853	.	GRCh37	9	35555100	35555100	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	60	0	ENST00000361226.3:c.2058A>G	p.Glu686=	p.E686=	ENST00000361226	NM_014806.2	686	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS35008.1	2058	MUSE|VARSCANS	.	AAGGAACAGAG	NONE	.	.	hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14	.	.	ENSP00000393922	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000455600	Transcript	.	.	ENSG00000198853	23625	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RUSC2_HUMAN	RUSC2	HGNC	.	.	UPI00001C1EB0	SNV	RUSC2,synonymous_variant,p.%3D,ENST00000361226,;RUSC2,synonymous_variant,p.%3D,ENST00000455600,;	2627	60	40	SUCCESS
C9orf41	0	.	GRCh37	9	77614715	77614715	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1330979612	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	45	0	ENST00000376834.3:c.662T>C	p.Leu221Pro	p.L221P	ENST00000376834	NM_152420.1	221	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6649.1	662	RADIA|MUSE	.	AACCTAGCATA	NONE	.	.	hmmpanther:PTHR12303:SF6,hmmpanther:PTHR12303,Gene3D:3.40.50.150,Pfam_domain:PF07942,Superfamily_domains:SSF53335	.	.	ENSP00000366030	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000376834	Transcript	.	.	ENSG00000156017	23435	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.934)	.	tolerated(0.13)	.	CI041_HUMAN	C9orf41	HGNC	B4DSD4_HUMAN	.	UPI000006D991	SNV	C9orf41,missense_variant,p.Leu221Pro,ENST00000376834,;C9orf41,missense_variant,p.Leu160Pro,ENST00000451153,;C9orf41,intron_variant,,ENST00000376837,;RP11-197P3.4,downstream_gene_variant,,ENST00000455609,;	815	45	24	SUCCESS
PAK3	5063	.	GRCh37	X	110439078	110439078	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	49	43	0	ENST00000262836.4:c.1164A>T	p.Gln388His	p.Q388H	ENST00000262836	NM_001128173.1	388	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS48151.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAAGCTTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000353864	.	13/16	.	.	.	.	.	.	.	.	COSM1555742,COSM1555741	13/16	PASS	ENST00000360648	Transcript	.	.	ENSG00000077264	8592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.912)	.	tolerated(0.08)	1,1	PAK3_HUMAN	PAK3	HGNC	B1AKS5_HUMAN	.	UPI0000D61DBC	SNV	PAK3,missense_variant,p.Gln388His,ENST00000372010,;PAK3,missense_variant,p.Gln409His,ENST00000360648,;PAK3,missense_variant,p.Gln373His,ENST00000446737,;PAK3,missense_variant,p.Gln373His,ENST00000425146,;PAK3,missense_variant,p.Gln394His,ENST00000417227,;PAK3,missense_variant,p.Gln409His,ENST00000518291,;PAK3,missense_variant,p.Gln388His,ENST00000262836,;PAK3,missense_variant,p.Gln373His,ENST00000372007,;PAK3,missense_variant,p.Gln394His,ENST00000519681,;	1254	43	57	SUCCESS
PTCHD1	139411	.	GRCh37	X	23411906	23411906	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	67	61	0	ENST00000379361.4:c.2271A>T	p.Leu757Phe	p.L757F	ENST00000379361	NM_173495.2	757	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS35215.2	2271	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTAATTTA	NONE	.	.	Superfamily_domains:SSF82866,Pfam_domain:PF02460,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36,Transmembrane_helices:TMhelix	.	.	ENSP00000368666	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379361	Transcript	.	.	ENSG00000165186	26392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PTHD1_HUMAN	PTCHD1	HGNC	.	.	UPI000059DAD8	SNV	PTCHD1,missense_variant,p.Leu757Phe,ENST00000379361,;PTCHD1,downstream_gene_variant,,ENST00000456522,;	3131	62	77	SUCCESS
CPN1	1369	.	GRCh37	10	101825001	101825001	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs766161490	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	42	0	ENST00000370418.3:c.703C>T	p.Arg235Ter	p.R235*	ENST00000370418	NM_001308.2	235	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS7486.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGGACCC	NONE	.	.	hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000359446	.	4/9	.	.	.	.	.	.	.	.	rs766161490,COSM1702898	4/9	PASS	ENST00000370418	Transcript	1	.	ENSG00000120054	2312	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CBPN_HUMAN	CPN1	HGNC	B1AP59_HUMAN,B1AP58_HUMAN	.	UPI00000012AC	SNV	CPN1,stop_gained,p.Arg235Ter,ENST00000370418,;CPN1,stop_gained,p.Arg32Ter,ENST00000441382,;	955	42	28	SUCCESS
SEC31B	25956	.	GRCh37	10	102250534	102250534	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	39	0	ENST00000370345.3:c.2579A>G	p.Asn860Ser	p.N860S	ENST00000370345	NM_015490.3	860	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS7495.1	2579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATATTCTGT	NONE	.	.	hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	.	.	ENSP00000359370	.	20/26	.	.	.	.	.	.	.	.	COSM4165367	20/26	PASS	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.006)	.	tolerated(0.46)	1	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,missense_variant,p.Asn860Ser,ENST00000370345,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,upstream_gene_variant,,ENST00000485800,;SEC31B,upstream_gene_variant,,ENST00000492667,;SEC31B,downstream_gene_variant,,ENST00000484848,;	2677	39	25	SUCCESS
TCF7L2	6934	.	GRCh37	10	114910795	114910795	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	97	0	ENST00000543371.1:c.914A>T	p.His305Leu	p.H305L	ENST00000543371	NM_001198531.1	305	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS53577.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACACACGA	NONE	.	.	hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32	.	.	ENSP00000444972	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000543371	Transcript	1	.	ENSG00000148737	11641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TF7L2_HUMAN	TCF7L2	HGNC	E2GH26_HUMAN,C6ZRJ8_HUMAN	.	UPI000002B4A6	SNV	TCF7L2,missense_variant,p.His305Leu,ENST00000538897,;TCF7L2,missense_variant,p.His21Leu,ENST00000542695,;TCF7L2,missense_variant,p.His22Leu,ENST00000277945,;TCF7L2,missense_variant,p.His16Leu,ENST00000369389,;TCF7L2,missense_variant,p.His305Leu,ENST00000534894,;TCF7L2,missense_variant,p.His305Leu,ENST00000543371,;TCF7L2,missense_variant,p.His305Leu,ENST00000545257,;TCF7L2,missense_variant,p.His305Leu,ENST00000355995,;TCF7L2,missense_variant,p.His305Leu,ENST00000536810,;TCF7L2,missense_variant,p.His282Leu,ENST00000352065,;TCF7L2,missense_variant,p.His329Leu,ENST00000355717,;TCF7L2,missense_variant,p.His282Leu,ENST00000369397,;TCF7L2,downstream_gene_variant,,ENST00000349937,;TCF7L2,downstream_gene_variant,,ENST00000369395,;TCF7L2,upstream_gene_variant,,ENST00000369386,;TCF7L2,upstream_gene_variant,,ENST00000466338,;TCF7L2,upstream_gene_variant,,ENST00000480888,;TCF7L2,upstream_gene_variant,,ENST00000470254,;	1421	97	81	SUCCESS
STAM	8027	.	GRCh37	10	17730065	17730065	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	101	0	ENST00000377524.3:c.337G>A	p.Val113Ile	p.V113I	ENST00000377524	NM_003473.3	113	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS7122.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGGTTGAA	NONE	.	.	PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF26,hmmpanther:PTHR13856,Pfam_domain:PF00790,Gene3D:1.25.40.90,SMART_domains:SM00288,Superfamily_domains:SSF48464	.	.	ENSP00000366746	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000377524	Transcript	.	.	ENSG00000136738	11357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	deleterious(0.05)	.	STAM1_HUMAN	STAM	HGNC	C9J1E5_HUMAN,B4DZT2_HUMAN,A6NMU3_HUMAN	.	UPI000006E278	SNV	STAM,missense_variant,p.Val113Ile,ENST00000377524,;STAM,missense_variant,p.Val2Ile,ENST00000540523,;STAM,missense_variant,p.Val2Ile,ENST00000377500,;STAM,3_prime_UTR_variant,,ENST00000445846,;STAM,non_coding_transcript_exon_variant,,ENST00000486183,;	552	101	80	SUCCESS
SVIL	6840	.	GRCh37	10	29818698	29818698	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757759541	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	55	0	ENST00000355867.4:c.2182C>T	p.Arg728Cys	p.R728C	ENST00000355867	NM_021738.2	728	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS7164.1	2182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCGTAGCC	NONE	byFrequency	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28	.	.	ENSP00000364547	.	14/40	.	.	.	.	.	.	.	.	rs757759541	14/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Arg728Cys,ENST00000355867,;SVIL,missense_variant,p.Arg334Cys,ENST00000375400,;SVIL,missense_variant,p.Arg728Cys,ENST00000375398,;	2632	55	54	SUCCESS
TECTA	7007	.	GRCh37	11	121036027	121036027	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	34	197	0	ENST00000264037.2:c.5318G>T	p.Arg1773Leu	p.R1773L	ENST00000264037	NM_005422.2	1773	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS8434.1	5318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCGAACTT	NONE	.	.	hmmpanther:PTHR11339	.	.	ENSP00000376543	.	17/24	.	.	.	.	.	.	.	.	COSM1731348	17/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.115)	.	tolerated(0.24)	1	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Arg1773Leu,ENST00000264037,;TECTA,missense_variant,p.Arg1773Leu,ENST00000392793,;	5589	197	188	SUCCESS
OR10G7	390265	.	GRCh37	11	123909699	123909699	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764931043	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	38	173	0	ENST00000330487.5:c.10G>A	p.Ala4Thr	p.A4T	ENST00000330487	NM_001004463.1	4	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31705.1	10	RADIA|MUTECT|MUSE	.	GGTGGCGTTGG	NONE	byFrequency	.	hmmpanther:PTHR26453:SF7,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000329689	.	1/1	.	.	.	.	.	.	.	.	rs764931043	1/1	PASS	ENST00000330487	Transcript	.	.	ENSG00000182634	14842	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.41)	.	O10G7_HUMAN	OR10G7	HGNC	.	.	UPI0000040A84	SNV	OR10G7,missense_variant,p.Ala4Thr,ENST00000330487,;	19	173	101	SUCCESS
ACCS	84680	.	GRCh37	11	44096174	44096174	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs752846711	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	47	0	ENST00000263776.8:c.432A>C	p.Glu144Asp	p.E144D	ENST00000263776	NM_032592.3	144	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS7907.1	432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAAGTGGC	NONE	.	.	hmmpanther:PTHR11751:SF276,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000263776	.	5/15	.	.	.	.	.	.	.	.	rs752846711	5/15	PASS	ENST00000263776	Transcript	.	.	ENSG00000110455	23989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	1A1L1_HUMAN	ACCS	HGNC	E9PS61_HUMAN,E9PRT9_HUMAN	.	UPI000006D45A	SNV	ACCS,missense_variant,p.Ser121Arg,ENST00000432284,;ACCS,missense_variant,p.Glu144Asp,ENST00000263776,;ACCS,downstream_gene_variant,,ENST00000524990,;CTD-2609K8.3,downstream_gene_variant,,ENST00000531268,;ACCS,non_coding_transcript_exon_variant,,ENST00000533208,;ACCS,non_coding_transcript_exon_variant,,ENST00000526577,;ACCS,non_coding_transcript_exon_variant,,ENST00000527603,;ACCS,upstream_gene_variant,,ENST00000531190,;ACCS,upstream_gene_variant,,ENST00000527346,;ACCS,upstream_gene_variant,,ENST00000531940,;ACCS,upstream_gene_variant,,ENST00000532122,;ACCS,upstream_gene_variant,,ENST00000527557,;	866	47	41	SUCCESS
C11orf80	79703	.	GRCh37	11	66568539	66568539	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749060869	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	16	81	0	ENST00000525908.1:c.664A>G	p.Ile222Val	p.I222V	ENST00000525908		222	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS53664.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAATTGCT	NONE	byFrequency	.	Pfam_domain:PF15091,hmmpanther:PTHR14652	.	.	ENSP00000354227	.	8/17	.	.	.	.	.	.	.	.	rs749060869	8/17	PASS	ENST00000360962	Transcript	.	.	ENSG00000173715	26197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	tolerated(0.09)	.	CK080_HUMAN	C11orf80	HGNC	E9PIE7_HUMAN	.	UPI0001711D28	SNV	C11orf80,missense_variant,p.Ile271Val,ENST00000360962,;C11orf80,missense_variant,p.Ile52Val,ENST00000524551,;C11orf80,missense_variant,p.Ile52Val,ENST00000532565,;C11orf80,missense_variant,p.Ile116Val,ENST00000525449,;C11orf80,missense_variant,p.Ile52Val,ENST00000527634,;C11orf80,missense_variant,p.Ile222Val,ENST00000525908,;C11orf80,missense_variant,p.Ile105Val,ENST00000540737,;C11orf80,missense_variant,p.Ile116Val,ENST00000346672,;C11orf80,intron_variant,,ENST00000532089,;C11orf80,downstream_gene_variant,,ENST00000527368,;C11orf80,missense_variant,p.Ile97Val,ENST00000526260,;C11orf80,3_prime_UTR_variant,,ENST00000531400,;C11orf80,3_prime_UTR_variant,,ENST00000532727,;C11orf80,non_coding_transcript_exon_variant,,ENST00000527352,;	818	81	89	SUCCESS
FOLR2	2350	.	GRCh37	11	71932083	71932083	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	59	0	ENST00000298223.6:c.320T>A	p.Leu107Gln	p.L107Q	ENST00000298223	NM_001113535.1	107	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8212.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGGGGC	NONE	.	.	Pfam_domain:PF03024,hmmpanther:PTHR10517,hmmpanther:PTHR10517:SF8	.	.	ENSP00000298223	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000298223	Transcript	.	.	ENSG00000165457	3793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FOLR2_HUMAN	FOLR2	HGNC	Q6GTE8_HUMAN,Q05CA5_HUMAN,F5H4Z6_HUMAN	.	UPI000013E4AD	SNV	FOLR2,missense_variant,p.Leu107Gln,ENST00000298223,;FOLR2,missense_variant,p.Leu122Gln,ENST00000536778,;FOLR2,missense_variant,p.Leu66Gln,ENST00000454954,;FOLR2,missense_variant,p.Leu107Gln,ENST00000538353,;FOLR2,missense_variant,p.Leu118Gln,ENST00000539412,;FOLR2,missense_variant,p.Leu107Gln,ENST00000535625,;FOLR2,missense_variant,p.Leu120Gln,ENST00000321324,;FOLR2,missense_variant,p.Leu124Gln,ENST00000449475,;INPPL1,upstream_gene_variant,,ENST00000540973,;FOLR2,downstream_gene_variant,,ENST00000541003,;INPPL1,upstream_gene_variant,,ENST00000298229,;INPPL1,upstream_gene_variant,,ENST00000541756,;INPPL1,upstream_gene_variant,,ENST00000543234,;INPPL1,upstream_gene_variant,,ENST00000541544,;	507	59	56	SUCCESS
INPPL1	3636	.	GRCh37	11	71944787	71944787	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs1168735661	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	78	0	ENST00000298229.2:c.2211A>G		p.X737_splice	ENST00000298229	NM_001567.3	737	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS8213.1	2211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAAGGTGA	NONE	.	.	Gene3D:3.60.10.10,hmmpanther:PTHR11200:SF15,hmmpanther:PTHR11200	.	.	ENSP00000298229	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000298229	Transcript	.	.	ENSG00000165458	6080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHIP2_HUMAN	INPPL1	HGNC	H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN	.	UPI000013E4AF	SNV	INPPL1,synonymous_variant,p.%3D,ENST00000538751,;INPPL1,synonymous_variant,p.%3D,ENST00000298229,;INPPL1,synonymous_variant,p.%3D,ENST00000541756,;INPPL1,upstream_gene_variant,,ENST00000541752,;INPPL1,downstream_gene_variant,,ENST00000540329,;INPPL1,upstream_gene_variant,,ENST00000320683,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,missense_variant,p.Lys22Arg,ENST00000535985,;INPPL1,splice_region_variant,,ENST00000541303,;INPPL1,splice_region_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000538339,;INPPL1,downstream_gene_variant,,ENST00000537755,;INPPL1,downstream_gene_variant,,ENST00000544806,;INPPL1,downstream_gene_variant,,ENST00000542295,;	2415	78	57	SUCCESS
NOX4	50507	.	GRCh37	11	89133229	89133229	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753794405	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	12	116	0	ENST00000263317.4:c.1030C>G	p.Pro344Ala	p.P344A	ENST00000263317		344	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS8285.1	1030	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGACAAT	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972,Pfam_domain:PF08022,Gene3D:2.40.30.10,Superfamily_domains:SSF63380	.	.	ENSP00000263317	.	11/18	.	.	.	.	.	.	.	.	rs753794405	11/18	PASS	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,missense_variant,p.Pro178Ala,ENST00000527626,;NOX4,missense_variant,p.Pro320Ala,ENST00000535633,;NOX4,missense_variant,p.Pro344Ala,ENST00000534731,;NOX4,missense_variant,p.Pro344Ala,ENST00000263317,;NOX4,missense_variant,p.Pro320Ala,ENST00000527956,;NOX4,missense_variant,p.Pro320Ala,ENST00000542487,;NOX4,missense_variant,p.Pro319Ala,ENST00000528341,;NOX4,missense_variant,p.Pro320Ala,ENST00000343727,;NOX4,missense_variant,p.Pro365Ala,ENST00000413594,;NOX4,missense_variant,p.Pro320Ala,ENST00000532825,;NOX4,missense_variant,p.Pro320Ala,ENST00000424319,;NOX4,intron_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000525196,;NOX4,intron_variant,,ENST00000529343,;	1269	117	113	SUCCESS
KIAA1033	0	.	GRCh37	12	105519876	105519876	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs190039477	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	36	153	0	ENST00000332180.5:c.881C>G	p.Ser294Ter	p.S294*	ENST00000332180	NM_015275.1	294	tCa/tGa	0	T:0.0003	T:0	.	T:0	.	G	S/*	protein_coding	YES	CCDS41826.1	881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTCAATTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14745	T:0.001	T:0	ENSP00000328062	T:0	11/33	.	.	.	.	.	.	.	.	rs190039477	11/33	PASS	ENST00000332180	Transcript	.	T:0.0002	ENSG00000136051	29174	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	SNV	KIAA1033,stop_gained,p.Ser294Ter,ENST00000332180,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,downstream_gene_variant,,ENST00000547404,;	968	153	108	SUCCESS
DNAH10	196385	.	GRCh37	12	124383209	124383209	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs992495890	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	41	0	ENST00000409039.3:c.9134A>G	p.Lys3045Arg	p.K3045R	ENST00000409039	NM_207437.3	3045	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9255.2	9134	MUTECT|MUSE	.	GTGCAAGCGTC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	55/78	.	.	.	.	.	.	.	.	.	55/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Lys3045Arg,ENST00000409039,;	9159	41	33	SUCCESS
NACA	4666	.	GRCh37	12	57113603	57113603	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	10	119	0	ENST00000356769.3:c.70+4633C>A		p.*24*	ENST00000356769	NM_001113202.1	571		0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS44925.2	1711	MUTECT|MUSE|VARSCANS	.	AGAAGGGGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21713:SF3,hmmpanther:PTHR21713	.	.	ENSP00000448035	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.803)	.	deleterious_low_confidence(0)	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,missense_variant,p.Pro571Thr,ENST00000550952,;NACA,missense_variant,p.Pro571Thr,ENST00000454682,;NACA,intron_variant,,ENST00000546862,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000356769,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000549855,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551793,;NACA,intron_variant,,ENST00000548084,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000551520,;	1750	119	107	SUCCESS
DPY19L2	283417	.	GRCh37	12	63977820	63977820	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	44	0	ENST00000324472.4:c.1581-204G>T		p.*527*	ENST00000324472	NM_173812.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31851.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTCAAGAT	NONE	.	.	.	.	.	ENSP00000315988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324472	Transcript	.	.	ENSG00000177990	19414	.	.	MODIFIER	16/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	D19L2_HUMAN	DPY19L2	HGNC	F5H4G6_HUMAN,F5H1L7_HUMAN,B4E191_HUMAN	.	UPI000006EC0C	SNV	DPY19L2,5_prime_UTR_variant,,ENST00000413230,;DPY19L2,intron_variant,,ENST00000324472,;DPY19L2,intron_variant,,ENST00000439061,;	.	44	33	SUCCESS
LAMP1	3916	.	GRCh37	13	113960890	113960890	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	46	77	0	ENST00000332556.4:c.152C>T	p.Ser51Leu	p.S51L	ENST00000332556	NM_005561.3	51	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS41909.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCAGTGA	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF27,PROSITE_patterns:PS00310	.	.	ENSP00000333298	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000332556	Transcript	.	.	ENSG00000185896	6499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.75)	.	LAMP1_HUMAN	LAMP1	HGNC	B3KRY3_HUMAN	.	UPI0000072D40	SNV	LAMP1,missense_variant,p.Ser51Leu,ENST00000332556,;LAMP1,missense_variant,p.Ser51Leu,ENST00000397181,;LAMP1,non_coding_transcript_exon_variant,,ENST00000472564,;	346	77	79	SUCCESS
IFT43	112752	.	GRCh37	14	76548963	76548963	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	56	0	ENST00000314067.6:c.372C>A	p.Ile124=	p.I124=	ENST00000314067	NM_001102564.1	124	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9847.1	387	RADIA|MUTECT|MUSE	.	AGCATCCAGAT	NONE	.	.	Pfam_domain:PF15305	.	.	ENSP00000238628	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000238628	Transcript	.	.	ENSG00000119650	29669	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFT43_HUMAN	IFT43	HGNC	.	.	UPI000013F70B	SNV	IFT43,synonymous_variant,p.%3D,ENST00000314067,;IFT43,synonymous_variant,p.%3D,ENST00000238628,;IFT43,non_coding_transcript_exon_variant,,ENST00000553438,;IFT43,synonymous_variant,p.%3D,ENST00000542766,;IFT43,non_coding_transcript_exon_variant,,ENST00000554026,;IFT43,non_coding_transcript_exon_variant,,ENST00000555305,;	392	56	42	SUCCESS
CEP128	145508	.	GRCh37	14	81251620	81251620	+	synonymous_variant	Silent	SNP	A	A	C	rs1399947641	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	15	191	0	ENST00000281129.3:c.1830T>G	p.Ala610=	p.A610=	ENST00000281129	NM_152446.3	610	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS32130.1	1830	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGAGCTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	.	.	ENSP00000451162	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000555265	Transcript	.	.	ENSG00000100629	20359	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE128_HUMAN	CEP128	HGNC	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN	.	UPI000022982E	SNV	CEP128,synonymous_variant,p.%3D,ENST00000555265,;CEP128,synonymous_variant,p.%3D,ENST00000281129,;CEP128,synonymous_variant,p.%3D,ENST00000554502,;	2206	191	136	SUCCESS
LINS	0	.	GRCh37	15	101112222	101112222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	41	0	ENST00000314742.8:c.1271A>T	p.His424Leu	p.H424L	ENST00000314742	NM_001040616.2	424	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS10385.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATGAGGC	NONE	.	.	Pfam_domain:PF14694,hmmpanther:PTHR16057:SF1,hmmpanther:PTHR16057	.	.	ENSP00000318423	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000314742	Transcript	1	.	ENSG00000140471	30922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	LINES_HUMAN	LINS	HGNC	H3BNS6_HUMAN,H0YMQ0_HUMAN,H0YMK4_HUMAN,H0YM78_HUMAN,H0YKU3_HUMAN	.	UPI000013D795	SNV	LINS,missense_variant,p.His424Leu,ENST00000314742,;LINS,downstream_gene_variant,,ENST00000559736,;LINS,downstream_gene_variant,,ENST00000561308,;LINS,downstream_gene_variant,,ENST00000560133,;LINS,downstream_gene_variant,,ENST00000560941,;LINS,downstream_gene_variant,,ENST00000559577,;LINS,upstream_gene_variant,,ENST00000561233,;LINS,downstream_gene_variant,,ENST00000561073,;LINS,downstream_gene_variant,,ENST00000559149,;LINS,non_coding_transcript_exon_variant,,ENST00000559169,;LINS,intron_variant,,ENST00000560783,;	1494	41	35	SUCCESS
RYR3	6263	.	GRCh37	15	33936690	33936690	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	42	76	0	ENST00000389232.4:c.3735C>A	p.Val1245=	p.V1245=	ENST00000389232	NM_001036.3	1245	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45210.1	3735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTCAACGT	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	28/104	.	.	.	.	.	.	.	.	.	28/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,synonymous_variant,p.%3D,ENST00000389232,;RYR3,synonymous_variant,p.%3D,ENST00000415757,;	3805	76	102	SUCCESS
DISP2	85455	.	GRCh37	15	40660976	40660976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	43	0	ENST00000267889.3:c.2663A>T	p.Gln888Leu	p.Q888L	ENST00000267889	NM_033510.1	888	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10056.1	2663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAGGACC	NONE	.	.	hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.72)	.	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,missense_variant,p.Gln888Leu,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	2750	43	38	SUCCESS
MAP1A	4130	.	GRCh37	15	43815176	43815176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	112	0	ENST00000300231.5:c.1505C>T	p.Pro502Leu	p.P502L	ENST00000300231		502	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42031.1	1505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCCCAGA	NONE	.	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,missense_variant,p.Pro502Leu,ENST00000399453,;MAP1A,missense_variant,p.Pro502Leu,ENST00000300231,;MAP1A,missense_variant,p.Pro740Leu,ENST00000382031,;	1955	112	109	SUCCESS
MYZAP	100820829	.	GRCh37	15	57953696	57953696	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	34	130	0	ENST00000267853.5:c.1168C>G	p.Gln390Glu	p.Q390E	ENST00000267853		390	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS32247.1	1168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCAGCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF2,Pfam_domain:PF15328	.	.	ENSP00000369943	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000380569	Transcript	.	.	ENSG00000137878	26424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.52)	.	.	GCOM1	HGNC	.	.	UPI0000375B72	SNV	GCOM1,missense_variant,p.Gln321Glu,ENST00000380560,;MYZAP,missense_variant,p.Gln390Glu,ENST00000267853,;GCOM1,missense_variant,p.Gln390Glu,ENST00000380568,;GCOM1,missense_variant,p.Gln359Glu,ENST00000396180,;GCOM1,missense_variant,p.Gln390Glu,ENST00000587652,;GCOM1,missense_variant,p.Gln390Glu,ENST00000574161,;MYZAP,missense_variant,p.Gln105Glu,ENST00000461709,;GCOM1,missense_variant,p.Gln390Glu,ENST00000380569,;POLR2M,5_prime_UTR_variant,,ENST00000380563,;GCOM1,intron_variant,,ENST00000572390,;MYZAP,intron_variant,,ENST00000380565,;GCOM1,intron_variant,,ENST00000380561,;GCOM1,missense_variant,p.Gln359Glu,ENST00000468886,;GCOM1,missense_variant,p.Gln390Glu,ENST00000463717,;GCOM1,missense_variant,p.Gln390Glu,ENST00000488175,;GCOM1,missense_variant,p.Gln321Glu,ENST00000471563,;GCOM1,missense_variant,p.Gln390Glu,ENST00000482814,;GCOM1,3_prime_UTR_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000460962,;GCOM1,intron_variant,,ENST00000496101,;GCOM1,intron_variant,,ENST00000477282,;	1295	130	149	SUCCESS
MYO1E	4643	.	GRCh37	15	59502718	59502718	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	30	117	0	ENST00000288235.4:c.1357A>C	p.Lys453Gln	p.K453Q	ENST00000288235	NM_004998.3	453	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS32254.1	1357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTGTTCT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000288235	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Lys173Gln,ENST00000559489,;MYO1E,missense_variant,p.Lys453Gln,ENST00000288235,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,upstream_gene_variant,,ENST00000560749,;LDHAL6B,downstream_gene_variant,,ENST00000307144,;RNU4-80P,downstream_gene_variant,,ENST00000363200,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,upstream_gene_variant,,ENST00000560642,;	1757	117	92	SUCCESS
FOXB1	27023	.	GRCh37	15	60297165	60297165	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	42	1	ENST00000396057.4:c.3G>T	p.Met1?	p.M1?	ENST00000396057	NM_012182.2	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS32255.1	3	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGCCTCG	NONE	.	.	hmmpanther:PTHR11829:SF126,hmmpanther:PTHR11829	.	.	ENSP00000379369	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396057	Transcript	.	.	ENSG00000171956	3799	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	FOXB1_HUMAN	FOXB1	HGNC	.	.	UPI000013EBBD	SNV	FOXB1,start_lost,p.Met1?,ENST00000396057,;FOXB1,intron_variant,,ENST00000560857,;	482	43	51	SUCCESS
CLPX	10845	.	GRCh37	15	65443162	65443162	+	stop_retained_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	54	0	ENST00000300107.3:c.1901A>G	p.Ter634=	p.*634=	ENST00000300107	NM_006660.3	634	tAa/tGa	0	.	.	.	.	.	C	*	protein_coding	YES	CCDS10202.1	1901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTAGCTG	NONE	.	.	.	.	.	ENSP00000300107	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000300107	Transcript	.	.	ENSG00000166855	2088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLPX_HUMAN	CLPX	HGNC	H0YK07_HUMAN	.	UPI0000127B73	SNV	CLPX,stop_retained_variant,p.%3D,ENST00000300107,;CLPX,3_prime_UTR_variant,,ENST00000559152,;CLPX,downstream_gene_variant,,ENST00000560166,;	2090	54	31	SUCCESS
NEIL1	79661	.	GRCh37	15	75641492	75641492	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	17	0	ENST00000355059.4:c.246C>T	p.Ser82=	p.S82=	ENST00000355059	NM_024608.3	82	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10278.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	ATGTCCGGCTC	NONE	.	.	PROSITE_profiles:PS51068,hmmpanther:PTHR22993,Pfam_domain:PF01149,Gene3D:1ee8A01,SMART_domains:SM00898,Superfamily_domains:SSF81624	.	.	ENSP00000457352	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000564784	Transcript	.	.	ENSG00000140398	18448	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEIL1_HUMAN	NEIL1	HGNC	H3BU98_HUMAN,H3BTX5_HUMAN,H3BT94_HUMAN,H3BST2_HUMAN,H3BRZ2_HUMAN,H3BQU8_HUMAN,H3BQE8_HUMAN,H3BN83_HUMAN	.	UPI000013D787	SNV	NEIL1,synonymous_variant,p.%3D,ENST00000569506,;NEIL1,synonymous_variant,p.%3D,ENST00000564257,;NEIL1,synonymous_variant,p.%3D,ENST00000355059,;NEIL1,synonymous_variant,p.%3D,ENST00000564784,;NEIL1,synonymous_variant,p.%3D,ENST00000565051,;NEIL1,synonymous_variant,p.%3D,ENST00000567657,;NEIL1,synonymous_variant,p.%3D,ENST00000567005,;NEIL1,synonymous_variant,p.%3D,ENST00000568059,;NEIL1,synonymous_variant,p.%3D,ENST00000569035,;NEIL1,downstream_gene_variant,,ENST00000566313,;NEIL1,downstream_gene_variant,,ENST00000566752,;NEIL1,downstream_gene_variant,,ENST00000564500,;NEIL1,downstream_gene_variant,,ENST00000568881,;MIR631,downstream_gene_variant,,ENST00000384904,;NEIL1,intron_variant,,ENST00000567959,;NEIL1,downstream_gene_variant,,ENST00000567681,;NEIL1,downstream_gene_variant,,ENST00000569390,;NEIL1,synonymous_variant,p.%3D,ENST00000568519,;NEIL1,non_coding_transcript_exon_variant,,ENST00000564738,;NEIL1,non_coding_transcript_exon_variant,,ENST00000561643,;NEIL1,non_coding_transcript_exon_variant,,ENST00000564951,;NEIL1,upstream_gene_variant,,ENST00000565121,;NEIL1,upstream_gene_variant,,ENST00000567393,;NEIL1,upstream_gene_variant,,ENST00000567547,;	875	17	14	SUCCESS
PKD1	5310	.	GRCh37	16	2158258	2158258	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	25	0	ENST00000262304.4:c.6910A>G	p.Thr2304Ala	p.T2304A	ENST00000262304	NM_001009944.2	2304	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32369.1	6910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTCGAAG	NONE	.	.	PROSITE_profiles:PS51111,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Pfam_domain:PF02010,TIGRFAM_domain:TIGR00864	.	.	ENSP00000262304	.	15/46	.	.	.	.	.	.	.	.	.	15/46	PASS	ENST00000262304	Transcript	.	.	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Thr2304Ala,ENST00000262304,;PKD1,missense_variant,p.Thr2304Ala,ENST00000423118,;PKD1,missense_variant,p.Asp192Gly,ENST00000488185,;PKD1,intron_variant,,ENST00000483024,;PKD1,upstream_gene_variant,,ENST00000567946,;RP11-304L19.4,upstream_gene_variant,,ENST00000568795,;PKD1,non_coding_transcript_exon_variant,,ENST00000473780,;PKD1,downstream_gene_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000564865,;PKD1,upstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,upstream_gene_variant,,ENST00000475889,;PKD1,missense_variant,p.Thr533Ala,ENST00000487932,;PKD1,intron_variant,,ENST00000568591,;PKD1,intron_variant,,ENST00000565639,;PKD1,intron_variant,,ENST00000415938,;PKD1,intron_variant,,ENST00000483731,;PKD1,intron_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000486339,;PKD1,upstream_gene_variant,,ENST00000496574,;PKD1,downstream_gene_variant,,ENST00000469241,;PKD1,upstream_gene_variant,,ENST00000564890,;PKD1,upstream_gene_variant,,ENST00000562297,;PKD1,upstream_gene_variant,,ENST00000480227,;PKD1,upstream_gene_variant,,ENST00000471603,;	7119	25	21	SUCCESS
SH2B1	25970	.	GRCh37	16	28877683	28877683	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	36	0	ENST00000322610.8:c.268C>A	p.Pro90Thr	p.P90T	ENST00000322610		90	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS53996.1	268	MUTECT|MUSE	.	CGCCACCCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10872:SF3,hmmpanther:PTHR10872	.	.	ENSP00000321221	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000322610	Transcript	.	.	ENSG00000178188	30417	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.214)	.	tolerated(0.33)	.	SH2B1_HUMAN	SH2B1	HGNC	H3BVF6_HUMAN,H3BTK4_HUMAN	.	UPI00001AF36C	SNV	SH2B1,missense_variant,p.Pro90Thr,ENST00000395532,;SH2B1,missense_variant,p.Pro90Thr,ENST00000322610,;SH2B1,missense_variant,p.Pro90Thr,ENST00000359285,;SH2B1,missense_variant,p.Pro90Thr,ENST00000337120,;SH2B1,intron_variant,,ENST00000545570,;SH2B1,intron_variant,,ENST00000538342,;SH2B1,intron_variant,,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000566176,;SH2B1,downstream_gene_variant,,ENST00000563591,;SH2B1,upstream_gene_variant,,ENST00000561629,;SH2B1,downstream_gene_variant,,ENST00000566209,;RP11-22P6.2,upstream_gene_variant,,ENST00000567731,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,upstream_gene_variant,,ENST00000569471,;	707	36	43	SUCCESS
BCKDK	10295	.	GRCh37	16	31121012	31121012	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	69	0	ENST00000219794.6:c.283del	p.Gln95SerfsTer6	p.Q95Sfs*6	ENST00000219794	NM_005881.3	95	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS10705.1	283	INDELOCATOR*|VARSCANI*|PINDEL	.	TACCTGCAGCAA	NONE	.	.	hmmpanther:PTHR11947:SF20,hmmpanther:PTHR11947,Pfam_domain:PF10436,Gene3D:1.20.140.20,Superfamily_domains:SSF69012	.	.	ENSP00000378405	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000394951	Transcript	.	.	ENSG00000103507	16902	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BCKD_HUMAN	BCKDK	HGNC	H3BQP2_HUMAN,H3BNP3_HUMAN,A8MY43_HUMAN	.	UPI0000126825	deletion	BCKDK,frameshift_variant,p.Gln95SerfsTer6,ENST00000287507,;BCKDK,frameshift_variant,p.Gln95SerfsTer6,ENST00000394951,;BCKDK,frameshift_variant,p.Gln95SerfsTer6,ENST00000484226,;BCKDK,frameshift_variant,p.Gln95SerfsTer6,ENST00000394950,;BCKDK,frameshift_variant,p.Gln95SerfsTer6,ENST00000219794,;BCKDK,downstream_gene_variant,,ENST00000561755,;BCKDK,downstream_gene_variant,,ENST00000567676,;BCKDK,upstream_gene_variant,,ENST00000567682,;AC135050.1,downstream_gene_variant,,ENST00000517000,;BCKDK,frameshift_variant,p.Gln95SerfsTer6,ENST00000567530,;BCKDK,non_coding_transcript_exon_variant,,ENST00000566568,;	906	69	82	SUCCESS
PKD1L2	114780	.	GRCh37	16	81190514	81190514	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375813573	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	55	0	ENST00000525539.1:c.4075G>A	p.Val1359Met	p.V1359M	ENST00000525539	NM_052892.3	1359	Gtg/Atg	0	A:0	T:0.0008	.	T:0	.	T	.	retained_intron	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCACGTAGA	NONE	byCluster|by1000G	.	.	T:0	A:0.0001	.	T:0	14/25	.	.	.	.	.	.	.	.	rs375813573	14/25	PASS	ENST00000299598	Transcript	.	T:0.0002	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	PKD1L2	HGNC	.	.	.	SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,intron_variant,,ENST00000529079,;PKD1L2,missense_variant,p.Val1359Met,ENST00000525539,;PKD1L2,missense_variant,p.Val674Met,ENST00000533478,;	3472	55	40	SUCCESS
ANKRD11	29123	.	GRCh37	16	89352532	89352532	+	synonymous_variant	Silent	SNP	C	C	T	rs149525788	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	31	0	ENST00000301030.4:c.807G>A	p.Thr269=	p.T269=	ENST00000301030	NM_001256183.1	269	acG/acA	0	G:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS32513.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCGTCTC	NONE	byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24145,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	G:0	ENSP00000301030	.	8/13	.	.	.	.	.	.	.	.	rs149525788	8/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,synonymous_variant,p.%3D,ENST00000301030,;ANKRD11,synonymous_variant,p.%3D,ENST00000378330,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000564553,;	1268	31	20	SUCCESS
COX10	1352	.	GRCh37	17	13980195	13980195	+	synonymous_variant	Silent	SNP	A	A	G	rs1405019605	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	144	0	ENST00000261643.3:c.321A>G	p.Leu107=	p.L107=	ENST00000261643	NM_001303.3	107	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11166.1	321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTATCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11048,hmmpanther:PTHR11048:SF3,PIRSF_domain:PIRSF001773	.	.	ENSP00000261643	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000261643	Transcript	.	.	ENSG00000006695	2260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COX10_HUMAN	COX10	HGNC	B4DFR1_HUMAN	.	UPI000013D1C8	SNV	COX10,synonymous_variant,p.%3D,ENST00000261643,;COX10,synonymous_variant,p.%3D,ENST00000429152,;COX10,5_prime_UTR_variant,,ENST00000536205,;COX10,intron_variant,,ENST00000537334,;COX10,synonymous_variant,p.%3D,ENST00000581931,;COX10,intron_variant,,ENST00000580561,;	398	144	98	SUCCESS
PSMB6	5694	.	GRCh37	17	4701710	4701710	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752361110	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	53	0	ENST00000270586.3:c.713C>A	p.Pro238His	p.P238H	ENST00000270586	NM_002798.2	238	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS11056.1	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCCGCCT	NONE	byFrequency	.	hmmpanther:PTHR11599:SF46,hmmpanther:PTHR11599	.	.	ENSP00000270586	.	6/6	.	.	.	.	.	.	.	.	rs752361110	6/6	PASS	ENST00000270586	Transcript	.	.	ENSG00000142507	9543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	deleterious_low_confidence(0)	.	PSB6_HUMAN	PSMB6	HGNC	Q6IAT9_HUMAN	.	UPI00001325C3	SNV	PSMB6,missense_variant,p.Pro238His,ENST00000270586,;RP11-81A22.5,downstream_gene_variant,,ENST00000571067,;PSMB6,non_coding_transcript_exon_variant,,ENST00000575643,;PSMB6,downstream_gene_variant,,ENST00000571309,;PSMB6,downstream_gene_variant,,ENST00000575079,;	764	53	34	SUCCESS
DGKE	8526	.	GRCh37	17	54925299	54925299	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	49	0	ENST00000284061.3:c.761A>G	p.Lys254Arg	p.K254R	ENST00000284061	NM_003647.2	254	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11590.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTAAAACTC	NONE	.	.	Superfamily_domains:SSF111331,SMART_domains:SM00046,Pfam_domain:PF00781,hmmpanther:PTHR11255:SF39,hmmpanther:PTHR11255,PROSITE_profiles:PS50146	.	.	ENSP00000284061	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000284061	Transcript	.	.	ENSG00000153933	2852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.1)	.	DGKE_HUMAN	DGKE	HGNC	A1L4Q0_HUMAN	.	UPI000012DD1F	SNV	DGKE,missense_variant,p.Lys198Arg,ENST00000572944,;DGKE,missense_variant,p.Lys254Arg,ENST00000284061,;DGKE,downstream_gene_variant,,ENST00000576869,;DGKE,downstream_gene_variant,,ENST00000571084,;	941	49	50	SUCCESS
CLTC	1213	.	GRCh37	17	57758348	57758348	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	40	128	0	ENST00000269122.3:c.2995G>C	p.Asp999His	p.D999H	ENST00000269122	NM_004859.3	999	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS32696.1	2995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGACCTT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Asp999His,ENST00000269122,;CLTC,missense_variant,p.Asp999His,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,upstream_gene_variant,,ENST00000475458,;CLTC,upstream_gene_variant,,ENST00000472651,;PTRH2,intron_variant,,ENST00000587935,;CLTC,downstream_gene_variant,,ENST00000579815,;CLTC,upstream_gene_variant,,ENST00000496076,;	3269	128	131	SUCCESS
TANC2	26115	.	GRCh37	17	61476233	61476233	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	121	0	ENST00000424789.2:c.3067C>T	p.Arg1023Ter	p.R1023*	ENST00000424789	NM_025185.3	1023	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS45754.1	3067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGCGAGCA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000387593	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,stop_gained,p.Arg1023Ter,ENST00000389520,;TANC2,stop_gained,p.Arg1023Ter,ENST00000424789,;TANC2,stop_gained,p.Arg952Ter,ENST00000583356,;TANC2,stop_gained,p.Arg80Ter,ENST00000583016,;AC015923.1,intron_variant,,ENST00000431604,;RP11-269G24.3,intron_variant,,ENST00000583552,;TANC2,downstream_gene_variant,,ENST00000581143,;	3071	121	129	SUCCESS
EIF5A	1984	.	GRCh37	17	7213030	7213030	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769669056	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	16	50	0	ENST00000336458.8:c.76C>T	p.Arg26Cys	p.R26C	ENST00000336458	NM_001970.4	26	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS45601.1	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTACGTAAG	SITE|p.R26C|c.76C>T|4,SITE|p.R56C|c.166C>T|3	.	.	hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,Gene3D:2.30.30.30,TIGRFAM_domain:TIGR00037,PIRSF_domain:PIRSF003025,Superfamily_domains:SSF50104	.	.	ENSP00000336702	.	2/6	.	.	.	.	.	.	.	.	rs769669056,COSM364410,COSM1293693	2/6	PASS	ENST00000336452	Transcript	.	.	ENSG00000132507	3300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.105)	.	deleterious(0.05)	0,1,1	IF5A1_HUMAN	EIF5A	HGNC	I3L397_HUMAN	.	UPI00001B5C0C	SNV	EIF5A,missense_variant,p.Arg26Cys,ENST00000571955,;EIF5A,missense_variant,p.Arg26Cys,ENST00000336458,;EIF5A,missense_variant,p.Arg56Cys,ENST00000336452,;EIF5A,missense_variant,p.Arg26Cys,ENST00000572815,;EIF5A,missense_variant,p.Arg26Cys,ENST00000573542,;EIF5A,missense_variant,p.Arg26Cys,ENST00000576930,;EIF5A,missense_variant,p.Arg26Cys,ENST00000419711,;EIF5A,missense_variant,p.Arg26Cys,ENST00000573714,;EIF5A,missense_variant,p.Arg26Cys,ENST00000416016,;GPS2,downstream_gene_variant,,ENST00000574458,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000380728,;GPS2,downstream_gene_variant,,ENST00000570780,;GPS2,downstream_gene_variant,,ENST00000577040,;GPS2,downstream_gene_variant,,ENST00000391950,;GPS2,downstream_gene_variant,,ENST00000389167,;EIF5A,non_coding_transcript_exon_variant,,ENST00000575001,;EIF5A,non_coding_transcript_exon_variant,,ENST00000355068,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572707,;GPS2,downstream_gene_variant,,ENST00000571098,;GPS2,downstream_gene_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;	214	50	25	SUCCESS
AFMID	125061	.	GRCh37	17	76183502	76183502	+	synonymous_variant	Silent	SNP	G	G	A	rs745962259	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	45	0	ENST00000409257.5:c.51G>A	p.Lys17=	p.K17=	ENST00000409257	NM_001010982.4	17	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS45801.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGATGTC	NONE	.	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF118	.	.	ENSP00000328938	.	1/11	.	.	.	.	.	.	.	.	rs745962259	1/11	PASS	ENST00000327898	Transcript	.	.	ENSG00000183077	20910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KFA_HUMAN	AFMID	HGNC	.	.	UPI000041A994	SNV	AFMID,synonymous_variant,p.%3D,ENST00000586542,;AFMID,synonymous_variant,p.%3D,ENST00000591256,;AFMID,synonymous_variant,p.%3D,ENST00000588800,;AFMID,synonymous_variant,p.%3D,ENST00000327898,;AFMID,synonymous_variant,p.%3D,ENST00000591952,;AFMID,synonymous_variant,p.%3D,ENST00000589256,;AFMID,synonymous_variant,p.%3D,ENST00000409257,;AFMID,5_prime_UTR_variant,,ENST00000586731,;TK1,upstream_gene_variant,,ENST00000590862,;TK1,upstream_gene_variant,,ENST00000586613,;TK1,upstream_gene_variant,,ENST00000590430,;TK1,upstream_gene_variant,,ENST00000405273,;TK1,upstream_gene_variant,,ENST00000301634,;TK1,upstream_gene_variant,,ENST00000588734,;AFMID,upstream_gene_variant,,ENST00000591538,;AFMID,synonymous_variant,p.%3D,ENST00000589107,;AFMID,synonymous_variant,p.%3D,ENST00000588199,;AFMID,non_coding_transcript_exon_variant,,ENST00000592988,;TK1,upstream_gene_variant,,ENST00000592126,;	60	45	44	SUCCESS
EMILIN2	84034	.	GRCh37	18	2891529	2891529	+	synonymous_variant	Silent	SNP	C	C	T	rs994560353	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	86	0	ENST00000254528.3:c.1404C>T	p.Cys468=	p.C468=	ENST00000254528	NM_032048.2	468	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS11828.1	1404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCTTTTA	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5	.	.	ENSP00000254528	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000254528	Transcript	.	.	ENSG00000132205	19881	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMIL2_HUMAN	EMILIN2	HGNC	.	.	UPI000013CE3E	SNV	EMILIN2,synonymous_variant,p.%3D,ENST00000254528,;	1563	86	93	SUCCESS
TCEB3C	0	.	GRCh37	18	44555190	44555190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	44	0	ENST00000330682.2:c.1024C>T	p.Leu342Phe	p.L342F	ENST00000330682	NM_145653.3	342	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11931.1	1024	RADIA|VARSCANS	.	CCGGAGGCACT	NONE	.	.	hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36	.	.	ENSP00000328232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330682	Transcript	.	.	ENSG00000183791	24617	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.12)	.	deleterious(0)	.	ELOA3_HUMAN	TCEB3C	HGNC	.	.	UPI0000140A9D	SNV	TCEB3C,missense_variant,p.Leu342Phe,ENST00000330682,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3B,downstream_gene_variant,,ENST00000332567,;TCEB3CL,upstream_gene_variant,,ENST00000451265,;	1260	44	46	SUCCESS
CYB5A	1528	.	GRCh37	18	71959015	71959027	+	frameshift_variant	Frame_Shift_Del	DEL	GTGGTGCAGGATC	GTGGTGCAGGATC	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	GTGGTGCAGGATC	GTGGTGCAGGATC	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	52	0	ENST00000340533.4:c.84_96del	p.Ile29ArgfsTer5	p.I29Rfs*5	ENST00000340533	NM_148923.3	28	ctGATCCTGCACCAC/ct	0	.	.	.	.	.	-	LILHH/X	protein_coding	YES	CCDS12004.1	84-96	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCTTGTGGTGCAGGATCAGCCA	NONE	.	.	PROSITE_profiles:PS50255,hmmpanther:PTHR19359,hmmpanther:PTHR19359:SF12,Pfam_domain:PF00173,Gene3D:3.10.120.10,Superfamily_domains:SSF55856	.	.	ENSP00000341625	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000340533	Transcript	.	.	ENSG00000166347	2570	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CYB5_HUMAN	CYB5A	HGNC	Q9UML1_HUMAN,J3KNC7_HUMAN	.	UPI0000000DF0	deletion	CYB5A,frameshift_variant,p.Ile29ArgfsTer5,ENST00000494131,;CYB5A,frameshift_variant,p.Ile29ArgfsTer5,ENST00000340533,;CYB5A,frameshift_variant,p.Ile29ArgfsTer5,ENST00000397914,;CYB5A,upstream_gene_variant,,ENST00000299438,;CYB5A,non_coding_transcript_exon_variant,,ENST00000583418,;	225-237	52	56	SUCCESS
PKN1	5585	.	GRCh37	19	14574553	14574553	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	91	0	ENST00000242783.6:c.1494A>C	p.Gln498His	p.Q498H	ENST00000242783	NM_002741.3	498	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS42514.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAAGGTGA	NONE	.	.	hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF69	.	.	ENSP00000343325	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000342216	Transcript	.	.	ENSG00000123143	9405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.07)	.	PKN1_HUMAN	PKN1	HGNC	.	.	UPI0000366D4D	SNV	PKN1,missense_variant,p.Gln498His,ENST00000242783,;PKN1,missense_variant,p.Gln504His,ENST00000342216,;PKN1,upstream_gene_variant,,ENST00000586237,;CTC-548K16.6,downstream_gene_variant,,ENST00000589702,;PKN1,splice_region_variant,,ENST00000585839,;PKN1,splice_region_variant,,ENST00000586900,;PKN1,upstream_gene_variant,,ENST00000591461,;PKN1,upstream_gene_variant,,ENST00000587215,;	1543	91	92	SUCCESS
NOTCH3	4854	.	GRCh37	19	15300099	15300099	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	37	0	ENST00000263388.2:c.1177G>C	p.Asp393His	p.D393H	ENST00000263388	NM_000435.2	393	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS12326.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGTCCACAT	NONE	.	.	Superfamily_domains:SSF57196,Superfamily_domains:SSF57184,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Pfam_domain:PF07645,Gene3D:2.10.25.10,PROSITE_patterns:PS01187,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	7/33	.	.	.	.	.	.	.	.	COSM3529565,COSM3529566	7/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Asp393His,ENST00000263388,;NOTCH3,missense_variant,p.Asp392His,ENST00000601011,;	1253	37	30	SUCCESS
ZNF98	148198	.	GRCh37	19	22575694	22575694	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	99	313	1	ENST00000357774.5:c.343T>A	p.Cys115Ser	p.C115S	ENST00000357774	NM_001098626.1	115	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS46031.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACATTTTT	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0.03)	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,missense_variant,p.Cys115Ser,ENST00000357774,;ZNF98,missense_variant,p.Cys74Ser,ENST00000593657,;	465	314	272	SUCCESS
ZNF91	7644	.	GRCh37	19	23543172	23543172	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146124770	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	69	0	ENST00000300619.7:c.2609C>T	p.Thr870Met	p.T870M	ENST00000300619	NM_003430.2	870	aCg/aTg	0	A:0.0035	A:0.0023	.	A:0	.	A	T/M	protein_coding	YES	CCDS42541.1	2609	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCGTAAGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	A:0	A:0	ENSP00000300619	A:0	4/4	.	.	.	.	.	.	.	.	rs146124770	4/4	PASS	ENST00000300619	Transcript	.	A:0.0006	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	A:0	tolerated(0.11)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Thr838Met,ENST00000397082,;ZNF91,missense_variant,p.Thr870Met,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	2815	69	66	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38633246	38633246	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	31	0	ENST00000222345.6:c.3429A>G	p.Val1143=	p.V1143=	ENST00000222345	NM_015073.1	1143	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS33007.1	3429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTATCACC	NONE	.	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	.	.	ENSP00000222345	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,synonymous_variant,p.%3D,ENST00000222345,;	3938	31	27	SUCCESS
PRMT1	3276	.	GRCh37	19	50187272	50187272	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	87	0	ENST00000454376.2:c.501C>A	p.Cys167Ter	p.C167*	ENST00000454376	NM_001536.5	167	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS46145.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCCTCTT	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF54,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000406162	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000454376	Transcript	.	.	ENSG00000126457	5187	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PRMT1	HGNC	H7C2I1_HUMAN,E9PQ98_HUMAN,E9PNR9_HUMAN,E9PKG1_HUMAN,E9PI83_HUMAN	.	UPI0000456CFB	SNV	PRMT1,stop_gained,p.Cys121Ter,ENST00000526224,;PRMT1,stop_gained,p.Cys177Ter,ENST00000524771,;PRMT1,stop_gained,p.Cys121Ter,ENST00000534465,;PRMT1,stop_gained,p.Cys149Ter,ENST00000391851,;PRMT1,stop_gained,p.Cys121Ter,ENST00000532489,;PRMT1,stop_gained,p.Cys167Ter,ENST00000454376,;PRMT1,stop_gained,p.Cys121Ter,ENST00000527382,;PRMT1,stop_gained,p.Cys121Ter,ENST00000529284,;PRMT1,downstream_gene_variant,,ENST00000528623,;PRMT1,downstream_gene_variant,,ENST00000529836,;ADM5,upstream_gene_variant,,ENST00000420022,;PRMT1,downstream_gene_variant,,ENST00000527412,;AC011495.1,downstream_gene_variant,,ENST00000581740,;CTB-33G10.6,downstream_gene_variant,,ENST00000596472,;PRMT1,upstream_gene_variant,,ENST00000527866,;PRMT1,upstream_gene_variant,,ENST00000530361,;PRMT1,upstream_gene_variant,,ENST00000530070,;PRMT1,3_prime_UTR_variant,,ENST00000534280,;PRMT1,non_coding_transcript_exon_variant,,ENST00000525616,;PRMT1,non_coding_transcript_exon_variant,,ENST00000534676,;PRMT1,non_coding_transcript_exon_variant,,ENST00000529650,;PRMT1,downstream_gene_variant,,ENST00000525915,;PRMT1,upstream_gene_variant,,ENST00000528126,;	510	87	81	SUCCESS
RANBP3	8498	.	GRCh37	19	5931460	5931460	+	synonymous_variant	Silent	SNP	T	T	C	rs761477217	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	60	0	ENST00000340578.6:c.648A>G	p.Ala216=	p.A216=	ENST00000340578	NM_007322.2	216	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS42478.1	648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATGCAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23138:SF91,hmmpanther:PTHR23138	.	.	ENSP00000341483	.	8/17	.	.	.	.	.	.	.	.	rs761477217	8/17	PASS	ENST00000340578	Transcript	.	.	ENSG00000031823	9850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RANB3_HUMAN	RANBP3	HGNC	K7ESQ0_HUMAN,K7EMH9_HUMAN,K7EIJ4_HUMAN	.	UPI000006F919	SNV	RANBP3,synonymous_variant,p.%3D,ENST00000591092,;RANBP3,synonymous_variant,p.%3D,ENST00000541471,;RANBP3,synonymous_variant,p.%3D,ENST00000587159,;RANBP3,synonymous_variant,p.%3D,ENST00000034275,;RANBP3,synonymous_variant,p.%3D,ENST00000439268,;RANBP3,synonymous_variant,p.%3D,ENST00000340578,;RANBP3,synonymous_variant,p.%3D,ENST00000591736,;RANBP3,5_prime_UTR_variant,,ENST00000590623,;RANBP3,intron_variant,,ENST00000592621,;RANBP3,intron_variant,,ENST00000587479,;RANBP3,non_coding_transcript_exon_variant,,ENST00000588879,;RANBP3,non_coding_transcript_exon_variant,,ENST00000590953,;RANBP3,downstream_gene_variant,,ENST00000591881,;RANBP3,downstream_gene_variant,,ENST00000591124,;RANBP3,downstream_gene_variant,,ENST00000589886,;RANBP3,downstream_gene_variant,,ENST00000586117,;RANBP3,3_prime_UTR_variant,,ENST00000592771,;RANBP3,non_coding_transcript_exon_variant,,ENST00000587411,;RANBP3,non_coding_transcript_exon_variant,,ENST00000586344,;RANBP3,downstream_gene_variant,,ENST00000587263,;RANBP3,downstream_gene_variant,,ENST00000589353,;RANBP3,downstream_gene_variant,,ENST00000587463,;RANBP3,downstream_gene_variant,,ENST00000592133,;RANBP3,downstream_gene_variant,,ENST00000585339,;RANBP3,upstream_gene_variant,,ENST00000593025,;RANBP3,downstream_gene_variant,,ENST00000588010,;	706	60	36	SUCCESS
OLFM3	118427	.	GRCh37	1	102302451	102302451	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748816968	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	91	0	ENST00000338858.5:c.260G>T	p.Arg87Leu	p.R87L	ENST00000338858		87	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS30781.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGCGAAGT	BUFFER|p.E91K|c.271G>A|3,BUFFER|p.E71K|c.211G>A|3	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192,Pfam_domain:PF12308,Superfamily_domains:SSF50969	.	.	ENSP00000359121	.	2/6	.	.	.	.	.	.	.	.	rs748816968,COSM674684,COSM674685	2/6	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.205)	.	deleterious(0.01)	0,1,1	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,missense_variant,p.Arg87Leu,ENST00000338858,;OLFM3,missense_variant,p.Arg67Leu,ENST00000370103,;OLFM3,missense_variant,p.Arg87Leu,ENST00000359814,;OLFM3,5_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;OLFM3,non_coding_transcript_exon_variant,,ENST00000468901,;	414	91	79	SUCCESS
PEX14	5195	.	GRCh37	1	10659348	10659348	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138317958	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	49	0	ENST00000356607.4:c.223G>T	p.Asp75Tyr	p.D75Y	ENST00000356607	NM_004565.2	75	Gat/Tat	0	A:0	.	.	.	.	T	D/Y	protein_coding	YES	CCDS30582.1	223	RADIA|VARSCANS	.	CTGCCGATGAG	NONE	byCluster	.	hmmpanther:PTHR23058,Pfam_domain:PF04695	.	A:0.0001	ENSP00000349016	.	4/9	.	.	.	.	.	.	.	.	rs138317958	4/9	PASS	ENST00000356607	Transcript	.	.	ENSG00000142655	8856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.813)	.	deleterious(0)	.	PEX14_HUMAN	PEX14	HGNC	F5H4J2_HUMAN	.	UPI000013170A	SNV	PEX14,missense_variant,p.Asp11Tyr,ENST00000538836,;PEX14,missense_variant,p.Asp75Tyr,ENST00000356607,;PEX14,missense_variant,p.Asp70Tyr,ENST00000491661,;	303	49	32	SUCCESS
PRMT6	55170	.	GRCh37	1	107600118	107600118	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762278719	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	24	0	ENST00000370078.1:c.781G>T	p.Ala261Ser	p.A261S	ENST00000370078		261	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS41360.2	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCGCCGGC	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF50,hmmpanther:PTHR11006,Gene3D:2.70.160.11,Superfamily_domains:SSF53335	.	.	ENSP00000359095	.	1/1	.	.	.	.	.	.	.	.	rs762278719	1/1	PASS	ENST00000370078	Transcript	.	.	ENSG00000198890	18241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.15)	.	ANM6_HUMAN	PRMT6	HGNC	.	.	UPI000004B63D	SNV	PRMT6,missense_variant,p.Ala261Ser,ENST00000370078,;PRMT6,missense_variant,p.Ala202Ser,ENST00000361318,;	818	24	26	SUCCESS
CAPZA1	829	.	GRCh37	1	113192075	113192075	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	97	0	ENST00000263168.3:c.139A>T	p.Arg47Trp	p.R47W	ENST00000263168	NM_006135.2	47	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS30805.1	139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAGGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF2,Pfam_domain:PF01267,Superfamily_domains:SSF90096	.	.	ENSP00000263168	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000263168	Transcript	.	.	ENSG00000116489	1488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	CAZA1_HUMAN	CAPZA1	HGNC	.	.	UPI00001270FA	SNV	CAPZA1,missense_variant,p.Arg47Trp,ENST00000263168,;snoU13,upstream_gene_variant,,ENST00000459345,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000476936,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000498626,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000485542,;	811	97	88	SUCCESS
PRAMEF14	729528	.	GRCh37	1	13669112	13669112	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	8	204	1	ENST00000344998.3:c.1074G>T	p.Lys358Asn	p.K358N	ENST00000344998		358	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	.	1218	MUTECT|MUSE	.	CTTAACTTGCT	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000334410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000334600	Transcript	.	.	ENSG00000204481	13576	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.106)	.	tolerated(0.41)	.	.	PRAMEF14	HGNC	A6NFR9_HUMAN	.	UPI000013DEF2	SNV	PRAMEF14,missense_variant,p.Lys358Asn,ENST00000344998,;PRAMEF14,missense_variant,p.Lys406Asn,ENST00000334600,;PRAMEF14,non_coding_transcript_exon_variant,,ENST00000602491,;	1321	205	172	SUCCESS
LCE5A	254910	.	GRCh37	1	152484032	152484032	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs902393265	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	13	50	0	ENST00000334269.2:c.22C>A	p.Gln8Lys	p.Q8K	ENST00000334269	NM_178438.4	8	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1011.1	22	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00021,hmmpanther:PTHR23263:SF31,hmmpanther:PTHR23263	.	.	ENSP00000333952	.	2/2	.	.	.	.	.	.	.	.	COSM240469	2/2	PASS	ENST00000334269	Transcript	.	.	ENSG00000186207	16614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	tolerated_low_confidence(0.41)	1	LCE5A_HUMAN	LCE5A	HGNC	.	.	UPI00001615D7	SNV	LCE5A,missense_variant,p.Gln8Lys,ENST00000334269,;CRCT1,upstream_gene_variant,,ENST00000368790,;	198	50	108	SUCCESS
RAB25	57111	.	GRCh37	1	156035802	156035802	+	synonymous_variant	Silent	SNP	G	G	A	rs958826954	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	40	0	ENST00000361084.5:c.144G>A	p.Glu48=	p.E48=	ENST00000361084	NM_020387.2	48	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS41413.1	144	MUTECT|MUSE	.	GTTGAGTTCTC	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,hmmpanther:PTHR24073:SF319,hmmpanther:PTHR24073,PROSITE_profiles:PS51419	.	.	ENSP00000354376	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000361084	Transcript	.	.	ENSG00000132698	18238	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB25_HUMAN	RAB25	HGNC	.	.	UPI0000073C4C	SNV	RAB25,synonymous_variant,p.%3D,ENST00000361084,;RAB25,non_coding_transcript_exon_variant,,ENST00000463614,;RAB25,intron_variant,,ENST00000473336,;RAB25,intron_variant,,ENST00000487325,;RAB25,upstream_gene_variant,,ENST00000497968,;	385	40	88	SUCCESS
ETV3	2117	.	GRCh37	1	157095349	157095349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	81	97	0	ENST00000368192.4:c.823T>C	p.Ser275Pro	p.S275P	ENST00000368192	NM_001145312.1	275	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS44250.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGAGAAGA	NONE	.	.	hmmpanther:PTHR11849:SF30,hmmpanther:PTHR11849	.	.	ENSP00000357175	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000368192	Transcript	.	.	ENSG00000117036	3492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	tolerated(0.47)	.	ETV3_HUMAN	ETV3	HGNC	.	.	UPI0000071047	SNV	ETV3,missense_variant,p.Ser275Pro,ENST00000368192,;CYCSP52,upstream_gene_variant,,ENST00000422857,;	888	97	210	SUCCESS
SPEN	23013	.	GRCh37	1	16259330	16259330	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs550359408	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	88	0	ENST00000375759.3:c.6595G>T	p.Ala2199Ser	p.A2199S	ENST00000375759	NM_015001.2	2199	Gcc/Tcc	0	.	T:0	.	T:0	.	T	A/S	protein_coding	YES	CCDS164.1	6595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGCCCCA	NONE	by1000G	.	hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	T:0.001	.	ENSP00000364912	T:0	11/15	.	.	.	.	.	.	.	.	rs550359408	11/15	PASS	ENST00000375759	Transcript	.	T:0.0002	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Ala2199Ser,ENST00000375759,;	6799	88	81	SUCCESS
CD55	1604	.	GRCh37	1	207510136	207510136	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	75	102	0	ENST00000367064.3:c.952A>C	p.Thr318Pro	p.T318P	ENST00000367064	NM_000574.3	318	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS44307.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCACAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF319	.	.	ENSP00000316333	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000314754	Transcript	.	.	ENSG00000196352	2665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.383)	.	deleterious(0.01)	.	DAF_HUMAN	CD55	HGNC	Q76N74_HUMAN	.	UPI000002EA80	SNV	CD55,missense_variant,p.Thr318Pro,ENST00000367064,;CD55,missense_variant,p.Thr254Pro,ENST00000391921,;CD55,missense_variant,p.Thr318Pro,ENST00000367062,;CD55,missense_variant,p.Thr318Pro,ENST00000314754,;CD55,missense_variant,p.Thr318Pro,ENST00000367065,;CD55,missense_variant,p.Thr318Pro,ENST00000367063,;CD55,missense_variant,p.Thr318Pro,ENST00000391920,;CD55,3_prime_UTR_variant,,ENST00000367067,;CD55,downstream_gene_variant,,ENST00000343420,;CD55,non_coding_transcript_exon_variant,,ENST00000465534,;CD55,missense_variant,p.Thr318Pro,ENST00000482390,;CD55,non_coding_transcript_exon_variant,,ENST00000488171,;CD55,non_coding_transcript_exon_variant,,ENST00000476590,;	1017	102	150	SUCCESS
C1orf50	79078	.	GRCh37	1	43240502	43240502	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	46	0	ENST00000372525.5:c.377A>G	p.Glu126Gly	p.E126G	ENST00000372525	NM_024097.3	126	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS473.1	377	RADIA|VARSCANS	.	ACGGGAGAGTG	NONE	.	.	hmmpanther:PTHR14553,Pfam_domain:PF10504	.	.	ENSP00000361603	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000372525	Transcript	.	.	ENSG00000164008	28795	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.026)	.	deleterious(0.04)	.	CA050_HUMAN	C1orf50	HGNC	.	.	UPI000013E32F	SNV	C1orf50,missense_variant,p.Glu126Gly,ENST00000372525,;C1orf50,5_prime_UTR_variant,,ENST00000536543,;RP5-994D16.9,downstream_gene_variant,,ENST00000447572,;C1orf50,non_coding_transcript_exon_variant,,ENST00000468913,;C1orf50,downstream_gene_variant,,ENST00000494155,;C1orf50,3_prime_UTR_variant,,ENST00000603943,;C1orf50,3_prime_UTR_variant,,ENST00000464081,;	420	46	38	SUCCESS
ALG6	29929	.	GRCh37	1	63876884	63876884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	10	182	0	ENST00000371108.4:c.562C>A	p.Leu188Ile	p.L188I	ENST00000371108	NM_013339.3	188	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS30735.1	562	MUTECT|MUSE	.	ACCTCCTAGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12413:SF1,hmmpanther:PTHR12413,Pfam_domain:PF03155	.	.	ENSP00000360149	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000371108	Transcript	.	.	ENSG00000088035	23157	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.596)	.	tolerated(0.17)	.	ALG6_HUMAN	ALG6	HGNC	.	.	UPI00001E057D	SNV	ALG6,missense_variant,p.Leu190Ile,ENST00000263440,;ALG6,missense_variant,p.Leu188Ile,ENST00000371108,;ALG6,upstream_gene_variant,,ENST00000465969,;ALG6,missense_variant,p.Leu190Ile,ENST00000603108,;	867	182	162	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74649130	74649130	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs552021191	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	33	162	0	ENST00000354431.4:c.239A>C	p.His80Pro	p.H80P	ENST00000354431	NM_001105659.1	80	cAt/cCt	0	.	C:0	.	C:0	.	G	H/P	protein_coding	YES	CCDS41350.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGGAGA	NONE	by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10588:SF206,hmmpanther:PTHR10588,Pfam_domain:PF12799,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	C:0	.	ENSP00000346414	C:0.001	2/8	.	.	.	.	.	.	.	.	rs552021191	2/8	PASS	ENST00000354431	Transcript	.	C:0.0002	ENSG00000162620	28318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	C:0	deleterious(0)	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,missense_variant,p.His80Pro,ENST00000395089,;LRRIQ3,missense_variant,p.His80Pro,ENST00000354431,;LRRIQ3,missense_variant,p.His23Pro,ENST00000444984,;LRRIQ3,missense_variant,p.His80Pro,ENST00000370909,;LRRIQ3,missense_variant,p.His80Pro,ENST00000370911,;LRRIQ3,upstream_gene_variant,,ENST00000495179,;LRRIQ3,missense_variant,p.His80Pro,ENST00000415760,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000463724,;	431	162	138	SUCCESS
C1orf173	0	.	GRCh37	1	75038452	75038452	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	51	128	1	ENST00000326665.5:c.2942C>T	p.Ala981Val	p.A981V	ENST00000326665	NM_001002912.4	981	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS30755.1	2942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGCTGGT	NONE	.	.	hmmpanther:PTHR23034	.	.	ENSP00000322609	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.08)	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,missense_variant,p.Ala981Val,ENST00000326665,;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	3161	129	152	SUCCESS
CAMTA1	23261	.	GRCh37	1	7797423	7797423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	60	0	ENST00000303635.7:c.3451G>A	p.Ala1151Thr	p.A1151T	ENST00000303635	NM_015215.2	1151	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS30576.1	3451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGCCAGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000306522	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Ala1151Thr,ENST00000303635,;CAMTA1,missense_variant,p.Ala108Thr,ENST00000495233,;CAMTA1,missense_variant,p.Ala1151Thr,ENST00000439411,;	3658	60	58	SUCCESS
ZNF644	84146	.	GRCh37	1	91406103	91406103	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	73	230	1	ENST00000337393.5:c.808A>G	p.Met270Val	p.M270V	ENST00000337393	NM_201269.2	270	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS731.1	808	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCATAAGAA	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF180	.	.	ENSP00000359469	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.24)	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,missense_variant,p.Met270Val,ENST00000370440,;ZNF644,missense_variant,p.Met270Val,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,;	1026	232	210	SUCCESS
GGT7	2686	.	GRCh37	20	33451284	33451284	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	32	0	ENST00000336431.5:c.237C>G	p.Ser79Arg	p.S79R	ENST00000336431	NM_178026.2	79	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS13242.2	237	RADIA|SOMATICSNIPER|VARSCANS	.	TCTTGGCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11686:SF18,hmmpanther:PTHR11686	.	.	ENSP00000338964	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000336431	Transcript	.	.	ENSG00000131067	4259	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.324)	.	deleterious(0.01)	.	GGT7_HUMAN	GGT7	HGNC	A4FU32_HUMAN,A0PJJ9_HUMAN	.	UPI000004C2AB	SNV	GGT7,missense_variant,p.Ser96Arg,ENST00000427420,;GGT7,missense_variant,p.Ser79Arg,ENST00000336431,;	282	32	23	SUCCESS
ITGB2	3689	.	GRCh37	21	46328091	46328091	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	54	0	ENST00000302347.5:c.148-1081G>T		p.*50*	ENST00000302347	NM_000211.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13716.1	.	MUTECT|MUSE	.	CAAAGCCGCTC	NONE	.	.	.	.	.	ENSP00000380948	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODIFIER	4/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Ala52Ser,ENST00000397846,;ITGB2,intron_variant,,ENST00000397850,;ITGB2,intron_variant,,ENST00000524251,;ITGB2,intron_variant,,ENST00000320216,;ITGB2,intron_variant,,ENST00000517563,;ITGB2,intron_variant,,ENST00000523663,;ITGB2,intron_variant,,ENST00000397852,;ITGB2,intron_variant,,ENST00000522931,;ITGB2,intron_variant,,ENST00000302347,;ITGB2,intron_variant,,ENST00000355153,;ITGB2,intron_variant,,ENST00000517819,;ITGB2,intron_variant,,ENST00000522688,;ITGB2,intron_variant,,ENST00000397857,;ITGB2,intron_variant,,ENST00000397854,;ITGB2,downstream_gene_variant,,ENST00000521995,;ITGB2,non_coding_transcript_exon_variant,,ENST00000479849,;ITGB2,intron_variant,,ENST00000521987,;ITGB2,downstream_gene_variant,,ENST00000523126,;ITGB2,missense_variant,p.Ala52Ser,ENST00000520389,;ITGB2,intron_variant,,ENST00000498666,;ITGB2,intron_variant,,ENST00000523323,;ITGB2,downstream_gene_variant,,ENST00000518033,;	.	54	62	SUCCESS
MICAL3	57553	.	GRCh37	22	18374289	18374289	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	47	155	0	ENST00000441493.2:c.1656C>G	p.Ala552=	p.A552=	ENST00000441493	NM_015241.2	552	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46659.1	1656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGGCCAA	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000416015	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000207726,;MICAL3,synonymous_variant,p.%3D,ENST00000444520,;MICAL3,synonymous_variant,p.%3D,ENST00000383094,;MICAL3,synonymous_variant,p.%3D,ENST00000414725,;MICAL3,synonymous_variant,p.%3D,ENST00000461307,;MICAL3,synonymous_variant,p.%3D,ENST00000585038,;MICAL3,synonymous_variant,p.%3D,ENST00000429452,;MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,synonymous_variant,p.%3D,ENST00000400561,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;	2009	155	152	SUCCESS
CCDC157	550631	.	GRCh37	22	30762072	30762072	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	26	0	ENST00000338306.3:c.83T>A	p.Val28Asp	p.V28D	ENST00000338306	NM_001017437.2	28	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS33632.2	83	RADIA|MUTECT|MUSE	.	AGACGTCTTCT	NONE	.	.	hmmpanther:PTHR18937:SF173,hmmpanther:PTHR18937	.	.	ENSP00000385357	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000405659	Transcript	.	.	ENSG00000187860	33854	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.561)	.	deleterious(0)	.	CC157_HUMAN	CCDC157	HGNC	E7EWT0_HUMAN,E7ETG3_HUMAN,A8MUK5_HUMAN	.	UPI0001610F7B	SNV	CCDC157,missense_variant,p.Val28Asp,ENST00000405659,;CCDC157,missense_variant,p.Val28Asp,ENST00000430839,;CCDC157,missense_variant,p.Val28Asp,ENST00000338306,;CCDC157,missense_variant,p.Val28Asp,ENST00000445005,;CCDC157,missense_variant,p.Val28Asp,ENST00000399824,;CCDC157,intron_variant,,ENST00000475975,;	792	26	45	SUCCESS
CACNA1I	8911	.	GRCh37	22	40080564	40080579	+	intron_variant	Intron	DEL	AGGCCTGGAAGTCCAA	AGGCCTGGAAGTCCAA	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	AGGCCTGGAAGTCCAA	AGGCCTGGAAGTCCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	22	0	ENST00000402142.3:c.6027+61_6027+76del		p.*2009*	ENST00000402142	NM_021096.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46710.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAGCCAGGCCTGGAAGTCCAAGGGAC	NONE	.	.	.	.	.	ENSP00000385019	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	MODIFIER	36/36	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	deletion	CACNA1I,3_prime_UTR_variant,,ENST00000401624,;CACNA1I,intron_variant,,ENST00000402142,;CACNA1I,intron_variant,,ENST00000400164,;CACNA1I,intron_variant,,ENST00000336649,;CACNA1I,intron_variant,,ENST00000404898,;CACNA1I,downstream_gene_variant,,ENST00000407673,;	.	22	29	SUCCESS
TNRC6B	23112	.	GRCh37	22	40662452	40662452	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	53	47	0	ENST00000454349.2:c.2218C>T	p.Gln740Ter	p.Q740*	ENST00000454349	NM_001162501.1	740	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS54533.1	2218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATCAAGGA	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32	.	.	ENSP00000401946	.	5/23	.	.	.	.	.	.	.	.	COSM1647508	5/23	PASS	ENST00000454349	Transcript	.	.	ENSG00000100354	29190	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TNR6B_HUMAN	TNRC6B	HGNC	.	.	UPI00017A6F19	SNV	TNRC6B,stop_gained,p.Gln740Ter,ENST00000454349,;TNRC6B,stop_gained,p.Gln483Ter,ENST00000446273,;TNRC6B,stop_gained,p.Gln740Ter,ENST00000335727,;TNRC6B,intron_variant,,ENST00000402203,;TNRC6B,intron_variant,,ENST00000301923,;	2429	47	108	SUCCESS
NT5DC4	284958	.	GRCh37	2	113483036	113483036	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1169119113	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	32	69	0	ENST00000327581.4:c.964G>A	p.Asp322Asn	p.D322N	ENST00000327581		322	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGACATT	NONE	.	.	hmmpanther:PTHR12103:SF18,hmmpanther:PTHR12103,Pfam_domain:PF05761,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR02244,Superfamily_domains:SSF56784	.	.	ENSP00000330247	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000327581	Transcript	.	.	ENSG00000144130	27678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.561)	.	deleterious(0.02)	.	NT5D4_HUMAN	NT5DC4	HGNC	.	.	UPI0000197313	SNV	NT5DC4,missense_variant,p.Asp322Asn,ENST00000327581,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000497526,;NT5DC4,upstream_gene_variant,,ENST00000491170,;NT5DC4,upstream_gene_variant,,ENST00000462854,;NT5DC4,downstream_gene_variant,,ENST00000470675,;NT5DC4,downstream_gene_variant,,ENST00000484666,;	1015	69	64	SUCCESS
TUBA3D	113457	.	GRCh37	2	132235947	132235947	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	19	133	0	ENST00000321253.6:c.214C>A	p.Pro72Thr	p.P72T	ENST00000321253	NM_080386.3	72	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33290.1	214	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCCACT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000326042	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000321253	Transcript	.	.	ENSG00000075886	24071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.712)	.	deleterious_low_confidence(0.01)	.	TBA3C_HUMAN	TUBA3D	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3D,missense_variant,p.Pro72Thr,ENST00000321253,;TUBA3D,upstream_gene_variant,,ENST00000409047,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	321	133	95	SUCCESS
UBXN4	23190	.	GRCh37	2	136513213	136513213	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs964000481	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	31	0	ENST00000272638.9:c.460C>T	p.Leu154Phe	p.L154F	ENST00000272638	NM_014607.3	154	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS42761.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCTTTGT	NONE	.	.	.	.	.	ENSP00000272638	.	5/13	.	.	.	.	.	.	.	.	COSM1269677	5/13	PASS	ENST00000272638	Transcript	.	.	ENSG00000144224	14860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.74)	1	UBXN4_HUMAN	UBXN4	HGNC	B3KTD5_HUMAN	.	UPI0000074226	SNV	UBXN4,missense_variant,p.Leu154Phe,ENST00000272638,;UBXN4,downstream_gene_variant,,ENST00000415164,;UBXN4,non_coding_transcript_exon_variant,,ENST00000490163,;UBXN4,3_prime_UTR_variant,,ENST00000426921,;UBXN4,3_prime_UTR_variant,,ENST00000416538,;UBXN4,non_coding_transcript_exon_variant,,ENST00000470687,;	771	31	30	SUCCESS
PSMD14	10213	.	GRCh37	2	162227718	162227718	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	52	253	0	ENST00000409682.3:c.347C>G	p.Pro116Arg	p.P116R	ENST00000409682	NM_005805.5	116	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS46437.1	347	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCTGGCT	NONE	.	.	hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF5,Pfam_domain:PF01398,Gene3D:3.40.140.10,SMART_domains:SM00232,Superfamily_domains:0048572	.	.	ENSP00000386541	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000409682	Transcript	.	.	ENSG00000115233	16889	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PSDE_HUMAN	PSMD14	HGNC	Q96DE8_HUMAN,Q53TH1_HUMAN,Q4ZG77_HUMAN,C9JW37_HUMAN	.	UPI0000027819	SNV	PSMD14,missense_variant,p.Pro116Arg,ENST00000409682,;PSMD14,downstream_gene_variant,,ENST00000437630,;	1051	253	248	SUCCESS
STAT1	6772	.	GRCh37	2	191840382	191840382	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	24	0	ENST00000361099.3:c.2135+156G>A		p.*712*	ENST00000361099	NM_007315.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGCTGATA	NONE	.	.	.	.	.	ENSP00000354394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361099	Transcript	.	.	ENSG00000115415	11362	.	.	MODIFIER	23/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAT1_HUMAN	STAT1	HGNC	Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN	.	UPI00000473FB	SNV	STAT1,3_prime_UTR_variant,,ENST00000392323,;STAT1,3_prime_UTR_variant,,ENST00000392322,;STAT1,intron_variant,,ENST00000540176,;STAT1,intron_variant,,ENST00000361099,;STAT1,intron_variant,,ENST00000409465,;STAT1,3_prime_UTR_variant,,ENST00000452281,;STAT1,intron_variant,,ENST00000423282,;STAT1,downstream_gene_variant,,ENST00000464072,;STAT1,upstream_gene_variant,,ENST00000415035,;	.	24	32	SUCCESS
UNC80	285175	.	GRCh37	2	210835632	210835632	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	46	233	0	ENST00000439458.1:c.8009C>A	p.Pro2670His	p.P2670H	ENST00000439458	NM_032504.1	2670	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS46504.1	8009	RADIA|MUTECT|MUSE|VARSCANS	.	ACCACCTCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	53/64	.	.	.	.	.	.	.	.	.	53/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Pro2670His,ENST00000439458,;UNC80,missense_variant,p.Pro2665His,ENST00000272845,;UNC80,missense_variant,p.Pro116His,ENST00000539183,;UNC80,missense_variant,p.Pro196His,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;UNC80,downstream_gene_variant,,ENST00000489023,;	8089	233	239	SUCCESS
CPS1	1373	.	GRCh37	2	211471635	211471635	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752339705	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	115	0	ENST00000233072.5:c.2162G>T	p.Arg721Leu	p.R721L	ENST00000233072	NM_001875.4	721	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS46505.1	2180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGAAGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50975,hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Pfam_domain:PF02786,Gene3D:3.30.470.20,Superfamily_domains:SSF56059,Prints_domain:PR00098	.	.	ENSP00000402608	.	19/39	.	.	.	.	.	.	.	.	rs752339705,CM114345,COSM1405137,COSM1405136	19/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.662)	.	deleterious(0)	0,0,1,1	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Arg727Leu,ENST00000430249,;CPS1,missense_variant,p.Arg721Leu,ENST00000233072,;CPS1,missense_variant,p.Arg270Leu,ENST00000451903,;CPS1,downstream_gene_variant,,ENST00000467353,;	2235	115	104	SUCCESS
C2orf57	0	.	GRCh37	2	232458647	232458647	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375509340	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	38	0	ENST00000313965.2:c.985C>A	p.Arg329Ser	p.R329S	ENST00000313965	NM_152614.2	329	Cgc/Agc	0	T:0.0002	.	.	.	.	A	R/S	protein_coding	YES	CCDS2487.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGCGCTCG	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000315557	.	1/1	.	.	.	.	.	.	.	.	rs375509340	1/1	PASS	ENST00000313965	Transcript	.	.	ENSG00000177673	28563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	deleterious(0.01)	.	CB057_HUMAN	C2orf57	HGNC	.	.	UPI000013F6CA	SNV	C2orf57,missense_variant,p.Arg329Ser,ENST00000313965,;	1073	38	38	SUCCESS
NEU2	4759	.	GRCh37	2	233899496	233899496	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	64	0	ENST00000233840.3:c.872A>T	p.Gln291Leu	p.Q291L	ENST00000233840	NM_005383.2	291	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS2501.1	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGTGGC	NONE	.	.	hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	.	.	ENSP00000233840	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000233840	Transcript	.	.	ENSG00000115488	7759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.17)	.	NEUR2_HUMAN	NEU2	HGNC	.	.	UPI000013C98F	SNV	NEU2,missense_variant,p.Gln291Leu,ENST00000233840,;	872	64	35	SUCCESS
C2orf71	0	.	GRCh37	2	29296015	29296015	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745486206	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	95	0	ENST00000331664.5:c.1113G>T	p.Trp371Cys	p.W371C	ENST00000331664	NM_001029883.2	371	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS42669.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCCAGCT	NONE	.	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	rs745486206	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.31)	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,missense_variant,p.Trp371Cys,ENST00000331664,;	1113	95	96	SUCCESS
NLRC4	58484	.	GRCh37	2	32463205	32463205	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	86	0	ENST00000360906.5:c.2517C>T	p.Ile839=	p.I839=	ENST00000360906	NM_001199139.1	839	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33174.1	2517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGGATTTT	NONE	.	.	hmmpanther:PTHR10044:SF97,hmmpanther:PTHR10044,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000385090	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000404025	Transcript	.	.	ENSG00000091106	16412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLRC4_HUMAN	NLRC4	HGNC	.	.	UPI0000126FAD	SNV	NLRC4,synonymous_variant,p.%3D,ENST00000402280,;NLRC4,synonymous_variant,p.%3D,ENST00000360906,;NLRC4,synonymous_variant,p.%3D,ENST00000342905,;NLRC4,synonymous_variant,p.%3D,ENST00000404025,;	3006	86	84	SUCCESS
BIRC6	57448	.	GRCh37	2	32640007	32640007	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	100	0	ENST00000421745.2:c.1648G>T	p.Glu550Ter	p.E550*	ENST00000421745	NM_016252.3	550	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33175.2	1648	MUTECT|MUSE	.	AGAGTGAAAAG	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	10/74	.	.	.	.	.	.	.	.	.	10/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,stop_gained,p.Glu550Ter,ENST00000421745,;	1782	100	95	SUCCESS
KIAA1211L	0	.	GRCh37	2	99449388	99449388	+	synonymous_variant	Silent	SNP	G	G	A	rs746340837	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	53	0	ENST00000397899.2:c.312C>T	p.Asp104=	p.D104=	ENST00000397899	NM_207362.2	104	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS42720.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGTCCTG	NONE	byFrequency	.	hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	.	.	ENSP00000380996	.	4/10	.	.	.	.	.	.	.	.	rs746340837,COSM1246798	4/10	PASS	ENST00000397899	Transcript	.	.	ENSG00000196872	33454	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	K121L_HUMAN	KIAA1211L	HGNC	.	.	UPI0000E59245	SNV	KIAA1211L,synonymous_variant,p.%3D,ENST00000415261,;KIAA1211L,synonymous_variant,p.%3D,ENST00000397899,;KIAA1211L,synonymous_variant,p.%3D,ENST00000428096,;KIAA1211L,synonymous_variant,p.%3D,ENST00000423771,;KIAA1211L,intron_variant,,ENST00000462314,;	644	53	52	SUCCESS
FANCD2	2177	.	GRCh37	3	10128833	10128833	+	synonymous_variant	Silent	SNP	C	C	T	rs566518051	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	42	128	0	ENST00000383807.1:c.3351C>T	p.Tyr1117=	p.Y1117=	ENST00000383807	NM_001018115.1	1117	taC/taT	0	.	T:0	.	T:0	.	T	Y	protein_coding	YES	CCDS2595.1	3351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTACTTGCA	NONE	by1000G	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	T:0	.	ENSP00000287647	T:0	34/43	.	.	.	.	.	.	.	.	rs566518051	34/43	PASS	ENST00000287647	Transcript	.	T:0.0002	ENSG00000144554	3585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,synonymous_variant,p.%3D,ENST00000383807,;FANCD2,synonymous_variant,p.%3D,ENST00000287647,;FANCD2,synonymous_variant,p.%3D,ENST00000419585,;FANCD2,synonymous_variant,p.%3D,ENST00000383806,;FANCD2OS,intron_variant,,ENST00000524279,;FANCD2OS,non_coding_transcript_exon_variant,,ENST00000436517,;FANCD2OS,non_coding_transcript_exon_variant,,ENST00000431315,;FANCD2OS,upstream_gene_variant,,ENST00000450616,;FANCD2,synonymous_variant,p.%3D,ENST00000421731,;	3444	128	146	SUCCESS
MYH15	22989	.	GRCh37	3	108156479	108156479	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	125	0	ENST00000273353.3:c.3203A>C	p.Glu1068Ala	p.E1068A	ENST00000273353	NM_014981.1	1068	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS43127.1	3203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTCCAGT	NONE	.	.	Superfamily_domains:SSF90257,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	26/42	.	.	.	.	.	.	.	.	.	26/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	deleterious(0.01)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Glu1068Ala,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	3260	125	116	SUCCESS
TIMMDC1	51300	.	GRCh37	3	119217576	119217576	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs761253701	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	46	0	ENST00000494664.1:c.-5A>G		p.*2*	ENST00000494664	NM_016589.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33831.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAGGCCA	NONE	byFrequency	.	.	.	.	ENSP00000418803	.	1/7	.	.	.	.	.	.	.	.	rs761253701	1/7	PASS	ENST00000494664	Transcript	.	.	ENSG00000113845	1321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TIDC1_HUMAN	TIMMDC1	HGNC	.	.	UPI0000037B46	SNV	TIMMDC1,5_prime_UTR_variant,,ENST00000493694,;TIMMDC1,5_prime_UTR_variant,,ENST00000466984,;TIMMDC1,5_prime_UTR_variant,,ENST00000494664,;POGLUT1,downstream_gene_variant,,ENST00000295588,;RP11-190C22.8,upstream_gene_variant,,ENST00000609598,;TIMMDC1,5_prime_UTR_variant,,ENST00000463927,;TIMMDC1,5_prime_UTR_variant,,ENST00000264244,;TIMMDC1,5_prime_UTR_variant,,ENST00000486418,;TIMMDC1,5_prime_UTR_variant,,ENST00000492164,;TIMMDC1,upstream_gene_variant,,ENST00000469324,;TIMMDC1,upstream_gene_variant,,ENST00000498399,;	198	46	34	SUCCESS
ACPP	0	.	GRCh37	3	132061394	132061394	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	79	0	ENST00000351273.7:c.556-2A>C		p.X186_splice	ENST00000351273	NM_001134194.1	186		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46916.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCAGGATT	NONE	.	.	.	.	.	ENSP00000323036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	HIGH	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,splice_acceptor_variant,,ENST00000351273,;ACPP,splice_acceptor_variant,,ENST00000495911,;ACPP,splice_acceptor_variant,,ENST00000475741,;ACPP,splice_acceptor_variant,,ENST00000336375,;ACPP,splice_acceptor_variant,,ENST00000512463,;	.	79	72	SUCCESS
TNIK	23043	.	GRCh37	3	170828631	170828631	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	65	0	ENST00000436636.2:c.2156A>G	p.Glu719Gly	p.E719G	ENST00000436636	NM_015028.2	719	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS46956.1	2156	MUTECT|MUSE	.	GGCTCTCCAAG	NONE	.	.	hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361	.	.	ENSP00000399511	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000436636	Transcript	.	.	ENSG00000154310	30765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.65)	.	tolerated(0.06)	.	TNIK_HUMAN	TNIK	HGNC	.	.	UPI000003ABDF	SNV	TNIK,missense_variant,p.Glu690Gly,ENST00000470834,;TNIK,missense_variant,p.Glu635Gly,ENST00000341852,;TNIK,missense_variant,p.Glu719Gly,ENST00000436636,;TNIK,missense_variant,p.Glu635Gly,ENST00000475336,;TNIK,missense_variant,p.Glu664Gly,ENST00000538048,;TNIK,missense_variant,p.Glu664Gly,ENST00000488470,;TNIK,missense_variant,p.Glu690Gly,ENST00000369326,;TNIK,missense_variant,p.Glu719Gly,ENST00000284483,;TNIK,missense_variant,p.Glu664Gly,ENST00000460047,;TNIK,missense_variant,p.Glu690Gly,ENST00000357327,;MIR569,upstream_gene_variant,,ENST00000385228,;	2501	65	64	SUCCESS
CLCN2	1181	.	GRCh37	3	184070097	184070097	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1186891303	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	74	0	ENST00000265593.4:c.2294A>G	p.Glu765Gly	p.E765G	ENST00000265593	NM_004366.5	765	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS3263.1	2294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTCGCCT	NONE	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF64,Superfamily_domains:SSF54631	.	.	ENSP00000265593	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000265593	Transcript	.	.	ENSG00000114859	2020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	CLCN2_HUMAN	CLCN2	HGNC	.	.	UPI000013D645	SNV	CLCN2,missense_variant,p.Glu721Gly,ENST00000434054,;CLCN2,missense_variant,p.Glu748Gly,ENST00000344937,;CLCN2,missense_variant,p.Glu765Gly,ENST00000265593,;CLCN2,missense_variant,p.Glu765Gly,ENST00000457512,;CLCN2,3_prime_UTR_variant,,ENST00000423355,;EIF2B5,intron_variant,,ENST00000444495,;CLCN2,downstream_gene_variant,,ENST00000475279,;CLCN2,3_prime_UTR_variant,,ENST00000430397,;CLCN2,downstream_gene_variant,,ENST00000491162,;CLCN2,downstream_gene_variant,,ENST00000485667,;	2466	74	78	SUCCESS
STAB1	23166	.	GRCh37	3	52558208	52558208	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	106	0	ENST00000321725.6:c.7635C>T	p.Asp2545=	p.D2545=	ENST00000321725	NM_015136.2	2545	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS33768.1	7635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGACACCTT	NONE	.	.	hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	68/69	.	.	.	.	.	.	.	.	.	68/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,synonymous_variant,p.%3D,ENST00000321725,;STAB1,synonymous_variant,p.%3D,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000459839,;NT5DC2,downstream_gene_variant,,ENST00000422318,;NT5DC2,downstream_gene_variant,,ENST00000307076,;NT5DC2,downstream_gene_variant,,ENST00000471522,;NT5DC2,downstream_gene_variant,,ENST00000489316,;NT5DC2,downstream_gene_variant,,ENST00000307092,;NT5DC2,downstream_gene_variant,,ENST00000463947,;NT5DC2,downstream_gene_variant,,ENST00000487779,;NT5DC2,downstream_gene_variant,,ENST00000490681,;STAB1,non_coding_transcript_exon_variant,,ENST00000462741,;STAB1,downstream_gene_variant,,ENST00000461325,;NT5DC2,downstream_gene_variant,,ENST00000492555,;NT5DC2,downstream_gene_variant,,ENST00000479024,;NT5DC2,downstream_gene_variant,,ENST00000462261,;NT5DC2,downstream_gene_variant,,ENST00000478091,;STAB1,downstream_gene_variant,,ENST00000462681,;NT5DC2,downstream_gene_variant,,ENST00000466112,;NT5DC2,downstream_gene_variant,,ENST00000486792,;STAB1,downstream_gene_variant,,ENST00000481626,;NT5DC2,downstream_gene_variant,,ENST00000469616,;	7711	106	75	SUCCESS
TMF1	7110	.	GRCh37	3	69097137	69097137	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	119	0	ENST00000398559.2:c.719A>G	p.Asn240Ser	p.N240S	ENST00000398559		240	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS43105.1	719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTATTGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285	.	.	ENSP00000381567	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000398559	Transcript	.	.	ENSG00000144747	11870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.63)	.	deleterious_low_confidence(0.01)	.	TMF1_HUMAN	TMF1	HGNC	.	.	UPI000013D9A7	SNV	TMF1,missense_variant,p.Asn240Ser,ENST00000398559,;TMF1,missense_variant,p.Asn240Ser,ENST00000543976,;MIR3136,downstream_gene_variant,,ENST00000583498,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000596732,;CTD-2013N24.2,intron_variant,,ENST00000598783,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,intron_variant,,ENST00000596274,;TMF1,missense_variant,p.Asn240Ser,ENST00000488010,;TMF1,upstream_gene_variant,,ENST00000477872,;	936	119	132	SUCCESS
ROBO1	6091	.	GRCh37	3	79639035	79639036	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	12	79	0	ENST00000464233.1:c.26dup	p.Leu9PhefsTer24	p.L9Ffs*24	ENST00000464233	NM_002941.3	9	ttg/ttTg	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS54611.1	26-27	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGACCAAAAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000420321	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	insertion	ROBO1,frameshift_variant,p.Leu9PhefsTer24,ENST00000464233,;ROBO1,frameshift_variant,p.Leu9PhefsTer27,ENST00000492990,;	140-141	79	101	SUCCESS
LMCD1	29995	.	GRCh37	3	8574486	8574524	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCGGGCTTCGAGCCACATTCATGGAGGTAACAGATTTTG	TCGGGCTTCGAGCCACATTCATGGAGGTAACAGATTTTG	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	TCGGGCTTCGAGCCACATTCATGGAGGTAACAGATTTTG	TCGGGCTTCGAGCCACATTCATGGAGGTAACAGATTTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	125	0	ENST00000157600.3:c.108_131+15del		p.X36_splice	ENST00000157600	NM_014583.3	36		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33688.1	106-?	VARSCANI*|PINDEL	.	ACGTGTTCGGGCTTCGAGCCACATTCATGGAGGTAACAGATTTTGTCAGG	NONE	.	.	.	.	.	ENSP00000157600	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000157600	Transcript	.	.	ENSG00000071282	6633	2	.	HIGH	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMCD1_HUMAN	LMCD1	HGNC	B4DG80_HUMAN	.	UPI000012E774	deletion	LMCD1,splice_donor_variant,,ENST00000157600,;LMCD1,splice_donor_variant,,ENST00000535732,;LMCD1,splice_donor_variant,,ENST00000415597,;LMCD1,splice_donor_variant,,ENST00000397386,;LMCD1,intron_variant,,ENST00000454244,;LMCD1,upstream_gene_variant,,ENST00000426878,;LMCD1-AS1,intron_variant,,ENST00000439407,;LMCD1,splice_donor_variant,,ENST00000470776,;LMCD1,splice_donor_variant,,ENST00000456506,;	338-?	125	66	SUCCESS
EDNRA	1909	.	GRCh37	4	148407203	148407203	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	6	110	1	ENST00000324300.5:c.370C>G	p.Leu124Val	p.L124V	ENST00000324300	NM_001957.3	124	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3769.1	370	MUTECT|MUSE	.	TTGCCCTTGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF31,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000315011	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000324300	Transcript	1	.	ENSG00000151617	3179	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	.	deleterious(0.03)	.	EDNRA_HUMAN	EDNRA	HGNC	.	.	UPI00000503F9	SNV	EDNRA,missense_variant,p.Leu124Val,ENST00000339690,;EDNRA,missense_variant,p.Leu124Val,ENST00000358556,;EDNRA,missense_variant,p.Leu124Val,ENST00000324300,;EDNRA,missense_variant,p.Leu124Val,ENST00000506066,;EDNRA,intron_variant,,ENST00000511804,;EDNRA,non_coding_transcript_exon_variant,,ENST00000514245,;EDNRA,missense_variant,p.Leu124Val,ENST00000510697,;	885	111	85	SUCCESS
NAAA	27163	.	GRCh37	4	76857288	76857288	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	9	63	0	ENST00000286733.4:c.472G>T	p.Asp158Tyr	p.D158Y	ENST00000286733	NM_014435.3	158	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS43239.1	472	RADIA|MUSE|VARSCANS	.	CACATCCACTG	NONE	.	.	PIRSF_domain:PIRSF017632,Pfam_domain:PF02275	.	.	ENSP00000286733	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000286733	Transcript	.	.	ENSG00000138744	736	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	NAAA_HUMAN	NAAA	HGNC	.	.	UPI00001AEAEE	SNV	NAAA,missense_variant,p.Asp33Tyr,ENST00000602782,;NAAA,missense_variant,p.Asp158Tyr,ENST00000507956,;NAAA,missense_variant,p.Asp158Tyr,ENST00000507187,;NAAA,missense_variant,p.Asp158Tyr,ENST00000286733,;NAAA,missense_variant,p.Asp57Tyr,ENST00000505594,;NAAA,missense_variant,p.Asp158Tyr,ENST00000399497,;SDAD1,downstream_gene_variant,,ENST00000502543,;NAAA,downstream_gene_variant,,ENST00000507940,;NAAA,downstream_gene_variant,,ENST00000503636,;	574	63	63	SUCCESS
NUP54	53371	.	GRCh37	4	77069540	77069540	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs759200737	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	129	0	ENST00000264883.3:c.-13C>T		p.*5*	ENST00000264883	NM_001278603.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3576.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGGAGAC	NONE	.	.	.	.	.	ENSP00000264883	.	1/12	.	.	.	.	.	.	.	.	rs759200737	1/12	PASS	ENST00000264883	Transcript	.	.	ENSG00000138750	17359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP54_HUMAN	NUP54	HGNC	Q53H29_HUMAN,E7EUM5_HUMAN	.	UPI0000036166	SNV	NUP54,5_prime_UTR_variant,,ENST00000514987,;NUP54,5_prime_UTR_variant,,ENST00000514901,;NUP54,5_prime_UTR_variant,,ENST00000342467,;NUP54,5_prime_UTR_variant,,ENST00000458189,;NUP54,5_prime_UTR_variant,,ENST00000264883,;NUP54,non_coding_transcript_exon_variant,,ENST00000508583,;NUP54,upstream_gene_variant,,ENST00000510884,;NUP54,upstream_gene_variant,,ENST00000506098,;NUP54,upstream_gene_variant,,ENST00000515460,;NUP54,upstream_gene_variant,,ENST00000510569,;NUP54,upstream_gene_variant,,ENST00000514307,;NUP54,5_prime_UTR_variant,,ENST00000507257,;NUP54,5_prime_UTR_variant,,ENST00000512151,;NUP54,5_prime_UTR_variant,,ENST00000502850,;NUP54,5_prime_UTR_variant,,ENST00000513352,;NUP54,non_coding_transcript_exon_variant,,ENST00000504173,;	129	129	94	SUCCESS
TSLP	85480	.	GRCh37	5	110409217	110409217	+	synonymous_variant	Silent	SNP	C	C	T	rs1561691152	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	16	93	0	ENST00000344895.3:c.225C>T	p.Cys75=	p.C75=	ENST00000344895	NM_033035.4	75	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS4101.1	225	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCCTTAC	NONE	.	.	Pfam_domain:PF15216	.	.	ENSP00000339804	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000344895	Transcript	.	.	ENSG00000145777	30743	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSLP_HUMAN	TSLP	HGNC	Q96AU7_HUMAN,G3XAM8_HUMAN	.	UPI000006DB21	SNV	TSLP,synonymous_variant,p.%3D,ENST00000420978,;TSLP,synonymous_variant,p.%3D,ENST00000344895,;TSLP,5_prime_UTR_variant,,ENST00000379706,;CTC-551A13.2,downstream_gene_variant,,ENST00000507269,;	424	93	129	SUCCESS
TSSK1B	83942	.	GRCh37	5	112769739	112769739	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	39	0	ENST00000390666.3:c.798C>A	p.Ile266=	p.I266=	ENST00000390666	NM_032028.3	266	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4112.1	798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGATCTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000375081	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390666	Transcript	.	.	ENSG00000212122	14968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSSK1_HUMAN	TSSK1B	HGNC	A0ZT98_HUMAN	.	UPI000003C96E	SNV	TSSK1B,synonymous_variant,p.%3D,ENST00000390666,;MCC,intron_variant,,ENST00000408903,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000383058,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	990	39	54	SUCCESS
GPRIN1	114787	.	GRCh37	5	176026296	176026296	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	12	101	0	ENST00000303991.4:c.540G>A	p.Met180Ile	p.M180I	ENST00000303991	NM_052899.2	180	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4405.1	540	MUTECT|MUSE|VARSCANS	.	GTAAACATGGG	NONE	.	.	hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30	.	.	ENSP00000305839	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303991	Transcript	.	.	ENSG00000169258	24835	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.27)	.	GRIN1_HUMAN	GPRIN1	HGNC	.	.	UPI0000246D49	SNV	GPRIN1,missense_variant,p.Met180Ile,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000261944,;CDHR2,downstream_gene_variant,,ENST00000506348,;CDHR2,downstream_gene_variant,,ENST00000510636,;	718	101	128	SUCCESS
SLC16A10	117247	.	GRCh37	6	111540208	111540208	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	78	191	0	ENST00000368851.5:c.1278C>T	p.Phe426=	p.F426=	ENST00000368851	NM_018593.4	426	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS5089.1	1278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATTCATGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF119,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000357844	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368851	Transcript	.	.	ENSG00000112394	17027	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOT10_HUMAN	SLC16A10	HGNC	Q9P1I2_HUMAN	.	UPI00000497DB	SNV	SLC16A10,synonymous_variant,p.%3D,ENST00000368850,;SLC16A10,synonymous_variant,p.%3D,ENST00000368851,;	1453	191	187	SUCCESS
IL20RA	53832	.	GRCh37	6	137323486	137323486	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	67	0	ENST00000316649.5:c.871A>G	p.Ile291Val	p.I291V	ENST00000316649	NM_014432.3	291	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5181.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATCAAAA	NONE	.	.	hmmpanther:PTHR20859:SF21,hmmpanther:PTHR20859	.	.	ENSP00000314976	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316649	Transcript	.	.	ENSG00000016402	6003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	.	tolerated(0.12)	.	I20RA_HUMAN	IL20RA	HGNC	F5H675_HUMAN	.	UPI000006FA41	SNV	IL20RA,missense_variant,p.Ile180Val,ENST00000367748,;IL20RA,missense_variant,p.Ile242Val,ENST00000541547,;IL20RA,missense_variant,p.Ile291Val,ENST00000316649,;RP11-204P2.3,downstream_gene_variant,,ENST00000458017,;IL20RA,downstream_gene_variant,,ENST00000468393,;	1107	67	71	SUCCESS
CAP2	10486	.	GRCh37	6	17514129	17514129	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	78	0	ENST00000229922.2:c.580G>C	p.Glu194Gln	p.E194Q	ENST00000229922	NM_006366.2	194	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4539.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGAACTT	NONE	.	.	hmmpanther:PTHR10652,hmmpanther:PTHR10652:SF2,Pfam_domain:PF01213,Superfamily_domains:0043456	.	.	ENSP00000229922	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000229922	Transcript	.	.	ENSG00000112186	20039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	tolerated(0.07)	.	CAP2_HUMAN	CAP2	HGNC	.	.	UPI0000126EC6	SNV	CAP2,missense_variant,p.Glu168Gln,ENST00000378990,;CAP2,missense_variant,p.Glu194Gln,ENST00000229922,;CAP2,intron_variant,,ENST00000465994,;CAP2,intron_variant,,ENST00000489374,;CAP2,intron_variant,,ENST00000493172,;CAP2,missense_variant,p.Glu168Gln,ENST00000479291,;CAP2,3_prime_UTR_variant,,ENST00000476263,;	1112	79	65	SUCCESS
FAM65B	0	.	GRCh37	6	24847845	24847845	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	27	0	ENST00000259698.4:c.1152del	p.Lys385SerfsTer22	p.K385Sfs*22	ENST00000259698	NM_014722.2	384	gcC/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS47383.1	1152	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCTTGGCAAA	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2	.	.	ENSP00000259698	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000259698	Transcript	.	.	ENSG00000111913	13872	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA65B_HUMAN	FAM65B	HGNC	H3BP45_HUMAN	.	UPI0000EE554D	deletion	FAM65B,frameshift_variant,p.Lys385SerfsTer22,ENST00000259698,;FAM65B,intron_variant,,ENST00000538035,;FAM65B,intron_variant,,ENST00000378023,;FAM65B,intron_variant,,ENST00000540914,;FAM65B,intron_variant,,ENST00000510784,;FAM65B,upstream_gene_variant,,ENST00000473070,;	1328	27	37	SUCCESS
TTBK1	84630	.	GRCh37	6	43250675	43250675	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs543120452	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	52	0	ENST00000259750.4:c.2197G>T	p.Glu733Ter	p.E733*	ENST00000259750	NM_032538.1	733	Gag/Tag	0	.	A:0.0008	.	A:0	.	T	E/*	protein_coding	YES	CCDS34455.1	2197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGAGGAA	NONE	by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	A:0	.	ENSP00000259750	A:0	14/15	.	.	.	.	.	.	.	.	rs543120452	14/15	PASS	ENST00000259750	Transcript	.	A:0.0002	ENSG00000146216	19140	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,stop_gained,p.Glu733Ter,ENST00000259750,;	2280	52	61	SUCCESS
FHL5	9457	.	GRCh37	6	97053845	97053845	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	111	0	ENST00000326771.2:c.402A>G	p.Arg134=	p.R134=	ENST00000326771	NM_020482.4	134	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS5035.1	402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGACAACC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF6,hmmpanther:PTHR24205,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000326022	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000326771	Transcript	.	.	ENSG00000112214	17371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHL5_HUMAN	FHL5	HGNC	.	.	UPI000006F158	SNV	FHL5,synonymous_variant,p.%3D,ENST00000450218,;FHL5,synonymous_variant,p.%3D,ENST00000541107,;FHL5,synonymous_variant,p.%3D,ENST00000326771,;	782	111	119	SUCCESS
GNB2	2783	.	GRCh37	7	100275413	100275413	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1446422421	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	43	0	ENST00000303210.4:c.469A>G	p.Ile157Val	p.I157V	ENST00000303210	NM_005273.3	157	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5703.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAATCATC	NONE	.	.	Prints_domain:PR00320,Superfamily_domains:SSF50978,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Pfam_domain:PF00400,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR19850:SF27,hmmpanther:PTHR19850,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000305260	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000303210	Transcript	.	.	ENSG00000172354	4398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.05)	.	GBB2_HUMAN	GNB2	HGNC	Q6FHM2_HUMAN,E7EP32_HUMAN,C9JZN1_HUMAN,C9JXA5_HUMAN,C9JIS1_HUMAN,B3KPU1_HUMAN	.	UPI0000000934	SNV	GNB2,missense_variant,p.Ile157Val,ENST00000393926,;GNB2,missense_variant,p.Ile57Val,ENST00000419828,;GNB2,missense_variant,p.Ile57Val,ENST00000427895,;GNB2,missense_variant,p.Ile157Val,ENST00000431068,;GNB2,missense_variant,p.Ile157Val,ENST00000451587,;GNB2,missense_variant,p.Ile157Val,ENST00000303210,;GNB2,missense_variant,p.Ile157Val,ENST00000393924,;GNB2,missense_variant,p.Ile113Val,ENST00000424361,;GNB2,missense_variant,p.Ile113Val,ENST00000436220,;GIGYF1,downstream_gene_variant,,ENST00000275732,;GNB2,downstream_gene_variant,,ENST00000412215,;GNB2,non_coding_transcript_exon_variant,,ENST00000470354,;GNB2,non_coding_transcript_exon_variant,,ENST00000469287,;GNB2,downstream_gene_variant,,ENST00000480159,;	951	43	54	SUCCESS
GPR85	54329	.	GRCh37	7	112724843	112724843	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	38	94	0	ENST00000297146.3:c.-67T>A		p.*23*	ENST00000297146	NM_001146266.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5758.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAAGATAG	NONE	.	.	.	.	.	ENSP00000297146	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297146	Transcript	.	.	ENSG00000164604	4536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR85_HUMAN	GPR85	HGNC	C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN	.	UPI0000004048	SNV	GPR85,5_prime_UTR_variant,,ENST00000297146,;GPR85,5_prime_UTR_variant,,ENST00000438062,;GPR85,5_prime_UTR_variant,,ENST00000449735,;GPR85,5_prime_UTR_variant,,ENST00000501255,;GPR85,5_prime_UTR_variant,,ENST00000424100,;GPR85,5_prime_UTR_variant,,ENST00000449591,;GPR85,non_coding_transcript_exon_variant,,ENST00000487573,;GPR85,5_prime_UTR_variant,,ENST00000610164,;	538	94	110	SUCCESS
NDUFA5	4698	.	GRCh37	7	123197496	123197496	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	92	0	ENST00000355749.2:c.28G>T	p.Gly10Cys	p.G10C	ENST00000355749	NM_005000.2	10	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5788.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCAGTGG	NONE	.	.	hmmpanther:PTHR12653	.	.	ENSP00000347988	.	2/5	.	.	.	.	.	.	.	.	COSM421618	2/5	PASS	ENST00000355749	Transcript	.	.	ENSG00000128609	7688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	NDUA5_HUMAN	NDUFA5	HGNC	.	.	UPI000015A49C	SNV	NDUFA5,missense_variant,p.Gly20Cys,ENST00000470123,;NDUFA5,missense_variant,p.Gly10Cys,ENST00000471770,;NDUFA5,missense_variant,p.Gly6Cys,ENST00000378795,;NDUFA5,missense_variant,p.Gly10Cys,ENST00000355749,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000467117,;NDUFA5,missense_variant,p.Gly10Cys,ENST00000466896,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000491033,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000490618,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000492549,;	488	92	98	SUCCESS
POT1	25913	.	GRCh37	7	124475442	124475442	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	82	0	ENST00000357628.3:c.1396C>T	p.Leu466Phe	p.L466F	ENST00000357628	NM_015450.2	466	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS5793.1	1396	RADIA|MUSE|VARSCANS	.	CGAGAGTTTGC	NONE	.	.	hmmpanther:PTHR14513:SF2,hmmpanther:PTHR14513	.	.	ENSP00000350249	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000357628	Transcript	.	.	ENSG00000128513	17284	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	POTE1_HUMAN	POT1	HGNC	C9JPG9_HUMAN,A8MTK3_HUMAN	.	UPI0000073E3F	SNV	POT1,missense_variant,p.Leu335Phe,ENST00000393329,;POT1,missense_variant,p.Leu466Phe,ENST00000357628,;POT1,missense_variant,p.Leu466Phe,ENST00000607932,;POT1,missense_variant,p.Leu466Phe,ENST00000609106,;POT1,3_prime_UTR_variant,,ENST00000608057,;	1995	82	82	SUCCESS
PLXNA4	91584	.	GRCh37	7	131925877	131925877	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	74	0	ENST00000321063.4:c.1552G>T	p.Glu518Ter	p.E518*	ENST00000321063	NM_020911.1	518	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS43646.1	1552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCGCCGC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Gene3D:3.30.1680.10,Pfam_domain:PF01437,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000352882	.	5/32	.	.	.	.	.	.	.	.	COSM3633439,COSM3633440	5/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,stop_gained,p.Glu518Ter,ENST00000321063,;PLXNA4,stop_gained,p.Glu518Ter,ENST00000359827,;	2515	74	69	SUCCESS
TAS2R38	5726	.	GRCh37	7	141673256	141673256	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	70	0	ENST00000547270.1:c.234T>C	p.Leu78=	p.L78=	ENST00000547270	NM_176817.4	78	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34765.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTAAGCTG	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF52,hmmpanther:PTHR11394	.	.	ENSP00000448219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000547270	Transcript	.	.	ENSG00000257138	9584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R38_HUMAN	TAS2R38	HGNC	Q50KM3_HUMAN,Q50KM1_HUMAN	.	UPI000000D825	SNV	TAS2R38,synonymous_variant,p.%3D,ENST00000547270,;MGAM,intron_variant,,ENST00000465654,;	318	70	67	SUCCESS
NOBOX	135935	.	GRCh37	7	144096113	144096113	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	128	0	ENST00000467773.1:c.1399C>A	p.Pro467Thr	p.P467T	ENST00000467773	NM_001080413.3	467	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	.	1399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGCATCA	NONE	.	.	hmmpanther:PTHR24329:SF282,hmmpanther:PTHR24329	.	.	ENSP00000419457	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000467773	Transcript	.	.	ENSG00000106410	22448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	NOBOX_HUMAN	NOBOX	HGNC	.	.	UPI00019B220B	SNV	NOBOX,missense_variant,p.Pro350Thr,ENST00000223140,;NOBOX,missense_variant,p.Pro435Thr,ENST00000483238,;NOBOX,missense_variant,p.Pro467Thr,ENST00000467773,;	1399	128	87	SUCCESS
INSIG1	3638	.	GRCh37	7	155093275	155093275	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	96	0	ENST00000340368.4:c.413-1G>C		p.X138_splice	ENST00000340368	NM_005542.4	138		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5938.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGCTGTT	NONE	.	.	.	.	.	ENSP00000344741	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340368	Transcript	.	.	ENSG00000186480	6083	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSI1_HUMAN	INSIG1	HGNC	C9JSG8_HUMAN	.	UPI00000015DE	SNV	INSIG1,splice_acceptor_variant,,ENST00000340368,;INSIG1,splice_acceptor_variant,,ENST00000476756,;INSIG1,intron_variant,,ENST00000344756,;INSIG1,intron_variant,,ENST00000342407,;INSIG1,downstream_gene_variant,,ENST00000425172,;AC144652.1,upstream_gene_variant,,ENST00000609974,;INSIG1,upstream_gene_variant,,ENST00000468307,;	.	96	65	SUCCESS
HOXA3	3200	.	GRCh37	7	27150183	27150183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	13	0	ENST00000317201.2:c.77A>G	p.Tyr26Cys	p.Y26C	ENST00000317201	NM_153631.2	26	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5404.1	77	MUTECT|MUSE	.	CATTATAAGCG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137	.	.	ENSP00000379640	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000396352	Transcript	.	.	ENSG00000105997	5104	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.429)	.	deleterious(0)	.	HXA3_HUMAN	HOXA3	HGNC	F2Z3A4_HUMAN,E5RIJ8_HUMAN,A4D182_HUMAN	.	UPI000012CF22	SNV	HOXA3,missense_variant,p.Tyr26Cys,ENST00000396352,;HOXA3,missense_variant,p.Tyr26Cys,ENST00000522456,;HOXA3,missense_variant,p.Tyr26Cys,ENST00000317201,;HOXA3,missense_variant,p.Tyr26Cys,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000521779,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA-AS2,upstream_gene_variant,,ENST00000517635,;HOXA-AS2,upstream_gene_variant,,ENST00000522193,;HOXA-AS2,upstream_gene_variant,,ENST00000518046,;HOXA3,downstream_gene_variant,,ENST00000521401,;	277	13	16	SUCCESS
HOXA6	3203	.	GRCh37	7	27185389	27185389	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1454642111	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	76	0	ENST00000222728.3:c.590G>A	p.Arg197His	p.R197H	ENST00000222728	NM_024014.3	197	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5407.1	590	MUTECT|MUSE|VARSCANS	.	TCTGGCGCTCG	NONE	.	.	Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,PROSITE_patterns:PS00027,hmmpanther:PTHR24326:SF142,hmmpanther:PTHR24326,PROSITE_profiles:PS50071	.	.	ENSP00000222728	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000222728	Transcript	.	.	ENSG00000106006	5107	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	HXA6_HUMAN	HOXA6	HGNC	.	.	UPI000012CF32	SNV	HOXA6,missense_variant,p.Arg197His,ENST00000222728,;HOXA5,upstream_gene_variant,,ENST00000222726,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	615	76	61	SUCCESS
ZNF733P	643955	.	GRCh37	7	62753070	62753070	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	28	108	0	ENST00000444809.1:n.399G>C		p.*133*	ENST00000444809				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	ACCCACACTTT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000444809	Transcript	.	.	ENSG00000185037	32473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF733P	HGNC	.	.	.	SNV	ZNF733P,non_coding_transcript_exon_variant,,ENST00000331425,;ZNF733P,non_coding_transcript_exon_variant,,ENST00000444809,;	399	109	104	SUCCESS
EIF4H	7458	.	GRCh37	7	73609125	73609125	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	70	0	ENST00000265753.8:c.524G>T	p.Arg175Leu	p.R175L	ENST00000265753	NM_022170.1	175	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS5564.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGAACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23236	.	.	ENSP00000265753	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000265753	Transcript	.	.	ENSG00000106682	12741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.65)	.	IF4H_HUMAN	EIF4H	HGNC	Q75MU2_HUMAN,Q75MU1_HUMAN,Q75MT8_HUMAN	.	UPI000012D373	SNV	EIF4H,missense_variant,p.Arg175Leu,ENST00000265753,;EIF4H,missense_variant,p.Arg155Leu,ENST00000353999,;LAT2,upstream_gene_variant,,ENST00000465116,;MIR590,downstream_gene_variant,,ENST00000385008,;EIF4H,non_coding_transcript_exon_variant,,ENST00000495187,;EIF4H,downstream_gene_variant,,ENST00000489484,;EIF4H,downstream_gene_variant,,ENST00000479338,;	663	70	58	SUCCESS
PHTF2	57157	.	GRCh37	7	77551943	77551943	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	82	0	ENST00000248550.7:c.967A>G	p.Thr323Ala	p.T323A	ENST00000248550		323	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47621.1	865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATACCCAA	NONE	.	.	hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.9)	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,missense_variant,p.Thr289Ala,ENST00000450574,;PHTF2,missense_variant,p.Thr289Ala,ENST00000416283,;PHTF2,missense_variant,p.Thr289Ala,ENST00000422959,;PHTF2,missense_variant,p.Thr323Ala,ENST00000248550,;PHTF2,missense_variant,p.Thr285Ala,ENST00000415251,;PHTF2,missense_variant,p.Thr285Ala,ENST00000307305,;PHTF2,missense_variant,p.Thr285Ala,ENST00000275575,;PHTF2,missense_variant,p.Thr285Ala,ENST00000424760,;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;PHTF2,non_coding_transcript_exon_variant,,ENST00000468351,;	991	82	57	SUCCESS
ZNF804B	219578	.	GRCh37	7	88963648	88963648	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	95	0	ENST00000333190.4:c.1352G>T	p.Gly451Val	p.G451V	ENST00000333190	NM_181646.2	451	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5613.1	1352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGCCACA	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Gly451Val,ENST00000333190,;	1961	95	94	SUCCESS
DCSTAMP	81501	.	GRCh37	8	105361460	105361460	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763207658	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	43	0	ENST00000297581.2:c.680C>A	p.Thr227Asn	p.T227N	ENST00000297581	NM_030788.3	227	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS6301.1	680	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACTGGCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	.	.	ENSP00000297581	.	2/4	.	.	.	.	.	.	.	.	rs763207658	2/4	PASS	ENST00000297581	Transcript	.	.	ENSG00000164935	18549	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DCSTP_HUMAN	DCSTAMP	HGNC	.	.	UPI000003BCB5	SNV	DCSTAMP,missense_variant,p.Thr227Asn,ENST00000297581,;DCSTAMP,missense_variant,p.Thr227Asn,ENST00000517991,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000518023,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	729	43	95	SUCCESS
ZFHX4	79776	.	GRCh37	8	77766040	77766041	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	122	59	83	0	ENST00000521891.2:c.6889dup	p.Arg2297LysfsTer5	p.R2297Kfs*5	ENST00000521891	NM_024721.4	2295	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS47878.2	6883-6884	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAATGAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	insertion	ZFHX4,frameshift_variant,p.Arg2252LysfsTer5,ENST00000455469,;ZFHX4,frameshift_variant,p.Arg2271LysfsTer5,ENST00000518282,;ZFHX4,frameshift_variant,p.Arg2252LysfsTer5,ENST00000050961,;ZFHX4,frameshift_variant,p.Arg2297LysfsTer5,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	7331-7332	83	181	SUCCESS
KIAA0368	0	.	GRCh37	9	114188030	114188030	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	50	0	ENST00000259335.4:c.1663del	p.Cys555ValfsTer2	p.C555Vfs*2	ENST00000259335	NM_001080398.1	555	Tgt/gt	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS48006.1	1663	VARSCANI*|PINDEL	.	TTATACAAATAT	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Pfam_domain:PF13001,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	12/51	.	.	.	.	.	.	.	.	.	12/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	deletion	KIAA0368,frameshift_variant,p.Cys377ValfsTer2,ENST00000338205,;KIAA0368,frameshift_variant,p.Cys383ValfsTer2,ENST00000602447,;KIAA0368,frameshift_variant,p.Cys555ValfsTer2,ENST00000259335,;	1663	50	41	SUCCESS
SURF4	6836	.	GRCh37	9	136234218	136234218	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	36	0	ENST00000371989.3:c.152A>T	p.Gln51Leu	p.Q51L	ENST00000371989	NM_001280789.1	51	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6968.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCTGCTCG	NONE	.	.	hmmpanther:PTHR23427:SF1,hmmpanther:PTHR23427,Pfam_domain:PF02077	.	.	ENSP00000361057	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000371989	Transcript	.	.	ENSG00000148248	11476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SURF4_HUMAN	SURF4	HGNC	B7Z1G8_HUMAN	.	UPI000013623A	SNV	SURF4,missense_variant,p.Gln51Leu,ENST00000545297,;SURF4,missense_variant,p.Gln51Leu,ENST00000371989,;SURF4,missense_variant,p.Gln51Leu,ENST00000371991,;SURF4,missense_variant,p.Gln51Leu,ENST00000485435,;SURF4,non_coding_transcript_exon_variant,,ENST00000467910,;SURF4,non_coding_transcript_exon_variant,,ENST00000371982,;SURF4,upstream_gene_variant,,ENST00000465565,;	282	36	33	SUCCESS
COL5A1	1289	.	GRCh37	9	137630606	137630606	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	75	0	ENST00000371817.3:c.1446T>C	p.Pro482=	p.P482=	ENST00000371817	NM_001278074.1	482	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6982.1	1446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTCCAGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	.	ENSP00000360882	.	11/66	.	.	.	.	.	.	.	.	.	11/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,synonymous_variant,p.%3D,ENST00000371817,;	1860	75	59	SUCCESS
TMEM215	401498	.	GRCh37	9	32784555	32784555	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	60	0	ENST00000342743.5:c.374G>A	p.Ser125Asn	p.S125N	ENST00000342743	NM_212558.2	125	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS6530.1	374	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGCCAGG	NONE	.	.	hmmpanther:PTHR31922	.	.	ENSP00000345468	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342743	Transcript	.	.	ENSG00000188133	33816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.43)	.	TM215_HUMAN	TMEM215	HGNC	.	.	UPI0000049371	SNV	TMEM215,missense_variant,p.Ser125Asn,ENST00000342743,;	739	60	35	SUCCESS
SUSD3	203328	.	GRCh37	9	95846880	95846880	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	42	0	ENST00000375472.3:c.619G>A	p.Gly207Arg	p.G207R	ENST00000375472	NM_145006.2	207	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6701.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGGGATC	NONE	.	.	.	.	.	ENSP00000364621	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375472	Transcript	.	.	ENSG00000157303	28391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.88)	.	SUSD3_HUMAN	SUSD3	HGNC	.	.	UPI0000070B4A	SNV	SUSD3,missense_variant,p.Gly207Arg,ENST00000375472,;SUSD3,missense_variant,p.Gly194Arg,ENST00000375469,;SUSD3,missense_variant,p.Gly132Arg,ENST00000465709,;SUSD3,missense_variant,p.Gly71Arg,ENST00000471462,;	655	42	34	SUCCESS
ARMCX1	51309	.	GRCh37	X	100807839	100807839	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	15	19	0	ENST00000372829.3:c.-75C>T		p.*25*	ENST00000372829	NM_016608.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCGACGT	NONE	.	.	.	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,5_prime_UTR_variant,,ENST00000372829,;	297	19	20	SUCCESS
HCFC1	3054	.	GRCh37	X	153224782	153224782	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	25	44	0	ENST00000310441.7:c.1605G>T		p.X535_splice	ENST00000310441	NM_005334.2	535	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS44020.1	1605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCGTTCC	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF266,SMART_domains:SM00060	.	.	ENSP00000309555	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000310441	Transcript	.	.	ENSG00000172534	4839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCFC1_HUMAN	HCFC1	HGNC	Q05C05_HUMAN	.	UPI0000142F1F	SNV	HCFC1,synonymous_variant,p.%3D,ENST00000369984,;HCFC1,synonymous_variant,p.%3D,ENST00000310441,;HCFC1,synonymous_variant,p.%3D,ENST00000354233,;HCFC1,downstream_gene_variant,,ENST00000461098,;	2572	44	41	SUCCESS
CD99	4267	.	GRCh37	X	2644348	2644348	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs188016181	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	92	0	ENST00000381192.3:c.409G>A	p.Ala137Thr	p.A137T	ENST00000381192	NM_001277710.1	137	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14119.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGCCGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF12301,hmmpanther:PTHR15076:SF12,hmmpanther:PTHR15076	.	.	ENSP00000370588	.	8/10	.	.	.	.	.	.	.	.	COSM3694519	8/10	PASS	ENST00000381192	Transcript	.	.	ENSG00000002586	7082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.798)	.	tolerated(0.73)	1	CD99_HUMAN	CD99	HGNC	.	.	UPI0000000C42	SNV	CD99,missense_variant,p.Ala121Thr,ENST00000381187,;CD99,missense_variant,p.Ala137Thr,ENST00000381184,;CD99,missense_variant,p.Ala180Thr,ENST00000449611,;CD99,missense_variant,p.Ala137Thr,ENST00000381192,;CD99,non_coding_transcript_exon_variant,,ENST00000482293,;CD99,non_coding_transcript_exon_variant,,ENST00000482405,;CD99,downstream_gene_variant,,ENST00000497752,;CD99,upstream_gene_variant,,ENST00000381177,;	591	92	76	SUCCESS
TDRD1	56165	.	GRCh37	10	115987675	115987675	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	46	0	ENST00000251864.2:c.3410T>C	p.Met1137Thr	p.M1137T	ENST00000251864	NM_198795.1	1137	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS7588.1	3410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATGTATA	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4	.	.	ENSP00000251864	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.7)	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,missense_variant,p.Met1061Thr,ENST00000369282,;TDRD1,missense_variant,p.Met1023Thr,ENST00000369281,;TDRD1,missense_variant,p.Met1137Thr,ENST00000251864,;TDRD1,missense_variant,p.Met1061Thr,ENST00000369280,;TDRD1,missense_variant,p.Met665Thr,ENST00000422662,;	3563	46	36	SUCCESS
COL13A1	1305	.	GRCh37	10	71700763	71700763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	75	0	ENST00000398978.3:c.1865G>A	p.Gly622Asp	p.G622D	ENST00000398978	NM_001130103.1	622	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS44419.1	1865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGGCAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000381949	.	34/40	.	.	.	.	.	.	.	.	.	34/40	PASS	ENST00000398978	Transcript	.	.	ENSG00000197467	2190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CODA1_HUMAN	COL13A1	HGNC	Q9UP45_HUMAN	.	UPI000046FD72	SNV	COL13A1,missense_variant,p.Gly600Asp,ENST00000354547,;COL13A1,missense_variant,p.Gly152Asp,ENST00000398975,;COL13A1,missense_variant,p.Gly622Asp,ENST00000398978,;COL13A1,missense_variant,p.Gly593Asp,ENST00000398964,;COL13A1,missense_variant,p.Gly607Asp,ENST00000398971,;COL13A1,missense_variant,p.Gly600Asp,ENST00000398966,;COL13A1,missense_variant,p.Gly550Asp,ENST00000398969,;COL13A1,missense_variant,p.Gly550Asp,ENST00000520267,;COL13A1,missense_variant,p.Gly603Asp,ENST00000398968,;COL13A1,missense_variant,p.Gly610Asp,ENST00000398974,;COL13A1,missense_variant,p.Gly622Asp,ENST00000356340,;COL13A1,missense_variant,p.Gly608Asp,ENST00000398972,;COL13A1,intron_variant,,ENST00000517713,;COL13A1,intron_variant,,ENST00000398973,;COL13A1,intron_variant,,ENST00000456019,;COL13A1,intron_variant,,ENST00000520133,;COL13A1,intron_variant,,ENST00000522165,;COL13A1,intron_variant,,ENST00000357811,;COL13A1,upstream_gene_variant,,ENST00000518052,;COL13A1,intron_variant,,ENST00000479733,;	2357	75	65	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123483491	123483491	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	94	0	ENST00000529750.1:c.1513C>A	p.Arg505=	p.R505=	ENST00000529750	NM_020716.1	505	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS53720.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATCGAAAA	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,synonymous_variant,p.%3D,ENST00000322282,;GRAMD1B,synonymous_variant,p.%3D,ENST00000529750,;GRAMD1B,synonymous_variant,p.%3D,ENST00000456860,;GRAMD1B,synonymous_variant,p.%3D,ENST00000529432,;GRAMD1B,synonymous_variant,p.%3D,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;	1840	94	110	SUCCESS
MUC5B	727897	.	GRCh37	11	1262923	1262923	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	117	0	ENST00000529681.1:c.4813G>A	p.Gly1605Arg	p.G1605R	ENST00000529681	NM_002458.2	1605	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS44515.2	4813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGGACGT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Gly1605Arg,ENST00000529681,;MUC5B,missense_variant,p.Gly1608Arg,ENST00000447027,;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	4871	117	89	SUCCESS
PPP1CA	5499	.	GRCh37	11	67166225	67166225	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	97	0	ENST00000376745.4:c.850A>G	p.Ser284Gly	p.S284G	ENST00000376745	NM_001008709.1	284	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS31618.1	883	MUTECT|MUSE	.	CACACTCATCA	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300	.	.	ENSP00000326031	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000312989	Transcript	.	.	ENSG00000172531	9281	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.294)	.	deleterious_low_confidence(0.02)	.	PP1A_HUMAN	PPP1CA	HGNC	C4TNW6_HUMAN,C4TNW5_HUMAN,C0STL0_HUMAN	.	UPI0000070A42	SNV	PPP1CA,missense_variant,p.Ser240Gly,ENST00000358239,;PPP1CA,missense_variant,p.Ser284Gly,ENST00000376745,;PPP1CA,missense_variant,p.Ser249Gly,ENST00000527663,;PPP1CA,missense_variant,p.Ser295Gly,ENST00000312989,;PPP1CA,downstream_gene_variant,,ENST00000542876,;RAD9A,downstream_gene_variant,,ENST00000544620,;PPP1CA,downstream_gene_variant,,ENST00000546202,;RAD9A,downstream_gene_variant,,ENST00000307980,;RNU6-1238P,upstream_gene_variant,,ENST00000517215,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532279,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532446,;PPP1CA,downstream_gene_variant,,ENST00000537694,;RAD9A,downstream_gene_variant,,ENST00000529100,;RAD9A,downstream_gene_variant,,ENST00000535644,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,downstream_gene_variant,,ENST00000529724,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000526510,;RAD9A,downstream_gene_variant,,ENST00000530934,;RAD9A,downstream_gene_variant,,ENST00000538013,;RAD9A,downstream_gene_variant,,ENST00000542139,;RAD9A,downstream_gene_variant,,ENST00000541132,;	894	97	69	SUCCESS
PDZRN4	29951	.	GRCh37	12	41966919	41966919	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	18	101	0	ENST00000402685.2:c.2338C>G	p.Gln780Glu	p.Q780E	ENST00000402685	NM_001164595.1	780	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS53777.1	2338	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCAGTCC	NONE	.	.	hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,Low_complexity_(Seg):seg	.	.	ENSP00000384197	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.08)	.	tolerated(1)	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,missense_variant,p.Gln520Glu,ENST00000298919,;PDZRN4,missense_variant,p.Gln522Glu,ENST00000539469,;PDZRN4,missense_variant,p.Gln780Glu,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	2346	101	115	SUCCESS
ERBB3	2065	.	GRCh37	12	56478884	56478884	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	115	0	ENST00000267101.3:c.340A>T	p.Lys114Ter	p.K114*	ENST00000267101	NM_001982.3	114	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31833.1	340	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGAAGTTT	NONE	.	.	hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058	.	.	ENSP00000267101	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,stop_gained,p.Lys114Ter,ENST00000549282,;ERBB3,stop_gained,p.Lys55Ter,ENST00000415288,;ERBB3,stop_gained,p.Lys55Ter,ENST00000549061,;ERBB3,stop_gained,p.Lys114Ter,ENST00000267101,;ERBB3,stop_gained,p.Lys55Ter,ENST00000549672,;ERBB3,stop_gained,p.Lys114Ter,ENST00000411731,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,stop_gained,p.Lys114Ter,ENST00000551242,;ERBB3,stop_gained,p.Lys114Ter,ENST00000551085,;ERBB3,non_coding_transcript_exon_variant,,ENST00000546884,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,upstream_gene_variant,,ENST00000549472,;ERBB3,upstream_gene_variant,,ENST00000551176,;ERBB3,upstream_gene_variant,,ENST00000546748,;	780	115	122	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72021636	72021636	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	80	0	ENST00000378743.3:c.4025A>T	p.Asn1342Ile	p.N1342I	ENST00000378743	NM_144982.4	1342	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS41813.1	4025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATTTGTA	NONE	.	.	hmmpanther:PTHR21563	.	.	ENSP00000368017	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.132)	.	deleterious(0.01)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.Asn1342Ile,ENST00000378743,;ZFC3H1,missense_variant,p.Asn1342Ile,ENST00000552994,;ZFC3H1,downstream_gene_variant,,ENST00000546606,;	4384	80	70	SUCCESS
IGHV3-21	28444	.	GRCh37	14	106691845	106691845	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	13	102	0	ENST00000390607.2:c.179C>A	p.Pro60Gln	p.P60Q	ENST00000390607		60	cCa/cAa	0	.	.	.	.	.	T	P/Q	IG_V_gene	YES	.	179	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGGAGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375016	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390607	Transcript	1	.	ENSG00000211947	5586	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.738)	.	deleterious_low_confidence(0.01)	.	.	IGHV3-21	HGNC	.	.	UPI000011AAD7	SNV	IGHV3-21,missense_variant,p.Pro60Gln,ENST00000390607,;	258	102	107	SUCCESS
RABGGTA	5875	.	GRCh37	14	24737122	24737122	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	21	163	1	ENST00000216840.6:c.1190C>A	p.Pro397His	p.P397H	ENST00000216840	NM_182836.2	397	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS45088.1	1190	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGGGTCC	NONE	.	.	PROSITE_profiles:PS51147,hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF2,Gene3D:1.25.40.120,Superfamily_domains:SSF48439	.	.	ENSP00000382341	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000399409	Transcript	.	.	ENSG00000100949	9795	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PGTA_HUMAN	RABGGTA	HGNC	H0YLG7_HUMAN,D3DS70_HUMAN	.	UPI000013188E	SNV	RABGGTA,missense_variant,p.Pro397His,ENST00000216840,;RABGGTA,missense_variant,p.Pro6His,ENST00000560777,;RABGGTA,missense_variant,p.Pro33His,ENST00000560521,;RABGGTA,missense_variant,p.Pro397His,ENST00000399409,;TGM1,upstream_gene_variant,,ENST00000560226,;TGM1,upstream_gene_variant,,ENST00000558074,;TGM1,upstream_gene_variant,,ENST00000544573,;TGM1,upstream_gene_variant,,ENST00000206765,;TGM1,upstream_gene_variant,,ENST00000560443,;TGM1,upstream_gene_variant,,ENST00000560478,;TGM1,upstream_gene_variant,,ENST00000561067,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560871,;RABGGTA,downstream_gene_variant,,ENST00000558954,;RABGGTA,downstream_gene_variant,,ENST00000558534,;RABGGTA,downstream_gene_variant,,ENST00000560163,;RABGGTA,downstream_gene_variant,,ENST00000559586,;RABGGTA,missense_variant,p.Pro397His,ENST00000559974,;RABGGTA,missense_variant,p.Pro33His,ENST00000560243,;RABGGTA,missense_variant,p.Pro397His,ENST00000558376,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000558649,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000543002,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559850,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560998,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559551,;RABGGTA,downstream_gene_variant,,ENST00000560207,;RABGGTA,downstream_gene_variant,,ENST00000558936,;RABGGTA,downstream_gene_variant,,ENST00000560127,;RABGGTA,upstream_gene_variant,,ENST00000561055,;	1674	164	136	SUCCESS
ABCD4	5826	.	GRCh37	14	74753419	74753419	+	synonymous_variant	Silent	SNP	C	C	T	rs761542324	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	55	1	ENST00000356924.4:c.1737G>A	p.Arg579=	p.R579=	ENST00000356924	NM_005050.3	579	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9828.1	1737	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCCGATG	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR11384:SF25,hmmpanther:PTHR11384,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000349396	.	18/19	.	.	.	.	.	.	.	.	rs761542324	18/19	PASS	ENST00000356924	Transcript	.	.	ENSG00000119688	68	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCD4_HUMAN	ABCD4	HGNC	.	.	UPI000004C4C8	SNV	ABCD4,synonymous_variant,p.%3D,ENST00000298816,;ABCD4,synonymous_variant,p.%3D,ENST00000356924,;ABCD4,synonymous_variant,p.%3D,ENST00000555904,;ABCD4,3_prime_UTR_variant,,ENST00000556517,;AC005519.4,downstream_gene_variant,,ENST00000554532,;ABCD4,downstream_gene_variant,,ENST00000557554,;ABCD4,3_prime_UTR_variant,,ENST00000553745,;ABCD4,3_prime_UTR_variant,,ENST00000474270,;ABCD4,3_prime_UTR_variant,,ENST00000553486,;ABCD4,3_prime_UTR_variant,,ENST00000481348,;ABCD4,3_prime_UTR_variant,,ENST00000481935,;ABCD4,non_coding_transcript_exon_variant,,ENST00000465085,;ABCD4,downstream_gene_variant,,ENST00000496015,;ABCD4,downstream_gene_variant,,ENST00000466822,;ABCD4,downstream_gene_variant,,ENST00000469672,;ABCD4,downstream_gene_variant,,ENST00000484380,;	1881	57	34	SUCCESS
TRPM1	4308	.	GRCh37	15	31318460	31318460	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	39	0	ENST00000397795.2:c.3445G>A	p.Asp1149Asn	p.D1149N	ENST00000397795	NM_002420.5	1149	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS58347.1	3562	MUTECT|MUSE	.	CTCGTCGCTAA	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.096)	.	tolerated(0.07)	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,missense_variant,p.Asp1149Asn,ENST00000558445,;TRPM1,missense_variant,p.Asp1188Asn,ENST00000542188,;TRPM1,missense_variant,p.Asp1073Asn,ENST00000558768,;TRPM1,missense_variant,p.Asp1171Asn,ENST00000256552,;TRPM1,missense_variant,p.Asp1149Asn,ENST00000397795,;TRPM1,missense_variant,p.Asp264Asn,ENST00000559177,;RP11-348B17.1,non_coding_transcript_exon_variant,,ENST00000558755,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,downstream_gene_variant,,ENST00000557948,;TRPM1,downstream_gene_variant,,ENST00000558212,;	3876	39	32	SUCCESS
FSIP1	161835	.	GRCh37	15	40062634	40062634	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	39	0	ENST00000350221.3:c.304T>C	p.Cys102Arg	p.C102R	ENST00000350221	NM_152597.4	102	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS10050.1	304	RADIA|MUTECT|MUSE|VARSCANS	.	TGAACACTCAG	NONE	.	.	Pfam_domain:PF15554,hmmpanther:PTHR22012,hmmpanther:PTHR22012:SF1	.	.	ENSP00000280236	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000350221	Transcript	.	.	ENSG00000150667	21674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.24)	.	FSIP1_HUMAN	FSIP1	HGNC	.	.	UPI000006F96D	SNV	FSIP1,missense_variant,p.Cys102Arg,ENST00000350221,;RP11-37C7.1,downstream_gene_variant,,ENST00000558616,;	514	39	38	SUCCESS
MGA	23269	.	GRCh37	15	42059142	42059142	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	74	1	ENST00000219905.7:c.8862C>A	p.Leu2954=	p.L2954=	ENST00000219905	NM_001164273.1	2954	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55959.1	8862	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCCCTGC	NONE	.	.	.	.	.	ENSP00000219905	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000564190,;RP11-107F6.3,downstream_gene_variant,,ENST00000562063,;RP11-107F6.3,downstream_gene_variant,,ENST00000607504,;MGA,downstream_gene_variant,,ENST00000568255,;	9043	75	84	SUCCESS
ZNF267	10308	.	GRCh37	16	31926823	31926823	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762477768	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	32	0	ENST00000300870.10:c.1253G>A	p.Arg418His	p.R418H	ENST00000300870	NM_003414.5	418	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32440.1	1253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGCTGTA	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000300870	.	4/4	.	.	.	.	.	.	.	.	rs762477768,COSM264924	4/4	PASS	ENST00000300870	Transcript	.	.	ENSG00000185947	13060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.697)	.	tolerated(0.13)	0,1	ZN267_HUMAN	ZNF267	HGNC	H3BPW2_HUMAN	.	UPI000045696F	SNV	ZNF267,missense_variant,p.Arg418His,ENST00000300870,;ZNF267,downstream_gene_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000561814,;ZNF267,downstream_gene_variant,,ENST00000566541,;	1462	32	32	SUCCESS
AXIN1	8312	.	GRCh37	16	396352	396353	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	46	0	ENST00000262320.3:c.673_674delinsC	p.Ser225ProfsTer17	p.S225Pfs*17	ENST00000262320	NM_003502.3	225	AGc/Cc	0	.	.	.	.	.	G	S/X	protein_coding	YES	CCDS10405.1	673-674	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCAGAGCTCTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	substitution	AXIN1,frameshift_variant,p.Ser225ProfsTer17,ENST00000262320,;AXIN1,frameshift_variant,p.Ser225ProfsTer17,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;	1045-1046	46	53	SUCCESS
ADCY9	115	.	GRCh37	16	4033250	4033250	+	synonymous_variant	Silent	SNP	G	G	A	rs1163256044	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	61	0	ENST00000294016.3:c.2502C>T	p.Ser834=	p.S834=	ENST00000294016	NM_001116.3	834	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32382.1	2502	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGGGACAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	.	.	ENSP00000294016	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000294016	Transcript	.	.	ENSG00000162104	240	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADCY9_HUMAN	ADCY9	HGNC	.	.	UPI000012887F	SNV	ADCY9,synonymous_variant,p.%3D,ENST00000576936,;ADCY9,synonymous_variant,p.%3D,ENST00000294016,;ADCY9,downstream_gene_variant,,ENST00000575550,;ADCY9,non_coding_transcript_exon_variant,,ENST00000574721,;	3041	61	38	SUCCESS
ACSF3	197322	.	GRCh37	16	89180877	89180877	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754435301	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	82	0	ENST00000317447.4:c.1108A>G	p.Thr370Ala	p.T370A	ENST00000317447	NM_174917.3	370	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10974.1	1108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCACTGCC	BUFFER|p.V372M|c.1114G>A|3	.	.	hmmpanther:PTHR24095:SF52,hmmpanther:PTHR24095,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000320646	.	6/11	.	.	.	.	.	.	.	.	rs754435301	6/11	PASS	ENST00000317447	Transcript	.	.	ENSG00000176715	27288	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.79)	.	ACSF3_HUMAN	ACSF3	HGNC	H3BTS0_HUMAN,F5H755_HUMAN,F5H5A1_HUMAN,F5H3B2_HUMAN,F5H362_HUMAN,F5GX20_HUMAN	.	UPI00001AF19E	SNV	ACSF3,missense_variant,p.Thr105Ala,ENST00000540697,;ACSF3,missense_variant,p.Thr105Ala,ENST00000537895,;ACSF3,missense_variant,p.Thr105Ala,ENST00000378345,;ACSF3,missense_variant,p.Thr105Ala,ENST00000544543,;ACSF3,missense_variant,p.Thr118Ala,ENST00000543676,;ACSF3,missense_variant,p.Thr370Ala,ENST00000317447,;ACSF3,missense_variant,p.Thr370Ala,ENST00000406948,;ACSF3,intron_variant,,ENST00000538340,;CTD-2555A7.3,non_coding_transcript_exon_variant,,ENST00000562782,;ACSF3,intron_variant,,ENST00000562204,;ACSF3,intron_variant,,ENST00000542688,;	1485	82	49	SUCCESS
AATK	9625	.	GRCh37	17	79094590	79094590	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	40	0	ENST00000326724.4:c.3146G>A	p.Gly1049Asp	p.G1049D	ENST00000326724	NM_001080395.2	1049	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS45807.1	3146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCTTGT	NONE	.	.	hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417	.	.	ENSP00000324196	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.13)	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,missense_variant,p.Gly1049Asp,ENST00000326724,;AATK,missense_variant,p.Gly946Asp,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000575245,;BAIAP2,downstream_gene_variant,,ENST00000392411,;BAIAP2,downstream_gene_variant,,ENST00000428708,;BAIAP2,downstream_gene_variant,,ENST00000435091,;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000321300,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,intron_variant,,ENST00000570932,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	3171	40	27	SUCCESS
ZNF208	7757	.	GRCh37	19	22156012	22156012	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	27	0	ENST00000397126.4:c.1824C>A	p.Pro608=	p.P608=	ENST00000397126	NM_007153.3	608	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54240.1	1824	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGGGTTT	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,synonymous_variant,p.%3D,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	1973	27	25	SUCCESS
RHPN2	85415	.	GRCh37	19	33493213	33493213	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1396509245	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	20	159	0	ENST00000254260.3:c.1045G>A	p.Ala349Thr	p.A349T	ENST00000254260	NM_033103.4	349	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12427.1	1045	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCCTTCA	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23031:SF5,hmmpanther:PTHR23031,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041	.	.	ENSP00000254260	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000254260	Transcript	.	.	ENSG00000131941	19974	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.091)	.	tolerated(0.21)	.	RHPN2_HUMAN	RHPN2	HGNC	B4DUS7_HUMAN,B3KX27_HUMAN	.	UPI00000747A3	SNV	RHPN2,missense_variant,p.Ala198Thr,ENST00000400226,;RHPN2,missense_variant,p.Ala349Thr,ENST00000254260,;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;	1081	159	153	SUCCESS
LILRB5	10990	.	GRCh37	19	54756260	54756260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	68	0	ENST00000449561.2:c.1545C>A	p.Ser515Arg	p.S515R	ENST00000449561		515	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS46176.1	1545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGCTGGC	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85	.	.	ENSP00000406478	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.06)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Ser415Arg,ENST00000345866,;LILRB5,missense_variant,p.Ser515Arg,ENST00000449561,;LILRB5,missense_variant,p.Ser506Arg,ENST00000450632,;LILRB5,missense_variant,p.Ser514Arg,ENST00000316219,;CTD-2337J16.1,upstream_gene_variant,,ENST00000595133,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;RPS9,downstream_gene_variant,,ENST00000448962,;	1616	68	46	SUCCESS
ZNF551	90233	.	GRCh37	19	58198623	58198623	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1449050414	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	74	0	ENST00000282296.5:c.980G>C	p.Arg327Thr	p.R327T	ENST00000282296		327	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS12959.2	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGACGTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF212,hmmpanther:PTHR24387,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282296	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282296	Transcript	.	.	ENSG00000204519	25108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.03)	.	ZN551_HUMAN	ZNF551	HGNC	M0R2M4_HUMAN	.	UPI000059D7C6	SNV	ZNF551,missense_variant,p.Arg327Thr,ENST00000282296,;ZNF551,missense_variant,p.Arg299Thr,ENST00000601064,;ZNF551,missense_variant,p.Arg311Thr,ENST00000356715,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF551,downstream_gene_variant,,ENST00000599402,;	1165	74	71	SUCCESS
MTOR	2475	.	GRCh37	1	11298100	11298100	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	47	147	0	ENST00000361445.4:c.2008G>C	p.Asp670His	p.D670H	ENST00000361445	NM_004958.3	670	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS127.1	2008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCAGGGT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354558	.	13/58	.	.	.	.	.	.	.	.	.	13/58	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	tolerated(0.08)	.	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,missense_variant,p.Asp670His,ENST00000361445,;RPL39P6,downstream_gene_variant,,ENST00000448289,;	2085	147	146	SUCCESS
KIRREL	0	.	GRCh37	1	158059547	158059547	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1299247868	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	39	170	0	ENST00000359209.6:c.1211T>C	p.Val404Ala	p.V404A	ENST00000359209		404	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1172.2	1211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTGAGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.22)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Val240Ala,ENST00000360089,;KIRREL,missense_variant,p.Val420Ala,ENST00000368173,;KIRREL,missense_variant,p.Val218Ala,ENST00000368172,;KIRREL,missense_variant,p.Val304Ala,ENST00000416935,;KIRREL,missense_variant,p.Val404Ala,ENST00000359209,;KIRREL,missense_variant,p.Val301Ala,ENST00000392272,;	1278	170	197	SUCCESS
ATP1A2	477	.	GRCh37	1	160104376	160104376	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150784486	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	60	176	1	ENST00000361216.3:c.1930C>T	p.Arg644Trp	p.R644W	ENST00000361216	NM_000702.3	644	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1196.1	1930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCGGCTC	NONE	.	.	hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00702,Superfamily_domains:SSF56784	.	.	ENSP00000354490	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,missense_variant,p.Arg644Trp,ENST00000361216,;ATP1A2,missense_variant,p.Arg644Trp,ENST00000392233,;ATP1A2,missense_variant,p.Arg355Trp,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,upstream_gene_variant,,ENST00000463989,;	2019	178	213	SUCCESS
PLEKHM2	23207	.	GRCh37	1	16060357	16060357	+	synonymous_variant	Silent	SNP	C	C	T	rs1428876693	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	45	234	0	ENST00000375799.3:c.2988C>T	p.Ser996=	p.S996=	ENST00000375799	NM_015164.2	996	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS44063.1	2988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCCTCAT	NONE	.	.	hmmpanther:PTHR22835:SF132,hmmpanther:PTHR22835	.	.	ENSP00000364956	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000375799	Transcript	.	.	ENSG00000116786	29131	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHM2_HUMAN	PLEKHM2	HGNC	.	.	UPI00001C1D9C	SNV	PLEKHM2,synonymous_variant,p.%3D,ENST00000375793,;PLEKHM2,synonymous_variant,p.%3D,ENST00000375799,;SLC25A34,upstream_gene_variant,,ENST00000294454,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,non_coding_transcript_exon_variant,,ENST00000477849,;SLC25A34,upstream_gene_variant,,ENST00000489568,;	3215	234	158	SUCCESS
CACNA1E	777	.	GRCh37	1	181767459	181767459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1350235743	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	25	0	ENST00000367573.2:c.6431C>T	p.Pro2144Leu	p.P2144L	ENST00000367573	NM_001205293.1	2144	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS55664.1	6431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCCCTCTG	NONE	.	.	.	.	.	ENSP00000356545	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.52)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Pro2033Leu,ENST00000358338,;CACNA1E,missense_variant,p.Pro1708Leu,ENST00000367567,;CACNA1E,missense_variant,p.Pro2095Leu,ENST00000357570,;CACNA1E,missense_variant,p.Pro2125Leu,ENST00000360108,;CACNA1E,missense_variant,p.Pro2082Leu,ENST00000526775,;CACNA1E,missense_variant,p.Pro2144Leu,ENST00000367573,;CACNA1E,missense_variant,p.Pro2101Leu,ENST00000367570,;	6431	25	29	SUCCESS
HMCN1	83872	.	GRCh37	1	185992215	185992215	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	24	120	0	ENST00000271588.4:c.5679T>C	p.Ala1893=	p.A1893=	ENST00000271588	NM_031935.2	1893	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS30956.1	5679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTGGCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	36/107	.	.	.	.	.	.	.	.	.	36/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	5908	120	131	SUCCESS
SERTAD4	56256	.	GRCh37	1	210412936	210412936	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	56	128	0	ENST00000367012.3:c.274A>T	p.Ser92Cys	p.S92C	ENST00000367012	NM_019605.3	92	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS1494.1	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCAGCAGC	NONE	.	.	hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3	.	.	ENSP00000355979	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated(0.17)	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,missense_variant,p.Ser92Cys,ENST00000367012,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000482421,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000483884,;	504	128	167	SUCCESS
DISP1	84976	.	GRCh37	1	223176572	223176572	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	12	131	0	ENST00000284476.6:c.1833C>A	p.Thr611=	p.T611=	ENST00000284476	NM_032890.3	611	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1536.1	1833	MUTECT|MUSE|VARSCANS	.	GTCACCAGTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866	.	.	ENSP00000284476	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000284476	Transcript	.	.	ENSG00000154309	19711	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DISP1_HUMAN	DISP1	HGNC	.	.	UPI000016069D	SNV	DISP1,synonymous_variant,p.%3D,ENST00000284476,;	1997	131	149	SUCCESS
OR2T2	401992	.	GRCh37	1	248616426	248616426	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1042	52	853	0	ENST00000342927.3:c.328G>A	p.Gly110Arg	p.G110R	ENST00000342927	NM_001004136.1	110	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31116.1	328	MUTECT|MUSE	.	TGATTGGAGGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.187)	.	deleterious(0)	.	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,missense_variant,p.Gly110Arg,ENST00000342927,;	350	853	1094	SUCCESS
PTBP2	58155	.	GRCh37	1	97250800	97250800	+	synonymous_variant	Silent	SNP	A	A	G	rs142048957	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	69	1	ENST00000426398.2:c.894A>G	p.Thr298=	p.T298=	ENST00000426398	NM_021190.2	298	acA/acG	0	T:0.0005	.	.	.	.	G	T	protein_coding	YES	CCDS754.1	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACATCCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11546:SF21,hmmpanther:PTHR11546,TIGRFAM_domain:TIGR01649	.	T:0	ENSP00000412788	.	8/14	.	.	.	.	.	.	.	.	rs142048957	8/14	PASS	ENST00000426398	Transcript	.	.	ENSG00000117569	17662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTBP2_HUMAN	PTBP2	HGNC	.	.	UPI000006F5BE	SNV	PTBP2,synonymous_variant,p.%3D,ENST00000426398,;PTBP2,synonymous_variant,p.%3D,ENST00000370198,;PTBP2,synonymous_variant,p.%3D,ENST00000394184,;PTBP2,synonymous_variant,p.%3D,ENST00000370197,;PTBP2,synonymous_variant,p.%3D,ENST00000541987,;PTBP2,synonymous_variant,p.%3D,ENST00000609116,;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,;PTBP2,non_coding_transcript_exon_variant,,ENST00000476419,;PTBP2,non_coding_transcript_exon_variant,,ENST00000476783,;PTBP2,non_coding_transcript_exon_variant,,ENST00000492905,;PTBP2,non_coding_transcript_exon_variant,,ENST00000459735,;	937	70	69	SUCCESS
CST8	10047	.	GRCh37	20	23472345	23472345	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	93	1	ENST00000246012.1:c.41T>A	p.Ile14Asn	p.I14N	ENST00000246012	NM_005492.2	14	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS13156.1	41	RADIA|MUTECT|MUSE|VARSCANS	.	CACCATTCCCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11413:SF44,hmmpanther:PTHR11413	.	.	ENSP00000246012	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000246012	Transcript	.	.	ENSG00000125815	2480	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	CST8_HUMAN	CST8	HGNC	A2A2N0_HUMAN	.	UPI00001285BB	SNV	CST8,missense_variant,p.Ile14Asn,ENST00000449810,;CST8,missense_variant,p.Ile14Asn,ENST00000246012,;	398	94	108	SUCCESS
PCK1	5105	.	GRCh37	20	56137828	56137828	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs530695277	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	25	102	0	ENST00000319441.4:c.484del	p.Asp162IlefsTer12	p.D162Ifs*12	ENST00000319441	NM_002591.3	161	acG/ac	0	.	A:0.0008	.	A:0	.	-	T/X	protein_coding	YES	CCDS13460.1	483	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGACGGATTC	NONE	by1000G	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.40.449.10,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF68923	A:0	.	ENSP00000319814	A:0	4/10	.	.	.	.	.	.	.	.	rs530695277	4/10	PASS	ENST00000319441	Transcript	1	A:0.0002	ENSG00000124253	8724	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	deletion	PCK1,frameshift_variant,p.Asp30IlefsTer12,ENST00000535860,;PCK1,frameshift_variant,p.Asp162IlefsTer12,ENST00000319441,;PCK1,intron_variant,,ENST00000543666,;PCK1,non_coding_transcript_exon_variant,,ENST00000498194,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,upstream_gene_variant,,ENST00000470051,;PCK1,upstream_gene_variant,,ENST00000485958,;	647	102	136	SUCCESS
BAGE2	85319	.	GRCh37	21	11039096	11039096	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	592	24	528	0	ENST00000470054.1:n.1108G>T		p.*370*	ENST00000470054				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TTTCTCCTTGT	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1108	528	616	SUCCESS
POTEH	23784	.	GRCh37	22	16279236	16279236	+	synonymous_variant	Silent	SNP	G	G	T	rs560275562	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1058	36	955	1	ENST00000343518.6:c.987C>A	p.Ile329=	p.I329=	ENST00000343518	NM_001136213.1	329	atC/atA	0	.	T:0	.	T:0	.	T	I	protein_coding	YES	CCDS46658.1	987	MUTECT|MUSE	.	TTCTTGATTAA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	T:0	.	ENSP00000340610	T:0	4/11	.	.	.	.	.	.	.	.	rs560275562	4/11	PASS	ENST00000343518	Transcript	.	T:0.0004	ENSG00000198062	133	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.002	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,synonymous_variant,p.%3D,ENST00000343518,;RNU6-816P,upstream_gene_variant,,ENST00000390914,;POTEH-AS1,downstream_gene_variant,,ENST00000422014,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1039	956	1094	SUCCESS
PNPLA3	80339	.	GRCh37	22	44328955	44328955	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	19	73	0	ENST00000216180.3:c.684C>T	p.Pro228=	p.P228=	ENST00000216180	NM_025225.2	228	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14054.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCCCGGA	NONE	.	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF22,Superfamily_domains:SSF52151	.	.	ENSP00000216180	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000216180	Transcript	.	.	ENSG00000100344	18590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL3_HUMAN	PNPLA3	HGNC	U3N901_HUMAN	.	UPI000006CED5	SNV	PNPLA3,synonymous_variant,p.%3D,ENST00000216180,;PNPLA3,synonymous_variant,p.%3D,ENST00000423180,;PNPLA3,non_coding_transcript_exon_variant,,ENST00000478713,;PNPLA3,non_coding_transcript_exon_variant,,ENST00000497129,;PNPLA3,3_prime_UTR_variant,,ENST00000406117,;	857	73	112	SUCCESS
MBD5	55777	.	GRCh37	2	149226010	149226010	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	9	97	0	ENST00000407073.1:c.498T>C	p.Asn166=	p.N166=	ENST00000407073	NM_018328.4	166	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS33302.1	498	MUTECT|MUSE	.	AAGAATCCTTT	NONE	.	.	hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14	.	.	ENSP00000386049	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,synonymous_variant,p.%3D,ENST00000407073,;MBD5,synonymous_variant,p.%3D,ENST00000404807,;MBD5,upstream_gene_variant,,ENST00000416015,;	1495	97	118	SUCCESS
DNAH7	56171	.	GRCh37	2	196759699	196759699	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	40	173	0	ENST00000312428.6:c.4896+1G>T		p.X1632_splice	ENST00000312428	NM_018897.2	1632		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42794.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCCTTTT	NONE	.	.	.	.	.	ENSP00000311273	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	HIGH	30/64	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,splice_donor_variant,,ENST00000312428,;DNAH7,non_coding_transcript_exon_variant,,ENST00000475293,;	.	173	183	SUCCESS
UNC80	285175	.	GRCh37	2	210680056	210680056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	47	0	ENST00000439458.1:c.1276C>A	p.Leu426Met	p.L426M	ENST00000439458	NM_032504.1	426	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS46504.1	1276	RADIA|MUTECT|MUSE|VARSCANS	.	CCAATCTGCGT	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	9/64	.	.	.	.	.	.	.	.	.	9/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.959)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Leu426Met,ENST00000439458,;UNC80,missense_variant,p.Leu426Met,ENST00000272845,;	1356	47	81	SUCCESS
ALPPL2	0	.	GRCh37	2	233272463	233272463	+	synonymous_variant	Silent	SNP	C	C	A	rs375144819	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	50	303	1	ENST00000295453.3:c.460C>A	p.Arg154=	p.R154=	ENST00000295453	NM_031313.2	154	Cgg/Agg	0	T:0.0002	T:0	.	T:0	.	A	R	protein_coding	YES	CCDS2491.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATCGGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	T:0	T:0.0001	ENSP00000295453	T:0	4/11	.	.	.	.	.	.	.	.	rs375144819	4/11	PASS	ENST00000295453	Transcript	.	T:0.0002	ENSG00000163286	441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	PPBN_HUMAN	ALPPL2	HGNC	.	.	UPI000013E259	SNV	ALPPL2,synonymous_variant,p.%3D,ENST00000295453,;	512	304	249	SUCCESS
PLB1	151056	.	GRCh37	2	28761221	28761221	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	32	0	ENST00000327757.5:c.591G>A	p.Met197Ile	p.M197I	ENST00000327757	NM_153021.4	197	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33168.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGGGGGT	NONE	.	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1	.	.	ENSP00000330442	.	10/58	.	.	.	.	.	.	.	.	.	10/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.18)	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,missense_variant,p.Met152Ile,ENST00000416713,;PLB1,missense_variant,p.Met197Ile,ENST00000327757,;PLB1,missense_variant,p.Met208Ile,ENST00000422425,;PLB1,missense_variant,p.Met207Ile,ENST00000404858,;	635	32	28	SUCCESS
ANKRD36	375248	.	GRCh37	2	97884922	97884922	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	7	78	0	ENST00000420699.2:c.3894A>G	p.Glu1298=	p.E1298=	ENST00000420699	NM_001164315.1	1298	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS54379.1	3894	MUTECT|MUSE|VARSCANS	.	ATTGAAAATAA	NONE	.	.	hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1	.	.	ENSP00000391950	.	66/76	.	.	.	.	.	.	.	.	.	66/76	PASS	ENST00000420699	Transcript	.	.	ENSG00000135976	24079	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AN36A_HUMAN	ANKRD36	HGNC	.	.	UPI0001B23BB4	SNV	ANKRD36,synonymous_variant,p.%3D,ENST00000461153,;ANKRD36,synonymous_variant,p.%3D,ENST00000420699,;ANKRD36,non_coding_transcript_exon_variant,,ENST00000421946,;	4138	78	92	SUCCESS
DZIP3	9666	.	GRCh37	3	108363329	108363329	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	13	160	0	ENST00000361582.3:c.1460G>A	p.Trp487Ter	p.W487*	ENST00000361582	NM_014648.3	487	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS2952.1	1460	MUTECT|MUSE	.	AGGATGGAATA	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,stop_gained,p.Trp487Ter,ENST00000479138,;DZIP3,stop_gained,p.Trp487Ter,ENST00000463306,;DZIP3,stop_gained,p.Trp487Ter,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	1690	160	185	SUCCESS
WDR52	0	.	GRCh37	3	113092280	113092280	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749018450	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	86	0	ENST00000295868.2:c.2422C>T	p.Pro808Ser	p.P808S	ENST00000295868	NM_018338.3	808	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS54624.1	2422	RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGATTGT	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000377428	.	18/35	.	.	.	.	.	.	.	.	rs749018450	18/35	PASS	ENST00000393845	Transcript	.	.	ENSG00000206530	25631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	WDR52_HUMAN	WDR52	HGNC	C9K0A4_HUMAN	.	UPI0000367198	SNV	WDR52,missense_variant,p.Pro808Ser,ENST00000393845,;WDR52,missense_variant,p.Pro808Ser,ENST00000295868,;WDR52,intron_variant,,ENST00000488854,;	2489	86	77	SUCCESS
DNAJB8	165721	.	GRCh37	3	128181964	128181964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142768827	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	22	210	0	ENST00000319153.3:c.125C>T	p.Ala42Val	p.A42V	ENST00000319153	NM_153330.3	42	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS3048.1	125	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGCCTCC	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242,Gene3D:1.10.287.110,Pfam_domain:PF00226,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	.	A:0.0001	ENSP00000417418	.	2/2	.	.	.	.	.	.	.	.	rs142768827	2/2	PASS	ENST00000469083	Transcript	.	.	ENSG00000179407	23699	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DNJB8_HUMAN	DNAJB8	HGNC	.	.	UPI0000129437	SNV	DNAJB8,missense_variant,p.Ala42Val,ENST00000319153,;DNAJB8,missense_variant,p.Ala42Val,ENST00000469083,;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;	2683	210	182	SUCCESS
MRPL3	11222	.	GRCh37	3	131208896	131208896	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764942168	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	34	0	ENST00000264995.3:c.497G>A	p.Arg166Gln	p.R166Q	ENST00000264995	NM_007208.3	166	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3071.1	497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCGGTAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11229,hmmpanther:PTHR11229:SF3,TIGRFAM_domain:TIGR03625,Pfam_domain:PF00297,Superfamily_domains:SSF50447	.	.	ENSP00000264995	.	5/10	.	.	.	.	.	.	.	.	rs764942168,COSM1536413	5/10	PASS	ENST00000264995	Transcript	.	.	ENSG00000114686	10379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.029)	.	tolerated(0.32)	0,1	RM03_HUMAN	MRPL3	HGNC	Q96Q75_HUMAN,D6RC14_HUMAN,D6RBQ5_HUMAN,B4DW56_HUMAN	.	UPI00001342B4	SNV	MRPL3,missense_variant,p.Arg193Gln,ENST00000425847,;MRPL3,missense_variant,p.Arg181Gln,ENST00000511168,;MRPL3,missense_variant,p.Arg133Gln,ENST00000512877,;MRPL3,missense_variant,p.Arg166Gln,ENST00000264995,;MRPL3,missense_variant,p.Arg61Gln,ENST00000507669,;MRPL3,non_coding_transcript_exon_variant,,ENST00000506946,;MRPL3,upstream_gene_variant,,ENST00000506487,;	645	34	59	SUCCESS
SLC25A38	54977	.	GRCh37	3	39433444	39433444	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	25	138	0	ENST00000273158.4:c.557T>G	p.Leu186Arg	p.L186R	ENST00000273158	NM_017875.2	186	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS2685.1	557	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTTCGAG	NONE	.	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF107,PROSITE_profiles:PS50920	.	.	ENSP00000273158	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000273158	Transcript	.	.	ENSG00000144659	26054	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	S2538_HUMAN	SLC25A38	HGNC	.	.	UPI0000070F35	SNV	SLC25A38,missense_variant,p.Leu186Arg,ENST00000273158,;SLC25A38,downstream_gene_variant,,ENST00000431510,;	934	138	162	SUCCESS
EPHA5	2044	.	GRCh37	4	66467871	66467871	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	40	0	ENST00000273854.3:c.398C>T	p.Thr133Ile	p.T133I	ENST00000273854	NM_004439.5	133	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3513.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGTAAAT	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000273854	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,missense_variant,p.Thr133Ile,ENST00000273854,;EPHA5,missense_variant,p.Thr133Ile,ENST00000511294,;EPHA5,missense_variant,p.Thr133Ile,ENST00000432638,;EPHA5,missense_variant,p.Thr133Ile,ENST00000354839,;	999	40	36	SUCCESS
ATOH1	474	.	GRCh37	4	94750441	94750441	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	111	0	ENST00000306011.3:c.364G>T	p.Val122Leu	p.V122L	ENST00000306011	NM_005172.1	122	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS3638.1	364	MUTECT|MUSE|VARSCANS	.	GGCCGGTGAAA	NONE	.	.	hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF82,Low_complexity_(Seg):seg	.	.	ENSP00000302216	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306011	Transcript	.	.	ENSG00000172238	797	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	.	tolerated(0.57)	.	ATOH1_HUMAN	ATOH1	HGNC	Q6ISE7_HUMAN	.	UPI0000126231	SNV	ATOH1,missense_variant,p.Val122Leu,ENST00000306011,;	400	111	83	SUCCESS
TRIM36	55521	.	GRCh37	5	114462308	114462308	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	113	0	ENST00000282369.3:c.2079G>A	p.Val693=	p.V693=	ENST00000282369	NM_018700.3	693	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4115.1	2079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCACTTG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF29,Pfam_domain:PF00622,Superfamily_domains:SSF49899	.	.	ENSP00000282369	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000282369	Transcript	.	.	ENSG00000152503	16280	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI36_HUMAN	TRIM36	HGNC	E9PBG3_HUMAN	.	UPI000013DCD9	SNV	TRIM36,synonymous_variant,p.%3D,ENST00000514154,;TRIM36,synonymous_variant,p.%3D,ENST00000282369,;TRIM36,synonymous_variant,p.%3D,ENST00000513154,;	2201	113	120	SUCCESS
REEP2	51308	.	GRCh37	5	137780443	137780443	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	23	108	0	ENST00000254901.5:c.304G>C	p.Glu102Gln	p.E102Q	ENST00000254901		102	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4205.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGGAGATC	NONE	.	.	hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF29	.	.	ENSP00000254901	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000254901	Transcript	1	.	ENSG00000132563	17975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	REEP2_HUMAN	REEP2	HGNC	B4DE60_HUMAN	.	UPI00001BD945	SNV	REEP2,missense_variant,p.Glu102Gln,ENST00000378339,;REEP2,missense_variant,p.Glu140Gln,ENST00000512126,;REEP2,missense_variant,p.Glu64Gln,ENST00000506158,;REEP2,missense_variant,p.Glu102Gln,ENST00000254901,;REEP2,downstream_gene_variant,,ENST00000464751,;REEP2,splice_region_variant,,ENST00000507511,;REEP2,splice_region_variant,,ENST00000507635,;REEP2,splice_region_variant,,ENST00000510467,;REEP2,upstream_gene_variant,,ENST00000504163,;REEP2,downstream_gene_variant,,ENST00000503379,;	426	108	99	SUCCESS
TRIO	7204	.	GRCh37	5	14358336	14358336	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1018676600	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	50	233	1	ENST00000344204.4:c.2096A>G	p.Tyr699Cys	p.Y699C	ENST00000344204	NM_007118.2	699	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3883.1	2096	RADIA|SOMATICSNIPER|VARSCANS	.	CGTGTATGCCG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826	.	.	ENSP00000339299	.	12/57	.	.	.	.	.	.	.	.	.	12/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.02)	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,missense_variant,p.Tyr699Cys,ENST00000537187,;TRIO,missense_variant,p.Tyr650Cys,ENST00000509967,;TRIO,missense_variant,p.Tyr699Cys,ENST00000344204,;TRIO,missense_variant,p.Tyr432Cys,ENST00000513206,;TRIO,missense_variant,p.Tyr640Cys,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;	2120	235	235	SUCCESS
GRM6	2916	.	GRCh37	5	178413890	178413890	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	92	0	ENST00000231188.5:c.1449C>A	p.Ser483Arg	p.S483R	ENST00000231188	NM_000843.3	483	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS4442.1	1449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGCTGGC	NONE	.	.	Prints_domain:PR01056,Superfamily_domains:SSF53822,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	.	.	ENSP00000231188	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000231188	Transcript	1	.	ENSG00000113262	4598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.29)	.	GRM6_HUMAN	GRM6	HGNC	.	.	UPI000013C947	SNV	GRM6,missense_variant,p.Ser483Arg,ENST00000231188,;GRM6,missense_variant,p.Ser483Arg,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,non_coding_transcript_exon_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	1628	92	85	SUCCESS
ANKRD34B	340120	.	GRCh37	5	79855469	79855469	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772456899	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	30	132	0	ENST00000338682.3:c.370T>C	p.Tyr124His	p.Y124H	ENST00000338682	NM_001004441.2	124	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS34194.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATAAACAA	NONE	byFrequency	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24156:SF1,hmmpanther:PTHR24156,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000339802	.	5/5	.	.	.	.	.	.	.	.	rs772456899	5/5	PASS	ENST00000338682	Transcript	.	.	ENSG00000189127	33736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.712)	.	tolerated(0.06)	.	AN34B_HUMAN	ANKRD34B	HGNC	.	.	UPI00003672FA	SNV	ANKRD34B,missense_variant,p.Tyr124His,ENST00000338682,;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	1043	132	120	SUCCESS
EDN1	1906	.	GRCh37	6	12294540	12294540	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	245	104	380	0	ENST00000379375.5:c.436A>G	p.Lys146Glu	p.K146E	ENST00000379375	NM_001955.4	146	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4522.1	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAAAAGAC	NONE	.	.	hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF9,Low_complexity_(Seg):seg	.	.	ENSP00000368683	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000379375	Transcript	.	.	ENSG00000078401	3176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.35)	.	EDN1_HUMAN	EDN1	HGNC	Q6FH53_HUMAN	.	UPI000012A217	SNV	EDN1,missense_variant,p.Lys146Glu,ENST00000379375,;	703	380	350	SUCCESS
DNAH8	1769	.	GRCh37	6	38891940	38891940	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	40	0	ENST00000359357.3:c.10311+2T>C		p.X3437_splice	ENST00000359357		3437		0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTAAGTT	NONE	.	.	.	.	.	ENSP00000352312	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	HIGH	71/90	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,splice_donor_variant,,ENST00000359357,;DNAH8,splice_donor_variant,,ENST00000327475,;DNAH8,splice_donor_variant,,ENST00000441566,;DNAH8,splice_donor_variant,,ENST00000449981,;RP1-207H1.3,intron_variant,,ENST00000418399,;RP1-207H1.3,intron_variant,,ENST00000416948,;RP1-207H1.2,upstream_gene_variant,,ENST00000407768,;	.	40	41	SUCCESS
LRFN2	57497	.	GRCh37	6	40360440	40360440	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	75	1	ENST00000338305.6:c.1612A>G	p.Ile538Val	p.I538V	ENST00000338305	NM_020737.1	538	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34443.1	1612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGATGACCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	.	ENSP00000345985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.38)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Ile538Val,ENST00000338305,;	2155	76	64	SUCCESS
RP11-328M4.3	0	.	GRCh37	6	41470680	41470680	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	59	288	1	ENST00000416951.1:n.308G>A		p.*103*	ENST00000416951				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGGGTCAA	NONE	.	.	.	.	.	.	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000416951	Transcript	.	.	ENSG00000226917	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-328M4.3	Clone_based_vega_gene	.	.	.	SNV	RP11-328M4.3,non_coding_transcript_exon_variant,,ENST00000416951,;RP11-328M4.2,intron_variant,,ENST00000440194,;	308	289	226	SUCCESS
DST	667	.	GRCh37	6	56391319	56391319	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	29	99	0	ENST00000244364.6:c.10100T>G	p.Leu3367Arg	p.L3367R	ENST00000244364	NM_015548.4	3367	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS47443.1	10100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTAAGGGAG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	50/84	.	.	.	.	.	.	.	.	.	50/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Leu5455Arg,ENST00000446842,;DST,missense_variant,p.Leu3584Arg,ENST00000370788,;DST,missense_variant,p.Leu3367Arg,ENST00000244364,;DST,missense_variant,p.Leu5959Arg,ENST00000370754,;DST,missense_variant,p.Leu5670Arg,ENST00000361203,;DST,missense_variant,p.Leu5781Arg,ENST00000370769,;DST,missense_variant,p.Leu3693Arg,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,non_coding_transcript_exon_variant,,ENST00000340834,;	10308	99	99	SUCCESS
MANEA	79694	.	GRCh37	6	96035165	96035165	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	14	0	ENST00000358812.4:c.544+306T>G		p.*182*	ENST00000358812	NM_024641.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTTTAAG	NONE	.	.	.	.	.	ENSP00000351669	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358812	Transcript	.	.	ENSG00000172469	21072	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANEA_HUMAN	MANEA	HGNC	.	.	UPI000020DF99	SNV	MANEA,3_prime_UTR_variant,,ENST00000369293,;MANEA,intron_variant,,ENST00000358812,;MANEA,upstream_gene_variant,,ENST00000474553,;	.	14	42	SUCCESS
POU6F2	11281	.	GRCh37	7	39379463	39379463	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150071017	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	55	0	ENST00000403058.1:c.734C>A	p.Ala245Glu	p.A245E	ENST00000403058	NM_001166018.1	245	gCg/gAg	0	T:0.0134	T:0.0076	.	T:0.0029	.	A	A/E	protein_coding	YES	CCDS34620.2	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGCGCCTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636	T:0	T:0	ENSP00000384004	T:0	6/11	.	.	.	.	.	.	.	.	rs150071017	6/11	PASS	ENST00000403058	Transcript	.	T:0.0028	ENSG00000106536	21694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0.002	tolerated_low_confidence(0.07)	.	PO6F2_HUMAN	POU6F2	HGNC	H0YL15_HUMAN	.	UPI0000480E81	SNV	POU6F2,missense_variant,p.Ala237Glu,ENST00000520104,;POU6F2,missense_variant,p.Ala245Glu,ENST00000403058,;POU6F2,missense_variant,p.Ala237Glu,ENST00000559001,;POU6F2,missense_variant,p.Ala237Glu,ENST00000524147,;POU6F2,missense_variant,p.Ala245Glu,ENST00000518318,;POU6F2,non_coding_transcript_exon_variant,,ENST00000517348,;	888	55	64	SUCCESS
PKD1L1	168507	.	GRCh37	7	47886599	47886599	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	46	174	0	ENST00000289672.2:c.5031T>G	p.Ala1677=	p.A1677=	ENST00000289672	NM_138295.3	1677	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS34633.1	5031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTAGCTAA	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	32/57	.	.	.	.	.	.	.	.	.	32/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,synonymous_variant,p.%3D,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	5082	174	159	SUCCESS
CLIP2	7461	.	GRCh37	7	73731810	73731810	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	41	0	ENST00000223398.6:c.-67G>T		p.X23_splice	ENST00000223398	NM_003388.4	23		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5569.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CGCAGGTGAGT	NONE	.	.	.	.	.	ENSP00000223398	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000223398	Transcript	.	.	ENSG00000106665	2586	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLIP2_HUMAN	CLIP2	HGNC	Q7Z5B7_HUMAN	.	UPI000007061E	SNV	CLIP2,splice_region_variant,,ENST00000361545,;CLIP2,splice_region_variant,,ENST00000223398,;CLIP2,upstream_gene_variant,,ENST00000395060,;	261	41	15	SUCCESS
GLCCI1	113263	.	GRCh37	7	8125841	8125841	+	synonymous_variant	Silent	SNP	G	G	A	rs774016200	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	24	0	ENST00000223145.5:c.1317G>A	p.Ser439=	p.S439=	ENST00000223145	NM_138426.3	439	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34601.1	1317	MUTECT|MUSE	.	ATCTCGGCCCC	NONE	byFrequency	.	hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,Pfam_domain:PF15388	.	.	ENSP00000223145	.	8/8	.	.	.	.	.	.	.	.	rs774016200,COSM1650743	8/8	PASS	ENST00000223145	Transcript	.	.	ENSG00000106415	18713	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	GLCI1_HUMAN	GLCCI1	HGNC	.	.	UPI00001907F7	SNV	GLCCI1,synonymous_variant,p.%3D,ENST00000223145,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000491947,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000482540,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000489405,;GLCCI1,intron_variant,,ENST00000438949,;	1874	24	32	SUCCESS
SVEP1	79987	.	GRCh37	9	113137703	113137703	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	23	163	0	ENST00000374469.1:c.10476G>A	p.Val3492=	p.V3492=	ENST00000374469		3492	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS48004.1	10545	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCACACA	NONE	.	.	SMART_domains:SM00179,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50026	.	.	ENSP00000384917	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,synonymous_variant,p.%3D,ENST00000401783,;SVEP1,synonymous_variant,p.%3D,ENST00000374469,;SVEP1,synonymous_variant,p.%3D,ENST00000297826,;SVEP1,downstream_gene_variant,,ENST00000476205,;	10882	163	147	SUCCESS
SUSD1	64420	.	GRCh37	9	114911630	114911630	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	125	0	ENST00000374270.3:c.267A>T	p.Thr89=	p.T89=	ENST00000374270	NM_022486.3	89	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6783.1	267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATGTGTG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24051,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000363388	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000374270	Transcript	.	.	ENSG00000106868	25413	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUSD1_HUMAN	SUSD1	HGNC	.	.	UPI0000049E0D	SNV	SUSD1,synonymous_variant,p.%3D,ENST00000374263,;SUSD1,synonymous_variant,p.%3D,ENST00000355396,;SUSD1,synonymous_variant,p.%3D,ENST00000374270,;SUSD1,synonymous_variant,p.%3D,ENST00000374264,;SUSD1,upstream_gene_variant,,ENST00000482851,;	440	125	99	SUCCESS
ALDH1B1	219	.	GRCh37	9	38396047	38396047	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754908083	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	70	0	ENST00000377698.3:c.302G>T	p.Arg101Leu	p.R101L	ENST00000377698	NM_000692.4	101	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS6615.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGGGCC	NONE	.	.	Superfamily_domains:SSF53720,Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF123	.	.	ENSP00000366927	.	2/2	.	.	.	.	.	.	.	.	rs754908083	2/2	PASS	ENST00000377698	Transcript	.	.	ENSG00000137124	407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.434)	.	deleterious(0.02)	.	AL1B1_HUMAN	ALDH1B1	HGNC	B4DLJ0_HUMAN	.	UPI0000073000	SNV	ALDH1B1,missense_variant,p.Arg101Leu,ENST00000377698,;	455	70	84	SUCCESS
TRPM3	80036	.	GRCh37	9	73426150	73426150	+	intron_variant	Intron	SNP	C	C	A	rs200079844	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	26	111	0	ENST00000377110.3:c.973+16613G>T		p.*325*	ENST00000377110				0	.	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS43835.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACGGCAG	BUFFER|p.F176F|c.528T>C|3	byFrequency|byCluster|by1000G	.	.	T:0.001	.	ENSP00000366314	T:0	.	.	.	.	.	.	.	.	.	rs200079844,COSM1109881	.	PASS	ENST00000377110	Transcript	.	T:0.0004	ENSG00000083067	17992	.	.	MODIFIER	6/24	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,synonymous_variant,p.%3D,ENST00000377106,;TRPM3,synonymous_variant,p.%3D,ENST00000358082,;TRPM3,synonymous_variant,p.%3D,ENST00000423814,;TRPM3,synonymous_variant,p.%3D,ENST00000396292,;TRPM3,synonymous_variant,p.%3D,ENST00000360823,;TRPM3,synonymous_variant,p.%3D,ENST00000396283,;TRPM3,intron_variant,,ENST00000377111,;TRPM3,intron_variant,,ENST00000396280,;TRPM3,intron_variant,,ENST00000357533,;TRPM3,intron_variant,,ENST00000377110,;TRPM3,intron_variant,,ENST00000361823,;TRPM3,intron_variant,,ENST00000377101,;TRPM3,intron_variant,,ENST00000408909,;TRPM3,intron_variant,,ENST00000377105,;TRPM3,intron_variant,,ENST00000396285,;MIR204,upstream_gene_variant,,ENST00000385200,;	.	111	129	SUCCESS
LONRF3	79836	.	GRCh37	X	118145797	118145797	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	132	0	ENST00000371628.3:c.1672A>G	p.Ile558Val	p.I558V	ENST00000371628	NM_001031855.1	558	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS35374.1	1672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTATTTTC	NONE	.	.	hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF7,Pfam_domain:PF02190,SMART_domains:SM00464,Superfamily_domains:SSF88697	.	.	ENSP00000360690	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000371628	Transcript	.	.	ENSG00000175556	21152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	LONF3_HUMAN	LONRF3	HGNC	.	.	UPI0000211E03	SNV	LONRF3,missense_variant,p.Ile517Val,ENST00000304778,;LONRF3,missense_variant,p.Ile302Val,ENST00000422289,;LONRF3,missense_variant,p.Ile324Val,ENST00000439603,;LONRF3,missense_variant,p.Ile558Val,ENST00000371628,;LONRF3,non_coding_transcript_exon_variant,,ENST00000472173,;LONRF3,missense_variant,p.Ile558Val,ENST00000481285,;	1703	132	97	SUCCESS
UBQLN2	29978	.	GRCh37	X	56590709	56590709	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	16	123	0	ENST00000338222.5:c.403C>G	p.Pro135Ala	p.P135A	ENST00000338222	NM_013444.3	135	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS14374.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACACCTATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF5	.	.	ENSP00000345195	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338222	Transcript	.	.	ENSG00000188021	12509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.17)	.	UBQL2_HUMAN	UBQLN2	HGNC	.	.	UPI000004A059	SNV	UBQLN2,missense_variant,p.Pro135Ala,ENST00000338222,;	684	123	113	SUCCESS
CUBN	8029	.	GRCh37	10	16877186	16877186	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	62	74	0	ENST00000377833.4:c.10189A>T	p.Arg3397Ter	p.R3397*	ENST00000377833	NM_001081.3	3397	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS7113.1	10189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTGTTGC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042	.	.	ENSP00000367064	.	64/67	.	.	.	.	.	.	.	.	.	64/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,stop_gained,p.Arg3397Ter,ENST00000377833,;	10255	74	228	SUCCESS
SLC39A12	221074	.	GRCh37	10	18282139	18282139	+	synonymous_variant	Silent	SNP	G	G	A	rs915410986	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	37	123	0	ENST00000377369.2:c.1452G>A	p.Val484=	p.V484=	ENST00000377369	NM_001145195.1	484	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44362.1	1452	RADIA|MUTECT|MUSE|VARSCANS	.	CACGTGGGTCA	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000366586	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,synonymous_variant,p.%3D,ENST00000377369,;SLC39A12,synonymous_variant,p.%3D,ENST00000539911,;SLC39A12,synonymous_variant,p.%3D,ENST00000377371,;SLC39A12,intron_variant,,ENST00000377374,;	1725	124	264	SUCCESS
GPR158	57512	.	GRCh37	10	25701321	25701321	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	76	106	0	ENST00000376351.3:c.1254T>G	p.Leu418=	p.L418=	ENST00000376351	NM_020752.2	418	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS31166.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTTGCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,synonymous_variant,p.%3D,ENST00000376351,;	1613	106	274	SUCCESS
AGAP4	119016	.	GRCh37	10	46322078	46322078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	43	51	0	ENST00000448048.2:c.1277G>A	p.Cys426Tyr	p.C426Y	ENST00000448048	NM_133446.2	426	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS7215.1	1277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGCATGAC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF50729,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213	.	.	ENSP00000392513	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000448048	Transcript	.	.	ENSG00000188234	23459	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	AGAP4_HUMAN	AGAP4	HGNC	.	.	UPI000013ED67	SNV	AGAP4,missense_variant,p.Cys426Tyr,ENST00000448048,;AGAP4,downstream_gene_variant,,ENST00000492347,;AGAP4,downstream_gene_variant,,ENST00000430779,;	1403	51	46	SUCCESS
P4HA1	5033	.	GRCh37	10	74803644	74803660	+	intron_variant	Intron	DEL	CCTCTTAGATACTCTGT	CCTCTTAGATACTCTGT	-	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	CCTCTTAGATACTCTGT	CCTCTTAGATACTCTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	81	0	ENST00000307116.2:c.1148+1079_1148+1095del		p.*383*	ENST00000307116				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41537.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTTACCTCTTAGATACTCTGTACTGT	NONE	.	.	.	.	.	ENSP00000411688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412021	Transcript	.	.	ENSG00000122884	8546	.	.	MODIFIER	10/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P4HA1_HUMAN	P4HA1	HGNC	.	.	UPI0000001C27	deletion	P4HA1,splice_donor_variant,,ENST00000440381,;P4HA1,splice_donor_variant,,ENST00000263556,;P4HA1,splice_donor_variant,,ENST00000373008,;P4HA1,intron_variant,,ENST00000307116,;P4HA1,intron_variant,,ENST00000394890,;P4HA1,intron_variant,,ENST00000412021,;	.	81	28	SUCCESS
PTEN	5728	.	GRCh37	10	89712017	89712017	+	splice_donor_variant	Splice_Site	SNP	G	G	T	.	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	37	0	ENST00000371953.3:c.634+1G>T		p.X212_splice	ENST00000371953	NM_000314.4	212		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31238.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TTGCAGTAAGT	BUFFER|p.0?|c.1_1212del1212|28,BUFFER|p.G165fs*9|c.493_631del139|3,BUFFER|p.?|c.634+5G>T|3	.	.	.	.	.	ENSP00000361021	.	.	.	.	.	.	.	.	.	.	CS110219,COSM17567,COSM5968	.	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	HIGH	6/8	PRIMARY	.	.	.	.	4	1,1,1	.	.	.	.	.	0,1,1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,splice_donor_variant,,ENST00000371953,;PTEN,splice_donor_variant,,ENST00000472832,;	.	37	14	SUCCESS
ATM	472	.	GRCh37	11	108114838	108114838	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771685059	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	49	0	ENST00000278616.4:c.655T>A	p.Cys219Ser	p.C219S	ENST00000278616	NM_000051.3	219	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS31669.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGTGTGCG	NONE	byFrequency	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	6/63	.	.	.	.	.	.	.	.	rs771685059	6/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Cys219Ser,ENST00000278616,;ATM,missense_variant,p.Cys219Ser,ENST00000527805,;ATM,missense_variant,p.Cys219Ser,ENST00000452508,;ATM,downstream_gene_variant,,ENST00000527891,;	1040	49	36	SUCCESS
NXPE1	120400	.	GRCh37	11	114401366	114401366	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760650209	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	132	1	ENST00000424269.1:c.364C>A	p.Leu122Met	p.L122M	ENST00000424269		122	Ctg/Atg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8372.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGTAGGA	NONE	byFrequency	.	.	.	.	ENSP00000251921	.	3/6	.	.	.	.	.	.	.	.	rs760650209	3/6	PASS	ENST00000251921	Transcript	.	.	ENSG00000095110	28527	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXPE1_HUMAN	NXPE1	HGNC	G3V1T0_HUMAN	.	UPI000013CD22	SNV	NXPE1,missense_variant,p.Leu122Met,ENST00000424269,;NXPE1,missense_variant,p.Leu122Met,ENST00000536312,;NXPE1,incomplete_terminal_codon_variant,p.%3D,ENST00000539878,;NXPE1,5_prime_UTR_variant,,ENST00000251921,;NXPE1,downstream_gene_variant,,ENST00000534921,;NXPE1,upstream_gene_variant,,ENST00000536271,;snoU13,downstream_gene_variant,,ENST00000459372,;	355	133	119	SUCCESS
KMT2A	4297	.	GRCh37	11	118347664	118347664	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs886041856	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	137	0	ENST00000534358.1:c.3301C>T	p.Arg1101Ter	p.R1101*	ENST00000534358	NM_005933.3	1101	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS55791.1	3301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAACGAGAA	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,stop_gained,p.Arg1101Ter,ENST00000389506,;KMT2A,stop_gained,p.Arg179Ter,ENST00000533790,;KMT2A,stop_gained,p.Arg1101Ter,ENST00000354520,;KMT2A,stop_gained,p.Arg1101Ter,ENST00000534358,;KMT2A,stop_gained,p.Arg1134Ter,ENST00000531904,;KMT2A,downstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000392873,;	3324	137	110	SUCCESS
CHEK1	1111	.	GRCh37	11	125514071	125514071	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	33	58	0	ENST00000428830.2:c.1009A>T	p.Lys337Ter	p.K337*	ENST00000428830	NM_001114121.2	337	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS8459.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATAAATTG	NONE	.	.	hmmpanther:PTHR24344	.	.	ENSP00000435371	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000534070	Transcript	.	.	ENSG00000149554	1925	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHK1_HUMAN	CHEK1	HGNC	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN	.	UPI000013DBA3	SNV	CHEK1,stop_gained,p.Lys337Ter,ENST00000438015,;CHEK1,stop_gained,p.Lys337Ter,ENST00000544373,;CHEK1,stop_gained,p.Lys337Ter,ENST00000278916,;CHEK1,stop_gained,p.Lys353Ter,ENST00000427383,;CHEK1,stop_gained,p.Lys337Ter,ENST00000534070,;CHEK1,stop_gained,p.Lys337Ter,ENST00000428830,;CHEK1,stop_gained,p.Lys337Ter,ENST00000524737,;CHEK1,non_coding_transcript_exon_variant,,ENST00000532449,;CHEK1,upstream_gene_variant,,ENST00000498122,;CHEK1,downstream_gene_variant,,ENST00000528761,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528276,;	1264	58	66	SUCCESS
BDNF	627	.	GRCh37	11	27721031	27721031	+	intron_variant	Intron	SNP	T	T	A	rs538220947	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	36	0	ENST00000356660.4:c.-22+680A>T		p.*8*	ENST00000356660	NM_001709.4			0	.	C:0.0008	.	C:0	.	A	.	protein_coding	YES	CCDS44558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTGGAGG	NONE	by1000G	.	.	C:0	.	ENSP00000414303	C:0	.	.	.	.	.	.	.	.	.	rs538220947	.	PASS	ENST00000438929	Transcript	.	C:0.0002	ENSG00000176697	1033	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	BDNF_HUMAN	BDNF	HGNC	S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN	.	UPI0001594492	SNV	BDNF,splice_region_variant,,ENST00000533131,;BDNF,5_prime_UTR_variant,,ENST00000395986,;BDNF,intron_variant,,ENST00000438929,;BDNF,intron_variant,,ENST00000356660,;BDNF,intron_variant,,ENST00000532997,;BDNF,intron_variant,,ENST00000395981,;BDNF,intron_variant,,ENST00000420794,;BDNF,intron_variant,,ENST00000418212,;BDNF,intron_variant,,ENST00000395983,;BDNF,intron_variant,,ENST00000395980,;BDNF,intron_variant,,ENST00000525950,;BDNF,intron_variant,,ENST00000395978,;BDNF,intron_variant,,ENST00000530861,;BDNF,intron_variant,,ENST00000314915,;BDNF,intron_variant,,ENST00000533246,;RP11-587D21.4,intron_variant,,ENST00000530663,;BDNF-AS,downstream_gene_variant,,ENST00000502161,;BDNF-AS,downstream_gene_variant,,ENST00000499568,;BDNF-AS,downstream_gene_variant,,ENST00000500662,;BDNF,intron_variant,,ENST00000584049,;BDNF,intron_variant,,ENST00000530786,;	.	36	34	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137322	40137322	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	48	0	ENST00000278198.2:c.521T>C	p.Leu174Ser	p.L174S	ENST00000278198		174	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS31464.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCAAAGAA	NONE	.	.	hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13306,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Leu174Ser,ENST00000528697,;LRRC4C,missense_variant,p.Leu174Ser,ENST00000278198,;LRRC4C,missense_variant,p.Leu174Ser,ENST00000530763,;LRRC4C,missense_variant,p.Leu174Ser,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2485	48	71	SUCCESS
ANO9	338440	.	GRCh37	11	428381	428381	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	116	1	ENST00000332826.6:c.1199T>A	p.Val400Glu	p.V400E	ENST00000332826	NM_001012302.2	400	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS31326.1	1199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACGCAC	NONE	.	.	hmmpanther:PTHR12308:SF27,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000332788	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000332826	Transcript	.	.	ENSG00000185101	20679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ANO9_HUMAN	ANO9	HGNC	.	.	UPI00001D782B	SNV	ANO9,missense_variant,p.Val400Glu,ENST00000332826,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;ANO9,downstream_gene_variant,,ENST00000525857,;	1284	117	94	SUCCESS
OR51D1	390038	.	GRCh37	11	4661967	4661967	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	63	0	ENST00000357605.2:c.947T>A	p.Leu316His	p.L316H	ENST00000357605	NM_001004751.2	316	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS31357.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTCTGTA	NONE	.	.	hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350222	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357605	Transcript	.	.	ENSG00000197428	15193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	deleterious(0.03)	.	O51D1_HUMAN	OR51D1	HGNC	.	.	UPI000004B21E	SNV	OR51D1,missense_variant,p.Leu316His,ENST00000357605,;OR51E1,upstream_gene_variant,,ENST00000396952,;	1023	63	95	SUCCESS
OR8K5	219453	.	GRCh37	11	55926911	55926911	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs376114385,rs772325896	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	71	0	ENST00000313447.1:c.883G>T	p.Glu295Ter	p.E295*	ENST00000313447	NM_001004058.2	295	Gaa/Taa	0	T:0.0002	.	.	.	.	A	E/*	protein_coding	YES	CCDS31521.1	883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCGTTTC	NONE	byCluster	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60	.	T:0	ENSP00000323853	.	1/1	.	.	.	.	.	.	.	.	rs376114385,rs772325896,COSM3449246	1/1	PASS	ENST00000313447	Transcript	.	.	ENSG00000181752	15315	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,1	.	.	.	.	.	0,0,1	OR8K5_HUMAN	OR8K5	HGNC	.	.	UPI000004B231	SNV	OR8K5,stop_gained,p.Glu295Ter,ENST00000313447,;	883	71	36	SUCCESS
OR4D9	390199	.	GRCh37	11	59283045	59283045	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	90	0	ENST00000329328.3:c.660C>A	p.Val220=	p.V220=	ENST00000329328	NM_001004711.1	220	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31564.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTCATCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF272,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000328563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329328	Transcript	.	.	ENSG00000172742	15178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4D9_HUMAN	OR4D9	HGNC	.	.	UPI0000061EE8	SNV	OR4D9,synonymous_variant,p.%3D,ENST00000329328,;	660	90	71	SUCCESS
SNX15	29907	.	GRCh37	11	64794979	64794979	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs534624602	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	84	0	ENST00000377244.3:c.-31C>T		p.*11*	ENST00000377244	NM_013306.4			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS8089.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCGGCG	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000366452	T:0	1/8	.	.	.	.	.	.	.	.	rs534624602	1/8	PASS	ENST00000377244	Transcript	.	T:0.0002	ENSG00000110025	14978	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	SNX15_HUMAN	SNX15	HGNC	E5KQS5_HUMAN	.	UPI0000135B4B	SNV	SNX15,5_prime_UTR_variant,,ENST00000377244,;SNX15,5_prime_UTR_variant,,ENST00000534637,;SNX15,5_prime_UTR_variant,,ENST00000524831,;SNX15,upstream_gene_variant,,ENST00000525648,;SNX15,upstream_gene_variant,,ENST00000352068,;SNX15,5_prime_UTR_variant,,ENST00000529673,;RP11-399J13.3,3_prime_UTR_variant,,ENST00000301886,;SNX15,upstream_gene_variant,,ENST00000526702,;AP000436.4,upstream_gene_variant,,ENST00000605239,;	100	84	50	SUCCESS
IL18BP	10068	.	GRCh37	11	71712350	71712350	+	synonymous_variant	Silent	SNP	A	A	G	rs761365336	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	100	0	ENST00000260049.5:c.339A>G	p.Arg113=	p.R113=	ENST00000260049	NM_001145057.1	113	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS8206.2	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGACTGTG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR14292,Superfamily_domains:SSF48726	.	.	ENSP00000384212	.	3/5	.	.	.	.	.	.	.	.	rs761365336	3/5	PASS	ENST00000404792	Transcript	.	.	ENSG00000137496	5987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I18BP_HUMAN	IL18BP	HGNC	Q9UNH2_HUMAN	.	UPI000000DA78	SNV	IL18BP,synonymous_variant,p.%3D,ENST00000393705,;IL18BP,synonymous_variant,p.%3D,ENST00000497194,;IL18BP,synonymous_variant,p.%3D,ENST00000404792,;IL18BP,synonymous_variant,p.%3D,ENST00000260049,;IL18BP,synonymous_variant,p.%3D,ENST00000531053,;IL18BP,synonymous_variant,p.%3D,ENST00000393703,;IL18BP,synonymous_variant,p.%3D,ENST00000337131,;IL18BP,intron_variant,,ENST00000393707,;RNF121,downstream_gene_variant,,ENST00000361756,;NUMA1,downstream_gene_variant,,ENST00000393695,;RNF121,downstream_gene_variant,,ENST00000530137,;NUMA1,downstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000351960,;RNF121,downstream_gene_variant,,ENST00000533380,;NUMA1,downstream_gene_variant,,ENST00000358965,;RNF121,downstream_gene_variant,,ENST00000545854,;RNF121,downstream_gene_variant,,ENST00000393713,;IL18BP,downstream_gene_variant,,ENST00000531777,;NUMA1,downstream_gene_variant,,ENST00000541262,;IL18BP,downstream_gene_variant,,ENST00000414358,;IL18BP,downstream_gene_variant,,ENST00000525932,;IL18BP,synonymous_variant,p.%3D,ENST00000534583,;IL18BP,synonymous_variant,p.%3D,ENST00000343898,;RNF121,downstream_gene_variant,,ENST00000525243,;NUMA1,downstream_gene_variant,,ENST00000545721,;RNF121,downstream_gene_variant,,ENST00000526549,;NUMA1,downstream_gene_variant,,ENST00000540626,;RNF121,downstream_gene_variant,,ENST00000532379,;	1261	100	76	SUCCESS
FOLR3	2352	.	GRCh37	11	71847147	71847147	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	66	330	0	ENST00000456237.1:c.149A>C	p.Glu50Ala	p.E50A	ENST00000456237		50	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	.	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGAGGACG	NONE	.	.	hmmpanther:PTHR10517,hmmpanther:PTHR10517:SF17	.	.	ENSP00000399235	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000456237	Transcript	.	.	ENSG00000110203	3795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0)	.	.	FOLR3	HGNC	J3KQ90_HUMAN,E9PGT2_HUMAN	.	UPI0001AE6C07	SNV	FOLR3,missense_variant,p.Glu48Ala,ENST00000445078,;FOLR3,missense_variant,p.Glu50Ala,ENST00000456237,;FOLR3,missense_variant,p.Glu48Ala,ENST00000546166,;FOLR3,missense_variant,p.Glu50Ala,ENST00000442948,;FOLR3,missense_variant,p.Glu48Ala,ENST00000542161,;FOLR3,missense_variant,p.Glu48Ala,ENST00000325101,;FOLR3,upstream_gene_variant,,ENST00000545379,;RPEP6,downstream_gene_variant,,ENST00000546228,;	199	330	191	SUCCESS
FOLR3	2352	.	GRCh37	11	71850783	71850783	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	159	0	ENST00000456237.1:c.772T>A	p.Ser258Thr	p.S258T	ENST00000456237		258	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	.	772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACTCAGCC	NONE	.	.	hmmpanther:PTHR10517,hmmpanther:PTHR10517:SF17	.	.	ENSP00000399235	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000456237	Transcript	.	.	ENSG00000110203	3795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	deleterious(0.03)	.	.	FOLR3	HGNC	J3KQ90_HUMAN,E9PGT2_HUMAN	.	UPI0001AE6C07	SNV	FOLR3,missense_variant,p.Ser256Thr,ENST00000445078,;FOLR3,missense_variant,p.Ser258Thr,ENST00000456237,;FOLR3,missense_variant,p.Ser215Thr,ENST00000442948,;FOLR3,downstream_gene_variant,,ENST00000546166,;FOLR3,3_prime_UTR_variant,,ENST00000325101,;FOLR3,downstream_gene_variant,,ENST00000545379,;FOLR3,downstream_gene_variant,,ENST00000542161,;	822	159	120	SUCCESS
EIF3F	8665	.	GRCh37	11	8017529	8017529	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	52	0	ENST00000309828.4:c.1034A>T	p.Gln345Leu	p.Q345L	ENST00000309828	NM_003754.2	345	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS7785.1	1034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACAGTCAC	NONE	.	.	Pfam_domain:PF13012,hmmpanther:PTHR10540,HAMAP:MF_03005	.	.	ENSP00000431800	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000533626	Transcript	.	.	ENSG00000175390	3275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0)	.	EIF3F_HUMAN	EIF3F	HGNC	B4DEW9_HUMAN	.	UPI000012D301	SNV	EIF3F,missense_variant,p.Gln345Leu,ENST00000309828,;EIF3F,missense_variant,p.Gln196Leu,ENST00000449102,;EIF3F,missense_variant,p.Gln360Leu,ENST00000537635,;EIF3F,missense_variant,p.Gln345Leu,ENST00000533626,;EIF3F,downstream_gene_variant,,ENST00000531572,;EIF3F,3_prime_UTR_variant,,ENST00000531329,;EIF3F,non_coding_transcript_exon_variant,,ENST00000528763,;EIF3F,non_coding_transcript_exon_variant,,ENST00000530219,;EIF3F,downstream_gene_variant,,ENST00000528653,;EIF3F,downstream_gene_variant,,ENST00000532882,;	1660	52	55	SUCCESS
IPO7	10527	.	GRCh37	11	9462080	9462080	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs771906219	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	47	130	0	ENST00000379719.3:c.2775del	p.Asp926MetfsTer55	p.D926Mfs*55	ENST00000379719	NM_006391.2	925	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS31425.1	2774	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGTGAAGATG	NONE	byFrequency	.	Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27,Low_complexity_(Seg):seg	.	.	ENSP00000369042	.	23/25	.	.	.	.	.	.	.	.	rs771906219	23/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	deletion	IPO7,frameshift_variant,p.Asp926MetfsTer55,ENST00000379719,;	2916	130	191	SUCCESS
GLT8D2	83468	.	GRCh37	12	104396987	104396987	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	85	104	1	ENST00000360814.4:c.210T>A	p.Asn70Lys	p.N70K	ENST00000360814	NM_031302.3	70	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS9096.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTATTGAT	NONE	.	.	hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448	.	.	ENSP00000354053	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000360814	Transcript	.	.	ENSG00000120820	24890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	deleterious(0.02)	.	GL8D2_HUMAN	GLT8D2	HGNC	F8VZP2_HUMAN	.	UPI000004B633	SNV	GLT8D2,missense_variant,p.Asn9Lys,ENST00000546851,;GLT8D2,missense_variant,p.Asn70Lys,ENST00000360814,;GLT8D2,missense_variant,p.Asn70Lys,ENST00000548660,;GLT8D2,missense_variant,p.Asn70Lys,ENST00000546436,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000550816,;	616	105	141	SUCCESS
KLRC4	8302	.	GRCh37	12	10561527	10561527	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	163	311	0	ENST00000309384.1:c.270A>T	p.Thr90=	p.T90=	ENST00000309384	NM_013431.2	90	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8624.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATTGTTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF148,Superfamily_domains:SSF56436	.	.	ENSP00000310216	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000309384	Transcript	.	.	ENSG00000183542	6377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2F_HUMAN	KLRC4	HGNC	H3BU71_HUMAN,H3BRK7_HUMAN	.	UPI000013EE96	SNV	KLRC4,synonymous_variant,p.%3D,ENST00000309384,;NKG2-E,downstream_gene_variant,,ENST00000539033,;KLRC3,downstream_gene_variant,,ENST00000381904,;KLRC3,downstream_gene_variant,,ENST00000396439,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000591546,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000586581,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000590131,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000543812,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000585507,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000539300,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000588263,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000588447,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000591937,;KLRC4-KLRK1,synonymous_variant,p.%3D,ENST00000590323,;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,;KLRC4-KLRK1,upstream_gene_variant,,ENST00000543572,;KLRC4-KLRK1,upstream_gene_variant,,ENST00000585711,;	452	311	288	SUCCESS
HECTD4	283450	.	GRCh37	12	112685903	112685903	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs374617773	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	58	0	ENST00000550722.1:c.3778A>T	p.Met1260Leu	p.M1260L	ENST00000550722	NM_001109662.3	1260	Atg/Ttg	0	C:0.0003	.	.	.	.	A	M/L	protein_coding	YES	.	3778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATGTTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	C:0	ENSP00000449784	.	27/76	.	.	.	.	.	.	.	.	rs374617773	27/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Met984Leu,ENST00000430131,;HECTD4,missense_variant,p.Met1260Leu,ENST00000550722,;HECTD4,missense_variant,p.Met1234Leu,ENST00000377560,;HECTD4,downstream_gene_variant,,ENST00000311694,;	4174	58	71	SUCCESS
CCDC42B	0	.	GRCh37	12	113587689	113587689	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	42	57	0	ENST00000335621.6:c.27C>T	p.Phe9=	p.F9=	ENST00000335621	NM_001144872.1	9	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS44983.1	27	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCCGACT	NONE	.	.	hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF1	.	.	ENSP00000333915	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000335621	Transcript	.	.	ENSG00000186710	37100	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC42B_HUMAN	CCDC42B	HGNC	.	.	UPI000192950B	SNV	CCDC42B,synonymous_variant,p.%3D,ENST00000335621,;CCDC42B,upstream_gene_variant,,ENST00000550918,;CCDC42B,upstream_gene_variant,,ENST00000551256,;	27	57	74	SUCCESS
NOS1	4842	.	GRCh37	12	117669901	117669901	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs755981500	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	179	0	ENST00000317775.6:c.3271C>G	p.Pro1091Ala	p.P1091A	ENST00000317775	NM_000620.4	1091	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS55890.1	3373	RADIA|MUTECT|MUSE	.	GGGCGGGAGGC	CODON|p.P1091P|c.3273G>A|3	.	.	Superfamily_domains:SSF63380,PIRSF_domain:PIRSF000333,Gene3D:1.20.990.10,Pfam_domain:PF00667,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,PROSITE_profiles:PS51384	.	.	ENSP00000337459	.	22/29	.	.	.	.	.	.	.	.	rs755981500,COSM3456666	22/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Pro1091Ala,ENST00000317775,;NOS1,missense_variant,p.Pro1125Ala,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	3378	179	144	SUCCESS
ZCCHC8	55596	.	GRCh37	12	122967908	122967908	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	88	0	ENST00000336229.4:c.606-17A>T		p.*202*	ENST00000336229	NM_017612.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TTTATTAAGGA	NONE	.	.	.	.	.	ENSP00000337313	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336229	Transcript	.	.	ENSG00000033030	25265	.	.	MODIFIER	6/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZCHC8_HUMAN	ZCCHC8	HGNC	F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN	.	UPI00001E0582	SNV	ZCCHC8,5_prime_UTR_variant,,ENST00000540586,;ZCCHC8,5_prime_UTR_variant,,ENST00000543897,;ZCCHC8,5_prime_UTR_variant,,ENST00000544054,;ZCCHC8,intron_variant,,ENST00000536306,;ZCCHC8,intron_variant,,ENST00000336229,;ZCCHC8,intron_variant,,ENST00000536663,;ZCCHC8,upstream_gene_variant,,ENST00000538116,;ZCCHC8,upstream_gene_variant,,ENST00000542892,;ZCCHC8,non_coding_transcript_exon_variant,,ENST00000538493,;ZCCHC8,upstream_gene_variant,,ENST00000546149,;	.	88	74	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50190491	50190491	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	39	0	ENST00000335999.6:c.1152T>C	p.Gly384=	p.G384=	ENST00000335999	NM_001037806.3	384	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41781.2	1152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTACCCCC	NONE	.	.	hmmpanther:PTHR21740	.	.	ENSP00000337998	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,synonymous_variant,p.%3D,ENST00000335999,;NCKAP5L,synonymous_variant,p.%3D,ENST00000433948,;	1354	39	33	SUCCESS
SP7	121340	.	GRCh37	12	53723037	53723037	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	62	0	ENST00000303846.3:c.189T>A	p.Ala63=	p.A63=	ENST00000303846	NM_152860.1	63	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44897.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATAAGCATC	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF12	.	.	ENSP00000443827	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000536324	Transcript	.	.	ENSG00000170374	17321	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP7_HUMAN	SP7	HGNC	F8VV67_HUMAN	.	UPI000000D7AE	SNV	SP7,synonymous_variant,p.%3D,ENST00000537210,;SP7,synonymous_variant,p.%3D,ENST00000547755,;SP7,synonymous_variant,p.%3D,ENST00000536324,;SP7,synonymous_variant,p.%3D,ENST00000303846,;AAAS,upstream_gene_variant,,ENST00000550286,;AAAS,upstream_gene_variant,,ENST00000548258,;AAAS,upstream_gene_variant,,ENST00000551724,;	473	62	60	SUCCESS
CALCOCO1	57658	.	GRCh37	12	54118967	54118967	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	133	207	0	ENST00000550804.1:c.60A>T	p.Val20=	p.V20=	ENST00000550804		20	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8864.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCTACATT	NONE	.	.	hmmpanther:PTHR31915,Pfam_domain:PF07888,hmmpanther:PTHR31915:SF5	.	.	ENSP00000449960	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000550804	Transcript	.	.	ENSG00000012822	29306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CACO1_HUMAN	CALCOCO1	HGNC	F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN	.	UPI0000037D7A	SNV	CALCOCO1,synonymous_variant,p.%3D,ENST00000549784,;CALCOCO1,synonymous_variant,p.%3D,ENST00000550804,;CALCOCO1,synonymous_variant,p.%3D,ENST00000546619,;CALCOCO1,synonymous_variant,p.%3D,ENST00000552623,;CALCOCO1,synonymous_variant,p.%3D,ENST00000430117,;CALCOCO1,synonymous_variant,p.%3D,ENST00000262059,;CALCOCO1,synonymous_variant,p.%3D,ENST00000549173,;CALCOCO1,synonymous_variant,p.%3D,ENST00000549688,;CALCOCO1,synonymous_variant,p.%3D,ENST00000548263,;CALCOCO1,synonymous_variant,p.%3D,ENST00000548177,;CALCOCO1,synonymous_variant,p.%3D,ENST00000551900,;CALCOCO1,synonymous_variant,p.%3D,ENST00000549349,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547885,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547949,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000553154,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000548431,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547988,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000546774,;	121	207	223	SUCCESS
METTL1	4234	.	GRCh37	12	58163625	58163625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	71	145	0	ENST00000324871.7:c.389G>T	p.Gly130Val	p.G130V	ENST00000324871	NM_005371.5	130	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS8955.3	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCCACCT	NONE	.	.	HAMAP:MF_03055,PROSITE_profiles:PS51625,hmmpanther:PTHR23417,hmmpanther:PTHR23417:SF16,Pfam_domain:PF02390,TIGRFAM_domain:TIGR00091,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000314441	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000324871	Transcript	.	.	ENSG00000037897	7030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.12)	.	TRMB_HUMAN	METTL1	HGNC	F8VSD9_HUMAN	.	UPI0000072720	SNV	METTL1,missense_variant,p.Gly9Val,ENST00000548504,;METTL1,missense_variant,p.Gly130Val,ENST00000324871,;METTL1,intron_variant,,ENST00000257848,;METTL21B,upstream_gene_variant,,ENST00000551420,;METTL21B,upstream_gene_variant,,ENST00000300209,;METTL21B,upstream_gene_variant,,ENST00000548256,;RP11-571M6.15,upstream_gene_variant,,ENST00000546504,;METTL1,upstream_gene_variant,,ENST00000547653,;CYP27B1,upstream_gene_variant,,ENST00000546609,;CYP27B1,upstream_gene_variant,,ENST00000228606,;METTL21B,upstream_gene_variant,,ENST00000333012,;CYP27B1,upstream_gene_variant,,ENST00000546567,;AC025165.1,downstream_gene_variant,,ENST00000582738,;METTL1,downstream_gene_variant,,ENST00000548681,;CYP27B1,upstream_gene_variant,,ENST00000546496,;RP11-571M6.15,upstream_gene_variant,,ENST00000553083,;METTL21B,upstream_gene_variant,,ENST00000552307,;METTL1,missense_variant,p.Trp73Cys,ENST00000551117,;METTL1,3_prime_UTR_variant,,ENST00000553125,;RP11-571M6.15,upstream_gene_variant,,ENST00000471530,;CYP27B1,upstream_gene_variant,,ENST00000547344,;CYP27B1,upstream_gene_variant,,ENST00000552186,;METTL1,downstream_gene_variant,,ENST00000549773,;CYP27B1,upstream_gene_variant,,ENST00000547451,;	1099	145	122	SUCCESS
LRIG3	121227	.	GRCh37	12	59313286	59313286	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	81	0	ENST00000320743.3:c.236+495A>T		p.*79*	ENST00000320743	NM_153377.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8960.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTGTTGA	NONE	.	.	.	.	.	ENSP00000326759	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320743	Transcript	.	.	ENSG00000139263	30991	.	.	MODIFIER	1/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIG3_HUMAN	LRIG3	HGNC	F8VYZ5_HUMAN	.	UPI0000035BB5	SNV	LRIG3,5_prime_UTR_variant,,ENST00000379141,;LRIG3,intron_variant,,ENST00000320743,;LRIG3,upstream_gene_variant,,ENST00000552267,;RP11-150C16.1,upstream_gene_variant,,ENST00000547590,;LRIG3,intron_variant,,ENST00000433272,;LRIG3,intron_variant,,ENST00000548968,;	.	81	85	SUCCESS
LGR5	8549	.	GRCh37	12	71960645	71960645	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	83	114	0	ENST00000266674.5:c.1023A>T	p.Ser341=	p.S341=	ENST00000266674	NM_001277226.1	341	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9000.1	1023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCATCTCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF259,hmmpanther:PTHR24367,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000266674	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000266674	Transcript	.	.	ENSG00000139292	4504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR5_HUMAN	LGR5	HGNC	.	.	UPI000004B65C	SNV	LGR5,synonymous_variant,p.%3D,ENST00000536515,;LGR5,synonymous_variant,p.%3D,ENST00000266674,;LGR5,synonymous_variant,p.%3D,ENST00000540815,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;LGR5,upstream_gene_variant,,ENST00000547310,;LGR5,upstream_gene_variant,,ENST00000549015,;	1334	114	161	SUCCESS
TMTC3	160418	.	GRCh37	12	88548085	88548085	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	36	0	ENST00000266712.6:c.429A>T	p.Arg143Ser	p.R143S	ENST00000266712	NM_181783.3	143	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS9032.1	429	RADIA|SOMATICSNIPER|VARSCANS	.	GGAAGAGCAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF384	.	.	ENSP00000266712	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000266712	Transcript	.	.	ENSG00000139324	26899	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMTC3_HUMAN	TMTC3	HGNC	F8W044_HUMAN	.	UPI000004D255	SNV	TMTC3,missense_variant,p.Arg143Ser,ENST00000549011,;TMTC3,missense_variant,p.Arg70Ser,ENST00000551088,;TMTC3,missense_variant,p.Arg143Ser,ENST00000266712,;TMTC3,missense_variant,p.Arg143Ser,ENST00000547034,;	649	36	22	SUCCESS
PZP	5858	.	GRCh37	12	9346836	9346836	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	46	86	1	ENST00000261336.2:c.1093-2A>T		p.X365_splice	ENST00000261336	NM_002864.2	365		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8600.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCACCTAAAGA	NONE	.	.	.	.	.	ENSP00000261336	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261336	Transcript	.	.	ENSG00000126838	9750	.	.	HIGH	10/35	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PZP_HUMAN	PZP	HGNC	.	.	UPI000013D168	SNV	PZP,splice_acceptor_variant,,ENST00000261336,;PZP,splice_acceptor_variant,,ENST00000381997,;PZP,splice_acceptor_variant,,ENST00000535230,;	.	88	73	SUCCESS
USP44	84101	.	GRCh37	12	95927304	95927304	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	58	0	ENST00000258499.3:c.729T>A	p.Asp243Glu	p.D243E	ENST00000258499	NM_032147.3	243	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS9053.1	729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTATCTTT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF401	.	.	ENSP00000258499	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000258499	Transcript	.	.	ENSG00000136014	20064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.92)	.	UBP44_HUMAN	USP44	HGNC	F8VVD6_HUMAN,F8VRW0_HUMAN	.	UPI000013CFDB	SNV	USP44,missense_variant,p.Asp243Glu,ENST00000537435,;USP44,missense_variant,p.Asp243Glu,ENST00000393091,;USP44,missense_variant,p.Asp243Glu,ENST00000258499,;USP44,missense_variant,p.Asp243Glu,ENST00000552440,;USP44,downstream_gene_variant,,ENST00000551837,;USP44,downstream_gene_variant,,ENST00000549639,;USP44,upstream_gene_variant,,ENST00000552237,;	1018	58	72	SUCCESS
PAN3	255967	.	GRCh37	13	28748529	28748529	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	17	31	0	ENST00000380958.3:c.551A>T	p.Gln184Leu	p.Q184L	ENST00000380958	NM_175854.7	184	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS9329.2	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCAGGTAT	NONE	.	.	hmmpanther:PTHR12272	.	.	ENSP00000370345	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000380958	Transcript	.	.	ENSG00000152520	29991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	PAN3_HUMAN	PAN3	HGNC	Q6ZMN5_HUMAN	.	UPI0001BE8112	SNV	PAN3,missense_variant,p.Gln38Leu,ENST00000399613,;PAN3,missense_variant,p.Gln184Leu,ENST00000380958,;PAN3,splice_region_variant,,ENST00000503791,;	703	31	26	SUCCESS
N4BP2L2	10443	.	GRCh37	13	33092036	33092036	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777130135	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	38	62	0	ENST00000267068.3:c.1655A>G	p.His552Arg	p.H552R	ENST00000267068	NM_014887.2	552	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS45024.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTGTGAT	NONE	.	.	hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF19,Gene3D:3.40.50.300	.	.	ENSP00000382328	.	6/10	.	.	.	.	.	.	.	.	rs777130135	6/10	PASS	ENST00000399396	Transcript	.	.	ENSG00000244754	26916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious(0.01)	.	N42L2_HUMAN	N4BP2L2	HGNC	Q6ZV26_HUMAN,B4DPY1_HUMAN	.	UPI00015C73C2	SNV	N4BP2L2,missense_variant,p.His552Arg,ENST00000446957,;N4BP2L2,missense_variant,p.His552Arg,ENST00000267068,;N4BP2L2,missense_variant,p.His108Arg,ENST00000504114,;N4BP2L2,missense_variant,p.His108Arg,ENST00000357505,;N4BP2L2,missense_variant,p.His123Arg,ENST00000399396,;N4BP2L2,missense_variant,p.His552Arg,ENST00000505213,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000475731,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000511143,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000473025,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000509076,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000503814,;	390	62	70	SUCCESS
NBEA	26960	.	GRCh37	13	35923307	35923307	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	113	0	ENST00000400445.3:c.5966T>A	p.Leu1989Ter	p.L1989*	ENST00000400445	NM_015678.4	1989	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS45026.1	5966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTGAACA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Pfam_domain:PF06469	.	.	ENSP00000383295	.	37/58	.	.	.	.	.	.	.	.	.	37/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,stop_gained,p.Leu1989Ter,ENST00000400445,;NBEA,stop_gained,p.Leu1989Ter,ENST00000540320,;NBEA,stop_gained,p.Leu1989Ter,ENST00000310336,;NBEA,stop_gained,p.Leu1986Ter,ENST00000379939,;	6500	113	92	SUCCESS
ABCC4	10257	.	GRCh37	13	95822825	95822825	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	43	0	ENST00000376887.4:c.1785G>C	p.Gln595His	p.Q595H	ENST00000376887	NM_005845.3	595	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS9474.1	1785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTACTGCAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50893	.	.	ENSP00000366084	.	14/31	.	.	.	.	.	.	.	.	.	14/31	PASS	ENST00000376887	Transcript	.	.	ENSG00000125257	55	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	deleterious(0.01)	.	MRP4_HUMAN	ABCC4	HGNC	Q8IUA3_HUMAN	.	UPI00001A36E6	SNV	ABCC4,missense_variant,p.Gln595His,ENST00000431522,;ABCC4,missense_variant,p.Gln595His,ENST00000376887,;ABCC4,missense_variant,p.Gln595His,ENST00000412704,;ABCC4,missense_variant,p.Gln520His,ENST00000536256,;ABCC4,3_prime_UTR_variant,,ENST00000538287,;	1900	43	40	SUCCESS
IGHV3-23	28442	.	GRCh37	14	106725352	106725352	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs369605949	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	272	46	284	0	ENST00000390609.2:c.200T>A	p.Val67Asp	p.V67D	ENST00000390609		67	gTc/gAc	0	G:0.0002	.	.	.	.	T	V/D	IG_V_gene	YES	.	200	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGACCCAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	G:0	ENSP00000375018	.	2/2	.	.	.	.	.	.	.	.	rs369605949	2/2	PASS	ENST00000390609	Transcript	.	.	ENSG00000211949	5588	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	deleterious_low_confidence(0)	.	.	IGHV3-23	HGNC	.	.	UPI0000113BD6	SNV	IGHV3-23,missense_variant,p.Val67Asp,ENST00000390609,;IGHVIII-22-2,upstream_gene_variant,,ENST00000518246,;	279	284	318	SUCCESS
OR11H4	390442	.	GRCh37	14	20711071	20711071	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	50	138	1	ENST00000315409.2:c.121T>C	p.Phe41Leu	p.F41L	ENST00000315409	NM_001004479.1	41	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS32034.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTTTTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF99,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000318997	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315409	Transcript	.	.	ENSG00000176198	15347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	O11H4_HUMAN	OR11H4	HGNC	.	.	UPI0000041C42	SNV	OR11H4,missense_variant,p.Phe41Leu,ENST00000315409,;	174	139	161	SUCCESS
FSCB	84075	.	GRCh37	14	44975744	44975744	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	95	136	0	ENST00000340446.4:c.447A>G	p.Glu149=	p.E149=	ENST00000340446	NM_032135.3	149	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS9679.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTTTCTAC	NONE	.	.	.	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,synonymous_variant,p.%3D,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	739	136	152	SUCCESS
PLEKHG3	26030	.	GRCh37	14	65209799	65209799	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	88	0	ENST00000394691.1:c.3038A>T	p.Gln1013Leu	p.Q1013L	ENST00000394691		1013	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS32098.1	2870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAGCGTT	NONE	.	.	hmmpanther:PTHR22143:SF4,hmmpanther:PTHR22143	.	.	ENSP00000247226	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000247226	Transcript	.	.	ENSG00000126822	20364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.17)	.	PKHG3_HUMAN	PLEKHG3	HGNC	G3V311_HUMAN	.	UPI0000407D62	SNV	PLEKHG3,missense_variant,p.Gln957Leu,ENST00000247226,;PLEKHG3,missense_variant,p.Gln546Leu,ENST00000471182,;PLEKHG3,missense_variant,p.Gln518Leu,ENST00000484731,;PLEKHG3,missense_variant,p.Gln1013Leu,ENST00000394691,;SPTB,downstream_gene_variant,,ENST00000389722,;PLEKHG3,intron_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	3178	88	66	SUCCESS
PLEKHD1	400224	.	GRCh37	14	69994595	69994595	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1001764324	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	29	139	0	ENST00000322564.7:c.1297C>T	p.Arg433Cys	p.R433C	ENST00000322564	NM_001161498.1	433	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS53903.1	1297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCGCATC	NONE	.	.	hmmpanther:PTHR14383	.	.	ENSP00000317175	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000322564	Transcript	.	.	ENSG00000175985	20148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0)	.	PLHD1_HUMAN	PLEKHD1	HGNC	.	.	UPI0000EE334F	SNV	PLEKHD1,missense_variant,p.Arg433Cys,ENST00000322564,;	1509	139	133	SUCCESS
EIF2B2	8892	.	GRCh37	14	75469779	75469779	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	62	181	1	ENST00000266126.5:c.86G>C	p.Arg29Pro	p.R29P	ENST00000266126	NM_014239.3	29	cGc/cCc	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS9836.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGCAGCT	NONE	.	.	hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF9,Pfam_domain:PF01008,Superfamily_domains:SSF100950	.	.	ENSP00000266126	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000266126	Transcript	.	.	ENSG00000119718	3258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.35)	.	EI2BB_HUMAN	EIF2B2	HGNC	Q53XC2_HUMAN	.	UPI0000000CB9	SNV	EIF2B2,missense_variant,p.Arg29Pro,ENST00000266126,;EIF2B2,upstream_gene_variant,,ENST00000554748,;RP11-950C14.3,downstream_gene_variant,,ENST00000554430,;EIF2B2,missense_variant,p.Arg20Pro,ENST00000553401,;EIF2B2,missense_variant,p.Arg29Pro,ENST00000556028,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000553539,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000555522,;EIF2B2,upstream_gene_variant,,ENST00000556668,;	166	182	201	SUCCESS
CEP128	145508	.	GRCh37	14	80997175	80997175	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	36	63	0	ENST00000281129.3:c.2936T>G	p.Leu979Arg	p.L979R	ENST00000281129	NM_152446.3	979	cTa/cGa	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS32130.1	2936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTAGTAGG	NONE	.	.	hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	.	.	ENSP00000451162	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000555265	Transcript	.	.	ENSG00000100629	20359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CE128_HUMAN	CEP128	HGNC	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN	.	UPI000022982E	SNV	CEP128,missense_variant,p.Leu979Arg,ENST00000555265,;CEP128,missense_variant,p.Leu45Arg,ENST00000556061,;CEP128,missense_variant,p.Leu979Arg,ENST00000281129,;CEP128,non_coding_transcript_exon_variant,,ENST00000553717,;CEP128,missense_variant,p.Leu671Arg,ENST00000554502,;CEP128,non_coding_transcript_exon_variant,,ENST00000557377,;	3312	63	63	SUCCESS
CCDC88C	440193	.	GRCh37	14	91787522	91787522	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs778090862	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	103	0	ENST00000389857.6:c.1469A>T	p.Glu490Val	p.E490V	ENST00000389857	NM_001080414.3	490	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS45151.1	1469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTCCAAC	NONE	byFrequency	.	hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31,Pfam_domain:PF05622	.	.	ENSP00000374507	.	13/30	.	.	.	.	.	.	.	.	rs778090862	13/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,missense_variant,p.Glu490Val,ENST00000389857,;	1556	103	83	SUCCESS
LRRK1	79705	.	GRCh37	15	101606245	101606246	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	51	53	85	0	ENST00000388948.3:c.5606_5607del	p.Val1869AlafsTer23	p.V1869Afs*23	ENST00000388948	NM_024652.3	1868	aGT/a	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS42086.1	5603-5604	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCCAGTGTGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000373600	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	deletion	LRRK1,frameshift_variant,p.Val1869AlafsTer23,ENST00000388948,;LRRK1,frameshift_variant,p.Val1866AlafsTer23,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,frameshift_variant,p.Val546AlafsTer23,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;	5962-5963	85	104	SUCCESS
NPAP1	23742	.	GRCh37	15	24920825	24920825	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	12	14	0	ENST00000329468.2:c.-190C>T		p.*64*	ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|MUTECT|MUSE	.	GGCGTCGCCCT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,5_prime_UTR_variant,,ENST00000329468,;	285	14	14	SUCCESS
FMN1	342184	.	GRCh37	15	33194233	33194233	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs199507823	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	25	31	1	ENST00000559047.1:c.3386A>T	p.His1129Leu	p.H1129L	ENST00000559047	NM_001277313.1	1129	cAt/cTt	0	C:0	.	.	.	.	A	H/L	protein_coding	YES	CCDS45209.1	2717	SOMATICSNIPER|VARSCANS	.	ACTCATGTAAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51444,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	C:0.0002	ENSP00000333950	.	9/17	.	.	.	.	.	.	.	.	rs199507823	9/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.503)	.	tolerated(0.1)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.His4Leu,ENST00000558711,;FMN1,missense_variant,p.His1129Leu,ENST00000559047,;FMN1,missense_variant,p.His1031Leu,ENST00000561249,;FMN1,missense_variant,p.His83Leu,ENST00000560317,;FMN1,missense_variant,p.His906Leu,ENST00000334528,;	2717	32	30	SUCCESS
SLC24A5	283652	.	GRCh37	15	48427084	48427084	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	45	57	0	ENST00000341459.3:c.493T>A	p.Ser165Thr	p.S165T	ENST00000341459	NM_205850.2	165	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS10128.1	493	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGTCTCAACA	NONE	.	.	Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367,hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846	.	.	ENSP00000341550	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000341459	Transcript	1	.	ENSG00000188467	20611	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.118)	.	tolerated(0.38)	.	NCKX5_HUMAN	SLC24A5	HGNC	.	.	UPI0000242BC9	SNV	SLC24A5,missense_variant,p.Ser165Thr,ENST00000341459,;SLC24A5,missense_variant,p.Ser105Thr,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000324324,;SLC24A5,non_coding_transcript_exon_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000558289,;	566	57	55	SUCCESS
UNC13C	440279	.	GRCh37	15	54306838	54306838	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	26	41	0	ENST00000260323.11:c.1738T>A	p.Ser580Thr	p.S580T	ENST00000260323	NM_001080534.1	580	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS45264.1	1738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTCATCT	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.Ser580Thr,ENST00000537900,;UNC13C,missense_variant,p.Ser580Thr,ENST00000545554,;UNC13C,missense_variant,p.Ser580Thr,ENST00000260323,;	1738	41	32	SUCCESS
RSL24D1	51187	.	GRCh37	15	55489153	55489153	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	78	0	ENST00000260443.4:c.-65G>T		p.*22*	ENST00000260443	NM_016304.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10152.1	.	MUTECT|MUSE|VARSCANS	.	CCCGTCACCGG	NONE	.	.	.	.	.	ENSP00000260443	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000260443	Transcript	.	.	ENSG00000137876	18479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RLP24_HUMAN	RSL24D1	HGNC	.	.	UPI0000073C55	SNV	RSL24D1,5_prime_UTR_variant,,ENST00000260443,;RSL24D1,upstream_gene_variant,,ENST00000569386,;RSL24D1,intron_variant,,ENST00000564344,;RSL24D1,upstream_gene_variant,,ENST00000565854,;RSL24D1,upstream_gene_variant,,ENST00000562895,;RSL24D1,upstream_gene_variant,,ENST00000562993,;	113	78	61	SUCCESS
GRIN2A	2903	.	GRCh37	16	10032379	10032379	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	25	0	ENST00000330684.3:c.444A>T	p.Gly148=	p.G148=	ENST00000330684	NM_001134407.1	148	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10539.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTCCAAA	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000379818	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,synonymous_variant,p.%3D,ENST00000396573,;GRIN2A,synonymous_variant,p.%3D,ENST00000404927,;GRIN2A,synonymous_variant,p.%3D,ENST00000330684,;GRIN2A,synonymous_variant,p.%3D,ENST00000396575,;GRIN2A,synonymous_variant,p.%3D,ENST00000562109,;GRIN2A,5_prime_UTR_variant,,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566670,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000568247,;GRIN2A,intron_variant,,ENST00000566683,;	754	25	25	SUCCESS
CLCN7	1186	.	GRCh37	16	1511413	1511413	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	62	0	ENST00000382745.4:c.344A>T	p.Asn115Ile	p.N115I	ENST00000382745	NM_001287.5	115	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS32361.1	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGATTGATC	NONE	.	.	hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689,Gene3D:1otsB00,Superfamily_domains:SSF81340	.	.	ENSP00000372193	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000382745	Transcript	.	.	ENSG00000103249	2025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.15)	.	CLCN7_HUMAN	CLCN7	HGNC	Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN	.	UPI000004904C	SNV	CLCN7,missense_variant,p.Asn80Ile,ENST00000564568,;CLCN7,missense_variant,p.Asn91Ile,ENST00000448525,;CLCN7,missense_variant,p.Asn91Ile,ENST00000262318,;CLCN7,missense_variant,p.Asn57Ile,ENST00000569851,;CLCN7,missense_variant,p.Asn115Ile,ENST00000382745,;CLCN7,non_coding_transcript_exon_variant,,ENST00000561665,;CLCN7,non_coding_transcript_exon_variant,,ENST00000567139,;CLCN7,upstream_gene_variant,,ENST00000563822,;CLCN7,upstream_gene_variant,,ENST00000564968,;	950	62	55	SUCCESS
ERN2	10595	.	GRCh37	16	23711862	23711862	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	31	55	0	ENST00000256797.4:c.1667A>T	p.Glu556Val	p.E556V	ENST00000256797	NM_033266.3	556	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS32407.1	1667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTCAGGG	NONE	.	.	hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Gene3D:3.30.200.20	.	.	ENSP00000256797	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	tolerated(0.05)	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Glu456Val,ENST00000457008,;ERN2,missense_variant,p.Glu556Val,ENST00000256797,;ERN2,splice_region_variant,,ENST00000562562,;	1836	55	55	SUCCESS
ZNF629	23361	.	GRCh37	16	30793273	30793273	+	synonymous_variant	Silent	SNP	C	C	T	rs747498426	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	27	0	ENST00000262525.4:c.2376G>A	p.Gln792=	p.Q792=	ENST00000262525	NM_001080417.1	792	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS45463.1	2376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCTGGGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000262525	.	3/3	.	.	.	.	.	.	.	.	rs747498426	3/3	PASS	ENST00000262525	Transcript	.	.	ENSG00000102870	29008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN629_HUMAN	ZNF629	HGNC	.	.	UPI00001C1FA5	SNV	ZNF629,synonymous_variant,p.%3D,ENST00000262525,;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	2584	27	20	SUCCESS
SIAH1	6477	.	GRCh37	16	48395767	48395767	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	57	121	1	ENST00000380006.2:c.573A>T	p.Leu191Phe	p.L191F	ENST00000380006		191	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS32444.1	666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACTAACAT	NONE	.	.	Superfamily_domains:SSF49599,Pfam_domain:PF03145,Gene3D:2.60.210.10,hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23	.	.	ENSP00000349156	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000356721	Transcript	.	.	ENSG00000196470	10857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SIAH1_HUMAN	SIAH1	HGNC	H3BU09_HUMAN	.	UPI0000074729	SNV	SIAH1,missense_variant,p.Leu191Phe,ENST00000380006,;SIAH1,missense_variant,p.Leu191Phe,ENST00000394725,;LONP2,missense_variant,p.Leu235Gln,ENST00000565867,;SIAH1,missense_variant,p.Leu222Phe,ENST00000356721,;LONP2,downstream_gene_variant,,ENST00000285737,;SIAH1,downstream_gene_variant,,ENST00000563745,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,downstream_gene_variant,,ENST00000573005,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,missense_variant,p.Leu191Phe,ENST00000568007,;LONP2,splice_region_variant,,ENST00000565185,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;	1090	123	70	SUCCESS
BRD7	29117	.	GRCh37	16	50368683	50368683	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	35	57	1	ENST00000394688.3:c.826A>T	p.Arg276Ter	p.R276*	ENST00000394688		276	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS54007.1	826	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTCTCTC	BUFFER|p.E277fs*18|c.830_831delAG|4	.	.	hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,stop_gained,p.Arg276Ter,ENST00000394688,;BRD7,stop_gained,p.Arg276Ter,ENST00000394689,;BRD7,non_coding_transcript_exon_variant,,ENST00000475877,;	831	59	39	SUCCESS
FAM195A	0	.	GRCh37	16	697866	697866	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	85	2	ENST00000307650.4:c.394C>A	p.Pro132Thr	p.P132T	ENST00000307650	NM_138418.2	132	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS10415.1	394	SOMATICSNIPER|VARSCANS	.	GGACCCCCAAT	NONE	.	.	hmmpanther:PTHR19890,Pfam_domain:PF14799	.	.	ENSP00000305138	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307650	Transcript	.	.	ENSG00000172366	14142	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	F195A_HUMAN	FAM195A	HGNC	.	.	UPI0000073123	SNV	FAM195A,missense_variant,p.Pro132Thr,ENST00000307650,;WDR90,upstream_gene_variant,,ENST00000293879,;WDR90,upstream_gene_variant,,ENST00000549091,;AL022341.3,downstream_gene_variant,,ENST00000455294,;FAM195A,3_prime_UTR_variant,,ENST00000491999,;FAM195A,3_prime_UTR_variant,,ENST00000474840,;FAM195A,non_coding_transcript_exon_variant,,ENST00000575894,;WDR90,upstream_gene_variant,,ENST00000552943,;WDR90,upstream_gene_variant,,ENST00000549648,;WDR90,upstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000420061,;	573	87	66	SUCCESS
HYDIN	54768	.	GRCh37	16	71007743	71007743	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778015369	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	16	128	0	ENST00000393567.2:c.5218C>T	p.Pro1740Ser	p.P1740S	ENST00000393567	NM_001270974.1	1740	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS59269.1	5218	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGGCTTTT	NONE	byFrequency	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	34/86	.	.	.	.	.	.	.	.	rs778015369	34/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.556)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Pro1740Ser,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;	5369	128	153	SUCCESS
MSLN	10232	.	GRCh37	16	813260	813260	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200684663	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	44	208	0	ENST00000382862.3:c.113C>T	p.Ala38Val	p.A38V	ENST00000382862	NM_013404.4	38	gCt/gTt	0	T:0.0005	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS32356.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCTGGAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23412:SF6,hmmpanther:PTHR23412,Pfam_domain:PF06060	T:0	T:0.0008	ENSP00000372313	T:0.001	3/17	.	.	.	.	.	.	.	.	rs200684663	3/17	PASS	ENST00000382862	Transcript	.	T:0.0002	ENSG00000102854	7371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	T:0	tolerated(0.31)	.	MSLN_HUMAN	MSLN	HGNC	H3BV92_HUMAN	.	UPI000004EC9C	SNV	MSLN,missense_variant,p.Ala38Val,ENST00000563651,;MSLN,missense_variant,p.Ala38Val,ENST00000382862,;MSLN,missense_variant,p.Ala38Val,ENST00000566549,;MSLN,missense_variant,p.Ala38Val,ENST00000563941,;MSLN,missense_variant,p.Ala38Val,ENST00000569566,;MSLN,missense_variant,p.Ala38Val,ENST00000545450,;MSLN,upstream_gene_variant,,ENST00000561896,;MSLN,upstream_gene_variant,,ENST00000566269,;	208	208	149	SUCCESS
MSLNL	401827	.	GRCh37	16	819494	819494	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	148	0	ENST00000442466.1:c.2043A>T	p.Ser681=	p.S681=	ENST00000442466		681	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	.	3096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTGACCC	NONE	.	.	.	.	.	ENSP00000293892	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000293892	Transcript	.	.	ENSG00000162006	14170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSLNL_HUMAN	MSLNL	HGNC	.	.	UPI0000072242	SNV	MSLNL,synonymous_variant,p.%3D,ENST00000442466,;MSLNL,synonymous_variant,p.%3D,ENST00000543963,;MSLNL,synonymous_variant,p.%3D,ENST00000293892,;MSLN,downstream_gene_variant,,ENST00000382862,;MSLN,downstream_gene_variant,,ENST00000566269,;MSLN,downstream_gene_variant,,ENST00000569566,;MSLN,downstream_gene_variant,,ENST00000563651,;MSLN,downstream_gene_variant,,ENST00000561896,;MSLN,downstream_gene_variant,,ENST00000566549,;MSLN,downstream_gene_variant,,ENST00000563941,;MSLN,downstream_gene_variant,,ENST00000545450,;MIR662,upstream_gene_variant,,ENST00000384847,;MSLNL,downstream_gene_variant,,ENST00000537221,;	3096	148	96	SUCCESS
ZNF286A	57335	.	GRCh37	17	15619693	15619693	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	37	65	0	ENST00000413242.2:c.655A>T	p.Thr219Ser	p.T219S	ENST00000413242		219	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS11172.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATACACTT	NONE	.	.	hmmpanther:PTHR24377:SF217,hmmpanther:PTHR24377,Superfamily_domains:SSF57667	.	.	ENSP00000464218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000464847	Transcript	.	.	ENSG00000187607	13501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.6)	.	.	ZNF286A	Uniprot_gn	K7EQ88_HUMAN,A1A525_HUMAN	.	UPI000013C347	SNV	ZNF286A,missense_variant,p.Thr209Ser,ENST00000593105,;ZNF286A,missense_variant,p.Thr219Ser,ENST00000421016,;ZNF286A,missense_variant,p.Thr107Ser,ENST00000579694,;ZNF286A,missense_variant,p.Thr219Ser,ENST00000464847,;ZNF286A,missense_variant,p.Thr219Ser,ENST00000583566,;ZNF286A,3_prime_UTR_variant,,ENST00000395894,;ZNF286A,3_prime_UTR_variant,,ENST00000581529,;ZNF286A,3_prime_UTR_variant,,ENST00000472486,;ZNF286A,downstream_gene_variant,,ENST00000580393,;ZNF286A,downstream_gene_variant,,ENST00000580259,;ZNF286A,downstream_gene_variant,,ENST00000583031,;ZNF286A,downstream_gene_variant,,ENST00000585194,;ZNF286A,intron_variant,,ENST00000583675,;ZNF286A,intron_variant,,ENST00000585171,;ZNF286A,downstream_gene_variant,,ENST00000578258,;ZNF286A,downstream_gene_variant,,ENST00000580136,;ZNF286A,upstream_gene_variant,,ENST00000578920,;ZNF286A,missense_variant,p.Thr209Ser,ENST00000412988,;ZNF286A,missense_variant,p.Thr219Ser,ENST00000413242,;	1208	65	69	SUCCESS
LRRC48	0	.	GRCh37	17	17910349	17910349	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	36	157	1	ENST00000313838.8:c.1214G>C	p.Cys405Ser	p.C405S	ENST00000313838	NM_001130090.1	405	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS45622.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGCCGGG	NONE	.	.	hmmpanther:PTHR10588:SF32,hmmpanther:PTHR10588	.	.	ENSP00000326870	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000313838	Transcript	.	.	ENSG00000171962	25384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	deleterious(0)	.	LRC48_HUMAN	LRRC48	HGNC	J3QS14_HUMAN,J3QRH8_HUMAN,J3QRC9_HUMAN,J3KRB8_HUMAN	.	UPI000018CE87	SNV	LRRC48,missense_variant,p.Cys405Ser,ENST00000313838,;LRRC48,missense_variant,p.Cys405Ser,ENST00000584166,;LRRC48,missense_variant,p.Cys5Ser,ENST00000579376,;LRRC48,missense_variant,p.Cys405Ser,ENST00000399187,;LRRC48,missense_variant,p.Cys405Ser,ENST00000411504,;LRRC48,missense_variant,p.Cys405Ser,ENST00000399182,;LRRC48,3_prime_UTR_variant,,ENST00000583171,;LRRC48,non_coding_transcript_exon_variant,,ENST00000490517,;LRRC48,non_coding_transcript_exon_variant,,ENST00000470048,;ATPAF2,intron_variant,,ENST00000584205,;LRRC48,downstream_gene_variant,,ENST00000496293,;AC087163.2,upstream_gene_variant,,ENST00000457299,;	1593	158	168	SUCCESS
AL353997.3	0	.	GRCh37	17	18327860	18327860	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	126	0	ENST00000444070.1:n.2157T>A		p.*719*	ENST00000444070				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|VARSCANS	.	TGGGCTGGCTG	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000444070	Transcript	.	.	ENSG00000205266	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AL353997.3	Clone_based_vega_gene	.	.	.	SNV	AL353997.3,non_coding_transcript_exon_variant,,ENST00000445433,;AL353997.3,non_coding_transcript_exon_variant,,ENST00000444070,;AL353997.3,non_coding_transcript_exon_variant,,ENST00000583394,;KRT17P2,upstream_gene_variant,,ENST00000584769,;AL353997.3,downstream_gene_variant,,ENST00000579679,;AL353997.3,downstream_gene_variant,,ENST00000581247,;KRT17P2,upstream_gene_variant,,ENST00000326333,;AL353997.3,downstream_gene_variant,,ENST00000584833,;AL353997.4,intron_variant,,ENST00000332088,;KRT17P2,upstream_gene_variant,,ENST00000300992,;	2157	126	95	SUCCESS
LGALS9B	284194	.	GRCh37	17	20358665	20358665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	262	94	535	0	ENST00000423676.3:c.491T>A	p.Phe164Tyr	p.F164Y	ENST00000423676		164	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS42283.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGAACGGC	NONE	.	.	hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346	.	.	ENSP00000315564	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000324290	Transcript	.	.	ENSG00000170298	24842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.19)	.	LEG9B_HUMAN	LGALS9B	HGNC	.	.	UPI00001AF401	SNV	LGALS9B,missense_variant,p.Phe164Tyr,ENST00000423676,;LGALS9B,missense_variant,p.Phe164Tyr,ENST00000324290,;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,upstream_gene_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000584703,;LGALS9B,upstream_gene_variant,,ENST00000581490,;	556	536	356	SUCCESS
AC015818.3	0	.	GRCh37	17	20423176	20423176	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	62	0	ENST00000582261.1:n.1941T>A		p.*647*	ENST00000582261				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CAGCCAGCCCA	NONE	.	.	.	.	.	.	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000582261	Transcript	.	.	ENSG00000205215	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC015818.3	Clone_based_vega_gene	.	.	.	SNV	AC015818.3,non_coding_transcript_exon_variant,,ENST00000582261,;AC025627.9,upstream_gene_variant,,ENST00000581013,;AC015818.3,downstream_gene_variant,,ENST00000585017,;AC015818.3,downstream_gene_variant,,ENST00000583364,;AC015818.3,non_coding_transcript_exon_variant,,ENST00000451704,;AC025627.9,upstream_gene_variant,,ENST00000453795,;	1941	62	57	SUCCESS
RHBDL3	162494	.	GRCh37	17	30616020	30616020	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	98	219	0	ENST00000269051.4:c.504A>T	p.Thr168=	p.T168=	ENST00000269051	NM_138328.2	168	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32613.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACAGTCAC	NONE	.	.	hmmpanther:PTHR22936:SF14,hmmpanther:PTHR22936,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	.	.	ENSP00000269051	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000269051	Transcript	.	.	ENSG00000141314	16502	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHBL3_HUMAN	RHBDL3	HGNC	Q495Y4_HUMAN	.	UPI0000133858	SNV	RHBDL3,synonymous_variant,p.%3D,ENST00000536287,;RHBDL3,synonymous_variant,p.%3D,ENST00000538145,;RHBDL3,synonymous_variant,p.%3D,ENST00000269051,;RHBDL3,synonymous_variant,p.%3D,ENST00000431505,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;RHBDL3,non_coding_transcript_exon_variant,,ENST00000582967,;	518	219	168	SUCCESS
MRPL45	84311	.	GRCh37	17	36478426	36478426	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	75	0	ENST00000312513.5:c.869A>T	p.Glu290Val	p.E290V	ENST00000312513	NM_001278279.1	290	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS11326.1	869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGAAGAAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000308901	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000312513	Transcript	.	.	ENSG00000174100	16651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.43)	.	RM45_HUMAN	MRPL45	HGNC	.	.	UPI000013FDDF	SNV	MRPL45,missense_variant,p.Glu290Val,ENST00000312513,;GPR179,downstream_gene_variant,,ENST00000342292,;MRPL45,downstream_gene_variant,,ENST00000582535,;GPR179,downstream_gene_variant,,ENST00000584976,;MRPL45,3_prime_UTR_variant,,ENST00000579911,;MRPL45,downstream_gene_variant,,ENST00000580762,;	1030	75	45	SUCCESS
CCR7	1236	.	GRCh37	17	38711550	38711550	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	71	110	1	ENST00000246657.2:c.581T>A	p.Leu194His	p.L194H	ENST00000246657	NM_001838.3	194	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11369.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGAGCTCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF29,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00641	.	.	ENSP00000246657	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000246657	Transcript	.	.	ENSG00000126353	1608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0)	.	CCR7_HUMAN	CCR7	HGNC	J3KTN5_HUMAN,J3KSS9_HUMAN,A0N0Q0_HUMAN	.	UPI0000001C2F	SNV	CCR7,missense_variant,p.Leu194His,ENST00000246657,;CCR7,missense_variant,p.Leu131His,ENST00000578085,;CCR7,missense_variant,p.Leu188His,ENST00000579344,;	644	111	129	SUCCESS
SAMD14	201191	.	GRCh37	17	48191392	48191392	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	38	160	0	ENST00000330175.4:c.994G>A	p.Gly332Ser	p.G332S	ENST00000330175	NM_001257359.1	332	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS11560.1	1078	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCACCT	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR16154,Gene3D:1.10.150.50,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000424474	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000503131	Transcript	.	.	ENSG00000167100	27312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.99)	.	SAM14_HUMAN	SAMD14	HGNC	.	.	UPI0000074135	SNV	SAMD14,missense_variant,p.Gly360Ser,ENST00000503131,;SAMD14,missense_variant,p.Gly344Ser,ENST00000285206,;SAMD14,missense_variant,p.Gly332Ser,ENST00000330175,;PDK2,downstream_gene_variant,,ENST00000503176,;PDK2,downstream_gene_variant,,ENST00000007708,;SAMD14,downstream_gene_variant,,ENST00000503734,;SAMD14,non_coding_transcript_exon_variant,,ENST00000508892,;SAMD14,non_coding_transcript_exon_variant,,ENST00000573376,;SAMD14,downstream_gene_variant,,ENST00000515816,;PDK2,downstream_gene_variant,,ENST00000506647,;SAMD14,downstream_gene_variant,,ENST00000507043,;PDK2,downstream_gene_variant,,ENST00000512204,;	1456	161	132	SUCCESS
SLC52A1	55065	.	GRCh37	17	4936947	4936947	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	66	100	0	ENST00000254853.5:c.837T>A	p.Gly279=	p.G279=	ENST00000254853	NM_017986.3	279	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS11066.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCACCATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF5,hmmpanther:PTHR12929,Pfam_domain:PF06237	.	.	ENSP00000399979	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000424747	Transcript	.	.	ENSG00000132517	30225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S52A1_HUMAN	SLC52A1	HGNC	.	.	UPI000013CE68	SNV	SLC52A1,synonymous_variant,p.%3D,ENST00000512825,;SLC52A1,synonymous_variant,p.%3D,ENST00000424747,;SLC52A1,synonymous_variant,p.%3D,ENST00000254853,;SLC52A1,non_coding_transcript_exon_variant,,ENST00000575919,;SLC52A1,non_coding_transcript_exon_variant,,ENST00000573674,;	1550	100	78	SUCCESS
RP11-112H10.4	0	.	GRCh37	17	56621179	56621179	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	93	139	0	ENST00000580769.1:n.511A>T		p.*171*	ENST00000580769		123		0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32691.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTAACTTT	NONE	.	.	Pfam_domain:PF15548	.	.	ENSP00000354874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000321691	Transcript	.	.	ENSG00000181013	26844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ047_HUMAN	C17orf47	HGNC	.	.	UPI0000140BFA	SNV	C17orf47,synonymous_variant,p.%3D,ENST00000321691,;SEPT4,upstream_gene_variant,,ENST00000457347,;SEPT4,upstream_gene_variant,,ENST00000412945,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580769,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,intron_variant,,ENST00000578022,;SEPT4,upstream_gene_variant,,ENST00000581921,;	551	139	152	SUCCESS
KIF19	124602	.	GRCh37	17	72351437	72351437	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	50	0	ENST00000389916.4:c.2983T>C	p.Ser995Pro	p.S995P	ENST00000389916	NM_153209.3	995	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS32718.2	2983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTCCCGG	NONE	.	.	.	.	.	ENSP00000374566	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.22)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ser995Pro,ENST00000389916,;AC103809.2,upstream_gene_variant,,ENST00000599136,;BTBD17,downstream_gene_variant,,ENST00000375366,;KIF19,downstream_gene_variant,,ENST00000551294,;KIF19,downstream_gene_variant,,ENST00000549637,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000547389,;	3121	50	49	SUCCESS
GALK1	2584	.	GRCh37	17	73760089	73760089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	65	0	ENST00000225614.2:c.244G>T	p.Ala82Ser	p.A82S	ENST00000225614		82	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11728.1	244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGCACCCT	NONE	.	.	hmmpanther:PTHR10457:SF6,hmmpanther:PTHR10457,TIGRFAM_domain:TIGR00131,Gene3D:3.30.230.10,PIRSF_domain:PIRSF000530,Superfamily_domains:SSF54211	.	.	ENSP00000465930	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000588479	Transcript	.	.	ENSG00000108479	4118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.14)	.	GALK1_HUMAN	GALK1	HGNC	Q71UH7_HUMAN,C8CHJ6_HUMAN	.	UPI000012B056	SNV	GALK1,missense_variant,p.Ala112Ser,ENST00000437911,;GALK1,missense_variant,p.Ala82Ser,ENST00000588479,;GALK1,missense_variant,p.Ala82Ser,ENST00000225614,;GALK1,upstream_gene_variant,,ENST00000592997,;GALK1,missense_variant,p.Ala82Ser,ENST00000586244,;GALK1,non_coding_transcript_exon_variant,,ENST00000589030,;GALK1,non_coding_transcript_exon_variant,,ENST00000592494,;GALK1,upstream_gene_variant,,ENST00000587707,;	819	65	51	SUCCESS
TP53	7157	.	GRCh37	17	7578461	7578461	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121912654	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	57	177	1	ENST00000269305.4:c.469G>T	p.Val157Phe	p.V157F	ENST00000269305	NM_001126112.2	157	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS11118.1	469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	GCGGACGCGGG	SITE|p.V157F|c.469G>T|7,SITE|p.V157F|c.469G>T|8,SITE|p.V157F|c.469G>T|22,SITE|p.V157F|c.469G>T|162,SITE|p.V157F|c.469G>T|22,SITE|p.V25F|c.73G>T|25,SITE|p.V64F|c.190G>T|22,CODON|p.0?|c.1_1182del1182|6,CODON|p.R158C|c.471_472CC>TT|6,CODON|p.V157V|c.471C>A|3,CODON|p.V157G|c.470T>G|9,CODON|p.V157D|c.470T>A|8,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.R158fs*11|c.472_475delCGCG|3,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157L|c.469G>C|6,BUFFER|p.V157I|c.469G>A|10,BUFFER|p.V157fs*13|c.468delC|3,BUFFER|p.R156P|c.467G>C|26,BUFFER|p.R63P|c.188G>C|4,BUFFER|p.R156H|c.467G>A|11,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R24P|c.71G>C|4,BUFFER|p.R156L|c.467G>T|3,BUFFER|p.P152fs*14|c.454_466del13|5,BUFFER|p.R156fs*14|c.466delC|9,BUFFER|p.R156S|c.466C>A|3,BUFFER|p.R156G|c.466C>G|3,BUFFER|p.R156C|c.466C>T|4,BUFFER|p.T155T|c.465C>T|4,BUFFER|p.T155N|c.464C>A|4,BUFFER|p.T155N|c.464C>A|5,BUFFER|p.T62N|c.185C>A|6,BUFFER|p.T155N|c.464C>A|25,BUFFER|p.T155I|c.464C>T|15,BUFFER|p.T23N|c.68C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G61V|c.182G>T|3,BUFFER|p.G22V|c.65G>T|4,BUFFER|p.G154D|c.461G>A|6,BUFFER|p.G154V|c.461G>T|38,BUFFER|p.T150fs*16|c.448_460del13|4,BUFFER|p.G154S|c.460G>A|9,BUFFER|p.P153P|c.459C>T|6,BUFFER|p.P153L|c.458C>T|6	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs121912654,TP53_g.12457del,TP53_g.12457G>A,TP53_g.12457G>C,TP53_g.12457G>T,COSM10670,COSM43625,COSM45120,COSM131480,COSM131481,COSM131483,COSM3388217,COSM1679513,COSM131482	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Val157Phe,ENST00000508793,;TP53,missense_variant,p.Val157Phe,ENST00000413465,;TP53,missense_variant,p.Val157Phe,ENST00000420246,;TP53,missense_variant,p.Val157Phe,ENST00000269305,;TP53,missense_variant,p.Val25Phe,ENST00000509690,;TP53,missense_variant,p.Val157Phe,ENST00000359597,;TP53,missense_variant,p.Val64Phe,ENST00000514944,;TP53,missense_variant,p.Val157Phe,ENST00000445888,;TP53,missense_variant,p.Val157Phe,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	659	178	75	SUCCESS
DNAH2	146754	.	GRCh37	17	7699791	7699791	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1567714402	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	52	87	1	ENST00000389173.2:c.7684A>G	p.Ile2562Val	p.I2562V	ENST00000389173	NM_020877.2	2562	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32551.1	7684	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGATCATC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Gene3D:3.40.50.300,Pfam_domain:PF12775,Superfamily_domains:SSF52540	.	.	ENSP00000458355	.	50/86	.	.	.	.	.	.	.	.	.	50/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.644)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Ile2562Val,ENST00000389173,;DNAH2,missense_variant,p.Ile2562Val,ENST00000572933,;	9144	88	62	SUCCESS
FASN	2194	.	GRCh37	17	80049390	80049390	+	synonymous_variant	Silent	SNP	C	C	T	rs1330333245	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	146	0	ENST00000306749.2:c.1200G>A	p.Val400=	p.V400=	ENST00000306749	NM_004104.4	400	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11801.1	1200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCACGTT	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.47.10,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	9/43	.	.	.	.	.	.	.	.	.	9/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;	1419	146	117	SUCCESS
MC2R	4158	.	GRCh37	18	13885429	13885429	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	56	0	ENST00000327606.3:c.89T>C	p.Ile30Thr	p.I30T	ENST00000327606	NM_000529.2	30	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11869.1	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATATCTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF3,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00520	.	.	ENSP00000333821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327606	Transcript	.	.	ENSG00000185231	6930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	deleterious(0)	.	ACTHR_HUMAN	MC2R	HGNC	R4GMM0_HUMAN	.	UPI00000503E5	SNV	MC2R,missense_variant,p.Ile30Thr,ENST00000327606,;MC2R,missense_variant,p.Ile30Thr,ENST00000399821,;	270	56	62	SUCCESS
ASXL3	80816	.	GRCh37	18	31320038	31320038	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	50	0	ENST00000269197.5:c.2670A>T	p.Thr890=	p.T890=	ENST00000269197	NM_030632.1	890	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45847.1	2670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACAGATAA	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,synonymous_variant,p.%3D,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	2670	50	47	SUCCESS
RAB3D	9545	.	GRCh37	19	11447930	11447930	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1338861475	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	47	232	0	ENST00000222120.3:c.146C>T	p.Pro49Leu	p.P49L	ENST00000222120	NM_004283.3	49	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12257.1	146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGGAGTG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF330,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000222120	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000222120	Transcript	.	.	ENSG00000105514	9779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0.01)	.	RAB3D_HUMAN	RAB3D	HGNC	.	.	UPI000000125B	SNV	RAB3D,missense_variant,p.Pro49Leu,ENST00000589655,;RAB3D,missense_variant,p.Pro49Leu,ENST00000222120,;	407	232	64	SUCCESS
ZNF66	7617	.	GRCh37	19	20976622	20976622	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1331462627	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	100	0	ENST00000344519.8:c.164A>G	p.His55Arg	p.H55R	ENST00000344519		55	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	.	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCATCTGG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF83,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000461425	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000344519	Transcript	.	.	ENSG00000160229	13135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.06)	.	ZNF66_HUMAN	ZNF66	HGNC	.	.	UPI00025A2C0A	SNV	ZNF66,missense_variant,p.His55Arg,ENST00000594534,;ZNF66,missense_variant,p.His101Arg,ENST00000425625,;ZNF66,missense_variant,p.His55Arg,ENST00000344519,;ZNF66,missense_variant,p.His33Arg,ENST00000360204,;	187	100	65	SUCCESS
ZNF91	7644	.	GRCh37	19	23543010	23543010	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	22	0	ENST00000300619.7:c.2771A>T	p.His924Leu	p.H924L	ENST00000300619	NM_003430.2	924	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS42541.1	2771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGTGTGAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	.	tolerated(0.59)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.His892Leu,ENST00000397082,;ZNF91,missense_variant,p.His924Leu,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	2977	22	25	SUCCESS
MAP2K2	5605	.	GRCh37	19	4110509	4110509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	55	0	ENST00000262948.5:c.448A>T	p.Met150Leu	p.M150L	ENST00000262948	NM_030662.3	150	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS12120.1	448	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CACCATGTGTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262948	.	3/11	.	.	.	.	.	.	.	.	COSM1525235,COSM1525236	3/11	PASS	ENST00000262948	Transcript	1	.	ENSG00000126934	6842	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1	MP2K2_HUMAN	MAP2K2	HGNC	G5E9C7_HUMAN,B3KS97_HUMAN	.	UPI000012F489	SNV	MAP2K2,missense_variant,p.Met53Leu,ENST00000394867,;MAP2K2,missense_variant,p.Met150Leu,ENST00000262948,;MAP2K2,splice_region_variant,,ENST00000599345,;	702	55	15	SUCCESS
C19orf69	0	.	GRCh37	19	41949136	41949136	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	23	0	ENST00000378187.2:c.62C>A	p.Pro21His	p.P21H	ENST00000378187	NM_001130514.1	21	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS46085.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCCCAGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15039	.	.	ENSP00000367429	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000378187	Transcript	.	.	ENSG00000204978	34497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	CS069_HUMAN	C19orf69	HGNC	.	.	UPI00017503B7	SNV	C19orf69,missense_variant,p.Pro21His,ENST00000378187,;ATP5SL,upstream_gene_variant,,ENST00000438807,;ATP5SL,upstream_gene_variant,,ENST00000221943,;ATP5SL,upstream_gene_variant,,ENST00000417807,;ATP5SL,upstream_gene_variant,,ENST00000592922,;ATP5SL,upstream_gene_variant,,ENST00000589102,;ATP5SL,upstream_gene_variant,,ENST00000597457,;ATP5SL,upstream_gene_variant,,ENST00000589970,;ATP5SL,upstream_gene_variant,,ENST00000595425,;ATP5SL,upstream_gene_variant,,ENST00000301183,;ATP5SL,upstream_gene_variant,,ENST00000586786,;ATP5SL,upstream_gene_variant,,ENST00000590641,;ATP5SL,upstream_gene_variant,,ENST00000589503,;ATP5SL,upstream_gene_variant,,ENST00000597608,;ATP5SL,upstream_gene_variant,,ENST00000594339,;ATP5SL,upstream_gene_variant,,ENST00000595407,;	74	23	24	SUCCESS
NUP62	23636	.	GRCh37	19	50412454	50412454	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	99	0	ENST00000352066.3:c.611A>G	p.Gln204Arg	p.Q204R	ENST00000352066	NM_016553.4	204	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS12788.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTGTGTG	NONE	.	.	hmmpanther:PTHR12084,hmmpanther:PTHR12084:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000471191	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000596217	Transcript	1	.	ENSG00000213024	8066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.201)	.	tolerated(0.24)	.	NUP62_HUMAN	NUP62	HGNC	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN	.	UPI000013EAFD	SNV	NUP62,missense_variant,p.Gln204Arg,ENST00000413454,;NUP62,missense_variant,p.Gln204Arg,ENST00000422090,;NUP62,missense_variant,p.Gln204Arg,ENST00000597723,;NUP62,missense_variant,p.Gln204Arg,ENST00000596217,;NUP62,missense_variant,p.Gln204Arg,ENST00000352066,;NUP62,missense_variant,p.Gln204Arg,ENST00000597029,;IL4I1,intron_variant,,ENST00000597295,;IL4I1,intron_variant,,ENST00000596011,;IL4I1,intron_variant,,ENST00000596022,;IL4I1,intron_variant,,ENST00000341114,;IL4I1,intron_variant,,ENST00000595948,;NUP62,downstream_gene_variant,,ENST00000595761,;NUP62,downstream_gene_variant,,ENST00000596437,;NUP62,downstream_gene_variant,,ENST00000599788,;NUP62,downstream_gene_variant,,ENST00000596680,;NUP62,downstream_gene_variant,,ENST00000600645,;NUP62,downstream_gene_variant,,ENST00000600935,;NUP62,downstream_gene_variant,,ENST00000594673,;NUP62,downstream_gene_variant,,ENST00000593652,;NUP62,downstream_gene_variant,,ENST00000599567,;NUP62,non_coding_transcript_exon_variant,,ENST00000595463,;NUP62,downstream_gene_variant,,ENST00000599830,;NUP62,downstream_gene_variant,,ENST00000599560,;NUP62,downstream_gene_variant,,ENST00000601665,;NUP62,downstream_gene_variant,,ENST00000600583,;NUP62,downstream_gene_variant,,ENST00000597814,;NUP62,downstream_gene_variant,,ENST00000595373,;NUP62,downstream_gene_variant,,ENST00000599186,;NUP62,downstream_gene_variant,,ENST00000598301,;IL4I1,intron_variant,,ENST00000601717,;CTC-326K19.6,downstream_gene_variant,,ENST00000451973,;	2499	99	81	SUCCESS
SIGLEC5	8778	.	GRCh37	19	52132822	52132822	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	157	0	ENST00000534261.2:c.489C>A	p.Ser163Arg	p.S163R	ENST00000534261		163	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS33088.1	489	SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCTCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455510	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000570106	Transcript	.	.	ENSG00000105501	10874	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.068)	.	deleterious(0.02)	.	SIGL5_HUMAN	SIGLEC5	HGNC	.	.	UPI000011B40C	SNV	SIGLEC5,missense_variant,p.Ser163Arg,ENST00000534261,;SIGLEC5,missense_variant,p.Ser163Arg,ENST00000599649,;SIGLEC5,missense_variant,p.Ser163Arg,ENST00000570106,;SIGLEC5,missense_variant,p.Ser163Arg,ENST00000429354,;SIGLEC5,missense_variant,p.Ser163Arg,ENST00000222107,;	489	157	114	SUCCESS
ZNF841	284371	.	GRCh37	19	52570324	52570324	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	117	1	ENST00000426391.2:c.463A>T	p.Arg155Ter	p.R155*	ENST00000426391		155	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46161.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTGAAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,stop_gained,p.Arg167Ter,ENST00000601738,;ZNF841,stop_gained,p.Arg271Ter,ENST00000389534,;ZNF841,stop_gained,p.Arg155Ter,ENST00000426391,;ZNF841,stop_gained,p.Arg155Ter,ENST00000359973,;ZNF841,stop_gained,p.Arg271Ter,ENST00000594295,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	1271	118	79	SUCCESS
ZNF525	170958	.	GRCh37	19	53885102	53885102	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	30	0	ENST00000355326.3:c.424T>C	p.Ser142Pro	p.S142P	ENST00000355326		142	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	.	1270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAATCAAGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_profiles:PS50157	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious(0.01)	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,missense_variant,p.Ser142Pro,ENST00000355326,;ZNF525,missense_variant,p.Ser424Pro,ENST00000474037,;ZNF525,missense_variant,p.Ser388Pro,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	1404	30	30	SUCCESS
NLRP12	91662	.	GRCh37	19	54327460	54327460	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	43	0	ENST00000324134.6:c.-32A>T		p.*11*	ENST00000324134	NM_144687.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12864.1	.	RADIA|MUTECT|MUSE	.	GGACCTGGAGG	NONE	.	.	.	.	.	ENSP00000319377	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,5_prime_UTR_variant,,ENST00000535162,;NLRP12,5_prime_UTR_variant,,ENST00000391775,;NLRP12,5_prime_UTR_variant,,ENST00000354278,;NLRP12,5_prime_UTR_variant,,ENST00000391773,;NLRP12,5_prime_UTR_variant,,ENST00000324134,;NLRP12,5_prime_UTR_variant,,ENST00000391772,;NLRP12,5_prime_UTR_variant,,ENST00000345770,;NLRP12,5_prime_UTR_variant,,ENST00000351894,;	138	43	42	SUCCESS
NLRP2	55655	.	GRCh37	19	55496458	55496458	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	74	1	ENST00000448584.2:c.2074T>A	p.Cys692Ser	p.C692S	ENST00000448584	NM_001174083.1	692	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS12913.1	2074	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCTTTGTTCC	NONE	.	.	hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000445135	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.535)	.	deleterious(0.01)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Cys670Ser,ENST00000537859,;NLRP2,missense_variant,p.Cys689Ser,ENST00000263437,;NLRP2,missense_variant,p.Cys668Ser,ENST00000391721,;NLRP2,missense_variant,p.Cys670Ser,ENST00000339757,;NLRP2,missense_variant,p.Cys692Ser,ENST00000543010,;NLRP2,missense_variant,p.Cys668Ser,ENST00000538819,;NLRP2,missense_variant,p.Cys692Ser,ENST00000448584,;NLRP2,missense_variant,p.Cys97Ser,ENST00000540005,;NLRP2,missense_variant,p.Cys669Ser,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	2217	76	46	SUCCESS
ZNF581	51545	.	GRCh37	19	56156253	56156253	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	76	212	0	ENST00000270451.5:c.316A>T	p.Ser106Cys	p.S106C	ENST00000270451	NM_016535.3	106	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12932.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACAGCATC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF110,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000466047	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000587252	Transcript	.	.	ENSG00000171425	25017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	ZN581_HUMAN	ZNF581	HGNC	K7EM32_HUMAN	.	UPI0000070E84	SNV	ZNF581,missense_variant,p.Ser106Cys,ENST00000588537,;ZNF581,missense_variant,p.Ser106Cys,ENST00000270451,;ZNF581,missense_variant,p.Ser106Cys,ENST00000587252,;ZNF581,missense_variant,p.Ser106Cys,ENST00000585995,;CCDC106,intron_variant,,ENST00000592996,;ZNF580,downstream_gene_variant,,ENST00000592881,;ZNF580,downstream_gene_variant,,ENST00000325333,;CCDC106,upstream_gene_variant,,ENST00000591241,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000545125,;ZNF580,downstream_gene_variant,,ENST00000543039,;CCDC106,upstream_gene_variant,,ENST00000308964,;CCDC106,upstream_gene_variant,,ENST00000591578,;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000586790,;CCDC106,upstream_gene_variant,,ENST00000593069,;CCDC106,upstream_gene_variant,,ENST00000587213,;CCDC106,upstream_gene_variant,,ENST00000586864,;	589	212	155	SUCCESS
ZNF470	388566	.	GRCh37	19	57088220	57088220	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	69	0	ENST00000330619.8:c.423T>G	p.Cys141Trp	p.C141W	ENST00000330619	NM_001001668.3	141	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS33122.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTGAAGA	NONE	.	.	hmmpanther:PTHR24377	.	.	ENSP00000333223	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330619	Transcript	.	.	ENSG00000197016	22220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.16)	.	ZN470_HUMAN	ZNF470	HGNC	.	.	UPI0000D61826	SNV	ZNF470,missense_variant,p.Cys141Trp,ENST00000391709,;ZNF470,missense_variant,p.Cys141Trp,ENST00000330619,;ZNF470,intron_variant,,ENST00000594953,;ZNF470,intron_variant,,ENST00000601902,;ZNF470,intron_variant,,ENST00000601059,;	1109	70	55	SUCCESS
ZNF835	90485	.	GRCh37	19	57175003	57175003	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	54	172	0	ENST00000537055.2:c.1564T>A	p.Cys522Ser	p.C522S	ENST00000537055	NM_001005850.2	522	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS56105.1	1564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACAGGTTT	NONE	.	.	.	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.87)	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,missense_variant,p.Cys522Ser,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1796	172	134	SUCCESS
KIF1B	23095	.	GRCh37	1	10384901	10384901	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	72	0	ENST00000377086.1:c.2623A>C	p.Thr875Pro	p.T875P	ENST00000377086		875	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS111.1	2485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGACTGGC	NONE	.	.	hmmpanther:PTHR24115:SF328,hmmpanther:PTHR24115,Pfam_domain:PF12423	.	.	ENSP00000263934	.	24/47	.	.	.	.	.	.	.	.	.	24/47	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,missense_variant,p.Thr875Pro,ENST00000377081,;KIF1B,missense_variant,p.Thr875Pro,ENST00000377086,;KIF1B,missense_variant,p.Thr829Pro,ENST00000263934,;	2638	72	75	SUCCESS
ADORA3	140	.	GRCh37	1	112045693	112045693	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	77	308	1	ENST00000241356.4:c.284A>T	p.His95Leu	p.H95L	ENST00000241356	NM_000677.3	95	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS838.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGTGGGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00555	.	.	ENSP00000358730	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000369716	Transcript	.	.	ENSG00000121933	268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.471)	.	tolerated_low_confidence(0.11)	.	AA3R_HUMAN	ADORA3	HGNC	.	.	UPI000004C602	SNV	ADORA3,missense_variant,p.His95Leu,ENST00000369716,;ADORA3,missense_variant,p.His95Leu,ENST00000241356,;ADORA3,intron_variant,,ENST00000443498,;ADORA3,intron_variant,,ENST00000369717,;ADORA3,non_coding_transcript_exon_variant,,ENST00000486342,;ADORA3,intron_variant,,ENST00000495493,;	418	310	181	SUCCESS
LRIG2	9860	.	GRCh37	1	113655151	113655151	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	118	0	ENST00000361127.5:c.1849G>T	p.Ala617Ser	p.A617S	ENST00000361127	NM_014813.1	617	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS30808.1	1849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGCCATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24367:SF230,hmmpanther:PTHR24367,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000355396	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000361127	Transcript	.	.	ENSG00000198799	20889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.25)	.	LRIG2_HUMAN	LRIG2	HGNC	.	.	UPI000006F613	SNV	LRIG2,missense_variant,p.Ala617Ser,ENST00000361127,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;LRIG2,downstream_gene_variant,,ENST00000466069,;	2047	118	73	SUCCESS
SCNN1D	6339	.	GRCh37	1	1223365	1223365	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	44	125	0	ENST00000338555.2:c.1118G>T	p.Gly373Val	p.G373V	ENST00000338555		373	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44037.2	1610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGGCGGGG	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF132,Pfam_domain:PF00858,Gene3D:2qtsA02,TIGRFAM_domain:TIGR00859	.	.	ENSP00000368411	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000379116	Transcript	.	.	ENSG00000162572	10601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.332)	.	deleterious(0)	.	.	SCNN1D	HGNC	A6NNF7_HUMAN	.	UPI0001EF94B5	SNV	SCNN1D,missense_variant,p.Gly373Val,ENST00000338555,;SCNN1D,missense_variant,p.Gly439Val,ENST00000325425,;SCNN1D,missense_variant,p.Gly190Val,ENST00000379099,;SCNN1D,missense_variant,p.Gly373Val,ENST00000400928,;SCNN1D,missense_variant,p.Gly537Val,ENST00000379116,;ACAP3,downstream_gene_variant,,ENST00000354700,;ACAP3,downstream_gene_variant,,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000470022,;SCNN1D,downstream_gene_variant,,ENST00000467651,;SCNN1D,3_prime_UTR_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000467278,;ACAP3,downstream_gene_variant,,ENST00000492936,;	1836	125	86	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144854658	144854658	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	7	122	0	ENST00000369354.3:c.6814-2A>T		p.X2272_splice	ENST00000369354		2272		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55627.1	.	MUTECT|MUSE	.	CTCCCTGGATA	NONE	.	.	.	.	.	ENSP00000358363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	HIGH	41/43	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,splice_acceptor_variant,,ENST00000369356,;PDE4DIP,splice_acceptor_variant,,ENST00000369354,;PDE4DIP,splice_acceptor_variant,,ENST00000369359,;PDE4DIP,splice_acceptor_variant,,ENST00000530740,;PDE4DIP,splice_acceptor_variant,,ENST00000313382,;PDE4DIP,downstream_gene_variant,,ENST00000530130,;RP4-791M13.4,upstream_gene_variant,,ENST00000532137,;PDE4DIP,splice_acceptor_variant,,ENST00000524974,;PDE4DIP,splice_acceptor_variant,,ENST00000525630,;PDE4DIP,upstream_gene_variant,,ENST00000531417,;PDE4DIP,downstream_gene_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000526182,;PDE4DIP,upstream_gene_variant,,ENST00000460027,;PDE4DIP,splice_acceptor_variant,,ENST00000533768,;PDE4DIP,splice_acceptor_variant,,ENST00000530062,;PDE4DIP,downstream_gene_variant,,ENST00000534466,;PDE4DIP,downstream_gene_variant,,ENST00000534367,;PDE4DIP,upstream_gene_variant,,ENST00000524688,;PDE4DIP,upstream_gene_variant,,ENST00000464924,;	.	122	128	SUCCESS
RNF115	27246	.	GRCh37	1	145688137	145688137	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	54	151	0	ENST00000369291.5:c.832A>T	p.Thr278Ser	p.T278S	ENST00000369291	NM_014455.3	278	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS922.1	832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTACTCGG	NONE	.	.	hmmpanther:PTHR22763:SF7,hmmpanther:PTHR22763	.	.	ENSP00000358297	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000369291	Transcript	.	.	ENSG00000121848	18154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.52)	.	RN115_HUMAN	RNF115	HGNC	.	.	UPI00001B061B	SNV	RNF115,missense_variant,p.Thr278Ser,ENST00000369291,;RNF115,downstream_gene_variant,,ENST00000539368,;	1036	151	218	SUCCESS
FLG	2312	.	GRCh37	1	152279631	152279631	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	227	70	193	0	ENST00000368799.1:c.7731A>C	p.Ser2577=	p.S2577=	ENST00000368799	NM_002016.1	2577	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30860.1	7731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTGAGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7767	194	298	SUCCESS
KPRP	448834	.	GRCh37	1	152732782	152732782	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs752539096	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	34	78	0	ENST00000606109.1:c.718T>A	p.Tyr240Asn	p.Y240N	ENST00000606109		240	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS30862.1	718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTATGGG	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	rs752539096	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Tyr240Asn,ENST00000368773,;KPRP,missense_variant,p.Tyr240Asn,ENST00000606109,;	776	78	140	SUCCESS
LCE1B	353132	.	GRCh37	1	152785001	152785001	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	158	226	0	ENST00000360090.3:c.79C>G	p.Pro27Ala	p.P27A	ENST00000360090	NM_178349.1	27	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS1027.1	79	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCCTAGA	NONE	.	.	hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Pfam_domain:PF14672	.	.	ENSP00000353203	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360090	Transcript	.	.	ENSG00000196734	16611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	LCE1B_HUMAN	LCE1B	HGNC	.	.	UPI000014099C	SNV	LCE1B,missense_variant,p.Pro27Ala,ENST00000360090,;	555	227	328	SUCCESS
ASH1L	55870	.	GRCh37	1	155449286	155449286	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	47	133	0	ENST00000368346.3:c.3375A>T	p.Ala1125=	p.A1125=	ENST00000368346		1125	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1113.2	3375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTGCATC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,synonymous_variant,p.%3D,ENST00000368346,;ASH1L,synonymous_variant,p.%3D,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000548830,;	3854	133	175	SUCCESS
HAPLN2	60484	.	GRCh37	1	156594457	156594457	+	synonymous_variant	Silent	SNP	T	T	A	rs763079436	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	29	0	ENST00000255039.1:c.621T>A	p.Pro207=	p.P207=	ENST00000255039	NM_021817.2	207	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1148.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCTGTGCT	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF8,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436,Prints_domain:PR01265	.	.	ENSP00000255039	.	6/7	.	.	.	.	.	.	.	.	rs763079436	6/7	PASS	ENST00000255039	Transcript	.	.	ENSG00000132702	17410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPLN2_HUMAN	HAPLN2	HGNC	Q5T3J1_HUMAN,Q5T3J0_HUMAN	.	UPI00000012E0	SNV	HAPLN2,synonymous_variant,p.%3D,ENST00000255039,;HAPLN2,downstream_gene_variant,,ENST00000456112,;HAPLN2,non_coding_transcript_exon_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000482204,;HAPLN2,downstream_gene_variant,,ENST00000487988,;	1028	29	29	SUCCESS
CRABP2	1382	.	GRCh37	1	156670823	156670823	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	76	0	ENST00000368221.1:c.92A>T	p.Lys31Met	p.K31M	ENST00000368221		31	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS1152.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTTCCTC	NONE	.	.	Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955:SF60,hmmpanther:PTHR11955	.	.	ENSP00000357205	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000368222	Transcript	.	.	ENSG00000143320	2339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	deleterious(0.04)	.	RABP2_HUMAN	CRABP2	HGNC	Q5SYZ4_HUMAN	.	UPI00000362E0	SNV	CRABP2,missense_variant,p.Lys31Met,ENST00000368220,;CRABP2,missense_variant,p.Lys31Met,ENST00000368222,;CRABP2,missense_variant,p.Lys31Met,ENST00000368221,;	247	76	112	SUCCESS
FCRL1	115350	.	GRCh37	1	157767574	157767574	+	intron_variant	Intron	SNP	T	T	A	rs775828673	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	29	113	0	ENST00000368176.3:c.1186+84A>T		p.*396*	ENST00000368176	NM_001159398.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1170.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTTGTCTG	NONE	byFrequency	.	.	.	.	ENSP00000357158	.	.	.	.	.	.	.	.	.	.	rs775828673	.	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Gln345Leu,ENST00000358292,;FCRL1,intron_variant,,ENST00000368176,;FCRL1,intron_variant,,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000495126,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,intron_variant,,ENST00000489998,;FCRL1,intron_variant,,ENST00000368175,;	.	113	180	SUCCESS
NUF2	83540	.	GRCh37	1	163295880	163295880	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	16	56	0	ENST00000271452.3:c.39G>C	p.Glu13Asp	p.E13D	ENST00000271452	NM_145697.2	13	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS1245.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGATTGT	NONE	.	.	hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF2,Pfam_domain:PF03800	.	.	ENSP00000271452	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000271452	Transcript	.	.	ENSG00000143228	14621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.51)	.	NUF2_HUMAN	NUF2	HGNC	E9PKH1_HUMAN,B1AQT4_HUMAN,B1AQT3_HUMAN	.	UPI000006D211	SNV	NUF2,missense_variant,p.Glu13Asp,ENST00000367900,;NUF2,missense_variant,p.Glu13Asp,ENST00000524800,;NUF2,missense_variant,p.Glu13Asp,ENST00000450453,;NUF2,missense_variant,p.Glu13Asp,ENST00000442820,;NUF2,missense_variant,p.Glu13Asp,ENST00000534289,;NUF2,missense_variant,p.Glu13Asp,ENST00000271452,;RP11-267N12.3,upstream_gene_variant,,ENST00000526176,;RP11-267N12.3,upstream_gene_variant,,ENST00000528019,;RP11-267N12.3,upstream_gene_variant,,ENST00000439699,;RP11-267N12.3,upstream_gene_variant,,ENST00000449680,;RP11-267N12.3,upstream_gene_variant,,ENST00000429865,;RP11-267N12.3,upstream_gene_variant,,ENST00000427213,;RP11-267N12.3,upstream_gene_variant,,ENST00000528689,;NUF2,non_coding_transcript_exon_variant,,ENST00000490881,;RGS5,upstream_gene_variant,,ENST00000534288,;RGS5,upstream_gene_variant,,ENST00000531954,;RGS5,upstream_gene_variant,,ENST00000428971,;RGS5,upstream_gene_variant,,ENST00000530241,;NUF2,missense_variant,p.Glu13Asp,ENST00000497990,;NUF2,non_coding_transcript_exon_variant,,ENST00000487578,;RP11-267N12.3,upstream_gene_variant,,ENST00000528818,;	318	56	87	SUCCESS
SPATA21	374955	.	GRCh37	1	16748620	16748620	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	20	0	ENST00000335496.1:c.35-154T>C		p.*12*	ENST00000335496	NM_198546.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS172.1	.	MUTECT|MUSE	.	GGCCAAGCGGC	NONE	.	.	.	.	.	ENSP00000335612	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335496	Transcript	.	.	ENSG00000187144	28026	.	.	MODIFIER	3/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPT21_HUMAN	SPATA21	HGNC	.	.	UPI00001B4B16	SNV	SPATA21,intron_variant,,ENST00000540400,;SPATA21,intron_variant,,ENST00000335496,;SPATA21,downstream_gene_variant,,ENST00000375577,;SPATA21,non_coding_transcript_exon_variant,,ENST00000466212,;	.	20	9	SUCCESS
TEX35	84066	.	GRCh37	1	178490806	178490806	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	36	135	0	ENST00000319416.2:c.586+407G>T		p.*196*	ENST00000319416	NM_032126.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1323.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAGCGCAG	NONE	.	.	.	.	.	ENSP00000323795	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319416	Transcript	.	.	ENSG00000240021	25366	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX35_HUMAN	TEX35	HGNC	.	.	UPI00001405CF	SNV	TEX35,splice_acceptor_variant,,ENST00000367643,;TEX35,3_prime_UTR_variant,,ENST00000367642,;TEX35,3_prime_UTR_variant,,ENST00000442872,;TEX35,3_prime_UTR_variant,,ENST00000367641,;TEX35,intron_variant,,ENST00000319416,;TEX35,intron_variant,,ENST00000258298,;TEX35,intron_variant,,ENST00000367639,;TEX35,intron_variant,,ENST00000419909,;	.	135	174	SUCCESS
TDRD5	163589	.	GRCh37	1	179562787	179562787	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	238	74	192	1	ENST00000294848.8:c.425T>A	p.Leu142Gln	p.L142Q	ENST00000294848	NM_173533.3	142	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS55663.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTGTTGG	NONE	.	.	Pfam_domain:PF12872,hmmpanther:PTHR22948,PROSITE_profiles:PS51644	.	.	ENSP00000406052	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Leu142Gln,ENST00000367614,;TDRD5,missense_variant,p.Leu142Gln,ENST00000444136,;TDRD5,missense_variant,p.Leu142Gln,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;	675	193	312	SUCCESS
GLUL	2752	.	GRCh37	1	182353642	182353642	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	37	124	0	ENST00000311223.5:c.1020T>C	p.Arg340=	p.R340=	ENST00000311223	NM_002065.5	340	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS1344.1	1020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGACGATC	NONE	.	.	hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF45,Pfam_domain:PF00120,Gene3D:3.30.590.10,Superfamily_domains:SSF55931	.	.	ENSP00000307900	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000311223	Transcript	.	.	ENSG00000135821	4341	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLNA_HUMAN	GLUL	HGNC	B4DWM6_HUMAN,A8YXX4_HUMAN	.	UPI000012B6E3	SNV	GLUL,synonymous_variant,p.%3D,ENST00000311223,;GLUL,synonymous_variant,p.%3D,ENST00000417584,;GLUL,synonymous_variant,p.%3D,ENST00000331872,;GLUL,synonymous_variant,p.%3D,ENST00000339526,;GLUL,non_coding_transcript_exon_variant,,ENST00000463851,;GLUL,non_coding_transcript_exon_variant,,ENST00000461447,;GLUL,non_coding_transcript_exon_variant,,ENST00000491322,;GLUL,downstream_gene_variant,,ENST00000475808,;GLUL,downstream_gene_variant,,ENST00000462444,;GLUL,downstream_gene_variant,,ENST00000489818,;GLUL,downstream_gene_variant,,ENST00000484996,;GLUL,downstream_gene_variant,,ENST00000480604,;	1917	124	186	SUCCESS
KCNT2	343450	.	GRCh37	1	196197434	196197434	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	58	0	ENST00000294725.9:c.3328C>G	p.Leu1110Val	p.L1110V	ENST00000294725		1110	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS1384.1	3328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGGTAGG	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9	.	.	ENSP00000294725	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	SNV	KCNT2,missense_variant,p.Leu1043Val,ENST00000609185,;KCNT2,missense_variant,p.Leu1110Val,ENST00000294725,;KCNT2,missense_variant,p.Leu1086Val,ENST00000367433,;KCNT2,missense_variant,p.Leu1044Val,ENST00000367431,;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;	4244	58	77	SUCCESS
CACNA1S	779	.	GRCh37	1	201060850	201060850	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	30	187	0	ENST00000362061.3:c.612C>T	p.Leu204=	p.L204=	ENST00000362061	NM_000069.2	204	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1407.1	612	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAGAGGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	5/44	.	.	.	.	.	.	.	.	.	5/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,synonymous_variant,p.%3D,ENST00000367338,;CACNA1S,synonymous_variant,p.%3D,ENST00000362061,;	839	187	195	SUCCESS
PLA2G2F	64600	.	GRCh37	1	20474788	20474788	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	74	282	1	ENST00000375102.3:c.530T>A	p.Leu177His	p.L177H	ENST00000375102	NM_022819.3	177	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS204.2	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTCAATG	NONE	.	.	hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF8,Gene3D:1.20.90.10,SMART_domains:SM00085,Superfamily_domains:SSF48619	.	.	ENSP00000364243	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375102	Transcript	.	.	ENSG00000158786	30040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.12)	.	PA2GF_HUMAN	PLA2G2F	HGNC	.	.	UPI0000044C9D	SNV	PLA2G2F,missense_variant,p.Leu177His,ENST00000375102,;PLA2G2F,downstream_gene_variant,,ENST00000465062,;	632	283	175	SUCCESS
MFSD4	0	.	GRCh37	1	205553249	205553249	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	48	0	ENST00000367147.4:c.857T>A	p.Leu286Gln	p.L286Q	ENST00000367147	NM_181644.4	286	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1455.1	857	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACACCTAGGTA	NONE	.	.	hmmpanther:PTHR23121:SF10,hmmpanther:PTHR23121,Pfam_domain:PF07690	.	.	ENSP00000356115	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000367147	Transcript	.	.	ENSG00000174514	25433	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.71)	.	MFSD4_HUMAN	MFSD4	HGNC	.	.	UPI000019855C	SNV	MFSD4,missense_variant,p.Leu199Gln,ENST00000536357,;MFSD4,missense_variant,p.Leu286Gln,ENST00000539267,;MFSD4,missense_variant,p.Leu286Gln,ENST00000367147,;MFSD4,splice_region_variant,,ENST00000475956,;MFSD4,intron_variant,,ENST00000489709,;	950	48	42	SUCCESS
USH2A	7399	.	GRCh37	1	216420052	216420052	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	56	171	0	ENST00000307340.3:c.2684A>T	p.Gln895Leu	p.Q895L	ENST00000307340	NM_206933.2	895	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS31025.1	2684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTTGAAAA	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	13/72	.	.	.	.	.	.	.	.	.	13/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Gln895Leu,ENST00000366942,;USH2A,missense_variant,p.Gln895Leu,ENST00000366943,;USH2A,missense_variant,p.Gln895Leu,ENST00000307340,;	3071	172	217	SUCCESS
PRSS38	339501	.	GRCh37	1	228003457	228003457	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	123	0	ENST00000366757.3:c.40T>A	p.Ser14Thr	p.S14T	ENST00000366757	NM_183062.2	14	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1563.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTCTGCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24266:SF4,hmmpanther:PTHR24266	.	.	ENSP00000355719	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000366757	Transcript	.	.	ENSG00000185888	29625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.48)	.	PRS38_HUMAN	PRSS38	HGNC	.	.	UPI00001BBB34	SNV	PRSS38,missense_variant,p.Ser14Thr,ENST00000366757,;	64	123	118	SUCCESS
OBSCN	84033	.	GRCh37	1	228447428	228447429	+	intron_variant	Intron	INS	-	-	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	156	50	165	0	ENST00000422127.1:c.4585+2802dup		p.*1529*	ENST00000422127	NM_001098623.2	1696		0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS59204.1	5088-5089	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTATAGCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	17/116	.	.	.	.	.	.	.	.	.	17/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	insertion	OBSCN,frameshift_variant,p.Ser169LysfsTer3,ENST00000359599,;OBSCN,frameshift_variant,p.Ser1697LysfsTer3,ENST00000570156,;OBSCN,intron_variant,,ENST00000366707,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;	5162-5163	165	206	SUCCESS
OBSCN	84033	.	GRCh37	1	228563447	228563447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370427130	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	37	166	0	ENST00000422127.1:c.22708G>A	p.Ala7570Thr	p.A7570T	ENST00000422127	NM_001098623.2	7570	Gcg/Acg	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS59204.1	25579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACGCGGAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	A:0.0001	ENSP00000455507	.	109/116	.	.	.	.	.	.	.	.	rs370427130,COSM905168,COSM1584237	109/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.533)	.	.	0,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala5204Thr,ENST00000366707,;OBSCN,missense_variant,p.Ala2187Thr,ENST00000441106,;OBSCN,missense_variant,p.Ala7570Thr,ENST00000422127,;OBSCN,missense_variant,p.Ala8527Thr,ENST00000570156,;	25653	166	155	SUCCESS
PCNXL2	0	.	GRCh37	1	233334740	233334740	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1227530297	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	7	226	0	ENST00000258229.9:c.3011C>G	p.Ala1004Gly	p.A1004G	ENST00000258229	NM_014801.3	1004	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS44335.1	3011	MUTECT|MUSE	.	TCCGGGCCACA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.38)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Ala173Gly,ENST00000518351,;PCNXL2,missense_variant,p.Ala137Gly,ENST00000488780,;PCNXL2,missense_variant,p.Ala1004Gly,ENST00000258229,;PCNXL2,downstream_gene_variant,,ENST00000430153,;PCNXL2,missense_variant,p.Ala26Gly,ENST00000462233,;PCNXL2,3_prime_UTR_variant,,ENST00000475463,;PCNXL2,downstream_gene_variant,,ENST00000324142,;PCNXL2,downstream_gene_variant,,ENST00000517808,;	3246	226	261	SUCCESS
ARID1A	8289	.	GRCh37	1	27107029	27107029	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	114	0	ENST00000324856.7:c.6640A>T	p.Ser2214Cys	p.S2214C	ENST00000324856	NM_006015.4	2214	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS285.1	6640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGCCTC	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Ser1997Cys,ENST00000457599,;ARID1A,missense_variant,p.Ser1831Cys,ENST00000374152,;ARID1A,missense_variant,p.Ser1111Cys,ENST00000430799,;ARID1A,missense_variant,p.Ser542Cys,ENST00000540690,;ARID1A,missense_variant,p.Ser2214Cys,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	7011	114	81	SUCCESS
MAP3K6	9064	.	GRCh37	1	27684710	27684710	+	synonymous_variant	Silent	SNP	C	C	T	rs376956203	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	111	0	ENST00000357582.2:c.2877G>A	p.Pro959=	p.P959=	ENST00000357582		959	ccG/ccA	0	T:0.0002	.	.	.	.	T	P	protein_coding	YES	CCDS299.1	2877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTCGGGGG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF371,Superfamily_domains:SSF56112	.	T:0	ENSP00000419591	.	22/30	.	.	.	.	.	.	.	.	rs376956203	22/30	PASS	ENST00000493901	Transcript	.	.	ENSG00000142733	6858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K6_HUMAN	MAP3K6	HGNC	Q32MQ5_HUMAN	.	UPI0000205587	SNV	MAP3K6,synonymous_variant,p.%3D,ENST00000374040,;MAP3K6,synonymous_variant,p.%3D,ENST00000357582,;MAP3K6,synonymous_variant,p.%3D,ENST00000472410,;MAP3K6,synonymous_variant,p.%3D,ENST00000493901,;MAP3K6,upstream_gene_variant,,ENST00000486046,;SYTL1,downstream_gene_variant,,ENST00000543823,;SYTL1,downstream_gene_variant,,ENST00000318074,;SYTL1,downstream_gene_variant,,ENST00000490170,;MAP3K6,upstream_gene_variant,,ENST00000470890,;SYTL1,downstream_gene_variant,,ENST00000475199,;MAP3K6,upstream_gene_variant,,ENST00000476509,;SYTL1,downstream_gene_variant,,ENST00000483926,;MAP3K6,upstream_gene_variant,,ENST00000495230,;	3117	111	90	SUCCESS
PRDM16	63976	.	GRCh37	1	3328344	3328344	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	48	0	ENST00000270722.5:c.1583T>A	p.Leu528Gln	p.L528Q	ENST00000270722		528	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS41236.2	1583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTGCTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393	.	.	ENSP00000270722	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.Leu528Gln,ENST00000441472,;PRDM16,missense_variant,p.Leu529Gln,ENST00000514189,;PRDM16,missense_variant,p.Leu337Gln,ENST00000509860,;PRDM16,missense_variant,p.Leu528Gln,ENST00000270722,;PRDM16,missense_variant,p.Leu528Gln,ENST00000442529,;PRDM16,missense_variant,p.Leu529Gln,ENST00000511072,;PRDM16,missense_variant,p.Leu529Gln,ENST00000378398,;PRDM16,missense_variant,p.Leu528Gln,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	1632	48	25	SUCCESS
CSMD2	114784	.	GRCh37	1	34038176	34038176	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs771706014	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	94	0	ENST00000241312.4:c.7698C>T	p.Gly2566=	p.G2566=	ENST00000241312		2566	ggC/ggT	0	.	.	.	.	.	A	G	nonsense_mediated_decay	YES	CCDS380.1	7698	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGCCTGC	NONE	byFrequency	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	51/70	.	.	.	.	.	.	.	.	rs771706014,COSM1341968,COSM1341969	51/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,non_coding_transcript_exon_variant,,ENST00000465819,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	7727	94	77	SUCCESS
MTF1	4520	.	GRCh37	1	38287832	38287832	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	68	217	1	ENST00000373036.4:c.1728A>C	p.Leu576Phe	p.L576F	ENST00000373036	NM_005955.2	576	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS30676.1	1728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTTAATAT	NONE	.	.	hmmpanther:PTHR11389:SF347,hmmpanther:PTHR11389	.	.	ENSP00000362127	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000373036	Transcript	.	.	ENSG00000188786	7428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MTF1_HUMAN	MTF1	HGNC	O14945_HUMAN	.	UPI000006E9B3	SNV	MTF1,missense_variant,p.Leu576Phe,ENST00000373036,;AL929472.1,downstream_gene_variant,,ENST00000448796,;	1869	219	147	SUCCESS
FOXJ3	22887	.	GRCh37	1	42657316	42657316	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	49	206	2	ENST00000361346.1:c.1009A>T	p.Thr337Ser	p.T337S	ENST00000361346	NM_014947.4	337	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS30689.1	1009	RADIA|SOMATICSNIPER|VARSCANS	.	CACTGTACTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829	.	.	ENSP00000361653	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000372572	Transcript	.	.	ENSG00000198815	29178	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.055)	.	tolerated(0.36)	.	FOXJ3_HUMAN	FOXJ3	HGNC	F6VXT0_HUMAN,C9JXI1_HUMAN	.	UPI000013D359	SNV	FOXJ3,missense_variant,p.Thr337Ser,ENST00000372572,;FOXJ3,missense_variant,p.Thr337Ser,ENST00000361346,;FOXJ3,missense_variant,p.Thr303Ser,ENST00000361776,;FOXJ3,missense_variant,p.Thr303Ser,ENST00000445886,;FOXJ3,missense_variant,p.Thr337Ser,ENST00000372573,;FOXJ3,missense_variant,p.Thr337Ser,ENST00000545068,;FOXJ3,upstream_gene_variant,,ENST00000372571,;FOXJ3,downstream_gene_variant,,ENST00000422278,;	1321	208	141	SUCCESS
CCDC30	728621	.	GRCh37	1	43055011	43055011	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145632548	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	61	0	ENST00000340612.4:c.1240G>A	p.Val414Ile	p.V414I	ENST00000340612		414	Gta/Ata	0	A:0.0005	.	.	.	.	A	V/I	protein_coding	YES	CCDS30690.1	1240	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGAACGTAGAT	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil	.	A:0	ENSP00000397035	.	16/23	.	.	.	.	.	.	.	.	rs145632548,COSM909656,COSM3386165	16/23	PASS	ENST00000428554	Transcript	.	.	ENSG00000186409	26103	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.004)	.	tolerated(0.63)	0,1,1	CCD30_HUMAN	CCDC30	HGNC	D6RFH8_HUMAN	.	UPI0000458A0B	SNV	CCDC30,missense_variant,p.Val203Ile,ENST00000390640,;CCDC30,missense_variant,p.Val203Ile,ENST00000507855,;CCDC30,missense_variant,p.Val414Ile,ENST00000428554,;CCDC30,missense_variant,p.Val414Ile,ENST00000340612,;CCDC30,missense_variant,p.Val414Ile,ENST00000342022,;CCDC30,non_coding_transcript_exon_variant,,ENST00000471699,;CCDC30,missense_variant,p.Val112Ile,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;CCDC30,non_coding_transcript_exon_variant,,ENST00000514642,;	2383	61	43	SUCCESS
PTCH2	8643	.	GRCh37	1	45307528	45307528	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	214	1	ENST00000372192.3:c.256T>A	p.Trp86Arg	p.W86R	ENST00000372192	NM_003738.4	86	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS516.1	256	RADIA|MUTECT|MUSE	.	TACCCAGAGCT	NONE	.	.	TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62	.	.	ENSP00000361266	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000372192	Transcript	.	.	ENSG00000117425	9586	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	PTC2_HUMAN	PTCH2	HGNC	.	.	UPI00001328B8	SNV	PTCH2,missense_variant,p.Trp86Arg,ENST00000447098,;PTCH2,missense_variant,p.Trp86Arg,ENST00000372192,;RP5-882O7.1,downstream_gene_variant,,ENST00000447970,;	387	215	129	SUCCESS
PIN1P1	5301	.	GRCh37	1	70385239	70385239	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	8	0	ENST00000412108.1:n.235C>T		p.*79*	ENST00000412108				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS645.1	.	MUTECT|MUSE	.	CAAGGCGGCCC	NONE	.	.	.	.	.	ENSP00000035383	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODIFIER	5/24	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,intron_variant,,ENST00000415775,;LRRC7,intron_variant,,ENST00000035383,;LRRC7,intron_variant,,ENST00000310961,;PIN1P1,non_coding_transcript_exon_variant,,ENST00000412108,;PIN1P1,non_coding_transcript_exon_variant,,ENST00000439639,;	.	8	11	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20585826	20585826	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	93	0	ENST00000202677.7:c.2031A>T	p.Arg677=	p.R677=	ENST00000202677	NM_020343.3	677	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46584.1	2031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCTCGTTG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	.	.	ENSP00000202677	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,synonymous_variant,p.%3D,ENST00000202677,;RALGAPA2,synonymous_variant,p.%3D,ENST00000430436,;RALGAPA2,non_coding_transcript_exon_variant,,ENST00000495793,;	2039	93	92	SUCCESS
CASS4	57091	.	GRCh37	20	54987340	54987340	+	intron_variant	Intron	SNP	A	A	T	rs564195571	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	8	0	ENST00000360314.3:c.-122-53A>T		p.*41*	ENST00000360314	NM_001164116.1			0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS33492.1	.	MUTECT|MUSE	.	TTTCCAGAAAG	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000360387	G:0	1/6	.	.	.	.	.	.	.	.	rs564195571	1/6	PASS	ENST00000371336	Transcript	.	G:0.0006	ENSG00000087589	15878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0.0031	.	.	CASS4_HUMAN	CASS4	HGNC	.	.	UPI00001285DB	SNV	CASS4,5_prime_UTR_variant,,ENST00000371336,;CASS4,5_prime_UTR_variant,,ENST00000434344,;CASS4,intron_variant,,ENST00000360314,;CASS4,upstream_gene_variant,,ENST00000497244,;	27	8	12	SUCCESS
PMEPA1	56937	.	GRCh37	20	56227157	56227157	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	25	0	ENST00000341744.3:c.816A>T	p.Ala272=	p.A272=	ENST00000341744	NM_020182.4	272	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13463.1	816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCTGCGCT	NONE	.	.	hmmpanther:PTHR16514,hmmpanther:PTHR16514:SF5	.	.	ENSP00000345826	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000341744	Transcript	.	.	ENSG00000124225	14107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMEPA_HUMAN	PMEPA1	HGNC	.	.	UPI000004970A	SNV	PMEPA1,synonymous_variant,p.%3D,ENST00000265626,;PMEPA1,synonymous_variant,p.%3D,ENST00000341744,;PMEPA1,synonymous_variant,p.%3D,ENST00000395816,;PMEPA1,synonymous_variant,p.%3D,ENST00000347215,;PMEPA1,synonymous_variant,p.%3D,ENST00000395814,;PMEPA1,downstream_gene_variant,,ENST00000395819,;PMEPA1,downstream_gene_variant,,ENST00000414037,;	1136	25	32	SUCCESS
TRMT2A	27037	.	GRCh37	22	20102931	20102931	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761732799	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	68	0	ENST00000252136.7:c.748G>A	p.Gly250Arg	p.G250R	ENST00000252136	NM_022727.5	250	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13774.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCGACGC	NONE	.	.	PROSITE_profiles:PS51687,hmmpanther:PTHR11061:SF24,hmmpanther:PTHR11061,Superfamily_domains:SSF53335	.	.	ENSP00000252136	.	4/12	.	.	.	.	.	.	.	.	rs761732799	4/12	PASS	ENST00000252136	Transcript	.	.	ENSG00000099899	24974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.684)	.	deleterious(0)	.	TRM2A_HUMAN	TRMT2A	HGNC	C9K041_HUMAN	.	UPI00001BBFC5	SNV	TRMT2A,missense_variant,p.Gly250Arg,ENST00000403707,;TRMT2A,missense_variant,p.Gly250Arg,ENST00000439169,;TRMT2A,missense_variant,p.Gly250Arg,ENST00000404751,;TRMT2A,missense_variant,p.Gly250Arg,ENST00000252136,;RANBP1,upstream_gene_variant,,ENST00000411892,;RANBP1,upstream_gene_variant,,ENST00000331821,;RANBP1,upstream_gene_variant,,ENST00000430524,;TRMT2A,downstream_gene_variant,,ENST00000445045,;DGCR8,downstream_gene_variant,,ENST00000351989,;RANBP1,upstream_gene_variant,,ENST00000421656,;TRMT2A,upstream_gene_variant,,ENST00000444256,;RANBP1,upstream_gene_variant,,ENST00000418705,;TRMT2A,upstream_gene_variant,,ENST00000444845,;RANBP1,upstream_gene_variant,,ENST00000432879,;RANBP1,upstream_gene_variant,,ENST00000402752,;DGCR8,downstream_gene_variant,,ENST00000383024,;RANBP1,upstream_gene_variant,,ENST00000423859,;DGCR8,downstream_gene_variant,,ENST00000407755,;RANBP1,upstream_gene_variant,,ENST00000416427,;AC006547.8,upstream_gene_variant,,ENST00000412713,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000480460,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000492988,;RANBP1,upstream_gene_variant,,ENST00000467920,;TRMT2A,upstream_gene_variant,,ENST00000488335,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000494820,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000468917,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000459644,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000471040,;TRMT2A,downstream_gene_variant,,ENST00000494641,;TRMT2A,downstream_gene_variant,,ENST00000464535,;TRMT2A,upstream_gene_variant,,ENST00000480339,;DGCR8,downstream_gene_variant,,ENST00000498171,;TRMT2A,upstream_gene_variant,,ENST00000463710,;TRMT2A,upstream_gene_variant,,ENST00000487378,;DGCR8,downstream_gene_variant,,ENST00000495826,;TRMT2A,upstream_gene_variant,,ENST00000487668,;RANBP1,upstream_gene_variant,,ENST00000488484,;RANBP1,upstream_gene_variant,,ENST00000435265,;DGCR8,downstream_gene_variant,,ENST00000475941,;	1137	68	52	SUCCESS
ELFN2	114794	.	GRCh37	22	37771020	37771020	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	38	166	0	ENST00000402918.2:c.555C>A	p.Asn185Lys	p.N185K	ENST00000402918	NM_052906.3	185	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS33642.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGGTTGCC	NONE	.	.	hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000385277	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000402918	Transcript	.	.	ENSG00000166897	29396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PPR29_HUMAN	ELFN2	HGNC	.	.	UPI000004E87D	SNV	ELFN2,missense_variant,p.Asn185Lys,ENST00000402918,;RP1-63G5.5,intron_variant,,ENST00000430883,;RP1-63G5.5,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000424973,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000451509,;	1341	166	107	SUCCESS
NOL12	79159	.	GRCh37	22	38082401	38082401	+	start_lost	Translation_Start_Site	SNP	T	T	A	rs748899728	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	59	0	ENST00000359114.4:c.2T>A	p.Met1?	p.M1?	ENST00000359114	NM_024313.2	1	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS13955.1	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTATGGGCC	NONE	.	.	hmmpanther:PTHR14577:SF0,hmmpanther:PTHR14577	.	.	ENSP00000352021	.	1/6	.	.	.	.	.	.	.	.	rs748899728	1/6	PASS	ENST00000359114	Transcript	.	.	ENSG00000100101	28585	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	NOL12_HUMAN	NOL12	HGNC	B4DGP7_HUMAN	.	UPI0000073B12	SNV	NOL12,start_lost,p.Met1?,ENST00000359114,;NOL12,intron_variant,,ENST00000493862,;NOL12,start_lost,p.Met1?,ENST00000438329,;NOL12,non_coding_transcript_exon_variant,,ENST00000474032,;NOL12,non_coding_transcript_exon_variant,,ENST00000468597,;NOL12,upstream_gene_variant,,ENST00000484650,;NOL12,upstream_gene_variant,,ENST00000455236,;	72	59	44	SUCCESS
MIEF1	54471	.	GRCh37	22	39909580	39909580	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	106	0	ENST00000325301.2:c.644G>T	p.Trp215Leu	p.W215L	ENST00000325301	NM_019008.4	215	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS13995.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGGTCAT	NONE	.	.	hmmpanther:PTHR16451:SF2,hmmpanther:PTHR16451,Pfam_domain:PF03281	.	.	ENSP00000327124	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000325301	Transcript	.	.	ENSG00000100335	25979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MID51_HUMAN	MIEF1	HGNC	B0QY94_HUMAN	.	UPI000006FEB4	SNV	MIEF1,missense_variant,p.Trp215Leu,ENST00000402881,;MIEF1,missense_variant,p.Trp215Leu,ENST00000404569,;MIEF1,missense_variant,p.Trp215Leu,ENST00000325301,;MIEF1,downstream_gene_variant,,ENST00000434364,;MIEF1,3_prime_UTR_variant,,ENST00000428069,;MIEF1,3_prime_UTR_variant,,ENST00000433117,;	1068	106	66	SUCCESS
CHADL	150356	.	GRCh37	22	41632548	41632548	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	146	0	ENST00000216241.9:c.2003A>T	p.Glu668Val	p.E668V	ENST00000216241	NM_138481.1	668	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46715.1	2003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCTCCAGC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF24,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000216241	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000216241	Transcript	.	.	ENSG00000100399	25165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.03)	.	CHADL_HUMAN	CHADL	HGNC	.	.	UPI00001C2057	SNV	CHADL,missense_variant,p.Glu165Val,ENST00000455425,;CHADL,missense_variant,p.Glu668Val,ENST00000216241,;CHADL,intron_variant,,ENST00000417999,;	2056	146	95	SUCCESS
NOL10	79954	.	GRCh37	2	10830090	10830090	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	43	0	ENST00000381685.5:c.-103G>T		p.*35*	ENST00000381685	NM_024894.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1673.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCGCTGGCG	NONE	.	.	.	.	.	ENSP00000371101	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000381685	Transcript	.	.	ENSG00000115761	25862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NOL10_HUMAN	NOL10	HGNC	F5H6G7_HUMAN	.	UPI000006F6E2	SNV	NOL10,5_prime_UTR_variant,,ENST00000381685,;NOL10,5_prime_UTR_variant,,ENST00000345985,;NOL10,5_prime_UTR_variant,,ENST00000538384,;NOL10,5_prime_UTR_variant,,ENST00000542668,;RN7SL832P,upstream_gene_variant,,ENST00000607781,;RN7SL832P,upstream_gene_variant,,ENST00000487171,;NOL10,non_coding_transcript_exon_variant,,ENST00000473087,;	4	43	34	SUCCESS
SULT1C4	27233	.	GRCh37	2	108999919	108999919	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	49	72	0	ENST00000272452.2:c.568A>T	p.Lys190Ter	p.K190*	ENST00000272452	NM_006588.2	190	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS2077.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCAAAGAC	NONE	.	.	hmmpanther:PTHR11783:SF51,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000272452	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000272452	Transcript	.	.	ENSG00000198075	11457	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST1C4_HUMAN	SULT1C4	HGNC	.	.	UPI000013D958	SNV	SULT1C4,stop_gained,p.Lys190Ter,ENST00000272452,;SULT1C4,stop_gained,p.Lys115Ter,ENST00000409309,;SULT1C4,downstream_gene_variant,,ENST00000494122,;	894	72	85	SUCCESS
DBI	1622	.	GRCh37	2	120124512	120124512	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	52	0	ENST00000355857.3:c.-116A>T		p.*39*	ENST00000355857	NM_001178043.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54391.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCAGGGTT	NONE	.	317	.	.	.	ENSP00000440698	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000542275	Transcript	.	.	ENSG00000155368	2690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACBP_HUMAN	DBI	HGNC	B8ZWD8_HUMAN	.	UPI00018E1AD6	SNV	DBI,5_prime_UTR_variant,,ENST00000355857,;C2orf76,upstream_gene_variant,,ENST00000409523,;DBI,upstream_gene_variant,,ENST00000542275,;DBI,upstream_gene_variant,,ENST00000311521,;DBI,upstream_gene_variant,,ENST00000393103,;DBI,upstream_gene_variant,,ENST00000535617,;C2orf76,upstream_gene_variant,,ENST00000409877,;C2orf76,upstream_gene_variant,,ENST00000414534,;C2orf76,upstream_gene_variant,,ENST00000334816,;DBI,upstream_gene_variant,,ENST00000409094,;DBI,upstream_gene_variant,,ENST00000535757,;C2orf76,upstream_gene_variant,,ENST00000409466,;DBI,upstream_gene_variant,,ENST00000460901,;C2orf76,upstream_gene_variant,,ENST00000498049,;DBI,non_coding_transcript_exon_variant,,ENST00000492375,;DBI,upstream_gene_variant,,ENST00000475783,;	.	52	48	SUCCESS
NEB	4703	.	GRCh37	2	152539201	152539201	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	72	0	ENST00000172853.10:c.2918A>T	p.Lys973Met	p.K973M	ENST00000172853		973	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS54407.1	2918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTTTGCC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	29/182	.	.	.	.	.	.	.	.	.	29/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Lys973Met,ENST00000603639,;NEB,missense_variant,p.Lys973Met,ENST00000172853,;NEB,missense_variant,p.Lys973Met,ENST00000427231,;NEB,missense_variant,p.Lys973Met,ENST00000397345,;NEB,missense_variant,p.Lys973Met,ENST00000604864,;NEB,missense_variant,p.Lys973Met,ENST00000409198,;	3121	72	103	SUCCESS
TBR1	10716	.	GRCh37	2	162279937	162279937	+	synonymous_variant	Silent	SNP	C	C	A	rs750602067	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	157	1	ENST00000389554.3:c.1248C>A	p.Arg416=	p.R416=	ENST00000389554	NM_006593.2	416	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33310.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGCTCGCA	NONE	.	.	hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267	.	.	ENSP00000374205	.	6/6	.	.	.	.	.	.	.	.	rs750602067	6/6	PASS	ENST00000389554	Transcript	.	.	ENSG00000136535	11590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBR1_HUMAN	TBR1	HGNC	Q56A81_HUMAN,B0AZS4_HUMAN	.	UPI0000136A99	SNV	TBR1,synonymous_variant,p.%3D,ENST00000389554,;TBR1,synonymous_variant,p.%3D,ENST00000411412,;TBR1,synonymous_variant,p.%3D,ENST00000410035,;AC009487.4,non_coding_transcript_exon_variant,,ENST00000437683,;AC009487.5,upstream_gene_variant,,ENST00000505579,;AC009487.4,upstream_gene_variant,,ENST00000444164,;TBR1,non_coding_transcript_exon_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000606386,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;	1565	158	83	SUCCESS
IFIH1	64135	.	GRCh37	2	163124064	163124064	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	39	0	ENST00000263642.2:c.2823A>G	p.Val941=	p.V941=	ENST00000263642	NM_022168.3	941	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2217.1	2823	RADIA|MUTECT|MUSE	.	TCTCTTACAAT	NONE	.	.	Pfam_domain:PF11648,hmmpanther:PTHR14074:SF14,hmmpanther:PTHR14074	.	.	ENSP00000263642	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000263642	Transcript	.	.	ENSG00000115267	18873	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFIH1_HUMAN	IFIH1	HGNC	Q53TP4_HUMAN,Q53TB6_HUMAN	.	UPI000013D436	SNV	IFIH1,synonymous_variant,p.%3D,ENST00000263642,;	3219	39	33	SUCCESS
TMEFF2	23671	.	GRCh37	2	193059223	193059223	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs756271756	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	50	118	1	ENST00000272771.5:c.28T>A	p.Cys10Ser	p.C10S	ENST00000272771	NM_016192.2	10	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS2314.1	28	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACTGCC	NONE	byFrequency	.	hmmpanther:PTHR10574	.	.	ENSP00000272771	.	1/10	.	.	.	.	.	.	.	.	rs756271756,COSM1752211,COSM1752212	1/10	PASS	ENST00000272771	Transcript	.	.	ENSG00000144339	11867	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0)	.	tolerated_low_confidence(0.54)	0,1,1	TEFF2_HUMAN	TMEFF2	HGNC	.	.	UPI0000048F19	SNV	TMEFF2,missense_variant,p.Cys10Ser,ENST00000409056,;TMEFF2,missense_variant,p.Cys10Ser,ENST00000272771,;TMEFF2,missense_variant,p.Cys10Ser,ENST00000392314,;	1213	119	132	SUCCESS
RFTN2	130132	.	GRCh37	2	198508920	198508920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	65	95	0	ENST00000295049.4:c.400G>A	p.Ala134Thr	p.A134T	ENST00000295049	NM_144629.2	134	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2323.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGCCTCAG	NONE	.	.	hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250	.	.	ENSP00000295049	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000295049	Transcript	.	.	ENSG00000162944	26402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	RFTN2_HUMAN	RFTN2	HGNC	C9J6C2_HUMAN	.	UPI000013E1F9	SNV	RFTN2,missense_variant,p.Ala134Thr,ENST00000295049,;RFTN2,downstream_gene_variant,,ENST00000429081,;	937	95	116	SUCCESS
ERBB4	2066	.	GRCh37	2	212812232	212812232	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	54	89	0	ENST00000342788.4:c.344A>T	p.Tyr115Phe	p.Y115F	ENST00000342788	NM_005235.2	115	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS2394.1	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATATCGA	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF01030,Gene3D:3.80.20.20,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058	.	.	ENSP00000342235	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.25)	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Tyr115Phe,ENST00000402597,;ERBB4,missense_variant,p.Tyr115Phe,ENST00000436443,;ERBB4,missense_variant,p.Tyr56Phe,ENST00000435846,;ERBB4,missense_variant,p.Tyr115Phe,ENST00000260943,;ERBB4,missense_variant,p.Tyr115Phe,ENST00000342788,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484474,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	655	89	88	SUCCESS
COL6A3	1293	.	GRCh37	2	238275833	238275833	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	70	125	2	ENST00000295550.4:c.4997T>A	p.Val1666Glu	p.V1666E	ENST00000295550	NM_004369.3	1666	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS33412.1	4997	RADIA|SOMATICSNIPER|VARSCANS	.	TGTCCACTATT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	11/44	.	.	.	.	.	.	.	.	.	11/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Val1059Glu,ENST00000472056,;COL6A3,missense_variant,p.Val1460Glu,ENST00000409809,;COL6A3,missense_variant,p.Val1666Glu,ENST00000295550,;COL6A3,missense_variant,p.Val1465Glu,ENST00000347401,;COL6A3,missense_variant,p.Val1466Glu,ENST00000346358,;COL6A3,missense_variant,p.Val1460Glu,ENST00000353578,;COL6A3,downstream_gene_variant,,ENST00000392003,;COL6A3,downstream_gene_variant,,ENST00000392004,;	5450	127	112	SUCCESS
SEPT2	0	.	GRCh37	2	242283230	242283230	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	42	114	0	ENST00000391973.2:c.760A>T	p.Arg254Ter	p.R254*	ENST00000391973	NM_006155.1	254	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS2548.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCAGAGGC	NONE	.	.	PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF67,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540	.	.	ENSP00000375834	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000391973	Transcript	.	.	ENSG00000168385	7729	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPT2_HUMAN	SEPT2	HGNC	C9JZI2_HUMAN,C9JT15_HUMAN,C9JSE7_HUMAN,C9JG93_HUMAN,C9JFT1_HUMAN,C9JB25_HUMAN,C9J938_HUMAN,C9J2Q4_HUMAN,C9IZU3_HUMAN,C9IY94_HUMAN,B5MCX3_HUMAN	.	UPI000013585A	SNV	SEPT2,stop_gained,p.Arg254Ter,ENST00000391973,;SEPT2,stop_gained,p.Arg254Ter,ENST00000360051,;SEPT2,stop_gained,p.Arg214Ter,ENST00000407971,;SEPT2,stop_gained,p.Arg254Ter,ENST00000391971,;SEPT2,stop_gained,p.Arg264Ter,ENST00000401990,;SEPT2,stop_gained,p.Arg254Ter,ENST00000402092,;SEPT2,stop_gained,p.Arg109Ter,ENST00000421717,;SEPT2,downstream_gene_variant,,ENST00000428282,;SEPT2,downstream_gene_variant,,ENST00000466211,;SEPT2,downstream_gene_variant,,ENST00000494824,;SEPT2,downstream_gene_variant,,ENST00000464128,;SEPT2,non_coding_transcript_exon_variant,,ENST00000481500,;SEPT2,non_coding_transcript_exon_variant,,ENST00000484167,;	1288	114	148	SUCCESS
ITSN2	50618	.	GRCh37	2	24438936	24438936	+	synonymous_variant	Silent	SNP	A	A	G	rs1188731987	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	57	0	ENST00000355123.4:c.3972T>C	p.Asp1324=	p.D1324=	ENST00000355123	NM_006277.2	1324	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS1710.2	3972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAATCTGT	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,PROSITE_profiles:PS50010	.	.	ENSP00000347244	.	32/40	.	.	.	.	.	.	.	.	.	32/40	PASS	ENST00000355123	Transcript	.	.	ENSG00000198399	6184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITSN2_HUMAN	ITSN2	HGNC	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN	.	UPI000013D415	SNV	ITSN2,synonymous_variant,p.%3D,ENST00000355123,;ITSN2,synonymous_variant,p.%3D,ENST00000361999,;ITSN2,downstream_gene_variant,,ENST00000406921,;AC009228.1,intron_variant,,ENST00000413989,;AC009228.1,intron_variant,,ENST00000430105,;AC009228.1,intron_variant,,ENST00000413254,;	4416	57	81	SUCCESS
ADCY3	109	.	GRCh37	2	25141705	25141705	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	38	139	0	ENST00000260600.5:c.152G>T	p.Arg51Leu	p.R51L	ENST00000260600	NM_004036.3	51	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS1715.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCGAGGC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	.	.	ENSP00000260600	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000260600	Transcript	.	.	ENSG00000138031	234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.06)	.	ADCY3_HUMAN	ADCY3	HGNC	Q8NBM1_HUMAN,C9J969_HUMAN	.	UPI000013D0ED	SNV	ADCY3,missense_variant,p.Arg51Leu,ENST00000438445,;ADCY3,missense_variant,p.Arg51Leu,ENST00000260600,;ADCY3,missense_variant,p.Arg51Leu,ENST00000435135,;	1004	140	128	SUCCESS
DTNB	1838	.	GRCh37	2	25705696	25705696	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs981185581	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	70	85	0	ENST00000406818.3:c.1048A>G	p.Met350Val	p.M350V	ENST00000406818	NM_001256303.1	350	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS46237.1	1048	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACATGTGGC	NONE	.	.	hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204	.	.	ENSP00000384084	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000406818	Transcript	.	.	ENSG00000138101	3058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.52)	.	DTNB_HUMAN	DTNB	HGNC	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN	.	UPI0000129949	SNV	DTNB,missense_variant,p.Met293Val,ENST00000496972,;DTNB,missense_variant,p.Met350Val,ENST00000407186,;DTNB,missense_variant,p.Met350Val,ENST00000406818,;DTNB,missense_variant,p.Met350Val,ENST00000405222,;DTNB,missense_variant,p.Met350Val,ENST00000404103,;DTNB,missense_variant,p.Met350Val,ENST00000407661,;DTNB,missense_variant,p.Met350Val,ENST00000288642,;DTNB,missense_variant,p.Met350Val,ENST00000407038,;DTNB,missense_variant,p.Met146Val,ENST00000545439,;DTNB,non_coding_transcript_exon_variant,,ENST00000481841,;DTNB,non_coding_transcript_exon_variant,,ENST00000486555,;DTNB,non_coding_transcript_exon_variant,,ENST00000489756,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,3_prime_UTR_variant,,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,upstream_gene_variant,,ENST00000482145,;DTNB,upstream_gene_variant,,ENST00000479898,;	1298	85	103	SUCCESS
XDH	7498	.	GRCh37	2	31571159	31571159	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	109	189	1	ENST00000379416.3:c.3122A>T	p.Gln1041Leu	p.Q1041L	ENST00000379416	NM_000379.3	1041	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1775.1	3122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTTGGCCC	NONE	.	.	Superfamily_domains:SSF56003,PIRSF_domain:PIRSF000127,Pfam_domain:PF02738,Gene3D:3.30.365.10,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908	.	.	ENSP00000368727	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000379416	Transcript	.	.	ENSG00000158125	12805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious(0.02)	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,missense_variant,p.Gln1041Leu,ENST00000379416,;	3171	190	167	SUCCESS
CEBPZ	10153	.	GRCh37	2	37458806	37458806	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs770876584	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	68	0	ENST00000234170.5:c.-96T>A		p.*32*	ENST00000234170	NM_005760.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1787.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTAAGCCCC	NONE	.	.	.	.	.	ENSP00000234170	.	1/16	.	.	.	.	.	.	.	.	rs770876584	1/16	PASS	ENST00000234170	Transcript	.	.	ENSG00000115816	24218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEBPZ_HUMAN	CEBPZ	HGNC	.	.	UPI0000072AAB	SNV	CEBPZ,5_prime_UTR_variant,,ENST00000234170,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000002125,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;CEBPZ,upstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;NDUFAF7,upstream_gene_variant,,ENST00000336237,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,5_prime_UTR_variant,,ENST00000455230,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;	51	68	68	SUCCESS
SLC8A1	6546	.	GRCh37	2	40655701	40655701	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	52	102	1	ENST00000332839.4:c.1720T>C	p.Tyr574His	p.Y574H	ENST00000332839	NM_021097.2	574	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS1806.1	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATATGGAA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Tyr574His,ENST00000408028,;SLC8A1,missense_variant,p.Tyr574His,ENST00000406785,;SLC8A1,missense_variant,p.Tyr574His,ENST00000542024,;SLC8A1,missense_variant,p.Tyr574His,ENST00000403092,;SLC8A1,missense_variant,p.Tyr574His,ENST00000405269,;SLC8A1,missense_variant,p.Tyr574His,ENST00000332839,;SLC8A1,missense_variant,p.Tyr574His,ENST00000542756,;SLC8A1,missense_variant,p.Tyr574His,ENST00000406391,;SLC8A1,missense_variant,p.Tyr574His,ENST00000405901,;SLC8A1,missense_variant,p.Tyr574His,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,missense_variant,p.Tyr571His,ENST00000407929,;	1754	103	91	SUCCESS
ALMS1	7840	.	GRCh37	2	73678026	73678026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	70	83	0	ENST00000264448.6:c.4369G>T	p.Ala1457Ser	p.A1457S	ENST00000264448	NM_015120.4	1457	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42697.1	4369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGCTCCT	NONE	.	.	.	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Ala1457Ser,ENST00000377715,;ALMS1,missense_variant,p.Ala1415Ser,ENST00000409009,;ALMS1,missense_variant,p.Ala1457Ser,ENST00000264448,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;	4480	83	112	SUCCESS
DPPA4	55211	.	GRCh37	3	109049318	109049318	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	35	0	ENST00000335658.6:c.679+53A>T		p.*227*	ENST00000335658	NM_018189.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33814.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCTACTAA	NONE	.	.	.	.	.	ENSP00000335306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335658	Transcript	.	.	ENSG00000121570	19200	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPPA4_HUMAN	DPPA4	HGNC	C9J7A7_HUMAN	.	UPI000022C153	SNV	DPPA4,intron_variant,,ENST00000335658,;DPPA4,downstream_gene_variant,,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000478791,;DPPA4,intron_variant,,ENST00000463966,;DPPA4,non_coding_transcript_exon_variant,,ENST00000475135,;DPPA4,intron_variant,,ENST00000487299,;DPPA4,intron_variant,,ENST00000495679,;DPPA4,downstream_gene_variant,,ENST00000489281,;	.	35	43	SUCCESS
MAATS1	0	.	GRCh37	3	119462964	119462964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1007945476	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	113	0	ENST00000273390.5:c.1823G>A	p.Arg608Gln	p.R608Q	ENST00000273390	NM_033364.3	608	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS2994.1	1823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGGGTAC	CODON|p.R608W|c.1822C>T|5	.	.	hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455,Low_complexity_(Seg):seg	.	.	ENSP00000273390	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000273390	Transcript	.	.	ENSG00000183833	24010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	MAAT1_HUMAN	MAATS1	HGNC	.	.	UPI00001C1DFE	SNV	MAATS1,missense_variant,p.Arg608Gln,ENST00000273390,;RP11-169N13.4,downstream_gene_variant,,ENST00000489428,;MAATS1,upstream_gene_variant,,ENST00000470948,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,3_prime_UTR_variant,,ENST00000482573,;MAATS1,3_prime_UTR_variant,,ENST00000475093,;MAATS1,downstream_gene_variant,,ENST00000468630,;MAATS1,downstream_gene_variant,,ENST00000461322,;MAATS1,downstream_gene_variant,,ENST00000483134,;	1900	113	117	SUCCESS
FBLN2	2199	.	GRCh37	3	13670761	13670765	+	frameshift_variant	Frame_Shift_Del	DEL	TCAGC	TCAGC	CCA	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	TCAGC	TCAGC	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	97	0	ENST00000295760.7:c.2670_2674delinsCCA	p.Arg892GlyfsTer12	p.R892Gfs*12	ENST00000295760	NM_001998.2	890	ttTCAGCgg/ttCCAgg	0	.	.	.	.	.	CCA	FQR/FQX	protein_coding	YES	CCDS46761.1	2811-2815	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CGGCTTTCAGCGGGAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72,PROSITE_patterns:PS01186,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000384169	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	substitution	FBLN2,frameshift_variant,p.Arg892GlyfsTer12,ENST00000295760,;FBLN2,frameshift_variant,p.Arg939GlyfsTer12,ENST00000492059,;FBLN2,frameshift_variant,p.Arg939GlyfsTer12,ENST00000404922,;FBLN2,frameshift_variant,p.Arg918GlyfsTer12,ENST00000535798,;FBLN2,upstream_gene_variant,,ENST00000295761,;	2930-2934	97	73	SUCCESS
PCOLCE2	26577	.	GRCh37	3	142542413	142542413	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	92	1	ENST00000295992.3:c.910A>G	p.Thr304Ala	p.T304A	ENST00000295992	NM_013363.3	304	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3127.1	910	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CCCCGTCCGTC	NONE	.	.	PROSITE_profiles:PS50189,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF40,Gene3D:2.40.50.120,Superfamily_domains:SSF50242	.	.	ENSP00000295992	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000295992	Transcript	.	.	ENSG00000163710	8739	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.12)	.	PCOC2_HUMAN	PCOLCE2	HGNC	H7C5D5_HUMAN	.	UPI0000073F93	SNV	PCOLCE2,missense_variant,p.Thr304Ala,ENST00000295992,;PCOLCE2,intron_variant,,ENST00000485766,;PCOLCE2,missense_variant,p.Thr29Ala,ENST00000470310,;PCOLCE2,3_prime_UTR_variant,,ENST00000480473,;PCOLCE2,non_coding_transcript_exon_variant,,ENST00000470795,;RP11-372E1.1,downstream_gene_variant,,ENST00000489462,;	1217	93	84	SUCCESS
B3GALNT1	8706	.	GRCh37	3	160803895	160803895	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	26	0	ENST00000320474.4:c.648A>T	p.Arg216Ser	p.R216S	ENST00000320474	NM_003781.3	216	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3193.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTCTATA	NONE	.	.	Pfam_domain:PF01762,hmmpanther:PTHR11214:SF17,hmmpanther:PTHR11214	.	.	ENSP00000376532	.	8/8	.	.	.	.	.	.	.	.	BGMUT_556	8/8	PASS	ENST00000392781	Transcript	.	.	ENSG00000169255	918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	B3GL1_HUMAN	B3GALNT1	HGNC	R4X604_HUMAN,Q8TDY1_HUMAN,Q8NHI0_HUMAN,Q6RC01_HUMAN,Q6RBZ9_HUMAN,E7EVS2_HUMAN,C9JXR0_HUMAN,C9JRV6_HUMAN,C9JD16_HUMAN,C9J8U7_HUMAN,C9J0F8_HUMAN	.	UPI000000DC24	SNV	B3GALNT1,missense_variant,p.Arg216Ser,ENST00000392779,;B3GALNT1,missense_variant,p.Arg216Ser,ENST00000392780,;B3GALNT1,missense_variant,p.Arg216Ser,ENST00000473285,;B3GALNT1,missense_variant,p.Arg216Ser,ENST00000320474,;B3GALNT1,missense_variant,p.Arg216Ser,ENST00000488170,;B3GALNT1,missense_variant,p.Arg216Ser,ENST00000392781,;B3GALNT1,intron_variant,,ENST00000417187,;B3GALNT1,downstream_gene_variant,,ENST00000460353,;B3GALNT1,downstream_gene_variant,,ENST00000492353,;B3GALNT1,downstream_gene_variant,,ENST00000473142,;B3GALNT1,downstream_gene_variant,,ENST00000498216,;B3GALNT1,downstream_gene_variant,,ENST00000484127,;B3GALNT1,downstream_gene_variant,,ENST00000468268,;B3GALNT1,downstream_gene_variant,,ENST00000494173,;B3GALNT1,downstream_gene_variant,,ENST00000496295,;B3GALNT1,downstream_gene_variant,,ENST00000478383,;B3GALNT1,downstream_gene_variant,,ENST00000476999,;	1396	26	24	SUCCESS
ZBBX	79740	.	GRCh37	3	166960387	166960387	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752921130	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	26	0	ENST00000392766.2:c.2182G>A	p.Asp728Asn	p.D728N	ENST00000392766	NM_001199201.1	728	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS56296.1	2299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCTGGGA	NONE	byFrequency	.	.	.	.	ENSP00000390232	.	20/21	.	.	.	.	.	.	.	.	rs752921130,COSM1233102,COSM1233103	20/21	PASS	ENST00000455345	Transcript	.	.	ENSG00000169064	26245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.137)	.	deleterious(0)	0,1,1	ZBBX_HUMAN	ZBBX	HGNC	C9JVV2_HUMAN	.	UPI000020A746	SNV	ZBBX,missense_variant,p.Asp767Asn,ENST00000455345,;ZBBX,missense_variant,p.Asp728Asn,ENST00000392767,;ZBBX,missense_variant,p.Asp728Asn,ENST00000392766,;ZBBX,missense_variant,p.Asp767Asn,ENST00000307529,;ZBBX,missense_variant,p.Asp699Asn,ENST00000392764,;ZBBX,3_prime_UTR_variant,,ENST00000494898,;ZBBX,3_prime_UTR_variant,,ENST00000492642,;ZBBX,3_prime_UTR_variant,,ENST00000464922,;ZBBX,non_coding_transcript_exon_variant,,ENST00000465071,;	2583	26	43	SUCCESS
VWA5B2	90113	.	GRCh37	3	183957516	183957516	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	98	1	ENST00000426955.2:c.2432T>A	p.Leu811Gln	p.L811Q	ENST00000426955	NM_138345.1	811	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS54686.1	2432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGATGG	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Leu593Gln,ENST00000273794,;VWA5B2,missense_variant,p.Leu811Gln,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,upstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;ALG3,downstream_gene_variant,,ENST00000411922,;VWA5B2,downstream_gene_variant,,ENST00000474580,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000462735,;VWA5B2,downstream_gene_variant,,ENST00000497229,;ALG3,downstream_gene_variant,,ENST00000414845,;	2532	99	94	SUCCESS
EIF4G1	1981	.	GRCh37	3	184039550	184039550	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs756637859	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	88	180	0	ENST00000346169.2:c.1178C>G	p.Pro393Arg	p.P393R	ENST00000346169	NM_198241.2	393	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS54687.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCCCATTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10	.	.	ENSP00000416255	.	9/32	.	.	.	.	.	.	.	.	rs756637859	9/32	PASS	ENST00000424196	Transcript	.	.	ENSG00000114867	3296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.06)	.	IF4G1_HUMAN	EIF4G1	HGNC	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN	.	UPI00015E0966	SNV	EIF4G1,missense_variant,p.Pro353Arg,ENST00000411531,;EIF4G1,missense_variant,p.Pro306Arg,ENST00000392537,;EIF4G1,missense_variant,p.Pro393Arg,ENST00000346169,;EIF4G1,missense_variant,p.Pro393Arg,ENST00000319274,;EIF4G1,missense_variant,p.Pro393Arg,ENST00000450424,;EIF4G1,missense_variant,p.Pro353Arg,ENST00000414031,;EIF4G1,missense_variant,p.Pro400Arg,ENST00000352767,;EIF4G1,missense_variant,p.Pro400Arg,ENST00000424196,;EIF4G1,missense_variant,p.Pro197Arg,ENST00000434061,;EIF4G1,missense_variant,p.Pro229Arg,ENST00000444861,;EIF4G1,missense_variant,p.Pro306Arg,ENST00000427845,;EIF4G1,missense_variant,p.Pro400Arg,ENST00000382330,;EIF4G1,missense_variant,p.Pro334Arg,ENST00000426123,;EIF4G1,missense_variant,p.Pro197Arg,ENST00000457456,;EIF4G1,missense_variant,p.Pro197Arg,ENST00000435046,;EIF4G1,missense_variant,p.Pro229Arg,ENST00000350481,;EIF4G1,missense_variant,p.Pro229Arg,ENST00000441154,;EIF4G1,missense_variant,p.Pro393Arg,ENST00000342981,;EIF4G1,missense_variant,p.Pro400Arg,ENST00000421110,;EIF2B5,intron_variant,,ENST00000444495,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,downstream_gene_variant,,ENST00000455679,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000428387,;EIF4G1,downstream_gene_variant,,ENST00000427141,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,downstream_gene_variant,,ENST00000493299,;EIF4G1,upstream_gene_variant,,ENST00000466311,;	1588	180	144	SUCCESS
MUC4	4585	.	GRCh37	3	195513058	195513058	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1395843128	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1339	316	1666	0	ENST00000463781.3:c.5393T>A	p.Val1798Asp	p.V1798D	ENST00000463781	NM_018406.6	1798	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS54700.1	5393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAACGTCG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Val1798Asp,ENST00000475231,;MUC4,missense_variant,p.Val1798Asp,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Val1798Asp,ENST00000477086,;MUC4,missense_variant,p.Val1798Asp,ENST00000466475,;MUC4,missense_variant,p.Val1798Asp,ENST00000478156,;MUC4,missense_variant,p.Val1798Asp,ENST00000470451,;MUC4,missense_variant,p.Val1798Asp,ENST00000479406,;MUC4,missense_variant,p.Val1798Asp,ENST00000477756,;MUC4,missense_variant,p.Val1798Asp,ENST00000462323,;MUC4,missense_variant,p.Val1798Asp,ENST00000480843,;	5853	1667	1656	SUCCESS
ITGA9	3680	.	GRCh37	3	37860441	37860441	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	43	163	1	ENST00000264741.5:c.3069G>C	p.Glu1023Asp	p.E1023D	ENST00000264741	NM_002207.2	1023	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS2669.1	3069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAGAATGA	BUFFER|p.E1025E|c.3075A>G|3	.	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220	.	.	ENSP00000264741	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.37)	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,missense_variant,p.Glu1023Asp,ENST00000264741,;ITGA9,missense_variant,p.Glu57Asp,ENST00000411817,;AC093415.2,intron_variant,,ENST00000457661,;AC093415.2,intron_variant,,ENST00000445429,;AC093415.2,intron_variant,,ENST00000430620,;AC093415.2,intron_variant,,ENST00000420870,;AC093415.2,intron_variant,,ENST00000438136,;AC093415.2,intron_variant,,ENST00000450990,;AC093415.2,intron_variant,,ENST00000366441,;AC093415.2,intron_variant,,ENST00000608505,;AC093415.2,intron_variant,,ENST00000429532,;AC093415.2,downstream_gene_variant,,ENST00000594579,;AC093415.2,intron_variant,,ENST00000439246,;	3325	165	145	SUCCESS
CHL1	10752	.	GRCh37	3	383657	383657	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752378415	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	163	208	0	ENST00000397491.2:c.571G>T	p.Ala191Ser	p.A191S	ENST00000397491		191	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS2556.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCGCAAAC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256509	.	7/28	.	.	.	.	.	.	.	.	rs752378415,COSM3696059	7/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	tolerated(0.93)	0,1	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Ala191Ser,ENST00000397491,;CHL1,missense_variant,p.Ala191Ser,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000435603,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	1213	208	316	SUCCESS
SCN11A	11280	.	GRCh37	3	38951586	38951586	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs767108466	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	20	55	0	ENST00000302328.3:c.1072del	p.Gln358LysfsTer34	p.Q358Kfs*34	ENST00000302328	NM_014139.2	358	Caa/aa	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS33737.1	1072	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCTTGGGTCA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000307599	.	8/26	.	.	.	.	.	.	.	.	rs767108466	8/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	deletion	SCN11A,frameshift_variant,p.Gln358LysfsTer34,ENST00000450244,;SCN11A,frameshift_variant,p.Gln358LysfsTer34,ENST00000302328,;SCN11A,frameshift_variant,p.Gln358LysfsTer34,ENST00000444237,;SCN11A,frameshift_variant,p.Gln358LysfsTer34,ENST00000456224,;AC116038.1,downstream_gene_variant,,ENST00000401122,;	1271	55	109	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913400	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	123	0	ENST00000349496.5:c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000349496	NM_001904.3	33	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33Y|c.98C>A|73,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33C|c.98C>G|191,CODON|p.S33F|c.98C>T|110,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.64)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	123	134	SUCCESS
KIF15	56992	.	GRCh37	3	44879894	44879894	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	77	139	0	ENST00000326047.4:c.3299T>A	p.Ile1100Asn	p.I1100N	ENST00000326047	NM_020242.2	1100	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS33744.1	3299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGATTCAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115	.	.	ENSP00000324020	.	27/35	.	.	.	.	.	.	.	.	.	27/35	PASS	ENST00000326047	Transcript	.	.	ENSG00000163808	17273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.04)	.	KIF15_HUMAN	KIF15	HGNC	D6RCT7_HUMAN	.	UPI000006DB0E	SNV	KIF15,missense_variant,p.Ile735Asn,ENST00000425755,;KIF15,missense_variant,p.Ile1100Asn,ENST00000326047,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,3_prime_UTR_variant,,ENST00000453693,;KIF15,upstream_gene_variant,,ENST00000422209,;	3448	139	135	SUCCESS
CCR1	1230	.	GRCh37	3	46244963	46244963	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	70	107	0	ENST00000296140.3:c.842T>A	p.Leu281Gln	p.L281Q	ENST00000296140	NM_001295.2	281	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2737.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAGGTCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF61,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00657	.	.	ENSP00000296140	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000296140	Transcript	.	.	ENSG00000163823	1602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	tolerated(0.42)	.	CCR1_HUMAN	CCR1	HGNC	Q5U003_HUMAN	.	UPI0000043584	SNV	CCR1,missense_variant,p.Leu281Gln,ENST00000296140,;CCR3,intron_variant,,ENST00000357422,;	968	107	120	SUCCESS
NME6	10201	.	GRCh37	3	48339972	48339972	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	94	0	ENST00000415053.1:c.35del	p.Gln12ArgfsTer4	p.Q12Rfs*4	ENST00000415053		12	cAg/cg	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS2763.1	59	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGAGCTGGAGA	NONE	.	.	hmmpanther:PTHR11349,Gene3D:3.30.70.141,SMART_domains:SM00562,Superfamily_domains:SSF54919	.	.	ENSP00000416658	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000421967	Transcript	.	.	ENSG00000172113	20567	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDK6_HUMAN	NME6	HGNC	C9JQB1_HUMAN,C9J9V6_HUMAN,C9J1J2_HUMAN	.	UPI000015C21F	deletion	NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000450160,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000442597,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000426723,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000456495,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000435684,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000452211,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000451657,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000415053,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000426689,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000415644,;NME6,frameshift_variant,p.Gln20ArgfsTer4,ENST00000421967,;NME6,frameshift_variant,p.Gln19ArgfsTer4,ENST00000447724,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000425930,;ZNF589,intron_variant,,ENST00000412564,;NME6,intron_variant,,ENST00000447314,;NME6,intron_variant,,ENST00000444069,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000454531,;NME6,frameshift_variant,p.Gln12ArgfsTer4,ENST00000418431,;NME6,non_coding_transcript_exon_variant,,ENST00000302378,;NME6,non_coding_transcript_exon_variant,,ENST00000495734,;NME6,non_coding_transcript_exon_variant,,ENST00000484959,;NME6,non_coding_transcript_exon_variant,,ENST00000494209,;	105	94	113	SUCCESS
PLXNB1	5364	.	GRCh37	3	48457128	48457128	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	109	0	ENST00000296440.6:c.3658A>T	p.Ser1220Cys	p.S1220C	ENST00000296440	NM_001130082.1	1220	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2765.1	3658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGGTCT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000351338	.	19/38	.	.	.	.	.	.	.	.	.	19/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0.05)	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,missense_variant,p.Ser1220Cys,ENST00000358536,;PLXNB1,missense_variant,p.Ser1220Cys,ENST00000296440,;PLXNB1,missense_variant,p.Ser1037Cys,ENST00000358459,;PLXNB1,missense_variant,p.Ser1037Cys,ENST00000456774,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,downstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000465117,;PLXNB1,downstream_gene_variant,,ENST00000466353,;PLXNB1,3_prime_UTR_variant,,ENST00000449094,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000485535,;PLXNB1,upstream_gene_variant,,ENST00000461261,;PLXNB1,upstream_gene_variant,,ENST00000467913,;PLXNB1,upstream_gene_variant,,ENST00000470525,;PLXNB1,upstream_gene_variant,,ENST00000473996,;PLXNB1,downstream_gene_variant,,ENST00000462738,;	3928	110	96	SUCCESS
P4HTM	54681	.	GRCh37	3	49042389	49042389	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	52	108	0	ENST00000383729.4:c.983A>T	p.His328Leu	p.H328L	ENST00000383729	NM_177939.2	328	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS2781.2	983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCACGTGG	NONE	.	.	PROSITE_profiles:PS51471,hmmpanther:PTHR10869,SMART_domains:SM00702	.	.	ENSP00000341422	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000343546	Transcript	.	.	ENSG00000178467	28858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0)	.	P4HTM_HUMAN	P4HTM	HGNC	.	.	UPI0000209C68	SNV	P4HTM,missense_variant,p.His328Leu,ENST00000383729,;P4HTM,missense_variant,p.His328Leu,ENST00000343546,;P4HTM,intron_variant,,ENST00000491739,;WDR6,upstream_gene_variant,,ENST00000491365,;WDR6,upstream_gene_variant,,ENST00000419837,;WDR6,upstream_gene_variant,,ENST00000395474,;WDR6,upstream_gene_variant,,ENST00000608424,;P4HTM,downstream_gene_variant,,ENST00000472796,;WDR6,upstream_gene_variant,,ENST00000448293,;WDR6,upstream_gene_variant,,ENST00000415265,;WDR6,upstream_gene_variant,,ENST00000429900,;WDR6,upstream_gene_variant,,ENST00000489427,;WDR6,upstream_gene_variant,,ENST00000438660,;P4HTM,downstream_gene_variant,,ENST00000444213,;P4HTM,downstream_gene_variant,,ENST00000486817,;P4HTM,downstream_gene_variant,,ENST00000468374,;WDR6,upstream_gene_variant,,ENST00000489684,;WDR6,upstream_gene_variant,,ENST00000461687,;WDR6,upstream_gene_variant,,ENST00000472878,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;WDR6,upstream_gene_variant,,ENST00000452875,;WDR6,upstream_gene_variant,,ENST00000471162,;WDR6,upstream_gene_variant,,ENST00000488572,;WDR6,upstream_gene_variant,,ENST00000462064,;WDR6,upstream_gene_variant,,ENST00000473238,;WDR6,upstream_gene_variant,,ENST00000420783,;P4HTM,downstream_gene_variant,,ENST00000485210,;	1351	108	93	SUCCESS
ITIH4	3700	.	GRCh37	3	52848087	52848087	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs756836230	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	102	0	ENST00000266041.4:c.2627G>T	p.Gly876Val	p.G876V	ENST00000266041	NM_002218.4	876	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2865.1	2627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCCTGAG	NONE	.	.	hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338,Pfam_domain:PF06668	.	.	ENSP00000266041	.	23/24	.	.	.	.	.	.	.	.	rs756836230	23/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,missense_variant,p.Gly860Val,ENST00000346281,;ITIH4,missense_variant,p.Gly876Val,ENST00000266041,;ITIH4,missense_variant,p.Gly665Val,ENST00000441637,;ITIH4,missense_variant,p.Gly881Val,ENST00000485816,;ITIH4,missense_variant,p.Gly846Val,ENST00000406595,;ITIH4,splice_region_variant,,ENST00000491663,;RP5-966M1.6,splice_region_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000464000,;ITIH4,downstream_gene_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000537897,;ITIH4,downstream_gene_variant,,ENST00000461966,;	2724	102	91	SUCCESS
ITIH4	3700	.	GRCh37	3	52861120	52861120	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	73	141	1	ENST00000266041.4:c.345T>C	p.Ala115=	p.A115=	ENST00000266041	NM_002218.4	115	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS2865.1	345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGCGCT	NONE	.	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338,Pfam_domain:PF08487,SMART_domains:SM00609	.	.	ENSP00000266041	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,synonymous_variant,p.%3D,ENST00000346281,;ITIH4,synonymous_variant,p.%3D,ENST00000266041,;ITIH4,synonymous_variant,p.%3D,ENST00000434759,;ITIH4,synonymous_variant,p.%3D,ENST00000485816,;ITIH4,synonymous_variant,p.%3D,ENST00000406595,;ITIH4,upstream_gene_variant,,ENST00000441637,;ITIH4-AS1,downstream_gene_variant,,ENST00000478366,;ITIH4,upstream_gene_variant,,ENST00000484632,;RP5-966M1.6,downstream_gene_variant,,ENST00000513520,;ITIH4,upstream_gene_variant,,ENST00000467462,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,upstream_gene_variant,,ENST00000485894,;ITIH4,downstream_gene_variant,,ENST00000473904,;ITIH4,upstream_gene_variant,,ENST00000483372,;	442	142	157	SUCCESS
ROBO1	6091	.	GRCh37	3	78717373	78717373	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	32	103	1	ENST00000464233.1:c.1710A>T	p.Thr570=	p.T570=	ENST00000464233	NM_002941.3	570	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54611.1	1710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTGTCAC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000420321	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,synonymous_variant,p.%3D,ENST00000464233,;ROBO1,synonymous_variant,p.%3D,ENST00000495273,;ROBO1,synonymous_variant,p.%3D,ENST00000436010,;ROBO1,synonymous_variant,p.%3D,ENST00000495961,;ROBO1,synonymous_variant,p.%3D,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	1824	104	107	SUCCESS
LDB2	9079	.	GRCh37	4	16510279	16510279	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1277170300	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	48	91	0	ENST00000304523.5:c.770G>A	p.Arg257Gln	p.R257Q	ENST00000304523	NM_001290.3	257	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3420.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCGTTTG	NONE	.	.	hmmpanther:PTHR10378,hmmpanther:PTHR10378:SF8,Low_complexity_(Seg):seg	.	.	ENSP00000306772	.	7/8	.	.	.	.	.	.	.	.	COSM733202,COSM1149882	7/8	PASS	ENST00000304523	Transcript	.	.	ENSG00000169744	6533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.135)	.	deleterious(0.01)	1,1	LDB2_HUMAN	LDB2	HGNC	Q4W5E7_HUMAN,D6RAT1_HUMAN	.	UPI0000073D86	SNV	LDB2,missense_variant,p.Arg133Gln,ENST00000503178,;LDB2,missense_variant,p.Arg257Gln,ENST00000304523,;LDB2,missense_variant,p.Arg178Gln,ENST00000507464,;LDB2,missense_variant,p.Arg257Gln,ENST00000515064,;LDB2,missense_variant,p.Arg257Gln,ENST00000441778,;LDB2,missense_variant,p.Arg257Gln,ENST00000502640,;RP11-446J8.1,intron_variant,,ENST00000512370,;LDB2,downstream_gene_variant,,ENST00000503153,;LDB2,3_prime_UTR_variant,,ENST00000508918,;LDB2,upstream_gene_variant,,ENST00000509803,;LDB2,downstream_gene_variant,,ENST00000512345,;	1094	91	101	SUCCESS
NEIL3	55247	.	GRCh37	4	178231110	178231110	+	start_lost	Translation_Start_Site	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	12	237	0	ENST00000264596.3:c.3G>C	p.Met1?	p.M1?	ENST00000264596	NM_018248.2	1	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS3828.1	3	MUTECT|MUSE	.	GAGATGGTGGA	NONE	.	.	hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10	.	.	ENSP00000264596	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000264596	Transcript	.	.	ENSG00000109674	24573	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NEIL3_HUMAN	NEIL3	HGNC	.	.	UPI000013D53D	SNV	NEIL3,start_lost,p.Met1?,ENST00000264596,;NEIL3,start_lost,p.Met1?,ENST00000513321,;	121	237	221	SUCCESS
NEIL3	55247	.	GRCh37	4	178256896	178256896	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	67	95	0	ENST00000264596.3:c.333T>C	p.Tyr111=	p.Y111=	ENST00000264596	NM_018248.2	111	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS3828.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATAAAAA	NONE	.	.	PROSITE_profiles:PS51068,hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10,Superfamily_domains:SSF81624	.	.	ENSP00000264596	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000264596	Transcript	.	.	ENSG00000109674	24573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEIL3_HUMAN	NEIL3	HGNC	.	.	UPI000013D53D	SNV	NEIL3,synonymous_variant,p.%3D,ENST00000264596,;NEIL3,3_prime_UTR_variant,,ENST00000513321,;	451	95	78	SUCCESS
KCNIP4	80333	.	GRCh37	4	21950197	21950197	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1170830864	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	64	296	0	ENST00000382152.2:c.58G>A	p.Gly20Ser	p.G20S	ENST00000382152	NM_025221.5	20	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS43216.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCCTGTAG	NONE	.	.	.	.	.	ENSP00000371587	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000382152	Transcript	.	.	ENSG00000185774	30083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.4)	.	KCIP4_HUMAN	KCNIP4	HGNC	.	.	UPI000004A274	SNV	KCNIP4,missense_variant,p.Gly20Ser,ENST00000382152,;KCNIP4,missense_variant,p.Gly20Ser,ENST00000447367,;RP11-17E2.2,upstream_gene_variant,,ENST00000510705,;KCNIP4,missense_variant,p.Gly20Ser,ENST00000515786,;	226	296	299	SUCCESS
MXD4	10608	.	GRCh37	4	2252295	2252295	+	synonymous_variant	Silent	SNP	C	C	A	rs367639075	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	14	0	ENST00000337190.2:c.606G>T	p.Arg202=	p.R202=	ENST00000337190	NM_006454.2	202	cgG/cgT	0	T:0.0009	.	.	.	.	A	R	protein_coding	YES	CCDS3361.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCGCCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF4	.	T:0	ENSP00000337889	.	6/6	.	.	.	.	.	.	.	.	rs367639075	6/6	PASS	ENST00000337190	Transcript	.	.	ENSG00000123933	13906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAD4_HUMAN	MXD4	HGNC	D3DVQ5_HUMAN	.	UPI000012EB1A	SNV	MXD4,synonymous_variant,p.%3D,ENST00000337190,;MIR4800,upstream_gene_variant,,ENST00000537353,;MXD4,downstream_gene_variant,,ENST00000515378,;MXD4,non_coding_transcript_exon_variant,,ENST00000513372,;MXD4,downstream_gene_variant,,ENST00000513380,;MXD4,downstream_gene_variant,,ENST00000510822,;	920	14	16	SUCCESS
CCKAR	886	.	GRCh37	4	26491934	26491934	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	60	0	ENST00000295589.3:c.-45C>A		p.*15*	ENST00000295589	NM_000730.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3438.1	.	MUTECT|MUSE	.	GAATTGCTCAC	NONE	.	.	.	.	.	ENSP00000295589	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000295589	Transcript	.	.	ENSG00000163394	1570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCKAR_HUMAN	CCKAR	HGNC	.	.	UPI00000503F3	SNV	CCKAR,5_prime_UTR_variant,,ENST00000295589,;	151	60	61	SUCCESS
GRXCR1	389207	.	GRCh37	4	43032457	43032457	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	29	71	1	ENST00000399770.2:c.773T>A	p.Met258Lys	p.M258K	ENST00000399770	NM_001080476.2	258	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS43225.1	773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATGTCCA	BUFFER|p.R262*|c.784C>T|5	.	.	hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(1)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Met258Lys,ENST00000399770,;	773	72	106	SUCCESS
FRYL	285527	.	GRCh37	4	48529665	48529665	+	synonymous_variant	Silent	SNP	T	T	C	rs748361039	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	31	0	ENST00000358350.4:c.7146A>G	p.Val2382=	p.V2382=	ENST00000358350	NM_015030.1	2382	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS43227.1	7146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATACAAC	NONE	.	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	53/64	.	.	.	.	.	.	.	.	rs748361039	53/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,synonymous_variant,p.%3D,ENST00000514617,;FRYL,synonymous_variant,p.%3D,ENST00000358350,;FRYL,synonymous_variant,p.%3D,ENST00000503238,;FRYL,synonymous_variant,p.%3D,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000512297,;FRYL,non_coding_transcript_exon_variant,,ENST00000513401,;	7751	31	44	SUCCESS
KIT	3815	.	GRCh37	4	55593652	55593652	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	69	82	0	ENST00000288135.5:c.1718C>A	p.Pro573Gln	p.P573Q	ENST00000288135	NM_000222.2	573	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS3496.1	1718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCAACAC	CODON|p.Y553_T574>S|c.1658_1720del63|3,CODON|p.V555_P573del|c.1663_1719del57|3,CODON|p.V560_L576del|c.1678_1728del51|4,CODON|p.Y570_L576del|c.1708_1728del21|9,CODON|p.P573L|c.1718C>T|5,BUFFER|p.V555_I571del|c.1663_1713del51|3,BUFFER|p.D572G|c.1715A>G|4,BUFFER|p.T574A|c.1720A>G|3,BUFFER|p.L576del|c.1726_1728delCTT|5,BUFFER|p.L576F|c.1726C>T|4,BUFFER|p.L576P|c.1727T>C|85,BUFFER|p.P577S|c.1729C>T|3	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112	.	.	ENSP00000288135	.	11/21	.	.	.	.	.	.	.	.	COSM96883	11/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.948)	.	deleterious(0)	1	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Pro569Gln,ENST00000412167,;KIT,missense_variant,p.Pro573Gln,ENST00000288135,;KIT,upstream_gene_variant,,ENST00000512959,;	1815	82	124	SUCCESS
MAPK10	5602	.	GRCh37	4	86989078	86989078	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	62	91	0	ENST00000359221.3:c.833A>T	p.Gln278Leu	p.Q278L	ENST00000359221		278	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34026.1	833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGTTGTTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF162,hmmpanther:PTHR24055,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01772	.	.	ENSP00000352157	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000359221	Transcript	1	.	ENSG00000109339	6872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.74)	.	MK10_HUMAN	MAPK10	HGNC	D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN	.	UPI0000049042	SNV	MAPK10,missense_variant,p.Gln133Leu,ENST00000449047,;MAPK10,missense_variant,p.Gln133Leu,ENST00000395160,;MAPK10,missense_variant,p.Gln278Leu,ENST00000361569,;MAPK10,missense_variant,p.Gln240Leu,ENST00000395169,;MAPK10,missense_variant,p.Gln133Leu,ENST00000395157,;MAPK10,missense_variant,p.Gln278Leu,ENST00000359221,;MAPK10,missense_variant,p.Gln191Leu,ENST00000515400,;MAPK10,missense_variant,p.Gln240Leu,ENST00000395166,;MAPK10,missense_variant,p.Gln278Leu,ENST00000395161,;MAPK10,non_coding_transcript_exon_variant,,ENST00000489368,;MAPK10,3_prime_UTR_variant,,ENST00000310816,;MAPK10,non_coding_transcript_exon_variant,,ENST00000508262,;	1360	91	85	SUCCESS
SLC12A7	10723	.	GRCh37	5	1053526	1053526	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	31	147	0	ENST00000264930.5:c.3098A>G	p.Asp1033Gly	p.D1033G	ENST00000264930	NM_006598.2	1033	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34129.1	3098	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCATCCTGG	NONE	.	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.16)	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,missense_variant,p.Asp1033Gly,ENST00000264930,;SLC12A7,downstream_gene_variant,,ENST00000513223,;SLC12A7,downstream_gene_variant,,ENST00000514994,;	3142	147	186	SUCCESS
TCF7	6932	.	GRCh37	5	133480499	133480499	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	194	0	ENST00000342854.5:c.1075+1168C>T		p.*359*	ENST00000342854	NM_003202.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4169.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGCCTAAG	NONE	.	.	.	.	.	ENSP00000340347	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342854	Transcript	.	.	ENSG00000081059	11639	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF7_HUMAN	TCF7	HGNC	E5RJ51_HUMAN,E5RG75_HUMAN,B3KQ75_HUMAN	.	UPI000006230C	SNV	TCF7,missense_variant,p.Pro248Ser,ENST00000432532,;TCF7,missense_variant,p.Pro248Ser,ENST00000378560,;TCF7,missense_variant,p.Pro363Ser,ENST00000395029,;TCF7,intron_variant,,ENST00000517799,;TCF7,intron_variant,,ENST00000517855,;TCF7,intron_variant,,ENST00000321584,;TCF7,intron_variant,,ENST00000321603,;TCF7,intron_variant,,ENST00000520699,;TCF7,intron_variant,,ENST00000342854,;TCF7,intron_variant,,ENST00000378564,;TCF7,intron_variant,,ENST00000395023,;TCF7,intron_variant,,ENST00000518915,;TCF7,intron_variant,,ENST00000520958,;TCF7,downstream_gene_variant,,ENST00000519037,;TCF7,downstream_gene_variant,,ENST00000518887,;SKP1,downstream_gene_variant,,ENST00000353411,;TCF7,downstream_gene_variant,,ENST00000522375,;TCF7,downstream_gene_variant,,ENST00000521639,;TCF7,downstream_gene_variant,,ENST00000517851,;TCF7,downstream_gene_variant,,ENST00000517478,;TCF7,non_coding_transcript_exon_variant,,ENST00000524342,;TCF7,non_coding_transcript_exon_variant,,ENST00000522653,;TCF7,intron_variant,,ENST00000519238,;TCF7,downstream_gene_variant,,ENST00000522561,;TCF7,downstream_gene_variant,,ENST00000519165,;TCF7,downstream_gene_variant,,ENST00000519447,;TCF7,downstream_gene_variant,,ENST00000520652,;TCF7,downstream_gene_variant,,ENST00000517741,;	.	194	94	SUCCESS
PITX1	5307	.	GRCh37	5	134364795	134364795	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1450755660	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	184	0	ENST00000265340.7:c.619C>G	p.Pro207Ala	p.P207A	ENST00000265340	NM_002653.4	207	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS4182.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF254,hmmpanther:PTHR24329,PIRSF_domain:PIRSF000563	.	.	ENSP00000265340	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000265340	Transcript	1	.	ENSG00000069011	9004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.06)	.	PITX1_HUMAN	PITX1	HGNC	D6R9U1_HUMAN,D6R955_HUMAN	.	UPI0000169650	SNV	PITX1,missense_variant,p.Pro207Ala,ENST00000265340,;PITX1,missense_variant,p.Pro207Ala,ENST00000506438,;C5orf66,upstream_gene_variant,,ENST00000432382,;PITX1,downstream_gene_variant,,ENST00000502676,;PITX1,downstream_gene_variant,,ENST00000507253,;PITX1,downstream_gene_variant,,ENST00000503586,;C5orf66,upstream_gene_variant,,ENST00000505828,;C5orf66,upstream_gene_variant,,ENST00000507641,;PITX1,downstream_gene_variant,,ENST00000504936,;	1036	184	112	SUCCESS
DNAH5	1767	.	GRCh37	5	13830159	13830159	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	40	155	0	ENST00000265104.4:c.6225T>A	p.Pro2075=	p.P2075=	ENST00000265104	NM_001369.2	2075	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3882.1	6225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCAGGGTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	37/79	.	.	.	.	.	.	.	.	.	37/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	6330	155	221	SUCCESS
PSD2	84249	.	GRCh37	5	139189340	139189340	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	30	83	0	ENST00000274710.3:c.315A>T	p.Ala105=	p.A105=	ENST00000274710	NM_032289.2	105	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4216.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCAGAGGG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	.	ENSP00000274710	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,synonymous_variant,p.%3D,ENST00000274710,;	520	83	56	SUCCESS
ANKHD1	54882	.	GRCh37	5	139909162	139909162	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	114	0	ENST00000360839.2:c.6631A>T	p.Asn2211Tyr	p.N2211Y	ENST00000360839	NM_017747.2	2211	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS4224.1	6631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAATCAC	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Asn662Tyr,ENST00000432301,;ANKHD1,missense_variant,p.Asn702Tyr,ENST00000435794,;ANKHD1,missense_variant,p.Asn2211Tyr,ENST00000360839,;ANKHD1,missense_variant,p.Asn594Tyr,ENST00000544120,;ANKHD1,missense_variant,p.Asn2211Tyr,ENST00000297183,;ANKHD1,missense_variant,p.Asn733Tyr,ENST00000433049,;ANKHD1-EIF4EBP3,missense_variant,p.Asn222Tyr,ENST00000437495,;ANKHD1,missense_variant,p.Asn867Tyr,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Asn2211Tyr,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000421134,;SNORD45,upstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,upstream_gene_variant,,ENST00000475148,;	6755	114	90	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140308516	140308516	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	72	0	ENST00000253807.2:c.2039A>T	p.Gln680Leu	p.Q680L	ENST00000253807	NM_018898.3	680	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4241.1	2039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAGAACT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,missense_variant,p.Gln680Leu,ENST00000253807,;PCDHAC1,missense_variant,p.Gln680Leu,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2039	72	47	SUCCESS
PCDHB2	56133	.	GRCh37	5	140475814	140475814	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	49	212	0	ENST00000194155.4:c.1440A>T	p.Arg480Ser	p.R480S	ENST00000194155	NM_018936.2	480	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4244.1	1440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGAGACTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF77,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000194155	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000194155	Transcript	.	.	ENSG00000112852	8687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.46)	.	PCDB2_HUMAN	PCDHB2	HGNC	.	.	UPI00001273DC	SNV	PCDHB2,missense_variant,p.Arg480Ser,ENST00000194155,;PCDHB3,upstream_gene_variant,,ENST00000231130,;AC005754.7,downstream_gene_variant,,ENST00000607216,;	1588	212	140	SUCCESS
HMGXB3	22993	.	GRCh37	5	149431544	149431544	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	78	0	ENST00000502717.1:c.3668A>T	p.Asp1223Val	p.D1223V	ENST00000502717	NM_014983.2	1223	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS54935.1	3668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGACAATG	NONE	.	.	hmmpanther:PTHR17609:SF0,hmmpanther:PTHR17609	.	.	ENSP00000421917	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000502717	Transcript	.	.	ENSG00000113716	28982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	HMGX3_HUMAN	HMGXB3	HGNC	Q6P442_HUMAN	.	UPI00001C1E29	SNV	HMGXB3,missense_variant,p.Asp1223Val,ENST00000502717,;HMGXB3,missense_variant,p.Asp1191Val,ENST00000503427,;CSF1R,downstream_gene_variant,,ENST00000286301,;CSF1R,downstream_gene_variant,,ENST00000509861,;HMGXB3,downstream_gene_variant,,ENST00000514469,;CSF1R,downstream_gene_variant,,ENST00000504875,;CSF1R,downstream_gene_variant,,ENST00000515068,;HMGXB3,downstream_gene_variant,,ENST00000510472,;	4132	78	61	SUCCESS
SLC36A3	285641	.	GRCh37	5	150663626	150663626	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761701562	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	134	0	ENST00000335230.3:c.953C>A	p.Thr318Asn	p.T318N	ENST00000335230	NM_181774.3	318	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS47316.1	1076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGTGATG	NONE	.	.	Pfam_domain:PF01490,hmmpanther:PTHR22950:SF203,hmmpanther:PTHR22950	.	.	ENSP00000366942	.	9/11	.	.	.	.	.	.	.	.	rs761701562	9/11	PASS	ENST00000377713	Transcript	.	.	ENSG00000186334	19659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0)	.	S36A3_HUMAN	SLC36A3	HGNC	.	.	UPI00005764D3	SNV	SLC36A3,missense_variant,p.Thr318Asn,ENST00000335230,;SLC36A3,missense_variant,p.Thr359Asn,ENST00000377713,;SLC36A3,non_coding_transcript_exon_variant,,ENST00000423071,;	1218	134	100	SUCCESS
FBXL7	23194	.	GRCh37	5	15928539	15928539	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	48	146	0	ENST00000504595.1:c.668A>T	p.Tyr223Phe	p.Y223F	ENST00000504595	NM_012304.4	223	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS54833.1	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTACAATA	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.65)	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Tyr211Phe,ENST00000329673,;FBXL7,missense_variant,p.Tyr176Phe,ENST00000510662,;FBXL7,missense_variant,p.Tyr223Phe,ENST00000504595,;	1149	146	222	SUCCESS
MYO10	4651	.	GRCh37	5	16704767	16704767	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	51	0	ENST00000513610.1:c.2197A>T	p.Lys733Ter	p.K733*	ENST00000513610	NM_012334.2	733	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS54834.1	2197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTTCTGTT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52540,SMART_domains:SM00242,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	22/41	.	.	.	.	.	.	.	.	.	22/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,stop_gained,p.Lys744Ter,ENST00000513882,;MYO10,stop_gained,p.Lys90Ter,ENST00000274203,;MYO10,stop_gained,p.Lys90Ter,ENST00000427430,;MYO10,stop_gained,p.Lys72Ter,ENST00000515803,;MYO10,stop_gained,p.Lys72Ter,ENST00000505695,;MYO10,stop_gained,p.Lys733Ter,ENST00000513610,;MYO10,non_coding_transcript_exon_variant,,ENST00000510401,;MYO10,non_coding_transcript_exon_variant,,ENST00000512061,;MYO10,non_coding_transcript_exon_variant,,ENST00000506343,;	2652	51	60	SUCCESS
MGAT1	4245	.	GRCh37	5	180218676	180218676	+	synonymous_variant	Silent	SNP	C	C	T	rs773672393	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	90	257	0	ENST00000307826.4:c.1296G>A	p.Ala432=	p.A432=	ENST00000307826	NM_001114619.1	432	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4458.1	1296	RADIA|MUTECT|MUSE	.	GGGGGCGCCAG	NONE	byFrequency	.	Superfamily_domains:SSF53448,Pfam_domain:PF03071,Gene3D:1fo8A02,hmmpanther:PTHR10468,hmmpanther:PTHR10468:SF0	.	.	ENSP00000404718	.	3/3	.	.	.	.	.	.	.	.	rs773672393	3/3	PASS	ENST00000446023	Transcript	.	.	ENSG00000131446	7044	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MGAT1_HUMAN	MGAT1	HGNC	Q59G70_HUMAN,D6RIS2_HUMAN,D6RHZ8_HUMAN,D6RF69_HUMAN,D6RD15_HUMAN,D6RBS3_HUMAN,D6RB69_HUMAN,D6RAK2_HUMAN,D6RA48_HUMAN,D6R9U2_HUMAN	.	UPI000013CDF1	SNV	MGAT1,synonymous_variant,p.%3D,ENST00000446023,;MGAT1,synonymous_variant,p.%3D,ENST00000393340,;MGAT1,synonymous_variant,p.%3D,ENST00000307826,;MGAT1,synonymous_variant,p.%3D,ENST00000427865,;MGAT1,synonymous_variant,p.%3D,ENST00000333055,;MGAT1,downstream_gene_variant,,ENST00000514283,;MGAT1,downstream_gene_variant,,ENST00000507384,;MGAT1,downstream_gene_variant,,ENST00000514438,;MGAT1,downstream_gene_variant,,ENST00000506269,;MGAT1,downstream_gene_variant,,ENST00000512695,;MGAT1,downstream_gene_variant,,ENST00000513431,;MGAT1,downstream_gene_variant,,ENST00000506889,;MGAT1,downstream_gene_variant,,ENST00000502678,;MGAT1,downstream_gene_variant,,ENST00000504671,;CTC-205M6.5,upstream_gene_variant,,ENST00000562870,;MGAT1,downstream_gene_variant,,ENST00000505682,;MGAT1,downstream_gene_variant,,ENST00000504385,;MGAT1,downstream_gene_variant,,ENST00000514760,;	2047	258	191	SUCCESS
MAP1B	4131	.	GRCh37	5	71494849	71494849	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	26	50	0	ENST00000296755.7:c.5667T>C	p.Tyr1889=	p.Y1889=	ENST00000296755	NM_005909.3	1889	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS4012.1	5667	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACTATGAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5,PROSITE_patterns:PS00230	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,synonymous_variant,p.%3D,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	5965	50	43	SUCCESS
CMYA5	202333	.	GRCh37	5	79057643	79057643	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	34	90	1	ENST00000446378.2:c.11270A>T	p.Glu3757Val	p.E3757V	ENST00000446378	NM_153610.3	3757	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS47238.1	11270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGAAGAAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000394770	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,missense_variant,p.Glu3757Val,ENST00000446378,;CMYA5,non_coding_transcript_exon_variant,,ENST00000505466,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	11301	91	66	SUCCESS
VCAN	1462	.	GRCh37	5	82834673	82834673	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	62	0	ENST00000265077.3:c.5851G>A	p.Glu1951Lys	p.E1951K	ENST00000265077	NM_004385.4	1951	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4060.1	5851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGAAGAA	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.06)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.Glu1951Lys,ENST00000265077,;VCAN,missense_variant,p.Glu964Lys,ENST00000343200,;VCAN,missense_variant,p.Glu964Lys,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	6416	62	55	SUCCESS
GPR98	0	.	GRCh37	5	89971058	89971058	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	78	0	ENST00000405460.2:c.5111-2A>T		p.X1704_splice	ENST00000405460	NM_032119.3	1704		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47246.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTAGGCTT	NONE	.	.	.	.	.	ENSP00000384582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	HIGH	23/89	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,splice_acceptor_variant,,ENST00000405460,;GPR98,splice_acceptor_variant,,ENST00000450321,;	.	78	57	SUCCESS
ELL2	22936	.	GRCh37	5	95242487	95242487	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	98	1	ENST00000237853.4:c.482-1G>C		p.X161_splice	ENST00000237853	NM_012081.5	161		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4080.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCTAAAG	NONE	.	.	.	.	.	ENSP00000237853	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	HIGH	4/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,splice_acceptor_variant,,ENST00000237853,;ELL2,intron_variant,,ENST00000513343,;ELL2,intron_variant,,ENST00000431061,;ELL2,splice_acceptor_variant,,ENST00000506628,;	.	99	80	SUCCESS
TAS2R1	50834	.	GRCh37	5	9630202	9630202	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	209	193	2	ENST00000382492.2:c.-58C>A		p.*20*	ENST00000382492	NM_019599.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3876.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GACAGGTTGGG	NONE	.	.	.	.	.	ENSP00000371932	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382492	Transcript	.	.	ENSG00000169777	14909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TA2R1_HUMAN	TAS2R1	HGNC	U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN	.	UPI0000038B09	SNV	TAS2R1,5_prime_UTR_variant,,ENST00000382492,;TAS2R1,intron_variant,,ENST00000514078,;TAS2R1,intron_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;	262	195	326	SUCCESS
FRK	2444	.	GRCh37	6	116277657	116277657	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	60	0	ENST00000606080.1:c.916A>T	p.Thr306Ser	p.T306S	ENST00000606080	NM_002031.2	306	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS5103.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTAATAA	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418:SF22,hmmpanther:PTHR24418,PROSITE_profiles:PS50011	.	.	ENSP00000476145	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000606080	Transcript	.	.	ENSG00000111816	3955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FRK_HUMAN	FRK	HGNC	.	.	UPI000012AC35	SNV	FRK,missense_variant,p.Thr306Ser,ENST00000606080,;FRK,missense_variant,p.Thr164Ser,ENST00000538210,;	1363	60	28	SUCCESS
HIVEP2	3097	.	GRCh37	6	143092423	143092423	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	83	0	ENST00000012134.2:c.3453G>T	p.Leu1151=	p.L1151=	ENST00000012134		1151	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43510.1	3453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCAGTGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53	.	.	ENSP00000356575	.	5/10	.	.	.	.	.	.	.	.	COSM3948094	5/10	PASS	ENST00000367603	Transcript	.	.	ENSG00000010818	4921	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZEP2_HUMAN	HIVEP2	HGNC	B4DKE9_HUMAN	.	UPI00004708DD	SNV	HIVEP2,synonymous_variant,p.%3D,ENST00000367603,;HIVEP2,synonymous_variant,p.%3D,ENST00000012134,;HIVEP2,synonymous_variant,p.%3D,ENST00000367604,;	4196	83	82	SUCCESS
TIAM2	26230	.	GRCh37	6	155569180	155569180	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	57	108	0	ENST00000318981.5:c.3699C>T	p.Pro1233=	p.P1233=	ENST00000318981	NM_012454.3	1233	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34558.1	3699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCACCAA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000437188	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,synonymous_variant,p.%3D,ENST00000461783,;TIAM2,synonymous_variant,p.%3D,ENST00000318981,;TIAM2,synonymous_variant,p.%3D,ENST00000528391,;TIAM2,synonymous_variant,p.%3D,ENST00000275246,;TIAM2,synonymous_variant,p.%3D,ENST00000528535,;TIAM2,synonymous_variant,p.%3D,ENST00000456144,;TIAM2,synonymous_variant,p.%3D,ENST00000367174,;TIAM2,synonymous_variant,p.%3D,ENST00000529824,;TIAM2,synonymous_variant,p.%3D,ENST00000360366,;TIAM2,synonymous_variant,p.%3D,ENST00000456877,;TIAM2,downstream_gene_variant,,ENST00000462408,;TIAM2,downstream_gene_variant,,ENST00000543712,;TIAM2,downstream_gene_variant,,ENST00000546145,;TIAM2,upstream_gene_variant,,ENST00000537845,;	4972	108	70	SUCCESS
NUP153	9972	.	GRCh37	6	17637902	17637902	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760392087	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	15	0	ENST00000262077.2:c.1946G>A	p.Gly649Glu	p.G649E	ENST00000262077	NM_001278210.1	649	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS4541.1	1946	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CAATTCCACTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	.	.	ENSP00000262077	.	16/22	.	.	.	.	.	.	.	.	rs760392087	16/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.05)	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,missense_variant,p.Gly680Glu,ENST00000537253,;NUP153,missense_variant,p.Gly649Glu,ENST00000262077,;	1946	15	13	SUCCESS
ABHD16A	7920	.	GRCh37	6	31660873	31660873	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	47	72	0	ENST00000395952.3:c.557A>T	p.Glu186Val	p.E186V	ENST00000395952	NM_021160.2	186	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4713.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTCTGGG	NONE	.	.	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF54	.	.	ENSP00000379282	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000395952	Transcript	.	.	ENSG00000204427	13921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	tolerated(0.08)	.	ABHGA_HUMAN	ABHD16A	HGNC	B3KNX9_HUMAN	.	UPI00001267A2	SNV	ABHD16A,missense_variant,p.Glu186Val,ENST00000395952,;ABHD16A,missense_variant,p.Glu153Val,ENST00000440843,;ABHD16A,missense_variant,p.Ser88Cys,ENST00000538874,;XXbac-BPG32J3.20,3_prime_UTR_variant,,ENST00000461287,;ABHD16A,5_prime_UTR_variant,,ENST00000375842,;ABHD16A,upstream_gene_variant,,ENST00000471644,;ABHD16A,3_prime_UTR_variant,,ENST00000498420,;ABHD16A,3_prime_UTR_variant,,ENST00000492084,;ABHD16A,3_prime_UTR_variant,,ENST00000477462,;ABHD16A,3_prime_UTR_variant,,ENST00000482224,;ABHD16A,3_prime_UTR_variant,,ENST00000468037,;ABHD16A,3_prime_UTR_variant,,ENST00000495769,;ABHD16A,upstream_gene_variant,,ENST00000468205,;ABHD16A,upstream_gene_variant,,ENST00000492899,;ABHD16A,upstream_gene_variant,,ENST00000496579,;ABHD16A,upstream_gene_variant,,ENST00000474007,;ABHD16A,upstream_gene_variant,,ENST00000490209,;ABHD16A,upstream_gene_variant,,ENST00000475742,;ABHD16A,upstream_gene_variant,,ENST00000477016,;	720	72	60	SUCCESS
PSMB9	5698	.	GRCh37	6	32826201	32826201	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	88	0	ENST00000374859.2:c.451A>T	p.Ser151Cys	p.S151C	ENST00000374859	NM_002800.4	151	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS4759.1	451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCAGCACC	NONE	.	.	Prints_domain:PR00141,Superfamily_domains:SSF56235,Gene3D:3.60.20.10,Pfam_domain:PF00227,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF50,PROSITE_profiles:PS51476	.	.	ENSP00000363993	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000374859	Transcript	.	.	ENSG00000240065	9546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PSB9_HUMAN	PSMB9	HGNC	A2ACR1_HUMAN,A2ACR0_HUMAN	.	UPI00001325CD	SNV	PSMB9,missense_variant,p.Ser107Cys,ENST00000453265,;PSMB9,missense_variant,p.Ser128Cys,ENST00000414474,;PSMB9,missense_variant,p.Ser128Cys,ENST00000395330,;PSMB9,missense_variant,p.Ser151Cys,ENST00000374859,;TAP1,upstream_gene_variant,,ENST00000354258,;PSMB9,non_coding_transcript_exon_variant,,ENST00000467593,;PSMB9,non_coding_transcript_exon_variant,,ENST00000464863,;	520	88	70	SUCCESS
DEF6	50619	.	GRCh37	6	35280290	35280290	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	70	153	0	ENST00000316637.5:c.635A>T	p.Glu212Val	p.E212V	ENST00000316637	NM_022047.3	212	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4802.1	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGAGCTCA	NONE	.	.	hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2	.	.	ENSP00000319831	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000316637	Transcript	.	.	ENSG00000023892	2760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DEFI6_HUMAN	DEF6	HGNC	.	.	UPI000006E74E	SNV	DEF6,missense_variant,p.Glu212Val,ENST00000316637,;DEF6,missense_variant,p.Glu121Val,ENST00000444278,;DEF6,intron_variant,,ENST00000542066,;	640	153	85	SUCCESS
NCR2	9436	.	GRCh37	6	41309647	41309647	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	45	96	0	ENST00000373089.5:c.510T>C	p.Ser170=	p.S170=	ENST00000373089	NM_004828.3	170	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4855.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCTACCAT	NONE	.	.	hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF2	.	.	ENSP00000362181	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000373089	Transcript	.	.	ENSG00000096264	6732	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCTR2_HUMAN	NCR2	HGNC	.	.	UPI000006DFB0	SNV	NCR2,synonymous_variant,p.%3D,ENST00000373089,;NCR2,synonymous_variant,p.%3D,ENST00000373083,;NCR2,synonymous_variant,p.%3D,ENST00000373086,;	598	96	57	SUCCESS
LMOD2	442721	.	GRCh37	7	123302237	123302237	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	92	0	ENST00000458573.2:c.597T>A	p.Ile199=	p.I199=	ENST00000458573	NM_207163.1	199	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47693.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATTGAGGA	NONE	.	.	Superfamily_domains:SSF52047,hmmpanther:PTHR10901:SF12,hmmpanther:PTHR10901	.	.	ENSP00000411932	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000458573	Transcript	.	.	ENSG00000170807	6648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMOD2_HUMAN	LMOD2	HGNC	B4DUL7_HUMAN	.	UPI0001572CCA	SNV	LMOD2,synonymous_variant,p.%3D,ENST00000458573,;LMOD2,intron_variant,,ENST00000456238,;	754	92	83	SUCCESS
WASL	8976	.	GRCh37	7	123332584	123332584	+	synonymous_variant	Silent	SNP	C	C	T	rs138588268	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	38	0	ENST00000223023.4:c.1164G>A	p.Pro388=	p.P388=	ENST00000223023	NM_003941.3	388	ccG/ccA	0	A:0.002	A:0.0015	.	A:0	.	T	P	protein_coding	YES	CCDS34743.1	1164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCGGGGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Superfamily_domains:0037032,hmmpanther:PTHR12779:SF3,hmmpanther:PTHR12779	A:0	A:0	ENSP00000223023	A:0	9/11	.	.	.	.	.	.	.	.	rs138588268	9/11	PASS	ENST00000223023	Transcript	.	A:0.0004	ENSG00000106299	12735	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	WASL_HUMAN	WASL	HGNC	.	.	UPI000013C821	SNV	WASL,synonymous_variant,p.%3D,ENST00000223023,;	1497	38	24	SUCCESS
LEP	3952	.	GRCh37	7	127894794	127894794	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771956117	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	36	0	ENST00000308868.4:c.482T>A	p.Leu161Gln	p.L161Q	ENST00000308868	NM_000230.2	161	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS5800.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTGGACC	NONE	.	.	hmmpanther:PTHR11724,Gene3D:1.20.1250.10,Pfam_domain:PF02024,PIRSF_domain:PIRSF001837,Superfamily_domains:SSF47266,Prints_domain:PR00495	.	.	ENSP00000312652	.	3/3	.	.	.	.	.	.	.	.	rs771956117	3/3	PASS	ENST00000308868	Transcript	.	.	ENSG00000174697	6553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LEP_HUMAN	LEP	HGNC	A4D0Y8_HUMAN,Q4TVR7_HUMAN	.	UPI00000308D4	SNV	LEP,missense_variant,p.Leu161Gln,ENST00000308868,;	533	36	21	SUCCESS
CNOT4	4850	.	GRCh37	7	135095305	135095305	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs548144515	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	70	0	ENST00000315544.5:c.781A>T	p.Lys261Ter	p.K261*	ENST00000315544	NM_001190848.1	261	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS55165.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTATCAA	NONE	.	.	hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2	.	.	ENSP00000445508	.	7/12	.	.	.	.	.	.	.	.	rs548144515	7/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	SNV	CNOT4,stop_gained,p.Lys261Ter,ENST00000356162,;CNOT4,stop_gained,p.Lys261Ter,ENST00000541284,;CNOT4,stop_gained,p.Lys261Ter,ENST00000451834,;CNOT4,stop_gained,p.Lys261Ter,ENST00000414802,;CNOT4,stop_gained,p.Lys261Ter,ENST00000423368,;CNOT4,stop_gained,p.Lys261Ter,ENST00000361528,;CNOT4,stop_gained,p.Lys261Ter,ENST00000428680,;CNOT4,stop_gained,p.Lys261Ter,ENST00000315544,;	1112	70	57	SUCCESS
KIAA1549	57670	.	GRCh37	7	138602195	138602195	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	67	1	ENST00000422774.1:c.2177C>A	p.Ser726Tyr	p.S726Y	ENST00000422774		726	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS56513.1	2177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAGAATCA	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	.	.	ENSP00000416040	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.59)	.	deleterious(0.01)	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,missense_variant,p.Ser726Tyr,ENST00000422774,;KIAA1549,missense_variant,p.Ser676Tyr,ENST00000242365,;KIAA1549,missense_variant,p.Ser726Tyr,ENST00000440172,;	2226	68	60	SUCCESS
MGAM	8972	.	GRCh37	7	141765270	141765270	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	35	83	0	ENST00000549489.2:c.4618+2T>A		p.X1540_splice	ENST00000549489	NM_004668.2	1540		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47727.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGTGCGTG	NONE	.	.	.	.	.	ENSP00000447378	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	HIGH	38/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,splice_donor_variant,,ENST00000475668,;MGAM,splice_donor_variant,,ENST00000549489,;	.	83	59	SUCCESS
SSPO	0	.	GRCh37	7	149529876	149529876	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	78	0	ENST00000378016.2:n.15293A>T		p.*5098*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCAGTGTG	NONE	.	.	.	.	.	.	.	108/109	.	.	.	.	.	.	.	.	.	108/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000493567,;SSPO,downstream_gene_variant,,ENST00000492965,;SSPO,downstream_gene_variant,,ENST00000461331,;SSPO,downstream_gene_variant,,ENST00000488835,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;	15293	78	35	SUCCESS
WDR60	0	.	GRCh37	7	158672638	158672638	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	64	192	0	ENST00000407559.3:c.837A>G	p.Lys279=	p.K279=	ENST00000407559	NM_018051.4	279	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47757.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAGAGAA	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30	.	.	ENSP00000384290	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,synonymous_variant,p.%3D,ENST00000407559,;WDR60,synonymous_variant,p.%3D,ENST00000444851,;WDR60,upstream_gene_variant,,ENST00000467220,;	995	192	170	SUCCESS
ABCB5	340273	.	GRCh37	7	20698148	20698148	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199505251	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	51	0	ENST00000404938.2:c.1556G>T	p.Gly519Val	p.G519V	ENST00000404938	NM_001163941.1	519	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS55090.1	1556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGGGGAAA	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000384881	.	14/28	.	.	.	.	.	.	.	.	rs199505251	14/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Gly74Val,ENST00000443026,;ABCB5,missense_variant,p.Gly74Val,ENST00000258738,;ABCB5,missense_variant,p.Gly519Val,ENST00000404938,;ABCB5,missense_variant,p.Gly74Val,ENST00000406935,;	2208	51	24	SUCCESS
ABCB5	340273	.	GRCh37	7	20762841	20762841	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	70	0	ENST00000404938.2:c.2624A>T	p.Lys875Met	p.K875M	ENST00000404938	NM_001163941.1	875	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS55090.1	2624	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAAGGTAA	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000384881	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Lys430Met,ENST00000258738,;ABCB5,missense_variant,p.Lys875Met,ENST00000404938,;ABCB5,missense_variant,p.Lys42Met,ENST00000441315,;	3276	70	38	SUCCESS
CARD11	84433	.	GRCh37	7	2984108	2984108	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	95	0	ENST00000396946.4:c.422A>T	p.Gln141Leu	p.Q141L	ENST00000396946	NM_032415.4	141	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5336.2	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTGCTGC	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Gln141Leu,ENST00000396946,;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,non_coding_transcript_exon_variant,,ENST00000423194,;	826	95	74	SUCCESS
TBX20	57057	.	GRCh37	7	35293206	35293206	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	40	0	ENST00000408931.3:c.26C>A	p.Pro9His	p.P9H	ENST00000408931	NM_001077653.2	9	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS43568.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGGGCTTG	NONE	.	.	hmmpanther:PTHR11267	.	.	ENSP00000386170	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000408931	Transcript	.	.	ENSG00000164532	11598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious_low_confidence(0)	.	TBX20_HUMAN	TBX20	HGNC	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN	.	UPI00004B23D3	SNV	TBX20,missense_variant,p.Pro9His,ENST00000408931,;AC009531.2,downstream_gene_variant,,ENST00000442323,;TBX20,non_coding_transcript_exon_variant,,ENST00000492961,;	553	40	26	SUCCESS
SDK1	221935	.	GRCh37	7	4188918	4188918	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1468698192	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	69	0	ENST00000404826.2:c.4448T>A	p.Leu1483His	p.L1483H	ENST00000404826	NM_152744.3	1483	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS34590.1	4448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTCCTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	30/45	.	.	.	.	.	.	.	.	.	30/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.03)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Leu1483His,ENST00000404826,;SDK1,missense_variant,p.Leu1483His,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	4587	69	51	SUCCESS
SDK1	221935	.	GRCh37	7	4201422	4201422	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	119	0	ENST00000404826.2:c.4734A>T	p.Pro1578=	p.P1578=	ENST00000404826	NM_152744.3	1578	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34590.1	4734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCAGGAGA	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	32/45	.	.	.	.	.	.	.	.	.	32/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,synonymous_variant,p.%3D,ENST00000404826,;SDK1,synonymous_variant,p.%3D,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	4873	119	81	SUCCESS
GLI3	2737	.	GRCh37	7	42088201	42088201	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	50	224	0	ENST00000395925.3:c.568T>A	p.Phe190Ile	p.F190I	ENST00000395925	NM_000168.5	190	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS5465.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAAGGGAG	NONE	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Phe190Ile,ENST00000395925,;GLI3,downstream_gene_variant,,ENST00000448703,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	653	224	151	SUCCESS
POM121L12	285877	.	GRCh37	7	53103631	53103631	+	synonymous_variant	Silent	SNP	G	G	A	rs772385441	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	21	1	ENST00000408890.4:c.267G>A	p.Pro89=	p.P89=	ENST00000408890	NM_182595.3	89	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43584.1	267	SOMATICSNIPER|VARSCANS	.	AAGCCGCAGCG	NONE	byFrequency	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	rs772385441,COSM746543	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,synonymous_variant,p.%3D,ENST00000408890,;	283	22	28	SUCCESS
GTF2IRD2B	389524	.	GRCh37	7	74524809	74524809	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	293	83	475	0	ENST00000312575.7:c.53A>T	p.Glu18Val	p.E18V	ENST00000312575	NM_001003795.2	18	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34659.1	53	RADIA|VARSCANS	.	CTCAGAGACCA	NONE	.	.	hmmpanther:PTHR11697:SF35,hmmpanther:PTHR11697	.	.	ENSP00000308080	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000312575	Transcript	.	.	ENSG00000174428	33125	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.328)	.	deleterious_low_confidence(0.01)	.	GTD2B_HUMAN	GTF2IRD2B	HGNC	Q86Y00_HUMAN,G8JLN0_HUMAN	.	UPI0000251DF5	SNV	GTF2IRD2B,missense_variant,p.Glu18Val,ENST00000430511,;GTF2IRD2B,missense_variant,p.Glu18Val,ENST00000312575,;GTF2IRD2B,missense_variant,p.Glu18Val,ENST00000356115,;GTF2IRD2B,missense_variant,p.Glu18Val,ENST00000423666,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000483059,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000398546,;	228	475	376	SUCCESS
PCLO	27445	.	GRCh37	7	82583094	82583094	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777900734	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	47	1	ENST00000333891.9:c.7175C>A	p.Pro2392Gln	p.P2392Q	ENST00000333891	NM_033026.5	2392	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS47630.1	7175	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGAATGGGCGA	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	rs777900734	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro2392Gln,ENST00000333891,;PCLO,missense_variant,p.Pro2392Gln,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7513	48	51	SUCCESS
ASNS	440	.	GRCh37	7	97484710	97484710	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	29	0	ENST00000175506.4:c.1092A>T	p.Gly364=	p.G364=	ENST00000175506	NM_183356.3	364	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5652.1	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTCCAGA	NONE	.	.	hmmpanther:PTHR11772:SF5,hmmpanther:PTHR11772,TIGRFAM_domain:TIGR01536,Gene3D:3.40.50.620,Pfam_domain:PF00733,PIRSF_domain:PIRSF001589,Superfamily_domains:SSF52402	.	.	ENSP00000175506	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000175506	Transcript	.	.	ENSG00000070669	753	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASNS_HUMAN	ASNS	HGNC	C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN	.	UPI0000169F55	SNV	ASNS,synonymous_variant,p.%3D,ENST00000394309,;ASNS,synonymous_variant,p.%3D,ENST00000437628,;ASNS,synonymous_variant,p.%3D,ENST00000175506,;ASNS,synonymous_variant,p.%3D,ENST00000455086,;ASNS,synonymous_variant,p.%3D,ENST00000444334,;ASNS,synonymous_variant,p.%3D,ENST00000394308,;ASNS,synonymous_variant,p.%3D,ENST00000422745,;ASNS,downstream_gene_variant,,ENST00000442734,;ASNS,synonymous_variant,p.%3D,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000462436,;ASNS,upstream_gene_variant,,ENST00000487714,;	1621	29	41	SUCCESS
PILRA	29992	.	GRCh37	7	99987596	99987596	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	46	243	2	ENST00000198536.2:c.540C>G	p.Val180=	p.V180=	ENST00000198536	NM_013439.2	180	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS5691.1	540	RADIA|SOMATICSNIPER|VARSCANS	.	AGGGTCACACA	NONE	.	.	hmmpanther:PTHR15549,hmmpanther:PTHR15549:SF1	.	.	ENSP00000198536	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000198536	Transcript	.	.	ENSG00000085514	20396	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PILRA_HUMAN	PILRA	HGNC	.	.	UPI000013C61C	SNV	PILRA,synonymous_variant,p.%3D,ENST00000198536,;PILRA,intron_variant,,ENST00000350573,;PILRA,intron_variant,,ENST00000432297,;PILRA,intron_variant,,ENST00000394000,;PILRA,intron_variant,,ENST00000453419,;	752	245	135	SUCCESS
TRPS1	7227	.	GRCh37	8	116599393	116599393	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	47	0	ENST00000220888.5:c.2496T>G	p.Asn832Lys	p.N832K	ENST00000220888		832	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS6318.2	2535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATTGGG	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	deleterious_low_confidence(0)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Asn836Lys,ENST00000520276,;TRPS1,missense_variant,p.Asn832Lys,ENST00000220888,;TRPS1,missense_variant,p.Asn636Lys,ENST00000517323,;TRPS1,missense_variant,p.Asn586Lys,ENST00000519076,;TRPS1,missense_variant,p.Asn845Lys,ENST00000395715,;TRPS1,missense_variant,p.Asn832Lys,ENST00000519674,;	3113	47	104	SUCCESS
NOV	0	.	GRCh37	8	120431542	120431542	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	67	91	1	ENST00000259526.3:c.734T>A	p.Met245Lys	p.M245K	ENST00000259526	NM_002514.3	245	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS6328.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATGGTGC	NONE	.	.	Superfamily_domains:SSF82895,PIRSF_domain:PIRSF036495,SMART_domains:SM00209,Pfam_domain:PF00090,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS50092	.	.	ENSP00000259526	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	deleterious(0)	.	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,missense_variant,p.Met245Lys,ENST00000259526,;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	961	92	169	SUCCESS
ATAD2	29028	.	GRCh37	8	124361592	124361592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	61	1	ENST00000287394.5:c.1739T>C	p.Ile580Thr	p.I580T	ENST00000287394	NM_014109.3	580	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6343.1	1739	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GATCTATAGAA	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1,PROSITE_patterns:PS00674,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000287394	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Ile580Thr,ENST00000287394,;ATAD2,5_prime_UTR_variant,,ENST00000521903,;MIR548D1,downstream_gene_variant,,ENST00000384971,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;DUTP2,upstream_gene_variant,,ENST00000519164,;	1847	62	107	SUCCESS
LRRC6	0	.	GRCh37	8	133595953	133595953	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	42	82	1	ENST00000250173.1:c.1214A>T	p.Gln405Leu	p.Q405L	ENST00000250173		405	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6365.1	1214	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTTGTTCT	NONE	.	.	hmmpanther:PTHR10588:SF114,hmmpanther:PTHR10588	.	.	ENSP00000250173	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000250173	Transcript	1	.	ENSG00000129295	16725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.045)	.	tolerated(0.08)	.	TILB_HUMAN	LRRC6	HGNC	.	.	UPI000000DBC5	SNV	LRRC6,missense_variant,p.Gln405Leu,ENST00000519595,;LRRC6,missense_variant,p.Gln402Leu,ENST00000518642,;LRRC6,missense_variant,p.Gln405Leu,ENST00000250173,;LRRC6,missense_variant,p.Gln145Leu,ENST00000522789,;LRRC6,non_coding_transcript_exon_variant,,ENST00000522597,;	1288	83	254	SUCCESS
PUF60	22827	.	GRCh37	8	144899155	144899155	+	synonymous_variant	Silent	SNP	G	G	A	rs372944670	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	10	98	0	ENST00000526683.1:c.1305C>T	p.Ser435=	p.S435=	ENST00000526683	NM_001271098.1	435	agC/agT	0	A:0.0002	.	.	.	.	A	S	protein_coding	YES	CCDS47934.1	1305	MUTECT|MUSE|VARSCANS	.	TGCTCGCTCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24011:SF246,hmmpanther:PTHR24011	.	A:0	ENSP00000434359	.	11/12	.	.	.	.	.	.	.	.	rs372944670	11/12	PASS	ENST00000526683	Transcript	.	.	ENSG00000179950	17042	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PUF60_HUMAN	PUF60	HGNC	.	.	UPI00000713CF	SNV	PUF60,synonymous_variant,p.%3D,ENST00000349157,;PUF60,synonymous_variant,p.%3D,ENST00000313352,;PUF60,synonymous_variant,p.%3D,ENST00000527197,;PUF60,synonymous_variant,p.%3D,ENST00000526683,;PUF60,synonymous_variant,p.%3D,ENST00000453551,;PUF60,synonymous_variant,p.%3D,ENST00000456095,;PUF60,downstream_gene_variant,,ENST00000529999,;PUF60,downstream_gene_variant,,ENST00000532884,;PUF60,downstream_gene_variant,,ENST00000531897,;SCRIB,upstream_gene_variant,,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000527744,;SCRIB,upstream_gene_variant,,ENST00000356994,;PUF60,downstream_gene_variant,,ENST00000533162,;PUF60,downstream_gene_variant,,ENST00000526459,;SCRIB,upstream_gene_variant,,ENST00000320476,;MIR937,upstream_gene_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000531951,;PUF60,downstream_gene_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000533362,;PUF60,downstream_gene_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000528320,;PUF60,downstream_gene_variant,,ENST00000529693,;PUF60,downstream_gene_variant,,ENST00000531995,;PUF60,downstream_gene_variant,,ENST00000526151,;PUF60,downstream_gene_variant,,ENST00000532127,;PUF60,downstream_gene_variant,,ENST00000527584,;	1861	98	113	SUCCESS
EPPK1	83481	.	GRCh37	8	144943295	144943295	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782660781	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	46	0	ENST00000525985.1:c.4127A>T	p.Gln1376Leu	p.Q1376L	ENST00000525985	NM_031308.2	1376	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	4127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCTGGGGC	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	rs782660781	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.Gln1376Leu,ENST00000525985,;	4199	46	88	SUCCESS
SLC39A4	55630	.	GRCh37	8	145640635	145640635	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	217	30	133	0	ENST00000301305.3:c.643A>T	p.Ser215Cys	p.S215C	ENST00000301305	NM_130849.3	215	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS6424.1	643	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTGCTGT	NONE	.	.	hmmpanther:PTHR12191:SF11,hmmpanther:PTHR12191	.	.	ENSP00000301305	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000301305	Transcript	1	.	ENSG00000147804	17129	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	S39A4_HUMAN	SLC39A4	HGNC	Q9NX22_HUMAN	.	UPI00001AED01	SNV	SLC39A4,missense_variant,p.Ser121Cys,ENST00000526658,;SLC39A4,missense_variant,p.Ser190Cys,ENST00000276833,;SLC39A4,missense_variant,p.Ser215Cys,ENST00000301305,;SLC39A4,upstream_gene_variant,,ENST00000532718,;SLC39A4,upstream_gene_variant,,ENST00000527148,;SLC39A4,upstream_gene_variant,,ENST00000531013,;SLC39A4,upstream_gene_variant,,ENST00000530807,;SLC39A4,upstream_gene_variant,,ENST00000531789,;SLC39A4,upstream_gene_variant,,ENST00000529462,;	749	133	247	SUCCESS
LZTS1	11178	.	GRCh37	8	20112615	20112615	+	synonymous_variant	Silent	SNP	G	G	A	rs1164846871	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	91	0	ENST00000265801.6:c.78C>T	p.Arg26=	p.R26=	ENST00000265801	NM_021020.2	26	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6015.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGCGCAG	NONE	.	.	hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354	.	.	ENSP00000370981	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000381569	Transcript	1	.	ENSG00000061337	13861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS1_HUMAN	LZTS1	HGNC	.	.	UPI000006DEE8	SNV	LZTS1,synonymous_variant,p.%3D,ENST00000522290,;LZTS1,synonymous_variant,p.%3D,ENST00000381569,;LZTS1,synonymous_variant,p.%3D,ENST00000265801,;	436	91	92	SUCCESS
C8orf58	541565	.	GRCh37	8	22458397	22458397	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	39	70	0	ENST00000289989.5:c.43G>T	p.Gly15Trp	p.G15W	ENST00000289989		15	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS34862.1	43	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGGGGCT	NONE	.	.	.	.	.	ENSP00000289989	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000289989	Transcript	.	.	ENSG00000241852	32233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CH058_HUMAN	C8orf58	HGNC	.	.	UPI000022D4E7	SNV	C8orf58,missense_variant,p.Gly15Trp,ENST00000289989,;AC037459.4,missense_variant,p.Gly84Trp,ENST00000450780,;C8orf58,missense_variant,p.Gly15Trp,ENST00000409586,;AC037459.4,missense_variant,p.Met122Ile,ENST00000430850,;AC037459.4,missense_variant,p.Trp107Leu,ENST00000447849,;CCAR2,upstream_gene_variant,,ENST00000523349,;CCAR2,upstream_gene_variant,,ENST00000389279,;PDLIM2,downstream_gene_variant,,ENST00000265810,;C8orf58,upstream_gene_variant,,ENST00000475994,;CCAR2,upstream_gene_variant,,ENST00000521837,;CCAR2,upstream_gene_variant,,ENST00000523801,;C8orf58,upstream_gene_variant,,ENST00000495957,;CCAR2,upstream_gene_variant,,ENST00000521301,;CCAR2,upstream_gene_variant,,ENST00000308511,;C8orf58,splice_region_variant,,ENST00000453427,;	117	70	59	SUCCESS
UNC5D	137970	.	GRCh37	8	35542098	35542098	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	101	0	ENST00000404895.2:c.752-2A>T		p.X251_splice	ENST00000404895	NM_080872.2	251		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6093.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCAGTGAA	NONE	.	.	.	.	.	ENSP00000385143	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	HIGH	5/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,splice_acceptor_variant,,ENST00000453357,;UNC5D,splice_acceptor_variant,,ENST00000416672,;UNC5D,splice_acceptor_variant,,ENST00000404895,;UNC5D,intron_variant,,ENST00000287272,;UNC5D,intron_variant,,ENST00000420357,;UNC5D,splice_acceptor_variant,,ENST00000474634,;	.	101	74	SUCCESS
WHSC1L1	0	.	GRCh37	8	38133854	38133854	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	74	232	1	ENST00000317025.8:c.4032A>C	p.Ala1344=	p.A1344=	ENST00000317025	NM_023034.1	1344	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS43729.1	4032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTATGCTTT	NONE	.	.	PROSITE_profiles:PS50016,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000313983	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000317025	Transcript	.	.	ENSG00000147548	12767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD3_HUMAN	WHSC1L1	HGNC	E9PQ95_HUMAN,E9PKA2_HUMAN	.	UPI000006F297	SNV	WHSC1L1,synonymous_variant,p.%3D,ENST00000433384,;WHSC1L1,synonymous_variant,p.%3D,ENST00000317025,;WHSC1L1,synonymous_variant,p.%3D,ENST00000527502,;RP11-513D5.5,intron_variant,,ENST00000529325,;DDHD2,downstream_gene_variant,,ENST00000526071,;DDHD2,downstream_gene_variant,,ENST00000529872,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000528828,;	4550	233	293	SUCCESS
CHD7	55636	.	GRCh37	8	61765635	61765635	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	46	163	0	ENST00000423902.2:c.6351C>T	p.Leu2117=	p.L2117=	ENST00000423902	NM_017780.3	2117	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47865.1	6351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCAATGA	NONE	.	.	.	.	.	ENSP00000392028	.	31/38	.	.	.	.	.	.	.	.	.	31/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,synonymous_variant,p.%3D,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000531695,;	6830	163	167	SUCCESS
TMEM245	23731	.	GRCh37	9	111853343	111853343	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	50	62	0	ENST00000374586.3:c.1009A>T	p.Arg337Ter	p.R337*	ENST00000374586	NM_032012.3	337	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43858.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCTGCCCA	NONE	.	.	hmmpanther:PTHR21716,hmmpanther:PTHR21716:SF1	.	.	ENSP00000363714	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000374586	Transcript	.	.	ENSG00000106771	1363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM245_HUMAN	TMEM245	HGNC	.	.	UPI000013C833	SNV	TMEM245,stop_gained,p.Arg337Ter,ENST00000374586,;TMEM245,upstream_gene_variant,,ENST00000413712,;TMEM245,stop_gained,p.Arg87Ter,ENST00000491854,;	1041	62	81	SUCCESS
C9orf84	0	.	GRCh37	9	114500592	114500592	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	40	0	ENST00000374287.3:c.1193T>A	p.Ile398Lys	p.I398K	ENST00000374287		398	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS6781.3	1193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATATCTCA	NONE	.	.	.	.	.	ENSP00000363405	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000374287	Transcript	.	.	ENSG00000165181	26535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.06)	.	CI084_HUMAN	C9orf84	HGNC	.	.	UPI0000458916	SNV	C9orf84,missense_variant,p.Ile398Lys,ENST00000318737,;C9orf84,missense_variant,p.Ile398Lys,ENST00000374287,;C9orf84,missense_variant,p.Ile359Lys,ENST00000394779,;C9orf84,missense_variant,p.Ile462Lys,ENST00000374283,;C9orf84,missense_variant,p.Ile359Lys,ENST00000394777,;	1454	40	57	SUCCESS
HDHD3	81932	.	GRCh37	9	116135994	116135994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	56	83	0	ENST00000238379.5:c.641C>T	p.Pro214Leu	p.P214L	ENST00000238379	NM_031219.2	214	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6793.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGGGCCA	NONE	.	.	hmmpanther:PTHR12725,hmmpanther:PTHR12725:SF57,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	.	.	ENSP00000238379	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000238379	Transcript	.	.	ENSG00000119431	28171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.1)	.	HDHD3_HUMAN	HDHD3	HGNC	.	.	UPI0000073CC1	SNV	HDHD3,missense_variant,p.Pro214Leu,ENST00000374180,;HDHD3,missense_variant,p.Pro214Leu,ENST00000238379,;BSPRY,downstream_gene_variant,,ENST00000374183,;BSPRY,downstream_gene_variant,,ENST00000462085,;HDHD3,downstream_gene_variant,,ENST00000485934,;	1539	83	94	SUCCESS
NCS1	23413	.	GRCh37	9	132980139	132980139	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	34	112	0	ENST00000372398.3:c.118A>T	p.Ser40Cys	p.S40C	ENST00000372398	NM_014286.3	40	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS6932.1	118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCAGTGGG	NONE	.	.	hmmpanther:PTHR23055,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450	.	.	ENSP00000361475	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000372398	Transcript	.	.	ENSG00000107130	3953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.663)	.	deleterious(0)	.	NCS1_HUMAN	NCS1	HGNC	.	.	UPI00000000FB	SNV	NCS1,missense_variant,p.Ser40Cys,ENST00000372398,;NCS1,missense_variant,p.Ser22Cys,ENST00000458469,;NCS1,non_coding_transcript_exon_variant,,ENST00000493042,;	204	112	121	SUCCESS
RAPGEF1	2889	.	GRCh37	9	134525525	134525525	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	58	83	0	ENST00000372189.3:c.255A>C	p.Gln85His	p.Q85H	ENST00000372189	NM_005312.2	85	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS48048.1	309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTTTGAGA	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40	.	.	ENSP00000361264	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000372190	Transcript	.	.	ENSG00000107263	4568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	tolerated(0.27)	.	RPGF1_HUMAN	RAPGEF1	HGNC	Q5JUE5_HUMAN	.	UPI0000074689	SNV	RAPGEF1,missense_variant,p.Gln103His,ENST00000372190,;RAPGEF1,missense_variant,p.Gln103His,ENST00000427994,;RAPGEF1,missense_variant,p.Gln102His,ENST00000372195,;RAPGEF1,missense_variant,p.Gln85His,ENST00000372189,;RAPGEF1,intron_variant,,ENST00000438647,;	468	83	76	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136302900	136302900	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	74	1	ENST00000371929.3:c.1467C>T	p.Ala489=	p.A489=	ENST00000371929	NM_139025.4	489	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6970.1	1467	MUTECT|MUSE|VARSCANS	.	CGGGCCATTGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161	.	.	ENSP00000360997	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,synonymous_variant,p.%3D,ENST00000355699,;ADAMTS13,synonymous_variant,p.%3D,ENST00000356589,;ADAMTS13,synonymous_variant,p.%3D,ENST00000371929,;ADAMTS13,synonymous_variant,p.%3D,ENST00000536611,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,intron_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000495234,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;	1911	75	59	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18776974	18776974	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	50	78	1	ENST00000380548.4:c.2747A>T	p.Gln916Leu	p.Q916L	ENST00000380548	NM_001040272.5	916	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47954.1	2747	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGGCCAGCACC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000369921	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.155)	.	deleterious(0.02)	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Gln916Leu,ENST00000380548,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	3086	80	61	SUCCESS
SLC24A2	25769	.	GRCh37	9	19786418	19786418	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	26	29	0	ENST00000341998.2:c.447A>T	p.Leu149Phe	p.L149F	ENST00000341998	NM_001193288.2	149	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6493.1	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCTAAGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000344801	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,missense_variant,p.Leu149Phe,ENST00000341998,;SLC24A2,missense_variant,p.Leu149Phe,ENST00000286344,;	509	29	32	SUCCESS
IFNW1	3467	.	GRCh37	9	21141360	21141360	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	40	77	0	ENST00000380229.2:c.210G>T	p.Gln70His	p.Q70H	ENST00000380229	NM_002177.1	70	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS6496.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACTGGCT	NONE	.	.	Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691	.	.	ENSP00000369578	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380229	Transcript	.	.	ENSG00000177047	5448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.08)	.	IFNW1_HUMAN	IFNW1	HGNC	.	.	UPI000002C6DC	SNV	IFNW1,missense_variant,p.Gln70His,ENST00000380229,;	785	77	50	SUCCESS
TLE4	7091	.	GRCh37	9	82333727	82333727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	33	155	0	ENST00000376552.2:c.1431T>A	p.His477Gln	p.H477Q	ENST00000376552	NM_007005.3	477	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS43837.1	1431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCATGCTCG	NONE	.	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000365735	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	tolerated(0.09)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.His114Gln,ENST00000376534,;TLE4,missense_variant,p.His477Gln,ENST00000376552,;TLE4,missense_variant,p.His509Gln,ENST00000376537,;TLE4,missense_variant,p.His408Gln,ENST00000376544,;TLE4,missense_variant,p.His509Gln,ENST00000376520,;TLE4,missense_variant,p.His452Gln,ENST00000265284,;TLE4,missense_variant,p.His293Gln,ENST00000496114,;TLE4,non_coding_transcript_exon_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;	2449	155	144	SUCCESS
SPATA31C1	441452	.	GRCh37	9	90535600	90535600	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	44	149	0	ENST00000420021.2:n.1075G>C		p.*359*	ENST00000420021				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGACACC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000420021	Transcript	.	.	ENSG00000230246	27846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31C1	HGNC	.	.	.	SNV	SPATA31C1,non_coding_transcript_exon_variant,,ENST00000602681,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000437823,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000420021,;	1075	149	168	SUCCESS
SAGE1	55511	.	GRCh37	X	134994077	134994077	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782705352	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	28	49	0	ENST00000324447.3:c.2486A>T	p.Tyr829Phe	p.Y829F	ENST00000324447		829	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS14652.1	2486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATATCAAT	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957,Pfam_domain:PF15300	.	.	ENSP00000445959	.	18/20	.	.	.	.	.	.	.	.	rs782705352	18/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.496)	.	tolerated(0.15)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Tyr829Phe,ENST00000370709,;SAGE1,missense_variant,p.Tyr829Phe,ENST00000535938,;SAGE1,missense_variant,p.Tyr453Phe,ENST00000537770,;SAGE1,missense_variant,p.Tyr829Phe,ENST00000324447,;	2653	49	33	SUCCESS
AKAP17A	8227	.	GRCh37	X	1718233	1718233	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	34	159	0	ENST00000313871.3:c.1060G>T	p.Glu354Ter	p.E354*	ENST00000313871	NM_005088.2	354	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14116.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGAGAAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12484:SF2,hmmpanther:PTHR12484	.	.	ENSP00000324827	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000313871	Transcript	.	.	ENSG00000197976	18783	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AK17A_HUMAN	AKAP17A	HGNC	.	.	UPI00001AF072	SNV	AKAP17A,stop_gained,p.Glu354Ter,ENST00000381261,;AKAP17A,stop_gained,p.Glu354Ter,ENST00000313871,;AKAP17A,stop_gained,p.Glu354Ter,ENST00000474361,;	1256	159	57	SUCCESS
ARX	170302	.	GRCh37	X	25033712	25033712	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	37	119	0	ENST00000379044.4:c.143A>T	p.Gln48Leu	p.Q48L	ENST00000379044	NM_139058.2	48	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS14215.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGCGCG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF269	.	.	ENSP00000368332	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000379044	Transcript	.	.	ENSG00000004848	18060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	ARX_HUMAN	ARX	HGNC	.	.	UPI00001260CA	SNV	ARX,missense_variant,p.Gln48Leu,ENST00000379044,;	354	119	43	SUCCESS
ERCC6L	54821	.	GRCh37	X	71425152	71425152	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	35	57	0	ENST00000334463.3:c.3465C>A	p.Asn1155Lys	p.N1155K	ENST00000334463	NM_017669.2	1155	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS35329.1	3465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGTTTTC	NONE	.	.	hmmpanther:PTHR10799:SF67,hmmpanther:PTHR10799	.	.	ENSP00000334675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334463	Transcript	.	.	ENSG00000186871	20794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.2)	.	ERC6L_HUMAN	ERCC6L	HGNC	B5MDQ0_HUMAN	.	UPI000021233E	SNV	ERCC6L,missense_variant,p.Asn1032Lys,ENST00000373657,;ERCC6L,missense_variant,p.Asn1155Lys,ENST00000334463,;PIN4,intron_variant,,ENST00000423432,;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;	3601	57	43	SUCCESS
BRWD3	254065	.	GRCh37	X	79989645	79989645	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	65	0	ENST00000373275.4:c.1058A>T	p.Glu353Val	p.E353V	ENST00000373275	NM_153252.4	353	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS14447.1	1058	MUTECT|MUSE|VARSCANS	.	TTTTCTCAGGA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362372	.	11/41	.	.	.	.	.	.	.	.	.	11/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.1)	.	tolerated(0.06)	.	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	SNV	BRWD3,missense_variant,p.Glu353Val,ENST00000373275,;BRWD3,upstream_gene_variant,,ENST00000487313,;	1275	65	52	SUCCESS
CYLC1	1538	.	GRCh37	X	83126557	83126557	+	synonymous_variant	Silent	SNP	G	G	A	rs770520850	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	31	88	0	ENST00000329312.4:c.156G>A	p.Leu52=	p.L52=	ENST00000329312	NM_021118.2	52	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS35341.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGAAATC	NONE	byFrequency	.	hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742,Pfam_domain:PF15241	.	.	ENSP00000331556	.	3/5	.	.	.	.	.	.	.	.	rs770520850,COSM3563706,COSM3563705	3/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,synonymous_variant,p.%3D,ENST00000329312,;	193	88	51	SUCCESS
LOXL4	84171	.	GRCh37	10	100021841	100021841	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377758453	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	68	0	ENST00000260702.3:c.407G>A	p.Arg136His	p.R136H	ENST00000260702	NM_032211.6	136	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7473.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCGCCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,Superfamily_domains:SSF56487	.	T:0.0001	ENSP00000260702	.	3/15	.	.	.	.	.	.	.	.	rs377758453	3/15	PASS	ENST00000260702	Transcript	.	.	ENSG00000138131	17171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	deleterious(0.01)	.	LOXL4_HUMAN	LOXL4	HGNC	.	.	UPI0000046706	SNV	LOXL4,missense_variant,p.Arg136His,ENST00000260702,;	558	68	43	SUCCESS
NOLC1	9221	.	GRCh37	10	103921354	103921354	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	29	90	0	ENST00000605788.1:c.1783G>T	p.Ala595Ser	p.A595S	ENST00000605788	NM_004741.3	595	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS7530.1	1783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGCAGAG	NONE	.	.	hmmpanther:PTHR23216	.	.	ENSP00000474710	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000605788	Transcript	.	.	ENSG00000166197	15608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	NOLC1_HUMAN	NOLC1	HGNC	Q96J17_HUMAN	.	UPI000013E575	SNV	NOLC1,missense_variant,p.Ala604Ser,ENST00000370007,;NOLC1,missense_variant,p.Ala595Ser,ENST00000605788,;NOLC1,missense_variant,p.Ala596Ser,ENST00000488254,;NOLC1,missense_variant,p.Ala314Ser,ENST00000603742,;NOLC1,missense_variant,p.Ala605Ser,ENST00000405356,;NOLC1,downstream_gene_variant,,ENST00000476468,;NOLC1,downstream_gene_variant,,ENST00000461421,;NOLC1,non_coding_transcript_exon_variant,,ENST00000477977,;NOLC1,3_prime_UTR_variant,,ENST00000603946,;NOLC1,3_prime_UTR_variant,,ENST00000464969,;	2018	90	39	SUCCESS
SFXN2	118980	.	GRCh37	10	104489489	104489489	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	18	30	0	ENST00000369893.5:c.517C>T	p.Pro173Ser	p.P173S	ENST00000369893	NM_178858.4	173	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7539.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGCCCTTG	NONE	.	.	hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF14,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820	.	.	ENSP00000358909	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000369893	Transcript	.	.	ENSG00000156398	16086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.461)	.	tolerated(0.09)	.	SFXN2_HUMAN	SFXN2	HGNC	R4GN74_HUMAN,R4GMW0_HUMAN	.	UPI0000001241	SNV	SFXN2,missense_variant,p.Pro173Ser,ENST00000369893,;SFXN2,downstream_gene_variant,,ENST00000602764,;SFXN2,downstream_gene_variant,,ENST00000602831,;SFXN2,downstream_gene_variant,,ENST00000602439,;SFXN2,downstream_gene_variant,,ENST00000602868,;SFXN2,downstream_gene_variant,,ENST00000602647,;SFXN2,downstream_gene_variant,,ENST00000602785,;SFXN2,synonymous_variant,p.%3D,ENST00000459894,;SFXN2,intron_variant,,ENST00000480358,;SFXN2,downstream_gene_variant,,ENST00000602670,;SFXN2,downstream_gene_variant,,ENST00000602287,;SFXN2,downstream_gene_variant,,ENST00000602660,;SFXN2,downstream_gene_variant,,ENST00000602544,;	684	30	22	SUCCESS
AFAP1L2	84632	.	GRCh37	10	116061116	116061116	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	23	70	0	ENST00000304129.4:c.1539T>G	p.Ala513=	p.A513=	ENST00000304129	NM_001287824.1	513	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS31286.1	1539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCAGCTGT	NONE	.	.	hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338	.	.	ENSP00000303042	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000304129	Transcript	.	.	ENSG00000169129	25901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF1L2_HUMAN	AFAP1L2	HGNC	.	.	UPI0000071FAF	SNV	AFAP1L2,synonymous_variant,p.%3D,ENST00000304129,;AFAP1L2,synonymous_variant,p.%3D,ENST00000545353,;AFAP1L2,synonymous_variant,p.%3D,ENST00000369271,;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000491814,;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000486300,;	1569	70	30	SUCCESS
MMP21	118856	.	GRCh37	10	127455372	127455372	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	38	91	0	ENST00000368808.3:c.1569C>T	p.Gly523=	p.G523=	ENST00000368808	NM_147191.1	523	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7647.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGCCTTT	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF123,hmmpanther:PTHR10201,Gene3D:2.110.10.10,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000357798	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368808	Transcript	.	.	ENSG00000154485	14357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP21_HUMAN	MMP21	HGNC	.	.	UPI000006FDF6	SNV	MMP21,synonymous_variant,p.%3D,ENST00000368808,;EDRF1,downstream_gene_variant,,ENST00000356792,;EDRF1,downstream_gene_variant,,ENST00000337623,;EDRF1,downstream_gene_variant,,ENST00000368815,;EDRF1,downstream_gene_variant,,ENST00000527655,;EDRF1,downstream_gene_variant,,ENST00000481600,;EDRF1,downstream_gene_variant,,ENST00000419769,;EDRF1,downstream_gene_variant,,ENST00000368812,;EDRF1,downstream_gene_variant,,ENST00000525358,;	1569	91	52	SUCCESS
CAMK1D	57118	.	GRCh37	10	12858286	12858286	+	synonymous_variant	Silent	SNP	G	G	A	rs199768578	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	18	315	0	ENST00000378847.3:c.792G>A	p.Pro264=	p.P264=	ENST00000378847	NM_153498.2	264	ccG/ccA	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS7091.1	792	MUTECT|MUSE|VARSCANS	.	GACCCGAATAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF116,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	A:0.001	.	ENSP00000368124	A:0	8/11	.	.	.	.	.	.	.	.	rs199768578,COSM1247276,COSM1247275	8/11	PASS	ENST00000378847	Transcript	.	A:0.0002	ENSG00000183049	19341	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	A:0	.	0,1,1	KCC1D_HUMAN	CAMK1D	HGNC	.	.	UPI000003CA33	SNV	CAMK1D,synonymous_variant,p.%3D,ENST00000378845,;CAMK1D,synonymous_variant,p.%3D,ENST00000378847,;	1129	315	201	SUCCESS
SYT15	83849	.	GRCh37	10	46965864	46965864	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202146218	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	130	0	ENST00000374321.4:c.673C>A	p.Gln225Lys	p.Q225K	ENST00000374321	NM_031912.4	225	Cag/Aag	0	C:0	C:0	.	C:0.0014	.	T	Q/K	protein_coding	YES	CCDS44376.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGGGTGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF185,hmmpanther:PTHR10024,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	C:0	C:0.0009	ENSP00000363441	C:0.004	5/8	.	.	.	.	.	.	.	.	rs202146218	5/8	PASS	ENST00000374321	Transcript	.	C:0.0010	ENSG00000204176	17167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	C:0	deleterious(0)	.	SYT15_HUMAN	SYT15	HGNC	.	.	UPI00001AA161	SNV	SYT15,missense_variant,p.Gln109Lys,ENST00000512997,;SYT15,missense_variant,p.Gln278Lys,ENST00000374323,;SYT15,missense_variant,p.Gln15Lys,ENST00000374328,;SYT15,missense_variant,p.Gln225Lys,ENST00000503753,;SYT15,missense_variant,p.Gln225Lys,ENST00000374321,;SYT15,missense_variant,p.Gln225Lys,ENST00000374325,;RP11-38L15.3,intron_variant,,ENST00000506914,;SYT15,upstream_gene_variant,,ENST00000449358,;	740	130	82	SUCCESS
CHST3	9469	.	GRCh37	10	73765630	73765630	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	42	88	0	ENST00000373115.4:c.30C>A	p.Asp10Glu	p.D10E	ENST00000373115	NM_004273.4	10	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS7312.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACTGCCG	NONE	.	.	PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.26)	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,missense_variant,p.Asp10Glu,ENST00000373115,;	467	88	56	SUCCESS
PGR	5241	.	GRCh37	11	100922293	100922293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149186732	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	123	0	ENST00000325455.5:c.2219G>A	p.Arg740Gln	p.R740Q	ENST00000325455	NM_001202474.3	740	cGa/cAa	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8310.1	2219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCGAAAA	SITE|p.R740Q|c.2219G>A|6,BUFFER|p.R740*|c.2218C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398	.	T:0.0002	ENSP00000325120	.	5/8	.	.	.	.	.	.	.	.	rs149186732,COSM53395	5/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.952)	.	deleterious(0.01)	0,1	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,missense_variant,p.Arg638Gln,ENST00000263463,;PGR,missense_variant,p.Arg740Gln,ENST00000325455,;PGR,missense_variant,p.Arg146Gln,ENST00000534013,;PGR,missense_variant,p.Arg740Gln,ENST00000534780,;PGR,missense_variant,p.Arg701Gln,ENST00000528960,;PGR,missense_variant,p.Arg638Gln,ENST00000526300,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,upstream_gene_variant,,ENST00000530764,;	3673	123	98	SUCCESS
DDI1	414301	.	GRCh37	11	103908038	103908038	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	72	0	ENST00000302259.3:c.488G>A	p.Arg163His	p.R163H	ENST00000302259	NM_001001711.2	163	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS31660.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACGCAACC	CODON|p.R163C|c.487C>T|3,CODON|p.R163C|c.487C>T|3	.	.	hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	COSM1350490,COSM1350491	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.158)	.	deleterious(0.01)	1,1	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,missense_variant,p.Arg163His,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	731	72	45	SUCCESS
KMT2A	4297	.	GRCh37	11	118376454	118376454	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	69	0	ENST00000534358.1:c.9847C>T	p.Arg3283Ter	p.R3283*	ENST00000534358	NM_005933.3	3283	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS55791.1	9847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCGAACT	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	27/36	.	.	.	.	.	.	.	.	COSM415319,COSM1133343	27/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,stop_gained,p.Arg3280Ter,ENST00000389506,;KMT2A,stop_gained,p.Arg3242Ter,ENST00000354520,;KMT2A,stop_gained,p.Arg3283Ter,ENST00000534358,;KMT2A,upstream_gene_variant,,ENST00000534085,;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534678,;	9870	69	62	SUCCESS
ROBO4	54538	.	GRCh37	11	124765401	124765401	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764396914	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	33	0	ENST00000306534.3:c.988G>T	p.Ala330Ser	p.A330S	ENST00000306534	NM_019055.5	330	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8455.1	988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGCCCGGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000304945	.	6/18	.	.	.	.	.	.	.	.	rs764396914	6/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.65)	.	tolerated(0.22)	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,missense_variant,p.Ala330Ser,ENST00000306534,;ROBO4,missense_variant,p.Ala185Ser,ENST00000533054,;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,downstream_gene_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,downstream_gene_variant,,ENST00000526899,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,downstream_gene_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000533337,;	1474	33	39	SUCCESS
BRSK2	9024	.	GRCh37	11	1466647	1466647	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199880359	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	115	1	ENST00000528841.1:c.936C>A	p.Phe312Leu	p.F312L	ENST00000528841		312	ttC/ttA	0	.	T:0.0008	.	T:0	.	A	F/L	protein_coding	YES	CCDS58108.1	1074	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCGAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24343:SF84,hmmpanther:PTHR24343	T:0	.	ENSP00000371614	T:0	10/20	.	.	.	.	.	.	.	.	rs199880359,COSM687128	10/20	PASS	ENST00000382179	Transcript	.	T:0.0002	ENSG00000174672	11405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	T:0	deleterious(0.03)	0,1	BRSK2_HUMAN	BRSK2	HGNC	E9PRY3_HUMAN,E9PPI2_HUMAN	.	UPI000035E827	SNV	BRSK2,missense_variant,p.Phe252Leu,ENST00000528710,;BRSK2,missense_variant,p.Phe312Leu,ENST00000526678,;BRSK2,missense_variant,p.Phe312Leu,ENST00000308219,;BRSK2,missense_variant,p.Phe312Leu,ENST00000308230,;BRSK2,missense_variant,p.Phe7Leu,ENST00000544817,;BRSK2,missense_variant,p.Phe358Leu,ENST00000382179,;BRSK2,missense_variant,p.Phe312Leu,ENST00000528841,;BRSK2,missense_variant,p.Phe312Leu,ENST00000531197,;BRSK2,downstream_gene_variant,,ENST00000524702,;BRSK2,downstream_gene_variant,,ENST00000528596,;BRSK2,missense_variant,p.Phe312Leu,ENST00000529433,;BRSK2,3_prime_UTR_variant,,ENST00000529951,;BRSK2,non_coding_transcript_exon_variant,,ENST00000531078,;	1327	117	51	SUCCESS
USH1C	10083	.	GRCh37	11	17548323	17548323	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	35	150	1	ENST00000318024.4:c.556G>A	p.Asp186Asn	p.D186N	ENST00000318024	NM_005709.3	186	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS7825.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCCACAT	NONE	.	.	hmmpanther:PTHR23116:SF32,hmmpanther:PTHR23116	.	.	ENSP00000005226	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000005226	Transcript	.	.	ENSG00000006611	12597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious(0.02)	.	USH1C_HUMAN	USH1C	HGNC	.	.	UPI00001D965A	SNV	USH1C,missense_variant,p.Asp186Asn,ENST00000005226,;USH1C,missense_variant,p.Asp155Asn,ENST00000527720,;USH1C,missense_variant,p.Asp186Asn,ENST00000318024,;USH1C,missense_variant,p.Asp197Asn,ENST00000526181,;USH1C,missense_variant,p.Asp186Asn,ENST00000527020,;USH1C,missense_variant,p.Asp186Asn,ENST00000526313,;	556	151	119	SUCCESS
TH	7054	.	GRCh37	11	2189846	2189846	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760017478	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	29	0	ENST00000381178.1:c.455C>T	p.Pro152Leu	p.P152L	ENST00000381178	NM_199292.2	152	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7731.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CTCGCGGCCTC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF55021,PIRSF_domain:PIRSF000336,TIGRFAM_domain:TIGR01269,Gene3D:1.10.800.10,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF18	.	.	ENSP00000370571	.	4/14	.	.	.	.	.	.	.	.	rs760017478	4/14	PASS	ENST00000381178	Transcript	.	.	ENSG00000180176	11782	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.65)	.	TY3H_HUMAN	TH	HGNC	Q9UQ57_HUMAN,Q9NP14_HUMAN,Q8IZE1_HUMAN,Q6XS77_HUMAN,P78428_HUMAN	.	UPI00001412DD	SNV	TH,missense_variant,p.Pro121Leu,ENST00000352909,;TH,missense_variant,p.Pro152Leu,ENST00000381178,;TH,missense_variant,p.Pro125Leu,ENST00000333684,;TH,missense_variant,p.Pro148Leu,ENST00000381175,;TH,upstream_gene_variant,,ENST00000412076,;MIR4686,upstream_gene_variant,,ENST00000584128,;TH,3_prime_UTR_variant,,ENST00000324155,;TH,3_prime_UTR_variant,,ENST00000381168,;TH,non_coding_transcript_exon_variant,,ENST00000469226,;TH,upstream_gene_variant,,ENST00000479437,;TH,upstream_gene_variant,,ENST00000461172,;TH,upstream_gene_variant,,ENST00000416223,;	474	29	15	SUCCESS
MPPED2	744	.	GRCh37	11	30410485	30410485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	65	1	ENST00000448418.2:c.785C>A	p.Ser262Tyr	p.S262Y	ENST00000448418	NM_001145399.1	262	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	.	CCDS44560.1	785	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGAGATG	NONE	.	.	.	.	.	ENSP00000388258	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000448418	Transcript	.	.	ENSG00000066382	1180	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	deleterious(0.02)	.	MPPD2_HUMAN	MPPED2	HGNC	F2Z346_HUMAN	.	UPI0000DFF8B5	SNV	MPPED2,missense_variant,p.Ser262Tyr,ENST00000448418,;	1146	66	40	SUCCESS
RAG1	5896	.	GRCh37	11	36595488	36595488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	72	0	ENST00000299440.5:c.634G>T	p.Asp212Tyr	p.D212Y	ENST00000299440	NM_000448.2	212	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS7902.1	634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGACATC	NONE	.	.	hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated_low_confidence(0.12)	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,missense_variant,p.Asp212Tyr,ENST00000299440,;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Asp212Tyr,ENST00000534663,;	746	72	70	SUCCESS
TRIM51HP	440041	.	GRCh37	11	55065682	55065682	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	39	162	0	ENST00000530412.1:n.65T>C		p.*22*	ENST00000530412				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAAGTAGT	NONE	.	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000530412	Transcript	.	.	ENSG00000166007	43977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TRIM51HP	HGNC	.	.	.	SNV	TRIM51HP,non_coding_transcript_exon_variant,,ENST00000526016,;TRIM51HP,non_coding_transcript_exon_variant,,ENST00000530412,;RP11-72M10.5,downstream_gene_variant,,ENST00000534192,;	65	162	127	SUCCESS
GLYATL1P2	100129933	.	GRCh37	11	58660207	58660207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	49	0	ENST00000588046.1:n.384G>C		p.*128*	ENST00000588046				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGAGCAT	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000588046	Transcript	.	.	ENSG00000254717	37863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GLYATL1P2	HGNC	.	.	.	SNV	GLYATL1P2,non_coding_transcript_exon_variant,,ENST00000529451,;GLYATL2,intron_variant,,ENST00000533636,;GLYATL1P2,non_coding_transcript_exon_variant,,ENST00000588046,;	384	49	64	SUCCESS
TMEM132A	54972	.	GRCh37	11	60698051	60698051	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	72	0	ENST00000453848.2:c.936G>T	p.Lys312Asn	p.K312N	ENST00000453848		312	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7997.1	936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGCTGGA	NONE	.	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388	.	.	ENSP00000005286	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	deleterious(0.02)	.	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,missense_variant,p.Lys312Asn,ENST00000453848,;TMEM132A,missense_variant,p.Lys50Asn,ENST00000544065,;TMEM132A,missense_variant,p.Lys312Asn,ENST00000005286,;TMEM132A,upstream_gene_variant,,ENST00000536409,;TMEM132A,upstream_gene_variant,,ENST00000535480,;TMEM132A,upstream_gene_variant,,ENST00000540112,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,upstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM132A,upstream_gene_variant,,ENST00000536928,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;TMEM132A,upstream_gene_variant,,ENST00000538090,;	1089	72	37	SUCCESS
OR2D3	120775	.	GRCh37	11	6943217	6943217	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	50	0	ENST00000317834.3:c.985A>T	p.Arg329Trp	p.R329W	ENST00000317834	NM_001004684.1	329	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS31417.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATAGGCAG	NONE	.	.	hmmpanther:PTHR26453:SF136,hmmpanther:PTHR26453	.	.	ENSP00000320560	.	1/1	.	.	.	.	.	.	.	.	COSM1675807	1/1	PASS	ENST00000317834	Transcript	.	.	ENSG00000178358	15146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.613)	.	deleterious(0)	1	OR2D3_HUMAN	OR2D3	HGNC	.	.	UPI0000041C7D	SNV	OR2D3,missense_variant,p.Arg329Trp,ENST00000317834,;ZNF215,upstream_gene_variant,,ENST00000414517,;ZNF215,upstream_gene_variant,,ENST00000278319,;ZNF215,upstream_gene_variant,,ENST00000529755,;ZNF215,upstream_gene_variant,,ENST00000527171,;	1013	50	43	SUCCESS
ST5	0	.	GRCh37	11	8752447	8752447	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	39	0	ENST00000534127.1:c.390del	p.Cys131AlafsTer22	p.C131Afs*22	ENST00000534127	NM_005418.3	130	gcC/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS7791.1	390	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGCAGGCAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000433528	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000534127	Transcript	.	.	ENSG00000166444	11350	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ST5_HUMAN	ST5	HGNC	E9PRS6_HUMAN,E9PQM5_HUMAN,E9PPS6_HUMAN,E9PPL2_HUMAN,E9PN93_HUMAN,E9PMP1_HUMAN,E9PMJ9_HUMAN,E9PME1_HUMAN,E9PM32_HUMAN,E9PLH6_HUMAN,E9PLD7_HUMAN,E9PLB6_HUMAN,E9PKM1_HUMAN,E9PKE0_HUMAN,E9PK36_HUMAN,E9PJY5_HUMAN,E9PJP0_HUMAN,E9PII1_HUMAN,E9PI72_HUMAN	.	UPI00001AECB8	deletion	ST5,frameshift_variant,p.Cys131AlafsTer22,ENST00000357665,;ST5,frameshift_variant,p.Cys131AlafsTer?,ENST00000526241,;ST5,frameshift_variant,p.Cys131AlafsTer22,ENST00000534127,;ST5,frameshift_variant,p.Cys131AlafsTer?,ENST00000530959,;ST5,frameshift_variant,p.Cys148AlafsTer?,ENST00000533580,;ST5,frameshift_variant,p.Cys131AlafsTer?,ENST00000533681,;ST5,frameshift_variant,p.Cys131AlafsTer22,ENST00000528523,;ST5,frameshift_variant,p.Cys131AlafsTer22,ENST00000313726,;ST5,frameshift_variant,p.Cys161AlafsTer22,ENST00000527930,;ST5,intron_variant,,ENST00000530438,;ST5,intron_variant,,ENST00000526057,;ST5,intron_variant,,ENST00000530580,;ST5,intron_variant,,ENST00000531093,;ST5,intron_variant,,ENST00000528196,;ST5,intron_variant,,ENST00000526757,;ST5,intron_variant,,ENST00000526126,;ST5,intron_variant,,ENST00000528527,;ST5,intron_variant,,ENST00000533225,;ST5,intron_variant,,ENST00000527510,;ST5,downstream_gene_variant,,ENST00000526828,;ST5,downstream_gene_variant,,ENST00000530938,;ST5,downstream_gene_variant,,ENST00000533471,;ST5,downstream_gene_variant,,ENST00000527516,;ST5,downstream_gene_variant,,ENST00000533016,;ST5,upstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000524757,;ST5,downstream_gene_variant,,ENST00000534248,;ST5,downstream_gene_variant,,ENST00000527392,;ST5,downstream_gene_variant,,ENST00000527347,;ST5,downstream_gene_variant,,ENST00000534665,;ST5,downstream_gene_variant,,ENST00000525169,;ST5,downstream_gene_variant,,ENST00000526155,;ST5,downstream_gene_variant,,ENST00000527473,;ST5,non_coding_transcript_exon_variant,,ENST00000529940,;ST5,non_coding_transcript_exon_variant,,ENST00000534783,;ST5,intron_variant,,ENST00000526221,;ST5,intron_variant,,ENST00000532651,;ST5,intron_variant,,ENST00000533425,;ST5,intron_variant,,ENST00000532734,;ST5,upstream_gene_variant,,ENST00000527870,;	776	39	26	SUCCESS
FAT3	120114	.	GRCh37	11	92577730	92577730	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1303458972	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	67	223	0	ENST00000298047.6:c.11197A>G	p.Met3733Val	p.M3733V	ENST00000298047		3733	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	.	11197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCATGCGC	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Met68Val,ENST00000533797,;FAT3,missense_variant,p.Met3733Val,ENST00000298047,;FAT3,missense_variant,p.Met3733Val,ENST00000409404,;FAT3,missense_variant,p.Met3583Val,ENST00000525166,;	11214	223	150	SUCCESS
LRRK2	120892	.	GRCh37	12	40657644	40657644	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs267603454	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	119	0	ENST00000298910.7:c.1597G>T	p.Val533Phe	p.V533F	ENST00000298910	NM_198578.3	533	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS31774.1	1597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	ATATGGTTAAA	NONE	byCluster	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000298910	.	14/51	.	.	.	.	.	.	.	.	rs267603454	14/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.197)	.	tolerated(0.05)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Val533Phe,ENST00000343742,;LRRK2,missense_variant,p.Val281Phe,ENST00000416796,;LRRK2,missense_variant,p.Val533Phe,ENST00000298910,;	1655	119	85	SUCCESS
CCNT1	904	.	GRCh37	12	49089809	49089809	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs35965578	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	111	0	ENST00000261900.3:c.679G>T	p.Ala227Ser	p.A227S	ENST00000261900	NM_001240.3	227	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8766.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCGTCAA	NONE	byFrequency	.	hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF42,Superfamily_domains:SSF47954	.	.	ENSP00000261900	.	7/9	.	.	.	.	.	.	.	.	rs35965578	7/9	PASS	ENST00000261900	Transcript	.	.	ENSG00000129315	1599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.59)	.	CCNT1_HUMAN	CCNT1	HGNC	.	.	UPI0000044259	SNV	CCNT1,missense_variant,p.Ala227Ser,ENST00000261900,;CCNT1,intron_variant,,ENST00000417344,;CCNT1,upstream_gene_variant,,ENST00000551989,;	902	111	88	SUCCESS
PDX1	3651	.	GRCh37	13	28498513	28498513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	36	142	0	ENST00000381033.4:c.527G>T	p.Arg176Leu	p.R176L	ENST00000381033	NM_000209.3	176	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS9327.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGGGTGG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF180,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024	.	.	ENSP00000370421	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381033	Transcript	.	.	ENSG00000139515	6107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDX1_HUMAN	PDX1	HGNC	.	.	UPI000012D7D9	SNV	PDX1,missense_variant,p.Arg176Leu,ENST00000381033,;PDX1-AS1,upstream_gene_variant,,ENST00000499662,;	646	143	42	SUCCESS
HNRNPC	3183	.	GRCh37	14	21679444	21679444	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	109	0	ENST00000420743.2:c.859G>T	p.Glu287Ter	p.E287*	ENST00000420743		287	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS41915.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCATCAT	NONE	.	.	PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000319690	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000320084	Transcript	.	.	ENSG00000092199	5035	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRPC_HUMAN	HNRNPC	HGNC	G3V575_HUMAN,G3V555_HUMAN,G3V4M8_HUMAN,G3V2H6_HUMAN	.	UPI000013C6E4	SNV	HNRNPC,stop_gained,p.Glu274Ter,ENST00000554969,;HNRNPC,stop_gained,p.Glu231Ter,ENST00000555883,;HNRNPC,stop_gained,p.Glu207Ter,ENST00000556628,;HNRNPC,stop_gained,p.Glu171Ter,ENST00000554539,;HNRNPC,stop_gained,p.Glu274Ter,ENST00000556897,;HNRNPC,stop_gained,p.Glu274Ter,ENST00000553300,;HNRNPC,stop_gained,p.Glu286Ter,ENST00000555309,;HNRNPC,stop_gained,p.Glu287Ter,ENST00000554455,;HNRNPC,stop_gained,p.Glu273Ter,ENST00000555914,;HNRNPC,stop_gained,p.Glu287Ter,ENST00000557201,;HNRNPC,stop_gained,p.Glu195Ter,ENST00000557157,;HNRNPC,stop_gained,p.Glu287Ter,ENST00000420743,;HNRNPC,stop_gained,p.Glu287Ter,ENST00000320084,;HNRNPC,stop_gained,p.Glu274Ter,ENST00000430246,;HNRNPC,stop_gained,p.Glu274Ter,ENST00000449098,;HNRNPC,3_prime_UTR_variant,,ENST00000336053,;HNRNPC,3_prime_UTR_variant,,ENST00000556513,;HNRNPC,3_prime_UTR_variant,,ENST00000553753,;HNRNPC,3_prime_UTR_variant,,ENST00000556142,;HNRNPC,downstream_gene_variant,,ENST00000554383,;HNRNPC,downstream_gene_variant,,ENST00000555137,;HNRNPC,downstream_gene_variant,,ENST00000554891,;HNRNPC,downstream_gene_variant,,ENST00000555215,;LINC00641,upstream_gene_variant,,ENST00000555688,;HNRNPC,3_prime_UTR_variant,,ENST00000557442,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000553444,;HNRNPC,downstream_gene_variant,,ENST00000554417,;HNRNPC,downstream_gene_variant,,ENST00000555585,;	1099	109	62	SUCCESS
LTBP2	4053	.	GRCh37	14	75016623	75016623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	138	0	ENST00000261978.4:c.1732G>T	p.Gly578Cys	p.G578C	ENST00000261978	NM_000428.2	578	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9831.1	1732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCACAGC	NONE	.	.	Superfamily_domains:SSF57581,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24034:SF40,hmmpanther:PTHR24034,PROSITE_profiles:PS51364	.	.	ENSP00000261978	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,missense_variant,p.Gly578Cys,ENST00000261978,;LTBP2,missense_variant,p.Gly578Cys,ENST00000556690,;LTBP2,intron_variant,,ENST00000556359,;CTD-2207P18.1,upstream_gene_variant,,ENST00000554552,;LTBP2,non_coding_transcript_exon_variant,,ENST00000557425,;LTBP2,missense_variant,p.Gly578Cys,ENST00000553939,;	2119	138	74	SUCCESS
MLH3	27030	.	GRCh37	14	75515470	75515470	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775001669	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	101	0	ENST00000355774.2:c.889C>T	p.Arg297Trp	p.R297W	ENST00000355774	NM_001040108.1	297	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS32123.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGGTGCC	NONE	byFrequency	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7,Gene3D:3.30.230.10,Pfam_domain:PF01119,Superfamily_domains:SSF54211	.	.	ENSP00000348020	.	2/13	.	.	.	.	.	.	.	.	rs775001669	2/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	SNV	MLH3,missense_variant,p.Arg297Trp,ENST00000556257,;MLH3,missense_variant,p.Arg297Trp,ENST00000556740,;MLH3,missense_variant,p.Arg297Trp,ENST00000355774,;MLH3,missense_variant,p.Arg297Trp,ENST00000238662,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000553713,;MLH3,downstream_gene_variant,,ENST00000557648,;ACYP1,downstream_gene_variant,,ENST00000555694,;ACYP1,downstream_gene_variant,,ENST00000555463,;ACYP1,downstream_gene_variant,,ENST00000238618,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,upstream_gene_variant,,ENST00000544985,;ACYP1,downstream_gene_variant,,ENST00000357971,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	1105	101	53	SUCCESS
LYSMD4	145748	.	GRCh37	15	100269392	100269392	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	161	0	ENST00000409796.1:c.827T>A	p.Val276Asp	p.V276D	ENST00000409796	NM_001284418.1	276	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS10381.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAACTGCT	NONE	.	.	hmmpanther:PTHR20932,hmmpanther:PTHR20932:SF7	.	.	ENSP00000342840	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000344791	Transcript	.	.	ENSG00000183060	26571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.648)	.	deleterious_low_confidence(0)	.	LYSM4_HUMAN	LYSMD4	HGNC	B3KWE4_HUMAN	.	UPI000021D1F8	SNV	LYSMD4,missense_variant,p.Val276Asp,ENST00000409796,;LYSMD4,missense_variant,p.Val150Asp,ENST00000545021,;LYSMD4,missense_variant,p.Val277Asp,ENST00000344791,;LYSMD4,missense_variant,p.Val276Asp,ENST00000332728,;LYSMD4,downstream_gene_variant,,ENST00000450512,;LYSMD4,intron_variant,,ENST00000604213,;LYSMD4,intron_variant,,ENST00000496108,;LYSMD4,downstream_gene_variant,,ENST00000484050,;LYSMD4,non_coding_transcript_exon_variant,,ENST00000479791,;LYSMD4,downstream_gene_variant,,ENST00000493256,;	1103	161	123	SUCCESS
NPAP1	23742	.	GRCh37	15	24921322	24921322	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1436813379	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	34	0	ENST00000329468.2:c.308G>A	p.Arg103Gln	p.R103Q	ENST00000329468	NM_018958.2	103	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10015.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGGAACC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	COSM1372080	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.895)	.	tolerated(0.06)	1	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Arg103Gln,ENST00000329468,;	782	34	20	SUCCESS
HERC2	8924	.	GRCh37	15	28518063	28518063	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	38	0	ENST00000261609.7:c.888G>T	p.Leu296=	p.L296=	ENST00000261609	NM_004667.5	296	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10021.1	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCAGCTC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	8/93	.	.	.	.	.	.	.	.	.	8/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,synonymous_variant,p.%3D,ENST00000261609,;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,non_coding_transcript_exon_variant,,ENST00000563670,;	997	38	22	SUCCESS
HERC2P9	440248	.	GRCh37	15	28902405	28902405	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	76	0	ENST00000529624.1:n.3780G>T		p.*1260*	ENST00000529624				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	AGTTGGTGAAC	NONE	.	.	.	.	.	.	.	24/33	.	.	.	.	.	.	.	.	.	24/33	PASS	ENST00000529624	Transcript	.	.	ENSG00000206149	30495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P9	HGNC	.	.	.	SNV	HERC2P9,non_coding_transcript_exon_variant,,ENST00000528584,;HERC2P9,non_coding_transcript_exon_variant,,ENST00000530420,;HERC2P9,non_coding_transcript_exon_variant,,ENST00000529624,;HERC2P9,non_coding_transcript_exon_variant,,ENST00000383034,;HERC2P9,downstream_gene_variant,,ENST00000542073,;	3780	76	64	SUCCESS
MEIS2	4212	.	GRCh37	15	37184488	37184488	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746974524	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	94	1	ENST00000561208.1:c.1320G>T	p.Met440Ile	p.M440I	ENST00000561208		440	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10044.1	1320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGCATCAT	BUFFER|p.H441H|c.1323C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850	.	.	ENSP00000453793	.	12/12	.	.	.	.	.	.	.	.	rs746974524	12/12	PASS	ENST00000561208	Transcript	1	.	ENSG00000134138	7001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious_low_confidence(0.05)	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,missense_variant,p.Met433Ile,ENST00000338564,;MEIS2,missense_variant,p.Met433Ile,ENST00000382766,;MEIS2,missense_variant,p.Met440Ile,ENST00000561208,;MEIS2,3_prime_UTR_variant,,ENST00000424352,;MEIS2,3_prime_UTR_variant,,ENST00000219869,;MEIS2,3_prime_UTR_variant,,ENST00000397620,;MEIS2,3_prime_UTR_variant,,ENST00000397624,;MEIS2,3_prime_UTR_variant,,ENST00000340545,;MEIS2,3_prime_UTR_variant,,ENST00000444725,;MEIS2,3_prime_UTR_variant,,ENST00000559085,;MEIS2,3_prime_UTR_variant,,ENST00000557796,;MEIS2,downstream_gene_variant,,ENST00000559561,;MEIS2,downstream_gene_variant,,ENST00000607277,;MEIS2,downstream_gene_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559972,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561284,;MEIS2,downstream_gene_variant,,ENST00000559371,;MEIS2,downstream_gene_variant,,ENST00000558643,;MEIS2,downstream_gene_variant,,ENST00000557992,;	1739	95	73	SUCCESS
RTF1	23168	.	GRCh37	15	41763423	41763423	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	101	0	ENST00000389629.4:c.1079A>G	p.Asn360Ser	p.N360S	ENST00000389629	NM_015138.4	360	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32200.2	1079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGAATCGGG	NONE	.	.	PROSITE_profiles:PS51360,hmmpanther:PTHR13115,hmmpanther:PTHR13115:SF8,Pfam_domain:PF03126,SMART_domains:SM00719,Superfamily_domains:0053761	.	.	ENSP00000374280	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000389629	Transcript	.	.	ENSG00000137815	28996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.33)	.	RTF1_HUMAN	RTF1	HGNC	I7GPQ7_HUMAN	.	UPI0000E23C14	SNV	RTF1,missense_variant,p.Asn360Ser,ENST00000389629,;RTF1,upstream_gene_variant,,ENST00000560447,;RTF1,upstream_gene_variant,,ENST00000473214,;	1091	101	65	SUCCESS
MAP1A	4130	.	GRCh37	15	43819203	43819203	+	synonymous_variant	Silent	SNP	C	C	T	rs745769970	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	40	0	ENST00000300231.5:c.5532C>T	p.Pro1844=	p.P1844=	ENST00000300231		1844	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42031.1	5532	MUTECT|MUSE	.	CCACCCTGGGT	NONE	.	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	rs745769970	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,synonymous_variant,p.%3D,ENST00000399453,;MAP1A,synonymous_variant,p.%3D,ENST00000300231,;MAP1A,synonymous_variant,p.%3D,ENST00000382031,;	5982	40	44	SUCCESS
DUOXA1	90527	.	GRCh37	15	45411339	45411339	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745874216	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	91	0	ENST00000560572.1:c.997G>A	p.Glu333Lys	p.E333K	ENST00000560572	NM_001276266.1	333	Gag/Aag	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10119.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCCTTAC	NONE	byFrequency	.	.	.	.	ENSP00000267803	.	.	.	.	.	.	.	.	.	.	rs745874216	.	PASS	ENST00000267803	Transcript	.	.	ENSG00000140254	26507	.	.	LOW	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOXA1_HUMAN	DUOXA1	HGNC	H0YMZ8_HUMAN,H0YLQ4_HUMAN,A8K9Q6_HUMAN	.	UPI000006D4D4	SNV	DUOXA1,missense_variant,p.Glu288Lys,ENST00000558422,;DUOXA1,missense_variant,p.Glu288Lys,ENST00000558996,;DUOXA1,missense_variant,p.Glu333Lys,ENST00000560572,;DUOXA1,splice_region_variant,,ENST00000267803,;DUOXA1,splice_region_variant,,ENST00000559014,;DUOXA1,splice_region_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000558851,;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOXA1,downstream_gene_variant,,ENST00000558377,;DUOXA2,downstream_gene_variant,,ENST00000323030,;DUOXA1,downstream_gene_variant,,ENST00000559644,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOX2,upstream_gene_variant,,ENST00000603300,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA1,3_prime_UTR_variant,,ENST00000559013,;DUOXA2,downstream_gene_variant,,ENST00000350243,;DUOXA2,downstream_gene_variant,,ENST00000491993,;	.	91	81	SUCCESS
FBN1	2200	.	GRCh37	15	48829964	48829964	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	63	0	ENST00000316623.5:c.580A>T	p.Met194Leu	p.M194L	ENST00000316623	NM_000138.4	194	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS32232.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACATCTGGT	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Pfam_domain:PF00683,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000325527	.	7/66	.	.	.	.	.	.	.	.	.	7/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Met194Leu,ENST00000316623,;FBN1,missense_variant,p.Met194Leu,ENST00000537463,;	1036	63	67	SUCCESS
AXIN1	8312	.	GRCh37	16	348096	348097	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	64	0	ENST00000262320.3:c.1409dup	p.Leu471ProfsTer120	p.L471Pfs*120	ENST00000262320	NM_003502.3	470	atc/atTc	0	.	.	.	.	.	A	I/IX	protein_coding	YES	CCDS10405.1	1409-1410	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCAGGATGCT	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF08833	.	.	ENSP00000262320	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	insertion	AXIN1,frameshift_variant,p.Leu471ProfsTer120,ENST00000262320,;AXIN1,frameshift_variant,p.Leu471ProfsTer120,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1781-1782	64	29	SUCCESS
FBXO31	79791	.	GRCh37	16	87364936	87364936	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	43	144	1	ENST00000311635.7:c.1578C>T	p.Ala526=	p.A526=	ENST00000311635	NM_024735.3	526	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS32501.1	1578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAAGGCCTG	NONE	.	.	hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF126	.	.	ENSP00000310841	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000311635	Transcript	.	.	ENSG00000103264	16510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX31_HUMAN	FBXO31	HGNC	H3BUC7_HUMAN	.	UPI000021D235	SNV	FBXO31,synonymous_variant,p.%3D,ENST00000311635,;RP11-178L8.4,intron_variant,,ENST00000568879,;FBXO31,downstream_gene_variant,,ENST00000563113,;RP11-178L8.8,downstream_gene_variant,,ENST00000602665,;FBXO31,3_prime_UTR_variant,,ENST00000565593,;	1591	146	55	SUCCESS
JPH3	57338	.	GRCh37	16	87677929	87677929	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	29	151	1	ENST00000284262.2:c.448T>C	p.Tyr150His	p.Y150H	ENST00000284262	NM_020655.3	150	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS10962.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGTATGGC	NONE	.	.	PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF7	.	.	ENSP00000284262	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000284262	Transcript	.	.	ENSG00000154118	14203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	deleterious(0.01)	.	JPH3_HUMAN	JPH3	HGNC	B4DLY6_HUMAN,B4DIC1_HUMAN,B3KP13_HUMAN	.	UPI000012DAC4	SNV	JPH3,missense_variant,p.Tyr150His,ENST00000284262,;JPH3,non_coding_transcript_exon_variant,,ENST00000537256,;	690	153	41	SUCCESS
RHBDL3	162494	.	GRCh37	17	30616004	30616004	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	77	321	0	ENST00000269051.4:c.488C>T	p.Pro163Leu	p.P163L	ENST00000269051	NM_138328.2	163	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32613.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCCTGGT	NONE	.	.	hmmpanther:PTHR22936:SF14,hmmpanther:PTHR22936,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	.	.	ENSP00000269051	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000269051	Transcript	.	.	ENSG00000141314	16502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RHBL3_HUMAN	RHBDL3	HGNC	Q495Y4_HUMAN	.	UPI0000133858	SNV	RHBDL3,missense_variant,p.Pro65Leu,ENST00000536287,;RHBDL3,missense_variant,p.Pro155Leu,ENST00000538145,;RHBDL3,missense_variant,p.Pro163Leu,ENST00000269051,;RHBDL3,missense_variant,p.Pro163Leu,ENST00000431505,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;RHBDL3,non_coding_transcript_exon_variant,,ENST00000582967,;	502	321	176	SUCCESS
NKIRAS2	28511	.	GRCh37	17	40174597	40174597	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1555653325	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	86	0	ENST00000307641.5:c.275A>G	p.Glu92Gly	p.E92G	ENST00000307641	NM_001001349.2	92	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS11415.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGAGTCTT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF236,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	.	.	ENSP00000303580	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000307641	Transcript	.	.	ENSG00000168256	17898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	deleterious(0.01)	.	KBRS2_HUMAN	NKIRAS2	HGNC	K7ERG2_HUMAN,K7ER26_HUMAN	.	UPI00000465E5	SNV	NKIRAS2,missense_variant,p.Glu92Gly,ENST00000393880,;NKIRAS2,missense_variant,p.Glu92Gly,ENST00000307641,;NKIRAS2,missense_variant,p.Glu92Gly,ENST00000393885,;NKIRAS2,missense_variant,p.Glu90Gly,ENST00000393884,;NKIRAS2,missense_variant,p.Glu92Gly,ENST00000316082,;NKIRAS2,missense_variant,p.Glu92Gly,ENST00000393881,;NKIRAS2,missense_variant,p.Glu58Gly,ENST00000587337,;NKIRAS2,missense_variant,p.Ser60Gly,ENST00000479407,;NKIRAS2,intron_variant,,ENST00000462043,;NKIRAS2,intron_variant,,ENST00000449471,;DNAJC7,upstream_gene_variant,,ENST00000590348,;DNAJC7,upstream_gene_variant,,ENST00000591787,;NKIRAS2,downstream_gene_variant,,ENST00000585955,;DNAJC7,upstream_gene_variant,,ENST00000457167,;ZNF385C,downstream_gene_variant,,ENST00000436535,;DNAJC7,upstream_gene_variant,,ENST00000589773,;ZNF385C,downstream_gene_variant,,ENST00000461831,;NKIRAS2,3_prime_UTR_variant,,ENST00000491638,;NKIRAS2,3_prime_UTR_variant,,ENST00000485789,;NKIRAS2,non_coding_transcript_exon_variant,,ENST00000393879,;NKIRAS2,downstream_gene_variant,,ENST00000587028,;ZNF385C,downstream_gene_variant,,ENST00000496039,;	896	86	43	SUCCESS
CRHR1	1394	.	GRCh37	17	43861914	43861914	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	59	0	ENST00000398285.3:c.4G>T	p.Gly2Ter	p.G2*	ENST00000398285	NM_001145146.1	2	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS45712.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGGAGGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000381333	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,stop_gained,p.Gly2Ter,ENST00000398285,;CRHR1,stop_gained,p.Gly2Ter,ENST00000352855,;CRHR1,stop_gained,p.Gly2Ter,ENST00000577353,;CRHR1,stop_gained,p.Gly2Ter,ENST00000314537,;CRHR1,intron_variant,,ENST00000293493,;CRHR1,intron_variant,,ENST00000339069,;RP11-105N13.4,intron_variant,,ENST00000582044,;RP11-105N13.4,intron_variant,,ENST00000587305,;CRHR1,stop_gained,p.Gly2Ter,ENST00000347197,;CRHR1,upstream_gene_variant,,ENST00000582766,;	4	59	25	SUCCESS
ITGA3	3675	.	GRCh37	17	48149396	48149396	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	65	197	0	ENST00000320031.8:c.1006G>T	p.Glu336Ter	p.E336*	ENST00000320031	NM_002204.2	336	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11557.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGAGGAA	NONE	.	.	Superfamily_domains:SSF69318,SMART_domains:SM00191,Pfam_domain:PF13517,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,PROSITE_profiles:PS51470	.	.	ENSP00000007722	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000007722	Transcript	.	.	ENSG00000005884	6139	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA3_HUMAN	ITGA3	HGNC	Q86SW1_HUMAN	.	UPI0000140781	SNV	ITGA3,stop_gained,p.Glu111Ter,ENST00000544892,;ITGA3,stop_gained,p.Glu336Ter,ENST00000320031,;ITGA3,stop_gained,p.Glu336Ter,ENST00000007722,;ITGA3,intron_variant,,ENST00000512553,;ITGA3,upstream_gene_variant,,ENST00000506827,;ITGA3,3_prime_UTR_variant,,ENST00000506401,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505552,;ITGA3,upstream_gene_variant,,ENST00000510809,;ITGA3,upstream_gene_variant,,ENST00000505612,;	1006	197	144	SUCCESS
MPO	4353	.	GRCh37	17	56358134	56358134	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	142	185	1	ENST00000225275.3:c.-15C>A		p.*5*	ENST00000225275	NM_000250.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11604.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGCTGCT	NONE	.	.	.	.	.	ENSP00000225275	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,5_prime_UTR_variant,,ENST00000340482,;MPO,5_prime_UTR_variant,,ENST00000225275,;MPO,upstream_gene_variant,,ENST00000578493,;MPO,upstream_gene_variant,,ENST00000580005,;MPO,upstream_gene_variant,,ENST00000581022,;	163	186	204	SUCCESS
MED13	9969	.	GRCh37	17	60024306	60024306	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	24	111	0	ENST00000397786.2:c.6364G>C	p.Asp2122His	p.D2122H	ENST00000397786	NM_005121.2	2122	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS42366.1	6364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTCAAGTG	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950,Pfam_domain:PF06333	.	.	ENSP00000380888	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Asp2122His,ENST00000397786,;	6441	111	150	SUCCESS
USH1G	124590	.	GRCh37	17	72916210	72916210	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756539436	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	26	28	0	ENST00000319642.1:c.721G>T	p.Ala241Ser	p.A241S	ENST00000319642	NM_173477.2	241	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32725.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGCGCTCT	NONE	.	.	.	.	.	ENSP00000320076	.	2/3	.	.	.	.	.	.	.	.	rs756539436	2/3	PASS	ENST00000319642	Transcript	.	.	ENSG00000182040	16356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.18)	.	USH1G_HUMAN	USH1G	HGNC	.	.	UPI00001BC010	SNV	USH1G,missense_variant,p.Ala241Ser,ENST00000319642,;OTOP2,upstream_gene_variant,,ENST00000580223,;OTOP2,upstream_gene_variant,,ENST00000331427,;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	904	28	32	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	63	229	2	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	RADIA|SOMATICSNIPER|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	231	79	SUCCESS
LRRC45	201255	.	GRCh37	17	79988573	79988573	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	42	64	0	ENST00000306688.3:c.1905G>C	p.Glu635Asp	p.E635D	ENST00000306688	NM_144999.2	635	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS11797.1	1905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAGATCGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF3	.	.	ENSP00000306760	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000306688	Transcript	.	.	ENSG00000169683	28302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.14)	.	LRC45_HUMAN	LRRC45	HGNC	.	.	UPI000006EF33	SNV	LRRC45,missense_variant,p.Glu635Asp,ENST00000306688,;RAC3,upstream_gene_variant,,ENST00000584341,;RAC3,upstream_gene_variant,,ENST00000306897,;RAC3,upstream_gene_variant,,ENST00000580965,;DCXR,downstream_gene_variant,,ENST00000577532,;LRRC45,downstream_gene_variant,,ENST00000583302,;LRRC45,downstream_gene_variant,,ENST00000582083,;LRRC45,downstream_gene_variant,,ENST00000581227,;RAC3,upstream_gene_variant,,ENST00000585014,;	2247	64	62	SUCCESS
MYH10	4628	.	GRCh37	17	8390877	8390877	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	26	51	0	ENST00000269243.4:c.4827G>A	p.Arg1609=	p.R1609=	ENST00000269243	NM_005964.3	1609	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS58515.1	4920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCCTCTC	NONE	.	.	Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000353590	.	36/43	.	.	.	.	.	.	.	.	.	36/43	PASS	ENST00000360416	Transcript	.	.	ENSG00000133026	7568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH10_HUMAN	MYH10	HGNC	Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN	.	UPI0000E24926	SNV	MYH10,synonymous_variant,p.%3D,ENST00000396239,;MYH10,synonymous_variant,p.%3D,ENST00000269243,;MYH10,synonymous_variant,p.%3D,ENST00000379980,;MYH10,synonymous_variant,p.%3D,ENST00000360416,;NDEL1,intron_variant,,ENST00000581679,;	5059	51	37	SUCCESS
DCC	1630	.	GRCh37	18	50923774	50923774	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	78	0	ENST00000442544.2:c.2785A>T	p.Ser929Cys	p.S929C	ENST00000442544	NM_005215.3	929	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS11952.1	2785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCAGTACT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Ser564Cys,ENST00000581580,;DCC,missense_variant,p.Ser929Cys,ENST00000442544,;DCC,missense_variant,p.Ser757Cys,ENST00000412726,;DCC,missense_variant,p.Ser68Cys,ENST00000579941,;DCC,3_prime_UTR_variant,,ENST00000304775,;	3401	78	67	SUCCESS
SMARCA4	6597	.	GRCh37	19	11096863	11096863	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	23	77	0	ENST00000344626.4:c.356-2A>T		p.X119_splice	ENST00000344626	NM_003072.3	119		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGGTTA	NONE	.	.	.	.	.	ENSP00000395654	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	HIGH	4/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,splice_acceptor_variant,,ENST00000450717,;SMARCA4,splice_acceptor_variant,,ENST00000358026,;SMARCA4,splice_acceptor_variant,,ENST00000413806,;SMARCA4,splice_acceptor_variant,,ENST00000590574,;SMARCA4,splice_acceptor_variant,,ENST00000444061,;SMARCA4,splice_acceptor_variant,,ENST00000344626,;SMARCA4,splice_acceptor_variant,,ENST00000541122,;SMARCA4,splice_acceptor_variant,,ENST00000429416,;SMARCA4,splice_acceptor_variant,,ENST00000589677,;SMARCA4,splice_acceptor_variant,,ENST00000591545,;	.	77	31	SUCCESS
NDUFS7	374291	.	GRCh37	19	1395360	1395360	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	20	64	0	ENST00000233627.9:c.545-30G>A		p.*182*	ENST00000233627	NM_024407.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12063.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGGAAGC	NONE	.	.	.	.	.	ENSP00000233627	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000233627	Transcript	1	.	ENSG00000115286	7714	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUS7_HUMAN	NDUFS7	HGNC	Q7LD69_HUMAN	.	UPI000006ED2D	SNV	NDUFS7,3_prime_UTR_variant,,ENST00000313408,;NDUFS7,intron_variant,,ENST00000233627,;GAMT,downstream_gene_variant,,ENST00000447102,;NDUFS7,downstream_gene_variant,,ENST00000546283,;GAMT,downstream_gene_variant,,ENST00000591788,;NDUFS7,downstream_gene_variant,,ENST00000414651,;GAMT,downstream_gene_variant,,ENST00000252288,;NDUFS7,downstream_gene_variant,,ENST00000539480,;AC005329.7,non_coding_transcript_exon_variant,,ENST00000501448,;AC005329.7,upstream_gene_variant,,ENST00000585596,;AC005329.7,upstream_gene_variant,,ENST00000589734,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000540530,;NDUFS7,downstream_gene_variant,,ENST00000538929,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000535382,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000543289,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000591358,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000545446,;NDUFS7,intron_variant,,ENST00000534853,;NDUFS7,intron_variant,,ENST00000546172,;NDUFS7,downstream_gene_variant,,ENST00000538662,;NDUFS7,downstream_gene_variant,,ENST00000436115,;NDUFS7,downstream_gene_variant,,ENST00000538523,;	.	64	25	SUCCESS
PLD3	23646	.	GRCh37	19	40872522	40872522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	22	63	0	ENST00000356508.5:c.33G>T	p.Lys11Asn	p.K11N	ENST00000356508	NM_001031696.2	11	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS33027.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGTGCC	NONE	.	.	hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16	.	.	ENSP00000387050	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000409587	Transcript	.	.	ENSG00000105223	17158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated_low_confidence(0.11)	.	PLD3_HUMAN	PLD3	HGNC	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN	.	UPI000004FA75	SNV	PLD3,missense_variant,p.Lys11Asn,ENST00000598962,;PLD3,missense_variant,p.Lys11Asn,ENST00000594908,;PLD3,missense_variant,p.Lys11Asn,ENST00000602131,;PLD3,missense_variant,p.Lys11Asn,ENST00000409419,;PLD3,missense_variant,p.Lys11Asn,ENST00000359274,;PLD3,missense_variant,p.Lys11Asn,ENST00000409587,;PLD3,missense_variant,p.Lys11Asn,ENST00000409735,;PLD3,missense_variant,p.Lys11Asn,ENST00000599685,;PLD3,missense_variant,p.Lys11Asn,ENST00000409281,;PLD3,missense_variant,p.Lys11Asn,ENST00000392032,;PLD3,missense_variant,p.Lys11Asn,ENST00000600948,;PLD3,missense_variant,p.Lys11Asn,ENST00000596682,;PLD3,missense_variant,p.Lys11Asn,ENST00000356508,;PLD3,upstream_gene_variant,,ENST00000599353,;PLD3,downstream_gene_variant,,ENST00000600479,;PLD3,downstream_gene_variant,,ENST00000594085,;PLD3,non_coding_transcript_exon_variant,,ENST00000493006,;PLD3,non_coding_transcript_exon_variant,,ENST00000485448,;PLD3,non_coding_transcript_exon_variant,,ENST00000464586,;PLD3,upstream_gene_variant,,ENST00000475983,;PLD3,upstream_gene_variant,,ENST00000492243,;PLD3,upstream_gene_variant,,ENST00000480030,;	430	63	39	SUCCESS
SRRM5	100170229	.	GRCh37	19	44116304	44116304	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs891180552	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	61	269	0	ENST00000417606.1:c.31A>G	p.Ser11Gly	p.S11G	ENST00000417606	NM_001145641.1	11	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS46095.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGTATG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000476253	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000607544	Transcript	.	.	ENSG00000226763	37248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	tolerated(0.94)	.	SRRM5_HUMAN	SRRM5	HGNC	.	.	UPI000059D73E	SNV	SRRM5,missense_variant,p.Ser26Gly,ENST00000526798,;SRRM5,missense_variant,p.Ser11Gly,ENST00000417606,;SRRM5,missense_variant,p.Ser11Gly,ENST00000607544,;ZNF428,intron_variant,,ENST00000598676,;ZNF428,intron_variant,,ENST00000300811,;ZNF428,downstream_gene_variant,,ENST00000595304,;	353	269	178	SUCCESS
ZNF223	7766	.	GRCh37	19	44571032	44571032	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	111	0	ENST00000434772.3:c.1051A>G	p.Lys351Glu	p.K351E	ENST00000434772	NM_013361.4	351	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12635.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGAAGAGC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF29,PROSITE_profiles:PS50157	.	.	ENSP00000401947	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434772	Transcript	.	.	ENSG00000178386	13016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN223_HUMAN	ZNF223	HGNC	K7EQ32_HUMAN	.	UPI00002025B5	SNV	ZNF223,missense_variant,p.Lys351Glu,ENST00000434772,;ZNF223,downstream_gene_variant,,ENST00000591850,;ZNF223,missense_variant,p.Lys461Glu,ENST00000591793,;ZNF223,downstream_gene_variant,,ENST00000593088,;	1306	111	87	SUCCESS
VASP	7408	.	GRCh37	19	46021343	46021343	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	139	0	ENST00000245932.6:c.334G>T	p.Ala112Ser	p.A112S	ENST00000245932	NM_003370.3	112	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33051.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGCGTTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50229,hmmpanther:PTHR11202:SF12,hmmpanther:PTHR11202,Gene3D:2.30.29.30,PIRSF_domain:PIRSF038010,Superfamily_domains:SSF50729	.	.	ENSP00000245932	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000245932	Transcript	.	.	ENSG00000125753	12652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	VASP_HUMAN	VASP	HGNC	K7ENR7_HUMAN	.	UPI0000001C69	SNV	VASP,missense_variant,p.Ala112Ser,ENST00000245932,;VASP,intron_variant,,ENST00000590603,;VASP,intron_variant,,ENST00000592139,;VASP,downstream_gene_variant,,ENST00000589627,;VASP,non_coding_transcript_exon_variant,,ENST00000586619,;VASP,intron_variant,,ENST00000586014,;VASP,upstream_gene_variant,,ENST00000590459,;VASP,upstream_gene_variant,,ENST00000588482,;VASP,upstream_gene_variant,,ENST00000588463,;	690	139	62	SUCCESS
PPP2R1A	5518	.	GRCh37	19	52714742	52714742	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	34	0	ENST00000322088.6:c.500G>A	p.Arg167Gln	p.R167Q	ENST00000322088	NM_014225.5	167	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12849.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCGACAGT	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000324804	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000322088	Transcript	1	.	ENSG00000105568	9302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	2AAA_HUMAN	PPP2R1A	HGNC	B4DDF7_HUMAN,B3KQV6_HUMAN,A8K7B7_HUMAN	.	UPI000006EB9C	SNV	PPP2R1A,missense_variant,p.Arg207Gln,ENST00000454220,;PPP2R1A,missense_variant,p.Arg112Gln,ENST00000444322,;PPP2R1A,missense_variant,p.Arg167Gln,ENST00000322088,;PPP2R1A,5_prime_UTR_variant,,ENST00000462990,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473455,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000468280,;PPP2R1A,downstream_gene_variant,,ENST00000490868,;PPP2R1A,upstream_gene_variant,,ENST00000473820,;PPP2R1A,upstream_gene_variant,,ENST00000462047,;	558	34	38	SUCCESS
ZNF534	147658	.	GRCh37	19	52941617	52941617	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	114	0	ENST00000332323.6:c.943G>T	p.Glu315Ter	p.E315*	ENST00000332323	NM_001143939.1	315	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS46165.1	943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTGAATGT	BUFFER|p.E315A|c.944A>C|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000327538	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332323	Transcript	.	.	ENSG00000198633	26337	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN534_HUMAN	ZNF534	HGNC	.	.	UPI0000351984	SNV	ZNF534,stop_gained,p.Glu315Ter,ENST00000332323,;ZNF534,stop_gained,p.Glu302Ter,ENST00000433050,;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,;	1004	114	80	SUCCESS
COL11A1	1301	.	GRCh37	1	103478004	103478004	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	135	125	0	ENST00000370096.3:c.1594G>C	p.Gly532Arg	p.G532R	ENST00000370096	NM_001854.3	532	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS778.1	1594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCAGGTG	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000359114	.	14/67	.	.	.	.	.	.	.	.	COSM1294635,COSM1294636	14/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	.	1,1	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly416Arg,ENST00000512756,;COL11A1,missense_variant,p.Gly493Arg,ENST00000353414,;COL11A1,missense_variant,p.Gly544Arg,ENST00000427239,;COL11A1,missense_variant,p.Gly532Arg,ENST00000370096,;COL11A1,missense_variant,p.Gly544Arg,ENST00000358392,;COL11A1,upstream_gene_variant,,ENST00000461720,;	1907	125	186	SUCCESS
NBPF10	100132406	.	GRCh37	1	145359172	145359172	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782614701	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	96	0	ENST00000342960.5:c.9112G>T	p.Ala3038Ser	p.A3038S	ENST00000342960	NM_001039703.5	3038	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	9112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGCTGTT	BUFFER|p.L3037M|c.9109T>A|11	byFrequency	.	PROSITE_profiles:PS51316,Pfam_domain:PF06758	.	.	ENSP00000345684	.	72/84	.	.	.	.	.	.	.	.	rs782614701	72/84	PASS	ENST00000342960	Transcript	.	.	ENSG00000163386	31992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	.	.	.	NBPF10	HGNC	S4R3H5_HUMAN,A6NDV3_HUMAN	.	UPI0001CE93AE	SNV	NBPF10,missense_variant,p.Ala3038Ser,ENST00000342960,;NBPF10,intron_variant,,ENST00000605176,;NBPF10,intron_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369339,;NBPF10,intron_variant,,ENST00000369338,;NBPF10,intron_variant,,ENST00000490598,;	9147	96	61	SUCCESS
ATP13A2	23400	.	GRCh37	1	17331929	17331929	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	30	198	0	ENST00000326735.8:c.228G>T	p.Arg76=	p.R76=	ENST00000326735		76	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS175.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCCGCAG	NONE	.	.	hmmpanther:PTHR24093:SF86,hmmpanther:PTHR24093,Pfam_domain:PF12409,TIGRFAM_domain:TIGR01657	.	.	ENSP00000327214	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000326735	Transcript	.	.	ENSG00000159363	30213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT132_HUMAN	ATP13A2	HGNC	Q8N4D4_HUMAN	.	UPI0000049724	SNV	ATP13A2,synonymous_variant,p.%3D,ENST00000509619,;ATP13A2,synonymous_variant,p.%3D,ENST00000452699,;ATP13A2,synonymous_variant,p.%3D,ENST00000341676,;ATP13A2,synonymous_variant,p.%3D,ENST00000326735,;ATP13A2,synonymous_variant,p.%3D,ENST00000510069,;ATP13A2,upstream_gene_variant,,ENST00000508222,;ATP13A2,upstream_gene_variant,,ENST00000511957,;RP1-37C10.3,downstream_gene_variant,,ENST00000446261,;ATP13A2,upstream_gene_variant,,ENST00000463860,;	262	198	167	SUCCESS
SEC16B	89866	.	GRCh37	1	177934193	177934193	+	synonymous_variant	Silent	SNP	C	C	T	rs564535526	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	76	99	0	ENST00000308284.6:c.522G>A	p.Glu174=	p.E174=	ENST00000308284	NM_033127.2	174	gaG/gaA	0	.	G:0	.	G:0	.	T	E	protein_coding	YES	CCDS44281.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTCTCACT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13402:SF8,hmmpanther:PTHR13402	G:0	.	ENSP00000308339	G:0	4/26	.	.	.	.	.	.	.	.	rs564535526	4/26	PASS	ENST00000308284	Transcript	.	G:0.0012	ENSG00000120341	30301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0061	.	.	SC16B_HUMAN	SEC16B	HGNC	.	.	UPI0000203C4D	SNV	SEC16B,synonymous_variant,p.%3D,ENST00000464631,;SEC16B,synonymous_variant,p.%3D,ENST00000308284,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,synonymous_variant,p.%3D,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;	612	99	103	SUCCESS
CFHR5	81494	.	GRCh37	1	196946711	196946711	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs753285642	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	15	98	0	ENST00000256785.4:c.-84T>G		p.*28*	ENST00000256785				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1387.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTTGTAA	NONE	.	.	.	.	.	ENSP00000256785	.	1/10	.	.	.	.	.	.	.	.	rs753285642	1/10	PASS	ENST00000256785	Transcript	.	.	ENSG00000134389	24668	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FHR5_HUMAN	CFHR5	HGNC	.	.	UPI0000043814	SNV	CFHR5,5_prime_UTR_variant,,ENST00000367414,;CFHR5,5_prime_UTR_variant,,ENST00000256785,;	26	98	118	SUCCESS
ADORA1	134	.	GRCh37	1	203097959	203097959	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	33	54	1	ENST00000309502.3:c.-11C>T		p.*4*	ENST00000309502				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1434.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCTGTGC	NONE	.	.	.	.	.	ENSP00000356205	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000367236	Transcript	.	.	ENSG00000163485	262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AA1R_HUMAN	ADORA1	HGNC	.	.	UPI00000503E1	SNV	ADORA1,5_prime_UTR_variant,,ENST00000309502,;ADORA1,5_prime_UTR_variant,,ENST00000367236,;ADORA1,5_prime_UTR_variant,,ENST00000337894,;ADORA1,5_prime_UTR_variant,,ENST00000367235,;RP11-335O13.7,upstream_gene_variant,,ENST00000421055,;ADORA1,upstream_gene_variant,,ENST00000464019,;	911	55	43	SUCCESS
RYR2	6262	.	GRCh37	1	237850763	237850763	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	96	0	ENST00000366574.2:c.9026G>T	p.Cys3009Phe	p.C3009F	ENST00000366574	NM_001035.2	3009	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS55691.1	9026	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGCAAAC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	63/105	.	.	.	.	.	.	.	.	.	63/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.959)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Cys2993Phe,ENST00000542537,;RYR2,missense_variant,p.Cys3009Phe,ENST00000366574,;RYR2,missense_variant,p.Cys3007Phe,ENST00000360064,;RYR2,intron_variant,,ENST00000609119,;	9343	96	79	SUCCESS
SDCCAG8	10806	.	GRCh37	1	243437866	243437866	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1448996546	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	19	146	0	ENST00000366541.3:c.328A>G	p.Thr110Ala	p.T110A	ENST00000366541	NM_006642.3	110	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS31075.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAACCAAT	NONE	.	.	.	.	.	ENSP00000355499	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000366541	Transcript	.	.	ENSG00000054282	10671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.86)	.	SDCG8_HUMAN	SDCCAG8	HGNC	A6NCS9_HUMAN	.	UPI000000D77E	SNV	SDCCAG8,missense_variant,p.Thr110Ala,ENST00000355875,;SDCCAG8,missense_variant,p.Thr110Ala,ENST00000391846,;SDCCAG8,missense_variant,p.Thr110Ala,ENST00000366541,;SDCCAG8,intron_variant,,ENST00000343783,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000482234,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000490065,;SDCCAG8,downstream_gene_variant,,ENST00000491888,;	446	146	132	SUCCESS
OR2T27	403239	.	GRCh37	1	248813752	248813752	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	86	331	0	ENST00000344889.3:c.434T>C	p.Val145Ala	p.V145A	ENST00000344889	NM_001001824.1	145	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31124.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCACAATC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344889	Transcript	.	.	ENSG00000187701	31252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.63)	.	O2T27_HUMAN	OR2T27	HGNC	.	.	UPI000004F239	SNV	OR2T27,missense_variant,p.Val145Ala,ENST00000344889,;	434	331	153	SUCCESS
LAPTM5	7805	.	GRCh37	1	31208055	31208055	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370275111	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	84	0	ENST00000294507.3:c.664G>T	p.Val222Leu	p.V222L	ENST00000294507	NM_006762.2	222	Gtg/Ttg	0	T:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS337.1	664	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACCGAGT	NONE	byFrequency|byCluster	.	TIGRFAM_domain:TIGR00799,Pfam_domain:PF03821,hmmpanther:PTHR12479:SF2,hmmpanther:PTHR12479	.	T:0.0001	ENSP00000294507	.	7/8	.	.	.	.	.	.	.	.	rs370275111	7/8	PASS	ENST00000294507	Transcript	.	.	ENSG00000162511	29612	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.28)	.	LAPM5_HUMAN	LAPTM5	HGNC	Q5TBB8_HUMAN	.	UPI000012E20A	SNV	LAPTM5,missense_variant,p.Val222Leu,ENST00000294507,;MIR4420,downstream_gene_variant,,ENST00000583944,;LAPTM5,non_coding_transcript_exon_variant,,ENST00000464569,;	739	84	83	SUCCESS
LCK	3932	.	GRCh37	1	32741654	32741654	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	104	120	0	ENST00000336890.5:c.621C>A	p.Arg207=	p.R207=	ENST00000336890	NM_005356.3	207	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS359.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGCCATTA	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000337825	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000336890	Transcript	.	.	ENSG00000182866	6524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCK_HUMAN	LCK	HGNC	F8W6B9_HUMAN,B3KUV3_HUMAN	.	UPI0000151F17	SNV	LCK,synonymous_variant,p.%3D,ENST00000495610,;LCK,synonymous_variant,p.%3D,ENST00000373557,;LCK,synonymous_variant,p.%3D,ENST00000333070,;LCK,synonymous_variant,p.%3D,ENST00000336890,;LCK,synonymous_variant,p.%3D,ENST00000373564,;LCK,downstream_gene_variant,,ENST00000373562,;LCK,downstream_gene_variant,,ENST00000477031,;LCK,downstream_gene_variant,,ENST00000461712,;LCK,downstream_gene_variant,,ENST00000482949,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000469956,;LCK,downstream_gene_variant,,ENST00000476457,;LCK,downstream_gene_variant,,ENST00000355928,;	759	120	140	SUCCESS
LCK	3932	.	GRCh37	1	32741655	32741655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	104	118	0	ENST00000336890.5:c.622C>A	p.His208Asn	p.H208N	ENST00000336890	NM_005356.3	208	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS359.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCCATTAC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000337825	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000336890	Transcript	.	.	ENSG00000182866	6524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	deleterious(0.01)	.	LCK_HUMAN	LCK	HGNC	F8W6B9_HUMAN,B3KUV3_HUMAN	.	UPI0000151F17	SNV	LCK,missense_variant,p.His208Asn,ENST00000495610,;LCK,missense_variant,p.His252Asn,ENST00000373557,;LCK,missense_variant,p.His208Asn,ENST00000333070,;LCK,missense_variant,p.His208Asn,ENST00000336890,;LCK,missense_variant,p.His266Asn,ENST00000373564,;LCK,downstream_gene_variant,,ENST00000373562,;LCK,downstream_gene_variant,,ENST00000477031,;LCK,downstream_gene_variant,,ENST00000461712,;LCK,downstream_gene_variant,,ENST00000482949,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000469956,;LCK,downstream_gene_variant,,ENST00000476457,;LCK,downstream_gene_variant,,ENST00000355928,;	760	118	141	SUCCESS
HECTD3	79654	.	GRCh37	1	45469577	45469577	+	synonymous_variant	Silent	SNP	C	C	T	rs373641285	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	46	153	0	ENST00000372172.4:c.2379G>A	p.Thr793=	p.T793=	ENST00000372172	NM_024602.5	793	acG/acA	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS41318.1	2379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCCGTGAC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,PROSITE_profiles:PS50237	.	T:0.0001	ENSP00000361245	.	19/21	.	.	.	.	.	.	.	.	rs373641285	19/21	PASS	ENST00000372172	Transcript	.	.	ENSG00000126107	26117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECD3_HUMAN	HECTD3	HGNC	A1A4G1_HUMAN	.	UPI0000204F79	SNV	HECTD3,synonymous_variant,p.%3D,ENST00000372172,;HECTD3,synonymous_variant,p.%3D,ENST00000372168,;HECTD3,non_coding_transcript_exon_variant,,ENST00000486132,;HECTD3,non_coding_transcript_exon_variant,,ENST00000486296,;HECTD3,downstream_gene_variant,,ENST00000484564,;HECTD3,downstream_gene_variant,,ENST00000466423,;HECTD3,downstream_gene_variant,,ENST00000487488,;	2451	153	167	SUCCESS
SOGA1	140710	.	GRCh37	20	35437004	35437004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	63	0	ENST00000237536.4:c.2726T>C	p.Phe909Ser	p.F909S	ENST00000237536	NM_080627.2	909	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS54459.1	2726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGAAGTTG	NONE	.	.	hmmpanther:PTHR15742:SF1,hmmpanther:PTHR15742	.	.	ENSP00000237536	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0.01)	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,missense_variant,p.Phe909Ser,ENST00000237536,;SOGA1,missense_variant,p.Phe671Ser,ENST00000279034,;SOGA1,missense_variant,p.Phe671Ser,ENST00000357779,;SOGA1,missense_variant,p.Phe512Ser,ENST00000456801,;SOGA1,missense_variant,p.Phe523Ser,ENST00000465671,;	3068	63	43	SUCCESS
WFDC3	140686	.	GRCh37	20	44403077	44403077	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1424144931	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	61	0	ENST00000243938.4:c.686C>T	p.Pro229Leu	p.P229L	ENST00000243938	NM_080614.1	229	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33478.1	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGGGATC	NONE	.	.	hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28	.	.	ENSP00000243938	.	7/7	.	.	.	.	.	.	.	.	COSM1027273	7/7	PASS	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated_low_confidence(0.1)	1	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,missense_variant,p.Pro135Leu,ENST00000372632,;WFDC3,missense_variant,p.Pro229Leu,ENST00000243938,;WFDC3,missense_variant,p.Pro223Leu,ENST00000337205,;WFDC3,missense_variant,p.Pro92Leu,ENST00000372630,;RNU6ATAC38P,upstream_gene_variant,,ENST00000408119,;WFDC3,non_coding_transcript_exon_variant,,ENST00000471401,;WFDC3,non_coding_transcript_exon_variant,,ENST00000474942,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000493693,;WFDC3,non_coding_transcript_exon_variant,,ENST00000481847,;WFDC3,non_coding_transcript_exon_variant,,ENST00000462017,;WFDC3,downstream_gene_variant,,ENST00000467679,;WFDC3,downstream_gene_variant,,ENST00000490877,;	770	61	47	SUCCESS
PREX1	57580	.	GRCh37	20	47342858	47342858	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	55	171	0	ENST00000371941.3:c.590A>T	p.Gln197Leu	p.Q197L	ENST00000371941	NM_020820.3	197	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13410.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTGGATC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,PROSITE_patterns:PS00741,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000361009	.	5/40	.	.	.	.	.	.	.	.	.	5/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Gln197Leu,ENST00000396220,;PREX1,missense_variant,p.Gln197Leu,ENST00000371941,;	613	171	118	SUCCESS
TSHZ2	128553	.	GRCh37	20	51872915	51872915	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201353411	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	39	120	1	ENST00000371497.5:c.2918G>T	p.Arg973Leu	p.R973L	ENST00000371497	NM_173485.5	973	cGg/cTg	0	C:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS33490.1	2918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGGGTAT	BUFFER|p.S975L|c.2924C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487,Pfam_domain:PF12756	.	C:0	ENSP00000360552	.	2/3	.	.	.	.	.	.	.	.	rs201353411,COSM366391	2/3	PASS	ENST00000371497	Transcript	.	.	ENSG00000182463	13010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.843)	.	deleterious(0.01)	0,1	TSH2_HUMAN	TSHZ2	HGNC	S4R3C8_HUMAN	.	UPI0000206747	SNV	TSHZ2,missense_variant,p.Arg970Leu,ENST00000603338,;TSHZ2,missense_variant,p.Arg973Leu,ENST00000371497,;TSHZ2,missense_variant,p.Arg970Leu,ENST00000329613,;RP4-678D15.1,non_coding_transcript_exon_variant,,ENST00000606932,;TSHZ2,missense_variant,p.Arg133Leu,ENST00000605656,;	3805	121	118	SUCCESS
NPEPL1	79716	.	GRCh37	20	57288476	57288476	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	143	0	ENST00000356091.6:c.1002G>A		p.X334_splice	ENST00000356091	NM_024663.3	334	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS46621.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGACGGT	NONE	.	.	hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187,Prints_domain:PR00481	.	.	ENSP00000348395	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000356091	Transcript	.	.	ENSG00000215440	16244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEPL1_HUMAN	NPEPL1	HGNC	H0UI76_HUMAN	.	UPI000036789E	SNV	NPEPL1,synonymous_variant,p.%3D,ENST00000525817,;NPEPL1,synonymous_variant,p.%3D,ENST00000525967,;NPEPL1,synonymous_variant,p.%3D,ENST00000356091,;RP11-261P9.4,downstream_gene_variant,,ENST00000530479,;NPEPL1,splice_region_variant,,ENST00000533788,;NPEPL1,splice_region_variant,,ENST00000527587,;STX16-NPEPL1,splice_region_variant,,ENST00000530122,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527081,;NPEPL1,upstream_gene_variant,,ENST00000532531,;NPEPL1,upstream_gene_variant,,ENST00000525068,;	1290	143	114	SUCCESS
ADAMTS1	9510	.	GRCh37	21	28217002	28217002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	75	0	ENST00000284984.3:c.272C>A	p.Pro91His	p.P91H	ENST00000284984	NM_006988.3	91	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS33524.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGGGCCGC	NONE	.	.	hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF01562	.	.	ENSP00000284984	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000284984	Transcript	.	.	ENSG00000154734	217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	ATS1_HUMAN	ADAMTS1	HGNC	E5RI60_HUMAN	.	UPI000013DDC6	SNV	ADAMTS1,missense_variant,p.Pro91His,ENST00000284984,;ADAMTS1,upstream_gene_variant,,ENST00000517452,;ADAMTS1,upstream_gene_variant,,ENST00000517777,;ADAMTS1,upstream_gene_variant,,ENST00000451462,;ADAMTS1,upstream_gene_variant,,ENST00000464589,;ADAMTS1,upstream_gene_variant,,ENST00000492656,;	727	75	52	SUCCESS
SYNJ1	8867	.	GRCh37	21	34100328	34100328	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	8	11	0	ENST00000433931.2:c.24G>T	p.Trp8Cys	p.W8C	ENST00000433931	NM_003895.3	8	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33539.2	24	RADIA|MUTECT	.	CCGCTCCAGCA	NONE	.	.	.	.	.	ENSP00000409667	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	SNV	SYNJ1,missense_variant,p.Trp8Cys,ENST00000382499,;SYNJ1,missense_variant,p.Trp8Cys,ENST00000433931,;SYNJ1,upstream_gene_variant,,ENST00000382491,;SYNJ1,upstream_gene_variant,,ENST00000357345,;SYNJ1,upstream_gene_variant,,ENST00000429236,;SYNJ1,upstream_gene_variant,,ENST00000322229,;SYNJ1,upstream_gene_variant,,ENST00000456084,;PAXBP1-AS1,upstream_gene_variant,,ENST00000455170,;PAXBP1-AS1,upstream_gene_variant,,ENST00000458479,;PAXBP1-AS1,upstream_gene_variant,,ENST00000440052,;	32	11	9	SUCCESS
C21orf33	0	.	GRCh37	21	45553548	45553548	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	101	0	ENST00000291577.6:c.-32C>T		p.*11*	ENST00000291577	NM_004649.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33580.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCGTGAC	NONE	.	.	.	.	.	ENSP00000291577	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000291577	Transcript	.	.	ENSG00000160221	1273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ES1_HUMAN	C21orf33	HGNC	.	.	UPI0000169D5E	SNV	C21orf33,5_prime_UTR_variant,,ENST00000291577,;C21orf33,5_prime_UTR_variant,,ENST00000427803,;C21orf33,upstream_gene_variant,,ENST00000449622,;C21orf33,upstream_gene_variant,,ENST00000389690,;C21orf33,upstream_gene_variant,,ENST00000348499,;C21orf33,upstream_gene_variant,,ENST00000419699,;PWP2,downstream_gene_variant,,ENST00000291576,;C21orf33,non_coding_transcript_exon_variant,,ENST00000493883,;C21orf33,non_coding_transcript_exon_variant,,ENST00000495007,;C21orf33,upstream_gene_variant,,ENST00000470545,;C21orf33,upstream_gene_variant,,ENST00000488392,;C21orf33,upstream_gene_variant,,ENST00000480786,;	62	101	72	SUCCESS
DIP2A	23181	.	GRCh37	21	47952072	47952072	+	synonymous_variant	Silent	SNP	G	G	T	rs753316767	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	71	139	0	ENST00000417564.2:c.1227G>T	p.Val409=	p.V409=	ENST00000417564		409	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46655.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGATGTT	NONE	byFrequency	.	hmmpanther:PTHR22754:SF24,hmmpanther:PTHR22754,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000392066	.	10/38	.	.	.	.	.	.	.	.	rs753316767	10/38	PASS	ENST00000417564	Transcript	.	.	ENSG00000160305	17217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIP2A_HUMAN	DIP2A	HGNC	Q9NSX6_HUMAN,Q96NX2_HUMAN	.	UPI00001B2E47	SNV	DIP2A,synonymous_variant,p.%3D,ENST00000427143,;DIP2A,synonymous_variant,p.%3D,ENST00000318711,;DIP2A,synonymous_variant,p.%3D,ENST00000435722,;DIP2A,synonymous_variant,p.%3D,ENST00000400274,;DIP2A,synonymous_variant,p.%3D,ENST00000457905,;DIP2A,synonymous_variant,p.%3D,ENST00000417564,;DIP2A,synonymous_variant,p.%3D,ENST00000466639,;Metazoa_SRP,upstream_gene_variant,,ENST00000607098,;DIP2A,non_coding_transcript_exon_variant,,ENST00000473752,;DIP2A,non_coding_transcript_exon_variant,,ENST00000494435,;	1248	139	116	SUCCESS
NEFH	4744	.	GRCh37	22	29886676	29886676	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	38	71	0	ENST00000310624.6:c.3047C>A	p.Ala1016Asp	p.A1016D	ENST00000310624	NM_021076.3	1016	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13858.1	3047	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAAGGCCGCCA	NONE	.	.	hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214	.	.	ENSP00000311997	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310624	Transcript	.	.	ENSG00000100285	7737	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	NFH_HUMAN	NEFH	HGNC	.	.	UPI00001AEF71	SNV	NEFH,missense_variant,p.Ala1016Asp,ENST00000310624,;	3080	71	62	SUCCESS
CDC42EP1	11135	.	GRCh37	22	37964608	37964608	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs568152455	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	123	0	ENST00000249014.4:c.957G>T	p.Arg319Ser	p.R319S	ENST00000249014	NM_152243.2	319	agG/agT	0	.	A:0.0008	.	A:0	.	T	R/S	protein_coding	YES	CCDS13949.1	957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGCACTG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15344:SF7,hmmpanther:PTHR15344	A:0	.	ENSP00000249014	A:0	3/3	.	.	.	.	.	.	.	.	rs568152455	3/3	PASS	ENST00000249014	Transcript	.	A:0.0002	ENSG00000128283	17014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	deleterious(0.02)	.	BORG5_HUMAN	CDC42EP1	HGNC	B0QYC8_HUMAN,B0QYC7_HUMAN,B0QYC6_HUMAN	.	UPI000012F5E7	SNV	CDC42EP1,missense_variant,p.Arg319Ser,ENST00000249014,;CDC42EP1,downstream_gene_variant,,ENST00000434728,;LGALS2,downstream_gene_variant,,ENST00000416480,;CDC42EP1,downstream_gene_variant,,ENST00000415670,;LGALS2,downstream_gene_variant,,ENST00000215886,;CDC42EP1,downstream_gene_variant,,ENST00000430687,;	1377	123	66	SUCCESS
KCNJ4	3761	.	GRCh37	22	38823369	38823377	+	inframe_deletion	In_Frame_Del	DEL	ACACCAGGA	ACACCAGGA	-	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	ACACCAGGA	ACACCAGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	99	26	167	0	ENST00000303592.3:c.761_769del	p.Phe254_Val256del	p.F254_V256del	ENST00000303592	NM_152868.2	254	tTCCTGGTGTcg/tcg	0	.	.	.	.	.	-	FLVS/S	protein_coding	YES	CCDS13971.1	761-769	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCGACACCAGGAAGATG	NONE	.	.	hmmpanther:PTHR11767:SF13,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000306497	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303592	Transcript	.	.	ENSG00000168135	6265	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRK4_HUMAN	KCNJ4	HGNC	Q58F07_HUMAN	.	UPI000012D89B	deletion	KCNJ4,inframe_deletion,p.Phe254_Val256del,ENST00000303592,;RP3-434P1.6,downstream_gene_variant,,ENST00000433230,;	1020-1028	167	125	SUCCESS
CELSR1	9620	.	GRCh37	22	46932253	46932253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	125	1	ENST00000262738.3:c.815C>A	p.Thr272Asn	p.T272N	ENST00000262738	NM_014246.1	272	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS14076.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGGTGTAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268	.	.	ENSP00000262738	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	deleterious(0.01)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Thr272Asn,ENST00000262738,;CELSR1,missense_variant,p.Thr272Asn,ENST00000395964,;CELSR1,upstream_gene_variant,,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	815	126	63	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105886085	105886085	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	90	0	ENST00000258449.1:c.2050C>T	p.His684Tyr	p.H684Y	ENST00000258449	NM_001142621.1	684	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS2067.1	2050	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GATATGCAGCG	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00637	.	.	ENSP00000377027	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.317)	.	deleterious(0.02)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.His684Tyr,ENST00000393359,;TGFBRAP1,missense_variant,p.His684Tyr,ENST00000258449,;AC012360.2,upstream_gene_variant,,ENST00000595531,;	2477	90	77	SUCCESS
RANBP2	5903	.	GRCh37	2	109369518	109369519	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	472	71	570	0	ENST00000283195.6:c.1820_1821delinsT	p.Lys607IlefsTer7	p.K607Ifs*7	ENST00000283195	NM_006267.4	607	aAG/aT	0	.	.	.	.	.	T	K/X	protein_coding	YES	CCDS2079.1	1820-1821	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ATTGGAAGAAAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	substitution	RANBP2,frameshift_variant,p.Lys607IlefsTer7,ENST00000283195,;RANBP2,non_coding_transcript_exon_variant,,ENST00000495506,;	1946-1947	570	543	SUCCESS
POTEF	728378	.	GRCh37	2	130832599	130832599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs532998196	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	211	488	1	ENST00000357462.5:c.2446C>T	p.Arg816Cys	p.R816C	ENST00000357462		816	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS46409.1	2446	RADIA|SOMATICSNIPER|VARSCANS	.	CTCGCGGTTGG	CODON|p.R816H|c.2447G>A|3	by1000G	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,PROSITE_patterns:PS01132,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	A:0.001	.	ENSP00000350052	A:0	15/15	.	.	.	.	.	.	.	.	rs532998196,COSM1613384	15/15	PASS	ENST00000357462	Transcript	.	A:0.0002	ENSG00000196604	33905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.944)	A:0	deleterious_low_confidence(0)	0,1	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,missense_variant,p.Arg816Cys,ENST00000357462,;POTEF,missense_variant,p.Arg816Cys,ENST00000409914,;POTEF,downstream_gene_variant,,ENST00000361163,;POTEF,downstream_gene_variant,,ENST00000360967,;	2540	489	412	SUCCESS
LCT	3938	.	GRCh37	2	136579639	136579639	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777884106	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	68	0	ENST00000264162.2:c.937G>A	p.Gly313Arg	p.G313R	ENST00000264162	NM_002299.2	313	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2178.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCCAATGG	NONE	.	.	.	.	.	ENSP00000264162	.	5/17	.	.	.	.	.	.	.	.	rs777884106	5/17	PASS	ENST00000264162	Transcript	.	.	ENSG00000115850	6530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	LPH_HUMAN	LCT	HGNC	.	.	UPI000013D4D2	SNV	LCT,missense_variant,p.Gly313Arg,ENST00000264162,;AC011893.3,non_coding_transcript_exon_variant,,ENST00000437007,;	948	68	68	SUCCESS
THSD7B	80731	.	GRCh37	2	137988760	137988760	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	46	160	1	ENST00000272643.3:c.1870G>A	p.Gly624Arg	p.G624R	ENST00000272643		624	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	.	1870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGGGAAA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000272643	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Gly624Arg,ENST00000409968,;THSD7B,missense_variant,p.Gly593Arg,ENST00000413152,;THSD7B,missense_variant,p.Gly624Arg,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;	1870	161	141	SUCCESS
TTN	7273	.	GRCh37	2	179463972	179463972	+	synonymous_variant	Silent	SNP	G	G	A	rs773730675	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	46	114	0	ENST00000591111.1:c.51625C>T	p.Leu17209=	p.L17209=	ENST00000591111		17209	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59435.1	56548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGCAATT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	290/363	.	.	.	.	.	.	.	.	rs773730675	290/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,upstream_gene_variant,,ENST00000589487,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;	56773	114	100	SUCCESS
TTN	7273	.	GRCh37	2	179665290	179665290	+	synonymous_variant	Silent	SNP	G	G	T	rs752970602	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	48	97	0	ENST00000591111.1:c.415C>A	p.Arg139=	p.R139=	ENST00000591111		139	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS59435.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGGTAGA	BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	4/363	.	.	.	.	.	.	.	.	COSM1231201,COSM1231200,COSM1231197,COSM1231199,COSM1231198,COSM1231202	4/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	.	.	.	.	1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000360870,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;	640	97	124	SUCCESS
MYO1B	4430	.	GRCh37	2	192273885	192273885	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	77	0	ENST00000304164.4:c.2747G>C	p.Arg916Thr	p.R916T	ENST00000304164	NM_001161819.1	916	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS46477.1	2747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGATTT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277	.	.	ENSP00000376132	.	26/31	.	.	.	.	.	.	.	.	.	26/31	PASS	ENST00000392318	Transcript	.	.	ENSG00000128641	7596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	tolerated(0.22)	.	MYO1B_HUMAN	MYO1B	HGNC	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN	.	UPI00001A9466	SNV	MYO1B,missense_variant,p.Arg887Thr,ENST00000392316,;MYO1B,missense_variant,p.Arg916Thr,ENST00000392318,;MYO1B,missense_variant,p.Arg858Thr,ENST00000339514,;MYO1B,missense_variant,p.Arg161Thr,ENST00000439065,;MYO1B,missense_variant,p.Arg916Thr,ENST00000304164,;MYO1B,upstream_gene_variant,,ENST00000427152,;MYO1B,non_coding_transcript_exon_variant,,ENST00000490069,;MYO1B,downstream_gene_variant,,ENST00000461714,;	2994	77	90	SUCCESS
CTLA4	1493	.	GRCh37	2	204732726	204732726	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	34	101	0	ENST00000302823.3:c.61C>A	p.Pro21Thr	p.P21T	ENST00000302823	NM_005214.4	21	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS2362.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCCCTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11494,hmmpanther:PTHR11494:SF8,Prints_domain:PR01720	.	.	ENSP00000303939	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000302823	Transcript	.	.	ENSG00000163599	2505	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	deleterious_low_confidence(0.02)	.	CTLA4_HUMAN	CTLA4	HGNC	Q9BZK2_HUMAN,Q8TDA6_HUMAN,Q0Q5F1_HUMAN,E9L3G3_HUMAN,E9L3G1_HUMAN,E9L3G0_HUMAN	.	UPI0000031FDF	SNV	CTLA4,missense_variant,p.Pro21Thr,ENST00000302823,;CTLA4,missense_variant,p.Pro21Thr,ENST00000295854,;CTLA4,missense_variant,p.Pro21Thr,ENST00000472206,;CTLA4,upstream_gene_variant,,ENST00000427473,;CTLA4,non_coding_transcript_exon_variant,,ENST00000487393,;	218	101	80	SUCCESS
PARD3B	117583	.	GRCh37	2	205829899	205829899	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	59	0	ENST00000406610.2:c.247G>A	p.Glu83Lys	p.E83K	ENST00000406610	NM_205863.3	83	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS42806.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAGAACCA	NONE	.	.	hmmpanther:PTHR16484:SF9,hmmpanther:PTHR16484,Pfam_domain:PF12053	.	.	ENSP00000351618	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000358768	Transcript	.	.	ENSG00000116117	14446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	tolerated(0.12)	.	PAR3L_HUMAN	PARD3B	HGNC	Q587I4_HUMAN,Q53TQ6_HUMAN,Q53TP8_HUMAN,Q53TL6_HUMAN,Q53TI4_HUMAN,Q53T65_HUMAN,Q53SN0_HUMAN,Q4ZG80_HUMAN	.	UPI000007201E	SNV	PARD3B,missense_variant,p.Glu83Lys,ENST00000349953,;PARD3B,missense_variant,p.Glu83Lys,ENST00000358768,;PARD3B,missense_variant,p.Glu83Lys,ENST00000406610,;PARD3B,missense_variant,p.Glu83Lys,ENST00000351153,;PARD3B,missense_variant,p.Glu83Lys,ENST00000462231,;PARD3B,3_prime_UTR_variant,,ENST00000415947,;	247	59	66	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209141531	209141531	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	58	103	0	ENST00000264380.4:c.418G>C	p.Glu140Gln	p.E140Q	ENST00000264380	NM_015040.3	140	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS2382.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGAAATC	NONE	.	.	hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	.	.	ENSP00000264380	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	tolerated(0.06)	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,missense_variant,p.Glu140Gln,ENST00000452564,;PIKFYVE,missense_variant,p.Glu140Gln,ENST00000407449,;PIKFYVE,missense_variant,p.Glu152Gln,ENST00000422495,;PIKFYVE,missense_variant,p.Glu140Gln,ENST00000264380,;PIKFYVE,intron_variant,,ENST00000308862,;PIKFYVE,intron_variant,,ENST00000392202,;PIKFYVE,missense_variant,p.Glu140Gln,ENST00000443896,;	576	103	114	SUCCESS
PECR	55825	.	GRCh37	2	216946462	216946462	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	106	0	ENST00000265322.7:c.3G>T	p.Met1?	p.M1?	ENST00000265322	NM_018441.5	1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33375.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCATCCC	NONE	.	.	hmmpanther:PTHR24317	.	.	ENSP00000265322	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000265322	Transcript	.	.	ENSG00000115425	18281	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0.01)	.	PECR_HUMAN	PECR	HGNC	.	.	UPI000004C794	SNV	PECR,start_lost,p.Met1?,ENST00000265322,;TMEM169,upstream_gene_variant,,ENST00000406027,;TMEM169,upstream_gene_variant,,ENST00000295658,;TMEM169,upstream_gene_variant,,ENST00000433112,;TMEM169,upstream_gene_variant,,ENST00000454545,;TMEM169,upstream_gene_variant,,ENST00000455479,;TMEM169,upstream_gene_variant,,ENST00000437356,;PECR,non_coding_transcript_exon_variant,,ENST00000487318,;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,intron_variant,,ENST00000464722,;PECR,start_lost,p.Met1?,ENST00000442122,;PECR,non_coding_transcript_exon_variant,,ENST00000474093,;	78	106	76	SUCCESS
SLC4A3	6508	.	GRCh37	2	220500114	220500114	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1489059788	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	102	314	0	ENST00000317151.3:c.1868G>T	p.Arg623Leu	p.R623L	ENST00000317151		623	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS2446.1	1949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGCTCCG	NONE	.	.	Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834,Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15	.	.	ENSP00000362867	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.712)	.	tolerated(0.26)	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,missense_variant,p.Arg623Leu,ENST00000373760,;SLC4A3,missense_variant,p.Arg650Leu,ENST00000273063,;SLC4A3,missense_variant,p.Arg623Leu,ENST00000317151,;SLC4A3,missense_variant,p.Arg623Leu,ENST00000358055,;SLC4A3,missense_variant,p.Arg650Leu,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,3_prime_UTR_variant,,ENST00000444906,;	2218	314	220	SUCCESS
UGT1A3	54659	.	GRCh37	2	234638229	234638229	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1274615489	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	32	196	1	ENST00000482026.1:c.457C>T	p.Pro153Ser	p.P153S	ENST00000482026		153	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2509.1	457	RADIA|VARSCANS	.	CAGACCCCGTT	NONE	.	.	hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000418532	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000482026	Transcript	.	.	ENSG00000243135	12535	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	UD13_HUMAN	UGT1A3	HGNC	Q8WX91_HUMAN,A9UKC8_HUMAN,A7E1U5_HUMAN,Q5DT01_HUMAN	.	UPI0000001045	SNV	UGT1A3,missense_variant,p.Pro153Ser,ENST00000482026,;UGT1A8,missense_variant,p.Pro153Ser,ENST00000609767,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A4,intron_variant,,ENST00000373409,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,non_coding_transcript_exon_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000484784,;	476	197	207	SUCCESS
KLHL30	377007	.	GRCh37	2	239054430	239054430	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	98	440	2	ENST00000409223.1:c.1107C>A	p.Asn369Lys	p.N369K	ENST00000409223		369	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS46555.2	1107	RADIA|SOMATICSNIPER|VARSCANS	.	ACCAACCACGC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9,Gene3D:1zgkA00,Pfam_domain:PF01344,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000386389	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000409223	Transcript	.	.	ENSG00000168427	24770	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.895)	.	tolerated(0.09)	.	KLH30_HUMAN	KLHL30	HGNC	J3KND5_HUMAN	.	UPI00001D7DA5	SNV	KLHL30,missense_variant,p.Asn351Lys,ENST00000305959,;KLHL30,missense_variant,p.Asn369Lys,ENST00000409223,;	1214	442	303	SUCCESS
GCKR	2646	.	GRCh37	2	27741789	27741789	+	synonymous_variant	Silent	SNP	G	G	T	rs367961156	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	76	0	ENST00000264717.2:c.1557G>T	p.Ala519=	p.A519=	ENST00000264717	NM_001486.3	519	gcG/gcT	0	A:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS1757.1	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGCTGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10088,Gene3D:3.40.50.10490,Superfamily_domains:SSF53697	.	A:0	ENSP00000264717	.	17/19	.	.	.	.	.	.	.	.	rs367961156	17/19	PASS	ENST00000264717	Transcript	.	.	ENSG00000084734	4196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCKR_HUMAN	GCKR	HGNC	F5H1P6_HUMAN	.	UPI000013D55B	SNV	GCKR,synonymous_variant,p.%3D,ENST00000264717,;GCKR,synonymous_variant,p.%3D,ENST00000424318,;	1620	76	59	SUCCESS
SPAST	6683	.	GRCh37	2	32289161	32289161	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	36	0	ENST00000315285.3:c.261G>A	p.Met87Ile	p.M87I	ENST00000315285	NM_014946.3	87	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1778.1	261	MUTECT|MUSE	.	CTCATGGCAGC	NONE	.	.	HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,PIRSF_domain:PIRSF037338	.	.	ENSP00000320885	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000315285	Transcript	.	.	ENSG00000021574	11233	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.519)	.	tolerated(0.46)	.	SPAST_HUMAN	SPAST	HGNC	E5KRP5_HUMAN	.	UPI0000038A6B	SNV	SPAST,missense_variant,p.Met87Ile,ENST00000315285,;SPAST,missense_variant,p.Met87Ile,ENST00000345662,;	386	36	27	SUCCESS
LTBP1	4052	.	GRCh37	2	33585803	33585803	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	38	120	0	ENST00000404816.2:c.4140G>T	p.Trp1380Cys	p.W1380C	ENST00000404816		1380	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS33177.2	4140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGGGAGA	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,Gene3D:3.90.290.10,Pfam_domain:PF00683,Superfamily_domains:SSF57581	.	.	ENSP00000386043	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Trp1054Cys,ENST00000407925,;LTBP1,missense_variant,p.Trp1381Cys,ENST00000354476,;LTBP1,missense_variant,p.Trp1012Cys,ENST00000418533,;LTBP1,missense_variant,p.Trp216Cys,ENST00000422669,;LTBP1,missense_variant,p.Trp1055Cys,ENST00000390003,;LTBP1,missense_variant,p.Trp1380Cys,ENST00000404816,;LTBP1,missense_variant,p.Trp999Cys,ENST00000402934,;LTBP1,missense_variant,p.Trp278Cys,ENST00000272273,;LTBP1,missense_variant,p.Trp1001Cys,ENST00000404525,;	4493	120	122	SUCCESS
EIF2AK2	5610	.	GRCh37	2	37349804	37349804	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	53	136	1	ENST00000233057.4:c.912G>T	p.Lys304Asn	p.K304N	ENST00000233057	NM_001135651.2	304	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS1786.1	912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCCTTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF77,hmmpanther:PTHR11042,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000233057	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000233057	Transcript	.	.	ENSG00000055332	9437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	E2AK2_HUMAN	EIF2AK2	HGNC	F8WBH4_HUMAN,C9JZT2_HUMAN,B7ZKK7_HUMAN	.	UPI000000D925	SNV	EIF2AK2,missense_variant,p.Lys304Asn,ENST00000395127,;EIF2AK2,missense_variant,p.Lys304Asn,ENST00000233057,;EIF2AK2,missense_variant,p.Lys263Asn,ENST00000405334,;	1235	137	97	SUCCESS
SOS1	6654	.	GRCh37	2	39222434	39222434	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767619216	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	66	129	0	ENST00000402219.2:c.3176A>G	p.Glu1059Gly	p.E1059G	ENST00000402219	NM_005633.3	1059	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS1802.1	3176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTCCTGC	NONE	.	.	hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113	.	.	ENSP00000387784	.	21/24	.	.	.	.	.	.	.	.	rs767619216	21/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	tolerated(0.06)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Glu1059Gly,ENST00000395038,;SOS1,missense_variant,p.Glu1059Gly,ENST00000426016,;SOS1,missense_variant,p.Glu1059Gly,ENST00000402219,;SOS1-IT1,upstream_gene_variant,,ENST00000594472,;SOS1-IT1,upstream_gene_variant,,ENST00000609942,;SOS1-IT1,upstream_gene_variant,,ENST00000420644,;SOS1,downstream_gene_variant,,ENST00000474390,;	3263	129	127	SUCCESS
NRXN1	9378	.	GRCh37	2	50463974	50463974	+	synonymous_variant	Silent	SNP	G	G	T	rs199546979	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	60	130	0	ENST00000406316.2:c.3499C>A	p.Arg1167=	p.R1167=	ENST00000406316	NM_004801.4	1167	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS46282.1	3619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	CACTCGCACCA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	19/24	.	.	.	.	.	.	.	.	rs199546979,COSM1021456,COSM1021458,COSM1021457	19/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	0,1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000401710,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000342183,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;	4959	130	138	SUCCESS
EFEMP1	2202	.	GRCh37	2	56144961	56144961	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	72	0	ENST00000355426.3:c.356T>C	p.Val119Ala	p.V119A	ENST00000355426		119	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS1857.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCACAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048	.	.	ENSP00000378058	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.68)	.	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Val119Ala,ENST00000439193,;EFEMP1,missense_variant,p.Val119Ala,ENST00000355426,;EFEMP1,missense_variant,p.Val119Ala,ENST00000394554,;EFEMP1,missense_variant,p.Val119Ala,ENST00000438672,;EFEMP1,missense_variant,p.Val61Ala,ENST00000424836,;EFEMP1,missense_variant,p.Val119Ala,ENST00000394555,;EFEMP1,downstream_gene_variant,,ENST00000452337,;EFEMP1,downstream_gene_variant,,ENST00000440439,;EFEMP1,downstream_gene_variant,,ENST00000421664,;EFEMP1,downstream_gene_variant,,ENST00000424207,;EFEMP1,downstream_gene_variant,,ENST00000429909,;EFEMP1,non_coding_transcript_exon_variant,,ENST00000452161,;EFEMP1,downstream_gene_variant,,ENST00000497698,;EFEMP1,downstream_gene_variant,,ENST00000480016,;	792	72	72	SUCCESS
ASTL	431705	.	GRCh37	2	96798324	96798324	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753572086	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	95	234	0	ENST00000342380.2:c.592G>T	p.Asp198Tyr	p.D198Y	ENST00000342380	NM_001002036.3	198	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33249.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCGGCCC	NONE	.	.	Prints_domain:PR00480,Superfamily_domains:SSF55486,SMART_domains:SM00235,Gene3D:3.40.390.10,Pfam_domain:PF01400,hmmpanther:PTHR10127	.	.	ENSP00000343674	.	6/9	.	.	.	.	.	.	.	.	rs753572086	6/9	PASS	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Asp198Tyr,ENST00000342380,;ASTL,downstream_gene_variant,,ENST00000470582,;	592	234	195	SUCCESS
ACAD11	84129	.	GRCh37	3	132378583	132378583	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	113	0	ENST00000264990.6:c.13G>T	p.Ala5Ser	p.A5S	ENST00000264990	NM_032169.4	5	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3074.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCACCTG	NONE	.	.	.	.	.	ENSP00000264990	.	1/20	.	.	.	.	.	.	.	.	COSM116048	1/20	PASS	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.024)	.	deleterious(0.02)	1	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,missense_variant,p.Ala5Ser,ENST00000355458,;ACAD11,missense_variant,p.Ala5Ser,ENST00000481970,;ACAD11,missense_variant,p.Ala5Ser,ENST00000264990,;UBA5,5_prime_UTR_variant,,ENST00000356232,;ACAD11,5_prime_UTR_variant,,ENST00000545291,;UBA5,intron_variant,,ENST00000264991,;UBA5,upstream_gene_variant,,ENST00000473651,;UBA5,upstream_gene_variant,,ENST00000468022,;UBA5,upstream_gene_variant,,ENST00000464068,;UBA5,upstream_gene_variant,,ENST00000493720,;UBA5,upstream_gene_variant,,ENST00000494238,;ACAD11,non_coding_transcript_exon_variant,,ENST00000489991,;UBA5,upstream_gene_variant,,ENST00000480955,;ACAD11,missense_variant,p.Ala5Ser,ENST00000485198,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;NPHP3,intron_variant,,ENST00000471702,;UBA5,upstream_gene_variant,,ENST00000505777,;ACAD11,upstream_gene_variant,,ENST00000496418,;UBA5,upstream_gene_variant,,ENST00000464101,;	985	113	66	SUCCESS
GPR149	344758	.	GRCh37	3	154146874	154146874	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	52	0	ENST00000389740.2:c.531C>T	p.Arg177=	p.R177=	ENST00000389740	NM_001038705.1	177	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS43162.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTGCGCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF32,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000374390	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,synonymous_variant,p.%3D,ENST00000389740,;	631	52	29	SUCCESS
LRCH3	84859	.	GRCh37	3	197562626	197562626	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773998276	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	103	0	ENST00000425562.2:c.1184G>A	p.Gly395Glu	p.G395E	ENST00000425562		395	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS3330.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGGACCAG	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF423	.	.	ENSP00000334375	.	9/19	.	.	.	.	.	.	.	.	rs773998276	9/19	PASS	ENST00000334859	Transcript	.	.	ENSG00000186001	28637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	tolerated(0.22)	.	LRCH3_HUMAN	LRCH3	HGNC	.	.	UPI000006E903	SNV	LRCH3,missense_variant,p.Gly395Glu,ENST00000334859,;LRCH3,missense_variant,p.Gly395Glu,ENST00000438796,;LRCH3,missense_variant,p.Gly395Glu,ENST00000425562,;LRCH3,5_prime_UTR_variant,,ENST00000536618,;LRCH3,intron_variant,,ENST00000441090,;LRCH3,intron_variant,,ENST00000414675,;AC055764.1,upstream_gene_variant,,ENST00000454526,;LRCH3,upstream_gene_variant,,ENST00000494069,;	1189	103	79	SUCCESS
NEK10	152110	.	GRCh37	3	27346421	27346421	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	72	1	ENST00000429845.2:c.845A>T	p.Gln282Leu	p.Q282L	ENST00000429845		282	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS46781.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTGGGGC	NONE	.	.	hmmpanther:PTHR26266:SF77,hmmpanther:PTHR26266,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000343847	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000341435	Transcript	.	.	ENSG00000163491	18592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.09)	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI00001C089B	SNV	NEK10,missense_variant,p.Gln282Leu,ENST00000429845,;NEK10,missense_variant,p.Gln282Leu,ENST00000341435,;NEK10,downstream_gene_variant,,ENST00000491627,;	1119	73	52	SUCCESS
PRSS45	0	.	GRCh37	3	46784019	46784019	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1366040869	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	50	136	0	ENST00000442359.2:c.508G>A	p.Gly170Arg	p.G170R	ENST00000442359	NM_199183.2	170	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46815.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCAGCCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF47,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000401932	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000442359	Transcript	.	.	ENSG00000188086	30717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRS45_HUMAN	PRSS45	HGNC	.	.	UPI0000F3B8DC	SNV	PRSS45,missense_variant,p.Gly170Arg,ENST00000442359,;PRSS50,intron_variant,,ENST00000460241,;PRSS45,3_prime_UTR_variant,,ENST00000423292,;	508	136	114	SUCCESS
ERC2	26059	.	GRCh37	3	55717878	55717878	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	136	0	ENST00000288221.6:c.2857G>C	p.Glu953Gln	p.E953Q	ENST00000288221	NM_015576.1	953	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS46851.1	2857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCCTCGT	NONE	.	.	.	.	.	ENSP00000288221	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0.01)	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,missense_variant,p.Glu953Gln,ENST00000288221,;ERC2,non_coding_transcript_exon_variant,,ENST00000468118,;ERC2,intron_variant,,ENST00000487287,;ERC2,missense_variant,p.Glu953Gln,ENST00000460849,;	3113	136	82	SUCCESS
LMOD3	56203	.	GRCh37	3	69167886	69167886	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753299503	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	176	0	ENST00000420581.2:c.1620C>A	p.Asn540Lys	p.N540K	ENST00000420581	NM_198271.3	540	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46862.1	1620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCGTTTAG	NONE	.	.	hmmpanther:PTHR10901:SF3,hmmpanther:PTHR10901	.	.	ENSP00000414670	.	2/3	.	.	.	.	.	.	.	.	rs753299503	2/3	PASS	ENST00000420581	Transcript	.	.	ENSG00000163380	6649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	tolerated(0.07)	.	LMOD3_HUMAN	LMOD3	HGNC	.	.	UPI00001612AC	SNV	LMOD3,missense_variant,p.Asn540Lys,ENST00000489031,;LMOD3,missense_variant,p.Asn540Lys,ENST00000475434,;LMOD3,missense_variant,p.Asn540Lys,ENST00000420581,;	1800	176	123	SUCCESS
MGARP	84709	.	GRCh37	4	140187811	140187811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	17	23	0	ENST00000398955.1:c.665G>T	p.Gly222Val	p.G222V	ENST00000398955	NM_032623.3	222	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS43269.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCAGCA	NONE	.	.	hmmpanther:PTHR22910,hmmpanther:PTHR22910:SF6	.	.	ENSP00000381928	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000398955	Transcript	.	.	ENSG00000137463	29969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.795)	.	deleterious(0.02)	.	HUMMR_HUMAN	MGARP	HGNC	.	.	UPI000007197E	SNV	MGARP,missense_variant,p.Gly222Val,ENST00000398955,;NDUFC1,downstream_gene_variant,,ENST00000503997,;	845	23	24	SUCCESS
FGA	2243	.	GRCh37	4	155505651	155505651	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376434823	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	80	152	0	ENST00000302053.3:c.2226C>G	p.Phe742Leu	p.F742L	ENST00000302053	NM_000508.3	742	ttC/ttG	0	T:0	.	.	.	.	C	F/L	protein_coding	YES	CCDS3787.1	2226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGGAAGTG	NONE	byCluster	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	T:0.0001	ENSP00000306361	.	6/6	.	.	.	.	.	.	.	.	rs376434823	6/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(1)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Phe742Leu,ENST00000302053,;FGA,downstream_gene_variant,,ENST00000403106,;	2305	152	107	SUCCESS
DDX60L	91351	.	GRCh37	4	169305825	169305825	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	154	302	0	ENST00000260184.7:c.4054C>G	p.Leu1352Val	p.L1352V	ENST00000260184	NM_001012967.1	1352	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS47161.1	4054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGGTTA	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF56	.	.	ENSP00000260184	.	30/38	.	.	.	.	.	.	.	.	.	30/38	PASS	ENST00000260184	Transcript	.	.	ENSG00000181381	26429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0.02)	.	DDX6L_HUMAN	DDX60L	HGNC	D6RIU1_HUMAN,D6RBA2_HUMAN,D6RB62_HUMAN	.	UPI0001553B03	SNV	DDX60L,missense_variant,p.Leu1352Val,ENST00000511577,;DDX60L,missense_variant,p.Leu1352Val,ENST00000260184,;DDX60L,upstream_gene_variant,,ENST00000510590,;	4275	302	315	SUCCESS
TLR1	7096	.	GRCh37	4	38798659	38798659	+	synonymous_variant	Silent	SNP	G	G	A	rs778197468	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	63	175	0	ENST00000308979.2:c.1794C>T	p.Thr598=	p.T598=	ENST00000308979	NM_003263.3	598	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33973.1	1794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGGTCAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,PIRSF_domain:PIRSF037595	.	.	ENSP00000354932	.	4/4	.	.	.	.	.	.	.	.	rs778197468	4/4	PASS	ENST00000308979	Transcript	1	.	ENSG00000174125	11847	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR1_HUMAN	TLR1	HGNC	Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN	.	UPI000013EDFA	SNV	TLR1,synonymous_variant,p.%3D,ENST00000308979,;TLR1,synonymous_variant,p.%3D,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,intron_variant,,ENST00000505744,;TLR1,downstream_gene_variant,,ENST00000508535,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;	2068	175	111	SUCCESS
ALB	213	.	GRCh37	4	74272392	74272393	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	ATCA	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	12	26	70	0	ENST00000295897.4:c.185_188dup	p.His63GlnfsTer8	p.H63Qfs*8	ENST00000295897	NM_000477.5	62	gat/gATCAat	0	.	.	.	.	.	ATCA	D/DQX	protein_coding	YES	CCDS3555.1	184-185	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAGATCAT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.His63GlnfsTer8,ENST00000509063,;ALB,frameshift_variant,p.His63GlnfsTer8,ENST00000295897,;ALB,frameshift_variant,p.His65GlnfsTer8,ENST00000441319,;ALB,5_prime_UTR_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000507673,;	273-274	70	38	SUCCESS
PCDH12	51294	.	GRCh37	5	141337154	141337154	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	91	214	0	ENST00000231484.3:c.263C>G	p.Thr88Arg	p.T88R	ENST00000231484	NM_016580.3	88	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS4269.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGTGCTG	NONE	.	.	Prints_domain:PR00205,SMART_domains:SM00112,Pfam_domain:PF08266,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF42,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231484	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000231484	Transcript	.	.	ENSG00000113555	8657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,missense_variant,p.Thr88Arg,ENST00000231484,;RNF14,upstream_gene_variant,,ENST00000506822,;RNF14,upstream_gene_variant,,ENST00000511961,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	1474	214	179	SUCCESS
FAM105A	0	.	GRCh37	5	14601219	14601219	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	57	0	ENST00000274217.3:c.210G>T	p.Gly70=	p.G70=	ENST00000274217	NM_019018.2	70	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3884.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGCACAA	NONE	.	.	.	.	.	ENSP00000274217	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000274217	Transcript	.	.	ENSG00000145569	25629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F105A_HUMAN	FAM105A	HGNC	.	.	UPI000004A036	SNV	FAM105A,synonymous_variant,p.%3D,ENST00000274217,;FAM105A,non_coding_transcript_exon_variant,,ENST00000513825,;	330	57	49	SUCCESS
HAVCR1	26762	.	GRCh37	5	156476055	156476055	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	177	1	ENST00000339252.3:c.775A>T	p.Thr259Ser	p.T259S	ENST00000339252	NM_012206.2	259	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS43392.1	775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGTGTAAG	NONE	.	.	hmmpanther:PTHR15498:SF8,hmmpanther:PTHR15498	.	.	ENSP00000344844	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000339252	Transcript	.	.	ENSG00000113249	17866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated(0.85)	.	HAVR1_HUMAN	HAVCR1	HGNC	E5RIF6_HUMAN	.	UPI000006EEEC	SNV	HAVCR1,missense_variant,p.Thr259Ser,ENST00000425854,;HAVCR1,missense_variant,p.Thr259Ser,ENST00000339252,;HAVCR1,missense_variant,p.Thr259Ser,ENST00000523175,;HAVCR1,missense_variant,p.Thr259Ser,ENST00000544197,;HAVCR1,missense_variant,p.Thr259Ser,ENST00000522693,;HAVCR1,downstream_gene_variant,,ENST00000518745,;HAVCR1,non_coding_transcript_exon_variant,,ENST00000517644,;	1308	178	104	SUCCESS
DOCK2	1794	.	GRCh37	5	169230139	169230139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	182	0	ENST00000256935.8:c.2632C>A	p.Gln878Lys	p.Q878K	ENST00000256935	NM_004946.2	878	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS4371.1	2632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACCAGGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000256935	.	26/52	.	.	.	.	.	.	.	.	.	26/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(1)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Gln878Lys,ENST00000256935,;DOCK2,missense_variant,p.Gln82Lys,ENST00000519628,;DOCK2,missense_variant,p.Gln370Lys,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520181,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,missense_variant,p.Gln878Lys,ENST00000524185,;	2712	183	121	SUCCESS
ERGIC1	57222	.	GRCh37	5	172342858	172342858	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	21	0	ENST00000393784.3:c.375+1017A>T		p.*125*	ENST00000393784	NM_001031711.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGACCC	NONE	.	.	.	.	.	ENSP00000377374	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393784	Transcript	.	.	ENSG00000113719	29205	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERGI1_HUMAN	ERGIC1	HGNC	.	.	UPI0000072178	SNV	ERGIC1,3_prime_UTR_variant,,ENST00000326654,;ERGIC1,intron_variant,,ENST00000523291,;ERGIC1,intron_variant,,ENST00000518247,;ERGIC1,intron_variant,,ENST00000519567,;ERGIC1,intron_variant,,ENST00000393784,;ERGIC1,downstream_gene_variant,,ENST00000520326,;ERGIC1,upstream_gene_variant,,ENST00000523650,;ERGIC1,intron_variant,,ENST00000519796,;ERGIC1,intron_variant,,ENST00000520642,;	.	21	18	SUCCESS
HNRNPH1	3187	.	GRCh37	5	179043937	179043937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	58	232	0	ENST00000356731.5:c.1140C>A	p.Phe380Leu	p.F380L	ENST00000356731		380	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS4446.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGAAGAG	NONE	.	.	hmmpanther:PTHR13976:SF33,hmmpanther:PTHR13976,Gene3D:3.30.70.330	.	.	ENSP00000349168	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000356731	Transcript	1	.	ENSG00000169045	5041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.23)	.	HNRH1_HUMAN	HNRNPH1	HGNC	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN	.	UPI0000000C2B	SNV	HNRNPH1,missense_variant,p.Phe48Leu,ENST00000523449,;HNRNPH1,missense_variant,p.Phe380Leu,ENST00000329433,;HNRNPH1,missense_variant,p.Phe174Leu,ENST00000523921,;HNRNPH1,missense_variant,p.Phe380Leu,ENST00000442819,;HNRNPH1,missense_variant,p.Phe380Leu,ENST00000356731,;HNRNPH1,missense_variant,p.Phe380Leu,ENST00000393432,;HNRNPH1,missense_variant,p.Phe255Leu,ENST00000521173,;HNRNPH1,intron_variant,,ENST00000511300,;HNRNPH1,intron_variant,,ENST00000510411,;HNRNPH1,intron_variant,,ENST00000519033,;HNRNPH1,downstream_gene_variant,,ENST00000503664,;HNRNPH1,downstream_gene_variant,,ENST00000504348,;HNRNPH1,downstream_gene_variant,,ENST00000515714,;HNRNPH1,downstream_gene_variant,,ENST00000521116,;HNRNPH1,downstream_gene_variant,,ENST00000510431,;HNRNPH1,downstream_gene_variant,,ENST00000505811,;HNRNPH1,downstream_gene_variant,,ENST00000523137,;HNRNPH1,upstream_gene_variant,,ENST00000523136,;HNRNPH1,downstream_gene_variant,,ENST00000519056,;HNRNPH1,downstream_gene_variant,,ENST00000508103,;HNRNPH1,downstream_gene_variant,,ENST00000506721,;HNRNPH1,downstream_gene_variant,,ENST00000513225,;HNRNPH1,downstream_gene_variant,,ENST00000515158,;HNRNPH1,downstream_gene_variant,,ENST00000503105,;HNRNPH1,downstream_gene_variant,,ENST00000521790,;HNRNPH1,downstream_gene_variant,,ENST00000519455,;HNRNPH1,downstream_gene_variant,,ENST00000518548,;HNRNPH1,downstream_gene_variant,,ENST00000524180,;HNRNPH1,3_prime_UTR_variant,,ENST00000510678,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502632,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514731,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000515481,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000504549,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502904,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000521720,;HNRNPH1,intron_variant,,ENST00000519958,;HNRNPH1,downstream_gene_variant,,ENST00000522958,;HNRNPH1,downstream_gene_variant,,ENST00000512273,;HNRNPH1,upstream_gene_variant,,ENST00000524179,;HNRNPH1,downstream_gene_variant,,ENST00000505087,;HNRNPH1,downstream_gene_variant,,ENST00000519707,;HNRNPH1,downstream_gene_variant,,ENST00000520415,;HNRNPH1,downstream_gene_variant,,ENST00000513972,;HNRNPH1,downstream_gene_variant,,ENST00000504779,;HNRNPH1,downstream_gene_variant,,ENST00000519943,;	2676	232	135	SUCCESS
TRIM7	81786	.	GRCh37	5	180630748	180630748	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000274773.7:c.523-108C>T		p.*175*	ENST00000274773	NM_203293.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4462.1	.	MUTECT|MUSE	.	ACTGAGGGGGA	NONE	.	.	.	.	.	ENSP00000274773	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000274773	Transcript	.	.	ENSG00000146054	16278	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRIM7_HUMAN	TRIM7	HGNC	.	.	UPI000006D24A	SNV	TRIM7,5_prime_UTR_variant,,ENST00000393315,;TRIM7,intron_variant,,ENST00000334421,;TRIM7,intron_variant,,ENST00000274773,;TRIM7,intron_variant,,ENST00000422067,;TRIM7,intron_variant,,ENST00000361809,;TRIM7,upstream_gene_variant,,ENST00000393319,;CTC-338M12.6,downstream_gene_variant,,ENST00000419707,;CTC-338M12.6,downstream_gene_variant,,ENST00000511517,;CTC-338M12.6,downstream_gene_variant,,ENST00000509080,;CTC-338M12.1,downstream_gene_variant,,ENST00000503314,;CTC-338M12.6,downstream_gene_variant,,ENST00000502812,;CTC-338M12.6,downstream_gene_variant,,ENST00000514784,;CTC-338M12.6,downstream_gene_variant,,ENST00000512508,;TRIM7,non_coding_transcript_exon_variant,,ENST00000509199,;TRIM7,upstream_gene_variant,,ENST00000504241,;	.	8	10	SUCCESS
LMBRD2	92255	.	GRCh37	5	36136503	36136503	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	104	0	ENST00000296603.4:c.655A>T	p.Arg219Trp	p.R219W	ENST00000296603	NM_001007527.1	219	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS34145.1	655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTTTTTG	NONE	.	.	Pfam_domain:PF04791,hmmpanther:PTHR21355	.	.	ENSP00000296603	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000296603	Transcript	.	.	ENSG00000164187	25287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.427)	.	deleterious(0.03)	.	LMBD2_HUMAN	LMBRD2	HGNC	B4DTZ7_HUMAN	.	UPI00001602FC	SNV	LMBRD2,missense_variant,p.Arg219Trp,ENST00000296603,;LMBRD2,downstream_gene_variant,,ENST00000503535,;	1118	104	108	SUCCESS
KIAA0947	0	.	GRCh37	5	5461287	5461287	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	53	97	1	ENST00000296564.7:c.1840G>A	p.Asp614Asn	p.D614N	ENST00000296564	NM_015325.2	614	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS47187.1	1840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGACTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.39)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Asp614Asn,ENST00000296564,;	2062	98	105	SUCCESS
GNL3LP1	80060	.	GRCh37	5	60188264	60188264	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	32	81	0	ENST00000399458.2:n.1141T>G		p.*381*	ENST00000399458				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGAGATGG	NONE	.	.	.	.	.	ENSP00000265038	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265038	Transcript	1	.	ENSG00000049167	3439	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC8_HUMAN	ERCC8	HGNC	G3XAG7_HUMAN,C9JNT2_HUMAN,B3KPW7_HUMAN	.	UPI000000D8F8	SNV	ERCC8,intron_variant,,ENST00000426742,;ERCC8,intron_variant,,ENST00000265038,;ERCC8,intron_variant,,ENST00000543101,;ERCC8,non_coding_transcript_exon_variant,,ENST00000462279,;ERCC8,intron_variant,,ENST00000381118,;GNL3LP1,non_coding_transcript_exon_variant,,ENST00000399458,;	.	81	65	SUCCESS
SEMA5A	9037	.	GRCh37	5	9066573	9066573	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	44	166	0	ENST00000382496.5:c.2259G>A	p.Arg753=	p.R753=	ENST00000382496	NM_003966.2	753	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3875.1	2259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTACCGCAT	BUFFER|p.E751K|c.2251G>A|3	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78	.	.	ENSP00000371936	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000382496	Transcript	1	.	ENSG00000112902	10736	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM5A_HUMAN	SEMA5A	HGNC	D6RAF4_HUMAN,B4DE33_HUMAN	.	UPI000004F25D	SNV	SEMA5A,synonymous_variant,p.%3D,ENST00000382496,;	2925	166	141	SUCCESS
GJA1	2697	.	GRCh37	6	121767988	121767988	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	90	0	ENST00000282561.3:c.-6G>T		p.*2*	ENST00000282561	NM_000165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5123.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGCAAC	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,5_prime_UTR_variant,,ENST00000282561,;	152	90	90	SUCCESS
ATXN1	6310	.	GRCh37	6	16327490	16327490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758093377	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	78	0	ENST00000244769.4:c.1052C>T	p.Ser351Leu	p.S351L	ENST00000244769	NM_000332.3	351	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS34342.1	1052	MUTECT|MUSE|VARSCANS	.	GAACCGACTTG	NONE	byFrequency	.	hmmpanther:PTHR13392:SF5,hmmpanther:PTHR13392	.	.	ENSP00000244769	.	8/9	.	.	.	.	.	.	.	.	rs758093377	8/9	PASS	ENST00000244769	Transcript	.	.	ENSG00000124788	10548	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.013)	.	tolerated(0.21)	.	ATX1_HUMAN	ATXN1	HGNC	.	.	UPI000013CB8B	SNV	ATXN1,missense_variant,p.Ser351Leu,ENST00000244769,;ATXN1,missense_variant,p.Ser351Leu,ENST00000436367,;	1989	78	79	SUCCESS
PKHD1	5314	.	GRCh37	6	51920438	51920438	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	83	0	ENST00000371117.3:c.1783G>T	p.Val595Phe	p.V595F	ENST00000371117	NM_138694.3	595	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS4935.1	1783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACAAGGT	NONE	.	.	.	.	.	ENSP00000360158	.	19/67	.	.	.	.	.	.	.	.	.	19/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.729)	.	deleterious(0)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Val595Phe,ENST00000340994,;PKHD1,missense_variant,p.Val595Phe,ENST00000371117,;	2059	83	85	SUCCESS
LRCH4	4034	.	GRCh37	7	100174773	100174773	+	synonymous_variant	Silent	SNP	A	A	G	rs936424178	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	125	0	ENST00000310300.6:c.1300T>C	p.Leu434=	p.L434=	ENST00000310300	NM_002319.3	434	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34706.1	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAAGAGGC	NONE	.	.	.	.	.	ENSP00000309689	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000310300	Transcript	.	.	ENSG00000077454	6691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRCH4_HUMAN	LRCH4	HGNC	C9JYK0_HUMAN	.	UPI00000714CE	SNV	LRCH4,synonymous_variant,p.%3D,ENST00000310300,;LRCH4,5_prime_UTR_variant,,ENST00000497245,;SAP25,upstream_gene_variant,,ENST00000538735,;LRCH4,upstream_gene_variant,,ENST00000485554,;LRCH4,non_coding_transcript_exon_variant,,ENST00000498539,;LRCH4,non_coding_transcript_exon_variant,,ENST00000485071,;LRCH4,non_coding_transcript_exon_variant,,ENST00000467201,;LRCH4,downstream_gene_variant,,ENST00000485583,;LRCH4,upstream_gene_variant,,ENST00000476881,;LRCH4,downstream_gene_variant,,ENST00000487697,;LRCH4,upstream_gene_variant,,ENST00000490359,;LRCH4,downstream_gene_variant,,ENST00000470184,;	1353	125	60	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117351762	117351762	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	37	0	ENST00000160373.3:c.4821A>T	p.Ser1607=	p.S1607=	ENST00000160373	NM_033427.2	1607	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5774.1	4821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTGAAAC	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,synonymous_variant,p.%3D,ENST00000446636,;CTTNBP2,synonymous_variant,p.%3D,ENST00000160373,;CFTR,intron_variant,,ENST00000600166,;CFTR,intron_variant,,ENST00000610149,;CFTR,intron_variant,,ENST00000429014,;CFTR,intron_variant,,ENST00000608965,;CTTNBP2,3_prime_UTR_variant,,ENST00000445366,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	4913	37	36	SUCCESS
CADPS2	93664	.	GRCh37	7	122303420	122303420	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	55	81	0	ENST00000449022.2:c.657A>G	p.Lys219=	p.K219=	ENST00000449022	NM_017954.10	219	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS55158.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGTTTGCA	NONE	.	.	hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	.	.	ENSP00000398481	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,synonymous_variant,p.%3D,ENST00000334010,;CADPS2,synonymous_variant,p.%3D,ENST00000449022,;CADPS2,synonymous_variant,p.%3D,ENST00000412584,;CADPS2,synonymous_variant,p.%3D,ENST00000313070,;	677	81	89	SUCCESS
SND1	27044	.	GRCh37	7	127721412	127721412	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	48	116	0	ENST00000354725.3:c.1969G>C	p.Val657Leu	p.V657L	ENST00000354725	NM_014390.2	657	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS34747.1	1969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGTCTGG	NONE	.	.	PROSITE_profiles:PS50830,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00565,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,SMART_domains:SM00318,Superfamily_domains:0047647	.	.	ENSP00000346762	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.4)	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,missense_variant,p.Val657Leu,ENST00000354725,;SND1,missense_variant,p.Val143Leu,ENST00000486037,;MIR593,upstream_gene_variant,,ENST00000384856,;SND1,splice_region_variant,,ENST00000470463,;SND1,splice_region_variant,,ENST00000470723,;	2163	116	82	SUCCESS
METTL2B	55798	.	GRCh37	7	128133954	128133954	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1343043459	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	79	146	0	ENST00000262432.8:c.766A>G	p.Ile256Val	p.I256V	ENST00000262432	NM_018396.2	256	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5803.2	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATATTATC	NONE	.	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF4,Pfam_domain:PF13489,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335	.	.	ENSP00000262432	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000262432	Transcript	.	.	ENSG00000165055	18272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	MET2B_HUMAN	METTL2B	HGNC	.	.	UPI000020FA36	SNV	METTL2B,missense_variant,p.Ile256Val,ENST00000262432,;METTL2B,missense_variant,p.Ile20Val,ENST00000481392,;METTL2B,missense_variant,p.Ile191Val,ENST00000480046,;RP11-212P7.3,downstream_gene_variant,,ENST00000462662,;METTL2B,3_prime_UTR_variant,,ENST00000497665,;METTL2B,non_coding_transcript_exon_variant,,ENST00000482555,;	803	146	124	SUCCESS
HIPK2	28996	.	GRCh37	7	139285298	139285298	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	79	200	0	ENST00000406875.3:c.2300A>T	p.Gln767Leu	p.Q767L	ENST00000406875	NM_022740.4	767	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	2300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGCTGC	NONE	.	.	.	.	.	ENSP00000385571	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	deleterious(0)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Gln767Leu,ENST00000342645,;HIPK2,missense_variant,p.Gln740Leu,ENST00000428878,;HIPK2,missense_variant,p.Gln767Leu,ENST00000406875,;	2395	200	152	SUCCESS
TBXAS1	6916	.	GRCh37	7	139655333	139655333	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	56	0	ENST00000336425.5:c.615T>A	p.Pro205=	p.P205=	ENST00000336425		205	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS55174.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTGAGGA	NONE	.	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24301:SF2,hmmpanther:PTHR24301	.	.	ENSP00000389414	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000416849	Transcript	.	.	ENSG00000059377	11609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TBXAS1	HGNC	F8WD37_HUMAN,E7EP08_HUMAN,C9JS68_HUMAN,C9J8N6_HUMAN	.	UPI0001AE7134	SNV	TBXAS1,synonymous_variant,p.%3D,ENST00000436047,;TBXAS1,synonymous_variant,p.%3D,ENST00000414508,;TBXAS1,synonymous_variant,p.%3D,ENST00000411653,;TBXAS1,synonymous_variant,p.%3D,ENST00000458722,;TBXAS1,synonymous_variant,p.%3D,ENST00000425687,;TBXAS1,synonymous_variant,p.%3D,ENST00000448866,;TBXAS1,synonymous_variant,p.%3D,ENST00000263552,;TBXAS1,synonymous_variant,p.%3D,ENST00000336425,;TBXAS1,synonymous_variant,p.%3D,ENST00000416849,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000469630,;TBXAS1,upstream_gene_variant,,ENST00000494876,;TBXAS1,downstream_gene_variant,,ENST00000476637,;	991	56	40	SUCCESS
CRHR2	1395	.	GRCh37	7	30721587	30721587	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756090500	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	86	0	ENST00000471646.1:c.173C>A	p.Ala58Asp	p.A58D	ENST00000471646	NM_001202483.1	58	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS56478.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGGCTCCG	NONE	.	.	Prints_domain:PR01281,Prints_domain:PR01279,Superfamily_domains:SSF111418,SMART_domains:SM00008,Pfam_domain:PF02793,PROSITE_patterns:PS00649,hmmpanther:PTHR12011:SF274,hmmpanther:PTHR12011,PROSITE_profiles:PS50227	.	.	ENSP00000340943	.	3/13	.	.	.	.	.	.	.	.	rs756090500	3/13	PASS	ENST00000348438	Transcript	.	.	ENSG00000106113	2358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.39)	.	CRFR2_HUMAN	CRHR2	HGNC	.	.	UPI000002A720	SNV	CRHR2,missense_variant,p.Ala58Asp,ENST00000506074,;CRHR2,missense_variant,p.Ala85Asp,ENST00000348438,;CRHR2,missense_variant,p.Ala44Asp,ENST00000341843,;CRHR2,missense_variant,p.Ala58Asp,ENST00000471646,;CRHR2,downstream_gene_variant,,ENST00000445981,;CRHR2,downstream_gene_variant,,ENST00000462882,;CRHR2,3_prime_UTR_variant,,ENST00000452278,;CRHR2,downstream_gene_variant,,ENST00000423776,;	324	86	45	SUCCESS
NEUROD6	63974	.	GRCh37	7	31378831	31378831	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	16	23	0	ENST00000297142.3:c.52T>A	p.Cys18Ser	p.C18S	ENST00000297142	NM_022728.3	18	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS5434.1	52	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCACATCT	NONE	.	.	hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,PIRSF_domain:PIRSF015618	.	.	ENSP00000297142	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297142	Transcript	.	.	ENSG00000164600	13804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	tolerated(0.43)	.	NDF6_HUMAN	NEUROD6	HGNC	.	.	UPI000000D77D	SNV	NEUROD6,missense_variant,p.Cys18Ser,ENST00000297142,;	375	23	25	SUCCESS
C7orf25	79020	.	GRCh37	7	42949411	42949411	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	71	115	0	ENST00000350427.4:c.1089G>A	p.Gly363=	p.G363=	ENST00000350427		363	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS47576.1	1263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTCCCAAA	NONE	.	.	Pfam_domain:PF07000,hmmpanther:PTHR13379	.	.	ENSP00000416290	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431882	Transcript	.	.	ENSG00000136197	21703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG025_HUMAN	C7orf25	HGNC	C9K0L6_HUMAN,C9JF90_HUMAN	.	UPI000159689A	SNV	C7orf25,synonymous_variant,p.%3D,ENST00000431882,;C7orf25,synonymous_variant,p.%3D,ENST00000438029,;C7orf25,synonymous_variant,p.%3D,ENST00000350427,;C7orf25,synonymous_variant,p.%3D,ENST00000447342,;C7orf25,downstream_gene_variant,,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;PSMA2,3_prime_UTR_variant,,ENST00000442788,;PSMA2,downstream_gene_variant,,ENST00000433579,;	1286	115	119	SUCCESS
ZNF733P	643955	.	GRCh37	7	62752706	62752706	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs71275256	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	43	0	ENST00000444809.1:n.763C>T		p.*255*	ENST00000444809				0	.	A:0	.	A:0	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE	.	TTTGCGGACCA	NONE	by1000G	.	.	A:0	.	.	A:0.001	4/4	.	.	.	.	.	.	.	.	rs551929383	4/4	PASS	ENST00000444809	Transcript	.	A:0.0002	ENSG00000185037	32473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	.	ZNF733P	HGNC	.	.	.	SNV	ZNF733P,non_coding_transcript_exon_variant,,ENST00000331425,;ZNF733P,non_coding_transcript_exon_variant,,ENST00000444809,;	763	43	30	SUCCESS
ZDHHC4	55146	.	GRCh37	7	6620253	6620253	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	79	213	1	ENST00000335965.6:c.61A>G	p.Ile21Val	p.I21V	ENST00000335965		21	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5352.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTATCTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF47	.	.	ENSP00000379934	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000396706	Transcript	.	.	ENSG00000136247	18471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.99)	.	ZDHC4_HUMAN	ZDHHC4	HGNC	C9J5I9_HUMAN	.	UPI0000048F5A	SNV	ZDHHC4,missense_variant,p.Ile21Val,ENST00000396707,;ZDHHC4,missense_variant,p.Ile21Val,ENST00000396709,;ZDHHC4,missense_variant,p.Ile21Val,ENST00000396706,;ZDHHC4,missense_variant,p.Ile21Val,ENST00000483589,;ZDHHC4,missense_variant,p.Ile21Val,ENST00000335965,;ZDHHC4,missense_variant,p.Ile21Val,ENST00000396713,;ZDHHC4,missense_variant,p.Ile21Val,ENST00000405731,;AC079742.4,intron_variant,,ENST00000434951,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000496017,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000489138,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000493944,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000474097,;ZDHHC4,upstream_gene_variant,,ENST00000474738,;	504	214	149	SUCCESS
PMS2CL	441194	.	GRCh37	7	6777161	6777161	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	88	0	ENST00000403974.2:n.540G>T		p.*180*	ENST00000403974				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTGGACTC	NONE	.	.	.	.	.	.	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000403974	Transcript	.	.	ENSG00000187953	30061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PMS2CL	HGNC	.	.	.	SNV	PMS2CL,non_coding_transcript_exon_variant,,ENST00000486256,;PMS2CL,upstream_gene_variant,,ENST00000431453,;PMS2CL,non_coding_transcript_exon_variant,,ENST00000403974,;	540	88	65	SUCCESS
AZIN1	51582	.	GRCh37	8	103842142	103842142	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	80	84	0	ENST00000337198.5:c.927A>T	p.Glu309Asp	p.E309D	ENST00000337198	NM_148174.2	309	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS6295.1	927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGTTCATC	NONE	.	.	Superfamily_domains:SSF50621,Pfam_domain:PF00278,Gene3D:2.40.37.10,hmmpanther:PTHR11482:SF7,hmmpanther:PTHR11482	.	.	ENSP00000337180	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000337198	Transcript	.	.	ENSG00000155096	16432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	AZIN1_HUMAN	AZIN1	HGNC	E5RJ16_HUMAN,E5RIB7_HUMAN	.	UPI00000722AD	SNV	AZIN1,missense_variant,p.Glu309Asp,ENST00000347770,;AZIN1,missense_variant,p.Glu309Asp,ENST00000337198,;AZIN1,downstream_gene_variant,,ENST00000521536,;AZIN1,non_coding_transcript_exon_variant,,ENST00000518697,;AZIN1,downstream_gene_variant,,ENST00000523071,;	2091	84	116	SUCCESS
TUSC3	7991	.	GRCh37	8	15397946	15397946	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764280802	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	38	0	ENST00000503731.1:c.7G>T	p.Ala3Ser	p.A3S	ENST00000503731	NM_006765.3	3	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS5994.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGCCCGG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM	.	.	ENSP00000424544	.	1/11	.	.	.	.	.	.	.	.	rs764280802	1/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Ala3Ser,ENST00000506802,;TUSC3,missense_variant,p.Ala3Ser,ENST00000382020,;TUSC3,missense_variant,p.Ala3Ser,ENST00000509380,;TUSC3,missense_variant,p.Ala3Ser,ENST00000503731,;TUSC3,intron_variant,,ENST00000503191,;TUSC3,missense_variant,p.Ala3Ser,ENST00000515859,;TUSC3,missense_variant,p.Ala3Ser,ENST00000510836,;	155	38	16	SUCCESS
CHRNA2	1135	.	GRCh37	8	27328628	27328628	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	11	128	0	ENST00000407991.1:c.-53G>A		p.*18*	ENST00000407991	NM_000742.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6059.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCATGGA	NONE	.	.	.	.	.	ENSP00000385026	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,5_prime_UTR_variant,,ENST00000518712,;CHRNA2,5_prime_UTR_variant,,ENST00000407991,;CHRNA2,5_prime_UTR_variant,,ENST00000524096,;CHRNA2,5_prime_UTR_variant,,ENST00000521921,;CHRNA2,5_prime_UTR_variant,,ENST00000520208,;CHRNA2,5_prime_UTR_variant,,ENST00000240132,;CHRNA2,5_prime_UTR_variant,,ENST00000520933,;CHRNA2,5_prime_UTR_variant,,ENST00000523695,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000520650,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,upstream_gene_variant,,ENST00000522008,;CHRNA2,upstream_gene_variant,,ENST00000520600,;	557	128	89	SUCCESS
SCARA5	286133	.	GRCh37	8	27779611	27779611	+	synonymous_variant	Silent	SNP	C	C	A	rs755499604	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	76	1	ENST00000354914.3:c.393G>T	p.Ala131=	p.A131=	ENST00000354914	NM_173833.5	131	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6064.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCGCGTC	NONE	byFrequency	.	hmmpanther:PTHR24021:SF17,hmmpanther:PTHR24021	.	.	ENSP00000346990	.	4/9	.	.	.	.	.	.	.	.	rs755499604	4/9	PASS	ENST00000354914	Transcript	.	.	ENSG00000168079	28701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCAR5_HUMAN	SCARA5	HGNC	.	.	UPI000015FA6D	SNV	SCARA5,synonymous_variant,p.%3D,ENST00000518030,;SCARA5,synonymous_variant,p.%3D,ENST00000354914,;SCARA5,synonymous_variant,p.%3D,ENST00000301906,;SCARA5,synonymous_variant,p.%3D,ENST00000524352,;SCARA5,intron_variant,,ENST00000380385,;	879	77	34	SUCCESS
GPR124	0	.	GRCh37	8	37693183	37693183	+	synonymous_variant	Silent	SNP	C	C	A	rs898277851	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	113	1	ENST00000412232.2:c.1945C>A	p.Arg649=	p.R649=	ENST00000412232	NM_032777.9	649	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6097.2	1945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCGAAAT	NONE	.	.	hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011	.	.	ENSP00000406367	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,synonymous_variant,p.%3D,ENST00000412232,;GPR124,intron_variant,,ENST00000315215,;	1958	114	53	SUCCESS
FAM150A	0	.	GRCh37	8	53477863	53477863	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	27	0	ENST00000358543.4:c.-47T>A		p.*16*	ENST00000358543	NM_207413.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6150.1	.	MUSE|VARSCANS	.	TCCCGACGCAG	NONE	.	.	.	.	.	ENSP00000351345	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000358543	Transcript	.	.	ENSG00000196711	33775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F150A_HUMAN	FAM150A	HGNC	.	.	UPI00001D6942	SNV	FAM150A,5_prime_UTR_variant,,ENST00000358543,;FAM150A,5_prime_UTR_variant,,ENST00000523939,;	205	27	21	SUCCESS
XKR4	114786	.	GRCh37	8	56015754	56015754	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	54	146	1	ENST00000327381.6:c.706G>T	p.Ala236Ser	p.A236S	ENST00000327381	NM_052898.1	236	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS34893.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCTACC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.55)	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,missense_variant,p.Ala236Ser,ENST00000327381,;	806	147	123	SUCCESS
COL15A1	1306	.	GRCh37	9	101798606	101798607	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	89	0	ENST00000375001.3:c.2337_2338insT	p.Met780TyrfsTer24	p.M780Yfs*24	ENST00000375001	NM_001855.4	779	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS35081.1	2337-2338	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGGGATGGA	NONE	.	.	hmmpanther:PTHR24023:SF398,hmmpanther:PTHR24023	.	.	ENSP00000364140	.	21/42	.	.	.	.	.	.	.	.	.	21/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	insertion	COL15A1,frameshift_variant,p.Met780TyrfsTer24,ENST00000375001,;COL15A1,upstream_gene_variant,,ENST00000496686,;	2760-2761	89	46	SUCCESS
PTGR1	22949	.	GRCh37	9	114332480	114332480	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs771352831	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	63	0	ENST00000309195.5:c.770del	p.Pro257GlnfsTer28	p.P257Qfs*28	ENST00000309195	NM_012212.3	257	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS6779.1	770	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCTCTGGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11695:SF5,hmmpanther:PTHR11695,TIGRFAM_domain:TIGR02825,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000385763	.	9/10	.	.	.	.	.	.	.	.	rs771352831	9/10	PASS	ENST00000407693	Transcript	.	.	ENSG00000106853	18429	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTGR1_HUMAN	PTGR1	HGNC	.	.	UPI000012E24A	deletion	PTGR1,frameshift_variant,p.Pro257GlnfsTer28,ENST00000538962,;PTGR1,frameshift_variant,p.Pro134GlnfsTer28,ENST00000238248,;PTGR1,frameshift_variant,p.Pro257GlnfsTer28,ENST00000407693,;PTGR1,frameshift_variant,p.Pro257GlnfsTer28,ENST00000309195,;ZNF483,intron_variant,,ENST00000358151,;RP11-16L21.7,upstream_gene_variant,,ENST00000450154,;PTGR1,frameshift_variant,p.Pro75GlnfsTer28,ENST00000466771,;PTGR1,3_prime_UTR_variant,,ENST00000374324,;	1033	63	66	SUCCESS
ZFP37	7539	.	GRCh37	9	115812084	115812084	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1247872334	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	61	144	0	ENST00000374227.3:c.201C>A	p.Asn67Lys	p.N67K	ENST00000374227		67	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS6787.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGTTGCA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF139,hmmpanther:PTHR24381,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000363344	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000374227	Transcript	.	.	ENSG00000136866	12863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0.01)	.	ZFP37_HUMAN	ZFP37	HGNC	.	.	UPI000013D04B	SNV	ZFP37,missense_variant,p.Asn82Lys,ENST00000553380,;ZFP37,missense_variant,p.Asn68Lys,ENST00000555206,;ZFP37,missense_variant,p.Asn67Lys,ENST00000374227,;	229	144	105	SUCCESS
OR1B1	347169	.	GRCh37	9	125391806	125391806	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	88	0	ENST00000304833.3:c.9C>T	p.Ser3=	p.S3=	ENST00000304833	NM_001004450.1	3	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35126.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCTCAT	NONE	.	.	hmmpanther:PTHR26451:SF95,hmmpanther:PTHR26451	.	.	ENSP00000303151	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304833	Transcript	.	.	ENSG00000171484	8181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1B1_HUMAN	OR1B1	HGNC	.	.	UPI0000041DFF	SNV	OR1B1,synonymous_variant,p.%3D,ENST00000304833,;RP11-64P14.7,intron_variant,,ENST00000419604,;RP11-64P14.7,intron_variant,,ENST00000431442,;	47	88	86	SUCCESS
NTNG2	84628	.	GRCh37	9	135117276	135117276	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	29	0	ENST00000393229.3:c.1371C>A	p.Asp457Glu	p.D457E	ENST00000393229	NM_032536.2	457	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS6946.1	1371	RADIA|MUTECT|MUSE	.	TGCGACGACGA	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,hmmpanther:PTHR10574,PROSITE_profiles:PS50026	.	.	ENSP00000376921	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000393229	Transcript	.	.	ENSG00000196358	14288	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NTNG2_HUMAN	NTNG2	HGNC	.	.	UPI0000367698	SNV	NTNG2,missense_variant,p.Asp449Glu,ENST00000393228,;NTNG2,missense_variant,p.Asp463Glu,ENST00000360670,;NTNG2,missense_variant,p.Asp457Glu,ENST00000393229,;NTNG2,non_coding_transcript_exon_variant,,ENST00000483055,;NTNG2,non_coding_transcript_exon_variant,,ENST00000490694,;	2147	29	10	SUCCESS
GPSM1	26086	.	GRCh37	9	139244159	139244159	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782446524	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	104	1	ENST00000440944.1:c.1399G>C	p.Glu467Gln	p.E467Q	ENST00000440944	NM_001145638.2	467	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS48055.1	1399	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGAGGGC	NONE	.	.	hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36	.	.	ENSP00000392828	.	11/14	.	.	.	.	.	.	.	.	rs782446524	11/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.37)	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,missense_variant,p.Glu467Gln,ENST00000440944,;GPSM1,missense_variant,p.Glu444Gln,ENST00000354753,;GPSM1,upstream_gene_variant,,ENST00000429455,;	1619	105	41	SUCCESS
TPRN	286262	.	GRCh37	9	140093451	140093451	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	102	0	ENST00000409012.4:c.1713C>T	p.Ser571=	p.S571=	ENST00000409012	NM_001128228.2	571	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS56594.1	1713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAGGAGCC	NONE	.	.	hmmpanther:PTHR21685:SF1,hmmpanther:PTHR21685,Pfam_domain:PF13914	.	.	ENSP00000387100	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000409012	Transcript	.	.	ENSG00000176058	26894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPRN_HUMAN	TPRN	HGNC	Q86WR5_HUMAN	.	UPI0001722188	SNV	TPRN,synonymous_variant,p.%3D,ENST00000409012,;TPRN,synonymous_variant,p.%3D,ENST00000333046,;TPRN,synonymous_variant,p.%3D,ENST00000321773,;TPRN,intron_variant,,ENST00000541945,;TPRN,upstream_gene_variant,,ENST00000477345,;	1800	102	53	SUCCESS
TRPM3	80036	.	GRCh37	9	73736204	73736204	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	79	0	ENST00000377110.3:c.67T>A	p.Trp23Arg	p.W23R	ENST00000377110		23	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS43835.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGGAAA	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000366314	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000377110	Transcript	.	.	ENSG00000083067	17992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.86)	.	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,missense_variant,p.Trp23Arg,ENST00000377111,;TRPM3,missense_variant,p.Trp23Arg,ENST00000377110,;TRPM3,intron_variant,,ENST00000423814,;TRPM3,intron_variant,,ENST00000357533,;TRPM3,intron_variant,,ENST00000354500,;	311	79	64	SUCCESS
C9orf40	55071	.	GRCh37	9	77567361	77567361	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1217053009	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	76	0	ENST00000376854.5:c.167G>A	p.Arg56His	p.R56H	ENST00000376854	NM_017998.2	56	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS6648.1	167	RADIA|MUSE	.	TTTTGCGCTTT	NONE	.	.	hmmpanther:PTHR16003:SF3,hmmpanther:PTHR16003	.	.	ENSP00000366050	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376854	Transcript	.	.	ENSG00000135045	23433	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	CI040_HUMAN	C9orf40	HGNC	.	.	UPI0000074360	SNV	C9orf40,missense_variant,p.Arg56His,ENST00000376854,;RP11-197P3.4,upstream_gene_variant,,ENST00000455609,;	442	76	33	SUCCESS
ZCCHC16	0	.	GRCh37	X	111698140	111698140	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	116	120	1	ENST00000340433.2:c.184A>T	p.Thr62Ser	p.T62S	ENST00000340433	NM_001004308.2	62	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS35369.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCACCCAG	NONE	.	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF8	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,missense_variant,p.Thr62Ser,ENST00000340433,;	414	121	262	SUCCESS
USP26	83844	.	GRCh37	X	132159790	132159790	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	15	0	ENST00000370832.1:c.2459G>T	p.Gly820Val	p.G820V	ENST00000370832	NM_031907.1	820	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14635.1	2459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTCCCTTA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF379,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000423390	.	6/6	.	.	.	.	.	.	.	.	COSM3558014	6/6	PASS	ENST00000511190	Transcript	.	.	ENSG00000134588	13485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.53)	.	tolerated(0.25)	1	UBP26_HUMAN	USP26	HGNC	.	.	UPI00000421FD	SNV	USP26,missense_variant,p.Gly820Val,ENST00000406273,;USP26,missense_variant,p.Gly820Val,ENST00000511190,;USP26,missense_variant,p.Gly820Val,ENST00000370832,;	2929	15	48	SUCCESS
MAGEA9B	728269	.	GRCh37	X	148665000	148665000	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	27	26	0	ENST00000243314.5:c.-90C>A		p.*30*	ENST00000243314	NM_001080790.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35423.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGGCCTC	NONE	.	.	.	.	.	ENSP00000243314	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000243314	Transcript	.	.	ENSG00000123584	31909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA9_HUMAN	MAGEA9B	HGNC	E5RJI2_HUMAN,E5RJ34_HUMAN,E5RH97_HUMAN,E5RFS8_HUMAN	.	UPI000012EB2B	SNV	MAGEA9B,5_prime_UTR_variant,,ENST00000243314,;	198	26	45	SUCCESS
TAF1	6872	.	GRCh37	X	70674056	70674056	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	61	98	0	ENST00000373790.4:c.4787T>C	p.Ile1596Thr	p.I1596T	ENST00000373790	NM_004606.3	1596	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS14412.1	4850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATTGTGA	NONE	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,Gene3D:1.20.920.10,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000276072	.	33/38	.	.	.	.	.	.	.	.	.	33/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0.02)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.Ile1596Thr,ENST00000373790,;TAF1,missense_variant,p.Ile1617Thr,ENST00000276072,;TAF1,missense_variant,p.Ile1617Thr,ENST00000423759,;TAF1,missense_variant,p.Ile1596Thr,ENST00000449580,;TAF1,non_coding_transcript_exon_variant,,ENST00000492404,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,upstream_gene_variant,,ENST00000482544,;TAF1,missense_variant,p.Ile251Thr,ENST00000437147,;TAF1,missense_variant,p.Ile251Thr,ENST00000373775,;	4860	98	71	SUCCESS
USP9Y	8287	.	GRCh37	Y	14951877	14951877	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	24	74	0	ENST00000338981.3:c.5425G>T	p.Glu1809Ter	p.E1809*	ENST00000338981	NM_004654.3	1809	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14781.1	5425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGAATGT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF371,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000342812	.	36/46	.	.	.	.	.	.	.	.	.	36/46	PASS	ENST00000338981	Transcript	1	.	ENSG00000114374	12633	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USP9Y_HUMAN	USP9Y	HGNC	.	.	UPI00001AE67D	SNV	USP9Y,stop_gained,p.Glu1809Ter,ENST00000338981,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,;	6370	74	31	SUCCESS
HPS1	3257	.	GRCh37	10	100189264	100189264	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	48	0	ENST00000325103.6:c.937+66C>A		p.*313*	ENST00000325103	NM_000195.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7475.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGATGTC	NONE	.	.	.	.	.	ENSP00000326649	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325103	Transcript	1	.	ENSG00000107521	5163	.	.	MODIFIER	10/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HPS1_HUMAN	HPS1	HGNC	.	.	UPI000006D5B0	SNV	HPS1,3_prime_UTR_variant,,ENST00000338546,;HPS1,3_prime_UTR_variant,,ENST00000414009,;HPS1,intron_variant,,ENST00000361490,;HPS1,intron_variant,,ENST00000359632,;HPS1,intron_variant,,ENST00000325103,;MIR4685,downstream_gene_variant,,ENST00000578185,;HPS1,intron_variant,,ENST00000478087,;HPS1,intron_variant,,ENST00000470095,;HPS1,intron_variant,,ENST00000467246,;HPS1,intron_variant,,ENST00000498219,;HPS1,downstream_gene_variant,,ENST00000480020,;HPS1,upstream_gene_variant,,ENST00000497527,;	.	48	38	SUCCESS
SEC31B	25956	.	GRCh37	10	102267799	102267799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	53	0	ENST00000370345.3:c.505G>A	p.Glu169Lys	p.E169K	ENST00000370345	NM_015490.3	169	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7495.1	505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTCTGGAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923,PROSITE_profiles:PS50294	.	.	ENSP00000359370	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0)	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,missense_variant,p.Glu172Lys,ENST00000370329,;SEC31B,missense_variant,p.Glu169Lys,ENST00000370345,;SEC31B,missense_variant,p.Glu169Lys,ENST00000451524,;SEC31B,missense_variant,p.Glu12Lys,ENST00000535773,;NDUFB8,3_prime_UTR_variant,,ENST00000531258,;SEC31B,missense_variant,p.Glu169Lys,ENST00000469546,;SEC31B,missense_variant,p.Glu168Lys,ENST00000462434,;NDUFB8,3_prime_UTR_variant,,ENST00000527595,;NDUFB8,3_prime_UTR_variant,,ENST00000557395,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;NDUFB8,3_prime_UTR_variant,,ENST00000529568,;SEC31B,3_prime_UTR_variant,,ENST00000480905,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000484848,;SEC31B,upstream_gene_variant,,ENST00000490567,;	603	53	64	SUCCESS
CPXM2	119587	.	GRCh37	10	125557598	125557598	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	18	94	0	ENST00000241305.3:c.783G>T	p.Glu261Asp	p.E261D	ENST00000241305	NM_198148.2	261	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS7637.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCTCATT	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Gene3D:2.60.120.260,Pfam_domain:PF00754,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45,PROSITE_profiles:PS50022	.	.	ENSP00000241305	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000241305	Transcript	.	.	ENSG00000121898	26977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	tolerated(0.32)	.	CPXM2_HUMAN	CPXM2	HGNC	.	.	UPI00001AE6BE	SNV	CPXM2,missense_variant,p.Glu261Asp,ENST00000241305,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	938	94	110	SUCCESS
C1QL3	389941	.	GRCh37	10	16562897	16562897	+	synonymous_variant	Silent	SNP	G	G	A	rs749672191	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	27	0	ENST00000298943.3:c.168C>T	p.Pro56=	p.P56=	ENST00000298943	NM_001010908.1	56	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31156.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGGGCAG	NONE	.	.	hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF24	.	.	ENSP00000298943	.	1/2	.	.	.	.	.	.	.	.	rs749672191	1/2	PASS	ENST00000298943	Transcript	.	.	ENSG00000165985	19359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QL3_HUMAN	C1QL3	HGNC	.	.	UPI000013E53F	SNV	C1QL3,synonymous_variant,p.%3D,ENST00000298943,;	1108	27	32	SUCCESS
GDF2	2658	.	GRCh37	10	48416588	48416588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	70	0	ENST00000249598.1:c.106A>G	p.Asn36Asp	p.N36D	ENST00000249598	NM_016204.1	36	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS7219.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTTTCCCC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127	.	.	ENSP00000249598	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,missense_variant,p.Asn36Asp,ENST00000249598,;	266	70	73	SUCCESS
SUPV3L1	6832	.	GRCh37	10	70967559	70967559	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	20	116	0	ENST00000359655.4:c.1787A>G	p.Gln596Arg	p.Q596R	ENST00000359655	NM_003171.3	596	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS7287.1	1787	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCAGTATA	NONE	.	.	hmmpanther:PTHR12131:SF1,hmmpanther:PTHR12131,Superfamily_domains:SSF52540	.	.	ENSP00000352678	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000359655	Transcript	.	.	ENSG00000156502	11471	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.4)	.	SUV3_HUMAN	SUPV3L1	HGNC	.	.	UPI000007428D	SNV	SUPV3L1,missense_variant,p.Gln596Arg,ENST00000359655,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000497254,;	1847	116	136	SUCCESS
TYSND1	219743	.	GRCh37	10	71902607	71902607	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs143461435	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	65	0	ENST00000287078.6:c.1300G>A	p.Glu434Lys	p.E434K	ENST00000287078	NM_173555.3	434	Gag/Aag	0	T:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS31213.1	1300	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCGCCTG	NONE	byCluster	.	Superfamily_domains:SSF50494,PIRSF_domain:PIRSF037989,Pfam_domain:PF13365,Gene3D:2.40.10.10,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0	.	T:0.0001	ENSP00000287078	.	3/4	.	.	.	.	.	.	.	.	rs143461435	3/4	PASS	ENST00000287078	Transcript	.	.	ENSG00000156521	28531	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.795)	.	tolerated(0.12)	.	TYSD1_HUMAN	TYSND1	HGNC	.	.	UPI0000160C9B	SNV	TYSND1,missense_variant,p.Glu434Lys,ENST00000287078,;TYSND1,intron_variant,,ENST00000335494,;SAR1A,downstream_gene_variant,,ENST00000373242,;TYSND1,splice_region_variant,,ENST00000494143,;TYSND1,splice_region_variant,,ENST00000479086,;	1300	65	48	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72518013	72518013	+	synonymous_variant	Silent	SNP	C	C	G	rs1259697796	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	84	0	ENST00000373207.1:c.3150C>G	p.Pro1050=	p.P1050=	ENST00000373207	NM_080722.3	1050	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7307.1	3159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCCCTACA	NONE	.	.	hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723	.	.	ENSP00000362304	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,synonymous_variant,p.%3D,ENST00000373208,;ADAMTS14,synonymous_variant,p.%3D,ENST00000373207,;	3159	84	86	SUCCESS
TAF3	83860	.	GRCh37	10	8051256	8051256	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	68	0	ENST00000344293.5:c.2531T>A	p.Val844Glu	p.V844E	ENST00000344293	NM_031923.3	844	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS41487.1	2531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGTGCGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321,Superfamily_domains:SSF57903	.	.	ENSP00000340271	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000344293	Transcript	.	.	ENSG00000165632	17303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	TAF3_HUMAN	TAF3	HGNC	.	.	UPI00004588FA	SNV	TAF3,missense_variant,p.Val844Glu,ENST00000344293,;	2737	68	74	SUCCESS
DYDC1	143241	.	GRCh37	10	82098285	82098285	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140462481	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	94	0	ENST00000372202.1:c.442G>A	p.Asp148Asn	p.D148N	ENST00000372202	NM_001269053.1	148	Gat/Aat	0	A:0	.	.	.	.	T	D/N	protein_coding	YES	CCDS7366.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATCGCTGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23356:SF4,hmmpanther:PTHR23356	.	A:0.0002	ENSP00000361278	.	7/8	.	.	.	.	.	.	.	.	rs140462481,COSM3440983	7/8	PASS	ENST00000372204	Transcript	.	.	ENSG00000170788	23460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.084)	.	deleterious(0.02)	0,1	DYDC1_HUMAN	DYDC1	HGNC	.	.	UPI0000070606	SNV	DYDC1,missense_variant,p.Asp148Asn,ENST00000421924,;DYDC1,missense_variant,p.Asp148Asn,ENST00000372204,;DYDC1,missense_variant,p.Asp148Asn,ENST00000372202,;DYDC1,missense_variant,p.Asp148Asn,ENST00000454362,;RP11-36D19.8,downstream_gene_variant,,ENST00000416657,;	607	94	111	SUCCESS
BMPR1A	657	.	GRCh37	10	88635674	88635674	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	32	0	ENST00000372037.3:c.-102C>G		p.*34*	ENST00000372037	NM_004329.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7378.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATCTTTTA	NONE	.	.	.	.	.	ENSP00000361107	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000372037	Transcript	1	.	ENSG00000107779	1076	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMR1A_HUMAN	BMPR1A	HGNC	.	.	UPI000006EB08	SNV	BMPR1A,5_prime_UTR_variant,,ENST00000372037,;BMPR1A,non_coding_transcript_exon_variant,,ENST00000480152,;	436	32	25	SUCCESS
PAPSS2	9060	.	GRCh37	10	89472858	89472858	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	51	151	0	ENST00000361175.4:c.172A>G	p.Ile58Val	p.I58V	ENST00000361175	NM_004670.3	58	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS44453.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGATAAGT	NONE	.	.	HAMAP:MF_00065,hmmpanther:PTHR11055,hmmpanther:PTHR11055:SF16,Gene3D:3.40.50.300,Pfam_domain:PF01583,TIGRFAM_domain:TIGR00455,Superfamily_domains:SSF52540	.	.	ENSP00000406157	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000456849	Transcript	1	.	ENSG00000198682	8604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.38)	.	PAPS2_HUMAN	PAPSS2	HGNC	.	.	UPI000002B182	SNV	PAPSS2,missense_variant,p.Ile62Val,ENST00000427144,;PAPSS2,missense_variant,p.Ile58Val,ENST00000456849,;PAPSS2,missense_variant,p.Ile58Val,ENST00000361175,;PAPSS2,non_coding_transcript_exon_variant,,ENST00000482258,;PAPSS2,non_coding_transcript_exon_variant,,ENST00000465996,;	435	151	152	SUCCESS
PLCE1	51196	.	GRCh37	10	96084326	96084326	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	83	0	ENST00000260766.3:c.6720+2T>C		p.X2240_splice	ENST00000260766	NM_016341.3	2240		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41552.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTAAAGT	NONE	.	.	.	.	.	ENSP00000360431	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	HIGH	30/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,splice_donor_variant,,ENST00000371380,;PLCE1,splice_donor_variant,,ENST00000260766,;PLCE1,splice_donor_variant,,ENST00000371375,;PLCE1,splice_donor_variant,,ENST00000371385,;NOC3L,intron_variant,,ENST00000543788,;PLCE1,upstream_gene_variant,,ENST00000464214,;	.	83	88	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100803985	100803985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	49	0	ENST00000298815.8:c.696G>T	p.Leu232Phe	p.L232F	ENST00000298815	NM_152432.2	232	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	.	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGCAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12552:SF3,hmmpanther:PTHR12552,Gene3D:1y2oA00,Superfamily_domains:SSF103657	.	.	ENSP00000298815	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000298815	Transcript	.	.	ENSG00000165895	26545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RHG42_HUMAN	ARHGAP42	HGNC	H0YDU1_HUMAN	.	UPI00005778C9	SNV	ARHGAP42,missense_variant,p.Leu198Phe,ENST00000524892,;ARHGAP42,missense_variant,p.Leu232Phe,ENST00000298815,;ARHGAP42,missense_variant,p.Leu88Phe,ENST00000531183,;snoU13,upstream_gene_variant,,ENST00000459511,;	699	49	63	SUCCESS
ABCG4	64137	.	GRCh37	11	119031060	119031060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	51	0	ENST00000307417.3:c.1561G>C	p.Gly521Arg	p.G521R	ENST00000307417	NM_022169.4	521	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS8415.1	1561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGGGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01061,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211	.	.	ENSP00000304111	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000307417	Transcript	.	.	ENSG00000172350	13884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ABCG4_HUMAN	ABCG4	HGNC	Q9NT30_HUMAN,E9PJ00_HUMAN	.	UPI000000D999	SNV	ABCG4,missense_variant,p.Gly521Arg,ENST00000307417,;ABCG4,missense_variant,p.Gly521Arg,ENST00000449422,;ABCG4,missense_variant,p.Gly521Arg,ENST00000531739,;AP002956.1,upstream_gene_variant,,ENST00000599663,;ABCG4,downstream_gene_variant,,ENST00000534402,;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;	1925	51	63	SUCCESS
USP2	9099	.	GRCh37	11	119228005	119228005	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	42	100	0	ENST00000260187.2:c.1622A>G	p.Tyr541Cys	p.Y541C	ENST00000260187	NM_004205.4	541	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS8422.1	1622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTAAACA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396,PROSITE_patterns:PS00973,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000260187	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000260187	Transcript	.	.	ENSG00000036672	12618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP2_HUMAN	USP2	HGNC	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN	.	UPI00001379D8	SNV	USP2,missense_variant,p.Tyr298Cys,ENST00000455332,;USP2,missense_variant,p.Tyr332Cys,ENST00000525735,;USP2,missense_variant,p.Tyr541Cys,ENST00000260187,;USP2,downstream_gene_variant,,ENST00000532613,;USP2,downstream_gene_variant,,ENST00000525189,;	1917	100	133	SUCCESS
SLC6A5	9152	.	GRCh37	11	20652251	20652251	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	47	114	0	ENST00000525748.1:c.1514T>C	p.Val505Ala	p.V505A	ENST00000525748	NM_004211.3	505	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7854.1	1514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTCACCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF107,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000434364	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000525748	Transcript	.	.	ENSG00000165970	11051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	SC6A5_HUMAN	SLC6A5	HGNC	.	.	UPI00004564A5	SNV	SLC6A5,missense_variant,p.Val505Ala,ENST00000525748,;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	1787	114	156	SUCCESS
OR8H2	390151	.	GRCh37	11	55873358	55873358	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	53	146	0	ENST00000313503.1:c.840T>G	p.Ile280Met	p.I280M	ENST00000313503	NM_001005200.1	280	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS31518.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATTGTGAT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	tolerated(0.26)	.	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.Ile280Met,ENST00000313503,;	840	146	170	SUCCESS
MRPL21	219927	.	GRCh37	11	68660463	68660463	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs1285583963	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	95	0	ENST00000362034.2:c.450-2A>G		p.X150_splice	ENST00000362034	NM_181515.1	150		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8186.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTAGAAG	NONE	.	.	.	.	.	ENSP00000354580	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362034	Transcript	.	.	ENSG00000197345	14479	.	.	HIGH	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM21_HUMAN	MRPL21	HGNC	F5H7V8_HUMAN,F5H4R5_HUMAN	.	UPI00001A95D2	SNV	MRPL21,splice_acceptor_variant,,ENST00000450904,;MRPL21,splice_acceptor_variant,,ENST00000362034,;MRPL21,splice_acceptor_variant,,ENST00000567045,;MRPL21,splice_acceptor_variant,,ENST00000541265,;MRPL21,splice_acceptor_variant,,ENST00000544567,;MRPL21,splice_acceptor_variant,,ENST00000565125,;MRPL21,splice_acceptor_variant,,ENST00000541279,;MRPL21,downstream_gene_variant,,ENST00000536637,;	.	95	70	SUCCESS
PDE2A	5138	.	GRCh37	11	72353416	72353416	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	32	101	0	ENST00000334456.5:c.72-46T>A		p.*24*	ENST00000334456	NM_002599.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8216.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGACCATG	NONE	.	.	.	.	.	ENSP00000334910	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334456	Transcript	.	.	ENSG00000186642	8777	.	.	MODIFIER	1/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE2A_HUMAN	PDE2A	HGNC	F5GXX2_HUMAN,C9JPD5_HUMAN	.	UPI000003B340	SNV	PDE2A,missense_variant,p.Val2Asp,ENST00000544570,;PDE2A,missense_variant,p.Val2Asp,ENST00000376450,;PDE2A,intron_variant,,ENST00000540345,;PDE2A,intron_variant,,ENST00000334456,;PDE2A,intron_variant,,ENST00000418754,;PDE2A,intron_variant,,ENST00000542969,;PDE2A,intron_variant,,ENST00000444035,;PDE2A,intron_variant,,ENST00000536458,;PDE2A,intron_variant,,ENST00000538749,;RP11-31L22.3,upstream_gene_variant,,ENST00000540912,;PDE2A,intron_variant,,ENST00000485058,;PDE2A,intron_variant,,ENST00000540380,;PDE2A,missense_variant,p.Val2Asp,ENST00000543750,;PDE2A,missense_variant,p.Val2Asp,ENST00000539367,;PDE2A,missense_variant,p.Val2Asp,ENST00000536308,;PDE2A,missense_variant,p.Val2Asp,ENST00000541998,;PDE2A,missense_variant,p.Val2Asp,ENST00000543575,;PDE2A,intron_variant,,ENST00000546038,;PDE2A,intron_variant,,ENST00000535701,;	.	102	112	SUCCESS
GRM5	2915	.	GRCh37	11	88386445	88386445	+	synonymous_variant	Silent	SNP	T	T	C	rs1400126122	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	33	95	0	ENST00000305447.4:c.1038A>G	p.Pro346=	p.P346=	ENST00000305447	NM_001143831.2	346	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44694.1	1038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTGGCCG	NONE	.	.	hmmpanther:PTHR24060:SF30,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000402912	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,synonymous_variant,p.%3D,ENST00000305447,;GRM5,synonymous_variant,p.%3D,ENST00000393297,;GRM5,synonymous_variant,p.%3D,ENST00000305432,;GRM5,synonymous_variant,p.%3D,ENST00000418177,;GRM5,synonymous_variant,p.%3D,ENST00000455756,;	1406	95	120	SUCCESS
FAT3	120114	.	GRCh37	11	92495256	92495256	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs568235366	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	38	118	0	ENST00000298047.6:c.3904G>T	p.Gly1302Ter	p.G1302*	ENST00000298047		1302	Gga/Tga	0	.	A:0.0008	.	A:0	.	T	G/*	protein_coding	YES	.	3904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACGGAAAG	NONE	by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	A:0	.	ENSP00000298047	A:0	4/27	.	.	.	.	.	.	.	.	rs568235366	4/27	PASS	ENST00000298047	Transcript	.	A:0.0002	ENSG00000165323	23112	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,stop_gained,p.Gly1302Ter,ENST00000298047,;FAT3,stop_gained,p.Gly1302Ter,ENST00000409404,;FAT3,stop_gained,p.Gly1152Ter,ENST00000525166,;RP11-203F8.1,intron_variant,,ENST00000529884,;	3921	118	148	SUCCESS
SRRM4	84530	.	GRCh37	12	119594393	119594393	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778786584	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	48	122	0	ENST00000267260.4:c.1626C>A	p.Ser542Arg	p.S542R	ENST00000267260	NM_194286.3	542	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS44994.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCCGCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000267260	.	13/13	.	.	.	.	.	.	.	.	rs778786584	13/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Ser542Arg,ENST00000267260,;	2014	122	154	SUCCESS
LRP6	4040	.	GRCh37	12	12356291	12356291	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1323100850	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	28	105	0	ENST00000261349.4:c.493C>T	p.Arg165Cys	p.R165C	ENST00000261349	NM_002336.2	165	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8647.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACGTTCTA	NONE	.	.	Superfamily_domains:SSF63825,SMART_domains:SM00135,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	.	.	ENSP00000261349	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000261349	Transcript	.	.	ENSG00000070018	6698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0)	.	LRP6_HUMAN	LRP6	HGNC	F5H0Z3_HUMAN,B3KQA9_HUMAN	.	UPI00001FB66C	SNV	LRP6,missense_variant,p.Arg14Cys,ENST00000535731,;LRP6,missense_variant,p.Arg165Cys,ENST00000543091,;LRP6,missense_variant,p.Arg165Cys,ENST00000261349,;LRP6,missense_variant,p.Arg30Cys,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;LRP6,upstream_gene_variant,,ENST00000545658,;	570	105	117	SUCCESS
NCOR2	9612	.	GRCh37	12	124914165	124914166	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	113	21	110	0	ENST00000405201.1:c.1142_1143del	p.Glu381AlafsTer22	p.E381Afs*22	ENST00000405201		381	gAG/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS41858.2	1142-1143	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCTGCTCTGAG	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	10/47	.	.	.	.	.	.	.	.	.	10/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	deletion	NCOR2,frameshift_variant,p.Glu381AlafsTer22,ENST00000356219,;NCOR2,frameshift_variant,p.Glu381AlafsTer22,ENST00000458234,;NCOR2,frameshift_variant,p.Glu381AlafsTer22,ENST00000420698,;NCOR2,frameshift_variant,p.Glu380AlafsTer22,ENST00000429285,;NCOR2,frameshift_variant,p.Glu381AlafsTer22,ENST00000405201,;NCOR2,frameshift_variant,p.Glu380AlafsTer22,ENST00000404621,;NCOR2,frameshift_variant,p.Glu381AlafsTer22,ENST00000397355,;NCOR2,5_prime_UTR_variant,,ENST00000404121,;NCOR2,downstream_gene_variant,,ENST00000542927,;NCOR2,downstream_gene_variant,,ENST00000448008,;NCOR2,non_coding_transcript_exon_variant,,ENST00000494460,;	1143-1144	110	134	SUCCESS
RERGL	79785	.	GRCh37	12	18242263	18242263	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	47	0	ENST00000229002.2:c.-46C>A		p.*16*	ENST00000229002	NM_024730.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8679.1	.	MUTECT|MUSE	.	ACTATGTGTAA	NONE	.	.	.	.	.	ENSP00000229002	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000229002	Transcript	.	.	ENSG00000111404	26213	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RERGL_HUMAN	RERGL	HGNC	.	.	UPI000000D9FA	SNV	RERGL,5_prime_UTR_variant,,ENST00000229002,;RERGL,intron_variant,,ENST00000536890,;RERGL,intron_variant,,ENST00000538724,;RERGL,intron_variant,,ENST00000540148,;RERGL,intron_variant,,ENST00000541632,;	162	47	45	SUCCESS
PKP2	5318	.	GRCh37	12	33031964	33031964	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	80	0	ENST00000070846.6:c.226A>C	p.Asn76His	p.N76H	ENST00000070846	NM_004572.3	76	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS8731.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATTTCCTG	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25	.	.	ENSP00000070846	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000070846	Transcript	.	.	ENSG00000057294	9024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	.	deleterious(0.04)	.	PKP2_HUMAN	PKP2	HGNC	.	.	UPI000013C576	SNV	PKP2,missense_variant,p.Asn76His,ENST00000340811,;PKP2,missense_variant,p.Asn76His,ENST00000070846,;	251	80	89	SUCCESS
ARID2	196528	.	GRCh37	12	46230676	46230676	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	57	150	0	ENST00000334344.6:c.925A>T	p.Asn309Tyr	p.N309Y	ENST00000334344	NM_152641.2	309	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS31783.1	925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTAATCGT	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Superfamily_domains:SSF48371	.	.	ENSP00000335044	.	8/21	.	.	.	.	.	.	.	.	COSM266035	8/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0)	1	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Asn309Tyr,ENST00000334344,;ARID2,missense_variant,p.Asn160Tyr,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000444670,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000480128,;	1097	150	155	SUCCESS
ARID2	196528	.	GRCh37	12	46254582	46254582	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	40	0	ENST00000334344.6:c.4774-2A>G		p.X1592_splice	ENST00000334344	NM_152641.2	1592		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31783.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGAACA	NONE	.	.	.	.	.	ENSP00000335044	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	15/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,splice_acceptor_variant,,ENST00000334344,;ARID2,splice_acceptor_variant,,ENST00000444670,;ARID2,splice_acceptor_variant,,ENST00000422737,;ARID2,splice_acceptor_variant,,ENST00000457135,;ARID2,splice_acceptor_variant,,ENST00000479608,;	.	40	64	SUCCESS
ZNF641	121274	.	GRCh37	12	48744062	48744062	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	12	0	ENST00000301042.3:c.-156-61T>C		p.*52*	ENST00000301042	NM_152320.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8763.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAAAAATGAGT	NONE	.	.	.	.	.	ENSP00000437832	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000544117	Transcript	.	.	ENSG00000167528	31834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN641_HUMAN	ZNF641	HGNC	F8VZV7_HUMAN,F8VZ73_HUMAN,F8VXJ5_HUMAN	.	UPI000013E6C6	SNV	ZNF641,5_prime_UTR_variant,,ENST00000544117,;ZNF641,5_prime_UTR_variant,,ENST00000550342,;ZNF641,intron_variant,,ENST00000301042,;ZNF641,intron_variant,,ENST00000550181,;ZNF641,intron_variant,,ENST00000548932,;ZNF641,intron_variant,,ENST00000549125,;ZNF641,intron_variant,,ENST00000547026,;ZNF641,intron_variant,,ENST00000448928,;ZNF641,upstream_gene_variant,,ENST00000546874,;RP11-370I10.6,upstream_gene_variant,,ENST00000548257,;	493	12	14	SUCCESS
ACVR1B	91	.	GRCh37	12	52374885	52374885	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	82	1	ENST00000257963.4:c.713C>A	p.Ser238Tyr	p.S238Y	ENST00000257963	NM_020328.3	238	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44894.2	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCTCGTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR23255:SF22,hmmpanther:PTHR23255,PROSITE_profiles:PS50011	.	.	ENSP00000442656	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000541224	Transcript	.	.	ENSG00000135503	172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ACV1B_HUMAN	ACVR1B	HGNC	F5H5Q2_HUMAN	.	UPI0001915052	SNV	ACVR1B,missense_variant,p.Ser238Tyr,ENST00000415850,;ACVR1B,missense_variant,p.Ser238Tyr,ENST00000426655,;ACVR1B,missense_variant,p.Ser238Tyr,ENST00000541224,;ACVR1B,missense_variant,p.Ser238Tyr,ENST00000257963,;ACVR1B,missense_variant,p.Ser186Tyr,ENST00000542485,;ACVR1B,downstream_gene_variant,,ENST00000536420,;ACVR1B,upstream_gene_variant,,ENST00000563121,;	756	83	100	SUCCESS
NEUROD4	58158	.	GRCh37	12	55420925	55420925	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	71	0	ENST00000242994.3:c.702A>C	p.Glu234Asp	p.E234D	ENST00000242994	NM_021191.2	234	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS8886.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAATCGTC	BUFFER|p.S236S|c.708C>T|3	.	.	hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF86,Pfam_domain:PF12533,PIRSF_domain:PIRSF015618	.	.	ENSP00000242994	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242994	Transcript	.	.	ENSG00000123307	13802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.41)	.	NDF4_HUMAN	NEUROD4	HGNC	Q8IW56_HUMAN	.	UPI000013CB1E	SNV	NEUROD4,missense_variant,p.Glu234Asp,ENST00000242994,;	1080	71	87	SUCCESS
BEST3	144453	.	GRCh37	12	70078068	70078068	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	8	0	ENST00000330891.5:c.482-5395A>T		p.*161*	ENST00000330891	NM_032735.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8992.2	.	MUTECT|MUSE	.	CAGAGTAAAAT	NONE	.	.	.	.	.	ENSP00000332413	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330891	Transcript	.	.	ENSG00000127325	17105	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BEST3_HUMAN	BEST3	HGNC	F8VVZ2_HUMAN	.	UPI000006E397	SNV	BEST3,3_prime_UTR_variant,,ENST00000266661,;BEST3,intron_variant,,ENST00000476098,;BEST3,intron_variant,,ENST00000553096,;BEST3,intron_variant,,ENST00000331471,;BEST3,intron_variant,,ENST00000330891,;BEST3,intron_variant,,ENST00000548658,;BEST3,intron_variant,,ENST00000488961,;BEST3,intron_variant,,ENST00000552295,;BEST3,downstream_gene_variant,,ENST00000393365,;BEST3,downstream_gene_variant,,ENST00000551160,;BEST3,downstream_gene_variant,,ENST00000533674,;BEST3,downstream_gene_variant,,ENST00000529843,;BEST3,intron_variant,,ENST00000547208,;	.	8	12	SUCCESS
MGAT4C	25834	.	GRCh37	12	86373990	86373990	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	40	98	0	ENST00000548651.1:c.514A>G	p.Ile172Val	p.I172V	ENST00000548651	NM_013244.3	172	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9030.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTATAACCA	NONE	.	.	hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF8,Pfam_domain:PF04666	.	.	ENSP00000474896	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000604798	Transcript	.	.	ENSG00000182050	30871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.669)	.	tolerated(0.06)	.	MGT4C_HUMAN	MGAT4C	HGNC	F8VWY2_HUMAN	.	UPI00001B002C	SNV	MGAT4C,missense_variant,p.Ile172Val,ENST00000548651,;MGAT4C,missense_variant,p.Ile172Val,ENST00000552808,;MGAT4C,missense_variant,p.Ile172Val,ENST00000332156,;MGAT4C,missense_variant,p.Ile172Val,ENST00000604798,;MGAT4C,missense_variant,p.Ile172Val,ENST00000547225,;MGAT4C,missense_variant,p.Ile172Val,ENST00000549405,;MGAT4C,missense_variant,p.Ile201Val,ENST00000393205,;MGAT4C,intron_variant,,ENST00000552435,;	1719	98	149	SUCCESS
TMCC3	57458	.	GRCh37	12	94976245	94976245	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	75	0	ENST00000261226.4:c.148C>G	p.Leu50Val	p.L50V	ENST00000261226	NM_020698.2	50	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS31877.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAGGTTGG	NONE	.	.	hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8	.	.	ENSP00000261226	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000261226	Transcript	.	.	ENSG00000057704	29199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.19)	.	TMCC3_HUMAN	TMCC3	HGNC	G3V207_HUMAN,F8VQF2_HUMAN	.	UPI00001FB2DD	SNV	TMCC3,missense_variant,p.Leu50Val,ENST00000261226,;TMCC3,missense_variant,p.Leu19Val,ENST00000551457,;TMCC3,missense_variant,p.Leu19Val,ENST00000548918,;	280	75	75	SUCCESS
METTL21C	196541	.	GRCh37	13	103346790	103346790	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs781253928	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	47	0	ENST00000267273.6:c.59C>G	p.Ser20Cys	p.S20C	ENST00000267273	NM_001010977.2	20	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS32003.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGAGCTG	NONE	byFrequency	.	hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614	.	.	ENSP00000267273	.	1/4	.	.	.	.	.	.	.	.	rs781253928	1/4	PASS	ENST00000267273	Transcript	.	.	ENSG00000139780	33717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.13)	.	MT21C_HUMAN	METTL21C	HGNC	.	.	UPI000016196F	SNV	METTL21C,missense_variant,p.Ser20Cys,ENST00000267273,;	65	47	63	SUCCESS
ZMYM5	9205	.	GRCh37	13	20399130	20399130	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	48	161	0	ENST00000337963.4:c.1497A>G	p.Thr499=	p.T499=	ENST00000337963	NM_001142684.1	499	acA/acG	0	.	.	.	.	.	C	T	protein_coding	.	.	1497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAATGTATC	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF30	.	.	ENSP00000337034	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000337963	Transcript	.	.	ENSG00000132950	13029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM5_HUMAN	ZMYM5	HGNC	H0YH25_HUMAN	.	UPI000178DE9C	SNV	ZMYM5,synonymous_variant,p.%3D,ENST00000337963,;ZMYM5,synonymous_variant,p.%3D,ENST00000502168,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000382909,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000535942,;	1762	161	195	SUCCESS
FREM2	341640	.	GRCh37	13	39266309	39266309	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	44	150	0	ENST00000280481.7:c.4828G>C	p.Glu1610Gln	p.E1610Q	ENST00000280481	NM_207361.4	1610	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS31960.1	4828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGAGTCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	.	tolerated(0.08)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Glu1610Gln,ENST00000280481,;	5044	150	156	SUCCESS
FNDC3A	22862	.	GRCh37	13	49742771	49742771	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759840570	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	58	137	0	ENST00000492622.2:c.1060A>G	p.Ile354Val	p.I354V	ENST00000492622	NM_001079673.1	354	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41886.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTATAAAG	NONE	byFrequency	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF38,hmmpanther:PTHR19900,PROSITE_profiles:PS50853	.	.	ENSP00000417257	.	10/26	.	.	.	.	.	.	.	.	rs759840570	10/26	PASS	ENST00000492622	Transcript	.	.	ENSG00000102531	20296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	FND3A_HUMAN	FNDC3A	HGNC	.	.	UPI0000229601	SNV	FNDC3A,missense_variant,p.Ile354Val,ENST00000541916,;FNDC3A,missense_variant,p.Ile354Val,ENST00000492622,;FNDC3A,missense_variant,p.Ile298Val,ENST00000398316,;FNDC3A,missense_variant,p.Ile354Val,ENST00000484074,;	1365	137	185	SUCCESS
MYCBP2	23077	.	GRCh37	13	77642923	77642923	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	70	0	ENST00000357337.6:c.11834G>C	p.Arg3945Thr	p.R3945T	ENST00000357337		3945	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	.	11834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTGGTA	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	70/83	.	.	.	.	.	.	.	.	.	70/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Arg3945Thr,ENST00000357337,;MYCBP2,missense_variant,p.Arg366Thr,ENST00000429715,;MYCBP2,missense_variant,p.Arg3945Thr,ENST00000544440,;MYCBP2,missense_variant,p.Arg3983Thr,ENST00000407578,;	11852	70	99	SUCCESS
MYCBP2	23077	.	GRCh37	13	77743838	77743838	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	467	215	619	0	ENST00000357337.6:c.5692C>G	p.Pro1898Ala	p.P1898A	ENST00000357337		1898	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	.	5692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGAATGT	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	39/83	.	.	.	.	.	.	.	.	.	39/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Pro1898Ala,ENST00000357337,;MYCBP2,missense_variant,p.Pro1898Ala,ENST00000544440,;MYCBP2,missense_variant,p.Pro1936Ala,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;	5710	619	683	SUCCESS
SOX21	11166	.	GRCh37	13	95363935	95363935	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	31	0	ENST00000376945.2:c.369C>T	p.Gly123=	p.G123=	ENST00000376945	NM_007084.2	123	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9473.1	369	MUTECT|MUSE	.	AGGCCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10270:SF207,hmmpanther:PTHR10270	.	.	ENSP00000366144	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000376945	Transcript	.	.	ENSG00000125285	11197	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX21_HUMAN	SOX21	HGNC	.	.	UPI000003F547	SNV	SOX21,synonymous_variant,p.%3D,ENST00000376945,;SOX21-AS1,upstream_gene_variant,,ENST00000438290,;	455	31	55	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414699	105414699	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	21	126	1	ENST00000333244.5:c.7089C>T	p.Thr2363=	p.T2363=	ENST00000333244	NM_138420.2	2363	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS45177.1	7089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGGTCTT	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,synonymous_variant,p.%3D,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7209	127	129	SUCCESS
ABHD4	63874	.	GRCh37	14	23072409	23072410	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	95	26	108	0	ENST00000428304.2:c.231dup	p.Gly78TrpfsTer44	p.G78Wfs*44	ENST00000428304	NM_022060.2	76	ggt/ggTt	0	.	.	.	.	.	T	G/GX	protein_coding	YES	CCDS9572.1	227-228	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATGGTTTTG	NONE	.	.	hmmpanther:PTHR10992:SF737,hmmpanther:PTHR10992,Gene3D:3.40.50.1820,Pfam_domain:PF12697,Superfamily_domains:SSF53474	.	.	ENSP00000414558	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000428304	Transcript	.	.	ENSG00000100439	20154	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABHD4_HUMAN	ABHD4	HGNC	F5H6T0_HUMAN,B4DW04_HUMAN	.	UPI00000493BB	insertion	ABHD4,frameshift_variant,p.Gly54TrpfsTer?,ENST00000542041,;ABHD4,frameshift_variant,p.Gly78TrpfsTer44,ENST00000428304,;ABHD4,intron_variant,,ENST00000216327,;ABHD4,downstream_gene_variant,,ENST00000545034,;CTD-2555K7.4,upstream_gene_variant,,ENST00000536432,;ABHD4,non_coding_transcript_exon_variant,,ENST00000544562,;ABHD4,frameshift_variant,p.Gly78TrpfsTer44,ENST00000418446,;ABHD4,non_coding_transcript_exon_variant,,ENST00000539344,;ABHD4,intron_variant,,ENST00000537243,;ABHD4,intron_variant,,ENST00000541962,;	297-298	108	121	SUCCESS
SLC22A17	51310	.	GRCh37	14	23815904	23815904	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs745718216	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	57	0	ENST00000206544.8:c.1570C>G	p.Arg524Gly	p.R524G	ENST00000206544	NM_020372.2	524	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS9593.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGGGTAG	NONE	.	.	hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216	.	.	ENSP00000380437	.	10/10	.	.	.	.	.	.	.	.	rs745718216	10/10	PASS	ENST00000397267	Transcript	.	.	ENSG00000092096	23095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.819)	.	deleterious(0.01)	.	S22AH_HUMAN	SLC22A17	HGNC	.	.	UPI0000126A49	SNV	SLC22A17,missense_variant,p.Arg506Gly,ENST00000354772,;SLC22A17,missense_variant,p.Arg524Gly,ENST00000206544,;SLC22A17,missense_variant,p.Arg524Gly,ENST00000397267,;SLC22A17,missense_variant,p.Arg395Gly,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,downstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000556803,;SLC22A17,downstream_gene_variant,,ENST00000557699,;	2033	57	36	SUCCESS
MYH7	4625	.	GRCh37	14	23884288	23884288	+	synonymous_variant	Silent	SNP	C	C	T	rs1353101205	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	36	0	ENST00000355349.3:c.5475G>A	p.Glu1825=	p.E1825=	ENST00000355349	NM_000257.2	1825	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS9601.1	5475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCTCATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000347507	.	37/40	.	.	.	.	.	.	.	.	.	37/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,synonymous_variant,p.%3D,ENST00000355349,;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,upstream_gene_variant,,ENST00000557368,;	5638	36	35	SUCCESS
PCK2	5106	.	GRCh37	14	24566238	24566238	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	69	0	ENST00000216780.4:c.167A>T	p.Gln56Leu	p.Q56L	ENST00000216780	NM_004563.2	56	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS9609.1	167	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTGCCAACCAG	NONE	.	.	Superfamily_domains:SSF68923,PIRSF_domain:PIRSF001348,Gene3D:3.40.449.10,Pfam_domain:PF00821,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452	.	.	ENSP00000216780	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.436)	.	deleterious(0.01)	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,missense_variant,p.Gln56Leu,ENST00000216780,;PCK2,missense_variant,p.Gln68Leu,ENST00000559250,;PCK2,missense_variant,p.Gln56Leu,ENST00000396973,;PCK2,5_prime_UTR_variant,,ENST00000545054,;PCK2,5_prime_UTR_variant,,ENST00000558096,;PCK2,5_prime_UTR_variant,,ENST00000559837,;PCK2,5_prime_UTR_variant,,ENST00000560736,;NRL,intron_variant,,ENST00000558280,;PCK2,intron_variant,,ENST00000561286,;NRL,intron_variant,,ENST00000561028,;NRL,upstream_gene_variant,,ENST00000396997,;PCK2,upstream_gene_variant,,ENST00000559171,;PCK2,non_coding_transcript_exon_variant,,ENST00000560657,;PCK2,3_prime_UTR_variant,,ENST00000560106,;PCK2,3_prime_UTR_variant,,ENST00000559584,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,upstream_gene_variant,,ENST00000559503,;	435	69	76	SUCCESS
KHNYN	23351	.	GRCh37	14	24906470	24906470	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	40	0	ENST00000251343.5:c.2016C>G	p.Ala672=	p.A672=	ENST00000251343		672	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS32058.1	2016	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCCTGCT	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28	.	.	ENSP00000251343	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000251343	Transcript	.	.	ENSG00000100441	20166	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KHNYN_HUMAN	KHNYN	HGNC	G3V3G3_HUMAN,G3V331_HUMAN	.	UPI000000CC1F	SNV	KHNYN,synonymous_variant,p.%3D,ENST00000556842,;KHNYN,synonymous_variant,p.%3D,ENST00000553935,;KHNYN,synonymous_variant,p.%3D,ENST00000554268,;KHNYN,synonymous_variant,p.%3D,ENST00000251343,;SDR39U1,downstream_gene_variant,,ENST00000399390,;SDR39U1,downstream_gene_variant,,ENST00000556523,;SDR39U1,downstream_gene_variant,,ENST00000555225,;SDR39U1,downstream_gene_variant,,ENST00000554698,;SDR39U1,downstream_gene_variant,,ENST00000555355,;SDR39U1,downstream_gene_variant,,ENST00000555365,;SDR39U1,downstream_gene_variant,,ENST00000556249,;SDR39U1,downstream_gene_variant,,ENST00000553343,;SDR39U1,downstream_gene_variant,,ENST00000538105,;SDR39U1,downstream_gene_variant,,ENST00000399395,;SDR39U1,downstream_gene_variant,,ENST00000553930,;SDR39U1,downstream_gene_variant,,ENST00000555830,;SDR39U1,downstream_gene_variant,,ENST00000555561,;KHNYN,non_coding_transcript_exon_variant,,ENST00000556255,;SDR39U1,downstream_gene_variant,,ENST00000554947,;SDR39U1,downstream_gene_variant,,ENST00000553546,;SDR39U1,downstream_gene_variant,,ENST00000556175,;SDR39U1,downstream_gene_variant,,ENST00000555778,;SDR39U1,downstream_gene_variant,,ENST00000556548,;SDR39U1,downstream_gene_variant,,ENST00000556707,;SDR39U1,downstream_gene_variant,,ENST00000544691,;SDR39U1,downstream_gene_variant,,ENST00000556262,;	2155	40	42	SUCCESS
PRPF39	55015	.	GRCh37	14	45584061	45584061	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	40	216	0	ENST00000355765.6:c.1955A>G	p.Tyr652Cys	p.Y652C	ENST00000355765	NM_017922.3	652	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9682.2	1955	RADIA|MUTECT|MUSE	.	TCAGTACAATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204	.	.	ENSP00000348010	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000355765	Transcript	.	.	ENSG00000185246	20314	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.039)	.	deleterious(0.01)	.	PRP39_HUMAN	PRPF39	HGNC	.	.	UPI00015BB2D5	SNV	PRPF39,missense_variant,p.Tyr652Cys,ENST00000355765,;FKBP3,downstream_gene_variant,,ENST00000396062,;FKBP3,downstream_gene_variant,,ENST00000216330,;SNORD127,downstream_gene_variant,,ENST00000458892,;PRPF39,splice_region_variant,,ENST00000554439,;PRPF39,splice_region_variant,,ENST00000424478,;PRPF39,splice_region_variant,,ENST00000554429,;PRPF39,splice_region_variant,,ENST00000477626,;PRPF39,splice_region_variant,,ENST00000554081,;PRPF39,non_coding_transcript_exon_variant,,ENST00000554785,;PRPF39,downstream_gene_variant,,ENST00000556718,;PRPF39,downstream_gene_variant,,ENST00000557477,;	2125	216	211	SUCCESS
PRPF39	55015	.	GRCh37	14	45584078	45584078	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	44	237	0	ENST00000355765.6:c.1972T>G	p.Trp658Gly	p.W658G	ENST00000355765	NM_017922.3	658	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS9682.2	1972	RADIA|MUTECT|MUSE	.	ATCCTTGGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204	.	.	ENSP00000348010	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000355765	Transcript	.	.	ENSG00000185246	20314	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	deleterious(0.01)	.	PRP39_HUMAN	PRPF39	HGNC	.	.	UPI00015BB2D5	SNV	PRPF39,missense_variant,p.Trp658Gly,ENST00000355765,;FKBP3,downstream_gene_variant,,ENST00000396062,;FKBP3,downstream_gene_variant,,ENST00000216330,;SNORD127,downstream_gene_variant,,ENST00000458892,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,non_coding_transcript_exon_variant,,ENST00000554785,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;PRPF39,downstream_gene_variant,,ENST00000556718,;PRPF39,downstream_gene_variant,,ENST00000557477,;	2142	237	230	SUCCESS
MAP4K5	11183	.	GRCh37	14	50904667	50904668	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	216	26	195	0	ENST00000013125.4:c.1767dup	p.Pro590ThrfsTer29	p.P590Tfs*29	ENST00000013125	NM_198794.2	589	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	.	1767-1768	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTGGTTTTT	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,Pfam_domain:PF00780,PIRSF_domain:PIRSF038172,SMART_domains:SM00036	.	.	ENSP00000013125	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000013125	Transcript	.	.	ENSG00000012983	6867	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	M4K5_HUMAN	MAP4K5	HGNC	G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN	.	UPI00015DFDAA	insertion	MAP4K5,frameshift_variant,p.Pro590ThrfsTer29,ENST00000013125,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000557124,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000554990,;	2086-2087	195	242	SUCCESS
KIAA0247	0	.	GRCh37	14	70171412	70171413	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	66	0	ENST00000342745.4:c.411_412delinsT	p.Leu138CysfsTer9	p.L138Cfs*9	ENST00000342745	NM_014734.3	137	gtGCtg/gtTtg	0	.	.	.	.	.	T	VL/VX	protein_coding	YES	CCDS9796.1	411-412	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CGTGGTGCTGTTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19325:SF6,hmmpanther:PTHR19325	.	.	ENSP00000344424	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000342745	Transcript	.	.	ENSG00000100647	19956	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0247_HUMAN	KIAA0247	HGNC	.	.	UPI00001394F6	substitution	KIAA0247,frameshift_variant,p.Leu138CysfsTer9,ENST00000342745,;KIAA0247,downstream_gene_variant,,ENST00000556993,;	724-725	66	76	SUCCESS
FAM189A1	23359	.	GRCh37	15	29415840	29415840	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	89	0	ENST00000261275.4:c.1322C>A	p.Ala441Asp	p.A441D	ENST00000261275	NM_015307.1	441	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS45198.1	1322	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGCAGAG	NONE	.	.	hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6	.	.	ENSP00000261275	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000261275	Transcript	.	.	ENSG00000104059	29075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.908)	.	tolerated(0.15)	.	F1891_HUMAN	FAM189A1	HGNC	H0YKM1_HUMAN	.	UPI0001641C10	SNV	FAM189A1,missense_variant,p.Ala441Asp,ENST00000261275,;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	1322	89	88	SUCCESS
RYR3	6263	.	GRCh37	15	33926872	33926872	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369597197	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	102	0	ENST00000389232.4:c.3113G>T	p.Arg1038Leu	p.R1038L	ENST00000389232	NM_001036.3	1038	cGg/cTg	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS45210.1	3113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGGGAAG	NONE	byFrequency|byCluster	.	Pfam_domain:PF02026,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	A:0.0001	ENSP00000373884	.	25/104	.	.	.	.	.	.	.	.	rs369597197	25/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Arg1038Leu,ENST00000389232,;RYR3,missense_variant,p.Arg1038Leu,ENST00000415757,;	3183	102	119	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40241361	40241361	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756692952	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	73	0	ENST00000263791.5:c.405C>A	p.Ser135Arg	p.S135R	ENST00000263791	NM_001013703.2	135	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS42016.1	405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCGAGCA	NONE	byFrequency	.	PROSITE_profiles:PS50908,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,Gene3D:3.10.110.10,PIRSF_domain:PIRSF000660,SMART_domains:SM00591,Superfamily_domains:SSF54495	.	.	ENSP00000263791	.	4/39	.	.	.	.	.	.	.	.	rs756692952	4/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	tolerated(0.26)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Ser135Arg,ENST00000382727,;EIF2AK4,missense_variant,p.Ser135Arg,ENST00000263791,;EIF2AK4,missense_variant,p.Ser135Arg,ENST00000559624,;EIF2AK4,upstream_gene_variant,,ENST00000560855,;EIF2AK4,downstream_gene_variant,,ENST00000560648,;snoU13,upstream_gene_variant,,ENST00000459610,;H3F3AP1,downstream_gene_variant,,ENST00000559984,;	448	73	76	SUCCESS
CGNL1	84952	.	GRCh37	15	57732594	57732594	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	131	0	ENST00000281282.5:c.1622A>G	p.Lys541Arg	p.K541R	ENST00000281282	NM_032866.4	541	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS10161.1	1622	RADIA|MUTECT|MUSE	.	CTTAAAGGGCC	NONE	.	.	hmmpanther:PTHR13140:SF357,hmmpanther:PTHR13140	.	.	ENSP00000281282	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000281282	Transcript	1	.	ENSG00000128849	25931	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.925)	.	tolerated(0.06)	.	CGNL1_HUMAN	CGNL1	HGNC	.	.	UPI000019B4EF	SNV	CGNL1,missense_variant,p.Lys541Arg,ENST00000281282,;CGNL1,downstream_gene_variant,,ENST00000559194,;	1700	131	120	SUCCESS
THAP10	56906	.	GRCh37	15	71175114	71175114	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs544136510	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	27	165	0	ENST00000249861.4:c.563G>A	p.Arg188His	p.R188H	ENST00000249861	NM_020147.3	188	cGt/cAt	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS10237.1	563	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACGGGGC	NONE	by1000G	.	.	T:0	.	ENSP00000249861	T:0	2/3	.	.	.	.	.	.	.	.	rs544136510,COSM1478327	2/3	PASS	ENST00000249861	Transcript	.	T:0.0002	ENSG00000129028	23193	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.001)	T:0.001	tolerated(0.35)	0,1	THA10_HUMAN	THAP10	HGNC	.	.	UPI0000071917	SNV	THAP10,missense_variant,p.Arg58His,ENST00000560604,;THAP10,missense_variant,p.Arg188His,ENST00000249861,;LRRC49,intron_variant,,ENST00000544974,;LRRC49,intron_variant,,ENST00000558546,;LRRC49,intron_variant,,ENST00000558799,;	1076	165	168	SUCCESS
MCTP2	55784	.	GRCh37	15	94945187	94945187	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	29	132	0	ENST00000357742.4:c.2024T>A	p.Met675Lys	p.M675K	ENST00000357742	NM_018349.3	675	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS32338.1	2024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAATGCAGT	NONE	.	.	hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5	.	.	ENSP00000350377	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.02)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Met263Lys,ENST00000557742,;MCTP2,missense_variant,p.Met263Lys,ENST00000331706,;MCTP2,missense_variant,p.Met675Lys,ENST00000357742,;MCTP2,missense_variant,p.Met675Lys,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000557505,;	2024	132	151	SUCCESS
IGF1R	3480	.	GRCh37	15	99467196	99467196	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	32	114	0	ENST00000268035.6:c.2577T>A	p.Asn859Lys	p.N859K	ENST00000268035	NM_000875.3	859	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS10378.1	2577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATGGATT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000268035	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Asn859Lys,ENST00000558762,;IGF1R,missense_variant,p.Asn859Lys,ENST00000268035,;IGF1R,upstream_gene_variant,,ENST00000560972,;IGF1R,non_coding_transcript_exon_variant,,ENST00000560343,;IGF1R,downstream_gene_variant,,ENST00000561049,;IGF1R,downstream_gene_variant,,ENST00000560144,;	3188	114	158	SUCCESS
DNAH3	55567	.	GRCh37	16	21080830	21080830	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753509012	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	141	0	ENST00000261383.3:c.3287T>C	p.Ile1096Thr	p.I1096T	ENST00000261383	NM_017539.1	1096	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS10594.1	3287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGATTGGT	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	23/62	.	.	.	.	.	.	.	.	rs753509012	23/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Ile1096Thr,ENST00000261383,;DNAH3,missense_variant,p.Ile1096Thr,ENST00000415178,;	3287	141	108	SUCCESS
PKD1	5310	.	GRCh37	16	2149932	2149932	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201780393	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	59	147	0	ENST00000262304.4:c.9853G>A	p.Val3285Ile	p.V3285I	ENST00000262304	NM_001009944.2	3285	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS32369.1	9853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Prints_domain:PR00500	.	.	ENSP00000262304	.	29/46	.	.	.	.	.	.	.	.	rs201780393,CM014078	29/46	PASS	ENST00000262304	Transcript	.	.	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Val3285Ile,ENST00000262304,;PKD1,missense_variant,p.Val486Ile,ENST00000567946,;PKD1,missense_variant,p.Val3285Ile,ENST00000423118,;RP11-304L19.1,downstream_gene_variant,,ENST00000570072,;RP11-304L19.3,upstream_gene_variant,,ENST00000565937,;RP11-304L19.1,downstream_gene_variant,,ENST00000563284,;PKD1,non_coding_transcript_exon_variant,,ENST00000570193,;PKD1,non_coding_transcript_exon_variant,,ENST00000566905,;PKD1,upstream_gene_variant,,ENST00000566784,;PKD1,downstream_gene_variant,,ENST00000561991,;PKD1,downstream_gene_variant,,ENST00000475889,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,non_coding_transcript_exon_variant,,ENST00000415938,;PKD1,non_coding_transcript_exon_variant,,ENST00000486339,;PKD1,non_coding_transcript_exon_variant,,ENST00000496574,;PKD1,non_coding_transcript_exon_variant,,ENST00000570253,;PKD1,non_coding_transcript_exon_variant,,ENST00000562297,;PKD1,non_coding_transcript_exon_variant,,ENST00000483731,;PKD1,non_coding_transcript_exon_variant,,ENST00000480227,;PKD1,non_coding_transcript_exon_variant,,ENST00000471603,;PKD1,downstream_gene_variant,,ENST00000565639,;PKD1,downstream_gene_variant,,ENST00000483814,;PKD1,downstream_gene_variant,,ENST00000469851,;PKD1,downstream_gene_variant,,ENST00000474088,;	10062	147	139	SUCCESS
XPO6	23214	.	GRCh37	16	28146641	28146641	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs749921443	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	67	1	ENST00000304658.5:c.1339G>T	p.Glu447Ter	p.E447*	ENST00000304658	NM_015171.3	447	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42135.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCGTACC	NONE	byFrequency	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR21452	.	.	ENSP00000302790	.	10/24	.	.	.	.	.	.	.	.	rs749921443	10/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,stop_gained,p.Glu447Ter,ENST00000304658,;XPO6,stop_gained,p.Glu433Ter,ENST00000565698,;XPO6,non_coding_transcript_exon_variant,,ENST00000564337,;XPO6,non_coding_transcript_exon_variant,,ENST00000563138,;XPO6,non_coding_transcript_exon_variant,,ENST00000567842,;XPO6,non_coding_transcript_exon_variant,,ENST00000565284,;XPO6,upstream_gene_variant,,ENST00000564905,;XPO6,upstream_gene_variant,,ENST00000562408,;	1840	68	80	SUCCESS
SRCAP	10847	.	GRCh37	16	30749946	30749946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	52	0	ENST00000262518.4:c.8585G>T	p.Arg2862Met	p.R2862M	ENST00000262518	NM_006662.2	2862	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS10689.2	8585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,SMART_domains:SM00384,Prints_domain:PR00929	.	.	ENSP00000262518	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Arg2862Met,ENST00000262518,;SRCAP,missense_variant,p.Arg2704Met,ENST00000344771,;SRCAP,missense_variant,p.Arg2800Met,ENST00000395059,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Arg2685Met,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	8970	52	89	SUCCESS
SRCAP	10847	.	GRCh37	16	30749947	30749947	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	50	0	ENST00000262518.4:c.8586G>T	p.Arg2862Ser	p.R2862S	ENST00000262518	NM_006662.2	2862	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS10689.2	8586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,SMART_domains:SM00384,Prints_domain:PR00929	.	.	ENSP00000262518	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Arg2862Ser,ENST00000262518,;SRCAP,missense_variant,p.Arg2704Ser,ENST00000344771,;SRCAP,missense_variant,p.Arg2800Ser,ENST00000395059,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Arg2685Ser,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	8971	50	89	SUCCESS
ZNF75A	7627	.	GRCh37	16	3367850	3367850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	51	0	ENST00000574298.1:c.872A>T	p.His291Leu	p.H291L	ENST00000574298	NM_153028.2	291	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS10501.1	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGACACCAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF11,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000459566	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000574298	Transcript	.	.	ENSG00000162086	13146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN75A_HUMAN	ZNF75A	HGNC	I3L2I5_HUMAN	.	UPI0000071E9B	SNV	ZNF75A,missense_variant,p.His291Leu,ENST00000574298,;ZNF75A,downstream_gene_variant,,ENST00000572999,;ZNF75A,non_coding_transcript_exon_variant,,ENST00000498240,;ZNF75A,downstream_gene_variant,,ENST00000571101,;ZNF75A,downstream_gene_variant,,ENST00000575253,;	1345	51	70	SUCCESS
AARS	0	.	GRCh37	16	70301705	70301705	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs561829699	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	63	0	ENST00000261772.8:c.1079C>T	p.Ala360Val	p.A360V	ENST00000261772	NM_001605.2	360	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32474.1	1079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGCATCT	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344,Pfam_domain:PF01411,Superfamily_domains:0049182	.	.	ENSP00000261772	.	9/21	.	.	.	.	.	.	.	.	rs561829699	9/21	PASS	ENST00000261772	Transcript	.	.	ENSG00000090861	20	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	tolerated(0.68)	.	SYAC_HUMAN	AARS	HGNC	.	.	UPI0000169F0B	SNV	AARS,missense_variant,p.Ala360Val,ENST00000261772,;RN7SL407P,upstream_gene_variant,,ENST00000583724,;AARS,upstream_gene_variant,,ENST00000569790,;AARS,upstream_gene_variant,,ENST00000564359,;AARS,upstream_gene_variant,,ENST00000566969,;	1223	63	56	SUCCESS
ADAD2	161931	.	GRCh37	16	84229451	84229451	+	synonymous_variant	Silent	SNP	G	G	A	rs754051500	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	81	0	ENST00000315906.5:c.1083G>A	p.Pro361=	p.P361=	ENST00000315906	NM_001145400.1	361	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10944.1	1329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGCACAG	NONE	byFrequency	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000268624	.	8/11	.	.	.	.	.	.	.	.	rs754051500	8/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,synonymous_variant,p.%3D,ENST00000315906,;ADAD2,synonymous_variant,p.%3D,ENST00000268624,;ADAD2,downstream_gene_variant,,ENST00000567685,;RP11-486L19.2,intron_variant,,ENST00000569834,;RP11-486L19.2,intron_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,intron_variant,,ENST00000566526,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,downstream_gene_variant,,ENST00000564169,;	1422	81	64	SUCCESS
TCF25	22980	.	GRCh37	16	89965023	89965023	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144328773	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	31	0	ENST00000263346.8:c.1081C>T	p.Arg361Cys	p.R361C	ENST00000263346	NM_014972.2	361	Cgc/Tgc	0	A:0	A:0.0008	.	A:0.0029	.	T	R/C	protein_coding	YES	CCDS10987.1	1081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCGCACG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22684:SF0,hmmpanther:PTHR22684,Gene3D:1.25.40.10,Pfam_domain:PF04910,Superfamily_domains:SSF48452	A:0	A:0.0009	ENSP00000263346	A:0.002	10/18	.	.	.	.	.	.	.	.	rs144328773	10/18	PASS	ENST00000263346	Transcript	.	A:0.0010	ENSG00000141002	29181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	TCF25_HUMAN	TCF25	HGNC	.	.	UPI000012A80B	SNV	TCF25,missense_variant,p.Arg6Cys,ENST00000562193,;TCF25,missense_variant,p.Arg126Cys,ENST00000263347,;TCF25,missense_variant,p.Arg165Cys,ENST00000568409,;TCF25,missense_variant,p.Arg361Cys,ENST00000263346,;TCF25,missense_variant,p.Arg223Cys,ENST00000562256,;TCF25,downstream_gene_variant,,ENST00000568412,;TCF25,downstream_gene_variant,,ENST00000561958,;TCF25,downstream_gene_variant,,ENST00000566751,;TCF25,non_coding_transcript_exon_variant,,ENST00000563636,;TCF25,non_coding_transcript_exon_variant,,ENST00000562184,;TCF25,non_coding_transcript_exon_variant,,ENST00000570116,;TCF25,non_coding_transcript_exon_variant,,ENST00000566158,;TCF25,downstream_gene_variant,,ENST00000568870,;	1137	31	19	SUCCESS
MYH8	4626	.	GRCh37	17	10323447	10323447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753981095	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	43	100	0	ENST00000403437.2:c.98C>T	p.Pro33Leu	p.P33L	ENST00000403437	NM_002472.2	33	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11153.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACGGCTTG	NONE	.	.	hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140	.	.	ENSP00000384330	.	3/40	.	.	.	.	.	.	.	.	rs753981095	3/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.03)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Pro33Leu,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	193	100	143	SUCCESS
NCOR1	9611	.	GRCh37	17	15976836	15976836	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	56	0	ENST00000268712.3:c.3718G>T	p.Glu1240Ter	p.E1240*	ENST00000268712	NM_006311.3	1240	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11175.1	3718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCATGAG	NONE	.	.	hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	.	.	ENSP00000268712	.	28/46	.	.	.	.	.	.	.	.	.	28/46	PASS	ENST00000268712	Transcript	.	.	ENSG00000141027	7672	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOR1_HUMAN	NCOR1	HGNC	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN	.	UPI000013D7D5	SNV	NCOR1,stop_gained,p.Glu1256Ter,ENST00000395851,;NCOR1,stop_gained,p.Glu1240Ter,ENST00000268712,;NCOR1,intron_variant,,ENST00000395857,;NCOR1,intron_variant,,ENST00000395849,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;	3976	56	55	SUCCESS
CCDC144A	9720	.	GRCh37	17	16667283	16667283	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs558127337	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	96	261	0	ENST00000360524.8:c.3892A>G	p.Asn1298Asp	p.N1298D	ENST00000360524	NM_014695.1	1298	Aat/Gat	0	.	T:0	.	T:0	.	G	N/D	protein_coding	YES	CCDS45621.1	3892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTAATGAG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF0,Pfam_domain:PF12001	T:0	.	ENSP00000439262	T:0	15/27	.	.	.	.	.	.	.	.	rs558127337	15/27	PASS	ENST00000443444	Transcript	.	T:0.0002	ENSG00000170160	29072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	T:0.001	tolerated(0.1)	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,missense_variant,p.Asn1298Asp,ENST00000443444,;CCDC144A,missense_variant,p.Asn1298Asp,ENST00000360524,;CCDC144A,missense_variant,p.Asn1064Asp,ENST00000456009,;CCDC144A,missense_variant,p.Asn1298Asp,ENST00000399273,;RP11-219A15.1,missense_variant,p.Asn1298Asp,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;	4032	261	318	SUCCESS
TRIM16L	147166	.	GRCh37	17	18602751	18602751	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	25	0	ENST00000449552.2:c.-219+163T>C		p.*73*	ENST00000449552				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32588.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATGGAAA	NONE	.	.	.	.	.	ENSP00000461386	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449552	Transcript	.	.	ENSG00000108448	32670	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR16L_HUMAN	TRIM16L	HGNC	I3L3K9_HUMAN,I3L2F3_HUMAN,I3L1X9_HUMAN	.	UPI0000199A7B	SNV	TRIM16L,5_prime_UTR_variant,,ENST00000571708,;TRIM16L,5_prime_UTR_variant,,ENST00000395902,;TRIM16L,5_prime_UTR_variant,,ENST00000572555,;TRIM16L,intron_variant,,ENST00000449552,;TRIM16L,non_coding_transcript_exon_variant,,ENST00000449697,;TRIM16L,intron_variant,,ENST00000581904,;TRIM16L,upstream_gene_variant,,ENST00000578086,;	.	25	17	SUCCESS
SLC5A10	125206	.	GRCh37	17	18862513	18862513	+	synonymous_variant	Silent	SNP	C	C	A	rs370923912	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	55	0	ENST00000395645.3:c.249C>A	p.Gly83=	p.G83=	ENST00000395645	NM_001042450.2	83	ggC/ggA	0	T:0.0002	.	.	.	.	A	G	protein_coding	YES	CCDS11201.2	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCGCGGC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF57,hmmpanther:PTHR11819,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813	.	T:0.0001	ENSP00000379008	.	3/15	.	.	.	.	.	.	.	.	rs370923912	3/15	PASS	ENST00000395647	Transcript	.	.	ENSG00000154025	23155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC5AA_HUMAN	SLC5A10	HGNC	.	.	UPI00001401D2	SNV	SLC5A10,synonymous_variant,p.%3D,ENST00000395645,;SLC5A10,synonymous_variant,p.%3D,ENST00000417251,;SLC5A10,synonymous_variant,p.%3D,ENST00000317977,;SLC5A10,synonymous_variant,p.%3D,ENST00000395647,;SLC5A10,synonymous_variant,p.%3D,ENST00000395643,;SLC5A10,synonymous_variant,p.%3D,ENST00000395642,;	290	56	60	SUCCESS
SLC5A10	125206	.	GRCh37	17	18872377	18872377	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1215372222	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	41	0	ENST00000395645.3:c.466G>A	p.Ala156Thr	p.A156T	ENST00000395645	NM_001042450.2	156	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11201.2	466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACGCGGGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF57,hmmpanther:PTHR11819,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813	.	.	ENSP00000379008	.	6/15	.	.	.	.	.	.	.	.	COSM1128803	6/15	PASS	ENST00000395647	Transcript	.	.	ENSG00000154025	23155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.626)	.	deleterious(0)	1	SC5AA_HUMAN	SLC5A10	HGNC	.	.	UPI00001401D2	SNV	SLC5A10,missense_variant,p.Ala156Thr,ENST00000417251,;SLC5A10,missense_variant,p.Ala156Thr,ENST00000395647,;SLC5A10,missense_variant,p.Ala156Thr,ENST00000395643,;SLC5A10,missense_variant,p.Ala100Thr,ENST00000395642,;SLC5A10,missense_variant,p.Ala156Thr,ENST00000395645,;SLC5A10,missense_variant,p.Ala100Thr,ENST00000317977,;FAM83G,3_prime_UTR_variant,,ENST00000388995,;FAM83G,downstream_gene_variant,,ENST00000585154,;FAM83G,downstream_gene_variant,,ENST00000345041,;	507	41	37	SUCCESS
NOS2	4843	.	GRCh37	17	26096596	26096596	+	synonymous_variant	Silent	SNP	C	C	T	rs759255233	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	63	164	0	ENST00000313735.6:c.1824G>A	p.Ser608=	p.S608=	ENST00000313735	NM_000625.4	608	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11223.1	1824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGCGATTT	NONE	.	.	PROSITE_profiles:PS50902,hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Pfam_domain:PF00258,Gene3D:3.40.50.360,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218	.	.	ENSP00000327251	.	16/27	.	.	.	.	.	.	.	.	rs759255233,COSM1520356	16/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,synonymous_variant,p.%3D,ENST00000313735,;	2058	164	211	SUCCESS
SARM1	23098	.	GRCh37	17	26715488	26715488	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	60	0	ENST00000457710.3:c.1751T>G	p.Val584Gly	p.V584G	ENST00000457710	NM_015077.3	584	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	.	1751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTGTTGG	NONE	.	.	Superfamily_domains:SSF52200,SMART_domains:SM00255,Pfam_domain:PF13676,Gene3D:3.40.50.10140,hmmpanther:PTHR22998	.	.	ENSP00000406738	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000457710	Transcript	.	.	ENSG00000004139	17074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0)	.	.	SARM1	HGNC	.	.	UPI0000042801	SNV	SARM1,missense_variant,p.Val584Gly,ENST00000457710,;SARM1,missense_variant,p.Val43Gly,ENST00000579593,;SARM1,missense_variant,p.Val151Gly,ENST00000578128,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;SARM1,non_coding_transcript_exon_variant,,ENST00000003834,;SARM1,non_coding_transcript_exon_variant,,ENST00000580711,;SARM1,non_coding_transcript_exon_variant,,ENST00000577870,;SARM1,downstream_gene_variant,,ENST00000582323,;	2222	60	78	SUCCESS
SLFN11	91607	.	GRCh37	17	33690013	33690013	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	47	129	0	ENST00000308377.4:c.814A>G	p.Arg272Gly	p.R272G	ENST00000308377	NM_152270.3	272	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS11294.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTTCTCA	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Pfam_domain:PF04326	.	.	ENSP00000378067	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.3)	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,missense_variant,p.Arg272Gly,ENST00000394566,;SLFN11,missense_variant,p.Arg272Gly,ENST00000308377,;SLFN11,downstream_gene_variant,,ENST00000591682,;SLFN11,downstream_gene_variant,,ENST00000430814,;SLFN11,downstream_gene_variant,,ENST00000589811,;SLFN11,downstream_gene_variant,,ENST00000427966,;SLFN11,downstream_gene_variant,,ENST00000592122,;SLFN11,downstream_gene_variant,,ENST00000588579,;SLFN11,downstream_gene_variant,,ENST00000441608,;SLFN11,downstream_gene_variant,,ENST00000498396,;SLFN11,downstream_gene_variant,,ENST00000589562,;SLFN11,upstream_gene_variant,,ENST00000586099,;	1087	130	171	SUCCESS
KRT10	3858	.	GRCh37	17	38975326	38975326	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	118	0	ENST00000269576.5:c.1461C>A	p.His487Gln	p.H487Q	ENST00000269576	NM_000421.3	487	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS11377.1	1461	RADIA|SOMATICSNIPER|VARSCANS	.	CCGCCGTGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF137,hmmpanther:PTHR23239	.	.	ENSP00000269576	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000269576	Transcript	.	.	ENSG00000186395	6413	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.6)	.	K1C10_HUMAN	KRT10	HGNC	.	.	UPI000013D842	SNV	KRT10,missense_variant,p.His487Gln,ENST00000269576,;TMEM99,upstream_gene_variant,,ENST00000436612,;TMEM99,upstream_gene_variant,,ENST00000301665,;TMEM99,upstream_gene_variant,,ENST00000496847,;	1471	118	103	SUCCESS
KRT31	3881	.	GRCh37	17	39553799	39553799	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	63	0	ENST00000251645.2:c.-8C>A		p.*3*	ENST00000251645	NM_002277.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11391.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGGAGGG	NONE	.	.	.	.	.	ENSP00000251645	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000251645	Transcript	.	.	ENSG00000094796	6448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1H1_HUMAN	KRT31	HGNC	Q16275_HUMAN	.	UPI000006F564	SNV	KRT31,5_prime_UTR_variant,,ENST00000251645,;AC003958.2,upstream_gene_variant,,ENST00000430006,;AC003958.2,upstream_gene_variant,,ENST00000432258,;	46	63	87	SUCCESS
LRRC37A2	474170	.	GRCh37	17	44594571	44594571	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	438	170	549	0	ENST00000333412.3:c.2610-157G>A		p.*870*	ENST00000333412	NM_001006607.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42353.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGAATTG	NONE	.	.	.	.	.	ENSP00000459551	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000576629	Transcript	.	.	ENSG00000238083	32404	.	.	MODIFIER	2/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L37A2_HUMAN	LRRC37A2	HGNC	.	.	UPI0000E59258	SNV	ARL17A,missense_variant,p.Ser185Leu,ENST00000337845,;ARL17A,synonymous_variant,p.%3D,ENST00000329240,;ARL17A,synonymous_variant,p.%3D,ENST00000445552,;LRRC37A2,intron_variant,,ENST00000333412,;LRRC37A2,intron_variant,,ENST00000576629,;	.	550	608	SUCCESS
MGAT5B	146664	.	GRCh37	17	74922720	74922720	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1280364387	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	65	0	ENST00000569840.2:c.1199C>T	p.Ala400Val	p.A400V	ENST00000569840	NM_001199172.1	400	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45788.1	1232	RADIA|MUTECT|MUSE	.	ACCTGCGTACA	NONE	.	.	hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024	.	.	ENSP00000391227	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000428789	Transcript	.	.	ENSG00000167889	24140	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	MGT5B_HUMAN	MGAT5B	HGNC	.	.	UPI0000231C88	SNV	MGAT5B,missense_variant,p.Ala411Val,ENST00000428789,;MGAT5B,missense_variant,p.Ala400Val,ENST00000569840,;MGAT5B,missense_variant,p.Ala400Val,ENST00000301618,;MGAT5B,downstream_gene_variant,,ENST00000563627,;MGAT5B,missense_variant,p.Ala411Val,ENST00000565043,;	1335	65	80	SUCCESS
DNAH17	8632	.	GRCh37	17	76497896	76497896	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	34	0	ENST00000389840.5:c.5217G>A	p.Arg1739=	p.R1739=	ENST00000389840		1739	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	.	5217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCTGTC	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	.	.	ENSP00000374490	.	34/81	.	.	.	.	.	.	.	.	.	34/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;DNAH17-AS1,3_prime_UTR_variant,,ENST00000598378,;RP11-559N14.5,downstream_gene_variant,,ENST00000591373,;DNAH17,downstream_gene_variant,,ENST00000587177,;	5342	34	44	SUCCESS
GAS7	8522	.	GRCh37	17	9873040	9873040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	99	1	ENST00000432992.2:c.425C>A	p.Pro142Gln	p.P142Q	ENST00000432992	NM_201433.1	142	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS11152.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGGAGGG	NONE	.	.	.	.	.	ENSP00000407552	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000432992	Transcript	.	.	ENSG00000007237	4169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.35)	.	GAS7_HUMAN	GAS7	HGNC	J3QS26_HUMAN,J3QLH8_HUMAN,J3KTK6_HUMAN,J3KTB1_HUMAN,J3KS47_HUMAN,B7Z1Q2_HUMAN	.	UPI00001B4B17	SNV	GAS7,missense_variant,p.Pro78Gln,ENST00000584389,;GAS7,missense_variant,p.Pro78Gln,ENST00000396115,;GAS7,missense_variant,p.Pro142Gln,ENST00000432992,;GAS7,missense_variant,p.Pro82Gln,ENST00000323816,;GAS7,missense_variant,p.Pro78Gln,ENST00000579158,;GAS7,missense_variant,p.Pro78Gln,ENST00000580043,;GAS7,missense_variant,p.Pro78Gln,ENST00000437099,;GAS7,missense_variant,p.Pro78Gln,ENST00000540214,;GAS7,missense_variant,p.Pro82Gln,ENST00000585266,;GAS7,missense_variant,p.Pro78Gln,ENST00000542249,;GAS7,missense_variant,p.Pro78Gln,ENST00000578599,;GAS7,missense_variant,p.Pro78Gln,ENST00000584146,;GAS7,intron_variant,,ENST00000578655,;GAS7,intron_variant,,ENST00000579140,;	586	100	108	SUCCESS
RIT2	6014	.	GRCh37	18	40554066	40554066	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	108	357	0	ENST00000326695.5:c.207C>T	p.Tyr69=	p.Y69=	ENST00000326695	NM_002930.3	69	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11921.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGTAAGC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF203,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000321805	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000326695	Transcript	.	.	ENSG00000152214	10017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIT2_HUMAN	RIT2	HGNC	.	.	UPI0000073E97	SNV	RIT2,synonymous_variant,p.%3D,ENST00000590910,;RIT2,synonymous_variant,p.%3D,ENST00000326695,;RIT2,synonymous_variant,p.%3D,ENST00000282028,;RIT2,synonymous_variant,p.%3D,ENST00000589109,;RIT2,upstream_gene_variant,,ENST00000594852,;	379	357	318	SUCCESS
EPG5	57724	.	GRCh37	18	43532421	43532421	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	72	0	ENST00000282041.5:c.1197A>G	p.Ala399=	p.A399=	ENST00000282041	NM_020964.2	399	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS11926.2	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAATGCATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	3/44	.	.	.	.	.	.	.	.	.	3/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,synonymous_variant,p.%3D,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	1232	72	59	SUCCESS
LRP3	4037	.	GRCh37	19	33693781	33693781	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	77	0	ENST00000253193.7:c.149A>G	p.His50Arg	p.H50R	ENST00000253193	NM_002333.3	50	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS12430.1	149	RADIA|MUTECT|MUSE	.	GCAGCACACGG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF211,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000253193	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000253193	Transcript	.	.	ENSG00000130881	6695	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.82)	.	deleterious(0.03)	.	LRP3_HUMAN	LRP3	HGNC	.	.	UPI0000047A9C	SNV	LRP3,missense_variant,p.His50Arg,ENST00000253193,;LRP3,5_prime_UTR_variant,,ENST00000592484,;CTD-2540B15.13,upstream_gene_variant,,ENST00000609744,;LRP3,non_coding_transcript_exon_variant,,ENST00000590275,;LRP3,upstream_gene_variant,,ENST00000590278,;	351	77	84	SUCCESS
GPR42	2866	.	GRCh37	19	35863041	35863041	+	synonymous_variant	Silent	SNP	C	C	T	rs373745268	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	13	0	ENST00000454971.1:c.780C>T	p.Tyr260=	p.Y260=	ENST00000454971		260	taC/taT	0	T:0.0018	T:0.0061	.	T:0	.	T	Y	protein_coding	YES	.	780	RADIA|VARSCANS	.	ATCTACGTGAC	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF31,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	T:0.0129	T:0.0001	ENSP00000410925	T:0	2/2	.	.	.	.	.	.	.	.	rs373745268	2/2	PASS	ENST00000454971	Transcript	.	T:0.0042	ENSG00000126251	4500	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	GPR42_HUMAN	GPR42	HGNC	.	.	UPI0000040740	SNV	GPR42,synonymous_variant,p.%3D,ENST00000597214,;GPR42,synonymous_variant,p.%3D,ENST00000454971,;	981	13	24	SUCCESS
SH3GL1	6455	.	GRCh37	19	4366971	4366971	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	42	0	ENST00000269886.3:c.66A>T	p.Gly22=	p.G22=	ENST00000269886	NM_003025.3	22	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32874.1	66	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCTCCGAC	NONE	.	.	Superfamily_domains:SSF103657,SMART_domains:SM00721,Pfam_domain:PF03114,hmmpanther:PTHR10661:SF125,hmmpanther:PTHR10661,PROSITE_profiles:PS51021	.	.	ENSP00000269886	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000269886	Transcript	.	.	ENSG00000141985	10830	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SH3G1_HUMAN	SH3GL1	HGNC	Q9BWP4_HUMAN,Q9BVL7_HUMAN,Q6FGM0_HUMAN,M0R2K6_HUMAN,M0R0I3_HUMAN,M0QYE0_HUMAN	.	UPI0000135931	SNV	SH3GL1,synonymous_variant,p.%3D,ENST00000598564,;SH3GL1,synonymous_variant,p.%3D,ENST00000269886,;SH3GL1,synonymous_variant,p.%3D,ENST00000417295,;SH3GL1,5_prime_UTR_variant,,ENST00000598219,;SH3GL1,5_prime_UTR_variant,,ENST00000593591,;SH3GL1,5_prime_UTR_variant,,ENST00000598230,;AC007292.6,downstream_gene_variant,,ENST00000594444,;	245	42	46	SUCCESS
BCAM	4059	.	GRCh37	19	45315505	45315505	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	113	0	ENST00000270233.6:c.290G>T	p.Gly97Val	p.G97V	ENST00000270233	NM_005581.4	97	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12644.1	290	RADIA|MUTECT|MUSE	.	CCGGGGCCGCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11973:SF15,hmmpanther:PTHR11973,PROSITE_profiles:PS50835	.	.	ENSP00000270233	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000270233	Transcript	1	.	ENSG00000187244	6722	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.7)	.	deleterious(0.01)	.	BCAM_HUMAN	BCAM	HGNC	A9YWT4_HUMAN	.	UPI0000190806	SNV	BCAM,missense_variant,p.Gly97Val,ENST00000589651,;BCAM,missense_variant,p.Gly76Val,ENST00000591520,;BCAM,missense_variant,p.Gly97Val,ENST00000270233,;BCAM,non_coding_transcript_exon_variant,,ENST00000588603,;BCAM,downstream_gene_variant,,ENST00000588303,;BCAM,upstream_gene_variant,,ENST00000590196,;BCAM,upstream_gene_variant,,ENST00000590108,;	312	113	103	SUCCESS
FCGRT	2217	.	GRCh37	19	50027980	50027980	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1368383274	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	12	0	ENST00000221466.5:c.818A>G	p.Tyr273Cys	p.Y273C	ENST00000221466	NM_001136019.2	273	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12770.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTACTGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF3,hmmpanther:PTHR16675,PROSITE_patterns:PS00290,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000221466	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000221466	Transcript	.	.	ENSG00000104870	3621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCGRN_HUMAN	FCGRT	HGNC	Q8N166_HUMAN,M0R2T3_HUMAN,M0R266_HUMAN,M0QYM4_HUMAN	.	UPI0000119C21	SNV	FCGRT,missense_variant,p.Tyr273Cys,ENST00000221466,;FCGRT,missense_variant,p.Tyr181Cys,ENST00000596975,;FCGRT,missense_variant,p.Tyr273Cys,ENST00000426395,;FCGRT,intron_variant,,ENST00000598076,;FCGRT,intron_variant,,ENST00000599988,;RCN3,upstream_gene_variant,,ENST00000597801,;FCGRT,downstream_gene_variant,,ENST00000593381,;RCN3,upstream_gene_variant,,ENST00000598833,;RCN3,upstream_gene_variant,,ENST00000270645,;RCN3,upstream_gene_variant,,ENST00000593644,;FCGRT,downstream_gene_variant,,ENST00000594823,;FCGRT,downstream_gene_variant,,ENST00000595677,;FCGRT,3_prime_UTR_variant,,ENST00000598949,;FCGRT,3_prime_UTR_variant,,ENST00000598319,;FCGRT,3_prime_UTR_variant,,ENST00000598927,;FCGRT,non_coding_transcript_exon_variant,,ENST00000593431,;FCGRT,non_coding_transcript_exon_variant,,ENST00000596147,;FCGRT,non_coding_transcript_exon_variant,,ENST00000452439,;FCGRT,non_coding_transcript_exon_variant,,ENST00000595881,;FCGRT,downstream_gene_variant,,ENST00000598936,;	1304	12	17	SUCCESS
ANGPTL4	51129	.	GRCh37	19	8429440	8429440	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	96	0	ENST00000301455.2:c.235G>A	p.Ala79Thr	p.A79T	ENST00000301455	NM_139314.1	79	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12200.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCGCCTGT	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF16	.	.	ENSP00000301455	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000301455	Transcript	.	.	ENSG00000167772	16039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.29)	.	ANGL4_HUMAN	ANGPTL4	HGNC	M0R3A2_HUMAN,M0R0N8_HUMAN,M0QZ51_HUMAN,F5H0I2_HUMAN	.	UPI000003747B	SNV	ANGPTL4,missense_variant,p.Ala79Thr,ENST00000393962,;ANGPTL4,missense_variant,p.Ala79Thr,ENST00000601886,;ANGPTL4,missense_variant,p.Ala79Thr,ENST00000599192,;ANGPTL4,missense_variant,p.Ala54Thr,ENST00000594875,;ANGPTL4,missense_variant,p.Ala79Thr,ENST00000601770,;ANGPTL4,missense_variant,p.Ala79Thr,ENST00000301455,;ANGPTL4,splice_region_variant,,ENST00000541807,;ANGPTL4,missense_variant,p.Ala79Thr,ENST00000593998,;ANGPTL4,splice_region_variant,,ENST00000595079,;ANGPTL4,non_coding_transcript_exon_variant,,ENST00000598255,;ANGPTL4,non_coding_transcript_exon_variant,,ENST00000594348,;ANGPTL4,intron_variant,,ENST00000597137,;	406	96	106	SUCCESS
CHIA	27159	.	GRCh37	1	111861237	111861237	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	25	141	0	ENST00000343320.6:c.852C>T	p.Pro284=	p.P284=	ENST00000343320		284	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41368.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCACCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11177:SF37,hmmpanther:PTHR11177,Gene3D:3.10.50.10,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF54556	.	.	ENSP00000358755	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000369740	Transcript	.	.	ENSG00000134216	17432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHIA_HUMAN	CHIA	HGNC	E9PLJ2_HUMAN	.	UPI00000727DC	SNV	CHIA,synonymous_variant,p.%3D,ENST00000369740,;CHIA,synonymous_variant,p.%3D,ENST00000343320,;CHIA,synonymous_variant,p.%3D,ENST00000489524,;CHIA,synonymous_variant,p.%3D,ENST00000430615,;CHIA,synonymous_variant,p.%3D,ENST00000483391,;CHIA,synonymous_variant,p.%3D,ENST00000353665,;CHIA,synonymous_variant,p.%3D,ENST00000451398,;CHIA,synonymous_variant,p.%3D,ENST00000422815,;RP5-1125M8.2,intron_variant,,ENST00000426321,;CHIA,3_prime_UTR_variant,,ENST00000352594,;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,;	955	141	142	SUCCESS
OR6P1	128366	.	GRCh37	1	158532474	158532474	+	synonymous_variant	Silent	SNP	G	G	A	rs1344913123	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	37	77	0	ENST00000334632.1:c.921C>T	p.Gly307=	p.G307=	ENST00000334632	NM_001160325.1	307	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS53391.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGCCCAT	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,synonymous_variant,p.%3D,ENST00000334632,;	921	77	88	SUCCESS
SPTA1	6708	.	GRCh37	1	158583532	158583532	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs536323126	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	24	131	0	ENST00000368147.4:c.6968T>A	p.Leu2323Gln	p.L2323Q	ENST00000368147	NM_003126.2	2323	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS41423.1	6968	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGAAC	NONE	byCluster	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357129	.	50/52	.	.	.	.	.	.	.	.	rs536323126	50/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Leu2323Gln,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000485680,;SPTA1,non_coding_transcript_exon_variant,,ENST00000481212,;SPTA1,non_coding_transcript_exon_variant,,ENST00000498708,;SPTA1,downstream_gene_variant,,ENST00000492934,;	7149	131	173	SUCCESS
SPTA1	6708	.	GRCh37	1	158609400	158609400	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	58	0	ENST00000368147.4:c.4952T>A	p.Leu1651Gln	p.L1651Q	ENST00000368147	NM_003126.2	1651	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS41423.1	4952	MUTECT|MUSE|VARSCANS	.	CCAATAGCTGA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	35/52	.	.	.	.	.	.	.	.	.	35/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Leu1651Gln,ENST00000368147,;SPTA1,non_coding_transcript_exon_variant,,ENST00000465741,;SPTA1,upstream_gene_variant,,ENST00000461624,;	5133	58	78	SUCCESS
SPTA1	6708	.	GRCh37	1	158650442	158650442	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	30	71	0	ENST00000368147.4:c.609C>T	p.Phe203=	p.F203=	ENST00000368147	NM_003126.2	203	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS41423.1	609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGGAAGTC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	5/52	.	.	.	.	.	.	.	.	COSM673995	5/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,synonymous_variant,p.%3D,ENST00000368147,;SPTA1,intron_variant,,ENST00000467387,;	790	71	122	SUCCESS
CRP	1401	.	GRCh37	1	159683929	159683929	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs769624182	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	42	0	ENST00000255030.5:c.62-1G>T		p.X21_splice	ENST00000255030	NM_000567.2	21		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30911.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCTGTGA	NONE	.	.	.	.	.	ENSP00000255030	.	.	.	.	.	.	.	.	.	.	rs769624182	.	PASS	ENST00000255030	Transcript	.	.	ENSG00000132693	2367	.	.	HIGH	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRP_HUMAN	CRP	HGNC	C9JRE9_HUMAN	.	UPI0000128478	SNV	CRP,splice_acceptor_variant,,ENST00000343919,;CRP,splice_acceptor_variant,,ENST00000368110,;CRP,splice_acceptor_variant,,ENST00000255030,;CRP,splice_acceptor_variant,,ENST00000368112,;CRP,splice_acceptor_variant,,ENST00000368111,;CRP,intron_variant,,ENST00000437342,;CRP,upstream_gene_variant,,ENST00000489317,;CRP,upstream_gene_variant,,ENST00000473196,;	.	42	74	SUCCESS
NOS1AP	9722	.	GRCh37	1	162336963	162336963	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	78	0	ENST00000361897.5:c.1227T>C	p.Ala409=	p.A409=	ENST00000361897	NM_014697.2	409	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	.	285	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCTGACTT	NONE	.	.	hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39	.	.	ENSP00000405676	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000431696	Transcript	.	.	ENSG00000254706	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-565P22.6	Clone_based_vega_gene	H7C2G1_HUMAN	.	UPI0001881B2E	SNV	RP11-565P22.6,synonymous_variant,p.%3D,ENST00000431696,;NOS1AP,synonymous_variant,p.%3D,ENST00000493151,;NOS1AP,synonymous_variant,p.%3D,ENST00000530878,;NOS1AP,synonymous_variant,p.%3D,ENST00000464284,;NOS1AP,synonymous_variant,p.%3D,ENST00000361897,;C1orf226,5_prime_UTR_variant,,ENST00000420220,;NOS1AP,non_coding_transcript_exon_variant,,ENST00000454693,;NOS1AP,3_prime_UTR_variant,,ENST00000430120,;NOS1AP,upstream_gene_variant,,ENST00000367932,;	285	78	84	SUCCESS
CROCC	9696	.	GRCh37	1	17273389	17273389	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	33	206	0	ENST00000375541.5:c.2417G>T	p.Gly806Val	p.G806V	ENST00000375541	NM_014675.3	806	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS30616.1	2417	RADIA|MUTECT|MUSE	.	GGAGGGCTCCC	BUFFER|p.L808L|c.2424A>G|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159	.	.	ENSP00000364691	.	17/37	.	.	.	.	.	.	.	.	.	17/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.947)	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Gly666Val,ENST00000445545,;CROCC,missense_variant,p.Gly806Val,ENST00000375541,;CROCC,non_coding_transcript_exon_variant,,ENST00000498688,;CROCC,non_coding_transcript_exon_variant,,ENST00000486318,;CROCC,non_coding_transcript_exon_variant,,ENST00000467938,;CROCC,upstream_gene_variant,,ENST00000477773,;CROCC,downstream_gene_variant,,ENST00000492631,;CROCC,non_coding_transcript_exon_variant,,ENST00000494191,;	2486	206	181	SUCCESS
IER5	51278	.	GRCh37	1	181058762	181058762	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	73	0	ENST00000367577.4:c.724C>T	p.Pro242Ser	p.P242S	ENST00000367577	NM_016545.4	242	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS1343.1	724	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCCCCGC	NONE	.	.	Pfam_domain:PF05760,hmmpanther:PTHR15895,hmmpanther:PTHR15895:SF12	.	.	ENSP00000356549	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367577	Transcript	.	.	ENSG00000162783	5393	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	tolerated(0.06)	.	IER5_HUMAN	IER5	HGNC	.	.	UPI000013E1C9	SNV	IER5,missense_variant,p.Pro242Ser,ENST00000367577,;RP11-309G3.3,upstream_gene_variant,,ENST00000606938,;	1125	73	97	SUCCESS
CACNA1E	777	.	GRCh37	1	181479649	181479649	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	23	109	0	ENST00000367573.2:c.303C>A	p.Ala101=	p.A101=	ENST00000367573	NM_001205293.1	101	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS55664.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCCAACTG	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000356545	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000524607,;CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	303	109	123	SUCCESS
CR2	1380	.	GRCh37	1	207647159	207647159	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs566892752	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	83	0	ENST00000367058.3:c.1992T>A	p.His664Gln	p.H664Q	ENST00000367058	NM_001877.4	664	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS31007.1	2169	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATGTGAG	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	12/20	.	.	.	.	.	.	.	.	rs566892752	12/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.06)	.	tolerated(0.32)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.His637Gln,ENST00000458541,;CR2,missense_variant,p.His723Gln,ENST00000367057,;CR2,missense_variant,p.His664Gln,ENST00000367058,;CR2,missense_variant,p.His664Gln,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000475194,;	2358	83	137	SUCCESS
MACF1	23499	.	GRCh37	1	39800305	39800305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	58	136	0	ENST00000372915.3:c.8060A>T	p.Lys2687Met	p.K2687M	ENST00000372915		2687	aAg/aTg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAAGGTTC	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Lys1122Met,ENST00000289893,;MACF1,missense_variant,p.Lys2682Met,ENST00000564288,;MACF1,missense_variant,p.Lys2687Met,ENST00000372915,;MACF1,missense_variant,p.Lys2719Met,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	.	136	128	SUCCESS
CYP4A11	1579	.	GRCh37	1	47395841	47395841	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	60	170	1	ENST00000310638.4:c.1506C>A	p.Ile502=	p.I502=	ENST00000310638	NM_000778.3	502	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS543.1	1506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGATTCC	NONE	.	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000311095	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000310638	Transcript	.	.	ENSG00000187048	2642	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4AB_HUMAN	CYP4A11	HGNC	.	.	UPI00001281E4	SNV	CYP4A11,synonymous_variant,p.%3D,ENST00000462347,;CYP4A11,synonymous_variant,p.%3D,ENST00000371904,;CYP4A11,synonymous_variant,p.%3D,ENST00000310638,;CYP4A11,downstream_gene_variant,,ENST00000371905,;CYP4A11,downstream_gene_variant,,ENST00000457840,;CYP4A11,downstream_gene_variant,,ENST00000496519,;CYP4A11,3_prime_UTR_variant,,ENST00000475477,;CYP4A11,3_prime_UTR_variant,,ENST00000468629,;CYP4A11,3_prime_UTR_variant,,ENST00000474458,;CYP4A11,downstream_gene_variant,,ENST00000465874,;	1538	171	152	SUCCESS
BEND5	79656	.	GRCh37	1	49242343	49242343	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	96	0	ENST00000371833.3:c.161C>A	p.Pro54His	p.P54H	ENST00000371833	NM_024603.2	54	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS552.2	161	MUTECT|MUSE|VARSCANS	.	GCGGGGGGCTC	NONE	.	.	hmmpanther:PTHR14628	.	.	ENSP00000360899	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000371833	Transcript	.	.	ENSG00000162373	25668	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	deleterious_low_confidence(0.01)	.	BEND5_HUMAN	BEND5	HGNC	.	.	UPI00002042F4	SNV	BEND5,missense_variant,p.Pro54His,ENST00000371833,;AGBL4,intron_variant,,ENST00000371839,;AGBL4,intron_variant,,ENST00000416121,;AGBL4,intron_variant,,ENST00000371838,;BEND5,non_coding_transcript_exon_variant,,ENST00000480399,;BEND5,non_coding_transcript_exon_variant,,ENST00000463562,;BEND5,non_coding_transcript_exon_variant,,ENST00000489956,;	248	96	89	SUCCESS
TMEM59	9528	.	GRCh37	1	54506502	54506502	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	33	195	0	ENST00000234831.5:c.634A>G	p.Met212Val	p.M212V	ENST00000234831	NM_004872.3	212	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS586.1	634	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCATTTGCA	NONE	.	.	Pfam_domain:PF12280	.	.	ENSP00000234831	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000234831	Transcript	.	.	ENSG00000116209	1239	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	tolerated(0.31)	.	TMM59_HUMAN	TMEM59	HGNC	Q5T6Z8_HUMAN	.	UPI0000001BF9	SNV	TMEM59,missense_variant,p.Met81Val,ENST00000371344,;TMEM59,missense_variant,p.Met81Val,ENST00000440019,;TMEM59,missense_variant,p.Met81Val,ENST00000371348,;TMEM59,missense_variant,p.Met212Val,ENST00000234831,;TMEM59,missense_variant,p.Met223Val,ENST00000452421,;TMEM59,missense_variant,p.Met81Val,ENST00000420738,;TMEM59,missense_variant,p.Met81Val,ENST00000371341,;TMEM59,downstream_gene_variant,,ENST00000371337,;TMEM59,upstream_gene_variant,,ENST00000470395,;	884	195	198	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74507591	74507591	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	46	0	ENST00000354431.4:c.1024G>C	p.Asp342His	p.D342H	ENST00000354431	NM_001105659.1	342	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS41350.1	1024	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCACAA	NONE	.	.	hmmpanther:PTHR10588:SF206,hmmpanther:PTHR10588	.	.	ENSP00000346414	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000354431	Transcript	.	.	ENSG00000162620	28318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.833)	.	deleterious(0.01)	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,missense_variant,p.Asp342His,ENST00000395089,;LRRIQ3,missense_variant,p.Asp342His,ENST00000354431,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,3_prime_UTR_variant,,ENST00000415760,;	1216	46	56	SUCCESS
TNNI3K	51086	.	GRCh37	1	74737339	74737339	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	85	0	ENST00000326637.3:c.391G>T	p.Gly131Ter	p.G131*	ENST00000326637	NM_015978.2	131	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS44161.2	733	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTGGATAC	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000450895	.	7/27	.	.	.	.	.	.	.	.	COSM1344247	7/27	PASS	ENST00000557284	Transcript	.	.	ENSG00000259030	42952	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	.	FPGT-TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI0001EECC26	SNV	FPGT-TNNI3K,stop_gained,p.Gly232Ter,ENST00000370895,;TNNI3K,stop_gained,p.Gly232Ter,ENST00000370891,;FPGT-TNNI3K,stop_gained,p.Gly245Ter,ENST00000557284,;TNNI3K,stop_gained,p.Gly131Ter,ENST00000326637,;FPGT-TNNI3K,stop_gained,p.Gly232Ter,ENST00000370899,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;	738	85	101	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77510159	77510159	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779190621	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	37	132	0	ENST00000477717.1:c.532C>T	p.Arg178Trp	p.R178W	ENST00000477717	NM_030965.1	178	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS673.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCGGCGG	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF33	.	.	ENSP00000417583	.	3/5	.	.	.	.	.	.	.	.	rs779190621,COSM3805900	3/5	PASS	ENST00000477717	Transcript	.	.	ENSG00000117069	19342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	.	0,1	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,missense_variant,p.Arg178Trp,ENST00000477717,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000488940,;ST6GALNAC5,missense_variant,p.Arg178Trp,ENST00000318803,;	767	133	144	SUCCESS
KIAA1107	284697	.	GRCh37	1	92648122	92648122	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	355	67	423	0	ENST00000370378.4:c.3568A>T	p.Thr1190Ser	p.T1190S	ENST00000370378	NM_015237.2	1190	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS44172.1	3568	RADIA|MUTECT|MUSE|VARSCANS	.	CAACTACTGAA	NONE	.	.	hmmpanther:PTHR22427	.	.	ENSP00000359404	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000370378	Transcript	.	.	ENSG00000069712	29192	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.093)	.	tolerated(0.26)	.	.	KIAA1107	HGNC	E9PEZ5_HUMAN	.	UPI00017C1449	SNV	KIAA1107,missense_variant,p.Thr1190Ser,ENST00000370378,;KIAA1107,missense_variant,p.Thr1245Ser,ENST00000409154,;	3666	423	422	SUCCESS
MACROD2	140733	.	GRCh37	20	16025252	16025252	+	intron_variant	Intron	SNP	C	C	A	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	31	147	0	ENST00000217246.4:c.1231+3329C>A		p.*411*	ENST00000217246	NM_080676.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13120.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCAACAG	NONE	.	.	.	.	.	ENSP00000217246	.	.	.	.	.	.	.	.	.	.	COSM1641288	.	PASS	ENST00000217246	Transcript	.	.	ENSG00000172264	16126	.	.	MODIFIER	16/16	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MACD2_HUMAN	MACROD2	HGNC	.	.	UPI00005B2E12	SNV	MACROD2,missense_variant,p.Pro188Gln,ENST00000378058,;MACROD2,missense_variant,p.Pro188Gln,ENST00000402914,;MACROD2,missense_variant,p.Pro423Gln,ENST00000310348,;MACROD2,missense_variant,p.Pro74Gln,ENST00000407045,;MACROD2,intron_variant,,ENST00000217246,;MACROD2,downstream_gene_variant,,ENST00000486914,;	.	148	132	SUCCESS
MRPS26	64949	.	GRCh37	20	3027362	3027362	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	89	0	ENST00000380325.3:c.462G>C	p.Glu154Asp	p.E154D	ENST00000380325	NM_030811.3	154	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS13043.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGCGGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21035:SF2,hmmpanther:PTHR21035,Pfam_domain:PF14943	.	.	ENSP00000369682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000380325	Transcript	.	.	ENSG00000125901	14045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	RT26_HUMAN	MRPS26	HGNC	.	.	UPI00001352A1	SNV	MRPS26,missense_variant,p.Glu154Asp,ENST00000380325,;GNRH2,downstream_gene_variant,,ENST00000380346,;GNRH2,downstream_gene_variant,,ENST00000380347,;GNRH2,downstream_gene_variant,,ENST00000359100,;GNRH2,downstream_gene_variant,,ENST00000359987,;GNRH2,downstream_gene_variant,,ENST00000245983,;	586	89	93	SUCCESS
RBM12	10137	.	GRCh37	20	34241608	34241608	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758047950	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	81	0	ENST00000359646.1:c.1637C>A	p.Ala546Asp	p.A546D	ENST00000359646		546	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS13261.1	1637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGCACAG	NONE	byFrequency	.	SMART_domains:SM00360,Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF31	.	.	ENSP00000363228	.	3/3	.	.	.	.	.	.	.	.	rs758047950	3/3	PASS	ENST00000374114	Transcript	.	.	ENSG00000244462	9898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	RBM12_HUMAN	RBM12	HGNC	Q69YJ7_HUMAN,Q5JX62_HUMAN,A6PVI1_HUMAN,A6PVI0_HUMAN	.	UPI0000073D24	SNV	RBM12,missense_variant,p.Ala546Asp,ENST00000359646,;RBM12,missense_variant,p.Ala546Asp,ENST00000374104,;RBM12,missense_variant,p.Ala546Asp,ENST00000374114,;CPNE1,intron_variant,,ENST00000440240,;CPNE1,intron_variant,,ENST00000397442,;CPNE1,intron_variant,,ENST00000412056,;CPNE1,intron_variant,,ENST00000317619,;CPNE1,intron_variant,,ENST00000416778,;CPNE1,intron_variant,,ENST00000430570,;CPNE1,intron_variant,,ENST00000352393,;CPNE1,intron_variant,,ENST00000414711,;CPNE1,intron_variant,,ENST00000435747,;CPNE1,intron_variant,,ENST00000458038,;CPNE1,intron_variant,,ENST00000397443,;CPNE1,intron_variant,,ENST00000420363,;CPNE1,intron_variant,,ENST00000434795,;CPNE1,intron_variant,,ENST00000439806,;CPNE1,intron_variant,,ENST00000397445,;CPNE1,intron_variant,,ENST00000437340,;CPNE1,intron_variant,,ENST00000414664,;CPNE1,intron_variant,,ENST00000397446,;CPNE1,intron_variant,,ENST00000437100,;CPNE1,upstream_gene_variant,,ENST00000317677,;RBM12,downstream_gene_variant,,ENST00000435161,;RBM12,downstream_gene_variant,,ENST00000431148,;RBM12,downstream_gene_variant,,ENST00000424458,;CPNE1,intron_variant,,ENST00000439669,;CPNE1,intron_variant,,ENST00000401607,;RP1-309K20.6,intron_variant,,ENST00000541176,;RP1-309K20.6,intron_variant,,ENST00000454607,;RP1-309K20.6,intron_variant,,ENST00000441563,;CPNE1,intron_variant,,ENST00000483359,;	1901	81	106	SUCCESS
NPBWR2	2832	.	GRCh37	20	62738102	62738102	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	52	0	ENST00000369768.1:c.83A>G	p.Asp28Gly	p.D28G	ENST00000369768	NM_005286.2	28	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS13557.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTCCTGA	NONE	.	.	hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229	.	.	ENSP00000358783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369768	Transcript	.	.	ENSG00000125522	4530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.23)	.	NPBW2_HUMAN	NPBWR2	HGNC	.	.	UPI000013CBB3	SNV	NPBWR2,missense_variant,p.Asp28Gly,ENST00000369768,;	423	52	62	SUCCESS
IGHV1OR21-1	390530	.	GRCh37	21	10862958	10862958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764646982	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	24	146	0	ENST00000559480.1:c.254C>T	p.Ala85Val	p.A85V	ENST00000559480		85	gCc/gTc	0	.	.	.	.	.	T	A/V	IG_V_gene	YES	.	254	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCAGAG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000453358	.	2/2	.	.	.	.	.	.	.	.	rs764646982	2/2	PASS	ENST00000559480	Transcript	.	.	ENSG00000169861	38040	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	deleterious(0.01)	.	IV1U1_HUMAN	IGHV1OR21-1	HGNC	.	.	UPI000041AB26	SNV	IGHV1OR21-1,missense_variant,p.Ala85Val,ENST00000559480,;IGHV1OR21-1,missense_variant,p.Ala85Val,ENST00000302092,;	254	146	186	SUCCESS
UMODL1	89766	.	GRCh37	21	43531615	43531615	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	91	0	ENST00000408910.2:c.1900-1G>A		p.X634_splice	ENST00000408910	NM_001004416.2	634		0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS42935.1	2283	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGCTACA	NONE	.	.	hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	.	.	ENSP00000386126	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,splice_acceptor_variant,,ENST00000408910,;UMODL1,splice_acceptor_variant,,ENST00000400424,;UMODL1,synonymous_variant,p.%3D,ENST00000408989,;UMODL1,synonymous_variant,p.%3D,ENST00000400427,;C21orf128,upstream_gene_variant,,ENST00000329015,;UMODL1,non_coding_transcript_exon_variant,,ENST00000475047,;	2283	91	100	SUCCESS
PCBP3	54039	.	GRCh37	21	47350755	47350755	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	42	0	ENST00000400314.1:c.852A>G	p.Ser284=	p.S284=	ENST00000400314		284	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS42974.2	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCATCAGG	NONE	.	.	hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF98	.	.	ENSP00000383168	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000400314	Transcript	.	.	ENSG00000183570	8651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCBP3_HUMAN	PCBP3	HGNC	.	.	UPI00005989D5	SNV	PCBP3,synonymous_variant,p.%3D,ENST00000400314,;PCBP3,synonymous_variant,p.%3D,ENST00000400305,;PCBP3,synonymous_variant,p.%3D,ENST00000449640,;PCBP3,synonymous_variant,p.%3D,ENST00000400309,;PCBP3,synonymous_variant,p.%3D,ENST00000400304,;PCBP3,synonymous_variant,p.%3D,ENST00000400308,;PCBP3,intron_variant,,ENST00000400310,;PRED62,intron_variant,,ENST00000593412,;PCBP3,non_coding_transcript_exon_variant,,ENST00000468429,;PCBP3,intron_variant,,ENST00000475402,;	1190	42	63	SUCCESS
CCT8L2	150160	.	GRCh37	22	17073473	17073473	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	72	0	ENST00000359963.3:c.-33A>C		p.*11*	ENST00000359963	NM_014406.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13738.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTTGCAGA	NONE	.	.	.	.	.	ENSP00000353048	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359963	Transcript	.	.	ENSG00000198445	15553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPQM_HUMAN	CCT8L2	HGNC	.	.	UPI000006CF87	SNV	CCT8L2,5_prime_UTR_variant,,ENST00000359963,;FABP5P11,downstream_gene_variant,,ENST00000430910,;	228	72	91	SUCCESS
GGTLC2	91227	.	GRCh37	22	22989284	22989284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	70	248	0	ENST00000480559.1:c.237C>A	p.Asp79Glu	p.D79E	ENST00000480559	NM_199127.2	79	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS13802.2	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACTTCAG	NONE	.	.	Prints_domain:PR01210,Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686	.	.	ENSP00000419751	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000480559	Transcript	.	.	ENSG00000100121	18596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	deleterious(0.05)	.	GGTL2_HUMAN	GGTLC2	HGNC	.	.	UPI00004210AD	SNV	GGTLC2,missense_variant,p.Asp79Glu,ENST00000480559,;GGTLC2,missense_variant,p.Asp79Glu,ENST00000448514,;POM121L1P,upstream_gene_variant,,ENST00000402027,;GGTLC2,non_coding_transcript_exon_variant,,ENST00000417145,;POM121L1P,upstream_gene_variant,,ENST00000605258,;	237	248	226	SUCCESS
MYO18B	84700	.	GRCh37	22	26291221	26291221	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	82	0	ENST00000536101.1:c.4642A>G	p.Thr1548Ala	p.T1548A	ENST00000536101		1548	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS54507.1	4642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGACAGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	28/44	.	.	.	.	.	.	.	.	.	28/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.87)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Thr1548Ala,ENST00000335473,;MYO18B,missense_variant,p.Thr1548Ala,ENST00000536101,;MYO18B,missense_variant,p.Thr1549Ala,ENST00000407587,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609275,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000453457,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000594856,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609570,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000608507,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000594585,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000600269,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000593715,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000599792,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609157,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000608921,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000596813,;CTA-125H2.2,intron_variant,,ENST00000599080,;CTA-125H2.2,intron_variant,,ENST00000594542,;CTA-125H2.2,intron_variant,,ENST00000600211,;CTA-125H2.2,intron_variant,,ENST00000609809,;CTA-125H2.2,intron_variant,,ENST00000597614,;CTA-125H2.2,intron_variant,,ENST00000608115,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,intron_variant,,ENST00000595102,;CTA-125H2.2,intron_variant,,ENST00000609820,;CTA-125H2.2,intron_variant,,ENST00000609823,;CTA-125H2.2,intron_variant,,ENST00000597284,;CTA-125H2.2,intron_variant,,ENST00000597548,;CTA-125H2.2,intron_variant,,ENST00000607895,;CTA-125H2.2,downstream_gene_variant,,ENST00000600903,;CTA-125H2.2,downstream_gene_variant,,ENST00000595093,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	4892	82	76	SUCCESS
MYO18B	84700	.	GRCh37	22	26343703	26343703	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	55	0	ENST00000536101.1:c.5657A>T	p.Gln1886Leu	p.Q1886L	ENST00000536101		1886	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS54507.1	5657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCAGTTTG	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	36/44	.	.	.	.	.	.	.	.	.	36/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Gln1886Leu,ENST00000335473,;MYO18B,missense_variant,p.Gln1887Leu,ENST00000407587,;MYO18B,missense_variant,p.Gln1886Leu,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	5907	55	41	SUCCESS
EIF4ENIF1	56478	.	GRCh37	22	31850167	31850167	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	93	0	ENST00000330125.5:c.1475A>G	p.Lys492Arg	p.K492R	ENST00000330125	NM_019843.3	492	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13898.1	1475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTTCATT	NONE	.	.	Pfam_domain:PF10477,hmmpanther:PTHR12269	.	.	ENSP00000380659	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000397525	Transcript	.	.	ENSG00000184708	16687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	4ET_HUMAN	EIF4ENIF1	HGNC	B1AKL6_HUMAN,B1AKL5_HUMAN	.	UPI0000124F14	SNV	EIF4ENIF1,missense_variant,p.Lys171Arg,ENST00000382180,;EIF4ENIF1,missense_variant,p.Lys329Arg,ENST00000344710,;EIF4ENIF1,missense_variant,p.Lys492Arg,ENST00000397525,;EIF4ENIF1,missense_variant,p.Lys492Arg,ENST00000397523,;EIF4ENIF1,missense_variant,p.Lys90Arg,ENST00000418321,;EIF4ENIF1,missense_variant,p.Lys492Arg,ENST00000330125,;RP11-247I13.11,upstream_gene_variant,,ENST00000464523,;DRG1,intron_variant,,ENST00000548143,;EIF4ENIF1,upstream_gene_variant,,ENST00000495101,;EIF4ENIF1,upstream_gene_variant,,ENST00000445424,;EIF4ENIF1,upstream_gene_variant,,ENST00000487671,;	1699	93	102	SUCCESS
IL2RB	3560	.	GRCh37	22	37524527	37524527	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	70	0	ENST00000216223.5:c.1265C>T	p.Pro422Leu	p.P422L	ENST00000216223	NM_000878.3	422	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13942.1	1265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGGGAAG	NONE	.	.	hmmpanther:PTHR23037:SF23,hmmpanther:PTHR23037	.	.	ENSP00000216223	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000216223	Transcript	.	.	ENSG00000100385	6009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IL2RB_HUMAN	IL2RB	HGNC	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN	.	UPI000000128F	SNV	IL2RB,missense_variant,p.Pro422Leu,ENST00000216223,;IL2RB,downstream_gene_variant,,ENST00000483573,;	1464	70	76	SUCCESS
PPARA	5465	.	GRCh37	22	46594481	46594481	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	89	0	ENST00000262735.5:c.201C>T	p.Val67=	p.V67=	ENST00000262735	NM_005036.4	67	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33669.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTCATCAC	NONE	.	.	Prints_domain:PR01289,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF197	.	.	ENSP00000379322	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000396000	Transcript	.	.	ENSG00000186951	9232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPARA_HUMAN	PPARA	HGNC	F1D8S4_HUMAN,B0QYX2_HUMAN	.	UPI000000D8E0	SNV	PPARA,synonymous_variant,p.%3D,ENST00000262735,;PPARA,synonymous_variant,p.%3D,ENST00000420804,;PPARA,synonymous_variant,p.%3D,ENST00000396000,;PPARA,synonymous_variant,p.%3D,ENST00000434345,;PPARA,synonymous_variant,p.%3D,ENST00000402126,;PPARA,synonymous_variant,p.%3D,ENST00000415785,;PPARA,synonymous_variant,p.%3D,ENST00000407236,;PPARA,downstream_gene_variant,,ENST00000440343,;PPARA,downstream_gene_variant,,ENST00000481567,;PPARA,downstream_gene_variant,,ENST00000484619,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,;	466	89	86	SUCCESS
SELO	0	.	GRCh37	22	50644791	50644792	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	105	32	90	0	ENST00000380903.2:c.601_602del	p.Leu201MetfsTer32	p.L201Mfs*32	ENST00000380903	NM_031454.1	200	ttTCta/ttta	0	.	.	.	.	.	-	FL/FX	protein_coding	YES	CCDS43034.1	600-601	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGTTTCTATGC	NONE	.	.	HAMAP:MF_00692,hmmpanther:PTHR12153,Pfam_domain:PF02696	.	.	ENSP00000370288	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000380903	Transcript	.	.	ENSG00000073169	.	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	deletion	SELO,frameshift_variant,p.Leu201MetfsTer32,ENST00000380903,;RP3-402G11.27,upstream_gene_variant,,ENST00000610050,;RP3-402G11.28,downstream_gene_variant,,ENST00000608016,;SELO,upstream_gene_variant,,ENST00000492092,;	658-659	90	137	SUCCESS
LRP1B	53353	.	GRCh37	2	141083347	141083347	+	synonymous_variant	Silent	SNP	A	A	C	rs1217223341	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	40	91	0	ENST00000389484.3:c.12324T>G	p.Ser4108=	p.S4108=	ENST00000389484	NM_018557.2	4108	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2182.1	12324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACAGAGAC	NONE	.	.	PROSITE_profiles:PS51120,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	80/91	.	.	.	.	.	.	.	.	.	80/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,synonymous_variant,p.%3D,ENST00000389484,;LRP1B,synonymous_variant,p.%3D,ENST00000437977,;	13296	91	111	SUCCESS
ZEB2	9839	.	GRCh37	2	145182398	145182398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	91	0	ENST00000409487.3:c.368A>T	p.Glu123Val	p.E123V	ENST00000409487		123	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2186.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTTCTGGC	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Glu123Val,ENST00000392861,;ZEB2,missense_variant,p.Glu123Val,ENST00000431672,;ZEB2,missense_variant,p.Glu123Val,ENST00000303660,;ZEB2,missense_variant,p.Glu110Val,ENST00000440875,;ZEB2,missense_variant,p.Glu123Val,ENST00000427902,;ZEB2,missense_variant,p.Glu123Val,ENST00000409487,;ZEB2,missense_variant,p.Glu123Val,ENST00000558170,;ZEB2,missense_variant,p.Glu123Val,ENST00000409211,;ZEB2,intron_variant,,ENST00000539609,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000435831,;ZEB2,downstream_gene_variant,,ENST00000434448,;ZEB2,downstream_gene_variant,,ENST00000453352,;ZEB2,downstream_gene_variant,,ENST00000479735,;ZEB2,downstream_gene_variant,,ENST00000461784,;ZEB2,downstream_gene_variant,,ENST00000560384,;ZEB2,downstream_gene_variant,,ENST00000472146,;ZEB2,downstream_gene_variant,,ENST00000465308,;ZEB2,downstream_gene_variant,,ENST00000476394,;	1553	91	107	SUCCESS
ZEB2	9839	.	GRCh37	2	145182399	145182399	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	89	0	ENST00000409487.3:c.367G>T	p.Glu123Ter	p.E123*	ENST00000409487		123	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2186.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCTGGCC	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,stop_gained,p.Glu123Ter,ENST00000392861,;ZEB2,stop_gained,p.Glu123Ter,ENST00000431672,;ZEB2,stop_gained,p.Glu123Ter,ENST00000303660,;ZEB2,stop_gained,p.Glu110Ter,ENST00000440875,;ZEB2,stop_gained,p.Glu123Ter,ENST00000427902,;ZEB2,stop_gained,p.Glu123Ter,ENST00000409487,;ZEB2,stop_gained,p.Glu123Ter,ENST00000558170,;ZEB2,stop_gained,p.Glu123Ter,ENST00000409211,;ZEB2,intron_variant,,ENST00000539609,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000435831,;ZEB2,downstream_gene_variant,,ENST00000434448,;ZEB2,downstream_gene_variant,,ENST00000453352,;ZEB2,downstream_gene_variant,,ENST00000479735,;ZEB2,downstream_gene_variant,,ENST00000461784,;ZEB2,downstream_gene_variant,,ENST00000560384,;ZEB2,downstream_gene_variant,,ENST00000472146,;ZEB2,downstream_gene_variant,,ENST00000465308,;ZEB2,downstream_gene_variant,,ENST00000476394,;	1552	89	105	SUCCESS
MBD5	55777	.	GRCh37	2	149241103	149241103	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	21	88	0	ENST00000407073.1:c.2845+98G>T		p.*949*	ENST00000407073	NM_018328.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTGCAGCC	NONE	.	.	.	.	.	ENSP00000386049	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	MODIFIER	10/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,missense_variant,p.Leu981Phe,ENST00000404807,;MBD5,missense_variant,p.Leu721Phe,ENST00000416015,;MBD5,intron_variant,,ENST00000407073,;MBD5,upstream_gene_variant,,ENST00000496893,;	.	88	115	SUCCESS
SCN1A	6323	.	GRCh37	2	166904196	166904196	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	31	141	0	ENST00000303395.4:c.1111G>T	p.Ala371Ser	p.A371S	ENST00000303395		371	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS54413.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGCCCAAC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000303540	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Ala371Ser,ENST00000409050,;SCN1A,missense_variant,p.Ala371Ser,ENST00000423058,;SCN1A,missense_variant,p.Ala371Ser,ENST00000303395,;SCN1A,missense_variant,p.Ala371Ser,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;	1111	141	121	SUCCESS
CRYGA	1418	.	GRCh37	2	209028038	209028038	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750368223	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	68	117	0	ENST00000304502.4:c.142C>A	p.Arg48Ser	p.R48S	ENST00000304502	NM_014617.3	48	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS33367.1	142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACGCTCAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF28,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367	.	.	ENSP00000302105	.	2/3	.	.	.	.	.	.	.	.	rs750368223	2/3	PASS	ENST00000304502	Transcript	.	.	ENSG00000168582	2408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0.02)	.	CRGA_HUMAN	CRYGA	HGNC	.	.	UPI000049DF32	SNV	CRYGA,missense_variant,p.Arg48Ser,ENST00000304502,;C2orf80,downstream_gene_variant,,ENST00000451346,;C2orf80,downstream_gene_variant,,ENST00000428015,;C2orf80,downstream_gene_variant,,ENST00000341287,;C2orf80,downstream_gene_variant,,ENST00000451342,;C2orf80,downstream_gene_variant,,ENST00000453017,;	162	117	197	SUCCESS
CPS1	1373	.	GRCh37	2	211459263	211459263	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	75	0	ENST00000233072.5:c.1196A>G	p.Lys399Arg	p.K399R	ENST00000233072	NM_001875.4	399	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46505.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAAGAAAG	NONE	.	.	HAMAP:MF_01209,PROSITE_profiles:PS51273,hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01368,Gene3D:3.40.50.20,Superfamily_domains:SSF52317	.	.	ENSP00000402608	.	13/39	.	.	.	.	.	.	.	.	.	13/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.37)	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Lys405Arg,ENST00000430249,;CPS1,missense_variant,p.Lys399Arg,ENST00000233072,;CPS1,5_prime_UTR_variant,,ENST00000451903,;	1269	75	89	SUCCESS
MARCH4	0	.	GRCh37	2	217124066	217124066	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757427869	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	24	99	0	ENST00000273067.4:c.1202G>T	p.Arg401Leu	p.R401L	ENST00000273067	NM_020814.2	401	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS33376.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCGGCTG	NONE	.	.	hmmpanther:PTHR23012:SF51,hmmpanther:PTHR23012	.	.	ENSP00000273067	.	4/4	.	.	.	.	.	.	.	.	rs757427869,COSM573609	4/4	PASS	ENST00000273067	Transcript	.	.	ENSG00000144583	29269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.931)	.	deleterious(0.02)	0,1	MARH4_HUMAN	MARCH4	HGNC	.	.	UPI00001C1DB9	SNV	MARCH4,missense_variant,p.Arg401Leu,ENST00000273067,;AC012513.6,upstream_gene_variant,,ENST00000417481,;	2969	99	85	SUCCESS
SPEG	10290	.	GRCh37	2	220353551	220353551	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200879669	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	45	184	0	ENST00000312358.7:c.8078C>T	p.Thr2693Met	p.T2693M	ENST00000312358	NM_005876.4	2693	aCg/aTg	0	.	T:0	.	T:0.0014	.	T	T/M	protein_coding	YES	CCDS42824.1	8078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACACGGCGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	.	ENSP00000311684	T:0	34/41	.	.	.	.	.	.	.	.	rs200879669	34/41	PASS	ENST00000312358	Transcript	.	T:0.0002	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	T:0	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Thr2693Met,ENST00000312358,;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	8210	184	159	SUCCESS
EPHA4	2043	.	GRCh37	2	222301824	222301824	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	84	0	ENST00000281821.2:c.2093T>C	p.Ile698Thr	p.I698T	ENST00000281821	NM_004438.3	698	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2447.1	2093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTATGATC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,SMART_domains:SM00220,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000281821	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Ile698Thr,ENST00000281821,;EPHA4,missense_variant,p.Ile698Thr,ENST00000409854,;EPHA4,missense_variant,p.Ile647Thr,ENST00000392071,;EPHA4,missense_variant,p.Ile698Thr,ENST00000409938,;EPHA4,non_coding_transcript_exon_variant,,ENST00000495693,;EPHA4,upstream_gene_variant,,ENST00000424339,;	2135	84	71	SUCCESS
DOCK10	55619	.	GRCh37	2	225659771	225659771	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1305763186	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	31	95	0	ENST00000258390.7:c.4979G>A	p.Arg1660His	p.R1660H	ENST00000258390	NM_014689.2	1660	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS46528.1	4979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATACGCTTA	NONE	.	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	45/56	.	.	.	.	.	.	.	.	COSM210205,COSM210204	45/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.849)	.	deleterious(0)	1,1	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Arg1660His,ENST00000258390,;DOCK10,missense_variant,p.Arg1654His,ENST00000409592,;DOCK10,non_coding_transcript_exon_variant,,ENST00000492251,;	5047	95	130	SUCCESS
DGKD	8527	.	GRCh37	2	234296855	234296855	+	intron_variant	Intron	SNP	A	A	G	rs754573924	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	50	152	0	ENST00000264057.2:c.157-48A>G		p.*53*	ENST00000264057	NM_152879.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2504.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAAGGGCA	NONE	.	.	.	.	.	ENSP00000264057	.	.	.	.	.	.	.	.	.	.	rs754573924	.	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	MODIFIER	1/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,5_prime_UTR_variant,,ENST00000409813,;DGKD,intron_variant,,ENST00000447484,;DGKD,intron_variant,,ENST00000264057,;DGKD,intron_variant,,ENST00000427930,;AC019221.4,intron_variant,,ENST00000442524,;DGKD,intron_variant,,ENST00000489613,;	.	152	168	SUCCESS
C2orf54	0	.	GRCh37	2	241834941	241834941	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	77	0	ENST00000388934.4:c.474A>G	p.Ala158=	p.A158=	ENST00000388934	NM_001085437.1	158	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS42839.1	474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTGCTAC	NONE	.	.	hmmpanther:PTHR10656:SF7,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000373586	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000388934	Transcript	.	.	ENSG00000172478	26216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB054_HUMAN	C2orf54	HGNC	C9JP86_HUMAN,C9JEK0_HUMAN	.	UPI000049DF42	SNV	C2orf54,synonymous_variant,p.%3D,ENST00000388934,;C2orf54,upstream_gene_variant,,ENST00000402775,;C2orf54,downstream_gene_variant,,ENST00000454476,;C2orf54,downstream_gene_variant,,ENST00000414499,;C2orf54,upstream_gene_variant,,ENST00000307486,;	633	77	73	SUCCESS
KIF3C	3797	.	GRCh37	2	26203290	26203290	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs747709986	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	64	0	ENST00000264712.3:c.1497C>G	p.Asp499Glu	p.D499E	ENST00000264712	NM_002254.6	499	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS1719.1	1497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGTCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF349,hmmpanther:PTHR24115	.	.	ENSP00000264712	.	1/8	.	.	.	.	.	.	.	.	rs747709986	1/8	PASS	ENST00000264712	Transcript	.	.	ENSG00000084731	6321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	.	.	KIF3C_HUMAN	KIF3C	HGNC	.	.	UPI000013D55A	SNV	KIF3C,missense_variant,p.Asp499Glu,ENST00000264712,;KIF3C,missense_variant,p.Asp499Glu,ENST00000405914,;KIF3C,missense_variant,p.Asp499Glu,ENST00000455394,;KIF3C,missense_variant,p.Asp499Glu,ENST00000417737,;KIF3C,non_coding_transcript_exon_variant,,ENST00000475453,;	2077	64	74	SUCCESS
FAM98A	25940	.	GRCh37	2	33810623	33810623	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	57	205	0	ENST00000238823.8:c.862G>T	p.Glu288Ter	p.E288*	ENST00000238823		288	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS33179.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCTCTTA	NONE	.	.	hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF6,Pfam_domain:PF10239	.	.	ENSP00000238823	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000238823	Transcript	.	.	ENSG00000119812	24520	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA98A_HUMAN	FAM98A	HGNC	C9J3G8_HUMAN,B4DT23_HUMAN	.	UPI000013F15A	SNV	FAM98A,stop_gained,p.Glu288Ter,ENST00000403368,;FAM98A,stop_gained,p.Glu93Ter,ENST00000441530,;FAM98A,stop_gained,p.Glu288Ter,ENST00000238823,;FAM98A,downstream_gene_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000475122,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,downstream_gene_variant,,ENST00000492649,;	1003	205	214	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656977	40656977	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	59	0	ENST00000332839.4:c.444G>T	p.Glu148Asp	p.E148D	ENST00000332839	NM_021097.2	148	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS1806.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATCTCAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00845	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	COSM1327082	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Glu148Asp,ENST00000408028,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000406785,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000542024,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000403092,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000405269,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000332839,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000542756,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000406391,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000405901,;SLC8A1,missense_variant,p.Glu148Asp,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,missense_variant,p.Glu145Asp,ENST00000407929,;	478	59	87	SUCCESS
KIAA1841	84542	.	GRCh37	2	61298747	61298747	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs778908462	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	41	85	0	ENST00000402291.1:c.157A>T	p.Lys53Ter	p.K53*	ENST00000402291	NM_001129993.1	53	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS46296.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAAAAAGG	NONE	.	.	hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946	.	.	ENSP00000385579	.	4/22	.	.	.	.	.	.	.	.	rs778908462	4/22	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,stop_gained,p.Lys53Ter,ENST00000453873,;KIAA1841,stop_gained,p.Lys53Ter,ENST00000402291,;KIAA1841,stop_gained,p.Lys53Ter,ENST00000356719,;KIAA1841,stop_gained,p.Lys53Ter,ENST00000295031,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000482513,;KIAA1841,upstream_gene_variant,,ENST00000483700,;KIAA1841,stop_gained,p.Lys53Ter,ENST00000453186,;	398	85	131	SUCCESS
SNRPG	6637	.	GRCh37	2	70520565	70520565	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	20	0	ENST00000272348.2:c.32+185T>G		p.*11*	ENST00000272348	NM_003096.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1903.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGACGCGC	NONE	.	.	.	.	.	ENSP00000272348	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000272348	Transcript	.	.	ENSG00000143977	11163	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUXG_HUMAN	SNRPG	HGNC	Q49AN9_HUMAN	.	UPI0000022287	SNV	SNRPG,5_prime_UTR_variant,,ENST00000482975,;SNRPG,5_prime_UTR_variant,,ENST00000438261,;SNRPG,intron_variant,,ENST00000272348,;SNRPG,intron_variant,,ENST00000454893,;FAM136A,downstream_gene_variant,,ENST00000430566,;FAM136A,downstream_gene_variant,,ENST00000037869,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000413456,;FAM136A,downstream_gene_variant,,ENST00000438759,;FAM136A,downstream_gene_variant,,ENST00000450256,;SNRPG,intron_variant,,ENST00000429728,;SNRPG,intron_variant,,ENST00000488400,;SNRPG,intron_variant,,ENST00000480370,;FAM136A,downstream_gene_variant,,ENST00000460307,;	.	20	22	SUCCESS
TTC31	64427	.	GRCh37	2	74718274	74718274	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368112249	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	46	103	0	ENST00000233623.5:c.566G>T	p.Arg189Leu	p.R189L	ENST00000233623	NM_022492.4	189	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS42701.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGACAGG	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF314	.	.	ENSP00000233623	.	6/13	.	.	.	.	.	.	.	.	rs368112249	6/13	PASS	ENST00000233623	Transcript	.	.	ENSG00000115282	25759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.1)	.	TTC31_HUMAN	TTC31	HGNC	G5E9H3_HUMAN	.	UPI0000D611C0	SNV	TTC31,missense_variant,p.Arg45Leu,ENST00000442235,;TTC31,missense_variant,p.Arg189Leu,ENST00000410003,;TTC31,missense_variant,p.Arg189Leu,ENST00000233623,;TTC31,upstream_gene_variant,,ENST00000414247,;TTC31,non_coding_transcript_exon_variant,,ENST00000463189,;TTC31,3_prime_UTR_variant,,ENST00000424122,;TTC31,3_prime_UTR_variant,,ENST00000449459,;TTC31,non_coding_transcript_exon_variant,,ENST00000491252,;TTC31,non_coding_transcript_exon_variant,,ENST00000459957,;TTC31,non_coding_transcript_exon_variant,,ENST00000489152,;TTC31,non_coding_transcript_exon_variant,,ENST00000464241,;TTC31,upstream_gene_variant,,ENST00000487623,;	573	103	140	SUCCESS
FABP1	2168	.	GRCh37	2	88422904	88422904	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	15	0	ENST00000295834.3:c.334-281G>T		p.*112*	ENST00000295834	NM_001443.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2001.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCATCCA	NONE	.	.	.	.	.	ENSP00000295834	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295834	Transcript	.	.	ENSG00000163586	3555	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FABPL_HUMAN	FABP1	HGNC	Q6FGL7_HUMAN	.	UPI00000527AB	SNV	FABP1,3_prime_UTR_variant,,ENST00000393750,;FABP1,intron_variant,,ENST00000295834,;FABP1,non_coding_transcript_exon_variant,,ENST00000495375,;FABP1,downstream_gene_variant,,ENST00000472846,;	.	15	16	SUCCESS
IGSF10	285313	.	GRCh37	3	151162741	151162741	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	77	0	ENST00000282466.3:c.5028C>T	p.Pro1676=	p.P1676=	ENST00000282466	NM_178822.4	1676	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3160.1	5028	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGGATT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000282466	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,synonymous_variant,p.%3D,ENST00000282466,;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	5028	77	89	SUCCESS
GMPS	8833	.	GRCh37	3	155655379	155655379	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	102	151	0	ENST00000496455.2:c.1981-1G>A		p.X661_splice	ENST00000496455	NM_003875.2	661		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46941.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATAGGTGGT	NONE	.	.	.	.	.	ENSP00000419851	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000496455	Transcript	.	.	ENSG00000163655	4378	.	.	HIGH	15/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUAA_HUMAN	GMPS	HGNC	A8K639_HUMAN	.	UPI0000000CC6	SNV	GMPS,splice_acceptor_variant,,ENST00000496455,;GMPS,splice_acceptor_variant,,ENST00000295920,;	.	151	203	SUCCESS
SLITRK3	22865	.	GRCh37	3	164907422	164907422	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	12	98	0	ENST00000241274.3:c.1197C>T	p.Asn399=	p.N399=	ENST00000241274	NM_014926.2	399	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS3197.1	1197	MUTECT|MUSE|VARSCANS	.	GAAATGTTATT	NONE	.	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,synonymous_variant,p.%3D,ENST00000475390,;SLITRK3,synonymous_variant,p.%3D,ENST00000241274,;SLITRK3,downstream_gene_variant,,ENST00000497724,;	1641	98	129	SUCCESS
NAALADL2	254827	.	GRCh37	3	175184840	175184840	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	254	36	188	0	ENST00000454872.1:c.1401T>A	p.Thr467=	p.T467=	ENST00000454872	NM_207015.2	467	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46960.1	1401	RADIA|MUTECT|MUSE|VARSCANS	.	AGTACTGCAAT	NONE	.	.	hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000404705	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000454872	Transcript	.	.	ENSG00000177694	23219	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NADL2_HUMAN	NAALADL2	HGNC	C9JQ86_HUMAN	.	UPI0000161608	SNV	NAALADL2,synonymous_variant,p.%3D,ENST00000454872,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,;NAALADL2,3_prime_UTR_variant,,ENST00000414826,;	1529	188	290	SUCCESS
NEK10	152110	.	GRCh37	3	27152813	27152813	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	89	109	0	ENST00000429845.2:c.3471-2A>T		p.X1157_splice	ENST00000429845		1157		0	.	.	.	.	.	A	.	protein_coding	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTATAAG	NONE	.	.	.	.	.	ENSP00000395849	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429845	Transcript	.	.	ENSG00000163491	18592	.	.	HIGH	38/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI0000EE2A86	SNV	NEK10,splice_acceptor_variant,,ENST00000429845,;NEK10,splice_acceptor_variant,,ENST00000383771,;NEK10,splice_acceptor_variant,,ENST00000295720,;NEK10,splice_acceptor_variant,,ENST00000383770,;	.	109	157	SUCCESS
CHL1	10752	.	GRCh37	3	407776	407776	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	16	120	0	ENST00000397491.2:c.1681A>G	p.Ile561Val	p.I561V	ENST00000397491		561	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2556.1	1729	MUTECT|MUSE|VARSCANS	.	TTGAAATTAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256509	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.39)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Ile561Val,ENST00000397491,;CHL1,missense_variant,p.Ile577Val,ENST00000256509,;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1-AS1,intron_variant,,ENST00000608098,;CHL1,downstream_gene_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	2371	120	183	SUCCESS
SETD2	29072	.	GRCh37	3	47088108	47088108	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	83	0	ENST00000409792.3:c.6967T>G	p.Tyr2323Asp	p.Y2323D	ENST00000409792	NM_014159.6	2323	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS2749.2	6967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATAACTCT	NONE	.	.	.	.	.	ENSP00000386759	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Tyr2323Asp,ENST00000409792,;SETD2,3_prime_UTR_variant,,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,non_coding_transcript_exon_variant,,ENST00000479832,;	7010	83	86	SUCCESS
CELSR3	1951	.	GRCh37	3	48699314	48699314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	59	0	ENST00000164024.4:c.754G>T	p.Ala252Ser	p.A252S	ENST00000164024	NM_001407.2	252	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2775.1	754	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGCCGTGC	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	.	ENSP00000164024	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.06)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Ala252Ser,ENST00000544264,;CELSR3,missense_variant,p.Ala252Ser,ENST00000164024,;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	1035	59	70	SUCCESS
NISCH	11188	.	GRCh37	3	52525454	52525454	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	59	0	ENST00000345716.4:c.3829T>G	p.Ser1277Ala	p.S1277A	ENST00000345716	NM_007184.3	1277	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS33767.1	3829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTCCTCT	NONE	.	.	hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454	.	.	ENSP00000339958	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000345716	Transcript	.	.	ENSG00000010322	18006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	NISCH_HUMAN	NISCH	HGNC	.	.	UPI000036715D	SNV	NISCH,missense_variant,p.Ser1277Ala,ENST00000345716,;NISCH,missense_variant,p.Ser1277Ala,ENST00000479054,;STAB1,upstream_gene_variant,,ENST00000321725,;NISCH,downstream_gene_variant,,ENST00000488243,;NISCH,non_coding_transcript_exon_variant,,ENST00000467594,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;STAB1,upstream_gene_variant,,ENST00000479355,;NISCH,downstream_gene_variant,,ENST00000460759,;STAB1,upstream_gene_variant,,ENST00000481607,;	3963	59	73	SUCCESS
CXXC4	80319	.	GRCh37	4	105393500	105393500	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	383	100	619	1	ENST00000426831.1:c.576A>T	p.Glu192Asp	p.E192D	ENST00000426831		192	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS3665.2	1083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTTCAGC	NONE	.	.	hmmpanther:PTHR13419:SF1,hmmpanther:PTHR13419	.	.	ENSP00000378248	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394767	Transcript	.	.	ENSG00000168772	24593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated_low_confidence(0.25)	.	.	CXXC4	HGNC	J9JIF5_HUMAN	.	UPI0000E5AC2D	SNV	CXXC4,missense_variant,p.Glu192Asp,ENST00000426831,;CXXC4,missense_variant,p.Glu361Asp,ENST00000394767,;CXXC4,non_coding_transcript_exon_variant,,ENST00000515509,;CXXC4,non_coding_transcript_exon_variant,,ENST00000466963,;	1534	620	484	SUCCESS
ANK2	287	.	GRCh37	4	114244937	114244937	+	intron_variant	Intron	SNP	C	C	T	rs1159398317	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	18	92	0	ENST00000357077.4:c.2900+5161C>T		p.*967*	ENST00000357077	NM_001148.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3702.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAACGTGAC	NONE	.	.	.	.	.	ENSP00000349588	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODIFIER	26/45	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Arg954Cys,ENST00000506722,;ANK2,intron_variant,,ENST00000503271,;ANK2,intron_variant,,ENST00000264366,;ANK2,intron_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000357077,;ANK2,intron_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000515644,;	.	92	85	SUCCESS
DCHS2	54798	.	GRCh37	4	155252859	155252859	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	38	181	0	ENST00000357232.4:c.2241A>T	p.Ala747=	p.A747=	ENST00000357232	NM_017639.3	747	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3785.1	2241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGCTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,SMART_domains:SM00112	.	.	ENSP00000349768	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000357232,;DCHS2,intron_variant,,ENST00000339452,;DCHS2,downstream_gene_variant,,ENST00000507542,;DCHS2,downstream_gene_variant,,ENST00000504580,;	2241	181	158	SUCCESS
MSMO1	6307	.	GRCh37	4	166261548	166261548	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	48	0	ENST00000261507.6:c.686+21A>T		p.*229*	ENST00000261507	NM_006745.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3809.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCAGGTAT	NONE	.	.	.	.	.	ENSP00000261507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261507	Transcript	.	.	ENSG00000052802	10545	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSMO1_HUMAN	MSMO1	HGNC	D6REA2_HUMAN,D6RDP9_HUMAN	.	UPI000012A0D3	SNV	MSMO1,3_prime_UTR_variant,,ENST00000504317,;MSMO1,intron_variant,,ENST00000393766,;MSMO1,intron_variant,,ENST00000261507,;MSMO1,downstream_gene_variant,,ENST00000507013,;	.	48	45	SUCCESS
FAM86EP	348926	.	GRCh37	4	3949905	3949913	+	non_coding_transcript_exon_variant	RNA	DEL	TGATGGCTG	TGATGGCTG	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	TGATGGCTG	TGATGGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	58	0	ENST00000313946.8:n.190_198del		p.*64*	ENST00000313946				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAGATGATGGCTGTGCTC	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000313946	Transcript	.	.	ENSG00000251669	28017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FAM86EP	HGNC	.	.	.	deletion	FAM86EP,non_coding_transcript_exon_variant,,ENST00000502255,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000504375,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000512092,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000313946,;AC226119.5,non_coding_transcript_exon_variant,,ENST00000281228,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000510565,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000506770,;FAM86EP,intron_variant,,ENST00000511488,;AC226119.5,intron_variant,,ENST00000514073,;FAM86EP,intron_variant,,ENST00000507301,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000510506,;	190-198	58	40	SUCCESS
KIAA0232	9778	.	GRCh37	4	6863293	6863293	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	100	0	ENST00000307659.5:c.1184A>T	p.Glu395Val	p.E395V	ENST00000307659	NM_014743.2	395	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS43209.1	1184	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAGTATA	NONE	.	.	hmmpanther:PTHR17611,Pfam_domain:PF15376	.	.	ENSP00000303928	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000307659	Transcript	.	.	ENSG00000170871	28992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	K0232_HUMAN	KIAA0232	HGNC	D6REK0_HUMAN	.	UPI000013EC3F	SNV	KIAA0232,missense_variant,p.Glu395Val,ENST00000307659,;KIAA0232,missense_variant,p.Glu395Val,ENST00000425103,;KIAA0232,downstream_gene_variant,,ENST00000503069,;	1639	100	73	SUCCESS
SMR3A	26952	.	GRCh37	4	71232527	71232527	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	25	160	0	ENST00000226460.4:c.221G>A	p.Gly74Glu	p.G74E	ENST00000226460	NM_012390.3	74	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34000.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGGAGAA	BUFFER|p.R75K|c.224G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14179:SF9,hmmpanther:PTHR14179,Pfam_domain:PF15621,Prints_domain:PR01217	.	.	ENSP00000226460	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000226460	Transcript	.	.	ENSG00000109208	19216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SMR3A_HUMAN	SMR3A	HGNC	.	.	UPI000013C8A0	SNV	SMR3A,missense_variant,p.Gly74Glu,ENST00000226460,;SMR3B,upstream_gene_variant,,ENST00000504825,;	317	160	123	SUCCESS
GC	2638	.	GRCh37	4	72634108	72634108	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	13	266	0	ENST00000273951.8:c.171T>C	p.Phe57=	p.F57=	ENST00000273951	NM_001204306.1	57	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS56332.1	228	MUTECT|MUSE	.	TGTTCAAACGT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF11,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,Superfamily_domains:SSF48552	.	.	ENSP00000421725	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000504199	Transcript	1	.	ENSG00000145321	4187	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VTDB_HUMAN	GC	HGNC	D6RF20_HUMAN	.	UPI0001D3B4EE	SNV	GC,synonymous_variant,p.%3D,ENST00000273951,;GC,synonymous_variant,p.%3D,ENST00000504199,;GC,synonymous_variant,p.%3D,ENST00000513476,;GC,synonymous_variant,p.%3D,ENST00000506245,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,synonymous_variant,p.%3D,ENST00000509740,;GC,non_coding_transcript_exon_variant,,ENST00000505234,;	323	266	206	SUCCESS
ANKRD17	26057	.	GRCh37	4	73956454	73956454	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	23	149	0	ENST00000358602.4:c.6891del	p.Leu2297PhefsTer36	p.L2297Ffs*36	ENST00000358602	NM_032217.3	2297	ttA/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS34004.1	6891	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGATGTAAAGG	NONE	.	.	hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	.	.	ENSP00000351416	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	deletion	ANKRD17,frameshift_variant,p.Leu2297PhefsTer36,ENST00000358602,;ANKRD17,frameshift_variant,p.Leu2184PhefsTer36,ENST00000509867,;ANKRD17,frameshift_variant,p.Leu2046PhefsTer36,ENST00000330838,;ANKRD17,frameshift_variant,p.Leu2181PhefsTer36,ENST00000558247,;	7008	149	164	SUCCESS
ANKRD17	26057	.	GRCh37	4	74124085	74124085	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	55	0	ENST00000358602.4:c.301G>T	p.Gly101Cys	p.G101C	ENST00000358602	NM_032217.3	101	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS34004.1	301	RADIA|MUTECT|MUSE	.	ACCGCCGCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	.	.	ENSP00000351416	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.981)	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	SNV	ANKRD17,missense_variant,p.Gly101Cys,ENST00000561029,;ANKRD17,missense_variant,p.Gly101Cys,ENST00000358602,;ANKRD17,missense_variant,p.Gly101Cys,ENST00000330838,;ANKRD17,upstream_gene_variant,,ENST00000558247,;RP11-692D12.1,upstream_gene_variant,,ENST00000502790,;	418	55	31	SUCCESS
CPZ	8532	.	GRCh37	4	8605757	8605757	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376798665	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	85	0	ENST00000360986.4:c.551G>A	p.Arg184His	p.R184H	ENST00000360986	NM_001014447.2	184	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS33953.1	551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGCTTCA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	.	A:0.0002	ENSP00000354255	.	4/11	.	.	.	.	.	.	.	.	rs376798665	4/11	PASS	ENST00000360986	Transcript	.	.	ENSG00000109625	2333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.14)	.	CBPZ_HUMAN	CPZ	HGNC	.	.	UPI000020BCC5	SNV	CPZ,missense_variant,p.Arg184His,ENST00000360986,;CPZ,missense_variant,p.Arg173His,ENST00000315782,;CPZ,missense_variant,p.Arg47His,ENST00000382480,;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000504070,;CPZ,downstream_gene_variant,,ENST00000506287,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;CPZ,downstream_gene_variant,,ENST00000514875,;	725	85	63	SUCCESS
MAPK10	5602	.	GRCh37	4	87022310	87022310	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	118	0	ENST00000359221.3:c.625G>A	p.Gly209Arg	p.G209R	ENST00000359221		209	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34026.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCAAAGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF162,hmmpanther:PTHR24055,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000352157	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000359221	Transcript	1	.	ENSG00000109339	6872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MK10_HUMAN	MAPK10	HGNC	D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN	.	UPI0000049042	SNV	MAPK10,missense_variant,p.Gly64Arg,ENST00000395160,;MAPK10,missense_variant,p.Gly171Arg,ENST00000395169,;MAPK10,missense_variant,p.Gly122Arg,ENST00000515400,;MAPK10,missense_variant,p.Gly171Arg,ENST00000395166,;MAPK10,missense_variant,p.Gly209Arg,ENST00000395161,;MAPK10,missense_variant,p.Gly64Arg,ENST00000449047,;MAPK10,missense_variant,p.Gly209Arg,ENST00000361569,;MAPK10,missense_variant,p.Gly209Arg,ENST00000359221,;MAPK10,missense_variant,p.Gly64Arg,ENST00000395157,;MAPK10,downstream_gene_variant,,ENST00000512017,;MAPK10,non_coding_transcript_exon_variant,,ENST00000486985,;MAPK10,non_coding_transcript_exon_variant,,ENST00000468020,;MAPK10,non_coding_transcript_exon_variant,,ENST00000479377,;MAPK10,non_coding_transcript_exon_variant,,ENST00000472236,;MAPK10,downstream_gene_variant,,ENST00000513839,;MAPK10,3_prime_UTR_variant,,ENST00000310816,;MAPK10,downstream_gene_variant,,ENST00000430389,;MAPK10,upstream_gene_variant,,ENST00000508262,;	1152	118	97	SUCCESS
MAN2A1	4124	.	GRCh37	5	109178131	109178131	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	276	164	422	0	ENST00000261483.4:c.2669A>G	p.Asn890Ser	p.N890S	ENST00000261483	NM_002372.2	890	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34209.1	2669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAATAGAT	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:2.70.98.30,Pfam_domain:PF07748,Superfamily_domains:SSF74650	.	.	ENSP00000261483	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	tolerated(0.09)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Asn890Ser,ENST00000261483,;CTC-287O8.1,upstream_gene_variant,,ENST00000510014,;	3721	422	440	SUCCESS
SLC12A2	6558	.	GRCh37	5	127520082	127520082	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	265	54	304	0	ENST00000262461.2:c.3324T>A	p.Ile1108=	p.I1108=	ENST00000262461	NM_001046.2	1108	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS4144.1	3324	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTGAGCC	NONE	.	.	hmmpanther:PTHR11827:SF58,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000262461	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,synonymous_variant,p.%3D,ENST00000343225,;SLC12A2,synonymous_variant,p.%3D,ENST00000262461,;SLC12A2,non_coding_transcript_exon_variant,,ENST00000507791,;SLC12A2,synonymous_variant,p.%3D,ENST00000509205,;SLC12A2,downstream_gene_variant,,ENST00000502849,;	3513	304	319	SUCCESS
APBB3	10307	.	GRCh37	5	139943491	139943491	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761240609	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	32	0	ENST00000357560.4:c.59G>C	p.Trp20Ser	p.W20S	ENST00000357560	NM_133173.2	20	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS4227.1	59	MUTECT|MUSE	.	CCCCCCACAAG	NONE	byFrequency	.	hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF10	.	.	ENSP00000346378	.	2/13	.	.	.	.	.	.	.	.	rs761240609	2/13	PASS	ENST00000354402	Transcript	.	.	ENSG00000113108	20708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	APBB3_HUMAN	APBB3	HGNC	F5H1N5_HUMAN	.	UPI0000414594	SNV	APBB3,missense_variant,p.Trp20Ser,ENST00000511201,;APBB3,missense_variant,p.Trp20Ser,ENST00000412920,;APBB3,missense_variant,p.Trp20Ser,ENST00000354402,;APBB3,missense_variant,p.Trp20Ser,ENST00000356738,;APBB3,missense_variant,p.Trp20Ser,ENST00000358580,;APBB3,missense_variant,p.Trp20Ser,ENST00000357560,;APBB3,5_prime_UTR_variant,,ENST00000508496,;SLC35A4,upstream_gene_variant,,ENST00000323146,;SLC35A4,upstream_gene_variant,,ENST00000514199,;APBB3,non_coding_transcript_exon_variant,,ENST00000505617,;APBB3,non_coding_transcript_exon_variant,,ENST00000507279,;APBB3,non_coding_transcript_exon_variant,,ENST00000513766,;SLC35A4,upstream_gene_variant,,ENST00000508770,;APBB3,missense_variant,p.Trp20Ser,ENST00000467078,;APBB3,missense_variant,p.Trp20Ser,ENST00000509914,;APBB3,missense_variant,p.Trp20Ser,ENST00000511896,;APBB3,non_coding_transcript_exon_variant,,ENST00000506165,;APBB3,non_coding_transcript_exon_variant,,ENST00000503850,;APBB3,non_coding_transcript_exon_variant,,ENST00000511459,;APBB3,non_coding_transcript_exon_variant,,ENST00000510241,;APBB3,non_coding_transcript_exon_variant,,ENST00000506289,;APBB3,non_coding_transcript_exon_variant,,ENST00000513507,;APBB3,non_coding_transcript_exon_variant,,ENST00000506958,;APBB3,upstream_gene_variant,,ENST00000515056,;APBB3,upstream_gene_variant,,ENST00000511463,;APBB3,upstream_gene_variant,,ENST00000503979,;SLC35A4,upstream_gene_variant,,ENST00000514137,;APBB3,upstream_gene_variant,,ENST00000504872,;	74	32	32	SUCCESS
PCDHB2	56133	.	GRCh37	5	140476346	140476346	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	95	0	ENST00000194155.4:c.1972G>A	p.Ala658Thr	p.A658T	ENST00000194155	NM_018936.2	658	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4244.1	1972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGCCACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF77,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000194155	.	1/1	.	.	.	.	.	.	.	.	COSM1130890	1/1	PASS	ENST00000194155	Transcript	.	.	ENSG00000112852	8687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.015)	.	deleterious_low_confidence(0.01)	1	PCDB2_HUMAN	PCDHB2	HGNC	.	.	UPI00001273DC	SNV	PCDHB2,missense_variant,p.Ala658Thr,ENST00000194155,;PCDHB3,upstream_gene_variant,,ENST00000231130,;AC005754.7,downstream_gene_variant,,ENST00000607216,;	2120	95	65	SUCCESS
SOX30	11063	.	GRCh37	5	157053481	157053481	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758531533	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	48	78	0	ENST00000265007.6:c.2129C>T	p.Pro710Leu	p.P710L	ENST00000265007	NM_178424.1	710	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4339.1	2129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGGGTTT	NONE	.	.	hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	.	.	ENSP00000265007	.	5/5	.	.	.	.	.	.	.	.	rs758531533	5/5	PASS	ENST00000265007	Transcript	.	.	ENSG00000039600	30635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious(0.04)	.	SOX30_HUMAN	SOX30	HGNC	.	.	UPI00001362BA	SNV	SOX30,missense_variant,p.Pro710Leu,ENST00000265007,;SOX30,missense_variant,p.Pro405Leu,ENST00000519442,;SOX30,3_prime_UTR_variant,,ENST00000311371,;	2471	78	76	SUCCESS
TLX3	30012	.	GRCh37	5	170736625	170736625	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368190023	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	57	105	0	ENST00000296921.5:c.256G>A	p.Gly86Ser	p.G86S	ENST00000296921	NM_021025.2	86	Ggc/Agc	0	A:0	.	.	.	.	A	G/S	protein_coding	YES	CCDS34288.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGGCGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	.	A:0.0001	ENSP00000296921	.	1/3	.	.	.	.	.	.	.	.	rs368190023	1/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,missense_variant,p.Gly86Ser,ENST00000296921,;	338	105	116	SUCCESS
TLX3	30012	.	GRCh37	5	170736626	170736626	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	58	104	0	ENST00000296921.5:c.257G>T	p.Gly86Val	p.G86V	ENST00000296921	NM_021025.2	86	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34288.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCGTGA	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	.	.	ENSP00000296921	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,missense_variant,p.Gly86Val,ENST00000296921,;	339	104	117	SUCCESS
BASP1	10409	.	GRCh37	5	17275434	17275434	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	26	169	0	ENST00000322611.3:c.109C>A	p.Pro37Thr	p.P37T	ENST00000322611	NM_006317.4	37	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3888.1	109	RADIA|VARSCANS	.	GGACCCCGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	COSM3614227	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated(0.05)	1	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,missense_variant,p.Pro37Thr,ENST00000606445,;BASP1,missense_variant,p.Pro37Thr,ENST00000322611,;	369	169	187	SUCCESS
CNOT6	57472	.	GRCh37	5	180001165	180001165	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs746498654	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	33	121	0	ENST00000261951.4:c.1639C>G	p.Gln547Glu	p.Q547E	ENST00000261951	NM_015455.3	547	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS4455.1	1639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCCAAGTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000377024	.	14/14	.	.	.	.	.	.	.	.	rs746498654	14/14	PASS	ENST00000393356	Transcript	.	.	ENSG00000113300	14099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	CNOT6_HUMAN	CNOT6	HGNC	.	.	UPI000013D22B	SNV	CNOT6,missense_variant,p.Gln547Glu,ENST00000393356,;CNOT6,missense_variant,p.Gln547Glu,ENST00000261951,;	2063	121	120	SUCCESS
FAM151B	167555	.	GRCh37	5	79817830	79817830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	59	0	ENST00000282226.4:c.544T>C	p.Trp182Arg	p.W182R	ENST00000282226	NM_205548.2	182	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS4051.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTGGACA	NONE	.	.	hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF3,Pfam_domain:PF10223	.	.	ENSP00000282226	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000282226	Transcript	.	.	ENSG00000152380	33716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	tolerated(1)	.	F151B_HUMAN	FAM151B	HGNC	.	.	UPI000022C849	SNV	FAM151B,missense_variant,p.Trp182Arg,ENST00000282226,;FAM151B,non_coding_transcript_exon_variant,,ENST00000511718,;FAM151B,non_coding_transcript_exon_variant,,ENST00000509292,;	699	59	53	SUCCESS
WASF1	8936	.	GRCh37	6	110448713	110448713	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	25	118	0	ENST00000359451.2:c.92A>T	p.Asn31Ile	p.N31I	ENST00000359451	NM_001024935.1	31	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS5080.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATTGGTT	NONE	.	.	hmmpanther:PTHR12902	.	.	ENSP00000376368	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000392589	Transcript	.	.	ENSG00000112290	12732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	WASF1_HUMAN	WASF1	HGNC	Q5SZK5_HUMAN,Q5SZK4_HUMAN,Q5SZK3_HUMAN	.	UPI000003AC31	SNV	WASF1,missense_variant,p.Asn31Ile,ENST00000392588,;WASF1,missense_variant,p.Asn31Ile,ENST00000368938,;WASF1,missense_variant,p.Asn31Ile,ENST00000392586,;WASF1,missense_variant,p.Asn31Ile,ENST00000419252,;WASF1,missense_variant,p.Asn31Ile,ENST00000447287,;WASF1,missense_variant,p.Asn31Ile,ENST00000359451,;WASF1,missense_variant,p.Asn31Ile,ENST00000265601,;WASF1,missense_variant,p.Asn31Ile,ENST00000444391,;WASF1,missense_variant,p.Asn31Ile,ENST00000392587,;WASF1,missense_variant,p.Asn31Ile,ENST00000392589,;	929	118	126	SUCCESS
DSE	29940	.	GRCh37	6	116756880	116756880	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	49	139	0	ENST00000331677.3:c.1249T>C	p.Phe417Leu	p.F417L	ENST00000331677		417	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS5107.1	1249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTTCAAG	NONE	.	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532	.	.	ENSP00000332151	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious(0.01)	.	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,missense_variant,p.Phe417Leu,ENST00000452085,;DSE,missense_variant,p.Phe417Leu,ENST00000331677,;DSE,missense_variant,p.Phe436Leu,ENST00000537543,;DSE,missense_variant,p.Phe417Leu,ENST00000359564,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	1693	139	186	SUCCESS
TRDN	10345	.	GRCh37	6	123673710	123673710	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	94	0	ENST00000334268.4:c.1343A>T	p.Glu448Val	p.E448V	ENST00000334268		448	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS55053.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0	.	.	ENSP00000381240	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious_low_confidence(0)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Glu448Val,ENST00000398178,;TRDN,missense_variant,p.Glu448Val,ENST00000334268,;	1365	94	94	SUCCESS
TAB2	23118	.	GRCh37	6	149700569	149700569	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	53	142	0	ENST00000367456.1:c.1518C>A	p.Leu506=	p.L506=	ENST00000367456		506	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5214.1	1518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCACGGA	NONE	.	.	hmmpanther:PTHR10351:SF27,hmmpanther:PTHR10351	.	.	ENSP00000356426	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000367456	Transcript	.	.	ENSG00000055208	17075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAB2_HUMAN	TAB2	HGNC	U3KQR0_HUMAN	.	UPI0000073C75	SNV	TAB2,synonymous_variant,p.%3D,ENST00000538427,;TAB2,synonymous_variant,p.%3D,ENST00000286332,;TAB2,synonymous_variant,p.%3D,ENST00000392282,;TAB2,synonymous_variant,p.%3D,ENST00000536230,;TAB2,synonymous_variant,p.%3D,ENST00000367456,;TAB2,downstream_gene_variant,,ENST00000606202,;TAB2,synonymous_variant,p.%3D,ENST00000470466,;	2095	142	178	SUCCESS
HIST1H4D	0	.	GRCh37	6	26189297	26189297	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749934539	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	37	0	ENST00000340756.2:c.8G>C	p.Gly3Ala	p.G3A	ENST00000340756	NM_003539.3	3	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS4589.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGCCAGAC	NONE	.	.	Superfamily_domains:SSF47113,Gene3D:1.10.20.10,hmmpanther:PTHR10484,Low_complexity_(Seg):seg	.	.	ENSP00000343282	.	1/1	.	.	.	.	.	.	.	.	COSM3777387	1/1	PASS	ENST00000340756	Transcript	.	.	ENSG00000188987	4782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	1	H4_HUMAN	HIST1H4D	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4D,missense_variant,p.Gly3Ala,ENST00000340756,;HIST1H2BE,downstream_gene_variant,,ENST00000356530,;	8	37	55	SUCCESS
OR2J2	26707	.	GRCh37	6	29141346	29141346	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	38	0	ENST00000377167.2:c.-67C>A		p.*23*	ENST00000377167	NM_030905.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43434.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCGGTTG	NONE	.	.	.	.	.	ENSP00000366372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377167	Transcript	.	.	ENSG00000204700	8260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2J2_HUMAN	OR2J2	HGNC	.	.	UPI000004B9D1	SNV	OR2J2,5_prime_UTR_variant,,ENST00000377167,;	36	38	58	SUCCESS
MEP1A	4224	.	GRCh37	6	46803136	46803136	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	81	0	ENST00000230588.4:c.1934A>T	p.Gln645Leu	p.Q645L	ENST00000230588	NM_005588.2	645	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4918.1	1934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGGGGC	NONE	.	.	PIRSF_domain:PIRSF001196	.	.	ENSP00000230588	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000230588	Transcript	.	.	ENSG00000112818	7015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.28)	.	MEP1A_HUMAN	MEP1A	HGNC	.	.	UPI000006E4E9	SNV	MEP1A,missense_variant,p.Gln645Leu,ENST00000230588,;	1943	81	103	SUCCESS
GPR116	0	.	GRCh37	6	46834865	46834865	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	69	1	ENST00000265417.7:c.1631A>G	p.His544Arg	p.H544R	ENST00000265417	NM_015234.4	544	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS4919.1	1631	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCAGTGATAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000283296	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.36)	.	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	SNV	GPR116,missense_variant,p.His544Arg,ENST00000265417,;GPR116,missense_variant,p.His402Arg,ENST00000456426,;GPR116,missense_variant,p.His544Arg,ENST00000283296,;GPR116,missense_variant,p.His544Arg,ENST00000362015,;GPR116,5_prime_UTR_variant,,ENST00000545669,;GPR116,upstream_gene_variant,,ENST00000498632,;	1920	70	69	SUCCESS
CRISP1	167	.	GRCh37	6	49825047	49825047	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs755752840	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	275	108	310	0	ENST00000335847.4:c.66+1G>T		p.X22_splice	ENST00000335847	NM_001131.2	22		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4931.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACTTTCA	NONE	.	.	.	.	.	ENSP00000338276	.	.	.	.	.	.	.	.	.	.	rs755752840	.	PASS	ENST00000335847	Transcript	.	.	ENSG00000124812	304	.	.	HIGH	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIS1_HUMAN	CRISP1	HGNC	.	.	UPI0000128482	SNV	CRISP1,splice_donor_variant,,ENST00000507853,;CRISP1,splice_donor_variant,,ENST00000329411,;CRISP1,splice_donor_variant,,ENST00000335847,;CRISP1,splice_donor_variant,,ENST00000536021,;CRISP1,splice_donor_variant,,ENST00000505118,;CRISP1,splice_donor_variant,,ENST00000355791,;	.	310	383	SUCCESS
COL12A1	1303	.	GRCh37	6	75853040	75853040	+	synonymous_variant	Silent	SNP	A	A	G	rs746556967	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	22	104	0	ENST00000322507.8:c.4755T>C	p.Phe1585=	p.F1585=	ENST00000322507	NM_004370.5	1585	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS43482.1	4755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAAAAGAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	26/66	.	.	.	.	.	.	.	.	rs746556967	26/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000419671,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,synonymous_variant,p.%3D,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000474564,;	5065	104	113	SUCCESS
FAXC	84553	.	GRCh37	6	99781226	99781226	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	78	0	ENST00000389677.5:c.599+1G>T		p.X200_splice	ENST00000389677	NM_032511.2	200		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34500.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACCAGTA	NONE	.	.	.	.	.	ENSP00000374328	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389677	Transcript	.	.	ENSG00000146267	20742	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAXC_HUMAN	FAXC	HGNC	Q9BR58_HUMAN	.	UPI000006FEA4	SNV	FAXC,splice_donor_variant,,ENST00000389677,;FAXC,intron_variant,,ENST00000538471,;FAXC,splice_donor_variant,,ENST00000480148,;	.	78	74	SUCCESS
FAXC	84553	.	GRCh37	6	99781227	99781227	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	79	0	ENST00000389677.5:c.599G>C	p.Trp200Ser	p.W200S	ENST00000389677	NM_032511.2	200	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS34500.1	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCAGTAG	NONE	.	.	hmmpanther:PTHR12289:SF27,hmmpanther:PTHR12289,Pfam_domain:PF14497,Superfamily_domains:SSF52833	.	.	ENSP00000374328	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000389677	Transcript	.	.	ENSG00000146267	20742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	FAXC_HUMAN	FAXC	HGNC	Q9BR58_HUMAN	.	UPI000006FEA4	SNV	FAXC,missense_variant,p.Trp200Ser,ENST00000389677,;FAXC,intron_variant,,ENST00000538471,;FAXC,splice_region_variant,,ENST00000480148,;	882	79	76	SUCCESS
CYP2W1	54905	.	GRCh37	7	1026832	1026832	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	64	94	0	ENST00000308919.7:c.909C>T	p.Ala303=	p.A303=	ENST00000308919	NM_017781.2	303	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5319.2	909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCCACGCT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF50,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00385	.	.	ENSP00000310149	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000308919	Transcript	.	.	ENSG00000073067	20243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2W1_HUMAN	CYP2W1	HGNC	.	.	UPI000013C59A	SNV	CYP2W1,synonymous_variant,p.%3D,ENST00000415893,;CYP2W1,synonymous_variant,p.%3D,ENST00000340150,;CYP2W1,synonymous_variant,p.%3D,ENST00000308919,;CYP2W1,non_coding_transcript_exon_variant,,ENST00000468456,;CYP2W1,non_coding_transcript_exon_variant,,ENST00000462453,;	922	94	142	SUCCESS
SLC26A3	1811	.	GRCh37	7	107435030	107435030	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	30	0	ENST00000340010.5:c.-76T>A		p.*26*	ENST00000340010	NM_000111.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5748.1	.	MUTECT|MUSE	.	TTAGCAGGTTA	NONE	.	.	.	.	.	ENSP00000345873	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000340010	Transcript	.	.	ENSG00000091138	3018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S26A3_HUMAN	SLC26A3	HGNC	Q75N04_HUMAN,C9JFJ2_HUMAN	.	UPI000000128C	SNV	SLC26A3,5_prime_UTR_variant,,ENST00000340010,;SLC26A3,5_prime_UTR_variant,,ENST00000422236,;SLC26A3,5_prime_UTR_variant,,ENST00000453332,;SLC26A3,5_prime_UTR_variant,,ENST00000379083,;	110	30	46	SUCCESS
LAMB4	22798	.	GRCh37	7	107689935	107689935	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	75	0	ENST00000205386.4:c.3958T>C	p.Ser1320Pro	p.S1320P	ENST00000205386		1320	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS34732.1	3958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGATGATG	NONE	.	.	.	.	.	ENSP00000373433	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	tolerated(0.3)	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	SNV	LAMB4,missense_variant,p.Ser1320Pro,ENST00000388781,;LAMB4,missense_variant,p.Ser346Pro,ENST00000422975,;LAMB4,missense_variant,p.Ser1320Pro,ENST00000388780,;LAMB4,missense_variant,p.Ser1320Pro,ENST00000205386,;	4042	75	73	SUCCESS
VWDE	221806	.	GRCh37	7	12397064	12397064	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs575787774	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	13	98	0	ENST00000275358.3:c.3352G>T	p.Val1118Leu	p.V1118L	ENST00000275358	NM_001135924.1	1118	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS47544.1	3352	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGAACT	NONE	byCluster	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	17/29	.	.	.	.	.	.	.	.	rs575787774	17/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.86)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Val1118Leu,ENST00000275358,;VWDE,missense_variant,p.Val1118Leu,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	3541	98	115	SUCCESS
VWDE	221806	.	GRCh37	7	12407058	12407058	+	synonymous_variant	Silent	SNP	A	A	G	rs764170691	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	129	260	0	ENST00000275358.3:c.2823T>C	p.Asn941=	p.N941=	ENST00000275358	NM_001135924.1	941	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS47544.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAATTATA	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	13/29	.	.	.	.	.	.	.	.	rs764170691	13/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,synonymous_variant,p.%3D,ENST00000275358,;VWDE,synonymous_variant,p.%3D,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	3012	260	307	SUCCESS
PRSS37	136242	.	GRCh37	7	141537856	141537856	+	synonymous_variant	Silent	SNP	C	C	T	rs201423018	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	108	0	ENST00000350549.3:c.234G>A	p.Gln78=	p.Q78=	ENST00000350549	NM_001008270.2	78	caG/caA	0	.	G:0.0008	.	G:0	.	T	Q	protein_coding	YES	CCDS34764.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTCTGTTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF29,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	G:0	.	ENSP00000297767	G:0	3/5	.	.	.	.	.	.	.	.	rs201423018	3/5	PASS	ENST00000350549	Transcript	.	G:0.0002	ENSG00000165076	29211	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PRS37_HUMAN	PRSS37	HGNC	B7ZMK3_HUMAN	.	UPI000004223A	SNV	PRSS37,synonymous_variant,p.%3D,ENST00000438520,;PRSS37,synonymous_variant,p.%3D,ENST00000350549,;PRSS37,3_prime_UTR_variant,,ENST00000452758,;PRSS37,3_prime_UTR_variant,,ENST00000419085,;	606	108	117	SUCCESS
DPP6	1804	.	GRCh37	7	153750140	153750140	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760726966	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	19	0	ENST00000377770.3:c.235G>A	p.Glu79Lys	p.E79K	ENST00000377770		79	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	235	MUTECT|MUSE	.	GTGACGAGGAG	NONE	byFrequency	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	1/26	.	.	.	.	.	.	.	.	rs760726966,COSM3747707,COSM3747708	1/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.022)	.	tolerated(0.36)	0,1,1	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Glu79Lys,ENST00000377770,;DPP6,missense_variant,p.Glu79Lys,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,;AC006019.3,downstream_gene_variant,,ENST00000425591,;	376	19	23	SUCCESS
MACC1	346389	.	GRCh37	7	20198940	20198940	+	synonymous_variant	Silent	SNP	A	A	T	rs760558119	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	27	99	0	ENST00000332878.4:c.1044T>A	p.Val348=	p.V348=	ENST00000332878		348	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5369.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAACCAC	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	rs760558119	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,synonymous_variant,p.%3D,ENST00000589011,;MACC1,synonymous_variant,p.%3D,ENST00000400331,;MACC1,synonymous_variant,p.%3D,ENST00000332878,;	1353	99	153	SUCCESS
GRID2IP	392862	.	GRCh37	7	6547736	6547736	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	21	0	ENST00000457091.2:c.2424C>T	p.Pro808=	p.P808=	ENST00000457091	NM_001145118.1	808	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47537.1	2424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGGGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15	.	.	ENSP00000397351	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000457091	Transcript	.	.	ENSG00000215045	18464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRD2I_HUMAN	GRID2IP	HGNC	.	.	UPI0001722D0B	SNV	GRID2IP,synonymous_variant,p.%3D,ENST00000457091,;GRID2IP,synonymous_variant,p.%3D,ENST00000452113,;GRID2IP,synonymous_variant,p.%3D,ENST00000435185,;	2424	21	31	SUCCESS
PMS2CL	441194	.	GRCh37	7	6777037	6777037	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	46	0	ENST00000403974.2:n.416A>G		p.*139*	ENST00000403974				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAAGGACT	NONE	.	.	.	.	.	.	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000403974	Transcript	.	.	ENSG00000187953	30061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PMS2CL	HGNC	.	.	.	SNV	PMS2CL,non_coding_transcript_exon_variant,,ENST00000486256,;PMS2CL,upstream_gene_variant,,ENST00000431453,;PMS2CL,non_coding_transcript_exon_variant,,ENST00000403974,;	416	46	50	SUCCESS
GNAT3	346562	.	GRCh37	7	80088145	80088145	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1422975389	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	65	0	ENST00000398291.3:c.907A>G	p.Ile303Val	p.I303V	ENST00000398291	NM_001102386.1	303	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47625.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATGTAGT	NONE	.	.	Prints_domain:PR00441,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	.	.	ENSP00000381339	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000398291	Transcript	.	.	ENSG00000214415	22800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.03)	.	GNAT3_HUMAN	GNAT3	HGNC	.	.	UPI0000198E14	SNV	GNAT3,missense_variant,p.Ile303Val,ENST00000398291,;CD36,intron_variant,,ENST00000435819,;	1001	65	62	SUCCESS
CSMD3	114788	.	GRCh37	8	113326738	113326738	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	44	159	0	ENST00000297405.5:c.7469T>A	p.Val2490Glu	p.V2490E	ENST00000297405	NM_198123.1	2490	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS6315.1	7469	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCACTGAA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	48/71	.	.	.	.	.	.	.	.	.	48/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Val2420Glu,ENST00000352409,;CSMD3,missense_variant,p.Val2386Glu,ENST00000455883,;CSMD3,missense_variant,p.Val2490Glu,ENST00000297405,;CSMD3,missense_variant,p.Val1760Glu,ENST00000339701,;CSMD3,missense_variant,p.Val2450Glu,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7714	159	233	SUCCESS
GPAA1	8733	.	GRCh37	8	145140854	145140854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	18	0	ENST00000355091.4:c.1692G>T	p.Trp564Cys	p.W564C	ENST00000355091	NM_003801.3	564	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS43776.1	1692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGCGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13304:SF0,hmmpanther:PTHR13304,Pfam_domain:PF04114,PIRSF_domain:PIRSF036762	.	.	ENSP00000347206	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000355091	Transcript	.	.	ENSG00000197858	4446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.04)	.	GPAA1_HUMAN	GPAA1	HGNC	E9PLG8_HUMAN	.	UPI0000073ECC	SNV	GPAA1,missense_variant,p.Trp504Cys,ENST00000361036,;GPAA1,missense_variant,p.Trp564Cys,ENST00000355091,;GPAA1,downstream_gene_variant,,ENST00000524418,;GPAA1,downstream_gene_variant,,ENST00000525087,;GPAA1,downstream_gene_variant,,ENST00000530258,;GPAA1,downstream_gene_variant,,ENST00000527144,;GPAA1,downstream_gene_variant,,ENST00000526233,;GPAA1,downstream_gene_variant,,ENST00000526341,;GPAA1,non_coding_transcript_exon_variant,,ENST00000530796,;GPAA1,non_coding_transcript_exon_variant,,ENST00000534072,;GPAA1,non_coding_transcript_exon_variant,,ENST00000529638,;GPAA1,downstream_gene_variant,,ENST00000528073,;GPAA1,downstream_gene_variant,,ENST00000531593,;GPAA1,downstream_gene_variant,,ENST00000530633,;GPAA1,downstream_gene_variant,,ENST00000527653,;GPAA1,downstream_gene_variant,,ENST00000532758,;GPAA1,downstream_gene_variant,,ENST00000529503,;GPAA1,downstream_gene_variant,,ENST00000525308,;	1813	18	42	SUCCESS
RECQL4	9401	.	GRCh37	8	145737119	145737119	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	7	66	0	ENST00000428558.2:c.3447G>A	p.Leu1149=	p.L1149=	ENST00000428558	NM_004260.3	1149	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	.	3447	MUTECT|MUSE	.	GGCCTCAGGGA	NONE	.	.	hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1	.	.	ENSP00000475456	.	21/22	.	.	.	.	.	.	.	.	COSM3834300	21/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,synonymous_variant,p.%3D,ENST00000428558,;MFSD3,downstream_gene_variant,,ENST00000301327,;GPT,downstream_gene_variant,,ENST00000528431,;GPT,downstream_gene_variant,,ENST00000394955,;RECQL4,downstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000524998,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,upstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000531875,;RECQL4,non_coding_transcript_exon_variant,,ENST00000529424,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,3_prime_UTR_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;MFSD3,downstream_gene_variant,,ENST00000526749,;	3489	66	110	SUCCESS
ZNF7	7553	.	GRCh37	8	146067302	146067302	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	59	0	ENST00000528372.1:c.810A>G	p.Arg270=	p.R270=	ENST00000528372		270	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS6435.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGAATCCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,synonymous_variant,p.%3D,ENST00000528372,;ZNF7,synonymous_variant,p.%3D,ENST00000446747,;ZNF7,synonymous_variant,p.%3D,ENST00000325241,;ZNF7,synonymous_variant,p.%3D,ENST00000544249,;ZNF7,3_prime_UTR_variant,,ENST00000529819,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	1050	59	129	SUCCESS
C8orf58	541565	.	GRCh37	8	22460754	22460754	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373658775	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	57	141	0	ENST00000289989.5:c.1033C>T	p.Arg345Trp	p.R345W	ENST00000289989		345	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS34862.1	1033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCGGAAG	NONE	byCluster	.	Pfam_domain:PF15552	.	T:0.0001	ENSP00000289989	.	7/7	.	.	.	.	.	.	.	.	rs373658775	7/7	PASS	ENST00000289989	Transcript	.	.	ENSG00000241852	32233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	CH058_HUMAN	C8orf58	HGNC	.	.	UPI000022D4E7	SNV	C8orf58,missense_variant,p.Arg345Trp,ENST00000289989,;C8orf58,missense_variant,p.Arg337Trp,ENST00000409586,;CCAR2,upstream_gene_variant,,ENST00000523349,;CCAR2,upstream_gene_variant,,ENST00000389279,;AC037459.4,downstream_gene_variant,,ENST00000450780,;C8orf58,downstream_gene_variant,,ENST00000475994,;CCAR2,upstream_gene_variant,,ENST00000521837,;CCAR2,upstream_gene_variant,,ENST00000523801,;C8orf58,downstream_gene_variant,,ENST00000495957,;CCAR2,upstream_gene_variant,,ENST00000521301,;CCAR2,upstream_gene_variant,,ENST00000308511,;AC037459.4,downstream_gene_variant,,ENST00000430850,;CCAR2,upstream_gene_variant,,ENST00000520861,;CCAR2,upstream_gene_variant,,ENST00000518989,;AC037459.4,downstream_gene_variant,,ENST00000447849,;C8orf58,downstream_gene_variant,,ENST00000453427,;	1107	141	131	SUCCESS
STMN4	81551	.	GRCh37	8	27097475	27097475	+	intron_variant	Intron	SNP	A	A	T	rs759073514	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	80	0	ENST00000265770.7:c.510+13T>A		p.*170*	ENST00000265770	NM_001283054.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6055.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCAGGGAC	NONE	.	.	.	.	.	ENSP00000342538	.	.	.	.	.	.	.	.	.	.	rs759073514	.	PASS	ENST00000350889	Transcript	.	.	ENSG00000015592	16078	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STMN4_HUMAN	STMN4	HGNC	.	.	UPI000002B451	SNV	STMN4,missense_variant,p.Trp175Arg,ENST00000519614,;STMN4,missense_variant,p.Trp202Arg,ENST00000522908,;STMN4,intron_variant,,ENST00000523048,;STMN4,intron_variant,,ENST00000350889,;STMN4,intron_variant,,ENST00000265770,;STMN4,intron_variant,,ENST00000519997,;STMN4,downstream_gene_variant,,ENST00000522750,;	.	80	75	SUCCESS
CHRNA2	1135	.	GRCh37	8	27324779	27324779	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770447351	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	99	1	ENST00000407991.1:c.416T>C	p.Met139Thr	p.M139T	ENST00000407991	NM_000742.3	139	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS6059.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCATCTCA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF83,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252,Prints_domain:PR00254	.	.	ENSP00000385026	.	5/7	.	.	.	.	.	.	.	.	rs770447351	5/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	tolerated(0.52)	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,missense_variant,p.Met139Thr,ENST00000407991,;CHRNA2,missense_variant,p.Met124Thr,ENST00000240132,;CHRNA2,missense_variant,p.Met139Thr,ENST00000520933,;CHRNA2,downstream_gene_variant,,ENST00000518712,;CHRNA2,downstream_gene_variant,,ENST00000524096,;CHRNA2,downstream_gene_variant,,ENST00000521921,;CHRNA2,downstream_gene_variant,,ENST00000520208,;CHRNA2,missense_variant,p.Met139Thr,ENST00000523695,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000522008,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000520650,;	1025	100	66	SUCCESS
PXDNL	137902	.	GRCh37	8	52387637	52387637	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760653043	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	92	135	1	ENST00000356297.4:c.589G>A	p.Gly197Ser	p.G197S	ENST00000356297	NM_144651.4	197	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS47855.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCCTTGTA	NONE	.	.	Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000348645	.	7/23	.	.	.	.	.	.	.	.	rs760653043	7/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.73)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Gly197Ser,ENST00000543296,;PXDNL,missense_variant,p.Gly197Ser,ENST00000356297,;	690	136	195	SUCCESS
NCOA2	10499	.	GRCh37	8	71082595	71082597	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	127	33	114	0	ENST00000452400.2:c.381_383del	p.Phe128del	p.F128del	ENST00000452400	NM_006540.2	127	ttCTTt/ttt	0	.	.	.	.	.	-	FF/F	protein_coding	YES	CCDS47872.1	381-383	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTACAAAGAAGAA	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,Gene3D:3.30.450.20,Pfam_domain:PF00989,PIRSF_domain:PIRSF038181,SMART_domains:SM00091,Superfamily_domains:SSF55785	.	.	ENSP00000399968	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	deletion	NCOA2,inframe_deletion,p.Phe128del,ENST00000452400,;NCOA2,inframe_deletion,p.Phe128del,ENST00000518287,;	563-565	114	160	SUCCESS
DEFB104A	140596	.	GRCh37	8	7698631	7698631	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	48	277	0	ENST00000314265.2:c.134A>T	p.Glu45Val	p.E45V	ENST00000314265	NM_080389.2	45	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34834.1	134	RADIA|VARSCANS	.	CCAAGAATACA	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF13,Pfam_domain:PF13841	.	.	ENSP00000320813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314265	Transcript	.	.	ENSG00000176782	18115	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	D104A_HUMAN	DEFB104A	HGNC	.	.	UPI000013F79C	SNV	DEFB104A,missense_variant,p.Glu45Val,ENST00000314265,;	148	277	283	SUCCESS
KCNS2	3788	.	GRCh37	8	99440321	99440321	+	synonymous_variant	Silent	SNP	C	C	T	rs778298625	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	15	79	0	ENST00000287042.4:c.114C>T	p.Phe38=	p.F38=	ENST00000287042	NM_020697.2	38	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS6279.1	114	MUTECT|MUSE|VARSCANS	.	CGCTTCCCCGA	NONE	byFrequency	.	Prints_domain:PR01494,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60	.	.	ENSP00000287042	.	2/2	.	.	.	.	.	.	.	.	rs778298625	2/2	PASS	ENST00000287042	Transcript	.	.	ENSG00000156486	6301	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNS2_HUMAN	KCNS2	HGNC	.	.	UPI0000001653	SNV	KCNS2,synonymous_variant,p.%3D,ENST00000287042,;KCNS2,synonymous_variant,p.%3D,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	464	79	141	SUCCESS
GLE1	2733	.	GRCh37	9	131285594	131285601	+	frameshift_variant	Frame_Shift_Del	DEL	AAGCTGAG	AAGCTGAG	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	AAGCTGAG	AAGCTGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	121	0	ENST00000309971.4:c.617_624del	p.Lys206ThrfsTer58	p.K206Tfs*58	ENST00000309971	NM_001003722.1	206	aAAGCTGAG/a	0	.	.	.	.	.	-	KAE/X	protein_coding	YES	CCDS35154.1	617-624	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTAAAAGCTGAGCACCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12960:SF0,hmmpanther:PTHR12960	.	.	ENSP00000308622	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000309971	Transcript	.	.	ENSG00000119392	4315	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLE1_HUMAN	GLE1	HGNC	B3KMG0_HUMAN	.	UPI000013EF77	deletion	GLE1,frameshift_variant,p.Lys206ThrfsTer58,ENST00000372770,;GLE1,frameshift_variant,p.Lys206ThrfsTer58,ENST00000309971,;GLE1,5_prime_UTR_variant,,ENST00000539582,;GLE1,upstream_gene_variant,,ENST00000494417,;	723-730	121	102	SUCCESS
KCNT1	57582	.	GRCh37	9	138647016	138647016	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	39	0	ENST00000488444.2:c.483+1G>T		p.X161_splice	ENST00000488444		161		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35175.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGTGAGT	NONE	.	.	.	.	.	ENSP00000360822	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	HIGH	6/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,splice_donor_variant,,ENST00000473941,;KCNT1,splice_donor_variant,,ENST00000486577,;KCNT1,splice_donor_variant,,ENST00000490355,;KCNT1,splice_donor_variant,,ENST00000263604,;KCNT1,splice_donor_variant,,ENST00000491806,;KCNT1,splice_donor_variant,,ENST00000298480,;KCNT1,splice_donor_variant,,ENST00000487664,;KCNT1,splice_donor_variant,,ENST00000371757,;KCNT1,splice_donor_variant,,ENST00000488444,;KCNT1,splice_donor_variant,,ENST00000460750,;KCNT1,splice_donor_variant,,ENST00000490363,;	.	39	49	SUCCESS
SNAPC3	6619	.	GRCh37	9	15422788	15422788	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	18	0	ENST00000380821.3:c.-90C>G		p.*30*	ENST00000380821	NM_001039697.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6478.1	.	MUTECT|MUSE	.	GCTCGCCGGCC	NONE	.	.	.	.	.	ENSP00000370200	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000380821	Transcript	.	.	ENSG00000164975	11136	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNPC3_HUMAN	SNAPC3	HGNC	Q5T284_HUMAN	.	UPI0000135B24	SNV	SNAPC3,5_prime_UTR_variant,,ENST00000380821,;SNAPC3,upstream_gene_variant,,ENST00000421710,;SNAPC3,upstream_gene_variant,,ENST00000461041,;SNAPC3,5_prime_UTR_variant,,ENST00000467062,;SNAPC3,upstream_gene_variant,,ENST00000490969,;	87	18	23	SUCCESS
RPS6	6194	.	GRCh37	9	19376359	19376380	+	frameshift_variant	Frame_Shift_Del	DEL	TTTGTTCCTGGCGCTTCTCCTT	TTTGTTCCTGGCGCTTCTCCTT	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	TTTGTTCCTGGCGCTTCTCCTT	TTTGTTCCTGGCGCTTCTCCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	83	10	132	0	ENST00000380394.4:c.661_682del	p.Lys221LeufsTer26	p.K221Lfs*26	ENST00000380394	NM_001010.2	221	AAGGAGAAGCGCCAGGAACAAAtt/tt	0	.	.	.	.	.	-	KEKRQEQI/X	protein_coding	YES	CCDS6492.1	661-682	INDELOCATOR*|PINDEL	.	TCGCAATTTGTTCCTGGCGCTTCTCCTTAGCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11502,hmmpanther:PTHR11502:SF6,PIRSF_domain:PIRSF002129	.	.	ENSP00000369757	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000380394	Transcript	.	.	ENSG00000137154	10429	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS6_HUMAN	RPS6	HGNC	A2A3R6_HUMAN,A2A3R5_HUMAN	.	UPI00000018E3	deletion	RPS6,frameshift_variant,p.Lys190LeufsTer26,ENST00000380384,;RPS6,frameshift_variant,p.Lys190LeufsTer?,ENST00000315377,;RPS6,frameshift_variant,p.Lys221LeufsTer26,ENST00000380394,;DENND4C,downstream_gene_variant,,ENST00000361024,;DENND4C,downstream_gene_variant,,ENST00000380432,;RPS6,downstream_gene_variant,,ENST00000380381,;DENND4C,downstream_gene_variant,,ENST00000434457,;DENND4C,downstream_gene_variant,,ENST00000602925,;DENND4C,downstream_gene_variant,,ENST00000380427,;RP11-513M16.8,downstream_gene_variant,,ENST00000609982,;RP11-513M16.7,upstream_gene_variant,,ENST00000609609,;RPS6,non_coding_transcript_exon_variant,,ENST00000498815,;DENND4C,downstream_gene_variant,,ENST00000380437,;DENND4C,downstream_gene_variant,,ENST00000494124,;	720-741	132	93	SUCCESS
NTRK2	4915	.	GRCh37	9	87342704	87342704	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	43	124	0	ENST00000277120.3:c.989T>C	p.Ile330Thr	p.I330T	ENST00000277120		330	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS6671.1	989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACATCTGTA	NONE	.	.	hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Prints_domain:PR01941	.	.	ENSP00000365387	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,missense_variant,p.Ile330Thr,ENST00000323115,;NTRK2,missense_variant,p.Ile174Thr,ENST00000395866,;NTRK2,missense_variant,p.Ile330Thr,ENST00000395882,;NTRK2,missense_variant,p.Ile330Thr,ENST00000376213,;NTRK2,missense_variant,p.Ile330Thr,ENST00000376208,;NTRK2,missense_variant,p.Ile330Thr,ENST00000277120,;NTRK2,missense_variant,p.Ile330Thr,ENST00000376214,;NTRK2,missense_variant,p.Ile330Thr,ENST00000359847,;NTRK2,missense_variant,p.Ile330Thr,ENST00000304053,;	1927	124	134	SUCCESS
NXF3	56000	.	GRCh37	X	102333500	102333500	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	268	335	532	2	ENST00000395065.3:c.1439G>C	p.Gly480Ala	p.G480A	ENST00000395065	NM_022052.1	480	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS14503.1	1439	RADIA|SOMATICSNIPER|VARSCANS	.	TGCTGCCAGGG	NONE	.	.	PROSITE_profiles:PS50177,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.085)	.	tolerated(1)	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Gly480Ala,ENST00000395065,;NXF3,missense_variant,p.Trp353Cys,ENST00000427570,;NXF3,missense_variant,p.Gly152Ala,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,non_coding_transcript_exon_variant,,ENST00000468528,;NXF3,non_coding_transcript_exon_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000460791,;	1541	534	603	SUCCESS
KIAA1210	57481	.	GRCh37	X	118220842	118220842	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1396793951	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	64	72	0	ENST00000402510.2:c.4351G>A	p.Glu1451Lys	p.E1451K	ENST00000402510	NM_020721.1	1451	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS48156.1	4351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCTTTCT	NONE	.	.	.	.	.	ENSP00000384670	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	tolerated(0.08)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Glu1451Lys,ENST00000402510,;	4351	72	110	SUCCESS
SHROOM4	57477	.	GRCh37	X	50341497	50341497	+	synonymous_variant	Silent	SNP	G	G	T	rs1459368392	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	59	81	0	ENST00000289292.7:c.3981C>A	p.Val1327=	p.V1327=	ENST00000289292		1327	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS35277.1	3981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAAGACAGA	NONE	.	.	PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012,Pfam_domain:PF08687	.	.	ENSP00000365188	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,synonymous_variant,p.%3D,ENST00000376020,;SHROOM4,synonymous_variant,p.%3D,ENST00000289292,;SHROOM4,synonymous_variant,p.%3D,ENST00000460112,;SHROOM4,upstream_gene_variant,,ENST00000483955,;	4007	81	105	SUCCESS
DGAT2L6	347516	.	GRCh37	X	69420190	69420190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	53	86	0	ENST00000333026.3:c.353T>C	p.Ile118Thr	p.I118T	ENST00000333026	NM_198512.1	118	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS14397.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATCAACT	NONE	.	.	hmmpanther:PTHR12317:SF11,hmmpanther:PTHR12317,Pfam_domain:PF03982	.	.	ENSP00000328036	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000333026	Transcript	.	.	ENSG00000184210	23250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	tolerated(0.12)	.	DG2L6_HUMAN	DGAT2L6	HGNC	.	.	UPI00001C10BF	SNV	DGAT2L6,missense_variant,p.Ile118Thr,ENST00000333026,;	453	86	93	SUCCESS
POLL	27343	.	GRCh37	10	103343233	103343233	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	37	0	ENST00000299206.4:c.1065+32T>G		p.*355*	ENST00000299206				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7513.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAAAACTG	NONE	.	.	.	.	.	ENSP00000359181	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370162	Transcript	.	.	ENSG00000166169	9184	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLL_HUMAN	POLL	HGNC	Q5JQP8_HUMAN,Q5ZEY5_HUMAN,Q5JQP1_HUMAN,Q5JQP0_HUMAN,B4DE17_HUMAN	.	UPI00000398A1	SNV	POLL,3_prime_UTR_variant,,ENST00000436284,;POLL,intron_variant,,ENST00000429502,;POLL,intron_variant,,ENST00000415897,;POLL,intron_variant,,ENST00000299206,;POLL,intron_variant,,ENST00000339310,;POLL,intron_variant,,ENST00000456836,;DPCD,intron_variant,,ENST00000416979,;POLL,intron_variant,,ENST00000370158,;POLL,intron_variant,,ENST00000370169,;POLL,intron_variant,,ENST00000370172,;POLL,intron_variant,,ENST00000370162,;POLL,downstream_gene_variant,,ENST00000413344,;POLL,downstream_gene_variant,,ENST00000430045,;DPCD,upstream_gene_variant,,ENST00000370148,;DPCD,upstream_gene_variant,,ENST00000370151,;POLL,upstream_gene_variant,,ENST00000370168,;DPCD,upstream_gene_variant,,ENST00000370147,;POLL,downstream_gene_variant,,ENST00000426919,;POLL,downstream_gene_variant,,ENST00000454524,;DPCD,intron_variant,,ENST00000470165,;POLL,intron_variant,,ENST00000470140,;POLL,intron_variant,,ENST00000485369,;POLL,upstream_gene_variant,,ENST00000463515,;POLL,downstream_gene_variant,,ENST00000461587,;	.	37	32	SUCCESS
SUFU	51684	.	GRCh37	10	104268937	104268937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	75	0	ENST00000369902.3:c.194C>A	p.Pro65Gln	p.P65Q	ENST00000369902	NM_016169.3	65	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS7537.1	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCAGACC	NONE	.	.	hmmpanther:PTHR10928:SF2,hmmpanther:PTHR10928,Pfam_domain:PF05076,PIRSF_domain:PIRSF011844,Superfamily_domains:0040736	.	.	ENSP00000358918	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000369902	Transcript	1	.	ENSG00000107882	16466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.19)	.	SUFU_HUMAN	SUFU	HGNC	.	.	UPI0000073C79	SNV	SUFU,missense_variant,p.Pro65Gln,ENST00000369899,;SUFU,missense_variant,p.Pro65Gln,ENST00000369902,;SUFU,missense_variant,p.Pro65Gln,ENST00000423559,;	360	75	53	SUCCESS
TEX36	387718	.	GRCh37	10	127350498	127350498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	74	0	ENST00000368821.3:c.100G>T	p.Ala34Ser	p.A34S	ENST00000368821	NM_001128202.1	34	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS44493.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAGCACTGG	NONE	.	.	Pfam_domain:PF15115	.	.	ENSP00000357811	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000368821	Transcript	.	.	ENSG00000175018	31653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.7)	.	TEX36_HUMAN	TEX36	HGNC	.	.	UPI00001D808E	SNV	TEX36,missense_variant,p.Ala34Ser,ENST00000532135,;TEX36,missense_variant,p.Ala34Ser,ENST00000368821,;TEX36,missense_variant,p.Ala34Ser,ENST00000526819,;ALDOAP2,downstream_gene_variant,,ENST00000398050,;	255	74	55	SUCCESS
SLC39A12-AS1	100129213	.	GRCh37	10	18292051	18292051	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs747875741	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	69	0	ENST00000439319.1:n.630G>T		p.*210*	ENST00000439319				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44362.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGCGTCTT	NONE	byFrequency	.	.	.	.	ENSP00000366586	.	.	.	.	.	.	.	.	.	.	rs747875741	.	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODIFIER	11/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,intron_variant,,ENST00000377369,;SLC39A12,intron_variant,,ENST00000539911,;SLC39A12,intron_variant,,ENST00000377371,;SLC39A12,intron_variant,,ENST00000377374,;SLC39A12-AS1,non_coding_transcript_exon_variant,,ENST00000445287,;SLC39A12-AS1,non_coding_transcript_exon_variant,,ENST00000439319,;	.	69	47	SUCCESS
PARD3	56288	.	GRCh37	10	34558586	34558586	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1351712813	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	86	0	ENST00000374789.3:c.3427A>G	p.Ser1143Gly	p.S1143G	ENST00000374789	NM_019619.3	1143	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS7178.1	3427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTGTCTA	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484	.	.	ENSP00000363921	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	deleterious(0.01)	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,missense_variant,p.Ser1053Gly,ENST00000545260,;PARD3,missense_variant,p.Ser1127Gly,ENST00000545693,;PARD3,missense_variant,p.Ser1140Gly,ENST00000374788,;PARD3,missense_variant,p.Ser1083Gly,ENST00000374790,;PARD3,missense_variant,p.Ser1031Gly,ENST00000374794,;PARD3,missense_variant,p.Ser1097Gly,ENST00000350537,;PARD3,missense_variant,p.Ser1143Gly,ENST00000374789,;PARD3,missense_variant,p.Ser1106Gly,ENST00000346874,;PARD3,downstream_gene_variant,,ENST00000466092,;	3753	87	72	SUCCESS
CSTF2T	23283	.	GRCh37	10	53458521	53458521	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	46	0	ENST00000331173.4:c.789A>T	p.Pro263=	p.P263=	ENST00000331173	NM_015235.2	263	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7245.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF55	.	.	ENSP00000332444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331173	Transcript	.	.	ENSG00000177613	17086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSTFT_HUMAN	CSTF2T	HGNC	.	.	UPI0000073CA9	SNV	CSTF2T,synonymous_variant,p.%3D,ENST00000331173,;PRKG1,intron_variant,,ENST00000373976,;PRKG1,intron_variant,,ENST00000401604,;PRKG1,intron_variant,,ENST00000373985,;PRKG1,intron_variant,,ENST00000373980,;	835	46	44	SUCCESS
PCDH15	65217	.	GRCh37	10	55582876	55582876	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	61	0	ENST00000320301.6:c.4610C>A	p.Ser1537Ter	p.S1537*	ENST00000320301	NM_033056.3	1537	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS44404.1	4616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGATACT	NONE	.	.	.	.	.	ENSP00000354950	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,stop_gained,p.Ser1468Ter,ENST00000437009,;PCDH15,stop_gained,p.Ser1514Ter,ENST00000395433,;PCDH15,stop_gained,p.Ser1537Ter,ENST00000320301,;PCDH15,stop_gained,p.Ser1497Ter,ENST00000395432,;PCDH15,stop_gained,p.Ser1539Ter,ENST00000361849,;PCDH15,stop_gained,p.Ser1534Ter,ENST00000395430,;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	5011	61	48	SUCCESS
SH2D4B	387694	.	GRCh37	10	82394233	82394233	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	88	0	ENST00000339284.2:c.986-9516C>T		p.*329*	ENST00000339284	NM_207372.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7370.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAACGCTCA	NONE	.	.	.	.	.	ENSP00000345295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339284	Transcript	.	.	ENSG00000178217	31440	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH24B_HUMAN	SH2D4B	HGNC	.	.	UPI00002289C3	SNV	SH2D4B,missense_variant,p.Thr392Met,ENST00000470604,;SH2D4B,intron_variant,,ENST00000339284,;SH2D4B,intron_variant,,ENST00000313455,;SH2D4B,intron_variant,,ENST00000372150,;	.	88	71	SUCCESS
CCSER2	54462	.	GRCh37	10	86131217	86131217	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	68	163	0	ENST00000224756.8:c.409G>T	p.Glu137Ter	p.E137*	ENST00000224756	NM_018999.2	137	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31235.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGAGTTA	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF2	.	.	ENSP00000224756	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000224756	Transcript	.	.	ENSG00000107771	29197	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCSE2_HUMAN	CCSER2	HGNC	B4DFY4_HUMAN	.	UPI00005E1AE0	SNV	CCSER2,stop_gained,p.Glu137Ter,ENST00000359979,;CCSER2,stop_gained,p.Glu137Ter,ENST00000372088,;CCSER2,stop_gained,p.Glu137Ter,ENST00000224756,;	594	163	155	SUCCESS
ZNF518A	9849	.	GRCh37	10	97916530	97916530	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	148	0	ENST00000316045.5:n.571+726C>T		p.*191*	ENST00000316045				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCCTTGT	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	COSM3442215,COSM3442214	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000478086,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	1308	148	79	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103018556	103018556	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	58	0	ENST00000375735.2:c.2758G>A	p.Asp920Asn	p.D920N	ENST00000375735	NM_001080463.1	920	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44717.1	2758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTGATGAT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	.	.	ENSP00000381167	.	19/90	.	.	.	.	.	.	.	.	.	19/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.82)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Asp920Asn,ENST00000398093,;DYNC2H1,missense_variant,p.Asp920Asn,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	2758	58	42	SUCCESS
C11orf88	0	.	GRCh37	11	111405403	111405403	+	intron_variant	Intron	SNP	G	G	C	rs540667333	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	61	0	ENST00000332814.6:c.533+214G>C		p.*178*	ENST00000332814	NM_207430.2			0	.	A:0.0023	.	A:0	.	C	.	protein_coding	YES	CCDS41712.1	.	MUTECT|MUSE	.	AGTTAGTGCAA	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000333845	A:0	.	.	.	.	.	.	.	.	.	rs540667333	.	PASS	ENST00000332814	Transcript	.	A:0.0006	ENSG00000183644	25061	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	CK088_HUMAN	C11orf88	HGNC	E9PN74_HUMAN	.	UPI00001D7746	SNV	C11orf88,3_prime_UTR_variant,,ENST00000529167,;C11orf88,intron_variant,,ENST00000375618,;C11orf88,intron_variant,,ENST00000332814,;C11orf88,intron_variant,,ENST00000529661,;	.	61	43	SUCCESS
PLET1	349633	.	GRCh37	11	112123130	112123130	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1467183506	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	28	0	ENST00000338832.2:c.389C>T	p.Ala130Val	p.A130V	ENST00000338832	NM_001145024.1	130	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	.	389	MUTECT|VARSCANS	.	TGAAAGCTCTG	NONE	.	.	hmmpanther:PTHR22527	.	.	ENSP00000341412	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338832	Transcript	.	.	ENSG00000188771	30053	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.866)	.	tolerated(0.27)	.	PLET1_HUMAN	PLET1	HGNC	.	.	UPI000023753A	SNV	PLET1,missense_variant,p.Ala130Val,ENST00000338832,;PLET1,missense_variant,p.Ala130Val,ENST00000527122,;PLET1,upstream_gene_variant,,ENST00000533819,;AP002884.1,downstream_gene_variant,,ENST00000401135,;PTS,intron_variant,,ENST00000531673,;	660	28	32	SUCCESS
BUD13	84811	.	GRCh37	11	116628662	116628662	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	39	0	ENST00000260210.4:c.1504G>A	p.Ala502Thr	p.A502T	ENST00000260210	NM_032725.3	502	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8374.1	1504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCAAGCC	NONE	.	.	hmmpanther:PTHR31809,Pfam_domain:PF09736	.	.	ENSP00000260210	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000260210	Transcript	.	.	ENSG00000137656	28199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.05)	.	BUD13_HUMAN	BUD13	HGNC	.	.	UPI0000072AE6	SNV	BUD13,missense_variant,p.Ala502Thr,ENST00000260210,;BUD13,missense_variant,p.Ala368Thr,ENST00000375445,;BUD13,splice_region_variant,,ENST00000419189,;	1528	39	30	SUCCESS
OTOG	340990	.	GRCh37	11	17650826	17650826	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	21	40	0	ENST00000399391.2:c.6711C>T	p.Ala2237=	p.A2237=	ENST00000399391	NM_001277269.1	2237	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS59225.1	6711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCAGCAA	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000382323	.	39/55	.	.	.	.	.	.	.	.	.	39/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,synonymous_variant,p.%3D,ENST00000399397,;OTOG,synonymous_variant,p.%3D,ENST00000342528,;OTOG,synonymous_variant,p.%3D,ENST00000399391,;	6711	40	34	SUCCESS
SLC17A6	57084	.	GRCh37	11	22380971	22380971	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	57	0	ENST00000263160.3:c.471T>G	p.Ala157=	p.A157=	ENST00000263160	NM_020346.2	157	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7856.1	471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000263160	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,synonymous_variant,p.%3D,ENST00000263160,;CTD-2140G10.4,downstream_gene_variant,,ENST00000534543,;SLC17A6,non_coding_transcript_exon_variant,,ENST00000534115,;	908	57	45	SUCCESS
OR8J1	219477	.	GRCh37	11	56127868	56127868	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	65	148	0	ENST00000303039.3:c.146C>A	p.Thr49Asn	p.T49N	ENST00000303039	NM_001005205.2	49	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS31529.1	146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCAGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304060	.	1/1	.	.	.	.	.	.	.	.	COSM688572	1/1	PASS	ENST00000303039	Transcript	.	.	ENSG00000172487	14855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.732)	.	deleterious(0)	1	OR8J1_HUMAN	OR8J1	HGNC	.	.	UPI000004BE58	SNV	OR8J1,missense_variant,p.Thr49Asn,ENST00000303039,;RPL5P29,downstream_gene_variant,,ENST00000482972,;	178	148	133	SUCCESS
PRPF19	27339	.	GRCh37	11	60668323	60668323	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	81	0	ENST00000227524.4:c.718+3G>A		p.X240_splice	ENST00000227524	NM_014502.4	240		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7995.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCACCAG	NONE	.	.	.	.	.	ENSP00000227524	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000227524	Transcript	.	.	ENSG00000110107	17896	.	.	LOW	9/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRP19_HUMAN	PRPF19	HGNC	F5H2I0_HUMAN	.	UPI000003F659	SNV	PRPF19,splice_region_variant,,ENST00000541371,;PRPF19,splice_region_variant,,ENST00000227524,;PRPF19,intron_variant,,ENST00000540473,;PRPF19,downstream_gene_variant,,ENST00000546152,;PRPF19,upstream_gene_variant,,ENST00000535326,;PRPF19,upstream_gene_variant,,ENST00000539960,;PRPF19,upstream_gene_variant,,ENST00000539180,;	.	81	47	SUCCESS
HPX	3263	.	GRCh37	11	6453022	6453022	+	synonymous_variant	Silent	SNP	T	T	C	rs377761910	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	43	0	ENST00000265983.3:c.978A>G	p.Val326=	p.V326=	ENST00000265983	NM_000613.2	326	gtA/gtG	0	C:0	.	.	.	.	C	V	protein_coding	YES	CCDS7763.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATATACCTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,SMART_domains:SM00120,Pfam_domain:PF00045,Gene3D:2.110.10.10,PROSITE_profiles:PS51642	.	C:0.0002	ENSP00000265983	.	9/10	.	.	.	.	.	.	.	.	rs377761910	9/10	PASS	ENST00000265983	Transcript	.	.	ENSG00000110169	5171	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEMO_HUMAN	HPX	HGNC	.	.	UPI000012C5AF	SNV	HPX,synonymous_variant,p.%3D,ENST00000265983,;HPX,non_coding_transcript_exon_variant,,ENST00000529037,;HPX,downstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000533561,;HPX,non_coding_transcript_exon_variant,,ENST00000527556,;	1079	43	38	SUCCESS
CABP2	51475	.	GRCh37	11	67290835	67290835	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	58	181	0	ENST00000294288.4:c.-38C>T		p.*13*	ENST00000294288	NM_016366.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGGCCCG	NONE	.	.	.	.	.	ENSP00000294288	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000294288	Transcript	.	.	ENSG00000167791	1385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABP2_HUMAN	CABP2	HGNC	.	.	UPI000013E147	SNV	CABP2,5_prime_UTR_variant,,ENST00000353903,;CABP2,5_prime_UTR_variant,,ENST00000294288,;CABP2,5_prime_UTR_variant,,ENST00000545205,;	33	181	145	SUCCESS
RBMXL2	27288	.	GRCh37	11	7110658	7110658	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1364827695	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	16	0	ENST00000306904.5:c.307G>A	p.Gly103Ser	p.G103S	ENST00000306904	NM_014469.4	103	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7777.1	307	MUTECT|MUSE|VARSCANS	.	GCCGCGGTCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF306,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000304139	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306904	Transcript	.	.	ENSG00000170748	17886	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.862)	.	tolerated(0.48)	.	RMXL2_HUMAN	RBMXL2	HGNC	.	.	UPI000013EBA5	SNV	RBMXL2,missense_variant,p.Gly103Ser,ENST00000306904,;	494	16	17	SUCCESS
OLFML1	283298	.	GRCh37	11	7530924	7530924	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	112	0	ENST00000329293.3:c.714A>C	p.Lys238Asn	p.K238N	ENST00000329293	NM_198474.3	238	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS7779.1	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAATATAA	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF13,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000332511	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329293	Transcript	.	.	ENSG00000183801	24473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OLFL1_HUMAN	OLFML1	HGNC	.	.	UPI0000161991	SNV	OLFML1,missense_variant,p.Lys238Asn,ENST00000530135,;OLFML1,missense_variant,p.Lys238Asn,ENST00000329293,;OLFML1,3_prime_UTR_variant,,ENST00000528758,;PPFIBP2,upstream_gene_variant,,ENST00000528947,;PPFIBP2,upstream_gene_variant,,ENST00000526873,;PPFIBP2,upstream_gene_variant,,ENST00000299492,;CTD-2516F10.2,intron_variant,,ENST00000530201,;	1108	112	76	SUCCESS
AQP11	282679	.	GRCh37	11	77301269	77301269	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	47	0	ENST00000313578.3:c.232A>T	p.Thr78Ser	p.T78S	ENST00000313578	NM_173039.2	78	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS8251.1	232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR02024,Superfamily_domains:SSF81338,PIRSF_domain:PIRSF017529,Pfam_domain:PF00230,Gene3D:1.20.1080.10,hmmpanther:PTHR21191:SF7,hmmpanther:PTHR21191	.	.	ENSP00000318770	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000313578	Transcript	.	.	ENSG00000178301	19940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.17)	.	AQP11_HUMAN	AQP11	HGNC	.	.	UPI000003B106	SNV	AQP11,missense_variant,p.Thr78Ser,ENST00000313578,;AP002789.1,downstream_gene_variant,,ENST00000607263,;AQP11,intron_variant,,ENST00000528638,;CLNS1A,intron_variant,,ENST00000526761,;	590	47	42	SUCCESS
NAALAD2	10003	.	GRCh37	11	89867856	89867856	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	20	0	ENST00000534061.1:c.-71G>C		p.*24*	ENST00000534061	NM_005467.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8288.1	.	RADIA|MUTECT|MUSE	.	AGCGCGCTCTC	NONE	.	.	.	.	.	ENSP00000432481	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000534061	Transcript	.	.	ENSG00000077616	14526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NALD2_HUMAN	NAALAD2	HGNC	E9PJ53_HUMAN,E9PII2_HUMAN	.	UPI0000031A85	SNV	NAALAD2,5_prime_UTR_variant,,ENST00000534061,;NAALAD2,intron_variant,,ENST00000525497,;NAALAD2,upstream_gene_variant,,ENST00000526637,;NAALAD2,upstream_gene_variant,,ENST00000375944,;NAALAD2,upstream_gene_variant,,ENST00000525171,;NAALAD2,upstream_gene_variant,,ENST00000321955,;NAALAD2,5_prime_UTR_variant,,ENST00000527493,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000529090,;NAALAD2,upstream_gene_variant,,ENST00000524501,;	160	20	10	SUCCESS
DEPDC4	120863	.	GRCh37	12	100660786	100660786	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	68	0	ENST00000378244.2:c.69T>A	p.Leu23=	p.L23=	ENST00000378244		23	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9075.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACAAGTCT	NONE	.	.	.	.	.	ENSP00000396234	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000416321	Transcript	.	.	ENSG00000166153	22952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEPD4_HUMAN	DEPDC4	HGNC	H0YIL0_HUMAN	.	UPI0000071E6F	SNV	DEPDC4,synonymous_variant,p.%3D,ENST00000550587,;DEPDC4,synonymous_variant,p.%3D,ENST00000416321,;DEPDC4,synonymous_variant,p.%3D,ENST00000551642,;DEPDC4,synonymous_variant,p.%3D,ENST00000549249,;SCYL2,upstream_gene_variant,,ENST00000360820,;SCYL2,upstream_gene_variant,,ENST00000549687,;DEPDC4,upstream_gene_variant,,ENST00000548313,;SCYL2,upstream_gene_variant,,ENST00000548392,;SCYL2,upstream_gene_variant,,ENST00000550067,;DEPDC4,synonymous_variant,p.%3D,ENST00000299185,;DEPDC4,synonymous_variant,p.%3D,ENST00000549341,;DEPDC4,synonymous_variant,p.%3D,ENST00000378244,;	72	68	51	SUCCESS
CHPT1	56994	.	GRCh37	12	102108302	102108302	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	34	0	ENST00000229266.3:c.442T>G	p.Ser148Ala	p.S148A	ENST00000229266	NM_020244.2	148	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS9086.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTTCAATT	NONE	.	.	hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF32,Pfam_domain:PF01066,PIRSF_domain:PIRSF015665	.	.	ENSP00000229266	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000229266	Transcript	.	.	ENSG00000111666	17852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.03)	.	CHPT1_HUMAN	CHPT1	HGNC	.	.	UPI000003ED2B	SNV	CHPT1,missense_variant,p.Ser148Ala,ENST00000229266,;CHPT1,missense_variant,p.Ser148Ala,ENST00000549872,;CHPT1,non_coding_transcript_exon_variant,,ENST00000550385,;CHPT1,missense_variant,p.Ser114Ala,ENST00000552215,;CHPT1,missense_variant,p.Ser148Ala,ENST00000552351,;CHPT1,missense_variant,p.Ser148Ala,ENST00000549128,;CHPT1,upstream_gene_variant,,ENST00000552329,;CHPT1,downstream_gene_variant,,ENST00000546490,;	677	34	26	SUCCESS
CCDC53	0	.	GRCh37	12	102433674	102433674	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	33	60	0	ENST00000240079.6:c.407A>G	p.Tyr136Cys	p.Y136C	ENST00000240079	NM_016053.2	136	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS44959.1	407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATATCTT	NONE	.	.	hmmpanther:PTHR13015:SF0,hmmpanther:PTHR13015,Pfam_domain:PF10152	.	.	ENSP00000240079	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000240079	Transcript	.	.	ENSG00000120860	24256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CCD53_HUMAN	CCDC53	HGNC	F5H0A7_HUMAN	.	UPI00001254D2	SNV	CCDC53,missense_variant,p.Tyr135Cys,ENST00000545679,;CCDC53,missense_variant,p.Tyr136Cys,ENST00000240079,;CCDC53,intron_variant,,ENST00000542923,;CCDC53,non_coding_transcript_exon_variant,,ENST00000539515,;CCDC53,missense_variant,p.Tyr135Cys,ENST00000544341,;CCDC53,missense_variant,p.Tyr136Cys,ENST00000540536,;CCDC53,3_prime_UTR_variant,,ENST00000535501,;CCDC53,3_prime_UTR_variant,,ENST00000500685,;CCDC53,3_prime_UTR_variant,,ENST00000538761,;CCDC53,non_coding_transcript_exon_variant,,ENST00000541569,;CCDC53,non_coding_transcript_exon_variant,,ENST00000536197,;CCDC53,downstream_gene_variant,,ENST00000326351,;	569	60	57	SUCCESS
UBC	7316	.	GRCh37	12	125397123	125397123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	81	282	0	ENST00000339647.5:c.1195C>T	p.Pro399Ser	p.P399S	ENST00000339647	NM_021009.5	399	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9260.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGGCTCCA	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF94,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000441543	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000536769	Transcript	.	.	ENSG00000150991	12468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	UBC_HUMAN	UBC	HGNC	Q9UFQ0_HUMAN,Q96C32_HUMAN,Q5PY61_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,J3QS39_HUMAN,J3QKN0_HUMAN,F5H747_HUMAN,F5H6Q2_HUMAN,F5H388_HUMAN,F5H2Z3_HUMAN,F5H265_HUMAN,F5H041_HUMAN,F5GZ39_HUMAN,F5GYU3_HUMAN,F5GXK7_HUMAN,A8CGI2_HUMAN	.	UPI000013DC28	SNV	UBC,missense_variant,p.Pro323Ser,ENST00000546120,;UBC,missense_variant,p.Pro399Ser,ENST00000536769,;UBC,missense_variant,p.Pro399Ser,ENST00000339647,;UBC,intron_variant,,ENST00000538617,;UBC,downstream_gene_variant,,ENST00000546271,;UBC,downstream_gene_variant,,ENST00000542416,;UBC,downstream_gene_variant,,ENST00000540700,;UBC,downstream_gene_variant,,ENST00000541645,;UBC,downstream_gene_variant,,ENST00000535131,;UBC,downstream_gene_variant,,ENST00000541272,;UBC,downstream_gene_variant,,ENST00000535859,;UBC,downstream_gene_variant,,ENST00000540351,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,downstream_gene_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,;	2772	282	212	SUCCESS
BCAT1	586	.	GRCh37	12	25002861	25002861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	96	0	ENST00000261192.7:c.533C>A	p.Pro178His	p.P178H	ENST00000261192	NM_005504.6	178	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS53761.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAGGCTTC	NONE	.	.	hmmpanther:PTHR11825:SF29,hmmpanther:PTHR11825,Gene3D:3.30.470.10,Pfam_domain:PF01063,TIGRFAM_domain:TIGR01123,PIRSF_domain:PIRSF006468,Superfamily_domains:SSF56752	.	.	ENSP00000443459	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000539282	Transcript	.	.	ENSG00000060982	976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	BCAT1_HUMAN	BCAT1	HGNC	.	.	UPI0001D27F89	SNV	BCAT1,missense_variant,p.Pro177His,ENST00000538118,;BCAT1,missense_variant,p.Pro141His,ENST00000539780,;BCAT1,missense_variant,p.Pro190His,ENST00000539282,;BCAT1,missense_variant,p.Pro117His,ENST00000342945,;BCAT1,missense_variant,p.Pro178His,ENST00000261192,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;	656	96	75	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43860553	43860553	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	72	0	ENST00000389420.3:c.1269A>G	p.Lys423=	p.K423=	ENST00000389420	NM_025003.3	423	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS31778.2	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACTTTCAT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000374071	.	9/39	.	.	.	.	.	.	.	.	.	9/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;	1269	72	53	SUCCESS
DYRK4	8798	.	GRCh37	12	4722680	4722680	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs545558326	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	55	211	1	ENST00000010132.5:c.1324G>A	p.Asp442Asn	p.D442N	ENST00000010132		442	Gat/Aat	0	.	A:0.0008	.	A:0	.	A	D/N	protein_coding	YES	CCDS8530.1	1324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCAGATGAG	NONE	by1000G	.	hmmpanther:PTHR24058:SF22,hmmpanther:PTHR24058	A:0	.	ENSP00000441755	A:0	13/13	.	.	.	.	.	.	.	.	rs545558326	13/13	PASS	ENST00000540757	Transcript	.	A:0.0002	ENSG00000010219	3095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	A:0	tolerated(0.07)	.	DYRK4_HUMAN	DYRK4	HGNC	D3JEN3_HUMAN,D3JEN2_HUMAN,B4DQW1_HUMAN	.	UPI000006E05C	SNV	DYRK4,splice_acceptor_variant,,ENST00000543431,;DYRK4,missense_variant,p.Asp442Asn,ENST00000540757,;DYRK4,missense_variant,p.Asp79Asn,ENST00000545342,;DYRK4,missense_variant,p.Asp442Asn,ENST00000010132,;AKAP3,downstream_gene_variant,,ENST00000545990,;DYRK4,downstream_gene_variant,,ENST00000544671,;AKAP3,downstream_gene_variant,,ENST00000228850,;DYRK4,downstream_gene_variant,,ENST00000542744,;DYRK4,splice_acceptor_variant,,ENST00000545571,;DYRK4,splice_region_variant,,ENST00000544050,;DYRK4,splice_region_variant,,ENST00000541024,;RP11-500M8.7,intron_variant,,ENST00000536588,;DYRK4,downstream_gene_variant,,ENST00000536137,;	1484	212	163	SUCCESS
KCNA5	3741	.	GRCh37	12	5153761	5153761	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766505655	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	65	0	ENST00000252321.3:c.448G>A	p.Ala150Thr	p.A150T	ENST00000252321	NM_002234.3	150	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8536.1	448	RADIA|VARSCANS	.	ACCCCGCCAAG	NONE	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01496	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	rs766505655	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.55)	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Ala150Thr,ENST00000252321,;	677	65	38	SUCCESS
NFE2	4778	.	GRCh37	12	54686660	54686660	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	142	0	ENST00000312156.4:c.620C>T	p.Pro207Leu	p.P207L	ENST00000312156	NM_006163.2	207	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8876.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGCTCT	NONE	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF30	.	.	ENSP00000439120	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000540264	Transcript	.	.	ENSG00000123405	7780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.27)	.	NFE2_HUMAN	NFE2	HGNC	F8W1N9_HUMAN,A8K3E0_HUMAN	.	UPI000012FFBA	SNV	NFE2,missense_variant,p.Pro207Leu,ENST00000540264,;NFE2,missense_variant,p.Pro207Leu,ENST00000553070,;NFE2,missense_variant,p.Pro207Leu,ENST00000312156,;NFE2,missense_variant,p.Pro207Leu,ENST00000553198,;NFE2,missense_variant,p.Pro207Leu,ENST00000435572,;RP11-968A15.8,intron_variant,,ENST00000553061,;	1130	142	92	SUCCESS
KRT19P2	160313	.	GRCh37	12	95228734	95228734	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	16	0	ENST00000405395.2:n.505G>T		p.*169*	ENST00000405395				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGCATGC	NONE	.	445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000385303	Transcript	.	.	ENSG00000208038	32081	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR492	HGNC	.	.	.	SNV	MIR492,downstream_gene_variant,,ENST00000385303,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000405395,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000557173,;	.	16	15	SUCCESS
COG3	83548	.	GRCh37	13	46083887	46083887	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs551149553	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	187	0	ENST00000349995.5:c.1655G>T	p.Gly552Val	p.G552V	ENST00000349995	NM_031431.3	552	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9398.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGAATGT	NONE	.	.	hmmpanther:PTHR13302	.	.	ENSP00000258654	.	15/23	.	.	.	.	.	.	.	.	rs551149553	15/23	PASS	ENST00000349995	Transcript	.	.	ENSG00000136152	18619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	COG3_HUMAN	COG3	HGNC	.	.	UPI0000366968	SNV	COG3,missense_variant,p.Gly552Val,ENST00000349995,;COG3,non_coding_transcript_exon_variant,,ENST00000465942,;	1767	187	78	SUCCESS
ZC3H13	23091	.	GRCh37	13	46619087	46619087	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	24	85	0	ENST00000242848.4:c.227+3A>T		p.X76_splice	ENST00000242848		76		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9400.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTACCTT	NONE	.	.	.	.	.	ENSP00000282007	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282007	Transcript	.	.	ENSG00000123200	20368	.	.	LOW	3/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZC3HD_HUMAN	ZC3H13	HGNC	.	.	UPI0000366969	SNV	ZC3H13,splice_region_variant,,ENST00000242848,;ZC3H13,splice_region_variant,,ENST00000428921,;ZC3H13,splice_region_variant,,ENST00000282007,;	.	85	28	SUCCESS
BAG5	9529	.	GRCh37	14	104026264	104026264	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs143892215	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	112	0	ENST00000299204.4:c.1238A>G	p.Asp413Gly	p.D413G	ENST00000299204	NM_001015048.2	413	gAt/gGt	0	A:0.0005	.	.	.	.	C	D/G	protein_coding	YES	CCDS41995.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGATCAACA	NONE	byCluster	.	Superfamily_domains:SSF63491,SMART_domains:SM00264,Pfam_domain:PF02179,Gene3D:1.20.58.120,hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF2,PROSITE_profiles:PS51035	.	A:0	ENSP00000338814	.	2/2	.	.	.	.	.	.	.	.	rs143892215	2/2	PASS	ENST00000337322	Transcript	.	.	ENSG00000166170	941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	BAG5_HUMAN	BAG5	HGNC	G3V274_HUMAN	.	UPI00001FDC93	SNV	BAG5,missense_variant,p.Asp413Gly,ENST00000299204,;BAG5,missense_variant,p.Asp454Gly,ENST00000337322,;BAG5,missense_variant,p.Asp413Gly,ENST00000445922,;KLC1,upstream_gene_variant,,ENST00000557172,;APOPT1,upstream_gene_variant,,ENST00000440963,;RP11-73M18.2,upstream_gene_variant,,ENST00000472726,;BAG5,downstream_gene_variant,,ENST00000557666,;APOPT1,upstream_gene_variant,,ENST00000247618,;APOPT1,upstream_gene_variant,,ENST00000409074,;APOPT1,upstream_gene_variant,,ENST00000495778,;APOPT1,upstream_gene_variant,,ENST00000556253,;RP11-894P9.2,intron_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000477116,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000492189,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,upstream_gene_variant,,ENST00000489117,;APOPT1,upstream_gene_variant,,ENST00000554625,;APOPT1,upstream_gene_variant,,ENST00000458117,;	1652	112	91	SUCCESS
NPAS3	64067	.	GRCh37	14	34269611	34269611	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	81	0	ENST00000356141.4:c.2098G>T	p.Gly700Trp	p.G700W	ENST00000356141		700	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS53891.1	2098	MUTECT|MUSE|VARSCANS	.	GCGGTGGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	.	.	ENSP00000348460	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.325)	.	deleterious_low_confidence(0)	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,missense_variant,p.Gly670Trp,ENST00000548645,;NPAS3,missense_variant,p.Gly705Trp,ENST00000551492,;NPAS3,missense_variant,p.Gly674Trp,ENST00000551634,;NPAS3,missense_variant,p.Gly668Trp,ENST00000346562,;NPAS3,missense_variant,p.Gly687Trp,ENST00000357798,;NPAS3,missense_variant,p.Gly700Trp,ENST00000356141,;	2098	81	69	SUCCESS
KCNK10	54207	.	GRCh37	14	88707142	88707142	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750667713	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	43	0	ENST00000340700.5:c.410C>T	p.Ala137Val	p.A137V	ENST00000340700	NM_021161.4	137	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9881.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGCATTG	NONE	byFrequency	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32	.	.	ENSP00000312811	.	3/7	.	.	.	.	.	.	.	.	rs750667713	3/7	PASS	ENST00000319231	Transcript	.	.	ENSG00000100433	6273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.754)	.	tolerated(0.07)	.	KCNKA_HUMAN	KCNK10	HGNC	.	.	UPI000002A697	SNV	KCNK10,missense_variant,p.Ala125Val,ENST00000556282,;KCNK10,missense_variant,p.Ala142Val,ENST00000312350,;KCNK10,missense_variant,p.Ala142Val,ENST00000319231,;KCNK10,missense_variant,p.Ala137Val,ENST00000340700,;	876	43	25	SUCCESS
CATSPERB	79820	.	GRCh37	14	92058310	92058310	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	105	0	ENST00000256343.3:c.2746A>G	p.Thr916Ala	p.T916A	ENST00000256343	NM_024764.2	916	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32142.1	2746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGTGGAAA	NONE	.	.	hmmpanther:PTHR14705,Pfam_domain:PF15149	.	.	ENSP00000256343	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000256343	Transcript	.	.	ENSG00000133962	20500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0.03)	.	CTSRB_HUMAN	CATSPERB	HGNC	G3V584_HUMAN,G3V352_HUMAN	.	UPI0000418DA1	SNV	CATSPERB,missense_variant,p.Thr916Ala,ENST00000256343,;CATSPERB,3_prime_UTR_variant,,ENST00000557036,;CATSPERB,non_coding_transcript_exon_variant,,ENST00000556429,;	2903	106	81	SUCCESS
BTBD7	55727	.	GRCh37	14	93720042	93720042	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1425545856	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	57	0	ENST00000334746.5:c.1703G>A	p.Gly568Asp	p.G568D	ENST00000334746	NM_001002860.2	568	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32146.1	1703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCCAGCA	NONE	.	.	hmmpanther:PTHR16064	.	.	ENSP00000335615	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000334746	Transcript	.	.	ENSG00000011114	18269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	BTBD7_HUMAN	BTBD7	HGNC	G3V2J4_HUMAN	.	UPI00001FDA78	SNV	BTBD7,missense_variant,p.Gly142Asp,ENST00000393170,;BTBD7,missense_variant,p.Gly183Asp,ENST00000553975,;BTBD7,missense_variant,p.Gly568Asp,ENST00000334746,;BTBD7,missense_variant,p.Gly217Asp,ENST00000554565,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;BTBD7,downstream_gene_variant,,ENST00000554644,;	2011	57	54	SUCCESS
RYR3	6263	.	GRCh37	15	34109089	34109089	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752657728	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	101	1	ENST00000389232.4:c.10529A>T	p.His3510Leu	p.H3510L	ENST00000389232	NM_001036.3	3510	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS45210.1	10529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCATGGCT	NONE	byFrequency	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	75/104	.	.	.	.	.	.	.	.	rs752657728	75/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.His3510Leu,ENST00000389232,;RYR3,missense_variant,p.His3505Leu,ENST00000415757,;RYR3,upstream_gene_variant,,ENST00000558060,;RYR3,upstream_gene_variant,,ENST00000557931,;	10599	102	87	SUCCESS
RASGRP1	10125	.	GRCh37	15	38794569	38794569	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	39	83	0	ENST00000310803.5:c.1482A>C	p.Glu494Asp	p.E494D	ENST00000310803	NM_005739.3	494	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS45222.1	1482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAATTCTTC	NONE	.	.	PROSITE_profiles:PS50222,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13405,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000310244	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000310803	Transcript	1	.	ENSG00000172575	9878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	tolerated(0.79)	.	GRP1_HUMAN	RASGRP1	HGNC	H0YNG8_HUMAN,H0YN83_HUMAN,H0YKP8_HUMAN,F5H514_HUMAN	.	UPI000006FE1C	SNV	RASGRP1,missense_variant,p.Glu459Asp,ENST00000450598,;RASGRP1,missense_variant,p.Glu508Asp,ENST00000558432,;RASGRP1,missense_variant,p.Glu494Asp,ENST00000310803,;RASGRP1,missense_variant,p.Glu545Asp,ENST00000561180,;RASGRP1,missense_variant,p.Glu459Asp,ENST00000558164,;RASGRP1,missense_variant,p.Glu446Asp,ENST00000539159,;RASGRP1,missense_variant,p.Glu459Asp,ENST00000559830,;RP11-102L12.2,upstream_gene_variant,,ENST00000560231,;RASGRP1,missense_variant,p.Glu171Asp,ENST00000560425,;RASGRP1,missense_variant,p.Glu459Asp,ENST00000414708,;RASGRP1,upstream_gene_variant,,ENST00000557875,;	1660	83	72	SUCCESS
VPS13C	54832	.	GRCh37	15	62201321	62201321	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1390685383	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	64	0	ENST00000261517.5:c.8848G>A	p.Gly2950Arg	p.G2950R	ENST00000261517	NM_020821.2	2950	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS32257.1	8848	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCATTCT	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166,Pfam_domain:PF06650	.	.	ENSP00000261517	.	65/85	.	.	.	.	.	.	.	.	.	65/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Gly2950Arg,ENST00000261517,;VPS13C,missense_variant,p.Gly2950Arg,ENST00000395896,;VPS13C,missense_variant,p.Gly2907Arg,ENST00000249837,;VPS13C,missense_variant,p.Gly2907Arg,ENST00000395898,;VPS13C,non_coding_transcript_exon_variant,,ENST00000558338,;	8922	64	70	SUCCESS
ITGA11	22801	.	GRCh37	15	68657110	68657110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1287408712	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	109	0	ENST00000315757.7:c.292G>A	p.Glu98Lys	p.E98K	ENST00000315757	NM_001004439.1	98	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS45291.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTCGGACA	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF21,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000327290	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000315757	Transcript	.	.	ENSG00000137809	6136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	tolerated(0.19)	.	ITA11_HUMAN	ITGA11	HGNC	.	.	UPI00001FE74D	SNV	ITGA11,missense_variant,p.Glu98Lys,ENST00000315757,;ITGA11,missense_variant,p.Glu98Lys,ENST00000423218,;ITGA11,non_coding_transcript_exon_variant,,ENST00000562826,;ITGA11,upstream_gene_variant,,ENST00000568677,;ITGA11,upstream_gene_variant,,ENST00000565868,;	379	109	116	SUCCESS
EMP2	2013	.	GRCh37	16	10631874	10631874	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	71	1	ENST00000359543.3:c.227G>T	p.Cys76Phe	p.C76F	ENST00000359543	NM_001424.4	76	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS10541.1	227	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCAGCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10671:SF32,hmmpanther:PTHR10671,PROSITE_patterns:PS01222,Pfam_domain:PF00822	.	.	ENSP00000352540	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000359543	Transcript	.	.	ENSG00000213853	3334	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	tolerated(0.09)	.	EMP2_HUMAN	EMP2	HGNC	.	.	UPI0000129EAA	SNV	EMP2,missense_variant,p.Cys76Phe,ENST00000359543,;EMP2,missense_variant,p.Cys76Phe,ENST00000536829,;	437	72	59	SUCCESS
RBBP6	5930	.	GRCh37	16	24579152	24579152	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	14	226	0	ENST00000319715.4:c.1992T>G	p.Asp664Glu	p.D664E	ENST00000319715	NM_006910.4	664	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS10621.1	1992	MUTECT|MUSE|VARSCANS	.	AATGATTTTGC	NONE	.	.	hmmpanther:PTHR15439:SF1,hmmpanther:PTHR15439	.	.	ENSP00000317872	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000319715	Transcript	.	.	ENSG00000122257	9889	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.846)	.	deleterious_low_confidence(0)	.	RBBP6_HUMAN	RBBP6	HGNC	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN	.	UPI00001A96B8	SNV	RBBP6,missense_variant,p.Asp664Glu,ENST00000319715,;RBBP6,missense_variant,p.Asp531Glu,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,intron_variant,,ENST00000348022,;RBBP6,intron_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	2424	226	161	SUCCESS
CCNF	899	.	GRCh37	16	2499459	2499459	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	12	0	ENST00000397066.4:c.1395G>T	p.Gly465=	p.G465=	ENST00000397066	NM_001761.2	465	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10467.1	1395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGGCAGAG	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF183,Pfam_domain:PF02984,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000380256	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000397066	Transcript	.	.	ENSG00000162063	1591	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNF_HUMAN	CCNF	HGNC	.	.	UPI0000127595	SNV	CCNF,synonymous_variant,p.%3D,ENST00000397066,;RP11-715J22.3,downstream_gene_variant,,ENST00000561653,;CCNF,3_prime_UTR_variant,,ENST00000564236,;CCNF,3_prime_UTR_variant,,ENST00000293968,;	1483	12	13	SUCCESS
DNAJA2	10294	.	GRCh37	16	47005262	47005262	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	152	93	0	ENST00000317089.5:c.361A>C	p.Lys121Gln	p.K121Q	ENST00000317089	NM_005880.3	121	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS10726.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTTGAGTG	NONE	.	.	HAMAP:MF_01152,hmmpanther:PTHR24076:SF1,hmmpanther:PTHR24076,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	.	.	ENSP00000314030	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000317089	Transcript	.	.	ENSG00000069345	14884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.13)	.	DNJA2_HUMAN	DNAJA2	HGNC	H3BMW5_HUMAN	.	UPI0000052A4E	SNV	DNAJA2,missense_variant,p.Lys121Gln,ENST00000317089,;DNAJA2,missense_variant,p.Lys38Gln,ENST00000566791,;RP11-169E6.1,upstream_gene_variant,,ENST00000562536,;DNAJA2,splice_region_variant,,ENST00000563158,;	577	93	217	SUCCESS
MAPK7	5598	.	GRCh37	17	19285377	19285377	+	synonymous_variant	Silent	SNP	G	G	T	rs1332144657	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	46	101	1	ENST00000308406.5:c.1761G>T	p.Pro587=	p.P587=	ENST00000308406	NM_139033.2	587	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11206.1	1761	RADIA|SOMATICSNIPER|VARSCANS	.	GTGCCGGCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000311005	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,synonymous_variant,p.%3D,ENST00000395602,;MAPK7,synonymous_variant,p.%3D,ENST00000395604,;MAPK7,synonymous_variant,p.%3D,ENST00000308406,;MAPK7,synonymous_variant,p.%3D,ENST00000299612,;MFAP4,downstream_gene_variant,,ENST00000395592,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,non_coding_transcript_exon_variant,,ENST00000573417,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000572716,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572853,;	2147	102	58	SUCCESS
ASIC2	40	.	GRCh37	17	32483591	32483591	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs553450722	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	45	0	ENST00000359872.6:c.-40G>A		p.*14*	ENST00000359872	NM_001094.4			0	.	G:0.0008	.	G:0	.	T	.	protein_coding	.	CCDS42296.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCGAATT	NONE	by1000G	.	.	G:0	.	ENSP00000352934	G:0	1/10	.	.	.	.	.	.	.	.	rs553450722	1/10	PASS	ENST00000359872	Transcript	.	G:0.0002	ENSG00000108684	99	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	ASIC2_HUMAN	ASIC2	HGNC	.	.	UPI00000441F0	SNV	ASIC2,5_prime_UTR_variant,,ENST00000359872,;ASIC2,downstream_gene_variant,,ENST00000583395,;	723	45	31	SUCCESS
ARHGAP23	57636	.	GRCh37	17	36619596	36619596	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	70	0	ENST00000431231.2:c.456G>A	p.Met152Ile	p.M152I	ENST00000431231	NM_001199417.1	152	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS56027.1	456	RADIA|MUTECT|VARSCANS	.	ATCATGCCCAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000393539	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000431231	Transcript	.	.	ENSG00000225485	29293	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	RHG23_HUMAN	ARHGAP23	HGNC	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN	.	UPI0000F3BE51	SNV	ARHGAP23,missense_variant,p.Met152Ile,ENST00000431231,;ARHGAP23,missense_variant,p.Met58Ile,ENST00000443378,;ARHGAP23,missense_variant,p.Met58Ile,ENST00000549246,;ARHGAP23,missense_variant,p.Met152Ile,ENST00000437668,;	524	70	30	SUCCESS
CACNB1	782	.	GRCh37	17	37347830	37347830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	59	0	ENST00000394303.3:c.188A>G	p.Tyr63Cys	p.Y63C	ENST00000394303	NM_000723.4	63	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS42311.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTAGGAC	NONE	.	.	Pfam_domain:PF12052,hmmpanther:PTHR11824:SF6,hmmpanther:PTHR11824	.	.	ENSP00000377840	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000394303	Transcript	.	.	ENSG00000067191	1401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CACB1_HUMAN	CACNB1	HGNC	.	.	UPI0000127290	SNV	CACNB1,missense_variant,p.Tyr63Cys,ENST00000344140,;CACNB1,missense_variant,p.Tyr63Cys,ENST00000394303,;CACNB1,missense_variant,p.Tyr63Cys,ENST00000394310,;CACNB1,non_coding_transcript_exon_variant,,ENST00000582877,;CACNB1,non_coding_transcript_exon_variant,,ENST00000492737,;CACNB1,downstream_gene_variant,,ENST00000577926,;CACNB1,upstream_gene_variant,,ENST00000577582,;CACNB1,non_coding_transcript_exon_variant,,ENST00000536613,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000582414,;	396	59	43	SUCCESS
MAP3K14	9020	.	GRCh37	17	43366633	43366633	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	rs768000548	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	69	107	0	ENST00000344686.2:n.404C>G		p.*135*	ENST00000344686				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCGTTCTG	NONE	.	.	.	.	.	.	.	3/17	.	.	.	.	.	.	.	.	rs768000548	3/17	PASS	ENST00000344686	Transcript	.	.	ENSG00000006062	6853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MAP3K14	HGNC	.	.	.	SNV	MAP3K14,non_coding_transcript_exon_variant,,ENST00000344686,;MAP3K14,non_coding_transcript_exon_variant,,ENST00000587332,;MAP3K14,upstream_gene_variant,,ENST00000376926,;	404	107	122	SUCCESS
CD68	968	.	GRCh37	17	7483022	7483022	+	synonymous_variant	Silent	SNP	G	G	C	rs923135296	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	46	0	ENST00000250092.6:c.27G>C	p.Gly9=	p.G9=	ENST00000250092	NM_001251.2	9	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11114.1	27	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGGGCCCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11506:SF2,hmmpanther:PTHR11506	.	.	ENSP00000250092	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000250092	Transcript	.	.	ENSG00000129226	1693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD68_HUMAN	CD68	HGNC	B4DNT7_HUMAN	.	UPI000013CCA1	SNV	CD68,synonymous_variant,p.%3D,ENST00000250092,;CD68,synonymous_variant,p.%3D,ENST00000584502,;CD68,synonymous_variant,p.%3D,ENST00000380498,;EIF4A1,downstream_gene_variant,,ENST00000584784,;EIF4A1,downstream_gene_variant,,ENST00000583802,;CD68,upstream_gene_variant,,ENST00000584180,;MPDU1,upstream_gene_variant,,ENST00000396501,;EIF4A1,downstream_gene_variant,,ENST00000380512,;EIF4A1,downstream_gene_variant,,ENST00000577929,;MPDU1,upstream_gene_variant,,ENST00000250124,;EIF4A1,downstream_gene_variant,,ENST00000584860,;MPDU1,upstream_gene_variant,,ENST00000579445,;EIF4A1,downstream_gene_variant,,ENST00000582169,;EIF4A1,downstream_gene_variant,,ENST00000578495,;EIF4A1,downstream_gene_variant,,ENST00000578754,;EIF4A1,downstream_gene_variant,,ENST00000293831,;EIF4A1,downstream_gene_variant,,ENST00000581770,;MPDU1,upstream_gene_variant,,ENST00000581380,;MPDU1,upstream_gene_variant,,ENST00000582151,;MPDU1,upstream_gene_variant,,ENST00000584378,;MPDU1,upstream_gene_variant,,ENST00000585217,;EIF4A1,downstream_gene_variant,,ENST00000581384,;EIF4A1,downstream_gene_variant,,ENST00000585024,;MPDU1,upstream_gene_variant,,ENST00000423172,;EIF4A1,downstream_gene_variant,,ENST00000582746,;EIF4A1,downstream_gene_variant,,ENST00000577269,;EIF4A1,downstream_gene_variant,,ENST00000583389,;SNORD10,downstream_gene_variant,,ENST00000459579,;SNORA48,downstream_gene_variant,,ENST00000386847,;SNORA67,downstream_gene_variant,,ENST00000384423,;AC113189.5,downstream_gene_variant,,ENST00000417897,;AC113189.5,downstream_gene_variant,,ENST00000572046,;AC113189.5,downstream_gene_variant,,ENST00000415124,;AC113189.5,downstream_gene_variant,,ENST00000573187,;SNORA67,non_coding_transcript_exon_variant,,ENST00000581621,;SENP3-EIF4A1,downstream_gene_variant,,ENST00000579777,;EIF4A1,downstream_gene_variant,,ENST00000581808,;EIF4A1,downstream_gene_variant,,ENST00000577738,;EIF4A1,downstream_gene_variant,,ENST00000582213,;MPDU1,upstream_gene_variant,,ENST00000575256,;MPDU1,upstream_gene_variant,,ENST00000580834,;EIF4A1,downstream_gene_variant,,ENST00000577731,;EIF4A1,downstream_gene_variant,,ENST00000580461,;EIF4A1,downstream_gene_variant,,ENST00000578324,;EIF4A1,downstream_gene_variant,,ENST00000581841,;MPDU1,upstream_gene_variant,,ENST00000585188,;EIF4A1,downstream_gene_variant,,ENST00000584901,;EIF4A1,downstream_gene_variant,,ENST00000581544,;MPDU1,upstream_gene_variant,,ENST00000574558,;MPDU1,upstream_gene_variant,,ENST00000572836,;MPDU1,upstream_gene_variant,,ENST00000571391,;EIF4A1,downstream_gene_variant,,ENST00000583899,;MPDU1,upstream_gene_variant,,ENST00000570458,;EIF4A1,downstream_gene_variant,,ENST00000584798,;MPDU1,upstream_gene_variant,,ENST00000571822,;MPDU1,upstream_gene_variant,,ENST00000576066,;EIF4A1,downstream_gene_variant,,ENST00000580888,;MPDU1,upstream_gene_variant,,ENST00000584479,;EIF4A1,downstream_gene_variant,,ENST00000578476,;EIF4A1,downstream_gene_variant,,ENST00000583217,;MPDU1,upstream_gene_variant,,ENST00000577088,;EIF4A1,downstream_gene_variant,,ENST00000580886,;EIF4A1,downstream_gene_variant,,ENST00000582848,;MPDU1,upstream_gene_variant,,ENST00000576272,;EIF4A1,downstream_gene_variant,,ENST00000584054,;MPDU1,upstream_gene_variant,,ENST00000572719,;EIF4A1,downstream_gene_variant,,ENST00000584712,;MPDU1,upstream_gene_variant,,ENST00000580708,;MPDU1,upstream_gene_variant,,ENST00000581886,;EIF4A1,downstream_gene_variant,,ENST00000396527,;EIF4A1,downstream_gene_variant,,ENST00000579085,;EIF4A1,downstream_gene_variant,,ENST00000578569,;MPDU1,upstream_gene_variant,,ENST00000359822,;EIF4A1,downstream_gene_variant,,ENST00000579139,;MPDU1,upstream_gene_variant,,ENST00000578267,;EIF4A1,downstream_gene_variant,,ENST00000582050,;MPDU1,upstream_gene_variant,,ENST00000572936,;	238	46	20	SUCCESS
DNAH17	8632	.	GRCh37	17	76499109	76499109	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	39	0	ENST00000389840.5:c.4945-16T>C		p.*1649*	ENST00000389840				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCACGGTG	NONE	.	.	.	.	.	ENSP00000472049	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000598378	Transcript	.	.	ENSG00000268470	48594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DNAH17-AS1	HGNC	M0R1Q4_HUMAN	.	UPI0000D623A2	SNV	DNAH17-AS1,3_prime_UTR_variant,,ENST00000598378,;DNAH17,intron_variant,,ENST00000585328,;DNAH17,intron_variant,,ENST00000389840,;RP11-559N14.5,downstream_gene_variant,,ENST00000591373,;DNAH17,intron_variant,,ENST00000587177,;	4199	39	68	SUCCESS
MIR122	406906	.	GRCh37	18	56118316	56118316	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	45	0	ENST00000385044.1:n.11G>A		p.*4*	ENST00000385044				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGCTGTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385044	Transcript	.	.	ENSG00000207778	31501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR122	HGNC	.	.	.	SNV	MIR122,non_coding_transcript_exon_variant,,ENST00000385044,;RP11-1151B14.3,downstream_gene_variant,,ENST00000590797,;	11	45	45	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60242216	60242216	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	54	0	ENST00000269499.5:c.2902C>G	p.Pro968Ala	p.P968A	ENST00000269499	NM_017742.4	968	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS45880.1	2902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	.	.	ENSP00000269499	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,missense_variant,p.Pro647Ala,ENST00000586834,;ZCCHC2,missense_variant,p.Pro968Ala,ENST00000269499,;ZCCHC2,intron_variant,,ENST00000587612,;ZCCHC2,missense_variant,p.Pro888Ala,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;ZCCHC2,upstream_gene_variant,,ENST00000591145,;	3320	54	49	SUCCESS
CDH7	1005	.	GRCh37	18	63511191	63511191	+	synonymous_variant	Silent	SNP	T	T	A	rs139333396	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	44	172	0	ENST00000323011.3:c.1125T>A	p.Pro375=	p.P375=	ENST00000323011	NM_033646.1	375	ccT/ccA	0	C:0.0005	C:0	.	C:0	.	A	P	protein_coding	YES	CCDS11993.1	1125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTGTGTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	C:0	C:0.0007	ENSP00000381058	C:0.005	7/12	.	.	.	.	.	.	.	.	rs139333396	7/12	PASS	ENST00000397968	Transcript	.	C:0.0010	ENSG00000081138	1766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,synonymous_variant,p.%3D,ENST00000397968,;CDH7,synonymous_variant,p.%3D,ENST00000536984,;CDH7,synonymous_variant,p.%3D,ENST00000323011,;	1551	172	125	SUCCESS
CALR	811	.	GRCh37	19	13054713	13054713	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	161	0	ENST00000316448.5:c.1240A>G	p.Lys414Glu	p.K414E	ENST00000316448	NM_004343.3	414	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12288.1	1240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCAAGGAC	NONE	.	.	hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF8,PIRSF_domain:PIRSF002356	.	.	ENSP00000320866	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000316448	Transcript	1	.	ENSG00000179218	1455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(1)	.	CALR_HUMAN	CALR	HGNC	B4E2Y9_HUMAN	.	UPI000004CEC9	SNV	CALR,missense_variant,p.Lys414Glu,ENST00000316448,;CALR,intron_variant,,ENST00000586760,;RAD23A,upstream_gene_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000588454,;RAD23A,upstream_gene_variant,,ENST00000316856,;RAD23A,upstream_gene_variant,,ENST00000592268,;RAD23A,upstream_gene_variant,,ENST00000586534,;CTC-425F1.4,downstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;CALR,missense_variant,p.Lys10Glu,ENST00000586967,;CALR,non_coding_transcript_exon_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000590325,;RAD23A,upstream_gene_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000587486,;RAD23A,upstream_gene_variant,,ENST00000591499,;RAD23A,upstream_gene_variant,,ENST00000593114,;RAD23A,upstream_gene_variant,,ENST00000586375,;	1313	161	93	SUCCESS
RAD23A	5886	.	GRCh37	19	13056746	13056746	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	44	0	ENST00000586534.1:c.-17G>T		p.*6*	ENST00000586534				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12289.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGTCGCT	NONE	.	.	.	.	.	ENSP00000467024	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000586534	Transcript	.	.	ENSG00000179262	9812	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RD23A_HUMAN	RAD23A	HGNC	K7ENJ0_HUMAN,B4DDJ7_HUMAN	.	UPI000000D7F7	SNV	RAD23A,5_prime_UTR_variant,,ENST00000541222,;RAD23A,5_prime_UTR_variant,,ENST00000316856,;RAD23A,5_prime_UTR_variant,,ENST00000592268,;RAD23A,5_prime_UTR_variant,,ENST00000586534,;CALR,downstream_gene_variant,,ENST00000316448,;RAD23A,upstream_gene_variant,,ENST00000590881,;CALR,downstream_gene_variant,,ENST00000586760,;CTC-425F1.4,upstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;RAD23A,5_prime_UTR_variant,,ENST00000593114,;RAD23A,5_prime_UTR_variant,,ENST00000591499,;RAD23A,non_coding_transcript_exon_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000586967,;RAD23A,upstream_gene_variant,,ENST00000586375,;	45	44	23	SUCCESS
STX10	8677	.	GRCh37	19	13259885	13259886	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	125	0	ENST00000587230.1:c.320dup	p.Ser108GlnfsTer12	p.S108Qfs*12	ENST00000587230	NM_001271609.1	107	gtc/gtTc	0	.	.	.	.	.	A	V/VX	protein_coding	YES	CCDS32922.1	320-321	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCTGACCAT	NONE	.	.	hmmpanther:PTHR12380:SF45,hmmpanther:PTHR12380,Gene3D:1.20.58.90	.	.	ENSP00000466298	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000587230	Transcript	.	.	ENSG00000104915	11428	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STX10_HUMAN	STX10	HGNC	K7EPP9_HUMAN,K7EJ05_HUMAN	.	UPI000013616B	insertion	STX10,frameshift_variant,p.Ser93GlnfsTer12,ENST00000587318,;STX10,frameshift_variant,p.Ser108GlnfsTer12,ENST00000587230,;STX10,frameshift_variant,p.Ser14GlnfsTer12,ENST00000588848,;STX10,frameshift_variant,p.Ser77GlnfsTer12,ENST00000593126,;STX10,frameshift_variant,p.Ser108GlnfsTer12,ENST00000589083,;STX10,frameshift_variant,p.Ser108GlnfsTer12,ENST00000242770,;STX10,frameshift_variant,p.Ser14GlnfsTer12,ENST00000591197,;STX10,intron_variant,,ENST00000343587,;IER2,upstream_gene_variant,,ENST00000587885,;IER2,upstream_gene_variant,,ENST00000588173,;IER2,upstream_gene_variant,,ENST00000292433,;STX10,upstream_gene_variant,,ENST00000591415,;CTC-250I14.6,downstream_gene_variant,,ENST00000592882,;CTC-250I14.6,downstream_gene_variant,,ENST00000586483,;STX10,3_prime_UTR_variant,,ENST00000440593,;STX10,intron_variant,,ENST00000591843,;	385-386	125	80	SUCCESS
NWD1	284434	.	GRCh37	19	16890277	16890277	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	20	0	ENST00000552788.1:c.2731+1G>C		p.X911_splice	ENST00000552788		911		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32945.2	.	RADIA|MUTECT|MUSE	.	CACAGGTGAGA	NONE	.	.	.	.	.	ENSP00000428579	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000524140	Transcript	.	.	ENSG00000188039	27619	.	.	HIGH	12/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NWD1_HUMAN	NWD1	HGNC	.	.	UPI0000D6173E	SNV	NWD1,splice_donor_variant,,ENST00000339803,;NWD1,splice_donor_variant,,ENST00000524140,;NWD1,splice_donor_variant,,ENST00000552788,;NWD1,splice_donor_variant,,ENST00000379808,;NWD1,splice_donor_variant,,ENST00000549814,;NWD1,splice_donor_variant,,ENST00000523826,;NWD1,splice_donor_variant,,ENST00000438489,;NWD1,splice_donor_variant,,ENST00000518676,;	.	20	11	SUCCESS
GPATCH1	55094	.	GRCh37	19	33572019	33572019	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	25	0	ENST00000170564.2:c.-81G>A		p.*27*	ENST00000170564	NM_018025.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12428.1	.	MUTECT|MUSE	.	TCACCGGGGTT	NONE	.	.	.	.	.	ENSP00000170564	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000170564	Transcript	.	.	ENSG00000076650	24658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPTC1_HUMAN	GPATCH1	HGNC	.	.	UPI000004EC71	SNV	GPATCH1,5_prime_UTR_variant,,ENST00000170564,;GPATCH1,5_prime_UTR_variant,,ENST00000592165,;	234	25	9	SUCCESS
RASGRP4	115727	.	GRCh37	19	38907809	38907809	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	55	0	ENST00000587738.1:c.838-1G>T		p.X280_splice	ENST00000587738		280		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46068.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCTAGGA	NONE	.	.	.	.	.	ENSP00000465772	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	HIGH	7/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,splice_acceptor_variant,,ENST00000454404,;RASGRP4,splice_acceptor_variant,,ENST00000586305,;RASGRP4,splice_acceptor_variant,,ENST00000587738,;RASGRP4,splice_acceptor_variant,,ENST00000587753,;RASGRP4,splice_acceptor_variant,,ENST00000433821,;RASGRP4,intron_variant,,ENST00000426920,;RASGRP4,intron_variant,,ENST00000293062,;RASGRP4,splice_acceptor_variant,,ENST00000589474,;RASGRP4,splice_acceptor_variant,,ENST00000589358,;RASGRP4,splice_acceptor_variant,,ENST00000592322,;RASGRP4,splice_acceptor_variant,,ENST00000589100,;RASGRP4,splice_region_variant,,ENST00000588404,;RASGRP4,upstream_gene_variant,,ENST00000588708,;	.	55	15	SUCCESS
MYPOP	339344	.	GRCh37	19	46404577	46404577	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	38	0	ENST00000322217.5:c.455A>T	p.Gln152Leu	p.Q152L	ENST00000322217	NM_001012643.2	152	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33055.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCTGAGGG	NONE	.	.	hmmpanther:PTHR32345:SF2,hmmpanther:PTHR32345	.	.	ENSP00000325402	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000322217	Transcript	.	.	ENSG00000176182	20178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.01)	.	MYPOP_HUMAN	MYPOP	HGNC	.	.	UPI00001984F8	SNV	MYPOP,missense_variant,p.Gln152Leu,ENST00000322217,;	542	38	26	SUCCESS
NOVA2	4858	.	GRCh37	19	46457041	46457041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	126	0	ENST00000263257.5:c.393G>T	p.Lys131Asn	p.K131N	ENST00000263257	NM_002516.2	131	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS12679.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCTTGGC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF141,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000263257	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000263257	Transcript	.	.	ENSG00000104967	7887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	NOVA2_HUMAN	NOVA2	HGNC	Q9HDB7_HUMAN,M0R1A0_HUMAN	.	UPI000006EBE8	SNV	NOVA2,missense_variant,p.Lys22Asn,ENST00000596784,;NOVA2,missense_variant,p.Lys131Asn,ENST00000263257,;	588	126	58	SUCCESS
CARD8	22900	.	GRCh37	19	48734194	48734194	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	60	124	0	ENST00000391898.3:c.612G>A	p.Glu204=	p.E204=	ENST00000391898	NM_001184900.1	204	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS54289.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCTCATC	NONE	.	.	Pfam_domain:PF13553	.	.	ENSP00000375767	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000391898	Transcript	.	.	ENSG00000105483	17057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CARD8_HUMAN	CARD8	HGNC	E5RGG3_HUMAN,E5RFV9_HUMAN	.	UPI000022A913	SNV	CARD8,synonymous_variant,p.%3D,ENST00000519940,;CARD8,synonymous_variant,p.%3D,ENST00000520015,;CARD8,synonymous_variant,p.%3D,ENST00000359009,;CARD8,synonymous_variant,p.%3D,ENST00000391898,;CARD8,synonymous_variant,p.%3D,ENST00000447740,;CARD8,synonymous_variant,p.%3D,ENST00000520153,;CARD8,synonymous_variant,p.%3D,ENST00000520753,;CARD8,synonymous_variant,p.%3D,ENST00000521613,;CARD8,5_prime_UTR_variant,,ENST00000357778,;ZNF114,intron_variant,,ENST00000597695,;CARD8,downstream_gene_variant,,ENST00000522889,;CARD8,downstream_gene_variant,,ENST00000523750,;CARD8,downstream_gene_variant,,ENST00000522068,;CARD8,downstream_gene_variant,,ENST00000517778,;CARD8,3_prime_UTR_variant,,ENST00000518979,;CARD8,3_prime_UTR_variant,,ENST00000517510,;CARD8,3_prime_UTR_variant,,ENST00000518622,;CARD8,3_prime_UTR_variant,,ENST00000519646,;CARD8,3_prime_UTR_variant,,ENST00000522773,;CARD8,3_prime_UTR_variant,,ENST00000521415,;CARD8,non_coding_transcript_exon_variant,,ENST00000377461,;CARD8,non_coding_transcript_exon_variant,,ENST00000522051,;CARD8,intron_variant,,ENST00000519302,;CARD8,downstream_gene_variant,,ENST00000518596,;CARD8,upstream_gene_variant,,ENST00000523668,;CARD8,downstream_gene_variant,,ENST00000521092,;CARD8,upstream_gene_variant,,ENST00000523579,;	655	124	88	SUCCESS
BSG	682	.	GRCh37	19	579633	579633	+	synonymous_variant	Silent	SNP	G	G	A	rs1005985982	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	40	0	ENST00000333511.3:c.549G>A	p.Leu183=	p.L183=	ENST00000333511	NM_001728.3	183	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12033.1	549	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCGCTGCCCGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF12,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000333769	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000333511	Transcript	1	.	ENSG00000172270	1116	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BASI_HUMAN	BSG	HGNC	R4GN83_HUMAN,R4GMX5_HUMAN	.	UPI0000051E38	SNV	BSG,synonymous_variant,p.%3D,ENST00000353555,;BSG,synonymous_variant,p.%3D,ENST00000573216,;BSG,synonymous_variant,p.%3D,ENST00000333511,;BSG,5_prime_UTR_variant,,ENST00000573784,;BSG,5_prime_UTR_variant,,ENST00000545507,;BSG,5_prime_UTR_variant,,ENST00000576984,;BSG,intron_variant,,ENST00000346916,;BSG,downstream_gene_variant,,ENST00000574970,;BSG,non_coding_transcript_exon_variant,,ENST00000572899,;BSG,non_coding_transcript_exon_variant,,ENST00000576925,;BSG,non_coding_transcript_exon_variant,,ENST00000571735,;BSG,downstream_gene_variant,,ENST00000590218,;	619	40	20	SUCCESS
ZNF551	90233	.	GRCh37	19	58193543	58193543	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	15	0	ENST00000282296.5:c.12G>T	p.Pro4=	p.P4=	ENST00000282296		4	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12959.2	12	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCCCCGGTCGG	NONE	.	.	.	.	.	ENSP00000282296	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000282296	Transcript	.	.	ENSG00000204519	25108	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN551_HUMAN	ZNF551	HGNC	M0R2M4_HUMAN	.	UPI000059D7C6	SNV	ZNF551,synonymous_variant,p.%3D,ENST00000282296,;AC003006.7,5_prime_UTR_variant,,ENST00000594684,;ZNF551,5_prime_UTR_variant,,ENST00000596085,;ZNF551,5_prime_UTR_variant,,ENST00000356715,;ZNF551,intron_variant,,ENST00000601064,;ZSCAN4,downstream_gene_variant,,ENST00000318203,;AC003006.7,non_coding_transcript_exon_variant,,ENST00000599221,;ZNF551,non_coding_transcript_exon_variant,,ENST00000599402,;	197	15	14	SUCCESS
ZNF135	7694	.	GRCh37	19	58579143	58579143	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	100	0	ENST00000313434.5:c.1291A>G	p.Ile431Val	p.I431V	ENST00000313434	NM_003436.3	431	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS54329.1	1363	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGATTCAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.689)	.	tolerated(0.26)	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Ile455Val,ENST00000401053,;ZNF135,missense_variant,p.Ile389Val,ENST00000506786,;ZNF135,missense_variant,p.Ile431Val,ENST00000313434,;ZNF135,missense_variant,p.Ile443Val,ENST00000511556,;ZNF135,missense_variant,p.Ile431Val,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	1366	100	65	SUCCESS
CLPP	8192	.	GRCh37	19	6364566	6364566	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	56	0	ENST00000245816.4:c.471G>A	p.Leu157=	p.L157=	ENST00000245816	NM_006012.2	157	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12162.1	471	RADIA|VARSCANS	.	TCCCTGCTTCT	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_00444,hmmpanther:PTHR10381:SF11,hmmpanther:PTHR10381,Gene3D:3.90.226.10,Pfam_domain:PF00574,Superfamily_domains:SSF52096,Prints_domain:PR00127	.	.	ENSP00000245816	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000245816	Transcript	1	.	ENSG00000125656	2084	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLPP_HUMAN	CLPP	HGNC	M0R208_HUMAN,A4UCS4_HUMAN	.	UPI0000000C4D	SNV	CLPP,synonymous_variant,p.%3D,ENST00000245816,;CLPP,synonymous_variant,p.%3D,ENST00000596149,;CLPP,synonymous_variant,p.%3D,ENST00000597326,;CLPP,intron_variant,,ENST00000596605,;CTB-180A7.3,upstream_gene_variant,,ENST00000595644,;CLPP,non_coding_transcript_exon_variant,,ENST00000594780,;CLPP,non_coding_transcript_exon_variant,,ENST00000596070,;	594	56	28	SUCCESS
MUC16	94025	.	GRCh37	19	9059979	9059979	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772737330	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	87	0	ENST00000397910.4:c.27467C>A	p.Ser9156Tyr	p.S9156Y	ENST00000397910	NM_024690.2	9156	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS54212.1	27467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGATGAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs772737330,COSM1003777,COSM1003776	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	unknown(0)	.	.	0,1,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser9156Tyr,ENST00000397910,;	27671	87	58	SUCCESS
MUC16	94025	.	GRCh37	19	9084032	9084032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	122	0	ENST00000397910.4:c.7783A>T	p.Ser2595Cys	p.S2595C	ENST00000397910	NM_024690.2	2595	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS54212.1	7783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTCTCAG	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser2595Cys,ENST00000397910,;	7987	122	88	SUCCESS
IGSF3	3321	.	GRCh37	1	117146494	117146494	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	54	0	ENST00000369486.3:c.1376A>T	p.Asn459Ile	p.N459I	ENST00000369486	NM_001007237.2	459	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS30814.1	1436	RADIA|VARSCANS	.	TGATATTGCTG	BUFFER|p.R456C|c.1366C>T|3,BUFFER|p.R476C|c.1426C>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358495	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.905)	.	tolerated(0.08)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Asn479Ile,ENST00000318837,;IGSF3,missense_variant,p.Asn459Ile,ENST00000369486,;IGSF3,missense_variant,p.Asn479Ile,ENST00000369483,;	2141	54	31	SUCCESS
MAN1A2	10905	.	GRCh37	1	117944848	117944848	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778911918	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	25	175	0	ENST00000356554.3:c.343C>T	p.His115Tyr	p.H115Y	ENST00000356554	NM_006699.3	115	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS895.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCATGAG	BUFFER|p.R112*|c.334C>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11742:SF40,hmmpanther:PTHR11742	.	.	ENSP00000348959	.	2/13	.	.	.	.	.	.	.	.	rs778911918	2/13	PASS	ENST00000356554	Transcript	.	.	ENSG00000198162	6822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(1)	.	MA1A2_HUMAN	MAN1A2	HGNC	.	.	UPI0000052B45	SNV	MAN1A2,missense_variant,p.His115Tyr,ENST00000356554,;MAN1A2,intron_variant,,ENST00000482811,;	1078	175	113	SUCCESS
SLC27A3	11000	.	GRCh37	1	153752329	153752329	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	36	92	1	ENST00000368661.3:c.2044A>G	p.Lys682Glu	p.K682E	ENST00000368661	NM_024330.1	682	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS1053.1	2044	RADIA|SOMATICSNIPER|VARSCANS	.	CCTTCAAACAG	NONE	.	.	hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801	.	.	ENSP00000357650	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000368661	Transcript	.	.	ENSG00000143554	10997	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	S27A3_HUMAN	SLC27A3	HGNC	.	.	UPI0000038E9E	SNV	SLC27A3,missense_variant,p.Lys143Glu,ENST00000524676,;SLC27A3,missense_variant,p.Lys763Glu,ENST00000271857,;SLC27A3,missense_variant,p.Lys682Glu,ENST00000368661,;SLC27A3,intron_variant,,ENST00000458027,;SLC27A3,downstream_gene_variant,,ENST00000532853,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000484014,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000483574,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000368660,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000368659,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,downstream_gene_variant,,ENST00000461269,;SLC27A3,downstream_gene_variant,,ENST00000468044,;SLC27A3,downstream_gene_variant,,ENST00000531251,;	2109	94	66	SUCCESS
EFHD2	79180	.	GRCh37	1	15753664	15753664	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	108	0	ENST00000375980.4:c.475A>G	p.Lys159Glu	p.K159E	ENST00000375980	NM_024329.5	159	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS155.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCAAGGCG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR13025,hmmpanther:PTHR13025:SF2,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000365147	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000375980	Transcript	.	.	ENSG00000142634	28670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.64)	.	deleterious(0.01)	.	EFHD2_HUMAN	EFHD2	HGNC	.	.	UPI00001362A6	SNV	EFHD2,missense_variant,p.Lys62Glu,ENST00000445566,;EFHD2,missense_variant,p.Lys159Glu,ENST00000375980,;	552	108	54	SUCCESS
FCRL4	83417	.	GRCh37	1	157548283	157548283	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	96	1	ENST00000271532.1:c.1410G>C	p.Gln470His	p.Q470H	ENST00000271532	NM_031282.2	470	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS1166.1	1410	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCTGAGT	NONE	.	.	.	.	.	ENSP00000271532	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000271532	Transcript	.	.	ENSG00000163518	18507	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.07)	.	FCRL4_HUMAN	FCRL4	HGNC	.	.	UPI000006E26B	SNV	FCRL4,missense_variant,p.Gln470His,ENST00000271532,;FCRL4,non_coding_transcript_exon_variant,,ENST00000479869,;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;	1546	98	80	SUCCESS
TOMM40L	84134	.	GRCh37	1	161196209	161196209	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	31	0	ENST00000367987.1:c.-71G>T		p.*24*	ENST00000367987				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1227.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGTTGGG	NONE	.	.	.	.	.	ENSP00000356967	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000367988	Transcript	.	.	ENSG00000158882	25756	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM40L_HUMAN	TOMM40L	HGNC	.	.	UPI000006F917	SNV	TOMM40L,5_prime_UTR_variant,,ENST00000367987,;TOMM40L,5_prime_UTR_variant,,ENST00000545897,;TOMM40L,5_prime_UTR_variant,,ENST00000367988,;NR1I3,downstream_gene_variant,,ENST00000511676,;NR1I3,downstream_gene_variant,,ENST00000512372,;NR1I3,downstream_gene_variant,,ENST00000367985,;NR1I3,downstream_gene_variant,,ENST00000367981,;NR1I3,downstream_gene_variant,,ENST00000367984,;NR1I3,downstream_gene_variant,,ENST00000515621,;NR1I3,downstream_gene_variant,,ENST00000506209,;NR1I3,downstream_gene_variant,,ENST00000367979,;NR1I3,downstream_gene_variant,,ENST00000508740,;AL590714.1,downstream_gene_variant,,ENST00000594609,;APOA2,upstream_gene_variant,,ENST00000468465,;NR1I3,downstream_gene_variant,,ENST00000502985,;NR1I3,downstream_gene_variant,,ENST00000367983,;APOA2,upstream_gene_variant,,ENST00000463812,;NR1I3,downstream_gene_variant,,ENST00000511944,;NR1I3,downstream_gene_variant,,ENST00000442691,;APOA2,upstream_gene_variant,,ENST00000491350,;NR1I3,downstream_gene_variant,,ENST00000504010,;APOA2,upstream_gene_variant,,ENST00000470459,;NR1I3,downstream_gene_variant,,ENST00000412844,;NR1I3,downstream_gene_variant,,ENST00000428574,;NR1I3,downstream_gene_variant,,ENST00000367982,;APOA2,upstream_gene_variant,,ENST00000463273,;NR1I3,downstream_gene_variant,,ENST00000367980,;APOA2,upstream_gene_variant,,ENST00000464492,;NR1I3,downstream_gene_variant,,ENST00000511748,;APOA2,upstream_gene_variant,,ENST00000367990,;NR1I3,downstream_gene_variant,,ENST00000437437,;APOA2,upstream_gene_variant,,ENST00000469730,;NR1I3,downstream_gene_variant,,ENST00000515452,;NR1I3,downstream_gene_variant,,ENST00000508387,;NR1I3,downstream_gene_variant,,ENST00000505005,;MIR5187,upstream_gene_variant,,ENST00000583479,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000474486,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000465512,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000492482,;TOMM40L,intron_variant,,ENST00000470426,;NR1I3,downstream_gene_variant,,ENST00000464422,;NR1I3,downstream_gene_variant,,ENST00000503547,;TOMM40L,upstream_gene_variant,,ENST00000468803,;NR1I3,downstream_gene_variant,,ENST00000488651,;NR1I3,downstream_gene_variant,,ENST00000479324,;TOMM40L,upstream_gene_variant,,ENST00000475793,;NR1I3,downstream_gene_variant,,ENST00000505944,;NR1I3,downstream_gene_variant,,ENST00000510951,;NR1I3,downstream_gene_variant,,ENST00000512340,;NR1I3,downstream_gene_variant,,ENST00000506018,;NR1I3,downstream_gene_variant,,ENST00000502848,;APOA2,upstream_gene_variant,,ENST00000481511,;NR1I3,downstream_gene_variant,,ENST00000507215,;APOA2,upstream_gene_variant,,ENST00000481413,;	199	31	32	SUCCESS
RCSD1	92241	.	GRCh37	1	167666394	167666394	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	10	150	0	ENST00000367854.3:c.533A>C	p.Gln178Pro	p.Q178P	ENST00000367854	NM_052862.3	178	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1263.1	533	MUTECT|MUSE	.	GTCACAGTCAG	NONE	.	.	hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2,Pfam_domain:PF15255	.	.	ENSP00000356828	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000367854	Transcript	.	.	ENSG00000198771	28310	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.09)	.	CPZIP_HUMAN	RCSD1	HGNC	.	.	UPI0000204CFA	SNV	RCSD1,missense_variant,p.Gln148Pro,ENST00000537350,;RCSD1,missense_variant,p.Gln178Pro,ENST00000367854,;RCSD1,missense_variant,p.Gln154Pro,ENST00000361496,;	864	150	149	SUCCESS
CROCC	9696	.	GRCh37	1	17297149	17297149	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758097437	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	72	0	ENST00000375541.5:c.5671C>T	p.Arg1891Cys	p.R1891C	ENST00000375541	NM_014675.3	1891	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS30616.1	5671	RADIA|VARSCANS	.	AGCTTCGTAGC	NONE	byFrequency	.	hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159	.	.	ENSP00000364691	.	35/37	.	.	.	.	.	.	.	.	rs758097437	35/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.835)	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Arg1891Cys,ENST00000375541,;MFAP2,downstream_gene_variant,,ENST00000438542,;MFAP2,downstream_gene_variant,,ENST00000375534,;MFAP2,downstream_gene_variant,,ENST00000375535,;CROCC,non_coding_transcript_exon_variant,,ENST00000465291,;CROCC,non_coding_transcript_exon_variant,,ENST00000465021,;MFAP2,downstream_gene_variant,,ENST00000490075,;	5740	72	38	SUCCESS
USH2A	7399	.	GRCh37	1	216040477	216040477	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	54	117	0	ENST00000307340.3:c.8717A>G	p.Asn2906Ser	p.N2906S	ENST00000307340	NM_206933.2	2906	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS31025.1	8717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTTGTGT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	44/72	.	.	.	.	.	.	.	.	.	44/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Asn2906Ser,ENST00000366943,;USH2A,missense_variant,p.Asn2906Ser,ENST00000307340,;	9104	117	125	SUCCESS
ZNF669	79862	.	GRCh37	1	247264138	247264138	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	75	0	ENST00000343381.6:c.933del	p.Cys311TrpfsTer64	p.C311Wfs*64	ENST00000343381	NM_024804.2	311	tgT/tg	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS31088.1	933	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCCCACATTC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF127,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000342818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343381	Transcript	.	.	ENSG00000188295	25736	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN669_HUMAN	ZNF669	HGNC	.	.	UPI000013E1E0	deletion	ZNF669,frameshift_variant,p.Cys311TrpfsTer64,ENST00000343381,;ZNF669,frameshift_variant,p.Cys225TrpfsTer64,ENST00000448299,;ZNF669,3_prime_UTR_variant,,ENST00000358785,;ZNF669,downstream_gene_variant,,ENST00000366501,;ZNF669,downstream_gene_variant,,ENST00000366500,;ZNF669,downstream_gene_variant,,ENST00000476158,;	1106	75	95	SUCCESS
TRIM58	25893	.	GRCh37	1	248024000	248024000	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	63	155	0	ENST00000366481.3:c.502A>G	p.Thr168Ala	p.T168A	ENST00000366481	NM_015431.3	168	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1636.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGACTGTC	NONE	.	.	hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103	.	.	ENSP00000355437	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000366481	Transcript	.	.	ENSG00000162722	24150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	tolerated(0.21)	.	TRI58_HUMAN	TRIM58	HGNC	.	.	UPI000020590E	SNV	TRIM58,missense_variant,p.Thr168Ala,ENST00000366481,;	550	155	128	SUCCESS
OR14I1	401994	.	GRCh37	1	248844793	248844793	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	58	0	ENST00000342623.3:c.813G>T	p.Val271=	p.V271=	ENST00000342623	NM_001004734.1	271	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31125.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATCACTAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF68,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000339726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342623	Transcript	.	.	ENSG00000189181	19575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O14I1_HUMAN	OR14I1	HGNC	.	.	UPI0000199BC9	SNV	OR14I1,synonymous_variant,p.%3D,ENST00000342623,;	837	58	61	SUCCESS
ZMYM1	79830	.	GRCh37	1	35578710	35578710	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	227	0	ENST00000359858.4:c.1279A>G	p.Asn427Asp	p.N427D	ENST00000359858	NM_024772.3	427	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS41302.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAATATG	NONE	.	.	hmmpanther:PTHR11697:SF88,hmmpanther:PTHR11697	.	.	ENSP00000362427	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000373330	Transcript	.	.	ENSG00000197056	26253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.06)	.	ZMYM1_HUMAN	ZMYM1	HGNC	Q9H5R2_HUMAN,Q5SW02_HUMAN,Q5SVZ7_HUMAN	.	UPI0000203ED6	SNV	ZMYM1,missense_variant,p.Asn427Asp,ENST00000417119,;ZMYM1,missense_variant,p.Asn427Asp,ENST00000373330,;ZMYM1,missense_variant,p.Asn427Asp,ENST00000359858,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000488455,;ZMYM1,downstream_gene_variant,,ENST00000475654,;ZMYM1,downstream_gene_variant,,ENST00000463393,;	1453	227	138	SUCCESS
WDR65	0	.	GRCh37	1	43637963	43637963	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	82	0	ENST00000372492.4:c.-181A>G		p.*61*	ENST00000372492	NM_001195831.2	44		0	.	.	.	.	.	G	L	protein_coding	YES	CCDS53308.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAACTTTT	NONE	.	.	.	.	.	ENSP00000407323	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000431635	Transcript	.	.	ENSG00000117395	15531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EBNA1BP2	HGNC	Q6IB29_HUMAN,H7C2Q8_HUMAN	.	UPI0000204E6D	SNV	EBNA1BP2,synonymous_variant,p.%3D,ENST00000431635,;WDR65,5_prime_UTR_variant,,ENST00000372492,;WDR65,upstream_gene_variant,,ENST00000529956,;EBNA1BP2,upstream_gene_variant,,ENST00000236051,;WDR65,upstream_gene_variant,,ENST00000528956,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000461557,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000491223,;EBNA1BP2,upstream_gene_variant,,ENST00000463906,;EBNA1BP2,upstream_gene_variant,,ENST00000483082,;EBNA1BP2,upstream_gene_variant,,ENST00000472982,;WDR65,upstream_gene_variant,,ENST00000533339,;WDR65,upstream_gene_variant,,ENST00000525227,;	279	82	43	SUCCESS
IL12RB2	3595	.	GRCh37	1	67833704	67833704	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	51	0	ENST00000262345.1:c.1455T>C	p.Ile485=	p.I485=	ENST00000262345	NM_001559.2	485	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS638.1	1455	RADIA|MUTECT|MUSE|VARSCANS	.	CTGATTTCAGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000262345	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,synonymous_variant,p.%3D,ENST00000541374,;IL12RB2,synonymous_variant,p.%3D,ENST00000544434,;IL12RB2,synonymous_variant,p.%3D,ENST00000262345,;IL12RB2,synonymous_variant,p.%3D,ENST00000371000,;	2095	51	43	SUCCESS
CLCA1	1179	.	GRCh37	1	86939514	86939514	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	10	170	0	ENST00000234701.3:c.406C>A	p.Pro136Thr	p.P136T	ENST00000234701		136	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS709.1	406	MUTECT|MUSE|VARSCANS	.	TCACTCCTGAT	NONE	.	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434	.	.	ENSP00000234701	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.608)	.	deleterious(0)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Pro136Thr,ENST00000234701,;CLCA1,missense_variant,p.Pro136Thr,ENST00000394711,;	757	170	115	SUCCESS
ABCA4	24	.	GRCh37	1	94496008	94496008	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61750142	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	55	0	ENST00000370225.3:c.4328G>A	p.Arg1443His	p.R1443H	ENST00000370225	NM_000350.2	1443	cGc/cAc	0	T:0,T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS747.1	4328	RADIA|MUTECT|VARSCANS	not_provided	GGCAGCGGTTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	T:0.0001,T:0.0001	ENSP00000359245	.	29/50	.	.	.	.	.	.	.	.	CM003383,rs61750142,RISN_ABCR:c.4328G>A	29/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,0	.	.	probably_damaging(0.931)	.	deleterious(0.03)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Arg1443His,ENST00000370225,;ABCA4,upstream_gene_variant,,ENST00000460514,;	4415	55	29	SUCCESS
SSTR4	6754	.	GRCh37	20	23016896	23016896	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	37	0	ENST00000255008.3:c.776G>A	p.Arg259Lys	p.R259K	ENST00000255008	NM_001052.2	259	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS42856.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGCTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00246	.	.	ENSP00000255008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000255008	Transcript	.	.	ENSG00000132671	11333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.35)	.	tolerated(0.08)	.	SSR4_HUMAN	SSTR4	HGNC	.	.	UPI000013CE7A	SNV	SSTR4,missense_variant,p.Arg259Lys,ENST00000255008,;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	840	37	29	SUCCESS
C20orf27	54976	.	GRCh37	20	3739248	3739248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	14	41	0	ENST00000379772.3:c.97G>T	p.Asp33Tyr	p.D33Y	ENST00000379772	NM_001258429.1	33	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33436.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCAAAGT	BUFFER|p.E59*|c.175G>T|3	.	.	hmmpanther:PTHR13287,Pfam_domain:PF15006	.	.	ENSP00000217195	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000217195	Transcript	.	.	ENSG00000101220	15873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	CT027_HUMAN	C20orf27	HGNC	.	.	UPI0000470A46	SNV	C20orf27,missense_variant,p.Asp33Tyr,ENST00000379772,;C20orf27,missense_variant,p.Asp33Tyr,ENST00000399672,;C20orf27,missense_variant,p.Asp27Tyr,ENST00000399683,;C20orf27,missense_variant,p.Asp58Tyr,ENST00000217195,;	324	41	19	SUCCESS
SGSM1	129049	.	GRCh37	22	25270403	25270403	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767672095	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	71	2	ENST00000400359.4:c.1313G>A	p.Ser438Asn	p.S438N	ENST00000400359	NM_133454.2	438	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS46674.1	1313	SOMATICSNIPER|VARSCANS	.	GGGCAGCACTT	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF187	.	.	ENSP00000383212	.	13/26	.	.	.	.	.	.	.	.	rs767672095	13/26	PASS	ENST00000400359	Transcript	.	.	ENSG00000167037	29410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.37)	.	SGSM1_HUMAN	SGSM1	HGNC	.	.	UPI00006EB130	SNV	SGSM1,missense_variant,p.Ser438Asn,ENST00000400359,;SGSM1,intron_variant,,ENST00000400358,;SGSM1,intron_variant,,ENST00000480523,;SGSM1,intron_variant,,ENST00000473458,;	1320	73	59	SUCCESS
MN1	4330	.	GRCh37	22	28196151	28196151	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	13	0	ENST00000302326.4:c.381C>T	p.Cys127=	p.C127=	ENST00000302326	NM_002430.2	127	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS42998.1	381	RADIA|MUTECT|MUSE	.	TGCAGGCACGA	NONE	.	.	hmmpanther:PTHR15821	.	.	ENSP00000304956	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302326	Transcript	.	.	ENSG00000169184	7180	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MN1_HUMAN	MN1	HGNC	A5HML1_HUMAN	.	UPI0000207445	SNV	MN1,synonymous_variant,p.%3D,ENST00000302326,;MN1,upstream_gene_variant,,ENST00000424656,;	1336	13	13	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107423271	107423271	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	80	0	ENST00000361686.4:c.1453C>T	p.Leu485=	p.L485=	ENST00000361686	NM_032528.2	485	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2073.1	1453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTAGTGGGT	NONE	.	.	hmmpanther:PTHR13713:SF48,hmmpanther:PTHR13713,Pfam_domain:PF00777	.	.	ENSP00000386942	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,synonymous_variant,p.%3D,ENST00000409382,;ST6GAL2,synonymous_variant,p.%3D,ENST00000361686,;ST6GAL2,synonymous_variant,p.%3D,ENST00000361803,;	2064	80	65	SUCCESS
SULT1C2	6819	.	GRCh37	2	108917249	108917249	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	52	0	ENST00000251481.6:c.278-45T>A		p.*93*	ENST00000251481	NM_001056.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2076.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTAGTGC	NONE	.	.	.	.	.	ENSP00000319622	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326853	Transcript	.	.	ENSG00000198203	11456	.	.	MODIFIER	4/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ST1C2_HUMAN	SULT1C2	HGNC	.	.	UPI000002B313	SNV	SULT1C2,splice_region_variant,,ENST00000437390,;SULT1C2,intron_variant,,ENST00000251481,;SULT1C2,intron_variant,,ENST00000409067,;SULT1C2,intron_variant,,ENST00000438339,;SULT1C2,intron_variant,,ENST00000409880,;SULT1C2,intron_variant,,ENST00000326853,;SULT1C2,non_coding_transcript_exon_variant,,ENST00000495441,;SULT1C2,intron_variant,,ENST00000442801,;	.	52	49	SUCCESS
CCDC93	54520	.	GRCh37	2	118703151	118703151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	34	0	ENST00000376300.2:c.1304C>T	p.Ser435Phe	p.S435F	ENST00000376300	NM_019044.4	435	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS2121.2	1304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGAGAGG	NONE	.	.	hmmpanther:PTHR16441	.	.	ENSP00000365477	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000376300	Transcript	.	.	ENSG00000125633	25611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.03)	.	CCD93_HUMAN	CCDC93	HGNC	.	.	UPI0000207DEC	SNV	CCDC93,missense_variant,p.Ser435Phe,ENST00000376300,;CCDC93,missense_variant,p.Ser434Phe,ENST00000319432,;CCDC93,missense_variant,p.Ser52Phe,ENST00000437999,;CCDC93,downstream_gene_variant,,ENST00000488908,;CCDC93,upstream_gene_variant,,ENST00000466171,;	1442	34	24	SUCCESS
MSGN1	343930	.	GRCh37	2	17998144	17998144	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs981143103	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	49	200	0	ENST00000281047.3:c.359G>A	p.Arg120Lys	p.R120K	ENST00000281047	NM_001105569.1	120	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS42657.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGGATGT	NONE	.	.	hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF4,Superfamily_domains:SSF47459	.	.	ENSP00000281047	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000281047	Transcript	.	.	ENSG00000151379	14907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.98)	.	MSGN1_HUMAN	MSGN1	HGNC	.	.	UPI00001D7580	SNV	MSGN1,missense_variant,p.Arg120Lys,ENST00000281047,;	382	200	138	SUCCESS
MAP2	4133	.	GRCh37	2	210588377	210588377	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	69	213	0	ENST00000360351.4:c.5074-2056A>T		p.*1692*	ENST00000360351	NM_002374.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2384.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAAGGATA	NONE	.	.	.	.	.	ENSP00000353508	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODIFIER	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Lys412Met,ENST00000199940,;MAP2,intron_variant,,ENST00000360351,;MAP2,intron_variant,,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000361559,;RNA5SP118,upstream_gene_variant,,ENST00000410385,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;	.	213	157	SUCCESS
DOCK10	55619	.	GRCh37	2	225688292	225688292	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752115203	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	39	84	0	ENST00000258390.7:c.3109C>A	p.His1037Asn	p.H1037N	ENST00000258390	NM_014689.2	1037	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS46528.1	3109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATGGTCGG	NONE	byFrequency	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	28/56	.	.	.	.	.	.	.	.	rs752115203	28/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.03)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.His1037Asn,ENST00000258390,;DOCK10,missense_variant,p.His1031Asn,ENST00000409592,;	3177	84	83	SUCCESS
FAM179A	0	.	GRCh37	2	29259514	29259514	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749293820	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	91	0	ENST00000379558.4:c.2526C>A	p.His842Gln	p.H842Q	ENST00000379558	NM_199280.2	842	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS1769.2	2526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACACCCCAT	NONE	.	.	hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000368876	.	18/20	.	.	.	.	.	.	.	.	rs749293820	18/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.17)	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,missense_variant,p.His787Gln,ENST00000403861,;FAM179A,missense_variant,p.His842Gln,ENST00000379558,;FAM179A,downstream_gene_variant,,ENST00000401723,;FAM179A,non_coding_transcript_exon_variant,,ENST00000465300,;FAM179A,non_coding_transcript_exon_variant,,ENST00000475900,;FAM179A,downstream_gene_variant,,ENST00000460951,;	2877	91	84	SUCCESS
ASTL	431705	.	GRCh37	2	96799781	96799781	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	66	0	ENST00000342380.2:c.260T>G	p.Leu87Arg	p.L87R	ENST00000342380	NM_001002036.3	87	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS33249.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACAGCAGT	NONE	.	.	hmmpanther:PTHR10127	.	.	ENSP00000343674	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	deleterious(0.05)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Leu87Arg,ENST00000342380,;ASTL,non_coding_transcript_exon_variant,,ENST00000470582,;	260	66	32	SUCCESS
GPR149	344758	.	GRCh37	3	154146446	154146446	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	172	0	ENST00000389740.2:c.959T>A	p.Val320Asp	p.V320D	ENST00000389740	NM_001038705.1	320	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS43162.1	959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGACTTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF32,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000374390	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,missense_variant,p.Val320Asp,ENST00000389740,;	1059	172	106	SUCCESS
MFSD1	64747	.	GRCh37	3	158525238	158525238	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	110	0	ENST00000264266.8:c.426A>C	p.Gly142=	p.G142=	ENST00000264266		142	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS3185.2	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGAAGATT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF84,hmmpanther:PTHR24003,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000403117	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000415822	Transcript	.	.	ENSG00000118855	25874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFSD1_HUMAN	MFSD1	HGNC	C9JAC3_HUMAN	.	UPI0001AE7604	SNV	MFSD1,synonymous_variant,p.%3D,ENST00000392813,;MFSD1,synonymous_variant,p.%3D,ENST00000474670,;MFSD1,synonymous_variant,p.%3D,ENST00000415822,;MFSD1,synonymous_variant,p.%3D,ENST00000264266,;MFSD1,downstream_gene_variant,,ENST00000486568,;MFSD1,upstream_gene_variant,,ENST00000477743,;MFSD1,downstream_gene_variant,,ENST00000491804,;MFSD1,downstream_gene_variant,,ENST00000482835,;MFSD1,downstream_gene_variant,,ENST00000465739,;MFSD1,3_prime_UTR_variant,,ENST00000471266,;MFSD1,3_prime_UTR_variant,,ENST00000484166,;MFSD1,3_prime_UTR_variant,,ENST00000480292,;MFSD1,3_prime_UTR_variant,,ENST00000471500,;MFSD1,non_coding_transcript_exon_variant,,ENST00000476860,;MFSD1,upstream_gene_variant,,ENST00000489639,;	714	110	66	SUCCESS
VPS8	23355	.	GRCh37	3	184646286	184646286	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	111	0	ENST00000437079.3:c.2679G>C	p.Glu893Asp	p.E893D	ENST00000437079	NM_001009921.2	893	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS46971.1	2679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGAGTCG	NONE	.	.	hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19	.	.	ENSP00000397879	.	32/48	.	.	.	.	.	.	.	.	.	32/48	PASS	ENST00000437079	Transcript	.	.	ENSG00000156931	29122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.17)	.	VPS8_HUMAN	VPS8	HGNC	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN	.	UPI0000160BDC	SNV	VPS8,missense_variant,p.Glu801Asp,ENST00000446204,;VPS8,missense_variant,p.Glu891Asp,ENST00000436792,;VPS8,missense_variant,p.Glu893Asp,ENST00000437079,;VPS8,missense_variant,p.Glu893Asp,ENST00000287546,;VPS8,non_coding_transcript_exon_variant,,ENST00000463687,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,downstream_gene_variant,,ENST00000452140,;	2850	111	88	SUCCESS
VILL	50853	.	GRCh37	3	38035098	38035098	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	34	0	ENST00000283713.6:c.-66C>T		p.*22*	ENST00000283713				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2670.2	.	MUTECT|MUSE	.	GGTGTCGGTCT	NONE	.	.	.	.	.	ENSP00000283713	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000283713	Transcript	.	.	ENSG00000136059	30906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VILL_HUMAN	VILL	HGNC	E9PFV5_HUMAN,C9JUR8_HUMAN	.	UPI000022BFB0	SNV	VILL,5_prime_UTR_variant,,ENST00000416303,;VILL,5_prime_UTR_variant,,ENST00000492491,;VILL,5_prime_UTR_variant,,ENST00000283713,;VILL,5_prime_UTR_variant,,ENST00000383759,;VILL,upstream_gene_variant,,ENST00000465644,;VILL,non_coding_transcript_exon_variant,,ENST00000460040,;VILL,upstream_gene_variant,,ENST00000412008,;VILL,upstream_gene_variant,,ENST00000484717,;	201	34	20	SUCCESS
RNF175	285533	.	GRCh37	4	154636682	154636682	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	64	0	ENST00000347063.4:c.763G>A	p.Val255Ile	p.V255I	ENST00000347063	NM_173662.2	255	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS47149.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACACATGAT	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR13407:SF2,hmmpanther:PTHR13407,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000340979	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000347063	Transcript	.	.	ENSG00000145428	27735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.15)	.	RN175_HUMAN	RNF175	HGNC	.	.	UPI0001AE7525	SNV	RNF175,missense_variant,p.Val127Met,ENST00000274068,;RNF175,missense_variant,p.Val255Ile,ENST00000347063,;RNF175,downstream_gene_variant,,ENST00000508248,;RP11-153M7.5,upstream_gene_variant,,ENST00000505051,;RNF175,downstream_gene_variant,,ENST00000508967,;RNF175,downstream_gene_variant,,ENST00000506505,;RNF175,splice_region_variant,,ENST00000513656,;RNF175,3_prime_UTR_variant,,ENST00000503694,;	1136	65	44	SUCCESS
DCHS2	54798	.	GRCh37	4	155412382	155412382	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	77	0	ENST00000339452.1:c.126G>A	p.Arg42=	p.R42=	ENST00000339452	NM_001142552.1	42	agG/agA	0	.	.	.	.	.	T	R	protein_coding	.	CCDS47151.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTCCTGGC	NONE	.	.	.	.	.	ENSP00000395539	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000443500	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DCHS2	HGNC	Q6V1P8_HUMAN,E9PG03_HUMAN	.	UPI0001881B4E	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000443500,;DCHS2,synonymous_variant,p.%3D,ENST00000339452,;DCHS2,synonymous_variant,p.%3D,ENST00000456341,;	549	77	57	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160243510	160243510	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	141	0	ENST00000264431.4:c.382G>T	p.Glu128Ter	p.E128*	ENST00000264431	NM_014247.2	128	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43277.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGAATTT	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000264431	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	SNV	RAPGEF2,stop_gained,p.Glu109Ter,ENST00000514565,;RAPGEF2,stop_gained,p.Glu128Ter,ENST00000264431,;RAPGEF2,stop_gained,p.Glu126Ter,ENST00000510510,;RAPGEF2,stop_gained,p.Glu56Ter,ENST00000511336,;RAPGEF2,non_coding_transcript_exon_variant,,ENST00000504604,;RAPGEF2,upstream_gene_variant,,ENST00000513816,;	801	141	64	SUCCESS
ADAM29	11086	.	GRCh37	4	175898867	175898867	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	49	138	0	ENST00000359240.3:c.2191C>A	p.Gln731Lys	p.Q731K	ENST00000359240	NM_014269.4	731	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3823.1	2191	RADIA|MUTECT|MUSE	.	CTCCCCAGAGT	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.57)	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Gln731Lys,ENST00000514159,;ADAM29,missense_variant,p.Gln731Lys,ENST00000445694,;ADAM29,missense_variant,p.Gln731Lys,ENST00000404450,;ADAM29,missense_variant,p.Gln731Lys,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,intron_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	2861	138	55	SUCCESS
ADAM29	11086	.	GRCh37	4	175898869	175898869	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	48	136	1	ENST00000359240.3:c.2193G>A	p.Gln731=	p.Q731=	ENST00000359240	NM_014269.4	731	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS3823.1	2193	RADIA|MUTECT|MUSE	.	CCCCAGAGTCA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	COSM1181807	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,synonymous_variant,p.%3D,ENST00000514159,;ADAM29,synonymous_variant,p.%3D,ENST00000445694,;ADAM29,synonymous_variant,p.%3D,ENST00000404450,;ADAM29,synonymous_variant,p.%3D,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,intron_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	2863	137	55	SUCCESS
LGI2	55203	.	GRCh37	4	25005095	25005095	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs150163590	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	135	0	ENST00000382114.4:c.1616T>C	p.Ile539Thr	p.I539T	ENST00000382114	NM_018176.3	539	aTa/aCa	0	G:0	.	.	.	.	G	I/T	protein_coding	YES	CCDS3431.1	1616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTATATGT	NONE	.	.	hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367,PROSITE_profiles:PS50912	.	G:0.0001	ENSP00000371548	.	8/8	.	.	.	.	.	.	.	.	rs150163590	8/8	PASS	ENST00000382114	Transcript	.	.	ENSG00000153012	18710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.14)	.	LGI2_HUMAN	LGI2	HGNC	.	.	UPI0000047256	SNV	LGI2,missense_variant,p.Ile539Thr,ENST00000382114,;LGI2,intron_variant,,ENST00000512108,;	1802	135	98	SUCCESS
GRXCR1	389207	.	GRCh37	4	42895442	42895442	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	44	113	0	ENST00000399770.2:c.159T>A	p.Asp53Glu	p.D53E	ENST00000399770	NM_001080476.2	53	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS43225.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGATGGACT	NONE	.	.	hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.42)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Asp53Glu,ENST00000399770,;RN7SKP82,downstream_gene_variant,,ENST00000516786,;	159	113	84	SUCCESS
KDR	3791	.	GRCh37	4	55964415	55964415	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	130	0	ENST00000263923.4:c.2398G>C	p.Gly800Arg	p.G800R	ENST00000263923	NM_002253.2	800	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS3497.1	2398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCCTGTCT	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45	.	.	ENSP00000263923	.	17/30	.	.	.	.	.	.	.	.	.	17/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,missense_variant,p.Gly800Arg,ENST00000263923,;KDR,upstream_gene_variant,,ENST00000509309,;	2694	130	76	SUCCESS
UGT2A3	79799	.	GRCh37	4	69816874	69816874	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	56	158	1	ENST00000251566.4:c.605G>T	p.Arg202Ile	p.R202I	ENST00000251566	NM_024743.3	202	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS3525.1	605	RADIA|SOMATICSNIPER|VARSCANS	.	TCATTCTGTCT	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF130	.	.	ENSP00000251566	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000251566	Transcript	.	.	ENSG00000135220	28528	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	UD2A3_HUMAN	UGT2A3	HGNC	F5GY78_HUMAN	.	UPI000004E644	SNV	UGT2A3,missense_variant,p.Arg202Ile,ENST00000251566,;UGT2A3,5_prime_UTR_variant,,ENST00000420231,;UGT2A3,missense_variant,p.Arg68Ile,ENST00000503012,;	636	159	129	SUCCESS
CCT5	22948	.	GRCh37	5	10258415	10258415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	19	134	0	ENST00000280326.4:c.723A>C	p.Lys241Asn	p.K241N	ENST00000280326	NM_012073.3	241	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS3877.1	723	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAAGTGAG	NONE	.	.	hmmpanther:PTHR11353,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02343,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	.	.	ENSP00000280326	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000280326	Transcript	1	.	ENSG00000150753	1618	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	TCPE_HUMAN	CCT5	HGNC	Q9HB74_HUMAN,Q9BU08_HUMAN,Q96GI1_HUMAN,B7ZAR1_HUMAN	.	UPI0000001C34	SNV	CCT5,missense_variant,p.Lys241Asn,ENST00000280326,;CCT5,missense_variant,p.Lys148Asn,ENST00000506600,;CCT5,missense_variant,p.Lys220Asn,ENST00000503026,;CCT5,missense_variant,p.Lys203Asn,ENST00000515676,;CCT5,missense_variant,p.Lys186Asn,ENST00000515390,;CCT5,splice_region_variant,,ENST00000423695,;CCT5,splice_region_variant,,ENST00000512975,;CCT5,splice_region_variant,,ENST00000514674,;CCT5,splice_region_variant,,ENST00000503454,;CCT5,downstream_gene_variant,,ENST00000510326,;CCT5,downstream_gene_variant,,ENST00000508451,;CCT5,downstream_gene_variant,,ENST00000511700,;CCT5,upstream_gene_variant,,ENST00000511995,;CCT5,upstream_gene_variant,,ENST00000509846,;	1143	134	112	SUCCESS
PJA2	9867	.	GRCh37	5	108714271	108714271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs865837752	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	84	0	ENST00000361189.2:c.917A>G	p.His306Arg	p.H306R	ENST00000361189	NM_014819.4	306	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS4099.1	917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATGGTTC	NONE	.	.	hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5	.	.	ENSP00000354775	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000361189	Transcript	.	.	ENSG00000198961	17481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.1)	.	PJA2_HUMAN	PJA2	HGNC	.	.	UPI000013D192	SNV	PJA2,missense_variant,p.His306Arg,ENST00000361189,;PJA2,missense_variant,p.His306Arg,ENST00000361557,;PJA2,downstream_gene_variant,,ENST00000511624,;PJA2,downstream_gene_variant,,ENST00000512822,;	1157	84	79	SUCCESS
DNAH5	1767	.	GRCh37	5	13917343	13917343	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745647908	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	60	0	ENST00000265104.4:c.998G>A	p.Arg333Gln	p.R333Q	ENST00000265104	NM_001369.2	333	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3882.1	998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTCGAATA	NONE	byFrequency	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	8/79	.	.	.	.	.	.	.	.	rs745647908	8/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Arg333Gln,ENST00000265104,;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;	1103	60	58	SUCCESS
PCDHB1	29930	.	GRCh37	5	140433011	140433011	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	103	0	ENST00000306549.3:c.1956T>A	p.Ala652=	p.A652=	ENST00000306549	NM_013340.2	652	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4243.1	1956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCTTTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,synonymous_variant,p.%3D,ENST00000306549,;	2033	103	78	SUCCESS
MROH2B	133558	.	GRCh37	5	41017973	41017973	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	83	0	ENST00000399564.4:c.2863A>G	p.Ile955Val	p.I955V	ENST00000399564	NM_173489.4	955	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47202.1	2863	MUTECT|MUSE	.	ACCAATAGTTG	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371	.	.	ENSP00000382476	.	28/42	.	.	.	.	.	.	.	.	.	28/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.098)	.	tolerated(0.44)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Ile510Val,ENST00000506092,;MROH2B,missense_variant,p.Ile955Val,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	3314	83	58	SUCCESS
KIAA0947	0	.	GRCh37	5	5462512	5462512	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	95	0	ENST00000296564.7:c.3065G>C	p.Gly1022Ala	p.G1022A	ENST00000296564	NM_015325.2	1022	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS47187.1	3065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGAGACA	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0.02)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Gly1022Ala,ENST00000296564,;	3287	95	62	SUCCESS
ADCY2	108	.	GRCh37	5	7709399	7709399	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs968274397	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	84	0	ENST00000338316.4:c.1477C>T	p.Arg493Cys	p.R493C	ENST00000338316	NM_020546.2	493	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3872.2	1477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCCGCATG	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	10/25	.	.	.	.	.	.	.	.	COSM739184,COSM1438701,COSM1647825	10/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.776)	.	deleterious(0)	1,1,1	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Arg493Cys,ENST00000338316,;ADCY2,missense_variant,p.Arg313Cys,ENST00000537121,;RP11-711G10.1,intron_variant,,ENST00000514105,;	1566	84	71	SUCCESS
MAP7	9053	.	GRCh37	6	136704840	136704840	+	synonymous_variant	Silent	SNP	T	T	A	rs780297858	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	32	76	0	ENST00000354570.3:c.606A>T	p.Ser202=	p.S202=	ENST00000354570	NM_001198616.1	202	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS56455.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATGAAGA	NONE	.	.	hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4	.	.	ENSP00000414712	.	7/19	.	.	.	.	.	.	.	.	rs780297858	7/19	PASS	ENST00000454590	Transcript	.	.	ENSG00000135525	6869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP7_HUMAN	MAP7	HGNC	.	.	UPI0001AE72EF	SNV	MAP7,synonymous_variant,p.%3D,ENST00000544465,;MAP7,synonymous_variant,p.%3D,ENST00000454590,;MAP7,synonymous_variant,p.%3D,ENST00000354570,;MAP7,synonymous_variant,p.%3D,ENST00000432797,;MAP7,intron_variant,,ENST00000438100,;	790	76	42	SUCCESS
NMBR	4829	.	GRCh37	6	142409548	142409548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	27	64	1	ENST00000258042.1:c.248C>A	p.Ser83Tyr	p.S83Y	ENST00000258042	NM_002511.2	83	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5196.1	248	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTAGAGATG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,PROSITE_profiles:PS50262	.	.	ENSP00000258042	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258042	Transcript	.	.	ENSG00000135577	7843	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NMBR_HUMAN	NMBR	HGNC	.	.	UPI000013CFAB	SNV	NMBR,missense_variant,p.Ser83Tyr,ENST00000258042,;RP11-137J7.2,intron_variant,,ENST00000454401,;	389	65	34	SUCCESS
AGER	177	.	GRCh37	6	32149151	32149151	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	51	0	ENST00000375076.4:c.1095G>A	p.Arg365=	p.R365=	ENST00000375076	NM_001206929.1	365	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4746.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGCCTTTG	NONE	.	.	hmmpanther:PTHR11973:SF1,hmmpanther:PTHR11973	.	.	ENSP00000364217	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000375076	Transcript	.	.	ENSG00000204305	320	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAGE_HUMAN	AGER	HGNC	Q9UQR5_HUMAN,Q3L1S0_HUMAN,Q101R2_HUMAN,E9LVY5_HUMAN,C0IP14_HUMAN	.	UPI00001330EF	SNV	AGER,missense_variant,p.Ala314Thr,ENST00000375067,;AGER,synonymous_variant,p.%3D,ENST00000375070,;AGER,synonymous_variant,p.%3D,ENST00000375076,;AGER,synonymous_variant,p.%3D,ENST00000375069,;AGER,3_prime_UTR_variant,,ENST00000375065,;RNF5,intron_variant,,ENST00000427134,;AGER,intron_variant,,ENST00000375055,;AGER,intron_variant,,ENST00000438221,;AGER,downstream_gene_variant,,ENST00000375056,;AGER,downstream_gene_variant,,ENST00000450110,;PBX2,downstream_gene_variant,,ENST00000375050,;AGPAT1,upstream_gene_variant,,ENST00000395499,;AGPAT1,upstream_gene_variant,,ENST00000375104,;AGPAT1,upstream_gene_variant,,ENST00000395497,;AGPAT1,upstream_gene_variant,,ENST00000336984,;RNF5,downstream_gene_variant,,ENST00000375094,;AGER,downstream_gene_variant,,ENST00000538695,;XXbac-BPG300A18.13,downstream_gene_variant,,ENST00000559458,;RNF5,downstream_gene_variant,,ENST00000487940,;AGPAT1,upstream_gene_variant,,ENST00000490711,;AGER,non_coding_transcript_exon_variant,,ENST00000473619,;AGER,non_coding_transcript_exon_variant,,ENST00000484849,;AGER,non_coding_transcript_exon_variant,,ENST00000469940,;AGER,intron_variant,,ENST00000488669,;PBX2,downstream_gene_variant,,ENST00000495300,;	1197	51	53	SUCCESS
DNAH8	1769	.	GRCh37	6	38858481	38858481	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs937388868	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	80	0	ENST00000359357.3:c.7876T>C	p.Cys2626Arg	p.C2626R	ENST00000359357		2626	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	.	7876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATGTGAG	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	56/91	.	.	.	.	.	.	.	.	.	56/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Cys2626Arg,ENST00000359357,;DNAH8,missense_variant,p.Cys2831Arg,ENST00000327475,;DNAH8,missense_variant,p.Cys2590Arg,ENST00000441566,;DNAH8,missense_variant,p.Cys2843Arg,ENST00000449981,;	8130	80	56	SUCCESS
IRF4	3662	.	GRCh37	6	393203	393203	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	45	122	0	ENST00000380956.4:c.51G>A	p.Val17=	p.V17=	ENST00000380956	NM_001195286.1	17	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4469.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTGAGCTG	NONE	.	.	hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6,SMART_domains:SM00348	.	.	ENSP00000370343	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000380956	Transcript	.	.	ENSG00000137265	6119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRF4_HUMAN	IRF4	HGNC	.	.	UPI000012D88B	SNV	IRF4,synonymous_variant,p.%3D,ENST00000380956,;IRF4,intron_variant,,ENST00000495137,;IRF4,intron_variant,,ENST00000468485,;IRF4,upstream_gene_variant,,ENST00000469834,;IRF4,synonymous_variant,p.%3D,ENST00000493114,;	177	122	108	SUCCESS
CALD1	800	.	GRCh37	7	134642970	134642970	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	99	0	ENST00000361675.2:c.1992del	p.Lys664AsnfsTer8	p.K664Nfs*8	ENST00000361675		664	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS5835.1	1990	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGTCAAATCG	NONE	.	.	hmmpanther:PTHR18949:SF0,hmmpanther:PTHR18949,Pfam_domain:PF02029,Prints_domain:PR01076	.	.	ENSP00000354826	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000361675	Transcript	.	.	ENSG00000122786	1441	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CALD1_HUMAN	CALD1	HGNC	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN	.	UPI0000140A64	deletion	CALD1,frameshift_variant,p.Lys429AsnfsTer8,ENST00000393118,;CALD1,frameshift_variant,p.Lys409AsnfsTer8,ENST00000361901,;CALD1,frameshift_variant,p.Lys434AsnfsTer8,ENST00000422748,;CALD1,frameshift_variant,p.Lys664AsnfsTer8,ENST00000361675,;CALD1,frameshift_variant,p.Lys414AsnfsTer8,ENST00000543443,;CALD1,frameshift_variant,p.Lys428AsnfsTer8,ENST00000495522,;CALD1,frameshift_variant,p.Lys409AsnfsTer8,ENST00000417172,;CALD1,frameshift_variant,p.Lys435AsnfsTer8,ENST00000361388,;CALD1,frameshift_variant,p.Lys403AsnfsTer8,ENST00000424922,;CALD1,frameshift_variant,p.Lys409AsnfsTer8,ENST00000436461,;CALD1,non_coding_transcript_exon_variant,,ENST00000466704,;CALD1,frameshift_variant,p.Lys403AsnfsTer8,ENST00000443197,;CALD1,3_prime_UTR_variant,,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;CALD1,upstream_gene_variant,,ENST00000473714,;	2219	99	73	SUCCESS
MIR490	574443	.	GRCh37	7	136587968	136587968	+	mature_miRNA_variant	RNA	SNP	G	G	A	rs374751196	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	91	0	ENST00000384865.1:n.55G>A		p.*19*	ENST00000384865				0	A:0.0003	.	.	.	.	A	.	protein_coding	YES	CCDS5843.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGGGTCA	NONE	.	.	.	.	A:0	ENSP00000399745	.	.	.	.	.	.	.	.	.	.	rs374751196	.	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,intron_variant,,ENST00000320658,;CHRM2,intron_variant,,ENST00000401861,;CHRM2,intron_variant,,ENST00000397608,;CHRM2,intron_variant,,ENST00000402486,;CHRM2,intron_variant,,ENST00000453373,;CHRM2,intron_variant,,ENST00000445907,;MIR490,mature_miRNA_variant,,ENST00000384865,;hsa-mir-490,non_coding_transcript_exon_variant,,ENST00000608269,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	.	91	53	SUCCESS
ZNF777	27153	.	GRCh37	7	149152414	149152414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	65	0	ENST00000247930.4:c.700C>A	p.Leu234Met	p.L234M	ENST00000247930	NM_015694.2	234	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS43675.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGATGGT	NONE	.	.	hmmpanther:PTHR24402:SF204,hmmpanther:PTHR24402,Pfam_domain:PF12417	.	.	ENSP00000247930	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000247930	Transcript	.	.	ENSG00000196453	22213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0.03)	.	ZN777_HUMAN	ZNF777	HGNC	Q3KR11_HUMAN	.	UPI0000E9B152	SNV	ZNF777,missense_variant,p.Leu234Met,ENST00000247930,;	1024	65	64	SUCCESS
GIMAP1	170575	.	GRCh37	7	150416151	150416151	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	67	0	ENST00000307194.5:c.16A>C	p.Met6Leu	p.M6L	ENST00000307194	NM_130759.3	6	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS5906.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGATGGCG	NONE	.	.	hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF46	.	.	ENSP00000302833	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000307194	Transcript	.	.	ENSG00000213203	23237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0.02)	.	GIMA1_HUMAN	GIMAP1	HGNC	.	.	UPI0000073C9B	SNV	GIMAP1,missense_variant,p.Met6Leu,ENST00000307194,;GIMAP5,upstream_gene_variant,,ENST00000498181,;GIMAP1,non_coding_transcript_exon_variant,,ENST00000464461,;	156	67	44	SUCCESS
HTR5A	3361	.	GRCh37	7	154862937	154862937	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141719500	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	25	0	ENST00000287907.2:c.328G>T	p.Gly110Cys	p.G110C	ENST00000287907	NM_024012.3	110	Ggt/Tgt	0	C:0	.	.	.	.	T	P/H	protein_coding	YES	.	77	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGCTAGGTCGG	NONE	.	.	.	.	C:0.0001	ENSP00000441588	.	1/3	.	.	.	.	.	.	.	.	rs141719500,COSM1329928,COSM3636654	1/3	PASS	ENST00000543018	Transcript	.	.	ENSG00000220575	48956	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.95)	.	deleterious_low_confidence(0)	0,1,1	.	HTR5A-AS1	HGNC	B7Z8E6_HUMAN	.	UPI00019152D0	SNV	HTR5A-AS1,missense_variant,p.Pro26His,ENST00000395731,;HTR5A,missense_variant,p.Gly110Cys,ENST00000287907,;HTR5A-AS1,missense_variant,p.Pro26His,ENST00000543018,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;	331	25	13	SUCCESS
FBXL18	80028	.	GRCh37	7	5541166	5541166	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	81	0	ENST00000382368.3:c.734A>T	p.Glu245Val	p.E245V	ENST00000382368	NM_024963.4	245	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43546.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTCCTGG	NONE	.	.	hmmpanther:PTHR23125:SF280,hmmpanther:PTHR23125	.	.	ENSP00000371805	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000382368	Transcript	.	.	ENSG00000155034	21874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	FXL18_HUMAN	FBXL18	HGNC	.	.	UPI000020EA59	SNV	FBXL18,missense_variant,p.Glu245Val,ENST00000453700,;FBXL18,missense_variant,p.Glu129Val,ENST00000458142,;FBXL18,missense_variant,p.Glu245Val,ENST00000382368,;FBXL18,missense_variant,p.Glu245Val,ENST00000415009,;	858	81	64	SUCCESS
FAM220A	84792	.	GRCh37	7	6370320	6370355	+	inframe_deletion	In_Frame_Del	DEL	GCAGTCGTGACACCCGAGGCTCTCCTTTGGGGCACT	GCAGTCGTGACACCCGAGGCTCTCCTTTGGGGCACT	-	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	GCAGTCGTGACACCCGAGGCTCTCCTTTGGGGCACT	GCAGTCGTGACACCCGAGGCTCTCCTTTGGGGCACT	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	99	0	ENST00000313324.4:c.431_466del	p.Gln144_Leu155del	p.Q144_L155del	ENST00000313324	NM_001037163.1	144	cAGTGCCCCAAAGGAGAGCCTCGGGTGTCACGACTGCca/cca	0	.	.	.	.	.	-	QCPKGEPRVSRLP/P	protein_coding	YES	CCDS34599.1	431-466	VARSCANI*|PINDEL	.	GGCGTGGCAGTCGTGACACCCGAGGCTCTCCTTTGGGGCACTGTCCT	NONE	.	.	hmmpanther:PTHR31980,Pfam_domain:PF15487	.	.	ENSP00000317289	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313324	Transcript	.	.	ENSG00000178397	22422	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F220A_HUMAN	FAM220A	HGNC	E9PQY0_HUMAN,E9PQC6_HUMAN	.	UPI000013F4F0	deletion	FAM220A,inframe_deletion,p.Gln144_Leu155del,ENST00000313324,;FAM220A,downstream_gene_variant,,ENST00000524898,;FAM220A,downstream_gene_variant,,ENST00000578372,;FAM220A,downstream_gene_variant,,ENST00000530143,;FAM220A,downstream_gene_variant,,ENST00000533877,;	899-934	99	42	SUCCESS
ZNF680	340252	.	GRCh37	7	63982871	63982872	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	47	0	ENST00000309683.6:c.260_261del	p.Tyr87PhefsTer5	p.Y87Ffs*5	ENST00000309683	NM_178558.4	87	tAT/t	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS34644.1	260-261	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGAGAATATATA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117	.	.	ENSP00000309330	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309683	Transcript	.	.	ENSG00000173041	26897	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN680_HUMAN	ZNF680	HGNC	.	.	UPI000019980A	deletion	ZNF680,frameshift_variant,p.Tyr87PhefsTer5,ENST00000309683,;ZNF680,downstream_gene_variant,,ENST00000447137,;ZNF680,non_coding_transcript_exon_variant,,ENST00000476563,;ZNF680,non_coding_transcript_exon_variant,,ENST00000470847,;	412-413	47	51	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72663972	72663972	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs782048726	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	40	144	0	ENST00000425256.1:n.929A>T		p.*310*	ENST00000425256				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCATGGAAC	NONE	.	.	.	.	.	.	.	11/13	.	.	.	.	.	.	.	.	rs782048726	11/13	PASS	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000449689,;	929	144	89	SUCCESS
CACNA2D1	781	.	GRCh37	7	81964563	81964563	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	80	1	ENST00000356253.5:c.182A>T	p.Tyr61Phe	p.Y61F	ENST00000356253		61	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS5598.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATAAATC	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	3/39	.	.	.	.	.	.	.	.	.	3/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.25)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Tyr61Phe,ENST00000356253,;CACNA2D1,missense_variant,p.Tyr61Phe,ENST00000356860,;CACNA2D1,missense_variant,p.Tyr61Phe,ENST00000423588,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000484706,;	521	81	62	SUCCESS
TRRAP	8295	.	GRCh37	7	98552830	98552830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	32	76	0	ENST00000359863.4:c.5819A>T	p.Gln1940Leu	p.Q1940L	ENST00000359863	NM_001244580.1	1940	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS59066.1	5819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCAGATGC	NONE	.	.	hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Superfamily_domains:SSF48371	.	.	ENSP00000352925	.	40/72	.	.	.	.	.	.	.	.	.	40/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,missense_variant,p.Gln1922Leu,ENST00000355540,;TRRAP,missense_variant,p.Gln1921Leu,ENST00000446306,;TRRAP,missense_variant,p.Gln1662Leu,ENST00000456197,;TRRAP,missense_variant,p.Gln1940Leu,ENST00000359863,;	6028	76	62	SUCCESS
CYP3A5	1577	.	GRCh37	7	99270218	99270218	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	138	0	ENST00000222982.4:c.303C>A	p.Val101=	p.V101=	ENST00000222982	NM_000777.3	101	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5672.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAGACAGA	NONE	.	.	Prints_domain:PR01689,Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24302:SF3,hmmpanther:PTHR24302	.	.	ENSP00000222982	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,synonymous_variant,p.%3D,ENST00000222982,;CYP3A5,synonymous_variant,p.%3D,ENST00000439761,;CYP3A5,synonymous_variant,p.%3D,ENST00000343703,;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;CYP3A5,downstream_gene_variant,,ENST00000489231,;CYP3A5,downstream_gene_variant,,ENST00000456417,;	403	138	123	SUCCESS
TMEM74	157753	.	GRCh37	8	109796877	109796877	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	106	127	0	ENST00000297459.3:c.451G>T	p.Ala151Ser	p.A151S	ENST00000297459	NM_153015.1	151	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6310.1	451	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCCTCTT	NONE	.	.	hmmpanther:PTHR16125:SF3,hmmpanther:PTHR16125	.	.	ENSP00000297459	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297459	Transcript	.	.	ENSG00000164841	26409	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.09)	.	tolerated(0.8)	.	TMM74_HUMAN	TMEM74	HGNC	.	.	UPI000006E80B	SNV	TMEM74,missense_variant,p.Ala151Ser,ENST00000297459,;TMEM74,intron_variant,,ENST00000518838,;	630	127	224	SUCCESS
TRHR	7201	.	GRCh37	8	110099964	110099964	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	10	74	1	ENST00000311762.2:c.223T>A	p.Leu75Met	p.L75M	ENST00000311762	NM_003301.5	75	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS6311.1	223	MUTECT|MUSE	.	TGGTCTTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF115,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000430711	.	2/3	.	.	.	.	.	.	.	.	COSM3884674	2/3	PASS	ENST00000518632	Transcript	1	.	ENSG00000174417	12299	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	TRFR_HUMAN	TRHR	HGNC	.	.	UPI0000050437	SNV	TRHR,missense_variant,p.Leu75Met,ENST00000311762,;TRHR,missense_variant,p.Leu75Met,ENST00000518632,;	574	75	128	SUCCESS
CSMD3	114788	.	GRCh37	8	113418769	113418769	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	81	157	0	ENST00000297405.5:c.5793C>A	p.Ser1931=	p.S1931=	ENST00000297405	NM_198123.1	1931	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6315.1	5793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAAGGAATC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	35/71	.	.	.	.	.	.	.	.	COSM1154917	35/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	6038	157	211	SUCCESS
MRPL13	28998	.	GRCh37	8	121444294	121444294	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	18	125	0	ENST00000306185.3:c.221A>G	p.Gln74Arg	p.Q74R	ENST00000306185	NM_014078.5	74	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS6332.1	221	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTTGTTCC	NONE	.	.	hmmpanther:PTHR11545:SF6,hmmpanther:PTHR11545,Pfam_domain:PF00572,TIGRFAM_domain:TIGR01066,Gene3D:3.90.1180.10,PIRSF_domain:PIRSF002181,Superfamily_domains:SSF52161	.	.	ENSP00000306548	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000306185	Transcript	.	.	ENSG00000172172	14278	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.725)	.	tolerated(0.4)	.	RM13_HUMAN	MRPL13	HGNC	H0YAX3_HUMAN,E5RJI7_HUMAN	.	UPI00001342CD	SNV	MRPL13,missense_variant,p.Gln74Arg,ENST00000306185,;MRPL13,missense_variant,p.Gln50Arg,ENST00000518918,;MRPL13,intron_variant,,ENST00000518696,;MRPL13,intron_variant,,ENST00000520677,;	513	125	184	SUCCESS
ZNF596	169270	.	GRCh37	8	182347	182347	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs185339691	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	48	1	ENST00000308811.4:c.-141G>C		p.*47*	ENST00000308811	NM_173539.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5951.2	.	MUTECT|MUSE	.	GTACGGGCCCC	NONE	byCluster|by1000G	37	.	.	.	ENSP00000381613	.	.	.	.	.	.	.	.	.	.	rs185339691	.	PASS	ENST00000398612	Transcript	.	.	ENSG00000172748	27268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN596_HUMAN	ZNF596	HGNC	E5RJH7_HUMAN,E5RIL8_HUMAN,E5RHT8_HUMAN	.	UPI0000160DBF	SNV	ZNF596,5_prime_UTR_variant,,ENST00000320552,;ZNF596,5_prime_UTR_variant,,ENST00000308811,;ZNF596,intron_variant,,ENST00000521145,;ZNF596,upstream_gene_variant,,ENST00000518320,;ZNF596,upstream_gene_variant,,ENST00000521270,;ZNF596,upstream_gene_variant,,ENST00000518414,;ZNF596,upstream_gene_variant,,ENST00000522866,;ZNF596,upstream_gene_variant,,ENST00000398612,;RP5-855D21.3,upstream_gene_variant,,ENST00000609090,;RP5-855D21.1,downstream_gene_variant,,ENST00000606572,;RP5-855D21.2,upstream_gene_variant,,ENST00000610248,;RPL23AP53,upstream_gene_variant,,ENST00000606507,;RPL23AP53,upstream_gene_variant,,ENST00000606975,;ZNF596,upstream_gene_variant,,ENST00000521238,;ZNF596,5_prime_UTR_variant,,ENST00000523162,;ZNF596,non_coding_transcript_exon_variant,,ENST00000523418,;	.	49	29	SUCCESS
PXDNL	137902	.	GRCh37	8	52233381	52233381	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs201816215	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	67	0	ENST00000356297.4:c.4223G>C	p.Arg1408Pro	p.R1408P	ENST00000356297	NM_144651.4	1408	cGc/cCc	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS47855.1	4223	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCGCTCC	NONE	.	.	PROSITE_profiles:PS50184,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000348645	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.587)	.	tolerated(0.22)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Arg482Pro,ENST00000522933,;PXDNL,missense_variant,p.Arg1408Pro,ENST00000356297,;PXDNL,3_prime_UTR_variant,,ENST00000543296,;RP11-401H2.1,non_coding_transcript_exon_variant,,ENST00000521294,;PXDNL,3_prime_UTR_variant,,ENST00000522628,;PXDNL,non_coding_transcript_exon_variant,,ENST00000519183,;	4324	67	43	SUCCESS
IMPAD1	0	.	GRCh37	8	57892756	57892756	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	34	90	0	ENST00000262644.4:c.388A>G	p.Ile130Val	p.I130V	ENST00000262644	NM_017813.4	130	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6169.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAATCTGCA	NONE	.	.	Superfamily_domains:SSF56655,Pfam_domain:PF00459,Gene3D:3.30.540.10,hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF23	.	.	ENSP00000262644	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000262644	Transcript	1	.	ENSG00000104331	26019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	IMPA3_HUMAN	IMPAD1	HGNC	.	.	UPI000006DE7A	SNV	IMPAD1,missense_variant,p.Ile130Val,ENST00000262644,;IMPAD1,missense_variant,p.Ile55Val,ENST00000517461,;IMPAD1,upstream_gene_variant,,ENST00000520392,;	647	90	61	SUCCESS
RAPGEF1	2889	.	GRCh37	9	134585122	134585122	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	44	1	ENST00000372189.3:c.10+27670G>A		p.*4*	ENST00000372189	NM_005312.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48048.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCAGCAA	NONE	.	.	.	.	.	ENSP00000361264	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000372190	Transcript	.	.	ENSG00000107263	4568	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPGF1_HUMAN	RAPGEF1	HGNC	Q5JUE5_HUMAN	.	UPI0000074689	SNV	RAPGEF1,5_prime_UTR_variant,,ENST00000372190,;RAPGEF1,5_prime_UTR_variant,,ENST00000427994,;RAPGEF1,intron_variant,,ENST00000438647,;RAPGEF1,intron_variant,,ENST00000372195,;RAPGEF1,intron_variant,,ENST00000372189,;	108	45	28	SUCCESS
GFI1B	8328	.	GRCh37	9	135862139	135862139	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764276098	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	56	0	ENST00000339463.3:c.74C>T	p.Pro25Leu	p.P25L	ENST00000339463		25	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS6957.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCGCTCT	NONE	byFrequency	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF126	.	.	ENSP00000344782	.	6/11	.	.	.	.	.	.	.	.	rs764276098	6/11	PASS	ENST00000339463	Transcript	.	.	ENSG00000165702	4238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	GFI1B_HUMAN	GFI1B	HGNC	.	.	UPI000013E4EE	SNV	GFI1B,missense_variant,p.Pro25Leu,ENST00000372122,;GFI1B,missense_variant,p.Pro25Leu,ENST00000450530,;GFI1B,missense_variant,p.Pro25Leu,ENST00000339463,;GFI1B,missense_variant,p.Pro25Leu,ENST00000534944,;GFI1B,missense_variant,p.Pro25Leu,ENST00000372123,;GFI1B,missense_variant,p.Pro25Leu,ENST00000372124,;	893	56	31	SUCCESS
KCNT1	57582	.	GRCh37	9	138676396	138676396	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	105	0	ENST00000488444.2:c.2902T>A	p.Tyr968Asn	p.Y968N	ENST00000488444		968	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS35175.2	2959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTACATG	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	26/31	.	.	.	.	.	.	.	.	.	26/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.02)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Tyr946Asn,ENST00000486577,;KCNT1,missense_variant,p.Tyr966Asn,ENST00000490355,;KCNT1,missense_variant,p.Tyr968Asn,ENST00000263604,;KCNT1,missense_variant,p.Tyr954Asn,ENST00000491806,;KCNT1,missense_variant,p.Tyr987Asn,ENST00000298480,;KCNT1,missense_variant,p.Tyr942Asn,ENST00000487664,;KCNT1,missense_variant,p.Tyr987Asn,ENST00000371757,;KCNT1,missense_variant,p.Tyr968Asn,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;KCNT1,upstream_gene_variant,,ENST00000475008,;	3026	105	58	SUCCESS
FAM69B	0	.	GRCh37	9	139612124	139612124	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	25	0	ENST00000371692.4:c.159C>A	p.Tyr53Ter	p.Y53*	ENST00000371692	NM_152421.3	53	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS7004.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTACTCGGA	NONE	.	.	hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF3,Pfam_domain:PF14875	.	.	ENSP00000360757	.	2/5	.	.	.	.	.	.	.	.	COSM4163571	2/5	PASS	ENST00000371692	Transcript	.	.	ENSG00000165716	28290	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FA69B_HUMAN	FAM69B	HGNC	.	.	UPI000013E4F3	SNV	FAM69B,stop_gained,p.Tyr53Ter,ENST00000371692,;FAM69B,upstream_gene_variant,,ENST00000371691,;SNHG7,downstream_gene_variant,,ENST00000414282,;	255	25	23	SUCCESS
FREM1	158326	.	GRCh37	9	14816776	14816776	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	56	0	ENST00000380880.3:c.2640G>T	p.Glu880Asp	p.E880D	ENST00000380880		880	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS47952.1	2640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCTCAAC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24	.	.	ENSP00000412940	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.02)	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,missense_variant,p.Glu881Asp,ENST00000380881,;FREM1,missense_variant,p.Glu880Asp,ENST00000380880,;FREM1,missense_variant,p.Glu880Asp,ENST00000422223,;FREM1,missense_variant,p.Glu880Asp,ENST00000380875,;	3456	56	37	SUCCESS
GNE	10020	.	GRCh37	9	36246477	36246477	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	20	43	0	ENST00000377902.5:c.167A>G	p.Asn56Ser	p.N56S	ENST00000377902	NM_001190383.1	56	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS47965.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTATTTCTA	NONE	.	.	TIGRFAM_domain:TIGR03568,Gene3D:3.40.50.2000,Pfam_domain:PF02350,Superfamily_domains:SSF53756	.	.	ENSP00000379839	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000396594	Transcript	.	.	ENSG00000159921	23657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.43)	.	GLCNE_HUMAN	GNE	HGNC	.	.	UPI00002113D6	SNV	GNE,missense_variant,p.Asn56Ser,ENST00000539815,;GNE,missense_variant,p.Asn56Ser,ENST00000377902,;GNE,missense_variant,p.Asn51Ser,ENST00000543356,;GNE,missense_variant,p.Asn87Ser,ENST00000396594,;GNE,missense_variant,p.Asn56Ser,ENST00000447283,;GNE,splice_region_variant,,ENST00000539208,;CLTA,intron_variant,,ENST00000464497,;	372	43	30	SUCCESS
KDM4C	23081	.	GRCh37	9	6986628	6986628	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	94	0	ENST00000381309.3:c.1639G>C	p.Val547Leu	p.V547L	ENST00000381309	NM_015061.3	547	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS6471.1	1639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGTCCCC	NONE	.	.	hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694	.	.	ENSP00000370710	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.34)	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,missense_variant,p.Val547Leu,ENST00000381306,;KDM4C,missense_variant,p.Val547Leu,ENST00000381309,;KDM4C,missense_variant,p.Val569Leu,ENST00000535193,;KDM4C,missense_variant,p.Val547Leu,ENST00000543771,;KDM4C,missense_variant,p.Val366Leu,ENST00000536108,;KDM4C,missense_variant,p.Val234Leu,ENST00000428870,;KDM4C,intron_variant,,ENST00000442236,;KDM4C,non_coding_transcript_exon_variant,,ENST00000494570,;KDM4C,3_prime_UTR_variant,,ENST00000438023,;	2204	94	52	SUCCESS
TRPM3	80036	.	GRCh37	9	73442764	73442764	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	73	0	ENST00000377110.3:c.972A>T		p.X324_splice	ENST00000377110		324	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43835.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTGTGTT	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	.	.	ENSP00000366314	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000377110	Transcript	.	.	ENSG00000083067	17992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,synonymous_variant,p.%3D,ENST00000377111,;TRPM3,synonymous_variant,p.%3D,ENST00000377106,;TRPM3,synonymous_variant,p.%3D,ENST00000361823,;TRPM3,synonymous_variant,p.%3D,ENST00000360823,;TRPM3,synonymous_variant,p.%3D,ENST00000377101,;TRPM3,synonymous_variant,p.%3D,ENST00000358082,;TRPM3,synonymous_variant,p.%3D,ENST00000396292,;TRPM3,synonymous_variant,p.%3D,ENST00000396283,;TRPM3,synonymous_variant,p.%3D,ENST00000396280,;TRPM3,synonymous_variant,p.%3D,ENST00000423814,;TRPM3,synonymous_variant,p.%3D,ENST00000408909,;TRPM3,synonymous_variant,p.%3D,ENST00000357533,;TRPM3,synonymous_variant,p.%3D,ENST00000377110,;TRPM3,synonymous_variant,p.%3D,ENST00000377105,;TRPM3,synonymous_variant,p.%3D,ENST00000396285,;TRPM3,non_coding_transcript_exon_variant,,ENST00000354500,;	1216	73	78	SUCCESS
TRPM3	80036	.	GRCh37	9	73479369	73479369	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	46	0	ENST00000377110.3:c.236C>G	p.Pro79Arg	p.P79R	ENST00000377110		79	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS43835.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGGTATG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	.	.	ENSP00000366314	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000377110	Transcript	.	.	ENSG00000083067	17992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious(0)	.	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,missense_variant,p.Pro79Arg,ENST00000377111,;TRPM3,missense_variant,p.Pro81Arg,ENST00000423814,;TRPM3,missense_variant,p.Pro81Arg,ENST00000357533,;TRPM3,missense_variant,p.Pro79Arg,ENST00000377110,;TRPM3,5_prime_UTR_variant,,ENST00000377106,;TRPM3,5_prime_UTR_variant,,ENST00000361823,;TRPM3,5_prime_UTR_variant,,ENST00000377101,;TRPM3,5_prime_UTR_variant,,ENST00000360823,;TRPM3,5_prime_UTR_variant,,ENST00000396283,;TRPM3,5_prime_UTR_variant,,ENST00000377105,;TRPM3,upstream_gene_variant,,ENST00000377097,;TRPM3,upstream_gene_variant,,ENST00000358082,;TRPM3,upstream_gene_variant,,ENST00000396280,;TRPM3,upstream_gene_variant,,ENST00000396292,;TRPM3,upstream_gene_variant,,ENST00000408909,;TRPM3,upstream_gene_variant,,ENST00000396285,;TRPM3,non_coding_transcript_exon_variant,,ENST00000437699,;TRPM3,non_coding_transcript_exon_variant,,ENST00000354500,;	480	46	36	SUCCESS
PRUNE2	158471	.	GRCh37	9	79322771	79322771	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	63	0	ENST00000376718.3:c.4419G>A	p.Glu1473=	p.E1473=	ENST00000376718	NM_015225.2	1473	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS47982.1	4419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCTCTAG	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,synonymous_variant,p.%3D,ENST00000426088,;PRUNE2,synonymous_variant,p.%3D,ENST00000376718,;PRUNE2,synonymous_variant,p.%3D,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	4543	63	35	SUCCESS
PSAT1	29968	.	GRCh37	9	80923477	80923477	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	35	0	ENST00000376588.3:c.718T>C	p.Tyr240His	p.Y240H	ENST00000376588	NM_058179.3	240	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS6660.1	718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTACAAC	NONE	.	.	HAMAP:MF_00160,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF17,Pfam_domain:PF00266,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01364,PIRSF_domain:PIRSF000525,Superfamily_domains:SSF53383	.	.	ENSP00000365773	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000376588	Transcript	.	.	ENSG00000135069	19129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.12)	.	SERC_HUMAN	PSAT1	HGNC	B4DHQ3_HUMAN,A9LS35_HUMAN	.	UPI0000001C03	SNV	PSAT1,missense_variant,p.Tyr240His,ENST00000376588,;PSAT1,missense_variant,p.Tyr240His,ENST00000347159,;	786	35	27	SUCCESS
ARMCX1	51309	.	GRCh37	X	100808723	100808723	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	34	0	ENST00000372829.3:c.810C>A	p.Ala270=	p.A270=	ENST00000372829	NM_016608.1	270	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14487.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCCCTTAA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,Pfam_domain:PF04826,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF14,PROSITE_profiles:PS50176	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,synonymous_variant,p.%3D,ENST00000372829,;	1181	34	31	SUCCESS
ARMCX1	51309	.	GRCh37	X	100808724	100808724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	34	0	ENST00000372829.3:c.811C>A	p.Leu271Ile	p.L271I	ENST00000372829	NM_016608.1	271	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS14487.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCTTAAT	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,Pfam_domain:PF04826,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF14,PROSITE_profiles:PS50176	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,missense_variant,p.Leu271Ile,ENST00000372829,;	1182	34	31	SUCCESS
RHOXF1	158800	.	GRCh37	X	119243261	119243261	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	32	58	0	ENST00000217999.2:c.445-1G>C		p.X149_splice	ENST00000217999	NM_139282.2	149		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14593.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACCTACAA	NONE	.	.	.	.	.	ENSP00000217999	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000217999	Transcript	.	.	ENSG00000101883	29993	.	.	HIGH	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHXF1_HUMAN	RHOXF1	HGNC	.	.	UPI0000046608	SNV	RHOXF1,splice_acceptor_variant,,ENST00000217999,;RP4-755D9.1,intron_variant,,ENST00000553843,;	.	58	36	SUCCESS
GPR119	139760	.	GRCh37	X	129518890	129518890	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	31	50	0	ENST00000276218.2:c.532A>T	p.Met178Leu	p.M178L	ENST00000276218	NM_178471.2	178	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS14625.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATGGCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF7,hmmpanther:PTHR22750,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000276218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000276218	Transcript	.	.	ENSG00000147262	19060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	GP119_HUMAN	GPR119	HGNC	.	.	UPI000003AFD2	SNV	GPR119,missense_variant,p.Met178Leu,ENST00000276218,;	622	50	37	SUCCESS
DMD	1756	.	GRCh37	X	33229618	33229618	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	33	52	1	ENST00000357033.4:c.-189C>A		p.*63*	ENST00000357033	NM_004007.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14233.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGGGGAA	NONE	.	.	.	.	.	ENSP00000354923	.	1/79	.	.	.	.	.	.	.	.	.	1/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,5_prime_UTR_variant,,ENST00000357033,;DMD,intron_variant,,ENST00000288447,;DMD,upstream_gene_variant,,ENST00000448370,;DMD,upstream_gene_variant,,ENST00000420596,;DMD,non_coding_transcript_exon_variant,,ENST00000488902,;DMD,upstream_gene_variant,,ENST00000463609,;	19	53	40	SUCCESS
TBC1D25	4943	.	GRCh37	X	48418242	48418242	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782207855	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	47	71	0	ENST00000376771.4:c.946G>T	p.Asp316Tyr	p.D316Y	ENST00000376771	NM_002536.2	316	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS35242.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGACCTG	NONE	byFrequency	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF189,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000365962	.	6/6	.	.	.	.	.	.	.	.	rs782207855,COSM1644038	6/6	PASS	ENST00000376771	Transcript	.	.	ENSG00000068354	8092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0.04)	0,1	TBC25_HUMAN	TBC1D25	HGNC	B4DF03_HUMAN,B4DE92_HUMAN	.	UPI0000160685	SNV	TBC1D25,missense_variant,p.Asp316Tyr,ENST00000376771,;TBC1D25,missense_variant,p.Asp62Tyr,ENST00000537536,;TBC1D25,downstream_gene_variant,,ENST00000418627,;snoU13,downstream_gene_variant,,ENST00000459609,;TBC1D25,downstream_gene_variant,,ENST00000476141,;TBC1D25,downstream_gene_variant,,ENST00000494495,;TBC1D25,3_prime_UTR_variant,,ENST00000481090,;	1287	71	57	SUCCESS
CXorf67	0	.	GRCh37	X	51151186	51151186	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	52	67	0	ENST00000342995.2:c.1318C>A	p.Pro440Thr	p.P440T	ENST00000342995		440	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCGAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	COSM3844960,COSM3844961	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.917)	.	tolerated(0.8)	1,1	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,missense_variant,p.Pro440Thr,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	1420	67	65	SUCCESS
RPS4Y1	6192	.	GRCh37	Y	2722723	2722724	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CT	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	87	130	0	ENST00000250784.8:c.444_445dup	p.Tyr149SerfsTer9	p.Y149Sfs*9	ENST00000250784	NM_001008.3	148	cgc/cgCTc	0	.	.	.	.	.	CT	R/RX	protein_coding	YES	CCDS14773.1	443-444	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCCGCTACC	NONE	.	.	hmmpanther:PTHR11581,hmmpanther:PTHR11581:SF8,Pfam_domain:PF00900,PIRSF_domain:PIRSF002116,HAMAP:MF_00485	.	.	ENSP00000250784	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000250784	Transcript	.	.	ENSG00000129824	10425	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RS4Y1_HUMAN	RPS4Y1	HGNC	.	.	UPI0000167B84	insertion	RPS4Y1,frameshift_variant,p.Tyr158SerfsTer9,ENST00000430575,;RPS4Y1,frameshift_variant,p.Tyr149SerfsTer9,ENST00000250784,;RPS4Y1,non_coding_transcript_exon_variant,,ENST00000477725,;RPS4Y1,upstream_gene_variant,,ENST00000515575,;	582-583	130	179	SUCCESS
HPS6	79803	.	GRCh37	10	103827340	103827340	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	30	0	ENST00000299238.5:c.2109G>T	p.Glu703Asp	p.E703D	ENST00000299238	NM_024747.5	703	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS7527.1	2109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476	.	.	ENSP00000299238	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299238	Transcript	1	.	ENSG00000166189	18817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(1)	.	HPS6_HUMAN	HPS6	HGNC	.	.	UPI000000D7EB	SNV	HPS6,missense_variant,p.Glu703Asp,ENST00000299238,;	2194	30	42	SUCCESS
ZNF511	118472	.	GRCh37	10	135122613	135122613	+	intron_variant	Intron	SNP	A	A	C	rs765303789	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	77	0	ENST00000359035.3:c.153+13A>C		p.*51*	ENST00000359035				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7677.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAAAGAGG	NONE	.	.	.	.	.	ENSP00000355251	.	.	.	.	.	.	.	.	.	.	rs765303789	.	PASS	ENST00000361518	Transcript	.	.	ENSG00000198546	28445	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN511_HUMAN	ZNF511	HGNC	.	.	UPI000006FF8A	SNV	TUBGCP2,5_prime_UTR_variant,,ENST00000368563,;ZNF511,intron_variant,,ENST00000361518,;ZNF511,intron_variant,,ENST00000359035,;TUBGCP2,upstream_gene_variant,,ENST00000417178,;ZNF511,upstream_gene_variant,,ENST00000368554,;TUBGCP2,non_coding_transcript_exon_variant,,ENST00000470829,;ZNF511,upstream_gene_variant,,ENST00000463816,;ZNF511,intron_variant,,ENST00000482153,;TUBGCP2,intron_variant,,ENST00000482278,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;	.	77	57	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37455583	37455583	+	synonymous_variant	Silent	SNP	G	G	T	rs41276132	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	88	279	0	ENST00000361713.1:c.1947G>T	p.Ala649=	p.A649=	ENST00000361713	NM_052997.2	649	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7193.1	1947	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGCATCA	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11	.	.	ENSP00000354432	.	19/36	.	.	.	.	.	.	.	.	rs41276132,COSM4144665	19/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,synonymous_variant,p.%3D,ENST00000374660,;ANKRD30A,synonymous_variant,p.%3D,ENST00000361713,;ANKRD30A,intron_variant,,ENST00000602533,;	2046	280	317	SUCCESS
LRRC18	474354	.	GRCh37	10	50121829	50121829	+	synonymous_variant	Silent	SNP	G	G	A	rs144747704	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	73	1	ENST00000298124.3:c.372C>T	p.Arg124=	p.R124=	ENST00000298124		124	cgC/cgT	0	A:0.0016	A:0.0023	.	A:0	.	A	R	protein_coding	YES	CCDS31197.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGCGGAT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF22,PROSITE_profiles:PS51450	A:0	A:0.0002	ENSP00000363275	A:0	1/2	.	.	.	.	.	.	.	.	rs144747704,COSM288112	1/2	PASS	ENST00000374160	Transcript	.	A:0.0006	ENSG00000165383	23199	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	LRC18_HUMAN	LRRC18	HGNC	.	.	UPI00001F98A9	SNV	LRRC18,synonymous_variant,p.%3D,ENST00000298124,;LRRC18,synonymous_variant,p.%3D,ENST00000374160,;WDFY4,intron_variant,,ENST00000413659,;WDFY4,intron_variant,,ENST00000325239,;WDFY4,intron_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	449	74	87	SUCCESS
MUC6	4588	.	GRCh37	11	1017131	1017131	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	127	0	ENST00000421673.2:c.5670C>A	p.His1890Gln	p.H1890Q	ENST00000421673	NM_005961.2	1890	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS44513.1	5670	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGTGGGT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264	.	.	ENSP00000406861	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.917)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.His1890Gln,ENST00000421673,;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;AP2A2,downstream_gene_variant,,ENST00000448903,;	5721	127	100	SUCCESS
GUCY1A2	2977	.	GRCh37	11	106810405	106810405	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	51	154	0	ENST00000526355.2:c.987C>G	p.Phe329Leu	p.F329L	ENST00000526355	NM_000855.2	329	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS58170.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGAAAGG	NONE	.	.	hmmpanther:PTHR11920:SF276,hmmpanther:PTHR11920,Pfam_domain:PF07701	.	.	ENSP00000282249	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000282249	Transcript	.	.	ENSG00000152402	4684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	GCYA2_HUMAN	GUCY1A2	HGNC	.	.	UPI000002A79C	SNV	GUCY1A2,missense_variant,p.Phe329Leu,ENST00000282249,;GUCY1A2,missense_variant,p.Phe329Leu,ENST00000526355,;GUCY1A2,missense_variant,p.Phe329Leu,ENST00000347596,;	1377	154	140	SUCCESS
ELMOD1	55531	.	GRCh37	11	107488841	107488841	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs372963905	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	91	0	ENST00000265840.7:c.-75C>G		p.*25*	ENST00000265840	NM_018712.3			0	G:0.0022	G:0.0015	.	G:0	.	G	.	protein_coding	YES	CCDS44723.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACTTTGA	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0	ENSP00000265840	G:0	2/12	.	.	.	.	.	.	.	.	rs372963905	2/12	PASS	ENST00000265840	Transcript	.	G:0.0004	ENSG00000110675	25334	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ELMD1_HUMAN	ELMOD1	HGNC	E9PLM8_HUMAN	.	UPI000006DF30	SNV	ELMOD1,5_prime_UTR_variant,,ENST00000443271,;ELMOD1,5_prime_UTR_variant,,ENST00000531234,;ELMOD1,5_prime_UTR_variant,,ENST00000265840,;ELMOD1,non_coding_transcript_exon_variant,,ENST00000524378,;ELMOD1,non_coding_transcript_exon_variant,,ENST00000527036,;	191	91	81	SUCCESS
NXPE2	120406	.	GRCh37	11	114569227	114569227	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	139	0	ENST00000389586.4:c.593A>C	p.Glu198Ala	p.E198A	ENST00000389586	NM_182495.5	198	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS44738.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGAAGGGG	NONE	.	.	hmmpanther:PTHR16165:SF6,hmmpanther:PTHR16165,Pfam_domain:PF06312	.	.	ENSP00000374237	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000389586	Transcript	.	.	ENSG00000204361	26331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NXPE2_HUMAN	NXPE2	HGNC	.	.	UPI0001662547	SNV	NXPE2,missense_variant,p.Glu198Ala,ENST00000375475,;NXPE2,missense_variant,p.Glu198Ala,ENST00000389586,;	783	139	105	SUCCESS
C2CD2L	9854	.	GRCh37	11	118980899	118980899	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	97	0	ENST00000336702.3:c.440A>G	p.Glu147Gly	p.E147G	ENST00000336702	NM_014807.3	147	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8413.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGAGCATA	NONE	.	.	hmmpanther:PTHR21119:SF4,hmmpanther:PTHR21119	.	.	ENSP00000338885	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000336702	Transcript	.	.	ENSG00000172375	29000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.37)	.	C2C2L_HUMAN	C2CD2L	HGNC	.	.	UPI0000192105	SNV	C2CD2L,missense_variant,p.Glu147Gly,ENST00000336702,;C2CD2L,upstream_gene_variant,,ENST00000528586,;DPAGT1,upstream_gene_variant,,ENST00000409993,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;C2CD2L,upstream_gene_variant,,ENST00000525598,;	799	97	67	SUCCESS
C2CD2L	9854	.	GRCh37	11	118986773	118986773	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	31	0	ENST00000336702.3:c.1931G>T	p.Gly644Val	p.G644V	ENST00000336702	NM_014807.3	644	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS8413.1	1931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCACTA	NONE	.	.	hmmpanther:PTHR21119:SF4,hmmpanther:PTHR21119	.	.	ENSP00000338885	.	14/14	.	.	.	.	.	.	.	.	COSM4018472	14/14	PASS	ENST00000336702	Transcript	.	.	ENSG00000172375	29000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	C2C2L_HUMAN	C2CD2L	HGNC	.	.	UPI0000192105	SNV	C2CD2L,missense_variant,p.Gly644Val,ENST00000336702,;C2CD2L,3_prime_UTR_variant,,ENST00000528586,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000525598,;C2CD2L,downstream_gene_variant,,ENST00000529874,;C2CD2L,downstream_gene_variant,,ENST00000533458,;	2290	31	25	SUCCESS
FAR1	84188	.	GRCh37	11	13750208	13750208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	40	0	ENST00000354817.3:c.1435T>C	p.Trp479Arg	p.W479R	ENST00000354817	NM_032228.5	479	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS7813.1	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTGGCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11011	.	.	ENSP00000346874	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000354817	Transcript	.	.	ENSG00000197601	26222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0)	.	FACR1_HUMAN	FAR1	HGNC	E9PPB8_HUMAN	.	UPI00000477EF	SNV	FAR1,missense_variant,p.Trp479Arg,ENST00000354817,;FAR1,missense_variant,p.Trp103Arg,ENST00000532502,;	1579	40	48	SUCCESS
PTPN5	84867	.	GRCh37	11	18754797	18754797	+	synonymous_variant	Silent	SNP	G	G	T	rs367543225	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	43	0	ENST00000358540.2:c.1203C>A	p.Ile401=	p.I401=	ENST00000358540	NM_006906.1	401	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS7845.1	1203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	TCCTCGATGTT	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799	.	.	ENSP00000351342	.	11/15	.	.	.	.	.	.	.	.	rs367543225	11/15	PASS	ENST00000358540	Transcript	.	.	ENSG00000110786	9657	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	PTN5_HUMAN	PTPN5	HGNC	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN	.	UPI00001AE663	SNV	PTPN5,synonymous_variant,p.%3D,ENST00000396167,;PTPN5,synonymous_variant,p.%3D,ENST00000396171,;PTPN5,synonymous_variant,p.%3D,ENST00000358540,;PTPN5,synonymous_variant,p.%3D,ENST00000396168,;PTPN5,synonymous_variant,p.%3D,ENST00000477854,;PTPN5,synonymous_variant,p.%3D,ENST00000396170,;PTPN5,upstream_gene_variant,,ENST00000396166,;RP11-1081L13.4,intron_variant,,ENST00000527285,;	1634	43	29	SUCCESS
SCGB1C1	147199	.	GRCh37	11	194445	194445	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	66	0	ENST00000342878.2:c.283G>A	p.Ala95Thr	p.A95T	ENST00000342878	NM_145651.2	95	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41581.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTGCCTAA	NONE	.	.	PROSITE_profiles:PS51311	.	.	ENSP00000344545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000342878	Transcript	.	.	ENSG00000188076	18394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	deleterious(0.01)	.	SG1C1_HUMAN	SCGB1C1	HGNC	.	.	UPI000014156C	SNV	SCGB1C1,missense_variant,p.Ala95Thr,ENST00000342878,;BET1L,intron_variant,,ENST00000410108,;ODF3,upstream_gene_variant,,ENST00000342593,;ODF3,upstream_gene_variant,,ENST00000525282,;ODF3,upstream_gene_variant,,ENST00000325113,;ODF3,upstream_gene_variant,,ENST00000531679,;	303	66	54	SUCCESS
PHRF1	57661	.	GRCh37	11	609135	609135	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	23	0	ENST00000264555.5:c.3679C>G	p.His1227Asp	p.H1227D	ENST00000264555	NM_020901.2	1227	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS44507.1	3676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCACATGTC	NONE	.	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	.	ENSP00000410626	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.66)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.His1227Asp,ENST00000264555,;PHRF1,missense_variant,p.His1225Asp,ENST00000413872,;PHRF1,missense_variant,p.His1223Asp,ENST00000533464,;PHRF1,missense_variant,p.His1226Asp,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,missense_variant,p.His1227Asp,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000525750,;	3769	23	25	SUCCESS
DPP3	10072	.	GRCh37	11	66259030	66259030	+	synonymous_variant	Silent	SNP	C	C	A	rs781635422	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	46	0	ENST00000541961.1:c.864C>A	p.Gly288=	p.G288=	ENST00000541961		288	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8141.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCTCCAT	NONE	byFrequency	.	hmmpanther:PTHR23422,hmmpanther:PTHR23422:SF10,Pfam_domain:PF03571,PIRSF_domain:PIRSF007828	.	.	ENSP00000353701	.	8/18	.	.	.	.	.	.	.	.	rs781635422	8/18	PASS	ENST00000360510	Transcript	.	.	ENSG00000254986	3008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP3_HUMAN	DPP3	HGNC	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN	.	UPI000012983B	SNV	DPP3,synonymous_variant,p.%3D,ENST00000360510,;DPP3,synonymous_variant,p.%3D,ENST00000530165,;DPP3,synonymous_variant,p.%3D,ENST00000532677,;DPP3,synonymous_variant,p.%3D,ENST00000453114,;DPP3,synonymous_variant,p.%3D,ENST00000541961,;DPP3,synonymous_variant,p.%3D,ENST00000531863,;DPP3,downstream_gene_variant,,ENST00000532019,;DPP3,downstream_gene_variant,,ENST00000526515,;DPP3,downstream_gene_variant,,ENST00000531354,;DPP3,downstream_gene_variant,,ENST00000533725,;DPP3,downstream_gene_variant,,ENST00000544603,;DPP3,upstream_gene_variant,,ENST00000533799,;DPP3,upstream_gene_variant,,ENST00000525738,;DPP3,downstream_gene_variant,,ENST00000531272,;DPP3,upstream_gene_variant,,ENST00000526250,;DPP3,upstream_gene_variant,,ENST00000526667,;	929	46	49	SUCCESS
ZNF215	7762	.	GRCh37	11	6964783	6964783	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	132	0	ENST00000278319.5:c.623T>A	p.Leu208Gln	p.L208Q	ENST00000278319	NM_013250.2	208	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS7775.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTACTTT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000278319	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000278319	Transcript	.	.	ENSG00000149054	13007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	tolerated(0.07)	.	ZN215_HUMAN	ZNF215	HGNC	.	.	UPI000013DB6D	SNV	ZNF215,missense_variant,p.Leu208Gln,ENST00000414517,;ZNF215,missense_variant,p.Leu208Gln,ENST00000278319,;ZNF215,missense_variant,p.Leu208Gln,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000532533,;ZNF215,non_coding_transcript_exon_variant,,ENST00000527171,;ZNF215,intron_variant,,ENST00000529755,;	1211	132	96	SUCCESS
ANO1	55107	.	GRCh37	11	69995875	69995875	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	126	0	ENST00000355303.5:c.1318C>T	p.Leu440Phe	p.L440F	ENST00000355303	NM_018043.5	440	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44663.1	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCTCACG	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13,Pfam_domain:PF04547	.	.	ENSP00000347454	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000355303	Transcript	.	.	ENSG00000131620	21625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANO1_HUMAN	ANO1	HGNC	.	.	UPI000013CE03	SNV	ANO1,missense_variant,p.Leu412Phe,ENST00000316296,;ANO1,missense_variant,p.Leu324Phe,ENST00000398543,;ANO1,missense_variant,p.Leu440Phe,ENST00000355303,;ANO1,missense_variant,p.Leu175Phe,ENST00000531349,;ANO1,missense_variant,p.Leu17Phe,ENST00000531300,;ANO1,missense_variant,p.Leu440Phe,ENST00000538023,;ANO1,missense_variant,p.Leu324Phe,ENST00000530676,;RP11-805J14.3,downstream_gene_variant,,ENST00000530525,;	1623	126	100	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73020736	73020736	+	synonymous_variant	Silent	SNP	C	C	T	rs760175493	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	36	0	ENST00000263674.3:c.1053C>T	p.Cys351=	p.C351=	ENST00000263674	NM_014786.3	351	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS8221.1	1053	RADIA|VARSCANS	.	CCCTGCGTCCC	NONE	byFrequency	.	hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	rs760175493	1/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,synonymous_variant,p.%3D,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,;	1403	36	36	SUCCESS
INTS4	92105	.	GRCh37	11	77692543	77692543	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	51	0	ENST00000534064.1:c.326G>A	p.Cys109Tyr	p.C109Y	ENST00000534064	NM_033547.3	109	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31644.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGCAGTCT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0	.	.	ENSP00000434466	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000534064	Transcript	.	.	ENSG00000149262	25048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.332)	.	deleterious(0.05)	.	INT4_HUMAN	INTS4	HGNC	.	.	UPI00001FB00A	SNV	INTS4,missense_variant,p.Cys109Tyr,ENST00000529807,;INTS4,missense_variant,p.Cys109Tyr,ENST00000534064,;INTS4,missense_variant,p.Cys109Tyr,ENST00000433818,;INTS4,3_prime_UTR_variant,,ENST00000524766,;INTS4,3_prime_UTR_variant,,ENST00000534408,;	361	51	51	SUCCESS
C11orf82	0	.	GRCh37	11	82644353	82644353	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs369733646	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	75	0	ENST00000329143.3:c.1070A>G	p.Asn357Ser	p.N357S	ENST00000329143		357	aAt/aGt	0	G:0	.	.	.	.	G	N/S	protein_coding	YES	CCDS8263.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCAATAACA	NONE	byCluster	.	.	.	G:0.0001	ENSP00000435421	.	6/6	.	.	.	.	.	.	.	.	rs369733646,COSM330847	6/6	PASS	ENST00000533655	Transcript	.	.	ENSG00000165490	26351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.48)	0,1	NOXIN_HUMAN	C11orf82	HGNC	E9PQP9_HUMAN,E9PN94_HUMAN,E9PLJ5_HUMAN,B4DMA1_HUMAN	.	UPI00001AF966	SNV	C11orf82,missense_variant,p.Asn658Ser,ENST00000430323,;C11orf82,missense_variant,p.Asn357Ser,ENST00000329143,;C11orf82,missense_variant,p.Asn658Ser,ENST00000533655,;C11orf82,3_prime_UTR_variant,,ENST00000528759,;C11orf82,intron_variant,,ENST00000525361,;PRCP,intron_variant,,ENST00000534396,;C11orf82,downstream_gene_variant,,ENST00000528262,;C11orf82,downstream_gene_variant,,ENST00000524921,;C11orf82,downstream_gene_variant,,ENST00000532277,;C11orf82,downstream_gene_variant,,ENST00000532764,;C11orf82,downstream_gene_variant,,ENST00000525388,;C11orf82,downstream_gene_variant,,ENST00000532589,;C11orf82,downstream_gene_variant,,ENST00000533750,;C11orf82,downstream_gene_variant,,ENST00000528189,;	2185	75	76	SUCCESS
FAT3	120114	.	GRCh37	11	92577146	92577146	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755030491	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	109	0	ENST00000298047.6:c.10613G>A	p.Arg3538His	p.R3538H	ENST00000298047		3538	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	.	10613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGCGTGC	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	18/27	.	.	.	.	.	.	.	.	rs755030491,COSM3670920,COSM3670919,COSM3670918	18/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.005)	.	.	0,1,1,1	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Arg3538His,ENST00000298047,;FAT3,missense_variant,p.Arg3538His,ENST00000409404,;FAT3,missense_variant,p.Arg3388His,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000533797,;	10630	109	77	SUCCESS
PIWIL4	143689	.	GRCh37	11	94316706	94316706	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	44	127	0	ENST00000299001.6:c.606C>A	p.Cys202Ter	p.C202*	ENST00000299001	NM_152431.2	202	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS31656.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCATCCA	NONE	.	.	hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Superfamily_domains:SSF101690	.	.	ENSP00000299001	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000299001	Transcript	.	.	ENSG00000134627	18444	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,stop_gained,p.Cys202Ter,ENST00000299001,;PIWIL4,downstream_gene_variant,,ENST00000545603,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,stop_gained,p.Cys133Ter,ENST00000543336,;PIWIL4,stop_gained,p.Cys175Ter,ENST00000446230,;	817	127	102	SUCCESS
CHPT1	56994	.	GRCh37	12	102120301	102120301	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	18	12	0	ENST00000229266.3:c.1176+119A>G		p.*392*	ENST00000229266	NM_020244.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9086.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATATTTGA	NONE	.	.	.	.	.	ENSP00000229266	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000229266	Transcript	.	.	ENSG00000111666	17852	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHPT1_HUMAN	CHPT1	HGNC	.	.	UPI000003ED2B	SNV	CHPT1,3_prime_UTR_variant,,ENST00000549872,;CHPT1,intron_variant,,ENST00000229266,;SYCP3,downstream_gene_variant,,ENST00000392924,;SYCP3,downstream_gene_variant,,ENST00000266743,;SYCP3,downstream_gene_variant,,ENST00000392927,;CHPT1,3_prime_UTR_variant,,ENST00000552215,;CHPT1,intron_variant,,ENST00000546873,;CHPT1,intron_variant,,ENST00000552351,;CHPT1,intron_variant,,ENST00000549128,;SYCP3,downstream_gene_variant,,ENST00000478238,;CHPT1,downstream_gene_variant,,ENST00000552329,;SYCP3,downstream_gene_variant,,ENST00000478139,;	.	12	26	SUCCESS
TBX5	6910	.	GRCh37	12	114823367	114823367	+	synonymous_variant	Silent	SNP	C	C	A	rs376519728	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	84	0	ENST00000310346.4:c.669G>T	p.Thr223=	p.T223=	ENST00000310346	NM_000192.3	223	acG/acT	0	T:0	.	.	.	.	A	T	protein_coding	YES	CCDS9173.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGCGTGAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	T:0.0001	ENSP00000309913	.	7/9	.	.	.	.	.	.	.	.	rs376519728,COSM1359035,COSM546579,COSM1359036,COSM1140015	7/9	PASS	ENST00000310346	Transcript	.	.	ENSG00000089225	11604	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	TBX5_HUMAN	TBX5	HGNC	.	.	UPI0000136AA2	SNV	TBX5,synonymous_variant,p.%3D,ENST00000405440,;TBX5,synonymous_variant,p.%3D,ENST00000349716,;TBX5,synonymous_variant,p.%3D,ENST00000310346,;TBX5,synonymous_variant,p.%3D,ENST00000526441,;	1336	84	63	SUCCESS
PRB2	653247	.	GRCh37	12	11546691	11546692	+	inframe_insertion	In_Frame_Ins	INS	-	-	TTG	rs767829184	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	74	0	ENST00000389362.4:c.318_320dup	p.Asp106_Lys107insAsn	p.D106_K107insN	ENST00000389362	NM_006248.3	107	aag/aaCAAg	0	.	.	.	.	.	TTG	K/NK	protein_coding	YES	CCDS41757.2	320-321	PINDEL|RADIA*|SOMATICSNIPER*|MUSE*|MUTECT*|VARSCANS*	.	CGGGACTTGTC	NONE	.	.	hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	.	.	ENSP00000374013	.	3/4	.	.	.	.	.	.	.	.	rs767829184	3/4	PASS	ENST00000389362	Transcript	.	.	ENSG00000121335	9338	.	.	MODERATE	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	PRB2_HUMAN	PRB2	HGNC	.	.	UPI0000EE5993	insertion	PRB2,inframe_insertion,p.Asp106_Lys107insAsn,ENST00000389362,;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	356-357	74	62	SUCCESS
KNTC1	9735	.	GRCh37	12	123070262	123070262	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	62	0	ENST00000333479.7:c.3614A>T	p.Glu1205Val	p.E1205V	ENST00000333479	NM_014708.4	1205	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS45002.1	3614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGTCAC	NONE	.	.	hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688	.	.	ENSP00000328236	.	37/64	.	.	.	.	.	.	.	.	.	37/64	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.31)	.	deleterious(0)	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	KNTC1,missense_variant,p.Glu1205Val,ENST00000333479,;KNTC1,intron_variant,,ENST00000450485,;	3791	62	59	SUCCESS
DNAH10	196385	.	GRCh37	12	124354994	124354994	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	61	0	ENST00000409039.3:c.7247A>T	p.Tyr2416Phe	p.Y2416F	ENST00000409039	NM_207437.3	2416	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS9255.2	7247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTATATTC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	43/78	.	.	.	.	.	.	.	.	.	43/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Tyr2416Phe,ENST00000409039,;DNAH10,3_prime_UTR_variant,,ENST00000497783,;	7272	61	56	SUCCESS
TMEM132C	92293	.	GRCh37	12	128899810	128899810	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	48	95	0	ENST00000435159.2:c.619G>C	p.Ala207Pro	p.A207P	ENST00000435159	NM_001136103.2	207	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	.	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGCCCCG	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4	.	.	ENSP00000410852	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000435159	Transcript	.	.	ENSG00000181234	25436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	T132C_HUMAN	TMEM132C	HGNC	F5H439_HUMAN,E9PC33_HUMAN	.	UPI0001C0B37C	SNV	TMEM132C,missense_variant,p.Ala207Pro,ENST00000435159,;	619	95	87	SUCCESS
SLC4A8	9498	.	GRCh37	12	51890828	51890828	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	14	159	0	ENST00000453097.2:c.3001C>G	p.Leu1001Val	p.L1001V	ENST00000453097	NM_001039960.2	1001	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS44890.1	3001	MUTECT|MUSE|VARSCANS	.	GAGAGCTGAGC	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,TIGRFAM_domain:TIGR00834	.	.	ENSP00000405812	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.448)	.	deleterious(0.01)	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,missense_variant,p.Leu1028Val,ENST00000358657,;SLC4A8,missense_variant,p.Leu1001Val,ENST00000453097,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546872,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,upstream_gene_variant,,ENST00000546875,;SLC4A8,downstream_gene_variant,,ENST00000548616,;	3218	159	154	SUCCESS
CDK2	1017	.	GRCh37	12	56365394	56365394	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	107	0	ENST00000266970.4:c.882C>G	p.Pro294=	p.P294=	ENST00000266970	NM_001798.3	294	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS8898.1	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCCCATCT	NONE	.	.	hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF168	.	.	ENSP00000266970	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000266970	Transcript	.	.	ENSG00000123374	1771	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK2_HUMAN	CDK2	HGNC	G3V317_HUMAN	.	UPI00001105FA	SNV	CDK2,synonymous_variant,p.%3D,ENST00000266970,;CDK2,synonymous_variant,p.%3D,ENST00000354056,;CDK2,synonymous_variant,p.%3D,ENST00000553376,;CDK2,synonymous_variant,p.%3D,ENST00000440311,;PMEL,intron_variant,,ENST00000549233,;RAB5B,upstream_gene_variant,,ENST00000551459,;PMEL,upstream_gene_variant,,ENST00000539511,;PMEL,upstream_gene_variant,,ENST00000536427,;PMEL,upstream_gene_variant,,ENST00000549418,;RAB5B,upstream_gene_variant,,ENST00000448789,;PMEL,upstream_gene_variant,,ENST00000552882,;PMEL,upstream_gene_variant,,ENST00000360714,;RAB5B,upstream_gene_variant,,ENST00000548068,;PMEL,upstream_gene_variant,,ENST00000548493,;PMEL,upstream_gene_variant,,ENST00000548747,;RAB5B,upstream_gene_variant,,ENST00000553116,;RAB5B,upstream_gene_variant,,ENST00000549915,;RAB5B,upstream_gene_variant,,ENST00000360299,;RP11-973D8.4,upstream_gene_variant,,ENST00000554022,;CDK2,non_coding_transcript_exon_variant,,ENST00000556656,;CDK2,non_coding_transcript_exon_variant,,ENST00000554545,;CDK2,downstream_gene_variant,,ENST00000556464,;CDK2,downstream_gene_variant,,ENST00000556276,;CDK2,downstream_gene_variant,,ENST00000556146,;PMEL,upstream_gene_variant,,ENST00000548689,;CDK2,3_prime_UTR_variant,,ENST00000555408,;CDK2,downstream_gene_variant,,ENST00000555357,;RAB5B,upstream_gene_variant,,ENST00000549505,;PMEL,upstream_gene_variant,,ENST00000549430,;RAB5B,upstream_gene_variant,,ENST00000546810,;CDK2,downstream_gene_variant,,ENST00000554619,;	1122	108	83	SUCCESS
PPM1H	57460	.	GRCh37	12	63042384	63042384	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs540042623	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	49	0	ENST00000228705.6:c.1430G>T	p.Arg477Leu	p.R477L	ENST00000228705	NM_020700.1	477	cGt/cTt	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS44934.1	1430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACGCATC	BUFFER|p.R477C|c.1429C>T|3	by1000G	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606	T:0	.	ENSP00000228705	T:0.001	10/10	.	.	.	.	.	.	.	.	rs540042623,COSM193406	10/10	PASS	ENST00000228705	Transcript	.	T:0.0002	ENSG00000111110	18583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.909)	T:0	deleterious(0.03)	0,1	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,missense_variant,p.Arg477Leu,ENST00000228705,;snoU13,upstream_gene_variant,,ENST00000459527,;PPM1H,non_coding_transcript_exon_variant,,ENST00000551214,;	1731	49	49	SUCCESS
ERCC5	2073	.	GRCh37	13	103518669	103518669	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	502	113	243	0	ENST00000355739.4:c.2257C>G	p.Gln753Glu	p.Q753E	ENST00000355739	NM_000123.3	753	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	.	3535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCAAAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16171,TIGRFAM_domain:TIGR00600,Superfamily_domains:SSF88723	.	.	ENSP00000473384	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000602836	Transcript	.	.	ENSG00000270181	43690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	tolerated(0.23)	.	.	BIVM-ERCC5	HGNC	.	.	UPI0002B83330	SNV	BIVM-ERCC5,missense_variant,p.Gln1179Glu,ENST00000602836,;ERCC5,missense_variant,p.Gln753Glu,ENST00000355739,;ERCC5,5_prime_UTR_variant,,ENST00000375954,;ERCC5,non_coding_transcript_exon_variant,,ENST00000481099,;	3533	243	616	SUCCESS
FREM2	341640	.	GRCh37	13	39262451	39262451	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	87	129	0	ENST00000280481.7:c.970G>A	p.Ala324Thr	p.A324T	ENST00000280481	NM_207361.4	324	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31960.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGGCCATG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.02)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Ala324Thr,ENST00000280481,;	1186	129	116	SUCCESS
EPSTI1	94240	.	GRCh37	13	43543304	43543304	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	59	0	ENST00000398762.3:c.257A>T	p.Gln86Leu	p.Q86L	ENST00000398762		86	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS31964.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22529:SF1,hmmpanther:PTHR22529	.	.	ENSP00000318982	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000313640	Transcript	.	.	ENSG00000133106	16465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	deleterious(0)	.	ESIP1_HUMAN	EPSTI1	HGNC	F5H799_HUMAN	.	UPI0000074657	SNV	EPSTI1,missense_variant,p.Gln86Leu,ENST00000398762,;EPSTI1,missense_variant,p.Gln86Leu,ENST00000313640,;EPSTI1,missense_variant,p.Gln86Leu,ENST00000313624,;EPSTI1,5_prime_UTR_variant,,ENST00000537828,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000542706,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000476830,;EPSTI1,downstream_gene_variant,,ENST00000536042,;EPSTI1,synonymous_variant,p.%3D,ENST00000538562,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;	322	59	24	SUCCESS
RB1	5925	.	GRCh37	13	49039196	49039228	+	inframe_deletion	In_Frame_Del	DEL	GGTCTTCATGCAGAGACTGAAAACAAATATTTT	GGTCTTCATGCAGAGACTGAAAACAAATATTTT	-	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	GGTCTTCATGCAGAGACTGAAAACAAATATTTT	GGTCTTCATGCAGAGACTGAAAACAAATATTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	155	0	ENST00000267163.4:c.2275_2307del	p.Val759_Leu769del	p.V759_L769del	ENST00000267163	NM_000321.2	758	tcGGTCTTCATGCAGAGACTGAAAACAAATATTTTg/tcg	0	.	.	.	.	.	-	SVFMQRLKTNIL/S	protein_coding	YES	CCDS31973.1	2274-2306	INDELOCATOR*|VARSCANI*|PINDEL	.	TAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGT	CODON|p.K765*|c.2293A>T|3,CODON|p.K765*|c.2293A>T|4,BUFFER|p.Y756C|c.2267A>G|3	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01857,Gene3D:1.10.472.10,Pfam_domain:PF08934,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	deletion	RB1,inframe_deletion,p.Val759_Leu769del,ENST00000267163,;	2412-2444	155	61	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102482330	102482330	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	44	0	ENST00000360184.4:c.7380C>A	p.Ser2460=	p.S2460=	ENST00000360184	NM_001376.4	2460	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9966.1	7380	MUTECT|VARSCANS	.	TTCTCCATGCT	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	36/78	.	.	.	.	.	.	.	.	.	36/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;DYNC1H1,upstream_gene_variant,,ENST00000555204,;	7544	44	40	SUCCESS
IGHV3-38	28429	.	GRCh37	14	106866612	106866612	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369602723	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	26	131	0	ENST00000390618.2:c.142G>A	p.Val48Ile	p.V48I	ENST00000390618		48	Gtc/Atc	0	T:0,T:0	.	.	.	.	T	V/I	IG_V_gene	YES	.	142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACGGTGA	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	T:0.0001,T:0.0001	ENSP00000375027	.	2/2	.	.	.	.	.	.	.	.	rs369602723,rs749623913	2/2	PASS	ENST00000390618	Transcript	.	.	ENSG00000211958	5601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.01)	.	.	IGHV3-38	HGNC	.	.	UPI0000F30366	SNV	IGHV3-38,missense_variant,p.Val48Ile,ENST00000390618,;	220	131	118	SUCCESS
HERC2P3	283755	.	GRCh37	15	20658996	20658996	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs768616834	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	18	0	ENST00000428453.1:n.1871G>A		p.*624*	ENST00000428453				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CCAGGCGAACC	NONE	byFrequency	.	.	.	.	.	.	14/27	.	.	.	.	.	.	.	.	rs768616834	14/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,upstream_gene_variant,,ENST00000440441,;HERC2P3,upstream_gene_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000429926,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1871	18	18	SUCCESS
NPAP1	23742	.	GRCh37	15	24920834	24920834	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	28	0	ENST00000329468.2:c.-181C>A		p.*61*	ENST00000329468	NM_018958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCCCTCT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,5_prime_UTR_variant,,ENST00000329468,;	294	28	22	SUCCESS
HERC2	8924	.	GRCh37	15	28377352	28377352	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	61	204	0	ENST00000261609.7:c.12464C>T	p.Ala4155Val	p.A4155V	ENST00000261609	NM_004667.5	4155	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10021.1	12464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGCATCT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000261609	.	81/93	.	.	.	.	.	.	.	.	.	81/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Ala4155Val,ENST00000261609,;	12573	204	147	SUCCESS
RYR3	6263	.	GRCh37	15	33954429	33954429	+	synonymous_variant	Silent	SNP	C	C	T	rs563422149	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	48	0	ENST00000389232.4:c.4698C>T	p.Ser1566=	p.S1566=	ENST00000389232	NM_001036.3	1566	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45210.1	4698	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCGCGGT	BUFFER|p.C1569C|c.4707C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	35/104	.	.	.	.	.	.	.	.	rs563422149	35/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,synonymous_variant,p.%3D,ENST00000389232,;RYR3,synonymous_variant,p.%3D,ENST00000415757,;	4768	48	34	SUCCESS
WDR76	79968	.	GRCh37	15	44158353	44158353	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	35	81	0	ENST00000263795.6:c.1644G>T	p.Leu548=	p.L548=	ENST00000263795	NM_001167941.1	548	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10106.1	1644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGACCAG	NONE	.	.	hmmpanther:PTHR14773:SF0,hmmpanther:PTHR14773,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000263795	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000263795	Transcript	.	.	ENSG00000092470	25773	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR76_HUMAN	WDR76	HGNC	C9JE56_HUMAN	.	UPI000013D462	SNV	WDR76,synonymous_variant,p.%3D,ENST00000381246,;WDR76,synonymous_variant,p.%3D,ENST00000263795,;FRMD5,downstream_gene_variant,,ENST00000417257,;FRMD5,downstream_gene_variant,,ENST00000402883,;Y_RNA,upstream_gene_variant,,ENST00000363521,;WDR76,non_coding_transcript_exon_variant,,ENST00000478130,;	1714	81	88	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79058475	79058475	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	23	35	0	ENST00000388820.4:c.3778C>A	p.Leu1260Met	p.L1260M	ENST00000388820	NM_014272.3	1260	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS32303.1	3778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGCTCCG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142	.	.	ENSP00000373472	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	.	tolerated(0.14)	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,missense_variant,p.Leu1260Met,ENST00000388820,;ADAMTS7,downstream_gene_variant,,ENST00000566303,;ADAMTS7,upstream_gene_variant,,ENST00000569934,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;	3989	35	33	SUCCESS
KIF7	374654	.	GRCh37	15	90190176	90190176	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	23	73	0	ENST00000394412.3:c.1673C>A	p.Ser558Tyr	p.S558Y	ENST00000394412	NM_198525.2	558	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS32325.2	1673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGACCCG	NONE	.	.	hmmpanther:PTHR24115:SF342,hmmpanther:PTHR24115	.	.	ENSP00000377934	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000394412	Transcript	1	.	ENSG00000166813	30497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	deleterious(0.01)	.	KIF7_HUMAN	KIF7	HGNC	B7ZKY4_HUMAN	.	UPI00015F81C7	SNV	KIF7,missense_variant,p.Ser558Tyr,ENST00000394412,;KIF7,downstream_gene_variant,,ENST00000445906,;	1750	73	39	SUCCESS
KIF22	3835	.	GRCh37	16	29802318	29802318	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	34	0	ENST00000160827.4:c.70+168G>T		p.*24*	ENST00000160827	NM_001256269.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10653.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCCTGG	NONE	.	.	.	.	.	ENSP00000160827	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000160827	Transcript	.	.	ENSG00000079616	6391	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF22_HUMAN	KIF22	HGNC	Q14985_HUMAN,H3BTH5_HUMAN,H3BQB9_HUMAN	.	UPI00000012C0	SNV	KIF22,5_prime_UTR_variant,,ENST00000561482,;KIF22,5_prime_UTR_variant,,ENST00000400751,;KIF22,intron_variant,,ENST00000160827,;KIF22,intron_variant,,ENST00000400750,;KIF22,intron_variant,,ENST00000569636,;KIF22,intron_variant,,ENST00000570173,;	.	34	28	SUCCESS
SERPINF2	5345	.	GRCh37	17	1657772	1657772	+	synonymous_variant	Silent	SNP	T	T	C	rs752842203	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	32	35	0	ENST00000324015.3:c.1420T>C	p.Leu474=	p.L474=	ENST00000324015	NM_000934.3	474	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11011.1	1420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTTAAAA	NONE	.	.	.	.	.	ENSP00000321853	.	10/10	.	.	.	.	.	.	.	.	rs752842203	10/10	PASS	ENST00000324015	Transcript	.	.	ENSG00000167711	9075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2AP_HUMAN	SERPINF2	HGNC	C9JMH6_HUMAN	.	UPI000012500F	SNV	SERPINF2,synonymous_variant,p.%3D,ENST00000450523,;SERPINF2,synonymous_variant,p.%3D,ENST00000382061,;SERPINF2,synonymous_variant,p.%3D,ENST00000324015,;SERPINF2,downstream_gene_variant,,ENST00000453723,;	1497	35	42	SUCCESS
RAI1	10743	.	GRCh37	17	17697493	17697493	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	31	95	0	ENST00000353383.1:c.1231G>T	p.Ala411Ser	p.A411S	ENST00000353383	NM_030665.3	411	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11188.1	1231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCTGGC	NONE	.	.	hmmpanther:PTHR14955:SF6,hmmpanther:PTHR14955	.	.	ENSP00000323074	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000353383	Transcript	.	.	ENSG00000108557	9834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.75)	.	RAI1_HUMAN	RAI1	HGNC	J3QLL5_HUMAN,A8MXE8_HUMAN	.	UPI0000200AAF	SNV	RAI1,missense_variant,p.Ala411Ser,ENST00000353383,;RAI1,missense_variant,p.Ala411Ser,ENST00000261641,;RAI1,missense_variant,p.Ala411Ser,ENST00000395774,;RAI1,upstream_gene_variant,,ENST00000583166,;RAI1,downstream_gene_variant,,ENST00000471135,;	1700	95	50	SUCCESS
RAB34	83871	.	GRCh37	17	27044319	27044319	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs199826376	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	32	0	ENST00000301043.6:c.-35G>A		p.*12*	ENST00000301043	NM_001256277.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS45635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCGCCGA	NONE	byCluster|by1000G	.	.	T:0.001	.	ENSP00000410403	T:0	.	.	.	.	.	.	.	.	.	rs199826376	.	PASS	ENST00000447716	Transcript	.	T:0.0002	ENSG00000109113	16519	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	RAB34	HGNC	K7EIF2_HUMAN,J3KQW8_HUMAN,C9JBG0_HUMAN,B4DNC0_HUMAN	.	UPI0001929526	SNV	RAB34,5_prime_UTR_variant,,ENST00000301043,;RAB34,5_prime_UTR_variant,,ENST00000419712,;RAB34,5_prime_UTR_variant,,ENST00000395242,;RAB34,5_prime_UTR_variant,,ENST00000395243,;RAB34,5_prime_UTR_variant,,ENST00000415040,;RAB34,5_prime_UTR_variant,,ENST00000395245,;RAB34,5_prime_UTR_variant,,ENST00000353676,;RAB34,5_prime_UTR_variant,,ENST00000580843,;RAB34,5_prime_UTR_variant,,ENST00000582934,;RAB34,intron_variant,,ENST00000583538,;RAB34,intron_variant,,ENST00000430132,;RAB34,intron_variant,,ENST00000436730,;RAB34,intron_variant,,ENST00000447716,;RAB34,intron_variant,,ENST00000450529,;RAB34,intron_variant,,ENST00000412625,;RAB34,intron_variant,,ENST00000453384,;RPL23A,upstream_gene_variant,,ENST00000472628,;RPL23A,upstream_gene_variant,,ENST00000394938,;RPL23A,upstream_gene_variant,,ENST00000394935,;RPL23A,upstream_gene_variant,,ENST00000422514,;RPL23A,upstream_gene_variant,,ENST00000578181,;RPL23A,upstream_gene_variant,,ENST00000355731,;RPL23A,upstream_gene_variant,,ENST00000496182,;SNORD42B,upstream_gene_variant,,ENST00000458893,;AC010761.8,downstream_gene_variant,,ENST00000582718,;RAB34,5_prime_UTR_variant,,ENST00000422279,;RAB34,non_coding_transcript_exon_variant,,ENST00000482688,;RAB34,non_coding_transcript_exon_variant,,ENST00000483554,;RPL23A,upstream_gene_variant,,ENST00000582736,;RAB34,upstream_gene_variant,,ENST00000481501,;RAB34,upstream_gene_variant,,ENST00000496866,;RAB34,upstream_gene_variant,,ENST00000474704,;RAB34,upstream_gene_variant,,ENST00000484161,;	.	32	27	SUCCESS
RNF135	84282	.	GRCh37	17	29325932	29325932	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	67	100	0	ENST00000328381.5:c.1022G>T	p.Gly341Val	p.G341V	ENST00000328381	NM_032322.3	341	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11262.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGAAGGA	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF200,PROSITE_profiles:PS50188	.	.	ENSP00000328340	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000328381	Transcript	.	.	ENSG00000181481	21158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	RN135_HUMAN	RNF135	HGNC	B3KV69_HUMAN	.	UPI00001AF795	SNV	RNF135,missense_variant,p.Gly341Val,ENST00000328381,;RNF135,3_prime_UTR_variant,,ENST00000324689,;RNF135,3_prime_UTR_variant,,ENST00000443677,;RNF135,3_prime_UTR_variant,,ENST00000535306,;RNF135,downstream_gene_variant,,ENST00000434242,;RNF135,downstream_gene_variant,,ENST00000580444,;	1895	100	141	SUCCESS
ZNF830	91603	.	GRCh37	17	33288615	33288615	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	75	1	ENST00000361952.3:c.30G>T	p.Pro10=	p.P10=	ENST00000361952	NM_052857.3	10	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32618.1	30	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGGCAGG	NONE	.	.	hmmpanther:PTHR13278	.	.	ENSP00000354518	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361952	Transcript	.	.	ENSG00000198783	28291	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN830_HUMAN	ZNF830	HGNC	J3QQQ3_HUMAN	.	UPI0000456A79	SNV	ZNF830,synonymous_variant,p.%3D,ENST00000361952,;CCT6B,intron_variant,,ENST00000585073,;CCT6B,upstream_gene_variant,,ENST00000314144,;CCT6B,upstream_gene_variant,,ENST00000436961,;CCT6B,upstream_gene_variant,,ENST00000421975,;ZNF830,upstream_gene_variant,,ENST00000578339,;	67	76	111	SUCCESS
SLC35G3	146861	.	GRCh37	17	33521395	33521395	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	53	0	ENST00000297307.5:c.-69C>T		p.*23*	ENST00000297307	NM_152462.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11293.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGACCTC	NONE	.	.	.	.	.	ENSP00000297307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000297307	Transcript	.	.	ENSG00000164729	26848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35G3_HUMAN	SLC35G3	HGNC	.	.	UPI000006FEAB	SNV	SLC35G3,5_prime_UTR_variant,,ENST00000297307,;RP11-799D4.2,downstream_gene_variant,,ENST00000590144,;RP11-799D4.1,downstream_gene_variant,,ENST00000592961,;	18	53	54	SUCCESS
MEOX1	4222	.	GRCh37	17	41738808	41738808	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	85	0	ENST00000318579.4:c.95C>T	p.Ala32Val	p.A32V	ENST00000318579	NM_001040002.1	32	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11466.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGCCCCA	NONE	.	.	hmmpanther:PTHR24328:SF8,hmmpanther:PTHR24328	.	.	ENSP00000321684	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000318579	Transcript	.	.	ENSG00000005102	7013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.04)	.	MEOX1_HUMAN	MEOX1	HGNC	.	.	UPI000012F410	SNV	MEOX1,missense_variant,p.Ala32Val,ENST00000318579,;MEOX1,missense_variant,p.Pro3Ser,ENST00000549132,;MEOX1,missense_variant,p.Ala32Val,ENST00000329168,;MEOX1,intron_variant,,ENST00000393661,;	515	85	127	SUCCESS
ITGA2B	3674	.	GRCh37	17	42453683	42453683	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs542591743	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	37	70	0	ENST00000262407.5:c.2341C>G	p.Leu781Val	p.L781V	ENST00000262407	NM_000419.3	781	Ctg/Gtg	0	.	C:0	.	C:0	.	C	L/V	protein_coding	YES	CCDS32665.1	2341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCAGCTCCA	NONE	by1000G	.	hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Gene3D:1jv2A04,Pfam_domain:PF08441,Superfamily_domains:SSF69179	C:0	.	ENSP00000262407	C:0	23/30	.	.	.	.	.	.	.	.	rs542591743	23/30	PASS	ENST00000262407	Transcript	.	C:0.0002	ENSG00000005961	6138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	C:0.001	deleterious(0.05)	.	ITA2B_HUMAN	ITGA2B	HGNC	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN	.	UPI00001868B8	SNV	ITGA2B,missense_variant,p.Leu781Val,ENST00000353281,;ITGA2B,missense_variant,p.Leu781Val,ENST00000262407,;ITGA2B,downstream_gene_variant,,ENST00000377068,;ITGA2B,upstream_gene_variant,,ENST00000588098,;ITGA2B,upstream_gene_variant,,ENST00000587295,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592462,;ITGA2B,downstream_gene_variant,,ENST00000592226,;	2373	70	83	SUCCESS
CRHR1	1394	.	GRCh37	17	43884410	43884410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	34	0	ENST00000398285.3:c.68C>T	p.Ala23Val	p.A23V	ENST00000398285	NM_001145146.1	23	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45712.1	68	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCCTCCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,Prints_domain:PR01280,Superfamily_domains:SSF111418	.	.	ENSP00000381333	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.11)	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,missense_variant,p.Ala23Val,ENST00000398285,;CRHR1,missense_variant,p.Ala23Val,ENST00000352855,;CRHR1,missense_variant,p.Ala23Val,ENST00000577353,;CRHR1,missense_variant,p.Ala23Val,ENST00000314537,;CRHR1,5_prime_UTR_variant,,ENST00000293493,;CRHR1,5_prime_UTR_variant,,ENST00000339069,;RP11-105N13.4,non_coding_transcript_exon_variant,,ENST00000582044,;RP11-105N13.4,non_coding_transcript_exon_variant,,ENST00000587305,;CRHR1,missense_variant,p.Ala23Val,ENST00000347197,;CRHR1,non_coding_transcript_exon_variant,,ENST00000582766,;CRHR1,upstream_gene_variant,,ENST00000580955,;	68	34	50	SUCCESS
MAP3K3	4215	.	GRCh37	17	61768464	61768464	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	47	0	ENST00000361733.3:c.1215G>A		p.X405_splice	ENST00000361733	NM_002401.3	405	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS32701.1	1308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAGGTGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF38,hmmpanther:PTHR24360,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000354927	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000361357	Transcript	.	.	ENSG00000198909	6855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K3_HUMAN	MAP3K3	HGNC	Q7Z4E6_HUMAN	.	UPI0000074003	SNV	MAP3K3,synonymous_variant,p.%3D,ENST00000579585,;MAP3K3,synonymous_variant,p.%3D,ENST00000361357,;MAP3K3,synonymous_variant,p.%3D,ENST00000577395,;MAP3K3,synonymous_variant,p.%3D,ENST00000584573,;MAP3K3,synonymous_variant,p.%3D,ENST00000361733,;LIMD2,downstream_gene_variant,,ENST00000259006,;MAP3K3,downstream_gene_variant,,ENST00000577784,;MAP3K3,splice_region_variant,,ENST00000577597,;MAP3K3,3_prime_UTR_variant,,ENST00000581732,;MAP3K3,downstream_gene_variant,,ENST00000577839,;MAP3K3,downstream_gene_variant,,ENST00000585302,;MAP3K3,downstream_gene_variant,,ENST00000578622,;	1626	47	31	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62891240	62891240	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	62	0	ENST00000319651.5:c.2136C>G	p.His712Gln	p.H712Q	ENST00000319651		712	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS32708.1	2136	RADIA|MUTECT|VARSCANS	.	GTCAGGTGTGA	NONE	.	.	hmmpanther:PTHR23045	.	.	ENSP00000464535	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.065)	.	tolerated(0.22)	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,missense_variant,p.His712Gln,ENST00000319651,;LRRC37A3,missense_variant,p.His712Gln,ENST00000584306,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000580464,;RP11-927P21.1,intron_variant,,ENST00000577938,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	2667	62	77	SUCCESS
KIAA0753	9851	.	GRCh37	17	6511774	6511774	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765589499	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	43	77	0	ENST00000361413.3:c.1723C>G	p.Leu575Val	p.L575V	ENST00000361413	NM_014804.2	575	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS42247.1	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAGCCATG	NONE	byFrequency	.	hmmpanther:PTHR15732:SF3,hmmpanther:PTHR15732	.	.	ENSP00000355250	.	10/19	.	.	.	.	.	.	.	.	rs765589499	10/19	PASS	ENST00000361413	Transcript	.	.	ENSG00000198920	29110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.24)	.	K0753_HUMAN	KIAA0753	HGNC	I3L1P2_HUMAN,I3L0P7_HUMAN,B7Z6L6_HUMAN	.	UPI000013D2BF	SNV	KIAA0753,missense_variant,p.Leu276Val,ENST00000542606,;KIAA0753,missense_variant,p.Leu31Val,ENST00000589033,;KIAA0753,missense_variant,p.Leu575Val,ENST00000361413,;KIAA0753,missense_variant,p.Leu276Val,ENST00000572370,;KIAA0753,upstream_gene_variant,,ENST00000575027,;KIAA0753,3_prime_UTR_variant,,ENST00000570790,;KIAA0753,3_prime_UTR_variant,,ENST00000542826,;	2082	77	58	SUCCESS
ASGR1	432	.	GRCh37	17	7077199	7077199	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	14	18	0	ENST00000269299.3:c.702-47G>T		p.*234*	ENST00000269299	NM_001197216.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11089.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCGGGTC	NONE	.	.	.	.	.	ENSP00000269299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269299	Transcript	.	.	ENSG00000141505	742	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASGR1_HUMAN	ASGR1	HGNC	Q6FGQ5_HUMAN,J3QSZ2_HUMAN,I3L2S9_HUMAN,I3L1F8_HUMAN,I3L129_HUMAN	.	UPI0000001604	SNV	ASGR1,3_prime_UTR_variant,,ENST00000572879,;ASGR1,3_prime_UTR_variant,,ENST00000574330,;ASGR1,intron_variant,,ENST00000380920,;ASGR1,intron_variant,,ENST00000574388,;ASGR1,intron_variant,,ENST00000269299,;ASGR1,downstream_gene_variant,,ENST00000573083,;ASGR1,downstream_gene_variant,,ENST00000570576,;ASGR1,downstream_gene_variant,,ENST00000573596,;	.	18	19	SUCCESS
HID1	283987	.	GRCh37	17	72959876	72959876	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	69	0	ENST00000425042.2:c.346G>T	p.Gly116Cys	p.G116C	ENST00000425042	NM_030630.2	116	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS32726.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCCCTCC	NONE	.	.	Pfam_domain:PF12722,hmmpanther:PTHR21575,hmmpanther:PTHR21575:SF12	.	.	ENSP00000413520	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000425042	Transcript	.	.	ENSG00000167861	15736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	deleterious(0)	.	HID1_HUMAN	HID1	HGNC	Q8NC03_HUMAN,B4E226_HUMAN	.	UPI00000746AC	SNV	HID1,missense_variant,p.Gly116Cys,ENST00000425042,;HID1,missense_variant,p.Gly66Cys,ENST00000581676,;HID1,intron_variant,,ENST00000530857,;HID1,upstream_gene_variant,,ENST00000318565,;HID1,non_coding_transcript_exon_variant,,ENST00000530904,;HID1,non_coding_transcript_exon_variant,,ENST00000532900,;HID1,non_coding_transcript_exon_variant,,ENST00000579818,;HID1,missense_variant,p.Gly116Cys,ENST00000534480,;HID1,non_coding_transcript_exon_variant,,ENST00000528902,;HID1,non_coding_transcript_exon_variant,,ENST00000525128,;HID1,upstream_gene_variant,,ENST00000532894,;HID1,upstream_gene_variant,,ENST00000583244,;	424	69	77	SUCCESS
TP53	7157	.	GRCh37	17	7578188	7578188	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs786201592	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	56	96	0	ENST00000269305.4:c.661G>T	p.Glu221Ter	p.E221*	ENST00000269305	NM_001126112.2	221	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11118.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTCATAGG	SITE|p.E221*|c.661G>T|6,SITE|p.E221*|c.661G>T|6,SITE|p.E128*|c.382G>T|6,SITE|p.E221*|c.661G>T|10,CODON|p.0?|c.1_1182del1182|6,CODON|p.E221G|c.662A>G|3,BUFFER|p.E224D|c.672G>C|3,BUFFER|p.E224D|c.672G>C|8,BUFFER|p.E224E|c.672G>A|3,BUFFER|p.E224E|c.672G>A|9,BUFFER|p.E224E|c.672G>A|3,BUFFER|p.E131D|c.393G>C|3,BUFFER|p.E224D|c.672G>C|3,BUFFER|p.E224D|c.672G>T|7,BUFFER|p.E224E|c.672G>A|3,BUFFER|p.E131E|c.393G>A|3,BUFFER|p.E224K|c.670G>A|4,BUFFER|p.E224*|c.670G>T|5,BUFFER|p.P223L|c.668C>T|3,BUFFER|p.P222P|c.666G>C|3,BUFFER|p.P222L|c.665C>T|4,BUFFER|p.P222T|c.664C>A|3,BUFFER|p.E221fs*4|c.660_661insN|3,BUFFER|p.Y220*|c.660T>G|3,BUFFER|p.Y220S|c.659A>C|4,BUFFER|p.Y220C|c.659A>G|264,BUFFER|p.Y220C|c.659A>G|63,BUFFER|p.Y127C|c.380A>G|63,BUFFER|p.Y127S|c.380A>C|4,BUFFER|p.Y220S|c.659A>C|3,BUFFER|p.Y220C|c.659A>G|25,BUFFER|p.Y220S|c.659A>C|3,BUFFER|p.Y220S|c.659A>C|4,BUFFER|p.Y220C|c.659A>G|61,BUFFER|p.Y220S|c.659A>C|13,BUFFER|p.Y220C|c.659A>G|33,BUFFER|p.?|c.252+10T>A|3,BUFFER|p.Y220N|c.658T>A|16,BUFFER|p.?|c.252+10T>C|4,BUFFER|p.Y220H|c.658T>C|4,BUFFER|p.Y220H|c.658T>C|13,BUFFER|p.Y220H|c.658T>C|4,BUFFER|p.Y220N|c.658T>A|3,BUFFER|p.Y127H|c.379T>C|4,BUFFER|p.Y127N|c.379T>A|3,BUFFER|p.Y220N|c.658T>A|3,BUFFER|p.P219P|c.657C>T|3,BUFFER|p.Y220fs*27|c.655delC|4,BUFFER|p.V218delV|c.652_654delGTG|3,BUFFER|p.P219S|c.655C>T|4,BUFFER|p.V218G|c.653T>G|6,BUFFER|p.V218A|c.653T>C|3,BUFFER|p.V218E|c.653T>A|8,BUFFER|p.V218M|c.652G>A|7,BUFFER|p.V217A|c.650T>C|5,BUFFER|p.V217G|c.650T>G|4,BUFFER|p.V217E|c.650T>A|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12730G>T,TP53_g.12730G>A,TP53_g.12730del,TP53_g.12730G>C,COSM44817,COSM44853,COSM44276,COSM126982,COSM126983,COSM3937611,COSM1646845,COSM126984	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Glu221Ter,ENST00000413465,;TP53,stop_gained,p.Glu221Ter,ENST00000420246,;TP53,stop_gained,p.Glu221Ter,ENST00000269305,;TP53,stop_gained,p.Glu89Ter,ENST00000509690,;TP53,stop_gained,p.Glu221Ter,ENST00000359597,;TP53,stop_gained,p.Glu128Ter,ENST00000514944,;TP53,stop_gained,p.Glu221Ter,ENST00000445888,;TP53,stop_gained,p.Glu221Ter,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	851	96	80	SUCCESS
TBC1D16	125058	.	GRCh37	17	77922702	77922702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	65	0	ENST00000310924.2:c.1510G>T	p.Gly504Trp	p.G504W	ENST00000310924	NM_019020.3	504	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS11766.1	1510	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCCCGGA	NONE	.	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Gene3D:2qq8A02,Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF191,PROSITE_profiles:PS50086	.	.	ENSP00000309794	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000310924	Transcript	.	.	ENSG00000167291	28356	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBC16_HUMAN	TBC1D16	HGNC	I3L0U9_HUMAN,B9A6L7_HUMAN	.	UPI000006DDA6	SNV	TBC1D16,missense_variant,p.Gly143Trp,ENST00000570373,;TBC1D16,missense_variant,p.Gly119Trp,ENST00000573782,;TBC1D16,missense_variant,p.Gly185Trp,ENST00000574241,;TBC1D16,missense_variant,p.Gly504Trp,ENST00000310924,;TBC1D16,missense_variant,p.Gly142Trp,ENST00000340848,;TBC1D16,missense_variant,p.Gly142Trp,ENST00000572862,;TBC1D16,missense_variant,p.Gly133Trp,ENST00000574427,;TBC1D16,missense_variant,p.Gly129Trp,ENST00000576768,;TBC1D16,downstream_gene_variant,,ENST00000571872,;	1626	65	94	SUCCESS
UTS2R	2837	.	GRCh37	17	80333246	80333246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	46	2	ENST00000313135.2:c.1046C>A	p.Ala349Asp	p.A349D	ENST00000313135	NM_018949.1	349	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS11810.1	1046	SOMATICSNIPER|VARSCANS	.	CCGCGCCCGCT	NONE	.	.	hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF60,Prints_domain:PR00647	.	.	ENSP00000323516	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313135	Transcript	.	.	ENSG00000181408	4468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(0.62)	.	UR2R_HUMAN	UTS2R	HGNC	.	.	UPI000005046F	SNV	UTS2R,missense_variant,p.Ala349Asp,ENST00000313135,;	1094	48	24	SUCCESS
POTEC	388468	.	GRCh37	18	14538244	14538244	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	49	0	ENST00000358970.5:c.526G>A	p.Ala176Thr	p.A176T	ENST00000358970	NM_001137671.1	176	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45835.1	526	RADIA|MUSE|VARSCANS	.	TAGAGCAGTCC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	.	.	ENSP00000351856	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,missense_variant,p.Ala176Thr,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Ala176Thr,ENST00000511306,;	526	49	47	SUCCESS
LAMA3	3909	.	GRCh37	18	21422647	21422647	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	68	123	0	ENST00000313654.9:c.3536A>T	p.Glu1179Val	p.E1179V	ENST00000313654	NM_198129.1	1179	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS42419.1	3536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGAGTTTG	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	29/75	.	.	.	.	.	.	.	.	.	29/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Glu1179Val,ENST00000313654,;LAMA3,missense_variant,p.Glu1179Val,ENST00000399516,;	3777	123	163	SUCCESS
NOL4	8715	.	GRCh37	18	31523091	31523097	+	frameshift_variant	Frame_Shift_Del	DEL	CCAAGAT	CCAAGAT	-	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	CCAAGAT	CCAAGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	83	0	ENST00000261592.5:c.1474_1480del	p.Ile492LeufsTer68	p.I492Lfs*68	ENST00000261592	NM_001198546.1	492	ATCTTGGct/ct	0	.	.	.	.	.	-	ILA/X	protein_coding	YES	CCDS11907.2	1474-1480	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAAGCCAAGATACTCT	NONE	.	.	hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8	.	.	ENSP00000261592	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000261592	Transcript	.	.	ENSG00000101746	7870	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOL4_HUMAN	NOL4	HGNC	.	.	UPI000059D504	deletion	NOL4,frameshift_variant,p.Ile492LeufsTer68,ENST00000261592,;NOL4,frameshift_variant,p.Ile418LeufsTer68,ENST00000538587,;NOL4,frameshift_variant,p.Ile207LeufsTer68,ENST00000535384,;NOL4,frameshift_variant,p.Ile273LeufsTer68,ENST00000535475,;NOL4,frameshift_variant,p.Ile177LeufsTer?,ENST00000586553,;NOL4,frameshift_variant,p.Ile412LeufsTer68,ENST00000590712,;NOL4,intron_variant,,ENST00000589544,;NOL4,intron_variant,,ENST00000269185,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	1772-1778	83	76	SUCCESS
SIGLEC15	284266	.	GRCh37	18	43418741	43418741	+	synonymous_variant	Silent	SNP	G	G	T	rs771682979	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	12	0	ENST00000389474.3:c.555G>T	p.Ala185=	p.A185=	ENST00000389474	NM_213602.2	185	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32819.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGCTCTG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF47,Pfam_domain:PF13895,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000374125	.	4/6	.	.	.	.	.	.	.	.	rs771682979	4/6	PASS	ENST00000389474	Transcript	.	.	ENSG00000197046	27596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIG15_HUMAN	SIGLEC15	HGNC	.	.	UPI000015FA55	SNV	SIGLEC15,synonymous_variant,p.%3D,ENST00000389474,;SIGLEC15,synonymous_variant,p.%3D,ENST00000546268,;SIGLEC15,5_prime_UTR_variant,,ENST00000587418,;SIGLEC15,non_coding_transcript_exon_variant,,ENST00000602118,;SIGLEC15,non_coding_transcript_exon_variant,,ENST00000593178,;	772	12	13	SUCCESS
C18orf25	147339	.	GRCh37	18	43796312	43796312	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	120	0	ENST00000282059.6:c.466A>T	p.Lys156Ter	p.K156*	ENST00000282059	NM_145055.3	156	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS42430.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGAAAAAC	NONE	.	.	hmmpanther:PTHR13644,Pfam_domain:PF15303	.	.	ENSP00000282059	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000282059	Transcript	.	.	ENSG00000152242	28172	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR025_HUMAN	C18orf25	HGNC	Q5BIX2_HUMAN,K7ER64_HUMAN,K7EQH1_HUMAN	.	UPI000013DCB6	SNV	C18orf25,stop_gained,p.Lys156Ter,ENST00000321319,;C18orf25,stop_gained,p.Lys156Ter,ENST00000282059,;C18orf25,stop_gained,p.Lys5Ter,ENST00000588730,;C18orf25,downstream_gene_variant,,ENST00000587591,;	840	120	129	SUCCESS
ZNF823	55552	.	GRCh37	19	11834023	11834023	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	19	98	0	ENST00000341191.6:c.326G>C	p.Gly109Ala	p.G109A	ENST00000341191	NM_001080493.2	109	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS45981.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGACCCAAG	NONE	.	.	hmmpanther:PTHR24379:SF27,hmmpanther:PTHR24379	.	.	ENSP00000340683	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000341191	Transcript	.	.	ENSG00000197933	30936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	tolerated(0.51)	.	ZN823_HUMAN	ZNF823	HGNC	K7EN93_HUMAN,C9J2N8_HUMAN,B7Z8D4_HUMAN	.	UPI0000203407	SNV	ZNF823,missense_variant,p.Gly65Ala,ENST00000431998,;ZNF823,missense_variant,p.Gly109Ala,ENST00000341191,;ZNF823,5_prime_UTR_variant,,ENST00000545749,;ZNF823,3_prime_UTR_variant,,ENST00000440527,;ZNF823,5_prime_UTR_variant,,ENST00000586121,;CTC-499B15.6,downstream_gene_variant,,ENST00000586983,;	480	98	95	SUCCESS
IER2	9592	.	GRCh37	19	13264628	13264628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	18	0	ENST00000292433.3:c.628G>T	p.Asp210Tyr	p.D210Y	ENST00000292433	NM_004907.2	210	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS12295.1	628	MUTECT|MUSE	.	CGGCGGACAGC	NONE	.	.	hmmpanther:PTHR15895,hmmpanther:PTHR15895:SF4,Pfam_domain:PF05760	.	.	ENSP00000465617	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000588173	Transcript	.	.	ENSG00000160888	28871	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IER2_HUMAN	IER2	HGNC	.	.	UPI000006D032	SNV	IER2,missense_variant,p.Asp210Tyr,ENST00000587885,;IER2,missense_variant,p.Asp210Tyr,ENST00000588173,;IER2,missense_variant,p.Asp210Tyr,ENST00000292433,;STX10,upstream_gene_variant,,ENST00000587318,;STX10,upstream_gene_variant,,ENST00000587230,;STX10,upstream_gene_variant,,ENST00000588848,;STX10,upstream_gene_variant,,ENST00000593126,;STX10,upstream_gene_variant,,ENST00000589083,;STX10,upstream_gene_variant,,ENST00000242770,;STX10,upstream_gene_variant,,ENST00000343587,;STX10,upstream_gene_variant,,ENST00000591197,;CTC-250I14.6,non_coding_transcript_exon_variant,,ENST00000592882,;CTC-250I14.6,upstream_gene_variant,,ENST00000586483,;STX10,upstream_gene_variant,,ENST00000591843,;STX10,upstream_gene_variant,,ENST00000440593,;CTC-250I14.1,downstream_gene_variant,,ENST00000481802,;	1840	18	9	SUCCESS
PLVAP	83483	.	GRCh37	19	17487766	17487766	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144117840	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	38	0	ENST00000252590.4:c.332G>A	p.Arg111His	p.R111H	ENST00000252590	NM_031310.1	111	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS32952.1	332	RADIA|VARSCANS	.	TGATGCGGTCC	NONE	byCluster	.	hmmpanther:PTHR21687,hmmpanther:PTHR21687:SF2,Pfam_domain:PF06637	.	T:0.0002	ENSP00000252590	.	1/6	.	.	.	.	.	.	.	.	rs144117840,COSM3796763	1/6	PASS	ENST00000252590	Transcript	.	.	ENSG00000130300	13635	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.994)	.	deleterious(0.01)	0,1	PLVAP_HUMAN	PLVAP	HGNC	.	.	UPI000003ED36	SNV	PLVAP,missense_variant,p.Arg111His,ENST00000252590,;PLVAP,missense_variant,p.Arg111His,ENST00000599426,;	394	38	36	SUCCESS
JAK3	3718	.	GRCh37	19	17942056	17942056	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	55	0	ENST00000458235.1:c.2959G>A	p.Gly987Ser	p.G987S	ENST00000458235	NM_000215.3	987	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12366.1	2959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCTGGCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000391676	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated(0.05)	.	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Gly987Ser,ENST00000458235,;JAK3,missense_variant,p.Gly987Ser,ENST00000534444,;JAK3,missense_variant,p.Gly987Ser,ENST00000527670,;JAK3,intron_variant,,ENST00000527031,;	3059	55	45	SUCCESS
ZNF85	7639	.	GRCh37	19	21132144	21132144	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	67	0	ENST00000328178.8:c.824C>A	p.Thr275Asn	p.T275N	ENST00000328178	NM_003429.4	275	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS32977.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTACCCATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000329793	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328178	Transcript	.	.	ENSG00000105750	13160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.32)	.	ZNF85_HUMAN	ZNF85	HGNC	M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN	.	UPI0000203897	SNV	ZNF85,missense_variant,p.Thr216Asn,ENST00000601023,;ZNF85,missense_variant,p.Thr275Asn,ENST00000328178,;ZNF85,missense_variant,p.Thr198Asn,ENST00000599064,;ZNF85,missense_variant,p.Thr242Asn,ENST00000345030,;ZNF85,missense_variant,p.Thr223Asn,ENST00000596534,;ZNF85,missense_variant,p.Thr223Asn,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000601284,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000601924,;	937	67	46	SUCCESS
ZNF98	148198	.	GRCh37	19	22575415	22575415	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	123	258	0	ENST00000357774.5:c.622A>G	p.Lys208Glu	p.K208E	ENST00000357774	NM_001098626.1	208	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS46031.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTTCTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.02)	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,missense_variant,p.Lys208Glu,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	744	258	246	SUCCESS
ZNF99	7652	.	GRCh37	19	22941607	22941607	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	40	1	ENST00000596209.1:c.1104C>T	p.Pro368=	p.P368=	ENST00000596209	NM_001080409.2	368	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS59369.1	1104	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAGGGTTT	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	COSM3531761	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,synonymous_variant,p.%3D,ENST00000397104,;ZNF99,synonymous_variant,p.%3D,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	1195	41	33	SUCCESS
LGI4	163175	.	GRCh37	19	35624619	35624619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	36	0	ENST00000310123.3:c.292G>T	p.Gly98Cys	p.G98C	ENST00000310123	NM_139284.2	98	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS12444.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCCGCAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF258,hmmpanther:PTHR24367,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000312273	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000310123	Transcript	.	.	ENSG00000153902	18712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LGI4_HUMAN	LGI4	HGNC	.	.	UPI000004C5DE	SNV	LGI4,missense_variant,p.Gly98Cys,ENST00000310123,;LGI4,missense_variant,p.Gly98Cys,ENST00000591633,;LGI4,missense_variant,p.Gly98Cys,ENST00000392225,;LGI4,missense_variant,p.Gly10Cys,ENST00000587780,;LGI4,non_coding_transcript_exon_variant,,ENST00000592346,;LGI4,non_coding_transcript_exon_variant,,ENST00000493050,;LGI4,non_coding_transcript_exon_variant,,ENST00000591840,;LGI4,non_coding_transcript_exon_variant,,ENST00000473160,;LGI4,non_coding_transcript_exon_variant,,ENST00000593248,;AC020907.2,downstream_gene_variant,,ENST00000366225,;	812	36	50	SUCCESS
PRODH2	58510	.	GRCh37	19	36297613	36297613	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	54	0	ENST00000301175.3:c.1026G>T	p.Gly342=	p.G342=	ENST00000301175	NM_021232.1	342	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12478.1	1026	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCCCGCC	NONE	.	.	hmmpanther:PTHR13914:SF0,hmmpanther:PTHR13914,Gene3D:3.20.20.220,Pfam_domain:PF01619,Superfamily_domains:SSF51730	.	.	ENSP00000301175	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000301175	Transcript	.	.	ENSG00000250799	17325	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PROD2_HUMAN	PRODH2	HGNC	.	.	UPI000006EE59	SNV	PRODH2,synonymous_variant,p.%3D,ENST00000301175,;PRODH2,synonymous_variant,p.%3D,ENST00000588266,;PRODH2,upstream_gene_variant,,ENST00000589835,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,upstream_gene_variant,,ENST00000587808,;	1044	54	46	SUCCESS
RYR1	6261	.	GRCh37	19	39001379	39001379	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	89	0	ENST00000359596.3:c.9080G>T	p.Ser3027Ile	p.S3027I	ENST00000359596		3027	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS33011.1	9080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGCGGTG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	60/106	.	.	.	.	.	.	.	.	.	60/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.267)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ser3027Ile,ENST00000355481,;RYR1,missense_variant,p.Ser3027Ile,ENST00000360985,;RYR1,missense_variant,p.Ser3027Ile,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000599547,;RYR1,missense_variant,p.Ser845Ile,ENST00000594335,;	9080	89	83	SUCCESS
RYR1	6261	.	GRCh37	19	39001380	39001380	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375021688	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	87	1	ENST00000359596.3:c.9081C>A	p.Ser3027Arg	p.S3027R	ENST00000359596		3027	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS33011.1	9081	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCGGTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	60/106	.	.	.	.	.	.	.	.	rs375021688	60/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.404)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ser3027Arg,ENST00000355481,;RYR1,missense_variant,p.Ser3027Arg,ENST00000360985,;RYR1,missense_variant,p.Ser3027Arg,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000599547,;RYR1,missense_variant,p.Ser845Arg,ENST00000594335,;	9081	88	81	SUCCESS
ANKRD24	170961	.	GRCh37	19	4186390	4186390	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	54	0	ENST00000318934.4:c.-33G>T		p.*11*	ENST00000318934				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45925.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGCCTGT	NONE	.	.	.	.	.	ENSP00000471252	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000600132	Transcript	.	.	ENSG00000089847	29424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR24_HUMAN	ANKRD24	HGNC	.	.	UPI000041F5A9	SNV	ANKRD24,5_prime_UTR_variant,,ENST00000318934,;ANKRD24,5_prime_UTR_variant,,ENST00000600132,;SIRT6,upstream_gene_variant,,ENST00000601488,;SIRT6,upstream_gene_variant,,ENST00000597896,;SIRT6,upstream_gene_variant,,ENST00000381935,;SIRT6,upstream_gene_variant,,ENST00000337491,;SIRT6,upstream_gene_variant,,ENST00000594279,;ANKRD24,upstream_gene_variant,,ENST00000597689,;SIRT6,upstream_gene_variant,,ENST00000305232,;SIRT6,upstream_gene_variant,,ENST00000601571,;SIRT6,upstream_gene_variant,,ENST00000600540,;SIRT6,upstream_gene_variant,,ENST00000596119,;SIRT6,upstream_gene_variant,,ENST00000595670,;SIRT6,upstream_gene_variant,,ENST00000596298,;SIRT6,upstream_gene_variant,,ENST00000599365,;SIRT6,upstream_gene_variant,,ENST00000594341,;SIRT6,upstream_gene_variant,,ENST00000600938,;SIRT6,upstream_gene_variant,,ENST00000601069,;	244	54	59	SUCCESS
LYPD3	27076	.	GRCh37	19	43969693	43969693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	34	0	ENST00000244333.3:c.31G>T	p.Ala11Ser	p.A11S	ENST00000244333	NM_014400.2	11	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12620.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCCTGGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10624:SF6,hmmpanther:PTHR10624	.	.	ENSP00000244333	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000244333	Transcript	.	.	ENSG00000124466	24880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.11)	.	LYPD3_HUMAN	LYPD3	HGNC	B2RBR3_HUMAN	.	UPI000000D965	SNV	LYPD3,missense_variant,p.Ala11Ser,ENST00000244333,;LYPD3,non_coding_transcript_exon_variant,,ENST00000597741,;LYPD3,non_coding_transcript_exon_variant,,ENST00000595970,;LYPD3,upstream_gene_variant,,ENST00000594326,;	120	35	33	SUCCESS
PTPRS	5802	.	GRCh37	19	5223017	5223017	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1313647555	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	19	0	ENST00000357368.4:c.2786G>A	p.Arg929His	p.R929H	ENST00000357368	NM_002850.3	929	cGt/cAt	0	-:0.0042	.	.	.	.	T	R/H	protein_coding	YES	CCDS45930.1	2786	MUTECT|MUSE	.	GGCCACGGGGC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	-:0.0014	ENSP00000349932	.	18/38	.	.	.	.	.	.	.	.	TMP_ESP_19_5223017_5223017	18/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.04)	.	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	SNV	PTPRS,missense_variant,p.Arg929His,ENST00000587303,;PTPRS,missense_variant,p.Arg930His,ENST00000372412,;PTPRS,missense_variant,p.Arg907His,ENST00000588012,;PTPRS,missense_variant,p.Arg925His,ENST00000262963,;PTPRS,missense_variant,p.Arg929His,ENST00000357368,;PTPRS,missense_variant,p.Arg907His,ENST00000348075,;PTPRS,intron_variant,,ENST00000353284,;PTPRS,intron_variant,,ENST00000592099,;PTPRS,intron_variant,,ENST00000588552,;PTPRS,upstream_gene_variant,,ENST00000589851,;	3020	19	17	SUCCESS
FCAR	2204	.	GRCh37	19	55396884	55396884	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	80	0	ENST00000355524.3:c.308G>A	p.Arg103Lys	p.R103K	ENST00000355524	NM_002000.2	103	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS12907.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATAGGATAG	NONE	.	.	hmmpanther:PTHR11738:SF4,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000347714	.	3/5	.	.	.	.	.	.	.	.	COSM3539108,COSM3539109	3/5	PASS	ENST00000355524	Transcript	.	.	ENSG00000186431	3608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.031)	.	tolerated(0.23)	1,1	FCAR_HUMAN	FCAR	HGNC	A5Y2F0_HUMAN	.	UPI000011B429	SNV	FCAR,missense_variant,p.Arg103Lys,ENST00000345937,;FCAR,missense_variant,p.Arg103Lys,ENST00000355524,;FCAR,missense_variant,p.Arg91Lys,ENST00000391724,;FCAR,missense_variant,p.Arg91Lys,ENST00000359272,;FCAR,missense_variant,p.Arg91Lys,ENST00000391723,;FCAR,missense_variant,p.Arg103Lys,ENST00000469767,;FCAR,missense_variant,p.Arg91Lys,ENST00000391726,;FCAR,missense_variant,p.Arg103Lys,ENST00000391725,;FCAR,intron_variant,,ENST00000353758,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,missense_variant,p.Arg91Lys,ENST00000488066,;	318	80	79	SUCCESS
ZNF135	7694	.	GRCh37	19	58574854	58574854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	45	88	0	ENST00000313434.5:c.201G>T	p.Glu67Asp	p.E67D	ENST00000313434	NM_003436.3	67	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54329.1	237	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGCAAGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000441410	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Glu25Asp,ENST00000506786,;ZNF135,missense_variant,p.Glu79Asp,ENST00000401053,;ZNF135,missense_variant,p.Glu67Asp,ENST00000313434,;ZNF135,missense_variant,p.Glu79Asp,ENST00000359978,;ZNF135,missense_variant,p.Glu67Asp,ENST00000439855,;ZNF135,missense_variant,p.Glu67Asp,ENST00000511556,;ZNF135,intron_variant,,ENST00000515535,;	240	88	97	SUCCESS
ACSBG2	81616	.	GRCh37	19	6147641	6147641	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	24	92	0	ENST00000586696.1:c.252C>G	p.Asn84Lys	p.N84K	ENST00000586696		84	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS12159.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAACCAGTA	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF129,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	.	.	ENSP00000465589	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000586696	Transcript	.	.	ENSG00000130377	24174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(1)	.	ACBG2_HUMAN	ACSBG2	HGNC	K7ESC8_HUMAN,K7ERT0_HUMAN,K7EL11_HUMAN	.	UPI00001414E6	SNV	ACSBG2,missense_variant,p.Asn84Lys,ENST00000586696,;ACSBG2,missense_variant,p.Asn84Lys,ENST00000591403,;ACSBG2,missense_variant,p.Asn84Lys,ENST00000591738,;ACSBG2,missense_variant,p.Asn84Lys,ENST00000252669,;ACSBG2,missense_variant,p.Asn34Lys,ENST00000588304,;ACSBG2,missense_variant,p.Asn84Lys,ENST00000588722,;ACSBG2,5_prime_UTR_variant,,ENST00000588485,;RFX2,intron_variant,,ENST00000592883,;ACSBG2,downstream_gene_variant,,ENST00000589401,;ACSBG2,missense_variant,p.Asn84Lys,ENST00000587617,;ACSBG2,missense_variant,p.Asn84Lys,ENST00000592677,;	528	92	103	SUCCESS
KPRP	448834	.	GRCh37	1	152733416	152733416	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755668740	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	44	28	0	ENST00000606109.1:c.1352G>T	p.Arg451Leu	p.R451L	ENST00000606109		451	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS30862.1	1352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGCCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	rs755668740	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	tolerated(0.15)	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Arg451Leu,ENST00000368773,;KPRP,missense_variant,p.Arg451Leu,ENST00000606109,;	1410	28	48	SUCCESS
ATP8B2	57198	.	GRCh37	1	154320946	154320946	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368404389	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	89	68	0	ENST00000368489.3:c.3325G>A	p.Val1109Ile	p.V1109I	ENST00000368489	NM_020452.3	1109	Gtc/Atc	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS1066.1	3325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGTCTGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	A:0	.	ENSP00000357475	A:0	27/28	.	.	.	.	.	.	.	.	rs368404389,COSM1295140	27/28	common_in_exac	ENST00000368489	Transcript	.	A:0.0034	ENSG00000143515	13534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	A:0.0174	tolerated(0.71)	0,1	AT8B2_HUMAN	ATP8B2	HGNC	Q6P3T1_HUMAN	.	UPI00001B92AB	SNV	ATP8B2,missense_variant,p.Val1109Ile,ENST00000368489,;ATP8B2,non_coding_transcript_exon_variant,,ENST00000505882,;	3325	68	105	SUCCESS
RUSC1	23623	.	GRCh37	1	155292170	155292170	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	274	206	0	ENST00000368352.5:c.606G>A	p.Arg202=	p.R202=	ENST00000368352	NM_001105203.1	202	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS41410.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGGGCGGA	NONE	.	.	hmmpanther:PTHR15591	.	.	ENSP00000357336	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,synonymous_variant,p.%3D,ENST00000368352,;RUSC1,synonymous_variant,p.%3D,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000443642,;RUSC1-AS1,intron_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000543656,;RUSC1-AS1,upstream_gene_variant,,ENST00000446880,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	757	206	321	SUCCESS
OR6Y1	391112	.	GRCh37	1	158517456	158517456	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	78	68	0	ENST00000302617.3:c.440G>C	p.Gly147Ala	p.G147A	ENST00000302617	NM_001005189.1	147	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS30899.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCCACAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304807	.	1/1	.	.	.	.	.	.	.	.	COSM676150	1/1	PASS	ENST00000302617	Transcript	.	.	ENSG00000197532	14823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.014)	.	tolerated(0.56)	1	OR6Y1_HUMAN	OR6Y1	HGNC	.	.	UPI000004B1E2	SNV	OR6Y1,missense_variant,p.Gly147Ala,ENST00000302617,;	440	68	86	SUCCESS
C1orf111	0	.	GRCh37	1	162344018	162344018	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	87	0	ENST00000367935.5:c.606C>A	p.Ile202=	p.I202=	ENST00000367935	NM_182581.3	202	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1238.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTGATGTG	NONE	.	.	.	.	.	ENSP00000356912	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367935	Transcript	.	.	ENSG00000171722	27648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA111_HUMAN	C1orf111	HGNC	.	.	UPI000013EC35	SNV	C1orf111,synonymous_variant,p.%3D,ENST00000367935,;RP11-565P22.6,intron_variant,,ENST00000431696,;C1orf226,intron_variant,,ENST00000420220,;NOS1AP,downstream_gene_variant,,ENST00000493151,;C1orf226,upstream_gene_variant,,ENST00000426197,;NOS1AP,downstream_gene_variant,,ENST00000361897,;NOS1AP,intron_variant,,ENST00000367932,;C1orf111,downstream_gene_variant,,ENST00000493255,;	686	87	111	SUCCESS
SERTAD4-AS1	574036	.	GRCh37	1	210407337	210407337	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs397861918	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	31	2	ENST00000437764.1:n.53A>T		p.*18*	ENST00000437764				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1494.1	.	SOMATICSNIPER|VARSCANS	.	TTTTTTTTAAA	NONE	.	.	.	.	.	ENSP00000355979	.	.	.	.	.	.	.	.	.	.	rs397861918	.	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,intron_variant,,ENST00000367012,;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000480052,;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000437764,;SERTAD4-AS1,upstream_gene_variant,,ENST00000475406,;SERTAD4,upstream_gene_variant,,ENST00000482421,;SERTAD4,upstream_gene_variant,,ENST00000490620,;SERTAD4,upstream_gene_variant,,ENST00000483884,;	.	33	60	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220406172	220406172	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	157	101	0	ENST00000358951.2:c.149G>T	p.Gly50Val	p.G50V	ENST00000358951	NM_012414.3	50	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31028.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTCCCCAA	NONE	.	.	hmmpanther:PTHR12472	.	.	ENSP00000351832	.	2/35	.	.	.	.	.	.	.	.	.	2/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	deleterious_low_confidence(0.03)	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,missense_variant,p.Gly50Val,ENST00000358951,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000475769,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,missense_variant,p.Gly50Val,ENST00000474178,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000237724,;	266	101	188	SUCCESS
SPOCD1	90853	.	GRCh37	1	32256443	32256443	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	46	71	0	ENST00000360482.2:c.3412C>T	p.His1138Tyr	p.H1138Y	ENST00000360482	NM_144569.4	1138	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS347.1	3412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGCTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914	.	.	ENSP00000353670	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000360482	Transcript	.	.	ENSG00000134668	26338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.06)	.	SPOC1_HUMAN	SPOCD1	HGNC	E9PMX0_HUMAN,E9PKC3_HUMAN	.	UPI000035E7DD	SNV	SPOCD1,missense_variant,p.His561Tyr,ENST00000452755,;SPOCD1,missense_variant,p.His618Tyr,ENST00000257100,;SPOCD1,missense_variant,p.His1138Tyr,ENST00000360482,;SPOCD1,missense_variant,p.His1125Tyr,ENST00000533231,;SPOCD1,3_prime_UTR_variant,,ENST00000373648,;SPOCD1,downstream_gene_variant,,ENST00000528579,;RP11-84A19.3,intron_variant,,ENST00000527035,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000473361,;SPOCD1,downstream_gene_variant,,ENST00000485944,;SPOCD1,downstream_gene_variant,,ENST00000460061,;SPOCD1,downstream_gene_variant,,ENST00000532604,;SPOCD1,downstream_gene_variant,,ENST00000468720,;SPOCD1,downstream_gene_variant,,ENST00000531039,;	3542	71	63	SUCCESS
HOOK1	51361	.	GRCh37	1	60324102	60324102	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	156	228	0	ENST00000371208.3:c.1245A>G		p.X415_splice	ENST00000371208	NM_015888.4	415	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS612.1	1245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGACTAAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF33,Pfam_domain:PF05622	.	.	ENSP00000360252	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000371208	Transcript	.	.	ENSG00000134709	19884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HOOK1_HUMAN	HOOK1	HGNC	B1AK95_HUMAN,A8MU44_HUMAN	.	UPI0000071E61	SNV	HOOK1,synonymous_variant,p.%3D,ENST00000371208,;HOOK1,synonymous_variant,p.%3D,ENST00000395561,;HOOK1,splice_region_variant,,ENST00000465876,;HOOK1,upstream_gene_variant,,ENST00000474695,;	1502	228	192	SUCCESS
TAS1R1	80835	.	GRCh37	1	6635435	6635435	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs772335281	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	30	56	0	ENST00000333172.6:c.1243C>T	p.Arg415Ter	p.R415*	ENST00000333172	NM_138697.3	415	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS81.1	1243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCGAGTC	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	.	.	ENSP00000331867	.	3/6	.	.	.	.	.	.	.	.	rs772335281	3/6	PASS	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,stop_gained,p.Arg415Ter,ENST00000333172,;TAS1R1,stop_gained,p.Arg415Ter,ENST00000328191,;TAS1R1,stop_gained,p.Arg341Ter,ENST00000411823,;TAS1R1,intron_variant,,ENST00000415267,;TAS1R1,intron_variant,,ENST00000351136,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;ZBTB48,upstream_gene_variant,,ENST00000377674,;ZBTB48,upstream_gene_variant,,ENST00000319084,;	1436	57	42	SUCCESS
PCSK2	5126	.	GRCh37	20	17240976	17240976	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	50	110	0	ENST00000262545.2:c.269A>G	p.Glu90Gly	p.E90G	ENST00000262545	NM_002594.3	90	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS13125.1	269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGAGAG	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Gene3D:1kn6A00,Superfamily_domains:SSF54897	.	.	ENSP00000262545	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000262545	Transcript	.	.	ENSG00000125851	8744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.11)	.	NEC2_HUMAN	PCSK2	HGNC	Q9UM69_HUMAN	.	UPI0000000C6E	SNV	PCSK2,missense_variant,p.Glu90Gly,ENST00000262545,;PCSK2,missense_variant,p.Glu71Gly,ENST00000377899,;PCSK2,intron_variant,,ENST00000536609,;PCSK2,non_coding_transcript_exon_variant,,ENST00000470007,;	584	110	94	SUCCESS
CST9L	128821	.	GRCh37	20	23546707	23546707	+	synonymous_variant	Silent	SNP	T	T	C	rs765355598	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	112	0	ENST00000376979.3:c.258A>G	p.Val86=	p.V86=	ENST00000376979	NM_080610.2	86	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS13157.1	258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAATACAGT	NONE	.	.	hmmpanther:PTHR11413:SF22,hmmpanther:PTHR11413,Pfam_domain:PF00031,Gene3D:3.10.450.10,Superfamily_domains:SSF54403	.	.	ENSP00000366178	.	2/3	.	.	.	.	.	.	.	.	rs765355598	2/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,synonymous_variant,p.%3D,ENST00000376979,;	557	112	75	SUCCESS
TTLL9	164395	.	GRCh37	20	30522615	30522615	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	97	0	ENST00000375938.4:c.928C>T	p.Gln310Ter	p.Q310*	ENST00000375938		310	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS42863.1	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCAGAAG	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF39,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000365105	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000375938	Transcript	.	.	ENSG00000131044	16118	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL9_HUMAN	TTLL9	HGNC	.	.	UPI00001998D0	SNV	TTLL9,stop_gained,p.Gln310Ter,ENST00000375938,;TTLL9,stop_gained,p.Gln252Ter,ENST00000375922,;TTLL9,stop_gained,p.Gln275Ter,ENST00000310998,;TTLL9,stop_gained,p.Gln310Ter,ENST00000535842,;TTLL9,synonymous_variant,p.%3D,ENST00000375934,;TTLL9,intron_variant,,ENST00000375921,;	1181	97	88	SUCCESS
RP11-410N8.4	0	.	GRCh37	20	31189326	31189326	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	31	0	ENST00000375670.1:c.-143C>G		p.*48*	ENST00000375670				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTCAGGAA	NONE	.	.	.	.	.	ENSP00000364822	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000375670	Transcript	.	.	ENSG00000204393	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	YT011_HUMAN	RP11-410N8.4	Clone_based_vega_gene	.	.	UPI0000160B7F	SNV	RP11-410N8.4,5_prime_UTR_variant,,ENST00000375670,;RP11-410N8.4,upstream_gene_variant,,ENST00000375671,;	90	31	34	SUCCESS
BPIFA2	140683	.	GRCh37	20	31768351	31768351	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	110	0	ENST00000253362.2:c.735G>T	p.Leu245=	p.L245=	ENST00000253362		245	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13214.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGCAAAC	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF6	.	.	ENSP00000253362	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000253362	Transcript	.	.	ENSG00000131050	16203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIA2_HUMAN	BPIFA2	HGNC	.	.	UPI00000361E3	SNV	BPIFA2,synonymous_variant,p.%3D,ENST00000354932,;BPIFA2,synonymous_variant,p.%3D,ENST00000253362,;	881	110	108	SUCCESS
PCK1	5105	.	GRCh37	20	56140768	56140769	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	123	59	135	0	ENST00000319441.4:c.1779_1780del	p.Lys594ValfsTer13	p.K594Vfs*13	ENST00000319441	NM_002591.3	593	GAg/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS13460.1	1777-1778	INDELOCATOR*|VARSCANI*|PINDEL	.	GACATCGAGAAGT	NONE	.	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.90.228.20,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795	.	.	ENSP00000319814	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	deletion	PCK1,frameshift_variant,p.Lys594ValfsTer13,ENST00000319441,;PCK1,frameshift_variant,p.Lys277ValfsTer13,ENST00000543666,;PCK1,downstream_gene_variant,,ENST00000535860,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;PCK1,downstream_gene_variant,,ENST00000485958,;	1941-1942	135	182	SUCCESS
DPH3P1	100132911	.	GRCh37	20	61477012	61477012	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	rs541713023	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	90	0	ENST00000502378.2:n.523G>C		p.*175*	ENST00000502378				0	.	A:0.0008	.	A:0	.	C	.	protein_coding	YES	CCDS13506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTGACCAT	NONE	by1000G	.	.	A:0	.	ENSP00000334294	A:0	.	.	.	.	.	.	.	.	.	rs541713023	.	PASS	ENST00000335351	Transcript	.	A:0.0002	ENSG00000101190	11646	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TCFL5_HUMAN	TCFL5	HGNC	.	.	UPI0000206389	SNV	TCFL5,3_prime_UTR_variant,,ENST00000217162,;TCFL5,intron_variant,,ENST00000335351,;COL9A3,downstream_gene_variant,,ENST00000343916,;COL9A3,downstream_gene_variant,,ENST00000467819,;COL9A3,downstream_gene_variant,,ENST00000462700,;COL9A3,downstream_gene_variant,,ENST00000466192,;DPH3P1,non_coding_transcript_exon_variant,,ENST00000502378,;DPH3P1,upstream_gene_variant,,ENST00000486648,;	.	91	105	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19687499	19687499	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	71	0	ENST00000284885.3:c.1996C>G	p.Leu666Val	p.L666V	ENST00000284885	NM_002772.2	666	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS13571.1	1996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGATGAC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000284885	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.41)	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,missense_variant,p.Leu666Val,ENST00000284885,;	2030	71	80	SUCCESS
TRAPPC10	7109	.	GRCh37	21	45504036	45504036	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	44	0	ENST00000291574.4:c.2272C>T	p.Leu758=	p.L758=	ENST00000291574	NM_003274.4	758	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13704.1	2272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCTGTGC	NONE	.	.	hmmpanther:PTHR13251	.	.	ENSP00000291574	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000291574	Transcript	.	.	ENSG00000160218	11868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPC10_HUMAN	TRAPPC10	HGNC	Q76NH5_HUMAN	.	UPI0000129E26	SNV	TRAPPC10,synonymous_variant,p.%3D,ENST00000291574,;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,downstream_gene_variant,,ENST00000461889,;TRAPPC10,downstream_gene_variant,,ENST00000481460,;TRAPPC10,upstream_gene_variant,,ENST00000459741,;	2447	44	64	SUCCESS
IGLV7-46	28775	.	GRCh37	22	22724018	22724018	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	74	158	0	ENST00000390295.2:c.3G>T	p.Met1?	p.M1?	ENST00000390295		1	atG/atT	0	.	.	.	.	.	T	M/I	IG_V_gene	YES	.	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATGGCCTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000374830	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000390295	Transcript	.	.	ENSG00000211649	5930	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGLV7-46	HGNC	Q5NV83_HUMAN	.	UPI0000F30335	SNV	IGLV7-46,start_lost,p.Met1?,ENST00000390295,;LL22NC03-22A12.12,upstream_gene_variant,,ENST00000443400,;LL22NC03-22A12.9,downstream_gene_variant,,ENST00000453999,;	37	158	160	SUCCESS
SLC2A11	66035	.	GRCh37	22	24224833	24224833	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs199527068	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	25	29	0	ENST00000345044.6:c.873G>T		p.X291_splice	ENST00000345044		291	tcG/tcT	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS13818.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCGGTGAG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,hmmpanther:PTHR24063:SF5,hmmpanther:PTHR24063,PROSITE_profiles:PS50850	A:0.001	.	ENSP00000381399	A:0	8/13	.	.	.	.	.	.	.	.	rs199527068	8/13	PASS	ENST00000398356	Transcript	.	A:0.0002	ENSG00000133460	14239	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GTR11_HUMAN	SLC2A11	HGNC	Q8TDC5_HUMAN,Q496K8_HUMAN	.	UPI000013CED4	SNV	SLC2A11,synonymous_variant,p.%3D,ENST00000316185,;SLC2A11,synonymous_variant,p.%3D,ENST00000398356,;SLC2A11,synonymous_variant,p.%3D,ENST00000345044,;AP000350.10,intron_variant,,ENST00000433835,;RN7SL268P,upstream_gene_variant,,ENST00000491172,;SLC2A11,splice_region_variant,,ENST00000482576,;SLC2A11,splice_region_variant,,ENST00000405286,;SLC2A11,splice_region_variant,,ENST00000472526,;SLC2A11,splice_region_variant,,ENST00000467660,;SLC2A11,splice_region_variant,,ENST00000255830,;SLC2A11,splice_region_variant,,ENST00000489322,;SLC2A11,splice_region_variant,,ENST00000405340,;SLC2A11,splice_region_variant,,ENST00000473357,;SLC2A11,splice_region_variant,,ENST00000461809,;SLC2A11,upstream_gene_variant,,ENST00000486907,;	1083	30	41	SUCCESS
MYO18B	84700	.	GRCh37	22	26164107	26164107	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs774065337	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	65	249	0	ENST00000536101.1:c.224C>G	p.Pro75Arg	p.P75R	ENST00000536101		75	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS54507.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCCAACA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	4/44	.	.	.	.	.	.	.	.	rs774065337	4/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious_low_confidence(0)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Pro75Arg,ENST00000335473,;MYO18B,missense_variant,p.Pro75Arg,ENST00000407587,;MYO18B,missense_variant,p.Pro75Arg,ENST00000536101,;MYO18B,missense_variant,p.Pro75Arg,ENST00000539302,;MYO18B,upstream_gene_variant,,ENST00000418374,;	474	249	248	SUCCESS
GATSL3	0	.	GRCh37	22	30685503	30685503	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	12	0	ENST00000407689.3:c.-17G>C		p.*6*	ENST00000407689	NM_001037666.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43001.1	.	MUTECT|MUSE	.	CGGACCCGACC	NONE	.	.	.	.	.	ENSP00000384183	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000407689	Transcript	.	.	ENSG00000239282	34423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GATL3_HUMAN	GATSL3	HGNC	.	.	UPI0000071943	SNV	GATSL3,5_prime_UTR_variant,,ENST00000404953,;GATSL3,5_prime_UTR_variant,,ENST00000407689,;RP1-130H16.18,intron_variant,,ENST00000434291,;TBC1D10A,downstream_gene_variant,,ENST00000215790,;TBC1D10A,downstream_gene_variant,,ENST00000403362,;TBC1D10A,downstream_gene_variant,,ENST00000403477,;TBC1D10A,downstream_gene_variant,,ENST00000393906,;GATSL3,non_coding_transcript_exon_variant,,ENST00000498572,;GATSL3,upstream_gene_variant,,ENST00000459785,;GATSL3,upstream_gene_variant,,ENST00000464854,;GATSL3,5_prime_UTR_variant,,ENST00000425691,;GATSL3,5_prime_UTR_variant,,ENST00000421236,;GATSL3,5_prime_UTR_variant,,ENST00000440839,;GATSL3,non_coding_transcript_exon_variant,,ENST00000471480,;GATSL3,non_coding_transcript_exon_variant,,ENST00000463795,;GATSL3,non_coding_transcript_exon_variant,,ENST00000497605,;RP1-130H16.18,intron_variant,,ENST00000434987,;RP1-130H16.18,intron_variant,,ENST00000447976,;RP1-130H16.18,intron_variant,,ENST00000330168,;RP1-130H16.18,intron_variant,,ENST00000418047,;GATSL3,upstream_gene_variant,,ENST00000492159,;TBC1D10A,downstream_gene_variant,,ENST00000466666,;TBC1D10A,downstream_gene_variant,,ENST00000437122,;TBC1D10A,downstream_gene_variant,,ENST00000433426,;TBC1D10A,downstream_gene_variant,,ENST00000467596,;GATSL3,upstream_gene_variant,,ENST00000415484,;GATSL3,upstream_gene_variant,,ENST00000440704,;TBC1D10A,downstream_gene_variant,,ENST00000462073,;	114	12	10	SUCCESS
CELSR1	9620	.	GRCh37	22	46930838	46930838	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	35	0	ENST00000262738.3:c.2230A>G	p.Ile744Val	p.I744V	ENST00000262738	NM_014246.1	744	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14076.1	2230	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGATGAGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268	.	.	ENSP00000262738	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.35)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Ile744Val,ENST00000262738,;CELSR1,missense_variant,p.Ile744Val,ENST00000395964,;CELSR1,missense_variant,p.Ile119Val,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	2230	35	34	SUCCESS
SH3RF3	344558	.	GRCh37	2	109964184	109964184	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1157040571	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	138	0	ENST00000309415.6:c.628C>A	p.Pro210Thr	p.P210T	ENST00000309415	NM_001099289.1	210	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	628	MUTECT|MUSE|VARSCANS	.	AGGAACCTGGT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00499	.	.	ENSP00000309186	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Pro210Thr,ENST00000309415,;SH3RF3,missense_variant,p.Pro210Thr,ENST00000418513,;	628	138	81	SUCCESS
SNTG2	54221	.	GRCh37	2	1241790	1241790	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs756989662	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	43	0	ENST00000308624.5:c.849+1G>A		p.X283_splice	ENST00000308624	NM_018968.3	283		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACGTGAGC	NONE	byFrequency	.	.	.	.	ENSP00000311837	.	.	.	.	.	.	.	.	.	.	rs756989662	.	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	HIGH	10/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,splice_donor_variant,,ENST00000308624,;SNTG2,splice_donor_variant,,ENST00000407292,;SNTG2,intron_variant,,ENST00000494178,;	.	43	46	SUCCESS
MAP3K19	80122	.	GRCh37	2	135757513	135757513	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	53	0	ENST00000375845.3:c.308A>T	p.Glu103Val	p.E103V	ENST00000375845	NM_025052.3	103	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2176.2	308	RADIA|MUTECT|VARSCANS	.	TCTTTTCTTTT	NONE	.	.	hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	.	.	ENSP00000365005	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.489)	.	deleterious(0.01)	.	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,missense_variant,p.Glu103Val,ENST00000392917,;MAP3K19,missense_variant,p.Glu75Val,ENST00000425952,;MAP3K19,missense_variant,p.Glu103Val,ENST00000375844,;MAP3K19,missense_variant,p.Glu103Val,ENST00000375845,;MAP3K19,missense_variant,p.Glu103Val,ENST00000392918,;MAP3K19,missense_variant,p.Glu120Val,ENST00000392915,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000358371,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000468155,;	339	53	40	SUCCESS
MAP3K19	80122	.	GRCh37	2	135757514	135757514	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	55	1	ENST00000375845.3:c.307G>T	p.Glu103Ter	p.E103*	ENST00000375845	NM_025052.3	103	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2176.2	307	RADIA|MUTECT	.	CTTTTCTTTTA	NONE	.	.	hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	.	.	ENSP00000365005	.	4/10	.	.	.	.	.	.	.	.	COSM350372	4/10	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,stop_gained,p.Glu103Ter,ENST00000392917,;MAP3K19,stop_gained,p.Glu75Ter,ENST00000425952,;MAP3K19,stop_gained,p.Glu103Ter,ENST00000375844,;MAP3K19,stop_gained,p.Glu103Ter,ENST00000375845,;MAP3K19,stop_gained,p.Glu103Ter,ENST00000392918,;MAP3K19,stop_gained,p.Glu120Ter,ENST00000392915,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000358371,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000468155,;	338	56	43	SUCCESS
SLC4A10	57282	.	GRCh37	2	162719562	162719562	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	85	127	0	ENST00000446997.1:c.756G>T	p.Met252Ile	p.M252I	ENST00000446997	NM_001178015.1	252	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS54411.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGGACAA	NONE	.	.	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Gene3D:1hynR00,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804	.	.	ENSP00000393066	.	6/27	.	.	.	.	.	.	.	.	COSM3568427,COSM3568426,COSM3568425	6/27	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.048)	.	tolerated(0.15)	1,1,1	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,missense_variant,p.Met252Ile,ENST00000446997,;SLC4A10,missense_variant,p.Met252Ile,ENST00000421911,;SLC4A10,missense_variant,p.Met252Ile,ENST00000272716,;SLC4A10,missense_variant,p.Met252Ile,ENST00000535165,;SLC4A10,missense_variant,p.Met252Ile,ENST00000415876,;SLC4A10,missense_variant,p.Met263Ile,ENST00000375514,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000461456,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,missense_variant,p.Met252Ile,ENST00000446228,;	849	127	102	SUCCESS
MYO3B	140469	.	GRCh37	2	171092541	171092541	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	68	0	ENST00000408978.4:c.644C>A	p.Ala215Asp	p.A215D	ENST00000408978	NM_138995.4	215	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS42773.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGCTCGCT	BUFFER|p.D214D|c.642C>T|3,BUFFER|p.D214D|c.642C>T|3	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS50011	.	.	ENSP00000386213	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Ala224Asp,ENST00000484338,;MYO3B,missense_variant,p.Ala215Asp,ENST00000442690,;MYO3B,missense_variant,p.Ala215Asp,ENST00000408978,;MYO3B,missense_variant,p.Ala224Asp,ENST00000334231,;MYO3B,missense_variant,p.Ala215Asp,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.Ala215Asp,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	787	68	72	SUCCESS
APOB	338	.	GRCh37	2	21246408	21246408	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs150005693	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	61	69	0	ENST00000233242.1:c.2593G>T	p.Glu865Ter	p.E865*	ENST00000233242	NM_000384.2	865	Gaa/Taa	0	T:0	.	.	.	.	A	E/*	protein_coding	YES	CCDS1703.1	2593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCCAGTT	NONE	byCluster	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,Superfamily_domains:SSF56968	.	T:0.0002	ENSP00000233242	.	17/29	.	.	.	.	.	.	.	.	rs150005693	17/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,stop_gained,p.Glu865Ter,ENST00000233242,;APOB,downstream_gene_variant,,ENST00000399256,;	2721	69	96	SUCCESS
CHPF	79586	.	GRCh37	2	220404347	220404347	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142415191	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	47	181	0	ENST00000243776.6:c.2086G>A	p.Glu696Lys	p.E696K	ENST00000243776	NM_024536.5	696	Gaa/Aaa	0	T:0.0002	G:0.0008	.	G:0	.	T	E/K	protein_coding	YES	CCDS2443.1	2086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTCTGAGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369,Pfam_domain:PF05679	G:0	T:0.0001	ENSP00000243776	G:0	4/4	.	.	.	.	.	.	.	.	rs142415191,COSM3578051,COSM3718589	4/4	PASS	ENST00000243776	Transcript	.	G:0.0002	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.01)	G:0	tolerated(0.85)	0,1,1	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Glu696Lys,ENST00000243776,;CHPF,missense_variant,p.Glu534Lys,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	2335	181	150	SUCCESS
DPYSL5	56896	.	GRCh37	2	27156187	27156187	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs758066334	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	56	90	0	ENST00000288699.6:c.776C>G	p.Ala259Gly	p.A259G	ENST00000288699	NM_001253724.1	259	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS1730.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGCTGCTA	NONE	.	.	hmmpanther:PTHR11647:SF58,hmmpanther:PTHR11647,Gene3D:3.20.20.140,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	.	ENSP00000288699	.	7/13	.	.	.	.	.	.	.	.	rs758066334	7/13	PASS	ENST00000288699	Transcript	.	.	ENSG00000157851	20637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.11)	.	DPYL5_HUMAN	DPYSL5	HGNC	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN	.	UPI00000411CF	SNV	DPYSL5,missense_variant,p.Ala259Gly,ENST00000288699,;DPYSL5,missense_variant,p.Ala259Gly,ENST00000401478,;	934	90	114	SUCCESS
FEZ2	9637	.	GRCh37	2	36808548	36808548	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	14	132	0	ENST00000405912.3:c.519G>A	p.Met173Ile	p.M173I	ENST00000405912	NM_005102.2	173	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS46258.1	519	MUTECT|MUSE|VARSCANS	.	TCCTGCATCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12394,hmmpanther:PTHR12394:SF11,Pfam_domain:PF07763	.	.	ENSP00000368547	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000379245	Transcript	.	.	ENSG00000171055	3660	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	FEZ2_HUMAN	FEZ2	HGNC	Q6P2J5_HUMAN,F8WB37_HUMAN	.	UPI0000DACAC0	SNV	FEZ2,missense_variant,p.Met2Ile,ENST00000305852,;FEZ2,missense_variant,p.Met173Ile,ENST00000379245,;FEZ2,missense_variant,p.Met72Ile,ENST00000357996,;FEZ2,missense_variant,p.Met173Ile,ENST00000405912,;FEZ2,upstream_gene_variant,,ENST00000441005,;FEZ2,non_coding_transcript_exon_variant,,ENST00000464964,;FEZ2,upstream_gene_variant,,ENST00000487282,;FEZ2,missense_variant,p.Met173Ile,ENST00000451623,;FEZ2,3_prime_UTR_variant,,ENST00000413938,;FEZ2,upstream_gene_variant,,ENST00000414288,;	568	132	157	SUCCESS
CEP68	23177	.	GRCh37	2	65300211	65300211	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	51	0	ENST00000377990.2:c.1884+97G>A		p.*628*	ENST00000377990	NM_015147.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1880.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGCACTT	NONE	.	.	.	.	.	ENSP00000367229	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377990	Transcript	.	.	ENSG00000011523	29076	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEP68_HUMAN	CEP68	HGNC	Q53RN6_HUMAN	.	UPI0000505465	SNV	CEP68,missense_variant,p.Ala273Thr,ENST00000537589,;CEP68,intron_variant,,ENST00000260569,;CEP68,intron_variant,,ENST00000546106,;CEP68,intron_variant,,ENST00000377990,;RAB1A,intron_variant,,ENST00000494188,;CEP68,intron_variant,,ENST00000497039,;CEP68,downstream_gene_variant,,ENST00000475851,;	.	51	54	SUCCESS
CNGA3	1261	.	GRCh37	2	99013401	99013401	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763041373	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	52	0	ENST00000272602.2:c.1768G>A	p.Glu590Lys	p.E590K	ENST00000272602		590	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2034.1	1768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCGAGTAC	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Pfam_domain:PF00027,Gene3D:2.60.120.10,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390,PROSITE_profiles:PS50042	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	rs763041373,CM051026	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.981)	.	deleterious(0)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Glu594Lys,ENST00000409937,;CNGA3,missense_variant,p.Glu590Lys,ENST00000393504,;CNGA3,missense_variant,p.Glu572Lys,ENST00000436404,;CNGA3,missense_variant,p.Glu590Lys,ENST00000272602,;	2185	52	50	SUCCESS
MYH15	22989	.	GRCh37	3	108203979	108203979	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	63	0	ENST00000273353.3:c.1133A>G	p.Gln378Arg	p.Q378R	ENST00000273353	NM_014981.1	378	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS43127.1	1133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTGTTTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000273353	.	12/42	.	.	.	.	.	.	.	.	.	12/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.01)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Gln378Arg,ENST00000273353,;	1190	63	64	SUCCESS
SLC35A5	55032	.	GRCh37	3	112300032	112300032	+	synonymous_variant	Silent	SNP	C	C	T	rs1217218625	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	39	110	0	ENST00000492406.1:c.1068C>T	p.Ser356=	p.S356=	ENST00000492406	NM_017945.3	356	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2967.1	1068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCCTGGA	NONE	.	.	hmmpanther:PTHR10231,hmmpanther:PTHR10231:SF40,Pfam_domain:PF04142,TIGRFAM_domain:TIGR00803,PIRSF_domain:PIRSF005799	.	.	ENSP00000417654	.	6/7	.	.	.	.	.	.	.	.	COSM3585404	6/7	PASS	ENST00000492406	Transcript	.	.	ENSG00000138459	20792	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	S35A5_HUMAN	SLC35A5	HGNC	C9JXZ8_HUMAN,C9J7U8_HUMAN,B4DMD4_HUMAN	.	UPI0000048EAD	SNV	SLC35A5,synonymous_variant,p.%3D,ENST00000492406,;SLC35A5,downstream_gene_variant,,ENST00000484995,;SLC35A5,non_coding_transcript_exon_variant,,ENST00000460713,;SLC35A5,missense_variant,p.Pro199Leu,ENST00000261034,;SLC35A5,intron_variant,,ENST00000494706,;SLC35A5,downstream_gene_variant,,ENST00000460615,;	1351	110	124	SUCCESS
CCDC80	151887	.	GRCh37	3	112326103	112326103	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1306438190	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	16	79	0	ENST00000206423.3:c.2426G>A	p.Gly809Asp	p.G809D	ENST00000206423	NM_199512.1	809	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2968.1	2426	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACCTGAG	NONE	.	.	Pfam_domain:PF13778,hmmpanther:PTHR19325	.	.	ENSP00000206423	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Gly87Asp,ENST00000479368,;CCDC80,missense_variant,p.Gly809Asp,ENST00000206423,;CCDC80,missense_variant,p.Gly809Asp,ENST00000439685,;CCDC80,intron_variant,,ENST00000461431,;	3380	79	112	SUCCESS
KLF15	28999	.	GRCh37	3	126062613	126062613	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	43	206	0	ENST00000296233.3:c.1208A>T	p.His403Leu	p.H403L	ENST00000296233	NM_014079.3	403	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS3036.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGTGCACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23223:SF146,hmmpanther:PTHR23223,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000296233	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296233	Transcript	.	.	ENSG00000163884	14536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.02)	.	KLF15_HUMAN	KLF15	HGNC	.	.	UPI0000001659	SNV	KLF15,missense_variant,p.His403Leu,ENST00000296233,;	1439	206	175	SUCCESS
ABTB1	80325	.	GRCh37	3	127396682	127396682	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	37	0	ENST00000232744.8:c.1025C>T	p.Thr342Ile	p.T342I	ENST00000232744		342	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS3045.1	1025	RADIA|VARSCANS	.	CCACACTGAGG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24413:SF83,hmmpanther:PTHR24413,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000232744	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000232744	Transcript	.	.	ENSG00000114626	18275	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.324)	.	tolerated(0.13)	.	ABTB1_HUMAN	ABTB1	HGNC	.	.	UPI0000035DA3	SNV	ABTB1,missense_variant,p.Thr200Ile,ENST00000453791,;ABTB1,missense_variant,p.Thr200Ile,ENST00000468137,;ABTB1,missense_variant,p.Thr342Ile,ENST00000232744,;ABTB1,missense_variant,p.Thr200Ile,ENST00000393363,;ABTB1,non_coding_transcript_exon_variant,,ENST00000491633,;ABTB1,downstream_gene_variant,,ENST00000466612,;ABTB1,downstream_gene_variant,,ENST00000467179,;ABTB1,missense_variant,p.Thr125Ile,ENST00000497162,;ABTB1,3_prime_UTR_variant,,ENST00000475042,;ABTB1,non_coding_transcript_exon_variant,,ENST00000478298,;ABTB1,non_coding_transcript_exon_variant,,ENST00000464431,;ABTB1,non_coding_transcript_exon_variant,,ENST00000474129,;ABTB1,downstream_gene_variant,,ENST00000479280,;ABTB1,downstream_gene_variant,,ENST00000483857,;ABTB1,downstream_gene_variant,,ENST00000475265,;ABTB1,downstream_gene_variant,,ENST00000493365,;	1111	37	37	SUCCESS
COL6A5	256076	.	GRCh37	3	130103715	130103715	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	61	96	0	ENST00000312481.7:c.1369C>A	p.Gln457Lys	p.Q457K	ENST00000312481		457	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	.	1369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACAGTTT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.02)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Gln457Lys,ENST00000432398,;COL6A5,missense_variant,p.Gln457Lys,ENST00000265379,;COL6A5,missense_variant,p.Gln457Lys,ENST00000312481,;	1863	96	118	SUCCESS
COL6A5	256076	.	GRCh37	3	130103724	130103724	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	58	99	0	ENST00000312481.7:c.1378C>G	p.Gln460Glu	p.Q460E	ENST00000312481		460	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	.	1378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCAAATC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(1)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Gln460Glu,ENST00000432398,;COL6A5,missense_variant,p.Gln460Glu,ENST00000265379,;COL6A5,missense_variant,p.Gln460Glu,ENST00000312481,;	1872	99	116	SUCCESS
TSC22D2	9819	.	GRCh37	3	150127752	150127752	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	24	96	0	ENST00000361875.3:c.615C>T	p.Ser205=	p.S205=	ENST00000361875	NM_014779.2	205	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3149.1	615	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCAGTAC	NONE	.	.	hmmpanther:PTHR12348:SF19,hmmpanther:PTHR12348	.	.	ENSP00000354543	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000361875	Transcript	.	.	ENSG00000196428	29095	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T22D2_HUMAN	TSC22D2	HGNC	.	.	UPI00000722E0	SNV	TSC22D2,synonymous_variant,p.%3D,ENST00000361875,;TSC22D2,synonymous_variant,p.%3D,ENST00000361136,;TSC22D2,upstream_gene_variant,,ENST00000466814,;TSC22D2,upstream_gene_variant,,ENST00000480589,;TSC22D2,upstream_gene_variant,,ENST00000485421,;	1631	96	107	SUCCESS
WDR49	151790	.	GRCh37	3	167277885	167277885	+	synonymous_variant	Silent	SNP	C	C	T	rs982125054	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	31	91	0	ENST00000308378.3:c.618G>A	p.Arg206=	p.R206=	ENST00000308378	NM_178824.3	206	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3201.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGCCGAGT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000311343	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,synonymous_variant,p.%3D,ENST00000466760,;WDR49,synonymous_variant,p.%3D,ENST00000472600,;WDR49,synonymous_variant,p.%3D,ENST00000453925,;WDR49,synonymous_variant,p.%3D,ENST00000476376,;WDR49,synonymous_variant,p.%3D,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;WDR49,intron_variant,,ENST00000460448,;	924	91	126	SUCCESS
EPHB3	2049	.	GRCh37	3	184295208	184295208	+	synonymous_variant	Silent	SNP	C	C	A	rs747285934	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	182	337	0	ENST00000330394.2:c.1432C>A	p.Arg478=	p.R478=	ENST00000330394	NM_004443.3	478	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS3268.1	1432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCGGCCC	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000332118	.	6/16	.	.	.	.	.	.	.	.	rs747285934	6/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,synonymous_variant,p.%3D,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,upstream_gene_variant,,ENST00000482987,;EPHB3,upstream_gene_variant,,ENST00000473079,;	1884	337	344	SUCCESS
LMLN	89782	.	GRCh37	3	197687166	197687166	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs547037533	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	84	0	ENST00000330198.4:c.74G>T	p.Gly25Val	p.G25V	ENST00000330198	NM_033029.3	25	gGc/gTc	0	.	A:0	.	A:0	.	T	G/V	protein_coding	YES	CCDS46988.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGCCGGA	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0.001	.	ENSP00000410926	A:0	1/17	.	.	.	.	.	.	.	.	rs547037533	1/17	PASS	ENST00000420910	Transcript	.	A:0.0002	ENSG00000185621	15991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	A:0	deleterious_low_confidence(0.01)	.	LMLN_HUMAN	LMLN	HGNC	B4DR62_HUMAN	.	UPI000192C367	SNV	LMLN,missense_variant,p.Gly25Val,ENST00000330198,;LMLN,missense_variant,p.Gly25Val,ENST00000420910,;LMLN,synonymous_variant,p.%3D,ENST00000332636,;LMLN,synonymous_variant,p.%3D,ENST00000482695,;LMLN,intron_variant,,ENST00000419117,;IQCG,upstream_gene_variant,,ENST00000265239,;RPL35A,downstream_gene_variant,,ENST00000464167,;RPL35A,downstream_gene_variant,,ENST00000448864,;IQCG,upstream_gene_variant,,ENST00000416896,;IQCG,upstream_gene_variant,,ENST00000480302,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;IQCG,upstream_gene_variant,,ENST00000493624,;RPL35A,downstream_gene_variant,,ENST00000474640,;RPL35A,downstream_gene_variant,,ENST00000439255,;RPL35A,downstream_gene_variant,,ENST00000429437,;	74	84	104	SUCCESS
CDCP1	64866	.	GRCh37	3	45153829	45153829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	85	130	0	ENST00000296129.1:c.401G>T	p.Ser134Ile	p.S134I	ENST00000296129	NM_022842.4	134	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS2727.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCTCTTA	NONE	.	.	hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	.	.	ENSP00000296129	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000296129	Transcript	.	.	ENSG00000163814	24357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.533)	.	deleterious(0.05)	.	CDCP1_HUMAN	CDCP1	HGNC	.	.	UPI000013E304	SNV	CDCP1,missense_variant,p.Ser134Ile,ENST00000425231,;CDCP1,missense_variant,p.Ser134Ile,ENST00000296129,;CDCP1,non_coding_transcript_exon_variant,,ENST00000490471,;	536	130	147	SUCCESS
NBEAL2	23218	.	GRCh37	3	47043973	47043973	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775767147	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	26	52	0	ENST00000450053.3:c.5264G>T	p.Arg1755Leu	p.R1755L	ENST00000450053	NM_015175.2	1755	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS46817.1	5264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGCCAGT	NONE	byFrequency	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	.	ENSP00000415034	.	32/54	.	.	.	.	.	.	.	.	rs775767147,COSM730729,COSM730728	32/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.048)	.	deleterious(0)	0,1,1	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Arg1755Leu,ENST00000450053,;NBEAL2,missense_variant,p.Arg1571Leu,ENST00000292309,;NBEAL2,missense_variant,p.Arg1043Leu,ENST00000416683,;NBEAL2,missense_variant,p.Arg34Leu,ENST00000383740,;NBEAL2,missense_variant,p.Arg124Leu,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000477412,;	5443	52	44	SUCCESS
SETD2	29072	.	GRCh37	3	47155493	47155493	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	11	107	0	ENST00000409792.3:c.4588T>A	p.Ser1530Thr	p.S1530T	ENST00000409792	NM_014159.6	1530	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS2749.2	4588	MUTECT|MUSE	.	AGAAGAACTGA	NONE	.	.	PROSITE_profiles:PS51215,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294,Gene3D:2.170.270.10,SMART_domains:SM00570,Superfamily_domains:SSF82199	.	.	ENSP00000386759	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0.03)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Ser1530Thr,ENST00000409792,;SETD2,missense_variant,p.Ser1164Thr,ENST00000445387,;SETD2,missense_variant,p.Ser1248Thr,ENST00000431180,;SETD2,splice_region_variant,,ENST00000330022,;	4631	107	153	SUCCESS
CISH	1154	.	GRCh37	3	50649183	50649183	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	20	0	ENST00000348721.3:c.-102G>T		p.*34*	ENST00000348721	NM_145071.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46834.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCGCGCG	NONE	.	.	.	.	.	ENSP00000409346	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	SNV	CISH,5_prime_UTR_variant,,ENST00000348721,;CISH,5_prime_UTR_variant,,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,intron_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	21	20	27	SUCCESS
ARL13B	200894	.	GRCh37	3	93755396	93755396	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	297	32	265	0	ENST00000394222.3:c.487G>A	p.Glu163Lys	p.E163K	ENST00000394222	NM_001174150.1	163	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2925.1	487	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGAACCA	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF102,hmmpanther:PTHR11711,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	.	.	ENSP00000377769	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000394222	Transcript	.	.	ENSG00000169379	25419	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.893)	.	tolerated(0.07)	.	AR13B_HUMAN	ARL13B	HGNC	B4DRI8_HUMAN	.	UPI00001B94DF	SNV	ARL13B,missense_variant,p.Glu60Lys,ENST00000535334,;ARL13B,missense_variant,p.Glu163Lys,ENST00000471138,;ARL13B,missense_variant,p.Glu163Lys,ENST00000394222,;ARL13B,missense_variant,p.Glu56Lys,ENST00000303097,;ARL13B,splice_region_variant,,ENST00000539730,;ARL13B,splice_region_variant,,ENST00000486562,;ARL13B,missense_variant,p.Gly44Glu,ENST00000460371,;ARL13B,splice_region_variant,,ENST00000335438,;	762	265	330	SUCCESS
HHIP	64399	.	GRCh37	4	145627786	145627786	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	9	183	0	ENST00000296575.3:c.935T>C	p.Ile312Thr	p.I312T	ENST00000296575	NM_022475.2	312	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3762.1	935	MUTECT|MUSE	.	GGCTATCGGGC	NONE	.	.	Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27	.	.	ENSP00000296575	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000296575	Transcript	1	.	ENSG00000164161	14866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.01)	.	HHIP_HUMAN	HHIP	HGNC	.	.	UPI0000071302	SNV	HHIP,missense_variant,p.Ile312Thr,ENST00000296575,;HHIP,upstream_gene_variant,,ENST00000512791,;	1590	183	118	SUCCESS
FRG1	2483	.	GRCh37	4	190881979	190881979	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201496065	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	35	147	0	ENST00000226798.4:c.614G>A	p.Cys205Tyr	p.C205Y	ENST00000226798	NM_004477.2	205	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS34121.1	614	RADIA|SOMATICSNIPER|VARSCANS	.	ACAATGTGAAA	NONE	byFrequency	.	hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Pfam_domain:PF06229	.	.	ENSP00000226798	.	7/9	.	.	.	.	.	.	.	.	rs201496065	7/9	PASS	ENST00000226798	Transcript	1	.	ENSG00000109536	3954	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.048)	.	deleterious(0.03)	.	FRG1_HUMAN	FRG1	HGNC	E9PRR7_HUMAN	.	UPI000012AC04	SNV	FRG1,missense_variant,p.Cys205Tyr,ENST00000226798,;FRG1,missense_variant,p.Cys77Tyr,ENST00000524583,;FRG1,downstream_gene_variant,,ENST00000531991,;FRG1,intron_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,missense_variant,p.Cys26Tyr,ENST00000507103,;	836	147	135	SUCCESS
ZFYVE28	57732	.	GRCh37	4	2273119	2273119	+	synonymous_variant	Silent	SNP	G	G	A	rs146945400	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	27	83	0	ENST00000290974.2:c.2451C>T	p.Asp817=	p.D817=	ENST00000290974	NM_020972.2	817	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS33942.1	2451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGTCTGG	NONE	byCluster	.	PROSITE_profiles:PS50178,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF140,Gene3D:3.30.40.10,Pfam_domain:PF01363,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	A:0.0001	ENSP00000290974	.	12/13	.	.	.	.	.	.	.	.	rs146945400,COSM1270919	12/13	PASS	ENST00000290974	Transcript	.	.	ENSG00000159733	29334	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LST2_HUMAN	ZFYVE28	HGNC	Q49AA1_HUMAN,D6RID3_HUMAN	.	UPI00001C1E08	SNV	ZFYVE28,synonymous_variant,p.%3D,ENST00000511071,;ZFYVE28,synonymous_variant,p.%3D,ENST00000508471,;ZFYVE28,synonymous_variant,p.%3D,ENST00000515312,;ZFYVE28,synonymous_variant,p.%3D,ENST00000290974,;ZFYVE28,non_coding_transcript_exon_variant,,ENST00000514248,;	2791	83	107	SUCCESS
CHRNA9	55584	.	GRCh37	4	40351330	40351330	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	126	191	0	ENST00000310169.2:c.797G>T	p.Gly266Val	p.G266V	ENST00000310169	NM_017581.3	266	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3459.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGGAGAAA	NONE	.	.	hmmpanther:PTHR18945:SF214,hmmpanther:PTHR18945,Pfam_domain:PF02932,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	.	.	ENSP00000312663	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000310169	Transcript	.	.	ENSG00000174343	14079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA9_HUMAN	CHRNA9	HGNC	.	.	UPI000013EFB8	SNV	CHRNA9,missense_variant,p.Gly266Val,ENST00000310169,;CHRNA9,upstream_gene_variant,,ENST00000509518,;CHRNA9,downstream_gene_variant,,ENST00000502377,;	936	191	233	SUCCESS
PDGFRA	5156	.	GRCh37	4	55156636	55156636	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	21	114	0	ENST00000257290.5:c.3037A>G	p.Ser1013Gly	p.S1013G	ENST00000257290	NM_006206.4	1013	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS3495.1	3037	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGAGCGCT	NONE	.	.	hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	.	.	ENSP00000257290	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	tolerated(0.17)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	FIP1L1,missense_variant,p.Ser773Gly,ENST00000507166,;PDGFRA,missense_variant,p.Ser1013Gly,ENST00000257290,;	3368	114	169	SUCCESS
SORCS2	57537	.	GRCh37	4	7705958	7705958	+	synonymous_variant	Silent	SNP	G	G	T	rs756784961	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	54	0	ENST00000507866.2:c.1815G>T	p.Ser605=	p.S605=	ENST00000507866	NM_020777.2	605	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47008.1	1815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGGTGTT	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000422185	.	14/27	.	.	.	.	.	.	.	.	rs756784961	14/27	PASS	ENST00000507866	Transcript	.	.	ENSG00000184985	16698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC2_HUMAN	SORCS2	HGNC	.	.	UPI0000EE6E4F	SNV	SORCS2,synonymous_variant,p.%3D,ENST00000329016,;SORCS2,synonymous_variant,p.%3D,ENST00000507866,;	1924	54	72	SUCCESS
TRPC7	57113	.	GRCh37	5	135561777	135561777	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	46	110	0	ENST00000513104.1:c.2207A>T	p.Lys736Met	p.K736M	ENST00000513104	NM_020389.2	736	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS47267.2	2207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTTAGAT	NONE	.	.	Prints_domain:PR01648,TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.401)	.	deleterious(0.02)	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Lys681Met,ENST00000502753,;TRPC7,missense_variant,p.Lys675Met,ENST00000355180,;TRPC7,missense_variant,p.Lys620Met,ENST00000352189,;TRPC7,missense_variant,p.Lys736Met,ENST00000513104,;TRPC7,missense_variant,p.Lys675Met,ENST00000378459,;TRPC7,missense_variant,p.Lys620Met,ENST00000426057,;TRPC7-AS1,downstream_gene_variant,,ENST00000514459,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,non_coding_transcript_exon_variant,,ENST00000509288,;	2490	110	136	SUCCESS
KDM3B	51780	.	GRCh37	5	137766109	137766109	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	10	112	0	ENST00000314358.5:c.5065C>T	p.His1689Tyr	p.H1689Y	ENST00000314358	NM_016604.3	1689	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS34242.1	5065	MUTECT|MUSE|VARSCANS	.	CCCCACACCAG	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000326563	.	22/24	.	.	.	.	.	.	.	.	COSM1173088	22/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.989)	.	deleterious(0.01)	1	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.His721Tyr,ENST00000542866,;KDM3B,missense_variant,p.His1345Tyr,ENST00000394866,;KDM3B,missense_variant,p.His1689Tyr,ENST00000314358,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,downstream_gene_variant,,ENST00000505756,;KDM3B,downstream_gene_variant,,ENST00000509468,;	5265	112	121	SUCCESS
PCDHA3	56145	.	GRCh37	5	140180920	140180920	+	synonymous_variant	Silent	SNP	C	C	A	rs782420366	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	51	0	ENST00000522353.2:c.138C>A	p.Gly46=	p.G46=	ENST00000522353	NM_018906.2	46	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54915.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCCGCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	rs782420366	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,synonymous_variant,p.%3D,ENST00000532566,;PCDHA3,synonymous_variant,p.%3D,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA2,downstream_gene_variant,,ENST00000378132,;	138	51	46	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222940	140222940	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	51	77	0	ENST00000531613.1:c.2034G>A	p.Ala678=	p.A678=	ENST00000531613	NM_018911.2	678	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54919.1	2034	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGTCATC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	COSM1495973,COSM1495972	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,synonymous_variant,p.%3D,ENST00000531613,;PCDHA8,synonymous_variant,p.%3D,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000378122,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	2034	77	86	SUCCESS
PCDHB10	56126	.	GRCh37	5	140573693	140573693	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782526580	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	47	0	ENST00000239446.4:c.1568C>A	p.Ala523Asp	p.A523D	ENST00000239446	NM_018930.3	523	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS4252.1	1568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGCCCTGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	rs782526580	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.599)	.	deleterious_low_confidence(0.01)	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,missense_variant,p.Ala523Asp,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	1752	47	53	SUCCESS
SLC6A3	6531	.	GRCh37	5	1406399	1406399	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	83	0	ENST00000270349.9:c.1503T>A	p.Val501=	p.V501=	ENST00000270349	NM_001044.4	501	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3863.1	1503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAACACC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00176,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,synonymous_variant,p.%3D,ENST00000270349,;SLC6A3,synonymous_variant,p.%3D,ENST00000453492,;SLC6A3,upstream_gene_variant,,ENST00000512002,;	1631	83	80	SUCCESS
NIPAL4	348938	.	GRCh37	5	156890181	156890181	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200083422	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	115	0	ENST00000311946.7:c.303C>A	p.Ser101Arg	p.S101R	ENST00000311946	NM_001099287.1	101	agC/agA	0	A:0.0015	A:0.0015	.	A:0	.	A	S/R	protein_coding	YES	CCDS47328.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCAATGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF7	A:0	A:0	ENSP00000311687	A:0	2/6	.	.	.	.	.	.	.	.	rs200083422	2/6	PASS	ENST00000311946	Transcript	1	A:0.0004	ENSG00000172548	28018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated(0.12)	.	NIPA4_HUMAN	NIPAL4	HGNC	.	.	UPI00001D7EEA	SNV	NIPAL4,missense_variant,p.Ser101Arg,ENST00000311946,;NIPAL4,missense_variant,p.Ser101Arg,ENST00000435489,;ADAM19,intron_variant,,ENST00000430702,;CTB-109A12.1,upstream_gene_variant,,ENST00000519499,;NIPAL4,non_coding_transcript_exon_variant,,ENST00000521390,;NIPAL4,non_coding_transcript_exon_variant,,ENST00000519946,;NIPAL4,missense_variant,p.Ala72Glu,ENST00000519150,;ADAM19,intron_variant,,ENST00000517951,;	419	115	91	SUCCESS
CLINT1	9685	.	GRCh37	5	157286123	157286123	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs572136055	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	20	0	ENST00000411809.2:c.-145G>A		p.*49*	ENST00000411809	NM_014666.3			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS56389.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCAGCGG	NONE	by1000G	.	.	A:0.001	.	ENSP00000429824	A:0	1/12	.	.	.	.	.	.	.	.	rs572136055	1/12	PASS	ENST00000523908	Transcript	.	A:0.0002	ENSG00000113282	23186	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	EPN4_HUMAN	CLINT1	HGNC	.	.	UPI00003E6460	SNV	CLINT1,5_prime_UTR_variant,,ENST00000523094,;CLINT1,5_prime_UTR_variant,,ENST00000296951,;CLINT1,5_prime_UTR_variant,,ENST00000523908,;CLINT1,5_prime_UTR_variant,,ENST00000530742,;CLINT1,5_prime_UTR_variant,,ENST00000411809,;	29	20	18	SUCCESS
DOCK2	1794	.	GRCh37	5	169081429	169081429	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760709796	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	47	0	ENST00000256935.8:c.66C>A	p.Ser22Arg	p.S22R	ENST00000256935	NM_004946.2	22	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS4371.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCGGAGC	NONE	byFrequency	.	PROSITE_profiles:PS50002,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000256935	.	2/52	.	.	.	.	.	.	.	.	rs760709796	2/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.69)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Ser22Arg,ENST00000256935,;DOCK2,non_coding_transcript_exon_variant,,ENST00000522138,;DOCK2,missense_variant,p.Ser22Arg,ENST00000524185,;	146	47	47	SUCCESS
SLC9A3	6550	.	GRCh37	5	475176	475176	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	95	0	ENST00000264938.3:c.2323C>A	p.Leu775Met	p.L775M	ENST00000264938	NM_004174.2	775	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS3855.1	2323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGCCAGG	NONE	.	.	hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110	.	.	ENSP00000264938	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000264938	Transcript	.	.	ENSG00000066230	11073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.777)	.	deleterious(0.01)	.	SL9A3_HUMAN	SLC9A3	HGNC	.	.	UPI000013D597	SNV	SLC9A3,missense_variant,p.Leu766Met,ENST00000514375,;SLC9A3,missense_variant,p.Leu775Met,ENST00000264938,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.5,upstream_gene_variant,,ENST00000342584,;CTD-2228K2.7,intron_variant,,ENST00000607286,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606319,;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,upstream_gene_variant,,ENST00000431004,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510714,;EXOC3,downstream_gene_variant,,ENST00000509294,;CTD-2228K2.5,upstream_gene_variant,,ENST00000502511,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,;EXOC3,downstream_gene_variant,,ENST00000515601,;EXOC3,downstream_gene_variant,,ENST00000503889,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;SLC9A3,downstream_gene_variant,,ENST00000507407,;	2333	95	86	SUCCESS
ARL15	54622	.	GRCh37	5	53450429	53450429	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	182	383	2	ENST00000504924.1:c.234G>A	p.Leu78=	p.L78=	ENST00000504924	NM_019087.2	78	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54850.1	234	RADIA|VARSCANS	.	ACATTCAAGAT	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF114,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	.	.	ENSP00000433427	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000504924	Transcript	.	.	ENSG00000185305	25945	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARL15_HUMAN	ARL15	HGNC	R4GN67_HUMAN	.	UPI000006D66A	SNV	ARL15,synonymous_variant,p.%3D,ENST00000507646,;ARL15,synonymous_variant,p.%3D,ENST00000504924,;ARL15,5_prime_UTR_variant,,ENST00000502271,;ARL15,non_coding_transcript_exon_variant,,ENST00000510591,;ARL15,non_coding_transcript_exon_variant,,ENST00000505383,;ARL15,non_coding_transcript_exon_variant,,ENST00000505630,;	328	385	384	SUCCESS
ERBB2IP	0	.	GRCh37	5	65371047	65371047	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757841017	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	146	274	0	ENST00000284037.5:c.3952G>T	p.Ala1318Ser	p.A1318S	ENST00000284037	NM_001253697.1	1318	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS58952.1	3973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGCAAAA	NONE	byFrequency	.	.	.	.	ENSP00000426632	.	23/26	.	.	.	.	.	.	.	.	rs757841017	23/26	PASS	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.41)	.	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,missense_variant,p.Ala155Ser,ENST00000512354,;ERBB2IP,missense_variant,p.Ala1325Ser,ENST00000506030,;ERBB2IP,missense_variant,p.Ala1273Ser,ENST00000511297,;ERBB2IP,missense_variant,p.Ala1318Ser,ENST00000284037,;ERBB2IP,missense_variant,p.Ala1277Ser,ENST00000380943,;ERBB2IP,missense_variant,p.Ala1277Ser,ENST00000380938,;ERBB2IP,missense_variant,p.Ala1277Ser,ENST00000380936,;ERBB2IP,missense_variant,p.Ala1266Ser,ENST00000380939,;ERBB2IP,missense_variant,p.Ala516Ser,ENST00000416865,;ERBB2IP,intron_variant,,ENST00000380935,;ERBB2IP,intron_variant,,ENST00000508515,;ERBB2IP,downstream_gene_variant,,ENST00000511671,;ERBB2IP,intron_variant,,ENST00000503913,;ERBB2IP,non_coding_transcript_exon_variant,,ENST00000505822,;ERBB2IP,upstream_gene_variant,,ENST00000509946,;ERBB2IP,upstream_gene_variant,,ENST00000506744,;	4064	274	299	SUCCESS
VCAN	1462	.	GRCh37	5	82816787	82816787	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	84	0	ENST00000265077.3:c.2662T>A	p.Ser888Thr	p.S888T	ENST00000265077	NM_004385.4	888	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS4060.1	2662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACATCAACT	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.584)	.	tolerated(0.09)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.Ser888Thr,ENST00000342785,;VCAN,missense_variant,p.Ser888Thr,ENST00000265077,;VCAN,missense_variant,p.Ser840Thr,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000343200,;VCAN,intron_variant,,ENST00000515397,;	3227	84	104	SUCCESS
LACE1	0	.	GRCh37	6	108645051	108645051	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	68	65	0	ENST00000368977.4:c.162G>T	p.Glu54Asp	p.E54D	ENST00000368977	NM_145315.3	54	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS5067.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGAGCAT	NONE	.	.	hmmpanther:PTHR12169,hmmpanther:PTHR12169:SF0	.	.	ENSP00000357973	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000368977	Transcript	.	.	ENSG00000135537	16411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.2)	.	LACE1_HUMAN	LACE1	HGNC	.	.	UPI0000072226	SNV	LACE1,missense_variant,p.Glu21Asp,ENST00000437715,;LACE1,missense_variant,p.Glu54Asp,ENST00000368977,;LACE1,intron_variant,,ENST00000421954,;LACE1,non_coding_transcript_exon_variant,,ENST00000430458,;	348	65	79	SUCCESS
MYLIP	29116	.	GRCh37	6	16145305	16145305	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	90	131	0	ENST00000356840.3:c.1005T>A	p.Val335=	p.V335=	ENST00000356840	NM_013262.3	335	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4536.1	1005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTTGTGGA	NONE	.	.	hmmpanther:PTHR23280	.	.	ENSP00000349298	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000356840	Transcript	.	.	ENSG00000007944	21155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYLIP_HUMAN	MYLIP	HGNC	Q5TIA5_HUMAN	.	UPI000006CDE0	SNV	MYLIP,synonymous_variant,p.%3D,ENST00000349606,;MYLIP,synonymous_variant,p.%3D,ENST00000356840,;U3,downstream_gene_variant,,ENST00000515984,;MIR4639,downstream_gene_variant,,ENST00000584938,;	1203	131	197	SUCCESS
CCR6	1235	.	GRCh37	6	167549831	167549831	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	44	83	0	ENST00000341935.5:c.113T>C	p.Leu38Ser	p.L38S	ENST00000341935	NM_031409.3	38	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS5298.1	113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGCAGG	NONE	.	.	hmmpanther:PTHR24227:SF24,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657	.	.	ENSP00000343952	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341935	Transcript	.	.	ENSG00000112486	1607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.25)	.	CCR6_HUMAN	CCR6	HGNC	.	.	UPI00000008CE	SNV	CCR6,missense_variant,p.Leu38Ser,ENST00000341935,;CCR6,missense_variant,p.Leu38Ser,ENST00000400926,;CCR6,missense_variant,p.Leu38Ser,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	665	83	60	SUCCESS
AGER	177	.	GRCh37	6	32151317	32151317	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	57	0	ENST00000375076.4:c.355+15G>A		p.*119*	ENST00000375076	NM_001206929.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4745.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACCCTGG	NONE	.	2747	.	.	.	ENSP00000364235	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375094	Transcript	.	.	ENSG00000204308	10068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF5_HUMAN	RNF5	HGNC	.	.	UPI000006D329	SNV	RNF5,3_prime_UTR_variant,,ENST00000427134,;AGER,intron_variant,,ENST00000375056,;AGER,intron_variant,,ENST00000450110,;AGER,intron_variant,,ENST00000375055,;AGER,intron_variant,,ENST00000375070,;AGER,intron_variant,,ENST00000438221,;AGER,intron_variant,,ENST00000375065,;AGER,intron_variant,,ENST00000375076,;AGER,intron_variant,,ENST00000375067,;AGER,intron_variant,,ENST00000375069,;AGER,intron_variant,,ENST00000538695,;PBX2,downstream_gene_variant,,ENST00000375050,;RNF5,downstream_gene_variant,,ENST00000375094,;XXbac-BPG300A18.13,downstream_gene_variant,,ENST00000559458,;RNF5,downstream_gene_variant,,ENST00000487940,;AGER,intron_variant,,ENST00000484849,;PBX2,downstream_gene_variant,,ENST00000496171,;PBX2,downstream_gene_variant,,ENST00000480254,;AGER,upstream_gene_variant,,ENST00000473619,;AGER,upstream_gene_variant,,ENST00000488669,;PBX2,downstream_gene_variant,,ENST00000495300,;PBX2,downstream_gene_variant,,ENST00000478678,;AGER,upstream_gene_variant,,ENST00000469940,;	.	57	57	SUCCESS
DAAM2	23500	.	GRCh37	6	39864686	39864686	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs146966805	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	39	57	0	ENST00000274867.4:c.2440C>A	p.Arg814Ser	p.R814S	ENST00000274867	NM_001201427.1	814	Cgt/Agt	0	T:0	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS56426.1	2440	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCGTGGG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF101447,SMART_domains:SM00498,Pfam_domain:PF02181,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,PROSITE_profiles:PS51444	T:0	T:0.0001	ENSP00000381876	T:0.003	20/25	.	.	.	.	.	.	.	.	rs146966805,COSM1444408	20/25	PASS	ENST00000398904	Transcript	.	T:0.0006	ENSG00000146122	18143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.999)	T:0	deleterious(0)	0,1	DAAM2_HUMAN	DAAM2	HGNC	.	.	UPI000020DC88	SNV	DAAM2,missense_variant,p.Arg814Ser,ENST00000274867,;DAAM2,missense_variant,p.Arg814Ser,ENST00000398904,;DAAM2,missense_variant,p.Arg814Ser,ENST00000538976,;RP11-61I13.3,intron_variant,,ENST00000430595,;RP11-61I13.3,intron_variant,,ENST00000420293,;RP11-61I13.3,intron_variant,,ENST00000606829,;RP11-61I13.3,downstream_gene_variant,,ENST00000437947,;MOCS1,downstream_gene_variant,,ENST00000373181,;	2622	57	82	SUCCESS
SLC29A1	2030	.	GRCh37	6	44198616	44198616	+	synonymous_variant	Silent	SNP	C	C	T	rs755679281	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	48	68	0	ENST00000371708.1:c.756C>T	p.Leu252=	p.L252=	ENST00000371708		252	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4908.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTCATTAG	NONE	.	.	hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF9,Pfam_domain:PF01733,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379	.	.	ENSP00000377424	.	9/14	.	.	.	.	.	.	.	.	rs755679281	9/14	PASS	ENST00000393841	Transcript	.	.	ENSG00000112759	11003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S29A1_HUMAN	SLC29A1	HGNC	C8KHU2_HUMAN,C8KHU1_HUMAN	.	UPI0000001BCC	SNV	SLC29A1,synonymous_variant,p.%3D,ENST00000371740,;SLC29A1,synonymous_variant,p.%3D,ENST00000371731,;SLC29A1,synonymous_variant,p.%3D,ENST00000313248,;SLC29A1,synonymous_variant,p.%3D,ENST00000371713,;SLC29A1,synonymous_variant,p.%3D,ENST00000371755,;SLC29A1,synonymous_variant,p.%3D,ENST00000393844,;SLC29A1,synonymous_variant,p.%3D,ENST00000371724,;SLC29A1,synonymous_variant,p.%3D,ENST00000393841,;SLC29A1,synonymous_variant,p.%3D,ENST00000427851,;SLC29A1,synonymous_variant,p.%3D,ENST00000371708,;SLC29A1,non_coding_transcript_exon_variant,,ENST00000472176,;	1247	68	86	SUCCESS
F13A1	2162	.	GRCh37	6	6248626	6248626	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	33	0	ENST00000264870.3:c.717C>A	p.Cys239Ter	p.C239*	ENST00000264870	NM_000129.3	239	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS4496.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGGCAAGT	NONE	.	.	hmmpanther:PTHR11590:SF42,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	.	ENSP00000264870	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000264870	Transcript	.	.	ENSG00000124491	3531	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F13A_HUMAN	F13A1	HGNC	Q9NQP5_HUMAN	.	UPI000013D585	SNV	F13A1,stop_gained,p.Cys239Ter,ENST00000264870,;F13A1,downstream_gene_variant,,ENST00000479211,;	983	33	59	SUCCESS
ORC3	23595	.	GRCh37	6	88374575	88374575	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	83	90	0	ENST00000392844.3:c.1948G>C	p.Glu650Gln	p.E650Q	ENST00000392844	NM_181837.2	650	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS5012.1	1951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGAGGTA	NONE	.	.	hmmpanther:PTHR12748,hmmpanther:PTHR12748:SF0	.	.	ENSP00000257789	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000257789	Transcript	.	.	ENSG00000135336	8489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.52)	.	ORC3_HUMAN	ORC3	HGNC	U3KQL3_HUMAN	.	UPI00001B216A	SNV	ORC3,missense_variant,p.Glu507Gln,ENST00000546266,;ORC3,missense_variant,p.Glu650Gln,ENST00000392844,;ORC3,missense_variant,p.Glu651Gln,ENST00000257789,;ORC3,downstream_gene_variant,,ENST00000417380,;	1985	90	107	SUCCESS
ZAN	7455	.	GRCh37	7	100361473	100361473	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs760035237	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	45	0	ENST00000546292.1:c.4031C>G	p.Ser1344Cys	p.S1344C	ENST00000546292	NM_173059.1	1344	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	.	4031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCTCTGC	NONE	.	.	hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000445943	.	20/46	.	.	.	.	.	.	.	.	rs760035237	20/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Ser1344Cys,ENST00000546292,;ZAN,missense_variant,p.Ser1344Cys,ENST00000542585,;ZAN,missense_variant,p.Ser1344Cys,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Ser1344Cys,ENST00000421100,;ZAN,missense_variant,p.Ser1344Cys,ENST00000349350,;ZAN,missense_variant,p.Ser1344Cys,ENST00000427578,;ZAN,missense_variant,p.Ser1344Cys,ENST00000348028,;ZAN,missense_variant,p.Ser1344Cys,ENST00000449052,;ZAN,missense_variant,p.Ser1344Cys,ENST00000443370,;	4179	45	53	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121652602	121652602	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	96	0	ENST00000393386.2:c.3502T>A	p.Leu1168Ile	p.L1168I	ENST00000393386	NM_001206838.1	1168	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS34740.1	3502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCTTATTT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious_low_confidence(0.04)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Leu1168Ile,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,intron_variant,,ENST00000483028,;	3913	96	43	SUCCESS
PRSS58	136541	.	GRCh37	7	141955440	141955440	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	53	149	0	ENST00000547058.2:c.94G>T	p.Val32Phe	p.V32F	ENST00000547058	NM_001001317.3	32	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS5871.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGACCAAGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF46,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000446916	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000552471	Transcript	.	.	ENSG00000258223	39125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	PRS58_HUMAN	PRSS58	HGNC	.	.	UPI000004C649	SNV	PRSS58,missense_variant,p.Val32Phe,ENST00000547058,;PRSS58,missense_variant,p.Val32Phe,ENST00000552471,;	414	149	124	SUCCESS
ARHGEF5	7984	.	GRCh37	7	144059794	144059794	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1319134785	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	55	493	0	ENST00000056217.5:c.32C>G	p.Ser11Cys	p.S11C	ENST00000056217	NM_005435.3	11	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS34771.1	32	RADIA|VARSCANS	.	AGCCTCTCCTC	NONE	.	.	Pfam_domain:PF15441	.	.	ENSP00000056217	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000056217	Transcript	.	.	ENSG00000050327	13209	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	deleterious(0.05)	.	ARHG5_HUMAN	ARHGEF5	HGNC	H9XFB6_HUMAN	.	UPI00004028DC	SNV	ARHGEF5,missense_variant,p.Ser11Cys,ENST00000056217,;ARHGEF5,missense_variant,p.Ser11Cys,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;ARHGEF5,upstream_gene_variant,,ENST00000474817,;	206	494	404	SUCCESS
SSPO	0	.	GRCh37	7	149523554	149523554	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs758697015	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	19	0	ENST00000378016.2:n.14468A>G		p.*4823*	ENST00000378016				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGGTGC	NONE	.	.	.	.	.	.	.	101/109	.	.	.	.	.	.	.	.	rs758697015	101/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000493567,;SSPO,intron_variant,,ENST00000488835,;SSPO,intron_variant,,ENST00000461331,;SSPO,downstream_gene_variant,,ENST00000464974,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;	14468	19	17	SUCCESS
NCAPG2	54892	.	GRCh37	7	158437057	158437057	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	67	0	ENST00000356309.3:c.3304A>G	p.Arg1102Gly	p.R1102G	ENST00000356309	NM_017760.5	1102	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS43686.1	3304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTCACTT	NONE	.	.	hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4	.	.	ENSP00000386569	.	28/29	.	.	.	.	.	.	.	.	COSM251050	28/29	PASS	ENST00000409423	Transcript	.	.	ENSG00000146918	21904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.013)	.	tolerated(0.06)	1	CNDG2_HUMAN	NCAPG2	HGNC	.	.	UPI000000DA46	SNV	NCAPG2,missense_variant,p.Arg847Gly,ENST00000275830,;NCAPG2,missense_variant,p.Arg1102Gly,ENST00000409423,;NCAPG2,missense_variant,p.Arg857Gly,ENST00000441982,;NCAPG2,missense_variant,p.Arg1102Gly,ENST00000449727,;NCAPG2,missense_variant,p.Arg1102Gly,ENST00000356309,;NCAPG2,missense_variant,p.Arg1102Gly,ENST00000409339,;NCAPG2,missense_variant,p.Arg556Gly,ENST00000541468,;NCAPG2,3_prime_UTR_variant,,ENST00000432615,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000467785,;	3477	67	53	SUCCESS
HECW1	23072	.	GRCh37	7	43484630	43484630	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	31	0	ENST00000395891.2:c.1859C>A	p.Pro620His	p.P620H	ENST00000395891	NM_015052.3	620	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS5469.2	1859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCCGAGG	NONE	.	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.06)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Pro620His,ENST00000453890,;HECW1,missense_variant,p.Pro620His,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2464	31	27	SUCCESS
ASL	435	.	GRCh37	7	65540876	65540876	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	29	0	ENST00000304874.9:c.-44+33G>C		p.*15*	ENST00000304874	NM_000048.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5531.1	.	MUTECT|MUSE	.	GACGGGCGTGG	NONE	.	.	.	.	.	ENSP00000307188	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304874	Transcript	.	.	ENSG00000126522	746	.	.	MODIFIER	1/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARLY_HUMAN	ASL	HGNC	.	.	UPI0000001634	SNV	ASL,5_prime_UTR_variant,,ENST00000380839,;ASL,5_prime_UTR_variant,,ENST00000395331,;ASL,5_prime_UTR_variant,,ENST00000362000,;ASL,5_prime_UTR_variant,,ENST00000395332,;ASL,intron_variant,,ENST00000304874,;ASL,non_coding_transcript_exon_variant,,ENST00000496336,;ASL,intron_variant,,ENST00000487982,;RP5-1132H15.2,upstream_gene_variant,,ENST00000418542,;	.	29	35	SUCCESS
PCLO	27445	.	GRCh37	7	82546021	82546021	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	111	0	ENST00000333891.9:c.11281A>C	p.Lys3761Gln	p.K3761Q	ENST00000333891	NM_033026.5	3761	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS47630.1	11281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTGGCTC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Lys481Gln,ENST00000437081,;PCLO,missense_variant,p.Lys3761Gln,ENST00000333891,;PCLO,missense_variant,p.Lys3761Gln,ENST00000423517,;	11619	112	90	SUCCESS
PCLO	27445	.	GRCh37	7	82583500	82583500	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	53	0	ENST00000333891.9:c.6769G>T	p.Ala2257Ser	p.A2257S	ENST00000333891	NM_033026.5	2257	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47630.1	6769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAGCTCTAC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ala2257Ser,ENST00000333891,;PCLO,missense_variant,p.Ala2257Ser,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7107	53	46	SUCCESS
PCLO	27445	.	GRCh37	7	82764880	82764880	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	89	0	ENST00000333891.9:c.1986G>T	p.Lys662Asn	p.K662N	ENST00000333891	NM_033026.5	662	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS47630.1	1986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTCTTCAG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Lys662Asn,ENST00000333891,;PCLO,missense_variant,p.Lys662Asn,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2324	89	56	SUCCESS
ASNS	440	.	GRCh37	7	97486092	97486092	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	79	283	0	ENST00000175506.4:c.940C>G	p.Leu314Val	p.L314V	ENST00000175506	NM_183356.3	314	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS5652.1	940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGACTT	NONE	.	.	hmmpanther:PTHR11772:SF5,hmmpanther:PTHR11772,TIGRFAM_domain:TIGR01536,Gene3D:3.40.50.620,Pfam_domain:PF00733,PIRSF_domain:PIRSF001589,Superfamily_domains:SSF52402	.	.	ENSP00000175506	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000175506	Transcript	.	.	ENSG00000070669	753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.4)	.	ASNS_HUMAN	ASNS	HGNC	C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN	.	UPI0000169F55	SNV	ASNS,missense_variant,p.Leu314Val,ENST00000394309,;ASNS,missense_variant,p.Leu231Val,ENST00000437628,;ASNS,missense_variant,p.Leu314Val,ENST00000175506,;ASNS,missense_variant,p.Leu231Val,ENST00000455086,;ASNS,missense_variant,p.Leu293Val,ENST00000444334,;ASNS,missense_variant,p.Leu314Val,ENST00000394308,;ASNS,missense_variant,p.Leu293Val,ENST00000422745,;ASNS,downstream_gene_variant,,ENST00000442734,;ASNS,missense_variant,p.Leu314Val,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000462436,;ASNS,upstream_gene_variant,,ENST00000487714,;	1469	284	279	SUCCESS
GATS	0	.	GRCh37	7	99820268	99820268	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	417	177	719	0	ENST00000543273.1:n.616T>C		p.*206*	ENST00000543273				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCAGCGTG	NONE	.	.	.	.	.	ENSP00000389760	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436886	Transcript	.	.	ENSG00000160844	29954	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATS_HUMAN	GATS	HGNC	.	.	UPI0000071079	SNV	GATS,intron_variant,,ENST00000436886,;PVRIG,downstream_gene_variant,,ENST00000317271,;AC005071.1,upstream_gene_variant,,ENST00000410550,;GATS,non_coding_transcript_exon_variant,,ENST00000454084,;GATS,non_coding_transcript_exon_variant,,ENST00000538588,;GATS,non_coding_transcript_exon_variant,,ENST00000435519,;GATS,non_coding_transcript_exon_variant,,ENST00000543273,;GATS,non_coding_transcript_exon_variant,,ENST00000328453,;GATS,non_coding_transcript_exon_variant,,ENST00000414739,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000440058,;PVRIG,downstream_gene_variant,,ENST00000471803,;STAG3,downstream_gene_variant,,ENST00000451963,;GATS,non_coding_transcript_exon_variant,,ENST00000292369,;	.	719	595	SUCCESS
TRMT12	55039	.	GRCh37	8	125463085	125463085	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	27	0	ENST00000328599.3:c.-84T>A		p.*28*	ENST00000328599	NM_017956.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6349.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGTGAGCT	NONE	.	.	.	.	.	ENSP00000329858	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328599	Transcript	.	.	ENSG00000183665	26091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYW2_HUMAN	TRMT12	HGNC	.	.	UPI0000140A61	SNV	TRMT12,5_prime_UTR_variant,,ENST00000328599,;TRMT12,non_coding_transcript_exon_variant,,ENST00000521443,;TRMT12,upstream_gene_variant,,ENST00000522518,;	38	27	36	SUCCESS
TG	7038	.	GRCh37	8	133899348	133899348	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369032480	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	57	140	0	ENST00000220616.4:c.1731C>A	p.Phe577Leu	p.F577L	ENST00000220616	NM_003235.4	577	ttC/ttA	0	T:0.0002	.	.	.	.	A	F/L	protein_coding	YES	CCDS34944.1	1731	RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCCTTCT	NONE	byCluster	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001831	.	T:0	ENSP00000220616	.	9/48	.	.	.	.	.	.	.	.	rs369032480	9/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Phe577Leu,ENST00000220616,;TG,missense_variant,p.Phe577Leu,ENST00000377869,;TG,downstream_gene_variant,,ENST00000520769,;	1771	140	226	SUCCESS
BAI1	0	.	GRCh37	8	143623348	143623348	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	35	0	ENST00000323289.5:c.3753C>T	p.Gly1251=	p.G1251=	ENST00000323289	NM_001702.2	1251	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS64985.1	3753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGCACACT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39	.	.	ENSP00000430945	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,synonymous_variant,p.%3D,ENST00000323289,;BAI1,synonymous_variant,p.%3D,ENST00000517894,;BAI1,3_prime_UTR_variant,,ENST00000521208,;BAI1,upstream_gene_variant,,ENST00000518812,;BAI1,downstream_gene_variant,,ENST00000518820,;	4647	35	47	SUCCESS
RHPN1	114822	.	GRCh37	8	144462150	144462150	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	38	0	ENST00000289013.6:c.1097G>A	p.Gly366Asp	p.G366D	ENST00000289013	NM_052924.2	366	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47927.1	1097	RADIA|MUTECT|MUSE|VARSCANS	.	CGACGGCTCCC	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23031:SF6,hmmpanther:PTHR23031,Pfam_domain:PF03097,SMART_domains:SM01041	.	.	ENSP00000289013	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000289013	Transcript	.	.	ENSG00000158106	19973	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.65)	.	tolerated(0.22)	.	RHPN1_HUMAN	RHPN1	HGNC	.	.	UPI0000071870	SNV	RHPN1,missense_variant,p.Gly366Asp,ENST00000289013,;RHPN1,non_coding_transcript_exon_variant,,ENST00000522335,;RHPN1,non_coding_transcript_exon_variant,,ENST00000522899,;	1198	38	32	SUCCESS
CSMD1	64478	.	GRCh37	8	3141773	3141773	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	19	126	0	ENST00000537824.1:c.4046G>A	p.Ser1349Asn	p.S1349N	ENST00000537824	NM_033225.5	1349	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS55189.1	4046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACTCCAC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	26/70	.	.	.	.	.	.	.	.	.	26/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.476)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ser1350Asn,ENST00000400186,;CSMD1,missense_variant,p.Ser1349Asn,ENST00000542608,;CSMD1,missense_variant,p.Ser1350Asn,ENST00000602723,;CSMD1,missense_variant,p.Ser830Asn,ENST00000335551,;CSMD1,missense_variant,p.Ser1349Asn,ENST00000537824,;CSMD1,missense_variant,p.Ser1350Asn,ENST00000520002,;CSMD1,missense_variant,p.Ser1349Asn,ENST00000539096,;CSMD1,missense_variant,p.Ser1350Asn,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000521646,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4046	126	31	SUCCESS
MCPH1	79648	.	GRCh37	8	6302684	6302684	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768776312	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	104	0	ENST00000344683.5:c.1441A>G	p.Ile481Val	p.I481V	ENST00000344683	NM_024596.3	481	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43689.1	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCATCTCC	NONE	.	.	hmmpanther:PTHR14625:SF3,hmmpanther:PTHR14625,Pfam_domain:PF12258	.	.	ENSP00000342924	.	8/14	.	.	.	.	.	.	.	.	rs768776312	8/14	PASS	ENST00000344683	Transcript	1	.	ENSG00000147316	6954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.53)	.	.	MCPH1	HGNC	Q6W7E5_HUMAN,Q6RBX4_HUMAN,Q6RBQ8_HUMAN,Q6RBJ2_HUMAN,Q6RBC6_HUMAN,Q6RB60_HUMAN,Q6RAZ4_HUMAN,Q6RAP8_HUMAN,Q6RAB6_HUMAN,Q6RA50_HUMAN	.	UPI000020FF7E	SNV	MCPH1,missense_variant,p.Ile481Val,ENST00000519480,;MCPH1,missense_variant,p.Ile433Val,ENST00000522905,;MCPH1,missense_variant,p.Ile481Val,ENST00000344683,;	1517	104	43	SUCCESS
CPA6	57094	.	GRCh37	8	68334896	68334896	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	18	104	0	ENST00000297770.4:c.1157C>A	p.Ala386Asp	p.A386D	ENST00000297770	NM_020361.4	386	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS6200.1	1157	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGCCCAA	NONE	.	.	hmmpanther:PTHR11705:SF18,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000297770	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,missense_variant,p.Ala142Asp,ENST00000297769,;CPA6,missense_variant,p.Ala386Asp,ENST00000297770,;CPA6,3_prime_UTR_variant,,ENST00000479862,;	1373	104	138	SUCCESS
NCOA2	10499	.	GRCh37	8	71087033	71087033	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369349334	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	58	0	ENST00000452400.2:c.321G>T	p.Gln107His	p.Q107H	ENST00000452400	NM_006540.2	107	caG/caT	0	G:0	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47872.1	321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCCTGCCC	NONE	.	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	G:0.0001	ENSP00000399968	.	5/23	.	.	.	.	.	.	.	.	rs369349334	5/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	deleterious(0.03)	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,missense_variant,p.Gln107His,ENST00000452400,;NCOA2,missense_variant,p.Gln107His,ENST00000518287,;	503	58	92	SUCCESS
CALB1	793	.	GRCh37	8	91094853	91094853	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs750409917	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	49	74	0	ENST00000265431.3:c.73del	p.Ala25LeufsTer15	p.A25Lfs*15	ENST00000265431	NM_004929.2	25	Gct/ct	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS6251.1	73	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTCAGCGTCGA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR19972,hmmpanther:PTHR19972:SF3,PROSITE_patterns:PS00018,Pfam_domain:PF13405,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000265431	.	1/11	.	.	.	.	.	.	.	.	rs750409917	1/11	PASS	ENST00000265431	Transcript	.	.	ENSG00000104327	1434	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CALB1_HUMAN	CALB1	HGNC	O75552_HUMAN,E5RIZ8_HUMAN,E5RG14_HUMAN,B7Z9J4_HUMAN	.	UPI000013D620	deletion	CALB1,frameshift_variant,p.Ala25LeufsTer15,ENST00000265431,;CALB1,intron_variant,,ENST00000514406,;CALB1,intron_variant,,ENST00000520613,;CALB1,intron_variant,,ENST00000523716,;CALB1,upstream_gene_variant,,ENST00000518457,;CALB1,non_coding_transcript_exon_variant,,ENST00000482702,;CALB1,upstream_gene_variant,,ENST00000473670,;CALB1,upstream_gene_variant,,ENST00000476853,;	255	74	189	SUCCESS
MAMDC2	256691	.	GRCh37	9	72723140	72723140	+	synonymous_variant	Silent	SNP	T	T	C	rs1230973796	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	41	0	ENST00000377182.4:c.162T>C	p.Tyr54=	p.Y54=	ENST00000377182	NM_153267.4	54	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS6631.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATGTGGA	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000366387	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000377182	Transcript	.	.	ENSG00000165072	23673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAMC2_HUMAN	MAMDC2	HGNC	.	.	UPI000013E44F	SNV	MAMDC2,synonymous_variant,p.%3D,ENST00000377182,;MAMDC2-AS1,intron_variant,,ENST00000591368,;MAMDC2-AS1,intron_variant,,ENST00000414515,;	779	41	54	SUCCESS
TRPM3	80036	.	GRCh37	9	73151774	73151774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	137	0	ENST00000377110.3:c.4219A>G	p.Met1407Val	p.M1407V	ENST00000377110		1407	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS43835.1	4219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATAGCAG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	.	.	ENSP00000366314	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000377110	Transcript	.	.	ENSG00000083067	17992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated_low_confidence(0.31)	.	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,missense_variant,p.Met1279Val,ENST00000377106,;TRPM3,missense_variant,p.Met1269Val,ENST00000360823,;TRPM3,missense_variant,p.Met1269Val,ENST00000358082,;TRPM3,missense_variant,p.Met1279Val,ENST00000396292,;TRPM3,missense_variant,p.Met1256Val,ENST00000396280,;TRPM3,missense_variant,p.Met1434Val,ENST00000423814,;TRPM3,missense_variant,p.Met1266Val,ENST00000408909,;TRPM3,missense_variant,p.Met1411Val,ENST00000357533,;TRPM3,missense_variant,p.Met1407Val,ENST00000377110,;TRPM3,missense_variant,p.Met1266Val,ENST00000377105,;TRPM3,missense_variant,p.Met1266Val,ENST00000396285,;TRPM3,intron_variant,,ENST00000377111,;	4463	137	119	SUCCESS
NXF4	55999	.	GRCh37	X	101818277	101818277	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs775204363	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	61	82	0	ENST00000360035.2:n.867C>A		p.*289*	ENST00000360035				0	.	T:0	.	T:0	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGACGGCAA	NONE	byFrequency|by1000G	.	.	T:0	.	.	T:0	7/17	.	.	.	.	.	.	.	.	rs775204363	7/17	PASS	ENST00000360035	Transcript	.	T:0.0013	ENSG00000196970	8074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0051	.	.	.	NXF4	HGNC	.	.	.	SNV	NXF4,non_coding_transcript_exon_variant,,ENST00000360035,;NXF4,intron_variant,,ENST00000416098,;	867	82	77	SUCCESS
ESX1	80712	.	GRCh37	X	103499051	103499051	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	28	0	ENST00000372588.4:c.290A>G	p.Gln97Arg	p.Q97R	ENST00000372588	NM_153448.3	97	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS14516.1	290	RADIA|VARSCANS	.	CCTGCTGTTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF286,hmmpanther:PTHR24329	.	.	ENSP00000361669	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000372588	Transcript	.	.	ENSG00000123576	14865	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.043)	.	tolerated_low_confidence(0.5)	.	ESX1_HUMAN	ESX1	HGNC	A6ZIU4_HUMAN,A6ZIT2_HUMAN	.	UPI0000073D09	SNV	ESX1,missense_variant,p.Gln97Arg,ENST00000372588,;	374	28	32	SUCCESS
XPNPEP2	7512	.	GRCh37	X	128893170	128893170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	43	56	1	ENST00000371106.3:c.1382A>T	p.Asp461Val	p.D461V	ENST00000371106	NM_003399.5	461	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS14613.1	1382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGACATCA	NONE	.	.	hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF84,Gene3D:3.90.230.10,Pfam_domain:PF00557,Superfamily_domains:SSF55920	.	.	ENSP00000360147	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000371106	Transcript	.	.	ENSG00000122121	12823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	XPP2_HUMAN	XPNPEP2	HGNC	.	.	UPI000013901A	SNV	XPNPEP2,missense_variant,p.Asp461Val,ENST00000371106,;	1574	57	49	SUCCESS
UBA1	7317	.	GRCh37	X	47065468	47065468	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	66	112	0	ENST00000335972.6:c.1697A>G	p.Gln566Arg	p.Q566R	ENST00000335972	NM_003334.3	566	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS14275.1	1697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAAAACC	NONE	.	.	hmmpanther:PTHR10953:SF136,hmmpanther:PTHR10953,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572,Prints_domain:PR01849	.	.	ENSP00000338413	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000335972	Transcript	.	.	ENSG00000130985	12469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated(0.07)	.	UBA1_HUMAN	UBA1	HGNC	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN	.	UPI0000137946	SNV	UBA1,missense_variant,p.Gln566Arg,ENST00000335972,;UBA1,missense_variant,p.Gln566Arg,ENST00000377351,;UBA1,upstream_gene_variant,,ENST00000377269,;UBA1,downstream_gene_variant,,ENST00000442035,;UBA1,downstream_gene_variant,,ENST00000412206,;INE1,downstream_gene_variant,,ENST00000456273,;UBA1,intron_variant,,ENST00000490869,;	1880	112	93	SUCCESS
TLX1NB	100038246	.	GRCh37	10	102849344	102849344	+	synonymous_variant	Silent	SNP	G	G	T	rs757506084	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	51	69	0	ENST00000445873.1:c.319C>A	p.Arg107=	p.R107=	ENST00000445873	NM_001085398.1	107	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS60615.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCGTAGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000475001	.	3/3	.	.	.	.	.	.	.	.	rs757506084	3/3	PASS	ENST00000445873	Transcript	.	.	ENSG00000236311	37183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLXNB_HUMAN	TLX1NB	HGNC	.	.	UPI0000141B8A	SNV	TLX1NB,synonymous_variant,p.%3D,ENST00000445873,;TLX1NB,downstream_gene_variant,,ENST00000425505,;	1596	69	88	SUCCESS
SUFU	51684	.	GRCh37	10	104268957	104268957	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	78	134	0	ENST00000369902.3:c.214A>T	p.Ser72Cys	p.S72C	ENST00000369902	NM_016169.3	72	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS7537.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTAGCATG	NONE	.	.	hmmpanther:PTHR10928:SF2,hmmpanther:PTHR10928,Pfam_domain:PF05076,PIRSF_domain:PIRSF011844,Superfamily_domains:0040736	.	.	ENSP00000358918	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000369902	Transcript	1	.	ENSG00000107882	16466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SUFU_HUMAN	SUFU	HGNC	.	.	UPI0000073C79	SNV	SUFU,missense_variant,p.Ser72Cys,ENST00000369899,;SUFU,missense_variant,p.Ser72Cys,ENST00000369902,;SUFU,missense_variant,p.Ser72Cys,ENST00000423559,;	380	134	117	SUCCESS
NEURL1	9148	.	GRCh37	10	105350031	105350031	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	74	108	2	ENST00000369780.4:c.1627T>A	p.Tyr543Asn	p.Y543N	ENST00000369780	NM_004210.4	543	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS7551.1	1627	RADIA|SOMATICSNIPER|VARSCANS	.	TCTGCTACGCC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF4,Gene3D:3.30.40.10,Pfam_domain:PF13920,Superfamily_domains:SSF57850	.	.	ENSP00000358795	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369780	Transcript	.	.	ENSG00000107954	7761	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	tolerated(0.67)	.	NEU1A_HUMAN	NEURL1	HGNC	B4DS86_HUMAN	.	UPI0000073F46	SNV	NEURL1,missense_variant,p.Tyr526Asn,ENST00000369777,;NEURL1,missense_variant,p.Tyr543Asn,ENST00000369780,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,downstream_gene_variant,,ENST00000369774,;SH3PXD2A,downstream_gene_variant,,ENST00000355946,;	2036	110	122	SUCCESS
CELF2	10659	.	GRCh37	10	11207586	11207586	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	62	81	0	ENST00000416382.2:c.191G>A	p.Gly64Glu	p.G64E	ENST00000416382		64	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS44355.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACGGAGCCG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF164,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000389951	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000450189	Transcript	.	.	ENSG00000048740	2550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	CELF2	HGNC	E9PC62_HUMAN,B4DIB6_HUMAN	.	UPI0000F58F21	SNV	CELF2,missense_variant,p.Gly40Glu,ENST00000427450,;CELF2,missense_variant,p.Gly40Glu,ENST00000608830,;CELF2,missense_variant,p.Gly40Glu,ENST00000399850,;CELF2,missense_variant,p.Gly64Glu,ENST00000379261,;CELF2,missense_variant,p.Gly40Glu,ENST00000354897,;CELF2,missense_variant,p.Gly64Glu,ENST00000416382,;CELF2,missense_variant,p.Gly40Glu,ENST00000609692,;CELF2,missense_variant,p.Gly40Glu,ENST00000417956,;CELF2,missense_variant,p.Gly40Glu,ENST00000354440,;CELF2,missense_variant,p.Gly71Glu,ENST00000542579,;CELF2,missense_variant,p.Gly71Glu,ENST00000450189,;CELF2,missense_variant,p.Gly40Glu,ENST00000315874,;CELF2,5_prime_UTR_variant,,ENST00000537122,;RP3-323N1.2,downstream_gene_variant,,ENST00000417273,;CELF2,missense_variant,p.Gly40Glu,ENST00000609870,;	372	81	104	SUCCESS
SHOC2	8036	.	GRCh37	10	112724768	112724768	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	35	94	0	ENST00000369452.4:c.652del	p.Ser218AlafsTer28	p.S218Afs*28	ENST00000369452	NM_007373.3	218	Agc/gc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS7568.1	652	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACTCAGCATG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF437,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000358464	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000369452	Transcript	1	.	ENSG00000108061	15454	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHOC2_HUMAN	SHOC2	HGNC	.	.	UPI0000135954	deletion	SHOC2,frameshift_variant,p.Ser54AlafsTer23,ENST00000451838,;SHOC2,frameshift_variant,p.Ser218AlafsTer28,ENST00000369452,;SHOC2,frameshift_variant,p.Ser218AlafsTer23,ENST00000265277,;SHOC2,intron_variant,,ENST00000489390,;SHOC2,upstream_gene_variant,,ENST00000497305,;SHOC2,downstream_gene_variant,,ENST00000489783,;SHOC2,downstream_gene_variant,,ENST00000480155,;	997	94	155	SUCCESS
PLEKHS1	79949	.	GRCh37	10	115535616	115535616	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	7	128	0	ENST00000369310.3:c.1022G>T	p.Gly341Val	p.G341V	ENST00000369310	NM_182601.1	341	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS53580.1	1022	MUTECT|MUSE	.	CACAGGACGGA	NONE	.	.	hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156	.	.	ENSP00000358316	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000369310	Transcript	.	.	ENSG00000148735	26285	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PKHS1_HUMAN	PLEKHS1	HGNC	.	.	UPI000047020C	SNV	PLEKHS1,missense_variant,p.Gly341Val,ENST00000369310,;PLEKHS1,missense_variant,p.Gly91Val,ENST00000354462,;PLEKHS1,missense_variant,p.Gly361Val,ENST00000361048,;PLEKHS1,missense_variant,p.Gly175Val,ENST00000369309,;PLEKHS1,missense_variant,p.Gly72Val,ENST00000448805,;PLEKHS1,missense_variant,p.Gly259Val,ENST00000369312,;	1584	128	189	SUCCESS
KCNK18	338567	.	GRCh37	10	118969679	118969679	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773008291	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	104	0	ENST00000334549.1:c.1024A>G	p.Ile342Val	p.I342V	ENST00000334549	NM_181840.1	342	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7598.1	1024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCATTTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF91,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000334650	.	3/3	.	.	.	.	.	.	.	.	rs773008291	3/3	PASS	ENST00000334549	Transcript	1	.	ENSG00000186795	19439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.44)	.	KCNKI_HUMAN	KCNK18	HGNC	.	.	UPI0000046427	SNV	KCNK18,missense_variant,p.Ile342Val,ENST00000334549,;	1024	104	123	SUCCESS
BTBD16	118663	.	GRCh37	10	124034559	124034559	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs758017882	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	34	140	0	ENST00000260723.4:c.-38C>G		p.*13*	ENST00000260723	NM_144587.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31301.1	.	RADIA|MUTECT|MUSE	.	GGTTGCTTGTC	NONE	.	.	.	.	.	ENSP00000260723	.	2/16	.	.	.	.	.	.	.	.	rs758017882	2/16	PASS	ENST00000260723	Transcript	.	.	ENSG00000138152	26340	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BTBDG_HUMAN	BTBD16	HGNC	.	.	UPI00003CEFB9	SNV	BTBD16,5_prime_UTR_variant,,ENST00000260723,;BTBD16,5_prime_UTR_variant,,ENST00000368994,;	214	140	165	SUCCESS
BTBD16	118663	.	GRCh37	10	124034593	124034593	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs969519112	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	43	158	1	ENST00000260723.4:c.-4A>G		p.*2*	ENST00000260723	NM_144587.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31301.1	.	RADIA|MUTECT|MUSE	.	CTTTCATTCAT	NONE	.	.	.	.	.	ENSP00000260723	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000260723	Transcript	.	.	ENSG00000138152	26340	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BTBDG_HUMAN	BTBD16	HGNC	.	.	UPI00003CEFB9	SNV	BTBD16,5_prime_UTR_variant,,ENST00000260723,;BTBD16,5_prime_UTR_variant,,ENST00000368994,;	248	159	189	SUCCESS
DMBT1	1755	.	GRCh37	10	124339354	124339354	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs947126229	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	37	137	1	ENST00000338354.3:c.940C>A	p.Pro314Thr	p.P314T	ENST00000338354		314	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS44490.1	940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCCCCAC	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	10/53	.	.	.	.	.	.	.	.	.	10/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.14)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Pro314Thr,ENST00000368956,;DMBT1,missense_variant,p.Pro314Thr,ENST00000330163,;DMBT1,missense_variant,p.Pro314Thr,ENST00000344338,;DMBT1,missense_variant,p.Pro314Thr,ENST00000368955,;DMBT1,missense_variant,p.Pro314Thr,ENST00000368909,;DMBT1,missense_variant,p.Pro314Thr,ENST00000338354,;DMBT1,intron_variant,,ENST00000359586,;	1046	138	138	SUCCESS
GPR123	0	.	GRCh37	10	134910562	134910562	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	31	42	0	ENST00000392607.3:c.88C>A	p.Leu30Ile	p.L30I	ENST00000392607	NM_001083909.1	30	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS41580.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCTCTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261,Pfam_domain:PF00002	.	.	ENSP00000376384	.	3/7	.	.	.	.	.	.	.	.	COSM465459	3/7	PASS	ENST00000392607	Transcript	.	.	ENSG00000197177	13838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.764)	.	deleterious(0.04)	1	GP123_HUMAN	GPR123	HGNC	.	.	UPI00003D41AD	SNV	GPR123,missense_variant,p.Leu750Ile,ENST00000607359,;GPR123,missense_variant,p.Leu30Ile,ENST00000392607,;	524	42	51	SUCCESS
PTER	9317	.	GRCh37	10	16553155	16553155	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	30	112	0	ENST00000378000.1:c.950T>C	p.Leu317Pro	p.L317P	ENST00000378000	NM_001001484.2	317	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS7111.1	950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACTCACCA	NONE	.	.	PROSITE_profiles:PS51347,hmmpanther:PTHR10819,Gene3D:3.20.20.140,Pfam_domain:PF02126,Superfamily_domains:SSF51556	.	.	ENSP00000367239	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000378000	Transcript	.	.	ENSG00000165983	9590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.35)	.	deleterious(0.02)	.	PTER_HUMAN	PTER	HGNC	.	.	UPI00000492E9	SNV	PTER,missense_variant,p.Leu317Pro,ENST00000298942,;PTER,missense_variant,p.Leu317Pro,ENST00000378000,;PTER,missense_variant,p.Leu317Pro,ENST00000535784,;PTER,missense_variant,p.Leu270Pro,ENST00000423462,;C1QL3,downstream_gene_variant,,ENST00000298943,;	1196	112	145	SUCCESS
NEBL	10529	.	GRCh37	10	21120179	21120179	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs727504917	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	35	69	1	ENST00000377122.4:c.1617C>A	p.Ser539Arg	p.S539R	ENST00000377122	NM_006393.2	539	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS7134.1	1617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	TCCATGCTCAC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000366326	.	16/28	.	.	.	.	.	.	.	.	rs727504917	16/28	PASS	ENST00000377122	Transcript	.	.	ENSG00000078114	16932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.197)	.	tolerated(0.53)	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,missense_variant,p.Ser539Arg,ENST00000377122,;NEBL,intron_variant,,ENST00000377159,;NEBL,intron_variant,,ENST00000417816,;NEBL,downstream_gene_variant,,ENST00000482754,;NEBL,upstream_gene_variant,,ENST00000460652,;NEBL,non_coding_transcript_exon_variant,,ENST00000498424,;NEBL,non_coding_transcript_exon_variant,,ENST00000493005,;	2014	70	63	SUCCESS
NEBL	10529	.	GRCh37	10	21178773	21178773	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs139581346	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	163	198	0	ENST00000377122.4:c.258+1G>T		p.X86_splice	ENST00000377122	NM_006393.2	86		0	T:0.0011	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS7134.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTACCTCAG	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000366326	T:0	.	.	.	.	.	.	.	.	.	rs139581346	.	PASS	ENST00000377122	Transcript	.	T:0.0002	ENSG00000078114	16932	.	.	HIGH	3/27	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,splice_donor_variant,,ENST00000377122,;NEBL,splice_donor_variant,,ENST00000377119,;NEBL,splice_donor_variant,,ENST00000434381,;NEBL,intron_variant,,ENST00000377159,;NEBL,intron_variant,,ENST00000417816,;	.	198	284	SUCCESS
KIAA1217	56243	.	GRCh37	10	24833078	24833078	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	58	79	0	ENST00000376454.3:c.4879A>T	p.Arg1627Trp	p.R1627W	ENST00000376454	NM_019590.3	1627	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS31165.1	4879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTAGGTCT	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious(0)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Arg1627Trp,ENST00000376454,;KIAA1217,missense_variant,p.Arg1310Trp,ENST00000376451,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,;KIAA1217,intron_variant,,ENST00000396446,;KIAA1217,intron_variant,,ENST00000376452,;KIAA1217,intron_variant,,ENST00000376462,;KIAA1217,intron_variant,,ENST00000458595,;KIAA1217,downstream_gene_variant,,ENST00000492009,;	4909	79	111	SUCCESS
ARHGAP21	57584	.	GRCh37	10	25010790	25010790	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	132	189	2	ENST00000396432.2:c.39T>C	p.Asp13=	p.D13=	ENST00000396432	NM_020824.3	13	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS7144.2	39	RADIA|VARSCANS	.	TCACCATCTCC	NONE	.	.	hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175	.	.	ENSP00000379709	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000396432	Transcript	.	.	ENSG00000107863	23725	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG21_HUMAN	ARHGAP21	HGNC	E7ESW5_HUMAN	.	UPI0001639C78	SNV	ARHGAP21,synonymous_variant,p.%3D,ENST00000446003,;ARHGAP21,synonymous_variant,p.%3D,ENST00000396432,;ARHGAP21,synonymous_variant,p.%3D,ENST00000376410,;ARHGAP21,synonymous_variant,p.%3D,ENST00000416305,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000472150,;ARHGAP21,downstream_gene_variant,,ENST00000463892,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000476499,;	526	191	215	SUCCESS
PRTFDC1	56952	.	GRCh37	10	25145922	25145922	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs148662493	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	11	123	0	ENST00000320152.6:c.426T>A	p.Asp142Glu	p.D142E	ENST00000320152	NM_020200.5	142	gaT/gaA	0	T:0.0002	.	.	.	.	T	D/E	protein_coding	YES	CCDS7145.1	426	MUTECT|MUSE	.	ACAACATCCTT	NONE	.	.	Superfamily_domains:SSF53271,Pfam_domain:PF00156,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01203,hmmpanther:PTHR22573:SF35,hmmpanther:PTHR22573	.	T:0	ENSP00000318602	.	6/9	.	.	.	.	.	.	.	.	rs148662493	6/9	PASS	ENST00000320152	Transcript	.	.	ENSG00000099256	23333	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.111)	.	deleterious(0)	.	PRDC1_HUMAN	PRTFDC1	HGNC	.	.	UPI0000073D65	SNV	PRTFDC1,missense_variant,p.Asp142Glu,ENST00000376378,;PRTFDC1,missense_variant,p.Asp142Glu,ENST00000320152,;	455	123	151	SUCCESS
PRTFDC1	56952	.	GRCh37	10	25226147	25226147	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs368309249	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	76	0	ENST00000320152.6:c.305T>C	p.Met102Thr	p.M102T	ENST00000320152	NM_020200.5	102	aTg/aCg	0	G:0.0002	G:0	.	G:0.0014	.	G	M/T	protein_coding	YES	CCDS7145.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCATTGAG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF53271,Pfam_domain:PF00156,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01203,hmmpanther:PTHR22573:SF35,hmmpanther:PTHR22573	G:0	G:0	ENSP00000318602	G:0	3/9	.	.	.	.	.	.	.	.	rs368309249	3/9	PASS	ENST00000320152	Transcript	.	G:0.0002	ENSG00000099256	23333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	G:0	tolerated(0.14)	.	PRDC1_HUMAN	PRTFDC1	HGNC	.	.	UPI0000073D65	SNV	PRTFDC1,missense_variant,p.Met102Thr,ENST00000376378,;PRTFDC1,missense_variant,p.Met102Thr,ENST00000376376,;PRTFDC1,missense_variant,p.Met102Thr,ENST00000320152,;	334	76	84	SUCCESS
MYO3A	53904	.	GRCh37	10	26377316	26377316	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200209381	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	40	99	0	ENST00000265944.5:c.1544G>T	p.Arg515Leu	p.R515L	ENST00000265944	NM_017433.4	515	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7148.1	1544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGAGTTA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	15/35	.	.	.	.	.	.	.	.	rs200209381,COSM1297183	15/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	.	deleterious(0.01)	0,1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Arg515Leu,ENST00000265944,;MYO3A,missense_variant,p.Arg515Leu,ENST00000543632,;	1710	99	157	SUCCESS
MYO3A	53904	.	GRCh37	10	26465717	26465717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	79	0	ENST00000265944.5:c.4381G>T	p.Gly1461Cys	p.G1461C	ENST00000265944	NM_017433.4	1461	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7148.1	4381	MUTECT|MUSE	.	ATCTGGGTGTC	NONE	.	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	31/35	.	.	.	.	.	.	.	.	.	31/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.738)	.	deleterious_low_confidence(0)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Gly1461Cys,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	4547	79	89	SUCCESS
ANKRD26	22852	.	GRCh37	10	27306632	27306632	+	synonymous_variant	Silent	SNP	T	T	C	rs975527692	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	88	90	0	ENST00000376087.4:c.4305A>G	p.Leu1435=	p.L1435=	ENST00000376087	NM_014915.2	1435	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS41499.1	4305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGATAACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57997,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,synonymous_variant,p.%3D,ENST00000376087,;ANKRD26,synonymous_variant,p.%3D,ENST00000376070,;ANKRD26,synonymous_variant,p.%3D,ENST00000436985,;ANKRD26,upstream_gene_variant,,ENST00000445828,;	4471	90	149	SUCCESS
PARD3	56288	.	GRCh37	10	34759158	34759158	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	105	0	ENST00000374789.3:c.437C>T	p.Pro146Leu	p.P146L	ENST00000374789	NM_019619.3	146	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7178.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGGGTCA	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484,Pfam_domain:PF12053	.	.	ENSP00000363921	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,missense_variant,p.Pro146Leu,ENST00000545260,;PARD3,missense_variant,p.Pro146Leu,ENST00000545693,;PARD3,missense_variant,p.Pro146Leu,ENST00000374788,;PARD3,missense_variant,p.Pro146Leu,ENST00000340077,;PARD3,missense_variant,p.Pro146Leu,ENST00000374790,;PARD3,missense_variant,p.Pro146Leu,ENST00000374776,;PARD3,missense_variant,p.Pro146Leu,ENST00000374773,;PARD3,missense_variant,p.Pro146Leu,ENST00000374794,;PARD3,missense_variant,p.Pro146Leu,ENST00000350537,;PARD3,missense_variant,p.Pro146Leu,ENST00000374789,;PARD3,missense_variant,p.Pro146Leu,ENST00000346874,;	763	105	123	SUCCESS
RP11-313J2.1	0	.	GRCh37	10	42831511	42831511	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	8	0	ENST00000609841.1:n.2393A>T		p.*798*	ENST00000609841				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TATAGTAAGGC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000609841	Transcript	.	.	ENSG00000215146	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-313J2.1	Clone_based_vega_gene	.	.	.	SNV	RP11-313J2.1,non_coding_transcript_exon_variant,,ENST00000609841,;RP11-313J2.1,downstream_gene_variant,,ENST00000609034,;RP11-313J2.1,downstream_gene_variant,,ENST00000423987,;	2393	8	14	SUCCESS
WDFY4	57705	.	GRCh37	10	49982657	49982657	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	37	80	0	ENST00000325239.5:c.2708C>A	p.Ser903Ter	p.S903*	ENST00000325239	NM_020945.1	903	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS44385.1	2708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCACGCC	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000320563	.	13/61	.	.	.	.	.	.	.	.	.	13/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,stop_gained,p.Ser903Ter,ENST00000413659,;WDFY4,stop_gained,p.Ser903Ter,ENST00000325239,;	2735	80	124	SUCCESS
MBL2	4153	.	GRCh37	10	54528161	54528161	+	synonymous_variant	Silent	SNP	A	A	C	rs760332285	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	43	135	0	ENST00000373968.3:c.483T>G	p.Ser161=	p.S161=	ENST00000373968	NM_000242.2	161	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7247.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACAGAGGC	NONE	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF2,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000363079	.	4/4	.	.	.	.	.	.	.	.	rs760332285	4/4	PASS	ENST00000373968	Transcript	1	.	ENSG00000165471	6922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBL2_HUMAN	MBL2	HGNC	Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN	.	UPI0000035011	SNV	MBL2,synonymous_variant,p.%3D,ENST00000373968,;	548	135	138	SUCCESS
FAM208B	0	.	GRCh37	10	5789185	5789185	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	11	84	0	ENST00000328090.5:c.3801G>T	p.Val1267=	p.V1267=	ENST00000328090	NM_017782.4	1267	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS41485.1	3801	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGAGTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	15/21	.	.	.	.	.	.	.	.	COSM3807369	15/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,synonymous_variant,p.%3D,ENST00000328090,;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;	4426	84	119	SUCCESS
CISD1	55847	.	GRCh37	10	60028962	60028962	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	10	0	ENST00000333926.5:c.-72T>G		p.*24*	ENST00000333926	NM_018464.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7251.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTTACTC	NONE	.	.	.	.	.	ENSP00000363041	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000333926	Transcript	.	.	ENSG00000122873	30880	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CISD1_HUMAN	CISD1	HGNC	.	.	UPI000012EDFF	SNV	CISD1,5_prime_UTR_variant,,ENST00000333926,;IPMK,upstream_gene_variant,,ENST00000373935,;CISD1,non_coding_transcript_exon_variant,,ENST00000464703,;CISD1,upstream_gene_variant,,ENST00000488388,;CISD1,upstream_gene_variant,,ENST00000489785,;	145	10	18	SUCCESS
FAM13C	220965	.	GRCh37	10	61014197	61014197	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	100	1	ENST00000373868.2:c.1243A>C	p.Lys415Gln	p.K415Q	ENST00000373868	NM_198215.3	415	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS7255.1	1243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTTAGTTA	NONE	.	.	hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	deleterious(0.04)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,missense_variant,p.Lys317Gln,ENST00000419214,;FAM13C,missense_variant,p.Lys415Gln,ENST00000422313,;FAM13C,missense_variant,p.Lys332Gln,ENST00000468840,;FAM13C,missense_variant,p.Lys415Gln,ENST00000373868,;FAM13C,missense_variant,p.Lys436Gln,ENST00000277705,;FAM13C,missense_variant,p.Lys436Gln,ENST00000442566,;FAM13C,missense_variant,p.Lys415Gln,ENST00000435852,;FAM13C,missense_variant,p.Lys332Gln,ENST00000373867,;FAM13C,non_coding_transcript_exon_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;	1331	102	106	SUCCESS
SLC16A9	220963	.	GRCh37	10	61443920	61443920	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	217	11	197	0	ENST00000395347.1:c.130T>C	p.Phe44Leu	p.F44L	ENST00000395347		44	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7256.1	130	MUTECT|MUSE	.	ACCAAAGGCAT	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850	.	.	ENSP00000378757	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000395348	Transcript	.	.	ENSG00000165449	23520	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.855)	.	deleterious(0)	.	MOT9_HUMAN	SLC16A9	HGNC	.	.	UPI000004D33D	SNV	SLC16A9,missense_variant,p.Phe44Leu,ENST00000395347,;SLC16A9,missense_variant,p.Phe44Leu,ENST00000395348,;SLC16A9,non_coding_transcript_exon_variant,,ENST00000490066,;	767	197	229	SUCCESS
ANK3	288	.	GRCh37	10	61829030	61829030	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	191	235	0	ENST00000280772.2:c.11609C>A	p.Thr3870Asn	p.T3870N	ENST00000280772	NM_020987.3	3870	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS7258.1	11609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAGTGGCC	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Thr3870Asn,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;ANK3,intron_variant,,ENST00000355288,;ANK3,upstream_gene_variant,,ENST00000514197,;ANK3,upstream_gene_variant,,ENST00000459732,;	11801	235	332	SUCCESS
RUFY2	55680	.	GRCh37	10	70141014	70141014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	34	77	0	ENST00000388768.2:c.1187A>T	p.Asn396Ile	p.N396I	ENST00000388768	NM_017987.4	396	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS41534.1	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGTTAATT	NONE	.	.	hmmpanther:PTHR22835:SF104,hmmpanther:PTHR22835	.	.	ENSP00000373420	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000388768	Transcript	.	.	ENSG00000204130	19761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	RUFY2_HUMAN	RUFY2	HGNC	.	.	UPI000046FD20	SNV	RUFY2,missense_variant,p.Asn327Ile,ENST00000399200,;RUFY2,missense_variant,p.Asn396Ile,ENST00000388768,;RUFY2,missense_variant,p.Asn303Ile,ENST00000454950,;RUFY2,missense_variant,p.Asn361Ile,ENST00000602465,;RUFY2,upstream_gene_variant,,ENST00000265865,;RUFY2,non_coding_transcript_exon_variant,,ENST00000472394,;RUFY2,upstream_gene_variant,,ENST00000484083,;RUFY2,upstream_gene_variant,,ENST00000491118,;RUFY2,missense_variant,p.Asn375Ile,ENST00000466493,;	1514	77	108	SUCCESS
SAR1A	56681	.	GRCh37	10	71917592	71917592	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	84	0	ENST00000373238.1:c.276A>C	p.Ala92=	p.A92=	ENST00000373238		92	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7298.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATTGCTGG	NONE	.	.	PROSITE_profiles:PS51422,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF141,Pfam_domain:PF00025,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000362339	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000373242	Transcript	.	.	ENSG00000079332	10534	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAR1A_HUMAN	SAR1A	HGNC	Q5SQT9_HUMAN,B4DQ19_HUMAN	.	UPI0000000DB4	SNV	SAR1A,synonymous_variant,p.%3D,ENST00000373238,;SAR1A,synonymous_variant,p.%3D,ENST00000458634,;SAR1A,synonymous_variant,p.%3D,ENST00000373236,;SAR1A,synonymous_variant,p.%3D,ENST00000373242,;SAR1A,synonymous_variant,p.%3D,ENST00000431664,;SAR1A,synonymous_variant,p.%3D,ENST00000373241,;SAR1A,upstream_gene_variant,,ENST00000452767,;SAR1A,downstream_gene_variant,,ENST00000373239,;SAR1A,downstream_gene_variant,,ENST00000477464,;	473	84	118	SUCCESS
PSAP	5660	.	GRCh37	10	73591653	73591653	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779915400	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	16	76	0	ENST00000394936.3:c.199A>G	p.Lys67Glu	p.K67E	ENST00000394936		67	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS7311.1	199	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTTGCATA	NONE	.	.	PROSITE_profiles:PS50015,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF36,Gene3D:1.10.225.10,Pfam_domain:PF05184,PIRSF_domain:PIRSF002431,SMART_domains:SM00741,Superfamily_domains:SSF47862,Prints_domain:PR01797	.	.	ENSP00000378394	.	3/14	.	.	.	.	.	.	.	.	rs779915400	3/14	PASS	ENST00000394936	Transcript	1	.	ENSG00000197746	9498	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.483)	.	deleterious(0)	.	SAP_HUMAN	PSAP	HGNC	.	.	UPI0000000DBF	SNV	PSAP,missense_variant,p.Lys67Glu,ENST00000394934,;PSAP,missense_variant,p.Lys67Glu,ENST00000394936,;	347	76	106	SUCCESS
SEC24C	9632	.	GRCh37	10	75525661	75525661	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	116	0	ENST00000339365.2:c.1470A>T	p.Val490=	p.V490=	ENST00000339365	NM_004922.3	490	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS7332.1	1470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTAGATTA	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5,Superfamily_domains:SSF82919	.	.	ENSP00000343405	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000339365	Transcript	.	.	ENSG00000176986	10705	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC24C_HUMAN	SEC24C	HGNC	B4DZT4_HUMAN	.	UPI000013F621	SNV	SEC24C,synonymous_variant,p.%3D,ENST00000345254,;SEC24C,synonymous_variant,p.%3D,ENST00000411652,;SEC24C,synonymous_variant,p.%3D,ENST00000339365,;SEC24C,intron_variant,,ENST00000546025,;SEC24C,intron_variant,,ENST00000540668,;SEC24C,intron_variant,,ENST00000535742,;SEC24C,upstream_gene_variant,,ENST00000496827,;SEC24C,synonymous_variant,p.%3D,ENST00000465076,;	1632	116	100	SUCCESS
SFTPA1	653509	.	GRCh37	10	81371581	81371581	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs774918690	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	138	304	1	ENST00000398636.3:c.-1C>A		p.*1*	ENST00000398636	NM_005411.4	15		0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44444.2	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCATGTG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF13	.	.	ENSP00000397082	.	3/6	.	.	.	.	.	.	.	.	rs774918690	3/6	PASS	ENST00000419470	Transcript	1	.	ENSG00000122852	10798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFTA1_HUMAN	SFTPA1	HGNC	B7Z4Y4_HUMAN,J3KPA7_HUMAN,B4DNW5_HUMAN,B4DNR9_HUMAN	.	UPI00006C104C	SNV	SFTPA1,synonymous_variant,p.%3D,ENST00000419470,;SFTPA1,5_prime_UTR_variant,,ENST00000429958,;SFTPA1,5_prime_UTR_variant,,ENST00000428376,;SFTPA1,5_prime_UTR_variant,,ENST00000372308,;SFTPA1,5_prime_UTR_variant,,ENST00000439264,;SFTPA1,5_prime_UTR_variant,,ENST00000398636,;SFTPA1,intron_variant,,ENST00000372313,;SFTPA1,non_coding_transcript_exon_variant,,ENST00000486922,;	121	305	381	SUCCESS
CDHR1	92211	.	GRCh37	10	85970915	85970915	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	39	103	1	ENST00000372117.3:c.1479T>A	p.Ala493=	p.A493=	ENST00000372117	NM_033100.3	493	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7372.1	1479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCTGTCAC	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,synonymous_variant,p.%3D,ENST00000372117,;CDHR1,synonymous_variant,p.%3D,ENST00000332904,;CDHR1,intron_variant,,ENST00000440770,;CDHR1,upstream_gene_variant,,ENST00000459673,;	1582	104	127	SUCCESS
LRIT1	26103	.	GRCh37	10	85992413	85992413	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	105	148	1	ENST00000372105.3:c.1142G>T	p.Arg381Met	p.R381M	ENST00000372105	NM_015613.2	381	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS7373.1	1142	RADIA|SOMATICSNIPER|VARSCANS	.	CATGCCTGGCC	NONE	.	.	hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367	.	.	ENSP00000361177	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Arg381Met,ENST00000372105,;	1164	149	181	SUCCESS
LDB3	11155	.	GRCh37	10	88441277	88441277	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	33	0	ENST00000361373.4:c.406C>A	p.Pro136Thr	p.P136T	ENST00000361373	NM_007078.2	136	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS53550.1	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCCGGAG	NONE	.	.	hmmpanther:PTHR24214:SF9,hmmpanther:PTHR24214	.	.	ENSP00000401437	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.37)	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,missense_variant,p.Pro136Thr,ENST00000372056,;LDB3,missense_variant,p.Pro136Thr,ENST00000361373,;LDB3,missense_variant,p.Pro136Thr,ENST00000542786,;LDB3,missense_variant,p.Pro136Thr,ENST00000310944,;LDB3,missense_variant,p.Pro136Thr,ENST00000429277,;LDB3,intron_variant,,ENST00000372066,;LDB3,intron_variant,,ENST00000458213,;LDB3,intron_variant,,ENST00000352360,;LDB3,intron_variant,,ENST00000263066,;	551	33	60	SUCCESS
IFIT5	24138	.	GRCh37	10	91174557	91174558	+	frameshift_variant,start_lost	Frame_Shift_Ins	INS	-	-	GA	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	36	0	ENST00000371795.4:c.4_5dup	p.Ser2?	p.S2?	ENST00000371795	NM_012420.2	1	atg/atGAg	0	.	.	.	.	.	GA	M/MX	protein_coding	YES	CCDS7403.1	2-3	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCATGAGGT	NONE	.	.	hmmpanther:PTHR10271:SF5,hmmpanther:PTHR10271	.	.	ENSP00000360860	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000371795	Transcript	.	.	ENSG00000152778	13328	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFIT5_HUMAN	IFIT5	HGNC	.	.	UPI000012D3E6	insertion	IFIT5,frameshift_variant,p.Ser2ArgfsTer9,ENST00000371795,;IFIT5,frameshift_variant,p.Ser2ArgfsTer9,ENST00000416601,;LIPA,upstream_gene_variant,,ENST00000371837,;	215-216	36	106	SUCCESS
TRPC6	7225	.	GRCh37	11	101375282	101375282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	112	0	ENST00000344327.3:c.418G>T	p.Ala140Ser	p.A140S	ENST00000344327	NM_004621.5	140	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8311.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCCAACT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000340913	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,missense_variant,p.Ala140Ser,ENST00000532133,;TRPC6,missense_variant,p.Ala140Ser,ENST00000348423,;TRPC6,missense_variant,p.Ala140Ser,ENST00000344327,;TRPC6,missense_variant,p.Ala140Ser,ENST00000360497,;TRPC6,downstream_gene_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;	843	112	92	SUCCESS
DYNC2H1	79659	.	GRCh37	11	102991298	102991298	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs754799227	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	54	128	1	ENST00000375735.2:c.1122T>G	p.Asn374Lys	p.N374K	ENST00000375735	NM_001080463.1	374	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS44717.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATCCATA	NONE	byFrequency	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08385	.	.	ENSP00000381167	.	7/90	.	.	.	.	.	.	.	.	rs754799227	7/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Asn374Lys,ENST00000398093,;DYNC2H1,missense_variant,p.Asn374Lys,ENST00000334267,;DYNC2H1,missense_variant,p.Asn374Lys,ENST00000375735,;	1122	129	130	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103026215	103026215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	130	0	ENST00000375735.2:c.3729A>T	p.Lys1243Asn	p.K1243N	ENST00000375735	NM_001080463.1	1243	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS44717.1	3729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAAGCTGC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08393	.	.	ENSP00000381167	.	25/90	.	.	.	.	.	.	.	.	.	25/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Lys1243Asn,ENST00000398093,;DYNC2H1,missense_variant,p.Lys1243Asn,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	3729	130	117	SUCCESS
MUC6	4588	.	GRCh37	11	1031239	1031239	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	107	0	ENST00000421673.2:c.504C>G	p.Tyr168Ter	p.Y168*	ENST00000421673	NM_005961.2	168	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS44513.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATGTACTT	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,PROSITE_profiles:PS51233	.	.	ENSP00000406861	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,stop_gained,p.Tyr168Ter,ENST00000421673,;MUC6,downstream_gene_variant,,ENST00000525923,;	555	107	113	SUCCESS
ELMOD1	55531	.	GRCh37	11	107526788	107526788	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	75	0	ENST00000265840.7:c.828A>G	p.Thr276=	p.T276=	ENST00000265840	NM_018712.3	276	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS44723.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACATTCTG	NONE	.	.	Pfam_domain:PF04727,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF18,PROSITE_profiles:PS51335	.	.	ENSP00000265840	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000265840	Transcript	.	.	ENSG00000110675	25334	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMD1_HUMAN	ELMOD1	HGNC	E9PLM8_HUMAN	.	UPI000006DF30	SNV	ELMOD1,synonymous_variant,p.%3D,ENST00000443271,;ELMOD1,synonymous_variant,p.%3D,ENST00000531234,;ELMOD1,synonymous_variant,p.%3D,ENST00000265840,;ELMOD1,downstream_gene_variant,,ENST00000534236,;	1093	75	55	SUCCESS
C11orf65	160140	.	GRCh37	11	108264018	108264018	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	74	279	1	ENST00000393084.1:c.648T>C	p.Ala216=	p.A216=	ENST00000393084	NM_152587.3	216	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8340.1	648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAAGCTCT	NONE	.	.	.	.	.	ENSP00000376799	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000393084	Transcript	.	.	ENSG00000166323	28519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK065_HUMAN	C11orf65	HGNC	.	.	UPI000006DEE6	SNV	C11orf65,synonymous_variant,p.%3D,ENST00000393084,;C11orf65,synonymous_variant,p.%3D,ENST00000524755,;C11orf65,synonymous_variant,p.%3D,ENST00000525729,;C11orf65,synonymous_variant,p.%3D,ENST00000529391,;C11orf65,downstream_gene_variant,,ENST00000533583,;C11orf65,non_coding_transcript_exon_variant,,ENST00000526725,;C11orf65,synonymous_variant,p.%3D,ENST00000527531,;	718	281	200	SUCCESS
DDX10	1662	.	GRCh37	11	108709284	108709284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	60	220	0	ENST00000322536.3:c.2077G>A	p.Glu693Lys	p.E693K	ENST00000322536	NM_004398.2	693	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8342.1	2077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGAAGGG	NONE	.	.	.	.	.	ENSP00000314348	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000322536	Transcript	.	.	ENSG00000178105	2735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	deleterious(0.01)	.	DDX10_HUMAN	DDX10	HGNC	.	.	UPI0000140E62	SNV	DDX10,missense_variant,p.Glu693Lys,ENST00000526794,;DDX10,missense_variant,p.Glu693Lys,ENST00000322536,;DDX10,non_coding_transcript_exon_variant,,ENST00000534439,;DDX10,non_coding_transcript_exon_variant,,ENST00000533198,;	2206	220	178	SUCCESS
MUC2	4583	.	GRCh37	11	1087958	1087958	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	85	0	ENST00000441003.2:c.3433T>C	p.Cys1145Arg	p.C1145R	ENST00000441003	NM_002457.2	1145	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	.	3433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTGCAGG	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Gene3D:2.10.25.10	.	.	ENSP00000415183	.	25/49	.	.	.	.	.	.	.	.	.	25/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Cys1145Arg,ENST00000441003,;MUC2,missense_variant,p.Cys1145Arg,ENST00000359061,;MUC2,upstream_gene_variant,,ENST00000361558,;	3460	85	57	SUCCESS
RNF214	257160	.	GRCh37	11	117109396	117109396	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	54	144	0	ENST00000300650.4:c.187A>T	p.Arg63Ter	p.R63*	ENST00000300650	NM_207343.3	63	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS41720.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACAGAAAT	NONE	.	.	hmmpanther:PTHR15727	.	.	ENSP00000431643	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000531452	Transcript	.	.	ENSG00000167257	25335	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN214_HUMAN	RNF214	HGNC	E9PRE9_HUMAN	.	UPI00001D7749	SNV	RNF214,stop_gained,p.Arg63Ter,ENST00000531452,;RNF214,stop_gained,p.Arg63Ter,ENST00000300650,;RNF214,stop_gained,p.Arg63Ter,ENST00000534428,;RNF214,intron_variant,,ENST00000531287,;RNF214,intron_variant,,ENST00000530849,;RNF214,non_coding_transcript_exon_variant,,ENST00000529869,;	233	144	129	SUCCESS
DSCAML1	57453	.	GRCh37	11	117387274	117387274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	20	119	0	ENST00000321322.6:c.1871T>A	p.Val624Glu	p.V624E	ENST00000321322	NM_020693.2	624	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8384.1	1871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCACGTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	8/33	.	.	.	.	.	.	.	.	.	8/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Val354Glu,ENST00000527706,;DSCAML1,missense_variant,p.Val624Glu,ENST00000321322,;	1873	120	81	SUCCESS
OR6T1	219874	.	GRCh37	11	123814484	123814484	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	43	128	1	ENST00000321252.2:c.62A>T	p.His21Leu	p.H21L	ENST00000321252	NM_001005187.1	21	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS31700.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTGGCTA	NONE	.	.	hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF91,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000325203	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321252	Transcript	.	.	ENSG00000181499	14848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.65)	.	OR6T1_HUMAN	OR6T1	HGNC	.	.	UPI0000040A85	SNV	OR6T1,missense_variant,p.His21Leu,ENST00000321252,;OR4D5,downstream_gene_variant,,ENST00000307033,;	97	129	94	SUCCESS
CDON	50937	.	GRCh37	11	125891234	125891234	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	74	0	ENST00000392693.3:c.258T>C	p.Ser86=	p.S86=	ENST00000392693	NM_001243597.1	86	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS58192.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGAGAAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000376458	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000392693	Transcript	.	.	ENSG00000064309	17104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDON_HUMAN	CDON	HGNC	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN	.	UPI0000E0013A	SNV	CDON,synonymous_variant,p.%3D,ENST00000534818,;CDON,synonymous_variant,p.%3D,ENST00000534661,;CDON,synonymous_variant,p.%3D,ENST00000527967,;CDON,synonymous_variant,p.%3D,ENST00000263577,;CDON,synonymous_variant,p.%3D,ENST00000392693,;CDON,synonymous_variant,p.%3D,ENST00000531586,;CDON,non_coding_transcript_exon_variant,,ENST00000525625,;CDON,upstream_gene_variant,,ENST00000531830,;	386	74	55	SUCCESS
NTM	50863	.	GRCh37	11	131781280	131781280	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	46	1	ENST00000374786.1:c.-96C>A		p.*32*	ENST00000374786	NM_001144058.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44777.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCCCGCG	NONE	.	76	.	.	.	ENSP00000396722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425719	Transcript	.	.	ENSG00000182667	17941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTRI_HUMAN	NTM	HGNC	.	.	UPI00001A58B9	SNV	NTM,5_prime_UTR_variant,,ENST00000374786,;NTM,intron_variant,,ENST00000436745,;NTM,intron_variant,,ENST00000374791,;NTM,intron_variant,,ENST00000539799,;NTM,intron_variant,,ENST00000550167,;NTM,intron_variant,,ENST00000427481,;NTM,upstream_gene_variant,,ENST00000374784,;NTM,upstream_gene_variant,,ENST00000425719,;NTM,intron_variant,,ENST00000498764,;NTM,intron_variant,,ENST00000463395,;NTM,intron_variant,,ENST00000470371,;NTM,upstream_gene_variant,,ENST00000479431,;	.	47	38	SUCCESS
IGSF9B	22997	.	GRCh37	11	133807314	133807314	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	92	0	ENST00000321016.8:c.636C>T	p.Ser212=	p.S212=	ENST00000321016		212	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS61010.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATGCTGTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000436552	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,synonymous_variant,p.%3D,ENST00000533160,;IGSF9B,synonymous_variant,p.%3D,ENST00000533871,;IGSF9B,synonymous_variant,p.%3D,ENST00000321016,;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,;	867	92	74	SUCCESS
KRTAP5-1	387264	.	GRCh37	11	1605913	1605913	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	100	0	ENST00000382171.2:c.567T>C	p.Ser189=	p.S189=	ENST00000382171	NM_001005922.1	189	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31330.1	567	MUTECT|MUSE	.	CCACAAGAACC	BUFFER|p.S193Y|c.578C>A|3,BUFFER|p.G192G|c.576A>C|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262	.	.	ENSP00000371606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382171	Transcript	.	.	ENSG00000205869	23596	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRA51_HUMAN	KRTAP5-1	HGNC	.	.	UPI000037605D	SNV	KRTAP5-1,synonymous_variant,p.%3D,ENST00000382171,;KRTAP5-AS1,intron_variant,,ENST00000534077,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;	601	100	75	SUCCESS
KRTAP5-3	387266	.	GRCh37	11	1629498	1629498	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	112	0	ENST00000399685.1:c.118T>A	p.Cys40Ser	p.C40S	ENST00000399685	NM_001012708.2	40	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS41591.1	118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF16	.	.	ENSP00000382592	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399685	Transcript	.	.	ENSG00000196224	23598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.16)	.	KRA53_HUMAN	KRTAP5-3	HGNC	.	.	UPI000037605E	SNV	KRTAP5-3,missense_variant,p.Cys40Ser,ENST00000399685,;	196	112	84	SUCCESS
KRTAP5-6	440023	.	GRCh37	11	1718512	1718532	+	inframe_deletion	In_Frame_Del	DEL	GGCTGTGGGGGCTGTGGCTCT	GGCTGTGGGGGCTGTGGCTCT	-	rs747687981	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	GGCTGTGGGGGCTGTGGCTCT	GGCTGTGGGGGCTGTGGCTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	87	39	139	0	ENST00000382160.1:c.54_74del	p.Gly20_Ser26del	p.G20_S26del	ENST00000382160	NM_001012416.1	13	GGCTGTGGGGGCTGTGGCTCT/-	0	-:0.0934	.	.	.	.	-	GCGGCGS/-	protein_coding	YES	CCDS31332.1	37-57	INDELOCATOR|VARSCANI	.	GGCTCCGGCTGTGGGGGCTGTGGCTCTGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262	.	-:0.0328	ENSP00000371595	.	1/1	.	.	.	.	.	.	.	.	rs747687981,COSM1475301	1/1	PASS	ENST00000382160	Transcript	.	.	ENSG00000205864	23600	17	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	KRA56_HUMAN	KRTAP5-6	HGNC	.	.	UPI0000376060	deletion	KRTAP5-6,inframe_deletion,p.Gly20_Ser26del,ENST00000382160,;	88-108	140	126	SUCCESS
ZDHHC13	54503	.	GRCh37	11	19170802	19170802	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	126	0	ENST00000446113.2:c.443A>C	p.Glu148Ala	p.E148A	ENST00000446113	NM_019028.2	148	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS44550.1	443	RADIA|MUTECT|MUSE	.	TGGAGAGGGAT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF16,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000400113	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000446113	Transcript	.	.	ENSG00000177054	18413	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.832)	.	deleterious(0)	.	ZDH13_HUMAN	ZDHHC13	HGNC	.	.	UPI000015F967	SNV	ZDHHC13,missense_variant,p.Glu18Ala,ENST00000399351,;ZDHHC13,missense_variant,p.Glu148Ala,ENST00000446113,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532026,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000530698,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532812,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000525490,;	564	126	128	SUCCESS
ZDHHC13	54503	.	GRCh37	11	19170823	19170823	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs779529361	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	53	122	0	ENST00000446113.2:c.464T>A	p.Leu155Gln	p.L155Q	ENST00000446113	NM_019028.2	155	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44550.1	464	RADIA|MUTECT|MUSE	.	CCACCTGGCAG	NONE	byFrequency	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF16,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000400113	.	5/17	.	.	.	.	.	.	.	.	rs779529361	5/17	PASS	ENST00000446113	Transcript	.	.	ENSG00000177054	18413	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZDH13_HUMAN	ZDHHC13	HGNC	.	.	UPI000015F967	SNV	ZDHHC13,missense_variant,p.Leu25Gln,ENST00000399351,;ZDHHC13,missense_variant,p.Leu155Gln,ENST00000446113,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000530698,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532812,;ZDHHC13,downstream_gene_variant,,ENST00000532026,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000525490,;	585	123	120	SUCCESS
SLC6A5	9152	.	GRCh37	11	20652295	20652295	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	49	140	0	ENST00000525748.1:c.1558A>C	p.Ile520Leu	p.I520L	ENST00000525748	NM_004211.3	520	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS7854.1	1558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCATCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF107,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000434364	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000525748	Transcript	.	.	ENSG00000165970	11051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	SC6A5_HUMAN	SLC6A5	HGNC	.	.	UPI00004564A5	SNV	SLC6A5,missense_variant,p.Ile520Leu,ENST00000525748,;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	1831	140	125	SUCCESS
KIF18A	81930	.	GRCh37	11	28119476	28119476	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	59	124	1	ENST00000263181.6:c.19G>T	p.Asp7Tyr	p.D7Y	ENST00000263181	NM_031217.3	7	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS7867.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCTTCCT	NONE	.	.	hmmpanther:PTHR24115:SF399,hmmpanther:PTHR24115	.	.	ENSP00000263181	.	2/17	.	.	.	.	.	.	.	.	COSM1188196	2/17	PASS	ENST00000263181	Transcript	.	.	ENSG00000121621	29441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.855)	.	deleterious(0)	1	KI18A_HUMAN	KIF18A	HGNC	.	.	UPI0000037CCC	SNV	KIF18A,missense_variant,p.Asp7Tyr,ENST00000263181,;KIF18A,non_coding_transcript_exon_variant,,ENST00000526288,;KIF18A,upstream_gene_variant,,ENST00000533466,;	310	125	143	SUCCESS
HIPK3	10114	.	GRCh37	11	33358716	33358716	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755406392	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	83	0	ENST00000303296.4:c.1317G>T	p.Met439Ile	p.M439I	ENST00000303296	NM_005734.4	439	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7884.1	1317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATGTCTCA	NONE	byFrequency	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000304226	.	4/17	.	.	.	.	.	.	.	.	rs755406392	4/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Met439Ile,ENST00000525975,;HIPK3,missense_variant,p.Met439Ile,ENST00000456517,;HIPK3,missense_variant,p.Met439Ile,ENST00000379016,;HIPK3,missense_variant,p.Met439Ile,ENST00000303296,;HIPK3,non_coding_transcript_exon_variant,,ENST00000534262,;	1622	83	56	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33628353	33628353	+	synonymous_variant	Silent	SNP	A	A	T	rs557858789	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	112	0	ENST00000321505.4:c.4155A>T	p.Ala1385=	p.A1385=	ENST00000321505		1385	gcA/gcT	0	.	G:0	.	G:0	.	T	A	protein_coding	YES	CCDS44565.2	4155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCAGTCCT	NONE	by1000G	.	Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	G:0	.	ENSP00000315295	G:0	13/20	.	.	.	.	.	.	.	.	rs557858789	13/20	PASS	ENST00000321505	Transcript	.	G:0.0002	ENSG00000110427	24836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,synonymous_variant,p.%3D,ENST00000321505,;KIAA1549L,synonymous_variant,p.%3D,ENST00000526400,;KIAA1549L,synonymous_variant,p.%3D,ENST00000389726,;	4335	112	111	SUCCESS
ELF5	2001	.	GRCh37	11	34515128	34515128	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	111	0	ENST00000312319.2:c.283A>T	p.Ser95Cys	p.S95C	ENST00000312319	NM_001243081.1	95	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS7892.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGATGT	NONE	.	.	PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF15,Gene3D:1.10.150.50,Pfam_domain:PF02198,SMART_domains:SM00251,Superfamily_domains:SSF47769	.	.	ENSP00000311010	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000312319	Transcript	.	.	ENSG00000135374	3320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.458)	.	deleterious(0)	.	ELF5_HUMAN	ELF5	HGNC	A8K443_HUMAN	.	UPI000006EFE4	SNV	ELF5,missense_variant,p.Ser85Cys,ENST00000257832,;ELF5,missense_variant,p.Ser85Cys,ENST00000532417,;ELF5,missense_variant,p.Ser95Cys,ENST00000312319,;ELF5,intron_variant,,ENST00000429939,;ELF5,intron_variant,,ENST00000528709,;	513	111	88	SUCCESS
OR51A4	401666	.	GRCh37	11	4967735	4967735	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1219554551	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	443	213	645	2	ENST00000380373.2:c.596T>C	p.Ile199Thr	p.I199T	ENST00000380373	NM_001005329.1	199	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31367.1	596	RADIA|VARSCANS	.	CATAGATAACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF61,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369731	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380373	Transcript	.	.	ENSG00000205497	14795	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.899)	.	deleterious(0.01)	.	O51A4_HUMAN	OR51A4	HGNC	.	.	UPI0000047195	SNV	OR51A4,missense_variant,p.Ile199Thr,ENST00000380373,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	622	647	656	SUCCESS
OR51L1	119682	.	GRCh37	11	5020779	5020779	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	52	156	1	ENST00000321543.1:c.567A>G	p.Leu189=	p.L189=	ENST00000321543	NM_001004755.1	189	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS31369.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTATCCTG	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,synonymous_variant,p.%3D,ENST00000321543,;	567	158	119	SUCCESS
OR51V1	283111	.	GRCh37	11	5221747	5221747	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763605050	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	124	1	ENST00000321255.1:c.184C>A	p.Pro62Thr	p.P62T	ENST00000321255	NM_001004760.2	62	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS31375.1	184	RADIA|SOMATICSNIPER|VARSCANS	.	GCTTGGCTCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF67,hmmpanther:PTHR26450,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000321729	.	1/1	.	.	.	.	.	.	.	.	rs763605050	1/1	PASS	ENST00000321255	Transcript	.	.	ENSG00000176742	19597	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.507)	.	deleterious(0.04)	.	O51V1_HUMAN	OR51V1	HGNC	.	.	UPI0000140ADA	SNV	OR51V1,missense_variant,p.Pro62Thr,ENST00000321255,;AC104389.16,upstream_gene_variant,,ENST00000418080,;	184	125	80	SUCCESS
TRIM51HP	440041	.	GRCh37	11	55065414	55065414	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	69	0	ENST00000530412.1:n.333T>C		p.*111*	ENST00000530412				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGAGCAGG	NONE	.	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000530412	Transcript	.	.	ENSG00000166007	43977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TRIM51HP	HGNC	.	.	.	SNV	TRIM51HP,non_coding_transcript_exon_variant,,ENST00000526016,;TRIM51HP,non_coding_transcript_exon_variant,,ENST00000530412,;RP11-72M10.5,downstream_gene_variant,,ENST00000534192,;	333	69	77	SUCCESS
OR8H2	390151	.	GRCh37	11	55873220	55873220	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753975492	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	68	146	0	ENST00000313503.1:c.702G>T	p.Lys234Asn	p.K234N	ENST00000313503	NM_001005200.1	234	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS31518.1	702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGCAGAA	NONE	byFrequency	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	rs753975492,COSM429204	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.978)	.	deleterious(0)	0,1	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.Lys234Asn,ENST00000313503,;	702	146	170	SUCCESS
OR8J3	81168	.	GRCh37	11	55904573	55904573	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1384094	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	47	0	ENST00000301529.1:c.622G>T	p.Val208Phe	p.V208F	ENST00000301529	NM_001004064.1	208	Gtt/Ttt	0	A:0.0118	A:0.0159	.	A:0	.	A	V/F	protein_coding	YES	CCDS31520.1	622	RADIA|MUSE	.	AAAAACCAAAT	NONE	byFrequency|byCluster|byHapMap|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	A:0	A:0.0001	ENSP00000301529	A:0	1/1	.	.	.	.	.	.	.	.	rs1384094,COSM1354579	1/1	common_in_exac	ENST00000301529	Transcript	.	A:0.0042	ENSG00000167822	15312	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.02)	A:0	tolerated(0.33)	0,1	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,missense_variant,p.Val208Phe,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	622	47	82	SUCCESS
OR8J3	81168	.	GRCh37	11	55904587	55904587	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751097194	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	51	0	ENST00000301529.1:c.608C>A	p.Ala203Glu	p.A203E	ENST00000301529	NM_001004064.1	203	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS31520.1	608	RADIA|MUTECT|MUSE	.	TTGCTGCAGAT	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000301529	.	1/1	.	.	.	.	.	.	.	.	rs751097194	1/1	PASS	ENST00000301529	Transcript	.	.	ENSG00000167822	15312	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.911)	.	deleterious(0.01)	.	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,missense_variant,p.Ala203Glu,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	608	51	72	SUCCESS
OR8K1	390157	.	GRCh37	11	56113774	56113774	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	51	136	0	ENST00000279783.2:c.260T>A	p.Met87Lys	p.M87K	ENST00000279783	NM_001002907.1	87	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS31528.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATGTTAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.308)	.	deleterious_low_confidence(0)	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,missense_variant,p.Met87Lys,ENST00000279783,;	354	136	140	SUCCESS
TCN1	6947	.	GRCh37	11	59623413	59623413	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781533374	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	63	187	1	ENST00000257264.3:c.866A>T	p.Gln289Leu	p.Q289L	ENST00000257264	NM_001062.3	289	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS7978.1	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGGGCT	NONE	.	.	hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF01122	.	.	ENSP00000257264	.	6/9	.	.	.	.	.	.	.	.	rs781533374	6/9	PASS	ENST00000257264	Transcript	.	.	ENSG00000134827	11652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TCO1_HUMAN	TCN1	HGNC	.	.	UPI000013CF55	SNV	TCN1,missense_variant,p.Gln289Leu,ENST00000257264,;TCN1,intron_variant,,ENST00000532419,;TCN1,downstream_gene_variant,,ENST00000533734,;TCN1,downstream_gene_variant,,ENST00000534531,;TCN1,upstream_gene_variant,,ENST00000529251,;	971	188	246	SUCCESS
RAB3IL1	5866	.	GRCh37	11	61675695	61675695	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	13	42	0	ENST00000394836.2:c.95A>G	p.His32Arg	p.H32R	ENST00000394836	NM_013401.3	32	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS8014.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGTGGCCT	NONE	.	.	hmmpanther:PTHR14430:SF1,hmmpanther:PTHR14430	.	.	ENSP00000378313	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000394836	Transcript	.	.	ENSG00000167994	9780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.7)	.	R3GEF_HUMAN	RAB3IL1	HGNC	.	.	UPI000007260E	SNV	RAB3IL1,missense_variant,p.His79Arg,ENST00000531922,;RAB3IL1,missense_variant,p.His79Arg,ENST00000301773,;RAB3IL1,missense_variant,p.His32Arg,ENST00000394836,;RAB3IL1,upstream_gene_variant,,ENST00000530888,;	253	42	18	SUCCESS
NXF1	10482	.	GRCh37	11	62572911	62572911	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	29	72	0	ENST00000294172.2:c.-83C>G		p.*28*	ENST00000294172	NM_006362.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8037.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAAGTGTCC	NONE	.	.	.	.	.	ENSP00000436679	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000532297	Transcript	.	.	ENSG00000162231	8071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXF1_HUMAN	NXF1	HGNC	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN	.	UPI00000012B9	SNV	NXF1,5_prime_UTR_variant,,ENST00000532297,;NXF1,5_prime_UTR_variant,,ENST00000530875,;NXF1,5_prime_UTR_variant,,ENST00000294172,;NXF1,5_prime_UTR_variant,,ENST00000531131,;NXF1,5_prime_UTR_variant,,ENST00000531709,;NXF1,upstream_gene_variant,,ENST00000531474,;NXF1,upstream_gene_variant,,ENST00000533671,;STX5,downstream_gene_variant,,ENST00000394690,;NXF1,upstream_gene_variant,,ENST00000439713,;STX5,downstream_gene_variant,,ENST00000541317,;STX5,downstream_gene_variant,,ENST00000294179,;STX5,downstream_gene_variant,,ENST00000377897,;RP11-727F15.13,downstream_gene_variant,,ENST00000596971,;NXF1,non_coding_transcript_exon_variant,,ENST00000531579,;NXF1,non_coding_transcript_exon_variant,,ENST00000526163,;NXF1,5_prime_UTR_variant,,ENST00000525576,;NXF1,non_coding_transcript_exon_variant,,ENST00000527064,;STX5,downstream_gene_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000491231,;	548	72	33	SUCCESS
CNGA4	1262	.	GRCh37	11	6262882	6262882	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs892620380	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	121	1	ENST00000379936.2:c.1139A>T	p.Asp380Val	p.D380V	ENST00000379936	NM_001037329.3	380	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31408.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGACATTG	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217,PROSITE_patterns:PS00888,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206	.	.	ENSP00000369268	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000379936	Transcript	.	.	ENSG00000132259	2152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,missense_variant,p.Asp380Val,ENST00000379936,;CNGA4,missense_variant,p.Asp149Val,ENST00000533426,;	1254	122	85	SUCCESS
SLC22A24	283238	.	GRCh37	11	62886696	62886696	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	72	192	0	ENST00000326192.5:c.618A>T	p.Ala206=	p.A206=	ENST00000326192		206	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	.	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTGCCAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000396586	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000417740	Transcript	.	.	ENSG00000197658	28542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC22A24	HGNC	C9JC66_HUMAN	.	UPI00016625C6	SNV	SLC22A24,synonymous_variant,p.%3D,ENST00000326192,;SLC22A24,synonymous_variant,p.%3D,ENST00000417740,;RPL29P22,upstream_gene_variant,,ENST00000498718,;	1060	192	197	SUCCESS
CCKBR	887	.	GRCh37	11	6292239	6292239	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	23	44	0	ENST00000334619.2:c.812-2A>G		p.X271_splice	ENST00000334619	NM_176875.3	271		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7761.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCAGGGGC	NONE	.	.	.	.	.	ENSP00000335544	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334619	Transcript	.	.	ENSG00000110148	1571	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GASR_HUMAN	CCKBR	HGNC	.	.	UPI0000000C18	SNV	CCKBR,splice_acceptor_variant,,ENST00000532715,;CCKBR,splice_acceptor_variant,,ENST00000334619,;CCKBR,synonymous_variant,p.%3D,ENST00000525462,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,splice_acceptor_variant,,ENST00000532396,;	.	44	38	SUCCESS
PYGM	5837	.	GRCh37	11	64527129	64527129	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs771895781	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	19	49	0	ENST00000164139.3:c.242A>G	p.Lys81Arg	p.K81R	ENST00000164139	NM_005609.2	81	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS8079.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTTGGGG	NONE	byFrequency	.	Superfamily_domains:SSF53756,PIRSF_domain:PIRSF000460,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,hmmpanther:PTHR11468:SF1,hmmpanther:PTHR11468	.	.	ENSP00000164139	.	1/20	.	.	.	.	.	.	.	.	rs771895781	1/20	PASS	ENST00000164139	Transcript	.	.	ENSG00000068976	9726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.657)	.	tolerated(0.06)	.	PYGM_HUMAN	PYGM	HGNC	.	.	UPI000013C5AC	SNV	PYGM,missense_variant,p.Lys81Arg,ENST00000164139,;PYGM,missense_variant,p.Lys81Arg,ENST00000377432,;SF1,downstream_gene_variant,,ENST00000377394,;SF1,downstream_gene_variant,,ENST00000227503,;SF1,downstream_gene_variant,,ENST00000377390,;SF1,downstream_gene_variant,,ENST00000377387,;SF1,downstream_gene_variant,,ENST00000334944,;SF1,downstream_gene_variant,,ENST00000448404,;	641	49	25	SUCCESS
MEN1	4221	.	GRCh37	11	64575092	64575092	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	29	87	0	ENST00000337652.1:c.730A>G	p.Met244Val	p.M244V	ENST00000337652	NM_130803.2	244	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8083.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATGAACG	NONE	.	.	hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3,Pfam_domain:PF05053	.	.	ENSP00000337088	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000337652	Transcript	.	.	ENSG00000133895	7010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	deleterious(0.03)	.	MEN1_HUMAN	MEN1	HGNC	Q9GZQ5_HUMAN	.	UPI0000246DC0	SNV	MEN1,missense_variant,p.Met244Val,ENST00000443283,;MEN1,missense_variant,p.Met244Val,ENST00000394374,;MEN1,missense_variant,p.Met239Val,ENST00000440873,;MEN1,missense_variant,p.Met239Val,ENST00000377326,;MEN1,missense_variant,p.Met244Val,ENST00000394376,;MEN1,missense_variant,p.Met239Val,ENST00000377316,;MEN1,missense_variant,p.Met239Val,ENST00000413626,;MEN1,missense_variant,p.Met239Val,ENST00000315422,;MEN1,missense_variant,p.Met239Val,ENST00000312049,;MEN1,missense_variant,p.Met239Val,ENST00000450708,;MEN1,missense_variant,p.Met204Val,ENST00000377321,;MEN1,missense_variant,p.Met244Val,ENST00000377313,;MEN1,missense_variant,p.Met244Val,ENST00000337652,;MAP4K2,upstream_gene_variant,,ENST00000377350,;MEN1,downstream_gene_variant,,ENST00000424912,;MEN1,downstream_gene_variant,,ENST00000429702,;MAP4K2,upstream_gene_variant,,ENST00000439069,;MAP4K2,upstream_gene_variant,,ENST00000294066,;MEN1,upstream_gene_variant,,ENST00000478548,;MEN1,upstream_gene_variant,,ENST00000487019,;MAP4K2,upstream_gene_variant,,ENST00000468062,;MAP4K2,upstream_gene_variant,,ENST00000482314,;MAP4K2,upstream_gene_variant,,ENST00000444560,;MAP4K2,upstream_gene_variant,,ENST00000435926,;MAP4K2,upstream_gene_variant,,ENST00000433890,;	1234	87	39	SUCCESS
KLC2	64837	.	GRCh37	11	66029592	66029592	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	104	0	ENST00000316924.5:c.460-2A>T		p.X154_splice	ENST00000316924	NM_022822.2	154		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCAGGAGG	NONE	.	.	.	.	.	ENSP00000399403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000417856	Transcript	.	.	ENSG00000174996	20716	.	.	HIGH	3/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC2_HUMAN	KLC2	HGNC	E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN	.	UPI0000001645	SNV	KLC2,splice_acceptor_variant,,ENST00000417856,;KLC2,splice_acceptor_variant,,ENST00000394078,;KLC2,splice_acceptor_variant,,ENST00000394066,;KLC2,splice_acceptor_variant,,ENST00000421552,;KLC2,splice_acceptor_variant,,ENST00000394065,;KLC2,splice_acceptor_variant,,ENST00000394067,;KLC2,splice_acceptor_variant,,ENST00000461611,;KLC2,splice_acceptor_variant,,ENST00000316924,;KLC2,splice_acceptor_variant,,ENST00000440228,;KLC2,splice_acceptor_variant,,ENST00000475757,;KLC2,downstream_gene_variant,,ENST00000531240,;KLC2,downstream_gene_variant,,ENST00000526758,;RP11-755F10.3,upstream_gene_variant,,ENST00000533576,;RP11-867G23.1,downstream_gene_variant,,ENST00000530805,;KLC2,splice_acceptor_variant,,ENST00000483152,;KLC2,splice_acceptor_variant,,ENST00000534023,;	.	104	100	SUCCESS
ADRBK1	0	.	GRCh37	11	67047308	67047308	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	74	88	0	ENST00000308595.5:c.442-2A>T		p.X148_splice	ENST00000308595	NM_001619.3	148		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8156.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTAGCCAT	NONE	.	.	.	.	.	ENSP00000312262	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308595	Transcript	.	.	ENSG00000173020	289	.	.	HIGH	5/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARBK1_HUMAN	ADRBK1	HGNC	.	.	UPI0000001C68	SNV	ADRBK1,splice_acceptor_variant,,ENST00000526285,;ADRBK1,splice_acceptor_variant,,ENST00000308595,;ADRBK1,splice_acceptor_variant,,ENST00000529738,;ADRBK1,upstream_gene_variant,,ENST00000532611,;ADRBK1,upstream_gene_variant,,ENST00000527176,;ADRBK1,upstream_gene_variant,,ENST00000534651,;ADRBK1,upstream_gene_variant,,ENST00000524899,;ADRBK1,downstream_gene_variant,,ENST00000530291,;ADRBK1,upstream_gene_variant,,ENST00000532099,;ADRBK1,upstream_gene_variant,,ENST00000531390,;ADRBK1,splice_acceptor_variant,,ENST00000416281,;ADRBK1,upstream_gene_variant,,ENST00000526572,;ADRBK1,upstream_gene_variant,,ENST00000533077,;ADRBK1,upstream_gene_variant,,ENST00000529815,;	.	88	159	SUCCESS
CABP4	57010	.	GRCh37	11	67223820	67223820	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	5	67	0	ENST00000325656.5:c.448A>T	p.Ser150Cys	p.S150C	ENST00000325656	NM_145200.3	150	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8166.1	448	MUTECT|MUSE	.	ACATCAGCCAC	NONE	.	.	Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF00036,PROSITE_patterns:PS00018,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF129,PROSITE_profiles:PS50222	.	.	ENSP00000324960	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000325656	Transcript	.	.	ENSG00000175544	1386	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.581)	.	deleterious(0)	.	CABP4_HUMAN	CABP4	HGNC	.	.	UPI0000126D68	SNV	CABP4,missense_variant,p.Ser150Cys,ENST00000325656,;CABP4,missense_variant,p.Ser45Cys,ENST00000438189,;GPR152,upstream_gene_variant,,ENST00000312457,;CTC-1337H24.1,upstream_gene_variant,,ENST00000602912,;CABP4,downstream_gene_variant,,ENST00000542233,;CABP4,downstream_gene_variant,,ENST00000542025,;CABP4,downstream_gene_variant,,ENST00000538060,;CABP4,3_prime_UTR_variant,,ENST00000545777,;CABP4,downstream_gene_variant,,ENST00000545040,;	525	67	132	SUCCESS
CDK2AP2	10263	.	GRCh37	11	67274928	67274928	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	95	136	1	ENST00000301488.3:c.221A>G	p.Tyr74Cys	p.Y74C	ENST00000301488	NM_005851.4	74	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS8169.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGTAGGTG	NONE	.	.	hmmpanther:PTHR22607:SF1,hmmpanther:PTHR22607,Pfam_domain:PF09806,PIRSF_domain:PIRSF037709	.	.	ENSP00000301488	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000301488	Transcript	.	.	ENSG00000167797	30833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CDKA2_HUMAN	CDK2AP2	HGNC	Q6IAV4_HUMAN	.	UPI00001296A5	SNV	CDK2AP2,missense_variant,p.Tyr74Cys,ENST00000531506,;CDK2AP2,missense_variant,p.Tyr74Cys,ENST00000301488,;PITPNM1,upstream_gene_variant,,ENST00000436757,;PITPNM1,upstream_gene_variant,,ENST00000532703,;PITPNM1,upstream_gene_variant,,ENST00000356404,;PITPNM1,upstream_gene_variant,,ENST00000534749,;PITPNM1,upstream_gene_variant,,ENST00000533391,;PITPNM1,upstream_gene_variant,,ENST00000528559,;PITPNM1,upstream_gene_variant,,ENST00000524901,;PITPNM1,upstream_gene_variant,,ENST00000527527,;PITPNM1,upstream_gene_variant,,ENST00000527103,;PITPNM1,upstream_gene_variant,,ENST00000529203,;CDK2AP2,3_prime_UTR_variant,,ENST00000531178,;CDK2AP2,non_coding_transcript_exon_variant,,ENST00000525402,;CDK2AP2,non_coding_transcript_exon_variant,,ENST00000526447,;	770	137	203	SUCCESS
OR2AG1	144125	.	GRCh37	11	6806883	6806883	+	synonymous_variant	Silent	SNP	C	C	T	rs758777510	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	78	0	ENST00000307401.4:c.615C>T	p.Thr205=	p.T205=	ENST00000307401	NM_001004489.2	205	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31414.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCTTCCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183,PROSITE_profiles:PS50262	.	.	ENSP00000307447	.	1/1	.	.	.	.	.	.	.	.	rs758777510	1/1	PASS	ENST00000307401	Transcript	.	.	ENSG00000170803	15142	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O2AG1_HUMAN	OR2AG1	HGNC	.	.	UPI00000015AF	SNV	OR2AG1,synonymous_variant,p.%3D,ENST00000307401,;	636	78	97	SUCCESS
OR10A5	144124	.	GRCh37	11	6867208	6867208	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	84	204	0	ENST00000299454.4:c.295G>T	p.Ala99Ser	p.A99S	ENST00000299454		99	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS7773.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGCCACT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF90,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000299454	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299454	Transcript	.	.	ENSG00000166363	15131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	deleterious(0.01)	.	O10A5_HUMAN	OR10A5	HGNC	.	.	UPI000004C155	SNV	OR10A5,missense_variant,p.Ala103Ser,ENST00000379831,;OR10A5,missense_variant,p.Ala99Ser,ENST00000299454,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	326	204	198	SUCCESS
P2RY6	5031	.	GRCh37	11	73007940	73007940	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	23	0	ENST00000349767.2:c.377T>A	p.Leu126Gln	p.L126Q	ENST00000349767	NM_176796.2	126	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8220.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTGGGCA	NONE	.	.	Prints_domain:PR01157,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF16,PROSITE_profiles:PS50262	.	.	ENSP00000377215	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000393590	Transcript	.	.	ENSG00000171631	8543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	P2RY6_HUMAN	P2RY6	HGNC	F5GYF3_HUMAN,F5GX90_HUMAN	.	UPI000005041C	SNV	P2RY6,missense_variant,p.Leu126Gln,ENST00000538328,;P2RY6,missense_variant,p.Leu126Gln,ENST00000540342,;P2RY6,missense_variant,p.Leu126Gln,ENST00000349767,;P2RY6,missense_variant,p.Leu126Gln,ENST00000540124,;P2RY6,missense_variant,p.Leu126Gln,ENST00000542092,;P2RY6,missense_variant,p.Leu126Gln,ENST00000544437,;P2RY6,missense_variant,p.Leu126Gln,ENST00000393592,;P2RY6,missense_variant,p.Leu126Gln,ENST00000535931,;P2RY6,missense_variant,p.Leu126Gln,ENST00000393591,;P2RY6,missense_variant,p.Leu126Gln,ENST00000393590,;P2RY6,intron_variant,,ENST00000536225,;	676	23	36	SUCCESS
PRKRIR	0	.	GRCh37	11	76063253	76063253	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	116	332	0	ENST00000260045.3:c.941T>A	p.Ile314Lys	p.I314K	ENST00000260045	NM_004705.2	314	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS8243.1	941	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTATCATA	NONE	.	.	hmmpanther:PTHR11697:SF10,hmmpanther:PTHR11697,Pfam_domain:PF14291,Superfamily_domains:SSF53098	.	.	ENSP00000260045	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000260045	Transcript	.	.	ENSG00000137492	9440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.02)	.	P52K_HUMAN	PRKRIR	HGNC	B4DS64_HUMAN	.	UPI0000131030	SNV	PRKRIR,missense_variant,p.Ile314Lys,ENST00000260045,;PRKRIR,downstream_gene_variant,,ENST00000531878,;PRKRIR,non_coding_transcript_exon_variant,,ENST00000529901,;PRKRIR,downstream_gene_variant,,ENST00000528993,;PRKRIR,downstream_gene_variant,,ENST00000525277,;	1047	332	310	SUCCESS
THRSP	7069	.	GRCh37	11	77775013	77775013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	57	0	ENST00000281030.2:c.86A>G	p.Gln29Arg	p.Q29R	ENST00000281030	NM_003251.3	29	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS8256.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCAGGTGG	NONE	.	.	hmmpanther:PTHR14315:SF13,hmmpanther:PTHR14315,Pfam_domain:PF07084	.	.	ENSP00000281030	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000281030	Transcript	.	.	ENSG00000151365	11800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	THRSP_HUMAN	THRSP	HGNC	.	.	UPI00000015FF	SNV	THRSP,missense_variant,p.Gln29Arg,ENST00000281030,;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2-KCTD14,intron_variant,,ENST00000530054,;NDUFC2,downstream_gene_variant,,ENST00000281031,;NDUFC2,downstream_gene_variant,,ENST00000527806,;	107	57	63	SUCCESS
NLRP10	338322	.	GRCh37	11	7981937	7981937	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	54	0	ENST00000328600.2:c.1222A>T	p.Arg408Trp	p.R408W	ENST00000328600	NM_176821.3	408	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7784.1	1222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTGTGCC	NONE	.	.	hmmpanther:PTHR24106:SF103,hmmpanther:PTHR24106	.	.	ENSP00000327763	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328600	Transcript	.	.	ENSG00000182261	21464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0.01)	.	NAL10_HUMAN	NLRP10	HGNC	E9PPY0_HUMAN	.	UPI0000167F6C	SNV	NLRP10,missense_variant,p.Arg408Trp,ENST00000328600,;NLRP10,downstream_gene_variant,,ENST00000526590,;	1384	54	53	SUCCESS
DLG2	1740	.	GRCh37	11	84634312	84634312	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	14	0	ENST00000398309.2:c.-150T>A		p.*50*	ENST00000398309	NM_001364.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44690.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAAACGAC	NONE	.	.	.	.	.	ENSP00000365272	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	MODIFIER	6/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,5_prime_UTR_variant,,ENST00000532653,;DLG2,5_prime_UTR_variant,,ENST00000398309,;DLG2,intron_variant,,ENST00000527088,;DLG2,intron_variant,,ENST00000543673,;DLG2,intron_variant,,ENST00000376104,;DLG2,upstream_gene_variant,,ENST00000524982,;DLG2,upstream_gene_variant,,ENST00000530589,;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;	.	14	22	SUCCESS
CCDC83	220047	.	GRCh37	11	85622367	85622411	+	inframe_deletion	In_Frame_Del	DEL	TTCATGAACTGGAAGCAGAAAATTTGGTGCTTATTGATCAACTAT	TTCATGAACTGGAAGCAGAAAATTTGGTGCTTATTGATCAACTAT	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	TTCATGAACTGGAAGCAGAAAATTTGGTGCTTATTGATCAACTAT	TTCATGAACTGGAAGCAGAAAATTTGGTGCTTATTGATCAACTAT	.	.	.	.	.	.	.	.	.	.	.	.	.	116	41	221	0	ENST00000342404.3:c.716_760del	p.Ile239_Ser254delinsThr	p.I239_S254delinsT	ENST00000342404	NM_001286159.1	239	aTTCATGAACTGGAAGCAGAAAATTTGGTGCTTATTGATCAACTATcc/acc	0	.	.	.	.	.	-	IHELEAENLVLIDQLS/T	protein_coding	YES	CCDS8271.1	716-760	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCTATTCATGAACTGGAAGCAGAAAATTTGGTGCTTATTGATCAACTATCCAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21468,hmmpanther:PTHR21468:SF1	.	.	ENSP00000280245	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000280245	Transcript	.	.	ENSG00000150676	28535	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD83_HUMAN	CCDC83	HGNC	.	.	UPI00001C098D	deletion	CCDC83,inframe_deletion,p.Ile140_Ser155delinsThr,ENST00000376067,;CCDC83,inframe_deletion,p.Ile145_Ser160delinsThr,ENST00000526729,;CCDC83,inframe_deletion,p.Ile239_Ser254delinsThr,ENST00000280245,;CCDC83,inframe_deletion,p.Ile239_Ser254delinsThr,ENST00000342404,;CCDC83,non_coding_transcript_exon_variant,,ENST00000529676,;	1228-1272	221	157	SUCCESS
GRM5	2915	.	GRCh37	11	88338049	88338049	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	49	135	0	ENST00000305447.4:c.1231C>A	p.Leu411Ile	p.L411I	ENST00000305447	NM_001143831.2	411	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS44694.1	1231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGCCCAT	NONE	.	.	hmmpanther:PTHR24060:SF30,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000402912	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,missense_variant,p.Leu411Ile,ENST00000305447,;GRM5,missense_variant,p.Leu411Ile,ENST00000393297,;GRM5,missense_variant,p.Leu411Ile,ENST00000305432,;GRM5,missense_variant,p.Leu411Ile,ENST00000418177,;GRM5,missense_variant,p.Leu411Ile,ENST00000455756,;	1599	135	111	SUCCESS
TYR	7299	.	GRCh37	11	88911129	88911129	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs375229194	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	95	0	ENST00000263321.5:c.8T>A	p.Leu3Gln	p.L3Q	ENST00000263321	NM_000372.4	3	cTg/cAg	0	C:0	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8284.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGCTG	NONE	byCluster	.	Cleavage_site_(Signalp):SignalP-noTM	.	C:0.0001	ENSP00000263321	.	1/5	.	.	.	.	.	.	.	.	rs375229194	1/5	PASS	ENST00000263321	Transcript	.	.	ENSG00000077498	12442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	deleterious(0.01)	.	TYRO_HUMAN	TYR	HGNC	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN	.	UPI000004441A	SNV	TYR,missense_variant,p.Leu3Gln,ENST00000263321,;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;	510	95	53	SUCCESS
FAT3	120114	.	GRCh37	11	92498202	92498202	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	44	133	0	ENST00000298047.6:c.4142T>C	p.Val1381Ala	p.V1381A	ENST00000298047		1381	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	4142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTAGGGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.685)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Val1381Ala,ENST00000298047,;FAT3,missense_variant,p.Val1381Ala,ENST00000409404,;FAT3,missense_variant,p.Val1231Ala,ENST00000525166,;RP11-203F8.1,intron_variant,,ENST00000529884,;	4159	133	110	SUCCESS
ZNF143	7702	.	GRCh37	11	9499989	9499989	+	synonymous_variant	Silent	SNP	A	A	T	rs757272466	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	91	0	ENST00000396602.2:c.426A>T	p.Thr142=	p.T142=	ENST00000396602	NM_003442.5	142	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7799.2	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACAGCTTA	NONE	.	.	hmmpanther:PTHR11389:SF362,hmmpanther:PTHR11389	.	.	ENSP00000379847	.	6/16	.	.	.	.	.	.	.	.	rs757272466	6/16	PASS	ENST00000396602	Transcript	.	.	ENSG00000166478	12928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN143_HUMAN	ZNF143	HGNC	E9PPB0_HUMAN,E9PJF2_HUMAN,C9JTC5_HUMAN,C9JCG1_HUMAN,C9J2G7_HUMAN	.	UPI00001F9D01	SNV	ZNF143,missense_variant,p.Gln141Leu,ENST00000526657,;ZNF143,synonymous_variant,p.%3D,ENST00000533542,;ZNF143,synonymous_variant,p.%3D,ENST00000396597,;ZNF143,synonymous_variant,p.%3D,ENST00000534265,;ZNF143,synonymous_variant,p.%3D,ENST00000438144,;ZNF143,synonymous_variant,p.%3D,ENST00000396602,;ZNF143,synonymous_variant,p.%3D,ENST00000396604,;ZNF143,synonymous_variant,p.%3D,ENST00000412390,;ZNF143,synonymous_variant,p.%3D,ENST00000532577,;ZNF143,synonymous_variant,p.%3D,ENST00000530463,;ZNF143,synonymous_variant,p.%3D,ENST00000299606,;ZNF143,downstream_gene_variant,,ENST00000531943,;ZNF143,downstream_gene_variant,,ENST00000417726,;ZNF143,downstream_gene_variant,,ENST00000414370,;ZNF143,downstream_gene_variant,,ENST00000496276,;	545	91	69	SUCCESS
CLEC1B	51266	.	GRCh37	12	10147839	10147839	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	51	0	ENST00000298527.6:c.445A>T	p.Ile149Phe	p.I149F	ENST00000298527	NM_016509.3	149	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS41752.1	445	RADIA|MUTECT|MUSE	.	TTTGATGTACT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF9,hmmpanther:PTHR22800,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000298527	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000298527	Transcript	.	.	ENSG00000165682	24356	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.218)	.	tolerated(0.07)	.	CLC1B_HUMAN	CLEC1B	HGNC	.	.	UPI000013E4EA	SNV	CLEC1B,missense_variant,p.Ile116Phe,ENST00000348658,;CLEC1B,missense_variant,p.Ile149Phe,ENST00000298527,;CLEC1B,missense_variant,p.Ile116Phe,ENST00000428126,;CLEC1B,missense_variant,p.Ile56Phe,ENST00000398937,;CLEC12A,non_coding_transcript_exon_variant,,ENST00000449959,;	625	51	37	SUCCESS
STAB2	55576	.	GRCh37	12	104025439	104025439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	76	176	1	ENST00000388887.2:c.551A>G	p.Tyr184Cys	p.Y184C	ENST00000388887	NM_017564.9	184	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31888.1	551	RADIA|VARSCANS	.	GTGCTACTCTG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00286,SMART_domains:SM00180	.	.	ENSP00000373539	.	6/69	.	.	.	.	.	.	.	.	.	6/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.789)	.	deleterious(0.01)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Tyr184Cys,ENST00000388887,;	755	177	174	SUCCESS
BTBD11	121551	.	GRCh37	12	108008836	108008836	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	138	0	ENST00000280758.5:c.1900-2A>C		p.X634_splice	ENST00000280758	NM_001018072.1	634		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31893.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATAGGTTG	NONE	.	.	.	.	.	ENSP00000280758	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	HIGH	6/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,splice_acceptor_variant,,ENST00000490090,;BTBD11,splice_acceptor_variant,,ENST00000280758,;BTBD11,splice_acceptor_variant,,ENST00000420571,;BTBD11,splice_acceptor_variant,,ENST00000357167,;BTBD11,downstream_gene_variant,,ENST00000415943,;BTBD11,downstream_gene_variant,,ENST00000550706,;RP11-128P10.1,intron_variant,,ENST00000548473,;	.	138	103	SUCCESS
GIT2	9815	.	GRCh37	12	110421240	110421240	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	64	157	1	ENST00000355312.3:c.561A>G	p.Ala187=	p.A187=	ENST00000355312	NM_057169.3	187	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9138.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACTGCCAA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF215,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000347464	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000355312	Transcript	.	.	ENSG00000139436	4273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GIT2_HUMAN	GIT2	HGNC	.	.	UPI000012B4C5	SNV	GIT2,synonymous_variant,p.%3D,ENST00000361006,;GIT2,synonymous_variant,p.%3D,ENST00000356259,;GIT2,synonymous_variant,p.%3D,ENST00000338373,;GIT2,synonymous_variant,p.%3D,ENST00000457474,;GIT2,synonymous_variant,p.%3D,ENST00000355312,;GIT2,synonymous_variant,p.%3D,ENST00000551209,;GIT2,synonymous_variant,p.%3D,ENST00000550186,;GIT2,synonymous_variant,p.%3D,ENST00000553118,;GIT2,synonymous_variant,p.%3D,ENST00000343646,;GIT2,synonymous_variant,p.%3D,ENST00000320063,;GIT2,synonymous_variant,p.%3D,ENST00000354574,;GIT2,synonymous_variant,p.%3D,ENST00000547815,;GIT2,synonymous_variant,p.%3D,ENST00000360185,;TCHP,intron_variant,,ENST00000550780,;GIT2,non_coding_transcript_exon_variant,,ENST00000548643,;GIT2,non_coding_transcript_exon_variant,,ENST00000551455,;GIT2,downstream_gene_variant,,ENST00000547267,;GIT2,upstream_gene_variant,,ENST00000551721,;	561	158	157	SUCCESS
IFT81	28981	.	GRCh37	12	110565247	110565247	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1248996456	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	76	230	0	ENST00000242591.5:c.62A>G	p.Tyr21Cys	p.Y21C	ENST00000242591	NM_014055.3	21	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS41831.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTATAATT	NONE	.	.	hmmpanther:PTHR15614:SF2,hmmpanther:PTHR15614	.	.	ENSP00000242591	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000242591	Transcript	.	.	ENSG00000122970	14313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	IFT81_HUMAN	IFT81	HGNC	.	.	UPI000000D78F	SNV	IFT81,missense_variant,p.Tyr21Cys,ENST00000242591,;IFT81,missense_variant,p.Tyr21Cys,ENST00000546374,;IFT81,missense_variant,p.Tyr21Cys,ENST00000361948,;IFT81,missense_variant,p.Tyr21Cys,ENST00000552912,;IFT81,upstream_gene_variant,,ENST00000550156,;	568	230	229	SUCCESS
HECTD4	283450	.	GRCh37	12	112688787	112688787	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	54	152	0	ENST00000550722.1:c.3266A>T	p.Lys1089Ile	p.K1089I	ENST00000550722	NM_001109662.3	1089	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	.	3266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTTGGAC	NONE	.	.	.	.	.	ENSP00000449784	.	24/76	.	.	.	.	.	.	.	.	.	24/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.464)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Lys813Ile,ENST00000430131,;HECTD4,missense_variant,p.Lys1089Ile,ENST00000550722,;HECTD4,missense_variant,p.Lys1063Ile,ENST00000377560,;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;	3662	152	118	SUCCESS
PRB2	653247	.	GRCh37	12	11546400	11546400	+	synonymous_variant	Silent	SNP	T	T	A	rs774657364	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	27	245	0	ENST00000389362.4:c.612A>T	p.Pro204=	p.P204=	ENST00000389362	NM_006248.3	204	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS41757.2	612	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGTGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	.	.	ENSP00000374013	.	3/4	.	.	.	.	.	.	.	.	rs774657364	3/4	PASS	ENST00000389362	Transcript	.	.	ENSG00000121335	9338	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRB2_HUMAN	PRB2	HGNC	.	.	UPI0000EE5993	SNV	PRB2,synonymous_variant,p.%3D,ENST00000389362,;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	648	245	189	SUCCESS
MED13L	23389	.	GRCh37	12	116446847	116446847	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	39	113	0	ENST00000281928.3:c.1371A>G	p.Ser457=	p.S457=	ENST00000281928	NM_015335.4	457	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9177.1	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	.	ENSP00000281928	.	10/31	.	.	.	.	.	.	.	.	.	10/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,synonymous_variant,p.%3D,ENST00000281928,;MED13L,non_coding_transcript_exon_variant,,ENST00000549755,;	1578	113	113	SUCCESS
NOS1	4842	.	GRCh37	12	117710243	117710243	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	120	1	ENST00000317775.6:c.1786A>G	p.Thr596Ala	p.T596A	ENST00000317775	NM_000620.4	596	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS55890.1	1786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTGCCCA	NONE	.	.	Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Gene3D:3.90.1230.10,Pfam_domain:PF02898,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Thr596Ala,ENST00000317775,;NOS1,missense_variant,p.Thr596Ala,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	1791	121	112	SUCCESS
SRRM4	84530	.	GRCh37	12	119554788	119554788	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1165077731	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	63	0	ENST00000267260.4:c.412A>T	p.Ser138Cys	p.S138C	ENST00000267260	NM_194286.3	138	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS44994.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGTTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000267260	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Ser138Cys,ENST00000267260,;RP11-364C11.2,upstream_gene_variant,,ENST00000537730,;SRRM4,non_coding_transcript_exon_variant,,ENST00000545224,;	800	63	54	SUCCESS
CIT	11113	.	GRCh37	12	120271925	120271925	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	138	0	ENST00000261833.7:c.624T>A	p.Ala208=	p.A208=	ENST00000261833	NM_007174.2	208	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55891.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAGCCAA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF038145,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PROSITE_profiles:PS50011	.	.	ENSP00000376306	.	6/48	.	.	.	.	.	.	.	.	.	6/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,synonymous_variant,p.%3D,ENST00000261833,;CIT,synonymous_variant,p.%3D,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;	680	138	112	SUCCESS
WDR66	0	.	GRCh37	12	122413230	122413230	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	49	189	0	ENST00000288912.4:c.2852A>G	p.Lys951Arg	p.K951R	ENST00000288912	NM_144668.5	951	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS41853.1	2852	RADIA|MUTECT|MUSE	.	AGGAAAATTCT	NONE	.	.	hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720	.	.	ENSP00000288912	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000288912	Transcript	.	.	ENSG00000158023	28506	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.08)	.	WDR66_HUMAN	WDR66	HGNC	.	.	UPI00001AEB2C	SNV	WDR66,missense_variant,p.Lys951Arg,ENST00000288912,;WDR66,downstream_gene_variant,,ENST00000397454,;	3706	189	144	SUCCESS
TMEM132B	114795	.	GRCh37	12	126138603	126138603	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	126	0	ENST00000299308.3:c.2584A>G	p.Lys862Glu	p.K862E	ENST00000299308	NM_052907.2	862	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41859.1	2584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCAAAAGT	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.71)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Lys374Glu,ENST00000535886,;TMEM132B,missense_variant,p.Lys862Glu,ENST00000299308,;	2592	126	87	SUCCESS
FZD10	11211	.	GRCh37	12	130648002	130648002	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	93	0	ENST00000229030.4:c.515A>C	p.Gln172Pro	p.Q172P	ENST00000229030		172	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS9267.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCAGCGGC	NONE	.	.	hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.38)	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,missense_variant,p.Gln172Pro,ENST00000229030,;FZD10,synonymous_variant,p.%3D,ENST00000539839,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	999	93	83	SUCCESS
GPR133	0	.	GRCh37	12	131456098	131456098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	65	0	ENST00000261654.5:c.283A>G	p.Ser95Gly	p.S95G	ENST00000261654	NM_198827.3	95	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS9272.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCAGCAAG	NONE	.	.	Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000261654	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000261654	Transcript	.	.	ENSG00000111452	19893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious_low_confidence(0)	.	GP133_HUMAN	GPR133	HGNC	F5H4Y0_HUMAN,B2CKK9_HUMAN	.	UPI0000241C7A	SNV	GPR133,missense_variant,p.Ser127Gly,ENST00000535015,;GPR133,missense_variant,p.Ser95Gly,ENST00000542091,;GPR133,missense_variant,p.Ser95Gly,ENST00000261654,;GPR133,downstream_gene_variant,,ENST00000543826,;GPR133,non_coding_transcript_exon_variant,,ENST00000541937,;GPR133,non_coding_transcript_exon_variant,,ENST00000541143,;	842	65	63	SUCCESS
GPR133	0	.	GRCh37	12	131590300	131590300	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs1374922535	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	16	0	ENST00000261654.5:c.1777T>A	p.Ser593Thr	p.S593T	ENST00000261654	NM_198827.3	593	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS9272.1	1777	MUTECT|MUSE	.	TCAGCTCCGTG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000261654	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000261654	Transcript	.	.	ENSG00000111452	19893	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	GP133_HUMAN	GPR133	HGNC	F5H4Y0_HUMAN,B2CKK9_HUMAN	.	UPI0000241C7A	SNV	GPR133,missense_variant,p.Ser112Thr,ENST00000543617,;GPR133,missense_variant,p.Ser279Thr,ENST00000376682,;GPR133,missense_variant,p.Ser625Thr,ENST00000535015,;GPR133,missense_variant,p.Ser593Thr,ENST00000261654,;GPR133,intron_variant,,ENST00000335486,;GPR133,splice_region_variant,,ENST00000536988,;GPR133,splice_region_variant,,ENST00000446583,;	2336	16	8	SUCCESS
ULK1	8408	.	GRCh37	12	132393332	132393332	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757096105	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	39	0	ENST00000321867.4:c.460G>T	p.Ala154Ser	p.A154S	ENST00000321867	NM_003565.2	154	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9274.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGCCAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24348:SF19,hmmpanther:PTHR24348,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000580,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000324560	.	6/28	.	.	.	.	.	.	.	.	rs757096105	6/28	PASS	ENST00000321867	Transcript	.	.	ENSG00000177169	12558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(1)	.	ULK1_HUMAN	ULK1	HGNC	F5H4E9_HUMAN,F5H1S7_HUMAN,F5GZQ0_HUMAN	.	UPI00001FB0D9	SNV	ULK1,missense_variant,p.Ala48Ser,ENST00000542313,;ULK1,missense_variant,p.Ala71Ser,ENST00000537421,;ULK1,missense_variant,p.Ala154Ser,ENST00000321867,;	811	39	33	SUCCESS
PUS1	80324	.	GRCh37	12	132423731	132423731	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	93	0	ENST00000376649.3:c.455C>A	p.Ala152Asp	p.A152D	ENST00000376649	NM_025215.5	152	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS9275.2	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGCCGGCC	NONE	.	.	hmmpanther:PTHR11142:SF4,hmmpanther:PTHR11142,Gene3D:1dj0A02,TIGRFAM_domain:TIGR00071,Pfam_domain:PF01416,Superfamily_domains:SSF55120	.	.	ENSP00000365837	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000376649	Transcript	.	.	ENSG00000177192	15508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TRUA_HUMAN	PUS1	HGNC	E5KMT6_HUMAN,E5KMT5_HUMAN,G8JLB3_HUMAN,F5GY32_HUMAN	.	UPI000006FC81	SNV	PUS1,missense_variant,p.Ala99Asp,ENST00000542167,;PUS1,missense_variant,p.Ala124Asp,ENST00000443358,;PUS1,missense_variant,p.Ala124Asp,ENST00000322060,;PUS1,missense_variant,p.Ala124Asp,ENST00000538037,;PUS1,missense_variant,p.Ala124Asp,ENST00000440818,;PUS1,missense_variant,p.Ala152Asp,ENST00000376649,;PUS1,intron_variant,,ENST00000537484,;PUS1,intron_variant,,ENST00000535067,;PUS1,upstream_gene_variant,,ENST00000543754,;	955	93	81	SUCCESS
PTPRO	5800	.	GRCh37	12	15699336	15699336	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	19	0	ENST00000281171.4:c.2165-167A>T		p.*722*	ENST00000281171	NM_030667.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8675.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTAGATAG	NONE	.	.	.	.	.	ENSP00000281171	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281171	Transcript	.	.	ENSG00000151490	9678	.	.	MODIFIER	12/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRO_HUMAN	PTPRO	HGNC	B4DS16_HUMAN	.	UPI000013DC62	SNV	PTPRO,5_prime_UTR_variant,,ENST00000544244,;PTPRO,5_prime_UTR_variant,,ENST00000445537,;PTPRO,5_prime_UTR_variant,,ENST00000542557,;PTPRO,5_prime_UTR_variant,,ENST00000442921,;PTPRO,intron_variant,,ENST00000348962,;PTPRO,intron_variant,,ENST00000281171,;PTPRO,upstream_gene_variant,,ENST00000535311,;	.	19	23	SUCCESS
CASC1	0	.	GRCh37	12	25267703	25267703	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	154	0	ENST00000395987.3:c.1498C>T	p.Gln500Ter	p.Q500*	ENST00000395987	NM_018272.3	500	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS31759.2	1498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTGAATCA	NONE	.	.	Prints_domain:PR02043,hmmpanther:PTHR20929	.	.	ENSP00000379310	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000395987	Transcript	.	.	ENSG00000118307	29599	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASC1	HGNC	G3V3G6_HUMAN,F8W8F9_HUMAN	.	UPI00001FB7A4	SNV	CASC1,stop_gained,p.Gln500Ter,ENST00000395987,;CASC1,stop_gained,p.Gln558Ter,ENST00000354189,;CASC1,stop_gained,p.Gln382Ter,ENST00000537577,;CASC1,stop_gained,p.Gln454Ter,ENST00000395990,;CASC1,stop_gained,p.Gln494Ter,ENST00000320267,;CASC1,stop_gained,p.Gln326Ter,ENST00000556006,;CASC1,stop_gained,p.Gln435Ter,ENST00000545133,;CASC1,non_coding_transcript_exon_variant,,ENST00000557684,;CASC1,non_coding_transcript_exon_variant,,ENST00000555554,;CASC1,3_prime_UTR_variant,,ENST00000554533,;	1564	154	107	SUCCESS
RASSF8	11228	.	GRCh37	12	26217535	26217535	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748139560	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	109	0	ENST00000282884.9:c.208G>T	p.Ala70Ser	p.A70S	ENST00000282884	NM_001164746.1	70	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS53765.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATGCTAGT	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR15286:SF9,hmmpanther:PTHR15286,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000384491	.	3/5	.	.	.	.	.	.	.	.	rs748139560	3/5	PASS	ENST00000405154	Transcript	.	.	ENSG00000123094	13232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.04)	.	RASF8_HUMAN	RASSF8	HGNC	H0YG85_HUMAN,F5H8C5_HUMAN,F5H8B9_HUMAN,F5H7J1_HUMAN,F5H343_HUMAN,F5H0S5_HUMAN,F5GYP8_HUMAN	.	UPI00001FB7C1	SNV	RASSF8,missense_variant,p.Ala70Ser,ENST00000542315,;RASSF8,missense_variant,p.Ala70Ser,ENST00000542004,;RASSF8,missense_variant,p.Ala70Ser,ENST00000541218,;RASSF8,missense_variant,p.Ala70Ser,ENST00000545413,;RASSF8,missense_variant,p.Ala70Ser,ENST00000282884,;RASSF8,missense_variant,p.Ala70Ser,ENST00000381352,;RASSF8,missense_variant,p.Ala70Ser,ENST00000542865,;RASSF8,missense_variant,p.Ala70Ser,ENST00000535907,;RASSF8,missense_variant,p.Ala70Ser,ENST00000405154,;RASSF8,missense_variant,p.Ala70Ser,ENST00000541490,;RASSF8,upstream_gene_variant,,ENST00000539545,;	407	109	93	SUCCESS
PPFIBP1	8496	.	GRCh37	12	27832961	27832961	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs763388632	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	37	82	0	ENST00000318304.8:c.1880T>A	p.Leu627Ter	p.L627*	ENST00000318304	NM_177444.2	627	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS55812.1	1880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGATTAGGTT	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16	.	.	ENSP00000314724	.	20/29	.	.	.	.	.	.	.	.	rs763388632	20/29	PASS	ENST00000318304	Transcript	.	.	ENSG00000110841	9249	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPB1_HUMAN	PPFIBP1	HGNC	F5H6Q7_HUMAN	.	UPI00004565E6	SNV	PPFIBP1,stop_gained,p.Leu596Ter,ENST00000542629,;PPFIBP1,stop_gained,p.Leu458Ter,ENST00000540114,;PPFIBP1,stop_gained,p.Leu474Ter,ENST00000537927,;PPFIBP1,stop_gained,p.Leu627Ter,ENST00000318304,;PPFIBP1,stop_gained,p.Leu621Ter,ENST00000228425,;PPFIBP1,upstream_gene_variant,,ENST00000539326,;PPFIBP1,downstream_gene_variant,,ENST00000537261,;PPFIBP1,non_coding_transcript_exon_variant,,ENST00000540503,;	2163	82	71	SUCCESS
KIAA1551	0	.	GRCh37	12	32137297	32137297	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	93	0	ENST00000312561.4:c.3408A>G	p.Lys1136=	p.K1136=	ENST00000312561	NM_018169.3	1136	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS8725.2	3408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAAGAAGA	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,synonymous_variant,p.%3D,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	3822	93	86	SUCCESS
BICD1	636	.	GRCh37	12	32369200	32369200	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	50	151	0	ENST00000281474.5:c.233C>G	p.Ser78Cys	p.S78C	ENST00000281474	NM_001714.2	78	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS8726.1	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCCATCC	NONE	.	.	Pfam_domain:PF09730,hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233	.	.	ENSP00000281474	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000281474	Transcript	.	.	ENSG00000151746	1049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	BICD1_HUMAN	BICD1	HGNC	.	.	UPI00001AEA67	SNV	BICD1,missense_variant,p.Ser78Cys,ENST00000281474,;BICD1,missense_variant,p.Ser78Cys,ENST00000548411,;BICD1,missense_variant,p.Ser78Cys,ENST00000395758,;	336	151	137	SUCCESS
BICD1	636	.	GRCh37	12	32490444	32490444	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	45	123	0	ENST00000281474.5:c.2264A>G	p.Tyr755Cys	p.Y755C	ENST00000281474	NM_001714.2	755	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8726.1	2264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATATGTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09730,hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233	.	.	ENSP00000281474	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000281474	Transcript	.	.	ENSG00000151746	1049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BICD1_HUMAN	BICD1	HGNC	.	.	UPI00001AEA67	SNV	BICD1,missense_variant,p.Tyr755Cys,ENST00000281474,;BICD1,missense_variant,p.Tyr755Cys,ENST00000548411,;BICD1,downstream_gene_variant,,ENST00000547680,;BICD1,missense_variant,p.Tyr755Cys,ENST00000395758,;BICD1,non_coding_transcript_exon_variant,,ENST00000552226,;BICD1,non_coding_transcript_exon_variant,,ENST00000552160,;	2367	123	106	SUCCESS
LRRK2	120892	.	GRCh37	12	40760830	40760830	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	131	393	1	ENST00000298910.7:c.7413G>A	p.Leu2471=	p.L2471=	ENST00000298910	NM_198578.3	2471	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31774.1	7413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGGTATT	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000298910	.	50/51	.	.	.	.	.	.	.	.	.	50/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,synonymous_variant,p.%3D,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	7471	394	336	SUCCESS
DBX2	440097	.	GRCh37	12	45444721	45444721	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	20	0	ENST00000332700.6:c.-11G>A		p.*4*	ENST00000332700	NM_001004329.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31781.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCCAACCG	NONE	.	.	.	.	.	ENSP00000331470	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000332700	Transcript	.	.	ENSG00000185610	33186	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DBX2_HUMAN	DBX2	HGNC	.	.	UPI000041A784	SNV	DBX2,5_prime_UTR_variant,,ENST00000332700,;RP11-478B9.1,non_coding_transcript_exon_variant,,ENST00000548424,;	162	20	37	SUCCESS
KMT2D	8085	.	GRCh37	12	49432023	49432023	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	56	134	0	ENST00000301067.7:c.9116A>G	p.Asp3039Gly	p.D3039G	ENST00000301067	NM_003482.3	3039	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS44873.1	9116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATCCAAG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	34/54	.	.	.	.	.	.	.	.	.	34/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Asp3039Gly,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000550356,;	9116	134	131	SUCCESS
FAM186A	121006	.	GRCh37	12	50749396	50749396	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	71	0	ENST00000327337.5:c.1219T>C	p.Tyr407His	p.Y407H	ENST00000327337	NM_001145475.1	407	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS44878.1	1219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATATGAAA	NONE	.	.	.	.	.	ENSP00000329995	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000327337	Transcript	.	.	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.534)	.	tolerated(0.35)	.	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Tyr407His,ENST00000327337,;FAM186A,missense_variant,p.Tyr407His,ENST00000543111,;FAM186A,upstream_gene_variant,,ENST00000543096,;	1219	71	66	SUCCESS
KRT121P	0	.	GRCh37	12	52649863	52649863	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	99	1	ENST00000257935.6:n.858C>A		p.*286*	ENST00000257935				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAGCTCTG	NONE	.	.	.	.	.	.	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000257935	Transcript	.	.	ENSG00000135477	30198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KRT121P	HGNC	.	.	.	SNV	KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;KRT121P,non_coding_transcript_exon_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000548657,;KRT121P,non_coding_transcript_exon_variant,,ENST00000257935,;KRT121P,non_coding_transcript_exon_variant,,ENST00000534226,;	858	100	76	SUCCESS
KRT5	3852	.	GRCh37	12	52913903	52913903	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	67	0	ENST00000252242.4:c.178T>A	p.Tyr60Asn	p.Y60N	ENST00000252242	NM_000424.3	60	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS8830.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATAGCCAC	NONE	.	.	.	.	.	ENSP00000252242	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000252242	Transcript	.	.	ENSG00000186081	6442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0)	.	K2C5_HUMAN	KRT5	HGNC	Q9UEK9_HUMAN,F8VV57_HUMAN,B4DL32_HUMAN	.	UPI000013CD4B	SNV	KRT5,missense_variant,p.Tyr60Asn,ENST00000252242,;KRT5,missense_variant,p.Tyr60Asn,ENST00000546577,;KRT5,splice_region_variant,,ENST00000551275,;KRT5,intron_variant,,ENST00000549420,;KRT5,upstream_gene_variant,,ENST00000548409,;KRT5,upstream_gene_variant,,ENST00000551188,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,upstream_gene_variant,,ENST00000547890,;KRT5,upstream_gene_variant,,ENST00000549511,;KRT5,upstream_gene_variant,,ENST00000551013,;KRT5,upstream_gene_variant,,ENST00000552952,;	569	67	60	SUCCESS
MAP3K12	7786	.	GRCh37	12	53878895	53878895	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	115	0	ENST00000267079.2:c.985C>T	p.Leu329=	p.L329=	ENST00000267079	NM_006301.3	329	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55831.1	1084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGATGGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF397,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF500741,SMART_domains:SM00220,PIRSF_domain:PIRSF038165,Superfamily_domains:SSF56112	.	.	ENSP00000448689	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000547035	Transcript	.	.	ENSG00000139625	6851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K12_HUMAN	MAP3K12	HGNC	H3BMF0_HUMAN	.	UPI00001407EE	SNV	MAP3K12,synonymous_variant,p.%3D,ENST00000547035,;MAP3K12,synonymous_variant,p.%3D,ENST00000267079,;MAP3K12,synonymous_variant,p.%3D,ENST00000547488,;PCBP2,downstream_gene_variant,,ENST00000455667,;PCBP2,downstream_gene_variant,,ENST00000547859,;PCBP2,downstream_gene_variant,,ENST00000437231,;PCBP2,downstream_gene_variant,,ENST00000447282,;MAP3K12,downstream_gene_variant,,ENST00000548565,;PCBP2,downstream_gene_variant,,ENST00000603815,;MAP3K12,downstream_gene_variant,,ENST00000547151,;MAP3K12,synonymous_variant,p.%3D,ENST00000552365,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547020,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000548690,;MAP3K12,upstream_gene_variant,,ENST00000551511,;MAP3K12,downstream_gene_variant,,ENST00000551895,;MAP3K12,downstream_gene_variant,,ENST00000547803,;	1289	115	112	SUCCESS
NABP2	79035	.	GRCh37	12	56619991	56619991	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	60	179	0	ENST00000267023.4:c.319A>G	p.Asn107Asp	p.N107D	ENST00000267023	NM_024068.3	107	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS8911.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAACTTC	NONE	.	.	hmmpanther:PTHR13356,hmmpanther:PTHR13356:SF3,Gene3D:2.40.50.140,Superfamily_domains:SSF50249	.	.	ENSP00000369545	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000380198	Transcript	.	.	ENSG00000139579	28412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.321)	.	deleterious(0)	.	SOSB1_HUMAN	NABP2	HGNC	C9JT95_HUMAN,C9JMP5_HUMAN	.	UPI000006DDFD	SNV	NABP2,missense_variant,p.Asn107Asp,ENST00000399713,;NABP2,missense_variant,p.Asn107Asp,ENST00000380198,;NABP2,missense_variant,p.Asn107Asp,ENST00000447747,;NABP2,missense_variant,p.Asn107Asp,ENST00000341463,;NABP2,missense_variant,p.Asn107Asp,ENST00000267023,;SLC39A5,upstream_gene_variant,,ENST00000424625,;SLC39A5,upstream_gene_variant,,ENST00000454355,;RNF41,upstream_gene_variant,,ENST00000394013,;SLC39A5,upstream_gene_variant,,ENST00000436633,;SLC39A5,upstream_gene_variant,,ENST00000266980,;RNF41,upstream_gene_variant,,ENST00000551711,;RNF41,upstream_gene_variant,,ENST00000549038,;RNF41,upstream_gene_variant,,ENST00000552244,;SLC39A5,upstream_gene_variant,,ENST00000417965,;SLC39A5,upstream_gene_variant,,ENST00000437277,;RNF41,upstream_gene_variant,,ENST00000345093,;RNF41,upstream_gene_variant,,ENST00000552656,;SLC39A5,upstream_gene_variant,,ENST00000419753,;NABP2,non_coding_transcript_exon_variant,,ENST00000479016,;RNF41,upstream_gene_variant,,ENST00000547967,;RNF41,upstream_gene_variant,,ENST00000548225,;SLC39A5,upstream_gene_variant,,ENST00000493574,;SLC39A5,upstream_gene_variant,,ENST00000481103,;	817	179	157	SUCCESS
ZBTB39	9880	.	GRCh37	12	57397645	57397645	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	119	0	ENST00000300101.2:c.1057G>C	p.Glu353Gln	p.E353Q	ENST00000300101	NM_014830.2	353	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS31839.1	1057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCTAGAA	NONE	.	.	hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF46	.	.	ENSP00000300101	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300101	Transcript	.	.	ENSG00000166860	29014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	tolerated(0.37)	.	ZBT39_HUMAN	ZBTB39	HGNC	.	.	UPI0000139682	SNV	ZBTB39,missense_variant,p.Glu353Gln,ENST00000300101,;	1143	119	107	SUCCESS
MARS	0	.	GRCh37	12	57881756	57881756	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	54	0	ENST00000262027.5:c.-118G>T		p.*40*	ENST00000262027	NM_004990.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8942.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTAGCGGTG	NONE	.	.	.	.	.	ENSP00000262027	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,5_prime_UTR_variant,,ENST00000262027,;ARHGAP9,intron_variant,,ENST00000550288,;ARHGAP9,intron_variant,,ENST00000393797,;MARS,upstream_gene_variant,,ENST00000552371,;MARS,upstream_gene_variant,,ENST00000315473,;MARS,upstream_gene_variant,,ENST00000447721,;MARS,downstream_gene_variant,,ENST00000549133,;MARS,upstream_gene_variant,,ENST00000548674,;MARS,upstream_gene_variant,,ENST00000548146,;MARS,5_prime_UTR_variant,,ENST00000537638,;MARS,upstream_gene_variant,,ENST00000547062,;MARS,upstream_gene_variant,,ENST00000551431,;MARS,upstream_gene_variant,,ENST00000547501,;MARS,upstream_gene_variant,,ENST00000553162,;MARS,upstream_gene_variant,,ENST00000548714,;MARS,upstream_gene_variant,,ENST00000551892,;MARS,upstream_gene_variant,,ENST00000552007,;MARS,upstream_gene_variant,,ENST00000546481,;MARS,upstream_gene_variant,,ENST00000551842,;MARS,upstream_gene_variant,,ENST00000553123,;MARS,upstream_gene_variant,,ENST00000545888,;MARS,upstream_gene_variant,,ENST00000550449,;MARS,upstream_gene_variant,,ENST00000549074,;	17	54	64	SUCCESS
IFFO1	25900	.	GRCh37	12	6659920	6659920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	110	1	ENST00000396840.2:c.871G>A	p.Ala291Thr	p.A291T	ENST00000396840		291	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41741.1	871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14516,hmmpanther:PTHR14516:SF2	.	.	ENSP00000349364	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000356896	Transcript	.	.	ENSG00000010295	24970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.33)	.	IFFO1_HUMAN	IFFO1	HGNC	Q9Y4M3_HUMAN,F8W8H2_HUMAN	.	UPI00006C2066	SNV	IFFO1,missense_variant,p.Ala291Thr,ENST00000356896,;IFFO1,missense_variant,p.Ala291Thr,ENST00000336604,;IFFO1,missense_variant,p.Ala291Thr,ENST00000396840,;IFFO1,5_prime_UTR_variant,,ENST00000465801,;IFFO1,5_prime_UTR_variant,,ENST00000436152,;IFFO1,3_prime_UTR_variant,,ENST00000487279,;IFFO1,non_coding_transcript_exon_variant,,ENST00000488007,;IFFO1,upstream_gene_variant,,ENST00000471408,;IFFO1,upstream_gene_variant,,ENST00000396830,;IFFO1,upstream_gene_variant,,ENST00000472558,;	915	112	81	SUCCESS
IRAK3	11213	.	GRCh37	12	66638446	66638446	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754507378	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	112	0	ENST00000261233.4:c.1068T>A	p.Asp356Glu	p.D356E	ENST00000261233	NM_007199.2	356	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS8975.1	1068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGATGTCTA	NONE	byFrequency	.	Superfamily_domains:SSF56112,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7,PROSITE_profiles:PS50011	.	.	ENSP00000261233	.	9/12	.	.	.	.	.	.	.	.	rs754507378	9/12	PASS	ENST00000261233	Transcript	.	.	ENSG00000090376	17020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRAK3_HUMAN	IRAK3	HGNC	.	.	UPI000013D14A	SNV	IRAK3,missense_variant,p.Asp356Glu,ENST00000261233,;IRAK3,missense_variant,p.Asp295Glu,ENST00000457197,;	1489	112	91	SUCCESS
B4GALNT3	283358	.	GRCh37	12	666812	666812	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781238076	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	49	151	0	ENST00000266383.5:c.2419G>T	p.Asp807Tyr	p.D807Y	ENST00000266383	NM_173593.3	807	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8504.1	2419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGACATG	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000266383	.	16/20	.	.	.	.	.	.	.	.	rs781238076	16/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Asp807Tyr,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	2432	151	133	SUCCESS
ENO2	2026	.	GRCh37	12	7026812	7026812	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	46	0	ENST00000229277.1:c.378G>C	p.Arg126=	p.R126=	ENST00000229277	NM_001975.2	126	cgG/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS8570.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGGAACT	NONE	.	.	Superfamily_domains:SSF54826,PIRSF_domain:PIRSF001400,Pfam_domain:PF03952,TIGRFAM_domain:TIGR01060,Gene3D:3.30.390.10,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF10,HAMAP:MF_00318	.	.	ENSP00000437402	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000535366	Transcript	.	.	ENSG00000111674	3353	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENOG_HUMAN	ENO2	HGNC	Q6FHV6_HUMAN,F5H1C3_HUMAN	.	UPI000013C8F1	SNV	ENO2,synonymous_variant,p.%3D,ENST00000541477,;ENO2,synonymous_variant,p.%3D,ENST00000544774,;ENO2,synonymous_variant,p.%3D,ENST00000229277,;ENO2,synonymous_variant,p.%3D,ENST00000538763,;ENO2,synonymous_variant,p.%3D,ENST00000535366,;ENO2,intron_variant,,ENST00000545045,;LRRC23,downstream_gene_variant,,ENST00000436789,;LRRC23,downstream_gene_variant,,ENST00000007969,;LRRC23,downstream_gene_variant,,ENST00000443597,;ENO2,upstream_gene_variant,,ENST00000543975,;LRRC23,downstream_gene_variant,,ENST00000429740,;ENO2,downstream_gene_variant,,ENST00000537688,;LRRC23,downstream_gene_variant,,ENST00000323702,;ENO2,upstream_gene_variant,,ENST00000534977,;LRRC23,downstream_gene_variant,,ENST00000472633,;ENO2,non_coding_transcript_exon_variant,,ENST00000542509,;ENO2,non_coding_transcript_exon_variant,,ENST00000441285,;ENO2,upstream_gene_variant,,ENST00000535275,;ENO2,downstream_gene_variant,,ENST00000537838,;LRRC23,downstream_gene_variant,,ENST00000431207,;ENO2,downstream_gene_variant,,ENST00000536199,;LRRC23,downstream_gene_variant,,ENST00000451681,;LRRC23,downstream_gene_variant,,ENST00000428946,;ENO2,downstream_gene_variant,,ENST00000539713,;	1004	46	37	SUCCESS
PTPRB	5787	.	GRCh37	12	70953021	70953021	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	24	0	ENST00000261266.5:c.4060+102T>A		p.*1354*	ENST00000261266	NM_002837.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44943.1	.	RADIA|MUTECT|MUSE	.	ATCCCATGTAA	NONE	.	.	.	.	.	ENSP00000334928	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODIFIER	18/33	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,3_prime_UTR_variant,,ENST00000551525,;PTPRB,intron_variant,,ENST00000538708,;PTPRB,intron_variant,,ENST00000550358,;PTPRB,intron_variant,,ENST00000261266,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;PTPRB,intron_variant,,ENST00000334414,;PTPRB,downstream_gene_variant,,ENST00000548122,;	.	24	10	SUCCESS
TPH2	121278	.	GRCh37	12	72425319	72425319	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	139	0	ENST00000333850.3:c.1317T>C	p.Ile439=	p.I439=	ENST00000333850	NM_173353.3	439	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS31859.1	1317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATTACCCG	NONE	.	.	PROSITE_profiles:PS51410,hmmpanther:PTHR11473:SF16,hmmpanther:PTHR11473,TIGRFAM_domain:TIGR01270,Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF56534	.	.	ENSP00000329093	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000333850	Transcript	.	.	ENSG00000139287	20692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPH2_HUMAN	TPH2	HGNC	Q14CC5_HUMAN,B3VS65_HUMAN,B3VS60_HUMAN,B3VS55_HUMAN,B3VS50_HUMAN,B3VS45_HUMAN,B3VS40_HUMAN,B3VS35_HUMAN,B3VS30_HUMAN,B3VS25_HUMAN,B3VS20_HUMAN,B3VS15_HUMAN	.	UPI000007446F	SNV	TPH2,synonymous_variant,p.%3D,ENST00000333850,;TPH2,intron_variant,,ENST00000551074,;TPH2,intron_variant,,ENST00000550403,;TPH2,intron_variant,,ENST00000547278,;TPH2,intron_variant,,ENST00000547348,;	1458	139	130	SUCCESS
NAV3	89795	.	GRCh37	12	78513452	78513452	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	156	0	ENST00000397909.2:c.3476C>G	p.Thr1159Ser	p.T1159S	ENST00000397909	NM_001024383.1	1159	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS41815.1	3476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTACCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	tolerated(0.81)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Thr1159Ser,ENST00000536525,;NAV3,missense_variant,p.Thr1159Ser,ENST00000397909,;NAV3,missense_variant,p.Thr1159Ser,ENST00000266692,;NAV3,missense_variant,p.Thr1159Ser,ENST00000228327,;NAV3,missense_variant,p.Thr231Ser,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	3649	156	125	SUCCESS
NANOG	79923	.	GRCh37	12	7947412	7947412	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	86	233	0	ENST00000229307.4:c.639C>T	p.Ile213=	p.I213=	ENST00000229307	NM_024865.2	213	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31736.1	639	MUTECT|MUSE|VARSCANS	.	AACATCCAGTC	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF29	.	.	ENSP00000229307	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000229307	Transcript	.	.	ENSG00000111704	20857	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NANOG_HUMAN	NANOG	HGNC	J7H4F6_HUMAN,F5GZI2_HUMAN	.	UPI000013C8F5	SNV	NANOG,synonymous_variant,p.%3D,ENST00000526286,;NANOG,synonymous_variant,p.%3D,ENST00000229307,;NANOG,downstream_gene_variant,,ENST00000541267,;NANOG,downstream_gene_variant,,ENST00000526434,;	858	233	229	SUCCESS
OTOGL	283310	.	GRCh37	12	80750668	80750668	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	110	228	0	ENST00000547103.1:c.5930A>T	p.Glu1977Val	p.E1977V	ENST00000547103		1977	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	.	5966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAACCTT	NONE	.	.	hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	48/58	.	.	.	.	.	.	.	.	.	48/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	deleterious(0.03)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Glu8Val,ENST00000546620,;OTOGL,missense_variant,p.Glu1989Val,ENST00000458043,;OTOGL,missense_variant,p.Glu6Val,ENST00000550182,;OTOGL,missense_variant,p.Glu432Val,ENST00000298820,;OTOGL,missense_variant,p.Glu1977Val,ENST00000547103,;OTOGL,missense_variant,p.Glu41Val,ENST00000551340,;	5972	228	252	SUCCESS
PPFIA2	8499	.	GRCh37	12	82147865	82147865	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	127	0	ENST00000549396.1:c.136C>G	p.Leu46Val	p.L46V	ENST00000549396	NM_003625.3	46	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS55857.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTAGAAGAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.664)	.	tolerated(0.11)	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,missense_variant,p.Leu46Val,ENST00000333447,;PPFIA2,missense_variant,p.Leu46Val,ENST00000551442,;PPFIA2,missense_variant,p.Leu46Val,ENST00000549396,;PPFIA2,missense_variant,p.Leu46Val,ENST00000549325,;PPFIA2,missense_variant,p.Leu46Val,ENST00000548586,;PPFIA2,missense_variant,p.Leu46Val,ENST00000550584,;PPFIA2,missense_variant,p.Leu46Val,ENST00000547623,;PPFIA2,missense_variant,p.Leu46Val,ENST00000552948,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000550798,;	297	127	113	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518207	85518207	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	61	0	ENST00000393217.2:c.3917G>T	p.Ser1306Ile	p.S1306I	ENST00000393217	NM_001079910.1	1306	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS41816.1	3917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGTATTC	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	tolerated(0.05)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Ser1306Ile,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	3978	61	73	SUCCESS
KITLG	4254	.	GRCh37	12	88910260	88910260	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1263690103	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	65	0	ENST00000228280.5:c.371A>G	p.Lys124Arg	p.K124R	ENST00000228280	NM_000899.4	124	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS31868.1	371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTTTTAGA	NONE	.	.	Superfamily_domains:SSF47266,PIRSF_domain:PIRSF015599,Gene3D:1.20.1250.10,Pfam_domain:PF02404,hmmpanther:PTHR11574	.	.	ENSP00000228280	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000228280	Transcript	.	.	ENSG00000049130	6343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.23)	.	SCF_HUMAN	KITLG	HGNC	S4R442_HUMAN,S4R384_HUMAN	.	UPI000002D482	SNV	KITLG,missense_variant,p.Lys124Arg,ENST00000228280,;KITLG,missense_variant,p.Lys124Arg,ENST00000347404,;KITLG,intron_variant,,ENST00000357116,;KITLG,downstream_gene_variant,,ENST00000552044,;KITLG,non_coding_transcript_exon_variant,,ENST00000378535,;	554	65	42	SUCCESS
A2ML1	144568	.	GRCh37	12	8990976	8990976	+	synonymous_variant	Silent	SNP	C	C	T	rs761769559	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	44	173	1	ENST00000299698.7:c.900C>T	p.Thr300=	p.T300=	ENST00000299698	NM_144670.4	300	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS8596.2	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCTTTGA	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412	.	.	ENSP00000299698	.	9/36	.	.	.	.	.	.	.	.	rs761769559,COSM268365	9/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,synonymous_variant,p.%3D,ENST00000299698,;A2ML1,upstream_gene_variant,,ENST00000541459,;A2ML1,downstream_gene_variant,,ENST00000537546,;	1080	174	101	SUCCESS
PHC1	1911	.	GRCh37	12	9083485	9083485	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	62	0	ENST00000543824.1:c.1067C>A	p.Thr356Lys	p.T356K	ENST00000543824		356	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS8597.1	1067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGACAGCCA	NONE	.	.	hmmpanther:PTHR12247:SF21,hmmpanther:PTHR12247	.	.	ENSP00000440674	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious_low_confidence(0)	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,missense_variant,p.Thr356Lys,ENST00000543824,;PHC1,missense_variant,p.Thr135Lys,ENST00000536844,;PHC1,missense_variant,p.Thr311Lys,ENST00000433083,;PHC1,missense_variant,p.Thr356Lys,ENST00000544916,;PHC1,intron_variant,,ENST00000542346,;PHC1,downstream_gene_variant,,ENST00000539063,;PHC1,upstream_gene_variant,,ENST00000537610,;PHC1,non_coding_transcript_exon_variant,,ENST00000433847,;PHC1,non_coding_transcript_exon_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,upstream_gene_variant,,ENST00000535510,;PHC1,upstream_gene_variant,,ENST00000540809,;	1399	62	89	SUCCESS
CCER1	196477	.	GRCh37	12	91348855	91348855	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	78	0	ENST00000358859.2:c.-336A>T		p.*112*	ENST00000358859	NM_152638.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9036.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGAGGC	NONE	.	.	.	.	.	ENSP00000351727	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358859	Transcript	.	.	ENSG00000197651	28373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCER1_HUMAN	CCER1	HGNC	.	.	UPI000006EE70	SNV	CCER1,5_prime_UTR_variant,,ENST00000358859,;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	99	78	65	SUCCESS
KERA	11081	.	GRCh37	12	91445249	91445249	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	46	1	ENST00000266719.3:c.933A>C	p.Ala311=	p.A311=	ENST00000266719	NM_007035.3	311	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9037.1	933	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCTGCAGG	NONE	.	.	hmmpanther:PTHR24371:SF60,hmmpanther:PTHR24371,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000266719	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000266719	Transcript	.	.	ENSG00000139330	6309	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KERA_HUMAN	KERA	HGNC	.	.	UPI000000161F	SNV	KERA,synonymous_variant,p.%3D,ENST00000266719,;	1181	47	51	SUCCESS
DCN	1634	.	GRCh37	12	91546950	91546950	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	90	0	ENST00000052754.5:c.669T>A	p.Leu223=	p.L223=	ENST00000052754	NM_001920.3	223	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9039.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTAAGGGA	BUFFER|p.T224M|c.671C>T|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00364,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	.	ENSP00000052754	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000052754	Transcript	.	.	ENSG00000011465	2705	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGS2_HUMAN	DCN	HGNC	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN	.	UPI000013187E	SNV	DCN,synonymous_variant,p.%3D,ENST00000228329,;DCN,synonymous_variant,p.%3D,ENST00000546391,;DCN,synonymous_variant,p.%3D,ENST00000052754,;DCN,synonymous_variant,p.%3D,ENST00000420120,;DCN,synonymous_variant,p.%3D,ENST00000552962,;DCN,synonymous_variant,p.%3D,ENST00000393155,;DCN,synonymous_variant,p.%3D,ENST00000425043,;DCN,synonymous_variant,p.%3D,ENST00000547568,;DCN,intron_variant,,ENST00000456569,;DCN,intron_variant,,ENST00000441303,;DCN,intron_variant,,ENST00000303320,;DCN,upstream_gene_variant,,ENST00000550758,;	1171	90	78	SUCCESS
CD69	969	.	GRCh37	12	9907785	9907785	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746297540	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	125	0	ENST00000228434.3:c.260A>G	p.Glu87Gly	p.E87G	ENST00000228434	NM_001781.2	87	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS8604.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTCAGAG	NONE	byFrequency	.	hmmpanther:PTHR22800:SF156,hmmpanther:PTHR22800,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000228434	.	3/5	.	.	.	.	.	.	.	.	rs746297540	3/5	PASS	ENST00000228434	Transcript	.	.	ENSG00000110848	1694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.07)	.	CD69_HUMAN	CD69	HGNC	Q6LAB3_HUMAN,Q53ZX0_HUMAN,B4E009_HUMAN	.	UPI00000622D7	SNV	CD69,missense_variant,p.Glu87Gly,ENST00000536709,;CD69,missense_variant,p.Glu87Gly,ENST00000228434,;CD69,non_coding_transcript_exon_variant,,ENST00000416624,;CD69,downstream_gene_variant,,ENST00000543147,;	341	125	101	SUCCESS
EFNB2	1948	.	GRCh37	13	107145427	107145427	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	29	0	ENST00000245323.4:c.963G>A	p.Met321Ile	p.M321I	ENST00000245323	NM_004093.3	321	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS9507.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCATCTC	NONE	.	.	hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304	.	.	ENSP00000245323	.	5/5	.	.	.	.	.	.	.	.	COSM696092	5/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.517)	.	tolerated(0.2)	1	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,missense_variant,p.Met321Ile,ENST00000245323,;	1113	29	32	SUCCESS
COL4A2	1284	.	GRCh37	13	111158834	111158834	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	25	287	0	ENST00000360467.5:c.4475T>A	p.Leu1492Gln	p.L1492Q	ENST00000360467	NM_001846.2	1492	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS41907.1	4475	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGGTGA	NONE	.	.	Superfamily_domains:SSF56436,SMART_domains:SM00111,Pfam_domain:PF01413,Gene3D:1t60D00,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023,PROSITE_profiles:PS51403	.	.	ENSP00000353654	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,missense_variant,p.Leu1492Gln,ENST00000360467,;COL4A2-AS1,intron_variant,,ENST00000417970,;COL4A2,non_coding_transcript_exon_variant,,ENST00000480609,;COL4A2,upstream_gene_variant,,ENST00000463084,;	4781	287	234	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111938504	111938504	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	72	0	ENST00000375741.2:c.2024A>G	p.Lys675Arg	p.K675R	ENST00000375741	NM_145735.2	675	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS45068.1	2024	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAAGAGCC	NONE	.	.	hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826	.	.	ENSP00000364893	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.621)	.	tolerated(0.09)	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,missense_variant,p.Lys497Arg,ENST00000375736,;ARHGEF7,missense_variant,p.Lys572Arg,ENST00000375737,;ARHGEF7,missense_variant,p.Lys419Arg,ENST00000478679,;ARHGEF7,missense_variant,p.Lys497Arg,ENST00000218789,;ARHGEF7,missense_variant,p.Lys625Arg,ENST00000375739,;ARHGEF7,missense_variant,p.Lys497Arg,ENST00000375723,;ARHGEF7,missense_variant,p.Lys497Arg,ENST00000426073,;ARHGEF7,missense_variant,p.Lys675Arg,ENST00000375741,;ARHGEF7,missense_variant,p.Lys654Arg,ENST00000317133,;ARHGEF7,missense_variant,p.Lys582Arg,ENST00000370623,;ARHGEF7,downstream_gene_variant,,ENST00000466143,;ARHGEF7,downstream_gene_variant,,ENST00000544132,;ARHGEF7,non_coding_transcript_exon_variant,,ENST00000491688,;ARHGEF7,downstream_gene_variant,,ENST00000469877,;	2274	72	71	SUCCESS
PSPC1P2	100873875	.	GRCh37	13	25144830	25144830	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	144	0	ENST00000455130.1:n.189C>A		p.*63*	ENST00000455130				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGCAAATA	NONE	.	.	.	.	.	.	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000453498	Transcript	.	.	ENSG00000243008	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-556N21.1	Clone_based_vega_gene	.	.	.	SNV	RP11-556N21.1,non_coding_transcript_exon_variant,,ENST00000453498,;PSPC1P2,non_coding_transcript_exon_variant,,ENST00000455130,;TPTE2P6,intron_variant,,ENST00000445572,;	371	144	123	SUCCESS
MTUS2	23281	.	GRCh37	13	30066785	30066785	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	33	91	0	ENST00000431530.3:c.3538T>C		p.X1180_splice	ENST00000431530	NM_001033602.2	1180	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS45022.1	3538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATTGATG	NONE	.	.	hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	.	.	ENSP00000392057	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000431530	Transcript	.	.	ENSG00000132938	20595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MTUS2	HGNC	J3KQA9_HUMAN,B4DWQ4_HUMAN	.	UPI0000F734AC	SNV	MTUS2,synonymous_variant,p.%3D,ENST00000380808,;MTUS2,synonymous_variant,p.%3D,ENST00000542829,;MTUS2,synonymous_variant,p.%3D,ENST00000431530,;MTUS2-AS1,upstream_gene_variant,,ENST00000323380,;MTUS2,upstream_gene_variant,,ENST00000400542,;MTUS2,upstream_gene_variant,,ENST00000467990,;	3596	91	91	SUCCESS
HSPH1	10808	.	GRCh37	13	31735779	31735779	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	24	0	ENST00000320027.5:c.-60A>T		p.*20*	ENST00000320027	NM_006644.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9340.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCTTC	NONE	.	.	.	.	.	ENSP00000318687	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000320027	Transcript	.	.	ENSG00000120694	16969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS105_HUMAN	HSPH1	HGNC	.	.	UPI0000001C62	SNV	HSPH1,5_prime_UTR_variant,,ENST00000320027,;HSPH1,5_prime_UTR_variant,,ENST00000380406,;HSPH1,5_prime_UTR_variant,,ENST00000380405,;HSPH1,intron_variant,,ENST00000429785,;HSPH1,intron_variant,,ENST00000445273,;HSPH1,5_prime_UTR_variant,,ENST00000602786,;	286	24	33	SUCCESS
NBEA	26960	.	GRCh37	13	35729982	35729982	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	59	0	ENST00000400445.3:c.2517T>A	p.Ile839=	p.I839=	ENST00000400445	NM_015678.4	839	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS45026.1	2517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTCAGAA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	19/58	.	.	.	.	.	.	.	.	.	19/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,synonymous_variant,p.%3D,ENST00000400445,;NBEA,synonymous_variant,p.%3D,ENST00000540320,;NBEA,synonymous_variant,p.%3D,ENST00000310336,;NBEA,synonymous_variant,p.%3D,ENST00000379939,;	3051	59	83	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049699	36049699	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753585442	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	49	0	ENST00000379919.4:c.577C>A	p.Pro193Thr	p.P193T	ENST00000379919	NM_005584.4	193	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9353.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGATGT	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	rs753585442	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.17)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Pro193Thr,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1134	49	32	SUCCESS
TPT1	7178	.	GRCh37	13	45915286	45915286	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	21	0	ENST00000530705.1:c.-82C>T		p.*28*	ENST00000530705				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9397.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGCGCTC	NONE	.	.	.	.	.	ENSP00000431872	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000530705	Transcript	.	.	ENSG00000133112	12022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCTP_HUMAN	TPT1	HGNC	Q8TBK7_HUMAN,Q86YH5_HUMAN,J3KPG2_HUMAN	.	UPI0000000FED	SNV	TPT1,5_prime_UTR_variant,,ENST00000527226,;TPT1,5_prime_UTR_variant,,ENST00000379055,;TPT1,5_prime_UTR_variant,,ENST00000530705,;TPT1,5_prime_UTR_variant,,ENST00000379056,;TPT1,upstream_gene_variant,,ENST00000379060,;TPT1,upstream_gene_variant,,ENST00000528619,;TPT1,upstream_gene_variant,,ENST00000530245,;TPT1,upstream_gene_variant,,ENST00000309246,;SNORA31,upstream_gene_variant,,ENST00000362607,;SNORA31,upstream_gene_variant,,ENST00000517242,;RP11-290D2.6,non_coding_transcript_exon_variant,,ENST00000610057,;TPT1-AS1,upstream_gene_variant,,ENST00000520310,;TPT1-AS1,upstream_gene_variant,,ENST00000521507,;TPT1-AS1,upstream_gene_variant,,ENST00000412946,;TPT1-AS1,upstream_gene_variant,,ENST00000517509,;TPT1-AS1,upstream_gene_variant,,ENST00000523445,;TPT1-AS1,upstream_gene_variant,,ENST00000523506,;TPT1-AS1,upstream_gene_variant,,ENST00000520622,;TPT1-AS1,upstream_gene_variant,,ENST00000520590,;TPT1-AS1,upstream_gene_variant,,ENST00000521336,;TPT1,upstream_gene_variant,,ENST00000529421,;TPT1,non_coding_transcript_exon_variant,,ENST00000442760,;TPT1,non_coding_transcript_exon_variant,,ENST00000490277,;TPT1-AS1,upstream_gene_variant,,ENST00000520924,;TPT1-AS1,upstream_gene_variant,,ENST00000524062,;TPT1-AS1,upstream_gene_variant,,ENST00000522859,;TPT1,upstream_gene_variant,,ENST00000533567,;TPT1,upstream_gene_variant,,ENST00000484604,;	220	21	16	SUCCESS
SLITRK6	84189	.	GRCh37	13	86368800	86368800	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	62	176	0	ENST00000400286.2:c.1844T>G	p.Leu615Arg	p.L615R	ENST00000400286	NM_032229.2	615	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS41903.1	1844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCAGAAGT	NONE	.	.	hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373,Transmembrane_helices:TMhelix	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	SNV	SLITRK6,missense_variant,p.Leu615Arg,ENST00000400286,;	2443	176	156	SUCCESS
ABCC4	10257	.	GRCh37	13	95858957	95858957	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	53	154	0	ENST00000376887.4:c.990C>A	p.Ile330=	p.I330=	ENST00000376887	NM_005845.3	330	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9474.1	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATGATTTT	NONE	.	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50929,Transmembrane_helices:TMhelix	.	.	ENSP00000366084	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000376887	Transcript	.	.	ENSG00000125257	55	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP4_HUMAN	ABCC4	HGNC	Q8IUA3_HUMAN	.	UPI00001A36E6	SNV	ABCC4,synonymous_variant,p.%3D,ENST00000431522,;ABCC4,synonymous_variant,p.%3D,ENST00000376887,;ABCC4,synonymous_variant,p.%3D,ENST00000412704,;ABCC4,synonymous_variant,p.%3D,ENST00000536256,;ABCC4,3_prime_UTR_variant,,ENST00000538287,;snoU13,upstream_gene_variant,,ENST00000459449,;	1105	154	112	SUCCESS
DZIP1	22873	.	GRCh37	13	96237036	96237036	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	163	0	ENST00000347108.3:c.2478G>T	p.Val826=	p.V826=	ENST00000347108		826	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9478.1	2478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGCACATG	NONE	.	.	hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5	.	.	ENSP00000257312	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000347108	Transcript	.	.	ENSG00000134874	20908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZIP1_HUMAN	DZIP1	HGNC	B3KSP1_HUMAN	.	UPI000000D9B8	SNV	DZIP1,synonymous_variant,p.%3D,ENST00000376829,;DZIP1,synonymous_variant,p.%3D,ENST00000361396,;DZIP1,synonymous_variant,p.%3D,ENST00000361156,;DZIP1,synonymous_variant,p.%3D,ENST00000347108,;DZIP1,non_coding_transcript_exon_variant,,ENST00000479518,;DZIP1,non_coding_transcript_exon_variant,,ENST00000485031,;	2911	163	112	SUCCESS
OXGR1	27199	.	GRCh37	13	97639601	97639601	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1472834802	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	137	0	ENST00000298440.1:c.413C>A	p.Pro138Gln	p.P138Q	ENST00000298440	NM_080818.3	138	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS9482.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTGGGTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF15,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01157	.	.	ENSP00000298440	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298440	Transcript	.	.	ENSG00000165621	4531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OXGR1_HUMAN	OXGR1	HGNC	F5H6U5_HUMAN,F5H3P1_HUMAN,B2R986_HUMAN	.	UPI000003BCD2	SNV	OXGR1,missense_variant,p.Pro138Gln,ENST00000543457,;OXGR1,missense_variant,p.Pro138Gln,ENST00000298440,;OXGR1,downstream_gene_variant,,ENST00000541038,;OXGR1,downstream_gene_variant,,ENST00000541518,;LINC00359,upstream_gene_variant,,ENST00000606237,;	657	137	100	SUCCESS
TECPR2	9895	.	GRCh37	14	102901170	102901170	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	55	0	ENST00000359520.7:c.2016C>T	p.Gly672=	p.G672=	ENST00000359520	NM_014844.3	672	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32162.1	2016	MUTECT|MUSE	.	GAAGGCAGCCC	NONE	.	.	hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287	.	.	ENSP00000352510	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000359520	Transcript	1	.	ENSG00000196663	19957	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCPR2_HUMAN	TECPR2	HGNC	.	.	UPI00001FDC38	SNV	TECPR2,synonymous_variant,p.%3D,ENST00000359520,;TECPR2,synonymous_variant,p.%3D,ENST00000558678,;TECPR2,upstream_gene_variant,,ENST00000560060,;TECPR2,upstream_gene_variant,,ENST00000557786,;	2242	55	47	SUCCESS
TDRD9	122402	.	GRCh37	14	104460669	104460669	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	59	0	ENST00000409874.4:c.1181G>T	p.Gly394Val	p.G394V	ENST00000409874	NM_153046.2	394	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9987.2	1181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGGTCTGG	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80,PROSITE_profiles:PS51194	.	.	ENSP00000387303	.	10/36	.	.	.	.	.	.	.	.	.	10/36	PASS	ENST00000409874	Transcript	.	.	ENSG00000156414	20122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	TDRD9_HUMAN	TDRD9	HGNC	.	.	UPI0001642306	SNV	TDRD9,missense_variant,p.Gly121Val,ENST00000557332,;TDRD9,missense_variant,p.Gly394Val,ENST00000339063,;TDRD9,missense_variant,p.Gly394Val,ENST00000409874,;	1229	59	72	SUCCESS
KIF26A	26153	.	GRCh37	14	104618412	104618412	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs747156964	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	103	0	ENST00000423312.2:c.349T>A	p.Cys117Ser	p.C117S	ENST00000423312	NM_015656.1	117	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS45171.1	349	MUTECT|MUSE	.	CAGCCTGTCGC	NONE	.	.	.	.	.	ENSP00000388241	.	3/15	.	.	.	.	.	.	.	.	rs747156964	3/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	tolerated(0.32)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Cys117Ser,ENST00000423312,;KIF26A,5_prime_UTR_variant,,ENST00000315264,;	349	103	70	SUCCESS
KIF26A	26153	.	GRCh37	14	104640574	104640574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	117	1	ENST00000423312.2:c.2120C>A	p.Ala707Asp	p.A707D	ENST00000423312	NM_015656.1	707	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS45171.1	2120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCCAGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000388241	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	deleterious(0)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Ala568Asp,ENST00000315264,;KIF26A,missense_variant,p.Ala707Asp,ENST00000423312,;	2120	118	81	SUCCESS
TMEM179	388021	.	GRCh37	14	105070865	105070865	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779256818	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	57	0	ENST00000556573.1:c.214C>T	p.Arg72Cys	p.R72C	ENST00000556573	NM_001286389.1	72	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS9988.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGGCAGG	NONE	.	.	hmmpanther:PTHR31872	.	.	ENSP00000340477	.	1/3	.	.	.	.	.	.	.	.	rs779256818	1/3	PASS	ENST00000341595	Transcript	.	.	ENSG00000258986	20137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	T179A_HUMAN	TMEM179	HGNC	.	.	UPI00001C09DF	SNV	TMEM179,missense_variant,p.Arg72Cys,ENST00000341595,;TMEM179,missense_variant,p.Arg72Cys,ENST00000556573,;TMEM179,missense_variant,p.Arg72Cys,ENST00000415614,;	1120	57	39	SUCCESS
IGHG1	3500	.	GRCh37	14	106208357	106208357	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	66	164	0	ENST00000390549.2:c.543C>T	p.Ser181=	p.S181=	ENST00000390549		181	agC/agT	0	.	.	.	.	.	A	S	IG_C_gene	YES	.	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTGCTGTT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835	.	.	ENSP00000374990	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000390548	Transcript	1	.	ENSG00000211896	5525	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHG1	HGNC	.	.	UPI000173A69D	SNV	IGHG1,synonymous_variant,p.%3D,ENST00000390549,;IGHG1,synonymous_variant,p.%3D,ENST00000390548,;IGHG1,intron_variant,,ENST00000390542,;	543	164	142	SUCCESS
OR4K17	390436	.	GRCh37	14	20586546	20586546	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	93	1	ENST00000315543.4:c.981A>C	p.Ile327=	p.I327=	ENST00000315543	NM_001004715.1	327	atA/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS32030.1	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATATCCAT	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000319197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315543	Transcript	.	.	ENSG00000176230	15355	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4KH_HUMAN	OR4K17	HGNC	.	.	UPI000004B1EA	SNV	OR4K17,synonymous_variant,p.%3D,ENST00000315543,;	981	94	67	SUCCESS
CHD8	57680	.	GRCh37	14	21861848	21861848	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1192042781	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	91	1	ENST00000399982.2:c.6106C>T	p.Pro2036Ser	p.P2036S	ENST00000399982	NM_001170629.1	2036	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS53885.1	6106	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGTCGGC	NONE	.	.	.	.	.	ENSP00000382863	.	31/37	.	.	.	.	.	.	.	.	.	31/37	PASS	ENST00000399982	Transcript	.	.	ENSG00000100888	20153	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.47)	.	CHD8_HUMAN	CHD8	HGNC	.	.	UPI00002375B9	SNV	CHD8,missense_variant,p.Pro2036Ser,ENST00000557364,;CHD8,missense_variant,p.Pro1757Ser,ENST00000430710,;CHD8,missense_variant,p.Pro2036Ser,ENST00000399982,;CHD8,upstream_gene_variant,,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,;SNORD9,upstream_gene_variant,,ENST00000362566,;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000555301,;CHD8,downstream_gene_variant,,ENST00000557329,;	6171	92	71	SUCCESS
MYH6	4624	.	GRCh37	14	23865974	23865974	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	116	0	ENST00000356287.3:c.2221A>C	p.Arg741=	p.R741=	ENST00000356287		741	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS9600.1	2221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGCTAT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	19/39	.	.	.	.	.	.	.	.	.	19/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,synonymous_variant,p.%3D,ENST00000405093,;MYH6,synonymous_variant,p.%3D,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	2292	116	101	SUCCESS
MYH7	4625	.	GRCh37	14	23901694	23901694	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	52	140	1	ENST00000355349.3:c.524T>G	p.Leu175Arg	p.L175R	ENST00000355349	NM_000257.2	175	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS9601.1	524	RADIA|SOMATICSNIPER|VARSCANS	.	TGATCAGGATG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000347507	.	6/40	.	.	.	.	.	.	.	.	COSM954784	6/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(1)	.	deleterious(0)	1	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Leu175Arg,ENST00000355349,;	687	141	116	SUCCESS
RIPK3	11035	.	GRCh37	14	24806550	24806550	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	48	0	ENST00000216274.5:c.1017T>A	p.Ser339=	p.S339=	ENST00000216274	NM_006871.3	339	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9628.1	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACGAGAGTG	NONE	.	.	hmmpanther:PTHR23257:SF346,hmmpanther:PTHR23257	.	.	ENSP00000216274	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000216274	Transcript	.	.	ENSG00000129465	10021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIPK3_HUMAN	RIPK3	HGNC	.	.	UPI00000369E2	SNV	RIPK3,synonymous_variant,p.%3D,ENST00000554569,;RIPK3,synonymous_variant,p.%3D,ENST00000216274,;RP11-934B9.3,synonymous_variant,p.%3D,ENST00000555591,;ADCY4,upstream_gene_variant,,ENST00000396747,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000310677,;ADCY4,upstream_gene_variant,,ENST00000559167,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,3_prime_UTR_variant,,ENST00000554756,;RIPK3,downstream_gene_variant,,ENST00000557253,;ADCY4,upstream_gene_variant,,ENST00000554577,;RIPK3,downstream_gene_variant,,ENST00000557662,;ADCY4,upstream_gene_variant,,ENST00000554674,;RIPK3,downstream_gene_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;	1236	48	26	SUCCESS
NYNRIN	57523	.	GRCh37	14	24882219	24882219	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755102842	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	139	1	ENST00000382554.3:c.2659G>A	p.Ala887Thr	p.A887T	ENST00000382554	NM_025081.2	887	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45090.1	2659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCAGAG	NONE	byFrequency	.	Pfam_domain:PF11977,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	7/9	.	.	.	.	.	.	.	.	rs755102842	7/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Ala887Thr,ENST00000382554,;NYNRIN,non_coding_transcript_exon_variant,,ENST00000554505,;	2977	140	91	SUCCESS
HECTD1	25831	.	GRCh37	14	31641123	31641123	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	117	322	1	ENST00000399332.1:c.1276C>T	p.Gln426Ter	p.Q426*	ENST00000399332	NM_015382.2	426	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS41939.1	1276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGACCTC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000382269	.	8/43	.	.	.	.	.	.	.	.	.	8/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,stop_gained,p.Gln426Ter,ENST00000399332,;HECTD1,stop_gained,p.Gln426Ter,ENST00000553700,;HECTD1,stop_gained,p.Gln426Ter,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000553957,;HECTD1,downstream_gene_variant,,ENST00000554471,;	1765	323	296	SUCCESS
ARHGAP5	394	.	GRCh37	14	32560362	32560362	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1566659416	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	48	99	1	ENST00000345122.3:c.487A>G	p.Ile163Val	p.I163V	ENST00000345122	NM_001030055.1	163	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32062.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCATTGAT	NONE	.	.	hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,Pfam_domain:PF00071,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000371897	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000345122	Transcript	.	.	ENSG00000100852	675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.94)	.	RHG05_HUMAN	ARHGAP5	HGNC	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN	.	UPI000057B85C	SNV	ARHGAP5,missense_variant,p.Ile163Val,ENST00000432921,;ARHGAP5,missense_variant,p.Ile163Val,ENST00000539826,;ARHGAP5,missense_variant,p.Ile163Val,ENST00000345122,;ARHGAP5,missense_variant,p.Ile163Val,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	802	100	93	SUCCESS
NPAS3	64067	.	GRCh37	14	34269082	34269082	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	141	0	ENST00000356141.4:c.1569G>C	p.Pro523=	p.P523=	ENST00000356141		523	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS53891.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGGACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	.	.	ENSP00000348460	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,synonymous_variant,p.%3D,ENST00000548645,;NPAS3,synonymous_variant,p.%3D,ENST00000551492,;NPAS3,synonymous_variant,p.%3D,ENST00000551634,;NPAS3,synonymous_variant,p.%3D,ENST00000346562,;NPAS3,synonymous_variant,p.%3D,ENST00000357798,;NPAS3,synonymous_variant,p.%3D,ENST00000356141,;	1569	141	108	SUCCESS
NPAS3	64067	.	GRCh37	14	34270267	34270267	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	112	1	ENST00000356141.4:c.2754C>G	p.Tyr918Ter	p.Y918*	ENST00000356141		918	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS53891.1	2754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTACAGCAA	NONE	.	.	hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	.	.	ENSP00000348460	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,stop_gained,p.Tyr888Ter,ENST00000548645,;NPAS3,stop_gained,p.Tyr923Ter,ENST00000551492,;NPAS3,stop_gained,p.Tyr892Ter,ENST00000551634,;NPAS3,stop_gained,p.Tyr886Ter,ENST00000346562,;NPAS3,stop_gained,p.Tyr905Ter,ENST00000357798,;NPAS3,stop_gained,p.Tyr918Ter,ENST00000356141,;	2754	113	93	SUCCESS
TTC6	319089	.	GRCh37	14	38293067	38293067	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	50	137	0	ENST00000267368.7:c.781G>T	p.Glu261Ter	p.E261*	ENST00000267368		261	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	.	4879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGAAGCC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR23083:SF351,hmmpanther:PTHR23083,PROSITE_profiles:PS50293	.	.	ENSP00000451131	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000553443	Transcript	.	.	ENSG00000139865	19739	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TTC6	HGNC	Q3SY87_HUMAN,G3V3A5_HUMAN	.	UPI00021CF1B4	SNV	TTC6,stop_gained,p.Glu261Ter,ENST00000267368,;TTC6,stop_gained,p.Glu1627Ter,ENST00000553443,;TTC6,stop_gained,p.Glu341Ter,ENST00000382320,;TTC6,stop_gained,p.Glu261Ter,ENST00000476979,;RNU6-1277P,downstream_gene_variant,,ENST00000364561,;TTC6,stop_gained,p.Glu358Ter,ENST00000478811,;TTC6,intron_variant,,ENST00000533625,;TTC6,upstream_gene_variant,,ENST00000555921,;	4879	137	107	SUCCESS
CLEC14A	161198	.	GRCh37	14	38724410	38724410	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1377042221	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	72	0	ENST00000342213.2:c.818G>A	p.Cys273Tyr	p.C273Y	ENST00000342213	NM_175060.2	273	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS9667.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCACATTCG	NONE	.	.	hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838,Gene3D:2.10.25.10,Superfamily_domains:SSF57196	.	.	ENSP00000353013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342213	Transcript	.	.	ENSG00000176435	19832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CLC14_HUMAN	CLEC14A	HGNC	.	.	UPI000000CBD4	SNV	CLEC14A,missense_variant,p.Cys273Tyr,ENST00000342213,;	1165	72	55	SUCCESS
LRFN5	145581	.	GRCh37	14	42356398	42356398	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	79	0	ENST00000298119.4:c.570C>A	p.Thr190=	p.T190=	ENST00000298119	NM_152447.3	190	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9678.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCTTCTC	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13306,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS51450	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,synonymous_variant,p.%3D,ENST00000298119,;LRFN5,synonymous_variant,p.%3D,ENST00000554120,;LRFN5,synonymous_variant,p.%3D,ENST00000554171,;	1759	79	88	SUCCESS
NIN	51199	.	GRCh37	14	51297232	51297232	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	96	150	0	ENST00000382041.3:c.-72G>T		p.*24*	ENST00000382041	NM_016350.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCGCTCT	NONE	.	.	.	.	.	ENSP00000371472	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,5_prime_UTR_variant,,ENST00000389868,;NIN,5_prime_UTR_variant,,ENST00000245441,;NIN,5_prime_UTR_variant,,ENST00000324330,;NIN,5_prime_UTR_variant,,ENST00000382041,;NIN,5_prime_UTR_variant,,ENST00000496749,;NIN,5_prime_UTR_variant,,ENST00000453196,;NIN,5_prime_UTR_variant,,ENST00000453401,;NIN,upstream_gene_variant,,ENST00000382043,;NIN,5_prime_UTR_variant,,ENST00000476352,;NIN,non_coding_transcript_exon_variant,,ENST00000463419,;	120	150	177	SUCCESS
DLGAP5	9787	.	GRCh37	14	55629758	55629758	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	65	0	ENST00000247191.2:c.1584C>G	p.Ile528Met	p.I528M	ENST00000247191	NM_014750.4	528	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS9723.1	1584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTGATCAG	NONE	.	.	hmmpanther:PTHR12353,Pfam_domain:PF03359	.	.	ENSP00000247191	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000247191	Transcript	.	.	ENSG00000126787	16864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.24)	.	DLGP5_HUMAN	DLGAP5	HGNC	G3V543_HUMAN,G3V4E5_HUMAN	.	UPI000013CC13	SNV	DLGAP5,missense_variant,p.Ile528Met,ENST00000247191,;DLGAP5,missense_variant,p.Ile528Met,ENST00000395425,;	1801	65	43	SUCCESS
KTN1	3895	.	GRCh37	14	56079277	56079277	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1357275532	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	88	208	2	ENST00000395314.3:c.511A>G	p.Lys171Glu	p.K171E	ENST00000395314	NM_001079521.1	171	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41957.1	511	RADIA|SOMATICSNIPER|VARSCANS	.	AGTCTAAAAAT	NONE	.	.	hmmpanther:PTHR18864,Low_complexity_(Seg):seg	.	.	ENSP00000378725	.	2/44	.	.	.	.	.	.	.	.	.	2/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.753)	.	tolerated(0.06)	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,missense_variant,p.Lys171Glu,ENST00000395308,;KTN1,missense_variant,p.Lys171Glu,ENST00000438792,;KTN1,missense_variant,p.Lys171Glu,ENST00000395309,;KTN1,missense_variant,p.Lys171Glu,ENST00000413890,;KTN1,missense_variant,p.Lys171Glu,ENST00000395311,;KTN1,missense_variant,p.Lys171Glu,ENST00000395314,;KTN1,missense_variant,p.Lys171Glu,ENST00000416613,;KTN1,intron_variant,,ENST00000554567,;KTN1,downstream_gene_variant,,ENST00000555498,;KTN1,downstream_gene_variant,,ENST00000557267,;KTN1,missense_variant,p.Lys171Glu,ENST00000459737,;	579	210	218	SUCCESS
SYNE2	23224	.	GRCh37	14	64519465	64519465	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	48	125	1	ENST00000344113.4:c.8834G>A	p.Cys2945Tyr	p.C2945Y	ENST00000344113	NM_015180.4	2945	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS9761.2	8834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGCAGAC	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	48/116	.	.	.	.	.	.	.	.	.	48/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Cys2978Tyr,ENST00000554584,;SYNE2,missense_variant,p.Cys2945Tyr,ENST00000358025,;SYNE2,missense_variant,p.Cys2945Tyr,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000557005,;	9064	126	134	SUCCESS
FNTB	2342	.	GRCh37	14	65527939	65527939	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	165	1	ENST00000246166.2:c.1223T>G	p.Val408Gly	p.V408G	ENST00000246166	NM_002028.3	408	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS9769.1	1223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTGATCC	NONE	.	.	hmmpanther:PTHR11774,hmmpanther:PTHR11774:SF6,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000246166	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000246166	Transcript	.	.	ENSG00000257365	3785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	FNTB_HUMAN	FNTB	HGNC	Q86TX8_HUMAN,B4DJ86_HUMAN,B3KSC2_HUMAN	.	UPI0000111EF4	SNV	FNTB,missense_variant,p.Val442Gly,ENST00000447296,;CHURC1-FNTB,missense_variant,p.Val443Gly,ENST00000549987,;FNTB,missense_variant,p.Val408Gly,ENST00000246166,;FNTB,missense_variant,p.Val362Gly,ENST00000542227,;MAX,intron_variant,,ENST00000341653,;CHURC1-FNTB,3_prime_UTR_variant,,ENST00000552941,;FNTB,non_coding_transcript_exon_variant,,ENST00000557300,;FNTB,non_coding_transcript_exon_variant,,ENST00000554334,;	1457	166	134	SUCCESS
PLEKHH1	57475	.	GRCh37	14	68038976	68038976	+	synonymous_variant	Silent	SNP	C	C	T	rs374729550	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	35	0	ENST00000329153.5:c.1710C>T	p.Asp570=	p.D570=	ENST00000329153	NM_020715.2	570	gaC/gaT	0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS45128.1	1710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGACGGGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903	T:0	T:0.0007	ENSP00000330278	T:0	11/29	.	.	.	.	.	.	.	.	rs374729550	11/29	common_in_exac	ENST00000329153	Transcript	.	T:0.0002	ENSG00000054690	17733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	PKHH1_HUMAN	PLEKHH1	HGNC	B3KWD2_HUMAN	.	UPI00001C1F64	SNV	PLEKHH1,synonymous_variant,p.%3D,ENST00000329153,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000561456,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000561135,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558981,;	1842	35	31	SUCCESS
ZFP36L1	677	.	GRCh37	14	69256435	69256435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	32	88	0	ENST00000336440.3:c.832C>A	p.Leu278Ile	p.L278I	ENST00000336440		278	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS9791.1	832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGGAAGG	NONE	.	.	hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF53	.	.	ENSP00000388402	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	tolerated(0.36)	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,missense_variant,p.Leu278Ile,ENST00000336440,;ZFP36L1,missense_variant,p.Leu278Ile,ENST00000439696,;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,;ZFP36L1,downstream_gene_variant,,ENST00000557022,;ZFP36L1,downstream_gene_variant,,ENST00000553375,;ZFP36L1,downstream_gene_variant,,ENST00000557086,;	1134	88	57	SUCCESS
VRTN	55237	.	GRCh37	14	74825421	74825421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	44	114	0	ENST00000256362.4:c.1935G>T	p.Met645Ile	p.M645I	ENST00000256362	NM_018228.2	645	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS9830.1	1935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGATCGC	NONE	.	.	hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081	.	.	ENSP00000256362	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000256362	Transcript	.	.	ENSG00000133980	20223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.07)	.	VRTN_HUMAN	VRTN	HGNC	G3V537_HUMAN	.	UPI00000737D5	SNV	VRTN,missense_variant,p.Met645Ile,ENST00000256362,;VRTN,downstream_gene_variant,,ENST00000557177,;	2176	114	116	SUCCESS
SAMD15	161394	.	GRCh37	14	77843998	77843998	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	50	119	0	ENST00000216471.4:c.237T>A	p.Pro79=	p.P79=	ENST00000216471	NM_001010860.1	79	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32126.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCTGGCGG	NONE	.	.	hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF55	.	.	ENSP00000216471	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000216471	Transcript	.	.	ENSG00000100583	18631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAM15_HUMAN	SAMD15	HGNC	G3V2Z3_HUMAN	.	UPI0000072F0E	SNV	SAMD15,synonymous_variant,p.%3D,ENST00000216471,;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,;	523	119	118	SUCCESS
CATSPERB	79820	.	GRCh37	14	92126218	92126218	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	51	0	ENST00000256343.3:c.1395T>C	p.Phe465=	p.F465=	ENST00000256343	NM_024764.2	465	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS32142.1	1395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACAAAAGT	NONE	.	.	hmmpanther:PTHR14705	.	.	ENSP00000256343	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000256343	Transcript	.	.	ENSG00000133962	20500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTSRB_HUMAN	CATSPERB	HGNC	G3V584_HUMAN,G3V352_HUMAN	.	UPI0000418DA1	SNV	CATSPERB,synonymous_variant,p.%3D,ENST00000256343,;CATSPERB,intron_variant,,ENST00000557036,;	1552	51	31	SUCCESS
UNC79	57578	.	GRCh37	14	94046694	94046694	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	48	95	0	ENST00000393151.2:c.2633T>A	p.Leu878Gln	p.L878Q	ENST00000393151		878	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS9911.2	2102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACTAGCTC	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	19/50	.	.	.	.	.	.	.	.	.	19/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Leu878Gln,ENST00000393151,;UNC79,missense_variant,p.Leu701Gln,ENST00000256339,;UNC79,missense_variant,p.Leu878Gln,ENST00000553484,;UNC79,missense_variant,p.Leu878Gln,ENST00000555664,;	2757	95	96	SUCCESS
SERPINA1	5265	.	GRCh37	14	94845669	94845669	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	19	0	ENST00000355814.4:c.1065+132A>T		p.*355*	ENST00000355814	NM_001002235.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9925.1	.	MUTECT|MUSE	.	GGGCATCTTCA	NONE	.	.	.	.	.	ENSP00000416066	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000448921	Transcript	1	.	ENSG00000197249	8941	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	A1AT_HUMAN	SERPINA1	HGNC	Q3I0J7_HUMAN,G3V5R8_HUMAN,G3V544_HUMAN,G3V4I7_HUMAN,G3V387_HUMAN,G3V2B9_HUMAN,E9KL23_HUMAN,A6YP93_HUMAN	.	UPI000000CBEC	SNV	SERPINA1,3_prime_UTR_variant,,ENST00000402629,;SERPINA1,intron_variant,,ENST00000448921,;SERPINA1,intron_variant,,ENST00000449399,;SERPINA1,intron_variant,,ENST00000355814,;SERPINA1,intron_variant,,ENST00000404814,;SERPINA1,intron_variant,,ENST00000393088,;SERPINA1,intron_variant,,ENST00000393087,;SERPINA1,intron_variant,,ENST00000437397,;SERPINA1,intron_variant,,ENST00000440909,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,intron_variant,,ENST00000489769,;	.	19	36	SUCCESS
DICER1	23405	.	GRCh37	14	95560494	95560494	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	55	0	ENST00000343455.3:c.5096-1G>T		p.X1699_splice	ENST00000343455	NM_177438.2	1699		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9931.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATCTGAGG	NONE	.	.	.	.	.	ENSP00000437256	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000526495	Transcript	1	.	ENSG00000100697	17098	.	.	HIGH	25/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DICER_HUMAN	DICER1	HGNC	Q5D0K5_HUMAN,B3KMJ0_HUMAN	.	UPI0000168662	SNV	DICER1,splice_acceptor_variant,,ENST00000343455,;DICER1,splice_acceptor_variant,,ENST00000541352,;DICER1,splice_acceptor_variant,,ENST00000527414,;DICER1,splice_acceptor_variant,,ENST00000526495,;DICER1,splice_acceptor_variant,,ENST00000556045,;DICER1,splice_acceptor_variant,,ENST00000393063,;DICER1,downstream_gene_variant,,ENST00000532939,;DICER1,upstream_gene_variant,,ENST00000527416,;DICER1,upstream_gene_variant,,ENST00000527554,;	.	55	45	SUCCESS
BDKRB2	624	.	GRCh37	14	96707662	96707662	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201791629	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	110	0	ENST00000554311.1:c.997G>T	p.Val333Leu	p.V333L	ENST00000554311		333	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS9942.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACGTGATC	NONE	byFrequency|byCluster	.	Prints_domain:PR00425,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24228:SF25,hmmpanther:PTHR24228,Transmembrane_helices:TMhelix	.	.	ENSP00000307713	.	3/3	.	.	.	.	.	.	.	.	rs201791629	3/3	PASS	ENST00000306005	Transcript	.	.	ENSG00000168398	1030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.561)	.	deleterious(0)	.	BKRB2_HUMAN	BDKRB2	HGNC	.	.	UPI00000503EB	SNV	BDKRB2,missense_variant,p.Val333Leu,ENST00000554311,;BDKRB2,missense_variant,p.Val306Leu,ENST00000542454,;BDKRB2,missense_variant,p.Val333Leu,ENST00000306005,;BDKRB2,missense_variant,p.Val306Leu,ENST00000539359,;RP11-404P21.8,intron_variant,,ENST00000553811,;RP11-404P21.8,upstream_gene_variant,,ENST00000555847,;	1193	110	92	SUCCESS
SETD3	84193	.	GRCh37	14	99865385	99865385	+	synonymous_variant	Silent	SNP	T	T	C	rs770417041	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	51	137	0	ENST00000331768.5:c.1416A>G	p.Lys472=	p.K472=	ENST00000331768	NM_032233.2	472	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS9951.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTTTCTC	NONE	.	.	PROSITE_profiles:PS51565,hmmpanther:PTHR13271,hmmpanther:PTHR13271:SF8,Pfam_domain:PF09273,Gene3D:2h21A02,Superfamily_domains:0040997	.	.	ENSP00000327436	.	13/13	.	.	.	.	.	.	.	.	rs770417041	13/13	PASS	ENST00000331768	Transcript	.	.	ENSG00000183576	20493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD3_HUMAN	SETD3	HGNC	.	.	UPI000000CC6D	SNV	SETD3,synonymous_variant,p.%3D,ENST00000331768,;SETD3,3_prime_UTR_variant,,ENST00000446066,;SETD3,non_coding_transcript_exon_variant,,ENST00000489770,;	1576	137	129	SUCCESS
ALDH1A3	220	.	GRCh37	15	101438327	101438327	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	18	167	1	ENST00000329841.5:c.820C>T	p.Leu274=	p.L274=	ENST00000329841	NM_000693.2	274	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10389.1	820	RADIA|MUTECT|MUSE|VARSCANS	.	GCAATCTGAAG	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF154,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720	.	.	ENSP00000332256	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000329841	Transcript	1	.	ENSG00000184254	409	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AL1A3_HUMAN	ALDH1A3	HGNC	.	.	UPI00001AFAF8	SNV	ALDH1A3,synonymous_variant,p.%3D,ENST00000346623,;ALDH1A3,synonymous_variant,p.%3D,ENST00000329841,;RP11-66B24.4,intron_variant,,ENST00000560351,;ALDH1A3,non_coding_transcript_exon_variant,,ENST00000558869,;ALDH1A3,downstream_gene_variant,,ENST00000558033,;	1352	168	143	SUCCESS
LRRK1	79705	.	GRCh37	15	101523888	101523888	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775524685	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	80	0	ENST00000388948.3:c.417G>T	p.Leu139Phe	p.L139F	ENST00000388948	NM_024652.3	139	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS42086.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGCTTGA	NONE	.	.	PROSITE_profiles:PS50297,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000373600	.	4/34	.	.	.	.	.	.	.	.	rs775524685,COSM3815664,COSM3815665,COSM3815663	4/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(1)	.	deleterious(0.04)	0,1,1,1	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Leu139Phe,ENST00000388948,;LRRK1,missense_variant,p.Leu112Phe,ENST00000284395,;LRRK1,missense_variant,p.Leu139Phe,ENST00000532029,;LRRK1,missense_variant,p.Leu139Phe,ENST00000531270,;LRRK1,missense_variant,p.Leu139Phe,ENST00000525284,;	776	80	60	SUCCESS
LRRK1	79705	.	GRCh37	15	101595197	101595197	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	53	141	0	ENST00000388948.3:c.4101C>A	p.Ala1367=	p.A1367=	ENST00000388948	NM_024652.3	1367	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42086.1	4101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCCTACCA	NONE	.	.	PROSITE_profiles:PS50011,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000373600	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,synonymous_variant,p.%3D,ENST00000388948,;LRRK1,synonymous_variant,p.%3D,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,upstream_gene_variant,,ENST00000525395,;LRRK1,synonymous_variant,p.%3D,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;	4460	141	118	SUCCESS
HERC2P3	283755	.	GRCh37	15	20662695	20662695	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	106	0	ENST00000428453.1:n.1409T>A		p.*470*	ENST00000428453				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUSE|VARSCANS	.	ATCTCAAACGT	NONE	.	.	.	.	.	.	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,downstream_gene_variant,,ENST00000412154,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,downstream_gene_variant,,ENST00000414804,;HERC2P3,upstream_gene_variant,,ENST00000426501,;HERC2P3,upstream_gene_variant,,ENST00000440441,;HERC2P3,upstream_gene_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000429926,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1409	106	107	SUCCESS
NPAP1	23742	.	GRCh37	15	24921224	24921224	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	36	0	ENST00000329468.2:c.210G>T	p.Arg70Ser	p.R70S	ENST00000329468	NM_018958.2	70	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS10015.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGCCGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	deleterious(0.01)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Arg70Ser,ENST00000329468,;	684	36	42	SUCCESS
NPAP1	23742	.	GRCh37	15	24921716	24921716	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	30	53	0	ENST00000329468.2:c.702G>A	p.Leu234=	p.L234=	ENST00000329468	NM_018958.2	234	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10015.1	702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTGGAAGG	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,synonymous_variant,p.%3D,ENST00000329468,;	1176	53	57	SUCCESS
GABRA5	2558	.	GRCh37	15	27114454	27114454	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	42	129	0	ENST00000335625.5:c.59T>A	p.Ile20Asn	p.I20N	ENST00000335625	NM_000810.3	20	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS45194.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTATTTCCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Prints_domain:PR01618	.	.	ENSP00000335592	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious_low_confidence(0.01)	.	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,missense_variant,p.Ile20Asn,ENST00000355395,;GABRA5,missense_variant,p.Ile20Asn,ENST00000554038,;GABRA5,missense_variant,p.Ile20Asn,ENST00000335625,;GABRA5,missense_variant,p.Ile20Asn,ENST00000554596,;GABRA5,missense_variant,p.Ile20Asn,ENST00000554599,;GABRA5,missense_variant,p.Ile20Asn,ENST00000400081,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,intron_variant,,ENST00000555182,;GABRA5,downstream_gene_variant,,ENST00000555060,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557484,;	947	129	124	SUCCESS
MTMR10	54893	.	GRCh37	15	31233790	31233790	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	90	2	ENST00000435680.1:c.2217T>C	p.Phe739=	p.F739=	ENST00000435680	NM_017762.2	739	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS45204.1	2217	SOMATICSNIPER|VARSCANS	.	AATGGAAATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10807:SF39,hmmpanther:PTHR10807	.	.	ENSP00000402537	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000435680	Transcript	.	.	ENSG00000166912	25999	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTMRA_HUMAN	MTMR10	HGNC	B4E157_HUMAN	.	UPI00001FE130	SNV	MTMR10,synonymous_variant,p.%3D,ENST00000435680,;MTMR10,3_prime_UTR_variant,,ENST00000425768,;FAN1,3_prime_UTR_variant,,ENST00000362065,;MTMR10,intron_variant,,ENST00000314404,;MTMR10,downstream_gene_variant,,ENST00000566981,;MTMR10,downstream_gene_variant,,ENST00000563714,;FAN1,3_prime_UTR_variant,,ENST00000565280,;MTMR10,3_prime_UTR_variant,,ENST00000567567,;MTMR10,3_prime_UTR_variant,,ENST00000568604,;MTMR10,non_coding_transcript_exon_variant,,ENST00000566338,;MTMR10,intron_variant,,ENST00000568547,;	2315	92	83	SUCCESS
CHRM5	1133	.	GRCh37	15	34355220	34355220	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	50	156	0	ENST00000383263.5:c.302T>G	p.Leu101Arg	p.L101R	ENST00000383263	NM_012125.3	101	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS10031.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCTGGCTT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF58,PROSITE_profiles:PS50262	.	.	ENSP00000372750	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000383263	Transcript	.	.	ENSG00000184984	1954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ACM5_HUMAN	CHRM5	HGNC	H0YKC0_HUMAN	.	UPI0000050412	SNV	CHRM5,missense_variant,p.Leu101Arg,ENST00000383263,;CHRM5,missense_variant,p.Leu101Arg,ENST00000557872,;CHRM5,downstream_gene_variant,,ENST00000560035,;	972	156	129	SUCCESS
NOP10	55505	.	GRCh37	15	34635325	34635325	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs757349587	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	53	99	0	ENST00000328848.4:c.-51A>G		p.*17*	ENST00000328848	NM_018648.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10037.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGTGGTCC	NONE	.	.	.	.	.	ENSP00000332198	.	1/2	.	.	.	.	.	.	.	.	rs757349587	1/2	PASS	ENST00000328848	Transcript	1	.	ENSG00000182117	14378	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOP10_HUMAN	NOP10	HGNC	.	.	UPI0000022AEE	SNV	NOP10,5_prime_UTR_variant,,ENST00000328848,;NUTM1,upstream_gene_variant,,ENST00000537011,;NUTM1,upstream_gene_variant,,ENST00000333756,;NUTM1,upstream_gene_variant,,ENST00000438749,;NOP10,upstream_gene_variant,,ENST00000557912,;	54	99	116	SUCCESS
GJD2	57369	.	GRCh37	15	35045130	35045130	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763718869	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	62	219	1	ENST00000290374.4:c.515A>G	p.Lys172Arg	p.K172R	ENST00000290374	NM_020660.2	172	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10040.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTTAACC	NONE	.	.	hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984	.	.	ENSP00000290374	.	2/2	.	.	.	.	.	.	.	.	rs763718869	2/2	PASS	ENST00000290374	Transcript	.	.	ENSG00000159248	19154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.376)	.	tolerated(0.08)	.	CXD2_HUMAN	GJD2	HGNC	.	.	UPI00001287E3	SNV	GJD2,missense_variant,p.Lys172Arg,ENST00000290374,;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	992	220	156	SUCCESS
DPH6	89978	.	GRCh37	15	35830633	35830633	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	64	137	0	ENST00000256538.4:c.154A>T	p.Thr52Ser	p.T52S	ENST00000256538	NM_080650.3	52	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS10043.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTCTGAT	NONE	.	.	hmmpanther:PTHR12196,Pfam_domain:PF01902,TIGRFAM_domain:TIGR00290,Gene3D:3.40.50.620,Superfamily_domains:SSF52402	.	.	ENSP00000256538	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000256538	Transcript	.	.	ENSG00000134146	30543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	tolerated(0.21)	.	DPH6_HUMAN	DPH6	HGNC	H0YND7_HUMAN	.	UPI000007296C	SNV	DPH6,missense_variant,p.Thr52Ser,ENST00000256538,;DPH6,missense_variant,p.Thr4Ser,ENST00000561411,;DPH6,missense_variant,p.Thr52Ser,ENST00000440392,;DPH6,non_coding_transcript_exon_variant,,ENST00000559585,;DPH6,non_coding_transcript_exon_variant,,ENST00000559784,;DPH6,non_coding_transcript_exon_variant,,ENST00000560526,;	181	137	147	SUCCESS
FAM98B	283742	.	GRCh37	15	38773693	38773693	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	57	143	0	ENST00000491535.1:c.930A>C	p.Glu310Asp	p.E310D	ENST00000491535	NM_001042429.1	310	gaA/gaC	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10047.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAATTGAT	NONE	.	.	.	.	.	ENSP00000380734	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397609	Transcript	.	.	ENSG00000171262	26773	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA98B_HUMAN	FAM98B	HGNC	.	.	UPI0000DA182F	SNV	FAM98B,missense_variant,p.Glu310Asp,ENST00000491535,;FAM98B,intron_variant,,ENST00000397609,;FAM98B,intron_variant,,ENST00000559431,;	.	143	143	SUCCESS
STRC	161497	.	GRCh37	15	43897534	43897534	+	synonymous_variant	Silent	SNP	T	T	C	rs748042565	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	403	11	474	0	ENST00000450892.2:c.3858A>G	p.Arg1286=	p.R1286=	ENST00000450892	NM_153700.2	1286	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS10098.1	3858	MUTECT|MUSE	.	GGAGCTCTTTG	NONE	.	.	hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412	.	.	ENSP00000401513	.	19/29	.	.	.	.	.	.	.	.	rs748042565	19/29	PASS	ENST00000450892	Transcript	1	.	ENSG00000242866	16035	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STRC_HUMAN	STRC	HGNC	E7EPM8_HUMAN	.	UPI000013E60F	SNV	STRC,synonymous_variant,p.%3D,ENST00000541030,;STRC,synonymous_variant,p.%3D,ENST00000450892,;RNU6-554P,downstream_gene_variant,,ENST00000410466,;CKMT1B,downstream_gene_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000455136,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,intron_variant,,ENST00000448437,;STRC,intron_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000460952,;STRC,upstream_gene_variant,,ENST00000493750,;	3936	474	414	SUCCESS
FRMD5	84978	.	GRCh37	15	44202176	44202176	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	58	1	ENST00000417257.1:c.331T>A	p.Tyr111Asn	p.Y111N	ENST00000417257	NM_032892.3	111	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS10107.2	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATACCTGG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000403067	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000417257	Transcript	.	.	ENSG00000171877	28214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FRMD5_HUMAN	FRMD5	HGNC	A8K1U8_HUMAN	.	UPI00001A9475	SNV	FRMD5,missense_variant,p.Tyr111Asn,ENST00000417257,;FRMD5,missense_variant,p.Tyr111Asn,ENST00000402883,;FRMD5,missense_variant,p.Tyr16Asn,ENST00000558108,;FRMD5,missense_variant,p.Tyr22Asn,ENST00000484674,;FRMD5,missense_variant,p.Tyr77Asn,ENST00000449926,;FRMD5,missense_variant,p.Tyr111Asn,ENST00000451277,;FRMD5,splice_region_variant,,ENST00000458630,;FRMD5,splice_region_variant,,ENST00000421674,;FRMD5,upstream_gene_variant,,ENST00000479319,;	508	59	42	SUCCESS
GATM	2628	.	GRCh37	15	45668899	45668899	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	89	0	ENST00000396659.3:c.188A>C	p.Asp63Ala	p.D63A	ENST00000396659	NM_001482.2	63	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS10122.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTCCTTG	NONE	.	.	hmmpanther:PTHR10488	.	.	ENSP00000379895	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000396659	Transcript	1	.	ENSG00000171766	4175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.64)	.	GATM_HUMAN	GATM	HGNC	H0YN43_HUMAN,H0YLC6_HUMAN,H0YKW9_HUMAN	.	UPI0000111EFD	SNV	GATM,missense_variant,p.Asp63Ala,ENST00000558336,;GATM,missense_variant,p.Asp63Ala,ENST00000396659,;GATM,5_prime_UTR_variant,,ENST00000559885,;GATM,5_prime_UTR_variant,,ENST00000561148,;GATM,5_prime_UTR_variant,,ENST00000558537,;GATM,intron_variant,,ENST00000558163,;GATM,non_coding_transcript_exon_variant,,ENST00000560538,;GATM,downstream_gene_variant,,ENST00000458245,;GATM,downstream_gene_variant,,ENST00000527933,;GATM,missense_variant,p.Asp63Ala,ENST00000558118,;GATM,non_coding_transcript_exon_variant,,ENST00000558362,;	528	89	93	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45694903	45694903	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	9	0	ENST00000305560.6:c.276G>C	p.Arg92Ser	p.R92S	ENST00000305560	NM_024063.2	92	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS10123.1	276	RADIA|MUTECT|MUSE	.	CGGAGGAGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077	.	.	ENSP00000305494	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	.	tolerated(0.72)	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,missense_variant,p.Arg92Ser,ENST00000305560,;SPATA5L1,missense_variant,p.Arg92Ser,ENST00000559860,;GATM,upstream_gene_variant,,ENST00000561148,;GATM,upstream_gene_variant,,ENST00000458245,;SPATA5L1,missense_variant,p.Arg92Ser,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000525552,;	375	9	12	SUCCESS
FBN1	2200	.	GRCh37	15	48741033	48741033	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145082616	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	52	0	ENST00000316623.5:c.5603C>A	p.Thr1868Lys	p.T1868K	ENST00000316623	NM_000138.4	1868	aCa/aAa	0	A:0.0002	A:0.0008	.	A:0	.	T	T/K	protein_coding	YES	CCDS32232.1	5603	MUTECT|MUSE|VARSCANS	.	CAACTGTGTCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57184	A:0	A:0	ENSP00000325527	A:0	46/66	.	.	.	.	.	.	.	.	rs145082616	46/66	PASS	ENST00000316623	Transcript	1	A:0.0002	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.624)	A:0	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Thr1868Lys,ENST00000316623,;FBN1,missense_variant,p.Thr304Lys,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000560820,;	6059	52	61	SUCCESS
GABPB1	2553	.	GRCh37	15	50578223	50578223	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	42	120	0	ENST00000220429.8:c.1035+42A>T		p.*345*	ENST00000220429				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32239.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTGGATG	NONE	.	.	.	.	.	ENSP00000220429	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000220429	Transcript	.	.	ENSG00000104064	4074	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GABP1_HUMAN	GABPB1	HGNC	H0YNZ0_HUMAN,F5H7I4_HUMAN	.	UPI000012AFB3	SNV	GABPB1,synonymous_variant,p.%3D,ENST00000560825,;GABPB1,synonymous_variant,p.%3D,ENST00000429662,;GABPB1,synonymous_variant,p.%3D,ENST00000359031,;GABPB1,synonymous_variant,p.%3D,ENST00000396464,;GABPB1,intron_variant,,ENST00000380877,;GABPB1,intron_variant,,ENST00000220429,;GABPB1,intron_variant,,ENST00000543881,;GABPB1,intron_variant,,ENST00000561010,;	.	120	98	SUCCESS
PRTG	283659	.	GRCh37	15	55971629	55971629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	84	0	ENST00000389286.4:c.988G>T	p.Val330Phe	p.V330F	ENST00000389286	NM_173814.4	330	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS42040.1	988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAACAAATG	NONE	.	.	Superfamily_domains:SSF48726,Superfamily_domains:SSF48726,Pfam_domain:PF07679,hmmpanther:PTHR10489:SF20,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	.	.	ENSP00000373937	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	tolerated(0.06)	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,missense_variant,p.Val330Phe,ENST00000389286,;PRTG,upstream_gene_variant,,ENST00000561465,;RP11-420M1.2,upstream_gene_variant,,ENST00000561155,;PRTG,non_coding_transcript_exon_variant,,ENST00000559842,;	1036	84	95	SUCCESS
CLN6	54982	.	GRCh37	15	68504126	68504126	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772893554	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	25	92	0	ENST00000249806.5:c.373A>T	p.Ser125Cys	p.S125C	ENST00000249806	NM_017882.2	125	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS10227.1	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTGGCAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16244,Pfam_domain:PF15156	.	.	ENSP00000249806	.	4/7	.	.	.	.	.	.	.	.	rs772893554	4/7	PASS	ENST00000249806	Transcript	1	.	ENSG00000128973	2077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CLN6_HUMAN	CLN6	HGNC	.	.	UPI000006D91F	SNV	CLN6,missense_variant,p.Ser157Cys,ENST00000538696,;CLN6,missense_variant,p.Ser125Cys,ENST00000564752,;CLN6,missense_variant,p.Ser125Cys,ENST00000249806,;CLN6,intron_variant,,ENST00000565471,;RP11-315D16.2,intron_variant,,ENST00000562767,;CLN6,intron_variant,,ENST00000566347,;CLN6,intron_variant,,ENST00000418702,;CLN6,non_coding_transcript_exon_variant,,ENST00000563917,;CLN6,intron_variant,,ENST00000567060,;CLN6,downstream_gene_variant,,ENST00000564846,;	531	92	50	SUCCESS
ITGA11	22801	.	GRCh37	15	68609680	68609680	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs546078018	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	119	0	ENST00000315757.7:c.2638G>T	p.Glu880Ter	p.E880*	ENST00000315757	NM_001004439.1	880	Gag/Tag	0	.	T:0	.	T:0	.	A	E/*	protein_coding	YES	CCDS45291.1	2638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCAATGC	NONE	by1000G	.	hmmpanther:PTHR23220:SF21,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179	T:0.001	.	ENSP00000327290	T:0	21/30	.	.	.	.	.	.	.	.	rs546078018	21/30	PASS	ENST00000315757	Transcript	.	T:0.0002	ENSG00000137809	6136	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ITA11_HUMAN	ITGA11	HGNC	.	.	UPI00001FE74D	SNV	ITGA11,stop_gained,p.Glu880Ter,ENST00000315757,;ITGA11,stop_gained,p.Glu880Ter,ENST00000423218,;	2725	119	90	SUCCESS
NEO1	4756	.	GRCh37	15	73564819	73564819	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	114	0	ENST00000261908.6:c.2881G>C	p.Val961Leu	p.V961L	ENST00000261908	NM_002499.3	961	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS10247.1	2881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGTGACT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000341198	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.42)	.	tolerated(1)	.	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,missense_variant,p.Val961Leu,ENST00000261908,;NEO1,missense_variant,p.Val961Leu,ENST00000558964,;NEO1,missense_variant,p.Val961Leu,ENST00000339362,;NEO1,missense_variant,p.Val641Leu,ENST00000560328,;NEO1,missense_variant,p.Val961Leu,ENST00000560262,;	3328	114	90	SUCCESS
ISLR2	57611	.	GRCh37	15	74426996	74426996	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1567164849	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	105	0	ENST00000361742.3:c.1901C>G	p.Pro634Arg	p.P634R	ENST00000361742	NM_001130136.1	634	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS10259.1	1901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCTGACC	NONE	.	.	hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366	.	.	ENSP00000355402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361742	Transcript	.	.	ENSG00000167178	29286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	deleterious(0.02)	.	ISLR2_HUMAN	ISLR2	HGNC	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN	.	UPI000004C60F	SNV	ISLR2,missense_variant,p.Pro634Arg,ENST00000565540,;ISLR2,missense_variant,p.Pro634Arg,ENST00000445793,;ISLR2,missense_variant,p.Pro634Arg,ENST00000453268,;ISLR2,missense_variant,p.Pro634Arg,ENST00000361742,;ISLR2,missense_variant,p.Pro634Arg,ENST00000419208,;ISLR2,missense_variant,p.Pro634Arg,ENST00000435464,;ISLR2,missense_variant,p.Pro634Arg,ENST00000565159,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	2670	105	85	SUCCESS
PSMA4	5685	.	GRCh37	15	78837269	78837269	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	117	0	ENST00000044462.7:c.346G>A	p.Asp116Asn	p.D116N	ENST00000044462	NM_002789.4	116	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10303.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGATATC	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599:SF13,hmmpanther:PTHR11599,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235	.	.	ENSP00000044462	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000044462	Transcript	.	.	ENSG00000041357	9533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	tolerated(0.15)	.	PSA4_HUMAN	PSMA4	HGNC	Q7Z474_HUMAN,H0YMZ1_HUMAN,H0YMA1_HUMAN,H0YL69_HUMAN,H0YKT8_HUMAN	.	UPI000000DC2A	SNV	PSMA4,missense_variant,p.Asp116Asn,ENST00000044462,;PSMA4,missense_variant,p.Asp116Asn,ENST00000560737,;PSMA4,missense_variant,p.Asp92Asn,ENST00000559948,;PSMA4,missense_variant,p.Asp28Asn,ENST00000558094,;PSMA4,missense_variant,p.Asp116Asn,ENST00000559365,;PSMA4,missense_variant,p.Asp90Asn,ENST00000559146,;PSMA4,missense_variant,p.Asp28Asn,ENST00000559154,;PSMA4,missense_variant,p.Asp45Asn,ENST00000413382,;PSMA4,missense_variant,p.Asp116Asn,ENST00000558281,;PSMA4,missense_variant,p.Asp116Asn,ENST00000559082,;PSMA4,missense_variant,p.Asp116Asn,ENST00000559437,;PSMA4,missense_variant,p.Asp85Asn,ENST00000560217,;PSMA4,intron_variant,,ENST00000558341,;PSMA4,non_coding_transcript_exon_variant,,ENST00000557929,;PSMA4,non_coding_transcript_exon_variant,,ENST00000559906,;PSMA4,non_coding_transcript_exon_variant,,ENST00000559934,;PSMA4,non_coding_transcript_exon_variant,,ENST00000560099,;PSMA4,non_coding_transcript_exon_variant,,ENST00000558639,;PSMA4,downstream_gene_variant,,ENST00000558635,;PSMA4,downstream_gene_variant,,ENST00000560033,;PSMA4,downstream_gene_variant,,ENST00000560842,;	496	117	91	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79080627	79080627	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	108	1	ENST00000388820.4:c.1268C>T	p.Ala423Val	p.A423V	ENST00000388820	NM_014272.3	423	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32303.1	1268	RADIA|MUTECT|MUSE	.	GAGCGGCGTCG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000373472	.	8/24	.	.	.	.	.	.	.	.	COSM1708440	8/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.41)	.	deleterious(0.02)	1	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,missense_variant,p.Ala423Val,ENST00000388820,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	1479	109	72	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79080629	79080629	+	synonymous_variant	Silent	SNP	G	G	A	rs767090976	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	108	1	ENST00000388820.4:c.1266C>T	p.Asp422=	p.D422=	ENST00000388820	NM_014272.3	422	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS32303.1	1266	RADIA|MUTECT|MUSE	.	GCGGCGTCGTA	NONE	byFrequency	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000373472	.	8/24	.	.	.	.	.	.	.	.	rs767090976	8/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,synonymous_variant,p.%3D,ENST00000388820,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	1477	109	73	SUCCESS
CPEB1	64506	.	GRCh37	15	83226572	83226572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	149	1	ENST00000568128.1:c.544A>T	p.Ser182Cys	p.S182C	ENST00000568128	NM_030594.3	182	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS45329.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGCTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12566	.	.	ENSP00000457881	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000568128	Transcript	.	.	ENSG00000214575	21744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CPEB1_HUMAN	CPEB1	HGNC	H3BPD6_HUMAN,H3BNX1_HUMAN,G8JLI7_HUMAN	.	UPI000018CEBD	SNV	CPEB1,missense_variant,p.Ser107Cys,ENST00000564522,;CPEB1,missense_variant,p.Ser182Cys,ENST00000568128,;CPEB1,missense_variant,p.Ser107Cys,ENST00000568757,;CPEB1,missense_variant,p.Ser185Cys,ENST00000261723,;CPEB1,missense_variant,p.Ser107Cys,ENST00000398591,;CPEB1,missense_variant,p.Ser182Cys,ENST00000562019,;CPEB1,missense_variant,p.Ser209Cys,ENST00000563800,;CPEB1,missense_variant,p.Ser107Cys,ENST00000568994,;CPEB1,missense_variant,p.Ser107Cys,ENST00000450751,;CPEB1,missense_variant,p.Ser107Cys,ENST00000423133,;CPEB1,intron_variant,,ENST00000398592,;RP11-379H8.1,intron_variant,,ENST00000568285,;RP11-152F13.10,upstream_gene_variant,,ENST00000562833,;CPEB1,non_coding_transcript_exon_variant,,ENST00000570205,;CPEB1,intron_variant,,ENST00000570229,;CPEB1,upstream_gene_variant,,ENST00000569015,;	651	150	111	SUCCESS
NTRK3	4916	.	GRCh37	15	88472454	88472454	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	66	185	0	ENST00000360948.2:c.2101T>A	p.Ser701Thr	p.S701T	ENST00000360948	NM_001012338.2	701	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS32322.1	2101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGACATGC	BUFFER|p.F698F|c.2094C>T|3,BUFFER|p.F698F|c.2094C>T|3	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000354207	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.Ser693Thr,ENST00000558676,;NTRK3,missense_variant,p.Ser98Thr,ENST00000558576,;NTRK3,missense_variant,p.Ser693Thr,ENST00000557856,;NTRK3,missense_variant,p.Ser701Thr,ENST00000394480,;NTRK3,missense_variant,p.Ser603Thr,ENST00000542733,;NTRK3,missense_variant,p.Ser693Thr,ENST00000357724,;NTRK3,missense_variant,p.Ser701Thr,ENST00000355254,;NTRK3,missense_variant,p.Ser701Thr,ENST00000360948,;NTRK3,downstream_gene_variant,,ENST00000559680,;	2263	185	153	SUCCESS
WDR93	56964	.	GRCh37	15	90272996	90272996	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	128	0	ENST00000268130.7:c.1206A>G	p.Lys402=	p.K402=	ENST00000268130	NM_020212.1	402	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS32326.1	1206	MUTECT|MUSE	.	GATAAAGCTGG	NONE	.	.	Superfamily_domains:SSF50978,hmmpanther:PTHR12219,hmmpanther:PTHR12219:SF14	.	.	ENSP00000268130	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000268130	Transcript	.	.	ENSG00000140527	26924	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR93_HUMAN	WDR93	HGNC	H0YL01_HUMAN,B4DXL7_HUMAN	.	UPI00001D77A7	SNV	WDR93,synonymous_variant,p.%3D,ENST00000560294,;WDR93,synonymous_variant,p.%3D,ENST00000268130,;WDR93,synonymous_variant,p.%3D,ENST00000444934,;WDR93,downstream_gene_variant,,ENST00000557825,;	1307	128	89	SUCCESS
FURIN	5045	.	GRCh37	15	91423153	91423153	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	49	158	0	ENST00000268171.3:c.1315C>T	p.Gln439Ter	p.Q439*	ENST00000268171	NM_002569.2	439	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10364.1	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCAGAAT	NONE	.	.	Superfamily_domains:SSF52743,Superfamily_domains:SSF49785,Gene3D:3.40.50.200,hmmpanther:PTHR10795:SF325,hmmpanther:PTHR10795	.	.	ENSP00000268171	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,stop_gained,p.Gln439Ter,ENST00000268171,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000394302,;FES,upstream_gene_variant,,ENST00000559355,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000328850,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FURIN,downstream_gene_variant,,ENST00000559353,;FURIN,stop_gained,p.Gln196Ter,ENST00000558794,;FURIN,non_coding_transcript_exon_variant,,ENST00000560018,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	1594	158	110	SUCCESS
ERCC4	2072	.	GRCh37	16	14020498	14020498	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	81	0	ENST00000311895.7:c.469A>T	p.Lys157Ter	p.K157*	ENST00000311895	NM_005236.2	157	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS32390.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAAACGT	NONE	.	.	hmmpanther:PTHR10150,TIGRFAM_domain:TIGR00596	.	.	ENSP00000310520	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000311895	Transcript	.	.	ENSG00000175595	3436	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPF_HUMAN	ERCC4	HGNC	B4DXD8_HUMAN	.	UPI0000161BBF	SNV	ERCC4,stop_gained,p.Lys157Ter,ENST00000311895,;ERCC4,stop_gained,p.Lys157Ter,ENST00000575156,;CTD-2135D7.2,downstream_gene_variant,,ENST00000575137,;CTD-2135D7.2,downstream_gene_variant,,ENST00000570663,;ERCC4,upstream_gene_variant,,ENST00000574781,;ERCC4,stop_gained,p.Lys31Ter,ENST00000574194,;ERCC4,non_coding_transcript_exon_variant,,ENST00000576348,;RPS26P52,upstream_gene_variant,,ENST00000463867,;	478	81	72	SUCCESS
MKL2	0	.	GRCh37	16	14341108	14341108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	93	0	ENST00000318282.5:c.1991C>T	p.Pro664Leu	p.P664L	ENST00000318282		664	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32391.1	1991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCGTCT	NONE	.	.	hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793	.	.	ENSP00000339086	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000318282	Transcript	.	.	ENSG00000186260	29819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	tolerated(0.05)	.	MKL2_HUMAN	MKL2	HGNC	I3L0U1_HUMAN	.	UPI0000225CCB	SNV	MKL2,missense_variant,p.Pro664Leu,ENST00000318282,;MKL2,missense_variant,p.Pro653Leu,ENST00000341243,;MKL2,missense_variant,p.Pro664Leu,ENST00000571589,;MKL2,missense_variant,p.Pro664Leu,ENST00000574045,;MKL2,upstream_gene_variant,,ENST00000572588,;	2121	93	69	SUCCESS
IGFALS	3483	.	GRCh37	16	1841477	1841477	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765387192	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	67	0	ENST00000215539.3:c.942C>A	p.His314Gln	p.H314Q	ENST00000215539		314	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS53982.1	1056	MUTECT|MUSE	.	AGGAAGTGCAG	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF67,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058,Superfamily_domains:SSF52058	.	.	ENSP00000416683	.	2/2	.	.	.	.	.	.	.	.	rs765387192	2/2	PASS	ENST00000415638	Transcript	.	.	ENSG00000099769	5468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.07)	.	tolerated(0.95)	.	ALS_HUMAN	IGFALS	HGNC	.	.	UPI00019863AB	SNV	IGFALS,missense_variant,p.His352Gln,ENST00000415638,;IGFALS,missense_variant,p.His314Gln,ENST00000215539,;SPSB3,intron_variant,,ENST00000569769,;NUBP2,downstream_gene_variant,,ENST00000565134,;NUBP2,downstream_gene_variant,,ENST00000565987,;HAGH,downstream_gene_variant,,ENST00000564445,;NUBP2,downstream_gene_variant,,ENST00000262302,;NUBP2,downstream_gene_variant,,ENST00000562263,;NUBP2,downstream_gene_variant,,ENST00000543305,;IGFALS,downstream_gene_variant,,ENST00000568221,;NUBP2,downstream_gene_variant,,ENST00000563136,;NUBP2,downstream_gene_variant,,ENST00000568287,;NUBP2,downstream_gene_variant,,ENST00000568706,;NUBP2,downstream_gene_variant,,ENST00000569898,;NUBP2,downstream_gene_variant,,ENST00000565603,;NUBP2,downstream_gene_variant,,ENST00000563821,;NUBP2,downstream_gene_variant,,ENST00000566447,;NUBP2,downstream_gene_variant,,ENST00000567700,;NUBP2,downstream_gene_variant,,ENST00000568834,;NUBP2,downstream_gene_variant,,ENST00000564227,;NUBP2,downstream_gene_variant,,ENST00000566090,;	1136	67	48	SUCCESS
ARL6IP1	23204	.	GRCh37	16	18810100	18810100	+	synonymous_variant	Silent	SNP	C	C	T	rs766071646	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	47	123	0	ENST00000304414.7:c.93G>A	p.Leu31=	p.L31=	ENST00000304414	NM_015161.1	31	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10572.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCAGCAT	NONE	.	.	hmmpanther:PTHR20952,hmmpanther:PTHR20952:SF1	.	.	ENSP00000306788	.	2/6	.	.	.	.	.	.	.	.	rs766071646	2/6	PASS	ENST00000304414	Transcript	.	.	ENSG00000170540	697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AR6P1_HUMAN	ARL6IP1	HGNC	F5GXP4_HUMAN	.	UPI0000125D46	SNV	ARL6IP1,synonymous_variant,p.%3D,ENST00000562819,;ARL6IP1,synonymous_variant,p.%3D,ENST00000304414,;ARL6IP1,synonymous_variant,p.%3D,ENST00000546206,;RP11-1035H13.3,synonymous_variant,p.%3D,ENST00000567078,;ARL6IP1,synonymous_variant,p.%3D,ENST00000562234,;RP11-1035H13.2,upstream_gene_variant,,ENST00000569096,;ARL6IP1,synonymous_variant,p.%3D,ENST00000563861,;ARL6IP1,non_coding_transcript_exon_variant,,ENST00000566391,;ARL6IP1,non_coding_transcript_exon_variant,,ENST00000567969,;ARL6IP1,non_coding_transcript_exon_variant,,ENST00000569976,;	305	123	113	SUCCESS
GDE1	51573	.	GRCh37	16	19533399	19533399	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	9	0	ENST00000353258.3:c.-113C>T		p.*38*	ENST00000353258	NM_016641.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10578.1	.	MUTECT|MUSE	.	CCTCTGAGGGG	NONE	.	.	.	.	.	ENSP00000261386	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000353258	Transcript	.	.	ENSG00000006007	29644	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GDE1_HUMAN	GDE1	HGNC	.	.	UPI000003776E	SNV	GDE1,5_prime_UTR_variant,,ENST00000353258,;GDE1,upstream_gene_variant,,ENST00000569899,;CCP110,upstream_gene_variant,,ENST00000396212,;GDE1,upstream_gene_variant,,ENST00000569773,;CCP110,upstream_gene_variant,,ENST00000381396,;CCP110,upstream_gene_variant,,ENST00000565376,;CCP110,upstream_gene_variant,,ENST00000396208,;CCP110,upstream_gene_variant,,ENST00000573412,;GDE1,5_prime_UTR_variant,,ENST00000564172,;CCP110,upstream_gene_variant,,ENST00000562083,;CCP110,upstream_gene_variant,,ENST00000569190,;	69	9	16	SUCCESS
C16orf62	0	.	GRCh37	16	19640035	19640035	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs370460906	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	99	0	ENST00000438132.3:c.1727A>C	p.Asn576Thr	p.N576T	ENST00000438132	NM_020314.5	576	aAc/aCc	0	G:0	.	.	.	.	C	N/T	protein_coding	YES	CCDS32397.2	1727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAACGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13673,hmmpanther:PTHR13673:SF2	.	G:0.0002	ENSP00000400815	.	17/31	.	.	.	.	.	.	.	.	rs370460906	17/31	PASS	ENST00000438132	Transcript	.	.	ENSG00000103544	24641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	deleterious(0.02)	.	.	C16orf62	HGNC	I3L1U5_HUMAN,H3BV68_HUMAN,E7EWW0_HUMAN	.	UPI0001E1129C	SNV	C16orf62,missense_variant,p.Asn420Thr,ENST00000417362,;C16orf62,missense_variant,p.Asn576Thr,ENST00000438132,;C16orf62,missense_variant,p.Asn236Thr,ENST00000543152,;C16orf62,missense_variant,p.Asn509Thr,ENST00000542263,;C16orf62,missense_variant,p.Asn487Thr,ENST00000251143,;C16orf62,missense_variant,p.Asn337Thr,ENST00000448695,;C16orf62,downstream_gene_variant,,ENST00000538552,;C16orf62,downstream_gene_variant,,ENST00000539705,;	1775	99	78	SUCCESS
ACSM5	54988	.	GRCh37	16	20432662	20432663	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	68	0	ENST00000331849.4:c.711dup	p.Lys238GlnfsTer28	p.K238Qfs*28	ENST00000331849	NM_017888.2	236	gcc/gCcc	0	.	.	.	.	.	C	A/AX	protein_coding	YES	CCDS10585.1	706-707	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGGGGCCCCC	NONE	.	.	Superfamily_domains:SSF56801,Pfam_domain:PF00501,Gene3D:3.40.50.980,PROSITE_patterns:PS00455,hmmpanther:PTHR24095:SF105,hmmpanther:PTHR24095	.	.	ENSP00000327916	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000331849	Transcript	.	.	ENSG00000183549	26060	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACSM5_HUMAN	ACSM5	HGNC	.	.	UPI00001FEFB3	insertion	ACSM5,frameshift_variant,p.Lys238GlnfsTer28,ENST00000331849,;ACSM5,downstream_gene_variant,,ENST00000575584,;ACSM5,frameshift_variant,p.Lys25GlnfsTer28,ENST00000573920,;ACSM5,non_coding_transcript_exon_variant,,ENST00000570305,;ACSM5,non_coding_transcript_exon_variant,,ENST00000574748,;	853-854	68	82	SUCCESS
CCNF	899	.	GRCh37	16	2499281	2499281	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	78	0	ENST00000397066.4:c.1219-2A>T		p.X407_splice	ENST00000397066	NM_001761.2	407		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10467.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTAGGTCC	NONE	.	.	.	.	.	ENSP00000380256	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397066	Transcript	.	.	ENSG00000162063	1591	.	.	HIGH	11/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNF_HUMAN	CCNF	HGNC	.	.	UPI0000127595	SNV	CCNF,splice_acceptor_variant,,ENST00000397066,;RP11-715J22.3,downstream_gene_variant,,ENST00000561653,;CCNF,splice_acceptor_variant,,ENST00000293968,;CCNF,stop_lost,p.Ter187LeuextTer?,ENST00000564236,;	.	78	56	SUCCESS
NSMCE1	197370	.	GRCh37	16	27268833	27268833	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	45	132	0	ENST00000361439.4:c.59A>G	p.Gln20Arg	p.Q20R	ENST00000361439	NM_145080.3	20	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS10628.2	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTGGAGG	NONE	.	.	hmmpanther:PTHR20973:SF0,hmmpanther:PTHR20973,Pfam_domain:PF07574	.	.	ENSP00000355077	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000361439	Transcript	.	.	ENSG00000169189	29897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NSE1_HUMAN	NSMCE1	HGNC	H3BSL0_HUMAN,H3BR73_HUMAN,H3BN81_HUMAN	.	UPI0000035D91	SNV	NSMCE1,missense_variant,p.Gln20Arg,ENST00000564342,;NSMCE1,missense_variant,p.Gln20Arg,ENST00000563273,;NSMCE1,missense_variant,p.Gln20Arg,ENST00000567710,;NSMCE1,missense_variant,p.Gln20Arg,ENST00000563900,;NSMCE1,missense_variant,p.Gln20Arg,ENST00000361439,;NSMCE1,non_coding_transcript_exon_variant,,ENST00000563512,;NSMCE1,missense_variant,p.Gln20Arg,ENST00000569236,;NSMCE1,missense_variant,p.Gln20Arg,ENST00000566087,;NSMCE1,non_coding_transcript_exon_variant,,ENST00000565626,;NSMCE1,non_coding_transcript_exon_variant,,ENST00000565070,;NSMCE1,non_coding_transcript_exon_variant,,ENST00000561960,;	159	132	98	SUCCESS
GTF3C1	2975	.	GRCh37	16	27472839	27472839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	63	0	ENST00000356183.4:c.6162G>T	p.Lys2054Asn	p.K2054N	ENST00000356183	NM_001520.3	2054	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS32414.1	6162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCTTTCT	NONE	.	.	hmmpanther:PTHR15180	.	.	ENSP00000348510	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,missense_variant,p.Lys159Asn,ENST00000569653,;GTF3C1,missense_variant,p.Lys2029Asn,ENST00000561623,;GTF3C1,missense_variant,p.Lys2054Asn,ENST00000356183,;GTF3C1,upstream_gene_variant,,ENST00000567806,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000562609,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000564747,;	6178	63	42	SUCCESS
XPO6	23214	.	GRCh37	16	28137133	28137141	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGTCG	CGGCAGTCG	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	CGGCAGTCG	CGGCAGTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	60	0	ENST00000304658.5:c.1635_1643del	p.Asn545_Arg548delinsLys	p.N545_R548delinsK	ENST00000304658	NM_015171.3	545	aaCGACTGCCGg/aag	0	.	.	.	.	.	-	NDCR/K	protein_coding	YES	CCDS42135.1	1635-1643	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCGCCGGCAGTCGTTCTC	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR21452	.	.	ENSP00000302790	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	deletion	XPO6,inframe_deletion,p.Asn545_Arg548delinsLys,ENST00000304658,;XPO6,inframe_deletion,p.Asn531_Arg534delinsLys,ENST00000565698,;XPO6,inframe_deletion,p.Asn62_Arg65delinsLys,ENST00000564905,;XPO6,non_coding_transcript_exon_variant,,ENST00000563138,;XPO6,non_coding_transcript_exon_variant,,ENST00000562408,;XPO6,downstream_gene_variant,,ENST00000567842,;XPO6,downstream_gene_variant,,ENST00000565284,;	2136-2144	60	46	SUCCESS
SRCAP	10847	.	GRCh37	16	30749727	30749727	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1361660421	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	72	0	ENST00000262518.4:c.8366G>A	p.Gly2789Glu	p.G2789E	ENST00000262518	NM_006662.2	2789	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS10689.2	8366	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGAAGCC	NONE	.	.	hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	.	ENSP00000262518	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Gly2789Glu,ENST00000262518,;SRCAP,missense_variant,p.Gly2631Glu,ENST00000344771,;SRCAP,missense_variant,p.Gly2727Glu,ENST00000395059,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Gly2612Glu,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	8751	72	62	SUCCESS
C16orf93	0	.	GRCh37	16	30771751	30771751	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	33	106	0	ENST00000543610.1:c.323T>A	p.Leu108Gln	p.L108Q	ENST00000543610	NM_001014979.2	108	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32434.2	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTAGCTCC	NONE	.	.	.	.	.	ENSP00000437532	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000543610	Transcript	.	.	ENSG00000196118	28078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CP093_HUMAN	C16orf93	HGNC	.	.	UPI0000EA2A74	SNV	C16orf93,missense_variant,p.Leu108Gln,ENST00000545825,;C16orf93,missense_variant,p.Leu108Gln,ENST00000541260,;C16orf93,missense_variant,p.Leu108Gln,ENST00000543610,;PHKG2,3_prime_UTR_variant,,ENST00000563588,;RNF40,upstream_gene_variant,,ENST00000566811,;RNF40,upstream_gene_variant,,ENST00000563683,;RNF40,upstream_gene_variant,,ENST00000324685,;RNF40,upstream_gene_variant,,ENST00000402121,;RNF40,upstream_gene_variant,,ENST00000565931,;PHKG2,downstream_gene_variant,,ENST00000565897,;PHKG2,downstream_gene_variant,,ENST00000565924,;PHKG2,downstream_gene_variant,,ENST00000328273,;RNF40,upstream_gene_variant,,ENST00000563909,;PHKG2,downstream_gene_variant,,ENST00000424889,;C16orf93,upstream_gene_variant,,ENST00000535476,;RNF40,upstream_gene_variant,,ENST00000565995,;RNF40,upstream_gene_variant,,ENST00000357890,;C16orf93,upstream_gene_variant,,ENST00000544613,;C16orf93,3_prime_UTR_variant,,ENST00000545809,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544487,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544643,;C16orf93,non_coding_transcript_exon_variant,,ENST00000543128,;C16orf93,non_coding_transcript_exon_variant,,ENST00000546006,;C16orf93,non_coding_transcript_exon_variant,,ENST00000433909,;C16orf93,non_coding_transcript_exon_variant,,ENST00000537986,;PHKG2,downstream_gene_variant,,ENST00000563913,;RNF40,upstream_gene_variant,,ENST00000493683,;PHKG2,downstream_gene_variant,,ENST00000569684,;RNF40,upstream_gene_variant,,ENST00000566703,;PHKG2,downstream_gene_variant,,ENST00000564838,;	1285	106	92	SUCCESS
MEFV	4210	.	GRCh37	16	3306451	3306451	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs747920632	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	63	123	1	ENST00000219596.1:c.137A>T	p.Gln46Leu	p.Q46L	ENST00000219596	NM_000243.2	46	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10498.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTGGATC	NONE	.	.	PROSITE_profiles:PS50824,Pfam_domain:PF02758,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000219596	.	1/10	.	.	.	.	.	.	.	.	rs747920632	1/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,missense_variant,p.Gln46Leu,ENST00000219596,;MEFV,missense_variant,p.Gln46Leu,ENST00000536379,;MEFV,missense_variant,p.Gln46Leu,ENST00000339854,;MEFV,missense_variant,p.Gln46Leu,ENST00000541159,;MEFV,missense_variant,p.Gln46Leu,ENST00000538326,;MEFV,missense_variant,p.Gln46Leu,ENST00000576315,;MEFV,missense_variant,p.Gln46Leu,ENST00000536980,;MEFV,missense_variant,p.Gln46Leu,ENST00000570511,;MEFV,missense_variant,p.Gln46Leu,ENST00000574583,;MEFV,missense_variant,p.Gln46Leu,ENST00000542898,;MEFV,missense_variant,p.Gln46Leu,ENST00000572244,;MEFV,missense_variant,p.Gln46Leu,ENST00000537682,;MEFV,missense_variant,p.Gln46Leu,ENST00000539145,;	177	124	130	SUCCESS
C16orf96	342346	.	GRCh37	16	4625242	4625242	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	29	0	ENST00000444310.4:c.761A>T	p.Gln254Leu	p.Q254L	ENST00000444310	NM_001145011.1	254	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS53986.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCAGACCA	NONE	.	.	.	.	.	ENSP00000415027	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Gln254Leu,ENST00000444310,;	761	29	24	SUCCESS
PHKB	5257	.	GRCh37	16	47622887	47622887	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775139159	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	63	0	ENST00000323584.5:c.942C>G	p.Ser314Arg	p.S314R	ENST00000323584	NM_000293.2	314	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS10729.1	942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGCCAGAC	NONE	byFrequency	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3,Pfam_domain:PF00723,Superfamily_domains:SSF48208	.	.	ENSP00000313504	.	10/31	.	.	.	.	.	.	.	.	rs775139159	10/31	PASS	ENST00000323584	Transcript	.	.	ENSG00000102893	8927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.28)	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Ser314Arg,ENST00000299167,;PHKB,missense_variant,p.Ser314Arg,ENST00000323584,;PHKB,missense_variant,p.Ser307Arg,ENST00000566044,;PHKB,missense_variant,p.Ser307Arg,ENST00000455779,;PHKB,non_coding_transcript_exon_variant,,ENST00000567402,;PHKB,downstream_gene_variant,,ENST00000570047,;	966	63	68	SUCCESS
CHD9	80205	.	GRCh37	16	53337778	53337778	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	79	194	1	ENST00000398510.3:c.5860A>T	p.Asn1954Tyr	p.N1954Y	ENST00000398510		1954	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS45485.1	5860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAAATCCA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	.	.	ENSP00000457466	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Asn1954Tyr,ENST00000566029,;CHD9,missense_variant,p.Asn1954Tyr,ENST00000447540,;CHD9,missense_variant,p.Asn1954Tyr,ENST00000564845,;CHD9,missense_variant,p.Asn1954Tyr,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;RP11-454F8.2,downstream_gene_variant,,ENST00000566796,;	6069	195	174	SUCCESS
RBL2	5934	.	GRCh37	16	53515713	53515713	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	53	113	0	ENST00000262133.6:c.3215A>C	p.Lys1072Thr	p.K1072T	ENST00000262133	NM_005611.3	1072	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS10748.1	3215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGATTT	NONE	.	.	hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8	.	.	ENSP00000262133	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.16)	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,missense_variant,p.Lys451Thr,ENST00000544545,;RBL2,missense_variant,p.Lys1072Thr,ENST00000262133,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,downstream_gene_variant,,ENST00000564605,;	3352	114	104	SUCCESS
SLC6A2	6530	.	GRCh37	16	55705696	55705696	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	30	0	ENST00000379906.2:c.407-154A>T		p.*136*	ENST00000379906	NM_001043.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54011.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCGACAGGT	NONE	.	.	.	.	.	ENSP00000219833	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000219833	Transcript	.	.	ENSG00000103546	11048	.	.	MODIFIER	2/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A2_HUMAN	SLC6A2	HGNC	Q9Y6W9_HUMAN,H3BMY5_HUMAN	.	UPI00000734FD	SNV	SLC6A2,5_prime_UTR_variant,,ENST00000567238,;SLC6A2,intron_variant,,ENST00000568529,;SLC6A2,intron_variant,,ENST00000561820,;SLC6A2,intron_variant,,ENST00000566163,;SLC6A2,intron_variant,,ENST00000379906,;SLC6A2,intron_variant,,ENST00000219833,;SLC6A2,intron_variant,,ENST00000568943,;SLC6A2,intron_variant,,ENST00000568655,;SLC6A2,intron_variant,,ENST00000414754,;	.	30	28	SUCCESS
CCDC135	0	.	GRCh37	16	57760018	57760018	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	104	274	0	ENST00000360716.3:c.1797C>A	p.Pro599=	p.P599=	ENST00000360716		599	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10787.1	1797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCGCGGA	NONE	.	.	.	.	.	ENSP00000353942	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000360716	Transcript	.	.	ENSG00000159625	25289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC135_HUMAN	CCDC135	HGNC	H3BRX1_HUMAN,H3BQY5_HUMAN	.	UPI00001AEB68	SNV	CCDC135,synonymous_variant,p.%3D,ENST00000562250,;CCDC135,synonymous_variant,p.%3D,ENST00000336825,;CCDC135,synonymous_variant,p.%3D,ENST00000360716,;CCDC135,synonymous_variant,p.%3D,ENST00000394337,;CCDC135,non_coding_transcript_exon_variant,,ENST00000565609,;	2018	274	220	SUCCESS
NFAT5	10725	.	GRCh37	16	69703941	69703943	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	140	80	278	0	ENST00000354436.2:c.1385_1387del	p.Glu462del	p.E462del	ENST00000354436	NM_006599.3	459	ggAGAa/gga	0	.	.	.	.	.	-	GE/G	protein_coding	YES	CCDS45518.1	1431-1433	INDELOCATOR|VARSCANI	.	GAAAGGAGAAGAAG	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00429,Gene3D:2.60.40.10,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF7	.	.	ENSP00000396538	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000432919	Transcript	.	.	ENSG00000102908	7774	8	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NFAT5_HUMAN	NFAT5	HGNC	.	.	UPI000049DE1B	deletion	NFAT5,inframe_deletion,p.Glu480del,ENST00000567239,;NFAT5,inframe_deletion,p.Glu480del,ENST00000432919,;NFAT5,inframe_deletion,p.Glu462del,ENST00000354436,;NFAT5,inframe_deletion,p.Glu386del,ENST00000349945,;NFAT5,inframe_deletion,p.Glu386del,ENST00000393742,;NFAT5,inframe_deletion,p.Glu386del,ENST00000566899,;NFAT5,intron_variant,,ENST00000565301,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,3_prime_UTR_variant,,ENST00000567990,;NFAT5,3_prime_UTR_variant,,ENST00000563474,;	2639-2641	278	220	SUCCESS
PDPR	55066	.	GRCh37	16	70190550	70190550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	100	1	ENST00000288050.4:c.2408C>A	p.Ala803Asp	p.A803D	ENST00000288050	NM_017990.3	803	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS45520.1	2408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCCTACA	NONE	.	.	Gene3D:2.40.30.110,Pfam_domain:PF08669,Superfamily_domains:SSF101790	.	.	ENSP00000288050	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	deleterious(0.04)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Ala186Asp,ENST00000569042,;PDPR,missense_variant,p.Ala148Asp,ENST00000542659,;PDPR,missense_variant,p.Ala803Asp,ENST00000288050,;PDPR,missense_variant,p.Ala703Asp,ENST00000398122,;PDPR,missense_variant,p.Ala803Asp,ENST00000568530,;PDPR,missense_variant,p.Ala161Asp,ENST00000567046,;PDPR,downstream_gene_variant,,ENST00000563930,;PDPR,downstream_gene_variant,,ENST00000567896,;RP11-296I10.3,intron_variant,,ENST00000566989,;RP11-296I10.3,downstream_gene_variant,,ENST00000502126,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,3_prime_UTR_variant,,ENST00000565186,;PDPR,3_prime_UTR_variant,,ENST00000564563,;	3365	101	77	SUCCESS
CNTNAP4	85445	.	GRCh37	16	76509861	76509861	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150806968	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	102	0	ENST00000478060.1:c.1462G>A	p.Gly488Ser	p.G488S	ENST00000478060	NM_138994.3	488	Ggt/Agt	0	A:0	A:0.0008	.	A:0	.	A	G/S	protein_coding	YES	CCDS10924.2	1462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACGGTGGG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	A:0	A:0.0002	ENSP00000418741	A:0	10/23	.	.	.	.	.	.	.	.	rs150806968,COSM704779,COSM1709421,COSM704780,COSM1709422,COSM1709420,COSM704778	10/23	PASS	ENST00000478060	Transcript	.	A:0.0002	ENSG00000152910	18747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1,1	.	.	benign(0.264)	A:0	deleterious(0.02)	0,1,1,1,1,1,1	CNTP4_HUMAN	CNTNAP4	HGNC	H3BPC8_HUMAN	.	UPI000059D3C6	SNV	CNTNAP4,missense_variant,p.Gly488Ser,ENST00000478060,;CNTNAP4,missense_variant,p.Gly512Ser,ENST00000377504,;CNTNAP4,missense_variant,p.Gly560Ser,ENST00000307431,;CNTNAP4,missense_variant,p.Gly564Ser,ENST00000476707,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	1462	102	68	SUCCESS
OSGIN1	29948	.	GRCh37	16	83998905	83998905	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	39	0	ENST00000343939.2:c.976G>A	p.Val326Ile	p.V326I	ENST00000343939		326	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10939.1	727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGGTCCTC	NONE	.	.	hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF15,Gene3D:3.50.50.60,Pfam_domain:PF13738,Superfamily_domains:SSF51905	.	.	ENSP00000355374	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361711	Transcript	.	.	ENSG00000140961	30093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OSGI1_HUMAN	OSGIN1	HGNC	J3KRK7_HUMAN,H3BTF9_HUMAN	.	UPI000006CF29	SNV	OSGIN1,missense_variant,p.Val243Ile,ENST00000361711,;OSGIN1,missense_variant,p.Val326Ile,ENST00000343939,;OSGIN1,missense_variant,p.Val243Ile,ENST00000393306,;OSGIN1,downstream_gene_variant,,ENST00000565123,;NECAB2,upstream_gene_variant,,ENST00000305202,;OSGIN1,downstream_gene_variant,,ENST00000567707,;	1199	39	32	SUCCESS
ATP2C2	9914	.	GRCh37	16	84459339	84459339	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs1033643441	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	55	144	0	ENST00000262429.4:c.920-2A>T		p.X307_splice	ENST00000262429	NM_014861.2	307		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42207.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGGTCT	NONE	.	.	.	.	.	ENSP00000262429	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262429	Transcript	.	.	ENSG00000064270	29103	.	.	HIGH	10/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2C2_HUMAN	ATP2C2	HGNC	.	.	UPI0000252110	SNV	ATP2C2,splice_acceptor_variant,,ENST00000262429,;ATP2C2,splice_acceptor_variant,,ENST00000416219,;ATP2C2,splice_acceptor_variant,,ENST00000420010,;ATP2C2,downstream_gene_variant,,ENST00000565546,;ATP2C2,splice_acceptor_variant,,ENST00000565631,;ATP2C2,splice_acceptor_variant,,ENST00000563340,;ATP2C2,downstream_gene_variant,,ENST00000569207,;	.	144	150	SUCCESS
FOXF1	2294	.	GRCh37	16	86544400	86544400	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs121909336	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	127	0	ENST00000262426.4:c.225C>A	p.Tyr75Ter	p.Y75*	ENST00000262426	NM_001451.2	75	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS10957.2	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	ATCTACCAGTT	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF148,hmmpanther:PTHR11829,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000262426	.	1/2	.	.	.	.	.	.	.	.	CM093481,rs121909336	1/2	PASS	ENST00000262426	Transcript	.	.	ENSG00000103241	3809	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	FOXF1_HUMAN	FOXF1	HGNC	.	.	UPI000059D3CC	SNV	FOXF1,stop_gained,p.Tyr75Ter,ENST00000262426,;FENDRR,upstream_gene_variant,,ENST00000599749,;FENDRR,upstream_gene_variant,,ENST00000593604,;FENDRR,upstream_gene_variant,,ENST00000597578,;FENDRR,upstream_gene_variant,,ENST00000595886,;	268	127	111	SUCCESS
IL17C	27189	.	GRCh37	16	88705453	88705453	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	72	0	ENST00000244241.4:c.71T>A	p.Leu24His	p.L24H	ENST00000244241	NM_013278.3	24	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS42217.1	71	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTCAGGG	NONE	.	.	hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF5	.	.	ENSP00000244241	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000244241	Transcript	.	.	ENSG00000124391	5983	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.12)	.	IL17C_HUMAN	IL17C	HGNC	.	.	UPI000003E87C	SNV	IL17C,missense_variant,p.Leu24His,ENST00000244241,;CYBA,downstream_gene_variant,,ENST00000565588,;CYBA,downstream_gene_variant,,ENST00000261623,;CYBA,downstream_gene_variant,,ENST00000566229,;IL17C,non_coding_transcript_exon_variant,,ENST00000569133,;CYBA,downstream_gene_variant,,ENST00000566534,;	120	72	65	SUCCESS
USP7	7874	.	GRCh37	16	8988707	8988707	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	100	0	ENST00000344836.4:c.3045G>T	p.Glu1015Asp	p.E1015D	ENST00000344836	NM_003470.2	1015	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS32385.1	3045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCTCGCC	NONE	.	.	Pfam_domain:PF14533	.	.	ENSP00000343535	.	29/31	.	.	.	.	.	.	.	.	.	29/31	PASS	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious(0.05)	.	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,missense_variant,p.Glu999Asp,ENST00000381886,;USP7,missense_variant,p.Glu916Asp,ENST00000535863,;USP7,missense_variant,p.Glu1015Asp,ENST00000344836,;USP7,downstream_gene_variant,,ENST00000563085,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,downstream_gene_variant,,ENST00000565883,;USP7,downstream_gene_variant,,ENST00000566131,;USP7,downstream_gene_variant,,ENST00000563043,;USP7,downstream_gene_variant,,ENST00000562615,;USP7,downstream_gene_variant,,ENST00000562051,;USP7,downstream_gene_variant,,ENST00000567692,;USP7,downstream_gene_variant,,ENST00000567113,;USP7,downstream_gene_variant,,ENST00000569448,;	3244	100	84	SUCCESS
TUBB8P7	197331	.	GRCh37	16	90161572	90161572	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	40	232	0	ENST00000564451.1:n.925A>T		p.*309*	ENST00000564451				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAAGGGAC	BUFFER|p.R105H|c.314G>A|20	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000564451	Transcript	.	.	ENSG00000261812	42345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TUBB8P7	HGNC	.	.	.	SNV	TUBB8P7,non_coding_transcript_exon_variant,,ENST00000564451,;TUBB8P7,non_coding_transcript_exon_variant,,ENST00000563927,;TUBB8P7,non_coding_transcript_exon_variant,,ENST00000567207,;PRDM7,upstream_gene_variant,,ENST00000569206,;TUBB8P7,missense_variant,p.Lys103Met,ENST00000567960,;	925	232	181	SUCCESS
MYH13	8735	.	GRCh37	17	10212854	10212854	+	synonymous_variant	Silent	SNP	G	G	C	rs371037408	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	48	0	ENST00000252172.4:c.4950C>G	p.Val1650=	p.V1650=	ENST00000252172	NM_003802.2	1650	gtC/gtG	0	A:0.0002	.	.	.	.	C	V	protein_coding	YES	CCDS45613.1	4950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGACCGT	NONE	byCluster	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	A:0	ENSP00000404570	.	33/41	.	.	.	.	.	.	.	.	rs371037408	33/41	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,synonymous_variant,p.%3D,ENST00000418404,;MYH13,synonymous_variant,p.%3D,ENST00000252172,;RP11-401O9.4,intron_variant,,ENST00000609088,;	5114	48	45	SUCCESS
MYH4	4622	.	GRCh37	17	10351254	10351254	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746096803	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	52	176	0	ENST00000255381.2:c.4846C>A	p.Leu1616Met	p.L1616M	ENST00000255381	NM_017533.2	1616	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS11154.1	4846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGAGCAT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000255381	.	34/40	.	.	.	.	.	.	.	.	rs746096803	34/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.04)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Leu1616Met,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4957	177	148	SUCCESS
DNAH9	1770	.	GRCh37	17	11696953	11696953	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	104	0	ENST00000262442.4:c.8195A>G	p.Gln2732Arg	p.Q2732R	ENST00000262442	NM_001372.3	2732	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS11160.1	8195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAGACAG	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676	.	.	ENSP00000262442	.	42/69	.	.	.	.	.	.	.	.	.	42/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Gln2732Arg,ENST00000454412,;DNAH9,missense_variant,p.Gln2732Arg,ENST00000262442,;	8263	104	94	SUCCESS
ZNF287	57336	.	GRCh37	17	16470686	16470686	+	synonymous_variant	Silent	SNP	T	T	C	rs201476319	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	84	1	ENST00000395824.1:c.360A>G	p.Ala120=	p.A120=	ENST00000395824		120	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS11179.2	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACTGCTTC	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR24402:SF201,hmmpanther:PTHR24402,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000379168	.	2/6	.	.	.	.	.	.	.	.	rs201476319	2/6	PASS	ENST00000395824	Transcript	.	.	ENSG00000141040	13502	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN287_HUMAN	ZNF287	HGNC	C9JAV4_HUMAN	.	UPI0000200A57	SNV	ZNF287,synonymous_variant,p.%3D,ENST00000395824,;ZNF287,synonymous_variant,p.%3D,ENST00000395825,;ZNF287,downstream_gene_variant,,ENST00000448349,;ZNF287,non_coding_transcript_exon_variant,,ENST00000578303,;ZNF287,downstream_gene_variant,,ENST00000461555,;ZNF287,upstream_gene_variant,,ENST00000498796,;	978	85	80	SUCCESS
RAI1	10743	.	GRCh37	17	17698925	17698925	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	76	0	ENST00000353383.1:c.2663A>T	p.Gln888Leu	p.Q888L	ENST00000353383	NM_030665.3	888	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS11188.1	2663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAGGACC	NONE	.	.	hmmpanther:PTHR14955:SF6,hmmpanther:PTHR14955	.	.	ENSP00000323074	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000353383	Transcript	.	.	ENSG00000108557	9834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.56)	.	RAI1_HUMAN	RAI1	HGNC	J3QLL5_HUMAN,A8MXE8_HUMAN	.	UPI0000200AAF	SNV	RAI1,missense_variant,p.Gln888Leu,ENST00000353383,;RAI1,missense_variant,p.Gln888Leu,ENST00000261641,;RAI1,missense_variant,p.Gln888Leu,ENST00000395774,;RAI1,upstream_gene_variant,,ENST00000583166,;RAI1,downstream_gene_variant,,ENST00000471135,;	3132	76	62	SUCCESS
MYO15A	51168	.	GRCh37	17	18061879	18061879	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1293095516	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	73	181	1	ENST00000205890.5:c.9010G>T	p.Ala3004Ser	p.A3004S	ENST00000205890	NM_016239.3	3004	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42271.1	9010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGCCCTG	NONE	.	.	.	.	.	ENSP00000205890	.	52/66	.	.	.	.	.	.	.	.	.	52/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,missense_variant,p.Ala268Ser,ENST00000418233,;MYO15A,missense_variant,p.Ala3004Ser,ENST00000205890,;MYO15A,5_prime_UTR_variant,,ENST00000578472,;MYO15A,intron_variant,,ENST00000556535,;MYO15A,downstream_gene_variant,,ENST00000585180,;MYO15A,upstream_gene_variant,,ENST00000451725,;MYO15A,upstream_gene_variant,,ENST00000579848,;MYO15A,intron_variant,,ENST00000557190,;MYO15A,intron_variant,,ENST00000557655,;MYO15A,intron_variant,,ENST00000445289,;MYO15A,intron_variant,,ENST00000433411,;MYO15A,upstream_gene_variant,,ENST00000578575,;MYO15A,upstream_gene_variant,,ENST00000473013,;MYO15A,downstream_gene_variant,,ENST00000536811,;	9348	183	179	SUCCESS
MFAP4	4239	.	GRCh37	17	19289686	19289686	+	synonymous_variant	Silent	SNP	G	G	C	rs751145612	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	55	120	0	ENST00000299610.4:c.177C>G	p.Pro59=	p.P59=	ENST00000299610	NM_002404.2	59	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS56023.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGAGGGGTA	NONE	byFrequency	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF46,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000378957	.	3/6	.	.	.	.	.	.	.	.	rs751145612	3/6	PASS	ENST00000395592	Transcript	.	.	ENSG00000166482	7035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFAP4_HUMAN	MFAP4	HGNC	.	.	UPI000014C39C	SNV	MFAP4,synonymous_variant,p.%3D,ENST00000395592,;MFAP4,synonymous_variant,p.%3D,ENST00000299610,;MFAP4,synonymous_variant,p.%3D,ENST00000497081,;MAPK7,downstream_gene_variant,,ENST00000299612,;MAPK7,downstream_gene_variant,,ENST00000308406,;MAPK7,downstream_gene_variant,,ENST00000395602,;MAPK7,downstream_gene_variant,,ENST00000395604,;MAPK7,downstream_gene_variant,,ENST00000571657,;MFAP4,upstream_gene_variant,,ENST00000574313,;MAPK7,downstream_gene_variant,,ENST00000573417,;MFAP4,non_coding_transcript_exon_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000490660,;MAPK7,downstream_gene_variant,,ENST00000570306,;	321	120	125	SUCCESS
UBBP4	23666	.	GRCh37	17	21731359	21731359	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	106	0	ENST00000578713.1:c.505-71T>A		p.*169*	ENST00000578713				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTGGTCC	NONE	.	.	.	.	.	ENSP00000464265	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000578713	Transcript	.	.	ENSG00000263563	12467	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UBBP4	HGNC	J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN	.	UPI000268AF41	SNV	UBBP4,missense_variant,p.Trp221Arg,ENST00000584755,;UBBP4,3_prime_UTR_variant,,ENST00000583708,;UBBP4,intron_variant,,ENST00000581775,;UBBP4,intron_variant,,ENST00000578713,;UBBP4,downstream_gene_variant,,ENST00000584398,;UBBP4,downstream_gene_variant,,ENST00000581769,;	.	107	82	SUCCESS
FAM27L	0	.	GRCh37	17	21825482	21825482	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	81	246	0	ENST00000426869.3:n.186C>A		p.*62*	ENST00000426869				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCTGAAA	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000426869	Transcript	.	.	ENSG00000178130	32410	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM27L	HGNC	.	.	.	SNV	FAM27L,non_coding_transcript_exon_variant,,ENST00000426869,;AC138761.1,upstream_gene_variant,,ENST00000410838,;RP11-1109M24.14,downstream_gene_variant,,ENST00000579993,;RP11-1109M24.13,downstream_gene_variant,,ENST00000433967,;	186	246	205	SUCCESS
SLC6A4	6532	.	GRCh37	17	28534791	28534791	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	183	0	ENST00000261707.3:c.1609T>A	p.Trp537Arg	p.W537R	ENST00000261707	NM_001045.5	537	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS11256.1	1609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGAACC	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF105,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000385822	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000401766	Transcript	.	.	ENSG00000108576	11050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SC6A4_HUMAN	SLC6A4	HGNC	Q9NYN7_HUMAN,J3KPR9_HUMAN,B3VRW0_HUMAN,B3VRV5_HUMAN,B3VRV0_HUMAN,B3VRU5_HUMAN,B3VRU0_HUMAN,B3VRS5_HUMAN,B3VRS0_HUMAN,B3VRR5_HUMAN,B3VRR0_HUMAN,B3VRQ5_HUMAN,B3VRQ0_HUMAN	.	UPI0000135493	SNV	SLC6A4,missense_variant,p.Trp537Arg,ENST00000261707,;SLC6A4,missense_variant,p.Trp537Arg,ENST00000394821,;SLC6A4,missense_variant,p.Trp537Arg,ENST00000401766,;RP11-354P11.4,downstream_gene_variant,,ENST00000581633,;SLC6A4,3_prime_UTR_variant,,ENST00000579221,;SLC6A4,upstream_gene_variant,,ENST00000578609,;	2122	183	107	SUCCESS
RHBDL3	162494	.	GRCh37	17	30643248	30643248	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	39	77	0	ENST00000269051.4:c.883-3T>A		p.X295_splice	ENST00000269051	NM_138328.2	295		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32613.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCTAGAAC	NONE	.	.	.	.	.	ENSP00000269051	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269051	Transcript	.	.	ENSG00000141314	16502	.	.	LOW	7/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHBL3_HUMAN	RHBDL3	HGNC	Q495Y4_HUMAN	.	UPI0000133858	SNV	RHBDL3,splice_region_variant,,ENST00000536287,;RHBDL3,splice_region_variant,,ENST00000538145,;RHBDL3,splice_region_variant,,ENST00000269051,;RHBDL3,splice_region_variant,,ENST00000431505,;RHBDL3,splice_region_variant,,ENST00000582967,;RHBDL3,splice_region_variant,,ENST00000578006,;	.	77	84	SUCCESS
MYO1D	4642	.	GRCh37	17	31048069	31048069	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747274916	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	9	133	0	ENST00000318217.5:c.1885C>T	p.Arg629Cys	p.R629C	ENST00000318217	NM_015194.1	629	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32615.1	1885	MUTECT|MUSE|VARSCANS	.	CTGGCGGAAGG	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF333,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000324527	.	15/22	.	.	.	.	.	.	.	.	rs746809159,rs747274916	15/22	PASS	ENST00000318217	Transcript	.	.	ENSG00000176658	7598	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO1D_HUMAN	MYO1D	HGNC	Q8N618_HUMAN,K7EIG7_HUMAN	.	UPI0000186004	SNV	MYO1D,missense_variant,p.Arg541Cys,ENST00000394649,;MYO1D,missense_variant,p.Arg629Cys,ENST00000318217,;MYO1D,missense_variant,p.Arg629Cys,ENST00000579584,;MYO1D,non_coding_transcript_exon_variant,,ENST00000585094,;MYO1D,downstream_gene_variant,,ENST00000580538,;MYO1D,downstream_gene_variant,,ENST00000577252,;	2190	133	116	SUCCESS
OR1A1	8383	.	GRCh37	17	3119514	3119514	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	94	0	ENST00000304094.1:c.600C>A	p.Tyr200Ter	p.Y200*	ENST00000304094	NM_014565.2	200	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS11022.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTACCTAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000305207	.	1/1	.	.	.	.	.	.	.	.	COSM1286799	1/1	PASS	ENST00000304094	Transcript	.	.	ENSG00000172146	8179	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR1A1_HUMAN	OR1A1	HGNC	.	.	UPI000013E937	SNV	OR1A1,stop_gained,p.Tyr200Ter,ENST00000304094,;	600	94	83	SUCCESS
OR3A3	8392	.	GRCh37	17	3324195	3324195	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	42	135	0	ENST00000291231.1:c.334T>C	p.Phe112Leu	p.F112L	ENST00000291231	NM_012373.2	112	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11025.1	334	SOMATICSNIPER|VARSCANS	.	TCTTCTTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF231,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000291231	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000291231	Transcript	.	.	ENSG00000159961	8284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.053)	.	deleterious(0.02)	.	OR3A3_HUMAN	OR3A3	HGNC	.	.	UPI000013E033	SNV	OR3A3,missense_variant,p.Phe112Leu,ENST00000291231,;	334	135	118	SUCCESS
SPATA22	84690	.	GRCh37	17	3349813	3349813	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	235	144	386	0	ENST00000397168.3:c.755A>G	p.Tyr252Cys	p.Y252C	ENST00000397168	NM_032598.4	252	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11027.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATACTTC	NONE	.	.	.	.	.	ENSP00000459580	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000573128	Transcript	.	.	ENSG00000141255	30705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SPT22_HUMAN	SPATA22	HGNC	I3L517_HUMAN,I3L4D7_HUMAN,I3L2B9_HUMAN,I3L1L5_HUMAN	.	UPI0000140D16	SNV	SPATA22,missense_variant,p.Tyr252Cys,ENST00000573128,;SPATA22,missense_variant,p.Tyr236Cys,ENST00000541913,;SPATA22,missense_variant,p.Tyr252Cys,ENST00000572969,;SPATA22,missense_variant,p.Tyr252Cys,ENST00000575375,;SPATA22,missense_variant,p.Tyr252Cys,ENST00000268981,;SPATA22,missense_variant,p.Tyr252Cys,ENST00000397168,;SPATA22,missense_variant,p.Tyr209Cys,ENST00000355380,;SPATA22,downstream_gene_variant,,ENST00000574797,;SPATA22,downstream_gene_variant,,ENST00000571553,;SPATA22,downstream_gene_variant,,ENST00000572582,;SPATA22,downstream_gene_variant,,ENST00000571607,;SPATA22,downstream_gene_variant,,ENST00000574051,;	1239	386	380	SUCCESS
SLFN13	146857	.	GRCh37	17	33767910	33767910	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	51	87	0	ENST00000285013.6:c.2398T>A	p.Phe800Ile	p.F800I	ENST00000285013	NM_144682.5	800	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS32620.1	2398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAAGAAGC	NONE	.	.	hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155,Superfamily_domains:SSF52540	.	.	ENSP00000285013	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000285013	Transcript	.	.	ENSG00000154760	26481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	tolerated(0.13)	.	SLN13_HUMAN	SLFN13	HGNC	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN	.	UPI000004E65A	SNV	SLFN13,missense_variant,p.Phe800Ile,ENST00000526861,;SLFN13,missense_variant,p.Phe800Ile,ENST00000285013,;SLFN13,missense_variant,p.Phe482Ile,ENST00000360502,;SLFN13,missense_variant,p.Phe800Ile,ENST00000542635,;SLFN13,missense_variant,p.Phe482Ile,ENST00000534689,;SLFN13,missense_variant,p.Phe800Ile,ENST00000533791,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,downstream_gene_variant,,ENST00000532210,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,downstream_gene_variant,,ENST00000532774,;	2674	87	110	SUCCESS
CCL14	6358	.	GRCh37	17	34311402	34311402	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	103	0	ENST00000536149.1:c.214A>G	p.Asn72Asp	p.N72D	ENST00000536149		72	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS45652.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTTGGTCT	NONE	.	.	Superfamily_domains:SSF54117,SMART_domains:SM00199,Pfam_domain:PF00048,Gene3D:2.40.50.40,PROSITE_patterns:PS00472,hmmpanther:PTHR12015:SF75,hmmpanther:PTHR12015	.	.	ENSP00000441771	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000536149	Transcript	.	.	ENSG00000213494	10612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.501)	.	deleterious(0.02)	.	CCL14_HUMAN	CCL14	HGNC	.	.	UPI000002B47E	SNV	CCL14,missense_variant,p.Asn78Asp,ENST00000480944,;CCL14,missense_variant,p.Asn56Asp,ENST00000394509,;CCL14,missense_variant,p.Asn56Asp,ENST00000586216,;CCL14,missense_variant,p.Asn72Asp,ENST00000435911,;CCL14,missense_variant,p.Asn72Asp,ENST00000536149,;CCL16,upstream_gene_variant,,ENST00000293275,;CTB-186H2.3,upstream_gene_variant,,ENST00000591669,;CTB-186H2.3,intron_variant,,ENST00000593057,;CCL15-CCL14,3_prime_UTR_variant,,ENST00000481427,;CCL15-CCL14,3_prime_UTR_variant,,ENST00000495214,;CCL16,upstream_gene_variant,,ENST00000586567,;	1226	103	91	SUCCESS
ACACA	31	.	GRCh37	17	35656284	35656284	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	82	219	1	ENST00000353139.5:c.339-14413A>T		p.*113*	ENST00000353139	NM_198834.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTTTTTCT	NONE	.	.	.	.	.	ENSP00000344789	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODIFIER	3/55	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,5_prime_UTR_variant,,ENST00000360679,;ACACA,5_prime_UTR_variant,,ENST00000335166,;ACACA,intron_variant,,ENST00000416895,;ACACA,intron_variant,,ENST00000591148,;ACACA,intron_variant,,ENST00000394403,;ACACA,intron_variant,,ENST00000353139,;ACACA,intron_variant,,ENST00000394406,;ACACA,intron_variant,,ENST00000413318,;ACACA,intron_variant,,ENST00000451642,;ACACA,intron_variant,,ENST00000590888,;ACACA,intron_variant,,ENST00000456066,;	.	220	186	SUCCESS
ARHGAP23	57636	.	GRCh37	17	36619393	36619393	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	122	0	ENST00000431231.2:c.384C>A	p.Val128=	p.V128=	ENST00000431231	NM_001199417.1	128	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS56027.1	384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTCATTGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000393539	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000431231	Transcript	.	.	ENSG00000225485	29293	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG23_HUMAN	ARHGAP23	HGNC	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN	.	UPI0000F3BE51	SNV	ARHGAP23,synonymous_variant,p.%3D,ENST00000431231,;ARHGAP23,synonymous_variant,p.%3D,ENST00000443378,;ARHGAP23,synonymous_variant,p.%3D,ENST00000549246,;ARHGAP23,synonymous_variant,p.%3D,ENST00000437668,;ARHGAP23,downstream_gene_variant,,ENST00000582409,;	452	122	97	SUCCESS
RARA	5914	.	GRCh37	17	38512266	38512266	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	71	159	1	ENST00000254066.5:c.1177G>A	p.Glu393Lys	p.E393K	ENST00000254066	NM_000964.3	393	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS11366.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGAGCGG	NONE	.	.	hmmpanther:PTHR24082:SF115,hmmpanther:PTHR24082,Pfam_domain:PF00104,Gene3D:1.10.565.10,Superfamily_domains:SSF48508,Prints_domain:PR01292,Prints_domain:PR00398	.	.	ENSP00000254066	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000254066	Transcript	.	.	ENSG00000131759	9864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	RARA_HUMAN	RARA	HGNC	Q6I9R7_HUMAN,J3QRM2_HUMAN,J3KSJ4_HUMAN	.	UPI0000134A0E	SNV	RARA,missense_variant,p.Glu388Lys,ENST00000394081,;RARA,missense_variant,p.Glu296Lys,ENST00000425707,;RARA,missense_variant,p.Glu393Lys,ENST00000254066,;RARA,missense_variant,p.Glu409Lys,ENST00000394086,;RARA,missense_variant,p.Glu393Lys,ENST00000394089,;RARA,downstream_gene_variant,,ENST00000475125,;CTD-2267D19.3,upstream_gene_variant,,ENST00000578774,;GJD3,downstream_gene_variant,,ENST00000337376,;RARA,non_coding_transcript_exon_variant,,ENST00000420042,;	1632	160	159	SUCCESS
KRT23	25984	.	GRCh37	17	39084545	39084545	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	80	0	ENST00000209718.3:c.866A>G	p.Glu289Gly	p.E289G	ENST00000209718	NM_015515.3	289	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS11380.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTTCGTGG	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF163	.	.	ENSP00000209718	.	6/9	.	.	.	.	.	.	.	.	COSM978992	6/9	PASS	ENST00000209718	Transcript	.	.	ENSG00000108244	6438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.143)	.	deleterious(0.01)	1	K1C23_HUMAN	KRT23	HGNC	K7EPI0_HUMAN,I3L3Q6_HUMAN	.	UPI000013C66F	SNV	KRT23,missense_variant,p.Glu152Gly,ENST00000436344,;KRT23,missense_variant,p.Glu289Gly,ENST00000209718,;KRT23,downstream_gene_variant,,ENST00000584517,;AC004231.2,non_coding_transcript_exon_variant,,ENST00000418393,;KRT23,3_prime_UTR_variant,,ENST00000494691,;KRT23,3_prime_UTR_variant,,ENST00000462312,;KRT23,non_coding_transcript_exon_variant,,ENST00000582754,;	1291	80	51	SUCCESS
KRTAP4-6	81871	.	GRCh37	17	39296524	39296524	+	synonymous_variant	Silent	SNP	G	G	C	rs762829067	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	45	0	ENST00000345847.4:c.216C>G	p.Thr72=	p.T72=	ENST00000345847	NM_030976.1	72	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS54125.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGGTCTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262	.	.	ENSP00000328270	.	1/1	.	.	.	.	.	.	.	.	rs762829067	1/1	PASS	ENST00000345847	Transcript	.	.	ENSG00000198090	18909	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA46_HUMAN	KRTAP4-6	HGNC	.	.	UPI00006C17B9	SNV	KRTAP4-6,synonymous_variant,p.%3D,ENST00000345847,;	216	45	40	SUCCESS
ZZEF1	23140	.	GRCh37	17	3937451	3937451	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	73	182	0	ENST00000381638.2:c.6442T>C	p.Leu2148=	p.L2148=	ENST00000381638	NM_015113.3	2148	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11043.1	6442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAAAAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3	.	.	ENSP00000371051	.	40/55	.	.	.	.	.	.	.	.	.	40/55	PASS	ENST00000381638	Transcript	.	.	ENSG00000074755	29027	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZZEF1_HUMAN	ZZEF1	HGNC	.	.	UPI00004569F7	SNV	ZZEF1,synonymous_variant,p.%3D,ENST00000573183,;ZZEF1,synonymous_variant,p.%3D,ENST00000381638,;ZZEF1,3_prime_UTR_variant,,ENST00000571436,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000572426,;ZZEF1,upstream_gene_variant,,ENST00000573606,;	6567	182	187	SUCCESS
KRT34	3885	.	GRCh37	17	39538297	39538297	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781546162	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	63	166	0	ENST00000394001.1:c.328G>A	p.Ala110Thr	p.A110T	ENST00000394001	NM_021013.3	110	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11390.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGCCAGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF165,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000377570	.	1/7	.	.	.	.	.	.	.	.	rs781546162	1/7	PASS	ENST00000394001	Transcript	.	.	ENSG00000131737	6452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	KRT34_HUMAN	KRT34	HGNC	.	.	UPI000013CD0C	SNV	KRT34,missense_variant,p.Ala110Thr,ENST00000394001,;	359	166	166	SUCCESS
TTC25	0	.	GRCh37	17	40117322	40117322	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	46	125	0	ENST00000591658.1:n.1711A>G		p.*571*	ENST00000591658				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11414.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGAGGCCT	NONE	.	1437	.	.	.	ENSP00000377470	.	.	.	.	.	.	.	.	.	.	COSM979388	.	PASS	ENST00000393892	Transcript	.	.	ENSG00000173786	2158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CN37_HUMAN	CNP	HGNC	K7ERZ0_HUMAN,K7EN66_HUMAN,C9K0L8_HUMAN,B4DFN6_HUMAN	.	UPI0000127BEE	SNV	CNP,upstream_gene_variant,,ENST00000393888,;CNP,upstream_gene_variant,,ENST00000587679,;CNP,upstream_gene_variant,,ENST00000472031,;CNP,upstream_gene_variant,,ENST00000591072,;CNP,upstream_gene_variant,,ENST00000589772,;CNP,upstream_gene_variant,,ENST00000393892,;CNP,upstream_gene_variant,,ENST00000585452,;CNP,upstream_gene_variant,,ENST00000441615,;TTC25,non_coding_transcript_exon_variant,,ENST00000591658,;TTC25,non_coding_transcript_exon_variant,,ENST00000377540,;CNP,upstream_gene_variant,,ENST00000592446,;CNP,upstream_gene_variant,,ENST00000591945,;CNP,upstream_gene_variant,,ENST00000592861,;	.	125	123	SUCCESS
COASY	80347	.	GRCh37	17	40715081	40715081	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	49	113	1	ENST00000393818.2:c.441G>C	p.Leu147=	p.L147=	ENST00000393818	NM_025233.6	147	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS45685.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACTGGCCTC	NONE	.	.	.	.	.	ENSP00000464814	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000590958	Transcript	.	.	ENSG00000068120	29932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COASY_HUMAN	COASY	HGNC	K7ESK6_HUMAN,K7ES73_HUMAN,K7EQ60_HUMAN,K7EPT0_HUMAN,K7EP09_HUMAN,K7EN91_HUMAN	.	UPI00018131ED	SNV	COASY,synonymous_variant,p.%3D,ENST00000421097,;COASY,synonymous_variant,p.%3D,ENST00000586771,;COASY,synonymous_variant,p.%3D,ENST00000587214,;COASY,synonymous_variant,p.%3D,ENST00000587157,;COASY,synonymous_variant,p.%3D,ENST00000393818,;COASY,synonymous_variant,p.%3D,ENST00000420359,;COASY,synonymous_variant,p.%3D,ENST00000590958,;COASY,5_prime_UTR_variant,,ENST00000449624,;COASY,5_prime_UTR_variant,,ENST00000591779,;COASY,downstream_gene_variant,,ENST00000585811,;COASY,downstream_gene_variant,,ENST00000585909,;MLX,upstream_gene_variant,,ENST00000346833,;MLX,upstream_gene_variant,,ENST00000246912,;MLX,upstream_gene_variant,,ENST00000435881,;MLX,upstream_gene_variant,,ENST00000591024,;COASY,downstream_gene_variant,,ENST00000587858,;COASY,downstream_gene_variant,,ENST00000588757,;RP11-400F19.8,downstream_gene_variant,,ENST00000585572,;MLX,upstream_gene_variant,,ENST00000586393,;MLX,upstream_gene_variant,,ENST00000592717,;MLX,upstream_gene_variant,,ENST00000591195,;COASY,upstream_gene_variant,,ENST00000588353,;MLX,upstream_gene_variant,,ENST00000590050,;MLX,upstream_gene_variant,,ENST00000590084,;COASY,upstream_gene_variant,,ENST00000591583,;COASY,upstream_gene_variant,,ENST00000591753,;MLX,upstream_gene_variant,,ENST00000585403,;	653	114	100	SUCCESS
MLX	6945	.	GRCh37	17	40721541	40721541	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768857309	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	77	0	ENST00000246912.4:c.555G>T	p.Gln185His	p.Q185H	ENST00000246912	NM_170607.2	185	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS11430.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGTTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50888,hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF25,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000246912	.	6/8	.	.	.	.	.	.	.	.	rs768857309	6/8	PASS	ENST00000246912	Transcript	.	.	ENSG00000108788	11645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.16)	.	MLX_HUMAN	MLX	HGNC	.	.	UPI000012F237	SNV	MLX,missense_variant,p.Gln101His,ENST00000346833,;MLX,missense_variant,p.Gln131His,ENST00000435881,;MLX,missense_variant,p.Gln185His,ENST00000246912,;MLX,missense_variant,p.Gln155His,ENST00000591024,;PSMC3IP,downstream_gene_variant,,ENST00000253789,;PSMC3IP,downstream_gene_variant,,ENST00000590760,;COASY,downstream_gene_variant,,ENST00000421097,;PSMC3IP,downstream_gene_variant,,ENST00000587209,;COASY,downstream_gene_variant,,ENST00000449624,;COASY,downstream_gene_variant,,ENST00000591779,;COASY,downstream_gene_variant,,ENST00000393818,;COASY,downstream_gene_variant,,ENST00000420359,;COASY,downstream_gene_variant,,ENST00000590958,;PSMC3IP,downstream_gene_variant,,ENST00000393795,;MLX,non_coding_transcript_exon_variant,,ENST00000588320,;MLX,non_coding_transcript_exon_variant,,ENST00000590050,;MLX,non_coding_transcript_exon_variant,,ENST00000585403,;MLX,downstream_gene_variant,,ENST00000586393,;MLX,downstream_gene_variant,,ENST00000592717,;MLX,downstream_gene_variant,,ENST00000591195,;COASY,downstream_gene_variant,,ENST00000588353,;MLX,downstream_gene_variant,,ENST00000590084,;PSMC3IP,downstream_gene_variant,,ENST00000588544,;COASY,downstream_gene_variant,,ENST00000591583,;PSMC3IP,downstream_gene_variant,,ENST00000589505,;COASY,downstream_gene_variant,,ENST00000591753,;PSMC3IP,downstream_gene_variant,,ENST00000590931,;PSMC3IP,downstream_gene_variant,,ENST00000586337,;	608	77	71	SUCCESS
RPL27	6155	.	GRCh37	17	41150829	41150829	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761868372	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	46	0	ENST00000253788.5:c.62G>A	p.Arg21His	p.R21H	ENST00000253788	NM_000988.3	21	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11449.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACGCAAAG	NONE	.	.	hmmpanther:PTHR10497:SF0,hmmpanther:PTHR10497,Pfam_domain:PF00467,Gene3D:2.30.30.30,SMART_domains:SM00739,Superfamily_domains:SSF50104	.	.	ENSP00000464813	.	1/4	.	.	.	.	.	.	.	.	rs761868372	1/4	PASS	ENST00000589913	Transcript	.	.	ENSG00000131469	10328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.28)	.	RL27_HUMAN	RPL27	HGNC	Q6LCU2_HUMAN,K7EQQ9_HUMAN	.	UPI00000002E0	SNV	RPL27,missense_variant,p.Arg21His,ENST00000589037,;RPL27,missense_variant,p.Arg21His,ENST00000589913,;RPL27,missense_variant,p.Arg2His,ENST00000586277,;RPL27,missense_variant,p.Arg21His,ENST00000253788,;RPL27,upstream_gene_variant,,ENST00000590864,;Y_RNA,upstream_gene_variant,,ENST00000363257,;RPL27,missense_variant,p.Arg21His,ENST00000588830,;RPL27,non_coding_transcript_exon_variant,,ENST00000587478,;RPL27,non_coding_transcript_exon_variant,,ENST00000593262,;	336	46	40	SUCCESS
IFI35	3430	.	GRCh37	17	41166312	41166312	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	70	0	ENST00000415816.2:c.857G>T	p.Gly286Val	p.G286V	ENST00000415816	NM_005533.4	286	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11450.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGGCTAGG	NONE	.	.	hmmpanther:PTHR15225,hmmpanther:PTHR15225:SF1	.	.	ENSP00000395590	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000438323	Transcript	.	.	ENSG00000068079	5399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	IN35_HUMAN	IFI35	HGNC	.	.	UPI0000200E4E	SNV	IFI35,missense_variant,p.Gly288Val,ENST00000438323,;IFI35,missense_variant,p.Gly286Val,ENST00000415816,;VAT1,downstream_gene_variant,,ENST00000587173,;VAT1,downstream_gene_variant,,ENST00000420567,;VAT1,downstream_gene_variant,,ENST00000355653,;VAT1,downstream_gene_variant,,ENST00000587147,;VAT1,downstream_gene_variant,,ENST00000587062,;VAT1,downstream_gene_variant,,ENST00000589828,;VAT1,downstream_gene_variant,,ENST00000590924,;VAT1,downstream_gene_variant,,ENST00000589709,;IFI35,downstream_gene_variant,,ENST00000536969,;IFI35,downstream_gene_variant,,ENST00000538473,;IFI35,downstream_gene_variant,,ENST00000534876,;IFI35,downstream_gene_variant,,ENST00000246911,;IFI35,downstream_gene_variant,,ENST00000546325,;IFI35,downstream_gene_variant,,ENST00000396722,;VAT1,downstream_gene_variant,,ENST00000592388,;	1071	70	47	SUCCESS
NBR1	4077	.	GRCh37	17	41349033	41349033	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	9	183	0	ENST00000341165.6:c.1936A>G	p.Thr646Ala	p.T646A	ENST00000341165	NM_031862.2	646	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS45694.1	1936	MUTECT|MUSE	.	GTGGGACCCAG	NONE	.	.	hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.881)	.	tolerated(0.06)	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,missense_variant,p.Thr646Ala,ENST00000422280,;NBR1,missense_variant,p.Thr646Ala,ENST00000589872,;NBR1,missense_variant,p.Thr646Ala,ENST00000389312,;NBR1,missense_variant,p.Thr625Ala,ENST00000542611,;NBR1,missense_variant,p.Thr646Ala,ENST00000341165,;NBR1,missense_variant,p.Thr646Ala,ENST00000590996,;NBR1,downstream_gene_variant,,ENST00000585505,;	2395	183	173	SUCCESS
SLC4A1	6521	.	GRCh37	17	42328926	42328926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	137	0	ENST00000262418.6:c.2342C>T	p.Ser781Phe	p.S781F	ENST00000262418	NM_000342.3	781	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS11481.1	2342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGGACAGG	NONE	.	.	hmmpanther:PTHR11453:SF12,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	.	.	ENSP00000262418	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000262418	Transcript	.	.	ENSG00000004939	11027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	B3AT_HUMAN	SLC4A1	HGNC	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN	.	UPI00000375B8	SNV	SLC4A1,missense_variant,p.Ser781Phe,ENST00000262418,;AC003102.1,upstream_gene_variant,,ENST00000399246,;	2498	137	124	SUCCESS
FMNL1	752	.	GRCh37	17	43311537	43311537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	83	0	ENST00000331495.3:c.584C>A	p.Ser195Tyr	p.S195Y	ENST00000331495	NM_005892.3	195	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS11497.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCCGTGC	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188	.	.	ENSP00000329219	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000331495	Transcript	.	.	ENSG00000184922	1212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.07)	.	FMNL_HUMAN	FMNL1	HGNC	.	.	UPI0000246EE9	SNV	FMNL1,missense_variant,p.Ser195Tyr,ENST00000331495,;FMNL1,missense_variant,p.Ser195Tyr,ENST00000328118,;CTD-2020K17.3,downstream_gene_variant,,ENST00000587534,;FMNL1,non_coding_transcript_exon_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000591434,;FMNL1,non_coding_transcript_exon_variant,,ENST00000585852,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;FMNL1,downstream_gene_variant,,ENST00000592527,;	920	83	58	SUCCESS
LRRC46	90506	.	GRCh37	17	45911898	45911898	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	6	100	1	ENST00000269025.4:c.224G>A	p.Gly75Glu	p.G75E	ENST00000269025	NM_033413.3	75	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS11518.1	224	MUTECT|MUSE	.	GCAAGGGGTAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10588:SF196,hmmpanther:PTHR10588,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000269025	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000269025	Transcript	.	.	ENSG00000141294	25047	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(1)	.	LRC46_HUMAN	LRRC46	HGNC	A8K9Q0_HUMAN	.	UPI0000072C2E	SNV	LRRC46,missense_variant,p.Gly75Glu,ENST00000269025,;SCRN2,downstream_gene_variant,,ENST00000407215,;MRPL10,upstream_gene_variant,,ENST00000290208,;MRPL10,upstream_gene_variant,,ENST00000414011,;SCRN2,downstream_gene_variant,,ENST00000584123,;SCRN2,downstream_gene_variant,,ENST00000290216,;SCRN2,downstream_gene_variant,,ENST00000584567,;SCRN2,downstream_gene_variant,,ENST00000578323,;MRPL10,upstream_gene_variant,,ENST00000351111,;LRRC46,missense_variant,p.Gly75Glu,ENST00000579971,;LRRC46,splice_region_variant,,ENST00000579742,;LRRC46,3_prime_UTR_variant,,ENST00000584580,;LRRC46,non_coding_transcript_exon_variant,,ENST00000584809,;MRPL10,upstream_gene_variant,,ENST00000466016,;SCRN2,downstream_gene_variant,,ENST00000583090,;MRPL10,upstream_gene_variant,,ENST00000423147,;SCRN2,downstream_gene_variant,,ENST00000582459,;SCRN2,downstream_gene_variant,,ENST00000582656,;MRPL10,upstream_gene_variant,,ENST00000480901,;SCRN2,downstream_gene_variant,,ENST00000581645,;SCRN2,downstream_gene_variant,,ENST00000579856,;MRPL10,upstream_gene_variant,,ENST00000421763,;	587	101	81	SUCCESS
ZMYND15	84225	.	GRCh37	17	4649179	4649179	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	113	279	0	ENST00000433935.1:c.2123C>A	p.Ala708Glu	p.A708E	ENST00000433935	NM_001136046.2	708	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS58506.1	2147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCGCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12197:SF130,hmmpanther:PTHR12197	.	.	ENSP00000459501	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000573751	Transcript	.	.	ENSG00000141497	20997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	ZMY15_HUMAN	ZMYND15	HGNC	.	.	UPI0000D4C064	SNV	ZMYND15,missense_variant,p.Ala716Glu,ENST00000573751,;ZMYND15,missense_variant,p.Ala669Glu,ENST00000269289,;ZMYND15,missense_variant,p.Ala708Glu,ENST00000433935,;ZMYND15,missense_variant,p.Ala669Glu,ENST00000592813,;ZMYND15,downstream_gene_variant,,ENST00000571782,;ZMYND15,downstream_gene_variant,,ENST00000574829,;	2177	279	225	SUCCESS
NME1	4830	.	GRCh37	17	49239133	49239133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	48	124	0	ENST00000393196.3:c.386A>T	p.Glu129Val	p.E129V	ENST00000393196	NM_000269.2	129	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS11578.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAGATCG	NONE	.	.	Prints_domain:PR01243,Superfamily_domains:SSF54919,SMART_domains:SM00562,Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF59,HAMAP:MF_00451	.	.	ENSP00000337060	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000336097	Transcript	.	.	ENSG00000239672	7849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	NDKA_HUMAN	NME1	HGNC	E7ERL0_HUMAN,C9K028_HUMAN	.	UPI000017DA4C	SNV	NME1,missense_variant,p.Glu129Val,ENST00000393196,;NME1,missense_variant,p.Glu154Val,ENST00000336097,;NME1,missense_variant,p.Glu154Val,ENST00000013034,;NME1,3_prime_UTR_variant,,ENST00000511355,;NME2,intron_variant,,ENST00000555572,;NME2,intron_variant,,ENST00000393193,;NME2,intron_variant,,ENST00000376392,;NME1-NME2,intron_variant,,ENST00000608447,;NME1-NME2,intron_variant,,ENST00000393198,;NME1-NME2,upstream_gene_variant,,ENST00000393183,;NME1-NME2,upstream_gene_variant,,ENST00000393185,;NME1-NME2,upstream_gene_variant,,ENST00000393190,;NME1,downstream_gene_variant,,ENST00000480143,;NME1-NME2,upstream_gene_variant,,ENST00000514264,;NME1-NME2,upstream_gene_variant,,ENST00000513177,;NME1-NME2,upstream_gene_variant,,ENST00000512737,;NME1-NME2,upstream_gene_variant,,ENST00000503064,;NME1,3_prime_UTR_variant,,ENST00000475573,;NME1-NME2,upstream_gene_variant,,ENST00000485076,;NME1,downstream_gene_variant,,ENST00000512768,;	697	124	94	SUCCESS
OR4D2	124538	.	GRCh37	17	56247411	56247411	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1036912978	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	71	0	ENST00000545221.1:c.395A>G	p.Tyr132Cys	p.Y132C	ENST00000545221	NM_001004707.3	132	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32688.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTATGTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF315,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000441354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000545221	Transcript	.	.	ENSG00000255713	8294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious(0.01)	.	OR4D2_HUMAN	OR4D2	HGNC	.	.	UPI0000000DB3	SNV	OR4D2,missense_variant,p.Tyr132Cys,ENST00000545221,;	395	71	69	SUCCESS
BZRAP1	0	.	GRCh37	17	56384317	56384317	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	44	0	ENST00000343736.4:c.4996A>G	p.Lys1666Glu	p.K1666E	ENST00000343736		1666	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS11605.1	4996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTGTCCC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000345824	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,missense_variant,p.Lys1666Glu,ENST00000343736,;BZRAP1,missense_variant,p.Lys230Glu,ENST00000582679,;BZRAP1,missense_variant,p.Lys97Glu,ENST00000580669,;BZRAP1,missense_variant,p.Lys1666Glu,ENST00000355701,;BZRAP1,missense_variant,p.Lys1606Glu,ENST00000268893,;BZRAP1,upstream_gene_variant,,ENST00000581675,;BZRAP1,upstream_gene_variant,,ENST00000577871,;BZRAP1,upstream_gene_variant,,ENST00000578511,;BZRAP1,downstream_gene_variant,,ENST00000578486,;BZRAP1,upstream_gene_variant,,ENST00000581692,;BZRAP1,downstream_gene_variant,,ENST00000585149,;	5160	44	40	SUCCESS
RAD51C	5889	.	GRCh37	17	56769973	56769973	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	38	0	ENST00000337432.4:c.-32T>C		p.*11*	ENST00000337432	NM_058216.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11611.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTTGGCTG	NONE	.	.	.	.	.	ENSP00000336701	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000337432	Transcript	.	.	ENSG00000108384	9820	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RA51C_HUMAN	RAD51C	HGNC	Q7KZJ0_HUMAN,J3QR58_HUMAN	.	UPI0000133007	SNV	RAD51C,5_prime_UTR_variant,,ENST00000461271,;RAD51C,5_prime_UTR_variant,,ENST00000583539,;RAD51C,5_prime_UTR_variant,,ENST00000337432,;TEX14,upstream_gene_variant,,ENST00000349033,;RAD51C,upstream_gene_variant,,ENST00000425173,;RAD51C,upstream_gene_variant,,ENST00000413590,;TEX14,upstream_gene_variant,,ENST00000240361,;TEX14,upstream_gene_variant,,ENST00000389934,;RAD51C,upstream_gene_variant,,ENST00000421782,;RAD51C,non_coding_transcript_exon_variant,,ENST00000487921,;RAD51C,non_coding_transcript_exon_variant,,ENST00000476741,;RAD51C,5_prime_UTR_variant,,ENST00000475762,;RAD51C,5_prime_UTR_variant,,ENST00000486827,;RAD51C,5_prime_UTR_variant,,ENST00000487525,;RAD51C,upstream_gene_variant,,ENST00000584617,;TEX14,upstream_gene_variant,,ENST00000582740,;RAD51C,upstream_gene_variant,,ENST00000482007,;	40	38	29	SUCCESS
GDPD1	284161	.	GRCh37	17	57351120	57351120	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	40	0	ENST00000284116.4:c.931A>T	p.Asn311Tyr	p.N311Y	ENST00000284116	NM_182569.3	311	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS11616.1	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATAACTTT	NONE	.	.	hmmpanther:PTHR23344:SF15,hmmpanther:PTHR23344	.	.	ENSP00000284116	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000284116	Transcript	.	.	ENSG00000153982	20883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	deleterious(0.01)	.	GDPD1_HUMAN	GDPD1	HGNC	J3QRR6_HUMAN	.	UPI000019850B	SNV	GDPD1,missense_variant,p.Asn311Tyr,ENST00000284116,;GDPD1,intron_variant,,ENST00000581140,;GDPD1,downstream_gene_variant,,ENST00000581276,;GDPD1,missense_variant,p.Asn118Tyr,ENST00000579076,;GDPD1,downstream_gene_variant,,ENST00000579020,;GDPD1,downstream_gene_variant,,ENST00000578026,;	1068	40	62	SUCCESS
NACA2	342538	.	GRCh37	17	59667968	59667968	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	99	0	ENST00000521764.1:c.574A>T	p.Arg192Ter	p.R192*	ENST00000521764	NM_199290.3	192	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11630.1	574	RADIA|MUTECT|MUSE	.	TGCTCTCGACA	NONE	.	.	PIRSF_domain:PIRSF015901,Gene3D:1.10.8.10,hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713	.	.	ENSP00000427802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000521764	Transcript	.	.	ENSG00000253506	23290	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NACA2_HUMAN	NACA2	HGNC	.	.	UPI0000070B04	SNV	NACA2,stop_gained,p.Arg192Ter,ENST00000521764,;AC002994.1,non_coding_transcript_exon_variant,,ENST00000447590,;	596	99	105	SUCCESS
ACE	1636	.	GRCh37	17	61566056	61566056	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs763670346	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	65	0	ENST00000290866.4:c.2353T>G	p.Trp785Gly	p.W785G	ENST00000290866	NM_000789.3	785	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS11637.1	2353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATGGGCA	NONE	.	.	hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	.	.	ENSP00000290866	.	16/25	.	.	.	.	.	.	.	.	rs763670346	16/25	PASS	ENST00000290866	Transcript	.	.	ENSG00000159640	2707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	deleterious(0.02)	.	ACE_HUMAN	ACE	HGNC	Q3KRI5_HUMAN,D3DU13_HUMAN	.	UPI000002B8AD	SNV	ACE,missense_variant,p.Trp211Gly,ENST00000490216,;ACE,missense_variant,p.Trp785Gly,ENST00000428043,;ACE,missense_variant,p.Trp785Gly,ENST00000290866,;ACE,missense_variant,p.Trp41Gly,ENST00000582761,;ACE,missense_variant,p.Trp211Gly,ENST00000290863,;ACE,missense_variant,p.Trp211Gly,ENST00000413513,;ACE,missense_variant,p.Trp95Gly,ENST00000421982,;ACE,upstream_gene_variant,,ENST00000577418,;ACE,downstream_gene_variant,,ENST00000584529,;ACE,missense_variant,p.Trp211Gly,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000582005,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000579204,;ACE,non_coding_transcript_exon_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000582678,;ACE,upstream_gene_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000579726,;	2377	65	60	SUCCESS
GH2	2689	.	GRCh37	17	61957713	61957713	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766528940	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	99	0	ENST00000423893.2:c.622T>C	p.Cys208Arg	p.C208R	ENST00000423893		208	Tgc/Cgc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11648.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCACTGCA	NONE	.	.	.	.	.	ENSP00000333157	.	4/4	.	.	.	.	.	.	.	.	rs766528940	4/4	PASS	ENST00000332800	Transcript	.	.	ENSG00000136487	4262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOM2_HUMAN	GH2	HGNC	.	.	UPI000002B3EF	SNV	GH2,missense_variant,p.Cys193Arg,ENST00000449787,;GH2,missense_variant,p.Cys208Arg,ENST00000423893,;GH2,synonymous_variant,p.%3D,ENST00000456543,;GH2,3_prime_UTR_variant,,ENST00000332800,;	1009	99	79	SUCCESS
CSHL1	1444	.	GRCh37	17	61987231	61987231	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	67	129	0	ENST00000309894.5:c.509T>A	p.Leu170His	p.L170H	ENST00000309894	NM_022579.1	170	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11652.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGAGGGTC	NONE	.	.	hmmpanther:PTHR11417:SF32,hmmpanther:PTHR11417,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266	.	.	ENSP00000309524	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000309894	Transcript	.	.	ENSG00000204414	2442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CSHL_HUMAN	CSHL1	HGNC	I6L999_HUMAN	.	UPI00001602B9	SNV	CSHL1,missense_variant,p.Leu108His,ENST00000259003,;CSHL1,missense_variant,p.Leu170His,ENST00000309894,;CSHL1,missense_variant,p.Leu76His,ENST00000346606,;CSHL1,missense_variant,p.Leu87His,ENST00000438387,;CSHL1,synonymous_variant,p.%3D,ENST00000561003,;CSHL1,synonymous_variant,p.%3D,ENST00000450719,;CSHL1,downstream_gene_variant,,ENST00000392824,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	509	129	140	SUCCESS
COG1	9382	.	GRCh37	17	71196782	71196782	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149528257	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	132	1	ENST00000299886.4:c.1148G>A	p.Arg383Gln	p.R383Q	ENST00000299886	NM_018714.2	383	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11692.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCGGGACG	BUFFER|p.D384G|c.1151A>G|3	byFrequency|byCluster	.	hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0	.	A:0.0001	ENSP00000299886	.	6/14	.	.	.	.	.	.	.	.	rs149528257	6/14	PASS	ENST00000299886	Transcript	.	.	ENSG00000166685	6545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.484)	.	deleterious(0.03)	.	COG1_HUMAN	COG1	HGNC	J3KSY3_HUMAN	.	UPI0000127E34	SNV	COG1,missense_variant,p.Arg383Gln,ENST00000438720,;COG1,missense_variant,p.Arg383Gln,ENST00000299886,;COG1,upstream_gene_variant,,ENST00000582512,;RP11-143K11.5,downstream_gene_variant,,ENST00000580671,;COG1,upstream_gene_variant,,ENST00000577844,;COG1,upstream_gene_variant,,ENST00000580271,;COG1,downstream_gene_variant,,ENST00000582587,;	1228	133	115	SUCCESS
MGAT5B	146664	.	GRCh37	17	74921070	74921070	+	synonymous_variant	Silent	SNP	C	C	A	rs771745922	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	72	0	ENST00000569840.2:c.1048C>A	p.Arg350=	p.R350=	ENST00000569840	NM_001199172.1	350	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45788.1	1081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCGGGGA	BUFFER|p.R350R|c.1050G>C|4	byFrequency	.	hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024	.	.	ENSP00000391227	.	8/16	.	.	.	.	.	.	.	.	rs771745922	8/16	PASS	ENST00000428789	Transcript	.	.	ENSG00000167889	24140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT5B_HUMAN	MGAT5B	HGNC	.	.	UPI0000231C88	SNV	MGAT5B,synonymous_variant,p.%3D,ENST00000428789,;MGAT5B,synonymous_variant,p.%3D,ENST00000569840,;MGAT5B,synonymous_variant,p.%3D,ENST00000301618,;MGAT5B,non_coding_transcript_exon_variant,,ENST00000563627,;MGAT5B,synonymous_variant,p.%3D,ENST00000565043,;	1184	72	49	SUCCESS
SAT2	112483	.	GRCh37	17	7530941	7530941	+	synonymous_variant	Silent	SNP	G	G	T	rs753348551	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	95	0	ENST00000269298.5:c.13C>A	p.Arg5=	p.R5=	ENST00000269298	NM_133491.3	5	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11116.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGCACGG	NONE	byFrequency	.	PROSITE_profiles:PS51186,hmmpanther:PTHR10545:SF29,hmmpanther:PTHR10545,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000269298	.	1/6	.	.	.	.	.	.	.	.	rs753348551	1/6	PASS	ENST00000269298	Transcript	.	.	ENSG00000141504	23160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAT2_HUMAN	SAT2	HGNC	.	.	UPI00000736AF	SNV	SAT2,synonymous_variant,p.%3D,ENST00000269298,;SAT2,synonymous_variant,p.%3D,ENST00000573566,;SHBG,intron_variant,,ENST00000576478,;SHBG,intron_variant,,ENST00000575314,;SHBG,intron_variant,,ENST00000572262,;SHBG,intron_variant,,ENST00000570547,;SHBG,intron_variant,,ENST00000574539,;SHBG,intron_variant,,ENST00000572182,;SHBG,intron_variant,,ENST00000576728,;SHBG,upstream_gene_variant,,ENST00000416273,;SHBG,upstream_gene_variant,,ENST00000575618,;SHBG,upstream_gene_variant,,ENST00000576152,;SHBG,upstream_gene_variant,,ENST00000340624,;SHBG,upstream_gene_variant,,ENST00000575729,;SHBG,upstream_gene_variant,,ENST00000441599,;SHBG,upstream_gene_variant,,ENST00000380450,;SHBG,upstream_gene_variant,,ENST00000575903,;SHBG,upstream_gene_variant,,ENST00000571153,;SHBG,upstream_gene_variant,,ENST00000576830,;SAT2,non_coding_transcript_exon_variant,,ENST00000570850,;SAT2,non_coding_transcript_exon_variant,,ENST00000380466,;SAT2,non_coding_transcript_exon_variant,,ENST00000576686,;SAT2,synonymous_variant,p.%3D,ENST00000571074,;SAT2,synonymous_variant,p.%3D,ENST00000575826,;SAT2,non_coding_transcript_exon_variant,,ENST00000576846,;SAT2,non_coding_transcript_exon_variant,,ENST00000572224,;SAT2,non_coding_transcript_exon_variant,,ENST00000575114,;SAT2,non_coding_transcript_exon_variant,,ENST00000571195,;SAT2,non_coding_transcript_exon_variant,,ENST00000573930,;SAT2,upstream_gene_variant,,ENST00000576579,;SHBG,upstream_gene_variant,,ENST00000570527,;SHBG,upstream_gene_variant,,ENST00000570353,;SHBG,upstream_gene_variant,,ENST00000576747,;SAT2,upstream_gene_variant,,ENST00000570914,;	233	95	82	SUCCESS
AFMID	125061	.	GRCh37	17	76183458	76183458	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767731459	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	95	1	ENST00000409257.5:c.7G>C	p.Asp3His	p.D3H	ENST00000409257	NM_001010982.4	3	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS45801.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGATGTG	NONE	byFrequency	.	.	.	.	ENSP00000328938	.	1/11	.	.	.	.	.	.	.	.	rs767731459,COSM3522786	1/11	PASS	ENST00000327898	Transcript	.	.	ENSG00000183077	20910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.575)	.	deleterious_low_confidence(0)	0,1	KFA_HUMAN	AFMID	HGNC	.	.	UPI000041A994	SNV	AFMID,missense_variant,p.Asp3His,ENST00000586542,;AFMID,missense_variant,p.Asp3His,ENST00000591256,;AFMID,missense_variant,p.Asp3His,ENST00000588800,;AFMID,missense_variant,p.Asp3His,ENST00000327898,;AFMID,missense_variant,p.Asp3His,ENST00000591952,;AFMID,missense_variant,p.Asp3His,ENST00000589256,;AFMID,missense_variant,p.Asp3His,ENST00000409257,;TK1,upstream_gene_variant,,ENST00000590862,;AFMID,upstream_gene_variant,,ENST00000586731,;TK1,upstream_gene_variant,,ENST00000586613,;TK1,upstream_gene_variant,,ENST00000590430,;TK1,upstream_gene_variant,,ENST00000405273,;TK1,upstream_gene_variant,,ENST00000301634,;TK1,upstream_gene_variant,,ENST00000588734,;AFMID,upstream_gene_variant,,ENST00000591538,;AFMID,missense_variant,p.Asp3His,ENST00000589107,;AFMID,missense_variant,p.Asp3His,ENST00000588199,;AFMID,non_coding_transcript_exon_variant,,ENST00000592988,;TK1,upstream_gene_variant,,ENST00000592126,;	16	96	89	SUCCESS
DNAH2	146754	.	GRCh37	17	7644139	7644139	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	50	0	ENST00000389173.2:c.1518G>A	p.Arg506=	p.R506=	ENST00000389173	NM_020877.2	506	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32551.1	1518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGACTTA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF08385	.	.	ENSP00000458355	.	11/86	.	.	.	.	.	.	.	.	.	11/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000082259,;DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000570791,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,non_coding_transcript_exon_variant,,ENST00000575498,;	2978	50	50	SUCCESS
DNAH17	8632	.	GRCh37	17	76497765	76497765	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	19	0	ENST00000389840.5:c.5280+68C>G		p.*1760*	ENST00000389840				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGCCCTG	NONE	.	.	.	.	.	ENSP00000472049	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000598378	Transcript	.	.	ENSG00000268470	48594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DNAH17-AS1	HGNC	M0R1Q4_HUMAN	.	UPI0000D623A2	SNV	DNAH17-AS1,3_prime_UTR_variant,,ENST00000598378,;DNAH17,intron_variant,,ENST00000585328,;DNAH17,intron_variant,,ENST00000389840,;RP11-559N14.5,downstream_gene_variant,,ENST00000591373,;DNAH17,downstream_gene_variant,,ENST00000587177,;	2855	19	24	SUCCESS
DNAH2	146754	.	GRCh37	17	7660453	7660453	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	131	0	ENST00000389173.2:c.1949T>A	p.Leu650Gln	p.L650Q	ENST00000389173	NM_020877.2	650	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS32551.1	1949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTGCTGT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF08385	.	.	ENSP00000458355	.	13/86	.	.	.	.	.	.	.	.	.	13/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Leu650Gln,ENST00000389173,;DNAH2,missense_variant,p.Leu650Gln,ENST00000572933,;RPL29P2,downstream_gene_variant,,ENST00000498671,;DNAH2,upstream_gene_variant,,ENST00000574518,;RPL29P2,downstream_gene_variant,,ENST00000488409,;	3409	131	68	SUCCESS
CBX2	84733	.	GRCh37	17	77756090	77756090	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	33	0	ENST00000310942.4:c.288+490C>T		p.*96*	ENST00000310942	NM_005189.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32757.1	.	MUTECT|MUSE	.	AGGGGCCTTGG	NONE	.	.	.	.	.	ENSP00000308750	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310942	Transcript	.	.	ENSG00000173894	1552	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBX2_HUMAN	CBX2	HGNC	.	.	UPI000004C4E1	SNV	CBX2,3_prime_UTR_variant,,ENST00000269399,;CBX2,intron_variant,,ENST00000310942,;CBX2,downstream_gene_variant,,ENST00000571484,;	.	33	22	SUCCESS
AZI1	0	.	GRCh37	17	79170793	79170793	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	94	220	0	ENST00000269392.4:c.1719G>C	p.Val573=	p.V573=	ENST00000269392	NM_014984.2	573	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS45808.1	1710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCATCACAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1	.	.	ENSP00000393583	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000450824	Transcript	.	.	ENSG00000141577	29511	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AZI1_HUMAN	AZI1	HGNC	.	.	UPI00002017B6	SNV	AZI1,synonymous_variant,p.%3D,ENST00000573053,;AZI1,synonymous_variant,p.%3D,ENST00000269392,;AZI1,synonymous_variant,p.%3D,ENST00000374782,;AZI1,synonymous_variant,p.%3D,ENST00000450824,;AZI1,synonymous_variant,p.%3D,ENST00000575907,;AZI1,upstream_gene_variant,,ENST00000571292,;AZI1,upstream_gene_variant,,ENST00000570817,;RP11-455O6.2,upstream_gene_variant,,ENST00000571085,;AZI1,downstream_gene_variant,,ENST00000570482,;	1889	220	214	SUCCESS
ALOX12B	242	.	GRCh37	17	7983459	7983459	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	69	0	ENST00000319144.4:c.754+94A>T		p.*252*	ENST00000319144	NM_001139.2	47		0	.	.	.	.	.	A	L/H	protein_coding	YES	.	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTCTCCC	NONE	.	.	.	.	.	ENSP00000382345	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000399413	Transcript	.	.	ENSG00000214999	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.65)	.	.	.	YQ037_HUMAN	AC129492.6	Clone_based_vega_gene	.	.	UPI0000D4AA7B	SNV	AC129492.6,missense_variant,p.Leu47His,ENST00000399413,;ALOX12B,intron_variant,,ENST00000319144,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000584116,;ALOX12B,upstream_gene_variant,,ENST00000583276,;	380	69	75	SUCCESS
ALOX12B	242	.	GRCh37	17	7989531	7989531	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	93	0	ENST00000319144.4:c.155A>T	p.Gln52Leu	p.Q52L	ENST00000319144	NM_001139.2	52	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11129.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACTGGCCC	NONE	.	.	PROSITE_profiles:PS50095,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723	.	.	ENSP00000315167	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000319144	Transcript	.	.	ENSG00000179477	430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.07)	.	LX12B_HUMAN	ALOX12B	HGNC	.	.	UPI000000D996	SNV	ALOX12B,missense_variant,p.Gln52Leu,ENST00000319144,;AC129492.6,downstream_gene_variant,,ENST00000399413,;MIR4314,upstream_gene_variant,,ENST00000583321,;	416	93	71	SUCCESS
FN3KRP	79672	.	GRCh37	17	80674715	80674715	+	synonymous_variant	Silent	SNP	C	C	T	rs777739924	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	190	528	1	ENST00000269373.6:c.84C>T	p.Gly28=	p.G28=	ENST00000269373	NM_024619.3	28	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS11817.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCCGGAG	NONE	.	.	hmmpanther:PTHR12149:SF6,hmmpanther:PTHR12149,Pfam_domain:PF03881,PIRSF_domain:PIRSF006221,Superfamily_domains:SSF56112	.	.	ENSP00000269373	.	1/6	.	.	.	.	.	.	.	.	rs777739924	1/6	PASS	ENST00000269373	Transcript	.	.	ENSG00000141560	25700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KT3K_HUMAN	FN3KRP	HGNC	I3L378_HUMAN,F5H4E4_HUMAN	.	UPI000006F7D6	SNV	FN3KRP,synonymous_variant,p.%3D,ENST00000269373,;FN3KRP,5_prime_UTR_variant,,ENST00000577128,;FN3KRP,5_prime_UTR_variant,,ENST00000573158,;FN3KRP,5_prime_UTR_variant,,ENST00000535965,;RP11-388C12.1,upstream_gene_variant,,ENST00000574471,;FN3KRP,synonymous_variant,p.%3D,ENST00000574832,;FN3KRP,synonymous_variant,p.%3D,ENST00000574206,;FN3KRP,synonymous_variant,p.%3D,ENST00000574356,;FN3KRP,upstream_gene_variant,,ENST00000571482,;	157	529	417	SUCCESS
ARHGEF15	22899	.	GRCh37	17	8215862	8215862	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs536515839	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	37	0	ENST00000361926.3:c.505G>C	p.Asp169His	p.D169H	ENST00000361926	NM_173728.3	169	Gat/Cat	0	.	T:0.0008	.	T:0	.	C	D/H	protein_coding	YES	CCDS11139.1	505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGATGCC	NONE	by1000G	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7	T:0	.	ENSP00000355026	T:0	2/16	.	.	.	.	.	.	.	.	rs536515839	2/16	PASS	ENST00000361926	Transcript	.	T:0.0002	ENSG00000198844	15590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	T:0	deleterious_low_confidence(0)	.	ARHGF_HUMAN	ARHGEF15	HGNC	J3QS60_HUMAN,J3KT46_HUMAN	.	UPI000013D2C0	SNV	ARHGEF15,missense_variant,p.Asp169His,ENST00000579439,;ARHGEF15,missense_variant,p.Asp169His,ENST00000361926,;ARHGEF15,missense_variant,p.Asp169His,ENST00000421050,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000581809,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;	615	37	36	SUCCESS
RCVRN	5957	.	GRCh37	17	9804355	9804355	+	synonymous_variant	Silent	SNP	C	C	T	rs144667256	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	94	0	ENST00000226193.5:c.444G>A	p.Pro148=	p.P148=	ENST00000226193	NM_002903.2	148	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS11151.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCGGCGT	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF20,hmmpanther:PTHR23055,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450	.	T:0.0001	ENSP00000226193	.	2/3	.	.	.	.	.	.	.	.	rs144667256	2/3	PASS	ENST00000226193	Transcript	.	.	ENSG00000109047	9937	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RECO_HUMAN	RCVRN	HGNC	Q53XL0_HUMAN,J3QL94_HUMAN	.	UPI0000000C33	SNV	RCVRN,synonymous_variant,p.%3D,ENST00000226193,;RCVRN,non_coding_transcript_exon_variant,,ENST00000570909,;	885	94	87	SUCCESS
IMPA2	3613	.	GRCh37	18	12009936	12009936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	90	0	ENST00000269159.3:c.285C>A	p.Ser95Arg	p.S95R	ENST00000269159	NM_014214.2	95	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS11855.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCCGAC	NONE	.	.	hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF29,Gene3D:3.30.540.10,Pfam_domain:PF00459,Superfamily_domains:SSF56655	.	.	ENSP00000269159	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000269159	Transcript	.	.	ENSG00000141401	6051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0.05)	.	IMPA2_HUMAN	IMPA2	HGNC	K7EII9_HUMAN	.	UPI000012FB90	SNV	IMPA2,missense_variant,p.Ser95Arg,ENST00000269159,;IMPA2,5_prime_UTR_variant,,ENST00000588927,;IMPA2,5_prime_UTR_variant,,ENST00000589238,;IMPA2,non_coding_transcript_exon_variant,,ENST00000588752,;IMPA2,missense_variant,p.Ser95Arg,ENST00000590107,;IMPA2,missense_variant,p.Ser3Arg,ENST00000586230,;IMPA2,missense_variant,p.Ser95Arg,ENST00000590138,;IMPA2,3_prime_UTR_variant,,ENST00000383376,;IMPA2,non_coding_transcript_exon_variant,,ENST00000588167,;IMPA2,non_coding_transcript_exon_variant,,ENST00000588863,;	527	90	81	SUCCESS
CEP192	55125	.	GRCh37	18	13113583	13113583	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	60	0	ENST00000506447.1:c.7048-2A>T		p.X2350_splice	ENST00000506447	NM_032142.3	2350		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32792.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTAGGTCT	NONE	.	.	.	.	.	ENSP00000427550	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	HIGH	40/44	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,splice_acceptor_variant,,ENST00000325971,;CEP192,splice_acceptor_variant,,ENST00000506447,;CEP192,splice_acceptor_variant,,ENST00000430049,;CEP192,splice_acceptor_variant,,ENST00000511820,;CEP192,splice_acceptor_variant,,ENST00000540847,;CEP192,splice_acceptor_variant,,ENST00000508539,;CEP192,upstream_gene_variant,,ENST00000513183,;CEP192,splice_acceptor_variant,,ENST00000513432,;CEP192,intron_variant,,ENST00000510237,;CEP192,intron_variant,,ENST00000589993,;	.	60	66	SUCCESS
MC5R	4161	.	GRCh37	18	13826194	13826194	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	95	0	ENST00000324750.3:c.430A>C	p.Ile144Leu	p.I144L	ENST00000324750	NM_005913.2	144	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS11868.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCATCTTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	.	.	ENSP00000318077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000324750	Transcript	.	.	ENSG00000176136	6933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0)	.	MC5R_HUMAN	MC5R	HGNC	K7ER30_HUMAN	.	UPI0000050405	SNV	MC5R,missense_variant,p.Ile144Leu,ENST00000324750,;MC5R,missense_variant,p.Ile144Leu,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	652	95	82	SUCCESS
HRH4	59340	.	GRCh37	18	22057255	22057255	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	160	0	ENST00000256906.4:c.902T>C	p.Leu301Ser	p.L301S	ENST00000256906	NM_021624.3	301	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS11887.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATTAGCCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF55,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01726	.	.	ENSP00000256906	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000256906	Transcript	.	.	ENSG00000134489	17383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	HRH4_HUMAN	HRH4	HGNC	.	.	UPI0000039A92	SNV	HRH4,missense_variant,p.Leu301Ser,ENST00000256906,;HRH4,missense_variant,p.Leu213Ser,ENST00000426880,;	1002	160	133	SUCCESS
ZNF521	25925	.	GRCh37	18	22805628	22805628	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768059407	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	74	1	ENST00000361524.3:c.2254T>A	p.Tyr752Asn	p.Y752N	ENST00000361524	NM_015461.2	752	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS32806.1	2254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATAGACTT	NONE	.	.	SMART_domains:SM00355,Pfam_domain:PF13894,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	rs768059407	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Tyr752Asn,ENST00000538137,;ZNF521,missense_variant,p.Tyr532Asn,ENST00000584787,;ZNF521,missense_variant,p.Tyr752Asn,ENST00000361524,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Tyr752Asn,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	2403	75	73	SUCCESS
KCTD1	284252	.	GRCh37	18	24126984	24126984	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	22	0	ENST00000317932.7:c.-15-45770A>T		p.*5*	ENST00000317932				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11888.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTGGGGG	NONE	.	.	.	.	.	ENSP00000384367	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408011	Transcript	.	.	ENSG00000134504	18249	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCTD1_HUMAN	KCTD1	HGNC	J3KSG1_HUMAN	.	UPI00001CDFF1	SNV	KCTD1,missense_variant,p.Gln506Leu,ENST00000417602,;KCTD1,5_prime_UTR_variant,,ENST00000580059,;KCTD1,intron_variant,,ENST00000579973,;KCTD1,intron_variant,,ENST00000580638,;KCTD1,intron_variant,,ENST00000317932,;KCTD1,intron_variant,,ENST00000408011,;KCTD1,intron_variant,,ENST00000580191,;KCTD1,upstream_gene_variant,,ENST00000578973,;	.	22	23	SUCCESS
MEP1B	4225	.	GRCh37	18	29793483	29793483	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	83	0	ENST00000269202.6:c.1540A>C	p.Asn514His	p.N514H	ENST00000269202	NM_005925.2	514	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS45846.1	1540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAATCAG	NONE	.	.	PROSITE_profiles:PS50144,hmmpanther:PTHR10127:SF312,hmmpanther:PTHR10127,Pfam_domain:PF00917,Gene3D:2.60.210.10,PIRSF_domain:PIRSF001196,SMART_domains:SM00061,Superfamily_domains:SSF49599	.	.	ENSP00000269202	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	tolerated(0.09)	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	SNV	MEP1B,missense_variant,p.Asn514His,ENST00000269202,;MEP1B,missense_variant,p.Asn514His,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;	1587	83	82	SUCCESS
CCDC178	374864	.	GRCh37	18	30554635	30554635	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	44	0	ENST00000383096.3:c.2399T>A	p.Leu800Gln	p.L800Q	ENST00000383096		800	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS42424.1	2399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGCTGA	NONE	.	.	.	.	.	ENSP00000372576	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Leu800Gln,ENST00000579947,;CCDC178,missense_variant,p.Leu120Gln,ENST00000579916,;CCDC178,missense_variant,p.Leu297Gln,ENST00000581524,;CCDC178,missense_variant,p.Leu5Gln,ENST00000581852,;CCDC178,missense_variant,p.Leu824Gln,ENST00000406524,;CCDC178,missense_variant,p.Leu800Gln,ENST00000403303,;CCDC178,missense_variant,p.Leu800Gln,ENST00000383096,;CCDC178,missense_variant,p.Leu750Gln,ENST00000402325,;CCDC178,missense_variant,p.Leu762Gln,ENST00000300227,;CCDC178,missense_variant,p.Leu824Gln,ENST00000583930,;	2582	44	42	SUCCESS
DCC	1630	.	GRCh37	18	50923756	50923756	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	165	0	ENST00000442544.2:c.2767A>T	p.Thr923Ser	p.T923S	ENST00000442544	NM_005215.3	923	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS11952.1	2767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAACAAAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0.04)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Thr558Ser,ENST00000581580,;DCC,missense_variant,p.Thr923Ser,ENST00000442544,;DCC,missense_variant,p.Thr751Ser,ENST00000412726,;DCC,missense_variant,p.Thr62Ser,ENST00000579941,;DCC,3_prime_UTR_variant,,ENST00000304775,;	3383	165	132	SUCCESS
EPB41L3	23136	.	GRCh37	18	5397253	5397253	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	84	0	ENST00000341928.2:c.2645C>A	p.Ala882Glu	p.A882E	ENST00000341928	NM_012307.3	882	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS11838.1	2645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGCTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,PIRSF_domain:PIRSF002304	.	.	ENSP00000343158	.	18/23	.	.	.	.	.	.	.	.	COSM709330	18/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated_low_confidence(0.15)	1	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Ala882Glu,ENST00000342933,;EPB41L3,missense_variant,p.Ala882Glu,ENST00000341928,;EPB41L3,missense_variant,p.Ala179Glu,ENST00000427684,;EPB41L3,missense_variant,p.Ala660Glu,ENST00000400111,;EPB41L3,missense_variant,p.Ala713Glu,ENST00000544123,;EPB41L3,missense_variant,p.Ala187Glu,ENST00000542146,;EPB41L3,missense_variant,p.Ala660Glu,ENST00000540638,;EPB41L3,upstream_gene_variant,,ENST00000579951,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578524,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581292,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,downstream_gene_variant,,ENST00000582729,;EPB41L3,downstream_gene_variant,,ENST00000578196,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000584055,;	2986	84	78	SUCCESS
MALT1	10892	.	GRCh37	18	56414872	56414872	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	86	1	ENST00000348428.3:c.2273A>G	p.His758Arg	p.H758R	ENST00000348428	NM_006785.3	758	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS11967.1	2273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCATGGTG	NONE	.	.	hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF20	.	.	ENSP00000319279	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000348428	Transcript	.	.	ENSG00000172175	6819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.36)	.	MALT1_HUMAN	MALT1	HGNC	K7EP42_HUMAN	.	UPI000004D05E	SNV	MALT1,missense_variant,p.His747Arg,ENST00000345724,;MALT1,missense_variant,p.His758Arg,ENST00000348428,;RP11-108P20.1,upstream_gene_variant,,ENST00000592021,;RP11-108P20.3,downstream_gene_variant,,ENST00000587011,;RP11-126O1.4,intron_variant,,ENST00000588835,;MALT1,non_coding_transcript_exon_variant,,ENST00000589873,;MALT1,downstream_gene_variant,,ENST00000587438,;	2531	87	88	SUCCESS
ADNP2	22850	.	GRCh37	18	77896097	77896097	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	53	0	ENST00000262198.4:c.2801A>G	p.His934Arg	p.H934R	ENST00000262198	NM_014913.3	934	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS32853.1	2801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCATTTGG	NONE	.	.	hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740	.	.	ENSP00000262198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262198	Transcript	.	.	ENSG00000101544	23803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ADNP2_HUMAN	ADNP2	HGNC	H0YLN6_HUMAN	.	UPI0000071DEA	SNV	ADNP2,missense_variant,p.His934Arg,ENST00000262198,;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;ADNP2,downstream_gene_variant,,ENST00000560752,;	3256	53	74	SUCCESS
SOGA2	0	.	GRCh37	18	8825710	8825710	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	87	279	1	ENST00000306329.11:c.5159C>A	p.Pro1720His	p.P1720H	ENST00000306329		1720	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS11841.1	4202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCAAAG	NONE	.	.	hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	.	ENSP00000352927	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	deleterious(0.03)	.	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,missense_variant,p.Pro726His,ENST00000518815,;SOGA2,missense_variant,p.Pro1401His,ENST00000359865,;SOGA2,missense_variant,p.Pro1360His,ENST00000517570,;SOGA2,missense_variant,p.Pro1360His,ENST00000400050,;SOGA2,missense_variant,p.Pro726His,ENST00000306285,;SOGA2,missense_variant,p.Pro1720His,ENST00000306329,;SOGA2,upstream_gene_variant,,ENST00000581670,;	4344	281	217	SUCCESS
RDH8	50700	.	GRCh37	19	10129508	10129508	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762655339	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	76	0	ENST00000171214.1:c.364G>T	p.Val122Phe	p.V122F	ENST00000171214	NM_015725.2	122	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS12223.2	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCGTCAAA	NONE	byFrequency	.	hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF259,Pfam_domain:PF00106,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000095,Superfamily_domains:SSF51735	.	.	ENSP00000466058	.	3/6	.	.	.	.	.	.	.	.	rs762655339	3/6	PASS	ENST00000591589	Transcript	.	.	ENSG00000080511	14423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	.	RDH8	HGNC	K7ELF7_HUMAN	.	UPI000059D661	SNV	RDH8,missense_variant,p.Val142Phe,ENST00000591589,;RDH8,missense_variant,p.Val122Phe,ENST00000171214,;RDH8,upstream_gene_variant,,ENST00000587782,;RDH8,intron_variant,,ENST00000589570,;	613	76	72	SUCCESS
ICAM5	7087	.	GRCh37	19	10404581	10404581	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147604357	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	50	0	ENST00000221980.4:c.1673G>T	p.Arg558Leu	p.R558L	ENST00000221980	NM_003259.3	558	cGg/cTg	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS12233.1	1673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGGGGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0.001	.	ENSP00000221980	A:0	7/11	.	.	.	.	.	.	.	.	rs147604357,COSM1254576	7/11	PASS	ENST00000221980	Transcript	.	A:0.0002	ENSG00000105376	5348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.029)	A:0	tolerated(0.07)	0,1	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,missense_variant,p.Arg558Leu,ENST00000221980,;ICAM5,downstream_gene_variant,,ENST00000587398,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	1736	50	39	SUCCESS
ECSIT	51295	.	GRCh37	19	11618657	11618657	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	49	0	ENST00000270517.7:c.805A>G	p.Ser269Gly	p.S269G	ENST00000270517	NM_016581.4	269	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS12262.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTCTGGA	NONE	.	.	hmmpanther:PTHR13113,Pfam_domain:PF14784	.	.	ENSP00000270517	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000270517	Transcript	.	.	ENSG00000130159	29548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0.04)	.	ECSIT_HUMAN	ECSIT	HGNC	K7EPL5_HUMAN,K7EM98_HUMAN,K7EJI1_HUMAN,J3KTF5_HUMAN	.	UPI0000072F31	SNV	ECSIT,missense_variant,p.Ser269Gly,ENST00000270517,;ECSIT,missense_variant,p.Ser55Gly,ENST00000417981,;ECSIT,missense_variant,p.Ser153Gly,ENST00000585318,;ECSIT,synonymous_variant,p.%3D,ENST00000592312,;ECSIT,intron_variant,,ENST00000252440,;ECSIT,intron_variant,,ENST00000591104,;ECSIT,intron_variant,,ENST00000588998,;ZNF653,upstream_gene_variant,,ENST00000293771,;ECSIT,non_coding_transcript_exon_variant,,ENST00000591352,;ZNF653,upstream_gene_variant,,ENST00000593191,;ECSIT,3_prime_UTR_variant,,ENST00000593231,;ECSIT,3_prime_UTR_variant,,ENST00000592571,;ZNF653,upstream_gene_variant,,ENST00000590548,;ZNF653,upstream_gene_variant,,ENST00000588541,;CTC-398G3.6,upstream_gene_variant,,ENST00000585656,;ECSIT,upstream_gene_variant,,ENST00000585898,;	941	49	34	SUCCESS
NANOS3	342977	.	GRCh37	19	13988465	13988465	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	71	0	ENST00000397555.2:c.346T>A	p.Tyr116Asn	p.Y116N	ENST00000397555	NM_001098622.2	116	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS42511.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTACACC	NONE	.	.	hmmpanther:PTHR12887:SF3,hmmpanther:PTHR12887	.	.	ENSP00000341992	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000339133	Transcript	.	.	ENSG00000187556	22048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	NANO3_HUMAN	NANOS3	HGNC	.	.	UPI0000366D46	SNV	NANOS3,missense_variant,p.Tyr135Asn,ENST00000339133,;NANOS3,missense_variant,p.Tyr116Asn,ENST00000397555,;C19orf57,downstream_gene_variant,,ENST00000454313,;C19orf57,downstream_gene_variant,,ENST00000586783,;C19orf57,downstream_gene_variant,,ENST00000591586,;C19orf57,downstream_gene_variant,,ENST00000588115,;C19orf57,downstream_gene_variant,,ENST00000346736,;MIR181D,downstream_gene_variant,,ENST00000384853,;MIR181C,downstream_gene_variant,,ENST00000384881,;NANOS3,intron_variant,,ENST00000591727,;NANOS3,intron_variant,,ENST00000591161,;C19orf57,downstream_gene_variant,,ENST00000586500,;	405	71	46	SUCCESS
CC2D1A	54862	.	GRCh37	19	14029727	14029727	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs369829647	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	61	194	0	ENST00000318003.7:c.1021G>T	p.Val341Leu	p.V341L	ENST00000318003	NM_017721.4	341	Gtg/Ttg	0	A:0	.	.	.	.	T	V/L	protein_coding	YES	CCDS42512.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGTGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7	.	A:0.0001	ENSP00000313601	.	10/29	.	.	.	.	.	.	.	.	rs369829647	10/29	PASS	ENST00000318003	Transcript	1	.	ENSG00000132024	30237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.35)	.	C2D1A_HUMAN	CC2D1A	HGNC	.	.	UPI0000203524	SNV	CC2D1A,missense_variant,p.Val341Leu,ENST00000589606,;CC2D1A,missense_variant,p.Val341Leu,ENST00000318003,;CC2D1A,upstream_gene_variant,,ENST00000587508,;CC2D1A,missense_variant,p.Val187Leu,ENST00000586955,;CC2D1A,splice_region_variant,,ENST00000585896,;CC2D1A,splice_region_variant,,ENST00000589138,;CC2D1A,upstream_gene_variant,,ENST00000589679,;CC2D1A,upstream_gene_variant,,ENST00000588932,;CC2D1A,upstream_gene_variant,,ENST00000589224,;	1262	194	155	SUCCESS
DAZAP1	26528	.	GRCh37	19	1434882	1434882	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	95	0	ENST00000233078.4:c.1195G>C	p.Val399Leu	p.V399L	ENST00000233078	NM_018959.2	399	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS12065.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACGTGCAA	NONE	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF259	.	.	ENSP00000233078	.	12/12	.	.	.	.	.	.	.	.	COSM3281901	12/12	PASS	ENST00000233078	Transcript	.	.	ENSG00000071626	2683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.695)	.	deleterious_low_confidence(0.01)	1	DAZP1_HUMAN	DAZAP1	HGNC	Q5IRM7_HUMAN,B3KS63_HUMAN	.	UPI00000728D6	SNV	DAZAP1,missense_variant,p.Val399Leu,ENST00000233078,;DAZAP1,missense_variant,p.Val198Leu,ENST00000587079,;DAZAP1,3_prime_UTR_variant,,ENST00000336761,;DAZAP1,3_prime_UTR_variant,,ENST00000591999,;RPS15,upstream_gene_variant,,ENST00000591804,;RPS15,upstream_gene_variant,,ENST00000593052,;RPS15,upstream_gene_variant,,ENST00000233609,;RPS15,upstream_gene_variant,,ENST00000586686,;DAZAP1,downstream_gene_variant,,ENST00000592453,;RPS15,upstream_gene_variant,,ENST00000589656,;RPS15,upstream_gene_variant,,ENST00000591032,;RPS15,upstream_gene_variant,,ENST00000586656,;RPS15,upstream_gene_variant,,ENST00000586096,;RPS15,upstream_gene_variant,,ENST00000585665,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000585485,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589874,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589484,;RPS15,upstream_gene_variant,,ENST00000592623,;RPS15,upstream_gene_variant,,ENST00000592588,;RPS15,upstream_gene_variant,,ENST00000592700,;	1356	95	73	SUCCESS
EMR3	0	.	GRCh37	19	14772862	14772862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	42	110	0	ENST00000253673.5:c.268G>A	p.Gly90Arg	p.G90R	ENST00000253673	NM_032571.3	90	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12315.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCTTCGA	BUFFER|p.V88V|c.264C>T|4	.	.	Superfamily_domains:SSF57196,Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178,PROSITE_profiles:PS50026	.	.	ENSP00000253673	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,missense_variant,p.Gly90Arg,ENST00000253673,;EMR3,5_prime_UTR_variant,,ENST00000599900,;EMR3,intron_variant,,ENST00000344373,;EMR3,intron_variant,,ENST00000443157,;	369	110	101	SUCCESS
SLC1A6	6511	.	GRCh37	19	15083653	15083653	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	37	96	1	ENST00000221742.3:c.70C>T	p.Gln24Ter	p.Q24*	ENST00000221742	NM_005071.2	24	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS12321.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTGCAGCC	NONE	.	.	hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29	.	.	ENSP00000221742	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,stop_gained,p.Gln24Ter,ENST00000594383,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000544886,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000601761,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000600144,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000597262,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000595863,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000221742,;SLC1A6,stop_gained,p.Gln24Ter,ENST00000598504,;SLC1A6,missense_variant,p.Ala28Val,ENST00000599636,;SLC1A6,missense_variant,p.Ala28Val,ENST00000430939,;SLC1A6,non_coding_transcript_exon_variant,,ENST00000596697,;	78	97	84	SUCCESS
CCDC105	126402	.	GRCh37	19	15122107	15122107	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	52	0	ENST00000292574.3:c.470A>G	p.Gln157Arg	p.Q157R	ENST00000292574	NM_173482.2	157	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS12322.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCAGCGCG	NONE	.	.	Pfam_domain:PF03148	.	.	ENSP00000292574	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000292574	Transcript	.	.	ENSG00000160994	26866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.26)	.	CC105_HUMAN	CCDC105	HGNC	.	.	UPI0000073091	SNV	CCDC105,missense_variant,p.Gln157Arg,ENST00000292574,;SLC1A6,intron_variant,,ENST00000595863,;SLC1A6,upstream_gene_variant,,ENST00000430939,;SLC1A6,upstream_gene_variant,,ENST00000599636,;	552	52	67	SUCCESS
NOTCH3	4854	.	GRCh37	19	15281192	15281192	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	79	0	ENST00000263388.2:c.5064T>C	p.Ser1688=	p.S1688=	ENST00000263388	NM_000435.2	1688	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS12326.1	5064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAGAGGC	NONE	.	.	PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47	.	.	ENSP00000263388	.	27/33	.	.	.	.	.	.	.	.	.	27/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,synonymous_variant,p.%3D,ENST00000263388,;NOTCH3,upstream_gene_variant,,ENST00000597756,;NOTCH3,upstream_gene_variant,,ENST00000595514,;	5140	79	49	SUCCESS
ANO8	57719	.	GRCh37	19	17441186	17441186	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	86	0	ENST00000159087.4:c.1121T>C	p.Leu374Pro	p.L374P	ENST00000159087	NM_020959.2	374	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS32949.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGAGCAAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF26,Pfam_domain:PF04547	.	.	ENSP00000159087	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000159087	Transcript	.	.	ENSG00000074855	29329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	ANO8_HUMAN	ANO8	HGNC	.	.	UPI00001C200F	SNV	ANO8,missense_variant,p.Leu374Pro,ENST00000159087,;GTPBP3,upstream_gene_variant,,ENST00000361619,;GTPBP3,upstream_gene_variant,,ENST00000598532,;ANO8,missense_variant,p.Leu374Pro,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000601213,;ANO8,downstream_gene_variant,,ENST00000600711,;	1280	86	69	SUCCESS
PIK3R2	5296	.	GRCh37	19	18273890	18273890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	45	165	0	ENST00000222254.8:c.1223A>G	p.Glu408Gly	p.E408G	ENST00000222254	NM_005027.3	408	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12371.1	1223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGAGTCTC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10155:SF1,hmmpanther:PTHR10155,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000222254	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000222254	Transcript	1	.	ENSG00000105647	8980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.705)	.	deleterious(0.02)	.	P85B_HUMAN	PIK3R2	HGNC	Q96CK7_HUMAN,M0QYU3_HUMAN	.	UPI000006EF95	SNV	PIK3R2,missense_variant,p.Glu408Gly,ENST00000222254,;PIK3R2,missense_variant,p.Glu408Gly,ENST00000593731,;PIK3R2,missense_variant,p.Glu408Gly,ENST00000426902,;PIK3R2,upstream_gene_variant,,ENST00000464016,;PIK3R2,downstream_gene_variant,,ENST00000474310,;PIK3R2,downstream_gene_variant,,ENST00000600533,;	1823	165	130	SUCCESS
ZNF708	7562	.	GRCh37	19	21477081	21477081	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	26	0	ENST00000356929.3:c.687T>A	p.Cys229Ter	p.C229*	ENST00000356929	NM_021269.2	229	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS32980.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCACATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,stop_gained,p.Cys229Ter,ENST00000356929,;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;	885	26	30	SUCCESS
ZNF676	163223	.	GRCh37	19	22375842	22375842	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1481320780	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	95	1	ENST00000397121.2:c.106C>A	p.His36Asn	p.H36N	ENST00000397121	NM_001001411.2	36	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS42539.1	106	RADIA|MUTECT|MUSE	.	CTCATGTCTCT	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,PROSITE_profiles:PS50805	.	.	ENSP00000380310	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.221)	.	tolerated(0.06)	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,missense_variant,p.His36Asn,ENST00000397121,;	424	96	57	SUCCESS
ZNF724P	0	.	GRCh37	19	23415022	23415022	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754374394	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	87	1	ENST00000418100.1:c.77A>G	p.Gln26Arg	p.Q26R	ENST00000418100		26	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	.	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGCTGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF101,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000413411	.	2/4	.	.	.	.	.	.	.	.	rs754374394	2/4	PASS	ENST00000418100	Transcript	.	.	ENSG00000196081	32460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	tolerated(0.48)	.	ZN724_HUMAN	ZNF724P	HGNC	M0R3J2_HUMAN	.	UPI0000EE61E4	SNV	ZNF724P,missense_variant,p.Gln20Arg,ENST00000597537,;ZNF724P,missense_variant,p.Gln26Arg,ENST00000418100,;ZNF724P,missense_variant,p.Gln26Arg,ENST00000597037,;RP11-15H20.3,upstream_gene_variant,,ENST00000601117,;	195	88	62	SUCCESS
THOP1	7064	.	GRCh37	19	2810300	2810300	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	50	0	ENST00000307741.6:c.1456-2A>T		p.X486_splice	ENST00000307741	NM_003249.3	486		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGGCGG	NONE	.	.	.	.	.	ENSP00000304467	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	.	.	HIGH	9/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	SNV	THOP1,splice_acceptor_variant,,ENST00000590970,;THOP1,splice_acceptor_variant,,ENST00000307741,;THOP1,splice_acceptor_variant,,ENST00000587401,;THOP1,splice_acceptor_variant,,ENST00000586677,;THOP1,splice_acceptor_variant,,ENST00000591363,;THOP1,5_prime_UTR_variant,,ENST00000395212,;THOP1,5_prime_UTR_variant,,ENST00000587468,;THOP1,splice_acceptor_variant,,ENST00000591149,;THOP1,splice_acceptor_variant,,ENST00000592639,;THOP1,splice_acceptor_variant,,ENST00000590533,;THOP1,splice_acceptor_variant,,ENST00000589087,;	.	50	42	SUCCESS
TLE2	7089	.	GRCh37	19	3019696	3019696	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	33	132	1	ENST00000262953.6:c.369+1G>T		p.X123_splice	ENST00000262953	NM_003260.4	123		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45911.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCCCGA	NONE	.	.	.	.	.	ENSP00000262953	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262953	Transcript	.	.	ENSG00000065717	11838	.	.	HIGH	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE2_HUMAN	TLE2	HGNC	.	.	UPI0000137038	SNV	TLE2,splice_donor_variant,,ENST00000455444,;TLE2,splice_donor_variant,,ENST00000592584,;TLE2,splice_donor_variant,,ENST00000262953,;TLE2,splice_donor_variant,,ENST00000590536,;TLE2,splice_donor_variant,,ENST00000591529,;TLE2,splice_donor_variant,,ENST00000426948,;TLE2,splice_donor_variant,,ENST00000589364,;TLE2,splice_donor_variant,,ENST00000443826,;TLE2,splice_donor_variant,,ENST00000586422,;TLE2,5_prime_UTR_variant,,ENST00000447365,;TLE2,intron_variant,,ENST00000591457,;TLE2,intron_variant,,ENST00000587137,;TLE2,splice_donor_variant,,ENST00000590183,;TLE2,splice_donor_variant,,ENST00000589291,;TLE2,splice_donor_variant,,ENST00000587217,;TLE2,upstream_gene_variant,,ENST00000589205,;TLE2,non_coding_transcript_exon_variant,,ENST00000590101,;TLE2,non_coding_transcript_exon_variant,,ENST00000592305,;TLE2,non_coding_transcript_exon_variant,,ENST00000591720,;TLE2,non_coding_transcript_exon_variant,,ENST00000587770,;TLE2,downstream_gene_variant,,ENST00000587893,;TLE2,upstream_gene_variant,,ENST00000587672,;	.	134	95	SUCCESS
CD22	933	.	GRCh37	19	35823773	35823773	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	83	0	ENST00000085219.5:c.358A>T	p.Arg120Trp	p.R120W	ENST00000085219	NM_001771.3	120	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12457.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGAGGATG	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000085219	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000085219	Transcript	.	.	ENSG00000012124	1643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD22_HUMAN	CD22	HGNC	Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN	.	UPI000012733D	SNV	CD22,missense_variant,p.Arg120Trp,ENST00000595780,;CD22,missense_variant,p.Arg120Trp,ENST00000341773,;CD22,missense_variant,p.Arg118Trp,ENST00000600131,;CD22,missense_variant,p.Arg120Trp,ENST00000594250,;CD22,missense_variant,p.Arg120Trp,ENST00000593867,;CD22,missense_variant,p.Arg118Trp,ENST00000600424,;CD22,missense_variant,p.Arg120Trp,ENST00000544992,;CD22,missense_variant,p.Arg120Trp,ENST00000085219,;CD22,missense_variant,p.Arg120Trp,ENST00000599811,;CD22,missense_variant,p.Arg120Trp,ENST00000536635,;CD22,missense_variant,p.Arg118Trp,ENST00000597916,;CD22,5_prime_UTR_variant,,ENST00000270311,;CD22,5_prime_UTR_variant,,ENST00000419549,;CD22,downstream_gene_variant,,ENST00000598537,;U62631.5,downstream_gene_variant,,ENST00000597110,;CD22,non_coding_transcript_exon_variant,,ENST00000597433,;CD22,non_coding_transcript_exon_variant,,ENST00000598138,;CD22,non_coding_transcript_exon_variant,,ENST00000601732,;CD22,non_coding_transcript_exon_variant,,ENST00000595419,;CD22,non_coding_transcript_exon_variant,,ENST00000601414,;CD22,non_coding_transcript_exon_variant,,ENST00000600905,;CD22,intron_variant,,ENST00000601329,;CD22,intron_variant,,ENST00000598815,;CD22,intron_variant,,ENST00000598028,;CD22,missense_variant,p.Arg118Trp,ENST00000601769,;CD22,missense_variant,p.Arg109Trp,ENST00000594349,;CD22,3_prime_UTR_variant,,ENST00000599717,;CD22,non_coding_transcript_exon_variant,,ENST00000602224,;CD22,non_coding_transcript_exon_variant,,ENST00000596492,;CD22,intron_variant,,ENST00000600655,;CD22,downstream_gene_variant,,ENST00000599799,;CD22,downstream_gene_variant,,ENST00000594954,;	424	83	73	SUCCESS
APLP1	333	.	GRCh37	19	36370026	36370026	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	42	0	ENST00000221891.4:c.1764C>A	p.Ile588=	p.I588=	ENST00000221891	NM_001024807.1	588	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS32997.1	1764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCATGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23103:SF13,hmmpanther:PTHR23103,Prints_domain:PR00203	.	.	ENSP00000221891	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000221891	Transcript	.	.	ENSG00000105290	597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APLP1_HUMAN	APLP1	HGNC	K7EQJ4_HUMAN,K7ELK0_HUMAN,A4UCT6_HUMAN	.	UPI000020215E	SNV	APLP1,synonymous_variant,p.%3D,ENST00000587274,;APLP1,synonymous_variant,p.%3D,ENST00000221891,;APLP1,synonymous_variant,p.%3D,ENST00000586861,;APLP1,synonymous_variant,p.%3D,ENST00000588808,;APLP1,synonymous_variant,p.%3D,ENST00000537454,;APLP1,downstream_gene_variant,,ENST00000592316,;RN7SL402P,upstream_gene_variant,,ENST00000465059,;APLP1,upstream_gene_variant,,ENST00000591165,;APLP1,downstream_gene_variant,,ENST00000589298,;APLP1,3_prime_UTR_variant,,ENST00000590561,;APLP1,non_coding_transcript_exon_variant,,ENST00000590926,;	1956	42	19	SUCCESS
ZNF529	57711	.	GRCh37	19	37047079	37047079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	112	242	1	ENST00000591340.1:c.35A>G	p.His12Arg	p.H12R	ENST00000591340	NM_020951.4	12	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS54256.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATGGACA	NONE	.	.	.	.	.	ENSP00000465578	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000591340	Transcript	.	.	ENSG00000186020	29328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated_low_confidence(0.37)	.	ZN529_HUMAN	ZNF529	HGNC	K7ESA1_HUMAN,K7ELR0_HUMAN,K7EKM0_HUMAN	.	UPI00002021C4	SNV	ZNF529,missense_variant,p.His12Arg,ENST00000591340,;ZNF529,missense_variant,p.His12Arg,ENST00000585983,;ZNF529,5_prime_UTR_variant,,ENST00000585960,;ZNF529,5_prime_UTR_variant,,ENST00000334116,;ZNF529,intron_variant,,ENST00000586115,;	194	244	271	SUCCESS
HKR1	0	.	GRCh37	19	37854185	37854185	+	synonymous_variant	Silent	SNP	A	A	T	rs766387092	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	46	93	0	ENST00000324411.4:c.1488A>T	p.Pro496=	p.P496=	ENST00000324411	NM_181786.2	496	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12502.1	1488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCATTTGT	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129,PROSITE_profiles:PS50157	.	.	ENSP00000315505	.	6/6	.	.	.	.	.	.	.	.	rs766387092	6/6	PASS	ENST00000324411	Transcript	.	.	ENSG00000181666	4928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HKR1_HUMAN	HKR1	HGNC	Q7Z6E1_HUMAN,K7EM51_HUMAN,K7EL22_HUMAN,K7EJS1_HUMAN,F5H6A5_HUMAN	.	UPI00001AE470	SNV	HKR1,synonymous_variant,p.%3D,ENST00000541583,;HKR1,synonymous_variant,p.%3D,ENST00000544914,;HKR1,synonymous_variant,p.%3D,ENST00000324411,;HKR1,synonymous_variant,p.%3D,ENST00000392153,;HKR1,synonymous_variant,p.%3D,ENST00000589392,;HKR1,synonymous_variant,p.%3D,ENST00000591471,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,;	1757	93	117	SUCCESS
WDR87	83889	.	GRCh37	19	38377306	38377306	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	86	207	1	ENST00000303868.5:c.6888G>A	p.Lys2296=	p.K2296=	ENST00000303868	NM_031951.3	2296	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS46063.1	6888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTTCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,synonymous_variant,p.%3D,ENST00000447313,;WDR87,synonymous_variant,p.%3D,ENST00000303868,;	7113	208	194	SUCCESS
YIF1B	90522	.	GRCh37	19	38798334	38798334	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750308729	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	88	1	ENST00000339413.6:c.598G>A	p.Glu200Lys	p.E200K	ENST00000339413	NM_001039673.2	200	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33010.1	598	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCCAGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14083,hmmpanther:PTHR14083:SF1,Pfam_domain:PF03878	.	.	ENSP00000343435	.	6/8	.	.	.	.	.	.	.	.	rs750308729	6/8	PASS	ENST00000339413	Transcript	.	.	ENSG00000167645	30511	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	YIF1B_HUMAN	YIF1B	HGNC	K7EJQ6_HUMAN	.	UPI00005AB2F2	SNV	YIF1B,missense_variant,p.Glu134Lys,ENST00000592246,;YIF1B,missense_variant,p.Glu197Lys,ENST00000337679,;YIF1B,missense_variant,p.Glu169Lys,ENST00000592694,;YIF1B,missense_variant,p.Glu185Lys,ENST00000329420,;YIF1B,missense_variant,p.Glu200Lys,ENST00000339413,;YIF1B,missense_variant,p.Glu183Lys,ENST00000589247,;YIF1B,missense_variant,p.Glu169Lys,ENST00000591784,;YIF1B,missense_variant,p.Glu169Lys,ENST00000392124,;YIF1B,missense_variant,p.Glu197Lys,ENST00000591755,;YIF1B,intron_variant,,ENST00000588002,;C19orf33,downstream_gene_variant,,ENST00000588605,;C19orf33,downstream_gene_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589644,;YIF1B,non_coding_transcript_exon_variant,,ENST00000585563,;YIF1B,upstream_gene_variant,,ENST00000589151,;C19orf33,downstream_gene_variant,,ENST00000591852,;C19orf33,downstream_gene_variant,,ENST00000589986,;	644	90	57	SUCCESS
DLL3	10683	.	GRCh37	19	39994714	39994714	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	30	1	ENST00000205143.4:c.656T>A	p.Val219Glu	p.V219E	ENST00000205143	NM_016941.3	219	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS12538.1	656	SOMATICSNIPER|VARSCANS	.	AGTGGTGTGCC	NONE	.	.	SMART_domains:SM00181,hmmpanther:PTHR24838:SF115,hmmpanther:PTHR24838,PROSITE_profiles:PS50026	.	.	ENSP00000205143	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000205143	Transcript	1	.	ENSG00000090932	2909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.103)	.	tolerated(0.07)	.	DLL3_HUMAN	DLL3	HGNC	.	.	UPI0000051041	SNV	DLL3,missense_variant,p.Val219Glu,ENST00000205143,;DLL3,missense_variant,p.Val219Glu,ENST00000356433,;DLL3,intron_variant,,ENST00000596614,;DLL3,downstream_gene_variant,,ENST00000600579,;DLL3,non_coding_transcript_exon_variant,,ENST00000600437,;	663	31	28	SUCCESS
SPTBN4	57731	.	GRCh37	19	41071395	41071395	+	synonymous_variant	Silent	SNP	G	G	A	rs1254642669	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	101	0	ENST00000352632.3:c.5982G>A	p.Arg1994=	p.R1994=	ENST00000352632		1994	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12559.1	5982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGGGTGCC	BUFFER|p.A1993V|c.5978C>T|3	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000263373	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,synonymous_variant,p.%3D,ENST00000338932,;SPTBN4,synonymous_variant,p.%3D,ENST00000352632,;SPTBN4,synonymous_variant,p.%3D,ENST00000598249,;SPTBN4,synonymous_variant,p.%3D,ENST00000392025,;SPTBN4,downstream_gene_variant,,ENST00000392023,;SPTBN4,downstream_gene_variant,,ENST00000595535,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;	6068	101	112	SUCCESS
LTBP4	8425	.	GRCh37	19	41133127	41133127	+	synonymous_variant	Silent	SNP	C	C	T	rs766181550	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	39	0	ENST00000308370.7:c.4431C>T	p.Asp1477=	p.D1477=	ENST00000308370	NM_001042544.1	1477	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	.	4431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACGATGG	NONE	.	.	hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41	.	.	ENSP00000311905	.	32/34	.	.	.	.	.	.	.	.	rs766181550,COSM3404247,COSM3404246	32/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,synonymous_variant,p.%3D,ENST00000396819,;LTBP4,synonymous_variant,p.%3D,ENST00000545697,;LTBP4,synonymous_variant,p.%3D,ENST00000204005,;LTBP4,synonymous_variant,p.%3D,ENST00000308370,;LTBP4,synonymous_variant,p.%3D,ENST00000601032,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000597071,;LTBP4,downstream_gene_variant,,ENST00000599724,;LTBP4,downstream_gene_variant,,ENST00000593463,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000599225,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,downstream_gene_variant,,ENST00000597603,;LTBP4,downstream_gene_variant,,ENST00000595183,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,downstream_gene_variant,,ENST00000597816,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000598178,;LTBP4,downstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000595665,;LTBP4,downstream_gene_variant,,ENST00000594116,;LTBP4,downstream_gene_variant,,ENST00000597151,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000594266,;	4431	39	37	SUCCESS
CYP2B7P	1556	.	GRCh37	19	41455083	41455083	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	81	1	ENST00000599198.1:n.1474G>A		p.*492*	ENST00000599198				0	.	.	.	.	.	A	.	sense_intronic	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGAGTGT	NONE	.	1728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000597260	Transcript	.	.	ENSG00000269353	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC092071.1	Clone_based_vega_gene	.	.	.	SNV	AC092071.1,downstream_gene_variant,,ENST00000597260,;CYP2B7P,non_coding_transcript_exon_variant,,ENST00000599198,;CYP2B7P,downstream_gene_variant,,ENST00000602646,;CYP2B7P,non_coding_transcript_exon_variant,,ENST00000600518,;CYP2B7P,non_coding_transcript_exon_variant,,ENST00000541697,;	.	83	49	SUCCESS
GRIK5	2901	.	GRCh37	19	42510881	42510881	+	synonymous_variant	Silent	SNP	A	A	G	rs782710347	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	53	0	ENST00000262895.3:c.1953T>C	p.Pro651=	p.P651=	ENST00000262895	NM_002088.4	651	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS12595.1	1953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGGCAC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000262895	.	15/19	.	.	.	.	.	.	.	.	rs782710347	15/19	PASS	ENST00000262895	Transcript	.	.	ENSG00000105737	4583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK5_HUMAN	GRIK5	HGNC	.	.	UPI000013D353	SNV	GRIK5,synonymous_variant,p.%3D,ENST00000301218,;GRIK5,synonymous_variant,p.%3D,ENST00000593562,;GRIK5,synonymous_variant,p.%3D,ENST00000262895,;GRIK5,non_coding_transcript_exon_variant,,ENST00000454993,;GRIK5,upstream_gene_variant,,ENST00000602210,;	1953	53	45	SUCCESS
CIC	23152	.	GRCh37	19	42795109	42795109	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752503838	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	102	0	ENST00000575354.2:c.2189C>G	p.Ser730Trp	p.S730W	ENST00000575354	NM_015125.3	730	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS12601.1	2189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTCGGACA	NONE	.	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	.	.	ENSP00000458663	.	10/20	.	.	.	.	.	.	.	.	rs752503838	10/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,missense_variant,p.Ser730Trp,ENST00000575354,;CIC,missense_variant,p.Ser1639Trp,ENST00000572681,;CIC,missense_variant,p.Ser730Trp,ENST00000160740,;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;CIC,downstream_gene_variant,,ENST00000575839,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;	2229	102	99	SUCCESS
CEACAM1	634	.	GRCh37	19	43013273	43013273	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	55	142	0	ENST00000161559.6:c.1569A>G	p.Val523=	p.V523=	ENST00000161559	NM_001712.4	523	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS12609.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTACTTC	NONE	.	.	.	.	.	ENSP00000161559	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000161559	Transcript	.	.	ENSG00000079385	1814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM1_HUMAN	CEACAM1	HGNC	M0R2K4_HUMAN,M0R109_HUMAN	.	UPI0000127483	SNV	CEACAM1,synonymous_variant,p.%3D,ENST00000161559,;CEACAM1,synonymous_variant,p.%3D,ENST00000351134,;CEACAM1,synonymous_variant,p.%3D,ENST00000352591,;CEACAM1,synonymous_variant,p.%3D,ENST00000358394,;CEACAM1,3_prime_UTR_variant,,ENST00000403444,;CEACAM1,3_prime_UTR_variant,,ENST00000403461,;CEACAM1,downstream_gene_variant,,ENST00000599389,;CEACAM1,downstream_gene_variant,,ENST00000308072,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000457234,;LIPE-AS1,intron_variant,,ENST00000594624,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000488639,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000465051,;CEACAM1,downstream_gene_variant,,ENST00000485605,;	1704	142	115	SUCCESS
PSG1	5669	.	GRCh37	19	43372126	43372126	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	42	0	ENST00000436291.2:c.1243+127T>A		p.*415*	ENST00000436291	NM_001184826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12612.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGAGAATT	NONE	.	.	.	.	.	ENSP00000244296	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000244296	Transcript	.	.	ENSG00000231924	9514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSG1_HUMAN	PSG1	HGNC	Q9UMI0_HUMAN,M0QY44_HUMAN	.	UPI0000001071	SNV	PSG1,3_prime_UTR_variant,,ENST00000244296,;PSG1,intron_variant,,ENST00000595356,;PSG1,intron_variant,,ENST00000312439,;PSG1,intron_variant,,ENST00000436291,;PSG1,intron_variant,,ENST00000595124,;PSG1,intron_variant,,ENST00000403380,;PSG1,downstream_gene_variant,,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,intron_variant,,ENST00000602039,;	1508	42	33	SUCCESS
IRGC	56269	.	GRCh37	19	44223324	44223324	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs574684743	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	32	0	ENST00000244314.5:c.614C>A	p.Ala205Asp	p.A205D	ENST00000244314	NM_019612.3	205	gCc/gAc	0	.	T:0	.	T:0	.	A	A/D	protein_coding	YES	CCDS12629.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCGGCG	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51716,hmmpanther:PTHR32341:SF7,hmmpanther:PTHR32341,Gene3D:3.40.50.300,Pfam_domain:PF05049,Superfamily_domains:SSF52540	T:0	.	ENSP00000244314	T:0	2/2	.	.	.	.	.	.	.	.	rs574684743	2/2	PASS	ENST00000244314	Transcript	.	T:0.0004	ENSG00000124449	28835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	T:0.002	tolerated(0.28)	.	IIGP5_HUMAN	IRGC	HGNC	J7NNX4_HUMAN	.	UPI000011DFC0	SNV	IRGC,missense_variant,p.Ala242Asp,ENST00000596627,;IRGC,missense_variant,p.Ala205Asp,ENST00000244314,;	813	32	32	SUCCESS
SMG9	56006	.	GRCh37	19	44241827	44241827	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	88	0	ENST00000270066.6:c.917A>T	p.Gln306Leu	p.Q306L	ENST00000270066	NM_019108.2	306	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33043.2	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTGGAGT	NONE	.	.	Gene3D:3.40.50.300,Pfam_domain:PF10220,hmmpanther:PTHR14270,hmmpanther:PTHR14270:SF0	.	.	ENSP00000270066	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000270066	Transcript	.	.	ENSG00000105771	25763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	SMG9_HUMAN	SMG9	HGNC	M0R2N0_HUMAN,M0QZH1_HUMAN,M0QZC7_HUMAN,M0QYR7_HUMAN,M0QX70_HUMAN	.	UPI0000037B1C	SNV	SMG9,missense_variant,p.Gln306Leu,ENST00000270066,;SMG9,missense_variant,p.Gln306Leu,ENST00000601170,;SMG9,3_prime_UTR_variant,,ENST00000597598,;SMG9,upstream_gene_variant,,ENST00000594081,;SMG9,upstream_gene_variant,,ENST00000600097,;SMG9,upstream_gene_variant,,ENST00000598860,;SMG9,downstream_gene_variant,,ENST00000595700,;	1260	88	67	SUCCESS
LYPD5	284348	.	GRCh37	19	44306498	44306498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	62	0	ENST00000377950.3:c.35G>T	p.Cys12Phe	p.C12F	ENST00000377950	NM_001031749.2	12	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS46096.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCAGAGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10624:SF4,hmmpanther:PTHR10624	.	.	ENSP00000367185	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000377950	Transcript	.	.	ENSG00000159871	26397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.07)	.	LYPD5_HUMAN	LYPD5	HGNC	M0R1J4_HUMAN,M0QYY3_HUMAN	.	UPI00006A77F6	SNV	LYPD5,missense_variant,p.Cys12Phe,ENST00000377950,;LYPD5,intron_variant,,ENST00000594049,;LYPD5,intron_variant,,ENST00000414615,;LYPD5,intron_variant,,ENST00000602179,;LYPD5,upstream_gene_variant,,ENST00000594013,;LYPD5,upstream_gene_variant,,ENST00000595666,;LYPD5,upstream_gene_variant,,ENST00000601224,;	116	62	34	SUCCESS
ZNF285	26974	.	GRCh37	19	44892183	44892183	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	63	182	0	ENST00000330997.4:c.224A>C	p.Gln75Pro	p.Q75P	ENST00000330997	NM_152354.3	75	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS12638.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTGCCAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402:SF173,hmmpanther:PTHR24402	.	.	ENSP00000333595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330997	Transcript	.	.	ENSG00000267508	13079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	ZN285_HUMAN	ZNF285	HGNC	K7ERT5_HUMAN	.	UPI0000456CDE	SNV	ZNF285,missense_variant,p.Gln82Pro,ENST00000591679,;ZNF285,missense_variant,p.Gln75Pro,ENST00000544719,;ZNF285,missense_variant,p.Gln75Pro,ENST00000330997,;ZNF285,5_prime_UTR_variant,,ENST00000585868,;CTC-512J12.6,intron_variant,,ENST00000588212,;CTC-512J12.4,downstream_gene_variant,,ENST00000588655,;ZNF285,3_prime_UTR_variant,,ENST00000589738,;	289	182	159	SUCCESS
PLIN4	729359	.	GRCh37	19	4510630	4510630	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	62	0	ENST00000301286.3:c.3300G>T	p.Lys1100Asn	p.K1100N	ENST00000301286	NM_001080400.1	1100	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS45927.1	3300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCTTGGT	NONE	.	.	hmmpanther:PTHR14024:SF24,hmmpanther:PTHR14024	.	.	ENSP00000301286	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000301286	Transcript	.	.	ENSG00000167676	29393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.06)	.	PLIN4_HUMAN	PLIN4	HGNC	B4DHR7_HUMAN	.	UPI00001D822A	SNV	PLIN4,missense_variant,p.Lys1100Asn,ENST00000301286,;	3300	62	58	SUCCESS
PNMAL1	0	.	GRCh37	19	46974216	46974216	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754215650	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	101	1	ENST00000313683.10:c.77T>C	p.Leu26Ser	p.L26S	ENST00000313683	NM_018215.3	26	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS33059.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAACAAG	NONE	byFrequency	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21,Pfam_domain:PF14893	.	.	ENSP00000318131	.	2/3	.	.	.	.	.	.	.	.	rs754215650	2/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0)	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,missense_variant,p.Leu26Ser,ENST00000602246,;PNMAL1,missense_variant,p.Leu26Ser,ENST00000438932,;PNMAL1,missense_variant,p.Leu26Ser,ENST00000313683,;	383	102	93	SUCCESS
DHX34	9704	.	GRCh37	19	47856186	47856186	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs151202313	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	31	0	ENST00000328771.4:c.-102T>G		p.*34*	ENST00000328771	NM_014681.5			0	.	C:0	.	C:0	.	G	.	protein_coding	YES	CCDS12700.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTCTATT	NONE	byFrequency|by1000G	.	.	C:0.003	.	ENSP00000331907	C:0	2/17	.	.	.	.	.	.	.	.	rs151202313	2/17	PASS	ENST00000328771	Transcript	.	C:0.0006	ENSG00000134815	16719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	DHX34_HUMAN	DHX34	HGNC	.	.	UPI0000202759	SNV	DHX34,5_prime_UTR_variant,,ENST00000328771,;	248	31	35	SUCCESS
GLTSCR1	0	.	GRCh37	19	48185325	48185325	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	33	0	ENST00000396720.3:c.2199A>T	p.Pro733=	p.P733=	ENST00000396720	NM_015711.3	733	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS46134.1	2199	RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGCCCC	NONE	.	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572,Low_complexity_(Seg):seg	.	.	ENSP00000379946	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;GLTSCR1,downstream_gene_variant,,ENST00000594866,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	2393	33	15	SUCCESS
CABP5	56344	.	GRCh37	19	48537602	48537602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	94	0	ENST00000293255.2:c.366T>A	p.Asp122Glu	p.D122E	ENST00000293255	NM_019855.4	122	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS12709.1	366	MUTECT|MUSE	.	TCCCCATCTCC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF60,hmmpanther:PTHR23050,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000293255	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000293255	Transcript	.	.	ENSG00000105507	13714	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.791)	.	deleterious(0.01)	.	CABP5_HUMAN	CABP5	HGNC	.	.	UPI0000126D6A	SNV	CABP5,missense_variant,p.Asp122Glu,ENST00000293255,;	497	94	71	SUCCESS
BCAT2	587	.	GRCh37	19	49309901	49309901	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	57	0	ENST00000316273.6:c.173G>C	p.Gly58Ala	p.G58A	ENST00000316273	NM_001190.3	58	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS12735.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCCAAAC	NONE	.	.	Superfamily_domains:SSF56752,PIRSF_domain:PIRSF006468,Gene3D:3.30.470.10,hmmpanther:PTHR11825:SF2,hmmpanther:PTHR11825	.	.	ENSP00000322991	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000316273	Transcript	.	.	ENSG00000105552	977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BCAT2_HUMAN	BCAT2	HGNC	M0R2K7_HUMAN,B3KSI3_HUMAN	.	UPI00001267CC	SNV	BCAT2,missense_variant,p.Gly18Ala,ENST00000402551,;BCAT2,missense_variant,p.Gly18Ala,ENST00000597011,;BCAT2,missense_variant,p.Gly18Ala,ENST00000601681,;BCAT2,missense_variant,p.Gly58Ala,ENST00000316273,;BCAT2,missense_variant,p.Gly58Ala,ENST00000598162,;BCAT2,missense_variant,p.Gly50Ala,ENST00000593515,;BCAT2,intron_variant,,ENST00000599246,;BCAT2,intron_variant,,ENST00000545387,;BCAT2,downstream_gene_variant,,ENST00000601496,;BCAT2,downstream_gene_variant,,ENST00000596981,;BCAT2,non_coding_transcript_exon_variant,,ENST00000595376,;	186	57	56	SUCCESS
ZNF473	25888	.	GRCh37	19	50549039	50549039	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	97	1	ENST00000270617.3:c.1339A>G	p.Asn447Asp	p.N447D	ENST00000270617	NM_015428.1	447	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS33077.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTAATGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF112,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472808	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000595661	Transcript	.	.	ENSG00000142528	23239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.13)	.	ZN473_HUMAN	ZNF473	HGNC	M0R032_HUMAN,M0QZY7_HUMAN,F8WEC7_HUMAN	.	UPI000006ED91	SNV	ZNF473,missense_variant,p.Asn447Asp,ENST00000270617,;ZNF473,missense_variant,p.Asn447Asp,ENST00000595661,;ZNF473,missense_variant,p.Asn447Asp,ENST00000391821,;ZNF473,missense_variant,p.Asn435Asp,ENST00000445728,;ZNF473,intron_variant,,ENST00000601364,;ZNF473,downstream_gene_variant,,ENST00000598809,;ZNF473,downstream_gene_variant,,ENST00000599155,;CTD-2126E3.3,intron_variant,,ENST00000599410,;CTD-2126E3.3,intron_variant,,ENST00000599914,;CTD-2126E3.1,upstream_gene_variant,,ENST00000527209,;ZNF473,downstream_gene_variant,,ENST00000594968,;ZNF473,downstream_gene_variant,,ENST00000598802,;	1834	98	99	SUCCESS
LRRC4B	94030	.	GRCh37	19	51022208	51022208	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	70	0	ENST00000389201.3:c.762C>T	p.Ser254=	p.S254=	ENST00000389201	NM_001080457.1	254	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42595.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGCTGGT	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF7,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000471502	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000599957	Transcript	.	.	ENSG00000131409	25042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC4B_HUMAN	LRRC4B	HGNC	M0R2G0_HUMAN,A0PJJ4_HUMAN	.	UPI00000497E7	SNV	LRRC4B,synonymous_variant,p.%3D,ENST00000389201,;LRRC4B,synonymous_variant,p.%3D,ENST00000599957,;LRRC4B,downstream_gene_variant,,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000376916,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000601287,;	960	70	62	SUCCESS
SYT3	84258	.	GRCh37	19	51128790	51128790	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	103	0	ENST00000338916.4:c.1434G>T	p.Glu478Asp	p.E478D	ENST00000338916	NM_032298.2	478	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS12798.1	1434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCTCGCT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000340914	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000338916	Transcript	.	.	ENSG00000213023	11511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	SYT3_HUMAN	SYT3	HGNC	M0QY70_HUMAN	.	UPI0000047AEB	SNV	SYT3,missense_variant,p.Glu478Asp,ENST00000593901,;SYT3,missense_variant,p.Glu478Asp,ENST00000600079,;SYT3,missense_variant,p.Glu478Asp,ENST00000544769,;SYT3,missense_variant,p.Glu478Asp,ENST00000338916,;SYT3,non_coding_transcript_exon_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	2068	103	75	SUCCESS
SIGLEC7	27036	.	GRCh37	19	51645871	51645871	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	125	0	ENST00000317643.6:c.245A>T	p.Asn82Ile	p.N82I	ENST00000317643	NM_014385.3	82	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS12826.1	245	RADIA|MUTECT|MUSE|VARSCANS	.	AAACAACCCAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12035:SF43,hmmpanther:PTHR12035	.	.	ENSP00000323328	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000317643	Transcript	.	.	ENSG00000168995	10876	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.525)	.	deleterious(0.05)	.	SIGL7_HUMAN	SIGLEC7	HGNC	.	.	UPI000011B40B	SNV	SIGLEC7,missense_variant,p.Asn82Ile,ENST00000601682,;SIGLEC7,missense_variant,p.Asn82Ile,ENST00000305628,;SIGLEC7,missense_variant,p.Asn82Ile,ENST00000600577,;SIGLEC7,missense_variant,p.Asn82Ile,ENST00000317643,;SIGLEC7,missense_variant,p.Asn82Ile,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;SIGLEC19P,upstream_gene_variant,,ENST00000600623,;CTD-3187F8.15,downstream_gene_variant,,ENST00000601996,;	314	125	88	SUCCESS
HAS1	3036	.	GRCh37	19	52219555	52219555	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	145	0	ENST00000222115.1:c.1015G>T	p.Asp339Tyr	p.D339Y	ENST00000222115	NM_001523.2	339	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS12838.1	1015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCATCCC	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4,Gene3D:3.90.550.10,Pfam_domain:PF13641,Superfamily_domains:SSF53448	.	.	ENSP00000222115	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,missense_variant,p.Asp338Tyr,ENST00000540069,;HAS1,missense_variant,p.Asp339Tyr,ENST00000222115,;HAS1,missense_variant,p.Asp346Tyr,ENST00000601714,;HAS1,missense_variant,p.Asp125Tyr,ENST00000601667,;HAS1,intron_variant,,ENST00000594621,;SPACA6P,downstream_gene_variant,,ENST00000573896,;	1050	145	95	SUCCESS
HAS1	3036	.	GRCh37	19	52223156	52223156	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	16	0	ENST00000222115.1:c.10-5C>A		p.X4_splice	ENST00000222115	NM_001523.2	4		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12838.1	.	MUTECT|MUSE	.	GCTGGGAGCGA	NONE	.	.	.	.	.	ENSP00000222115	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	LOW	1/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,missense_variant,p.Ser9Tyr,ENST00000601714,;HAS1,splice_region_variant,,ENST00000540069,;HAS1,splice_region_variant,,ENST00000222115,;HAS1,upstream_gene_variant,,ENST00000594621,;HAS1,upstream_gene_variant,,ENST00000601667,;	.	16	9	SUCCESS
ZNF28	7576	.	GRCh37	19	53303548	53303548	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs369691107	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	98	0	ENST00000457749.2:c.1550A>G	p.His517Arg	p.H517R	ENST00000457749	NM_006969.3	517	cAt/cGt	0	C:0.0002	.	.	.	.	C	H/R	protein_coding	YES	CCDS33093.2	1550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTATGAACT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	C:0	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	rs369691107	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	deleterious(0)	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,missense_variant,p.His464Arg,ENST00000391783,;ZNF28,missense_variant,p.His464Arg,ENST00000360272,;ZNF28,missense_variant,p.His517Arg,ENST00000457749,;ZNF28,missense_variant,p.His464Arg,ENST00000414252,;ZNF28,missense_variant,p.His464Arg,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;	1670	98	63	SUCCESS
ZNRF4	148066	.	GRCh37	19	5455751	5455751	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	28	0	ENST00000222033.4:c.249C>T	p.Val83=	p.V83=	ENST00000222033	NM_181710.3	83	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS42475.1	249	RADIA|MUTECT|MUSE	.	GCAGTCAAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22765:SF34,hmmpanther:PTHR22765	.	.	ENSP00000222033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000222033	Transcript	.	.	ENSG00000105428	17726	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNRF4_HUMAN	ZNRF4	HGNC	.	.	UPI0000366CF5	SNV	ZNRF4,synonymous_variant,p.%3D,ENST00000222033,;	326	28	22	SUCCESS
LILRB3	11025	.	GRCh37	19	54721082	54721082	+	synonymous_variant	Silent	SNP	A	A	G	rs1443024560	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	72	161	0	ENST00000245620.9:c.1779T>C	p.Asp593=	p.D593=	ENST00000245620		593	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS46175.1	1779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACATCCTG	BUFFER|p.S590P|c.1768T>C|4	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32	.	.	ENSP00000245620	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,synonymous_variant,p.%3D,ENST00000424807,;LILRB3,synonymous_variant,p.%3D,ENST00000407860,;LILRA6,synonymous_variant,p.%3D,ENST00000270464,;LILRB3,synonymous_variant,p.%3D,ENST00000391750,;LILRA6,synonymous_variant,p.%3D,ENST00000440558,;LILRA6,synonymous_variant,p.%3D,ENST00000419410,;LILRB3,synonymous_variant,p.%3D,ENST00000245620,;LILRB3,synonymous_variant,p.%3D,ENST00000346401,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRB3,downstream_gene_variant,,ENST00000445347,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000460208,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000436504,;LILRB3,downstream_gene_variant,,ENST00000468668,;	1781	161	152	SUCCESS
LILRA3	11026	.	GRCh37	19	54803142	54803142	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	159	0	ENST00000251390.3:c.535C>T	p.Arg179Trp	p.R179W	ENST00000251390	NM_006865.3	179	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12887.1	535	RADIA|MUTECT|MUSE	.	GGCCCGGGATG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000251390	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000251390	Transcript	.	.	ENSG00000170866	6604	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.11)	.	LIRA3_HUMAN	LILRA3	HGNC	.	.	UPI0000116F1D	SNV	LILRA3,missense_variant,p.Arg196Trp,ENST00000391745,;LILRA3,missense_variant,p.Arg179Trp,ENST00000251390,;LILRA3,intron_variant,,ENST00000391744,;AC010518.3,upstream_gene_variant,,ENST00000417373,;	627	159	111	SUCCESS
LILRA3	11026	.	GRCh37	19	54803146	54803146	+	synonymous_variant	Silent	SNP	T	T	C	rs766187763	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	154	0	ENST00000251390.3:c.531A>G	p.Ser177=	p.S177=	ENST00000251390	NM_006865.3	177	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS12887.1	531	RADIA|MUTECT|MUSE	.	CGGGATGACCC	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000251390	.	4/7	.	.	.	.	.	.	.	.	rs766187763	4/7	PASS	ENST00000251390	Transcript	.	.	ENSG00000170866	6604	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIRA3_HUMAN	LILRA3	HGNC	.	.	UPI0000116F1D	SNV	LILRA3,synonymous_variant,p.%3D,ENST00000391745,;LILRA3,synonymous_variant,p.%3D,ENST00000251390,;LILRA3,intron_variant,,ENST00000391744,;AC010518.3,upstream_gene_variant,,ENST00000417373,;	623	154	111	SUCCESS
LILRA3	11026	.	GRCh37	19	54803147	54803147	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	157	0	ENST00000251390.3:c.530C>G	p.Ser177Ter	p.S177*	ENST00000251390	NM_006865.3	177	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS12887.1	530	RADIA|MUTECT|MUSE	.	GGGATGACCCA	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000251390	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000251390	Transcript	.	.	ENSG00000170866	6604	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIRA3_HUMAN	LILRA3	HGNC	.	.	UPI0000116F1D	SNV	LILRA3,stop_gained,p.Ser194Ter,ENST00000391745,;LILRA3,stop_gained,p.Ser177Ter,ENST00000251390,;LILRA3,intron_variant,,ENST00000391744,;AC010518.3,upstream_gene_variant,,ENST00000417373,;	622	157	111	SUCCESS
LILRA2	11027	.	GRCh37	19	55086295	55086295	+	synonymous_variant	Silent	SNP	C	C	T	rs139612472	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	6	178	0	ENST00000251377.3:c.450C>T	p.Asp150=	p.D150=	ENST00000251377		150	gaC/gaT	0	T:0.0011	T:0.0008	.	T:0	.	T	D	protein_coding	YES	CCDS46179.1	450	MUTECT|MUSE	.	TTTGACGGCTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	T:0.0001	ENSP00000251377	T:0	5/9	.	.	.	.	.	.	.	.	rs139612472	5/9	PASS	ENST00000251377	Transcript	.	T:0.0002	ENSG00000239998	6603	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,synonymous_variant,p.%3D,ENST00000251376,;LILRA2,synonymous_variant,p.%3D,ENST00000391738,;LILRA2,synonymous_variant,p.%3D,ENST00000391737,;LILRA2,synonymous_variant,p.%3D,ENST00000439534,;LILRA2,synonymous_variant,p.%3D,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;	583	178	127	SUCCESS
U2AF2	11338	.	GRCh37	19	56173908	56173908	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	136	1	ENST00000308924.4:c.527G>T	p.Gly176Val	p.G176V	ENST00000308924		176	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12933.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGGGGGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF53,Gene3D:3.30.70.330,Pfam_domain:PF14259,TIGRFAM_domain:TIGR01642,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000307863	.	6/12	.	.	.	.	.	.	.	.	COSM568043,COSM568042	6/12	PASS	ENST00000308924	Transcript	.	.	ENSG00000063244	23156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.003)	.	tolerated(0.58)	1,1	U2AF2_HUMAN	U2AF2	HGNC	.	.	UPI0000137924	SNV	U2AF2,missense_variant,p.Gly176Val,ENST00000308924,;U2AF2,missense_variant,p.Gly12Val,ENST00000590551,;U2AF2,missense_variant,p.Gly176Val,ENST00000450554,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;U2AF2,3_prime_UTR_variant,,ENST00000592874,;U2AF2,non_coding_transcript_exon_variant,,ENST00000587275,;U2AF2,downstream_gene_variant,,ENST00000592867,;U2AF2,downstream_gene_variant,,ENST00000587196,;U2AF2,downstream_gene_variant,,ENST00000588850,;	567	137	117	SUCCESS
PEG3	5178	.	GRCh37	19	57327366	57327366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	5	164	0	ENST00000326441.9:c.2444A>G	p.His815Arg	p.H815R	ENST00000326441	NM_006210.2	815	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12948.1	2444	MUTECT|MUSE	.	TCTGATGGTTG	BUFFER|p.R819C|c.2455C>T|3,BUFFER|p.R819C|c.2455C>T|3	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.32)	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,missense_variant,p.His815Arg,ENST00000423103,;PEG3,missense_variant,p.His815Arg,ENST00000599577,;PEG3,missense_variant,p.His815Arg,ENST00000599534,;PEG3,missense_variant,p.His691Arg,ENST00000598410,;PEG3,missense_variant,p.His815Arg,ENST00000326441,;PEG3,missense_variant,p.His689Arg,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	2808	164	135	SUCCESS
ZIM3	114026	.	GRCh37	19	57646378	57646378	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	48	133	0	ENST00000269834.1:c.1327G>T	p.Gly443Ter	p.G443*	ENST00000269834	NM_052882.1	443	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS33125.1	1327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCAGTAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000269834	.	5/5	.	.	.	.	.	.	.	.	COSM3540330	5/5	PASS	ENST00000269834	Transcript	.	.	ENSG00000141946	16366	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZIM3_HUMAN	ZIM3	HGNC	.	.	UPI000013C3E0	SNV	ZIM3,stop_gained,p.Gly443Ter,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000598197,;USP29,downstream_gene_variant,,ENST00000254181,;U3,upstream_gene_variant,,ENST00000516874,;	1713	133	123	SUCCESS
ZNF264	9422	.	GRCh37	19	57724334	57724334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	86	0	ENST00000263095.6:c.1869A>T	p.Gln623His	p.Q623H	ENST00000263095	NM_003417.4	623	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS33127.1	1869	MUTECT|MUSE	.	CCACAAGTGTC	NONE	.	.	.	.	.	ENSP00000263095	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000263095	Transcript	.	.	ENSG00000083844	13057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.17)	.	ZN264_HUMAN	ZNF264	HGNC	M0QXF3_HUMAN	.	UPI000013C33B	SNV	ZNF264,missense_variant,p.Gln623His,ENST00000263095,;ZNF264,missense_variant,p.Gln623His,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;	2283	86	90	SUCCESS
ZNF256	10172	.	GRCh37	19	58452722	58452722	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1172081536	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	55	0	ENST00000282308.3:c.1454A>G	p.His485Arg	p.H485R	ENST00000282308	NM_005773.2	485	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12966.1	1454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTATGAACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282308	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282308	Transcript	.	.	ENSG00000152454	13049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZN256_HUMAN	ZNF256	HGNC	.	.	UPI00001D69EC	SNV	ZNF256,missense_variant,p.His485Arg,ENST00000282308,;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	1651	55	54	SUCCESS
SLC27A5	10998	.	GRCh37	19	59022230	59022230	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	53	0	ENST00000263093.2:c.756C>T	p.Leu252=	p.L252=	ENST00000263093	NM_012254.2	252	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12983.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGAGGTA	NONE	.	.	hmmpanther:PTHR24096:SF99,hmmpanther:PTHR24096,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000263093	.	2/10	.	.	.	.	.	.	.	.	COSM1305239	2/10	PASS	ENST00000263093	Transcript	.	.	ENSG00000083807	10999	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	S27A5_HUMAN	SLC27A5	HGNC	M0R075_HUMAN	.	UPI0000072ECE	SNV	SLC27A5,synonymous_variant,p.%3D,ENST00000601355,;SLC27A5,synonymous_variant,p.%3D,ENST00000263093,;ZBTB45,downstream_gene_variant,,ENST00000594051,;ZBTB45,downstream_gene_variant,,ENST00000600990,;ZBTB45,downstream_gene_variant,,ENST00000354590,;SLC27A5,non_coding_transcript_exon_variant,,ENST00000593745,;SLC27A5,upstream_gene_variant,,ENST00000594683,;	866	53	49	SUCCESS
TRIM28	10155	.	GRCh37	19	59057222	59057222	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	114	0	ENST00000253024.5:c.545A>G	p.Gln182Arg	p.Q182R	ENST00000253024	NM_005762.2	182	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS12985.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCAGCGGG	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF285,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:3.30.40.10,SMART_domains:SM00336	.	.	ENSP00000253024	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000253024	Transcript	.	.	ENSG00000130726	16384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.65)	.	TIF1B_HUMAN	TRIM28	HGNC	M0R3C0_HUMAN,M0QZE6_HUMAN	.	UPI0000136C15	SNV	TRIM28,missense_variant,p.Gln48Arg,ENST00000597968,;TRIM28,missense_variant,p.Gln182Arg,ENST00000253024,;TRIM28,missense_variant,p.Gln48Arg,ENST00000594806,;TRIM28,missense_variant,p.Gln94Arg,ENST00000593582,;TRIM28,intron_variant,,ENST00000341753,;TRIM28,upstream_gene_variant,,ENST00000597136,;RN7SL525P,upstream_gene_variant,,ENST00000579267,;TRIM28,upstream_gene_variant,,ENST00000597172,;TRIM28,upstream_gene_variant,,ENST00000598355,;TRIM28,upstream_gene_variant,,ENST00000597423,;TRIM28,upstream_gene_variant,,ENST00000597618,;TRIM28,upstream_gene_variant,,ENST00000601150,;TRIM28,upstream_gene_variant,,ENST00000595974,;TRIM28,upstream_gene_variant,,ENST00000597995,;TRIM28,upstream_gene_variant,,ENST00000595028,;TRIM28,upstream_gene_variant,,ENST00000600840,;	834	114	113	SUCCESS
CCL25	6370	.	GRCh37	19	8117950	8117950	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	63	0	ENST00000390669.3:c.17T>A	p.Leu6Gln	p.L6Q	ENST00000390669		6	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12194.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGCCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF70	.	.	ENSP00000375086	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000390669	Transcript	.	.	ENSG00000131142	10624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	CCL25_HUMAN	CCL25	HGNC	.	.	UPI000013CDD5	SNV	CCL25,missense_variant,p.Leu6Gln,ENST00000315626,;CCL25,missense_variant,p.Leu6Gln,ENST00000253451,;CCL25,missense_variant,p.Leu6Gln,ENST00000390669,;CCL25,missense_variant,p.Leu6Gln,ENST00000458625,;	67	63	41	SUCCESS
MUC16	94025	.	GRCh37	19	8971699	8971699	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	5	156	0	ENST00000397910.4:c.42893A>C	p.Gln14298Pro	p.Q14298P	ENST00000397910	NM_024690.2	14298	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS54212.1	42893	MUTECT|MUSE	.	CCAACTGGTAG	NONE	.	.	Superfamily_domains:0047452,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	78/84	.	.	.	.	.	.	.	.	.	78/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Gln939Pro,ENST00000380951,;MUC16,missense_variant,p.Gln14298Pro,ENST00000397910,;MUC16,missense_variant,p.Gln1121Pro,ENST00000599436,;MUC16,downstream_gene_variant,,ENST00000596956,;MUC16,missense_variant,p.Gln1116Pro,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	43097	156	120	SUCCESS
MUC16	94025	.	GRCh37	19	9048117	9048117	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	105	0	ENST00000397910.4:c.33514A>G	p.Ile11172Val	p.I11172V	ENST00000397910	NM_024690.2	11172	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54212.1	33514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATAGTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ile11172Val,ENST00000397910,;	33718	105	67	SUCCESS
COL11A1	1301	.	GRCh37	1	103453234	103453234	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	107	0	ENST00000370096.3:c.2457A>T	p.Ala819=	p.A819=	ENST00000370096	NM_001854.3	819	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS778.1	2457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGCTCG	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	30/67	.	.	.	.	.	.	.	.	.	30/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;	2770	107	84	SUCCESS
KIF1B	23095	.	GRCh37	1	10363425	10363425	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	128	350	1	ENST00000377086.1:c.2115+6121A>T		p.*705*	ENST00000377086				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS111.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAAGTGG	NONE	.	.	.	.	.	ENSP00000263934	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODIFIER	20/46	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,stop_gained,p.Lys728Ter,ENST00000377093,;KIF1B,stop_gained,p.Lys728Ter,ENST00000377083,;KIF1B,intron_variant,,ENST00000377081,;KIF1B,intron_variant,,ENST00000377086,;KIF1B,intron_variant,,ENST00000263934,;RNU6-37P,downstream_gene_variant,,ENST00000362692,;RN7SL731P,upstream_gene_variant,,ENST00000584329,;	.	352	309	SUCCESS
WDR47	22911	.	GRCh37	1	109525342	109525342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	56	117	0	ENST00000369962.3:c.2155G>A	p.Gly719Ser	p.G719S	ENST00000369962		719	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS44186.1	2179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCTTCCA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19863,PROSITE_profiles:PS50294	.	.	ENSP00000383599	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000400794	Transcript	.	.	ENSG00000085433	29141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	tolerated(0.2)	.	WDR47_HUMAN	WDR47	HGNC	E9PKZ6_HUMAN	.	UPI0001639B05	SNV	WDR47,missense_variant,p.Gly720Ser,ENST00000369965,;WDR47,missense_variant,p.Gly727Ser,ENST00000400794,;WDR47,missense_variant,p.Gly691Ser,ENST00000361054,;WDR47,missense_variant,p.Gly691Ser,ENST00000357672,;WDR47,missense_variant,p.Gly719Ser,ENST00000369962,;RP5-1065J22.2,downstream_gene_variant,,ENST00000439282,;	2313	117	127	SUCCESS
CELSR2	1952	.	GRCh37	1	109801366	109801366	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	69	0	ENST00000271332.3:c.3623G>C	p.Arg1208Pro	p.R1208P	ENST00000271332	NM_001408.2	1208	cGc/cCc	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS796.1	3623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGCCTAT	NONE	.	.	hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026	.	.	ENSP00000271332	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.544)	.	deleterious(0)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Arg1208Pro,ENST00000271332,;	3684	69	54	SUCCESS
UBL4B	164153	.	GRCh37	1	110655547	110655547	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	108	0	ENST00000334179.3:c.391G>T	p.Glu131Ter	p.E131*	ENST00000334179	NM_203412.1	131	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS820.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF108	.	.	ENSP00000334044	.	1/1	.	.	.	.	.	.	.	.	COSM1497816	1/1	PASS	ENST00000334179	Transcript	.	.	ENSG00000186150	32309	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UBL4B_HUMAN	UBL4B	HGNC	.	.	UPI0000072926	SNV	UBL4B,stop_gained,p.Glu131Ter,ENST00000334179,;RP4-773N10.6,downstream_gene_variant,,ENST00000554808,;	486	108	93	SUCCESS
KCNA2	3737	.	GRCh37	1	111146974	111146974	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	81	0	ENST00000316361.4:c.431A>T	p.Glu144Val	p.E144V	ENST00000316361	NM_004974.3	144	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS827.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTCATTT	NONE	.	.	hmmpanther:PTHR11537:SF23,hmmpanther:PTHR11537	.	.	ENSP00000433109	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000485317	Transcript	.	.	ENSG00000177301	6220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.06)	.	KCNA2_HUMAN	KCNA2	HGNC	.	.	UPI00001279A1	SNV	KCNA2,missense_variant,p.Glu144Val,ENST00000440270,;KCNA2,missense_variant,p.Glu144Val,ENST00000485317,;KCNA2,missense_variant,p.Glu144Val,ENST00000316361,;KCNA2,missense_variant,p.Glu144Val,ENST00000369770,;KCNA2,intron_variant,,ENST00000525120,;	1105	81	88	SUCCESS
KCNA3	3738	.	GRCh37	1	111216207	111216207	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	90	0	ENST00000369769.2:c.1225G>T	p.Val409Phe	p.V409F	ENST00000369769	NM_002232.3	409	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS828.2	1225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACCCCAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF28,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000358784	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369769	Transcript	.	.	ENSG00000177272	6221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KCNA3_HUMAN	KCNA3	HGNC	Q6P2D3_HUMAN,B2RA23_HUMAN	.	UPI000013FB79	SNV	KCNA3,missense_variant,p.Val409Phe,ENST00000369769,;	1449	90	67	SUCCESS
EXOSC10	5394	.	GRCh37	1	11141273	11141273	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	51	147	0	ENST00000376936.4:c.1303A>T	p.Ser435Cys	p.S435C	ENST00000376936	NM_001001998.1	435	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS30584.1	1303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCTGAGCA	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00474,Pfam_domain:PF01612,Gene3D:3.30.420.10,hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42	.	.	ENSP00000366135	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000376936	Transcript	.	.	ENSG00000171824	9138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	deleterious(0.04)	.	EXOSX_HUMAN	EXOSC10	HGNC	K7EJ37_HUMAN,B4DFE4_HUMAN	.	UPI0000001C90	SNV	EXOSC10,missense_variant,p.Ser435Cys,ENST00000544779,;EXOSC10,missense_variant,p.Ser435Cys,ENST00000376936,;EXOSC10,missense_variant,p.Ser435Cys,ENST00000304457,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000485606,;EXOSC10,upstream_gene_variant,,ENST00000470611,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000474216,;EXOSC10,upstream_gene_variant,,ENST00000472078,;EXOSC10,upstream_gene_variant,,ENST00000498576,;	1353	147	120	SUCCESS
CD101	9398	.	GRCh37	1	117556093	117556093	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201304832	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	125	0	ENST00000256652.4:c.907G>T	p.Val303Phe	p.V303F	ENST00000256652	NM_004258.5	303	Gtt/Ttt	0	A:0.0002	.	.	.	.	T	V/F	protein_coding	YES	CCDS891.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGTTTGC	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF20,hmmpanther:PTHR12207,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	A:0.0002	ENSP00000256652	.	4/10	.	.	.	.	.	.	.	.	rs201304832,COSM1160853	4/10	PASS	ENST00000256652	Transcript	.	.	ENSG00000134256	5949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.014)	.	tolerated(0.71)	0,1	IGSF2_HUMAN	CD101	HGNC	.	.	UPI000013CF1F	SNV	CD101,missense_variant,p.Val303Phe,ENST00000369470,;CD101,missense_variant,p.Val303Phe,ENST00000256652,;	965	125	103	SUCCESS
SCNN1D	6339	.	GRCh37	1	1222886	1222886	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	104	0	ENST00000338555.2:c.819-2A>T		p.X273_splice	ENST00000338555		273		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44037.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGACAG	NONE	.	.	.	.	.	ENSP00000368411	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379116	Transcript	.	.	ENSG00000162572	10601	.	.	HIGH	9/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCNN1D	HGNC	A6NNF7_HUMAN	.	UPI0001EF94B5	SNV	SCNN1D,splice_acceptor_variant,,ENST00000338555,;SCNN1D,splice_acceptor_variant,,ENST00000325425,;SCNN1D,splice_acceptor_variant,,ENST00000379099,;SCNN1D,splice_acceptor_variant,,ENST00000400928,;SCNN1D,splice_acceptor_variant,,ENST00000379116,;ACAP3,downstream_gene_variant,,ENST00000354700,;ACAP3,downstream_gene_variant,,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000470022,;SCNN1D,downstream_gene_variant,,ENST00000467651,;SCNN1D,splice_acceptor_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000492936,;	.	104	67	SUCCESS
PRAMEF12	390999	.	GRCh37	1	12837669	12837669	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201008398	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	120	275	0	ENST00000357726.4:c.1379G>A	p.Gly460Asp	p.G460D	ENST00000357726	NM_001080830.1	460	gGc/gAc	0	T:0.0005	.	.	.	.	A	G/D	protein_coding	YES	CCDS41254.1	1379	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGCATCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286	.	T:0.004	ENSP00000350358	.	3/3	.	.	.	.	.	.	.	.	rs201008398,COSM3773413	3/3	PASS	ENST00000357726	Transcript	.	.	ENSG00000116726	22125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.947)	.	deleterious(0.02)	0,1	PRA12_HUMAN	PRAMEF12	HGNC	.	.	UPI000013A190	SNV	PRAMEF12,missense_variant,p.Gly460Asp,ENST00000357726,;	1406	275	262	SUCCESS
GPR89B	51463	.	GRCh37	1	147408746	147408746	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	269	81	226	0	ENST00000314163.7:c.48A>T	p.Leu16=	p.L16=	ENST00000314163	NM_016334.3	16	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS930.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTATTTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15948	.	.	ENSP00000358233	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000314163	Transcript	.	.	ENSG00000188092	13840	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPHRB_HUMAN	GPR89B	HGNC	.	.	UPI00000389CC	SNV	GPR89B,synonymous_variant,p.%3D,ENST00000314163,;GPR89B,intron_variant,,ENST00000468618,;GPR89B,non_coding_transcript_exon_variant,,ENST00000478307,;GPR89B,non_coding_transcript_exon_variant,,ENST00000488165,;	192	226	350	SUCCESS
MTMR11	10903	.	GRCh37	1	149902441	149902441	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	33	0	ENST00000439741.2:c.1465-2A>G		p.X489_splice	ENST00000439741	NM_001145862.1	489		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53360.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAACTGGACA	NONE	.	.	.	.	.	ENSP00000391668	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439741	Transcript	.	.	ENSG00000014914	24307	.	.	HIGH	14/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMRB_HUMAN	MTMR11	HGNC	.	.	UPI000173AA17	SNV	MTMR11,splice_acceptor_variant,,ENST00000406732,;MTMR11,splice_acceptor_variant,,ENST00000369140,;MTMR11,splice_acceptor_variant,,ENST00000361405,;MTMR11,splice_acceptor_variant,,ENST00000439741,;SF3B4,upstream_gene_variant,,ENST00000457312,;SF3B4,upstream_gene_variant,,ENST00000271628,;MTMR11,splice_acceptor_variant,,ENST00000495054,;MTMR11,splice_acceptor_variant,,ENST00000482025,;MTMR11,splice_acceptor_variant,,ENST00000466496,;MTMR11,splice_acceptor_variant,,ENST00000490310,;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000479272,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	.	33	74	SUCCESS
ZNF687	57592	.	GRCh37	1	151262629	151262630	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	155	28	107	0	ENST00000324048.5:c.2997dup	p.Arg1000AlafsTer16	p.R1000Afs*16	ENST00000324048		999	gag/gaGg	0	.	.	.	.	.	G	E/EX	protein_coding	YES	CCDS992.1	2996-2997	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGTGAGCGCT	NONE	.	.	PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000319829	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	insertion	ZNF687,frameshift_variant,p.Arg1000AlafsTer16,ENST00000324048,;ZNF687,frameshift_variant,p.Arg1000AlafsTer16,ENST00000368879,;ZNF687,frameshift_variant,p.Arg603AlafsTer16,ENST00000426871,;ZNF687,frameshift_variant,p.Arg1000AlafsTer16,ENST00000336715,;PI4KB,downstream_gene_variant,,ENST00000455060,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368875,;PI4KB,downstream_gene_variant,,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000368874,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000529142,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000368872,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,3_prime_UTR_variant,,ENST00000449313,;ZNF687,downstream_gene_variant,,ENST00000459919,;	3966-3967	107	183	SUCCESS
TCHH	7062	.	GRCh37	1	152081242	152081242	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	47	134	0	ENST00000368804.1:c.4451A>G	p.Asp1484Gly	p.D1484G	ENST00000368804	NM_007113.3	1484	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS41396.1	4451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTCACGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Asp1484Gly,ENST00000368804,;	4451	134	229	SUCCESS
HRNR	388697	.	GRCh37	1	152186189	152186189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	37	30	0	ENST00000368801.2:c.7916C>A	p.Ser2639Tyr	p.S2639Y	ENST00000368801	NM_001009931.2	2639	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS30859.1	7916	RADIA|SOMATICSNIPER|VARSCANS	.	CCGAAGACTGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.184)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Ser2639Tyr,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7992	30	48	SUCCESS
FLG	2312	.	GRCh37	1	152280562	152280562	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	272	67	229	0	ENST00000368799.1:c.6800A>T	p.His2267Leu	p.H2267L	ENST00000368799	NM_002016.1	2267	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS30860.1	6800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATGGTTT	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.His2267Leu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6836	229	339	SUCCESS
FLG2	388698	.	GRCh37	1	152328113	152328113	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs774741236	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	219	53	150	1	ENST00000388718.5:c.2149T>C	p.Ser717Pro	p.S717P	ENST00000388718	NM_001014342.2	717	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS30861.1	2149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	rs774741236	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Ser717Pro,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	2222	152	273	SUCCESS
FLG2	388698	.	GRCh37	1	152329823	152329823	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	254	245	0	ENST00000388718.5:c.439T>A	p.Ser147Thr	p.S147T	ENST00000388718	NM_001014342.2	147	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30861.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGTGCC	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Ser147Thr,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	512	245	360	SUCCESS
IVL	3713	.	GRCh37	1	152883220	152883220	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	129	191	1	ENST00000368764.3:c.947T>A	p.Leu316Gln	p.L316Q	ENST00000368764		316	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1030.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTGGAGC	NONE	.	.	hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.1)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.Leu316Gln,ENST00000368764,;IVL,missense_variant,p.Leu170Gln,ENST00000392667,;	1011	192	291	SUCCESS
AQP10	89872	.	GRCh37	1	154296633	154296633	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	12	0	ENST00000324978.3:c.708-125T>A		p.*236*	ENST00000324978	NM_080429.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1065.1	.	MUTECT|MUSE	.	AATCCTCTTCC	NONE	.	.	.	.	.	ENSP00000318355	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324978	Transcript	.	.	ENSG00000143595	16029	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AQP10_HUMAN	AQP10	HGNC	.	.	UPI000007028A	SNV	AQP10,3_prime_UTR_variant,,ENST00000484864,;AQP10,intron_variant,,ENST00000324978,;ATP8B2,upstream_gene_variant,,ENST00000368487,;ATP8B2,upstream_gene_variant,,ENST00000368489,;ATP8B2,upstream_gene_variant,,ENST00000341822,;ATP8B2,upstream_gene_variant,,ENST00000426445,;AQP10,downstream_gene_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	.	12	29	SUCCESS
TMEM79	84283	.	GRCh37	1	156255759	156255759	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1459826629	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	86	73	1	ENST00000295694.5:c.742T>A	p.Phe248Ile	p.F248I	ENST00000295694		248	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS1138.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTTCCCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	.	.	ENSP00000384748	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000405535	Transcript	.	.	ENSG00000163472	28196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	tolerated(0.42)	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,missense_variant,p.Phe248Ile,ENST00000405535,;TMEM79,missense_variant,p.Phe248Ile,ENST00000295694,;TMEM79,intron_variant,,ENST00000456810,;TMEM79,intron_variant,,ENST00000357501,;SMG5,upstream_gene_variant,,ENST00000368267,;SMG5,upstream_gene_variant,,ENST00000361813,;TMEM79,non_coding_transcript_exon_variant,,ENST00000463670,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;C1orf85,downstream_gene_variant,,ENST00000480968,;C1orf85,downstream_gene_variant,,ENST00000497831,;TMEM79,upstream_gene_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000461597,;C1orf85,downstream_gene_variant,,ENST00000472870,;	913	74	132	SUCCESS
NES	10763	.	GRCh37	1	156641502	156641502	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	119	122	1	ENST00000368223.3:c.2478A>T	p.Leu826=	p.L826=	ENST00000368223	NM_006617.1	826	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1151.1	2478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTAGGAT	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,synonymous_variant,p.%3D,ENST00000368223,;	2611	123	183	SUCCESS
INSRR	3645	.	GRCh37	1	156816454	156816454	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	38	143	1	ENST00000368195.3:c.1667A>T	p.Gln556Leu	p.Q556L	ENST00000368195	NM_014215.2	556	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1160.1	1667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGGTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265	.	.	ENSP00000357178	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated(0.19)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Gln556Leu,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	2064	144	215	SUCCESS
FHAD1	114827	.	GRCh37	1	15707218	15707218	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs564119298	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	37	71	0	ENST00000358897.4:c.3661G>A	p.Ala1221Thr	p.A1221T	ENST00000358897	NM_052929.1	1221	Gca/Aca	0	.	A:0.0008	.	A:0	.	A	A/T	protein_coding	.	.	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACGCAAGG	NONE	by1000G	.	hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853	A:0	.	ENSP00000318812	A:0	11/14	.	.	.	.	.	.	.	.	rs564119298	11/14	PASS	ENST00000314668	Transcript	.	A:0.0002	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	A:0	tolerated(0.43)	.	.	FHAD1	HGNC	Q5JYW6_HUMAN	.	UPI00003728D4	SNV	FHAD1,missense_variant,p.Ala456Thr,ENST00000314668,;FHAD1,missense_variant,p.Ala474Thr,ENST00000314740,;FHAD1,missense_variant,p.Ala1185Thr,ENST00000417793,;FHAD1,missense_variant,p.Ala1221Thr,ENST00000358897,;FHAD1,missense_variant,p.Ala1221Thr,ENST00000375998,;FHAD1,missense_variant,p.Ala540Thr,ENST00000444385,;FHAD1,missense_variant,p.Ala1221Thr,ENST00000375999,;FHAD1,missense_variant,p.Ala492Thr,ENST00000529606,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000477846,;FHAD1,upstream_gene_variant,,ENST00000495195,;FHAD1,upstream_gene_variant,,ENST00000472086,;FHAD1,missense_variant,p.Ala238Thr,ENST00000481324,;	1366	71	78	SUCCESS
FHAD1	114827	.	GRCh37	1	15709776	15709776	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	49	0	ENST00000358897.4:c.4122+1087G>T		p.*1374*	ENST00000358897	NM_052929.1			0	.	.	.	.	.	T	.	protein_coding	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGGTGAG	NONE	.	.	.	.	.	ENSP00000399819	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000444385	Transcript	.	.	ENSG00000142621	29408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FHAD1	HGNC	.	.	UPI000059CF68	SNV	FHAD1,3_prime_UTR_variant,,ENST00000444385,;FHAD1,intron_variant,,ENST00000314668,;FHAD1,intron_variant,,ENST00000314740,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000358897,;FHAD1,intron_variant,,ENST00000375998,;FHAD1,intron_variant,,ENST00000375999,;FHAD1,intron_variant,,ENST00000529606,;FHAD1,splice_region_variant,,ENST00000495195,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,intron_variant,,ENST00000477846,;FHAD1,upstream_gene_variant,,ENST00000472086,;FHAD1,intron_variant,,ENST00000481324,;	2203	49	34	SUCCESS
CASP9	842	.	GRCh37	1	15819678	15819678	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	18	0	ENST00000333868.5:c.1159-148A>G		p.*387*	ENST00000333868				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS158.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAATACGCA	NONE	.	.	.	.	.	ENSP00000330237	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333868	Transcript	.	.	ENSG00000132906	1511	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CASP9_HUMAN	CASP9	HGNC	Q5JRU2_HUMAN	.	UPI000012D14F	SNV	CASP9,3_prime_UTR_variant,,ENST00000546424,;CASP9,intron_variant,,ENST00000348549,;CASP9,intron_variant,,ENST00000333868,;CASP9,intron_variant,,ENST00000375890,;CASP9,intron_variant,,ENST00000424908,;CASP9,downstream_gene_variant,,ENST00000447522,;CELA2B,downstream_gene_variant,,ENST00000375910,;CELA2B,downstream_gene_variant,,ENST00000488764,;CASP9,intron_variant,,ENST00000400777,;CASP9,intron_variant,,ENST00000474305,;	.	18	14	SUCCESS
OR10Z1	128368	.	GRCh37	1	158577013	158577013	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	44	115	1	ENST00000361284.1:c.785C>A	p.Pro262His	p.P262H	ENST00000361284	NM_001004478.1	262	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS30901.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCAAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Pro262His,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	785	116	217	SUCCESS
SPTA1	6708	.	GRCh37	1	158632708	158632708	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1160893585	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	9	135	0	ENST00000368147.4:c.2248G>C	p.Ala750Pro	p.A750P	ENST00000368147	NM_003126.2	750	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS41423.1	2248	MUTECT|MUSE	.	TGCAGCCAGGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	17/52	.	.	.	.	.	.	.	.	.	17/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Ala750Pro,ENST00000368147,;	2429	135	195	SUCCESS
OR6K2	81448	.	GRCh37	1	158669520	158669520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	331	79	217	1	ENST00000359610.2:c.923A>G	p.Gln308Arg	p.Q308R	ENST00000359610	NM_001005279.1	308	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS30902.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTTGACCT	BUFFER|p.K304fs*3|c.911delA|4	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Superfamily_domains:SSF81321	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,missense_variant,p.Gln308Arg,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	967	218	410	SUCCESS
MNDA	4332	.	GRCh37	1	158811928	158811928	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	172	140	1	ENST00000368141.4:c.-16A>T		p.*6*	ENST00000368141	NM_002432.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1177.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAAGCTAT	NONE	.	.	.	.	.	ENSP00000357123	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,5_prime_UTR_variant,,ENST00000368141,;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,non_coding_transcript_exon_variant,,ENST00000491210,;	246	141	264	SUCCESS
DARC	0	.	GRCh37	1	159176132	159176132	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	92	87	1	ENST00000368122.2:c.903C>G	p.Pro301=	p.P301=	ENST00000368122	NM_002036.3	301	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS44252.1	909	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCCCTGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559	.	.	ENSP00000357103	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368121	Transcript	.	.	ENSG00000213088	4035	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACKR1_HUMAN	DARC	HGNC	Q5Y7A1_HUMAN,Q5JY94_HUMAN,Q4VBN9_HUMAN	.	UPI000013E1B0	SNV	DARC,synonymous_variant,p.%3D,ENST00000368122,;DARC,synonymous_variant,p.%3D,ENST00000537147,;DARC,synonymous_variant,p.%3D,ENST00000368121,;CADM3,downstream_gene_variant,,ENST00000368124,;CADM3,downstream_gene_variant,,ENST00000368125,;DARC,downstream_gene_variant,,ENST00000435307,;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;	932	89	136	SUCCESS
DARC	0	.	GRCh37	1	159176146	159176146	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	33	98	0	ENST00000368122.2:c.917T>C	p.Leu306Pro	p.L306P	ENST00000368122	NM_002036.3	306	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS44252.1	923	RADIA|MUTECT|MUSE	.	CGCCCTATTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559	.	.	ENSP00000357103	.	1/1	.	.	.	.	.	.	.	.	COSM529870	1/1	PASS	ENST00000368121	Transcript	.	.	ENSG00000213088	4035	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.983)	.	deleterious(0.01)	1	ACKR1_HUMAN	DARC	HGNC	Q5Y7A1_HUMAN,Q5JY94_HUMAN,Q4VBN9_HUMAN	.	UPI000013E1B0	SNV	DARC,missense_variant,p.Leu306Pro,ENST00000368122,;DARC,missense_variant,p.Leu306Pro,ENST00000537147,;DARC,missense_variant,p.Leu308Pro,ENST00000368121,;CADM3,downstream_gene_variant,,ENST00000368124,;CADM3,downstream_gene_variant,,ENST00000368125,;DARC,downstream_gene_variant,,ENST00000435307,;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;	946	98	153	SUCCESS
FCRL6	343413	.	GRCh37	1	159779343	159779343	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	95	89	1	ENST00000368106.3:c.756A>G	p.Ser252=	p.S252=	ENST00000368106	NM_001004310.2	252	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30912.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCAGCTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000357086	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000368106	Transcript	.	.	ENSG00000181036	31910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL6_HUMAN	FCRL6	HGNC	.	.	UPI0000D62020	SNV	FCRL6,synonymous_variant,p.%3D,ENST00000392235,;FCRL6,synonymous_variant,p.%3D,ENST00000339348,;FCRL6,synonymous_variant,p.%3D,ENST00000321935,;FCRL6,synonymous_variant,p.%3D,ENST00000368106,;FCRL6,downstream_gene_variant,,ENST00000536257,;FCRL6,downstream_gene_variant,,ENST00000541729,;FCRL6,downstream_gene_variant,,ENST00000540741,;	757	90	136	SUCCESS
NCSTN	23385	.	GRCh37	1	160314603	160314606	+	frameshift_variant	Frame_Shift_Del	DEL	GATT	GATT	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	GATT	GATT	.	.	.	.	.	.	.	.	.	.	.	.	.	55	104	104	0	ENST00000294785.5:c.178_181del	p.Ile60AlafsTer15	p.I60Afs*15	ENST00000294785	NM_015331.2	59	caGATT/ca	0	.	.	.	.	.	-	QI/X	protein_coding	YES	CCDS1203.1	177-180	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATCAGATTGGCTG	NONE	.	.	hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092	.	.	ENSP00000294785	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000294785	Transcript	.	.	ENSG00000162736	17091	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NICA_HUMAN	NCSTN	HGNC	E7ENA9_HUMAN	.	UPI0000042050	deletion	NCSTN,frameshift_variant,p.Ile60AlafsTer15,ENST00000294785,;NCSTN,frameshift_variant,p.Ile60AlafsTer15,ENST00000535857,;NCSTN,frameshift_variant,p.Ile40AlafsTer15,ENST00000392212,;NCSTN,frameshift_variant,p.Ile60AlafsTer15,ENST00000437169,;NCSTN,frameshift_variant,p.Ile40AlafsTer15,ENST00000368063,;NCSTN,frameshift_variant,p.Ile60AlafsTer15,ENST00000421914,;NCSTN,frameshift_variant,p.Ile93AlafsTer15,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000424645,;COPA,upstream_gene_variant,,ENST00000241704,;COPA,upstream_gene_variant,,ENST00000368069,;NCSTN,non_coding_transcript_exon_variant,,ENST00000467837,;NCSTN,non_coding_transcript_exon_variant,,ENST00000465223,;NCSTN,non_coding_transcript_exon_variant,,ENST00000491332,;NCSTN,upstream_gene_variant,,ENST00000459963,;COPA,upstream_gene_variant,,ENST00000541366,;COPA,upstream_gene_variant,,ENST00000545266,;	302-305	104	159	SUCCESS
LY9	4063	.	GRCh37	1	160784465	160784465	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1009660085	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	149	151	1	ENST00000263285.6:c.986T>C	p.Ile329Thr	p.I329T	ENST00000263285		329	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS30916.1	986	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATAGAGG	NONE	.	.	hmmpanther:PTHR12080:SF14,hmmpanther:PTHR12080,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000263285	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000263285	Transcript	.	.	ENSG00000122224	6730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.08)	.	LY9_HUMAN	LY9	HGNC	.	.	UPI00001416AF	SNV	LY9,missense_variant,p.Ile289Thr,ENST00000368041,;LY9,missense_variant,p.Ile52Thr,ENST00000368035,;LY9,missense_variant,p.Ile329Thr,ENST00000341032,;LY9,missense_variant,p.Ile329Thr,ENST00000392203,;LY9,missense_variant,p.Ile329Thr,ENST00000368037,;LY9,missense_variant,p.Ile329Thr,ENST00000263285,;LY9,5_prime_UTR_variant,,ENST00000368040,;LY9,downstream_gene_variant,,ENST00000471816,;LY9,downstream_gene_variant,,ENST00000480837,;LY9,non_coding_transcript_exon_variant,,ENST00000479663,;	1016	152	242	SUCCESS
FCGR2A	2212	.	GRCh37	1	161479767	161479767	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	972	221	795	1	ENST00000271450.6:c.522C>T	p.Ile174=	p.I174=	ENST00000271450	NM_021642.3	174	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS44264.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCCCACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF51,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000271450	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000271450	Transcript	.	.	ENSG00000143226	3616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCG2A_HUMAN	FCGR2A	HGNC	F5H137_HUMAN,F5GY95_HUMAN	.	UPI000013D8DE	SNV	FCGR2A,synonymous_variant,p.%3D,ENST00000367972,;FCGR2A,synonymous_variant,p.%3D,ENST00000271450,;FCGR2A,upstream_gene_variant,,ENST00000459885,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000471026,;FCGR2A,upstream_gene_variant,,ENST00000461298,;RP11-25K21.6,upstream_gene_variant,,ENST00000537821,;FCGR2A,upstream_gene_variant,,ENST00000486608,;FCGR2A,synonymous_variant,p.%3D,ENST00000467525,;FCGR2A,3_prime_UTR_variant,,ENST00000483665,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000467654,;FCGR2A,downstream_gene_variant,,ENST00000473080,;FCGR2A,downstream_gene_variant,,ENST00000482233,;FCGR2A,downstream_gene_variant,,ENST00000497474,;FCGR2A,downstream_gene_variant,,ENST00000536731,;	560	796	1193	SUCCESS
FCGR2A	2212	.	GRCh37	1	161479859	161479859	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs571568091	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	737	23	535	1	ENST00000271450.6:c.614T>C	p.Val205Ala	p.V205A	ENST00000271450	NM_021642.3	205	gTc/gCc	0	.	C:0.0008	.	C:0	.	C	V/A	protein_coding	YES	CCDS44264.1	614	MUTECT|MUSE	.	CACTGTCCAAG	NONE	by1000G	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF51,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	C:0	.	ENSP00000271450	C:0	4/7	.	.	.	.	.	.	.	.	rs571568091	4/7	PASS	ENST00000271450	Transcript	.	C:0.0002	ENSG00000143226	3616	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.977)	C:0	deleterious(0)	.	FCG2A_HUMAN	FCGR2A	HGNC	F5H137_HUMAN,F5GY95_HUMAN	.	UPI000013D8DE	SNV	FCGR2A,missense_variant,p.Val204Ala,ENST00000367972,;FCGR2A,missense_variant,p.Val205Ala,ENST00000271450,;FCGR2A,upstream_gene_variant,,ENST00000459885,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000471026,;FCGR2A,upstream_gene_variant,,ENST00000461298,;RP11-25K21.6,upstream_gene_variant,,ENST00000537821,;FCGR2A,upstream_gene_variant,,ENST00000486608,;FCGR2A,missense_variant,p.Val170Ala,ENST00000467525,;FCGR2A,3_prime_UTR_variant,,ENST00000483665,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000467654,;FCGR2A,downstream_gene_variant,,ENST00000473080,;FCGR2A,downstream_gene_variant,,ENST00000482233,;FCGR2A,downstream_gene_variant,,ENST00000497474,;FCGR2A,downstream_gene_variant,,ENST00000536731,;	652	536	760	SUCCESS
SH2D1B	117157	.	GRCh37	1	162381882	162381882	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	39	0	ENST00000367929.2:c.-76T>C		p.*26*	ENST00000367929	NM_053282.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30928.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGAGATGT	NONE	.	.	.	.	.	ENSP00000356906	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000367929	Transcript	.	.	ENSG00000198574	30416	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH21B_HUMAN	SH2D1B	HGNC	.	.	UPI00000015D1	SNV	SH2D1B,5_prime_UTR_variant,,ENST00000367929,;SH2D1B,5_prime_UTR_variant,,ENST00000359567,;SH2D1B,non_coding_transcript_exon_variant,,ENST00000493550,;	35	39	49	SUCCESS
EPHA2	1969	.	GRCh37	1	16459692	16459692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	47	0	ENST00000358432.5:c.2036A>T	p.Glu679Val	p.E679V	ENST00000358432	NM_004431.3	679	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS169.1	2036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTCTAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF306,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000351209	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000358432	Transcript	.	.	ENSG00000142627	3386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EPHA2_HUMAN	EPHA2	HGNC	Q96HF4_HUMAN,Q8IZL0_HUMAN	.	UPI00000731AB	SNV	EPHA2,missense_variant,p.Glu679Val,ENST00000358432,;EPHA2,non_coding_transcript_exon_variant,,ENST00000462805,;EPHA2,downstream_gene_variant,,ENST00000480202,;	2191	47	46	SUCCESS
MAEL	84944	.	GRCh37	1	166974609	166974609	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	357	18	227	0	ENST00000367872.4:c.820A>C	p.Met274Leu	p.M274L	ENST00000367872	NM_032858.1	274	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS1257.1	820	MUTECT|MUSE	.	TGGCCATGTGG	NONE	.	.	hmmpanther:PTHR21358,hmmpanther:PTHR21358:SF3,Pfam_domain:PF13017	.	.	ENSP00000356846	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000367872	Transcript	.	.	ENSG00000143194	25929	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(1)	.	MAEL_HUMAN	MAEL	HGNC	E9JVC4_HUMAN	.	UPI0000042202	SNV	MAEL,missense_variant,p.Met243Leu,ENST00000447624,;MAEL,missense_variant,p.Met243Leu,ENST00000367870,;MAEL,missense_variant,p.Met274Leu,ENST00000367872,;RNA5SP65,upstream_gene_variant,,ENST00000363166,;MAEL,non_coding_transcript_exon_variant,,ENST00000491055,;MAEL,non_coding_transcript_exon_variant,,ENST00000487826,;	1064	227	375	SUCCESS
METTL13	0	.	GRCh37	1	171753199	171753199	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	45	109	0	ENST00000361735.3:c.473G>T	p.Cys158Phe	p.C158F	ENST00000361735	NM_015935.4	158	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS1299.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGCATCT	NONE	.	.	hmmpanther:PTHR12176:SF13,hmmpanther:PTHR12176,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000354920	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,missense_variant,p.Cys157Phe,ENST00000458517,;METTL13,missense_variant,p.Cys158Phe,ENST00000361735,;METTL13,missense_variant,p.Cys72Phe,ENST00000362019,;METTL13,intron_variant,,ENST00000367737,;METTL13,intron_variant,,ENST00000485629,;METTL13,upstream_gene_variant,,ENST00000466643,;METTL13,upstream_gene_variant,,ENST00000478330,;	739	109	179	SUCCESS
SLC9C2	284525	.	GRCh37	1	173526479	173526479	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	328	90	246	0	ENST00000367714.3:c.1215G>T	p.Met405Ile	p.M405I	ENST00000367714	NM_178527.3	405	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1308.1	1215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCATTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110	.	.	ENSP00000356687	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.26)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Met405Ile,ENST00000367714,;SLC9C2,missense_variant,p.Met303Ile,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,splice_region_variant,,ENST00000466087,;	1638	246	418	SUCCESS
ZBTB37	84614	.	GRCh37	1	173842760	173842760	+	intron_variant	Intron	SNP	A	A	T	rs777236009	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	34	119	0	ENST00000367701.5:c.1023+56A>T		p.*341*	ENST00000367701				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44278.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTATGAAT	NONE	.	.	.	.	.	ENSP00000356674	.	.	.	.	.	.	.	.	.	.	rs777236009	.	PASS	ENST00000367701	Transcript	.	.	ENSG00000185278	28365	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZBT37_HUMAN	ZBTB37	HGNC	.	.	UPI0000203C09	SNV	ZBTB37,missense_variant,p.Tyr360Phe,ENST00000367702,;ZBTB37,missense_variant,p.Tyr360Phe,ENST00000432989,;ZBTB37,intron_variant,,ENST00000367704,;ZBTB37,intron_variant,,ENST00000427304,;ZBTB37,intron_variant,,ENST00000367701,;GAS5,upstream_gene_variant,,ENST00000430245,;	.	119	217	SUCCESS
TNN	63923	.	GRCh37	1	175048522	175048522	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	18	0	ENST00000239462.4:c.463T>A	p.Cys155Ser	p.C155S	ENST00000239462	NM_022093.1	155	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS30943.1	463	MUTECT|MUSE	.	GCAGCTGCCAC	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,PROSITE_patterns:PS00022	.	.	ENSP00000239462	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.393)	.	deleterious(0.01)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Cys155Ser,ENST00000239462,;	576	18	41	SUCCESS
ASTN1	460	.	GRCh37	1	176927577	176927577	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	62	190	0	ENST00000361833.2:c.1640G>A	p.Ser547Asn	p.S547N	ENST00000361833		547	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS1319.1	1640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCTGAGG	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	deleterious(0.02)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Ser555Asn,ENST00000367654,;ASTN1,missense_variant,p.Ser547Asn,ENST00000424564,;ASTN1,missense_variant,p.Ser547Asn,ENST00000361833,;ASTN1,missense_variant,p.Ser547Asn,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	1654	190	253	SUCCESS
BRINP2	57795	.	GRCh37	1	177245534	177245534	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs368629885	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	537	57	426	0	ENST00000361539.4:c.976T>C	p.Ser326Pro	p.S326P	ENST00000361539	NM_021165.2	326	Tcc/Ccc	0	A:0	.	.	.	.	C	S/P	protein_coding	YES	CCDS1320.1	976	MUTECT|MUSE|VARSCANS	.	AGGACTCCTGG	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	A:0.0002	ENSP00000354481	.	6/8	.	.	.	.	.	.	.	.	rs368629885	6/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.028)	.	deleterious(0.03)	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Ser326Pro,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	1288	426	594	SUCCESS
FAM163A	148753	.	GRCh37	1	179783192	179783192	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	289	31	198	0	ENST00000341785.4:c.372T>G	p.Phe124Leu	p.F124L	ENST00000341785	NM_173509.2	124	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS1333.1	372	MUTECT|MUSE|VARSCANS	.	TCCTTTGCTCC	NONE	.	.	hmmpanther:PTHR31914,hmmpanther:PTHR31914:SF2,Pfam_domain:PF15069	.	.	ENSP00000354891	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341785	Transcript	.	.	ENSG00000143340	28274	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.06)	.	F163A_HUMAN	FAM163A	HGNC	.	.	UPI000006ED82	SNV	FAM163A,missense_variant,p.Phe124Leu,ENST00000341785,;RP11-12M5.3,downstream_gene_variant,,ENST00000453051,;RP11-12M5.3,downstream_gene_variant,,ENST00000415218,;	768	198	320	SUCCESS
CACNA1E	777	.	GRCh37	1	181753861	181753861	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs866465909	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	38	143	0	ENST00000367573.2:c.5535C>A	p.His1845Gln	p.H1845Q	ENST00000367573	NM_001205293.1	1845	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS55664.1	5535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCTATC	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	41/48	.	.	.	.	.	.	.	.	.	41/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	deleterious(0)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.His1777Gln,ENST00000358338,;CACNA1E,missense_variant,p.His1452Gln,ENST00000367567,;CACNA1E,missense_variant,p.His1796Gln,ENST00000357570,;CACNA1E,missense_variant,p.His1826Gln,ENST00000360108,;CACNA1E,missense_variant,p.His1826Gln,ENST00000526775,;CACNA1E,missense_variant,p.His1845Gln,ENST00000367573,;CACNA1E,missense_variant,p.His1845Gln,ENST00000367570,;	5535	143	190	SUCCESS
DHX9	1660	.	GRCh37	1	182836133	182836133	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	31	110	0	ENST00000367549.3:c.1512A>T	p.Gly504=	p.G504=	ENST00000367549	NM_001357.4	504	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41444.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGAATCAG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000356520	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,synonymous_variant,p.%3D,ENST00000367549,;	1622	110	155	SUCCESS
COLGALT2	23127	.	GRCh37	1	183908097	183908097	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753492954	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	301	251	2	ENST00000361927.4:c.1679C>T	p.Thr560Met	p.T560M	ENST00000361927	NM_015101.2	560	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS1360.1	1679	RADIA|SOMATICSNIPER|VARSCANS	.	AGTGCGTAGGG	NONE	byFrequency	.	hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	12/12	.	.	.	.	.	.	.	.	rs753492954,COSM294417	12/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.996)	.	deleterious(0)	0,1	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,missense_variant,p.Thr297Met,ENST00000367520,;COLGALT2,missense_variant,p.Thr560Met,ENST00000361927,;COLGALT2,missense_variant,p.Thr168Met,ENST00000367521,;COLGALT2,intron_variant,,ENST00000546159,;COLGALT2,intron_variant,,ENST00000486375,;	2051	253	438	SUCCESS
BRINP3	339479	.	GRCh37	1	190067337	190067337	+	synonymous_variant	Silent	SNP	T	T	A	rs778280914	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	62	140	0	ENST00000367462.3:c.2112A>T	p.Leu704=	p.L704=	ENST00000367462	NM_199051.1	704	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1373.1	2112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTAGTAG	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	rs778280914	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,synonymous_variant,p.%3D,ENST00000534846,;BRINP3,synonymous_variant,p.%3D,ENST00000367462,;	2344	140	288	SUCCESS
TROVE2	0	.	GRCh37	1	193029224	193029224	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	22	0	ENST00000367446.3:c.-150T>C		p.*50*	ENST00000367446	NM_004600.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1379.1	.	MUTECT|MUSE	.	CCTCCTCTTTC	NONE	.	.	.	.	.	ENSP00000356416	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000367446	Transcript	.	.	ENSG00000116747	11313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RO60_HUMAN	TROVE2	HGNC	G5E9R9_HUMAN,D6RDN1_HUMAN	.	UPI0000072E7F	SNV	TROVE2,5_prime_UTR_variant,,ENST00000416058,;UCHL5,5_prime_UTR_variant,,ENST00000367452,;TROVE2,5_prime_UTR_variant,,ENST00000506303,;TROVE2,5_prime_UTR_variant,,ENST00000367445,;TROVE2,5_prime_UTR_variant,,ENST00000367444,;TROVE2,5_prime_UTR_variant,,ENST00000367443,;TROVE2,5_prime_UTR_variant,,ENST00000367446,;TROVE2,intron_variant,,ENST00000432079,;TROVE2,intron_variant,,ENST00000415442,;TROVE2,intron_variant,,ENST00000400968,;UCHL5,upstream_gene_variant,,ENST00000367448,;UCHL5,upstream_gene_variant,,ENST00000530098,;UCHL5,upstream_gene_variant,,ENST00000417752,;UCHL5,upstream_gene_variant,,ENST00000367450,;UCHL5,upstream_gene_variant,,ENST00000367454,;UCHL5,upstream_gene_variant,,ENST00000367451,;UCHL5,upstream_gene_variant,,ENST00000367449,;UCHL5,upstream_gene_variant,,ENST00000421683,;UCHL5,upstream_gene_variant,,ENST00000367455,;snoU109,upstream_gene_variant,,ENST00000458806,;TROVE2,intron_variant,,ENST00000460715,;UCHL5,upstream_gene_variant,,ENST00000483156,;TROVE2,non_coding_transcript_exon_variant,,ENST00000469214,;	61	22	47	SUCCESS
UBR4	23352	.	GRCh37	1	19433356	19433356	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	78	236	0	ENST00000375254.3:c.12210C>T	p.Ala4070=	p.A4070=	ENST00000375254	NM_020765.2	4070	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS189.1	12210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGGCATC	NONE	.	.	hmmpanther:PTHR21725	.	.	ENSP00000364403	.	82/106	.	.	.	.	.	.	.	.	.	82/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;UBR4,downstream_gene_variant,,ENST00000375218,;UBR4,upstream_gene_variant,,ENST00000375224,;UBR4,non_coding_transcript_exon_variant,,ENST00000494503,;UBR4,downstream_gene_variant,,ENST00000466969,;	12238	236	172	SUCCESS
ASPM	259266	.	GRCh37	1	197115671	197115671	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	12	0	ENST00000367409.4:c.-104A>T		p.*35*	ENST00000367409	NM_018136.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1389.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTGTAGA	NONE	.	.	.	.	.	ENSP00000356379	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,5_prime_UTR_variant,,ENST00000367409,;ASPM,5_prime_UTR_variant,,ENST00000294732,;	154	12	16	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200817745	200817745	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	39	77	0	ENST00000236925.4:c.1881A>T	p.Ser627=	p.S627=	ENST00000236925		627	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1404.1	1848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCAGAAGA	NONE	.	.	hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595	.	.	ENSP00000351684	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	SNV	CAMSAP2,synonymous_variant,p.%3D,ENST00000413307,;CAMSAP2,synonymous_variant,p.%3D,ENST00000358823,;CAMSAP2,synonymous_variant,p.%3D,ENST00000236925,;CAMSAP2,intron_variant,,ENST00000447701,;	2118	77	206	SUCCESS
SYT2	127833	.	GRCh37	1	202571584	202571584	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	94	72	0	ENST00000367267.1:c.555T>A	p.Pro185=	p.P185=	ENST00000367267	NM_001136504.1	185	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1427.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCAGGAAG	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF208,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	.	ENSP00000356236	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000367267	Transcript	.	.	ENSG00000143858	11510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT2_HUMAN	SYT2	HGNC	.	.	UPI000006E8FC	SNV	SYT2,synonymous_variant,p.%3D,ENST00000367267,;SYT2,synonymous_variant,p.%3D,ENST00000367268,;RP11-569A11.1,upstream_gene_variant,,ENST00000428573,;	748	72	127	SUCCESS
FMOD	2331	.	GRCh37	1	203316593	203316593	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	33	104	0	ENST00000354955.4:c.806A>G	p.Lys269Arg	p.K269R	ENST00000354955	NM_002023.4	269	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS30976.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTTGGGC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF11,hmmpanther:PTHR24371,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000347041	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000354955	Transcript	.	.	ENSG00000122176	3774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.26)	.	FMOD_HUMAN	FMOD	HGNC	Q12833_HUMAN,B4E1J3_HUMAN	.	UPI00000746A2	SNV	FMOD,missense_variant,p.Lys269Arg,ENST00000354955,;FMOD,intron_variant,,ENST00000493296,;FMOD,intron_variant,,ENST00000461936,;	1270	104	173	SUCCESS
AVPR1B	553	.	GRCh37	1	206230897	206230897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	67	128	0	ENST00000367126.4:c.1030C>A	p.His344Asn	p.H344N	ENST00000367126	NM_000707.3	344	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS30994.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCACCTG	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000356094	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367126	Transcript	.	.	ENSG00000198049	896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0.02)	.	V1BR_HUMAN	AVPR1B	HGNC	.	.	UPI000005043A	SNV	AVPR1B,missense_variant,p.His344Asn,ENST00000367126,;	1495	128	238	SUCCESS
CR2	1380	.	GRCh37	1	207646133	207646133	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	37	85	0	ENST00000367058.3:c.1587A>T	p.Pro529=	p.P529=	ENST00000367058	NM_001877.4	529	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31007.1	1587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCACCCCC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Thr504Ser,ENST00000458541,;CR2,synonymous_variant,p.%3D,ENST00000367057,;CR2,synonymous_variant,p.%3D,ENST00000367058,;CR2,synonymous_variant,p.%3D,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000475194,;	1776	85	131	SUCCESS
CAMK2N1	55450	.	GRCh37	1	20811760	20811760	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	43	0	ENST00000375078.3:c.113C>G	p.Ala38Gly	p.A38G	ENST00000375078	NM_018584.5	38	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS207.1	113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGCGCCG	NONE	.	.	hmmpanther:PTHR31007,hmmpanther:PTHR31007:SF2,Pfam_domain:PF15170	.	.	ENSP00000364219	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375078	Transcript	.	.	ENSG00000162545	24190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	CK2N1_HUMAN	CAMK2N1	HGNC	Q7L2B8_HUMAN	.	UPI000013E179	SNV	CAMK2N1,missense_variant,p.Ala38Gly,ENST00000375078,;CAMK2N1,upstream_gene_variant,,ENST00000489020,;	954	43	43	SUCCESS
LAMB3	3914	.	GRCh37	1	209789949	209789949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	45	187	0	ENST00000356082.4:c.3249A>T	p.Gln1083His	p.Q1083H	ENST00000356082	NM_000228.2	1083	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1487.1	3249	RADIA|MUTECT|MUSE|VARSCANS	.	TACTTTTGTTT	NONE	.	.	hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574	.	.	ENSP00000375778	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.281)	.	deleterious(0)	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,missense_variant,p.Gln1083His,ENST00000356082,;LAMB3,missense_variant,p.Gln152His,ENST00000455193,;LAMB3,missense_variant,p.Gln1083His,ENST00000391911,;LAMB3,missense_variant,p.Gln1083His,ENST00000367030,;CAMK1G,downstream_gene_variant,,ENST00000361322,;CAMK1G,downstream_gene_variant,,ENST00000009105,;CAMK1G,downstream_gene_variant,,ENST00000494990,;	3639	187	261	SUCCESS
DIEXF	0	.	GRCh37	1	210015611	210015611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	41	85	0	ENST00000491415.2:c.1487A>G	p.His496Arg	p.H496R	ENST00000491415	NM_014388.6	496	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS1493.1	1487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCATTTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12933,Pfam_domain:PF06862,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000419005	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000491415	Transcript	.	.	ENSG00000117597	28440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	DIEXF_HUMAN	DIEXF	HGNC	B3KVX2_HUMAN	.	UPI000006D987	SNV	DIEXF,missense_variant,p.His496Arg,ENST00000491415,;DIEXF,missense_variant,p.His177Arg,ENST00000457820,;	1544	85	152	SUCCESS
SERTAD4	56256	.	GRCh37	1	210414905	210414905	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	rs145855776	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	25	95	1	ENST00000367012.3:c.294C>A		p.X98_splice	ENST00000367012	NM_019605.3	98	acC/acA	0	T:0.0005	.	.	.	.	A	T	protein_coding	YES	CCDS1494.1	294	RADIA|MUTECT|MUSE|VARSCANS	.	TAGACCATCTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3	.	T:0.0001	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	rs145855776	4/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,synonymous_variant,p.%3D,ENST00000367012,;SERTAD4,splice_region_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;	524	96	151	SUCCESS
KCNH1	3756	.	GRCh37	1	211192594	211192594	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	25	0	ENST00000271751.4:c.563T>A	p.Leu188Gln	p.L188Q	ENST00000271751		188	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1496.1	563	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTAGGACC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377	.	.	ENSP00000271751	.	6/11	.	.	.	.	.	.	.	.	COSM321115	6/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.992)	.	deleterious(0.02)	1	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Leu188Gln,ENST00000367007,;KCNH1,missense_variant,p.Leu188Gln,ENST00000271751,;	591	25	56	SUCCESS
SLC30A1	7779	.	GRCh37	1	211751602	211751602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	40	99	0	ENST00000367001.4:c.353G>T	p.Gly118Val	p.G118V	ENST00000367001	NM_021194.2	118	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1499.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCCCAAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Gene3D:3h90A01,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606	.	.	ENSP00000355968	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.454)	.	tolerated(0.51)	.	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	SNV	SLC30A1,missense_variant,p.Gly118Val,ENST00000367001,;RP11-359E8.5,downstream_gene_variant,,ENST00000567907,;	483	99	190	SUCCESS
C1orf227	0	.	GRCh37	1	213009317	213009317	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs372469118	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	200	185	1	ENST00000332912.3:c.175A>C	p.Thr59Pro	p.T59P	ENST00000332912	NM_001024601.2	59	Act/Cct	0	C:0.0002	.	.	.	.	G	T/P	protein_coding	YES	CCDS31020.1	175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGTAAAGG	NONE	byCluster	.	.	.	C:0	ENSP00000419160	.	2/3	.	.	.	.	.	.	.	.	rs372469118	2/3	PASS	ENST00000332912	Transcript	.	.	ENSG00000185523	33709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	tolerated(0.28)	.	CA227_HUMAN	C1orf227	HGNC	.	.	UPI0000160AFB	SNV	C1orf227,missense_variant,p.Thr59Pro,ENST00000332912,;	283	186	284	SUCCESS
VASH2	79805	.	GRCh37	1	213147174	213147174	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	28	0	ENST00000517399.1:c.880-123C>T		p.*294*	ENST00000517399				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1511.1	.	MUTECT|MUSE	.	TCCTGCTCAAT	NONE	.	.	.	.	.	ENSP00000355932	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366965	Transcript	.	.	ENSG00000143494	25723	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VASH2_HUMAN	VASH2	HGNC	C9JY36_HUMAN	.	UPI000019273A	SNV	VASH2,intron_variant,,ENST00000517399,;VASH2,intron_variant,,ENST00000366965,;VASH2,intron_variant,,ENST00000366966,;VASH2,intron_variant,,ENST00000366968,;VASH2,intron_variant,,ENST00000366967,;VASH2,downstream_gene_variant,,ENST00000366964,;VASH2,non_coding_transcript_exon_variant,,ENST00000271776,;VASH2,downstream_gene_variant,,ENST00000366969,;	.	28	50	SUCCESS
GPATCH2	55105	.	GRCh37	1	217783743	217783743	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	55	0	ENST00000366935.3:c.1019-1G>T		p.X340_splice	ENST00000366935	NM_018040.2	340		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1518.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCTGTAA	NONE	.	.	.	.	.	ENSP00000355902	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366935	Transcript	.	.	ENSG00000092978	25499	.	.	HIGH	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPTC2_HUMAN	GPATCH2	HGNC	.	.	UPI000004A012	SNV	GPATCH2,splice_acceptor_variant,,ENST00000366935,;GPATCH2,splice_acceptor_variant,,ENST00000366934,;GPATCH2,upstream_gene_variant,,ENST00000485274,;GPATCH2,upstream_gene_variant,,ENST00000470014,;	.	55	116	SUCCESS
RAP1GAP	5909	.	GRCh37	1	21940198	21940198	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	48	0	ENST00000374765.4:c.397A>T	p.Thr133Ser	p.T133S	ENST00000374765	NM_002885.2	133	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS53277.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTCCTGA	NONE	.	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF3,Superfamily_domains:0043732	.	.	ENSP00000290101	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000290101	Transcript	.	.	ENSG00000076864	9858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.98)	.	RPGP1_HUMAN	RAP1GAP	HGNC	Q5T3T1_HUMAN,Q5T3T0_HUMAN,Q5T3S6_HUMAN	.	UPI0000EE7109	SNV	RAP1GAP,missense_variant,p.Thr133Ser,ENST00000542643,;RAP1GAP,missense_variant,p.Thr164Ser,ENST00000374761,;RAP1GAP,missense_variant,p.Thr133Ser,ENST00000374765,;RAP1GAP,missense_variant,p.Thr197Ser,ENST00000359708,;RAP1GAP,missense_variant,p.Thr197Ser,ENST00000290101,;RAP1GAP,missense_variant,p.Thr133Ser,ENST00000374763,;RAP1GAP,downstream_gene_variant,,ENST00000447293,;RAP1GAP,downstream_gene_variant,,ENST00000599760,;RAP1GAP,downstream_gene_variant,,ENST00000317967,;RAP1GAP,splice_region_variant,,ENST00000374757,;RAP1GAP,missense_variant,p.Thr133Ser,ENST00000471600,;RAP1GAP,missense_variant,p.Thr133Ser,ENST00000495204,;	622	48	34	SUCCESS
EPRS	0	.	GRCh37	1	220156702	220156702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	348	89	271	1	ENST00000366923.3:c.3129A>G	p.Ile1043Met	p.I1043M	ENST00000366923	NM_004446.2	1043	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS31027.1	3129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTATGTC	NONE	.	.	Superfamily_domains:SSF55681,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00408,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119,HAMAP:MF_01571	.	.	ENSP00000355890	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0)	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,missense_variant,p.Ile1043Met,ENST00000366923,;EPRS,downstream_gene_variant,,ENST00000609181,;snoU13,downstream_gene_variant,,ENST00000459217,;EPRS,non_coding_transcript_exon_variant,,ENST00000485821,;	3399	272	438	SUCCESS
WNT4	54361	.	GRCh37	1	22446623	22446623	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	55	0	ENST00000290167.6:c.976T>C	p.Cys326Arg	p.C326R	ENST00000290167	NM_030761.4	326	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS223.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGCGTT	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF85,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000290167	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000290167	Transcript	.	.	ENSG00000162552	12783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WNT4_HUMAN	WNT4	HGNC	B4DJF9_HUMAN	.	UPI0000048EC6	SNV	WNT4,missense_variant,p.Cys326Arg,ENST00000290167,;WNT4,missense_variant,p.Cys271Arg,ENST00000542383,;	1020	55	33	SUCCESS
DNAH14	127602	.	GRCh37	1	225270296	225270296	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	339	97	247	0	ENST00000445597.2:c.2938+1846C>T		p.*980*	ENST00000445597		139		0	.	.	.	.	.	T	T/I	protein_coding	.	.	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAACAGAGT	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF132	.	.	ENSP00000332424	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000328556	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.16)	.	.	DNAH14	HGNC	H9KV43_HUMAN	.	UPI000198C4F6	SNV	DNAH14,missense_variant,p.Thr139Ile,ENST00000328556,;DNAH14,missense_variant,p.Thr1061Ile,ENST00000430092,;DNAH14,missense_variant,p.Thr1061Ile,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;	416	247	437	SUCCESS
ZNF678	339500	.	GRCh37	1	227834348	227834348	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	64	55	1	ENST00000343776.5:c.-60A>G		p.*20*	ENST00000343776	NM_178549.3			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAACTACA	NONE	.	.	.	.	.	ENSP00000344828	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000343776	Transcript	.	.	ENSG00000181450	28652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN678_HUMAN	ZNF678	HGNC	.	.	UPI000019862A	SNV	ZNF678,missense_variant,p.Asn76Ser,ENST00000397097,;ZNF678,missense_variant,p.Asn76Ser,ENST00000440339,;ZNF678,5_prime_UTR_variant,,ENST00000608949,;ZNF678,5_prime_UTR_variant,,ENST00000343776,;AL592310.1,downstream_gene_variant,,ENST00000580546,;ZNF678,non_coding_transcript_exon_variant,,ENST00000465266,;ZNF678,non_coding_transcript_exon_variant,,ENST00000497098,;	286	56	93	SUCCESS
OBSCN	84033	.	GRCh37	1	228462464	228462464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	67	0	ENST00000422127.1:c.5875G>T	p.Asp1959Tyr	p.D1959Y	ENST00000422127	NM_001098623.2	1959	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS59204.1	7000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAGACCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	24/116	.	.	.	.	.	.	.	.	.	24/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Asp1959Tyr,ENST00000284548,;OBSCN,missense_variant,p.Asp806Tyr,ENST00000359599,;OBSCN,missense_variant,p.Asp2334Tyr,ENST00000570156,;OBSCN,missense_variant,p.Asp1959Tyr,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602529,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602947,;	7074	67	89	SUCCESS
OBSCN	84033	.	GRCh37	1	228559946	228559946	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	36	109	0	ENST00000422127.1:c.21467A>T	p.Glu7156Val	p.E7156V	ENST00000422127	NM_001098623.2	7156	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS59204.1	24338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGAGGATC	BUFFER|p.D7869N|c.23605G>A|3,BUFFER|p.D7739N|c.23215G>A|3	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	105/116	.	.	.	.	.	.	.	.	.	105/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Glu4790Val,ENST00000366707,;OBSCN,missense_variant,p.Glu1773Val,ENST00000441106,;OBSCN,missense_variant,p.Glu7156Val,ENST00000422127,;OBSCN,missense_variant,p.Glu8113Val,ENST00000570156,;	24412	109	181	SUCCESS
C1orf131	128061	.	GRCh37	1	231360249	231360249	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	19	0	ENST00000366649.2:c.747-89G>A		p.*249*	ENST00000366649				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1591.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCCTGCA	NONE	.	.	.	.	.	ENSP00000355609	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366649	Transcript	.	.	ENSG00000143633	25332	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA131_HUMAN	C1orf131	HGNC	Q5TBH9_HUMAN	.	UPI000013E1F8	SNV	C1orf131,3_prime_UTR_variant,,ENST00000318906,;C1orf131,intron_variant,,ENST00000451322,;C1orf131,intron_variant,,ENST00000366649,;C1orf131,intron_variant,,ENST00000366651,;TRIM67,downstream_gene_variant,,ENST00000444294,;TRIM67,downstream_gene_variant,,ENST00000366652,;C1orf131,intron_variant,,ENST00000462669,;C1orf131,downstream_gene_variant,,ENST00000486384,;C1orf131,downstream_gene_variant,,ENST00000495795,;	.	19	44	SUCCESS
TSNAX	7257	.	GRCh37	1	231700443	231700443	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762657262	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	231	218	0	ENST00000366639.4:c.665G>T	p.Arg222Leu	p.R222L	ENST00000366639	NM_005999.2	222	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1596.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACGTCAGG	NONE	byFrequency	.	Superfamily_domains:0047790,Gene3D:1j1jA02,Pfam_domain:PF01997,hmmpanther:PTHR10741,hmmpanther:PTHR10741:SF4	.	.	ENSP00000355599	.	6/6	.	.	.	.	.	.	.	.	rs762657262,COSM4029464,COSM3705625	6/6	PASS	ENST00000366639	Transcript	.	.	ENSG00000116918	12380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.99)	.	deleterious(0)	0,1,1	TSNAX_HUMAN	TSNAX	HGNC	Q9NRI2_HUMAN	.	UPI0000137768	SNV	TSNAX,missense_variant,p.Arg222Leu,ENST00000366639,;TSNAX,downstream_gene_variant,,ENST00000413309,;TSNAX,non_coding_transcript_exon_variant,,ENST00000475168,;TSNAX-DISC1,intron_variant,,ENST00000602885,;TSNAX-DISC1,intron_variant,,ENST00000602956,;TSNAX-DISC1,intron_variant,,ENST00000602634,;TSNAX-DISC1,intron_variant,,ENST00000602567,;TSNAX-DISC1,intron_variant,,ENST00000602962,;	823	218	341	SUCCESS
DISC1	27185	.	GRCh37	1	231829654	231829654	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	23	83	0	ENST00000439617.2:c.150A>T	p.Thr50=	p.T50=	ENST00000439617	NM_001164540.1	50	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS53482.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACAGGGCC	NONE	.	.	hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332	.	.	ENSP00000355593	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,synonymous_variant,p.%3D,ENST00000539444,;DISC1,synonymous_variant,p.%3D,ENST00000439617,;DISC1,synonymous_variant,p.%3D,ENST00000317586,;DISC1,synonymous_variant,p.%3D,ENST00000535983,;DISC1,synonymous_variant,p.%3D,ENST00000602281,;DISC1,synonymous_variant,p.%3D,ENST00000366633,;DISC1,synonymous_variant,p.%3D,ENST00000366636,;DISC1,synonymous_variant,p.%3D,ENST00000537876,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,intron_variant,,ENST00000602873,;DISC1,non_coding_transcript_exon_variant,,ENST00000602600,;DISC1,synonymous_variant,p.%3D,ENST00000295051,;DISC1,synonymous_variant,p.%3D,ENST00000602822,;DISC1,synonymous_variant,p.%3D,ENST00000366632,;DISC1,synonymous_variant,p.%3D,ENST00000602713,;DISC1,synonymous_variant,p.%3D,ENST00000602700,;DISC1,synonymous_variant,p.%3D,ENST00000535944,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	203	84	128	SUCCESS
MLK4	0	.	GRCh37	1	233515084	233515084	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs745552214	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	55	165	1	ENST00000366624.3:c.2332A>T	p.Thr778Ser	p.T778S	ENST00000366624	NM_032435.2	778	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS1598.1	2332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCACAAGC	NONE	.	.	PIRSF_domain:PIRSF000556,Low_complexity_(Seg):seg	.	.	ENSP00000355583	.	9/10	.	.	.	.	.	.	.	.	rs745552214	9/10	PASS	ENST00000366624	Transcript	.	.	ENSG00000143674	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(1)	.	M3KL4_HUMAN	MLK4	Uniprot_gn	.	.	UPI000013D922	SNV	MLK4,missense_variant,p.Thr778Ser,ENST00000366624,;MLK4,missense_variant,p.Thr224Ser,ENST00000366622,;	2593	166	270	SUCCESS
RYR2	6262	.	GRCh37	1	237532841	237532841	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	130	123	2	ENST00000366574.2:c.317A>T	p.Gln106Leu	p.Q106L	ENST00000366574	NM_001035.2	106	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS55691.1	317	RADIA|VARSCANS	.	TGCTCAAGGTG	NONE	.	.	Pfam_domain:PF08709,Gene3D:2.80.10.50,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	6/105	.	.	.	.	.	.	.	.	.	6/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Gln90Leu,ENST00000542537,;RYR2,missense_variant,p.Gln106Leu,ENST00000366574,;RYR2,missense_variant,p.Gln104Leu,ENST00000360064,;	634	125	188	SUCCESS
RYR2	6262	.	GRCh37	1	237666678	237666678	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	187	175	1	ENST00000366574.2:c.2486A>T	p.Lys829Ile	p.K829I	ENST00000366574	NM_001035.2	829	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS55691.1	2486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAAAGAAA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	22/105	.	.	.	.	.	.	.	.	.	22/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Lys813Ile,ENST00000542537,;RYR2,missense_variant,p.Lys829Ile,ENST00000366574,;RYR2,missense_variant,p.Lys827Ile,ENST00000360064,;	2803	176	260	SUCCESS
RYR2	6262	.	GRCh37	1	237947958	237947958	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	115	93	1	ENST00000366574.2:c.12946G>T	p.Gly4316Ter	p.G4316*	ENST00000366574	NM_001035.2	4316	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS55691.1	12946	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGGAAGC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	COSM1501557	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,stop_gained,p.Gly4300Ter,ENST00000542537,;RYR2,stop_gained,p.Gly4316Ter,ENST00000366574,;RYR2,stop_gained,p.Gly4322Ter,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	13263	95	176	SUCCESS
C1orf101	0	.	GRCh37	1	244681971	244681971	+	synonymous_variant	Silent	SNP	T	T	G	rs757293745	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	455	128	361	0	ENST00000366534.4:c.507T>G	p.Val169=	p.V169=	ENST00000366534	NM_001130957.1	169	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44340.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTTATTC	NONE	.	.	.	.	.	ENSP00000355492	.	8/22	.	.	.	.	.	.	.	.	rs757293745	8/22	PASS	ENST00000366534	Transcript	.	.	ENSG00000179397	28491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA101_HUMAN	C1orf101	HGNC	.	.	UPI00004701CD	SNV	C1orf101,synonymous_variant,p.%3D,ENST00000366533,;C1orf101,synonymous_variant,p.%3D,ENST00000366534,;C1orf101,synonymous_variant,p.%3D,ENST00000366531,;C1orf101,intron_variant,,ENST00000428042,;C1orf101,non_coding_transcript_exon_variant,,ENST00000464170,;C1orf101,intron_variant,,ENST00000460986,;C1orf101,intron_variant,,ENST00000478554,;C1orf101,intron_variant,,ENST00000473875,;	561	361	583	SUCCESS
KIF26B	55083	.	GRCh37	1	245772585	245772585	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	377	100	310	1	ENST00000407071.2:c.1669A>T	p.Ile557Phe	p.I557F	ENST00000407071	NM_018012.3	557	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS44342.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGATCGGA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000385545	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Ile557Phe,ENST00000407071,;KIF26B,missense_variant,p.Ile176Phe,ENST00000366518,;	2109	311	477	SUCCESS
ZNF496	84838	.	GRCh37	1	247492170	247492170	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	66	1	ENST00000294753.4:c.391-2A>G		p.X131_splice	ENST00000294753	NM_032752.1	131		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1631.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TGAGCTGCAAT	NONE	.	.	.	.	.	ENSP00000294753	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294753	Transcript	.	.	ENSG00000162714	23713	.	.	HIGH	3/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN496_HUMAN	ZNF496	HGNC	.	.	UPI000007025B	SNV	ZNF496,splice_acceptor_variant,,ENST00000366498,;ZNF496,splice_acceptor_variant,,ENST00000461277,;ZNF496,splice_acceptor_variant,,ENST00000294753,;ZNF496,splice_acceptor_variant,,ENST00000477903,;ZNF496,splice_acceptor_variant,,ENST00000478225,;	.	67	64	SUCCESS
OR2G3	81469	.	GRCh37	1	247769234	247769234	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	184	166	1	ENST00000320002.2:c.347C>A	p.Ala116Asp	p.A116D	ENST00000320002	NM_001001914.1	116	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS31093.1	347	RADIA|VARSCANS	.	CTTGGCTGACA	BUFFER|p.I113I|c.339C>T|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326301	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320002	Transcript	.	.	ENSG00000177476	15008	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	OR2G3_HUMAN	OR2G3	HGNC	.	.	UPI0000041CD9	SNV	OR2G3,missense_variant,p.Ala116Asp,ENST00000320002,;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	379	168	261	SUCCESS
OR14A16	284532	.	GRCh37	1	247978552	247978552	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	48	120	0	ENST00000357627.1:c.480C>A	p.Gly160=	p.G160=	ENST00000357627	NM_001001966.1	160	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31097.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGCCAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350248	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	SNV	OR14A16,synonymous_variant,p.%3D,ENST00000357627,;	480	120	215	SUCCESS
OR2M3	127062	.	GRCh37	1	248366439	248366439	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	404	104	311	0	ENST00000456743.1:c.70C>T	p.His24Tyr	p.H24Y	ENST00000456743	NM_001004689.1	24	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS31107.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCACACC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453	.	.	ENSP00000389625	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000456743	Transcript	.	.	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0.04)	.	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.His24Tyr,ENST00000456743,;	108	311	509	SUCCESS
OR2M7	391196	.	GRCh37	1	248487089	248487089	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775029119	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	277	78	227	1	ENST00000317965.2:c.782A>T	p.Gln261Leu	p.Q261L	ENST00000317965	NM_001004691.1	261	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS31111.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCTGAATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324557	.	1/1	.	.	.	.	.	.	.	.	rs775029119	1/1	PASS	ENST00000317965	Transcript	.	.	ENSG00000177186	19594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.49)	.	OR2M7_HUMAN	OR2M7	HGNC	.	.	UPI000004B236	SNV	OR2M7,missense_variant,p.Gln261Leu,ENST00000317965,;	811	228	356	SUCCESS
OR2G6	391211	.	GRCh37	1	248685871	248685871	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	36	0	ENST00000343414.4:c.924T>C	p.Ser308=	p.S308=	ENST00000343414	NM_001013355.1	308	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31119.1	924	RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGTGCTGC	NONE	.	.	hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,synonymous_variant,p.%3D,ENST00000343414,;	956	36	67	SUCCESS
ZNF683	257101	.	GRCh37	1	26694278	26694278	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758013587	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	100	0	ENST00000403843.1:c.125C>G	p.Ala42Gly	p.A42G	ENST00000403843		42	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS279.2	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGCTGAG	NONE	byFrequency	.	hmmpanther:PTHR23228:SF112,hmmpanther:PTHR23228	.	.	ENSP00000363320	.	3/6	.	.	.	.	.	.	.	.	rs758013587	3/6	PASS	ENST00000374204	Transcript	.	.	ENSG00000176083	28495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.07)	.	ZN683_HUMAN	ZNF683	HGNC	.	.	UPI000006F8C4	SNV	ZNF683,missense_variant,p.Ala42Gly,ENST00000451801,;ZNF683,missense_variant,p.Ala42Gly,ENST00000349618,;ZNF683,missense_variant,p.Ala42Gly,ENST00000436292,;ZNF683,missense_variant,p.Ala42Gly,ENST00000403843,;ZNF683,missense_variant,p.Ala50Gly,ENST00000455900,;ZNF683,missense_variant,p.Ala42Gly,ENST00000416125,;ZNF683,missense_variant,p.Ala42Gly,ENST00000374204,;ZNF683,missense_variant,p.Ala50Gly,ENST00000423508,;ZNF683,intron_variant,,ENST00000454975,;ZNF683,intron_variant,,ENST00000453132,;	243	100	73	SUCCESS
NUDC	10726	.	GRCh37	1	27268120	27268120	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	15	187	0	ENST00000321265.5:c.332A>G	p.Glu111Gly	p.E111G	ENST00000321265	NM_006600.3	111	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS292.1	332	MUTECT|MUSE|VARSCANS	.	TGAAGAGGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12356	.	.	ENSP00000319664	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000321265	Transcript	.	.	ENSG00000090273	8045	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	NUDC_HUMAN	NUDC	HGNC	.	.	UPI000006D29B	SNV	NUDC,missense_variant,p.Glu111Gly,ENST00000321265,;NUDC,missense_variant,p.Glu115Gly,ENST00000435827,;NUDC,missense_variant,p.Glu62Gly,ENST00000452707,;NUDC,upstream_gene_variant,,ENST00000484772,;	455	187	161	SUCCESS
LAPTM5	7805	.	GRCh37	1	31215394	31215394	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	92	0	ENST00000294507.3:c.90C>G	p.Ile30Met	p.I30M	ENST00000294507	NM_006762.2	30	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS337.1	90	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATGATCTG	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00799,Pfam_domain:PF03821,hmmpanther:PTHR12479:SF2,hmmpanther:PTHR12479	.	.	ENSP00000294507	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000294507	Transcript	.	.	ENSG00000162511	29612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0)	.	LAPM5_HUMAN	LAPTM5	HGNC	Q5TBB8_HUMAN	.	UPI000012E20A	SNV	LAPTM5,missense_variant,p.Ile30Met,ENST00000294507,;MIR4420,upstream_gene_variant,,ENST00000583944,;LAPTM5,splice_region_variant,,ENST00000476492,;LAPTM5,splice_region_variant,,ENST00000464569,;	165	92	51	SUCCESS
PEF1	553115	.	GRCh37	1	32101091	32101091	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	95	285	0	ENST00000373703.4:c.57A>T	p.Gly19=	p.G19=	ENST00000373703	NM_012392.3	19	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS345.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10183	.	.	ENSP00000362807	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000373703	Transcript	.	.	ENSG00000162517	30009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEF1_HUMAN	PEF1	HGNC	.	.	UPI00000389E4	SNV	PEF1,synonymous_variant,p.%3D,ENST00000373703,;PEF1,synonymous_variant,p.%3D,ENST00000440872,;HCRTR1,downstream_gene_variant,,ENST00000373705,;PEF1,non_coding_transcript_exon_variant,,ENST00000472443,;PEF1,non_coding_transcript_exon_variant,,ENST00000492061,;PEF1,non_coding_transcript_exon_variant,,ENST00000489164,;PEF1,non_coding_transcript_exon_variant,,ENST00000496805,;PEF1,intron_variant,,ENST00000478502,;PEF1,upstream_gene_variant,,ENST00000461006,;PEF1,upstream_gene_variant,,ENST00000471219,;	80	285	244	SUCCESS
TXLNA	200081	.	GRCh37	1	32645758	32645758	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	37	0	ENST00000373609.1:c.-189C>T		p.*63*	ENST00000373609				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS353.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCTGAC	NONE	.	.	.	.	.	ENSP00000362711	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000373609	Transcript	.	.	ENSG00000084652	30685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXLNA_HUMAN	TXLNA	HGNC	.	.	UPI000000D7D9	SNV	TXLNA,5_prime_UTR_variant,,ENST00000373609,;TXLNA,intron_variant,,ENST00000373610,;KPNA6,downstream_gene_variant,,ENST00000373625,;RP4-622L5.2,downstream_gene_variant,,ENST00000515055,;	93	37	29	SUCCESS
CSMD2	114784	.	GRCh37	1	34174805	34174805	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	rs749364603	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	139	1	ENST00000241312.4:c.3340T>C	p.Phe1114Leu	p.F1114L	ENST00000241312		1114	Ttt/Ctt	0	.	.	.	.	.	G	F/L	nonsense_mediated_decay	YES	CCDS380.1	3340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAAGTTGG	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	22/70	.	.	.	.	.	.	.	.	rs749364603,COSM380740	22/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.648)	.	deleterious(0)	0,1	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Phe1154Leu,ENST00000373381,;CSMD2,missense_variant,p.Phe27Leu,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,missense_variant,p.Phe1114Leu,ENST00000241312,;	3369	140	91	SUCCESS
C1orf94	84970	.	GRCh37	1	34663030	34663030	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	80	0	ENST00000488417.1:c.525A>T	p.Arg175Ser	p.R175S	ENST00000488417	NM_001134734.1	175	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS44108.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAGCCTC	NONE	.	.	.	.	.	ENSP00000435634	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.36)	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,missense_variant,p.Arg175Ser,ENST00000488417,;C1orf94,5_prime_UTR_variant,,ENST00000373374,;	645	80	96	SUCCESS
TFAP2E	339488	.	GRCh37	1	36039116	36039116	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	32	0	ENST00000373235.3:c.-63A>C		p.*21*	ENST00000373235	NM_178548.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS393.2	.	MUTECT|MUSE	.	CCCGCAGCGCT	NONE	.	.	.	.	.	ENSP00000362332	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000373235	Transcript	.	.	ENSG00000116819	30774	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AP2E_HUMAN	TFAP2E	HGNC	.	.	UPI0000203EFC	SNV	TFAP2E,5_prime_UTR_variant,,ENST00000373235,;RP4-728D4.2,intron_variant,,ENST00000425881,;RP4-728D4.2,intron_variant,,ENST00000444348,;	146	32	8	SUCCESS
GRIK3	2899	.	GRCh37	1	37315910	37315910	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	48	0	ENST00000373091.3:c.1326+2T>C		p.X442_splice	ENST00000373091	NM_000831.3	442		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS416.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTACCAGC	NONE	.	.	.	.	.	ENSP00000362183	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373091	Transcript	.	.	ENSG00000163873	4581	.	.	HIGH	9/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK3_HUMAN	GRIK3	HGNC	Q96SC0_HUMAN	.	UPI000013E311	SNV	GRIK3,splice_donor_variant,,ENST00000373093,;GRIK3,splice_donor_variant,,ENST00000373091,;GRIK3,splice_donor_variant,,ENST00000462621,;GRIK3,non_coding_transcript_exon_variant,,ENST00000479620,;	.	48	43	SUCCESS
KLF17	128209	.	GRCh37	1	44595431	44595431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745344925	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	79	0	ENST00000372299.3:c.488C>T	p.Ser163Phe	p.S163F	ENST00000372299	NM_173484.3	163	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS508.1	488	RADIA|MUTECT|MUSE	.	GGCTTCCACTG	NONE	byFrequency	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF5	.	.	ENSP00000361373	.	2/4	.	.	.	.	.	.	.	.	rs745344925	2/4	PASS	ENST00000372299	Transcript	.	.	ENSG00000171872	18830	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.241)	.	tolerated(0.06)	.	KLF17_HUMAN	KLF17	HGNC	.	.	UPI000013E95E	SNV	KLF17,missense_variant,p.Ser163Phe,ENST00000372299,;KLF17,intron_variant,,ENST00000476802,;	546	79	81	SUCCESS
NSUN4	387338	.	GRCh37	1	46810731	46810732	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	78	28	67	0	ENST00000474844.1:c.352_353insT	p.Pro118LeufsTer18	p.P118Lfs*18	ENST00000474844	NM_199044.3	118	cca/cTca	0	.	.	.	.	.	T	P/LX	protein_coding	YES	CCDS534.1	352-353	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCCCCATCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF3	.	.	ENSP00000419740	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000474844	Transcript	.	.	ENSG00000117481	31802	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NSUN4_HUMAN	NSUN4	HGNC	.	.	UPI000013EBC5	insertion	NSUN4,frameshift_variant,p.Pro69LeufsTer18,ENST00000536062,;NSUN4,frameshift_variant,p.Pro118LeufsTer18,ENST00000474844,;NSUN4,frameshift_variant,p.Pro69LeufsTer18,ENST00000537428,;NSUN4,non_coding_transcript_exon_variant,,ENST00000475281,;NSUN4,non_coding_transcript_exon_variant,,ENST00000471871,;NSUN4,non_coding_transcript_exon_variant,,ENST00000498008,;NSUN4,non_coding_transcript_exon_variant,,ENST00000469918,;NSUN4,non_coding_transcript_exon_variant,,ENST00000486270,;NSUN4,intron_variant,,ENST00000495427,;NSUN4,downstream_gene_variant,,ENST00000472157,;NSUN4,frameshift_variant,p.Pro118LeufsTer18,ENST00000307089,;	1002-1003	67	106	SUCCESS
ZFYVE9	9372	.	GRCh37	1	52761649	52761649	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs1174780592	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	110	0	ENST00000287727.3:c.3333A>G		p.X1111_splice	ENST00000287727	NM_004799.3	1111	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS563.1	3333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCAGTAAG	NONE	.	.	Pfam_domain:PF11979,PIRSF_domain:PIRSF037289	.	.	ENSP00000287727	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000287727	Transcript	.	.	ENSG00000157077	6775	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFYV9_HUMAN	ZFYVE9	HGNC	.	.	UPI0000001620	SNV	ZFYVE9,synonymous_variant,p.%3D,ENST00000371591,;ZFYVE9,synonymous_variant,p.%3D,ENST00000357206,;ZFYVE9,synonymous_variant,p.%3D,ENST00000287727,;ZFYVE9,splice_region_variant,,ENST00000469134,;	3505	110	94	SUCCESS
ROR1	4919	.	GRCh37	1	64515633	64515633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	89	0	ENST00000371079.1:c.434T>C	p.Val145Ala	p.V145A	ENST00000371079	NM_005012.3	145	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS626.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTCTTGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000624,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000360120	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000371079	Transcript	.	.	ENSG00000185483	10256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	.	deleterious(0.01)	.	ROR1_HUMAN	ROR1	HGNC	.	.	UPI00001AF82C	SNV	ROR1,missense_variant,p.Val145Ala,ENST00000371080,;ROR1,missense_variant,p.Val145Ala,ENST00000371079,;ROR1,non_coding_transcript_exon_variant,,ENST00000482426,;	809	89	70	SUCCESS
PHF13	148479	.	GRCh37	1	6679911	6679911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	88	244	1	ENST00000377648.4:c.190A>G	p.Thr64Ala	p.T64A	ENST00000377648	NM_153812.2	64	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS85.1	190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTACCATT	NONE	.	.	hmmpanther:PTHR14571:SF10,hmmpanther:PTHR14571	.	.	ENSP00000366876	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000377648	Transcript	.	.	ENSG00000116273	22983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.03)	.	PHF13_HUMAN	PHF13	HGNC	.	.	UPI000013C9BF	SNV	PHF13,missense_variant,p.Thr64Ala,ENST00000377648,;PHF13,intron_variant,,ENST00000495385,;	572	246	245	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74621535	74621535	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	130	316	0	ENST00000354431.4:c.589G>A	p.Glu197Lys	p.E197K	ENST00000354431	NM_001105659.1	197	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41350.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTCTTCAT	NONE	.	.	hmmpanther:PTHR10588:SF206,hmmpanther:PTHR10588	.	.	ENSP00000346414	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000354431	Transcript	.	.	ENSG00000162620	28318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.01)	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,missense_variant,p.Glu32Lys,ENST00000444984,;LRRIQ3,missense_variant,p.Glu89Lys,ENST00000370909,;LRRIQ3,missense_variant,p.Glu197Lys,ENST00000395089,;LRRIQ3,missense_variant,p.Glu197Lys,ENST00000354431,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000495179,;LRRIQ3,upstream_gene_variant,,ENST00000468759,;LRRIQ3,missense_variant,p.Glu197Lys,ENST00000415760,;	781	316	338	SUCCESS
TNNI3K	51086	.	GRCh37	1	74833633	74833633	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	105	352	0	ENST00000326637.3:c.1306A>T	p.Lys436Ter	p.K436*	ENST00000326637	NM_015978.2	436	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS44161.2	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTAAAAGC	NONE	.	.	hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257	.	.	ENSP00000450895	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000557284	Transcript	.	.	ENSG00000259030	42952	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FPGT-TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI0001EECC26	SNV	FPGT-TNNI3K,stop_gained,p.Lys537Ter,ENST00000370895,;TNNI3K,stop_gained,p.Lys436Ter,ENST00000326637,;FPGT-TNNI3K,stop_gained,p.Lys537Ter,ENST00000370899,;FPGT-TNNI3K,stop_gained,p.Lys158Ter,ENST00000534632,;TNNI3K,stop_gained,p.Lys537Ter,ENST00000370891,;FPGT-TNNI3K,stop_gained,p.Lys550Ter,ENST00000557284,;TNNI3K,upstream_gene_variant,,ENST00000534020,;TNNI3K,upstream_gene_variant,,ENST00000526236,;TNNI3K,upstream_gene_variant,,ENST00000525480,;RP11-439H8.4,intron_variant,,ENST00000415549,;TNNI3K,upstream_gene_variant,,ENST00000497284,;	1653	352	313	SUCCESS
TNNI3K	51086	.	GRCh37	1	74901765	74901765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs567089878	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	120	0	ENST00000326637.3:c.1774C>A	p.His592Asn	p.H592N	ENST00000326637	NM_015978.2	592	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	.	2077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCACAAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000359928	.	20/27	.	.	.	.	.	.	.	.	rs567089878	20/27	PASS	ENST00000370891	Transcript	.	.	ENSG00000116783	19661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	tolerated(0.12)	.	TNI3K_HUMAN	TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI00005E2707	SNV	TNNI3K,missense_variant,p.His693Asn,ENST00000370891,;FPGT-TNNI3K,missense_variant,p.His706Asn,ENST00000557284,;TNNI3K,missense_variant,p.His592Asn,ENST00000326637,;FPGT-TNNI3K,missense_variant,p.His693Asn,ENST00000370899,;TNNI3K,intron_variant,,ENST00000534020,;TNNI3K,upstream_gene_variant,,ENST00000370889,;	2093	120	98	SUCCESS
C1orf173	0	.	GRCh37	1	75039093	75039093	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	122	0	ENST00000326665.5:c.2301T>C	p.Tyr767=	p.Y767=	ENST00000326665	NM_001002912.4	767	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS30755.1	2301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTATACGT	NONE	.	.	hmmpanther:PTHR23034	.	.	ENSP00000322609	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,synonymous_variant,p.%3D,ENST00000326665,;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	2520	122	94	SUCCESS
GBP6	163351	.	GRCh37	1	89848365	89848365	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	50	188	0	ENST00000370456.4:c.1295A>G	p.His432Arg	p.H432R	ENST00000370456	NM_198460.2	432	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS723.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCACAAGC	NONE	.	.	hmmpanther:PTHR10751:SF33,hmmpanther:PTHR10751,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397	.	.	ENSP00000359485	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000370456	Transcript	.	.	ENSG00000183347	25395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	GBP6_HUMAN	GBP6	HGNC	F5H7G9_HUMAN	.	UPI00001D7DF5	SNV	GBP6,missense_variant,p.His302Arg,ENST00000535065,;GBP6,missense_variant,p.His432Arg,ENST00000370456,;	1388	188	154	SUCCESS
BRDT	676	.	GRCh37	1	92428482	92428482	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	41	119	0	ENST00000362005.3:c.171T>C	p.Asp57=	p.D57=	ENST00000362005	NM_001242805.1	57	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS735.1	171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATGCTGT	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133,PROSITE_patterns:PS00633,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503	.	.	ENSP00000354568	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000362005	Transcript	.	.	ENSG00000137948	1105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRDT_HUMAN	BRDT	HGNC	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN	.	UPI000013D0E1	SNV	BRDT,synonymous_variant,p.%3D,ENST00000440509,;BRDT,synonymous_variant,p.%3D,ENST00000426141,;BRDT,synonymous_variant,p.%3D,ENST00000548992,;BRDT,synonymous_variant,p.%3D,ENST00000402388,;BRDT,synonymous_variant,p.%3D,ENST00000450792,;BRDT,synonymous_variant,p.%3D,ENST00000394530,;BRDT,synonymous_variant,p.%3D,ENST00000399546,;BRDT,synonymous_variant,p.%3D,ENST00000427104,;BRDT,synonymous_variant,p.%3D,ENST00000362005,;BRDT,synonymous_variant,p.%3D,ENST00000423434,;BRDT,synonymous_variant,p.%3D,ENST00000448194,;BRDT,5_prime_UTR_variant,,ENST00000552654,;BRDT,intron_variant,,ENST00000370389,;BRDT,downstream_gene_variant,,ENST00000449584,;BRDT,downstream_gene_variant,,ENST00000355011,;BRDT,downstream_gene_variant,,ENST00000457265,;	589	119	120	SUCCESS
EPHX4	253152	.	GRCh37	1	92495735	92495735	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	85	1	ENST00000370383.4:c.99C>A	p.Ser33=	p.S33=	ENST00000370383	NM_173567.4	33	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS736.1	99	RADIA|MUTECT|MUSE	.	GCCTCCATCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10992:SF278,hmmpanther:PTHR10992	.	.	ENSP00000359410	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000370383	Transcript	.	.	ENSG00000172031	23758	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPHX4_HUMAN	EPHX4	HGNC	.	.	UPI000013E9F5	SNV	EPHX4,synonymous_variant,p.%3D,ENST00000370383,;EPHX4,upstream_gene_variant,,ENST00000480758,;	197	86	97	SUCCESS
ABCA4	24	.	GRCh37	1	94568641	94568641	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	101	0	ENST00000370225.3:c.500T>G	p.Leu167Arg	p.L167R	ENST00000370225	NM_000350.2	167	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS747.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGAGAAAT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	5/50	.	.	.	.	.	.	.	.	.	5/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Leu167Arg,ENST00000370225,;ABCA4,missense_variant,p.Leu167Arg,ENST00000535735,;	587	101	90	SUCCESS
SEC23B	10483	.	GRCh37	20	18491619	18491619	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	98	200	0	ENST00000262544.2:c.140A>G	p.Glu47Gly	p.E47G	ENST00000262544		47	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS13137.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGAACGTC	NONE	.	.	hmmpanther:PTHR11141:SF3,hmmpanther:PTHR11141,Superfamily_domains:SSF81995	.	.	ENSP00000338844	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000336714	Transcript	1	.	ENSG00000101310	10702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.03)	.	SC23B_HUMAN	SEC23B	HGNC	Q5QPE2_HUMAN,B4DS04_HUMAN	.	UPI0000135455	SNV	SEC23B,missense_variant,p.Glu47Gly,ENST00000377475,;SEC23B,missense_variant,p.Glu47Gly,ENST00000377465,;SEC23B,missense_variant,p.Glu47Gly,ENST00000336714,;SEC23B,missense_variant,p.Glu47Gly,ENST00000262544,;SEC23B,missense_variant,p.Glu47Gly,ENST00000450074,;SEC23B,downstream_gene_variant,,ENST00000474619,;SEC23B,upstream_gene_variant,,ENST00000494645,;	572	200	222	SUCCESS
C20orf26	0	.	GRCh37	20	20144825	20144825	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	71	0	ENST00000245957.5:c.1158T>A	p.Ala386=	p.A386=	ENST00000245957	NM_015585.3	386	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33447.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTGCTTT	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,synonymous_variant,p.%3D,ENST00000451767,;C20orf26,synonymous_variant,p.%3D,ENST00000377306,;C20orf26,synonymous_variant,p.%3D,ENST00000340348,;C20orf26,synonymous_variant,p.%3D,ENST00000245957,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,intron_variant,,ENST00000442372,;	1234	71	56	SUCCESS
C20orf26	0	.	GRCh37	20	20269371	20269371	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1569246723	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	63	198	0	ENST00000245957.5:c.2915T>C	p.Ile972Thr	p.I972T	ENST00000245957	NM_015585.3	972	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS33447.1	2915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACATAGCCA	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000245957	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.14)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Ile972Thr,ENST00000245957,;C20orf26,intron_variant,,ENST00000377309,;C20orf26,non_coding_transcript_exon_variant,,ENST00000488640,;C20orf26,upstream_gene_variant,,ENST00000469994,;C20orf26,intron_variant,,ENST00000377308,;	2991	198	157	SUCCESS
STK35	140901	.	GRCh37	20	2097911	2097911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	120	0	ENST00000381482.3:c.1492A>G	p.Met498Val	p.M498V	ENST00000381482		498	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS13024.2	1492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCATGTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF59,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000370891	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000381482	Transcript	.	.	ENSG00000125834	16254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.3)	.	STK35_HUMAN	STK35	HGNC	.	.	UPI00003FCD67	SNV	STK35,missense_variant,p.Met498Val,ENST00000381482,;STK35,missense_variant,p.Met365Val,ENST00000246032,;STK35,intron_variant,,ENST00000400064,;STK35,missense_variant,p.Met359Val,ENST00000493263,;	1763	120	75	SUCCESS
NANP	140838	.	GRCh37	20	25596957	25596957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	112	0	ENST00000304788.3:c.351G>T	p.Met117Ile	p.M117I	ENST00000304788	NM_152667.2	117	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS13173.1	351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGCATGGC	NONE	.	.	hmmpanther:PTHR12725:SF4,hmmpanther:PTHR12725,Pfam_domain:PF13419,TIGRFAM_domain:TIGR02253,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01549,Superfamily_domains:SSF56784	.	.	ENSP00000302441	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304788	Transcript	.	.	ENSG00000170191	16140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.716)	.	tolerated(0.05)	.	NANP_HUMAN	NANP	HGNC	.	.	UPI0000070FB9	SNV	NANP,missense_variant,p.Met117Ile,ENST00000304788,;	578	112	83	SUCCESS
SOX12	6666	.	GRCh37	20	306791	306791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	139	0	ENST00000342665.2:c.223G>A	p.Gly75Ser	p.G75S	ENST00000342665	NM_006943.3	75	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS12995.1	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGGCCGC	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF209,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,PIRSF_domain:PIRSF038098,Superfamily_domains:SSF47095	.	.	ENSP00000347646	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342665	Transcript	.	.	ENSG00000177732	11198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	SOX12_HUMAN	SOX12	HGNC	.	.	UPI0000167B9D	SNV	SOX12,missense_variant,p.Gly75Ser,ENST00000544632,;SOX12,missense_variant,p.Gly75Ser,ENST00000342665,;RP5-1103G7.4,intron_variant,,ENST00000442637,;RP5-1103G7.4,upstream_gene_variant,,ENST00000414676,;	553	139	106	SUCCESS
TM9SF4	9777	.	GRCh37	20	30738606	30738606	+	synonymous_variant	Silent	SNP	G	G	T	rs759407023	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	47	125	0	ENST00000398022.2:c.1173G>T	p.Val391=	p.V391=	ENST00000398022	NM_014742.3	391	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS13196.2	1173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGTTTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF34,Pfam_domain:PF02990	.	.	ENSP00000381104	.	12/18	.	.	.	.	.	.	.	.	rs759407023	12/18	PASS	ENST00000398022	Transcript	.	.	ENSG00000101337	30797	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM9S4_HUMAN	TM9SF4	HGNC	B4DH88_HUMAN	.	UPI0000206163	SNV	TM9SF4,synonymous_variant,p.%3D,ENST00000398022,;TM9SF4,synonymous_variant,p.%3D,ENST00000217315,;	1408	125	102	SUCCESS
ASXL1	171023	.	GRCh37	20	31023559	31023580	+	frameshift_variant	Frame_Shift_Del	DEL	AGGCTGACACTAGAGAAGCTGC	AGGCTGACACTAGAGAAGCTGC	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	AGGCTGACACTAGAGAAGCTGC	AGGCTGACACTAGAGAAGCTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	64	0	ENST00000375687.4:c.3046_3067del	p.Ala1016Ter	p.A1016*	ENST00000375687	NM_015338.5	1015	gAGGCTGACACTAGAGAAGCTGCa/ga	0	.	.	.	.	.	-	EADTREAA/X	protein_coding	YES	CCDS13201.1	3044-3065	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGTGAGGCTGACACTAGAGAAGCTGCAGTGA	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	deletion	ASXL1,frameshift_variant,p.Ala1016Ter,ENST00000375687,;ASXL1,frameshift_variant,p.Ala1011Ter,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;	3468-3489	64	62	SUCCESS
C20orf194	0	.	GRCh37	20	3274839	3274839	+	synonymous_variant	Silent	SNP	A	A	G	rs1353317823	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	55	0	ENST00000252032.9:c.2184T>C	p.Pro728=	p.P728=	ENST00000252032	NM_001009984.2	728	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS42851.1	2184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGGAAG	NONE	.	.	.	.	.	ENSP00000252032	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000252032	Transcript	.	.	ENSG00000088854	17721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT194_HUMAN	C20orf194	HGNC	Q3KQR5_HUMAN	.	UPI0000470A8D	SNV	C20orf194,synonymous_variant,p.%3D,ENST00000252032,;C20orf194,synonymous_variant,p.%3D,ENST00000453730,;C20orf194,downstream_gene_variant,,ENST00000498079,;	2252	55	55	SUCCESS
NCOA6	23054	.	GRCh37	20	33324500	33324500	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	49	134	0	ENST00000359003.2:c.5956A>T	p.Arg1986Ter	p.R1986*	ENST00000359003	NM_014071.3	1986	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS13241.1	5956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTGGCAA	NONE	.	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,stop_gained,p.Arg1986Ter,ENST00000374796,;NCOA6,stop_gained,p.Arg1986Ter,ENST00000359003,;NCOA6,upstream_gene_variant,,ENST00000471897,;	8527	134	113	SUCCESS
MYH7B	57644	.	GRCh37	20	33563246	33563246	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	28	0	ENST00000262873.7:c.-52G>A		p.*18*	ENST00000262873	NM_020884.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42869.1	.	MUTECT|MUSE	.	CTCCTGAGCTT	NONE	.	.	.	.	.	ENSP00000262873	.	1/43	.	.	.	.	.	.	.	.	.	1/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,5_prime_UTR_variant,,ENST00000262873,;MYH7B,upstream_gene_variant,,ENST00000481922,;MYH7B,upstream_gene_variant,,ENST00000470929,;	41	28	20	SUCCESS
RBM12	10137	.	GRCh37	20	34242510	34242510	+	synonymous_variant	Silent	SNP	C	C	T	rs780857714	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	72	1	ENST00000359646.1:c.735G>A	p.Pro245=	p.P245=	ENST00000359646		245	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13261.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGCGGCAT	NONE	byFrequency	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF31,Low_complexity_(Seg):seg	.	.	ENSP00000363228	.	3/3	.	.	.	.	.	.	.	.	rs780857714,COSM1026284	3/3	PASS	ENST00000374114	Transcript	.	.	ENSG00000244462	9898	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	RBM12_HUMAN	RBM12	HGNC	Q69YJ7_HUMAN,Q5JX62_HUMAN,A6PVI1_HUMAN,A6PVI0_HUMAN	.	UPI0000073D24	SNV	RBM12,synonymous_variant,p.%3D,ENST00000374114,;RBM12,synonymous_variant,p.%3D,ENST00000424458,;RBM12,synonymous_variant,p.%3D,ENST00000359646,;RBM12,synonymous_variant,p.%3D,ENST00000374104,;CPNE1,intron_variant,,ENST00000352393,;CPNE1,intron_variant,,ENST00000414711,;CPNE1,intron_variant,,ENST00000458038,;CPNE1,intron_variant,,ENST00000397443,;CPNE1,intron_variant,,ENST00000434795,;CPNE1,intron_variant,,ENST00000397442,;CPNE1,intron_variant,,ENST00000440240,;CPNE1,intron_variant,,ENST00000412056,;CPNE1,intron_variant,,ENST00000317619,;CPNE1,intron_variant,,ENST00000430570,;CPNE1,intron_variant,,ENST00000416778,;CPNE1,intron_variant,,ENST00000435747,;CPNE1,intron_variant,,ENST00000420363,;CPNE1,intron_variant,,ENST00000439806,;CPNE1,intron_variant,,ENST00000437340,;CPNE1,intron_variant,,ENST00000397445,;CPNE1,intron_variant,,ENST00000414664,;CPNE1,intron_variant,,ENST00000397446,;CPNE1,intron_variant,,ENST00000437100,;RBM12,downstream_gene_variant,,ENST00000435161,;CPNE1,upstream_gene_variant,,ENST00000317677,;RBM12,downstream_gene_variant,,ENST00000431148,;CPNE1,downstream_gene_variant,,ENST00000475146,;CPNE1,intron_variant,,ENST00000401607,;RP1-309K20.6,intron_variant,,ENST00000541176,;RP1-309K20.6,intron_variant,,ENST00000454607,;CPNE1,intron_variant,,ENST00000439669,;CPNE1,intron_variant,,ENST00000483359,;RP1-309K20.6,intron_variant,,ENST00000441563,;	999	73	67	SUCCESS
RBL1	5933	.	GRCh37	20	35632146	35632146	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	91	203	0	ENST00000373664.3:c.2995A>T	p.Arg999Ter	p.R999*	ENST00000373664	NM_002895.3	999	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS13289.1	2995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTTGGTG	NONE	.	.	hmmpanther:PTHR13742:SF20,hmmpanther:PTHR13742,Pfam_domain:PF08934	.	.	ENSP00000362768	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,stop_gained,p.Arg999Ter,ENST00000373664,;RBL1,stop_gained,p.Arg999Ter,ENST00000344359,;	3062	203	211	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3674934	3674934	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	179	0	ENST00000344754.4:c.3190G>A	p.Val1064Ile	p.V1064I	ENST00000344754	NM_023068.3	1064	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS13060.1	3190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGACACCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.41)	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.Val1064Ile,ENST00000344754,;SIGLEC1,missense_variant,p.Val1064Ile,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	3190	179	111	SUCCESS
SMOX	54498	.	GRCh37	20	4155893	4155893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	34	99	0	ENST00000305958.4:c.191T>C	p.Val64Ala	p.V64A	ENST00000305958	NM_175839.2	64	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13075.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGTGCAGA	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF44,Pfam_domain:PF01593,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000307252	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000305958	Transcript	.	.	ENSG00000088826	15862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SMOX_HUMAN	SMOX	HGNC	.	.	UPI000006CE86	SNV	SMOX,missense_variant,p.Val64Ala,ENST00000305958,;SMOX,missense_variant,p.Val64Ala,ENST00000339123,;SMOX,missense_variant,p.Val64Ala,ENST00000346595,;SMOX,missense_variant,p.Val64Ala,ENST00000278795,;SMOX,missense_variant,p.Val64Ala,ENST00000379460,;SMOX,upstream_gene_variant,,ENST00000457205,;SMOX,non_coding_transcript_exon_variant,,ENST00000484515,;SMOX,downstream_gene_variant,,ENST00000493223,;SMOX,downstream_gene_variant,,ENST00000602910,;	416	99	88	SUCCESS
WFDC3	140686	.	GRCh37	20	44405762	44405762	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	58	174	0	ENST00000243938.4:c.445T>A	p.Cys149Ser	p.C149S	ENST00000243938	NM_080614.1	149	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS33478.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCATTTAT	NONE	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256	.	.	ENSP00000243938	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,missense_variant,p.Cys149Ser,ENST00000243938,;WFDC3,missense_variant,p.Cys143Ser,ENST00000337205,;WFDC3,intron_variant,,ENST00000372632,;WFDC3,intron_variant,,ENST00000372630,;RNU6ATAC38P,upstream_gene_variant,,ENST00000408119,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000467679,;WFDC3,non_coding_transcript_exon_variant,,ENST00000490877,;WFDC3,intron_variant,,ENST00000471401,;WFDC3,intron_variant,,ENST00000474942,;WFDC3,intron_variant,,ENST00000493693,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,intron_variant,,ENST00000462017,;	529	174	139	SUCCESS
WFDC3	140686	.	GRCh37	20	44418554	44418554	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	105	0	ENST00000243938.4:c.61T>A	p.Trp21Arg	p.W21R	ENST00000243938	NM_080614.1	21	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS33478.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCAGGATT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28	.	.	ENSP00000243938	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.23)	.	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,missense_variant,p.Trp21Arg,ENST00000243938,;WFDC3,missense_variant,p.Trp21Arg,ENST00000372630,;WFDC3,missense_variant,p.Trp21Arg,ENST00000372632,;WFDC3,missense_variant,p.Trp15Arg,ENST00000337205,;DNTTIP1,upstream_gene_variant,,ENST00000372622,;DNTTIP1,upstream_gene_variant,,ENST00000415790,;DNTTIP1,upstream_gene_variant,,ENST00000456939,;DNTTIP1,upstream_gene_variant,,ENST00000449078,;DNTTIP1,upstream_gene_variant,,ENST00000435014,;WFDC3,intron_variant,,ENST00000493693,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,intron_variant,,ENST00000462017,;WFDC3,intron_variant,,ENST00000471401,;WFDC3,intron_variant,,ENST00000487343,;WFDC3,intron_variant,,ENST00000467679,;WFDC3,intron_variant,,ENST00000490877,;WFDC3,intron_variant,,ENST00000465935,;	145	105	62	SUCCESS
ZNF334	55713	.	GRCh37	20	45130946	45130946	+	synonymous_variant	Silent	SNP	T	T	A	rs761507470	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	101	0	ENST00000347606.4:c.1032A>T	p.Thr344=	p.T344=	ENST00000347606	NM_018102.4	344	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33480.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGTGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000255129	.	5/5	.	.	.	.	.	.	.	.	rs761507470	5/5	PASS	ENST00000347606	Transcript	.	.	ENSG00000198185	15806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN334_HUMAN	ZNF334	HGNC	M0R3E1_HUMAN	.	UPI000004A0FE	SNV	ZNF334,synonymous_variant,p.%3D,ENST00000593880,;ZNF334,synonymous_variant,p.%3D,ENST00000347606,;ZNF334,synonymous_variant,p.%3D,ENST00000457685,;ZNF334,downstream_gene_variant,,ENST00000596323,;	1215	101	90	SUCCESS
SLC23A2	9962	.	GRCh37	20	4837746	4837746	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1242736840	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	37	111	1	ENST00000338244.1:c.1825A>G	p.Ile609Val	p.I609V	ENST00000338244	NM_005116.5	609	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13085.1	1825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATGTTCA	NONE	.	.	hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF33	.	.	ENSP00000368637	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000379333	Transcript	.	.	ENSG00000089057	10973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.61)	.	S23A2_HUMAN	SLC23A2	HGNC	Q4ZGM1_HUMAN	.	UPI0000136292	SNV	SLC23A2,missense_variant,p.Ile609Val,ENST00000379333,;SLC23A2,missense_variant,p.Ile495Val,ENST00000424750,;SLC23A2,missense_variant,p.Ile609Val,ENST00000338244,;SLC23A2,downstream_gene_variant,,ENST00000423430,;	2218	113	73	SUCCESS
PHACTR3	116154	.	GRCh37	20	58180075	58180075	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	21	0	ENST00000371015.1:c.6C>G	p.Ala2=	p.A2=	ENST00000371015	NM_080672.4	2	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS13480.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCGCGTC	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,synonymous_variant,p.%3D,ENST00000434923,;PHACTR3,synonymous_variant,p.%3D,ENST00000371015,;PHACTR3,5_prime_UTR_variant,,ENST00000395639,;PHACTR3,intron_variant,,ENST00000359926,;	473	21	15	SUCCESS
PSMA7	5688	.	GRCh37	20	60718284	60718284	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	11	8	0	ENST00000370873.4:c.76G>C	p.Val26Leu	p.V26L	ENST00000370873	NM_002792.3	26	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS13489.1	76	MUTECT|MUSE	.	CTTGACGGCCT	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF40,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	.	ENSP00000359910	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000370873	Transcript	.	.	ENSG00000101182	9536	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.618)	.	deleterious(0.01)	.	PSA7_HUMAN	PSMA7	HGNC	.	.	UPI00000354E4	SNV	PSMA7,missense_variant,p.Val26Leu,ENST00000370858,;PSMA7,missense_variant,p.Val26Leu,ENST00000370873,;SS18L1,upstream_gene_variant,,ENST00000421564,;SS18L1,upstream_gene_variant,,ENST00000450482,;PSMA7,upstream_gene_variant,,ENST00000442551,;SS18L1,upstream_gene_variant,,ENST00000331758,;PSMA7,upstream_gene_variant,,ENST00000370861,;PSMA7,non_coding_transcript_exon_variant,,ENST00000484488,;PSMA7,upstream_gene_variant,,ENST00000486193,;	203	8	15	SUCCESS
PSMA7	5688	.	GRCh37	20	60718296	60718296	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	10	0	ENST00000370873.4:c.64G>T	p.Ala22Ser	p.A22S	ENST00000370873	NM_002792.3	22	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13489.1	64	RADIA|MUTECT	.	CTGCGCGTACT	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF40,PROSITE_patterns:PS00388,Gene3D:3.60.20.10,Pfam_domain:PF10584,SMART_domains:SM00948,Superfamily_domains:SSF56235	.	.	ENSP00000359910	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000370873	Transcript	.	.	ENSG00000101182	9536	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	PSA7_HUMAN	PSMA7	HGNC	.	.	UPI00000354E4	SNV	PSMA7,missense_variant,p.Ala22Ser,ENST00000370858,;PSMA7,missense_variant,p.Ala22Ser,ENST00000370873,;SS18L1,upstream_gene_variant,,ENST00000421564,;SS18L1,upstream_gene_variant,,ENST00000450482,;PSMA7,upstream_gene_variant,,ENST00000442551,;SS18L1,upstream_gene_variant,,ENST00000331758,;PSMA7,upstream_gene_variant,,ENST00000370861,;PSMA7,non_coding_transcript_exon_variant,,ENST00000484488,;PSMA7,upstream_gene_variant,,ENST00000486193,;	191	10	14	SUCCESS
COL20A1	57642	.	GRCh37	20	61947981	61947981	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	69	0	ENST00000358894.6:c.2601T>C	p.Ser867=	p.S867=	ENST00000358894	NM_020882.2	867	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS46628.1	2601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGCCTT	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00210	.	.	ENSP00000351767	.	21/36	.	.	.	.	.	.	.	.	.	21/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,synonymous_variant,p.%3D,ENST00000358894,;COL20A1,synonymous_variant,p.%3D,ENST00000422202,;COL20A1,synonymous_variant,p.%3D,ENST00000326996,;COL20A1,synonymous_variant,p.%3D,ENST00000435874,;COL20A1,upstream_gene_variant,,ENST00000415763,;COL20A1,upstream_gene_variant,,ENST00000455906,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	2701	69	35	SUCCESS
HELZ2	85441	.	GRCh37	20	62203527	62203527	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	72	0	ENST00000467148.1:c.212A>T	p.Asp71Val	p.D71V	ENST00000467148	NM_001037335.2	71	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS33508.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTCGAAG	NONE	.	.	.	.	.	ENSP00000417401	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,missense_variant,p.Asp71Val,ENST00000467148,;HELZ2,upstream_gene_variant,,ENST00000427522,;HELZ2,non_coding_transcript_exon_variant,,ENST00000479540,;HELZ2,upstream_gene_variant,,ENST00000454223,;HELZ2,non_coding_transcript_exon_variant,,ENST00000370082,;	282	72	77	SUCCESS
ZGPAT	84619	.	GRCh37	20	62366141	62366141	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779980060	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	80	0	ENST00000328969.5:c.1016G>T	p.Arg339Ile	p.R339I	ENST00000328969	NM_032527.4	339	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS13534.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGACTCC	NONE	.	.	PROSITE_profiles:PS50174,hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF8,Pfam_domain:PF01585,SMART_domains:SM00443	.	.	ENSP00000332013	.	5/7	.	.	.	.	.	.	.	.	rs779980060,COSM3963800	5/7	PASS	ENST00000328969	Transcript	.	.	ENSG00000197114	15948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.866)	.	deleterious(0)	0,1	ZGPAT_HUMAN	ZGPAT	HGNC	.	.	UPI000013EEDB	SNV	ZGPAT,missense_variant,p.Arg319Ile,ENST00000448100,;ZGPAT,missense_variant,p.Arg339Ile,ENST00000328969,;ZGPAT,missense_variant,p.Arg310Ile,ENST00000357119,;ZGPAT,missense_variant,p.Arg319Ile,ENST00000355969,;ZGPAT,missense_variant,p.Arg319Ile,ENST00000369967,;RP4-583P15.14,upstream_gene_variant,,ENST00000467211,;LIME1,upstream_gene_variant,,ENST00000493265,;LIME1,upstream_gene_variant,,ENST00000309546,;LIME1,upstream_gene_variant,,ENST00000444951,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000478385,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000472711,;LIME1,upstream_gene_variant,,ENST00000490824,;LIME1,upstream_gene_variant,,ENST00000476183,;LIME1,upstream_gene_variant,,ENST00000496820,;LIME1,upstream_gene_variant,,ENST00000465591,;RP4-583P15.14,upstream_gene_variant,,ENST00000476221,;LIME1,upstream_gene_variant,,ENST00000487026,;LIME1,upstream_gene_variant,,ENST00000489212,;LIME1,upstream_gene_variant,,ENST00000494776,;LIME1,upstream_gene_variant,,ENST00000480139,;ZGPAT,downstream_gene_variant,,ENST00000468235,;RP4-583P15.15,missense_variant,p.Arg225Ile,ENST00000490623,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000477340,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000484569,;	1143	80	86	SUCCESS
MYT1	4661	.	GRCh37	20	62844964	62844964	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	29	60	1	ENST00000328439.1:c.1595C>A	p.Pro532His	p.P532H	ENST00000328439	NM_004535.2	532	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS13558.1	1595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCCTTCCA	NONE	.	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	.	.	ENSP00000327465	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,missense_variant,p.Pro532His,ENST00000536311,;MYT1,missense_variant,p.Pro234His,ENST00000360149,;MYT1,missense_variant,p.Pro532His,ENST00000328439,;	1959	61	52	SUCCESS
PLCB4	5332	.	GRCh37	20	9288511	9288511	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	46	73	0	ENST00000278655.4:c.50T>G	p.Leu17Trp	p.L17W	ENST00000278655	NM_182797.2	17	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS13104.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTGCAAG	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:2.30.29.30,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729	.	.	ENSP00000367762	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	deleterious(0)	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Leu17Trp,ENST00000334005,;PLCB4,missense_variant,p.Leu17Trp,ENST00000414679,;PLCB4,missense_variant,p.Leu17Trp,ENST00000416836,;PLCB4,missense_variant,p.Leu17Trp,ENST00000407043,;PLCB4,missense_variant,p.Leu17Trp,ENST00000278655,;PLCB4,missense_variant,p.Leu17Trp,ENST00000378473,;PLCB4,missense_variant,p.Leu17Trp,ENST00000378493,;PLCB4,missense_variant,p.Leu17Trp,ENST00000441846,;PLCB4,missense_variant,p.Leu17Trp,ENST00000437503,;PLCB4,missense_variant,p.Leu17Trp,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;	65	73	72	SUCCESS
PLCB4	5332	.	GRCh37	20	9352961	9352961	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	73	171	0	ENST00000278655.4:c.597T>A	p.Ile199=	p.I199=	ENST00000278655	NM_182797.2	199	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS13104.1	597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTGAGCC	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF47473	.	.	ENSP00000367762	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,synonymous_variant,p.%3D,ENST00000334005,;PLCB4,synonymous_variant,p.%3D,ENST00000414679,;PLCB4,synonymous_variant,p.%3D,ENST00000278655,;PLCB4,synonymous_variant,p.%3D,ENST00000378473,;PLCB4,synonymous_variant,p.%3D,ENST00000378493,;PLCB4,synonymous_variant,p.%3D,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	612	171	152	SUCCESS
PAK7	0	.	GRCh37	20	9525119	9525119	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	155	0	ENST00000353224.5:c.1766T>C	p.Phe589Ser	p.F589S	ENST00000353224	NM_177990.2	589	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS13107.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGAAACCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000367686	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Phe589Ser,ENST00000378423,;PAK7,missense_variant,p.Phe589Ser,ENST00000378429,;PAK7,missense_variant,p.Phe589Ser,ENST00000353224,;	2313	155	131	SUCCESS
LIPI	149998	.	GRCh37	21	15516949	15516949	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	77	215	1	ENST00000344577.2:c.1353A>G	p.Pro451=	p.P451=	ENST00000344577	NM_198996.2	451	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13564.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTGGGTA	NONE	.	.	hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865	.	.	ENSP00000343331	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,synonymous_variant,p.%3D,ENST00000536861,;LIPI,synonymous_variant,p.%3D,ENST00000344577,;AP001347.6,downstream_gene_variant,,ENST00000432621,;AP001347.6,downstream_gene_variant,,ENST00000428809,;ERLEC1P1,downstream_gene_variant,,ENST00000433806,;	1379	216	220	SUCCESS
HSPA13	6782	.	GRCh37	21	15746215	15746215	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	67	139	0	ENST00000285667.3:c.1139A>C	p.Lys380Thr	p.K380T	ENST00000285667	NM_006948.4	380	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS13567.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTTTCTGA	NONE	.	.	hmmpanther:PTHR19375:SF169,hmmpanther:PTHR19375,Gene3D:3.90.640.10,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000285667	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000285667	Transcript	.	.	ENSG00000155304	11375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HSP13_HUMAN	HSPA13	HGNC	F5GWS8_HUMAN	.	UPI00001360C2	SNV	HSPA13,missense_variant,p.Lys380Thr,ENST00000285667,;HSPA13,missense_variant,p.Lys172Thr,ENST00000544452,;HSPA13,downstream_gene_variant,,ENST00000478035,;	1207	139	141	SUCCESS
CCT8	10694	.	GRCh37	21	30437364	30437364	+	synonymous_variant	Silent	SNP	A	A	C	rs143385323	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	35	84	0	ENST00000286788.4:c.687T>G	p.Gly229=	p.G229=	ENST00000286788	NM_006585.2	229	ggT/ggG	0	G:0.0002	G:0	.	G:0	.	C	G	protein_coding	YES	CCDS33528.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCACCTTC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52029,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02346,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF60	G:0	G:0.0006	ENSP00000286788	G:0.001	7/15	.	.	.	.	.	.	.	.	rs143385323	7/15	PASS	ENST00000286788	Transcript	.	G:0.0002	ENSG00000156261	1623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TCPQ_HUMAN	CCT8	HGNC	Q7Z759_HUMAN	.	UPI0000136B0D	SNV	CCT8,synonymous_variant,p.%3D,ENST00000286788,;CCT8,synonymous_variant,p.%3D,ENST00000542732,;CCT8,synonymous_variant,p.%3D,ENST00000540844,;CCT8,intron_variant,,ENST00000431234,;CCT8,upstream_gene_variant,,ENST00000432178,;AF129075.5,upstream_gene_variant,,ENST00000457162,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;CCT8,upstream_gene_variant,,ENST00000480359,;CCT8,downstream_gene_variant,,ENST00000494296,;CCT8,downstream_gene_variant,,ENST00000481059,;CCT8,upstream_gene_variant,,ENST00000475205,;CCT8,upstream_gene_variant,,ENST00000496121,;CCT8,downstream_gene_variant,,ENST00000484403,;	894	84	68	SUCCESS
IFNAR1	3454	.	GRCh37	21	34715660	34715660	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs753923384	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	91	0	ENST00000270139.3:c.463A>T	p.Met155Leu	p.M155L	ENST00000270139	NM_000629.2	155	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS13624.1	463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTATGTGG	NONE	byFrequency	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF016567,Pfam_domain:PF09294,Gene3D:2.60.40.10,PROSITE_profiles:PS50853	.	.	ENSP00000270139	.	4/11	.	.	.	.	.	.	.	.	rs753923384	4/11	PASS	ENST00000270139	Transcript	.	.	ENSG00000142166	5432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	tolerated(0.07)	.	INAR1_HUMAN	IFNAR1	HGNC	B4DNT3_HUMAN	.	UPI000006FE3C	SNV	IFNAR1,missense_variant,p.Met155Leu,ENST00000442357,;IFNAR1,missense_variant,p.Met155Leu,ENST00000270139,;IFNAR1,missense_variant,p.Met86Leu,ENST00000416947,;IFNAR1,intron_variant,,ENST00000442071,;	615	91	104	SUCCESS
MX2	4600	.	GRCh37	21	42762601	42762601	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs779670834	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	101	1	ENST00000330714.3:c.842A>T	p.Glu281Val	p.E281V	ENST00000330714	NM_002463.1	281	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13672.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGAGGTGG	NONE	.	.	Prints_domain:PR00195,Superfamily_domains:SSF52540,SMART_domains:SM00053,Pfam_domain:PF00350,Gene3D:3.40.50.300,hmmpanther:PTHR11566:SF46,hmmpanther:PTHR11566,PROSITE_profiles:PS51718	.	.	ENSP00000333657	.	6/14	.	.	.	.	.	.	.	.	rs779670834	6/14	PASS	ENST00000330714	Transcript	.	.	ENSG00000183486	7533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MX2_HUMAN	MX2	HGNC	Q75MY8_HUMAN,Q75MY7_HUMAN,C9JZQ9_HUMAN,C9JS04_HUMAN,C9JEL4_HUMAN	.	UPI0000001C2D	SNV	MX2,missense_variant,p.Glu281Val,ENST00000330714,;MX2,intron_variant,,ENST00000543692,;MX2,non_coding_transcript_exon_variant,,ENST00000496774,;MX2,non_coding_transcript_exon_variant,,ENST00000482953,;	1026	103	73	SUCCESS
UMODL1	89766	.	GRCh37	21	43496123	43496123	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	123	0	ENST00000408910.2:c.86T>A	p.Leu29His	p.L29H	ENST00000408910	NM_001004416.2	29	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS42935.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTCTCCC	NONE	.	.	.	.	.	ENSP00000386126	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Leu29His,ENST00000408910,;UMODL1,missense_variant,p.Leu29His,ENST00000408989,;UMODL1,5_prime_UTR_variant,,ENST00000400424,;UMODL1,5_prime_UTR_variant,,ENST00000400427,;	86	123	86	SUCCESS
PCBP3	54039	.	GRCh37	21	47320533	47320533	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	58	280	0	ENST00000400314.1:c.218A>G	p.Glu73Gly	p.E73G	ENST00000400314		73	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS42974.2	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGAGGAGG	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Gene3D:3.30.1370.10,Pfam_domain:PF00013,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF98,PROSITE_profiles:PS50084	.	.	ENSP00000383168	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000400314	Transcript	.	.	ENSG00000183570	8651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	deleterious(0.02)	.	PCBP3_HUMAN	PCBP3	HGNC	.	.	UPI00005989D5	SNV	PCBP3,missense_variant,p.Glu73Gly,ENST00000400310,;PCBP3,missense_variant,p.Glu73Gly,ENST00000400314,;PCBP3,missense_variant,p.Glu49Gly,ENST00000400305,;PCBP3,missense_variant,p.Glu73Gly,ENST00000449640,;PCBP3,missense_variant,p.Glu73Gly,ENST00000400309,;PCBP3,missense_variant,p.Glu41Gly,ENST00000400304,;PCBP3,missense_variant,p.Glu73Gly,ENST00000400308,;PCBP3,downstream_gene_variant,,ENST00000549265,;PCBP3,upstream_gene_variant,,ENST00000468429,;PCBP3,non_coding_transcript_exon_variant,,ENST00000498121,;	556	280	201	SUCCESS
ARVCF	421	.	GRCh37	22	19969151	19969151	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs914740422	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	41	0	ENST00000263207.3:c.479A>G	p.Asp160Gly	p.D160G	ENST00000263207	NM_001670.2	160	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS13771.1	479	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATCTGCA	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF5	.	.	ENSP00000263207	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000263207	Transcript	.	.	ENSG00000099889	728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.18)	.	ARVC_HUMAN	ARVCF	HGNC	.	.	UPI00001260C8	SNV	ARVCF,missense_variant,p.Asp160Gly,ENST00000263207,;ARVCF,missense_variant,p.Asp97Gly,ENST00000406522,;ARVCF,missense_variant,p.Asp97Gly,ENST00000344269,;ARVCF,missense_variant,p.Asp160Gly,ENST00000406259,;ARVCF,missense_variant,p.Asp97Gly,ENST00000401994,;ARVCF,non_coding_transcript_exon_variant,,ENST00000487793,;ARVCF,non_coding_transcript_exon_variant,,ENST00000462319,;ARVCF,non_coding_transcript_exon_variant,,ENST00000492625,;ARVCF,downstream_gene_variant,,ENST00000467828,;ARVCF,non_coding_transcript_exon_variant,,ENST00000473551,;ARVCF,upstream_gene_variant,,ENST00000495096,;	771	41	36	SUCCESS
IGLV3-19	28797	.	GRCh37	22	23063372	23063372	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	60	154	1	ENST00000390309.2:c.79C>G	p.Pro27Ala	p.P27A	ENST00000390309		27	Cct/Gct	0	.	.	.	.	.	G	P/A	IG_V_gene	YES	.	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCCTGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000374844	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390309	Transcript	.	.	ENSG00000211663	5903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.584)	.	tolerated(0.07)	.	.	IGLV3-19	HGNC	.	.	UPI000173A2CD	SNV	IGLV3-19,missense_variant,p.Pro27Ala,ENST00000390309,;	119	155	144	SUCCESS
SEZ6L	23544	.	GRCh37	22	26702074	26702074	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	67	1	ENST00000248933.6:c.1478T>C	p.Leu493Pro	p.L493P	ENST00000248933		493	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS13833.1	1478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGCACT	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS01180	.	.	ENSP00000248933	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Leu493Pro,ENST00000529632,;SEZ6L,missense_variant,p.Leu493Pro,ENST00000248933,;SEZ6L,missense_variant,p.Leu493Pro,ENST00000360929,;SEZ6L,missense_variant,p.Leu493Pro,ENST00000343706,;SEZ6L,missense_variant,p.Leu266Pro,ENST00000402979,;SEZ6L,missense_variant,p.Leu266Pro,ENST00000403121,;SEZ6L,missense_variant,p.Leu493Pro,ENST00000404234,;	1573	68	86	SUCCESS
HPS4	89781	.	GRCh37	22	26860234	26860234	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	74	0	ENST00000336873.5:c.1362C>G	p.Pro454=	p.P454=	ENST00000336873		454	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13835.1	1362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGGGGGC	NONE	.	.	hmmpanther:PTHR14407:SF9,hmmpanther:PTHR14407	.	.	ENSP00000381213	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000398145	Transcript	.	.	ENSG00000100099	15844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPS4_HUMAN	HPS4	HGNC	.	.	UPI000012CB6F	SNV	HPS4,synonymous_variant,p.%3D,ENST00000422379,;HPS4,synonymous_variant,p.%3D,ENST00000336873,;HPS4,synonymous_variant,p.%3D,ENST00000398141,;HPS4,synonymous_variant,p.%3D,ENST00000402105,;HPS4,synonymous_variant,p.%3D,ENST00000398145,;HPS4,upstream_gene_variant,,ENST00000493455,;HPS4,upstream_gene_variant,,ENST00000519774,;HPS4,downstream_gene_variant,,ENST00000459918,;HPS4,3_prime_UTR_variant,,ENST00000439453,;HPS4,3_prime_UTR_variant,,ENST00000429411,;HPS4,3_prime_UTR_variant,,ENST00000464362,;HPS4,non_coding_transcript_exon_variant,,ENST00000496385,;HPS4,non_coding_transcript_exon_variant,,ENST00000466781,;HPS4,intron_variant,,ENST00000485842,;	1979	74	46	SUCCESS
INPP5J	27124	.	GRCh37	22	31521205	31521205	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	100	0	ENST00000331075.5:c.480C>T	p.Ala160=	p.A160=	ENST00000331075	NM_001284285.1	160	gcC/gcT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46687.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCCAAC	NONE	.	.	.	.	.	ENSP00000384534	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404390	Transcript	.	.	ENSG00000185133	8956	.	.	MODIFIER	2/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI5PA_HUMAN	INPP5J	HGNC	C9J0H5_HUMAN,B5MBZ3_HUMAN	.	UPI00003FF78A	SNV	INPP5J,synonymous_variant,p.%3D,ENST00000412277,;INPP5J,synonymous_variant,p.%3D,ENST00000412985,;INPP5J,synonymous_variant,p.%3D,ENST00000331075,;INPP5J,intron_variant,,ENST00000420017,;INPP5J,intron_variant,,ENST00000405300,;INPP5J,intron_variant,,ENST00000404390,;INPP5J,intron_variant,,ENST00000400294,;INPP5J,upstream_gene_variant,,ENST00000401755,;INPP5J,upstream_gene_variant,,ENST00000404453,;INPP5J,upstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,intron_variant,,ENST00000461241,;	.	100	67	SUCCESS
PLA2G3	50487	.	GRCh37	22	31533830	31533830	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs866948115	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	131	0	ENST00000215885.3:c.932G>T	p.Gly311Val	p.G311V	ENST00000215885	NM_015715.3	311	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13889.1	932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCCCTTC	NONE	.	.	hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253	.	.	ENSP00000215885	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.52)	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,missense_variant,p.Gly311Val,ENST00000215885,;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000412277,;INPP5J,downstream_gene_variant,,ENST00000405300,;INPP5J,downstream_gene_variant,,ENST00000404390,;INPP5J,downstream_gene_variant,,ENST00000331075,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000461241,;	1185	131	81	SUCCESS
SLC5A1	6523	.	GRCh37	22	32495287	32495287	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	118	1	ENST00000266088.4:c.1398C>A	p.Pro466=	p.P466=	ENST00000266088	NM_000343.3	466	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13902.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCATTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266088	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000266088	Transcript	.	.	ENSG00000100170	11036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC5A1_HUMAN	SLC5A1	HGNC	A4QPH0_HUMAN	.	UPI00001359EA	SNV	SLC5A1,synonymous_variant,p.%3D,ENST00000543737,;SLC5A1,synonymous_variant,p.%3D,ENST00000266088,;SLC5A1,non_coding_transcript_exon_variant,,ENST00000477969,;	1648	119	67	SUCCESS
RFPL2	10739	.	GRCh37	22	32586882	32586882	+	synonymous_variant	Silent	SNP	C	C	T	rs1458326712	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	108	235	0	ENST00000248983.4:c.744G>A	p.Glu248=	p.E248=	ENST00000248983	NM_001159545.1	248	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43009.2	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCTCCTC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000383096	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000400237	Transcript	.	.	ENSG00000128253	9979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFPL2_HUMAN	RFPL2	HGNC	.	.	UPI000013CC66	SNV	RFPL2,synonymous_variant,p.%3D,ENST00000400237,;RFPL2,synonymous_variant,p.%3D,ENST00000248983,;RFPL2,synonymous_variant,p.%3D,ENST00000248980,;RFPL2,synonymous_variant,p.%3D,ENST00000400236,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	1950	235	247	SUCCESS
MICALL1	85377	.	GRCh37	22	38321666	38321666	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs774299265	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	121	0	ENST00000215957.6:c.1083-2A>T		p.X361_splice	ENST00000215957	NM_033386.3	361		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13961.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGGACA	NONE	.	.	.	.	.	ENSP00000215957	.	.	.	.	.	.	.	.	.	.	rs774299265	.	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	HIGH	7/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,splice_acceptor_variant,,ENST00000215957,;MICALL1,upstream_gene_variant,,ENST00000454685,;MICALL1,downstream_gene_variant,,ENST00000445494,;MICALL1,upstream_gene_variant,,ENST00000402631,;MICALL1,downstream_gene_variant,,ENST00000489812,;	.	122	92	SUCCESS
ENTHD1	150350	.	GRCh37	22	40257983	40257983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	75	199	0	ENST00000325157.6:c.379G>T	p.Val127Phe	p.V127F	ENST00000325157	NM_152512.3	127	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS13998.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACTTGCT	NONE	.	.	PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51,Pfam_domain:PF01417,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464	.	.	ENSP00000317431	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000325157	Transcript	.	.	ENSG00000176177	26352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ENTD1_HUMAN	ENTHD1	HGNC	.	.	UPI00000741D2	SNV	ENTHD1,missense_variant,p.Val127Phe,ENST00000325157,;	630	199	185	SUCCESS
TNRC6B	23112	.	GRCh37	22	40708962	40708962	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	101	0	ENST00000454349.2:c.4639G>T	p.Ala1547Ser	p.A1547S	ENST00000454349	NM_001162501.1	1547	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS54533.1	4639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGCCTCT	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32	.	.	ENSP00000401946	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000454349	Transcript	.	.	ENSG00000100354	29190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.31)	.	TNR6B_HUMAN	TNRC6B	HGNC	.	.	UPI00017A6F19	SNV	TNRC6B,missense_variant,p.Ala1547Ser,ENST00000454349,;TNRC6B,missense_variant,p.Ala1233Ser,ENST00000446273,;TNRC6B,missense_variant,p.Ala743Ser,ENST00000402203,;TNRC6B,missense_variant,p.Ala743Ser,ENST00000301923,;TNRC6B,missense_variant,p.Ala1437Ser,ENST00000335727,;	4850	101	99	SUCCESS
FBLN1	2192	.	GRCh37	22	45970507	45970507	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	75	0	ENST00000327858.6:c.1814C>T	p.Thr605Ile	p.T605I	ENST00000327858	NM_006486.2	605	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS14067.1	1814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTACCTTCC	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PIRSF_domain:PIRSF036313	.	.	ENSP00000331544	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0.03)	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Thr605Ile,ENST00000327858,;FBLN1,intron_variant,,ENST00000348697,;FBLN1,upstream_gene_variant,,ENST00000460300,;	1909	75	54	SUCCESS
GTSE1	51512	.	GRCh37	22	46719148	46719148	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	74	0	ENST00000454366.1:c.1494G>T	p.Thr498=	p.T498=	ENST00000454366	NM_016426.6	498	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS14074.2	1494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGTCAGT	NONE	.	.	hmmpanther:PTHR21584:SF8,hmmpanther:PTHR21584	.	.	ENSP00000415430	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000454366	Transcript	.	.	ENSG00000075218	13698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTSE1_HUMAN	GTSE1	HGNC	.	.	UPI000021D19B	SNV	GTSE1,synonymous_variant,p.%3D,ENST00000454366,;GTSE1,non_coding_transcript_exon_variant,,ENST00000479645,;GTSE1,non_coding_transcript_exon_variant,,ENST00000466510,;	1706	74	53	SUCCESS
MOV10L1	54456	.	GRCh37	22	50580530	50580530	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	33	80	0	ENST00000262794.5:c.2091C>T	p.Asp697=	p.D697=	ENST00000262794	NM_018995.2	697	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS14084.1	2091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGACCAAGC	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF321	.	.	ENSP00000262794	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000262794	Transcript	.	.	ENSG00000073146	7201	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M10L1_HUMAN	MOV10L1	HGNC	.	.	UPI00000421FB	SNV	MOV10L1,synonymous_variant,p.%3D,ENST00000540615,;MOV10L1,synonymous_variant,p.%3D,ENST00000545383,;MOV10L1,synonymous_variant,p.%3D,ENST00000262794,;MOV10L1,synonymous_variant,p.%3D,ENST00000395858,;MOV10L1,5_prime_UTR_variant,,ENST00000395843,;MOV10L1,upstream_gene_variant,,ENST00000395852,;MOV10L1,3_prime_UTR_variant,,ENST00000434497,;	2174	80	70	SUCCESS
ACR	49	.	GRCh37	22	51178223	51178223	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	54	144	0	ENST00000216139.5:c.383T>C	p.Ile128Thr	p.I128T	ENST00000216139	NM_001097.2	128	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS14101.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATCATCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24252,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001141,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216139	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000216139	Transcript	.	.	ENSG00000100312	126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ACRO_HUMAN	ACR	HGNC	.	.	UPI00001AE5ED	SNV	ACR,missense_variant,p.Ile128Thr,ENST00000529621,;ACR,missense_variant,p.Ile128Thr,ENST00000216139,;AC002056.5,downstream_gene_variant,,ENST00000532913,;AC000036.4,upstream_gene_variant,,ENST00000449652,;ACR,upstream_gene_variant,,ENST00000527761,;ACR,non_coding_transcript_exon_variant,,ENST00000533930,;	423	144	118	SUCCESS
IL18RAP	8807	.	GRCh37	2	103040730	103040730	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs138125296	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	74	151	0	ENST00000264260.2:c.435A>T	p.Leu145Phe	p.L145F	ENST00000264260	NM_003853.2	145	ttA/ttT	0	G:0.0007	G:0.0008	.	G:0	.	T	L/F	protein_coding	YES	CCDS2061.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTAGAAGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4	G:0	G:0	ENSP00000264260	G:0	5/12	.	.	.	.	.	.	.	.	rs138125296	5/12	PASS	ENST00000264260	Transcript	.	G:0.0002	ENSG00000115607	5989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	G:0	deleterious(0.02)	.	I18RA_HUMAN	IL18RAP	HGNC	Q3KPE8_HUMAN,C9JLE2_HUMAN	.	UPI0000071CAF	SNV	IL18RAP,missense_variant,p.Leu3Phe,ENST00000409369,;IL18RAP,missense_variant,p.Leu145Phe,ENST00000264260,;IL18RAP,downstream_gene_variant,,ENST00000450855,;IL18RAP,downstream_gene_variant,,ENST00000497795,;	1024	151	165	SUCCESS
GPR45	11250	.	GRCh37	2	105858393	105858393	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	47	119	0	ENST00000258456.1:c.78C>A	p.Ser26=	p.S26=	ENST00000258456	NM_007227.3	26	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2066.1	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCACCCA	NONE	.	.	hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000258456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000258456	Transcript	.	.	ENSG00000135973	4503	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR45_HUMAN	GPR45	HGNC	B5B0C1_HUMAN	.	UPI000013CFD3	SNV	GPR45,synonymous_variant,p.%3D,ENST00000258456,;	194	119	114	SUCCESS
ACOXL	55289	.	GRCh37	2	111556610	111556610	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	55	109	0	ENST00000389811.4:c.480T>A	p.Val160=	p.V160=	ENST00000389811		160	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46389.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGTTCCTGT	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF187,Gene3D:2.40.110.10,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF56645	.	.	ENSP00000407761	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000439055	Transcript	.	.	ENSG00000153093	25621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOXL_HUMAN	ACOXL	HGNC	C9JQI3_HUMAN	.	UPI0001884BE2	SNV	ACOXL,synonymous_variant,p.%3D,ENST00000389811,;ACOXL,synonymous_variant,p.%3D,ENST00000340561,;ACOXL,synonymous_variant,p.%3D,ENST00000439055,;ACOXL,upstream_gene_variant,,ENST00000417074,;ACOXL,downstream_gene_variant,,ENST00000461340,;	704	109	110	SUCCESS
C2orf50	130813	.	GRCh37	2	11273391	11273391	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	19	0	ENST00000381585.3:c.-70C>A		p.*24*	ENST00000381585				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1678.1	.	MUTECT|MUSE	.	TTGAGCTGAGC	NONE	.	.	.	.	.	ENSP00000370997	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381585	Transcript	.	.	ENSG00000150873	26324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CB050_HUMAN	C2orf50	HGNC	.	.	UPI000006ECF0	SNV	C2orf50,5_prime_UTR_variant,,ENST00000381585,;C2orf50,5_prime_UTR_variant,,ENST00000405022,;AC062028.1,upstream_gene_variant,,ENST00000590207,;AC062028.1,upstream_gene_variant,,ENST00000417697,;AC062028.1,upstream_gene_variant,,ENST00000447433,;AC062028.1,upstream_gene_variant,,ENST00000544306,;AC062028.1,upstream_gene_variant,,ENST00000590373,;AC062028.1,upstream_gene_variant,,ENST00000396164,;AC062028.1,upstream_gene_variant,,ENST00000536743,;	213	19	25	SUCCESS
DPP10	57628	.	GRCh37	2	116593732	116593732	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	112	0	ENST00000410059.1:c.1951-1G>T		p.X651_splice	ENST00000410059	NM_001178037.1	651		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54388.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGGTTA	NONE	.	.	.	.	.	ENSP00000376855	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	HIGH	21/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,splice_acceptor_variant,,ENST00000393147,;DPP10,splice_acceptor_variant,,ENST00000409163,;DPP10,splice_acceptor_variant,,ENST00000310323,;DPP10,splice_acceptor_variant,,ENST00000410059,;DPP10,splice_acceptor_variant,,ENST00000473362,;	.	112	110	SUCCESS
INSIG2	51141	.	GRCh37	2	118854041	118854041	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	15	0	ENST00000245787.4:c.-92G>T		p.*31*	ENST00000245787	NM_016133.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2122.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGCGTCA	NONE	.	.	.	.	.	ENSP00000245787	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000245787	Transcript	.	.	ENSG00000125629	20452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSI2_HUMAN	INSIG2	HGNC	B4DQ23_HUMAN	.	UPI0000073C50	SNV	INSIG2,5_prime_UTR_variant,,ENST00000245787,;INSIG2,intron_variant,,ENST00000467223,;INSIG2,intron_variant,,ENST00000471186,;INSIG2,intron_variant,,ENST00000485520,;INSIG2,intron_variant,,ENST00000411929,;	115	15	15	SUCCESS
STEAP3	55240	.	GRCh37	2	120020691	120020691	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	40	0	ENST00000393106.2:c.1244G>T	p.Trp415Leu	p.W415L	ENST00000393106	NM_018234.2	415	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS42738.1	1274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTGGACCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239:SF7,hmmpanther:PTHR14239	.	.	ENSP00000376822	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393110	Transcript	.	.	ENSG00000115107	24592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	STEA3_HUMAN	STEAP3	HGNC	.	.	UPI0000207E04	SNV	STEAP3,missense_variant,p.Trp415Leu,ENST00000354888,;STEAP3,missense_variant,p.Trp415Leu,ENST00000393106,;STEAP3,missense_variant,p.Trp415Leu,ENST00000393107,;STEAP3,missense_variant,p.Trp415Leu,ENST00000393108,;STEAP3,missense_variant,p.Trp415Leu,ENST00000425223,;STEAP3,missense_variant,p.Trp425Leu,ENST00000393110,;STEAP3,3_prime_UTR_variant,,ENST00000409811,;	1725	40	44	SUCCESS
GLI2	2736	.	GRCh37	2	121743964	121743964	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	60	147	0	ENST00000361492.4:c.2067G>T	p.Gly689=	p.G689=	ENST00000361492	NM_005270.4	689	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33283.1	2067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGAGCCT	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	13/14	.	.	.	.	.	.	.	.	COSM95920	13/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,synonymous_variant,p.%3D,ENST00000452319,;GLI2,synonymous_variant,p.%3D,ENST00000361492,;GLI2,synonymous_variant,p.%3D,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000445186,;	2127	147	127	SUCCESS
HS6ST1	9394	.	GRCh37	2	129026114	129026114	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	93	0	ENST00000259241.6:c.858G>A	p.Arg286=	p.R286=	ENST00000259241	NM_004807.2	286	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS42748.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCCGCAG	NONE	.	.	hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Pfam_domain:PF03567	.	.	ENSP00000259241	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259241	Transcript	.	.	ENSG00000136720	5201	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H6ST1_HUMAN	HS6ST1	HGNC	B4E2L3_HUMAN	.	UPI0000D61231	SNV	HS6ST1,synonymous_variant,p.%3D,ENST00000259241,;HS6ST1,intron_variant,,ENST00000469019,;HS6ST1,downstream_gene_variant,,ENST00000463963,;	872	93	84	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131803692	131803692	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	52	0	ENST00000326016.5:c.2003T>C	p.Leu668Pro	p.L668P	ENST00000326016	NM_015320.3	668	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS2165.1	2003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTGGCGG	NONE	.	.	hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826	.	.	ENSP00000316845	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Leu668Pro,ENST00000326016,;ARHGEF4,missense_variant,p.Leu170Pro,ENST00000428230,;ARHGEF4,missense_variant,p.Leu597Pro,ENST00000355771,;ARHGEF4,missense_variant,p.Leu350Pro,ENST00000438985,;ARHGEF4,missense_variant,p.Leu608Pro,ENST00000409303,;ARHGEF4,3_prime_UTR_variant,,ENST00000392953,;ARHGEF4,3_prime_UTR_variant,,ENST00000525839,;FAM168B,downstream_gene_variant,,ENST00000409185,;ARHGEF4,downstream_gene_variant,,ENST00000532720,;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,downstream_gene_variant,,ENST00000527365,;ARHGEF4,downstream_gene_variant,,ENST00000525092,;	2522	52	46	SUCCESS
NEB	4703	.	GRCh37	2	152522831	152522831	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	88	0	ENST00000172853.10:c.4804T>A	p.Tyr1602Asn	p.Y1602N	ENST00000172853		1602	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS54407.1	4804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTAGTGAA	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	41/182	.	.	.	.	.	.	.	.	.	41/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Tyr1602Asn,ENST00000603639,;NEB,missense_variant,p.Tyr1602Asn,ENST00000172853,;NEB,missense_variant,p.Tyr1602Asn,ENST00000427231,;NEB,missense_variant,p.Tyr1602Asn,ENST00000397345,;NEB,missense_variant,p.Tyr1602Asn,ENST00000604864,;NEB,missense_variant,p.Tyr1602Asn,ENST00000409198,;NEB,downstream_gene_variant,,ENST00000484968,;	5007	88	80	SUCCESS
ARL6IP6	151188	.	GRCh37	2	153575126	153575126	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	30	51	0	ENST00000326446.5:c.-13T>A		p.*5*	ENST00000326446	NM_152522.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2197.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTTGTGTT	NONE	.	.	.	.	.	ENSP00000315357	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000326446	Transcript	.	.	ENSG00000177917	24048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AR6P6_HUMAN	ARL6IP6	HGNC	.	.	UPI000006EA01	SNV	ARL6IP6,5_prime_UTR_variant,,ENST00000326446,;PRPF40A,upstream_gene_variant,,ENST00000410080,;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,upstream_gene_variant,,ENST00000545856,;PRPF40A,upstream_gene_variant,,ENST00000448428,;ARL6IP6,intron_variant,,ENST00000495469,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;PRPF40A,upstream_gene_variant,,ENST00000486100,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;PRPF40A,upstream_gene_variant,,ENST00000450303,;ARL6IP6,upstream_gene_variant,,ENST00000455875,;PRPF40A,upstream_gene_variant,,ENST00000489741,;PRPF40A,upstream_gene_variant,,ENST00000354363,;	699	51	60	SUCCESS
TANC1	85461	.	GRCh37	2	160087091	160087091	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	40	123	0	ENST00000263635.6:c.5154C>A	p.Pro1718=	p.P1718=	ENST00000263635	NM_033394.2	1718	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42766.1	5154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCCGCAA	NONE	.	.	hmmpanther:PTHR24166:SF23,hmmpanther:PTHR24166	.	.	ENSP00000263635	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000263635	Transcript	.	.	ENSG00000115183	29364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TANC1_HUMAN	TANC1	HGNC	.	.	UPI0000421D80	SNV	TANC1,synonymous_variant,p.%3D,ENST00000263635,;TANC1,synonymous_variant,p.%3D,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000496406,;TANC1,non_coding_transcript_exon_variant,,ENST00000470074,;	5391	123	104	SUCCESS
DPP4	1803	.	GRCh37	2	162895528	162895528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	52	166	0	ENST00000360534.3:c.423G>T	p.Gln141His	p.Q141H	ENST00000360534	NM_001935.3	141	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS2216.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCTGCCT	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF93,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171	.	.	ENSP00000353731	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000360534	Transcript	.	.	ENSG00000197635	3009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	tolerated(0.07)	.	DPP4_HUMAN	DPP4	HGNC	.	.	UPI000004F7BF	SNV	DPP4,missense_variant,p.Gln141His,ENST00000360534,;DPP4,non_coding_transcript_exon_variant,,ENST00000497461,;DPP4,missense_variant,p.Gln140His,ENST00000434918,;DPP4,3_prime_UTR_variant,,ENST00000416189,;DPP4,3_prime_UTR_variant,,ENST00000413651,;DPP4,non_coding_transcript_exon_variant,,ENST00000461836,;DPP4,non_coding_transcript_exon_variant,,ENST00000490286,;	984	167	151	SUCCESS
SCN1A	6323	.	GRCh37	2	166897949	166897949	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	60	0	ENST00000303395.4:c.2207C>T	p.Pro736Leu	p.P736L	ENST00000303395		736	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54413.1	2207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGGGTGGG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	.	ENSP00000303540	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.02)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Pro708Leu,ENST00000409050,;SCN1A,missense_variant,p.Pro736Leu,ENST00000423058,;SCN1A,missense_variant,p.Pro736Leu,ENST00000303395,;SCN1A,missense_variant,p.Pro725Leu,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;	2207	60	61	SUCCESS
XIRP2	129446	.	GRCh37	2	168106056	168106056	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	98	320	2	ENST00000409195.1:c.8154A>G	p.Leu2718=	p.L2718=	ENST00000409195	NM_152381.5	2718	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS42769.1	8154	RADIA|VARSCANS	.	ACTCTAGATCA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8243	323	255	SUCCESS
NOSTRIN	115677	.	GRCh37	2	169681160	169681160	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	351	204	647	0	ENST00000317647.7:c.130A>C	p.Ser44Arg	p.S44R	ENST00000317647	NM_001039724.3	44	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS54415.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTAGCTAT	NONE	.	.	PROSITE_profiles:PS50133,hmmpanther:PTHR14167:SF22,hmmpanther:PTHR14167,Pfam_domain:PF00611,Superfamily_domains:SSF103657	.	.	ENSP00000394051	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000444448	Transcript	.	.	ENSG00000163072	20203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	tolerated(0.07)	.	NOSTN_HUMAN	NOSTRIN	HGNC	Q53TH8_HUMAN	.	UPI00001400FD	SNV	NOSTRIN,missense_variant,p.Ser44Arg,ENST00000444448,;NOSTRIN,missense_variant,p.Ser44Arg,ENST00000458381,;NOSTRIN,missense_variant,p.Ser44Arg,ENST00000317647,;NOSTRIN,5_prime_UTR_variant,,ENST00000447264,;NOSTRIN,5_prime_UTR_variant,,ENST00000445023,;NOSTRIN,5_prime_UTR_variant,,ENST00000397206,;NOSTRIN,intron_variant,,ENST00000397209,;NOSTRIN,intron_variant,,ENST00000421711,;NOSTRIN,missense_variant,p.Leu85Phe,ENST00000439509,;	606	647	556	SUCCESS
PPIG	9360	.	GRCh37	2	170465241	170465241	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	137	348	0	ENST00000260970.3:c.350A>G	p.Lys117Arg	p.K117R	ENST00000260970	NM_004792.2	117	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2235.1	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAAGGATA	NONE	.	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF56,Pfam_domain:PF00160,Gene3D:2.40.100.10,Superfamily_domains:SSF50891,Prints_domain:PR00153	.	.	ENSP00000260970	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000260970	Transcript	.	.	ENSG00000138398	14650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.377)	.	deleterious(0.04)	.	PPIG_HUMAN	PPIG	HGNC	C9JT64_HUMAN,C9JN15_HUMAN	.	UPI000013D124	SNV	PPIG,missense_variant,p.Lys102Arg,ENST00000409714,;PPIG,missense_variant,p.Lys117Arg,ENST00000414307,;PPIG,missense_variant,p.Lys117Arg,ENST00000260970,;PPIG,missense_variant,p.Lys117Arg,ENST00000462903,;PPIG,missense_variant,p.Lys113Arg,ENST00000433207,;PPIG,missense_variant,p.Lys117Arg,ENST00000448752,;PPIG,downstream_gene_variant,,ENST00000418888,;PPIG,non_coding_transcript_exon_variant,,ENST00000530152,;PPIG,missense_variant,p.Arg96Gly,ENST00000417938,;	570	348	322	SUCCESS
CDCA7	83879	.	GRCh37	2	174230178	174230178	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	74	0	ENST00000347703.3:c.658-2A>C		p.X220_splice	ENST00000347703	NM_145810.2	220		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2252.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCAGGAAG	NONE	.	.	.	.	.	ENSP00000306968	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306721	Transcript	.	.	ENSG00000144354	14628	.	.	HIGH	6/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDCA7_HUMAN	CDCA7	HGNC	B4DM13_HUMAN	.	UPI0000456EA4	SNV	CDCA7,splice_acceptor_variant,,ENST00000410101,;CDCA7,splice_acceptor_variant,,ENST00000392567,;CDCA7,splice_acceptor_variant,,ENST00000306721,;CDCA7,splice_acceptor_variant,,ENST00000410019,;CDCA7,splice_acceptor_variant,,ENST00000347703,;CDCA7,splice_acceptor_variant,,ENST00000468359,;CDCA7,splice_acceptor_variant,,ENST00000467411,;CDCA7,splice_acceptor_variant,,ENST00000496441,;CDCA7,downstream_gene_variant,,ENST00000435616,;	.	74	58	SUCCESS
TTN	7273	.	GRCh37	2	179431803	179431803	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	40	113	0	ENST00000591111.1:c.74133A>G	p.Leu24711=	p.L24711=	ENST00000591111		24711	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS59435.1	79056	RADIA|MUTECT|MUSE	.	CCTTCTAAGAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	79281	113	114	SUCCESS
TTN	7273	.	GRCh37	2	179544108	179544108	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	44	153	0	ENST00000591111.1:c.32749C>A	p.Pro10917Thr	p.P10917T	ENST00000591111		10917	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59435.1	33700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGAACTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	142/363	.	.	.	.	.	.	.	.	.	142/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro9990Thr,ENST00000342992,;TTN,missense_variant,p.Pro11234Thr,ENST00000589042,;TTN,missense_variant,p.Pro10917Thr,ENST00000591111,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	33925	153	126	SUCCESS
TTN	7273	.	GRCh37	2	179587117	179587117	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	38	107	0	ENST00000591111.1:c.21446A>C	p.Gln7149Pro	p.Q7149P	ENST00000591111		7149	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS59435.1	22397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCTGTAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	77/363	.	.	.	.	.	.	.	.	.	77/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Gln6222Pro,ENST00000342992,;TTN,missense_variant,p.Gln7149Pro,ENST00000591111,;TTN,missense_variant,p.Gln7466Pro,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	22622	107	96	SUCCESS
OSR1	130497	.	GRCh37	2	19552136	19552136	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	100	0	ENST00000272223.2:c.701A>G	p.Gln234Arg	p.Q234R	ENST00000272223	NM_145260.2	234	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS1694.1	701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTGACAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR14196,hmmpanther:PTHR14196:SF5,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441801	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000536433	Transcript	.	.	ENSG00000143867	8111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated(0.13)	.	OSR1_HUMAN	OSR1	HGNC	.	.	UPI000006EA6A	SNV	OSR1,missense_variant,p.Gln234Arg,ENST00000272223,;OSR1,missense_variant,p.Gln234Arg,ENST00000536433,;MIR4757,downstream_gene_variant,,ENST00000584244,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;	3812	100	104	SUCCESS
DNAH7	56171	.	GRCh37	2	196729249	196729249	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	63	154	1	ENST00000312428.6:c.7130A>T	p.His2377Leu	p.H2377L	ENST00000312428	NM_018897.2	2377	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS42794.1	7130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATGCCAT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12780,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	41/65	.	.	.	.	.	.	.	.	.	41/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.47)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.His2377Leu,ENST00000312428,;	7231	156	135	SUCCESS
DNAH7	56171	.	GRCh37	2	196913052	196913052	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	57	0	ENST00000312428.6:c.218A>T	p.Glu73Val	p.E73V	ENST00000312428	NM_018897.2	73	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS42794.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTTCTGGA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	4/65	.	.	.	.	.	.	.	.	.	4/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated_low_confidence(0.06)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Glu73Val,ENST00000410072,;DNAH7,missense_variant,p.Glu48Val,ENST00000427816,;DNAH7,missense_variant,p.Glu73Val,ENST00000312428,;	319	57	54	SUCCESS
HECW2	57520	.	GRCh37	2	197183894	197183894	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	99	0	ENST00000260983.3:c.1720G>A	p.Asp574Asn	p.D574N	ENST00000260983	NM_020760.1	574	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33354.1	1720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCTACCT	NONE	.	.	hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254	.	.	ENSP00000260983	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.13)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Asp574Asn,ENST00000260983,;HECW2,missense_variant,p.Asp218Asn,ENST00000409111,;	1903	99	95	SUCCESS
MYT1L	23040	.	GRCh37	2	1983303	1983303	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	134	0	ENST00000399161.2:c.79G>T	p.Glu27Ter	p.E27*	ENST00000399161	NM_015025.2	27	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS46222.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTTGTA	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,stop_gained,p.Glu27Ter,ENST00000399161,;MYT1L,stop_gained,p.Glu27Ter,ENST00000428368,;MYT1L,non_coding_transcript_exon_variant,,ENST00000485348,;	749	134	88	SUCCESS
MARS2	92935	.	GRCh37	2	198570872	198570872	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	106	1	ENST00000282276.6:c.743A>T	p.Glu248Val	p.E248V	ENST00000282276	NM_138395.3	248	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33358.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGAGGAGC	NONE	.	.	hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF63,Pfam_domain:PF09334,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00398,Superfamily_domains:SSF52374	.	.	ENSP00000282276	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000282276	Transcript	.	.	ENSG00000247626	25133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.431)	.	deleterious(0)	.	SYMM_HUMAN	MARS2	HGNC	.	.	UPI00000492CE	SNV	MARS2,missense_variant,p.Glu248Val,ENST00000282276,;AC011997.1,intron_variant,,ENST00000409845,;	786	108	98	SUCCESS
ALS2	57679	.	GRCh37	2	202593826	202593826	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	80	162	0	ENST00000264276.6:c.2661G>A	p.Lys887=	p.K887=	ENST00000264276	NM_020919.3	887	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS42800.1	2661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCTTCCT	NONE	.	.	Superfamily_domains:SSF48065,Gene3D:1.20.900.10,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF12	.	.	ENSP00000264276	.	14/34	.	.	.	.	.	.	.	.	.	14/34	PASS	ENST00000264276	Transcript	.	.	ENSG00000003393	443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALS2_HUMAN	ALS2	HGNC	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN	.	UPI0000231C77	SNV	ALS2,synonymous_variant,p.%3D,ENST00000264276,;ALS2,synonymous_variant,p.%3D,ENST00000457679,;ALS2,non_coding_transcript_exon_variant,,ENST00000494017,;ALS2,non_coding_transcript_exon_variant,,ENST00000483703,;ALS2,upstream_gene_variant,,ENST00000489440,;ALS2,synonymous_variant,p.%3D,ENST00000439495,;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;	3034	162	153	SUCCESS
PARD3B	117583	.	GRCh37	2	206036933	206036933	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	44	138	0	ENST00000406610.2:c.1621-2A>T		p.X541_splice	ENST00000406610	NM_205863.3	541		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42806.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTAGGATG	NONE	.	.	.	.	.	ENSP00000351618	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358768	Transcript	.	.	ENSG00000116117	14446	.	.	HIGH	10/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR3L_HUMAN	PARD3B	HGNC	Q587I4_HUMAN,Q53TQ6_HUMAN,Q53TP8_HUMAN,Q53TL6_HUMAN,Q53TI4_HUMAN,Q53T65_HUMAN,Q53SN0_HUMAN,Q4ZG80_HUMAN	.	UPI000007201E	SNV	PARD3B,splice_acceptor_variant,,ENST00000349953,;PARD3B,splice_acceptor_variant,,ENST00000358768,;PARD3B,splice_acceptor_variant,,ENST00000406610,;PARD3B,splice_acceptor_variant,,ENST00000351153,;PARD3B,splice_acceptor_variant,,ENST00000462231,;	.	138	119	SUCCESS
MAP2	4133	.	GRCh37	2	210557752	210557752	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	56	154	0	ENST00000360351.4:c.858T>A	p.Pro286=	p.P286=	ENST00000360351	NM_002374.3	286	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2384.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTGGCCC	BUFFER|p.S285Y|c.854C>A|3	.	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,synonymous_variant,p.%3D,ENST00000447185,;MAP2,synonymous_variant,p.%3D,ENST00000360351,;MAP2,synonymous_variant,p.%3D,ENST00000445941,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000461253,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	1364	154	129	SUCCESS
UNC80	285175	.	GRCh37	2	210805966	210805966	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	45	127	0	ENST00000439458.1:c.6470T>C	p.Leu2157Pro	p.L2157P	ENST00000439458	NM_032504.1	2157	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS46504.1	6470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCGACA	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	43/64	.	.	.	.	.	.	.	.	.	43/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Leu2157Pro,ENST00000439458,;UNC80,missense_variant,p.Leu2152Pro,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	6550	127	101	SUCCESS
APOB	338	.	GRCh37	2	21229513	21229513	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	46	95	0	ENST00000233242.1:c.10227T>A	p.Ser3409Arg	p.S3409R	ENST00000233242	NM_000384.2	3409	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS1703.1	10227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGACTACC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Ser3409Arg,ENST00000233242,;	10355	95	105	SUCCESS
ABCA12	26154	.	GRCh37	2	215833480	215833480	+	synonymous_variant	Silent	SNP	A	A	G	rs775639136	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	42	99	0	ENST00000272895.7:c.5742T>C	p.Asp1914=	p.D1914=	ENST00000272895	NM_173076.2	1914	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS33372.1	5742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATATCAAA	NONE	byFrequency	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	38/53	.	.	.	.	.	.	.	.	rs775639136	38/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,synonymous_variant,p.%3D,ENST00000389661,;ABCA12,synonymous_variant,p.%3D,ENST00000272895,;	5962	99	114	SUCCESS
ABCA12	26154	.	GRCh37	2	215914355	215914355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	104	0	ENST00000272895.7:c.688T>A	p.Ser230Thr	p.S230T	ENST00000272895	NM_173076.2	230	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS33372.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAGAACT	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000272895	.	6/53	.	.	.	.	.	.	.	.	.	6/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.23)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Ser230Thr,ENST00000272895,;	908	104	86	SUCCESS
TNS1	7145	.	GRCh37	2	218750502	218750502	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	64	0	ENST00000171887.4:c.706A>G	p.Ile236Val	p.I236V	ENST00000171887	NM_022648.4	236	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2407.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGATGGTGA	NONE	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40,Gene3D:1d5rA02,Pfam_domain:PF10409,Superfamily_domains:SSF49562	.	.	ENSP00000171887	.	13/33	.	.	.	.	.	.	.	.	.	13/33	PASS	ENST00000171887	Transcript	.	.	ENSG00000079308	11973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TENS1_HUMAN	TNS1	HGNC	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN	.	UPI0000456EEB	SNV	TNS1,missense_variant,p.Ile304Val,ENST00000413554,;TNS1,missense_variant,p.Ile236Val,ENST00000171887,;TNS1,missense_variant,p.Ile12Val,ENST00000453356,;TNS1,missense_variant,p.Ile361Val,ENST00000446903,;TNS1,missense_variant,p.Ile236Val,ENST00000419504,;TNS1,missense_variant,p.Ile267Val,ENST00000310858,;TNS1,missense_variant,p.Ile236Val,ENST00000430930,;TNS1,non_coding_transcript_exon_variant,,ENST00000479185,;TNS1,downstream_gene_variant,,ENST00000492338,;	1159	64	68	SUCCESS
ASIC4	55515	.	GRCh37	2	220396495	220396495	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	101	379	0	ENST00000347842.3:c.979G>T	p.Gly327Trp	p.G327W	ENST00000347842	NM_182847.2	327	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS2442.1	979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATGGGAAG	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF13,Gene3D:2qtsA02,Pfam_domain:PF00858	.	.	ENSP00000326627	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000347842	Transcript	.	.	ENSG00000072182	21263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ASIC4_HUMAN	ASIC4	HGNC	.	.	UPI0000456EFC	SNV	ASIC4,missense_variant,p.Gly327Trp,ENST00000358078,;ASIC4,missense_variant,p.Gly327Trp,ENST00000347842,;ASIC4,non_coding_transcript_exon_variant,,ENST00000473709,;ASIC4,non_coding_transcript_exon_variant,,ENST00000461395,;ASIC4,non_coding_transcript_exon_variant,,ENST00000474489,;	993	380	268	SUCCESS
SERPINE2	5270	.	GRCh37	2	224866418	224866418	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	61	0	ENST00000258405.4:c.200T>A	p.Leu67Gln	p.L67Q	ENST00000258405	NM_001136528.1	67	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS46525.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCAGCTGA	NONE	.	.	hmmpanther:PTHR11461:SF48,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000415786	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000447280	Transcript	.	.	ENSG00000135919	8951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.02)	.	GDN_HUMAN	SERPINE2	HGNC	C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN,B4DMR3_HUMAN	.	UPI00017A7317	SNV	SERPINE2,missense_variant,p.Leu67Gln,ENST00000432738,;SERPINE2,missense_variant,p.Leu67Gln,ENST00000409304,;SERPINE2,missense_variant,p.Leu67Gln,ENST00000454956,;SERPINE2,missense_variant,p.Leu67Gln,ENST00000409840,;SERPINE2,missense_variant,p.Leu79Gln,ENST00000447280,;SERPINE2,missense_variant,p.Leu67Gln,ENST00000258405,;SERPINE2,downstream_gene_variant,,ENST00000423446,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000489065,;	537	61	58	SUCCESS
COL4A4	1286	.	GRCh37	2	227886777	227886777	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	97	225	1	ENST00000396625.3:c.4203C>T	p.Gly1401=	p.G1401=	ENST00000396625	NM_000092.4	1401	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42828.1	4203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGCCTCT	BUFFER|p.S1403P|c.4207T>C|4	.	.	hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021	.	.	ENSP00000379866	.	44/48	.	.	.	.	.	.	.	.	.	44/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,synonymous_variant,p.%3D,ENST00000329662,;COL4A4,synonymous_variant,p.%3D,ENST00000396625,;	4411	226	229	SUCCESS
DGKD	8527	.	GRCh37	2	234368877	234368877	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	8	242	0	ENST00000264057.2:c.2867A>C	p.Gln956Pro	p.Q956P	ENST00000264057	NM_152879.2	956	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS2504.1	2867	MUTECT|MUSE	.	CAAGCAGAAGT	NONE	.	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30	.	.	ENSP00000264057	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.206)	.	deleterious(0.03)	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,missense_variant,p.Gln956Pro,ENST00000264057,;DGKD,missense_variant,p.Gln912Pro,ENST00000409813,;DGKD,3_prime_UTR_variant,,ENST00000430834,;DGKD,downstream_gene_variant,,ENST00000471764,;DGKD,downstream_gene_variant,,ENST00000490764,;DGKD,upstream_gene_variant,,ENST00000495901,;	2879	242	215	SUCCESS
KLHL29	114818	.	GRCh37	2	23918605	23918605	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	87	0	ENST00000486442.1:c.1655T>A	p.Leu552Gln	p.L552Q	ENST00000486442	NM_052920.1	552	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS54335.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTGGTGA	NONE	.	.	hmmpanther:PTHR24412:SF10,hmmpanther:PTHR24412	.	.	ENSP00000420659	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000486442	Transcript	.	.	ENSG00000119771	29404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.03)	.	KLH29_HUMAN	KLHL29	HGNC	Q53T86_HUMAN	.	UPI000058F1B6	SNV	KLHL29,missense_variant,p.Leu392Gln,ENST00000288548,;KLHL29,missense_variant,p.Leu552Gln,ENST00000486442,;KLHL29,non_coding_transcript_exon_variant,,ENST00000471654,;	2372	87	58	SUCCESS
FARP2	9855	.	GRCh37	2	242380941	242380941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	89	0	ENST00000264042.3:c.1381C>T	p.Leu461Phe	p.L461F	ENST00000264042	NM_014808.2	461	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33424.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58	.	.	ENSP00000264042	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000264042	Transcript	.	.	ENSG00000006607	16460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.163)	.	tolerated(0.06)	.	FARP2_HUMAN	FARP2	HGNC	C9JWM9_HUMAN,C9JVQ5_HUMAN	.	UPI0000073D5B	SNV	FARP2,missense_variant,p.Leu461Phe,ENST00000264042,;FARP2,missense_variant,p.Leu461Phe,ENST00000373287,;FARP2,missense_variant,p.Leu461Phe,ENST00000545004,;FARP2,missense_variant,p.Leu148Phe,ENST00000413432,;	1551	89	83	SUCCESS
GPR113	0	.	GRCh37	2	26540974	26540974	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	118	1	ENST00000311519.1:c.196T>G	p.Cys66Gly	p.C66G	ENST00000311519	NM_001145168.1	66	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS46239.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGGCAG	NONE	.	.	.	.	.	ENSP00000307831	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000311519	Transcript	.	.	ENSG00000173567	18989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.04)	.	GP113_HUMAN	GPR113	HGNC	.	.	UPI000007411E	SNV	GPR113,missense_variant,p.Cys66Gly,ENST00000311519,;GPR113,intron_variant,,ENST00000433584,;GPR113,intron_variant,,ENST00000541401,;EPT1,intron_variant,,ENST00000442141,;GPR113,intron_variant,,ENST00000333478,;GPR113,intron_variant,,ENST00000421160,;GPR113,intron_variant,,ENST00000459892,;GPR113,intron_variant,,ENST00000487878,;GPR113,intron_variant,,ENST00000435303,;GPR113,intron_variant,,ENST00000447444,;	196	120	88	SUCCESS
EMILIN1	11117	.	GRCh37	2	27302028	27302028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	67	0	ENST00000380320.4:c.95A>G	p.Tyr32Cys	p.Y32C	ENST00000380320	NM_007046.3	32	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1733.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTACACAG	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1	.	.	ENSP00000369677	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000380320	Transcript	.	.	ENSG00000138080	19880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	EMIL1_HUMAN	EMILIN1	HGNC	.	.	UPI000013D0F3	SNV	EMILIN1,missense_variant,p.Tyr32Cys,ENST00000380320,;EMILIN1,upstream_gene_variant,,ENST00000433140,;	594	67	42	SUCCESS
WDR43	23160	.	GRCh37	2	29169340	29169340	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	40	111	0	ENST00000407426.3:c.1829A>T	p.Asp610Val	p.D610V	ENST00000407426	NM_015131.1	610	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS46251.1	1829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGATGAAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000384302	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000407426	Transcript	.	.	ENSG00000163811	28945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	deleterious(0)	.	WDR43_HUMAN	WDR43	HGNC	C9JH61_HUMAN,C9JEE7_HUMAN,C9IZK7_HUMAN	.	UPI00001C1DCD	SNV	WDR43,missense_variant,p.Asp162Val,ENST00000446643,;WDR43,missense_variant,p.Asp610Val,ENST00000407426,;	1885	111	117	SUCCESS
QPCT	25797	.	GRCh37	2	37599570	37599570	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766302620	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	109	0	ENST00000338415.3:c.895T>A	p.Tyr299Asn	p.Y299N	ENST00000338415	NM_012413.3	299	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS1790.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTATGGA	NONE	.	.	hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF5,Pfam_domain:PF04389,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000344829	.	6/7	.	.	.	.	.	.	.	.	rs766302620	6/7	PASS	ENST00000338415	Transcript	.	.	ENSG00000115828	9753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.3)	.	QPCT_HUMAN	QPCT	HGNC	.	.	UPI000000DC4F	SNV	QPCT,missense_variant,p.Tyr250Asn,ENST00000404976,;QPCT,missense_variant,p.Tyr299Asn,ENST00000338415,;QPCT,missense_variant,p.Tyr250Asn,ENST00000537448,;QPCT,missense_variant,p.Tyr64Asn,ENST00000444022,;QPCT,non_coding_transcript_exon_variant,,ENST00000469098,;QPCT,downstream_gene_variant,,ENST00000480050,;	1053	109	92	SUCCESS
CAMKMT	79823	.	GRCh37	2	44933426	44933426	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	87	0	ENST00000378494.3:c.438G>A		p.X146_splice	ENST00000378494	NM_024766.4	146	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1820.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGGCCCT	NONE	.	.	PROSITE_profiles:PS51610,hmmpanther:PTHR13539,Pfam_domain:PF10294,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000367755	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378494	Transcript	.	.	ENSG00000143919	26276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMKMT_HUMAN	CAMKMT	HGNC	D6W5A4_HUMAN	.	UPI0000070B33	SNV	CAMKMT,synonymous_variant,p.%3D,ENST00000378494,;CAMKMT,splice_region_variant,,ENST00000477830,;	482	87	83	SUCCESS
FOXN2	3344	.	GRCh37	2	48602463	48602463	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	97	1	ENST00000340553.3:c.1177A>G	p.Ile393Val	p.I393V	ENST00000340553	NM_002158.3	393	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1838.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAATTGAT	NONE	.	.	hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF10	.	.	ENSP00000343633	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000340553	Transcript	.	.	ENSG00000170802	5281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.71)	.	FOXN2_HUMAN	FOXN2	HGNC	Q6IS90_HUMAN,C9JTA7_HUMAN	.	UPI0000226321	SNV	FOXN2,missense_variant,p.Ile393Val,ENST00000340553,;FOXN2,downstream_gene_variant,,ENST00000413569,;	1438	98	89	SUCCESS
NRXN1	9378	.	GRCh37	2	50149221	50149221	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	50	120	0	ENST00000406316.2:c.4295C>A	p.Ser1432Ter	p.S1432*	ENST00000406316	NM_004801.4	1432	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS46282.1	4505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATGAGCCT	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Pfam_domain:PF01034,SMART_domains:SM00294	.	.	ENSP00000385142	.	24/24	.	.	.	.	.	.	.	.	COSM341316,COSM341318,COSM341317	24/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,stop_gained,p.Ser1454Ter,ENST00000405472,;NRXN1,stop_gained,p.Ser450Ter,ENST00000401710,;NRXN1,stop_gained,p.Ser1502Ter,ENST00000404971,;NRXN1,stop_gained,p.Ser1432Ter,ENST00000406316,;NRXN1,stop_gained,p.Ser99Ter,ENST00000378262,;NRXN1,stop_gained,p.Ser1462Ter,ENST00000401669,;NRXN1,stop_gained,p.Ser1432Ter,ENST00000406859,;NRXN1,stop_gained,p.Ser165Ter,ENST00000412315,;NRXN1,stop_gained,p.Ser397Ter,ENST00000342183,;NRXN1,stop_gained,p.Ser1454Ter,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000484192,;	5845	120	116	SUCCESS
SPTBN1	6711	.	GRCh37	2	54882216	54882216	+	synonymous_variant	Silent	SNP	A	A	G	rs1231103930	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	117	1	ENST00000356805.4:c.5832A>G	p.Ser1944=	p.S1944=	ENST00000356805	NM_003128.2	1944	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33198.1	5832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCATCTGT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,synonymous_variant,p.%3D,ENST00000333896,;SPTBN1,synonymous_variant,p.%3D,ENST00000356805,;SPTBN1,non_coding_transcript_exon_variant,,ENST00000496323,;	6113	118	105	SUCCESS
CCT4	10575	.	GRCh37	2	62112155	62112155	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	45	110	0	ENST00000394440.3:c.180G>C	p.Met60Ile	p.M60I	ENST00000394440	NM_006430.3	60	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS33206.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACCATTTT	NONE	.	.	hmmpanther:PTHR11353,PROSITE_patterns:PS00750,Gene3D:1.10.560.10,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02342,Superfamily_domains:SSF48592,Prints_domain:PR00304	.	.	ENSP00000377958	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000394440	Transcript	.	.	ENSG00000115484	1617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0.02)	.	TCPD_HUMAN	CCT4	HGNC	B7Z9L0_HUMAN,B7Z2F4_HUMAN	.	UPI00000362DF	SNV	CCT4,missense_variant,p.Met60Ile,ENST00000394440,;CCT4,missense_variant,p.Met4Ile,ENST00000538252,;CCT4,missense_variant,p.Met60Ile,ENST00000544079,;CCT4,splice_region_variant,,ENST00000544185,;AC107081.5,intron_variant,,ENST00000425779,;COMMD1,upstream_gene_variant,,ENST00000472729,;CCT4,downstream_gene_variant,,ENST00000461370,;	477	110	94	SUCCESS
MPHOSPH10	10199	.	GRCh37	2	71376544	71376544	+	synonymous_variant	Silent	SNP	A	A	G	rs1233907015	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	170	448	2	ENST00000244230.2:c.1857A>G	p.Leu619=	p.L619=	ENST00000244230	NM_005791.2	619	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1916.1	1857	RADIA|SOMATICSNIPER|VARSCANS	.	AAGTTAAAACA	NONE	.	.	hmmpanther:PTHR17039,Pfam_domain:PF04006,PIRSF_domain:PIRSF017300	.	.	ENSP00000244230	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000244230	Transcript	.	.	ENSG00000124383	7213	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPP10_HUMAN	MPHOSPH10	HGNC	.	.	UPI000012F41D	SNV	MPHOSPH10,synonymous_variant,p.%3D,ENST00000244230,;MPHOSPH10,non_coding_transcript_exon_variant,,ENST00000493360,;MPHOSPH10,downstream_gene_variant,,ENST00000476969,;	2209	450	437	SUCCESS
RAB11FIP5	26056	.	GRCh37	2	73315575	73315575	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	36	0	ENST00000258098.6:c.1171A>G	p.Ser391Gly	p.S391G	ENST00000258098	NM_015470.2	391	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS1923.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACTGCCTC	NONE	.	.	hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF14	.	.	ENSP00000258098	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000258098	Transcript	.	.	ENSG00000135631	24845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	RFIP5_HUMAN	RAB11FIP5	HGNC	Q53T28_HUMAN,Q2Z1P3_HUMAN	.	UPI000007079C	SNV	RAB11FIP5,missense_variant,p.Ser391Gly,ENST00000258098,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;RAB11FIP5,downstream_gene_variant,,ENST00000475951,;	1412	36	38	SUCCESS
SEMA4F	10505	.	GRCh37	2	74883712	74883712	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	136	0	ENST00000357877.2:c.197C>A	p.Ser66Tyr	p.S66Y	ENST00000357877	NM_004263.4	66	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS1955.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCTGTTC	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,PROSITE_profiles:PS51004	.	.	ENSP00000350547	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000357877	Transcript	.	.	ENSG00000135622	10734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	SEM4F_HUMAN	SEMA4F	HGNC	.	.	UPI0000001BF5	SNV	SEMA4F,missense_variant,p.Ser66Tyr,ENST00000453930,;SEMA4F,missense_variant,p.Ser66Tyr,ENST00000357877,;SEMA4F,missense_variant,p.Ser66Tyr,ENST00000434486,;SEMA4F,missense_variant,p.Ser66Tyr,ENST00000339773,;SEMA4F,missense_variant,p.Ser66Tyr,ENST00000420077,;SEMA4F,missense_variant,p.Ser66Tyr,ENST00000446927,;SEMA4F,3_prime_UTR_variant,,ENST00000416236,;SEMA4F,intron_variant,,ENST00000458114,;	346	136	109	SUCCESS
VWA3B	200403	.	GRCh37	2	98797635	98797635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	43	181	0	ENST00000477737.1:c.1271T>C	p.Ile424Thr	p.I424T	ENST00000477737	NM_144992.4	424	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS42718.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATAAAAG	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious(0)	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,missense_variant,p.Ile274Thr,ENST00000451075,;VWA3B,missense_variant,p.Ile424Thr,ENST00000477737,;VWA3B,missense_variant,p.Ile424Thr,ENST00000435344,;VWA3B,missense_variant,p.Ile424Thr,ENST00000433678,;VWA3B,3_prime_UTR_variant,,ENST00000416277,;VWA3B,3_prime_UTR_variant,,ENST00000422503,;VWA3B,3_prime_UTR_variant,,ENST00000448638,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	1475	181	115	SUCCESS
ZBED2	79413	.	GRCh37	3	111312691	111312691	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	66	0	ENST00000317012.4:c.358C>A	p.Gln120Lys	p.Q120K	ENST00000317012	NM_024508.4	120	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS2960.2	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTGCCCAG	NONE	.	.	.	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.88)	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	SNV	ZBED2,missense_variant,p.Gln120Lys,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	1367	66	63	SUCCESS
PLCXD2	257068	.	GRCh37	3	111394182	111394182	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	81	241	0	ENST00000477665.1:c.90C>A	p.Val30=	p.V30=	ENST00000477665	NM_001185106.1	30	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54619.1	90	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCTGCAA	NONE	.	.	hmmpanther:PTHR13593:SF32,hmmpanther:PTHR13593,Gene3D:3.20.20.190	.	.	ENSP00000420686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,synonymous_variant,p.%3D,ENST00000477665,;PLCXD2,synonymous_variant,p.%3D,ENST00000393934,;PLCXD2-AS1,downstream_gene_variant,,ENST00000493131,;	414	241	195	SUCCESS
CCDC80	151887	.	GRCh37	3	112358178	112358178	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	59	120	0	ENST00000206423.3:c.575A>G	p.Gln192Arg	p.Q192R	ENST00000206423	NM_199512.1	192	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS2968.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGGTGG	NONE	.	.	Pfam_domain:PF13778	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	tolerated(0.16)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Gln192Arg,ENST00000206423,;CCDC80,missense_variant,p.Gln192Arg,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	1529	120	125	SUCCESS
CD200R1L	344807	.	GRCh37	3	112546319	112546319	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766740019	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	58	168	1	ENST00000398214.1:c.325G>T	p.Asp109Tyr	p.D109Y	ENST00000398214	NM_001008784.2	109	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS43131.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCCGAAT	NONE	.	.	hmmpanther:PTHR21462:SF3,hmmpanther:PTHR21462,Gene3D:2.60.40.10	.	.	ENSP00000381272	.	3/6	.	.	.	.	.	.	.	.	rs766740019	3/6	PASS	ENST00000398214	Transcript	.	.	ENSG00000206531	24665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	deleterious(0.04)	.	MO2R2_HUMAN	CD200R1L	HGNC	.	.	UPI000042263C	SNV	CD200R1L,missense_variant,p.Asp88Tyr,ENST00000488794,;CD200R1L,missense_variant,p.Asp88Tyr,ENST00000448932,;CD200R1L,missense_variant,p.Asp109Tyr,ENST00000398214,;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;	551	169	156	SUCCESS
BOC	91653	.	GRCh37	3	112993376	112993376	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	56	165	0	ENST00000355385.3:c.1389A>T	p.Pro463=	p.P463=	ENST00000355385	NM_033254.2	463	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2971.1	1389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAGGAGA	NONE	.	.	hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489	.	.	ENSP00000418663	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,synonymous_variant,p.%3D,ENST00000355385,;BOC,synonymous_variant,p.%3D,ENST00000495514,;BOC,synonymous_variant,p.%3D,ENST00000273395,;BOC,non_coding_transcript_exon_variant,,ENST00000497495,;BOC,downstream_gene_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,downstream_gene_variant,,ENST00000471963,;	2093	165	119	SUCCESS
C3orf30	0	.	GRCh37	3	118865983	118865983	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	121	0	ENST00000295622.1:c.947A>G	p.Glu316Gly	p.E316G	ENST00000295622	NM_152539.2	316	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS2984.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGAACTAG	NONE	.	.	hmmpanther:PTHR21847:SF1,hmmpanther:PTHR21847	.	.	ENSP00000295622	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295622	Transcript	.	.	ENSG00000163424	26553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	.	tolerated(0.28)	.	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,missense_variant,p.Glu51Gly,ENST00000492792,;C3orf30,missense_variant,p.Glu316Gly,ENST00000295622,;C3orf30,missense_variant,p.Glu280Gly,ENST00000460150,;C3orf30,missense_variant,p.Glu109Gly,ENST00000473121,;IGSF11,upstream_gene_variant,,ENST00000425327,;RP11-484M3.5,upstream_gene_variant,,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000354673,;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Glu316Gly,ENST00000494105,;	987	121	123	SUCCESS
HGD	3081	.	GRCh37	3	120401025	120401028	+	5_prime_UTR_variant	5'UTR	DEL	TTCT	TTCT	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	TTCT	TTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	49	0	ENST00000283871.5:c.-70_-67del		p.*24*	ENST00000283871	NM_000187.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3000.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATGCTTCTTTCTC	NONE	.	.	.	.	.	ENSP00000283871	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000283871	Transcript	.	.	ENSG00000113924	4892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HGD_HUMAN	HGD	HGNC	B3KW64_HUMAN	.	UPI000020A025	deletion	HGD,5_prime_UTR_variant,,ENST00000283871,;HGD,upstream_gene_variant,,ENST00000476082,;RABL3,downstream_gene_variant,,ENST00000273375,;HGD,non_coding_transcript_exon_variant,,ENST00000488183,;HGD,upstream_gene_variant,,ENST00000485313,;HGD,non_coding_transcript_exon_variant,,ENST00000480862,;HGD,upstream_gene_variant,,ENST00000466528,;	391-394	49	37	SUCCESS
POLQ	10721	.	GRCh37	3	121208148	121208148	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	103	0	ENST00000264233.5:c.3630G>A	p.Gln1210=	p.Q1210=	ENST00000264233	NM_199420.3	1210	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS33833.1	3630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCTGTTT	NONE	.	.	.	.	.	ENSP00000264233	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,synonymous_variant,p.%3D,ENST00000264233,;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	3759	103	113	SUCCESS
ADCY5	111	.	GRCh37	3	123051454	123051454	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	152	1	ENST00000462833.1:c.1475T>A	p.Met492Lys	p.M492K	ENST00000462833	NM_183357.2	492	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS3022.1	1475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCATGACC	NONE	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920,PROSITE_profiles:PS50125	.	.	ENSP00000419361	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.75)	.	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,missense_variant,p.Met492Lys,ENST00000462833,;ADCY5,missense_variant,p.Met125Lys,ENST00000491190,;ADCY5,missense_variant,p.Met51Lys,ENST00000466617,;ADCY5,missense_variant,p.Met51Lys,ENST00000483566,;ADCY5,missense_variant,p.Met142Lys,ENST00000309879,;ADCY5,3_prime_UTR_variant,,ENST00000476455,;	2688	154	132	SUCCESS
SLC41A3	54946	.	GRCh37	3	125775394	125775416	+	intron_variant	Intron	DEL	ATGGCCAGGCAATGCACCACGAT	ATGGCCAGGCAATGCACCACGAT	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	ATGGCCAGGCAATGCACCACGAT	ATGGCCAGGCAATGCACCACGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	130	0	ENST00000315891.6:c.274-5523_274-5501del		p.*92*	ENST00000315891	NM_017836.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33843.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCACCATGGCCAGGCAATGCACCACGATCCCAG	NONE	.	.	.	.	.	ENSP00000326070	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315891	Transcript	.	.	ENSG00000114544	31046	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S41A3_HUMAN	SLC41A3	HGNC	D6RF72_HUMAN,D6R9S7_HUMAN,D6R925_HUMAN	.	UPI000013D523	deletion	SLC41A3,coding_sequence_variant,,ENST00000383598,;SLC41A3,intron_variant,,ENST00000360370,;SLC41A3,intron_variant,,ENST00000507280,;SLC41A3,intron_variant,,ENST00000315891,;SLC41A3,intron_variant,,ENST00000512470,;SLC41A3,intron_variant,,ENST00000514891,;SLC41A3,intron_variant,,ENST00000514333,;SLC41A3,intron_variant,,ENST00000510651,;SLC41A3,intron_variant,,ENST00000346785,;SLC41A3,intron_variant,,ENST00000509064,;SLC41A3,intron_variant,,ENST00000513723,;SLC41A3,intron_variant,,ENST00000514677,;SLC41A3,intron_variant,,ENST00000508835,;SLC41A3,intron_variant,,ENST00000504035,;RP11-158I23.1,upstream_gene_variant,,ENST00000508263,;SLC41A3,intron_variant,,ENST00000514023,;SLC41A3,intron_variant,,ENST00000513464,;SLC41A3,intron_variant,,ENST00000505996,;SLC41A3,intron_variant,,ENST00000507008,;	.	130	79	SUCCESS
TPRA1	131601	.	GRCh37	3	127298924	127298924	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	49	0	ENST00000355552.3:c.66A>G	p.Pro22=	p.P22=	ENST00000355552	NM_001136053.2	22	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3042.1	66	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTTGGTGC	NONE	.	.	hmmpanther:PTHR15876	.	.	ENSP00000347748	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000355552	Transcript	.	.	ENSG00000163870	30413	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPRA1_HUMAN	TPRA1	HGNC	C9JZ00_HUMAN,C9JVW5_HUMAN,C9JU06_HUMAN,C9J5C7_HUMAN	.	UPI00000373F2	SNV	TPRA1,synonymous_variant,p.%3D,ENST00000462228,;TPRA1,synonymous_variant,p.%3D,ENST00000469111,;TPRA1,synonymous_variant,p.%3D,ENST00000450633,;TPRA1,synonymous_variant,p.%3D,ENST00000490643,;TPRA1,synonymous_variant,p.%3D,ENST00000296210,;TPRA1,synonymous_variant,p.%3D,ENST00000355552,;TPRA1,synonymous_variant,p.%3D,ENST00000489960,;TPRA1,synonymous_variant,p.%3D,ENST00000490290,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,synonymous_variant,p.%3D,ENST00000483868,;TPRA1,synonymous_variant,p.%3D,ENST00000393400,;	443	49	36	SUCCESS
KBTBD12	166348	.	GRCh37	3	127642796	127642796	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	58	150	0	ENST00000405109.1:c.892A>T	p.Ser298Cys	p.S298C	ENST00000405109		298	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS33848.2	892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCAGTTTT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000385957	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000405109	Transcript	.	.	ENSG00000187715	25731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.473)	.	deleterious_low_confidence(0.03)	.	KBTBC_HUMAN	KBTBD12	HGNC	B5MCZ4_HUMAN	.	UPI00001D802F	SNV	KBTBD12,missense_variant,p.Ser298Cys,ENST00000405256,;KBTBD12,missense_variant,p.Ser298Cys,ENST00000405109,;KBTBD12,intron_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;	1359	150	125	SUCCESS
CAND2	23066	.	GRCh37	3	12858225	12858225	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	97	139	1	ENST00000456430.2:c.1794T>A	p.Leu598=	p.L598=	ENST00000456430	NM_001162499.1	598	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54554.1	1794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTGTAGG	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,synonymous_variant,p.%3D,ENST00000456430,;CAND2,synonymous_variant,p.%3D,ENST00000295989,;CAND2,downstream_gene_variant,,ENST00000446928,;	1835	140	114	SUCCESS
COL6A6	131873	.	GRCh37	3	130290136	130290136	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	74	219	0	ENST00000358511.6:c.2876T>G	p.Met959Arg	p.M959R	ENST00000358511	NM_001102608.1	959	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS46911.1	2876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCATGGCAG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Met959Arg,ENST00000453409,;COL6A6,missense_variant,p.Met959Arg,ENST00000358511,;	2907	219	178	SUCCESS
ACPP	0	.	GRCh37	3	132075574	132075574	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	146	0	ENST00000351273.7:c.1013A>T	p.Glu338Val	p.E338V	ENST00000351273	NM_001134194.1	338	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS46916.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGAGCCGT	NONE	.	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254	.	.	ENSP00000323036	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.426)	.	deleterious(0.01)	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,missense_variant,p.Glu23Val,ENST00000507647,;ACPP,missense_variant,p.Glu338Val,ENST00000351273,;ACPP,missense_variant,p.Glu305Val,ENST00000475741,;ACPP,missense_variant,p.Glu338Val,ENST00000336375,;ACPP,downstream_gene_variant,,ENST00000512463,;	1063	146	87	SUCCESS
C3orf36	80111	.	GRCh37	3	133647332	133647332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	39	161	0	ENST00000408895.2:c.316T>C	p.Cys106Arg	p.C106R	ENST00000408895	NM_025041.2	106	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS3083.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAAGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000386219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408895	Transcript	.	.	ENSG00000221972	26170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	deleterious_low_confidence(0.01)	.	CC036_HUMAN	C3orf36	HGNC	.	.	UPI000013F433	SNV	C3orf36,missense_variant,p.Cys106Arg,ENST00000408895,;SLCO2A1,downstream_gene_variant,,ENST00000310926,;	1325	161	122	SUCCESS
NUP210	23225	.	GRCh37	3	13401819	13401819	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	92	152	0	ENST00000254508.5:c.2105A>G	p.Asn702Ser	p.N702S	ENST00000254508	NM_024923.3	702	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS33704.1	2105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAATTCCGG	NONE	.	.	hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	.	.	ENSP00000254508	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000254508	Transcript	.	.	ENSG00000132182	30052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.22)	.	PO210_HUMAN	NUP210	HGNC	.	.	UPI00001600AF	SNV	NUP210,missense_variant,p.Asn702Ser,ENST00000254508,;NUP210,non_coding_transcript_exon_variant,,ENST00000420141,;	2188	152	104	SUCCESS
DZIP1L	199221	.	GRCh37	3	137787119	137787119	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	88	1	ENST00000327532.2:c.1706C>A	p.Pro569Gln	p.P569Q	ENST00000327532	NM_173543.2	569	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS3096.1	1706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGGCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21502:SF8,hmmpanther:PTHR21502	.	.	ENSP00000332148	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000327532	Transcript	.	.	ENSG00000158163	26551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.668)	.	tolerated(0.25)	.	DZI1L_HUMAN	DZIP1L	HGNC	C9JRW2_HUMAN,C9JD19_HUMAN	.	UPI0000161A66	SNV	DZIP1L,missense_variant,p.Pro569Gln,ENST00000327532,;DZIP1L,downstream_gene_variant,,ENST00000469243,;DZIP1L,upstream_gene_variant,,ENST00000486487,;DZIP1L,downstream_gene_variant,,ENST00000488595,;	2069	89	51	SUCCESS
RASA2	5922	.	GRCh37	3	141290358	141290358	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	59	208	1	ENST00000286364.3:c.1131T>C	p.Phe377=	p.F377=	ENST00000286364		377	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS3117.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTGCCAC	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000286364	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000286364	Transcript	.	.	ENSG00000155903	9872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA2_HUMAN	RASA2	HGNC	.	.	UPI00001351F5	SNV	RASA2,synonymous_variant,p.%3D,ENST00000286364,;RASA2,synonymous_variant,p.%3D,ENST00000452898,;	1166	209	185	SUCCESS
GRK7	131890	.	GRCh37	3	141497734	141497734	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	65	179	1	ENST00000264952.2:c.608G>T	p.Gly203Val	p.G203V	ENST00000264952	NM_139209.2	203	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3120.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGGGAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000264952	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000264952	Transcript	.	.	ENSG00000114124	17031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GRK7_HUMAN	GRK7	HGNC	.	.	UPI000004244D	SNV	GRK7,missense_variant,p.Gly203Val,ENST00000264952,;	745	180	158	SUCCESS
GK5	256356	.	GRCh37	3	141884551	141884551	+	synonymous_variant	Silent	SNP	T	T	C	rs1465090258	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	142	1	ENST00000392993.2:c.1503A>G	p.Pro501=	p.P501=	ENST00000392993	NM_001039547.2	501	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS33871.1	1503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTGGCTT	NONE	.	.	hmmpanther:PTHR10196:SF54,hmmpanther:PTHR10196,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000418001	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000392993	Transcript	.	.	ENSG00000175066	28635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLPK5_HUMAN	GK5	HGNC	.	.	UPI000069B0CB	SNV	GK5,synonymous_variant,p.%3D,ENST00000392993,;GK5,downstream_gene_variant,,ENST00000486459,;RP11-485G4.2,upstream_gene_variant,,ENST00000608374,;GK5,3_prime_UTR_variant,,ENST00000480757,;GK5,3_prime_UTR_variant,,ENST00000492097,;GK5,3_prime_UTR_variant,,ENST00000463349,;GK5,non_coding_transcript_exon_variant,,ENST00000460515,;	1655	143	133	SUCCESS
XRN1	54464	.	GRCh37	3	142145680	142145680	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	37	87	0	ENST00000264951.4:c.312A>T	p.Ser104=	p.S104=	ENST00000264951	NM_019001.3	104	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3123.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTGACCT	NONE	.	.	hmmpanther:PTHR12341:SF9,hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF006743	.	.	ENSP00000264951	.	3/42	.	.	.	.	.	.	.	.	.	3/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	SNV	XRN1,synonymous_variant,p.%3D,ENST00000463916,;XRN1,synonymous_variant,p.%3D,ENST00000392981,;XRN1,synonymous_variant,p.%3D,ENST00000264951,;XRN1,5_prime_UTR_variant,,ENST00000477237,;XRN1,intron_variant,,ENST00000544157,;XRN1,non_coding_transcript_exon_variant,,ENST00000470537,;XRN1,intron_variant,,ENST00000486211,;XRN1,upstream_gene_variant,,ENST00000472697,;	430	87	64	SUCCESS
C3orf58	0	.	GRCh37	3	143708572	143708572	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	64	132	1	ENST00000315691.3:c.1182G>A	p.Arg394=	p.R394=	ENST00000315691	NM_173552.3	394	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS3130.1	1182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGGCTCGA	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6,Pfam_domain:PF12260	.	.	ENSP00000320081	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,synonymous_variant,p.%3D,ENST00000492452,;C3orf58,synonymous_variant,p.%3D,ENST00000315691,;C3orf58,synonymous_variant,p.%3D,ENST00000495414,;C3orf58,synonymous_variant,p.%3D,ENST00000441925,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,downstream_gene_variant,,ENST00000483808,;	1717	134	130	SUCCESS
GRIP2	80852	.	GRCh37	3	14561754	14561754	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	53	80	0	ENST00000273083.3:n.959T>C		p.*320*	ENST00000273083				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACAGGATG	NONE	.	.	.	.	.	.	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;GRIP2,downstream_gene_variant,,ENST00000422481,;GRIP2,downstream_gene_variant,,ENST00000413414,;	959	81	72	SUCCESS
FGD5	152273	.	GRCh37	3	14860937	14860937	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	150	191	0	ENST00000285046.5:c.359C>A	p.Ser120Ter	p.S120*	ENST00000285046	NM_152536.3	120	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS46767.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATTCAGTGG	NONE	.	.	.	.	.	ENSP00000285046	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000285046	Transcript	.	.	ENSG00000154783	19117	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,stop_gained,p.Ser120Ter,ENST00000285046,;FGD5,5_prime_UTR_variant,,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	469	191	177	SUCCESS
IGSF10	285313	.	GRCh37	3	151156029	151156029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	107	271	1	ENST00000282466.3:c.6320A>G	p.Asn2107Ser	p.N2107S	ENST00000282466	NM_178822.4	2107	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS3160.1	6320	RADIA|VARSCANS	.	CTTTGTTGAAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000282466	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0.05)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Asn2107Ser,ENST00000282466,;IGSF10,intron_variant,,ENST00000489791,;MED12L,downstream_gene_variant,,ENST00000474524,;MED12L,downstream_gene_variant,,ENST00000273432,;IGSF10,non_coding_transcript_exon_variant,,ENST00000495443,;IGSF10,non_coding_transcript_exon_variant,,ENST00000493841,;IGSF10,upstream_gene_variant,,ENST00000497472,;	6320	272	254	SUCCESS
IGSF10	285313	.	GRCh37	3	151160801	151160801	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	100	0	ENST00000282466.3:c.5934A>G	p.Pro1978=	p.P1978=	ENST00000282466	NM_178822.4	1978	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3160.1	5934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGATGGTAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000282466	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,synonymous_variant,p.%3D,ENST00000282466,;IGSF10,synonymous_variant,p.%3D,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	5934	100	92	SUCCESS
KCNAB1	7881	.	GRCh37	3	155838579	155838579	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	51	129	1	ENST00000490337.1:c.179T>A	p.Leu60Gln	p.L60Q	ENST00000490337	NM_172160.2	60	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3174.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTGGCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000419952	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.09)	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,missense_variant,p.Leu60Gln,ENST00000490337,;KCNAB1,missense_variant,p.Leu60Gln,ENST00000389636,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,intron_variant,,ENST00000478609,;	243	130	125	SUCCESS
VEPH1	79674	.	GRCh37	3	157031464	157031464	+	synonymous_variant	Silent	SNP	C	C	A	rs755248749	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	89	0	ENST00000362010.2:c.1956G>T	p.Gly652=	p.G652=	ENST00000362010	NM_001167912.1	652	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3179.1	1956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCCCTGC	NONE	byFrequency	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9	.	.	ENSP00000354919	.	11/14	.	.	.	.	.	.	.	.	rs755248749	11/14	PASS	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,synonymous_variant,p.%3D,ENST00000362010,;VEPH1,synonymous_variant,p.%3D,ENST00000392832,;VEPH1,intron_variant,,ENST00000392833,;VEPH1,intron_variant,,ENST00000543418,;RP11-550I24.2,intron_variant,,ENST00000475102,;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,intron_variant,,ENST00000494885,;	2264	89	81	SUCCESS
B3GALNT1	8706	.	GRCh37	3	160803874	160803874	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	80	0	ENST00000320474.4:c.669T>C	p.His223=	p.H223=	ENST00000320474	NM_003781.3	223	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS3193.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATATGGGT	NONE	.	.	Pfam_domain:PF01762,hmmpanther:PTHR11214:SF17,hmmpanther:PTHR11214	.	.	ENSP00000376532	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000392781	Transcript	.	.	ENSG00000169255	918	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GL1_HUMAN	B3GALNT1	HGNC	R4X604_HUMAN,Q8TDY1_HUMAN,Q8NHI0_HUMAN,Q6RC01_HUMAN,Q6RBZ9_HUMAN,E7EVS2_HUMAN,C9JXR0_HUMAN,C9JRV6_HUMAN,C9JD16_HUMAN,C9J8U7_HUMAN,C9J0F8_HUMAN	.	UPI000000DC24	SNV	B3GALNT1,synonymous_variant,p.%3D,ENST00000392779,;B3GALNT1,synonymous_variant,p.%3D,ENST00000392780,;B3GALNT1,synonymous_variant,p.%3D,ENST00000473285,;B3GALNT1,synonymous_variant,p.%3D,ENST00000320474,;B3GALNT1,synonymous_variant,p.%3D,ENST00000488170,;B3GALNT1,synonymous_variant,p.%3D,ENST00000392781,;B3GALNT1,intron_variant,,ENST00000417187,;B3GALNT1,downstream_gene_variant,,ENST00000460353,;B3GALNT1,downstream_gene_variant,,ENST00000492353,;B3GALNT1,downstream_gene_variant,,ENST00000473142,;B3GALNT1,downstream_gene_variant,,ENST00000498216,;B3GALNT1,downstream_gene_variant,,ENST00000484127,;B3GALNT1,downstream_gene_variant,,ENST00000468268,;B3GALNT1,downstream_gene_variant,,ENST00000494173,;B3GALNT1,downstream_gene_variant,,ENST00000496295,;B3GALNT1,downstream_gene_variant,,ENST00000478383,;B3GALNT1,downstream_gene_variant,,ENST00000476999,;	1417	80	68	SUCCESS
SERPINI2	5276	.	GRCh37	3	167183368	167183368	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	100	0	ENST00000264677.4:c.572A>T	p.Gln191Leu	p.Q191L	ENST00000264677		191	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3200.1	572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTGTTTC	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF51,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000420621	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000476257	Transcript	.	.	ENSG00000114204	8945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	deleterious(0.05)	.	SPI2_HUMAN	SERPINI2	HGNC	C9J7N5_HUMAN	.	UPI0000135E26	SNV	SERPINI2,missense_variant,p.Gln191Leu,ENST00000471111,;SERPINI2,missense_variant,p.Gln191Leu,ENST00000264677,;SERPINI2,missense_variant,p.Gln191Leu,ENST00000461846,;SERPINI2,missense_variant,p.Gln191Leu,ENST00000476257,;SERPINI2,missense_variant,p.Gln191Leu,ENST00000466903,;SERPINI2,downstream_gene_variant,,ENST00000467583,;SERPINI2,downstream_gene_variant,,ENST00000465031,;	871	100	93	SUCCESS
RP11-379K17.4	0	.	GRCh37	3	169663993	169663993	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	74	0	ENST00000483289.2:n.3302T>A		p.*1101*	ENST00000483289				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCATGCCA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000483289	Transcript	.	.	ENSG00000239219	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-379K17.4	Clone_based_vega_gene	.	.	.	SNV	RP11-379K17.4,non_coding_transcript_exon_variant,,ENST00000483289,;RP11-379K17.4,intron_variant,,ENST00000487580,;RP11-379K17.4,downstream_gene_variant,,ENST00000600502,;RP11-379K17.5,non_coding_transcript_exon_variant,,ENST00000494834,;	3302	74	62	SUCCESS
PLD1	5337	.	GRCh37	3	171395376	171395376	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	52	136	0	ENST00000351298.4:c.1976A>G	p.Gln659Arg	p.Q659R	ENST00000351298	NM_002662.4	659	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3216.1	1976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTTGAACC	NONE	.	.	hmmpanther:PTHR18896:SF57,hmmpanther:PTHR18896,PIRSF_domain:PIRSF009376	.	.	ENSP00000342793	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000351298	Transcript	.	.	ENSG00000075651	9067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	PLD1_HUMAN	PLD1	HGNC	C9IY79_HUMAN	.	UPI0000131BDC	SNV	PLD1,missense_variant,p.Gln621Arg,ENST00000356327,;PLD1,missense_variant,p.Gln659Arg,ENST00000340989,;PLD1,missense_variant,p.Asn550Asp,ENST00000342215,;PLD1,missense_variant,p.Gln659Arg,ENST00000351298,;PLD1,upstream_gene_variant,,ENST00000446289,;PLD1,non_coding_transcript_exon_variant,,ENST00000471075,;	2103	136	109	SUCCESS
TTC14	151613	.	GRCh37	3	180325722	180325722	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	13	0	ENST00000296015.4:c.1290+169G>T		p.*430*	ENST00000296015	NM_133462.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3237.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGTTTTT	NONE	.	.	.	.	.	ENSP00000296015	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	MODIFIER	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,3_prime_UTR_variant,,ENST00000412756,;TTC14,intron_variant,,ENST00000382584,;TTC14,intron_variant,,ENST00000296015,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000491380,;TTC14,downstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000489868,;TTC14,downstream_gene_variant,,ENST00000495660,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,3_prime_UTR_variant,,ENST00000470669,;TTC14,downstream_gene_variant,,ENST00000462895,;	.	13	13	SUCCESS
LAMP3	27074	.	GRCh37	3	182872047	182872047	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	55	194	2	ENST00000265598.3:c.182A>C	p.His61Pro	p.H61P	ENST00000265598	NM_014398.3	61	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS3242.1	182	RADIA|VARSCANS	.	TTTGGTGAGGT	NONE	.	.	PROSITE_profiles:PS51407	.	.	ENSP00000265598	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000265598	Transcript	.	.	ENSG00000078081	14582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.32)	.	LAMP3_HUMAN	LAMP3	HGNC	E7ETP9_HUMAN,C9JYP5_HUMAN,C9JDI8_HUMAN	.	UPI000006DB7A	SNV	LAMP3,missense_variant,p.His61Pro,ENST00000265598,;LAMP3,missense_variant,p.His37Pro,ENST00000470251,;LAMP3,missense_variant,p.His61Pro,ENST00000476015,;LAMP3,missense_variant,p.His37Pro,ENST00000466939,;LAMP3,downstream_gene_variant,,ENST00000486686,;	438	196	162	SUCCESS
ABCC5	10057	.	GRCh37	3	183689367	183689367	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	96	0	ENST00000334444.6:c.1745A>T	p.Asp582Val	p.D582V	ENST00000334444	NM_005688.2	582	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS43176.1	1745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGATCGATG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Pfam_domain:PF00005,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333926	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000334444	Transcript	.	.	ENSG00000114770	56	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.374)	.	tolerated(0.06)	.	MRP5_HUMAN	ABCC5	HGNC	C9JZL5_HUMAN	.	UPI000004A33C	SNV	ABCC5,missense_variant,p.Asp582Val,ENST00000265586,;ABCC5,missense_variant,p.Asp582Val,ENST00000334444,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;ABCC5,non_coding_transcript_exon_variant,,ENST00000476402,;	1986	96	48	SUCCESS
LEPREL1	0	.	GRCh37	3	189690681	189690681	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762755617	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	99	250	0	ENST00000319332.5:c.1681T>C	p.Cys561Arg	p.C561R	ENST00000319332	NM_018192.3	561	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS3294.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCAGACCA	NONE	.	.	PROSITE_profiles:PS51471,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1,SMART_domains:SM00702	.	.	ENSP00000316881	.	11/15	.	.	.	.	.	.	.	.	rs762755617	11/15	PASS	ENST00000319332	Transcript	.	.	ENSG00000090530	19317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	P3H2_HUMAN	LEPREL1	HGNC	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN	.	UPI000007460B	SNV	LEPREL1,missense_variant,p.Cys561Arg,ENST00000319332,;LEPREL1,missense_variant,p.Cys380Arg,ENST00000427335,;LEPREL1,non_coding_transcript_exon_variant,,ENST00000467131,;LEPREL1,non_coding_transcript_exon_variant,,ENST00000482780,;LEPREL1,downstream_gene_variant,,ENST00000470925,;LEPREL1,upstream_gene_variant,,ENST00000463171,;LEPREL1,downstream_gene_variant,,ENST00000475095,;MTAPP2,upstream_gene_variant,,ENST00000437063,;	1879	250	231	SUCCESS
LEPREL1	0	.	GRCh37	3	189838134	189838134	+	synonymous_variant	Silent	SNP	C	C	T	rs867307031	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	22	0	ENST00000319332.5:c.387G>A	p.Gly129=	p.G129=	ENST00000319332	NM_018192.3	129	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3294.1	387	MUTECT|MUSE	.	GGGCCCCCGAG	NONE	.	.	hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1	.	.	ENSP00000316881	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000319332	Transcript	.	.	ENSG00000090530	19317	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P3H2_HUMAN	LEPREL1	HGNC	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN	.	UPI000007460B	SNV	LEPREL1,synonymous_variant,p.%3D,ENST00000319332,;LEPREL1,intron_variant,,ENST00000426003,;LEPREL1,intron_variant,,ENST00000427335,;LEPREL1,upstream_gene_variant,,ENST00000444866,;LEPREL1-AS1,upstream_gene_variant,,ENST00000412203,;	585	22	21	SUCCESS
TMEM207	131920	.	GRCh37	3	190167645	190167645	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	82	0	ENST00000354905.2:c.-47T>C		p.*16*	ENST00000354905	NM_207316.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3297.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTATTTCC	NONE	.	.	.	.	.	ENSP00000346981	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000354905	Transcript	.	.	ENSG00000198398	33705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM207_HUMAN	TMEM207	HGNC	.	.	UPI0000048F12	SNV	TMEM207,5_prime_UTR_variant,,ENST00000354905,;	21	82	56	SUCCESS
IL1RAP	3556	.	GRCh37	3	190347188	190347188	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	84	267	2	ENST00000072516.3:c.952A>G	p.Ile318Val	p.I318V	ENST00000072516	NM_001167929.1	318	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS54696.1	952	RADIA|VARSCANS	.	TGAGCATCAAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR11890:SF21,hmmpanther:PTHR11890,PROSITE_profiles:PS50835	.	.	ENSP00000314807	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000317757	Transcript	.	.	ENSG00000196083	5995	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.43)	.	IL1AP_HUMAN	IL1RAP	HGNC	Q8N9C1_HUMAN,C9JT28_HUMAN,C9J1D9_HUMAN	.	UPI000020A9C1	SNV	IL1RAP,missense_variant,p.Ile155Val,ENST00000412080,;IL1RAP,missense_variant,p.Ile177Val,ENST00000434491,;IL1RAP,missense_variant,p.Ile318Val,ENST00000439062,;IL1RAP,missense_variant,p.Ile318Val,ENST00000422940,;IL1RAP,missense_variant,p.Ile318Val,ENST00000422485,;IL1RAP,missense_variant,p.Ile318Val,ENST00000317757,;IL1RAP,missense_variant,p.Ile318Val,ENST00000412504,;IL1RAP,missense_variant,p.Ile318Val,ENST00000072516,;IL1RAP,missense_variant,p.Ile318Val,ENST00000447382,;IL1RAP,missense_variant,p.Ile318Val,ENST00000443369,;IL1RAP,intron_variant,,ENST00000413869,;IL1RAP,intron_variant,,ENST00000342550,;GCNT1P3,downstream_gene_variant,,ENST00000450607,;	1158	270	226	SUCCESS
OPA1	4976	.	GRCh37	3	193332727	193332727	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	16	256	0	ENST00000392438.3:c.248A>T	p.Gln83Leu	p.Q83L	ENST00000392438	NM_015560.2	83	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33917.1	248	MUTECT|MUSE	.	CTACCAGCCTC	NONE	.	.	.	.	.	ENSP00000354681	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.14)	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,missense_variant,p.Gln83Leu,ENST00000392437,;OPA1,missense_variant,p.Gln83Leu,ENST00000361715,;OPA1,missense_variant,p.Gln83Leu,ENST00000361828,;OPA1,missense_variant,p.Gln83Leu,ENST00000392438,;OPA1,missense_variant,p.Gln83Leu,ENST00000361510,;OPA1,missense_variant,p.Gln83Leu,ENST00000392436,;OPA1,missense_variant,p.Gln83Leu,ENST00000361150,;OPA1,missense_variant,p.Gln83Leu,ENST00000361908,;OPA1,5_prime_UTR_variant,,ENST00000419435,;OPA1,upstream_gene_variant,,ENST00000434811,;OPA1-AS1,downstream_gene_variant,,ENST00000433105,;OPA1-AS1,downstream_gene_variant,,ENST00000444085,;OPA1,non_coding_transcript_exon_variant,,ENST00000487986,;OPA1,upstream_gene_variant,,ENST00000497189,;	482	256	224	SUCCESS
OPA1	4976	.	GRCh37	3	193374929	193374929	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	60	172	0	ENST00000392438.3:c.2074G>T	p.Glu692Ter	p.E692*	ENST00000392438	NM_015560.2	692	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33917.1	2185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGAGCAT	NONE	.	.	hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF12	.	.	ENSP00000354681	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,stop_gained,p.Glu693Ter,ENST00000361150,;OPA1,stop_gained,p.Glu711Ter,ENST00000361715,;OPA1,stop_gained,p.Glu729Ter,ENST00000361908,;OPA1,stop_gained,p.Glu710Ter,ENST00000361828,;OPA1,stop_gained,p.Glu692Ter,ENST00000392438,;OPA1,stop_gained,p.Glu747Ter,ENST00000361510,;OPA1,non_coding_transcript_exon_variant,,ENST00000482865,;	2419	172	123	SUCCESS
ACAP2	23527	.	GRCh37	3	195112843	195112843	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	439	271	736	1	ENST00000326793.6:c.87A>T	p.Ala29=	p.A29=	ENST00000326793	NM_012287.5	29	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33924.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGCCAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Superfamily_domains:SSF103657	.	.	ENSP00000324287	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,synonymous_variant,p.%3D,ENST00000326793,;ACAP2,intron_variant,,ENST00000439666,;ACAP2,non_coding_transcript_exon_variant,,ENST00000481463,;ACAP2,3_prime_UTR_variant,,ENST00000447662,;ACAP2,non_coding_transcript_exon_variant,,ENST00000480906,;	318	737	710	SUCCESS
MUC20	200958	.	GRCh37	3	195451813	195451813	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	274	46	558	0	ENST00000447234.2:c.339A>T	p.Ser113=	p.S113=	ENST00000447234	NM_001282506.1	113	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS63877.1	339	MUTECT|VARSCANS	.	ACATCAGCCGC	NONE	.	.	.	.	.	ENSP00000414350	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	SNV	MUC20,synonymous_variant,p.%3D,ENST00000445522,;MUC20,synonymous_variant,p.%3D,ENST00000447234,;MUC20,synonymous_variant,p.%3D,ENST00000320736,;MUC20,synonymous_variant,p.%3D,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,non_coding_transcript_exon_variant,,ENST00000599566,;LINC00969,non_coding_transcript_exon_variant,,ENST00000455807,;LINC00969,non_coding_transcript_exon_variant,,ENST00000600288,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000594976,;MUC20,non_coding_transcript_exon_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,;	465	558	320	SUCCESS
ITGA9	3680	.	GRCh37	3	37774280	37774280	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	56	83	0	ENST00000264741.5:c.2145A>C	p.Ser715=	p.S715=	ENST00000264741	NM_002207.2	715	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2669.1	2145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCAAAGTC	NONE	.	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179	.	.	ENSP00000264741	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,synonymous_variant,p.%3D,ENST00000264741,;ITGA9,non_coding_transcript_exon_variant,,ENST00000461533,;	2401	83	65	SUCCESS
SCN10A	6336	.	GRCh37	3	38766700	38766700	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	43	127	1	ENST00000449082.2:c.3193T>G	p.Trp1065Gly	p.W1065G	ENST00000449082	NM_006514.2	1065	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS33736.1	3193	RADIA|MUTECT|MUSE	.	TTTCCACGTCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Pfam_domain:PF06512	.	.	ENSP00000390600	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.37)	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Trp1065Gly,ENST00000449082,;	3193	128	56	SUCCESS
SCN11A	11280	.	GRCh37	3	38926834	38926834	+	synonymous_variant	Silent	SNP	A	A	G	rs985326131	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	94	131	1	ENST00000302328.3:c.3009T>C	p.Phe1003=	p.F1003=	ENST00000302328	NM_014139.2	1003	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS33737.1	3009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCAAAGCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Pfam_domain:PF06512	.	.	ENSP00000307599	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,synonymous_variant,p.%3D,ENST00000450244,;SCN11A,synonymous_variant,p.%3D,ENST00000302328,;SCN11A,synonymous_variant,p.%3D,ENST00000444237,;SCN11A,synonymous_variant,p.%3D,ENST00000456224,;	3208	132	108	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266123	41266150	+	protein_altering_variant	In_Frame_Del	DEL	TACCACAGCTCCTTCTCTGAGTGGTAAA	TACCACAGCTCCTTCTCTGAGTGGTAAA	AACC	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	TACCACAGCTCCTTCTCTGAGTGGTAAA	TACCACAGCTCCTTCTCTGAGTGGTAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	170	0	ENST00000349496.5:c.120_147delinsAACC	p.Thr42_Lys49del	p.T42_K49del	ENST00000349496	NM_001904.3	40	acTACCACAGCTCCTTCTCTGAGTGGTAAA/acAACC	0	.	.	.	.	.	AACC	TTTAPSLSGK/TT	protein_coding	YES	CCDS2694.1	120-147	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAA	CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T40I|c.119C>T|11,CODON|p.T41A|c.121A>G|828,CODON|p.T41S|c.121A>T|3,CODON|p.T41P|c.121A>C|6,CODON|p.T41S|c.122C>G|3,CODON|p.T41N|c.122C>A|7,CODON|p.T41I|c.122C>T|94,CODON|p.T41T|c.123C>T|3,CODON|p.T42fs*7|c.125_126delCA|3,CODON|p.T42I|c.125C>T|3,CODON|p.T42R|c.125C>G|5,CODON|p.T42T|c.126A>G|5,CODON|p.A43T|c.127G>A|4,CODON|p.A43V|c.128C>T|7,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44S|c.130C>T|5,CODON|p.P44A|c.130C>G|6,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45F|c.134C>T|518,CODON|p.S45Y|c.134C>A|27,CODON|p.S45C|c.134C>G|27,CODON|p.S45S|c.135T>C|3,CODON|p.L46P|c.137T>C|3,CODON|p.L46L|c.138G>A|3,CODON|p.S47G|c.139A>G|6,CODON|p.S47N|c.140G>A|3,CODON|p.G48D|c.143G>A|9,CODON|p.K49E|c.145A>G|3,CODON|p.K49R|c.146A>G|10,CODON|p.K49K|c.147A>G|3,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.G50D|c.149G>A|3,BUFFER|p.N51D|c.151A>G|4,BUFFER|p.E53K|c.157G>A|10	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	substitution	CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000349496,;CTNNB1,protein_altering_variant,p.Thr35_Lys42del,ENST00000426215,;CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000450969,;CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000431914,;CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000396185,;CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000405570,;CTNNB1,protein_altering_variant,p.Thr35_Lys42del,ENST00000453024,;CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000396183,;CTNNB1,protein_altering_variant,p.Thr42_Lys49del,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	400-427	170	35	SUCCESS
PRSS50	29122	.	GRCh37	3	46757130	46757130	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761616741	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	171	285	2	ENST00000315170.7:c.365G>T	p.Arg122Leu	p.R122L	ENST00000315170	NM_013270.4	122	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2745.1	365	RADIA|VARSCANS	.	ACCGCCGAGCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF6,hmmpanther:PTHR24259,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000418875	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000460241	Transcript	.	.	ENSG00000206549	17910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	TSP50_HUMAN	PRSS50	HGNC	B3KUP4_HUMAN	.	UPI0000037465	SNV	PRSS50,missense_variant,p.Arg122Leu,ENST00000315170,;PRSS50,missense_variant,p.Arg122Leu,ENST00000460241,;TMIE,downstream_gene_variant,,ENST00000326431,;PRSS46,downstream_gene_variant,,ENST00000463091,;	2036	287	202	SUCCESS
PTH1R	5745	.	GRCh37	3	46937344	46937344	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	84	119	0	ENST00000313049.5:c.298G>T	p.Gly100Cys	p.G100C	ENST00000313049		100	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS2747.1	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGGCAGC	NONE	.	.	PROSITE_profiles:PS50227,hmmpanther:PTHR12011:SF24,hmmpanther:PTHR12011	.	.	ENSP00000321999	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000313049	Transcript	.	.	ENSG00000160801	9608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated(0.05)	.	PTH1R_HUMAN	PTH1R	HGNC	Q71UK6_HUMAN,E7EWE7_HUMAN	.	UPI000005041F	SNV	PTH1R,missense_variant,p.Gly100Cys,ENST00000449590,;PTH1R,missense_variant,p.Gly100Cys,ENST00000313049,;PTH1R,missense_variant,p.Gly100Cys,ENST00000430002,;PTH1R,missense_variant,p.Gly100Cys,ENST00000427125,;PTH1R,missense_variant,p.Gly100Cys,ENST00000418619,;PTH1R,non_coding_transcript_exon_variant,,ENST00000490109,;PTH1R,missense_variant,p.Gly100Cys,ENST00000428220,;	501	119	94	SUCCESS
NBEAL2	23218	.	GRCh37	3	47042832	47042832	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	35	52	0	ENST00000450053.3:c.4548G>T	p.Leu1516=	p.L1516=	ENST00000450053	NM_015175.2	1516	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46817.1	4548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGGCCAG	NONE	.	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	.	ENSP00000415034	.	29/54	.	.	.	.	.	.	.	.	.	29/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,synonymous_variant,p.%3D,ENST00000450053,;NBEAL2,synonymous_variant,p.%3D,ENST00000292309,;NBEAL2,synonymous_variant,p.%3D,ENST00000416683,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;	4727	52	40	SUCCESS
CCDC36	0	.	GRCh37	3	49293846	49293846	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1405932947	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	49	74	1	ENST00000438782.1:c.916T>C	p.Trp306Arg	p.W306R	ENST00000438782		306	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS33755.2	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATGGAAT	NONE	.	.	.	.	.	ENSP00000391788	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000438782	Transcript	.	.	ENSG00000173421	27945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	CCD36_HUMAN	CCDC36	HGNC	.	.	UPI0000209CD2	SNV	CCDC36,missense_variant,p.Trp306Arg,ENST00000438782,;CCDC36,missense_variant,p.Trp306Arg,ENST00000296449,;CCDC36,missense_variant,p.Trp306Arg,ENST00000452691,;RP11-3B7.1,upstream_gene_variant,,ENST00000440528,;RP11-3B7.7,upstream_gene_variant,,ENST00000604776,;	1152	75	57	SUCCESS
STAB1	23166	.	GRCh37	3	52554842	52554842	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757142553	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	28	51	0	ENST00000321725.6:c.5729G>T	p.Arg1910Leu	p.R1910L	ENST00000321725	NM_015136.2	1910	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS33768.1	5729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCTTCT	NONE	.	.	hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	55/69	.	.	.	.	.	.	.	.	rs757142553,COSM3408796	55/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.079)	.	tolerated(0.44)	0,1	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Arg1910Leu,ENST00000321725,;NT5DC2,downstream_gene_variant,,ENST00000459839,;NT5DC2,downstream_gene_variant,,ENST00000422318,;NT5DC2,downstream_gene_variant,,ENST00000307076,;NT5DC2,downstream_gene_variant,,ENST00000307092,;STAB1,upstream_gene_variant,,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000463947,;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,;STAB1,downstream_gene_variant,,ENST00000461325,;NT5DC2,downstream_gene_variant,,ENST00000492555,;NT5DC2,downstream_gene_variant,,ENST00000479024,;STAB1,upstream_gene_variant,,ENST00000462741,;NT5DC2,downstream_gene_variant,,ENST00000462261,;NT5DC2,downstream_gene_variant,,ENST00000478091,;STAB1,upstream_gene_variant,,ENST00000462681,;NT5DC2,downstream_gene_variant,,ENST00000466112,;NT5DC2,downstream_gene_variant,,ENST00000469616,;	5805	51	37	SUCCESS
CACNA1D	776	.	GRCh37	3	53700544	53700544	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	114	0	ENST00000350061.5:c.1098G>A	p.Trp366Ter	p.W366*	ENST00000350061	NM_001128840.2	366	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS2872.1	1098	MUTECT|MUSE	.	GGCTGGACAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF139,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000288139	.	7/49	.	.	.	.	.	.	.	.	.	7/49	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,stop_gained,p.Trp52Ter,ENST00000481085,;CACNA1D,stop_gained,p.Trp366Ter,ENST00000288139,;CACNA1D,stop_gained,p.Trp366Ter,ENST00000422281,;CACNA1D,stop_gained,p.Trp366Ter,ENST00000350061,;CACNA1D,stop_gained,p.Trp39Ter,ENST00000481478,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000464429,;	1216	114	120	SUCCESS
LRTM1	57408	.	GRCh37	3	54958771	54958771	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	114	178	0	ENST00000273286.5:c.479A>T	p.Gln160Leu	p.Q160L	ENST00000273286	NM_020678.2	160	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2876.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTGCTGA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24369:SF18,hmmpanther:PTHR24369,PROSITE_profiles:PS51450	.	.	ENSP00000273286	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000273286	Transcript	.	.	ENSG00000144771	25023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.09)	.	LRTM1_HUMAN	LRTM1	HGNC	.	.	UPI000006CEEC	SNV	LRTM1,missense_variant,p.Gln160Leu,ENST00000273286,;LRTM1,missense_variant,p.Gln84Leu,ENST00000493075,;CACNA2D3,intron_variant,,ENST00000474759,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,intron_variant,,ENST00000471363,;	642	179	129	SUCCESS
KBTBD8	84541	.	GRCh37	3	67048735	67048735	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	53	168	0	ENST00000417314.2:c.-45T>C		p.*15*	ENST00000417314				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2906.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAATGACAT	NONE	.	.	.	.	.	ENSP00000401878	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000417314	Transcript	.	.	ENSG00000163376	30691	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTB8_HUMAN	KBTBD8	HGNC	C9JAA6_HUMAN,C9J331_HUMAN	.	UPI0000209974	SNV	KBTBD8,5_prime_UTR_variant,,ENST00000417314,;KBTBD8,5_prime_UTR_variant,,ENST00000460576,;KBTBD8,5_prime_UTR_variant,,ENST00000484414,;KBTBD8,5_prime_UTR_variant,,ENST00000295568,;KBTBD8,upstream_gene_variant,,ENST00000460784,;KBTBD8,non_coding_transcript_exon_variant,,ENST00000469661,;	5	168	221	SUCCESS
KBTBD8	84541	.	GRCh37	3	67049479	67049479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	85	192	0	ENST00000417314.2:c.91C>T	p.His31Tyr	p.H31Y	ENST00000417314		31	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS2906.2	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCATGCT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000401878	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000417314	Transcript	.	.	ENSG00000163376	30691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.48)	.	KBTB8_HUMAN	KBTBD8	HGNC	C9JAA6_HUMAN,C9J331_HUMAN	.	UPI0000209974	SNV	KBTBD8,missense_variant,p.His31Tyr,ENST00000417314,;KBTBD8,missense_variant,p.His5Tyr,ENST00000460784,;KBTBD8,missense_variant,p.His5Tyr,ENST00000295568,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,intron_variant,,ENST00000484414,;KBTBD8,non_coding_transcript_exon_variant,,ENST00000469661,;	140	192	246	SUCCESS
TMF1	7110	.	GRCh37	3	69097054	69097054	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762003130	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	54	0	ENST00000398559.2:c.802A>G	p.Ile268Val	p.I268V	ENST00000398559		268	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43105.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTATTACAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285	.	.	ENSP00000381567	.	2/17	.	.	.	.	.	.	.	.	rs762003130	2/17	PASS	ENST00000398559	Transcript	.	.	ENSG00000144747	11870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated_low_confidence(0.05)	.	TMF1_HUMAN	TMF1	HGNC	.	.	UPI000013D9A7	SNV	TMF1,missense_variant,p.Ile268Val,ENST00000398559,;TMF1,missense_variant,p.Ile268Val,ENST00000543976,;MIR3136,downstream_gene_variant,,ENST00000583498,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000596732,;CTD-2013N24.2,intron_variant,,ENST00000598783,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,intron_variant,,ENST00000596274,;TMF1,missense_variant,p.Ile268Val,ENST00000488010,;TMF1,upstream_gene_variant,,ENST00000477872,;	1019	54	66	SUCCESS
ROBO2	6092	.	GRCh37	3	77629214	77629214	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	97	131	0	ENST00000461745.1:c.2445A>T	p.Ala815=	p.A815=	ENST00000461745	NM_002942.4	815	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54609.1	2493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCAGCTAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,synonymous_variant,p.%3D,ENST00000332191,;ROBO2,synonymous_variant,p.%3D,ENST00000602589,;ROBO2,synonymous_variant,p.%3D,ENST00000461745,;ROBO2,synonymous_variant,p.%3D,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2772	132	163	SUCCESS
ROBO1	6091	.	GRCh37	3	78684981	78684981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	85	258	0	ENST00000464233.1:c.3315G>T	p.Gln1105His	p.Q1105H	ENST00000464233	NM_002941.3	1105	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS54611.1	3315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCTGCTG	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489	.	.	ENSP00000420321	.	23/31	.	.	.	.	.	.	.	.	.	23/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0.02)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Gln1105His,ENST00000464233,;ROBO1,missense_variant,p.Gln1060His,ENST00000495273,;ROBO1,missense_variant,p.Gln1066His,ENST00000436010,;ROBO1,missense_variant,p.Gln1005His,ENST00000467549,;ROBO1,upstream_gene_variant,,ENST00000472273,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	3429	258	293	SUCCESS
ROBO1	6091	.	GRCh37	3	78711213	78711213	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	77	215	0	ENST00000464233.1:c.2018T>A	p.Leu673Gln	p.L673Q	ENST00000464233	NM_002941.3	673	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS54611.1	2018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCAGCTCT	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489	.	.	ENSP00000420321	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Leu673Gln,ENST00000464233,;ROBO1,missense_variant,p.Leu637Gln,ENST00000495273,;ROBO1,missense_variant,p.Leu634Gln,ENST00000436010,;ROBO1,missense_variant,p.Leu637Gln,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	2132	215	261	SUCCESS
EPHA6	285220	.	GRCh37	3	96585699	96585699	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745907900	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	279	188	499	1	ENST00000389672.5:c.416G>A	p.Gly139Glu	p.G139E	ENST00000389672	NM_001080448.2	139	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS46876.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGAGAGC	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000374323	.	2/18	.	.	.	.	.	.	.	.	rs745907900	2/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Gly84Glu,ENST00000506569,;EPHA6,missense_variant,p.Gly139Glu,ENST00000389672,;EPHA6,missense_variant,p.Gly45Glu,ENST00000542517,;EPHA6,missense_variant,p.Gly139Glu,ENST00000470610,;	454	501	467	SUCCESS
IL17RC	84818	.	GRCh37	3	9974301	9974301	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	120	193	2	ENST00000295981.3:c.1610A>G	p.Lys537Arg	p.K537R	ENST00000295981	NM_153461.3	537	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2590.1	1610	RADIA|SOMATICSNIPER|VARSCANS	.	CCACAAGCGCT	NONE	.	.	hmmpanther:PTHR15583:SF9,hmmpanther:PTHR15583	.	.	ENSP00000295981	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000295981	Transcript	.	.	ENSG00000163702	18358	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.64)	.	I17RC_HUMAN	IL17RC	HGNC	.	.	UPI000013E2E3	SNV	IL17RC,missense_variant,p.Lys466Arg,ENST00000403601,;IL17RC,missense_variant,p.Lys434Arg,ENST00000455057,;IL17RC,missense_variant,p.Lys451Arg,ENST00000383812,;IL17RC,missense_variant,p.Lys466Arg,ENST00000413608,;IL17RC,missense_variant,p.Lys537Arg,ENST00000295981,;IL17RC,missense_variant,p.Lys305Arg,ENST00000416074,;CRELD1,upstream_gene_variant,,ENST00000452070,;IL17RC,downstream_gene_variant,,ENST00000436503,;CRELD1,upstream_gene_variant,,ENST00000326434,;IL17RC,downstream_gene_variant,,ENST00000438091,;CRELD1,upstream_gene_variant,,ENST00000383811,;CRELD1,upstream_gene_variant,,ENST00000397170,;RP11-1020A11.1,upstream_gene_variant,,ENST00000602411,;IL17RC,non_coding_transcript_exon_variant,,ENST00000498214,;IL17RC,3_prime_UTR_variant,,ENST00000451231,;IL17RC,3_prime_UTR_variant,,ENST00000451271,;IL17RC,non_coding_transcript_exon_variant,,ENST00000497387,;IL17RC,non_coding_transcript_exon_variant,,ENST00000466046,;IL17RC,non_coding_transcript_exon_variant,,ENST00000483582,;IL17RC,non_coding_transcript_exon_variant,,ENST00000466712,;IL17RC,non_coding_transcript_exon_variant,,ENST00000465794,;IL17RC,non_coding_transcript_exon_variant,,ENST00000464406,;IL17RC,non_coding_transcript_exon_variant,,ENST00000494365,;IL17RC,non_coding_transcript_exon_variant,,ENST00000461995,;CRELD1,upstream_gene_variant,,ENST00000465716,;IL17RC,downstream_gene_variant,,ENST00000412901,;CRELD1,upstream_gene_variant,,ENST00000491527,;CRELD1,upstream_gene_variant,,ENST00000414117,;IL17RC,downstream_gene_variant,,ENST00000434756,;	1828	195	141	SUCCESS
BANK1	55024	.	GRCh37	4	102783820	102783820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs758665686	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	61	175	0	ENST00000322953.4:c.762A>T	p.Leu254Phe	p.L254F	ENST00000322953	NM_017935.4	254	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS34038.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTAGGTAA	NONE	byFrequency	.	Pfam_domain:PF14545,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF10,PROSITE_profiles:PS51376	.	.	ENSP00000320509	.	4/17	.	.	.	.	.	.	.	.	rs758665686	4/17	PASS	ENST00000322953	Transcript	1	.	ENSG00000153064	18233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.02)	.	BANK1_HUMAN	BANK1	HGNC	.	.	UPI0000D6159D	SNV	BANK1,missense_variant,p.Leu121Phe,ENST00000508653,;BANK1,missense_variant,p.Leu121Phe,ENST00000428908,;BANK1,missense_variant,p.Leu239Phe,ENST00000504592,;BANK1,missense_variant,p.Leu224Phe,ENST00000444316,;BANK1,missense_variant,p.Leu254Phe,ENST00000322953,;	1036	175	152	SUCCESS
CENPE	1062	.	GRCh37	4	104119506	104119506	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs769721702	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	69	0	ENST00000265148.3:c.-30A>T		p.*10*	ENST00000265148	NM_001813.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34042.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATGGCCA	NONE	byFrequency	.	.	.	.	ENSP00000265148	.	1/49	.	.	.	.	.	.	.	.	rs769721702	1/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,5_prime_UTR_variant,,ENST00000503705,;CENPE,5_prime_UTR_variant,,ENST00000380026,;CENPE,5_prime_UTR_variant,,ENST00000265148,;CENPE,5_prime_UTR_variant,,ENST00000514974,;	61	69	58	SUCCESS
LRIT3	345193	.	GRCh37	4	110772808	110772808	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	128	0	ENST00000594814.1:c.265A>T	p.Thr89Ser	p.T89S	ENST00000594814	NM_198506.4	89	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3688.3	265	MUTECT|MUSE	.	GGGTGACTTAC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF236,hmmpanther:PTHR24367,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000469759	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000594814	Transcript	1	.	ENSG00000183423	24783	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.395)	.	tolerated(0.22)	.	LRIT3_HUMAN	LRIT3	HGNC	.	.	UPI0000F07E94	SNV	LRIT3,missense_variant,p.Thr44Ser,ENST00000379920,;LRIT3,missense_variant,p.Thr89Ser,ENST00000594814,;LRIT3,5_prime_UTR_variant,,ENST00000327908,;	265	128	120	SUCCESS
EGF	1950	.	GRCh37	4	110904598	110904598	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	114	0	ENST00000265171.5:c.2392A>G	p.Asn798Asp	p.N798D	ENST00000265171	NM_001963.4	798	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3689.1	2392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGAACCAA	NONE	.	.	PIRSF_domain:PIRSF001778,hmmpanther:PTHR10529	.	.	ENSP00000265171	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.29)	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,missense_variant,p.Asn798Asp,ENST00000503392,;EGF,missense_variant,p.Asn798Asp,ENST00000265171,;EGF,missense_variant,p.Asn756Asp,ENST00000509793,;EGF,non_coding_transcript_exon_variant,,ENST00000509996,;EGF,non_coding_transcript_exon_variant,,ENST00000511228,;	2837	114	103	SUCCESS
QRFPR	84109	.	GRCh37	4	122301943	122301943	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	17	0	ENST00000394427.2:c.-141T>A		p.*47*	ENST00000394427	NM_198179.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3719.1	.	MUTECT|MUSE	.	GCTCTAGGCTG	NONE	.	.	.	.	.	ENSP00000377948	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,5_prime_UTR_variant,,ENST00000394427,;QRFPR,upstream_gene_variant,,ENST00000334383,;QRFPR,non_coding_transcript_exon_variant,,ENST00000512235,;QRFPR,upstream_gene_variant,,ENST00000507331,;	272	17	18	SUCCESS
ANKRD50	57182	.	GRCh37	4	125592808	125592808	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	132	0	ENST00000504087.1:c.1624G>T	p.Asp542Tyr	p.D542Y	ENST00000504087	NM_020337.2	542	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34060.1	1624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATCACACT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000425658	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000504087	Transcript	.	.	ENSG00000151458	29223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ANR50_HUMAN	ANKRD50	HGNC	Q8TB46_HUMAN	.	UPI00002377E8	SNV	ANKRD50,missense_variant,p.Asp542Tyr,ENST00000504087,;ANKRD50,missense_variant,p.Asp363Tyr,ENST00000515641,;	2662	132	131	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121999	135121999	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	76	0	ENST00000421491.3:c.176T>A	p.Leu59Ter	p.L59*	ENST00000421491		59	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	.	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAAGAAG	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252,PROSITE_profiles:PS50102	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,stop_gained,p.Leu59Ter,ENST00000421491,;PABPC4L,stop_gained,p.Leu117Ter,ENST00000529122,;	433	76	66	SUCCESS
MAML3	55534	.	GRCh37	4	140651774	140651774	+	synonymous_variant	Silent	SNP	G	G	T	rs372122289	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	59	87	0	ENST00000509479.2:c.2127C>A	p.Ser709=	p.S709=	ENST00000509479	NM_018717.4	709	tcC/tcA	0	A:0	.	.	.	.	T	S	protein_coding	YES	CCDS54805.1	2127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGAGGACTG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8	.	A:0.0004	ENSP00000421180	.	3/5	.	.	.	.	.	.	.	.	rs372122289	3/5	PASS	ENST00000509479	Transcript	.	.	ENSG00000196782	16272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAML3_HUMAN	MAML3	HGNC	Q9NPV6_HUMAN,E7EVW8_HUMAN	.	UPI00001C1E1E	SNV	MAML3,synonymous_variant,p.%3D,ENST00000509479,;MAML3,synonymous_variant,p.%3D,ENST00000502696,;MGST2,intron_variant,,ENST00000515137,;MGST2,3_prime_UTR_variant,,ENST00000503816,;	2984	87	104	SUCCESS
ZNF330	27309	.	GRCh37	4	142145639	142145639	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	143	325	0	ENST00000262990.4:c.121-2A>T		p.X41_splice	ENST00000262990	NM_014487.4	41		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3754.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACAGGAAT	NONE	.	.	.	.	.	ENSP00000262990	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262990	Transcript	.	.	ENSG00000109445	15462	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN330_HUMAN	ZNF330	HGNC	D6RBS7_HUMAN,D6RBR7_HUMAN,D6R9C8_HUMAN,D6R8Y9_HUMAN	.	UPI000006E4AB	SNV	ZNF330,splice_acceptor_variant,,ENST00000512738,;ZNF330,splice_acceptor_variant,,ENST00000503649,;ZNF330,splice_acceptor_variant,,ENST00000421169,;ZNF330,splice_acceptor_variant,,ENST00000262990,;ZNF330,splice_acceptor_variant,,ENST00000512809,;ZNF330,splice_acceptor_variant,,ENST00000507532,;ZNF330,splice_acceptor_variant,,ENST00000506302,;ZNF330,downstream_gene_variant,,ENST00000514826,;ZNF330,downstream_gene_variant,,ENST00000515453,;	.	325	328	SUCCESS
INPP4B	8821	.	GRCh37	4	142949992	142949992	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	43	106	0	ENST00000262992.4:c.2718G>T	p.Met906Ile	p.M906I	ENST00000262992	NM_001101669.1	906	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3757.1	2718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCCATCAG	NONE	.	.	hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.15)	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,missense_variant,p.Met906Ile,ENST00000262992,;INPP4B,missense_variant,p.Met906Ile,ENST00000508116,;INPP4B,missense_variant,p.Met906Ile,ENST00000513000,;INPP4B,missense_variant,p.Met906Ile,ENST00000308502,;INPP4B,downstream_gene_variant,,ENST00000509777,;	3152	106	83	SUCCESS
MAB21L2	10586	.	GRCh37	4	151504564	151504564	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	54	0	ENST00000317605.4:c.383T>C	p.Ile128Thr	p.I128T	ENST00000317605	NM_006439.4	128	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3774.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATCCGCT	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656:SF37,hmmpanther:PTHR10656	.	.	ENSP00000324701	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317605	Transcript	1	.	ENSG00000181541	6758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.02)	.	MB212_HUMAN	MAB21L2	HGNC	.	.	UPI000007290D	SNV	MAB21L2,missense_variant,p.Ile128Thr,ENST00000317605,;LRBA,intron_variant,,ENST00000510413,;LRBA,intron_variant,,ENST00000509835,;LRBA,intron_variant,,ENST00000535741,;LRBA,intron_variant,,ENST00000357115,;LRBA,intron_variant,,ENST00000507224,;RP11-1336O20.2,downstream_gene_variant,,ENST00000507934,;LRBA,intron_variant,,ENST00000513021,;LRBA,upstream_gene_variant,,ENST00000503716,;	1488	54	55	SUCCESS
ARFIP1	27236	.	GRCh37	4	153802126	153802126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	125	355	2	ENST00000353617.2:c.423G>T	p.Gln141His	p.Q141H	ENST00000353617	NM_001025593.1	141	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS34080.1	423	RADIA|VARSCANS	.	CGACAGATTAT	NONE	.	.	SMART_domains:SM01015,Pfam_domain:PF06456,hmmpanther:PTHR12141:SF4,hmmpanther:PTHR12141	.	.	ENSP00000395083	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000451320	Transcript	.	.	ENSG00000164144	21496	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ARFP1_HUMAN	ARFIP1	HGNC	B7ZA10_HUMAN,B4E273_HUMAN	.	UPI0000125668	SNV	ARFIP1,missense_variant,p.Gln141His,ENST00000451320,;ARFIP1,missense_variant,p.Gln109His,ENST00000356064,;ARFIP1,missense_variant,p.Gln109His,ENST00000405727,;ARFIP1,missense_variant,p.Gln141His,ENST00000353617,;ARFIP1,intron_variant,,ENST00000429148,;ARFIP1,non_coding_transcript_exon_variant,,ENST00000511289,;ARFIP1,non_coding_transcript_exon_variant,,ENST00000513361,;ARFIP1,upstream_gene_variant,,ENST00000514499,;	587	358	320	SUCCESS
DCHS2	54798	.	GRCh37	4	155156385	155156385	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs147174513	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	87	0	ENST00000357232.4:c.8054A>T	p.Asp2685Val	p.D2685V	ENST00000357232	NM_017639.3	2685	gAc/gTc	0	A:0	.	.	.	.	A	D/V	protein_coding	YES	CCDS3785.1	8054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGTCTGAG	BUFFER|p.C2689R|c.8065T>C|3	byCluster	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257	.	A:0.0001	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	rs147174513	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Asp2685Val,ENST00000357232,;	8054	87	94	SUCCESS
DCHS2	54798	.	GRCh37	4	155226268	155226268	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	93	0	ENST00000357232.4:c.4011A>G	p.Gln1337=	p.Q1337=	ENST00000357232	NM_017639.3	1337	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS3785.1	4011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTTGAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000357232,;	4011	93	91	SUCCESS
GRIA2	2891	.	GRCh37	4	158142912	158142912	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	50	124	1	ENST00000264426.9:c.182A>G	p.His61Arg	p.H61R	ENST00000264426	NM_001083619.1	61	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS3797.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCACATCG	NONE	.	.	Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000296526	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	tolerated(0.24)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.His14Arg,ENST00000505888,;GRIA2,missense_variant,p.His61Arg,ENST00000509417,;GRIA2,missense_variant,p.His61Arg,ENST00000264426,;GRIA2,missense_variant,p.His14Arg,ENST00000507898,;GRIA2,missense_variant,p.His14Arg,ENST00000506284,;GRIA2,missense_variant,p.His14Arg,ENST00000393815,;GRIA2,missense_variant,p.His61Arg,ENST00000296526,;GRIA2,missense_variant,p.His14Arg,ENST00000449365,;GRIA2,downstream_gene_variant,,ENST00000512774,;GRIA2,intron_variant,,ENST00000504801,;GRIA2,missense_variant,p.His14Arg,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	507	125	113	SUCCESS
FGFBP1	9982	.	GRCh37	4	15938116	15938116	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	121	138	0	ENST00000382333.1:c.140A>T	p.Gln47Leu	p.Q47L	ENST00000382333	NM_005130.4	47	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3418.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCTGGGTG	NONE	.	.	hmmpanther:PTHR15258:SF2,hmmpanther:PTHR15258,Pfam_domain:PF06473	.	.	ENSP00000371770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000382333	Transcript	.	.	ENSG00000137440	19695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	tolerated(0.06)	.	FGFP1_HUMAN	FGFBP1	HGNC	.	.	UPI000004A926	SNV	FGFBP1,missense_variant,p.Gln47Leu,ENST00000259988,;FGFBP1,missense_variant,p.Gln47Leu,ENST00000382333,;	435	138	205	SUCCESS
SPOCK3	50859	.	GRCh37	4	168155255	168155255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	117	1	ENST00000357154.3:c.70G>T	p.Ala24Ser	p.A24S	ENST00000357154	NM_016950.2	24	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS54817.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGCGGCAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4	.	.	ENSP00000349677	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	tolerated_low_confidence(0.48)	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,missense_variant,p.Ala24Ser,ENST00000512648,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000512042,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000357154,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000511531,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000357545,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000506886,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000510403,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000511269,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000510741,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000509854,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000506697,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000541637,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000512681,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000502330,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000504953,;SPOCK3,5_prime_UTR_variant,,ENST00000421836,;SPOCK3,5_prime_UTR_variant,,ENST00000541354,;SPOCK3,upstream_gene_variant,,ENST00000535728,;SPOCK3,upstream_gene_variant,,ENST00000534949,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000507086,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000502821,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000511905,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000505187,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000515316,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000502741,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000507370,;SPOCK3,missense_variant,p.Ala24Ser,ENST00000511226,;SPOCK3,upstream_gene_variant,,ENST00000515143,;	208	118	101	SUCCESS
ASB5	140458	.	GRCh37	4	177142394	177142394	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	152	409	2	ENST00000296525.3:c.582T>C	p.Val194=	p.V194=	ENST00000296525	NM_080874.3	194	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS3827.1	582	RADIA|VARSCANS	.	TGGTCAACATC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000296525	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296525	Transcript	.	.	ENSG00000164122	17180	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASB5_HUMAN	ASB5	HGNC	Q5HYF3_HUMAN,D6R9Q2_HUMAN	.	UPI00000015CF	SNV	ASB5,synonymous_variant,p.%3D,ENST00000296525,;ASB5,synonymous_variant,p.%3D,ENST00000512254,;ASB5,downstream_gene_variant,,ENST00000511879,;ASB5,downstream_gene_variant,,ENST00000510578,;	696	412	376	SUCCESS
DCAF16	54876	.	GRCh37	4	17805890	17805890	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs189326181	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	59	80	0	ENST00000382247.1:c.-126G>T		p.*42*	ENST00000382247	NM_017741.3			0	.	A:0	.	A:0.0043	.	A	.	protein_coding	YES	CCDS3423.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTCCGTTA	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000371682	A:0.001	3/3	.	.	.	.	.	.	.	.	rs189326181	3/3	PASS	ENST00000382247	Transcript	.	A:0.0008	ENSG00000163257	25987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DCA16_HUMAN	DCAF16	HGNC	.	.	UPI000006D3DE	SNV	DCAF16,5_prime_UTR_variant,,ENST00000382247,;DCAF16,5_prime_UTR_variant,,ENST00000536863,;DCAF16,downstream_gene_variant,,ENST00000507768,;	936	80	109	SUCCESS
TENM3	55714	.	GRCh37	4	183659668	183659668	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1290685286	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	82	0	ENST00000511685.1:c.3350A>G	p.Asp1117Gly	p.D1117G	ENST00000511685		1117	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47165.1	3350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGATAAAC	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Asp1117Gly,ENST00000511685,;TENM3,missense_variant,p.Asp1117Gly,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	3473	82	82	SUCCESS
TLR3	7098	.	GRCh37	4	186997908	186997908	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	128	0	ENST00000296795.3:c.135A>C	p.Val45=	p.V45=	ENST00000296795	NM_003265.2	45	gtA/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3846.1	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTACCCGA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000296795	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000296795	Transcript	1	.	ENSG00000164342	11849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR3_HUMAN	TLR3	HGNC	E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN	.	UPI0000049B3E	SNV	TLR3,synonymous_variant,p.%3D,ENST00000513189,;TLR3,synonymous_variant,p.%3D,ENST00000296795,;TLR3,upstream_gene_variant,,ENST00000504367,;TLR3,upstream_gene_variant,,ENST00000508051,;TLR3,upstream_gene_variant,,ENST00000512264,;	239	128	100	SUCCESS
SLIT2	9353	.	GRCh37	4	20255500	20255500	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1489371040	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	16	0	ENST00000504154.1:c.62A>G	p.Asn21Ser	p.N21S	ENST00000504154	NM_004787.1	21	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3426.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAACAAGG	NONE	.	.	.	.	.	ENSP00000422591	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.58)	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.Asn21Ser,ENST00000273739,;SLIT2,missense_variant,p.Asn21Ser,ENST00000504154,;SLIT2,missense_variant,p.Asn21Ser,ENST00000503823,;SLIT2,missense_variant,p.Asn21Ser,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000508824,;	314	16	41	SUCCESS
SLIT2	9353	.	GRCh37	4	20525440	20525440	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	13	186	0	ENST00000504154.1:c.1188C>A	p.His396Gln	p.H396Q	ENST00000504154	NM_004787.1	396	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS3426.1	1188	MUTECT|MUSE	.	CTCCACAACTT	NONE	.	.	hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	13/37	.	.	.	.	.	.	.	.	.	13/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(1)	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.His400Gln,ENST00000273739,;SLIT2,missense_variant,p.His396Gln,ENST00000504154,;SLIT2,missense_variant,p.His396Gln,ENST00000503823,;SLIT2,missense_variant,p.His400Gln,ENST00000503837,;MIR218-1,upstream_gene_variant,,ENST00000384999,;	1440	186	228	SUCCESS
SEPSECS	51091	.	GRCh37	4	25160667	25160667	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	136	181	0	ENST00000382103.2:c.177A>C	p.Ala59=	p.A59=	ENST00000382103	NM_016955.3	59	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3432.2	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATTGCAAG	NONE	.	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF017689,TIGRFAM_domain:TIGR03531,hmmpanther:PTHR12944	.	.	ENSP00000371535	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000382103	Transcript	1	.	ENSG00000109618	30605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPCS_HUMAN	SEPSECS	HGNC	A1A4F3_HUMAN	.	UPI000020BDD0	SNV	SEPSECS,synonymous_variant,p.%3D,ENST00000513285,;SEPSECS,synonymous_variant,p.%3D,ENST00000382103,;SEPSECS,intron_variant,,ENST00000302922,;PI4K2B,upstream_gene_variant,,ENST00000512921,;PI4K2B,upstream_gene_variant,,ENST00000507794,;PI4K2B,upstream_gene_variant,,ENST00000510415,;SEPSECS,missense_variant,p.Gln105Pro,ENST00000358971,;SEPSECS,intron_variant,,ENST00000514585,;SEPSECS,upstream_gene_variant,,ENST00000503150,;SEPSECS,upstream_gene_variant,,ENST00000505513,;	250	181	231	SUCCESS
FAM86EP	348926	.	GRCh37	4	3949736	3949736	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	35	49	0	ENST00000313946.8:n.367A>T		p.*123*	ENST00000313946				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTGGTGG	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000313946	Transcript	.	.	ENSG00000251669	28017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM86EP	HGNC	.	.	.	SNV	FAM86EP,splice_acceptor_variant,,ENST00000512092,;AC226119.5,splice_acceptor_variant,,ENST00000281228,;FAM86EP,splice_acceptor_variant,,ENST00000506770,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000502255,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000313946,;FAM86EP,intron_variant,,ENST00000511488,;AC226119.5,intron_variant,,ENST00000514073,;FAM86EP,intron_variant,,ENST00000507301,;FAM86EP,intron_variant,,ENST00000510565,;FAM86EP,downstream_gene_variant,,ENST00000504375,;FAM86EP,splice_acceptor_variant,,ENST00000510506,;	367	49	70	SUCCESS
PDGFRA	5156	.	GRCh37	4	55152024	55152024	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	47	0	ENST00000257290.5:c.2456T>G	p.Leu819Arg	p.L819R	ENST00000257290	NM_006206.4	819	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS3495.1	2456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCTGGCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000257290	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	FIP1L1,missense_variant,p.Leu579Arg,ENST00000507166,;PDGFRA,missense_variant,p.Leu819Arg,ENST00000257290,;PDGFRA,downstream_gene_variant,,ENST00000507536,;PDGFRA,downstream_gene_variant,,ENST00000509490,;	2787	47	48	SUCCESS
KIT	3815	.	GRCh37	4	55564702	55564702	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	96	0	ENST00000288135.5:c.590C>A	p.Ser197Ter	p.S197*	ENST00000288135	NM_000222.2	197	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS3496.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCGGAAA	NONE	.	.	Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951	.	.	ENSP00000288135	.	3/21	.	.	.	.	.	.	.	.	COSM1319328	3/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,stop_gained,p.Ser197Ter,ENST00000412167,;KIT,stop_gained,p.Ser197Ter,ENST00000288135,;KIT,downstream_gene_variant,,ENST00000514582,;	687	96	71	SUCCESS
EVC2	132884	.	GRCh37	4	5578129	5578129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	35	59	0	ENST00000344408.5:c.3110C>T	p.Ala1037Val	p.A1037V	ENST00000344408	NM_147127.4	1037	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3382.2	3110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.16)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Ala1037Val,ENST00000344938,;EVC2,missense_variant,p.Ala957Val,ENST00000310917,;EVC2,missense_variant,p.Ala1037Val,ENST00000344408,;EVC2,missense_variant,p.Ala957Val,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	3164	59	68	SUCCESS
KDR	3791	.	GRCh37	4	55973948	55973948	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs769291144	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	143	0	ENST00000263923.4:c.1368C>G	p.Ile456Met	p.I456M	ENST00000263923	NM_002253.2	456	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3497.1	1368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGATGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726,Prints_domain:PR01834	.	.	ENSP00000263923	.	10/30	.	.	.	.	.	.	.	.	rs769291144	10/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,missense_variant,p.Ile456Met,ENST00000263923,;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	1664	143	106	SUCCESS
EVC2	132884	.	GRCh37	4	5642427	5642427	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760369547	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	72	108	1	ENST00000344408.5:c.1284G>T	p.Met428Ile	p.M428I	ENST00000344408	NM_147127.4	428	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3382.2	1284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCATTTT	NONE	byFrequency	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	10/22	.	.	.	.	.	.	.	.	rs760369547	10/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.19)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Met428Ile,ENST00000344938,;EVC2,missense_variant,p.Met348Ile,ENST00000310917,;EVC2,missense_variant,p.Met428Ile,ENST00000344408,;EVC2,missense_variant,p.Met348Ile,ENST00000475313,;EVC2,missense_variant,p.Met348Ile,ENST00000509670,;	1338	109	132	SUCCESS
AASDH	132949	.	GRCh37	4	57250311	57250311	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	87	232	0	ENST00000205214.6:c.155A>T	p.His52Leu	p.H52L	ENST00000205214	NM_181806.2	52	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS3504.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGTGTAAC	NONE	.	.	Superfamily_domains:SSF56801,Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	deleterious(0.02)	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,missense_variant,p.His52Leu,ENST00000451613,;AASDH,missense_variant,p.His52Leu,ENST00000205214,;AASDH,missense_variant,p.His52Leu,ENST00000502617,;AASDH,5_prime_UTR_variant,,ENST00000434343,;AASDH,5_prime_UTR_variant,,ENST00000602986,;AASDH,intron_variant,,ENST00000513376,;RP11-646I6.5,upstream_gene_variant,,ENST00000602927,;AASDH,intron_variant,,ENST00000510762,;AASDH,missense_variant,p.His52Leu,ENST00000503808,;AASDH,missense_variant,p.His52Leu,ENST00000514745,;AASDH,non_coding_transcript_exon_variant,,ENST00000514796,;AASDH,non_coding_transcript_exon_variant,,ENST00000510012,;	336	232	218	SUCCESS
EPHA5	2044	.	GRCh37	4	66356415	66356415	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	47	191	1	ENST00000273854.3:c.1082C>G	p.Pro361Arg	p.P361R	ENST00000273854	NM_004439.5	361	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS3513.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGGAGCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000273854	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,missense_variant,p.Pro361Arg,ENST00000273854,;EPHA5,missense_variant,p.Pro361Arg,ENST00000511294,;EPHA5,missense_variant,p.Pro361Arg,ENST00000354839,;EPHA5,intron_variant,,ENST00000432638,;	1683	192	161	SUCCESS
EPHA5	2044	.	GRCh37	4	66467379	66467379	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	54	0	ENST00000273854.3:c.890A>T	p.Glu297Val	p.E297V	ENST00000273854	NM_004439.5	297	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3513.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTCTTCA	NONE	.	.	hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000273854	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	deleterious(0.02)	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,missense_variant,p.Glu297Val,ENST00000273854,;EPHA5,missense_variant,p.Glu297Val,ENST00000511294,;EPHA5,missense_variant,p.Glu297Val,ENST00000432638,;EPHA5,missense_variant,p.Glu297Val,ENST00000354839,;	1491	54	50	SUCCESS
EPHA5	2044	.	GRCh37	4	66467935	66467935	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	59	0	ENST00000273854.3:c.334T>A	p.Trp112Arg	p.W112R	ENST00000273854	NM_004439.5	112	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS3513.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAGTTAT	BUFFER|p.N108K|c.324T>A|3	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000273854	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,missense_variant,p.Trp112Arg,ENST00000273854,;EPHA5,missense_variant,p.Trp112Arg,ENST00000511294,;EPHA5,missense_variant,p.Trp112Arg,ENST00000432638,;EPHA5,missense_variant,p.Trp112Arg,ENST00000354839,;	935	59	48	SUCCESS
TMPRSS11A	339967	.	GRCh37	4	68780363	68780363	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	27	224	0	ENST00000334830.7:c.1047T>C	p.Asp349=	p.D349=	ENST00000334830		349	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3519.1	1047	RADIA|MUTECT|MUSE|VARSCANS	.	TTTATATCATT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF37,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	.	ENSP00000334611	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000334830	Transcript	.	.	ENSG00000187054	27954	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM11A_HUMAN	TMPRSS11A	HGNC	.	.	UPI0000457217	SNV	TMPRSS11A,synonymous_variant,p.%3D,ENST00000508048,;TMPRSS11A,synonymous_variant,p.%3D,ENST00000334830,;TMPRSS11A,synonymous_variant,p.%3D,ENST00000513536,;TMPRSS11A,synonymous_variant,p.%3D,ENST00000396188,;UBA6-AS1,intron_variant,,ENST00000500538,;	1794	224	216	SUCCESS
TMPRSS11A	339967	.	GRCh37	4	68795630	68795630	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	74	200	0	ENST00000334830.7:c.458T>C	p.Leu153Ser	p.L153S	ENST00000334830		153	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS3519.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCAAGGCT	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24256:SF37,hmmpanther:PTHR24256,Gene3D:1ivzA00,Pfam_domain:PF01390,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452	.	.	ENSP00000334611	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000334830	Transcript	.	.	ENSG00000187054	27954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	deleterious(0.01)	.	TM11A_HUMAN	TMPRSS11A	HGNC	.	.	UPI0000457217	SNV	TMPRSS11A,missense_variant,p.Leu149Ser,ENST00000508048,;TMPRSS11A,missense_variant,p.Leu153Ser,ENST00000334830,;TMPRSS11A,missense_variant,p.Leu130Ser,ENST00000513536,;TMPRSS11A,missense_variant,p.Leu150Ser,ENST00000396188,;UBA6-AS1,intron_variant,,ENST00000500538,;	1205	200	155	SUCCESS
SHROOM3	57619	.	GRCh37	4	77675938	77675938	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	160	1	ENST00000296043.6:c.4302C>T	p.Ala1434=	p.A1434=	ENST00000296043	NM_020859.3	1434	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3579.2	4302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCCACGC	NONE	.	.	hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	.	.	ENSP00000296043	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,synonymous_variant,p.%3D,ENST00000296043,;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,downstream_gene_variant,,ENST00000469923,;	5255	161	136	SUCCESS
ABLIM2	84448	.	GRCh37	4	8029484	8029484	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	41	95	0	ENST00000341937.5:c.1168+1899T>A		p.*390*	ENST00000341937	NM_001130084.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47014.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTACCTCG	NONE	.	.	.	.	.	ENSP00000393511	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000447017	Transcript	.	.	ENSG00000163995	19195	.	.	HIGH	12/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABLM2_HUMAN	ABLIM2	HGNC	Q4W5G4_HUMAN	.	UPI00017994EF	SNV	ABLIM2,splice_donor_variant,,ENST00000510277,;ABLIM2,splice_donor_variant,,ENST00000447017,;ABLIM2,intron_variant,,ENST00000407564,;ABLIM2,intron_variant,,ENST00000361581,;ABLIM2,intron_variant,,ENST00000545242,;ABLIM2,intron_variant,,ENST00000361737,;ABLIM2,intron_variant,,ENST00000428004,;ABLIM2,intron_variant,,ENST00000341937,;ABLIM2,intron_variant,,ENST00000296372,;ABLIM2,intron_variant,,ENST00000546334,;ABLIM2,intron_variant,,ENST00000318888,;ABLIM2,intron_variant,,ENST00000505872,;ABLIM2,intron_variant,,ENST00000514025,;RP11-338K13.1,downstream_gene_variant,,ENST00000608962,;ABLIM2,splice_donor_variant,,ENST00000515079,;	.	95	114	SUCCESS
PTPN13	5783	.	GRCh37	4	87732253	87732253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	47	0	ENST00000411767.2:c.7354C>A	p.Gln2452Lys	p.Q2452K	ENST00000411767		2452	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47093.1	7369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCAGACA	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,SMART_domains:SM00194,PIRSF_domain:PIRSF000933,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000394794	.	47/48	.	.	.	.	.	.	.	.	.	47/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Gln2452Lys,ENST00000411767,;PTPN13,missense_variant,p.Gln2457Lys,ENST00000436978,;PTPN13,missense_variant,p.Gln2261Lys,ENST00000316707,;PTPN13,missense_variant,p.Gln2457Lys,ENST00000511467,;PTPN13,missense_variant,p.Gln2433Lys,ENST00000427191,;	7849	47	38	SUCCESS
CCSER1	401145	.	GRCh37	4	91229854	91229854	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	53	126	0	ENST00000509176.1:c.419A>G	p.Glu140Gly	p.E140G	ENST00000509176	NM_001145065.1	140	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47099.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAGCACT	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Glu140Gly,ENST00000509176,;CCSER1,missense_variant,p.Glu140Gly,ENST00000333691,;CCSER1,missense_variant,p.Glu140Gly,ENST00000432775,;CCSER1,missense_variant,p.Glu140Gly,ENST00000505073,;CCSER1,upstream_gene_variant,,ENST00000514352,;CCSER1,upstream_gene_variant,,ENST00000508086,;CCSER1,upstream_gene_variant,,ENST00000508550,;	707	126	122	SUCCESS
GIN1	54826	.	GRCh37	5	102444366	102444366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	98	2	ENST00000399004.2:c.46G>A	p.Ala16Thr	p.A16T	ENST00000399004	NM_017676.2	16	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43349.1	46	RADIA|SOMATICSNIPER|VARSCANS	.	ATATGCAATCT	NONE	.	.	.	.	.	ENSP00000381970	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.313)	.	tolerated(0.09)	.	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,missense_variant,p.Ala16Thr,ENST00000508629,;GIN1,missense_variant,p.Ala16Thr,ENST00000399004,;GIN1,upstream_gene_variant,,ENST00000511400,;GIN1,missense_variant,p.Ala16Thr,ENST00000513747,;GIN1,missense_variant,p.Ala16Thr,ENST00000512248,;GIN1,non_coding_transcript_exon_variant,,ENST00000513603,;	141	100	74	SUCCESS
MARCH3	0	.	GRCh37	5	126253879	126253879	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	78	0	ENST00000308660.5:c.-16A>G		p.*6*	ENST00000308660	NM_178450.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4141.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAATTACTC	NONE	.	.	.	.	.	ENSP00000309141	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000308660	Transcript	.	.	ENSG00000173926	28728	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARH3_HUMAN	MARCH3	HGNC	.	.	UPI000000DC16	SNV	MARCH3,5_prime_UTR_variant,,ENST00000308660,;MARCH3,5_prime_UTR_variant,,ENST00000515241,;MARCH3,non_coding_transcript_exon_variant,,ENST00000502289,;MARCH3,upstream_gene_variant,,ENST00000504239,;	500	78	82	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128863439	128863439	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs780963556	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	94	297	0	ENST00000274487.4:c.1069-2A>T		p.X357_splice	ENST00000274487	NM_133638.3	357		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4146.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAGGTAT	NONE	byFrequency	.	.	.	.	ENSP00000274487	.	.	.	.	.	.	.	.	.	.	rs780963556	.	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	HIGH	4/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,splice_acceptor_variant,,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,splice_acceptor_variant,,ENST00000502709,;ADAMTS19,splice_acceptor_variant,,ENST00000505791,;	.	297	226	SUCCESS
CHSY3	337876	.	GRCh37	5	129243821	129243821	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs146180146	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	64	138	1	ENST00000305031.4:c.854A>T	p.Tyr285Phe	p.Y285F	ENST00000305031	NM_175856.4	285	tAc/tTc	0	T:0.002	T:0.0008	.	T:0	.	T	Y/F	protein_coding	YES	CCDS34223.1	854	RADIA|SOMATICSNIPER|VARSCANS	.	TCTCTACCTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Superfamily_domains:SSF53448	T:0	T:0	ENSP00000302629	T:0	2/3	.	.	.	.	.	.	.	.	rs146180146	2/3	PASS	ENST00000305031	Transcript	.	T:0.0002	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.05)	T:0	tolerated(0.89)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Tyr285Phe,ENST00000305031,;CTC-575N7.1,upstream_gene_variant,,ENST00000503616,;CTC-575N7.1,upstream_gene_variant,,ENST00000515569,;CHSY3,non_coding_transcript_exon_variant,,ENST00000507545,;	1212	139	138	SUCCESS
AC034220.3	0	.	GRCh37	5	131647952	131647952	+	splice_region_variant,intron_variant,non_coding_transcript_variant	Splice_Region	SNP	A	A	G	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	93	0	ENST00000417795.1:n.824-6T>C		p.X275_splice	ENST00000417795		275		0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4153.1	492	MUTECT|MUSE|VARSCANS	.	CTGTCAGACAG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF5,hmmpanther:PTHR24064,PROSITE_patterns:PS00216,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473	.	.	ENSP00000200652	.	2/10	.	.	.	.	.	.	.	.	COSM3993954	2/10	PASS	ENST00000200652	Transcript	1	.	ENSG00000197208	10968	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	S22A4_HUMAN	SLC22A4	HGNC	D9N2T6_HUMAN	.	UPI000006DAB7	SNV	SLC22A4,synonymous_variant,p.%3D,ENST00000200652,;AC034220.3,splice_region_variant,,ENST00000417795,;SLC22A4,non_coding_transcript_exon_variant,,ENST00000491257,;	666	93	54	SUCCESS
FAM13B	51306	.	GRCh37	5	137284750	137284750	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	61	0	ENST00000033079.3:c.1988A>G	p.Lys663Arg	p.K663R	ENST00000033079	NM_016603.2	663	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS4195.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTTGGGT	NONE	.	.	hmmpanther:PTHR15904:SF16,hmmpanther:PTHR15904	.	.	ENSP00000033079	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000033079	Transcript	.	.	ENSG00000031003	1335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	FA13B_HUMAN	FAM13B	HGNC	D6RE97_HUMAN,D6RDL7_HUMAN,D6RCA0_HUMAN,D6RBJ3_HUMAN,D6RAT6_HUMAN	.	UPI000004A03C	SNV	FAM13B,missense_variant,p.Lys663Arg,ENST00000420893,;FAM13B,missense_variant,p.Lys663Arg,ENST00000033079,;FAM13B,missense_variant,p.Lys567Arg,ENST00000425075,;FAM13B,upstream_gene_variant,,ENST00000513640,;FAM13B,downstream_gene_variant,,ENST00000505281,;	2440	61	72	SUCCESS
PCDHA1	56147	.	GRCh37	5	140183244	140183244	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	79	1	ENST00000504120.2:c.2394+14975T>A		p.*798*	ENST00000504120	NM_018900.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54915.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTGGAAA	NONE	.	.	.	.	.	ENSP00000429808	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,missense_variant,p.Leu821Gln,ENST00000532566,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA4,upstream_gene_variant,,ENST00000530339,;PCDHA4,upstream_gene_variant,,ENST00000356878,;PCDHA4,upstream_gene_variant,,ENST00000512229,;	.	80	91	SUCCESS
PCDHA5	56143	.	GRCh37	5	140202294	140202294	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	140	1	ENST00000529859.1:c.934T>G	p.Tyr312Asp	p.Y312D	ENST00000529859	NM_018908.2	312	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS54917.1	934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACTATAAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.26)	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Tyr312Asp,ENST00000529619,;PCDHA5,missense_variant,p.Tyr312Asp,ENST00000378126,;PCDHA5,missense_variant,p.Tyr312Asp,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;	934	141	141	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140308412	140308412	+	synonymous_variant	Silent	SNP	A	A	G	rs1554206364	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	69	0	ENST00000253807.2:c.1935A>G	p.Pro645=	p.P645=	ENST00000253807	NM_018898.3	645	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4241.1	1935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCACTTTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,PROSITE_profiles:PS50268	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,synonymous_variant,p.%3D,ENST00000253807,;PCDHAC1,synonymous_variant,p.%3D,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1935	69	71	SUCCESS
PCDHB6	56130	.	GRCh37	5	140531986	140531986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	51	0	ENST00000231136.1:c.2148G>T	p.Arg716Ser	p.R716S	ENST00000231136	NM_018939.2	716	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4248.1	2148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGGCGGC	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0.01)	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,missense_variant,p.Arg580Ser,ENST00000543635,;PCDHB6,missense_variant,p.Arg716Ser,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2148	51	41	SUCCESS
PCDHB7	56129	.	GRCh37	5	140553027	140553027	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	84	147	0	ENST00000231137.3:c.611A>T	p.Glu204Val	p.E204V	ENST00000231137	NM_018940.2	204	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4249.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGATAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF69,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious_low_confidence(0.02)	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,missense_variant,p.Glu204Val,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	785	147	158	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	140560	140560	+	synonymous_variant	Silent	SNP	T	T	A	rs766559529	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	115	253	2	ENST00000283426.6:c.138T>A	p.Ser46=	p.S46=	ENST00000283426	NM_052909.3	46	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34124.1	138	RADIA|VARSCANS	.	ACCTCTGGCCC	NONE	.	.	.	.	.	ENSP00000283426	.	1/18	.	.	.	.	.	.	.	.	rs766559529	1/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,synonymous_variant,p.%3D,ENST00000283426,;PLEKHG4B,upstream_gene_variant,,ENST00000502646,;CTD-2231H16.1,downstream_gene_variant,,ENST00000512035,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	188	256	241	SUCCESS
PCDHB10	56126	.	GRCh37	5	140572771	140572771	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	48	137	0	ENST00000239446.4:c.646G>T	p.Asp216Tyr	p.D216Y	ENST00000239446	NM_018930.3	216	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4252.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGATGGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,missense_variant,p.Asp216Tyr,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	830	137	125	SUCCESS
PCDHGA3	56112	.	GRCh37	5	140723872	140723872	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	151	0	ENST00000253812.6:c.272A>C	p.Asp91Ala	p.D91A	ENST00000253812	NM_018916.3	91	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS47290.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAGACCGGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000253812	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000253812	Transcript	.	.	ENSG00000254245	8701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	PCDG3_HUMAN	PCDHGA3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000161C1A	SNV	PCDHGA3,missense_variant,p.Asp91Ala,ENST00000253812,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA2,downstream_gene_variant,,ENST00000528330,;	272	151	135	SUCCESS
SLC6A3	6531	.	GRCh37	5	1409895	1409895	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	63	0	ENST00000270349.9:c.1339C>A	p.Leu447Ile	p.L447I	ENST00000270349	NM_001044.4	447	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS3863.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGCTCAC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.32)	.	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,missense_variant,p.Leu447Ile,ENST00000270349,;SLC6A3,missense_variant,p.Leu447Ile,ENST00000453492,;SLC6A3,downstream_gene_variant,,ENST00000511750,;	1467	63	48	SUCCESS
TRIO	7204	.	GRCh37	5	14336822	14336822	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	131	410	2	ENST00000344204.4:c.2032A>G	p.Thr678Ala	p.T678A	ENST00000344204	NM_007118.2	678	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3883.1	2032	RADIA|VARSCANS	.	TTCACACCCAT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826	.	.	ENSP00000339299	.	11/57	.	.	.	.	.	.	.	.	.	11/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,missense_variant,p.Thr678Ala,ENST00000537187,;TRIO,missense_variant,p.Thr629Ala,ENST00000509967,;TRIO,missense_variant,p.Thr678Ala,ENST00000344204,;TRIO,missense_variant,p.Thr411Ala,ENST00000513206,;TRIO,missense_variant,p.Thr619Ala,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;	2056	412	352	SUCCESS
GRXCR2	643226	.	GRCh37	5	145239349	145239349	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1561673901	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	10	239	0	ENST00000377976.1:c.694T>A	p.Cys232Ser	p.C232S	ENST00000377976	NM_001080516.1	232	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS34263.1	694	MUTECT|MUSE	.	AGGGCACCTCA	NONE	.	.	hmmpanther:PTHR10168:SF66,hmmpanther:PTHR10168,Superfamily_domains:SSF57938	.	.	ENSP00000367214	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377976	Transcript	1	.	ENSG00000204928	33862	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRCR2_HUMAN	GRXCR2	HGNC	.	.	UPI00006C0979	SNV	GRXCR2,missense_variant,p.Cys232Ser,ENST00000377976,;	694	239	199	SUCCESS
FAT2	2196	.	GRCh37	5	150930189	150930189	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs556459301	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	71	0	ENST00000261800.5:c.4540C>T	p.Leu1514Phe	p.L1514F	ENST00000261800	NM_001447.2	1514	Ctc/Ttc	0	.	A:0	.	A:0	.	A	L/F	protein_coding	YES	CCDS4317.1	4540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGAGGTCCA	NONE	by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	A:0	.	ENSP00000261800	A:0	7/23	.	.	.	.	.	.	.	.	rs556459301,COSM281040	7/23	PASS	ENST00000261800	Transcript	.	A:0.0002	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.034)	A:0.001	.	0,1	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Leu1514Phe,ENST00000261800,;	4553	71	63	SUCCESS
GEMIN5	25929	.	GRCh37	5	154311783	154311783	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	63	144	0	ENST00000285873.7:c.537T>C	p.Ile179=	p.I179=	ENST00000285873	NM_001252156.1	179	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS4330.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCAATTAT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000285873	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,synonymous_variant,p.%3D,ENST00000285873,;GEMIN5,upstream_gene_variant,,ENST00000523355,;	613	144	145	SUCCESS
FAM71B	153745	.	GRCh37	5	156590341	156590341	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200982218	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	50	0	ENST00000302938.4:c.935C>A	p.Ala312Glu	p.A312E	ENST00000302938	NM_130899.2	312	gCg/gAg	0	.	A:0	.	A:0	.	T	A/E	protein_coding	YES	CCDS4335.1	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGCTGTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR22574:SF2,hmmpanther:PTHR22574	A:0	.	ENSP00000305596	A:0.001	2/2	.	.	.	.	.	.	.	.	rs200982218,COSM591121	2/2	PASS	ENST00000302938	Transcript	.	A:0.0002	ENSG00000170613	28397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.886)	A:0	deleterious(0)	0,1	FA71B_HUMAN	FAM71B	HGNC	.	.	UPI000006F9DC	SNV	FAM71B,missense_variant,p.Ala312Glu,ENST00000302938,;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	1031	50	50	SUCCESS
ADRA1B	147	.	GRCh37	5	159344340	159344340	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757479764	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	58	0	ENST00000306675.3:c.428G>A	p.Arg143His	p.R143H	ENST00000306675	NM_000679.3	143	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4347.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCGCTACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF17,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306662	.	1/2	.	.	.	.	.	.	.	.	rs757479764	1/2	PASS	ENST00000306675	Transcript	.	.	ENSG00000170214	278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ADA1B_HUMAN	ADRA1B	HGNC	.	.	UPI000003B079	SNV	ADRA1B,missense_variant,p.Arg143His,ENST00000306675,;	551	58	54	SUCCESS
HMMR	3161	.	GRCh37	5	162900512	162900512	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	127	324	1	ENST00000358715.3:c.850A>G	p.Lys284Glu	p.K284E	ENST00000358715		284	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS47334.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTAAACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18956	.	.	ENSP00000377492	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000393915	Transcript	.	.	ENSG00000072571	5012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.25)	.	HMMR_HUMAN	HMMR	HGNC	E5RIH2_HUMAN,E5RI30_HUMAN,E3W978_HUMAN,B9UCQ3_HUMAN	.	UPI00001AE676	SNV	HMMR,missense_variant,p.Lys284Glu,ENST00000358715,;HMMR,missense_variant,p.Lys198Glu,ENST00000432118,;HMMR,missense_variant,p.Lys269Glu,ENST00000353866,;HMMR,missense_variant,p.Lys285Glu,ENST00000393915,;HMMR,downstream_gene_variant,,ENST00000522094,;HMMR,downstream_gene_variant,,ENST00000520345,;HMMR,downstream_gene_variant,,ENST00000517936,;	996	325	293	SUCCESS
STK10	6793	.	GRCh37	5	171509351	171509351	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	91	0	ENST00000176763.5:c.1968G>A	p.Gln656=	p.Q656=	ENST00000176763	NM_005990.3	656	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS34290.1	1968	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCTGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24361:SF195,hmmpanther:PTHR24361,Pfam_domain:PF12474	.	.	ENSP00000176763	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000176763	Transcript	1	.	ENSG00000072786	11388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK10_HUMAN	STK10	HGNC	.	.	UPI0000136104	SNV	STK10,synonymous_variant,p.%3D,ENST00000176763,;AC113342.1,upstream_gene_variant,,ENST00000579783,;STK10,non_coding_transcript_exon_variant,,ENST00000522879,;	2312	91	63	SUCCESS
NEURL1B	54492	.	GRCh37	5	172097160	172097160	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	25	0	ENST00000369800.5:c.404A>T	p.Glu135Val	p.E135V	ENST00000369800	NM_001142651.1	135	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS47342.1	404	RADIA|MUTECT|MUSE	.	GCCCGAGAACC	NONE	.	.	PROSITE_profiles:PS51065,hmmpanther:PTHR12429:SF7,hmmpanther:PTHR12429,SMART_domains:SM00588	.	.	ENSP00000358815	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000369800	Transcript	.	.	ENSG00000214357	35422	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	NEU1B_HUMAN	NEURL1B	HGNC	.	.	UPI0000D6E5EA	SNV	NEURL1B,missense_variant,p.Glu135Val,ENST00000369800,;NEURL1B,missense_variant,p.Glu135Val,ENST00000520919,;NEURL1B,intron_variant,,ENST00000522853,;	545	25	12	SUCCESS
DBN1	1627	.	GRCh37	5	176886227	176886227	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	24	0	ENST00000309007.5:c.998T>C	p.Ile333Thr	p.I333T	ENST00000309007	NM_004395.3	333	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS4421.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGATGGGA	NONE	.	.	hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829	.	.	ENSP00000292385	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.32)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Ile333Thr,ENST00000309007,;DBN1,missense_variant,p.Ile65Thr,ENST00000393563,;DBN1,missense_variant,p.Ile335Thr,ENST00000292385,;DBN1,missense_variant,p.Ile379Thr,ENST00000393565,;DBN1,missense_variant,p.Ile65Thr,ENST00000512501,;PRR7,downstream_gene_variant,,ENST00000323249,;PRR7,downstream_gene_variant,,ENST00000510492,;PRR7,downstream_gene_variant,,ENST00000502922,;DBN1,downstream_gene_variant,,ENST00000477391,;PRR7,downstream_gene_variant,,ENST00000507881,;DBN1,non_coding_transcript_exon_variant,,ENST00000467054,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;	1614	24	23	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178548746	178548746	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772438979	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	75	0	ENST00000251582.7:c.3094A>T	p.Ile1032Phe	p.I1032F	ENST00000251582	NM_014244.4	1032	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS4444.1	3094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGATGTTTC	NONE	byFrequency	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	.	.	ENSP00000251582	.	21/22	.	.	.	.	.	.	.	.	rs772438979	21/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,missense_variant,p.Ile1032Phe,ENST00000251582,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000518335,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000523450,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000522937,;	3196	75	60	SUCCESS
C5orf22	55322	.	GRCh37	5	31534522	31534522	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	102	0	ENST00000325366.9:c.225T>C		p.X75_splice	ENST00000325366	NM_018356.2	75	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS3895.1	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTGGGTA	NONE	.	.	hmmpanther:PTHR13225:SF2,hmmpanther:PTHR13225,Pfam_domain:PF12640	.	.	ENSP00000326879	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000325366	Transcript	.	.	ENSG00000082213	25639	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE022_HUMAN	C5orf22	HGNC	.	.	UPI000006FDD5	SNV	C5orf22,synonymous_variant,p.%3D,ENST00000325366,;C5orf22,synonymous_variant,p.%3D,ENST00000507818,;C5orf22,splice_region_variant,,ENST00000355907,;DROSHA,upstream_gene_variant,,ENST00000511367,;DROSHA,upstream_gene_variant,,ENST00000513349,;DROSHA,upstream_gene_variant,,ENST00000507438,;C5orf22,intron_variant,,ENST00000517780,;DROSHA,upstream_gene_variant,,ENST00000504361,;C5orf22,synonymous_variant,p.%3D,ENST00000513967,;C5orf22,synonymous_variant,p.%3D,ENST00000504464,;C5orf22,synonymous_variant,p.%3D,ENST00000510659,;C5orf22,non_coding_transcript_exon_variant,,ENST00000515409,;C5orf22,intron_variant,,ENST00000511208,;C5orf22,upstream_gene_variant,,ENST00000510530,;	352	102	86	SUCCESS
BRIX1	55299	.	GRCh37	5	34922851	34922851	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	222	126	391	0	ENST00000336767.5:c.488G>A	p.Arg163Gln	p.R163Q	ENST00000336767	NM_018321.3	163	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS34143.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCGGCCCC	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR13634,Pfam_domain:PF04427,SMART_domains:SM00879,Superfamily_domains:SSF52954	.	.	ENSP00000338862	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000336767	Transcript	.	.	ENSG00000113460	24170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	BRX1_HUMAN	BRIX1	HGNC	Q9NUW4_HUMAN	.	UPI000007186B	SNV	BRIX1,missense_variant,p.Arg163Gln,ENST00000336767,;RAD1,upstream_gene_variant,,ENST00000341754,;BRIX1,non_coding_transcript_exon_variant,,ENST00000506023,;BRIX1,non_coding_transcript_exon_variant,,ENST00000515798,;BRIX1,non_coding_transcript_exon_variant,,ENST00000510960,;BRIX1,downstream_gene_variant,,ENST00000510834,;	851	391	348	SUCCESS
IRX1	79192	.	GRCh37	5	3600372	3600372	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	37	0	ENST00000302006.3:c.1310C>A	p.Pro437Gln	p.P437Q	ENST00000302006	NM_024337.3	437	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS34132.1	1310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCAGGTA	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	tolerated(0.09)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Pro437Gln,ENST00000302006,;CTD-2012M11.3,upstream_gene_variant,,ENST00000559410,;	1362	37	36	SUCCESS
C5orf42	0	.	GRCh37	5	37206332	37206332	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	25	289	0	ENST00000425232.2:c.3116A>T	p.Gln1039Leu	p.Q1039L	ENST00000425232	NM_023073.3	1039	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34146.2	3116	MUTECT|MUSE|VARSCANS	.	ACAGCTGGAAA	NONE	.	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	.	ENSP00000389014	.	17/52	.	.	.	.	.	.	.	.	.	17/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.083)	.	deleterious(0.03)	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,missense_variant,p.Gln1039Leu,ENST00000508244,;C5orf42,missense_variant,p.Gln1039Leu,ENST00000425232,;C5orf42,missense_variant,p.Gln87Leu,ENST00000514429,;C5orf42,5_prime_UTR_variant,,ENST00000274258,;C5orf42,missense_variant,p.Gln44Leu,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000505431,;OFD1P17,upstream_gene_variant,,ENST00000437639,;	3347	289	277	SUCCESS
WDR70	55100	.	GRCh37	5	37721261	37721261	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1289414446	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	59	162	0	ENST00000265107.4:c.1461G>A	p.Met487Ile	p.M487I	ENST00000265107	NM_018034.2	487	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34147.1	1461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATGGTTGG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR16017,hmmpanther:PTHR16017:SF0	.	.	ENSP00000265107	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000265107	Transcript	.	.	ENSG00000082068	25495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.41)	.	WDR70_HUMAN	WDR70	HGNC	.	.	UPI0000049FC2	SNV	WDR70,missense_variant,p.Met487Ile,ENST00000265107,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;WDR70,upstream_gene_variant,,ENST00000508730,;WDR70,upstream_gene_variant,,ENST00000507136,;	1617	162	142	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5242253	5242253	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	66	1	ENST00000274181.7:c.2611A>T	p.Ser871Cys	p.S871C	ENST00000274181	NM_139056.2	871	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS43299.1	2611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGCTAC	NONE	.	.	hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723	.	.	ENSP00000274181	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	deleterious(0.02)	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,missense_variant,p.Ser871Cys,ENST00000274181,;ADAMTS16,downstream_gene_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	2749	67	43	SUCCESS
DHX29	54505	.	GRCh37	5	54603486	54603486	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	21	0	ENST00000251636.5:c.-85G>T		p.*29*	ENST00000251636	NM_019030.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34158.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTCCGGGG	NONE	.	.	.	.	.	ENSP00000251636	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000251636	Transcript	.	.	ENSG00000067248	15815	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX29_HUMAN	DHX29	HGNC	.	.	UPI00001AE72C	SNV	DHX29,5_prime_UTR_variant,,ENST00000251636,;DHX29,upstream_gene_variant,,ENST00000508346,;SKIV2L2,upstream_gene_variant,,ENST00000230640,;SKIV2L2,upstream_gene_variant,,ENST00000545714,;SKIV2L2,upstream_gene_variant,,ENST00000503165,;SKIV2L2,upstream_gene_variant,,ENST00000504997,;SKIV2L2,upstream_gene_variant,,ENST00000504388,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;SKIV2L2,upstream_gene_variant,,ENST00000506750,;	65	21	31	SUCCESS
DEPDC1B	55789	.	GRCh37	5	59899225	59899225	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769862356	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	76	0	ENST00000265036.5:c.1235G>T	p.Arg412Ile	p.R412I	ENST00000265036	NM_018369.2	412	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS3977.1	1235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTTCGT	NONE	.	.	hmmpanther:PTHR16206:SF11,hmmpanther:PTHR16206	.	.	ENSP00000265036	.	9/11	.	.	.	.	.	.	.	.	rs769862356	9/11	PASS	ENST00000265036	Transcript	.	.	ENSG00000035499	24902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0.01)	.	DEP1B_HUMAN	DEPDC1B	HGNC	.	.	UPI000020C7D4	SNV	DEPDC1B,missense_variant,p.Arg412Ile,ENST00000453022,;DEPDC1B,missense_variant,p.Arg412Ile,ENST00000265036,;DEPDC1B,missense_variant,p.Arg385Ile,ENST00000545085,;DEPDC1B,downstream_gene_variant,,ENST00000509006,;DEPDC1B,3_prime_UTR_variant,,ENST00000512078,;	1303	76	65	SUCCESS
CARTPT	9607	.	GRCh37	5	71016426	71016426	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751106151	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	40	108	0	ENST00000296777.4:c.335T>C	p.Leu112Pro	p.L112P	ENST00000296777	NM_004291.3	112	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4011.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCCTGA	NONE	.	.	hmmpanther:PTHR16655,hmmpanther:PTHR16655:SF0,Pfam_domain:PF06373,Gene3D:1hy9A00,Superfamily_domains:0047261	.	.	ENSP00000296777	.	3/3	.	.	.	.	.	.	.	.	rs751106151	3/3	PASS	ENST00000296777	Transcript	.	.	ENSG00000164326	24323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CART_HUMAN	CARTPT	HGNC	.	.	UPI00000015E9	SNV	CARTPT,missense_variant,p.Leu112Pro,ENST00000296777,;CARTPT,non_coding_transcript_exon_variant,,ENST00000513096,;	466	108	82	SUCCESS
MRPS27	23107	.	GRCh37	5	71519592	71519592	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	110	0	ENST00000261413.5:c.923A>T	p.Gln308Leu	p.Q308L	ENST00000261413	NM_015084.2	308	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4013.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTGGTTG	NONE	.	.	hmmpanther:PTHR21393,Pfam_domain:PF10037	.	.	ENSP00000261413	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000261413	Transcript	.	.	ENSG00000113048	14512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.36)	.	RT27_HUMAN	MRPS27	HGNC	Q8N6F2_HUMAN,Q6PKB3_HUMAN,G5EA06_HUMAN,E5RJ73_HUMAN,D6RH20_HUMAN	.	UPI000013D180	SNV	MRPS27,missense_variant,p.Gln252Leu,ENST00000457646,;MRPS27,missense_variant,p.Gln252Leu,ENST00000508863,;MRPS27,missense_variant,p.Gln322Leu,ENST00000513900,;MRPS27,missense_variant,p.Gln308Leu,ENST00000261413,;MRPS27,downstream_gene_variant,,ENST00000515404,;MRPS27,downstream_gene_variant,,ENST00000522562,;MRPS27,upstream_gene_variant,,ENST00000522585,;MRPS27,upstream_gene_variant,,ENST00000519874,;MRPS27,downstream_gene_variant,,ENST00000522042,;MRPS27,non_coding_transcript_exon_variant,,ENST00000515226,;	963	110	89	SUCCESS
TNPO1	3842	.	GRCh37	5	72188978	72188978	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	42	72	0	ENST00000337273.5:c.1801G>T	p.Val601Phe	p.V601F	ENST00000337273	NM_002270.3	601	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS43329.1	1801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGTTGCC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.725)	.	deleterious(0)	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	SNV	TNPO1,missense_variant,p.Val551Phe,ENST00000523768,;TNPO1,missense_variant,p.Val593Phe,ENST00000506351,;TNPO1,missense_variant,p.Val601Phe,ENST00000337273,;TNPO1,missense_variant,p.Val551Phe,ENST00000454282,;TNPO1,upstream_gene_variant,,ENST00000605210,;	2227	72	98	SUCCESS
TNPO1	3842	.	GRCh37	5	72201205	72201205	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	72	0	ENST00000337273.5:c.2665A>G	p.Lys889Glu	p.K889E	ENST00000337273	NM_002270.3	889	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS43329.1	2665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTAAAAGAG	BUFFER|p.R883C|c.2647C>T|3	.	.	hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.05)	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	SNV	TNPO1,missense_variant,p.Lys839Glu,ENST00000523768,;TNPO1,missense_variant,p.Lys881Glu,ENST00000506351,;TNPO1,missense_variant,p.Lys889Glu,ENST00000337273,;TNPO1,missense_variant,p.Lys839Glu,ENST00000454282,;TNPO1,missense_variant,p.Lys184Glu,ENST00000605210,;TNPO1,non_coding_transcript_exon_variant,,ENST00000503084,;	3091	72	71	SUCCESS
BTF3	689	.	GRCh37	5	72798773	72798773	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	40	0	ENST00000380591.3:c.348C>A	p.Ile116=	p.I116=	ENST00000380591	NM_001037637.1	116	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34185.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATCCACTT	NONE	.	.	PROSITE_profiles:PS51151,hmmpanther:PTHR10351,Pfam_domain:PF01849	.	.	ENSP00000369965	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000380591	Transcript	.	.	ENSG00000145741	1125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTF3_HUMAN	BTF3	HGNC	.	.	UPI0000049C1C	SNV	BTF3,synonymous_variant,p.%3D,ENST00000380591,;BTF3,synonymous_variant,p.%3D,ENST00000509708,;BTF3,synonymous_variant,p.%3D,ENST00000507081,;BTF3,synonymous_variant,p.%3D,ENST00000335895,;RP11-79P5.9,upstream_gene_variant,,ENST00000607001,;BTF3,non_coding_transcript_exon_variant,,ENST00000514505,;BTF3,non_coding_transcript_exon_variant,,ENST00000514360,;BTF3,non_coding_transcript_exon_variant,,ENST00000508901,;BTF3,downstream_gene_variant,,ENST00000512257,;BTF3,downstream_gene_variant,,ENST00000510787,;	567	40	36	SUCCESS
UTP15	84135	.	GRCh37	5	72868323	72868323	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	160	0	ENST00000296792.4:c.683A>G	p.Tyr228Cys	p.Y228C	ENST00000296792	NM_032175.2	228	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34186.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTTATGTTA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19924,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000296792	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000296792	Transcript	.	.	ENSG00000164338	25758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.11)	.	UTP15_HUMAN	UTP15	HGNC	D6RF65_HUMAN,B4DU75_HUMAN	.	UPI000020CADC	SNV	UTP15,missense_variant,p.Tyr38Cys,ENST00000543251,;UTP15,missense_variant,p.Tyr255Cys,ENST00000509005,;UTP15,missense_variant,p.Tyr209Cys,ENST00000508491,;UTP15,missense_variant,p.Tyr228Cys,ENST00000296792,;UTP15,downstream_gene_variant,,ENST00000513824,;UTP15,non_coding_transcript_exon_variant,,ENST00000512550,;UTP15,downstream_gene_variant,,ENST00000510478,;	938	160	133	SUCCESS
ANKRD32	0	.	GRCh37	5	93989111	93989111	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	184	453	0	ENST00000265140.5:c.1017A>T	p.Ile339=	p.I339=	ENST00000265140	NM_032290.3	339	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4071.2	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATATATAA	NONE	.	.	hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22	.	.	ENSP00000265140	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000265140	Transcript	.	.	ENSG00000133302	25408	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR32_HUMAN	ANKRD32	HGNC	I6L9F1_HUMAN,D6RED9_HUMAN	.	UPI000066D9F9	SNV	ANKRD32,synonymous_variant,p.%3D,ENST00000265140,;ANKRD32,3_prime_UTR_variant,,ENST00000508130,;ANKRD32,intron_variant,,ENST00000466957,;	1436	453	417	SUCCESS
RTN4IP1	84816	.	GRCh37	6	107076839	107076839	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	74	0	ENST00000369063.3:c.58T>C	p.Trp20Arg	p.W20R	ENST00000369063	NM_032730.4	20	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS5056.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGAAGC	NONE	.	.	.	.	.	ENSP00000358059	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000369063	Transcript	.	.	ENSG00000130347	18647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.19)	.	RT4I1_HUMAN	RTN4IP1	HGNC	B2R9Y1_HUMAN	.	UPI000002DFDB	SNV	RTN4IP1,missense_variant,p.Trp20Arg,ENST00000539449,;RTN4IP1,missense_variant,p.Trp20Arg,ENST00000369063,;QRSL1,upstream_gene_variant,,ENST00000369046,;QRSL1,upstream_gene_variant,,ENST00000369044,;QRSL1,upstream_gene_variant,,ENST00000467262,;	524	74	72	SUCCESS
DSE	29940	.	GRCh37	6	116757673	116757673	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	53	104	0	ENST00000331677.3:c.2042A>T	p.Gln681Leu	p.Q681L	ENST00000331677		681	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5107.1	2042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCAGCAAC	NONE	.	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532	.	.	ENSP00000332151	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	deleterious(0.03)	.	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,missense_variant,p.Gln681Leu,ENST00000452085,;DSE,missense_variant,p.Gln681Leu,ENST00000331677,;DSE,missense_variant,p.Gln700Leu,ENST00000537543,;DSE,missense_variant,p.Gln681Leu,ENST00000359564,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	2486	104	113	SUCCESS
FAM26E	0	.	GRCh37	6	116832815	116832815	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs772230060	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	42	0	ENST00000368599.3:c.-45T>G		p.*15*	ENST00000368599	NM_153711.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5108.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTGCCAA	NONE	.	.	.	.	.	ENSP00000357588	.	1/2	.	.	.	.	.	.	.	.	rs772230060	1/2	PASS	ENST00000368599	Transcript	.	.	ENSG00000178033	21568	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA26E_HUMAN	FAM26E	HGNC	.	.	UPI0000072525	SNV	FAM26E,5_prime_UTR_variant,,ENST00000368599,;TRAPPC3L,intron_variant,,ENST00000437098,;TRAPPC3L,intron_variant,,ENST00000356128,;TRAPPC3L,intron_variant,,ENST00000368602,;	7	42	48	SUCCESS
ADTRP	84830	.	GRCh37	6	11768527	11768527	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	52	145	1	ENST00000414691.3:c.243C>T	p.Ala81=	p.A81=	ENST00000414691	NM_032744.3	81	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47374.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGCAGT	NONE	.	.	hmmpanther:PTHR10989,hmmpanther:PTHR10989:SF15,Pfam_domain:PF04750	.	.	ENSP00000229583	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000229583	Transcript	.	.	ENSG00000111863	21214	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADTRP_HUMAN	ADTRP	HGNC	.	.	UPI00017A7DC7	SNV	ADTRP,synonymous_variant,p.%3D,ENST00000414691,;ADTRP,synonymous_variant,p.%3D,ENST00000229583,;ADTRP,synonymous_variant,p.%3D,ENST00000379413,;ADTRP,synonymous_variant,p.%3D,ENST00000506810,;ADTRP,synonymous_variant,p.%3D,ENST00000379415,;ADTRP,upstream_gene_variant,,ENST00000512139,;ADTRP,3_prime_UTR_variant,,ENST00000485323,;ADTRP,upstream_gene_variant,,ENST00000505099,;	341	146	242	SUCCESS
MCM9	254394	.	GRCh37	6	119136767	119136767	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	79	0	ENST00000316316.6:c.2652A>G	p.Pro884=	p.P884=	ENST00000316316	NM_017696.2	884	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS56447.1	2652	RADIA|MUTECT|MUSE	.	CTGTCTGGGCT	NONE	.	.	.	.	.	ENSP00000314505	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000316316	Transcript	.	.	ENSG00000111877	21484	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCM9_HUMAN	MCM9	HGNC	D6RHY8_HUMAN,D6RE85_HUMAN	.	UPI0001AE7302	SNV	MCM9,synonymous_variant,p.%3D,ENST00000316316,;MCM9,downstream_gene_variant,,ENST00000458674,;	2939	79	44	SUCCESS
EDN1	1906	.	GRCh37	6	12290873	12290873	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	35	74	0	ENST00000379375.5:c.11T>G	p.Leu4Trp	p.L4W	ENST00000379375	NM_001955.4	4	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS4522.1	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTTGCTCA	NONE	.	.	hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF9,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000368683	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000379375	Transcript	.	.	ENSG00000078401	3176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0.02)	.	EDN1_HUMAN	EDN1	HGNC	Q6FH53_HUMAN	.	UPI000012A217	SNV	EDN1,missense_variant,p.Leu4Trp,ENST00000379375,;	278	75	148	SUCCESS
CLVS2	134829	.	GRCh37	6	123319264	123319264	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	91	0	ENST00000275162.5:c.342T>C	p.Tyr114=	p.Y114=	ENST00000275162	NM_001010852.3	114	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS34525.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATGGCAG	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF73,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087,Prints_domain:PR00180	.	.	ENSP00000275162	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000275162	Transcript	.	.	ENSG00000146352	23046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLVS2_HUMAN	CLVS2	HGNC	.	.	UPI000013DA49	SNV	CLVS2,synonymous_variant,p.%3D,ENST00000275162,;CLVS2,intron_variant,,ENST00000368438,;	1677	91	74	SUCCESS
ENPP3	5169	.	GRCh37	6	132006562	132006562	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	80	195	0	ENST00000357639.3:c.1179A>T	p.Ile393=	p.I393=	ENST00000357639	NM_005021.3	393	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS5148.1	1179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATAAACTT	NONE	.	.	hmmpanther:PTHR10151:SF55,hmmpanther:PTHR10151,Pfam_domain:PF01663,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000406261	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000414305	Transcript	.	.	ENSG00000154269	3358	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENPP3_HUMAN	ENPP3	HGNC	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN	.	UPI000013DD9F	SNV	ENPP3,synonymous_variant,p.%3D,ENST00000358229,;ENPP3,synonymous_variant,p.%3D,ENST00000357639,;ENPP3,synonymous_variant,p.%3D,ENST00000414305,;ENPP3,downstream_gene_variant,,ENST00000427148,;	1507	195	172	SUCCESS
SIRT5	23408	.	GRCh37	6	13588600	13588600	+	synonymous_variant	Silent	SNP	G	G	A	rs1255303187	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	270	79	161	0	ENST00000606117.1:c.153G>A	p.Lys51=	p.K51=	ENST00000606117	NM_012241.4	51	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS4526.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCACAT	NONE	.	.	Superfamily_domains:SSF52467,Gene3D:3.40.50.1220,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF13,HAMAP:MF_01121,PROSITE_profiles:PS50305	.	.	ENSP00000476228	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000606117	Transcript	.	.	ENSG00000124523	14933	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIR5_HUMAN	SIRT5	HGNC	.	.	UPI0000073EB3	SNV	SIRT5,synonymous_variant,p.%3D,ENST00000379262,;SIRT5,synonymous_variant,p.%3D,ENST00000359782,;SIRT5,synonymous_variant,p.%3D,ENST00000606117,;SIRT5,intron_variant,,ENST00000397350,;SIRT5,3_prime_UTR_variant,,ENST00000606427,;SIRT5,intron_variant,,ENST00000379250,;	449	161	349	SUCCESS
SYNE1	23345	.	GRCh37	6	152765648	152765648	+	synonymous_variant	Silent	SNP	G	G	T	rs758375991	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	94	0	ENST00000367255.5:c.3735C>A	p.Leu1245=	p.L1245=	ENST00000367255	NM_182961.3	1245	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5236.2	3735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGAGAGA	NONE	byFrequency	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	30/146	.	.	.	.	.	.	.	.	rs758375991,COSM740393,COSM740394,COSM1150285	30/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000367248,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000413186,;SYNE1,synonymous_variant,p.%3D,ENST00000367253,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	4337	94	55	SUCCESS
FNDC1	84624	.	GRCh37	6	159654905	159654905	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	31	41	0	ENST00000297267.9:c.3361G>T	p.Ala1121Ser	p.A1121S	ENST00000297267	NM_032532.2	1121	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47512.1	3361	RADIA|MUTECT|MUSE	.	CAGGGGCAGGT	BUFFER|p.G1123G|c.3369C>T|4	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.75)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Ala1058Ser,ENST00000340366,;FNDC1,missense_variant,p.Ala1121Ser,ENST00000297267,;FNDC1,missense_variant,p.Ala1017Ser,ENST00000329629,;	3561	41	51	SUCCESS
MLLT4	0	.	GRCh37	6	168366615	168366615	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	27	0	ENST00000447894.2:c.5126A>T	p.Gln1709Leu	p.Q1709L	ENST00000447894		1709	cAg/cTg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47517.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGCGAA	NONE	.	1639	.	.	.	ENSP00000375956	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392108	Transcript	.	.	ENSG00000130396	7137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAD_HUMAN	MLLT4	HGNC	.	.	UPI0000711FD9	SNV	MLLT4,missense_variant,p.Gln198Leu,ENST00000507704,;MLLT4,missense_variant,p.Gln1716Leu,ENST00000351017,;MLLT4,missense_variant,p.Gln1709Leu,ENST00000447894,;MLLT4,missense_variant,p.Gln1719Leu,ENST00000400822,;MLLT4,missense_variant,p.Gln1709Leu,ENST00000366806,;MLLT4,intron_variant,,ENST00000392112,;MLLT4,downstream_gene_variant,,ENST00000392108,;MLLT4,upstream_gene_variant,,ENST00000515794,;MLLT4,upstream_gene_variant,,ENST00000485634,;MLLT4,downstream_gene_variant,,ENST00000476946,;MLLT4,downstream_gene_variant,,ENST00000344191,;MLLT4,upstream_gene_variant,,ENST00000486649,;MLLT4,upstream_gene_variant,,ENST00000511503,;MLLT4,downstream_gene_variant,,ENST00000511637,;	.	27	35	SUCCESS
DACT2	168002	.	GRCh37	6	168709146	168709146	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	49	105	0	ENST00000366795.3:c.1291T>A	p.Cys431Ser	p.C431S	ENST00000366795	NM_214462.3	431	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS47519.1	1291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACAGCTGT	NONE	.	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF13,Pfam_domain:PF15268	.	.	ENSP00000355760	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366795	Transcript	.	.	ENSG00000164488	21231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.06)	.	DACT2_HUMAN	DACT2	HGNC	.	.	UPI00001D8145	SNV	DACT2,missense_variant,p.Cys431Ser,ENST00000366795,;DACT2,missense_variant,p.Cys261Ser,ENST00000610183,;DACT2,missense_variant,p.Cys23Ser,ENST00000607983,;DACT2,intron_variant,,ENST00000366796,;	1380	105	113	SUCCESS
NUP153	9972	.	GRCh37	6	17706588	17706588	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373196566	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	48	0	ENST00000262077.2:c.31G>T	p.Gly11Cys	p.G11C	ENST00000262077	NM_001278210.1	11	Ggc/Tgc	0	T:0	.	.	.	.	A	G/C	protein_coding	YES	CCDS4541.1	31	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCCCCCTC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	.	T:0.0001	ENSP00000262077	.	1/22	.	.	.	.	.	.	.	.	rs373196566	1/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,missense_variant,p.Gly11Cys,ENST00000537253,;NUP153,missense_variant,p.Gly11Cys,ENST00000262077,;RP11-500C11.3,non_coding_transcript_exon_variant,,ENST00000606771,;	31	48	76	SUCCESS
PRL	5617	.	GRCh37	6	22287693	22287693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	60	0	ENST00000306482.1:c.622C>A	p.His208Asn	p.H208N	ENST00000306482	NM_000948.5	208	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS4548.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATGTGAAT	NONE	.	.	hmmpanther:PTHR11417:SF5,hmmpanther:PTHR11417,PROSITE_patterns:PS00338,Pfam_domain:PF00103,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266,Prints_domain:PR00836	.	.	ENSP00000302150	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000306482	Transcript	.	.	ENSG00000172179	9445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.2)	.	PRL_HUMAN	PRL	HGNC	Q5THQ0_HUMAN,Q5I0G2_HUMAN	.	UPI0000001C13	SNV	PRL,missense_variant,p.His208Asn,ENST00000306482,;RP3-404K8.2,intron_variant,,ENST00000561912,;	1141	60	136	SUCCESS
HIST1H3D	0	.	GRCh37	6	26197264	26197264	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	262	59	184	1	ENST00000377831.5:c.215T>G	p.Val72Gly	p.V72G	ENST00000377831	NM_003530.4	72	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS4590.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGACTAGA	NONE	.	.	hmmpanther:PTHR11426,PROSITE_patterns:PS00959,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000367062	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377831	Transcript	.	.	ENSG00000197409	4767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.01)	.	H31_HUMAN	HIST1H3D	HGNC	.	.	UPI00000003C7	SNV	HIST1H3D,missense_variant,p.Val72Gly,ENST00000377831,;HIST1H3D,missense_variant,p.Val72Gly,ENST00000356476,;HIST1H2BF,upstream_gene_variant,,ENST00000359985,;HIST1H2AD,downstream_gene_variant,,ENST00000341023,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;	669	185	321	SUCCESS
HIST1H2BJ	0	.	GRCh37	6	27100194	27100194	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	31	86	0	ENST00000607124.1:c.336G>T	p.Val112=	p.V112=	ENST00000607124		112	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4618.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGACACGGC	NONE	.	.	Prints_domain:PR00621,Superfamily_domains:SSF47113,SMART_domains:SM00427,Gene3D:1.10.20.10,PROSITE_patterns:PS00357,hmmpanther:PTHR23428	.	.	ENSP00000476136	.	1/2	.	.	.	.	.	.	.	.	COSM451057	1/2	PASS	ENST00000607124	Transcript	.	.	ENSG00000124635	4761	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	H2B1J_HUMAN	HIST1H2BJ	HGNC	.	.	UPI0000001BD5	SNV	HIST1H2BJ,synonymous_variant,p.%3D,ENST00000541790,;HIST1H2BJ,synonymous_variant,p.%3D,ENST00000339812,;HIST1H2BJ,synonymous_variant,p.%3D,ENST00000607124,;HIST1H2BJ,intron_variant,,ENST00000606923,;HIST1H2AG,upstream_gene_variant,,ENST00000359193,;	336	86	161	SUCCESS
PRSS16	10279	.	GRCh37	6	27216671	27216671	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752229354	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	52	193	1	ENST00000230582.3:c.283A>T	p.Ile95Leu	p.I95L	ENST00000230582	NM_005865.3	95	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS4623.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCATATTC	NONE	.	.	hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474	.	.	ENSP00000230582	.	3/12	.	.	.	.	.	.	.	.	rs752229354	3/12	PASS	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	deleterious(0.01)	.	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,missense_variant,p.Ile95Leu,ENST00000230582,;PRSS16,intron_variant,,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000485993,;PRSS16,upstream_gene_variant,,ENST00000475106,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,missense_variant,p.Ile95Leu,ENST00000470870,;PRSS16,missense_variant,p.Ile95Leu,ENST00000454665,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000468930,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000462664,;	298	194	270	SUCCESS
POM121L2	94026	.	GRCh37	6	27279131	27279131	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	91	0	ENST00000444565.1:c.819T>A	p.Ser273Arg	p.S273R	ENST00000444565	NM_033482.3	273	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS59497.1	819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACACTTCT	NONE	.	.	Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	.	.	ENSP00000392726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444565	Transcript	.	.	ENSG00000158553	13973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.21)	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,missense_variant,p.Ser273Arg,ENST00000444565,;POM121L2,missense_variant,p.Ser273Arg,ENST00000377451,;POM121L2,upstream_gene_variant,,ENST00000429945,;	819	91	142	SUCCESS
ZSCAN23	222696	.	GRCh37	6	28402633	28402633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	60	140	0	ENST00000289788.4:c.779A>G	p.Gln260Arg	p.Q260R	ENST00000289788	NM_001012455.1	260	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS47393.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGGGTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23226:SF62,hmmpanther:PTHR23226,PROSITE_profiles:PS50157	.	.	ENSP00000289788	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000289788	Transcript	.	.	ENSG00000187987	21193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	ZSC23_HUMAN	ZSCAN23	HGNC	.	.	UPI000019874A	SNV	ZSCAN23,missense_variant,p.Gln260Arg,ENST00000289788,;ZSCAN23,downstream_gene_variant,,ENST00000486481,;ZSCAN23,3_prime_UTR_variant,,ENST00000481983,;	925	140	258	SUCCESS
ZNF311	282890	.	GRCh37	6	28962885	28962885	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	35	118	0	ENST00000377179.3:c.1894A>G	p.Arg632Gly	p.R632G	ENST00000377179	NM_001010877.2	632	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS34357.1	1894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTTTTCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF273,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000366384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377179	Transcript	.	.	ENSG00000197935	13847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	deleterious(0)	.	ZN311_HUMAN	ZNF311	HGNC	.	.	UPI000020D71E	SNV	ZNF311,missense_variant,p.Arg632Gly,ENST00000377179,;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,;	2407	118	198	SUCCESS
GABBR1	2550	.	GRCh37	6	29591692	29591692	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs907203508	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	52	194	0	ENST00000377034.4:c.767C>A	p.Ala256Asp	p.A256D	ENST00000377034	NM_001470.2	256	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4663.1	767	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCAGCCTCA	NONE	.	.	hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01176,Prints_domain:PR01177	.	.	ENSP00000366233	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Ala194Asp,ENST00000377016,;GABBR1,missense_variant,p.Ala256Asp,ENST00000376977,;GABBR1,missense_variant,p.Ala139Asp,ENST00000355973,;GABBR1,missense_variant,p.Ala139Asp,ENST00000377012,;GABBR1,missense_variant,p.Ala256Asp,ENST00000377034,;GABBR1,missense_variant,p.Ala256Asp,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000485508,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000477029,;GABBR1,upstream_gene_variant,,ENST00000494634,;GABBR1,downstream_gene_variant,,ENST00000489385,;	1103	194	255	SUCCESS
GABBR1	2550	.	GRCh37	6	29599361	29599361	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	30	121	0	ENST00000377034.4:c.101A>T	p.His34Leu	p.H34L	ENST00000377034	NM_001470.2	34	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS4663.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGTGTATG	NONE	.	.	SMART_domains:SM00032	.	.	ENSP00000366233	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious_low_confidence(0.03)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.His34Leu,ENST00000462632,;GABBR1,missense_variant,p.His34Leu,ENST00000377016,;GABBR1,missense_variant,p.His34Leu,ENST00000376977,;GABBR1,missense_variant,p.His39Leu,ENST00000476670,;GABBR1,missense_variant,p.His34Leu,ENST00000377034,;GABBR1,upstream_gene_variant,,ENST00000355973,;GABBR1,upstream_gene_variant,,ENST00000377012,;GABBR1,missense_variant,p.His34Leu,ENST00000485508,;GABBR1,missense_variant,p.His34Leu,ENST00000494877,;GABBR1,missense_variant,p.His34Leu,ENST00000472823,;GABBR1,missense_variant,p.His34Leu,ENST00000491829,;GABBR1,missense_variant,p.His34Leu,ENST00000489385,;GABBR1,non_coding_transcript_exon_variant,,ENST00000467259,;SUMO2P1,downstream_gene_variant,,ENST00000445436,;	437	121	139	SUCCESS
DPCR1	0	.	GRCh37	6	30917770	30917770	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	48	109	1	ENST00000462446.1:c.1529A>G	p.Glu510Gly	p.E510G	ENST00000462446		510	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4692.2	1529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGAGAAAA	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.19)	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Glu510Gly,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	1557	110	171	SUCCESS
MUC21	394263	.	GRCh37	6	30955854	30955854	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	37	171	0	ENST00000376296.3:c.1584A>C	p.Pro528=	p.P528=	ENST00000376296	NM_001010909.2	528	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34388.1	1584	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAGGCCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF14654	.	.	ENSP00000365473	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376296	Transcript	.	.	ENSG00000204544	21661	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MUC21_HUMAN	MUC21	HGNC	.	.	UPI000047030C	SNV	MUC21,synonymous_variant,p.%3D,ENST00000376296,;MUC21,synonymous_variant,p.%3D,ENST00000486149,;	1825	172	229	SUCCESS
C6orf47-AS1	106480731	.	GRCh37	6	31627616	31627616	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	43	151	0	ENST00000422049.1:n.352-561C>A		p.*118*	ENST00000422049		37		0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34399.1	109	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTCCGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14307:SF0,hmmpanther:PTHR14307,Pfam_domain:PF15576	.	.	ENSP00000365076	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375911	Transcript	.	.	ENSG00000204439	19076	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CF047_HUMAN	C6orf47	HGNC	.	.	UPI000014109C	SNV	C6orf47,stop_gained,p.Glu37Ter,ENST00000375911,;GPANK1,downstream_gene_variant,,ENST00000375906,;APOM,downstream_gene_variant,,ENST00000375920,;APOM,downstream_gene_variant,,ENST00000375918,;APOM,downstream_gene_variant,,ENST00000375916,;GPANK1,downstream_gene_variant,,ENST00000445768,;GPANK1,downstream_gene_variant,,ENST00000458083,;GPANK1,downstream_gene_variant,,ENST00000375900,;GPANK1,downstream_gene_variant,,ENST00000375895,;GPANK1,downstream_gene_variant,,ENST00000375896,;GPANK1,downstream_gene_variant,,ENST00000375893,;GPANK1,downstream_gene_variant,,ENST00000456540,;C6orf47-AS1,intron_variant,,ENST00000422049,;Y_RNA,upstream_gene_variant,,ENST00000364337,;	934	151	233	SUCCESS
C6orf25	0	.	GRCh37	6	31691511	31691511	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	68	0	ENST00000375806.2:c.157T>C	p.Cys53Arg	p.C53R	ENST00000375806		53	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS4715.1	157	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCTGCAAG	NONE	.	.	Pfam_domain:PF15096	.	.	ENSP00000364964	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000375806	Transcript	.	.	ENSG00000204420	13937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	G6B_HUMAN	C6orf25	HGNC	.	.	UPI000006DE84	SNV	C6orf25,missense_variant,p.Cys53Arg,ENST00000375809,;C6orf25,missense_variant,p.Cys53Arg,ENST00000375804,;C6orf25,missense_variant,p.Cys53Arg,ENST00000375806,;C6orf25,missense_variant,p.Cys53Arg,ENST00000375814,;C6orf25,missense_variant,p.Cys53Arg,ENST00000480039,;C6orf25,missense_variant,p.Cys53Arg,ENST00000375805,;C6orf25,missense_variant,p.Cys53Arg,ENST00000375810,;DDAH2,downstream_gene_variant,,ENST00000375787,;DDAH2,downstream_gene_variant,,ENST00000375792,;DDAH2,downstream_gene_variant,,ENST00000375789,;DDAH2,downstream_gene_variant,,ENST00000437288,;LY6G6C,upstream_gene_variant,,ENST00000375819,;LY6G6C,upstream_gene_variant,,ENST00000495859,;DDAH2,downstream_gene_variant,,ENST00000416410,;DDAH2,downstream_gene_variant,,ENST00000436437,;DDAH2,downstream_gene_variant,,ENST00000483792,;DDAH2,downstream_gene_variant,,ENST00000480913,;C6orf25,missense_variant,p.Cys53Arg,ENST00000485548,;C6orf25,non_coding_transcript_exon_variant,,ENST00000471545,;C6orf25,non_coding_transcript_exon_variant,,ENST00000460663,;C6orf25,non_coding_transcript_exon_variant,,ENST00000466312,;DDAH2,downstream_gene_variant,,ENST00000488119,;DDAH2,downstream_gene_variant,,ENST00000469963,;	157	68	81	SUCCESS
VWA7	80737	.	GRCh37	6	31735467	31735467	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765412999	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	38	96	0	ENST00000375688.4:c.1568G>T	p.Gly523Val	p.G523V	ENST00000375688		523	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4721.2	1568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCCATCC	NONE	.	.	hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	.	.	ENSP00000364840	.	11/17	.	.	.	.	.	.	.	.	rs765412999	11/17	PASS	ENST00000375688	Transcript	.	.	ENSG00000204396	13939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.21)	.	VWA7_HUMAN	VWA7	HGNC	.	.	UPI0000E5AD19	SNV	VWA7,missense_variant,p.Gly523Val,ENST00000375686,;VWA7,missense_variant,p.Gly523Val,ENST00000447450,;VWA7,missense_variant,p.Gly523Val,ENST00000375688,;SAPCD1,downstream_gene_variant,,ENST00000415669,;MSH5,downstream_gene_variant,,ENST00000375755,;SAPCD1,downstream_gene_variant,,ENST00000425424,;MSH5,downstream_gene_variant,,ENST00000534153,;SAPCD1,downstream_gene_variant,,ENST00000433778,;SAPCD1-AS1,upstream_gene_variant,,ENST00000419679,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,downstream_gene_variant,,ENST00000487013,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000491552,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000498473,;SAPCD1,downstream_gene_variant,,ENST00000494299,;VWA7,upstream_gene_variant,,ENST00000486423,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000493662,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000476085,;	1769	96	179	SUCCESS
HSPA1L	3305	.	GRCh37	6	31779395	31779395	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	396	131	307	1	ENST00000375654.4:c.355G>T	p.Glu119Ter	p.E119*	ENST00000375654	NM_005527.3	119	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34413.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTCAGGGT	NONE	.	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,stop_gained,p.Glu119Ter,ENST00000417199,;HSPA1L,stop_gained,p.Glu119Ter,ENST00000375654,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000375651,;LSM2,upstream_gene_variant,,ENST00000375661,;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;	545	309	528	SUCCESS
HSPA1B	3304	.	GRCh37	6	31795883	31795883	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	48	158	0	ENST00000375650.3:c.156G>T	p.Gly52=	p.G52=	ENST00000375650	NM_005346.4	52	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34415.1	156	RADIA|MUSE|VARSCANS	.	ATCGGGGATGC	NONE	.	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.30.420.40,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF155	.	.	ENSP00000364801	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375650	Transcript	.	.	ENSG00000204388	5233	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HSP71_HUMAN	HSPA1B	HGNC	A8K5I0_HUMAN	.	UPI0000000C40	SNV	HSPA1B,synonymous_variant,p.%3D,ENST00000375650,;HSPA1B,intron_variant,,ENST00000545241,;	372	158	274	SUCCESS
SLC44A4	80736	.	GRCh37	6	31839119	31839119	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	6	110	0	ENST00000229729.6:c.673T>G	p.Phe225Val	p.F225V	ENST00000229729	NM_025257.2	225	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS4724.2	673	MUTECT|MUSE	.	GGCAAAATCTT	NONE	.	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37	.	.	ENSP00000229729	.	9/21	.	.	.	.	.	.	.	.	COSM1077732	9/21	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.007)	.	deleterious(0.02)	1	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,missense_variant,p.Phe221Val,ENST00000414427,;SLC44A4,missense_variant,p.Phe149Val,ENST00000544672,;SLC44A4,missense_variant,p.Phe225Val,ENST00000229729,;SLC44A4,missense_variant,p.Phe183Val,ENST00000375562,;SLC44A4,downstream_gene_variant,,ENST00000462671,;SLC44A4,downstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000479777,;SLC44A4,upstream_gene_variant,,ENST00000475563,;	694	110	158	SUCCESS
TUBB2B	347733	.	GRCh37	6	3227741	3227741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	18	0	ENST00000259818.7:c.37G>T	p.Gly13Cys	p.G13C	ENST00000259818	NM_178012.4	13	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS4485.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCCGCACT	NONE	.	.	Prints_domain:PR01161,Superfamily_domains:SSF52490,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF56	.	.	ENSP00000259818	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000259818	Transcript	.	.	ENSG00000137285	30829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	TBB2B_HUMAN	TUBB2B	HGNC	O43209_HUMAN,A1L195_HUMAN	.	UPI0000024E6E	SNV	TUBB2B,missense_variant,p.Gly13Cys,ENST00000259818,;PSMG4,upstream_gene_variant,,ENST00000380306,;TUBB2B,intron_variant,,ENST00000473006,;PSMG4,upstream_gene_variant,,ENST00000416079,;PSMG4,upstream_gene_variant,,ENST00000509933,;	229	18	35	SUCCESS
HLA-DMB	3109	.	GRCh37	6	32905064	32905064	+	synonymous_variant	Silent	SNP	A	A	G	rs147622332	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	351	68	237	1	ENST00000418107.2:c.507T>C	p.Asn169=	p.N169=	ENST00000418107	NM_002118.4	169	aaT/aaC	0	G:0.0005	G:0	.	G:0	.	G	N	protein_coding	YES	CCDS4760.1	507	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCATTGGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19944:SF51,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	G:0.0069	G:0	ENSP00000398890	G:0	3/6	.	.	.	.	.	.	.	.	rs147622332	3/6	PASS	ENST00000418107	Transcript	.	G:0.0016	ENSG00000242574	4935	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0.001	.	.	DMB_HUMAN	HLA-DMB	HGNC	B4DVC2_HUMAN	.	UPI0000140DCC	SNV	HLA-DMB,synonymous_variant,p.%3D,ENST00000416244,;HLA-DMB,synonymous_variant,p.%3D,ENST00000414017,;HLA-DMB,synonymous_variant,p.%3D,ENST00000438510,;HLA-DMB,synonymous_variant,p.%3D,ENST00000418107,;XXbac-BPG181M17.5,downstream_gene_variant,,ENST00000429234,;AL645941.1,upstream_gene_variant,,ENST00000390777,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000498020,;HLA-DMB,upstream_gene_variant,,ENST00000487996,;HLA-DMB,upstream_gene_variant,,ENST00000477537,;	770	238	419	SUCCESS
ITPR3	3710	.	GRCh37	6	33646238	33646238	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	75	176	1	ENST00000374316.5:c.3689A>G	p.Gln1230Arg	p.Q1230R	ENST00000374316		1230	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4783.1	3689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCAGTTCC	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000363435	.	30/59	.	.	.	.	.	.	.	.	.	30/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	tolerated(0.19)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Gln1230Arg,ENST00000374316,;ITPR3,missense_variant,p.Gln1230Arg,ENST00000605930,;	4749	177	268	SUCCESS
GRM4	2914	.	GRCh37	6	34003458	34003458	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs746461387	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	278	59	203	0	ENST00000538487.2:c.2429A>T	p.Gln810Leu	p.Q810L	ENST00000538487	NM_000841.2	810	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4787.1	2429	RADIA|MUTECT|MUSE|VARSCANS	.	CCGACTGCGAG	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF00003	.	.	ENSP00000440556	.	9/11	.	.	.	.	.	.	.	.	rs746461387	9/11	PASS	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.848)	.	deleterious(0.01)	.	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,missense_variant,p.Gln641Leu,ENST00000544773,;GRM4,missense_variant,p.Gln810Leu,ENST00000374181,;GRM4,missense_variant,p.Gln677Leu,ENST00000609222,;GRM4,missense_variant,p.Gln670Leu,ENST00000455714,;GRM4,missense_variant,p.Gln677Leu,ENST00000535756,;GRM4,missense_variant,p.Gln694Leu,ENST00000374177,;GRM4,missense_variant,p.Gln810Leu,ENST00000538487,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	2873	203	337	SUCCESS
ZNF76	7629	.	GRCh37	6	35260758	35260758	+	synonymous_variant	Silent	SNP	G	G	T	rs780848659	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	50	143	0	ENST00000373953.3:c.1266G>T	p.Ala422=	p.A422=	ENST00000373953	NM_003427.3	422	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4801.1	1266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGATGGT	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448	.	.	ENSP00000363064	.	11/14	.	.	.	.	.	.	.	.	rs780848659	11/14	PASS	ENST00000373953	Transcript	.	.	ENSG00000065029	13149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF76_HUMAN	ZNF76	HGNC	E7EX64_HUMAN	.	UPI000013C41C	SNV	ZNF76,synonymous_variant,p.%3D,ENST00000440666,;ZNF76,synonymous_variant,p.%3D,ENST00000339411,;ZNF76,synonymous_variant,p.%3D,ENST00000373953,;ZNF76,downstream_gene_variant,,ENST00000469195,;DEF6,upstream_gene_variant,,ENST00000542066,;ZNF76,upstream_gene_variant,,ENST00000498555,;DEF6,upstream_gene_variant,,ENST00000316637,;ZNF76,3_prime_UTR_variant,,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000479226,;ZNF76,downstream_gene_variant,,ENST00000486891,;ZNF76,downstream_gene_variant,,ENST00000491400,;	1532	143	223	SUCCESS
BRPF3	27154	.	GRCh37	6	36169160	36169160	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	18	85	0	ENST00000357641.6:c.1061A>C	p.Gln354Pro	p.Q354P	ENST00000357641	NM_015695.2	354	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS34437.1	1061	RADIA|MUTECT|MUSE|VARSCANS	.	TGCACAGCGGG	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF19,Pfam_domain:PF13832,SMART_domains:SM00249	.	.	ENSP00000350267	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000357641	Transcript	.	.	ENSG00000096070	14256	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BRPF3_HUMAN	BRPF3	HGNC	A8WI62_HUMAN,A8WI61_HUMAN	.	UPI00001C1E4C	SNV	BRPF3,missense_variant,p.Gln354Pro,ENST00000443324,;BRPF3,missense_variant,p.Gln354Pro,ENST00000357641,;BRPF3,missense_variant,p.Gln354Pro,ENST00000534694,;BRPF3,missense_variant,p.Gln354Pro,ENST00000543502,;BRPF3,missense_variant,p.Gln354Pro,ENST00000339717,;BRPF3,missense_variant,p.Gln354Pro,ENST00000534400,;BRPF3,downstream_gene_variant,,ENST00000446974,;BRPF3,downstream_gene_variant,,ENST00000454960,;BRPF3,upstream_gene_variant,,ENST00000527657,;RP1-179N16.6,upstream_gene_variant,,ENST00000526611,;RP1-179N16.6,upstream_gene_variant,,ENST00000499560,;BRPF3,missense_variant,p.Gln327Pro,ENST00000441123,;BRPF3,missense_variant,p.Gln354Pro,ENST00000449261,;BRPF3,missense_variant,p.Gln354Pro,ENST00000532330,;	1314	85	123	SUCCESS
PNPLA1	285848	.	GRCh37	6	36238348	36238348	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	268	102	226	1	ENST00000394571.2:c.112C>T	p.Leu38=	p.L38=	ENST00000394571	NM_001145717.1	38	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54997.1	112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCTGGCC	NONE	.	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23,Pfam_domain:PF01734,Superfamily_domains:SSF52151	.	.	ENSP00000378072	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000394571	Transcript	.	.	ENSG00000180316	21246	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL1_HUMAN	PNPLA1	HGNC	B8XXQ3_HUMAN	.	UPI000189560E	SNV	PNPLA1,synonymous_variant,p.%3D,ENST00000394571,;PNPLA1,synonymous_variant,p.%3D,ENST00000457797,;PNPLA1,intron_variant,,ENST00000312917,;PNPLA1,intron_variant,,ENST00000388715,;	112	228	371	SUCCESS
RNF8	9025	.	GRCh37	6	37349083	37349083	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	38	120	1	ENST00000373479.4:c.1394G>T	p.Ser465Ile	p.S465I	ENST00000373479	NM_003958.3	465	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS4834.1	1394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGCTCAG	NONE	.	.	PIRSF_domain:PIRSF037950,Gene3D:3.30.40.10,hmmpanther:PTHR15067:SF4,hmmpanther:PTHR15067	.	.	ENSP00000362578	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000373479	Transcript	.	.	ENSG00000112130	10071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	deleterious(0)	.	RNF8_HUMAN	RNF8	HGNC	C9J858_HUMAN	.	UPI000013437B	SNV	RNF8,missense_variant,p.Ser465Ile,ENST00000373479,;RNF8,intron_variant,,ENST00000498460,;RNF8,intron_variant,,ENST00000469731,;RNF8,3_prime_UTR_variant,,ENST00000229866,;	1587	121	184	SUCCESS
DNAH8	1769	.	GRCh37	6	38709609	38709609	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	520	142	358	1	ENST00000359357.3:c.588A>T	p.Pro196=	p.P196=	ENST00000359357		196	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	.	588	RADIA|VARSCANS	.	GGGCCAAGTTG	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	6/91	.	.	.	.	.	.	.	.	.	6/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,synonymous_variant,p.%3D,ENST00000359357,;DNAH8,synonymous_variant,p.%3D,ENST00000327475,;DNAH8,synonymous_variant,p.%3D,ENST00000441566,;DNAH8,synonymous_variant,p.%3D,ENST00000449981,;RN7SL465P,upstream_gene_variant,,ENST00000468411,;	842	359	662	SUCCESS
DNAH8	1769	.	GRCh37	6	38994404	38994404	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	55	0	ENST00000359357.3:c.13146T>A	p.Val4382=	p.V4382=	ENST00000359357		4382	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	.	13146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTTCTGAG	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	90/91	.	.	.	.	.	.	.	.	.	90/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,synonymous_variant,p.%3D,ENST00000359357,;DNAH8,synonymous_variant,p.%3D,ENST00000327475,;DNAH8,synonymous_variant,p.%3D,ENST00000441566,;	13400	55	78	SUCCESS
GLP1R	2740	.	GRCh37	6	39040691	39040691	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	38	83	0	ENST00000373256.4:c.563T>A	p.Ile188Asn	p.I188N	ENST00000373256	NM_002062.3	188	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS4839.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATCCTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000362353	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000373256	Transcript	.	.	ENSG00000112164	4324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GLP1R_HUMAN	GLP1R	HGNC	.	.	UPI0000061F20	SNV	GLP1R,missense_variant,p.Ile188Asn,ENST00000373256,;	606	83	140	SUCCESS
KIF6	221458	.	GRCh37	6	39387773	39387773	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	34	90	1	ENST00000287152.7:c.1761T>A	p.Ser587=	p.S587=	ENST00000287152	NM_145027.4	587	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4844.1	1761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGAAAA	NONE	.	.	hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115	.	.	ENSP00000287152	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,synonymous_variant,p.%3D,ENST00000394362,;KIF6,synonymous_variant,p.%3D,ENST00000287152,;KIF6,synonymous_variant,p.%3D,ENST00000373213,;KIF6,synonymous_variant,p.%3D,ENST00000373215,;KIF6,synonymous_variant,p.%3D,ENST00000373216,;KIF6,synonymous_variant,p.%3D,ENST00000229913,;KIF6,synonymous_variant,p.%3D,ENST00000541946,;KIF6,synonymous_variant,p.%3D,ENST00000458470,;KIF6,synonymous_variant,p.%3D,ENST00000538893,;	1856	91	158	SUCCESS
PRPF4B	8899	.	GRCh37	6	4057278	4057278	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	63	0	ENST00000337659.6:c.2590A>G	p.Lys864Glu	p.K864E	ENST00000337659	NM_003913.4	864	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4488.1	2590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTAAAAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF45,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000337194	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000337659	Transcript	.	.	ENSG00000112739	17346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.27)	.	PRP4B_HUMAN	PRPF4B	HGNC	H0YDJ3_HUMAN,F5H2U2_HUMAN	.	UPI000013DD12	SNV	PRPF4B,missense_variant,p.Lys864Glu,ENST00000337659,;PRPF4B,missense_variant,p.Lys850Glu,ENST00000538861,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000466185,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,upstream_gene_variant,,ENST00000494674,;PRPF4B,upstream_gene_variant,,ENST00000490653,;PRPF4B,missense_variant,p.Lys444Glu,ENST00000481109,;PRPF4B,missense_variant,p.Lys864Glu,ENST00000480058,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000463634,;	2690	63	115	SUCCESS
NCR2	9436	.	GRCh37	6	41303577	41303577	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	24	78	0	ENST00000373089.5:c.-38A>T		p.*13*	ENST00000373089	NM_004828.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4855.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGGTGT	NONE	.	.	.	.	.	ENSP00000362181	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000373089	Transcript	.	.	ENSG00000096264	6732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCTR2_HUMAN	NCR2	HGNC	.	.	UPI000006DFB0	SNV	NCR2,5_prime_UTR_variant,,ENST00000373089,;NCR2,5_prime_UTR_variant,,ENST00000373083,;NCR2,upstream_gene_variant,,ENST00000373086,;	51	78	124	SUCCESS
RP11-328M4.3	0	.	GRCh37	6	41470273	41470273	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	561	138	498	2	ENST00000416951.1:n.92G>A		p.*31*	ENST00000416951				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	AGCAAGGGGGA	NONE	.	.	.	.	.	.	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000416951	Transcript	.	.	ENSG00000226917	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-328M4.3	Clone_based_vega_gene	.	.	.	SNV	RP11-328M4.3,non_coding_transcript_exon_variant,,ENST00000416951,;RP11-328M4.2,intron_variant,,ENST00000440194,;	92	501	699	SUCCESS
FRS3	10817	.	GRCh37	6	41739273	41739273	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	15	0	ENST00000259748.2:c.565-2A>T		p.X189_splice	ENST00000259748		189		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4860.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTGGGGA	NONE	.	.	.	.	.	ENSP00000362109	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373018	Transcript	.	.	ENSG00000137218	16970	.	.	HIGH	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRS3_HUMAN	FRS3	HGNC	A6PVU0_HUMAN	.	UPI0000073ACA	SNV	FRS3,splice_acceptor_variant,,ENST00000259748,;FRS3,splice_acceptor_variant,,ENST00000373018,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,;FRS3,downstream_gene_variant,,ENST00000466420,;	.	15	36	SUCCESS
PTK7	5754	.	GRCh37	6	43109672	43109672	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	49	0	ENST00000230419.4:c.1772T>A	p.Phe591Tyr	p.F591Y	ENST00000230419	NM_002821.4	591	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS59021.1	1796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTTTATCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF14,Gene3D:2.60.40.10	.	.	ENSP00000418754	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000481273	Transcript	.	.	ENSG00000112655	9618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	PTK7_HUMAN	PTK7	HGNC	.	.	UPI0001B79423	SNV	PTK7,missense_variant,p.Phe461Tyr,ENST00000349241,;PTK7,missense_variant,p.Phe591Tyr,ENST00000352931,;PTK7,missense_variant,p.Phe599Tyr,ENST00000481273,;PTK7,missense_variant,p.Phe591Tyr,ENST00000230419,;PTK7,missense_variant,p.Phe551Tyr,ENST00000345201,;PTK7,intron_variant,,ENST00000489707,;PTK7,upstream_gene_variant,,ENST00000473339,;PTK7,downstream_gene_variant,,ENST00000481946,;PTK7,missense_variant,p.Phe591Tyr,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;PTK7,non_coding_transcript_exon_variant,,ENST00000470471,;PTK7,upstream_gene_variant,,ENST00000497957,;PTK7,upstream_gene_variant,,ENST00000461389,;PTK7,upstream_gene_variant,,ENST00000494146,;PTK7,upstream_gene_variant,,ENST00000461100,;PTK7,upstream_gene_variant,,ENST00000493339,;	1866	49	83	SUCCESS
CUL9	23113	.	GRCh37	6	43155101	43155101	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	24	96	0	ENST00000252050.4:c.1505T>C	p.Leu502Pro	p.L502P	ENST00000252050	NM_015089.2	502	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4890.1	1505	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTGCTTT	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	6/41	.	.	.	.	.	.	.	.	.	6/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Leu502Pro,ENST00000372647,;CUL9,missense_variant,p.Leu502Pro,ENST00000252050,;CUL9,intron_variant,,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,intron_variant,,ENST00000510282,;CUL9,intron_variant,,ENST00000451399,;	1589	96	172	SUCCESS
POLH	5429	.	GRCh37	6	43555153	43555153	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	78	175	1	ENST00000372236.4:c.417A>T	p.Ala139=	p.A139=	ENST00000372236	NM_006502.2	139	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4902.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCAGACTT	NONE	.	.	PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,Gene3D:3.30.70.270,Pfam_domain:PF00817,PIRSF_domain:PIRSF036603,Superfamily_domains:SSF56672	.	.	ENSP00000361310	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000372236	Transcript	.	.	ENSG00000170734	9181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POLH_HUMAN	POLH	HGNC	Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN	.	UPI000006F8FD	SNV	POLH,synonymous_variant,p.%3D,ENST00000372226,;POLH,synonymous_variant,p.%3D,ENST00000535400,;POLH,synonymous_variant,p.%3D,ENST00000372236,;POLH,downstream_gene_variant,,ENST00000443535,;RP3-337H4.8,downstream_gene_variant,,ENST00000417591,;	712	176	279	SUCCESS
TMEM151B	441151	.	GRCh37	6	44243711	44243711	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	32	0	ENST00000451188.2:c.1148T>A	p.Leu383Gln	p.L383Q	ENST00000451188	NM_001137560.1	383	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS47437.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTGGTGC	NONE	.	.	hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4,Pfam_domain:PF14857	.	.	ENSP00000393161	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000451188	Transcript	.	.	ENSG00000178233	21315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	T151B_HUMAN	TMEM151B	HGNC	.	.	UPI00006C0A4E	SNV	TMEM151B,missense_variant,p.Leu383Gln,ENST00000451188,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,downstream_gene_variant,,ENST00000371504,;TCTE1,downstream_gene_variant,,ENST00000371505,;TCTE1,downstream_gene_variant,,ENST00000371503,;RP11-444E17.6,intron_variant,,ENST00000505802,;	1425	32	52	SUCCESS
CYP39A1	51302	.	GRCh37	6	46620420	46620420	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs555227266	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	33	0	ENST00000275016.2:c.-101A>G		p.*34*	ENST00000275016	NM_001278739.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4916.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTTTCTG	NONE	.	.	.	.	.	ENSP00000275016	.	1/12	.	.	.	.	.	.	.	.	rs555227266	1/12	PASS	ENST00000275016	Transcript	.	.	ENSG00000146233	17449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP39A_HUMAN	CYP39A1	HGNC	.	.	UPI000013DA3D	SNV	CYP39A1,5_prime_UTR_variant,,ENST00000275016,;SLC25A27,upstream_gene_variant,,ENST00000452689,;SLC25A27,upstream_gene_variant,,ENST00000371347,;SLC25A27,upstream_gene_variant,,ENST00000411689,;	104	33	68	SUCCESS
ANKRD66	100287718	.	GRCh37	6	46721651	46721651	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	95	92	0	ENST00000565422.1:c.521T>A	p.Ile174Asn	p.I174N	ENST00000565422	NM_001162435.2	174	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS59024.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGATCTATG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24193,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000454770	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000565422	Transcript	.	.	ENSG00000230062	44669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	ANR66_HUMAN	ANKRD66	HGNC	.	.	UPI0001F7E3C7	SNV	ANKRD66,missense_variant,p.Ile174Asn,ENST00000565422,;ANKRD66,missense_variant,p.Ile57Asn,ENST00000445060,;ANKRD66,missense_variant,p.Ile145Asn,ENST00000536046,;RP11-268F1.3,downstream_gene_variant,,ENST00000438738,;	526	92	181	SUCCESS
GPR116	0	.	GRCh37	6	46826559	46826559	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	38	92	1	ENST00000265417.7:c.3081G>T	p.Leu1027Phe	p.L1027F	ENST00000265417	NM_015234.4	1027	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4919.1	3081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCAAGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000283296	.	17/21	.	.	.	.	.	.	.	.	COSM1546734	17/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	SNV	GPR116,missense_variant,p.Leu456Phe,ENST00000545669,;GPR116,missense_variant,p.Leu1027Phe,ENST00000265417,;GPR116,missense_variant,p.Leu885Phe,ENST00000456426,;GPR116,missense_variant,p.Leu1027Phe,ENST00000283296,;GPR116,missense_variant,p.Leu1027Phe,ENST00000362015,;GPR116,downstream_gene_variant,,ENST00000498632,;	3370	93	141	SUCCESS
GPR110	0	.	GRCh37	6	46976727	46976727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	316	115	254	0	ENST00000371253.2:c.2444A>T	p.Gln815Leu	p.Q815L	ENST00000371253	NM_153840.2	815	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34471.1	2444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTGGCTG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000360299	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.529)	.	deleterious(0.05)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Gln618Leu,ENST00000283297,;GPR110,missense_variant,p.Gln815Leu,ENST00000371253,;GPR110,non_coding_transcript_exon_variant,,ENST00000449332,;GPR110,non_coding_transcript_exon_variant,,ENST00000419892,;GPR110,downstream_gene_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000475745,;	2660	254	431	SUCCESS
MIR206	406989	.	GRCh37	6	52009189	52009189	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	34	137	1	ENST00000384872.1:n.43T>A		p.*15*	ENST00000384872				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATTACTTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384872	Transcript	.	.	ENSG00000207604	31584	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR206	HGNC	.	.	.	SNV	MIR206,non_coding_transcript_exon_variant,,ENST00000384872,;MIR133BHG,downstream_gene_variant,,ENST00000418518,;MIR133B,upstream_gene_variant,,ENST00000362210,;	43	138	186	SUCCESS
FAM83B	222584	.	GRCh37	6	54804890	54804890	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	87	226	0	ENST00000306858.7:c.1121A>T	p.Gln374Leu	p.Q374L	ENST00000306858	NM_001010872.2	374	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS34479.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCAGTTTC	NONE	.	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4	.	.	ENSP00000304078	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000306858	Transcript	.	.	ENSG00000168143	21357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.15)	.	FA83B_HUMAN	FAM83B	HGNC	.	.	UPI00001D81EC	SNV	FAM83B,missense_variant,p.Gln374Leu,ENST00000306858,;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	1237	226	380	SUCCESS
FAM83B	222584	.	GRCh37	6	54805800	54805800	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	391	109	264	1	ENST00000306858.7:c.2031T>C	p.Pro677=	p.P677=	ENST00000306858	NM_001010872.2	677	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34479.1	2031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCTGGAAA	NONE	.	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4	.	.	ENSP00000304078	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000306858	Transcript	.	.	ENSG00000168143	21357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA83B_HUMAN	FAM83B	HGNC	.	.	UPI00001D81EC	SNV	FAM83B,synonymous_variant,p.%3D,ENST00000306858,;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	2147	266	500	SUCCESS
DST	667	.	GRCh37	6	56328485	56328485	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	27	75	0	ENST00000244364.6:c.14896C>T	p.Arg4966Ter	p.R4966*	ENST00000244364	NM_015548.4	4966	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS47443.1	14896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGGAAAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000244364	.	81/84	.	.	.	.	.	.	.	.	.	81/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,stop_gained,p.Arg7078Ter,ENST00000446842,;DST,stop_gained,p.Arg5207Ter,ENST00000370788,;DST,stop_gained,p.Arg4966Ter,ENST00000244364,;DST,stop_gained,p.Arg7293Ter,ENST00000361203,;DST,stop_gained,p.Arg7582Ter,ENST00000370754,;DST,stop_gained,p.Arg7404Ter,ENST00000370769,;DST,stop_gained,p.Arg91Ter,ENST00000523292,;DST,stop_gained,p.Arg5289Ter,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,non_coding_transcript_exon_variant,,ENST00000523597,;DST,non_coding_transcript_exon_variant,,ENST00000466429,;DST,non_coding_transcript_exon_variant,,ENST00000482156,;DST,upstream_gene_variant,,ENST00000518464,;DST,downstream_gene_variant,,ENST00000524216,;	15104	75	151	SUCCESS
DST	667	.	GRCh37	6	56497806	56497806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	25	86	0	ENST00000244364.6:c.2040G>T	p.Gln680His	p.Q680H	ENST00000244364	NM_015548.4	680	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47443.1	2040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCTGATG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	14/84	.	.	.	.	.	.	.	.	.	14/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Gln680His,ENST00000439203,;DST,missense_variant,p.Gln680His,ENST00000446842,;DST,missense_variant,p.Gln1006His,ENST00000370788,;DST,missense_variant,p.Gln680His,ENST00000244364,;DST,missense_variant,p.Gln1046His,ENST00000520645,;DST,missense_variant,p.Gln680His,ENST00000370765,;DST,missense_variant,p.Gln1184His,ENST00000370754,;DST,missense_variant,p.Gln1006His,ENST00000361203,;DST,missense_variant,p.Gln1006His,ENST00000370769,;DST,missense_variant,p.Gln1006His,ENST00000312431,;DST,missense_variant,p.Gln1006His,ENST00000421834,;DST,missense_variant,p.Gln680His,ENST00000518935,;DST,upstream_gene_variant,,ENST00000522360,;	2248	86	128	SUCCESS
KIAA1586	57691	.	GRCh37	6	56917944	56917944	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755606740	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	57	123	0	ENST00000370733.4:c.647A>G	p.His216Arg	p.H216R	ENST00000370733	NM_020931.2	216	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS34480.1	647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCATGGTA	NONE	byFrequency	.	.	.	.	ENSP00000359768	.	4/4	.	.	.	.	.	.	.	.	rs755606740	4/4	PASS	ENST00000370733	Transcript	.	.	ENSG00000168116	21360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	deleterious(0.02)	.	K1586_HUMAN	KIAA1586	HGNC	.	.	UPI0000074573	SNV	KIAA1586,missense_variant,p.His216Arg,ENST00000370733,;KIAA1586,missense_variant,p.His189Arg,ENST00000545356,;KIAA1586,downstream_gene_variant,,ENST00000488682,;	854	123	251	SUCCESS
ZNF451	26036	.	GRCh37	6	57011970	57011970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	56	153	1	ENST00000370706.4:c.1087T>A	p.Tyr363Asn	p.Y363N	ENST00000370706	NM_001031623.2	363	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS43477.1	1087	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTTATTGT	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436,SMART_domains:SM00355	.	.	ENSP00000359740	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Tyr363Asn,ENST00000357489,;ZNF451,missense_variant,p.Tyr363Asn,ENST00000370706,;ZNF451,missense_variant,p.Tyr363Asn,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;RP11-203B9.4,downstream_gene_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	1331	154	315	SUCCESS
ZNF451	26036	.	GRCh37	6	57011971	57011971	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	55	154	1	ENST00000370706.4:c.1088A>T	p.Tyr363Phe	p.Y363F	ENST00000370706	NM_001031623.2	363	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS43477.1	1088	RADIA|VARSCANS	.	AGGTTATTGTC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436,SMART_domains:SM00355	.	.	ENSP00000359740	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	tolerated(0.19)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Tyr363Phe,ENST00000357489,;ZNF451,missense_variant,p.Tyr363Phe,ENST00000370706,;ZNF451,missense_variant,p.Tyr363Phe,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;RP11-203B9.4,downstream_gene_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	1332	155	315	SUCCESS
LGSN	51557	.	GRCh37	6	63990332	63990334	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	72	0	ENST00000370657.4:c.1122_1124del	p.Lys374_Asp375delinsAsn	p.K374_D375delinsN	ENST00000370657		374	aaAGAc/aac	0	.	.	.	.	.	-	KD/N	protein_coding	YES	CCDS4964.1	1122-1124	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCAGGTCTTTCCT	NONE	.	.	Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	deletion	LGSN,inframe_deletion,p.Lys374_Asp375delinsAsn,ENST00000370657,;LGSN,3_prime_UTR_variant,,ENST00000370658,;LGSN,intron_variant,,ENST00000485906,;	1156-1158	72	68	SUCCESS
PHF3	23469	.	GRCh37	6	64389990	64389990	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	57	138	0	ENST00000262043.3:c.334A>T	p.Arg112Trp	p.R112W	ENST00000262043		112	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4966.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACAGGAAC	NONE	.	.	hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914	.	.	ENSP00000262043	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000262043	Transcript	.	.	ENSG00000118482	8921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PHF3_HUMAN	PHF3	HGNC	E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN	.	UPI000007154D	SNV	PHF3,missense_variant,p.Arg112Trp,ENST00000393387,;PHF3,missense_variant,p.Arg24Trp,ENST00000481385,;PHF3,missense_variant,p.Arg112Trp,ENST00000509330,;PHF3,missense_variant,p.Arg112Trp,ENST00000262043,;PHF3,missense_variant,p.Arg42Trp,ENST00000514822,;PHF3,missense_variant,p.Arg65Trp,ENST00000494284,;PHF3,5_prime_UTR_variant,,ENST00000515594,;PHF3,intron_variant,,ENST00000506783,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	674	138	117	SUCCESS
LMBRD1	55788	.	GRCh37	6	70411411	70411411	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	84	197	0	ENST00000370577.3:c.1007del	p.Gly336GlufsTer2	p.G336Efs*2	ENST00000370577	NM_018368.3	336	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS4969.1	1007	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTATTCCAGCT	NONE	.	.	hmmpanther:PTHR16130:SF2,hmmpanther:PTHR16130	.	.	ENSP00000359609	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000370577	Transcript	.	.	ENSG00000168216	23038	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMBD1_HUMAN	LMBRD1	HGNC	.	.	UPI000003ED25	deletion	LMBRD1,frameshift_variant,p.Gly263GlufsTer2,ENST00000370570,;LMBRD1,frameshift_variant,p.Gly336GlufsTer2,ENST00000370577,;LMBRD1,frameshift_variant,p.Gly336GlufsTer2,ENST00000472827,;NPM1P37,downstream_gene_variant,,ENST00000403105,;	1237	197	291	SUCCESS
RIMS1	22999	.	GRCh37	6	72892030	72892030	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	118	277	0	ENST00000521978.1:c.856C>G	p.Leu286Val	p.L286V	ENST00000521978	NM_014989.5	286	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS47449.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCTGAAG	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	6/34	.	.	.	.	.	.	.	.	.	6/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.55)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Leu286Val,ENST00000518273,;RIMS1,missense_variant,p.Leu286Val,ENST00000491071,;RIMS1,missense_variant,p.Leu286Val,ENST00000517960,;RIMS1,missense_variant,p.Leu286Val,ENST00000522291,;RIMS1,missense_variant,p.Leu286Val,ENST00000264839,;RIMS1,missense_variant,p.Leu286Val,ENST00000348717,;RIMS1,missense_variant,p.Leu286Val,ENST00000520567,;RIMS1,missense_variant,p.Leu286Val,ENST00000521978,;RIMS1,upstream_gene_variant,,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	856	277	261	SUCCESS
DSP	1832	.	GRCh37	6	7556029	7556029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	117	1	ENST00000379802.3:c.249G>T	p.Met83Ile	p.M83I	ENST00000379802	NM_004415.2	83	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4501.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGCGAGC	NONE	.	.	hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.366)	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Met83Ile,ENST00000379802,;DSP,missense_variant,p.Met83Ile,ENST00000418664,;DSP,upstream_gene_variant,,ENST00000506617,;	590	118	171	SUCCESS
DSP	1832	.	GRCh37	6	7581019	7581019	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	69	108	1	ENST00000379802.3:c.4596G>T	p.Glu1532Asp	p.E1532D	ENST00000379802	NM_004415.2	1532	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS4501.1	4596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGCAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Glu1532Asp,ENST00000379802,;DSP,intron_variant,,ENST00000418664,;	4937	109	255	SUCCESS
DSP	1832	.	GRCh37	6	7581656	7581656	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	243	69	184	1	ENST00000379802.3:c.5233A>G	p.Lys1745Glu	p.K1745E	ENST00000379802	NM_004415.2	1745	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4501.1	5233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATAAAAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Lys1745Glu,ENST00000379802,;DSP,intron_variant,,ENST00000418664,;	5574	185	312	SUCCESS
IMPG1	3617	.	GRCh37	6	76744355	76744355	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778173374	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	97	1	ENST00000369950.3:c.451C>A	p.Leu151Met	p.L151M	ENST00000369950	NM_001563.2	151	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS4985.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAGGTGCT	BUFFER|p.Q148K|c.442C>A|3	.	.	hmmpanther:PTHR12199	.	.	ENSP00000358966	.	3/17	.	.	.	.	.	.	.	.	rs778173374	3/17	PASS	ENST00000369950	Transcript	.	.	ENSG00000112706	6055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	IMPG1_HUMAN	IMPG1	HGNC	H0UI08_HUMAN	.	UPI0000073F12	SNV	IMPG1,missense_variant,p.Leu151Met,ENST00000369950,;IMPG1,missense_variant,p.Leu73Met,ENST00000369963,;	641	98	95	SUCCESS
TTK	7272	.	GRCh37	6	80746315	80746315	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	80	0	ENST00000369798.2:c.2048A>G	p.Gln683Arg	p.Q683R	ENST00000369798	NM_003318.4	683	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4993.1	2048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGGTAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000358813	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000369798	Transcript	.	.	ENSG00000112742	12401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	deleterious(0.01)	.	TTK_HUMAN	TTK	HGNC	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN	.	UPI0000073C7B	SNV	TTK,missense_variant,p.Gln683Arg,ENST00000369798,;TTK,missense_variant,p.Gln682Arg,ENST00000509894,;TTK,missense_variant,p.Gln682Arg,ENST00000230510,;TTK,upstream_gene_variant,,ENST00000504590,;	2159	80	96	SUCCESS
EEF1E1	9521	.	GRCh37	6	8097609	8097609	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	56	141	0	ENST00000379715.5:c.179T>C	p.Leu60Ser	p.L60S	ENST00000379715	NM_004280.4	60	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS4507.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCAAATAT	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF143,hmmpanther:PTHR11260,Gene3D:3.40.30.10,Superfamily_domains:SSF47616	.	.	ENSP00000369038	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000379715	Transcript	.	.	ENSG00000124802	3212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MCA3_HUMAN	EEF1E1	HGNC	.	.	UPI000012ED5C	SNV	EEF1E1,missense_variant,p.Leu60Ser,ENST00000379715,;EEF1E1,missense_variant,p.Leu72Ser,ENST00000488226,;EEF1E1,missense_variant,p.Leu47Ser,ENST00000502429,;EEF1E1,missense_variant,p.Leu60Ser,ENST00000507463,;EEF1E1,missense_variant,p.Leu60Ser,ENST00000429723,;EEF1E1,upstream_gene_variant,,ENST00000515633,;EEF1E1-BLOC1S5,missense_variant,p.Leu60Ser,ENST00000397456,;	236	141	208	SUCCESS
TPBG	7162	.	GRCh37	6	83074944	83074944	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	32	0	ENST00000369750.3:c.266T>A	p.Leu89Gln	p.L89Q	ENST00000369750		89	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4995.1	266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTGCCCG	NONE	.	.	hmmpanther:PTHR24364,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000358765	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369750	Transcript	.	.	ENSG00000146242	12004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TPBG_HUMAN	TPBG	HGNC	A8K555_HUMAN	.	UPI000004CAD5	SNV	TPBG,missense_variant,p.Leu89Gln,ENST00000369750,;TPBG,missense_variant,p.Leu89Gln,ENST00000535040,;TPBG,missense_variant,p.Leu89Gln,ENST00000543496,;	883	32	22	SUCCESS
RIPPLY2	134701	.	GRCh37	6	84563092	84563092	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	9	0	ENST00000369689.1:c.-44T>C		p.*15*	ENST00000369689	NM_001009994.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34493.1	.	MUTECT|MUSE	.	AAGATTGCCCG	NONE	.	.	.	.	.	ENSP00000358703	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369689	Transcript	.	.	ENSG00000203877	21390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIPP2_HUMAN	RIPPLY2	HGNC	.	.	UPI00001604A2	SNV	RIPPLY2,5_prime_UTR_variant,,ENST00000369689,;RIPPLY2,upstream_gene_variant,,ENST00000369687,;	108	9	10	SUCCESS
SPACA1	81833	.	GRCh37	6	88757710	88757710	+	synonymous_variant	Silent	SNP	G	G	A	rs376457887	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	45	98	0	ENST00000237201.1:c.87G>A	p.Gly29=	p.G29=	ENST00000237201	NM_030960.2	29	ggG/ggA	0	A:0	.	.	.	.	A	G	protein_coding	YES	CCDS5014.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGGACCAA	NONE	byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR14997,hmmpanther:PTHR14997:SF2	.	A:0.0001	ENSP00000237201	.	1/7	.	.	.	.	.	.	.	.	rs376457887	1/7	PASS	ENST00000237201	Transcript	.	.	ENSG00000118434	14967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SACA1_HUMAN	SPACA1	HGNC	.	.	UPI000003F5A0	SNV	SPACA1,synonymous_variant,p.%3D,ENST00000237201,;	204	98	98	SUCCESS
GPR22	2845	.	GRCh37	7	107114661	107114661	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	79	164	0	ENST00000304402.4:c.156T>A	p.Ile52=	p.I52=	ENST00000304402	NM_005295.2	52	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5744.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTGTGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24241:SF1,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304402	Transcript	.	.	ENSG00000172209	4477	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR22_HUMAN	GPR22	HGNC	Q59G39_HUMAN,A4D0R8_HUMAN	.	UPI000013E975	SNV	GPR22,synonymous_variant,p.%3D,ENST00000304402,;COG5,intron_variant,,ENST00000347053,;COG5,intron_variant,,ENST00000393603,;COG5,intron_variant,,ENST00000297135,;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;	1499	164	187	SUCCESS
LAMB4	22798	.	GRCh37	7	107706917	107706917	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755148173	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	115	0	ENST00000205386.4:c.2575A>T	p.Ser859Cys	p.S859C	ENST00000205386		859	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS34732.1	2575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTGGGAA	NONE	byFrequency	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000373433	.	20/34	.	.	.	.	.	.	.	.	rs755148173	20/34	PASS	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.591)	.	deleterious(0.02)	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	SNV	LAMB4,missense_variant,p.Ser859Cys,ENST00000388781,;LAMB4,missense_variant,p.Ser859Cys,ENST00000388780,;LAMB4,missense_variant,p.Ser859Cys,ENST00000205386,;LAMB4,upstream_gene_variant,,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,upstream_gene_variant,,ENST00000471677,;	2659	115	109	SUCCESS
NRCAM	4897	.	GRCh37	7	107820770	107820770	+	synonymous_variant	Silent	SNP	C	C	T	rs1331489205	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	56	98	0	ENST00000379028.3:c.2748G>A	p.Pro916=	p.P916=	ENST00000379028		916	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47686.1	2748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCGGCAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000368314	.	25/33	.	.	.	.	.	.	.	.	COSM1488123,COSM1488122	25/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,synonymous_variant,p.%3D,ENST00000379022,;NRCAM,synonymous_variant,p.%3D,ENST00000351718,;NRCAM,synonymous_variant,p.%3D,ENST00000413765,;NRCAM,synonymous_variant,p.%3D,ENST00000379024,;NRCAM,synonymous_variant,p.%3D,ENST00000379028,;NRCAM,synonymous_variant,p.%3D,ENST00000425651,;NRCAM,upstream_gene_variant,,ENST00000445634,;NRCAM,upstream_gene_variant,,ENST00000465585,;NRCAM,upstream_gene_variant,,ENST00000415105,;	3219	98	96	SUCCESS
FOXP2	93986	.	GRCh37	7	114268855	114268855	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	15	0	ENST00000350908.4:c.396+123T>A		p.*132*	ENST00000350908				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCTAGAAC	NONE	.	.	.	.	.	ENSP00000386200	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408937	Transcript	.	.	ENSG00000128573	13875	.	.	MODIFIER	5/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXP2_HUMAN	FOXP2	HGNC	.	.	UPI000007412B	SNV	FOXP2,intron_variant,,ENST00000452963,;FOXP2,intron_variant,,ENST00000378237,;FOXP2,intron_variant,,ENST00000393500,;FOXP2,intron_variant,,ENST00000393498,;FOXP2,intron_variant,,ENST00000393491,;FOXP2,intron_variant,,ENST00000403559,;FOXP2,intron_variant,,ENST00000360232,;FOXP2,intron_variant,,ENST00000393489,;FOXP2,intron_variant,,ENST00000408937,;FOXP2,intron_variant,,ENST00000390668,;FOXP2,intron_variant,,ENST00000350908,;FOXP2,intron_variant,,ENST00000393494,;FOXP2,intron_variant,,ENST00000393495,;AC020606.1,upstream_gene_variant,,ENST00000580664,;FOXP2,non_coding_transcript_exon_variant,,ENST00000459666,;FOXP2,intron_variant,,ENST00000440349,;FOXP2,intron_variant,,ENST00000441290,;FOXP2,intron_variant,,ENST00000412402,;	.	15	24	SUCCESS
ASZ1	136991	.	GRCh37	7	117003770	117003770	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	25	68	0	ENST00000284629.2:c.1308T>C	p.His436=	p.H436=	ENST00000284629	NM_130768.2	436	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS5772.1	1308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATATGAGT	NONE	.	.	hmmpanther:PTHR24157	.	.	ENSP00000284629	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000284629	Transcript	.	.	ENSG00000154438	1350	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASZ1_HUMAN	ASZ1	HGNC	C9JP59_HUMAN,B7ZM20_HUMAN	.	UPI0000070EE2	SNV	ASZ1,synonymous_variant,p.%3D,ENST00000284629,;ASZ1,3_prime_UTR_variant,,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;	1371	68	81	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117407202	117407202	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	67	0	ENST00000160373.3:c.2807G>T	p.Gly936Val	p.G936V	ENST00000160373	NM_033427.2	936	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5774.1	2807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCCGTGC	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000160373	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated(0.09)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Gly424Val,ENST00000446636,;CTTNBP2,missense_variant,p.Gly936Val,ENST00000160373,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,non_coding_transcript_exon_variant,,ENST00000467088,;	2899	67	73	SUCCESS
CPED1	79974	.	GRCh37	7	120781062	120781062	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	108	0	ENST00000310396.5:c.1881G>T	p.Gly627=	p.G627=	ENST00000310396	NM_024913.4	627	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34739.1	1881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGCCAAG	NONE	.	.	hmmpanther:PTHR14776,Pfam_domain:PF12733	.	.	ENSP00000309772	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000310396	Transcript	.	.	ENSG00000106034	26159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPED1_HUMAN	CPED1	HGNC	Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN	.	UPI000013C813	SNV	CPED1,synonymous_variant,p.%3D,ENST00000423795,;CPED1,synonymous_variant,p.%3D,ENST00000450913,;CPED1,synonymous_variant,p.%3D,ENST00000310396,;CPED1,downstream_gene_variant,,ENST00000443817,;	2348	108	91	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121653036	121653036	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	53	147	0	ENST00000393386.2:c.3936T>A	p.Phe1312Leu	p.F1312L	ENST00000393386	NM_001206838.1	1312	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS34740.1	3936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTTGCTAC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.23)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Phe1312Leu,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000483028,;	4347	147	135	SUCCESS
PAX4	5078	.	GRCh37	7	127255616	127255616	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs766091265	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	57	0	ENST00000341640.2:c.-42T>A		p.*14*	ENST00000341640	NM_006193.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5797.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCACCTCT	NONE	byFrequency	.	.	.	.	ENSP00000339906	.	1/9	.	.	.	.	.	.	.	.	rs766091265	1/9	PASS	ENST00000341640	Transcript	.	.	ENSG00000106331	8618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,5_prime_UTR_variant,,ENST00000463946,;PAX4,5_prime_UTR_variant,,ENST00000341640,;PAX4,intron_variant,,ENST00000338516,;PAX4,intron_variant,,ENST00000378740,;PAX4,5_prime_UTR_variant,,ENST00000483494,;PAX4,upstream_gene_variant,,ENST00000477423,;	165	57	50	SUCCESS
FAM71F2	346653	.	GRCh37	7	128323061	128323061	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761832287	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	98	0	ENST00000480462.1:c.778A>G	p.Lys260Glu	p.K260E	ENST00000480462		260	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS47701.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACAAGATA	NONE	byFrequency	.	hmmpanther:PTHR22574:SF4,hmmpanther:PTHR22574	.	.	ENSP00000420140	.	5/5	.	.	.	.	.	.	.	.	rs761832287	5/5	PASS	ENST00000480462	Transcript	.	.	ENSG00000205085	27998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	tolerated(0.1)	.	F71F2_HUMAN	FAM71F2	HGNC	.	.	UPI0000198E09	SNV	FAM71F2,missense_variant,p.Lys260Glu,ENST00000480462,;FAM71F2,missense_variant,p.Lys251Glu,ENST00000378704,;FAM71F2,3_prime_UTR_variant,,ENST00000477515,;RP11-274B21.8,upstream_gene_variant,,ENST00000605692,;FAM71F2,upstream_gene_variant,,ENST00000461131,;FAM71F2,downstream_gene_variant,,ENST00000460349,;FAM71F2,missense_variant,p.Lys251Glu,ENST00000474069,;FAM71F2,missense_variant,p.Lys251Glu,ENST00000434001,;	884	98	71	SUCCESS
CALU	813	.	GRCh37	7	128394434	128394434	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	99	2	ENST00000249364.4:c.340A>T	p.Lys114Ter	p.K114*	ENST00000249364	NM_001219.4	114	Aag/Tag	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56507.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AGTGGAAGGGG	NONE	.	.	.	.	.	ENSP00000438248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000542996	Transcript	.	.	ENSG00000128595	1458	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CALU_HUMAN	CALU	HGNC	.	.	UPI0001D27CDB	SNV	CALU,stop_gained,p.Lys122Ter,ENST00000535623,;CALU,stop_gained,p.Lys122Ter,ENST00000479257,;CALU,stop_gained,p.Lys114Ter,ENST00000249364,;CALU,stop_gained,p.Lys114Ter,ENST00000535011,;CALU,intron_variant,,ENST00000449187,;CALU,intron_variant,,ENST00000538546,;CALU,intron_variant,,ENST00000542996,;CALU,upstream_gene_variant,,ENST00000493278,;	.	101	115	SUCCESS
CCDC136	64753	.	GRCh37	7	128434789	128434789	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	74	283	1	ENST00000297788.4:c.313G>T	p.Glu105Ter	p.E105*	ENST00000297788	NM_022742.4	105	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47704.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGAGGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,stop_gained,p.Glu105Ter,ENST00000297788,;CCDC136,stop_gained,p.Glu105Ter,ENST00000485998,;CCDC136,stop_gained,p.Glu155Ter,ENST00000464832,;CCDC136,stop_gained,p.Glu105Ter,ENST00000487361,;CCDC136,stop_gained,p.Glu155Ter,ENST00000378685,;CCDC136,downstream_gene_variant,,ENST00000472049,;CCDC136,downstream_gene_variant,,ENST00000459946,;CCDC136,downstream_gene_variant,,ENST00000488925,;	680	284	200	SUCCESS
CCDC136	64753	.	GRCh37	7	128450365	128450365	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	63	136	0	ENST00000297788.4:c.1973T>G	p.Leu658Trp	p.L658W	ENST00000297788	NM_022742.4	658	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS47704.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTTGGAGA	NONE	.	.	hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,missense_variant,p.Leu658Trp,ENST00000297788,;CCDC136,missense_variant,p.Leu535Trp,ENST00000494552,;CCDC136,missense_variant,p.Leu249Trp,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,upstream_gene_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000460941,;CCDC136,downstream_gene_variant,,ENST00000485832,;	2340	136	143	SUCCESS
ATP6V1F	9296	.	GRCh37	7	128505618	128505618	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs750400716	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	71	0	ENST00000249289.4:c.346G>T	p.Glu116Ter	p.E116*	ENST00000249289	NM_004231.3	116	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS56511.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGAAGAC	NONE	byFrequency	.	PIRSF_domain:PIRSF015945,TIGRFAM_domain:TIGR01101,hmmpanther:PTHR13861:SF2,hmmpanther:PTHR13861	.	.	ENSP00000417378	.	3/3	.	.	.	.	.	.	.	.	rs750400716	3/3	PASS	ENST00000492758	Transcript	.	.	ENSG00000128524	16832	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VATF_HUMAN	ATP6V1F	HGNC	.	.	UPI000020FA6C	SNV	ATP6V1F,stop_gained,p.Glu144Ter,ENST00000492758,;ATP6V1F,stop_gained,p.Glu116Ter,ENST00000249289,;RP11-309L24.4,upstream_gene_variant,,ENST00000461420,;RP11-309L24.2,upstream_gene_variant,,ENST00000469965,;KCP,intron_variant,,ENST00000297801,;KCP,intron_variant,,ENST00000492679,;	431	71	61	SUCCESS
KCP	375616	.	GRCh37	7	128543812	128543812	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	57	151	0	ENST00000476647.2:n.760T>A		p.*254*	ENST00000476647				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGCACT	NONE	.	3013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408474	Transcript	.	.	ENSG00000221401	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC025594.1	Clone_based_ensembl_gene	.	.	.	SNV	AC025594.1,upstream_gene_variant,,ENST00000408474,;KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000487494,;KCP,intron_variant,,ENST00000441244,;KCP,intron_variant,,ENST00000297801,;KCP,upstream_gene_variant,,ENST00000479474,;	.	151	143	SUCCESS
PLXNA4	91584	.	GRCh37	7	131908376	131908376	+	synonymous_variant	Silent	SNP	T	T	C	rs1434809484	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	44	120	0	ENST00000321063.4:c.2007A>G	p.Pro669=	p.P669=	ENST00000321063	NM_020911.1	669	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS43646.1	2007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTATGGACT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000352882	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,synonymous_variant,p.%3D,ENST00000321063,;PLXNA4,synonymous_variant,p.%3D,ENST00000359827,;	2970	120	76	SUCCESS
SLC37A3	84255	.	GRCh37	7	140048534	140048534	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	110	0	ENST00000326232.9:c.916A>G	p.Asn306Asp	p.N306D	ENST00000326232	NM_207113.1	306	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS5859.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATTCACTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF11,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,PIRSF_domain:PIRSF002808,Superfamily_domains:SSF103473	.	.	ENSP00000321498	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000326232	Transcript	.	.	ENSG00000157800	20651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SPX3_HUMAN	SLC37A3	HGNC	F8WF28_HUMAN	.	UPI0000141890	SNV	SLC37A3,missense_variant,p.Asn306Asp,ENST00000326232,;SLC37A3,missense_variant,p.Asn306Asp,ENST00000340308,;SLC37A3,missense_variant,p.Asn306Asp,ENST00000447932,;SLC37A3,missense_variant,p.Asn143Asp,ENST00000485861,;SLC37A3,missense_variant,p.Asn85Asp,ENST00000485734,;SLC37A3,3_prime_UTR_variant,,ENST00000429996,;SLC37A3,intron_variant,,ENST00000492027,;SLC37A3,upstream_gene_variant,,ENST00000491357,;SLC37A3,downstream_gene_variant,,ENST00000469193,;SLC37A3,upstream_gene_variant,,ENST00000477006,;SLC37A3,upstream_gene_variant,,ENST00000498469,;SLC37A3,downstream_gene_variant,,ENST00000473707,;SLC37A3,3_prime_UTR_variant,,ENST00000477571,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000460560,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000487319,;SLC37A3,downstream_gene_variant,,ENST00000464834,;SLC37A3,downstream_gene_variant,,ENST00000490760,;SLC37A3,downstream_gene_variant,,ENST00000484416,;SLC37A3,downstream_gene_variant,,ENST00000464865,;SLC37A3,upstream_gene_variant,,ENST00000473060,;	1120	110	84	SUCCESS
DENND2A	27147	.	GRCh37	7	140285439	140285439	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	46	133	0	ENST00000275884.6:c.1195T>C	p.Leu399=	p.L399=	ENST00000275884		399	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43659.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAAGACAC	BUFFER|p.P402S|c.1204C>T|3	.	.	hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288	.	.	ENSP00000275884	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000275884	Transcript	.	.	ENSG00000146966	22212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,synonymous_variant,p.%3D,ENST00000475837,;DENND2A,synonymous_variant,p.%3D,ENST00000496613,;DENND2A,synonymous_variant,p.%3D,ENST00000492720,;DENND2A,synonymous_variant,p.%3D,ENST00000537639,;DENND2A,synonymous_variant,p.%3D,ENST00000275884,;DENND2A,synonymous_variant,p.%3D,ENST00000461883,;	1613	133	121	SUCCESS
MGAM	8972	.	GRCh37	7	141752594	141752594	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1439293104	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	98	1	ENST00000549489.2:c.2969C>T	p.Ser990Phe	p.S990F	ENST00000549489	NM_004668.2	990	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS47727.1	2969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCTTCTG	NONE	.	.	Superfamily_domains:SSF74650,SMART_domains:SM00018,Gene3D:4.10.110.10,Pfam_domain:PF00088,PROSITE_profiles:PS51448	.	.	ENSP00000447378	.	26/48	.	.	.	.	.	.	.	.	.	26/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.45)	.	deleterious(0.03)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Ser990Phe,ENST00000475668,;MGAM,missense_variant,p.Ser990Phe,ENST00000549489,;	3064	99	86	SUCCESS
MGAM	8972	.	GRCh37	7	141755835	141755835	+	synonymous_variant	Silent	SNP	C	C	T	rs1266692848	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	63	0	ENST00000549489.2:c.3519C>T	p.Tyr1173=	p.Y1173=	ENST00000549489	NM_004668.2	1173	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS47727.1	3519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTACATGGG	NONE	.	.	Superfamily_domains:SSF74650	.	.	ENSP00000447378	.	29/48	.	.	.	.	.	.	.	.	.	29/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,synonymous_variant,p.%3D,ENST00000475668,;MGAM,synonymous_variant,p.%3D,ENST00000549489,;	3614	63	52	SUCCESS
MGAM	8972	.	GRCh37	7	141764190	141764190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	94	0	ENST00000549489.2:c.4352A>G	p.Glu1451Gly	p.E1451G	ENST00000549489	NM_004668.2	1451	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47727.1	4352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGAGTCCA	NONE	.	.	Pfam_domain:PF01055	.	.	ENSP00000447378	.	37/48	.	.	.	.	.	.	.	.	.	37/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.37)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Glu1451Gly,ENST00000475668,;MGAM,missense_variant,p.Glu1451Gly,ENST00000549489,;	4447	94	65	SUCCESS
EPHB6	2051	.	GRCh37	7	142563375	142563375	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	89	0	ENST00000392957.2:c.1092C>T	p.Ala364=	p.A364=	ENST00000392957	NM_004445.4	364	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5873.2	1092	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCCCTG	NONE	.	.	hmmpanther:PTHR24416:SF300,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000376684	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000392957	Transcript	.	.	ENSG00000106123	3396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHB6_HUMAN	EPHB6	HGNC	.	.	UPI00006635A8	SNV	EPHB6,synonymous_variant,p.%3D,ENST00000442129,;EPHB6,synonymous_variant,p.%3D,ENST00000411471,;EPHB6,synonymous_variant,p.%3D,ENST00000392957,;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;EPHB6,upstream_gene_variant,,ENST00000486511,;EPHB6,upstream_gene_variant,,ENST00000471581,;	1879	89	44	SUCCESS
CLCN1	1180	.	GRCh37	7	143044041	143044041	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	109	0	ENST00000343257.2:c.2402A>T	p.Glu801Val	p.E801V	ENST00000343257	NM_000083.2	801	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS5881.1	2402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGGTGA	NONE	.	.	Superfamily_domains:SSF54631,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	.	.	ENSP00000339867	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000343257	Transcript	.	.	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Glu801Val,ENST00000343257,;	2489	109	58	SUCCESS
OR2F1	26211	.	GRCh37	7	143657623	143657623	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	54	161	0	ENST00000392899.1:c.560T>A	p.Leu187Gln	p.L187Q	ENST00000392899	NM_012369.2	187	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS5887.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGGCTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF116,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000376633	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392899	Transcript	.	.	ENSG00000213215	8246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	OR2F1_HUMAN	OR2F1	HGNC	.	.	UPI000003FF87	SNV	OR2F1,missense_variant,p.Leu187Gln,ENST00000392899,;RP4-669B10.3,intron_variant,,ENST00000470988,;RP4-669B10.3,downstream_gene_variant,,ENST00000466281,;	597	161	150	SUCCESS
OR6B1	135946	.	GRCh37	7	143701238	143701238	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	55	179	0	ENST00000408922.2:c.149T>A	p.Leu50Gln	p.L50Q	ENST00000408922	NM_001005281.1	50	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS43667.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTGCAAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF174,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000386151	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408922	Transcript	.	.	ENSG00000221813	8354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.34)	.	OR6B1_HUMAN	OR6B1	HGNC	.	.	UPI0000041B18	SNV	OR6B1,missense_variant,p.Leu50Gln,ENST00000408922,;	217	179	142	SUCCESS
OR2A12	346525	.	GRCh37	7	143792917	143792917	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	160	0	ENST00000408949.2:c.717C>A	p.Thr239=	p.T239=	ENST00000408949	NM_001004135.1	239	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43670.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACCTGCTC	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000386174	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408949	Transcript	.	.	ENSG00000221858	15082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O2A12_HUMAN	OR2A12	HGNC	A4D2G4_HUMAN	.	UPI0000061E6F	SNV	OR2A12,synonymous_variant,p.%3D,ENST00000408949,;	777	160	125	SUCCESS
ARHGEF5	7984	.	GRCh37	7	144072605	144072605	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	36	0	ENST00000056217.5:c.4299-2A>T		p.X1433_splice	ENST00000056217	NM_005435.3	1433		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34771.1	.	RADIA|VARSCANS	.	TTTGCAGGGGT	NONE	.	.	.	.	.	ENSP00000056217	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000056217	Transcript	.	.	ENSG00000050327	13209	.	.	HIGH	11/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHG5_HUMAN	ARHGEF5	HGNC	H9XFB6_HUMAN	.	UPI00004028DC	SNV	ARHGEF5,splice_acceptor_variant,,ENST00000056217,;ARHGEF5,splice_acceptor_variant,,ENST00000471847,;ARHGEF5,intron_variant,,ENST00000474817,;	.	36	36	SUCCESS
NOBOX	135935	.	GRCh37	7	144096135	144096135	+	synonymous_variant	Silent	SNP	A	A	G	rs780435197	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	63	151	1	ENST00000467773.1:c.1377T>C	p.Pro459=	p.P459=	ENST00000467773	NM_001080413.3	459	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	.	1377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACAGGGCC	NONE	.	.	hmmpanther:PTHR24329:SF282,hmmpanther:PTHR24329	.	.	ENSP00000419457	.	8/10	.	.	.	.	.	.	.	.	rs780435197	8/10	PASS	ENST00000467773	Transcript	.	.	ENSG00000106410	22448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOBOX_HUMAN	NOBOX	HGNC	.	.	UPI00019B220B	SNV	NOBOX,synonymous_variant,p.%3D,ENST00000223140,;NOBOX,synonymous_variant,p.%3D,ENST00000483238,;NOBOX,synonymous_variant,p.%3D,ENST00000467773,;	1377	152	131	SUCCESS
ZNF786	136051	.	GRCh37	7	148767562	148767562	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	57	104	0	ENST00000491431.1:c.2302A>G	p.Lys768Glu	p.K768E	ENST00000491431	NM_152411.3	768	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS47738.1	2302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTCTTAA	NONE	.	.	hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385	.	.	ENSP00000417470	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000491431	Transcript	.	.	ENSG00000197362	21806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	tolerated(0.1)	.	ZN786_HUMAN	ZNF786	HGNC	H7BXP3_HUMAN,B4DMI1_HUMAN	.	UPI000013FD40	SNV	ZNF786,missense_variant,p.Lys768Glu,ENST00000491431,;ZNF786,missense_variant,p.Lys682Glu,ENST00000316286,;ZNF786,missense_variant,p.Lys731Glu,ENST00000451334,;	2367	104	131	SUCCESS
ZNF786	136051	.	GRCh37	7	148787794	148787794	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	76	0	ENST00000491431.1:c.-62G>T		p.*21*	ENST00000491431	NM_152411.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47738.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACCTGCCC	NONE	.	.	.	.	.	ENSP00000417470	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000491431	Transcript	.	.	ENSG00000197362	21806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN786_HUMAN	ZNF786	HGNC	H7BXP3_HUMAN,B4DMI1_HUMAN	.	UPI000013FD40	SNV	ZNF786,5_prime_UTR_variant,,ENST00000491431,;ZNF786,5_prime_UTR_variant,,ENST00000316286,;ZNF786,5_prime_UTR_variant,,ENST00000451334,;	4	76	60	SUCCESS
NOS3	4846	.	GRCh37	7	150710314	150710314	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	35	0	ENST00000297494.3:c.3107-5T>A		p.X1036_splice	ENST00000297494	NM_000603.4	1036		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5912.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTTGCAGG	NONE	.	.	.	.	.	ENSP00000297494	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	LOW	24/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,splice_region_variant,,ENST00000461406,;NOS3,splice_region_variant,,ENST00000297494,;ATG9B,3_prime_UTR_variant,,ENST00000444312,;ATG9B,3_prime_UTR_variant,,ENST00000605938,;ATG9B,3_prime_UTR_variant,,ENST00000377974,;NOS3,downstream_gene_variant,,ENST00000475017,;NOS3,splice_region_variant,,ENST00000477227,;NOS3,splice_region_variant,,ENST00000468293,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,downstream_gene_variant,,ENST00000476282,;ATG9B,upstream_gene_variant,,ENST00000498521,;ATG9B,downstream_gene_variant,,ENST00000464855,;ATG9B,downstream_gene_variant,,ENST00000473698,;NOS3,downstream_gene_variant,,ENST00000473057,;ATG9B,downstream_gene_variant,,ENST00000486407,;NOS3,splice_region_variant,,ENST00000475454,;ATG9B,downstream_gene_variant,,ENST00000471797,;ATG9B,downstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000469530,;	.	35	39	SUCCESS
FASTK	10922	.	GRCh37	7	150774867	150774867	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1205078858	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	99	0	ENST00000297532.6:c.1040G>A	p.Gly347Asp	p.G347D	ENST00000297532	NM_006712.4	347	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5918.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCCTGTG	NONE	.	.	hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF4	.	.	ENSP00000297532	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000297532	Transcript	.	.	ENSG00000164896	24676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.02)	.	FASTK_HUMAN	FASTK	HGNC	.	.	UPI0000000CBA	SNV	FASTK,missense_variant,p.Gly347Asp,ENST00000297532,;FASTK,missense_variant,p.Gly206Asp,ENST00000353841,;FASTK,missense_variant,p.Gly320Asp,ENST00000482571,;FASTK,3_prime_UTR_variant,,ENST00000540185,;SLC4A2,downstream_gene_variant,,ENST00000413384,;TMUB1,downstream_gene_variant,,ENST00000392818,;SLC4A2,downstream_gene_variant,,ENST00000485713,;SLC4A2,downstream_gene_variant,,ENST00000392826,;TMUB1,downstream_gene_variant,,ENST00000492838,;TMUB1,downstream_gene_variant,,ENST00000488752,;TMUB1,downstream_gene_variant,,ENST00000297533,;SLC4A2,downstream_gene_variant,,ENST00000310317,;SLC4A2,downstream_gene_variant,,ENST00000461735,;TMUB1,downstream_gene_variant,,ENST00000482202,;TMUB1,downstream_gene_variant,,ENST00000462940,;TMUB1,downstream_gene_variant,,ENST00000476627,;RP11-148K1.12,upstream_gene_variant,,ENST00000485974,;FASTK,splice_region_variant,,ENST00000489884,;FASTK,non_coding_transcript_exon_variant,,ENST00000461979,;FASTK,non_coding_transcript_exon_variant,,ENST00000478477,;SLC4A2,downstream_gene_variant,,ENST00000482697,;FASTK,downstream_gene_variant,,ENST00000496663,;FASTK,splice_region_variant,,ENST00000483953,;FASTK,splice_region_variant,,ENST00000482806,;FASTK,splice_region_variant,,ENST00000469237,;FASTK,splice_region_variant,,ENST00000467237,;FASTK,non_coding_transcript_exon_variant,,ENST00000460980,;FASTK,non_coding_transcript_exon_variant,,ENST00000466855,;SLC4A2,downstream_gene_variant,,ENST00000472204,;SLC4A2,downstream_gene_variant,,ENST00000460010,;FASTK,downstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000459800,;SLC4A2,downstream_gene_variant,,ENST00000469467,;FASTK,upstream_gene_variant,,ENST00000465272,;	1118	99	79	SUCCESS
AGAP3	116988	.	GRCh37	7	150839513	150839513	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	100	0	ENST00000397238.2:c.2065A>T	p.Ser689Cys	p.S689C	ENST00000397238	NM_031946.5	689	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS43681.1	2065	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCAGCCTG	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF198,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405	.	.	ENSP00000380413	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000397238	Transcript	.	.	ENSG00000133612	16923	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	AGAP3_HUMAN	AGAP3	HGNC	Q96T14_HUMAN,D3DX07_HUMAN	.	UPI0000DAC777	SNV	AGAP3,missense_variant,p.Ser358Cys,ENST00000463381,;AGAP3,missense_variant,p.Ser182Cys,ENST00000461065,;AGAP3,missense_variant,p.Ser689Cys,ENST00000397238,;AGAP3,downstream_gene_variant,,ENST00000478320,;AGAP3,downstream_gene_variant,,ENST00000485904,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473633,;	2065	100	65	SUCCESS
INTS1	26173	.	GRCh37	7	1513873	1513873	+	synonymous_variant	Silent	SNP	C	C	A	rs769069843	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	18	0	ENST00000404767.3:c.5760G>T	p.Pro1920=	p.P1920=	ENST00000404767	NM_001080453.2	1920	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47526.1	5760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGCGGCTG	NONE	byFrequency	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224,Superfamily_domains:SSF48371	.	.	ENSP00000385722	.	41/48	.	.	.	.	.	.	.	.	rs769069843	41/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,synonymous_variant,p.%3D,ENST00000404767,;INTS1,synonymous_variant,p.%3D,ENST00000389470,;INTS1,upstream_gene_variant,,ENST00000483196,;INTS1,upstream_gene_variant,,ENST00000493446,;INTS1,non_coding_transcript_exon_variant,,ENST00000482994,;INTS1,upstream_gene_variant,,ENST00000479671,;	5846	18	19	SUCCESS
PRPS1L1	221823	.	GRCh37	7	18066634	18066634	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762973547	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	10	162	1	ENST00000506618.2:c.772A>G	p.Ile258Val	p.I258V	ENST00000506618	NM_175886.2	258	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47552.1	772	MUTECT|MUSE	.	AGAAATGGCTG	NONE	.	.	HAMAP:MF_00583_B,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF40,TIGRFAM_domain:TIGR01251,Gene3D:3.40.50.2020,Pfam_domain:PF14572,Superfamily_domains:SSF53271	.	.	ENSP00000424595	.	1/1	.	.	.	.	.	.	.	.	rs762973547	1/1	PASS	ENST00000506618	Transcript	.	.	ENSG00000229937	9463	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.23)	.	.	PRPS1L1	HGNC	.	.	UPI0001881450	SNV	PRPS1L1,missense_variant,p.Ile258Val,ENST00000506618,;	853	163	140	SUCCESS
HDAC9	9734	.	GRCh37	7	18705951	18705951	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	106	1	ENST00000432645.2:c.1574A>G	p.Asn525Ser	p.N525S	ENST00000432645	NM_058176.2	525	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS47553.1	1583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAACAGCA	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.72)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Asn484Ser,ENST00000401921,;HDAC9,missense_variant,p.Asn525Ser,ENST00000405010,;HDAC9,missense_variant,p.Asn481Ser,ENST00000428307,;HDAC9,missense_variant,p.Asn528Ser,ENST00000441542,;HDAC9,missense_variant,p.Asn523Ser,ENST00000417496,;HDAC9,missense_variant,p.Asn512Ser,ENST00000406072,;HDAC9,missense_variant,p.Asn525Ser,ENST00000406451,;HDAC9,missense_variant,p.Asn497Ser,ENST00000456174,;HDAC9,missense_variant,p.Asn525Ser,ENST00000432645,;HDAC9,missense_variant,p.Asn448Ser,ENST00000524023,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1583	107	101	SUCCESS
STK31	56164	.	GRCh37	7	23802521	23802521	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	70	1	ENST00000355870.3:c.1395T>C	p.Asn465=	p.N465=	ENST00000355870	NM_031414.4	465	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS5386.1	1395	MUTECT|VARSCANS	.	CTTAATAAACG	BUFFER|p.R467C|c.1399C>T|3	.	.	hmmpanther:PTHR12302:SF0,hmmpanther:PTHR12302	.	.	ENSP00000348132	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000355870	Transcript	.	.	ENSG00000196335	11407	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STK31_HUMAN	STK31	HGNC	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN	.	UPI0000167B73	SNV	STK31,synonymous_variant,p.%3D,ENST00000428484,;STK31,synonymous_variant,p.%3D,ENST00000354639,;STK31,synonymous_variant,p.%3D,ENST00000355870,;STK31,synonymous_variant,p.%3D,ENST00000433467,;STK31,non_coding_transcript_exon_variant,,ENST00000478321,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;	1514	71	67	SUCCESS
CARD11	84433	.	GRCh37	7	2968233	2968233	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	25	0	ENST00000396946.4:c.1753A>T	p.Ser585Cys	p.S585C	ENST00000396946	NM_032415.4	585	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS5336.2	1753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGCGAT	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	tolerated(0.07)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Ser585Cys,ENST00000396946,;CARD11,missense_variant,p.Ser56Cys,ENST00000355508,;	2157	25	26	SUCCESS
DBNL	28988	.	GRCh37	7	44096470	44096470	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs145524590	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	75	0	ENST00000448521.1:c.442C>A	p.Arg148Ser	p.R148S	ENST00000448521	NM_001014436.2	148	Cgc/Agc	0	T:0.0002	.	.	.	.	A	R/S	protein_coding	YES	CCDS47579.1	442	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCGCTTC	NONE	byCluster	.	hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF12	.	T:0	ENSP00000417653	.	5/13	.	.	.	.	.	.	.	.	rs145524590,COSM3638861,COSM3638860	5/13	PASS	ENST00000468694	Transcript	.	.	ENSG00000136279	2696	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.061)	.	deleterious(0.02)	0,1,1	DBNL_HUMAN	DBNL	HGNC	F2Z2V3_HUMAN	.	UPI000007147D	SNV	DBNL,missense_variant,p.Arg148Ser,ENST00000448521,;DBNL,missense_variant,p.Arg77Ser,ENST00000432854,;DBNL,missense_variant,p.Arg148Ser,ENST00000494774,;DBNL,missense_variant,p.Arg123Ser,ENST00000452943,;DBNL,missense_variant,p.Arg148Ser,ENST00000468694,;DBNL,missense_variant,p.Arg53Ser,ENST00000490734,;DBNL,missense_variant,p.Arg45Ser,ENST00000440166,;DBNL,intron_variant,,ENST00000456905,;DBNL,upstream_gene_variant,,ENST00000452661,;DBNL,non_coding_transcript_exon_variant,,ENST00000497184,;DBNL,3_prime_UTR_variant,,ENST00000464762,;DBNL,3_prime_UTR_variant,,ENST00000458579,;DBNL,3_prime_UTR_variant,,ENST00000485932,;DBNL,3_prime_UTR_variant,,ENST00000441904,;DBNL,3_prime_UTR_variant,,ENST00000498733,;DBNL,3_prime_UTR_variant,,ENST00000429716,;DBNL,3_prime_UTR_variant,,ENST00000411855,;DBNL,3_prime_UTR_variant,,ENST00000439815,;DBNL,3_prime_UTR_variant,,ENST00000441840,;DBNL,non_coding_transcript_exon_variant,,ENST00000449997,;DBNL,non_coding_transcript_exon_variant,,ENST00000423561,;	469	75	80	SUCCESS
TNS3	64759	.	GRCh37	7	47342734	47342734	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	98	0	ENST00000311160.9:c.3271A>T	p.Thr1091Ser	p.T1091S	ENST00000311160	NM_022748.11	1091	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS5506.2	3271	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTCACAC	NONE	.	.	hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	.	ENSP00000381854	.	22/31	.	.	.	.	.	.	.	.	.	22/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(1)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Thr1091Ser,ENST00000398879,;TNS3,missense_variant,p.Thr1091Ser,ENST00000311160,;TNS3,missense_variant,p.Thr1194Ser,ENST00000457718,;TNS3,missense_variant,p.Thr851Ser,ENST00000355730,;	3638	98	91	SUCCESS
ABCA13	154664	.	GRCh37	7	48634410	48634410	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs748383814	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	67	194	2	ENST00000435803.1:c.14744+1G>A		p.X4915_splice	ENST00000435803	NM_152701.3	4915		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47584.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CACAGGTGAGT	NONE	byCluster	.	.	.	.	ENSP00000411096	.	.	.	.	.	.	.	.	.	.	rs748383814	.	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	58/61	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,splice_donor_variant,,ENST00000435803,;ABCA13,splice_donor_variant,,ENST00000544596,;ABCA13,splice_donor_variant,,ENST00000411975,;ABCA13,splice_donor_variant,,ENST00000453246,;	.	196	169	SUCCESS
IKZF1	10320	.	GRCh37	7	50467947	50467947	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	104	0	ENST00000331340.3:c.1182C>T	p.Cys394=	p.C394=	ENST00000331340	NM_006060.4	394	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS59055.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCCAAGA	CODON|p.?|c.161-?_1560+?del|29	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23	.	.	ENSP00000413025	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,synonymous_variant,p.%3D,ENST00000331340,;IKZF1,synonymous_variant,p.%3D,ENST00000349824,;IKZF1,synonymous_variant,p.%3D,ENST00000343574,;IKZF1,synonymous_variant,p.%3D,ENST00000346667,;IKZF1,synonymous_variant,p.%3D,ENST00000357364,;IKZF1,synonymous_variant,p.%3D,ENST00000438033,;IKZF1,synonymous_variant,p.%3D,ENST00000359197,;IKZF1,synonymous_variant,p.%3D,ENST00000439701,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	1255	104	83	SUCCESS
ZNF479	90827	.	GRCh37	7	57188114	57188114	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1554400081	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	62	177	0	ENST00000331162.4:c.1008G>T	p.Trp336Cys	p.W336C	ENST00000331162	NM_033273.1	336	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS43590.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACCAGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,missense_variant,p.Trp336Cys,ENST00000331162,;	1279	177	168	SUCCESS
ZNF479	90827	.	GRCh37	7	57188115	57188115	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373275999	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	62	177	0	ENST00000331162.4:c.1007G>T	p.Trp336Leu	p.W336L	ENST00000331162	NM_033273.1	336	tGg/tTg	0	A:0.0002	.	.	.	.	A	W/L	protein_coding	YES	CCDS43590.1	1007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCAGCTA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	A:0	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	rs373275999	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.69)	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,missense_variant,p.Trp336Leu,ENST00000331162,;	1278	177	167	SUCCESS
RNF216	54476	.	GRCh37	7	5756357	5756357	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	116	0	ENST00000425013.2:c.1514A>C	p.Gln505Pro	p.Q505P	ENST00000425013	NM_207111.3	505	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34594.1	1685	MUTECT|MUSE	.	GATACTGTTCT	NONE	.	.	hmmpanther:PTHR22770:SF13,hmmpanther:PTHR22770	.	.	ENSP00000374552	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000389902	Transcript	.	.	ENSG00000011275	21698	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	RN216_HUMAN	RNF216	HGNC	C9JIV3_HUMAN	.	UPI000013F5B3	SNV	RNF216,missense_variant,p.Gln562Pro,ENST00000389902,;RNF216,missense_variant,p.Gln505Pro,ENST00000425013,;RNF216,upstream_gene_variant,,ENST00000484458,;RNF216,3_prime_UTR_variant,,ENST00000389900,;	1953	116	78	SUCCESS
GRID2IP	392862	.	GRCh37	7	6550307	6550307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	60	0	ENST00000457091.2:c.1586C>A	p.Pro529His	p.P529H	ENST00000457091	NM_001145118.1	529	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47537.1	1586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGGAAGA	NONE	.	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15	.	.	ENSP00000397351	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000457091	Transcript	.	.	ENSG00000215045	18464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	deleterious(0.04)	.	GRD2I_HUMAN	GRID2IP	HGNC	.	.	UPI0001722D0B	SNV	GRID2IP,missense_variant,p.Pro529His,ENST00000457091,;GRID2IP,missense_variant,p.Pro338His,ENST00000452113,;GRID2IP,missense_variant,p.Pro345His,ENST00000435185,;	1586	60	56	SUCCESS
ASL	435	.	GRCh37	7	65541034	65541034	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	155	367	1	ENST00000304874.9:c.-35G>T		p.*12*	ENST00000304874	NM_000048.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5531.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGACCGA	NONE	.	.	.	.	.	ENSP00000307188	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000304874	Transcript	.	.	ENSG00000126522	746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARLY_HUMAN	ASL	HGNC	.	.	UPI0000001634	SNV	ASL,5_prime_UTR_variant,,ENST00000380839,;ASL,5_prime_UTR_variant,,ENST00000395331,;ASL,5_prime_UTR_variant,,ENST00000304874,;ASL,5_prime_UTR_variant,,ENST00000362000,;ASL,5_prime_UTR_variant,,ENST00000395332,;ASL,non_coding_transcript_exon_variant,,ENST00000496336,;ASL,non_coding_transcript_exon_variant,,ENST00000487982,;RP5-1132H15.2,upstream_gene_variant,,ENST00000418542,;	68	368	338	SUCCESS
DTX2	113878	.	GRCh37	7	76112438	76112438	+	synonymous_variant	Silent	SNP	A	A	T	rs773838700	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	144	0	ENST00000324432.5:c.882A>T	p.Pro294=	p.P294=	ENST00000324432	NM_020892.2	294	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5587.1	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCAGGATC	NONE	.	.	hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21	.	.	ENSP00000322885	.	5/12	.	.	.	.	.	.	.	.	rs773838700	5/12	PASS	ENST00000324432	Transcript	.	.	ENSG00000091073	15973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTX2_HUMAN	DTX2	HGNC	Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN	.	UPI00001413A2	SNV	DTX2,synonymous_variant,p.%3D,ENST00000446600,;DTX2,synonymous_variant,p.%3D,ENST00000307569,;DTX2,synonymous_variant,p.%3D,ENST00000324432,;DTX2,synonymous_variant,p.%3D,ENST00000413936,;DTX2,synonymous_variant,p.%3D,ENST00000446820,;DTX2,synonymous_variant,p.%3D,ENST00000430490,;DTX2,downstream_gene_variant,,ENST00000457529,;DTX2,downstream_gene_variant,,ENST00000435861,;DTX2,downstream_gene_variant,,ENST00000456590,;DTX2,downstream_gene_variant,,ENST00000442516,;DTX2,downstream_gene_variant,,ENST00000423646,;DTX2,downstream_gene_variant,,ENST00000451769,;DTX2,downstream_gene_variant,,ENST00000429179,;DTX2,downstream_gene_variant,,ENST00000425780,;DTX2,downstream_gene_variant,,ENST00000438930,;AC007078.4,upstream_gene_variant,,ENST00000479299,;DTX2,downstream_gene_variant,,ENST00000492339,;DTX2,downstream_gene_variant,,ENST00000472426,;	1392	144	128	SUCCESS
CACNA2D1	781	.	GRCh37	7	81714106	81714106	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	102	270	0	ENST00000356253.5:c.637G>T	p.Gly213Cys	p.G213C	ENST00000356253		213	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5598.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCCAGTGG	NONE	.	.	Gene3D:3.30.450.20,Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	7/39	.	.	.	.	.	.	.	.	.	7/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Gly213Cys,ENST00000356253,;CACNA2D1,missense_variant,p.Gly213Cys,ENST00000356860,;CACNA2D1,missense_variant,p.Gly213Cys,ENST00000423588,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000461275,;	976	270	239	SUCCESS
PCLO	27445	.	GRCh37	7	82467649	82467649	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767862283	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	70	0	ENST00000333891.9:c.14107A>G	p.Asn4703Asp	p.N4703D	ENST00000333891	NM_033026.5	4703	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS47630.1	14107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTTAATTT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000334319	.	15/25	.	.	.	.	.	.	.	.	rs767862283	15/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Asn4703Asp,ENST00000333891,;PCLO,missense_variant,p.Asn4703Asp,ENST00000423517,;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,3_prime_UTR_variant,,ENST00000413807,;	14445	70	62	SUCCESS
PCLO	27445	.	GRCh37	7	82580709	82580709	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	44	115	1	ENST00000333891.9:c.9195A>T	p.Thr3065=	p.T3065=	ENST00000333891	NM_033026.5	3065	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS47630.1	9195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCTGTGGA	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	9533	116	90	SUCCESS
PCLO	27445	.	GRCh37	7	82581285	82581285	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	78	148	0	ENST00000333891.9:c.8984C>A	p.Ser2995Tyr	p.S2995Y	ENST00000333891	NM_033026.5	2995	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS47630.1	8984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAGACATG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ser2995Tyr,ENST00000333891,;PCLO,missense_variant,p.Ser2995Tyr,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	9322	148	157	SUCCESS
PCLO	27445	.	GRCh37	7	82764725	82764725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	66	156	0	ENST00000333891.9:c.2141G>T	p.Gly714Val	p.G714V	ENST00000333891	NM_033026.5	714	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS47630.1	2141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCCATGA	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Gly714Val,ENST00000333891,;PCLO,missense_variant,p.Gly714Val,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2479	156	142	SUCCESS
GRM3	2913	.	GRCh37	7	86416372	86416372	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	121	0	ENST00000361669.2:c.1264A>G	p.Met422Val	p.M422V	ENST00000361669	NM_000840.2	422	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS5600.1	1264	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTATGAAG	NONE	.	.	hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000355316	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000361669	Transcript	.	.	ENSG00000198822	4595	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.578)	.	deleterious(0.03)	.	GRM3_HUMAN	GRM3	HGNC	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN	.	UPI0000153EFC	SNV	GRM3,missense_variant,p.Met294Val,ENST00000536043,;GRM3,missense_variant,p.Met422Val,ENST00000439827,;GRM3,missense_variant,p.Met420Val,ENST00000394720,;GRM3,missense_variant,p.Met422Val,ENST00000361669,;GRM3,intron_variant,,ENST00000546348,;GRM3,downstream_gene_variant,,ENST00000454217,;AC005009.2,upstream_gene_variant,,ENST00000418031,;AC005009.2,upstream_gene_variant,,ENST00000452471,;	2363	121	81	SUCCESS
FZD1	8321	.	GRCh37	7	90895564	90895564	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1326242104	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	54	0	ENST00000287934.2:c.1369A>G	p.Ile457Val	p.I457V	ENST00000287934	NM_003505.1	457	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5620.1	1369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCATCAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF81,hmmpanther:PTHR11309,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,missense_variant,p.Ile457Val,ENST00000287934,;	1782	54	52	SUCCESS
SAMD9	54809	.	GRCh37	7	92732405	92732405	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	52	127	2	ENST00000379958.2:c.3006G>A	p.Leu1002=	p.L1002=	ENST00000379958	NM_017654.3	1002	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34680.1	3006	RADIA|SOMATICSNIPER|VARSCANS	.	TTATTCAGGTG	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,synonymous_variant,p.%3D,ENST00000446617,;SAMD9,synonymous_variant,p.%3D,ENST00000379958,;	3276	129	132	SUCCESS
COL1A2	1278	.	GRCh37	7	94040245	94040245	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	104	0	ENST00000297268.6:c.1242T>C	p.Ala414=	p.A414=	ENST00000297268	NM_000089.3	414	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS34682.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTGGCGT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	.	.	ENSP00000297268	.	22/52	.	.	.	.	.	.	.	.	.	22/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,synonymous_variant,p.%3D,ENST00000297268,;COL1A2,upstream_gene_variant,,ENST00000488298,;COL1A2,upstream_gene_variant,,ENST00000473573,;	1713	104	63	SUCCESS
PPP1R9A	55607	.	GRCh37	7	94540283	94540283	+	synonymous_variant	Silent	SNP	T	T	C	rs747634225	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	54	152	0	ENST00000340694.4:c.858T>C	p.Ser286=	p.S286=	ENST00000340694	NM_001166163.1	286	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS55127.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGTACCTC	NONE	.	.	hmmpanther:PTHR16154:SF22,hmmpanther:PTHR16154	.	.	ENSP00000405514	.	2/20	.	.	.	.	.	.	.	.	rs747634225	2/20	PASS	ENST00000433360	Transcript	.	.	ENSG00000158528	14946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEB1_HUMAN	PPP1R9A	HGNC	C9J730_HUMAN,C9J3G5_HUMAN	.	UPI000198CF27	SNV	PPP1R9A,synonymous_variant,p.%3D,ENST00000424654,;PPP1R9A,synonymous_variant,p.%3D,ENST00000456331,;PPP1R9A,synonymous_variant,p.%3D,ENST00000433360,;PPP1R9A,synonymous_variant,p.%3D,ENST00000433881,;PPP1R9A,synonymous_variant,p.%3D,ENST00000289495,;PPP1R9A,synonymous_variant,p.%3D,ENST00000340694,;PPP1R9A,downstream_gene_variant,,ENST00000413325,;PPP1R9A,downstream_gene_variant,,ENST00000422324,;	1140	152	122	SUCCESS
RP1L1	94137	.	GRCh37	8	10465648	10465648	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	18	75	0	ENST00000382483.3:c.5960A>T	p.Gln1987Leu	p.Q1987L	ENST00000382483	NM_178857.5	1987	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS43708.1	5960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	.	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Gln1987Leu,ENST00000382483,;	6184	75	33	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813578	106813578	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377466426	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	128	146	0	ENST00000407775.2:c.1268G>A	p.Ser423Asn	p.S423N	ENST00000407775	NM_012082.3	423	aGc/aAc	0	A:0.0003	.	.	.	.	A	S/N	protein_coding	YES	CCDS47908.1	1268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGCCAAA	NONE	byCluster	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	A:0	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	rs377466426	8/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.08)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Ser291Asn,ENST00000517361,;ZFPM2,missense_variant,p.Ser154Asn,ENST00000378472,;ZFPM2,missense_variant,p.Ser291Asn,ENST00000520492,;ZFPM2,missense_variant,p.Ser423Asn,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1518	146	285	SUCCESS
TRHR	7201	.	GRCh37	8	110100121	110100121	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	321	73	212	0	ENST00000311762.2:c.380T>G	p.Ile127Ser	p.I127S	ENST00000311762	NM_003301.5	127	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS6311.1	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAATCTGTC	BUFFER|p.A126V|c.377C>T|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF115,hmmpanther:PTHR24243,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000430711	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000518632	Transcript	1	.	ENSG00000174417	12299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TRFR_HUMAN	TRHR	HGNC	.	.	UPI0000050437	SNV	TRHR,missense_variant,p.Ile127Ser,ENST00000311762,;TRHR,missense_variant,p.Ile127Ser,ENST00000518632,;	731	212	394	SUCCESS
NUDCD1	84955	.	GRCh37	8	110342128	110342128	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	24	63	0	ENST00000239690.4:c.118+3994C>G		p.*40*	ENST00000239690	NM_032869.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6312.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGGATGC	NONE	.	.	.	.	.	ENSP00000239690	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239690	Transcript	.	.	ENSG00000120526	24306	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUDC1_HUMAN	NUDCD1	HGNC	.	.	UPI000021048A	SNV	NUDCD1,5_prime_UTR_variant,,ENST00000427660,;NUDCD1,intron_variant,,ENST00000239690,;ENY2,upstream_gene_variant,,ENST00000521662,;ENY2,upstream_gene_variant,,ENST00000520147,;ENY2,upstream_gene_variant,,ENST00000521688,;ENY2,upstream_gene_variant,,ENST00000517756,;ENY2,upstream_gene_variant,,ENST00000522407,;NUDCD1,intron_variant,,ENST00000519607,;ENY2,upstream_gene_variant,,ENST00000517311,;NUDCD1,upstream_gene_variant,,ENST00000521439,;ENY2,upstream_gene_variant,,ENST00000518584,;ENY2,upstream_gene_variant,,ENST00000522632,;ENY2,upstream_gene_variant,,ENST00000522766,;ENY2,upstream_gene_variant,,ENST00000339942,;ENY2,upstream_gene_variant,,ENST00000517350,;ENY2,upstream_gene_variant,,ENST00000519754,;ENY2,upstream_gene_variant,,ENST00000523335,;	.	63	116	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110499010	110499010	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	169	212	3	ENST00000378402.5:c.9840A>T	p.Val3280=	p.V3280=	ENST00000378402	NM_177531.4	3280	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS47911.1	9840	RADIA|VARSCANS	.	CGCGTACTGGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Superfamily_domains:SSF51126	.	.	ENSP00000367655	.	59/78	.	.	.	.	.	.	.	.	.	59/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,synonymous_variant,p.%3D,ENST00000526472,;PKHD1L1,synonymous_variant,p.%3D,ENST00000378402,;	9944	215	365	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110509272	110509272	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759444665	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	63	134	0	ENST00000378402.5:c.10452C>G	p.Cys3484Trp	p.C3484W	ENST00000378402	NM_177531.4	3484	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS47911.1	10452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCTGGGA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF13229,SMART_domains:SM00710,Superfamily_domains:SSF51126	.	.	ENSP00000367655	.	64/78	.	.	.	.	.	.	.	.	rs759444665	64/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Cys412Trp,ENST00000526472,;PKHD1L1,missense_variant,p.Cys3484Trp,ENST00000378402,;PKHD1L1,upstream_gene_variant,,ENST00000533183,;	10556	134	301	SUCCESS
CSMD3	114788	.	GRCh37	8	113326785	113326785	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	78	173	0	ENST00000297405.5:c.7422T>A	p.Tyr2474Ter	p.Y2474*	ENST00000297405	NM_198123.1	2474	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS6315.1	7422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGATATCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	48/71	.	.	.	.	.	.	.	.	.	48/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,stop_gained,p.Tyr2404Ter,ENST00000352409,;CSMD3,stop_gained,p.Tyr2370Ter,ENST00000455883,;CSMD3,stop_gained,p.Tyr2474Ter,ENST00000297405,;CSMD3,stop_gained,p.Tyr1744Ter,ENST00000339701,;CSMD3,stop_gained,p.Tyr2434Ter,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7667	173	328	SUCCESS
CSMD3	114788	.	GRCh37	8	113988150	113988150	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773690820	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	138	139	0	ENST00000297405.5:c.1258G>T	p.Ala420Ser	p.A420S	ENST00000297405	NM_198123.1	420	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6315.1	1258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGCTGGAT	NONE	.	.	.	.	.	ENSP00000297405	.	7/71	.	.	.	.	.	.	.	.	rs773690820	7/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.41)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ala420Ser,ENST00000352409,;CSMD3,missense_variant,p.Ala420Ser,ENST00000297405,;CSMD3,missense_variant,p.Ala380Ser,ENST00000343508,;CSMD3,intron_variant,,ENST00000455883,;	1503	139	299	SUCCESS
NOV	0	.	GRCh37	8	120428593	120428593	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	15	20	0	ENST00000259526.3:c.-180C>T		p.*60*	ENST00000259526	NM_002514.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6328.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCAGCCG	NONE	.	.	.	.	.	ENSP00000259526	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,5_prime_UTR_variant,,ENST00000259526,;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,upstream_gene_variant,,ENST00000520082,;	48	20	26	SUCCESS
ENPP2	5168	.	GRCh37	8	120628551	120628551	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	87	67	0	ENST00000075322.6:c.731T>A	p.Leu244Gln	p.L244Q	ENST00000075322	NM_001040092.2	244	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6329.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCAGATGA	NONE	.	.	Superfamily_domains:SSF53649,Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21	.	.	ENSP00000259486	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000259486	Transcript	.	.	ENSG00000136960	3357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ENPP2_HUMAN	ENPP2	HGNC	.	.	UPI000013C57A	SNV	ENPP2,missense_variant,p.Leu244Gln,ENST00000259486,;ENPP2,missense_variant,p.Leu226Gln,ENST00000520066,;ENPP2,missense_variant,p.Leu244Gln,ENST00000075322,;ENPP2,missense_variant,p.Leu240Gln,ENST00000427067,;ENPP2,missense_variant,p.Leu244Gln,ENST00000522826,;ENPP2,3_prime_UTR_variant,,ENST00000518958,;RP11-99I9.2,downstream_gene_variant,,ENST00000519781,;	781	67	183	SUCCESS
FER1L6	654463	.	GRCh37	8	125103740	125103740	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	175	212	2	ENST00000399018.1:c.4468G>A	p.Asp1490Asn	p.D1490N	ENST00000399018		1490	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43767.1	4468	RADIA|SOMATICSNIPER|VARSCANS	.	AGCTGGATGGA	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	34/41	.	.	.	.	.	.	.	.	.	34/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.06)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Asp1490Asn,ENST00000522917,;FER1L6,missense_variant,p.Asp1490Asn,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	4674	214	368	SUCCESS
GSDMC	56169	.	GRCh37	8	130778031	130778031	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	70	0	ENST00000276708.4:c.413T>C	p.Leu138Ser	p.L138S	ENST00000276708	NM_031415.2	138	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS6360.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCAACAGT	NONE	.	.	hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17,Pfam_domain:PF04598	.	.	ENSP00000276708	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000276708	Transcript	.	.	ENSG00000147697	7151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.05)	.	GSDMC_HUMAN	GSDMC	HGNC	.	.	UPI0000071445	SNV	GSDMC,missense_variant,p.Leu138Ser,ENST00000276708,;	1295	70	110	SUCCESS
ADCY8	114	.	GRCh37	8	131955635	131955635	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	71	105	0	ENST00000286355.5:c.1315C>T	p.Leu439Phe	p.L439F	ENST00000286355	NM_001115.2	439	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6363.1	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAGCATCC	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Leu439Phe,ENST00000286355,;ADCY8,missense_variant,p.Leu54Phe,ENST00000522949,;ADCY8,missense_variant,p.Leu439Phe,ENST00000377928,;RP11-737F9.1,non_coding_transcript_exon_variant,,ENST00000523318,;	3408	105	160	SUCCESS
KCNQ3	3786	.	GRCh37	8	133141583	133141583	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761201259	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	41	68	1	ENST00000388996.4:c.2545G>T	p.Gly849Cys	p.G849C	ENST00000388996	NM_004519.3	849	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS34943.1	2545	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGCTGG	NONE	byFrequency	.	Pfam_domain:PF11956	.	.	ENSP00000373648	.	15/15	.	.	.	.	.	.	.	.	rs761201259,COSM3896824	15/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	0,1	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,missense_variant,p.Gly729Cys,ENST00000521134,;KCNQ3,missense_variant,p.Gly849Cys,ENST00000388996,;KCNQ3,missense_variant,p.Gly837Cys,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	2966	70	150	SUCCESS
COL22A1	169044	.	GRCh37	8	139705929	139705929	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	67	0	ENST00000303045.6:c.2714A>C	p.Gln905Pro	p.Q905P	ENST00000303045	NM_152888.1	905	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS6376.1	2714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGTCCC	NONE	.	.	hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	35/65	.	.	.	.	.	.	.	.	.	35/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Gln905Pro,ENST00000303045,;COL22A1,missense_variant,p.Gln905Pro,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	3161	67	120	SUCCESS
DENND3	22898	.	GRCh37	8	142146872	142146872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	49	63	1	ENST00000262585.2:c.127C>A	p.Pro43Thr	p.P43T	ENST00000262585	NM_014957.2	43	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34947.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCCGCAG	NONE	.	.	Pfam_domain:PF03456,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3,PROSITE_profiles:PS50946	.	.	ENSP00000262585	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Pro123Thr,ENST00000519811,;DENND3,missense_variant,p.Pro43Thr,ENST00000424248,;DENND3,missense_variant,p.Pro123Thr,ENST00000518347,;DENND3,missense_variant,p.Pro43Thr,ENST00000262585,;DENND3,missense_variant,p.Pro100Thr,ENST00000518668,;DENND3,missense_variant,p.Pro123Thr,ENST00000523058,;DENND3,missense_variant,p.Pro123Thr,ENST00000520986,;DENND3,missense_variant,p.Pro56Thr,ENST00000519291,;DENND3,upstream_gene_variant,,ENST00000518249,;DENND3,3_prime_UTR_variant,,ENST00000518198,;	405	64	91	SUCCESS
BAI1	0	.	GRCh37	8	143558633	143558633	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	39	0	ENST00000323289.5:c.1216T>G	p.Cys406Gly	p.C406G	ENST00000323289	NM_001702.2	406	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS64985.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGTGCCCA	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Pfam_domain:PF00090,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,PROSITE_profiles:PS50092	.	.	ENSP00000430945	.	5/31	.	.	.	.	.	.	.	.	.	5/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0.01)	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,missense_variant,p.Cys406Gly,ENST00000323289,;BAI1,missense_variant,p.Cys406Gly,ENST00000517894,;BAI1,missense_variant,p.Cys406Gly,ENST00000521208,;BAI1,upstream_gene_variant,,ENST00000518820,;	2110	39	50	SUCCESS
ARC	23237	.	GRCh37	8	143694546	143694546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	46	0	ENST00000356613.2:c.1087G>T	p.Ala363Ser	p.A363S	ENST00000356613	NM_015193.4	363	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34950.1	1087	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCCGCCT	NONE	.	.	hmmpanther:PTHR15962	.	.	ENSP00000349022	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000356613	Transcript	.	.	ENSG00000198576	648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.38)	.	ARC_HUMAN	ARC	HGNC	.	.	UPI0000163B0F	SNV	ARC,missense_variant,p.Ala363Ser,ENST00000356613,;ARC,upstream_gene_variant,,ENST00000581404,;	2288	46	75	SUCCESS
GLI4	2738	.	GRCh37	8	144351615	144351615	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1197379102	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	62	92	0	ENST00000340042.1:c.49G>T	p.Val17Phe	p.V17F	ENST00000340042	NM_138465.3	17	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS6398.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTGTCAGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000345024	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000340042	Transcript	.	.	ENSG00000250571	4320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.01)	.	GLI4_HUMAN	GLI4	HGNC	.	.	UPI0000070432	SNV	GLI4,missense_variant,p.Val17Phe,ENST00000521682,;GLI4,missense_variant,p.Val17Phe,ENST00000344692,;GLI4,missense_variant,p.Val17Phe,ENST00000340042,;GLI4,missense_variant,p.Val17Phe,ENST00000523522,;GLI4,missense_variant,p.Val17Phe,ENST00000520021,;GLI4,missense_variant,p.Val17Phe,ENST00000517468,;ZFP41,intron_variant,,ENST00000522452,;GLI4,upstream_gene_variant,,ENST00000517530,;GLI4,non_coding_transcript_exon_variant,,ENST00000519876,;GLI4,intron_variant,,ENST00000522479,;	134	92	139	SUCCESS
TIGD5	84948	.	GRCh37	8	144681732	144681732	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	37	1	ENST00000321385.3:c.1512G>A	p.Leu504=	p.L504=	ENST00000321385		504	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6406.2	1659	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGCCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000421489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504548	Transcript	.	.	ENSG00000179886	18336	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TIGD5_HUMAN	TIGD5	HGNC	.	.	UPI0001BAE24C	SNV	TIGD5,synonymous_variant,p.%3D,ENST00000504548,;TIGD5,synonymous_variant,p.%3D,ENST00000321385,;EEF1D,upstream_gene_variant,,ENST00000423316,;EEF1D,upstream_gene_variant,,ENST00000528610,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526133,;PYCRL,downstream_gene_variant,,ENST00000220966,;EEF1D,upstream_gene_variant,,ENST00000419152,;EEF1D,upstream_gene_variant,,ENST00000526838,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000395119,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000317198,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000442189,;RP11-661A12.14,upstream_gene_variant,,ENST00000606452,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;	1659	39	61	SUCCESS
ZNF707	286075	.	GRCh37	8	144776308	144776308	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	44	0	ENST00000358656.4:c.724A>G	p.Ser242Gly	p.S242G	ENST00000358656	NM_001100598.1	242	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS47932.1	724	RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCAGCCTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF169,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	.	.	ENSP00000436212	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000532205	Transcript	.	.	ENSG00000181135	27815	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.197)	.	tolerated(0.1)	.	ZN707_HUMAN	ZNF707	HGNC	E9PS67_HUMAN,E9PQ20_HUMAN,E9PNV7_HUMAN,E9PHZ0_HUMAN	.	UPI0000160D8F	SNV	ZNF707,missense_variant,p.Ser242Gly,ENST00000358656,;ZNF707,missense_variant,p.Ser242Gly,ENST00000532205,;ZNF707,missense_variant,p.Ser242Gly,ENST00000532158,;ZNF707,missense_variant,p.Ser242Gly,ENST00000418203,;ZNF707,missense_variant,p.Ser242Gly,ENST00000454097,;ZNF707,downstream_gene_variant,,ENST00000534303,;ZNF707,downstream_gene_variant,,ENST00000442058,;ZNF707,downstream_gene_variant,,ENST00000530574,;ZNF707,downstream_gene_variant,,ENST00000526315,;ZNF707,downstream_gene_variant,,ENST00000529833,;ZNF707,downstream_gene_variant,,ENST00000526970,;RP11-429J17.2,upstream_gene_variant,,ENST00000531565,;ZNF707,non_coding_transcript_exon_variant,,ENST00000527561,;ZNF707,downstream_gene_variant,,ENST00000532571,;ZNF707,downstream_gene_variant,,ENST00000530341,;ZNF707,downstream_gene_variant,,ENST00000531811,;ZNF707,3_prime_UTR_variant,,ENST00000533031,;ZNF707,non_coding_transcript_exon_variant,,ENST00000532486,;ZNF707,downstream_gene_variant,,ENST00000525862,;ZNF707,downstream_gene_variant,,ENST00000532003,;ZNF707,downstream_gene_variant,,ENST00000527293,;ZNF707,downstream_gene_variant,,ENST00000533254,;ZNF707,downstream_gene_variant,,ENST00000534589,;ZNF707,downstream_gene_variant,,ENST00000528134,;ZNF707,downstream_gene_variant,,ENST00000528456,;ZNF707,downstream_gene_variant,,ENST00000525538,;ZNF707,downstream_gene_variant,,ENST00000531254,;ZNF707,downstream_gene_variant,,ENST00000525619,;ZNF707,downstream_gene_variant,,ENST00000531985,;ZNF707,downstream_gene_variant,,ENST00000525185,;	1623	44	85	SUCCESS
DGAT1	8694	.	GRCh37	8	145540683	145540684	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	INS	-	-	CC	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	91	46	63	0	ENST00000528718.1:n.391_391+1dup		p.X131_splice	ENST00000528718		131		0	.	.	.	.	.	CC	.	protein_coding	YES	CCDS6420.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTGACCTCG	NONE	.	.	.	.	.	ENSP00000332258	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	HIGH	15/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	insertion	DGAT1,splice_donor_variant,,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,splice_donor_variant,,ENST00000526479,;DGAT1,splice_donor_variant,,ENST00000527438,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000530661,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,splice_donor_variant,,ENST00000527885,;DGAT1,splice_donor_variant,,ENST00000528718,;DGAT1,splice_donor_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;HSF1,downstream_gene_variant,,ENST00000527328,;	.	63	137	SUCCESS
ZNF252P	286101	.	GRCh37	8	146203004	146203004	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	16	0	ENST00000426361.2:n.1181A>G		p.*394*	ENST00000426361				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTTGTAAG	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426361	Transcript	.	.	ENSG00000196922	13046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF252P	HGNC	.	.	.	SNV	ZNF252P,non_coding_transcript_exon_variant,,ENST00000426361,;ZNF252P,downstream_gene_variant,,ENST00000528392,;ZNF252P,downstream_gene_variant,,ENST00000527222,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000427606,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000592792,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000355436,;	1181	16	48	SUCCESS
ASAH1	427	.	GRCh37	8	17933073	17933073	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	51	134	0	ENST00000262097.6:c.102A>T	p.Ser34=	p.S34=	ENST00000262097	NM_177924.3	34	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6005.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTTGATTT	NONE	.	.	PIRSF_domain:PIRSF017632	.	.	ENSP00000371152	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000381733	Transcript	1	.	ENSG00000104763	735	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASAH1_HUMAN	ASAH1	HGNC	B1B5R9_HUMAN,B1B5Q0_HUMAN,B1B5P7_HUMAN,B1B5P6_HUMAN	.	UPI0000210A34	SNV	ASAH1,synonymous_variant,p.%3D,ENST00000520781,;ASAH1,synonymous_variant,p.%3D,ENST00000314146,;ASAH1,synonymous_variant,p.%3D,ENST00000262097,;ASAH1,synonymous_variant,p.%3D,ENST00000381733,;ASAH1,5_prime_UTR_variant,,ENST00000417108,;ASAH1,non_coding_transcript_exon_variant,,ENST00000520051,;ASAH1,non_coding_transcript_exon_variant,,ENST00000519468,;ASAH1,non_coding_transcript_exon_variant,,ENST00000523593,;ASAH1,non_coding_transcript_exon_variant,,ENST00000519545,;ASAH1,non_coding_transcript_exon_variant,,ENST00000518087,;	317	134	63	SUCCESS
CDCA2	157313	.	GRCh37	8	25319603	25319603	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149260399	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	35	109	1	ENST00000330560.3:c.266G>T	p.Arg89Leu	p.R89L	ENST00000330560	NM_152562.2	89	cGa/cTa	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS6049.1	266	RADIA|SOMATICSNIPER|VARSCANS	.	TAGACGACGTT	NONE	byCluster	.	hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603	.	A:0.0002	ENSP00000328228	.	4/15	.	.	.	.	.	.	.	.	rs149260399,COSM461455	4/15	PASS	ENST00000330560	Transcript	.	.	ENSG00000184661	14623	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.938)	.	deleterious(0)	0,1	CDCA2_HUMAN	CDCA2	HGNC	.	.	UPI000013DF9A	SNV	CDCA2,missense_variant,p.Arg89Leu,ENST00000330560,;CDCA2,missense_variant,p.Arg74Leu,ENST00000380665,;KCTD9,upstream_gene_variant,,ENST00000221200,;KCTD9,upstream_gene_variant,,ENST00000518067,;CDCA2,downstream_gene_variant,,ENST00000518225,;KCTD9,upstream_gene_variant,,ENST00000522493,;KCTD9,upstream_gene_variant,,ENST00000517914,;KCTD9,upstream_gene_variant,,ENST00000518997,;KCTD9,upstream_gene_variant,,ENST00000524217,;KCTD9,upstream_gene_variant,,ENST00000519665,;KCTD9,upstream_gene_variant,,ENST00000521458,;KCTD9,upstream_gene_variant,,ENST00000523140,;KCTD9,upstream_gene_variant,,ENST00000523294,;	743	111	47	SUCCESS
FZD3	7976	.	GRCh37	8	28385435	28385435	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	45	131	0	ENST00000240093.3:c.1158G>C	p.Gly386=	p.G386=	ENST00000240093	NM_017412.3	386	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS6069.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGGTTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000240093	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000240093	Transcript	.	.	ENSG00000104290	4041	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD3_HUMAN	FZD3	HGNC	E5RGI9_HUMAN	.	UPI000003156A	SNV	FZD3,synonymous_variant,p.%3D,ENST00000537916,;FZD3,synonymous_variant,p.%3D,ENST00000240093,;RNA5SP259,upstream_gene_variant,,ENST00000365541,;	1636	131	63	SUCCESS
CSMD1	64478	.	GRCh37	8	3889582	3889582	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	37	110	0	ENST00000537824.1:c.455T>A	p.Leu152Gln	p.L152Q	ENST00000537824	NM_033225.5	152	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS55189.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAGGATT	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	4/70	.	.	.	.	.	.	.	.	.	4/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Leu152Gln,ENST00000400186,;CSMD1,missense_variant,p.Leu152Gln,ENST00000542608,;CSMD1,missense_variant,p.Leu152Gln,ENST00000602723,;CSMD1,missense_variant,p.Leu152Gln,ENST00000539096,;CSMD1,missense_variant,p.Leu152Gln,ENST00000537824,;CSMD1,missense_variant,p.Leu152Gln,ENST00000602557,;CSMD1,missense_variant,p.Leu152Gln,ENST00000520002,;	455	110	45	SUCCESS
ADAM18	8749	.	GRCh37	8	39468562	39468562	+	intron_variant	Intron	SNP	A	A	T	rs113111969	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	13	0	ENST00000265707.5:c.522+337A>T		p.*174*	ENST00000265707	NM_014237.2			0	.	G:0.0038	.	G:0	.	T	.	protein_coding	YES	CCDS6113.1	.	RADIA|MUSE	.	CTTACATACTA	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000265707	G:0	.	.	.	.	.	.	.	.	.	rs113111969	.	PASS	ENST00000265707	Transcript	.	G:0.0010	ENSG00000168619	196	.	.	MODIFIER	6/19	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,3_prime_UTR_variant,,ENST00000520772,;ADAM18,intron_variant,,ENST00000541111,;ADAM18,intron_variant,,ENST00000265707,;ADAM18,intron_variant,,ENST00000379866,;ADAM18,downstream_gene_variant,,ENST00000520559,;ADAM18,intron_variant,,ENST00000520087,;ADAM18,downstream_gene_variant,,ENST00000520001,;	.	13	12	SUCCESS
ANK1	286	.	GRCh37	8	41754027	41754027	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	40	0	ENST00000265709.8:c.-29A>G		p.*10*	ENST00000265709	NM_001142446.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47849.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCTCCTGG	NONE	.	.	.	.	.	ENSP00000265709	.	1/43	.	.	.	.	.	.	.	.	.	1/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,5_prime_UTR_variant,,ENST00000265709,;	254	40	15	SUCCESS
KAT6A	7994	.	GRCh37	8	41798813	41798813	+	synonymous_variant	Silent	SNP	T	T	C	rs1378871985	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	20	77	1	ENST00000265713.2:c.2586A>G	p.Pro862=	p.P862=	ENST00000265713	NM_006766.3	862	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6124.1	2586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGATGGCTG	NONE	.	.	hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615	.	.	ENSP00000380136	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000396930	Transcript	1	.	ENSG00000083168	13013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT6A_HUMAN	KAT6A	HGNC	A5PKX7_HUMAN	.	UPI000013D666	SNV	KAT6A,synonymous_variant,p.%3D,ENST00000396930,;KAT6A,synonymous_variant,p.%3D,ENST00000406337,;KAT6A,synonymous_variant,p.%3D,ENST00000265713,;KAT6A,synonymous_variant,p.%3D,ENST00000418721,;KAT6A,downstream_gene_variant,,ENST00000485568,;	3130	78	29	SUCCESS
IKBKB	3551	.	GRCh37	8	42171857	42171857	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	56	151	0	ENST00000520810.1:c.710A>G	p.Gln237Arg	p.Q237R	ENST00000520810	NM_001556.2	237	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS6128.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCAGAAGA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969,PROSITE_profiles:PS50011	.	.	ENSP00000430684	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000520810	Transcript	1	.	ENSG00000104365	5960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.31)	.	IKKB_HUMAN	IKBKB	HGNC	E5RGW5_HUMAN	.	UPI0000033729	SNV	IKBKB,missense_variant,p.Gln237Arg,ENST00000520810,;IKBKB,missense_variant,p.Gln235Arg,ENST00000520835,;IKBKB,missense_variant,p.Gln178Arg,ENST00000416505,;IKBKB,missense_variant,p.Gln14Arg,ENST00000379708,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,downstream_gene_variant,,ENST00000519735,;IKBKB,upstream_gene_variant,,ENST00000517502,;IKBKB,upstream_gene_variant,,ENST00000522785,;IKBKB,missense_variant,p.Gln237Arg,ENST00000520655,;IKBKB,missense_variant,p.Gln237Arg,ENST00000521661,;IKBKB,missense_variant,p.Gln237Arg,ENST00000523517,;IKBKB,synonymous_variant,p.%3D,ENST00000518679,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,non_coding_transcript_exon_variant,,ENST00000517917,;IKBKB,non_coding_transcript_exon_variant,,ENST00000520201,;IKBKB,non_coding_transcript_exon_variant,,ENST00000518647,;IKBKB,non_coding_transcript_exon_variant,,ENST00000522545,;	896	151	88	SUCCESS
PRKDC	5591	.	GRCh37	8	48695065	48695065	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	35	0	ENST00000314191.2:c.11267A>T	p.Asp3756Val	p.D3756V	ENST00000314191	NM_006904.6	3756	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	.	11267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGTCCTCG	NONE	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,PROSITE_patterns:PS00915,Pfam_domain:PF00454,Gene3D:3.30.1010.10,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000313420	.	80/87	.	.	.	.	.	.	.	.	.	80/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Asp3756Val,ENST00000314191,;PRKDC,missense_variant,p.Asp3756Val,ENST00000338368,;PRKDC,upstream_gene_variant,,ENST00000536429,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000432581,;PRKDC,non_coding_transcript_exon_variant,,ENST00000521331,;PRKDC,upstream_gene_variant,,ENST00000536483,;PRKDC,upstream_gene_variant,,ENST00000536710,;	11324	35	56	SUCCESS
PXDNL	137902	.	GRCh37	8	52320842	52320842	+	synonymous_variant	Silent	SNP	G	G	C	rs777607356	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	65	128	0	ENST00000356297.4:c.3342C>G	p.Pro1114=	p.P1114=	ENST00000356297	NM_144651.4	1114	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47855.1	3342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAGGGTGC	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	rs777607356,COSM343777,COSM343776	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,synonymous_variant,p.%3D,ENST00000543296,;PXDNL,synonymous_variant,p.%3D,ENST00000522933,;PXDNL,synonymous_variant,p.%3D,ENST00000356297,;PXDNL,synonymous_variant,p.%3D,ENST00000522628,;	3443	128	173	SUCCESS
PXDNL	137902	.	GRCh37	8	52321428	52321428	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	60	163	0	ENST00000356297.4:c.2756T>A	p.Leu919His	p.L919H	ENST00000356297	NM_144651.4	919	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS47855.1	2756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAGACCC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Leu919His,ENST00000543296,;PXDNL,missense_variant,p.Leu38His,ENST00000522933,;PXDNL,missense_variant,p.Leu919His,ENST00000356297,;PXDNL,missense_variant,p.Leu185His,ENST00000522628,;	2857	163	185	SUCCESS
FAM150A	0	.	GRCh37	8	53451056	53451056	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	516	151	495	0	ENST00000358543.4:c.337T>C	p.Cys113Arg	p.C113R	ENST00000358543	NM_207413.3	113	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS6150.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACATCTTT	NONE	.	.	Pfam_domain:PF15129	.	.	ENSP00000351345	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000358543	Transcript	.	.	ENSG00000196711	33775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	F150A_HUMAN	FAM150A	HGNC	.	.	UPI00001D6942	SNV	FAM150A,missense_variant,p.Cys113Arg,ENST00000358543,;FAM150A,intron_variant,,ENST00000523939,;	588	495	668	SUCCESS
RGS20	8601	.	GRCh37	8	54764467	54764467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	31	87	0	ENST00000297313.3:c.8A>T	p.Gln3Leu	p.Q3L	ENST00000297313	NM_170587.2	3	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6155.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCAGCTTT	NONE	.	.	.	.	.	ENSP00000297313	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000297313	Transcript	.	.	ENSG00000147509	14600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.06)	.	RGS20_HUMAN	RGS20	HGNC	B3KSW4_HUMAN	.	UPI000013383C	SNV	RGS20,missense_variant,p.Gln3Leu,ENST00000297313,;RGS20,missense_variant,p.Gln3Leu,ENST00000344277,;RGS20,missense_variant,p.Gln3Leu,ENST00000523280,;RGS20,missense_variant,p.Gln3Leu,ENST00000517659,;	100	87	116	SUCCESS
RP1	6101	.	GRCh37	8	55533893	55533893	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769522856	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	82	67	0	ENST00000220676.1:c.367C>T	p.Arg123Cys	p.R123C	ENST00000220676	NM_006269.1	123	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS6160.1	367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGCGCCCG	NONE	byFrequency	.	Superfamily_domains:SSF89837,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs769522856	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0.03)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Arg123Cys,ENST00000220676,;	515	67	126	SUCCESS
PENK	5179	.	GRCh37	8	57354153	57354153	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	21	160	0	ENST00000314922.3:c.482T>A	p.Leu161Gln	p.L161Q	ENST00000314922	NM_006211.3	161	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6168.1	482	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGAAGC	NONE	.	.	Prints_domain:PR01029,hmmpanther:PTHR11438:SF3,hmmpanther:PTHR11438	.	.	ENSP00000324248	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,missense_variant,p.Leu161Gln,ENST00000314922,;PENK,missense_variant,p.Leu161Gln,ENST00000451791,;PENK,intron_variant,,ENST00000517415,;PENK,downstream_gene_variant,,ENST00000518974,;PENK,downstream_gene_variant,,ENST00000523051,;PENK,downstream_gene_variant,,ENST00000518770,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,non_coding_transcript_exon_variant,,ENST00000523274,;PENK,upstream_gene_variant,,ENST00000520589,;PENK,downstream_gene_variant,,ENST00000521153,;	559	160	186	SUCCESS
AGPAT5	55326	.	GRCh37	8	6612657	6612657	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	251	18	490	0	ENST00000285518.6:c.831G>A	p.Met277Ile	p.M277I	ENST00000285518	NM_018361.3	277	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34796.1	831	MUTECT|MUSE	.	CATATGAGAAG	NONE	.	.	hmmpanther:PTHR10983:SF17,hmmpanther:PTHR10983,Superfamily_domains:0039877	.	.	ENSP00000285518	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000285518	Transcript	.	.	ENSG00000155189	20886	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.06)	.	PLCE_HUMAN	AGPAT5	HGNC	Q6NUM7_HUMAN	.	UPI000003B4CB	SNV	AGPAT5,missense_variant,p.Met94Ile,ENST00000518327,;AGPAT5,missense_variant,p.Met277Ile,ENST00000285518,;AGPAT5,non_coding_transcript_exon_variant,,ENST00000530716,;AGPAT5,intron_variant,,ENST00000533159,;AGPAT5,3_prime_UTR_variant,,ENST00000523234,;	1143	490	270	SUCCESS
PPP1R42	286187	.	GRCh37	8	67930067	67930067	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	28	36	0	ENST00000324682.5:c.-84-1G>T		p.X28_splice	ENST00000324682	NM_001013626.2	28		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34902.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCTGAAG	NONE	.	.	.	.	.	ENSP00000315035	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324682	Transcript	.	.	ENSG00000178125	33732	.	.	HIGH	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR42_HUMAN	PPP1R42	HGNC	.	.	UPI00001B5D21	SNV	PPP1R42,splice_acceptor_variant,,ENST00000522909,;PPP1R42,splice_acceptor_variant,,ENST00000324682,;PPP1R42,splice_acceptor_variant,,ENST00000521581,;PPP1R42,splice_acceptor_variant,,ENST00000523545,;PPP1R42,splice_acceptor_variant,,ENST00000517834,;PPP1R42,intron_variant,,ENST00000520633,;PPP1R42,upstream_gene_variant,,ENST00000521410,;PPP1R42,upstream_gene_variant,,ENST00000519919,;PPP1R42,upstream_gene_variant,,ENST00000518588,;PPP1R42,upstream_gene_variant,,ENST00000521040,;	.	36	47	SUCCESS
CSPP1	79848	.	GRCh37	8	67976717	67976717	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	65	74	0	ENST00000262210.5:c.84A>T	p.Arg28=	p.R28=	ENST00000262210	NM_024790.6	28	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS43744.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCGAGCCCG	NONE	.	.	.	.	.	ENSP00000262210	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	CSPP1,synonymous_variant,p.%3D,ENST00000262210,;COPS5,5_prime_UTR_variant,,ENST00000517736,;CSPP1,5_prime_UTR_variant,,ENST00000412460,;CSPP1,intron_variant,,ENST00000521919,;COPS5,upstream_gene_variant,,ENST00000357849,;COPS5,upstream_gene_variant,,ENST00000518747,;COPS5,non_coding_transcript_exon_variant,,ENST00000517793,;COPS5,intron_variant,,ENST00000519963,;COPS5,intron_variant,,ENST00000518768,;COPS5,intron_variant,,ENST00000519057,;CSPP1,5_prime_UTR_variant,,ENST00000519701,;CSPP1,5_prime_UTR_variant,,ENST00000519163,;COPS5,upstream_gene_variant,,ENST00000521509,;COPS5,upstream_gene_variant,,ENST00000523890,;COPS5,upstream_gene_variant,,ENST00000517406,;COPS5,upstream_gene_variant,,ENST00000521386,;COPS5,upstream_gene_variant,,ENST00000518374,;	115	74	108	SUCCESS
CPA6	57094	.	GRCh37	8	68395739	68395739	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	12	11	0	ENST00000297770.4:c.838+264C>G		p.*280*	ENST00000297770	NM_020361.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTGCTGCT	NONE	.	.	.	.	.	ENSP00000297770	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODIFIER	8/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,3_prime_UTR_variant,,ENST00000518549,;CPA6,intron_variant,,ENST00000297769,;CPA6,intron_variant,,ENST00000297770,;CPA6,intron_variant,,ENST00000479862,;	.	11	16	SUCCESS
PREX2	80243	.	GRCh37	8	68965436	68965436	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	118	134	0	ENST00000288368.4:c.1048C>A	p.His350Asn	p.H350N	ENST00000288368	NM_024870.2	350	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS6201.1	1048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCATGAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000288368	.	9/40	.	.	.	.	.	.	.	.	.	9/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.05)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.His350Asn,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	1325	134	176	SUCCESS
TRPA1	8989	.	GRCh37	8	72938310	72938310	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	56	64	1	ENST00000262209.4:c.2938-2A>T		p.X980_splice	ENST00000262209	NM_007332.2	980		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34908.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTAAAGT	NONE	.	.	.	.	.	ENSP00000262209	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	HIGH	24/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,splice_acceptor_variant,,ENST00000523582,;TRPA1,splice_acceptor_variant,,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;TRPA1,upstream_gene_variant,,ENST00000520596,;RP11-383H13.1,upstream_gene_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;	.	65	106	SUCCESS
STMN2	11075	.	GRCh37	8	80553736	80553736	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	17	236	0	ENST00000220876.7:c.239C>T	p.Ser80Phe	p.S80F	ENST00000220876	NM_007029.3	80	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS56542.1	239	MUTECT|MUSE	.	CCTGTCCCTGG	NONE	.	.	PROSITE_profiles:PS51663,hmmpanther:PTHR10104,hmmpanther:PTHR10104:SF18,PROSITE_patterns:PS00563,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285,Superfamily_domains:0043535,Prints_domain:PR00345	.	.	ENSP00000429243	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000518111	Transcript	.	.	ENSG00000104435	10577	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	STMN2_HUMAN	STMN2	HGNC	.	.	UPI0000E21B31	SNV	STMN2,missense_variant,p.Ser80Phe,ENST00000518111,;STMN2,missense_variant,p.Ser69Phe,ENST00000518491,;STMN2,missense_variant,p.Ser80Phe,ENST00000220876,;	283	236	271	SUCCESS
MURC	0	.	GRCh37	9	103348527	103348527	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	142	1	ENST00000307584.5:c.889A>G	p.Ile297Val	p.I297V	ENST00000307584	NM_001018116.2	297	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS35083.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCATTGCC	NONE	.	.	hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF4	.	.	ENSP00000418668	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307584	Transcript	.	.	ENSG00000170681	33742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.96)	.	MURC_HUMAN	MURC	HGNC	.	.	UPI000004CC0D	SNV	MURC,missense_variant,p.Ile297Val,ENST00000307584,;RN7SKP87,upstream_gene_variant,,ENST00000364096,;	954	143	112	SUCCESS
ABCA1	19	.	GRCh37	9	107599794	107599794	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	59	0	ENST00000374736.3:c.1109T>C	p.Ile370Thr	p.I370T	ENST00000374736	NM_005502.3	370	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6762.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAATGCGG	NONE	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229	.	.	ENSP00000363868	.	10/50	.	.	.	.	.	.	.	.	.	10/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.01)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Ile370Thr,ENST00000374736,;	1504	59	58	SUCCESS
SVEP1	79987	.	GRCh37	9	113168473	113168473	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	136	0	ENST00000374469.1:c.9338A>T	p.Glu3113Val	p.E3113V	ENST00000374469		3113	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS48004.1	9407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTCTCCA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	38/48	.	.	.	.	.	.	.	.	.	38/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.875)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Glu3136Val,ENST00000401783,;SVEP1,missense_variant,p.Glu3113Val,ENST00000374469,;SVEP1,missense_variant,p.Glu1062Val,ENST00000297826,;	9744	136	145	SUCCESS
SVEP1	79987	.	GRCh37	9	113341549	113341549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752418570	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	60	0	ENST00000374469.1:c.206C>T	p.Ser69Phe	p.S69F	ENST00000374469		69	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS48004.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGACGAA	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,PROSITE_profiles:PS50234	.	.	ENSP00000384917	.	1/48	.	.	.	.	.	.	.	.	rs752418570	1/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Ser92Phe,ENST00000401783,;SVEP1,missense_variant,p.Ser69Phe,ENST00000374469,;SVEP1,missense_variant,p.Ser92Phe,ENST00000302728,;SVEP1,missense_variant,p.Ser69Phe,ENST00000374461,;	612	60	48	SUCCESS
ZNF483	158399	.	GRCh37	9	114289679	114289679	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	8	93	0	ENST00000309235.5:c.4C>A	p.Gln2Lys	p.Q2K	ENST00000309235	NM_133464.2	2	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS35106.1	4	MUTECT|MUSE	.	CAATGCAAGCT	NONE	.	.	.	.	.	ENSP00000311679	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000309235	Transcript	.	.	ENSG00000173258	23384	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	.	deleterious_low_confidence(0.04)	.	ZN483_HUMAN	ZNF483	HGNC	.	.	UPI00001C1EBF	SNV	ZNF483,missense_variant,p.Gln2Lys,ENST00000309235,;ZNF483,missense_variant,p.Gln2Lys,ENST00000355824,;ZNF483,missense_variant,p.Gln2Lys,ENST00000374374,;ZNF483,missense_variant,p.Gln2Lys,ENST00000358151,;	162	93	112	SUCCESS
NDUFA8	4702	.	GRCh37	9	124922050	124922050	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	43	0	ENST00000373768.3:c.-94G>T		p.*32*	ENST00000373768	NM_014222.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6835.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGCCTGCG	NONE	.	.	.	.	.	ENSP00000362873	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000373768	Transcript	.	.	ENSG00000119421	7692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUA8_HUMAN	NDUFA8	HGNC	.	.	UPI000013CA3A	SNV	NDUFA8,5_prime_UTR_variant,,ENST00000537618,;NDUFA8,5_prime_UTR_variant,,ENST00000373768,;MORN5,upstream_gene_variant,,ENST00000373764,;MORN5,upstream_gene_variant,,ENST00000418632,;MORN5,upstream_gene_variant,,ENST00000536616,;	49	43	50	SUCCESS
CRB2	286204	.	GRCh37	9	126133122	126133122	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	25	0	ENST00000373631.3:c.1790A>T	p.Glu597Val	p.E597V	ENST00000373631	NM_173689.5	597	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6852.2	1790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGAGAACG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24043:SF1,hmmpanther:PTHR24043,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000362734	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000373631	Transcript	.	.	ENSG00000148204	18688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.09)	.	CRUM2_HUMAN	CRB2	HGNC	.	.	UPI000022D9DE	SNV	CRB2,missense_variant,p.Glu265Val,ENST00000373629,;CRB2,missense_variant,p.Glu597Val,ENST00000373631,;CRB2,missense_variant,p.Glu597Val,ENST00000359999,;CRB2,missense_variant,p.Glu265Val,ENST00000460253,;	1791	25	30	SUCCESS
OLFML2A	169611	.	GRCh37	9	127549471	127549471	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	73	0	ENST00000373580.3:c.308A>G	p.Glu103Gly	p.E103G	ENST00000373580	NM_182487.2	103	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS6857.2	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACGAGTGGA	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29	.	.	ENSP00000362682	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,missense_variant,p.Glu103Gly,ENST00000331715,;OLFML2A,missense_variant,p.Glu103Gly,ENST00000373580,;	308	73	64	SUCCESS
LMX1B	4010	.	GRCh37	9	129455877	129455877	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	132	0	ENST00000373474.4:c.816A>T	p.Ala272=	p.A272=	ENST00000373474		272	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55343.1	816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCAAAGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96,PROSITE_patterns:PS00027,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000347684	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000355497	Transcript	.	.	ENSG00000136944	6654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMX1B_HUMAN	LMX1B	HGNC	Q9UE66_HUMAN,B7ZLH2_HUMAN	.	UPI0001CE94D0	SNV	LMX1B,synonymous_variant,p.%3D,ENST00000425646,;LMX1B,synonymous_variant,p.%3D,ENST00000373474,;LMX1B,synonymous_variant,p.%3D,ENST00000526117,;LMX1B,synonymous_variant,p.%3D,ENST00000561065,;LMX1B,synonymous_variant,p.%3D,ENST00000355497,;	823	132	80	SUCCESS
FAM129B	0	.	GRCh37	9	130279260	130279260	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	74	0	ENST00000373312.3:c.849C>A	p.Ala283=	p.A283=	ENST00000373312	NM_022833.2	283	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS35145.1	849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGGCCTG	NONE	.	.	hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392	.	.	ENSP00000362409	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000373312	Transcript	.	.	ENSG00000136830	25282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIBL1_HUMAN	FAM129B	HGNC	Q9H6L6_HUMAN	.	UPI00001592F0	SNV	FAM129B,synonymous_variant,p.%3D,ENST00000373314,;FAM129B,synonymous_variant,p.%3D,ENST00000373312,;FAM129B,intron_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000478917,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,upstream_gene_variant,,ENST00000465154,;	1063	74	53	SUCCESS
CDK9	1025	.	GRCh37	9	130551623	130551623	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	83	0	ENST00000373264.4:c.920A>T	p.Asp307Val	p.D307V	ENST00000373264	NM_001261.3	307	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6879.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGATGACG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF158,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362361	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373264	Transcript	.	.	ENSG00000136807	1780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	CDK9_HUMAN	CDK9	HGNC	.	.	UPI000013D041	SNV	CDK9,missense_variant,p.Asp424Val,ENST00000373265,;CDK9,missense_variant,p.Asp307Val,ENST00000373264,;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,non_coding_transcript_exon_variant,,ENST00000498339,;CDK9,downstream_gene_variant,,ENST00000480353,;CDK9,downstream_gene_variant,,ENST00000491521,;	1020	84	78	SUCCESS
C9orf50	375759	.	GRCh37	9	132375462	132375471	+	frameshift_variant	Frame_Shift_Del	DEL	GAACAGAAGG	GAACAGAAGG	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	GAACAGAAGG	GAACAGAAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	30	97	0	ENST00000372478.4:c.1103_1112del	p.Pro368HisfsTer39	p.P368Hfs*39	ENST00000372478	NM_199350.3	368	cCCTTCTGTTCa/ca	0	.	.	.	.	.	-	PFCS/X	protein_coding	YES	CCDS35159.1	1103-1112	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCATGAACAGAAGGGCAGG	NONE	.	.	.	.	.	ENSP00000361556	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000372478	Transcript	.	.	ENSG00000179058	23677	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CI050_HUMAN	C9orf50	HGNC	.	.	UPI00001D76F7	deletion	C9orf50,frameshift_variant,p.Pro368HisfsTer39,ENST00000372478,;NTMT1,intron_variant,,ENST00000372486,;	1305-1314	97	91	SUCCESS
PRRX2	51450	.	GRCh37	9	132481558	132481558	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	93	0	ENST00000372469.4:c.308A>C	p.Lys103Thr	p.K103T	ENST00000372469	NM_016307.3	103	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS6926.1	308	MUTECT|MUSE	.	GAAGAAGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF46689,Gene3D:1.10.10.60,hmmpanther:PTHR24329:SF249,hmmpanther:PTHR24329,PROSITE_profiles:PS50071	.	.	ENSP00000361547	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000372469	Transcript	.	.	ENSG00000167157	21338	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PRRX2_HUMAN	PRRX2	HGNC	.	.	UPI0000131D13	SNV	PRRX2,missense_variant,p.Lys103Thr,ENST00000372469,;RP11-483H20.6,upstream_gene_variant,,ENST00000440413,;	535	93	73	SUCCESS
RAPGEF1	2889	.	GRCh37	9	134526250	134526250	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	62	159	0	ENST00000372189.3:c.97A>G	p.Lys33Glu	p.K33E	ENST00000372189	NM_005312.2	33	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS48048.1	151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTCTTTG	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40	.	.	ENSP00000361264	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000372190	Transcript	.	.	ENSG00000107263	4568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	RPGF1_HUMAN	RAPGEF1	HGNC	Q5JUE5_HUMAN	.	UPI0000074689	SNV	RAPGEF1,missense_variant,p.Lys50Glu,ENST00000438647,;RAPGEF1,missense_variant,p.Lys51Glu,ENST00000372190,;RAPGEF1,missense_variant,p.Lys51Glu,ENST00000427994,;RAPGEF1,missense_variant,p.Lys50Glu,ENST00000372195,;RAPGEF1,missense_variant,p.Lys33Glu,ENST00000372189,;	310	159	153	SUCCESS
NTNG2	84628	.	GRCh37	9	135114574	135114574	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	97	0	ENST00000393229.3:c.1138A>G	p.Thr380Ala	p.T380A	ENST00000393229	NM_032536.2	380	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS6946.1	1138	MUTECT|MUSE	.	ACAACACGCGA	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,PROSITE_profiles:PS50027	.	.	ENSP00000376921	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000393229	Transcript	.	.	ENSG00000196358	14288	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.926)	.	deleterious(0.05)	.	NTNG2_HUMAN	NTNG2	HGNC	.	.	UPI0000367698	SNV	NTNG2,missense_variant,p.Thr372Ala,ENST00000393228,;NTNG2,missense_variant,p.Thr386Ala,ENST00000360670,;NTNG2,missense_variant,p.Thr380Ala,ENST00000393229,;NTNG2,upstream_gene_variant,,ENST00000483055,;NTNG2,upstream_gene_variant,,ENST00000490694,;	1914	97	72	SUCCESS
GBGT1	26301	.	GRCh37	9	136029632	136029632	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	36	0	ENST00000372040.3:c.376C>G	p.Gln126Glu	p.Q126E	ENST00000372040		126	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS6960.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTGGATGA	NONE	.	.	hmmpanther:PTHR10462:SF29,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448	.	.	ENSP00000361110	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000372040	Transcript	.	.	ENSG00000148288	20460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.38)	.	GBGT1_HUMAN	GBGT1	HGNC	J7Q0Z1_HUMAN,J7PW20_HUMAN	.	UPI000013DB02	SNV	GBGT1,missense_variant,p.Gln126Glu,ENST00000372040,;GBGT1,missense_variant,p.Pro138Arg,ENST00000372038,;GBGT1,missense_variant,p.Gln109Glu,ENST00000540636,;GBGT1,splice_region_variant,,ENST00000372043,;RALGDS,intron_variant,,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000393160,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;	688	36	30	SUCCESS
OBP2B	29989	.	GRCh37	9	136084591	136084591	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	84	417	0	ENST00000372034.3:c.-5T>A		p.*2*	ENST00000372034	NM_014581.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6961.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGAGCT	NONE	.	.	.	.	.	ENSP00000361104	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000372034	Transcript	.	.	ENSG00000171102	23381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OBP2B_HUMAN	OBP2B	HGNC	.	.	UPI00000377BC	SNV	OBP2B,5_prime_UTR_variant,,ENST00000372032,;OBP2B,5_prime_UTR_variant,,ENST00000372034,;OBP2B,non_coding_transcript_exon_variant,,ENST00000461961,;OBP2B,5_prime_UTR_variant,,ENST00000473737,;	38	417	319	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136324153	136324153	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1361529166	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	57	177	1	ENST00000371929.3:c.4135T>C	p.Trp1379Arg	p.W1379R	ENST00000371929	NM_139025.4	1379	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS6970.1	4135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACTGGGAG	NONE	.	.	Superfamily_domains:SSF49854	.	.	ENSP00000360997	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,missense_variant,p.Trp1292Arg,ENST00000356589,;ADAMTS13,missense_variant,p.Trp1379Arg,ENST00000371929,;ADAMTS13,missense_variant,p.Trp175Arg,ENST00000371910,;ADAMTS13,missense_variant,p.Trp1323Arg,ENST00000355699,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;CACFD1,upstream_gene_variant,,ENST00000540581,;CACFD1,upstream_gene_variant,,ENST00000291722,;CACFD1,upstream_gene_variant,,ENST00000542192,;CACFD1,upstream_gene_variant,,ENST00000444798,;CACFD1,upstream_gene_variant,,ENST00000316948,;ADAMTS13,non_coding_transcript_exon_variant,,ENST00000485925,;CACFD1,upstream_gene_variant,,ENST00000474734,;CACFD1,upstream_gene_variant,,ENST00000489519,;	4579	178	128	SUCCESS
SOHLH1	402381	.	GRCh37	9	138589403	138589403	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781520169	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	88	0	ENST00000298466.5:c.416A>T	p.Gln139Leu	p.Q139L	ENST00000298466	NM_001012415.2	139	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS48054.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCTGACTC	NONE	.	.	hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF14	.	.	ENSP00000404438	.	4/8	.	.	.	.	.	.	.	.	rs781520169	4/8	PASS	ENST00000425225	Transcript	.	.	ENSG00000165643	27845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious(0)	.	SOLH1_HUMAN	SOHLH1	HGNC	.	.	UPI0001AE6F1C	SNV	SOHLH1,missense_variant,p.Gln139Leu,ENST00000298466,;SOHLH1,missense_variant,p.Gln139Leu,ENST00000425225,;KCNT1,upstream_gene_variant,,ENST00000298480,;KCNT1,upstream_gene_variant,,ENST00000487664,;KCNT1,upstream_gene_variant,,ENST00000371757,;KCNT1,upstream_gene_variant,,ENST00000460750,;	477	88	63	SUCCESS
LHX3	8022	.	GRCh37	9	139089345	139089345	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	63	1	ENST00000371748.5:c.1020A>C	p.Pro340=	p.P340=	ENST00000371748	NM_178138.4	340	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6995.1	1035	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCTGGGTA	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF65	.	.	ENSP00000360811	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000371746	Transcript	.	.	ENSG00000107187	6595	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LHX3_HUMAN	LHX3	HGNC	F1T0D9_HUMAN,F1T0D8_HUMAN	.	UPI000002AD3D	SNV	LHX3,synonymous_variant,p.%3D,ENST00000371746,;LHX3,synonymous_variant,p.%3D,ENST00000371748,;	1154	65	58	SUCCESS
QSOX2	169714	.	GRCh37	9	139108548	139108548	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	67	1	ENST00000358701.5:c.1107A>T	p.Pro369=	p.P369=	ENST00000358701	NM_181701.3	369	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35178.1	1107	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGACTGGCGG	NONE	.	.	hmmpanther:PTHR22897:SF7,hmmpanther:PTHR22897	.	.	ENSP00000351536	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000358701	Transcript	.	.	ENSG00000165661	30249	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	QSOX2_HUMAN	QSOX2	HGNC	.	.	UPI00004A7AC1	SNV	QSOX2,synonymous_variant,p.%3D,ENST00000455222,;QSOX2,synonymous_variant,p.%3D,ENST00000358701,;	1145	68	55	SUCCESS
GPSM1	26086	.	GRCh37	9	139231978	139231978	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1554769464	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	63	174	1	ENST00000440944.1:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000440944	NM_001145638.2	220	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS48055.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTATTTGT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36,Gene3D:1.25.40.10,Pfam_domain:PF13176,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000392828	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,missense_variant,p.Tyr220Cys,ENST00000440944,;GPSM1,missense_variant,p.Tyr197Cys,ENST00000354753,;GPSM1,missense_variant,p.Tyr220Cys,ENST00000392945,;	879	175	140	SUCCESS
CACNA1B	774	.	GRCh37	9	140773571	140773571	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	45	0	ENST00000371372.1:c.350A>T	p.His117Leu	p.H117L	ENST00000371372	NM_001243812.1	117	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS59522.1	350	RADIA|MUTECT|MUSE	.	GCAGCACCTCC	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	2/47	.	.	.	.	.	.	.	.	.	2/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	deleterious(0.01)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.His117Leu,ENST00000371355,;CACNA1B,missense_variant,p.His117Leu,ENST00000371357,;CACNA1B,missense_variant,p.His117Leu,ENST00000371363,;CACNA1B,missense_variant,p.His117Leu,ENST00000277551,;CACNA1B,missense_variant,p.His117Leu,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;RP11-188C12.3,intron_variant,,ENST00000371390,;RP11-188C12.3,upstream_gene_variant,,ENST00000587008,;	495	45	48	SUCCESS
FREM1	158326	.	GRCh37	9	14859459	14859459	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs375644504	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	46	167	0	ENST00000380880.3:c.353T>G	p.Ile118Arg	p.I118R	ENST00000380880		118	aTa/aGa	0	C:0.0003	.	.	.	.	C	I/R	protein_coding	YES	CCDS47952.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTATGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24	.	C:0	ENSP00000412940	.	5/38	.	.	.	.	.	.	.	.	rs375644504	5/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	deleterious(0.01)	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,missense_variant,p.Ile118Arg,ENST00000380881,;FREM1,missense_variant,p.Ile118Arg,ENST00000380880,;FREM1,missense_variant,p.Ile118Arg,ENST00000422223,;FREM1,missense_variant,p.Ile118Arg,ENST00000380875,;	1169	167	114	SUCCESS
CNTLN	54875	.	GRCh37	9	17167219	17167219	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	10	0	ENST00000380647.3:c.449+23845A>G		p.*150*	ENST00000380647				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43789.1	.	MUTECT|MUSE|VARSCANS	.	CACTTACTTGC	NONE	.	.	.	.	.	ENSP00000370021	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODIFIER	2/25	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,intron_variant,,ENST00000380641,;CNTLN,intron_variant,,ENST00000425824,;CNTLN,intron_variant,,ENST00000262360,;CNTLN,intron_variant,,ENST00000380647,;CNTLN,non_coding_transcript_exon_variant,,ENST00000484374,;	.	10	17	SUCCESS
PTPLAD2	0	.	GRCh37	9	21008034	21008034	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	94	0	ENST00000495827.2:c.602T>C	p.Met201Thr	p.M201T	ENST00000495827	NM_001010915.3	201	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS43791.1	602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCATGAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF16,Pfam_domain:PF04387	.	.	ENSP00000419503	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000495827	Transcript	.	.	ENSG00000188921	20920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0.02)	.	HACD4_HUMAN	PTPLAD2	HGNC	.	.	UPI0000251F91	SNV	PTPLAD2,missense_variant,p.Met201Thr,ENST00000495827,;PTPLAD2,missense_variant,p.Met201Thr,ENST00000513293,;	648	94	94	SUCCESS
TEK	7010	.	GRCh37	9	27203079	27203079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	51	170	0	ENST00000380036.4:c.2171C>A	p.Ala724Asp	p.A724D	ENST00000380036	NM_000459.3	724	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS6519.1	2171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCTTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000369375	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.62)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Ala681Asp,ENST00000406359,;TEK,missense_variant,p.Ala577Asp,ENST00000519097,;TEK,missense_variant,p.Ala724Asp,ENST00000380036,;TEK,downstream_gene_variant,,ENST00000519080,;RNA5SP280,downstream_gene_variant,,ENST00000411230,;	2613	170	122	SUCCESS
TAF1L	138474	.	GRCh37	9	32632432	32632432	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764176652	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	75	195	0	ENST00000242310.4:c.3146G>C	p.Arg1049Pro	p.R1049P	ENST00000242310	NM_153809.2	1049	cGc/cCc	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS35003.1	3146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGCGCACC	NONE	byFrequency	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	rs764176652	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Arg1049Pro,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	3236	195	207	SUCCESS
NOL6	65083	.	GRCh37	9	33469275	33469275	+	synonymous_variant	Silent	SNP	C	C	G	rs370042879	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	43	108	0	ENST00000297990.4:c.792G>C	p.Pro264=	p.P264=	ENST00000297990	NM_022917.4	264	ccG/ccC	0	T:0	.	.	.	.	G	P	protein_coding	YES	CCDS6543.1	792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCACGGGCG	NONE	byFrequency|byCluster	.	Pfam_domain:PF03813,hmmpanther:PTHR17972,Low_complexity_(Seg):seg	.	T:0.0001	ENSP00000297990	.	6/26	.	.	.	.	.	.	.	.	rs370042879	6/26	PASS	ENST00000297990	Transcript	.	.	ENSG00000165271	19910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL6_HUMAN	NOL6	HGNC	.	.	UPI0000050326	SNV	NOL6,synonymous_variant,p.%3D,ENST00000297990,;NOL6,synonymous_variant,p.%3D,ENST00000379471,;NOL6,synonymous_variant,p.%3D,ENST00000353159,;NOL6,synonymous_variant,p.%3D,ENST00000455041,;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,non_coding_transcript_exon_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	880	108	92	SUCCESS
KIF24	347240	.	GRCh37	9	34263160	34263160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	143	0	ENST00000379166.2:c.1454G>T	p.Cys485Phe	p.C485F	ENST00000379166	NM_194313.2	485	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS6551.2	1454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATACATTCC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF331,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000368464	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000379166	Transcript	.	.	ENSG00000186638	19916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	deleterious(0.01)	.	KIF24_HUMAN	KIF24	HGNC	.	.	UPI00004F9D23	SNV	KIF24,missense_variant,p.Cys351Phe,ENST00000345050,;KIF24,missense_variant,p.Cys485Phe,ENST00000379166,;KIF24,missense_variant,p.Cys485Phe,ENST00000402558,;KIF24,missense_variant,p.Cys351Phe,ENST00000379174,;	1574	143	111	SUCCESS
DCAF10	79269	.	GRCh37	9	37861138	37861138	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	44	0	ENST00000377724.3:c.1313G>T	p.Cys438Phe	p.C438F	ENST00000377724	NM_024345.3	438	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS6613.2	1313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGTGTACTT	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR14588	.	.	ENSP00000366953	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377724	Transcript	.	.	ENSG00000122741	23686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	deleterious(0.02)	.	DCA10_HUMAN	DCAF10	HGNC	.	.	UPI000046FD58	SNV	DCAF10,missense_variant,p.Cys438Phe,ENST00000377724,;DCAF10,missense_variant,p.Cys401Phe,ENST00000242323,;DCAF10,splice_region_variant,,ENST00000483167,;DCAF10,splice_region_variant,,ENST00000478453,;DCAF10,downstream_gene_variant,,ENST00000461549,;RP11-613M10.9,intron_variant,,ENST00000540557,;	1678	44	32	SUCCESS
FAM74A3	728495	.	GRCh37	9	40716298	40716298	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	46	234	0	ENST00000604146.1:n.637C>T		p.*213*	ENST00000604146				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	AGCACCTATTT	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000604146	Transcript	.	.	ENSG00000204844	32031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FAM74A3	HGNC	.	.	.	SNV	FAM74A3,non_coding_transcript_exon_variant,,ENST00000355345,;FAM74A3,non_coding_transcript_exon_variant,,ENST00000604146,;RP11-395E19.5,upstream_gene_variant,,ENST00000432614,;RP11-395E19.2,upstream_gene_variant,,ENST00000433824,;	637	234	228	SUCCESS
FOXD4L3	286380	.	GRCh37	9	70917878	70917878	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1554670695	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	191	0	ENST00000342833.2:c.11C>T	p.Pro4Leu	p.P4L	ENST00000342833	NM_199135.4	4	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43833.1	11	RADIA|MUSE|VARSCANS	.	CCTGCCAAGAG	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149	.	.	ENSP00000341961	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342833	Transcript	.	.	ENSG00000187559	18523	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	deleterious_low_confidence(0.03)	.	FX4L3_HUMAN	FOXD4L3	HGNC	Q8WTR0_HUMAN	.	UPI0000367635	SNV	FOXD4L3,missense_variant,p.Pro4Leu,ENST00000342833,;CBWD3,downstream_gene_variant,,ENST00000377342,;CBWD3,downstream_gene_variant,,ENST00000360171,;RP11-561O23.5,upstream_gene_variant,,ENST00000603050,;RP11-561O23.7,upstream_gene_variant,,ENST00000419576,;CBWD3,downstream_gene_variant,,ENST00000377344,;	603	191	144	SUCCESS
PIP5K1B	8395	.	GRCh37	9	71555562	71555562	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	58	135	0	ENST00000265382.3:c.1358C>A	p.Ala453Asp	p.A453D	ENST00000265382	NM_003558.3	453	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS6624.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGCCCTGG	NONE	.	.	.	.	.	ENSP00000265382	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000265382	Transcript	.	.	ENSG00000107242	8995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.33)	.	PI51B_HUMAN	PIP5K1B	HGNC	Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN	.	UPI000002E327	SNV	PIP5K1B,missense_variant,p.Ala453Asp,ENST00000265382,;PIP5K1B,missense_variant,p.Ala453Asp,ENST00000541509,;RNU6-820P,upstream_gene_variant,,ENST00000384273,;PIP5K1B,missense_variant,p.Ala493Asp,ENST00000478500,;	1663	135	135	SUCCESS
TMC1	117531	.	GRCh37	9	75404071	75404071	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	7	119	0	ENST00000297784.5:c.1062A>T	p.Val354=	p.V354=	ENST00000297784	NM_138691.2	354	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6643.1	1062	MUTECT|MUSE	.	CAAGTAGAAGA	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18	.	.	ENSP00000297784	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000297784	Transcript	.	.	ENSG00000165091	16513	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMC1_HUMAN	TMC1	HGNC	.	.	UPI0000161FA9	SNV	TMC1,synonymous_variant,p.%3D,ENST00000297784,;TMC1,synonymous_variant,p.%3D,ENST00000340019,;TMC1,synonymous_variant,p.%3D,ENST00000396237,;TMC1,upstream_gene_variant,,ENST00000486417,;	1602	119	127	SUCCESS
PRUNE2	158471	.	GRCh37	9	79318669	79318669	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	126	1	ENST00000376718.3:c.7860G>A	p.Thr2620=	p.T2620=	ENST00000376718	NM_015225.2	2620	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47982.1	7860	RADIA|MUTECT|MUSE	.	GATCTCGTATC	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	9/19	.	.	.	.	.	.	.	.	COSM3658470	9/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,synonymous_variant,p.%3D,ENST00000426088,;PRUNE2,synonymous_variant,p.%3D,ENST00000376718,;PRUNE2,synonymous_variant,p.%3D,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	7984	127	103	SUCCESS
PRUNE2	158471	.	GRCh37	9	79325463	79325463	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	78	0	ENST00000376718.3:c.1727G>T	p.Ser576Ile	p.S576I	ENST00000376718	NM_015225.2	576	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS47982.1	1727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACTGTCT	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	COSM456093	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.945)	.	deleterious(0)	1	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Ser576Ile,ENST00000376718,;PRUNE2,missense_variant,p.Ser217Ile,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000426088,;	1851	78	70	SUCCESS
FOXB2	442425	.	GRCh37	9	79635447	79635447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	36	0	ENST00000376708.1:c.877T>A	p.Ser293Thr	p.S293T	ENST00000376708	NM_001013735.1	293	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS35045.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGTCCGTC	NONE	.	.	hmmpanther:PTHR11829:SF76,hmmpanther:PTHR11829	.	.	ENSP00000365898	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000376708	Transcript	.	.	ENSG00000204612	23315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious_low_confidence(0.04)	.	FOXB2_HUMAN	FOXB2	HGNC	.	.	UPI00004588EE	SNV	FOXB2,missense_variant,p.Ser293Thr,ENST00000376708,;	877	36	36	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84533247	84533247	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	12	0	ENST00000527857.1:n.3269A>G		p.*1090*	ENST00000527857				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	ATCTTACAGAA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	3269	12	11	SUCCESS
ZCCHC6	0	.	GRCh37	9	88961390	88961390	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774811677	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	111	0	ENST00000375963.3:c.526A>G	p.Lys176Glu	p.K176E	ENST00000375963	NM_001185059.1	176	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS35057.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTGTTTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000365130	.	3/27	.	.	.	.	.	.	.	.	rs774811677	3/27	PASS	ENST00000375963	Transcript	.	.	ENSG00000083223	25817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0.03)	.	TUT7_HUMAN	ZCCHC6	HGNC	.	.	UPI00004588F6	SNV	ZCCHC6,missense_variant,p.Lys176Glu,ENST00000375961,;ZCCHC6,missense_variant,p.Lys9Glu,ENST00000375947,;ZCCHC6,missense_variant,p.Lys176Glu,ENST00000375960,;ZCCHC6,missense_variant,p.Lys176Glu,ENST00000375963,;ZCCHC6,5_prime_UTR_variant,,ENST00000277141,;ZCCHC6,upstream_gene_variant,,ENST00000375948,;	699	111	83	SUCCESS
SYK	6850	.	GRCh37	9	93650165	93650165	+	synonymous_variant	Silent	SNP	A	A	G	rs1330054565	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	36	99	0	ENST00000375746.1:c.1716A>G	p.Pro572=	p.P572=	ENST00000375746	NM_001174167.1	572	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6688.1	1716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCATATCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF79,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000604,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000364907	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000375754	Transcript	.	.	ENSG00000165025	11491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KSYK_HUMAN	SYK	HGNC	.	.	UPI000012E0DD	SNV	SYK,synonymous_variant,p.%3D,ENST00000375754,;SYK,synonymous_variant,p.%3D,ENST00000375747,;SYK,synonymous_variant,p.%3D,ENST00000375751,;SYK,synonymous_variant,p.%3D,ENST00000375746,;	1864	99	90	SUCCESS
ROR2	4920	.	GRCh37	9	94486208	94486208	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	69	0	ENST00000375708.3:c.2568C>A	p.Val856=	p.V856=	ENST00000375708	NM_004560.3	856	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6691.1	2568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGACCAT	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000624,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416	.	.	ENSP00000364860	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375708,;ROR2,intron_variant,,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	2767	69	35	SUCCESS
BICD2	23299	.	GRCh37	9	95477644	95477644	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	79	0	ENST00000375512.3:c.2360A>T	p.Gln787Leu	p.Q787L	ENST00000375512	NM_015250.3	787	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS35064.1	2360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGGATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7,Pfam_domain:PF09730	.	.	ENSP00000349351	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000356884	Transcript	.	.	ENSG00000185963	17208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BICD2_HUMAN	BICD2	HGNC	.	.	UPI00001BBAF1	SNV	BICD2,missense_variant,p.Gln787Leu,ENST00000375512,;BICD2,missense_variant,p.Gln787Leu,ENST00000356884,;	2428	79	78	SUCCESS
COL4A6	1288	.	GRCh37	X	107464587	107464587	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	67	80	0	ENST00000372216.4:c.165T>C	p.Ile55=	p.I55=	ENST00000372216	NM_001847.2	55	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS14541.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAATTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164,Pfam_domain:PF01391	.	.	ENSP00000361290	.	4/45	.	.	.	.	.	.	.	.	.	4/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,synonymous_variant,p.%3D,ENST00000394872,;COL4A6,synonymous_variant,p.%3D,ENST00000372216,;COL4A6,synonymous_variant,p.%3D,ENST00000334504,;COL4A6,synonymous_variant,p.%3D,ENST00000545689,;COL4A6,synonymous_variant,p.%3D,ENST00000538570,;COL4A6,non_coding_transcript_exon_variant,,ENST00000468338,;	266	80	145	SUCCESS
RHOXF2B	727940	.	GRCh37	X	119206700	119206700	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	10	0	ENST00000371402.2:c.648T>A	p.Ala216=	p.A216=	ENST00000371402	NM_001099685.1	216	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43985.1	648	RADIA|VARSCANS	.	GCCTCAGCTGC	NONE	.	.	hmmpanther:PTHR24329:SF261,hmmpanther:PTHR24329	.	.	ENSP00000360455	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000371402	Transcript	.	.	ENSG00000203989	33519	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHF2B_HUMAN	RHOXF2B	HGNC	.	.	UPI000006D753	SNV	RHOXF2B,synonymous_variant,p.%3D,ENST00000371402,;RP4-755D9.1,intron_variant,,ENST00000553843,;	838	10	15	SUCCESS
DCAF12L2	340578	.	GRCh37	X	125298937	125298937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	78	107	0	ENST00000360028.2:c.971G>T	p.Gly324Val	p.G324V	ENST00000360028		324	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS43991.1	971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCCCACA	NONE	.	.	hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000441489	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000538699	Transcript	.	.	ENSG00000198354	32950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DC122_HUMAN	DCAF12L2	HGNC	.	.	UPI0000197594	SNV	DCAF12L2,missense_variant,p.Gly324Val,ENST00000538699,;DCAF12L2,missense_variant,p.Gly324Val,ENST00000360028,;	1052	108	170	SUCCESS
ACTRT1	139741	.	GRCh37	X	127186327	127186327	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	378	20	250	0	ENST00000371124.3:c.-142A>T		p.*48*	ENST00000371124	NM_138289.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14611.1	.	MUTECT|MUSE	.	TAGGCTACCTT	NONE	.	.	.	.	.	ENSP00000360165	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371124	Transcript	.	.	ENSG00000123165	24027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACTT1_HUMAN	ACTRT1	HGNC	.	.	UPI0000072276	SNV	ACTRT1,5_prime_UTR_variant,,ENST00000371124,;	56	250	398	SUCCESS
GPC4	2239	.	GRCh37	X	132458433	132458433	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757840938	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	88	113	0	ENST00000370828.3:c.451G>T	p.Val151Leu	p.V151L	ENST00000370828	NM_001448.2	151	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS14637.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGTAGT	NONE	byFrequency	.	hmmpanther:PTHR10822:SF25,hmmpanther:PTHR10822,Pfam_domain:PF01153	.	.	ENSP00000359864	.	3/9	.	.	.	.	.	.	.	.	rs757840938	3/9	PASS	ENST00000370828	Transcript	.	.	ENSG00000076716	4452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	tolerated(0.68)	.	GPC4_HUMAN	GPC4	HGNC	B4E2C0_HUMAN	.	UPI0000001C14	SNV	GPC4,missense_variant,p.Val151Leu,ENST00000370828,;GPC4,missense_variant,p.Val81Leu,ENST00000535467,;	976	113	192	SUCCESS
PHF6	84295	.	GRCh37	X	133547942	133547942	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	298	283	317	2	ENST00000332070.3:c.675A>G	p.Arg225=	p.R225=	ENST00000332070	NM_032458.2	225	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS14639.1	675	RADIA|SOMATICSNIPER|VARSCANS	.	GCACGAGGAAA	NONE	.	.	hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF5	.	.	ENSP00000329097	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000332070	Transcript	.	.	ENSG00000156531	18145	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHF6_HUMAN	PHF6	HGNC	B4E138_HUMAN	.	UPI0000074487	SNV	PHF6,synonymous_variant,p.%3D,ENST00000394292,;PHF6,synonymous_variant,p.%3D,ENST00000370799,;PHF6,synonymous_variant,p.%3D,ENST00000332070,;PHF6,synonymous_variant,p.%3D,ENST00000416404,;PHF6,synonymous_variant,p.%3D,ENST00000370800,;PHF6,synonymous_variant,p.%3D,ENST00000370803,;	877	319	581	SUCCESS
GPR112	0	.	GRCh37	X	135488040	135488040	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs753140750	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	69	0	ENST00000370652.1:c.8844A>T	p.Leu2948Phe	p.L2948F	ENST00000370652		2948	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS35409.1	8844	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTACTTGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000377699	.	23/26	.	.	.	.	.	.	.	.	rs753140750	23/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Leu2701Phe,ENST00000287534,;GPR112,missense_variant,p.Leu2948Phe,ENST00000370652,;GPR112,missense_variant,p.Leu2948Phe,ENST00000394143,;GPR112,missense_variant,p.Leu2743Phe,ENST00000394141,;GPR112,missense_variant,p.Leu2743Phe,ENST00000412101,;	9135	69	146	SUCCESS
MCF2	4168	.	GRCh37	X	138701843	138701843	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	410	321	390	1	ENST00000370576.4:c.710T>A	p.Leu237Gln	p.L237Q	ENST00000370576	NM_005369.4	237	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS55517.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATAGAAAT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF109	.	.	ENSP00000430276	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000519895	Transcript	.	.	ENSG00000101977	6940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.655)	.	deleterious(0)	.	MCF2_HUMAN	MCF2	HGNC	.	.	UPI0001C33995	SNV	MCF2,missense_variant,p.Leu237Gln,ENST00000370573,;MCF2,missense_variant,p.Leu237Gln,ENST00000338585,;MCF2,missense_variant,p.Leu198Gln,ENST00000536274,;MCF2,missense_variant,p.Leu297Gln,ENST00000520602,;MCF2,missense_variant,p.Leu297Gln,ENST00000414978,;MCF2,missense_variant,p.Leu237Gln,ENST00000370576,;MCF2,missense_variant,p.Leu297Gln,ENST00000519895,;MCF2,missense_variant,p.Leu382Gln,ENST00000370578,;MCF2,upstream_gene_variant,,ENST00000446225,;MCF2,upstream_gene_variant,,ENST00000483690,;	1056	391	732	SUCCESS
MAGEC3	139081	.	GRCh37	X	140969387	140969387	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	57	85	0	ENST00000298296.1:c.714C>T	p.Gly238=	p.G238=	ENST00000298296	NM_138702.1	238	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14676.1	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCATTTC	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47,Pfam_domain:PF01454	.	.	ENSP00000298296	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,synonymous_variant,p.%3D,ENST00000298296,;MAGEC3,intron_variant,,ENST00000448920,;MAGEC3,intron_variant,,ENST00000443323,;MAGEC3,intron_variant,,ENST00000536088,;	714	85	135	SUCCESS
AFF2	2334	.	GRCh37	X	147743516	147743516	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	169	239	0	ENST00000370460.2:c.268A>G	p.Asn90Asp	p.N90D	ENST00000370460	NM_002025.3	90	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS14684.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTAATCAG	NONE	.	.	hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Asn90Asp,ENST00000370460,;AFF2,missense_variant,p.Asn86Asp,ENST00000342251,;AFF2,missense_variant,p.Asn86Asp,ENST00000370457,;AFF2,missense_variant,p.Asn86Asp,ENST00000370458,;	747	239	377	SUCCESS
EMD	2010	.	GRCh37	X	153607910	153607910	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	70	0	ENST00000369842.4:c.66G>T	p.Pro22=	p.P22=	ENST00000369842	NM_000117.2	22	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14745.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGCACGG	NONE	.	.	PROSITE_profiles:PS50954,hmmpanther:PTHR15171,Pfam_domain:PF03020,Gene3D:1.10.720.40,SMART_domains:SM00540,Superfamily_domains:SSF63451	.	.	ENSP00000358857	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000369842	Transcript	.	.	ENSG00000102119	3331	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMD_HUMAN	EMD	HGNC	.	.	UPI0000129EA0	SNV	EMD,synonymous_variant,p.%3D,ENST00000369842,;EMD,synonymous_variant,p.%3D,ENST00000369835,;FLNA,upstream_gene_variant,,ENST00000422373,;FLNA,upstream_gene_variant,,ENST00000369850,;EMD,upstream_gene_variant,,ENST00000492448,;EMD,non_coding_transcript_exon_variant,,ENST00000485261,;EMD,non_coding_transcript_exon_variant,,ENST00000486738,;EMD,non_coding_transcript_exon_variant,,ENST00000494443,;EMD,non_coding_transcript_exon_variant,,ENST00000468294,;EMD,intron_variant,,ENST00000428228,;EMD,upstream_gene_variant,,ENST00000471965,;	354	70	91	SUCCESS
DNASE1L1	1774	.	GRCh37	X	153633398	153633398	+	synonymous_variant	Silent	SNP	C	C	T	rs150301252	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	103	116	1	ENST00000014935.3:c.162G>A	p.Val54=	p.V54=	ENST00000014935		54	gtG/gtA	0	T:0.0005	.	.	.	.	T	V	protein_coding	YES	CCDS14747.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCACCAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11371:SF22,hmmpanther:PTHR11371,Pfam_domain:PF03372,Gene3D:3.60.10.10,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219,Prints_domain:PR00130	.	T:0	ENSP00000358824	.	5/10	.	.	.	.	.	.	.	.	rs150301252	5/10	PASS	ENST00000369809	Transcript	.	.	ENSG00000013563	2957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNSL1_HUMAN	DNASE1L1	HGNC	Q5HY40_HUMAN,A6QRJ0_HUMAN,A3KQT1_HUMAN	.	UPI0000129891	SNV	DNASE1L1,synonymous_variant,p.%3D,ENST00000369808,;DNASE1L1,synonymous_variant,p.%3D,ENST00000309585,;DNASE1L1,synonymous_variant,p.%3D,ENST00000369809,;DNASE1L1,synonymous_variant,p.%3D,ENST00000451865,;DNASE1L1,synonymous_variant,p.%3D,ENST00000424626,;DNASE1L1,synonymous_variant,p.%3D,ENST00000014935,;DNASE1L1,synonymous_variant,p.%3D,ENST00000369807,;DNASE1L1,synonymous_variant,p.%3D,ENST00000393638,;DNASE1L1,intron_variant,,ENST00000447892,;RPL10,intron_variant,,ENST00000428169,;DNASE1L1,intron_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000344746,;RPL10,downstream_gene_variant,,ENST00000406022,;RPL10,downstream_gene_variant,,ENST00000449494,;RPL10,downstream_gene_variant,,ENST00000436473,;RPL10,downstream_gene_variant,,ENST00000427682,;RPL10,downstream_gene_variant,,ENST00000369817,;RPL10,downstream_gene_variant,,ENST00000458500,;RPL10,downstream_gene_variant,,ENST00000451365,;RPL10,downstream_gene_variant,,ENST00000424325,;SNORA70,downstream_gene_variant,,ENST00000384436,;DNASE1L1,upstream_gene_variant,,ENST00000497242,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000474786,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000492572,;	792	117	200	SUCCESS
CTAG2	30848	.	GRCh37	X	153880820	153880820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	80	120	0	ENST00000247306.4:c.355C>A	p.Pro119Thr	p.P119T	ENST00000247306	NM_020994.3	119	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14759.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGTCGGG	BUFFER|p.P115P|c.345T>G|3,BUFFER|p.P115P|c.345T>G|3,BUFFER|p.P115P|c.345T>G|3	.	.	hmmpanther:PTHR31283,hmmpanther:PTHR31283:SF4,Pfam_domain:PF09341	.	.	ENSP00000247306	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000247306	Transcript	.	.	ENSG00000126890	2492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious_low_confidence(0.03)	.	CTAG2_HUMAN	CTAG2	HGNC	.	.	UPI000003337A	SNV	CTAG2,missense_variant,p.Pro119Thr,ENST00000369585,;CTAG2,missense_variant,p.Pro119Thr,ENST00000247306,;IKBKGP1,upstream_gene_variant,,ENST00000453062,;AF277315.13,upstream_gene_variant,,ENST00000442033,;	419	120	164	SUCCESS
VBP1	7411	.	GRCh37	X	154444801	154444801	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	64	64	0	ENST00000286428.5:c.42C>G	p.Ala14=	p.A14=	ENST00000286428	NM_003372.5	14	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS14765.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCACAGG	NONE	.	.	hmmpanther:PTHR12409,PIRSF_domain:PIRSF016396	.	.	ENSP00000286428	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000286428	Transcript	.	.	ENSG00000155959	12662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PFD3_HUMAN	VBP1	HGNC	.	.	UPI00001AEAE3	SNV	VBP1,synonymous_variant,p.%3D,ENST00000286428,;VBP1,intron_variant,,ENST00000535916,;RP13-228J13.9,upstream_gene_variant,,ENST00000415016,;	159	64	118	SUCCESS
PTCHD1	139411	.	GRCh37	X	23397834	23397834	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	182	329	0	ENST00000379361.4:c.478C>T	p.Leu160=	p.L160=	ENST00000379361	NM_173495.2	160	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35215.2	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGCTAAAG	NONE	.	.	Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36	.	.	ENSP00000368666	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000379361	Transcript	.	.	ENSG00000165186	26392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHD1_HUMAN	PTCHD1	HGNC	.	.	UPI000059DAD8	SNV	PTCHD1,synonymous_variant,p.%3D,ENST00000379361,;PTCHD1,intron_variant,,ENST00000456522,;	1338	329	217	SUCCESS
FTHL17	53940	.	GRCh37	X	31089830	31089830	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	105	140	2	ENST00000359202.3:c.241A>T	p.Ile81Phe	p.I81F	ENST00000359202	NM_031894.2	81	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS14227.1	241	RADIA|SOMATICSNIPER|VARSCANS	.	GCAGATGTGGC	NONE	.	.	PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF33,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240	.	.	ENSP00000368207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359202	Transcript	.	.	ENSG00000132446	3987	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.091)	.	deleterious(0.02)	.	FHL17_HUMAN	FTHL17	HGNC	.	.	UPI00000421FF	SNV	FTHL17,missense_variant,p.Ile81Phe,ENST00000359202,;	341	142	123	SUCCESS
FAM47A	158724	.	GRCh37	X	34149063	34149063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	112	157	1	ENST00000346193.3:c.1333T>A	p.Cys445Ser	p.C445S	ENST00000346193	NM_203408.3	445	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS43926.1	1333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAACGAT	NONE	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0.04)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Cys445Ser,ENST00000346193,;	1385	158	126	SUCCESS
PPP1R3F	89801	.	GRCh37	X	49143177	49143177	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	90	125	0	ENST00000055335.6:c.2025A>G	p.Ile675Met	p.I675M	ENST00000055335	NM_033215.4	675	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS35254.1	2025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATAGAGGT	NONE	.	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF5	.	.	ENSP00000055335	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000055335	Transcript	.	.	ENSG00000049769	14944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	PPR3F_HUMAN	PPP1R3F	HGNC	Q0D2I0_HUMAN	.	UPI00001D7BA8	SNV	PPP1R3F,missense_variant,p.Ile346Met,ENST00000438316,;PPP1R3F,missense_variant,p.Ile675Met,ENST00000055335,;PPP1R3F,missense_variant,p.Ile329Met,ENST00000466508,;PPP1R3F,missense_variant,p.Ile329Met,ENST00000376188,;PPP1R3F,missense_variant,p.Ile329Met,ENST00000495799,;PPP1R3F,intron_variant,,ENST00000471261,;	2041	125	103	SUCCESS
DGKK	139189	.	GRCh37	X	50125538	50125538	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	63	86	0	ENST00000376025.2:n.2673T>C		p.*891*	ENST00000376025				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	TCCAGAGAAAT	NONE	.	.	.	.	.	.	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000376025	Transcript	.	.	ENSG00000204466	32395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DGKK	HGNC	.	.	.	SNV	DGKK,non_coding_transcript_exon_variant,,ENST00000376025,;DGKK,non_coding_transcript_exon_variant,,ENST00000546288,;	2673	87	70	SUCCESS
APEX2	27301	.	GRCh37	X	55033578	55033578	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	57	112	0	ENST00000374987.3:c.1267A>T	p.Thr423Ser	p.T423S	ENST00000374987	NM_014481.3	423	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS14365.1	1267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGACCCCG	NONE	.	.	hmmpanther:PTHR22748:SF4,hmmpanther:PTHR22748	.	.	ENSP00000364126	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000374987	Transcript	.	.	ENSG00000169188	17889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.21)	.	APEX2_HUMAN	APEX2	HGNC	E5KN95_HUMAN,B7ZA71_HUMAN	.	UPI0000071F5B	SNV	APEX2,missense_variant,p.Thr423Ser,ENST00000374987,;ALAS2,downstream_gene_variant,,ENST00000396198,;ALAS2,downstream_gene_variant,,ENST00000335854,;ALAS2,downstream_gene_variant,,ENST00000330807,;APEX2,downstream_gene_variant,,ENST00000471758,;ALAS2,downstream_gene_variant,,ENST00000498636,;	1333	112	79	SUCCESS
NLGN4X	57502	.	GRCh37	X	6069058	6069058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	40	69	0	ENST00000275857.6:c.450C>A	p.Asn150Lys	p.N150K	ENST00000275857	NM_020742.2	150	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS14126.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATGTTTAA	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,PROSITE_patterns:PS00941,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Asn150Lys,ENST00000381092,;NLGN4X,missense_variant,p.Asn150Lys,ENST00000381095,;NLGN4X,missense_variant,p.Asn150Lys,ENST00000381093,;NLGN4X,missense_variant,p.Asn150Lys,ENST00000538097,;NLGN4X,missense_variant,p.Asn150Lys,ENST00000275857,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,downstream_gene_variant,,ENST00000483337,;	1078	69	48	SUCCESS
FAM155B	27112	.	GRCh37	X	68725120	68725120	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs775389837	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	41	1	ENST00000252338.4:c.-6T>C		p.*2*	ENST00000252338	NM_015686.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35317.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTGAAAT	NONE	byFrequency	.	.	.	.	ENSP00000252338	.	1/3	.	.	.	.	.	.	.	.	rs775389837	1/3	PASS	ENST00000252338	Transcript	.	.	ENSG00000130054	30701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F155B_HUMAN	FAM155B	HGNC	.	.	UPI0000070EAA	SNV	FAM155B,5_prime_UTR_variant,,ENST00000252338,;AL158069.1,downstream_gene_variant,,ENST00000579664,;	37	42	59	SUCCESS
OTUD6A	139562	.	GRCh37	X	69282892	69282892	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	78	94	2	ENST00000338352.2:c.518G>T	p.Arg173Leu	p.R173L	ENST00000338352	NM_207320.1	173	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS14395.1	518	RADIA|SOMATICSNIPER|VARSCANS	.	CTGCCGCACCG	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF02338,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF13,PROSITE_profiles:PS50802	.	.	ENSP00000339389	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338352	Transcript	.	.	ENSG00000189401	32312	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.708)	.	tolerated(0.07)	.	OTU6A_HUMAN	OTUD6A	HGNC	.	.	UPI00000712B7	SNV	OTUD6A,missense_variant,p.Arg173Leu,ENST00000338352,;	552	96	166	SUCCESS
KIF4A	24137	.	GRCh37	X	69572476	69572476	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	69	94	0	ENST00000374403.3:c.1458A>G	p.Ala486=	p.A486=	ENST00000374403	NM_012310.4	486	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS14401.1	1458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGCCAT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF393	.	.	ENSP00000363524	.	14/31	.	.	.	.	.	.	.	.	.	14/31	PASS	ENST00000374403	Transcript	.	.	ENSG00000090889	13339	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF4A_HUMAN	KIF4A	HGNC	.	.	UPI000013D32A	SNV	KIF4A,synonymous_variant,p.%3D,ENST00000374403,;KIF4A,synonymous_variant,p.%3D,ENST00000374388,;	1540	94	137	SUCCESS
TEX11	56159	.	GRCh37	X	69772028	69772028	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	200	292	1	ENST00000344304.3:c.2513T>A	p.Leu838Gln	p.L838Q	ENST00000344304		838	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS35323.1	2513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGGGGA	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904	.	.	ENSP00000379226	.	29/31	.	.	.	.	.	.	.	.	.	29/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.05)	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,missense_variant,p.Leu513Gln,ENST00000374320,;TEX11,missense_variant,p.Leu823Gln,ENST00000374333,;TEX11,missense_variant,p.Leu838Gln,ENST00000395889,;TEX11,missense_variant,p.Leu838Gln,ENST00000344304,;	2669	293	437	SUCCESS
HDAC8	55869	.	GRCh37	X	71694493	71694493	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	117	152	2	ENST00000373573.3:c.738-9912A>G		p.*246*	ENST00000373573	NM_018486.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14420.1	.	RADIA|VARSCANS	.	CAGTCTAGTTT	NONE	.	.	.	.	.	ENSP00000362674	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373573	Transcript	.	.	ENSG00000147099	13315	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HDAC8_HUMAN	HDAC8	HGNC	C9J8F0_HUMAN,B4DQE7_HUMAN	.	UPI00000411E6	SNV	HDAC8,3_prime_UTR_variant,,ENST00000373559,;HDAC8,3_prime_UTR_variant,,ENST00000439122,;HDAC8,3_prime_UTR_variant,,ENST00000373560,;HDAC8,intron_variant,,ENST00000373583,;HDAC8,intron_variant,,ENST00000373571,;HDAC8,intron_variant,,ENST00000373568,;HDAC8,intron_variant,,ENST00000415409,;HDAC8,intron_variant,,ENST00000373573,;HDAC8,intron_variant,,ENST00000373589,;HDAC8,intron_variant,,ENST00000429103,;HDAC8,downstream_gene_variant,,ENST00000373561,;HDAC8,intron_variant,,ENST00000412342,;HDAC8,intron_variant,,ENST00000436675,;	.	155	233	SUCCESS
MAGEE2	139599	.	GRCh37	X	75004449	75004449	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	69	1	ENST00000373359.2:c.438T>C	p.Val146=	p.V146=	ENST00000373359	NM_138703.4	146	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS14431.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATAACTCT	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,synonymous_variant,p.%3D,ENST00000373359,;	631	70	103	SUCCESS
P2RY10	27334	.	GRCh37	X	78216943	78216943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	79	112	0	ENST00000171757.2:c.926C>A	p.Ala309Asp	p.A309D	ENST00000171757	NM_014499.2	309	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS14442.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGCTTCAG	NONE	.	.	hmmpanther:PTHR24232:SF6,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000171757	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000171757	Transcript	.	.	ENSG00000078589	19906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	deleterious(0)	.	P2Y10_HUMAN	P2RY10	HGNC	.	.	UPI0000050471	SNV	P2RY10,missense_variant,p.Ala309Asp,ENST00000544091,;P2RY10,missense_variant,p.Ala309Asp,ENST00000171757,;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	1206	112	174	SUCCESS
POU3F4	5456	.	GRCh37	X	82764127	82764127	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	140	203	1	ENST00000373200.2:c.795C>A	p.Ser265Arg	p.S265R	ENST00000373200	NM_000307.4	265	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS14450.1	795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCCCGAC	NONE	.	.	hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF66,Gene3D:1.10.10.60,PIRSF_domain:PIRSF002629,Superfamily_domains:SSF46689	.	.	ENSP00000362296	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373200	Transcript	.	.	ENSG00000196767	9217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0)	.	PO3F4_HUMAN	POU3F4	HGNC	.	.	UPI000045785D	SNV	POU3F4,missense_variant,p.Ser265Arg,ENST00000373200,;RP3-326L13.3,upstream_gene_variant,,ENST00000607789,;RP3-326L13.2,non_coding_transcript_exon_variant,,ENST00000607095,;	859	204	339	SUCCESS
DACH2	117154	.	GRCh37	X	85906101	85906101	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs780882514	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	130	166	1	ENST00000373125.4:c.703A>T	p.Asn235Tyr	p.N235Y	ENST00000373125	NM_053281.3	235	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS14455.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGAACACT	NONE	byFrequency	.	hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7	.	.	ENSP00000362217	.	4/12	.	.	.	.	.	.	.	.	rs780882514	4/12	PASS	ENST00000373125	Transcript	.	.	ENSG00000126733	16814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DACH2_HUMAN	DACH2	HGNC	.	.	UPI00000717B4	SNV	DACH2,missense_variant,p.Asn16Tyr,ENST00000510272,;DACH2,missense_variant,p.Asn235Tyr,ENST00000373125,;DACH2,missense_variant,p.Asn222Tyr,ENST00000373131,;DACH2,missense_variant,p.Asn68Tyr,ENST00000508860,;DACH2,missense_variant,p.Asn235Tyr,ENST00000461604,;DACH2,3_prime_UTR_variant,,ENST00000506327,;	703	167	272	SUCCESS
PCDH11X	27328	.	GRCh37	X	91131828	91131828	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	242	198	268	1	ENST00000373094.1:c.589A>T	p.Lys197Ter	p.K197*	ENST00000373094	NM_032968.3	197	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS14461.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACAAGATG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,stop_gained,p.Lys197Ter,ENST00000373088,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000361724,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000395337,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000298274,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000504220,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000406881,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000373094,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000373097,;PCDH11X,stop_gained,p.Lys197Ter,ENST00000361655,;	1434	269	440	SUCCESS
PCDH11X	27328	.	GRCh37	X	91873264	91873264	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	110	109	0	ENST00000373094.1:c.3369T>A		p.X1123_splice	ENST00000373094	NM_032968.3	1123	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14461.1	3369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGCAGA	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000362186	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,synonymous_variant,p.%3D,ENST00000406881,;PCDH11X,synonymous_variant,p.%3D,ENST00000373097,;PCDH11X,synonymous_variant,p.%3D,ENST00000373094,;PCDH11X,synonymous_variant,p.%3D,ENST00000373088,;PCDH11X,synonymous_variant,p.%3D,ENST00000361655,;PCDH11X,synonymous_variant,p.%3D,ENST00000298274,;PCDH11X,splice_region_variant,,ENST00000504220,;	4214	109	232	SUCCESS
SHROOM2	357	.	GRCh37	X	9863366	9863366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	51	1	ENST00000380913.3:c.1418G>A	p.Gly473Asp	p.G473D	ENST00000380913	NM_001649.2	473	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS14135.1	1418	MUTECT|MUSE	.	GAGCGGCTGGC	NONE	.	.	hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8	.	.	ENSP00000370299	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000380913	Transcript	.	.	ENSG00000146950	630	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.032)	.	tolerated(0.22)	.	SHRM2_HUMAN	SHROOM2	HGNC	F5H3B6_HUMAN,C9IZC6_HUMAN	.	UPI0000125D05	SNV	SHROOM2,missense_variant,p.Gly473Asp,ENST00000380913,;SHROOM2,upstream_gene_variant,,ENST00000493668,;	1508	53	56	SUCCESS
NEURL1	9148	.	GRCh37	10	105350084	105350084	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	70	0	ENST00000369780.4:c.1680C>A	p.Cys560Ter	p.C560*	ENST00000369780	NM_004210.4	560	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS7551.1	1680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCCGCCG	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF4,Gene3D:3.30.40.10,Pfam_domain:PF13920,Superfamily_domains:SSF57850	.	.	ENSP00000358795	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369780	Transcript	.	.	ENSG00000107954	7761	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEU1A_HUMAN	NEURL1	HGNC	B4DS86_HUMAN	.	UPI0000073F46	SNV	NEURL1,stop_gained,p.Cys543Ter,ENST00000369777,;NEURL1,stop_gained,p.Cys560Ter,ENST00000369780,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,downstream_gene_variant,,ENST00000369774,;SH3PXD2A,downstream_gene_variant,,ENST00000355946,;	2089	70	57	SUCCESS
SORCS1	114815	.	GRCh37	10	108431023	108431023	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	120	0	ENST00000263054.6:c.2161T>C	p.Cys721Arg	p.C721R	ENST00000263054	NM_001206570.1	721	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS31283.1	2161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACAGGGTT	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106,SMART_domains:SM00602	.	.	ENSP00000345964	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Cys721Arg,ENST00000263054,;SORCS1,missense_variant,p.Cys256Arg,ENST00000369698,;SORCS1,missense_variant,p.Cys721Arg,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000472196,;	2161	120	76	SUCCESS
CTBP2	1488	.	GRCh37	10	126715003	126715003	+	intron_variant	Intron	SNP	G	G	A	rs1200109239	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	104	0	ENST00000337195.5:c.58+12563C>T		p.*20*	ENST00000337195	NM_001329.2	442		0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7644.1	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGGGAGA	NONE	.	.	.	.	.	ENSP00000311825	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000309035	Transcript	.	.	ENSG00000175029	2495	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTBP2_HUMAN	CTBP2	HGNC	.	.	UPI000013EE11	SNV	CTBP2,synonymous_variant,p.%3D,ENST00000309035,;CTBP2,intron_variant,,ENST00000494626,;CTBP2,intron_variant,,ENST00000531469,;CTBP2,intron_variant,,ENST00000411419,;CTBP2,intron_variant,,ENST00000337195,;CTBP2,intron_variant,,ENST00000460976,;CTBP2,intron_variant,,ENST00000493552,;	1457	104	90	SUCCESS
C10orf113	0	.	GRCh37	10	21414907	21414907	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	103	1	ENST00000534331.1:c.313G>A	p.Ala105Thr	p.A105T	ENST00000534331	NM_001010896.2	105	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31162.2	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCTGGA	NONE	.	.	.	.	.	ENSP00000433646	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000534331	Transcript	.	.	ENSG00000204683	31447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0)	.	CJ113_HUMAN	C10orf113	HGNC	.	.	UPI00001D8111	SNV	C10orf113,missense_variant,p.Ala95Thr,ENST00000377118,;C10orf113,missense_variant,p.Ala105Thr,ENST00000534331,;C10orf113,3_prime_UTR_variant,,ENST00000529198,;NEBL,intron_variant,,ENST00000417816,;	364	104	88	SUCCESS
FRMPD2	143162	.	GRCh37	10	49450281	49450281	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	164	0	ENST00000374201.3:c.490G>A	p.Glu164Lys	p.E164K	ENST00000374201	NM_001018071.3	164	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31195.1	490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCTTTCT	NONE	.	.	PROSITE_profiles:PS51377,SMART_domains:SM00750	.	.	ENSP00000363317	.	5/29	.	.	.	.	.	.	.	.	COSM216265	5/29	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.507)	.	deleterious(0.03)	1	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,missense_variant,p.Glu164Lys,ENST00000374201,;FRMPD2,missense_variant,p.Glu133Lys,ENST00000407470,;FRMPD2,missense_variant,p.Glu140Lys,ENST00000305531,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000468556,;	793	164	105	SUCCESS
FAM208B	0	.	GRCh37	10	5803296	5803296	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	51	0	ENST00000328090.5:c.7036T>C	p.Phe2346Leu	p.F2346L	ENST00000328090	NM_017782.4	2346	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS41485.1	7036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCATTTCAG	NONE	.	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.28)	.	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,missense_variant,p.Phe2346Leu,ENST00000328090,;GDI2,downstream_gene_variant,,ENST00000380132,;GDI2,downstream_gene_variant,,ENST00000380191,;GDI2,downstream_gene_variant,,ENST00000380181,;GDI2,downstream_gene_variant,,ENST00000447751,;GDI2,downstream_gene_variant,,ENST00000479928,;FAM208B,non_coding_transcript_exon_variant,,ENST00000459693,;FAM208B,non_coding_transcript_exon_variant,,ENST00000487196,;	7661	51	33	SUCCESS
TET1	80312	.	GRCh37	10	70405127	70405127	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764721765	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	66	0	ENST00000373644.4:c.2641A>G	p.Met881Val	p.M881V	ENST00000373644	NM_030625.2	881	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS7281.1	2641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTAATGAAA	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2	.	.	ENSP00000362748	.	4/12	.	.	.	.	.	.	.	.	rs764721765	4/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.17)	.	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Met881Val,ENST00000373644,;	2850	66	60	SUCCESS
CHST3	9469	.	GRCh37	10	73767615	73767615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	18	0	ENST00000373115.4:c.826C>A	p.Arg276Ser	p.R276S	ENST00000373115	NM_004273.4	276	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS7312.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGCGCATC	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF005883,Pfam_domain:PF00685,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,missense_variant,p.Arg276Ser,ENST00000373115,;	1263	18	24	SUCCESS
ITIH5	80760	.	GRCh37	10	7679202	7679202	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374950629	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	45	1	ENST00000256861.6:c.641G>T	p.Gly214Val	p.G214V	ENST00000256861	NM_030569.6	214	gGg/gTg	0	G:0.0002	.	.	.	.	A	G/V	protein_coding	YES	.	641	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCGCCCACTG	NONE	byCluster	.	hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338	.	G:0	ENSP00000256861	.	5/14	.	.	.	.	.	.	.	.	rs374950629,COSM1506155,COSM1506156	5/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.044)	.	tolerated(0.18)	0,1,1	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Gly214Val,ENST00000397146,;ITIH5,missense_variant,p.Gly214Val,ENST00000397145,;ITIH5,missense_variant,p.Gly214Val,ENST00000256861,;ITIH5,5_prime_UTR_variant,,ENST00000446830,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;	720	46	33	SUCCESS
NUTM2D	728130	.	GRCh37	10	89126079	89126079	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs566330157	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	483	131	680	1	ENST00000381697.2:c.1819C>T	p.Arg607Trp	p.R607W	ENST00000381697		607	Cgg/Tgg	0	.	T:0.0068	.	T:0	.	T	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTGCCCGGGAC	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000396080	T:0	.	.	.	.	.	.	.	.	.	rs566330157	.	PASS	ENST00000412718	Transcript	.	T:0.0018	ENSG00000214562	23447	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	NTM2D_HUMAN	NUTM2D	HGNC	.	.	UPI0000458AED	SNV	NUTM2D,missense_variant,p.Arg607Trp,ENST00000381697,;NUTM2D,3_prime_UTR_variant,,ENST00000465545,;NUTM2D,intron_variant,,ENST00000412718,;	.	681	614	SUCCESS
SLC16A12	387700	.	GRCh37	10	91196032	91196032	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	115	0	ENST00000341233.4:c.983G>T	p.Gly328Val	p.G328V	ENST00000341233	NM_213606.3	328	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7404.2	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCCCACG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF28,PROSITE_profiles:PS50850	.	.	ENSP00000360855	.	7/8	.	.	.	.	.	.	.	.	COSM3441399,COSM3441398	7/8	PASS	ENST00000371790	Transcript	1	.	ENSG00000152779	23094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.864)	.	tolerated(0.11)	1,1	.	SLC16A12	HGNC	E9PSF9_HUMAN,E9PPP4_HUMAN	.	UPI0000049FA0	SNV	SLC16A12,missense_variant,p.Gly328Val,ENST00000341233,;SLC16A12,missense_variant,p.Gly358Val,ENST00000371790,;	1374	115	74	SUCCESS
WTAPP1	100288077	.	GRCh37	11	102702828	102702828	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	23	0	ENST00000525739.2:n.1391G>C		p.*464*	ENST00000525739				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8323.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTGGTAGG	NONE	.	3704	.	.	.	ENSP00000299855	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000299855	Transcript	.	.	ENSG00000149968	7173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP3_HUMAN	MMP3	HGNC	.	.	UPI00000422BF	SNV	MMP3,downstream_gene_variant,,ENST00000434103,;MMP3,downstream_gene_variant,,ENST00000299855,;WTAPP1,non_coding_transcript_exon_variant,,ENST00000525739,;WTAPP1,downstream_gene_variant,,ENST00000371455,;WTAPP1,downstream_gene_variant,,ENST00000544704,;WTAPP1,non_coding_transcript_exon_variant,,ENST00000537774,;	.	23	27	SUCCESS
ATF4P4	100127952	.	GRCh37	11	113660211	113660211	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	23	0	ENST00000393544.2:n.259G>A		p.*87*	ENST00000393544				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGGGGCC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000393544	Transcript	.	.	ENSG00000256167	787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ATF4P4	HGNC	.	.	.	SNV	ATF4P4,non_coding_transcript_exon_variant,,ENST00000393544,;RP11-667M19.5,non_coding_transcript_exon_variant,,ENST00000544730,;ATF4P4,upstream_gene_variant,,ENST00000438498,;LRRC37A13P,upstream_gene_variant,,ENST00000546055,;	259	23	28	SUCCESS
TECTA	7007	.	GRCh37	11	120996428	120996428	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370652301	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	78	0	ENST00000264037.2:c.1621G>A	p.Val541Met	p.V541M	ENST00000264037	NM_005422.2	541	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS8434.1	1621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGTGGAC	NONE	byFrequency|byCluster	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339	.	A:0.0001	ENSP00000376543	.	8/24	.	.	.	.	.	.	.	.	rs370652301,COSM1746100	8/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.183)	.	deleterious(0.02)	0,1	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Val541Met,ENST00000264037,;TECTA,missense_variant,p.Val541Met,ENST00000392793,;	1892	78	69	SUCCESS
OR4D5	219875	.	GRCh37	11	123811018	123811018	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	34	134	0	ENST00000307033.2:c.695G>T	p.Gly232Val	p.G232V	ENST00000307033	NM_001001965.1	232	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31699.1	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGCCGCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000305970	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307033	Transcript	.	.	ENSG00000171014	14852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.475)	.	deleterious(0)	.	OR4D5_HUMAN	OR4D5	HGNC	.	.	UPI000003F227	SNV	OR4D5,missense_variant,p.Gly232Val,ENST00000307033,;OR6T1,downstream_gene_variant,,ENST00000321252,;	769	134	134	SUCCESS
IGSF22	283284	.	GRCh37	11	18743087	18743087	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	29	78	0	ENST00000319338.6:c.373C>T	p.Leu125=	p.L125=	ENST00000319338		125	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS41625.2	373	RADIA|MUTECT|MUSE	.	CTTCAGCACGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF53,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000421191	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000513874	Transcript	.	.	ENSG00000179057	26750	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGS22_HUMAN	IGSF22	HGNC	.	.	UPI0001D3B05B	SNV	IGSF22,synonymous_variant,p.%3D,ENST00000513874,;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,downstream_gene_variant,,ENST00000412229,;IGSF22,synonymous_variant,p.%3D,ENST00000319338,;IGSF22,non_coding_transcript_exon_variant,,ENST00000504981,;	513	78	98	SUCCESS
FSHB	2488	.	GRCh37	11	30255242	30255242	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	29	107	0	ENST00000254122.3:c.285A>T	p.Pro95=	p.P95=	ENST00000254122	NM_000510.2	95	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7868.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCAGTGGC	NONE	.	.	hmmpanther:PTHR11515:SF6,hmmpanther:PTHR11515,PROSITE_patterns:PS00689,Pfam_domain:PF00007,Gene3D:2.10.90.10,SMART_domains:SM00068,Superfamily_domains:SSF57501	.	.	ENSP00000416606	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000417547	Transcript	.	.	ENSG00000131808	3964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSHB_HUMAN	FSHB	HGNC	Q27RP3_HUMAN,Q1W658_HUMAN	.	UPI000003FF95	SNV	FSHB,synonymous_variant,p.%3D,ENST00000533718,;FSHB,synonymous_variant,p.%3D,ENST00000417547,;FSHB,synonymous_variant,p.%3D,ENST00000254122,;	324	107	141	SUCCESS
PACSIN3	29763	.	GRCh37	11	47201773	47201773	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	21	0	ENST00000298838.6:c.567G>T	p.Gln189His	p.Q189H	ENST00000298838	NM_016223.4	189	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS31481.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCCTGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10959:SF1,hmmpanther:PTHR10959,Superfamily_domains:SSF103657	.	.	ENSP00000440945	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000539589	Transcript	.	.	ENSG00000165912	8572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.14)	.	PACN3_HUMAN	PACSIN3	HGNC	E9PQ12_HUMAN,E9PNM9_HUMAN,E9PJ75_HUMAN,E9PJ33_HUMAN,E9PIZ6_HUMAN	.	UPI0000034CB1	SNV	PACSIN3,missense_variant,p.Gln189His,ENST00000298838,;PACSIN3,missense_variant,p.Gln189His,ENST00000539589,;PACSIN3,missense_variant,p.Gln189His,ENST00000528462,;PACSIN3,5_prime_UTR_variant,,ENST00000530513,;PACSIN3,5_prime_UTR_variant,,ENST00000528201,;ARFGAP2,upstream_gene_variant,,ENST00000527927,;ARFGAP2,upstream_gene_variant,,ENST00000319543,;ARFGAP2,upstream_gene_variant,,ENST00000524782,;ARFGAP2,upstream_gene_variant,,ENST00000525314,;ARFGAP2,upstream_gene_variant,,ENST00000530596,;ARFGAP2,upstream_gene_variant,,ENST00000419701,;ARFGAP2,upstream_gene_variant,,ENST00000526342,;ARFGAP2,upstream_gene_variant,,ENST00000426335,;PACSIN3,downstream_gene_variant,,ENST00000525725,;PACSIN3,upstream_gene_variant,,ENST00000533686,;ARFGAP2,upstream_gene_variant,,ENST00000525398,;PACSIN3,downstream_gene_variant,,ENST00000531226,;PACSIN3,downstream_gene_variant,,ENST00000524509,;ARFGAP2,upstream_gene_variant,,ENST00000528444,;PACSIN3,downstream_gene_variant,,ENST00000530405,;ARFGAP2,upstream_gene_variant,,ENST00000395449,;ARFGAP2,upstream_gene_variant,,ENST00000533939,;ARFGAP2,upstream_gene_variant,,ENST00000531750,;ARFGAP2,upstream_gene_variant,,ENST00000529599,;PACSIN3,missense_variant,p.Gln189His,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000527097,;ARFGAP2,upstream_gene_variant,,ENST00000529439,;ARFGAP2,upstream_gene_variant,,ENST00000529455,;ARFGAP2,upstream_gene_variant,,ENST00000532478,;ARFGAP2,upstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000528708,;ARFGAP2,upstream_gene_variant,,ENST00000530794,;ARFGAP2,upstream_gene_variant,,ENST00000532438,;ARFGAP2,upstream_gene_variant,,ENST00000528041,;ARFGAP2,upstream_gene_variant,,ENST00000533243,;ARFGAP2,upstream_gene_variant,,ENST00000524727,;ARFGAP2,upstream_gene_variant,,ENST00000524586,;ARFGAP2,upstream_gene_variant,,ENST00000526185,;	910	21	30	SUCCESS
OR51G1	79324	.	GRCh37	11	4945191	4945191	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs148836962	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	25	97	0	ENST00000321961.2:c.379G>T	p.Ala127Ser	p.A127S	ENST00000321961	NM_001005237.1	127	Gcc/Tcc	0	.	T:0.0015	.	T:0	.	A	A/S	protein_coding	YES	CCDS31366.1	379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGCCACGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	T:0	.	ENSP00000322546	T:0	1/1	.	.	.	.	.	.	.	.	rs148836962	1/1	PASS	ENST00000321961	Transcript	.	T:0.0004	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	T:0	deleterious(0)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Ala127Ser,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	447	97	99	SUCCESS
ZFP91	80829	.	GRCh37	11	58384203	58384203	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	76	0	ENST00000316059.6:c.1117A>G	p.Ile373Val	p.I373V	ENST00000316059	NM_001197051.1	373	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31553.1	1117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATATCTGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR11389:SF437,hmmpanther:PTHR11389,PROSITE_profiles:PS50157	.	.	ENSP00000339030	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000316059	Transcript	.	.	ENSG00000186660	14983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0.05)	.	ZFP91_HUMAN	ZFP91	HGNC	B4DIN6_HUMAN	.	UPI0000070D45	SNV	ZFP91,missense_variant,p.Ile373Val,ENST00000316059,;ZFP91-CNTF,missense_variant,p.Ile373Val,ENST00000389919,;ZFP91-CNTF,missense_variant,p.Ile200Val,ENST00000422974,;	1288	76	92	SUCCESS
MPEG1	219972	.	GRCh37	11	58980026	58980026	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	73	0	ENST00000361050.3:c.313G>A	p.Ala105Thr	p.A105T	ENST00000361050	NM_001039396.1	105	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41650.1	313	MUTECT|MUSE|VARSCANS	.	ATTTGCCCAGG	NONE	.	.	hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3,PROSITE_profiles:PS51412	.	.	ENSP00000354335	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361050	Transcript	.	.	ENSG00000197629	29619	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.43)	.	MPEG1_HUMAN	MPEG1	HGNC	.	.	UPI0000049D9F	SNV	MPEG1,missense_variant,p.Ala105Thr,ENST00000361050,;DTX4,downstream_gene_variant,,ENST00000227451,;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	399	73	77	SUCCESS
PCNXL3	0	.	GRCh37	11	65394885	65394885	+	synonymous_variant	Silent	SNP	G	G	A	rs768105990	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	21	0	ENST00000355703.3:c.3534G>A	p.Ala1178=	p.A1178=	ENST00000355703	NM_032223.2	1178	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44650.1	3534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCTGCT	NONE	byFrequency	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	.	.	ENSP00000347931	.	22/35	.	.	.	.	.	.	.	.	rs768105990,COSM689990	22/35	PASS	ENST00000355703	Transcript	.	.	ENSG00000197136	18760	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PCX3_HUMAN	PCNXL3	HGNC	.	.	UPI0000405B22	SNV	PCNXL3,synonymous_variant,p.%3D,ENST00000355703,;PCNXL3,upstream_gene_variant,,ENST00000531280,;PCNXL3,non_coding_transcript_exon_variant,,ENST00000439247,;PCNXL3,downstream_gene_variant,,ENST00000530174,;	4073	21	29	SUCCESS
CCDC81	60494	.	GRCh37	11	86108768	86108768	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	49	0	ENST00000445632.2:c.741A>G	p.Lys247=	p.K247=	ENST00000445632	NM_001156474.1	247	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS53691.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAAGAAGA	NONE	.	.	hmmpanther:PTHR14362,hmmpanther:PTHR14362:SF2	.	.	ENSP00000415528	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000445632	Transcript	.	.	ENSG00000149201	26281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD81_HUMAN	CCDC81	HGNC	B4DQN0_HUMAN	.	UPI0000E5BE97	SNV	CCDC81,synonymous_variant,p.%3D,ENST00000528728,;CCDC81,synonymous_variant,p.%3D,ENST00000445632,;CCDC81,synonymous_variant,p.%3D,ENST00000278487,;CCDC81,synonymous_variant,p.%3D,ENST00000354755,;CCDC81,downstream_gene_variant,,ENST00000531271,;CCDC81,non_coding_transcript_exon_variant,,ENST00000529603,;CCDC81,intron_variant,,ENST00000530845,;CCDC81,intron_variant,,ENST00000532215,;CCDC81,intron_variant,,ENST00000532466,;	1013	49	45	SUCCESS
STAB2	55576	.	GRCh37	12	104077060	104077060	+	synonymous_variant	Silent	SNP	C	C	A	rs746505905	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	49	126	0	ENST00000388887.2:c.2883C>A	p.Thr961=	p.T961=	ENST00000388887	NM_017564.9	961	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31888.1	2883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACCGGGAA	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00181	.	.	ENSP00000373539	.	26/69	.	.	.	.	.	.	.	.	rs746505905,COSM691553	26/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,synonymous_variant,p.%3D,ENST00000388887,;	3087	126	161	SUCCESS
SSH1	54434	.	GRCh37	12	109192797	109192797	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1346792156	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	52	0	ENST00000326495.5:c.1328A>G	p.Tyr443Cys	p.Y443C	ENST00000326495	NM_018984.3	443	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9121.1	1328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATACTCA	NONE	.	.	PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000315713	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000326495	Transcript	.	.	ENSG00000084112	30579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SSH1_HUMAN	SSH1	HGNC	.	.	UPI000003E894	SNV	SSH1,missense_variant,p.Tyr454Cys,ENST00000326470,;SSH1,missense_variant,p.Tyr443Cys,ENST00000551165,;SSH1,missense_variant,p.Tyr443Cys,ENST00000326495,;SSH1,missense_variant,p.Tyr131Cys,ENST00000360239,;SSH1,3_prime_UTR_variant,,ENST00000546433,;	1422	52	55	SUCCESS
DDX54	79039	.	GRCh37	12	113599698	113599698	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	33	0	ENST00000306014.5:c.2300T>C	p.Leu767Pro	p.L767P	ENST00000306014	NM_024072.3	767	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS44984.1	2300	MUTECT|MUSE	.	GATACAGGTCT	NONE	.	.	hmmpanther:PTHR24031:SF71,hmmpanther:PTHR24031,Pfam_domain:PF08147	.	.	ENSP00000323858	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000314045	Transcript	.	.	ENSG00000123064	20084	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated(0.16)	.	DDX54_HUMAN	DDX54	HGNC	F8VRX4_HUMAN	.	UPI000006F3A5	SNV	DDX54,missense_variant,p.Leu767Pro,ENST00000306014,;DDX54,missense_variant,p.Leu767Pro,ENST00000314045,;CCDC42B,downstream_gene_variant,,ENST00000335621,;CCDC42B,downstream_gene_variant,,ENST00000550918,;DDX54,downstream_gene_variant,,ENST00000546898,;DDX54,downstream_gene_variant,,ENST00000550016,;DDX54,upstream_gene_variant,,ENST00000551912,;DDX54,upstream_gene_variant,,ENST00000549271,;CCDC42B,downstream_gene_variant,,ENST00000551256,;DDX54,downstream_gene_variant,,ENST00000548786,;AC089999.1,downstream_gene_variant,,ENST00000417436,;	2328	33	35	SUCCESS
SLC8B1	80024	.	GRCh37	12	113770749	113770749	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	14	0	ENST00000202831.3:c.-66G>A		p.*22*	ENST00000202831	NM_024959.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31909.1	.	RADIA|VARSCANS	.	AACAGCTGGCG	NONE	.	.	.	.	.	ENSP00000447091	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000552014	Transcript	.	.	ENSG00000089060	26175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCKX6_HUMAN	SLC8B1	HGNC	F8VWW9_HUMAN,F8VTU4_HUMAN,F8VR99_HUMAN	.	UPI000004FA44	SNV	SLC8B1,5_prime_UTR_variant,,ENST00000548186,;SLC8B1,5_prime_UTR_variant,,ENST00000552014,;SLC8B1,5_prime_UTR_variant,,ENST00000202831,;SLC8B1,5_prime_UTR_variant,,ENST00000549181,;SLC8B1,5_prime_UTR_variant,,ENST00000546737,;SLC8B1,5_prime_UTR_variant,,ENST00000549372,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000553238,;SLC8B1,intron_variant,,ENST00000551230,;SLC8B1,downstream_gene_variant,,ENST00000548518,;SLC8B1,5_prime_UTR_variant,,ENST00000549605,;SLC8B1,5_prime_UTR_variant,,ENST00000552613,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000548477,;	451	14	30	SUCCESS
HNF1A	6927	.	GRCh37	12	121435545	121435561	+	intron_variant	Intron	DEL	CTGGCAGGCATTGCAGT	CTGGCAGGCATTGCAGT	-	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	CTGGCAGGCATTGCAGT	CTGGCAGGCATTGCAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	107	0	ENST00000257555.6:c.1501+80_1501+96del		p.*501*	ENST00000257555				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9209.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTGCCTGGCAGGCATTGCAGTCTGCA	NONE	.	.	.	.	.	ENSP00000257555	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	3	.	MODIFIER	7/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	deletion	HNF1A,frameshift_variant,p.Trp527CysfsTer36,ENST00000400024,;HNF1A,frameshift_variant,p.Trp109CysfsTer36,ENST00000538626,;HNF1A,frameshift_variant,p.Trp99CysfsTer36,ENST00000535955,;HNF1A,3_prime_UTR_variant,,ENST00000402929,;HNF1A,intron_variant,,ENST00000544413,;HNF1A,intron_variant,,ENST00000541395,;HNF1A,intron_variant,,ENST00000257555,;C12orf43,downstream_gene_variant,,ENST00000445832,;HNF1A,downstream_gene_variant,,ENST00000543427,;RP11-216P16.2,downstream_gene_variant,,ENST00000606238,;HNF1A,3_prime_UTR_variant,,ENST00000544574,;HNF1A,3_prime_UTR_variant,,ENST00000541924,;HNF1A,3_prime_UTR_variant,,ENST00000538646,;HNF1A,non_coding_transcript_exon_variant,,ENST00000543255,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000540108,;	.	107	85	SUCCESS
EP400	57634	.	GRCh37	12	132445446	132445446	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	112	260	1	ENST00000389561.2:c.282G>T	p.Leu94=	p.L94=	ENST00000389561	NM_015409.4	94	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31929.2	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGCCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	.	ENSP00000374212	.	2/53	.	.	.	.	.	.	.	.	.	2/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,synonymous_variant,p.%3D,ENST00000389562,;EP400,synonymous_variant,p.%3D,ENST00000332482,;EP400,synonymous_variant,p.%3D,ENST00000389561,;EP400,synonymous_variant,p.%3D,ENST00000333577,;EP400,synonymous_variant,p.%3D,ENST00000330386,;	391	261	223	SUCCESS
LRRK2	120892	.	GRCh37	12	40714888	40714889	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	99	0	ENST00000298910.7:c.5070dup	p.Ile1691TyrfsTer6	p.I1691Yfs*6	ENST00000298910	NM_198578.3	1690	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS31774.1	5068-5069	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAAATTATC	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	.	.	ENSP00000298910	.	35/51	.	.	.	.	.	.	.	.	.	35/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	insertion	LRRK2,frameshift_variant,p.Ile1691TyrfsTer6,ENST00000298910,;LRRK2,downstream_gene_variant,,ENST00000481256,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	5126-5127	99	102	SUCCESS
PDZRN4	29951	.	GRCh37	12	41966302	41966302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	75	186	0	ENST00000402685.2:c.1721C>A	p.Ala574Asp	p.A574D	ENST00000402685	NM_001164595.1	574	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS53777.1	1721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCGAGG	NONE	.	.	hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545	.	.	ENSP00000384197	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	tolerated(0.06)	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,missense_variant,p.Ala314Asp,ENST00000298919,;PDZRN4,missense_variant,p.Ala316Asp,ENST00000539469,;PDZRN4,missense_variant,p.Ala574Asp,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	1729	186	148	SUCCESS
RHEBL1	121268	.	GRCh37	12	49463725	49463725	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	9	0	ENST00000301068.6:c.-157G>C		p.*53*	ENST00000301068	NM_144593.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8778.1	.	MUTECT|MUSE|VARSCANS	.	GCGCCCGGAGC	NONE	.	.	.	.	.	ENSP00000301068	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000301068	Transcript	.	.	ENSG00000167550	21166	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REBL1_HUMAN	RHEBL1	HGNC	.	.	UPI00000412A8	SNV	RHEBL1,5_prime_UTR_variant,,ENST00000301068,;RHEBL1,upstream_gene_variant,,ENST00000550675,;RHEBL1,5_prime_UTR_variant,,ENST00000550797,;RHEBL1,5_prime_UTR_variant,,ENST00000420065,;	84	9	16	SUCCESS
KRT76	51350	.	GRCh37	12	53170525	53170525	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775205869	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	33	121	0	ENST00000332411.2:c.551G>T	p.Arg184Leu	p.R184L	ENST00000332411	NM_015848.4	184	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS8838.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCGCTCC	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF88,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000330101	.	1/9	.	.	.	.	.	.	.	.	rs775205869	1/9	PASS	ENST00000332411	Transcript	.	.	ENSG00000185069	24430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	K22O_HUMAN	KRT76	HGNC	.	.	UPI000019B3C1	SNV	KRT76,missense_variant,p.Arg184Leu,ENST00000332411,;	605	121	107	SUCCESS
KRT4	3851	.	GRCh37	12	53207647	53207647	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	39	92	0	ENST00000293774.4:c.418G>A	p.Ala140Thr	p.A140T	ENST00000293774		140	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41787.2	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCACAC	NONE	.	.	hmmpanther:PTHR23239:SF85,hmmpanther:PTHR23239	.	.	ENSP00000448220	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000551956	Transcript	.	.	ENSG00000170477	6441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0.04)	.	K2C4_HUMAN	KRT4	HGNC	Q9UEK9_HUMAN	.	UPI00001AEBB1	SNV	KRT4,missense_variant,p.Ala140Thr,ENST00000293774,;KRT4,missense_variant,p.Ala66Thr,ENST00000551956,;KRT4,intron_variant,,ENST00000458244,;KRT4,missense_variant,p.Ala66Thr,ENST00000548097,;KRT4,missense_variant,p.Ala66Thr,ENST00000552668,;KRT4,upstream_gene_variant,,ENST00000551436,;KRT4,upstream_gene_variant,,ENST00000549295,;	689	92	71	SUCCESS
DTX3	196403	.	GRCh37	12	58002913	58002913	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748571053	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	35	86	0	ENST00000337737.3:c.1022C>T	p.Ala341Val	p.A341V	ENST00000337737	NM_178502.2	341	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS41800.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCGAAGG	NONE	.	.	hmmpanther:PTHR12622	.	.	ENSP00000447873	.	5/5	.	.	.	.	.	.	.	.	rs748571053	5/5	PASS	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.26)	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,missense_variant,p.Ala341Val,ENST00000337737,;DTX3,missense_variant,p.Ala341Val,ENST00000548804,;DTX3,missense_variant,p.Ala341Val,ENST00000548198,;DTX3,missense_variant,p.Ala344Val,ENST00000551632,;DTX3,3_prime_UTR_variant,,ENST00000550300,;DTX3,downstream_gene_variant,,ENST00000549583,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000548478,;DTX3,downstream_gene_variant,,ENST00000550596,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;ARHGEF25,upstream_gene_variant,,ENST00000471370,;	2526	86	78	SUCCESS
MDM1	56890	.	GRCh37	12	68726034	68726034	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs771162551	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	66	0	ENST00000303145.7:c.-9C>A		p.*3*	ENST00000303145	NM_017440.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8983.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGCGCCG	NONE	.	.	.	.	.	ENSP00000302537	.	1/14	.	.	.	.	.	.	.	.	rs771162551	1/14	PASS	ENST00000303145	Transcript	.	.	ENSG00000111554	29917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDM1_HUMAN	MDM1	HGNC	F5H804_HUMAN	.	UPI00001FC70C	SNV	MDM1,5_prime_UTR_variant,,ENST00000393543,;MDM1,5_prime_UTR_variant,,ENST00000411698,;MDM1,5_prime_UTR_variant,,ENST00000430606,;MDM1,5_prime_UTR_variant,,ENST00000540418,;MDM1,5_prime_UTR_variant,,ENST00000303145,;MDM1,upstream_gene_variant,,ENST00000541686,;RP11-81H14.2,downstream_gene_variant,,ENST00000539404,;RP11-81H14.2,downstream_gene_variant,,ENST00000541707,;RP11-81H14.2,downstream_gene_variant,,ENST00000546086,;MDM1,non_coding_transcript_exon_variant,,ENST00000545724,;MDM1,non_coding_transcript_exon_variant,,ENST00000541087,;	79	66	58	SUCCESS
SYT1	6857	.	GRCh37	12	79689884	79689884	+	synonymous_variant	Silent	SNP	C	C	T	rs369758844	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	97	1	ENST00000261205.4:c.510C>T	p.Pro170=	p.P170=	ENST00000261205	NM_005639.2	170	ccC/ccT	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS9017.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGCCTT	CODON|p.A171T|c.511G>A|3	byFrequency|byCluster	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF183,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	T:0.0001	ENSP00000261205	.	7/11	.	.	.	.	.	.	.	.	rs369758844,COSM84181	7/11	PASS	ENST00000261205	Transcript	.	.	ENSG00000067715	11509	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SYT1_HUMAN	SYT1	HGNC	F8W1U9_HUMAN,F8VZY3_HUMAN,F8VYH8_HUMAN,F8VP93_HUMAN,C9JX50_HUMAN	.	UPI000013669A	SNV	SYT1,synonymous_variant,p.%3D,ENST00000549559,;SYT1,synonymous_variant,p.%3D,ENST00000552624,;SYT1,synonymous_variant,p.%3D,ENST00000457153,;SYT1,synonymous_variant,p.%3D,ENST00000446242,;SYT1,synonymous_variant,p.%3D,ENST00000393240,;SYT1,synonymous_variant,p.%3D,ENST00000261205,;SYT1,synonymous_variant,p.%3D,ENST00000552744,;	1167	98	63	SUCCESS
PTPRQ	374462	.	GRCh37	12	80887176	80887176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	74	0	ENST00000266688.5:c.1470C>A	p.Ser490Arg	p.S490R	ENST00000266688		490	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	.	1470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCCATCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,SMART_domains:SM00060	.	.	ENSP00000266688	.	15/50	.	.	.	.	.	.	.	.	.	15/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.11)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Ser490Arg,ENST00000266688,;	1470	74	74	SUCCESS
DCN	1634	.	GRCh37	12	91558395	91558395	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs993484273	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	16	85	0	ENST00000052754.5:c.311T>C	p.Leu104Pro	p.L104P	ENST00000052754	NM_001920.3	104	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9039.1	311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAGGTTC	NONE	.	.	hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	.	ENSP00000052754	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000052754	Transcript	.	.	ENSG00000011465	2705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PGS2_HUMAN	DCN	HGNC	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN	.	UPI000013187E	SNV	DCN,missense_variant,p.Leu104Pro,ENST00000547937,;DCN,missense_variant,p.Leu104Pro,ENST00000052754,;DCN,missense_variant,p.Leu104Pro,ENST00000550563,;DCN,missense_variant,p.Leu104Pro,ENST00000552962,;DCN,missense_variant,p.Leu104Pro,ENST00000441303,;DCN,missense_variant,p.Leu104Pro,ENST00000393155,;DCN,missense_variant,p.Leu104Pro,ENST00000552145,;DCN,missense_variant,p.Leu104Pro,ENST00000549513,;DCN,missense_variant,p.Leu104Pro,ENST00000303320,;DCN,intron_variant,,ENST00000228329,;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000456569,;DCN,intron_variant,,ENST00000420120,;DCN,intron_variant,,ENST00000425043,;DCN,intron_variant,,ENST00000547568,;	813	85	90	SUCCESS
RNF17	56163	.	GRCh37	13	25416232	25416232	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140457030	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	72	0	ENST00000255324.5:c.2536C>T	p.Pro846Ser	p.P846S	ENST00000255324	NM_031277.2	846	Cct/Tct	0	T:0.0009	.	.	.	.	T	P/S	protein_coding	YES	CCDS9308.2	2536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTCCTGAA	NONE	byCluster	.	hmmpanther:PTHR16442,Gene3D:2.40.50.90,Superfamily_domains:0047647	.	T:0	ENSP00000255324	.	19/36	.	.	.	.	.	.	.	.	rs140457030,COSM3885131	19/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.054)	.	tolerated(0.64)	0,1	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,missense_variant,p.Pro846Ser,ENST00000255324,;RNF17,missense_variant,p.Pro846Ser,ENST00000381921,;RNF17,missense_variant,p.Pro170Ser,ENST00000418120,;RNF17,upstream_gene_variant,,ENST00000339524,;	2588	72	57	SUCCESS
AHNAK2	113146	.	GRCh37	14	105413999	105413999	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	69	182	0	ENST00000333244.5:c.7789G>T	p.Gly2597Cys	p.G2597C	ENST00000333244	NM_138420.2	2597	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS45177.1	7789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCTTTCA	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Gly2597Cys,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7909	182	170	SUCCESS
PRKD1	5587	.	GRCh37	14	30100159	30100159	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	39	175	0	ENST00000331968.5:c.1461C>T	p.Ala487=	p.A487=	ENST00000331968	NM_002742.2	487	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9637.1	1461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTGGCCCC	NONE	.	.	Superfamily_domains:SSF50729,PIRSF_domain:PIRSF000552,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22968,PROSITE_profiles:PS50003	.	.	ENSP00000333568	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000331968	Transcript	.	.	ENSG00000184304	9407	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCD1_HUMAN	PRKD1	HGNC	Q1KKQ2_HUMAN	.	UPI0000456761	SNV	PRKD1,synonymous_variant,p.%3D,ENST00000415220,;PRKD1,synonymous_variant,p.%3D,ENST00000331968,;PRKD1,synonymous_variant,p.%3D,ENST00000546371,;	1691	175	122	SUCCESS
ESR2	2100	.	GRCh37	14	64727461	64727461	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	42	0	ENST00000341099.4:c.658C>A	p.Arg220=	p.R220=	ENST00000341099	NM_001437.2	220	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9762.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGGGAGC	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF1,Gene3D:1.10.565.10,PIRSF_domain:PIRSF500102,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF57716,Prints_domain:PR00398	.	.	ENSP00000343925	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000341099	Transcript	.	.	ENSG00000140009	3468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESR2_HUMAN	ESR2	HGNC	Q7LCB3_HUMAN,G3V5S2_HUMAN	.	UPI0000000964	SNV	ESR2,synonymous_variant,p.%3D,ENST00000357782,;ESR2,synonymous_variant,p.%3D,ENST00000553796,;ESR2,synonymous_variant,p.%3D,ENST00000353772,;ESR2,synonymous_variant,p.%3D,ENST00000267525,;ESR2,synonymous_variant,p.%3D,ENST00000341099,;ESR2,synonymous_variant,p.%3D,ENST00000555278,;ESR2,synonymous_variant,p.%3D,ENST00000556275,;ESR2,synonymous_variant,p.%3D,ENST00000557772,;ESR2,synonymous_variant,p.%3D,ENST00000554572,;ESR2,synonymous_variant,p.%3D,ENST00000542956,;ESR2,synonymous_variant,p.%3D,ENST00000358599,;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,;ESR2,upstream_gene_variant,,ENST00000555783,;ESR2,synonymous_variant,p.%3D,ENST00000344288,;	1076	42	38	SUCCESS
ZBTB25	7597	.	GRCh37	14	64954580	64954580	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	73	177	1	ENST00000394715.1:c.369G>T	p.Val123=	p.V123=	ENST00000394715		123	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9765.1	369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCACAGT	NONE	.	.	hmmpanther:PTHR23228:SF6,hmmpanther:PTHR23228	.	.	ENSP00000476746	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000608382	Transcript	.	.	ENSG00000089775	13112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZBTB25	HGNC	.	.	UPI0000074252	SNV	ZBTB25,synonymous_variant,p.%3D,ENST00000394715,;ZBTB25,synonymous_variant,p.%3D,ENST00000608382,;ZBTB25,intron_variant,,ENST00000555424,;ZBTB25,intron_variant,,ENST00000555220,;	561	178	158	SUCCESS
ASB2	51676	.	GRCh37	14	94423371	94423371	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	23	0	ENST00000315988.4:c.-93A>T		p.*31*	ENST00000315988	NM_016150.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55940.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCTCTGTGTG	NONE	.	.	.	.	.	ENSP00000451575	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000555019	Transcript	.	.	ENSG00000100628	16012	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASB2_HUMAN	ASB2	HGNC	G3V484_HUMAN,B3KPZ6_HUMAN	.	UPI000013D23C	SNV	ASB2,5_prime_UTR_variant,,ENST00000315988,;ASB2,intron_variant,,ENST00000557613,;ASB2,intron_variant,,ENST00000555019,;ASB2,intron_variant,,ENST00000555287,;ASB2,upstream_gene_variant,,ENST00000556062,;ASB2,upstream_gene_variant,,ENST00000555507,;ASB2,intron_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000556793,;	.	23	22	SUCCESS
SERPINA3	12	.	GRCh37	14	95078741	95078741	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs766599159	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	72	0	ENST00000393080.4:c.-48G>A		p.*16*	ENST00000393080				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32150.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGACGGC	NONE	.	.	.	.	.	ENSP00000450540	.	1/5	.	.	.	.	.	.	.	.	rs766599159	1/5	PASS	ENST00000467132	Transcript	1	.	ENSG00000196136	16	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AACT_HUMAN	SERPINA3	HGNC	G3V5I3_HUMAN,G3V3A0_HUMAN	.	UPI000012509B	SNV	SERPINA3,5_prime_UTR_variant,,ENST00000393078,;SERPINA3,5_prime_UTR_variant,,ENST00000467132,;SERPINA3,5_prime_UTR_variant,,ENST00000393080,;SERPINA3,non_coding_transcript_exon_variant,,ENST00000556388,;SERPINA3,non_coding_transcript_exon_variant,,ENST00000485588,;SERPINA3,synonymous_variant,p.%3D,ENST00000555820,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;SERPINA3,upstream_gene_variant,,ENST00000556968,;	14	72	61	SUCCESS
AK7	122481	.	GRCh37	14	96864716	96864716	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	21	0	ENST00000267584.4:c.294+116G>T		p.*98*	ENST00000267584	NM_152327.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9945.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGCCAGG	NONE	.	.	.	.	.	ENSP00000267584	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267584	Transcript	.	.	ENSG00000140057	20091	.	.	MODIFIER	2/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAD7_HUMAN	AK7	HGNC	.	.	UPI00001FDB1D	SNV	AK7,3_prime_UTR_variant,,ENST00000555570,;AK7,intron_variant,,ENST00000267584,;AK7,intron_variant,,ENST00000554313,;AK7,intron_variant,,ENST00000556643,;	.	21	15	SUCCESS
GOLGA6L6	727832	.	GRCh37	15	20740171	20740171	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	64	239	0	ENST00000427390.2:c.1579C>A	p.Arg527=	p.R527=	ENST00000427390	NM_001145004.1	527	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS45184.1	1579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGTATCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF9	.	.	ENSP00000398615	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000427390	Transcript	.	.	ENSG00000215405	37225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GG6L6_HUMAN	GOLGA6L6	HGNC	.	.	UPI000192952E	SNV	GOLGA6L6,synonymous_variant,p.%3D,ENST00000427390,;	1670	239	170	SUCCESS
GABRA5	2558	.	GRCh37	15	27128577	27128577	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	106	0	ENST00000335625.5:c.370C>A	p.Leu124Ile	p.L124I	ENST00000335625	NM_000810.3	124	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS45194.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCTTGCC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000335592	.	6/11	.	.	.	.	.	.	.	.	COSM3886803	6/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,missense_variant,p.Leu124Ile,ENST00000355395,;GABRA5,missense_variant,p.Leu124Ile,ENST00000335625,;GABRA5,missense_variant,p.Leu124Ile,ENST00000554596,;GABRA5,missense_variant,p.Leu124Ile,ENST00000554599,;GABRA5,missense_variant,p.Leu92Ile,ENST00000555182,;GABRA5,missense_variant,p.Leu124Ile,ENST00000400081,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000554083,;GABRA5,downstream_gene_variant,,ENST00000554038,;GABRA5,intron_variant,,ENST00000557449,;	1258	106	80	SUCCESS
DUOX1	53905	.	GRCh37	15	45437120	45437120	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772812512	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	80	0	ENST00000321429.4:c.2164C>T	p.Arg722Trp	p.R722W	ENST00000321429	NM_017434.3	722	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32221.1	2164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCGGCAG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37	.	.	ENSP00000317997	.	19/35	.	.	.	.	.	.	.	.	rs772812512,COSM4148799,COSM4148800	19/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.549)	.	deleterious(0)	0,1,1	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,missense_variant,p.Arg722Trp,ENST00000389037,;DUOX1,missense_variant,p.Arg722Trp,ENST00000321429,;DUOX1,missense_variant,p.Arg368Trp,ENST00000561166,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000557893,;DUOX1,upstream_gene_variant,,ENST00000559219,;DUOX1,downstream_gene_variant,,ENST00000558991,;	2571	80	54	SUCCESS
TPM1	7168	.	GRCh37	15	63335126	63335126	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	28	135	1	ENST00000403994.3:c.98A>G	p.Glu33Gly	p.E33G	ENST00000403994	NM_001018005.1	33	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32263.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGAAGACA	NONE	.	.	Superfamily_domains:SSF57997,Gene3D:1.20.5.340,hmmpanther:PTHR19269,hmmpanther:PTHR19269:SF37,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000351022	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000358278	Transcript	1	.	ENSG00000140416	12010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TPM1_HUMAN	TPM1	HGNC	H0YL42_HUMAN,D9YZV5_HUMAN	.	UPI000002B5A9	SNV	TPM1,missense_variant,p.Glu14Gly,ENST00000560970,;TPM1,missense_variant,p.Glu33Gly,ENST00000288398,;TPM1,missense_variant,p.Glu33Gly,ENST00000358278,;TPM1,missense_variant,p.Glu33Gly,ENST00000559556,;TPM1,missense_variant,p.Glu33Gly,ENST00000559397,;TPM1,missense_variant,p.Glu33Gly,ENST00000403994,;TPM1,missense_variant,p.Glu33Gly,ENST00000560445,;TPM1,missense_variant,p.Glu33Gly,ENST00000357980,;TPM1,missense_variant,p.Glu33Gly,ENST00000267996,;TPM1,upstream_gene_variant,,ENST00000561266,;RP11-244F12.3,downstream_gene_variant,,ENST00000560903,;RP11-244F12.3,downstream_gene_variant,,ENST00000561241,;TPM1,missense_variant,p.Glu33Gly,ENST00000561425,;TPM1,missense_variant,p.Glu33Gly,ENST00000558347,;TPM1,non_coding_transcript_exon_variant,,ENST00000558314,;TPM1,non_coding_transcript_exon_variant,,ENST00000560975,;TPM1,upstream_gene_variant,,ENST00000559831,;	243	136	149	SUCCESS
ANKDD1A	348094	.	GRCh37	15	65208032	65208032	+	intron_variant	Intron	SNP	G	G	A	rs553148491	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	52	0	ENST00000319580.8:c.34+3869G>A		p.*12*	ENST00000319580		24		0	.	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS10197.2	71	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGCCAGA	SITE|p.R24H|c.71G>A|3	by1000G	.	Superfamily_domains:SSF48403,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24125,hmmpanther:PTHR24125:SF0,PROSITE_profiles:PS50297	A:0	.	ENSP00000369579	A:0	2/15	.	.	.	.	.	.	.	.	rs553148491,COSM963979	2/15	PASS	ENST00000380230	Transcript	.	A:0.0002	ENSG00000166839	28002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.081)	A:0	tolerated(0.09)	0,1	AKD1A_HUMAN	ANKDD1A	HGNC	Q6PI29_HUMAN	.	UPI0000D79C72	SNV	ANKDD1A,missense_variant,p.Arg24His,ENST00000395720,;ANKDD1A,missense_variant,p.Arg24His,ENST00000380230,;ANKDD1A,missense_variant,p.Arg24His,ENST00000357698,;AC069368.3,intron_variant,,ENST00000437723,;ANKDD1A,intron_variant,,ENST00000496660,;ANKDD1A,intron_variant,,ENST00000319580,;ANKDD1A,upstream_gene_variant,,ENST00000483400,;ANKDD1A,non_coding_transcript_exon_variant,,ENST00000491145,;ANKDD1A,intron_variant,,ENST00000496480,;ANKDD1A,missense_variant,p.Arg24His,ENST00000513267,;AC069368.3,intron_variant,,ENST00000502574,;	100	52	41	SUCCESS
LOXL1	4016	.	GRCh37	15	74235272	74235272	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs566197761	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	127	0	ENST00000261921.7:c.1180C>T	p.Arg394Cys	p.R394C	ENST00000261921	NM_005576.2	394	Cgc/Tgc	0	.	T:0	.	T:0.0014	.	T	R/C	protein_coding	YES	CCDS10253.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCGCTGT	NONE	by1000G	.	Prints_domain:PR00074,Pfam_domain:PF01186,hmmpanther:PTHR19331:SF4,hmmpanther:PTHR19331	T:0	.	ENSP00000261921	T:0	2/7	.	.	.	.	.	.	.	.	rs566197761,COSM4056757	2/7	PASS	ENST00000261921	Transcript	1	T:0.0002	ENSG00000129038	6665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.996)	T:0	deleterious(0)	0,1	LOXL1_HUMAN	LOXL1	HGNC	.	.	UPI000013D224	SNV	LOXL1,missense_variant,p.Arg394Cys,ENST00000261921,;LOXL1,upstream_gene_variant,,ENST00000567675,;LOXL1,3_prime_UTR_variant,,ENST00000566011,;LOXL1,upstream_gene_variant,,ENST00000566530,;LOXL1,upstream_gene_variant,,ENST00000562548,;	1506	127	82	SUCCESS
ISLR	3671	.	GRCh37	15	74467261	74467261	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	52	0	ENST00000249842.3:c.62A>G	p.Glu21Gly	p.E21G	ENST00000249842	NM_005545.3	21	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10260.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGAGCCCT	NONE	.	.	hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF10,Gene3D:3.80.10.10	.	.	ENSP00000249842	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249842	Transcript	.	.	ENSG00000129009	6133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious(0.02)	.	ISLR_HUMAN	ISLR	HGNC	H0YN67_HUMAN,H0YL90_HUMAN	.	UPI0000049E09	SNV	ISLR,missense_variant,p.Glu21Gly,ENST00000395118,;ISLR,missense_variant,p.Glu21Gly,ENST00000560862,;ISLR,missense_variant,p.Glu21Gly,ENST00000559510,;ISLR,missense_variant,p.Glu21Gly,ENST00000249842,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000323940,;STRA6,downstream_gene_variant,,ENST00000535552,;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000423167,;STRA6,downstream_gene_variant,,ENST00000395105,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	419	52	36	SUCCESS
ARID3B	10620	.	GRCh37	15	74836781	74836781	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	94	0	ENST00000346246.5:c.504C>T	p.Val168=	p.V168=	ENST00000346246	NM_006465.2	168	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10264.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCTCCAC	NONE	.	.	hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF3	.	.	ENSP00000343126	.	2/9	.	.	.	.	.	.	.	.	COSM3503939	2/9	PASS	ENST00000346246	Transcript	.	.	ENSG00000179361	14350	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ARI3B_HUMAN	ARID3B	HGNC	H3BQ92_HUMAN	.	UPI0000070441	SNV	ARID3B,synonymous_variant,p.%3D,ENST00000346246,;ARID3B,5_prime_UTR_variant,,ENST00000566147,;ARID3B,non_coding_transcript_exon_variant,,ENST00000569680,;	735	94	73	SUCCESS
PDE8A	5151	.	GRCh37	15	85681082	85681082	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	134	0	ENST00000310298.4:c.2438G>T	p.Trp813Leu	p.W813L	ENST00000310298		813	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS10336.1	2438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGGAAAG	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000311453	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,missense_variant,p.Trp813Leu,ENST00000394553,;PDE8A,missense_variant,p.Trp767Leu,ENST00000339708,;PDE8A,missense_variant,p.Trp813Leu,ENST00000310298,;PDE8A,missense_variant,p.Trp741Leu,ENST00000557957,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000561024,;	2690	134	97	SUCCESS
AGBL1	123624	.	GRCh37	15	87097615	87097615	+	synonymous_variant	Silent	SNP	G	G	A	rs1338039141	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	67	0	ENST00000441037.2:c.2703G>A	p.Lys901=	p.K901=	ENST00000441037	NM_152336.2	901	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS58398.1	2703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAAGCTAGC	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756,Pfam_domain:PF00246,Superfamily_domains:SSF53187	.	.	ENSP00000413001	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;	2798	67	54	SUCCESS
NR2F2	7026	.	GRCh37	15	96876489	96876489	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	35	139	1	ENST00000394166.3:c.442+713G>C		p.*148*	ENST00000394166	NM_021005.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10375.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGCTCGG	NONE	.	.	.	.	.	ENSP00000377721	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	SNV	NR2F2,5_prime_UTR_variant,,ENST00000453270,;NR2F2,intron_variant,,ENST00000394166,;NR2F2,intron_variant,,ENST00000421109,;NR2F2,intron_variant,,ENST00000394171,;NR2F2,intron_variant,,ENST00000559679,;MIR1469,upstream_gene_variant,,ENST00000410719,;	.	140	97	SUCCESS
SSTR5	6755	.	GRCh37	16	1129560	1129560	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760497351	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	41	62	0	ENST00000293897.4:c.692C>A	p.Ala231Glu	p.A231E	ENST00000293897	NM_001053.3	231	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS10429.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGGGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF20,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00246,Prints_domain:PR00591	.	.	ENSP00000293897	.	1/1	.	.	.	.	.	.	.	.	rs760497351	1/1	PASS	ENST00000293897	Transcript	.	.	ENSG00000162009	11334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.574)	.	tolerated(0.07)	.	SSR5_HUMAN	SSTR5	HGNC	.	.	UPI00000015DC	SNV	SSTR5,missense_variant,p.Ala231Glu,ENST00000293897,;SSTR5,missense_variant,p.Ala231Glu,ENST00000397547,;SSTR5,intron_variant,,ENST00000562758,;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;	780	62	57	SUCCESS
ARHGAP17	55114	.	GRCh37	16	24955152	24955152	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769354198	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	67	1	ENST00000289968.6:c.1273G>A	p.Val425Ile	p.V425I	ENST00000289968	NM_001006634.1	425	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS32409.1	1273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACGGATG	NONE	byFrequency	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14130:SF3,hmmpanther:PTHR14130,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000289968	.	15/20	.	.	.	.	.	.	.	.	rs769354198	15/20	PASS	ENST00000289968	Transcript	.	.	ENSG00000140750	18239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	tolerated(0.3)	.	RHG17_HUMAN	ARHGAP17	HGNC	I3L4P6_HUMAN	.	UPI00000433FD	SNV	ARHGAP17,missense_variant,p.Val425Ile,ENST00000289968,;ARHGAP17,missense_variant,p.Val425Ile,ENST00000303665,;ARHGAP17,3_prime_UTR_variant,,ENST00000441763,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000572314,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575412,;ARHGAP17,downstream_gene_variant,,ENST00000570841,;ARHGAP17,upstream_gene_variant,,ENST00000575283,;	1343	68	112	SUCCESS
GSG1L	146395	.	GRCh37	16	27840186	27840186	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759434857	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	40	146	0	ENST00000447459.2:c.754C>T	p.Arg252Cys	p.R252C	ENST00000447459	NM_001109763.1	252	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45450.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGCTTGT	NONE	.	.	hmmpanther:PTHR10671:SF35,hmmpanther:PTHR10671	.	.	ENSP00000394954	.	5/7	.	.	.	.	.	.	.	.	rs759434857	5/7	PASS	ENST00000447459	Transcript	.	.	ENSG00000169181	28283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.05)	.	GSG1L_HUMAN	GSG1L	HGNC	.	.	UPI0000EE765B	SNV	GSG1L,missense_variant,p.Arg97Cys,ENST00000380897,;GSG1L,missense_variant,p.Arg97Cys,ENST00000569166,;GSG1L,missense_variant,p.Arg201Cys,ENST00000395724,;GSG1L,missense_variant,p.Arg252Cys,ENST00000447459,;GSG1L,missense_variant,p.Arg97Cys,ENST00000380898,;GSG1L,3_prime_UTR_variant,,ENST00000562611,;	839	146	134	SUCCESS
ITGAD	3681	.	GRCh37	16	31405619	31405619	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	12	117	0	ENST00000389202.2:c.94G>T	p.Ala32Ser	p.A32S	ENST00000389202	NM_005353.2	32	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32438.1	94	RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGCAGGC	NONE	.	.	Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS51470	.	.	ENSP00000373854	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.231)	.	tolerated(0.4)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Ala32Ser,ENST00000389202,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	143	117	94	SUCCESS
HMOX2	3163	.	GRCh37	16	4559455	4559455	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	63	0	ENST00000219700.6:c.739G>T	p.Glu247Ter	p.E247*	ENST00000219700	NM_001286268.1	247	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10517.1	739	MUTECT|MUSE	.	CCAGAGAGACC	NONE	.	.	hmmpanther:PTHR10720:SF2,hmmpanther:PTHR10720,PIRSF_domain:PIRSF000343,Superfamily_domains:SSF48613	.	.	ENSP00000459214	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000570646	Transcript	.	.	ENSG00000103415	5014	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMOX2_HUMAN	HMOX2	HGNC	I3L4P8_HUMAN,I3L463_HUMAN,I3L430_HUMAN,I3L276_HUMAN,I3L1F5_HUMAN,I3L159_HUMAN	.	UPI000012CAAC	SNV	HMOX2,stop_gained,p.Glu64Ter,ENST00000570622,;HMOX2,stop_gained,p.Glu247Ter,ENST00000458134,;HMOX2,stop_gained,p.Glu247Ter,ENST00000570646,;HMOX2,stop_gained,p.Glu247Ter,ENST00000406590,;HMOX2,stop_gained,p.Glu218Ter,ENST00000575120,;HMOX2,stop_gained,p.Glu247Ter,ENST00000398595,;HMOX2,stop_gained,p.Glu247Ter,ENST00000219700,;HMOX2,stop_gained,p.Glu247Ter,ENST00000414777,;HMOX2,downstream_gene_variant,,ENST00000575129,;CDIP1,downstream_gene_variant,,ENST00000563186,;CDIP1,downstream_gene_variant,,ENST00000567695,;HMOX2,downstream_gene_variant,,ENST00000572812,;HMOX2,downstream_gene_variant,,ENST00000576827,;HMOX2,downstream_gene_variant,,ENST00000575051,;CDIP1,downstream_gene_variant,,ENST00000562579,;CDIP1,downstream_gene_variant,,ENST00000562334,;CDIP1,downstream_gene_variant,,ENST00000564828,;CDIP1,downstream_gene_variant,,ENST00000563332,;CDIP1,downstream_gene_variant,,ENST00000589890,;CDIP1,downstream_gene_variant,,ENST00000563507,;CDIP1,downstream_gene_variant,,ENST00000399599,;HMOX2,downstream_gene_variant,,ENST00000574466,;CDIP1,downstream_gene_variant,,ENST00000588381,;HMOX2,downstream_gene_variant,,ENST00000570445,;CDIP1,downstream_gene_variant,,ENST00000586728,;CDIP1,downstream_gene_variant,,ENST00000566234,;CDIP1,downstream_gene_variant,,ENST00000589159,;	1344	63	48	SUCCESS
ABCC12	94160	.	GRCh37	16	48119516	48119516	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	40	171	0	ENST00000311303.3:c.3816C>A	p.Leu1272=	p.L1272=	ENST00000311303	NM_033226.2	1272	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10730.1	3816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACGGAGAAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311030	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000311303	Transcript	.	.	ENSG00000140798	14640	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP9_HUMAN	ABCC12	HGNC	E9PHY2_HUMAN	.	UPI0000456987	SNV	ABCC12,synonymous_variant,p.%3D,ENST00000311303,;ABCC12,3_prime_UTR_variant,,ENST00000416054,;ABCC12,3_prime_UTR_variant,,ENST00000448542,;ABCC12,non_coding_transcript_exon_variant,,ENST00000532355,;ABCC12,3_prime_UTR_variant,,ENST00000532494,;ABCC12,3_prime_UTR_variant,,ENST00000529504,;ABCC12,3_prime_UTR_variant,,ENST00000497206,;ABCC12,3_prime_UTR_variant,,ENST00000534418,;ABCC12,3_prime_UTR_variant,,ENST00000529084,;ABCC12,downstream_gene_variant,,ENST00000526251,;	4162	171	132	SUCCESS
ALG1	56052	.	GRCh37	16	5121883	5121883	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	13	28	0	ENST00000262374.5:c.33G>A	p.Leu11=	p.L11=	ENST00000262374	NM_019109.4	11	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10528.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTGTGTCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0	.	.	ENSP00000262374	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000262374	Transcript	.	.	ENSG00000033011	18294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALG1_HUMAN	ALG1	HGNC	K7EID2_HUMAN,B4DP08_HUMAN	.	UPI000003B09B	SNV	ALG1,synonymous_variant,p.%3D,ENST00000586840,;ALG1,synonymous_variant,p.%3D,ENST00000262374,;ALG1,intron_variant,,ENST00000588623,;ALG1,upstream_gene_variant,,ENST00000544428,;ALG1,upstream_gene_variant,,ENST00000591783,;ALG1,synonymous_variant,p.%3D,ENST00000591822,;ALG1,non_coding_transcript_exon_variant,,ENST00000592793,;	64	28	16	SUCCESS
CNTNAP4	85445	.	GRCh37	16	76592443	76592443	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1013424268	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	48	160	0	ENST00000478060.1:c.3571A>G	p.Ile1191Val	p.I1191V	ENST00000478060	NM_138994.3	1191	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS10924.2	3571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGCATTTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560	.	.	ENSP00000418741	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000478060	Transcript	.	.	ENSG00000152910	18747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.14)	.	CNTP4_HUMAN	CNTNAP4	HGNC	H3BPC8_HUMAN	.	UPI000059D3C6	SNV	CNTNAP4,missense_variant,p.Ile1191Val,ENST00000478060,;CNTNAP4,missense_variant,p.Ile1215Val,ENST00000377504,;CNTNAP4,missense_variant,p.Ile1263Val,ENST00000307431,;CNTNAP4,missense_variant,p.Ile1267Val,ENST00000476707,;RP11-58C22.1,intron_variant,,ENST00000563764,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;	3571	160	163	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77355100	77355100	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	97	0	ENST00000282849.5:c.2164-1G>A		p.X722_splice	ENST00000282849	NM_199355.2	722		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10926.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAGCTGTGA	NONE	.	.	.	.	.	ENSP00000282849	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282849	Transcript	.	.	ENSG00000140873	17110	.	.	HIGH	14/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,splice_acceptor_variant,,ENST00000282849,;ADAMTS18,upstream_gene_variant,,ENST00000568393,;	.	97	103	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77401346	77401346	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs891093965	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	83	0	ENST00000282849.5:c.770G>A	p.Arg257His	p.R257H	ENST00000282849	NM_199355.2	257	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS10926.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGTCGT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167	.	.	ENSP00000282849	.	4/23	.	.	.	.	.	.	.	.	COSM2154155	4/23	PASS	ENST00000282849	Transcript	.	.	ENSG00000140873	17110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.534)	.	deleterious(0.01)	1	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,missense_variant,p.Arg257His,ENST00000282849,;ADAMTS18,missense_variant,p.Arg172His,ENST00000562345,;ADAMTS18,downstream_gene_variant,,ENST00000564369,;ADAMTS18,downstream_gene_variant,,ENST00000567121,;ADAMTS18,missense_variant,p.Arg257His,ENST00000449265,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567914,;ADAMTS18,downstream_gene_variant,,ENST00000569309,;	1189	83	72	SUCCESS
ADAD2	161931	.	GRCh37	16	84227886	84227886	+	intron_variant	Intron	SNP	C	C	A	rs543785215	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	42	0	ENST00000315906.5:c.419-162C>A		p.*140*	ENST00000315906	NM_001145400.1			0	.	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS10944.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCGCGGC	NONE	by1000G	.	.	T:0	.	ENSP00000268624	T:0	.	.	.	.	.	.	.	.	.	rs543785215	.	PASS	ENST00000268624	Transcript	.	T:0.0002	ENSG00000140955	30714	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,intron_variant,,ENST00000315906,;ADAD2,intron_variant,,ENST00000567685,;ADAD2,intron_variant,,ENST00000268624,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000561900,;RP11-486L19.2,downstream_gene_variant,,ENST00000569834,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,intron_variant,,ENST00000569221,;ADAD2,intron_variant,,ENST00000566526,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,upstream_gene_variant,,ENST00000564169,;	.	42	44	SUCCESS
MYH3	4621	.	GRCh37	17	10534941	10534941	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	116	0	ENST00000583535.1:c.5273A>G	p.Lys1758Arg	p.K1758R	ENST00000583535	NM_002470.3	1758	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS11157.1	5273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTTCTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000464317	.	36/41	.	.	.	.	.	.	.	.	.	36/41	PASS	ENST00000583535	Transcript	.	.	ENSG00000109063	7573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.02)	.	MYH3_HUMAN	MYH3	HGNC	.	.	UPI000013C892	SNV	MYH3,missense_variant,p.Lys1758Arg,ENST00000583535,;MYH3,missense_variant,p.Lys1758Arg,ENST00000226209,;MYH3,upstream_gene_variant,,ENST00000577963,;MYH3,upstream_gene_variant,,ENST00000579928,;	5361	116	44	SUCCESS
MAP2K4	6416	.	GRCh37	17	12044509	12044509	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771926980	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	74	0	ENST00000353533.5:c.1132G>A	p.Ala378Thr	p.A378T	ENST00000353533	NM_003010.3	378	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11162.1	1132	RADIA|MUTECT|MUSE	.	AGGTCGCATGC	NONE	byFrequency	.	hmmpanther:PTHR24360:SF46,hmmpanther:PTHR24360,Superfamily_domains:SSF56112	.	.	ENSP00000262445	.	11/11	.	.	.	.	.	.	.	.	rs771926980,COSM975568	11/11	PASS	ENST00000353533	Transcript	.	.	ENSG00000065559	6844	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.872)	.	deleterious(0.02)	0,1	MP2K4_HUMAN	MAP2K4	HGNC	J3QQR2_HUMAN,J3KTI6_HUMAN	.	UPI000012F48E	SNV	MAP2K4,missense_variant,p.Ala378Thr,ENST00000353533,;MAP2K4,missense_variant,p.Ala389Thr,ENST00000415385,;MAP2K4,3_prime_UTR_variant,,ENST00000602375,;MAP2K4,3_prime_UTR_variant,,ENST00000602811,;MAP2K4,3_prime_UTR_variant,,ENST00000538465,;MAP2K4,3_prime_UTR_variant,,ENST00000602537,;MAP2K4,3_prime_UTR_variant,,ENST00000602686,;MAP2K4,3_prime_UTR_variant,,ENST00000602305,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000536413,;	1195	74	28	SUCCESS
KRTAP17-1	83902	.	GRCh37	17	39471910	39471910	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	43	0	ENST00000334202.3:c.-8C>A		p.*3*	ENST00000334202	NM_031964.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11387.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGGCCCGT	NONE	.	.	.	.	.	ENSP00000333993	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334202	Transcript	.	.	ENSG00000186860	18917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR171_HUMAN	KRTAP17-1	HGNC	.	.	UPI000006D50E	SNV	KRTAP17-1,5_prime_UTR_variant,,ENST00000334202,;	38	43	32	SUCCESS
PLCD3	113026	.	GRCh37	17	43196348	43196348	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	34	0	ENST00000322765.5:c.747G>T	p.Arg249=	p.R249=	ENST00000322765	NM_133373.3	249	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	.	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCGCCG	NONE	.	.	Superfamily_domains:SSF47473,Pfam_domain:PF14788,Gene3D:1.10.238.10,hmmpanther:PTHR10336:SF33,hmmpanther:PTHR10336,Low_complexity_(Seg):seg	.	.	ENSP00000313731	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000322765	Transcript	.	.	ENSG00000161714	9061	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCD3_HUMAN	PLCD3	HGNC	.	.	UPI00015DFB4E	SNV	PLCD3,synonymous_variant,p.%3D,ENST00000538988,;PLCD3,synonymous_variant,p.%3D,ENST00000322765,;PLCD3,downstream_gene_variant,,ENST00000538093,;PLCD3,downstream_gene_variant,,ENST00000590644,;PLCD3,non_coding_transcript_exon_variant,,ENST00000540511,;PLCD3,downstream_gene_variant,,ENST00000544446,;PLCD3,upstream_gene_variant,,ENST00000543623,;PLCD3,upstream_gene_variant,,ENST00000545702,;PLCD3,non_coding_transcript_exon_variant,,ENST00000546350,;PLCD3,upstream_gene_variant,,ENST00000544333,;PLCD3,upstream_gene_variant,,ENST00000412978,;PLCD3,upstream_gene_variant,,ENST00000542173,;	861	34	35	SUCCESS
TBX21	30009	.	GRCh37	17	45820045	45820045	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	83	0	ENST00000177694.1:c.561G>A	p.Val187=	p.V187=	ENST00000177694	NM_013351.1	187	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11514.1	561	MUTECT|MUSE|VARSCANS	.	TTTGTGGACGT	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF95,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000177694	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000177694	Transcript	.	.	ENSG00000073861	11599	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBX21_HUMAN	TBX21	HGNC	.	.	UPI0000001C88	SNV	TBX21,synonymous_variant,p.%3D,ENST00000177694,;TBX21,non_coding_transcript_exon_variant,,ENST00000581328,;	772	83	47	SUCCESS
ANKFN1	162282	.	GRCh37	17	54559743	54559743	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	183	1	ENST00000318698.2:c.2127G>A	p.Gln709=	p.Q709=	ENST00000318698	NM_153228.2	709	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS32686.1	2127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGGAGGT	NONE	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,synonymous_variant,p.%3D,ENST00000318698,;ANKFN1,synonymous_variant,p.%3D,ENST00000566473,;	2162	185	124	SUCCESS
TBX4	9496	.	GRCh37	17	59560529	59560529	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	98	1	ENST00000240335.1:c.1290C>A	p.Ser430Arg	p.S430R	ENST00000240335	NM_018488.2	430	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS11629.1	1290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGCGTGCA	NONE	.	.	hmmpanther:PTHR11267:SF29,hmmpanther:PTHR11267	.	.	ENSP00000240335	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240335	Transcript	.	.	ENSG00000121075	11603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	deleterious(0)	.	TBX4_HUMAN	TBX4	HGNC	K7EPY2_HUMAN	.	UPI000013CAA9	SNV	TBX4,missense_variant,p.Ser430Arg,ENST00000240335,;TBX4,missense_variant,p.Ser431Arg,ENST00000393853,;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,non_coding_transcript_exon_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000586874,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,downstream_gene_variant,,ENST00000590174,;	1335	99	71	SUCCESS
EVPL	2125	.	GRCh37	17	74014602	74014602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	100	0	ENST00000301607.3:c.1364G>T	p.Gly455Val	p.G455V	ENST00000301607	NM_001988.2	455	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11737.1	1364	RADIA|MUTECT|MUSE	.	TCTCCCCGCCA	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Gly455Val,ENST00000586740,;EVPL,missense_variant,p.Gly455Val,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	1618	100	100	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	80	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	80	43	SUCCESS
DNAH2	146754	.	GRCh37	17	7721980	7721980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	45	0	ENST00000389173.2:c.10556T>C	p.Leu3519Pro	p.L3519P	ENST00000389173	NM_020877.2	3519	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS32551.1	10556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGGGCA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12781	.	.	ENSP00000458355	.	70/86	.	.	.	.	.	.	.	.	.	70/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Leu3519Pro,ENST00000389173,;DNAH2,missense_variant,p.Leu3519Pro,ENST00000572933,;DNAH2,missense_variant,p.Leu468Pro,ENST00000575105,;	12016	45	23	SUCCESS
RNF213	57674	.	GRCh37	17	78237406	78237406	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	59	0	ENST00000582970.1:c.-75A>G		p.*25*	ENST00000582970	NM_001256071.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58606.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGACATGT	NONE	.	.	.	.	.	ENSP00000464087	.	2/68	.	.	.	.	.	.	.	.	.	2/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,5_prime_UTR_variant,,ENST00000582970,;RNF213,5_prime_UTR_variant,,ENST00000319921,;RNF213,5_prime_UTR_variant,,ENST00000456466,;RNF213,5_prime_UTR_variant,,ENST00000508628,;	69	59	61	SUCCESS
DUS1L	64118	.	GRCh37	17	80019565	80019565	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	75	0	ENST00000306796.5:c.626G>A	p.Gly209Glu	p.G209E	ENST00000306796	NM_022156.4	209	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS32775.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCCGTTA	NONE	.	.	hmmpanther:PTHR11082:SF5,hmmpanther:PTHR11082,Pfam_domain:PF01207,Gene3D:3.20.20.70,Superfamily_domains:SSF51395	.	.	ENSP00000346280	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000354321	Transcript	.	.	ENSG00000169718	30086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DUS1L_HUMAN	DUS1L	HGNC	J3QLE4_HUMAN	.	UPI00002004B5	SNV	DUS1L,missense_variant,p.Gly77Glu,ENST00000538833,;DUS1L,missense_variant,p.Gly209Glu,ENST00000578907,;DUS1L,missense_variant,p.Gly192Glu,ENST00000578176,;DUS1L,missense_variant,p.Gly209Glu,ENST00000354321,;DUS1L,missense_variant,p.Gly209Glu,ENST00000306796,;DUS1L,missense_variant,p.Gly209Glu,ENST00000582529,;DUS1L,upstream_gene_variant,,ENST00000542088,;GPS1,downstream_gene_variant,,ENST00000355130,;GPS1,downstream_gene_variant,,ENST00000578168,;GPS1,downstream_gene_variant,,ENST00000306823,;GPS1,downstream_gene_variant,,ENST00000392358,;GPS1,downstream_gene_variant,,ENST00000578552,;GPS1,downstream_gene_variant,,ENST00000320548,;DUS1L,upstream_gene_variant,,ENST00000577574,;DUS1L,downstream_gene_variant,,ENST00000577907,;DUS1L,missense_variant,p.Gly3Glu,ENST00000580731,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578846,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578264,;GPS1,downstream_gene_variant,,ENST00000583486,;GPS1,downstream_gene_variant,,ENST00000392357,;GPS1,downstream_gene_variant,,ENST00000584460,;GPS1,downstream_gene_variant,,ENST00000578279,;DUS1L,upstream_gene_variant,,ENST00000582407,;DUS1L,upstream_gene_variant,,ENST00000584871,;DUS1L,upstream_gene_variant,,ENST00000579854,;DUS1L,upstream_gene_variant,,ENST00000578428,;	1112	75	45	SUCCESS
CDH20	28316	.	GRCh37	18	59217241	59217241	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373889945	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	87	0	ENST00000262717.4:c.1679C>A	p.Ser560Tyr	p.S560Y	ENST00000262717		560	tCt/tAt	0	G:0	.	.	.	.	A	S/Y	protein_coding	YES	CCDS11977.1	1679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCTGGTT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	G:0.0001	ENSP00000262717	.	11/12	.	.	.	.	.	.	.	.	rs373889945	11/12	PASS	ENST00000262717	Transcript	.	.	ENSG00000101542	1760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	tolerated(0.06)	.	CAD20_HUMAN	CDH20	HGNC	Q8N9J3_HUMAN,K7ESP2_HUMAN	.	UPI000013D30D	SNV	CDH20,missense_variant,p.Ser560Tyr,ENST00000538374,;CDH20,missense_variant,p.Ser560Tyr,ENST00000536675,;CDH20,missense_variant,p.Ser560Tyr,ENST00000262717,;CDH20,5_prime_UTR_variant,,ENST00000587582,;	2077	87	106	SUCCESS
SOCS6	9306	.	GRCh37	18	67992706	67992706	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	88	161	1	ENST00000397942.3:c.802C>T	p.Gln268Ter	p.Q268*	ENST00000397942	NM_004232.3	268	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11998.1	802	RADIA|SOMATICSNIPER|VARSCANS	.	AGAGTCAGGTA	NONE	.	.	hmmpanther:PTHR10385:SF25,hmmpanther:PTHR10385	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,stop_gained,p.Gln268Ter,ENST00000397942,;SOCS6,stop_gained,p.Gln268Ter,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	1118	162	154	SUCCESS
CDC37	11140	.	GRCh37	19	10514176	10514176	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs766721158	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	32	0	ENST00000222005.2:c.-21G>T		p.*7*	ENST00000222005	NM_007065.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12237.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCGCTCC	NONE	byFrequency	.	.	.	.	ENSP00000222005	.	1/8	.	.	.	.	.	.	.	.	rs766721158	1/8	PASS	ENST00000222005	Transcript	.	.	ENSG00000105401	1735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDC37_HUMAN	CDC37	HGNC	.	.	UPI000012723D	SNV	CDC37,5_prime_UTR_variant,,ENST00000589629,;CDC37,5_prime_UTR_variant,,ENST00000222005,;CDC37,5_prime_UTR_variant,,ENST00000593124,;MIR1181,non_coding_transcript_exon_variant,,ENST00000408639,;CDC37,5_prime_UTR_variant,,ENST00000588869,;CDC37,non_coding_transcript_exon_variant,,ENST00000591248,;	34	32	34	SUCCESS
FAM129C	0	.	GRCh37	19	17657556	17657556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	40	0	ENST00000335393.4:c.1709G>T	p.Gly570Val	p.G570V	ENST00000335393	NM_173544.4	570	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12362.1	1709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGCATCT	NONE	.	.	hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4	.	.	ENSP00000335040	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000335393	Transcript	.	.	ENSG00000167483	24130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	NIBL2_HUMAN	FAM129C	HGNC	M0R0E0_HUMAN,B4DNU3_HUMAN	.	UPI0000246FFF	SNV	FAM129C,missense_variant,p.Gly539Val,ENST00000599164,;FAM129C,missense_variant,p.Gly570Val,ENST00000335393,;FAM129C,missense_variant,p.Gly570Val,ENST00000332386,;FAM129C,missense_variant,p.Gly516Val,ENST00000600871,;FAM129C,missense_variant,p.Gly539Val,ENST00000601861,;FAM129C,missense_variant,p.Gly503Val,ENST00000599124,;FAM129C,missense_variant,p.Gly296Val,ENST00000449408,;FAM129C,missense_variant,p.Gly570Val,ENST00000595684,;FAM129C,missense_variant,p.Gly534Val,ENST00000352727,;FAM129C,downstream_gene_variant,,ENST00000300971,;FAM129C,3_prime_UTR_variant,,ENST00000600519,;FAM129C,downstream_gene_variant,,ENST00000595601,;	1847	40	39	SUCCESS
ANKRD27	84079	.	GRCh37	19	33096767	33096767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	271	150	0	ENST00000306065.4:c.2467C>T	p.His823Tyr	p.H823Y	ENST00000306065	NM_032139.2	823	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS32986.1	2467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGATGGC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000304292	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000306065	Transcript	.	.	ENSG00000105186	25310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.415)	.	tolerated(1)	.	ANR27_HUMAN	ANKRD27	HGNC	K7EPM2_HUMAN,K7EIN0_HUMAN,K7EIH4_HUMAN	.	UPI000004FDE9	SNV	ANKRD27,missense_variant,p.His823Tyr,ENST00000306065,;SNORA68,downstream_gene_variant,,ENST00000364518,;	2626	150	424	SUCCESS
KMT2B	9757	.	GRCh37	19	36222992	36222992	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	42	67	0	ENST00000222270.7:c.5621G>T	p.Arg1874Leu	p.R1874L	ENST00000222270	NM_014727.1	1874	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS46055.1	5621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGGAGGC	NONE	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	27/37	.	.	.	.	.	.	.	.	.	27/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Arg1874Leu,ENST00000420124,;KMT2B,missense_variant,p.Arg1874Leu,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	5621	67	198	SUCCESS
ZNF829	374899	.	GRCh37	19	37383281	37383281	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	14	36	0	ENST00000391711.3:c.412del	p.Ile138PhefsTer13	p.I138Ffs*13	ENST00000391711	NM_001037232.3	138	Att/tt	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS59380.1	655	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGAATAAAAG	NONE	.	.	hmmpanther:PTHR24377,Superfamily_domains:SSF57667	.	.	ENSP00000428679	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000520965	Transcript	.	.	ENSG00000185869	34032	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF829	HGNC	.	.	UPI00002021CD	deletion	ZNF829,frameshift_variant,p.Ile219PhefsTer13,ENST00000520965,;ZNF829,frameshift_variant,p.Ile138PhefsTer13,ENST00000391711,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000534729,;ZNF345,intron_variant,,ENST00000529989,;	722	36	99	SUCCESS
ZNF585B	92285	.	GRCh37	19	37676675	37676675	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	294	85	157	1	ENST00000532828.2:c.1764C>T	p.Ile588=	p.I588=	ENST00000532828	NM_152279.3	588	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12500.1	1764	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCGGATGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000433773	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000532828	Transcript	.	.	ENSG00000245680	30948	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,synonymous_variant,p.%3D,ENST00000312908,;ZNF585B,synonymous_variant,p.%3D,ENST00000531805,;ZNF585B,synonymous_variant,p.%3D,ENST00000532828,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,downstream_gene_variant,,ENST00000591492,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	2016	158	379	SUCCESS
MAP4K1	11184	.	GRCh37	19	39105049	39105049	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	20	60	0	ENST00000591517.1:c.350T>C	p.Val117Ala	p.V117A	ENST00000591517	NM_007181.4	117	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS59385.1	350	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGACATAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	.	.	ENSP00000465039	.	5/32	.	.	.	.	.	.	.	.	.	5/32	PASS	ENST00000591517	Transcript	.	.	ENSG00000104814	6863	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.433)	.	deleterious(0)	.	M4K1_HUMAN	MAP4K1	HGNC	.	.	UPI00000747ED	SNV	MAP4K1,missense_variant,p.Val117Ala,ENST00000396857,;MAP4K1,missense_variant,p.Val113Ala,ENST00000589130,;MAP4K1,missense_variant,p.Val117Ala,ENST00000591517,;MAP4K1,missense_variant,p.Val117Ala,ENST00000586296,;EIF3K,upstream_gene_variant,,ENST00000586513,;EIF3K,upstream_gene_variant,,ENST00000545173,;EIF3K,upstream_gene_variant,,ENST00000538434,;EIF3K,upstream_gene_variant,,ENST00000592558,;EIF3K,upstream_gene_variant,,ENST00000593149,;MAP4K1,upstream_gene_variant,,ENST00000423454,;EIF3K,upstream_gene_variant,,ENST00000591409,;EIF3K,upstream_gene_variant,,ENST00000589307,;EIF3K,upstream_gene_variant,,ENST00000588934,;MAP4K1,upstream_gene_variant,,ENST00000591921,;EIF3K,upstream_gene_variant,,ENST00000248342,;MAP4K1,upstream_gene_variant,,ENST00000589002,;EIF3K,upstream_gene_variant,,ENST00000593062,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000588083,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000592888,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000591707,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000592225,;EIF3K,upstream_gene_variant,,ENST00000586932,;EIF3K,upstream_gene_variant,,ENST00000588422,;MAP4K1,upstream_gene_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000587300,;	379	60	195	SUCCESS
CCDC97	90324	.	GRCh37	19	41822393	41822393	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	64	131	1	ENST00000269967.3:c.151C>T	p.Leu51=	p.L51=	ENST00000269967	NM_052848.1	51	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12578.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCTGGAC	NONE	.	.	hmmpanther:PTHR31840	.	.	ENSP00000269967	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000269967	Transcript	.	.	ENSG00000142039	28289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD97_HUMAN	CCDC97	HGNC	.	.	UPI000007279F	SNV	CCDC97,synonymous_variant,p.%3D,ENST00000269967,;CCDC97,5_prime_UTR_variant,,ENST00000596882,;TGFB1,intron_variant,,ENST00000598758,;CCDC97,upstream_gene_variant,,ENST00000600918,;	273	132	92	SUCCESS
ATP1A3	478	.	GRCh37	19	42492257	42492257	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	46	89	0	ENST00000302102.5:c.188C>A	p.Ala63Asp	p.A63D	ENST00000302102	NM_152296.4	63	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS58664.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGCCAGG	NONE	.	.	Superfamily_domains:0049473,SMART_domains:SM00831,Gene3D:2.70.150.10,Pfam_domain:PF00690,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093:SF259,hmmpanther:PTHR24093	.	.	ENSP00000444688	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.43)	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,missense_variant,p.Ala33Asp,ENST00000602133,;ATP1A3,missense_variant,p.Ala74Asp,ENST00000543770,;ATP1A3,missense_variant,p.Ala76Asp,ENST00000545399,;ATP1A3,missense_variant,p.Ala33Asp,ENST00000473086,;ATP1A3,missense_variant,p.Ala63Asp,ENST00000302102,;ATP1A3,non_coding_transcript_exon_variant,,ENST00000468774,;ATP1A3,downstream_gene_variant,,ENST00000465007,;ATP1A3,missense_variant,p.Ala63Asp,ENST00000441343,;ATP1A3,upstream_gene_variant,,ENST00000485672,;	381	89	59	SUCCESS
PSG10P	653492	.	GRCh37	19	43349214	43349214	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	17	39	0	ENST00000501199.4:n.1197C>A		p.*399*	ENST00000501199				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCGGTCCCG	NONE	.	.	.	.	.	.	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000501199	Transcript	.	.	ENSG00000248257	9515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PSG10P	HGNC	.	.	.	SNV	PSG8,intron_variant,,ENST00000401467,;PSG10P,non_coding_transcript_exon_variant,,ENST00000597171,;PSG10P,non_coding_transcript_exon_variant,,ENST00000501199,;	1197	39	107	SUCCESS
CLASRP	11129	.	GRCh37	19	45559788	45559788	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	299	11	53	0	ENST00000221455.3:c.460A>G	p.Lys154Glu	p.K154E	ENST00000221455	NM_007056.2	154	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12652.2	460	MUTECT|MUSE	.	AGAAGAAGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4,Pfam_domain:PF09750	.	.	ENSP00000221455	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000221455	Transcript	.	.	ENSG00000104859	17731	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.781)	.	tolerated(0.08)	.	CLASR_HUMAN	CLASRP	HGNC	K7EKC9_HUMAN	.	UPI000020262D	SNV	CLASRP,missense_variant,p.Lys92Glu,ENST00000391953,;CLASRP,missense_variant,p.Lys154Glu,ENST00000221455,;CLASRP,missense_variant,p.Lys154Glu,ENST00000544944,;CLASRP,downstream_gene_variant,,ENST00000588936,;CLASRP,missense_variant,p.Lys154Glu,ENST00000391952,;CLASRP,missense_variant,p.Lys135Glu,ENST00000587112,;CLASRP,synonymous_variant,p.%3D,ENST00000591410,;CLASRP,non_coding_transcript_exon_variant,,ENST00000588016,;CLASRP,downstream_gene_variant,,ENST00000592056,;	558	53	310	SUCCESS
TRAPPC6A	79090	.	GRCh37	19	45668132	45668132	+	synonymous_variant	Silent	SNP	G	G	A	rs765292103	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	418	13	86	0	ENST00000585934.1:c.249C>T	p.Asp83=	p.D83=	ENST00000585934	NM_001270891.1	83	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS12655.1	291	MUTECT|MUSE	.	AGGCTGTCCAT	NONE	.	.	Superfamily_domains:SSF111126,Gene3D:3.30.1380.20,Pfam_domain:PF04051,hmmpanther:PTHR12817,hmmpanther:PTHR12817:SF2	.	.	ENSP00000006275	.	3/6	.	.	.	.	.	.	.	.	rs765292103	3/6	PASS	ENST00000006275	Transcript	.	.	ENSG00000007255	23069	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPC6A_HUMAN	TRAPPC6A	HGNC	.	.	UPI0000052E20	SNV	TRAPPC6A,stop_gained,p.Gln61Ter,ENST00000588062,;TRAPPC6A,stop_gained,p.Gln75Ter,ENST00000592647,;TRAPPC6A,synonymous_variant,p.%3D,ENST00000585934,;TRAPPC6A,synonymous_variant,p.%3D,ENST00000006275,;MARK4,intron_variant,,ENST00000587566,;NKPD1,upstream_gene_variant,,ENST00000317951,;TRAPPC6A,non_coding_transcript_exon_variant,,ENST00000587818,;	310	86	431	SUCCESS
HIF3A	64344	.	GRCh37	19	46825090	46825090	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781513922	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	61	81	0	ENST00000377670.4:c.1202C>A	p.Ala401Asp	p.A401D	ENST00000377670	NM_152795.3	401	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS12681.2	1202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCCTGG	NONE	byFrequency	.	hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043	.	.	ENSP00000366898	.	10/15	.	.	.	.	.	.	.	.	rs781513922	10/15	PASS	ENST00000377670	Transcript	.	.	ENSG00000124440	15825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.27)	.	HIF3A_HUMAN	HIF3A	HGNC	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN	.	UPI00002026E2	SNV	HIF3A,missense_variant,p.Ala350Asp,ENST00000420102,;HIF3A,missense_variant,p.Ala332Asp,ENST00000472815,;HIF3A,missense_variant,p.Ala401Asp,ENST00000377670,;HIF3A,missense_variant,p.Ala399Asp,ENST00000300862,;HIF3A,missense_variant,p.Ala332Asp,ENST00000600383,;HIF3A,missense_variant,p.Ala332Asp,ENST00000244303,;HIF3A,missense_variant,p.Ala345Asp,ENST00000339613,;AC007193.10,intron_variant,,ENST00000596807,;HIF3A,3_prime_UTR_variant,,ENST00000528563,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529542,;HIF3A,non_coding_transcript_exon_variant,,ENST00000600236,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;	1233	81	106	SUCCESS
ARHGAP35	2909	.	GRCh37	19	47424838	47424838	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs780593260	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	65	106	0	ENST00000404338.3:c.2906A>T	p.Asn969Ile	p.N969I	ENST00000404338	NM_004491.4	969	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS46127.1	2906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTAACTCCC	NONE	byFrequency	.	hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26	.	.	ENSP00000385720	.	1/6	.	.	.	.	.	.	.	.	rs780593260	1/6	PASS	ENST00000404338	Transcript	.	.	ENSG00000160007	4591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.147)	.	tolerated(0.14)	.	RHG35_HUMAN	ARHGAP35	HGNC	.	.	UPI0000163F71	SNV	ARHGAP35,missense_variant,p.Asn969Ile,ENST00000404338,;	2906	106	122	SUCCESS
FAM83E	54854	.	GRCh37	19	49104612	49104612	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	34	135	0	ENST00000263266.3:c.1191G>T	p.Trp397Cys	p.W397C	ENST00000263266	NM_017708.3	397	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS42587.1	1191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCCAGGA	NONE	.	.	hmmpanther:PTHR16181:SF6,hmmpanther:PTHR16181	.	.	ENSP00000263266	.	5/5	.	.	.	.	.	.	.	.	COSM999030	5/5	PASS	ENST00000263266	Transcript	.	.	ENSG00000105523	25972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.867)	.	deleterious(0)	1	FA83E_HUMAN	FAM83E	HGNC	M0QZ37_HUMAN	.	UPI000013D3D9	SNV	FAM83E,missense_variant,p.Trp397Cys,ENST00000263266,;SULT2B1,downstream_gene_variant,,ENST00000323090,;SULT2B1,downstream_gene_variant,,ENST00000201586,;SULT2B1,downstream_gene_variant,,ENST00000594274,;SULT2B1,downstream_gene_variant,,ENST00000597923,;	1381	135	159	SUCCESS
FAM83E	54854	.	GRCh37	19	49104613	49104613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	34	136	0	ENST00000263266.3:c.1190G>T	p.Trp397Leu	p.W397L	ENST00000263266	NM_017708.3	397	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS42587.1	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCAGGAT	NONE	.	.	hmmpanther:PTHR16181:SF6,hmmpanther:PTHR16181	.	.	ENSP00000263266	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000263266	Transcript	.	.	ENSG00000105523	25972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.448)	.	deleterious(0)	.	FA83E_HUMAN	FAM83E	HGNC	M0QZ37_HUMAN	.	UPI000013D3D9	SNV	FAM83E,missense_variant,p.Trp397Leu,ENST00000263266,;SULT2B1,downstream_gene_variant,,ENST00000323090,;SULT2B1,downstream_gene_variant,,ENST00000201586,;SULT2B1,downstream_gene_variant,,ENST00000594274,;SULT2B1,downstream_gene_variant,,ENST00000597923,;	1380	136	160	SUCCESS
CPT1C	126129	.	GRCh37	19	50200664	50200664	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201792786	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	20	91	0	ENST00000323446.5:c.223C>A	p.Leu75Ile	p.L75I	ENST00000323446	NM_152359.2	75	Ctc/Atc	0	.	T:0	.	T:0	.	A	L/I	protein_coding	YES	CCDS12779.1	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCTCCAG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55	T:0.001	.	ENSP00000376303	T:0	4/20	.	.	.	.	.	.	.	.	rs201792786	4/20	PASS	ENST00000392518	Transcript	.	T:0.0002	ENSG00000169169	18540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	T:0	tolerated(0.31)	.	CPT1C_HUMAN	CPT1C	HGNC	M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN	.	UPI0000071C78	SNV	CPT1C,missense_variant,p.Leu75Ile,ENST00000602019,;CPT1C,missense_variant,p.Leu75Ile,ENST00000598293,;CPT1C,missense_variant,p.Leu75Ile,ENST00000323446,;CPT1C,missense_variant,p.Leu75Ile,ENST00000595969,;CPT1C,missense_variant,p.Leu75Ile,ENST00000594587,;CPT1C,missense_variant,p.Leu75Ile,ENST00000392518,;CPT1C,missense_variant,p.Leu75Ile,ENST00000354199,;CPT1C,missense_variant,p.Leu75Ile,ENST00000598396,;CPT1C,missense_variant,p.Leu75Ile,ENST00000405931,;CPT1C,downstream_gene_variant,,ENST00000598714,;CPT1C,missense_variant,p.Pro55His,ENST00000595568,;CPT1C,3_prime_UTR_variant,,ENST00000596922,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599023,;CPT1C,non_coding_transcript_exon_variant,,ENST00000295404,;CPT1C,non_coding_transcript_exon_variant,,ENST00000600944,;CPT1C,upstream_gene_variant,,ENST00000596701,;CPT1C,downstream_gene_variant,,ENST00000594038,;	595	92	117	SUCCESS
ZNF28	7576	.	GRCh37	19	53302982	53302982	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	38	71	0	ENST00000457749.2:c.2116C>G	p.Leu706Val	p.L706V	ENST00000457749	NM_006969.3	706	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS33093.2	2116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAGGTTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	deleterious(0)	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,missense_variant,p.Leu653Val,ENST00000360272,;ZNF28,missense_variant,p.Leu706Val,ENST00000457749,;ZNF28,missense_variant,p.Leu653Val,ENST00000414252,;ZNF28,missense_variant,p.Leu653Val,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;	2236	71	67	SUCCESS
ZNF677	342926	.	GRCh37	19	53740851	53740851	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	22	115	0	ENST00000333952.4:c.1129T>C	p.Cys377Arg	p.C377R	ENST00000333952		377	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS12861.1	1129	RADIA|MUTECT|MUSE	.	ATTACATTTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000334394	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,missense_variant,p.Cys377Arg,ENST00000598513,;ZNF677,missense_variant,p.Cys377Arg,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000594517,;ZNF677,downstream_gene_variant,,ENST00000598806,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000593539,;ZNF677,downstream_gene_variant,,ENST00000599328,;	1295	115	110	SUCCESS
ZNF524	147807	.	GRCh37	19	56114232	56114234	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-	rs778871635	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	GAG	GAG	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	37	0	ENST00000301073.3:c.766_768del	p.Glu256del	p.E256del	ENST00000301073	NM_153219.2	252	GAG/-	0	.	.	.	.	.	-	E/-	protein_coding	YES	CCDS12929.1	754-756	INDELOCATOR|VARSCANI	.	GGGGCCGAGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF111,hmmpanther:PTHR23228	.	.	ENSP00000466907	.	1/1	.	.	.	.	.	.	.	.	rs778871635	1/1	common_in_exac	ENST00000591046	Transcript	.	.	ENSG00000171443	28322	12	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN524_HUMAN	ZNF524	HGNC	K7EP10_HUMAN	.	UPI00000735DD	deletion	ZNF524,inframe_deletion,p.Glu256del,ENST00000591046,;ZNF524,inframe_deletion,p.Glu256del,ENST00000301073,;ZNF865,upstream_gene_variant,,ENST00000568956,;FIZ1,upstream_gene_variant,,ENST00000592585,;FIZ1,upstream_gene_variant,,ENST00000221665,;ZNF524,downstream_gene_variant,,ENST00000589521,;FIZ1,upstream_gene_variant,,ENST00000590714,;FIZ1,upstream_gene_variant,,ENST00000587414,;	988-990	37	43	SUCCESS
NLRP5	126206	.	GRCh37	19	56539232	56539232	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775936118	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	58	111	1	ENST00000390649.3:c.1633G>T	p.Val545Leu	p.V545L	ENST00000390649	NM_153447.4	545	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS12938.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAGTGTTT	NONE	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106	.	.	ENSP00000375063	.	7/15	.	.	.	.	.	.	.	.	rs775936118	7/15	PASS	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious(0.02)	.	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,missense_variant,p.Val545Leu,ENST00000390649,;	1633	112	109	SUCCESS
ZNF71	58491	.	GRCh37	19	57133835	57133835	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775699384	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	50	0	ENST00000328070.6:c.1180C>A	p.Arg394Ser	p.R394S	ENST00000328070	NM_021216.4	394	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12947.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCGCTCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	rs775699384,COSM1129699	3/3	PASS	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.982)	.	tolerated(0.67)	0,1	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,missense_variant,p.Arg394Ser,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	1414	50	52	SUCCESS
MYO1F	4542	.	GRCh37	19	8619381	8619395	+	inframe_deletion	In_Frame_Del	DEL	CTCACAGTCGATAAG	CTCACAGTCGATAAG	-	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	CTCACAGTCGATAAG	CTCACAGTCGATAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	48	0	ENST00000338257.8:c.292_306del	p.Leu98_Glu102del	p.L98_E102del	ENST00000338257	NM_012335.3	98	CTTATCGACTGTGAG/-	0	.	.	.	.	.	-	LIDCE/-	protein_coding	YES	CCDS42494.1	292-306	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGTTCTCACAGTCGATAAGCATGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,Gene3D:3.40.50.300,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,PROSITE_profiles:PS51456	.	.	ENSP00000344871	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000338257	Transcript	.	.	ENSG00000142347	7600	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO1F_HUMAN	MYO1F	HGNC	Q14779_HUMAN,M0QXU2_HUMAN	.	UPI00001678F0	deletion	MYO1F,inframe_deletion,p.Leu94_Glu98del,ENST00000596675,;MYO1F,inframe_deletion,p.Leu98_Glu102del,ENST00000338257,;AC092316.1,downstream_gene_variant,,ENST00000598703,;MYO1F,3_prime_UTR_variant,,ENST00000598321,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594774,;MYO1F,non_coding_transcript_exon_variant,,ENST00000595325,;MYO1F,non_coding_transcript_exon_variant,,ENST00000598529,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594977,;MYO1F,non_coding_transcript_exon_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000600825,;MYO1F,downstream_gene_variant,,ENST00000596645,;MYO1F,upstream_gene_variant,,ENST00000596937,;MYO1F,upstream_gene_variant,,ENST00000595191,;	560-574	48	42	SUCCESS
FBXL12	54850	.	GRCh37	19	9929493	9929493	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	104	154	0	ENST00000247977.4:c.-4G>T		p.*2*	ENST00000247977	NM_017703.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12218.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCCCGCC	NONE	.	.	.	.	.	ENSP00000247977	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000247977	Transcript	.	.	ENSG00000127452	13611	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL12_HUMAN	FBXL12	HGNC	K7EPN7_HUMAN,K7ELM5_HUMAN	.	UPI000006EBD0	SNV	FBXL12,5_prime_UTR_variant,,ENST00000586073,;FBXL12,5_prime_UTR_variant,,ENST00000588922,;FBXL12,5_prime_UTR_variant,,ENST00000586469,;FBXL12,5_prime_UTR_variant,,ENST00000592067,;FBXL12,5_prime_UTR_variant,,ENST00000589626,;FBXL12,5_prime_UTR_variant,,ENST00000247977,;FBXL12,5_prime_UTR_variant,,ENST00000586651,;FBXL12,intron_variant,,ENST00000590277,;FBXL12,intron_variant,,ENST00000585379,;SNORA70,upstream_gene_variant,,ENST00000363367,;AC008752.1,upstream_gene_variant,,ENST00000401283,;FBXL12,upstream_gene_variant,,ENST00000590808,;FBXL12,upstream_gene_variant,,ENST00000592732,;FBXL12,upstream_gene_variant,,ENST00000589438,;RPL10P15,upstream_gene_variant,,ENST00000585756,;	239	154	237	SUCCESS
CELSR2	1952	.	GRCh37	1	109810616	109810616	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	40	0	ENST00000271332.3:c.6252G>T	p.Leu2084=	p.L2084=	ENST00000271332	NM_001408.2	2084	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS796.1	6252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTGCTGGC	NONE	.	.	hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Pfam_domain:PF12003	.	.	ENSP00000271332	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,synonymous_variant,p.%3D,ENST00000271332,;CELSR2,upstream_gene_variant,,ENST00000489018,;CELSR2,upstream_gene_variant,,ENST00000498157,;CELSR2,downstream_gene_variant,,ENST00000459940,;	6313	40	30	SUCCESS
SORT1	6272	.	GRCh37	1	109883462	109883462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	75	229	1	ENST00000256637.6:c.1148G>T	p.Gly383Val	p.G383V	ENST00000256637	NM_002959.5	383	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS798.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCCTCGA	NONE	.	.	hmmpanther:PTHR12106:SF23,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000256637	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000256637	Transcript	.	.	ENSG00000134243	11186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SORT_HUMAN	SORT1	HGNC	.	.	UPI0000074182	SNV	SORT1,missense_variant,p.Gly246Val,ENST00000538502,;SORT1,missense_variant,p.Gly383Val,ENST00000256637,;SORT1,upstream_gene_variant,,ENST00000466471,;	1207	230	235	SUCCESS
PRAMEF17	391004	.	GRCh37	1	13716967	13716967	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	73	164	0	ENST00000376098.4:c.454G>T	p.Asp152Tyr	p.D152Y	ENST00000376098	NM_001099851.1	152	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS41264.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATAGACCTC	NONE	.	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224	.	.	ENSP00000365266	.	2/3	.	.	.	.	.	.	.	.	COSM1497907	2/3	PASS	ENST00000376098	Transcript	.	.	ENSG00000204479	29485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.939)	.	deleterious(0)	1	PRA17_HUMAN	PRAMEF17	HGNC	.	.	UPI0000458AD3	SNV	PRAMEF17,missense_variant,p.Asp152Tyr,ENST00000376098,;	480	164	159	SUCCESS
APH1A	51107	.	GRCh37	1	150238607	150238607	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	133	298	0	ENST00000369109.3:c.734-13T>C		p.*245*	ENST00000369109	NM_001077628.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41390.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAAGGGAG	NONE	.	.	.	.	.	ENSP00000358105	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369109	Transcript	.	.	ENSG00000117362	29509	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APH1A_HUMAN	APH1A	HGNC	.	.	UPI0000073CA3	SNV	APH1A,3_prime_UTR_variant,,ENST00000360244,;APH1A,intron_variant,,ENST00000414276,;APH1A,intron_variant,,ENST00000369109,;APH1A,downstream_gene_variant,,ENST00000236017,;CA14,downstream_gene_variant,,ENST00000607082,;C1orf54,upstream_gene_variant,,ENST00000369102,;CA14,downstream_gene_variant,,ENST00000369111,;snoU13,downstream_gene_variant,,ENST00000458929,;APH1A,downstream_gene_variant,,ENST00000493092,;APH1A,downstream_gene_variant,,ENST00000461320,;APH1A,downstream_gene_variant,,ENST00000486308,;APH1A,downstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000486720,;CA14,downstream_gene_variant,,ENST00000607751,;CA14,downstream_gene_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000483993,;	.	298	295	SUCCESS
FLG	2312	.	GRCh37	1	152280060	152280060	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749473643	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	43	138	0	ENST00000368799.1:c.7302C>A	p.Ser2434Arg	p.S2434R	ENST00000368799	NM_002016.1	2434	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS30860.1	7302	RADIA|MUTECT|MUSE	.	CCAGTGCTGGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs749473643	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.93)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser2434Arg,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7338	138	142	SUCCESS
COPA	1314	.	GRCh37	1	160313152	160313152	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	50	0	ENST00000241704.7:c.-192C>A		p.*64*	ENST00000241704	NM_004371.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1203.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCCGAA	NONE	.	.	.	.	.	ENSP00000294785	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000294785	Transcript	.	.	ENSG00000162736	17091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NICA_HUMAN	NCSTN	HGNC	E7ENA9_HUMAN	.	UPI0000042050	SNV	NCSTN,5_prime_UTR_variant,,ENST00000294785,;NCSTN,5_prime_UTR_variant,,ENST00000437169,;NCSTN,5_prime_UTR_variant,,ENST00000368063,;COPA,5_prime_UTR_variant,,ENST00000241704,;NCSTN,upstream_gene_variant,,ENST00000535857,;COPA,upstream_gene_variant,,ENST00000368069,;NCSTN,upstream_gene_variant,,ENST00000421914,;NCSTN,upstream_gene_variant,,ENST00000392212,;NCSTN,upstream_gene_variant,,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000491332,;NCSTN,upstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000465223,;COPA,upstream_gene_variant,,ENST00000545266,;COPA,upstream_gene_variant,,ENST00000541366,;	91	50	53	SUCCESS
SLAMF1	6504	.	GRCh37	1	160616916	160616916	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	31	0	ENST00000302035.6:c.-181C>T		p.*61*	ENST00000302035	NM_003037.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1207.1	.	MUTECT|MUSE	.	GGATTGCTCAT	NONE	.	.	.	.	.	ENSP00000306190	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,5_prime_UTR_variant,,ENST00000235739,;SLAMF1,5_prime_UTR_variant,,ENST00000355199,;SLAMF1,5_prime_UTR_variant,,ENST00000302035,;SLAMF1,upstream_gene_variant,,ENST00000538290,;SLAMF1,upstream_gene_variant,,ENST00000494463,;	170	31	45	SUCCESS
CACNA1S	779	.	GRCh37	1	201021743	201021743	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1195586602	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	108	0	ENST00000362061.3:c.3895C>A	p.Gln1299Lys	p.Q1299K	ENST00000362061	NM_000069.2	1299	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1407.1	3895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTGGGTCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	32/44	.	.	.	.	.	.	.	.	.	32/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	deleterious(0.01)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Gln1280Lys,ENST00000367338,;CACNA1S,missense_variant,p.Gln1299Lys,ENST00000362061,;	4122	108	105	SUCCESS
TATDN3	128387	.	GRCh37	1	212965299	212965315	+	frameshift_variant	Frame_Shift_Del	DEL	CTGCCACCTCTCCGCCC	CTGCCACCTCTCCGCCC	-	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	CTGCCACCTCTCCGCCC	CTGCCACCTCTCCGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	103	39	153	0	ENST00000366974.4:c.37_53del	p.Cys13GlyfsTer3	p.C13Gfs*3	ENST00000366974	NM_001042553.2	12	caCTGCCACCTCTCCGCCCcg/cacg	0	.	.	.	.	.	-	HCHLSAP/HX	protein_coding	YES	CCDS53475.1	36-52	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTCACTGCCACCTCTCCGCCCCGGAC	NONE	.	.	hmmpanther:PTHR10060,Pfam_domain:PF01026,Gene3D:3.20.20.140,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556	.	.	ENSP00000431376	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000532324	Transcript	.	.	ENSG00000203705	27010	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TATD3_HUMAN	TATDN3	HGNC	.	.	UPI0000205E43	deletion	TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000530441,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000366973,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000531963,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000526997,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000526641,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000488246,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000366974,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000532324,;TATDN3,upstream_gene_variant,,ENST00000530399,;NSL1,upstream_gene_variant,,ENST00000366978,;NSL1,upstream_gene_variant,,ENST00000366977,;NSL1,upstream_gene_variant,,ENST00000422588,;NSL1,upstream_gene_variant,,ENST00000366975,;NSL1,upstream_gene_variant,,ENST00000366976,;NSL1,upstream_gene_variant,,ENST00000473995,;TATDN3,upstream_gene_variant,,ENST00000497768,;NSL1,upstream_gene_variant,,ENST00000487995,;TATDN3,upstream_gene_variant,,ENST00000530392,;TATDN3,upstream_gene_variant,,ENST00000525569,;TATDN3,frameshift_variant,p.Cys12GlyfsTer3,ENST00000525574,;TATDN3,frameshift_variant,p.Cys13GlyfsTer3,ENST00000533650,;TATDN3,non_coding_transcript_exon_variant,,ENST00000532433,;	130-146	153	142	SUCCESS
CELA3B	23436	.	GRCh37	1	22304871	22304871	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	95	0	ENST00000337107.6:c.53A>G	p.Tyr18Cys	p.Y18C	ENST00000337107	NM_007352.2	18	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS219.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTATGGCC	NONE	.	.	hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11	.	.	ENSP00000338369	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000337107	Transcript	.	.	ENSG00000219073	15945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CEL3B_HUMAN	CELA3B	HGNC	.	.	UPI0000156D2F	SNV	CELA3B,missense_variant,p.Tyr18Cys,ENST00000337107,;CELA3B,missense_variant,p.Tyr34Cys,ENST00000374666,;CELA3B,upstream_gene_variant,,ENST00000400277,;RN7SL421P,downstream_gene_variant,,ENST00000582599,;	72	95	96	SUCCESS
TLR5	7100	.	GRCh37	1	223285710	223285710	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	32	103	0	ENST00000366881.1:c.664C>T	p.Pro222Ser	p.P222S	ENST00000366881	NM_003268.5	222	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31033.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGGGTTCA	NONE	.	.	hmmpanther:PTHR24365:SF221,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000440643	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000540964	Transcript	.	.	ENSG00000187554	11851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	TLR5_HUMAN	TLR5	HGNC	B1AZ06_HUMAN	.	UPI0000205D14	SNV	TLR5,missense_variant,p.Pro222Ser,ENST00000342210,;TLR5,missense_variant,p.Pro222Ser,ENST00000366881,;TLR5,missense_variant,p.Pro222Ser,ENST00000540964,;TLR5,downstream_gene_variant,,ENST00000407096,;	1126	103	123	SUCCESS
OBSCN	84033	.	GRCh37	1	228503597	228503597	+	synonymous_variant	Silent	SNP	C	C	A	rs369546661	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	58	1	ENST00000422127.1:c.13062C>A	p.Gly4354=	p.G4354=	ENST00000422127	NM_001098623.2	4354	ggC/ggA	0	T:0	.	.	.	.	A	G	protein_coding	YES	CCDS59204.1	15933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGGCGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000455507	.	61/116	.	.	.	.	.	.	.	.	rs369546661	61/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	16007	59	46	SUCCESS
OBSCN	84033	.	GRCh37	1	228525079	228525079	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs34771878	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	52	203	0	ENST00000422127.1:c.16795G>A	p.Gly5599Ser	p.G5599S	ENST00000422127	NM_001098623.2	5599	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS59204.1	19666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGAGGCGAG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	77/116	.	.	.	.	.	.	.	.	rs34771878	77/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Gly3233Ser,ENST00000366707,;OBSCN,missense_variant,p.Gly2718Ser,ENST00000366709,;OBSCN,missense_variant,p.Gly5599Ser,ENST00000284548,;OBSCN,missense_variant,p.Gly215Ser,ENST00000441106,;OBSCN,missense_variant,p.Gly5599Ser,ENST00000422127,;OBSCN,missense_variant,p.Gly6556Ser,ENST00000570156,;	19740	203	154	SUCCESS
OBSCN	84033	.	GRCh37	1	228560614	228560614	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	67	1	ENST00000422127.1:c.22135G>T	p.Ala7379Ser	p.A7379S	ENST00000422127	NM_001098623.2	7379	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS59204.1	25006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGCAGAG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	105/116	.	.	.	.	.	.	.	.	.	105/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.163)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala5013Ser,ENST00000366707,;OBSCN,missense_variant,p.Ala1996Ser,ENST00000441106,;OBSCN,missense_variant,p.Ala7379Ser,ENST00000422127,;OBSCN,missense_variant,p.Ala8336Ser,ENST00000570156,;	25080	68	54	SUCCESS
RYR2	6262	.	GRCh37	1	237947437	237947437	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765312361	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	147	0	ENST00000366574.2:c.12425C>T	p.Ala4142Val	p.A4142V	ENST00000366574	NM_001035.2	4142	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS55691.1	12425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGCCAAAC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	rs765312361	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ala4126Val,ENST00000542537,;RYR2,missense_variant,p.Ala4142Val,ENST00000366574,;RYR2,missense_variant,p.Ala4148Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	12742	147	98	SUCCESS
FGR	2268	.	GRCh37	1	27939760	27939760	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746822700	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	59	100	0	ENST00000374003.3:c.1351C>A	p.Leu451Ile	p.L451I	ENST00000374003	NM_001042729.1	451	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS305.1	1351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGCTCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF224,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000363117	.	12/13	.	.	.	.	.	.	.	.	rs746822700	12/13	PASS	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.84)	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,missense_variant,p.Leu385Ile,ENST00000545953,;FGR,missense_variant,p.Leu451Ile,ENST00000374004,;FGR,missense_variant,p.Leu451Ile,ENST00000399173,;FGR,missense_variant,p.Leu451Ile,ENST00000374003,;FGR,missense_variant,p.Leu451Ile,ENST00000374005,;FGR,downstream_gene_variant,,ENST00000457296,;	1640	100	118	SUCCESS
NCDN	23154	.	GRCh37	1	36025987	36025987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	33	114	0	ENST00000356090.4:c.235G>T	p.Ala79Ser	p.A79S	ENST00000356090	NM_001014839.1	79	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS392.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGATGCTGTC	NONE	.	.	hmmpanther:PTHR13109,Pfam_domain:PF05536,Superfamily_domains:SSF48371	.	.	ENSP00000362340	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000373243	Transcript	.	.	ENSG00000020129	17597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NCDN_HUMAN	NCDN	HGNC	C9J5H8_HUMAN,B4DJ92_HUMAN	.	UPI000007147C	SNV	NCDN,missense_variant,p.Ala62Ser,ENST00000373253,;NCDN,missense_variant,p.Ala62Ser,ENST00000437806,;NCDN,missense_variant,p.Ala79Ser,ENST00000373243,;NCDN,missense_variant,p.Ala79Ser,ENST00000356090,;NCDN,upstream_gene_variant,,ENST00000423723,;KIAA0319L,upstream_gene_variant,,ENST00000469892,;KIAA0319L,upstream_gene_variant,,ENST00000325722,;KIAA0319L,upstream_gene_variant,,ENST00000426982,;NCDN,non_coding_transcript_exon_variant,,ENST00000459931,;KIAA0319L,upstream_gene_variant,,ENST00000476329,;KIAA0319L,upstream_gene_variant,,ENST00000492888,;KIAA0319L,upstream_gene_variant,,ENST00000473465,;KIAA0319L,upstream_gene_variant,,ENST00000478463,;KIAA0319L,upstream_gene_variant,,ENST00000482929,;KIAA0319L,upstream_gene_variant,,ENST00000470388,;	618	114	103	SUCCESS
UQCRH	7388	.	GRCh37	1	46782226	46782226	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs776475666	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	110	199	0	ENST00000311672.5:c.246G>T		p.X82_splice	ENST00000311672	NM_006004.2	82	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS30704.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTGGCCCA	NONE	.	.	hmmpanther:PTHR15336,Pfam_domain:PF02320,Gene3D:1.10.287.20,PIRSF_domain:PIRSF000019,Superfamily_domains:SSF81531	.	.	ENSP00000309565	.	4/4	.	.	.	.	.	.	.	.	rs776475666	4/4	PASS	ENST00000311672	Transcript	.	.	ENSG00000173660	12590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QCR6_HUMAN	UQCRH	HGNC	.	.	UPI0000137A5B	SNV	UQCRH,synonymous_variant,p.%3D,ENST00000311672,;UQCRH,splice_region_variant,,ENST00000460947,;UQCRH,splice_region_variant,,ENST00000489056,;UQCRH,splice_region_variant,,ENST00000496387,;	382	199	211	SUCCESS
SLC4A11	83959	.	GRCh37	20	3218357	3218357	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	54	0	ENST00000380056.3:c.-32G>C		p.*11*	ENST00000380056	NM_032034.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54445.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGCCACCC	NONE	.	.	.	.	.	ENSP00000369399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380059	Transcript	1	.	ENSG00000088836	16438	.	.	MODIFIER	1/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC4A11	HGNC	R9UQR4_HUMAN,R9UQ67_HUMAN,R9UQ64_HUMAN,R9UQ62_HUMAN,R9UQ58_HUMAN,R9UNY3_HUMAN	.	UPI00000738A5	SNV	SLC4A11,5_prime_UTR_variant,,ENST00000380056,;SLC4A11,intron_variant,,ENST00000539553,;SLC4A11,intron_variant,,ENST00000380059,;SLC4A11,intron_variant,,ENST00000437836,;SLC4A11,intron_variant,,ENST00000474451,;	.	54	78	SUCCESS
NCOA6	23054	.	GRCh37	20	33329288	33329288	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	52	66	0	ENST00000359003.2:c.4772C>T	p.Pro1591Leu	p.P1591L	ENST00000359003	NM_014071.3	1591	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13241.1	4772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGGAGTG	SITE|p.P1591L|c.4772C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	12/16	.	.	.	.	.	.	.	.	COSM1681632	12/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.874)	.	.	1	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,missense_variant,p.Pro1591Leu,ENST00000374796,;NCOA6,missense_variant,p.Pro1591Leu,ENST00000359003,;	7343	66	122	SUCCESS
GDF5	8200	.	GRCh37	20	34025505	34025505	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	52	0	ENST00000374369.3:c.204G>C	p.Gly68=	p.G68=	ENST00000374369	NM_000557.2	68	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS13254.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCCCCC	NONE	.	.	hmmpanther:PTHR11848:SF44,hmmpanther:PTHR11848	.	.	ENSP00000363492	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000374372	Transcript	1	.	ENSG00000125965	4220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF5_HUMAN	GDF5	HGNC	D3YR76_HUMAN,D3YQT0_HUMAN	.	UPI000002E33B	SNV	GDF5,synonymous_variant,p.%3D,ENST00000374372,;GDF5,synonymous_variant,p.%3D,ENST00000374369,;GDF5OS,downstream_gene_variant,,ENST00000374375,;	708	52	82	SUCCESS
ZNF831	128611	.	GRCh37	20	57768554	57768554	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	58	78	0	ENST00000371030.2:c.2480T>C	p.Val827Ala	p.V827A	ENST00000371030	NM_178457.2	827	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS42894.1	2480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTGGAGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Val827Ala,ENST00000371030,;	2480	78	133	SUCCESS
PTK6	5753	.	GRCh37	20	62168670	62168670	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs368269732	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	46	0	ENST00000542869.1:c.-184G>T		p.*62*	ENST00000542869	NM_001256358.1			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS13524.1	.	RADIA|MUTECT|MUSE	.	CATGGCGGGCG	NONE	byCluster	.	.	.	A:0.0001	ENSP00000217185	.	1/8	.	.	.	.	.	.	.	.	rs368269732	1/8	PASS	ENST00000217185	Transcript	.	.	ENSG00000101213	9617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTK6_HUMAN	PTK6	HGNC	.	.	UPI000004F1D9	SNV	PTK6,5_prime_UTR_variant,,ENST00000217185,;PTK6,5_prime_UTR_variant,,ENST00000542869,;SRMS,downstream_gene_variant,,ENST00000217188,;	26	46	65	SUCCESS
PTK6	5753	.	GRCh37	20	62168674	62168674	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs199710245	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	47	0	ENST00000542869.1:c.-188G>C		p.*63*	ENST00000542869	NM_001256358.1			0	T:0.0016	.	.	.	.	G	.	protein_coding	YES	CCDS13524.1	.	RADIA|MUTECT|MUSE	.	GCGGGCGGGCG	NONE	byFrequency|byCluster|by1000G	.	.	.	T:0	ENSP00000217185	.	1/8	.	.	.	.	.	.	.	.	rs199710245	1/8	PASS	ENST00000217185	Transcript	.	.	ENSG00000101213	9617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTK6_HUMAN	PTK6	HGNC	.	.	UPI000004F1D9	SNV	PTK6,5_prime_UTR_variant,,ENST00000217185,;PTK6,5_prime_UTR_variant,,ENST00000542869,;SRMS,downstream_gene_variant,,ENST00000217188,;	22	47	62	SUCCESS
EVA1C	59271	.	GRCh37	21	33829933	33829933	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766239764	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	25	188	0	ENST00000300255.2:c.386G>A	p.Arg129Gln	p.R129Q	ENST00000300255	NM_058187.3	129	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13614.1	386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGGGCCT	NONE	byFrequency	.	PROSITE_profiles:PS50228,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF220,Pfam_domain:PF02140	.	.	ENSP00000300255	.	3/8	.	.	.	.	.	.	.	.	rs766239764	3/8	PASS	ENST00000300255	Transcript	.	.	ENSG00000166979	13239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.05)	.	EVA1C_HUMAN	EVA1C	HGNC	C9JS02_HUMAN,B3KWG0_HUMAN	.	UPI00000373F4	SNV	EVA1C,missense_variant,p.Arg129Gln,ENST00000401402,;EVA1C,missense_variant,p.Arg129Gln,ENST00000300255,;EVA1C,missense_variant,p.Arg34Gln,ENST00000412833,;EVA1C,missense_variant,p.Arg129Gln,ENST00000382699,;EVA1C,intron_variant,,ENST00000459833,;EVA1C,synonymous_variant,p.%3D,ENST00000435323,;EVA1C,synonymous_variant,p.%3D,ENST00000437338,;EVA1C,non_coding_transcript_exon_variant,,ENST00000469079,;EVA1C,non_coding_transcript_exon_variant,,ENST00000464037,;EVA1C,intron_variant,,ENST00000457807,;	859	188	150	SUCCESS
DSCAM	1826	.	GRCh37	21	42064797	42064797	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	96	0	ENST00000400454.1:c.447C>T	p.Ser149=	p.S149=	ENST00000400454	NM_001271534.1	149	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42929.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGAGGAGGG	BUFFER|p.S150S|c.450G>A|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,synonymous_variant,p.%3D,ENST00000400454,;	925	96	59	SUCCESS
TRPM2	7226	.	GRCh37	21	45820191	45820191	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	48	0	ENST00000300482.5:c.2258T>A	p.Leu753Gln	p.L753Q	ENST00000300482		753	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13710.1	2258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGTGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800	.	.	ENSP00000381023	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000397928	Transcript	.	.	ENSG00000142185	12339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	deleterious(0.01)	.	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,missense_variant,p.Leu733Gln,ENST00000300481,;TRPM2,missense_variant,p.Leu753Gln,ENST00000397928,;TRPM2,missense_variant,p.Leu753Gln,ENST00000397932,;TRPM2,missense_variant,p.Leu753Gln,ENST00000300482,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	2703	48	41	SUCCESS
MICAL3	57553	.	GRCh37	22	18305777	18305777	+	synonymous_variant	Silent	SNP	G	G	A	rs189510394	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	61	1	ENST00000441493.2:c.3243C>T	p.Ala1081=	p.A1081=	ENST00000441493	NM_015241.2	1081	gcC/gcT	0	A:0	A:0	.	A:0.0014	.	A	A	protein_coding	YES	CCDS46659.1	3243	SOMATICSNIPER|MUTECT|VARSCANS	.	ATCTCGGCTGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	A:0	A:0.0002	ENSP00000416015	A:0.001	23/32	.	.	.	.	.	.	.	.	rs189510394	23/32	PASS	ENST00000441493	Transcript	.	A:0.0004	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000498573,;MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,synonymous_variant,p.%3D,ENST00000578984,;	3596	63	76	SUCCESS
ZNF74	7625	.	GRCh37	22	20749677	20749677	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1435006666	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	55	145	0	ENST00000400451.2:c.89C>G	p.Ser30Trp	p.S30W	ENST00000400451	NM_003426.3	30	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS42982.1	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATCGGGTT	NONE	.	.	.	.	.	ENSP00000383301	.	2/5	.	.	.	.	.	.	.	.	COSM1032225	2/5	PASS	ENST00000400451	Transcript	.	.	ENSG00000185252	13144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.482)	.	tolerated(0.21)	1	ZNF74_HUMAN	ZNF74	HGNC	.	.	UPI000020710C	SNV	ZNF74,missense_variant,p.Ser30Trp,ENST00000400451,;ZNF74,missense_variant,p.Ser30Trp,ENST00000405993,;ZNF74,missense_variant,p.Ile35Met,ENST00000357502,;ZNF74,missense_variant,p.Ser30Trp,ENST00000356671,;ZNF74,intron_variant,,ENST00000403682,;ZNF74,intron_variant,,ENST00000420626,;USP41,upstream_gene_variant,,ENST00000454608,;ZNF74,missense_variant,p.Ser30Trp,ENST00000437275,;ZNF74,non_coding_transcript_exon_variant,,ENST00000493734,;ZNF74,upstream_gene_variant,,ENST00000476678,;	603	145	125	SUCCESS
MYO18B	84700	.	GRCh37	22	26298603	26298603	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	60	0	ENST00000536101.1:c.4847C>A	p.Ala1616Asp	p.A1616D	ENST00000536101		1616	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS54507.1	4847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCCTAG	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	30/44	.	.	.	.	.	.	.	.	.	30/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Ala1616Asp,ENST00000335473,;MYO18B,missense_variant,p.Ala1616Asp,ENST00000536101,;MYO18B,missense_variant,p.Ala1617Asp,ENST00000407587,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,upstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000599792,;CTA-125H2.2,upstream_gene_variant,,ENST00000599080,;CTA-125H2.2,upstream_gene_variant,,ENST00000594542,;CTA-125H2.2,upstream_gene_variant,,ENST00000609275,;CTA-125H2.2,upstream_gene_variant,,ENST00000600211,;CTA-125H2.2,upstream_gene_variant,,ENST00000609157,;CTA-125H2.2,upstream_gene_variant,,ENST00000608115,;CTA-125H2.2,upstream_gene_variant,,ENST00000453457,;CTA-125H2.2,upstream_gene_variant,,ENST00000594856,;CTA-125H2.2,upstream_gene_variant,,ENST00000597284,;CTA-125H2.2,upstream_gene_variant,,ENST00000600903,;CTA-125H2.2,upstream_gene_variant,,ENST00000609570,;CTA-125H2.2,upstream_gene_variant,,ENST00000608507,;CTA-125H2.2,upstream_gene_variant,,ENST00000594585,;CTA-125H2.2,upstream_gene_variant,,ENST00000600269,;CTA-125H2.2,upstream_gene_variant,,ENST00000597548,;CTA-125H2.2,upstream_gene_variant,,ENST00000595102,;CTA-125H2.2,upstream_gene_variant,,ENST00000607895,;CTA-125H2.2,upstream_gene_variant,,ENST00000609823,;MYO18B,non_coding_transcript_exon_variant,,ENST00000536204,;MYO18B,non_coding_transcript_exon_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	5097	60	44	SUCCESS
TCF20	6942	.	GRCh37	22	42608089	42608089	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	49	90	0	ENST00000359486.3:c.3223C>G	p.Pro1075Ala	p.P1075A	ENST00000359486	NM_005650.2	1075	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS14033.1	3223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGGGTCCC	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Pro1075Ala,ENST00000335626,;TCF20,missense_variant,p.Pro1075Ala,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	3360	90	105	SUCCESS
POLDIP3	84271	.	GRCh37	22	42983538	42983538	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	34	130	0	ENST00000252115.5:c.1062del	p.Ile355SerfsTer11	p.I355Sfs*11	ENST00000252115	NM_001278657.1	354	gtT/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS14038.1	1062	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGATAACATT	NONE	.	.	hmmpanther:PTHR19965,hmmpanther:PTHR19965:SF8,Superfamily_domains:SSF54928	.	.	ENSP00000252115	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000252115	Transcript	.	.	ENSG00000100227	23782	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDIP3_HUMAN	POLDIP3	HGNC	Q96DI9_HUMAN	.	UPI000006EEA7	deletion	POLDIP3,frameshift_variant,p.Ile355SerfsTer11,ENST00000252115,;POLDIP3,frameshift_variant,p.Ile326SerfsTer11,ENST00000348657,;POLDIP3,intron_variant,,ENST00000451060,;POLDIP3,intron_variant,,ENST00000339677,;POLDIP3,non_coding_transcript_exon_variant,,ENST00000491021,;POLDIP3,3_prime_UTR_variant,,ENST00000445215,;	1167	130	139	SUCCESS
KIAA1644	0	.	GRCh37	22	44681337	44681337	+	synonymous_variant	Silent	SNP	C	C	A	rs768639905	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	128	1	ENST00000381176.4:c.570G>T	p.Pro190=	p.P190=	ENST00000381176	NM_001099294.1	190	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43025.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGCGGTGG	NONE	.	.	hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF6	.	.	ENSP00000370568	.	4/5	.	.	.	.	.	.	.	.	rs768639905,COSM1416735	4/5	PASS	ENST00000381176	Transcript	.	.	ENSG00000138944	29335	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	K1644_HUMAN	KIAA1644	HGNC	.	.	UPI0000251ED8	SNV	KIAA1644,synonymous_variant,p.%3D,ENST00000381176,;	703	129	117	SUCCESS
PHF21B	112885	.	GRCh37	22	45279146	45279146	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771233148	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	28	0	ENST00000313237.5:c.1416G>T	p.Gln472His	p.Q472H	ENST00000313237	NM_138415.4	472	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS14061.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCTGGCG	NONE	.	.	.	.	.	ENSP00000324403	.	13/13	.	.	.	.	.	.	.	.	rs771233148	13/13	PASS	ENST00000313237	Transcript	.	.	ENSG00000056487	25161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.02)	.	PF21B_HUMAN	PHF21B	HGNC	B3KTL5_HUMAN	.	UPI0000072111	SNV	PHF21B,missense_variant,p.Gln430His,ENST00000396103,;PHF21B,missense_variant,p.Gln472His,ENST00000313237,;PHF21B,missense_variant,p.Gln418His,ENST00000404079,;PHF21B,missense_variant,p.Gln268His,ENST00000403565,;PHF21B,downstream_gene_variant,,ENST00000447824,;	1567	28	36	SUCCESS
CRELD2	79174	.	GRCh37	22	50312939	50312939	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770864115	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	14	157	0	ENST00000328268.4:c.191C>T	p.Thr64Met	p.T64M	ENST00000328268	NM_024324.3	64	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS46730.1	191	MUTECT|MUSE	.	AAAGACGCTGT	NONE	.	.	hmmpanther:PTHR24838:SF252,hmmpanther:PTHR24838,Pfam_domain:PF11938	.	.	ENSP00000383938	.	2/11	.	.	.	.	.	.	.	.	rs770864115	2/11	PASS	ENST00000404488	Transcript	.	.	ENSG00000184164	28150	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	CREL2_HUMAN	CRELD2	HGNC	.	.	UPI0000E56EE9	SNV	CRELD2,missense_variant,p.Thr64Met,ENST00000407217,;CRELD2,missense_variant,p.Thr64Met,ENST00000328268,;CRELD2,missense_variant,p.Thr64Met,ENST00000403427,;CRELD2,missense_variant,p.Thr64Met,ENST00000404488,;CRELD2,missense_variant,p.Thr64Met,ENST00000450207,;ALG12,upstream_gene_variant,,ENST00000330817,;CRELD2,upstream_gene_variant,,ENST00000444954,;CRELD2,upstream_gene_variant,,ENST00000462253,;CRELD2,upstream_gene_variant,,ENST00000498354,;CRELD2,non_coding_transcript_exon_variant,,ENST00000483652,;CRELD2,non_coding_transcript_exon_variant,,ENST00000482956,;CRELD2,upstream_gene_variant,,ENST00000487969,;	326	157	230	SUCCESS
ACOXL	55289	.	GRCh37	2	111556210	111556210	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	68	0	ENST00000389811.4:c.369T>C	p.Cys123=	p.C123=	ENST00000389811		123	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS46389.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGTGAAAA	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF187,Gene3D:2.40.110.10,Pfam_domain:PF02770,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF56645	.	.	ENSP00000407761	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000439055	Transcript	.	.	ENSG00000153093	25621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOXL_HUMAN	ACOXL	HGNC	C9JQI3_HUMAN	.	UPI0001884BE2	SNV	ACOXL,synonymous_variant,p.%3D,ENST00000389811,;ACOXL,synonymous_variant,p.%3D,ENST00000340561,;ACOXL,synonymous_variant,p.%3D,ENST00000439055,;ACOXL,downstream_gene_variant,,ENST00000448863,;ACOXL,upstream_gene_variant,,ENST00000417074,;ACOXL,downstream_gene_variant,,ENST00000461340,;	593	68	44	SUCCESS
WDR33	55339	.	GRCh37	2	128495606	128495606	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	86	1	ENST00000322313.4:c.725-11255T>G		p.*242*	ENST00000322313	NM_018383.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2150.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAACAACGGCA	NONE	.	.	.	.	.	ENSP00000325377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	7/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,synonymous_variant,p.%3D,ENST00000393006,;WDR33,intron_variant,,ENST00000322313,;WDR33,intron_variant,,ENST00000436787,;	.	88	63	SUCCESS
FAM84A	0	.	GRCh37	2	14774404	14774404	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	13	0	ENST00000295092.2:c.301G>T	p.Gly101Cys	p.G101C	ENST00000295092	NM_145175.2	101	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS1684.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGAGCGGTGGC	NONE	.	.	hmmpanther:PTHR13943,hmmpanther:PTHR13943:SF38	.	.	ENSP00000295092	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295092	Transcript	.	.	ENSG00000162981	20743	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	tolerated(0.06)	.	FA84A_HUMAN	FAM84A	HGNC	.	.	UPI000013E203	SNV	FAM84A,missense_variant,p.Gly101Cys,ENST00000331243,;FAM84A,missense_variant,p.Gly101Cys,ENST00000295092,;AC011897.1,upstream_gene_variant,,ENST00000581929,;AC011897.2,downstream_gene_variant,,ENST00000450715,;AC011897.2,downstream_gene_variant,,ENST00000418481,;FAM84A,upstream_gene_variant,,ENST00000464947,;FAM84A,upstream_gene_variant,,ENST00000497769,;	589	13	13	SUCCESS
ACVR2A	92	.	GRCh37	2	148684674	148684674	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1490498075	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	112	1	ENST00000241416.7:c.1373T>C	p.Ile458Thr	p.I458T	ENST00000241416	NM_001616.4	458	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS33301.1	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCATTGAAG	NONE	.	.	Prints_domain:PR00653,Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	11/11	.	.	.	.	.	.	.	.	COSM93851	11/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.883)	.	deleterious(0.03)	1	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,missense_variant,p.Ile458Thr,ENST00000241416,;ACVR2A,missense_variant,p.Ile458Thr,ENST00000404590,;ACVR2A,missense_variant,p.Ile350Thr,ENST00000535787,;ORC4,downstream_gene_variant,,ENST00000392857,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	2009	113	65	SUCCESS
EVX2	344191	.	GRCh37	2	176944851	176944851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	20	0	ENST00000308618.4:c.1415C>A	p.Ala472Asp	p.A472D	ENST00000308618	NM_001080458.1	472	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33333.1	1415	MUTECT|MUSE	.	GCGGAGCCTCG	NONE	.	.	.	.	.	ENSP00000312385	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308618	Transcript	.	.	ENSG00000174279	3507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.045)	.	deleterious(0)	.	EVX2_HUMAN	EVX2	HGNC	.	.	UPI000012A2AF	SNV	EVX2,missense_variant,p.Ala472Asp,ENST00000308618,;	1552	20	24	SUCCESS
TTN	7273	.	GRCh37	2	179517415	179517415	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	75	0	ENST00000591111.1:c.34523-147C>A		p.*11508*	ENST00000591111		13003		0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS59435.1	39008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGCCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	201/363	.	.	.	.	.	.	.	.	.	201/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala13003Asp,ENST00000589042,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN,upstream_gene_variant,,ENST00000446966,;TTN,upstream_gene_variant,,ENST00000426232,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	39233	75	49	SUCCESS
CCDC141	285025	.	GRCh37	2	179701999	179701999	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	108	0	ENST00000420890.2:c.3947G>T	p.Ser1316Ile	p.S1316I	ENST00000420890	NM_173648.3	1316	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	.	3947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCACTGATT	NONE	.	.	hmmpanther:PTHR19897	.	.	ENSP00000395995	.	23/24	.	.	.	.	.	.	.	.	COSM1691633,COSM1691634	23/24	PASS	ENST00000420890	Transcript	.	.	ENSG00000163492	26821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.481)	.	tolerated(0.08)	1,1	.	CCDC141	HGNC	H7C0P1_HUMAN,E7ERF0_HUMAN	.	UPI0000EE2F1C	SNV	CCDC141,missense_variant,p.Ser1316Ile,ENST00000420890,;CCDC141,missense_variant,p.Ser760Ile,ENST00000343876,;CCDC141,missense_variant,p.Ser741Ile,ENST00000295723,;CCDC141,non_coding_transcript_exon_variant,,ENST00000480419,;CCDC141,upstream_gene_variant,,ENST00000472828,;	4065	108	75	SUCCESS
ITGAV	3685	.	GRCh37	2	187455211	187455222	+	inframe_deletion	In_Frame_Del	DEL	TCGGCTTCGCCG	TCGGCTTCGCCG	-	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	TCGGCTTCGCCG	TCGGCTTCGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	114	50	190	0	ENST00000261023.3:c.147_158del	p.Phe49_Val53delinsLeu	p.F49_V53delinsL	ENST00000261023	NM_002210.4	49	tTCGGCTTCGCCGtg/ttg	0	.	.	.	.	.	-	FGFAV/L	protein_coding	YES	CCDS2292.1	146-157	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTACTTCGGCTTCGCCGTGGAT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF4,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000261023	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000261023	Transcript	.	.	ENSG00000138448	6150	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITAV_HUMAN	ITGAV	HGNC	L7RXH0_HUMAN	.	UPI000013D12E	deletion	ITGAV,inframe_deletion,p.Phe49_Val53delinsLeu,ENST00000374907,;ITGAV,inframe_deletion,p.Phe49_Val53delinsLeu,ENST00000261023,;	420-431	190	164	SUCCESS
COL3A1	1281	.	GRCh37	2	189850437	189850437	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	68	211	0	ENST00000304636.3:c.380G>C	p.Gly127Ala	p.G127A	ENST00000304636	NM_000090.3	127	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS2297.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGACAAC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	4/51	.	.	.	.	.	.	.	.	.	4/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Gly127Ala,ENST00000317840,;COL3A1,missense_variant,p.Gly127Ala,ENST00000304636,;COL3A1,downstream_gene_variant,,ENST00000470167,;	550	211	178	SUCCESS
SCG2	7857	.	GRCh37	2	224462635	224462635	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	71	1	ENST00000305409.2:c.1366C>A	p.Pro456Thr	p.P456T	ENST00000305409	NM_003469.4	456	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2457.1	1366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGGATTGG	NONE	.	.	hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0,Pfam_domain:PF01271	.	.	ENSP00000304133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305409	Transcript	.	.	ENSG00000171951	10575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	deleterious(0.03)	.	SCG2_HUMAN	SCG2	HGNC	C9JQI2_HUMAN,C9JDT0_HUMAN	.	UPI000013EA45	SNV	SCG2,missense_variant,p.Pro456Thr,ENST00000305409,;SCG2,downstream_gene_variant,,ENST00000433889,;SCG2,downstream_gene_variant,,ENST00000421386,;	1599	72	59	SUCCESS
DOCK10	55619	.	GRCh37	2	225669789	225669789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	90	342	1	ENST00000258390.7:c.4104C>A	p.Phe1368Leu	p.F1368L	ENST00000258390	NM_014689.2	1368	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS46528.1	4104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGAAGTC	NONE	.	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	37/56	.	.	.	.	.	.	.	.	.	37/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Phe250Leu,ENST00000422684,;DOCK10,missense_variant,p.Phe1368Leu,ENST00000258390,;DOCK10,missense_variant,p.Phe1362Leu,ENST00000409592,;DOCK10,downstream_gene_variant,,ENST00000489831,;	4172	343	235	SUCCESS
ESPNL	339768	.	GRCh37	2	239010624	239010624	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754801829	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	55	0	ENST00000343063.3:c.337C>T	p.Arg113Cys	p.R113C	ENST00000343063	NM_194312.2	113	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2525.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCGTTTT	NONE	byFrequency	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF0,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403	.	.	ENSP00000339115	.	2/9	.	.	.	.	.	.	.	.	rs754801829	2/9	PASS	ENST00000343063	Transcript	.	.	ENSG00000144488	27937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ESPNL_HUMAN	ESPNL	HGNC	C9J6L8_HUMAN	.	UPI000022BC90	SNV	ESPNL,missense_variant,p.Arg113Cys,ENST00000343063,;ESPNL,missense_variant,p.Arg113Cys,ENST00000409169,;SCLY,downstream_gene_variant,,ENST00000450965,;SCLY,downstream_gene_variant,,ENST00000422984,;SCLY,downstream_gene_variant,,ENST00000429612,;SCLY,downstream_gene_variant,,ENST00000555827,;SCLY,downstream_gene_variant,,ENST00000254663,;SCLY,downstream_gene_variant,,ENST00000437134,;SCLY,downstream_gene_variant,,ENST00000412508,;SCLY,downstream_gene_variant,,ENST00000480357,;UBE2F-SCLY,downstream_gene_variant,,ENST00000449891,;	600	55	42	SUCCESS
HDLBP	3069	.	GRCh37	2	242202212	242202212	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	121	0	ENST00000391975.1:c.364G>A	p.Asp122Asn	p.D122N	ENST00000391975	NM_203346.3	122	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2547.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTCTTTGG	NONE	.	.	hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627	.	.	ENSP00000375836	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000391975	Transcript	.	.	ENSG00000115677	4857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.609)	.	tolerated(0.14)	.	VIGLN_HUMAN	HDLBP	HGNC	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN	.	UPI00001AEF85	SNV	HDLBP,missense_variant,p.Asp122Asn,ENST00000310931,;HDLBP,missense_variant,p.Asp158Asn,ENST00000427183,;HDLBP,missense_variant,p.Asp122Asn,ENST00000430918,;HDLBP,missense_variant,p.Asp122Asn,ENST00000391976,;HDLBP,missense_variant,p.Asp23Asn,ENST00000453141,;HDLBP,missense_variant,p.Asp122Asn,ENST00000441124,;HDLBP,missense_variant,p.Asp122Asn,ENST00000444092,;HDLBP,missense_variant,p.Asp122Asn,ENST00000452065,;HDLBP,missense_variant,p.Asp122Asn,ENST00000422933,;HDLBP,missense_variant,p.Asp122Asn,ENST00000428482,;HDLBP,missense_variant,p.Asp122Asn,ENST00000391975,;HDLBP,intron_variant,,ENST00000442714,;HDLBP,downstream_gene_variant,,ENST00000420451,;HDLBP,downstream_gene_variant,,ENST00000425989,;HDLBP,upstream_gene_variant,,ENST00000373292,;HDLBP,downstream_gene_variant,,ENST00000449504,;HDLBP,downstream_gene_variant,,ENST00000427007,;HDLBP,downstream_gene_variant,,ENST00000417540,;HDLBP,downstream_gene_variant,,ENST00000458564,;HDLBP,downstream_gene_variant,,ENST00000426343,;HDLBP,downstream_gene_variant,,ENST00000422080,;HDLBP,downstream_gene_variant,,ENST00000413241,;HDLBP,downstream_gene_variant,,ENST00000449864,;HDLBP,downstream_gene_variant,,ENST00000423693,;HDLBP,downstream_gene_variant,,ENST00000462130,;	592	121	86	SUCCESS
OTOF	9381	.	GRCh37	2	26699163	26699163	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	26	0	ENST00000272371.2:c.2699G>T	p.Gly900Val	p.G900V	ENST00000272371	NM_194248.2	900	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1725.1	2699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCCGAAG	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Pfam_domain:PF08150	.	.	ENSP00000272371	.	23/47	.	.	.	.	.	.	.	.	.	23/47	PASS	ENST00000272371	Transcript	.	.	ENSG00000115155	8515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OTOF_HUMAN	OTOF	HGNC	.	.	UPI000013D94D	SNV	OTOF,missense_variant,p.Gly900Val,ENST00000403946,;OTOF,missense_variant,p.Gly153Val,ENST00000338581,;OTOF,missense_variant,p.Gly900Val,ENST00000272371,;OTOF,missense_variant,p.Gly153Val,ENST00000339598,;OTOF,missense_variant,p.Gly210Val,ENST00000402415,;OTOF,upstream_gene_variant,,ENST00000426958,;	2826	26	25	SUCCESS
MAPRE3	22924	.	GRCh37	2	27248563	27248563	+	synonymous_variant	Silent	SNP	C	C	T	rs113977877	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	134	1	ENST00000233121.2:c.582C>T	p.Gly194=	p.G194=	ENST00000233121		194	ggC/ggT	0	.	T:0.0008	.	T:0	.	T	G	protein_coding	YES	CCDS1731.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCGGCCA	NONE	by1000G	.	PROSITE_profiles:PS51230,hmmpanther:PTHR10623,hmmpanther:PTHR10623:SF10	T:0	.	ENSP00000233121	T:0	5/7	.	.	.	.	.	.	.	.	rs113977877	5/7	PASS	ENST00000233121	Transcript	.	T:0.0002	ENSG00000084764	6892	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MARE3_HUMAN	MAPRE3	HGNC	C9JB30_HUMAN	.	UPI000012EB1C	SNV	MAPRE3,synonymous_variant,p.%3D,ENST00000458529,;MAPRE3,synonymous_variant,p.%3D,ENST00000402218,;MAPRE3,synonymous_variant,p.%3D,ENST00000233121,;MAPRE3,synonymous_variant,p.%3D,ENST00000405074,;MAPRE3,downstream_gene_variant,,ENST00000491354,;MAPRE3,downstream_gene_variant,,ENST00000481222,;MAPRE3,downstream_gene_variant,,ENST00000474367,;MAPRE3,downstream_gene_variant,,ENST00000475633,;MAPRE3,downstream_gene_variant,,ENST00000494788,;	780	135	107	SUCCESS
C2orf16	84226	.	GRCh37	2	27804122	27804122	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	75	0	ENST00000408964.2:c.4683C>A	p.Pro1561=	p.P1561=	ENST00000408964	NM_032266.3	1561	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42666.1	4683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCTCTTG	NONE	.	.	.	.	.	ENSP00000386190	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408964	Transcript	.	.	ENSG00000221843	25275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB016_HUMAN	C2orf16	HGNC	.	.	UPI0000D61179	SNV	C2orf16,synonymous_variant,p.%3D,ENST00000408964,;ZNF512,upstream_gene_variant,,ENST00000355467,;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,downstream_gene_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	4734	75	93	SUCCESS
ADD2	119	.	GRCh37	2	70933425	70933425	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373392326	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	97	0	ENST00000264436.4:c.116C>A	p.Ala39Glu	p.A39E	ENST00000264436	NM_001617.3	39	gCg/gAg	0	C:0	.	.	.	.	T	A/E	protein_coding	YES	CCDS1906.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGCCGCC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672	.	C:0.0001	ENSP00000264436	.	3/16	.	.	.	.	.	.	.	.	rs373392326	3/16	PASS	ENST00000264436	Transcript	.	.	ENSG00000075340	244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	deleterious(0)	.	ADDB_HUMAN	ADD2	HGNC	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN	.	UPI0000125503	SNV	ADD2,missense_variant,p.Ala39Glu,ENST00000413157,;ADD2,missense_variant,p.Ala39Glu,ENST00000264436,;ADD2,missense_variant,p.Ala39Glu,ENST00000425976,;ADD2,missense_variant,p.Ala39Glu,ENST00000456320,;ADD2,missense_variant,p.Ala55Glu,ENST00000430656,;ADD2,missense_variant,p.Ala39Glu,ENST00000415348,;ADD2,missense_variant,p.Ala39Glu,ENST00000522886,;ADD2,missense_variant,p.Ala39Glu,ENST00000407644,;ADD2,missense_variant,p.Ala39Glu,ENST00000355733,;ADD2,downstream_gene_variant,,ENST00000447731,;ADD2,downstream_gene_variant,,ENST00000473232,;ADD2,missense_variant,p.Ala39Glu,ENST00000403045,;	561	97	70	SUCCESS
NPHP3	27031	.	GRCh37	3	132438610	132438610	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	99	0	ENST00000337331.5:c.458A>C	p.Gln153Pro	p.Q153P	ENST00000337331	NM_153240.4	153	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS3078.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTTGGTAT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000338766	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000337331	Transcript	.	.	ENSG00000113971	7907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.05)	.	NPHP3_HUMAN	NPHP3	HGNC	.	.	UPI00001B6B30	SNV	NPHP3,missense_variant,p.Gln153Pro,ENST00000326682,;NPHP3,missense_variant,p.Gln153Pro,ENST00000337331,;NPHP3,missense_variant,p.Gln153Pro,ENST00000343113,;NPHP3,downstream_gene_variant,,ENST00000383282,;NPHP3-AS1,upstream_gene_variant,,ENST00000504440,;NPHP3-AS1,upstream_gene_variant,,ENST00000489343,;NPHP3,non_coding_transcript_exon_variant,,ENST00000471145,;NPHP3,upstream_gene_variant,,ENST00000476742,;NPHP3,missense_variant,p.Gln37Pro,ENST00000469232,;NPHP3,missense_variant,p.Gln55Pro,ENST00000465756,;NPHP3,missense_variant,p.Gln153Pro,ENST00000471702,;NPHP3,upstream_gene_variant,,ENST00000490993,;	545	99	60	SUCCESS
SMC4	10051	.	GRCh37	3	160134114	160134114	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs751417104	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	108	349	0	ENST00000344722.5:c.1348G>T	p.Glu450Ter	p.E450*	ENST00000344722	NM_005496.3	450	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS3189.1	1348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGAGAAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF148,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,Superfamily_domains:SSF57997	.	.	ENSP00000349961	.	10/24	.	.	.	.	.	.	.	.	rs751417104	10/24	PASS	ENST00000357388	Transcript	.	.	ENSG00000113810	14013	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC4_HUMAN	SMC4	HGNC	C9JWF0_HUMAN,C9JVD8_HUMAN,C9JR83_HUMAN,C9JJ64_HUMAN,C9J9E4_HUMAN,C9J578_HUMAN,C9IYK2_HUMAN	.	UPI000006DA0A	SNV	SMC4,stop_gained,p.Glu450Ter,ENST00000344722,;SMC4,stop_gained,p.Glu450Ter,ENST00000462787,;SMC4,stop_gained,p.Glu450Ter,ENST00000360111,;SMC4,stop_gained,p.Glu425Ter,ENST00000469762,;SMC4,stop_gained,p.Glu450Ter,ENST00000357388,;SMC4,downstream_gene_variant,,ENST00000472991,;SMC4,downstream_gene_variant,,ENST00000489573,;SMC4,downstream_gene_variant,,ENST00000467468,;SMC4,non_coding_transcript_exon_variant,,ENST00000487747,;SMC4,downstream_gene_variant,,ENST00000497984,;SMC4,downstream_gene_variant,,ENST00000470240,;SMC4,downstream_gene_variant,,ENST00000494612,;SMC4,downstream_gene_variant,,ENST00000472282,;SMC4,3_prime_UTR_variant,,ENST00000469858,;SMC4,non_coding_transcript_exon_variant,,ENST00000493695,;SMC4,non_coding_transcript_exon_variant,,ENST00000462668,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000465563,;SMC4,downstream_gene_variant,,ENST00000468653,;SMC4,downstream_gene_variant,,ENST00000467263,;SMC4,upstream_gene_variant,,ENST00000497203,;SMC4,upstream_gene_variant,,ENST00000484799,;	1799	350	282	SUCCESS
KLHL6	89857	.	GRCh37	3	183210427	183210427	+	synonymous_variant	Silent	SNP	G	G	T	rs780034276	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	145	0	ENST00000341319.3:c.1419C>A	p.Ile473=	p.I473=	ENST00000341319	NM_130446.2	473	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3245.2	1419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGATCAC	NONE	byFrequency	.	hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000341342	.	6/7	.	.	.	.	.	.	.	.	rs780034276	6/7	PASS	ENST00000341319	Transcript	.	.	ENSG00000172578	18653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL6_HUMAN	KLHL6	HGNC	.	.	UPI0000169CB9	SNV	KLHL6,synonymous_variant,p.%3D,ENST00000341319,;KLHL6,synonymous_variant,p.%3D,ENST00000468734,;KLHL6,non_coding_transcript_exon_variant,,ENST00000489245,;	1455	145	103	SUCCESS
SCN10A	6336	.	GRCh37	3	38743417	38743417	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770122720	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	103	0	ENST00000449082.2:c.4570G>T	p.Val1524Phe	p.V1524F	ENST00000449082	NM_006514.2	1524	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS33736.1	4570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACACATT	NONE	byFrequency	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000390600	.	26/27	.	.	.	.	.	.	.	.	rs770122720	26/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious(0.03)	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Val1524Phe,ENST00000449082,;	4570	103	88	SUCCESS
CCDC13	152206	.	GRCh37	3	42750569	42750569	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1422345997	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	74	0	ENST00000310232.6:c.2051G>T	p.Gly684Val	p.G684V	ENST00000310232	NM_144719.3	684	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2705.1	2051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCCCCGC	NONE	.	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.11)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Gly684Val,ENST00000310232,;HHATL-AS1,downstream_gene_variant,,ENST00000423165,;HHATL-AS1,downstream_gene_variant,,ENST00000600839,;CCDC13,intron_variant,,ENST00000496027,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000472921,;CCDC13,downstream_gene_variant,,ENST00000466031,;	2135	74	54	SUCCESS
CCDC71	64925	.	GRCh37	3	49201424	49201424	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	151	0	ENST00000321895.6:c.218A>G	p.Tyr73Cys	p.Y73C	ENST00000321895	NM_022903.3	73	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS2790.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTATAGCCA	NONE	.	.	hmmpanther:PTHR14484:SF0,hmmpanther:PTHR14484,Pfam_domain:PF15374	.	.	ENSP00000319006	.	2/2	.	.	.	.	.	.	.	.	COSM4158138	2/2	PASS	ENST00000321895	Transcript	.	.	ENSG00000177352	25760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	CCD71_HUMAN	CCDC71	HGNC	.	.	UPI0000072BC0	SNV	CCDC71,missense_variant,p.Tyr73Cys,ENST00000321895,;RP11-694I15.7,upstream_gene_variant,,ENST00000603877,;	325	152	109	SUCCESS
BSN	8927	.	GRCh37	3	49701930	49701930	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761547616	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	49	0	ENST00000296452.4:c.11683G>A	p.Val3895Met	p.V3895M	ENST00000296452	NM_003458.3	3895	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS2800.1	11683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGTGTTC	NONE	byFrequency	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	9/12	.	.	.	.	.	.	.	.	rs761547616	9/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Val3895Met,ENST00000296452,;	11797	49	26	SUCCESS
RNF123	63891	.	GRCh37	3	49744294	49744294	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772954203	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	104	0	ENST00000327697.6:c.2459G>T	p.Arg820Leu	p.R820L	ENST00000327697	NM_022064.3	820	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS33758.1	2459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGCCGTC	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	26/39	.	.	.	.	.	.	.	.	rs772954203	26/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,missense_variant,p.Arg820Leu,ENST00000327697,;RNF123,missense_variant,p.Arg674Leu,ENST00000432042,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000494005,;	2603	104	83	SUCCESS
SLC25A31	83447	.	GRCh37	4	128651564	128651564	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	16	0	ENST00000281154.4:c.-137C>T		p.*46*	ENST00000281154	NM_031291.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3733.1	.	MUTECT|MUSE	.	GCGCGCGGCTC	NONE	.	.	.	.	.	ENSP00000281154	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000281154	Transcript	.	.	ENSG00000151475	25319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADT4_HUMAN	SLC25A31	HGNC	.	.	UPI0000037D19	SNV	SLC25A31,5_prime_UTR_variant,,ENST00000281154,;INTU,downstream_gene_variant,,ENST00000335251,;	32	16	13	SUCCESS
WDR17	116966	.	GRCh37	4	177041113	177041113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	116	1	ENST00000280190.4:c.475C>A	p.Pro159Thr	p.P159T	ENST00000280190		159	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3825.1	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACCAGAT	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000280190	.	5/31	.	.	.	.	.	.	.	.	.	5/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	tolerated(0.27)	.	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Pro159Thr,ENST00000507824,;WDR17,missense_variant,p.Pro33Thr,ENST00000505894,;WDR17,missense_variant,p.Pro159Thr,ENST00000280190,;WDR17,missense_variant,p.Pro135Thr,ENST00000508596,;WDR17,missense_variant,p.Pro135Thr,ENST00000393643,;WDR17,missense_variant,p.Asp97Glu,ENST00000513261,;	631	117	38	SUCCESS
RP11-646E20.6	0	.	GRCh37	4	69057145	69057145	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	48	0	ENST00000510782.1:n.389T>C		p.*130*	ENST00000510782		74		0	.	.	.	.	.	G	L	protein_coding	YES	.	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTAAGATA	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5,Gene3D:1ivzA00,Superfamily_domains:0047452	.	.	ENSP00000391149	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000432593	Transcript	.	.	ENSG00000226894	37262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM11L_HUMAN	TMPRSS11BNL	HGNC	.	.	UPI0000251F2C	SNV	TMPRSS11BNL,synonymous_variant,p.%3D,ENST00000432593,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000510782,;RP11-646E20.6,intron_variant,,ENST00000504453,;FTLP10,intron_variant,,ENST00000503647,;RP11-646E20.6,intron_variant,,ENST00000511720,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000514295,;	389	48	40	SUCCESS
GK2	2712	.	GRCh37	4	80327763	80327763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	42	246	0	ENST00000358842.3:c.1592C>T	p.Pro531Leu	p.P531L	ENST00000358842	NM_033214.2	531	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3585.1	1592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGGCAGA	NONE	.	.	.	.	.	ENSP00000351706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358842	Transcript	.	.	ENSG00000196475	4291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.02)	.	GLPK2_HUMAN	GK2	HGNC	.	.	UPI000011E629	SNV	GK2,missense_variant,p.Pro531Leu,ENST00000358842,;	1610	246	176	SUCCESS
MARCH6	0	.	GRCh37	5	10403615	10403615	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	36	124	1	ENST00000274140.5:c.1294G>T	p.Val432Phe	p.V432F	ENST00000274140	NM_005885.3	432	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS34135.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATGTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,missense_variant,p.Val384Phe,ENST00000449913,;MARCH6,missense_variant,p.Val130Phe,ENST00000510792,;MARCH6,missense_variant,p.Val432Phe,ENST00000274140,;MARCH6,missense_variant,p.Val327Phe,ENST00000503788,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,downstream_gene_variant,,ENST00000514961,;	1426	125	144	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222692	140222692	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1554139748	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	58	0	ENST00000531613.1:c.1786G>T	p.Ala596Ser	p.A596S	ENST00000531613	NM_018911.2	596	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS54919.1	1786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCGCAGTG	BUFFER|p.D598D|c.1794C>T|4,BUFFER|p.D598D|c.1794C>T|4	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious_low_confidence(0)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Ala596Ser,ENST00000531613,;PCDHA8,missense_variant,p.Ala596Ser,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000378122,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	1786	58	42	SUCCESS
SLC6A3	6531	.	GRCh37	5	1411361	1411361	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	23	50	0	ENST00000270349.9:c.1266C>A	p.Ser422Arg	p.S422R	ENST00000270349	NM_001044.4	422	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS3863.1	1266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGCTGTC	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	9/15	.	.	.	.	.	.	.	.	COSM1063552	9/15	PASS	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,missense_variant,p.Ser422Arg,ENST00000270349,;SLC6A3,missense_variant,p.Ser422Arg,ENST00000453492,;SLC6A3,downstream_gene_variant,,ENST00000513308,;SLC6A3,downstream_gene_variant,,ENST00000511750,;	1394	50	36	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	143613	143613	+	synonymous_variant	Silent	SNP	C	C	A	rs778596821	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	67	0	ENST00000283426.6:c.738C>A	p.Ile246=	p.I246=	ENST00000283426	NM_052909.3	246	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34124.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCCCCAG	NONE	.	.	hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	.	.	ENSP00000283426	.	3/18	.	.	.	.	.	.	.	.	rs778596821,COSM3611882	3/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,synonymous_variant,p.%3D,ENST00000502646,;PLEKHG4B,synonymous_variant,p.%3D,ENST00000283426,;CTD-2231H16.1,downstream_gene_variant,,ENST00000512035,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	788	67	58	SUCCESS
GEMIN5	25929	.	GRCh37	5	154287212	154287212	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	41	160	0	ENST00000285873.7:c.2334A>G	p.Ser778=	p.S778=	ENST00000285873	NM_001252156.1	778	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4330.1	2334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCTGACAC	NONE	.	.	hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850	.	.	ENSP00000285873	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,synonymous_variant,p.%3D,ENST00000285873,;	2410	160	124	SUCCESS
COL23A1	91522	.	GRCh37	5	177669082	177669082	+	synonymous_variant	Silent	SNP	G	G	T	rs551123931	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	42	0	ENST00000390654.3:c.1542C>A	p.Gly514=	p.G514=	ENST00000390654	NM_173465.3	514	ggC/ggA	0	.	A:0	.	A:0	.	T	G	protein_coding	YES	CCDS4436.1	1542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCGCCCTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24023,Pfam_domain:PF01391	A:0.001	.	ENSP00000375069	A:0	27/29	.	.	.	.	.	.	.	.	rs551123931,COSM3393476	27/29	PASS	ENST00000390654	Transcript	.	A:0.0002	ENSG00000050767	22990	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	CONA1_HUMAN	COL23A1	HGNC	.	.	UPI0000062274	SNV	COL23A1,synonymous_variant,p.%3D,ENST00000390654,;	1900	42	41	SUCCESS
EGFLAM	133584	.	GRCh37	5	38438475	38438475	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	96	143	0	ENST00000354891.3:c.2382C>T	p.Ala794=	p.A794=	ENST00000354891	NM_001205301.1	794	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS56363.1	2382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCCATGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF49899	.	.	ENSP00000346964	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000397202,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;	2728	143	164	SUCCESS
PTGER4	5734	.	GRCh37	5	40692406	40692406	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764442680	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	99	0	ENST00000302472.3:c.1393C>A	p.Pro465Thr	p.P465T	ENST00000302472	NM_000958.2	465	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3930.1	1393	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCTGCC	NONE	byFrequency	.	hmmpanther:PTHR11866:SF6,hmmpanther:PTHR11866	.	.	ENSP00000302846	.	3/3	.	.	.	.	.	.	.	.	rs764442680	3/3	PASS	ENST00000302472	Transcript	.	.	ENSG00000171522	9596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.23)	.	PE2R4_HUMAN	PTGER4	HGNC	A0PJF5_HUMAN	.	UPI000005042F	SNV	PTGER4,missense_variant,p.Pro465Thr,ENST00000302472,;PTGER4,downstream_gene_variant,,ENST00000513635,;PTGER4,downstream_gene_variant,,ENST00000512578,;	2417	99	96	SUCCESS
MAP3K1	4214	.	GRCh37	5	56176951	56176951	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	37	126	0	ENST00000399503.3:c.2221A>G	p.Ile741Val	p.I741V	ENST00000399503	NM_005921.1	741	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43318.1	2221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTATTCTT	NONE	.	.	hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361,Superfamily_domains:SSF48371	.	.	ENSP00000382423	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000399503	Transcript	1	.	ENSG00000095015	6848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.189)	.	tolerated(0.17)	.	M3K1_HUMAN	MAP3K1	HGNC	.	.	UPI000015153B	SNV	MAP3K1,missense_variant,p.Ile741Val,ENST00000399503,;MAP3K1,upstream_gene_variant,,ENST00000469188,;	2221	127	85	SUCCESS
XRCC4	7518	.	GRCh37	5	82406962	82406962	+	synonymous_variant	Silent	SNP	G	G	C	rs780318044	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	104	0	ENST00000338635.6:c.255G>C	p.Thr85=	p.T85=	ENST00000338635		85	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4059.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACGTTTAA	NONE	.	.	Pfam_domain:PF06632,Gene3D:2.170.210.10,Superfamily_domains:0037779	.	.	ENSP00000421491	.	3/8	.	.	.	.	.	.	.	.	rs780318044	3/8	PASS	ENST00000511817	Transcript	1	.	ENSG00000152422	12831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRCC4_HUMAN	XRCC4	HGNC	.	.	UPI000006DF4E	SNV	XRCC4,synonymous_variant,p.%3D,ENST00000338635,;XRCC4,synonymous_variant,p.%3D,ENST00000511817,;XRCC4,synonymous_variant,p.%3D,ENST00000282268,;XRCC4,synonymous_variant,p.%3D,ENST00000396027,;XRCC4,non_coding_transcript_exon_variant,,ENST00000509268,;XRCC4,non_coding_transcript_exon_variant,,ENST00000542685,;	335	104	83	SUCCESS
ESR1	2099	.	GRCh37	6	152129176	152129176	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	51	0	ENST00000206249.3:c.129C>A	p.Tyr43Ter	p.Y43*	ENST00000206249	NM_000125.3	43	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS5234.1	129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTACCTGGA	NONE	.	.	hmmpanther:PTHR24084:SF3,hmmpanther:PTHR24084,Pfam_domain:PF02159,PIRSF_domain:PIRSF500101,PIRSF_domain:PIRSF002527,Prints_domain:PR00543	.	.	ENSP00000405330	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000440973	Transcript	.	.	ENSG00000091831	3467	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESR1_HUMAN	ESR1	HGNC	Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN	.	UPI000004A328	SNV	ESR1,stop_gained,p.Tyr43Ter,ENST00000440973,;ESR1,stop_gained,p.Tyr43Ter,ENST00000338799,;ESR1,stop_gained,p.Tyr43Ter,ENST00000443427,;ESR1,stop_gained,p.Tyr43Ter,ENST00000406599,;ESR1,stop_gained,p.Tyr43Ter,ENST00000404742,;ESR1,stop_gained,p.Tyr43Ter,ENST00000456483,;ESR1,stop_gained,p.Tyr43Ter,ENST00000206249,;ESR1,stop_gained,p.Tyr43Ter,ENST00000446550,;ESR1,upstream_gene_variant,,ENST00000427531,;ESR1,downstream_gene_variant,,ENST00000473497,;ESR1,upstream_gene_variant,,ENST00000488573,;	499	51	54	SUCCESS
EZR	7430	.	GRCh37	6	159210363	159210363	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	129	0	ENST00000337147.7:c.53T>A	p.Phe18Tyr	p.F18Y	ENST00000337147	NM_003379.4	18	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS5258.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAAACTCC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF19,Pfam_domain:PF09379,Gene3D:3.10.20.90,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000356042	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000367075	Transcript	.	.	ENSG00000092820	12691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EZRI_HUMAN	EZR	HGNC	B7Z9R6_HUMAN	.	UPI0000167BA1	SNV	EZR,missense_variant,p.Phe18Tyr,ENST00000337147,;EZR,missense_variant,p.Phe18Tyr,ENST00000392177,;EZR,missense_variant,p.Phe18Tyr,ENST00000367075,;EZR,non_coding_transcript_exon_variant,,ENST00000476189,;	222	129	114	SUCCESS
MAP3K4	4216	.	GRCh37	6	161507445	161507445	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	76	0	ENST00000392142.4:c.2407G>T	p.Glu803Ter	p.E803*	ENST00000392142	NM_005922.2	803	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34565.1	2407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAGCTC	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,stop_gained,p.Glu803Ter,ENST00000366920,;MAP3K4,stop_gained,p.Glu803Ter,ENST00000366919,;MAP3K4,stop_gained,p.Glu803Ter,ENST00000348824,;MAP3K4,stop_gained,p.Glu803Ter,ENST00000392142,;MAP3K4,stop_gained,p.Glu803Ter,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000540205,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000542851,;	2555	76	84	SUCCESS
MSH5	4439	.	GRCh37	6	31725898	31725898	+	intron_variant	Intron	SNP	C	C	T	rs575702248	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	43	0	ENST00000375750.3:c.1015-44C>T		p.*339*	ENST00000375750	NM_172165.3			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS34410.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCGAGCT	NONE	byFrequency|by1000G	.	.	A:0.002	.	ENSP00000364855	A:0	.	.	.	.	.	.	.	.	.	rs575702248	.	PASS	ENST00000375703	Transcript	.	A:0.0024	ENSG00000204410	7328	.	.	MODIFIER	12/24	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0102	.	.	MSH5_HUMAN	MSH5	HGNC	Q5SSR2_HUMAN	.	UPI0000070722	SNV	MSH5,5_prime_UTR_variant,,ENST00000395853,;MSH5,intron_variant,,ENST00000375740,;MSH5,intron_variant,,ENST00000375755,;MSH5,intron_variant,,ENST00000375750,;MSH5,intron_variant,,ENST00000534153,;MSH5,intron_variant,,ENST00000450148,;MSH5,intron_variant,,ENST00000375742,;MSH5,intron_variant,,ENST00000375703,;MSH5,intron_variant,,ENST00000431848,;SAPCD1,upstream_gene_variant,,ENST00000415669,;SAPCD1,upstream_gene_variant,,ENST00000425424,;MSH5,upstream_gene_variant,,ENST00000429846,;SAPCD1,upstream_gene_variant,,ENST00000433778,;RNU6-850P,upstream_gene_variant,,ENST00000516934,;MSH5,intron_variant,,ENST00000468602,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000491552,;MSH5-SAPCD1,intron_variant,,ENST00000493662,;MSH5,intron_variant,,ENST00000423982,;MSH5,intron_variant,,ENST00000463144,;MSH5,intron_variant,,ENST00000468136,;MSH5,upstream_gene_variant,,ENST00000494646,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000498473,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000476085,;MSH5,upstream_gene_variant,,ENST00000467319,;MSH5,upstream_gene_variant,,ENST00000484309,;MSH5,upstream_gene_variant,,ENST00000494458,;MSH5,downstream_gene_variant,,ENST00000497269,;	.	43	42	SUCCESS
GNMT	27232	.	GRCh37	6	42928679	42928679	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	17	0	ENST00000372808.3:c.174C>T	p.Cys58=	p.C58=	ENST00000372808	NM_018960.4	58	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS4876.1	174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCAGCG	NONE	.	.	Superfamily_domains:SSF53335,PIRSF_domain:PIRSF000385,Gene3D:3.40.50.150,hmmpanther:PTHR16458,PROSITE_profiles:PS51600	.	.	ENSP00000361894	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000372808	Transcript	.	.	ENSG00000124713	4415	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNMT_HUMAN	GNMT	HGNC	.	.	UPI000000161D	SNV	GNMT,synonymous_variant,p.%3D,ENST00000372808,;PEX6,downstream_gene_variant,,ENST00000304611,;PEX6,downstream_gene_variant,,ENST00000244546,;RPL24P4,upstream_gene_variant,,ENST00000326586,;	184	17	22	SUCCESS
DLK2	65989	.	GRCh37	6	43418725	43418725	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs80187636	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	45	95	0	ENST00000357338.3:c.704A>T	p.Asp235Val	p.D235V	ENST00000357338	NM_206539.1	235	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS4897.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGTCGAAG	NONE	suspect|byCluster	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Pfam_domain:PF00008,Gene3D:2.10.25.10,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,hmmpanther:PTHR24838:SF277,hmmpanther:PTHR24838,PROSITE_profiles:PS50026	.	.	ENSP00000349893	.	6/6	.	.	.	.	.	.	.	.	rs80187636	6/6	PASS	ENST00000357338	Transcript	.	.	ENSG00000171462	21113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	deleterious(0.03)	.	DLK2_HUMAN	DLK2	HGNC	Q5T3U0_HUMAN	.	UPI0000051E36	SNV	DLK2,missense_variant,p.Asp235Val,ENST00000372488,;DLK2,missense_variant,p.Asp141Val,ENST00000430324,;DLK2,missense_variant,p.Asp229Val,ENST00000414245,;DLK2,missense_variant,p.Asp229Val,ENST00000372485,;DLK2,missense_variant,p.Asp235Val,ENST00000357338,;ABCC10,downstream_gene_variant,,ENST00000244533,;ABCC10,downstream_gene_variant,,ENST00000372530,;ABCC10,downstream_gene_variant,,ENST00000505344,;ABCC10,downstream_gene_variant,,ENST00000372512,;ABCC10,downstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000463024,;	1405	95	104	SUCCESS
HSP90AB1	3326	.	GRCh37	6	44218826	44218826	+	synonymous_variant	Silent	SNP	A	A	G	rs2070694	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	49	91	0	ENST00000353801.3:c.999A>G	p.Leu333=	p.L333=	ENST00000353801	NM_001271969.1	333	ctA/ctG	0	.	G:0	.	G:0	.	G	L	protein_coding	YES	CCDS4909.1	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTATTTAT	NONE	byFrequency|byCluster|by1000G	.	HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:SSF54211	G:0.006	.	ENSP00000360609	G:0	7/12	.	.	.	.	.	.	.	.	rs2070694	7/12	PASS	ENST00000371554	Transcript	.	G:0.0014	ENSG00000096384	5258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	HS90B_HUMAN	HSP90AB1	HGNC	A8K3W9_HUMAN	.	UPI00001411EF	SNV	HSP90AB1,synonymous_variant,p.%3D,ENST00000371646,;HSP90AB1,synonymous_variant,p.%3D,ENST00000353801,;HSP90AB1,synonymous_variant,p.%3D,ENST00000371554,;SLC35B2,downstream_gene_variant,,ENST00000538577,;SLC35B2,downstream_gene_variant,,ENST00000537814,;SLC35B2,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000393812,;MIR4647,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	1213	91	91	SUCCESS
BCKDHB	594	.	GRCh37	6	80816376	80816376	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs371569720	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	53	0	ENST00000320393.6:c.-35G>A		p.*12*	ENST00000320393	NM_183050.2			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS4994.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGGCTGCA	NONE	byCluster	.	.	.	A:0.0001	ENSP00000318351	.	1/10	.	.	.	.	.	.	.	.	rs371569720	1/10	PASS	ENST00000320393	Transcript	.	.	ENSG00000083123	987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODBB_HUMAN	BCKDHB	HGNC	Q6LCK9_HUMAN,B7ZB80_HUMAN	.	UPI0000001C97	SNV	BCKDHB,5_prime_UTR_variant,,ENST00000369760,;BCKDHB,5_prime_UTR_variant,,ENST00000356489,;BCKDHB,5_prime_UTR_variant,,ENST00000320393,;BCKDHB,upstream_gene_variant,,ENST00000545529,;	13	53	56	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90577673	90577673	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	80	0	ENST00000551025.1:n.6101G>A		p.*2034*	ENST00000551025				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGCCTTA	NONE	.	.	.	.	.	.	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000551025	Transcript	.	.	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,intron_variant,,ENST00000548224,;	6101	80	64	SUCCESS
TMEM209	84928	.	GRCh37	7	129845243	129845243	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs746330873	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	60	0	ENST00000397622.2:c.-28G>C		p.*10*	ENST00000397622	NM_032842.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47712.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGCGCCAC	NONE	byFrequency	.	.	.	.	ENSP00000380747	.	1/15	.	.	.	.	.	.	.	.	rs746330873	1/15	PASS	ENST00000397622	Transcript	.	.	ENSG00000146842	21898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM209_HUMAN	TMEM209	HGNC	C9J5K4_HUMAN	.	UPI000020FAA2	SNV	TMEM209,5_prime_UTR_variant,,ENST00000336804,;TMEM209,5_prime_UTR_variant,,ENST00000473456,;TMEM209,5_prime_UTR_variant,,ENST00000397622,;TMEM209,intron_variant,,ENST00000471985,;TMEM209,upstream_gene_variant,,ENST00000471077,;SSMEM1,upstream_gene_variant,,ENST00000297819,;TMEM209,upstream_gene_variant,,ENST00000462753,;RP11-775D22.3,downstream_gene_variant,,ENST00000483283,;	96	60	53	SUCCESS
AKR1B15	441282	.	GRCh37	7	134262493	134262493	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1017204425	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	66	107	1	ENST00000457545.2:c.947C>A	p.Thr316Asn	p.T316N	ENST00000457545	NM_001080538.2	316	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS47715.2	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACCATAC	NONE	.	.	Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF197,hmmpanther:PTHR11732	.	.	ENSP00000389289	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000457545	Transcript	.	.	ENSG00000227471	37281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	tolerated(0.08)	.	AK1BF_HUMAN	AKR1B15	HGNC	.	.	UPI00004193E1	SNV	AKR1B15,missense_variant,p.Thr316Asn,ENST00000457545,;AKR1B15,missense_variant,p.Thr288Asn,ENST00000423958,;	1207	108	117	SUCCESS
DGKI	9162	.	GRCh37	7	137080389	137080389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	33	119	0	ENST00000288490.5:c.3036G>T	p.Gln1012His	p.Q1012H	ENST00000288490	NM_004717.2	1012	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5845.1	3036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCTGGCA	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000288490	.	33/34	.	.	.	.	.	.	.	.	.	33/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	tolerated(0.99)	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,missense_variant,p.Gln681His,ENST00000453654,;DGKI,missense_variant,p.Gln1012His,ENST00000288490,;DGKI,missense_variant,p.Gln1025His,ENST00000424189,;DGKI,missense_variant,p.Gln994His,ENST00000446122,;DGKI,non_coding_transcript_exon_variant,,ENST00000494390,;DGKI,non_coding_transcript_exon_variant,,ENST00000477835,;DGKI,non_coding_transcript_exon_variant,,ENST00000497321,;DGKI,non_coding_transcript_exon_variant,,ENST00000486153,;	3037	119	126	SUCCESS
TPK1	27010	.	GRCh37	7	144150676	144150676	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	27	104	0	ENST00000360057.3:c.694G>T	p.Asp232Tyr	p.D232Y	ENST00000360057	NM_022445.3	232	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5888.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCAGTTT	NONE	.	.	hmmpanther:PTHR13622:SF4,hmmpanther:PTHR13622,Gene3D:2.60.120.320,Pfam_domain:PF04265,TIGRFAM_domain:TIGR01378,SMART_domains:SM00983,PIRSF_domain:PIRSF031057,Superfamily_domains:SSF63862	.	.	ENSP00000353165	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000360057	Transcript	.	.	ENSG00000196511	17358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	TPK1_HUMAN	TPK1	HGNC	Q75MX1_HUMAN,F8VRJ6_HUMAN	.	UPI000004FD50	SNV	TPK1,missense_variant,p.Asp232Tyr,ENST00000360057,;TPK1,missense_variant,p.Asp183Tyr,ENST00000378099,;TPK1,missense_variant,p.Asp178Tyr,ENST00000538212,;TPK1,3_prime_UTR_variant,,ENST00000549981,;RNU6ATAC40P,downstream_gene_variant,,ENST00000408580,;TPK1,non_coding_transcript_exon_variant,,ENST00000547966,;TPK1,3_prime_UTR_variant,,ENST00000482940,;TPK1,3_prime_UTR_variant,,ENST00000378098,;	797	104	111	SUCCESS
GIMAP8	155038	.	GRCh37	7	150171330	150171330	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	71	99	1	ENST00000307271.3:c.913G>T	p.Asp305Tyr	p.D305Y	ENST00000307271	NM_175571.2	305	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS34777.1	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGGACATC	CODON|p.P304P|c.912G>A|4	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF45,PROSITE_profiles:PS51720	.	.	ENSP00000305107	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307271	Transcript	.	.	ENSG00000171115	21792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	GIMA8_HUMAN	GIMAP8	HGNC	.	.	UPI0000168646	SNV	GIMAP8,missense_variant,p.Asp305Tyr,ENST00000307271,;	1487	100	132	SUCCESS
NOS3	4846	.	GRCh37	7	150696315	150696315	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749115207	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	30	40	0	ENST00000297494.3:c.994G>C	p.Ala332Pro	p.A332P	ENST00000297494	NM_000603.4	332	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS5912.1	994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACGCCCTC	NONE	byFrequency	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.1230.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	.	.	ENSP00000297494	.	9/27	.	.	.	.	.	.	.	.	rs749115207	9/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,missense_variant,p.Ala332Pro,ENST00000467517,;NOS3,missense_variant,p.Ala332Pro,ENST00000484524,;NOS3,missense_variant,p.Ala126Pro,ENST00000461406,;NOS3,missense_variant,p.Ala332Pro,ENST00000297494,;NOS3,upstream_gene_variant,,ENST00000460603,;	1351	40	46	SUCCESS
MALSU1	115416	.	GRCh37	7	23338990	23338990	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	10	0	ENST00000466681.1:c.19G>T	p.Val7Leu	p.V7L	ENST00000466681	NM_138446.1	7	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS5381.1	19	RADIA|MUTECT|MUSE	.	GCCGTGTGGCG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000419370	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000466681	Transcript	.	.	ENSG00000156928	21721	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.034)	.	tolerated_low_confidence(0.11)	.	MASU1_HUMAN	MALSU1	HGNC	.	.	UPI000007180F	SNV	MALSU1,missense_variant,p.Val7Leu,ENST00000466681,;MALSU1,intron_variant,,ENST00000479974,;MALSU1,non_coding_transcript_exon_variant,,ENST00000481564,;MALSU1,non_coding_transcript_exon_variant,,ENST00000287543,;	172	10	10	SUCCESS
IGF2BP3	10643	.	GRCh37	7	23509624	23509624	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	82	0	ENST00000258729.3:c.106A>T	p.Lys36Ter	p.K36*	ENST00000258729	NM_006547.2	36	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5382.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTCACCA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000258729	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000258729	Transcript	.	.	ENSG00000136231	28868	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B3_HUMAN	IGF2BP3	HGNC	.	.	UPI0000117172	SNV	IGF2BP3,stop_gained,p.Lys36Ter,ENST00000258729,;IGF2BP3,upstream_gene_variant,,ENST00000468263,;IGF2BP3,upstream_gene_variant,,ENST00000491719,;IGF2BP3,stop_gained,p.Lys36Ter,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000476938,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468005,;	463	82	75	SUCCESS
AMPH	273	.	GRCh37	7	38457451	38457451	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	72	0	ENST00000356264.2:c.1372G>T	p.Ala458Ser	p.A458S	ENST00000356264	NM_001635.3	458	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5456.1	1372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCCCGAG	NONE	.	.	hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23	.	.	ENSP00000348602	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.26)	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Ala458Ser,ENST00000356264,;AMPH,intron_variant,,ENST00000428293,;AMPH,intron_variant,,ENST00000441628,;AMPH,intron_variant,,ENST00000325590,;AMPH,intron_variant,,ENST00000471913,;AMPH,intron_variant,,ENST00000467580,;AMPH,non_coding_transcript_exon_variant,,ENST00000462072,;AMPH,non_coding_transcript_exon_variant,,ENST00000475581,;AMPH,intron_variant,,ENST00000450124,;	1588	72	65	SUCCESS
CCM2	83605	.	GRCh37	7	45039909	45039909	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	28	0	ENST00000258781.6:c.-24G>T		p.*8*	ENST00000258781	NM_031443.3			0	.	.	.	.	.	T	.	protein_coding	.	CCDS55109.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGCCGCG	NONE	.	.	.	.	.	ENSP00000444725	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000541586	Transcript	.	.	ENSG00000136280	21708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCM2_HUMAN	CCM2	HGNC	.	.	UPI0000D4E503	SNV	CCM2,5_prime_UTR_variant,,ENST00000541586,;CCM2,5_prime_UTR_variant,,ENST00000258781,;CCM2,5_prime_UTR_variant,,ENST00000544363,;CCM2,non_coding_transcript_exon_variant,,ENST00000478582,;CCM2,intron_variant,,ENST00000461377,;CCM2,5_prime_UTR_variant,,ENST00000488727,;	123	28	21	SUCCESS
AP5Z1	9907	.	GRCh37	7	4825905	4825905	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	58	0	ENST00000348624.4:c.1157A>T	p.Glu386Val	p.E386V	ENST00000348624	NM_014855.2	386	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS47528.1	1157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGAAGCCG	NONE	.	.	hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Pfam_domain:PF14764	.	.	ENSP00000297562	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000348624	Transcript	.	.	ENSG00000242802	22197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0)	.	AP5Z1_HUMAN	AP5Z1	HGNC	A4D1Z4_HUMAN	.	UPI00003E5903	SNV	AP5Z1,missense_variant,p.Glu386Val,ENST00000348624,;AP5Z1,missense_variant,p.Glu386Val,ENST00000401897,;MIR4656,downstream_gene_variant,,ENST00000579503,;AP5Z1,upstream_gene_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,upstream_gene_variant,,ENST00000477454,;AP5Z1,downstream_gene_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000469614,;	1251	58	68	SUCCESS
PMS2CL	441194	.	GRCh37	7	6777143	6777143	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	69	1	ENST00000403974.2:n.522G>A		p.*174*	ENST00000403974				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GACAGGGGCTC	NONE	.	.	.	.	.	.	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000403974	Transcript	.	.	ENSG00000187953	30061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PMS2CL	HGNC	.	.	.	SNV	PMS2CL,non_coding_transcript_exon_variant,,ENST00000486256,;PMS2CL,upstream_gene_variant,,ENST00000431453,;PMS2CL,non_coding_transcript_exon_variant,,ENST00000403974,;	522	70	60	SUCCESS
CACNA2D1	781	.	GRCh37	7	81591312	81591312	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	141	0	ENST00000356253.5:c.2900C>A	p.Ala967Asp	p.A967D	ENST00000356253		967	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS5598.1	2864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCCGTG	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	36/39	.	.	.	.	.	.	.	.	.	36/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Ala967Asp,ENST00000356253,;CACNA2D1,missense_variant,p.Ala955Asp,ENST00000356860,;CACNA2D1,missense_variant,p.Ala167Asp,ENST00000535308,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;	3203	141	80	SUCCESS
NPTX2	4885	.	GRCh37	7	98256508	98256508	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	60	0	ENST00000265634.3:c.920G>T	p.Gly307Val	p.G307V	ENST00000265634	NM_002523.2	307	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5657.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGGCAAGT	NONE	.	.	hmmpanther:PTHR19277:SF1,hmmpanther:PTHR19277,Gene3D:2.60.120.200,Pfam_domain:PF00354,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000265634	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000265634	Transcript	.	.	ENSG00000106236	7953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.03)	.	NPTX2_HUMAN	NPTX2	HGNC	.	.	UPI000013040F	SNV	NPTX2,missense_variant,p.Gly307Val,ENST00000265634,;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	1085	60	59	SUCCESS
TBC1D31	93594	.	GRCh37	8	124084977	124084977	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	222	28	77	1	ENST00000287380.1:c.-33G>T		p.*11*	ENST00000287380	NM_145647.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6338.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGCGGGC	NONE	.	.	.	.	.	ENSP00000287380	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000287380	Transcript	.	.	ENSG00000156787	30888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBC31_HUMAN	TBC1D31	HGNC	E5RG45_HUMAN	.	UPI000013DEAB	SNV	TBC1D31,5_prime_UTR_variant,,ENST00000309336,;TBC1D31,5_prime_UTR_variant,,ENST00000522420,;TBC1D31,5_prime_UTR_variant,,ENST00000519418,;TBC1D31,5_prime_UTR_variant,,ENST00000327098,;TBC1D31,5_prime_UTR_variant,,ENST00000287380,;TBC1D31,intron_variant,,ENST00000520368,;TBC1D31,upstream_gene_variant,,ENST00000522276,;TBC1D31,upstream_gene_variant,,ENST00000378080,;TBC1D31,upstream_gene_variant,,ENST00000521676,;TBC1D31,upstream_gene_variant,,ENST00000518684,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;TBC1D31,upstream_gene_variant,,ENST00000524307,;	58	78	250	SUCCESS
FER1L6	654463	.	GRCh37	8	125074249	125074249	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	201	104	0	ENST00000399018.1:c.3304G>T	p.Val1102Leu	p.V1102L	ENST00000399018		1102	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS43767.1	3304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGTGGAT	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.7)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Val1102Leu,ENST00000522917,;FER1L6,missense_variant,p.Val1102Leu,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;FER1L6-AS2,upstream_gene_variant,,ENST00000601180,;	3510	104	252	SUCCESS
COL22A1	169044	.	GRCh37	8	139737668	139737668	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777919486	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	9	85	0	ENST00000303045.6:c.2155C>T	p.Pro719Ser	p.P719S	ENST00000303045	NM_152888.1	719	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6376.1	2155	MUTECT|MUSE	.	ACCAGGGGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	24/65	.	.	.	.	.	.	.	.	rs777919486,COSM1700703,COSM3675051	24/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	unknown(0)	.	.	0,1,1	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Pro719Ser,ENST00000303045,;COL22A1,missense_variant,p.Pro719Ser,ENST00000435777,;COL22A1,upstream_gene_variant,,ENST00000341807,;	2602	85	196	SUCCESS
KCNK9	51305	.	GRCh37	8	140631020	140631020	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	202	86	0	ENST00000303015.1:c.606C>A	p.Phe202Leu	p.F202L	ENST00000303015	NM_016601.2	202	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS6377.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGAACCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,Pfam_domain:PF07885,Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01333	.	.	ENSP00000430676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000520439	Transcript	1	.	ENSG00000169427	6283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0.04)	.	KCNK9_HUMAN	KCNK9	HGNC	.	.	UPI000000D8AC	SNV	KCNK9,missense_variant,p.Phe202Leu,ENST00000520439,;KCNK9,missense_variant,p.Phe202Leu,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Phe202Leu,ENST00000522317,;	670	86	264	SUCCESS
SCRIB	23513	.	GRCh37	8	144891811	144891811	+	synonymous_variant	Silent	SNP	G	G	A	rs546935238	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	87	46	0	ENST00000320476.3:c.1608C>T	p.Pro536=	p.P536=	ENST00000320476	NM_015356.4	536	ccC/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS6412.1	1608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGGGCTC	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000349486	A:0	14/37	.	.	.	.	.	.	.	.	rs546935238,COSM3897524,COSM3897525	14/37	PASS	ENST00000356994	Transcript	1	A:0.0002	ENSG00000180900	30377	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0.001	.	0,1,1	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,synonymous_variant,p.%3D,ENST00000377533,;SCRIB,synonymous_variant,p.%3D,ENST00000356994,;SCRIB,synonymous_variant,p.%3D,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	1615	46	112	SUCCESS
DLGAP2	9228	.	GRCh37	8	1514022	1514022	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	97	0	ENST00000421627.2:c.1164G>T	p.Leu388=	p.L388=	ENST00000421627	NM_004745.4	388	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47760.1	1164	RADIA|MUTECT|MUSE	.	CTGCTGAAGTC	NONE	.	.	hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3	.	.	ENSP00000400258	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000421627	Transcript	.	.	ENSG00000198010	2906	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DLGP2_HUMAN	DLGAP2	HGNC	.	.	UPI000021BFBC	SNV	DLGAP2,synonymous_variant,p.%3D,ENST00000520901,;DLGAP2,synonymous_variant,p.%3D,ENST00000421627,;RP11-666I19.2,intron_variant,,ENST00000518063,;	1298	98	69	SUCCESS
POLR3D	661	.	GRCh37	8	22105780	22105780	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs199704064	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	851	42	109	0	ENST00000306433.4:c.475G>T	p.Glu159Ter	p.E159*	ENST00000306433	NM_001722.2	159	Gag/Tag	0	A:0	A:0	.	A:0	.	T	E/*	protein_coding	YES	CCDS34858.1	475	MUTECT|MUSE	.	TGCTGGAGAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR13408:SF2,hmmpanther:PTHR13408	A:0	A:0.0005	ENSP00000380904	A:0.001	4/8	.	.	.	.	.	.	.	.	rs199704064	4/8	PASS	ENST00000397802	Transcript	.	A:0.0002	ENSG00000168495	1080	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	RPC4_HUMAN	POLR3D	HGNC	E5RHT4_HUMAN,D3DSR2_HUMAN	.	UPI000006CE69	SNV	POLR3D,stop_gained,p.Glu159Ter,ENST00000397802,;POLR3D,stop_gained,p.Glu159Ter,ENST00000519237,;POLR3D,stop_gained,p.Glu159Ter,ENST00000306433,;MIR320A,upstream_gene_variant,,ENST00000385302,;POLR3D,non_coding_transcript_exon_variant,,ENST00000517789,;POLR3D,intron_variant,,ENST00000518039,;	690	109	893	SUCCESS
KIAA1958	158405	.	GRCh37	9	115421771	115421771	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759469555	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	63	104	0	ENST00000337530.6:c.1573G>A	p.Ala525Thr	p.A525T	ENST00000337530	NM_001287038.1	525	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS35108.1	1573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCGCGT	NONE	.	.	hmmpanther:PTHR11697:SF98,hmmpanther:PTHR11697	.	.	ENSP00000336940	.	4/4	.	.	.	.	.	.	.	.	rs759469555	4/4	PASS	ENST00000337530	Transcript	.	.	ENSG00000165185	23427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.71)	.	K1958_HUMAN	KIAA1958	HGNC	.	.	UPI000007327E	SNV	KIAA1958,missense_variant,p.Ala553Thr,ENST00000536272,;KIAA1958,missense_variant,p.Ala525Thr,ENST00000337530,;	1869	104	147	SUCCESS
MRPS2	51116	.	GRCh37	9	138392921	138392921	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	63	0	ENST00000241600.5:c.121C>T	p.Leu41Phe	p.L41F	ENST00000241600	NM_016034.4	41	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS6990.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGCTTGGA	NONE	.	.	hmmpanther:PTHR12534,hmmpanther:PTHR12534:SF0	.	.	ENSP00000360850	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000371785	Transcript	.	.	ENSG00000122140	14495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.21)	.	RT02_HUMAN	MRPS2	HGNC	Q96Q47_HUMAN	.	UPI000013522F	SNV	MRPS2,missense_variant,p.Leu55Phe,ENST00000453385,;MRPS2,missense_variant,p.Leu41Phe,ENST00000241600,;MRPS2,missense_variant,p.Leu41Phe,ENST00000371785,;C9orf116,intron_variant,,ENST00000371791,;C9orf116,upstream_gene_variant,,ENST00000419770,;C9orf116,upstream_gene_variant,,ENST00000371789,;C9orf116,upstream_gene_variant,,ENST00000429260,;RP11-426A6.5,downstream_gene_variant,,ENST00000415062,;MRPS2,non_coding_transcript_exon_variant,,ENST00000488610,;MRPS2,non_coding_transcript_exon_variant,,ENST00000472852,;MRPS2,non_coding_transcript_exon_variant,,ENST00000462948,;MRPS2,non_coding_transcript_exon_variant,,ENST00000485333,;MRPS2,upstream_gene_variant,,ENST00000472946,;C9orf116,upstream_gene_variant,,ENST00000371786,;	330	63	84	SUCCESS
PTGDS	5730	.	GRCh37	9	139873558	139873558	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	61	0	ENST00000371625.3:c.228C>A	p.Gly76=	p.G76=	ENST00000371625	NM_000954.5	76	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7019.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCTCAA	NONE	.	.	hmmpanther:PTHR11430:SF64,hmmpanther:PTHR11430,Pfam_domain:PF00061,Gene3D:2.40.128.20,Superfamily_domains:SSF50814,Prints_domain:PR01254	.	.	ENSP00000360687	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000371625	Transcript	.	.	ENSG00000107317	9592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTGDS_HUMAN	PTGDS	HGNC	.	.	UPI00001317A4	SNV	PTGDS,synonymous_variant,p.%3D,ENST00000371623,;PTGDS,synonymous_variant,p.%3D,ENST00000224167,;PTGDS,synonymous_variant,p.%3D,ENST00000446677,;PTGDS,synonymous_variant,p.%3D,ENST00000457950,;PTGDS,synonymous_variant,p.%3D,ENST00000371625,;PTGDS,upstream_gene_variant,,ENST00000444903,;LCNL1,upstream_gene_variant,,ENST00000408973,;PTGDS,non_coding_transcript_exon_variant,,ENST00000460340,;PTGDS,non_coding_transcript_exon_variant,,ENST00000492068,;PTGDS,upstream_gene_variant,,ENST00000462514,;LCNL1,upstream_gene_variant,,ENST00000432827,;RP11-229P13.19,downstream_gene_variant,,ENST00000413913,;PTGDS,upstream_gene_variant,,ENST00000467871,;PTGDS,synonymous_variant,p.%3D,ENST00000471521,;LCNL1,upstream_gene_variant,,ENST00000460177,;LCNL1,upstream_gene_variant,,ENST00000482657,;	302	61	74	SUCCESS
SMARCA2	6595	.	GRCh37	9	2097384	2097384	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	46	0	ENST00000349721.2:c.2992-1G>T		p.X998_splice	ENST00000349721	NM_003070.3	998		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34977.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGGGGAA	NONE	.	.	.	.	.	ENSP00000371638	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	HIGH	20/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,splice_acceptor_variant,,ENST00000382194,;SMARCA2,splice_acceptor_variant,,ENST00000382203,;SMARCA2,splice_acceptor_variant,,ENST00000357248,;SMARCA2,splice_acceptor_variant,,ENST00000349721,;	.	46	76	SUCCESS
SMARCA2	6595	.	GRCh37	9	2097385	2097385	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	46	0	ENST00000349721.2:c.2992G>C	p.Gly998Arg	p.G998R	ENST00000349721	NM_003070.3	998	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS34977.1	2992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGGGGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF541,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540	.	.	ENSP00000371638	.	21/34	.	.	.	.	.	.	.	.	.	21/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.384)	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,missense_variant,p.Gly998Arg,ENST00000382194,;SMARCA2,missense_variant,p.Gly998Arg,ENST00000382203,;SMARCA2,missense_variant,p.Gly998Arg,ENST00000357248,;SMARCA2,missense_variant,p.Gly998Arg,ENST00000349721,;	3201	46	76	SUCCESS
VCP	7415	.	GRCh37	9	35068346	35068346	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs932872788	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	51	0	ENST00000358901.6:c.31G>A	p.Asp11Asn	p.D11N	ENST00000358901	NM_007126.3	11	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6573.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTCATCAC	NONE	.	.	Gene3D:2.40.40.20,hmmpanther:PTHR23077:SF69,hmmpanther:PTHR23077	.	.	ENSP00000351777	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000358901	Transcript	.	.	ENSG00000165280	12666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.05)	.	TERA_HUMAN	VCP	HGNC	Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN	.	UPI000005FB2E	SNV	VCP,missense_variant,p.Asp11Asn,ENST00000358901,;VCP,5_prime_UTR_variant,,ENST00000417448,;VCP,5_prime_UTR_variant,,ENST00000448530,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;	927	51	87	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39100015	39100015	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1294052650	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	47	129	0	ENST00000297668.6:c.2888G>T	p.Ser963Ile	p.S963I	ENST00000297668	NM_033655.3	963	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS6616.1	2888	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCTGCAG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000297668	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,missense_variant,p.Ser875Ile,ENST00000358144,;CNTNAP3,missense_variant,p.Ser963Ile,ENST00000297668,;CNTNAP3,intron_variant,,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000483502,;CNTNAP3,downstream_gene_variant,,ENST00000495573,;CNTNAP3,downstream_gene_variant,,ENST00000448573,;CNTNAP3,downstream_gene_variant,,ENST00000443583,;	2962	129	129	SUCCESS
KIAA2026	158358	.	GRCh37	9	5923025	5923025	+	synonymous_variant	Silent	SNP	A	A	G	rs746159415	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	58	137	0	ENST00000399933.3:c.2971T>C	p.Leu991=	p.L991=	ENST00000399933	NM_001017969.2	991	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	.	2971	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAATGAGG	NONE	byFrequency	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	rs746159415	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,synonymous_variant,p.%3D,ENST00000381461,;KIAA2026,synonymous_variant,p.%3D,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	2971	137	159	SUCCESS
ERCC6L2	375748	.	GRCh37	9	98638251	98638251	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	24	0	ENST00000288985.7:c.-37G>T		p.*13*	ENST00000288985	NM_001010895.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35072.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGCCACC	NONE	.	.	.	.	.	ENSP00000288985	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000288985	Transcript	.	.	ENSG00000182150	26922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAD26_HUMAN	ERCC6L2	HGNC	.	.	UPI000046FE3C	SNV	ERCC6L2,5_prime_UTR_variant,,ENST00000288985,;LINC00476,non_coding_transcript_exon_variant,,ENST00000412446,;LINC00476,non_coding_transcript_exon_variant,,ENST00000321517,;LINC00476,upstream_gene_variant,,ENST00000427259,;LINC00476,upstream_gene_variant,,ENST00000433656,;LINC00476,upstream_gene_variant,,ENST00000429781,;LINC00476,upstream_gene_variant,,ENST00000448465,;ERCC6L2,upstream_gene_variant,,ENST00000466840,;	269	24	25	SUCCESS
NXF3	56000	.	GRCh37	X	102334693	102334693	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	54	100	0	ENST00000395065.3:c.1158C>T		p.X386_splice	ENST00000395065	NM_022052.1	386	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14503.1	1158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGGGCTGA	NONE	.	.	PROSITE_profiles:PS50177,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,synonymous_variant,p.%3D,ENST00000395065,;NXF3,synonymous_variant,p.%3D,ENST00000427570,;NXF3,synonymous_variant,p.%3D,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,splice_region_variant,,ENST00000494300,;NXF3,splice_region_variant,,ENST00000497850,;NXF3,splice_region_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000468528,;	1260	100	72	SUCCESS
ZNF645	0	.	GRCh37	X	22291221	22291221	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760806744	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	67	97	0	ENST00000323684.1:c.113G>T	p.Trp38Leu	p.W38L	ENST00000323684	NM_152577.3	38	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS14205.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1	.	.	ENSP00000323348	.	1/1	.	.	.	.	.	.	.	.	rs760806744	1/1	PASS	ENST00000323684	Transcript	.	.	ENSG00000175809	26371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.2)	.	ZN645_HUMAN	ZNF645	HGNC	.	.	UPI0000073BD5	SNV	ZNF645,missense_variant,p.Trp38Leu,ENST00000323684,;RP11-40F8.2,intron_variant,,ENST00000608254,;	157	98	85	SUCCESS
DMD	1756	.	GRCh37	X	32834720	32834720	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs751455994	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	55	100	0	ENST00000357033.4:c.395A>T	p.Gln132Leu	p.Q132L	ENST00000357033	NM_004007.2	132	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS14233.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTGCAAT	NONE	byFrequency	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47576	.	.	ENSP00000354923	.	6/79	.	.	.	.	.	.	.	.	rs751455994	6/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Gln132Leu,ENST00000357033,;DMD,missense_variant,p.Gln128Leu,ENST00000378677,;DMD,missense_variant,p.Gln124Leu,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000488902,;DMD,upstream_gene_variant,,ENST00000480751,;	602	100	85	SUCCESS
FAM171A1	221061	.	GRCh37	10	15290660	15290660	+	synonymous_variant	Silent	SNP	C	C	A	rs151163427	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	104	0	ENST00000378116.4:c.732G>T	p.Ala244=	p.A244=	ENST00000378116	NM_001010924.1	244	gcG/gcT	0	T:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS31154.1	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCACGCCGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	T:0.0005	ENSP00000367356	.	5/8	.	.	.	.	.	.	.	.	rs151163427,COSM3709836,COSM3709835	5/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,synonymous_variant,p.%3D,ENST00000378116,;FAM171A1,synonymous_variant,p.%3D,ENST00000455654,;FAM171A1,non_coding_transcript_exon_variant,,ENST00000477161,;	739	104	72	SUCCESS
MYO3A	53904	.	GRCh37	10	26455035	26455035	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	72	0	ENST00000265944.5:c.3039C>G	p.Arg1013=	p.R1013=	ENST00000265944	NM_017433.4	1013	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS7148.1	3039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGCATGAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	27/35	.	.	.	.	.	.	.	.	.	27/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,synonymous_variant,p.%3D,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;MYO3A,non_coding_transcript_exon_variant,,ENST00000477691,;	3205	72	41	SUCCESS
DLG5	9231	.	GRCh37	10	79569437	79569437	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	54	220	0	ENST00000372391.2:c.4515C>T	p.Ile1505=	p.I1505=	ENST00000372391	NM_004747.3	1505	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7353.2	4515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGATGAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR13865,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000361467	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,synonymous_variant,p.%3D,ENST00000424842,;DLG5,synonymous_variant,p.%3D,ENST00000372388,;DLG5,synonymous_variant,p.%3D,ENST00000372391,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000489547,;DLG5,upstream_gene_variant,,ENST00000484525,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;	4521	220	197	SUCCESS
HECTD2	143279	.	GRCh37	10	93252211	93252211	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	35	67	0	ENST00000298068.5:c.1402C>G	p.Leu468Val	p.L468V	ENST00000298068	NM_182765.3	468	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS7414.1	1402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCTAATT	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF69,PROSITE_profiles:PS50237	.	.	ENSP00000298068	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000298068	Transcript	.	.	ENSG00000165338	26736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.05)	.	HECD2_HUMAN	HECTD2	HGNC	B3KV18_HUMAN	.	UPI0000246D14	SNV	HECTD2,missense_variant,p.Leu468Val,ENST00000298068,;HECTD2,missense_variant,p.Leu57Val,ENST00000536715,;HECTD2,missense_variant,p.Leu472Val,ENST00000446394,;HECTD2,missense_variant,p.Leu118Val,ENST00000371667,;HECTD2,downstream_gene_variant,,ENST00000498446,;	1496	67	97	SUCCESS
CASP4	837	.	GRCh37	11	104819283	104819283	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	73	0	ENST00000444739.2:c.902T>C	p.Ile301Thr	p.I301T	ENST00000444739	NM_001225.3	301	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS8327.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAATGAAG	NONE	.	.	PROSITE_profiles:PS50207,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF137,Pfam_domain:PF00656,Gene3D:3.40.50.1460,PIRSF_domain:PIRSF038001,SMART_domains:SM00115,Superfamily_domains:SSF52129	.	.	ENSP00000388566	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000444739	Transcript	.	.	ENSG00000196954	1505	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CASP4_HUMAN	CASP4	HGNC	Q7KYX7_HUMAN,E9PMT1_HUMAN	.	UPI000003AEFA	SNV	CASP4,missense_variant,p.Ile245Thr,ENST00000393150,;CASP4,missense_variant,p.Ile301Thr,ENST00000444739,;CASP4,downstream_gene_variant,,ENST00000417440,;CASP4,upstream_gene_variant,,ENST00000533252,;CASP4,downstream_gene_variant,,ENST00000531333,;CASP4,downstream_gene_variant,,ENST00000529183,;CASP4,non_coding_transcript_exon_variant,,ENST00000534356,;CASP4,non_coding_transcript_exon_variant,,ENST00000533730,;CASP4,non_coding_transcript_exon_variant,,ENST00000525116,;CASP4,non_coding_transcript_exon_variant,,ENST00000529565,;CASP4,downstream_gene_variant,,ENST00000531546,;CASP4,downstream_gene_variant,,ENST00000524843,;CASP4,upstream_gene_variant,,ENST00000530309,;	1813	73	44	SUCCESS
CASP5	838	.	GRCh37	11	104872821	104872821	+	synonymous_variant	Silent	SNP	C	C	A	rs904512432	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	110	0	ENST00000260315.3:c.651G>T	p.Val217=	p.V217=	ENST00000260315		217	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44720.1	690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCACGAT	NONE	.	.	PROSITE_profiles:PS50208,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF137,Pfam_domain:PF00656,Gene3D:3.40.50.1460,PIRSF_domain:PIRSF038001,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376	.	.	ENSP00000376849	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000393141	Transcript	.	.	ENSG00000137757	1506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASP5_HUMAN	CASP5	HGNC	C9JF14_HUMAN	.	UPI0001824645	SNV	CASP5,synonymous_variant,p.%3D,ENST00000531367,;CASP5,synonymous_variant,p.%3D,ENST00000444749,;CASP5,synonymous_variant,p.%3D,ENST00000418434,;CASP5,synonymous_variant,p.%3D,ENST00000260315,;CASP5,synonymous_variant,p.%3D,ENST00000393141,;CASP5,synonymous_variant,p.%3D,ENST00000526056,;CASP5,3_prime_UTR_variant,,ENST00000393139,;CASP5,downstream_gene_variant,,ENST00000456094,;CASP5,3_prime_UTR_variant,,ENST00000456200,;CASP5,upstream_gene_variant,,ENST00000438448,;	722	110	87	SUCCESS
PDZD3	79849	.	GRCh37	11	119059407	119059407	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	165	0	ENST00000531114.1:c.1316G>C	p.Gly439Ala	p.G439A	ENST00000531114		439	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS53719.1	1118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14191:SF5,hmmpanther:PTHR14191	.	.	ENSP00000347742	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000355547	Transcript	.	.	ENSG00000172367	19891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.8)	.	NHRF4_HUMAN	PDZD3	HGNC	.	.	UPI000007079F	SNV	PDZD3,missense_variant,p.Gly360Ala,ENST00000525131,;PDZD3,missense_variant,p.Gly439Ala,ENST00000392817,;PDZD3,missense_variant,p.Gly359Ala,ENST00000322712,;PDZD3,missense_variant,p.Gly373Ala,ENST00000355547,;PDZD3,missense_variant,p.Gly439Ala,ENST00000531114,;NLRX1,downstream_gene_variant,,ENST00000292199,;NLRX1,downstream_gene_variant,,ENST00000409991,;NLRX1,downstream_gene_variant,,ENST00000409265,;CCDC153,downstream_gene_variant,,ENST00000415318,;NLRX1,downstream_gene_variant,,ENST00000525863,;NLRX1,downstream_gene_variant,,ENST00000409109,;CCDC153,downstream_gene_variant,,ENST00000503566,;PDZD3,non_coding_transcript_exon_variant,,ENST00000529098,;PDZD3,non_coding_transcript_exon_variant,,ENST00000527028,;PDZD3,non_coding_transcript_exon_variant,,ENST00000534790,;PDZD3,downstream_gene_variant,,ENST00000526279,;PDZD3,downstream_gene_variant,,ENST00000527308,;PDZD3,downstream_gene_variant,,ENST00000529573,;CCDC153,downstream_gene_variant,,ENST00000375140,;PDZD3,downstream_gene_variant,,ENST00000526836,;PDZD3,downstream_gene_variant,,ENST00000527951,;PDZD3,downstream_gene_variant,,ENST00000528730,;PDZD3,downstream_gene_variant,,ENST00000533688,;	1133	165	96	SUCCESS
GRIK4	2900	.	GRCh37	11	120811107	120811107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	69	0	ENST00000438375.2:c.1528G>T	p.Val510Leu	p.V510L	ENST00000438375	NM_014619.2	510	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS8433.1	1528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGTGATT	NONE	.	.	hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000435648	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000527524	Transcript	.	.	ENSG00000149403	4582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	deleterious(0.04)	.	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,missense_variant,p.Val510Leu,ENST00000438375,;GRIK4,missense_variant,p.Val510Leu,ENST00000527524,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;HMGB1P42,upstream_gene_variant,,ENST00000532126,;	1815	69	48	SUCCESS
SLC6A5	9152	.	GRCh37	11	20622906	20622906	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	23	0	ENST00000525748.1:c.235T>A	p.Ser79Thr	p.S79T	ENST00000525748	NM_004211.3	79	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS7854.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGTCTTGC	NONE	.	.	.	.	.	ENSP00000434364	.	2/16	.	.	.	.	.	.	.	.	COSM4032046	2/16	PASS	ENST00000525748	Transcript	.	.	ENSG00000165970	11051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated_low_confidence(0.55)	1	SC6A5_HUMAN	SLC6A5	HGNC	.	.	UPI00004564A5	SNV	SLC6A5,missense_variant,p.Ser79Thr,ENST00000525748,;SLC6A5,missense_variant,p.Ser79Thr,ENST00000298923,;	508	23	15	SUCCESS
PAMR1	25891	.	GRCh37	11	35513688	35513688	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs377041707	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	65	0	ENST00000278360.3:c.284G>T	p.Arg95Leu	p.R95L	ENST00000278360	NM_015430.2	95	cGa/cTa	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS7898.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCGGCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24254:SF7,hmmpanther:PTHR24254,SMART_domains:SM00181	.	T:0.0001	ENSP00000278360	.	3/12	.	.	.	.	.	.	.	.	rs377041707	3/12	PASS	ENST00000278360	Transcript	.	.	ENSG00000149090	24554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0.02)	.	PAMR1_HUMAN	PAMR1	HGNC	E9PQ70_HUMAN	.	UPI000013DB70	SNV	PAMR1,missense_variant,p.Arg55Leu,ENST00000532848,;PAMR1,missense_variant,p.Arg95Leu,ENST00000378880,;PAMR1,missense_variant,p.Arg55Leu,ENST00000527605,;PAMR1,missense_variant,p.Arg95Leu,ENST00000378878,;PAMR1,missense_variant,p.Arg95Leu,ENST00000278360,;PAMR1,missense_variant,p.Arg95Leu,ENST00000529303,;PAMR1,non_coding_transcript_exon_variant,,ENST00000534803,;	322	65	68	SUCCESS
OR4P4	81300	.	GRCh37	11	55405983	55405983	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	62	0	ENST00000314612.2:c.150C>A	p.Thr50=	p.T50=	ENST00000314612	NM_001004124.1	50	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31504.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACCCAGCT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,PROSITE_profiles:PS50262	.	.	ENSP00000324831	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314612	Transcript	.	.	ENSG00000181927	15180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4P4_HUMAN	OR4P4	HGNC	.	.	UPI0000061E8A	SNV	OR4P4,synonymous_variant,p.%3D,ENST00000314612,;	150	62	66	SUCCESS
DNHD1	144132	.	GRCh37	11	6550235	6550235	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	89	0	ENST00000254579.6:c.2231T>A	p.Val744Glu	p.V744E	ENST00000254579	NM_144666.2	744	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS44532.1	2231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGTGACGC	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	12/43	.	.	.	.	.	.	.	.	.	12/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Val744Glu,ENST00000527990,;DNHD1,missense_variant,p.Val744Glu,ENST00000254579,;DNHD1,non_coding_transcript_exon_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000532027,;	2795	89	71	SUCCESS
DCHS1	8642	.	GRCh37	11	6644337	6644337	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	31	0	ENST00000299441.3:c.8570C>A	p.Pro2857His	p.P2857H	ENST00000299441	NM_003737.2	2857	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS7771.1	8570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGGGGGAA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Pro2857His,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	8982	31	40	SUCCESS
SRSF8	10929	.	GRCh37	11	94801037	94801037	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs573470678	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	36	62	0	ENST00000529911.1:c.647T>C	p.Leu216Pro	p.L216P	ENST00000529911	NM_032102.3	216	cTa/cCa	0	.	C:0	.	C:0	.	C	L/P	polymorphic_pseudogene	YES	.	647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTAGCTC	NONE	byFrequency|by1000G	.	.	C:0.003	.	ENSP00000475842	C:0	1/1	.	.	.	.	.	.	.	.	rs573470678	1/1	common_in_exac	ENST00000529911	Transcript	.	C:0.0006	ENSG00000271885	16988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0	tolerated_low_confidence(0.19)	.	.	SRSF8	Clone_based_vega_gene	.	.	.	SNV	SRSF8,missense_variant,p.Leu216Pro,ENST00000529911,;SRSF8,non_coding_transcript_exon_variant,,ENST00000446101,;	677	62	53	SUCCESS
SCYL2	55681	.	GRCh37	12	100722976	100722976	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs777853654	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	30	0	ENST00000360820.2:c.1643-3C>T		p.X548_splice	ENST00000360820	NM_017988.4	548		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9076.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCAGGTA	NONE	.	.	.	.	.	ENSP00000354061	.	.	.	.	.	.	.	.	.	.	rs777853654	.	PASS	ENST00000360820	Transcript	.	.	ENSG00000136021	19286	.	.	LOW	12/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCYL2_HUMAN	SCYL2	HGNC	F8VSC5_HUMAN,F8VPW3_HUMAN	.	UPI000004FD59	SNV	SCYL2,splice_region_variant,,ENST00000360820,;SCYL2,splice_region_variant,,ENST00000549687,;SCYL2,splice_region_variant,,ENST00000548871,;SCYL2,upstream_gene_variant,,ENST00000547202,;SCYL2,downstream_gene_variant,,ENST00000550251,;	.	30	28	SUCCESS
HCFC2	29915	.	GRCh37	12	104480666	104480666	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	83	0	ENST00000229330.4:c.1105A>G	p.Thr369Ala	p.T369A	ENST00000229330	NM_013320.2	369	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS9097.1	1105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCACTACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23244:SF288,hmmpanther:PTHR23244,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000229330	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000229330	Transcript	.	.	ENSG00000111727	24972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.02)	.	HCFC2_HUMAN	HCFC2	HGNC	F8VU09_HUMAN	.	UPI000006CF31	SNV	HCFC2,missense_variant,p.Thr369Ala,ENST00000229330,;HCFC2,upstream_gene_variant,,ENST00000550335,;HCFC2,missense_variant,p.Thr369Ala,ENST00000544223,;HCFC2,downstream_gene_variant,,ENST00000547194,;	1209	83	108	SUCCESS
MVK	4598	.	GRCh37	12	110032905	110032905	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	70	0	ENST00000228510.3:c.958C>A	p.Gln320Lys	p.Q320K	ENST00000228510	NM_001114185.1	320	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS9132.1	958	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCAGGTG	NONE	.	.	hmmpanther:PTHR10457:SF4,hmmpanther:PTHR10457,Pfam_domain:PF08544,Gene3D:3.30.70.890,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF55060	.	.	ENSP00000228510	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000228510	Transcript	.	.	ENSG00000110921	7530	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	tolerated(0.11)	.	KIME_HUMAN	MVK	HGNC	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN	.	UPI000012DE5B	SNV	MVK,missense_variant,p.Gln39Lys,ENST00000539696,;MVK,missense_variant,p.Gln268Lys,ENST00000392727,;MVK,missense_variant,p.Gln320Lys,ENST00000228510,;MVK,missense_variant,p.Gln268Lys,ENST00000539575,;MVK,missense_variant,p.Gln126Lys,ENST00000541384,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,3_prime_UTR_variant,,ENST00000447878,;MVK,non_coding_transcript_exon_variant,,ENST00000540353,;	1034	70	47	SUCCESS
C12orf76	400073	.	GRCh37	12	110503715	110503715	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	63	0	ENST00000309050.5:c.-36G>A		p.*12*	ENST00000309050	NM_207435.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9141.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCTTTGC	NONE	.	.	.	.	.	ENSP00000308368	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000309050	Transcript	.	.	ENSG00000174456	33790	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL076_HUMAN	C12orf76	HGNC	.	.	UPI00000732B3	SNV	C12orf76,5_prime_UTR_variant,,ENST00000309050,;C12orf76,intron_variant,,ENST00000548191,;C12orf76,intron_variant,,ENST00000548936,;	330	63	80	SUCCESS
ERC1	23085	.	GRCh37	12	1192448	1192448	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	69	0	ENST00000360905.4:c.788C>G	p.Thr263Arg	p.T263R	ENST00000360905		263	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS8508.1	788	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACAGAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Pfam_domain:PF10174	.	.	ENSP00000380386	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0.02)	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,missense_variant,p.Thr263Arg,ENST00000546231,;ERC1,missense_variant,p.Thr112Arg,ENST00000592048,;ERC1,missense_variant,p.Thr263Arg,ENST00000360905,;ERC1,missense_variant,p.Thr263Arg,ENST00000589028,;ERC1,missense_variant,p.Thr263Arg,ENST00000397203,;ERC1,missense_variant,p.Thr263Arg,ENST00000543086,;ERC1,missense_variant,p.Thr263Arg,ENST00000355446,;ERC1,upstream_gene_variant,,ENST00000536573,;ERC1,missense_variant,p.Thr263Arg,ENST00000542302,;ERC1,missense_variant,p.Thr263Arg,ENST00000440394,;ERC1,missense_variant,p.Thr263Arg,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,intron_variant,,ENST00000545948,;ERC1,upstream_gene_variant,,ENST00000539007,;	1194	69	99	SUCCESS
RHOF	54509	.	GRCh37	12	122218747	122218747	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	23	0	ENST00000267205.2:c.471+31C>A		p.*157*	ENST00000267205	NM_019034.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9222.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGCTGTG	NONE	.	.	.	.	.	ENSP00000267205	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267205	Transcript	.	.	ENSG00000139725	15703	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOF_HUMAN	RHOF	HGNC	.	.	UPI0000133891	SNV	RHOF,missense_variant,p.Pro168Thr,ENST00000537171,;TMEM120B,3_prime_UTR_variant,,ENST00000449592,;RHOF,intron_variant,,ENST00000267205,;RHOF,intron_variant,,ENST00000546227,;RHOF,intron_variant,,ENST00000537265,;RHOF,downstream_gene_variant,,ENST00000535560,;RHOF,downstream_gene_variant,,ENST00000541657,;TMEM120B,downstream_gene_variant,,ENST00000541467,;TMEM120B,downstream_gene_variant,,ENST00000540377,;TMEM120B,intron_variant,,ENST00000538055,;TMEM120B,downstream_gene_variant,,ENST00000416147,;TMEM120B,downstream_gene_variant,,ENST00000411958,;TMEM120B,downstream_gene_variant,,ENST00000342607,;	.	23	27	SUCCESS
TMEM132D	121256	.	GRCh37	12	130015669	130015669	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	53	0	ENST00000422113.2:c.1050T>A	p.Asp350Glu	p.D350E	ENST00000422113	NM_133448.2	350	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS9266.1	1050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATAATCCGT	NONE	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(1)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Asp350Glu,ENST00000422113,;	1377	53	45	SUCCESS
ITPR2	3709	.	GRCh37	12	26752255	26752255	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	81	0	ENST00000381340.3:c.3825G>A	p.Arg1275=	p.R1275=	ENST00000381340	NM_002223.2	1275	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS41764.1	3825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGCCGCAT	NONE	.	.	hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280,Superfamily_domains:SSF48371	.	.	ENSP00000370744	.	30/57	.	.	.	.	.	.	.	.	.	30/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,synonymous_variant,p.%3D,ENST00000381340,;	4242	81	79	SUCCESS
LRRK2	120892	.	GRCh37	12	40740721	40740721	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	40	0	ENST00000298910.7:c.6276A>T	p.Leu2092Phe	p.L2092F	ENST00000298910	NM_198578.3	2092	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31774.1	6276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTACCTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000298910	.	42/51	.	.	.	.	.	.	.	.	.	42/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Leu2092Phe,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	6334	40	40	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43769295	43769295	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	84	0	ENST00000389420.3:c.5333G>A	p.Cys1778Tyr	p.C1778Y	ENST00000389420	NM_025003.3	1778	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31778.2	5333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACATTGA	NONE	.	.	PROSITE_profiles:PS51046,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF08685	.	.	ENSP00000374071	.	36/39	.	.	.	.	.	.	.	.	.	36/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Cys1778Tyr,ENST00000389420,;	5333	84	77	SUCCESS
AMIGO2	347902	.	GRCh37	12	47471425	47471425	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	19	125	0	ENST00000266581.4:c.1361C>T	p.Ser454Phe	p.S454F	ENST00000266581	NM_181847.4	454	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS8751.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGAGGCA	NONE	.	.	hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF209	.	.	ENSP00000266581	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000266581	Transcript	.	.	ENSG00000139211	24073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.06)	.	AMGO2_HUMAN	AMIGO2	HGNC	B3KS95_HUMAN	.	UPI000000DC21	SNV	AMIGO2,missense_variant,p.Ser454Phe,ENST00000266581,;AMIGO2,missense_variant,p.Ser454Phe,ENST00000429635,;AMIGO2,missense_variant,p.Ser454Phe,ENST00000550413,;AMIGO2,missense_variant,p.Ser454Phe,ENST00000321382,;PCED1B,upstream_gene_variant,,ENST00000546455,;	1828	125	119	SUCCESS
DNAJC22	79962	.	GRCh37	12	49743205	49743205	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs746978369	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	36	0	ENST00000395069.3:c.550C>G	p.Arg184Gly	p.R184G	ENST00000395069	NM_024902.2	184	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8785.1	550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCGTCTG	NONE	.	.	.	.	.	ENSP00000446830	.	3/4	.	.	.	.	.	.	.	.	rs746978369	3/4	PASS	ENST00000549441	Transcript	.	.	ENSG00000178401	25802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.32)	.	DJC22_HUMAN	DNAJC22	HGNC	.	.	UPI000006D2CC	SNV	DNAJC22,missense_variant,p.Arg184Gly,ENST00000395069,;DNAJC22,missense_variant,p.Arg184Gly,ENST00000549441,;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,upstream_gene_variant,,ENST00000551153,;	1754	36	40	SUCCESS
LARP4	113251	.	GRCh37	12	50869325	50869325	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	98	0	ENST00000398473.2:c.1853G>T	p.Ser618Ile	p.S618I	ENST00000398473	NM_199188.2	618	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS41782.1	1853	RADIA|MUTECT|MUSE|VARSCANS	.	GTTAAGTTATG	NONE	.	.	hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792	.	.	ENSP00000381490	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000398473	Transcript	.	.	ENSG00000161813	24320	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.12)	.	deleterious(0.02)	.	LARP4_HUMAN	LARP4	HGNC	Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN	.	UPI00002293C3	SNV	LARP4,missense_variant,p.Ser385Ile,ENST00000520064,;LARP4,missense_variant,p.Ser618Ile,ENST00000398473,;LARP4,missense_variant,p.Ser547Ile,ENST00000293618,;LARP4,missense_variant,p.Ser547Ile,ENST00000347328,;LARP4,missense_variant,p.Ser624Ile,ENST00000429001,;LARP4,missense_variant,p.Ser617Ile,ENST00000518444,;	1965	98	75	SUCCESS
SCN8A	6334	.	GRCh37	12	52056683	52056683	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768570935	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	90	0	ENST00000354534.6:c.82C>T	p.Arg28Cys	p.R28C	ENST00000354534	NM_014191.3	28	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS44891.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCGCATT	NONE	byFrequency	.	.	.	.	ENSP00000346534	.	2/27	.	.	.	.	.	.	.	.	rs768570935	2/27	PASS	ENST00000354534	Transcript	.	.	ENSG00000196876	10596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.726)	.	deleterious(0.04)	.	SCN8A_HUMAN	SCN8A	HGNC	Q9P2Q6_HUMAN,Q8WWN3_HUMAN	.	UPI000006FD85	SNV	SCN8A,missense_variant,p.Arg28Cys,ENST00000550891,;SCN8A,missense_variant,p.Arg28Cys,ENST00000354534,;SCN8A,missense_variant,p.Arg28Cys,ENST00000355133,;SCN8A,missense_variant,p.Arg28Cys,ENST00000545061,;SCN8A,downstream_gene_variant,,ENST00000546961,;	260	90	75	SUCCESS
GPR84	53831	.	GRCh37	12	54757483	54757483	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	65	0	ENST00000267015.3:c.153C>G	p.Leu51=	p.L51=	ENST00000267015	NM_020370.2	51	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS8878.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACGGAGCTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF59,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000450310	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000551809	Transcript	.	.	ENSG00000139572	4535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,synonymous_variant,p.%3D,ENST00000551809,;GPR84,synonymous_variant,p.%3D,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	789	65	62	SUCCESS
LACRT	90070	.	GRCh37	12	55024698	55024698	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	11	120	0	ENST00000257867.4:c.395G>A	p.Ser132Asn	p.S132N	ENST00000257867	NM_033277.1	132	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS8883.1	395	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGACTGAAT	NONE	.	.	.	.	.	ENSP00000257867	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000257867	Transcript	.	.	ENSG00000135413	16430	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.383)	.	tolerated_low_confidence(0.39)	.	LACRT_HUMAN	LACRT	HGNC	.	.	UPI0000038CCC	SNV	LACRT,missense_variant,p.Ser132Asn,ENST00000257867,;LACRT,missense_variant,p.Ser121Asn,ENST00000547511,;LACRT,3_prime_UTR_variant,,ENST00000546721,;LACRT,downstream_gene_variant,,ENST00000549816,;	449	120	114	SUCCESS
CCDC168	643677	.	GRCh37	13	103388308	103388308	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	38	0	ENST00000322527.2:c.852C>T	p.Cys284=	p.C284=	ENST00000322527	NM_001146197.1	284	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	.	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTGCATAG	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,synonymous_variant,p.%3D,ENST00000322527,;	852	38	22	SUCCESS
AKAP11	11215	.	GRCh37	13	42875560	42875560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	66	0	ENST00000025301.2:c.2678C>T	p.Ser893Leu	p.S893L	ENST00000025301	NM_016248.3	893	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS9383.1	2678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCATTGG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0.01)	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,missense_variant,p.Ser893Leu,ENST00000025301,;	2853	66	49	SUCCESS
LMO7	4008	.	GRCh37	13	76334909	76334909	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs751760849	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	14	0	ENST00000465261.2:c.-648A>T		p.*216*	ENST00000465261	NM_015842.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53876.1	.	MUTECT|MUSE	.	GCCCTATGTAT	NONE	byFrequency	.	.	.	.	ENSP00000433352	.	1/27	.	.	.	.	.	.	.	.	rs751760849	1/27	PASS	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Tyr12Phe,ENST00000526202,;LMO7,5_prime_UTR_variant,,ENST00000465261,;LMO7,intron_variant,,ENST00000357063,;LMO7,intron_variant,,ENST00000534657,;LMO7,intron_variant,,ENST00000321797,;LMO7,intron_variant,,ENST00000341547,;LMO7,intron_variant,,ENST00000377534,;LMO7,intron_variant,,ENST00000377499,;LMO7,intron_variant,,ENST00000533305,;RP11-29G8.3,intron_variant,,ENST00000563635,;LMO7,intron_variant,,ENST00000465309,;	113	14	14	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102508727	102508727	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	46	0	ENST00000360184.4:c.12282G>A	p.Val4094=	p.V4094=	ENST00000360184	NM_001376.4	4094	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9966.1	12282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGATGCT	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000348965	.	68/78	.	.	.	.	.	.	.	.	.	68/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;DYNC1H1,downstream_gene_variant,,ENST00000553423,;RP11-1017G21.4,intron_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000553701,;RP11-1017G21.4,intron_variant,,ENST00000557242,;DYNC1H1,upstream_gene_variant,,ENST00000555102,;DYNC1H1,downstream_gene_variant,,ENST00000556791,;DYNC1H1,downstream_gene_variant,,ENST00000555800,;DYNC1H1,downstream_gene_variant,,ENST00000556499,;DYNC1H1,downstream_gene_variant,,ENST00000556139,;	12446	46	54	SUCCESS
IGHV7-81	28378	.	GRCh37	14	107283189	107283189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	24	103	0	ENST00000390639.2:c.38C>A	p.Ala13Glu	p.A13E	ENST00000390639		13	gCa/gAa	0	.	.	.	.	.	T	A/E	IG_V_gene	YES	.	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTGCTGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF85	.	.	ENSP00000375048	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000390639	Transcript	.	.	ENSG00000211979	5669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	tolerated(0.12)	.	.	IGHV7-81	HGNC	Q6PIL0_HUMAN	.	UPI000011AABF	SNV	IGHV7-81,missense_variant,p.Ala13Glu,ENST00000390639,;IGHVIII-82,downstream_gene_variant,,ENST00000522058,;IGHV4-80,upstream_gene_variant,,ENST00000522457,;	92	103	42	SUCCESS
LRFN5	145581	.	GRCh37	14	42356467	42356467	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	27	85	0	ENST00000298119.4:c.639C>T	p.Asp213=	p.D213=	ENST00000298119	NM_152447.3	213	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS9678.1	639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACCCTCT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS51450	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,synonymous_variant,p.%3D,ENST00000298119,;LRFN5,synonymous_variant,p.%3D,ENST00000554120,;LRFN5,synonymous_variant,p.%3D,ENST00000554171,;	1828	85	54	SUCCESS
SYNE2	23224	.	GRCh37	14	64491167	64491167	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	28	0	ENST00000344113.4:c.5830C>G	p.Gln1944Glu	p.Q1944E	ENST00000344113	NM_015180.4	1944	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9761.2	5830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCAGCTA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	39/116	.	.	.	.	.	.	.	.	.	39/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Gln1944Glu,ENST00000554584,;SYNE2,missense_variant,p.Gln1944Glu,ENST00000358025,;SYNE2,missense_variant,p.Gln1944Glu,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	6060	28	43	SUCCESS
GPHN	10243	.	GRCh37	14	67647566	67647566	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	74	0	ENST00000315266.5:c.2123G>C	p.Gly708Ala	p.G708A	ENST00000315266	NM_001024218.1	708	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS9777.1	2222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGATTGT	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF03454,Gene3D:2.40.340.10,Superfamily_domains:SSF63867	.	.	ENSP00000417901	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.99)	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,missense_variant,p.Gly754Ala,ENST00000543237,;GPHN,missense_variant,p.Gly677Ala,ENST00000305960,;GPHN,missense_variant,p.Gly741Ala,ENST00000478722,;GPHN,missense_variant,p.Gly708Ala,ENST00000315266,;GPHN,coding_sequence_variant,p.%3D,ENST00000556240,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;	3343	74	52	SUCCESS
CASC5	0	.	GRCh37	15	40916828	40916828	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	41	114	0	ENST00000346991.5:c.4444G>A	p.Gly1482Arg	p.G1482R	ENST00000346991		1482	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS42023.1	4444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGACAG	NONE	.	.	hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2	.	.	ENSP00000335463	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000346991	Transcript	1	.	ENSG00000137812	24054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious(0.05)	.	CASC5_HUMAN	CASC5	HGNC	.	.	UPI0000E59BD3	SNV	CASC5,missense_variant,p.Gly1482Arg,ENST00000346991,;CASC5,missense_variant,p.Gly1456Arg,ENST00000399668,;CASC5,downstream_gene_variant,,ENST00000527044,;CASC5,upstream_gene_variant,,ENST00000532406,;CASC5,missense_variant,p.Gly501Arg,ENST00000526913,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;	4834	114	78	SUCCESS
LCMT2	9836	.	GRCh37	15	43622597	43622597	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751531450	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	28	0	ENST00000305641.5:c.91G>A	p.Gly31Arg	p.G31R	ENST00000305641	NM_014793.4	31	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10094.1	91	RADIA|MUTECT|MUSE|VARSCANS	.	GTACCCGCGCG	NONE	byFrequency	.	hmmpanther:PTHR13600,hmmpanther:PTHR13600:SF2,Pfam_domain:PF04072,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000307214	.	1/1	.	.	.	.	.	.	.	.	rs751531450	1/1	PASS	ENST00000305641	Transcript	.	.	ENSG00000168806	17558	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	LCMT2_HUMAN	LCMT2	HGNC	B4DUW3_HUMAN	.	UPI00000727F6	SNV	LCMT2,missense_variant,p.Gly31Arg,ENST00000305641,;LCMT2,missense_variant,p.Gly31Arg,ENST00000567039,;LCMT2,splice_region_variant,,ENST00000544735,;ADAL,upstream_gene_variant,,ENST00000428046,;ADAL,upstream_gene_variant,,ENST00000562188,;ADAL,upstream_gene_variant,,ENST00000389651,;ADAL,upstream_gene_variant,,ENST00000422466,;ADAL,upstream_gene_variant,,ENST00000563551,;ADAL,upstream_gene_variant,,ENST00000565555,;	207	28	27	SUCCESS
SIN3A	25942	.	GRCh37	15	75705145	75705145	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1464138714	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	41	77	0	ENST00000360439.4:c.715G>A	p.Ala239Thr	p.A239T	ENST00000360439	NM_001145357.1	239	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10279.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2	.	.	ENSP00000378402	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000394947	Transcript	.	.	ENSG00000169375	19353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.47)	.	SIN3A_HUMAN	SIN3A	HGNC	H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN	.	UPI000013EAD4	SNV	SIN3A,missense_variant,p.Ala239Thr,ENST00000394949,;SIN3A,missense_variant,p.Ala239Thr,ENST00000394947,;SIN3A,missense_variant,p.Ala239Thr,ENST00000360439,;SIN3A,downstream_gene_variant,,ENST00000568431,;SIN3A,downstream_gene_variant,,ENST00000564778,;SIN3A,downstream_gene_variant,,ENST00000562776,;CTD-2562G15.2,upstream_gene_variant,,ENST00000569073,;	1030	77	80	SUCCESS
GPRC5B	51704	.	GRCh37	16	19883202	19883202	+	synonymous_variant	Silent	SNP	C	C	T	rs199935784	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	54	0	ENST00000300571.2:c.966G>A	p.Glu322=	p.E322=	ENST00000300571	NM_016235.1	322	gaG/gaA	0	.	G:0	.	G:0.0014	.	T	E	protein_coding	YES	CCDS10581.1	966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCCTCCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR14511:SF9,hmmpanther:PTHR14511	G:0	.	ENSP00000300571	G:0	2/4	.	.	.	.	.	.	.	.	rs199935784	2/4	PASS	ENST00000300571	Transcript	.	G:0.0002	ENSG00000167191	13308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	GPC5B_HUMAN	GPRC5B	HGNC	H3BT93_HUMAN,H3BT47_HUMAN,H3BSJ1_HUMAN,H3BQV9_HUMAN,H3BN33_HUMAN	.	UPI0000032747	SNV	GPRC5B,synonymous_variant,p.%3D,ENST00000300571,;GPRC5B,synonymous_variant,p.%3D,ENST00000537135,;GPRC5B,synonymous_variant,p.%3D,ENST00000569847,;GPRC5B,synonymous_variant,p.%3D,ENST00000569479,;GPRC5B,synonymous_variant,p.%3D,ENST00000535671,;GPRC5B,downstream_gene_variant,,ENST00000562469,;GPRC5B,downstream_gene_variant,,ENST00000564449,;GPRC5B,downstream_gene_variant,,ENST00000566822,;GPRC5B,downstream_gene_variant,,ENST00000568214,;GPRC5B,downstream_gene_variant,,ENST00000570142,;	1158	54	40	SUCCESS
ACSM2B	348158	.	GRCh37	16	20565147	20565147	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	77	0	ENST00000329697.6:c.692C>G	p.Ala231Gly	p.A231G	ENST00000329697	NM_001105069.1	231	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS10586.1	692	MUTECT|MUSE	.	GTTCTGCCATC	NONE	.	.	Superfamily_domains:SSF56801,Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095	.	.	ENSP00000327453	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000329697	Transcript	.	.	ENSG00000066813	30931	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	ACS2B_HUMAN	ACSM2B	HGNC	H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN	.	UPI00001AFAA7	SNV	ACSM2B,missense_variant,p.Ala231Gly,ENST00000565232,;ACSM2B,missense_variant,p.Ala41Gly,ENST00000569163,;ACSM2B,missense_variant,p.Ala231Gly,ENST00000329697,;ACSM2B,missense_variant,p.Ala231Gly,ENST00000567001,;ACSM2B,missense_variant,p.Ala152Gly,ENST00000565322,;ACSM2B,downstream_gene_variant,,ENST00000414188,;ACSM2B,downstream_gene_variant,,ENST00000568882,;ACSM2B,upstream_gene_variant,,ENST00000567288,;ACSM2B,3_prime_UTR_variant,,ENST00000569327,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;	861	77	47	SUCCESS
TSC2	7249	.	GRCh37	16	2138085	2138088	+	frameshift_variant	Frame_Shift_Del	DEL	TCGT	TCGT	-	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	TCGT	TCGT	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	42	0	ENST00000219476.3:c.5105_5108del	p.Ile1702SerfsTer123	p.I1702Sfs*123	ENST00000219476	NM_000548.3	1702	aTCGTg/ag	0	.	.	.	.	.	-	IV/X	protein_coding	YES	CCDS10458.1	5105-5108	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAGATCGTGTCTG	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000219476	.	40/42	.	.	.	.	.	.	.	.	.	40/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,frameshift_variant,p.Ile1599SerfsTer123,ENST00000439673,;TSC2,frameshift_variant,p.Ile1702SerfsTer123,ENST00000219476,;TSC2,frameshift_variant,p.Ile1646SerfsTer123,ENST00000568454,;TSC2,frameshift_variant,p.Ile430SerfsTer123,ENST00000569110,;TSC2,frameshift_variant,p.Ile1635SerfsTer123,ENST00000401874,;TSC2,frameshift_variant,p.Ile1659SerfsTer123,ENST00000353929,;TSC2,frameshift_variant,p.Ile1679SerfsTer123,ENST00000350773,;TSC2,frameshift_variant,p.Ile1587SerfsTer123,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;MIR1225,downstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000472659,;PKD1,downstream_gene_variant,,ENST00000564313,;	5735-5738	42	33	SUCCESS
MT2A	4502	.	GRCh37	16	56642526	56642526	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	31	0	ENST00000245185.5:c.-42G>C		p.*14*	ENST00000245185	NM_005953.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10763.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGCGTGC	NONE	.	.	.	.	.	ENSP00000245185	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000245185	Transcript	.	.	ENSG00000125148	7406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT2_HUMAN	MT2A	HGNC	.	.	UPI000012F71A	SNV	MT2A,5_prime_UTR_variant,,ENST00000561491,;MT2A,5_prime_UTR_variant,,ENST00000245185,;RP11-249C24.10,downstream_gene_variant,,ENST00000569778,;MT2A,non_coding_transcript_exon_variant,,ENST00000563985,;MT2A,upstream_gene_variant,,ENST00000567300,;MT2A,non_coding_transcript_exon_variant,,ENST00000562017,;	416	31	32	SUCCESS
CNOT1	23019	.	GRCh37	16	58589731	58589731	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs866821373	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	27	0	ENST00000317147.5:c.2561G>T	p.Arg854Leu	p.R854L	ENST00000317147	NM_016284.4	854	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS10799.1	2561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTCGCTGG	NONE	.	.	hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162	.	.	ENSP00000320949	.	20/49	.	.	.	.	.	.	.	.	.	20/49	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	SNV	CNOT1,missense_variant,p.Arg854Leu,ENST00000317147,;CNOT1,missense_variant,p.Arg849Leu,ENST00000569240,;CNOT1,missense_variant,p.Arg854Leu,ENST00000441024,;CNOT1,missense_variant,p.Arg83Leu,ENST00000562046,;CNOT1,missense_variant,p.Arg263Leu,ENST00000569882,;CNOT1,upstream_gene_variant,,ENST00000567285,;CNOT1,upstream_gene_variant,,ENST00000245138,;SNORA50,downstream_gene_variant,,ENST00000384225,;CNOT1,non_coding_transcript_exon_variant,,ENST00000569732,;CNOT1,missense_variant,p.Arg849Leu,ENST00000567188,;	2894	27	24	SUCCESS
USP10	9100	.	GRCh37	16	84733660	84733660	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs747216657	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	27	0	ENST00000219473.7:c.-37G>T		p.*13*	ENST00000219473	NM_005153.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45537.1	.	RADIA|MUSE	.	GAGCAGCCGGA	NONE	.	.	.	.	.	ENSP00000219473	.	1/14	.	.	.	.	.	.	.	.	rs747216657	1/14	PASS	ENST00000219473	Transcript	.	.	ENSG00000103194	12608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP10_HUMAN	USP10	HGNC	Q6P2I0_HUMAN	.	UPI00001379EB	SNV	USP10,5_prime_UTR_variant,,ENST00000570053,;USP10,5_prime_UTR_variant,,ENST00000570191,;USP10,5_prime_UTR_variant,,ENST00000562283,;USP10,5_prime_UTR_variant,,ENST00000569038,;USP10,5_prime_UTR_variant,,ENST00000563892,;USP10,5_prime_UTR_variant,,ENST00000219473,;USP10,non_coding_transcript_exon_variant,,ENST00000569511,;USP10,non_coding_transcript_exon_variant,,ENST00000562743,;USP10,non_coding_transcript_exon_variant,,ENST00000562092,;USP10,non_coding_transcript_exon_variant,,ENST00000564566,;USP10,5_prime_UTR_variant,,ENST00000563048,;USP10,5_prime_UTR_variant,,ENST00000563386,;USP10,5_prime_UTR_variant,,ENST00000540269,;	77	27	28	SUCCESS
JPH3	57338	.	GRCh37	16	87723913	87723913	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	48	95	0	ENST00000284262.2:c.1947C>A	p.Gly649=	p.G649=	ENST00000284262	NM_020655.3	649	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10962.1	1947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCTTCGG	NONE	.	.	PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF7	.	.	ENSP00000284262	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000284262	Transcript	.	.	ENSG00000154118	14203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JPH3_HUMAN	JPH3	HGNC	B4DLY6_HUMAN,B4DIC1_HUMAN,B3KP13_HUMAN	.	UPI000012DAC4	SNV	JPH3,synonymous_variant,p.%3D,ENST00000284262,;AC010536.1,downstream_gene_variant,,ENST00000538868,;JPH3,non_coding_transcript_exon_variant,,ENST00000537256,;JPH3,non_coding_transcript_exon_variant,,ENST00000563609,;	2189	95	74	SUCCESS
KRT32	3882	.	GRCh37	17	39622138	39622138	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	64	0	ENST00000225899.3:c.595A>G	p.Ile199Val	p.I199V	ENST00000225899	NM_002278.3	199	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS11393.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATGTCGG	NONE	.	.	hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000225899	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000225899	Transcript	.	.	ENSG00000108759	6449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	tolerated(0.08)	.	K1H2_HUMAN	KRT32	HGNC	.	.	UPI000013C883	SNV	KRT32,missense_variant,p.Ile199Val,ENST00000225899,;RNU2-32P,upstream_gene_variant,,ENST00000411193,;	699	64	57	SUCCESS
TP53	7157	.	GRCh37	17	7578461	7578461	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121912654	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	37	69	0	ENST00000269305.4:c.469G>T	p.Val157Phe	p.V157F	ENST00000269305	NM_001126112.2	157	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS11118.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,pathogenic	GCGGACGCGGG	SITE|p.V157F|c.469G>T|7,SITE|p.V157F|c.469G>T|8,SITE|p.V157F|c.469G>T|22,SITE|p.V157F|c.469G>T|162,SITE|p.V157F|c.469G>T|22,SITE|p.V25F|c.73G>T|25,SITE|p.V64F|c.190G>T|22,CODON|p.0?|c.1_1182del1182|6,CODON|p.R158C|c.471_472CC>TT|6,CODON|p.V157V|c.471C>A|3,CODON|p.V157G|c.470T>G|9,CODON|p.V157D|c.470T>A|8,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.R158fs*11|c.472_475delCGCG|3,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157L|c.469G>C|6,BUFFER|p.V157I|c.469G>A|10,BUFFER|p.V157fs*13|c.468delC|3,BUFFER|p.R156P|c.467G>C|26,BUFFER|p.R63P|c.188G>C|4,BUFFER|p.R156H|c.467G>A|11,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R24P|c.71G>C|4,BUFFER|p.R156L|c.467G>T|3,BUFFER|p.P152fs*14|c.454_466del13|5,BUFFER|p.R156fs*14|c.466delC|9,BUFFER|p.R156S|c.466C>A|3,BUFFER|p.R156G|c.466C>G|3,BUFFER|p.R156C|c.466C>T|4,BUFFER|p.T155T|c.465C>T|4,BUFFER|p.T155N|c.464C>A|4,BUFFER|p.T155N|c.464C>A|5,BUFFER|p.T62N|c.185C>A|6,BUFFER|p.T155N|c.464C>A|25,BUFFER|p.T155I|c.464C>T|15,BUFFER|p.T23N|c.68C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G61V|c.182G>T|3,BUFFER|p.G22V|c.65G>T|4,BUFFER|p.G154D|c.461G>A|6,BUFFER|p.G154V|c.461G>T|38,BUFFER|p.T150fs*16|c.448_460del13|4,BUFFER|p.G154S|c.460G>A|9,BUFFER|p.P153P|c.459C>T|6,BUFFER|p.P153L|c.458C>T|6	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs121912654,TP53_g.12457del,TP53_g.12457G>A,TP53_g.12457G>C,TP53_g.12457G>T,COSM10670,COSM43625,COSM45120,COSM131480,COSM131481,COSM131483,COSM3388217,COSM1679513,COSM131482	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Val157Phe,ENST00000508793,;TP53,missense_variant,p.Val157Phe,ENST00000413465,;TP53,missense_variant,p.Val157Phe,ENST00000420246,;TP53,missense_variant,p.Val157Phe,ENST00000269305,;TP53,missense_variant,p.Val25Phe,ENST00000509690,;TP53,missense_variant,p.Val157Phe,ENST00000359597,;TP53,missense_variant,p.Val64Phe,ENST00000514944,;TP53,missense_variant,p.Val157Phe,ENST00000445888,;TP53,missense_variant,p.Val157Phe,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	659	69	60	SUCCESS
DDC8	0	.	GRCh37	17	76887993	76887993	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	67	137	0	ENST00000322630.2:c.593C>T	p.Ala198Val	p.A198V	ENST00000322630	NM_001243540.1	198	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS58603.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTGCTGTC	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2	.	.	ENSP00000312767	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000322630	Transcript	.	.	ENSG00000178404	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	tolerated(0.07)	.	DDC8_HUMAN	DDC8	Uniprot_gn	.	.	UPI0000071A46	SNV	DDC8,missense_variant,p.Ala198Val,ENST00000322630,;TIMP2,intron_variant,,ENST00000536189,;DDC8,intron_variant,,ENST00000586713,;TIMP2,intron_variant,,ENST00000262768,;DDC8,downstream_gene_variant,,ENST00000590267,;DDC8,downstream_gene_variant,,ENST00000587052,;	759	137	106	SUCCESS
CIDEA	1149	.	GRCh37	18	12277129	12277129	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	68	0	ENST00000320477.9:c.520C>A	p.Leu174Met	p.L174M	ENST00000320477	NM_001279.3	174	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS11856.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGCTGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12306:SF8,hmmpanther:PTHR12306	.	.	ENSP00000320209	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320477	Transcript	.	.	ENSG00000176194	1976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.573)	.	deleterious(0.02)	.	CIDEA_HUMAN	CIDEA	HGNC	.	.	UPI0000049059	SNV	CIDEA,missense_variant,p.Leu174Met,ENST00000320477,;CIDEA,non_coding_transcript_exon_variant,,ENST00000520620,;CIDEA,non_coding_transcript_exon_variant,,ENST00000521296,;CIDEA,3_prime_UTR_variant,,ENST00000522713,;	585	68	66	SUCCESS
GREB1L	80000	.	GRCh37	18	19098035	19098035	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	100	0	ENST00000424526.1:c.5312T>A	p.Ile1771Asn	p.I1771N	ENST00000424526	NM_001142966.1	1771	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS45836.1	5312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACATCTGTG	NONE	.	.	hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720	.	.	ENSP00000464162	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000580732	Transcript	.	.	ENSG00000141449	31042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.468)	.	deleterious(0)	.	GRB1L_HUMAN	GREB1L	HGNC	.	.	UPI0001642876	SNV	GREB1L,missense_variant,p.Ile1662Asn,ENST00000269218,;GREB1L,missense_variant,p.Ile1771Asn,ENST00000424526,;GREB1L,missense_variant,p.Ile1771Asn,ENST00000580732,;GREB1L,3_prime_UTR_variant,,ENST00000400483,;GREB1L,intron_variant,,ENST00000580384,;	5693	100	96	SUCCESS
DSG2	1829	.	GRCh37	18	29126582	29126582	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1064795829	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	14	88	0	ENST00000261590.8:c.3233G>C	p.Gly1078Ala	p.G1078A	ENST00000261590	NM_001943.3	1078	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS42423.1	3233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGAGCTG	NONE	.	.	hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1	.	.	ENSP00000261590	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000261590	Transcript	.	.	ENSG00000046604	3049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.07)	.	DSG2_HUMAN	DSG2	HGNC	.	.	UPI0000048E38	SNV	DSG2,missense_variant,p.Gly1078Ala,ENST00000261590,;RP11-75N4.2,intron_variant,,ENST00000583706,;RP11-75N4.2,downstream_gene_variant,,ENST00000579251,;	3442	88	98	SUCCESS
CTIF	9811	.	GRCh37	18	46287965	46287965	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	60	0	ENST00000256413.3:c.1276A>G	p.Ser426Gly	p.S426G	ENST00000256413	NM_014772.2	426	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS45864.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCAGCTTC	NONE	.	.	hmmpanther:PTHR23254:SF14,hmmpanther:PTHR23254,Pfam_domain:PF02854,Gene3D:1.25.40.180,SMART_domains:SM00543,Superfamily_domains:SSF48371	.	.	ENSP00000372459	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000382998	Transcript	.	.	ENSG00000134030	23925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.233)	.	deleterious(0.01)	.	CTIF_HUMAN	CTIF	HGNC	K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN	.	UPI0000074650	SNV	CTIF,missense_variant,p.Ser428Gly,ENST00000382998,;CTIF,missense_variant,p.Ser426Gly,ENST00000256413,;CTIF,downstream_gene_variant,,ENST00000587752,;CTIF,downstream_gene_variant,,ENST00000587769,;CTIF,non_coding_transcript_exon_variant,,ENST00000587860,;	1539	60	63	SUCCESS
DCC	1630	.	GRCh37	18	50278626	50278626	+	frameshift_variant	Frame_Shift_Ins	INS	G	G	AAT	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	122	0	ENST00000442544.2:c.294delinsAAT	p.Gln100TyrfsTer23	p.Q100Yfs*23	ENST00000442544	NM_005215.3	98	ctG/ctAAT	0	.	.	.	.	.	AAT	L/LX	protein_coding	YES	CCDS11952.1	294	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	TCTGCTGATACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000389140	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	substitution	DCC,frameshift_variant,p.Gln34TyrfsTer23,ENST00000582875,;DCC,frameshift_variant,p.Gln100TyrfsTer23,ENST00000442544,;DCC,frameshift_variant,p.Gln68TyrfsTer23,ENST00000578080,;DCC,5_prime_UTR_variant,,ENST00000412726,;DCC,non_coding_transcript_exon_variant,,ENST00000580024,;DCC,non_coding_transcript_exon_variant,,ENST00000582595,;DCC,non_coding_transcript_exon_variant,,ENST00000579666,;DCC,frameshift_variant,p.Gln34TyrfsTer23,ENST00000304775,;DCC,frameshift_variant,p.Gln33TyrfsTer23,ENST00000579349,;DCC,frameshift_variant,p.Gln32TyrfsTer23,ENST00000581559,;	910	122	105	SUCCESS
SERPINB8	5271	.	GRCh37	18	61645627	61645627	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	53	0	ENST00000353706.2:c.85T>C	p.Phe29Leu	p.F29L	ENST00000353706	NM_002640.3	29	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11991.1	85	MUTECT|MUSE	.	ACGTATTCTTC	NONE	.	.	hmmpanther:PTHR11461:SF135,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000381072	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000397985	Transcript	.	.	ENSG00000166401	8952	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.323)	.	deleterious(0.02)	.	SPB8_HUMAN	SERPINB8	HGNC	C9JVA8_HUMAN,C9JTJ8_HUMAN,B4DTW2_HUMAN	.	UPI000013C5F2	SNV	SERPINB8,missense_variant,p.Phe29Leu,ENST00000353706,;SERPINB8,missense_variant,p.Phe29Leu,ENST00000448851,;SERPINB8,missense_variant,p.Phe29Leu,ENST00000397988,;SERPINB8,missense_variant,p.Phe29Leu,ENST00000397985,;SERPINB8,missense_variant,p.Phe29Leu,ENST00000441827,;SERPINB8,intron_variant,,ENST00000542677,;SERPINB8,upstream_gene_variant,,ENST00000295211,;HMSD,non_coding_transcript_exon_variant,,ENST00000481726,;	341	53	63	SUCCESS
CDH7	1005	.	GRCh37	18	63547825	63547825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	27	162	0	ENST00000323011.3:c.2053G>T	p.Asp685Tyr	p.D685Y	ENST00000323011	NM_033646.1	685	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS11993.1	2053	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGATGTG	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Pfam_domain:PF01049	.	.	ENSP00000381058	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Asp685Tyr,ENST00000397968,;CDH7,missense_variant,p.Asp685Tyr,ENST00000323011,;	2479	162	144	SUCCESS
TSPAN16	26526	.	GRCh37	19	11417449	11417449	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	88	0	ENST00000316737.1:c.603+17T>A		p.*201*	ENST00000316737	NM_012466.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12256.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTGTGTT	NONE	.	.	.	.	.	ENSP00000319486	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316737	Transcript	.	.	ENSG00000130167	30725	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN16_HUMAN	TSPAN16	HGNC	.	.	UPI000013706E	SNV	TSPAN16,intron_variant,,ENST00000592955,;TSPAN16,intron_variant,,ENST00000316737,;TSPAN16,intron_variant,,ENST00000590327,;CTC-510F12.4,non_coding_transcript_exon_variant,,ENST00000585801,;CTC-510F12.4,non_coding_transcript_exon_variant,,ENST00000586356,;TSPAN16,intron_variant,,ENST00000337994,;TSPAN16,intron_variant,,ENST00000589928,;	.	88	68	SUCCESS
OR7A17	26333	.	GRCh37	19	14991644	14991644	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	68	0	ENST00000327462.2:c.524C>T	p.Pro175Leu	p.P175L	ENST00000327462	NM_030901.1	175	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12319.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGGGATT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF263,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000328144	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327462	Transcript	.	.	ENSG00000185385	8363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious_low_confidence(0)	.	OR7AH_HUMAN	OR7A17	HGNC	Q9UEB1_HUMAN	.	UPI0000041DF9	SNV	OR7A17,missense_variant,p.Pro175Leu,ENST00000327462,;	621	68	59	SUCCESS
NOTCH3	4854	.	GRCh37	19	15298796	15298796	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1209870761	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	90	0	ENST00000263388.2:c.1502G>T	p.Gly501Val	p.G501V	ENST00000263388	NM_000435.2	501	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12326.1	1502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCCGCTG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Gly501Val,ENST00000263388,;NOTCH3,missense_variant,p.Gly500Val,ENST00000601011,;	1578	90	76	SUCCESS
ZNF430	80264	.	GRCh37	19	21216933	21216933	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776608813	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	37	0	ENST00000261560.5:c.265G>C	p.Glu89Gln	p.E89Q	ENST00000261560	NM_025189.3	89	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS32978.1	265	MUTECT|MUSE	.	GTCTAGAGCAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF41,hmmpanther:PTHR24384,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000261560	.	4/5	.	.	.	.	.	.	.	.	rs776608813	4/5	PASS	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.391)	.	deleterious(0.05)	.	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,missense_variant,p.Glu88Gln,ENST00000595401,;ZNF430,missense_variant,p.Glu89Gln,ENST00000594110,;ZNF430,missense_variant,p.Glu89Gln,ENST00000599548,;ZNF430,missense_variant,p.Glu89Gln,ENST00000261560,;ZNF430,downstream_gene_variant,,ENST00000595833,;	446	37	30	SUCCESS
MFSD12	126321	.	GRCh37	19	3544813	3544813	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770546269	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	21	0	ENST00000355415.2:c.1414C>G	p.Arg472Gly	p.R472G	ENST00000355415	NM_174983.3	472	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS42464.1	1414	RADIA|VARSCANS	.	GCGTCGCAGGC	NONE	byFrequency	.	hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF28	.	.	ENSP00000381566	.	9/11	.	.	.	.	.	.	.	.	rs770546269,COSM4076900,COSM4076902,COSM4076901	9/11	PASS	ENST00000398558	Transcript	.	.	ENSG00000161091	28299	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	possibly_damaging(0.766)	.	.	0,1,1,1	MFS12_HUMAN	MFSD12	HGNC	.	.	UPI0000DBE357	SNV	MFSD12,missense_variant,p.Arg472Gly,ENST00000355415,;MFSD12,missense_variant,p.Arg472Gly,ENST00000389395,;MFSD12,missense_variant,p.Arg472Gly,ENST00000398558,;MFSD12,missense_variant,p.Arg151Gly,ENST00000589063,;C19orf71,downstream_gene_variant,,ENST00000329493,;MFSD12,downstream_gene_variant,,ENST00000592652,;MFSD12,downstream_gene_variant,,ENST00000589995,;AC005786.7,intron_variant,,ENST00000589360,;MFSD12,downstream_gene_variant,,ENST00000591878,;MFSD12,missense_variant,p.Arg463Gly,ENST00000588918,;MFSD12,upstream_gene_variant,,ENST00000585788,;MFSD12,downstream_gene_variant,,ENST00000585814,;MFSD12,upstream_gene_variant,,ENST00000589157,;	1414	21	22	SUCCESS
FXYD3	5349	.	GRCh37	19	35614352	35614352	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	77	0	ENST00000603181.1:c.255C>T	p.Ala85=	p.A85=	ENST00000603181		85	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46048.1	426	RADIA|MUTECT|MUSE	.	TCAGCCCAAAG	NONE	.	.	hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF11,Gene3D:1.20.5.780	.	.	ENSP00000473929	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000604255	Transcript	.	.	ENSG00000089356	4027	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FXYD3_HUMAN	FXYD3	HGNC	S4R3M2_HUMAN	.	UPI0001823FD9	SNV	FXYD3,synonymous_variant,p.%3D,ENST00000346446,;FXYD3,synonymous_variant,p.%3D,ENST00000603524,;FXYD3,synonymous_variant,p.%3D,ENST00000603181,;FXYD3,synonymous_variant,p.%3D,ENST00000344013,;FXYD3,synonymous_variant,p.%3D,ENST00000406988,;FXYD3,synonymous_variant,p.%3D,ENST00000604804,;FXYD3,synonymous_variant,p.%3D,ENST00000604404,;FXYD3,synonymous_variant,p.%3D,ENST00000535103,;FXYD3,synonymous_variant,p.%3D,ENST00000604621,;FXYD3,synonymous_variant,p.%3D,ENST00000435734,;FXYD3,synonymous_variant,p.%3D,ENST00000604255,;FXYD3,downstream_gene_variant,,ENST00000603449,;FXYD3,downstream_gene_variant,,ENST00000454903,;LGI4,downstream_gene_variant,,ENST00000310123,;FXYD3,downstream_gene_variant,,ENST00000605552,;FXYD3,downstream_gene_variant,,ENST00000605677,;LGI4,downstream_gene_variant,,ENST00000392225,;FXYD3,downstream_gene_variant,,ENST00000406242,;LGI4,downstream_gene_variant,,ENST00000587780,;FXYD3,downstream_gene_variant,,ENST00000605550,;LGI4,downstream_gene_variant,,ENST00000493050,;LGI4,downstream_gene_variant,,ENST00000591840,;LGI4,downstream_gene_variant,,ENST00000593248,;FXYD3,downstream_gene_variant,,ENST00000604504,;	573	77	53	SUCCESS
CREB3L3	84699	.	GRCh37	19	4159678	4159678	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	41	0	ENST00000078445.2:c.475G>T	p.Gly159Ter	p.G159*	ENST00000078445	NM_032607.2	159	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS12121.1	475	MUTECT|MUSE	.	CAGGAGGAAGG	NONE	.	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98	.	.	ENSP00000078445	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000078445	Transcript	1	.	ENSG00000060566	18855	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CR3L3_HUMAN	CREB3L3	HGNC	.	.	UPI000006FCF0	SNV	CREB3L3,stop_gained,p.Gly159Ter,ENST00000078445,;CREB3L3,stop_gained,p.Gly159Ter,ENST00000602147,;CREB3L3,stop_gained,p.Gly159Ter,ENST00000602257,;CREB3L3,stop_gained,p.Gly158Ter,ENST00000595923,;CREB3L3,intron_variant,,ENST00000252587,;CREB3L3,upstream_gene_variant,,ENST00000598894,;	622	41	49	SUCCESS
CEACAM8	1088	.	GRCh37	19	43098936	43098936	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	28	0	ENST00000244336.5:c.45G>A	p.Trp15Ter	p.W15*	ENST00000244336	NM_001816.3	15	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS12610.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCCAGGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF60,hmmpanther:PTHR19955	.	.	ENSP00000244336	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000244336	Transcript	.	.	ENSG00000124469	1820	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM8_HUMAN	CEACAM8	HGNC	Q0Z7S6_HUMAN	.	UPI00000012A3	SNV	CEACAM8,stop_gained,p.Trp15Ter,ENST00000244336,;CEACAM8,stop_gained,p.Trp15Ter,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;	147	28	29	SUCCESS
FUT1	2523	.	GRCh37	19	49253562	49253562	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	38	0	ENST00000310160.3:c.977C>G	p.Ala326Gly	p.A326G	ENST00000310160	NM_000148.3	326	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS12733.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGGCCAGG	NONE	.	.	hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4,Pfam_domain:PF01531	.	.	ENSP00000312021	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310160	Transcript	1	.	ENSG00000174951	4012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.05)	.	FUT1_HUMAN	FUT1	HGNC	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN	.	UPI00000338F8	SNV	FUT1,missense_variant,p.Ala326Gly,ENST00000310160,;IZUMO1,upstream_gene_variant,,ENST00000602105,;IZUMO1,upstream_gene_variant,,ENST00000332955,;FUT1,downstream_gene_variant,,ENST00000601931,;FUT1,downstream_gene_variant,,ENST00000601988,;FUT1,downstream_gene_variant,,ENST00000599826,;FUT1,downstream_gene_variant,,ENST00000597220,;IZUMO1,upstream_gene_variant,,ENST00000595937,;IZUMO1,upstream_gene_variant,,ENST00000595517,;IZUMO1,upstream_gene_variant,,ENST00000597553,;	1952	38	47	SUCCESS
C19orf48	84798	.	GRCh37	19	51301909	51301909	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	79	0	ENST00000345523.4:c.-204C>T		p.*68*	ENST00000345523	NM_199250.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12803.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGTGCCG	NONE	.	.	.	.	.	ENSP00000471463	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000598463	Transcript	.	.	ENSG00000167747	29667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS048_HUMAN	C19orf48	HGNC	M0R3D1_HUMAN,M0R1Y9_HUMAN,M0R1J5_HUMAN,M0QZC8_HUMAN,M0QXL0_HUMAN	.	UPI000006ECB0	SNV	C19orf48,5_prime_UTR_variant,,ENST00000601267,;C19orf48,5_prime_UTR_variant,,ENST00000345523,;C19orf48,5_prime_UTR_variant,,ENST00000391812,;C19orf48,5_prime_UTR_variant,,ENST00000596287,;C19orf48,5_prime_UTR_variant,,ENST00000597705,;C19orf48,5_prime_UTR_variant,,ENST00000600373,;C19orf48,5_prime_UTR_variant,,ENST00000597493,;C19orf48,5_prime_UTR_variant,,ENST00000596655,;C19orf48,5_prime_UTR_variant,,ENST00000598463,;C19orf48,intron_variant,,ENST00000593287,;ACPT,downstream_gene_variant,,ENST00000270594,;ACPT,downstream_gene_variant,,ENST00000270593,;SNORD88A,downstream_gene_variant,,ENST00000408314,;SNORD88C,downstream_gene_variant,,ENST00000408061,;SNORD88B,downstream_gene_variant,,ENST00000408454,;C19orf48,non_coding_transcript_exon_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000596554,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000602125,;	896	79	68	SUCCESS
ZNF586	54807	.	GRCh37	19	58290133	58290133	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1264822084	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	26	0	ENST00000396154.2:c.178G>A	p.Gly60Arg	p.G60R	ENST00000396154	NM_017652.3	60	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS42640.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAGGGGAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387:SF34,hmmpanther:PTHR24387,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000379458	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396154	Transcript	.	.	ENSG00000083828	25949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.08)	.	ZN586_HUMAN	ZNF586	HGNC	.	.	UPI0000202D48	SNV	ZNF586,missense_variant,p.Gly17Arg,ENST00000391702,;ZNF586,missense_variant,p.Gly60Arg,ENST00000396154,;ZNF586,synonymous_variant,p.%3D,ENST00000396150,;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;	351	26	36	SUCCESS
ZNF256	10172	.	GRCh37	19	58453067	58453067	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	57	0	ENST00000282308.3:c.1109A>G	p.Gln370Arg	p.Q370R	ENST00000282308	NM_005773.2	370	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS12966.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTGGTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282308	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282308	Transcript	.	.	ENSG00000152454	13049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.21)	.	ZN256_HUMAN	ZNF256	HGNC	.	.	UPI00001D69EC	SNV	ZNF256,missense_variant,p.Gln370Arg,ENST00000282308,;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	1306	57	40	SUCCESS
CASZ1	54897	.	GRCh37	1	10707798	10707798	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	15	0	ENST00000377022.3:c.3497+60A>G		p.*1166*	ENST00000377022	NM_001079843.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41246.1	.	MUTECT|MUSE	.	CTTGCTAGCAC	NONE	.	.	.	.	.	ENSP00000366221	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377022	Transcript	.	.	ENSG00000130940	26002	.	.	MODIFIER	16/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CASZ1_HUMAN	CASZ1	HGNC	.	.	UPI0000EBB7D6	SNV	CASZ1,3_prime_UTR_variant,,ENST00000344008,;CASZ1,intron_variant,,ENST00000377022,;CASZ1,upstream_gene_variant,,ENST00000447850,;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,downstream_gene_variant,,ENST00000490176,;	.	15	21	SUCCESS
CASZ1	54897	.	GRCh37	1	10713699	10713699	+	synonymous_variant	Silent	SNP	C	C	G	rs532063463	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	30	0	ENST00000377022.3:c.2415G>C	p.Leu805=	p.L805=	ENST00000377022	NM_001079843.2	805	ctG/ctC	0	.	T:0	.	T:0	.	G	L	protein_coding	YES	CCDS41246.1	2415	MUTECT|MUSE	.	CCAGCCAGTAT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR12451	T:0.002	.	ENSP00000366221	T:0	11/21	.	.	.	.	.	.	.	.	rs532063463	11/21	PASS	ENST00000377022	Transcript	.	T:0.0004	ENSG00000130940	26002	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CASZ1_HUMAN	CASZ1	HGNC	.	.	UPI0000EBB7D6	SNV	CASZ1,synonymous_variant,p.%3D,ENST00000344008,;CASZ1,synonymous_variant,p.%3D,ENST00000377022,;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;	2733	30	23	SUCCESS
PRAMEF18	391003	.	GRCh37	1	13475226	13475226	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	9	105	0	ENST00000376126.2:c.903T>G	p.Thr301=	p.T301=	ENST00000376126	NM_001099850.1	301	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41258.1	903	RADIA|VARSCANS	.	CCATAAGTTAA	NONE	.	.	hmmpanther:PTHR14224:SF5,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000365294	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376126	Transcript	.	.	ENSG00000204491	30693	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRA18_HUMAN	PRAMEF18	HGNC	.	.	UPI00002521C0	SNV	PRAMEF18,synonymous_variant,p.%3D,ENST00000376126,;	903	105	85	SUCCESS
BNIPL	149428	.	GRCh37	1	151015463	151015463	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	166	0	ENST00000368931.3:c.465C>A	p.Thr155=	p.T155=	ENST00000368931	NM_138278.3	155	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS978.2	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCAGTGA	NONE	.	.	Pfam_domain:PF12496,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF13	.	.	ENSP00000357927	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000368931	Transcript	.	.	ENSG00000163141	16976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BNIPL_HUMAN	BNIPL	HGNC	F8W685_HUMAN	.	UPI00001B94EF	SNV	BNIPL,synonymous_variant,p.%3D,ENST00000392802,;BNIPL,synonymous_variant,p.%3D,ENST00000361277,;BNIPL,synonymous_variant,p.%3D,ENST00000368931,;BNIPL,synonymous_variant,p.%3D,ENST00000295294,;C1orf56,upstream_gene_variant,,ENST00000368926,;BNIPL,upstream_gene_variant,,ENST00000491386,;BNIPL,synonymous_variant,p.%3D,ENST00000485855,;	621	166	99	SUCCESS
FLG	2312	.	GRCh37	1	152276077	152276077	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762597566	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	110	0	ENST00000368799.1:c.11285C>A	p.Pro3762Gln	p.P3762Q	ENST00000368799	NM_002016.1	3762	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS30860.1	11285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGGGTGT	NONE	byFrequency	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs762597566	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Pro3762Gln,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	11321	110	87	SUCCESS
CRTC2	200186	.	GRCh37	1	153920605	153920605	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747047912	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	140	0	ENST00000368633.1:c.2062C>A	p.Arg688Ser	p.R688S	ENST00000368633	NM_181715.2	688	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS30875.1	2062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGGAATG	NONE	.	.	hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589,Pfam_domain:PF12886	.	.	ENSP00000357622	.	14/14	.	.	.	.	.	.	.	.	rs747047912	14/14	PASS	ENST00000368633	Transcript	.	.	ENSG00000160741	27301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CRTC2_HUMAN	CRTC2	HGNC	Q8WZ18_HUMAN,Q8N332_HUMAN	.	UPI00001A9468	SNV	CRTC2,missense_variant,p.Arg688Ser,ENST00000368633,;CRTC2,missense_variant,p.Arg368Ser,ENST00000368630,;DENND4B,upstream_gene_variant,,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000361217,;DENND4B,upstream_gene_variant,,ENST00000472932,;CRTC2,3_prime_UTR_variant,,ENST00000303569,;CRTC2,3_prime_UTR_variant,,ENST00000461638,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,downstream_gene_variant,,ENST00000467860,;CRTC2,downstream_gene_variant,,ENST00000524997,;CRTC2,downstream_gene_variant,,ENST00000493909,;	2190	140	73	SUCCESS
FCRLB	127943	.	GRCh37	1	161695608	161695608	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	64	0	ENST00000367948.2:c.308-3C>T		p.X103_splice	ENST00000367948		103		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30927.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGCAGATT	NONE	.	.	.	.	.	ENSP00000356925	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367948	Transcript	.	.	ENSG00000162746	26431	.	.	LOW	5/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FCRLB_HUMAN	FCRLB	HGNC	.	.	UPI00003FF782	SNV	FCRLB,splice_region_variant,,ENST00000367948,;FCRLB,splice_region_variant,,ENST00000392158,;FCRLB,splice_region_variant,,ENST00000367944,;FCRLB,splice_region_variant,,ENST00000336830,;FCRLB,splice_region_variant,,ENST00000367946,;FCRLB,splice_region_variant,,ENST00000367945,;FCRLB,upstream_gene_variant,,ENST00000495397,;	.	64	40	SUCCESS
SPEN	23013	.	GRCh37	1	16256548	16256548	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	122	0	ENST00000375759.3:c.3813A>C	p.Glu1271Asp	p.E1271D	ENST00000375759	NM_015001.2	1271	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS164.1	3813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAAGATGA	NONE	.	.	hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Glu1271Asp,ENST00000375759,;	4017	122	77	SUCCESS
MST1L	11223	.	GRCh37	1	17083497	17083497	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	34	0	ENST00000389184.2:n.2285G>A		p.*762*	ENST00000389184				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACAGTGG	NONE	.	.	.	.	.	.	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000389184	Transcript	.	.	ENSG00000186715	7390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MST1L	HGNC	.	.	.	SNV	MST1L,non_coding_transcript_exon_variant,,ENST00000455405,;CROCC,intron_variant,,ENST00000466256,;MST1L,downstream_gene_variant,,ENST00000545160,;MST1L,downstream_gene_variant,,ENST00000544155,;MST1L,non_coding_transcript_exon_variant,,ENST00000389184,;MST1L,downstream_gene_variant,,ENST00000442552,;	2285	34	27	SUCCESS
AKR7A3	22977	.	GRCh37	1	19612757	19612757	+	synonymous_variant	Silent	SNP	G	G	A	rs1467321831	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	63	252	0	ENST00000361640.4:c.324C>T	p.Asp108=	p.D108=	ENST00000361640	NM_012067.2	108	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS193.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGTCCAC	NONE	.	.	hmmpanther:PTHR11732:SF186,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430	.	.	ENSP00000355377	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000361640	Transcript	.	.	ENSG00000162482	390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARK73_HUMAN	AKR7A3	HGNC	.	.	UPI0000125D48	SNV	AKR7A3,synonymous_variant,p.%3D,ENST00000361640,;	865	252	222	SUCCESS
ASPM	259266	.	GRCh37	1	197072361	197072361	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	62	0	ENST00000367409.4:c.6020A>C	p.Tyr2007Ser	p.Y2007S	ENST00000367409	NM_018136.4	2007	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS1389.1	6020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGTAAGCC	NONE	.	.	hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069,SMART_domains:SM00015,Superfamily_domains:SSF52540	.	.	ENSP00000356379	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.03)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Tyr2007Ser,ENST00000367409,;ASPM,intron_variant,,ENST00000367408,;ASPM,intron_variant,,ENST00000294732,;	6277	62	54	SUCCESS
CRB1	23418	.	GRCh37	1	197404289	197404289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	62	0	ENST00000367400.3:c.3296C>A	p.Thr1099Lys	p.T1099K	ENST00000367400	NM_201253.2	1099	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS1390.1	3296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTACAATAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24049,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000356370	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Thr580Lys,ENST00000544212,;CRB1,missense_variant,p.Thr987Lys,ENST00000367399,;CRB1,missense_variant,p.Thr1075Lys,ENST00000535699,;CRB1,missense_variant,p.Thr480Lys,ENST00000367397,;CRB1,missense_variant,p.Thr1099Lys,ENST00000367400,;CRB1,intron_variant,,ENST00000538660,;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,missense_variant,p.Thr1099Lys,ENST00000484075,;	3431	62	52	SUCCESS
OBSCN	84033	.	GRCh37	1	228474027	228474027	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	58	0	ENST00000422127.1:c.9253G>T	p.Ala3085Ser	p.A3085S	ENST00000422127	NM_001098623.2	3085	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS59204.1	10540	MUTECT|MUSE	.	AGCGGGCCTCG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	39/116	.	.	.	.	.	.	.	.	COSM1601821,COSM1601822,COSM1601823,COSM1601820	39/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1,1	.	.	possibly_damaging(0.451)	.	.	1,1,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala204Ser,ENST00000366707,;OBSCN,missense_variant,p.Ala204Ser,ENST00000366709,;OBSCN,missense_variant,p.Ala361Ser,ENST00000483539,;OBSCN,missense_variant,p.Ala3085Ser,ENST00000284548,;OBSCN,missense_variant,p.Ala1932Ser,ENST00000359599,;OBSCN,missense_variant,p.Ala3514Ser,ENST00000570156,;OBSCN,missense_variant,p.Ala3085Ser,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;	10614	58	41	SUCCESS
IRF2BP2	359948	.	GRCh37	1	234743411	234743411	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	18	107	0	ENST00000366609.3:c.1236C>T	p.Thr412=	p.T412=	ENST00000366609	NM_182972.2	412	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1602.1	1236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTGGTCCG	NONE	.	.	hmmpanther:PTHR10816:SF18,hmmpanther:PTHR10816	.	.	ENSP00000355568	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366609	Transcript	.	.	ENSG00000168264	21729	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I2BP2_HUMAN	IRF2BP2	HGNC	B4DTU9_HUMAN	.	UPI000004FA32	SNV	IRF2BP2,synonymous_variant,p.%3D,ENST00000366609,;IRF2BP2,synonymous_variant,p.%3D,ENST00000366610,;RP4-781K5.2,intron_variant,,ENST00000436039,;IRF2BP2,non_coding_transcript_exon_variant,,ENST00000491430,;	1267	107	98	SUCCESS
NLRP3	114548	.	GRCh37	1	247587376	247587376	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765608542	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	162	0	ENST00000336119.3:c.631C>A	p.Pro211Thr	p.P211T	ENST00000336119	NM_001127462.2	211	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS1632.1	631	RADIA|MUTECT|MUSE	.	TTGACCCCGAT	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	rs765608542	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.616)	.	deleterious(0)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.Pro211Thr,ENST00000366496,;NLRP3,missense_variant,p.Pro211Thr,ENST00000336119,;NLRP3,missense_variant,p.Pro211Thr,ENST00000391827,;NLRP3,missense_variant,p.Pro211Thr,ENST00000366497,;NLRP3,missense_variant,p.Pro211Thr,ENST00000391828,;NLRP3,missense_variant,p.Pro211Thr,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	1377	162	120	SUCCESS
MACF1	23499	.	GRCh37	1	39800434	39800434	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs1274457504	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	28	141	0	ENST00000372915.3:c.8189del	p.Gln2730ArgfsTer3	p.Q2730Rfs*3	ENST00000372915		2730	cAg/cg	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS435.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCATCAGGTGT	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	deletion	MACF1,frameshift_variant,p.Gln1165ArgfsTer3,ENST00000289893,;MACF1,frameshift_variant,p.Gln2725ArgfsTer3,ENST00000564288,;MACF1,frameshift_variant,p.Gln2730ArgfsTer3,ENST00000372915,;MACF1,frameshift_variant,p.Gln2762ArgfsTer3,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	.	141	140	SUCCESS
SZT2	23334	.	GRCh37	1	43896050	43896050	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	65	0	ENST00000562955.1:c.4299G>A	p.Met1433Ile	p.M1433I	ENST00000562955	NM_015284.3	1433	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS30694.2	4299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATGGGAGA	NONE	.	.	hmmpanther:PTHR14918	.	.	ENSP00000457168	.	30/71	.	.	.	.	.	.	.	.	.	30/71	PASS	ENST00000562955	Transcript	.	.	ENSG00000198198	29040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.24)	.	SZT2_HUMAN	SZT2	HGNC	.	.	UPI0001E24F46	SNV	SZT2,missense_variant,p.Met591Ile,ENST00000372442,;SZT2,missense_variant,p.Met1433Ile,ENST00000562955,;SZT2,non_coding_transcript_exon_variant,,ENST00000478140,;SZT2,downstream_gene_variant,,ENST00000470139,;	4299	65	44	SUCCESS
DNAJC6	9829	.	GRCh37	1	65874377	65874377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	64	332	0	ENST00000395325.3:c.2374A>T	p.Asn792Tyr	p.N792Y	ENST00000395325	NM_014787.3	792	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS58004.1	2545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCAATGCT	NONE	.	.	hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,Gene3D:1.10.287.110,Superfamily_domains:SSF46565	.	.	ENSP00000360108	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0)	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,missense_variant,p.Asn849Tyr,ENST00000371069,;DNAJC6,missense_variant,p.Asn792Tyr,ENST00000395325,;DNAJC6,missense_variant,p.Asn779Tyr,ENST00000263441,;	2746	332	242	SUCCESS
KLHL21	9903	.	GRCh37	1	6661948	6661948	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	24	123	0	ENST00000377658.4:c.930G>T	p.Gln310His	p.Q310H	ENST00000377658	NM_014851.2	310	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS30575.1	930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTCTGCGG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF7,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000366886	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377658	Transcript	.	.	ENSG00000162413	29041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.19)	.	KLH21_HUMAN	KLHL21	HGNC	Q2NKK7_HUMAN,K7ESH2_HUMAN,K7EMF2_HUMAN,K7ELI0_HUMAN	.	UPI0000070D85	SNV	KLHL21,missense_variant,p.Gln310His,ENST00000377663,;KLHL21,missense_variant,p.Gln310His,ENST00000377658,;KLHL21,intron_variant,,ENST00000463043,;KLHL21,intron_variant,,ENST00000467612,;KLHL21,upstream_gene_variant,,ENST00000496707,;	982	123	100	SUCCESS
SLC2A7	155184	.	GRCh37	1	9078428	9078428	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	79	0	ENST00000400906.1:c.443C>G	p.Ser148Cys	p.S148C	ENST00000400906	NM_207420.2	148	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS98.2	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGAGATG	BUFFER|p.A151T|c.451G>A|4	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00171,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,PROSITE_patterns:PS00217,hmmpanther:PTHR24063:SF227,hmmpanther:PTHR24063,PROSITE_profiles:PS50850	.	.	ENSP00000383698	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000400906	Transcript	.	.	ENSG00000197241	13445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.15)	.	GTR7_HUMAN	SLC2A7	HGNC	.	.	UPI00001A73A8	SNV	SLC2A7,missense_variant,p.Ser148Cys,ENST00000400906,;	443	79	78	SUCCESS
MACROD2	140733	.	GRCh37	20	13983050	13983050	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs748621808	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	42	89	0	ENST00000217246.4:c.163G>A	p.Glu55Lys	p.E55K	ENST00000217246	NM_080676.5	55	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13120.2	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGGTAAG	NONE	.	.	hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF54,Gene3D:3.40.220.10	.	.	ENSP00000217246	.	2/17	.	.	.	.	.	.	.	.	rs748621808	2/17	PASS	ENST00000217246	Transcript	.	.	ENSG00000172264	16126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.6)	.	tolerated(0.34)	.	MACD2_HUMAN	MACROD2	HGNC	.	.	UPI00005B2E12	SNV	MACROD2,missense_variant,p.Glu55Lys,ENST00000217246,;MACROD2,missense_variant,p.Glu55Lys,ENST00000310348,;MACROD2,splice_region_variant,,ENST00000462552,;MACROD2,splice_region_variant,,ENST00000490428,;MACROD2,splice_region_variant,,ENST00000483997,;MACROD2,splice_region_variant,,ENST00000492055,;MACROD2,splice_region_variant,,ENST00000477147,;MACROD2,splice_region_variant,,ENST00000494602,;RPS3P1,upstream_gene_variant,,ENST00000456781,;	558	89	80	SUCCESS
DIDO1	11083	.	GRCh37	20	61522428	61522428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	105	0	ENST00000266070.4:c.3425G>A	p.Ser1142Asn	p.S1142N	ENST00000266070	NM_033081.2	1142	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS33506.1	3425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCTGCTG	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914,Pfam_domain:PF07744	.	.	ENSP00000266070	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Ser1142Asn,ENST00000266070,;DIDO1,missense_variant,p.Ser1142Asn,ENST00000395335,;DIDO1,missense_variant,p.Ser1142Asn,ENST00000395340,;DIDO1,missense_variant,p.Ser1142Asn,ENST00000395343,;	3751	105	69	SUCCESS
KCNQ2	3785	.	GRCh37	20	62044867	62044867	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748571840	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	32	211	0	ENST00000359125.2:c.1699G>T	p.Val567Phe	p.V567F	ENST00000359125	NM_172107.2	567	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS13520.1	1699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACGTCCA	NONE	.	.	Pfam_domain:PF03520	.	.	ENSP00000352035	.	15/17	.	.	.	.	.	.	.	.	rs748571840	15/17	PASS	ENST00000359125	Transcript	1	.	ENSG00000075043	6296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KCNQ2_HUMAN	KCNQ2	HGNC	.	.	UPI00001279ED	SNV	KCNQ2,missense_variant,p.Val567Phe,ENST00000359689,;KCNQ2,missense_variant,p.Val567Phe,ENST00000359125,;KCNQ2,missense_variant,p.Val539Phe,ENST00000354587,;KCNQ2,missense_variant,p.Val539Phe,ENST00000370224,;KCNQ2,missense_variant,p.Val539Phe,ENST00000360480,;KCNQ2,missense_variant,p.Val549Phe,ENST00000357249,;KCNQ2,missense_variant,p.Val536Phe,ENST00000344462,;	1874	211	118	SUCCESS
ANGPT4	51378	.	GRCh37	20	869031	869031	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	31	0	ENST00000381922.3:c.517T>C	p.Ser173Pro	p.S173P	ENST00000381922	NM_015985.2	173	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS13009.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGACAGAA	NONE	.	.	hmmpanther:PTHR19143:SF31,hmmpanther:PTHR19143	.	.	ENSP00000371347	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000381922	Transcript	.	.	ENSG00000101280	487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ANGP4_HUMAN	ANGPT4	HGNC	.	.	UPI0000062232	SNV	ANGPT4,missense_variant,p.Ser173Pro,ENST00000546022,;ANGPT4,missense_variant,p.Ser173Pro,ENST00000381922,;	620	31	22	SUCCESS
PLCB4	5332	.	GRCh37	20	9424627	9424627	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs1364775742	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	31	0	ENST00000278655.4:c.2729-1G>T		p.X910_splice	ENST00000278655	NM_182797.2	910		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13104.1	.	RADIA|MUSE	.	GTTTAGGTATT	NONE	.	.	.	.	.	ENSP00000367762	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	HIGH	26/35	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,splice_acceptor_variant,,ENST00000334005,;PLCB4,splice_acceptor_variant,,ENST00000414679,;PLCB4,splice_acceptor_variant,,ENST00000278655,;PLCB4,splice_acceptor_variant,,ENST00000378473,;PLCB4,splice_acceptor_variant,,ENST00000378493,;PLCB4,splice_acceptor_variant,,ENST00000378501,;PLCB4,splice_acceptor_variant,,ENST00000492632,;PLCB4,splice_acceptor_variant,,ENST00000473151,;PLCB4,splice_acceptor_variant,,ENST00000482123,;PLCB4,splice_acceptor_variant,,ENST00000464199,;	.	31	31	SUCCESS
CLDN17	26285	.	GRCh37	21	31538834	31538834	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	107	0	ENST00000286808.3:c.102T>G	p.Ala34=	p.A34=	ENST00000286808	NM_012131.2	34	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13586.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAAGCTGA	NONE	.	.	Prints_domain:PR01385,Pfam_domain:PF00822,hmmpanther:PTHR12002:SF75,hmmpanther:PTHR12002	.	.	ENSP00000286808	.	1/1	.	.	.	.	.	.	.	.	COSM1248388	1/1	PASS	ENST00000286808	Transcript	.	.	ENSG00000156282	2038	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CLD17_HUMAN	CLDN17	HGNC	.	.	UPI000004E655	SNV	CLDN17,synonymous_variant,p.%3D,ENST00000286808,;	138	107	68	SUCCESS
TTC3	7267	.	GRCh37	21	38461097	38461097	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	94	0	ENST00000354749.2:c.339-2A>T		p.X113_splice	ENST00000354749		113		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13651.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAAGCAAT	NONE	.	.	.	.	.	ENSP00000381981	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	HIGH	4/45	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,splice_acceptor_variant,,ENST00000438055,;TTC3,splice_acceptor_variant,,ENST00000354749,;TTC3,splice_acceptor_variant,,ENST00000355666,;TTC3,splice_acceptor_variant,,ENST00000418766,;TTC3,splice_acceptor_variant,,ENST00000399010,;TTC3,splice_acceptor_variant,,ENST00000450533,;TTC3,splice_acceptor_variant,,ENST00000399017,;TTC3,intron_variant,,ENST00000540756,;TTC3,splice_acceptor_variant,,ENST00000479930,;TTC3,splice_acceptor_variant,,ENST00000485402,;TTC3,splice_acceptor_variant,,ENST00000484047,;TTC3,intron_variant,,ENST00000492275,;TTC3,intron_variant,,ENST00000481605,;TTC3,intron_variant,,ENST00000494243,;TTC3,intron_variant,,ENST00000463216,;TTC3,upstream_gene_variant,,ENST00000491952,;TTC3,upstream_gene_variant,,ENST00000460328,;	.	94	63	SUCCESS
PDE9A	5152	.	GRCh37	21	44108091	44108091	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770883595	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	47	0	ENST00000291539.6:c.205G>A	p.Ala69Thr	p.A69T	ENST00000291539	NM_002606.2	69	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13690.1	205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGCGAAT	NONE	.	.	.	.	.	ENSP00000291539	.	3/20	.	.	.	.	.	.	.	.	rs770883595	3/20	PASS	ENST00000291539	Transcript	.	.	ENSG00000160191	8795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.32)	.	PDE9A_HUMAN	PDE9A	HGNC	.	.	UPI0000127C02	SNV	PDE9A,missense_variant,p.Ala69Thr,ENST00000335512,;PDE9A,missense_variant,p.Ala28Thr,ENST00000398234,;PDE9A,missense_variant,p.Ala34Thr,ENST00000539837,;PDE9A,missense_variant,p.Ala69Thr,ENST00000291539,;PDE9A,missense_variant,p.Ala28Thr,ENST00000398225,;PDE9A,missense_variant,p.Ala28Thr,ENST00000398229,;PDE9A,missense_variant,p.Arg45His,ENST00000335440,;PDE9A,missense_variant,p.Ala69Thr,ENST00000380328,;PDE9A,intron_variant,,ENST00000398224,;PDE9A,intron_variant,,ENST00000349112,;PDE9A,intron_variant,,ENST00000398232,;PDE9A,intron_variant,,ENST00000398236,;PDE9A,intron_variant,,ENST00000398227,;PDE9A,intron_variant,,ENST00000328862,;PDE9A,non_coding_transcript_exon_variant,,ENST00000470987,;PDE9A,non_coding_transcript_exon_variant,,ENST00000486902,;PDE9A,non_coding_transcript_exon_variant,,ENST00000497805,;PDE9A,non_coding_transcript_exon_variant,,ENST00000472401,;PDE9A,non_coding_transcript_exon_variant,,ENST00000467162,;PDE9A,intron_variant,,ENST00000460905,;PDE9A,intron_variant,,ENST00000462571,;PDE9A,intron_variant,,ENST00000495521,;PDE9A,intron_variant,,ENST00000490803,;PDE9A,intron_variant,,ENST00000468805,;PDE9A,intron_variant,,ENST00000460989,;PDE9A,intron_variant,,ENST00000467403,;	265	47	29	SUCCESS
SIK1	150094	.	GRCh37	21	44845966	44845966	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	60	0	ENST00000270162.6:c.93G>A	p.Arg31=	p.R31=	ENST00000270162	NM_173354.3	31	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33575.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTCCGCTC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF037014,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0,PROSITE_profiles:PS50011	.	.	ENSP00000270162	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000270162	Transcript	.	.	ENSG00000142178	11142	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIK1_HUMAN	SIK1	HGNC	.	.	UPI0000206F2B	SNV	SIK1,synonymous_variant,p.%3D,ENST00000270162,;SIK1,upstream_gene_variant,,ENST00000478426,;	226	60	41	SUCCESS
KRTAP10-4	386672	.	GRCh37	21	45993847	45993847	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	22	0	ENST00000400374.3:c.213del	p.Cys72AlafsTer108	p.C72Afs*108	ENST00000400374	NM_198687.1	71	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS42957.1	212	INDELOCATOR|VARSCANI	.	CAGTGACCTGCG	NONE	.	.	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF19	.	.	ENSP00000383225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400374	Transcript	.	.	ENSG00000215454	20521	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR104_HUMAN	KRTAP10-4	HGNC	.	.	UPI000021C43B	deletion	KRTAP10-4,frameshift_variant,p.Cys72AlafsTer108,ENST00000400374,;TSPEAR,intron_variant,,ENST00000323084,;TSPEAR,upstream_gene_variant,,ENST00000397916,;	242	22	16	SUCCESS
ADRBK2	0	.	GRCh37	22	25960980	25960980	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1189055661	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	33	0	ENST00000324198.6:c.-28G>A		p.*10*	ENST00000324198	NM_005160.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13832.1	.	MUTECT|MUSE	.	TAACCGCCGCC	NONE	.	.	.	.	.	ENSP00000317578	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000324198	Transcript	.	.	ENSG00000100077	290	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARBK2_HUMAN	ADRBK2	HGNC	Q8N433_HUMAN	.	UPI0000050EDB	SNV	ADRBK2,5_prime_UTR_variant,,ENST00000324198,;CTA-407F11.8,upstream_gene_variant,,ENST00000422876,;CTA-407F11.8,upstream_gene_variant,,ENST00000453811,;CTA-407F11.8,upstream_gene_variant,,ENST00000412773,;ADRBK2,upstream_gene_variant,,ENST00000455558,;	165	33	24	SUCCESS
XPNPEP3	63929	.	GRCh37	22	41318489	41318489	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	46	0	ENST00000357137.4:c.1208A>C	p.Lys403Thr	p.K403T	ENST00000357137	NM_022098.3	403	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS14007.1	1208	MUTECT|MUSE|VARSCANS	.	CATGAAGAACA	NONE	.	.	hmmpanther:PTHR10804,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920	.	.	ENSP00000349658	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000357137	Transcript	.	.	ENSG00000196236	28052	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	.	tolerated(0.12)	.	XPP3_HUMAN	XPNPEP3	HGNC	B7ZBB4_HUMAN	.	UPI00000401E0	SNV	XPNPEP3,missense_variant,p.Lys403Thr,ENST00000357137,;XPNPEP3,missense_variant,p.Lys380Thr,ENST00000544094,;RNU6-379P,downstream_gene_variant,,ENST00000363813,;XPNPEP3,3_prime_UTR_variant,,ENST00000428799,;	1292	46	64	SUCCESS
MEI1	150365	.	GRCh37	22	42177763	42177763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	72	102	0	ENST00000401548.3:c.3001G>A	p.Ala1001Thr	p.A1001T	ENST00000401548	NM_152513.3	1001	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46718.1	3001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGCAGAT	NONE	.	.	hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10	.	.	ENSP00000384115	.	24/31	.	.	.	.	.	.	.	.	.	24/31	PASS	ENST00000401548	Transcript	.	.	ENSG00000167077	28613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.37)	.	MEI1_HUMAN	MEI1	HGNC	.	.	UPI00006E232C	SNV	MEI1,missense_variant,p.Ala9Thr,ENST00000300398,;MEI1,missense_variant,p.Ala9Thr,ENST00000403492,;MEI1,missense_variant,p.Ala1001Thr,ENST00000401548,;MEI1,missense_variant,p.Ala334Thr,ENST00000400107,;MEI1,3_prime_UTR_variant,,ENST00000540880,;MEI1,non_coding_transcript_exon_variant,,ENST00000487535,;MEI1,non_coding_transcript_exon_variant,,ENST00000484966,;MEI1,non_coding_transcript_exon_variant,,ENST00000498456,;MEI1,non_coding_transcript_exon_variant,,ENST00000476893,;MEI1,downstream_gene_variant,,ENST00000462246,;MEI1,non_coding_transcript_exon_variant,,ENST00000462450,;MEI1,downstream_gene_variant,,ENST00000473736,;	3041	102	125	SUCCESS
SCUBE1	80274	.	GRCh37	22	43608598	43608598	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs752389163	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	39	0	ENST00000360835.4:c.2054G>T	p.Gly685Val	p.G685V	ENST00000360835	NM_173050.3	685	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14048.1	2054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCCTGAA	NONE	.	.	hmmpanther:PTHR24046:SF4,hmmpanther:PTHR24046,Superfamily_domains:SSF57184	.	.	ENSP00000354080	.	17/22	.	.	.	.	.	.	.	.	rs752389163	17/22	PASS	ENST00000360835	Transcript	.	.	ENSG00000159307	13441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	SCUB1_HUMAN	SCUBE1	HGNC	.	.	UPI000020790F	SNV	SCUBE1,missense_variant,p.Gly685Val,ENST00000360835,;Z82214.3,upstream_gene_variant,,ENST00000420269,;	2181	39	36	SUCCESS
TYMP	1890	.	GRCh37	22	50967719	50967743	+	frameshift_variant	Frame_Shift_Del	DEL	GTCTCCTCCAGATCCATGCCCCGAA	GTCTCCTCCAGATCCATGCCCCGAA	-	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	GTCTCCTCCAGATCCATGCCCCGAA	GTCTCCTCCAGATCCATGCCCCGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	61	0	ENST00000252029.3:c.239_263del	p.Leu80ProfsTer4	p.L80Pfs*4	ENST00000252029	NM_001953.4	80	cTTCGGGGCATGGATCTGGAGGAGACc/cc	0	.	.	.	.	.	-	LRGMDLEET/X	protein_coding	YES	CCDS58811.1	239-263	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGG	NONE	.	.	Superfamily_domains:SSF47648,PIRSF_domain:PIRSF000478,TIGRFAM_domain:TIGR02644,Gene3D:1.20.970.10,Pfam_domain:PF02885,hmmpanther:PTHR10515:SF1,hmmpanther:PTHR10515	.	.	ENSP00000379038	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000395681	Transcript	.	.	ENSG00000025708	3148	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TYPH_HUMAN	TYMP	HGNC	.	.	UPI000155D5D9	deletion	TYMP,frameshift_variant,p.Leu80ProfsTer4,ENST00000425169,;TYMP,frameshift_variant,p.Leu80ProfsTer4,ENST00000252029,;TYMP,frameshift_variant,p.Leu80ProfsTer4,ENST00000395678,;TYMP,frameshift_variant,p.Leu80ProfsTer4,ENST00000395681,;TYMP,frameshift_variant,p.Leu80ProfsTer4,ENST00000395680,;ODF3B,downstream_gene_variant,,ENST00000428989,;ODF3B,downstream_gene_variant,,ENST00000403326,;SCO2,upstream_gene_variant,,ENST00000395693,;ODF3B,downstream_gene_variant,,ENST00000401779,;ODF3B,downstream_gene_variant,,ENST00000405135,;SCO2,upstream_gene_variant,,ENST00000252785,;SCO2,upstream_gene_variant,,ENST00000423348,;SCO2,upstream_gene_variant,,ENST00000543927,;ODF3B,downstream_gene_variant,,ENST00000437588,;SCO2,upstream_gene_variant,,ENST00000439934,;SCO2,upstream_gene_variant,,ENST00000535425,;ODF3B,downstream_gene_variant,,ENST00000329363,;CTA-384D8.36,downstream_gene_variant,,ENST00000608319,;TYMP,non_coding_transcript_exon_variant,,ENST00000487577,;TYMP,non_coding_transcript_exon_variant,,ENST00000487162,;TYMP,non_coding_transcript_exon_variant,,ENST00000476284,;ODF3B,downstream_gene_variant,,ENST00000469660,;ODF3B,downstream_gene_variant,,ENST00000463472,;ODF3B,downstream_gene_variant,,ENST00000468249,;	361-385	61	39	SUCCESS
IL1RL2	8808	.	GRCh37	2	102808473	102808473	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	40	193	0	ENST00000264257.2:c.382T>A	p.Leu128Ile	p.L128I	ENST00000264257	NM_003854.2	128	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS2056.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATTTATCA	NONE	.	.	Pfam_domain:PF13895,hmmpanther:PTHR11890:SF9,hmmpanther:PTHR11890,PROSITE_profiles:PS50835	.	.	ENSP00000264257	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000264257	Transcript	.	.	ENSG00000115598	5999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.43)	.	ILRL2_HUMAN	IL1RL2	HGNC	C9K0I8_HUMAN	.	UPI000013D4ED	SNV	IL1RL2,missense_variant,p.Leu128Ile,ENST00000264257,;IL1RL2,missense_variant,p.Leu128Ile,ENST00000539491,;IL1RL2,missense_variant,p.Leu128Ile,ENST00000421464,;IL1RL2,intron_variant,,ENST00000441515,;IL1RL2,intron_variant,,ENST00000481806,;	508	193	200	SUCCESS
GALNT13	114805	.	GRCh37	2	155098670	155098670	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	87	0	ENST00000392825.3:c.439C>A	p.Leu147Ile	p.L147I	ENST00000392825	NM_052917.2	147	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS2199.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTACTCTCA	BUFFER|p.E149D|c.447G>T|4	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21	.	.	ENSP00000376570	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000392825	Transcript	.	.	ENSG00000144278	23242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.239)	.	tolerated(0.43)	.	GLT13_HUMAN	GALNT13	HGNC	Q68VI8_HUMAN	.	UPI0000051E22	SNV	GALNT13,missense_variant,p.Leu147Ile,ENST00000392825,;GALNT13,missense_variant,p.Leu147Ile,ENST00000409237,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;	1006	87	72	SUCCESS
TTN	7273	.	GRCh37	2	179604561	179604561	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	21	123	0	ENST00000591111.1:c.12448del	p.Ala4150LeufsTer3	p.A4150Lfs*3	ENST00000591111		4150	Gct/ct	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS59435.1	13399	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTAGCCATTT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	48/363	.	.	.	.	.	.	.	.	.	48/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	deletion	TTN,frameshift_variant,p.Ala4229LeufsTer3,ENST00000359218,;TTN,frameshift_variant,p.Ala4296LeufsTer3,ENST00000342175,;TTN,frameshift_variant,p.Ala4467LeufsTer3,ENST00000589042,;TTN,frameshift_variant,p.Ala4150LeufsTer3,ENST00000591111,;TTN,frameshift_variant,p.Ala4104LeufsTer3,ENST00000460472,;TTN,intron_variant,,ENST00000342992,;TTN,downstream_gene_variant,,ENST00000360870,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;	13624	123	125	SUCCESS
ALS2CR12	0	.	GRCh37	2	202211384	202211384	+	synonymous_variant	Silent	SNP	C	C	A	rs552883600	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	58	0	ENST00000405148.2:c.249G>T	p.Val83=	p.V83=	ENST00000405148	NM_139163.2	83	gtG/gtT	0	.	T:0.0008	.	T:0	.	A	V	protein_coding	YES	CCDS2346.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGACACGTT	NONE	by1000G	.	hmmpanther:PTHR21707,hmmpanther:PTHR21707:SF38	T:0	.	ENSP00000385098	T:0	5/15	.	.	.	.	.	.	.	.	rs552883600	5/15	PASS	ENST00000405148	Transcript	.	T:0.0002	ENSG00000155749	14439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	AL2SB_HUMAN	ALS2CR12	HGNC	C9JTY0_HUMAN	.	UPI00001AEADD	SNV	ALS2CR12,synonymous_variant,p.%3D,ENST00000405148,;ALS2CR12,synonymous_variant,p.%3D,ENST00000439709,;ALS2CR12,synonymous_variant,p.%3D,ENST00000286190,;ALS2CR12,synonymous_variant,p.%3D,ENST00000425488,;ALS2CR12,synonymous_variant,p.%3D,ENST00000392257,;ALS2CR12,downstream_gene_variant,,ENST00000418364,;ALS2CR12,non_coding_transcript_exon_variant,,ENST00000448967,;ALS2CR12,non_coding_transcript_exon_variant,,ENST00000494171,;	693	58	43	SUCCESS
CAD	790	.	GRCh37	2	27456323	27456323	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	61	0	ENST00000264705.4:c.3135T>G	p.Ala1045=	p.A1045=	ENST00000264705	NM_004341.3	1045	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS1742.1	3135	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCTGAGAA	NONE	.	.	hmmpanther:PTHR11405:SF5,hmmpanther:PTHR11405,Gene3D:3.30.470.20,TIGRFAM_domain:TIGR01369,Superfamily_domains:SSF52440	.	.	ENSP00000264705	.	20/44	.	.	.	.	.	.	.	.	.	20/44	PASS	ENST00000264705	Transcript	.	.	ENSG00000084774	1424	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PYR1_HUMAN	CAD	HGNC	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN	.	UPI000013D558	SNV	CAD,synonymous_variant,p.%3D,ENST00000264705,;CAD,synonymous_variant,p.%3D,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,non_coding_transcript_exon_variant,,ENST00000475695,;CAD,upstream_gene_variant,,ENST00000479002,;CAD,downstream_gene_variant,,ENST00000491891,;	3297	61	49	SUCCESS
EIF2B4	8890	.	GRCh37	2	27590910	27590910	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	90	0	ENST00000347454.4:c.687G>T	p.Leu229=	p.L229=	ENST00000347454	NM_015636.3	229	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46245.1	747	MUTECT|MUSE	.	CGAAGCAGGGC	NONE	.	.	hmmpanther:PTHR10233:SF14,hmmpanther:PTHR10233,Pfam_domain:PF01008,Superfamily_domains:SSF100950	.	.	ENSP00000394869	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000451130	Transcript	.	.	ENSG00000115211	3260	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EI2BD_HUMAN	EIF2B4	HGNC	.	.	UPI0000366EE5	SNV	EIF2B4,synonymous_variant,p.%3D,ENST00000445933,;EIF2B4,synonymous_variant,p.%3D,ENST00000493344,;EIF2B4,synonymous_variant,p.%3D,ENST00000347454,;EIF2B4,synonymous_variant,p.%3D,ENST00000451130,;SNX17,upstream_gene_variant,,ENST00000537606,;SNX17,upstream_gene_variant,,ENST00000542478,;SNX17,upstream_gene_variant,,ENST00000543024,;SNX17,upstream_gene_variant,,ENST00000233575,;AC074117.10,downstream_gene_variant,,ENST00000412749,;EIF2B4,missense_variant,p.Ala221Ser,ENST00000405940,;EIF2B4,synonymous_variant,p.%3D,ENST00000417567,;EIF2B4,non_coding_transcript_exon_variant,,ENST00000475582,;SNX17,upstream_gene_variant,,ENST00000453453,;SNX17,upstream_gene_variant,,ENST00000484886,;SNX17,upstream_gene_variant,,ENST00000464279,;SNX17,upstream_gene_variant,,ENST00000440760,;EIF2B4,upstream_gene_variant,,ENST00000478311,;EIF2B4,downstream_gene_variant,,ENST00000418146,;SNX17,upstream_gene_variant,,ENST00000494893,;EIF2B4,downstream_gene_variant,,ENST00000462749,;SNX17,upstream_gene_variant,,ENST00000489402,;SNX17,upstream_gene_variant,,ENST00000427123,;	747	90	95	SUCCESS
XDH	7498	.	GRCh37	2	31596741	31596741	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	53	0	ENST00000379416.3:c.1684C>A	p.Gln562Lys	p.Q562K	ENST00000379416	NM_000379.3	562	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1775.1	1684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGGAAGA	NONE	.	.	Superfamily_domains:SSF54665,PIRSF_domain:PIRSF000127,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908	.	.	ENSP00000368727	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000379416	Transcript	.	.	ENSG00000158125	12805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious(0.03)	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,missense_variant,p.Gln562Lys,ENST00000379416,;	1733	53	41	SUCCESS
ZFP36L2	678	.	GRCh37	2	43452474	43452474	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	42	0	ENST00000282388.3:c.469G>C	p.Glu157Gln	p.E157Q	ENST00000282388	NM_006887.4	157	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS1811.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCGGTCT	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF58,Pfam_domain:PF00642,Gene3D:1m9oA00,SMART_domains:SM00356,Superfamily_domains:SSF90229	.	.	ENSP00000282388	.	2/2	.	.	.	.	.	.	.	.	COSM1483097,COSM721843	2/2	PASS	ENST00000282388	Transcript	.	.	ENSG00000152518	1108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.99)	.	deleterious(0)	1,1	TISD_HUMAN	ZFP36L2	HGNC	.	.	UPI000013DCDA	SNV	ZFP36L2,missense_variant,p.Glu157Gln,ENST00000282388,;THADA,intron_variant,,ENST00000330266,;AC010883.5,upstream_gene_variant,,ENST00000423354,;	763	42	27	SUCCESS
LRPPRC	10128	.	GRCh37	2	44176800	44176800	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	95	0	ENST00000260665.7:c.1678-2A>C		p.X560_splice	ENST00000260665	NM_133259.3	560		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33189.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTGGTAA	NONE	.	.	.	.	.	ENSP00000260665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	HIGH	15/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,splice_acceptor_variant,,ENST00000260665,;LRPPRC,splice_acceptor_variant,,ENST00000467058,;	.	95	101	SUCCESS
AHSA2	0	.	GRCh37	2	61413791	61413791	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs747016515	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	114	0	ENST00000394457.3:c.284T>A	p.Leu95Gln	p.L95Q	ENST00000394457		95	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1868.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCTAGGGC	NONE	byFrequency	.	hmmpanther:PTHR13009:SF4,hmmpanther:PTHR13009,Superfamily_domains:SSF55961	.	.	ENSP00000377970	.	6/6	.	.	.	.	.	.	.	.	rs747016515,COSM3582481,COSM3582482	6/6	PASS	ENST00000394457	Transcript	.	.	ENSG00000173209	20437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.03)	.	tolerated(0.54)	0,1,1	AHSA2_HUMAN	AHSA2	HGNC	.	.	UPI000006DEC9	SNV	AHSA2,missense_variant,p.Leu95Gln,ENST00000357022,;AHSA2,missense_variant,p.Leu104Gln,ENST00000410073,;AHSA2,missense_variant,p.Leu95Gln,ENST00000394457,;USP34,downstream_gene_variant,,ENST00000411912,;USP34,downstream_gene_variant,,ENST00000398571,;USP34,downstream_gene_variant,,ENST00000436269,;AHSA2,non_coding_transcript_exon_variant,,ENST00000491217,;AHSA2,non_coding_transcript_exon_variant,,ENST00000489653,;AHSA2,non_coding_transcript_exon_variant,,ENST00000493628,;USP34,downstream_gene_variant,,ENST00000492604,;AHSA2,downstream_gene_variant,,ENST00000493310,;AHSA2,non_coding_transcript_exon_variant,,ENST00000484217,;AHSA2,non_coding_transcript_exon_variant,,ENST00000471542,;USP34,downstream_gene_variant,,ENST00000498268,;USP34,downstream_gene_variant,,ENST00000490552,;USP34,downstream_gene_variant,,ENST00000463046,;AHSA2,downstream_gene_variant,,ENST00000487904,;	2027	114	82	SUCCESS
DNAH6	1768	.	GRCh37	2	84775472	84775472	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	17	114	0	ENST00000237449.6:c.1247A>T	p.Tyr416Phe	p.Y416F	ENST00000237449		416	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS46348.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTATGGAG	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676	.	.	ENSP00000374045	.	8/77	.	.	.	.	.	.	.	.	.	8/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.62)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Tyr416Phe,ENST00000237449,;DNAH6,missense_variant,p.Tyr416Phe,ENST00000398278,;DNAH6,missense_variant,p.Tyr416Phe,ENST00000389394,;DNAH6,downstream_gene_variant,,ENST00000468661,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,non_coding_transcript_exon_variant,,ENST00000494025,;	1384	114	102	SUCCESS
IGKV2-24	28923	.	GRCh37	2	89475865	89475865	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	107	211	0	ENST00000484817.1:c.307G>T	p.Val103Leu	p.V103L	ENST00000484817		103	Gtg/Ttg	0	.	.	.	.	.	A	V/L	IG_V_gene	YES	.	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACCCTGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000419300	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000484817	Transcript	.	.	ENSG00000241294	5781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.19)	.	.	IGKV2-24	HGNC	.	.	UPI0000115DCF	SNV	IGKV2-24,missense_variant,p.Val103Leu,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,;	337	211	227	SUCCESS
IGKV2-24	28923	.	GRCh37	2	89475866	89475866	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765160922	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	107	217	0	ENST00000484817.1:c.306G>T	p.Arg102Ser	p.R102S	ENST00000484817		102	agG/agT	0	.	.	.	.	.	A	R/S	IG_V_gene	YES	.	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCCTGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000419300	.	2/2	.	.	.	.	.	.	.	.	rs765160922	2/2	PASS	ENST00000484817	Transcript	.	.	ENSG00000241294	5781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.36)	.	.	IGKV2-24	HGNC	.	.	UPI0000115DCF	SNV	IGKV2-24,missense_variant,p.Arg102Ser,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,;	336	217	230	SUCCESS
CNGA3	1261	.	GRCh37	2	99013018	99013018	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	15	96	0	ENST00000272602.2:c.1385A>G	p.Asp462Gly	p.D462G	ENST00000272602		462	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2034.1	1385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACAAGC	NONE	.	.	Superfamily_domains:SSF51206,Gene3D:3bpzA01,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Asp466Gly,ENST00000409937,;CNGA3,missense_variant,p.Asp444Gly,ENST00000436404,;CNGA3,missense_variant,p.Asp462Gly,ENST00000393504,;CNGA3,missense_variant,p.Asp462Gly,ENST00000272602,;	1802	96	100	SUCCESS
SLC6A11	6538	.	GRCh37	3	10970961	10970961	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202136147	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	99	0	ENST00000254488.2:c.1307G>A	p.Arg436Gln	p.R436Q	ENST00000254488	NM_014229.1	436	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS2602.1	1307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGGGAGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	A:0	.	ENSP00000254488	A:0.001	10/14	.	.	.	.	.	.	.	.	rs202136147	10/14	PASS	ENST00000254488	Transcript	.	A:0.0002	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	A:0	deleterious(0.01)	.	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Arg436Gln,ENST00000254488,;SLC6A11,upstream_gene_variant,,ENST00000464828,;	1373	99	103	SUCCESS
IQCB1	9657	.	GRCh37	3	121514404	121514404	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1441832156	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	12	200	0	ENST00000310864.6:c.886C>T	p.Gln296Ter	p.Q296*	ENST00000310864	NM_001023570.2	296	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS33837.1	886	MUTECT|MUSE	.	TGCTTGATGTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00015,Pfam_domain:PF00612,hmmpanther:PTHR15673,hmmpanther:PTHR15673:SF1,PROSITE_profiles:PS50096	.	.	ENSP00000311505	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000310864	Transcript	.	.	ENSG00000173226	28949	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IQCB1_HUMAN	IQCB1	HGNC	C9JXD7_HUMAN,C9JVC4_HUMAN,C9J6Z7_HUMAN	.	UPI0000139154	SNV	IQCB1,stop_gained,p.Gln296Ter,ENST00000310864,;IQCB1,stop_gained,p.Gln112Ter,ENST00000460108,;IQCB1,intron_variant,,ENST00000349820,;IQCB1,downstream_gene_variant,,ENST00000498104,;IQCB1,intron_variant,,ENST00000393650,;	1101	200	188	SUCCESS
PPP2R3A	5523	.	GRCh37	3	135721147	135721147	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	23	111	0	ENST00000264977.3:c.807T>C	p.Asp269=	p.D269=	ENST00000264977	NM_001190447.1	269	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3087.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATACAAT	NONE	.	.	hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3	.	.	ENSP00000264977	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000264977	Transcript	.	.	ENSG00000073711	9307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2R3A_HUMAN	PPP2R3A	HGNC	.	.	UPI0000124EAC	SNV	PPP2R3A,synonymous_variant,p.%3D,ENST00000264977,;PPP2R3A,intron_variant,,ENST00000490467,;	1424	111	109	SUCCESS
TRIM42	287015	.	GRCh37	3	140396893	140396893	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	20	0	ENST00000286349.3:c.-179T>C		p.*60*	ENST00000286349	NM_152616.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTATGAGCT	NONE	.	.	.	.	.	ENSP00000286349	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,5_prime_UTR_variant,,ENST00000286349,;	13	20	16	SUCCESS
SSR3	6747	.	GRCh37	3	156271447	156271447	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	128	0	ENST00000265044.2:c.257A>C	p.His86Pro	p.H86P	ENST00000265044	NM_007107.3	86	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS3176.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTGCTTG	NONE	.	.	Pfam_domain:PF07074,hmmpanther:PTHR13399,hmmpanther:PTHR13399:SF2	.	.	ENSP00000265044	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000265044	Transcript	.	.	ENSG00000114850	11325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SSRG_HUMAN	SSR3	HGNC	C9J365_HUMAN	.	UPI0000136005	SNV	SSR3,missense_variant,p.His86Pro,ENST00000265044,;SSR3,missense_variant,p.His34Pro,ENST00000463503,;SSR3,missense_variant,p.His34Pro,ENST00000496050,;SSR3,missense_variant,p.His86Pro,ENST00000467789,;SSR3,missense_variant,p.His86Pro,ENST00000476217,;SSR3,upstream_gene_variant,,ENST00000464138,;SSR3,upstream_gene_variant,,ENST00000478842,;SSR3,non_coding_transcript_exon_variant,,ENST00000467733,;SSR3,upstream_gene_variant,,ENST00000498205,;	352	128	94	SUCCESS
MCF2L2	23101	.	GRCh37	3	183145807	183145807	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	29	0	ENST00000328913.3:c.-42G>C		p.*14*	ENST00000328913	NM_015078.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3243.1	.	RADIA|VARSCANS	.	CAAAACTGTTT	NONE	.	.	.	.	.	ENSP00000328118	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,5_prime_UTR_variant,,ENST00000414362,;MCF2L2,5_prime_UTR_variant,,ENST00000447025,;MCF2L2,5_prime_UTR_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000482017,;MCF2L2,upstream_gene_variant,,ENST00000473233,;	257	29	30	SUCCESS
TP63	8626	.	GRCh37	3	189590736	189590736	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558374141	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	111	267	0	ENST00000264731.3:c.1301C>T	p.Thr434Met	p.T434M	ENST00000264731	NM_003722.4	434	aCg/aTg	0	.	T:0	.	T:0	.	T	T/M	protein_coding	YES	CCDS3293.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAACGTACA	NONE	by1000G	.	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8	T:0	.	ENSP00000264731	T:0	10/14	.	.	.	.	.	.	.	.	rs558374141,COSM3591209,COSM3591210,COSM3591211	10/14	PASS	ENST00000264731	Transcript	.	T:0.0002	ENSG00000073282	15979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.628)	T:0.001	deleterious(0.02)	0,1,1,1	P63_HUMAN	TP63	HGNC	.	.	UPI0000073CF2	SNV	TP63,missense_variant,p.Thr340Met,ENST00000392461,;TP63,missense_variant,p.Thr340Met,ENST00000354600,;TP63,missense_variant,p.Thr336Met,ENST00000456148,;TP63,missense_variant,p.Thr434Met,ENST00000392460,;TP63,missense_variant,p.Thr434Met,ENST00000320472,;TP63,missense_variant,p.Thr430Met,ENST00000440651,;TP63,missense_variant,p.Thr255Met,ENST00000449992,;TP63,missense_variant,p.Thr434Met,ENST00000264731,;TP63,missense_variant,p.Thr434Met,ENST00000418709,;TP63,missense_variant,p.Thr340Met,ENST00000437221,;TP63,missense_variant,p.Thr349Met,ENST00000382063,;TP63,missense_variant,p.Thr340Met,ENST00000392463,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;	1390	267	282	SUCCESS
ATP13A5	344905	.	GRCh37	3	193025125	193025125	+	synonymous_variant	Silent	SNP	G	G	A	rs766721308	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	83	0	ENST00000342358.4:c.2559C>T	p.Asn853=	p.N853=	ENST00000342358	NM_198505.2	853	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS33914.1	2559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGTTAGC	NONE	byFrequency	.	Prints_domain:PR00119,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,Pfam_domain:PF12710,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093	.	.	ENSP00000341942	.	22/30	.	.	.	.	.	.	.	.	rs766721308,COSM1283566	22/30	PASS	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,synonymous_variant,p.%3D,ENST00000342358,;ATP13A5-AS1,non_coding_transcript_exon_variant,,ENST00000414634,;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;	2677	83	102	SUCCESS
LRRC3B	116135	.	GRCh37	3	26751375	26751375	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	86	0	ENST00000396641.2:c.212T>A	p.Leu71Gln	p.L71Q	ENST00000396641	NM_052953.2	71	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS2644.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTGGACT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF134,hmmpanther:PTHR24365,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000379880	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396641	Transcript	.	.	ENSG00000179796	28105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRC3B_HUMAN	LRRC3B	HGNC	C9JMC7_HUMAN,C9J6A1_HUMAN	.	UPI000000D990	SNV	LRRC3B,missense_variant,p.Leu71Gln,ENST00000396641,;LRRC3B,missense_variant,p.Leu71Gln,ENST00000456208,;LRRC3B,missense_variant,p.Leu71Gln,ENST00000417744,;LRRC3B,missense_variant,p.Leu71Gln,ENST00000432040,;LRRC3B,downstream_gene_variant,,ENST00000414619,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	804	86	66	SUCCESS
SCN11A	11280	.	GRCh37	3	38938564	38938564	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	184	0	ENST00000302328.3:c.2175T>A	p.Arg725=	p.R725=	ENST00000302328	NM_014139.2	725	cgT/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33737.1	2175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTACGGCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000307599	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,synonymous_variant,p.%3D,ENST00000450244,;SCN11A,synonymous_variant,p.%3D,ENST00000302328,;SCN11A,synonymous_variant,p.%3D,ENST00000444237,;SCN11A,synonymous_variant,p.%3D,ENST00000456224,;	2374	184	89	SUCCESS
CELSR3	1951	.	GRCh37	3	48697293	48697293	+	synonymous_variant	Silent	SNP	C	C	T	rs200302496	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	70	185	0	ENST00000164024.4:c.2775G>A	p.Val925=	p.V925=	ENST00000164024	NM_001407.2	925	gtG/gtA	0	.	T:0	.	T:0	.	T	V	protein_coding	YES	CCDS2775.1	2775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCACCTG	NONE	byCluster|by1000G	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50268	T:0.001	.	ENSP00000164024	T:0	1/35	.	.	.	.	.	.	.	.	rs200302496	1/35	PASS	ENST00000164024	Transcript	.	T:0.0002	ENSG00000008300	3230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,synonymous_variant,p.%3D,ENST00000544264,;CELSR3,synonymous_variant,p.%3D,ENST00000164024,;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	3056	185	142	SUCCESS
CHDH	55349	.	GRCh37	3	53851839	53851839	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	43	0	ENST00000315251.6:c.1750G>A	p.Val584Ile	p.V584I	ENST00000315251	NM_018397.4	584	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS2873.1	1750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGACAGGGA	NONE	.	.	hmmpanther:PTHR11552,hmmpanther:PTHR11552:SF14	.	.	ENSP00000319851	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000315251	Transcript	.	.	ENSG00000016391	24288	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.09)	.	CHDH_HUMAN	CHDH	HGNC	C9JYW4_HUMAN,C9J7D8_HUMAN,B4DMQ4_HUMAN	.	UPI000013C538	SNV	CHDH,missense_variant,p.Val584Ile,ENST00000315251,;CACNA1D,downstream_gene_variant,,ENST00000288139,;	2188	43	51	SUCCESS
IL17RD	54756	.	GRCh37	3	57139919	57139919	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	124	0	ENST00000296318.7:c.713A>G	p.His238Arg	p.H238R	ENST00000296318	NM_017563.3	238	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2880.2	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCGTGCTTG	NONE	.	.	hmmpanther:PTHR15583:SF8,hmmpanther:PTHR15583	.	.	ENSP00000296318	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000296318	Transcript	.	.	ENSG00000144730	17616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.754)	.	tolerated(0.28)	.	I17RD_HUMAN	IL17RD	HGNC	C9J6R0_HUMAN	.	UPI0000047CC3	SNV	IL17RD,missense_variant,p.His94Arg,ENST00000463523,;IL17RD,missense_variant,p.His94Arg,ENST00000320057,;IL17RD,missense_variant,p.His214Arg,ENST00000427856,;IL17RD,missense_variant,p.His238Arg,ENST00000296318,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	802	124	83	SUCCESS
RNF150	57484	.	GRCh37	4	141888999	141888999	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	82	0	ENST00000515673.2:c.513T>C	p.Ile171=	p.I171=	ENST00000515673		171	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS34065.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAATCAT	NONE	.	.	hmmpanther:PTHR22765:SF42,hmmpanther:PTHR22765,Pfam_domain:PF02225,Gene3D:3.50.30.30,Superfamily_domains:SSF52025	.	.	ENSP00000425840	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000515673	Transcript	.	.	ENSG00000170153	23138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN150_HUMAN	RNF150	HGNC	D6RIE5_HUMAN	.	UPI00004C9B0C	SNV	RNF150,synonymous_variant,p.%3D,ENST00000379512,;RNF150,synonymous_variant,p.%3D,ENST00000306799,;RNF150,synonymous_variant,p.%3D,ENST00000507500,;RNF150,synonymous_variant,p.%3D,ENST00000515673,;RNF150,synonymous_variant,p.%3D,ENST00000420921,;RNF150,synonymous_variant,p.%3D,ENST00000506101,;RNF150,non_coding_transcript_exon_variant,,ENST00000515057,;	547	82	46	SUCCESS
ASB5	140458	.	GRCh37	4	177146466	177146466	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760611722	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	44	160	0	ENST00000296525.3:c.223C>T	p.His75Tyr	p.H75Y	ENST00000296525	NM_080874.3	75	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS3827.1	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATGTAGTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000296525	.	2/7	.	.	.	.	.	.	.	.	rs760611722	2/7	PASS	ENST00000296525	Transcript	.	.	ENSG00000164122	17180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ASB5_HUMAN	ASB5	HGNC	Q5HYF3_HUMAN,D6R9Q2_HUMAN	.	UPI00000015CF	SNV	ASB5,missense_variant,p.His75Tyr,ENST00000296525,;ASB5,missense_variant,p.His22Tyr,ENST00000512254,;ASB5,non_coding_transcript_exon_variant,,ENST00000511879,;ASB5,non_coding_transcript_exon_variant,,ENST00000510578,;	337	160	100	SUCCESS
GPR125	0	.	GRCh37	4	22425952	22425952	+	synonymous_variant	Silent	SNP	A	A	G	rs758415525	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	94	174	0	ENST00000334304.5:c.1467T>C	p.Ile489=	p.I489=	ENST00000334304	NM_145290.3	489	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS33964.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCAATGTC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35	.	.	ENSP00000334952	.	11/19	.	.	.	.	.	.	.	.	rs758415525	11/19	PASS	ENST00000334304	Transcript	.	.	ENSG00000152990	13839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP125_HUMAN	GPR125	HGNC	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN	.	UPI00001D7735	SNV	GPR125,synonymous_variant,p.%3D,ENST00000508133,;GPR125,synonymous_variant,p.%3D,ENST00000334304,;GPR125,synonymous_variant,p.%3D,ENST00000502482,;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;	1737	174	162	SUCCESS
ATP10D	57205	.	GRCh37	4	47525056	47525056	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	120	0	ENST00000273859.3:c.513C>G	p.Cys171Trp	p.C171W	ENST00000273859	NM_020453.3	171	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS3476.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCTGGAA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049471	.	.	ENSP00000273859	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	tolerated(0.17)	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,missense_variant,p.Cys171Trp,ENST00000504445,;ATP10D,missense_variant,p.Cys171Trp,ENST00000273859,;	782	120	68	SUCCESS
HOPX	84525	.	GRCh37	4	57547858	57547858	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	66	0	ENST00000554144.1:c.-521C>A		p.*174*	ENST00000554144	NM_001145460.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54767.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGCGTAG	NONE	.	.	.	.	.	ENSP00000450527	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000554144	Transcript	.	.	ENSG00000171476	24961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HOP_HUMAN	HOPX	HGNC	G3V469_HUMAN	.	UPI000194EC25	SNV	HOPX,5_prime_UTR_variant,,ENST00000557328,;HOPX,5_prime_UTR_variant,,ENST00000554144,;HOPX,5_prime_UTR_variant,,ENST00000381260,;HOPX,5_prime_UTR_variant,,ENST00000337881,;HOPX,5_prime_UTR_variant,,ENST00000420433,;HOPX,upstream_gene_variant,,ENST00000556376,;HOPX,upstream_gene_variant,,ENST00000605395,;HOPX,upstream_gene_variant,,ENST00000506661,;	15	66	57	SUCCESS
MARCH6	0	.	GRCh37	5	10415698	10415698	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1431071773	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	90	0	ENST00000274140.5:c.2065A>G	p.Ile689Val	p.I689V	ENST00000274140	NM_005885.3	689	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34135.1	2065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCATAAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,missense_variant,p.Ile641Val,ENST00000449913,;MARCH6,missense_variant,p.Ile689Val,ENST00000274140,;MARCH6,missense_variant,p.Ile387Val,ENST00000510792,;MARCH6,missense_variant,p.Ile584Val,ENST00000503788,;MARCH6,non_coding_transcript_exon_variant,,ENST00000505253,;MARCH6,non_coding_transcript_exon_variant,,ENST00000512449,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,upstream_gene_variant,,ENST00000514312,;	2197	90	88	SUCCESS
CLPTM1L	81037	.	GRCh37	5	1330438	1330438	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	7	192	0	ENST00000320895.5:c.1037G>C	p.Ser346Thr	p.S346T	ENST00000320895	NM_030782.3	346	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS3862.1	1037	MUTECT|MUSE	.	GCAGGCTCGTC	NONE	.	.	hmmpanther:PTHR21347:SF1,hmmpanther:PTHR21347,Pfam_domain:PF05602	.	.	ENSP00000313854	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000320895	Transcript	.	.	ENSG00000049656	24308	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CLP1L_HUMAN	CLPTM1L	HGNC	B3KY18_HUMAN	.	UPI00000707DF	SNV	CLPTM1L,missense_variant,p.Ser346Thr,ENST00000320895,;CLPTM1L,intron_variant,,ENST00000320927,;CLPTM1L,intron_variant,,ENST00000507807,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000513250,;CLPTM1L,upstream_gene_variant,,ENST00000507195,;CLPTM1L,upstream_gene_variant,,ENST00000506641,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000508765,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503042,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503151,;CLPTM1L,upstream_gene_variant,,ENST00000503534,;CLPTM1L,downstream_gene_variant,,ENST00000511786,;	1295	192	144	SUCCESS
BRD8	10902	.	GRCh37	5	137485482	137485482	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	87	0	ENST00000254900.5:c.3125A>G	p.Glu1042Gly	p.E1042G	ENST00000254900	NM_139199.1	1042	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4198.1	3125	MUTECT|MUSE	.	GAGCCTCCCCC	NONE	.	.	.	.	.	ENSP00000254900	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.32)	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,missense_variant,p.Glu1042Gly,ENST00000254900,;BRD8,missense_variant,p.Glu148Gly,ENST00000427976,;	3497	87	65	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250482	140250482	+	synonymous_variant	Silent	SNP	G	G	A	rs372076650	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	41	0	ENST00000398640.2:c.1794G>A	p.Ala598=	p.A598=	ENST00000398640	NM_018902.3	598	gcG/gcA	0	A:0.0002	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS47284.1	1794	RADIA|MUTECT|MUSE	.	GATGCGGACTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	A:0	A:0	ENSP00000381636	A:0	1/4	.	.	.	.	.	.	.	.	rs372076650	1/4	PASS	ENST00000398640	Transcript	.	A:0.0002	ENSG00000249158	8665	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,synonymous_variant,p.%3D,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA12,upstream_gene_variant,,ENST00000398631,;	1794	41	22	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140798922	140798922	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1561780035	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	91	1	ENST00000398594.2:c.1496G>A	p.Arg499Gln	p.R499Q	ENST00000398594	NM_018927.3	499	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS47293.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACGAACGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.48)	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,missense_variant,p.Arg499Gln,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1496	92	61	SUCCESS
RANBP17	64901	.	GRCh37	5	170668124	170668124	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	44	0	ENST00000523189.1:c.2615C>T	p.Ser872Leu	p.S872L	ENST00000523189	NM_022897.3	872	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS34287.1	2615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCAGTGT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	.	ENSP00000427975	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	deleterious(0)	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,missense_variant,p.Ser872Leu,ENST00000523189,;RANBP17,non_coding_transcript_exon_variant,,ENST00000521759,;RANBP17,non_coding_transcript_exon_variant,,ENST00000521834,;RANBP17,3_prime_UTR_variant,,ENST00000519949,;RANBP17,3_prime_UTR_variant,,ENST00000389118,;RANBP17,3_prime_UTR_variant,,ENST00000522533,;RANBP17,3_prime_UTR_variant,,ENST00000522066,;RANBP17,3_prime_UTR_variant,,ENST00000519256,;	2779	44	33	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73069858	73069858	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	76	0	ENST00000426542.2:c.654C>A	p.Val218=	p.V218=	ENST00000426542		218	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47231.2	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTCACAAA	NONE	.	.	hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825	.	.	ENSP00000441913	.	5/37	.	.	.	.	.	.	.	.	.	5/37	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,synonymous_variant,p.%3D,ENST00000437974,;ARHGEF28,synonymous_variant,p.%3D,ENST00000513042,;ARHGEF28,synonymous_variant,p.%3D,ENST00000287898,;ARHGEF28,synonymous_variant,p.%3D,ENST00000545377,;ARHGEF28,synonymous_variant,p.%3D,ENST00000426542,;ARHGEF28,synonymous_variant,p.%3D,ENST00000296794,;CTC-575I10.1,downstream_gene_variant,,ENST00000506717,;	830	76	61	SUCCESS
AIM1	0	.	GRCh37	6	106969168	106969168	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761878814	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	94	0	ENST00000369066.3:c.2861T>C	p.Leu954Pro	p.L954P	ENST00000369066	NM_001624.2	954	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS34506.1	2861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTGAAGA	NONE	.	.	hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818	.	.	ENSP00000358062	.	2/20	.	.	.	.	.	.	.	.	rs761878814	2/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.22)	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,missense_variant,p.Leu954Pro,ENST00000369066,;	3348	94	103	SUCCESS
NT5DC1	221294	.	GRCh37	6	116439079	116439079	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	75	1	ENST00000319550.4:c.500A>G	p.Gln167Arg	p.Q167R	ENST00000319550	NM_152729.2	167	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS5104.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACAACACA	NONE	.	.	hmmpanther:PTHR12103:SF13,hmmpanther:PTHR12103,Pfam_domain:PF05761,Superfamily_domains:SSF56784	.	.	ENSP00000326858	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000319550	Transcript	.	.	ENSG00000178425	21556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	tolerated(0.23)	.	NT5D1_HUMAN	NT5DC1	HGNC	.	.	UPI000020E135	SNV	NT5DC1,missense_variant,p.Gln167Arg,ENST00000319550,;NT5DC1,missense_variant,p.Gln81Arg,ENST00000417846,;NT5DC1,missense_variant,p.Gln167Arg,ENST00000419791,;COL10A1,downstream_gene_variant,,ENST00000327673,;COL10A1,downstream_gene_variant,,ENST00000452729,;AL121963.1,upstream_gene_variant,,ENST00000430695,;COL10A1,downstream_gene_variant,,ENST00000243222,;NT5DC1,upstream_gene_variant,,ENST00000460749,;	582	76	51	SUCCESS
GPRC6A	222545	.	GRCh37	6	117128020	117128020	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	44	0	ENST00000310357.3:c.848T>A	p.Val283Asp	p.V283D	ENST00000310357	NM_148963.2	283	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS5112.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAACATGG	NONE	.	.	hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000309493	.	3/6	.	.	.	.	.	.	.	.	COSM593821	3/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.991)	.	deleterious(0)	1	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,missense_variant,p.Val283Asp,ENST00000310357,;GPRC6A,missense_variant,p.Val283Asp,ENST00000368549,;GPRC6A,intron_variant,,ENST00000530250,;	870	44	47	SUCCESS
FUCA2	2519	.	GRCh37	6	143828467	143828467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	92	0	ENST00000002165.6:c.319T>A	p.Phe107Ile	p.F107I	ENST00000002165	NM_032020.4	107	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS5200.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAAATAGTG	NONE	.	.	hmmpanther:PTHR10030,hmmpanther:PTHR10030:SF24,Pfam_domain:PF01120,Gene3D:3.20.20.80,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Superfamily_domains:SSF51445	.	.	ENSP00000002165	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000002165	Transcript	.	.	ENSG00000001036	4008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	FUCO2_HUMAN	FUCA2	HGNC	.	.	UPI0000073C10	SNV	FUCA2,missense_variant,p.Phe107Ile,ENST00000438118,;FUCA2,missense_variant,p.Phe107Ile,ENST00000002165,;RP1-20N2.6,downstream_gene_variant,,ENST00000610068,;RP1-20N2.6,downstream_gene_variant,,ENST00000593175,;RP1-20N2.6,downstream_gene_variant,,ENST00000593045,;RP1-20N2.6,downstream_gene_variant,,ENST00000591189,;RP1-20N2.6,downstream_gene_variant,,ENST00000590703,;RP1-20N2.6,downstream_gene_variant,,ENST00000415586,;RP1-20N2.6,downstream_gene_variant,,ENST00000591892,;RP1-20N2.6,downstream_gene_variant,,ENST00000589489,;RP1-20N2.6,downstream_gene_variant,,ENST00000589563,;FUCA2,non_coding_transcript_exon_variant,,ENST00000367585,;	375	92	77	SUCCESS
FBXO30	84085	.	GRCh37	6	146127013	146127013	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	52	0	ENST00000237281.4:c.529G>C	p.Glu177Gln	p.E177Q	ENST00000237281	NM_032145.4	177	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5208.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCTTCAT	NONE	.	.	hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF13	.	.	ENSP00000237281	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000237281	Transcript	.	.	ENSG00000118496	15600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.12)	.	FBX30_HUMAN	FBXO30	HGNC	.	.	UPI0000071E84	SNV	FBXO30,missense_variant,p.Glu177Gln,ENST00000237281,;	696	52	62	SUCCESS
DCDC2	51473	.	GRCh37	6	24278324	24278324	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	105	0	ENST00000378454.3:c.875A>T	p.Lys292Ile	p.K292I	ENST00000378454	NM_001195610.1	292	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS4550.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTTTCAAT	NONE	.	.	hmmpanther:PTHR23004:SF5,hmmpanther:PTHR23004	.	.	ENSP00000367715	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000378454	Transcript	.	.	ENSG00000146038	18141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.01)	.	DCDC2_HUMAN	DCDC2	HGNC	.	.	UPI000013DA24	SNV	DCDC2,missense_variant,p.Lys292Ile,ENST00000378454,;	1177	105	67	SUCCESS
SLC17A1	6568	.	GRCh37	6	25799088	25799088	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	56	0	ENST00000244527.4:c.1329C>G	p.Gly443=	p.G443=	ENST00000244527	NM_005074.3	443	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS4565.1	1329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGGCCAGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00894,Superfamily_domains:SSF103473	.	.	ENSP00000244527	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000244527	Transcript	.	.	ENSG00000124568	10929	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT1_HUMAN	SLC17A1	HGNC	Q96PF5_HUMAN,Q96KL5_HUMAN	.	UPI00000719C0	SNV	SLC17A1,synonymous_variant,p.%3D,ENST00000476801,;SLC17A1,synonymous_variant,p.%3D,ENST00000427328,;SLC17A1,synonymous_variant,p.%3D,ENST00000468082,;SLC17A1,synonymous_variant,p.%3D,ENST00000244527,;SLC17A1,3_prime_UTR_variant,,ENST00000377886,;	1445	56	35	SUCCESS
HIST1H4C	0	.	GRCh37	6	26104441	26104441	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	74	0	ENST00000377803.2:c.266A>G	p.Tyr89Cys	p.Y89C	ENST00000377803	NM_003542.3	89	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4583.1	266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATATGCCC	NONE	.	.	hmmpanther:PTHR10484,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00417,SMART_domains:SM00803,Superfamily_domains:SSF47113,Prints_domain:PR00623,Prints_domain:PR00623	.	.	ENSP00000367034	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377803	Transcript	.	.	ENSG00000197061	4787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	deleterious(0.04)	.	H4_HUMAN	HIST1H4C	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4C,missense_variant,p.Tyr89Cys,ENST00000377803,;HIST1H1T,downstream_gene_variant,,ENST00000338379,;	338	74	76	SUCCESS
BTN2A1	11120	.	GRCh37	6	26468554	26468554	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	121	0	ENST00000312541.5:c.1361T>A	p.Leu454Gln	p.L454Q	ENST00000312541	NM_007049.4	454	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4613.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGGACT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF57,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000312158	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000312541	Transcript	.	.	ENSG00000112763	1136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	BT2A1_HUMAN	BTN2A1	HGNC	C9JNC3_HUMAN	.	UPI00000480E9	SNV	BTN2A1,missense_variant,p.Leu454Gln,ENST00000312541,;BTN2A1,missense_variant,p.Leu393Gln,ENST00000541522,;BTN2A1,3_prime_UTR_variant,,ENST00000429381,;BTN2A1,intron_variant,,ENST00000480218,;BTN2A1,intron_variant,,ENST00000469185,;BTN2A1,3_prime_UTR_variant,,ENST00000377600,;	1609	121	114	SUCCESS
NKAPL	222698	.	GRCh37	6	28227197	28227197	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	17	84	0	ENST00000343684.3:c.48T>C	p.Ser16=	p.S16=	ENST00000343684	NM_001007531.2	16	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS34353.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3	.	.	ENSP00000345716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343684	Transcript	.	.	ENSG00000189134	21584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKAPL_HUMAN	NKAPL	HGNC	.	.	UPI0000072A86	SNV	NKAPL,synonymous_variant,p.%3D,ENST00000343684,;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;	100	84	92	SUCCESS
MSH5	4439	.	GRCh37	6	31726650	31726650	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	120	0	ENST00000375750.3:c.1324C>G	p.Leu442Val	p.L442V	ENST00000375750	NM_172165.3	442	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS34410.1	1324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTCTGGTG	NONE	.	.	Superfamily_domains:SSF48334,SMART_domains:SM00533,Pfam_domain:PF05192,Pfam_domain:PF05190,hmmpanther:PTHR11361:SF20,hmmpanther:PTHR11361	.	.	ENSP00000364855	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000375703	Transcript	.	.	ENSG00000204410	7328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	tolerated(0.1)	.	MSH5_HUMAN	MSH5	HGNC	Q5SSR2_HUMAN	.	UPI0000070722	SNV	MSH5,missense_variant,p.Leu116Val,ENST00000395853,;MSH5,missense_variant,p.Leu459Val,ENST00000375740,;MSH5,missense_variant,p.Leu442Val,ENST00000375755,;MSH5,missense_variant,p.Leu442Val,ENST00000375750,;MSH5,missense_variant,p.Leu459Val,ENST00000534153,;MSH5,missense_variant,p.Leu284Val,ENST00000450148,;MSH5,missense_variant,p.Leu459Val,ENST00000375742,;MSH5,missense_variant,p.Leu442Val,ENST00000375703,;MSH5,missense_variant,p.Leu141Val,ENST00000431848,;SAPCD1,upstream_gene_variant,,ENST00000415669,;SAPCD1,upstream_gene_variant,,ENST00000425424,;MSH5,upstream_gene_variant,,ENST00000429846,;SAPCD1,upstream_gene_variant,,ENST00000433778,;RNU6-850P,upstream_gene_variant,,ENST00000516934,;MSH5,splice_region_variant,,ENST00000468602,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000491552,;MSH5-SAPCD1,missense_variant,p.Leu459Val,ENST00000493662,;MSH5,missense_variant,p.Leu442Val,ENST00000423982,;MSH5,splice_region_variant,,ENST00000467319,;MSH5,splice_region_variant,,ENST00000463144,;MSH5,splice_region_variant,,ENST00000468136,;MSH5,upstream_gene_variant,,ENST00000494646,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000498473,;SAPCD1,upstream_gene_variant,,ENST00000494299,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000476085,;MSH5,upstream_gene_variant,,ENST00000484309,;MSH5,upstream_gene_variant,,ENST00000494458,;MSH5,downstream_gene_variant,,ENST00000497269,;	1379	120	88	SUCCESS
CYP39A1	51302	.	GRCh37	6	46609971	46609971	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs796578990	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	70	0	ENST00000275016.2:c.242G>A	p.Gly81Glu	p.G81E	ENST00000275016	NM_001278739.1	81	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS4916.1	242	MUTECT|MUSE|VARSCANS	.	TAATTCCTTCT	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264	.	.	ENSP00000275016	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000275016	Transcript	.	.	ENSG00000146233	17449	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	CP39A_HUMAN	CYP39A1	HGNC	.	.	UPI000013DA3D	SNV	CYP39A1,missense_variant,p.Gly81Glu,ENST00000275016,;CYP39A1,upstream_gene_variant,,ENST00000480804,;	446	70	43	SUCCESS
RHAG	6005	.	GRCh37	6	49583450	49583450	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	98	0	ENST00000371175.4:c.527C>A	p.Ala176Asp	p.A176D	ENST00000371175	NM_000324.2	176	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4927.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGCATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11883,hmmpanther:PTHR11883:SF27,Pfam_domain:PF00909,Gene3D:1.10.3430.10,Superfamily_domains:0044218,Prints_domain:PR00342	.	.	ENSP00000360217	.	4/10	.	.	.	.	.	.	.	.	COSM1329642	4/10	PASS	ENST00000371175	Transcript	.	.	ENSG00000112077	10006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0)	1	RHAG_HUMAN	RHAG	HGNC	Q9UL98_HUMAN,Q9UK69_HUMAN,Q9UHG8_HUMAN,Q9UBB8_HUMAN	.	UPI000006D18F	SNV	RHAG,missense_variant,p.Ala176Asp,ENST00000229810,;RHAG,missense_variant,p.Ala176Asp,ENST00000371175,;	554	98	100	SUCCESS
EYS	346007	.	GRCh37	6	65622636	65622636	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	47	0	ENST00000370616.2:c.2382A>T		p.X794_splice	ENST00000370616		794	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47445.1	2382	RADIA|MUTECT|MUSE|VARSCANS	.	TCACATCTGAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2gy5A03,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	16/43	.	.	.	.	.	.	.	.	.	16/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,synonymous_variant,p.%3D,ENST00000370616,;EYS,synonymous_variant,p.%3D,ENST00000370621,;EYS,synonymous_variant,p.%3D,ENST00000503581,;	2920	47	46	SUCCESS
MTO1	25821	.	GRCh37	6	74202034	74202034	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	53	0	ENST00000370300.4:c.1790A>G	p.Tyr597Cys	p.Y597C	ENST00000370300	NM_012123.3	597	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS47452.1	1835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTATACTA	NONE	.	.	hmmpanther:PTHR11806,hmmpanther:PTHR11806:SF3	.	.	ENSP00000402038	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000415954	Transcript	.	.	ENSG00000135297	19261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.04)	.	MTO1_HUMAN	MTO1	HGNC	.	.	UPI0001639C21	SNV	MTO1,missense_variant,p.Tyr597Cys,ENST00000370300,;MTO1,missense_variant,p.Tyr127Cys,ENST00000521156,;MTO1,missense_variant,p.Tyr572Cys,ENST00000498286,;MTO1,missense_variant,p.Tyr523Cys,ENST00000370305,;MTO1,missense_variant,p.Tyr612Cys,ENST00000415954,;RP11-505P4.6,non_coding_transcript_exon_variant,,ENST00000423099,;Metazoa_SRP,upstream_gene_variant,,ENST00000607480,;MTO1,3_prime_UTR_variant,,ENST00000523763,;MTO1,3_prime_UTR_variant,,ENST00000524046,;MTO1,3_prime_UTR_variant,,ENST00000415228,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,non_coding_transcript_exon_variant,,ENST00000462039,;	2112	53	64	SUCCESS
FUT9	10690	.	GRCh37	6	96651384	96651384	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	101	0	ENST00000302103.5:c.353C>A	p.Thr118Lys	p.T118K	ENST00000302103	NM_006581.3	118	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS5033.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACAAATT	NONE	.	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.33)	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,missense_variant,p.Thr118Lys,ENST00000302103,;	679	101	92	SUCCESS
MUC17	140453	.	GRCh37	7	100677761	100677761	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	29	187	0	ENST00000306151.4:c.3064T>A	p.Ser1022Thr	p.S1022T	ENST00000306151	NM_001040105.1	1022	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS34711.1	3064	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTCACCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.958)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Ser1022Thr,ENST00000306151,;MUC17,missense_variant,p.Ser1022Thr,ENST00000379439,;	3128	187	184	SUCCESS
LHFPL3	375612	.	GRCh37	7	103969638	103969638	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	45	0	ENST00000424859.1:c.369G>T	p.Val123=	p.V123=	ENST00000424859	NM_199000.2	123	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	.	411	MUTECT|MUSE	.	ACTGTGTACAA	NONE	.	.	Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13	.	.	ENSP00000444350	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000535008	Transcript	.	.	ENSG00000187416	6589	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LHFPL3	HGNC	F5GZM2_HUMAN	.	UPI0002065540	SNV	LHFPL3,synonymous_variant,p.%3D,ENST00000401970,;LHFPL3,synonymous_variant,p.%3D,ENST00000424859,;LHFPL3,synonymous_variant,p.%3D,ENST00000543266,;LHFPL3,synonymous_variant,p.%3D,ENST00000535008,;	535	45	47	SUCCESS
LHFPL3	375612	.	GRCh37	7	104377307	104377307	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	67	0	ENST00000424859.1:c.589G>C	p.Gly197Arg	p.G197R	ENST00000424859	NM_199000.2	197	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	.	631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTGGTAAT	NONE	.	.	Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13	.	.	ENSP00000444350	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000535008	Transcript	.	.	ENSG00000187416	6589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	LHFPL3	HGNC	F5GZM2_HUMAN	.	UPI0002065540	SNV	LHFPL3,missense_variant,p.Gly197Arg,ENST00000401970,;LHFPL3,missense_variant,p.Gly197Arg,ENST00000424859,;LHFPL3,missense_variant,p.Gly211Arg,ENST00000543266,;LHFPL3,missense_variant,p.Gly211Arg,ENST00000535008,;LHFPL3-AS1,downstream_gene_variant,,ENST00000449764,;LHFPL3-AS1,downstream_gene_variant,,ENST00000433514,;	755	67	60	SUCCESS
PNPLA8	50640	.	GRCh37	7	108113028	108113028	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	14	81	0	ENST00000257694.8:c.2166T>C	p.Ser722=	p.S722=	ENST00000257694	NM_001256007.1	722	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS34733.1	2166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCGACTTTC	NONE	.	.	hmmpanther:PTHR24185,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151	.	.	ENSP00000410804	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000422087	Transcript	.	.	ENSG00000135241	28900	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL8_HUMAN	PNPLA8	HGNC	C9JAX4_HUMAN,C9J9W9_HUMAN	.	UPI0000073D34	SNV	PNPLA8,synonymous_variant,p.%3D,ENST00000453144,;PNPLA8,synonymous_variant,p.%3D,ENST00000257694,;PNPLA8,synonymous_variant,p.%3D,ENST00000388728,;PNPLA8,synonymous_variant,p.%3D,ENST00000426128,;PNPLA8,synonymous_variant,p.%3D,ENST00000453085,;PNPLA8,synonymous_variant,p.%3D,ENST00000422087,;PNPLA8,synonymous_variant,p.%3D,ENST00000436062,;	2573	81	93	SUCCESS
SCIN	85477	.	GRCh37	7	12666242	12666242	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	47	75	0	ENST00000297029.5:c.1015A>C	p.Ile339Leu	p.I339L	ENST00000297029	NM_001112706.2	339	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS47545.1	1015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAATCTTC	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,Pfam_domain:PF00626,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF82754,Prints_domain:PR00597	.	.	ENSP00000297029	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000297029	Transcript	.	.	ENSG00000006747	21695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(1)	.	ADSV_HUMAN	SCIN	HGNC	Q8NBV9_HUMAN,Q75MG0_HUMAN	.	UPI000013C4DF	SNV	SCIN,missense_variant,p.Ile92Leu,ENST00000445618,;SCIN,missense_variant,p.Ile92Leu,ENST00000519209,;SCIN,missense_variant,p.Ile339Leu,ENST00000297029,;SCIN,downstream_gene_variant,,ENST00000518849,;SCIN,downstream_gene_variant,,ENST00000523729,;SCIN,non_coding_transcript_exon_variant,,ENST00000473722,;SCIN,downstream_gene_variant,,ENST00000486980,;SCIN,missense_variant,p.Ile339Leu,ENST00000341757,;SCIN,downstream_gene_variant,,ENST00000476649,;	1116	75	71	SUCCESS
FLNC	2318	.	GRCh37	7	128485033	128485033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	21	78	0	ENST00000325888.8:c.3514G>A	p.Glu1172Lys	p.E1172K	ENST00000325888	NM_001458.4	1172	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43644.1	3514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTGAGGCA	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	21/48	.	.	.	.	.	.	.	.	.	21/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,missense_variant,p.Glu1172Lys,ENST00000325888,;FLNC,missense_variant,p.Glu1172Lys,ENST00000346177,;FLNC,downstream_gene_variant,,ENST00000388853,;	3775	78	89	SUCCESS
AOC1	26	.	GRCh37	7	150554178	150554178	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	33	0	ENST00000360937.4:c.620T>C	p.Val207Ala	p.V207A	ENST00000360937	NM_001091.3	207	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS43679.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGTAGAAG	NONE	.	.	hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Pfam_domain:PF02728,Superfamily_domains:SSF54416,Prints_domain:PR00766	.	.	ENSP00000418614	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000493429	Transcript	.	.	ENSG00000002726	80	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	AOC1_HUMAN	AOC1	HGNC	C9J2J4_HUMAN,C9J0G8_HUMAN	.	UPI00001AF136	SNV	AOC1,missense_variant,p.Val207Ala,ENST00000467291,;AOC1,missense_variant,p.Val207Ala,ENST00000483043,;AOC1,missense_variant,p.Val207Ala,ENST00000416793,;AOC1,missense_variant,p.Val207Ala,ENST00000493429,;AOC1,missense_variant,p.Val207Ala,ENST00000460213,;AOC1,missense_variant,p.Val207Ala,ENST00000360937,;AOC1,upstream_gene_variant,,ENST00000480582,;	1204	33	30	SUCCESS
NOS3	4846	.	GRCh37	7	150695448	150695448	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	54	1	ENST00000297494.3:c.586T>G	p.Phe196Val	p.F196V	ENST00000297494	NM_000603.4	196	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS5912.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGTTCGAT	NONE	.	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.340.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	.	.	ENSP00000297494	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,missense_variant,p.Phe196Val,ENST00000467517,;NOS3,missense_variant,p.Phe196Val,ENST00000484524,;NOS3,missense_variant,p.Phe196Val,ENST00000297494,;NOS3,5_prime_UTR_variant,,ENST00000461406,;NOS3,upstream_gene_variant,,ENST00000460603,;	943	55	31	SUCCESS
DNAJB6	10049	.	GRCh37	7	157155965	157155965	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	73	0	ENST00000262177.4:c.175+1G>T		p.X59_splice	ENST00000262177	NM_058246.3	59		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5946.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGTGAGT	NONE	.	.	.	.	.	ENSP00000262177	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262177	Transcript	.	.	ENSG00000105993	14888	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,splice_donor_variant,,ENST00000417758,;DNAJB6,splice_donor_variant,,ENST00000429029,;DNAJB6,splice_donor_variant,,ENST00000453383,;DNAJB6,splice_donor_variant,,ENST00000437030,;DNAJB6,splice_donor_variant,,ENST00000441561,;DNAJB6,splice_donor_variant,,ENST00000412557,;DNAJB6,splice_donor_variant,,ENST00000262177,;DNAJB6,splice_donor_variant,,ENST00000443280,;DNAJB6,intron_variant,,ENST00000452797,;DNAJB6,downstream_gene_variant,,ENST00000439402,;DNAJB6,splice_donor_variant,,ENST00000486083,;DNAJB6,splice_donor_variant,,ENST00000488001,;DNAJB6,splice_donor_variant,,ENST00000459889,;DNAJB6,splice_donor_variant,,ENST00000441291,;	.	73	56	SUCCESS
WDR60	0	.	GRCh37	7	158734669	158734669	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	32	0	ENST00000407559.3:c.2832G>C	p.Pro944=	p.P944=	ENST00000407559	NM_018051.4	944	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47757.1	2832	MUTECT|MUSE	.	TTTCCGCTCCT	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000384290	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,synonymous_variant,p.%3D,ENST00000407559,;WDR60,synonymous_variant,p.%3D,ENST00000454771,;WDR60,3_prime_UTR_variant,,ENST00000444851,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;	2990	32	27	SUCCESS
PDE1C	5137	.	GRCh37	7	31864548	31864548	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374973459	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	4	143	0	ENST00000321453.7:c.1339G>A	p.Glu447Lys	p.E447K	ENST00000321453	NM_001191059.1	447	Gag/Aag	0	T:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS55100.1	1519	MUTECT|MUSE	.	CTTCTCGGTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11347:SF32,hmmpanther:PTHR11347,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	T:0.0003	ENSP00000379496	.	14/19	.	.	.	.	.	.	.	.	rs374973459	14/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Glu447Lys,ENST00000396184,;PDE1C,missense_variant,p.Glu447Lys,ENST00000396191,;PDE1C,missense_variant,p.Glu507Lys,ENST00000396193,;PDE1C,missense_variant,p.Glu447Lys,ENST00000321453,;PDE1C,missense_variant,p.Glu447Lys,ENST00000396182,;PDE1C,upstream_gene_variant,,ENST00000479980,;	2113	143	95	SUCCESS
ANLN	54443	.	GRCh37	7	36435972	36435972	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs555242135	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	29	147	0	ENST00000265748.2:c.116G>T	p.Arg39Leu	p.R39L	ENST00000265748	NM_018685.2	39	cGa/cTa	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS5447.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGCGAGCTA	NONE	by1000G	.	hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20	A:0	.	ENSP00000265748	A:0	2/24	.	.	.	.	.	.	.	.	rs555242135	2/24	PASS	ENST00000265748	Transcript	.	A:0.0002	ENSG00000011426	14082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	A:0.001	deleterious(0)	.	ANLN_HUMAN	ANLN	HGNC	C9JJT6_HUMAN	.	UPI00001A95DE	SNV	ANLN,missense_variant,p.Arg39Leu,ENST00000396068,;ANLN,missense_variant,p.Arg17Leu,ENST00000424865,;ANLN,missense_variant,p.Arg17Leu,ENST00000418118,;ANLN,missense_variant,p.Arg39Leu,ENST00000265748,;	337	147	150	SUCCESS
ZNF716	441234	.	GRCh37	7	57529255	57529255	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	105	1	ENST00000420713.1:c.1088T>A	p.Phe363Tyr	p.F363Y	ENST00000420713	NM_001159279.1	363	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS55112.1	1088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTTCTCCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000394248	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(1)	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Phe363Tyr,ENST00000420713,;	1200	106	96	SUCCESS
CD36	948	.	GRCh37	7	80295781	80295781	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	35	0	ENST00000309881.7:c.724C>G	p.His242Asp	p.H242D	ENST00000309881	NM_001001547.2	242	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS34673.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCACTGC	NONE	.	.	Prints_domain:PR01610,Pfam_domain:PF01130,hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF12	.	.	ENSP00000399421	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000435819	Transcript	.	.	ENSG00000135218	1663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0.01)	.	CD36_HUMAN	CD36	HGNC	Q9BZN6_HUMAN,Q9BZN2_HUMAN,Q9BZM9_HUMAN,Q9BQA7_HUMAN,E9PLT1_HUMAN,E9PJX8_HUMAN,E9PC45_HUMAN,E7EX47_HUMAN,E7EWI4_HUMAN,E7EU05_HUMAN,E7ERZ9_HUMAN,A4D1B1_HUMAN	.	UPI0000000C91	SNV	CD36,missense_variant,p.His242Asp,ENST00000447544,;CD36,missense_variant,p.His166Asp,ENST00000534394,;CD36,missense_variant,p.His182Asp,ENST00000538969,;CD36,missense_variant,p.His242Asp,ENST00000309881,;CD36,missense_variant,p.His242Asp,ENST00000544133,;CD36,missense_variant,p.His242Asp,ENST00000435819,;CD36,missense_variant,p.His242Asp,ENST00000419819,;CD36,missense_variant,p.His242Asp,ENST00000432207,;CD36,missense_variant,p.His242Asp,ENST00000394788,;CD36,intron_variant,,ENST00000433696,;CD36,downstream_gene_variant,,ENST00000413265,;CD36,downstream_gene_variant,,ENST00000426978,;CD36,non_coding_transcript_exon_variant,,ENST00000464213,;CD36,downstream_gene_variant,,ENST00000441034,;AC073850.6,upstream_gene_variant,,ENST00000449243,;	1408	35	32	SUCCESS
SMURF1	57154	.	GRCh37	7	98645348	98645348	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	65	0	ENST00000361125.1:c.1189G>T	p.Gly397Cys	p.G397C	ENST00000361125	NM_020429.2	397	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS34690.1	1189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACCAGCTT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF293,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000354621	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000361125	Transcript	.	.	ENSG00000198742	16807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SMUF1_HUMAN	SMURF1	HGNC	D6W5S0_HUMAN	.	UPI00000015C4	SNV	SMURF1,missense_variant,p.Gly397Cys,ENST00000361125,;SMURF1,missense_variant,p.Gly371Cys,ENST00000361368,;AC004893.11,non_coding_transcript_exon_variant,,ENST00000482799,;AC004893.11,non_coding_transcript_exon_variant,,ENST00000468960,;SMURF1,downstream_gene_variant,,ENST00000480055,;	1509	65	71	SUCCESS
FBXO43	286151	.	GRCh37	8	101153047	101153047	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	118	0	ENST00000428847.2:c.1435C>T	p.Gln479Ter	p.Q479*	ENST00000428847	NM_001029860.3	479	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS47904.1	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTGCAGTA	NONE	.	.	hmmpanther:PTHR15493:SF1,hmmpanther:PTHR15493	.	.	ENSP00000403293	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000428847	Transcript	.	.	ENSG00000156509	28521	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX43_HUMAN	FBXO43	HGNC	.	.	UPI000013DE8F	SNV	FBXO43,stop_gained,p.Gln479Ter,ENST00000428847,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,non_coding_transcript_exon_variant,,ENST00000520987,;	1752	118	101	SUCCESS
CSMD3	114788	.	GRCh37	8	113326812	113326812	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	104	0	ENST00000297405.5:c.7395T>C	p.Ser2465=	p.S2465=	ENST00000297405	NM_198123.1	2465	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6315.1	7395	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTAGAATC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	48/71	.	.	.	.	.	.	.	.	.	48/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7640	104	93	SUCCESS
SNTB1	6641	.	GRCh37	8	121706115	121706115	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	80	0	ENST00000395601.3:c.605A>G	p.Lys202Arg	p.K202R	ENST00000395601	NM_021021.3	202	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6334.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTTCACA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000378965	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000395601	Transcript	.	.	ENSG00000172164	11168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.22)	.	SNTB1_HUMAN	SNTB1	HGNC	E5RIX7_HUMAN	.	UPI0000135B20	SNV	SNTB1,missense_variant,p.Lys202Arg,ENST00000395601,;SNTB1,missense_variant,p.Lys202Arg,ENST00000517992,;SNTB1,non_coding_transcript_exon_variant,,ENST00000519298,;SNTB1,non_coding_transcript_exon_variant,,ENST00000519177,;	1020	80	63	SUCCESS
FBXO32	114907	.	GRCh37	8	124553194	124553194	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	69	0	ENST00000517956.1:c.61G>A	p.Gly21Ser	p.G21S	ENST00000517956	NM_058229.3	21	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS6345.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGTCGG	NONE	.	.	hmmpanther:PTHR13123:SF6,hmmpanther:PTHR13123	.	.	ENSP00000428205	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000517956	Transcript	.	.	ENSG00000156804	16731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	FBX32_HUMAN	FBXO32	HGNC	Q498Y9_HUMAN,Q0VAQ6_HUMAN	.	UPI0000034E28	SNV	FBXO32,missense_variant,p.Gly21Ser,ENST00000443022,;FBXO32,missense_variant,p.Gly21Ser,ENST00000517956,;FBXO32,non_coding_transcript_exon_variant,,ENST00000521719,;FBXO32,non_coding_transcript_exon_variant,,ENST00000520511,;	253	69	86	SUCCESS
ZNF707	286075	.	GRCh37	8	144776267	144776267	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368360386	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	35	0	ENST00000358656.4:c.683G>A	p.Arg228His	p.R228H	ENST00000358656	NM_001100598.1	228	cGc/cAc	0	A:0.0007	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS47932.1	683	MUTECT|MUSE	.	CACGCGCGAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24402:SF169,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	A:0	A:0	ENSP00000436212	A:0	8/8	.	.	.	.	.	.	.	.	rs368360386,COSM2868550	8/8	PASS	ENST00000532205	Transcript	.	A:0.0002	ENSG00000181135	27815	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.397)	A:0	tolerated(0.09)	0,1	ZN707_HUMAN	ZNF707	HGNC	E9PS67_HUMAN,E9PQ20_HUMAN,E9PNV7_HUMAN,E9PHZ0_HUMAN	.	UPI0000160D8F	SNV	ZNF707,missense_variant,p.Arg228His,ENST00000358656,;ZNF707,missense_variant,p.Arg228His,ENST00000532205,;ZNF707,missense_variant,p.Arg228His,ENST00000532158,;ZNF707,missense_variant,p.Arg228His,ENST00000418203,;ZNF707,missense_variant,p.Arg228His,ENST00000454097,;ZNF707,downstream_gene_variant,,ENST00000534303,;ZNF707,downstream_gene_variant,,ENST00000442058,;ZNF707,downstream_gene_variant,,ENST00000530574,;ZNF707,downstream_gene_variant,,ENST00000526315,;ZNF707,downstream_gene_variant,,ENST00000529833,;ZNF707,downstream_gene_variant,,ENST00000526970,;RP11-429J17.2,upstream_gene_variant,,ENST00000531565,;ZNF707,non_coding_transcript_exon_variant,,ENST00000527561,;ZNF707,downstream_gene_variant,,ENST00000532571,;ZNF707,downstream_gene_variant,,ENST00000530341,;ZNF707,downstream_gene_variant,,ENST00000531811,;ZNF707,3_prime_UTR_variant,,ENST00000533031,;ZNF707,non_coding_transcript_exon_variant,,ENST00000532486,;ZNF707,downstream_gene_variant,,ENST00000525862,;ZNF707,downstream_gene_variant,,ENST00000532003,;ZNF707,downstream_gene_variant,,ENST00000527293,;ZNF707,downstream_gene_variant,,ENST00000533254,;ZNF707,downstream_gene_variant,,ENST00000534589,;ZNF707,downstream_gene_variant,,ENST00000528134,;ZNF707,downstream_gene_variant,,ENST00000528456,;ZNF707,downstream_gene_variant,,ENST00000525538,;ZNF707,downstream_gene_variant,,ENST00000531254,;ZNF707,downstream_gene_variant,,ENST00000525619,;ZNF707,downstream_gene_variant,,ENST00000531985,;ZNF707,downstream_gene_variant,,ENST00000525185,;	1582	35	29	SUCCESS
RECQL4	9401	.	GRCh37	8	145739484	145739484	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761794554	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	60	0	ENST00000428558.2:c.1886G>A	p.Arg629Gln	p.R629Q	ENST00000428558	NM_004260.3	629	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	.	1886	MUTECT|MUSE|VARSCANS	.	GCTCCCGAAGC	NONE	byFrequency	.	PROSITE_profiles:PS51192,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1,TIGRFAM_domain:TIGR00614,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000475456	.	12/22	.	.	.	.	.	.	.	.	rs761794554	12/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.892)	.	deleterious(0.03)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Arg86Gln,ENST00000534626,;RECQL4,missense_variant,p.Arg629Gln,ENST00000428558,;RECQL4,missense_variant,p.Arg248Gln,ENST00000532846,;MFSD3,downstream_gene_variant,,ENST00000301327,;LRRC14,upstream_gene_variant,,ENST00000525766,;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;CTD-2517M22.17,downstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;	1928	60	51	SUCCESS
ZDHHC2	51201	.	GRCh37	8	17072756	17072756	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749210254	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	82	0	ENST00000262096.8:c.961C>T	p.His321Tyr	p.H321Y	ENST00000262096	NM_016353.4	321	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS47810.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACCATCAG	NONE	.	.	hmmpanther:PTHR22883:SF14,hmmpanther:PTHR22883	.	.	ENSP00000262096	.	11/13	.	.	.	.	.	.	.	.	rs749210254	11/13	PASS	ENST00000262096	Transcript	.	.	ENSG00000104219	18469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	tolerated(0.38)	.	ZDHC2_HUMAN	ZDHHC2	HGNC	E5RFZ7_HUMAN,B3KMD6_HUMAN	.	UPI000004A02F	SNV	ZDHHC2,missense_variant,p.His321Tyr,ENST00000262096,;	1656	82	56	SUCCESS
CHMP4C	92421	.	GRCh37	8	82670408	82670408	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	66	0	ENST00000297265.4:c.515A>T	p.Glu172Val	p.E172V	ENST00000297265	NM_152284.3	172	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6233.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGAACAGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF13,Pfam_domain:PF03357	.	.	ENSP00000297265	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000297265	Transcript	.	.	ENSG00000164695	30599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious(0.02)	.	CHM4C_HUMAN	CHMP4C	HGNC	.	.	UPI000005032A	SNV	CHMP4C,missense_variant,p.Glu172Val,ENST00000297265,;	708	66	86	SUCCESS
LRRCC1	85444	.	GRCh37	8	86041583	86041583	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	98	279	0	ENST00000360375.3:c.1595A>G	p.Glu532Gly	p.E532G	ENST00000360375	NM_033402.4	532	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS43750.1	1595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGAGAGAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10588:SF31,hmmpanther:PTHR10588	.	.	ENSP00000353538	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000360375	Transcript	.	.	ENSG00000133739	29373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	LRCC1_HUMAN	LRRCC1	HGNC	.	.	UPI000021002F	SNV	LRRCC1,missense_variant,p.Glu532Gly,ENST00000360375,;LRRCC1,missense_variant,p.Glu512Gly,ENST00000414626,;LRRCC1,3_prime_UTR_variant,,ENST00000522770,;LRRCC1,3_prime_UTR_variant,,ENST00000517875,;LRRCC1,3_prime_UTR_variant,,ENST00000522567,;LRRCC1,intron_variant,,ENST00000523669,;	1744	279	269	SUCCESS
LRRC69	100130742	.	GRCh37	8	92213018	92213018	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	120	0	ENST00000448384.2:c.931A>T	p.Lys311Ter	p.K311*	ENST00000448384	NM_001129890.1	311	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	.	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAAGGTA	NONE	.	.	.	.	.	ENSP00000400803	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000448384	Transcript	.	.	ENSG00000214954	34303	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC69_HUMAN	LRRC69	HGNC	E5RJ66_HUMAN	.	UPI00006C0DD3	SNV	LRRC69,stop_gained,p.Lys155Ter,ENST00000343709,;LRRC69,stop_gained,p.Lys311Ter,ENST00000448384,;MIR4661,upstream_gene_variant,,ENST00000582720,;LRRC69,splice_region_variant,,ENST00000520099,;	931	120	110	SUCCESS
ABCA1	19	.	GRCh37	9	107595004	107595004	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	146	0	ENST00000374736.3:c.1360G>A	p.Asp454Asn	p.D454N	ENST00000374736	NM_005502.3	454	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6762.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCCAACT	NONE	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229	.	.	ENSP00000363868	.	12/50	.	.	.	.	.	.	.	.	.	12/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.64)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Asp454Asn,ENST00000374736,;ABCA1,upstream_gene_variant,,ENST00000494467,;	1755	146	97	SUCCESS
BRINP1	1620	.	GRCh37	9	121930349	121930349	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	42	0	ENST00000265922.3:c.1299C>G	p.Asn433Lys	p.N433K	ENST00000265922	NM_014618.2	433	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS6822.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGTTCCC	BUFFER|p.A437T|c.1309G>A|3	.	.	hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,missense_variant,p.Asn433Lys,ENST00000265922,;BRINP1,intron_variant,,ENST00000482797,;	1761	42	32	SUCCESS
BRINP1	1620	.	GRCh37	9	121976358	121976358	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	38	102	0	ENST00000265922.3:c.761G>A	p.Gly254Glu	p.G254E	ENST00000265922	NM_014618.2	254	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS6822.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCATTG	NONE	.	.	hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	6/8	.	.	.	.	.	.	.	.	COSM383601	6/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.366)	.	tolerated(0.22)	1	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,missense_variant,p.Gly254Glu,ENST00000265922,;BRINP1,missense_variant,p.Gly254Glu,ENST00000373964,;	1223	102	66	SUCCESS
PPP2R4	0	.	GRCh37	9	131873871	131873871	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	28	0	ENST00000337738.1:c.-9C>A		p.*3*	ENST00000337738	NM_178001.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6920.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCGGAGC	NONE	.	.	.	.	.	ENSP00000377036	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,5_prime_UTR_variant,,ENST00000414331,;PPP2R4,5_prime_UTR_variant,,ENST00000357197,;PPP2R4,5_prime_UTR_variant,,ENST00000393370,;PPP2R4,5_prime_UTR_variant,,ENST00000337738,;PPP2R4,5_prime_UTR_variant,,ENST00000445241,;PPP2R4,5_prime_UTR_variant,,ENST00000358994,;PPP2R4,5_prime_UTR_variant,,ENST00000355007,;PPP2R4,5_prime_UTR_variant,,ENST00000452489,;PPP2R4,5_prime_UTR_variant,,ENST00000455292,;PPP2R4,5_prime_UTR_variant,,ENST00000348141,;PPP2R4,5_prime_UTR_variant,,ENST00000347048,;CRAT,upstream_gene_variant,,ENST00000318080,;PPP2R4,upstream_gene_variant,,ENST00000453358,;CRAT,upstream_gene_variant,,ENST00000455830,;CRAT,upstream_gene_variant,,ENST00000393384,;PPP2R4,upstream_gene_variant,,ENST00000417728,;AL158151.2,upstream_gene_variant,,ENST00000408594,;CRAT,upstream_gene_variant,,ENST00000464290,;CRAT,upstream_gene_variant,,ENST00000441796,;CRAT,upstream_gene_variant,,ENST00000415948,;CRAT,upstream_gene_variant,,ENST00000458362,;	275	28	19	SUCCESS
TTF1	7270	.	GRCh37	9	135276847	135276847	+	synonymous_variant	Silent	SNP	C	C	T	rs61741946	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	46	104	0	ENST00000334270.2:c.1362G>A	p.Ala454=	p.A454=	ENST00000334270	NM_001205296.1	454	gcG/gcA	0	.	T:0.0015	.	T:0	.	T	A	protein_coding	YES	CCDS6948.1	1362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCGCCTC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10641:SF470,hmmpanther:PTHR10641	T:0	.	ENSP00000333920	T:0	2/11	.	.	.	.	.	.	.	.	rs61741946	2/11	PASS	ENST00000334270	Transcript	.	T:0.0004	ENSG00000125482	12397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TTF1_HUMAN	TTF1	HGNC	.	.	UPI00001B55A7	SNV	TTF1,synonymous_variant,p.%3D,ENST00000334270,;	1402	104	80	SUCCESS
FOCAD	54914	.	GRCh37	9	20944661	20944661	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	68	0	ENST00000338382.6:c.3443C>T	p.Ser1148Phe	p.S1148F	ENST00000338382		1148	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS34993.1	3443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCCCTCA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000369599	.	31/46	.	.	.	.	.	.	.	.	.	31/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,missense_variant,p.Ser1148Phe,ENST00000380249,;FOCAD,missense_variant,p.Ser584Phe,ENST00000605086,;FOCAD,missense_variant,p.Ser1148Phe,ENST00000338382,;FOCAD,missense_variant,p.Ser81Phe,ENST00000603695,;FOCAD,missense_variant,p.Ser62Phe,ENST00000604254,;FOCAD,missense_variant,p.Ser81Phe,ENST00000603044,;	3807	68	51	SUCCESS
GNE	10020	.	GRCh37	9	36223377	36223377	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	69	0	ENST00000377902.5:c.1404G>A	p.Leu468=	p.L468=	ENST00000377902	NM_001190383.1	468	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47965.1	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCAAAAT	NONE	.	.	hmmpanther:PTHR18964:SF109,hmmpanther:PTHR18964,Gene3D:3.30.420.40,Pfam_domain:PF00480,Superfamily_domains:SSF53067	.	.	ENSP00000379839	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000396594	Transcript	.	.	ENSG00000159921	23657	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLCNE_HUMAN	GNE	HGNC	.	.	UPI00002113D6	SNV	GNE,synonymous_variant,p.%3D,ENST00000539815,;GNE,synonymous_variant,p.%3D,ENST00000377902,;GNE,synonymous_variant,p.%3D,ENST00000543356,;GNE,synonymous_variant,p.%3D,ENST00000539208,;GNE,synonymous_variant,p.%3D,ENST00000396594,;GNE,synonymous_variant,p.%3D,ENST00000447283,;CLTA,intron_variant,,ENST00000464497,;	1609	69	61	SUCCESS
GLIS3	169792	.	GRCh37	9	4117860	4117860	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759183029	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	220	66	0	ENST00000324333.10:c.1153G>C	p.Gly385Arg	p.G385R	ENST00000324333	NM_152629.3	385	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS43784.1	1618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCGGCCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF71,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000371398	.	4/11	.	.	.	.	.	.	.	.	rs759183029	4/11	PASS	ENST00000381971	Transcript	.	.	ENSG00000107249	28510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLIS3_HUMAN	GLIS3	HGNC	Q1PHK4_HUMAN,Q1PHJ8_HUMAN,Q1PHJ7_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN	.	UPI0000DA4C5E	SNV	GLIS3,missense_variant,p.Gly385Arg,ENST00000324333,;GLIS3,missense_variant,p.Gly540Arg,ENST00000381971,;GLIS3,downstream_gene_variant,,ENST00000478315,;GLIS3,downstream_gene_variant,,ENST00000478844,;GLIS3,downstream_gene_variant,,ENST00000477901,;GLIS3,downstream_gene_variant,,ENST00000481827,;GLIS3,downstream_gene_variant,,ENST00000462164,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,downstream_gene_variant,,ENST00000490709,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;GLIS3,downstream_gene_variant,,ENST00000491889,;	2212	66	246	SUCCESS
RANBP6	26953	.	GRCh37	9	6015579	6015579	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769632096	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	53	13	0	ENST00000259569.5:c.29C>T	p.Pro10Leu	p.P10L	ENST00000259569	NM_012416.3	10	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6467.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCGGCACC	NONE	byFrequency	.	.	.	.	ENSP00000259569	.	1/1	.	.	.	.	.	.	.	.	rs769632096,COSM1109514	1/1	PASS	ENST00000259569	Transcript	.	.	ENSG00000137040	9851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	tolerated_low_confidence(0.05)	0,1	RNBP6_HUMAN	RANBP6	HGNC	B4E340_HUMAN	.	UPI000013D061	SNV	RANBP6,missense_variant,p.Pro10Leu,ENST00000259569,;RANBP6,non_coding_transcript_exon_variant,,ENST00000485372,;	40	13	58	SUCCESS
ZNF510	22869	.	GRCh37	9	99525914	99525914	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs772165100	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	62	0	ENST00000223428.4:c.130G>A	p.Ala44Thr	p.A44T	ENST00000223428	NM_014930.1	44	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS35074.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCCTGTA	NONE	.	.	Superfamily_domains:0044637,hmmpanther:PTHR24392:SF21,hmmpanther:PTHR24392	.	.	ENSP00000364379	.	4/6	.	.	.	.	.	.	.	.	rs772165100	4/6	PASS	ENST00000375231	Transcript	.	.	ENSG00000081386	29161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.05)	.	ZN510_HUMAN	ZNF510	HGNC	Q6NUI8_HUMAN	.	UPI0000139E9E	SNV	ZNF510,missense_variant,p.Ala44Thr,ENST00000375231,;ZNF510,missense_variant,p.Ala44Thr,ENST00000223428,;ZNF510,missense_variant,p.Ala44Thr,ENST00000374641,;ZNF510,non_coding_transcript_exon_variant,,ENST00000472201,;	781	62	51	SUCCESS
UPRT	139596	.	GRCh37	X	74494412	74494412	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	80	91	0	ENST00000373383.4:c.323C>T	p.Ala108Val	p.A108V	ENST00000373383	NM_145052.3	108	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14429.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCGCAGC	NONE	.	.	Superfamily_domains:SSF53271,Gene3D:3.40.50.2020,hmmpanther:PTHR10285	.	.	ENSP00000362481	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000373383	Transcript	.	.	ENSG00000094841	28334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious(0.02)	.	UPP_HUMAN	UPRT	HGNC	E9PSD7_HUMAN,A8KAF9_HUMAN	.	UPI000004B62E	SNV	UPRT,missense_variant,p.Ala108Val,ENST00000373379,;UPRT,missense_variant,p.Ala108Val,ENST00000373383,;UPRT,upstream_gene_variant,,ENST00000530743,;UPRT,non_coding_transcript_exon_variant,,ENST00000531704,;UPRT,missense_variant,p.Ala108Val,ENST00000373373,;UPRT,missense_variant,p.Ala108Val,ENST00000462237,;	490	91	118	SUCCESS
ABCC2	1244	.	GRCh37	10	101556936	101556936	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1210667442	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	77	0	ENST00000370449.4:c.715G>T	p.Val239Leu	p.V239L	ENST00000370449	NM_000392.3	239	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS7484.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTAGTGAGC	NONE	.	.	hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957	.	.	ENSP00000359478	.	7/32	.	.	.	.	.	.	.	.	.	7/32	PASS	ENST00000370449	Transcript	1	.	ENSG00000023839	53	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	MRP2_HUMAN	ABCC2	HGNC	.	.	UPI000013D6CA	SNV	ABCC2,missense_variant,p.Val239Leu,ENST00000370449,;ABCC2,missense_variant,p.Val239Leu,ENST00000370434,;ABCC2,downstream_gene_variant,,ENST00000496621,;	828	77	60	SUCCESS
SUFU	51684	.	GRCh37	10	104389884	104389884	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	71	0	ENST00000369902.3:c.1427A>T	p.Asp476Val	p.D476V	ENST00000369902	NM_016169.3	476	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS7537.1	1427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGACGTGG	NONE	.	.	hmmpanther:PTHR10928:SF2,hmmpanther:PTHR10928,PIRSF_domain:PIRSF011844	.	.	ENSP00000358918	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369902	Transcript	1	.	ENSG00000107882	16466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	SUFU_HUMAN	SUFU	HGNC	.	.	UPI0000073C79	SNV	SUFU,missense_variant,p.Asp476Val,ENST00000369902,;	1593	71	46	SUCCESS
WDR96	0	.	GRCh37	10	105900629	105900629	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs750109033	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	75	0	ENST00000357060.3:c.4402A>T	p.Ile1468Leu	p.I1468L	ENST00000357060	NM_025145.5	1468	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS31281.1	4402	RADIA|MUTECT|MUSE|VARSCANS	.	AATTATGTTCT	NONE	.	.	hmmpanther:PTHR14885	.	.	ENSP00000349568	.	34/38	.	.	.	.	.	.	.	.	rs750109033	34/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.15)	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,missense_variant,p.Ile317Leu,ENST00000457071,;WDR96,missense_variant,p.Ile1440Leu,ENST00000428666,;WDR96,missense_variant,p.Ile1468Leu,ENST00000357060,;WDR96,missense_variant,p.Ile800Leu,ENST00000434629,;WDR96,non_coding_transcript_exon_variant,,ENST00000479392,;	4518	75	63	SUCCESS
SORCS3	22986	.	GRCh37	10	106924072	106924072	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	39	0	ENST00000369701.3:c.1744C>G	p.Pro582Ala	p.P582A	ENST00000369701	NM_014978.1	582	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS7558.1	1744	RADIA|MUTECT|VARSCANS	.	TTGGCCCGGAG	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000358715	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.33)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Pro27Ala,ENST00000393176,;SORCS3,missense_variant,p.Pro582Ala,ENST00000369701,;	1971	39	39	SUCCESS
EIF3A	8661	.	GRCh37	10	120819149	120819149	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	54	263	0	ENST00000369144.3:c.1408G>A	p.Ala470Thr	p.A470T	ENST00000369144	NM_003750.2	470	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7608.1	1408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCCCGTT	NONE	.	.	HAMAP:MF_03000,hmmpanther:PTHR14005:SF0,hmmpanther:PTHR14005,Gene3D:1.10.10.10,Pfam_domain:PF01399,SMART_domains:SM00088	.	.	ENSP00000358140	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000369144	Transcript	.	.	ENSG00000107581	3271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.41)	.	EIF3A_HUMAN	EIF3A	HGNC	F5H335_HUMAN	.	UPI000012D311	SNV	EIF3A,missense_variant,p.Ala436Thr,ENST00000541549,;EIF3A,missense_variant,p.Ala470Thr,ENST00000369144,;SNORA19,downstream_gene_variant,,ENST00000384737,;SNORA19,downstream_gene_variant,,ENST00000410656,;EIF3A,non_coding_transcript_exon_variant,,ENST00000462527,;	1536	263	229	SUCCESS
FGFR2	2263	.	GRCh37	10	123276887	123276887	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	94	0	ENST00000358487.5:c.1030G>T	p.Ala344Ser	p.A344S	ENST00000358487	NM_000141.4	344	Gcg/Tcg	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7620.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGCCAAGC	NONE	.	.	.	.	.	ENSP00000410294	.	.	.	.	.	.	.	.	.	.	CM960649	.	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODIFIER	8/17	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	SNV	FGFR2,missense_variant,p.Ala255Ser,ENST00000336553,;FGFR2,missense_variant,p.Ala344Ser,ENST00000351936,;FGFR2,missense_variant,p.Ala344Ser,ENST00000346997,;FGFR2,missense_variant,p.Ala344Ser,ENST00000358487,;FGFR2,missense_variant,p.Ala229Ser,ENST00000356226,;FGFR2,missense_variant,p.Ala116Ser,ENST00000478859,;FGFR2,missense_variant,p.Ala255Ser,ENST00000357555,;FGFR2,intron_variant,,ENST00000369061,;FGFR2,intron_variant,,ENST00000360144,;FGFR2,intron_variant,,ENST00000369059,;FGFR2,intron_variant,,ENST00000369058,;FGFR2,intron_variant,,ENST00000369060,;FGFR2,intron_variant,,ENST00000369056,;FGFR2,intron_variant,,ENST00000457416,;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,non_coding_transcript_exon_variant,,ENST00000463870,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,3_prime_UTR_variant,,ENST00000604236,;	.	94	79	SUCCESS
FAM196A	0	.	GRCh37	10	128973670	128973670	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	29	0	ENST00000522781.1:c.990G>C	p.Gly330=	p.G330=	ENST00000522781	NM_001039762.2	330	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS31312.1	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCCCGG	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000429763	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000522781	Transcript	.	.	ENSG00000188916	33859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F196A_HUMAN	FAM196A	HGNC	.	.	UPI00001C0E37	SNV	FAM196A,synonymous_variant,p.%3D,ENST00000522781,;FAM196A,synonymous_variant,p.%3D,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,;	1546	29	32	SUCCESS
NPS	594857	.	GRCh37	10	129350903	129350903	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	83	0	ENST00000398023.1:c.270A>T	p.Ter90CysextTer?	p.*90Cext*?	ENST00000398023	NM_001030013.1	90	tgA/tgT	0	.	.	.	.	.	T	*/C	protein_coding	YES	CCDS41577.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGACTAAG	NONE	.	.	.	.	.	ENSP00000381105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000398023	Transcript	.	.	ENSG00000214285	33940	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPS_HUMAN	NPS	HGNC	.	.	UPI000015F874	SNV	NPS,stop_lost,p.Ter90CysextTer?,ENST00000398023,;	290	84	73	SUCCESS
VENTX	27287	.	GRCh37	10	135053333	135053333	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	41	0	ENST00000325980.9:c.395A>T	p.Glu132Val	p.E132V	ENST00000325980	NM_014468.3	132	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7675.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGAGGTCC	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,PROSITE_patterns:PS00027,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF24,PROSITE_profiles:PS50071	.	.	ENSP00000357556	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000325980	Transcript	.	.	ENSG00000151650	13639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	VENTX_HUMAN	VENTX	HGNC	.	.	UPI0000070A25	SNV	VENTX,missense_variant,p.Glu132Val,ENST00000325980,;	906	41	40	SUCCESS
PLXDC2	84898	.	GRCh37	10	20105925	20105925	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	12	0	ENST00000377252.4:c.-84T>A		p.*28*	ENST00000377252	NM_032812.7			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7132.1	.	MUTECT|MUSE	.	GCGTTTGGCCC	NONE	.	.	.	.	.	ENSP00000366460	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000377252	Transcript	.	.	ENSG00000120594	21013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PXDC2_HUMAN	PLXDC2	HGNC	.	.	UPI0000048F2C	SNV	PLXDC2,5_prime_UTR_variant,,ENST00000377242,;PLXDC2,5_prime_UTR_variant,,ENST00000377252,;	758	12	10	SUCCESS
RAB18	22931	.	GRCh37	10	27822715	27822715	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	58	0	ENST00000356940.6:c.311A>G	p.Asn104Ser	p.N104S	ENST00000356940	NM_001256410.1	104	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7155.1	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAAATGAAT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF341,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00177,Superfamily_domains:SSF52540	.	.	ENSP00000349415	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000356940	Transcript	1	.	ENSG00000099246	14244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.16)	.	RAB18_HUMAN	RAB18	HGNC	B7Z5V3_HUMAN	.	UPI0000000A00	SNV	RAB18,missense_variant,p.Asn104Ser,ENST00000356940,;RAB18,missense_variant,p.Asn59Ser,ENST00000375802,;RAB18,missense_variant,p.Asn217Ser,ENST00000423465,;RAB18,intron_variant,,ENST00000535776,;RAB18,non_coding_transcript_exon_variant,,ENST00000465772,;	413	58	64	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49687731	49687731	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	69	0	ENST00000249601.4:c.399G>A	p.Met133Ile	p.M133I	ENST00000249601	NM_021226.3	133	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS58080.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCATGTC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521,PROSITE_profiles:PS50003	.	.	ENSP00000412461	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Met139Ile,ENST00000435790,;ARHGAP22,missense_variant,p.Met43Ile,ENST00000374170,;ARHGAP22,missense_variant,p.Met133Ile,ENST00000249601,;ARHGAP22,missense_variant,p.Met8Ile,ENST00000374172,;ARHGAP22,missense_variant,p.Met133Ile,ENST00000417912,;ARHGAP22,missense_variant,p.Met43Ile,ENST00000417247,;ARHGAP22,intron_variant,,ENST00000471013,;ARHGAP22,upstream_gene_variant,,ENST00000515523,;ARHGAP22,missense_variant,p.Met139Ile,ENST00000460425,;	555	69	69	SUCCESS
CHAT	1103	.	GRCh37	10	50873041	50873041	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	42	68	0	ENST00000337653.2:c.2196A>G	p.Pro732=	p.P732=	ENST00000337653	NM_020549.4	732	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7232.1	2196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCATTGGC	NONE	.	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589	.	.	ENSP00000337103	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000337653	Transcript	1	.	ENSG00000070748	1912	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,synonymous_variant,p.%3D,ENST00000351556,;CHAT,synonymous_variant,p.%3D,ENST00000395562,;CHAT,synonymous_variant,p.%3D,ENST00000395559,;CHAT,synonymous_variant,p.%3D,ENST00000339797,;CHAT,synonymous_variant,p.%3D,ENST00000337653,;CHAT,intron_variant,,ENST00000455728,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	2349	68	61	SUCCESS
DNA2	1763	.	GRCh37	10	70190319	70190319	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1178934359	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	105	0	ENST00000358410.3:c.2082A>G	p.Ile694Met	p.I694M	ENST00000358410	NM_001080449.2	694	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	.	2340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTATTTT	NONE	.	.	hmmpanther:PTHR10887:SF339,hmmpanther:PTHR10887,Gene3D:3.40.50.300,Pfam_domain:PF13086,Superfamily_domains:SSF52540	.	.	ENSP00000382133	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000399180	Transcript	1	.	ENSG00000138346	2939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	tolerated(0.05)	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,missense_variant,p.Ile694Met,ENST00000358410,;DNA2,missense_variant,p.Ile780Met,ENST00000399180,;DNA2,missense_variant,p.Ile16Met,ENST00000440722,;DNA2,intron_variant,,ENST00000399179,;DNA2,intron_variant,,ENST00000551118,;	2340	105	81	SUCCESS
ASCC1	51008	.	GRCh37	10	73892879	73892879	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	90	0	ENST00000342444.4:c.891A>G	p.Lys297=	p.K297=	ENST00000342444	NM_001198799.2	297	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS55713.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTTTCAC	NONE	.	.	Superfamily_domains:SSF55144,PIRSF_domain:PIRSF027019,Gene3D:3.90.1140.10,Pfam_domain:PF10469,hmmpanther:PTHR13360,hmmpanther:PTHR13360:SF1	.	.	ENSP00000339404	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000342444	Transcript	1	.	ENSG00000138303	24268	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASCC1_HUMAN	ASCC1	HGNC	E9PJM2_HUMAN	.	UPI000006F7E9	SNV	ASCC1,synonymous_variant,p.%3D,ENST00000394915,;ASCC1,synonymous_variant,p.%3D,ENST00000394919,;ASCC1,synonymous_variant,p.%3D,ENST00000530394,;ASCC1,synonymous_variant,p.%3D,ENST00000486689,;ASCC1,synonymous_variant,p.%3D,ENST00000545550,;ASCC1,synonymous_variant,p.%3D,ENST00000525286,;ASCC1,synonymous_variant,p.%3D,ENST00000317126,;ASCC1,synonymous_variant,p.%3D,ENST00000342444,;ASCC1,synonymous_variant,p.%3D,ENST00000317168,;ASCC1,non_coding_transcript_exon_variant,,ENST00000534259,;	993	90	79	SUCCESS
ZNF518A	9849	.	GRCh37	10	97916998	97916998	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	48	116	0	ENST00000316045.5:n.572-649A>G		p.*191*	ENST00000316045				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGACTTCT	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000478086,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	1776	116	87	SUCCESS
GOLGA7B	401647	.	GRCh37	10	99623744	99623744	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771822768	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	73	0	ENST00000370602.1:c.196G>A	p.Ala66Thr	p.A66T	ENST00000370602	NM_001010917.2	66	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31265.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGCTGAG	NONE	.	.	hmmpanther:PTHR13254:SF2,hmmpanther:PTHR13254,Pfam_domain:PF10256	.	.	ENSP00000359634	.	3/5	.	.	.	.	.	.	.	.	rs771822768	3/5	PASS	ENST00000370602	Transcript	.	.	ENSG00000155265	31668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GOG7B_HUMAN	GOLGA7B	HGNC	.	.	UPI0000197C37	SNV	GOLGA7B,missense_variant,p.Ala66Thr,ENST00000370602,;CRTAC1,downstream_gene_variant,,ENST00000298819,;CRTAC1,downstream_gene_variant,,ENST00000370597,;GOLGA7B,upstream_gene_variant,,ENST00000596005,;CRTAC1,downstream_gene_variant,,ENST00000413387,;GOLGA7B,upstream_gene_variant,,ENST00000423054,;	261	73	59	SUCCESS
MMP27	64066	.	GRCh37	11	102573828	102573828	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	32	94	0	ENST00000260229.4:c.363T>A	p.Asp121Glu	p.D121E	ENST00000260229	NM_022122.2	121	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS8319.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATATCCGG	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF115,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	.	ENSP00000260229	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000260229	Transcript	.	.	ENSG00000137675	14250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MMP27_HUMAN	MMP27	HGNC	.	.	UPI00001AE7D3	SNV	MMP27,missense_variant,p.Asp121Glu,ENST00000260229,;	455	94	56	SUCCESS
DDI1	414301	.	GRCh37	11	103908140	103908140	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	89	0	ENST00000302259.3:c.590G>T	p.Arg197Met	p.R197M	ENST00000302259	NM_001001711.2	197	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS31660.1	590	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGGCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	deleterious(0.02)	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,missense_variant,p.Arg197Met,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	833	89	47	SUCCESS
ZC3H12C	85463	.	GRCh37	11	110033998	110033998	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs765123686	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	88	0	ENST00000278590.3:c.1149G>T	p.Lys383Asn	p.K383N	ENST00000278590	NM_033390.1	383	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS44727.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGTTCAT	NONE	.	.	Pfam_domain:PF11977,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24	.	.	ENSP00000278590	.	5/6	.	.	.	.	.	.	.	.	rs765123686	5/6	PASS	ENST00000278590	Transcript	.	.	ENSG00000149289	29362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	ZC12C_HUMAN	ZC3H12C	HGNC	E9PP00_HUMAN	.	UPI0000DD80B8	SNV	ZC3H12C,missense_variant,p.Lys352Asn,ENST00000453089,;ZC3H12C,missense_variant,p.Lys383Asn,ENST00000278590,;ZC3H12C,missense_variant,p.Lys384Asn,ENST00000528673,;	1200	88	51	SUCCESS
DCDC1	341019	.	GRCh37	11	30946867	30946867	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	68	0	ENST00000339794.5:c.223A>G	p.Arg75Gly	p.R75G	ENST00000339794		75	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	.	.	2986	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTTTGCA	NONE	.	.	PROSITE_profiles:PS50309,hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837	.	.	ENSP00000472625	.	21/36	.	.	.	.	.	.	.	.	.	21/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.291)	.	deleterious(0)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Arg996Gly,ENST00000597505,;DCDC1,missense_variant,p.Arg75Gly,ENST00000339794,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,missense_variant,p.Arg31Gly,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	2986	68	44	SUCCESS
ZNF408	79797	.	GRCh37	11	46724704	46724704	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	83	0	ENST00000311764.2:c.563A>T	p.Glu188Val	p.E188V	ENST00000311764	NM_024741.2	188	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7923.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGAGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402:SF175,hmmpanther:PTHR24402	.	.	ENSP00000309606	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000311764	Transcript	.	.	ENSG00000175213	20041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	deleterious(0.05)	.	ZN408_HUMAN	ZNF408	HGNC	.	.	UPI0000132189	SNV	ZNF408,missense_variant,p.Glu188Val,ENST00000311764,;ARHGAP1,upstream_gene_variant,,ENST00000311956,;ZNF408,non_coding_transcript_exon_variant,,ENST00000527008,;ZNF408,downstream_gene_variant,,ENST00000534481,;ZNF408,downstream_gene_variant,,ENST00000531866,;ZNF408,downstream_gene_variant,,ENST00000526410,;ARHGAP1,upstream_gene_variant,,ENST00000529960,;ARHGAP1,upstream_gene_variant,,ENST00000524594,;	793	83	36	SUCCESS
NR1H3	10062	.	GRCh37	11	47289839	47289839	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	94	0	ENST00000441012.2:c.1130A>C	p.Gln377Pro	p.Q377P	ENST00000441012	NM_005693.3	377	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS7929.1	1130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGGTAG	NONE	.	.	hmmpanther:PTHR24082:SF259,hmmpanther:PTHR24082,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000420656	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000467728	Transcript	.	.	ENSG00000025434	7966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	tolerated(0.07)	.	NR1H3_HUMAN	NR1H3	HGNC	F1D8N1_HUMAN,C9JTS4_HUMAN,C9JJ16_HUMAN,C9JEC2_HUMAN,C9JCS0_HUMAN,C9JBS2_HUMAN,C9J4R0_HUMAN,C9J2C8_HUMAN	.	UPI000013050C	SNV	NR1H3,missense_variant,p.Gln226Pro,ENST00000527949,;NR1H3,missense_variant,p.Gln332Pro,ENST00000395397,;NR1H3,missense_variant,p.Gln377Pro,ENST00000441012,;NR1H3,missense_variant,p.Gln272Pro,ENST00000405576,;NR1H3,missense_variant,p.Gln396Pro,ENST00000481889,;NR1H3,missense_variant,p.Gln317Pro,ENST00000407404,;NR1H3,missense_variant,p.Gln317Pro,ENST00000405853,;NR1H3,missense_variant,p.Gln377Pro,ENST00000467728,;MADD,upstream_gene_variant,,ENST00000349238,;MADD,upstream_gene_variant,,ENST00000453571,;MADD,upstream_gene_variant,,ENST00000406482,;MADD,upstream_gene_variant,,ENST00000422579,;MADD,upstream_gene_variant,,ENST00000395336,;MADD,upstream_gene_variant,,ENST00000428807,;MADD,upstream_gene_variant,,ENST00000402192,;MADD,upstream_gene_variant,,ENST00000311027,;MADD,upstream_gene_variant,,ENST00000402799,;NR1H3,downstream_gene_variant,,ENST00000531660,;MADD,upstream_gene_variant,,ENST00000395344,;MADD,upstream_gene_variant,,ENST00000444117,;MADD,upstream_gene_variant,,ENST00000407859,;MADD,upstream_gene_variant,,ENST00000342922,;RP11-17G12.3,downstream_gene_variant,,ENST00000545474,;RP11-17G12.3,downstream_gene_variant,,ENST00000543925,;NR1H3,non_coding_transcript_exon_variant,,ENST00000532630,;NR1H3,non_coding_transcript_exon_variant,,ENST00000529540,;MADD,upstream_gene_variant,,ENST00000534808,;MADD,upstream_gene_variant,,ENST00000526603,;NR1H3,non_coding_transcript_exon_variant,,ENST00000481020,;NR1H3,non_coding_transcript_exon_variant,,ENST00000494018,;NR1H3,non_coding_transcript_exon_variant,,ENST00000462051,;	2368	94	57	SUCCESS
OR52A1	23538	.	GRCh37	11	5172674	5172674	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1259508514	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	85	0	ENST00000328942.1:c.926T>C	p.Met309Thr	p.M309T	ENST00000328942	NM_012375.2	309	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS31374.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACATTTTT	NONE	.	.	hmmpanther:PTHR26450:SF98,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369725	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380367	Transcript	.	.	ENSG00000182070	8318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0.02)	.	O52A1_HUMAN	OR52A1	HGNC	.	.	UPI0000140B1E	SNV	OR52A1,missense_variant,p.Met309Thr,ENST00000380367,;OR52A1,missense_variant,p.Met309Thr,ENST00000328942,;	1344	85	51	SUCCESS
LRRC56	115399	.	GRCh37	11	552109	552109	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	99	0	ENST00000270115.7:c.1058A>T	p.Gln353Leu	p.Q353L	ENST00000270115	NM_198075.3	353	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS7700.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCAGCTGC	NONE	.	.	hmmpanther:PTHR22708:SF0,hmmpanther:PTHR22708	.	.	ENSP00000270115	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000270115	Transcript	.	.	ENSG00000161328	25430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	tolerated(0.09)	.	LRC56_HUMAN	LRRC56	HGNC	.	.	UPI000007425F	SNV	LRRC56,missense_variant,p.Gln353Leu,ENST00000270115,;C11orf35,downstream_gene_variant,,ENST00000329451,;C11orf35,downstream_gene_variant,,ENST00000441853,;C11orf35,downstream_gene_variant,,ENST00000469990,;	1558	99	70	SUCCESS
TRIM6	117854	.	GRCh37	11	5624771	5624771	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs971719179	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	65	0	ENST00000278302.5:c.229A>G	p.Ile77Val	p.I77V	ENST00000278302	NM_058166.4	77	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31389.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACATAGTG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF290,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000369440	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000380097	Transcript	.	.	ENSG00000121236	16277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.04)	.	TRIM6_HUMAN	TRIM6	HGNC	C9JNQ0_HUMAN	.	UPI000041A255	SNV	TRIM6,missense_variant,p.Ile77Val,ENST00000380107,;TRIM6-TRIM34,missense_variant,p.Ile105Val,ENST00000354852,;TRIM6,missense_variant,p.Ile77Val,ENST00000278302,;TRIM6,missense_variant,p.Ile105Val,ENST00000380097,;TRIM6,intron_variant,,ENST00000506134,;TRIM6,intron_variant,,ENST00000507320,;HBG2,intron_variant,,ENST00000380259,;TRIM6,intron_variant,,ENST00000515022,;TRIM6,intron_variant,,ENST00000424369,;TRIM6,intron_variant,,ENST00000445329,;AC015691.13,intron_variant,,ENST00000394793,;TRIM6,intron_variant,,ENST00000511284,;TRIM6,upstream_gene_variant,,ENST00000481603,;TRIM6,upstream_gene_variant,,ENST00000469187,;	555	65	29	SUCCESS
OR5B17	219965	.	GRCh37	11	58126348	58126348	+	synonymous_variant	Silent	SNP	A	A	G	rs770092223	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	83	0	ENST00000357377.3:c.195T>C	p.Ser65=	p.S65=	ENST00000357377	NM_001005489.1	65	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31548.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGAGACAG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,PROSITE_profiles:PS50262	.	.	ENSP00000349945	.	1/1	.	.	.	.	.	.	.	.	rs770092223	1/1	PASS	ENST00000357377	Transcript	.	.	ENSG00000197786	15267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5BH_HUMAN	OR5B17	HGNC	.	.	UPI0000041DFA	SNV	OR5B17,synonymous_variant,p.%3D,ENST00000357377,;AP000435.3,upstream_gene_variant,,ENST00000528539,;	195	83	25	SUCCESS
FLRT1	23769	.	GRCh37	11	63883947	63883947	+	synonymous_variant	Silent	SNP	C	C	A	rs139162750	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	17	49	0	ENST00000246841.3:c.208C>A	p.Arg70=	p.R70=	ENST00000246841	NM_013280.4	70	Cgg/Agg	0	T:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS8057.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGACCGGGGA	NONE	byCluster	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,Pfam_domain:PF01462,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	T:0	ENSP00000246841	.	2/2	.	.	.	.	.	.	.	.	rs139162750	2/2	PASS	ENST00000246841	Transcript	.	.	ENSG00000126500	3760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT1_HUMAN	FLRT1	HGNC	O43408_HUMAN	.	UPI0000039F94	SNV	FLRT1,synonymous_variant,p.%3D,ENST00000246841,;MACROD1,intron_variant,,ENST00000255681,;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000545464,;	1251	49	25	SUCCESS
CCDC88B	283234	.	GRCh37	11	64111953	64111953	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	83	0	ENST00000356786.5:c.1940A>G	p.Glu647Gly	p.E647G	ENST00000356786	NM_032251.5	647	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8072.2	1940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGAGCACA	NONE	.	.	hmmpanther:PTHR18947:SF29,hmmpanther:PTHR18947	.	.	ENSP00000349238	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000356786	Transcript	.	.	ENSG00000168071	26757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.26)	.	CC88B_HUMAN	CCDC88B	HGNC	.	.	UPI00001FAAA6	SNV	CCDC88B,missense_variant,p.Glu647Gly,ENST00000356786,;CCDC88B,5_prime_UTR_variant,,ENST00000301897,;CCDC88B,upstream_gene_variant,,ENST00000359902,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494566,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000492980,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;	1984	83	49	SUCCESS
INPPL1	3636	.	GRCh37	11	71948760	71948760	+	synonymous_variant	Silent	SNP	C	C	T	rs1273181324	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	95	0	ENST00000298229.2:c.3472C>T	p.Leu1158=	p.L1158=	ENST00000298229	NM_001567.3	1158	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8213.1	3472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACTGCCC	NONE	.	.	.	.	.	ENSP00000298229	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000298229	Transcript	.	.	ENSG00000165458	6080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHIP2_HUMAN	INPPL1	HGNC	H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN	.	UPI000013E4AF	SNV	INPPL1,synonymous_variant,p.%3D,ENST00000541752,;INPPL1,synonymous_variant,p.%3D,ENST00000538751,;INPPL1,synonymous_variant,p.%3D,ENST00000298229,;INPPL1,synonymous_variant,p.%3D,ENST00000541756,;INPPL1,synonymous_variant,p.%3D,ENST00000320683,;PHOX2A,downstream_gene_variant,,ENST00000298231,;PHOX2A,downstream_gene_variant,,ENST00000546310,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000542295,;	3676	95	56	SUCCESS
GCN1L1	0	.	GRCh37	12	120575521	120575521	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764771009	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	83	0	ENST00000300648.6:c.6491A>G	p.Glu2164Gly	p.E2164G	ENST00000300648	NM_006836.1	2164	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41847.1	6491	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTCAGGG	NONE	byFrequency	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	49/58	.	.	.	.	.	.	.	.	rs764771009	49/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.08)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Glu2164Gly,ENST00000300648,;GCN1L1,downstream_gene_variant,,ENST00000547263,;GCN1L1,upstream_gene_variant,,ENST00000549815,;	6504	83	65	SUCCESS
KNTC1	9735	.	GRCh37	12	123086099	123086099	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	29	0	ENST00000333479.7:c.4580A>G	p.Tyr1527Cys	p.Y1527C	ENST00000333479	NM_014708.4	1527	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45002.1	4580	RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATGAAA	NONE	.	.	hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688	.	.	ENSP00000328236	.	45/64	.	.	.	.	.	.	.	.	.	45/64	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	KNTC1,missense_variant,p.Tyr1527Cys,ENST00000333479,;KNTC1,missense_variant,p.Tyr86Cys,ENST00000423927,;KNTC1,intron_variant,,ENST00000450485,;KNTC1,upstream_gene_variant,,ENST00000436959,;KNTC1,upstream_gene_variant,,ENST00000537348,;KNTC1,upstream_gene_variant,,ENST00000546125,;KNTC1,intron_variant,,ENST00000545065,;KNTC1,intron_variant,,ENST00000535186,;KNTC1,non_coding_transcript_exon_variant,,ENST00000377192,;KNTC1,upstream_gene_variant,,ENST00000541466,;	4757	29	28	SUCCESS
CCDC92	80212	.	GRCh37	12	124427315	124427315	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	72	1	ENST00000238156.3:c.199A>G	p.Thr67Ala	p.T67A	ENST00000238156	NM_025140.1	67	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9256.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTCAGCT	BUFFER|p.S70C|c.208A>T|3	.	.	hmmpanther:PTHR14882:SF4,hmmpanther:PTHR14882,Pfam_domain:PF14916	.	.	ENSP00000238156	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000238156	Transcript	.	.	ENSG00000119242	29563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	tolerated(0.3)	.	CCD92_HUMAN	CCDC92	HGNC	F5H7P8_HUMAN,F5H2Z7_HUMAN,F5H285_HUMAN,B3KNQ0_HUMAN	.	UPI000006FF96	SNV	CCDC92,missense_variant,p.Thr50Ala,ENST00000545135,;CCDC92,missense_variant,p.Thr67Ala,ENST00000539551,;CCDC92,missense_variant,p.Thr67Ala,ENST00000238156,;CCDC92,missense_variant,p.Thr67Ala,ENST00000539761,;CCDC92,missense_variant,p.Thr50Ala,ENST00000545891,;CCDC92,missense_variant,p.Thr50Ala,ENST00000535556,;CCDC92,downstream_gene_variant,,ENST00000545037,;CCDC92,non_coding_transcript_exon_variant,,ENST00000544798,;CCDC92,non_coding_transcript_exon_variant,,ENST00000542348,;	554	73	66	SUCCESS
HEBP1	50865	.	GRCh37	12	13140036	13140036	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	23	52	0	ENST00000014930.4:c.398+50C>T		p.*133*	ENST00000014930	NM_015987.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGGTACGG	NONE	.	.	.	.	.	ENSP00000014930	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000014930	Transcript	.	.	ENSG00000013583	17176	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEBP1_HUMAN	HEBP1	HGNC	F5GWX2_HUMAN	.	UPI0000038D71	SNV	HEBP1,3_prime_UTR_variant,,ENST00000536942,;HEBP1,intron_variant,,ENST00000014930,;HEBP1,intron_variant,,ENST00000535636,;RP11-392P7.6,downstream_gene_variant,,ENST00000607894,;RP11-392P7.6,downstream_gene_variant,,ENST00000499948,;RP11-392P7.6,downstream_gene_variant,,ENST00000542078,;	.	52	26	SUCCESS
C2CD5	9847	.	GRCh37	12	22676443	22676443	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	85	0	ENST00000333957.4:c.717A>T	p.Ile239=	p.I239=	ENST00000333957	NM_014802.1	239	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31758.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTATGGC	NONE	.	.	.	.	.	ENSP00000334229	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,synonymous_variant,p.%3D,ENST00000544281,;C2CD5,synonymous_variant,p.%3D,ENST00000545552,;C2CD5,synonymous_variant,p.%3D,ENST00000333957,;C2CD5,synonymous_variant,p.%3D,ENST00000544930,;C2CD5,synonymous_variant,p.%3D,ENST00000542676,;C2CD5,synonymous_variant,p.%3D,ENST00000446597,;C2CD5,synonymous_variant,p.%3D,ENST00000536386,;C2CD5,synonymous_variant,p.%3D,ENST00000396028,;C2CD5,non_coding_transcript_exon_variant,,ENST00000540703,;C2CD5,synonymous_variant,p.%3D,ENST00000542683,;C2CD5,non_coding_transcript_exon_variant,,ENST00000541310,;	973	86	49	SUCCESS
SYT10	341359	.	GRCh37	12	33592502	33592502	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	28	0	ENST00000228567.3:c.-45A>G		p.*15*	ENST00000228567	NM_198992.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8732.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGTCTTTT	NONE	.	.	.	.	.	ENSP00000228567	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000228567	Transcript	.	.	ENSG00000110975	19266	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT10_HUMAN	SYT10	HGNC	F5H2A8_HUMAN	.	UPI0000052B30	SNV	SYT10,5_prime_UTR_variant,,ENST00000228567,;SYT10,5_prime_UTR_variant,,ENST00000535526,;SYT10,5_prime_UTR_variant,,ENST00000539102,;	253	28	35	SUCCESS
RPAP3	79657	.	GRCh37	12	48064026	48064026	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	48	0	ENST00000005386.3:c.1390A>T	p.Asn464Tyr	p.N464Y	ENST00000005386	NM_024604.2	464	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8753.1	1390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATTAATAG	NONE	.	.	hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF292	.	.	ENSP00000005386	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000005386	Transcript	.	.	ENSG00000005175	26151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	deleterious(0.01)	.	RPAP3_HUMAN	RPAP3	HGNC	.	.	UPI0000035DAB	SNV	RPAP3,missense_variant,p.Asn305Tyr,ENST00000432584,;RPAP3,missense_variant,p.Asn464Tyr,ENST00000005386,;RPAP3,missense_variant,p.Asn430Tyr,ENST00000380650,;	1506	48	52	SUCCESS
DDN	23109	.	GRCh37	12	49391094	49391094	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	80	177	0	ENST00000421952.2:c.1565A>T	p.Gln522Leu	p.Q522L	ENST00000421952	NM_015086.1	522	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS31791.2	1565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCTGGTGT	NONE	.	.	hmmpanther:PTHR16757,Pfam_domain:PF15498	.	.	ENSP00000390590	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421952	Transcript	.	.	ENSG00000181418	24458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	deleterious_low_confidence(0.05)	.	DEND_HUMAN	DDN	HGNC	.	.	UPI000019821C	SNV	DDN,missense_variant,p.Gln522Leu,ENST00000421952,;PRKAG1,downstream_gene_variant,,ENST00000316299,;PRKAG1,downstream_gene_variant,,ENST00000548065,;PRKAG1,downstream_gene_variant,,ENST00000548362,;PRKAG1,downstream_gene_variant,,ENST00000395170,;PRKAG1,downstream_gene_variant,,ENST00000547306,;RP11-386G11.5,upstream_gene_variant,,ENST00000547395,;RP11-386G11.5,upstream_gene_variant,,ENST00000547866,;RP11-386G11.5,upstream_gene_variant,,ENST00000552933,;RP11-386G11.5,upstream_gene_variant,,ENST00000552284,;RP11-386G11.3,downstream_gene_variant,,ENST00000549516,;	1587	177	163	SUCCESS
RACGAP1	29127	.	GRCh37	12	50388003	50388003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	90	0	ENST00000312377.5:c.1250C>T	p.Ala417Val	p.A417V	ENST00000312377		417	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8795.1	1250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGCATGG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23174:SF7,hmmpanther:PTHR23174,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000413241	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000434422	Transcript	.	.	ENSG00000161800	9804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	RGAP1_HUMAN	RACGAP1	HGNC	F8W0L1_HUMAN,F8VZ66_HUMAN,F8VYH6_HUMAN,F8VWY4_HUMAN,F8VWX0_HUMAN,F8VV47_HUMAN,F8VV39_HUMAN,F8VV37_HUMAN,F8VUW9_HUMAN,F8VS54_HUMAN,F8VRL2_HUMAN,F8VRD2_HUMAN,F8VQZ5_HUMAN	.	UPI0000037CA0	SNV	RACGAP1,missense_variant,p.Ala417Val,ENST00000312377,;RACGAP1,missense_variant,p.Ala153Val,ENST00000549342,;RACGAP1,missense_variant,p.Ala417Val,ENST00000454520,;RACGAP1,missense_variant,p.Ala417Val,ENST00000547905,;RACGAP1,missense_variant,p.Ala417Val,ENST00000434422,;RACGAP1,missense_variant,p.Ala417Val,ENST00000427314,;RACGAP1,missense_variant,p.Ala417Val,ENST00000551016,;RACGAP1,upstream_gene_variant,,ENST00000548961,;RACGAP1,downstream_gene_variant,,ENST00000552310,;RACGAP1,downstream_gene_variant,,ENST00000548320,;RACGAP1,downstream_gene_variant,,ENST00000547061,;RACGAP1,downstream_gene_variant,,ENST00000548598,;	1552	90	97	SUCCESS
SMAGP	57228	.	GRCh37	12	51663119	51663119	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	33	0	ENST00000398453.3:c.-38-19T>A		p.*13*	ENST00000398453	NM_001033873.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44889.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAAGACAG	NONE	.	.	.	.	.	ENSP00000475068	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000603798	Transcript	.	.	ENSG00000170545	26918	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAGP_HUMAN	SMAGP	HGNC	S4R466_HUMAN,S4R3E1_HUMAN,Q7L5E9_HUMAN	.	UPI00001FC254	SNV	SMAGP,5_prime_UTR_variant,,ENST00000603864,;SMAGP,intron_variant,,ENST00000603838,;DAZAP2,intron_variant,,ENST00000604900,;SMAGP,intron_variant,,ENST00000398453,;SMAGP,intron_variant,,ENST00000604188,;SMAGP,intron_variant,,ENST00000605627,;SMAGP,intron_variant,,ENST00000605426,;SMAGP,intron_variant,,ENST00000603798,;SMAGP,upstream_gene_variant,,ENST00000380103,;	.	33	32	SUCCESS
KRT71	112802	.	GRCh37	12	52938508	52938508	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs756551310	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	34	0	ENST00000267119.5:c.1380T>G	p.Ser460Arg	p.S460R	ENST00000267119	NM_033448.2	460	agT/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS8831.1	1380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCACTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116	.	.	ENSP00000267119	.	9/9	.	.	.	.	.	.	.	.	rs756551310	9/9	PASS	ENST00000267119	Transcript	.	.	ENSG00000139648	28927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0.02)	.	K2C71_HUMAN	KRT71	HGNC	.	.	UPI0000052B57	SNV	KRT71,missense_variant,p.Ser460Arg,ENST00000267119,;	1450	34	21	SUCCESS
KRT1	3848	.	GRCh37	12	53073703	53073703	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs557388955	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	179	0	ENST00000252244.3:c.430G>T	p.Gly144Cys	p.G144C	ENST00000252244	NM_006121.3	144	Ggt/Tgt	0	.	A:0	.	A:0.0014	.	A	G/C	protein_coding	YES	CCDS8836.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCATAAC	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF95,hmmpanther:PTHR23239	A:0	.	ENSP00000252244	A:0	1/9	.	.	.	.	.	.	.	.	rs557388955	1/9	PASS	ENST00000252244	Transcript	.	A:0.0002	ENSG00000167768	6412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	tolerated(0.21)	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,missense_variant,p.Gly144Cys,ENST00000252244,;KRT1,upstream_gene_variant,,ENST00000548765,;	489	179	105	SUCCESS
ARHGAP9	64333	.	GRCh37	12	57873586	57873586	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	11	113	0	ENST00000393791.3:c.-92T>G		p.*31*	ENST00000393791	NM_032496.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8941.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACACAGGAAG	NONE	.	.	.	.	.	ENSP00000377380	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000393791	Transcript	.	.	ENSG00000123329	14130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHG09_HUMAN	ARHGAP9	HGNC	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN	.	UPI000007131B	SNV	ARHGAP9,5_prime_UTR_variant,,ENST00000356411,;ARHGAP9,5_prime_UTR_variant,,ENST00000552249,;ARHGAP9,5_prime_UTR_variant,,ENST00000393791,;ARHGAP9,intron_variant,,ENST00000550288,;ARHGAP9,intron_variant,,ENST00000393797,;ARHGAP9,upstream_gene_variant,,ENST00000552604,;ARHGAP9,upstream_gene_variant,,ENST00000430041,;ARHGAP9,upstream_gene_variant,,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,upstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000548139,;ARHGAP9,upstream_gene_variant,,ENST00000552066,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;ARHGAP9,upstream_gene_variant,,ENST00000424809,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,upstream_gene_variant,,ENST00000550454,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,upstream_gene_variant,,ENST00000551000,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000546200,;ARHGAP9,upstream_gene_variant,,ENST00000551574,;ARHGAP9,upstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000548148,;	48	113	86	SUCCESS
CAND1	55832	.	GRCh37	12	67691234	67691234	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	106	0	ENST00000545606.1:c.539T>C	p.Leu180Pro	p.L180P	ENST00000545606	NM_018448.3	180	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS8977.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTACTTC	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Leu180Pro,ENST00000545606,;CAND1,downstream_gene_variant,,ENST00000540525,;CAND1,upstream_gene_variant,,ENST00000544619,;CAND1,missense_variant,p.Leu62Pro,ENST00000540319,;CAND1,non_coding_transcript_exon_variant,,ENST00000535146,;CAND1,downstream_gene_variant,,ENST00000539434,;	976	106	104	SUCCESS
NAV3	89795	.	GRCh37	12	78362415	78362415	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	81	183	0	ENST00000397909.2:c.604C>A	p.Arg202=	p.R202=	ENST00000397909	NM_001024383.1	202	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS41815.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGAGTT	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18,Superfamily_domains:SSF47576	.	.	ENSP00000446132	.	5/39	.	.	.	.	.	.	.	.	COSM240824	5/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,synonymous_variant,p.%3D,ENST00000536525,;NAV3,synonymous_variant,p.%3D,ENST00000397909,;NAV3,synonymous_variant,p.%3D,ENST00000266692,;NAV3,synonymous_variant,p.%3D,ENST00000550503,;NAV3,synonymous_variant,p.%3D,ENST00000228327,;NAV3,synonymous_variant,p.%3D,ENST00000549464,;NAV3,non_coding_transcript_exon_variant,,ENST00000547725,;	777	183	194	SUCCESS
MFAP5	8076	.	GRCh37	12	8800721	8800721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	63	153	0	ENST00000359478.2:c.488A>G	p.Glu163Gly	p.E163G	ENST00000359478	NM_003480.2	163	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS8595.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTCACAG	NONE	.	.	hmmpanther:PTHR16485:SF5,hmmpanther:PTHR16485	.	.	ENSP00000352455	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000359478	Transcript	.	.	ENSG00000197614	29673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	deleterious(0.01)	.	MFAP5_HUMAN	MFAP5	HGNC	H0YGS3_HUMAN,F5H1C0_HUMAN	.	UPI000012F034	SNV	MFAP5,missense_variant,p.Glu163Gly,ENST00000359478,;MFAP5,missense_variant,p.Glu141Gly,ENST00000543369,;MFAP5,missense_variant,p.Glu138Gly,ENST00000433590,;MFAP5,missense_variant,p.Glu153Gly,ENST00000540087,;MFAP5,missense_variant,p.Glu153Gly,ENST00000535411,;MFAP5,missense_variant,p.Glu153Gly,ENST00000396549,;MFAP5,missense_variant,p.Glu69Gly,ENST00000543467,;MFAP5,missense_variant,p.Glu99Gly,ENST00000535336,;MFAP5,downstream_gene_variant,,ENST00000544889,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538694,;MFAP5,downstream_gene_variant,,ENST00000538107,;MFAP5,3_prime_UTR_variant,,ENST00000544211,;MFAP5,downstream_gene_variant,,ENST00000537009,;MFAP5,downstream_gene_variant,,ENST00000534833,;	676	153	76	SUCCESS
NEDD1	121441	.	GRCh37	12	97337446	97337446	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs889272984	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	57	0	ENST00000266742.4:c.1403C>A	p.Ser468Tyr	p.S468Y	ENST00000266742	NM_152905.3	468	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44955.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATCTCCAG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333	.	.	ENSP00000451211	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000557644	Transcript	.	.	ENSG00000139350	7723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.08)	.	.	NEDD1	HGNC	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V3F1_HUMAN,G3V2V3_HUMAN,G3V2M9_HUMAN	.	UPI000004D249	SNV	NEDD1,missense_variant,p.Ser379Tyr,ENST00000457368,;NEDD1,missense_variant,p.Ser475Tyr,ENST00000557644,;NEDD1,missense_variant,p.Ser468Tyr,ENST00000266742,;NEDD1,missense_variant,p.Ser468Tyr,ENST00000429527,;NEDD1,missense_variant,p.Ser379Tyr,ENST00000411739,;	1570	57	53	SUCCESS
GAS6	2621	.	GRCh37	13	114535616	114535616	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs200744856	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	38	0	ENST00000327773.6:c.944A>T	p.Gln315Leu	p.Q315L	ENST00000327773	NM_000820.2	315	cAg/cTg	0	.	C:0	.	C:0	.	A	Q/L	protein_coding	YES	CCDS45072.1	944	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGCAGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24035:SF21,hmmpanther:PTHR24035,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	C:0.001	.	ENSP00000331831	C:0	9/15	.	.	.	.	.	.	.	.	rs200744856	9/15	PASS	ENST00000327773	Transcript	.	C:0.0002	ENSG00000183087	4168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.961)	C:0	deleterious(0.04)	.	GAS6_HUMAN	GAS6	HGNC	B4DZY7_HUMAN	.	UPI0000073CCA	SNV	GAS6,missense_variant,p.Gln261Leu,ENST00000355761,;GAS6,missense_variant,p.Gln315Leu,ENST00000327773,;GAS6,missense_variant,p.Gln358Leu,ENST00000357389,;GAS6,missense_variant,p.Gln42Leu,ENST00000450766,;GAS6,missense_variant,p.Gln16Leu,ENST00000418959,;GAS6-AS1,intron_variant,,ENST00000458001,;GAS6,non_coding_transcript_exon_variant,,ENST00000610073,;GAS6,non_coding_transcript_exon_variant,,ENST00000480426,;	1091	38	36	SUCCESS
RASA3	22821	.	GRCh37	13	114766318	114766318	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	116	0	ENST00000334062.7:c.1833C>A	p.Thr611=	p.T611=	ENST00000334062	NM_007368.2	611	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32016.1	1833	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAGGTAAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10194:SF53,hmmpanther:PTHR10194,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00323,SMART_domains:SM00233,Superfamily_domains:SSF50729,Superfamily_domains:SSF48350	.	.	ENSP00000335029	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000334062	Transcript	.	.	ENSG00000185989	20331	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA3_HUMAN	RASA3	HGNC	F8W6X8_HUMAN	.	UPI000000DBC1	SNV	RASA3,synonymous_variant,p.%3D,ENST00000389544,;RASA3,synonymous_variant,p.%3D,ENST00000334062,;	1955	116	78	SUCCESS
LATS2	26524	.	GRCh37	13	21549409	21549409	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	82	0	ENST00000382592.4:c.2867A>T	p.Asp956Val	p.D956V	ENST00000382592	NM_014572.2	956	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9294.1	2867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTCTGCG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149,PROSITE_profiles:PS50011	.	.	ENSP00000372035	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000382592	Transcript	.	.	ENSG00000150457	6515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0)	.	LATS2_HUMAN	LATS2	HGNC	.	.	UPI000013DBF5	SNV	LATS2,missense_variant,p.Asp956Val,ENST00000542899,;LATS2,missense_variant,p.Asp956Val,ENST00000382592,;	3273	82	67	SUCCESS
MIPEP	4285	.	GRCh37	13	24410481	24410481	+	synonymous_variant	Silent	SNP	C	C	T	rs1216178185	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	50	0	ENST00000382172.3:c.1551G>A	p.Arg517=	p.R517=	ENST00000382172	NM_005932.3	517	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9303.1	1551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACCTGGT	NONE	.	.	hmmpanther:PTHR11804:SF5,hmmpanther:PTHR11804,Gene3D:3.40.390.10,Pfam_domain:PF01432,Superfamily_domains:SSF55486	.	.	ENSP00000371607	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000382172	Transcript	.	.	ENSG00000027001	7104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIPEP_HUMAN	MIPEP	HGNC	.	.	UPI000013C54A	SNV	MIPEP,synonymous_variant,p.%3D,ENST00000382172,;	1650	50	44	SUCCESS
ATP12A	479	.	GRCh37	13	25284608	25284608	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	37	150	0	ENST00000381946.3:c.2774A>G	p.Gln925Arg	p.Q925R	ENST00000381946		925	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS53858.1	2792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACCAGAGGG	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Superfamily_domains:0049473	.	.	ENSP00000218548	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Gln931Arg,ENST00000218548,;ATP12A,missense_variant,p.Gln925Arg,ENST00000381946,;	3125	150	78	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679439	37679439	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs746985487	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	47	0	ENST00000379800.3:c.-46C>A		p.*16*	ENST00000379800	NM_145203.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9363.1	.	MUTECT|MUSE|VARSCANS	.	CTCTAGGGGAG	NONE	byFrequency	.	.	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	rs746985487	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,5_prime_UTR_variant,,ENST00000379800,;	365	47	44	SUCCESS
WBP4	11193	.	GRCh37	13	41656941	41656941	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	96	0	ENST00000379487.3:c.1022C>T	p.Thr341Ile	p.T341I	ENST00000379487	NM_007187.3	341	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS9375.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACAGTCA	NONE	.	.	hmmpanther:PTHR13173	.	.	ENSP00000368801	.	10/10	.	.	.	.	.	.	.	.	COSM947415	10/10	PASS	ENST00000379487	Transcript	.	.	ENSG00000120688	12739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.677)	.	tolerated(0.15)	1	WBP4_HUMAN	WBP4	HGNC	.	.	UPI0000072671	SNV	WBP4,missense_variant,p.Thr341Ile,ENST00000379487,;WBP4,missense_variant,p.Thr320Ile,ENST00000542082,;	1422	96	70	SUCCESS
TNFSF11	8600	.	GRCh37	13	43174893	43174893	+	synonymous_variant	Silent	SNP	A	A	G	rs375216189	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	44	0	ENST00000398795.2:c.174A>G	p.Leu58=	p.L58=	ENST00000398795	NM_003701.3	58	ttA/ttG	0	G:0.0002	.	.	.	.	G	L	protein_coding	YES	CCDS9384.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTACAACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF3,PIRSF_domain:PIRSF038013	.	G:0.0001	ENSP00000239849	.	3/5	.	.	.	.	.	.	.	.	rs375216189	3/5	PASS	ENST00000239849	Transcript	.	.	ENSG00000120659	11926	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNF11_HUMAN	TNFSF11	HGNC	Q5T9Y4_HUMAN,Q54A98_HUMAN	.	UPI000003BC8E	SNV	TNFSF11,synonymous_variant,p.%3D,ENST00000358545,;TNFSF11,synonymous_variant,p.%3D,ENST00000544862,;TNFSF11,synonymous_variant,p.%3D,ENST00000398795,;TNFSF11,synonymous_variant,p.%3D,ENST00000239849,;TNFSF11,synonymous_variant,p.%3D,ENST00000405262,;	544	44	35	SUCCESS
AHNAK2	113146	.	GRCh37	14	105408806	105408806	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769614137	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	49	87	0	ENST00000333244.5:c.12982G>A	p.Val4328Met	p.V4328M	ENST00000333244	NM_138420.2	4328	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45177.1	12982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACCTTCA	NONE	byFrequency	.	.	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs769614137	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Val4328Met,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	13102	87	76	SUCCESS
GZMB	3002	.	GRCh37	14	25101298	25101298	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	50	0	ENST00000216341.4:c.366A>T	p.Arg122Ser	p.R122S	ENST00000216341		122	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9633.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTCTGGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF15,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216341	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000216341	Transcript	.	.	ENSG00000100453	4709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	GRAB_HUMAN	GZMB	HGNC	.	.	UPI000004E7FD	SNV	GZMB,missense_variant,p.Arg156Ser,ENST00000382542,;GZMB,missense_variant,p.Arg77Ser,ENST00000382540,;GZMB,missense_variant,p.Arg110Ser,ENST00000415355,;GZMB,missense_variant,p.Arg122Ser,ENST00000216341,;GZMB,missense_variant,p.Glu77Val,ENST00000526004,;RP11-104E19.1,intron_variant,,ENST00000555300,;RP11-104E19.1,intron_variant,,ENST00000557736,;GZMB,missense_variant,p.Ser28Cys,ENST00000532263,;GZMB,missense_variant,p.Glu77Val,ENST00000554242,;GZMB,3_prime_UTR_variant,,ENST00000530830,;	473	50	51	SUCCESS
FAM179B	0	.	GRCh37	14	45433642	45433642	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	23	44	0	ENST00000361577.3:c.2018A>T	p.Gln673Leu	p.Q673L	ENST00000361577	NM_015091.2	673	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS9681.1	2018	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAGACCT	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.05)	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,missense_variant,p.Gln673Leu,ENST00000382233,;FAM179B,missense_variant,p.Gln673Leu,ENST00000361577,;FAM179B,missense_variant,p.Gln673Leu,ENST00000361462,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000355081,;KLHL28,upstream_gene_variant,,ENST00000579157,;KLHL28,upstream_gene_variant,,ENST00000557468,;KLHL28,upstream_gene_variant,,ENST00000556500,;KLHL28,upstream_gene_variant,,ENST00000396128,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,missense_variant,p.Gln673Leu,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;	2232	44	28	SUCCESS
PPP2R5E	5529	.	GRCh37	14	63860613	63860613	+	synonymous_variant	Silent	SNP	T	T	C	rs773128001	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	76	0	ENST00000337537.3:c.774A>G	p.Ala258=	p.A258=	ENST00000337537	NM_006246.2	258	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9758.1	774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTGCCTT	NONE	.	.	hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF5,Gene3D:1.25.10.10,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000337641	.	8/14	.	.	.	.	.	.	.	.	rs773128001	8/14	PASS	ENST00000337537	Transcript	.	.	ENSG00000154001	9313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2A5E_HUMAN	PPP2R5E	HGNC	J3KQN6_HUMAN	.	UPI0000124E94	SNV	PPP2R5E,synonymous_variant,p.%3D,ENST00000337537,;PPP2R5E,synonymous_variant,p.%3D,ENST00000422769,;PPP2R5E,synonymous_variant,p.%3D,ENST00000555899,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000553266,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556150,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556484,;	1377	76	69	SUCCESS
FAM161B	145483	.	GRCh37	14	74411141	74411141	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	66	0	ENST00000286544.3:c.1011G>C	p.Gln337His	p.Q337H	ENST00000286544	NM_152445.2	337	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS9822.2	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCTGTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21501:SF4,hmmpanther:PTHR21501,Pfam_domain:PF10595	.	.	ENSP00000286544	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000286544	Transcript	.	.	ENSG00000156050	19854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	deleterious(0.03)	.	F161B_HUMAN	FAM161B	HGNC	.	.	UPI000206535E	SNV	FAM161B,missense_variant,p.Gln337His,ENST00000286544,;FAM161B,missense_variant,p.Gln274His,ENST00000534936,;	1210	66	54	SUCCESS
BDKRB2	624	.	GRCh37	14	96707630	96707630	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	101	0	ENST00000554311.1:c.965A>G	p.Tyr322Cys	p.Y322C	ENST00000554311		322	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9942.1	965	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTACAGCA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24228:SF25,hmmpanther:PTHR24228,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000307713	.	3/3	.	.	.	.	.	.	.	.	COSM364367	3/3	PASS	ENST00000306005	Transcript	.	.	ENSG00000168398	1030	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.272)	.	deleterious(0.03)	1	BKRB2_HUMAN	BDKRB2	HGNC	.	.	UPI00000503EB	SNV	BDKRB2,missense_variant,p.Tyr322Cys,ENST00000554311,;BDKRB2,missense_variant,p.Tyr295Cys,ENST00000542454,;BDKRB2,missense_variant,p.Tyr322Cys,ENST00000306005,;BDKRB2,missense_variant,p.Tyr295Cys,ENST00000539359,;RP11-404P21.8,intron_variant,,ENST00000553811,;RP11-404P21.8,upstream_gene_variant,,ENST00000555847,;	1161	101	57	SUCCESS
MEF2A	4205	.	GRCh37	15	100214726	100214726	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	112	0	ENST00000354410.5:c.525A>G	p.Thr175=	p.T175=	ENST00000354410	NM_005587.2	175	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS45362.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACAGATTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11945:SF145,hmmpanther:PTHR11945	.	.	ENSP00000346389	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000354410	Transcript	1	.	ENSG00000068305	6993	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEF2A_HUMAN	MEF2A	HGNC	H0YNI2_HUMAN,H0YM62_HUMAN,H0YKY6_HUMAN,D6RJ95_HUMAN	.	UPI0000073025	SNV	MEF2A,synonymous_variant,p.%3D,ENST00000449277,;MEF2A,synonymous_variant,p.%3D,ENST00000338042,;MEF2A,synonymous_variant,p.%3D,ENST00000558812,;MEF2A,synonymous_variant,p.%3D,ENST00000453228,;MEF2A,synonymous_variant,p.%3D,ENST00000557785,;MEF2A,synonymous_variant,p.%3D,ENST00000354410,;MEF2A,synonymous_variant,p.%3D,ENST00000557942,;MEF2A,downstream_gene_variant,,ENST00000558983,;	1154	112	83	SUCCESS
LRRK1	79705	.	GRCh37	15	101562141	101562141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	72	0	ENST00000388948.3:c.1831C>A	p.Pro611Thr	p.P611T	ENST00000388948	NM_024652.3	611	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS42086.1	1831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCCTGCA	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF239,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000373600	.	14/34	.	.	.	.	.	.	.	.	.	14/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Pro611Thr,ENST00000388948,;LRRK1,missense_variant,p.Pro608Thr,ENST00000284395,;LRRK1,missense_variant,p.Pro611Thr,ENST00000531270,;LRRK1,missense_variant,p.Pro611Thr,ENST00000525284,;LRRK1,non_coding_transcript_exon_variant,,ENST00000525617,;LRRK1,upstream_gene_variant,,ENST00000538064,;	2190	72	34	SUCCESS
OR4F6	390648	.	GRCh37	15	102346471	102346471	+	synonymous_variant	Silent	SNP	A	A	G	rs1423600033	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	33	76	0	ENST00000328882.4:c.549A>G	p.Arg183=	p.R183=	ENST00000328882	NM_001005326.1	183	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS32341.1	549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGATTTAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF199,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000327525	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328882	Transcript	.	.	ENSG00000184140	15372	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4F6_HUMAN	OR4F6	HGNC	.	.	UPI0000041BF4	SNV	OR4F6,synonymous_variant,p.%3D,ENST00000328882,;	570	77	70	SUCCESS
HERC2P3	283755	.	GRCh37	15	20644343	20644343	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	rs556053098	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	47	0	ENST00000428453.1:n.3221A>C		p.*1074*	ENST00000428453				0	.	C:0	.	C:0	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTGCGGG	NONE	byFrequency|by1000G	.	.	C:0.003	.	.	C:0	22/27	.	.	.	.	.	.	.	.	rs556053098	22/27	PASS	ENST00000428453	Transcript	.	C:0.0006	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000436934,;HERC2P3,downstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,downstream_gene_variant,,ENST00000545640,;	3221	47	27	SUCCESS
OTUD7A	161725	.	GRCh37	15	31776404	31776404	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	20	0	ENST00000307050.4:c.1874T>G	p.Leu625Arg	p.L625R	ENST00000307050	NM_130901.1	625	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS10026.1	1874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCAGGATG	NONE	.	.	hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367	.	.	ENSP00000305926	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000307050	Transcript	.	.	ENSG00000169918	20718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	OTU7A_HUMAN	OTUD7A	HGNC	H0YN66_HUMAN	.	UPI0000073AA5	SNV	OTUD7A,missense_variant,p.Leu632Arg,ENST00000382902,;OTUD7A,missense_variant,p.Leu625Arg,ENST00000307050,;	1967	20	18	SUCCESS
PLA2G4D	283748	.	GRCh37	15	42362276	42362276	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	21	0	ENST00000290472.3:c.2061G>T	p.Glu687Asp	p.E687D	ENST00000290472	NM_178034.3	687	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS32203.1	2061	MUTECT|MUSE	.	TACAGCTCCGT	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF25,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000290472	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000290472	Transcript	.	.	ENSG00000159337	30038	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.098)	.	tolerated(1)	.	PA24D_HUMAN	PLA2G4D	HGNC	.	.	UPI00001FE2F2	SNV	PLA2G4D,missense_variant,p.Glu687Asp,ENST00000290472,;PLA2G4D,non_coding_transcript_exon_variant,,ENST00000560932,;	2156	21	14	SUCCESS
CEP152	22995	.	GRCh37	15	49033896	49033896	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	52	0	ENST00000380950.2:c.3995A>T	p.Glu1332Val	p.E1332V	ENST00000380950	NM_001194998.1	1332	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS58361.1	3995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTCAGCC	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6	.	.	ENSP00000370337	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,missense_variant,p.Glu1332Val,ENST00000380950,;CEP152,missense_variant,p.Glu1239Val,ENST00000325747,;CEP152,missense_variant,p.Glu1276Val,ENST00000399334,;CEP152,missense_variant,p.Glu25Val,ENST00000561245,;	4183	52	43	SUCCESS
HERC1	8925	.	GRCh37	15	63970246	63970246	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762640357	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	79	0	ENST00000443617.2:c.6868G>T	p.Asp2290Tyr	p.D2290Y	ENST00000443617	NM_003922.3	2290	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS45277.1	6868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCAGCGA	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	37/78	.	.	.	.	.	.	.	.	rs762640357,COSM3420513,COSM3420512	37/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.153)	.	.	0,1,1	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Asp2290Tyr,ENST00000443617,;HERC1,upstream_gene_variant,,ENST00000559715,;RP11-317G6.1,splice_region_variant,,ENST00000559303,;	6956	79	62	SUCCESS
HERC1	8925	.	GRCh37	15	63986548	63986548	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	114	0	ENST00000443617.2:c.5443A>T	p.Ser1815Cys	p.S1815C	ENST00000443617	NM_003922.3	1815	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS45277.1	5443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACTGGCCA	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	29/78	.	.	.	.	.	.	.	.	.	29/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Ser1815Cys,ENST00000443617,;HERC1,downstream_gene_variant,,ENST00000561400,;RP11-317G6.1,intron_variant,,ENST00000559303,;	5531	114	61	SUCCESS
ZWILCH	55055	.	GRCh37	15	66797768	66797768	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	22	0	ENST00000307897.5:c.53+39A>T		p.*18*	ENST00000307897	NM_017975.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10218.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACAGCACT	NONE	.	547	.	.	.	ENSP00000311430	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307961	Transcript	.	.	ENSG00000174444	10353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL4_HUMAN	RPL4	HGNC	H3BM89_HUMAN	.	UPI00001340F1	SNV	RPL4,5_prime_UTR_variant,,ENST00000568588,;ZWILCH,intron_variant,,ENST00000307897,;ZWILCH,intron_variant,,ENST00000565627,;ZWILCH,intron_variant,,ENST00000564179,;ZWILCH,intron_variant,,ENST00000535141,;ZWILCH,intron_variant,,ENST00000446801,;RPL4,upstream_gene_variant,,ENST00000569438,;RPL4,upstream_gene_variant,,ENST00000307961,;RPL4,upstream_gene_variant,,ENST00000569696,;SNORD16,upstream_gene_variant,,ENST00000362803,;SNORD18A,upstream_gene_variant,,ENST00000363753,;SNORD18C,upstream_gene_variant,,ENST00000362704,;SNORD18B,upstream_gene_variant,,ENST00000365659,;RPL4,non_coding_transcript_exon_variant,,ENST00000564517,;ZWILCH,intron_variant,,ENST00000565960,;ZWILCH,intron_variant,,ENST00000564309,;RPL4,upstream_gene_variant,,ENST00000563473,;ZWILCH,intron_variant,,ENST00000563698,;ZWILCH,intron_variant,,ENST00000567926,;RPL4,upstream_gene_variant,,ENST00000567229,;RPL4,upstream_gene_variant,,ENST00000564744,;RPL4,upstream_gene_variant,,ENST00000566624,;RPL4,upstream_gene_variant,,ENST00000561554,;RPL4,upstream_gene_variant,,ENST00000566622,;RPL4,upstream_gene_variant,,ENST00000566039,;RPL4,upstream_gene_variant,,ENST00000564439,;RPL4,upstream_gene_variant,,ENST00000564647,;RPL4,upstream_gene_variant,,ENST00000561775,;RPL4,upstream_gene_variant,,ENST00000566491,;	.	22	15	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79059245	79059245	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	79	0	ENST00000388820.4:c.3008C>A	p.Pro1003His	p.P1003H	ENST00000388820	NM_014272.3	1003	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS32303.1	3008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGGGCCC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142	.	.	ENSP00000373472	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.664)	.	tolerated(0.07)	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,missense_variant,p.Pro1003His,ENST00000388820,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,upstream_gene_variant,,ENST00000569934,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;	3219	79	51	SUCCESS
ADAMTSL3	57188	.	GRCh37	15	84568428	84568428	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	60	212	0	ENST00000286744.5:c.1645T>A	p.Trp549Arg	p.W549R	ENST00000286744	NM_207517.2	549	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS10326.1	1645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTTGGCTG	NONE	.	.	hmmpanther:PTHR13723:SF169,hmmpanther:PTHR13723	.	.	ENSP00000286744	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000286744	Transcript	.	.	ENSG00000156218	14633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ATL3_HUMAN	ADAMTSL3	HGNC	.	.	UPI00001615A5	SNV	ADAMTSL3,missense_variant,p.Trp549Arg,ENST00000286744,;ADAMTSL3,missense_variant,p.Trp549Arg,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	1869	212	161	SUCCESS
SLC28A1	9154	.	GRCh37	15	85438721	85438721	+	intron_variant	Intron	SNP	T	T	A	rs374753108	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	84	0	ENST00000286749.3:c.461+367T>A		p.*154*	ENST00000286749	NM_001287762.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10334.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTCGATC	NONE	.	.	.	.	.	ENSP00000378074	.	.	.	.	.	.	.	.	.	.	rs374753108	.	PASS	ENST00000394573	Transcript	.	.	ENSG00000156222	11001	.	.	MODIFIER	6/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S28A1_HUMAN	SLC28A1	HGNC	.	.	UPI000013DE67	SNV	SLC28A1,3_prime_UTR_variant,,ENST00000338602,;SLC28A1,intron_variant,,ENST00000537703,;SLC28A1,intron_variant,,ENST00000394573,;SLC28A1,intron_variant,,ENST00000538177,;SLC28A1,intron_variant,,ENST00000537624,;SLC28A1,intron_variant,,ENST00000537216,;SLC28A1,intron_variant,,ENST00000286749,;	.	84	50	SUCCESS
PRC1	9055	.	GRCh37	15	91522459	91522460	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	73	0	ENST00000394249.3:c.1035dup	p.Glu346Ter	p.E346*	ENST00000394249	NM_003981.3	345	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS32334.1	1035-1036	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTTCATAGT	NONE	.	.	Pfam_domain:PF03999,hmmpanther:PTHR19321:SF1,hmmpanther:PTHR19321	.	.	ENSP00000377793	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000394249	Transcript	.	.	ENSG00000198901	9341	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRC1_HUMAN	PRC1	HGNC	.	.	UPI00001A5ED8	insertion	PRC1,frameshift_variant,p.Glu346Ter,ENST00000361188,;PRC1,frameshift_variant,p.Glu346Ter,ENST00000361919,;PRC1,frameshift_variant,p.Glu38Ter,ENST00000559828,;PRC1,frameshift_variant,p.Glu305Ter,ENST00000442656,;PRC1,frameshift_variant,p.Glu346Ter,ENST00000394249,;PRC1,downstream_gene_variant,,ENST00000557905,;PRC1,downstream_gene_variant,,ENST00000559811,;PRC1,upstream_gene_variant,,ENST00000555455,;PRC1-AS1,intron_variant,,ENST00000554388,;Y_RNA,upstream_gene_variant,,ENST00000363272,;PRC1,downstream_gene_variant,,ENST00000556129,;PRC1,downstream_gene_variant,,ENST00000555745,;PRC1,non_coding_transcript_exon_variant,,ENST00000560914,;PRC1,non_coding_transcript_exon_variant,,ENST00000556982,;PRC1,downstream_gene_variant,,ENST00000417173,;PRC1,upstream_gene_variant,,ENST00000559326,;PRC1,downstream_gene_variant,,ENST00000553494,;PRC1,downstream_gene_variant,,ENST00000555791,;PRC1,downstream_gene_variant,,ENST00000560605,;PRC1,downstream_gene_variant,,ENST00000557763,;	1113-1114	73	47	SUCCESS
IGSF6	10261	.	GRCh37	16	21654919	21654919	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	12	53	0	ENST00000268389.4:c.535T>A	p.Ser179Thr	p.S179T	ENST00000268389	NM_005849.3	179	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS10599.1	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGACTGCC	NONE	.	.	hmmpanther:PTHR15297:SF2,hmmpanther:PTHR15297	.	.	ENSP00000268389	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000268389	Transcript	.	.	ENSG00000140749	5953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	tolerated(0.06)	.	IGSF6_HUMAN	IGSF6	HGNC	.	.	UPI000013D7B4	SNV	IGSF6,missense_variant,p.Ser179Thr,ENST00000268389,;METTL9,intron_variant,,ENST00000396014,;METTL9,intron_variant,,ENST00000567404,;METTL9,intron_variant,,ENST00000358154,;METTL9,intron_variant,,ENST00000568826,;IGSF6,downstream_gene_variant,,ENST00000569602,;RNU6-196P,downstream_gene_variant,,ENST00000384315,;RNU6-1005P,downstream_gene_variant,,ENST00000384519,;IGSF6,downstream_gene_variant,,ENST00000565499,;	597	53	66	SUCCESS
CASKIN1	57524	.	GRCh37	16	2239124	2239124	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747089821	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	45	0	ENST00000343516.6:c.521C>T	p.Ala174Val	p.A174V	ENST00000343516	NM_020764.3	174	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS42103.1	521	MUTECT|MUSE	.	GCGCCGCACAC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24177:SF12,hmmpanther:PTHR24177,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000345436	.	6/20	.	.	.	.	.	.	.	.	rs747089821,COSM3278806,COSM3278807	6/20	PASS	ENST00000343516	Transcript	.	.	ENSG00000167971	20879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	possibly_damaging(0.869)	.	.	0,1,1	CSKI1_HUMAN	CASKIN1	HGNC	D3DU87_HUMAN	.	UPI0000073A3B	SNV	CASKIN1,missense_variant,p.Ala174Val,ENST00000343516,;CASKIN1,upstream_gene_variant,,ENST00000564289,;CASKIN1,non_coding_transcript_exon_variant,,ENST00000562055,;	614	45	42	SUCCESS
PRSS22	64063	.	GRCh37	16	2903200	2903200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	8	0	ENST00000161006.3:c.848C>A	p.Ser283Tyr	p.S283Y	ENST00000161006	NM_022119.3	283	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS10481.1	848	MUTECT|MUSE	.	CCCAGGAGCGG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24253:SF6,hmmpanther:PTHR24253,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000161006	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000161006	Transcript	.	.	ENSG00000005001	14368	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.914)	.	deleterious(0.02)	.	BSSP4_HUMAN	PRSS22	HGNC	.	.	UPI0000126AFA	SNV	PRSS22,missense_variant,p.Ser283Tyr,ENST00000161006,;PRSS22,missense_variant,p.Ser173Tyr,ENST00000571228,;LA16c-325D7.1,upstream_gene_variant,,ENST00000577140,;PRSS22,downstream_gene_variant,,ENST00000577177,;PRSS22,downstream_gene_variant,,ENST00000574768,;PRSS22,non_coding_transcript_exon_variant,,ENST00000575164,;PRSS22,downstream_gene_variant,,ENST00000572061,;PRSS22,downstream_gene_variant,,ENST00000570950,;PRSS22,downstream_gene_variant,,ENST00000576381,;	914	8	8	SUCCESS
FUS	2521	.	GRCh37	16	31194105	31194105	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	17	0	ENST00000254108.7:c.190+120T>C		p.*64*	ENST00000254108	NM_004960.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10707.1	.	MUTECT|MUSE	.	CTGTCTCAGCT	NONE	.	.	.	.	.	ENSP00000254108	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254108	Transcript	.	.	ENSG00000089280	4010	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUS_HUMAN	FUS	HGNC	Q6IBQ5_HUMAN	.	UPI000012AD9A	SNV	FUS,intron_variant,,ENST00000380244,;FUS,intron_variant,,ENST00000254108,;FUS,intron_variant,,ENST00000568685,;RP11-388M20.6,non_coding_transcript_exon_variant,,ENST00000564743,;FUS,upstream_gene_variant,,ENST00000474990,;FUS,non_coding_transcript_exon_variant,,ENST00000487045,;FUS,intron_variant,,ENST00000566605,;FUS,intron_variant,,ENST00000487509,;FUS,upstream_gene_variant,,ENST00000570090,;FUS,upstream_gene_variant,,ENST00000487974,;	.	17	25	SUCCESS
MEFV	4210	.	GRCh37	16	3304779	3304779	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs747515115	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	26	0	ENST00000219596.1:c.289C>G	p.Gln97Glu	p.Q97E	ENST00000219596	NM_000243.2	97	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS10498.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGTGTGG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000219596	.	2/10	.	.	.	.	.	.	.	.	rs747515115	2/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.19)	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,missense_variant,p.Gln97Glu,ENST00000219596,;MEFV,intron_variant,,ENST00000536379,;MEFV,intron_variant,,ENST00000339854,;MEFV,intron_variant,,ENST00000541159,;MEFV,missense_variant,p.Gln97Glu,ENST00000538326,;MEFV,missense_variant,p.Gln97Glu,ENST00000570511,;MEFV,missense_variant,p.Gln97Glu,ENST00000542898,;MEFV,missense_variant,p.Gln97Glu,ENST00000537682,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000536980,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;MEFV,intron_variant,,ENST00000539145,;	329	26	33	SUCCESS
SEC14L5	9717	.	GRCh37	16	5050737	5050737	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	61	0	ENST00000251170.7:c.1052T>A	p.Leu351Gln	p.L351Q	ENST00000251170	NM_014692.1	351	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS45403.1	1052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGCGGC	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF39,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000251170	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000251170	Transcript	.	.	ENSG00000103184	29032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	S14L5_HUMAN	SEC14L5	HGNC	K7ERV2_HUMAN	.	UPI00001C1FA3	SNV	SEC14L5,missense_variant,p.Leu351Gln,ENST00000251170,;	1232	61	52	SUCCESS
CES5A	221223	.	GRCh37	16	55897346	55897346	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1326970851	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	94	0	ENST00000290567.9:c.724A>T	p.Lys242Ter	p.K242*	ENST00000290567	NM_001143685.1	242	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS54012.1	811	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTTGGCCA	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF43,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000428864	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000521992	Transcript	.	.	ENSG00000159398	26459	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EST5A_HUMAN	CES5A	HGNC	I3NI11_HUMAN,F5H0J7_HUMAN	.	UPI0001914B41	SNV	CES5A,stop_gained,p.Lys212Ter,ENST00000520435,;CES5A,stop_gained,p.Lys136Ter,ENST00000518005,;CES5A,stop_gained,p.Lys242Ter,ENST00000319165,;CES5A,stop_gained,p.Lys271Ter,ENST00000521992,;CES5A,stop_gained,p.Lys242Ter,ENST00000290567,;CES5A,non_coding_transcript_exon_variant,,ENST00000541580,;CES5A,3_prime_UTR_variant,,ENST00000521228,;CES5A,3_prime_UTR_variant,,ENST00000544479,;	957	94	111	SUCCESS
AMFR	267	.	GRCh37	16	56435757	56435757	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	40	0	ENST00000290649.5:c.975-2A>T		p.X325_splice	ENST00000290649	NM_001144.5	325		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10758.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCTGTGGA	NONE	.	.	.	.	.	ENSP00000290649	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290649	Transcript	.	.	ENSG00000159461	463	.	.	HIGH	7/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMFR_HUMAN	AMFR	HGNC	Q6PGR1_HUMAN,Q1RN03_HUMAN,H3BSK3_HUMAN,H3BQM3_HUMAN	.	UPI000013EDCA	SNV	AMFR,splice_acceptor_variant,,ENST00000567738,;AMFR,splice_acceptor_variant,,ENST00000290649,;AMFR,splice_acceptor_variant,,ENST00000492830,;AMFR,downstream_gene_variant,,ENST00000565445,;AMFR,downstream_gene_variant,,ENST00000563664,;AMFR,upstream_gene_variant,,ENST00000568762,;	.	40	38	SUCCESS
KCTD19	146212	.	GRCh37	16	67360630	67360630	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	17	0	ENST00000304372.5:c.-20C>T		p.*7*	ENST00000304372	NM_001100915.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42179.1	.	RADIA|MUSE	.	CAGCGGGCGGG	NONE	.	.	.	.	.	ENSP00000305702	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000304372	Transcript	.	.	ENSG00000168676	24753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCD19_HUMAN	KCTD19	HGNC	J3KSZ9_HUMAN,H3BVC0_HUMAN	.	UPI00001D7875	SNV	KCTD19,5_prime_UTR_variant,,ENST00000304372,;KCTD19,upstream_gene_variant,,ENST00000566295,;LRRC36,upstream_gene_variant,,ENST00000568804,;KCTD19,upstream_gene_variant,,ENST00000567976,;LRRC36,upstream_gene_variant,,ENST00000569499,;LRRC36,upstream_gene_variant,,ENST00000329956,;LRRC36,upstream_gene_variant,,ENST00000561948,;RN7SKP118,upstream_gene_variant,,ENST00000364331,;KCTD19,non_coding_transcript_exon_variant,,ENST00000561625,;LRRC36,upstream_gene_variant,,ENST00000566558,;LRRC36,upstream_gene_variant,,ENST00000563303,;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,;KCTD19,non_coding_transcript_exon_variant,,ENST00000568736,;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,;KCTD19,upstream_gene_variant,,ENST00000570049,;LRRC36,upstream_gene_variant,,ENST00000569228,;LRRC36,upstream_gene_variant,,ENST00000570075,;LRRC36,upstream_gene_variant,,ENST00000565019,;KCTD19,upstream_gene_variant,,ENST00000562721,;	37	17	27	SUCCESS
ZFHX3	463	.	GRCh37	16	72993128	72993128	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142256050	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	33	168	0	ENST00000268489.5:c.917G>A	p.Arg306Gln	p.R306Q	ENST00000268489	NM_006885.3	306	cGa/cAa	0	T:0	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS10908.1	917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTCGATGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208	T:0	T:0.0003	ENSP00000268489	T:0.001	2/10	.	.	.	.	.	.	.	.	rs142256050	2/10	PASS	ENST00000268489	Transcript	.	T:0.0002	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	T:0	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Arg306Gln,ENST00000268489,;ZFHX3,intron_variant,,ENST00000397992,;	1590	168	144	SUCCESS
CMIP	80790	.	GRCh37	16	81691394	81691394	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	122	0	ENST00000537098.3:c.654C>A	p.Thr218=	p.T218=	ENST00000537098	NM_198390.2	218	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54044.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACCACCCA	NONE	.	.	Gene3D:3.80.10.10	.	.	ENSP00000446100	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000537098	Transcript	.	.	ENSG00000153815	24319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMIP_HUMAN	CMIP	HGNC	.	.	UPI00001FFCBD	SNV	CMIP,synonymous_variant,p.%3D,ENST00000398040,;CMIP,synonymous_variant,p.%3D,ENST00000537098,;CMIP,synonymous_variant,p.%3D,ENST00000539778,;CMIP,non_coding_transcript_exon_variant,,ENST00000566462,;CMIP,non_coding_transcript_exon_variant,,ENST00000566513,;	726	122	107	SUCCESS
GSE1	23199	.	GRCh37	16	85667714	85667714	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746071025	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	20	0	ENST00000253458.7:c.202G>A	p.Ala68Thr	p.A68T	ENST00000253458	NM_014615.3	68	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10952.1	202	MUTECT|MUSE	.	AGCTCGCCAAA	NONE	byFrequency	.	hmmpanther:PTHR17608:SF3,hmmpanther:PTHR17608	.	.	ENSP00000253458	.	2/16	.	.	.	.	.	.	.	.	rs746071025	2/16	PASS	ENST00000253458	Transcript	.	.	ENSG00000131149	28979	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	GSE1_HUMAN	GSE1	HGNC	C9JLW9_HUMAN	.	UPI0000185F04	SNV	GSE1,missense_variant,p.Ala68Thr,ENST00000253458,;GSE1,intron_variant,,ENST00000411612,;GSE1,intron_variant,,ENST00000405402,;GSE1,intron_variant,,ENST00000393243,;	378	20	17	SUCCESS
FBXW10	10517	.	GRCh37	17	18653121	18653121	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	296	14	306	0	ENST00000395665.4:c.757G>A	p.Asp253Asn	p.D253N	ENST00000395665		253	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS11199.3	757	MUTECT|MUSE	.	GGTACGATCCC	NONE	.	.	hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872	.	.	ENSP00000379025	.	3/14	.	.	.	.	.	.	.	.	COSM3514963,COSM3514964	3/14	PASS	ENST00000395665	Transcript	.	.	ENSG00000171931	1211	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.009)	.	tolerated(0.49)	1,1	FBW10_HUMAN	FBXW10	HGNC	.	.	UPI0000200B30	SNV	FBXW10,missense_variant,p.Asp253Asn,ENST00000301938,;FBXW10,missense_variant,p.Asp253Asn,ENST00000308799,;FBXW10,missense_variant,p.Asp253Asn,ENST00000395667,;FBXW10,missense_variant,p.Asp253Asn,ENST00000395665,;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	978	306	311	SUCCESS
ULK2	9706	.	GRCh37	17	19741841	19741841	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	76	170	0	ENST00000361658.2:c.760A>G	p.Arg254Gly	p.R254G	ENST00000361658	NM_001142610.1	254	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS11213.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTCTGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000580,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000378914	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000395544	Transcript	.	.	ENSG00000083290	13480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	deleterious(0)	.	ULK2_HUMAN	ULK2	HGNC	.	.	UPI000013D19B	SNV	ULK2,missense_variant,p.Arg254Gly,ENST00000395544,;ULK2,missense_variant,p.Arg254Gly,ENST00000361658,;ULK2,non_coding_transcript_exon_variant,,ENST00000571177,;ULK2,upstream_gene_variant,,ENST00000580130,;ULK2,downstream_gene_variant,,ENST00000574732,;ULK2,downstream_gene_variant,,ENST00000580118,;AC015726.1,upstream_gene_variant,,ENST00000418418,;	1260	170	158	SUCCESS
NOS2	4843	.	GRCh37	17	26089920	26089920	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	55	0	ENST00000313735.6:c.2704A>T	p.Ile902Phe	p.I902F	ENST00000313735	NM_000625.4	902	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS11223.1	2704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATGGGGA	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Pfam_domain:PF00667,Gene3D:1.20.990.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380	.	.	ENSP00000327251	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.08)	.	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,missense_variant,p.Ile902Phe,ENST00000313735,;	2938	55	52	SUCCESS
VTN	7448	.	GRCh37	17	26695961	26695961	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	56	124	0	ENST00000226218.4:c.758A>T	p.Asn253Ile	p.N253I	ENST00000226218	NM_000638.3	253	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS11229.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGTTGTCC	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR22917:SF3,hmmpanther:PTHR22917,Gene3D:2.110.10.10,Superfamily_domains:SSF50923	.	.	ENSP00000226218	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000226218	Transcript	.	.	ENSG00000109072	12724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	VTNC_HUMAN	VTN	HGNC	F5GX75_HUMAN,D9ZGG2_HUMAN	.	UPI0000138E65	SNV	VTN,missense_variant,p.Asn253Ile,ENST00000226218,;VTN,5_prime_UTR_variant,,ENST00000536498,;TMEM199,intron_variant,,ENST00000509083,;SARM1,upstream_gene_variant,,ENST00000457710,;VTN,upstream_gene_variant,,ENST00000438614,;VTN,downstream_gene_variant,,ENST00000542029,;CTB-96E2.2,upstream_gene_variant,,ENST00000555059,;VTN,upstream_gene_variant,,ENST00000431468,;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;VTN,upstream_gene_variant,,ENST00000539746,;	1377	124	119	SUCCESS
SUPT6H	6830	.	GRCh37	17	27017150	27017150	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	92	198	0	ENST00000314616.6:c.3393C>T	p.Ser1131=	p.S1131=	ENST00000314616	NM_003170.3	1131	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32596.1	3393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCTGTCG	NONE	.	.	Superfamily_domains:SSF47781,PIRSF_domain:PIRSF036947,Gene3D:3bzcA04,Pfam_domain:PF14878,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145	.	.	ENSP00000319104	.	26/37	.	.	.	.	.	.	.	.	.	26/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,synonymous_variant,p.%3D,ENST00000314616,;SUPT6H,synonymous_variant,p.%3D,ENST00000347486,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000583972,;SUPT6H,downstream_gene_variant,,ENST00000585230,;SUPT6H,upstream_gene_variant,,ENST00000580471,;SUPT6H,downstream_gene_variant,,ENST00000581908,;	3676	198	194	SUCCESS
TAOK1	57551	.	GRCh37	17	27829620	27829620	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	74	0	ENST00000261716.3:c.1217A>G	p.Tyr406Cys	p.Y406C	ENST00000261716	NM_020791.2	406	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32601.1	1217	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTACAGAG	NONE	.	.	hmmpanther:PTHR24361:SF189,hmmpanther:PTHR24361	.	.	ENSP00000261716	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000261716	Transcript	.	.	ENSG00000160551	29259	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.16)	.	TAOK1_HUMAN	TAOK1	HGNC	J3QS76_HUMAN	.	UPI000004A033	SNV	TAOK1,missense_variant,p.Tyr406Cys,ENST00000261716,;TAOK1,missense_variant,p.Tyr406Cys,ENST00000536202,;TAOK1,non_coding_transcript_exon_variant,,ENST00000577583,;	1736	74	74	SUCCESS
NF1	4763	.	GRCh37	17	29554603	29554603	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	17	115	0	ENST00000358273.4:c.2388A>C	p.Lys796Asn	p.K796N	ENST00000358273	NM_001042492.2	796	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS42292.1	2388	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAAGCCAA	NONE	.	.	hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	20/58	.	.	.	.	.	.	.	.	.	20/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	tolerated(0.1)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Lys462Asn,ENST00000456735,;NF1,missense_variant,p.Lys796Asn,ENST00000358273,;NF1,missense_variant,p.Lys796Asn,ENST00000356175,;NF1,downstream_gene_variant,,ENST00000431387,;NF1,missense_variant,p.Lys830Asn,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	2771	115	133	SUCCESS
OR3A1	4994	.	GRCh37	17	3195335	3195335	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	57	163	0	ENST00000323404.1:c.542A>G	p.Tyr181Cys	p.Y181C	ENST00000323404	NM_002550.2	181	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11023.1	542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTAGAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF90,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000313803	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323404	Transcript	.	.	ENSG00000180090	8282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0.02)	.	OR3A1_HUMAN	OR3A1	HGNC	.	.	UPI00001410CA	SNV	OR3A1,missense_variant,p.Tyr181Cys,ENST00000323404,;RP11-64J4.2,intron_variant,,ENST00000573901,;RP11-64J4.2,intron_variant,,ENST00000576166,;RP11-64J4.2,intron_variant,,ENST00000573491,;	542	163	70	SUCCESS
AP2B1	163	.	GRCh37	17	33921086	33921086	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	235	56	314	0	ENST00000312678.8:c.37G>T	p.Gly13Ter	p.G13*	ENST00000312678	NM_001030006.1	13	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS32621.1	37	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGGTAAG	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371	.	.	ENSP00000314414	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,stop_gained,p.Gly13Ter,ENST00000589344,;AP2B1,stop_gained,p.Gly13Ter,ENST00000589774,;AP2B1,stop_gained,p.Gly13Ter,ENST00000262325,;AP2B1,stop_gained,p.Gly13Ter,ENST00000312678,;AP2B1,stop_gained,p.Gly13Ter,ENST00000593014,;AP2B1,stop_gained,p.Gly13Ter,ENST00000592545,;AP2B1,stop_gained,p.Gly13Ter,ENST00000590432,;AP2B1,stop_gained,p.Gly13Ter,ENST00000537622,;AP2B1,splice_region_variant,,ENST00000538556,;AP2B1,splice_region_variant,,ENST00000588093,;AP2B1,stop_gained,p.Gly13Ter,ENST00000590538,;AP2B1,stop_gained,p.Gly13Ter,ENST00000591610,;AP2B1,stop_gained,p.Gly13Ter,ENST00000592167,;AP2B1,stop_gained,p.Gly13Ter,ENST00000592191,;CTC-507E2.2,downstream_gene_variant,,ENST00000587835,;	167	314	291	SUCCESS
KRT19	3880	.	GRCh37	17	39684180	39684180	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	76	0	ENST00000361566.3:c.320A>G	p.Glu107Gly	p.E107G	ENST00000361566	NM_002276.4	107	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS11399.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCTCGCCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF107,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000355124	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000361566	Transcript	.	.	ENSG00000171345	6436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.06)	.	K1C19_HUMAN	KRT19	HGNC	K7EMS3_HUMAN	.	UPI000006D379	SNV	KRT19,missense_variant,p.Glu107Gly,ENST00000361566,;KRT19,missense_variant,p.Glu107Gly,ENST00000455635,;KRT19,upstream_gene_variant,,ENST00000593096,;KRT19,upstream_gene_variant,,ENST00000479031,;KRT19,upstream_gene_variant,,ENST00000462611,;KRT19,upstream_gene_variant,,ENST00000471565,;KRT19,upstream_gene_variant,,ENST00000468880,;	381	76	82	SUCCESS
DHX8	1659	.	GRCh37	17	41582013	41582013	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs145241921	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	78	0	ENST00000262415.3:c.1548G>A		p.X516_splice	ENST00000262415	NM_004941.1	516	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS11464.1	1548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGGAAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18934:SF85,hmmpanther:PTHR18934	.	A:0.0005	ENSP00000262415	.	12/23	.	.	.	.	.	.	.	.	rs145241921	12/23	PASS	ENST00000262415	Transcript	.	.	ENSG00000067596	2749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX8_HUMAN	DHX8	HGNC	.	.	UPI00001290D9	SNV	DHX8,synonymous_variant,p.%3D,ENST00000540306,;DHX8,synonymous_variant,p.%3D,ENST00000262415,;DHX8,splice_region_variant,,ENST00000587044,;	1620	78	72	SUCCESS
EFTUD2	9343	.	GRCh37	17	42949889	42949889	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780542105	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	48	104	0	ENST00000426333.2:c.919G>A	p.Val307Ile	p.V307I	ENST00000426333	NM_001142605.1	307	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS11489.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACGTTAC	NONE	byFrequency	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF5,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540	.	.	ENSP00000392094	.	11/28	.	.	.	.	.	.	.	.	rs780542105	11/28	PASS	ENST00000426333	Transcript	.	.	ENSG00000108883	30858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious(0.03)	.	U5S1_HUMAN	EFTUD2	HGNC	K7EIV5_HUMAN,K7EIT3_HUMAN,B3KX19_HUMAN	.	UPI0000137931	SNV	EFTUD2,missense_variant,p.Val272Ile,ENST00000402521,;EFTUD2,missense_variant,p.Val307Ile,ENST00000591382,;EFTUD2,missense_variant,p.Val307Ile,ENST00000426333,;EFTUD2,missense_variant,p.Val297Ile,ENST00000592576,;EFTUD2,synonymous_variant,p.%3D,ENST00000591856,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,downstream_gene_variant,,ENST00000588374,;EFTUD2,downstream_gene_variant,,ENST00000593200,;EFTUD2,upstream_gene_variant,,ENST00000586654,;EFTUD2,downstream_gene_variant,,ENST00000587957,;	1217	104	111	SUCCESS
CRHR1	1394	.	GRCh37	17	43910820	43910820	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	rs1440365962	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	86	0	ENST00000398285.3:c.933C>A		p.X311_splice	ENST00000398285	NM_001145146.1	311	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS45712.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCAATTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00249,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF175,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	.	.	ENSP00000381333	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,synonymous_variant,p.%3D,ENST00000580876,;CRHR1,synonymous_variant,p.%3D,ENST00000398285,;CRHR1,synonymous_variant,p.%3D,ENST00000293493,;CRHR1,synonymous_variant,p.%3D,ENST00000339069,;CRHR1,synonymous_variant,p.%3D,ENST00000352855,;CRHR1,synonymous_variant,p.%3D,ENST00000577353,;CRHR1,synonymous_variant,p.%3D,ENST00000314537,;CRHR1,splice_region_variant,,ENST00000347197,;CRHR1,splice_region_variant,,ENST00000583888,;CRHR1,intron_variant,,ENST00000535778,;CRHR1,downstream_gene_variant,,ENST00000580955,;CRHR1,downstream_gene_variant,,ENST00000581479,;CRHR1,downstream_gene_variant,,ENST00000582766,;	933	86	73	SUCCESS
LPO	4025	.	GRCh37	17	56343575	56343575	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	83	0	ENST00000262290.4:c.1581del	p.Asn527LysfsTer3	p.N527Kfs*3	ENST00000262290	NM_006151.2	527	aaT/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS32689.1	1581	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGAATAAAAT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF53,hmmpanther:PTHR11475,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000262290	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000262290	Transcript	.	.	ENSG00000167419	6678	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PERL_HUMAN	LPO	HGNC	J3QSD8_HUMAN,F5H386_HUMAN	.	UPI0000131631	deletion	LPO,frameshift_variant,p.Asn444LysfsTer3,ENST00000421678,;LPO,frameshift_variant,p.Asn527LysfsTer3,ENST00000262290,;LPO,frameshift_variant,p.Asn468LysfsTer3,ENST00000543544,;LPO,frameshift_variant,p.Asn444LysfsTer3,ENST00000582328,;MPO,downstream_gene_variant,,ENST00000340482,;MPO,downstream_gene_variant,,ENST00000225275,;MPO,downstream_gene_variant,,ENST00000577220,;LPO,3_prime_UTR_variant,,ENST00000580890,;LPO,3_prime_UTR_variant,,ENST00000389576,;	1897	83	103	SUCCESS
MPO	4353	.	GRCh37	17	56349142	56349142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	70	0	ENST00000225275.3:c.1904G>T	p.Gly635Val	p.G635V	ENST00000225275	NM_000250.1	635	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11604.1	1904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCCATAC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000225275	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,missense_variant,p.Gly667Val,ENST00000340482,;MPO,missense_variant,p.Gly635Val,ENST00000225275,;MPO,intron_variant,,ENST00000577220,;LPO,downstream_gene_variant,,ENST00000421678,;LPO,downstream_gene_variant,,ENST00000262290,;LPO,downstream_gene_variant,,ENST00000543544,;LPO,downstream_gene_variant,,ENST00000582328,;MPO,downstream_gene_variant,,ENST00000578493,;LPO,downstream_gene_variant,,ENST00000580890,;LPO,downstream_gene_variant,,ENST00000389576,;	2081	70	66	SUCCESS
TEX14	56155	.	GRCh37	17	56663388	56663388	+	synonymous_variant	Silent	SNP	A	A	T	rs576022136	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	64	0	ENST00000240361.8:c.2862T>A	p.Pro954=	p.P954=	ENST00000240361		954	ccT/ccA	0	.	T:0.0015	.	T:0	.	T	P	protein_coding	YES	CCDS56042.1	2862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAGGAGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23060	T:0	.	ENSP00000240361	T:0	18/33	.	.	.	.	.	.	.	.	rs576022136	18/33	PASS	ENST00000240361	Transcript	.	T:0.0004	ENSG00000121101	11737	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,synonymous_variant,p.%3D,ENST00000349033,;TEX14,synonymous_variant,p.%3D,ENST00000389934,;TEX14,synonymous_variant,p.%3D,ENST00000240361,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	2948	64	68	SUCCESS
C17orf64	124773	.	GRCh37	17	58499939	58499939	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	101	0	ENST00000269127.4:c.-15G>A		p.*5*	ENST00000269127	NM_181707.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32698.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCGGCACA	NONE	.	.	.	.	.	ENSP00000269127	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000269127	Transcript	.	.	ENSG00000141371	26990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ064_HUMAN	C17orf64	HGNC	K7EQ24_HUMAN	.	UPI0000161125	SNV	C17orf64,5_prime_UTR_variant,,ENST00000269127,;C17orf64,intron_variant,,ENST00000474834,;C17orf64,intron_variant,,ENST00000461535,;USP32,upstream_gene_variant,,ENST00000588898,;USP32,upstream_gene_variant,,ENST00000590297,;C17orf64,non_coding_transcript_exon_variant,,ENST00000464714,;	70	101	104	SUCCESS
GH2	2689	.	GRCh37	17	61958465	61958465	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	60	0	ENST00000423893.2:c.215A>C	p.Gln72Pro	p.Q72P	ENST00000423893		72	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS11648.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTGCAGG	NONE	.	.	hmmpanther:PTHR11417:SF38,hmmpanther:PTHR11417,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266	.	.	ENSP00000333157	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000332800	Transcript	.	.	ENSG00000136487	4262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0.03)	.	SOM2_HUMAN	GH2	HGNC	.	.	UPI000002B3EF	SNV	GH2,splice_acceptor_variant,,ENST00000449787,;GH2,missense_variant,p.Gln72Pro,ENST00000332800,;GH2,missense_variant,p.Gln72Pro,ENST00000456543,;GH2,missense_variant,p.Gln72Pro,ENST00000423893,;RP11-630H24.3,upstream_gene_variant,,ENST00000561102,;	349	60	62	SUCCESS
SDK2	54549	.	GRCh37	17	71348683	71348683	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	59	0	ENST00000392650.3:c.5687A>C	p.Tyr1896Ser	p.Y1896S	ENST00000392650	NM_001144952.1	1896	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS45769.1	5687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCATAGCTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376421	.	41/45	.	.	.	.	.	.	.	.	.	41/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Tyr1053Ser,ENST00000424778,;SDK2,missense_variant,p.Tyr1877Ser,ENST00000388726,;SDK2,missense_variant,p.Tyr1896Ser,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;SDK2,downstream_gene_variant,,ENST00000479356,;	5688	59	56	SUCCESS
DNAH17	8632	.	GRCh37	17	76446801	76446801	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	33	56	0	ENST00000389840.5:c.10820A>T	p.Glu3607Val	p.E3607V	ENST00000389840		3607	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	.	10820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCTCCAGA	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000374490	.	67/81	.	.	.	.	.	.	.	.	.	67/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Glu3616Val,ENST00000585328,;DNAH17,missense_variant,p.Glu3607Val,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,downstream_gene_variant,,ENST00000592152,;DNAH17,missense_variant,p.Glu822Val,ENST00000591369,;DNAH17,upstream_gene_variant,,ENST00000590227,;	10945	56	58	SUCCESS
RBFOX3	146713	.	GRCh37	17	77090422	77090422	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	9	0	ENST00000580155.1:c.936+111A>G		p.*312*	ENST00000580155	NM_001082575.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45805.1	.	MUTECT|MUSE	.	AAGTCTCCGGG	NONE	.	.	.	.	.	ENSP00000408395	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000415831	Transcript	.	.	ENSG00000167281	27097	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFOX3_HUMAN	RBFOX3	HGNC	.	.	UPI000020041C	SNV	RBFOX3,3_prime_UTR_variant,,ENST00000584778,;RBFOX3,intron_variant,,ENST00000415831,;RBFOX3,intron_variant,,ENST00000580155,;RBFOX3,intron_variant,,ENST00000583458,;RBFOX3,intron_variant,,ENST00000582043,;RBFOX3,intron_variant,,ENST00000582880,;RBFOX3,intron_variant,,ENST00000453134,;RBFOX3,intron_variant,,ENST00000582894,;RBFOX3,intron_variant,,ENST00000581393,;RBFOX3,intron_variant,,ENST00000578998,;	.	9	8	SUCCESS
RNF213	57674	.	GRCh37	17	78313796	78313796	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	12	0	ENST00000582970.1:c.5629T>G	p.Leu1877Val	p.L1877V	ENST00000582970	NM_001256071.1	1877	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS58606.1	5629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTTGCTG	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5,Low_complexity_(Seg):seg	.	.	ENSP00000464087	.	26/68	.	.	.	.	.	.	.	.	.	26/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.78)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Leu1877Val,ENST00000582970,;RNF213,missense_variant,p.Leu1926Val,ENST00000508628,;RNF213,upstream_gene_variant,,ENST00000336301,;RNF213,downstream_gene_variant,,ENST00000456466,;RNF213,downstream_gene_variant,,ENST00000571908,;RNF213,downstream_gene_variant,,ENST00000559070,;	5772	12	17	SUCCESS
GLP2R	9340	.	GRCh37	17	9739777	9739777	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1384619512	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	24	109	0	ENST00000262441.5:c.367C>T	p.Pro123Ser	p.P123S	ENST00000262441	NM_004246.1	123	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11150.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCTTGG	NONE	.	.	PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418	.	.	ENSP00000262441	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000262441	Transcript	.	.	ENSG00000065325	4325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	GLP2R_HUMAN	GLP2R	HGNC	I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN	.	UPI0000050469	SNV	GLP2R,missense_variant,p.Pro123Ser,ENST00000262441,;GLP2R,5_prime_UTR_variant,,ENST00000574745,;GLP2R,3_prime_UTR_variant,,ENST00000458005,;	880	109	38	SUCCESS
MBD1	4152	.	GRCh37	18	47801768	47801768	+	intron_variant	Intron	SNP	C	C	T	rs372009396	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	27	0	ENST00000269468.5:c.793-153G>A		p.*265*	ENST00000269468	NM_015846.3			0	T:0.0006	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS59320.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCGTCGC	NONE	byCluster|by1000G	.	.	T:0	T:0.0003	ENSP00000468785	T:0	.	.	.	.	.	.	.	.	.	rs372009396	.	PASS	ENST00000590208	Transcript	.	T:0.0002	ENSG00000141644	6916	.	.	MODIFIER	8/15	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	MBD1	HGNC	K7ESN0_HUMAN	.	UPI0001F995B6	SNV	MBD1,missense_variant,p.Arg280His,ENST00000585595,;MBD1,missense_variant,p.Arg280His,ENST00000398495,;MBD1,missense_variant,p.Arg156His,ENST00000592060,;MBD1,missense_variant,p.Arg280His,ENST00000457839,;MBD1,missense_variant,p.Arg306His,ENST00000424334,;MBD1,intron_variant,,ENST00000588937,;MBD1,intron_variant,,ENST00000587605,;MBD1,intron_variant,,ENST00000269471,;MBD1,intron_variant,,ENST00000589733,;MBD1,intron_variant,,ENST00000347968,;MBD1,intron_variant,,ENST00000269468,;MBD1,intron_variant,,ENST00000591535,;MBD1,intron_variant,,ENST00000590208,;MBD1,intron_variant,,ENST00000339998,;MBD1,intron_variant,,ENST00000398493,;MBD1,intron_variant,,ENST00000585672,;MBD1,intron_variant,,ENST00000436910,;MBD1,intron_variant,,ENST00000353909,;MBD1,intron_variant,,ENST00000349085,;MBD1,intron_variant,,ENST00000382948,;MBD1,intron_variant,,ENST00000591416,;MBD1,intron_variant,,ENST00000398488,;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,intron_variant,,ENST00000586679,;MBD1,intron_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,downstream_gene_variant,,ENST00000589758,;MBD1,downstream_gene_variant,,ENST00000590215,;MBD1,downstream_gene_variant,,ENST00000586118,;	.	27	20	SUCCESS
ATP9B	374868	.	GRCh37	18	76966943	76966943	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	15	37	0	ENST00000426216.2:c.961A>T	p.Ser321Cys	p.S321C	ENST00000426216	NM_198531.3	321	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12014.1	961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACAGTGAC	NONE	.	.	hmmpanther:PTHR24092:SF50,hmmpanther:PTHR24092,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01652	.	.	ENSP00000398076	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000426216	Transcript	.	.	ENSG00000166377	13541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	ATP9B_HUMAN	ATP9B	HGNC	.	.	UPI00002371AF	SNV	ATP9B,missense_variant,p.Ser321Cys,ENST00000426216,;ATP9B,missense_variant,p.Ser321Cys,ENST00000307671,;ATP9B,missense_variant,p.Gln289Leu,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000585674,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;ATP9B,upstream_gene_variant,,ENST00000587878,;	978	37	21	SUCCESS
CTDP1	9150	.	GRCh37	18	77455996	77455996	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	26	0	ENST00000299543.7:c.418A>T	p.Lys140Ter	p.K140*	ENST00000299543	NM_001202504.1	140	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS12017.1	418	MUTECT|MUSE	.	ACGGGAAGCAG	NONE	.	.	hmmpanther:PTHR23081:SF0,hmmpanther:PTHR23081	.	.	ENSP00000299543	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000299543	Transcript	.	.	ENSG00000060069	2498	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTDP1_HUMAN	CTDP1	HGNC	K7EPW4_HUMAN	.	UPI000013C57B	SNV	CTDP1,stop_gained,p.Lys21Ter,ENST00000590635,;CTDP1,stop_gained,p.Lys72Ter,ENST00000591598,;CTDP1,stop_gained,p.Lys140Ter,ENST00000075430,;CTDP1,stop_gained,p.Lys140Ter,ENST00000299543,;	565	26	13	SUCCESS
KEAP1	9817	.	GRCh37	19	10602745	10602745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1040740503	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	72	0	ENST00000171111.5:c.833C>T	p.Pro278Leu	p.P278L	ENST00000171111	NM_203500.1	278	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12239.1	833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGGCGTC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	COSM377897	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Pro278Leu,ENST00000393623,;KEAP1,missense_variant,p.Pro278Leu,ENST00000592055,;KEAP1,missense_variant,p.Pro278Leu,ENST00000171111,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;KEAP1,upstream_gene_variant,,ENST00000590593,;	1381	72	34	SUCCESS
C19orf38	255809	.	GRCh37	19	10959175	10959175	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1226857212	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	71	0	ENST00000397820.4:c.-10G>A		p.*4*	ENST00000397820	NM_001136482.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45970.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAACGCAGAG	NONE	.	.	.	.	.	ENSP00000380920	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000397820	Transcript	.	.	ENSG00000214212	34073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HIDE1_HUMAN	C19orf38	HGNC	.	.	UPI0000160991	SNV	C19orf38,5_prime_UTR_variant,,ENST00000397820,;C19orf38,5_prime_UTR_variant,,ENST00000592854,;C19orf38,non_coding_transcript_exon_variant,,ENST00000587494,;	98	72	41	SUCCESS
CCDC151	0	.	GRCh37	19	11545698	11545698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	20	75	0	ENST00000356392.4:c.140C>A	p.Ala47Glu	p.A47E	ENST00000356392	NM_145045.4	47	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS42501.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGCCTGG	NONE	.	.	hmmpanther:PTHR21694:SF1,hmmpanther:PTHR21694	.	.	ENSP00000348757	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000356392	Transcript	1	.	ENSG00000198003	28303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious_low_confidence(0)	.	CC151_HUMAN	CCDC151	HGNC	K7EPK8_HUMAN,B7ZMB9_HUMAN	.	UPI000040CC83	SNV	CCDC151,missense_variant,p.Ala47Glu,ENST00000356392,;CCDC151,missense_variant,p.Ala47Glu,ENST00000591179,;CCDC151,intron_variant,,ENST00000545100,;CCDC151,intron_variant,,ENST00000586836,;PRKCSH,upstream_gene_variant,,ENST00000587509,;PRKCSH,upstream_gene_variant,,ENST00000591946,;PRKCSH,upstream_gene_variant,,ENST00000588269,;PRKCSH,upstream_gene_variant,,ENST00000589838,;PRKCSH,upstream_gene_variant,,ENST00000412601,;PRKCSH,upstream_gene_variant,,ENST00000593101,;PRKCSH,upstream_gene_variant,,ENST00000592741,;PRKCSH,upstream_gene_variant,,ENST00000591462,;PRKCSH,upstream_gene_variant,,ENST00000587327,;PRKCSH,upstream_gene_variant,,ENST00000589126,;PRKCSH,upstream_gene_variant,,ENST00000252455,;snoU13,upstream_gene_variant,,ENST00000459022,;PRKCSH,upstream_gene_variant,,ENST00000593104,;PRKCSH,upstream_gene_variant,,ENST00000593053,;CCDC151,missense_variant,p.Ala47Glu,ENST00000591345,;CCDC151,non_coding_transcript_exon_variant,,ENST00000593281,;	228	75	28	SUCCESS
LPHN1	0	.	GRCh37	19	14294492	14294492	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	23	0	ENST00000340736.6:c.-78T>C		p.*26*	ENST00000340736	NM_001008701.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32928.1	.	MUTECT|MUSE	.	GCACCACGGCC	NONE	.	.	.	.	.	ENSP00000340688	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000340736	Transcript	.	.	ENSG00000072071	20973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPHN1_HUMAN	LPHN1	HGNC	.	.	UPI000005046A	SNV	LPHN1,5_prime_UTR_variant,,ENST00000361434,;LPHN1,5_prime_UTR_variant,,ENST00000340736,;	221	23	25	SUCCESS
CYP4F22	126410	.	GRCh37	19	15636153	15636153	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	32	0	ENST00000269703.3:c.6G>A	p.Leu2=	p.L2=	ENST00000269703	NM_173483.3	2	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12331.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGCCCAT	NONE	.	.	.	.	.	ENSP00000269703	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000269703	Transcript	1	.	ENSG00000171954	26820	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4FN_HUMAN	CYP4F22	HGNC	.	.	UPI000013D84B	SNV	CYP4F22,synonymous_variant,p.%3D,ENST00000269703,;CYP4F22,synonymous_variant,p.%3D,ENST00000601005,;	205	32	25	SUCCESS
OR10H1	26539	.	GRCh37	19	15917916	15917916	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	101	0	ENST00000334920.2:c.932A>C	p.Tyr311Ser	p.Y311S	ENST00000334920	NM_013940.2	311	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS12335.1	932	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTAGAGT	NONE	.	.	hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Superfamily_domains:SSF81321	.	.	ENSP00000335596	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334920	Transcript	.	.	ENSG00000186723	8172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.35)	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,missense_variant,p.Tyr311Ser,ENST00000334920,;	1021	101	51	SUCCESS
CHERP	10523	.	GRCh37	19	16634007	16634007	+	synonymous_variant	Silent	SNP	G	G	A	rs1281784169	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	68	0	ENST00000546361.2:c.1836C>T	p.Phe612=	p.F612=	ENST00000546361	NM_006387.5	612	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS42518.1	1836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGAAGTC	NONE	.	.	hmmpanther:PTHR12323	.	.	ENSP00000439856	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000546361	Transcript	.	.	ENSG00000085872	16930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHERP_HUMAN	CHERP	HGNC	.	.	UPI00001AE5BE	SNV	CHERP,synonymous_variant,p.%3D,ENST00000546361,;CHERP,synonymous_variant,p.%3D,ENST00000198939,;C19orf44,downstream_gene_variant,,ENST00000594035,;C19orf44,downstream_gene_variant,,ENST00000221671,;CHERP,non_coding_transcript_exon_variant,,ENST00000544299,;CTD-3222D19.2,intron_variant,,ENST00000409035,;CHERP,upstream_gene_variant,,ENST00000600432,;CHERP,upstream_gene_variant,,ENST00000597261,;C19orf44,downstream_gene_variant,,ENST00000593380,;C19orf44,downstream_gene_variant,,ENST00000601109,;	1988	68	41	SUCCESS
SIN3B	23309	.	GRCh37	19	16973709	16973709	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	87	0	ENST00000379803.1:c.1281A>C	p.Thr427=	p.T427=	ENST00000379803	NM_015260.2	427	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS32946.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACACTTCT	NONE	.	.	SMART_domains:SM00761,Pfam_domain:PF08295,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1	.	.	ENSP00000369131	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	SNV	SIN3B,synonymous_variant,p.%3D,ENST00000596638,;SIN3B,synonymous_variant,p.%3D,ENST00000379803,;SIN3B,intron_variant,,ENST00000248054,;SIN3B,upstream_gene_variant,,ENST00000595541,;SIN3B,upstream_gene_variant,,ENST00000599880,;SIN3B,upstream_gene_variant,,ENST00000594372,;	1295	87	39	SUCCESS
ATP8B3	148229	.	GRCh37	19	1809732	1809732	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	35	0	ENST00000310127.6:c.312A>C		p.X104_splice	ENST00000310127	NM_138813.3	104	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS45901.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAATGCTGC	NONE	.	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092	.	.	ENSP00000311336	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,synonymous_variant,p.%3D,ENST00000310127,;ATP8B3,synonymous_variant,p.%3D,ENST00000587160,;ATP8B3,synonymous_variant,p.%3D,ENST00000533993,;ATP8B3,synonymous_variant,p.%3D,ENST00000539485,;ATP8B3,synonymous_variant,p.%3D,ENST00000526092,;ATP8B3,synonymous_variant,p.%3D,ENST00000525591,;ATP8B3,missense_variant,p.His67Pro,ENST00000531925,;ATP8B3,upstream_gene_variant,,ENST00000533107,;	551	35	30	SUCCESS
IL12RB1	3594	.	GRCh37	19	18186614	18186614	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	65	0	ENST00000593993.2:c.645G>T	p.Leu215=	p.L215=	ENST00000593993	NM_005535.1	215	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54232.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGCTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51,Gene3D:2.60.40.10	.	.	ENSP00000470788	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000600835	Transcript	1	.	ENSG00000096996	5971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I12R1_HUMAN	IL12RB1	HGNC	M0R382_HUMAN,M0QX06_HUMAN	.	UPI00000502CE	SNV	IL12RB1,synonymous_variant,p.%3D,ENST00000322153,;IL12RB1,synonymous_variant,p.%3D,ENST00000593993,;IL12RB1,synonymous_variant,p.%3D,ENST00000600835,;	944	65	33	SUCCESS
ZNF208	7757	.	GRCh37	19	22157397	22157397	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs530559517	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	87	0	ENST00000397126.4:c.439C>A	p.Arg147Ser	p.R147S	ENST00000397126	NM_007153.3	147	Cgt/Agt	0	.	A:0	.	A:0	.	T	R/S	protein_coding	YES	CCDS54240.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGTTGAA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103	A:0.001	.	ENSP00000380315	A:0	4/4	.	.	.	.	.	.	.	.	rs530559517	4/4	PASS	ENST00000397126	Transcript	.	A:0.0004	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	A:0.001	tolerated(0.41)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Arg147Ser,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	588	87	46	SUCCESS
HPN	3249	.	GRCh37	19	35551262	35551262	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	24	0	ENST00000262626.2:c.466A>T	p.Arg156Trp	p.R156W	ENST00000262626	NM_182983.2	156	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32993.1	466	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCAGGAAG	NONE	.	.	Superfamily_domains:SSF56487,Pfam_domain:PF09272,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5	.	.	ENSP00000262626	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000262626	Transcript	.	.	ENSG00000105707	5155	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	HEPS_HUMAN	HPN	HGNC	M0R244_HUMAN,B2ZDQ2_HUMAN	.	UPI000003FE67	SNV	HPN,missense_variant,p.Arg156Trp,ENST00000262626,;HPN,missense_variant,p.Arg156Trp,ENST00000392226,;HPN,intron_variant,,ENST00000597419,;HPN,downstream_gene_variant,,ENST00000600390,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,downstream_gene_variant,,ENST00000600675,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,downstream_gene_variant,,ENST00000596662,;	1291	24	18	SUCCESS
HCST	10870	.	GRCh37	19	36393483	36393483	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	132	0	ENST00000246551.4:c.-13A>T		p.*5*	ENST00000246551				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGACCCCA	NONE	.	.	.	.	.	ENSP00000246551	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000246551	Transcript	.	.	ENSG00000126264	16977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCST_HUMAN	HCST	HGNC	.	.	UPI000006E074	SNV	HCST,5_prime_UTR_variant,,ENST00000437550,;HCST,5_prime_UTR_variant,,ENST00000246551,;TYROBP,downstream_gene_variant,,ENST00000544690,;TYROBP,downstream_gene_variant,,ENST00000589517,;TYROBP,downstream_gene_variant,,ENST00000424586,;TYROBP,downstream_gene_variant,,ENST00000262629,;NFKBID,upstream_gene_variant,,ENST00000606253,;NFKBID,upstream_gene_variant,,ENST00000585925,;NFKBID,upstream_gene_variant,,ENST00000352614,;NFKBID,upstream_gene_variant,,ENST00000396901,;TYROBP,downstream_gene_variant,,ENST00000585901,;NFKBID,upstream_gene_variant,,ENST00000585544,;NFKBID,upstream_gene_variant,,ENST00000591730,;TYROBP,downstream_gene_variant,,ENST00000588439,;NFKBID,upstream_gene_variant,,ENST00000586361,;NFKBID,upstream_gene_variant,,ENST00000588497,;TYROBP,downstream_gene_variant,,ENST00000587837,;TYROBP,downstream_gene_variant,,ENST00000586946,;NFKBID,upstream_gene_variant,,ENST00000588039,;TYROBP,downstream_gene_variant,,ENST00000585626,;	102	132	52	SUCCESS
POLR2I	5438	.	GRCh37	19	36604924	36604924	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1475908364	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	76	0	ENST00000221859.4:c.308G>A	p.Arg103Gln	p.R103Q	ENST00000221859	NM_006233.4	103	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12487.1	308	RADIA|MUTECT|MUSE	.	CGGCCCGCGCA	NONE	.	.	PROSITE_profiles:PS51133,hmmpanther:PTHR11239:SF1,hmmpanther:PTHR11239,PROSITE_patterns:PS00466,Gene3D:2.20.25.10,Pfam_domain:PF01096,SMART_domains:SM00440,PIRSF_domain:PIRSF005586,Superfamily_domains:SSF57783	.	.	ENSP00000221859	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000221859	Transcript	.	.	ENSG00000105258	9196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.221)	.	deleterious(0.02)	.	RPB9_HUMAN	POLR2I	HGNC	K7EKS1_HUMAN	.	UPI0000001B8F	SNV	POLR2I,missense_variant,p.Arg103Gln,ENST00000221859,;TBCB,upstream_gene_variant,,ENST00000589996,;OVOL3,downstream_gene_variant,,ENST00000586670,;OVOL3,downstream_gene_variant,,ENST00000585332,;TBCB,upstream_gene_variant,,ENST00000591296,;TBCB,upstream_gene_variant,,ENST00000586868,;TBCB,upstream_gene_variant,,ENST00000585746,;OVOL3,downstream_gene_variant,,ENST00000262637,;TBCB,upstream_gene_variant,,ENST00000221855,;TBCB,upstream_gene_variant,,ENST00000588385,;TBCB,upstream_gene_variant,,ENST00000593075,;TBCB,upstream_gene_variant,,ENST00000589308,;TBCB,upstream_gene_variant,,ENST00000392178,;POLR2I,3_prime_UTR_variant,,ENST00000586439,;POLR2I,3_prime_UTR_variant,,ENST00000585842,;POLR2I,3_prime_UTR_variant,,ENST00000592962,;POLR2I,non_coding_transcript_exon_variant,,ENST00000586789,;POLR2I,non_coding_transcript_exon_variant,,ENST00000589591,;TBCB,upstream_gene_variant,,ENST00000589624,;TBCB,upstream_gene_variant,,ENST00000481742,;POLR2I,downstream_gene_variant,,ENST00000589069,;	798	76	45	SUCCESS
ATCAY	85300	.	GRCh37	19	3918830	3918830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	33	108	0	ENST00000450849.2:c.1028T>C	p.Leu343Pro	p.L343P	ENST00000450849	NM_033064.4	343	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS45923.1	1028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTGCCCA	NONE	.	.	hmmpanther:PTHR12112	.	.	ENSP00000390941	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000450849	Transcript	1	.	ENSG00000167654	779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.11)	.	ATCAY_HUMAN	ATCAY	HGNC	M0R197_HUMAN	.	UPI000006DE3B	SNV	ATCAY,missense_variant,p.Leu349Pro,ENST00000398448,;ATCAY,missense_variant,p.Leu343Pro,ENST00000600960,;ATCAY,missense_variant,p.Leu343Pro,ENST00000301260,;ATCAY,missense_variant,p.Leu343Pro,ENST00000450849,;RN7SL202P,downstream_gene_variant,,ENST00000584410,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	1495	108	56	SUCCESS
SARS2	54938	.	GRCh37	19	39416927	39416927	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs766722212	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	18	0	ENST00000221431.6:c.281A>C	p.Gln94Pro	p.Q94P	ENST00000221431	NM_017827.3	94	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS54265.1	281	MUTECT|MUSE	.	GCTCCTGCCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,TIGRFAM_domain:TIGR00414,Gene3D:1.10.287.40,PIRSF_domain:PIRSF001529	.	.	ENSP00000472847	.	2/17	.	.	.	.	.	.	.	.	rs766722212	2/17	PASS	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.913)	.	deleterious(0.01)	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,missense_variant,p.Gln94Pro,ENST00000600042,;SARS2,missense_variant,p.Gln94Pro,ENST00000448145,;SARS2,missense_variant,p.Gln94Pro,ENST00000221431,;CTC-360G5.8,missense_variant,p.Gln164Pro,ENST00000599996,;SARS2,missense_variant,p.Gln94Pro,ENST00000430193,;SARS2,5_prime_UTR_variant,,ENST00000594171,;MRPS12,upstream_gene_variant,,ENST00000407800,;MRPS12,upstream_gene_variant,,ENST00000308018,;MRPS12,upstream_gene_variant,,ENST00000402029,;SARS2,missense_variant,p.Gln94Pro,ENST00000455102,;SARS2,missense_variant,p.Gln94Pro,ENST00000598343,;SARS2,3_prime_UTR_variant,,ENST00000593754,;SARS2,non_coding_transcript_exon_variant,,ENST00000598598,;MRPS12,upstream_gene_variant,,ENST00000598734,;SARS2,upstream_gene_variant,,ENST00000600448,;	306	18	11	SUCCESS
FCGBP	8857	.	GRCh37	19	40376756	40376756	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	158	0	ENST00000221347.6:c.11666G>T	p.Cys3889Phe	p.C3889F	ENST00000221347	NM_003890.2	3889	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS12546.1	11666	RADIA|VARSCANS	.	AGATGCAATCT	NONE	.	.	hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	.	.	ENSP00000221347	.	24/36	.	.	.	.	.	.	.	.	COSM996455	24/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.639)	.	.	1	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Cys3889Phe,ENST00000221347,;FCGBP,downstream_gene_variant,,ENST00000595713,;	11674	159	59	SUCCESS
SHD	56961	.	GRCh37	19	4280338	4280338	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	47	0	ENST00000543264.2:c.278T>A	p.Leu93Gln	p.L93Q	ENST00000543264	NM_020209.3	93	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12125.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGGGCG	NONE	.	.	hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF28	.	.	ENSP00000446058	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000543264	Transcript	.	.	ENSG00000105251	30633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.653)	.	tolerated(0.13)	.	SHD_HUMAN	SHD	HGNC	.	.	UPI000007030D	SNV	SHD,missense_variant,p.Leu93Gln,ENST00000543264,;SHD,missense_variant,p.Leu93Gln,ENST00000599689,;SHD,upstream_gene_variant,,ENST00000600475,;SHD,upstream_gene_variant,,ENST00000593383,;	1741	47	33	SUCCESS
MEGF8	1954	.	GRCh37	19	42853717	42853717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	37	0	ENST00000251268.6:c.2365G>T	p.Ala789Ser	p.A789S	ENST00000251268		789	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS12604.2	2164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTGCTCGC	NONE	.	.	.	.	.	ENSP00000334219	.	13/41	.	.	.	.	.	.	.	.	.	13/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Ala722Ser,ENST00000334370,;MEGF8,missense_variant,p.Ala789Ser,ENST00000251268,;MEGF8,upstream_gene_variant,,ENST00000593840,;	2799	37	14	SUCCESS
LIPE	3991	.	GRCh37	19	42906917	42906917	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1319569762	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	53	0	ENST00000244289.4:c.2809G>A	p.Val937Ile	p.V937I	ENST00000244289	NM_005357.2	937	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS12607.1	2809	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGACGCCCA	NONE	.	.	hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3	.	.	ENSP00000244289	.	9/10	.	.	.	.	.	.	.	.	COSM997438	9/10	PASS	ENST00000244289	Transcript	.	.	ENSG00000079435	6621	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.015)	.	tolerated(0.23)	1	LIPS_HUMAN	LIPE	HGNC	M0QXM5_HUMAN,M0QXB1_HUMAN	.	UPI000013CB66	SNV	LIPE,missense_variant,p.Val210Ile,ENST00000599918,;LIPE,missense_variant,p.Val167Ile,ENST00000597620,;LIPE,missense_variant,p.Val937Ile,ENST00000244289,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE,downstream_gene_variant,,ENST00000602000,;LIPE,non_coding_transcript_exon_variant,,ENST00000600224,;	3086	53	29	SUCCESS
PSG2	5670	.	GRCh37	19	43576075	43576075	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	140	0	ENST00000406487.1:c.741A>G	p.Ser247=	p.S247=	ENST00000406487	NM_031246.3	247	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS12616.1	741	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTATGAAGG	CODON|p.S247L|c.740C>T|4	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF109,PROSITE_profiles:PS50835	.	.	ENSP00000385706	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000406487	Transcript	.	.	ENSG00000242221	9519	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSG2_HUMAN	PSG2	HGNC	.	.	UPI000013CCF5	SNV	PSG2,synonymous_variant,p.%3D,ENST00000329509,;PSG2,synonymous_variant,p.%3D,ENST00000406487,;PSG2,non_coding_transcript_exon_variant,,ENST00000593482,;	840	140	96	SUCCESS
PLIN4	729359	.	GRCh37	19	4511838	4511838	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	38	177	0	ENST00000301286.3:c.2092A>T	p.Lys698Ter	p.K698*	ENST00000301286	NM_001080400.1	698	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45927.1	2092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTTGGCGA	NONE	.	.	hmmpanther:PTHR14024:SF24,hmmpanther:PTHR14024	.	.	ENSP00000301286	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000301286	Transcript	.	.	ENSG00000167676	29393	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLIN4_HUMAN	PLIN4	HGNC	B4DHR7_HUMAN	.	UPI00001D822A	SNV	PLIN4,stop_gained,p.Lys698Ter,ENST00000301286,;	2092	177	102	SUCCESS
CLPTM1	1209	.	GRCh37	19	45480646	45480646	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	43	0	ENST00000337392.5:c.515A>G	p.Lys172Arg	p.K172R	ENST00000337392	NM_001294.2	172	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS12651.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAGAGTG	NONE	.	.	hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0,Pfam_domain:PF05602	.	.	ENSP00000336994	.	5/14	.	.	.	.	.	.	.	.	COSM145242,COSM1317058	5/14	PASS	ENST00000337392	Transcript	.	.	ENSG00000104853	2087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.534)	.	tolerated(0.18)	1,1	CLPT1_HUMAN	CLPTM1	HGNC	K7EKQ7_HUMAN,B4DDS3_HUMAN	.	UPI0000072CBA	SNV	CLPTM1,missense_variant,p.Lys119Arg,ENST00000591304,;CLPTM1,missense_variant,p.Lys158Arg,ENST00000541297,;CLPTM1,missense_variant,p.Lys172Arg,ENST00000337392,;CLPTM1,missense_variant,p.Lys70Arg,ENST00000546079,;CLPTM1,downstream_gene_variant,,ENST00000585961,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588855,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000587537,;	665	43	52	SUCCESS
TRAPPC6A	79090	.	GRCh37	19	45668133	45668133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	75	0	ENST00000585934.1:c.248A>G	p.Asp83Gly	p.D83G	ENST00000585934	NM_001270891.1	83	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12655.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTCCATC	NONE	.	.	Superfamily_domains:SSF111126,Gene3D:3.30.1380.20,Pfam_domain:PF04051,hmmpanther:PTHR12817,hmmpanther:PTHR12817:SF2	.	.	ENSP00000006275	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000006275	Transcript	.	.	ENSG00000007255	23069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0.01)	.	TPC6A_HUMAN	TRAPPC6A	HGNC	.	.	UPI0000052E20	SNV	TRAPPC6A,missense_variant,p.Asp83Gly,ENST00000585934,;TRAPPC6A,missense_variant,p.Asp97Gly,ENST00000006275,;TRAPPC6A,synonymous_variant,p.%3D,ENST00000588062,;TRAPPC6A,synonymous_variant,p.%3D,ENST00000592647,;MARK4,intron_variant,,ENST00000587566,;NKPD1,upstream_gene_variant,,ENST00000317951,;TRAPPC6A,non_coding_transcript_exon_variant,,ENST00000587818,;	309	75	84	SUCCESS
MARK4	57787	.	GRCh37	19	45783689	45783689	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	19	200	0	ENST00000262891.4:c.1064A>T	p.Gln355Leu	p.Q355L	ENST00000262891	NM_001199867.1	355	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS56097.1	1064	MUTECT|MUSE|VARSCANS	.	CAGCCAGAAGT	NONE	.	.	PROSITE_profiles:PS50030,hmmpanther:PTHR24346:SF22,hmmpanther:PTHR24346,Pfam_domain:PF00627,Gene3D:1.10.8.10,SMART_domains:SM00165	.	.	ENSP00000262891	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000262891	Transcript	.	.	ENSG00000007047	13538	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.013)	.	deleterious(0.02)	.	MARK4_HUMAN	MARK4	HGNC	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN	.	UPI0000044D47	SNV	MARK4,missense_variant,p.Gln355Leu,ENST00000262891,;MARK4,missense_variant,p.Gln355Leu,ENST00000300843,;MARK4,3_prime_UTR_variant,,ENST00000592762,;MARK4,3_prime_UTR_variant,,ENST00000592207,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000590897,;	1395	200	246	SUCCESS
PLIN3	10226	.	GRCh37	19	4844773	4844773	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750604861	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	41	0	ENST00000221957.4:c.867G>T	p.Lys289Asn	p.K289N	ENST00000221957	NM_001164194.1	289	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS12137.1	867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCTTCTG	NONE	.	.	hmmpanther:PTHR14024,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881,Superfamily_domains:0043810	.	.	ENSP00000221957	.	7/8	.	.	.	.	.	.	.	.	rs750604861	7/8	PASS	ENST00000221957	Transcript	.	.	ENSG00000105355	16893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	PLIN3_HUMAN	PLIN3	HGNC	K7EL96_HUMAN,K7EJD0_HUMAN	.	UPI000013C7E2	SNV	PLIN3,missense_variant,p.Lys147Asn,ENST00000589163,;PLIN3,missense_variant,p.Lys289Asn,ENST00000585479,;PLIN3,missense_variant,p.Lys289Asn,ENST00000221957,;PLIN3,missense_variant,p.Lys277Asn,ENST00000592528,;	1044	41	22	SUCCESS
ELSPBP1	64100	.	GRCh37	19	48523032	48523032	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	25	118	0	ENST00000339841.2:c.412A>T	p.Asn138Tyr	p.N138Y	ENST00000339841	NM_022142.4	138	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS12708.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATAATGTG	NONE	.	.	PROSITE_profiles:PS51092,hmmpanther:PTHR22918:SF5,hmmpanther:PTHR22918,Pfam_domain:PF00040,Gene3D:2.10.10.10,SMART_domains:SM00059,Superfamily_domains:SSF57440	.	.	ENSP00000340660	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000339841	Transcript	.	.	ENSG00000169393	14417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	tolerated(0.1)	.	ESPB1_HUMAN	ELSPBP1	HGNC	M0QZH6_HUMAN	.	UPI000013EA82	SNV	ELSPBP1,missense_variant,p.Asn69Tyr,ENST00000593782,;ELSPBP1,missense_variant,p.Asn138Tyr,ENST00000339841,;ELSPBP1,missense_variant,p.Asn92Tyr,ENST00000596043,;ELSPBP1,intron_variant,,ENST00000597519,;ELSPBP1,upstream_gene_variant,,ENST00000593413,;	590	118	138	SUCCESS
KCNJ14	3770	.	GRCh37	19	48967700	48967700	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	90	0	ENST00000342291.2:c.977T>C	p.Leu326Pro	p.L326P	ENST00000342291	NM_013348.3	326	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS12721.1	977	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCTCTGGG	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF40,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000375756	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000391884	Transcript	.	.	ENSG00000182324	6260	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	IRK14_HUMAN	KCNJ14	HGNC	.	.	UPI000003E7B4	SNV	KCNJ14,missense_variant,p.Leu326Pro,ENST00000342291,;KCNJ14,missense_variant,p.Leu326Pro,ENST00000391884,;CYTH2,upstream_gene_variant,,ENST00000427476,;CTC-273B12.7,upstream_gene_variant,,ENST00000595676,;CYTH2,upstream_gene_variant,,ENST00000452733,;CTC-273B12.6,upstream_gene_variant,,ENST00000597574,;CTC-273B12.5,downstream_gene_variant,,ENST00000593476,;CTC-273B12.5,downstream_gene_variant,,ENST00000600650,;CTC-273B12.5,downstream_gene_variant,,ENST00000596497,;CTC-273B12.5,downstream_gene_variant,,ENST00000600529,;CYTH2,upstream_gene_variant,,ENST00000462117,;CYTH2,upstream_gene_variant,,ENST00000474049,;CYTH2,upstream_gene_variant,,ENST00000493260,;CYTH2,upstream_gene_variant,,ENST00000391881,;CYTH2,upstream_gene_variant,,ENST00000460595,;	1453	90	95	SUCCESS
PRR12	57479	.	GRCh37	19	50118152	50118152	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	77	0	ENST00000418929.2:c.4910A>T	p.Asp1637Val	p.D1637V	ENST00000418929	NM_020719.1	1637	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS46143.1	4910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGATGCAA	NONE	.	.	hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	.	.	ENSP00000394510	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,missense_variant,p.Asp1637Val,ENST00000418929,;	4922	77	94	SUCCESS
SIGLEC9	27180	.	GRCh37	19	51630384	51630384	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	62	0	ENST00000250360.3:c.846T>A	p.Pro282=	p.P282=	ENST00000250360	NM_014441.2	282	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS56100.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTGCCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000413861	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000440804	Transcript	.	.	ENSG00000129450	10878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SIGLEC9	HGNC	.	.	UPI00017A75A8	SNV	SIGLEC9,synonymous_variant,p.%3D,ENST00000440804,;SIGLEC9,synonymous_variant,p.%3D,ENST00000599948,;SIGLEC9,synonymous_variant,p.%3D,ENST00000250360,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	913	62	75	SUCCESS
IGLON5	402665	.	GRCh37	19	51830988	51830988	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	20	0	ENST00000270642.8:c.770T>A	p.Leu257Gln	p.L257Q	ENST00000270642	NM_001101372.1	257	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46158.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTGAGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF9,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000270642	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000270642	Transcript	.	.	ENSG00000142549	34550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IGLO5_HUMAN	IGLON5	HGNC	.	.	UPI000058F1A8	SNV	IGLON5,missense_variant,p.Leu257Gln,ENST00000270642,;VSIG10L,downstream_gene_variant,,ENST00000335624,;VSIG10L,downstream_gene_variant,,ENST00000600663,;	770	20	17	SUCCESS
SIGLEC10	89790	.	GRCh37	19	51918290	51918290	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756690528	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	33	0	ENST00000339313.5:c.1403C>A	p.Ala468Asp	p.A468D	ENST00000339313		468	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS12832.1	1403	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035,Superfamily_domains:SSF48726	.	.	ENSP00000348646	.	8/12	.	.	.	.	.	.	.	.	rs756690528	8/12	PASS	ENST00000356298	Transcript	.	.	ENSG00000142512	15620	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SIG10_HUMAN	SIGLEC10	HGNC	.	.	UPI0000047E1A	SNV	SIGLEC10,missense_variant,p.Ala468Asp,ENST00000339313,;SIGLEC10,missense_variant,p.Ala468Asp,ENST00000356298,;SIGLEC10,missense_variant,p.Ala410Asp,ENST00000439889,;SIGLEC10,intron_variant,,ENST00000436984,;SIGLEC10,intron_variant,,ENST00000525998,;SIGLEC10,intron_variant,,ENST00000432469,;SIGLEC10,intron_variant,,ENST00000442846,;SIGLEC10,intron_variant,,ENST00000353836,;SIGLEC10,intron_variant,,ENST00000441969,;SIGLEC10,downstream_gene_variant,,ENST00000530476,;SIGLEC10,downstream_gene_variant,,ENST00000529627,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;CTD-2616J11.2,upstream_gene_variant,,ENST00000532688,;CTD-2616J11.2,upstream_gene_variant,,ENST00000526996,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,downstream_gene_variant,,ENST00000524527,;	1520	33	50	SUCCESS
MIR643	693228	.	GRCh37	19	52785121	52785121	+	mature_miRNA_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	61	0	ENST00000385267.1:n.72A>G		p.*24*	ENST00000385267				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46163.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTAGCTCA	NONE	.	.	.	.	.	ENSP00000409652	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439461	Transcript	.	.	ENSG00000196214	28063	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN766_HUMAN	ZNF766	HGNC	M0R1P9_HUMAN,M0R139_HUMAN,M0QXI4_HUMAN	.	UPI0000202AF7	SNV	ZNF766,intron_variant,,ENST00000359102,;ZNF766,intron_variant,,ENST00000593703,;ZNF766,intron_variant,,ENST00000600821,;ZNF766,intron_variant,,ENST00000593612,;ZNF766,intron_variant,,ENST00000601711,;ZNF766,intron_variant,,ENST00000595149,;ZNF766,intron_variant,,ENST00000439461,;ZNF766,intron_variant,,ENST00000599581,;ZNF766,intron_variant,,ENST00000595000,;MIR643,mature_miRNA_variant,,ENST00000385267,;CTD-2525I3.5,downstream_gene_variant,,ENST00000594865,;ZNF766,intron_variant,,ENST00000600016,;	.	61	74	SUCCESS
ZNF578	147660	.	GRCh37	19	53013987	53013987	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	52	169	0	ENST00000421239.2:c.353A>G	p.Gln118Arg	p.Q118R	ENST00000421239	NM_001099694.1	118	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS54310.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACAAAAAG	NONE	.	.	hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	COSM1395946	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	tolerated(1)	1	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Gln118Arg,ENST00000421239,;ZNF578,missense_variant,p.Gln118Arg,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	597	169	176	SUCCESS
ZNF347	84671	.	GRCh37	19	53645692	53645692	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	66	0	ENST00000334197.7:c.389C>A	p.Ser130Tyr	p.S130Y	ENST00000334197	NM_032584.2	130	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS54314.1	392	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAACAT	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95	.	.	ENSP00000405218	.	5/5	.	.	.	.	.	.	.	.	COSM3538279	5/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.003)	.	tolerated(1)	1	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,missense_variant,p.Ser72Tyr,ENST00000597183,;ZNF347,missense_variant,p.Ser131Tyr,ENST00000601469,;ZNF347,missense_variant,p.Ser130Tyr,ENST00000334197,;ZNF347,missense_variant,p.Ser131Tyr,ENST00000452676,;ZNF347,missense_variant,p.Ser94Tyr,ENST00000595967,;ZNF347,intron_variant,,ENST00000601804,;	819	66	82	SUCCESS
VSTM1	284415	.	GRCh37	19	54561741	54561741	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	15	111	0	ENST00000338372.2:c.174T>A	p.Phe58Leu	p.F58L	ENST00000338372	NM_198481.3	58	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS12872.1	174	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAAATGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738:SF29,hmmpanther:PTHR11738,PROSITE_profiles:PS50835	.	.	ENSP00000343366	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000338372	Transcript	.	.	ENSG00000189068	29455	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.942)	.	deleterious(0.03)	.	VSTM1_HUMAN	VSTM1	HGNC	.	.	UPI00001D8195	SNV	VSTM1,missense_variant,p.Phe58Leu,ENST00000425006,;VSTM1,missense_variant,p.Phe58Leu,ENST00000338372,;VSTM1,missense_variant,p.Phe58Leu,ENST00000376626,;VSTM1,intron_variant,,ENST00000366170,;VSTM1,upstream_gene_variant,,ENST00000419106,;VSTM1,missense_variant,p.Phe58Leu,ENST00000447872,;	350	111	120	SUCCESS
FUT3	2525	.	GRCh37	19	5843806	5843806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	66	195	0	ENST00000303225.6:c.1045A>T	p.Arg349Trp	p.R349W	ENST00000303225	NM_000149.3	349	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12153.1	1045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACCTGGATT	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00852,hmmpanther:PTHR11929:SF137,hmmpanther:PTHR11929	.	.	ENSP00000305603	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303225	Transcript	1	.	ENSG00000171124	4014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	deleterious(0.01)	.	FUT3_HUMAN	FUT3	HGNC	K7ES24_HUMAN,K7EQ20_HUMAN,K7ENT3_HUMAN	.	UPI000013E879	SNV	FUT3,missense_variant,p.Arg349Trp,ENST00000589918,;FUT3,missense_variant,p.Arg349Trp,ENST00000458379,;FUT3,missense_variant,p.Arg349Trp,ENST00000589620,;FUT3,missense_variant,p.Arg349Trp,ENST00000303225,;FUT6,upstream_gene_variant,,ENST00000286955,;FUT3,downstream_gene_variant,,ENST00000587048,;FUT6,upstream_gene_variant,,ENST00000318336,;FUT3,downstream_gene_variant,,ENST00000587183,;FUT3,downstream_gene_variant,,ENST00000589714,;FUT6,upstream_gene_variant,,ENST00000529165,;FUT3,downstream_gene_variant,,ENST00000585715,;FUT6,upstream_gene_variant,,ENST00000524754,;AC024592.9,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT3,downstream_gene_variant,,ENST00000593144,;FUT6,upstream_gene_variant,,ENST00000591079,;	1680	195	107	SUCCESS
KHSRP	8570	.	GRCh37	19	6416517	6416517	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	106	0	ENST00000398148.3:c.1472T>C	p.Ile491Thr	p.I491T	ENST00000398148	NM_003685.2	491	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS45936.1	1472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGATAAGC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF101,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000381216	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000398148	Transcript	.	.	ENSG00000088247	6316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FUBP2_HUMAN	KHSRP	HGNC	M0QYH3_HUMAN,M0QXW7_HUMAN	.	UPI000049DE96	SNV	KHSRP,missense_variant,p.Ile491Thr,ENST00000398148,;KHSRP,missense_variant,p.Ile74Thr,ENST00000595223,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,downstream_gene_variant,,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000597656,;KHSRP,downstream_gene_variant,,ENST00000599395,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,downstream_gene_variant,,ENST00000595548,;KHSRP,upstream_gene_variant,,ENST00000594745,;MIR3940,non_coding_transcript_exon_variant,,ENST00000579148,;CTB-180A7.8,downstream_gene_variant,,ENST00000596254,;CTB-180A7.8,downstream_gene_variant,,ENST00000593563,;CTB-180A7.8,downstream_gene_variant,,ENST00000398173,;KHSRP,downstream_gene_variant,,ENST00000595112,;KHSRP,upstream_gene_variant,,ENST00000599642,;KHSRP,downstream_gene_variant,,ENST00000597704,;	1565	106	56	SUCCESS
MUC16	94025	.	GRCh37	19	9065588	9065588	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	49	0	ENST00000397910.4:c.21858T>A	p.Ser7286=	p.S7286=	ENST00000397910	NM_024690.2	7286	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54212.1	21858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTAGAGGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	22062	49	20	SUCCESS
MUC16	94025	.	GRCh37	19	9091940	9091940	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	27	0	ENST00000397910.4:c.-126A>T		p.*42*	ENST00000397910	NM_024690.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54212.1	.	MUTECT|MUSE|VARSCANS	.	TGGGGTCCCCG	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,5_prime_UTR_variant,,ENST00000397910,;	79	27	18	SUCCESS
OLFM3	118427	.	GRCh37	1	102269846	102269846	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	64	0	ENST00000338858.5:c.1385T>A	p.Val462Glu	p.V462E	ENST00000338858		462	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS30781.1	1325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCACCTGG	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000359121	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,missense_variant,p.Val462Glu,ENST00000338858,;OLFM3,missense_variant,p.Val442Glu,ENST00000370103,;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;	1539	64	82	SUCCESS
SLC25A24	29957	.	GRCh37	1	108742645	108742645	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	59	69	0	ENST00000565488.1:c.116T>A	p.Val39Glu	p.V39E	ENST00000565488	NM_013386.4	39	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS41361.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCACCACT	NONE	.	.	Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222	.	.	ENSP00000457733	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000565488	Transcript	.	.	ENSG00000085491	20662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	SCMC1_HUMAN	SLC25A24	HGNC	.	.	UPI0000206111	SNV	SLC25A24,missense_variant,p.Val39Glu,ENST00000565488,;SLC25A24,missense_variant,p.Val39Glu,ENST00000569674,;RP11-483I13.5,non_coding_transcript_exon_variant,,ENST00000564063,;SLC25A24,missense_variant,p.Val39Glu,ENST00000264128,;	336	69	100	SUCCESS
PHTF1	10745	.	GRCh37	1	114240970	114240970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	64	0	ENST00000369604.1:c.2182A>T	p.Asn728Tyr	p.N728Y	ENST00000369604		728	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS861.1	2182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATTCATTG	NONE	.	.	hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF8	.	.	ENSP00000358617	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000369604	Transcript	.	.	ENSG00000116793	8939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	PHTF1_HUMAN	PHTF1	HGNC	F6T5D1_HUMAN	.	UPI000013C9D0	SNV	PHTF1,missense_variant,p.Asn675Tyr,ENST00000369600,;PHTF1,missense_variant,p.Asn728Tyr,ENST00000369604,;PHTF1,missense_variant,p.Asn728Tyr,ENST00000393357,;PHTF1,missense_variant,p.Asn675Tyr,ENST00000369596,;PHTF1,missense_variant,p.Asn683Tyr,ENST00000369598,;PHTF1,non_coding_transcript_exon_variant,,ENST00000474926,;PHTF1,downstream_gene_variant,,ENST00000481652,;RP4-730K3.3,downstream_gene_variant,,ENST00000413412,;	2666	64	64	SUCCESS
IGSF3	3321	.	GRCh37	1	117142910	117142910	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748633506	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	43	0	ENST00000369486.3:c.1682C>G	p.Ser561Cys	p.S561C	ENST00000369486	NM_001007237.2	561	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS30814.1	1742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGAGTCG	NONE	byFrequency	.	hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358495	.	8/12	.	.	.	.	.	.	.	.	rs748633506	8/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Ser581Cys,ENST00000318837,;IGSF3,missense_variant,p.Ser561Cys,ENST00000369486,;IGSF3,missense_variant,p.Ser581Cys,ENST00000369483,;	2447	43	41	SUCCESS
DHRS3	9249	.	GRCh37	1	12640383	12640383	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	9	0	ENST00000376223.2:c.339+168A>T		p.*113*	ENST00000376223	NM_004753.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS146.1	.	MUTECT|MUSE|VARSCANS	.	ATCCCTGCCTA	NONE	.	.	.	.	.	ENSP00000365397	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376223	Transcript	.	.	ENSG00000162496	17693	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHRS3_HUMAN	DHRS3	HGNC	Q5SUY4_HUMAN,Q0QD44_HUMAN	.	UPI000006EE74	SNV	DHRS3,intron_variant,,ENST00000376223,;DHRS3,intron_variant,,ENST00000430996,;DHRS3,non_coding_transcript_exon_variant,,ENST00000482265,;DHRS3,intron_variant,,ENST00000464917,;	.	9	15	SUCCESS
MXRA8	54587	.	GRCh37	1	1290242	1290242	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772257222	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	44	95	0	ENST00000309212.6:c.769C>A	p.Leu257Met	p.L257M	ENST00000309212	NM_032348.2	257	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS24.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCAGTGAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF30,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000307887	.	5/10	.	.	.	.	.	.	.	.	rs772257222	5/10	PASS	ENST00000309212	Transcript	.	.	ENSG00000162576	7542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MXRA8_HUMAN	MXRA8	HGNC	.	.	UPI000003ED26	SNV	MXRA8,missense_variant,p.Leu156Met,ENST00000342753,;MXRA8,missense_variant,p.Leu257Met,ENST00000445648,;MXRA8,missense_variant,p.Leu248Met,ENST00000477278,;MXRA8,missense_variant,p.Leu257Met,ENST00000309212,;MXRA8,non_coding_transcript_exon_variant,,ENST00000476718,;MXRA8,downstream_gene_variant,,ENST00000464351,;MXRA8,upstream_gene_variant,,ENST00000474033,;MXRA8,downstream_gene_variant,,ENST00000460473,;MXRA8,upstream_gene_variant,,ENST00000473097,;MXRA8,upstream_gene_variant,,ENST00000478517,;	800	95	105	SUCCESS
LRRC38	126755	.	GRCh37	1	13839949	13839949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	43	0	ENST00000376085.3:c.140T>C	p.Leu47Pro	p.L47P	ENST00000376085	NM_001010847.1	47	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS53269.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCAGCCCG	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00013,Gene3D:3.80.10.10,Pfam_domain:PF01462,hmmpanther:PTHR24373	.	.	ENSP00000365253	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376085	Transcript	.	.	ENSG00000162494	27005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	LRC38_HUMAN	LRRC38	HGNC	.	.	UPI00001C1D7E	SNV	LRRC38,missense_variant,p.Leu47Pro,ENST00000376085,;RP4-597A16.2,intron_variant,,ENST00000563570,;	595	43	47	SUCCESS
PRDM2	7799	.	GRCh37	1	14108238	14108238	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	74	0	ENST00000235372.7:c.3948A>T	p.Thr1316=	p.T1316=	ENST00000235372	NM_012231.4	1316	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS150.1	3948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACAGCCAC	NONE	.	.	PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4	.	.	ENSP00000235372	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,synonymous_variant,p.%3D,ENST00000343137,;PRDM2,synonymous_variant,p.%3D,ENST00000413440,;PRDM2,synonymous_variant,p.%3D,ENST00000311066,;PRDM2,synonymous_variant,p.%3D,ENST00000235372,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000376048,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,intron_variant,,ENST00000491134,;	4804	74	78	SUCCESS
SF3B4	10262	.	GRCh37	1	149898428	149898428	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	23	85	0	ENST00000271628.8:c.546C>T	p.Ser182=	p.S182=	ENST00000271628	NM_005850.4	182	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS941.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGGAGTC	NONE	.	.	hmmpanther:PTHR24011,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000271628	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000271628	Transcript	.	.	ENSG00000143368	10771	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SF3B4_HUMAN	SF3B4	HGNC	Q5SZ64_HUMAN	.	UPI0000135472	SNV	SF3B4,synonymous_variant,p.%3D,ENST00000457312,;SF3B4,synonymous_variant,p.%3D,ENST00000271628,;MTMR11,downstream_gene_variant,,ENST00000406732,;MTMR11,downstream_gene_variant,,ENST00000369140,;MTMR11,downstream_gene_variant,,ENST00000361405,;MTMR11,downstream_gene_variant,,ENST00000439741,;MTMR11,downstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,downstream_gene_variant,,ENST00000482343,;	1131	85	129	SUCCESS
MRPS21	54460	.	GRCh37	1	150266814	150266814	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs376189902	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	24	174	0	ENST00000369084.5:c.28A>T	p.Arg10Trp	p.R10W	ENST00000369084	NM_018997.3	10	Agg/Tgg	0	G:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS950.1	28	MUTECT|MUSE|VARSCANS	.	TCGCCAGGACT	NONE	byCluster	.	HAMAP:MF_00358,hmmpanther:PTHR21109,TIGRFAM_domain:TIGR00030	.	G:0.0001	ENSP00000358080	.	1/2	.	.	.	.	.	.	.	.	rs376189902	1/2	PASS	ENST00000369084	Transcript	.	.	ENSG00000187145	14046	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.452)	.	.	.	RT21_HUMAN	MRPS21	HGNC	.	.	UPI0000135297	SNV	MRPS21,missense_variant,p.Arg10Trp,ENST00000369084,;MRPS21,missense_variant,p.Arg10Trp,ENST00000309092,;	475	174	272	SUCCESS
HORMAD1	84072	.	GRCh37	1	150676627	150676627	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	23	136	0	ENST00000361824.2:c.915del	p.Glu306LysfsTer15	p.E306Kfs*15	ENST00000361824	NM_032132.4	305	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS967.1	915	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTTCTTTAGA	NONE	.	.	hmmpanther:PTHR21518:SF4,hmmpanther:PTHR21518	.	.	ENSP00000355167	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	deletion	HORMAD1,frameshift_variant,p.Glu306LysfsTer15,ENST00000361824,;HORMAD1,frameshift_variant,p.Glu306LysfsTer15,ENST00000368993,;HORMAD1,frameshift_variant,p.Glu299LysfsTer15,ENST00000322343,;HORMAD1,frameshift_variant,p.Glu226LysfsTer15,ENST00000368995,;HORMAD1,downstream_gene_variant,,ENST00000442853,;HORMAD1,downstream_gene_variant,,ENST00000368987,;RNU6-1042P,downstream_gene_variant,,ENST00000384204,;HORMAD1,non_coding_transcript_exon_variant,,ENST00000470397,;HORMAD1,non_coding_transcript_exon_variant,,ENST00000486497,;	1021	136	163	SUCCESS
FLG	2312	.	GRCh37	1	152284916	152284916	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs769144771	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	34	116	0	ENST00000368799.1:c.2446G>C	p.Val816Leu	p.V816L	ENST00000368799	NM_002016.1	816	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS30860.1	2446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACTCCAG	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs769144771	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Val816Leu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	2482	116	137	SUCCESS
FLG	2312	.	GRCh37	1	152284917	152284917	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	36	114	0	ENST00000368799.1:c.2445A>T	p.Gly815=	p.G815=	ENST00000368799	NM_002016.1	815	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30860.1	2445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTCCAGT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	2481	114	139	SUCCESS
FLG2	388698	.	GRCh37	1	152326656	152326656	+	synonymous_variant	Silent	SNP	G	G	T	rs1360655927	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	91	0	ENST00000388718.5:c.3606C>A	p.Ser1202=	p.S1202=	ENST00000388718	NM_001014342.2	1202	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30861.1	3606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	3679	91	117	SUCCESS
SPRR4	163778	.	GRCh37	1	152944448	152944448	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	63	159	0	ENST00000328051.2:c.82C>T	p.Gln28Ter	p.Q28*	ENST00000328051	NM_173080.1	28	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS1031.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTCAGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF19,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000332163	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328051	Transcript	.	.	ENSG00000184148	23173	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPRR4_HUMAN	SPRR4	HGNC	.	.	UPI000006D059	SNV	SPRR4,stop_gained,p.Gln28Ter,ENST00000328051,;	131	159	222	SUCCESS
AQP10	89872	.	GRCh37	1	154296109	154296109	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	94	0	ENST00000324978.3:c.534G>C	p.Leu178=	p.L178=	ENST00000324978	NM_080429.2	178	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1065.1	534	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTGGACAG	BUFFER|p.R181W|c.541C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR02022,Prints_domain:PR00783	.	.	ENSP00000318355	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000324978	Transcript	.	.	ENSG00000143595	16029	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AQP10_HUMAN	AQP10	HGNC	.	.	UPI000007028A	SNV	AQP10,synonymous_variant,p.%3D,ENST00000324978,;AQP10,synonymous_variant,p.%3D,ENST00000484864,;ATP8B2,upstream_gene_variant,,ENST00000368487,;ATP8B2,upstream_gene_variant,,ENST00000368489,;AQP10,non_coding_transcript_exon_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	574	94	102	SUCCESS
ADAR	103	.	GRCh37	1	154569745	154569745	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	60	0	ENST00000368474.4:c.1935-2A>G		p.X645_splice	ENST00000368474	NM_001111.4	645		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1071.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTGACAG	NONE	.	.	.	.	.	ENSP00000357459	.	.	.	.	.	.	.	.	.	.	CS090036	.	PASS	ENST00000368474	Transcript	.	.	ENSG00000160710	225	.	.	HIGH	4/14	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	DSRAD_HUMAN	ADAR	HGNC	.	.	UPI000045626B	SNV	ADAR,splice_acceptor_variant,,ENST00000292205,;ADAR,splice_acceptor_variant,,ENST00000529168,;ADAR,splice_acceptor_variant,,ENST00000368474,;ADAR,splice_acceptor_variant,,ENST00000368471,;ADAR,downstream_gene_variant,,ENST00000471068,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,downstream_gene_variant,,ENST00000494866,;ADAR,downstream_gene_variant,,ENST00000463920,;	.	60	75	SUCCESS
ATP1A2	477	.	GRCh37	1	160098468	160098468	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	29	97	0	ENST00000361216.3:c.1044C>A	p.Arg348=	p.R348=	ENST00000361216	NM_000702.3	348	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1196.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGCATGGC	NONE	.	.	hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00122,Superfamily_domains:0049473	.	.	ENSP00000354490	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,synonymous_variant,p.%3D,ENST00000361216,;ATP1A2,synonymous_variant,p.%3D,ENST00000392233,;ATP1A2,synonymous_variant,p.%3D,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;	1133	97	145	SUCCESS
RCSD1	92241	.	GRCh37	1	167659345	167659345	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	90	0	ENST00000367854.3:c.258T>A	p.Ile86=	p.I86=	ENST00000367854	NM_052862.3	86	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS1263.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATTGAGAA	NONE	.	.	hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2,Pfam_domain:PF15255	.	.	ENSP00000356828	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000367854	Transcript	.	.	ENSG00000198771	28310	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPZIP_HUMAN	RCSD1	HGNC	.	.	UPI0000204CFA	SNV	RCSD1,synonymous_variant,p.%3D,ENST00000537350,;RCSD1,synonymous_variant,p.%3D,ENST00000367854,;RCSD1,intron_variant,,ENST00000361496,;	589	90	107	SUCCESS
GPR161	23432	.	GRCh37	1	168054803	168054803	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	61	81	0	ENST00000367835.1:c.1556A>C	p.Glu519Ala	p.E519A	ENST00000367835	NM_001267610.1	519	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS58043.1	1616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCGATG	NONE	.	.	.	.	.	ENSP00000441039	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000537209	Transcript	.	.	ENSG00000143147	23694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.02)	.	GP161_HUMAN	GPR161	HGNC	.	.	UPI0002065201	SNV	GPR161,missense_variant,p.Glu519Ala,ENST00000367835,;GPR161,missense_variant,p.Glu519Ala,ENST00000271357,;GPR161,missense_variant,p.Glu441Ala,ENST00000539777,;GPR161,missense_variant,p.Glu405Ala,ENST00000546300,;GPR161,missense_variant,p.Glu387Ala,ENST00000367836,;GPR161,missense_variant,p.Glu519Ala,ENST00000361697,;GPR161,missense_variant,p.Glu519Ala,ENST00000367838,;GPR161,missense_variant,p.Glu539Ala,ENST00000537209,;GPR161,non_coding_transcript_exon_variant,,ENST00000478868,;GPR161,downstream_gene_variant,,ENST00000493800,;	1865	81	126	SUCCESS
BRINP2	57795	.	GRCh37	1	177250137	177250137	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	64	0	ENST00000361539.4:c.1825A>C	p.Ser609Arg	p.S609R	ENST00000361539	NM_021165.2	609	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS1320.1	1825	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCAGCTTT	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	deleterious(0.02)	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Ser609Arg,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	2137	64	83	SUCCESS
ASPM	259266	.	GRCh37	1	197102525	197102525	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	57	108	0	ENST00000367409.4:c.2374A>T	p.Arg792Trp	p.R792W	ENST00000367409	NM_018136.4	792	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1389.1	2374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCTAGCTT	NONE	.	.	hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069,Superfamily_domains:SSF47576	.	.	ENSP00000356379	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Arg792Trp,ENST00000367409,;ASPM,missense_variant,p.Arg42Trp,ENST00000367408,;ASPM,missense_variant,p.Arg792Trp,ENST00000294732,;	2631	108	158	SUCCESS
NAV1	89796	.	GRCh37	1	201757764	201757764	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	35	0	ENST00000367296.4:c.3164A>G	p.Asp1055Gly	p.D1055G	ENST00000367296	NM_020443.4	1055	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1414.2	3164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGATGGTG	NONE	.	.	hmmpanther:PTHR12784:SF3,hmmpanther:PTHR12784	.	.	ENSP00000356265	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000367296	Transcript	.	.	ENSG00000134369	15989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.318)	.	deleterious(0.02)	.	NAV1_HUMAN	NAV1	HGNC	.	.	UPI00004562D4	SNV	NAV1,missense_variant,p.Asp1055Gly,ENST00000367297,;NAV1,missense_variant,p.Asp1055Gly,ENST00000295624,;NAV1,missense_variant,p.Asp613Gly,ENST00000430015,;NAV1,missense_variant,p.Asp1055Gly,ENST00000367296,;NAV1,missense_variant,p.Asp664Gly,ENST00000367295,;NAV1,intron_variant,,ENST00000438083,;NAV1,intron_variant,,ENST00000367300,;NAV1,intron_variant,,ENST00000367302,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,splice_region_variant,,ENST00000490213,;NAV1,splice_region_variant,,ENST00000469130,;NAV1,splice_region_variant,,ENST00000477118,;	3584	35	43	SUCCESS
TMEM183A	92703	.	GRCh37	1	202987649	202987649	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	112	229	0	ENST00000367242.3:c.749A>C	p.Gln250Pro	p.Q250P	ENST00000367242	NM_138391.4	250	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1432.1	749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACAGGAAC	NONE	.	.	hmmpanther:PTHR20988,hmmpanther:PTHR20988:SF2	.	.	ENSP00000356211	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000367242	Transcript	.	.	ENSG00000163444	20173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.35)	.	T183A_HUMAN	TMEM183A	HGNC	B4DLZ3_HUMAN	.	UPI00000715EE	SNV	TMEM183A,missense_variant,p.Gln250Pro,ENST00000367242,;TMEM183A,downstream_gene_variant,,ENST00000468449,;TMEM183A,non_coding_transcript_exon_variant,,ENST00000488097,;TMEM183A,downstream_gene_variant,,ENST00000463015,;TMEM183A,downstream_gene_variant,,ENST00000543891,;	829	229	275	SUCCESS
PPFIA4	8497	.	GRCh37	1	203014634	203014634	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	51	147	1	ENST00000447715.2:c.805G>T	p.Asp269Tyr	p.D269Y	ENST00000447715		269	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	.	.	805	RADIA|MUTECT	.	GCCGGGACCTC	NONE	.	.	hmmpanther:PTHR12587:SF5,hmmpanther:PTHR12587,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000356209	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000367240	Transcript	.	.	ENSG00000143847	9248	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	.	PPFIA4	HGNC	B1APN9_HUMAN	.	UPI0001881B39	SNV	PPFIA4,missense_variant,p.Asp269Tyr,ENST00000367240,;PPFIA4,missense_variant,p.Asp15Tyr,ENST00000600426,;PPFIA4,missense_variant,p.Asp269Tyr,ENST00000447715,;PPFIA4,5_prime_UTR_variant,,ENST00000414050,;PPFIA4,5_prime_UTR_variant,,ENST00000295706,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000601609,;	1332	148	175	SUCCESS
CR2	1380	.	GRCh37	1	207649619	207649619	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	57	73	0	ENST00000367058.3:c.2580G>T	p.Gly860=	p.G860=	ENST00000367058	NM_001877.4	860	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31007.1	2757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGGGAACCA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,synonymous_variant,p.%3D,ENST00000458541,;CR2,synonymous_variant,p.%3D,ENST00000367057,;CR2,synonymous_variant,p.%3D,ENST00000367058,;CR2,intron_variant,,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000475194,;	2946	73	106	SUCCESS
CR2	1380	.	GRCh37	1	207649620	207649620	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	58	73	0	ENST00000367058.3:c.2581A>C	p.Asn861His	p.N861H	ENST00000367058	NM_001877.4	861	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS31007.1	2758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGAACCAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	tolerated(0.56)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Asn834His,ENST00000458541,;CR2,missense_variant,p.Asn920His,ENST00000367057,;CR2,missense_variant,p.Asn861His,ENST00000367058,;CR2,intron_variant,,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000475194,;	2947	73	108	SUCCESS
TMEM206	0	.	GRCh37	1	212558622	212558622	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780645684	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	46	203	0	ENST00000535273.1:c.672G>T	p.Gln224His	p.Q224H	ENST00000535273	NM_001198862.1	224	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS55687.1	672	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCTGATT	NONE	.	.	hmmpanther:PTHR16087:SF0,hmmpanther:PTHR16087,Pfam_domain:PF15122	.	.	ENSP00000438863	.	5/9	.	.	.	.	.	.	.	.	rs780645684	5/9	PASS	ENST00000535273	Transcript	.	.	ENSG00000065600	25593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated(0.18)	.	TM206_HUMAN	TMEM206	HGNC	B4DHQ5_HUMAN	.	UPI0001914DBE	SNV	TMEM206,missense_variant,p.Gln163His,ENST00000261455,;TMEM206,missense_variant,p.Gln224His,ENST00000535273,;TMEM206,non_coding_transcript_exon_variant,,ENST00000471937,;TMEM206,non_coding_transcript_exon_variant,,ENST00000467822,;	816	203	286	SUCCESS
PTPN14	5784	.	GRCh37	1	214537999	214537999	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	31	129	0	ENST00000366956.5:c.3291G>T	p.Gln1097His	p.Q1097H	ENST00000366956	NM_005401.4	1097	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1514.1	3291	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGACTGGAT	NONE	.	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000934,SMART_domains:SM00194,SMART_domains:SM00404,Gene3D:3.90.190.10,Pfam_domain:PF00102,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056	.	.	ENSP00000355923	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Gln1097His,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	3486	129	202	SUCCESS
OBSCN	84033	.	GRCh37	1	228550304	228550304	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	94	180	0	ENST00000422127.1:c.18689A>C	p.Glu6230Ala	p.E6230A	ENST00000422127	NM_001098623.2	6230	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS59204.1	21560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGAGGTCA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	91/116	.	.	.	.	.	.	.	.	.	91/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Glu3864Ala,ENST00000366707,;OBSCN,missense_variant,p.Glu847Ala,ENST00000441106,;OBSCN,missense_variant,p.Glu6230Ala,ENST00000422127,;OBSCN,missense_variant,p.Glu7187Ala,ENST00000570156,;OBSCN,downstream_gene_variant,,ENST00000366709,;OBSCN,downstream_gene_variant,,ENST00000284548,;OBSCN,downstream_gene_variant,,ENST00000474237,;	21634	180	256	SUCCESS
EPHA8	2046	.	GRCh37	1	22895781	22895781	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	58	0	ENST00000166244.3:c.95-1G>A		p.X32_splice	ENST00000166244	NM_020526.3	32		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS225.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGTGAAT	NONE	.	.	.	.	.	ENSP00000166244	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	HIGH	1/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,splice_acceptor_variant,,ENST00000374644,;EPHA8,splice_acceptor_variant,,ENST00000538803,;EPHA8,splice_acceptor_variant,,ENST00000166244,;	.	58	52	SUCCESS
ASAP3	55616	.	GRCh37	1	23762387	23762387	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	109	0	ENST00000336689.3:c.1706A>C	p.Asn569Thr	p.N569T	ENST00000336689	NM_017707.3	569	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS235.1	1706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCATTGGCA	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF211,Superfamily_domains:SSF48403	.	.	ENSP00000338769	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000336689	Transcript	.	.	ENSG00000088280	14987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0)	.	ASAP3_HUMAN	ASAP3	HGNC	H0YER8_HUMAN	.	UPI0000071371	SNV	ASAP3,missense_variant,p.Asn560Thr,ENST00000437606,;ASAP3,missense_variant,p.Asn569Thr,ENST00000336689,;ASAP3,missense_variant,p.Asn73Thr,ENST00000495646,;ASAP3,upstream_gene_variant,,ENST00000465372,;ASAP3,missense_variant,p.Asn97Thr,ENST00000484418,;ASAP3,3_prime_UTR_variant,,ENST00000492982,;ASAP3,downstream_gene_variant,,ENST00000530874,;ASAP3,downstream_gene_variant,,ENST00000475814,;	1751	109	108	SUCCESS
KIF26B	55083	.	GRCh37	1	245850812	245850812	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	110	149	0	ENST00000407071.2:c.4527C>A	p.Val1509=	p.V1509=	ENST00000407071	NM_018012.3	1509	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44342.1	4527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCGTGGA	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;KIF26B,downstream_gene_variant,,ENST00000483253,;	4967	149	199	SUCCESS
GPR3	2827	.	GRCh37	1	27720703	27720703	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs372066479	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	37	0	ENST00000374024.3:c.401G>C	p.Arg134Pro	p.R134P	ENST00000374024	NM_005281.3	134	cGc/cCc	0	A:0	.	.	.	.	C	R/P	protein_coding	YES	CCDS303.1	401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCGCTACC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF39,hmmpanther:PTHR22750,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0001	ENSP00000363136	.	2/2	.	.	.	.	.	.	.	.	rs372066479,COSM4031120	2/2	PASS	ENST00000374024	Transcript	.	.	ENSG00000181773	4484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	GPR3_HUMAN	GPR3	HGNC	F1DAM5_HUMAN	.	UPI0000001624	SNV	GPR3,missense_variant,p.Arg134Pro,ENST00000374024,;RP1-144C9.2,downstream_gene_variant,,ENST00000443746,;	500	37	29	SUCCESS
SPOCD1	90853	.	GRCh37	1	32265012	32265012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	99	177	0	ENST00000360482.2:c.1858C>A	p.Leu620Ile	p.L620I	ENST00000360482	NM_144569.4	620	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS347.1	1858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATAGTACCT	NONE	.	.	Superfamily_domains:0037100,SMART_domains:SM00510,Pfam_domain:PF07500,Gene3D:1enwA00,hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914,PROSITE_profiles:PS51321	.	.	ENSP00000353670	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000360482	Transcript	.	.	ENSG00000134668	26338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.247)	.	deleterious(0.01)	.	SPOC1_HUMAN	SPOCD1	HGNC	E9PMX0_HUMAN,E9PKC3_HUMAN	.	UPI000035E7DD	SNV	SPOCD1,missense_variant,p.Leu41Ile,ENST00000529396,;SPOCD1,missense_variant,p.Leu113Ile,ENST00000257100,;SPOCD1,missense_variant,p.Leu620Ile,ENST00000360482,;SPOCD1,missense_variant,p.Leu620Ile,ENST00000533231,;SPOCD1,intron_variant,,ENST00000373648,;SPOCD1,upstream_gene_variant,,ENST00000452755,;SPOCD1,upstream_gene_variant,,ENST00000528579,;SPOCD1,downstream_gene_variant,,ENST00000525930,;SPOCD1,downstream_gene_variant,,ENST00000528791,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000531039,;SPOCD1,intron_variant,,ENST00000485944,;SPOCD1,upstream_gene_variant,,ENST00000473361,;SPOCD1,upstream_gene_variant,,ENST00000460061,;SPOCD1,upstream_gene_variant,,ENST00000532604,;SPOCD1,upstream_gene_variant,,ENST00000468720,;	1988	177	214	SUCCESS
ZBTB8B	728116	.	GRCh37	1	32950917	32950917	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	32	100	0	ENST00000609129.1:c.1386A>C	p.Pro462=	p.P462=	ENST00000609129	NM_001145720.1	462	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44104.1	1386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAATCTA	NONE	.	.	hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF26	.	.	ENSP00000476499	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000609129	Transcript	.	.	ENSG00000273274	37057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT8B_HUMAN	ZBTB8B	HGNC	.	.	UPI000195170E	SNV	ZBTB8B,synonymous_variant,p.%3D,ENST00000609129,;RP1-27O5.3,synonymous_variant,p.%3D,ENST00000480336,;	1464	100	141	SUCCESS
AGO3	192669	.	GRCh37	1	36439043	36439043	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	23	99	0	ENST00000373191.4:c.589A>T	p.Arg197Trp	p.R197W	ENST00000373191	NM_024852.3	197	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS399.1	589	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCAGGGAA	NONE	.	.	HAMAP:MF_03032,hmmpanther:PTHR22891:SF3,hmmpanther:PTHR22891,Pfam_domain:PF08699	.	.	ENSP00000362287	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000373191	Transcript	.	.	ENSG00000126070	18421	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	AGO3_HUMAN	AGO3	HGNC	B4DY67_HUMAN	.	UPI0000141361	SNV	AGO3,missense_variant,p.Arg197Trp,ENST00000397828,;AGO3,missense_variant,p.Arg197Trp,ENST00000373191,;AGO3,missense_variant,p.Arg197Trp,ENST00000324350,;AGO3,intron_variant,,ENST00000246314,;AGO3,non_coding_transcript_exon_variant,,ENST00000491443,;	938	99	159	SUCCESS
SMAP2	64744	.	GRCh37	1	40882562	40882562	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1476155950	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	37	192	0	ENST00000372718.3:c.958A>G	p.Met320Val	p.M320V	ENST00000372718	NM_022733.2	320	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS451.1	958	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCATGGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF29,hmmpanther:PTHR23180	.	.	ENSP00000361803	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000372718	Transcript	.	.	ENSG00000084070	25082	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.62)	.	SMAP2_HUMAN	SMAP2	HGNC	B7Z2F9_HUMAN	.	UPI000006DD04	SNV	SMAP2,missense_variant,p.Met320Val,ENST00000372718,;SMAP2,missense_variant,p.Met290Val,ENST00000372708,;SMAP2,missense_variant,p.Met240Val,ENST00000539317,;SMAP2,downstream_gene_variant,,ENST00000435168,;SMAP2,downstream_gene_variant,,ENST00000487871,;	1382	192	252	SUCCESS
CCDC30	728621	.	GRCh37	1	43110399	43110399	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	21	0	ENST00000340612.4:c.1811A>T	p.Gln604Leu	p.Q604L	ENST00000340612		604	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS30690.1	1811	RADIA|MUSE	.	ATTACAGGAAA	NONE	.	.	.	.	.	ENSP00000397035	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000428554	Transcript	.	.	ENSG00000186409	26103	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.148)	.	deleterious(0.03)	.	CCD30_HUMAN	CCDC30	HGNC	D6RFH8_HUMAN	.	UPI0000458A0B	SNV	CCDC30,missense_variant,p.Gln393Leu,ENST00000390640,;CCDC30,missense_variant,p.Gln393Leu,ENST00000507855,;CCDC30,missense_variant,p.Gln604Leu,ENST00000428554,;CCDC30,missense_variant,p.Gln604Leu,ENST00000340612,;CCDC30,missense_variant,p.Gln604Leu,ENST00000342022,;CCDC30,missense_variant,p.Gln302Leu,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;	2954	21	30	SUCCESS
ST3GAL3	6487	.	GRCh37	1	44395833	44395833	+	synonymous_variant	Silent	SNP	A	A	G	rs1015506821	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	52	0	ENST00000361392.4:c.1068A>G	p.Lys356=	p.K356=	ENST00000361392	NM_006279.3	356	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS493.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAGAGTT	NONE	.	.	hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF6,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000262915	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000262915	Transcript	.	.	ENSG00000126091	10866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAT6_HUMAN	ST3GAL3	HGNC	.	.	UPI000007440A	SNV	ST3GAL3,missense_variant,p.Arg158Gly,ENST00000361812,;ST3GAL3,missense_variant,p.Arg143Gly,ENST00000372362,;ST3GAL3,missense_variant,p.Arg158Gly,ENST00000545417,;ST3GAL3,missense_variant,p.Lys195Arg,ENST00000372367,;ST3GAL3,missense_variant,p.Lys180Arg,ENST00000528371,;ST3GAL3,missense_variant,p.Arg127Gly,ENST00000531451,;ST3GAL3,missense_variant,p.Lys193Arg,ENST00000490502,;ST3GAL3,missense_variant,p.Lys95Arg,ENST00000531816,;ST3GAL3,missense_variant,p.Arg143Gly,ENST00000330208,;ST3GAL3,synonymous_variant,p.%3D,ENST00000533933,;ST3GAL3,synonymous_variant,p.%3D,ENST00000353126,;ST3GAL3,synonymous_variant,p.%3D,ENST00000372375,;ST3GAL3,synonymous_variant,p.%3D,ENST00000361746,;ST3GAL3,synonymous_variant,p.%3D,ENST00000372374,;ST3GAL3,synonymous_variant,p.%3D,ENST00000372372,;ST3GAL3,synonymous_variant,p.%3D,ENST00000372368,;ST3GAL3,synonymous_variant,p.%3D,ENST00000372369,;ST3GAL3,synonymous_variant,p.%3D,ENST00000332628,;ST3GAL3,synonymous_variant,p.%3D,ENST00000347631,;ST3GAL3,synonymous_variant,p.%3D,ENST00000351035,;ST3GAL3,synonymous_variant,p.%3D,ENST00000262915,;ST3GAL3,synonymous_variant,p.%3D,ENST00000361400,;ST3GAL3,synonymous_variant,p.%3D,ENST00000531993,;ST3GAL3,synonymous_variant,p.%3D,ENST00000361392,;ST3GAL3,3_prime_UTR_variant,,ENST00000372366,;ST3GAL3,3_prime_UTR_variant,,ENST00000372377,;ST3GAL3,3_prime_UTR_variant,,ENST00000372365,;ST3GAL3,3_prime_UTR_variant,,ENST00000335430,;ARTN,upstream_gene_variant,,ENST00000472435,;ARTN,upstream_gene_variant,,ENST00000471394,;ARTN,upstream_gene_variant,,ENST00000477048,;ARTN,upstream_gene_variant,,ENST00000491846,;ARTN,upstream_gene_variant,,ENST00000479128,;ARTN,upstream_gene_variant,,ENST00000498139,;ARTN,upstream_gene_variant,,ENST00000414809,;ARTN,upstream_gene_variant,,ENST00000474592,;ARTN,upstream_gene_variant,,ENST00000372359,;ST3GAL3,3_prime_UTR_variant,,ENST00000469715,;ST3GAL3,3_prime_UTR_variant,,ENST00000533997,;ST3GAL3,3_prime_UTR_variant,,ENST00000530581,;ST3GAL3,3_prime_UTR_variant,,ENST00000490541,;ST3GAL3,3_prime_UTR_variant,,ENST00000533212,;ST3GAL3,3_prime_UTR_variant,,ENST00000489897,;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000495482,;	1452	52	57	SUCCESS
DMRTB1	63948	.	GRCh37	1	53932266	53932266	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	102	191	0	ENST00000371445.3:c.962-2A>T		p.X321_splice	ENST00000371445	NM_033067.1	321		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS581.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACAGATGA	NONE	.	.	.	.	.	ENSP00000360500	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371445	Transcript	.	.	ENSG00000143006	13913	.	.	HIGH	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMRTB_HUMAN	DMRTB1	HGNC	I6L9A0_HUMAN	.	UPI000006FF4C	SNV	DMRTB1,splice_acceptor_variant,,ENST00000371445,;DMRTB1,downstream_gene_variant,,ENST00000463126,;	.	191	213	SUCCESS
YIPF1	54432	.	GRCh37	1	54332055	54332055	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	126	269	0	ENST00000072644.1:c.649A>G	p.Ile217Val	p.I217V	ENST00000072644	NM_018982.4	217	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS584.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTATCTGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12822:SF4,hmmpanther:PTHR12822,Pfam_domain:PF04893	.	.	ENSP00000072644	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000072644	Transcript	.	.	ENSG00000058799	25231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	YIPF1_HUMAN	YIPF1	HGNC	.	.	UPI000006FF6D	SNV	YIPF1,missense_variant,p.Ile217Val,ENST00000072644,;YIPF1,missense_variant,p.Ile242Val,ENST00000539954,;YIPF1,missense_variant,p.Ile34Val,ENST00000371399,;YIPF1,downstream_gene_variant,,ENST00000412288,;YIPF1,splice_region_variant,,ENST00000469457,;YIPF1,splice_region_variant,,ENST00000480151,;YIPF1,downstream_gene_variant,,ENST00000465897,;YIPF1,missense_variant,p.Ile217Val,ENST00000464950,;	986	269	293	SUCCESS
CHD5	26038	.	GRCh37	1	6206301	6206301	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	54	0	ENST00000262450.3:c.1773G>A	p.Trp591Ter	p.W591*	ENST00000262450	NM_015557.2	591	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS57.1	1773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCCACTC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160	.	.	ENSP00000262450	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,stop_gained,p.Trp591Ter,ENST00000262450,;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,stop_gained,p.Trp591Ter,ENST00000496404,;CHD5,upstream_gene_variant,,ENST00000462991,;	1873	54	71	SUCCESS
ELTD1	0	.	GRCh37	1	79411969	79411969	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	51	95	0	ENST00000370742.3:c.315C>A	p.Thr105=	p.T105=	ENST00000370742	NM_022159.3	105	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41352.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGTTCC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Gene3D:2.40.155.10,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000359778	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,synonymous_variant,p.%3D,ENST00000370742,;	379	95	122	SUCCESS
C1orf170	0	.	GRCh37	1	914384	914384	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	59	0	ENST00000433179.2:c.1744C>T	p.Pro582Ser	p.P582S	ENST00000433179		582	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	.	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGCCCCA	NONE	.	.	hmmpanther:PTHR21712:SF30,hmmpanther:PTHR21712	.	.	ENSP00000414022	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000433179	Transcript	.	.	ENSG00000187642	28208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.16)	.	CA170_HUMAN	C1orf170	HGNC	.	.	UPI0000418FB0	SNV	C1orf170,missense_variant,p.Pro562Ser,ENST00000341290,;C1orf170,missense_variant,p.Pro582Ser,ENST00000433179,;PLEKHN1,downstream_gene_variant,,ENST00000491024,;PLEKHN1,downstream_gene_variant,,ENST00000379409,;PLEKHN1,downstream_gene_variant,,ENST00000379407,;PLEKHN1,downstream_gene_variant,,ENST00000379410,;C1orf170,upstream_gene_variant,,ENST00000479361,;	1744	59	75	SUCCESS
ABCA4	24	.	GRCh37	1	94543350	94543350	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	33	116	0	ENST00000370225.3:c.1450A>G	p.Lys484Glu	p.K484E	ENST00000370225	NM_000350.2	484	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS747.1	1450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTTGTAGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	11/50	.	.	.	.	.	.	.	.	COSM318423	11/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.2)	1	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Lys484Glu,ENST00000370225,;ABCA4,missense_variant,p.Lys484Glu,ENST00000535735,;	1537	116	119	SUCCESS
PTBP2	58155	.	GRCh37	1	97271990	97271990	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	52	0	ENST00000426398.2:c.1060A>G	p.Ser354Gly	p.S354G	ENST00000426398	NM_021190.2	354	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS754.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAAGTCTG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR11546:SF21,hmmpanther:PTHR11546,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01649,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000412788	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000426398	Transcript	.	.	ENSG00000117569	17662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(0.62)	.	PTBP2_HUMAN	PTBP2	HGNC	.	.	UPI000006F5BE	SNV	PTBP2,missense_variant,p.Ser354Gly,ENST00000426398,;PTBP2,missense_variant,p.Ser359Gly,ENST00000370198,;PTBP2,missense_variant,p.Ser370Gly,ENST00000394184,;PTBP2,missense_variant,p.Ser359Gly,ENST00000370197,;PTBP2,missense_variant,p.Ser354Gly,ENST00000609116,;PTBP2,intron_variant,,ENST00000541987,;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,;PTBP2,non_coding_transcript_exon_variant,,ENST00000459735,;PTBP2,intron_variant,,ENST00000476419,;PTBP2,intron_variant,,ENST00000476783,;PTBP2,intron_variant,,ENST00000492905,;PTBP2,upstream_gene_variant,,ENST00000462433,;	1103	52	60	SUCCESS
PTPRA	5786	.	GRCh37	20	2987988	2987988	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	47	0	ENST00000380393.3:c.830-2A>T		p.X277_splice	ENST00000380393	NM_002836.3	277		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13038.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTAGATGA	NONE	.	.	.	.	.	ENSP00000369756	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380393	Transcript	.	.	ENSG00000132670	9664	.	.	HIGH	14/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRA_HUMAN	PTPRA	HGNC	Q5JWG3_HUMAN,Q5JWG2_HUMAN	.	UPI000007155E	SNV	PTPRA,splice_acceptor_variant,,ENST00000216877,;PTPRA,splice_acceptor_variant,,ENST00000356147,;PTPRA,splice_acceptor_variant,,ENST00000425918,;PTPRA,splice_acceptor_variant,,ENST00000399903,;PTPRA,splice_acceptor_variant,,ENST00000358719,;PTPRA,splice_acceptor_variant,,ENST00000380393,;PTPRA,splice_acceptor_variant,,ENST00000318266,;PTPRA,downstream_gene_variant,,ENST00000455631,;	.	47	36	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3674260	3674260	+	synonymous_variant	Silent	SNP	C	C	A	rs769459794	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	51	0	ENST00000344754.4:c.3342G>T	p.Pro1114=	p.P1114=	ENST00000344754	NM_023068.3	1114	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13060.1	3342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCGGGTG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	13/21	.	.	.	.	.	.	.	.	rs769459794	13/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,synonymous_variant,p.%3D,ENST00000344754,;SIGLEC1,synonymous_variant,p.%3D,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	3342	51	33	SUCCESS
TNNC2	7125	.	GRCh37	20	44453043	44453043	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	17	37	0	ENST00000372555.3:c.202A>C	p.Ser68Arg	p.S68R	ENST00000372555	NM_003279.2	68	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS13375.1	202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTGCCTG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23064,hmmpanther:PTHR23064:SF2,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13833,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000361636	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000372555	Transcript	.	.	ENSG00000101470	11944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TNNC2_HUMAN	TNNC2	HGNC	Q6FH92_HUMAN,C9J7T9_HUMAN	.	UPI000014A6DB	SNV	TNNC2,missense_variant,p.Ser68Arg,ENST00000372555,;TNNC2,missense_variant,p.Ser53Arg,ENST00000372557,;	295	37	29	SUCCESS
ZNF334	55713	.	GRCh37	20	45130957	45130957	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	65	0	ENST00000347606.4:c.1021A>T	p.Arg341Trp	p.R341W	ENST00000347606	NM_018102.4	341	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS33480.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTGAAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000255129	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000347606	Transcript	.	.	ENSG00000198185	15806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	deleterious(0.02)	.	ZN334_HUMAN	ZNF334	HGNC	M0R3E1_HUMAN	.	UPI000004A0FE	SNV	ZNF334,missense_variant,p.Arg364Trp,ENST00000593880,;ZNF334,missense_variant,p.Arg341Trp,ENST00000347606,;ZNF334,missense_variant,p.Arg303Trp,ENST00000457685,;ZNF334,downstream_gene_variant,,ENST00000596323,;	1204	65	47	SUCCESS
PREX1	57580	.	GRCh37	20	47296240	47296240	+	synonymous_variant	Silent	SNP	G	G	A	rs760779791	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	75	0	ENST00000371941.3:c.1488C>T	p.Tyr496=	p.Y496=	ENST00000371941	NM_020820.3	496	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS13410.1	1488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCGTAGCG	NONE	byFrequency	.	PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:1.10.10.10,SMART_domains:SM00049,Superfamily_domains:SSF46785	.	.	ENSP00000361009	.	12/40	.	.	.	.	.	.	.	.	rs760779791	12/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,synonymous_variant,p.%3D,ENST00000396220,;PREX1,synonymous_variant,p.%3D,ENST00000371941,;	1511	75	78	SUCCESS
ATP9A	10079	.	GRCh37	20	50255968	50255968	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	16	138	0	ENST00000338821.5:c.1582A>G	p.Thr528Ala	p.T528A	ENST00000338821	NM_006045.1	528	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33489.1	1582	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGTCCTCA	NONE	.	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00702,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000342481	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.26)	.	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Thr528Ala,ENST00000338821,;ATP9A,missense_variant,p.Thr407Ala,ENST00000402822,;ATP9A,missense_variant,p.Thr392Ala,ENST00000311637,;	1847	138	128	SUCCESS
LAMA5	3911	.	GRCh37	20	60890246	60890246	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs983407158	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	41	0	ENST00000252999.3:c.7885A>G	p.Ile2629Val	p.I2629V	ENST00000252999	NM_005560.4	2629	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33502.1	7885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGATCTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574	.	.	ENSP00000252999	.	59/80	.	.	.	.	.	.	.	.	.	59/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Ile2629Val,ENST00000252999,;LAMA5,non_coding_transcript_exon_variant,,ENST00000471042,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000370691,;LAMA5,upstream_gene_variant,,ENST00000468786,;	7952	41	18	SUCCESS
DIDO1	11083	.	GRCh37	20	61512777	61512777	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	30	0	ENST00000266070.4:c.4531A>G	p.Met1511Val	p.M1511V	ENST00000266070	NM_033081.2	1511	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS33506.1	4531	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCATGGAGA	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Met1511Val,ENST00000266070,;DIDO1,missense_variant,p.Met1511Val,ENST00000395343,;	4857	30	30	SUCCESS
PRPF6	24148	.	GRCh37	20	62612637	62612637	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	60	99	0	ENST00000266079.4:c.39G>T	p.Ala13=	p.A13=	ENST00000266079	NM_012469.3	13	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13550.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGCCCCT	NONE	.	.	hmmpanther:PTHR11246:SF12,hmmpanther:PTHR11246,Pfam_domain:PF06424	.	.	ENSP00000266079	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000266079	Transcript	1	.	ENSG00000101161	15860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP6_HUMAN	PRPF6	HGNC	.	.	UPI0000132356	SNV	PRPF6,synonymous_variant,p.%3D,ENST00000266079,;PRPF6,synonymous_variant,p.%3D,ENST00000535781,;ZNF512B,intron_variant,,ENST00000217130,;ZNF512B,intron_variant,,ENST00000450537,;SAMD10,upstream_gene_variant,,ENST00000369886,;SAMD10,upstream_gene_variant,,ENST00000450107,;SAMD10,upstream_gene_variant,,ENST00000498830,;SAMD10,upstream_gene_variant,,ENST00000478694,;	150	99	102	SUCCESS
PLCB4	5332	.	GRCh37	20	9364907	9364907	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	77	0	ENST00000278655.4:c.913T>A	p.Phe305Ile	p.F305I	ENST00000278655	NM_182797.2	305	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS13104.1	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTTCCTA	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Pfam_domain:PF09279,Gene3D:1.10.238.10,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF47473	.	.	ENSP00000367762	.	11/36	.	.	.	.	.	.	.	.	.	11/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.04)	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Phe305Ile,ENST00000334005,;PLCB4,missense_variant,p.Phe305Ile,ENST00000414679,;PLCB4,missense_variant,p.Phe305Ile,ENST00000278655,;PLCB4,missense_variant,p.Phe305Ile,ENST00000378473,;PLCB4,missense_variant,p.Phe305Ile,ENST00000378493,;PLCB4,missense_variant,p.Phe305Ile,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	928	77	78	SUCCESS
LIPI	149998	.	GRCh37	21	15537598	15537598	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	98	0	ENST00000344577.2:c.910A>T	p.Thr304Ser	p.T304S	ENST00000344577	NM_198996.2	304	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS13564.1	910	RADIA|MUTECT|MUSE	.	GCTAGTCTTGT	NONE	.	.	hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000343331	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.25)	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,missense_variant,p.Thr283Ser,ENST00000536861,;LIPI,missense_variant,p.Thr304Ser,ENST00000344577,;LIPI,missense_variant,p.Thr133Ser,ENST00000400211,;	936	98	54	SUCCESS
LIPI	149998	.	GRCh37	21	15537634	15537634	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	34	97	0	ENST00000344577.2:c.874A>C	p.Ile292Leu	p.I292L	ENST00000344577	NM_198996.2	292	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS13564.1	874	RADIA|MUTECT|MUSE	.	TGAAATAAAAT	BUFFER|p.C289S|c.865T>A|9	.	.	hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000343331	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.097)	.	tolerated(0.09)	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,missense_variant,p.Ile271Leu,ENST00000536861,;LIPI,missense_variant,p.Ile292Leu,ENST00000344577,;LIPI,missense_variant,p.Ile121Leu,ENST00000400211,;	900	97	56	SUCCESS
ABCG1	9619	.	GRCh37	21	43646020	43646020	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	23	59	0	ENST00000361802.2:c.282G>T	p.Lys94Asn	p.K94N	ENST00000361802	NM_004915.3	94	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS13682.1	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGAAAGG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19241:SF177,hmmpanther:PTHR19241,TIGRFAM_domain:TIGR00955,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000354995	.	2/15	.	.	.	.	.	.	.	.	COSM3933959,COSM3933960	2/15	PASS	ENST00000361802	Transcript	.	.	ENSG00000160179	73	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.034)	.	tolerated(0.07)	1,1	ABCG1_HUMAN	ABCG1	HGNC	O43576_HUMAN	.	UPI0000125130	SNV	ABCG1,missense_variant,p.Lys96Asn,ENST00000398457,;ABCG1,missense_variant,p.Lys94Asn,ENST00000398449,;ABCG1,missense_variant,p.Lys94Asn,ENST00000450121,;ABCG1,missense_variant,p.Lys105Asn,ENST00000343687,;ABCG1,missense_variant,p.Lys94Asn,ENST00000361802,;ABCG1,missense_variant,p.Lys91Asn,ENST00000347800,;RNA5SP492,downstream_gene_variant,,ENST00000411330,;ABCG1,non_coding_transcript_exon_variant,,ENST00000462050,;	427	59	30	SUCCESS
MLC1	23209	.	GRCh37	22	50506909	50506909	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs774026753	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	26	94	0	ENST00000311597.5:c.847A>C	p.Ile283Leu	p.I283L	ENST00000311597	NM_015166.3	283	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS14083.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGATGCTGA	NONE	byFrequency	.	hmmpanther:PTHR17597	.	.	ENSP00000310375	.	10/12	.	.	.	.	.	.	.	.	rs774026753	10/12	PASS	ENST00000311597	Transcript	.	.	ENSG00000100427	17082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious_low_confidence(0.01)	.	MLC1_HUMAN	MLC1	HGNC	B7Z2T9_HUMAN	.	UPI000004AD09	SNV	MLC1,missense_variant,p.Ile283Leu,ENST00000311597,;MLC1,missense_variant,p.Ile231Leu,ENST00000450140,;MLC1,missense_variant,p.Ile204Leu,ENST00000535444,;MLC1,missense_variant,p.Ile283Leu,ENST00000395876,;MLC1,missense_variant,p.Ile253Leu,ENST00000431262,;MLC1,missense_variant,p.Ile249Leu,ENST00000538737,;MLC1,downstream_gene_variant,,ENST00000442311,;MLC1,non_coding_transcript_exon_variant,,ENST00000483836,;MLC1,downstream_gene_variant,,ENST00000470008,;	1454	94	40	SUCCESS
REV1	51455	.	GRCh37	2	100058804	100058804	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs963304534	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	91	0	ENST00000258428.3:c.478A>G	p.Ile160Val	p.I160V	ENST00000258428	NM_001037872.1	160	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2045.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTATATTGC	NONE	.	.	hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF13,PIRSF_domain:PIRSF036573	.	.	ENSP00000258428	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000258428	Transcript	.	.	ENSG00000135945	14060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.42)	.	REV1_HUMAN	REV1	HGNC	.	.	UPI0000073A14	SNV	REV1,missense_variant,p.Ile160Val,ENST00000258428,;REV1,missense_variant,p.Ile160Val,ENST00000393445,;REV1,upstream_gene_variant,,ENST00000450415,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,upstream_gene_variant,,ENST00000482887,;REV1,upstream_gene_variant,,ENST00000486117,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000473819,;REV1,upstream_gene_variant,,ENST00000491752,;	707	91	125	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105914979	105914979	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	77	0	ENST00000258449.1:c.872A>C	p.Gln291Pro	p.Q291P	ENST00000258449	NM_001142621.1	291	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2067.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTGTAGG	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16	.	.	ENSP00000377027	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	tolerated(0.14)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.Gln291Pro,ENST00000393359,;TGFBRAP1,missense_variant,p.Gln291Pro,ENST00000258449,;	1299	77	81	SUCCESS
RGPD8	727851	.	GRCh37	2	113180143	113180143	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	19	0	ENST00000302558.3:c.234A>G	p.Lys78=	p.K78=	ENST00000302558	NM_001164463.1	78	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS46394.1	234	RADIA|VARSCANS	.	ACGGCTTTCTC	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000306637	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000302558	Transcript	.	.	ENSG00000169629	9849	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGPD8_HUMAN	RGPD8	HGNC	I1Z9D1_HUMAN,C9J1P2_HUMAN	.	UPI000013E7F5	SNV	RGPD8,synonymous_variant,p.%3D,ENST00000302558,;RGPD8,synonymous_variant,p.%3D,ENST00000330575,;RGPD8,synonymous_variant,p.%3D,ENST00000409750,;RGPD8,synonymous_variant,p.%3D,ENST00000496537,;RGPD8,non_coding_transcript_exon_variant,,ENST00000471422,;RGPD8,upstream_gene_variant,,ENST00000522286,;	426	19	42	SUCCESS
IL36G	56300	.	GRCh37	2	113742493	113742493	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	40	106	0	ENST00000259205.4:c.377G>T	p.Arg126Met	p.R126M	ENST00000259205	NM_019618.3	126	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS2108.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTAGGACCT	NONE	.	.	hmmpanther:PTHR10078:SF14,hmmpanther:PTHR10078,Pfam_domain:PF00340,Gene3D:2.80.10.50,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR00264,Prints_domain:PR01360	.	.	ENSP00000259205	.	5/5	.	.	.	.	.	.	.	.	COSM1690918	5/5	PASS	ENST00000259205	Transcript	.	.	ENSG00000136688	15741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.962)	.	deleterious(0.01)	1	IL36G_HUMAN	IL36G	HGNC	C9J681_HUMAN	.	UPI0000038BF0	SNV	IL36G,missense_variant,p.Arg126Met,ENST00000259205,;IL36G,missense_variant,p.Arg91Met,ENST00000376489,;HMGN2P23,upstream_gene_variant,,ENST00000456759,;	446	106	177	SUCCESS
LRP1B	53353	.	GRCh37	2	141459798	141459798	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	58	154	0	ENST00000389484.3:c.6214G>T	p.Gly2072Ter	p.G2072*	ENST00000389484	NM_018557.2	2072	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS2182.1	6214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCAGTCT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	39/91	.	.	.	.	.	.	.	.	.	39/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,stop_gained,p.Gly2072Ter,ENST00000389484,;	7186	154	246	SUCCESS
NEB	4703	.	GRCh37	2	152512686	152512686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	89	0	ENST00000172853.10:c.6476T>C	p.Met2159Thr	p.M2159T	ENST00000172853		2159	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS54407.1	6476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCATATTC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	49/182	.	.	.	.	.	.	.	.	.	49/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Met2159Thr,ENST00000603639,;NEB,missense_variant,p.Met2159Thr,ENST00000172853,;NEB,missense_variant,p.Met2159Thr,ENST00000427231,;NEB,missense_variant,p.Met2159Thr,ENST00000397345,;NEB,missense_variant,p.Met2159Thr,ENST00000604864,;NEB,missense_variant,p.Met2159Thr,ENST00000409198,;	6679	89	101	SUCCESS
STK39	27347	.	GRCh37	2	169020389	169020389	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	79	0	ENST00000355999.4:c.432T>A		p.X144_splice	ENST00000355999	NM_013233.2	144	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42770.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAACCTAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000348278	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000355999	Transcript	.	.	ENSG00000198648	17717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK39_HUMAN	STK39	HGNC	.	.	UPI000013D46D	SNV	STK39,synonymous_variant,p.%3D,ENST00000355999,;	1138	79	86	SUCCESS
PDE11A	50940	.	GRCh37	2	178769916	178769916	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	rs767774556	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	37	0	ENST00000286063.6:c.1072-2A>T		p.X358_splice	ENST00000286063	NM_016953.3	358		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33334.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCTGGGAC	NONE	.	.	.	.	.	ENSP00000286063	.	.	.	.	.	.	.	.	.	.	rs767774556	.	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	HIGH	2/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,splice_acceptor_variant,,ENST00000358450,;PDE11A,splice_acceptor_variant,,ENST00000449286,;PDE11A,splice_acceptor_variant,,ENST00000409504,;PDE11A,splice_acceptor_variant,,ENST00000286063,;PDE11A,upstream_gene_variant,,ENST00000433879,;PDE11A,splice_acceptor_variant,,ENST00000497003,;PDE11A,splice_acceptor_variant,,ENST00000427127,;	.	37	54	SUCCESS
TTN	7273	.	GRCh37	2	179642164	179642164	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	33	47	0	ENST00000591111.1:c.4628T>A	p.Val1543Glu	p.V1543E	ENST00000591111		1543	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS59435.1	4628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCACTGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	26/363	.	.	.	.	.	.	.	.	.	26/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val1543Glu,ENST00000360870,;TTN,missense_variant,p.Val1497Glu,ENST00000359218,;TTN,missense_variant,p.Val1543Glu,ENST00000342992,;TTN,missense_variant,p.Val1497Glu,ENST00000342175,;TTN,missense_variant,p.Val1543Glu,ENST00000589042,;TTN,missense_variant,p.Val1543Glu,ENST00000591111,;TTN,missense_variant,p.Val1497Glu,ENST00000460472,;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	4853	47	50	SUCCESS
MFSD6	54842	.	GRCh37	2	191362167	191362167	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	38	0	ENST00000281416.7:c.1894A>G	p.Lys632Glu	p.K632E	ENST00000281416		632	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS2306.1	1894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAAGACA	NONE	.	.	hmmpanther:PTHR16172:SF2,hmmpanther:PTHR16172,Pfam_domain:PF07690	.	.	ENSP00000376141	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000392328	Transcript	.	.	ENSG00000151690	24711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.166)	.	tolerated(0.78)	.	MFSD6_HUMAN	MFSD6	HGNC	C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN	.	UPI000022BD91	SNV	MFSD6,missense_variant,p.Lys168Glu,ENST00000434582,;MFSD6,missense_variant,p.Lys632Glu,ENST00000281416,;MFSD6,missense_variant,p.Lys632Glu,ENST00000392328,;MFSD6,missense_variant,p.Lys94Glu,ENST00000444317,;MFSD6,missense_variant,p.Lys94Glu,ENST00000535751,;MFSD6,splice_region_variant,,ENST00000486123,;MFSD6,upstream_gene_variant,,ENST00000412482,;	2218	38	61	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218925041	218925041	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	27	0	ENST00000439871.1:n.1340T>A		p.*447*	ENST00000439871				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGACTGCA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	1340	27	31	SUCCESS
EPHA4	2043	.	GRCh37	2	222301134	222301134	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	76	0	ENST00000281821.2:c.2331A>T	p.Ala777=	p.A777=	ENST00000281821	NM_004438.3	777	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2447.1	2331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGCTGCTTC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,SMART_domains:SM00220,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000281821	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,synonymous_variant,p.%3D,ENST00000281821,;EPHA4,synonymous_variant,p.%3D,ENST00000409854,;EPHA4,synonymous_variant,p.%3D,ENST00000392071,;EPHA4,synonymous_variant,p.%3D,ENST00000409938,;EPHA4,upstream_gene_variant,,ENST00000424339,;EPHA4,downstream_gene_variant,,ENST00000495693,;	2373	76	84	SUCCESS
SH3BP4	23677	.	GRCh37	2	235951205	235951205	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	90	107	0	ENST00000344528.4:c.1792G>T	p.Glu598Ter	p.E598*	ENST00000344528		598	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS2513.1	1792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAGGCC	NONE	.	.	hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603	.	.	ENSP00000386862	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000409212	Transcript	.	.	ENSG00000130147	10826	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3B4_HUMAN	SH3BP4	HGNC	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN	.	UPI000006DA47	SNV	SH3BP4,stop_gained,p.Glu598Ter,ENST00000409212,;SH3BP4,stop_gained,p.Glu598Ter,ENST00000344528,;SH3BP4,stop_gained,p.Glu598Ter,ENST00000392011,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000446904,;	2299	107	123	SUCCESS
FARP2	9855	.	GRCh37	2	242380934	242380934	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	39	77	0	ENST00000264042.3:c.1374C>A	p.Ala458=	p.A458=	ENST00000264042	NM_014808.2	458	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33424.1	1374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58	.	.	ENSP00000264042	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000264042	Transcript	.	.	ENSG00000006607	16460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FARP2_HUMAN	FARP2	HGNC	C9JWM9_HUMAN,C9JVQ5_HUMAN	.	UPI0000073D5B	SNV	FARP2,synonymous_variant,p.%3D,ENST00000264042,;FARP2,synonymous_variant,p.%3D,ENST00000373287,;FARP2,synonymous_variant,p.%3D,ENST00000545004,;FARP2,synonymous_variant,p.%3D,ENST00000413432,;	1544	77	72	SUCCESS
CAD	790	.	GRCh37	2	27455440	27455440	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1446576025	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	74	137	0	ENST00000264705.4:c.2770A>G	p.Thr924Ala	p.T924A	ENST00000264705	NM_004341.3	924	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1742.1	2770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCACCACC	NONE	.	.	hmmpanther:PTHR11405:SF5,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Gene3D:3.40.50.20,Superfamily_domains:0034967	.	.	ENSP00000264705	.	18/44	.	.	.	.	.	.	.	.	.	18/44	PASS	ENST00000264705	Transcript	.	.	ENSG00000084774	1424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.39)	.	PYR1_HUMAN	CAD	HGNC	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN	.	UPI000013D558	SNV	CAD,missense_variant,p.Thr924Ala,ENST00000264705,;CAD,missense_variant,p.Thr861Ala,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000458503,;CAD,non_coding_transcript_exon_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000479002,;CAD,upstream_gene_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000491891,;	2932	137	151	SUCCESS
SPAST	6683	.	GRCh37	2	32314626	32314626	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768664944	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	24	74	0	ENST00000315285.3:c.538A>G	p.Lys180Glu	p.K180E	ENST00000315285	NM_014946.3	180	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS1778.1	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTAAAATG	NONE	.	.	HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,Pfam_domain:PF04212,PIRSF_domain:PIRSF037338,SMART_domains:SM00745	.	.	ENSP00000320885	.	3/17	.	.	.	.	.	.	.	.	rs768664944	3/17	PASS	ENST00000315285	Transcript	.	.	ENSG00000021574	11233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	deleterious(0)	.	SPAST_HUMAN	SPAST	HGNC	E5KRP5_HUMAN	.	UPI0000038A6B	SNV	SPAST,missense_variant,p.Lys180Glu,ENST00000315285,;SPAST,missense_variant,p.Lys180Glu,ENST00000345662,;AL121655.1,upstream_gene_variant,,ENST00000577299,;	663	74	99	SUCCESS
TMEM131	23505	.	GRCh37	2	98429012	98429012	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs972533717	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	50	182	0	ENST00000186436.5:c.1735A>G	p.Ile579Val	p.I579V	ENST00000186436	NM_015348.1	579	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46368.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATAGCCA	NONE	.	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1,Pfam_domain:PF12371	.	.	ENSP00000186436	.	17/41	.	.	.	.	.	.	.	.	.	17/41	PASS	ENST00000186436	Transcript	.	.	ENSG00000075568	30366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.18)	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,missense_variant,p.Ile579Val,ENST00000186436,;TMEM131,downstream_gene_variant,,ENST00000425805,;TMEM131,downstream_gene_variant,,ENST00000418629,;	1964	182	235	SUCCESS
KIAA1211L	0	.	GRCh37	2	99449345	99449345	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	58	0	ENST00000397899.2:c.355G>T	p.Asp119Tyr	p.D119Y	ENST00000397899	NM_207362.2	119	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42720.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGATCACACA	NONE	.	.	hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	.	.	ENSP00000380996	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000397899	Transcript	.	.	ENSG00000196872	33454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	K121L_HUMAN	KIAA1211L	HGNC	.	.	UPI0000E59245	SNV	KIAA1211L,missense_variant,p.Asp133Tyr,ENST00000415261,;KIAA1211L,missense_variant,p.Asp119Tyr,ENST00000397899,;KIAA1211L,missense_variant,p.Asp133Tyr,ENST00000428096,;KIAA1211L,missense_variant,p.Asp147Tyr,ENST00000423771,;KIAA1211L,intron_variant,,ENST00000462314,;	687	58	57	SUCCESS
IMPG2	50939	.	GRCh37	3	100948247	100948247	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	82	0	ENST00000193391.7:c.3610G>T	p.Glu1204Ter	p.E1204*	ENST00000193391	NM_016247.3	1204	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2940.1	3610	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCATACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199	.	.	ENSP00000193391	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000193391	Transcript	.	.	ENSG00000081148	18362	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IMPG2_HUMAN	IMPG2	HGNC	F1T0J3_HUMAN	.	UPI000013C605	SNV	IMPG2,stop_gained,p.Glu1204Ter,ENST00000193391,;	3798	82	68	SUCCESS
IMPG2	50939	.	GRCh37	3	100976471	100976471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	58	89	0	ENST00000193391.7:c.1055G>T	p.Ser352Ile	p.S352I	ENST00000193391	NM_016247.3	352	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS2940.1	1055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTACTGATT	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199	.	.	ENSP00000193391	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000193391	Transcript	.	.	ENSG00000081148	18362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	IMPG2_HUMAN	IMPG2	HGNC	F1T0J3_HUMAN	.	UPI000013C605	SNV	IMPG2,missense_variant,p.Ser352Ile,ENST00000193391,;	1243	89	89	SUCCESS
ATP2B2	491	.	GRCh37	3	10382000	10382000	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	64	0	ENST00000352432.4:c.3163A>T	p.Ser1055Cys	p.S1055C	ENST00000352432		1055	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS33701.1	3163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTGAATG	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00689,Gene3D:1.20.1110.10,Superfamily_domains:0049473	.	.	ENSP00000353414	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Ser1041Cys,ENST00000343816,;ATP2B2,missense_variant,p.Ser1055Cys,ENST00000360273,;ATP2B2,missense_variant,p.Ser1010Cys,ENST00000383800,;ATP2B2,missense_variant,p.Ser1055Cys,ENST00000352432,;ATP2B2,missense_variant,p.Ser1010Cys,ENST00000397077,;ATP2B2,missense_variant,p.Ser911Cys,ENST00000452124,;ATP2B2,upstream_gene_variant,,ENST00000467702,;ATP2B2,missense_variant,p.Ser1010Cys,ENST00000460129,;	3602	64	68	SUCCESS
BTLA	151888	.	GRCh37	3	112185077	112185077	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	59	0	ENST00000334529.5:c.748G>T	p.Glu250Ter	p.E250*	ENST00000334529	NM_181780.3	250	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS33819.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCTTCCA	NONE	.	.	.	.	.	ENSP00000333919	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000334529	Transcript	.	.	ENSG00000186265	21087	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTLA_HUMAN	BTLA	HGNC	.	.	UPI0000209F49	SNV	BTLA,stop_gained,p.Glu250Ter,ENST00000334529,;BTLA,stop_gained,p.Glu202Ter,ENST00000383680,;BTLA,non_coding_transcript_exon_variant,,ENST00000474965,;BTLA,downstream_gene_variant,,ENST00000496584,;	951	59	70	SUCCESS
C3orf17	0	.	GRCh37	3	112736436	112736436	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	88	0	ENST00000314400.5:c.120A>T	p.Ala40=	p.A40=	ENST00000314400	NM_015412.3	40	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33824.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTGCAAT	NONE	.	.	Pfam_domain:PF14780	.	.	ENSP00000320251	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000314400	Transcript	.	.	ENSG00000163608	24496	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC017_HUMAN	C3orf17	HGNC	C9J9E3_HUMAN,A8MVI8_HUMAN	.	UPI0000367197	SNV	C3orf17,synonymous_variant,p.%3D,ENST00000314400,;C3orf17,synonymous_variant,p.%3D,ENST00000383675,;C3orf17,5_prime_UTR_variant,,ENST00000472166,;C3orf17,intron_variant,,ENST00000393857,;RP11-572M11.4,upstream_gene_variant,,ENST00000460707,;RP11-572M11.4,upstream_gene_variant,,ENST00000470313,;RP11-572M11.4,upstream_gene_variant,,ENST00000496389,;RP11-572M11.4,upstream_gene_variant,,ENST00000467342,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494575,;C3orf17,synonymous_variant,p.%3D,ENST00000461381,;C3orf17,synonymous_variant,p.%3D,ENST00000496340,;C3orf17,synonymous_variant,p.%3D,ENST00000496206,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,intron_variant,,ENST00000462295,;C3orf17,intron_variant,,ENST00000469809,;C3orf17,intron_variant,,ENST00000494891,;C3orf17,intron_variant,,ENST00000472637,;C3orf17,intron_variant,,ENST00000491121,;C3orf17,intron_variant,,ENST00000494164,;C3orf17,intron_variant,,ENST00000472705,;C3orf17,intron_variant,,ENST00000469169,;C3orf17,intron_variant,,ENST00000470663,;C3orf17,intron_variant,,ENST00000489848,;C3orf17,intron_variant,,ENST00000473284,;C3orf17,intron_variant,,ENST00000460410,;GTPBP8,downstream_gene_variant,,ENST00000485330,;	312	88	91	SUCCESS
BOC	91653	.	GRCh37	3	113004363	113004363	+	synonymous_variant	Silent	SNP	C	C	T	rs777774107	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	62	85	0	ENST00000355385.3:c.3108C>T	p.Ala1036=	p.A1036=	ENST00000355385	NM_033254.2	1036	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2971.1	3108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCCCCGA	NONE	.	.	hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489	.	.	ENSP00000418663	.	19/20	.	.	.	.	.	.	.	.	rs777774107	19/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,synonymous_variant,p.%3D,ENST00000355385,;BOC,synonymous_variant,p.%3D,ENST00000495514,;BOC,synonymous_variant,p.%3D,ENST00000273395,;BOC,intron_variant,,ENST00000473008,;WDR52,downstream_gene_variant,,ENST00000393845,;WDR52,downstream_gene_variant,,ENST00000465636,;BOC,3_prime_UTR_variant,,ENST00000488486,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;WDR52,downstream_gene_variant,,ENST00000489244,;BOC,downstream_gene_variant,,ENST00000463971,;	3812	85	100	SUCCESS
SPICE1	152185	.	GRCh37	3	113187199	113187199	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	82	0	ENST00000295872.4:c.942A>G	p.Ser314=	p.S314=	ENST00000295872	NM_144718.3	314	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2973.1	942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGATGATAT	NONE	.	.	hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2	.	.	ENSP00000295872	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000295872	Transcript	.	.	ENSG00000163611	25083	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPICE_HUMAN	SPICE1	HGNC	C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN	.	UPI000007328D	SNV	SPICE1,synonymous_variant,p.%3D,ENST00000295872,;SPICE1,intron_variant,,ENST00000467618,;SPICE1,non_coding_transcript_exon_variant,,ENST00000496105,;	1202	82	97	SUCCESS
CLSTN2	64084	.	GRCh37	3	140281142	140281142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	19	31	0	ENST00000458420.3:c.2204C>A	p.Ser735Tyr	p.S735Y	ENST00000458420	NM_022131.2	735	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS3112.1	2204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTCCATCT	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3	.	.	ENSP00000402460	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	deleterious(0.02)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Ser735Tyr,ENST00000458420,;	2394	31	34	SUCCESS
EPHB3	2049	.	GRCh37	3	184298848	184298848	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	86	0	ENST00000330394.2:c.2627T>G	p.Val876Gly	p.V876G	ENST00000330394	NM_004443.3	876	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS3268.1	2627	MUTECT|MUSE	.	CTGGGTGCGGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000332118	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.568)	.	deleterious(0)	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Val876Gly,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,downstream_gene_variant,,ENST00000482987,;EPHB3,downstream_gene_variant,,ENST00000473079,;	3079	87	70	SUCCESS
MUC4	4585	.	GRCh37	3	195507996	195507996	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs577732202	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	14	139	0	ENST00000463781.3:c.10455C>A	p.His3485Gln	p.H3485Q	ENST00000463781	NM_018406.6	3485	caC/caA	0	.	C:0.0015	.	C:0	.	T	H/Q	protein_coding	YES	CCDS54700.1	10455	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTGTGACC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	C:0	.	ENSP00000417498	C:0	2/25	.	.	.	.	.	.	.	.	rs577732202	2/25	PASS	ENST00000463781	Transcript	.	C:0.0004	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.234)	C:0	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.His3485Gln,ENST00000463781,;MUC4,missense_variant,p.His3485Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.His3485Gln,ENST00000470451,;MUC4,missense_variant,p.His3485Gln,ENST00000477086,;MUC4,missense_variant,p.His3485Gln,ENST00000466475,;MUC4,missense_variant,p.His3485Gln,ENST00000478156,;MUC4,missense_variant,p.His3485Gln,ENST00000479406,;MUC4,missense_variant,p.His3485Gln,ENST00000477756,;MUC4,missense_variant,p.His3485Gln,ENST00000462323,;MUC4,missense_variant,p.His3485Gln,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	10915	140	109	SUCCESS
MUC4	4585	.	GRCh37	3	195509863	195509863	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1182441914	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	9	187	0	ENST00000463781.3:c.8588C>A	p.Thr2863Asn	p.T2863N	ENST00000463781	NM_018406.6	2863	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54700.1	8588	MUTECT|MUSE	.	GAGAGGTGGCG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.623)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Thr2863Asn,ENST00000463781,;MUC4,missense_variant,p.Thr2863Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Thr2863Asn,ENST00000470451,;MUC4,missense_variant,p.Thr2863Asn,ENST00000477086,;MUC4,missense_variant,p.Thr2863Asn,ENST00000466475,;MUC4,missense_variant,p.Thr2863Asn,ENST00000478156,;MUC4,missense_variant,p.Thr2863Asn,ENST00000479406,;MUC4,missense_variant,p.Thr2863Asn,ENST00000477756,;MUC4,missense_variant,p.Thr2863Asn,ENST00000462323,;MUC4,missense_variant,p.Thr2863Asn,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	9048	187	148	SUCCESS
MUC4	4585	.	GRCh37	3	195510007	195510007	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs879056262	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	8	208	0	ENST00000463781.3:c.8444C>A	p.Thr2815Asn	p.T2815N	ENST00000463781	NM_018406.6	2815	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54700.1	8444	MUTECT|MUSE	.	GAGAGGTGGCG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Thr2815Asn,ENST00000463781,;MUC4,missense_variant,p.Thr2815Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Thr2815Asn,ENST00000470451,;MUC4,missense_variant,p.Thr2815Asn,ENST00000477086,;MUC4,missense_variant,p.Thr2815Asn,ENST00000466475,;MUC4,missense_variant,p.Thr2815Asn,ENST00000478156,;MUC4,missense_variant,p.Thr2815Asn,ENST00000479406,;MUC4,missense_variant,p.Thr2815Asn,ENST00000477756,;MUC4,missense_variant,p.Thr2815Asn,ENST00000462323,;MUC4,missense_variant,p.Thr2815Asn,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	8904	208	149	SUCCESS
MUC4	4585	.	GRCh37	3	195515685	195515685	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	126	0	ENST00000463781.3:c.2766C>A	p.Ile922=	p.I922=	ENST00000463781	NM_018406.6	922	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS54700.1	2766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGATAGT	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	3226	126	101	SUCCESS
ZNF385D	79750	.	GRCh37	3	21792575	21792575	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	32	0	ENST00000281523.2:c.-167C>G		p.*56*	ENST00000281523	NM_024697.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2636.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCTGCC	NONE	.	.	.	.	.	ENSP00000281523	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000281523	Transcript	.	.	ENSG00000151789	26191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z385D_HUMAN	ZNF385D	HGNC	.	.	UPI00000724AC	SNV	ZNF385D,5_prime_UTR_variant,,ENST00000281523,;ZNF385D,intron_variant,,ENST00000478967,;ZNF385D,intron_variant,,ENST00000494118,;ZNF385D,intron_variant,,ENST00000494108,;ZNF385D,5_prime_UTR_variant,,ENST00000446749,;	353	32	38	SUCCESS
UBP1	7342	.	GRCh37	3	33441756	33441756	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778346234	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	56	0	ENST00000283628.5:c.1105A>G	p.Thr369Ala	p.T369A	ENST00000283628		369	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2659.1	1105	RADIA|MUTECT|MUSE|VARSCANS	.	GATCGTAGCTG	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF13,Superfamily_domains:SSF47769	.	.	ENSP00000283629	.	11/16	.	.	.	.	.	.	.	.	rs778346234	11/16	PASS	ENST00000283629	Transcript	.	.	ENSG00000153560	12507	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.15)	.	deleterious(0)	.	UBIP1_HUMAN	UBP1	HGNC	C9JWL3_HUMAN	.	UPI00000701D7	SNV	UBP1,missense_variant,p.Thr369Ala,ENST00000283628,;UBP1,missense_variant,p.Thr369Ala,ENST00000283629,;UBP1,missense_variant,p.Thr333Ala,ENST00000447368,;UBP1,non_coding_transcript_exon_variant,,ENST00000486388,;FBXL2,intron_variant,,ENST00000463736,;UBP1,downstream_gene_variant,,ENST00000467613,;UBP1,missense_variant,p.Thr83Ala,ENST00000411650,;UBP1,non_coding_transcript_exon_variant,,ENST00000490112,;UBP1,upstream_gene_variant,,ENST00000464787,;UBP1,upstream_gene_variant,,ENST00000492136,;UBP1,upstream_gene_variant,,ENST00000466441,;	1635	56	50	SUCCESS
STAC	6769	.	GRCh37	3	36484900	36484900	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	34	156	0	ENST00000273183.3:c.156A>T	p.Leu52Phe	p.L52F	ENST00000273183	NM_003149.1	52	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2662.1	156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTACGGAG	NONE	.	.	hmmpanther:PTHR15135:SF3,hmmpanther:PTHR15135	.	.	ENSP00000273183	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000273183	Transcript	.	.	ENSG00000144681	11353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0.01)	.	STAC_HUMAN	STAC	HGNC	B4DZ13_HUMAN	.	UPI0000136081	SNV	STAC,missense_variant,p.Leu41Phe,ENST00000434649,;STAC,missense_variant,p.Leu52Phe,ENST00000273183,;STAC,missense_variant,p.Leu52Phe,ENST00000457375,;STAC,non_coding_transcript_exon_variant,,ENST00000476388,;STAC,non_coding_transcript_exon_variant,,ENST00000486143,;STAC,intron_variant,,ENST00000427486,;	456	156	159	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913396	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	32	151	0	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32V|c.95A>T|41,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.988)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	151	155	SUCCESS
ZNF852	285346	.	GRCh37	3	44544473	44544473	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs762974365	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	40	240	0	ENST00000436261.1:c.-2G>A		p.*1*	ENST00000436261	NM_001287349.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCGAAGT	NONE	.	.	.	.	.	ENSP00000389841	.	2/4	.	.	.	.	.	.	.	.	rs762974365	2/4	PASS	ENST00000436261	Transcript	.	.	ENSG00000178917	27713	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN852_HUMAN	ZNF852	HGNC	.	.	UPI000198C97D	SNV	ZNF852,5_prime_UTR_variant,,ENST00000436261,;ZNF852,intron_variant,,ENST00000489411,;ZNF852,non_coding_transcript_exon_variant,,ENST00000463067,;	160	240	234	SUCCESS
CDCP1	64866	.	GRCh37	3	45187699	45187699	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	80	0	ENST00000296129.1:c.81A>T		p.X27_splice	ENST00000296129	NM_022842.4	27	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2727.1	81	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTGCCCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	.	.	ENSP00000296129	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000296129	Transcript	.	.	ENSG00000163814	24357	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDCP1_HUMAN	CDCP1	HGNC	.	.	UPI000013E304	SNV	CDCP1,synonymous_variant,p.%3D,ENST00000425231,;CDCP1,synonymous_variant,p.%3D,ENST00000296129,;	216	80	74	SUCCESS
PLXNB1	5364	.	GRCh37	3	48455150	48455150	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	71	0	ENST00000296440.6:c.4464A>T	p.Ala1488=	p.A1488=	ENST00000296440	NM_001130082.1	1488	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2765.1	4464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGCCAC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36	.	.	ENSP00000351338	.	23/38	.	.	.	.	.	.	.	.	.	23/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,synonymous_variant,p.%3D,ENST00000358536,;PLXNB1,synonymous_variant,p.%3D,ENST00000296440,;PLXNB1,synonymous_variant,p.%3D,ENST00000358459,;PLXNB1,synonymous_variant,p.%3D,ENST00000448774,;PLXNB1,synonymous_variant,p.%3D,ENST00000456774,;PLXNB1,downstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000465117,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000485535,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000473996,;PLXNB1,downstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000461261,;PLXNB1,upstream_gene_variant,,ENST00000478171,;PLXNB1,downstream_gene_variant,,ENST00000467913,;PLXNB1,upstream_gene_variant,,ENST00000483676,;PLXNB1,upstream_gene_variant,,ENST00000497627,;PLXNB1,downstream_gene_variant,,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000470525,;PLXNB1,downstream_gene_variant,,ENST00000462738,;	4734	71	69	SUCCESS
CELSR3	1951	.	GRCh37	3	48689876	48689876	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	99	0	ENST00000164024.4:c.5745C>A	p.Cys1915Ter	p.C1915*	ENST00000164024	NM_001407.2	1915	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS2775.1	5745	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGCAGCC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50025	.	.	ENSP00000164024	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,stop_gained,p.Cys1915Ter,ENST00000544264,;CELSR3,stop_gained,p.Cys1915Ter,ENST00000164024,;	6026	99	75	SUCCESS
QRICH1	54870	.	GRCh37	3	49095208	49095208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	70	0	ENST00000357496.2:c.425A>T	p.Gln142Leu	p.Q142L	ENST00000357496	NM_017730.2	142	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2787.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCTGGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25	.	.	ENSP00000378830	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000395443	Transcript	.	.	ENSG00000198218	24713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated_low_confidence(0.06)	.	QRIC1_HUMAN	QRICH1	HGNC	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN	.	UPI0000209C85	SNV	QRICH1,missense_variant,p.Gln142Leu,ENST00000395443,;QRICH1,missense_variant,p.Gln142Leu,ENST00000357496,;QRICH1,missense_variant,p.Gln142Leu,ENST00000424300,;QRICH1,intron_variant,,ENST00000479449,;	898	70	67	SUCCESS
USP19	10869	.	GRCh37	3	49149350	49149350	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs534658521	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	69	0	ENST00000398888.2:c.2588A>T	p.Tyr863Phe	p.Y863F	ENST00000398888	NM_006677.2	863	tAt/tTt	0	.	C:0	.	C:0	.	A	Y/F	protein_coding	YES	CCDS56254.1	2891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATAGCCC	NONE	by1000G	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Pfam_domain:PF00443	C:0	.	ENSP00000401197	C:0	20/27	.	.	.	.	.	.	.	.	rs534658521	20/27	PASS	ENST00000434032	Transcript	.	C:0.0002	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	C:0.001	tolerated(0.14)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Tyr966Phe,ENST00000417901,;USP19,missense_variant,p.Tyr903Phe,ENST00000398892,;USP19,missense_variant,p.Tyr903Phe,ENST00000398898,;USP19,missense_variant,p.Tyr954Phe,ENST00000453664,;USP19,missense_variant,p.Tyr964Phe,ENST00000434032,;USP19,missense_variant,p.Tyr671Phe,ENST00000398896,;USP19,missense_variant,p.Tyr863Phe,ENST00000398888,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,upstream_gene_variant,,ENST00000483667,;	3103	69	54	SUCCESS
LAMB2	3913	.	GRCh37	3	49166551	49166551	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	43	0	ENST00000305544.4:c.1633C>G	p.Gln545Glu	p.Q545E	ENST00000305544		545	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS2789.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGGCGGC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF36,hmmpanther:PTHR10574,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000388325	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.72)	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	SNV	LAMB2,missense_variant,p.Gln545Glu,ENST00000305544,;LAMB2,missense_variant,p.Gln545Glu,ENST00000418109,;LAMB2,downstream_gene_variant,,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000464891,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,non_coding_transcript_exon_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,upstream_gene_variant,,ENST00000493571,;LAMB2,upstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000477701,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,upstream_gene_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000483057,;	1798	43	49	SUCCESS
BSN	8927	.	GRCh37	3	49698355	49698355	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs141830771	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	38	0	ENST00000296452.4:c.9077C>G	p.Thr3026Ser	p.T3026S	ENST00000296452	NM_003458.3	3026	aCc/aGc	0	T:0.0005	.	.	.	.	G	T/S	protein_coding	YES	CCDS2800.1	9077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACCACTC	NONE	byCluster	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	T:0	ENSP00000296452	.	6/12	.	.	.	.	.	.	.	.	rs141830771	6/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Thr3026Ser,ENST00000296452,;	9191	38	37	SUCCESS
CDHR4	389118	.	GRCh37	3	49832413	49832413	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	32	109	0	ENST00000412678.2:c.1152T>A	p.Pro384=	p.P384=	ENST00000412678	NM_001007540.2	384	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS46829.1	1152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGGGTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF99,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000391409	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,synonymous_variant,p.%3D,ENST00000412678,;CDHR4,downstream_gene_variant,,ENST00000487256,;CDHR4,downstream_gene_variant,,ENST00000343366,;CDHR4,upstream_gene_variant,,ENST00000487666,;CDHR4,upstream_gene_variant,,ENST00000462108,;CDHR4,upstream_gene_variant,,ENST00000460430,;	1161	109	127	SUCCESS
LRTM1	57408	.	GRCh37	3	54952542	54952542	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	34	133	0	ENST00000273286.5:c.982A>G	p.Thr328Ala	p.T328A	ENST00000273286	NM_020678.2	328	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2876.1	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGTTTGAG	NONE	.	.	hmmpanther:PTHR24369:SF18,hmmpanther:PTHR24369	.	.	ENSP00000273286	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000273286	Transcript	.	.	ENSG00000144771	25023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.98)	.	LRTM1_HUMAN	LRTM1	HGNC	.	.	UPI000006CEEC	SNV	LRTM1,missense_variant,p.Thr328Ala,ENST00000273286,;LRTM1,missense_variant,p.Thr252Ala,ENST00000493075,;CACNA2D3,intron_variant,,ENST00000474759,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,intron_variant,,ENST00000471363,;	1145	133	130	SUCCESS
DNAH12	201625	.	GRCh37	3	57394214	57394214	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	64	102	0	ENST00000351747.2:c.6012G>T	p.Leu2004=	p.L2004=	ENST00000351747	NM_178504.4	2004	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	.	.	6012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATCAGCTC	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000295937	.	40/59	.	.	.	.	.	.	.	.	.	40/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000495027,;	6193	102	110	SUCCESS
MITF	4286	.	GRCh37	3	70008478	70008478	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	29	192	0	ENST00000352241.4:c.1068A>G	p.Arg356=	p.R356=	ENST00000352241	NM_198159.2	356	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS43106.1	1068	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGAAAGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50888,hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF38,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000295600	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000352241	Transcript	.	.	ENSG00000187098	7105	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MITF_HUMAN	MITF	HGNC	C9K0S7_HUMAN	.	UPI000002ADF8	SNV	MITF,synonymous_variant,p.%3D,ENST00000314589,;MITF,synonymous_variant,p.%3D,ENST00000394351,;MITF,synonymous_variant,p.%3D,ENST00000472437,;MITF,synonymous_variant,p.%3D,ENST00000352241,;MITF,synonymous_variant,p.%3D,ENST00000531774,;MITF,synonymous_variant,p.%3D,ENST00000328528,;MITF,synonymous_variant,p.%3D,ENST00000394355,;MITF,synonymous_variant,p.%3D,ENST00000451708,;MITF,synonymous_variant,p.%3D,ENST00000448226,;MITF,synonymous_variant,p.%3D,ENST00000314557,;MITF,3_prime_UTR_variant,,ENST00000478490,;	1231	192	196	SUCCESS
ROBO2	6092	.	GRCh37	3	77666666	77666666	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs372099694	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	42	61	0	ENST00000461745.1:c.3296A>G	p.Tyr1099Cys	p.Y1099C	ENST00000461745	NM_002942.4	1099	tAt/tGt	0	G:0.0003	G:0	.	G:0.0014	.	G	Y/C	protein_coding	YES	CCDS54609.1	3344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTATGACA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489	G:0	G:0	ENSP00000417335	G:0	23/27	.	.	.	.	.	.	.	.	rs372099694	23/27	PASS	ENST00000487694	Transcript	.	G:0.0002	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	G:0	tolerated(0.13)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Tyr1099Cys,ENST00000332191,;ROBO2,missense_variant,p.Tyr1099Cys,ENST00000461745,;ROBO2,missense_variant,p.Tyr256Cys,ENST00000490991,;ROBO2,missense_variant,p.Tyr1115Cys,ENST00000487694,;ROBO2,upstream_gene_variant,,ENST00000475334,;ROBO2,splice_region_variant,,ENST00000469233,;ROBO2,splice_region_variant,,ENST00000473767,;	3623	61	59	SUCCESS
KIAA1109	84162	.	GRCh37	4	123185451	123185451	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	122	0	ENST00000264501.4:c.7186A>C	p.Asn2396His	p.N2396H	ENST00000264501		2396	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS43267.1	7186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAACACT	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	45/86	.	.	.	.	.	.	.	.	.	45/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Asn2396His,ENST00000455637,;KIAA1109,missense_variant,p.Asn969His,ENST00000446180,;KIAA1109,missense_variant,p.Asn2396His,ENST00000264501,;KIAA1109,missense_variant,p.Asn2396His,ENST00000388738,;KIAA1109,missense_variant,p.Asn354His,ENST00000419325,;	7559	122	54	SUCCESS
BOD1L1	259282	.	GRCh37	4	13616094	13616094	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	73	0	ENST00000040738.5:c.900A>G	p.Leu300=	p.L300=	ENST00000040738	NM_148894.2	300	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3411.2	900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATTAAATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,synonymous_variant,p.%3D,ENST00000040738,;BOD1L1,3_prime_UTR_variant,,ENST00000482713,;	1036	73	31	SUCCESS
FGA	2243	.	GRCh37	4	155507589	155507589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	127	0	ENST00000302053.3:c.992C>A	p.Thr331Asn	p.T331N	ENST00000302053	NM_000508.3	331	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS3787.1	992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTACTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.13)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Thr331Asn,ENST00000302053,;FGA,missense_variant,p.Thr331Asn,ENST00000403106,;	1071	127	69	SUCCESS
C4orf47	441054	.	GRCh37	4	186361844	186361844	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	59	163	0	ENST00000378850.4:c.685A>G	p.Thr229Ala	p.T229A	ENST00000378850	NM_001114357.1	229	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47169.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATACTTTT	NONE	.	.	hmmpanther:PTHR31144,hmmpanther:PTHR31144:SF1,Pfam_domain:PF15239	.	.	ENSP00000368127	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000378850	Transcript	.	.	ENSG00000205129	34346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.07)	.	CD047_HUMAN	C4orf47	HGNC	D6RCA9_HUMAN,D6R9T4_HUMAN	.	UPI0000422C9D	SNV	C4orf47,missense_variant,p.Thr229Ala,ENST00000378850,;CCDC110,downstream_gene_variant,,ENST00000307588,;CCDC110,downstream_gene_variant,,ENST00000393540,;C4orf47,downstream_gene_variant,,ENST00000511138,;C4orf47,downstream_gene_variant,,ENST00000511581,;C4orf47,3_prime_UTR_variant,,ENST00000508698,;CCDC110,downstream_gene_variant,,ENST00000508538,;C4orf47,downstream_gene_variant,,ENST00000512770,;C4orf47,downstream_gene_variant,,ENST00000501066,;	707	163	104	SUCCESS
RFC1	5981	.	GRCh37	4	39313096	39313096	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	46	0	ENST00000381897.1:c.1457A>G	p.Lys486Arg	p.K486R	ENST00000381897	NM_002913.4	486	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS56329.1	1457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATTTCTTG	NONE	.	.	hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,PIRSF_domain:PIRSF036578	.	.	ENSP00000371321	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000381897	Transcript	.	.	ENSG00000035928	9969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.12)	.	RFC1_HUMAN	RFC1	HGNC	.	.	UPI0000167BB4	SNV	RFC1,missense_variant,p.Lys486Arg,ENST00000381897,;RFC1,missense_variant,p.Lys118Arg,ENST00000504554,;RFC1,missense_variant,p.Lys486Arg,ENST00000349703,;RFC1,non_coding_transcript_exon_variant,,ENST00000502706,;RFC1,downstream_gene_variant,,ENST00000509084,;	1591	46	34	SUCCESS
GABRA4	2557	.	GRCh37	4	46967019	46967019	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	129	0	ENST00000264318.3:c.1102C>T	p.Gln368Ter	p.Q368*	ENST00000264318	NM_000809.3	368	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS3473.1	1102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGCACTG	NONE	.	.	Prints_domain:PR01617,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	.	.	ENSP00000264318	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000264318	Transcript	.	.	ENSG00000109158	4078	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA4_HUMAN	GABRA4	HGNC	.	.	UPI0000074200	SNV	GABRA4,stop_gained,p.Gln368Ter,ENST00000264318,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000508560,;	2085	129	66	SUCCESS
SPATA18	132671	.	GRCh37	4	52943036	52943036	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	61	242	0	ENST00000295213.4:c.850A>T	p.Arg284Trp	p.R284W	ENST00000295213	NM_145263.2	284	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS3489.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCAGGAGA	NONE	.	.	hmmpanther:PTHR21771:SF0,hmmpanther:PTHR21771	.	.	ENSP00000295213	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000295213	Transcript	.	.	ENSG00000163071	29579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	tolerated(0.06)	.	MIEAP_HUMAN	SPATA18	HGNC	.	.	UPI000006FB0D	SNV	SPATA18,missense_variant,p.Arg284Trp,ENST00000295213,;SPATA18,missense_variant,p.Arg252Trp,ENST00000419395,;SPATA18,non_coding_transcript_exon_variant,,ENST00000514670,;SPATA18,downstream_gene_variant,,ENST00000506829,;SPATA18,missense_variant,p.Arg284Trp,ENST00000505320,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;SPATA18,downstream_gene_variant,,ENST00000505038,;SPATA18,upstream_gene_variant,,ENST00000510549,;SPATA18,downstream_gene_variant,,ENST00000508915,;	1224	242	118	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6058425	6058425	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	34	0	ENST00000282924.5:c.1706A>T	p.Lys569Met	p.K569M	ENST00000282924	NM_144720.3	569	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS47005.1	1706	RADIA|MUTECT|MUSE	.	GCACCTTTTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,missense_variant,p.Lys569Met,ENST00000409021,;JAKMIP1,missense_variant,p.Lys569Met,ENST00000409831,;JAKMIP1,missense_variant,p.Lys569Met,ENST00000282924,;JAKMIP1,missense_variant,p.Lys384Met,ENST00000409371,;JAKMIP1,missense_variant,p.Lys404Met,ENST00000410077,;JAKMIP1,missense_variant,p.Lys569Met,ENST00000473053,;	2156	34	11	SUCCESS
WFS1	7466	.	GRCh37	4	6288867	6288867	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	100	0	ENST00000226760.1:c.280A>T	p.Arg94Trp	p.R94W	ENST00000226760	NM_001145853.1	94	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS3386.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGAGGGCC	BUFFER|p.R94G|c.280A>G|3	.	.	hmmpanther:PTHR13098,Gene3D:1.25.40.10,Prints_domain:PR02061	.	.	ENSP00000226760	.	3/8	.	.	.	.	.	.	.	.	COSM1430495	3/8	PASS	ENST00000226760	Transcript	1	.	ENSG00000109501	12762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.833)	.	deleterious(0)	1	WFS1_HUMAN	WFS1	HGNC	B4DJ99_HUMAN	.	UPI00000715C3	SNV	WFS1,missense_variant,p.Arg94Trp,ENST00000503569,;WFS1,missense_variant,p.Arg94Trp,ENST00000226760,;WFS1,upstream_gene_variant,,ENST00000506362,;WFS1,non_coding_transcript_exon_variant,,ENST00000506588,;WFS1,upstream_gene_variant,,ENST00000507765,;	450	100	27	SUCCESS
SULT1B1	27284	.	GRCh37	4	70620914	70620914	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	116	0	ENST00000310613.3:c.22C>T	p.Leu8=	p.L8=	ENST00000310613	NM_014465.3	8	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3530.1	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGAATAT	NONE	.	.	hmmpanther:PTHR11783:SF14,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000308770	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000310613	Transcript	.	.	ENSG00000173597	17845	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST1B1_HUMAN	SULT1B1	HGNC	D6RIA8_HUMAN,D6RD70_HUMAN	.	UPI000006FDD9	SNV	SULT1B1,synonymous_variant,p.%3D,ENST00000310613,;SULT1B1,synonymous_variant,p.%3D,ENST00000510821,;SULT1B1,5_prime_UTR_variant,,ENST00000512870,;	320	116	70	SUCCESS
SOWAHB	345079	.	GRCh37	4	77818168	77818168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	18	0	ENST00000334306.2:c.835C>T	p.Pro279Ser	p.P279S	ENST00000334306	NM_001029870.1	279	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34017.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGGGCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF3	.	.	ENSP00000334879	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334306	Transcript	.	.	ENSG00000186212	32958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	tolerated(0.09)	.	SWAHB_HUMAN	SOWAHB	HGNC	.	.	UPI000019777A	SNV	SOWAHB,missense_variant,p.Pro279Ser,ENST00000334306,;	835	18	13	SUCCESS
SEC31A	22872	.	GRCh37	4	83793196	83793196	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	203	0	ENST00000355196.2:c.683A>C	p.Gln228Pro	p.Q228P	ENST00000355196		228	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS3596.1	683	RADIA|MUTECT|MUSE	.	CCATCTGAGTA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923,PROSITE_profiles:PS50294	.	.	ENSP00000378721	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000395310	Transcript	.	.	ENSG00000138674	17052	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.756)	.	deleterious(0)	.	SC31A_HUMAN	SEC31A	HGNC	U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN	.	UPI000003E7E1	SNV	SEC31A,missense_variant,p.Gln228Pro,ENST00000448323,;SEC31A,missense_variant,p.Gln228Pro,ENST00000505984,;SEC31A,missense_variant,p.Gln228Pro,ENST00000311785,;SEC31A,missense_variant,p.Gln228Pro,ENST00000500777,;SEC31A,missense_variant,p.Gln228Pro,ENST00000395310,;SEC31A,missense_variant,p.Gln228Pro,ENST00000509142,;SEC31A,missense_variant,p.Gln199Pro,ENST00000503058,;SEC31A,missense_variant,p.Gln228Pro,ENST00000508502,;SEC31A,missense_variant,p.Gln228Pro,ENST00000505472,;SEC31A,missense_variant,p.Gln228Pro,ENST00000432794,;SEC31A,missense_variant,p.Gln228Pro,ENST00000513858,;SEC31A,missense_variant,p.Gln228Pro,ENST00000355196,;SEC31A,missense_variant,p.Gln223Pro,ENST00000443462,;SEC31A,missense_variant,p.Gln228Pro,ENST00000508479,;SEC31A,missense_variant,p.Gln228Pro,ENST00000326950,;SEC31A,missense_variant,p.Gln228Pro,ENST00000348405,;SEC31A,downstream_gene_variant,,ENST00000514326,;SEC31A,upstream_gene_variant,,ENST00000264405,;SEC31A,downstream_gene_variant,,ENST00000513323,;SEC31A,non_coding_transcript_exon_variant,,ENST00000436790,;SEC31A,downstream_gene_variant,,ENST00000511975,;SEC31A,downstream_gene_variant,,ENST00000507816,;SEC31A,downstream_gene_variant,,ENST00000507340,;	866	203	102	SUCCESS
THAP9	79725	.	GRCh37	4	83838969	83838969	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	67	0	ENST00000302236.5:c.1604T>A	p.Leu535Gln	p.L535Q	ENST00000302236	NM_024672.4	535	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3598.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTGTTGC	NONE	.	.	hmmpanther:PTHR10725,hmmpanther:PTHR10725:SF6	.	.	ENSP00000305533	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000302236	Transcript	.	.	ENSG00000168152	23192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	THAP9_HUMAN	THAP9	HGNC	.	.	UPI0000367262	SNV	THAP9,missense_variant,p.Leu535Gln,ENST00000302236,;LIN54,intron_variant,,ENST00000505905,;THAP9,3_prime_UTR_variant,,ENST00000505901,;THAP9,downstream_gene_variant,,ENST00000506208,;	1655	67	30	SUCCESS
WDFY3	23001	.	GRCh37	4	85623579	85623579	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	40	190	0	ENST00000295888.4:c.8523A>C	p.Ala2841=	p.A2841=	ENST00000295888	NM_014991.4	2841	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3609.1	8523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTGCCAT	NONE	.	.	Superfamily_domains:SSF81837,SMART_domains:SM01026,Gene3D:1t77A02,Pfam_domain:PF02138,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743,PROSITE_profiles:PS50197	.	.	ENSP00000295888	.	56/68	.	.	.	.	.	.	.	.	.	56/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,synonymous_variant,p.%3D,ENST00000514711,;WDFY3,synonymous_variant,p.%3D,ENST00000295888,;WDFY3,synonymous_variant,p.%3D,ENST00000322366,;	8931	190	78	SUCCESS
SLCO4C1	353189	.	GRCh37	5	101631729	101631729	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	25	133	0	ENST00000310954.6:c.238C>G	p.Leu80Val	p.L80V	ENST00000310954	NM_180991.4	80	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS34205.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGCGACA	NONE	.	.	hmmpanther:PTHR11388:SF81,hmmpanther:PTHR11388,Low_complexity_(Seg):seg	.	.	ENSP00000309741	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000310954	Transcript	.	.	ENSG00000173930	23612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.64)	.	SO4C1_HUMAN	SLCO4C1	HGNC	Q63HP3_HUMAN	.	UPI00001C10B6	SNV	SLCO4C1,missense_variant,p.Leu80Val,ENST00000310954,;	525	133	90	SUCCESS
NKD2	85409	.	GRCh37	5	1036382	1036382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	61	0	ENST00000296849.5:c.670A>T	p.Thr224Ser	p.T224S	ENST00000296849	NM_033120.3	224	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3859.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTACTGAC	NONE	.	.	hmmpanther:PTHR22611,hmmpanther:PTHR22611:SF1	.	.	ENSP00000296849	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000296849	Transcript	.	.	ENSG00000145506	17046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.97)	.	NKD2_HUMAN	NKD2	HGNC	.	.	UPI0000073E19	SNV	NKD2,missense_variant,p.Thr224Ser,ENST00000537972,;NKD2,missense_variant,p.Thr224Ser,ENST00000274150,;NKD2,missense_variant,p.Thr224Ser,ENST00000296849,;NKD2,upstream_gene_variant,,ENST00000382730,;NKD2,non_coding_transcript_exon_variant,,ENST00000523688,;NKD2,non_coding_transcript_exon_variant,,ENST00000513296,;NKD2,downstream_gene_variant,,ENST00000519933,;	899	61	49	SUCCESS
MAN2A1	4124	.	GRCh37	5	109049407	109049407	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	91	0	ENST00000261483.4:c.322T>G	p.Ser108Ala	p.S108A	ENST00000261483	NM_002372.2	108	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS34209.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTATCCCTC	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20	.	.	ENSP00000261483	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.58)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Ser108Ala,ENST00000261483,;	1374	91	79	SUCCESS
YTHDC2	64848	.	GRCh37	5	112849665	112849665	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1007614690	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	78	0	ENST00000161863.4:c.73T>C	p.Cys25Arg	p.C25R	ENST00000161863	NM_022828.3	25	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS4113.1	73	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTTGTGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000161863	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000161863	Transcript	.	.	ENSG00000047188	24721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.15)	.	YTDC2_HUMAN	YTHDC2	HGNC	D6RA70_HUMAN	.	UPI0000367311	SNV	YTHDC2,missense_variant,p.Cys25Arg,ENST00000515883,;YTHDC2,missense_variant,p.Cys25Arg,ENST00000161863,;YTHDC2,upstream_gene_variant,,ENST00000514720,;YTHDC2,missense_variant,p.Cys25Arg,ENST00000503857,;	286	78	62	SUCCESS
DMXL1	1657	.	GRCh37	5	118513717	118513717	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	96	0	ENST00000311085.8:c.6913A>T	p.Asn2305Tyr	p.N2305Y	ENST00000311085	NM_005509.4	2305	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS4125.1	6913	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGAATTCT	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	28/43	.	.	.	.	.	.	.	.	.	28/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	deleterious(0.02)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Asn2305Tyr,ENST00000539542,;DMXL1,missense_variant,p.Asn2305Tyr,ENST00000311085,;	6993	96	86	SUCCESS
SLC12A2	6558	.	GRCh37	5	127484507	127484507	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	81	0	ENST00000262461.2:c.1943A>G	p.Asn648Ser	p.N648S	ENST00000262461	NM_001046.2	648	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS4144.1	1943	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAATAATG	NONE	.	.	hmmpanther:PTHR11827:SF58,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324	.	.	ENSP00000262461	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.62)	.	deleterious(0.04)	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,missense_variant,p.Asn648Ser,ENST00000343225,;SLC12A2,missense_variant,p.Asn648Ser,ENST00000262461,;SLC12A2,missense_variant,p.Asn648Ser,ENST00000509205,;	2132	81	67	SUCCESS
P4HA2	8974	.	GRCh37	5	131552947	131552947	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370556720	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	71	0	ENST00000166534.4:c.274C>T	p.Arg92Trp	p.R92W	ENST00000166534	NM_001142599.1	92	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS4151.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGCTTCA	NONE	byFrequency|byCluster	.	Pfam_domain:PF08336,hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF41	.	A:0.0001	ENSP00000384999	.	5/16	.	.	.	.	.	.	.	.	rs370556720	5/16	PASS	ENST00000401867	Transcript	.	.	ENSG00000072682	8547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	P4HA2_HUMAN	P4HA2	HGNC	E7ERI1_HUMAN,E7ENX0_HUMAN,C9JX45_HUMAN,C9JN43_HUMAN,C9JIG4_HUMAN,C9JFJ1_HUMAN,C9JCP0_HUMAN,A8MXE0_HUMAN	.	UPI000013102D	SNV	P4HA2,missense_variant,p.Arg92Trp,ENST00000379104,;P4HA2,missense_variant,p.Arg92Trp,ENST00000166534,;P4HA2,missense_variant,p.Arg92Trp,ENST00000428369,;P4HA2,missense_variant,p.Arg124Trp,ENST00000431054,;P4HA2,missense_variant,p.Arg92Trp,ENST00000360568,;P4HA2,missense_variant,p.Arg92Trp,ENST00000401867,;P4HA2,missense_variant,p.Arg92Trp,ENST00000439698,;P4HA2,missense_variant,p.Arg92Trp,ENST00000453286,;P4HA2,missense_variant,p.Arg92Trp,ENST00000379100,;P4HA2,missense_variant,p.Arg92Trp,ENST00000395164,;P4HA2,missense_variant,p.Arg92Trp,ENST00000417528,;P4HA2,missense_variant,p.Arg92Trp,ENST00000418055,;P4HA2,missense_variant,p.Arg92Trp,ENST00000379086,;P4HA2,missense_variant,p.Arg92Trp,ENST00000416053,;P4HA2,downstream_gene_variant,,ENST00000428841,;P4HA2,non_coding_transcript_exon_variant,,ENST00000478055,;	843	71	44	SUCCESS
SMAD5	4090	.	GRCh37	5	135496605	135496605	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	77	195	0	ENST00000545279.1:c.464T>G	p.Val155Gly	p.V155G	ENST00000545279	NM_001001419.1	155	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	.	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTTCAGT	NONE	.	.	hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF36	.	.	ENSP00000441954	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000545279	Transcript	.	.	ENSG00000113658	6771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.11)	.	SMAD5_HUMAN	SMAD5	HGNC	Q68DB7_HUMAN,F5GWU7_HUMAN,D6RIZ9_HUMAN,D6RBB4_HUMAN,D6R9D4_HUMAN	.	UPI000013C952	SNV	SMAD5,missense_variant,p.Val155Gly,ENST00000545620,;SMAD5,missense_variant,p.Val155Gly,ENST00000545279,;SMAD5,upstream_gene_variant,,ENST00000507637,;SMAD5,non_coding_transcript_exon_variant,,ENST00000514641,;SMAD5,intron_variant,,ENST00000514777,;	824	195	136	SUCCESS
FAM13B	51306	.	GRCh37	5	137354837	137354837	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs770302851	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	92	0	ENST00000033079.3:c.-35-2A>G		p.X12_splice	ENST00000033079	NM_016603.2	12		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4195.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGCCAA	NONE	.	.	.	.	.	ENSP00000033079	.	.	.	.	.	.	.	.	.	.	rs770302851	.	PASS	ENST00000033079	Transcript	.	.	ENSG00000031003	1335	.	.	HIGH	2/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA13B_HUMAN	FAM13B	HGNC	D6RE97_HUMAN,D6RDL7_HUMAN,D6RCA0_HUMAN,D6RBJ3_HUMAN,D6RAT6_HUMAN	.	UPI000004A03C	SNV	FAM13B,splice_acceptor_variant,,ENST00000420893,;FAM13B,splice_acceptor_variant,,ENST00000505961,;FAM13B,splice_acceptor_variant,,ENST00000033079,;FAM13B,splice_acceptor_variant,,ENST00000514310,;FAM13B,splice_acceptor_variant,,ENST00000502471,;FAM13B,splice_acceptor_variant,,ENST00000509596,;FAM13B,splice_acceptor_variant,,ENST00000508403,;FAM13B,intron_variant,,ENST00000425075,;FAM13B,downstream_gene_variant,,ENST00000510804,;	.	92	73	SUCCESS
PCDHB1	29930	.	GRCh37	5	140432008	140432008	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	122	0	ENST00000306549.3:c.953A>G	p.Asp318Gly	p.D318G	ENST00000306549	NM_013340.2	318	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS4243.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGACATTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,missense_variant,p.Asp318Gly,ENST00000306549,;	1030	122	84	SUCCESS
PCDHB8	56128	.	GRCh37	5	140558117	140558117	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	251	67	474	0	ENST00000239444.2:c.502A>G	p.Ile168Val	p.I168V	ENST00000239444	NM_019120.3	168	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4250.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATATTGAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF89,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.78)	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,missense_variant,p.Ile168Val,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	747	474	318	SUCCESS
JAKMIP2	9832	.	GRCh37	5	147030071	147030071	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	154	0	ENST00000265272.5:c.667C>T	p.Leu223=	p.L223=	ENST00000265272	NM_014790.4	223	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4285.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGGAAA	NONE	.	.	hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7	.	.	ENSP00000265272	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000265272	Transcript	.	.	ENSG00000176049	29067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JKIP2_HUMAN	JAKMIP2	HGNC	.	.	UPI000000D782	SNV	JAKMIP2,synonymous_variant,p.%3D,ENST00000265272,;JAKMIP2,synonymous_variant,p.%3D,ENST00000333010,;JAKMIP2,synonymous_variant,p.%3D,ENST00000507386,;JAKMIP2,intron_variant,,ENST00000507343,;	1135	154	131	SUCCESS
SLC36A3	285641	.	GRCh37	5	150678223	150678223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	86	0	ENST00000335230.3:c.150C>A	p.His50Gln	p.H50Q	ENST00000335230	NM_181774.3	50	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS47316.1	150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGTGGAT	NONE	.	.	Pfam_domain:PF01490,hmmpanther:PTHR22950:SF203,hmmpanther:PTHR22950	.	.	ENSP00000366942	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000377713	Transcript	.	.	ENSG00000186334	19659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S36A3_HUMAN	SLC36A3	HGNC	.	.	UPI00005764D3	SNV	SLC36A3,missense_variant,p.His50Gln,ENST00000335230,;SLC36A3,missense_variant,p.His50Gln,ENST00000377713,;SLC36A3,upstream_gene_variant,,ENST00000423071,;	292	86	68	SUCCESS
SPARC	6678	.	GRCh37	5	151045983	151045983	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	91	0	ENST00000231061.4:c.673A>T	p.Asn225Tyr	p.N225Y	ENST00000231061	NM_003118.3	225	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS4318.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTTATAGT	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,Pfam_domain:PF10591,hmmpanther:PTHR13866,hmmpanther:PTHR13866:SF6	.	.	ENSP00000231061	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000231061	Transcript	.	.	ENSG00000113140	11219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.21)	.	SPRC_HUMAN	SPARC	HGNC	F5H4E2_HUMAN,F5GY03_HUMAN,E5RK62_HUMAN,E5RJA5_HUMAN,D3DQH8_HUMAN	.	UPI0000040638	SNV	SPARC,missense_variant,p.Asn225Tyr,ENST00000231061,;SPARC,missense_variant,p.Asn134Tyr,ENST00000538026,;SPARC,downstream_gene_variant,,ENST00000521569,;SPARC,downstream_gene_variant,,ENST00000537849,;SPARC,non_coding_transcript_exon_variant,,ENST00000520687,;SPARC,downstream_gene_variant,,ENST00000524277,;	987	91	81	SUCCESS
FAM114A2	10827	.	GRCh37	5	153413430	153413430	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	39	153	0	ENST00000351797.4:c.324A>G	p.Ser108=	p.S108=	ENST00000351797	NM_018691.2	108	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4323.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTTGAAAT	NONE	.	.	Pfam_domain:PF05334,hmmpanther:PTHR12842,hmmpanther:PTHR12842:SF3	.	.	ENSP00000341597	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000351797	Transcript	.	.	ENSG00000055147	1333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1142_HUMAN	FAM114A2	HGNC	E5RK42_HUMAN,E5RHP2_HUMAN,E5RHI8_HUMAN,E5RH43_HUMAN,E5RGF9_HUMAN,E5RFK2_HUMAN	.	UPI000013D5DA	SNV	FAM114A2,synonymous_variant,p.%3D,ENST00000522395,;FAM114A2,synonymous_variant,p.%3D,ENST00000523705,;FAM114A2,synonymous_variant,p.%3D,ENST00000351797,;FAM114A2,synonymous_variant,p.%3D,ENST00000520667,;FAM114A2,synonymous_variant,p.%3D,ENST00000522858,;FAM114A2,synonymous_variant,p.%3D,ENST00000520313,;FAM114A2,synonymous_variant,p.%3D,ENST00000519808,;FAM114A2,downstream_gene_variant,,ENST00000518102,;FAM114A2,downstream_gene_variant,,ENST00000524246,;FAM114A2,downstream_gene_variant,,ENST00000522634,;FAM114A2,downstream_gene_variant,,ENST00000517605,;FAM114A2,non_coding_transcript_exon_variant,,ENST00000518900,;FAM114A2,intron_variant,,ENST00000517803,;FAM114A2,downstream_gene_variant,,ENST00000521031,;	401	153	142	SUCCESS
PRKAA1	5562	.	GRCh37	5	40763061	40763061	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs373496949	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	111	0	ENST00000397128.2:c.1499A>G	p.Tyr500Cys	p.Y500C	ENST00000397128	NM_006251.5	500	tAt/tGt	0	C:0.0003	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3933.2	1544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGATAGTTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF81,Superfamily_domains:SSF103243	.	C:0	ENSP00000346148	.	10/10	.	.	.	.	.	.	.	.	rs373496949	10/10	PASS	ENST00000354209	Transcript	.	.	ENSG00000132356	9376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.17)	.	AAPK1_HUMAN	PRKAA1	HGNC	.	.	UPI00003529FB	SNV	PRKAA1,missense_variant,p.Tyr500Cys,ENST00000397128,;PRKAA1,missense_variant,p.Tyr515Cys,ENST00000354209,;PRKAA1,downstream_gene_variant,,ENST00000506652,;PRKAA1,downstream_gene_variant,,ENST00000509874,;PRKAA1,downstream_gene_variant,,ENST00000505783,;PRKAA1,downstream_gene_variant,,ENST00000513152,;	1729	111	94	SUCCESS
SREK1IP1	285672	.	GRCh37	5	64023956	64023956	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	49	221	0	ENST00000513458.4:c.256A>T	p.Lys86Ter	p.K86*	ENST00000513458	NM_173829.3	86	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS34171.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTTGATTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31437:SF1,hmmpanther:PTHR31437	.	.	ENSP00000427401	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000513458	Transcript	.	.	ENSG00000153006	26716	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SR1IP_HUMAN	SREK1IP1	HGNC	.	.	UPI000006EDBE	SNV	SREK1IP1,stop_gained,p.Lys86Ter,ENST00000513458,;SREK1IP1,non_coding_transcript_exon_variant,,ENST00000495198,;	424	221	187	SUCCESS
MARVELD2	153562	.	GRCh37	5	68715680	68715680	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	97	0	ENST00000325631.5:c.468G>A	p.Arg156=	p.R156=	ENST00000325631	NM_001038603.2	156	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34175.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGGATCC	NONE	.	.	hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3	.	.	ENSP00000323264	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,synonymous_variant,p.%3D,ENST00000512803,;MARVELD2,synonymous_variant,p.%3D,ENST00000436532,;MARVELD2,synonymous_variant,p.%3D,ENST00000454295,;MARVELD2,synonymous_variant,p.%3D,ENST00000325631,;MARVELD2,synonymous_variant,p.%3D,ENST00000413223,;MARVELD2,downstream_gene_variant,,ENST00000515844,;	542	97	99	SUCCESS
ELL2	22936	.	GRCh37	5	95236690	95236690	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1192274694	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	67	202	0	ENST00000237853.4:c.836A>G	p.Asp279Gly	p.D279G	ENST00000237853	NM_012081.5	279	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4080.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGTCTATT	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288,Pfam_domain:PF10390,Superfamily_domains:SSF46785	.	.	ENSP00000237853	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,missense_variant,p.Asp97Gly,ENST00000513343,;ELL2,missense_variant,p.Asp279Gly,ENST00000237853,;ELL2,intron_variant,,ENST00000431061,;ELL2,upstream_gene_variant,,ENST00000508757,;ELL2,non_coding_transcript_exon_variant,,ENST00000505584,;	1186	202	152	SUCCESS
MICAL1	64780	.	GRCh37	6	109766714	109766714	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	44	0	ENST00000358807.3:c.2692A>T	p.Lys898Ter	p.K898*	ENST00000358807	NM_022765.3	898	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5076.1	2692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTTGGCAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF259	.	.	ENSP00000351664	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000358807	Transcript	.	.	ENSG00000135596	20619	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA1_HUMAN	MICAL1	HGNC	Q5TED7_HUMAN,H0UI45_HUMAN	.	UPI00000745D0	SNV	MICAL1,stop_gained,p.Lys898Ter,ENST00000358807,;MICAL1,stop_gained,p.Lys812Ter,ENST00000358577,;MICAL1,stop_gained,p.Lys917Ter,ENST00000368952,;PPIL6,upstream_gene_variant,,ENST00000440797,;SMPD2,downstream_gene_variant,,ENST00000258052,;PPIL6,upstream_gene_variant,,ENST00000521072,;PPIL6,upstream_gene_variant,,ENST00000424445,;SMPD2,downstream_gene_variant,,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000417394,;PPIL6,upstream_gene_variant,,ENST00000518648,;MICAL1,downstream_gene_variant,,ENST00000433205,;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,;MICAL1,non_coding_transcript_exon_variant,,ENST00000465904,;PPIL6,upstream_gene_variant,,ENST00000447468,;SMPD2,downstream_gene_variant,,ENST00000439615,;	3004	44	64	SUCCESS
FIG4	9896	.	GRCh37	6	110081565	110081565	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	91	0	ENST00000230124.3:c.1250A>T	p.Asp417Val	p.D417V	ENST00000230124	NM_014845.5	417	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS5078.1	1250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGACATGG	NONE	.	.	PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9,Pfam_domain:PF02383	.	.	ENSP00000230124	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,missense_variant,p.Asp140Val,ENST00000441478,;FIG4,missense_variant,p.Asp417Val,ENST00000230124,;	1374	91	74	SUCCESS
GTF3C6	112495	.	GRCh37	6	111280446	111280446	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1410220748	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	59	0	ENST00000329970.7:c.129C>A	p.Cys43Ter	p.C43*	ENST00000329970	NM_138408.3	43	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS5087.1	129	MUSE|VARSCANS	.	AAATGCAAGGT	NONE	.	.	hmmpanther:PTHR21860,hmmpanther:PTHR21860:SF2,Pfam_domain:PF10419	.	.	ENSP00000357863	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000329970	Transcript	.	.	ENSG00000155115	20872	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TF3C6_HUMAN	GTF3C6	HGNC	.	.	UPI000006D469	SNV	GTF3C6,stop_gained,p.Cys43Ter,ENST00000329970,;snoU13,upstream_gene_variant,,ENST00000458794,;GTF3C6,non_coding_transcript_exon_variant,,ENST00000480191,;	339	59	57	SUCCESS
REV3L	5980	.	GRCh37	6	111696479	111696479	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747835762	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	45	0	ENST00000358835.3:c.3079G>T	p.Val1027Phe	p.V1027F	ENST00000358835		1027	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS5091.2	3079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAACTTTTG	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	rs747835762	14/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Val949Phe,ENST00000435970,;REV3L,missense_variant,p.Val1027Phe,ENST00000358835,;REV3L,missense_variant,p.Val1027Phe,ENST00000368802,;REV3L,missense_variant,p.Val1027Phe,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	3534	45	49	SUCCESS
DSE	29940	.	GRCh37	6	116757490	116757490	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	72	0	ENST00000331677.3:c.1859A>G	p.Asp620Gly	p.D620G	ENST00000331677		620	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5107.1	1859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGACGATA	NONE	.	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532	.	.	ENSP00000332151	.	7/7	.	.	.	.	.	.	.	.	COSM3857724	7/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0.04)	1	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,missense_variant,p.Asp620Gly,ENST00000452085,;DSE,missense_variant,p.Asp620Gly,ENST00000331677,;DSE,missense_variant,p.Asp639Gly,ENST00000537543,;DSE,missense_variant,p.Asp620Gly,ENST00000359564,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	2303	72	93	SUCCESS
L3MBTL3	84456	.	GRCh37	6	130415451	130415451	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	64	0	ENST00000361794.2:c.1675T>C	p.Ser559Pro	p.S559P	ENST00000361794	NM_032438.2	559	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS34537.1	1675	RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTCAACC	NONE	.	.	Superfamily_domains:SSF63748,hmmpanther:PTHR12247:SF72,hmmpanther:PTHR12247	.	.	ENSP00000431962	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000529410	Transcript	.	.	ENSG00000198945	23035	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	LMBL3_HUMAN	L3MBTL3	HGNC	E9PLL7_HUMAN	.	UPI00001C1E3E	SNV	L3MBTL3,missense_variant,p.Ser559Pro,ENST00000361794,;L3MBTL3,missense_variant,p.Ser534Pro,ENST00000368139,;L3MBTL3,missense_variant,p.Ser534Pro,ENST00000533560,;L3MBTL3,missense_variant,p.Ser559Pro,ENST00000368136,;L3MBTL3,missense_variant,p.Ser534Pro,ENST00000526019,;L3MBTL3,missense_variant,p.Ser559Pro,ENST00000529410,;L3MBTL3,downstream_gene_variant,,ENST00000533890,;	2154	64	71	SUCCESS
HIVEP2	3097	.	GRCh37	6	143090697	143090697	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	46	50	0	ENST00000012134.2:c.5179T>C	p.Phe1727Leu	p.F1727L	ENST00000012134		1727	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS43510.1	5179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAACTGCT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53	.	.	ENSP00000356575	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367603	Transcript	.	.	ENSG00000010818	4921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.18)	.	ZEP2_HUMAN	HIVEP2	HGNC	B4DKE9_HUMAN	.	UPI00004708DD	SNV	HIVEP2,missense_variant,p.Phe1727Leu,ENST00000367603,;HIVEP2,missense_variant,p.Phe1727Leu,ENST00000012134,;HIVEP2,missense_variant,p.Phe1727Leu,ENST00000367604,;	5922	50	63	SUCCESS
ADGB	79747	.	GRCh37	6	147067116	147067116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs554299523	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	69	0	ENST00000397944.3:c.3236G>A	p.Arg1079Gln	p.R1079Q	ENST00000397944	NM_024694.3	1079	cGa/cAa	0	.	A:0	.	A:0.0014	.	A	R/Q	protein_coding	YES	.	3236	RADIA|MUTECT|MUSE	.	CTCACGATGGA	NONE	by1000G	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283	A:0	.	ENSP00000381036	A:0	26/36	.	.	.	.	.	.	.	.	rs554299523	26/36	PASS	ENST00000397944	Transcript	.	A:0.0002	ENSG00000118492	21212	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.043)	A:0	tolerated(0.11)	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,missense_variant,p.Arg498Gln,ENST00000367493,;ADGB,missense_variant,p.Arg141Gln,ENST00000367490,;ADGB,missense_variant,p.Arg1079Gln,ENST00000397944,;ADGB,missense_variant,p.Arg499Gln,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;	3312	69	89	SUCCESS
KATNBL1P6	729176	.	GRCh37	6	147123993	147123993	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	355	59	432	0	ENST00000562413.2:n.968G>C		p.*323*	ENST00000562413				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TGGAACCAAAG	NONE	.	.	.	.	.	ENSP00000381036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODIFIER	35/35	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,intron_variant,,ENST00000367493,;ADGB,intron_variant,,ENST00000367490,;ADGB,intron_variant,,ENST00000367489,;ADGB,intron_variant,,ENST00000397944,;ADGB,intron_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000562413,;ADGB,intron_variant,,ENST00000493950,;ADGB,intron_variant,,ENST00000480328,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000453433,;	.	432	414	SUCCESS
KATNBL1P6	729176	.	GRCh37	6	147124002	147124002	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	354	59	428	0	ENST00000562413.2:n.959C>A		p.*320*	ENST00000562413				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	AGTAAGATGGT	NONE	.	.	.	.	.	ENSP00000381036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODIFIER	35/35	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,intron_variant,,ENST00000367493,;ADGB,intron_variant,,ENST00000367490,;ADGB,intron_variant,,ENST00000367489,;ADGB,intron_variant,,ENST00000397944,;ADGB,intron_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000562413,;ADGB,intron_variant,,ENST00000493950,;ADGB,intron_variant,,ENST00000480328,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000453433,;	.	428	413	SUCCESS
SYNE1	23345	.	GRCh37	6	152652650	152652650	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	68	127	0	ENST00000367255.5:c.13170C>T	p.Ile4390=	p.I4390=	ENST00000367255	NM_182961.3	4390	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5236.2	13170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGATGGC	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	78/146	.	.	.	.	.	.	.	.	.	78/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;	13772	127	100	SUCCESS
JARID2	3720	.	GRCh37	6	15501254	15501254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	92	0	ENST00000341776.2:c.2062A>G	p.Arg688Gly	p.R688G	ENST00000341776	NM_004973.3	688	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS4533.1	2062	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAGAACT	NONE	.	.	PROSITE_profiles:PS51011,hmmpanther:PTHR10694,Gene3D:1.10.150.60,Pfam_domain:PF01388,SMART_domains:SM01014,SMART_domains:SM00501,Superfamily_domains:SSF46774	.	.	ENSP00000341280	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	deleterious(0)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Arg516Gly,ENST00000397311,;JARID2,missense_variant,p.Arg650Gly,ENST00000541660,;JARID2,missense_variant,p.Arg688Gly,ENST00000341776,;JARID2,upstream_gene_variant,,ENST00000474854,;	2306	92	73	SUCCESS
NOX3	50508	.	GRCh37	6	155776020	155776020	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	66	0	ENST00000159060.2:c.180C>T	p.Cys60=	p.C60=	ENST00000159060	NM_015718.2	60	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS5250.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGCACAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Pfam_domain:PF01794	.	.	ENSP00000159060	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,synonymous_variant,p.%3D,ENST00000159060,;	283	66	86	SUCCESS
FNDC1	84624	.	GRCh37	6	159650876	159650876	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	56	0	ENST00000297267.9:c.1210A>C	p.Lys404Gln	p.K404Q	ENST00000297267	NM_032532.2	404	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS47512.1	1210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCAAACCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000297267	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Lys404Gln,ENST00000297267,;FNDC1,intron_variant,,ENST00000340366,;FNDC1,intron_variant,,ENST00000329629,;FNDC1,downstream_gene_variant,,ENST00000480856,;	1410	56	74	SUCCESS
T	0	.	GRCh37	6	166581103	166581103	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs766904827	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	24	0	ENST00000296946.2:c.-24C>T		p.*8*	ENST00000296946	NM_003181.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5290.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGCCGTC	NONE	byFrequency	.	.	.	.	ENSP00000296946	.	2/9	.	.	.	.	.	.	.	.	rs766904827	2/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,5_prime_UTR_variant,,ENST00000461348,;T,5_prime_UTR_variant,,ENST00000366876,;T,5_prime_UTR_variant,,ENST00000366871,;T,5_prime_UTR_variant,,ENST00000296946,;	446	24	21	SUCCESS
MLLT4	0	.	GRCh37	6	168352222	168352222	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	45	0	ENST00000447894.2:c.4167A>T	p.Pro1389=	p.P1389=	ENST00000447894		1389	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47517.1	4167	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCACCACC	NONE	.	.	hmmpanther:PTHR10398,Low_complexity_(Seg):seg	.	.	ENSP00000375956	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000392108	Transcript	.	.	ENSG00000130396	7137	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AFAD_HUMAN	MLLT4	HGNC	.	.	UPI0000711FD9	SNV	MLLT4,synonymous_variant,p.%3D,ENST00000351017,;MLLT4,synonymous_variant,p.%3D,ENST00000447894,;MLLT4,synonymous_variant,p.%3D,ENST00000392108,;MLLT4,synonymous_variant,p.%3D,ENST00000392112,;MLLT4,synonymous_variant,p.%3D,ENST00000344191,;MLLT4,synonymous_variant,p.%3D,ENST00000400822,;MLLT4,synonymous_variant,p.%3D,ENST00000366806,;MLLT4,upstream_gene_variant,,ENST00000507704,;MLLT4,upstream_gene_variant,,ENST00000476946,;MLLT4,downstream_gene_variant,,ENST00000507679,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,downstream_gene_variant,,ENST00000509296,;	4309	45	64	SUCCESS
OR2B2	81697	.	GRCh37	6	27879561	27879561	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	69	0	ENST00000303324.2:c.537T>C	p.Cys179=	p.C179=	ENST00000303324	NM_033057.2	179	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS4641.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCACAGAA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453:SF115,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000304419	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303324	Transcript	.	.	ENSG00000168131	13966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2B2_HUMAN	OR2B2	HGNC	Q6IFA1_HUMAN	.	UPI000004187A	SNV	OR2B2,synonymous_variant,p.%3D,ENST00000303324,;	614	69	73	SUCCESS
TRIM27	5987	.	GRCh37	6	28876789	28876789	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	40	126	0	ENST00000377199.3:c.847A>T	p.Lys283Ter	p.K283*	ENST00000377199	NM_006510.4	283	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4654.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTTTGGG	NONE	.	.	hmmpanther:PTHR24103:SF271,hmmpanther:PTHR24103	.	.	ENSP00000366404	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000377199	Transcript	.	.	ENSG00000204713	9975	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI27_HUMAN	TRIM27	HGNC	Q9NZT8_HUMAN	.	UPI0000000DCE	SNV	TRIM27,stop_gained,p.Lys283Ter,ENST00000377199,;TRIM27,stop_gained,p.Lys283Ter,ENST00000377194,;TRIM27,upstream_gene_variant,,ENST00000414543,;TRIM27,downstream_gene_variant,,ENST00000498117,;TRIM27,upstream_gene_variant,,ENST00000467742,;TRIM27,non_coding_transcript_exon_variant,,ENST00000481474,;	1204	126	183	SUCCESS
ZNF311	282890	.	GRCh37	6	28963167	28963167	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	109	0	ENST00000377179.3:c.1612G>T	p.Gly538Trp	p.G538W	ENST00000377179	NM_001010877.2	538	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS34357.1	1612	MUTECT|MUSE|VARSCANS	.	CTTCCCACTGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF273,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000366384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377179	Transcript	.	.	ENSG00000197935	13847	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.922)	.	tolerated(0.06)	.	ZN311_HUMAN	ZNF311	HGNC	.	.	UPI000020D71E	SNV	ZNF311,missense_variant,p.Gly538Trp,ENST00000377179,;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,;	2125	109	82	SUCCESS
OR12D3	81797	.	GRCh37	6	29342442	29342442	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	69	0	ENST00000396806.3:c.623del	p.Ala208ValfsTer4	p.A208Vfs*4	ENST00000396806	NM_030959.2	208	gCt/gt	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS4658.1	623	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGAAAGCTCCC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF193,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000380023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000396806	Transcript	.	.	ENSG00000112462	13963	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O12D3_HUMAN	OR12D3	HGNC	D2XT27_HUMAN	.	UPI000000DCA9	deletion	OR12D3,frameshift_variant,p.Ala208ValfsTer4,ENST00000396806,;OR5V1,intron_variant,,ENST00000377154,;	627	69	74	SUCCESS
ATF6B	1388	.	GRCh37	6	32085719	32085719	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	84	0	ENST00000375203.3:c.1341A>T	p.Pro447=	p.P447=	ENST00000375203	NM_001136153.1	447	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4737.1	1341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACTGGCTC	NONE	.	.	hmmpanther:PTHR22952:SF107,hmmpanther:PTHR22952	.	.	ENSP00000364349	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000375203	Transcript	.	.	ENSG00000213676	2349	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATF6B_HUMAN	ATF6B	HGNC	.	.	UPI00001261C8	SNV	ATF6B,synonymous_variant,p.%3D,ENST00000375201,;ATF6B,synonymous_variant,p.%3D,ENST00000375203,;TNXB,upstream_gene_variant,,ENST00000442721,;ATF6B,upstream_gene_variant,,ENST00000453203,;ATF6B,upstream_gene_variant,,ENST00000494022,;ATF6B,downstream_gene_variant,,ENST00000485314,;ATF6B,downstream_gene_variant,,ENST00000495579,;ATF6B,downstream_gene_variant,,ENST00000475705,;ATF6B,downstream_gene_variant,,ENST00000492342,;	1374	84	100	SUCCESS
NOTCH4	4855	.	GRCh37	6	32163815	32163815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	9	0	ENST00000375023.3:c.5411C>T	p.Ala1804Val	p.A1804V	ENST00000375023	NM_004557.3	1804	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34420.1	5411	MUTECT|MUSE|VARSCANS	.	CGTCCGCCGGC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24033,Gene3D:1.25.40.20,PIRSF_domain:PIRSF002279,Superfamily_domains:SSF48403	.	.	ENSP00000364163	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.075)	.	tolerated(0.07)	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Ala1804Val,ENST00000375023,;NOTCH4,synonymous_variant,p.%3D,ENST00000443903,;GPSM3,upstream_gene_variant,,ENST00000487761,;GPSM3,upstream_gene_variant,,ENST00000375043,;GPSM3,upstream_gene_variant,,ENST00000375040,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	5550	9	17	SUCCESS
RCAN2	10231	.	GRCh37	6	46424645	46424645	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	65	0	ENST00000371374.1:c.69A>G	p.Gly23=	p.G23=	ENST00000371374	NM_001251974.1	23	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS59023.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTCCATC	NONE	.	.	hmmpanther:PTHR10300:SF5,hmmpanther:PTHR10300	.	.	ENSP00000360425	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000371374	Transcript	.	.	ENSG00000172348	3041	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCAN2_HUMAN	RCAN2	HGNC	.	.	UPI00001AEE48	SNV	RCAN2,synonymous_variant,p.%3D,ENST00000371374,;RCAN2,synonymous_variant,p.%3D,ENST00000405162,;RCAN2,synonymous_variant,p.%3D,ENST00000306764,;	261	65	82	SUCCESS
GPR116	0	.	GRCh37	6	46828555	46828555	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375753155	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	86	0	ENST00000265417.7:c.2276C>T	p.Ala759Val	p.A759V	ENST00000265417	NM_015234.4	759	gCg/gTg	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS4919.1	2276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCGCTTTG	NONE	byCluster	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272	.	A:0	ENSP00000283296	.	16/21	.	.	.	.	.	.	.	.	rs375753155	16/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	SNV	GPR116,missense_variant,p.Ala188Val,ENST00000545669,;GPR116,missense_variant,p.Ala759Val,ENST00000265417,;GPR116,missense_variant,p.Ala617Val,ENST00000456426,;GPR116,missense_variant,p.Ala759Val,ENST00000283296,;GPR116,missense_variant,p.Ala759Val,ENST00000362015,;GPR116,non_coding_transcript_exon_variant,,ENST00000498632,;	2565	86	73	SUCCESS
DEFB113	245927	.	GRCh37	6	49937328	49937328	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	49	0	ENST00000398718.1:c.11T>G	p.Leu4Arg	p.L4R	ENST00000398718	NM_001037729.1	4	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS43472.1	11	MUTECT|MUSE|VARSCANS	.	TACAAAGTATC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257	.	.	ENSP00000381703	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000398718	Transcript	.	.	ENSG00000214642	18094	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.488)	.	deleterious_low_confidence(0)	.	DB113_HUMAN	DEFB113	HGNC	.	.	UPI00005E4A72	SNV	DEFB113,missense_variant,p.Leu4Arg,ENST00000398718,;	11	49	79	SUCCESS
BAI3	0	.	GRCh37	6	70092727	70092727	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	74	0	ENST00000370598.1:c.4280T>C	p.Val1427Ala	p.V1427A	ENST00000370598	NM_001704.2	1427	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4968.1	4280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTCATGC	NONE	.	.	.	.	.	ENSP00000359630	.	31/32	.	.	.	.	.	.	.	.	COSM597266	31/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.901)	.	deleterious(0)	1	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,missense_variant,p.Val391Ala,ENST00000546190,;BAI3,missense_variant,p.Val633Ala,ENST00000238918,;BAI3,missense_variant,p.Val1427Ala,ENST00000370598,;	5101	74	69	SUCCESS
C6orf57	0	.	GRCh37	6	71289154	71289154	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	28	88	0	ENST00000370474.3:c.102T>G	p.Ser34Arg	p.S34R	ENST00000370474	NM_145267.2	34	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS4972.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGTTCTTC	NONE	.	.	.	.	.	ENSP00000359505	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370474	Transcript	.	.	ENSG00000154079	20957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.09)	.	CF057_HUMAN	C6orf57	HGNC	.	.	UPI000013DD88	SNV	C6orf57,missense_variant,p.Ser34Arg,ENST00000370474,;	126	88	96	SUCCESS
CD109	135228	.	GRCh37	6	74407156	74407156	+	synonymous_variant	Silent	SNP	C	C	T	rs776339213	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	66	0	ENST00000287097.5:c.108C>T	p.Ile36=	p.I36=	ENST00000287097		36	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4982.1	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCAGGCC	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	.	.	ENSP00000287097	.	2/33	.	.	.	.	.	.	.	.	rs776339213	2/33	PASS	ENST00000287097	Transcript	.	.	ENSG00000156535	21685	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD109_HUMAN	CD109	HGNC	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN	.	UPI000013DE92	SNV	CD109,synonymous_variant,p.%3D,ENST00000287097,;CD109,synonymous_variant,p.%3D,ENST00000437994,;CD109,synonymous_variant,p.%3D,ENST00000422508,;RP11-553A21.3,upstream_gene_variant,,ENST00000428865,;	220	66	68	SUCCESS
HTR1B	3351	.	GRCh37	6	78172967	78172967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	88	151	0	ENST00000369947.2:c.154C>A	p.Leu52Met	p.L52M	ENST00000369947	NM_000863.1	52	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS4986.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGCAGTA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF16,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00513	.	.	ENSP00000358963	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369947	Transcript	.	.	ENSG00000135312	5287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	deleterious(0)	.	5HT1B_HUMAN	HTR1B	HGNC	.	.	UPI00000007CB	SNV	HTR1B,missense_variant,p.Leu52Met,ENST00000369947,;	524	151	139	SUCCESS
DOPEY1	0	.	GRCh37	6	83862023	83862023	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	117	0	ENST00000349129.2:c.6066A>G	p.Ala2022=	p.A2022=	ENST00000349129	NM_015018.3	2022	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS4996.1	6066	RADIA|MUTECT|MUSE	.	CCTGCAATGGA	NONE	.	.	hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	.	ENSP00000195654	.	30/39	.	.	.	.	.	.	.	.	.	30/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,synonymous_variant,p.%3D,ENST00000369739,;DOPEY1,synonymous_variant,p.%3D,ENST00000349129,;DOPEY1,intron_variant,,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,upstream_gene_variant,,ENST00000481979,;	6326	117	102	SUCCESS
DOPEY1	0	.	GRCh37	6	83862028	83862028	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	116	0	ENST00000349129.2:c.6071A>C	p.Glu2024Ala	p.E2024A	ENST00000349129	NM_015018.3	2024	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS4996.1	6071	RADIA|MUTECT|MUSE	.	AATGGAAACCG	NONE	.	.	hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	.	ENSP00000195654	.	30/39	.	.	.	.	.	.	.	.	.	30/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.138)	.	tolerated(0.8)	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,missense_variant,p.Glu2015Ala,ENST00000369739,;DOPEY1,missense_variant,p.Glu2024Ala,ENST00000349129,;DOPEY1,intron_variant,,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,upstream_gene_variant,,ENST00000481979,;	6331	116	101	SUCCESS
FUT9	10690	.	GRCh37	6	96651917	96651917	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	49	0	ENST00000302103.5:c.886A>T	p.Ser296Cys	p.S296C	ENST00000302103	NM_006581.3	296	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS5033.1	886	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCAGTGAG	NONE	.	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	COSM1207669	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.656)	.	deleterious(0)	1	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,missense_variant,p.Ser296Cys,ENST00000302103,;	1212	49	52	SUCCESS
TMEM168	64418	.	GRCh37	7	112412840	112412840	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	35	180	0	ENST00000312814.6:c.1542A>T	p.Leu514=	p.L514=	ENST00000312814	NM_001287497.1	514	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5757.1	1542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTAGAGC	NONE	.	.	hmmpanther:PTHR14437:SF2,hmmpanther:PTHR14437	.	.	ENSP00000323068	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000312814	Transcript	.	.	ENSG00000146802	25826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM168_HUMAN	TMEM168	HGNC	C9JVE9_HUMAN,C9IZT1_HUMAN,B4DDS0_HUMAN	.	UPI000004DACB	SNV	TMEM168,synonymous_variant,p.%3D,ENST00000418785,;TMEM168,synonymous_variant,p.%3D,ENST00000454074,;TMEM168,synonymous_variant,p.%3D,ENST00000447395,;TMEM168,synonymous_variant,p.%3D,ENST00000312814,;TMEM168,downstream_gene_variant,,ENST00000441474,;TMEM168,downstream_gene_variant,,ENST00000449743,;TMEM168,downstream_gene_variant,,ENST00000480969,;	2103	180	132	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121653534	121653534	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	87	0	ENST00000393386.2:c.4434T>A	p.Ser1478=	p.S1478=	ENST00000393386	NM_001206838.1	1478	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34740.1	4434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCTGAGAA	BUFFER|p.E1479D|c.4437G>T|3,BUFFER|p.E1479D|c.4437G>T|3	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,synonymous_variant,p.%3D,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,downstream_gene_variant,,ENST00000483028,;	4845	87	66	SUCCESS
GCC1	79571	.	GRCh37	7	127222729	127222729	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	45	0	ENST00000321407.2:c.1667T>A	p.Leu556Gln	p.L556Q	ENST00000321407	NM_024523.5	556	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS5796.1	1667	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCAGCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25	.	.	ENSP00000318821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321407	Transcript	.	.	ENSG00000179562	19095	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated(0.12)	.	GCC1_HUMAN	GCC1	HGNC	A4D0Z4_HUMAN	.	UPI0000072BA8	SNV	GCC1,missense_variant,p.Leu556Gln,ENST00000321407,;GCC1,downstream_gene_variant,,ENST00000497650,;	2092	45	32	SUCCESS
CHRM2	1129	.	GRCh37	7	136700208	136700208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	62	0	ENST00000320658.5:c.596T>C	p.Val199Ala	p.V199A	ENST00000320658	NM_001006632.1	199	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS5843.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTGATCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.669)	.	deleterious(0.03)	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,missense_variant,p.Val199Ala,ENST00000320658,;CHRM2,missense_variant,p.Val199Ala,ENST00000401861,;CHRM2,missense_variant,p.Val199Ala,ENST00000397608,;CHRM2,missense_variant,p.Val199Ala,ENST00000402486,;CHRM2,missense_variant,p.Val199Ala,ENST00000453373,;CHRM2,missense_variant,p.Val199Ala,ENST00000445907,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	1124	62	53	SUCCESS
AKR1D1	6718	.	GRCh37	7	137776523	137776523	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	63	0	ENST00000242375.3:c.271A>G	p.Thr91Ala	p.T91A	ENST00000242375	NM_005989.3	91	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5846.1	271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTACAAAT	NONE	.	.	hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	.	.	ENSP00000242375	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000242375	Transcript	.	.	ENSG00000122787	388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	AK1D1_HUMAN	AKR1D1	HGNC	C4PL35_HUMAN	.	UPI0000125764	SNV	AKR1D1,missense_variant,p.Thr35Ala,ENST00000438242,;AKR1D1,missense_variant,p.Thr91Ala,ENST00000432161,;AKR1D1,missense_variant,p.Thr91Ala,ENST00000411726,;AKR1D1,missense_variant,p.Thr91Ala,ENST00000242375,;RN7SKP223,downstream_gene_variant,,ENST00000410582,;AKR1D1,intron_variant,,ENST00000468877,;AKR1D1,upstream_gene_variant,,ENST00000470851,;	313	63	69	SUCCESS
CLCN1	1180	.	GRCh37	7	143021573	143021573	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	94	0	ENST00000343257.2:c.841A>G	p.Thr281Ala	p.T281A	ENST00000343257	NM_000083.2	281	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5881.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGACACCA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00762,Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	.	.	ENSP00000339867	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000343257	Transcript	.	.	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(1)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Thr281Ala,ENST00000343257,;CLCN1,intron_variant,,ENST00000495612,;CLCN1,3_prime_UTR_variant,,ENST00000455478,;CLCN1,3_prime_UTR_variant,,ENST00000432192,;	928	94	91	SUCCESS
GIMAP8	155038	.	GRCh37	7	150164267	150164267	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	61	0	ENST00000307271.3:c.481T>A	p.Tyr161Asn	p.Y161N	ENST00000307271	NM_175571.2	161	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS34777.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACTATGAG	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF45,PROSITE_profiles:PS51720	.	.	ENSP00000305107	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000307271	Transcript	.	.	ENSG00000171115	21792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	GIMA8_HUMAN	GIMAP8	HGNC	.	.	UPI0000168646	SNV	GIMAP8,missense_variant,p.Tyr161Asn,ENST00000307271,;	1055	61	81	SUCCESS
GALNT11	63917	.	GRCh37	7	151810421	151810421	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	115	0	ENST00000430044.2:c.1171G>C	p.Gly391Arg	p.G391R	ENST00000430044	NM_022087.2	391	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS5930.1	1171	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAAGGCCAG	BUFFER|p.E390K|c.1168G>A|3	.	.	hmmpanther:PTHR11675:SF10,hmmpanther:PTHR11675,Superfamily_domains:SSF53448	.	.	ENSP00000416787	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000434507	Transcript	.	.	ENSG00000178234	19875	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	tolerated(0.09)	.	GLT11_HUMAN	GALNT11	HGNC	C9JMT8_HUMAN,C9J8A7_HUMAN,C9J111_HUMAN	.	UPI000004C2AA	SNV	GALNT11,missense_variant,p.Gly391Arg,ENST00000430044,;GALNT11,missense_variant,p.Gly391Arg,ENST00000320311,;GALNT11,missense_variant,p.Gly391Arg,ENST00000434507,;GALNT11,missense_variant,p.Gly310Arg,ENST00000452146,;GALNT11,missense_variant,p.Gly32Arg,ENST00000431940,;GALNT11,3_prime_UTR_variant,,ENST00000447778,;GALNT11,non_coding_transcript_exon_variant,,ENST00000491061,;	1608	115	97	SUCCESS
KMT2C	58508	.	GRCh37	7	152133039	152133039	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	31	0	ENST00000262189.6:c.-168A>G		p.*56*	ENST00000262189	NM_170606.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5931.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATGGAGC	NONE	.	.	.	.	.	ENSP00000262189	.	1/59	.	.	.	.	.	.	.	.	.	1/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,5_prime_UTR_variant,,ENST00000355193,;KMT2C,5_prime_UTR_variant,,ENST00000262189,;KMT2C,upstream_gene_variant,,ENST00000452749,;AC005631.1,upstream_gene_variant,,ENST00000408527,;FABP5P3,upstream_gene_variant,,ENST00000477993,;KMT2C,5_prime_UTR_variant,,ENST00000558084,;	52	31	53	SUCCESS
AC008060.7	0	.	GRCh37	7	155187808	155187808	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	74	197	0	ENST00000401499.1:c.260A>G	p.Asp87Gly	p.D87G	ENST00000401499		87	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	.	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGACAGTC	NONE	.	.	.	.	.	ENSP00000384676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000401499	Transcript	.	.	ENSG00000218672	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.737)	.	.	.	.	AC008060.7	Clone_based_vega_gene	A4D251_HUMAN	.	UPI000016064A	SNV	AC008060.7,missense_variant,p.Asp87Gly,ENST00000401499,;RP5-912I13.1,upstream_gene_variant,,ENST00000569431,;	308	197	174	SUCCESS
STK31	56164	.	GRCh37	7	23766879	23766879	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	99	0	ENST00000355870.3:c.269C>T	p.Ser90Phe	p.S90F	ENST00000355870	NM_031414.4	90	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS5386.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTGAAG	NONE	.	.	PROSITE_profiles:PS50304,hmmpanther:PTHR12302:SF0,hmmpanther:PTHR12302,Pfam_domain:PF00567,Gene3D:2.30.30.140,SMART_domains:SM00333,Superfamily_domains:SSF63748	.	.	ENSP00000348132	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000355870	Transcript	.	.	ENSG00000196335	11407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.05)	.	STK31_HUMAN	STK31	HGNC	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN	.	UPI0000167B73	SNV	STK31,missense_variant,p.Ser67Phe,ENST00000456014,;STK31,missense_variant,p.Ser90Phe,ENST00000355870,;STK31,missense_variant,p.Ser67Phe,ENST00000444333,;STK31,missense_variant,p.Ser67Phe,ENST00000428484,;STK31,missense_variant,p.Ser67Phe,ENST00000354639,;STK31,missense_variant,p.Ser46Phe,ENST00000422637,;STK31,missense_variant,p.Ser90Phe,ENST00000433467,;STK31,non_coding_transcript_exon_variant,,ENST00000529549,;STK31,non_coding_transcript_exon_variant,,ENST00000528479,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,non_coding_transcript_exon_variant,,ENST00000461866,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;	388	99	70	SUCCESS
LFNG	3955	.	GRCh37	7	2565185	2565185	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	41	0	ENST00000222725.5:c.719T>A	p.Val240Asp	p.V240D	ENST00000222725	NM_001040167.1	240	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS34587.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCAGCG	NONE	.	.	PIRSF_domain:PIRSF038073,Pfam_domain:PF02434,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF7	.	.	ENSP00000222725	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000222725	Transcript	.	.	ENSG00000106003	6560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	deleterious(0.03)	.	LFNG_HUMAN	LFNG	HGNC	.	.	UPI000012E5D5	SNV	LFNG,missense_variant,p.Val169Asp,ENST00000402506,;LFNG,missense_variant,p.Val111Asp,ENST00000402045,;LFNG,missense_variant,p.Val240Asp,ENST00000222725,;LFNG,missense_variant,p.Val111Asp,ENST00000338732,;LFNG,missense_variant,p.Val240Asp,ENST00000359574,;MIR4648,upstream_gene_variant,,ENST00000580107,;LFNG,non_coding_transcript_exon_variant,,ENST00000493850,;	739	41	35	SUCCESS
HOXA11	3207	.	GRCh37	7	27224509	27224509	+	synonymous_variant	Silent	SNP	C	C	A	rs750664010	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	96	0	ENST00000006015.3:c.255G>T	p.Ala85=	p.A85=	ENST00000006015	NM_005523.5	85	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5411.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCGCGGA	NONE	.	.	Pfam_domain:PF12045,hmmpanther:PTHR24326:SF50,hmmpanther:PTHR24326	.	.	ENSP00000006015	.	1/2	.	.	.	.	.	.	.	.	rs750664010	1/2	PASS	ENST00000006015	Transcript	.	.	ENSG00000005073	5101	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA11_HUMAN	HOXA11	HGNC	.	.	UPI000000D992	SNV	HOXA11,synonymous_variant,p.%3D,ENST00000517402,;HOXA11,synonymous_variant,p.%3D,ENST00000006015,;HOXA10,upstream_gene_variant,,ENST00000396344,;RP1-170O19.20,upstream_gene_variant,,ENST00000470747,;RP1-170O19.14,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000522863,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;	327	96	66	SUCCESS
STK17A	9263	.	GRCh37	7	43647961	43647961	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs781089301	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	156	0	ENST00000319357.5:c.526T>G	p.Phe176Val	p.F176V	ENST00000319357	NM_004760.2	176	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS5470.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTTTTTA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF6,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000319192	.	3/7	.	.	.	.	.	.	.	.	rs781089301	3/7	PASS	ENST00000319357	Transcript	.	.	ENSG00000164543	11395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.686)	.	deleterious(0.01)	.	ST17A_HUMAN	STK17A	HGNC	Q86UI9_HUMAN,Q75MK4_HUMAN	.	UPI00001405A1	SNV	STK17A,missense_variant,p.Phe176Val,ENST00000319357,;STK17A,non_coding_transcript_exon_variant,,ENST00000462448,;COA1,downstream_gene_variant,,ENST00000415076,;COA1,downstream_gene_variant,,ENST00000446564,;COA1,downstream_gene_variant,,ENST00000446330,;	705	156	126	SUCCESS
URGCP	55665	.	GRCh37	7	43927483	43927483	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	98	0	ENST00000453200.1:c.15-68A>T		p.*5*	ENST00000453200				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47578.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTGATGC	NONE	.	.	.	.	.	ENSP00000396918	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453200	Transcript	.	.	ENSG00000106608	30890	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	URGCP_HUMAN	URGCP	HGNC	C9JKA8_HUMAN,C9J0W2_HUMAN	.	UPI000020EE9D	SNV	URGCP,5_prime_UTR_variant,,ENST00000336086,;URGCP,intron_variant,,ENST00000447717,;URGCP,intron_variant,,ENST00000453200,;URGCP,intron_variant,,ENST00000455877,;URGCP,intron_variant,,ENST00000443736,;URGCP,intron_variant,,ENST00000223341,;URGCP,intron_variant,,ENST00000426198,;URGCP-MRPS24,intron_variant,,ENST00000603700,;URGCP,intron_variant,,ENST00000402306,;URGCP,intron_variant,,ENST00000446958,;URGCP,intron_variant,,ENST00000477768,;URGCP,intron_variant,,ENST00000497914,;URGCP,non_coding_transcript_exon_variant,,ENST00000478747,;URGCP,intron_variant,,ENST00000439702,;	.	98	78	SUCCESS
PKD1L1	168507	.	GRCh37	7	47870917	47870917	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754455591	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	111	0	ENST00000289672.2:c.6371A>G	p.Gln2124Arg	p.Q2124R	ENST00000289672	NM_138295.3	2124	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34633.1	6371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACTGGGGC	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	42/57	.	.	.	.	.	.	.	.	rs754455591	42/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Gln2124Arg,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;PKD1L1,upstream_gene_variant,,ENST00000483616,;	6422	111	90	SUCCESS
FOXK1	221937	.	GRCh37	7	4801902	4801902	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	35	108	0	ENST00000328914.4:c.2009A>T	p.Lys670Met	p.K670M	ENST00000328914	NM_001037165.1	670	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS34591.1	2009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAAGGAGC	NONE	.	.	hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829	.	.	ENSP00000328720	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000328914	Transcript	.	.	ENSG00000164916	23480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious_low_confidence(0.01)	.	FOXK1_HUMAN	FOXK1	HGNC	B3KV39_HUMAN	.	UPI00004158EB	SNV	FOXK1,missense_variant,p.Lys507Met,ENST00000446823,;FOXK1,missense_variant,p.Lys670Met,ENST00000328914,;FOXK1,downstream_gene_variant,,ENST00000496023,;	2009	108	108	SUCCESS
FIGNL1	63979	.	GRCh37	7	50514059	50514060	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	143	0	ENST00000356889.4:c.926dup	p.Tyr310ValfsTer22	p.Y310Vfs*22	ENST00000356889	NM_001287495.1	309	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS5510.1	926-927	INDELOCATOR|VARSCANI	.	TGGTACTTTTT	NONE	.	.	hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074	.	.	ENSP00000410811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000419119	Transcript	.	.	ENSG00000132436	13286	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FIGL1_HUMAN	FIGNL1	HGNC	C9JTG6_HUMAN,C9JTB2_HUMAN,C9JP37_HUMAN,C9JKI6_HUMAN,C9JHJ4_HUMAN	.	UPI000013CE5D	insertion	FIGNL1,frameshift_variant,p.Tyr310ValfsTer22,ENST00000433017,;FIGNL1,frameshift_variant,p.Tyr310ValfsTer22,ENST00000419119,;FIGNL1,frameshift_variant,p.Tyr310ValfsTer22,ENST00000356889,;FIGNL1,frameshift_variant,p.Tyr310ValfsTer22,ENST00000395556,;FIGNL1,downstream_gene_variant,,ENST00000422854,;FIGNL1,downstream_gene_variant,,ENST00000420829,;FIGNL1,downstream_gene_variant,,ENST00000448788,;FIGNL1,downstream_gene_variant,,ENST00000440350,;FIGNL1,downstream_gene_variant,,ENST00000436590,;FIGNL1,downstream_gene_variant,,ENST00000435566,;	2480-2481	143	102	SUCCESS
FSCN1	6624	.	GRCh37	7	5643005	5643005	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	64	0	ENST00000382361.3:c.950T>A	p.Leu317Gln	p.L317Q	ENST00000382361	NM_003088.3	317	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS5342.1	950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGACGG	NONE	.	.	hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF8,Gene3D:2.80.10.50,Pfam_domain:PF06268,PIRSF_domain:PIRSF005682,Superfamily_domains:SSF50405	.	.	ENSP00000371798	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000382361	Transcript	.	.	ENSG00000075618	11148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	FSCN1_HUMAN	FSCN1	HGNC	Q96IH1_HUMAN,H7BYX5_HUMAN,C9JPH9_HUMAN,C9JFC0_HUMAN,B3KTM9_HUMAN	.	UPI000003F063	SNV	FSCN1,missense_variant,p.Leu317Gln,ENST00000382361,;FSCN1,missense_variant,p.Leu39Gln,ENST00000447103,;FSCN1,missense_variant,p.Leu39Gln,ENST00000444748,;FSCN1,missense_variant,p.Leu39Gln,ENST00000405801,;FSCN1,missense_variant,p.Leu296Gln,ENST00000340250,;FSCN1,non_coding_transcript_exon_variant,,ENST00000473330,;	1064	64	58	SUCCESS
ZNF273	10793	.	GRCh37	7	64388967	64388967	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	21	135	0	ENST00000319636.5:c.1066A>G	p.Lys356Glu	p.K356E	ENST00000319636		356	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS5528.2	1261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATAAGAGA	BUFFER|p.R422I|c.1265G>T|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000418719	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000476120	Transcript	.	.	ENSG00000198039	13067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	deleterious(0.04)	.	ZN273_HUMAN	ZNF273	HGNC	.	.	UPI0000DACAC5	SNV	ZNF273,missense_variant,p.Lys421Glu,ENST00000476120,;ZNF273,missense_variant,p.Lys356Glu,ENST00000319636,;ZNF273,downstream_gene_variant,,ENST00000545510,;ZNF273,non_coding_transcript_exon_variant,,ENST00000527278,;ZNF273,downstream_gene_variant,,ENST00000489672,;ZNF273,3_prime_UTR_variant,,ENST00000395375,;VN1R42P,upstream_gene_variant,,ENST00000424651,;	1332	135	138	SUCCESS
CYP3A5	1577	.	GRCh37	7	99272195	99272195	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1368152429	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	20	63	0	ENST00000222982.4:c.179T>G	p.Phe60Cys	p.F60C	ENST00000222982	NM_000777.3	60	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS5672.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAAATTTC	NONE	.	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24302:SF3,hmmpanther:PTHR24302	.	.	ENSP00000222982	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,missense_variant,p.Phe60Cys,ENST00000222982,;CYP3A5,missense_variant,p.Phe60Cys,ENST00000439761,;CYP3A5,missense_variant,p.Phe50Cys,ENST00000343703,;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,3_prime_UTR_variant,,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;	279	63	40	SUCCESS
AZGP1	563	.	GRCh37	7	99569527	99569527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	76	0	ENST00000292401.4:c.179G>T	p.Arg60Ile	p.R60I	ENST00000292401	NM_001185.3	60	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS5680.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATCTAAAG	NONE	.	.	Superfamily_domains:SSF54452,Pfam_domain:PF00129,Gene3D:3.30.500.10,hmmpanther:PTHR16675:SF156,hmmpanther:PTHR16675	.	.	ENSP00000292401	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000292401	Transcript	.	.	ENSG00000160862	910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious(0.01)	.	ZA2G_HUMAN	AZGP1	HGNC	.	.	UPI00000720DE	SNV	AZGP1,missense_variant,p.Arg57Ile,ENST00000411734,;AZGP1,missense_variant,p.Arg31Ile,ENST00000419575,;AZGP1,missense_variant,p.Arg60Ile,ENST00000292401,;AZGP1,upstream_gene_variant,,ENST00000483612,;AZGP1,non_coding_transcript_exon_variant,,ENST00000495765,;AZGP1,upstream_gene_variant,,ENST00000477251,;	316	76	77	SUCCESS
FDFT1	2222	.	GRCh37	8	11660200	11660200	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	9	0	ENST00000220584.4:c.-142C>A		p.*48*	ENST00000220584	NM_004462.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5985.1	.	MUTECT|MUSE|VARSCANS	.	AGCGGCGGGCG	NONE	.	.	.	.	.	ENSP00000220584	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000220584	Transcript	.	.	ENSG00000079459	3629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FDFT_HUMAN	FDFT1	HGNC	Q6IAX1_HUMAN,E9PJG4_HUMAN,B7Z1J3_HUMAN,B4DT56_HUMAN,B3KQ95_HUMAN	.	UPI000012A5D5	SNV	FDFT1,5_prime_UTR_variant,,ENST00000220584,;FDFT1,intron_variant,,ENST00000538689,;FDFT1,intron_variant,,ENST00000530337,;FDFT1,upstream_gene_variant,,ENST00000443614,;FDFT1,upstream_gene_variant,,ENST00000528812,;RP11-297N6.4,upstream_gene_variant,,ENST00000533405,;FDFT1,upstream_gene_variant,,ENST00000525900,;FDFT1,non_coding_transcript_exon_variant,,ENST00000446331,;FDFT1,upstream_gene_variant,,ENST00000525551,;FDFT1,upstream_gene_variant,,ENST00000525571,;FDFT1,upstream_gene_variant,,ENST00000525283,;FDFT1,upstream_gene_variant,,ENST00000529464,;RP11-297N6.4,upstream_gene_variant,,ENST00000531395,;FDFT1,upstream_gene_variant,,ENST00000525607,;FDFT1,upstream_gene_variant,,ENST00000527045,;	81	9	16	SUCCESS
ADCY8	114	.	GRCh37	8	131797638	131797638	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	45	0	ENST00000286355.5:c.3144T>A	p.Pro1048=	p.P1048=	ENST00000286355	NM_001115.2	1048	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6363.1	3144	MUTECT|MUSE|VARSCANS	.	TTTTCAGGTGA	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;	5237	45	70	SUCCESS
ADCY8	114	.	GRCh37	8	131848557	131848557	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	43	93	0	ENST00000286355.5:c.2641T>C	p.Phe881Leu	p.F881L	ENST00000286355	NM_001115.2	881	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS6363.1	2641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAAGAGGC	BUFFER|p.Y877Y|c.2631C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	12/18	.	.	.	.	.	.	.	.	COSM1454850	12/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.041)	.	tolerated(0.1)	1	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Phe881Leu,ENST00000286355,;ADCY8,missense_variant,p.Phe750Leu,ENST00000377928,;	4734	93	120	SUCCESS
TG	7038	.	GRCh37	8	133935748	133935748	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	64	0	ENST00000220616.4:c.4694G>C	p.Cys1565Ser	p.C1565S	ENST00000220616	NM_003235.4	1565	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS34944.1	4694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGTTTGA	NONE	.	.	PIRSF_domain:PIRSF001831,SMART_domains:SM00211,Gene3D:4.10.800.10,PROSITE_profiles:PS51162	.	.	ENSP00000220616	.	22/48	.	.	.	.	.	.	.	.	.	22/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Cys1565Ser,ENST00000220616,;TG,missense_variant,p.Cys85Ser,ENST00000519178,;TG,5_prime_UTR_variant,,ENST00000542445,;TG,intron_variant,,ENST00000377869,;TG,3_prime_UTR_variant,,ENST00000523756,;	4734	64	80	SUCCESS
WISP1	0	.	GRCh37	8	134225330	134225330	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1205065236	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	32	156	0	ENST00000250160.6:c.293G>T	p.Gly98Val	p.G98V	ENST00000250160	NM_003882.3	98	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6371.1	293	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGCCTCT	NONE	.	.	PROSITE_profiles:PS51323,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF4,Pfam_domain:PF00219,SMART_domains:SM00121,PIRSF_domain:PIRSF036495,Superfamily_domains:SSF57184	.	.	ENSP00000250160	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000250160	Transcript	.	.	ENSG00000104415	12769	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WISP1_HUMAN	WISP1	HGNC	.	.	UPI00000359FE	SNV	WISP1,missense_variant,p.Gly98Val,ENST00000250160,;WISP1,missense_variant,p.Gly98Val,ENST00000517423,;WISP1,missense_variant,p.Gly98Val,ENST00000220856,;WISP1,intron_variant,,ENST00000377863,;WISP1,intron_variant,,ENST00000519433,;WISP1,intron_variant,,ENST00000377862,;	399	156	201	SUCCESS
PTK2	5747	.	GRCh37	8	141889628	141889628	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747807231	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	83	119	0	ENST00000521059.1:c.304A>G	p.Met102Val	p.M102V	ENST00000521059	NM_005607.4	102	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS56557.1	304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCATATCCA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000341189	.	4/33	.	.	.	.	.	.	.	.	rs747807231	4/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.23)	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,start_lost,p.Met1?,ENST00000520828,;PTK2,missense_variant,p.Met113Val,ENST00000519654,;PTK2,missense_variant,p.Met102Val,ENST00000521395,;PTK2,missense_variant,p.Met102Val,ENST00000340930,;PTK2,missense_variant,p.Met102Val,ENST00000535192,;PTK2,missense_variant,p.Met102Val,ENST00000523803,;PTK2,missense_variant,p.Met102Val,ENST00000522684,;PTK2,missense_variant,p.Met102Val,ENST00000520892,;PTK2,missense_variant,p.Met102Val,ENST00000521059,;PTK2,missense_variant,p.Met102Val,ENST00000521907,;PTK2,missense_variant,p.Met146Val,ENST00000519419,;PTK2,missense_variant,p.Met102Val,ENST00000395218,;PTK2,missense_variant,p.Met102Val,ENST00000520045,;PTK2,missense_variant,p.Met102Val,ENST00000517453,;PTK2,missense_variant,p.Met146Val,ENST00000517887,;PTK2,missense_variant,p.Met102Val,ENST00000520475,;PTK2,missense_variant,p.Met102Val,ENST00000519881,;PTK2,intron_variant,,ENST00000524357,;PTK2,intron_variant,,ENST00000523067,;PTK2,intron_variant,,ENST00000521791,;PTK2,intron_variant,,ENST00000519993,;	459	119	180	SUCCESS
ZFP41	286128	.	GRCh37	8	144332183	144332183	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	75	0	ENST00000330701.4:c.170A>T	p.Glu57Val	p.E57V	ENST00000330701	NM_173832.4	57	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6397.1	170	MUTECT|MUSE	.	AGACGAAGAGC	NONE	.	.	.	.	.	ENSP00000428966	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000522452	Transcript	.	.	ENSG00000264668	26786	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.301)	.	deleterious(0.01)	.	.	ZFP41	Uniprot_gn	.	.	UPI0000070522	SNV	ZFP41,missense_variant,p.Glu57Val,ENST00000522452,;ZFP41,missense_variant,p.Glu57Val,ENST00000520584,;ZFP41,missense_variant,p.Glu57Val,ENST00000330701,;ZFP41,downstream_gene_variant,,ENST00000517702,;ZFP41,downstream_gene_variant,,ENST00000522233,;	964	75	93	SUCCESS
PLEC	5339	.	GRCh37	8	145001890	145001890	+	synonymous_variant	Silent	SNP	G	G	A	rs782313733	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	47	0	ENST00000322810.4:c.3855C>T	p.Ala1285=	p.A1285=	ENST00000322810	NM_201380.2	1285	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43772.1	3855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGGCGTC	NONE	.	.	SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000323856	.	27/32	.	.	.	.	.	.	.	.	rs782313733	27/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,synonymous_variant,p.%3D,ENST00000322810,;PLEC,synonymous_variant,p.%3D,ENST00000527096,;PLEC,synonymous_variant,p.%3D,ENST00000345136,;PLEC,synonymous_variant,p.%3D,ENST00000357649,;PLEC,synonymous_variant,p.%3D,ENST00000398774,;PLEC,synonymous_variant,p.%3D,ENST00000354589,;PLEC,synonymous_variant,p.%3D,ENST00000356346,;PLEC,synonymous_variant,p.%3D,ENST00000436759,;PLEC,synonymous_variant,p.%3D,ENST00000354958,;PLEC,upstream_gene_variant,,ENST00000527303,;PLEC,downstream_gene_variant,,ENST00000528025,;	4025	47	57	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145758592	145758592	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144988605	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	38	0	ENST00000276826.5:c.2713G>A	p.Glu905Lys	p.E905K	ENST00000276826		905	Gag/Aag	0	G:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS34971.1	2806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTCGGGGT	NONE	byCluster	.	Superfamily_domains:SSF48350,Gene3D:1.10.555.10,hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177,PROSITE_profiles:PS50238	.	G:0.0002	ENSP00000366522	.	8/11	.	.	.	.	.	.	.	.	rs144988605	8/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.07)	.	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,missense_variant,p.Glu905Lys,ENST00000276826,;ARHGAP39,missense_variant,p.Glu905Lys,ENST00000540274,;ARHGAP39,missense_variant,p.Glu936Lys,ENST00000377307,;C8orf82,upstream_gene_variant,,ENST00000532827,;C8orf82,upstream_gene_variant,,ENST00000527462,;C8orf82,upstream_gene_variant,,ENST00000524821,;C8orf82,upstream_gene_variant,,ENST00000313465,;ARHGAP39,downstream_gene_variant,,ENST00000528810,;C8orf82,upstream_gene_variant,,ENST00000534680,;	2891	38	58	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145806392	145806392	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1305895460	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	39	0	ENST00000276826.5:c.350G>A	p.Arg117His	p.R117H	ENST00000276826		117	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34971.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGCGCGGG	NONE	.	.	hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177,Low_complexity_(Seg):seg	.	.	ENSP00000366522	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.07)	.	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,missense_variant,p.Arg117His,ENST00000540274,;ARHGAP39,missense_variant,p.Arg117His,ENST00000276826,;ARHGAP39,missense_variant,p.Arg117His,ENST00000377307,;CTD-2517M22.9,upstream_gene_variant,,ENST00000529377,;	435	39	51	SUCCESS
ZNF250	58500	.	GRCh37	8	146115758	146115758	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	38	0	ENST00000292579.7:c.-24T>C		p.*8*	ENST00000292579	NM_021061.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34972.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGAGGATC	NONE	.	.	.	.	.	ENSP00000292579	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000292579	Transcript	.	.	ENSG00000196150	13044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN250_HUMAN	ZNF250	HGNC	.	.	UPI0000197F51	SNV	ZNF250,5_prime_UTR_variant,,ENST00000292579,;ZNF250,5_prime_UTR_variant,,ENST00000533622,;ZNF250,5_prime_UTR_variant,,ENST00000417550,;ZNF250,5_prime_UTR_variant,,ENST00000533221,;ZNF250,5_prime_UTR_variant,,ENST00000342660,;ZNF250,5_prime_UTR_variant,,ENST00000527049,;ZNF250,5_prime_UTR_variant,,ENST00000543949,;ZNF250,5_prime_UTR_variant,,ENST00000525694,;ZNF250,5_prime_UTR_variant,,ENST00000529780,;ZNF250,5_prime_UTR_variant,,ENST00000528258,;ZNF250,5_prime_UTR_variant,,ENST00000533543,;ZNF250,non_coding_transcript_exon_variant,,ENST00000528028,;	94	38	79	SUCCESS
ADAMDEC1	27299	.	GRCh37	8	24254913	24254913	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	105	0	ENST00000256412.4:c.571A>G	p.Ser191Gly	p.S191G	ENST00000256412	NM_014479.3	191	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS6044.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGCACT	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125	.	.	ENSP00000256412	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000256412	Transcript	.	.	ENSG00000134028	16299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.1)	.	ADEC1_HUMAN	ADAMDEC1	HGNC	B7Z6U5_HUMAN	.	UPI0000073385	SNV	ADAMDEC1,missense_variant,p.Ser191Gly,ENST00000256412,;ADAMDEC1,missense_variant,p.Ser112Gly,ENST00000538205,;ADAMDEC1,missense_variant,p.Ser112Gly,ENST00000522298,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	791	105	81	SUCCESS
PTK2B	2185	.	GRCh37	8	27293843	27293843	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1355184213	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	119	0	ENST00000346049.5:c.1319A>G	p.Tyr440Cys	p.Y440C	ENST00000346049	NM_173176.2	440	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6057.1	1319	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTATGAAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00107,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF94,PROSITE_profiles:PS50011	.	.	ENSP00000380638	.	20/36	.	.	.	.	.	.	.	.	.	20/36	PASS	ENST00000397501	Transcript	.	.	ENSG00000120899	9612	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	FAK2_HUMAN	PTK2B	HGNC	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN	.	UPI000000D9EC	SNV	PTK2B,missense_variant,p.Tyr440Cys,ENST00000338238,;PTK2B,missense_variant,p.Tyr440Cys,ENST00000517339,;PTK2B,missense_variant,p.Tyr440Cys,ENST00000420218,;PTK2B,missense_variant,p.Tyr186Cys,ENST00000397497,;PTK2B,missense_variant,p.Tyr440Cys,ENST00000544172,;PTK2B,missense_variant,p.Tyr440Cys,ENST00000397501,;PTK2B,missense_variant,p.Tyr440Cys,ENST00000346049,;PTK2B,downstream_gene_variant,,ENST00000519512,;PTK2B,upstream_gene_variant,,ENST00000495097,;PTK2B,downstream_gene_variant,,ENST00000461615,;	2127	119	81	SUCCESS
CLU	1191	.	GRCh37	8	27472188	27472188	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs145951206	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	102	0	ENST00000316403.10:c.-46C>G		p.*16*	ENST00000316403				0	T:0	.	.	.	.	C	.	protein_coding	YES	CCDS47832.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGTGCCC	NONE	byCluster	.	.	.	T:0.0001	ENSP00000315130	.	1/9	.	.	.	.	.	.	.	.	rs145951206	1/9	PASS	ENST00000316403	Transcript	.	.	ENSG00000120885	2095	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLUS_HUMAN	CLU	HGNC	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN	.	UPI0000127BA6	SNV	CLU,missense_variant,p.His37Gln,ENST00000560366,;CLU,5_prime_UTR_variant,,ENST00000316403,;CLU,5_prime_UTR_variant,,ENST00000523589,;CLU,5_prime_UTR_variant,,ENST00000519472,;CLU,5_prime_UTR_variant,,ENST00000522413,;CLU,5_prime_UTR_variant,,ENST00000523396,;CLU,upstream_gene_variant,,ENST00000560566,;CLU,upstream_gene_variant,,ENST00000523500,;CLU,upstream_gene_variant,,ENST00000520796,;CLU,upstream_gene_variant,,ENST00000546343,;CLU,upstream_gene_variant,,ENST00000520491,;CLU,upstream_gene_variant,,ENST00000519742,;CLU,upstream_gene_variant,,ENST00000405140,;CLU,upstream_gene_variant,,ENST00000522238,;CLU,non_coding_transcript_exon_variant,,ENST00000518050,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;	361	102	86	SUCCESS
NRG1	3084	.	GRCh37	8	31498128	31498128	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778215426	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	27	68	0	ENST00000520407.1:c.628G>A	p.Glu210Lys	p.E210K	ENST00000520407	NM_013962.2	210	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	.	.	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGAGCCC	NONE	.	.	hmmpanther:PTHR11100:SF7,hmmpanther:PTHR11100	.	.	ENSP00000429067	.	1/13	.	.	.	.	.	.	.	.	rs778215426	1/13	PASS	ENST00000523534	Transcript	.	.	ENSG00000157168	7997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	deleterious(0.01)	.	.	NRG1	HGNC	H0YBA3_HUMAN	.	UPI0001E8F0FD	SNV	NRG1,missense_variant,p.Glu63Lys,ENST00000523534,;NRG1,missense_variant,p.Glu210Lys,ENST00000520407,;NRG1,intron_variant,,ENST00000518104,;NRG1,intron_variant,,ENST00000519301,;	187	68	53	SUCCESS
ADAM32	203102	.	GRCh37	8	39018462	39018462	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1234089706	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	57	0	ENST00000379907.4:c.572A>G	p.His191Arg	p.H191R	ENST00000379907	NM_145004.5	191	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS47846.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCATATTG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000369238	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000379907	Transcript	.	.	ENSG00000197140	15479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	ADA32_HUMAN	ADAM32	HGNC	E5RJY7_HUMAN	.	UPI000013F62F	SNV	ADAM32,missense_variant,p.His191Arg,ENST00000379907,;ADAM32,missense_variant,p.His150Arg,ENST00000399831,;ADAM32,missense_variant,p.His191Arg,ENST00000519315,;ADAM32,missense_variant,p.His198Arg,ENST00000437682,;ADAM32,intron_variant,,ENST00000522506,;ADAM32,non_coding_transcript_exon_variant,,ENST00000518259,;RPL3P10,upstream_gene_variant,,ENST00000476002,;	699	57	76	SUCCESS
AGPAT6	0	.	GRCh37	8	41469773	41469773	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	100	0	ENST00000396987.3:c.776G>A	p.Ser259Asn	p.S259N	ENST00000396987	NM_178819.3	259	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS6117.1	776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGCGATG	NONE	.	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF5,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000380184	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000396987	Transcript	.	.	ENSG00000158669	20880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.654)	.	tolerated(0.84)	.	GPAT4_HUMAN	AGPAT6	HGNC	Q8NDD3_HUMAN,Q2TU73_HUMAN,E5RIA1_HUMAN,E5RHA6_HUMAN,E5RGW3_HUMAN	.	UPI0000047FDD	SNV	AGPAT6,missense_variant,p.Ser259Asn,ENST00000396987,;AGPAT6,downstream_gene_variant,,ENST00000519853,;RP11-360L9.8,intron_variant,,ENST00000581909,;AGPAT6,non_coding_transcript_exon_variant,,ENST00000519921,;AGPAT6,non_coding_transcript_exon_variant,,ENST00000523906,;AGPAT6,downstream_gene_variant,,ENST00000521806,;	1703	100	81	SUCCESS
C8orf22	0	.	GRCh37	8	49986888	49986888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	60	0	ENST00000303202.8:c.229A>G	p.Thr77Ala	p.T77A	ENST00000303202	NM_001256598.1	77	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS59101.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTACTGGG	NONE	.	.	hmmpanther:PTHR14572,hmmpanther:PTHR14572:SF1	.	.	ENSP00000304926	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000303202	Transcript	.	.	ENSG00000168333	31745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.02)	.	PDPFL_HUMAN	C8orf22	HGNC	.	.	UPI0000070316	SNV	C8orf22,missense_variant,p.Thr77Ala,ENST00000303202,;C8orf22,missense_variant,p.Thr77Ala,ENST00000399653,;C8orf22,missense_variant,p.Thr77Ala,ENST00000517663,;C8orf22,missense_variant,p.Thr77Ala,ENST00000522267,;	402	60	60	SUCCESS
CSPP1	79848	.	GRCh37	8	68107738	68107738	+	synonymous_variant	Silent	SNP	C	C	T	rs771696486	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	85	156	0	ENST00000262210.5:c.3576C>T	p.Phe1192=	p.F1192=	ENST00000262210	NM_024790.6	1192	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS43744.1	3576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTCATGGC	NONE	.	.	hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616	.	.	ENSP00000262210	.	29/29	.	.	.	.	.	.	.	.	rs771696486	29/29	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	CSPP1,synonymous_variant,p.%3D,ENST00000262210,;CSPP1,synonymous_variant,p.%3D,ENST00000412460,;CSPP1,synonymous_variant,p.%3D,ENST00000519668,;ARFGEF1,intron_variant,,ENST00000520381,;ARFGEF1,downstream_gene_variant,,ENST00000518230,;ARFGEF1,downstream_gene_variant,,ENST00000518789,;ARFGEF1,downstream_gene_variant,,ENST00000262215,;CSPP1,non_coding_transcript_exon_variant,,ENST00000521168,;ARFGEF1,intron_variant,,ENST00000522878,;ARFGEF1,downstream_gene_variant,,ENST00000517955,;CSPP1,downstream_gene_variant,,ENST00000521324,;ARFGEF1,downstream_gene_variant,,ENST00000518290,;	3607	156	165	SUCCESS
NCOA2	10499	.	GRCh37	8	71036125	71036125	+	synonymous_variant	Silent	SNP	G	G	A	rs781256206	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	32	96	0	ENST00000452400.2:c.4287C>T	p.Pro1429=	p.P1429=	ENST00000452400	NM_006540.2	1429	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47872.1	4287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGGGACC	NONE	byFrequency	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000399968	.	21/23	.	.	.	.	.	.	.	.	rs781256206	21/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,synonymous_variant,p.%3D,ENST00000267974,;NCOA2,synonymous_variant,p.%3D,ENST00000452400,;NCOA2,synonymous_variant,p.%3D,ENST00000518363,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,downstream_gene_variant,,ENST00000521239,;	4469	96	116	SUCCESS
EYA1	2138	.	GRCh37	8	72229893	72229893	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	51	0	ENST00000340726.3:c.450T>A	p.Gly150=	p.G150=	ENST00000340726	NM_000503.4	150	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34906.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCACCTTC	NONE	.	.	hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	7/18	.	.	.	.	.	.	.	.	COSM3834991,COSM3834992	7/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,synonymous_variant,p.%3D,ENST00000388741,;EYA1,synonymous_variant,p.%3D,ENST00000419131,;EYA1,synonymous_variant,p.%3D,ENST00000388742,;EYA1,synonymous_variant,p.%3D,ENST00000340726,;EYA1,synonymous_variant,p.%3D,ENST00000388740,;EYA1,synonymous_variant,p.%3D,ENST00000388743,;EYA1,synonymous_variant,p.%3D,ENST00000303824,;EYA1,missense_variant,p.Val123Glu,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,downstream_gene_variant,,ENST00000422295,;	1090	51	58	SUCCESS
IMPA1	3612	.	GRCh37	8	82572837	82572837	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	362	49	264	0	ENST00000256108.5:c.632A>G	p.Tyr211Cys	p.Y211C	ENST00000256108	NM_005536.3	211	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47883.1	809	RADIA|MUTECT|MUSE|VARSCANS	.	CATAATATGCA	NONE	.	.	hmmpanther:PTHR20854:SF26,hmmpanther:PTHR20854,Pfam_domain:PF00459,Gene3D:3.40.190.80,Superfamily_domains:SSF56655	.	.	ENSP00000408526	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000449740	Transcript	.	.	ENSG00000133731	6050	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0.03)	.	IMPA1_HUMAN	IMPA1	HGNC	E5RGY4_HUMAN,E5RG94_HUMAN	.	UPI000192950E	SNV	IMPA1,missense_variant,p.Tyr236Cys,ENST00000523942,;IMPA1,missense_variant,p.Ile175Val,ENST00000311489,;IMPA1,missense_variant,p.Tyr270Cys,ENST00000449740,;IMPA1,missense_variant,p.Tyr211Cys,ENST00000256108,;IMPA1,non_coding_transcript_exon_variant,,ENST00000523710,;IMPA1,3_prime_UTR_variant,,ENST00000518188,;	889	264	412	SUCCESS
CA1	759	.	GRCh37	8	86250479	86250479	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	12	56	0	ENST00000431316.1:c.235+2T>A		p.X79_splice	ENST00000431316		79		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6237.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCACCTGA	NONE	.	.	.	.	.	ENSP00000430656	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000523953	Transcript	.	.	ENSG00000133742	1368	.	.	HIGH	4/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAH1_HUMAN	CA1	HGNC	E5RIF9_HUMAN,E5RHS7_HUMAN,E5RHP7_HUMAN,E5RH81_HUMAN,E5RGU8_HUMAN,E5RG43_HUMAN,E5RFL2_HUMAN	.	UPI000013CEEF	SNV	CA1,splice_donor_variant,,ENST00000522579,;CA1,splice_donor_variant,,ENST00000523953,;CA1,splice_donor_variant,,ENST00000432364,;CA1,splice_donor_variant,,ENST00000522662,;CA1,splice_donor_variant,,ENST00000517618,;CA1,splice_donor_variant,,ENST00000256119,;CA1,splice_donor_variant,,ENST00000523858,;CA1,splice_donor_variant,,ENST00000522814,;CA1,splice_donor_variant,,ENST00000523022,;CA1,splice_donor_variant,,ENST00000431316,;CA1,splice_donor_variant,,ENST00000517590,;CA1,splice_donor_variant,,ENST00000542576,;CA1,splice_donor_variant,,ENST00000521679,;CA1,splice_donor_variant,,ENST00000521846,;CA1,intron_variant,,ENST00000520663,;CA1,intron_variant,,ENST00000524324,;CA1,intron_variant,,ENST00000519991,;CA1,intron_variant,,ENST00000522389,;CA1,downstream_gene_variant,,ENST00000519129,;CA1,splice_donor_variant,,ENST00000518341,;CA1,splice_donor_variant,,ENST00000517429,;CA1,splice_donor_variant,,ENST00000520990,;CA1,non_coding_transcript_exon_variant,,ENST00000520093,;CA1,intron_variant,,ENST00000518233,;CA1,downstream_gene_variant,,ENST00000520692,;CA1,upstream_gene_variant,,ENST00000523712,;	.	56	87	SUCCESS
NIPSNAP3B	55335	.	GRCh37	9	107533137	107533137	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	72	0	ENST00000374762.3:c.438T>A	p.Tyr146Ter	p.Y146*	ENST00000374762	NM_018376.2	146	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS6761.1	438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTATGAACT	NONE	.	.	hmmpanther:PTHR21017,hmmpanther:PTHR21017:SF18,Gene3D:3.30.70.900,Pfam_domain:PF07978,Superfamily_domains:SSF54909	.	.	ENSP00000363894	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000374762	Transcript	.	.	ENSG00000165028	23641	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPS3B_HUMAN	NIPSNAP3B	HGNC	.	.	UPI0000130553	SNV	NIPSNAP3B,stop_gained,p.Tyr146Ter,ENST00000374762,;NIPSNAP3B,non_coding_transcript_exon_variant,,ENST00000461177,;NIPSNAP3B,intron_variant,,ENST00000460936,;	509	72	84	SUCCESS
PPP6C	5537	.	GRCh37	9	127920663	127920663	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	7	56	0	ENST00000373547.4:c.238-2A>T		p.X80_splice	ENST00000373547	NM_002721.4	80		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48018.1	.	MUTECT|MUSE	.	CACCCTGTGAA	NONE	.	.	.	.	.	ENSP00000392147	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451402	Transcript	.	.	ENSG00000119414	9323	.	.	HIGH	4/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPP6_HUMAN	PPP6C	HGNC	B7Z3E2_HUMAN	.	UPI000172E24D	SNV	PPP6C,splice_acceptor_variant,,ENST00000373547,;PPP6C,splice_acceptor_variant,,ENST00000415905,;PPP6C,splice_acceptor_variant,,ENST00000456642,;PPP6C,splice_acceptor_variant,,ENST00000451402,;PPP6C,intron_variant,,ENST00000373546,;	.	56	97	SUCCESS
LMX1B	4010	.	GRCh37	9	129458665	129458665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	105	0	ENST00000373474.4:c.1144C>A	p.Gln382Lys	p.Q382K	ENST00000373474		382	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS55343.1	1156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAGGCC	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96	.	.	ENSP00000347684	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000355497	Transcript	.	.	ENSG00000136944	6654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious(0.03)	.	LMX1B_HUMAN	LMX1B	HGNC	Q9UE66_HUMAN,B7ZLH2_HUMAN	.	UPI0001CE94D0	SNV	LMX1B,missense_variant,p.Gln352Lys,ENST00000425646,;LMX1B,missense_variant,p.Gln382Lys,ENST00000373474,;LMX1B,missense_variant,p.Gln375Lys,ENST00000526117,;LMX1B,missense_variant,p.Gln363Lys,ENST00000561065,;LMX1B,missense_variant,p.Gln386Lys,ENST00000355497,;RP11-489N22.3,upstream_gene_variant,,ENST00000602859,;	1163	105	99	SUCCESS
KCNT1	57582	.	GRCh37	9	138642869	138642869	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751504173	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	36	0	ENST00000488444.2:c.359C>A	p.Pro120Gln	p.P120Q	ENST00000488444		120	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS35175.2	416	RADIA|MUTECT|MUSE	.	TGACCCGGCCC	NONE	.	.	Gene3D:1.10.287.70,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	4/31	.	.	.	.	.	.	.	.	rs751504173	4/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.43)	.	deleterious(0.05)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Pro86Gln,ENST00000473941,;KCNT1,missense_variant,p.Pro100Gln,ENST00000486577,;KCNT1,missense_variant,p.Pro120Gln,ENST00000490355,;KCNT1,missense_variant,p.Pro120Gln,ENST00000263604,;KCNT1,missense_variant,p.Pro106Gln,ENST00000491806,;KCNT1,missense_variant,p.Pro139Gln,ENST00000298480,;KCNT1,missense_variant,p.Pro91Gln,ENST00000487664,;KCNT1,missense_variant,p.Pro139Gln,ENST00000371757,;KCNT1,missense_variant,p.Pro120Gln,ENST00000488444,;KCNT1,intron_variant,,ENST00000460750,;KCNT1,upstream_gene_variant,,ENST00000490363,;	483	36	26	SUCCESS
C9orf172	0	.	GRCh37	9	139740383	139740383	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	33	0	ENST00000436881.1:c.1517T>C	p.Leu506Pro	p.L506P	ENST00000436881	NM_001080482.2	506	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS48059.1	1517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACTGTCCC	NONE	.	.	hmmpanther:PTHR21517:SF2,hmmpanther:PTHR21517	.	.	ENSP00000412388	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000436881	Transcript	.	.	ENSG00000232434	37284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CI172_HUMAN	C9orf172	HGNC	.	.	UPI00015386B2	SNV	C9orf172,missense_variant,p.Leu506Pro,ENST00000436881,;RABL6,downstream_gene_variant,,ENST00000371663,;PHPT1,upstream_gene_variant,,ENST00000545326,;PHPT1,upstream_gene_variant,,ENST00000247665,;RABL6,downstream_gene_variant,,ENST00000371675,;PHPT1,upstream_gene_variant,,ENST00000371661,;RABL6,downstream_gene_variant,,ENST00000357466,;RABL6,downstream_gene_variant,,ENST00000311502,;PHPT1,upstream_gene_variant,,ENST00000497413,;PHPT1,upstream_gene_variant,,ENST00000463215,;PHPT1,upstream_gene_variant,,ENST00000462205,;PHPT1,upstream_gene_variant,,ENST00000492540,;RABL6,downstream_gene_variant,,ENST00000484471,;RABL6,downstream_gene_variant,,ENST00000464941,;	1517	33	45	SUCCESS
CHMP5	51510	.	GRCh37	9	33271184	33271184	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1308332442	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	51	0	ENST00000223500.8:c.350A>G	p.Lys117Arg	p.K117R	ENST00000223500	NM_016410.5	117	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6537.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAGAAGG	NONE	.	.	hmmpanther:PTHR22761:SF12,hmmpanther:PTHR22761,Pfam_domain:PF03357	.	.	ENSP00000223500	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000223500	Transcript	.	.	ENSG00000086065	26942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	tolerated(0.18)	.	CHMP5_HUMAN	CHMP5	HGNC	.	.	UPI000003602D	SNV	CHMP5,missense_variant,p.Lys117Arg,ENST00000223500,;CHMP5,missense_variant,p.Lys117Arg,ENST00000419016,;	487	51	46	SUCCESS
FBXO10	26267	.	GRCh37	9	37541574	37541574	+	synonymous_variant	Silent	SNP	T	T	C	rs1470673830	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	33	119	0	ENST00000432825.2:c.192A>G	p.Pro64=	p.P64=	ENST00000432825	NM_012166.2	64	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47966.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTGGCTG	NONE	.	.	hmmpanther:PTHR22990,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	.	.	ENSP00000403802	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000432825	Transcript	.	.	ENSG00000147912	13589	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX10_HUMAN	FBXO10	HGNC	Q08AL4_HUMAN,F5GXN9_HUMAN	.	UPI00001C1EC6	SNV	FBXO10,synonymous_variant,p.%3D,ENST00000432825,;FBXO10,synonymous_variant,p.%3D,ENST00000541607,;FBXO10,intron_variant,,ENST00000541829,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,synonymous_variant,p.%3D,ENST00000276960,;RP11-613M10.8,3_prime_UTR_variant,,ENST00000537239,;	241	119	117	SUCCESS
TMC1	117531	.	GRCh37	9	75431065	75431065	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	91	0	ENST00000297784.5:c.1702T>G	p.Tyr568Asp	p.Y568D	ENST00000297784	NM_138691.2	568	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS6643.1	1702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATACACC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18,Pfam_domain:PF07810	.	.	ENSP00000297784	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000297784	Transcript	.	.	ENSG00000165091	16513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TMC1_HUMAN	TMC1	HGNC	.	.	UPI0000161FA9	SNV	TMC1,missense_variant,p.Tyr568Asp,ENST00000297784,;TMC1,missense_variant,p.Tyr568Asp,ENST00000340019,;TMC1,missense_variant,p.Tyr568Asp,ENST00000396237,;TMC1,non_coding_transcript_exon_variant,,ENST00000469455,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;	2242	91	88	SUCCESS
OGN	4969	.	GRCh37	9	95148565	95148565	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	46	0	ENST00000262551.4:c.644T>A	p.Leu215His	p.L215H	ENST00000262551	NM_033014.2	215	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS6695.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGAGGTTA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF5,hmmpanther:PTHR24371,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000262551	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000262551	Transcript	.	.	ENSG00000106809	8126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MIME_HUMAN	OGN	HGNC	A8K0R3_HUMAN	.	UPI00000540ED	SNV	OGN,missense_variant,p.Leu215His,ENST00000375561,;OGN,missense_variant,p.Leu215His,ENST00000262551,;CENPP,intron_variant,,ENST00000375587,;OGN,downstream_gene_variant,,ENST00000447356,;OGN,downstream_gene_variant,,ENST00000468743,;	1065	46	60	SUCCESS
ARMCX6	54470	.	GRCh37	X	100871178	100871178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	47	115	0	ENST00000361910.4:c.433G>T	p.Ala145Ser	p.A145S	ENST00000361910	NM_019007.3	145	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14488.1	433	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCATCCT	NONE	.	.	hmmpanther:PTHR15712:SF6,hmmpanther:PTHR15712,Pfam_domain:PF04826	.	.	ENSP00000444537	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000539247	Transcript	.	.	ENSG00000198960	26094	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.321)	.	deleterious(0.02)	.	ARMX6_HUMAN	ARMCX6	HGNC	.	.	UPI00001BBFA2	SNV	ARMCX6,missense_variant,p.Ala145Ser,ENST00000538627,;ARMCX6,missense_variant,p.Ala145Ser,ENST00000361910,;ARMCX6,missense_variant,p.Ala145Ser,ENST00000539247,;ARMCX6,intron_variant,,ENST00000497931,;ARMCX6,intron_variant,,ENST00000462302,;ARMCX6,downstream_gene_variant,,ENST00000494624,;ARMCX6,downstream_gene_variant,,ENST00000467089,;ARMCX6,downstream_gene_variant,,ENST00000495964,;	866	115	59	SUCCESS
IL13RA2	3598	.	GRCh37	X	114244204	114244204	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	135	0	ENST00000243213.1:c.732T>C	p.Leu244=	p.L244=	ENST00000243213	NM_000640.2	244	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS14565.1	732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTAAGATA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF89,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265	.	.	ENSP00000361004	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000371936	Transcript	.	.	ENSG00000123496	5975	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I13R2_HUMAN	IL13RA2	HGNC	.	.	UPI000002E794	SNV	IL13RA2,synonymous_variant,p.%3D,ENST00000243213,;IL13RA2,synonymous_variant,p.%3D,ENST00000371936,;IL13RA2,downstream_gene_variant,,ENST00000468224,;	982	135	70	SUCCESS
SAGE1	55511	.	GRCh37	X	134986663	134986663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	160	0	ENST00000324447.3:c.248A>T	p.Glu83Val	p.E83V	ENST00000324447		83	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS14652.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGAAGAGA	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Glu83Val,ENST00000370709,;SAGE1,missense_variant,p.Glu83Val,ENST00000535938,;SAGE1,missense_variant,p.Glu83Val,ENST00000537770,;SAGE1,missense_variant,p.Glu83Val,ENST00000324447,;	415	160	118	SUCCESS
MAGEC1	9947	.	GRCh37	X	140996543	140996543	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1279422292	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	18	48	0	ENST00000285879.4:c.3353T>C	p.Ile1118Thr	p.I1118T	ENST00000285879	NM_005462.4	1118	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS35417.1	3353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAATTGACA	NONE	.	.	hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736	.	.	ENSP00000285879	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000285879	Transcript	.	.	ENSG00000155495	6812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	MAGC1_HUMAN	MAGEC1	HGNC	A0PK03_HUMAN	.	UPI000006F2FD	SNV	MAGEC1,missense_variant,p.Ile185Thr,ENST00000406005,;MAGEC1,missense_variant,p.Ile1118Thr,ENST00000285879,;	3639	48	21	SUCCESS
MXRA5	25878	.	GRCh37	X	3240280	3240280	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	58	100	0	ENST00000217939.6:c.3446G>T	p.Arg1149Met	p.R1149M	ENST00000217939	NM_015419.3	1149	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS14124.1	3446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCTTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Arg1149Met,ENST00000217939,;	3601	100	72	SUCCESS
DMD	1756	.	GRCh37	X	32481605	32481605	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	53	0	ENST00000357033.4:c.3383A>T	p.Glu1128Val	p.E1128V	ENST00000357033	NM_004007.2	1128	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS14233.1	3383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCTCAAGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	25/79	.	.	.	.	.	.	.	.	.	25/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.805)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Glu1128Val,ENST00000357033,;DMD,missense_variant,p.Glu1124Val,ENST00000378677,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	3590	53	43	SUCCESS
CXorf30	0	.	GRCh37	X	36403105	36403105	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	129	230	0	ENST00000378657.4:c.1886T>C	p.Leu629Ser	p.L629S	ENST00000378657	NM_001098843.4	629	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS55396.1	1886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTGGTGA	NONE	.	.	hmmpanther:PTHR23053:SF7,hmmpanther:PTHR23053	.	.	ENSP00000367926	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000378657	Transcript	.	.	ENSG00000205081	27298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,missense_variant,p.Leu629Ser,ENST00000378657,;CXorf30,missense_variant,p.Leu914Ser,ENST00000378653,;RP11-87M18.2,intron_variant,,ENST00000455438,;	2534	230	154	SUCCESS
RBM3	5935	.	GRCh37	X	48433627	48433627	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	52	0	ENST00000376755.1:c.59A>T	p.Gln20Leu	p.Q20L	ENST00000376755		20	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS14301.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCAGGCAC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF269,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000365950	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000376759	Transcript	.	.	ENSG00000102317	9900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	RBM3_HUMAN	RBM3	HGNC	.	.	UPI000013337B	SNV	RBM3,missense_variant,p.Gln20Leu,ENST00000376759,;RBM3,missense_variant,p.Gln20Leu,ENST00000376755,;RBM3,5_prime_UTR_variant,,ENST00000430348,;AC115618.1,upstream_gene_variant,,ENST00000376775,;RBM3,upstream_gene_variant,,ENST00000354480,;RP11-1148L6.5,downstream_gene_variant,,ENST00000453810,;RBM3,non_coding_transcript_exon_variant,,ENST00000490127,;RBM3,non_coding_transcript_exon_variant,,ENST00000472897,;RBM3,non_coding_transcript_exon_variant,,ENST00000491236,;RBM3,non_coding_transcript_exon_variant,,ENST00000485213,;RBM3,non_coding_transcript_exon_variant,,ENST00000466764,;RBM3,non_coding_transcript_exon_variant,,ENST00000488216,;RBM3,non_coding_transcript_exon_variant,,ENST00000489344,;RBM3,non_coding_transcript_exon_variant,,ENST00000491240,;	122	52	26	SUCCESS
AKAP4	8852	.	GRCh37	X	49958228	49958228	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1557203994	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	42	1	ENST00000358526.2:c.1136T>C	p.Val379Ala	p.V379A	ENST00000358526	NM_003886.2	379	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS14329.1	1136	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACACAATC	BUFFER|p.S380S|c.1140C>T|4	.	.	hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000351327	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000358526	Transcript	.	.	ENSG00000147081	374	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.669)	.	deleterious(0)	.	AKAP4_HUMAN	AKAP4	HGNC	.	.	UPI000013DA96	SNV	AKAP4,missense_variant,p.Val379Ala,ENST00000358526,;AKAP4,missense_variant,p.Val370Ala,ENST00000376056,;AKAP4,missense_variant,p.Val370Ala,ENST00000376064,;AKAP4,intron_variant,,ENST00000448865,;AKAP4,intron_variant,,ENST00000376058,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	1260	43	24	SUCCESS
ITIH6	347365	.	GRCh37	X	54783989	54783989	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	44	75	0	ENST00000218436.6:c.2518C>G	p.Leu840Val	p.L840V	ENST00000218436	NM_198510.2	840	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14361.1	2518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGTGTG	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	.	ENSP00000218436	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.04)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Leu840Val,ENST00000218436,;	2548	75	52	SUCCESS
NAP1L2	4674	.	GRCh37	X	72434625	72434625	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	19	33	0	ENST00000373517.3:c.-297G>T		p.*99*	ENST00000373517	NM_021963.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14423.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCGCAA	NONE	.	.	.	.	.	ENSP00000362616	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373517	Transcript	.	.	ENSG00000186462	7638	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NP1L2_HUMAN	NAP1L2	HGNC	B4E161_HUMAN	.	UPI00001303E8	SNV	NAP1L2,5_prime_UTR_variant,,ENST00000536638,;NAP1L2,5_prime_UTR_variant,,ENST00000373517,;	60	33	21	SUCCESS
RLIM	51132	.	GRCh37	X	73812676	73812676	+	synonymous_variant	Silent	SNP	T	T	C	rs1455410643	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	38	91	0	ENST00000332687.6:c.474A>G	p.Pro158=	p.P158=	ENST00000332687	NM_016120.3	158	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS14427.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATGGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	.	.	ENSP00000328059	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332687	Transcript	.	.	ENSG00000131263	13429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF12_HUMAN	RLIM	HGNC	.	.	UPI000006FD6A	SNV	RLIM,synonymous_variant,p.%3D,ENST00000349225,;RLIM,synonymous_variant,p.%3D,ENST00000332687,;	693	91	42	SUCCESS
CYLC1	1538	.	GRCh37	X	83128470	83128470	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs146830604	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	91	208	0	ENST00000329312.4:c.754G>T	p.Gly252Ter	p.G252*	ENST00000329312	NM_021118.2	252	Gga/Tga	0	A:0.0003	A:0	.	A:0.0014	.	T	G/*	protein_coding	YES	CCDS35341.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGGGACAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	A:0	A:0.0009	ENSP00000331556	A:0.001	4/5	.	.	.	.	.	.	.	.	rs146830604	4/5	PASS	ENST00000329312	Transcript	.	A:0.0016	ENSG00000183035	2582	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0041	.	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,stop_gained,p.Gly252Ter,ENST00000329312,;	791	208	102	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83352788	83352788	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	117	255	1	ENST00000262752.2:c.1845G>A	p.Met615Ile	p.M615I	ENST00000262752	NM_014496.4	615	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS14451.1	1845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACATTGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000262752	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.02)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.Met615Ile,ENST00000262752,;RPS6KA6,missense_variant,p.Met615Ile,ENST00000543399,;RPS6KA6,non_coding_transcript_exon_variant,,ENST00000495332,;	1853	257	139	SUCCESS
KAL1	0	.	GRCh37	X	8503725	8503725	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	154	0	ENST00000262648.3:c.1749T>A	p.Thr583=	p.T583=	ENST00000262648	NM_000216.2	583	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS14130.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCAGTCAT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR14131:SF3,hmmpanther:PTHR14131,PROSITE_profiles:PS50853	.	.	ENSP00000262648	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000262648	Transcript	.	.	ENSG00000011201	6211	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KALM_HUMAN	KAL1	HGNC	.	.	UPI00001AE843	SNV	KAL1,synonymous_variant,p.%3D,ENST00000262648,;KAL1,non_coding_transcript_exon_variant,,ENST00000481896,;	1899	154	85	SUCCESS
KCNIP2	30819	.	GRCh37	10	103589645	103589645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	30	0	ENST00000356640.2:c.179C>A	p.Ala60Asp	p.A60D	ENST00000356640	NM_014591.4	60	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS7521.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF65	.	.	ENSP00000420040	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000461105	Transcript	.	.	ENSG00000120049	15522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated_low_confidence(0.38)	.	KCIP2_HUMAN	KCNIP2	HGNC	.	.	UPI000006FE6F	SNV	KCNIP2,missense_variant,p.Ala60Asp,ENST00000356640,;KCNIP2,missense_variant,p.Ala75Asp,ENST00000461105,;KCNIP2,intron_variant,,ENST00000348850,;KCNIP2,intron_variant,,ENST00000353068,;KCNIP2,intron_variant,,ENST00000370046,;KCNIP2,intron_variant,,ENST00000434163,;KCNIP2,intron_variant,,ENST00000358038,;KCNIP2,intron_variant,,ENST00000239117,;KCNIP2,intron_variant,,ENST00000343195,;KCNIP2-AS1,downstream_gene_variant,,ENST00000412353,;KCNIP2,non_coding_transcript_exon_variant,,ENST00000355657,;KCNIP2,intron_variant,,ENST00000472764,;KCNIP2,upstream_gene_variant,,ENST00000483385,;KCNIP2,upstream_gene_variant,,ENST00000460388,;	224	30	23	SUCCESS
PCGF6	84108	.	GRCh37	10	105104793	105104793	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	42	154	0	ENST00000369847.3:c.770T>C	p.Leu257Pro	p.L257P	ENST00000369847	NM_001011663.1	257	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31275.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCAGTAAT	NONE	.	.	hmmpanther:PTHR10825:SF24,hmmpanther:PTHR10825	.	.	ENSP00000358862	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000369847	Transcript	.	.	ENSG00000156374	21156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0.01)	.	PCGF6_HUMAN	PCGF6	HGNC	.	.	UPI00001F9669	SNV	PCGF6,missense_variant,p.Leu257Pro,ENST00000369847,;PCGF6,intron_variant,,ENST00000337211,;PCGF6,non_coding_transcript_exon_variant,,ENST00000490296,;PCGF6,downstream_gene_variant,,ENST00000492755,;	838	154	136	SUCCESS
DMBT1	1755	.	GRCh37	10	124335940	124335940	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	29	0	ENST00000338354.3:c.309G>T	p.Arg103Ser	p.R103S	ENST00000338354		103	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS44490.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGCTGGT	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	7/53	.	.	.	.	.	.	.	.	.	7/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Arg103Ser,ENST00000368956,;DMBT1,missense_variant,p.Arg103Ser,ENST00000359586,;DMBT1,missense_variant,p.Arg103Ser,ENST00000330163,;DMBT1,missense_variant,p.Arg103Ser,ENST00000344338,;DMBT1,missense_variant,p.Arg103Ser,ENST00000368955,;DMBT1,missense_variant,p.Arg103Ser,ENST00000368909,;DMBT1,missense_variant,p.Arg103Ser,ENST00000338354,;	415	29	33	SUCCESS
CTBP2	1488	.	GRCh37	10	126714944	126714944	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	33	62	0	ENST00000337195.5:c.58+12622C>T		p.*20*	ENST00000337195	NM_001329.2	462		0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7644.1	1385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGCCACC	NONE	.	.	.	.	.	ENSP00000311825	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000309035	Transcript	.	.	ENSG00000175029	2495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious_low_confidence(0.04)	.	CTBP2_HUMAN	CTBP2	HGNC	.	.	UPI000013EE11	SNV	CTBP2,missense_variant,p.Ala462Val,ENST00000309035,;CTBP2,intron_variant,,ENST00000494626,;CTBP2,intron_variant,,ENST00000531469,;CTBP2,intron_variant,,ENST00000411419,;CTBP2,intron_variant,,ENST00000337195,;CTBP2,intron_variant,,ENST00000460976,;CTBP2,intron_variant,,ENST00000493552,;	1516	62	53	SUCCESS
NPFFR1	64106	.	GRCh37	10	72015502	72015502	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	91	0	ENST00000277942.6:c.504G>T	p.Leu168=	p.L168=	ENST00000277942	NM_022146.4	168	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS53539.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCCAGGGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF4,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000277942	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000277942	Transcript	.	.	ENSG00000148734	17425	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPFF1_HUMAN	NPFFR1	HGNC	Q5T6D8_HUMAN	.	UPI000005048B	SNV	NPFFR1,synonymous_variant,p.%3D,ENST00000277942,;	504	91	86	SUCCESS
PRF1	5551	.	GRCh37	10	72360312	72360312	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	81	0	ENST00000373209.2:c.347C>A	p.Ala116Asp	p.A116D	ENST00000373209		116	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS7305.1	347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGCTTCA	NONE	.	.	PROSITE_profiles:PS51412	.	.	ENSP00000398568	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000441259	Transcript	1	.	ENSG00000180644	9360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.33)	.	PERF_HUMAN	PRF1	HGNC	S5S2F2_HUMAN,S5RDP5_HUMAN	.	UPI000013162B	SNV	PRF1,missense_variant,p.Ala116Asp,ENST00000373209,;PRF1,missense_variant,p.Ala116Asp,ENST00000441259,;	508	81	60	SUCCESS
GUCY1A2	2977	.	GRCh37	11	106810594	106810594	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	45	79	0	ENST00000526355.2:c.798G>T	p.Val266=	p.V266=	ENST00000526355	NM_000855.2	266	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS58170.1	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCACATC	NONE	.	.	hmmpanther:PTHR11920:SF276,hmmpanther:PTHR11920,Gene3D:3sj5A00,Pfam_domain:PF07700,Superfamily_domains:SSF111126	.	.	ENSP00000282249	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000282249	Transcript	.	.	ENSG00000152402	4684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCYA2_HUMAN	GUCY1A2	HGNC	.	.	UPI000002A79C	SNV	GUCY1A2,synonymous_variant,p.%3D,ENST00000282249,;GUCY1A2,synonymous_variant,p.%3D,ENST00000526355,;GUCY1A2,synonymous_variant,p.%3D,ENST00000347596,;	1188	79	65	SUCCESS
MICAL2	9645	.	GRCh37	11	12183718	12183718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	56	84	0	ENST00000256194.4:c.16G>T	p.Asp6Tyr	p.D6Y	ENST00000256194	NM_014632.2	6	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS7809.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGGATGAG	NONE	.	.	hmmpanther:PTHR11915:SF239,hmmpanther:PTHR11915	.	.	ENSP00000256194	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000256194	Transcript	.	.	ENSG00000133816	24693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	deleterious(0)	.	MICA2_HUMAN	MICAL2	HGNC	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN	.	UPI000000DA92	SNV	MICAL2,missense_variant,p.Asp6Tyr,ENST00000379612,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000532420,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000256194,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000527546,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000342902,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000533389,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000537344,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000526065,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000524685,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000525119,;MICAL2,missense_variant,p.Asp6Tyr,ENST00000532179,;MICAL2,downstream_gene_variant,,ENST00000530823,;MICAL2,non_coding_transcript_exon_variant,,ENST00000531732,;MICAL2,non_coding_transcript_exon_variant,,ENST00000528931,;	304	84	79	SUCCESS
ZNF202	7753	.	GRCh37	11	123600474	123600474	+	synonymous_variant	Silent	SNP	C	C	A	rs143645376	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	61	0	ENST00000336139.4:c.462G>T	p.Val154=	p.V154=	ENST00000336139		154	gtG/gtT	0	T:0.0025	T:0.0091	.	T:0	.	A	V	protein_coding	YES	CCDS8443.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCACTCC	NONE	byFrequency|byCluster|by1000G	.	SMART_domains:SM00431,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	T:0	T:0	ENSP00000337724	T:0	4/8	.	.	.	.	.	.	.	.	rs143645376	4/8	PASS	ENST00000336139	Transcript	.	T:0.0024	ENSG00000166261	12994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,synonymous_variant,p.%3D,ENST00000529691,;ZNF202,synonymous_variant,p.%3D,ENST00000336139,;ZNF202,synonymous_variant,p.%3D,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	825	61	47	SUCCESS
SHANK2	22941	.	GRCh37	11	70666634	70666634	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782229916	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	55	0	ENST00000423696.2:c.191G>T	p.Arg64Leu	p.R64L	ENST00000423696		64	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	.	1331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCGGTGC	NONE	.	.	hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	18/33	.	.	.	.	.	.	.	.	rs782229916,COSM1628199	18/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.133)	.	tolerated(0.05)	0,1	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Ala91Ser,ENST00000425049,;SHANK2,missense_variant,p.Arg74Leu,ENST00000294018,;SHANK2,missense_variant,p.Arg444Leu,ENST00000338508,;SHANK2,missense_variant,p.Arg64Leu,ENST00000423696,;SHANK2,non_coding_transcript_exon_variant,,ENST00000460048,;SHANK2,non_coding_transcript_exon_variant,,ENST00000468619,;	1331	55	42	SUCCESS
PDE3A	5139	.	GRCh37	12	20807109	20807109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	141	0	ENST00000359062.3:c.3154G>A	p.Glu1052Lys	p.E1052K	ENST00000359062	NM_001244683.1	1052	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31754.1	3154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAGAGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347,Superfamily_domains:SSF109604	.	.	ENSP00000351957	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	tolerated(0.07)	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.Glu1052Lys,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	3194	141	87	SUCCESS
GALNT8	26290	.	GRCh37	12	4848403	4848403	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	32	100	0	ENST00000252318.2:c.584C>G	p.Ser195Cys	p.S195C	ENST00000252318	NM_017417.1	195	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS8533.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCCATTA	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000252318	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000252318	Transcript	.	.	ENSG00000130035	4130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	GALT8_HUMAN	GALNT8	HGNC	Q68VJ3_HUMAN	.	UPI0000070DEC	SNV	GALNT8,missense_variant,p.Ser195Cys,ENST00000252318,;RP11-234B24.6,3_prime_UTR_variant,,ENST00000544741,;	921	100	66	SUCCESS
HOXC6	3223	.	GRCh37	12	54423561	54423561	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762610633	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	79	0	ENST00000243108.4:c.523G>T	p.Ala175Ser	p.A175S	ENST00000243108	NM_004503.3	175	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8871.1	523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGCCAAC	CODON|p.I174I|c.522C>T|3	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF173,hmmpanther:PTHR24326,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000243108	.	2/2	.	.	.	.	.	.	.	.	rs762610633,COSM1743516	2/2	PASS	ENST00000243108	Transcript	.	.	ENSG00000197757	5128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	tolerated(0.08)	0,1	HXC6_HUMAN	HOXC6	HGNC	D6RBH4_HUMAN	.	UPI0000020BA4	SNV	HOXC6,missense_variant,p.Ala175Ser,ENST00000243108,;HOXC6,missense_variant,p.Ala93Ser,ENST00000394331,;HOXC4,intron_variant,,ENST00000303406,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC5,upstream_gene_variant,,ENST00000312492,;HOXC6,downstream_gene_variant,,ENST00000509328,;HOXC6,downstream_gene_variant,,ENST00000504315,;MIR615,upstream_gene_variant,,ENST00000384839,;RP11-834C11.14,intron_variant,,ENST00000512206,;	687	79	47	SUCCESS
KIF5A	3798	.	GRCh37	12	57971812	57971812	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	76	1	ENST00000455537.2:c.2382C>A	p.Leu794=	p.L794=	ENST00000455537	NM_004984.2	794	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8945.1	2382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTCCACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317	.	.	ENSP00000408979	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000455537	Transcript	.	.	ENSG00000155980	6323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF5A_HUMAN	KIF5A	HGNC	.	.	UPI000013DE4C	SNV	KIF5A,synonymous_variant,p.%3D,ENST00000455537,;KIF5A,synonymous_variant,p.%3D,ENST00000286452,;KIF5A,upstream_gene_variant,,ENST00000552227,;	2656	77	53	SUCCESS
LRIG3	121227	.	GRCh37	12	59284530	59284539	+	frameshift_variant	Frame_Shift_Del	DEL	AAACTCTTTC	AAACTCTTTC	-	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	AAACTCTTTC	AAACTCTTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	79	0	ENST00000320743.3:c.423_432del	p.Lys142SerfsTer53	p.K142Sfs*53	ENST00000320743	NM_153377.4	141	ctGAAAGAGTTT/ct	0	.	.	.	.	.	-	LKEF/X	protein_coding	YES	CCDS8960.1	423-432	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTGAAACTCTTTCAGATG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242,Pfam_domain:PF12799,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000326759	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000320743	Transcript	.	.	ENSG00000139263	30991	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRIG3_HUMAN	LRIG3	HGNC	F8VYZ5_HUMAN	.	UPI0000035BB5	deletion	LRIG3,frameshift_variant,p.Lys82SerfsTer53,ENST00000379141,;LRIG3,frameshift_variant,p.Lys142SerfsTer53,ENST00000320743,;LRIG3,frameshift_variant,p.Lys49SerfsTer53,ENST00000552267,;LRIG3,frameshift_variant,p.Lys142SerfsTer53,ENST00000433272,;LRIG3,upstream_gene_variant,,ENST00000550304,;	710-719	79	44	SUCCESS
A2ML1	144568	.	GRCh37	12	8988264	8988264	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	122	0	ENST00000299698.7:c.643+2T>C		p.X215_splice	ENST00000299698	NM_144670.4	215		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8596.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGTAGGTG	NONE	.	.	.	.	.	ENSP00000299698	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	HIGH	6/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,splice_donor_variant,,ENST00000299698,;A2ML1-AS1,upstream_gene_variant,,ENST00000537288,;A2ML1,downstream_gene_variant,,ENST00000537546,;	.	122	75	SUCCESS
SMAD9	4093	.	GRCh37	13	37446983	37446983	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200651392	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	80	0	ENST00000379826.4:c.482G>T	p.Arg161Leu	p.R161L	ENST00000379826	NM_001127217.2	161	cGc/cTc	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS45032.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCGGAAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13703:SF37,hmmpanther:PTHR13703	T:0.001	.	ENSP00000369154	T:0	3/7	.	.	.	.	.	.	.	.	rs200651392,COSM432362,COSM1477219	3/7	PASS	ENST00000379826	Transcript	.	T:0.0002	ENSG00000120693	6774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.235)	T:0	tolerated(0.21)	0,1,1	SMAD9_HUMAN	SMAD9	HGNC	.	.	UPI0000135A85	SNV	SMAD9,missense_variant,p.Arg161Leu,ENST00000350148,;SMAD9,missense_variant,p.Arg161Leu,ENST00000379826,;SMAD9,missense_variant,p.Arg161Leu,ENST00000399275,;	825	80	56	SUCCESS
DACH1	1602	.	GRCh37	13	72049330	72049330	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	92	0	ENST00000305425.4:c.2032C>A	p.Pro678Thr	p.P678T	ENST00000305425	NM_080759.4	678	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41899.1	2032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGGGTCA	NONE	.	.	hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577	.	.	ENSP00000304994	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,missense_variant,p.Pro678Thr,ENST00000305425,;DACH1,missense_variant,p.Pro530Thr,ENST00000313174,;DACH1,missense_variant,p.Pro476Thr,ENST00000354591,;DACH1,missense_variant,p.Pro730Thr,ENST00000359684,;	2455	92	51	SUCCESS
C14orf93	60686	.	GRCh37	14	23456717	23456717	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1023343891	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	42	53	0	ENST00000299088.6:c.1324G>A	p.Ala442Thr	p.A442T	ENST00000299088	NM_001130708.1	442	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9583.1	1324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCCACCC	NONE	.	.	hmmpanther:PTHR14375,Pfam_domain:PF15394	.	.	ENSP00000299088	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000299088	Transcript	.	.	ENSG00000100802	20162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious_low_confidence(0.01)	.	CN093_HUMAN	C14orf93	HGNC	J3KPV9_HUMAN,G5E9D9_HUMAN,G3V4W6_HUMAN,G3V4L9_HUMAN,G3V3W0_HUMAN,G3V396_HUMAN,G3V2U2_HUMAN,G3V2P0_HUMAN	.	UPI000000CC08	SNV	C14orf93,missense_variant,p.Ala262Thr,ENST00000397377,;C14orf93,missense_variant,p.Ala442Thr,ENST00000397379,;C14orf93,missense_variant,p.Ala442Thr,ENST00000299088,;C14orf93,missense_variant,p.Ala442Thr,ENST00000397382,;C14orf93,intron_variant,,ENST00000406429,;C14orf93,intron_variant,,ENST00000341470,;AJUBA,upstream_gene_variant,,ENST00000262713,;RP11-298I3.4,intron_variant,,ENST00000555294,;RP11-298I3.4,intron_variant,,ENST00000556503,;RP11-298I3.4,intron_variant,,ENST00000557615,;	1754	53	64	SUCCESS
NFKBIA	4792	.	GRCh37	14	35871694	35871694	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	97	0	ENST00000216797.5:c.812A>T	p.Gln271Leu	p.Q271L	ENST00000216797	NM_020529.2	271	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9656.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTGGCCC	NONE	.	.	Superfamily_domains:SSF48403,hmmpanther:PTHR24139	.	.	ENSP00000216797	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000216797	Transcript	.	.	ENSG00000100906	7797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.08)	.	IKBA_HUMAN	NFKBIA	HGNC	Q9UGJ5_HUMAN,G3V286_HUMAN	.	UPI000004F0A9	SNV	NFKBIA,missense_variant,p.Gln181Leu,ENST00000557389,;NFKBIA,missense_variant,p.Gln271Leu,ENST00000216797,;NFKBIA,missense_variant,p.Gln228Leu,ENST00000557140,;NFKBIA,downstream_gene_variant,,ENST00000553342,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557100,;NFKBIA,3_prime_UTR_variant,,ENST00000554001,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000555371,;NFKBIA,downstream_gene_variant,,ENST00000557459,;NFKBIA,downstream_gene_variant,,ENST00000555629,;NFKBIA,downstream_gene_variant,,ENST00000556664,;	914	97	84	SUCCESS
MIS18BP1	55320	.	GRCh37	14	45693923	45693923	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	60	0	ENST00000310806.4:c.1867A>G	p.Ile623Val	p.I623V	ENST00000310806	NM_018353.4	623	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9684.1	1867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATGGATA	NONE	.	.	hmmpanther:PTHR16124:SF1,hmmpanther:PTHR16124	.	.	ENSP00000309790	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000310806	Transcript	.	.	ENSG00000129534	20190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.55)	.	M18BP_HUMAN	MIS18BP1	HGNC	C9J2Q8_HUMAN	.	UPI00001FD488	SNV	MIS18BP1,missense_variant,p.Ile623Val,ENST00000310806,;MIS18BP1,downstream_gene_variant,,ENST00000555653,;MIS18BP1,downstream_gene_variant,,ENST00000454990,;MIS18BP1,downstream_gene_variant,,ENST00000453142,;MIS18BP1,upstream_gene_variant,,ENST00000554093,;MIS18BP1,upstream_gene_variant,,ENST00000469020,;	2326	60	58	SUCCESS
KCNH5	27133	.	GRCh37	14	63174666	63174666	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1469502913	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	62	103	0	ENST00000322893.7:c.2527G>T	p.Asp843Tyr	p.D843Y	ENST00000322893	NM_139318.4	843	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9756.1	2527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCCTCAG	NONE	.	.	hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217	.	.	ENSP00000321427	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	deleterious_low_confidence(0.03)	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,missense_variant,p.Asp843Tyr,ENST00000322893,;KCNH5,3_prime_UTR_variant,,ENST00000420622,;KCNH5,downstream_gene_variant,,ENST00000394968,;	2796	103	107	SUCCESS
KCNH5	27133	.	GRCh37	14	63174667	63174667	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	62	105	0	ENST00000322893.7:c.2526G>C	p.Glu842Asp	p.E842D	ENST00000322893	NM_139318.4	842	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS9756.1	2526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCTCAGA	NONE	.	.	hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217	.	.	ENSP00000321427	.	11/11	.	.	.	.	.	.	.	.	COSM1743602	11/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated_low_confidence(0.43)	1	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,missense_variant,p.Glu842Asp,ENST00000322893,;KCNH5,3_prime_UTR_variant,,ENST00000420622,;KCNH5,downstream_gene_variant,,ENST00000394968,;	2795	105	108	SUCCESS
PLEKHH1	57475	.	GRCh37	14	68053656	68053656	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	38	0	ENST00000329153.5:c.3934-135T>C		p.*1312*	ENST00000329153	NM_020715.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45128.1	.	MUTECT|MUSE	.	GGATATTTTCT	NONE	.	.	.	.	.	ENSP00000330278	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000329153	Transcript	.	.	ENSG00000054690	17733	.	.	MODIFIER	28/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHH1_HUMAN	PLEKHH1	HGNC	B3KWD2_HUMAN	.	UPI00001C1F64	SNV	PLEKHH1,synonymous_variant,p.%3D,ENST00000417684,;PLEKHH1,intron_variant,,ENST00000329153,;PIGH,intron_variant,,ENST00000561272,;PIGH,downstream_gene_variant,,ENST00000558493,;PIGH,downstream_gene_variant,,ENST00000559581,;PIGH,downstream_gene_variant,,ENST00000558987,;PIGH,downstream_gene_variant,,ENST00000560722,;PIGH,downstream_gene_variant,,ENST00000216452,;PLEKHH1,downstream_gene_variant,,ENST00000559832,;PLEKHH1,3_prime_UTR_variant,,ENST00000561370,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558214,;PLEKHH1,intron_variant,,ENST00000561057,;PLEKHH1,intron_variant,,ENST00000559981,;PLEKHH1,intron_variant,,ENST00000558386,;PLEKHH1,intron_variant,,ENST00000557971,;PLEKHH1,intron_variant,,ENST00000559168,;PIGH,downstream_gene_variant,,ENST00000559118,;PIGH,downstream_gene_variant,,ENST00000561303,;PLEKHH1,downstream_gene_variant,,ENST00000560100,;PIGH,downstream_gene_variant,,ENST00000558198,;PIGH,downstream_gene_variant,,ENST00000558001,;PLEKHH1,downstream_gene_variant,,ENST00000559766,;PLEKHH1,downstream_gene_variant,,ENST00000558366,;	.	38	27	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68273376	68273376	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	46	85	0	ENST00000347230.4:c.903A>G	p.Leu301=	p.L301=	ENST00000347230	NM_015346.3	301	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9788.1	903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTAGATG	NONE	.	.	.	.	.	ENSP00000251119	.	6/42	.	.	.	.	.	.	.	.	.	6/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,synonymous_variant,p.%3D,ENST00000555452,;ZFYVE26,synonymous_variant,p.%3D,ENST00000347230,;ZFYVE26,synonymous_variant,p.%3D,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	1042	85	76	SUCCESS
TRIP11	9321	.	GRCh37	14	92472209	92472209	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	38	123	0	ENST00000267622.4:c.2111C>A	p.Ser704Tyr	p.S704Y	ENST00000267622	NM_004239.3	704	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS9899.1	2111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGAAAGC	NONE	.	.	hmmpanther:PTHR18921:SF2,hmmpanther:PTHR18921	.	.	ENSP00000267622	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000267622	Transcript	1	.	ENSG00000100815	12305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	tolerated(0.33)	.	TRIPB_HUMAN	TRIP11	HGNC	G3V4R7_HUMAN	.	UPI000013D767	SNV	TRIP11,missense_variant,p.Ser420Tyr,ENST00000554357,;TRIP11,missense_variant,p.Ser704Tyr,ENST00000267622,;	2485	123	107	SUCCESS
UBR7	55148	.	GRCh37	14	93673574	93673574	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	38	0	ENST00000013070.6:c.-63C>A		p.*21*	ENST00000013070	NM_175748.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9909.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGCCCCTC	NONE	.	.	.	.	.	ENSP00000013070	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000013070	Transcript	.	.	ENSG00000012963	20344	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR7_HUMAN	UBR7	HGNC	.	.	UPI00000373D9	SNV	UBR7,5_prime_UTR_variant,,ENST00000013070,;UBR7,5_prime_UTR_variant,,ENST00000416753,;RP11-371E8.4,intron_variant,,ENST00000557574,;UBR7,upstream_gene_variant,,ENST00000553857,;UBR7,upstream_gene_variant,,ENST00000555113,;C14orf142,upstream_gene_variant,,ENST00000306954,;UBR7,upstream_gene_variant,,ENST00000554232,;C14orf142,upstream_gene_variant,,ENST00000556566,;UBR7,upstream_gene_variant,,ENST00000556871,;RP11-371E8.4,intron_variant,,ENST00000557048,;RP11-371E8.4,intron_variant,,ENST00000554824,;UBR7,upstream_gene_variant,,ENST00000553674,;	174	38	34	SUCCESS
MAGEL2	54551	.	GRCh37	15	23889234	23889234	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773964986	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	33	74	0	ENST00000532292.1:c.1847C>T	p.Ala616Val	p.A616V	ENST00000532292	NM_019066.4	616	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	.	1847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCGCTTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	rs773964986	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Ala616Val,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	1942	74	62	SUCCESS
DNAJC17	55192	.	GRCh37	15	41060161	41060161	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	12	12	0	ENST00000220496.4:c.892G>A	p.Asp298Asn	p.D298N	ENST00000220496	NM_018163.2	298	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10065.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCTTCCT	NONE	.	.	hmmpanther:PTHR24078:SF153,hmmpanther:PTHR24078	.	.	ENSP00000220496	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000220496	Transcript	.	.	ENSG00000104129	25556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	DJC17_HUMAN	DNAJC17	HGNC	.	.	UPI00000375AE	SNV	DNAJC17,missense_variant,p.Asp298Asn,ENST00000220496,;GCHFR,downstream_gene_variant,,ENST00000260447,;C15orf62,upstream_gene_variant,,ENST00000344320,;GCHFR,downstream_gene_variant,,ENST00000561160,;GCHFR,downstream_gene_variant,,ENST00000559445,;GCHFR,downstream_gene_variant,,ENST00000558467,;GCHFR,downstream_gene_variant,,ENST00000559932,;DNAJC17,non_coding_transcript_exon_variant,,ENST00000558727,;GCHFR,downstream_gene_variant,,ENST00000558670,;DNAJC17,3_prime_UTR_variant,,ENST00000559238,;DNAJC17,non_coding_transcript_exon_variant,,ENST00000561110,;	923	12	16	SUCCESS
FBN1	2200	.	GRCh37	15	48888574	48888574	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	57	0	ENST00000316623.5:c.444T>C		p.X148_splice	ENST00000316623	NM_000138.4	148	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32232.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACAGCTGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Gene3D:2gy5A03,PIRSF_domain:PIRSF036312	.	.	ENSP00000325527	.	6/66	.	.	.	.	.	.	.	.	.	6/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,synonymous_variant,p.%3D,ENST00000316623,;FBN1,synonymous_variant,p.%3D,ENST00000537463,;	900	57	49	SUCCESS
TMC3	342125	.	GRCh37	15	81637267	81637267	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	10	136	0	ENST00000359440.5:c.1358G>C	p.Trp453Ser	p.W453S	ENST00000359440	NM_001080532.1	453	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS45324.1	1358	MUTECT|MUSE|VARSCANS	.	TGGACCATTTC	NONE	.	.	hmmpanther:PTHR23302:SF35,hmmpanther:PTHR23302	.	.	ENSP00000352413	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000359440	Transcript	.	.	ENSG00000188869	22995	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.04)	.	tolerated(0.07)	.	TMC3_HUMAN	TMC3	HGNC	.	.	UPI00006C154A	SNV	TMC3,missense_variant,p.Trp453Ser,ENST00000359440,;TMC3,missense_variant,p.Trp454Ser,ENST00000558726,;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;RP11-761I4.3,downstream_gene_variant,,ENST00000560973,;RP11-761I4.3,downstream_gene_variant,,ENST00000559277,;TMC3,non_coding_transcript_exon_variant,,ENST00000559982,;	1494	137	130	SUCCESS
TMC7	79905	.	GRCh37	16	19049311	19049311	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	101	0	ENST00000304381.5:c.1121G>A	p.Gly374Glu	p.G374E	ENST00000304381	NM_024847.3	374	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS10573.1	1121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGGGCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF9	.	.	ENSP00000304710	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000304381	Transcript	.	.	ENSG00000170537	23000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.04)	.	TMC7_HUMAN	TMC7	HGNC	E7ERB6_HUMAN	.	UPI00001AEDAD	SNV	TMC7,missense_variant,p.Gly374Glu,ENST00000569532,;TMC7,missense_variant,p.Gly264Glu,ENST00000421369,;TMC7,missense_variant,p.Gly374Glu,ENST00000304381,;TMC7,non_coding_transcript_exon_variant,,ENST00000561963,;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	1251	101	76	SUCCESS
VWA3A	146177	.	GRCh37	16	22149725	22149725	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	33	78	0	ENST00000389398.5:c.2184A>G	p.Val728=	p.V728=	ENST00000389398	NM_173615.3	728	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS45441.1	2184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTACTGGG	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105	.	.	ENSP00000374049	.	22/34	.	.	.	.	.	.	.	.	.	22/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,synonymous_variant,p.%3D,ENST00000563389,;VWA3A,synonymous_variant,p.%3D,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,downstream_gene_variant,,ENST00000568328,;VWA3A,synonymous_variant,p.%3D,ENST00000299840,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;	2280	78	55	SUCCESS
SCNN1G	6340	.	GRCh37	16	23226546	23226546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	40	50	0	ENST00000300061.2:c.1706C>A	p.Ala569Asp	p.A569D	ENST00000300061	NM_001039.3	569	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS10608.1	1706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGCCAAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,TIGRFAM_domain:TIGR00859	.	.	ENSP00000300061	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.453)	.	tolerated(0.13)	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,missense_variant,p.Ala569Asp,ENST00000300061,;CTC-391G2.1,upstream_gene_variant,,ENST00000563471,;	1849	50	60	SUCCESS
AMFR	267	.	GRCh37	16	56396835	56396835	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1232716103	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	51	0	ENST00000290649.5:c.1918C>T	p.Gln640Ter	p.Q640*	ENST00000290649	NM_001144.5	640	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS10758.1	1918	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCTTCT	NONE	.	.	.	.	.	ENSP00000290649	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000290649	Transcript	.	.	ENSG00000159461	463	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMFR_HUMAN	AMFR	HGNC	Q6PGR1_HUMAN,Q1RN03_HUMAN,H3BSK3_HUMAN,H3BQM3_HUMAN	.	UPI000013EDCA	SNV	AMFR,stop_gained,p.Gln640Ter,ENST00000290649,;AMFR,stop_gained,p.Gln296Ter,ENST00000492830,;AMFR,downstream_gene_variant,,ENST00000567738,;AMFR,non_coding_transcript_exon_variant,,ENST00000568325,;AMFR,non_coding_transcript_exon_variant,,ENST00000566757,;AMFR,non_coding_transcript_exon_variant,,ENST00000563285,;AMFR,downstream_gene_variant,,ENST00000566334,;	2129	51	30	SUCCESS
CES2	8824	.	GRCh37	16	66976621	66976621	+	synonymous_variant	Silent	SNP	G	G	A	rs768040510	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	70	0	ENST00000317091.4:c.1545G>A	p.Pro515=	p.P515=	ENST00000317091	NM_003869.5	515	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10825.1	1545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCACAT	NONE	byFrequency	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF148,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000317842	.	10/12	.	.	.	.	.	.	.	.	rs768040510	10/12	PASS	ENST00000317091	Transcript	.	.	ENSG00000172831	1864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EST2_HUMAN	CES2	HGNC	J3QLP1_HUMAN,J3QKN7_HUMAN	.	UPI0000074733	SNV	CES2,synonymous_variant,p.%3D,ENST00000564420,;CES2,synonymous_variant,p.%3D,ENST00000317091,;CES2,synonymous_variant,p.%3D,ENST00000417689,;CES2,downstream_gene_variant,,ENST00000561697,;RP11-361L15.4,non_coding_transcript_exon_variant,,ENST00000566869,;CES2,3_prime_UTR_variant,,ENST00000568470,;CES2,non_coding_transcript_exon_variant,,ENST00000568347,;CES2,non_coding_transcript_exon_variant,,ENST00000567128,;CES2,non_coding_transcript_exon_variant,,ENST00000563988,;CES2,downstream_gene_variant,,ENST00000561843,;CES2,downstream_gene_variant,,ENST00000570032,;CES2,downstream_gene_variant,,ENST00000566359,;	2529	70	89	SUCCESS
CTCF	10664	.	GRCh37	16	67650677	67650677	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	33	103	0	ENST00000264010.4:c.982G>T	p.Asp328Tyr	p.D328Y	ENST00000264010	NM_006565.3	328	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS10841.1	982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGACATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264010	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000264010	Transcript	.	.	ENSG00000102974	13723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.692)	.	deleterious(0)	.	CTCF_HUMAN	CTCF	HGNC	.	.	UPI0000000DDE	SNV	CTCF,missense_variant,p.Asp328Tyr,ENST00000264010,;CTCF,5_prime_UTR_variant,,ENST00000401394,;AC009095.4,upstream_gene_variant,,ENST00000388909,;CTCF,downstream_gene_variant,,ENST00000566078,;	1426	103	121	SUCCESS
ZNF23	7571	.	GRCh37	16	71482852	71482852	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	71	0	ENST00000357254.4:c.1076C>G	p.Thr359Arg	p.T359R	ENST00000357254		359	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS10900.1	1076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGTGTGG	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24377:SF180,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000377171	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393539	Transcript	.	.	ENSG00000167377	13023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ZNF23_HUMAN	ZNF23	HGNC	Q8NDP5_HUMAN,H3BPE6_HUMAN	.	UPI000013C406	SNV	ZNF23,missense_variant,p.Thr301Arg,ENST00000428724,;ZNF23,missense_variant,p.Thr359Arg,ENST00000393539,;ZNF23,missense_variant,p.Thr359Arg,ENST00000357254,;ZNF23,missense_variant,p.Thr359Arg,ENST00000417828,;ZNF23,missense_variant,p.Thr301Arg,ENST00000564528,;ZNF23,3_prime_UTR_variant,,ENST00000358700,;ZNF23,3_prime_UTR_variant,,ENST00000497160,;ZNF23,downstream_gene_variant,,ENST00000565718,;ZNF23,downstream_gene_variant,,ENST00000567340,;ZNF23,non_coding_transcript_exon_variant,,ENST00000539742,;AC010547.9,3_prime_UTR_variant,,ENST00000561908,;ZNF23,non_coding_transcript_exon_variant,,ENST00000576258,;	1890	71	55	SUCCESS
CRISPLD2	83716	.	GRCh37	16	84884214	84884214	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	82	0	ENST00000262424.5:c.533A>G	p.Asn178Ser	p.N178S	ENST00000262424	NM_031476.3	178	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS10949.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAACACCT	NONE	.	.	hmmpanther:PTHR10334:SF64,hmmpanther:PTHR10334,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797	.	.	ENSP00000262424	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000262424	Transcript	.	.	ENSG00000103196	25248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	tolerated(0.06)	.	CRLD2_HUMAN	CRISPLD2	HGNC	H3BTP0_HUMAN,H3BSZ9_HUMAN,H3BS62_HUMAN	.	UPI00000411B0	SNV	CRISPLD2,missense_variant,p.Asn21Ser,ENST00000566789,;CRISPLD2,missense_variant,p.Asn178Ser,ENST00000564567,;CRISPLD2,missense_variant,p.Asn21Ser,ENST00000563066,;CRISPLD2,missense_variant,p.Asn178Ser,ENST00000567845,;CRISPLD2,missense_variant,p.Asn178Ser,ENST00000262424,;CRISPLD2,downstream_gene_variant,,ENST00000569090,;AC025280.1,upstream_gene_variant,,ENST00000584136,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000566431,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000569262,;	757	82	78	SUCCESS
GRIN2A	2903	.	GRCh37	16	9934503	9934503	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	127	0	ENST00000330684.3:c.1651+1G>T		p.X551_splice	ENST00000330684	NM_001134407.1	551		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10539.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACACCTAGA	NONE	.	.	.	.	.	ENSP00000379818	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	HIGH	8/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,splice_donor_variant,,ENST00000396573,;GRIN2A,splice_donor_variant,,ENST00000404927,;GRIN2A,splice_donor_variant,,ENST00000535259,;GRIN2A,splice_donor_variant,,ENST00000330684,;GRIN2A,splice_donor_variant,,ENST00000396575,;GRIN2A,splice_donor_variant,,ENST00000562109,;	.	127	127	SUCCESS
OR1E2	8388	.	GRCh37	17	3336194	3336194	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	125	0	ENST00000248384.1:c.942T>A	p.Ile314=	p.I314=	ENST00000248384	NM_003554.1	314	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11026.1	942	MUTECT|MUSE|VARSCANS	.	TTACAAATGAC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF137,hmmpanther:PTHR26451	.	.	ENSP00000248384	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248384	Transcript	.	.	ENSG00000127780	8190	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR1E2_HUMAN	OR1E2	HGNC	Q6IFM7_HUMAN	.	UPI0000041BBF	SNV	OR1E2,synonymous_variant,p.%3D,ENST00000248384,;	942	125	45	SUCCESS
KRTAP4-7	100132476	.	GRCh37	17	39240735	39240735	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	29	19	0	ENST00000391417.4:c.277A>C	p.Ser93Arg	p.S93R	ENST00000391417	NM_033061.3	93	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS45673.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAGCTGC	BUFFER|p.M91V|c.271A>G|4,BUFFER|p.M82V|c.244A>G|4,BUFFER|p.K87R|c.260A>G|3,BUFFER|p.K96R|c.287A>G|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF14,hmmpanther:PTHR23262	.	.	ENSP00000375236	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391417	Transcript	.	.	ENSG00000240871	18898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	KRA47_HUMAN	KRTAP4-7	HGNC	.	.	UPI00001B0238	SNV	KRTAP4-7,missense_variant,p.Ser93Arg,ENST00000391417,;	277	19	34	SUCCESS
GPS1	2873	.	GRCh37	17	80010109	80010109	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	55	54	0	ENST00000306823.6:c.33+269G>T		p.*11*	ENST00000306823				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11800.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGCTAAC	NONE	.	.	.	.	.	ENSP00000376167	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000392358	Transcript	.	.	ENSG00000169727	4549	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN1_HUMAN	GPS1	HGNC	J3QS88_HUMAN,J3QL53_HUMAN,J3KTB0_HUMAN,J3KSA5_HUMAN,C9JFE4_HUMAN,A8K070_HUMAN	.	UPI0000231C2E	SNV	GPS1,5_prime_UTR_variant,,ENST00000392358,;GPS1,5_prime_UTR_variant,,ENST00000583009,;GPS1,intron_variant,,ENST00000583641,;GPS1,intron_variant,,ENST00000578552,;GPS1,intron_variant,,ENST00000320548,;GPS1,intron_variant,,ENST00000581418,;GPS1,intron_variant,,ENST00000581578,;GPS1,intron_variant,,ENST00000580716,;GPS1,intron_variant,,ENST00000355130,;GPS1,intron_variant,,ENST00000583961,;GPS1,intron_variant,,ENST00000582327,;GPS1,intron_variant,,ENST00000306823,;GPS1,intron_variant,,ENST00000583885,;GPS1,intron_variant,,ENST00000585084,;RFNG,upstream_gene_variant,,ENST00000310496,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000578168,;RFNG,upstream_gene_variant,,ENST00000429557,;GPS1,intron_variant,,ENST00000584229,;RFNG,upstream_gene_variant,,ENST00000580928,;GPS1,downstream_gene_variant,,ENST00000583983,;RFNG,upstream_gene_variant,,ENST00000584838,;GPS1,intron_variant,,ENST00000580141,;GPS1,intron_variant,,ENST00000584460,;GPS1,intron_variant,,ENST00000580627,;GPS1,intron_variant,,ENST00000578642,;GPS1,intron_variant,,ENST00000580723,;GPS1,intron_variant,,ENST00000578392,;RFNG,upstream_gene_variant,,ENST00000584515,;RFNG,upstream_gene_variant,,ENST00000582478,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000578279,;RFNG,upstream_gene_variant,,ENST00000580953,;GPS1,upstream_gene_variant,,ENST00000583486,;RFNG,upstream_gene_variant,,ENST00000584463,;RFNG,upstream_gene_variant,,ENST00000583784,;RFNG,upstream_gene_variant,,ENST00000578676,;RFNG,upstream_gene_variant,,ENST00000580793,;	276	54	66	SUCCESS
PRKCSH	5589	.	GRCh37	19	11553327	11553327	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	62	0	ENST00000589838.1:c.595G>A	p.Glu199Lys	p.E199K	ENST00000589838		199	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS32911.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGGAAGGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF1	.	.	ENSP00000252455	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000252455	Transcript	1	.	ENSG00000130175	9411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	GLU2B_HUMAN	PRKCSH	HGNC	K7EPW7_HUMAN,K7EKX1_HUMAN,K7EJ70_HUMAN,K7EIP3_HUMAN	.	UPI000007007F	SNV	PRKCSH,missense_variant,p.Glu199Lys,ENST00000589838,;PRKCSH,missense_variant,p.Glu199Lys,ENST00000412601,;PRKCSH,missense_variant,p.Glu199Lys,ENST00000592741,;PRKCSH,missense_variant,p.Glu199Lys,ENST00000591462,;PRKCSH,missense_variant,p.Glu199Lys,ENST00000587327,;PRKCSH,missense_variant,p.Glu199Lys,ENST00000252455,;PRKCSH,downstream_gene_variant,,ENST00000587509,;PRKCSH,downstream_gene_variant,,ENST00000588269,;PRKCSH,downstream_gene_variant,,ENST00000593101,;PRKCSH,downstream_gene_variant,,ENST00000589126,;snoU13,downstream_gene_variant,,ENST00000459022,;PRKCSH,downstream_gene_variant,,ENST00000593104,;PRKCSH,downstream_gene_variant,,ENST00000593053,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000589990,;PRKCSH,upstream_gene_variant,,ENST00000592445,;PRKCSH,upstream_gene_variant,,ENST00000585540,;PRKCSH,upstream_gene_variant,,ENST00000585325,;	931	62	38	SUCCESS
OR10H1	26539	.	GRCh37	19	15918704	15918704	+	synonymous_variant	Silent	SNP	G	G	A	rs142314142	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	119	0	ENST00000334920.2:c.144C>T	p.Thr48=	p.T48=	ENST00000334920	NM_013940.2	48	acC/acT	0	A:0.0016	A:0.0008	.	A:0	.	A	T	protein_coding	YES	CCDS12335.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGTGGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	A:0	A:0	ENSP00000335596	A:0	1/1	.	.	.	.	.	.	.	.	rs142314142	1/1	PASS	ENST00000334920	Transcript	.	A:0.0002	ENSG00000186723	8172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,synonymous_variant,p.%3D,ENST00000334920,;	233	119	56	SUCCESS
ZNF507	22847	.	GRCh37	19	32845521	32845524	+	frameshift_variant	Frame_Shift_Del	DEL	AGAA	AGAA	-	rs1349650607	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	AGAA	AGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	29	33	104	0	ENST00000311921.4:c.1787_1790del	p.Glu596GlyfsTer12	p.E596Gfs*12	ENST00000311921	NM_014910.4	595	agAGAA/ag	0	.	.	.	.	.	-	RE/X	protein_coding	YES	CCDS32985.1	1785-1788	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGAGAGAAAGGAC	NONE	.	.	hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402	.	.	ENSP00000312277	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000311921	Transcript	.	.	ENSG00000168813	23783	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN507_HUMAN	ZNF507	HGNC	.	.	UPI0000202010	deletion	ZNF507,frameshift_variant,p.Glu596GlyfsTer12,ENST00000355898,;ZNF507,frameshift_variant,p.Glu596GlyfsTer12,ENST00000311921,;ZNF507,frameshift_variant,p.Glu596GlyfsTer12,ENST00000544431,;ZNF507,non_coding_transcript_exon_variant,,ENST00000587084,;	1977-1980	104	62	SUCCESS
PDCD2L	84306	.	GRCh37	19	34895344	34895344	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	29	0	ENST00000246535.3:c.9C>G	p.Ala3=	p.A3=	ENST00000246535	NM_032346.1	3	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS12438.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCGTTCT	NONE	.	.	.	.	.	ENSP00000246535	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000246535	Transcript	.	.	ENSG00000126249	28194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDD2L_HUMAN	PDCD2L	HGNC	U3KQL1_HUMAN	.	UPI0000038A65	SNV	PDCD2L,synonymous_variant,p.%3D,ENST00000246535,;RP11-618P17.4,intron_variant,,ENST00000592740,;RP11-618P17.4,intron_variant,,ENST00000606020,;GPI,downstream_gene_variant,,ENST00000415930,;GPI,downstream_gene_variant,,ENST00000588991,;PDCD2L,upstream_gene_variant,,ENST00000587065,;GPI,downstream_gene_variant,,ENST00000586425,;GPI,downstream_gene_variant,,ENST00000356487,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000587385,;PDCD2L,upstream_gene_variant,,ENST00000585821,;GPI,downstream_gene_variant,,ENST00000586077,;GPI,downstream_gene_variant,,ENST00000586392,;	56	29	17	SUCCESS
ZNF793	390927	.	GRCh37	19	38028629	38028629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761931337	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	93	0	ENST00000445217.1:c.1069C>T	p.His357Tyr	p.H357Y	ENST00000445217		357	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS46062.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAACATTGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000396402	.	4/4	.	.	.	.	.	.	.	.	rs761931337	4/4	PASS	ENST00000445217	Transcript	.	.	ENSG00000188227	33115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	SNV	ZNF793,missense_variant,p.His357Tyr,ENST00000587143,;ZNF793,missense_variant,p.His357Tyr,ENST00000542455,;ZNF793,missense_variant,p.His357Tyr,ENST00000445217,;ZNF793,3_prime_UTR_variant,,ENST00000588578,;ZNF793,intron_variant,,ENST00000589319,;ZNF793,downstream_gene_variant,,ENST00000587490,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,downstream_gene_variant,,ENST00000587986,;ZNF793,intron_variant,,ENST00000586187,;	1104	93	47	SUCCESS
FCGBP	8857	.	GRCh37	19	40433334	40433334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	44	0	ENST00000221347.6:c.935G>T	p.Gly312Val	p.G312V	ENST00000221347	NM_003890.2	312	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12546.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCCCACA	NONE	.	.	.	.	.	ENSP00000221347	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Gly312Val,ENST00000221347,;	943	44	16	SUCCESS
CKM	1158	.	GRCh37	19	45810804	45810804	+	synonymous_variant	Silent	SNP	G	G	T	rs752715405	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	57	0	ENST00000221476.3:c.882C>A	p.Gly294=	p.G294=	ENST00000221476	NM_001824.4	294	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12659.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGCCTCC	NONE	.	.	PROSITE_profiles:PS51510,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931	.	.	ENSP00000221476	.	7/8	.	.	.	.	.	.	.	.	rs752715405	7/8	PASS	ENST00000221476	Transcript	.	.	ENSG00000104879	1994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCRM_HUMAN	CKM	HGNC	.	.	UPI000012DCC3	SNV	CKM,synonymous_variant,p.%3D,ENST00000221476,;MARK4,downstream_gene_variant,,ENST00000262891,;MARK4,downstream_gene_variant,,ENST00000300843,;	1057	57	37	SUCCESS
CCDC8	83987	.	GRCh37	19	46916714	46916714	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	51	149	0	ENST00000307522.3:c.-647G>A		p.*216*	ENST00000307522	NM_032040.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12685.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCCAGCC	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,5_prime_UTR_variant,,ENST00000307522,;	128	149	112	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49962955	49962955	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1302672559	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	77	0	ENST00000293350.4:c.349C>T	p.Arg117Trp	p.R117W	ENST00000293350	NM_153329.3	117	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12766.1	349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCGGCTG	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF113,Gene3D:3.40.605.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036490,Superfamily_domains:SSF53720	.	.	ENSP00000293350	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,missense_variant,p.Arg117Trp,ENST00000293350,;ALDH16A1,missense_variant,p.Arg117Trp,ENST00000455361,;ALDH16A1,5_prime_UTR_variant,,ENST00000433981,;ALDH16A1,intron_variant,,ENST00000540132,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000598015,;ALDH16A1,missense_variant,p.Ala40Val,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,upstream_gene_variant,,ENST00000599536,;ALDH16A1,upstream_gene_variant,,ENST00000600265,;	512	77	57	SUCCESS
NLRP4	147945	.	GRCh37	19	56372857	56372857	+	synonymous_variant	Silent	SNP	C	C	A	rs200258143	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	78	0	ENST00000301295.6:c.1962C>A	p.Thr654=	p.T654=	ENST00000301295	NM_134444.4	654	acC/acA	0	.	G:0	.	G:0	.	A	T	protein_coding	YES	CCDS12936.1	1962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGACCTTTGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	G:0.001	.	ENSP00000301295	G:0	4/10	.	.	.	.	.	.	.	.	rs200258143	4/10	PASS	ENST00000301295	Transcript	.	G:0.0002	ENSG00000160505	22943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,synonymous_variant,p.%3D,ENST00000589437,;NLRP4,synonymous_variant,p.%3D,ENST00000301295,;NLRP4,synonymous_variant,p.%3D,ENST00000346986,;NLRP4,synonymous_variant,p.%3D,ENST00000587891,;NLRP4,downstream_gene_variant,,ENST00000587464,;	2384	78	37	SUCCESS
ZIM3	114026	.	GRCh37	19	57647323	57647323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	37	137	0	ENST00000269834.1:c.382C>T	p.Pro128Ser	p.P128S	ENST00000269834	NM_052882.1	128	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33125.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGAAGTA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30	.	.	ENSP00000269834	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269834	Transcript	.	.	ENSG00000141946	16366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.67)	.	ZIM3_HUMAN	ZIM3	HGNC	.	.	UPI000013C3E0	SNV	ZIM3,missense_variant,p.Pro128Ser,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000598197,;USP29,downstream_gene_variant,,ENST00000254181,;U3,upstream_gene_variant,,ENST00000516874,;	768	137	80	SUCCESS
ZNF417	147687	.	GRCh37	19	58420786	58420786	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749687415	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	65	236	0	ENST00000312026.5:c.860A>T	p.Gln287Leu	p.Q287L	ENST00000312026	NM_152475.2	287	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS12965.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTGATGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	.	.	ENSP00000311319	.	3/3	.	.	.	.	.	.	.	.	rs749687415	3/3	PASS	ENST00000312026	Transcript	.	.	ENSG00000173480	20646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.07)	.	ZN417_HUMAN	ZNF417	HGNC	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN,B4DEU1_HUMAN	.	UPI000013F249	SNV	ZNF417,missense_variant,p.Gln286Leu,ENST00000595559,;ZNF417,missense_variant,p.Gln88Leu,ENST00000536263,;ZNF417,missense_variant,p.Gln287Leu,ENST00000312026,;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000598629,;ZNF417,downstream_gene_variant,,ENST00000599251,;ZNF417,downstream_gene_variant,,ENST00000598526,;ZNF417,downstream_gene_variant,,ENST00000597515,;CTD-2583A14.9,intron_variant,,ENST00000602124,;	1025	236	165	SUCCESS
ZSCAN18	65982	.	GRCh37	19	58597611	58597611	+	synonymous_variant	Silent	SNP	G	G	A	rs147947490	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	46	198	0	ENST00000240727.6:c.768C>T	p.Asp256=	p.D256=	ENST00000240727	NM_023926.4	256	gaC/gaT	0	C:0.0168	C:0.0174	.	C:0.0014	.	A	D	protein_coding	YES	CCDS46214.1	936	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGTCAGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10032:SF6,hmmpanther:PTHR10032	C:0	C:0.0002	ENSP00000470123	C:0.001	6/7	.	.	.	.	.	.	.	.	rs147947490	6/7	PASS	ENST00000600404	Transcript	.	C:0.0050	ENSG00000121413	21037	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	ZSC18_HUMAN	ZSCAN18	HGNC	Q69Z04_HUMAN,M0R1U9_HUMAN	.	UPI00017A6DAF	SNV	ZSCAN18,missense_variant,p.Thr29Met,ENST00000600522,;ZSCAN18,synonymous_variant,p.%3D,ENST00000601144,;ZSCAN18,synonymous_variant,p.%3D,ENST00000240727,;ZSCAN18,synonymous_variant,p.%3D,ENST00000433686,;ZSCAN18,synonymous_variant,p.%3D,ENST00000421612,;ZSCAN18,synonymous_variant,p.%3D,ENST00000600404,;ZSCAN18,downstream_gene_variant,,ENST00000595721,;ZSCAN18,downstream_gene_variant,,ENST00000601063,;ZSCAN18,downstream_gene_variant,,ENST00000600897,;ZSCAN18,downstream_gene_variant,,ENST00000600845,;ZNF135,3_prime_UTR_variant,,ENST00000515535,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000598497,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000596372,;ZSCAN18,downstream_gene_variant,,ENST00000594191,;ZSCAN18,downstream_gene_variant,,ENST00000595784,;ZSCAN18,downstream_gene_variant,,ENST00000600318,;	966	198	94	SUCCESS
MISP	126353	.	GRCh37	19	763554	763554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	40	0	ENST00000215582.6:c.2004G>T	p.Trp668Cys	p.W668C	ENST00000215582	NM_173481.2	668	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS12042.1	2004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGGAATC	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Trp668Cys,ENST00000215582,;	2107	40	22	SUCCESS
AGL	178	.	GRCh37	1	100356775	100356775	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	58	0	ENST00000294724.4:c.2813-1G>T		p.X938_splice	ENST00000294724	NM_000028.2	938		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS759.1	.	RADIA|MUTECT|MUSE	.	TTTCAGGTTTA	NONE	.	.	.	.	.	ENSP00000294724	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	HIGH	21/33	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,splice_acceptor_variant,,ENST00000370163,;AGL,splice_acceptor_variant,,ENST00000361302,;AGL,splice_acceptor_variant,,ENST00000294724,;AGL,splice_acceptor_variant,,ENST00000370165,;AGL,splice_acceptor_variant,,ENST00000361522,;AGL,splice_acceptor_variant,,ENST00000370161,;AGL,splice_acceptor_variant,,ENST00000361915,;	.	58	77	SUCCESS
AGL	178	.	GRCh37	1	100356784	100356784	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	66	0	ENST00000294724.4:c.2821T>G	p.Ser941Ala	p.S941A	ENST00000294724	NM_000028.2	941	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS759.1	2821	RADIA|MUTECT|MUSE	.	TAATGTCTGTA	NONE	.	.	hmmpanther:PTHR10569,Pfam_domain:PF14702,TIGRFAM_domain:TIGR01531	.	.	ENSP00000294724	.	22/34	.	.	.	.	.	.	.	.	.	22/34	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.826)	.	deleterious(0.04)	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,missense_variant,p.Ser941Ala,ENST00000370163,;AGL,missense_variant,p.Ser925Ala,ENST00000361302,;AGL,missense_variant,p.Ser941Ala,ENST00000294724,;AGL,missense_variant,p.Ser941Ala,ENST00000370165,;AGL,missense_variant,p.Ser924Ala,ENST00000361522,;AGL,missense_variant,p.Ser925Ala,ENST00000370161,;AGL,missense_variant,p.Ser941Ala,ENST00000361915,;	3299	66	82	SUCCESS
ADORA3	140	.	GRCh37	1	112031572	112031572	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	115	209	0	ENST00000369717.4:c.289G>T	p.Ala97Ser	p.A97S	ENST00000369717	NM_001081976.1	97	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS838.1	532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCATTGT	NONE	.	.	hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF4,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000358730	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000369716	Transcript	.	.	ENSG00000121933	268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	deleterious_low_confidence(0.01)	.	AA3R_HUMAN	ADORA3	HGNC	.	.	UPI000004C602	SNV	ADORA3,missense_variant,p.Ala38Ser,ENST00000414219,;ADORA3,missense_variant,p.Ala97Ser,ENST00000369717,;ADORA3,missense_variant,p.Ala178Ser,ENST00000369716,;ADORA3,intron_variant,,ENST00000443498,;ADORA3,intron_variant,,ENST00000442484,;RNU6-792P,downstream_gene_variant,,ENST00000363490,;ADORA3,non_coding_transcript_exon_variant,,ENST00000463993,;ADORA3,upstream_gene_variant,,ENST00000472933,;	666	209	252	SUCCESS
PFDN2	5202	.	GRCh37	1	161087831	161087831	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	14	60	0	ENST00000368010.3:c.-15C>T		p.*5*	ENST00000368010	NM_012394.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1217.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGGGTTT	NONE	.	.	.	.	.	ENSP00000356989	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000368010	Transcript	.	.	ENSG00000143256	8867	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PFD2_HUMAN	PFDN2	HGNC	B1AQP2_HUMAN	.	UPI000000DBA5	SNV	PFDN2,5_prime_UTR_variant,,ENST00000368010,;NIT1,upstream_gene_variant,,ENST00000368008,;DEDD,downstream_gene_variant,,ENST00000490843,;NIT1,upstream_gene_variant,,ENST00000368009,;DEDD,downstream_gene_variant,,ENST00000464113,;DEDD,downstream_gene_variant,,ENST00000368006,;DEDD,downstream_gene_variant,,ENST00000458050,;DEDD,downstream_gene_variant,,ENST00000392188,;DEDD,downstream_gene_variant,,ENST00000368005,;NIT1,upstream_gene_variant,,ENST00000392190,;NIT1,upstream_gene_variant,,ENST00000368007,;DEDD,downstream_gene_variant,,ENST00000545495,;PFDN2,non_coding_transcript_exon_variant,,ENST00000468311,;NIT1,upstream_gene_variant,,ENST00000478277,;NIT1,upstream_gene_variant,,ENST00000486962,;NIT1,upstream_gene_variant,,ENST00000461376,;NIT1,upstream_gene_variant,,ENST00000491497,;DEDD,downstream_gene_variant,,ENST00000486041,;NIT1,upstream_gene_variant,,ENST00000473918,;NIT1,upstream_gene_variant,,ENST00000496768,;DEDD,downstream_gene_variant,,ENST00000489249,;NIT1,upstream_gene_variant,,ENST00000477684,;DEDD,downstream_gene_variant,,ENST00000472996,;NIT1,upstream_gene_variant,,ENST00000479728,;NIT1,upstream_gene_variant,,ENST00000496861,;DEDD,downstream_gene_variant,,ENST00000473679,;NIT1,upstream_gene_variant,,ENST00000492411,;DEDD,downstream_gene_variant,,ENST00000496632,;NIT1,upstream_gene_variant,,ENST00000485594,;DEDD,downstream_gene_variant,,ENST00000463227,;NIT1,upstream_gene_variant,,ENST00000479266,;	71	60	100	SUCCESS
PRRX1	5396	.	GRCh37	1	170633465	170633465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	190	244	0	ENST00000239461.6:c.106G>T	p.Val36Phe	p.V36F	ENST00000239461	NM_022716.2	36	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1290.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGTCAGT	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF300	.	.	ENSP00000239461	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000239461	Transcript	.	.	ENSG00000116132	9142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PRRX1_HUMAN	PRRX1	HGNC	.	.	UPI0000131D11	SNV	PRRX1,missense_variant,p.Val36Phe,ENST00000497230,;PRRX1,missense_variant,p.Val36Phe,ENST00000239461,;PRRX1,missense_variant,p.Val36Phe,ENST00000367760,;RP1-79C4.4,upstream_gene_variant,,ENST00000606154,;PRRX1,non_coding_transcript_exon_variant,,ENST00000553786,;	419	244	325	SUCCESS
BRINP2	57795	.	GRCh37	1	177199003	177199003	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs376274006	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	255	55	176	0	ENST00000361539.4:c.-10C>T		p.*4*	ENST00000361539	NM_021165.2			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS1320.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCCGGGAG	NONE	byCluster	.	.	.	T:0.0001	ENSP00000354481	.	2/8	.	.	.	.	.	.	.	.	rs376274006	2/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,5_prime_UTR_variant,,ENST00000361539,;	303	177	311	SUCCESS
CACNA1E	777	.	GRCh37	1	181701871	181701871	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	117	146	0	ENST00000367573.2:c.2649G>T	p.Trp883Cys	p.W883C	ENST00000367573	NM_001205293.1	883	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS55664.1	2649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGCTGGC	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	20/48	.	.	.	.	.	.	.	.	.	20/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	tolerated(0.21)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Trp815Cys,ENST00000358338,;CACNA1E,missense_variant,p.Trp490Cys,ENST00000367567,;CACNA1E,missense_variant,p.Trp834Cys,ENST00000357570,;CACNA1E,missense_variant,p.Trp864Cys,ENST00000360108,;CACNA1E,missense_variant,p.Trp864Cys,ENST00000526775,;CACNA1E,missense_variant,p.Trp883Cys,ENST00000367573,;CACNA1E,missense_variant,p.Trp883Cys,ENST00000367570,;	2649	146	206	SUCCESS
NMNAT2	23057	.	GRCh37	1	183273987	183273987	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	17	0	ENST00000287713.6:c.86-11059G>T		p.*29*	ENST00000287713	NM_015039.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1353.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTACCTCCA	NONE	.	.	.	.	.	ENSP00000287713	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000287713	Transcript	.	.	ENSG00000157064	16789	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMNA2_HUMAN	NMNAT2	HGNC	.	.	UPI00000706AB	SNV	NMNAT2,5_prime_UTR_variant,,ENST00000294868,;NMNAT2,intron_variant,,ENST00000287713,;	.	17	27	SUCCESS
F13B	2165	.	GRCh37	1	197032133	197032133	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1453580885	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	116	126	0	ENST00000367412.1:c.119A>G	p.Tyr40Cys	p.Y40C	ENST00000367412	NM_001994.2	40	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1388.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTATAGTAA	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356382	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000367412	Transcript	.	.	ENSG00000143278	3534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F13B_HUMAN	F13B	HGNC	.	.	UPI000013D8E0	SNV	F13B,missense_variant,p.Tyr40Cys,ENST00000367412,;	163	126	218	SUCCESS
NAV1	89796	.	GRCh37	1	201752875	201752875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	48	0	ENST00000367296.4:c.2699G>A	p.Ser900Asn	p.S900N	ENST00000367296	NM_020443.4	900	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS1414.2	2699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGCAGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF3,hmmpanther:PTHR12784	.	.	ENSP00000356265	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000367296	Transcript	.	.	ENSG00000134369	15989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	tolerated(0.06)	.	NAV1_HUMAN	NAV1	HGNC	.	.	UPI00004562D4	SNV	NAV1,missense_variant,p.Ser900Asn,ENST00000367297,;NAV1,missense_variant,p.Ser900Asn,ENST00000367300,;NAV1,missense_variant,p.Ser900Asn,ENST00000295624,;NAV1,missense_variant,p.Ser458Asn,ENST00000430015,;NAV1,missense_variant,p.Ser913Asn,ENST00000367302,;NAV1,missense_variant,p.Ser900Asn,ENST00000367296,;NAV1,missense_variant,p.Ser509Asn,ENST00000367295,;NAV1,upstream_gene_variant,,ENST00000438083,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,non_coding_transcript_exon_variant,,ENST00000490213,;NAV1,non_coding_transcript_exon_variant,,ENST00000469130,;NAV1,upstream_gene_variant,,ENST00000477118,;	3119	48	104	SUCCESS
ELF3	1999	.	GRCh37	1	201982370	201982370	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	142	160	0	ENST00000359651.3:c.749C>G	p.Pro250Arg	p.P250R	ENST00000359651		250	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS1419.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCCCCGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF13	.	.	ENSP00000352673	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000359651	Transcript	.	.	ENSG00000163435	3318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0)	.	ELF3_HUMAN	ELF3	HGNC	.	.	UPI0000034E32	SNV	ELF3,missense_variant,p.Pro250Arg,ENST00000367284,;ELF3,missense_variant,p.Pro250Arg,ENST00000359651,;ELF3,missense_variant,p.Pro250Arg,ENST00000367283,;ELF3,downstream_gene_variant,,ENST00000446188,;RP11-510N19.5,intron_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000490203,;ELF3,non_coding_transcript_exon_variant,,ENST00000470384,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,downstream_gene_variant,,ENST00000479874,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,downstream_gene_variant,,ENST00000495848,;	3941	160	226	SUCCESS
MAPKAPK2	9261	.	GRCh37	1	206905738	206905738	+	intron_variant	Intron	SNP	G	G	T	rs116280694	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	31	42	0	ENST00000367103.3:c.1060-182G>T		p.*354*	ENST00000367103	NM_004759.4			0	.	A:0	.	A:0.0043	.	T	.	protein_coding	YES	CCDS31001.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGCTGGG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000356070	A:0.004	.	.	.	.	.	.	.	.	.	rs116280694	.	PASS	ENST00000367103	Transcript	.	A:0.0014	ENSG00000162889	6887	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MAPK2_HUMAN	MAPKAPK2	HGNC	.	.	UPI0000112289	SNV	MAPKAPK2,3_prime_UTR_variant,,ENST00000294981,;MAPKAPK2,intron_variant,,ENST00000367103,;MAPKAPK2,downstream_gene_variant,,ENST00000479009,;MAPKAPK2,downstream_gene_variant,,ENST00000493447,;	.	42	48	SUCCESS
USH2A	7399	.	GRCh37	1	216173882	216173882	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765556975	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	82	0	ENST00000307340.3:c.6348C>G	p.His2116Gln	p.H2116Q	ENST00000307340	NM_206933.2	2116	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS31025.1	6348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGTGGGG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	33/72	.	.	.	.	.	.	.	.	rs765556975	33/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.His2116Gln,ENST00000366943,;USH2A,missense_variant,p.His2116Gln,ENST00000307340,;	6735	82	109	SUCCESS
DEGS1	8560	.	GRCh37	1	224370959	224370961	+	5_prime_UTR_variant	5'UTR	DEL	GCC	GCC	-	rs531583910	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	GCC	GCC	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	38	0	ENST00000323699.4:c.-65_-63del		p.*22*	ENST00000323699	NM_003676.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1540.1	.	INDELOCATOR|VARSCANI	.	CGGGGAGCCGCCGC	NONE	.	.	.	.	.	ENSP00000316476	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000323699	Transcript	.	.	ENSG00000143753	13709	15	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEGS1_HUMAN	DEGS1	HGNC	.	.	UPI000007137B	deletion	DEGS1,5_prime_UTR_variant,,ENST00000323699,;DEGS1,intron_variant,,ENST00000415210,;DEGS1,upstream_gene_variant,,ENST00000391877,;SNORA72,downstream_gene_variant,,ENST00000365028,;DEGS1,upstream_gene_variant,,ENST00000465848,;	87-89	38	63	SUCCESS
EXO1	9156	.	GRCh37	1	242048690	242048690	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	56	79	0	ENST00000348581.5:c.2286A>C	p.Arg762Ser	p.R762S	ENST00000348581	NM_003686.4	762	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS1620.1	2286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGAGCCAG	NONE	.	.	hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	deleterious(0)	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Arg762Ser,ENST00000348581,;EXO1,missense_variant,p.Arg762Ser,ENST00000518483,;EXO1,missense_variant,p.Arg127Ser,ENST00000521202,;EXO1,missense_variant,p.Arg762Ser,ENST00000366548,;EXO1,non_coding_transcript_exon_variant,,ENST00000518741,;	2879	79	121	SUCCESS
OR2T12	127064	.	GRCh37	1	248458206	248458206	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	266	177	289	0	ENST00000317996.1:c.675C>T	p.Leu225=	p.L225=	ENST00000317996	NM_001004692.1	225	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31110.1	675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATGAGCAG	BUFFER|p.R227H|c.680G>A|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,synonymous_variant,p.%3D,ENST00000317996,;	675	289	444	SUCCESS
IL23R	149233	.	GRCh37	1	67724414	67724414	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	74	242	0	ENST00000347310.5:c.1493T>G	p.Leu498Arg	p.L498R	ENST00000347310	NM_144701.2	498	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS637.1	1493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCTCAGCA	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF88	.	.	ENSP00000321345	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000347310	Transcript	.	.	ENSG00000162594	19100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0.02)	.	IL23R_HUMAN	IL23R	HGNC	D9N2T9_HUMAN,B6HY80_HUMAN	.	UPI000004CACD	SNV	IL23R,missense_variant,p.Leu260Arg,ENST00000425614,;IL23R,missense_variant,p.Leu498Arg,ENST00000347310,;IL23R,missense_variant,p.Leu243Arg,ENST00000395227,;IL23R,3_prime_UTR_variant,,ENST00000371002,;IL23R,non_coding_transcript_exon_variant,,ENST00000473881,;	1664	242	161	SUCCESS
ELTD1	0	.	GRCh37	1	79472325	79472325	+	synonymous_variant	Silent	SNP	C	C	A	rs779693719	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	70	123	0	ENST00000370742.3:c.15G>T	p.Pro5=	p.P5=	ENST00000370742	NM_022159.3	5	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS41352.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGGGAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000359778	.	1/15	.	.	.	.	.	.	.	.	rs779693719	1/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,synonymous_variant,p.%3D,ENST00000370742,;	79	123	159	SUCCESS
ANKEF1	63926	.	GRCh37	20	10030419	10030424	+	inframe_deletion	In_Frame_Del	DEL	ATTTAA	ATTTAA	-	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	ATTTAA	ATTTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	122	0	ENST00000378380.3:c.1203_1208del	p.Leu402_Asn403del	p.L402_N403del	ENST00000378380	NM_198798.1	401	tATTTAAac/tac	0	.	.	.	.	.	-	YLN/Y	protein_coding	YES	CCDS13108.1	1202-1207	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGATATTTAAACAAG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1	.	.	ENSP00000367631	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000378380	Transcript	.	.	ENSG00000132623	15803	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANKE1_HUMAN	ANKEF1	HGNC	.	.	UPI0000125B51	deletion	ANKEF1,inframe_deletion,p.Leu402_Asn403del,ENST00000378380,;ANKEF1,inframe_deletion,p.Leu402_Asn403del,ENST00000378392,;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,non_coding_transcript_exon_variant,,ENST00000488991,;	1531-1536	122	72	SUCCESS
CST9	128822	.	GRCh37	20	23584366	23584366	+	synonymous_variant	Silent	SNP	T	T	A	rs1600346919	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	36	0	ENST00000376971.3:c.261A>T	p.Arg87=	p.R87=	ENST00000376971	NM_001008693.2	87	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33450.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTCGCCA	NONE	.	.	Superfamily_domains:SSF54403,Pfam_domain:PF00031,Gene3D:3.10.450.10,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF47	.	.	ENSP00000366170	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376971	Transcript	.	.	ENSG00000173335	13261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9_HUMAN	CST9	HGNC	.	.	UPI000013ED7B	SNV	CST9,synonymous_variant,p.%3D,ENST00000376971,;	273	36	31	SUCCESS
UBOX5	22888	.	GRCh37	20	3102887	3102887	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	84	0	ENST00000217173.2:c.398A>G	p.His133Arg	p.H133R	ENST00000217173	NM_001267584.1	133	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS13046.1	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTGGCTA	NONE	.	.	hmmpanther:PTHR13492:SF1,hmmpanther:PTHR13492	.	.	ENSP00000217173	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000217173	Transcript	.	.	ENSG00000185019	17777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	tolerated(0.11)	.	RNF37_HUMAN	UBOX5	HGNC	A2A2Q6_HUMAN	.	UPI0000137935	SNV	UBOX5,missense_variant,p.His133Arg,ENST00000217173,;UBOX5,missense_variant,p.His133Arg,ENST00000348031,;UBOX5,downstream_gene_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;	870	84	42	SUCCESS
AAR2	25980	.	GRCh37	20	34832689	34832689	+	synonymous_variant	Silent	SNP	G	G	T	rs1274453020	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	118	124	0	ENST00000320849.4:c.828G>T	p.Arg276=	p.R276=	ENST00000320849	NM_001271874.1	276	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13273.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGGCTCCT	NONE	.	.	hmmpanther:PTHR12689,Pfam_domain:PF05282	.	.	ENSP00000363043	.	3/4	.	.	.	.	.	.	.	.	COSM3939321	3/4	PASS	ENST00000373932	Transcript	.	.	ENSG00000131043	15886	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	AAR2_HUMAN	AAR2	HGNC	.	.	UPI00001285C6	SNV	AAR2,synonymous_variant,p.%3D,ENST00000320849,;AAR2,synonymous_variant,p.%3D,ENST00000373932,;AAR2,synonymous_variant,p.%3D,ENST00000397286,;	1174	124	170	SUCCESS
CHD6	84181	.	GRCh37	20	40049157	40049157	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760610864	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	31	0	ENST00000373233.3:c.6118C>T	p.His2040Tyr	p.H2040Y	ENST00000373233	NM_032221.4	2040	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS13317.1	6118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATGGCAGT	NONE	.	.	.	.	.	ENSP00000362330	.	31/37	.	.	.	.	.	.	.	.	rs760610864	31/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated_low_confidence(0.08)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.His2040Tyr,ENST00000373233,;	6296	31	36	SUCCESS
DYRK1A	1859	.	GRCh37	21	38865317	38865317	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	64	0	ENST00000398960.2:c.952-2A>T		p.X318_splice	ENST00000398960	NM_001396.3	318		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42925.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAGATAT	NONE	.	.	.	.	.	ENSP00000381932	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,splice_acceptor_variant,,ENST00000451934,;DYRK1A,splice_acceptor_variant,,ENST00000339659,;DYRK1A,splice_acceptor_variant,,ENST00000455387,;DYRK1A,splice_acceptor_variant,,ENST00000398956,;DYRK1A,splice_acceptor_variant,,ENST00000398960,;DYRK1A,splice_acceptor_variant,,ENST00000338785,;DYRK1A,splice_acceptor_variant,,ENST00000321219,;	.	64	60	SUCCESS
PPM1F	9647	.	GRCh37	22	22277762	22277762	+	synonymous_variant	Silent	SNP	C	C	T	rs1444039032	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	47	97	0	ENST00000263212.5:c.1068G>A	p.Leu356=	p.L356=	ENST00000263212	NM_014634.3	356	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13796.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGCAGCAG	NONE	.	.	hmmpanther:PTHR13832:SF233,hmmpanther:PTHR13832,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00331,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000263212	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000263212	Transcript	.	.	ENSG00000100034	19388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPM1F_HUMAN	PPM1F	HGNC	Q6IPC0_HUMAN,Q0VGL7_HUMAN,C9J2F3_HUMAN,B5MCT7_HUMAN,A0M8Q2_HUMAN	.	UPI000012A61C	SNV	PPM1F,synonymous_variant,p.%3D,ENST00000407142,;PPM1F,synonymous_variant,p.%3D,ENST00000263212,;PPM1F,synonymous_variant,p.%3D,ENST00000538191,;PPM1F,downstream_gene_variant,,ENST00000397495,;PPM1F,non_coding_transcript_exon_variant,,ENST00000496143,;PPM1F,downstream_gene_variant,,ENST00000484588,;	1174	97	123	SUCCESS
LRP1B	53353	.	GRCh37	2	141665624	141665624	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	91	142	0	ENST00000389484.3:c.3342G>T	p.Trp1114Cys	p.W1114C	ENST00000389484	NM_018557.2	1114	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS2182.1	3342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCCATGC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:1n7dA02,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000374135	.	22/91	.	.	.	.	.	.	.	.	COSM131498	22/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.99)	.	.	1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Trp1114Cys,ENST00000389484,;LRP1B,missense_variant,p.Trp259Cys,ENST00000434794,;	4314	142	171	SUCCESS
TTN	7273	.	GRCh37	2	179496878	179496878	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	29	60	0	ENST00000591111.1:c.38820G>A	p.Val12940=	p.V12940=	ENST00000591111		12940	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS59435.1	43743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCACAGT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	236/363	.	.	.	.	.	.	.	.	.	236/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;	43968	60	56	SUCCESS
ITGA4	3676	.	GRCh37	2	182323028	182323028	+	synonymous_variant	Silent	SNP	C	C	T	rs772834562	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	122	0	ENST00000397033.2:c.303C>T	p.Cys101=	p.C101=	ENST00000397033	NM_000885.4	101	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS42788.1	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGCGAACA	NONE	byFrequency	.	hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000380227	.	2/28	.	.	.	.	.	.	.	.	rs772834562,COSM4089396	2/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,synonymous_variant,p.%3D,ENST00000339307,;ITGA4,synonymous_variant,p.%3D,ENST00000233573,;ITGA4,synonymous_variant,p.%3D,ENST00000397033,;ITGA4,non_coding_transcript_exon_variant,,ENST00000478440,;ITGA4,non_coding_transcript_exon_variant,,ENST00000465522,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476089,;ITGA4,non_coding_transcript_exon_variant,,ENST00000484404,;	733	122	101	SUCCESS
DNMT3A	1788	.	GRCh37	2	25467466	25467466	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	68	0	ENST00000264709.3:c.1610G>T	p.Cys537Phe	p.C537F	ENST00000264709	NM_175629.2	537	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS33157.1	1610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCAGTAG	NONE	.	.	PROSITE_profiles:PS51533,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068	.	.	ENSP00000264709	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,missense_variant,p.Cys537Phe,ENST00000321117,;DNMT3A,missense_variant,p.Cys314Phe,ENST00000402667,;DNMT3A,missense_variant,p.Cys348Phe,ENST00000380746,;DNMT3A,missense_variant,p.Cys537Phe,ENST00000264709,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000470983,;DNMT3A,downstream_gene_variant,,ENST00000496570,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,missense_variant,p.Cys537Phe,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000474807,;DNMT3A,downstream_gene_variant,,ENST00000484184,;DNMT3A,upstream_gene_variant,,ENST00000466601,;	1948	68	51	SUCCESS
DNMT3A	1788	.	GRCh37	2	25467523	25467523	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs767136883	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	18	52	0	ENST00000264709.3:c.1555-2A>G		p.X519_splice	ENST00000264709	NM_175629.2	519		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33157.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTAGACA	NONE	.	.	.	.	.	ENSP00000264709	.	.	.	.	.	.	.	.	.	.	rs767136883	.	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	HIGH	13/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,splice_acceptor_variant,,ENST00000321117,;DNMT3A,splice_acceptor_variant,,ENST00000402667,;DNMT3A,splice_acceptor_variant,,ENST00000380746,;DNMT3A,splice_acceptor_variant,,ENST00000264709,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000470983,;DNMT3A,downstream_gene_variant,,ENST00000496570,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,splice_acceptor_variant,,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000474807,;DNMT3A,downstream_gene_variant,,ENST00000484184,;DNMT3A,upstream_gene_variant,,ENST00000466601,;	.	52	30	SUCCESS
DQX1	165545	.	GRCh37	2	74751076	74751076	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	96	0	ENST00000393951.2:c.790G>A	p.Val264Met	p.V264M	ENST00000393951		264	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS1949.2	790	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGCACATCTC	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR18934:SF108,PROSITE_profiles:PS51194,hmmpanther:PTHR18934	.	.	ENSP00000384621	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000404568	Transcript	.	.	ENSG00000144045	20410	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.591)	.	deleterious(0.04)	.	DQX1_HUMAN	DQX1	HGNC	C9J0W1_HUMAN	.	UPI0000208758	SNV	DQX1,missense_variant,p.Val264Met,ENST00000404568,;DQX1,missense_variant,p.Val264Met,ENST00000393951,;AUP1,downstream_gene_variant,,ENST00000377526,;DQX1,downstream_gene_variant,,ENST00000451518,;DQX1,non_coding_transcript_exon_variant,,ENST00000495597,;DQX1,downstream_gene_variant,,ENST00000498552,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;AUP1,downstream_gene_variant,,ENST00000463900,;AUP1,downstream_gene_variant,,ENST00000486234,;DQX1,upstream_gene_variant,,ENST00000483555,;AUP1,downstream_gene_variant,,ENST00000462297,;DQX1,upstream_gene_variant,,ENST00000418139,;AUP1,downstream_gene_variant,,ENST00000464887,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000472800,;	1010	96	64	SUCCESS
HTRA2	27429	.	GRCh37	2	74757927	74757927	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	57	0	ENST00000258080.3:c.690A>G	p.Ala230=	p.A230=	ENST00000258080	NM_013247.4	230	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS1951.1	690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCAACGCT	NONE	.	.	Prints_domain:PR00834,Superfamily_domains:SSF50494,Gene3D:2.40.10.10,Pfam_domain:PF13365,hmmpanther:PTHR22939:SF69,hmmpanther:PTHR22939	.	.	ENSP00000258080	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000258080	Transcript	.	.	ENSG00000115317	14348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HTRA2_HUMAN	HTRA2	HGNC	.	.	UPI000012CB84	SNV	HTRA2,synonymous_variant,p.%3D,ENST00000352222,;HTRA2,synonymous_variant,p.%3D,ENST00000258080,;HTRA2,synonymous_variant,p.%3D,ENST00000437202,;LOXL3,downstream_gene_variant,,ENST00000420535,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;LOXL3,downstream_gene_variant,,ENST00000409986,;LOXL3,downstream_gene_variant,,ENST00000264094,;LOXL3,downstream_gene_variant,,ENST00000409249,;AUP1,upstream_gene_variant,,ENST00000377526,;LOXL3,downstream_gene_variant,,ENST00000409549,;DQX1,upstream_gene_variant,,ENST00000451518,;LOXL3,downstream_gene_variant,,ENST00000393937,;HTRA2,non_coding_transcript_exon_variant,,ENST00000462909,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484881,;HTRA2,non_coding_transcript_exon_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000498552,;LOXL3,downstream_gene_variant,,ENST00000481835,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;HTRA2,non_coding_transcript_exon_variant,,ENST00000465521,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482205,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000486234,;DQX1,upstream_gene_variant,,ENST00000473508,;LOXL3,downstream_gene_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000462297,;AUP1,upstream_gene_variant,,ENST00000464887,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000472800,;	1320	57	43	SUCCESS
POLR1A	25885	.	GRCh37	2	86265979	86265979	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	83	0	ENST00000263857.6:c.3878T>G	p.Val1293Gly	p.V1293G	ENST00000263857		1293	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS42706.1	3878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACACCTGG	NONE	.	.	hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484	.	.	ENSP00000263857	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000263857	Transcript	.	.	ENSG00000068654	17264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RPA1_HUMAN	POLR1A	HGNC	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN	.	UPI0000D7DB86	SNV	POLR1A,missense_variant,p.Val1293Gly,ENST00000409681,;POLR1A,missense_variant,p.Val1293Gly,ENST00000263857,;POLR1A,non_coding_transcript_exon_variant,,ENST00000492034,;POLR1A,downstream_gene_variant,,ENST00000462078,;POLR1A,upstream_gene_variant,,ENST00000496892,;	4257	84	52	SUCCESS
ACTR1B	10120	.	GRCh37	2	98275016	98275016	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	84	0	ENST00000289228.5:c.531T>G	p.Pro177=	p.P177=	ENST00000289228	NM_005735.3	177	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS2033.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGAGGCAT	NONE	.	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937:SF195,hmmpanther:PTHR11937	.	.	ENSP00000289228	.	6/11	.	.	.	.	.	.	.	.	COSM1410129	6/11	PASS	ENST00000289228	Transcript	.	.	ENSG00000115073	168	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ACTY_HUMAN	ACTR1B	HGNC	.	.	UPI0000049C38	SNV	ACTR1B,synonymous_variant,p.%3D,ENST00000289228,;ACTR1B,non_coding_transcript_exon_variant,,ENST00000451664,;ACTR1B,downstream_gene_variant,,ENST00000460427,;	748	84	62	SUCCESS
C3orf17	0	.	GRCh37	3	112732231	112732231	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764757072	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	296	481	0	ENST00000314400.5:c.361A>G	p.Thr121Ala	p.T121A	ENST00000314400	NM_015412.3	121	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33824.1	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTAGTTA	NONE	byFrequency	.	Pfam_domain:PF14780	.	.	ENSP00000320251	.	4/9	.	.	.	.	.	.	.	.	rs764757072	4/9	PASS	ENST00000314400	Transcript	.	.	ENSG00000163608	24496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.82)	.	CC017_HUMAN	C3orf17	HGNC	C9J9E3_HUMAN,A8MVI8_HUMAN	.	UPI0000367197	SNV	C3orf17,missense_variant,p.Thr46Ala,ENST00000472166,;C3orf17,missense_variant,p.Thr121Ala,ENST00000314400,;C3orf17,5_prime_UTR_variant,,ENST00000393857,;C3orf17,intron_variant,,ENST00000383675,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494575,;C3orf17,upstream_gene_variant,,ENST00000472762,;C3orf17,3_prime_UTR_variant,,ENST00000462295,;C3orf17,3_prime_UTR_variant,,ENST00000496340,;C3orf17,3_prime_UTR_variant,,ENST00000472637,;C3orf17,3_prime_UTR_variant,,ENST00000460410,;C3orf17,3_prime_UTR_variant,,ENST00000473284,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494891,;C3orf17,intron_variant,,ENST00000461381,;C3orf17,intron_variant,,ENST00000496206,;GTPBP8,intron_variant,,ENST00000485330,;C3orf17,intron_variant,,ENST00000469809,;C3orf17,intron_variant,,ENST00000491121,;C3orf17,intron_variant,,ENST00000494164,;C3orf17,intron_variant,,ENST00000472705,;C3orf17,intron_variant,,ENST00000469169,;C3orf17,intron_variant,,ENST00000470663,;C3orf17,intron_variant,,ENST00000489848,;C3orf17,upstream_gene_variant,,ENST00000464816,;C3orf17,upstream_gene_variant,,ENST00000482229,;C3orf17,upstream_gene_variant,,ENST00000474311,;	553	481	473	SUCCESS
UMPS	7372	.	GRCh37	3	124449262	124449262	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	32	0	ENST00000232607.2:c.-57G>A		p.*19*	ENST00000232607	NM_000373.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3029.1	.	MUTECT|MUSE	.	TCATCGGGGCG	NONE	.	.	.	.	.	ENSP00000232607	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000232607	Transcript	.	.	ENSG00000114491	12563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UMPS_HUMAN	UMPS	HGNC	B5LY64_HUMAN,A8K5J1_HUMAN	.	UPI0000001223	SNV	UMPS,5_prime_UTR_variant,,ENST00000232607,;UMPS,upstream_gene_variant,,ENST00000536109,;UMPS,upstream_gene_variant,,ENST00000538242,;KALRN,downstream_gene_variant,,ENST00000291478,;UMPS,upstream_gene_variant,,ENST00000413078,;MIR544B,upstream_gene_variant,,ENST00000582372,;RP11-71H17.7,downstream_gene_variant,,ENST00000568966,;UMPS,upstream_gene_variant,,ENST00000474588,;UMPS,upstream_gene_variant,,ENST00000462091,;UMPS,upstream_gene_variant,,ENST00000479719,;UMPS,upstream_gene_variant,,ENST00000497791,;UMPS,upstream_gene_variant,,ENST00000467167,;UMPS,upstream_gene_variant,,ENST00000460034,;RP11-71H17.1,downstream_gene_variant,,ENST00000475510,;	50	32	22	SUCCESS
MECOM	2122	.	GRCh37	3	168806927	168806927	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779967808	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	66	104	0	ENST00000468789.1:c.2882A>G	p.His961Arg	p.H961R	ENST00000468789	NM_001105078.3	961	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS54670.1	3077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATATGATCT	NONE	byFrequency	.	hmmpanther:PTHR24393	.	.	ENSP00000264674	.	16/17	.	.	.	.	.	.	.	.	rs779967808	16/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.15)	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,missense_variant,p.His962Arg,ENST00000472280,;MECOM,missense_variant,p.His952Arg,ENST00000460814,;MECOM,missense_variant,p.His952Arg,ENST00000464456,;MECOM,missense_variant,p.His1140Arg,ENST00000494292,;MECOM,missense_variant,p.His961Arg,ENST00000468789,;MECOM,missense_variant,p.His962Arg,ENST00000433243,;MECOM,missense_variant,p.His961Arg,ENST00000392736,;MECOM,missense_variant,p.His1026Arg,ENST00000264674,;	3216	104	110	SUCCESS
NCEH1	57552	.	GRCh37	3	172351796	172351796	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	38	114	0	ENST00000538775.1:c.816A>G	p.Pro272=	p.P272=	ENST00000538775	NM_001146276.1	272	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS54682.1	816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGATGGTGT	NONE	.	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF037251,Pfam_domain:PF07859,Gene3D:3.40.50.1820,hmmpanther:PTHR23024:SF108,hmmpanther:PTHR23024	.	.	ENSP00000442464	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538775	Transcript	.	.	ENSG00000144959	29260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NCEH1	HGNC	F5H7K4_HUMAN	.	UPI000199A4B7	SNV	NCEH1,synonymous_variant,p.%3D,ENST00000543711,;NCEH1,synonymous_variant,p.%3D,ENST00000538775,;NCEH1,synonymous_variant,p.%3D,ENST00000424772,;NCEH1,synonymous_variant,p.%3D,ENST00000475381,;NCEH1,synonymous_variant,p.%3D,ENST00000273512,;NCEH1,3_prime_UTR_variant,,ENST00000421723,;NCEH1,non_coding_transcript_exon_variant,,ENST00000470419,;	954	114	121	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913396	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	37	173	0	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32V|c.95A>T|41,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.988)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	173	148	SUCCESS
PTPN23	25930	.	GRCh37	3	47449186	47449186	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	51	85	0	ENST00000265562.4:c.1004-1G>T		p.X335_splice	ENST00000265562	NM_015466.2	335		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2754.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGAGCC	NONE	.	.	.	.	.	ENSP00000265562	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265562	Transcript	.	.	ENSG00000076201	14406	.	.	HIGH	12/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN23_HUMAN	PTPN23	HGNC	B4DST5_HUMAN	.	UPI000006EBC4	SNV	PTPN23,splice_acceptor_variant,,ENST00000431726,;PTPN23,splice_acceptor_variant,,ENST00000265562,;PTPN23,downstream_gene_variant,,ENST00000456221,;PTPN23,splice_acceptor_variant,,ENST00000602307,;PTPN23,downstream_gene_variant,,ENST00000477276,;PTPN23,upstream_gene_variant,,ENST00000495653,;	.	85	86	SUCCESS
GMPPB	29925	.	GRCh37	3	49759578	49759578	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1314961622	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	70	0	ENST00000308388.6:c.771C>T		p.X257_splice	ENST00000308388	NM_013334.3	257	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS2802.1	771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGTCCTG	NONE	.	.	Superfamily_domains:SSF51161,Superfamily_domains:SSF53448,Gene3D:2.160.10.10,PROSITE_patterns:PS00101,hmmpanther:PTHR22572:SF75,hmmpanther:PTHR22572	.	.	ENSP00000309092	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000308375	Transcript	.	.	ENSG00000173540	22932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GMPPB_HUMAN	GMPPB	HGNC	.	.	UPI000013ED26	SNV	GMPPB,synonymous_variant,p.%3D,ENST00000308375,;GMPPB,synonymous_variant,p.%3D,ENST00000480687,;GMPPB,synonymous_variant,p.%3D,ENST00000308388,;AMIGO3,splice_region_variant,,ENST00000535833,;RNF123,downstream_gene_variant,,ENST00000327697,;RNF123,downstream_gene_variant,,ENST00000433785,;IP6K1,downstream_gene_variant,,ENST00000460540,;AMIGO3,upstream_gene_variant,,ENST00000320431,;IP6K1,downstream_gene_variant,,ENST00000321599,;IP6K1,downstream_gene_variant,,ENST00000395238,;IP6K1,downstream_gene_variant,,ENST00000468463,;RNF123,downstream_gene_variant,,ENST00000497099,;GMPPB,downstream_gene_variant,,ENST00000481959,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000498376,;RNF123,downstream_gene_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000487805,;RNF123,downstream_gene_variant,,ENST00000457726,;	996	70	61	SUCCESS
SEMA3B	7869	.	GRCh37	3	50313044	50313044	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	G	C	rs782201786	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	162	0	ENST00000456210.1:n.678G>C		p.X226_splice	ENST00000456210		226		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2814.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGGAGGTG	NONE	.	3414	.	.	.	ENSP00000315081	.	.	.	.	.	.	.	.	.	.	rs782201786	.	PASS	ENST00000316436	Transcript	.	.	ENSG00000179564	26781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LSME2_HUMAN	LSMEM2	HGNC	.	.	UPI000006DE81	SNV	LSMEM2,upstream_gene_variant,,ENST00000316436,;SEMA3B,splice_region_variant,,ENST00000418576,;SEMA3B,splice_region_variant,,ENST00000418948,;SEMA3B,splice_region_variant,,ENST00000456560,;SEMA3B,splice_region_variant,,ENST00000414456,;SEMA3B,splice_region_variant,,ENST00000426144,;SEMA3B,splice_region_variant,,ENST00000316347,;SEMA3B,splice_region_variant,,ENST00000456210,;SEMA3B,downstream_gene_variant,,ENST00000433753,;SEMA3B,downstream_gene_variant,,ENST00000419213,;SEMA3B,splice_region_variant,,ENST00000416295,;SEMA3B,splice_region_variant,,ENST00000454939,;SEMA3B,splice_region_variant,,ENST00000419007,;SEMA3B,splice_region_variant,,ENST00000441915,;SEMA3B,downstream_gene_variant,,ENST00000454314,;SEMA3B,downstream_gene_variant,,ENST00000434030,;SEMA3B,downstream_gene_variant,,ENST00000439487,;	.	162	129	SUCCESS
ARHGEF3	50650	.	GRCh37	3	56809247	56809247	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	25	0	ENST00000296315.3:c.97-1403G>C		p.*33*	ENST00000296315	NM_019555.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46854.1	.	MUTECT|MUSE	.	CATCCCCGTTC	NONE	.	.	.	.	.	ENSP00000341071	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338458	Transcript	.	.	ENSG00000163947	683	.	.	MODIFIER	4/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHG3_HUMAN	ARHGEF3	HGNC	C9J609_HUMAN,C9J5K8_HUMAN	.	UPI00001B3D98	SNV	ARHGEF3,5_prime_UTR_variant,,ENST00000497267,;ARHGEF3,5_prime_UTR_variant,,ENST00000413728,;ARHGEF3,intron_variant,,ENST00000296315,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000495373,;ARHGEF3,intron_variant,,ENST00000496106,;ARHGEF3,intron_variant,,ENST00000473779,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000481422,;ARHGEF3,intron_variant,,ENST00000498517,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000465659,;ARHGEF3,intron_variant,,ENST00000486829,;ARHGEF3,intron_variant,,ENST00000477833,;	.	25	16	SUCCESS
APPL1	26060	.	GRCh37	3	57271521	57271521	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1316373298	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	297	134	504	0	ENST00000288266.3:c.155A>G	p.Asn52Ser	p.N52S	ENST00000288266	NM_012096.2	52	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS2882.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGAATGAAT	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF235,Superfamily_domains:SSF103657	.	.	ENSP00000288266	.	3/22	.	.	.	.	.	.	.	.	COSM3596676	3/22	PASS	ENST00000288266	Transcript	.	.	ENSG00000157500	24035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.85)	.	tolerated(0.13)	1	DP13A_HUMAN	APPL1	HGNC	.	.	UPI00000712DA	SNV	APPL1,missense_variant,p.Asn52Ser,ENST00000495803,;APPL1,missense_variant,p.Asn52Ser,ENST00000288266,;APPL1,missense_variant,p.Asn35Ser,ENST00000444459,;APPL1,splice_region_variant,,ENST00000482800,;APPL1,splice_region_variant,,ENST00000468342,;	302	504	431	SUCCESS
DKK2	27123	.	GRCh37	4	107845304	107845304	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	192	0	ENST00000285311.3:c.587C>T	p.Ala196Val	p.A196V	ENST00000285311	NM_014421.2	196	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3675.1	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGAGCACAG	NONE	.	.	Gene3D:2.10.80.10	.	.	ENSP00000285311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000285311	Transcript	.	.	ENSG00000155011	2892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	DKK2_HUMAN	DKK2	HGNC	D6RGF1_HUMAN	.	UPI0000048EF2	SNV	DKK2,missense_variant,p.Ala96Val,ENST00000513208,;DKK2,missense_variant,p.Ala196Val,ENST00000285311,;DKK2,missense_variant,p.Ala150Val,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;	1293	192	116	SUCCESS
QRFPR	84109	.	GRCh37	4	122251638	122251638	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	107	0	ENST00000394427.2:c.838G>T	p.Ala280Ser	p.A280S	ENST00000394427	NM_198179.2	280	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3719.1	838	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCCACCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000377948	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.09)	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,missense_variant,p.Ala280Ser,ENST00000394427,;QRFPR,missense_variant,p.Gly242Val,ENST00000334383,;Y_RNA,upstream_gene_variant,,ENST00000384419,;QRFPR,3_prime_UTR_variant,,ENST00000507331,;	1250	107	57	SUCCESS
SH3RF1	57630	.	GRCh37	4	170077719	170077719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	130	0	ENST00000284637.9:c.505G>A	p.Glu169Lys	p.E169K	ENST00000284637	NM_020870.3	169	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34099.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCATCCA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661:SF8,hmmpanther:PTHR10661,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00499	.	.	ENSP00000284637	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000284637	Transcript	.	.	ENSG00000154447	17650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	deleterious(0)	.	SH3R1_HUMAN	SH3RF1	HGNC	D6RHX5_HUMAN,D6RAL3_HUMAN	.	UPI0000160033	SNV	SH3RF1,missense_variant,p.Glu169Lys,ENST00000284637,;SH3RF1,non_coding_transcript_exon_variant,,ENST00000508685,;SH3RF1,missense_variant,p.Glu31Lys,ENST00000511421,;	847	131	86	SUCCESS
FAM184B	27146	.	GRCh37	4	17660125	17660125	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	32	0	ENST00000265018.3:c.1885G>A	p.Ala629Thr	p.A629T	ENST00000265018	NM_015688.1	629	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47033.1	1885	RADIA|MUSE|VARSCANS	.	GAGTGCCTGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870	.	.	ENSP00000265018	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000265018	Transcript	.	.	ENSG00000047662	29235	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.076)	.	tolerated(0.13)	.	F184B_HUMAN	FAM184B	HGNC	.	.	UPI000020BD7C	SNV	FAM184B,missense_variant,p.Ala629Thr,ENST00000265018,;	2098	32	23	SUCCESS
PCDH7	5099	.	GRCh37	4	30724307	30724307	+	synonymous_variant	Silent	SNP	G	G	T	rs745310528	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	52	174	0	ENST00000361762.2:c.1263G>T	p.Gly421=	p.G421=	ENST00000361762	NM_002589.2	421	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS54753.1	1263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGCGCAT	NONE	.	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	rs745310528	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000511884,;PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,synonymous_variant,p.%3D,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000507864,;	1263	174	135	SUCCESS
PDHA2	5161	.	GRCh37	4	96762058	96762058	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762066606	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	63	0	ENST00000295266.4:c.757G>A	p.Asp253Asn	p.D253N	ENST00000295266	NM_005390.4	253	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS3644.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGATGGA	NONE	byFrequency	.	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	rs762066606,COSM3940988	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.484)	.	tolerated(0.51)	0,1	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,missense_variant,p.Asp253Asn,ENST00000295266,;	820	63	36	SUCCESS
MEGF10	84466	.	GRCh37	5	126774132	126774132	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	69	0	ENST00000274473.6:c.2106A>C		p.X702_splice	ENST00000274473	NM_032446.2	702	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4142.1	2106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCATGTCC	NONE	.	.	hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,PROSITE_patterns:PS01186,Gene3D:2gy5A03	.	.	ENSP00000274473	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000274473	Transcript	1	.	ENSG00000145794	29634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEG10_HUMAN	MEGF10	HGNC	.	.	UPI000006F868	SNV	MEGF10,synonymous_variant,p.%3D,ENST00000274473,;MEGF10,synonymous_variant,p.%3D,ENST00000503335,;MEGF10,splice_region_variant,,ENST00000506709,;	2373	69	86	SUCCESS
PCDHB2	56133	.	GRCh37	5	140476384	140476384	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	16	0	ENST00000194155.4:c.2010G>T	p.Gln670His	p.Q670H	ENST00000194155	NM_018936.2	670	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS4244.1	2010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGCCCTA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF77,hmmpanther:PTHR24028,SMART_domains:SM00112	.	.	ENSP00000194155	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000194155	Transcript	.	.	ENSG00000112852	8687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious_low_confidence(0)	.	PCDB2_HUMAN	PCDHB2	HGNC	.	.	UPI00001273DC	SNV	PCDHB2,missense_variant,p.Gln670His,ENST00000194155,;PCDHB3,upstream_gene_variant,,ENST00000231130,;AC005754.7,downstream_gene_variant,,ENST00000607216,;	2158	16	20	SUCCESS
PCDHB2	56133	.	GRCh37	5	140476385	140476385	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	15	0	ENST00000194155.4:c.2011C>G	p.Pro671Ala	p.P671A	ENST00000194155	NM_018936.2	671	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS4244.1	2011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCCTAC	BUFFER|p.L674L|c.2022G>T|5	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF77,hmmpanther:PTHR24028,SMART_domains:SM00112	.	.	ENSP00000194155	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000194155	Transcript	.	.	ENSG00000112852	8687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious_low_confidence(0)	.	PCDB2_HUMAN	PCDHB2	HGNC	.	.	UPI00001273DC	SNV	PCDHB2,missense_variant,p.Pro671Ala,ENST00000194155,;PCDHB3,upstream_gene_variant,,ENST00000231130,;AC005754.7,downstream_gene_variant,,ENST00000607216,;	2159	15	20	SUCCESS
PCDHB10	56126	.	GRCh37	5	140572026	140572026	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	63	86	0	ENST00000239446.4:c.-100C>G		p.*34*	ENST00000239446	NM_018930.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4252.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAGACCCCTG	NONE	.	.	.	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,5_prime_UTR_variant,,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	85	86	113	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140798888	140798888	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	82	0	ENST00000398594.2:c.1462T>G	p.Ser488Ala	p.S488A	ENST00000398594	NM_018927.3	488	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS47293.1	1462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCTCCTAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.547)	.	deleterious(0.01)	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,missense_variant,p.Ser488Ala,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1462	82	100	SUCCESS
DOCK2	1794	.	GRCh37	5	169423087	169423087	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	78	0	ENST00000256935.8:c.2994-3C>A		p.X998_splice	ENST00000256935	NM_004946.2	998		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4371.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCAGGGT	NONE	.	.	.	.	.	ENSP00000256935	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	LOW	29/51	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,splice_region_variant,,ENST00000540750,;DOCK2,splice_region_variant,,ENST00000256935,;DOCK2,splice_region_variant,,ENST00000520908,;DOCK2,splice_region_variant,,ENST00000523351,;DOCK2,splice_region_variant,,ENST00000522994,;DOCK2,splice_region_variant,,ENST00000524185,;	.	78	73	SUCCESS
TBC1D32	221322	.	GRCh37	6	121434235	121434235	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	75	171	0	ENST00000398212.2:c.3142C>T	p.Gln1048Ter	p.Q1048*	ENST00000398212	NM_152730.4	1048	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS43501.1	3142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGCTGTT	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	28/32	.	.	.	.	.	.	.	.	.	28/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,stop_gained,p.Gln1048Ter,ENST00000398212,;TBC1D32,stop_gained,p.Gln1089Ter,ENST00000275159,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000368464,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,3_prime_UTR_variant,,ENST00000509492,;	3192	171	83	SUCCESS
L3MBTL3	84456	.	GRCh37	6	130374111	130374111	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	59	78	0	ENST00000361794.2:c.557A>C	p.Asp186Ala	p.D186A	ENST00000361794	NM_032438.2	186	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS34537.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGATGGAG	NONE	.	.	.	.	.	ENSP00000431962	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000529410	Transcript	.	.	ENSG00000198945	23035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.17)	.	LMBL3_HUMAN	L3MBTL3	HGNC	E9PLL7_HUMAN	.	UPI00001C1E3E	SNV	L3MBTL3,missense_variant,p.Asp186Ala,ENST00000361794,;L3MBTL3,missense_variant,p.Asp161Ala,ENST00000368139,;L3MBTL3,missense_variant,p.Asp161Ala,ENST00000533560,;L3MBTL3,missense_variant,p.Asp186Ala,ENST00000368136,;L3MBTL3,missense_variant,p.Asp161Ala,ENST00000526019,;L3MBTL3,missense_variant,p.Asp186Ala,ENST00000528385,;L3MBTL3,missense_variant,p.Asp186Ala,ENST00000529410,;L3MBTL3,downstream_gene_variant,,ENST00000526087,;L3MBTL3,upstream_gene_variant,,ENST00000531313,;	1036	78	68	SUCCESS
UST	10090	.	GRCh37	6	149285691	149285691	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746546399	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	43	70	0	ENST00000367463.4:c.673C>A	p.Arg225Ser	p.R225S	ENST00000367463	NM_005715.2	225	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS5213.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGCTAC	NONE	byFrequency	.	hmmpanther:PTHR12129:SF11,hmmpanther:PTHR12129,Pfam_domain:PF03567,Superfamily_domains:SSF52540	.	.	ENSP00000356433	.	5/8	.	.	.	.	.	.	.	.	rs746546399,COSM1441099	5/8	PASS	ENST00000367463	Transcript	.	.	ENSG00000111962	17223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.66)	.	deleterious(0.03)	0,1	UST_HUMAN	UST	HGNC	.	.	UPI000006EF6A	SNV	UST,missense_variant,p.Arg225Ser,ENST00000367463,;RP11-162J8.2,splice_region_variant,,ENST00000413845,;UST,non_coding_transcript_exon_variant,,ENST00000473631,;	776	70	48	SUCCESS
ZNF184	7738	.	GRCh37	6	27419760	27419760	+	synonymous_variant	Silent	SNP	T	T	C	rs371959671	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	47	0	ENST00000211936.6:c.1578A>G	p.Gln526=	p.Q526=	ENST00000211936	NM_007149.2	526	caA/caG	0	C:0	.	.	.	.	C	Q	protein_coding	YES	CCDS4624.1	1578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTTGAGT	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF108,hmmpanther:PTHR24375,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	C:0.0002	ENSP00000211936	.	6/6	.	.	.	.	.	.	.	.	rs371959671	6/6	PASS	ENST00000211936	Transcript	.	.	ENSG00000096654	12975	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN184_HUMAN	ZNF184	HGNC	.	.	UPI000013C311	SNV	ZNF184,synonymous_variant,p.%3D,ENST00000211936,;ZNF184,synonymous_variant,p.%3D,ENST00000377419,;	1863	47	102	SUCCESS
GPX5	2880	.	GRCh37	6	28497290	28497290	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758743191	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	9	102	1	ENST00000412168.2:c.150G>C	p.Lys50Asn	p.K50N	ENST00000412168	NM_001509.2	50	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS4652.1	150	MUTECT|MUSE	.	AATAAGAATGA	BUFFER|p.A47T|c.139G>A|8	.	.	PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF9,Pfam_domain:PF00255,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Superfamily_domains:SSF52833	.	.	ENSP00000392398	.	2/5	.	.	.	.	.	.	.	.	rs758743191	2/5	PASS	ENST00000412168	Transcript	.	.	ENSG00000224586	4557	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	deleterious(0)	.	GPX5_HUMAN	GPX5	HGNC	.	.	UPI0000031FD7	SNV	GPX5,missense_variant,p.Lys50Asn,ENST00000469384,;GPX5,missense_variant,p.Lys50Asn,ENST00000412168,;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,non_coding_transcript_exon_variant,,ENST00000483784,;GPX6,upstream_gene_variant,,ENST00000483058,;	239	103	203	SUCCESS
HLA-G	3135	.	GRCh37	6	29797329	29797329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	40	73	0	ENST00000360323.6:c.754G>T	p.Val252Leu	p.V252L	ENST00000360323		252	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS4668.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGTGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF149,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000412927	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000428701	Transcript	.	.	ENSG00000204632	4964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.03)	.	HLAG_HUMAN	HLA-G	HGNC	Q6DU14_HUMAN,M9TK49_HUMAN,Q9UM45_HUMAN,Q9TP14_HUMAN,Q9TP13_HUMAN,Q9TP12_HUMAN,Q9TP11_HUMAN,Q9TP10_HUMAN,Q95356_HUMAN,Q7JFN0_HUMAN,Q6DL89_HUMAN,Q6DL88_HUMAN,Q6DL87_HUMAN,Q6DL86_HUMAN,Q6DL85_HUMAN,Q6B9Y6_HUMAN,Q6B9Y4_HUMAN,Q6B9Y3_HUMAN,Q6B9Y2_HUMAN,Q6B9Y1_HUMAN,Q6B845_HUMAN,Q68YS4_HUMAN,Q68YS3_HUMAN,Q68YS2_HUMAN,Q68YS1_HUMAN,Q68YS0_HUMAN,Q68YR9_HUMAN,Q68YR8_HUMAN,Q30182_HUMAN,O78136_HUMAN,O78135_HUMAN,O78134_HUMAN,O78133_HUMAN,O78131_HUMAN,O19809_HUMAN,O19807_HUMAN,O19806_HUMAN,O19805_HUMAN,O19768_HUMAN,O19767_HUMAN,O19766_HUMAN,O19745_HUMAN,O19684_HUMAN,O19659_HUMAN,O19658_HUMAN,O02928_HUMAN,O02927_HUMAN,O02926_HUMAN,O02923_HUMAN,J3JRT1_HUMAN,C7SJ32_HUMAN,C0JTC7_HUMAN,C0JT30_HUMAN,C0JT28_HUMAN,C0JSV3_HUMAN,C0JSV2_HUMAN,B5LFX9_HUMAN,B1P198_HUMAN,A5HSK0_HUMAN	.	UPI000000166E	SNV	HLA-G,missense_variant,p.Val257Leu,ENST00000376828,;HLA-G,missense_variant,p.Val252Leu,ENST00000360323,;HLA-G,missense_variant,p.Val252Leu,ENST00000428701,;HLA-G,missense_variant,p.Val160Leu,ENST00000376818,;HLA-G,intron_variant,,ENST00000376815,;HLA-G,missense_variant,p.Val160Leu,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,upstream_gene_variant,,ENST00000443049,;	932	73	156	SUCCESS
TUBB	203068	.	GRCh37	6	30691141	30691162	+	frameshift_variant	Frame_Shift_Del	DEL	GGGCCAAAGGCCACTACACAGA	GGGCCAAAGGCCACTACACAGA	-	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	GGGCCAAAGGCCACTACACAGA	GGGCCAAAGGCCACTACACAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	190	71	171	0	ENST00000327892.8:c.306_327del	p.Lys103ProfsTer26	p.K103Pfs*26	ENST00000327892	NM_178014.2	101	tGGGCCAAAGGCCACTACACAGAg/tg	0	.	.	.	.	.	-	WAKGHYTE/X	protein_coding	YES	CCDS4687.1	302-323	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAACTGGGCCAAAGGCCACTACACAGAGGGCG	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF61,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01163,Prints_domain:PR01161,Prints_domain:PR01161	.	.	ENSP00000339001	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000327892	Transcript	.	.	ENSG00000196230	20778	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBB5_HUMAN	TUBB	HGNC	Q9BUU9_HUMAN,Q96B85_HUMAN,Q6P602_HUMAN,Q5SU16_HUMAN,Q5ST81_HUMAN,A4UCU2_HUMAN	.	UPI0000001229	deletion	TUBB,frameshift_variant,p.Lys103ProfsTer105,ENST00000435534,;TUBB,frameshift_variant,p.Lys31ProfsTer26,ENST00000396384,;TUBB,frameshift_variant,p.Lys31ProfsTer26,ENST00000330914,;TUBB,frameshift_variant,p.Lys103ProfsTer26,ENST00000327892,;TUBB,frameshift_variant,p.Lys85ProfsTer26,ENST00000396389,;FLOT1,downstream_gene_variant,,ENST00000376389,;FLOT1,downstream_gene_variant,,ENST00000456573,;XXbac-BPG252P9.9,non_coding_transcript_exon_variant,,ENST00000607476,;FLOT1,downstream_gene_variant,,ENST00000487376,;	608-629	171	261	SUCCESS
VPS52	6293	.	GRCh37	6	33239656	33239656	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	16	0	ENST00000445902.2:c.-204G>T		p.*68*	ENST00000445902	NM_022553.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4770.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGCCCCGG	NONE	.	.	.	.	.	ENSP00000409952	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,5_prime_UTR_variant,,ENST00000445902,;VPS52,intron_variant,,ENST00000436044,;VPS52,upstream_gene_variant,,ENST00000482399,;RPS18,upstream_gene_variant,,ENST00000474973,;RPS18,upstream_gene_variant,,ENST00000439602,;VPS52,non_coding_transcript_exon_variant,,ENST00000464425,;VPS52,intron_variant,,ENST00000478934,;RPS18,upstream_gene_variant,,ENST00000476222,;VPS52,upstream_gene_variant,,ENST00000463486,;RPS18,upstream_gene_variant,,ENST00000472218,;RPS18,upstream_gene_variant,,ENST00000496813,;RPS18,upstream_gene_variant,,ENST00000490191,;RPS18,upstream_gene_variant,,ENST00000479802,;VPS52,upstream_gene_variant,,ENST00000493379,;RPS18,upstream_gene_variant,,ENST00000474626,;VPS52,upstream_gene_variant,,ENST00000495755,;	16	16	46	SUCCESS
KLC4	89953	.	GRCh37	6	43039049	43039049	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	112	97	0	ENST00000347162.5:c.1192G>T	p.Ala398Ser	p.A398S	ENST00000347162	NM_201521.1	398	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4882.1	1246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGCTGAG	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13374,Gene3D:1.25.40.10,PROSITE_patterns:PS01160,hmmpanther:PTHR19959:SF138,hmmpanther:PTHR19959,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000259708	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000259708	Transcript	.	.	ENSG00000137171	21624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	deleterious(0.01)	.	KLC4_HUMAN	KLC4	HGNC	C9K0D5_HUMAN,C9JZE5_HUMAN,C9JXT5_HUMAN,C9JQU1_HUMAN	.	UPI000023C3DA	SNV	KLC4,missense_variant,p.Ala398Ser,ENST00000479388,;KLC4,missense_variant,p.Ala321Ser,ENST00000453940,;KLC4,missense_variant,p.Ala398Ser,ENST00000394056,;KLC4,missense_variant,p.Ala416Ser,ENST00000259708,;KLC4,missense_variant,p.Ala398Ser,ENST00000347162,;KLC4,missense_variant,p.Ala398Ser,ENST00000394058,;PTK7,upstream_gene_variant,,ENST00000230419,;KLC4,downstream_gene_variant,,ENST00000470728,;KLC4,downstream_gene_variant,,ENST00000479632,;KLC4,downstream_gene_variant,,ENST00000458460,;PTK7,upstream_gene_variant,,ENST00000476760,;RP11-387M24.5,downstream_gene_variant,,ENST00000606123,;KLC4,missense_variant,p.Ala107Ser,ENST00000469987,;KLC4,3_prime_UTR_variant,,ENST00000467906,;KLC4,non_coding_transcript_exon_variant,,ENST00000463063,;KLC4,downstream_gene_variant,,ENST00000468114,;KLC4,upstream_gene_variant,,ENST00000486439,;KLC4,upstream_gene_variant,,ENST00000463168,;KLC4,downstream_gene_variant,,ENST00000481499,;KLC4,downstream_gene_variant,,ENST00000472172,;	1599	97	165	SUCCESS
KHDC3L	154288	.	GRCh37	6	74073354	74073354	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs778196357	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	36	0	ENST00000370367.3:c.425A>G	p.Glu142Gly	p.E142G	ENST00000370367	NM_001017361.2	142	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34484.1	425	RADIA|MUSE	.	CCGGGAGGCCG	NONE	byFrequency	.	hmmpanther:PTHR19447:SF5,hmmpanther:PTHR19447	.	.	ENSP00000359392	.	3/3	.	.	.	.	.	.	.	.	rs778196357	3/3	PASS	ENST00000370367	Transcript	.	.	ENSG00000203908	33699	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.363)	.	deleterious(0)	.	KHD3L_HUMAN	KHDC3L	HGNC	.	.	UPI00001D8131	SNV	KHDC3L,missense_variant,p.Glu142Gly,ENST00000370367,;OOEP,downstream_gene_variant,,ENST00000370363,;	478	36	28	SUCCESS
FILIP1	27145	.	GRCh37	6	76024770	76024770	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	38	75	0	ENST00000237172.7:c.778C>T	p.Gln260Ter	p.Q260*	ENST00000237172	NM_015687.2	260	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS4984.1	778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTGTTCAA	NONE	.	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,stop_gained,p.Gln161Ter,ENST00000370020,;FILIP1,stop_gained,p.Gln260Ter,ENST00000393004,;FILIP1,stop_gained,p.Gln260Ter,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	1109	75	43	SUCCESS
PTN	5764	.	GRCh37	7	136936111	136936111	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	32	129	0	ENST00000348225.2:c.317G>A	p.Trp106Ter	p.W106*	ENST00000348225	NM_002825.5	106	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS5844.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGGCC	NONE	.	.	Prints_domain:PR00269,Superfamily_domains:SSF57288,SMART_domains:SM00193,Gene3D:1mkcA00,Pfam_domain:PF01091,PROSITE_patterns:PS00620,hmmpanther:PTHR13850,hmmpanther:PTHR13850:SF1	.	.	ENSP00000341170	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000348225	Transcript	.	.	ENSG00000105894	9630	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN_HUMAN	PTN	HGNC	.	.	UPI000013297B	SNV	PTN,stop_gained,p.Trp106Ter,ENST00000393083,;PTN,stop_gained,p.Trp106Ter,ENST00000348225,;	745	130	111	SUCCESS
NPC1L1	29881	.	GRCh37	7	44573141	44573141	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	100	173	0	ENST00000289547.4:c.2298G>A	p.Met766Ile	p.M766I	ENST00000289547	NM_013389.2	766	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS5491.1	2298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCATGGG	NONE	.	.	Superfamily_domains:SSF82866,Pfam_domain:PF12349,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89,PROSITE_profiles:PS50156	.	.	ENSP00000289547	.	8/20	.	.	.	.	.	.	.	.	COSM1313108	8/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.974)	.	deleterious(0)	1	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,missense_variant,p.Met766Ile,ENST00000546276,;NPC1L1,missense_variant,p.Met766Ile,ENST00000381160,;NPC1L1,missense_variant,p.Met766Ile,ENST00000289547,;NPC1L1,3_prime_UTR_variant,,ENST00000423141,;	2354	173	174	SUCCESS
GNAT3	346562	.	GRCh37	7	80123960	80123960	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	97	280	0	ENST00000398291.3:c.122C>T	p.Ala41Val	p.A41V	ENST00000398291	NM_001102386.1	41	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47625.1	122	RADIA|MUTECT|MUSE	.	CTCCTGCTCCT	NONE	.	.	Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	.	.	ENSP00000381339	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000398291	Transcript	.	.	ENSG00000214415	22800	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.389)	.	deleterious(0)	.	GNAT3_HUMAN	GNAT3	HGNC	.	.	UPI0000198E14	SNV	GNAT3,missense_variant,p.Ala41Val,ENST00000398291,;CD36,intron_variant,,ENST00000435819,;	216	280	300	SUCCESS
CACNA2D1	781	.	GRCh37	7	82072908	82072908	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	24	23	0	ENST00000356253.5:c.-133G>A		p.*45*	ENST00000356253				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5598.1	.	MUTECT|MUSE	.	CGGGGCCCGAG	NONE	.	.	.	.	.	ENSP00000349320	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,5_prime_UTR_variant,,ENST00000356253,;CACNA2D1,5_prime_UTR_variant,,ENST00000356860,;CACNA2D1,5_prime_UTR_variant,,ENST00000423588,;	207	23	33	SUCCESS
DYNC1I1	1780	.	GRCh37	7	95705439	95705439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	59	89	0	ENST00000324972.6:c.1631A>G	p.His544Arg	p.H544R	ENST00000324972	NM_004411.4	544	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS5644.1	1631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCATCCTG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000320130	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000324972	Transcript	.	.	ENSG00000158560	2963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0.02)	.	DC1I1_HUMAN	DYNC1I1	HGNC	Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN	.	UPI0000129A01	SNV	DYNC1I1,missense_variant,p.His507Arg,ENST00000359388,;DYNC1I1,missense_variant,p.His527Arg,ENST00000457059,;DYNC1I1,missense_variant,p.His524Arg,ENST00000437599,;DYNC1I1,missense_variant,p.His527Arg,ENST00000447467,;DYNC1I1,missense_variant,p.His507Arg,ENST00000537881,;DYNC1I1,missense_variant,p.His544Arg,ENST00000324972,;	1824	89	82	SUCCESS
LRP12	29967	.	GRCh37	8	105511591	105511591	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	37	92	0	ENST00000276654.5:c.429G>T	p.Ser143=	p.S143=	ENST00000276654	NM_013437.4	143	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6303.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCGAATG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000276654	.	4/7	.	.	.	.	.	.	.	.	COSM403864	4/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,synonymous_variant,p.%3D,ENST00000276654,;LRP12,synonymous_variant,p.%3D,ENST00000424843,;LRP12,upstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,upstream_gene_variant,,ENST00000522046,;LRP12,downstream_gene_variant,,ENST00000519675,;	538	92	136	SUCCESS
EIF3H	8667	.	GRCh37	8	117658834	117658834	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	56	0	ENST00000521861.1:c.837G>A	p.Gln279=	p.Q279=	ENST00000521861	NM_003756.2	279	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS6319.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACGCTGCTG	BUFFER|p.R280C|c.838C>T|3	.	.	Low_complexity_(Seg):seg,HAMAP:MF_03007,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF3	.	.	ENSP00000429931	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000521861	Transcript	.	.	ENSG00000147677	3273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF3H_HUMAN	EIF3H	HGNC	Q6IB98_HUMAN	.	UPI00000477E8	SNV	EIF3H,synonymous_variant,p.%3D,ENST00000276682,;EIF3H,synonymous_variant,p.%3D,ENST00000521861,;EIF3H,downstream_gene_variant,,ENST00000518949,;EIF3H,non_coding_transcript_exon_variant,,ENST00000520289,;	861	56	47	SUCCESS
RAD54B	25788	.	GRCh37	8	95399347	95399347	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	49	50	0	ENST00000336148.5:c.1850A>G	p.Lys617Arg	p.K617R	ENST00000336148	NM_012415.3	617	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6262.1	1850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTTTTCT	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568	.	.	ENSP00000336606	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000336148	Transcript	.	.	ENSG00000197275	17228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.55)	.	RA54B_HUMAN	RAD54B	HGNC	E5RHN9_HUMAN	.	UPI0000070088	SNV	RAD54B,missense_variant,p.Lys617Arg,ENST00000336148,;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,non_coding_transcript_exon_variant,,ENST00000518358,;RAD54B,downstream_gene_variant,,ENST00000463267,;	1975	50	85	SUCCESS
NR4A3	8013	.	GRCh37	9	102595735	102595735	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	45	118	0	ENST00000395097.2:c.1253G>C	p.Arg418Thr	p.R418T	ENST00000395097	NM_173200.2	418	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS6742.1	1286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGAGTAA	NONE	.	.	Superfamily_domains:SSF48508,Gene3D:1.10.565.10,hmmpanther:PTHR24085:SF2,hmmpanther:PTHR24085	.	.	ENSP00000333122	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000330847	Transcript	.	.	ENSG00000119508	7982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.03)	.	NR4A3_HUMAN	NR4A3	HGNC	.	.	UPI0000160FE4	SNV	NR4A3,missense_variant,p.Arg429Thr,ENST00000330847,;NR4A3,missense_variant,p.Arg418Thr,ENST00000338488,;NR4A3,missense_variant,p.Arg418Thr,ENST00000395097,;	1330	118	100	SUCCESS
RGS3	5998	.	GRCh37	9	116268749	116268749	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	56	262	0	ENST00000350696.5:c.1061G>A	p.Cys354Tyr	p.C354Y	ENST00000350696		354	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS43869.1	1061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGTGTGG	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF4,PROSITE_profiles:PS50106	.	.	ENSP00000363255	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000374140	Transcript	.	.	ENSG00000138835	9999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGS3_HUMAN	RGS3	HGNC	H7BXY1_HUMAN,C9J6G2_HUMAN	.	UPI00001C0F58	SNV	RGS3,missense_variant,p.Cys242Tyr,ENST00000317613,;RGS3,missense_variant,p.Cys73Tyr,ENST00000343817,;RGS3,missense_variant,p.Cys354Tyr,ENST00000374140,;RGS3,missense_variant,p.Cys73Tyr,ENST00000394646,;RGS3,missense_variant,p.Cys354Tyr,ENST00000350696,;RGS3,5_prime_UTR_variant,,ENST00000374136,;RGS3,non_coding_transcript_exon_variant,,ENST00000464306,;RGS3,non_coding_transcript_exon_variant,,ENST00000466314,;RGS3,non_coding_transcript_exon_variant,,ENST00000478599,;	1270	262	152	SUCCESS
IFNA14	3448	.	GRCh37	9	21239412	21239412	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs702212	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	43	142	0	ENST00000380222.2:c.523del	p.Leu175SerfsTer11	p.L175Sfs*11	ENST00000380222	NM_002172.2	175	Ctc/tc	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS6501.1	523	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGAGAGGGATC	NONE	byFrequency|suspect|byCluster	.	hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266	.	.	ENSP00000369571	.	1/1	.	.	.	.	.	.	.	.	rs702212	1/1	PASS	ENST00000380222	Transcript	.	.	ENSG00000228083	5420	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFN14_HUMAN	IFNA14	HGNC	.	.	UPI00000541D5	deletion	IFNA14,frameshift_variant,p.Leu175SerfsTer11,ENST00000380222,;	567	142	160	SUCCESS
EXOSC3	51010	.	GRCh37	9	37783971	37783971	+	synonymous_variant	Silent	SNP	T	T	C	rs1445940928	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	74	0	ENST00000327304.5:c.414A>G	p.Pro138=	p.P138=	ENST00000327304	NM_016042.3	138	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS35016.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGGCTC	NONE	.	.	Superfamily_domains:SSF50249,hmmpanther:PTHR21321,hmmpanther:PTHR21321:SF3	.	.	ENSP00000323046	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000327304	Transcript	.	.	ENSG00000107371	17944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOS3_HUMAN	EXOSC3	HGNC	.	.	UPI0000134936	SNV	EXOSC3,synonymous_variant,p.%3D,ENST00000327304,;EXOSC3,synonymous_variant,p.%3D,ENST00000396521,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000482614,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000489414,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000490516,;EXOSC3,synonymous_variant,p.%3D,ENST00000465229,;RP11-613M10.9,3_prime_UTR_variant,,ENST00000540557,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000496910,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000465860,;	427	74	36	SUCCESS
HNRNPK	3190	.	GRCh37	9	86585154	86585154	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	46	0	ENST00000351839.3:c.1284A>C	p.Glu428Asp	p.E428D	ENST00000351839		428	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS6668.1	1284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCTTCTAA	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF102,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000365439	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000376263	Transcript	.	.	ENSG00000165119	5044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.243)	.	tolerated(0.05)	.	HNRPK_HUMAN	HNRNPK	HGNC	Q6IBN1_HUMAN	.	UPI0000021C42	SNV	HNRNPK,missense_variant,p.Glu72Asp,ENST00000481820,;HNRNPK,missense_variant,p.Glu428Asp,ENST00000376264,;HNRNPK,missense_variant,p.Glu428Asp,ENST00000351839,;HNRNPK,missense_variant,p.Glu428Asp,ENST00000376263,;HNRNPK,missense_variant,p.Glu428Asp,ENST00000376281,;HNRNPK,missense_variant,p.Glu428Asp,ENST00000360384,;HNRNPK,downstream_gene_variant,,ENST00000457156,;MIR7-1,upstream_gene_variant,,ENST00000384871,;RP11-575L7.8,upstream_gene_variant,,ENST00000448389,;HNRNPK,non_coding_transcript_exon_variant,,ENST00000493362,;HNRNPK,non_coding_transcript_exon_variant,,ENST00000492865,;HNRNPK,downstream_gene_variant,,ENST00000472778,;HNRNPK,downstream_gene_variant,,ENST00000376256,;	1508	47	41	SUCCESS
FRMPD3	84443	.	GRCh37	X	106846185	106846185	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs959782725	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	43	46	0	ENST00000276185.4:c.5015G>A	p.Arg1672Gln	p.R1672Q	ENST00000276185		1672	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	5015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGGGCCT	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6	.	.	ENSP00000276185	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,missense_variant,p.Arg1672Gln,ENST00000276185,;FRMPD3,missense_variant,p.Arg1620Gln,ENST00000439554,;	5015	46	46	SUCCESS
SAGE1	55511	.	GRCh37	X	134988645	134988645	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	82	120	0	ENST00000324447.3:c.671C>G	p.Thr224Ser	p.T224S	ENST00000324447		224	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS14652.1	671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGACTCTTC	BUFFER|p.R226*|c.676C>T|3	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.13)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Thr224Ser,ENST00000370709,;SAGE1,missense_variant,p.Thr224Ser,ENST00000535938,;SAGE1,missense_variant,p.Thr224Ser,ENST00000324447,;SAGE1,intron_variant,,ENST00000537770,;	838	120	89	SUCCESS
FMR1NB	158521	.	GRCh37	X	147062874	147062874	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs370614051	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	27	42	0	ENST00000370467.3:c.-49G>A		p.*17*	ENST00000370467	NM_152578.2			0	A:0.0003	.	.	.	.	A	.	protein_coding	YES	CCDS14683.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGGACCG	NONE	.	.	.	.	A:0.0003	ENSP00000359498	.	1/6	.	.	.	.	.	.	.	.	rs370614051	1/6	PASS	ENST00000370467	Transcript	.	.	ENSG00000176988	26372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMR1N_HUMAN	FMR1NB	HGNC	F2Z3J3_HUMAN	.	UPI0000062299	SNV	FMR1NB,5_prime_UTR_variant,,ENST00000370467,;	26	43	28	SUCCESS
PTCHD1	139411	.	GRCh37	X	23410846	23410846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	36	63	0	ENST00000379361.4:c.1211G>A	p.Cys404Tyr	p.C404Y	ENST00000379361	NM_173495.2	404	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS35215.2	1211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCAATT	NONE	.	.	Superfamily_domains:SSF82866,Pfam_domain:PF02460,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36,PROSITE_profiles:PS50156	.	.	ENSP00000368666	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379361	Transcript	.	.	ENSG00000165186	26392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	tolerated(0.58)	.	PTHD1_HUMAN	PTCHD1	HGNC	.	.	UPI000059DAD8	SNV	PTCHD1,missense_variant,p.Cys404Tyr,ENST00000379361,;PTCHD1,3_prime_UTR_variant,,ENST00000456522,;	2071	63	40	SUCCESS
ARSF	416	.	GRCh37	X	3019189	3019189	+	synonymous_variant	Silent	SNP	A	A	G	rs759666385	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	102	249	0	ENST00000359361.2:c.1029A>G	p.Thr343=	p.T343=	ENST00000359361	NM_004042.4	343	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS14123.1	1029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACATCAGA	NONE	byFrequency	.	Superfamily_domains:SSF53649,Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF73	.	.	ENSP00000370519	.	8/11	.	.	.	.	.	.	.	.	rs759666385	8/11	PASS	ENST00000381127	Transcript	.	.	ENSG00000062096	721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARSF_HUMAN	ARSF	HGNC	.	.	UPI00001A9629	SNV	ARSF,synonymous_variant,p.%3D,ENST00000381127,;ARSF,synonymous_variant,p.%3D,ENST00000359361,;ARSF,synonymous_variant,p.%3D,ENST00000537104,;	1250	249	121	SUCCESS
TBL1Y	90665	.	GRCh37	Y	6939610	6939610	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	33	89	0	ENST00000346432.3:c.742A>C	p.Thr248Pro	p.T248P	ENST00000346432	NM_134259.1	248	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS14779.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAACACTA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22846,hmmpanther:PTHR22846:SF36,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000372499	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000383032	Transcript	.	.	ENSG00000092377	18502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	TBL1Y_HUMAN	TBL1Y	HGNC	C9JCW3_HUMAN	.	UPI0000136A73	SNV	TBL1Y,missense_variant,p.Thr248Pro,ENST00000383032,;TBL1Y,missense_variant,p.Thr248Pro,ENST00000355162,;TBL1Y,missense_variant,p.Thr248Pro,ENST00000346432,;	1389	89	37	SUCCESS
OBFC1	0	.	GRCh37	10	105658711	105658711	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	121	0	ENST00000224950.3:c.505G>A	p.Glu169Lys	p.E169K	ENST00000224950	NM_024928.4	169	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7552.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCAAGCA	NONE	.	.	hmmpanther:PTHR13989:SF11,hmmpanther:PTHR13989,Pfam_domain:PF09170,PIRSF_domain:PIRSF036950,Superfamily_domains:SSF50249	.	.	ENSP00000224950	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000224950	Transcript	1	.	ENSG00000107960	26200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	deleterious(0.01)	.	STN1_HUMAN	OBFC1	HGNC	.	.	UPI000013C85A	SNV	OBFC1,missense_variant,p.Glu169Lys,ENST00000224950,;OBFC1,missense_variant,p.Glu169Lys,ENST00000369764,;OBFC1,non_coding_transcript_exon_variant,,ENST00000466828,;OBFC1,non_coding_transcript_exon_variant,,ENST00000472951,;	673	121	70	SUCCESS
TDRD1	56165	.	GRCh37	10	115988094	115988094	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	42	0	ENST00000251864.2:c.3538+210C>A		p.*1180*	ENST00000251864	NM_198795.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7588.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACCCCCA	NONE	.	.	.	.	.	ENSP00000251864	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	.	.	MODIFIER	25/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,3_prime_UTR_variant,,ENST00000369280,;TDRD1,intron_variant,,ENST00000369282,;TDRD1,intron_variant,,ENST00000369281,;TDRD1,intron_variant,,ENST00000251864,;TDRD1,intron_variant,,ENST00000422662,;	.	42	19	SUCCESS
ADARB2	105	.	GRCh37	10	1246297	1246297	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	32	0	ENST00000381312.1:c.1683-210C>A		p.*561*	ENST00000381312	NM_018702.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7058.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGTGTGC	NONE	.	.	.	.	.	ENSP00000370713	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,5_prime_UTR_variant,,ENST00000381310,;ADARB2,5_prime_UTR_variant,,ENST00000381305,;ADARB2,intron_variant,,ENST00000381312,;ADARB2,non_coding_transcript_exon_variant,,ENST00000477140,;	.	32	40	SUCCESS
ZRANB1	54764	.	GRCh37	10	126631222	126631222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	10	199	0	ENST00000359653.4:c.160G>T	p.Asp54Tyr	p.D54Y	ENST00000359653	NM_017580.2	54	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS7642.1	160	MUTECT|MUSE|VARSCANS	.	ATTGGGATCCT	NONE	.	.	hmmpanther:PTHR13367	.	.	ENSP00000352676	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000359653	Transcript	.	.	ENSG00000019995	18224	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.341)	.	tolerated(0.07)	.	ZRAN1_HUMAN	ZRANB1	HGNC	.	.	UPI000013C53E	SNV	ZRANB1,missense_variant,p.Asp54Tyr,ENST00000359653,;RP11-298J20.4,non_coding_transcript_exon_variant,,ENST00000508096,;RP11-298J20.3,downstream_gene_variant,,ENST00000449984,;	531	199	113	SUCCESS
CUBN	8029	.	GRCh37	10	17113474	17113474	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	20	119	0	ENST00000377833.4:c.2576C>T	p.Thr859Ile	p.T859I	ENST00000377833	NM_001081.3	859	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS7113.1	2576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGTGAAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	19/67	.	.	.	.	.	.	.	.	.	19/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.479)	.	tolerated(0.5)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Thr859Ile,ENST00000377833,;	2642	119	96	SUCCESS
SVIL	6840	.	GRCh37	10	29822350	29822350	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	50	0	ENST00000355867.4:c.946G>A	p.Ala316Thr	p.A316T	ENST00000355867	NM_021738.2	316	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7164.1	946	MUTECT|MUSE	.	TCGAGCACTTT	NONE	.	.	.	.	.	ENSP00000364547	.	10/40	.	.	.	.	.	.	.	.	.	10/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.049)	.	tolerated(0.23)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Ala316Thr,ENST00000355867,;SVIL,missense_variant,p.Ala316Thr,ENST00000375398,;SVIL,intron_variant,,ENST00000375400,;	1396	50	37	SUCCESS
NRP1	8829	.	GRCh37	10	33619799	33619799	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374276976	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	26	111	0	ENST00000265371.4:c.85G>A	p.Asp29Asn	p.D29N	ENST00000265371		29	Gat/Aat	0	T:0.0002	.	.	.	.	T	D/N	protein_coding	YES	CCDS7177.1	85	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATCGCCAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF616,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF036960	.	T:0	ENSP00000265371	.	3/18	.	.	.	.	.	.	.	.	rs374276976	3/18	PASS	ENST00000265371	Transcript	.	.	ENSG00000099250	8004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious(0.03)	.	NRP1_HUMAN	NRP1	HGNC	Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN	.	UPI000013D60A	SNV	NRP1,missense_variant,p.Asp29Asn,ENST00000395995,;NRP1,missense_variant,p.Asp29Asn,ENST00000374867,;NRP1,missense_variant,p.Asp29Asn,ENST00000265371,;NRP1,missense_variant,p.Asp29Asn,ENST00000374816,;NRP1,missense_variant,p.Asp29Asn,ENST00000374822,;NRP1,missense_variant,p.Asp29Asn,ENST00000432372,;NRP1,missense_variant,p.Asp29Asn,ENST00000374823,;NRP1,missense_variant,p.Asp29Asn,ENST00000374821,;NRP1,5_prime_UTR_variant,,ENST00000374875,;	611	111	138	SUCCESS
HSD17B7P2	158160	.	GRCh37	10	38647391	38647391	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	109	0	ENST00000494540.1:n.262G>T		p.*88*	ENST00000494540				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGATGTC	NONE	.	.	.	.	.	.	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000494540	Transcript	.	.	ENSG00000099251	28120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSD17B7P2	HGNC	.	.	.	SNV	HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000494540,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000471365,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000374560,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000277668,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000356314,;	262	109	93	SUCCESS
GPRIN2	9721	.	GRCh37	10	46999960	46999960	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	81	0	ENST00000374314.4:c.1080G>T	p.Leu360=	p.L360=	ENST00000374314		360	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31192.1	1080	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGCATGT	NONE	.	.	hmmpanther:PTHR15718,Pfam_domain:PF15235	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,synonymous_variant,p.%3D,ENST00000374314,;GPRIN2,synonymous_variant,p.%3D,ENST00000374317,;	2035	81	57	SUCCESS
RBP3	5949	.	GRCh37	10	48383926	48383926	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	126	0	ENST00000224600.4:c.3306A>C	p.Glu1102Asp	p.E1102D	ENST00000224600	NM_002900.2	1102	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS7218.1	3306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTTCATC	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.523)	.	tolerated(0.5)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.Glu1102Asp,ENST00000224600,;AL731561.2,upstream_gene_variant,,ENST00000581861,;	3420	126	73	SUCCESS
FAM208B	0	.	GRCh37	10	5791217	5791217	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	76	0	ENST00000328090.5:c.5833A>C	p.Arg1945=	p.R1945=	ENST00000328090	NM_017782.4	1945	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS41485.1	5833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGAGGAGG	NONE	.	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,synonymous_variant,p.%3D,ENST00000328090,;	6458	76	83	SUCCESS
FBXO18	0	.	GRCh37	10	5945032	5945032	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	111	0	ENST00000379999.5:c.204G>C	p.Leu68Phe	p.L68F	ENST00000379999	NM_032807.4	68	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS7073.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGGCTCG	NONE	.	.	.	.	.	ENSP00000369335	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	tolerated(0.1)	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,missense_variant,p.Leu17Phe,ENST00000362091,;FBXO18,missense_variant,p.Leu68Phe,ENST00000379999,;FBXO18,5_prime_UTR_variant,,ENST00000397269,;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,intron_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000469009,;FBXO18,upstream_gene_variant,,ENST00000494526,;	308	111	91	SUCCESS
SFMBT2	57713	.	GRCh37	10	7214067	7214067	+	synonymous_variant	Silent	SNP	C	C	T	rs756528566	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	57	0	ENST00000361972.4:c.2205G>A	p.Glu735=	p.E735=	ENST00000361972	NM_001018039.1	735	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS31138.1	2205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCTCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62	.	.	ENSP00000355109	.	19/21	.	.	.	.	.	.	.	.	rs756528566	19/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,synonymous_variant,p.%3D,ENST00000361972,;SFMBT2,synonymous_variant,p.%3D,ENST00000397167,;	2296	57	49	SUCCESS
ADM	133	.	GRCh37	11	10327896	10327896	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373413227	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	78	0	ENST00000278175.5:c.266G>T	p.Arg89Leu	p.R89L	ENST00000278175		89	cGc/cTc	0	T:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS7801.1	266	MUTECT|MUSE	.	CGCCCGCATCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF3,Pfam_domain:PF00214,Prints_domain:PR00801	.	T:0.0001	ENSP00000436607	.	3/3	.	.	.	.	.	.	.	.	rs373413227	3/3	PASS	ENST00000528655	Transcript	.	.	ENSG00000148926	259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated(0.17)	.	ADML_HUMAN	ADM	HGNC	E9PL83_HUMAN	.	UPI00001255F0	SNV	ADM,missense_variant,p.Arg42Leu,ENST00000534464,;ADM,missense_variant,p.Arg21Leu,ENST00000530439,;ADM,missense_variant,p.Arg89Leu,ENST00000278175,;ADM,missense_variant,p.Arg89Leu,ENST00000525063,;ADM,missense_variant,p.Arg89Leu,ENST00000528655,;ADM,synonymous_variant,p.%3D,ENST00000526492,;ADM,downstream_gene_variant,,ENST00000524948,;ADM,downstream_gene_variant,,ENST00000528544,;RP11-351I24.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;	883	78	56	SUCCESS
OR10G9	219870	.	GRCh37	11	123893761	123893761	+	synonymous_variant	Silent	SNP	C	C	A	rs1288286467	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	42	190	0	ENST00000375024.1:c.42C>A	p.Gly14=	p.G14=	ENST00000375024	NM_001001953.1	14	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31703.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGCCTTCC	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000364164	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375024	Transcript	.	.	ENSG00000236981	15129	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10G9_HUMAN	OR10G9	HGNC	.	.	UPI0000041BE1	SNV	OR10G9,synonymous_variant,p.%3D,ENST00000375024,;	42	190	194	SUCCESS
OR8A1	390275	.	GRCh37	11	124440061	124440061	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	79	0	ENST00000284287.3:c.97G>C	p.Gly33Arg	p.G33R	ENST00000284287	NM_001005194.1	33	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS31712.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGGTTTA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF49	.	.	ENSP00000284287	.	1/1	.	.	.	.	.	.	.	.	COSM3444830	1/1	PASS	ENST00000284287	Transcript	.	.	ENSG00000196119	8469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	OR8A1_HUMAN	OR8A1	HGNC	.	.	UPI00003B286D	SNV	OR8A1,missense_variant,p.Gly33Arg,ENST00000284287,;	169	79	67	SUCCESS
CAT	847	.	GRCh37	11	34460553	34460553	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs557973663	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	39	197	0	ENST00000241052.4:c.-8C>T		p.*3*	ENST00000241052	NM_001752.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS7891.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACCGCACG	NONE	by1000G	.	.	T:0	.	ENSP00000241052	T:0	1/13	.	.	.	.	.	.	.	.	rs557973663	1/13	PASS	ENST00000241052	Transcript	.	T:0.0002	ENSG00000121691	1516	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	CATA_HUMAN	CAT	HGNC	Q8TAK2_HUMAN	.	UPI000002F090	SNV	CAT,5_prime_UTR_variant,,ENST00000241052,;	82	197	173	SUCCESS
OR51A7	119687	.	GRCh37	11	4929380	4929380	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	92	0	ENST00000359350.4:c.781C>T	p.His261Tyr	p.H261Y	ENST00000359350	NM_001004749.1	261	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS31364.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCATCAC	BUFFER|p.H262Y|c.784C>T|3	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF114,hmmpanther:PTHR26450,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000352305	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359350	Transcript	.	.	ENSG00000176895	15188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.07)	.	O51A7_HUMAN	OR51A7	HGNC	.	.	UPI0000041C23	SNV	OR51A7,missense_variant,p.His261Tyr,ENST00000359350,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	781	92	78	SUCCESS
TRIM51	84767	.	GRCh37	11	55655563	55655563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	241	103	338	0	ENST00000449290.2:c.563C>A	p.Ala188Glu	p.A188E	ENST00000449290	NM_032681.3	188	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	.	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCATTTC	NONE	.	.	hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103	.	.	ENSP00000395086	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.477)	.	tolerated(0.17)	.	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,missense_variant,p.Ala188Glu,ENST00000449290,;TRIM51,missense_variant,p.Ala45Glu,ENST00000244891,;	655	338	344	SUCCESS
AHNAK	79026	.	GRCh37	11	62288122	62288122	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	92	0	ENST00000378024.4:c.13767G>A	p.Lys4589=	p.K4589=	ENST00000378024	NM_001620.2	4589	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS31584.1	13767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCTTGAG	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,synonymous_variant,p.%3D,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	14042	92	87	SUCCESS
TUT1	64852	.	GRCh37	11	62344401	62344401	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	31	149	0	ENST00000476907.1:c.1359G>T	p.Val453=	p.V453=	ENST00000476907		453	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8021.2	1473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACACAGT	NONE	.	.	Superfamily_domains:SSF81631,hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF11	.	.	ENSP00000308000	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000308436	Transcript	.	.	ENSG00000149016	26184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TUT1	HGNC	F5H0R1_HUMAN,C9JBX0_HUMAN	.	UPI000199421A	SNV	TUT1,synonymous_variant,p.%3D,ENST00000476907,;TUT1,synonymous_variant,p.%3D,ENST00000308436,;TUT1,downstream_gene_variant,,ENST00000278279,;EEF1G,upstream_gene_variant,,ENST00000329251,;EEF1G,upstream_gene_variant,,ENST00000378019,;TUT1,downstream_gene_variant,,ENST00000494385,;EEF1G,upstream_gene_variant,,ENST00000524420,;EEF1G,upstream_gene_variant,,ENST00000532986,;MIR3654,synonymous_variant,p.%3D,ENST00000496634,;TUT1,non_coding_transcript_exon_variant,,ENST00000463241,;TUT1,non_coding_transcript_exon_variant,,ENST00000469480,;MIR3654,non_coding_transcript_exon_variant,,ENST00000526409,;EEF1G,upstream_gene_variant,,ENST00000525340,;MIR3654,upstream_gene_variant,,ENST00000534745,;TUT1,downstream_gene_variant,,ENST00000478537,;	1511	149	124	SUCCESS
FLRT1	23769	.	GRCh37	11	63883778	63883778	+	synonymous_variant	Silent	SNP	G	G	A	rs575714111	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	28	0	ENST00000246841.3:c.39G>A	p.Thr13=	p.T13=	ENST00000246841	NM_013280.4	13	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8057.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGCCCAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000246841	.	2/2	.	.	.	.	.	.	.	.	rs575714111	2/2	PASS	ENST00000246841	Transcript	.	.	ENSG00000126500	3760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT1_HUMAN	FLRT1	HGNC	O43408_HUMAN	.	UPI0000039F94	SNV	FLRT1,synonymous_variant,p.%3D,ENST00000246841,;MACROD1,intron_variant,,ENST00000255681,;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000545464,;	1082	28	25	SUCCESS
RPS6KA4	8986	.	GRCh37	11	64138858	64138858	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs111697527	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	19	147	0	ENST00000334205.4:c.2225G>T	p.Arg742Leu	p.R742L	ENST00000334205	NM_003942.2	742	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS8073.1	2225	RADIA|MUTECT|MUSE	.	CTCCCGCCGGG	NONE	.	.	PIRSF_domain:PIRSF000606	.	.	ENSP00000333896	.	17/17	.	.	.	.	.	.	.	.	rs111697527	17/17	PASS	ENST00000334205	Transcript	.	.	ENSG00000162302	10433	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.039)	.	tolerated(0.15)	.	KS6A4_HUMAN	RPS6KA4	HGNC	A0PJF8_HUMAN	.	UPI000006F835	SNV	RPS6KA4,missense_variant,p.Arg494Leu,ENST00000294261,;RPS6KA4,missense_variant,p.Arg742Leu,ENST00000334205,;RPS6KA4,missense_variant,p.Arg735Leu,ENST00000528057,;RPS6KA4,downstream_gene_variant,,ENST00000530504,;MIR1237,downstream_gene_variant,,ENST00000408346,;RPS6KA4,3_prime_UTR_variant,,ENST00000528355,;RPS6KA4,downstream_gene_variant,,ENST00000532885,;	2290	147	112	SUCCESS
VPS51	738	.	GRCh37	11	64863897	64863897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	141	0	ENST00000279281.3:c.175G>T	p.Asp59Tyr	p.D59Y	ENST00000279281	NM_013265.3	59	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8093.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGACCCG	NONE	.	.	hmmpanther:PTHR15954:SF4,hmmpanther:PTHR15954	.	.	ENSP00000279281	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000279281	Transcript	.	.	ENSG00000149823	1172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.635)	.	deleterious(0.01)	.	VPS51_HUMAN	VPS51	HGNC	E9PMB6_HUMAN,E9PJ36_HUMAN	.	UPI000006D6D8	SNV	VPS51,missense_variant,p.Asp59Tyr,ENST00000530773,;VPS51,missense_variant,p.Asp89Tyr,ENST00000528588,;VPS51,missense_variant,p.Asp59Tyr,ENST00000529180,;VPS51,missense_variant,p.Asp59Tyr,ENST00000279281,;VPS51,upstream_gene_variant,,ENST00000526578,;VPS51,upstream_gene_variant,,ENST00000534557,;VPS51,missense_variant,p.Asp59Tyr,ENST00000533487,;VPS51,missense_variant,p.Asp59Tyr,ENST00000534124,;VPS51,non_coding_transcript_exon_variant,,ENST00000528050,;VPS51,non_coding_transcript_exon_variant,,ENST00000533656,;	267	141	123	SUCCESS
SLC25A45	283130	.	GRCh37	11	65144465	65144465	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs200825852	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	21	80	0	ENST00000398802.1:c.422del	p.Pro141HisfsTer30	p.P141Hfs*30	ENST00000398802	NM_182556.2	141	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS41670.1	422	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGGTGGGGGG	NONE	byCluster	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF249,PROSITE_profiles:PS50920	.	.	ENSP00000381782	.	6/7	.	.	.	.	.	.	.	.	rs200825852	6/7	PASS	ENST00000398802	Transcript	.	.	ENSG00000162241	27442	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S2545_HUMAN	SLC25A45	HGNC	E9PK53_HUMAN	.	UPI0000199B26	deletion	SLC25A45,frameshift_variant,p.Pro37HisfsTer30,ENST00000377152,;SLC25A45,frameshift_variant,p.Pro79HisfsTer30,ENST00000526432,;SLC25A45,frameshift_variant,p.Pro141HisfsTer30,ENST00000398802,;SLC25A45,frameshift_variant,p.Pro117HisfsTer30,ENST00000360662,;SLC25A45,frameshift_variant,p.Pro99HisfsTer30,ENST00000417511,;SLC25A45,frameshift_variant,p.Pro141HisfsTer30,ENST00000527174,;SLC25A45,frameshift_variant,p.Pro99HisfsTer30,ENST00000294187,;SLC25A45,frameshift_variant,p.Pro117HisfsTer30,ENST00000534028,;SLC25A45,downstream_gene_variant,,ENST00000530936,;RP11-867O8.5,downstream_gene_variant,,ENST00000533886,;SLC25A45,3_prime_UTR_variant,,ENST00000533629,;SLC25A45,3_prime_UTR_variant,,ENST00000526259,;SLC25A45,3_prime_UTR_variant,,ENST00000526898,;SLC25A45,non_coding_transcript_exon_variant,,ENST00000534338,;SLC25A45,non_coding_transcript_exon_variant,,ENST00000531791,;SLC25A45,downstream_gene_variant,,ENST00000529431,;SLC25A45,downstream_gene_variant,,ENST00000524438,;SLC25A45,downstream_gene_variant,,ENST00000529962,;SLC25A45,downstream_gene_variant,,ENST00000525944,;	626	80	102	SUCCESS
C2CD3	26005	.	GRCh37	11	73760482	73760482	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1388308285	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	89	0	ENST00000334126.7:c.5261G>T	p.Cys1754Phe	p.C1754F	ENST00000334126	NM_001286577.1	1754	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31636.1	5261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCACTCT	NONE	.	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000323339	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Cys562Phe,ENST00000414160,;C2CD3,missense_variant,p.Cys1754Phe,ENST00000313663,;C2CD3,missense_variant,p.Cys1754Phe,ENST00000334126,;C2CD3,upstream_gene_variant,,ENST00000538361,;C2CD3,downstream_gene_variant,,ENST00000542484,;C2CD3,missense_variant,p.Cys510Phe,ENST00000442398,;	5488	89	82	SUCCESS
C11orf30	0	.	GRCh37	11	76164378	76164378	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	57	0	ENST00000334736.3:c.191G>T	p.Arg64Leu	p.R64L	ENST00000334736	NM_020193.3	64	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS8244.1	191	MUTECT|MUSE	.	CCACCGTGCTG	NONE	.	.	Superfamily_domains:0053920,Pfam_domain:PF03735,hmmpanther:PTHR16500:SF2,hmmpanther:PTHR16500,PROSITE_profiles:PS51138	.	.	ENSP00000432327	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000529032	Transcript	.	.	ENSG00000158636	18071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.886)	.	deleterious_low_confidence(0)	.	EMSY_HUMAN	C11orf30	HGNC	.	.	UPI0000071307	SNV	C11orf30,missense_variant,p.Arg64Leu,ENST00000533988,;C11orf30,missense_variant,p.Arg64Leu,ENST00000533248,;C11orf30,missense_variant,p.Arg64Leu,ENST00000524767,;C11orf30,missense_variant,p.Arg64Leu,ENST00000524490,;C11orf30,missense_variant,p.Arg64Leu,ENST00000334736,;C11orf30,missense_variant,p.Arg64Leu,ENST00000525038,;C11orf30,missense_variant,p.Arg64Leu,ENST00000525919,;C11orf30,missense_variant,p.Arg64Leu,ENST00000343878,;C11orf30,missense_variant,p.Arg64Leu,ENST00000529032,;C11orf30,intron_variant,,ENST00000533972,;C11orf30,non_coding_transcript_exon_variant,,ENST00000525959,;C11orf30,non_coding_transcript_exon_variant,,ENST00000528826,;C11orf30,non_coding_transcript_exon_variant,,ENST00000427574,;	191	57	52	SUCCESS
ACACB	32	.	GRCh37	12	109616910	109616910	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	76	0	ENST00000338432.7:c.1455A>G	p.Pro485=	p.P485=	ENST00000338432		485	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS31898.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCAGGCTC	NONE	.	.	PROSITE_profiles:PS50979,PROSITE_profiles:PS50975,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Pfam_domain:PF02786,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059	.	.	ENSP00000341044	.	10/53	.	.	.	.	.	.	.	.	.	10/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,synonymous_variant,p.%3D,ENST00000377854,;ACACB,synonymous_variant,p.%3D,ENST00000377848,;ACACB,synonymous_variant,p.%3D,ENST00000338432,;ACACB,non_coding_transcript_exon_variant,,ENST00000543080,;	1574	76	47	SUCCESS
PTPN11	5781	.	GRCh37	12	112926248	112926248	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs121918468	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	56	0	ENST00000351677.2:c.1381G>T	p.Ala461Ser	p.A461S	ENST00000351677	NM_002834.3	461	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9163.1	1381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GCAGTGCTGGA	NONE	byCluster	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,PROSITE_patterns:PS00383,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF000929,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000340944	.	12/16	.	.	.	.	.	.	.	.	CM043335,CM096577,rs121918468,COSM1287456	12/16	PASS	ENST00000351677	Transcript	.	.	ENSG00000179295	9644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	possibly_damaging(0.884)	.	deleterious(0.05)	0,0,0,1	PTN11_HUMAN	PTPN11	HGNC	B3GUD4_HUMAN,B3GUD3_HUMAN	.	UPI000013296E	SNV	PTPN11,missense_variant,p.Ala461Ser,ENST00000351677,;PTPN11,downstream_gene_variant,,ENST00000392597,;	1579	56	56	SUCCESS
SRRM4	84530	.	GRCh37	12	119540048	119540048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	50	190	1	ENST00000267260.4:c.139C>A	p.Pro47Thr	p.P47T	ENST00000267260	NM_194286.3	47	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS44994.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCCCAG	NONE	.	.	.	.	.	ENSP00000267260	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.27)	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Pro47Thr,ENST00000267260,;RP11-364C11.2,intron_variant,,ENST00000537730,;	527	191	164	SUCCESS
CAMKK2	10645	.	GRCh37	12	121687622	121687622	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	94	0	ENST00000324774.5:c.1291C>T	p.Pro431Ser	p.P431S	ENST00000324774	NM_006549.3	431	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9216.1	1291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGGGTTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF178,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000312741	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000324774	Transcript	.	.	ENSG00000110931	1470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KKCC2_HUMAN	CAMKK2	HGNC	Q8IZW1_HUMAN,F5H4I7_HUMAN,F5H360_HUMAN	.	UPI000013D208	SNV	CAMKK2,missense_variant,p.Pro431Ser,ENST00000412367,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000324774,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000347034,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000404169,;CAMKK2,missense_variant,p.Pro218Ser,ENST00000545538,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000538733,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000392473,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000402834,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000337174,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000392474,;CAMKK2,missense_variant,p.Pro431Ser,ENST00000446440,;CAMKK2,downstream_gene_variant,,ENST00000535524,;	2120	94	88	SUCCESS
KDM2B	84678	.	GRCh37	12	121947514	121947514	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	106	0	ENST00000377071.4:c.1503G>C	p.Glu501Asp	p.E501D	ENST00000377071	NM_032590.4	501	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS41850.1	1503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCTCCGT	NONE	.	.	hmmpanther:PTHR23123:SF10,hmmpanther:PTHR23123	.	.	ENSP00000366271	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000377071	Transcript	.	.	ENSG00000089094	13610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.21)	.	KDM2B_HUMAN	KDM2B	HGNC	F5H7T7_HUMAN,F5H6N6_HUMAN,F5H4A7_HUMAN,F5GXC2_HUMAN	.	UPI000006F36E	SNV	KDM2B,missense_variant,p.Glu464Asp,ENST00000446152,;KDM2B,missense_variant,p.Glu384Asp,ENST00000536437,;KDM2B,missense_variant,p.Glu501Asp,ENST00000377071,;KDM2B,missense_variant,p.Glu470Asp,ENST00000377069,;KDM2B,missense_variant,p.Glu411Asp,ENST00000538046,;KDM2B,downstream_gene_variant,,ENST00000545022,;KDM2B,upstream_gene_variant,,ENST00000542973,;KDM2B,downstream_gene_variant,,ENST00000538379,;KDM2B,downstream_gene_variant,,ENST00000541318,;KDM2B,downstream_gene_variant,,ENST00000542030,;KDM2B,3_prime_UTR_variant,,ENST00000543025,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;	1576	106	72	SUCCESS
ULK1	8408	.	GRCh37	12	132405693	132405693	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202232188	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	29	0	ENST00000321867.4:c.3010G>A	p.Val1004Ile	p.V1004I	ENST00000321867	NM_003565.2	1004	Gtc/Atc	0	.	A:0	.	A:0.0014	.	A	V/I	protein_coding	YES	CCDS9274.1	3010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGTCCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24348:SF19,hmmpanther:PTHR24348,Pfam_domain:PF12063,PIRSF_domain:PIRSF000580	A:0	.	ENSP00000324560	A:0	27/28	.	.	.	.	.	.	.	.	rs202232188	27/28	PASS	ENST00000321867	Transcript	.	A:0.0002	ENSG00000177169	12558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.576)	A:0	tolerated(0.18)	.	ULK1_HUMAN	ULK1	HGNC	F5H4E9_HUMAN,F5H1S7_HUMAN,F5GZQ0_HUMAN	.	UPI00001FB0D9	SNV	ULK1,missense_variant,p.Val249Ile,ENST00000540647,;ULK1,missense_variant,p.Val1004Ile,ENST00000321867,;ULK1,downstream_gene_variant,,ENST00000541761,;RP11-417L19.4,downstream_gene_variant,,ENST00000539078,;ULK1,non_coding_transcript_exon_variant,,ENST00000544718,;ULK1,non_coding_transcript_exon_variant,,ENST00000540568,;	3361	29	27	SUCCESS
PRMT8	56341	.	GRCh37	12	3701519	3701519	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	72	0	ENST00000382622.3:c.1101+1G>A		p.X367_splice	ENST00000382622	NM_019854.4	367		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8521.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGTAAGT	NONE	.	.	.	.	.	ENSP00000372067	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382622	Transcript	.	.	ENSG00000111218	5188	.	.	HIGH	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANM8_HUMAN	PRMT8	HGNC	.	.	UPI00005B2E00	SNV	PRMT8,splice_donor_variant,,ENST00000452611,;PRMT8,splice_donor_variant,,ENST00000382622,;PRMT8,splice_donor_variant,,ENST00000261252,;PRMT8,splice_donor_variant,,ENST00000543701,;	.	72	61	SUCCESS
ARID2	196528	.	GRCh37	12	46285641	46285641	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	143	0	ENST00000334344.6:c.5001T>A	p.Cys1667Ter	p.C1667*	ENST00000334344	NM_152641.2	1667	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS31783.1	5001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGTCTTTG	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	17/21	.	.	.	.	.	.	.	.	COSM1606149	17/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,stop_gained,p.Cys1667Ter,ENST00000334344,;ARID2,stop_gained,p.Cys1277Ter,ENST00000444670,;ARID2,stop_gained,p.Cys1518Ter,ENST00000422737,;ARID2,stop_gained,p.Cys275Ter,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000477947,;	5173	143	84	SUCCESS
ESPL1	9700	.	GRCh37	12	53684210	53684210	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs542853803	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	52	0	ENST00000257934.4:c.5321G>A	p.Arg1774Gln	p.R1774Q	ENST00000257934	NM_012291.4	1774	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS8852.1	5321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCGAGAAT	NONE	byFrequency	.	Pfam_domain:PF03568,hmmpanther:PTHR12792	.	.	ENSP00000257934	.	24/31	.	.	.	.	.	.	.	.	rs542853803	24/31	PASS	ENST00000257934	Transcript	.	.	ENSG00000135476	16856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	tolerated(0.16)	.	ESPL1_HUMAN	ESPL1	HGNC	H3BRX7_HUMAN	.	UPI00003668C3	SNV	ESPL1,missense_variant,p.Arg1774Gln,ENST00000552462,;ESPL1,missense_variant,p.Arg1774Gln,ENST00000257934,;PFDN5,upstream_gene_variant,,ENST00000551018,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;ESPL1,downstream_gene_variant,,ENST00000553016,;ESPL1,downstream_gene_variant,,ENST00000552600,;ESPL1,downstream_gene_variant,,ENST00000535123,;	5412	52	36	SUCCESS
LRP1	4035	.	GRCh37	12	57577573	57577573	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	80	1	ENST00000243077.3:c.5810A>G	p.Tyr1937Cys	p.Y1937C	ENST00000243077	NM_002332.2	1937	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8932.1	5810	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CATCTACTGGG	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	36/89	.	.	.	.	.	.	.	.	.	36/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Tyr1937Cys,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000554118,;	6276	82	65	SUCCESS
PPM1H	57460	.	GRCh37	12	63061108	63061108	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	35	0	ENST00000228705.6:c.1247T>A	p.Val416Glu	p.V416E	ENST00000228705	NM_020700.1	416	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS44934.1	1247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTACCTGA	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000228705	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000228705	Transcript	.	.	ENSG00000111110	18583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,missense_variant,p.Val416Glu,ENST00000228705,;PPM1H,splice_region_variant,,ENST00000551214,;	1548	35	41	SUCCESS
TMEM19	55266	.	GRCh37	12	72083445	72083445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	121	0	ENST00000266673.5:c.205C>A	p.Leu69Ile	p.L69I	ENST00000266673	NM_018279.3	69	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS9002.1	205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCTTAAA	NONE	.	.	hmmpanther:PTHR13353:SF5,hmmpanther:PTHR13353,Pfam_domain:PF01940	.	.	ENSP00000266673	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000266673	Transcript	.	.	ENSG00000139291	25605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.25)	.	TMM19_HUMAN	TMEM19	HGNC	F8VS20_HUMAN,F8VRE8_HUMAN	.	UPI000006EFAF	SNV	TMEM19,missense_variant,p.Leu69Ile,ENST00000549735,;TMEM19,missense_variant,p.Leu69Ile,ENST00000266673,;TMEM19,missense_variant,p.Leu69Ile,ENST00000550524,;TMEM19,5_prime_UTR_variant,,ENST00000546677,;RP11-293I14.2,3_prime_UTR_variant,,ENST00000548802,;	799	121	94	SUCCESS
TBC1D15	64786	.	GRCh37	12	72266748	72266748	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	78	0	ENST00000550746.1:c.169G>T	p.Ala57Ser	p.A57S	ENST00000550746	NM_022771.4	57	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31858.1	169	MUTECT|MUSE	.	ATGATGCATTA	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF250,Pfam_domain:PF12068	.	.	ENSP00000448182	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000550746	Transcript	.	.	ENSG00000121749	25694	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.26)	.	TBC15_HUMAN	TBC1D15	HGNC	Q9NSR4_HUMAN,F8VV61_HUMAN,A8K8E1_HUMAN	.	UPI000049DD7C	SNV	TBC1D15,missense_variant,p.Ala65Ser,ENST00000319106,;TBC1D15,missense_variant,p.Ala57Ser,ENST00000485960,;TBC1D15,missense_variant,p.Ala57Ser,ENST00000550746,;TBC1D15,5_prime_UTR_variant,,ENST00000491063,;TBC1D15,5_prime_UTR_variant,,ENST00000482439,;TBC1D15,5_prime_UTR_variant,,ENST00000393309,;TBC1D15,non_coding_transcript_exon_variant,,ENST00000546932,;TBC1D15,non_coding_transcript_exon_variant,,ENST00000474468,;TBC1D15,non_coding_transcript_exon_variant,,ENST00000460818,;TBC1D15,non_coding_transcript_exon_variant,,ENST00000549402,;TBC1D15,missense_variant,p.Ala57Ser,ENST00000468049,;TBC1D15,missense_variant,p.Ala57Ser,ENST00000462788,;TBC1D15,missense_variant,p.Ala57Ser,ENST00000472611,;TBC1D15,3_prime_UTR_variant,,ENST00000498482,;	233	78	59	SUCCESS
MGAT4C	25834	.	GRCh37	12	86373271	86373271	+	synonymous_variant	Silent	SNP	T	T	C	rs7958826	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	95	0	ENST00000548651.1:c.1233A>G	p.Leu411=	p.L411=	ENST00000548651	NM_013244.3	411	ctA/ctG	0	C:0.0095	C:0.0083	.	C:0.0014	.	C	L	protein_coding	YES	CCDS9030.1	1233	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTAGGGC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF8	C:0	C:0	ENSP00000474896	C:0	8/8	.	.	.	.	.	.	.	.	rs7958826	8/8	common_in_exac	ENST00000604798	Transcript	.	C:0.0024	ENSG00000182050	30871	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	MGT4C_HUMAN	MGAT4C	HGNC	F8VWY2_HUMAN	.	UPI00001B002C	SNV	MGAT4C,synonymous_variant,p.%3D,ENST00000548651,;MGAT4C,synonymous_variant,p.%3D,ENST00000552808,;MGAT4C,synonymous_variant,p.%3D,ENST00000332156,;MGAT4C,synonymous_variant,p.%3D,ENST00000604798,;MGAT4C,synonymous_variant,p.%3D,ENST00000549405,;MGAT4C,synonymous_variant,p.%3D,ENST00000393205,;MGAT4C,downstream_gene_variant,,ENST00000547225,;MGAT4C,downstream_gene_variant,,ENST00000552435,;	2438	95	91	SUCCESS
EEA1	8411	.	GRCh37	12	93213181	93213181	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	118	0	ENST00000322349.8:c.1631A>G	p.Lys544Arg	p.K544R	ENST00000322349	NM_003566.3	544	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS31874.1	1631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTTTTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23164:SF2,hmmpanther:PTHR23164	.	.	ENSP00000317955	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.57)	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,missense_variant,p.Lys544Arg,ENST00000322349,;EEA1,5_prime_UTR_variant,,ENST00000549790,;EEA1,3_prime_UTR_variant,,ENST00000418984,;	1896	118	106	SUCCESS
PZP	5858	.	GRCh37	12	9349002	9349002	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	58	0	ENST00000261336.2:c.1016T>A	p.Ile339Asn	p.I339N	ENST00000261336	NM_002864.2	339	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS8600.1	1016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGATTTCA	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	.	.	ENSP00000261336	.	10/36	.	.	.	.	.	.	.	.	.	10/36	PASS	ENST00000261336	Transcript	.	.	ENSG00000126838	9750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious(0)	.	PZP_HUMAN	PZP	HGNC	.	.	UPI000013D168	SNV	PZP,missense_variant,p.Ile339Asn,ENST00000261336,;PZP,missense_variant,p.Ile208Asn,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;	1045	58	50	SUCCESS
PZP	5858	.	GRCh37	12	9356498	9356498	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	117	0	ENST00000261336.2:c.133A>T	p.Lys45Ter	p.K45*	ENST00000261336	NM_002864.2	45	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS8600.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTTCTTAG	NONE	.	.	PROSITE_patterns:PS00430,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	.	.	ENSP00000261336	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000261336	Transcript	.	.	ENSG00000126838	9750	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZP_HUMAN	PZP	HGNC	.	.	UPI000013D168	SNV	PZP,stop_gained,p.Lys45Ter,ENST00000261336,;PZP,upstream_gene_variant,,ENST00000381997,;PZP,stop_gained,p.Lys45Ter,ENST00000535230,;	162	117	124	SUCCESS
CCDC41	0	.	GRCh37	12	94772626	94772626	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	24	86	0	ENST00000397809.5:c.742G>A	p.Ala248Thr	p.A248T	ENST00000397809	NM_016122.2	248	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41820.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGCATTTT	NONE	.	.	hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF2,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000380911	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000397809	Transcript	.	.	ENSG00000173588	17966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0)	.	.	CCDC41	HGNC	J3KNW7_HUMAN,H0YHH5_HUMAN	.	UPI0000D4BD6F	SNV	CCDC41,missense_variant,p.Ala215Thr,ENST00000397807,;CCDC41,missense_variant,p.Ala248Thr,ENST00000397809,;CCDC41,missense_variant,p.Ala248Thr,ENST00000339839,;CCDC41,missense_variant,p.Ala248Thr,ENST00000547575,;CCDC41,non_coding_transcript_exon_variant,,ENST00000549352,;CCDC41,non_coding_transcript_exon_variant,,ENST00000551250,;CCDC41,missense_variant,p.Ala215Thr,ENST00000547232,;	1292	86	116	SUCCESS
AMER2	219287	.	GRCh37	13	25744099	25744099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	48	0	ENST00000515384.1:c.1659C>A	p.Asp553Glu	p.D553E	ENST00000515384		553	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS53859.1	1659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGTCCCC	NONE	.	.	Pfam_domain:PF09422,hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237	.	.	ENSP00000426528	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000515384	Transcript	.	.	ENSG00000165566	26360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AMER2_HUMAN	AMER2	HGNC	Q8N785_HUMAN	.	UPI0000231C76	SNV	AMER2,missense_variant,p.Asp553Glu,ENST00000515384,;AMER2,missense_variant,p.Asp434Glu,ENST00000357816,;AMER2,missense_variant,p.Asp434Glu,ENST00000381853,;AMER2-AS1,downstream_gene_variant,,ENST00000413501,;	2327	48	44	SUCCESS
FREM2	341640	.	GRCh37	13	39438522	39438522	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	23	134	0	ENST00000280481.7:c.7762G>T	p.Glu2588Ter	p.E2588*	ENST00000280481	NM_207361.4	2588	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31960.1	7762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGAAGTG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,stop_gained,p.Glu2588Ter,ENST00000280481,;	7978	134	120	SUCCESS
KBTBD6	89890	.	GRCh37	13	41705442	41705442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	26	122	0	ENST00000379485.1:c.1206G>T	p.Arg402Ser	p.R402S	ENST00000379485	NM_152903.4	402	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9376.1	1206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCCTGGG	BUFFER|p.T403K|c.1208C>A|8	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF132,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000368799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379485	Transcript	.	.	ENSG00000165572	25340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.34)	.	KBTB6_HUMAN	KBTBD6	HGNC	.	.	UPI00001969BB	SNV	KBTBD6,missense_variant,p.Arg402Ser,ENST00000379485,;KBTBD6,missense_variant,p.Arg336Ser,ENST00000499385,;	1441	122	93	SUCCESS
FRMD6	122786	.	GRCh37	14	52174893	52174893	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	116	0	ENST00000344768.5:c.656A>G	p.Tyr219Cys	p.Y219C	ENST00000344768		219	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS58318.1	656	RADIA|MUTECT|MUSE	.	TAAATATATCA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000343899	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000344768	Transcript	.	.	ENSG00000139926	19839	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FRMD6_HUMAN	FRMD6	HGNC	G3V517_HUMAN,G3V3V8_HUMAN	.	UPI00000473F6	SNV	FRMD6,missense_variant,p.Tyr142Cys,ENST00000554167,;FRMD6,missense_variant,p.Tyr211Cys,ENST00000395718,;FRMD6,missense_variant,p.Tyr219Cys,ENST00000344768,;FRMD6,missense_variant,p.Tyr211Cys,ENST00000356218,;FRMD6,missense_variant,p.Tyr109Cys,ENST00000557405,;FRMD6,upstream_gene_variant,,ENST00000555197,;FRMD6,downstream_gene_variant,,ENST00000555936,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000554495,;	852	116	65	SUCCESS
MAP3K9	4293	.	GRCh37	14	71216737	71216737	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	197	0	ENST00000554752.2:c.1063T>G	p.Leu355Val	p.L355V	ENST00000554752	NM_001284230.1	355	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS32112.1	1063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTAAGCCAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF401,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Superfamily_domains:SSF56112	.	.	ENSP00000451263	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000555993	Transcript	.	.	ENSG00000006432	6861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	M3K9_HUMAN	MAP3K9	HGNC	Q8NEB1_HUMAN,B4DSG3_HUMAN,B4DGF4_HUMAN,B3KRI5_HUMAN	.	UPI00001D7B5C	SNV	MAP3K9,missense_variant,p.Leu49Val,ENST00000553414,;MAP3K9,missense_variant,p.Leu92Val,ENST00000554146,;MAP3K9,missense_variant,p.Leu355Val,ENST00000381250,;MAP3K9,missense_variant,p.Leu355Val,ENST00000555993,;MAP3K9,missense_variant,p.Leu355Val,ENST00000554752,;MAP3K9,non_coding_transcript_exon_variant,,ENST00000554024,;	1426	197	117	SUCCESS
VPS39	23339	.	GRCh37	15	42453011	42453011	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	18	108	0	ENST00000348544.4:c.2602C>T	p.Pro868Ser	p.P868S	ENST00000348544		868	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS10083.1	2569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGGTATC	NONE	.	.	hmmpanther:PTHR12894:SF10,hmmpanther:PTHR12894,Pfam_domain:PF10367	.	.	ENSP00000326534	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000318006	Transcript	.	.	ENSG00000166887	20593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.04)	.	VPS39_HUMAN	VPS39	HGNC	.	.	UPI0000169BB1	SNV	VPS39,missense_variant,p.Pro868Ser,ENST00000348544,;VPS39,missense_variant,p.Pro857Ser,ENST00000318006,;PLA2G4F,upstream_gene_variant,,ENST00000397272,;PLA2G4F,upstream_gene_variant,,ENST00000382396,;VPS39,downstream_gene_variant,,ENST00000563692,;VPS39,3_prime_UTR_variant,,ENST00000564994,;VPS39,non_coding_transcript_exon_variant,,ENST00000562258,;PLA2G4F,upstream_gene_variant,,ENST00000565553,;PLA2G4F,upstream_gene_variant,,ENST00000569985,;PLA2G4F,upstream_gene_variant,,ENST00000290497,;PLA2G4F,upstream_gene_variant,,ENST00000561627,;VPS39,downstream_gene_variant,,ENST00000561797,;VPS39,downstream_gene_variant,,ENST00000561818,;VPS39,downstream_gene_variant,,ENST00000562662,;VPS39,downstream_gene_variant,,ENST00000568755,;	2732	108	99	SUCCESS
IGDCC3	9543	.	GRCh37	15	65623935	65623935	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	63	0	ENST00000327987.4:c.1211A>G	p.Asn404Ser	p.N404S	ENST00000327987	NM_004884.3	404	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS10205.1	1211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTTCTCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF106,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332773	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,missense_variant,p.Asn267Ser,ENST00000558354,;IGDCC3,missense_variant,p.Asn404Ser,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,non_coding_transcript_exon_variant,,ENST00000559231,;	1463	64	59	SUCCESS
SPATA8	145946	.	GRCh37	15	97326945	97326945	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	89	0	ENST00000328504.3:c.60C>A	p.Ala20=	p.A20=	ENST00000328504	NM_173499.3	20	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10376.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCCCCTC	BUFFER|p.E18K|c.52G>A|7	.	.	.	.	.	ENSP00000328149	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000328504	Transcript	.	.	ENSG00000185594	28676	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAT8_HUMAN	SPATA8	HGNC	.	.	UPI000006FC10	SNV	SPATA8,synonymous_variant,p.%3D,ENST00000328504,;SPATA8,intron_variant,,ENST00000558553,;SPATA8-AS1,upstream_gene_variant,,ENST00000560888,;SPATA8-AS1,upstream_gene_variant,,ENST00000558722,;SPATA8,non_coding_transcript_exon_variant,,ENST00000561002,;SPATA8,non_coding_transcript_exon_variant,,ENST00000560327,;	327	89	74	SUCCESS
BBS2	583	.	GRCh37	16	56539942	56539942	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	101	0	ENST00000245157.5:c.724A>G	p.Asn242Asp	p.N242D	ENST00000245157	NM_031885.3	242	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS32451.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATTTTTCG	NONE	.	.	Superfamily_domains:SSF50978,PIRSF_domain:PIRSF013684,Gene3D:3nigC00,Pfam_domain:PF14783,hmmpanther:PTHR32465,hmmpanther:PTHR32465:SF0	.	.	ENSP00000245157	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000245157	Transcript	.	.	ENSG00000125124	967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	BBS2_HUMAN	BBS2	HGNC	Q8ND60_HUMAN,J3QLW0_HUMAN	.	UPI0000167B72	SNV	BBS2,missense_variant,p.Asn242Asp,ENST00000568104,;BBS2,missense_variant,p.Asn242Asp,ENST00000245157,;BBS2,downstream_gene_variant,,ENST00000569941,;BBS2,non_coding_transcript_exon_variant,,ENST00000561951,;BBS2,downstream_gene_variant,,ENST00000566689,;BBS2,downstream_gene_variant,,ENST00000565378,;BBS2,missense_variant,p.Asn49Asp,ENST00000562012,;BBS2,non_coding_transcript_exon_variant,,ENST00000561853,;BBS2,non_coding_transcript_exon_variant,,ENST00000565859,;BBS2,non_coding_transcript_exon_variant,,ENST00000569342,;BBS2,non_coding_transcript_exon_variant,,ENST00000565781,;BBS2,upstream_gene_variant,,ENST00000566495,;BBS2,upstream_gene_variant,,ENST00000566210,;BBS2,upstream_gene_variant,,ENST00000562059,;	1145	101	64	SUCCESS
PSKH1	5681	.	GRCh37	16	67942761	67942761	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374100286	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	32	157	0	ENST00000291041.5:c.109C>T	p.His37Tyr	p.H37Y	ENST00000291041	NM_006742.2	37	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10851.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGCACTTC	NONE	.	.	hmmpanther:PTHR24347:SF142,hmmpanther:PTHR24347	.	.	ENSP00000291041	.	2/3	.	.	.	.	.	.	.	.	rs374100286	2/3	PASS	ENST00000291041	Transcript	.	.	ENSG00000159792	9529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	deleterious_low_confidence(0.01)	.	KPSH1_HUMAN	PSKH1	HGNC	.	.	UPI000012DFE0	SNV	PSKH1,missense_variant,p.His37Tyr,ENST00000291041,;PSKH1,non_coding_transcript_exon_variant,,ENST00000570631,;	279	157	88	SUCCESS
SNAI3	333929	.	GRCh37	16	88747782	88747782	+	synonymous_variant	Silent	SNP	C	C	A	rs768044222	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	107	0	ENST00000332281.5:c.417G>T	p.Leu139=	p.L139=	ENST00000332281	NM_178310.3	139	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32505.1	417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCAGTTT	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF400	.	.	ENSP00000327968	.	2/3	.	.	.	.	.	.	.	.	rs768044222	2/3	PASS	ENST00000332281	Transcript	.	.	ENSG00000185669	18411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNAI3_HUMAN	SNAI3	HGNC	.	.	UPI0000197CFA	SNV	SNAI3,synonymous_variant,p.%3D,ENST00000332281,;SNAI3-AS1,intron_variant,,ENST00000563261,;SNAI3-AS1,upstream_gene_variant,,ENST00000596908,;SNAI3-AS1,upstream_gene_variant,,ENST00000567997,;	504	107	61	SUCCESS
MYH13	8735	.	GRCh37	17	10227448	10227448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	98	0	ENST00000252172.4:c.2825C>A	p.Ala942Asp	p.A942D	ENST00000252172	NM_003802.2	942	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS45613.1	2825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGGCAACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Superfamily_domains:SSF90257	.	.	ENSP00000404570	.	22/41	.	.	.	.	.	.	.	.	.	22/41	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	deleterious(0)	.	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,missense_variant,p.Ala942Asp,ENST00000418404,;MYH13,missense_variant,p.Ala942Asp,ENST00000252172,;RP11-401O9.3,intron_variant,,ENST00000577743,;	2989	98	60	SUCCESS
MYO15A	51168	.	GRCh37	17	18036653	18036653	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	55	0	ENST00000205890.5:c.4435C>T	p.Leu1479=	p.L1479=	ENST00000205890	NM_016239.3	1479	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42271.1	4435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCTGGCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF351,PROSITE_profiles:PS51456	.	.	ENSP00000205890	.	12/66	.	.	.	.	.	.	.	.	.	12/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,synonymous_variant,p.%3D,ENST00000205890,;	4773	55	54	SUCCESS
GGNBP2	79893	.	GRCh37	17	34923515	34923515	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1331050485	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	34	226	0	ENST00000304718.4:c.541G>A	p.Asp181Asn	p.D181N	ENST00000304718	NM_024835.4	181	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS11314.1	541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGATGTA	NONE	.	.	hmmpanther:PTHR13601	.	.	ENSP00000307617	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000304718	Transcript	.	.	ENSG00000005955	19357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	GGNB2_HUMAN	GGNBP2	HGNC	K7ELA8_HUMAN,B4DWN7_HUMAN	.	UPI00000728CB	SNV	GGNBP2,missense_variant,p.Asp181Asn,ENST00000304718,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000486208,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000495023,;	857	226	185	SUCCESS
GGNBP2	79893	.	GRCh37	17	34945736	34945736	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	106	0	ENST00000304718.4:c.1989A>T	p.Glu663Asp	p.E663D	ENST00000304718	NM_024835.4	663	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS11314.1	1989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAACAATA	NONE	.	.	hmmpanther:PTHR13601	.	.	ENSP00000307617	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000304718	Transcript	.	.	ENSG00000005955	19357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated_low_confidence(0.48)	.	GGNB2_HUMAN	GGNBP2	HGNC	K7ELA8_HUMAN,B4DWN7_HUMAN	.	UPI00000728CB	SNV	GGNBP2,missense_variant,p.Glu663Asp,ENST00000304718,;DHRS11,upstream_gene_variant,,ENST00000590554,;DHRS11,upstream_gene_variant,,ENST00000251312,;GGNBP2,downstream_gene_variant,,ENST00000588222,;DHRS11,upstream_gene_variant,,ENST00000394445,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000589269,;DHRS11,upstream_gene_variant,,ENST00000590527,;GGNBP2,downstream_gene_variant,,ENST00000586045,;GGNBP2,downstream_gene_variant,,ENST00000495023,;GGNBP2,downstream_gene_variant,,ENST00000483256,;	2305	106	123	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43516880	43516880	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200261737	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	50	0	ENST00000430334.3:c.3022G>T	p.Asp1008Tyr	p.D1008Y	ENST00000430334	NM_014798.2	1008	Gac/Tac	0	.	T:0	.	T:0	.	A	D/Y	protein_coding	YES	CCDS32671.1	3022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCGTGGT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50081,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5,Pfam_domain:PF13901,SMART_domains:SM00109	T:0	.	ENSP00000389913	T:0.001	11/12	.	.	.	.	.	.	.	.	rs200261737	11/12	PASS	ENST00000430334	Transcript	.	T:0.0002	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	T:0	deleterious(0)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Asp919Tyr,ENST00000421073,;PLEKHM1,missense_variant,p.Asp1008Tyr,ENST00000430334,;PLEKHM1,missense_variant,p.Asp65Tyr,ENST00000591580,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000579131,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000580404,;PLEKHM1,downstream_gene_variant,,ENST00000583150,;PLEKHM1,3_prime_UTR_variant,,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000585506,;PLEKHM1,downstream_gene_variant,,ENST00000446609,;PLEKHM1,downstream_gene_variant,,ENST00000590991,;	3156	50	49	SUCCESS
PITPNM3	83394	.	GRCh37	17	6386917	6386917	+	synonymous_variant	Silent	SNP	G	G	A	rs367702668	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	114	0	ENST00000262483.8:c.507C>T	p.Phe169=	p.F169=	ENST00000262483	NM_031220.3	169	ttC/ttT	0	T:0	.	.	.	.	A	F	protein_coding	YES	CCDS11076.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GCAGGGAAATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10658	.	T:0.0003	ENSP00000262483	.	6/20	.	.	.	.	.	.	.	.	rs367702668,COSM3521055	6/20	PASS	ENST00000262483	Transcript	.	.	ENSG00000091622	21043	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	0,1	PITM3_HUMAN	PITPNM3	HGNC	.	.	UPI000022A281	SNV	PITPNM3,synonymous_variant,p.%3D,ENST00000262483,;PITPNM3,synonymous_variant,p.%3D,ENST00000421306,;PITPNM3,upstream_gene_variant,,ENST00000572795,;	595	114	63	SUCCESS
TP53	7157	.	GRCh37	17	7577570	7577570	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs587782664	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	81	0	ENST00000269305.4:c.711G>T	p.Met237Ile	p.M237I	ENST00000269305	NM_001126112.2	237	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS11118.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic	TTACACATGTA	SITE|p.M237I|c.711G>T|7,SITE|p.M237I|c.711G>T|3,SITE|p.M237I|c.711G>T|31,SITE|p.M144I|c.432G>T|7,SITE|p.M237I|c.711G>T|6,SITE|p.M237I|c.711G>T|7,CODON|p.0?|c.1_1182del1182|6,CODON|p.M237I|c.711G>A|15,CODON|p.M237I|c.711G>C|9,CODON|p.M237I|c.711G>A|78,CODON|p.M237I|c.711G>A|10,CODON|p.M237I|c.711G>A|15,CODON|p.M144I|c.432G>A|15,CODON|p.M237I|c.711G>A|9,CODON|p.M237K|c.710T>A|9,CODON|p.M237R|c.710T>G|3,CODON|p.M237T|c.710T>C|3,CODON|p.M144T|c.431T>C|3,CODON|p.M237T|c.710T>C|3,CODON|p.M237T|c.710T>C|5,BUFFER|p.N239_C242delNSSC|c.715_726del12|3,BUFFER|p.S241delS|c.721_723delTCC|3,BUFFER|p.S241F|c.722_723CC>TT|5,BUFFER|p.C242fs*5|c.722delC|6,BUFFER|p.S241fs*6|c.721delT|9,BUFFER|p.S148F|c.443C>T|15,BUFFER|p.S241Y|c.722C>A|4,BUFFER|p.S241Y|c.722C>A|15,BUFFER|p.S241C|c.722C>G|28,BUFFER|p.S241C|c.722C>G|3,BUFFER|p.S148Y|c.443C>A|5,BUFFER|p.S241F|c.722C>T|15,BUFFER|p.S241F|c.722C>T|6,BUFFER|p.S241F|c.722C>T|83,BUFFER|p.S241C|c.722C>G|4,BUFFER|p.S241Y|c.722C>A|4,BUFFER|p.S241Y|c.722C>A|5,BUFFER|p.S241Y|c.722C>A|5,BUFFER|p.S148C|c.443C>G|4,BUFFER|p.S241F|c.722C>T|9,BUFFER|p.S241F|c.722C>T|14,BUFFER|p.S241T|c.721T>A|6,BUFFER|p.S241A|c.721T>G|10,BUFFER|p.S241P|c.721T>C|5,BUFFER|p.S240R|c.720T>A|4,BUFFER|p.S240R|c.720T>G|4,BUFFER|p.S240S|c.720T>C|3,BUFFER|p.S240I|c.719G>T|6,BUFFER|p.S240C|c.718A>T|3,BUFFER|p.S240G|c.718A>G|16,BUFFER|p.N239K|c.717C>G|5,BUFFER|p.N146S|c.437A>G|6,BUFFER|p.N239T|c.716A>C|6,BUFFER|p.N239S|c.716A>G|3,BUFFER|p.N239S|c.716A>G|6,BUFFER|p.N239S|c.716A>G|4,BUFFER|p.N239S|c.716A>G|25,BUFFER|p.N239S|c.716A>G|5,BUFFER|p.N239D|c.715A>G|11,BUFFER|p.N239D|c.715A>G|13,BUFFER|p.N239D|c.715A>G|44,BUFFER|p.N146D|c.436A>G|14,BUFFER|p.N239Y|c.715A>T|6,BUFFER|p.N239D|c.715A>G|14,BUFFER|p.N239fs*1|c.714_715insT|3,BUFFER|p.N239fs*25|c.714_715insN|12,BUFFER|p.N239fs*1|c.714_715insT|4,BUFFER|p.N239fs*1|c.714_715insT|3,BUFFER|p.N146fs*1|c.435_436insT|3,BUFFER|p.C238*|c.714T>A|4,BUFFER|p.C238W|c.714T>G|3,BUFFER|p.C238Y|c.713G>A|7,BUFFER|p.C238F|c.713G>T|12,BUFFER|p.C145F|c.434G>T|12,BUFFER|p.C238Y|c.713G>A|16,BUFFER|p.C238F|c.713G>T|11,BUFFER|p.C238Y|c.713G>A|15,BUFFER|p.C238Y|c.713G>A|65,BUFFER|p.C238F|c.713G>T|42,BUFFER|p.C238Y|c.713G>A|9,BUFFER|p.C238F|c.713G>T|6,BUFFER|p.C145Y|c.434G>A|16,BUFFER|p.C238F|c.713G>T|6,BUFFER|p.C238S|c.713G>C|8,BUFFER|p.C238G|c.712T>G|3,BUFFER|p.C145G|c.433T>G|3,BUFFER|p.C238G|c.712T>G|4,BUFFER|p.C238R|c.712T>C|17,BUFFER|p.C238G|c.712T>G|3,BUFFER|p.C238S|c.712T>A|12,BUFFER|p.M144V|c.430A>G|3,BUFFER|p.M237V|c.709A>G|3,BUFFER|p.M237V|c.709A>G|3,BUFFER|p.M237L|c.709A>T|4,BUFFER|p.M237V|c.709A>G|10,BUFFER|p.Y236delY|c.706_708delTAC|4,BUFFER|p.Y236*|c.708C>G|3,BUFFER|p.Y143*|c.429C>A|4,BUFFER|p.Y236*|c.708C>A|4,BUFFER|p.Y236*|c.708C>A|4,BUFFER|p.Y236*|c.708C>A|11,BUFFER|p.Y236C|c.707A>G|5,BUFFER|p.Y236C|c.707A>G|4,BUFFER|p.Y236C|c.707A>G|11,BUFFER|p.Y236C|c.707A>G|55,BUFFER|p.Y143C|c.428A>G|12,BUFFER|p.Y236C|c.707A>G|11,BUFFER|p.Y236S|c.707A>C|4,BUFFER|p.Y236N|c.706T>A|3,BUFFER|p.Y236N|c.706T>A|16,BUFFER|p.Y236D|c.706T>G|7,BUFFER|p.Y236H|c.706T>C|10,BUFFER|p.Y143N|c.427T>A|3,BUFFER|p.Y236N|c.706T>A|3,BUFFER|p.N235T|c.704A>C|3,BUFFER|p.N235I|c.704A>T|4,BUFFER|p.N235S|c.704A>G|15,BUFFER|p.N235D|c.703A>G|7,BUFFER|p.Y234delY|c.700_702delTAC|3,BUFFER|p.Y234*|c.702C>A|4,BUFFER|p.Y234S|c.701A>C|6,BUFFER|p.Y234C|c.701A>G|11,BUFFER|p.Y141C|c.422A>G|21,BUFFER|p.Y234C|c.701A>G|89,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|6,BUFFER|p.Y234H|c.700T>C|6,BUFFER|p.Y234H|c.700T>C|23,BUFFER|p.Y141H|c.421T>C|6,BUFFER|p.Y234N|c.700T>A|14,BUFFER|p.Y234H|c.700T>C|6,BUFFER|p.Y234D|c.700T>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs587782664,CM011014,TP53_g.13348G>C,TP53_g.13348G>T,TP53_g.13348G>A,TP53_g.13348del,COSM10834,COSM44415,COSM11063,COSM99648,COSM301403,COSM1189384,COSM99646,COSM301402,COSM1189385,COSM3378348,COSM3378444,COSM1640834,COSM1640835,COSM301404,COSM99647,COSM1189386	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Met237Ile,ENST00000413465,;TP53,missense_variant,p.Met237Ile,ENST00000420246,;TP53,missense_variant,p.Met237Ile,ENST00000269305,;TP53,missense_variant,p.Met105Ile,ENST00000509690,;TP53,missense_variant,p.Met237Ile,ENST00000359597,;TP53,missense_variant,p.Met144Ile,ENST00000514944,;TP53,missense_variant,p.Met237Ile,ENST00000445888,;TP53,missense_variant,p.Met237Ile,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	901	81	48	SUCCESS
TBC1D16	125058	.	GRCh37	17	77921558	77921558	+	synonymous_variant	Silent	SNP	C	C	T	rs755415779	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	33	136	0	ENST00000310924.2:c.1614G>A	p.Ala538=	p.A538=	ENST00000310924	NM_019020.3	538	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11766.1	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCGCCAC	NONE	byFrequency	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Gene3D:2qq8A02,Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF191,PROSITE_profiles:PS50086	.	.	ENSP00000309794	.	9/12	.	.	.	.	.	.	.	.	rs755415779,COSM196281	9/12	PASS	ENST00000310924	Transcript	.	.	ENSG00000167291	28356	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TBC16_HUMAN	TBC1D16	HGNC	I3L0U9_HUMAN,B9A6L7_HUMAN	.	UPI000006DDA6	SNV	TBC1D16,synonymous_variant,p.%3D,ENST00000570373,;TBC1D16,synonymous_variant,p.%3D,ENST00000573782,;TBC1D16,synonymous_variant,p.%3D,ENST00000574241,;TBC1D16,synonymous_variant,p.%3D,ENST00000310924,;TBC1D16,synonymous_variant,p.%3D,ENST00000340848,;TBC1D16,synonymous_variant,p.%3D,ENST00000572862,;TBC1D16,synonymous_variant,p.%3D,ENST00000574427,;TBC1D16,synonymous_variant,p.%3D,ENST00000576768,;TBC1D16,downstream_gene_variant,,ENST00000571872,;	1730	136	117	SUCCESS
PER1	5187	.	GRCh37	17	8046658	8046694	+	frameshift_variant	Frame_Shift_Del	DEL	CAGCAGCCCCCTCAGCACGGGGGAGCTCCTCCAGCTG	CAGCAGCCCCCTCAGCACGGGGGAGCTCCTCCAGCTG	-	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	CAGCAGCCCCCTCAGCACGGGGGAGCTCCTCCAGCTG	CAGCAGCCCCCTCAGCACGGGGGAGCTCCTCCAGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	172	0	ENST00000317276.4:c.2962_2998del	p.Gln988LeufsTer122	p.Q988Lfs*122	ENST00000317276	NM_002616.2	988	CAGCTGGAGGAGCTCCCCCGTGCTGAGGGGGCTGCTGtt/tt	0	.	.	.	.	.	-	QLEELPRAEGAAV/X	protein_coding	YES	CCDS11131.1	2962-2998	VARSCANI*|PINDEL	.	CTGCAACAGCAGCCCCCTCAGCACGGGGGAGCTCCTCCAGCTGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	deletion	PER1,frameshift_variant,p.Gln988LeufsTer122,ENST00000317276,;PER1,frameshift_variant,p.Gln965LeufsTer122,ENST00000581082,;PER1,downstream_gene_variant,,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000583559,;PER1,downstream_gene_variant,,ENST00000578089,;PER1,non_coding_transcript_exon_variant,,ENST00000579098,;PER1,intron_variant,,ENST00000582719,;PER1,downstream_gene_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000578950,;PER1,downstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000585284,;	3200-3236	172	114	SUCCESS
PER1	5187	.	GRCh37	17	8049299	8049299	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	62	0	ENST00000317276.4:c.2195del	p.Gly732GlufsTer12	p.G732Efs*12	ENST00000317276	NM_002616.2	732	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS11131.1	2195	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTCTCCCACA	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	deletion	PER1,frameshift_variant,p.Gly732GlufsTer12,ENST00000317276,;PER1,frameshift_variant,p.Gly712GlufsTer12,ENST00000581082,;PER1,frameshift_variant,p.Gly716GlufsTer12,ENST00000354903,;PER1,frameshift_variant,p.Gly15GlufsTer12,ENST00000583559,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,downstream_gene_variant,,ENST00000577253,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,non_coding_transcript_exon_variant,,ENST00000578089,;PER1,frameshift_variant,p.Gly732GlufsTer12,ENST00000582719,;PER1,intron_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000585284,;PER1,upstream_gene_variant,,ENST00000579098,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,downstream_gene_variant,,ENST00000578223,;	2433	62	62	SUCCESS
PER1	5187	.	GRCh37	17	8053380	8053380	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	81	0	ENST00000317276.4:c.438G>C	p.Lys146Asn	p.K146N	ENST00000317276	NM_002616.2	146	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS11131.1	438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGCTTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	SNV	PER1,missense_variant,p.Lys146Asn,ENST00000317276,;PER1,missense_variant,p.Lys146Asn,ENST00000581082,;PER1,missense_variant,p.Lys130Asn,ENST00000354903,;PER1,missense_variant,p.Lys113Asn,ENST00000577253,;PER1,missense_variant,p.Lys146Asn,ENST00000581703,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,upstream_gene_variant,,ENST00000583559,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Lys146Asn,ENST00000581395,;PER1,missense_variant,p.Lys146Asn,ENST00000582719,;PER1,non_coding_transcript_exon_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000578223,;	676	81	38	SUCCESS
METRNL	284207	.	GRCh37	17	81052084	81052084	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1355436892	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	39	189	0	ENST00000320095.7:c.700C>T	p.Arg234Trp	p.R234W	ENST00000320095	NM_001004431.1	234	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32779.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATCGGCAG	NONE	.	.	.	.	.	ENSP00000315731	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000320095	Transcript	.	.	ENSG00000176845	27584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	METRL_HUMAN	METRNL	HGNC	Q147U6_HUMAN,B3KSJ5_HUMAN	.	UPI000002F84C	SNV	METRNL,missense_variant,p.Arg234Trp,ENST00000320095,;METRNL,missense_variant,p.Arg152Trp,ENST00000570778,;METRNL,missense_variant,p.Arg31Trp,ENST00000574053,;METRNL,missense_variant,p.Arg152Trp,ENST00000571814,;METRNL,non_coding_transcript_exon_variant,,ENST00000571940,;	825	189	135	SUCCESS
TTC39C	125488	.	GRCh37	18	21660787	21660787	+	synonymous_variant	Silent	SNP	G	G	A	rs746739170	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	91	0	ENST00000317571.3:c.699G>A	p.Val233=	p.V233=	ENST00000317571	NM_001135993.1	233	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45839.1	699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGCCCCC	NONE	.	.	Pfam_domain:PF10300,hmmpanther:PTHR31859	.	.	ENSP00000323645	.	5/14	.	.	.	.	.	.	.	.	rs746739170,COSM1288691,COSM1288690	5/14	PASS	ENST00000317571	Transcript	.	.	ENSG00000168234	26595	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	TT39C_HUMAN	TTC39C	HGNC	J3QKX7_HUMAN	.	UPI0000EF8875	SNV	TTC39C,synonymous_variant,p.%3D,ENST00000317571,;TTC39C,synonymous_variant,p.%3D,ENST00000304621,;RP11-403A21.3,intron_variant,,ENST00000578443,;TTC39C,downstream_gene_variant,,ENST00000578150,;	935	91	98	SUCCESS
ZNF521	25925	.	GRCh37	18	22805355	22805355	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	24	119	0	ENST00000361524.3:c.2527G>T	p.Gly843Ter	p.G843*	ENST00000361524	NM_015461.2	843	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS32806.1	2527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCACAGT	NONE	.	.	hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,stop_gained,p.Gly843Ter,ENST00000538137,;ZNF521,stop_gained,p.Gly623Ter,ENST00000584787,;ZNF521,stop_gained,p.Gly843Ter,ENST00000361524,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,stop_gained,p.Gly843Ter,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	2676	119	108	SUCCESS
CCDC178	374864	.	GRCh37	18	30804869	30804869	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	66	0	ENST00000383096.3:c.1688C>A	p.Ala563Glu	p.A563E	ENST00000383096		563	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS42424.1	1688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTGCCTGG	NONE	.	.	.	.	.	ENSP00000372576	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.53)	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Ala563Glu,ENST00000579947,;CCDC178,missense_variant,p.Ala110Glu,ENST00000581524,;CCDC178,missense_variant,p.Ala563Glu,ENST00000406524,;CCDC178,missense_variant,p.Ala563Glu,ENST00000403303,;CCDC178,missense_variant,p.Ala563Glu,ENST00000383096,;CCDC178,missense_variant,p.Ala563Glu,ENST00000402325,;CCDC178,missense_variant,p.Ala563Glu,ENST00000300227,;CCDC178,missense_variant,p.Ala563Glu,ENST00000583930,;CCDC178,intron_variant,,ENST00000579916,;	1871	66	57	SUCCESS
NOL4	8715	.	GRCh37	18	31709985	31709985	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	98	0	ENST00000261592.5:c.265-1G>T		p.X89_splice	ENST00000261592	NM_001198546.1	89		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11907.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCTGGAA	NONE	.	.	.	.	.	ENSP00000261592	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261592	Transcript	.	.	ENSG00000101746	7870	.	.	HIGH	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL4_HUMAN	NOL4	HGNC	.	.	UPI000059D504	SNV	NOL4,splice_acceptor_variant,,ENST00000261592,;NOL4,splice_acceptor_variant,,ENST00000589544,;NOL4,splice_acceptor_variant,,ENST00000269185,;NOL4,splice_acceptor_variant,,ENST00000538587,;NOL4,splice_acceptor_variant,,ENST00000535475,;NOL4,splice_acceptor_variant,,ENST00000590712,;NOL4,splice_acceptor_variant,,ENST00000587953,;NOL4,splice_acceptor_variant,,ENST00000587971,;NOL4,splice_acceptor_variant,,ENST00000588280,;NOL4,splice_acceptor_variant,,ENST00000586314,;NOL4,splice_acceptor_variant,,ENST00000591917,;NOL4,splice_acceptor_variant,,ENST00000586309,;	.	98	81	SUCCESS
ST8SIA5	29906	.	GRCh37	18	44260286	44260293	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	TGACCAGG	TGACCAGG	-	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	TGACCAGG	TGACCAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	97	0	ENST00000315087.7:c.843_850del	p.Tyr281Ter	p.Y281*	ENST00000315087	NM_013305.4	281	taCCTGGTCAac/taac	0	.	.	.	.	.	-	YLVN/*	protein_coding	YES	CCDS11930.1	843-850	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACGTTGACCAGGTACTG	NONE	.	.	hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF4,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000321343	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000315087	Transcript	.	.	ENSG00000101638	17827	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIA8E_HUMAN	ST8SIA5	HGNC	B3KSU2_HUMAN	.	UPI000013C72F	deletion	ST8SIA5,stop_gained,p.Tyr317Ter,ENST00000538168,;ST8SIA5,stop_gained,p.Tyr281Ter,ENST00000315087,;ST8SIA5,stop_gained,p.Tyr250Ter,ENST00000536490,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,downstream_gene_variant,,ENST00000587428,;	1504-1511	97	79	SUCCESS
CDH7	1005	.	GRCh37	18	63530227	63530227	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	32	0	ENST00000323011.3:c.1864+74T>A		p.*622*	ENST00000323011	NM_033646.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11993.1	.	MUTECT|MUSE	.	TATCTTCTCCA	NONE	.	.	.	.	.	ENSP00000381058	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,3_prime_UTR_variant,,ENST00000536984,;CDH7,intron_variant,,ENST00000397968,;CDH7,intron_variant,,ENST00000323011,;RP11-389J22.1,upstream_gene_variant,,ENST00000581987,;	.	32	39	SUCCESS
CDH7	1005	.	GRCh37	18	63547822	63547822	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	49	198	1	ENST00000323011.3:c.2050A>T	p.Arg684Trp	p.R684W	ENST00000323011	NM_033646.1	684	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11993.1	2050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGAGGGAT	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Pfam_domain:PF01049	.	.	ENSP00000381058	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Arg684Trp,ENST00000397968,;CDH7,missense_variant,p.Arg684Trp,ENST00000323011,;	2476	199	201	SUCCESS
NFATC1	4772	.	GRCh37	18	77170794	77170794	+	synonymous_variant	Silent	SNP	G	G	T	rs571313182	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	55	0	ENST00000427363.2:c.519G>T	p.Pro173=	p.P173=	ENST00000427363		173	ccG/ccT	0	.	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS32850.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGGCCAG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF5	A:0	.	ENSP00000327850	A:0	2/10	.	.	.	.	.	.	.	.	rs571313182	2/10	PASS	ENST00000329101	Transcript	.	A:0.0002	ENSG00000131196	7775	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	NFAC1_HUMAN	NFATC1	HGNC	F5H4S8_HUMAN	.	UPI000002AF02	SNV	NFATC1,synonymous_variant,p.%3D,ENST00000542384,;NFATC1,synonymous_variant,p.%3D,ENST00000586434,;NFATC1,synonymous_variant,p.%3D,ENST00000253506,;NFATC1,synonymous_variant,p.%3D,ENST00000329101,;NFATC1,synonymous_variant,p.%3D,ENST00000592223,;NFATC1,synonymous_variant,p.%3D,ENST00000427363,;NFATC1,synonymous_variant,p.%3D,ENST00000318065,;NFATC1,synonymous_variant,p.%3D,ENST00000591814,;NFATC1,synonymous_variant,p.%3D,ENST00000587635,;NFATC1,intron_variant,,ENST00000545796,;NFATC1,intron_variant,,ENST00000397790,;NFATC1,intron_variant,,ENST00000590313,;	536	55	40	SUCCESS
PTPRM	5797	.	GRCh37	18	8253274	8253274	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs750190733	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	151	0	ENST00000332175.8:c.2577T>A	p.His859Gln	p.H859Q	ENST00000332175	NM_002845.3	859	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS58613.1	2616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCATACTTA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206	.	.	ENSP00000463325	.	19/33	.	.	.	.	.	.	.	.	rs750190733	19/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	tolerated(0.14)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.His859Gln,ENST00000332175,;PTPRM,missense_variant,p.His873Gln,ENST00000400060,;PTPRM,missense_variant,p.His646Gln,ENST00000444013,;PTPRM,missense_variant,p.His797Gln,ENST00000400053,;PTPRM,missense_variant,p.His872Gln,ENST00000580170,;PTPRM,intron_variant,,ENST00000577468,;PTPRM,non_coding_transcript_exon_variant,,ENST00000580838,;PTPRM,downstream_gene_variant,,ENST00000578093,;PTPRM,intron_variant,,ENST00000577827,;	3653	152	150	SUCCESS
PTPRM	5797	.	GRCh37	18	8370961	8370961	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs551645103	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	101	0	ENST00000332175.8:c.3089A>T	p.Glu1030Val	p.E1030V	ENST00000332175	NM_002845.3	1030	gAa/gTa	0	.	T:0	.	T:0	.	T	E/V	protein_coding	YES	CCDS58613.1	3128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGAACTAC	NONE	by1000G	.	Superfamily_domains:SSF52799,SMART_domains:SM00194,Gene3D:3.90.190.10,Pfam_domain:PF00102,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50055	T:0.001	.	ENSP00000463325	T:0	24/33	.	.	.	.	.	.	.	.	rs551645103	24/33	PASS	ENST00000580170	Transcript	.	T:0.0002	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.525)	T:0	deleterious(0)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.Glu1030Val,ENST00000332175,;PTPRM,missense_variant,p.Glu11Val,ENST00000583153,;PTPRM,missense_variant,p.Glu1044Val,ENST00000400060,;PTPRM,missense_variant,p.Glu968Val,ENST00000400053,;PTPRM,missense_variant,p.Glu817Val,ENST00000444013,;PTPRM,missense_variant,p.Glu1043Val,ENST00000580170,;RP11-789C17.3,upstream_gene_variant,,ENST00000580491,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	4165	101	90	SUCCESS
RAVER1	125950	.	GRCh37	19	10439536	10439536	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	127	0	ENST00000293677.6:c.589T>C	p.Tyr197His	p.Y197H	ENST00000293677	NM_133452.2	197	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS45960.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTACTCAG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000293677	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000293677	Transcript	.	.	ENSG00000161847	30296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	RAVER1	HGNC	K7EQG2_HUMAN,E9PAU2_HUMAN	.	UPI0000E042A4	SNV	RAVER1,missense_variant,p.Tyr197His,ENST00000293677,;ICAM3,downstream_gene_variant,,ENST00000592945,;ICAM3,downstream_gene_variant,,ENST00000589261,;ICAM3,downstream_gene_variant,,ENST00000160262,;RAVER1,3_prime_UTR_variant,,ENST00000591969,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;ICAM3,downstream_gene_variant,,ENST00000587992,;ICAM3,downstream_gene_variant,,ENST00000589900,;	671	127	101	SUCCESS
C19orf80	0	.	GRCh37	19	11352206	11352206	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	100	0	ENST00000252453.8:c.545A>G	p.His182Arg	p.H182R	ENST00000252453	NM_018687.6	182	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS54220.1	545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCATCGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21463	.	.	ENSP00000252453	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000252453	Transcript	.	.	ENSG00000130173	24933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.16)	.	BETAT_HUMAN	C19orf80	HGNC	K7EIY2_HUMAN	.	UPI000003F538	SNV	C19orf80,missense_variant,p.His182Arg,ENST00000252453,;C19orf80,missense_variant,p.His42Arg,ENST00000587543,;C19orf80,missense_variant,p.His83Arg,ENST00000591200,;DOCK6,intron_variant,,ENST00000294618,;DOCK6,upstream_gene_variant,,ENST00000590680,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000591750,;	564	100	77	SUCCESS
ZNF442	79973	.	GRCh37	19	12461479	12461479	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	75	0	ENST00000242804.4:c.920C>T	p.Ser307Phe	p.S307F	ENST00000242804	NM_030824.2	307	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS12271.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGAACTG	BUFFER|p.R309Q|c.926G>A|5	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000242804	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000242804	Transcript	.	.	ENSG00000198342	20877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.2)	.	ZN442_HUMAN	ZNF442	HGNC	C9JC15_HUMAN,B4DJ48_HUMAN	.	UPI000006D14F	SNV	ZNF442,missense_variant,p.Ser238Phe,ENST00000438182,;ZNF442,missense_variant,p.Ser307Phe,ENST00000242804,;ZNF442,downstream_gene_variant,,ENST00000424168,;CTD-3105H18.13,upstream_gene_variant,,ENST00000563695,;ZNF442,downstream_gene_variant,,ENST00000462995,;	1503	75	92	SUCCESS
TECR	9524	.	GRCh37	19	14674897	14674897	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766346435	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	38	0	ENST00000215567.5:c.371A>G	p.His124Arg	p.H124R	ENST00000215567	NM_138501.5	124	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS12313.1	371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCATACAG	NONE	.	.	hmmpanther:PTHR10556:SF31,hmmpanther:PTHR10556	.	.	ENSP00000215567	.	6/13	.	.	.	.	.	.	.	.	rs766346435	6/13	PASS	ENST00000215567	Transcript	1	.	ENSG00000099797	4551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	tolerated(0.09)	.	TECR_HUMAN	TECR	HGNC	M0R0N5_HUMAN,M0QXS1_HUMAN,B4DR74_HUMAN	.	UPI00000534C6	SNV	TECR,missense_variant,p.His139Arg,ENST00000436007,;TECR,missense_variant,p.His124Arg,ENST00000215567,;TECR,5_prime_UTR_variant,,ENST00000596073,;TECR,5_prime_UTR_variant,,ENST00000594545,;TECR,5_prime_UTR_variant,,ENST00000600083,;TECR,5_prime_UTR_variant,,ENST00000598298,;NDUFB7,downstream_gene_variant,,ENST00000215565,;TECR,upstream_gene_variant,,ENST00000601187,;TECR,downstream_gene_variant,,ENST00000598715,;TECR,downstream_gene_variant,,ENST00000596164,;TECR,3_prime_UTR_variant,,ENST00000598333,;TECR,3_prime_UTR_variant,,ENST00000598987,;TECR,non_coding_transcript_exon_variant,,ENST00000601461,;TECR,non_coding_transcript_exon_variant,,ENST00000600395,;TECR,non_coding_transcript_exon_variant,,ENST00000593637,;TECR,non_coding_transcript_exon_variant,,ENST00000597607,;TECR,non_coding_transcript_exon_variant,,ENST00000596953,;TECR,non_coding_transcript_exon_variant,,ENST00000594807,;TECR,downstream_gene_variant,,ENST00000598918,;TECR,upstream_gene_variant,,ENST00000594958,;TECR,upstream_gene_variant,,ENST00000598408,;TECR,downstream_gene_variant,,ENST00000600076,;TECR,upstream_gene_variant,,ENST00000599101,;TECR,upstream_gene_variant,,ENST00000601350,;TECR,upstream_gene_variant,,ENST00000593775,;TECR,downstream_gene_variant,,ENST00000601652,;NDUFB7,downstream_gene_variant,,ENST00000593353,;	508	38	30	SUCCESS
RAB8A	4218	.	GRCh37	19	16222682	16222682	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	60	0	ENST00000300935.3:c.-30C>G		p.*10*	ENST00000300935	NM_005370.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12339.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCCGCAC	NONE	.	.	.	.	.	ENSP00000300935	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000300935	Transcript	.	.	ENSG00000167461	7007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB8A_HUMAN	RAB8A	HGNC	.	.	UPI0000001261	SNV	RAB8A,5_prime_UTR_variant,,ENST00000300935,;RAB8A,upstream_gene_variant,,ENST00000586682,;RAB8A,upstream_gene_variant,,ENST00000588105,;RAB8A,upstream_gene_variant,,ENST00000590899,;RAB8A,upstream_gene_variant,,ENST00000587156,;RAB8A,upstream_gene_variant,,ENST00000589697,;	244	60	60	SUCCESS
ZNF253	56242	.	GRCh37	19	20003367	20003367	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	44	212	0	ENST00000589717.1:c.1311A>T	p.Ser437=	p.S437=	ENST00000589717	NM_021047.2	437	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS42532.1	1311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCAACTCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000468720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,synonymous_variant,p.%3D,ENST00000355650,;ZNF253,synonymous_variant,p.%3D,ENST00000589717,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,intron_variant,,ENST00000585571,;	1403	212	199	SUCCESS
ZNF93	81931	.	GRCh37	19	20044671	20044671	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	63	0	ENST00000343769.5:c.907C>T	p.His303Tyr	p.H303Y	ENST00000343769	NM_031218.3	303	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS32973.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAACATAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF270,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000342002	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343769	Transcript	.	.	ENSG00000184635	13169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ZNF93_HUMAN	ZNF93	HGNC	K7EPV7_HUMAN,B4DJ46_HUMAN	.	UPI00002263B9	SNV	ZNF93,missense_variant,p.His303Tyr,ENST00000343769,;AC007204.1,downstream_gene_variant,,ENST00000595282,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,;	935	63	47	SUCCESS
FCGBP	8857	.	GRCh37	19	40421508	40421508	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	21	138	0	ENST00000221347.6:c.2413G>T	p.Gly805Cys	p.G805C	ENST00000221347	NM_003890.2	805	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS12546.1	2413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCCTGGA	NONE	.	.	hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Gene3D:2.10.25.10,SMART_domains:SM00214	.	.	ENSP00000221347	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Gly805Cys,ENST00000221347,;	2421	139	108	SUCCESS
EGLN2	112398	.	GRCh37	19	41313170	41313170	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	55	0	ENST00000303961.4:c.1091A>G	p.Tyr364Cys	p.Y364C	ENST00000303961	NM_080732.3	364	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12567.1	1091	RADIA|MUTECT|MUSE	.	AGCCTATGCCA	NONE	.	.	PROSITE_profiles:PS51471,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF6,Pfam_domain:PF13640,SMART_domains:SM00702	.	.	ENSP00000469686	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000593726	Transcript	.	.	ENSG00000269858	14660	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	EGLN2_HUMAN	EGLN2	HGNC	M0R2X9_HUMAN,M0R1W4_HUMAN,M0R1A3_HUMAN,M0R110_HUMAN,M0R0Z6_HUMAN,M0R035_HUMAN,M0QXR0_HUMAN,M0QXM8_HUMAN	.	UPI0000050C8F	SNV	EGLN2,missense_variant,p.Tyr364Cys,ENST00000406058,;EGLN2,missense_variant,p.Tyr85Cys,ENST00000597746,;EGLN2,missense_variant,p.Tyr364Cys,ENST00000303961,;EGLN2,missense_variant,p.Tyr82Cys,ENST00000594140,;EGLN2,missense_variant,p.Tyr364Cys,ENST00000593726,;EGLN2,missense_variant,p.Tyr42Cys,ENST00000595621,;EGLN2,missense_variant,p.Tyr8Cys,ENST00000595051,;RAB4B-EGLN2,3_prime_UTR_variant,,ENST00000594136,;EGLN2,non_coding_transcript_exon_variant,,ENST00000602166,;EGLN2,non_coding_transcript_exon_variant,,ENST00000593477,;EGLN2,non_coding_transcript_exon_variant,,ENST00000593445,;EGLN2,non_coding_transcript_exon_variant,,ENST00000599579,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2T2P,downstream_gene_variant,,ENST00000432607,;	2119	55	50	SUCCESS
LIPE	3991	.	GRCh37	19	42909571	42909571	+	synonymous_variant	Silent	SNP	C	C	T	rs148306456	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	81	0	ENST00000244289.4:c.2508G>A	p.Gly836=	p.G836=	ENST00000244289	NM_005357.2	836	ggG/ggA	0	A:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS12607.1	2508	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGCCCACT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3	.	A:0.0002	ENSP00000244289	.	8/10	.	.	.	.	.	.	.	.	rs148306456	8/10	PASS	ENST00000244289	Transcript	.	.	ENSG00000079435	6621	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIPS_HUMAN	LIPE	HGNC	M0QXM5_HUMAN,M0QXB1_HUMAN	.	UPI000013CB66	SNV	LIPE,synonymous_variant,p.%3D,ENST00000597620,;LIPE,synonymous_variant,p.%3D,ENST00000244289,;LIPE,synonymous_variant,p.%3D,ENST00000599918,;LIPE,downstream_gene_variant,,ENST00000597001,;LIPE,downstream_gene_variant,,ENST00000599211,;LIPE,downstream_gene_variant,,ENST00000599783,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE,downstream_gene_variant,,ENST00000602000,;LIPE,non_coding_transcript_exon_variant,,ENST00000600224,;	2785	81	74	SUCCESS
SHANK1	50944	.	GRCh37	19	51175305	51175305	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	74	0	ENST00000293441.1:c.2644C>T	p.Pro882Ser	p.P882S	ENST00000293441	NM_016148.2	882	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12799.1	2644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGTCCTG	NONE	.	.	hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	21/23	.	.	.	.	.	.	.	.	COSM168347	21/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.234)	.	.	1	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,missense_variant,p.Pro890Ser,ENST00000391814,;SHANK1,missense_variant,p.Pro269Ser,ENST00000391813,;SHANK1,missense_variant,p.Pro873Ser,ENST00000359082,;SHANK1,missense_variant,p.Pro882Ser,ENST00000293441,;SYT3,upstream_gene_variant,,ENST00000544769,;	2663	75	89	SUCCESS
NLRP12	91662	.	GRCh37	19	54313287	54313287	+	synonymous_variant	Silent	SNP	G	G	A	rs753966022	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	63	0	ENST00000324134.6:c.1626C>T	p.Thr542=	p.T542=	ENST00000324134	NM_144687.3	542	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12864.1	1626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGGTCAC	NONE	.	.	hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	rs753966022	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,synonymous_variant,p.%3D,ENST00000535162,;NLRP12,synonymous_variant,p.%3D,ENST00000391775,;NLRP12,synonymous_variant,p.%3D,ENST00000354278,;NLRP12,synonymous_variant,p.%3D,ENST00000391773,;NLRP12,synonymous_variant,p.%3D,ENST00000324134,;NLRP12,synonymous_variant,p.%3D,ENST00000391772,;NLRP12,synonymous_variant,p.%3D,ENST00000345770,;NLRP12,synonymous_variant,p.%3D,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	1795	63	64	SUCCESS
RPL36	25873	.	GRCh37	19	5690350	5690350	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	41	0	ENST00000347512.3:c.-3+12C>G		p.*1*	ENST00000347512	NM_033643.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12147.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTTTCCCGCA	NONE	.	.	.	.	.	ENSP00000464342	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000577222	Transcript	.	.	ENSG00000130255	13631	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RL36_HUMAN	RPL36	HGNC	Q9BYF3_HUMAN	.	UPI00000019AB	SNV	RPL36,5_prime_UTR_variant,,ENST00000579649,;RPL36,5_prime_UTR_variant,,ENST00000394580,;RPL36,intron_variant,,ENST00000347512,;RPL36,intron_variant,,ENST00000579446,;RPL36,intron_variant,,ENST00000582463,;RPL36,intron_variant,,ENST00000577222,;LONP1,downstream_gene_variant,,ENST00000590729,;LONP1,downstream_gene_variant,,ENST00000360614,;HSD11B1L,downstream_gene_variant,,ENST00000342970,;HSD11B1L,downstream_gene_variant,,ENST00000577917,;HSD11B1L,downstream_gene_variant,,ENST00000339423,;HSD11B1L,downstream_gene_variant,,ENST00000578046,;HSD11B1L,downstream_gene_variant,,ENST00000581521,;HSD11B1L,downstream_gene_variant,,ENST00000581893,;HSD11B1L,downstream_gene_variant,,ENST00000583928,;LONP1,downstream_gene_variant,,ENST00000593119,;HSD11B1L,downstream_gene_variant,,ENST00000301382,;LONP1,downstream_gene_variant,,ENST00000540670,;HSD11B1L,downstream_gene_variant,,ENST00000577257,;LONP1,downstream_gene_variant,,ENST00000585374,;LONP1,downstream_gene_variant,,ENST00000589473,;HSD11B1L,downstream_gene_variant,,ENST00000423665,;HSD11B1L,downstream_gene_variant,,ENST00000579559,;HSD11B1L,downstream_gene_variant,,ENST00000422535,;HSD11B1L,downstream_gene_variant,,ENST00000411793,;HSD11B1L,downstream_gene_variant,,ENST00000581773,;RPL36,downstream_gene_variant,,ENST00000582380,;RPL36,intron_variant,,ENST00000590786,;LONP1,downstream_gene_variant,,ENST00000590558,;HSD11B1L,downstream_gene_variant,,ENST00000578832,;HSD11B1L,downstream_gene_variant,,ENST00000579562,;HSD11B1L,downstream_gene_variant,,ENST00000584904,;HSD11B1L,downstream_gene_variant,,ENST00000581423,;LONP1,downstream_gene_variant,,ENST00000587552,;HSD11B1L,downstream_gene_variant,,ENST00000577920,;HSD11B1L,downstream_gene_variant,,ENST00000582346,;HSD11B1L,downstream_gene_variant,,ENST00000578167,;	.	41	28	SUCCESS
EVI5L	115704	.	GRCh37	19	7923102	7923102	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1348950414	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	31	170	0	ENST00000270530.4:c.1226C>T	p.Ala409Val	p.A409V	ENST00000270530	NM_145245.3	409	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS54209.1	1259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGGAGG	NONE	.	.	hmmpanther:PTHR22957:SF197,hmmpanther:PTHR22957	.	.	ENSP00000445905	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000538904	Transcript	.	.	ENSG00000142459	30464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0.01)	.	EVI5L_HUMAN	EVI5L	HGNC	.	.	UPI00019145BF	SNV	EVI5L,missense_variant,p.Ala420Val,ENST00000538904,;EVI5L,missense_variant,p.Ala409Val,ENST00000270530,;EVI5L,upstream_gene_variant,,ENST00000601766,;EVI5L,downstream_gene_variant,,ENST00000599036,;EVI5L,non_coding_transcript_exon_variant,,ENST00000600802,;EVI5L,non_coding_transcript_exon_variant,,ENST00000601984,;	1259	170	135	SUCCESS
MAP2K7	5609	.	GRCh37	19	7975602	7975602	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	98	0	ENST00000397979.3:c.589G>T	p.Glu197Ter	p.E197*	ENST00000397979	NM_145185.2	197	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42491.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGAGCTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF3,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000381066	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000397979	Transcript	.	.	ENSG00000076984	6847	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP2K7_HUMAN	MAP2K7	HGNC	D6W660_HUMAN	.	UPI000012F494	SNV	MAP2K7,stop_gained,p.Glu239Ter,ENST00000545011,;MAP2K7,stop_gained,p.Glu197Ter,ENST00000397979,;MAP2K7,stop_gained,p.Glu197Ter,ENST00000397981,;MAP2K7,stop_gained,p.Glu213Ter,ENST00000397983,;CTD-3193O13.13,downstream_gene_variant,,ENST00000595655,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000468058,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000465324,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000494348,;MAP2K7,downstream_gene_variant,,ENST00000475022,;MAP2K7,upstream_gene_variant,,ENST00000498118,;	643	98	100	SUCCESS
MUC16	94025	.	GRCh37	19	9058023	9058023	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	35	140	0	ENST00000397910.4:c.29423C>T	p.Pro9808Leu	p.P9808L	ENST00000397910	NM_024690.2	9808	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54212.1	29423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGGATGA	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Pro9808Leu,ENST00000397910,;	29627	140	122	SUCCESS
OR7G3	390883	.	GRCh37	19	9237267	9237267	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	24	144	0	ENST00000305444.2:c.360T>C	p.Tyr120=	p.Y120=	ENST00000305444	NM_001001958.1	120	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS32899.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATCATAGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF20,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302867	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305444	Transcript	.	.	ENSG00000170920	8467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR7G3_HUMAN	OR7G3	HGNC	.	.	UPI0000041C0E	SNV	OR7G3,synonymous_variant,p.%3D,ENST00000305444,;	360	144	109	SUCCESS
CASZ1	54897	.	GRCh37	1	10713269	10713269	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	26	0	ENST00000377022.3:c.2680+165G>T		p.*894*	ENST00000377022	NM_001079843.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41246.1	.	MUTECT|MUSE	.	AGAAACCAACA	NONE	.	.	.	.	.	ENSP00000366221	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377022	Transcript	.	.	ENSG00000130940	26002	.	.	MODIFIER	11/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CASZ1_HUMAN	CASZ1	HGNC	.	.	UPI0000EBB7D6	SNV	CASZ1,intron_variant,,ENST00000344008,;CASZ1,intron_variant,,ENST00000377022,;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;	.	26	25	SUCCESS
C1orf127	148345	.	GRCh37	1	11008817	11008817	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	69	0	ENST00000377004.4:c.1375G>A	p.Ala459Thr	p.A459T	ENST00000377004	NM_001170754.1	459	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS53267.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCTTGCA	NONE	.	.	.	.	.	ENSP00000366203	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000377004	Transcript	.	.	ENSG00000175262	26730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	tolerated(0.11)	.	.	C1orf127	HGNC	G8JLG8_HUMAN,B7ZLG7_HUMAN	.	UPI0001C0B385	SNV	C1orf127,missense_variant,p.Ala411Thr,ENST00000520253,;C1orf127,missense_variant,p.Ala459Thr,ENST00000377004,;C1orf127,missense_variant,p.Ala294Thr,ENST00000418570,;C1orf127,missense_variant,p.Ala292Thr,ENST00000377008,;C1orf127,upstream_gene_variant,,ENST00000468348,;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,;	1375	69	58	SUCCESS
SCNN1D	6339	.	GRCh37	1	1222594	1222594	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	89	0	ENST00000338555.2:c.733C>G	p.Pro245Ala	p.P245A	ENST00000338555		245	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS44037.2	1225	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCCCGCG	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF132,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	.	.	ENSP00000368411	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000379116	Transcript	.	.	ENSG00000162572	10601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	.	SCNN1D	HGNC	A6NNF7_HUMAN	.	UPI0001EF94B5	SNV	SCNN1D,missense_variant,p.Pro245Ala,ENST00000338555,;SCNN1D,missense_variant,p.Pro311Ala,ENST00000325425,;SCNN1D,missense_variant,p.Cys36Trp,ENST00000379099,;SCNN1D,missense_variant,p.Pro245Ala,ENST00000400928,;SCNN1D,missense_variant,p.Pro409Ala,ENST00000379116,;SCNN1D,downstream_gene_variant,,ENST00000470022,;SCNN1D,downstream_gene_variant,,ENST00000467651,;SCNN1D,3_prime_UTR_variant,,ENST00000379101,;	1451	89	74	SUCCESS
CELF3	11189	.	GRCh37	1	151680335	151680335	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	21	97	0	ENST00000290583.4:c.563C>A	p.Ala188Asp	p.A188D	ENST00000290583	NM_001172648.1	188	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1002.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGCCACC	NONE	.	.	hmmpanther:PTHR24622:SF169,hmmpanther:PTHR24622	.	.	ENSP00000290583	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000290583	Transcript	.	.	ENSG00000159409	11967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	tolerated(0.09)	.	CELF3_HUMAN	CELF3	HGNC	Q8IZ97_HUMAN	.	UPI000013F059	SNV	CELF3,missense_variant,p.Ala188Asp,ENST00000290583,;CELF3,missense_variant,p.Ala189Asp,ENST00000420342,;CELF3,missense_variant,p.Ala188Asp,ENST00000290585,;CELF3,missense_variant,p.Ala5Asp,ENST00000392706,;RIIAD1,upstream_gene_variant,,ENST00000326413,;AL589765.1,upstream_gene_variant,,ENST00000442233,;RP11-98D18.1,intron_variant,,ENST00000457548,;CELF3,non_coding_transcript_exon_variant,,ENST00000479893,;CELF3,non_coding_transcript_exon_variant,,ENST00000470688,;CELF3,downstream_gene_variant,,ENST00000478829,;CELF3,non_coding_transcript_exon_variant,,ENST00000419910,;	1357	97	118	SUCCESS
RPTN	126638	.	GRCh37	1	152127436	152127436	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	10	82	0	ENST00000316073.3:c.2139T>G	p.Thr713=	p.T713=	ENST00000316073	NM_001122965.1	713	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41397.1	2139	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAAGTTTG	NONE	.	.	hmmpanther:PTHR22571:SF22,hmmpanther:PTHR22571	.	.	ENSP00000317895	.	3/3	.	.	.	.	.	.	.	.	COSM1264596	3/3	PASS	ENST00000316073	Transcript	.	.	ENSG00000215853	26809	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	RPTN_HUMAN	RPTN	HGNC	Q8N1M7_HUMAN,Q2M1U7_HUMAN	.	UPI00002371E2	SNV	RPTN,synonymous_variant,p.%3D,ENST00000316073,;	2204	82	101	SUCCESS
IVL	3713	.	GRCh37	1	152883199	152883199	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	27	200	0	ENST00000368764.3:c.926A>G	p.Gln309Arg	p.Q309R	ENST00000368764		309	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS1030.1	926	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGATGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.717)	.	deleterious(0.01)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.Gln309Arg,ENST00000368764,;IVL,missense_variant,p.Gln163Arg,ENST00000392667,;	990	200	216	SUCCESS
SHE	126669	.	GRCh37	1	154458426	154458426	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1178481795	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	84	0	ENST00000304760.2:c.1294G>T	p.Ala432Ser	p.A432S	ENST00000304760	NM_001010846.2	432	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS30877.1	1294	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCAATGG	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF29,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000307369	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000304760	Transcript	.	.	ENSG00000169291	27004	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.6)	.	SHE_HUMAN	SHE	HGNC	.	.	UPI00004588E0	SNV	SHE,missense_variant,p.Ala432Ser,ENST00000304760,;SHE,missense_variant,p.Ala130Ser,ENST00000555188,;SHE,missense_variant,p.Ala33Ser,ENST00000486773,;RP11-350G8.9,downstream_gene_variant,,ENST00000607963,;	1381	84	101	SUCCESS
NDUFS2	4720	.	GRCh37	1	161172205	161172205	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs863224104	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	108	0	ENST00000367993.3:c.30C>A	p.Phe10Leu	p.F10L	ENST00000367993	NM_004550.4	10	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS1224.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCCGGGG	NONE	.	.	hmmpanther:PTHR11993,hmmpanther:PTHR11993:SF10	.	.	ENSP00000356972	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000367993	Transcript	.	.	ENSG00000158864	7708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	NDUS2_HUMAN	NDUFS2	HGNC	Q9HC12_HUMAN,Q9HC11_HUMAN,B7Z9L2_HUMAN	.	UPI00001308D2	SNV	NDUFS2,missense_variant,p.Phe10Leu,ENST00000392179,;NDUFS2,missense_variant,p.Phe10Leu,ENST00000367993,;NDUFS2,5_prime_UTR_variant,,ENST00000476409,;ADAMTS4,upstream_gene_variant,,ENST00000367996,;ADAMTS4,upstream_gene_variant,,ENST00000367995,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000496133,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000475570,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000478866,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000496553,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000479948,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000467295,;NDUFS2,upstream_gene_variant,,ENST00000473321,;	478	108	115	SUCCESS
XCL2	6846	.	GRCh37	1	168511286	168511286	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780406644	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	48	0	ENST00000367819.2:c.121C>T	p.Pro41Ser	p.P41S	ENST00000367819	NM_003175.3	41	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1273.1	121	RADIA|MUTECT	.	AACTGGCAGTC	CODON|p.P41P|c.123A>G|6	.	.	hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF3,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR01731	.	.	ENSP00000356793	.	2/3	.	.	.	.	.	.	.	.	rs780406644,COSM1336049	2/3	PASS	ENST00000367819	Transcript	.	.	ENSG00000143185	10646	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.914)	.	deleterious(0.05)	0,1	XCL2_HUMAN	XCL2	HGNC	.	.	UPI0000136343	SNV	XCL2,missense_variant,p.Pro41Ser,ENST00000367819,;RP4-738P11.3,upstream_gene_variant,,ENST00000449688,;	154	48	39	SUCCESS
XCL1	6375	.	GRCh37	1	168549360	168549360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765177999	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	277	21	244	0	ENST00000367818.3:c.121C>T	p.Pro41Ser	p.P41S	ENST00000367818	NM_002995.2	41	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS1274.1	121	MUTECT|MUSE	.	GACTGCCGGTT	NONE	.	.	hmmpanther:PTHR12015:SF3,hmmpanther:PTHR12015,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR01731	.	.	ENSP00000356792	.	2/3	.	.	.	.	.	.	.	.	rs765177999,COSM1336051	2/3	PASS	ENST00000367818	Transcript	.	.	ENSG00000143184	10645	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.995)	.	deleterious(0.05)	0,1	XCL1_HUMAN	XCL1	HGNC	.	.	UPI000013633F	SNV	XCL1,missense_variant,p.Pro41Ser,ENST00000367818,;RP4-738P11.4,upstream_gene_variant,,ENST00000426573,;	286	244	299	SUCCESS
DNM3	26052	.	GRCh37	1	172356293	172356293	+	synonymous_variant	Silent	SNP	C	C	A	rs755324442	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	106	0	ENST00000355305.5:c.2097C>A	p.Ser699=	p.S699=	ENST00000355305		699	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53431.1	2079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCGAGCT	NONE	byFrequency	.	PROSITE_profiles:PS51388,hmmpanther:PTHR11566:SF54,hmmpanther:PTHR11566,Pfam_domain:PF02212,SMART_domains:SM00302	.	.	ENSP00000350876	.	19/21	.	.	.	.	.	.	.	.	rs755324442,COSM1472999	19/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,synonymous_variant,p.%3D,ENST00000367731,;DNM3,synonymous_variant,p.%3D,ENST00000355305,;DNM3,synonymous_variant,p.%3D,ENST00000358155,;DNM3,synonymous_variant,p.%3D,ENST00000485254,;PIGC,intron_variant,,ENST00000489002,;PIGC,intron_variant,,ENST00000475059,;DNM3,upstream_gene_variant,,ENST00000491124,;	2255	106	115	SUCCESS
QSOX1	5768	.	GRCh37	1	180124128	180124128	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs80203913	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	33	0	ENST00000367602.3:c.86C>T	p.Ala29Val	p.A29V	ENST00000367602		29	gCg/gTg	0	.	T:0.059	.	T:0.0086	.	T	A/V	protein_coding	YES	CCDS1337.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACGCGGCCC	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF6	T:0	.	ENSP00000356574	T:0	1/12	.	.	.	.	.	.	.	.	rs80203913	1/12	common_in_exac	ENST00000367602	Transcript	.	T:0.0168	ENSG00000116260	9756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.382)	T:0	deleterious(0.01)	.	QSOX1_HUMAN	QSOX1	HGNC	.	.	UPI000004C63C	SNV	QSOX1,missense_variant,p.Ala29Val,ENST00000367602,;QSOX1,missense_variant,p.Ala29Val,ENST00000367600,;QSOX1,missense_variant,p.Ala29Val,ENST00000392029,;	160	33	28	SUCCESS
NPL	80896	.	GRCh37	1	182797868	182797868	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	16	75	0	ENST00000258317.2:c.788T>A	p.Val263Glu	p.V263E	ENST00000258317		263	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS1350.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGTGTCAC	NONE	.	.	hmmpanther:PTHR12128:SF21,hmmpanther:PTHR12128,Pfam_domain:PF00701,Gene3D:3.20.20.70,PIRSF_domain:PIRSF001365,Superfamily_domains:SSF51569	.	.	ENSP00000356524	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000367553	Transcript	.	.	ENSG00000135838	16781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	NPL_HUMAN	NPL	HGNC	.	.	UPI00000728AB	SNV	NPL,missense_variant,p.Val263Glu,ENST00000258317,;NPL,missense_variant,p.Val244Glu,ENST00000367554,;NPL,missense_variant,p.Val263Glu,ENST00000367553,;NPL,intron_variant,,ENST00000367552,;NPL,intron_variant,,ENST00000367555,;NPL,intron_variant,,ENST00000460179,;NPL,intron_variant,,ENST00000488424,;NPL,downstream_gene_variant,,ENST00000463899,;	832	75	108	SUCCESS
EDEM3	80267	.	GRCh37	1	184723969	184723969	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	15	0	ENST00000318130.8:c.-189G>A		p.*63*	ENST00000318130	NM_025191.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1363.2	.	SOMATICSNIPER|MUTECT|MUSE	.	ACCGCCCTCCG	NONE	.	.	.	.	.	ENSP00000318147	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000318130	Transcript	.	.	ENSG00000116406	16787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EDEM3_HUMAN	EDEM3	HGNC	Q7L2Y5_HUMAN,H0Y498_HUMAN	.	UPI0000470A2B	SNV	EDEM3,5_prime_UTR_variant,,ENST00000318130,;EDEM3,upstream_gene_variant,,ENST00000367512,;EDEM3,non_coding_transcript_exon_variant,,ENST00000474725,;	79	15	13	SUCCESS
ZNF281	23528	.	GRCh37	1	200377850	200377850	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	64	0	ENST00000294740.3:c.984G>T	p.Gln328His	p.Q328H	ENST00000294740	NM_001281293.1	328	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1402.1	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCTGAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF327,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000294740	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000294740	Transcript	.	.	ENSG00000162702	13075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN281_HUMAN	ZNF281	HGNC	B3KMX4_HUMAN	.	UPI000013C345	SNV	ZNF281,missense_variant,p.Gln328His,ENST00000367353,;ZNF281,missense_variant,p.Gln292His,ENST00000367352,;ZNF281,missense_variant,p.Gln328His,ENST00000294740,;	1109	64	87	SUCCESS
CACNA1S	779	.	GRCh37	1	201020120	201020120	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	70	0	ENST00000362061.3:c.4105G>A	p.Ala1369Thr	p.A1369T	ENST00000362061	NM_000069.2	1369	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1407.1	4105	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCACAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	33/44	.	.	.	.	.	.	.	.	.	33/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Ala1350Thr,ENST00000367338,;CACNA1S,missense_variant,p.Ala1369Thr,ENST00000362061,;	4332	70	56	SUCCESS
IGFN1	91156	.	GRCh37	1	201184917	201184917	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	66	0	ENST00000295591.8:c.726G>A	p.Leu242=	p.L242=	ENST00000295591		242	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS53455.1	9246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGAGGAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145	.	.	ENSP00000334714	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,synonymous_variant,p.%3D,ENST00000295591,;IGFN1,synonymous_variant,p.%3D,ENST00000412892,;IGFN1,synonymous_variant,p.%3D,ENST00000335211,;IGFN1,intron_variant,,ENST00000451870,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;IGFN1,intron_variant,,ENST00000437879,;	9376	66	76	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204210607	204210607	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	31	0	ENST00000272203.3:c.2305G>T	p.Gly769Cys	p.G769C	ENST00000272203	NM_014935.4	769	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS1444.1	2305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGCCAACTG	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,missense_variant,p.Gly789Cys,ENST00000414478,;PLEKHA6,missense_variant,p.Gly769Cys,ENST00000272203,;	2622	31	34	SUCCESS
VWA5B1	127731	.	GRCh37	1	20664223	20664223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	57	214	0	ENST00000375079.2:c.2027G>T	p.Ser676Ile	p.S676I	ENST00000375079	NM_001039500.2	676	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	.	2027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGTGACC	NONE	.	.	hmmpanther:PTHR10338:SF109,hmmpanther:PTHR10338	.	.	ENSP00000364220	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000375079	Transcript	.	.	ENSG00000158816	26538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	VW5B1_HUMAN	VWA5B1	HGNC	E9PQ62_HUMAN,E9PP07_HUMAN	.	UPI000066D8B8	SNV	VWA5B1,missense_variant,p.Ser676Ile,ENST00000375079,;VWA5B1,missense_variant,p.Ser676Ile,ENST00000375083,;VWA5B1,missense_variant,p.Ser393Ile,ENST00000289825,;VWA5B1,missense_variant,p.Ser676Ile,ENST00000289815,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,missense_variant,p.Ser103Ile,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,3_prime_UTR_variant,,ENST00000473325,;	2223	214	196	SUCCESS
USH2A	7399	.	GRCh37	1	216371684	216371684	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	55	0	ENST00000307340.3:c.4054T>A	p.Trp1352Arg	p.W1352R	ENST00000307340	NM_206933.2	1352	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS31025.1	4054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGGCAG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	18/72	.	.	.	.	.	.	.	.	.	18/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.234)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Trp1352Arg,ENST00000366942,;USH2A,missense_variant,p.Trp1352Arg,ENST00000366943,;USH2A,missense_variant,p.Trp1352Arg,ENST00000307340,;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	4441	55	91	SUCCESS
OBSCN	84033	.	GRCh37	1	228503672	228503672	+	synonymous_variant	Silent	SNP	C	C	G	rs111746072	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	73	151	0	ENST00000422127.1:c.13137C>G	p.Pro4379=	p.P4379=	ENST00000422127	NM_001098623.2	4379	ccC/ccG	0	T:0.0002	T:0.0008	.	T:0	.	G	P	protein_coding	YES	CCDS59204.1	16008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCCGTGCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	T:0	ENSP00000455507	T:0	61/116	.	.	.	.	.	.	.	.	rs111746072	61/116	PASS	ENST00000570156	Transcript	.	T:0.0002	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	16082	151	202	SUCCESS
OBSCN	84033	.	GRCh37	1	228547311	228547311	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	105	0	ENST00000422127.1:c.18662-2966A>T		p.*6221*	ENST00000422127	NM_001098623.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59204.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCACCACT	NONE	.	.	.	.	.	ENSP00000455507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODIFIER	90/115	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Thr3359Ser,ENST00000366709,;OBSCN,missense_variant,p.Thr6240Ser,ENST00000284548,;OBSCN,3_prime_UTR_variant,,ENST00000474237,;OBSCN,intron_variant,,ENST00000366707,;OBSCN,intron_variant,,ENST00000441106,;OBSCN,intron_variant,,ENST00000422127,;OBSCN,intron_variant,,ENST00000570156,;	.	105	123	SUCCESS
HIST3H2A	0	.	GRCh37	1	228645460	228645460	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	219	58	243	0	ENST00000366695.2:c.59C>T	p.Ser20Leu	p.S20L	ENST00000366695	NM_033445.2	20	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1573.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGACGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000355656	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366695	Transcript	.	.	ENSG00000181218	20507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	H2A3_HUMAN	HIST3H2A	HGNC	.	.	UPI0000073CEF	SNV	HIST3H2A,missense_variant,p.Ser20Leu,ENST00000366695,;HIST3H2BB,upstream_gene_variant,,ENST00000369160,;MIR4666A,upstream_gene_variant,,ENST00000580160,;	101	243	277	SUCCESS
C1orf198	84886	.	GRCh37	1	230979535	230979535	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	66	0	ENST00000366663.5:c.492C>A	p.Ala164=	p.A164=	ENST00000366663	NM_032800.2	164	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1587.1	492	MUTECT|MUSE|VARSCANS	.	TTGAGGGCCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000355623	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000366663	Transcript	.	.	ENSG00000119280	25900	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA198_HUMAN	C1orf198	HGNC	E5RI90_HUMAN,E5RFY9_HUMAN	.	UPI000006F49A	SNV	C1orf198,synonymous_variant,p.%3D,ENST00000523410,;C1orf198,synonymous_variant,p.%3D,ENST00000470540,;C1orf198,synonymous_variant,p.%3D,ENST00000522201,;C1orf198,synonymous_variant,p.%3D,ENST00000366663,;C1orf198,5_prime_UTR_variant,,ENST00000427697,;C1orf198,downstream_gene_variant,,ENST00000519360,;	633	66	49	SUCCESS
PLD5	200150	.	GRCh37	1	242263975	242263975	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	61	0	ENST00000442594.2:c.1073A>T	p.Tyr358Phe	p.Y358F	ENST00000442594	NM_152666.2	358	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS1621.2	1349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATATAAGCT	NONE	.	.	hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Gene3D:3.30.870.10,SMART_domains:SM00155,Superfamily_domains:SSF56024	.	.	ENSP00000440896	.	9/10	.	.	.	.	.	.	.	.	COSM906538,COSM1152050	9/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	1,1	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,missense_variant,p.Tyr450Phe,ENST00000536534,;PLD5,missense_variant,p.Tyr388Phe,ENST00000427495,;PLD5,missense_variant,p.Tyr358Phe,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1591	61	59	SUCCESS
C1orf94	84970	.	GRCh37	1	34684343	34684343	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373403037	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	75	0	ENST00000488417.1:c.1778G>T	p.Gly593Val	p.G593V	ENST00000488417	NM_001134734.1	593	gGg/gTg	0	A:0.0002	.	.	.	.	T	G/V	protein_coding	YES	CCDS44108.1	1778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGGAATG	NONE	byCluster	.	.	.	A:0	ENSP00000435634	.	7/7	.	.	.	.	.	.	.	.	rs373403037,COSM1687435,COSM1687434	7/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	0,1,1	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,missense_variant,p.Gly593Val,ENST00000488417,;C1orf94,missense_variant,p.Gly403Val,ENST00000373374,;	1898	75	71	SUCCESS
MFSD2A	84879	.	GRCh37	1	40431615	40431615	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	34	161	0	ENST00000372809.5:c.682G>T	p.Asp228Tyr	p.D228Y	ENST00000372809	NM_001136493.1	228	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS44118.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGACCTC	NONE	.	.	Gene3D:1.20.1250.20,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29	.	.	ENSP00000361895	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000372809	Transcript	.	.	ENSG00000168389	25897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.01)	.	MFS2A_HUMAN	MFSD2A	HGNC	Q71RE4_HUMAN,E7EPI8_HUMAN	.	UPI0000072562	SNV	MFSD2A,missense_variant,p.Asp215Tyr,ENST00000372811,;MFSD2A,missense_variant,p.Asp59Tyr,ENST00000420632,;MFSD2A,missense_variant,p.Asp213Tyr,ENST00000434861,;MFSD2A,missense_variant,p.Asp228Tyr,ENST00000372809,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000480630,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000469745,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000483824,;MFSD2A,upstream_gene_variant,,ENST00000459917,;MFSD2A,upstream_gene_variant,,ENST00000481612,;MFSD2A,upstream_gene_variant,,ENST00000491515,;RP3-342P20.2,downstream_gene_variant,,ENST00000438210,;	825	161	165	SUCCESS
HIVEP3	59269	.	GRCh37	1	42047556	42047556	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	126	0	ENST00000247584.5:c.2913G>A	p.Leu971=	p.L971=	ENST00000247584		971	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS463.1	2913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCAGGGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,synonymous_variant,p.%3D,ENST00000429157,;HIVEP3,synonymous_variant,p.%3D,ENST00000372584,;HIVEP3,synonymous_variant,p.%3D,ENST00000247584,;HIVEP3,synonymous_variant,p.%3D,ENST00000372583,;HIVEP3,upstream_gene_variant,,ENST00000460604,;	3799	126	114	SUCCESS
PTGER3	5733	.	GRCh37	1	71478137	71478137	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775288258	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	55	0	ENST00000306666.5:c.928A>T	p.Thr310Ser	p.T310S	ENST00000306666	NM_198719.1	310	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS655.1	928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTCTGAT	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00582	.	.	ENSP00000349003	.	2/4	.	.	.	.	.	.	.	.	rs775288258	2/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.593)	.	tolerated(0.18)	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,missense_variant,p.Thr310Ser,ENST00000370932,;PTGER3,missense_variant,p.Thr310Ser,ENST00000306666,;PTGER3,missense_variant,p.Thr310Ser,ENST00000351052,;PTGER3,missense_variant,p.Thr310Ser,ENST00000354608,;PTGER3,missense_variant,p.Thr310Ser,ENST00000356595,;PTGER3,missense_variant,p.Thr310Ser,ENST00000370924,;PTGER3,missense_variant,p.Thr310Ser,ENST00000460330,;PTGER3,missense_variant,p.Thr310Ser,ENST00000370931,;PTGER3,missense_variant,p.Thr310Ser,ENST00000414819,;PTGER3,missense_variant,p.Thr310Ser,ENST00000361210,;PTGER3,missense_variant,p.Thr310Ser,ENST00000479353,;PTGER3,missense_variant,p.Thr310Ser,ENST00000497146,;	1139	55	58	SUCCESS
C1orf173	0	.	GRCh37	1	75065587	75065587	+	synonymous_variant	Silent	SNP	C	C	T	rs745497573	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	64	0	ENST00000326665.5:c.1518G>A	p.Glu506=	p.E506=	ENST00000326665	NM_001002912.4	506	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS30755.1	1518	RADIA|MUTECT|MUSE	.	TTCTCCTCATC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23034	.	.	ENSP00000322609	.	11/15	.	.	.	.	.	.	.	.	rs745497573,COSM682141	11/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,synonymous_variant,p.%3D,ENST00000420661,;C1orf173,synonymous_variant,p.%3D,ENST00000326665,;RP4-612J11.1,intron_variant,,ENST00000416017,;	1737	64	78	SUCCESS
C1orf173	0	.	GRCh37	1	75065589	75065589	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs774941929	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	63	0	ENST00000326665.5:c.1516G>T	p.Glu506Ter	p.E506*	ENST00000326665	NM_001002912.4	506	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS30755.1	1516	RADIA|MUTECT|MUSE	.	CTCCTCATCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23034	.	.	ENSP00000322609	.	11/15	.	.	.	.	.	.	.	.	rs774941929	11/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,stop_gained,p.Glu309Ter,ENST00000420661,;C1orf173,stop_gained,p.Glu506Ter,ENST00000326665,;RP4-612J11.1,intron_variant,,ENST00000416017,;	1735	63	78	SUCCESS
STK35	140901	.	GRCh37	20	2083558	2083558	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	10	0	ENST00000381482.3:c.439A>C	p.Ser147Arg	p.S147R	ENST00000381482		147	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS13024.2	439	MUTECT|MUSE	.	CACAAAGCCCG	NONE	.	.	hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF59,Gene3D:3.30.200.20	.	.	ENSP00000370891	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000381482	Transcript	.	.	ENSG00000125834	16254	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	deleterious_low_confidence(0.04)	.	STK35_HUMAN	STK35	HGNC	.	.	UPI00003FCD67	SNV	STK35,missense_variant,p.Ser147Arg,ENST00000381482,;STK35,missense_variant,p.Ser14Arg,ENST00000246032,;STK35,5_prime_UTR_variant,,ENST00000400064,;STK35,missense_variant,p.Ser8Arg,ENST00000493263,;	710	10	12	SUCCESS
PHF20	51230	.	GRCh37	20	34450992	34450992	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	61	356	0	ENST00000374012.3:c.478C>T	p.Pro160Ser	p.P160S	ENST00000374012		160	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS13268.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTCCTGAT	NONE	.	.	hmmpanther:PTHR15856:SF27,hmmpanther:PTHR15856	.	.	ENSP00000363124	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000374012	Transcript	.	.	ENSG00000025293	16098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.15)	.	PHF20_HUMAN	PHF20	HGNC	Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN	.	UPI000006E61B	SNV	PHF20,missense_variant,p.Pro160Ser,ENST00000439301,;PHF20,missense_variant,p.Pro160Ser,ENST00000374012,;PHF20,missense_variant,p.Pro160Ser,ENST00000339089,;PHF20,missense_variant,p.Pro53Ser,ENST00000449988,;PHF20,missense_variant,p.Pro160Ser,ENST00000374000,;PHF20,non_coding_transcript_exon_variant,,ENST00000480940,;PHF20,non_coding_transcript_exon_variant,,ENST00000496305,;PHF20,non_coding_transcript_exon_variant,,ENST00000461122,;PHF20,non_coding_transcript_exon_variant,,ENST00000481202,;PHF20,non_coding_transcript_exon_variant,,ENST00000486408,;PHF20,intron_variant,,ENST00000495338,;	607	357	292	SUCCESS
ATRN	8455	.	GRCh37	20	3451947	3451947	+	synonymous_variant	Silent	SNP	C	C	T	rs1398454562	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	19	0	ENST00000262919.5:c.193C>T	p.Leu65=	p.L65=	ENST00000262919	NM_139321.2	65	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13053.1	193	MUTECT|MUSE	.	TGCTGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000262919	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000262919	Transcript	.	.	ENSG00000088812	885	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATRN_HUMAN	ATRN	HGNC	.	.	UPI000012661C	SNV	ATRN,synonymous_variant,p.%3D,ENST00000446916,;ATRN,synonymous_variant,p.%3D,ENST00000262919,;	261	19	24	SUCCESS
TOP1	7150	.	GRCh37	20	39657608	39657608	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	34	0	ENST00000361337.2:c.-100C>T		p.*34*	ENST00000361337	NM_003286.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13312.1	.	MUTECT|MUSE	.	CTCCTCGAGCC	NONE	.	.	.	.	.	ENSP00000354522	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000361337	Transcript	.	.	ENSG00000198900	11986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOP1_HUMAN	TOP1	HGNC	Q9BVT2_HUMAN	.	UPI000004F0B1	SNV	TOP1,5_prime_UTR_variant,,ENST00000361337,;RNU2-52P,downstream_gene_variant,,ENST00000410680,;	151	34	27	SUCCESS
CHD6	84181	.	GRCh37	20	40050513	40050513	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	91	0	ENST00000373233.3:c.4762A>G	p.Thr1588Ala	p.T1588A	ENST00000373233	NM_032221.4	1588	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13317.1	4762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTGCCGA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589	.	.	ENSP00000362330	.	31/37	.	.	.	.	.	.	.	.	.	31/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Thr1588Ala,ENST00000373233,;CHD6,downstream_gene_variant,,ENST00000440697,;	4940	91	79	SUCCESS
SRSF6	6431	.	GRCh37	20	42088512	42088512	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	130	0	ENST00000244020.3:c.358C>T	p.Arg120Trp	p.R120W	ENST00000244020	NM_006275.5	120	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS13318.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGTCGGTGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF7,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000244020	.	3/6	.	.	.	.	.	.	.	.	COSM3546661	3/6	PASS	ENST00000244020	Transcript	.	.	ENSG00000124193	10788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SRSF6_HUMAN	SRSF6	HGNC	.	.	UPI00001358C1	SNV	SRSF6,missense_variant,p.Arg120Trp,ENST00000244020,;SRSF6,3_prime_UTR_variant,,ENST00000483871,;	464	130	86	SUCCESS
WISP2	0	.	GRCh37	20	43355822	43355822	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	73	0	ENST00000372868.2:c.627G>A	p.Gly209=	p.G209=	ENST00000372868		209	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13336.1	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGGCTGGG	BUFFER|p.A213V|c.638C>T|3	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF16,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000361959	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372868	Transcript	.	.	ENSG00000064205	12770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WISP2_HUMAN	WISP2	HGNC	.	.	UPI0000037219	SNV	WISP2,missense_variant,p.Gly127Asp,ENST00000372865,;WISP2,synonymous_variant,p.%3D,ENST00000190983,;WISP2,synonymous_variant,p.%3D,ENST00000372868,;RP11-445H22.4,intron_variant,,ENST00000445420,;RP11-445H22.4,intron_variant,,ENST00000427303,;RP11-445H22.4,intron_variant,,ENST00000427598,;WISP2,non_coding_transcript_exon_variant,,ENST00000465000,;WISP2,non_coding_transcript_exon_variant,,ENST00000471629,;	970	73	56	SUCCESS
SAMSN1	64092	.	GRCh37	21	15858279	15858279	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	80	0	ENST00000400566.1:c.1076T>G	p.Leu359Arg	p.L359R	ENST00000400566	NM_022136.4	359	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS58786.1	1280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAGATTT	NONE	.	.	hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4	.	.	ENSP00000285670	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000285670	Transcript	.	.	ENSG00000155307	10528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	SAMSN1	HGNC	S6FRS6_HUMAN,F8WAA1_HUMAN	.	UPI000013DDFD	SNV	SAMSN1,missense_variant,p.Leu359Arg,ENST00000400566,;SAMSN1,missense_variant,p.Leu191Arg,ENST00000400564,;SAMSN1,missense_variant,p.Leu427Arg,ENST00000285670,;	1455	80	63	SUCCESS
C21orf59	0	.	GRCh37	21	33984425	33984425	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	80	0	ENST00000290155.3:c.129C>T	p.Arg43=	p.R43=	ENST00000290155	NM_021254.2	43	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13617.1	129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGCGCTG	NONE	.	.	hmmpanther:PTHR13238	.	.	ENSP00000290155	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000290155	Transcript	.	.	ENSG00000159079	1301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CU059_HUMAN	C21orf59	HGNC	G8XV63_HUMAN	.	UPI00001286B0	SNV	C21orf59,synonymous_variant,p.%3D,ENST00000540881,;AP000275.65,synonymous_variant,p.%3D,ENST00000553001,;AP000275.65,synonymous_variant,p.%3D,ENST00000431216,;C21orf59,synonymous_variant,p.%3D,ENST00000290155,;C21orf59,synonymous_variant,p.%3D,ENST00000382549,;C21orf59,synonymous_variant,p.%3D,ENST00000440966,;C21orf59,synonymous_variant,p.%3D,ENST00000458138,;C21orf59,synonymous_variant,p.%3D,ENST00000300260,;	752	80	76	SUCCESS
DOPEY2	0	.	GRCh37	21	37603416	37603416	+	synonymous_variant	Silent	SNP	G	G	A	rs756665654	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	99	0	ENST00000399151.3:c.2334G>A	p.Thr778=	p.T778=	ENST00000399151	NM_005128.2	778	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13643.1	2334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGCTCTT	NONE	byFrequency	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	14/37	.	.	.	.	.	.	.	.	rs756665654	14/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;	2419	99	96	SUCCESS
KRTAP10-12	386685	.	GRCh37	21	46117302	46117302	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	37	0	ENST00000400365.3:c.186C>A	p.Cys62Ter	p.C62*	ENST00000400365	NM_198699.1	62	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS42967.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCTGCCG	BUFFER|p.R64P|c.191G>C|3	.	.	hmmpanther:PTHR23262:SF8,hmmpanther:PTHR23262	.	.	ENSP00000383216	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400365	Transcript	.	.	ENSG00000189169	20533	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR10C_HUMAN	KRTAP10-12	HGNC	.	.	UPI000021C445	SNV	KRTAP10-12,stop_gained,p.Cys62Ter,ENST00000400365,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-13P,upstream_gene_variant,,ENST00000412914,;	216	37	56	SUCCESS
MAPK1	5594	.	GRCh37	22	22221631	22221631	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	59	0	ENST00000215832.6:c.100G>T	p.Gly34Cys	p.G34C	ENST00000215832	NM_002745.4	34	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS13795.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCCCTCGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF161,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000215832	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000215832	Transcript	.	.	ENSG00000100030	6871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MK01_HUMAN	MAPK1	HGNC	Q1HBJ4_HUMAN,B4DHN0_HUMAN	.	UPI000000104F	SNV	MAPK1,missense_variant,p.Gly34Cys,ENST00000398822,;MAPK1,missense_variant,p.Gly34Cys,ENST00000544786,;MAPK1,missense_variant,p.Gly34Cys,ENST00000215832,;	289	59	35	SUCCESS
IGLV7-46	28775	.	GRCh37	22	22724331	22724331	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	68	0	ENST00000390295.2:c.227A>T	p.His76Leu	p.H76L	ENST00000390295		76	cAc/cTc	0	.	.	.	.	.	T	H/L	IG_V_gene	YES	.	227	RADIA|MUTECT|MUSE	.	CAAACACTCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF120,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000374830	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390295	Transcript	.	.	ENSG00000211649	5930	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGLV7-46	HGNC	Q5NV83_HUMAN	.	UPI0000F30335	SNV	IGLV7-46,missense_variant,p.His76Leu,ENST00000390295,;LL22NC03-22A12.12,upstream_gene_variant,,ENST00000443400,;LL22NC03-22A12.9,downstream_gene_variant,,ENST00000453999,;	261	68	55	SUCCESS
MCHR1	2847	.	GRCh37	22	41077826	41077826	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199697488	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	46	0	ENST00000249016.4:c.1163G>A	p.Arg388His	p.R388H	ENST00000249016	NM_005297.3	388	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14004.1	1163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGCAAAC	SITE|p.R388H|c.1163G>A|4	byFrequency|byCluster	.	Prints_domain:PR00237,Prints_domain:PR01507,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF17	.	.	ENSP00000249016	.	2/2	.	.	.	.	.	.	.	.	rs199697488,COSM1172776	2/2	PASS	ENST00000249016	Transcript	.	.	ENSG00000128285	4479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.818)	.	deleterious(0)	0,1	MCHR1_HUMAN	MCHR1	HGNC	Q5IFI4_HUMAN	.	UPI0000073C67	SNV	MCHR1,missense_variant,p.Arg262His,ENST00000381433,;MCHR1,missense_variant,p.Arg388His,ENST00000249016,;MCHR1,non_coding_transcript_exon_variant,,ENST00000498400,;MCHR1,downstream_gene_variant,,ENST00000465662,;	1859	46	47	SUCCESS
NHP2L1	0	.	GRCh37	22	42078511	42078511	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	17	0	ENST00000215956.5:c.-149G>T		p.*50*	ENST00000215956				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14022.1	.	MUTECT|MUSE	.	ACGTCCAGGGC	NONE	.	.	.	.	.	ENSP00000383949	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000401959	Transcript	.	.	ENSG00000100138	7819	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NH2L1_HUMAN	NHP2L1	HGNC	Q6FHM6_HUMAN	.	UPI0000026E49	SNV	NHP2L1,5_prime_UTR_variant,,ENST00000401959,;NHP2L1,5_prime_UTR_variant,,ENST00000215956,;NHP2L1,intron_variant,,ENST00000402458,;NHP2L1,intron_variant,,ENST00000355257,;RNU6-476P,downstream_gene_variant,,ENST00000384726,;NHP2L1,intron_variant,,ENST00000469028,;NHP2L1,intron_variant,,ENST00000463675,;NHP2L1,upstream_gene_variant,,ENST00000488571,;	169	17	15	SUCCESS
EFCAB6	64800	.	GRCh37	22	43986003	43986003	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	31	134	0	ENST00000262726.7:c.2983G>C	p.Glu995Gln	p.E995Q	ENST00000262726	NM_022785.3	995	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS14049.1	2983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCTTCCA	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR10891:SF220,hmmpanther:PTHR10891,PROSITE_profiles:PS50222	.	.	ENSP00000262726	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000262726	Transcript	.	.	ENSG00000186976	24204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0.02)	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	SNV	EFCAB6,missense_variant,p.Glu995Gln,ENST00000262726,;EFCAB6,missense_variant,p.Glu843Gln,ENST00000396231,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000468552,;	3237	134	123	SUCCESS
EFCAB6	64800	.	GRCh37	22	44168801	44168801	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs372200947	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	116	0	ENST00000262726.7:c.322C>T	p.Arg108Ter	p.R108*	ENST00000262726	NM_022785.3	108	Cga/Tga	0	A:0	A:0	.	A:0.0014	.	A	R/*	protein_coding	YES	CCDS14049.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGTGTGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10	A:0	A:0.0001	ENSP00000262726	A:0	4/32	.	.	.	.	.	.	.	.	rs372200947	4/32	PASS	ENST00000262726	Transcript	.	A:0.0002	ENSG00000186976	24204	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	SNV	EFCAB6,stop_gained,p.Arg108Ter,ENST00000262726,;EFCAB6,intron_variant,,ENST00000358439,;EFCAB6,intron_variant,,ENST00000356087,;EFCAB6,intron_variant,,ENST00000396231,;EFCAB6,intron_variant,,ENST00000476600,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	576	116	83	SUCCESS
LDOC1L	0	.	GRCh37	22	44893314	44893314	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	65	0	ENST00000341255.3:c.123G>T	p.Arg41=	p.R41=	ENST00000341255	NM_032287.2	41	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33662.1	123	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCCGCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15503:SF5,hmmpanther:PTHR15503	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,synonymous_variant,p.%3D,ENST00000341255,;	633	65	67	SUCCESS
ARSA	410	.	GRCh37	22	51065813	51065813	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	73	0	ENST00000216124.5:c.246G>A	p.Arg82=	p.R82=	ENST00000216124	NM_000487.5	82	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS14100.2	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCCGGCC	NONE	.	.	hmmpanther:PTHR10342:SF22,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000216124	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000216124	Transcript	.	.	ENSG00000100299	713	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARSA_HUMAN	ARSA	HGNC	.	.	UPI000013C6C4	SNV	ARSA,synonymous_variant,p.%3D,ENST00000547805,;ARSA,synonymous_variant,p.%3D,ENST00000395619,;ARSA,synonymous_variant,p.%3D,ENST00000395621,;ARSA,synonymous_variant,p.%3D,ENST00000216124,;ARSA,synonymous_variant,p.%3D,ENST00000547307,;ARSA,synonymous_variant,p.%3D,ENST00000356098,;ARSA,5_prime_UTR_variant,,ENST00000453344,;ARSA,upstream_gene_variant,,ENST00000610191,;ARSA,non_coding_transcript_exon_variant,,ENST00000551731,;ARSA,upstream_gene_variant,,ENST00000608497,;	639	73	79	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125671760	125671760	+	synonymous_variant	Silent	SNP	C	C	T	rs1345887588	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	84	373	1	ENST00000431078.1:c.3816C>T	p.Ser1272=	p.S1272=	ENST00000431078	NM_130773.3	1272	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS46401.1	3816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGCCAGAT	BUFFER|p.K1275R|c.3824A>G|4	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605	.	.	ENSP00000399013	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,synonymous_variant,p.%3D,ENST00000431078,;	4180	374	333	SUCCESS
SLC4A10	57282	.	GRCh37	2	162761399	162761399	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs534495211	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	123	0	ENST00000446997.1:c.1731G>T	p.Lys577Asn	p.K577N	ENST00000446997	NM_001178015.1	577	aaG/aaT	0	.	A:0	.	A:0	.	T	K/N	protein_coding	YES	CCDS54411.1	1731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGATTTT	NONE	by1000G	.	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	A:0.001	.	ENSP00000393066	A:0	14/27	.	.	.	.	.	.	.	.	rs534495211,COSM1008300,COSM1590786	14/27	PASS	ENST00000446997	Transcript	.	A:0.0002	ENSG00000144290	13811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	A:0	deleterious(0.02)	0,1,1	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,missense_variant,p.Lys577Asn,ENST00000446997,;SLC4A10,missense_variant,p.Lys577Asn,ENST00000421911,;SLC4A10,missense_variant,p.Lys547Asn,ENST00000272716,;SLC4A10,missense_variant,p.Lys547Asn,ENST00000415876,;SLC4A10,missense_variant,p.Lys558Asn,ENST00000375514,;SLC4A10,downstream_gene_variant,,ENST00000535165,;SLC4A10,downstream_gene_variant,,ENST00000493021,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	1824	123	109	SUCCESS
XIRP2	129446	.	GRCh37	2	168103206	168103206	+	synonymous_variant	Silent	SNP	A	A	G	rs775529913	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	51	166	0	ENST00000409195.1:c.5304A>G	p.Thr1768=	p.T1768=	ENST00000409195	NM_152381.5	1768	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS42769.1	5304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACACTGAC	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs775529913	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	5393	166	192	SUCCESS
GPR155	151556	.	GRCh37	2	175309901	175309901	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	66	0	ENST00000295500.4:c.2017C>T	p.Leu673Phe	p.L673F	ENST00000295500	NM_001033045.3	673	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS2259.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGATTCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22829	.	.	ENSP00000376335	.	13/16	.	.	.	.	.	.	.	.	COSM171912	13/16	PASS	ENST00000392552	Transcript	.	.	ENSG00000163328	22951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.659)	.	deleterious(0)	1	GP155_HUMAN	GPR155	HGNC	.	.	UPI000013E262	SNV	GPR155,missense_variant,p.Leu673Phe,ENST00000295500,;GPR155,missense_variant,p.Leu673Phe,ENST00000392552,;GPR155,missense_variant,p.Leu673Phe,ENST00000392551,;GPR155,non_coding_transcript_exon_variant,,ENST00000459996,;	2256	66	57	SUCCESS
TTN	7273	.	GRCh37	2	179447182	179447182	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	27	150	0	ENST00000591111.1:c.61078C>A	p.Pro20360Thr	p.P20360T	ENST00000591111		20360	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59435.1	66001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGGCCTGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	314/363	.	.	.	.	.	.	.	.	.	314/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro13061Thr,ENST00000359218,;TTN,missense_variant,p.Pro20360Thr,ENST00000591111,;TTN,missense_variant,p.Pro22001Thr,ENST00000589042,;TTN,missense_variant,p.Pro13128Thr,ENST00000342175,;TTN,missense_variant,p.Pro19433Thr,ENST00000342992,;TTN,missense_variant,p.Pro12936Thr,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;	66226	150	139	SUCCESS
SLC39A10	57181	.	GRCh37	2	196544891	196544891	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	271	83	372	0	ENST00000359634.5:c.125G>T	p.Gly42Val	p.G42V	ENST00000359634	NM_020342.2	42	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33353.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGAATGA	NONE	.	.	hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191	.	.	ENSP00000386766	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	tolerated(0.12)	.	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Gly42Val,ENST00000418005,;SLC39A10,missense_variant,p.Gly42Val,ENST00000458054,;SLC39A10,missense_variant,p.Gly42Val,ENST00000409086,;SLC39A10,missense_variant,p.Gly42Val,ENST00000359634,;SLC39A10,intron_variant,,ENST00000541054,;SLC39A10,downstream_gene_variant,,ENST00000412905,;SLC39A10,intron_variant,,ENST00000430412,;SLC39A10,intron_variant,,ENST00000444421,;SLC39A10,upstream_gene_variant,,ENST00000465851,;	400	372	355	SUCCESS
SLC39A10	57181	.	GRCh37	2	196545343	196545343	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	211	65	260	0	ENST00000359634.5:c.577A>T	p.Thr193Ser	p.T193S	ENST00000359634	NM_020342.2	193	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS33353.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACACTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191	.	.	ENSP00000386766	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.36)	.	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Thr193Ser,ENST00000409086,;SLC39A10,missense_variant,p.Thr193Ser,ENST00000359634,;SLC39A10,intron_variant,,ENST00000541054,;SLC39A10,downstream_gene_variant,,ENST00000418005,;SLC39A10,downstream_gene_variant,,ENST00000412905,;SLC39A10,downstream_gene_variant,,ENST00000458054,;SLC39A10,non_coding_transcript_exon_variant,,ENST00000465851,;SLC39A10,intron_variant,,ENST00000430412,;SLC39A10,intron_variant,,ENST00000444421,;	852	260	276	SUCCESS
ZDBF2	57683	.	GRCh37	2	207169971	207169971	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	62	237	0	ENST00000374423.3:c.719C>G	p.Pro240Arg	p.P240R	ENST00000374423	NM_020923.1	240	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS46501.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCATCAT	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.18)	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Pro240Arg,ENST00000374423,;	1105	237	237	SUCCESS
EPHA4	2043	.	GRCh37	2	222308221	222308221	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773524736	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	27	150	0	ENST00000281821.2:c.1880T>C	p.Ile627Thr	p.I627T	ENST00000281821	NM_004438.3	627	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2447.1	1880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATAACT	NONE	byFrequency	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,SMART_domains:SM00220,Pfam_domain:PF07714,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000281821	.	10/18	.	.	.	.	.	.	.	.	rs773524736	10/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Ile627Thr,ENST00000281821,;EPHA4,missense_variant,p.Ile627Thr,ENST00000409854,;EPHA4,missense_variant,p.Ile576Thr,ENST00000392071,;EPHA4,missense_variant,p.Ile627Thr,ENST00000409938,;	1922	150	139	SUCCESS
FARP2	9855	.	GRCh37	2	242405077	242405077	+	intron_variant	Intron	SNP	C	C	T	rs775747114	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	84	0	ENST00000264042.3:c.1893+1682C>T		p.*631*	ENST00000264042	NM_014808.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33424.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCCTCCC	NONE	.	.	.	.	.	ENSP00000264042	.	.	.	.	.	.	.	.	.	.	rs775747114	.	PASS	ENST00000264042	Transcript	.	.	ENSG00000006607	16460	.	.	MODIFIER	17/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FARP2_HUMAN	FARP2	HGNC	C9JWM9_HUMAN,C9JVQ5_HUMAN	.	UPI0000073D5B	SNV	FARP2,3_prime_UTR_variant,,ENST00000373287,;FARP2,intron_variant,,ENST00000422951,;FARP2,intron_variant,,ENST00000264042,;FARP2,intron_variant,,ENST00000545004,;FARP2,intron_variant,,ENST00000496470,;FARP2,downstream_gene_variant,,ENST00000473510,;FARP2,downstream_gene_variant,,ENST00000476799,;	.	84	82	SUCCESS
FAM150B	0	.	GRCh37	2	283165	283165	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	114	0	ENST00000403610.4:c.399A>C	p.Arg133Ser	p.R133S	ENST00000403610	NM_001002919.2	133	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS46218.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCATCTTTT	NONE	.	.	Pfam_domain:PF15129	.	.	ENSP00000384604	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000403610	Transcript	.	.	ENSG00000189292	27683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	F150B_HUMAN	FAM150B	HGNC	B5MCG6_HUMAN,B5MC33_HUMAN	.	UPI000003ED28	SNV	FAM150B,missense_variant,p.Arg133Ser,ENST00000403610,;FAM150B,missense_variant,p.Arg41Ser,ENST00000344414,;FAM150B,missense_variant,p.Arg41Ser,ENST00000401503,;FAM150B,missense_variant,p.Arg84Ser,ENST00000401489,;FAM150B,missense_variant,p.Arg133Ser,ENST00000452023,;FAM150B,missense_variant,p.Arg41Ser,ENST00000405290,;ACP1,downstream_gene_variant,,ENST00000272065,;ACP1,downstream_gene_variant,,ENST00000272067,;AC079779.4,upstream_gene_variant,,ENST00000427831,;FAM150B,downstream_gene_variant,,ENST00000463919,;AC079779.4,upstream_gene_variant,,ENST00000450709,;	740	114	79	SUCCESS
FBXO11	80204	.	GRCh37	2	48132683	48132683	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	9	0	ENST00000403359.3:c.177G>T	p.Pro59=	p.P59=	ENST00000403359	NM_001190274.1	59	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS54357.1	177	MUTECT|MUSE	.	GGCGGCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22990:SF12,hmmpanther:PTHR22990	.	.	ENSP00000384823	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000403359	Transcript	.	.	ENSG00000138081	13590	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX11_HUMAN	FBXO11	HGNC	E7EP88_HUMAN,C9IYF0_HUMAN,B5MCV6_HUMAN	.	UPI00005793B7	SNV	FBXO11,synonymous_variant,p.%3D,ENST00000403359,;FBXO11,5_prime_UTR_variant,,ENST00000378314,;FBXO11,5_prime_UTR_variant,,ENST00000316377,;FBXO11,upstream_gene_variant,,ENST00000424163,;AC079807.2,upstream_gene_variant,,ENST00000439870,;AC079807.2,upstream_gene_variant,,ENST00000432064,;AC079807.2,upstream_gene_variant,,ENST00000417692,;FBXO11,non_coding_transcript_exon_variant,,ENST00000492225,;	250	9	10	SUCCESS
CCDC88A	55704	.	GRCh37	2	55571513	55571513	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	75	0	ENST00000436346.1:c.1179T>A	p.Asp393Glu	p.D393E	ENST00000436346	NM_001135597.1	393	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS46288.1	1179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATATCATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30,Pfam_domain:PF05622	.	.	ENSP00000338728	.	11/33	.	.	.	.	.	.	.	.	.	11/33	PASS	ENST00000336838	Transcript	.	.	ENSG00000115355	25523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.02)	.	GRDN_HUMAN	CCDC88A	HGNC	C9J225_HUMAN,B4DSN0_HUMAN	.	UPI00005B7220	SNV	CCDC88A,missense_variant,p.Asp393Glu,ENST00000413716,;CCDC88A,missense_variant,p.Asp393Glu,ENST00000436346,;CCDC88A,missense_variant,p.Asp393Glu,ENST00000263630,;CCDC88A,missense_variant,p.Asp393Glu,ENST00000336838,;AC012358.8,intron_variant,,ENST00000594078,;AC012358.8,downstream_gene_variant,,ENST00000608103,;AC012358.8,downstream_gene_variant,,ENST00000600219,;AC012358.8,downstream_gene_variant,,ENST00000599475,;AC012358.8,downstream_gene_variant,,ENST00000599352,;	1713	75	68	SUCCESS
LRRTM4	80059	.	GRCh37	2	77746081	77746081	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	76	0	ENST00000409093.1:c.914C>T	p.Ser305Phe	p.S305F	ENST00000409093		305	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS46346.1	914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGATATT	NONE	.	.	hmmpanther:PTHR24369:SF1,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000386357	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000409093	Transcript	.	.	ENSG00000176204	19411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	LRRT4_HUMAN	LRRTM4	HGNC	C9JM64_HUMAN	.	UPI0000047808	SNV	LRRTM4,missense_variant,p.Ser305Phe,ENST00000409088,;LRRTM4,missense_variant,p.Ser305Phe,ENST00000409093,;LRRTM4,missense_variant,p.Ser306Phe,ENST00000409282,;LRRTM4,missense_variant,p.Ser305Phe,ENST00000409884,;LRRTM4,missense_variant,p.Ser306Phe,ENST00000409911,;LRRTM4,downstream_gene_variant,,ENST00000456154,;	1251	76	73	SUCCESS
IGKV2D-28	28883	.	GRCh37	2	89999303	89999303	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	65	0	ENST00000453166.2:c.105T>G	p.Pro35=	p.P35=	ENST00000453166		35	ccT/ccG	0	.	.	.	.	.	G	P	IG_V_gene	YES	.	105	RADIA|VARSCANS	.	ACCCCTGGAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF155,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000393492	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000453166	Transcript	.	.	ENSG00000242534	5799	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	IGKV2D-28	HGNC	.	.	UPI00005FFCB1	SNV	IGKV2D-28,synonymous_variant,p.%3D,ENST00000558026,;IGKV2D-28,synonymous_variant,p.%3D,ENST00000453166,;	141	65	76	SUCCESS
GPAT2	150763	.	GRCh37	2	96690205	96690205	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	76	0	ENST00000359548.4:c.1639C>T	p.Leu547=	p.L547=	ENST00000359548	NM_207328.2	547	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42714.1	1639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGCAGCT	NONE	.	.	hmmpanther:PTHR12563:SF7,hmmpanther:PTHR12563	.	.	ENSP00000389395	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000434632	Transcript	.	.	ENSG00000186281	27168	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPAT2_HUMAN	GPAT2	HGNC	C9JYV5_HUMAN	.	UPI0000E5E123	SNV	GPAT2,synonymous_variant,p.%3D,ENST00000377137,;GPAT2,synonymous_variant,p.%3D,ENST00000359548,;GPAT2,synonymous_variant,p.%3D,ENST00000453542,;GPAT2,synonymous_variant,p.%3D,ENST00000434632,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;FAHD2CP,downstream_gene_variant,,ENST00000443258,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;FAHD2CP,downstream_gene_variant,,ENST00000467292,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;FAHD2CP,downstream_gene_variant,,ENST00000427863,;	2099	76	53	SUCCESS
ABI3BP	25890	.	GRCh37	3	100513777	100513777	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	65	273	0	ENST00000284322.5:c.1878G>T	p.Gln626His	p.Q626H	ENST00000284322	NM_015429.3	626	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS46880.1	1878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCTGTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23197	.	.	ENSP00000284322	.	22/35	.	.	.	.	.	.	.	.	COSM4136443,COSM4136444,COSM4136442	22/35	PASS	ENST00000284322	Transcript	.	.	ENSG00000154175	17265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.948)	.	tolerated(0.09)	1,1,1	TARSH_HUMAN	ABI3BP	HGNC	.	.	UPI000011C136	SNV	ABI3BP,missense_variant,p.Gln184His,ENST00000478235,;ABI3BP,missense_variant,p.Gln206His,ENST00000471901,;ABI3BP,missense_variant,p.Gln148His,ENST00000527943,;ABI3BP,missense_variant,p.Gln682His,ENST00000495591,;ABI3BP,missense_variant,p.Gln42His,ENST00000497395,;ABI3BP,missense_variant,p.Gln184His,ENST00000466947,;ABI3BP,missense_variant,p.Gln626His,ENST00000284322,;ABI3BP,missense_variant,p.Gln580His,ENST00000383691,;ABI3BP,missense_variant,p.Gln155His,ENST00000482765,;ABI3BP,missense_variant,p.Gln1303His,ENST00000471714,;ABI3BP,missense_variant,p.Gln64His,ENST00000486770,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;	1988	273	244	SUCCESS
KIAA2018	0	.	GRCh37	3	113378345	113378345	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	106	0	ENST00000316407.4:c.2184A>G	p.Gln728=	p.Q728=	ENST00000316407	NM_001009899.2	728	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS43133.1	2184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAATTGTAC	NONE	.	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,synonymous_variant,p.%3D,ENST00000478658,;KIAA2018,synonymous_variant,p.%3D,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	2595	106	108	SUCCESS
ACPP	0	.	GRCh37	3	132061418	132061418	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	75	0	ENST00000351273.7:c.578A>G	p.Lys193Arg	p.K193R	ENST00000351273	NM_001134194.1	193	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46916.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAAACTTT	NONE	.	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254	.	.	ENSP00000323036	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.23)	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,missense_variant,p.Lys193Arg,ENST00000351273,;ACPP,missense_variant,p.Lys164Arg,ENST00000495911,;ACPP,missense_variant,p.Lys160Arg,ENST00000475741,;ACPP,missense_variant,p.Lys193Arg,ENST00000336375,;ACPP,non_coding_transcript_exon_variant,,ENST00000512463,;	628	75	61	SUCCESS
NCK1	4690	.	GRCh37	3	136664512	136664512	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	50	207	0	ENST00000288986.2:c.314A>G	p.Tyr105Cys	p.Y105C	ENST00000288986	NM_006153.4	105	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3092.1	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTATGACC	NONE	.	.	PIRSF_domain:PIRSF037874,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF11	.	.	ENSP00000417273	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000481752	Transcript	.	.	ENSG00000158092	7664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	tolerated(0.07)	.	NCK1_HUMAN	NCK1	HGNC	C9K098_HUMAN,C9JVV5_HUMAN,C9J0K5_HUMAN	.	UPI000012FE3E	SNV	NCK1,missense_variant,p.Tyr41Cys,ENST00000467911,;NCK1,missense_variant,p.Tyr93Cys,ENST00000496489,;NCK1,missense_variant,p.Tyr105Cys,ENST00000488930,;NCK1,missense_variant,p.Tyr41Cys,ENST00000469404,;NCK1,missense_variant,p.Tyr105Cys,ENST00000481752,;NCK1,missense_variant,p.Tyr105Cys,ENST00000485096,;NCK1,missense_variant,p.Tyr105Cys,ENST00000288986,;NCK1,missense_variant,p.Tyr105Cys,ENST00000491539,;IL20RB,upstream_gene_variant,,ENST00000484501,;NCK1,upstream_gene_variant,,ENST00000482071,;	478	207	172	SUCCESS
ZBBX	79740	.	GRCh37	3	167083713	167083713	+	synonymous_variant	Silent	SNP	T	T	C	rs1427515222	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	90	322	0	ENST00000392766.2:c.234A>G	p.Gln78=	p.Q78=	ENST00000392766	NM_001199201.1	78	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS56296.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGATTGATT	NONE	.	.	.	.	.	ENSP00000390232	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000455345	Transcript	.	.	ENSG00000169064	26245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBBX_HUMAN	ZBBX	HGNC	C9JVV2_HUMAN	.	UPI000020A746	SNV	ZBBX,synonymous_variant,p.%3D,ENST00000455345,;ZBBX,synonymous_variant,p.%3D,ENST00000392767,;ZBBX,synonymous_variant,p.%3D,ENST00000307529,;ZBBX,synonymous_variant,p.%3D,ENST00000474464,;ZBBX,synonymous_variant,p.%3D,ENST00000392766,;ZBBX,synonymous_variant,p.%3D,ENST00000392764,;ZBBX,downstream_gene_variant,,ENST00000485651,;ZBBX,intron_variant,,ENST00000469220,;ZBBX,downstream_gene_variant,,ENST00000473888,;	518	322	338	SUCCESS
LRRC31	79782	.	GRCh37	3	169574626	169574626	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	74	0	ENST00000316428.5:c.522G>A	p.Glu174=	p.E174=	ENST00000316428	NM_024727.3	174	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43167.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGCTCTTC	NONE	.	.	hmmpanther:PTHR24109,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000325978	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000316428	Transcript	.	.	ENSG00000114248	26261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC31_HUMAN	LRRC31	HGNC	.	.	UPI00001D690F	SNV	LRRC31,synonymous_variant,p.%3D,ENST00000264676,;LRRC31,synonymous_variant,p.%3D,ENST00000523069,;LRRC31,synonymous_variant,p.%3D,ENST00000316428,;LRRC31,non_coding_transcript_exon_variant,,ENST00000397805,;	580	74	51	SUCCESS
SLC7A14	57709	.	GRCh37	3	170198647	170198647	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	100	0	ENST00000231706.5:c.1424G>T	p.Gly475Val	p.G475V	ENST00000231706	NM_020949.2	475	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33892.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCAGAA	NONE	.	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF250	.	.	ENSP00000231706	.	7/8	.	.	.	.	.	.	.	.	COSM1226561	7/8	PASS	ENST00000231706	Transcript	.	.	ENSG00000013293	29326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.51)	1	S7A14_HUMAN	SLC7A14	HGNC	.	.	UPI0000051F6B	SNV	SLC7A14,missense_variant,p.Gly475Val,ENST00000231706,;CLDN11,intron_variant,,ENST00000486975,;CLDN11,intron_variant,,ENST00000451576,;CLDN11,intron_variant,,ENST00000480067,;CLDN11,intron_variant,,ENST00000471373,;	1740	100	77	SUCCESS
ACAP2	23527	.	GRCh37	3	195101743	195101743	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	347	116	465	0	ENST00000326793.6:c.280C>A	p.His94Asn	p.H94N	ENST00000326793	NM_012287.5	94	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS33924.1	280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGAAAAT	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657	.	.	ENSP00000324287	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.515)	.	deleterious(0.03)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.His50Asn,ENST00000439666,;ACAP2,missense_variant,p.His94Asn,ENST00000326793,;ACAP2,non_coding_transcript_exon_variant,,ENST00000481463,;ACAP2,non_coding_transcript_exon_variant,,ENST00000480906,;ACAP2,downstream_gene_variant,,ENST00000447662,;	511	466	463	SUCCESS
SCN5A	6331	.	GRCh37	3	38616808	38616808	+	synonymous_variant	Silent	SNP	G	G	A	rs1036340226	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	92	0	ENST00000333535.4:c.3646C>T	p.Leu1216=	p.L1216=	ENST00000333535		1216	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46799.1	3646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTAGGATCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000410257	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,synonymous_variant,p.%3D,ENST00000449557,;SCN5A,synonymous_variant,p.%3D,ENST00000413689,;SCN5A,synonymous_variant,p.%3D,ENST00000423572,;SCN5A,synonymous_variant,p.%3D,ENST00000425664,;SCN5A,synonymous_variant,p.%3D,ENST00000414099,;SCN5A,synonymous_variant,p.%3D,ENST00000451551,;SCN5A,synonymous_variant,p.%3D,ENST00000450102,;SCN5A,synonymous_variant,p.%3D,ENST00000333535,;SCN5A,synonymous_variant,p.%3D,ENST00000455624,;SCN5A,synonymous_variant,p.%3D,ENST00000443581,;	3840	92	81	SUCCESS
TOPAZ1	375337	.	GRCh37	3	44285485	44285485	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs553067005	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	54	173	0	ENST00000309765.4:c.1487A>G	p.Tyr496Cys	p.Y496C	ENST00000309765	NM_001145030.1	496	tAt/tGt	0	.	G:0.0008	.	G:0	.	G	Y/C	protein_coding	YES	CCDS46809.1	1487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTATTATT	NONE	by1000G	.	.	G:0	.	ENSP00000310303	G:0	2/20	.	.	.	.	.	.	.	.	rs553067005	2/20	PASS	ENST00000309765	Transcript	.	G:0.0002	ENSG00000173769	24746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	G:0	tolerated(0.32)	.	TOPZ1_HUMAN	TOPAZ1	HGNC	.	.	UPI000047FF75	SNV	TOPAZ1,missense_variant,p.Tyr496Cys,ENST00000309765,;	1655	173	174	SUCCESS
BSN	8927	.	GRCh37	3	49691918	49691918	+	synonymous_variant	Silent	SNP	C	C	T	rs1330196798	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	53	0	ENST00000296452.4:c.4929C>T	p.Cys1643=	p.C1643=	ENST00000296452	NM_003458.3	1643	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS2800.1	4929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCCGGAT	NONE	.	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,synonymous_variant,p.%3D,ENST00000296452,;BSN,downstream_gene_variant,,ENST00000467456,;	5043	53	41	SUCCESS
BSN	8927	.	GRCh37	3	49692087	49692087	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	44	0	ENST00000296452.4:c.5098C>G	p.Leu1700Val	p.L1700V	ENST00000296452	NM_003458.3	1700	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2800.1	5098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCTGGAT	NONE	.	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Leu1700Val,ENST00000296452,;BSN,downstream_gene_variant,,ENST00000467456,;	5212	44	55	SUCCESS
POC1A	25886	.	GRCh37	3	52183235	52183235	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748450445	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	67	0	ENST00000296484.2:c.446G>T	p.Arg149Leu	p.R149L	ENST00000296484	NM_015426.4	149	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2846.1	446	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACAGCGGACC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF319,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000296484	.	4/11	.	.	.	.	.	.	.	.	rs748450445	4/11	PASS	ENST00000296484	Transcript	.	.	ENSG00000164087	24488	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	POC1A_HUMAN	POC1A	HGNC	B2RDV4_HUMAN	.	UPI000045711C	SNV	POC1A,missense_variant,p.Arg149Leu,ENST00000394970,;POC1A,missense_variant,p.Arg149Leu,ENST00000296484,;POC1A,missense_variant,p.Arg111Leu,ENST00000474012,;	486	67	72	SUCCESS
NEK4	6787	.	GRCh37	3	52786310	52786310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	29	125	0	ENST00000233027.5:c.1006G>T	p.Gly336Cys	p.G336C	ENST00000233027	NM_001193533.1	336	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS2863.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCAGAGG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF240	.	.	ENSP00000233027	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000233027	Transcript	.	.	ENSG00000114904	11399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.3)	.	NEK4_HUMAN	NEK4	HGNC	.	.	UPI000013C96A	SNV	NEK4,missense_variant,p.Gly336Cys,ENST00000233027,;NEK4,missense_variant,p.Gly247Cys,ENST00000461689,;NEK4,missense_variant,p.Gly336Cys,ENST00000383721,;NEK4,missense_variant,p.Gly247Cys,ENST00000535191,;NEK4,upstream_gene_variant,,ENST00000487068,;RP5-966M1.4,upstream_gene_variant,,ENST00000603353,;	1209	125	116	SUCCESS
FEZF2	55079	.	GRCh37	3	62358201	62358201	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	22	0	ENST00000283268.3:c.343G>C	p.Gly115Arg	p.G115R	ENST00000283268	NM_018008.3	115	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS2897.1	343	MUTECT|MUSE|VARSCANS	.	CCCGCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228	.	.	ENSP00000283268	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.989)	.	tolerated_low_confidence(0.39)	.	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,missense_variant,p.Gly115Arg,ENST00000283268,;FEZF2,missense_variant,p.Gly115Arg,ENST00000475839,;FEZF2,missense_variant,p.Gly115Arg,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	638	22	18	SUCCESS
MAGI1	9223	.	GRCh37	3	65365036	65365036	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	79	0	ENST00000402939.2:c.2895G>A	p.Val965=	p.V965=	ENST00000402939	NM_001033057.1	965	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33780.1	2895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCACGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF12,Superfamily_domains:SSF50156	.	.	ENSP00000385450	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000402939	Transcript	.	.	ENSG00000151276	946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGI1_HUMAN	MAGI1	HGNC	.	.	UPI0000457132	SNV	MAGI1,synonymous_variant,p.%3D,ENST00000463103,;MAGI1,synonymous_variant,p.%3D,ENST00000472257,;MAGI1,synonymous_variant,p.%3D,ENST00000402939,;MAGI1,synonymous_variant,p.%3D,ENST00000330909,;MAGI1,synonymous_variant,p.%3D,ENST00000460329,;MAGI1,synonymous_variant,p.%3D,ENST00000483466,;MAGI1,synonymous_variant,p.%3D,ENST00000497477,;MAGI1,non_coding_transcript_exon_variant,,ENST00000480729,;MAGI1,non_coding_transcript_exon_variant,,ENST00000468159,;	2895	79	79	SUCCESS
SETD5	55209	.	GRCh37	3	9485064	9485064	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	51	0	ENST00000402198.1:c.1150G>A	p.Glu384Lys	p.E384K	ENST00000402198	NM_001080517.1	384	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46741.1	1150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGAGGTC	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR16286:SF11,hmmpanther:PTHR16286,Gene3D:2.170.270.10,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000385852	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000402198	Transcript	.	.	ENSG00000168137	25566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SETD5_HUMAN	SETD5	HGNC	C9JLM1_HUMAN,C9JLA7_HUMAN,A8K0G4_HUMAN	.	UPI0000411FEE	SNV	SETD5,missense_variant,p.Glu286Lys,ENST00000402466,;SETD5,missense_variant,p.Glu403Lys,ENST00000407969,;SETD5,missense_variant,p.Glu384Lys,ENST00000402198,;SETD5,missense_variant,p.Glu286Lys,ENST00000302463,;SETD5,missense_variant,p.Glu52Lys,ENST00000399686,;SETD5,missense_variant,p.Glu384Lys,ENST00000406341,;SETD5,downstream_gene_variant,,ENST00000442373,;SETD5,upstream_gene_variant,,ENST00000421188,;SETD5,non_coding_transcript_exon_variant,,ENST00000497213,;SETD5,downstream_gene_variant,,ENST00000490791,;SETD5,upstream_gene_variant,,ENST00000488236,;SETD5,missense_variant,p.Glu51Lys,ENST00000413704,;SETD5,3_prime_UTR_variant,,ENST00000443339,;SETD5,non_coding_transcript_exon_variant,,ENST00000466242,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,upstream_gene_variant,,ENST00000464410,;SETD5,downstream_gene_variant,,ENST00000431285,;	1585	51	67	SUCCESS
EPHA6	285220	.	GRCh37	3	97251373	97251373	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	35	159	0	ENST00000389672.5:c.2372G>C	p.Gly791Ala	p.G791A	ENST00000389672	NM_001080448.2	791	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS46876.1	2372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGGGTTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000374323	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Gly157Ala,ENST00000442602,;EPHA6,missense_variant,p.Gly791Ala,ENST00000389672,;EPHA6,missense_variant,p.Gly183Ala,ENST00000502694,;EPHA6,missense_variant,p.Gly183Ala,ENST00000514100,;EPHA6,missense_variant,p.Gly157Ala,ENST00000477384,;EPHA6,missense_variant,p.Gly183Ala,ENST00000503760,;EPHA6,missense_variant,p.Gly157Ala,ENST00000508345,;	2410	159	137	SUCCESS
EPHA6	285220	.	GRCh37	3	97251374	97251374	+	synonymous_variant	Silent	SNP	G	G	T	rs369130484	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	35	160	0	ENST00000389672.5:c.2373G>T	p.Gly791=	p.G791=	ENST00000389672	NM_001080448.2	791	ggG/ggT	0	A:0.0005	.	.	.	.	T	G	protein_coding	YES	CCDS46876.1	2373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGGTTGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	A:0	ENSP00000374323	.	11/18	.	.	.	.	.	.	.	.	rs369130484	11/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,synonymous_variant,p.%3D,ENST00000442602,;EPHA6,synonymous_variant,p.%3D,ENST00000389672,;EPHA6,synonymous_variant,p.%3D,ENST00000502694,;EPHA6,synonymous_variant,p.%3D,ENST00000514100,;EPHA6,synonymous_variant,p.%3D,ENST00000477384,;EPHA6,synonymous_variant,p.%3D,ENST00000503760,;EPHA6,synonymous_variant,p.%3D,ENST00000508345,;	2411	160	138	SUCCESS
OR5K2	402135	.	GRCh37	3	98216699	98216699	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768543252	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	120	0	ENST00000427338.1:c.175A>T	p.Met59Leu	p.M59L	ENST00000427338	NM_001004737.1	59	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS33804.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAATGTAC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF38,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000393889	.	1/1	.	.	.	.	.	.	.	.	rs768543252	1/1	PASS	ENST00000427338	Transcript	.	.	ENSG00000231861	14774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	deleterious(0)	.	OR5K2_HUMAN	OR5K2	HGNC	.	.	UPI000004B1DF	SNV	OR5K2,missense_variant,p.Met59Leu,ENST00000427338,;CLDND1,downstream_gene_variant,,ENST00000507874,;CLDND1,downstream_gene_variant,,ENST00000502288,;	252	120	125	SUCCESS
C4orf21	0	.	GRCh37	4	113540196	113540196	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	114	0	ENST00000445203.2:c.909G>A	p.Gln303=	p.Q303=	ENST00000445203		303	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS3700.2	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCTGTGA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	.	.	ENSP00000424737	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,synonymous_variant,p.%3D,ENST00000309071,;C4orf21,synonymous_variant,p.%3D,ENST00000505019,;C4orf21,synonymous_variant,p.%3D,ENST00000445203,;C4orf21,downstream_gene_variant,,ENST00000503172,;C4orf21,synonymous_variant,p.%3D,ENST00000473015,;C4orf21,3_prime_UTR_variant,,ENST00000514770,;C4orf21,non_coding_transcript_exon_variant,,ENST00000264370,;C4orf21,downstream_gene_variant,,ENST00000502805,;C4orf21,downstream_gene_variant,,ENST00000512075,;	1128	114	98	SUCCESS
FAT4	79633	.	GRCh37	4	126238464	126238464	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	93	0	ENST00000394329.3:c.898C>T	p.Pro300Ser	p.P300S	ENST00000394329	NM_024582.4	300	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS3732.3	898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCCTGAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	COSM1194352,COSM1194351	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	.	1,1	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Pro300Ser,ENST00000394329,;	911	93	82	SUCCESS
C4orf45	152940	.	GRCh37	4	159836450	159836450	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	29	90	0	ENST00000434826.2:c.418C>A	p.His140Asn	p.H140N	ENST00000434826	NM_152543.2	140	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS47156.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATGCCAGG	NONE	.	.	.	.	.	ENSP00000412215	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.88)	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,missense_variant,p.His140Asn,ENST00000434826,;C4orf45,non_coding_transcript_exon_variant,,ENST00000505647,;C4orf45,non_coding_transcript_exon_variant,,ENST00000508011,;	503	90	135	SUCCESS
FAT1	2195	.	GRCh37	4	187628856	187628856	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	88	0	ENST00000441802.2:c.2126T>C	p.Val709Ala	p.V709A	ENST00000441802	NM_005245.3	709	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS47177.1	2126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGACAGAG	NONE	.	.	hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,missense_variant,p.Val709Ala,ENST00000441802,;FAT1,downstream_gene_variant,,ENST00000509647,;	2336	88	60	SUCCESS
KIT	3815	.	GRCh37	4	55598097	55598097	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1060502545	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	90	0	ENST00000288135.5:c.2294A>G	p.Asp765Gly	p.D765G	ENST00000288135	NM_000222.2	765	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3496.1	2294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGACTTAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112	.	.	ENSP00000288135	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0)	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Asp761Gly,ENST00000412167,;KIT,missense_variant,p.Asp765Gly,ENST00000288135,;KIT,non_coding_transcript_exon_variant,,ENST00000512959,;	2391	90	122	SUCCESS
CSN1S1	1446	.	GRCh37	4	70810724	70810724	+	splice_donor_variant	Splice_Site	SNP	T	T	C	rs1424869577	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	104	0	ENST00000246891.4:c.557+2T>C		p.X186_splice	ENST00000246891	NM_001890.1	186		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47067.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTAAGTT	NONE	.	.	.	.	.	ENSP00000246891	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000246891	Transcript	.	.	ENSG00000126545	2445	.	.	HIGH	15/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASA1_HUMAN	CSN1S1	HGNC	.	.	UPI0000126FCB	SNV	CSN1S1,splice_donor_variant,,ENST00000505782,;CSN1S1,splice_donor_variant,,ENST00000510936,;CSN1S1,splice_donor_variant,,ENST00000507763,;CSN1S1,splice_donor_variant,,ENST00000246891,;CSN1S1,splice_donor_variant,,ENST00000444405,;CSN1S1,splice_donor_variant,,ENST00000507772,;	.	104	104	SUCCESS
GRSF1	2926	.	GRCh37	4	71698027	71698027	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	104	0	ENST00000254799.6:c.811G>T	p.Ala271Ser	p.A271S	ENST00000254799	NM_002092.3	271	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47069.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCAAAGA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF26,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000254799	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000254799	Transcript	.	.	ENSG00000132463	4610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	tolerated(0.96)	.	GRSF1_HUMAN	GRSF1	HGNC	.	.	UPI0001838834	SNV	GRSF1,missense_variant,p.Ala244Ser,ENST00000499044,;GRSF1,missense_variant,p.Ala109Ser,ENST00000439371,;GRSF1,missense_variant,p.Ala153Ser,ENST00000545193,;GRSF1,missense_variant,p.Ala208Ser,ENST00000514161,;GRSF1,missense_variant,p.Ala271Ser,ENST00000254799,;GRSF1,missense_variant,p.Ala109Ser,ENST00000502323,;GRSF1,intron_variant,,ENST00000508091,;GRSF1,missense_variant,p.Ala81Ser,ENST00000506453,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;	929	104	94	SUCCESS
ALB	213	.	GRCh37	4	74285989	74285989	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	32	176	0	ENST00000295897.4:c.1804G>T	p.Ala602Ser	p.A602S	ENST00000295897	NM_000477.5	602	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3555.1	1804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGCAAGT	NONE	.	.	hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.93)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Ala447Ser,ENST00000511370,;ALB,missense_variant,p.Ala410Ser,ENST00000415165,;ALB,missense_variant,p.Ala602Ser,ENST00000295897,;ALB,missense_variant,p.Ala452Ser,ENST00000503124,;ALB,missense_variant,p.Ala487Ser,ENST00000401494,;ALB,intron_variant,,ENST00000509063,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1893	176	154	SUCCESS
ART3	419	.	GRCh37	4	77020195	77020195	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	30	120	0	ENST00000355810.4:c.847+55C>A		p.*283*	ENST00000355810	NM_001130016.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47079.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCTGTAA	NONE	.	.	.	.	.	ENSP00000348064	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355810	Transcript	.	.	ENSG00000156219	725	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAR3_HUMAN	ART3	HGNC	Q5J1Q0_HUMAN,Q5J1P8_HUMAN,Q5J1K8_HUMAN,Q5J1K7_HUMAN,E9PGR5_HUMAN,E7EX61_HUMAN,E7ESB3_HUMAN,E7ER42_HUMAN	.	UPI000012FD7B	SNV	ART3,intron_variant,,ENST00000349321,;ART3,intron_variant,,ENST00000355810,;ART3,intron_variant,,ENST00000341029,;ART3,intron_variant,,ENST00000511188,;AC112719.1,downstream_gene_variant,,ENST00000582318,;ART3,non_coding_transcript_exon_variant,,ENST00000513494,;ART3,intron_variant,,ENST00000506313,;ART3,intron_variant,,ENST00000395688,;ART3,intron_variant,,ENST00000510669,;ART3,intron_variant,,ENST00000506667,;ART3,intron_variant,,ENST00000504112,;	.	120	102	SUCCESS
FRAS1	80144	.	GRCh37	4	79387360	79387360	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	99	0	ENST00000264895.6:c.7030-2A>C		p.X2344_splice	ENST00000264895	NM_025074.6	2344		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54771.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGGACAGGCCG	NONE	.	.	.	.	.	ENSP00000264895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	HIGH	49/73	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,splice_acceptor_variant,,ENST00000512123,;FRAS1,splice_acceptor_variant,,ENST00000264895,;	.	99	79	SUCCESS
SH3TC1	54436	.	GRCh37	4	8229789	8229789	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1227501885	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	135	0	ENST00000245105.3:c.2368A>G	p.Thr790Ala	p.T790A	ENST00000245105	NM_018986.3	790	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3399.1	2368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACACCAGC	NONE	.	.	Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3	.	.	ENSP00000245105	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000245105	Transcript	.	.	ENSG00000125089	26009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.7)	.	S3TC1_HUMAN	SH3TC1	HGNC	F5GXD3_HUMAN,E7EQR1_HUMAN,D6RC98_HUMAN	.	UPI000013CB93	SNV	SH3TC1,missense_variant,p.Thr790Ala,ENST00000245105,;SH3TC1,missense_variant,p.Thr714Ala,ENST00000539824,;SH3TC1,downstream_gene_variant,,ENST00000514274,;SH3TC1,upstream_gene_variant,,ENST00000507801,;SH3TC1,3_prime_UTR_variant,,ENST00000502669,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,upstream_gene_variant,,ENST00000508183,;SH3TC1,upstream_gene_variant,,ENST00000513495,;SH3TC1,downstream_gene_variant,,ENST00000508438,;SH3TC1,upstream_gene_variant,,ENST00000511002,;SH3TC1,downstream_gene_variant,,ENST00000509553,;SH3TC1,upstream_gene_variant,,ENST00000502350,;SH3TC1,upstream_gene_variant,,ENST00000502559,;	2435	135	107	SUCCESS
HTRA3	94031	.	GRCh37	4	8293260	8293260	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	106	0	ENST00000307358.2:c.872T>A	p.Met291Lys	p.M291K	ENST00000307358	NM_053044.3	291	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS3400.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACATGGACT	NONE	.	.	Prints_domain:PR00834,Superfamily_domains:SSF50494,Pfam_domain:PF13365,Gene3D:2.40.10.10,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939	.	.	ENSP00000303766	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000307358	Transcript	.	.	ENSG00000170801	30406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	HTRA3_HUMAN	HTRA3	HGNC	.	.	UPI0000001647	SNV	HTRA3,missense_variant,p.Met291Lys,ENST00000382512,;HTRA3,missense_variant,p.Met291Lys,ENST00000307358,;	1076	106	91	SUCCESS
PDLIM5	10611	.	GRCh37	4	95507590	95507590	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	65	0	ENST00000317968.4:c.915G>A	p.Lys305=	p.K305=	ENST00000317968	NM_001256428.1	305	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS58916.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGGCAAA	NONE	.	.	hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF32	.	.	ENSP00000424360	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000514743	Transcript	.	.	ENSG00000163110	17468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDLIM5	HGNC	D6RB78_HUMAN	.	UPI000013E231	SNV	PDLIM5,synonymous_variant,p.%3D,ENST00000317968,;PDLIM5,synonymous_variant,p.%3D,ENST00000513341,;PDLIM5,synonymous_variant,p.%3D,ENST00000538141,;PDLIM5,synonymous_variant,p.%3D,ENST00000380180,;PDLIM5,synonymous_variant,p.%3D,ENST00000318007,;PDLIM5,synonymous_variant,p.%3D,ENST00000503974,;PDLIM5,synonymous_variant,p.%3D,ENST00000450793,;PDLIM5,synonymous_variant,p.%3D,ENST00000437932,;PDLIM5,synonymous_variant,p.%3D,ENST00000514743,;PDLIM5,synonymous_variant,p.%3D,ENST00000542407,;PDLIM5,synonymous_variant,p.%3D,ENST00000508216,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000380176,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000511586,;PDLIM5,downstream_gene_variant,,ENST00000508531,;PDLIM5,downstream_gene_variant,,ENST00000514830,;PDLIM5,synonymous_variant,p.%3D,ENST00000506632,;PDLIM5,3_prime_UTR_variant,,ENST00000509357,;	650	65	75	SUCCESS
SLC12A7	10723	.	GRCh37	5	1073787	1073787	+	synonymous_variant	Silent	SNP	C	C	T	rs564599238	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	24	117	0	ENST00000264930.5:c.2202G>A	p.Thr734=	p.T734=	ENST00000264930	NM_006598.2	734	acG/acA	0	.	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS34129.1	2202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTACGTCCC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	T:0	.	ENSP00000264930	T:0	17/24	.	.	.	.	.	.	.	.	rs564599238	17/24	common_in_exac	ENST00000264930	Transcript	.	T:0.0006	ENSG00000113504	10915	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0031	.	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,synonymous_variant,p.%3D,ENST00000513223,;SLC12A7,synonymous_variant,p.%3D,ENST00000264930,;SLC12A7,downstream_gene_variant,,ENST00000504576,;SLC12A7,downstream_gene_variant,,ENST00000510943,;	2246	117	101	SUCCESS
FBN2	2201	.	GRCh37	5	127680112	127680112	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	32	164	0	ENST00000262464.4:c.3308G>T	p.Gly1103Val	p.G1103V	ENST00000262464	NM_001999.3	1103	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS34222.1	3308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCCACTA	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	31/71	.	.	.	.	.	.	.	.	.	31/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Gly1103Val,ENST00000262464,;FBN2,missense_variant,p.Gly1103Val,ENST00000508053,;FBN2,missense_variant,p.Gly1070Val,ENST00000508989,;	4283	164	118	SUCCESS
SLC6A7	6534	.	GRCh37	5	149580667	149580667	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	49	0	ENST00000230671.2:c.739G>T	p.Ala247Ser	p.A247S	ENST00000230671	NM_014228.3	247	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4305.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACGGCCACG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF35,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000230671	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000230671	Transcript	.	.	ENSG00000011083	11054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	SC6A7_HUMAN	SLC6A7	HGNC	.	.	UPI000013C93C	SNV	SLC6A7,missense_variant,p.Ala247Ser,ENST00000230671,;SLC6A7,missense_variant,p.Ala247Ser,ENST00000524041,;	1110	49	58	SUCCESS
TIMD4	91937	.	GRCh37	5	156378589	156378589	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781089950	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	67	232	0	ENST00000274532.2:c.613C>A	p.Leu205Ile	p.L205I	ENST00000274532	NM_138379.2	205	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS4332.1	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAGGGTGC	NONE	.	.	hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498	.	.	ENSP00000274532	.	3/9	.	.	.	.	.	.	.	.	rs781089950	3/9	PASS	ENST00000274532	Transcript	.	.	ENSG00000145850	25132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	tolerated(0.13)	.	TIMD4_HUMAN	TIMD4	HGNC	B5MCV9_HUMAN	.	UPI000013DA13	SNV	TIMD4,missense_variant,p.Leu205Ile,ENST00000274532,;TIMD4,missense_variant,p.Leu205Ile,ENST00000407087,;	670	232	223	SUCCESS
FNDC9	408263	.	GRCh37	5	156770032	156770032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	112	0	ENST00000312349.4:c.513G>T	p.Arg171Ser	p.R171S	ENST00000312349	NM_001001343.3	171	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4337.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCCTCTG	NONE	.	.	.	.	.	ENSP00000310594	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312349	Transcript	.	.	ENSG00000172568	33547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.47)	.	FNDC9_HUMAN	FNDC9	HGNC	E5RIJ1_HUMAN	.	UPI000013F2AC	SNV	FNDC9,missense_variant,p.Arg171Ser,ENST00000520782,;FNDC9,missense_variant,p.Arg171Ser,ENST00000312349,;CYFIP2,intron_variant,,ENST00000377576,;CYFIP2,intron_variant,,ENST00000541131,;CYFIP2,intron_variant,,ENST00000318218,;CYFIP2,intron_variant,,ENST00000435847,;CYFIP2,intron_variant,,ENST00000442283,;CYFIP2,intron_variant,,ENST00000347377,;CYFIP2,intron_variant,,ENST00000522463,;CYFIP2,intron_variant,,ENST00000521420,;CYFIP2,intron_variant,,ENST00000517753,;CYFIP2,intron_variant,,ENST00000523119,;CYFIP2,intron_variant,,ENST00000523969,;CYFIP2,intron_variant,,ENST00000520759,;CYFIP2,intron_variant,,ENST00000519153,;CYFIP2,downstream_gene_variant,,ENST00000520424,;	701	112	109	SUCCESS
GABRA6	2559	.	GRCh37	5	161116767	161116767	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	33	180	0	ENST00000274545.5:c.655A>T	p.Thr219Ser	p.T219S	ENST00000274545		219	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4356.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGACAATT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079	.	.	ENSP00000274545	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	tolerated(0.25)	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,missense_variant,p.Thr209Ser,ENST00000523217,;GABRA6,missense_variant,p.Thr159Ser,ENST00000520000,;GABRA6,missense_variant,p.Thr219Ser,ENST00000274545,;GABRA6,missense_variant,p.Thr166Ser,ENST00000517823,;GABRA6,missense_variant,p.Thr139Ser,ENST00000523691,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	1088	180	164	SUCCESS
GABRA1	2554	.	GRCh37	5	161318012	161318012	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	75	0	ENST00000023897.6:c.812C>A	p.Ser271Tyr	p.S271Y	ENST00000023897	NM_000806.5	271	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS4357.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000393097	.	9/11	.	.	.	.	.	.	.	.	COSM3247904	9/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.761)	.	deleterious(0)	1	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Ser271Tyr,ENST00000444819,;GABRA1,missense_variant,p.Ser271Tyr,ENST00000420560,;GABRA1,missense_variant,p.Ser271Tyr,ENST00000393943,;GABRA1,missense_variant,p.Ser271Tyr,ENST00000023897,;GABRA1,missense_variant,p.Ser271Tyr,ENST00000437025,;GABRA1,missense_variant,p.Ser271Tyr,ENST00000428797,;GABRA1,downstream_gene_variant,,ENST00000519542,;	1167	76	75	SUCCESS
DOCK2	1794	.	GRCh37	5	169494671	169494671	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	88	0	ENST00000256935.8:c.4625G>T	p.Gly1542Val	p.G1542V	ENST00000256935	NM_004946.2	1542	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4371.1	4625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCTTCG	BUFFER|p.F1543F|c.4629C>T|3	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000256935	.	45/52	.	.	.	.	.	.	.	.	.	45/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Gly603Val,ENST00000540750,;DOCK2,missense_variant,p.Gly1542Val,ENST00000256935,;DOCK2,missense_variant,p.Gly1034Val,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	4705	88	84	SUCCESS
CDHR2	54825	.	GRCh37	5	175995968	175995968	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	61	0	ENST00000261944.5:c.272A>G	p.Tyr91Cys	p.Y91C	ENST00000261944	NM_017675.4	91	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34297.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTACACAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF286,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000424565	.	5/32	.	.	.	.	.	.	.	.	.	5/32	PASS	ENST00000510636	Transcript	.	.	ENSG00000074276	18231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.17)	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,missense_variant,p.Tyr91Cys,ENST00000261944,;CDHR2,missense_variant,p.Tyr91Cys,ENST00000506348,;CDHR2,missense_variant,p.Tyr91Cys,ENST00000510636,;CDHR2,downstream_gene_variant,,ENST00000510124,;	546	61	64	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5232631	5232631	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	32	0	ENST00000274181.7:c.1850+2T>C		p.X617_splice	ENST00000274181	NM_139056.2	617		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43299.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000274181	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	HIGH	12/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,splice_donor_variant,,ENST00000274181,;ADAMTS16,upstream_gene_variant,,ENST00000513709,;ADAMTS16,splice_donor_variant,,ENST00000433402,;	.	32	25	SUCCESS
ADAMTS6	11174	.	GRCh37	5	64748039	64748039	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	55	198	1	ENST00000381055.3:c.848C>A	p.Ala283Asp	p.A283D	ENST00000381055	NM_197941.2	283	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS3983.2	848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGGCAACC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000370443	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000381055	Transcript	.	.	ENSG00000049192	222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS6_HUMAN	ADAMTS6	HGNC	Q5IR90_HUMAN	.	UPI000050D3F1	SNV	ADAMTS6,missense_variant,p.Ala283Asp,ENST00000536360,;ADAMTS6,missense_variant,p.Ala283Asp,ENST00000464680,;ADAMTS6,missense_variant,p.Ala283Asp,ENST00000381055,;ADAMTS6,missense_variant,p.Pro285Thr,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000502886,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;	1705	199	196	SUCCESS
LINC00518	221718	.	GRCh37	6	10430233	10430233	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	114	0	ENST00000496285.1:n.803C>A		p.*268*	ENST00000496285				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGTAATC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000496285	Transcript	.	.	ENSG00000183674	28626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00518	HGNC	.	.	.	SNV	LINC00518,non_coding_transcript_exon_variant,,ENST00000496285,;LINC00518,non_coding_transcript_exon_variant,,ENST00000487130,;LINC00518,non_coding_transcript_exon_variant,,ENST00000491317,;LINC00518,non_coding_transcript_exon_variant,,ENST00000479822,;LINC00518,non_coding_transcript_exon_variant,,ENST00000472178,;RP1-290I10.7,upstream_gene_variant,,ENST00000449333,;RP1-290I10.3,upstream_gene_variant,,ENST00000420389,;RP1-290I10.7,upstream_gene_variant,,ENST00000366312,;	803	114	102	SUCCESS
BEND3	57673	.	GRCh37	6	107390740	107390740	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	45	0	ENST00000369042.1:c.1655A>G	p.Asp552Gly	p.D552G	ENST00000369042		552	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34507.1	1655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGTCGGCA	NONE	.	.	PROSITE_profiles:PS51457	.	.	ENSP00000411268	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429433	Transcript	.	.	ENSG00000178409	23040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	deleterious(0.02)	.	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	SNV	BEND3,missense_variant,p.Asp552Gly,ENST00000429433,;BEND3,missense_variant,p.Asp552Gly,ENST00000369042,;	2305	45	32	SUCCESS
SYNE1	23345	.	GRCh37	6	152690719	152690719	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	87	0	ENST00000367255.5:c.9538del	p.Val3180Ter	p.V3180*	ENST00000367255	NM_182961.3	3180	Gta/ta	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS5236.2	9538	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTTACTTCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	60/146	.	.	.	.	.	.	.	.	.	60/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	deletion	SYNE1,frameshift_variant,p.Val297Ter,ENST00000454018,;SYNE1,frameshift_variant,p.Val3187Ter,ENST00000448038,;SYNE1,frameshift_variant,p.Val45Ter,ENST00000469439,;SYNE1,frameshift_variant,p.Val3180Ter,ENST00000367255,;SYNE1,frameshift_variant,p.Val3187Ter,ENST00000423061,;SYNE1,frameshift_variant,p.Val3219Ter,ENST00000341594,;SYNE1,frameshift_variant,p.Val3180Ter,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	10140	87	97	SUCCESS
OPRM1	4988	.	GRCh37	6	154412084	154412084	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	86	0	ENST00000330432.7:c.644-3T>C		p.X215_splice	ENST00000330432	NM_000914.3	215		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47503.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTAGGTT	NONE	.	.	.	.	.	ENSP00000394624	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	LOW	4/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,splice_region_variant,,ENST00000337049,;OPRM1,splice_region_variant,,ENST00000428397,;OPRM1,splice_region_variant,,ENST00000360422,;OPRM1,splice_region_variant,,ENST00000452687,;OPRM1,splice_region_variant,,ENST00000330432,;OPRM1,splice_region_variant,,ENST00000435918,;OPRM1,splice_region_variant,,ENST00000518759,;OPRM1,splice_region_variant,,ENST00000414028,;OPRM1,splice_region_variant,,ENST00000419506,;OPRM1,splice_region_variant,,ENST00000434900,;OPRM1,splice_region_variant,,ENST00000524163,;OPRM1,splice_region_variant,,ENST00000522236,;OPRM1,splice_region_variant,,ENST00000520708,;OPRM1,splice_region_variant,,ENST00000522555,;OPRM1,splice_region_variant,,ENST00000229768,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,splice_region_variant,,ENST00000522382,;OPRM1,splice_region_variant,,ENST00000519613,;OPRM1,splice_region_variant,,ENST00000521106,;OPRM1,splice_region_variant,,ENST00000522739,;OPRM1,splice_region_variant,,ENST00000519083,;OPRM1,splice_region_variant,,ENST00000524150,;	.	86	93	SUCCESS
ZNF322	79692	.	GRCh37	6	26637863	26637863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	137	0	ENST00000415922.2:c.919G>T	p.Asp307Tyr	p.D307Y	ENST00000415922	NM_024639.4	307	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS4617.1	919	RADIA|VARSCANS	.	AAGATCTGAGC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24377:SF118,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000418897	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000415922	Transcript	.	.	ENSG00000181315	23640	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.248)	.	tolerated(0.38)	.	ZN322_HUMAN	ZNF322	HGNC	C9JP13_HUMAN	.	UPI00000437CC	SNV	ZNF322,missense_variant,p.Asp307Tyr,ENST00000415922,;ZNF322,missense_variant,p.Asp307Tyr,ENST00000471278,;ZNF322,downstream_gene_variant,,ENST00000480036,;RP11-457M11.2,upstream_gene_variant,,ENST00000607204,;RP11-457M11.2,upstream_gene_variant,,ENST00000456172,;ZNF322,downstream_gene_variant,,ENST00000465674,;ZNF322,downstream_gene_variant,,ENST00000461899,;	1565	137	87	SUCCESS
NCR3	259197	.	GRCh37	6	31557387	31557387	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752238331	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	37	55	0	ENST00000340027.5:c.412A>G	p.Thr138Ala	p.T138A	ENST00000340027	NM_147130.2	138	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34397.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTACCAG	NONE	.	.	hmmpanther:PTHR23277:SF59,hmmpanther:PTHR23277	.	.	ENSP00000342156	.	3/4	.	.	.	.	.	.	.	.	rs752238331,COSM461815	3/4	PASS	ENST00000340027	Transcript	.	.	ENSG00000204475	19077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	.	tolerated(0.13)	0,1	NCTR3_HUMAN	NCR3	HGNC	.	.	UPI0000073DEE	SNV	NCR3,missense_variant,p.Thr138Ala,ENST00000340027,;NCR3,missense_variant,p.Thr113Ala,ENST00000376071,;NCR3,missense_variant,p.Thr138Ala,ENST00000376073,;NCR3,missense_variant,p.Thr138Ala,ENST00000376072,;LST1,downstream_gene_variant,,ENST00000376111,;LST1,downstream_gene_variant,,ENST00000376099,;LST1,downstream_gene_variant,,ENST00000376102,;LST1,downstream_gene_variant,,ENST00000339530,;LST1,downstream_gene_variant,,ENST00000376110,;LST1,downstream_gene_variant,,ENST00000376086,;LST1,downstream_gene_variant,,ENST00000376100,;LST1,downstream_gene_variant,,ENST00000433492,;LST1,downstream_gene_variant,,ENST00000464044,;LST1,downstream_gene_variant,,ENST00000438075,;LST1,downstream_gene_variant,,ENST00000376090,;LST1,downstream_gene_variant,,ENST00000396101,;LST1,downstream_gene_variant,,ENST00000376092,;LST1,downstream_gene_variant,,ENST00000303757,;LST1,downstream_gene_variant,,ENST00000376093,;LST1,downstream_gene_variant,,ENST00000376089,;LST1,downstream_gene_variant,,ENST00000418507,;LST1,downstream_gene_variant,,ENST00000376096,;LST1,downstream_gene_variant,,ENST00000396112,;LST1,downstream_gene_variant,,ENST00000490742,;LST1,downstream_gene_variant,,ENST00000211921,;NCR3,non_coding_transcript_exon_variant,,ENST00000491161,;NCR3,non_coding_transcript_exon_variant,,ENST00000495600,;LST1,downstream_gene_variant,,ENST00000419073,;LST1,downstream_gene_variant,,ENST00000464526,;LST1,downstream_gene_variant,,ENST00000460834,;	676	55	86	SUCCESS
TREML1	340205	.	GRCh37	6	41122032	41122032	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs767150801	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	71	0	ENST00000426005.2:c.-6C>A		p.*2*	ENST00000426005	NM_178174.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4851.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGCAGA	NONE	.	.	.	.	.	ENSP00000402855	.	1/6	.	.	.	.	.	.	.	.	rs767150801	1/6	PASS	ENST00000426005	Transcript	.	.	ENSG00000161911	20434	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRML1_HUMAN	TREML1	HGNC	.	.	UPI0000074451	SNV	TREML1,5_prime_UTR_variant,,ENST00000373127,;TREML1,5_prime_UTR_variant,,ENST00000426005,;TREML1,5_prime_UTR_variant,,ENST00000437044,;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,;TREM2,downstream_gene_variant,,ENST00000373113,;TREML1,upstream_gene_variant,,ENST00000590581,;	39	71	55	SUCCESS
DOPEY1	0	.	GRCh37	6	83846990	83846990	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	55	249	0	ENST00000349129.2:c.3229G>T	p.Asp1077Tyr	p.D1077Y	ENST00000349129	NM_015018.3	1077	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4996.1	3229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTGACAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	.	ENSP00000195654	.	21/39	.	.	.	.	.	.	.	.	.	21/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,missense_variant,p.Asp1058Tyr,ENST00000237163,;DOPEY1,missense_variant,p.Asp1068Tyr,ENST00000369739,;DOPEY1,missense_variant,p.Asp1077Tyr,ENST00000349129,;DOPEY1,upstream_gene_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000493541,;	3489	249	249	SUCCESS
MUC17	140453	.	GRCh37	7	100683981	100683981	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	55	0	ENST00000306151.4:c.9284T>G	p.Met3095Arg	p.M3095R	ENST00000306151	NM_001040105.1	3095	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS34711.1	9284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATGCCAA	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.769)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Met3095Arg,ENST00000306151,;MUC17,missense_variant,p.Met3095Arg,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	9348	55	71	SUCCESS
DLD	1738	.	GRCh37	7	107556141	107556141	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs201652869	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	90	1	ENST00000205402.5:c.875C>T	p.Ser292Phe	p.S292F	ENST00000205402	NM_000108.3	292	tCt/tTt	0	T:0	.	.	.	.	T	S/F	protein_coding	YES	CCDS5749.1	875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCGTAAG	NONE	byCluster	.	Superfamily_domains:SSF51905,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01350,Pfam_domain:PF07992,Pfam_domain:PF00070,hmmpanther:PTHR22912:SF20,hmmpanther:PTHR22912	.	T:0.0001	ENSP00000205402	.	9/14	.	.	.	.	.	.	.	.	rs201652869,COSM175563	9/14	PASS	ENST00000205402	Transcript	.	.	ENSG00000091140	2898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.853)	.	deleterious(0.02)	0,1	DLDH_HUMAN	DLD	HGNC	B4DHG0_HUMAN	.	UPI0000072725	SNV	DLD,missense_variant,p.Ser292Phe,ENST00000205402,;DLD,missense_variant,p.Ser244Phe,ENST00000437604,;DLD,missense_variant,p.Ser269Phe,ENST00000440410,;DLD,missense_variant,p.Ser193Phe,ENST00000537148,;DLD,missense_variant,p.Ser292Phe,ENST00000417551,;DLD,splice_region_variant,,ENST00000415325,;DLD,downstream_gene_variant,,ENST00000451081,;	1156	91	101	SUCCESS
PHF14	9678	.	GRCh37	7	11076165	11076165	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	248	45	194	0	ENST00000403050.3:c.1723del	p.Ala575LeufsTer46	p.A575Lfs*46	ENST00000403050	NM_014660.3	575	Gct/ct	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS47542.1	1723	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTCAGCTATT	NONE	.	.	hmmpanther:PTHR13793:SF10,hmmpanther:PTHR13793	.	.	ENSP00000385795	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000403050	Transcript	.	.	ENSG00000106443	22203	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHF14_HUMAN	PHF14	HGNC	.	.	UPI000020EB41	deletion	PHF14,frameshift_variant,p.Ala290LeufsTer46,ENST00000445996,;PHF14,frameshift_variant,p.Ala575LeufsTer46,ENST00000403050,;PHF14,3_prime_UTR_variant,,ENST00000521747,;PHF14,3_prime_UTR_variant,,ENST00000423760,;PHF14,non_coding_transcript_exon_variant,,ENST00000497851,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;	2175	194	293	SUCCESS
ST7	7982	.	GRCh37	7	116759650	116759653	+	frameshift_variant	Frame_Shift_Del	DEL	TTCA	TTCA	-	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	TTCA	TTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	73	21	76	0	ENST00000265437.5:c.276_279del	p.Phe92LeufsTer6	p.F92Lfs*6	ENST00000265437	NM_021908.2	90	acTTCA/ac	0	.	.	.	.	.	-	TS/X	protein_coding	YES	CCDS5770.1	270-273	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGAACTTCATTCAT	NONE	.	.	hmmpanther:PTHR12745,Pfam_domain:PF04184	.	.	ENSP00000265437	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000265437	Transcript	.	.	ENSG00000004866	11351	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ST7_HUMAN	ST7	HGNC	Q9NRC0_HUMAN,C9JZV9_HUMAN,C9JX79_HUMAN,C9JRQ0_HUMAN,C9JCI7_HUMAN	.	UPI00000702A3	deletion	ST7,frameshift_variant,p.Phe42LeufsTer6,ENST00000393443,;ST7,frameshift_variant,p.Phe92LeufsTer6,ENST00000393449,;ST7,frameshift_variant,p.Phe42LeufsTer6,ENST00000417919,;ST7,frameshift_variant,p.Phe46LeufsTer6,ENST00000422922,;ST7,frameshift_variant,p.Phe46LeufsTer6,ENST00000432298,;ST7,frameshift_variant,p.Phe92LeufsTer6,ENST00000446490,;ST7,frameshift_variant,p.Phe49LeufsTer6,ENST00000393447,;ST7,frameshift_variant,p.Phe92LeufsTer6,ENST00000393451,;ST7,frameshift_variant,p.Phe40LeufsTer6,ENST00000490039,;ST7,frameshift_variant,p.Phe92LeufsTer6,ENST00000393446,;ST7,frameshift_variant,p.Phe40LeufsTer6,ENST00000477742,;ST7,frameshift_variant,p.Phe92LeufsTer6,ENST00000323984,;ST7,frameshift_variant,p.Phe40LeufsTer6,ENST00000420755,;ST7,frameshift_variant,p.Phe42LeufsTer6,ENST00000449366,;ST7,frameshift_variant,p.Phe92LeufsTer6,ENST00000265437,;ST7,frameshift_variant,p.Phe40LeufsTer6,ENST00000421345,;ST7,frameshift_variant,p.Phe49LeufsTer6,ENST00000465133,;ST7,frameshift_variant,p.Phe49LeufsTer6,ENST00000393444,;ST7-AS2,intron_variant,,ENST00000432541,;ST7-AS2,intron_variant,,ENST00000442719,;ST7-AS2,intron_variant,,ENST00000434993,;ST7,non_coding_transcript_exon_variant,,ENST00000487459,;ST7,intron_variant,,ENST00000467538,;ST7,upstream_gene_variant,,ENST00000489293,;ST7,3_prime_UTR_variant,,ENST00000438863,;ST7,intron_variant,,ENST00000443979,;	484-487	76	94	SUCCESS
FAM3C	10447	.	GRCh37	7	121002990	121002990	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	110	0	ENST00000359943.3:c.343G>T	p.Glu115Ter	p.E115*	ENST00000359943	NM_014888.2	115	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5782.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCTCCTG	NONE	.	.	hmmpanther:PTHR14592:SF10,hmmpanther:PTHR14592	.	.	ENSP00000353025	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000359943	Transcript	.	.	ENSG00000196937	18664	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAM3C_HUMAN	FAM3C	HGNC	C9JP35_HUMAN,C9JMN4_HUMAN	.	UPI000000DB90	SNV	FAM3C,stop_gained,p.Glu115Ter,ENST00000412653,;FAM3C,stop_gained,p.Glu115Ter,ENST00000359943,;FAM3C,stop_gained,p.Glu85Ter,ENST00000426156,;FAM3C,non_coding_transcript_exon_variant,,ENST00000497622,;	557	110	84	SUCCESS
EPHB6	2051	.	GRCh37	7	142563351	142563351	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	57	0	ENST00000392957.2:c.1068G>C	p.Arg356=	p.R356=	ENST00000392957	NM_004445.4	356	cgG/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS5873.2	1068	RADIA|MUTECT|MUSE|VARSCANS	.	TACCGGGCCAG	NONE	.	.	hmmpanther:PTHR24416:SF300,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF57184	.	.	ENSP00000376684	.	8/20	.	.	.	.	.	.	.	.	COSM85081	8/20	PASS	ENST00000392957	Transcript	.	.	ENSG00000106123	3396	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	EPHB6_HUMAN	EPHB6	HGNC	.	.	UPI00006635A8	SNV	EPHB6,synonymous_variant,p.%3D,ENST00000442129,;EPHB6,synonymous_variant,p.%3D,ENST00000411471,;EPHB6,synonymous_variant,p.%3D,ENST00000392957,;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;EPHB6,upstream_gene_variant,,ENST00000486511,;EPHB6,upstream_gene_variant,,ENST00000471581,;	1855	57	38	SUCCESS
EPHB6	2051	.	GRCh37	7	142565796	142565796	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	61	261	0	ENST00000392957.2:c.1907G>A	p.Ser636Asn	p.S636N	ENST00000392957	NM_004445.4	636	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS5873.2	1907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGCAGCC	NONE	.	.	hmmpanther:PTHR24416:SF300,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	.	.	ENSP00000376684	.	13/20	.	.	.	.	.	.	.	.	COSM1699478	13/20	PASS	ENST00000392957	Transcript	.	.	ENSG00000106123	3396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.48)	1	EPHB6_HUMAN	EPHB6	HGNC	.	.	UPI00006635A8	SNV	EPHB6,missense_variant,p.Ser636Asn,ENST00000442129,;EPHB6,missense_variant,p.Ser359Asn,ENST00000411471,;EPHB6,missense_variant,p.Ser636Asn,ENST00000392957,;TRPV6,downstream_gene_variant,,ENST00000359396,;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000486511,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;TRPV6,downstream_gene_variant,,ENST00000463646,;TRPV6,downstream_gene_variant,,ENST00000485138,;TRPV6,downstream_gene_variant,,ENST00000487077,;EPHB6,upstream_gene_variant,,ENST00000471581,;	2694	261	236	SUCCESS
ELFN1	392617	.	GRCh37	7	1784532	1784532	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	90	0	ENST00000424383.2:c.300G>C	p.Glu100Asp	p.E100D	ENST00000424383		100	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS59046.1	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGAGGACGG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF34,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000456548	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000424383	Transcript	.	.	ENSG00000225968	33154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.747)	.	deleterious(0.01)	.	ELFN1_HUMAN	ELFN1	HGNC	.	.	UPI0000251E11	SNV	ELFN1,missense_variant,p.Glu100Asp,ENST00000561626,;ELFN1,missense_variant,p.Glu100Asp,ENST00000424383,;ELFN1,missense_variant,p.Glu100Asp,ENST00000541472,;AC074389.9,upstream_gene_variant,,ENST00000415399,;AC074389.9,upstream_gene_variant,,ENST00000453348,;	787	90	83	SUCCESS
HDAC9	9734	.	GRCh37	7	18801900	18801900	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	25	156	0	ENST00000432645.2:c.2155G>T	p.Gly719Cys	p.G719C	ENST00000432645	NM_058176.2	719	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS47553.1	2164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTAGGTCTG	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768	.	.	ENSP00000408617	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0.01)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Gly678Cys,ENST00000401921,;HDAC9,missense_variant,p.Gly719Cys,ENST00000406451,;HDAC9,missense_variant,p.Gly719Cys,ENST00000432645,;HDAC9,missense_variant,p.Gly722Cys,ENST00000441542,;HDAC9,splice_region_variant,,ENST00000461159,;HDAC9,splice_region_variant,,ENST00000523867,;	2164	156	140	SUCCESS
ITGB8	3696	.	GRCh37	7	20406804	20406804	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs139414321	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	53	0	ENST00000222573.4:c.383G>T	p.Arg128Leu	p.R128L	ENST00000222573	NM_002214.2	128	cGt/cTt	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS5370.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGTCCAG	NONE	byCluster	.	hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Prints_domain:PR01186	.	A:0	ENSP00000222573	.	3/14	.	.	.	.	.	.	.	.	rs139414321	3/14	PASS	ENST00000222573	Transcript	.	.	ENSG00000105855	6163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.5)	.	deleterious(0.01)	.	ITB8_HUMAN	ITGB8	HGNC	B4DHD4_HUMAN	.	UPI000012DA14	SNV	ITGB8,missense_variant,p.Arg128Leu,ENST00000222573,;ITGB8,5_prime_UTR_variant,,ENST00000537992,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;ITGB8,non_coding_transcript_exon_variant,,ENST00000477859,;	1067	53	76	SUCCESS
HNRNPA2B1	3181	.	GRCh37	7	26236448	26236448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	76	0	ENST00000354667.4:c.490G>T	p.Asp164Tyr	p.D164Y	ENST00000354667	NM_031243.2	164	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS43557.1	490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCATGGT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000346694	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000354667	Transcript	.	.	ENSG00000122566	5033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	ROA2_HUMAN	HNRNPA2B1	HGNC	.	.	UPI000002F091	SNV	HNRNPA2B1,missense_variant,p.Asp164Tyr,ENST00000354667,;HNRNPA2B1,missense_variant,p.Asp152Tyr,ENST00000356674,;CBX3,upstream_gene_variant,,ENST00000456948,;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000337620,;CBX3,upstream_gene_variant,,ENST00000396386,;HNRNPA2B1,missense_variant,p.Asp164Tyr,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000495810,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;	659	76	71	SUCCESS
HIBADH	11112	.	GRCh37	7	27570940	27570940	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	110	0	ENST00000265395.2:c.723T>C	p.Ala241=	p.A241=	ENST00000265395	NM_152740.3	241	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS5414.1	723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTAGCCAG	NONE	.	.	hmmpanther:PTHR22981:SF51,hmmpanther:PTHR22981,TIGRFAM_domain:TIGR01692,Gene3D:1.10.1040.10,Pfam_domain:PF14833,PIRSF_domain:PIRSF000103,Superfamily_domains:SSF48179	.	.	ENSP00000265395	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000265395	Transcript	.	.	ENSG00000106049	4907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	3HIDH_HUMAN	HIBADH	HGNC	.	.	UPI000000160A	SNV	HIBADH,synonymous_variant,p.%3D,ENST00000265395,;HIBADH,synonymous_variant,p.%3D,ENST00000425715,;HIBADH,3_prime_UTR_variant,,ENST00000428288,;	930	110	123	SUCCESS
SDK1	221935	.	GRCh37	7	4056922	4056922	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768334258	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	27	131	0	ENST00000404826.2:c.2540C>G	p.Ala847Gly	p.A847G	ENST00000404826	NM_152744.3	847	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS34590.1	2540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGTACA	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	17/45	.	.	.	.	.	.	.	.	rs768334258	17/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0.01)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Ala847Gly,ENST00000404826,;SDK1,missense_variant,p.Ala847Gly,ENST00000389531,;	2679	131	159	SUCCESS
HIP1	3092	.	GRCh37	7	75183415	75183415	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782195793	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	39	0	ENST00000336926.6:c.2155G>T	p.Asp719Tyr	p.D719Y	ENST00000336926	NM_005338.6	719	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34669.1	2155	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCGGCAG	NONE	byFrequency	.	hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407	.	.	ENSP00000336747	.	21/31	.	.	.	.	.	.	.	.	rs782195793	21/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Asp719Tyr,ENST00000434438,;HIP1,missense_variant,p.Asp719Tyr,ENST00000336926,;HIP1,downstream_gene_variant,,ENST00000404944,;	2182	39	48	SUCCESS
PCLO	27445	.	GRCh37	7	82452001	82452001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	28	0	ENST00000333891.9:c.14601G>T	p.Met4867Ile	p.M4867I	ENST00000333891	NM_033026.5	4867	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS47630.1	14601	MUTECT|MUSE	.	ACCTGCATGTC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Met4867Ile,ENST00000333891,;PCLO,missense_variant,p.Met4867Ile,ENST00000423517,;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,upstream_gene_variant,,ENST00000432078,;	14939	28	37	SUCCESS
SEMA3D	223117	.	GRCh37	7	84636185	84636185	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	20	104	0	ENST00000284136.6:c.1841T>C	p.Ile614Thr	p.I614T	ENST00000284136	NM_152754.2	614	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS34676.1	1841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTATACAT	BUFFER|p.S617F|c.1850C>T|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS50835	.	.	ENSP00000284136	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.51)	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,missense_variant,p.Ile614Thr,ENST00000284136,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;	1885	104	101	SUCCESS
PDK4	5166	.	GRCh37	7	95217044	95217044	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs752699590	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	104	0	ENST00000005178.5:c.865A>T	p.Ile289Phe	p.I289F	ENST00000005178	NM_002612.3	289	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS5643.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAATGGTAA	NONE	.	.	Superfamily_domains:SSF55874,SMART_domains:SM00387,Pfam_domain:PF02518,Gene3D:3.30.565.10,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF17,PROSITE_profiles:PS50109	.	.	ENSP00000005178	.	8/11	.	.	.	.	.	.	.	.	rs752699590	8/11	PASS	ENST00000005178	Transcript	.	.	ENSG00000004799	8812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PDK4_HUMAN	PDK4	HGNC	B3KUX1_HUMAN,B3KU25_HUMAN,A4D1H4_HUMAN	.	UPI000000D984	SNV	PDK4,missense_variant,p.Ile289Phe,ENST00000005178,;PDK4,non_coding_transcript_exon_variant,,ENST00000473796,;PDK4,non_coding_transcript_exon_variant,,ENST00000498190,;PDK4,upstream_gene_variant,,ENST00000468445,;	1063	104	103	SUCCESS
RGS22	26166	.	GRCh37	8	101011556	101011556	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs371559852	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	26	102	0	ENST00000360863.6:c.2883G>C	p.Arg961Ser	p.R961S	ENST00000360863	NM_015668.3	961	agG/agC	0	A:0	.	.	.	.	G	R/S	protein_coding	YES	CCDS43758.1	2883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGCCTATT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	A:0.0001	ENSP00000354109	.	19/28	.	.	.	.	.	.	.	.	rs371559852	19/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0)	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,missense_variant,p.Arg780Ser,ENST00000523287,;RGS22,missense_variant,p.Arg949Ser,ENST00000523437,;RGS22,missense_variant,p.Arg961Ser,ENST00000360863,;RGS22,downstream_gene_variant,,ENST00000517828,;RGS22,downstream_gene_variant,,ENST00000519421,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;	3078	102	110	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110408332	110408332	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	63	0	ENST00000378402.5:c.888T>C	p.Asp296=	p.D296=	ENST00000378402	NM_177531.4	296	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS47911.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATCAGAC	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	11/78	.	.	.	.	.	.	.	.	.	11/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,synonymous_variant,p.%3D,ENST00000378402,;	992	63	85	SUCCESS
TRPS1	7227	.	GRCh37	8	116599386	116599386	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377704400	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	72	0	ENST00000220888.5:c.2503G>A	p.Ala835Thr	p.A835T	ENST00000220888		835	Gcc/Acc	0	T:0.0003	.	.	.	.	T	A/T	protein_coding	YES	CCDS6318.2	2542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCCTCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	T:0	ENSP00000379065	.	5/7	.	.	.	.	.	.	.	.	rs377704400	5/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.705)	.	tolerated_low_confidence(0.14)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Ala839Thr,ENST00000520276,;TRPS1,missense_variant,p.Ala835Thr,ENST00000220888,;TRPS1,missense_variant,p.Ala639Thr,ENST00000517323,;TRPS1,missense_variant,p.Ala589Thr,ENST00000519076,;TRPS1,missense_variant,p.Ala848Thr,ENST00000395715,;TRPS1,missense_variant,p.Ala835Thr,ENST00000519674,;	3120	72	84	SUCCESS
LRRC14	9684	.	GRCh37	8	145746557	145746557	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1457231623	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	57	0	ENST00000292524.1:c.1177G>A	p.Ala393Thr	p.A393T	ENST00000292524	NM_014665.3	393	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6432.1	1177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGCCAGT	NONE	.	.	hmmpanther:PTHR14224:SF9,hmmpanther:PTHR14224,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000292524	.	4/4	.	.	.	.	.	.	.	.	COSM1097296	4/4	PASS	ENST00000292524	Transcript	.	.	ENSG00000160959	20419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.26)	1	LRC14_HUMAN	LRRC14	HGNC	E9PRP5_HUMAN,E9PP40_HUMAN,E9PNL0_HUMAN	.	UPI000004EC76	SNV	LRRC14,missense_variant,p.Ala393Thr,ENST00000529022,;LRRC14,missense_variant,p.Ala393Thr,ENST00000292524,;LRRC14,downstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000524998,;C8orf82,downstream_gene_variant,,ENST00000524821,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC24,downstream_gene_variant,,ENST00000529415,;RECQL4,upstream_gene_variant,,ENST00000428558,;LRRC24,downstream_gene_variant,,ENST00000533758,;LRRC14,downstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000532237,;LRRC14,upstream_gene_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;RECQL4,upstream_gene_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000534538,;RECQL4,upstream_gene_variant,,ENST00000534270,;LRRC14,downstream_gene_variant,,ENST00000531310,;	1323	57	53	SUCCESS
GPR124	0	.	GRCh37	8	37688996	37688996	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372154008	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	77	0	ENST00000412232.2:c.988G>A	p.Val330Met	p.V330M	ENST00000412232	NM_032777.9	330	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS6097.2	988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCGTGTCC	NONE	byCluster	.	PROSITE_profiles:PS50227,PROSITE_profiles:PS50835,hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF111418	.	A:0.0001	ENSP00000406367	.	8/19	.	.	.	.	.	.	.	.	rs372154008	8/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	deleterious(0)	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,missense_variant,p.Val330Met,ENST00000412232,;GPR124,missense_variant,p.Val330Met,ENST00000315215,;GPR124,downstream_gene_variant,,ENST00000428068,;	1001	77	57	SUCCESS
SPIDR	23514	.	GRCh37	8	48508432	48508432	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	43	159	0	ENST00000297423.4:c.1157A>T	p.Glu386Val	p.E386V	ENST00000297423	NM_001080394.2	386	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS43737.1	1157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGAGAAAG	NONE	.	.	.	.	.	ENSP00000297423	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000297423	Transcript	.	.	ENSG00000164808	28971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	deleterious(0)	.	SPIDR_HUMAN	SPIDR	HGNC	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN	.	UPI0000253B92	SNV	SPIDR,missense_variant,p.Glu75Val,ENST00000524006,;SPIDR,missense_variant,p.Glu316Val,ENST00000541342,;SPIDR,missense_variant,p.Glu386Val,ENST00000297423,;SPIDR,missense_variant,p.Glu68Val,ENST00000519401,;SPIDR,missense_variant,p.Glu326Val,ENST00000518074,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000519661,;SPIDR,3_prime_UTR_variant,,ENST00000524033,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;RP11-697N18.2,upstream_gene_variant,,ENST00000517810,;	1541	159	178	SUCCESS
TOX	9760	.	GRCh37	8	59764302	59764302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	57	0	ENST00000361421.1:c.474G>T	p.Met158Ile	p.M158I	ENST00000361421	NM_014729.2	158	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34897.1	474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCATGGC	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155	.	.	ENSP00000354842	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000361421	Transcript	.	.	ENSG00000198846	18988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.28)	.	TOX_HUMAN	TOX	HGNC	B4DYA1_HUMAN	.	UPI0000070A73	SNV	TOX,missense_variant,p.Met158Ile,ENST00000361421,;	695	57	72	SUCCESS
PREX2	80243	.	GRCh37	8	69011946	69011946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	88	0	ENST00000288368.4:c.2583G>T	p.Glu861Asp	p.E861D	ENST00000288368	NM_024870.2	861	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6201.1	2583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGCATTT	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.47)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Glu861Asp,ENST00000288368,;RP11-403D15.2,upstream_gene_variant,,ENST00000526901,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	2860	88	108	SUCCESS
PMP2	5375	.	GRCh37	8	82356797	82356797	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	60	124	0	ENST00000256103.2:c.286C>A	p.Gln96Lys	p.Q96K	ENST00000256103	NM_002677.3	96	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS6229.1	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGCACTT	NONE	.	.	Superfamily_domains:SSF50814,Pfam_domain:PF00061,Gene3D:2.40.128.20,hmmpanther:PTHR11955:SF64,hmmpanther:PTHR11955	.	.	ENSP00000256103	.	3/4	.	.	.	.	.	.	.	.	COSM1101976	3/4	PASS	ENST00000256103	Transcript	.	.	ENSG00000147588	9117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	MYP2_HUMAN	PMP2	HGNC	.	.	UPI000013CEEB	SNV	PMP2,missense_variant,p.Ala38Glu,ENST00000519260,;PMP2,missense_variant,p.Gln96Lys,ENST00000256103,;RP11-157I4.4,intron_variant,,ENST00000524085,;	423	124	144	SUCCESS
IMPA1	3612	.	GRCh37	8	82572813	82572813	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	126	234	1	ENST00000256108.5:c.656G>A	p.Trp219Ter	p.W219*	ENST00000256108	NM_005536.3	219	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS47883.1	833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCCAGCAG	NONE	.	.	hmmpanther:PTHR20854:SF26,hmmpanther:PTHR20854,PROSITE_patterns:PS00630,Pfam_domain:PF00459,Gene3D:3.40.190.80,Superfamily_domains:SSF56655,Prints_domain:PR00377	.	.	ENSP00000408526	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000449740	Transcript	.	.	ENSG00000133731	6050	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMPA1_HUMAN	IMPA1	HGNC	E5RGY4_HUMAN,E5RG94_HUMAN	.	UPI000192950E	SNV	IMPA1,stop_gained,p.Trp244Ter,ENST00000523942,;IMPA1,stop_gained,p.Trp278Ter,ENST00000449740,;IMPA1,stop_gained,p.Trp219Ter,ENST00000256108,;IMPA1,missense_variant,p.Gly183Arg,ENST00000311489,;IMPA1,non_coding_transcript_exon_variant,,ENST00000523710,;IMPA1,3_prime_UTR_variant,,ENST00000518188,;	913	235	325	SUCCESS
RAD54B	25788	.	GRCh37	8	95384520	95384520	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1015013570	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	27	101	0	ENST00000336148.5:c.2611C>G	p.Leu871Val	p.L871V	ENST00000336148	NM_012415.3	871	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6262.1	2611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGCTGGG	NONE	.	.	.	.	.	ENSP00000336606	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000336148	Transcript	.	.	ENSG00000197275	17228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RA54B_HUMAN	RAD54B	HGNC	E5RHN9_HUMAN	.	UPI0000070088	SNV	RAD54B,missense_variant,p.Leu871Val,ENST00000336148,;RAD54B,non_coding_transcript_exon_variant,,ENST00000519348,;	2736	101	140	SUCCESS
ALDOB	229	.	GRCh37	9	104187850	104187850	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	83	0	ENST00000374855.4:c.684G>A	p.Leu228=	p.L228=	ENST00000374855	NM_000035.3	228	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6756.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGCAGGGT	NONE	.	.	Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,PROSITE_patterns:PS00158,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2	.	.	ENSP00000363988	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000374855	Transcript	.	.	ENSG00000136872	417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALDOB_HUMAN	ALDOB	HGNC	.	.	UPI000016A4A9	SNV	ALDOB,synonymous_variant,p.%3D,ENST00000374855,;ALDOB,non_coding_transcript_exon_variant,,ENST00000468981,;	809	83	65	SUCCESS
INPP5E	56623	.	GRCh37	9	139333590	139333590	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772508292	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	269	93	481	0	ENST00000371712.3:c.282G>T	p.Arg94Ser	p.R94S	ENST00000371712	NM_019892.4	94	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS7000.1	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACGCCTCCT	NONE	byFrequency	.	.	.	.	ENSP00000360777	.	1/10	.	.	.	.	.	.	.	.	rs772508292	1/10	PASS	ENST00000371712	Transcript	.	.	ENSG00000148384	21474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.743)	.	deleterious(0)	.	INP5E_HUMAN	INPP5E	HGNC	Q2YD81_HUMAN	.	UPI000014053C	SNV	INPP5E,missense_variant,p.Arg94Ser,ENST00000371712,;SEC16A,downstream_gene_variant,,ENST00000290037,;SEC16A,downstream_gene_variant,,ENST00000313050,;SEC16A,downstream_gene_variant,,ENST00000313084,;SEC16A,downstream_gene_variant,,ENST00000453963,;SEC16A,downstream_gene_variant,,ENST00000277537,;SEC16A,downstream_gene_variant,,ENST00000431893,;SEC16A,downstream_gene_variant,,ENST00000371706,;SEC16A,downstream_gene_variant,,ENST00000467838,;	685	481	363	SUCCESS
C9orf131	138724	.	GRCh37	9	35044802	35044802	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	59	0	ENST00000312292.5:c.2176C>T	p.Leu726=	p.L726=	ENST00000312292	NM_203299.2	726	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6572.2	2176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCTACAC	NONE	.	.	hmmpanther:PTHR21777	.	.	ENSP00000308279	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312292	Transcript	.	.	ENSG00000174038	31418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI131_HUMAN	C9orf131	HGNC	.	.	UPI00001605AC	SNV	C9orf131,synonymous_variant,p.%3D,ENST00000421362,;C9orf131,synonymous_variant,p.%3D,ENST00000312292,;C9orf131,synonymous_variant,p.%3D,ENST00000354479,;C9orf131,downstream_gene_variant,,ENST00000378745,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000534880,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	2223	59	62	SUCCESS
KIAA2026	158358	.	GRCh37	9	5922618	5922618	+	synonymous_variant	Silent	SNP	T	T	C	rs780506945	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	96	0	ENST00000399933.3:c.3378A>G	p.Pro1126=	p.P1126=	ENST00000399933	NM_001017969.2	1126	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	.	3378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGTGGTGG	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	rs780506945	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,synonymous_variant,p.%3D,ENST00000381461,;KIAA2026,synonymous_variant,p.%3D,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	3378	97	82	SUCCESS
KANK1	23189	.	GRCh37	9	711564	711564	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780034608	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	62	0	ENST00000382297.2:c.798G>T	p.Gln266His	p.Q266H	ENST00000382297	NM_001256877.1	266	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS34976.1	798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGATGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	7/16	.	.	.	.	.	.	.	.	rs780034608	7/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Gln108His,ENST00000382293,;KANK1,missense_variant,p.Gln266His,ENST00000382303,;KANK1,missense_variant,p.Gln266His,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	1450	62	67	SUCCESS
KANK1	23189	.	GRCh37	9	713298	713298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	107	0	ENST00000382297.2:c.2532C>A	p.Asn844Lys	p.N844K	ENST00000382297	NM_001256877.1	844	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS34976.1	2532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAACTACAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious(0.01)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Asn686Lys,ENST00000382293,;KANK1,missense_variant,p.Asn844Lys,ENST00000382303,;KANK1,missense_variant,p.Asn844Lys,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	3184	107	104	SUCCESS
FRMD3	257019	.	GRCh37	9	85882158	85882158	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	36	0	ENST00000304195.3:c.1196-18727A>T		p.*399*	ENST00000304195	NM_001244960.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43840.1	.	MUTECT|MUSE	.	CTGAATGAATC	NONE	.	.	.	.	.	ENSP00000303508	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304195	Transcript	.	.	ENSG00000172159	24125	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRMD3_HUMAN	FRMD3	HGNC	.	.	UPI000066DA57	SNV	FRMD3,5_prime_UTR_variant,,ENST00000328788,;FRMD3,intron_variant,,ENST00000304195,;FRMD3,intron_variant,,ENST00000376434,;FRMD3,intron_variant,,ENST00000376438,;FRMD3,intron_variant,,ENST00000465485,;	.	36	39	SUCCESS
NUTM2G	441457	.	GRCh37	9	99694422	99694422	+	synonymous_variant	Silent	SNP	G	G	A	rs755759002	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	15	236	0	ENST00000372322.3:c.435G>A	p.Gln145=	p.Q145=	ENST00000372322	NM_001170741.1	145	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS55329.1	435	RADIA|MUTECT|VARSCANS	.	ACCCAGGCCTG	NONE	.	.	hmmpanther:PTHR22879:SF12,hmmpanther:PTHR22879,Pfam_domain:PF12881	.	.	ENSP00000361397	.	2/7	.	.	.	.	.	.	.	.	rs755759002	2/7	PASS	ENST00000372322	Transcript	.	.	ENSG00000188152	23449	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NTM2G_HUMAN	NUTM2G	HGNC	.	.	UPI000175026B	SNV	NUTM2G,synonymous_variant,p.%3D,ENST00000372322,;NUTM2G,synonymous_variant,p.%3D,ENST00000354649,;HIATL2,intron_variant,,ENST00000506067,;	456	236	148	SUCCESS
COL4A6	1288	.	GRCh37	X	107464563	107464563	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	44	93	0	ENST00000372216.4:c.189T>C	p.Pro63=	p.P63=	ENST00000372216	NM_001847.2	63	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS14541.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGAGGACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164,Pfam_domain:PF01391	.	.	ENSP00000361290	.	4/45	.	.	.	.	.	.	.	.	.	4/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,synonymous_variant,p.%3D,ENST00000394872,;COL4A6,synonymous_variant,p.%3D,ENST00000372216,;COL4A6,synonymous_variant,p.%3D,ENST00000334504,;COL4A6,synonymous_variant,p.%3D,ENST00000545689,;COL4A6,synonymous_variant,p.%3D,ENST00000538570,;COL4A6,non_coding_transcript_exon_variant,,ENST00000468338,;	290	93	77	SUCCESS
ZRSR2	8233	.	GRCh37	X	15809111	15809111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	95	210	0	ENST00000307771.7:c.96G>T	p.Gln32His	p.Q32H	ENST00000307771	NM_005089.3	32	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS14172.1	96	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAGGAACT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12620:SF6,hmmpanther:PTHR12620	.	.	ENSP00000303015	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000307771	Transcript	.	.	ENSG00000169249	23019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	U2AFM_HUMAN	ZRSR2	HGNC	.	.	UPI0000137929	SNV	ZRSR2,missense_variant,p.Gln32His,ENST00000380308,;ZRSR2,missense_variant,p.Gln32His,ENST00000307771,;CA5B,downstream_gene_variant,,ENST00000318636,;ZRSR2,non_coding_transcript_exon_variant,,ENST00000468028,;	120	210	196	SUCCESS
CTPS2	56474	.	GRCh37	X	16707658	16707658	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	115	264	0	ENST00000359276.4:c.787G>T	p.Val263Leu	p.V263L	ENST00000359276	NM_175859.1	263	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS14175.1	787	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCACAATGC	NONE	.	.	hmmpanther:PTHR11550:SF2,hmmpanther:PTHR11550,Pfam_domain:PF06418,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00337,Superfamily_domains:SSF52540	.	.	ENSP00000401264	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000443824	Transcript	.	.	ENSG00000047230	2520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.52)	.	PYRG2_HUMAN	CTPS2	HGNC	.	.	UPI0000073CBD	SNV	CTPS2,missense_variant,p.Val263Leu,ENST00000359276,;CTPS2,missense_variant,p.Val263Leu,ENST00000443824,;CTPS2,missense_variant,p.Val263Leu,ENST00000380241,;	1531	264	232	SUCCESS
ZNF41	7592	.	GRCh37	X	47308079	47308079	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	46	0	ENST00000377065.4:c.1090T>C	p.Phe364Leu	p.F364L	ENST00000377065	NM_153380.2	364	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS14279.1	1090	MUTECT|MUSE	.	GAAAAAGGCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF82,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000366265	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377065	Transcript	.	.	ENSG00000147124	13107	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ZNF41_HUMAN	ZNF41	HGNC	.	.	UPI0000001C0E	SNV	ZNF41,missense_variant,p.Phe364Leu,ENST00000313116,;ZNF41,missense_variant,p.Phe374Leu,ENST00000397050,;ZNF41,missense_variant,p.Phe364Leu,ENST00000377065,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;	1730	46	47	SUCCESS
TRO	7216	.	GRCh37	X	54949458	54949458	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	54	133	0	ENST00000173898.7:c.493C>T	p.Gln165Ter	p.Q165*	ENST00000173898	NM_001039705.2	165	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS43959.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATACAGCTG	NONE	.	.	hmmpanther:PTHR11736:SF57,hmmpanther:PTHR11736	.	.	ENSP00000173898	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,stop_gained,p.Gln165Ter,ENST00000375022,;TRO,stop_gained,p.Gln121Ter,ENST00000411534,;TRO,stop_gained,p.Gln121Ter,ENST00000449980,;TRO,stop_gained,p.Gln121Ter,ENST00000430420,;TRO,stop_gained,p.Gln165Ter,ENST00000440759,;TRO,stop_gained,p.Gln165Ter,ENST00000319167,;TRO,stop_gained,p.Gln121Ter,ENST00000427099,;TRO,stop_gained,p.Gln165Ter,ENST00000442098,;TRO,stop_gained,p.Gln165Ter,ENST00000416704,;TRO,stop_gained,p.Gln165Ter,ENST00000173898,;TRO,intron_variant,,ENST00000431115,;TRO,intron_variant,,ENST00000399736,;TRO,intron_variant,,ENST00000375041,;TRO,intron_variant,,ENST00000420798,;TRO,downstream_gene_variant,,ENST00000440072,;TRO,downstream_gene_variant,,ENST00000453081,;TRO,downstream_gene_variant,,ENST00000452830,;SNORA11,upstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000484031,;TRO,upstream_gene_variant,,ENST00000492142,;TRO,downstream_gene_variant,,ENST00000474933,;TRO,upstream_gene_variant,,ENST00000475183,;TRO,stop_gained,p.Gln165Ter,ENST00000445561,;TRO,upstream_gene_variant,,ENST00000492706,;TRO,upstream_gene_variant,,ENST00000469211,;	605	133	100	SUCCESS
PFKFB1	5207	.	GRCh37	X	54975557	54975557	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	65	111	0	ENST00000375006.3:c.944C>A	p.Ala315Asp	p.A315D	ENST00000375006	NM_001271804.1	315	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS14364.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCCTCA	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF53254	.	.	ENSP00000364145	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Ala250Asp,ENST00000545676,;PFKFB1,missense_variant,p.Ala315Asp,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	1015	111	107	SUCCESS
PFKFB1	5207	.	GRCh37	X	54975558	54975558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	65	112	0	ENST00000375006.3:c.943G>T	p.Ala315Ser	p.A315S	ENST00000375006	NM_001271804.1	315	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14364.1	943	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCTCAG	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF53254	.	.	ENSP00000364145	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Ala250Ser,ENST00000545676,;PFKFB1,missense_variant,p.Ala315Ser,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	1014	112	106	SUCCESS
NLGN3	54413	.	GRCh37	X	70375180	70375180	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201424510	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	66	0	ENST00000358741.3:c.694G>C	p.Val232Leu	p.V232L	ENST00000358741	NM_181303.1	232	Gtc/Ctc	0	.	A:0	.	A:0.0014	.	C	V/L	protein_coding	YES	CCDS55441.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGTCATC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF145,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	A:0	.	ENSP00000351591	A:0	5/8	.	.	.	.	.	.	.	.	rs201424510	5/8	PASS	ENST00000358741	Transcript	.	A:0.0003	ENSG00000196338	14289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.531)	A:0	deleterious(0)	.	NLGN3_HUMAN	NLGN3	HGNC	.	.	UPI000006FCBB	SNV	NLGN3,missense_variant,p.Val232Leu,ENST00000358741,;NLGN3,missense_variant,p.Val212Leu,ENST00000374051,;NLGN3,missense_variant,p.Val192Leu,ENST00000395855,;NLGN3,missense_variant,p.Val192Leu,ENST00000536169,;NLGN3,non_coding_transcript_exon_variant,,ENST00000476589,;	997	66	67	SUCCESS
PTPLA	0	.	GRCh37	10	17636234	17636234	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	313	151	339	0	ENST00000361271.3:c.754C>A	p.Leu252Ile	p.L252I	ENST00000361271	NM_014241.3	252	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS7121.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGAAAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11035:SF22,hmmpanther:PTHR11035,Pfam_domain:PF04387	.	.	ENSP00000355308	.	6/7	.	.	.	.	.	.	.	.	COSM916848	6/7	PASS	ENST00000361271	Transcript	1	.	ENSG00000165996	9639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	HACD1_HUMAN	PTPLA	HGNC	J3KT94_HUMAN	.	UPI000036666A	SNV	PTPLA,missense_variant,p.Leu252Ile,ENST00000361271,;PTPLA,downstream_gene_variant,,ENST00000466335,;PTPLA,3_prime_UTR_variant,,ENST00000498812,;PTPLA,non_coding_transcript_exon_variant,,ENST00000471481,;	792	339	464	SUCCESS
LRRC37A6P	387646	.	GRCh37	10	27536931	27536931	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	17	0	ENST00000284414.4:n.2561T>C		p.*854*	ENST00000284414				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|MUSE	.	AAAATACCCAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000574842	Transcript	.	.	ENSG00000262412	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-85G18.6	Clone_based_vega_gene	.	.	.	SNV	RP11-85G18.6,intron_variant,,ENST00000574842,;LRRC37A6P,non_coding_transcript_exon_variant,,ENST00000284414,;LRRC37A6P,downstream_gene_variant,,ENST00000575554,;LRRC37A6P,downstream_gene_variant,,ENST00000574795,;LRRC37A6P,non_coding_transcript_exon_variant,,ENST00000448648,;	.	17	22	SUCCESS
RBM17	84991	.	GRCh37	10	6154319	6154319	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	69	102	0	ENST00000379888.4:c.851A>G	p.Glu284Gly	p.E284G	ENST00000379888	NM_032905.4	284	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS7077.1	851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAGAAAG	NONE	.	.	PIRSF_domain:PIRSF031066,hmmpanther:PTHR13288,hmmpanther:PTHR13288:SF8	.	.	ENSP00000388638	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000446108	Transcript	.	.	ENSG00000134453	16944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.2)	.	SPF45_HUMAN	RBM17	HGNC	Q5W011_HUMAN,Q5W009_HUMAN	.	UPI000000D96A	SNV	RBM17,missense_variant,p.Glu191Gly,ENST00000447032,;RBM17,missense_variant,p.Glu284Gly,ENST00000379888,;RBM17,missense_variant,p.Glu284Gly,ENST00000446108,;RBM17,downstream_gene_variant,,ENST00000418631,;RBM17,downstream_gene_variant,,ENST00000432931,;RBM17,downstream_gene_variant,,ENST00000437845,;RBM17,non_coding_transcript_exon_variant,,ENST00000481147,;RBM17,upstream_gene_variant,,ENST00000476706,;RBM17,upstream_gene_variant,,ENST00000496762,;RBM17,upstream_gene_variant,,ENST00000467080,;RBM17,upstream_gene_variant,,ENST00000465906,;	1495	102	179	SUCCESS
RHOBTB1	9886	.	GRCh37	10	62648855	62648855	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	92	0	ENST00000337910.5:c.571T>C	p.Phe191Leu	p.F191L	ENST00000337910	NM_001242359.1	191	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7261.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAACACGC	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF120,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000338671	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000337910	Transcript	.	.	ENSG00000072422	18738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.654)	.	tolerated(0.58)	.	RHBT1_HUMAN	RHOBTB1	HGNC	Q567T3_HUMAN	.	UPI000000D9B7	SNV	RHOBTB1,missense_variant,p.Phe191Leu,ENST00000337910,;RHOBTB1,missense_variant,p.Phe191Leu,ENST00000357917,;RHOBTB1,upstream_gene_variant,,ENST00000483488,;	909	92	59	SUCCESS
FFAR4	338557	.	GRCh37	10	95326438	95326438	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	39	0	ENST00000371483.4:c.-40A>T		p.*14*	ENST00000371483	NM_181745.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31248.1	.	MUTECT|MUSE	.	AGATGAGCACT	NONE	.	.	.	.	.	ENSP00000360538	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000371483	Transcript	1	.	ENSG00000186188	19061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FFAR4_HUMAN	FFAR4	HGNC	.	.	UPI00001C1EE5	SNV	FFAR4,5_prime_UTR_variant,,ENST00000371481,;FFAR4,5_prime_UTR_variant,,ENST00000371483,;FFAR4,upstream_gene_variant,,ENST00000604414,;	17	39	25	SUCCESS
PLCE1	51196	.	GRCh37	10	96066392	96066392	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1344794553	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	109	0	ENST00000260766.3:c.5831A>G	p.Asn1944Ser	p.N1944S	ENST00000260766	NM_016341.3	1944	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS41552.1	5831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAATAGTT	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6,PROSITE_profiles:PS50004	.	.	ENSP00000360431	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.27)	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,missense_variant,p.Asn1944Ser,ENST00000371380,;PLCE1,missense_variant,p.Asn1944Ser,ENST00000260766,;PLCE1,missense_variant,p.Asn1636Ser,ENST00000371375,;PLCE1,missense_variant,p.Asn1636Ser,ENST00000371385,;	6066	109	73	SUCCESS
GUCY1A2	2977	.	GRCh37	11	106810453	106810453	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	46	125	0	ENST00000526355.2:c.939T>A	p.Pro313=	p.P313=	ENST00000526355	NM_000855.2	313	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS58170.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCAGGAAC	NONE	.	.	hmmpanther:PTHR11920:SF276,hmmpanther:PTHR11920	.	.	ENSP00000282249	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000282249	Transcript	.	.	ENSG00000152402	4684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCYA2_HUMAN	GUCY1A2	HGNC	.	.	UPI000002A79C	SNV	GUCY1A2,synonymous_variant,p.%3D,ENST00000282249,;GUCY1A2,synonymous_variant,p.%3D,ENST00000526355,;GUCY1A2,synonymous_variant,p.%3D,ENST00000347596,;	1329	125	56	SUCCESS
ELMOD1	55531	.	GRCh37	11	107526740	107526740	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs190625125	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	21	77	0	ENST00000265840.7:c.780C>G	p.Phe260Leu	p.F260L	ENST00000265840	NM_018712.3	260	ttC/ttG	0	.	T:0	.	T:0	.	G	F/L	protein_coding	YES	CCDS44723.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCTACAA	NONE	by1000G	.	Pfam_domain:PF04727,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF18,PROSITE_profiles:PS51335	T:0	.	ENSP00000265840	T:0.001	11/12	.	.	.	.	.	.	.	.	rs190625125,COSM922615	11/12	PASS	ENST00000265840	Transcript	.	T:0.0002	ENSG00000110675	25334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	T:0	tolerated(0.84)	0,1	ELMD1_HUMAN	ELMOD1	HGNC	E9PLM8_HUMAN	.	UPI000006DF30	SNV	ELMOD1,missense_variant,p.Phe252Leu,ENST00000443271,;ELMOD1,missense_variant,p.Phe254Leu,ENST00000531234,;ELMOD1,missense_variant,p.Phe260Leu,ENST00000265840,;ELMOD1,downstream_gene_variant,,ENST00000534236,;	1045	77	24	SUCCESS
RBM7	10179	.	GRCh37	11	114271206	114271206	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	52	0	ENST00000540163.1:c.-188C>T		p.*63*	ENST00000540163	NM_001286048.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8370.1	.	MUTECT|MUSE	.	CTTGCCTTTAA	NONE	.	.	.	.	.	ENSP00000439918	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000540163	Transcript	.	.	ENSG00000076053	9904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBM7_HUMAN	RBM7	HGNC	G3V1T9_HUMAN	.	UPI000013337E	SNV	RBM7,5_prime_UTR_variant,,ENST00000540163,;RBM7,upstream_gene_variant,,ENST00000544582,;RBM7,upstream_gene_variant,,ENST00000375490,;RBM7,upstream_gene_variant,,ENST00000545678,;RBM7,upstream_gene_variant,,ENST00000541475,;C11orf71,upstream_gene_variant,,ENST00000325636,;RBM7,upstream_gene_variant,,ENST00000542140,;RP11-212D19.4,upstream_gene_variant,,ENST00000544347,;RBM7,upstream_gene_variant,,ENST00000538134,;RBM7,upstream_gene_variant,,ENST00000544313,;	455	52	9	SUCCESS
MUC5AC	4586	.	GRCh37	11	1156265	1156265	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	43	158	1	ENST00000534821.1:c.588+2T>G		p.X196_splice	ENST00000534821		196		0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTGAGGC	NONE	.	.	.	.	.	ENSP00000435591	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000534821	Transcript	.	.	ENSG00000215182	7515	.	.	HIGH	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC5AC	HGNC	Q7LDT3_HUMAN,E9PJ98_HUMAN	.	UPI0000456454	SNV	MUC5AC,splice_donor_variant,,ENST00000356191,;MUC5AC,splice_donor_variant,,ENST00000534821,;	.	159	109	SUCCESS
ABCG4	64137	.	GRCh37	11	119025505	119025505	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	28	80	0	ENST00000307417.3:c.566G>T	p.Gly189Val	p.G189V	ENST00000307417	NM_022169.4	189	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS8415.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGCCTGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211,PROSITE_profiles:PS50893	.	.	ENSP00000304111	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000307417	Transcript	.	.	ENSG00000172350	13884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ABCG4_HUMAN	ABCG4	HGNC	Q9NT30_HUMAN,E9PJ00_HUMAN	.	UPI000000D999	SNV	ABCG4,missense_variant,p.Gly189Val,ENST00000307417,;ABCG4,missense_variant,p.Gly189Val,ENST00000449422,;ABCG4,missense_variant,p.Gly189Val,ENST00000531739,;AP002956.1,downstream_gene_variant,,ENST00000599663,;ABCG4,downstream_gene_variant,,ENST00000524604,;ABCG4,upstream_gene_variant,,ENST00000534402,;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;	930	80	32	SUCCESS
IGSF9B	22997	.	GRCh37	11	133794761	133794761	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	12	44	0	ENST00000321016.8:c.2073G>A	p.Gln691=	p.Q691=	ENST00000321016		691	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS61010.1	2073	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AGATCCTGCAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000436552	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,synonymous_variant,p.%3D,ENST00000533871,;IGSF9B,synonymous_variant,p.%3D,ENST00000321016,;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,;	2304	44	14	SUCCESS
SLC5A12	159963	.	GRCh37	11	26734192	26734192	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	107	0	ENST00000396005.3:c.401A>G	p.Gln134Arg	p.Q134R	ENST00000396005	NM_178498.3	134	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7860.2	401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCTGTACA	NONE	.	.	hmmpanther:PTHR11819,Pfam_domain:PF00474,hmmpanther:PTHR11819:SF113,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,TIGRFAM_domain:TIGR00813	.	.	ENSP00000379326	.	2/15	.	.	.	.	.	.	.	.	COSM1507685,COSM1507686	2/15	PASS	ENST00000396005	Transcript	.	.	ENSG00000148942	28750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	tolerated(0.06)	1,1	SC5AC_HUMAN	SLC5A12	HGNC	E9PLZ7_HUMAN	.	UPI000003ED2C	SNV	SLC5A12,missense_variant,p.Gln134Arg,ENST00000280467,;SLC5A12,missense_variant,p.Gln134Arg,ENST00000396005,;SLC5A12,5_prime_UTR_variant,,ENST00000533617,;SLC5A12,5_prime_UTR_variant,,ENST00000527405,;SLC5A12,non_coding_transcript_exon_variant,,ENST00000528822,;	711	107	72	SUCCESS
GYLTL1B	0	.	GRCh37	11	45949843	45949843	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs745786336	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	44	107	0	ENST00000325468.5:c.1870C>T	p.Arg624Ter	p.R624*	ENST00000325468		624	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS31473.1	1870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACGAGAC	NONE	byFrequency	.	hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270,Pfam_domain:PF13896	.	.	ENSP00000432869	.	13/14	.	.	.	.	.	.	.	.	rs745786336	13/14	PASS	ENST00000531526	Transcript	.	.	ENSG00000165905	16522	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LARG2_HUMAN	GYLTL1B	HGNC	.	.	UPI000004B639	SNV	GYLTL1B,stop_gained,p.Arg624Ter,ENST00000325468,;GYLTL1B,stop_gained,p.Arg624Ter,ENST00000531526,;GYLTL1B,stop_gained,p.Arg593Ter,ENST00000536139,;GYLTL1B,stop_gained,p.Arg593Ter,ENST00000529052,;GYLTL1B,stop_gained,p.Arg624Ter,ENST00000401752,;GYLTL1B,intron_variant,,ENST00000531847,;GYLTL1B,downstream_gene_variant,,ENST00000534410,;PHF21A,downstream_gene_variant,,ENST00000257821,;PHF21A,downstream_gene_variant,,ENST00000323180,;GYLTL1B,downstream_gene_variant,,ENST00000389968,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000528236,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000530437,;GYLTL1B,downstream_gene_variant,,ENST00000414027,;GYLTL1B,downstream_gene_variant,,ENST00000525609,;PHF21A,downstream_gene_variant,,ENST00000527401,;	1981	107	76	SUCCESS
PCNXL3	0	.	GRCh37	11	65403015	65403015	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	25	61	1	ENST00000355703.3:c.5200G>T	p.Val1734Leu	p.V1734L	ENST00000355703	NM_032223.2	1734	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS44650.1	5200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGTGCGC	NONE	.	.	Pfam_domain:PF05041,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	.	.	ENSP00000347931	.	32/35	.	.	.	.	.	.	.	.	.	32/35	PASS	ENST00000355703	Transcript	.	.	ENSG00000197136	18760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.04)	.	PCX3_HUMAN	PCNXL3	HGNC	.	.	UPI0000405B22	SNV	PCNXL3,missense_variant,p.Val1734Leu,ENST00000355703,;SIPA1,upstream_gene_variant,,ENST00000533361,;SIPA1,upstream_gene_variant,,ENST00000527525,;SIPA1,upstream_gene_variant,,ENST00000394224,;SIPA1,upstream_gene_variant,,ENST00000526137,;SIPA1,upstream_gene_variant,,ENST00000534313,;MIR4690,upstream_gene_variant,,ENST00000578459,;PCNXL3,downstream_gene_variant,,ENST00000531280,;PCNXL3,non_coding_transcript_exon_variant,,ENST00000439247,;	5739	62	28	SUCCESS
KRTAP5-10	387273	.	GRCh37	11	71277043	71277043	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	36	172	0	ENST00000398531.1:c.410G>T	p.Cys137Phe	p.C137F	ENST00000398531	NM_001012710.1	137	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS41684.1	410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGTGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF47	.	.	ENSP00000381542	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000398531	Transcript	.	.	ENSG00000204572	23605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KR510_HUMAN	KRTAP5-10	HGNC	.	.	UPI0000376062	SNV	KRTAP5-10,missense_variant,p.Cys89Phe,ENST00000376536,;KRTAP5-10,missense_variant,p.Cys137Phe,ENST00000398531,;AP000867.14,upstream_gene_variant,,ENST00000511464,;	435	172	64	SUCCESS
KLHL35	283212	.	GRCh37	11	75139638	75139638	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	15	45	0	ENST00000539798.1:c.915C>A	p.Ile305=	p.I305=	ENST00000539798	NM_001039548.2	305	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS44685.2	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGATGAC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000438526	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000539798	Transcript	.	.	ENSG00000149243	26597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KLHL35	HGNC	F5H412_HUMAN	.	UPI0001B723C7	SNV	KLHL35,synonymous_variant,p.%3D,ENST00000376292,;KLHL35,synonymous_variant,p.%3D,ENST00000539798,;KLHL35,non_coding_transcript_exon_variant,,ENST00000460787,;KLHL35,upstream_gene_variant,,ENST00000527491,;	915	45	17	SUCCESS
FAT3	120114	.	GRCh37	11	92532846	92532846	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs763441667	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	24	60	0	ENST00000298047.6:c.6667A>T	p.Ile2223Phe	p.I2223F	ENST00000298047		2223	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	.	6667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTATCGAT	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268,Low_complexity_(Seg):seg	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	rs763441667	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.555)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ile2223Phe,ENST00000298047,;FAT3,missense_variant,p.Ile2223Phe,ENST00000409404,;FAT3,missense_variant,p.Ile2073Phe,ENST00000525166,;	6684	60	32	SUCCESS
PLXNC1	10154	.	GRCh37	12	94692459	94692459	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	29	146	0	ENST00000258526.4:c.4126C>T	p.Pro1376Ser	p.P1376S	ENST00000258526	NM_005761.2	1376	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9049.1	4126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTACCCAAC	NONE	.	.	hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000258526	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000258526	Transcript	.	.	ENSG00000136040	9106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	PLXC1_HUMAN	PLXNC1	HGNC	F8VUW4_HUMAN,F5H3A2_HUMAN	.	UPI0000038AF4	SNV	PLXNC1,missense_variant,p.Pro115Ser,ENST00000545312,;PLXNC1,missense_variant,p.Pro423Ser,ENST00000547057,;PLXNC1,missense_variant,p.Pro1376Ser,ENST00000258526,;PLXNC1,intron_variant,,ENST00000549217,;	4375	146	155	SUCCESS
METTL21C	196541	.	GRCh37	13	103338746	103338746	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	31	77	0	ENST00000267273.6:c.430G>A	p.Asp144Asn	p.D144N	ENST00000267273	NM_001010977.2	144	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32003.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCAGGCA	NONE	.	.	hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614,Gene3D:3.40.50.150,Pfam_domain:PF10294,Superfamily_domains:SSF53335	.	.	ENSP00000267273	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000267273	Transcript	.	.	ENSG00000139780	33717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0.05)	.	MT21C_HUMAN	METTL21C	HGNC	.	.	UPI000016196F	SNV	METTL21C,missense_variant,p.Asp144Asn,ENST00000267273,;	436	77	180	SUCCESS
N6AMT2	0	.	GRCh37	13	21306081	21306081	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs776773528	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	954	41	103	0	ENST00000382754.4:c.407A>T	p.Asp136Val	p.D136V	ENST00000382754	NM_174928.1	136	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9293.1	407	MUTECT|MUSE	.	CGATGTCAAAA	NONE	.	.	hmmpanther:PTHR13200,hmmpanther:PTHR13200:SF0,Pfam_domain:PF10237,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000372206	.	4/5	.	.	.	.	.	.	.	.	rs776773528	4/5	PASS	ENST00000382758	Transcript	.	.	ENSG00000150456	27351	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	N6MT2_HUMAN	N6AMT2	HGNC	B3KP02_HUMAN	.	UPI0000039E71	SNV	N6AMT2,missense_variant,p.Asp136Val,ENST00000382754,;N6AMT2,missense_variant,p.Asp136Val,ENST00000382758,;	455	103	995	SUCCESS
LATS2	26524	.	GRCh37	13	21563118	21563118	+	synonymous_variant	Silent	SNP	G	G	A	rs1290571408	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1232	27	53	0	ENST00000382592.4:c.801C>T	p.Tyr267=	p.Y267=	ENST00000382592	NM_014572.2	267	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS9294.1	801	MUTECT|MUSE	.	ACTCCGTAGCC	NONE	.	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149	.	.	ENSP00000372035	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000382592	Transcript	.	.	ENSG00000150457	6515	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LATS2_HUMAN	LATS2	HGNC	.	.	UPI000013DBF5	SNV	LATS2,synonymous_variant,p.%3D,ENST00000542899,;LATS2,synonymous_variant,p.%3D,ENST00000382592,;LATS2,downstream_gene_variant,,ENST00000472754,;	1207	53	1260	SUCCESS
RB1	5925	.	GRCh37	13	48881475	48881475	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs761011109	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	38	181	0	ENST00000267163.4:c.197T>A	p.Ile66Lys	p.I66K	ENST00000267163	NM_000321.2	66	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS31973.1	197	RADIA|MUTECT|MUSE	.	AAAGATACCAG	NONE	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	2/27	.	.	.	.	.	.	.	.	rs761011109	2/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.109)	.	deleterious(0)	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,missense_variant,p.Ile66Lys,ENST00000267163,;LINC00441,upstream_gene_variant,,ENST00000436963,;LINC00441,upstream_gene_variant,,ENST00000433480,;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	335	181	50	SUCCESS
RB1	5925	.	GRCh37	13	48881477	48881477	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	39	182	0	ENST00000267163.4:c.199C>G	p.Pro67Ala	p.P67A	ENST00000267163	NM_000321.2	67	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS31973.1	199	RADIA|MUTECT|MUSE	.	AGATACCAGAT	NONE	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.084)	.	tolerated(0.18)	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,missense_variant,p.Pro67Ala,ENST00000267163,;LINC00441,upstream_gene_variant,,ENST00000436963,;LINC00441,upstream_gene_variant,,ENST00000433480,;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	337	182	50	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102467511	102467511	+	synonymous_variant	Silent	SNP	C	C	T	rs748713162	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	42	185	0	ENST00000360184.4:c.4215C>T	p.Ser1405=	p.S1405=	ENST00000360184	NM_001376.4	1405	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9966.1	4215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCGAAGC	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000348965	.	20/78	.	.	.	.	.	.	.	.	rs748713162	20/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;	4379	185	76	SUCCESS
TINF2	26277	.	GRCh37	14	24711153	24711153	+	synonymous_variant	Silent	SNP	C	C	T	rs145115622	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	119	0	ENST00000267415.7:c.240G>A	p.Leu80=	p.L80=	ENST00000267415	NM_001099274.1	80	ctG/ctA	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS41936.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCAGGAC	NONE	by1000G	.	hmmpanther:PTHR15512:SF0,hmmpanther:PTHR15512,Pfam_domain:PF14973	T:0	.	ENSP00000267415	T:0.001	2/9	.	.	.	.	.	.	.	.	rs145115622	2/9	PASS	ENST00000267415	Transcript	.	T:0.0002	ENSG00000092330	11824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TINF2_HUMAN	TINF2	HGNC	Q86TZ8_HUMAN,H0YKA6_HUMAN,B3W5Q7_HUMAN	.	UPI0000136FAB	SNV	TINF2,synonymous_variant,p.%3D,ENST00000267415,;TINF2,synonymous_variant,p.%3D,ENST00000399423,;TINF2,synonymous_variant,p.%3D,ENST00000558566,;TINF2,synonymous_variant,p.%3D,ENST00000559969,;TINF2,5_prime_UTR_variant,,ENST00000538777,;TINF2,5_prime_UTR_variant,,ENST00000558476,;TINF2,intron_variant,,ENST00000557921,;TINF2,intron_variant,,ENST00000540705,;TINF2,intron_variant,,ENST00000559019,;GMPR2,downstream_gene_variant,,ENST00000560139,;GMPR2,downstream_gene_variant,,ENST00000559479,;GMPR2,downstream_gene_variant,,ENST00000559943,;GMPR2,downstream_gene_variant,,ENST00000399440,;GMPR2,downstream_gene_variant,,ENST00000559836,;GMPR2,downstream_gene_variant,,ENST00000558788,;GMPR2,downstream_gene_variant,,ENST00000559910,;GMPR2,downstream_gene_variant,,ENST00000558748,;GMPR2,downstream_gene_variant,,ENST00000558483,;GMPR2,downstream_gene_variant,,ENST00000355299,;TINF2,upstream_gene_variant,,ENST00000560019,;GMPR2,downstream_gene_variant,,ENST00000561035,;GMPR2,downstream_gene_variant,,ENST00000420554,;GMPR2,downstream_gene_variant,,ENST00000558932,;GMPR2,downstream_gene_variant,,ENST00000559104,;GMPR2,downstream_gene_variant,,ENST00000456667,;GMPR2,downstream_gene_variant,,ENST00000558865,;GMPR2,downstream_gene_variant,,ENST00000348719,;GMPR2,downstream_gene_variant,,ENST00000557854,;TINF2,intron_variant,,ENST00000558510,;GMPR2,downstream_gene_variant,,ENST00000560517,;TINF2,non_coding_transcript_exon_variant,,ENST00000557830,;TINF2,non_coding_transcript_exon_variant,,ENST00000559147,;TINF2,upstream_gene_variant,,ENST00000559549,;GMPR2,downstream_gene_variant,,ENST00000558007,;GMPR2,downstream_gene_variant,,ENST00000559606,;GMPR2,downstream_gene_variant,,ENST00000561038,;TINF2,upstream_gene_variant,,ENST00000557915,;GMPR2,downstream_gene_variant,,ENST00000559287,;TINF2,upstream_gene_variant,,ENST00000558703,;GMPR2,downstream_gene_variant,,ENST00000561130,;	582	119	101	SUCCESS
NYNRIN	57523	.	GRCh37	14	24884995	24884995	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	78	0	ENST00000382554.3:c.4040C>T	p.Pro1347Leu	p.P1347L	ENST00000382554	NM_025081.2	1347	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45090.1	4040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCTTACA	NONE	.	.	Superfamily_domains:SSF53098,Gene3D:3.30.420.10,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious_low_confidence(0.04)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Pro1347Leu,ENST00000382554,;NYNRIN,downstream_gene_variant,,ENST00000554505,;	4358	78	43	SUCCESS
POTEB	100996331	.	GRCh37	15	22070562	22070562	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	23	0	ENST00000439682.1:c.993C>A	p.Ile331=	p.I331=	ENST00000439682	NM_001277304.1	331	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS59250.1	993	RADIA|VARSCANS	.	GAAGAGATTTT	NONE	.	.	hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118	.	.	ENSP00000457689	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000439682	Transcript	.	.	ENSG00000233917	33734	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	POTEB	HGNC	.	.	UPI0001A5E771	SNV	POTEB,synonymous_variant,p.%3D,ENST00000439682,;RNU6-631P,downstream_gene_variant,,ENST00000363920,;POTEB,non_coding_transcript_exon_variant,,ENST00000553662,;POTEB,synonymous_variant,p.%3D,ENST00000435397,;	1045	23	20	SUCCESS
MEIS2	4212	.	GRCh37	15	37186936	37186936	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	44	135	0	ENST00000561208.1:c.1147+416A>G		p.*383*	ENST00000561208				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10044.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGATTGCTT	NONE	.	.	.	.	.	ENSP00000453793	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000561208	Transcript	1	.	ENSG00000134138	7001	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,3_prime_UTR_variant,,ENST00000424352,;MEIS2,3_prime_UTR_variant,,ENST00000219869,;MEIS2,3_prime_UTR_variant,,ENST00000397620,;MEIS2,3_prime_UTR_variant,,ENST00000397624,;MEIS2,3_prime_UTR_variant,,ENST00000340545,;MEIS2,3_prime_UTR_variant,,ENST00000444725,;MEIS2,3_prime_UTR_variant,,ENST00000559085,;MEIS2,3_prime_UTR_variant,,ENST00000557796,;MEIS2,intron_variant,,ENST00000338564,;MEIS2,intron_variant,,ENST00000382766,;MEIS2,intron_variant,,ENST00000561208,;MEIS2,downstream_gene_variant,,ENST00000559561,;MEIS2,downstream_gene_variant,,ENST00000607277,;MEIS2,downstream_gene_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559371,;MEIS2,non_coding_transcript_exon_variant,,ENST00000558643,;MEIS2,non_coding_transcript_exon_variant,,ENST00000557992,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561284,;MEIS2,intron_variant,,ENST00000560702,;MEIS2,intron_variant,,ENST00000559972,;	.	135	92	SUCCESS
LRRC49	54839	.	GRCh37	15	71305223	71305225	+	inframe_deletion	In_Frame_Del	DEL	TCG	TCG	-	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	TCG	TCG	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	87	0	ENST00000260382.5:c.1676_1678del	p.Arg559del	p.R559del	ENST00000260382	NM_001199017.1	558	taTCGt/tat	0	.	.	.	.	.	-	YR/Y	protein_coding	YES	CCDS58376.1	1689-1691	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGTATCGTCTGA	CODON|p.R559C|c.1675C>T|3	.	.	hmmpanther:PTHR10588:SF5,hmmpanther:PTHR10588	.	.	ENSP00000453273	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000560369	Transcript	.	.	ENSG00000137821	25965	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRC49_HUMAN	LRRC49	HGNC	H0YNV5_HUMAN,H0YNI5_HUMAN,H0YLQ8_HUMAN,H0YKI5_HUMAN,H0YKE9_HUMAN	.	UPI0001E92A32	deletion	LRRC49,inframe_deletion,p.Arg559del,ENST00000260382,;LRRC49,inframe_deletion,p.Arg549del,ENST00000544974,;LRRC49,inframe_deletion,p.Arg247del,ENST00000560158,;LRRC49,inframe_deletion,p.Arg515del,ENST00000443425,;LRRC49,inframe_deletion,p.Arg564del,ENST00000560369,;LRRC49,inframe_deletion,p.Arg265del,ENST00000560691,;LRRC49,downstream_gene_variant,,ENST00000559069,;LRRC49,downstream_gene_variant,,ENST00000559806,;LRRC49,non_coding_transcript_exon_variant,,ENST00000436542,;LRRC49,downstream_gene_variant,,ENST00000559422,;LRRC49,3_prime_UTR_variant,,ENST00000560107,;LRRC49,3_prime_UTR_variant,,ENST00000561081,;LRRC49,downstream_gene_variant,,ENST00000559685,;	1958-1960	87	60	SUCCESS
ISL2	64843	.	GRCh37	15	76632778	76632778	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	58	178	0	ENST00000290759.4:c.673G>T	p.Val225Leu	p.V225L	ENST00000290759	NM_145805.1	225	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS10290.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGTGGAG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24204,hmmpanther:PTHR24204:SF2,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000290759	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000290759	Transcript	.	.	ENSG00000159556	18524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.78)	.	deleterious(0.04)	.	ISL2_HUMAN	ISL2	HGNC	.	.	UPI000012D8FC	SNV	ISL2,missense_variant,p.Val225Leu,ENST00000290759,;RP11-685G9.4,upstream_gene_variant,,ENST00000602530,;RP11-685G9.2,non_coding_transcript_exon_variant,,ENST00000559539,;ISL2,missense_variant,p.Gly137Val,ENST00000558656,;ISL2,downstream_gene_variant,,ENST00000558437,;	833	178	140	SUCCESS
LIG3	3980	.	GRCh37	17	33319683	33319683	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761685440	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	78	0	ENST00000378526.4:c.1427C>T	p.Ser476Leu	p.S476L	ENST00000378526	NM_013975.3	476	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS11284.2	1427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCGCTGA	NONE	byFrequency	.	hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,Gene3D:1x9nA01,TIGRFAM_domain:TIGR00574,Superfamily_domains:0050884,Superfamily_domains:SSF56091	.	.	ENSP00000367787	.	8/20	.	.	.	.	.	.	.	.	rs761685440,COSM3819303,COSM3819302	8/20	PASS	ENST00000378526	Transcript	.	.	ENSG00000005156	6600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.068)	.	deleterious(0.01)	0,1,1	DNLI3_HUMAN	LIG3	HGNC	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN	.	UPI0000350B71	SNV	LIG3,missense_variant,p.Ser476Leu,ENST00000378526,;LIG3,missense_variant,p.Ser476Leu,ENST00000262327,;LIG3,missense_variant,p.Ser485Leu,ENST00000585941,;LIG3,downstream_gene_variant,,ENST00000585740,;LIG3,downstream_gene_variant,,ENST00000592690,;LIG3,downstream_gene_variant,,ENST00000586407,;LIG3,non_coding_transcript_exon_variant,,ENST00000590630,;LIG3,upstream_gene_variant,,ENST00000588713,;LIG3,downstream_gene_variant,,ENST00000586435,;LIG3,downstream_gene_variant,,ENST00000588109,;LIG3,downstream_gene_variant,,ENST00000590181,;LIG3,upstream_gene_variant,,ENST00000586058,;LIG3,upstream_gene_variant,,ENST00000593099,;	1560	78	55	SUCCESS
THRA	7067	.	GRCh37	17	38230674	38230674	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	50	0	ENST00000264637.4:c.-62del		p.*21*	ENST00000264637	NM_003250.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11360.1	.	VARSCANI*|PINDEL	.	TGTGCCGGGGGG	NONE	.	.	.	.	.	ENSP00000264637	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000264637	Transcript	.	.	ENSG00000126351	11796	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THA_HUMAN	THRA	HGNC	J3QRW5_HUMAN,J3QRA9_HUMAN,J3QR26_HUMAN,J3KTF3_HUMAN	.	UPI0000136D1E	deletion	THRA,5_prime_UTR_variant,,ENST00000264637,;THRA,5_prime_UTR_variant,,ENST00000578218,;THRA,5_prime_UTR_variant,,ENST00000546243,;THRA,5_prime_UTR_variant,,ENST00000577288,;THRA,5_prime_UTR_variant,,ENST00000577486,;THRA,5_prime_UTR_variant,,ENST00000584985,;THRA,5_prime_UTR_variant,,ENST00000394121,;THRA,5_prime_UTR_variant,,ENST00000585047,;THRA,5_prime_UTR_variant,,ENST00000450525,;	513	50	33	SUCCESS
KRTAP4-4	84616	.	GRCh37	17	39316584	39316584	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	98	0	ENST00000390661.3:c.360C>T	p.Cys120=	p.C120=	ENST00000390661	NM_032524.1	120	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS11383.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000375076	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390661	Transcript	.	.	ENSG00000171396	16928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA44_HUMAN	KRTAP4-4	HGNC	.	.	UPI000006DEC1	SNV	KRTAP4-4,synonymous_variant,p.%3D,ENST00000390661,;	400	98	90	SUCCESS
TRIM25	7706	.	GRCh37	17	54981814	54981814	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	71	0	ENST00000316881.4:c.729A>C	p.Gln243His	p.Q243H	ENST00000316881	NM_005082.4	243	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS11591.1	729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTTGTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF293	.	.	ENSP00000323889	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000316881	Transcript	.	.	ENSG00000121060	12932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.08)	.	TRI25_HUMAN	TRIM25	HGNC	.	.	UPI00001AE6B8	SNV	TRIM25,missense_variant,p.Gln243His,ENST00000316881,;TRIM25,missense_variant,p.Gln243His,ENST00000537230,;TRIM25,non_coding_transcript_exon_variant,,ENST00000572550,;TRIM25,downstream_gene_variant,,ENST00000574997,;TRIM25,3_prime_UTR_variant,,ENST00000572021,;TRIM25,non_coding_transcript_exon_variant,,ENST00000570749,;TRIM25,upstream_gene_variant,,ENST00000570473,;	779	71	88	SUCCESS
MIR454	768216	.	GRCh37	17	57215151	57215151	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	41	115	0	ENST00000390180.1:n.83G>A		p.*28*	ENST00000390180				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45747.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCTATAA	NONE	.	.	.	.	.	ENSP00000333433	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330137	Transcript	.	.	ENSG00000182628	28006	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKA2_HUMAN	SKA2	HGNC	J3QL03_HUMAN	.	UPI0000070DA6	SNV	SKA2,intron_variant,,ENST00000580541,;SKA2,intron_variant,,ENST00000437036,;SKA2,intron_variant,,ENST00000583380,;SKA2,intron_variant,,ENST00000584089,;SKA2,intron_variant,,ENST00000581068,;SKA2,intron_variant,,ENST00000330137,;SKA2,intron_variant,,ENST00000578105,;MIR454,non_coding_transcript_exon_variant,,ENST00000390180,;SKA2,intron_variant,,ENST00000583927,;SKA2,intron_variant,,ENST00000578519,;SKA2,intron_variant,,ENST00000583976,;	.	115	131	SUCCESS
PSMD12	5718	.	GRCh37	17	65362710	65362710	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	22	0	ENST00000356126.3:c.-75C>A		p.*25*	ENST00000356126	NM_002816.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11669.1	.	MUTECT|MUSE	.	CCCGCGCACCC	NONE	.	.	.	.	.	ENSP00000348442	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000356126	Transcript	.	.	ENSG00000197170	9557	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSD12_HUMAN	PSMD12	HGNC	.	.	UPI0000132792	SNV	PSMD12,5_prime_UTR_variant,,ENST00000357146,;PSMD12,5_prime_UTR_variant,,ENST00000356126,;PSMD12,upstream_gene_variant,,ENST00000581618,;PSMD12,upstream_gene_variant,,ENST00000578015,;PSMD12,upstream_gene_variant,,ENST00000584008,;PSMD12,upstream_gene_variant,,ENST00000584289,;PSMD12,upstream_gene_variant,,ENST00000579365,;	34	22	12	SUCCESS
TTYH2	94015	.	GRCh37	17	72218751	72218751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	36	0	ENST00000269346.4:c.257C>A	p.Ser86Tyr	p.S86Y	ENST00000269346	NM_032646.5	86	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS32717.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCCTGCT	NONE	.	.	hmmpanther:PTHR12424:SF6,hmmpanther:PTHR12424,Pfam_domain:PF04906	.	.	ENSP00000269346	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000269346	Transcript	.	.	ENSG00000141540	13877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	tolerated(0.14)	.	TTYH2_HUMAN	TTYH2	HGNC	.	.	UPI00002001AA	SNV	TTYH2,missense_variant,p.Ser65Tyr,ENST00000529107,;TTYH2,missense_variant,p.Ser86Tyr,ENST00000269346,;TTYH2,upstream_gene_variant,,ENST00000578825,;	331	36	76	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	32	104	1	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	105	42	SUCCESS
DNAH17	8632	.	GRCh37	17	76503830	76503830	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	29	0	ENST00000389840.5:c.4282C>A	p.Pro1428Thr	p.P1428T	ENST00000389840		1428	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	.	4282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGGGTGCG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374490	.	28/81	.	.	.	.	.	.	.	.	.	28/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Pro1429Thr,ENST00000585328,;DNAH17,missense_variant,p.Pro1428Thr,ENST00000389840,;DNAH17-AS1,downstream_gene_variant,,ENST00000598378,;DNAH17,non_coding_transcript_exon_variant,,ENST00000587177,;	4407	29	26	SUCCESS
LSMD1	0	.	GRCh37	17	7760598	7760598	+	intron_variant	Intron	SNP	G	G	C	rs201706296	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	26	96	0	ENST00000575771.1:c.-75-82C>G		p.*25*	ENST00000575771		48		0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS11122.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGCACTC	NONE	.	.	.	.	.	ENSP00000332103	.	1/2	.	.	.	.	.	.	.	.	rs201706296	1/2	PASS	ENST00000333775	Transcript	.	.	ENSG00000183011	28212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated_low_confidence(0.05)	.	LSMD1_HUMAN	LSMD1	HGNC	.	.	UPI0000073595	SNV	LSMD1,missense_variant,p.Cys48Trp,ENST00000333775,;LSMD1,intron_variant,,ENST00000335155,;LSMD1,intron_variant,,ENST00000575071,;LSMD1,intron_variant,,ENST00000576861,;LSMD1,intron_variant,,ENST00000575208,;LSMD1,intron_variant,,ENST00000575771,;KDM6B,downstream_gene_variant,,ENST00000448097,;TMEM88,downstream_gene_variant,,ENST00000301599,;TMEM88,downstream_gene_variant,,ENST00000574668,;CYB5D1,upstream_gene_variant,,ENST00000570446,;CYB5D1,upstream_gene_variant,,ENST00000332439,;LSMD1,upstream_gene_variant,,ENST00000576384,;KDM6B,downstream_gene_variant,,ENST00000254846,;CYB5D1,upstream_gene_variant,,ENST00000571846,;LSMD1,downstream_gene_variant,,ENST00000570555,;CYB5D1,upstream_gene_variant,,ENST00000574357,;CYB5D1,upstream_gene_variant,,ENST00000574196,;CYB5D1,upstream_gene_variant,,ENST00000573940,;	575	96	32	SUCCESS
BAIAP2	10458	.	GRCh37	17	79082830	79082831	+	intron_variant	Intron	DEL	AG	AG	-	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	73	0	ENST00000321300.6:c.1535+523_1535+524del		p.*512*	ENST00000321300	NM_001144888.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11775.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTGAAGAGCTT	NONE	.	.	.	.	.	ENSP00000316338	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321300	Transcript	.	.	ENSG00000175866	947	2	.	MODIFIER	13/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAIP2_HUMAN	BAIAP2	HGNC	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN	.	UPI000000D762	deletion	BAIAP2,3_prime_UTR_variant,,ENST00000575712,;BAIAP2,3_prime_UTR_variant,,ENST00000321280,;BAIAP2,intron_variant,,ENST00000575841,;BAIAP2,intron_variant,,ENST00000575245,;BAIAP2,intron_variant,,ENST00000392411,;BAIAP2,intron_variant,,ENST00000428708,;BAIAP2,intron_variant,,ENST00000435091,;BAIAP2,intron_variant,,ENST00000572498,;BAIAP2,intron_variant,,ENST00000321300,;BAIAP2,downstream_gene_variant,,ENST00000416299,;BAIAP2,downstream_gene_variant,,ENST00000576756,;BAIAP2,3_prime_UTR_variant,,ENST00000572329,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000576995,;BAIAP2,intron_variant,,ENST00000576225,;	.	73	88	SUCCESS
GPS1	2873	.	GRCh37	17	80013670	80013670	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	70	0	ENST00000306823.6:c.815T>C	p.Leu272Pro	p.L272P	ENST00000306823		272	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS11800.1	923	MUTECT|MUSE	.	CCTGCTGGCTT	NONE	.	.	hmmpanther:PTHR14145:SF2,hmmpanther:PTHR14145,Pfam_domain:PF10602,Gene3D:1.25.40.10	.	.	ENSP00000376167	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000392358	Transcript	.	.	ENSG00000169727	4549	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.21)	.	CSN1_HUMAN	GPS1	HGNC	J3QS88_HUMAN,J3QL53_HUMAN,J3KTB0_HUMAN,J3KSA5_HUMAN,C9JFE4_HUMAN,A8K070_HUMAN	.	UPI0000231C2E	SNV	GPS1,missense_variant,p.Leu308Pro,ENST00000392358,;GPS1,missense_variant,p.Leu268Pro,ENST00000578552,;GPS1,missense_variant,p.Leu252Pro,ENST00000320548,;GPS1,missense_variant,p.Leu308Pro,ENST00000355130,;GPS1,missense_variant,p.Leu272Pro,ENST00000306823,;DUS1L,downstream_gene_variant,,ENST00000538833,;DUS1L,downstream_gene_variant,,ENST00000542088,;GPS1,downstream_gene_variant,,ENST00000583641,;GPS1,downstream_gene_variant,,ENST00000583009,;DUS1L,downstream_gene_variant,,ENST00000306796,;RFNG,upstream_gene_variant,,ENST00000310496,;DUS1L,downstream_gene_variant,,ENST00000577574,;GPS1,downstream_gene_variant,,ENST00000581418,;GPS1,downstream_gene_variant,,ENST00000581578,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,downstream_gene_variant,,ENST00000580716,;GPS1,downstream_gene_variant,,ENST00000583961,;GPS1,upstream_gene_variant,,ENST00000578168,;GPS1,downstream_gene_variant,,ENST00000582327,;DUS1L,downstream_gene_variant,,ENST00000354321,;RFNG,upstream_gene_variant,,ENST00000429557,;GPS1,downstream_gene_variant,,ENST00000583885,;GPS1,downstream_gene_variant,,ENST00000585084,;GPS1,downstream_gene_variant,,ENST00000584229,;GPS1,downstream_gene_variant,,ENST00000583983,;RFNG,upstream_gene_variant,,ENST00000584838,;GPS1,3_prime_UTR_variant,,ENST00000580141,;GPS1,3_prime_UTR_variant,,ENST00000584460,;GPS1,non_coding_transcript_exon_variant,,ENST00000392357,;GPS1,non_coding_transcript_exon_variant,,ENST00000578279,;RFNG,upstream_gene_variant,,ENST00000584515,;RFNG,upstream_gene_variant,,ENST00000582478,;RFNG,upstream_gene_variant,,ENST00000580953,;DUS1L,downstream_gene_variant,,ENST00000582407,;DUS1L,downstream_gene_variant,,ENST00000578846,;DUS1L,downstream_gene_variant,,ENST00000578264,;GPS1,downstream_gene_variant,,ENST00000580627,;GPS1,upstream_gene_variant,,ENST00000583486,;RFNG,upstream_gene_variant,,ENST00000584463,;GPS1,downstream_gene_variant,,ENST00000578642,;RFNG,upstream_gene_variant,,ENST00000578676,;DUS1L,downstream_gene_variant,,ENST00000584871,;DUS1L,downstream_gene_variant,,ENST00000579854,;DUS1L,downstream_gene_variant,,ENST00000580731,;DUS1L,downstream_gene_variant,,ENST00000578428,;GPS1,downstream_gene_variant,,ENST00000580723,;GPS1,downstream_gene_variant,,ENST00000578392,;	1272	70	54	SUCCESS
ZNF271	0	.	GRCh37	18	32888451	32888451	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	80	289	0	ENST00000399070.3:n.2845A>G		p.*949*	ENST00000399070				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGAAAAAC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399070	Transcript	.	.	ENSG00000257267	13065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF271	HGNC	.	.	.	SNV	ZNF271,non_coding_transcript_exon_variant,,ENST00000399070,;ZNF271,downstream_gene_variant,,ENST00000465539,;ZNF271,downstream_gene_variant,,ENST00000540308,;	2845	289	200	SUCCESS
TPGS2	25941	.	GRCh37	18	34385439	34385439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	145	0	ENST00000334295.4:c.280G>T	p.Ala94Ser	p.A94S	ENST00000334295	NM_001271949.1	94	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32817.1	280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCCATGC	NONE	.	.	Superfamily_domains:SSF160631,SMART_domains:SM00860,hmmpanther:PTHR31854	.	.	ENSP00000335144	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000334295	Transcript	.	.	ENSG00000134779	24561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.17)	.	TPGS2_HUMAN	TPGS2	HGNC	.	.	UPI0000201C11	SNV	TPGS2,missense_variant,p.Ala94Ser,ENST00000589049,;TPGS2,missense_variant,p.Ala94Ser,ENST00000590842,;TPGS2,missense_variant,p.Ala94Ser,ENST00000334295,;TPGS2,missense_variant,p.Ala82Ser,ENST00000587382,;TPGS2,missense_variant,p.Ala94Ser,ENST00000587129,;TPGS2,missense_variant,p.Ala51Ser,ENST00000591906,;TPGS2,intron_variant,,ENST00000593035,;TPGS2,intron_variant,,ENST00000383056,;TPGS2,downstream_gene_variant,,ENST00000590337,;TPGS2,intron_variant,,ENST00000590500,;TPGS2,3_prime_UTR_variant,,ENST00000591823,;TPGS2,3_prime_UTR_variant,,ENST00000590692,;TPGS2,3_prime_UTR_variant,,ENST00000585635,;TPGS2,downstream_gene_variant,,ENST00000587511,;TPGS2,downstream_gene_variant,,ENST00000587207,;	708	145	91	SUCCESS
ZNF20	7568	.	GRCh37	19	12244637	12244637	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	88	0	ENST00000334213.5:c.364A>G	p.Thr122Ala	p.T122A	ENST00000334213	NM_001203250.1	122	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS45986.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGTATTAA	NONE	.	.	SMART_domains:SM00355,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF121,PROSITE_profiles:PS50157	.	.	ENSP00000335437	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000334213	Transcript	.	.	ENSG00000132010	12992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.1)	.	ZNF20_HUMAN	ZNF20	HGNC	Q86XA2_HUMAN	.	UPI000013C404	SNV	ZNF20,missense_variant,p.Thr119Ala,ENST00000418866,;ZNF20,missense_variant,p.Thr122Ala,ENST00000334213,;ZNF20,intron_variant,,ENST00000600335,;ZNF20,non_coding_transcript_exon_variant,,ENST00000485451,;ZNF20,intron_variant,,ENST00000480770,;ZNF788,intron_variant,,ENST00000601686,;ZNF20,downstream_gene_variant,,ENST00000480477,;ZNF20,3_prime_UTR_variant,,ENST00000454949,;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000430024,;ZNF20,downstream_gene_variant,,ENST00000478942,;	589	89	64	SUCCESS
SYDE1	85360	.	GRCh37	19	15224669	15224669	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	108	0	ENST00000342784.2:c.2103C>T	p.Asp701=	p.D701=	ENST00000342784	NM_033025.4	701	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS12324.1	2103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGACTT	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,synonymous_variant,p.%3D,ENST00000600440,;SYDE1,synonymous_variant,p.%3D,ENST00000600252,;SYDE1,synonymous_variant,p.%3D,ENST00000342784,;ILVBL,downstream_gene_variant,,ENST00000598709,;SYDE1,downstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000534378,;ILVBL,downstream_gene_variant,,ENST00000263383,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000534806,;ILVBL,downstream_gene_variant,,ENST00000533148,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000596093,;ILVBL,downstream_gene_variant,,ENST00000524779,;ILVBL,downstream_gene_variant,,ENST00000525880,;	2134	108	75	SUCCESS
GPR42	2866	.	GRCh37	19	35862352	35862352	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs202072971	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	69	193	0	ENST00000454971.1:c.91C>G	p.Leu31Val	p.L31V	ENST00000454971		31	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	.	91	RADIA|SOMATICSNIPER|VARSCANS	.	TCCCCCTCAAC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF31,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000410925	.	2/2	.	.	.	.	.	.	.	.	rs202072971	2/2	PASS	ENST00000454971	Transcript	.	.	ENSG00000126251	4500	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.86)	.	GPR42_HUMAN	GPR42	HGNC	.	.	UPI0000040740	SNV	GPR42,missense_variant,p.Leu31Val,ENST00000597214,;GPR42,missense_variant,p.Leu31Val,ENST00000454971,;	292	193	196	SUCCESS
RPS16	6217	.	GRCh37	19	39926515	39926515	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	24	35	0	ENST00000251453.3:c.21G>T	p.Leu7=	p.L7=	ENST00000251453	NM_001020.4	7	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12535.1	21	RADIA|MUTECT|MUSE	.	GACTGCAGCGG	BUFFER|p.G5G|c.15C>T|3	.	.	hmmpanther:PTHR21569:SF4,hmmpanther:PTHR21569	.	.	ENSP00000251453	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000251453	Transcript	.	.	ENSG00000105193	10396	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RS16_HUMAN	RPS16	HGNC	.	.	UPI0000003EDD	SNV	RPS16,synonymous_variant,p.%3D,ENST00000251453,;RPS16,synonymous_variant,p.%3D,ENST00000599539,;RPS16,synonymous_variant,p.%3D,ENST00000339471,;RPS16,synonymous_variant,p.%3D,ENST00000601655,;RPS16,upstream_gene_variant,,ENST00000602153,;AC011500.1,upstream_gene_variant,,ENST00000396843,;SUPT5H,upstream_gene_variant,,ENST00000594990,;RPS16,upstream_gene_variant,,ENST00000599705,;RPS16,non_coding_transcript_exon_variant,,ENST00000601390,;RPS16,upstream_gene_variant,,ENST00000595386,;	74	35	34	SUCCESS
FCGBP	8857	.	GRCh37	19	40377204	40377204	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	20	0	ENST00000221347.6:c.11218C>A	p.Leu3740Met	p.L3740M	ENST00000221347	NM_003890.2	3740	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS12546.1	11218	RADIA|VARSCANS	.	GGGCAGCTTCA	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	24/36	.	.	.	.	.	.	.	.	.	24/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.887)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Leu3740Met,ENST00000221347,;FCGBP,non_coding_transcript_exon_variant,,ENST00000595713,;	11226	20	15	SUCCESS
PRSS57	400668	.	GRCh37	19	687062	687062	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs376121318	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	55	236	0	ENST00000329267.7:c.508G>T	p.Glu170Ter	p.E170*	ENST00000329267	NM_214710.3	170	Gag/Tag	0	A:0	.	.	.	.	A	E/*	protein_coding	YES	CCDS12041.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCTCAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF58,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	A:0.0003	ENSP00000327386	.	4/5	.	.	.	.	.	.	.	.	rs376121318	4/5	PASS	ENST00000329267	Transcript	.	.	ENSG00000185198	31397	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS57_HUMAN	PRSS57	HGNC	.	.	UPI000022AA4D	SNV	PRSS57,stop_gained,p.Glu170Ter,ENST00000329267,;FSTL3,downstream_gene_variant,,ENST00000166139,;FSTL3,downstream_gene_variant,,ENST00000592947,;RPS2P52,upstream_gene_variant,,ENST00000469610,;	538	237	140	SUCCESS
AMY1C	278	.	GRCh37	1	104297338	104297338	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs778192509	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	596	104	859	0	ENST00000370079.3:c.1003C>A	p.Leu335Met	p.L335M	ENST00000370079	NM_001008219.1	335	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS30784.1	1003	RADIA|MUSE|VARSCANS	.	TCAGGCTGTAC	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000359096	.	7/10	.	.	.	.	.	.	.	.	rs778192509	7/10	PASS	ENST00000370079	Transcript	.	.	ENSG00000187733	476	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.172)	.	tolerated(0.22)	.	AMY1_HUMAN	AMY1C	HGNC	Q5T085_HUMAN,Q5T084_HUMAN	.	UPI0000125AA9	SNV	AMY1C,missense_variant,p.Leu335Met,ENST00000370079,;	1067	859	700	SUCCESS
CD101	9398	.	GRCh37	1	117559864	117559864	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758967027	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	7	134	0	ENST00000256652.4:c.1381G>C	p.Ala461Pro	p.A461P	ENST00000256652	NM_004258.5	461	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS891.1	1381	MUTECT|MUSE	.	TTGTGGCTGGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF20,hmmpanther:PTHR12207,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256652	.	5/10	.	.	.	.	.	.	.	.	rs758967027	5/10	PASS	ENST00000256652	Transcript	.	.	ENSG00000134256	5949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious(0.02)	.	IGSF2_HUMAN	CD101	HGNC	.	.	UPI000013CF1F	SNV	CD101,missense_variant,p.Ala461Pro,ENST00000369470,;CD101,missense_variant,p.Ala461Pro,ENST00000256652,;	1439	134	110	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	85	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	85	58	SUCCESS
NBPF20	100288142	.	GRCh37	1	148252029	148252029	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782245518	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	355	10	305	0	ENST00000369202.1:c.13712A>T	p.Glu4571Val	p.E4571V	ENST00000369202	NM_001278267.1	4571	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	.	13712	MUTECT|MUSE	.	GTAGTTCAAAG	NONE	.	.	PROSITE_profiles:PS51316,Pfam_domain:PF06758	.	.	ENSP00000358203	.	111/111	.	.	.	.	.	.	.	.	rs782245518	111/111	PASS	ENST00000369202	Transcript	.	.	ENSG00000203832	32000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	.	.	.	NBPF20	HGNC	S4R3H5_HUMAN,I0CMK7_HUMAN,H7BY69_HUMAN,F5H1Q5_HUMAN,A2BH96_HUMAN	.	UPI000066DA61	SNV	NBPF20,missense_variant,p.Glu4571Val,ENST00000369202,;RP11-89F3.2,upstream_gene_variant,,ENST00000427732,;	13910	305	365	SUCCESS
PAQR6	79957	.	GRCh37	1	156214169	156214169	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	31	0	ENST00000292291.5:c.786C>A	p.Ile262=	p.I262=	ENST00000292291	NM_198406.2	262	atC/atA	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS1135.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGATGTG	NONE	.	.	.	.	.	ENSP00000338330	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000335852	Transcript	.	.	ENSG00000160781	30132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0)	.	PAQR6_HUMAN	PAQR6	HGNC	.	.	UPI000006F5D8	SNV	PAQR6,missense_variant,p.Ser180Tyr,ENST00000335852,;PAQR6,missense_variant,p.Ser180Tyr,ENST00000356983,;PAQR6,synonymous_variant,p.%3D,ENST00000540423,;PAQR6,synonymous_variant,p.%3D,ENST00000368270,;PAQR6,synonymous_variant,p.%3D,ENST00000340183,;PAQR6,synonymous_variant,p.%3D,ENST00000292291,;PMF1,downstream_gene_variant,,ENST00000567140,;PMF1,downstream_gene_variant,,ENST00000368273,;PMF1-BGLAP,downstream_gene_variant,,ENST00000490491,;PMF1,downstream_gene_variant,,ENST00000565805,;PMF1,downstream_gene_variant,,ENST00000368277,;SMG5,downstream_gene_variant,,ENST00000361813,;PMF1,downstream_gene_variant,,ENST00000368279,;PMF1-BGLAP,downstream_gene_variant,,ENST00000368276,;PMF1-BGLAP,downstream_gene_variant,,ENST00000320139,;BGLAP,downstream_gene_variant,,ENST00000368272,;PAQR6,non_coding_transcript_exon_variant,,ENST00000491107,;PAQR6,non_coding_transcript_exon_variant,,ENST00000492619,;PAQR6,non_coding_transcript_exon_variant,,ENST00000468632,;PAQR6,downstream_gene_variant,,ENST00000480773,;PAQR6,downstream_gene_variant,,ENST00000475507,;PAQR6,downstream_gene_variant,,ENST00000470198,;PMF1,downstream_gene_variant,,ENST00000497069,;BGLAP,downstream_gene_variant,,ENST00000471413,;	1155	31	46	SUCCESS
ATP1A2	477	.	GRCh37	1	160100081	160100081	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	rs746744495	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	74	0	ENST00000361216.3:c.1651G>T	p.Gly551Ter	p.G551*	ENST00000361216	NM_000702.3	551	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS1196.1	1651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGTGAG	NONE	.	.	hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,Pfam_domain:PF00702,Superfamily_domains:SSF81660	.	.	ENSP00000354490	.	12/23	.	.	.	.	.	.	.	.	rs746744495	12/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,stop_gained,p.Gly551Ter,ENST00000361216,;ATP1A2,stop_gained,p.Gly551Ter,ENST00000392233,;ATP1A2,stop_gained,p.Gly262Ter,ENST00000447527,;ATP1A2,splice_region_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;	1740	74	84	SUCCESS
DUSP27	0	.	GRCh37	1	167096907	167096907	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	13	143	0	ENST00000361200.2:c.2539C>T	p.Leu847Phe	p.L847F	ENST00000361200		847	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS30932.1	2539	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCTTAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.793)	.	deleterious(0)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Leu847Phe,ENST00000361200,;DUSP27,missense_variant,p.Leu847Phe,ENST00000443333,;DUSP27,missense_variant,p.Leu847Phe,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	2705	143	137	SUCCESS
PAPPA2	60676	.	GRCh37	1	176759102	176759102	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1468371812	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	106	0	ENST00000367662.3:c.4873G>A	p.Glu1625Lys	p.E1625K	ENST00000367662	NM_020318.2	1625	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS41438.1	4873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAACGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356634	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	tolerated(0.68)	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,missense_variant,p.Glu1625Lys,ENST00000367662,;PAPPA2,upstream_gene_variant,,ENST00000479836,;	6037	106	105	SUCCESS
TDRD5	163589	.	GRCh37	1	179564900	179564900	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs183977806	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	229	99	299	0	ENST00000294848.8:c.778A>T	p.Lys260Ter	p.K260*	ENST00000294848	NM_173533.3	260	Aag/Tag	0	.	G:0	.	G:0	.	T	K/*	protein_coding	YES	CCDS55663.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAAGTTA	NONE	by1000G	.	hmmpanther:PTHR22948	G:0	.	ENSP00000406052	G:0.001	4/18	.	.	.	.	.	.	.	.	rs183977806	4/18	PASS	ENST00000444136	Transcript	.	G:0.0002	ENSG00000162782	20614	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,stop_gained,p.Lys260Ter,ENST00000367614,;TDRD5,stop_gained,p.Lys260Ter,ENST00000444136,;TDRD5,stop_gained,p.Lys260Ter,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;	1028	299	328	SUCCESS
FAM129A	0	.	GRCh37	1	184764697	184764697	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201876014	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	48	55	0	ENST00000367511.3:c.2201C>A	p.Thr734Lys	p.T734K	ENST00000367511	NM_052966.3	734	aCg/aAg	0	.	A:0	.	A:0	.	T	T/K	protein_coding	YES	CCDS1364.1	2201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CATTCGTATCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR14392:SF3,hmmpanther:PTHR14392	A:0	.	ENSP00000356481	A:0.001	14/14	.	.	.	.	.	.	.	.	rs201876014	14/14	PASS	ENST00000367511	Transcript	.	A:0.0002	ENSG00000135842	16784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.059)	A:0	deleterious_low_confidence(0.04)	.	NIBAN_HUMAN	FAM129A	HGNC	.	.	UPI00000375B3	SNV	FAM129A,missense_variant,p.Thr734Lys,ENST00000367511,;FAM129A,intron_variant,,ENST00000417056,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;	2395	55	75	SUCCESS
UBR4	23352	.	GRCh37	1	19455517	19455517	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	34	153	0	ENST00000375254.3:c.8958T>G	p.Pro2986=	p.P2986=	ENST00000375254	NM_020765.2	2986	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS189.1	8958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGAGGCAG	NONE	.	.	hmmpanther:PTHR21725,Low_complexity_(Seg):seg	.	.	ENSP00000364403	.	61/106	.	.	.	.	.	.	.	.	.	61/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000417040,;UBR4,synonymous_variant,p.%3D,ENST00000425413,;UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000475973,;	8986	153	120	SUCCESS
MIR181A1	406995	.	GRCh37	1	198828250	198828250	+	mature_miRNA_variant	RNA	SNP	G	G	A	rs868055902	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	64	76	0	ENST00000385026.1:n.33C>T		p.*11*	ENST00000385026				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGTTGAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385026	Transcript	.	.	ENSG00000207759	31590	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR181A1	HGNC	.	.	.	SNV	MIR181A1,mature_miRNA_variant,,ENST00000385026,;MIR181A1HG,intron_variant,,ENST00000432296,;MIR181B1,upstream_gene_variant,,ENST00000385240,;	33	76	119	SUCCESS
C1orf106	0	.	GRCh37	1	200877890	200877890	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	288	43	262	0	ENST00000413687.2:c.607T>G	p.Ser203Ala	p.S203A	ENST00000413687	NM_001142569.2	203	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS44292.1	607	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16093:SF4,hmmpanther:PTHR16093	.	.	ENSP00000392105	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000413687	Transcript	.	.	ENSG00000163362	25599	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.31)	.	CA106_HUMAN	C1orf106	HGNC	E9PK29_HUMAN,C9JAT8_HUMAN	.	UPI0000204714	SNV	C1orf106,missense_variant,p.Ser288Ala,ENST00000367342,;C1orf106,missense_variant,p.Ser203Ala,ENST00000413687,;C1orf106,non_coding_transcript_exon_variant,,ENST00000526172,;C1orf106,downstream_gene_variant,,ENST00000531649,;C1orf106,upstream_gene_variant,,ENST00000465162,;	968	262	331	SUCCESS
CR2	1380	.	GRCh37	1	207649761	207649761	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	90	0	ENST00000367058.3:c.2722A>G	p.Lys908Glu	p.K908E	ENST00000367058	NM_001877.4	908	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS31007.1	2899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTAAAGGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	tolerated(0.11)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Lys881Glu,ENST00000458541,;CR2,missense_variant,p.Lys967Glu,ENST00000367057,;CR2,missense_variant,p.Lys908Glu,ENST00000367058,;CR2,intron_variant,,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000475194,;	3088	90	112	SUCCESS
ACTN2	88	.	GRCh37	1	236925852	236925852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	95	121	0	ENST00000366578.4:c.2618G>A	p.Gly873Asp	p.G873D	ENST00000366578	NM_001278344.1	873	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1613.1	2618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCAGTG	NONE	.	.	Pfam_domain:PF08726,Gene3D:1.10.238.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236	.	.	ENSP00000355537	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.96)	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,missense_variant,p.Gly873Asp,ENST00000542672,;ACTN2,missense_variant,p.Gly873Asp,ENST00000366578,;ACTN2,missense_variant,p.Gly367Asp,ENST00000546208,;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	2784	121	162	SUCCESS
ASAP3	55616	.	GRCh37	1	23763634	23763634	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1289039830	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	49	157	1	ENST00000336689.3:c.1331G>T	p.Cys444Phe	p.C444F	ENST00000336689	NM_017707.3	444	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS235.1	1331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCAGTCG	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF211,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405	.	.	ENSP00000338769	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000336689	Transcript	.	.	ENSG00000088280	14987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ASAP3_HUMAN	ASAP3	HGNC	H0YER8_HUMAN	.	UPI0000071371	SNV	ASAP3,missense_variant,p.Cys444Phe,ENST00000336689,;ASAP3,missense_variant,p.Cys435Phe,ENST00000437606,;ASAP3,upstream_gene_variant,,ENST00000465372,;ASAP3,upstream_gene_variant,,ENST00000495646,;ASAP3,3_prime_UTR_variant,,ENST00000492982,;ASAP3,3_prime_UTR_variant,,ENST00000475814,;ASAP3,non_coding_transcript_exon_variant,,ENST00000530874,;ASAP3,upstream_gene_variant,,ENST00000484418,;ASAP3,downstream_gene_variant,,ENST00000478858,;	1376	158	138	SUCCESS
TCEB3	0	.	GRCh37	1	24080866	24080866	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	93	0	ENST00000418390.2:c.1785G>A	p.Val595=	p.V595=	ENST00000418390	NM_003198.2	595	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS239.2	1785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGGGAGG	NONE	.	.	PROSITE_profiles:PS50181,hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141,Pfam_domain:PF06881	.	.	ENSP00000395574	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000418390	Transcript	.	.	ENSG00000011007	11620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOA1_HUMAN	TCEB3	HGNC	.	.	UPI000181BA17	SNV	TCEB3,synonymous_variant,p.%3D,ENST00000418390,;TCEB3,synonymous_variant,p.%3D,ENST00000609199,;TCEB3,downstream_gene_variant,,ENST00000487554,;	2056	93	96	SUCCESS
FUCA1	2517	.	GRCh37	1	24181042	24181042	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	97	0	ENST00000374479.3:c.777G>T	p.Val259=	p.V259=	ENST00000374479	NM_000147.4	259	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS244.2	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACCACCTC	NONE	.	.	Prints_domain:PR00741,Superfamily_domains:SSF51445,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Pfam_domain:PF01120,Gene3D:3.20.20.80,hmmpanther:PTHR10030:SF2,hmmpanther:PTHR10030	.	.	ENSP00000363603	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000374479	Transcript	.	.	ENSG00000179163	4006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUCO_HUMAN	FUCA1	HGNC	B5MDC5_HUMAN	.	UPI000013F479	SNV	FUCA1,synonymous_variant,p.%3D,ENST00000374479,;	785	97	60	SUCCESS
EXO1	9156	.	GRCh37	1	242052844	242052844	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1001293843	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	44	136	1	ENST00000348581.5:c.2483A>G	p.Glu828Gly	p.E828G	ENST00000348581	NM_003686.4	828	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1620.1	2483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGAAGAGG	NONE	.	.	.	.	.	ENSP00000355506	.	16/16	.	.	.	.	.	.	.	.	COSM1668620	16/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.055)	.	tolerated(0.09)	1	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Glu828Gly,ENST00000348581,;EXO1,missense_variant,p.Glu193Gly,ENST00000521202,;EXO1,missense_variant,p.Glu828Gly,ENST00000366548,;EXO1,3_prime_UTR_variant,,ENST00000518483,;EXO1,intron_variant,,ENST00000518741,;	3076	137	141	SUCCESS
OR2G6	391211	.	GRCh37	1	248685216	248685216	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	44	144	0	ENST00000343414.4:c.269A>T	p.Lys90Ile	p.K90I	ENST00000343414	NM_001013355.1	90	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS31119.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAAAACCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	COSM1341168	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0)	1	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,missense_variant,p.Lys90Ile,ENST00000343414,;	301	144	156	SUCCESS
LEPRE1	0	.	GRCh37	1	43212987	43212987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	81	0	ENST00000296388.5:c.2011G>A	p.Ala671Thr	p.A671T	ENST00000296388		671	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS57986.1	2011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCACAGC	NONE	.	.	SMART_domains:SM00702,Pfam_domain:PF13640,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF5,PROSITE_profiles:PS51471	.	.	ENSP00000236040	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000236040	Transcript	.	.	ENSG00000117385	19316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	P3H1_HUMAN	LEPRE1	HGNC	B4DTG8_HUMAN	.	UPI000013E32E	SNV	LEPRE1,missense_variant,p.Ala671Thr,ENST00000397054,;LEPRE1,missense_variant,p.Ala671Thr,ENST00000236040,;LEPRE1,missense_variant,p.Ala671Thr,ENST00000296388,;LEPRE1,downstream_gene_variant,,ENST00000447502,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000462474,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000495874,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460031,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000472802,;LEPRE1,downstream_gene_variant,,ENST00000481465,;LEPRE1,downstream_gene_variant,,ENST00000460831,;LEPRE1,downstream_gene_variant,,ENST00000431412,;	2052	81	68	SUCCESS
GGTLC1	92086	.	GRCh37	20	23966368	23966368	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	39	50	0	ENST00000278765.4:c.467A>G	p.Glu156Gly	p.E156G	ENST00000278765	NM_178312.2	156	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS13163.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTCCACG	BUFFER|p.W153R|c.457T>C|3,BUFFER|p.W153R|c.457T>C|3	.	.	hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686,Pfam_domain:PF01019,Superfamily_domains:SSF56235	.	.	ENSP00000337587	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000335694	Transcript	.	.	ENSG00000149435	16437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious(0.02)	.	GGTL1_HUMAN	GGTLC1	HGNC	.	.	UPI0000073C4D	SNV	GGTLC1,missense_variant,p.Glu156Gly,ENST00000286890,;GGTLC1,missense_variant,p.Glu156Gly,ENST00000335694,;GGTLC1,missense_variant,p.Glu156Gly,ENST00000278765,;POM121L3P,upstream_gene_variant,,ENST00000419331,;RP5-831C21.1,upstream_gene_variant,,ENST00000447582,;	672	50	60	SUCCESS
POFUT1	23509	.	GRCh37	20	30818724	30818724	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	5	97	0	ENST00000375749.3:c.838A>G	p.Met280Val	p.M280V	ENST00000375749	NM_015352.1	280	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS13198.1	838	MUTECT|MUSE	.	TCACGATGACT	NONE	.	.	Pfam_domain:PF10250,hmmpanther:PTHR21420:SF3,hmmpanther:PTHR21420	.	.	ENSP00000364902	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000375749	Transcript	1	.	ENSG00000101346	14988	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.51)	.	OFUT1_HUMAN	POFUT1	HGNC	B4DUV4_HUMAN	.	UPI0000130C42	SNV	POFUT1,missense_variant,p.Met69Val,ENST00000539210,;POFUT1,missense_variant,p.Met280Val,ENST00000375749,;POFUT1,non_coding_transcript_exon_variant,,ENST00000465791,;POFUT1,non_coding_transcript_exon_variant,,ENST00000486717,;POFUT1,upstream_gene_variant,,ENST00000434904,;	900	97	112	SUCCESS
OCSTAMP	128506	.	GRCh37	20	45170022	45170022	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	94	173	1	ENST00000279028.2:c.1592G>T	p.Arg531Leu	p.R531L	ENST00000279028	NM_080721.2	531	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS54468.1	1592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCGAGGC	NONE	.	.	hmmpanther:PTHR21041:SF3,hmmpanther:PTHR21041	.	.	ENSP00000279028	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000279028	Transcript	.	.	ENSG00000149635	16116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.28)	.	OCSTP_HUMAN	OCSTAMP	HGNC	.	.	UPI00006C1A90	SNV	OCSTAMP,missense_variant,p.Arg531Leu,ENST00000279028,;	1606	174	220	SUCCESS
EYA2	2139	.	GRCh37	20	45607111	45607111	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	39	0	ENST00000327619.5:c.-10-11529C>T		p.*4*	ENST00000327619	NM_005244.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13403.1	.	MUTECT|MUSE	.	AACAGCATGTA	NONE	.	.	.	.	.	ENSP00000333640	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327619	Transcript	.	.	ENSG00000064655	3520	.	.	MODIFIER	1/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EYA2_HUMAN	EYA2	HGNC	O60647_HUMAN	.	UPI000012A3B4	SNV	EYA2,intron_variant,,ENST00000327619,;EYA2,intron_variant,,ENST00000357410,;EYA2,non_coding_transcript_exon_variant,,ENST00000497428,;EYA2,upstream_gene_variant,,ENST00000479843,;EYA2,upstream_gene_variant,,ENST00000471081,;EYA2,intron_variant,,ENST00000497062,;	.	39	40	SUCCESS
CDH4	1002	.	GRCh37	20	60318655	60318655	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs182629710	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	41	132	0	ENST00000360469.5:c.206A>G	p.Gln69Arg	p.Q69R	ENST00000360469	NM_001794.3	69	cAa/cGa	0	.	G:0	.	G:0.0014	.	G	Q/R	protein_coding	YES	CCDS13488.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACAATATG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM01055,Pfam_domain:PF08758,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81	G:0	.	ENSP00000353656	G:0	3/16	.	.	.	.	.	.	.	.	rs182629710	3/16	PASS	ENST00000360469	Transcript	.	G:0.0002	ENSG00000179242	1763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	G:0	tolerated(0.35)	.	CADH4_HUMAN	CDH4	HGNC	Q8ND09_HUMAN	.	UPI000015FE86	SNV	CDH4,missense_variant,p.Gln69Arg,ENST00000360469,;CDH4,5_prime_UTR_variant,,ENST00000543233,;RP11-429E11.2,intron_variant,,ENST00000442888,;RP11-429E11.2,intron_variant,,ENST00000447909,;	294	132	175	SUCCESS
LAMP5	24141	.	GRCh37	20	9495353	9495353	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	19	0	ENST00000246070.2:c.-147C>A		p.*49*	ENST00000246070	NM_012261.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13106.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTAGGCGCTCA	NONE	.	.	.	.	.	ENSP00000246070	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,5_prime_UTR_variant,,ENST00000246070,;LAMP5,5_prime_UTR_variant,,ENST00000427562,;RP5-1119D9.4,intron_variant,,ENST00000443469,;	346	19	20	SUCCESS
DIP2A	23181	.	GRCh37	21	47976001	47976001	+	synonymous_variant	Silent	SNP	G	G	T	rs749072865	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	102	0	ENST00000417564.2:c.3495G>T	p.Val1165=	p.V1165=	ENST00000417564		1165	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46655.1	3495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGAAGGT	NONE	byFrequency	.	hmmpanther:PTHR22754:SF24,hmmpanther:PTHR22754,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000392066	.	29/38	.	.	.	.	.	.	.	.	rs749072865	29/38	PASS	ENST00000417564	Transcript	.	.	ENSG00000160305	17217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIP2A_HUMAN	DIP2A	HGNC	Q9NSX6_HUMAN,Q96NX2_HUMAN	.	UPI00001B2E47	SNV	DIP2A,synonymous_variant,p.%3D,ENST00000427143,;DIP2A,synonymous_variant,p.%3D,ENST00000400274,;DIP2A,synonymous_variant,p.%3D,ENST00000417564,;DIP2A,synonymous_variant,p.%3D,ENST00000318711,;DIP2A,non_coding_transcript_exon_variant,,ENST00000481883,;DIP2A,non_coding_transcript_exon_variant,,ENST00000472364,;	3516	102	66	SUCCESS
POTEH	23784	.	GRCh37	22	16287880	16287880	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	344	101	659	0	ENST00000343518.6:c.6G>T	p.Val2=	p.V2=	ENST00000343518	NM_001136213.1	2	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46658.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCACCAT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,synonymous_variant,p.%3D,ENST00000343518,;POTEH,upstream_gene_variant,,ENST00000452800,;	58	659	446	SUCCESS
SEZ6L	23544	.	GRCh37	22	26702012	26702012	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	76	1	ENST00000248933.6:c.1416C>G	p.Asn472Lys	p.N472K	ENST00000248933		472	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS13833.1	1416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACACAAA	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS01180	.	.	ENSP00000248933	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.01)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Asn472Lys,ENST00000529632,;SEZ6L,missense_variant,p.Asn472Lys,ENST00000248933,;SEZ6L,missense_variant,p.Asn472Lys,ENST00000360929,;SEZ6L,missense_variant,p.Asn472Lys,ENST00000343706,;SEZ6L,missense_variant,p.Asn245Lys,ENST00000402979,;SEZ6L,missense_variant,p.Asn245Lys,ENST00000403121,;SEZ6L,missense_variant,p.Asn472Lys,ENST00000404234,;	1511	77	48	SUCCESS
TRIOBP	11078	.	GRCh37	22	38122331	38122331	+	synonymous_variant	Silent	SNP	G	G	A	rs756831977	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	38	143	0	ENST00000406386.3:c.3768G>A	p.Ala1256=	p.A1256=	ENST00000406386	NM_001039141.2	1256	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43015.1	3768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCCTCC	NONE	byFrequency	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271,Low_complexity_(Seg):seg	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs756831977	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,synonymous_variant,p.%3D,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	4023	144	71	SUCCESS
SREBF2	6721	.	GRCh37	22	42273342	42273342	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	37	97	0	ENST00000361204.4:c.1496C>G	p.Ser499Cys	p.S499C	ENST00000361204	NM_004599.3	499	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS14023.1	1496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCCCTGC	NONE	.	.	hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565	.	.	ENSP00000354476	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	deleterious(0)	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	SNV	SREBF2,missense_variant,p.Ser499Cys,ENST00000361204,;SREBF2,missense_variant,p.Ser499Cys,ENST00000424354,;SREBF2,non_coding_transcript_exon_variant,,ENST00000464119,;SREBF2,non_coding_transcript_exon_variant,,ENST00000462539,;	1662	97	66	SUCCESS
NPHP1	4867	.	GRCh37	2	110935918	110935918	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	18	0	ENST00000393272.3:c.329+82G>A		p.*110*	ENST00000393272	NM_207181.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2086.1	.	MUTECT|MUSE	.	TACTGCTATAT	NONE	.	.	.	.	.	ENSP00000313169	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316534	Transcript	.	.	ENSG00000144061	7905	.	.	MODIFIER	4/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPHP1_HUMAN	NPHP1	HGNC	.	.	UPI0000358960	SNV	NPHP1,3_prime_UTR_variant,,ENST00000418527,;NPHP1,intron_variant,,ENST00000445609,;NPHP1,intron_variant,,ENST00000355301,;NPHP1,intron_variant,,ENST00000316534,;NPHP1,intron_variant,,ENST00000417665,;NPHP1,intron_variant,,ENST00000393272,;NPHP1,intron_variant,,ENST00000496524,;NPHP1,intron_variant,,ENST00000461707,;NPHP1,downstream_gene_variant,,ENST00000449600,;	.	18	13	SUCCESS
IWS1	55677	.	GRCh37	2	128255759	128255759	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	51	184	0	ENST00000295321.4:c.1522G>C	p.Ala508Pro	p.A508P	ENST00000295321	NM_017969.2	508	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS2146.1	1522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCTTCTT	NONE	.	.	hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908	.	.	ENSP00000295321	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	deleterious(0.02)	.	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,missense_variant,p.Ala508Pro,ENST00000295321,;IWS1,intron_variant,,ENST00000455721,;AC010976.2,intron_variant,,ENST00000599001,;IWS1,downstream_gene_variant,,ENST00000497888,;	1782	184	117	SUCCESS
ACVR2A	92	.	GRCh37	2	148684720	148684736	+	frameshift_variant	Frame_Shift_Del	DEL	ATGTGTAGGTGAAAGAA	ATGTGTAGGTGAAAGAA	-	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	ATGTGTAGGTGAAAGAA	ATGTGTAGGTGAAAGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	131	0	ENST00000241416.7:c.1419_1435del	p.Cys474TyrfsTer26	p.C474Yfs*26	ENST00000241416	NM_001616.4	473	ggATGTGTAGGTGAAAGAAtt/ggtt	0	.	.	.	.	.	-	GCVGERI/GX	protein_coding	YES	CCDS33301.1	1419-1435	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTGGATGTGTAGGTGAAAGAATTACC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	deletion	ACVR2A,frameshift_variant,p.Cys474TyrfsTer26,ENST00000241416,;ACVR2A,frameshift_variant,p.Cys474TyrfsTer26,ENST00000404590,;ACVR2A,frameshift_variant,p.Cys366TyrfsTer26,ENST00000535787,;ORC4,downstream_gene_variant,,ENST00000392857,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	2055-2071	131	61	SUCCESS
CCDC108	0	.	GRCh37	2	219878253	219878253	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	85	273	2	ENST00000341552.5:c.3834C>A	p.Gly1278=	p.G1278=	ENST00000341552	NM_194302.3	1278	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2430.2	3834	RADIA|SOMATICSNIPER|VARSCANS	.	TCCCGGCCATG	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	23/35	.	.	.	.	.	.	.	.	.	23/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,synonymous_variant,p.%3D,ENST00000453220,;CCDC108,synonymous_variant,p.%3D,ENST00000341552,;CCDC108,synonymous_variant,p.%3D,ENST00000441968,;CCDC108,downstream_gene_variant,,ENST00000413871,;AC097468.4,intron_variant,,ENST00000441450,;	3918	275	173	SUCCESS
PER2	8864	.	GRCh37	2	239184411	239184411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	119	0	ENST00000254657.3:c.421G>T	p.Ala141Ser	p.A141S	ENST00000254657	NM_022817.2	141	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2528.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGTACT	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	.	.	ENSP00000254657	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,missense_variant,p.Ala141Ser,ENST00000355768,;PER2,missense_variant,p.Ala141Ser,ENST00000254658,;PER2,missense_variant,p.Ala141Ser,ENST00000440245,;PER2,missense_variant,p.Ala141Ser,ENST00000254657,;PER2,downstream_gene_variant,,ENST00000431832,;	701	119	73	SUCCESS
C2orf16	84226	.	GRCh37	2	27804119	27804119	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	110	0	ENST00000408964.2:c.4680C>T	p.Asn1560=	p.N1560=	ENST00000408964	NM_032266.3	1560	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS42666.1	4680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAACCCCTC	NONE	.	.	.	.	.	ENSP00000386190	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408964	Transcript	.	.	ENSG00000221843	25275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB016_HUMAN	C2orf16	HGNC	.	.	UPI0000D61179	SNV	C2orf16,synonymous_variant,p.%3D,ENST00000408964,;ZNF512,upstream_gene_variant,,ENST00000355467,;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,downstream_gene_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	4731	110	77	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43937431	43937431	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs183194066	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	165	0	ENST00000282406.4:c.2176G>A	p.Val726Ile	p.V726I	ENST00000282406	NM_172069.3	726	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1812.1	2176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTGTTCTT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000282406	.	13/30	.	.	.	.	.	.	.	.	rs183194066	13/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	tolerated(0.1)	.	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Val726Ile,ENST00000282406,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;	2286	165	121	SUCCESS
EML6	400954	.	GRCh37	2	55186295	55186295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	86	0	ENST00000356458.6:c.4750C>A	p.His1584Asn	p.H1584N	ENST00000356458	NM_001039753.2	1584	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS46286.1	4750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCACTTC	NONE	.	.	hmmpanther:PTHR13720:SF8,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000348842	.	33/41	.	.	.	.	.	.	.	.	.	33/41	PASS	ENST00000356458	Transcript	.	.	ENSG00000214595	35412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.34)	.	EMAL6_HUMAN	EML6	HGNC	.	.	UPI00006C0432	SNV	EML6,missense_variant,p.His1584Asn,ENST00000356458,;EML6,non_coding_transcript_exon_variant,,ENST00000481376,;EML6,non_coding_transcript_exon_variant,,ENST00000490828,;EML6,upstream_gene_variant,,ENST00000472965,;	5270	86	58	SUCCESS
PNO1	56902	.	GRCh37	2	68389783	68389783	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	233	48	434	0	ENST00000263657.2:c.608T>C	p.Val203Ala	p.V203A	ENST00000263657	NM_020143.2	203	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1885.1	608	RADIA|MUTECT|MUSE|VARSCANS	.	GATAGTTTTGG	NONE	.	.	hmmpanther:PTHR12826,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000263657	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000263657	Transcript	.	.	ENSG00000115946	32790	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PNO1_HUMAN	PNO1	HGNC	.	.	UPI00000738E7	SNV	PNO1,missense_variant,p.Val203Ala,ENST00000263657,;RP11-474G23.1,intron_variant,,ENST00000406334,;PNO1,downstream_gene_variant,,ENST00000430742,;	699	435	281	SUCCESS
IGKV1-27	28935	.	GRCh37	2	89513063	89513063	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	70	220	0	ENST00000498435.1:c.196C>A	p.Pro66Thr	p.P66T	ENST00000498435		66	Cct/Act	0	.	.	.	.	.	T	P/T	IG_V_gene	YES	.	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGGAACTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF132,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000418903	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000498435	Transcript	.	.	ENSG00000244575	5735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious(0.01)	.	.	IGKV1-27	HGNC	.	.	UPI000173A598	SNV	IGKV1-27,missense_variant,p.Pro66Thr,ENST00000498435,;	227	220	133	SUCCESS
ITGB5	3693	.	GRCh37	3	124483275	124483275	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	80	0	ENST00000296181.4:c.2267del	p.Lys756SerfsTer76	p.K756Sfs*76	ENST00000296181	NM_002213.3	756	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS3030.1	2267	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAACTTTGCA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF08725,Gene3D:1m8oB00,PIRSF_domain:PIRSF002512	.	.	ENSP00000296181	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	deletion	ITGB5,frameshift_variant,p.Lys756SerfsTer76,ENST00000296181,;ITGB5,downstream_gene_variant,,ENST00000481591,;ITGB5,downstream_gene_variant,,ENST00000461306,;ITGB5,non_coding_transcript_exon_variant,,ENST00000460797,;	2564	80	75	SUCCESS
KY	339855	.	GRCh37	3	134346635	134346635	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	115	0	ENST00000423778.2:c.363C>A	p.Asn121Lys	p.N121K	ENST00000423778	NM_178554.4	121	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46920.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTGTTTCC	NONE	.	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31	.	.	ENSP00000397598	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000423778	Transcript	.	.	ENSG00000174611	26576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.19)	.	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,missense_variant,p.Asn121Lys,ENST00000503669,;KY,missense_variant,p.Asn121Lys,ENST00000423778,;KY,missense_variant,p.Asn100Lys,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;KY,non_coding_transcript_exon_variant,,ENST00000508041,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;	425	115	84	SUCCESS
LEKR1	389170	.	GRCh37	3	156729254	156729254	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772133322	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	58	1	ENST00000470811.1:c.250C>A	p.Leu84Ile	p.L84I	ENST00000470811		84	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	.	.	1162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCTTAGA	NONE	.	.	.	.	.	ENSP00000348936	.	10/13	.	.	.	.	.	.	.	.	rs772133322	10/13	PASS	ENST00000356539	Transcript	.	.	ENSG00000197980	33765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	tolerated(0.07)	.	.	LEKR1	HGNC	J3KP02_HUMAN	.	UPI0001BB2D45	SNV	LEKR1,missense_variant,p.Leu388Ile,ENST00000356539,;LEKR1,missense_variant,p.Leu84Ile,ENST00000470811,;	1276	59	28	SUCCESS
BCHE	590	.	GRCh37	3	165503966	165503966	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	42	87	0	ENST00000264381.3:c.1651A>G	p.Thr551Ala	p.T551A	ENST00000264381	NM_000055.2	551	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3198.1	1651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTCCAGA	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF154,hmmpanther:PTHR11559	.	.	ENSP00000264381	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000264381	Transcript	.	.	ENSG00000114200	983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.03)	.	CHLE_HUMAN	BCHE	HGNC	Q96HL2_HUMAN,F8WF14_HUMAN,D3DNN4_HUMAN	.	UPI0000127866	SNV	BCHE,missense_variant,p.Thr13Ala,ENST00000540653,;BCHE,missense_variant,p.Thr551Ala,ENST00000264381,;BCHE,missense_variant,p.Thr81Ala,ENST00000479451,;BCHE,missense_variant,p.Thr81Ala,ENST00000488954,;BCHE,missense_variant,p.Thr551Ala,ENST00000497011,;BCHE,3_prime_UTR_variant,,ENST00000482958,;	1818	87	79	SUCCESS
RASSF1	11186	.	GRCh37	3	50374824	50374824	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	31	0	ENST00000357043.2:c.369+512A>C		p.*123*	ENST00000357043				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2820.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGTACGCG	NONE	.	.	.	.	.	ENSP00000349547	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357043	Transcript	.	.	ENSG00000068028	9882	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF1_HUMAN	RASSF1	HGNC	Q1W2K8_HUMAN	.	UPI000006FD97	SNV	RASSF1,5_prime_UTR_variant,,ENST00000327761,;RASSF1,intron_variant,,ENST00000359365,;RASSF1,intron_variant,,ENST00000357043,;RASSF1,intron_variant,,ENST00000395126,;ZMYND10,downstream_gene_variant,,ENST00000442887,;ZMYND10,downstream_gene_variant,,ENST00000360165,;ZMYND10,downstream_gene_variant,,ENST00000231749,;ZMYND10-AS1,upstream_gene_variant,,ENST00000440013,;RASSF1,non_coding_transcript_exon_variant,,ENST00000488024,;ZMYND10,downstream_gene_variant,,ENST00000490675,;RASSF1,non_coding_transcript_exon_variant,,ENST00000478619,;RASSF1,non_coding_transcript_exon_variant,,ENST00000494145,;RASSF1,intron_variant,,ENST00000395117,;RASSF1,intron_variant,,ENST00000482447,;ZMYND10,downstream_gene_variant,,ENST00000475688,;	.	31	26	SUCCESS
EIF4E	1977	.	GRCh37	4	99823068	99823068	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	35	122	0	ENST00000280892.6:c.144T>G	p.Val48=	p.V48=	ENST00000280892	NM_001130678.1	48	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS54779.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCAACCTC	NONE	.	.	hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF14,Gene3D:3.30.760.10	.	.	ENSP00000425561	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000505992	Transcript	1	.	ENSG00000151247	3287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4E_HUMAN	EIF4E	HGNC	D6RFJ3_HUMAN	.	UPI00017BAF0A	SNV	EIF4E,synonymous_variant,p.%3D,ENST00000504432,;EIF4E,synonymous_variant,p.%3D,ENST00000450253,;EIF4E,synonymous_variant,p.%3D,ENST00000511644,;EIF4E,synonymous_variant,p.%3D,ENST00000280892,;EIF4E,synonymous_variant,p.%3D,ENST00000505992,;EIF4E,non_coding_transcript_exon_variant,,ENST00000504472,;EIF4E,synonymous_variant,p.%3D,ENST00000515638,;EIF4E,non_coding_transcript_exon_variant,,ENST00000507665,;	105	122	43	SUCCESS
PCDHB6	56130	.	GRCh37	5	140529886	140529886	+	synonymous_variant	Silent	SNP	C	C	T	rs143226291	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	95	0	ENST00000231136.1:c.48C>T	p.Phe16=	p.F16=	ENST00000231136	NM_018939.2	16	ttC/ttT	0	T:0	.	.	.	.	T	F	protein_coding	YES	CCDS4248.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCATTTT	NONE	byCluster	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	.	T:0.0002	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	rs143226291	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,synonymous_variant,p.%3D,ENST00000231136,;PCDHB6,intron_variant,,ENST00000543635,;	48	95	57	SUCCESS
N4BP3	23138	.	GRCh37	5	177548620	177548620	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	35	101	0	ENST00000274605.5:c.1253A>G	p.Glu418Gly	p.E418G	ENST00000274605	NM_015111.1	418	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34307.1	1253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGAGCTGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32274,Pfam_domain:PF06818	.	.	ENSP00000274605	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000274605	Transcript	.	.	ENSG00000145911	29852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	N4BP3_HUMAN	N4BP3	HGNC	.	.	UPI00001C1E2A	SNV	N4BP3,missense_variant,p.Glu418Gly,ENST00000274605,;	1612	101	78	SUCCESS
NT5DC1	221294	.	GRCh37	6	116427435	116427435	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	98	0	ENST00000319550.4:c.122T>G	p.Leu41Arg	p.L41R	ENST00000319550	NM_152729.2	41	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS5104.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTAGTTA	NONE	.	.	hmmpanther:PTHR12103:SF13,hmmpanther:PTHR12103,Pfam_domain:PF05761,Superfamily_domains:SSF56784	.	.	ENSP00000326858	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000319550	Transcript	.	.	ENSG00000178425	21556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	NT5D1_HUMAN	NT5DC1	HGNC	.	.	UPI000020E135	SNV	NT5DC1,missense_variant,p.Leu41Arg,ENST00000319550,;NT5DC1,missense_variant,p.Leu41Arg,ENST00000419791,;NT5DC1,upstream_gene_variant,,ENST00000417846,;	204	98	62	SUCCESS
KCNK17	89822	.	GRCh37	6	39271872	39271872	+	synonymous_variant	Silent	SNP	G	G	T	rs374325536	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	55	88	0	ENST00000373231.4:c.549C>A	p.Gly183=	p.G183=	ENST00000373231	NM_031460.3	183	ggC/ggA	0	A:0	.	.	.	.	T	G	protein_coding	YES	CCDS4842.1	549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGCCAGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF24,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324	.	A:0.0001	ENSP00000362328	.	4/5	.	.	.	.	.	.	.	.	rs374325536	4/5	PASS	ENST00000373231	Transcript	.	.	ENSG00000124780	14465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKH_HUMAN	KCNK17	HGNC	.	.	UPI0000127A59	SNV	KCNK17,synonymous_variant,p.%3D,ENST00000373231,;KCNK17,synonymous_variant,p.%3D,ENST00000453413,;KCNK17,non_coding_transcript_exon_variant,,ENST00000503878,;	782	88	106	SUCCESS
KIF6	221458	.	GRCh37	6	39607459	39607459	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	56	106	0	ENST00000287152.7:c.326G>A	p.Gly109Glu	p.G109E	ENST00000287152	NM_145027.4	109	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS4844.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCCTGTG	NONE	.	.	Prints_domain:PR00380,Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115,PROSITE_profiles:PS50067	.	.	ENSP00000287152	.	4/23	.	.	.	.	.	.	.	.	COSM3627031,COSM3627030,COSM3627032	4/23	PASS	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,missense_variant,p.Gly109Glu,ENST00000287152,;KIF6,missense_variant,p.Gly109Glu,ENST00000373215,;KIF6,missense_variant,p.Gly109Glu,ENST00000373216,;KIF6,missense_variant,p.Gly109Glu,ENST00000538893,;KIF6,coding_sequence_variant,p.%3D,ENST00000458470,;KIF6,non_coding_transcript_exon_variant,,ENST00000482238,;	421	106	96	SUCCESS
SND1	27044	.	GRCh37	7	127347629	127347629	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	16	85	0	ENST00000354725.3:c.966G>T	p.Arg322Ser	p.R322S	ENST00000354725	NM_014390.2	322	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS34747.1	966	RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCTGAG	NONE	.	.	PROSITE_profiles:PS50830,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00565,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,SMART_domains:SM00318,Superfamily_domains:0047647	.	.	ENSP00000346762	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.673)	.	deleterious(0)	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,missense_variant,p.Arg322Ser,ENST00000354725,;SND1,downstream_gene_variant,,ENST00000492772,;SND1,downstream_gene_variant,,ENST00000483503,;	1160	85	100	SUCCESS
PLXNA4	91584	.	GRCh37	7	131848926	131848926	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	87	0	ENST00000321063.4:c.4475G>A	p.Arg1492His	p.R1492H	ENST00000321063	NM_020911.1	1492	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43646.1	4475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGGATG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337	.	.	ENSP00000352882	.	24/32	.	.	.	.	.	.	.	.	COSM452346,COSM452347	24/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.897)	.	deleterious(0)	1,1	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Arg1492His,ENST00000321063,;PLXNA4,missense_variant,p.Arg1492His,ENST00000359827,;	5438	87	90	SUCCESS
ELFN1	392617	.	GRCh37	7	1785060	1785060	+	synonymous_variant	Silent	SNP	G	G	T	rs767292946	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	66	0	ENST00000424383.2:c.828G>T	p.Pro276=	p.P276=	ENST00000424383		276	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS59046.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGCCGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF34	.	.	ENSP00000456548	.	3/3	.	.	.	.	.	.	.	.	rs767292946	3/3	PASS	ENST00000424383	Transcript	.	.	ENSG00000225968	33154	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELFN1_HUMAN	ELFN1	HGNC	.	.	UPI0000251E11	SNV	ELFN1,synonymous_variant,p.%3D,ENST00000561626,;ELFN1,synonymous_variant,p.%3D,ENST00000424383,;ELFN1,synonymous_variant,p.%3D,ENST00000541472,;AC074389.9,upstream_gene_variant,,ENST00000415399,;AC074389.9,upstream_gene_variant,,ENST00000453348,;	1315	66	74	SUCCESS
DNAH11	8701	.	GRCh37	7	21678600	21678600	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	89	155	0	ENST00000409508.3:c.4861A>T	p.Lys1621Ter	p.K1621*	ENST00000409508	NM_001277115.1	1621	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	.	4876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAAGCGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000330671	.	28/83	.	.	.	.	.	.	.	.	.	28/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,stop_gained,p.Lys1626Ter,ENST00000328843,;DNAH11,stop_gained,p.Lys1621Ter,ENST00000409508,;DNAH11,downstream_gene_variant,,ENST00000465593,;	4907	155	177	SUCCESS
CDCA7L	55536	.	GRCh37	7	21985480	21985480	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	96	151	1	ENST00000406877.3:c.-58G>T		p.*20*	ENST00000406877	NM_018719.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5374.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCACGG	NONE	.	.	.	.	.	ENSP00000383986	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000406877	Transcript	.	.	ENSG00000164649	30777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDA7L_HUMAN	CDCA7L	HGNC	C9JFL7_HUMAN	.	UPI000000D840	SNV	CDCA7L,5_prime_UTR_variant,,ENST00000457951,;CDCA7L,5_prime_UTR_variant,,ENST00000373934,;CDCA7L,5_prime_UTR_variant,,ENST00000356195,;CDCA7L,5_prime_UTR_variant,,ENST00000447180,;CDCA7L,5_prime_UTR_variant,,ENST00000406877,;CDCA7L,upstream_gene_variant,,ENST00000435031,;	223	152	208	SUCCESS
BMPER	168667	.	GRCh37	7	33945272	33945272	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs866309179	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	47	0	ENST00000297161.2:c.47G>T	p.Arg16Leu	p.R16L	ENST00000297161	NM_133468.4	16	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS5442.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCCGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000297161	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.34)	.	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Arg16Leu,ENST00000436222,;BMPER,missense_variant,p.Arg16Leu,ENST00000297161,;BMPER,missense_variant,p.Arg16Leu,ENST00000426693,;BMPER,missense_variant,p.Arg16Leu,ENST00000444773,;BMPER,missense_variant,p.Arg16Leu,ENST00000448280,;BMPER,non_coding_transcript_exon_variant,,ENST00000496609,;	421	47	65	SUCCESS
SHFM1	0	.	GRCh37	7	96324128	96324128	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	47	107	0	ENST00000248566.2:c.152A>T	p.Asp51Val	p.D51V	ENST00000248566	NM_006304.1	51	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS5646.1	152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTCATCC	NONE	.	.	Pfam_domain:PF05160,hmmpanther:PTHR16771:SF0,hmmpanther:PTHR16771,Low_complexity_(Seg):seg	.	.	ENSP00000248566	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000248566	Transcript	.	.	ENSG00000127922	10845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0)	.	DSS1_HUMAN	SHFM1	HGNC	Q6IBB7_HUMAN	.	UPI000000162C	SNV	SHFM1,missense_variant,p.Asp51Val,ENST00000444799,;SHFM1,missense_variant,p.Asp51Val,ENST00000248566,;SHFM1,missense_variant,p.Asp51Val,ENST00000417009,;SHFM1,missense_variant,p.Asp51Val,ENST00000413065,;SHFM1,non_coding_transcript_exon_variant,,ENST00000466986,;SHFM1,intron_variant,,ENST00000488005,;SHFM1,missense_variant,p.Asp51Val,ENST00000449279,;SHFM1,non_coding_transcript_exon_variant,,ENST00000482389,;	280	107	89	SUCCESS
TMEM74	157753	.	GRCh37	8	109796520	109796520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	13	218	0	ENST00000297459.3:c.808G>A	p.Glu270Lys	p.E270K	ENST00000297459	NM_153015.1	270	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6310.1	808	MUTECT|MUSE|VARSCANS	.	AGACTCTTTGG	NONE	.	.	hmmpanther:PTHR16125:SF3,hmmpanther:PTHR16125	.	.	ENSP00000297459	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297459	Transcript	.	.	ENSG00000164841	26409	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.433)	.	tolerated(0.23)	.	TMM74_HUMAN	TMEM74	HGNC	.	.	UPI000006E80B	SNV	TMEM74,missense_variant,p.Glu270Lys,ENST00000297459,;TMEM74,intron_variant,,ENST00000518838,;	987	218	136	SUCCESS
PLEC	5339	.	GRCh37	8	144991361	144991361	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199941693	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	82	0	ENST00000322810.4:c.13039G>A	p.Ala4347Thr	p.A4347T	ENST00000322810	NM_201380.2	4347	Gcc/Acc	0	T:0.0028	T:0.0076	.	T:0	.	T	A/T	protein_coding	YES	CCDS43772.1	13039	MUTECT|MUSE	.	CTTGGCGATGG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	T:0	T:0	ENSP00000323856	T:0	32/32	.	.	.	.	.	.	.	.	rs199941693	32/32	PASS	ENST00000322810	Transcript	1	T:0.0020	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.079)	T:0	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Ala4347Thr,ENST00000322810,;PLEC,missense_variant,p.Ala4233Thr,ENST00000527096,;PLEC,missense_variant,p.Ala4210Thr,ENST00000345136,;PLEC,missense_variant,p.Ala4214Thr,ENST00000357649,;PLEC,missense_variant,p.Ala4178Thr,ENST00000398774,;PLEC,missense_variant,p.Ala4210Thr,ENST00000354589,;PLEC,missense_variant,p.Ala4196Thr,ENST00000356346,;PLEC,missense_variant,p.Ala4237Thr,ENST00000436759,;PLEC,missense_variant,p.Ala4188Thr,ENST00000354958,;PLEC,downstream_gene_variant,,ENST00000527303,;	13209	82	53	SUCCESS
CSMD1	64478	.	GRCh37	8	2813254	2813254	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs534317062	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	39	131	0	ENST00000537824.1:c.9851C>G	p.Ala3284Gly	p.A3284G	ENST00000537824	NM_033225.5	3284	gCg/gGg	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS55189.1	9851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCGCGTGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	64/70	.	.	.	.	.	.	.	.	rs534317062	64/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ala3108Gly,ENST00000400186,;CSMD1,missense_variant,p.Ala3107Gly,ENST00000542608,;CSMD1,missense_variant,p.Ala3108Gly,ENST00000602723,;CSMD1,missense_variant,p.Ala2702Gly,ENST00000335551,;CSMD1,missense_variant,p.Ala3284Gly,ENST00000537824,;CSMD1,missense_variant,p.Ala3285Gly,ENST00000602557,;CSMD1,missense_variant,p.Ala3285Gly,ENST00000520002,;	9851	131	47	SUCCESS
GPR144	0	.	GRCh37	9	127231771	127231771	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	5	137	0	ENST00000334810.1:c.2503G>A	p.Ala835Thr	p.A835T	ENST00000334810	NM_001161808.1	835	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	2503	MUTECT|MUSE	.	GCCGTGCCCGC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF58,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000335156	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.06)	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	SNV	GPR144,missense_variant,p.Ala835Thr,ENST00000334810,;	2503	137	113	SUCCESS
ZER1	10444	.	GRCh37	9	131513803	131513803	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	59	0	ENST00000291900.2:c.927T>G	p.Ile309Met	p.I309M	ENST00000291900	NM_006336.3	309	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS6910.1	927	MUTECT|MUSE	.	GGCTCAATGCT	NONE	.	.	hmmpanther:PTHR12904:SF22,hmmpanther:PTHR12904	.	.	ENSP00000291900	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000291900	Transcript	.	.	ENSG00000160445	30960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.121)	.	tolerated(0.17)	.	ZER1_HUMAN	ZER1	HGNC	Q05BR7_HUMAN	.	UPI000013E085	SNV	ZER1,missense_variant,p.Ile309Met,ENST00000291900,;ZER1,downstream_gene_variant,,ENST00000427848,;ZER1,downstream_gene_variant,,ENST00000414921,;snoU13,downstream_gene_variant,,ENST00000459043,;ZER1,downstream_gene_variant,,ENST00000494461,;	1334	59	34	SUCCESS
C9orf172	0	.	GRCh37	9	139739752	139739752	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1415228809	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	44	94	0	ENST00000436881.1:c.886G>T	p.Ala296Ser	p.A296S	ENST00000436881	NM_001080482.2	296	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS48059.1	886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGCCAGT	NONE	.	.	hmmpanther:PTHR21517:SF2,hmmpanther:PTHR21517	.	.	ENSP00000412388	.	1/1	.	.	.	.	.	.	.	.	COSM3905854	1/1	PASS	ENST00000436881	Transcript	.	.	ENSG00000232434	37284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.019)	.	tolerated(0.83)	1	CI172_HUMAN	C9orf172	HGNC	.	.	UPI00015386B2	SNV	C9orf172,missense_variant,p.Ala296Ser,ENST00000436881,;RABL6,downstream_gene_variant,,ENST00000371663,;PHPT1,upstream_gene_variant,,ENST00000545326,;PHPT1,upstream_gene_variant,,ENST00000247665,;RABL6,downstream_gene_variant,,ENST00000371675,;PHPT1,upstream_gene_variant,,ENST00000371661,;RABL6,downstream_gene_variant,,ENST00000357466,;RABL6,downstream_gene_variant,,ENST00000311502,;PHPT1,upstream_gene_variant,,ENST00000497413,;PHPT1,upstream_gene_variant,,ENST00000463215,;PHPT1,upstream_gene_variant,,ENST00000462205,;PHPT1,upstream_gene_variant,,ENST00000492540,;RABL6,downstream_gene_variant,,ENST00000484471,;RABL6,downstream_gene_variant,,ENST00000464941,;	886	94	48	SUCCESS
RBMXL3	139804	.	GRCh37	X	114426238	114426238	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782462330	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	62	127	0	ENST00000424776.3:c.2234G>T	p.Gly745Val	p.G745V	ENST00000424776	NM_001145346.1	745	gGt/gTt	0	.	A:0.0008	.	A:0	.	T	G/V	protein_coding	YES	CCDS55478.1	2234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGTCGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	A:0	.	ENSP00000417451	A:0	1/1	.	.	.	.	.	.	.	.	rs782462330	1/1	PASS	ENST00000424776	Transcript	.	A:0.0003	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	A:0	deleterious_low_confidence(0)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Gly745Val,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	2276	127	71	SUCCESS
MSL3	10943	.	GRCh37	X	11790751	11790751	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	112	223	0	ENST00000312196.4:c.1393G>A	p.Glu465Lys	p.E465K	ENST00000312196	NM_078629.3	465	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14147.1	1393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGAAATC	NONE	.	.	Pfam_domain:PF05712,hmmpanther:PTHR10880:SF26,hmmpanther:PTHR10880,PROSITE_profiles:PS51640	.	.	ENSP00000312244	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000312196	Transcript	.	.	ENSG00000005302	7370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	MS3L1_HUMAN	MSL3	HGNC	F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN	.	UPI000006E6B7	SNV	MSL3,missense_variant,p.Glu299Lys,ENST00000380693,;MSL3,missense_variant,p.Glu453Lys,ENST00000398527,;MSL3,missense_variant,p.Glu465Lys,ENST00000312196,;MSL3,missense_variant,p.Glu316Lys,ENST00000361672,;MSL3,downstream_gene_variant,,ENST00000337339,;MSL3,downstream_gene_variant,,ENST00000467141,;MSL3,3_prime_UTR_variant,,ENST00000468149,;MSL3,downstream_gene_variant,,ENST00000473380,;MSL3,downstream_gene_variant,,ENST00000380691,;	1498	223	188	SUCCESS
ATXN3L	92552	.	GRCh37	X	13338283	13338283	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	48	91	0	ENST00000380622.2:c.-230T>A		p.*77*	ENST00000380622	NM_001135995.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48080.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAAAGTGA	NONE	.	.	.	.	.	ENSP00000369996	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380622	Transcript	.	.	ENSG00000123594	24173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATX3L_HUMAN	ATXN3L	HGNC	.	.	UPI00001C2065	SNV	ATXN3L,5_prime_UTR_variant,,ENST00000380622,;GS1-600G8.3,downstream_gene_variant,,ENST00000431486,;	236	91	77	SUCCESS
ATP2B3	492	.	GRCh37	X	152830535	152830535	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1227019809	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	148	308	2	ENST00000263519.4:c.3316C>T	p.Arg1106Trp	p.R1106W	ENST00000263519	NM_001001344.2	1106	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS35440.1	3316	RADIA|SOMATICSNIPER|VARSCANS	.	GGTTCCGGGGC	NONE	.	.	Pfam_domain:PF12424	.	.	ENSP00000263519	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000263519	Transcript	.	.	ENSG00000067842	816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,missense_variant,p.Arg1092Trp,ENST00000393842,;ATP2B3,missense_variant,p.Arg1106Trp,ENST00000263519,;ATP2B3,missense_variant,p.Arg1092Trp,ENST00000370181,;ATP2B3,missense_variant,p.Arg1106Trp,ENST00000359149,;ATP2B3,missense_variant,p.Arg1106Trp,ENST00000349466,;ATP2B3,missense_variant,p.Arg1092Trp,ENST00000370186,;ATP2B3,downstream_gene_variant,,ENST00000460549,;ATP2B3,upstream_gene_variant,,ENST00000496610,;	3442	310	171	SUCCESS
CXorf58	254158	.	GRCh37	X	23928463	23928463	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	190	360	0	ENST00000379211.3:c.44C>G	p.Ser15Ter	p.S15*	ENST00000379211	NM_001169574.1	15	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS14209.1	44	RADIA|MUTECT|MUSE	.	GAAATCAGGTA	NONE	.	.	.	.	.	ENSP00000368511	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000379211	Transcript	.	.	ENSG00000165182	26356	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CX058_HUMAN	CXorf58	HGNC	.	.	UPI00001AEC5F	SNV	CXorf58,stop_gained,p.Ser15Ter,ENST00000379211,;CXorf58,upstream_gene_variant,,ENST00000435707,;APOO,upstream_gene_variant,,ENST00000379226,;APOO,upstream_gene_variant,,ENST00000379220,;APOO,upstream_gene_variant,,ENST00000490078,;	593	360	350	SUCCESS
MAGED1	9500	.	GRCh37	X	51638488	51638488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	40	190	0	ENST00000326587.7:c.385T>C	p.Ser129Pro	p.S129P	ENST00000326587	NM_006986.3	129	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS35279.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTCCCAG	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF28	.	.	ENSP00000364847	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000375695	Transcript	.	.	ENSG00000179222	6813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	MAGD1_HUMAN	MAGED1	HGNC	.	.	UPI0000074161	SNV	MAGED1,missense_variant,p.Ser129Pro,ENST00000326587,;MAGED1,missense_variant,p.Ser129Pro,ENST00000375722,;MAGED1,missense_variant,p.Ser185Pro,ENST00000375695,;MAGED1,missense_variant,p.Ser129Pro,ENST00000375772,;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,non_coding_transcript_exon_variant,,ENST00000482188,;MAGED1,non_coding_transcript_exon_variant,,ENST00000470461,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,upstream_gene_variant,,ENST00000482599,;	706	190	170	SUCCESS
PHF8	23133	.	GRCh37	X	54013589	54013589	+	synonymous_variant	Silent	SNP	G	G	A	rs148356929	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	80	162	0	ENST00000357988.5:c.2025C>T	p.Pro675=	p.P675=	ENST00000357988	NM_001184896.1	675	ccC/ccT	0	C:0	.	.	.	.	A	P	protein_coding	YES	CCDS55420.1	2025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGGGGAAA	NONE	byCluster	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11	.	C:0.0001	ENSP00000350676	.	16/22	.	.	.	.	.	.	.	.	rs148356929	16/22	PASS	ENST00000357988	Transcript	.	.	ENSG00000172943	20672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF8_HUMAN	PHF8	HGNC	Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN	.	UPI00001C2071	SNV	PHF8,synonymous_variant,p.%3D,ENST00000443302,;PHF8,synonymous_variant,p.%3D,ENST00000396282,;PHF8,synonymous_variant,p.%3D,ENST00000322659,;PHF8,synonymous_variant,p.%3D,ENST00000357988,;PHF8,synonymous_variant,p.%3D,ENST00000338154,;PHF8,synonymous_variant,p.%3D,ENST00000338946,;PHF8,downstream_gene_variant,,ENST00000494928,;	2384	163	142	SUCCESS
AR	367	.	GRCh37	X	66765551	66765551	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	53	148	0	ENST00000374690.3:c.563C>A	p.Ala188Asp	p.A188D	ENST00000374690	NM_000044.3	188	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS14387.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCCAGCA	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084,Pfam_domain:PF02166,Prints_domain:PR00521	.	.	ENSP00000363822	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.635)	.	deleterious_low_confidence(0)	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	SNV	AR,missense_variant,p.Ala188Asp,ENST00000504326,;AR,missense_variant,p.Ala188Asp,ENST00000396044,;AR,missense_variant,p.Ala188Asp,ENST00000374690,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,missense_variant,p.Ala188Asp,ENST00000514029,;	1087	148	163	SUCCESS
AR	367	.	GRCh37	X	66765552	66765552	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	53	150	0	ENST00000374690.3:c.564C>A	p.Ala188=	p.A188=	ENST00000374690	NM_000044.3	188	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14387.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCAGCAC	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084,Pfam_domain:PF02166,Prints_domain:PR00521	.	.	ENSP00000363822	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	SNV	AR,synonymous_variant,p.%3D,ENST00000504326,;AR,synonymous_variant,p.%3D,ENST00000396044,;AR,synonymous_variant,p.%3D,ENST00000374690,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,synonymous_variant,p.%3D,ENST00000514029,;	1088	150	162	SUCCESS
MED12	9968	.	GRCh37	X	70356173	70356173	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	178	346	1	ENST00000374080.3:c.5068C>G	p.Leu1690Val	p.L1690V	ENST00000374080		1690	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43970.1	5068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATCTTTTT	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4	.	.	ENSP00000363193	.	37/45	.	.	.	.	.	.	.	.	.	37/45	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	SNV	MED12,missense_variant,p.Leu1690Val,ENST00000374102,;MED12,missense_variant,p.Leu1690Val,ENST00000333646,;MED12,missense_variant,p.Leu1690Val,ENST00000374080,;MED12,upstream_gene_variant,,ENST00000444034,;AL590764.1,upstream_gene_variant,,ENST00000579622,;	5100	347	317	SUCCESS
TAF1	6872	.	GRCh37	X	70598216	70598216	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	52	239	0	ENST00000373790.4:c.1062T>A	p.Gly354=	p.G354=	ENST00000373790	NM_004606.3	354	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS14412.1	1125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTGTCCC	NONE	.	.	hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	7/38	.	.	.	.	.	.	.	.	.	7/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,synonymous_variant,p.%3D,ENST00000373790,;TAF1,synonymous_variant,p.%3D,ENST00000449580,;TAF1,synonymous_variant,p.%3D,ENST00000276072,;TAF1,synonymous_variant,p.%3D,ENST00000423759,;TAF1,downstream_gene_variant,,ENST00000483365,;	1135	239	209	SUCCESS
TAF5	6877	.	GRCh37	10	105139385	105139385	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	63	343	0	ENST00000369839.3:c.1134A>T	p.Lys378Asn	p.K378N	ENST00000369839	NM_006951.3	378	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7547.1	1134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAGAACC	NONE	.	.	hmmpanther:PTHR19879	.	.	ENSP00000358854	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000369839	Transcript	.	.	ENSG00000148835	11539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.02)	.	TAF5_HUMAN	TAF5	HGNC	.	.	UPI000013DB5B	SNV	TAF5,missense_variant,p.Lys378Asn,ENST00000351396,;TAF5,missense_variant,p.Lys378Asn,ENST00000369839,;	1157	343	256	SUCCESS
VIM	7431	.	GRCh37	10	17275583	17275583	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	115	0	ENST00000224237.5:c.625-3T>A		p.X209_splice	ENST00000224237		209		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7120.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATAGGAT	NONE	.	.	.	.	.	ENSP00000446007	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	LOW	3/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,splice_region_variant,,ENST00000224237,;VIM,splice_region_variant,,ENST00000421459,;VIM,splice_region_variant,,ENST00000544301,;RP11-124N14.3,non_coding_transcript_exon_variant,,ENST00000456355,;VIM-AS1,upstream_gene_variant,,ENST00000605833,;VIM,non_coding_transcript_exon_variant,,ENST00000495528,;VIM,downstream_gene_variant,,ENST00000485947,;VIM,downstream_gene_variant,,ENST00000478746,;VIM,downstream_gene_variant,,ENST00000478317,;VIM,downstream_gene_variant,,ENST00000497849,;VIM,splice_region_variant,,ENST00000469543,;VIM,splice_region_variant,,ENST00000487938,;	.	115	78	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72432599	72432599	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1372074475	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	75	0	ENST00000373207.1:c.41T>G	p.Leu14Trp	p.L14W	ENST00000373207	NM_080722.3	14	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS7307.1	41	MUTECT|MUSE|VARSCANS	.	GCCTTTGCACT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723	.	.	ENSP00000362304	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated(0.13)	.	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,missense_variant,p.Leu14Trp,ENST00000373208,;ADAMTS14,missense_variant,p.Leu14Trp,ENST00000373207,;	41	75	60	SUCCESS
ITIH5	80760	.	GRCh37	10	7679256	7679256	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1221205644	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	30	0	ENST00000256861.6:c.587G>C	p.Gly196Ala	p.G196A	ENST00000256861	NM_030569.6	196	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	.	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGCCCGCG	BUFFER|p.A195V|c.584C>T|4,BUFFER|p.A195V|c.584C>T|3	.	.	hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338	.	.	ENSP00000256861	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.359)	.	tolerated(0.14)	.	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Gly196Ala,ENST00000397146,;ITIH5,missense_variant,p.Gly196Ala,ENST00000397145,;ITIH5,missense_variant,p.Gly196Ala,ENST00000256861,;ITIH5,5_prime_UTR_variant,,ENST00000446830,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;	666	30	37	SUCCESS
WAPAL	0	.	GRCh37	10	88259625	88259625	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	17	126	0	ENST00000298767.5:c.1375A>C	p.Ser459Arg	p.S459R	ENST00000298767	NM_015045.2	459	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS7375.1	1375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTGAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100	.	.	ENSP00000298767	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious_low_confidence(0)	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,missense_variant,p.Ser459Arg,ENST00000298767,;	1848	126	105	SUCCESS
USP2	9099	.	GRCh37	11	119244001	119244001	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766423865	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	34	75	1	ENST00000260187.2:c.190C>A	p.Arg64Ser	p.R64S	ENST00000260187	NM_004205.4	64	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS8422.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACGGGGAC	NONE	byFrequency	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396	.	.	ENSP00000260187	.	2/13	.	.	.	.	.	.	.	.	rs766423865	2/13	PASS	ENST00000260187	Transcript	.	.	ENSG00000036672	12618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.04)	.	UBP2_HUMAN	USP2	HGNC	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN	.	UPI00001379D8	SNV	USP2,missense_variant,p.Arg64Ser,ENST00000527843,;USP2,missense_variant,p.Arg64Ser,ENST00000531070,;USP2,missense_variant,p.Arg64Ser,ENST00000260187,;USP2,intron_variant,,ENST00000455332,;RP11-334E6.3,non_coding_transcript_exon_variant,,ENST00000530918,;	485	76	44	SUCCESS
MUC5B	727897	.	GRCh37	11	1269383	1269383	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765539013	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	90	0	ENST00000529681.1:c.11273C>T	p.Thr3758Met	p.T3758M	ENST00000529681	NM_002458.2	3758	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS44515.2	11273	RADIA|SOMATICSNIPER|VARSCANS	.	GGCCACGACAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	rs765539013	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Thr3758Met,ENST00000529681,;MUC5B,missense_variant,p.Thr3761Met,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	11331	90	35	SUCCESS
PRDM10	56980	.	GRCh37	11	129827684	129827684	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	27	72	0	ENST00000358825.5:c.191C>T	p.Pro64Leu	p.P64L	ENST00000358825	NM_020228.2	64	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS44771.1	191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGGACCA	NONE	.	.	hmmpanther:PTHR11389:SF415,hmmpanther:PTHR11389	.	.	ENSP00000351686	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000358825	Transcript	.	.	ENSG00000170325	13995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious_low_confidence(0.01)	.	PRD10_HUMAN	PRDM10	HGNC	.	.	UPI00002371B3	SNV	PRDM10,missense_variant,p.Pro64Leu,ENST00000360871,;PRDM10,missense_variant,p.Pro64Leu,ENST00000527581,;PRDM10,missense_variant,p.Pro64Leu,ENST00000528746,;PRDM10,missense_variant,p.Pro64Leu,ENST00000358825,;PRDM10,missense_variant,p.Pro64Leu,ENST00000531431,;	423	72	34	SUCCESS
SPON1	10418	.	GRCh37	11	14096928	14096928	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs976146655	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	35	0	ENST00000310358.7:n.1054A>G		p.*352*	ENST00000310358				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAAGATGA	NONE	.	.	.	.	.	.	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000310358	Transcript	.	.	ENSG00000152268	11252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPON1	HGNC	.	.	.	SNV	SPON1,non_coding_transcript_exon_variant,,ENST00000533633,;SPON1,non_coding_transcript_exon_variant,,ENST00000310358,;	1054	35	36	SUCCESS
PLEKHA7	144100	.	GRCh37	11	16863174	16863174	+	synonymous_variant	Silent	SNP	G	G	A	rs778071325	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	62	0	ENST00000355661.3:c.792C>T	p.Ala264=	p.A264=	ENST00000355661		264	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31434.1	792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGGCACT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752,PROSITE_profiles:PS50003	.	.	ENSP00000347883	.	9/23	.	.	.	.	.	.	.	.	rs778071325	9/23	PASS	ENST00000355661	Transcript	.	.	ENSG00000166689	27049	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA7_HUMAN	PLEKHA7	HGNC	E9PL74_HUMAN,E9PIK1_HUMAN	.	UPI0000456498	SNV	PLEKHA7,synonymous_variant,p.%3D,ENST00000448080,;PLEKHA7,synonymous_variant,p.%3D,ENST00000531066,;PLEKHA7,synonymous_variant,p.%3D,ENST00000355661,;PLEKHA7,intron_variant,,ENST00000532079,;RN7SKP90,upstream_gene_variant,,ENST00000363013,;	803	62	68	SUCCESS
SIRT3	23410	.	GRCh37	11	219012	219012	+	synonymous_variant	Silent	SNP	G	G	A	rs376721867	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	102	0	ENST00000382743.4:c.999C>T	p.Ala333=	p.A333=	ENST00000382743	NM_012239.5	333	gcC/gcT	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS7691.1	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACGGCCTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50305,hmmpanther:PTHR11085:SF14,hmmpanther:PTHR11085,Gene3D:3.40.50.1220,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467	.	A:0.0001	ENSP00000372191	.	6/7	.	.	.	.	.	.	.	.	rs376721867	6/7	PASS	ENST00000382743	Transcript	.	.	ENSG00000142082	14931	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIR3_HUMAN	SIRT3	HGNC	E9PNA0_HUMAN,E9PM52_HUMAN	.	UPI0000073D3C	SNV	SIRT3,synonymous_variant,p.%3D,ENST00000532956,;SIRT3,synonymous_variant,p.%3D,ENST00000525319,;SIRT3,synonymous_variant,p.%3D,ENST00000524564,;SIRT3,synonymous_variant,p.%3D,ENST00000529382,;SIRT3,synonymous_variant,p.%3D,ENST00000382743,;RIC8A,downstream_gene_variant,,ENST00000527696,;RIC8A,downstream_gene_variant,,ENST00000526104,;RIC8A,downstream_gene_variant,,ENST00000524854,;RIC8A,downstream_gene_variant,,ENST00000325207,;RIC8A,downstream_gene_variant,,ENST00000529275,;RIC8A,downstream_gene_variant,,ENST00000531541,;SIRT3,3_prime_UTR_variant,,ENST00000529937,;SIRT3,3_prime_UTR_variant,,ENST00000532837,;RIC8A,downstream_gene_variant,,ENST00000526557,;	1102	102	81	SUCCESS
ACCS	84680	.	GRCh37	11	44089305	44089305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	102	0	ENST00000263776.8:c.128A>T	p.Lys43Met	p.K43M	ENST00000263776	NM_032592.3	43	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS7907.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAAGCTGC	NONE	.	.	.	.	.	ENSP00000263776	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000263776	Transcript	.	.	ENSG00000110455	23989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	tolerated(0.05)	.	1A1L1_HUMAN	ACCS	HGNC	E9PS61_HUMAN,E9PRT9_HUMAN	.	UPI000006D45A	SNV	ACCS,missense_variant,p.Lys43Met,ENST00000524990,;ACCS,missense_variant,p.Lys43Met,ENST00000432284,;ACCS,missense_variant,p.Lys43Met,ENST00000533404,;ACCS,missense_variant,p.Lys43Met,ENST00000263776,;CTD-2609K8.3,upstream_gene_variant,,ENST00000531268,;ACCS,non_coding_transcript_exon_variant,,ENST00000533208,;ACCS,non_coding_transcript_exon_variant,,ENST00000526577,;ACCS,non_coding_transcript_exon_variant,,ENST00000527603,;	562	102	74	SUCCESS
OR51V1	283111	.	GRCh37	11	5221636	5221636	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs558002486	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	113	0	ENST00000321255.1:c.295C>T	p.Arg99Ter	p.R99*	ENST00000321255	NM_001004760.2	99	Cga/Tga	0	.	A:0	.	A:0	.	A	R/*	protein_coding	YES	CCDS31375.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGAATGA	NONE	by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF67,hmmpanther:PTHR26450,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	.	ENSP00000321729	A:0	1/1	.	.	.	.	.	.	.	.	rs558002486	1/1	PASS	ENST00000321255	Transcript	.	A:0.0002	ENSG00000176742	19597	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	O51V1_HUMAN	OR51V1	HGNC	.	.	UPI0000140ADA	SNV	OR51V1,stop_gained,p.Arg99Ter,ENST00000321255,;AC104389.16,upstream_gene_variant,,ENST00000418080,;	295	113	96	SUCCESS
LPXN	9404	.	GRCh37	11	58318615	58318615	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	81	0	ENST00000395074.2:c.409C>T	p.Gln137Ter	p.Q137*	ENST00000395074	NM_004811.2	137	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS53635.1	424	RADIA|MUTECT|MUSE	.	TTCCTGCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24216:SF23,hmmpanther:PTHR24216,PIRSF_domain:PIRSF037881	.	.	ENSP00000431284	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000528954	Transcript	.	.	ENSG00000110031	14061	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPXN_HUMAN	LPXN	HGNC	.	.	UPI00001FA7B3	SNV	LPXN,stop_gained,p.Gln117Ter,ENST00000528489,;LPXN,stop_gained,p.Gln142Ter,ENST00000528954,;LPXN,stop_gained,p.Gln137Ter,ENST00000395074,;LPXN,3_prime_UTR_variant,,ENST00000530561,;LPXN,downstream_gene_variant,,ENST00000529915,;	544	81	93	SUCCESS
ZP1	22917	.	GRCh37	11	60641131	60641131	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	98	0	ENST00000278853.5:c.1455C>A	p.Tyr485Ter	p.Y485*	ENST00000278853	NM_207341.2	485	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS31572.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTACAGAAC	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343:SF41,hmmpanther:PTHR23343,PROSITE_profiles:PS51034	.	.	ENSP00000278853	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000278853	Transcript	.	.	ENSG00000149506	13187	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZP1_HUMAN	ZP1	HGNC	.	.	UPI0000351AA0	SNV	ZP1,stop_gained,p.Tyr485Ter,ENST00000278853,;ZP1,non_coding_transcript_exon_variant,,ENST00000543020,;ZP1,non_coding_transcript_exon_variant,,ENST00000537203,;ZP1,downstream_gene_variant,,ENST00000542971,;ZP1,downstream_gene_variant,,ENST00000540908,;	1455	98	85	SUCCESS
C11orf95	0	.	GRCh37	11	63533563	63533563	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	70	0	ENST00000433688.1:n.372A>G		p.*124*	ENST00000433688				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTTGAAG	NONE	.	.	.	.	.	.	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000433688	Transcript	.	.	ENSG00000188070	28449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C11orf95	HGNC	.	.	.	SNV	C11orf95,non_coding_transcript_exon_variant,,ENST00000445014,;C11orf95,non_coding_transcript_exon_variant,,ENST00000433688,;C11orf95,upstream_gene_variant,,ENST00000458348,;C11orf95,upstream_gene_variant,,ENST00000338498,;RP11-466C23.4,downstream_gene_variant,,ENST00000546282,;	372	70	56	SUCCESS
TM7SF2	7108	.	GRCh37	11	64879378	64879378	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	84	0	ENST00000279263.7:c.-110G>T		p.*37*	ENST00000279263	NM_003273.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41669.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCGGGG	NONE	.	.	.	.	.	ENSP00000279263	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000279263	Transcript	.	.	ENSG00000149809	11863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERG24_HUMAN	TM7SF2	HGNC	F5GYV3_HUMAN,E9PRQ1_HUMAN,E9PLI3_HUMAN	.	UPI000013DBC4	SNV	TM7SF2,5_prime_UTR_variant,,ENST00000279263,;TM7SF2,5_prime_UTR_variant,,ENST00000526085,;TM7SF2,5_prime_UTR_variant,,ENST00000345348,;TM7SF2,5_prime_UTR_variant,,ENST00000531321,;TM7SF2,5_prime_UTR_variant,,ENST00000534371,;TM7SF2,5_prime_UTR_variant,,ENST00000525385,;TM7SF2,5_prime_UTR_variant,,ENST00000529414,;TM7SF2,5_prime_UTR_variant,,ENST00000526809,;TM7SF2,5_prime_UTR_variant,,ENST00000540748,;TM7SF2,intron_variant,,ENST00000524986,;TM7SF2,upstream_gene_variant,,ENST00000530750,;ZNHIT2,downstream_gene_variant,,ENST00000310597,;VPS51,downstream_gene_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000527968,;TM7SF2,upstream_gene_variant,,ENST00000528802,;VPS51,downstream_gene_variant,,ENST00000279281,;VPS51,downstream_gene_variant,,ENST00000530773,;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000526578,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000528588,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.9,upstream_gene_variant,,ENST00000528887,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,5_prime_UTR_variant,,ENST00000529601,;TM7SF2,5_prime_UTR_variant,,ENST00000529292,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533766,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000528026,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530650,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000532328,;TM7SF2,upstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;TM7SF2,upstream_gene_variant,,ENST00000527851,;VPS51,downstream_gene_variant,,ENST00000534124,;TM7SF2,upstream_gene_variant,,ENST00000524690,;VPS51,downstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000530892,;VPS51,downstream_gene_variant,,ENST00000533656,;VPS51,downstream_gene_variant,,ENST00000533487,;VPS51,downstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000534667,;	53	84	57	SUCCESS
ZNF215	7762	.	GRCh37	11	6977365	6977365	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	73	0	ENST00000278319.5:c.1157A>G	p.Lys386Arg	p.K386R	ENST00000278319	NM_013250.2	386	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7775.1	1157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAAAGCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000278319	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000278319	Transcript	.	.	ENSG00000149054	13007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.11)	.	ZN215_HUMAN	ZNF215	HGNC	.	.	UPI000013DB6D	SNV	ZNF215,missense_variant,p.Lys386Arg,ENST00000414517,;ZNF215,missense_variant,p.Lys386Arg,ENST00000278319,;ZNF215,intron_variant,,ENST00000529903,;ZNF215,intron_variant,,ENST00000532533,;ZNF215,downstream_gene_variant,,ENST00000529755,;ZNF215,downstream_gene_variant,,ENST00000527171,;	1745	73	66	SUCCESS
ANO1	55107	.	GRCh37	11	69949238	69949238	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	26	161	0	ENST00000355303.5:c.508G>T	p.Glu170Ter	p.E170*	ENST00000355303	NM_018043.5	170	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS44663.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGAGTTT	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13	.	.	ENSP00000347454	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000355303	Transcript	.	.	ENSG00000131620	21625	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO1_HUMAN	ANO1	HGNC	.	.	UPI000013CE03	SNV	ANO1,stop_gained,p.Glu13Ter,ENST00000530480,;ANO1,stop_gained,p.Glu142Ter,ENST00000316296,;ANO1,stop_gained,p.Glu54Ter,ENST00000398543,;ANO1,stop_gained,p.Glu170Ter,ENST00000355303,;ANO1,stop_gained,p.Glu170Ter,ENST00000538023,;ANO1,stop_gained,p.Glu54Ter,ENST00000530676,;ANO1,intron_variant,,ENST00000531604,;ANO1,upstream_gene_variant,,ENST00000529913,;	813	161	127	SUCCESS
PRDM4	11108	.	GRCh37	12	108150646	108150646	+	synonymous_variant	Silent	SNP	C	C	T	rs370718612	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	57	0	ENST00000228437.5:c.108G>A	p.Leu36=	p.L36=	ENST00000228437	NM_012406.3	36	ttG/ttA	0	T:0.0002	T:0.0008	.	T:0	.	T	L	protein_coding	YES	CCDS9115.1	108	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCAATCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF112,PIRSF_domain:PIRSF037161	T:0	T:0	ENSP00000228437	T:0	3/12	.	.	.	.	.	.	.	.	rs370718612	3/12	PASS	ENST00000228437	Transcript	.	T:0.0002	ENSG00000110851	9348	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	PRDM4_HUMAN	PRDM4	HGNC	F8VRG2_HUMAN	.	UPI000013217D	SNV	PRDM4,synonymous_variant,p.%3D,ENST00000547188,;PRDM4,synonymous_variant,p.%3D,ENST00000228437,;RP11-864J10.4,intron_variant,,ENST00000546714,;PRDM4,non_coding_transcript_exon_variant,,ENST00000547268,;PRDM4,synonymous_variant,p.%3D,ENST00000550376,;	568	57	23	SUCCESS
ATP2A2	488	.	GRCh37	12	110765661	110765661	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	16	84	0	ENST00000539276.2:c.934C>T	p.Pro312Ser	p.P312S	ENST00000539276		312	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9144.1	934	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGCCTGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF234,hmmpanther:PTHR24093,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01116,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473	.	.	ENSP00000440045	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000539276	Transcript	.	.	ENSG00000174437	812	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.817)	.	deleterious(0.03)	.	AT2A2_HUMAN	ATP2A2	HGNC	.	.	UPI0000001C3A	SNV	ATP2A2,missense_variant,p.Pro285Ser,ENST00000395494,;ATP2A2,missense_variant,p.Pro203Ser,ENST00000548169,;ATP2A2,missense_variant,p.Pro312Ser,ENST00000308664,;ATP2A2,missense_variant,p.Pro312Ser,ENST00000539276,;ATP2A2,non_coding_transcript_exon_variant,,ENST00000549840,;ATP2A2,downstream_gene_variant,,ENST00000550248,;ATP2A2,3_prime_UTR_variant,,ENST00000377685,;ATP2A2,non_coding_transcript_exon_variant,,ENST00000547050,;ATP2A2,upstream_gene_variant,,ENST00000550262,;	1043	84	106	SUCCESS
HECTD4	283450	.	GRCh37	12	112681775	112681775	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777014921	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	46	192	0	ENST00000550722.1:c.4114G>A	p.Ala1372Thr	p.A1372T	ENST00000550722	NM_001109662.3	1372	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	4114	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCGTGAG	NONE	.	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	30/76	.	.	.	.	.	.	.	.	rs777014921	30/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.131)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Ala1096Thr,ENST00000430131,;HECTD4,missense_variant,p.Ala1372Thr,ENST00000550722,;HECTD4,missense_variant,p.Ala1346Thr,ENST00000377560,;	4510	192	233	SUCCESS
TBX3	6926	.	GRCh37	12	115109713	115109713	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	99	0	ENST00000257566.3:c.2165A>T	p.Gln722Leu	p.Q722L	ENST00000257566	NM_016569.3	722	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9176.1	2165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCTGCAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91	.	.	ENSP00000257566	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000257566	Transcript	.	.	ENSG00000135111	11602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TBX3_HUMAN	TBX3	HGNC	.	.	UPI0000136AA0	SNV	TBX3,missense_variant,p.Gln702Leu,ENST00000349155,;TBX3,missense_variant,p.Gln722Leu,ENST00000257566,;	2555	99	84	SUCCESS
NCOR2	9612	.	GRCh37	12	124831161	124831161	+	synonymous_variant	Silent	SNP	C	C	T	rs779461576	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	77	0	ENST00000405201.1:c.4308G>A	p.Thr1436=	p.T1436=	ENST00000405201		1436	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41858.2	4308	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGCGTGTG	NONE	byFrequency	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	31/47	.	.	.	.	.	.	.	.	rs779461576	31/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,synonymous_variant,p.%3D,ENST00000356219,;NCOR2,synonymous_variant,p.%3D,ENST00000458234,;NCOR2,synonymous_variant,p.%3D,ENST00000404121,;NCOR2,synonymous_variant,p.%3D,ENST00000429285,;NCOR2,synonymous_variant,p.%3D,ENST00000405201,;NCOR2,synonymous_variant,p.%3D,ENST00000404621,;NCOR2,synonymous_variant,p.%3D,ENST00000397355,;NCOR2,upstream_gene_variant,,ENST00000453428,;NCOR2,upstream_gene_variant,,ENST00000440187,;NCOR2,downstream_gene_variant,,ENST00000473999,;	4309	78	79	SUCCESS
TULP3	7289	.	GRCh37	12	3000079	3000079	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	136	0	ENST00000448120.2:c.-35G>A		p.*12*	ENST00000448120	NM_003324.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53737.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGTGTGT	NONE	.	.	.	.	.	ENSP00000380321	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000397132	Transcript	.	.	ENSG00000078246	12425	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TULP3	HGNC	F8WBZ9_HUMAN,F5H7B9_HUMAN	.	UPI00001FBDC0	SNV	TULP3,5_prime_UTR_variant,,ENST00000397132,;TULP3,5_prime_UTR_variant,,ENST00000544943,;TULP3,5_prime_UTR_variant,,ENST00000448120,;RHNO1,downstream_gene_variant,,ENST00000461997,;RHNO1,downstream_gene_variant,,ENST00000366285,;RHNO1,downstream_gene_variant,,ENST00000538700,;RHNO1,downstream_gene_variant,,ENST00000538636,;RHNO1,downstream_gene_variant,,ENST00000489288,;RHNO1,downstream_gene_variant,,ENST00000536063,;RHNO1,downstream_gene_variant,,ENST00000464682,;TULP3,5_prime_UTR_variant,,ENST00000538354,;TULP3,5_prime_UTR_variant,,ENST00000545331,;TULP3,intron_variant,,ENST00000540184,;RHNO1,downstream_gene_variant,,ENST00000535978,;	7	136	88	SUCCESS
PDZRN4	29951	.	GRCh37	12	41831572	41831572	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	13	0	ENST00000402685.2:c.844-68686C>A		p.*282*	ENST00000402685	NM_001164595.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCTGCTA	NONE	.	.	.	.	.	ENSP00000384197	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,5_prime_UTR_variant,,ENST00000298919,;PDZRN4,5_prime_UTR_variant,,ENST00000539469,;PDZRN4,intron_variant,,ENST00000402685,;RP11-413B19.2,intron_variant,,ENST00000547168,;	.	13	15	SUCCESS
OS9	10956	.	GRCh37	12	58087962	58087962	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	120	0	ENST00000315970.7:c.18G>T	p.Leu6=	p.L6=	ENST00000315970	NM_006812.3	6	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31843.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTGCTGTC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1	.	.	ENSP00000318165	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000315970	Transcript	.	.	ENSG00000135506	16994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OS9_HUMAN	OS9	HGNC	Q9BR60_HUMAN	.	UPI0000130EAC	SNV	OS9,synonymous_variant,p.%3D,ENST00000413095,;OS9,synonymous_variant,p.%3D,ENST00000257966,;OS9,synonymous_variant,p.%3D,ENST00000435406,;OS9,synonymous_variant,p.%3D,ENST00000551035,;OS9,synonymous_variant,p.%3D,ENST00000315970,;OS9,synonymous_variant,p.%3D,ENST00000552285,;OS9,synonymous_variant,p.%3D,ENST00000389142,;OS9,synonymous_variant,p.%3D,ENST00000389146,;OS9,synonymous_variant,p.%3D,ENST00000550372,;OS9,synonymous_variant,p.%3D,ENST00000547079,;OS9,synonymous_variant,p.%3D,ENST00000439210,;RP11-571M6.7,non_coding_transcript_exon_variant,,ENST00000549477,;OS9,synonymous_variant,p.%3D,ENST00000550848,;OS9,synonymous_variant,p.%3D,ENST00000552787,;OS9,synonymous_variant,p.%3D,ENST00000552423,;OS9,synonymous_variant,p.%3D,ENST00000551285,;OS9,non_coding_transcript_exon_variant,,ENST00000549897,;OS9,non_coding_transcript_exon_variant,,ENST00000550793,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,upstream_gene_variant,,ENST00000549307,;	59	120	87	SUCCESS
IRAK3	11213	.	GRCh37	12	66638955	66638955	+	synonymous_variant	Silent	SNP	C	C	G	rs367771929	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	134	0	ENST00000261233.4:c.1227C>G	p.Pro409=	p.P409=	ENST00000261233	NM_007199.2	409	ccC/ccG	0	T:0	.	.	.	.	G	P	protein_coding	YES	CCDS8975.1	1227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCTGCCC	BUFFER|p.R412Q|c.1235G>A|3	byCluster	.	Superfamily_domains:SSF56112,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7,PROSITE_profiles:PS50011	.	T:0.0001	ENSP00000261233	.	11/12	.	.	.	.	.	.	.	.	rs367771929,COSM3710965	11/12	PASS	ENST00000261233	Transcript	.	.	ENSG00000090376	17020	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	IRAK3_HUMAN	IRAK3	HGNC	.	.	UPI000013D14A	SNV	IRAK3,synonymous_variant,p.%3D,ENST00000261233,;IRAK3,synonymous_variant,p.%3D,ENST00000457197,;	1648	134	82	SUCCESS
LUM	4060	.	GRCh37	12	91502117	91502117	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs375444776	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	37	104	0	ENST00000266718.4:c.640A>T	p.Asn214Tyr	p.N214Y	ENST00000266718	NM_002345.3	214	Aac/Tac	0	C:0	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9038.1	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTTGTCTA	NONE	byCluster	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF54,hmmpanther:PTHR24371,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058	.	C:0.0001	ENSP00000266718	.	2/3	.	.	.	.	.	.	.	.	rs375444776	2/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,missense_variant,p.Asn214Tyr,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;LUM,intron_variant,,ENST00000548071,;	1095	104	71	SUCCESS
LINC00283	0	.	GRCh37	13	103395550	103395550	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	85	0	ENST00000430111.1:n.211G>T		p.*71*	ENST00000430111				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|MUSE	.	AAGTTGGAAGT	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000430111	Transcript	.	.	ENSG00000231633	38809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LINC00283	HGNC	.	.	.	SNV	LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,;	211	85	56	SUCCESS
ADPRHL1	113622	.	GRCh37	13	114083321	114083321	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375108772	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	57	0	ENST00000375418.3:c.592C>T	p.Arg198Trp	p.R198W	ENST00000375418	NM_138430.3	198	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS9535.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGCAGCA	NONE	byFrequency|byCluster	.	Pfam_domain:PF03747,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888	.	A:0.0001	ENSP00000364567	.	4/7	.	.	.	.	.	.	.	.	rs375108772,COSM945598	4/7	PASS	ENST00000375418	Transcript	.	.	ENSG00000153531	21303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.773)	.	tolerated(0.06)	0,1	ARHL1_HUMAN	ADPRHL1	HGNC	.	.	UPI000004A1F3	SNV	ADPRHL1,missense_variant,p.Arg198Trp,ENST00000375418,;ADPRHL1,missense_variant,p.Arg116Trp,ENST00000356501,;ADPRHL1,missense_variant,p.Arg116Trp,ENST00000413169,;	679	57	21	SUCCESS
DACH1	1602	.	GRCh37	13	72063270	72063270	+	synonymous_variant	Silent	SNP	C	C	T	rs370706409	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	65	0	ENST00000305425.4:c.1587G>A	p.Pro529=	p.P529=	ENST00000305425	NM_080759.4	529	ccG/ccA	0	T:0.0003	.	.	.	.	T	P	protein_coding	YES	CCDS41899.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGCGGGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577	.	T:0.0001	ENSP00000304994	.	7/11	.	.	.	.	.	.	.	.	rs370706409	7/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,synonymous_variant,p.%3D,ENST00000305425,;DACH1,synonymous_variant,p.%3D,ENST00000313174,;DACH1,synonymous_variant,p.%3D,ENST00000354591,;DACH1,synonymous_variant,p.%3D,ENST00000359684,;	2010	65	28	SUCCESS
MYCBP2	23077	.	GRCh37	13	77700507	77700507	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	28	125	0	ENST00000357337.6:c.7716A>T	p.Arg2572Ser	p.R2572S	ENST00000357337		2572	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	.	7716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCTCTAAG	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	53/83	.	.	.	.	.	.	.	.	.	53/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Arg2572Ser,ENST00000357337,;MYCBP2,missense_variant,p.Arg2572Ser,ENST00000544440,;MYCBP2,missense_variant,p.Arg35Ser,ENST00000360084,;MYCBP2,missense_variant,p.Arg2610Ser,ENST00000407578,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000498073,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000482517,;MYCBP2,upstream_gene_variant,,ENST00000466564,;	7734	125	47	SUCCESS
KIF26A	26153	.	GRCh37	14	104641670	104641670	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	27	108	0	ENST00000423312.2:c.2545G>A	p.Glu849Lys	p.E849K	ENST00000423312	NM_015656.1	849	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45171.1	2545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGAATGC	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0.01)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Glu710Lys,ENST00000315264,;KIF26A,missense_variant,p.Glu849Lys,ENST00000423312,;	2545	108	36	SUCCESS
IGHV3-21	28444	.	GRCh37	14	106692202	106692202	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs545215634	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	22	56	0	ENST00000390607.2:c.-78G>T		p.*26*	ENST00000390607				0	.	T:0.0015	.	T:0	.	A	.	IG_V_gene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCTGCAG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000375016	T:0	1/2	.	.	.	.	.	.	.	.	rs545215634	1/2	PASS	ENST00000390607	Transcript	1	T:0.0004	ENSG00000211947	5586	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	IGHV3-21	HGNC	.	.	UPI000011AAD7	SNV	IGHV3-21,5_prime_UTR_variant,,ENST00000390607,;	2	56	33	SUCCESS
FLRT2	23768	.	GRCh37	14	86087999	86087999	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	25	75	0	ENST00000330753.4:c.141C>A	p.Val47=	p.V47=	ENST00000330753	NM_013231.4	47	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9877.1	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTCTACTG	NONE	.	.	SMART_domains:SM00013,Pfam_domain:PF01462,Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,synonymous_variant,p.%3D,ENST00000330753,;FLRT2,synonymous_variant,p.%3D,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	908	75	40	SUCCESS
CHGA	1113	.	GRCh37	14	93399004	93399004	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771000157	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	71	0	ENST00000216492.5:c.1098C>A	p.Asp366Glu	p.D366E	ENST00000216492	NM_001275.3	366	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9906.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACAACCG	NONE	.	.	Pfam_domain:PF01271,hmmpanther:PTHR10583	.	.	ENSP00000216492	.	7/8	.	.	.	.	.	.	.	.	rs771000157	7/8	PASS	ENST00000216492	Transcript	.	.	ENSG00000100604	1929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.21)	.	CMGA_HUMAN	CHGA	HGNC	.	.	UPI000013C6F3	SNV	CHGA,missense_variant,p.Asp366Glu,ENST00000216492,;CHGA,missense_variant,p.Asp215Glu,ENST00000334654,;ITPK1,downstream_gene_variant,,ENST00000267615,;ITPK1,downstream_gene_variant,,ENST00000354313,;CHGA,downstream_gene_variant,,ENST00000553866,;CHGA,non_coding_transcript_exon_variant,,ENST00000556876,;CHGA,downstream_gene_variant,,ENST00000556076,;	1378	71	25	SUCCESS
HERC2P3	283755	.	GRCh37	15	20649565	20649565	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	16	0	ENST00000428453.1:n.2634A>G		p.*878*	ENST00000428453				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CCTTCTTTCCC	BUFFER|p.G650E|c.1949G>A|4	.	.	.	.	.	.	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440774,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440441,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,upstream_gene_variant,,ENST00000436934,;HERC2P3,upstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	2634	16	13	SUCCESS
APBA2	321	.	GRCh37	15	29406112	29406112	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs765311604	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	43	0	ENST00000558259.1:c.2071C>T	p.Arg691Ter	p.R691*	ENST00000558259	NM_005503.3	691	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS10022.1	2071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCGAGGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000453293	.	15/16	.	.	.	.	.	.	.	.	rs765311604	15/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,stop_gained,p.Arg691Ter,ENST00000558259,;APBA2,stop_gained,p.Arg691Ter,ENST00000561069,;APBA2,stop_gained,p.Arg691Ter,ENST00000558402,;APBA2,stop_gained,p.Arg679Ter,ENST00000411764,;APBA2,stop_gained,p.Arg679Ter,ENST00000558330,;	2670	43	19	SUCCESS
GJD2	57369	.	GRCh37	15	35045139	35045139	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	140	0	ENST00000290374.4:c.506del	p.Leu169Ter	p.L169*	ENST00000290374	NM_020660.2	169	tTa/ta	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS10040.1	506	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTCTAAACAA	NONE	.	.	hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984	.	.	ENSP00000290374	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000290374	Transcript	.	.	ENSG00000159248	19154	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXD2_HUMAN	GJD2	HGNC	.	.	UPI00001287E3	deletion	GJD2,frameshift_variant,p.Leu169Ter,ENST00000290374,;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	983	140	104	SUCCESS
MGA	23269	.	GRCh37	15	42058313	42058313	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	61	294	0	ENST00000219905.7:c.8033G>T	p.Ser2678Ile	p.S2678I	ENST00000219905	NM_001164273.1	2678	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS55959.1	8033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATAGCAAGC	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0.01)	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,missense_variant,p.Ser2678Ile,ENST00000219905,;MGA,missense_variant,p.Ser2678Ile,ENST00000570161,;MGA,missense_variant,p.Ser2639Ile,ENST00000389936,;MGA,missense_variant,p.Ser2469Ile,ENST00000545763,;MGA,missense_variant,p.Ser2469Ile,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000564190,;RP11-107F6.3,downstream_gene_variant,,ENST00000562063,;RP11-107F6.3,downstream_gene_variant,,ENST00000607504,;MGA,downstream_gene_variant,,ENST00000568255,;	8214	294	159	SUCCESS
PML	5371	.	GRCh37	15	74328285	74328285	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	48	0	ENST00000268058.3:c.1710+1414G>T		p.*570*	ENST00000268058	NM_033238.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10255.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGCCTCT	NONE	.	.	.	.	.	ENSP00000268058	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268058	Transcript	1	.	ENSG00000140464	9113	.	.	MODIFIER	7/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PML_HUMAN	PML	HGNC	Q9UE85_HUMAN,Q05835_HUMAN	.	UPI000013D78F	SNV	PML,missense_variant,p.Gly780Val,ENST00000354026,;PML,missense_variant,p.Gly828Val,ENST00000268059,;PML,3_prime_UTR_variant,,ENST00000563500,;PML,3_prime_UTR_variant,,ENST00000435786,;PML,3_prime_UTR_variant,,ENST00000436891,;PML,3_prime_UTR_variant,,ENST00000562086,;PML,3_prime_UTR_variant,,ENST00000567606,;PML,intron_variant,,ENST00000395135,;PML,intron_variant,,ENST00000565239,;PML,intron_variant,,ENST00000565898,;PML,intron_variant,,ENST00000359928,;PML,intron_variant,,ENST00000564428,;PML,intron_variant,,ENST00000569965,;PML,intron_variant,,ENST00000268058,;PML,intron_variant,,ENST00000395132,;PML,downstream_gene_variant,,ENST00000569477,;PML,downstream_gene_variant,,ENST00000567543,;PML,downstream_gene_variant,,ENST00000566068,;PML,downstream_gene_variant,,ENST00000569161,;PML,downstream_gene_variant,,ENST00000570213,;	.	48	37	SUCCESS
PSTPIP1	9051	.	GRCh37	15	77310799	77310799	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	75	0	ENST00000558012.1:c.139G>T	p.Ala47Ser	p.A47S	ENST00000558012	NM_003978.3	47	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45312.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGCCCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50133,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF3,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657	.	.	ENSP00000452746	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000558012	Transcript	1	.	ENSG00000140368	9580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	PPIP1_HUMAN	PSTPIP1	HGNC	.	.	UPI00000703D7	SNV	PSTPIP1,start_lost,p.Ala1?,ENST00000559856,;PSTPIP1,missense_variant,p.Ala38Ser,ENST00000559859,;PSTPIP1,missense_variant,p.Ala112Ser,ENST00000558407,;PSTPIP1,missense_variant,p.Ala46Ser,ENST00000267939,;PSTPIP1,missense_variant,p.Ala47Ser,ENST00000559295,;PSTPIP1,missense_variant,p.Ala47Ser,ENST00000558012,;PSTPIP1,missense_variant,p.Ala47Ser,ENST00000559161,;PSTPIP1,missense_variant,p.Ala47Ser,ENST00000379595,;PSTPIP1,splice_region_variant,,ENST00000560621,;PSTPIP1,missense_variant,p.Ala112Ser,ENST00000559785,;PSTPIP1,missense_variant,p.Ala13Ser,ENST00000560796,;PSTPIP1,missense_variant,p.Ala47Ser,ENST00000559750,;PSTPIP1,splice_region_variant,,ENST00000560223,;PSTPIP1,splice_region_variant,,ENST00000559795,;PSTPIP1,splice_region_variant,,ENST00000560377,;	628	75	26	SUCCESS
ALPK3	57538	.	GRCh37	15	85399661	85399661	+	synonymous_variant	Silent	SNP	G	G	A	rs549394061	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	123	0	ENST00000258888.5:c.2298G>A	p.Ser766=	p.S766=	ENST00000258888	NM_020778.4	766	tcG/tcA	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS10333.1	2298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCGGCCAG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21	T:0	.	ENSP00000258888	T:0	6/14	.	.	.	.	.	.	.	.	rs549394061	6/14	PASS	ENST00000258888	Transcript	.	T:0.0002	ENSG00000136383	17574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	ALPK3_HUMAN	ALPK3	HGNC	.	.	UPI000013D013	SNV	ALPK3,synonymous_variant,p.%3D,ENST00000258888,;SNORA25,upstream_gene_variant,,ENST00000364121,;	2465	123	69	SUCCESS
DNAH3	55567	.	GRCh37	16	21156684	21156684	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs138032546	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	35	107	0	ENST00000261383.3:c.266C>G	p.Thr89Arg	p.T89R	ENST00000261383	NM_017539.1	89	aCg/aGg	0	A:0	.	.	.	.	C	T/R	protein_coding	YES	CCDS10594.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGTGCGT	NONE	byCluster	.	.	.	A:0.0001	ENSP00000261383	.	3/62	.	.	.	.	.	.	.	.	rs138032546	3/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated_low_confidence(0.15)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Thr89Arg,ENST00000261383,;DNAH3,missense_variant,p.Thr89Arg,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000575491,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	266	107	52	SUCCESS
TRAF7	84231	.	GRCh37	16	2218152	2218152	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs547586265	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	15	59	0	ENST00000326181.6:c.214G>T	p.Asp72Tyr	p.D72Y	ENST00000326181	NM_032271.2	72	Gac/Tac	0	.	A:0	.	A:0	.	T	D/Y	protein_coding	YES	CCDS10461.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGGACGAG	NONE	by1000G	.	hmmpanther:PTHR22844:SF164,hmmpanther:PTHR22844	A:0	.	ENSP00000318944	A:0.001	4/21	.	.	.	.	.	.	.	.	rs547586265	4/21	PASS	ENST00000326181	Transcript	.	A:0.0002	ENSG00000131653	20456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	A:0	deleterious_low_confidence(0.01)	.	TRAF7_HUMAN	TRAF7	HGNC	H3BR17_HUMAN,D3DU86_HUMAN	.	UPI000014186F	SNV	TRAF7,missense_variant,p.Asp72Tyr,ENST00000326181,;TRAF7,missense_variant,p.Asp72Tyr,ENST00000567645,;TRAF7,3_prime_UTR_variant,,ENST00000564067,;TRAF7,non_coding_transcript_exon_variant,,ENST00000567653,;TRAF7,non_coding_transcript_exon_variant,,ENST00000565383,;TRAF7,non_coding_transcript_exon_variant,,ENST00000569686,;	346	59	22	SUCCESS
PIGQ	9091	.	GRCh37	16	633537	633537	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	24	72	0	ENST00000026218.5:c.2186A>C	p.Lys729Thr	p.K729T	ENST00000026218	NM_148920.2	729	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS10411.1	2186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAAGCAGT	NONE	.	.	.	.	.	ENSP00000026218	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000026218	Transcript	.	.	ENSG00000007541	14135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated_low_confidence(0.47)	.	PIGQ_HUMAN	PIGQ	HGNC	J3QTH6_HUMAN,B8ZZC7_HUMAN,B8ZZ31_HUMAN,B8ZZ29_HUMAN	.	UPI000006CC88	SNV	PIGQ,missense_variant,p.Lys729Thr,ENST00000026218,;PIGQ,3_prime_UTR_variant,,ENST00000321878,;PIGQ,downstream_gene_variant,,ENST00000409527,;PIGQ,downstream_gene_variant,,ENST00000540241,;PIGQ,downstream_gene_variant,,ENST00000544860,;PIGQ,downstream_gene_variant,,ENST00000540548,;PIGQ,non_coding_transcript_exon_variant,,ENST00000476438,;PIGQ,non_coding_transcript_exon_variant,,ENST00000480424,;PIGQ,downstream_gene_variant,,ENST00000420990,;PIGQ,downstream_gene_variant,,ENST00000443147,;PIGQ,downstream_gene_variant,,ENST00000537901,;	2274	72	32	SUCCESS
CBFB	865	.	GRCh37	16	67100668	67100668	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	125	0	ENST00000412916.2:c.366G>A	p.Met122Ile	p.M122I	ENST00000412916		122	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS45508.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTATGGGCTG	NONE	.	.	Superfamily_domains:0036041,Pfam_domain:PF02312,Gene3D:1e50B00,hmmpanther:PTHR10276,hmmpanther:PTHR10276:SF2	.	.	ENSP00000415151	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000412916	Transcript	.	.	ENSG00000067955	1539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.6)	.	PEBB_HUMAN	CBFB	HGNC	J3KRT0_HUMAN	.	UPI0000072C72	SNV	CBFB,missense_variant,p.Met22Ile,ENST00000563939,;CBFB,missense_variant,p.Met122Ile,ENST00000290858,;CBFB,missense_variant,p.Met122Ile,ENST00000412916,;CBFB,missense_variant,p.Met22Ile,ENST00000561924,;CBFB,missense_variant,p.Met83Ile,ENST00000564034,;CBFB,intron_variant,,ENST00000565389,;CBFB,non_coding_transcript_exon_variant,,ENST00000567947,;	529	125	77	SUCCESS
FHOD1	29109	.	GRCh37	16	67265130	67265130	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	43	131	0	ENST00000258201.4:c.2628C>T	p.Asp876=	p.D876=	ENST00000258201	NM_013241.2	876	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS10834.1	2628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGGTCAGA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF189,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000258201	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000258201	Transcript	.	.	ENSG00000135723	17905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHOD1_HUMAN	FHOD1	HGNC	.	.	UPI000013CFB9	SNV	FHOD1,synonymous_variant,p.%3D,ENST00000258201,;TMEM208,downstream_gene_variant,,ENST00000304800,;LRRC29,upstream_gene_variant,,ENST00000433915,;TMEM208,downstream_gene_variant,,ENST00000563953,;LRRC29,upstream_gene_variant,,ENST00000393992,;TMEM208,downstream_gene_variant,,ENST00000565201,;LRRC29,upstream_gene_variant,,ENST00000409509,;LRRC29,upstream_gene_variant,,ENST00000447579,;LRRC29,upstream_gene_variant,,ENST00000424285,;AC040160.1,upstream_gene_variant,,ENST00000454102,;LRRC29,upstream_gene_variant,,ENST00000341546,;TMEM208,downstream_gene_variant,,ENST00000563426,;LRRC29,upstream_gene_variant,,ENST00000485549,;LRRC29,upstream_gene_variant,,ENST00000462169,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;FHOD1,intron_variant,,ENST00000567561,;FHOD1,downstream_gene_variant,,ENST00000561922,;TMEM208,downstream_gene_variant,,ENST00000564649,;TMEM208,downstream_gene_variant,,ENST00000563168,;FHOD1,downstream_gene_variant,,ENST00000568595,;FHOD1,downstream_gene_variant,,ENST00000567509,;TMEM208,downstream_gene_variant,,ENST00000564087,;TMEM208,downstream_gene_variant,,ENST00000566486,;FHOD1,upstream_gene_variant,,ENST00000566006,;TMEM208,downstream_gene_variant,,ENST00000567193,;FHOD1,downstream_gene_variant,,ENST00000562266,;FHOD1,downstream_gene_variant,,ENST00000569888,;TMEM208,downstream_gene_variant,,ENST00000562235,;TMEM208,downstream_gene_variant,,ENST00000561586,;TMEM208,downstream_gene_variant,,ENST00000563271,;FHOD1,upstream_gene_variant,,ENST00000569085,;	2876	131	56	SUCCESS
DPH1	1801	.	GRCh37	17	1945139	1945139	+	synonymous_variant	Silent	SNP	G	G	A	rs1399885692	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	36	56	0	ENST00000263083.6:c.1320G>A	p.Pro440=	p.P440=	ENST00000263083	NM_001383.3	440	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42228.1	1320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCTGGC	NONE	.	.	hmmpanther:PTHR10762:SF1,hmmpanther:PTHR10762	.	.	ENSP00000263083	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000263083	Transcript	.	.	ENSG00000108963	3003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPH1_HUMAN	DPH1	HGNC	B3KQW7_HUMAN	.	UPI000013D3A0	SNV	DPH1,synonymous_variant,p.%3D,ENST00000607788,;DPH1,synonymous_variant,p.%3D,ENST00000263083,;DPH1,synonymous_variant,p.%3D,ENST00000570477,;DPH1,synonymous_variant,p.%3D,ENST00000571710,;DPH1,synonymous_variant,p.%3D,ENST00000571418,;DPH1,synonymous_variant,p.%3D,ENST00000575162,;OVCA2,upstream_gene_variant,,ENST00000572195,;RP11-667K14.3,downstream_gene_variant,,ENST00000572790,;RP11-667K14.4,downstream_gene_variant,,ENST00000572404,;DPH1,downstream_gene_variant,,ENST00000576891,;DPH1,synonymous_variant,p.%3D,ENST00000263084,;DPH1,3_prime_UTR_variant,,ENST00000575667,;DPH1,non_coding_transcript_exon_variant,,ENST00000570867,;DPH1,non_coding_transcript_exon_variant,,ENST00000572214,;DPH1,non_coding_transcript_exon_variant,,ENST00000572684,;DPH1,non_coding_transcript_exon_variant,,ENST00000572248,;DPH1,downstream_gene_variant,,ENST00000572819,;DPH1,downstream_gene_variant,,ENST00000576129,;DPH1,downstream_gene_variant,,ENST00000575998,;DPH1,downstream_gene_variant,,ENST00000570833,;	1365	56	45	SUCCESS
KIAA0100	9703	.	GRCh37	17	26965006	26965006	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	75	0	ENST00000528896.2:c.1619A>C	p.Gln540Pro	p.Q540P	ENST00000528896	NM_014680.3	540	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS32595.1	1619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATTGGGCA	NONE	.	.	hmmpanther:PTHR15678,Pfam_domain:PF10344	.	.	ENSP00000436773	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.13)	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,missense_variant,p.Gln397Pro,ENST00000544884,;KIAA0100,missense_variant,p.Gln397Pro,ENST00000389003,;KIAA0100,missense_variant,p.Gln540Pro,ENST00000528896,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000582901,;KIAA0100,downstream_gene_variant,,ENST00000579253,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,downstream_gene_variant,,ENST00000581267,;	1694	75	54	SUCCESS
TBC1D3	729873	.	GRCh37	17	36352471	36352471	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs759924584	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	602	26	602	0	ENST00000537432.1:c.-112G>T		p.*38*	ENST00000537432		439		0	.	.	.	.	.	A	S/I	protein_coding	YES	.	1316	MUTECT|MUSE	.	CTTTGCTATAT	NONE	byFrequency	.	Superfamily_domains:SSF55486,Gene3D:1.10.390.10,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF163,hmmpanther:PTHR11533	.	.	ENSP00000428261	.	11/12	.	.	.	.	.	.	.	.	rs759924584	11/12	PASS	ENST00000520237	Transcript	.	.	ENSG00000174093	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-1407O15.2	Clone_based_vega_gene	E7EWZ2_HUMAN	.	UPI0001AE669C	SNV	RP11-1407O15.2,missense_variant,p.Ser439Ile,ENST00000520237,;RP11-1407O15.2,missense_variant,p.Ser439Ile,ENST00000312412,;RP11-1407O15.2,missense_variant,p.Ser395Ile,ENST00000523089,;RP11-1407O15.2,missense_variant,p.Ser284Ile,ENST00000544906,;RP11-1407O15.2,missense_variant,p.Ser435Ile,ENST00000518004,;TBC1D3,5_prime_UTR_variant,,ENST00000537432,;TBC1D3,upstream_gene_variant,,ENST00000339023,;TBC1D3,upstream_gene_variant,,ENST00000519532,;TBC1D3,upstream_gene_variant,,ENST00000354664,;RP11-1407O15.2,missense_variant,p.Ser127Ile,ENST00000523258,;RP11-1407O15.2,3_prime_UTR_variant,,ENST00000523052,;RP11-1407O15.2,3_prime_UTR_variant,,ENST00000520499,;RP11-1407O15.2,non_coding_transcript_exon_variant,,ENST00000400815,;TBC1D3,upstream_gene_variant,,ENST00000524102,;TBC1D3,upstream_gene_variant,,ENST00000517507,;TBC1D3,upstream_gene_variant,,ENST00000520599,;	1426	602	628	SUCCESS
IKZF3	22806	.	GRCh37	17	37947672	37947681	+	frameshift_variant	Frame_Shift_Del	DEL	AATGTGTCCT	AATGTGTCCT	-	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	AATGTGTCCT	AATGTGTCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	82	11	87	0	ENST00000346872.3:c.580_589del	p.Arg194LeufsTer63	p.R194Lfs*63	ENST00000346872	NM_012481.4	194	AGGACACATTct/ct	0	.	.	.	.	.	-	RTHS/X	protein_coding	YES	CCDS11346.1	580-589	INDELOCATOR*|VARSCANI*|PINDEL	.	TACCAGAATGTGTCCTAAGAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF29,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000344544	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000346872	Transcript	.	.	ENSG00000161405	13178	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IKZF3_HUMAN	IKZF3	HGNC	B4DVV5_HUMAN	.	UPI000006E6CC	deletion	IKZF3,frameshift_variant,p.Arg194LeufsTer24,ENST00000351680,;IKZF3,frameshift_variant,p.Arg160LeufsTer24,ENST00000439167,;IKZF3,frameshift_variant,p.Arg194LeufsTer29,ENST00000346243,;IKZF3,frameshift_variant,p.Arg160LeufsTer63,ENST00000535189,;IKZF3,frameshift_variant,p.Arg107LeufsTer63,ENST00000377958,;IKZF3,frameshift_variant,p.Arg194LeufsTer63,ENST00000346872,;IKZF3,frameshift_variant,p.Arg194LeufsTer68,ENST00000350532,;IKZF3,intron_variant,,ENST00000377944,;IKZF3,intron_variant,,ENST00000377952,;IKZF3,intron_variant,,ENST00000439016,;IKZF3,intron_variant,,ENST00000394189,;IKZF3,intron_variant,,ENST00000467757,;IKZF3,intron_variant,,ENST00000377945,;IKZF3,frameshift_variant,p.Arg194LeufsTer54,ENST00000293068,;IKZF3,intron_variant,,ENST00000348427,;	642-651	87	93	SUCCESS
KCNH4	23415	.	GRCh37	17	40330149	40330149	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	102	0	ENST00000264661.3:c.554G>T	p.Arg185Leu	p.R185L	ENST00000264661	NM_012285.2	185	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11420.1	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGGCCA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378	.	.	ENSP00000264661	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000264661	Transcript	.	.	ENSG00000089558	6253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.01)	.	KCNH4_HUMAN	KCNH4	HGNC	.	.	UPI000012DCA8	SNV	KCNH4,missense_variant,p.Arg185Leu,ENST00000264661,;KCNH4,missense_variant,p.Arg185Leu,ENST00000607371,;	887	102	69	SUCCESS
NPEPPS	9520	.	GRCh37	17	45669377	45669377	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	451	25	457	0	ENST00000322157.4:c.1316G>T	p.Ser439Ile	p.S439I	ENST00000322157	NM_006310.3	439	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS45721.1	1316	MUTECT|MUSE	.	ATATAGCAAAG	NONE	.	.	hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF163,Gene3D:1.10.390.10,Pfam_domain:PF01433,Superfamily_domains:SSF55486	.	.	ENSP00000320324	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000322157	Transcript	.	.	ENSG00000141279	7900	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.786)	.	tolerated(0.06)	.	PSA_HUMAN	NPEPPS	HGNC	E9PJ74_HUMAN,B7Z1H4_HUMAN	.	UPI0000140D51	SNV	NPEPPS,missense_variant,p.Ser136Ile,ENST00000527360,;NPEPPS,missense_variant,p.Ser435Ile,ENST00000530173,;NPEPPS,missense_variant,p.Ser439Ile,ENST00000322157,;NPEPPS,missense_variant,p.Ser122Ile,ENST00000527964,;NPEPPS,missense_variant,p.Ser359Ile,ENST00000544660,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000525037,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000534814,;NPEPPS,3_prime_UTR_variant,,ENST00000527298,;NPEPPS,3_prime_UTR_variant,,ENST00000530514,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000602788,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000529602,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000525021,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000533538,;NPEPPS,upstream_gene_variant,,ENST00000534807,;	1553	457	476	SUCCESS
CD300LB	124599	.	GRCh37	17	72519709	72519709	+	intron_variant	Intron	SNP	A	A	G	rs375010301	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	86	0	ENST00000392621.1:c.554+9T>C		p.*185*	ENST00000392621	NM_174892.3			0	G:0.0009	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACATGACT	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000376397	.	.	.	.	.	.	.	.	.	.	rs375010301	.	PASS	ENST00000392621	Transcript	.	.	ENSG00000178789	30811	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM7_HUMAN	CD300LB	HGNC	B4DQ71_HUMAN	.	UPI000013F7FE	SNV	CD300LB,3_prime_UTR_variant,,ENST00000314401,;CD300LB,intron_variant,,ENST00000392621,;	.	86	62	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	44	110	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	110	61	SUCCESS
AATK	9625	.	GRCh37	17	79096446	79096446	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	18	0	ENST00000326724.4:c.1290G>A	p.Ala430=	p.A430=	ENST00000326724	NM_001080395.2	430	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45807.1	1290	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCCGCCGCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417	.	.	ENSP00000324196	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,synonymous_variant,p.%3D,ENST00000326724,;AATK,synonymous_variant,p.%3D,ENST00000417379,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR338,upstream_gene_variant,,ENST00000390137,;AATK,non_coding_transcript_exon_variant,,ENST00000573441,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,synonymous_variant,p.%3D,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;AATK,downstream_gene_variant,,ENST00000576053,;	1315	18	14	SUCCESS
ALOX12B	242	.	GRCh37	17	7990900	7990900	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	11	20	0	ENST00000319144.4:c.-140G>A		p.*47*	ENST00000319144	NM_001139.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11129.1	.	MUTECT|MUSE	.	GGTGGCGAGGT	NONE	.	.	.	.	.	ENSP00000315167	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000319144	Transcript	.	.	ENSG00000179477	430	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LX12B_HUMAN	ALOX12B	HGNC	.	.	UPI000000D996	SNV	ALOX12B,5_prime_UTR_variant,,ENST00000319144,;MIR4314,upstream_gene_variant,,ENST00000583321,;	122	20	12	SUCCESS
RAB3D	9545	.	GRCh37	19	11446411	11446411	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs200767418	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	101	0	ENST00000222120.3:c.277C>G	p.Arg93Gly	p.R93G	ENST00000222120	NM_004283.3	93	Cgg/Ggg	0	A:0.0014	A:0.0023	.	A:0	.	C	R/G	protein_coding	YES	CCDS12257.1	277	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGGTAGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF330,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000222120	A:0	3/5	.	.	.	.	.	.	.	.	rs200767418	3/5	PASS	ENST00000222120	Transcript	.	A:0.0006	ENSG00000105514	9779	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	A:0	deleterious(0)	.	RAB3D_HUMAN	RAB3D	HGNC	.	.	UPI000000125B	SNV	RAB3D,missense_variant,p.Arg93Gly,ENST00000589655,;RAB3D,missense_variant,p.Arg93Gly,ENST00000222120,;	538	101	88	SUCCESS
NWD1	284434	.	GRCh37	19	16926064	16926064	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	106	185	0	ENST00000552788.1:c.4619A>T	p.Gln1540Leu	p.Q1540L	ENST00000552788		1540	cAg/cTg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32945.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAGGACT	NONE	.	.	.	.	.	ENSP00000428579	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000524140	Transcript	.	.	ENSG00000188039	27619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NWD1_HUMAN	NWD1	HGNC	.	.	UPI0000D6173E	SNV	NWD1,missense_variant,p.Gln1405Leu,ENST00000339803,;NWD1,missense_variant,p.Gln1540Leu,ENST00000552788,;NWD1,missense_variant,p.Gln1498Leu,ENST00000549814,;NWD1,missense_variant,p.Gln1334Leu,ENST00000523826,;NWD1,3_prime_UTR_variant,,ENST00000524140,;NWD1,3_prime_UTR_variant,,ENST00000379808,;NWD1,3_prime_UTR_variant,,ENST00000438489,;NWD1,3_prime_UTR_variant,,ENST00000518676,;	4931	186	177	SUCCESS
GTPBP3	84705	.	GRCh37	19	17452488	17452488	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	13	185	0	ENST00000324894.8:c.1455C>T	p.Phe485=	p.F485=	ENST00000324894	NM_133644.3	485	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS32950.1	1551	MUTECT|MUSE	.	ATCTTCCAGGA	NONE	.	.	HAMAP:MF_00379,hmmpanther:PTHR11649,hmmpanther:PTHR11649:SF56,Pfam_domain:PF12631,Gene3D:1xzpA02,Superfamily_domains:0051155	.	.	ENSP00000351644	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358792	Transcript	1	.	ENSG00000130299	14880	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GTPB3_HUMAN	GTPBP3	HGNC	.	.	UPI000059D6A7	SNV	GTPBP3,synonymous_variant,p.%3D,ENST00000361619,;GTPBP3,synonymous_variant,p.%3D,ENST00000324894,;GTPBP3,synonymous_variant,p.%3D,ENST00000358792,;GTPBP3,synonymous_variant,p.%3D,ENST00000600625,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000598038,;GTPBP3,downstream_gene_variant,,ENST00000596218,;GTPBP3,downstream_gene_variant,,ENST00000595951,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000600995,;GTPBP3,downstream_gene_variant,,ENST00000596941,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,downstream_gene_variant,,ENST00000593297,;GTPBP3,downstream_gene_variant,,ENST00000596166,;GTPBP3,downstream_gene_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000602165,;GTPBP3,downstream_gene_variant,,ENST00000600610,;GTPBP3,downstream_gene_variant,,ENST00000594703,;GTPBP3,downstream_gene_variant,,ENST00000601983,;GTPBP3,downstream_gene_variant,,ENST00000599329,;GTPBP3,downstream_gene_variant,,ENST00000596001,;GTPBP3,downstream_gene_variant,,ENST00000595194,;GTPBP3,downstream_gene_variant,,ENST00000596125,;GTPBP3,downstream_gene_variant,,ENST00000598493,;GTPBP3,downstream_gene_variant,,ENST00000601261,;GTPBP3,downstream_gene_variant,,ENST00000602056,;GTPBP3,downstream_gene_variant,,ENST00000601213,;GTPBP3,downstream_gene_variant,,ENST00000599429,;GTPBP3,downstream_gene_variant,,ENST00000594018,;	1608	185	165	SUCCESS
COMP	1311	.	GRCh37	19	18896509	18896509	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	69	0	ENST00000222271.2:c.1642G>A	p.Asp548Asn	p.D548N	ENST00000222271	NM_000095.2	548	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12385.1	1642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCAATCT	NONE	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF81,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000222271	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000222271	Transcript	1	.	ENSG00000105664	2227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	COMP_HUMAN	COMP	HGNC	G3XAP6_HUMAN	.	UPI000013C7F6	SNV	COMP,missense_variant,p.Asp515Asn,ENST00000542601,;COMP,missense_variant,p.Asp495Asn,ENST00000425807,;COMP,missense_variant,p.Asp548Asn,ENST00000222271,;CRTC1,downstream_gene_variant,,ENST00000338797,;COMP,downstream_gene_variant,,ENST00000546510,;	1687	69	60	SUCCESS
ZFP82	284406	.	GRCh37	19	36884088	36884088	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	112	0	ENST00000392161.3:c.1154A>G	p.His385Arg	p.H385R	ENST00000392161	NM_133466.2	385	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12493.1	1154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTGATGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000431265	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392161	Transcript	.	.	ENSG00000181007	28682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.02)	.	ZFP82_HUMAN	ZFP82	HGNC	D3Y299_HUMAN	.	UPI0000071159	SNV	ZFP82,missense_variant,p.His385Arg,ENST00000392171,;ZFP82,missense_variant,p.His385Arg,ENST00000392161,;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	1397	112	69	SUCCESS
ZC3H4	23211	.	GRCh37	19	47593287	47593287	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	86	0	ENST00000253048.5:c.652G>A	p.Asp218Asn	p.D218N	ENST00000253048	NM_015168.1	218	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS42582.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGTCATAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13119:SF23,hmmpanther:PTHR13119	.	.	ENSP00000253048	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000253048	Transcript	.	.	ENSG00000130749	17808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	ZC3H4_HUMAN	ZC3H4	HGNC	.	.	UPI00001C2000	SNV	ZC3H4,missense_variant,p.Asp218Asn,ENST00000253048,;ZC3H4,upstream_gene_variant,,ENST00000601973,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000597069,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000594019,;ZC3H4,downstream_gene_variant,,ENST00000595341,;	690	86	76	SUCCESS
ADM5	199800	.	GRCh37	19	50193723	50193723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	52	130	0	ENST00000420022.3:c.435C>A	p.Phe145Leu	p.F145L	ENST00000420022	NM_001101340.1	145	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS46146.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCCCAG	NONE	.	.	.	.	.	ENSP00000393631	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000420022	Transcript	.	.	ENSG00000224420	27293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	tolerated_low_confidence(0.33)	.	ADM5_HUMAN	ADM5	HGNC	.	.	UPI00001601D9	SNV	ADM5,missense_variant,p.Phe145Leu,ENST00000420022,;CPT1C,upstream_gene_variant,,ENST00000602019,;CPT1C,upstream_gene_variant,,ENST00000598293,;CPT1C,upstream_gene_variant,,ENST00000323446,;PRMT1,downstream_gene_variant,,ENST00000391851,;CPT1C,upstream_gene_variant,,ENST00000595969,;CPT1C,upstream_gene_variant,,ENST00000594587,;CPT1C,upstream_gene_variant,,ENST00000392518,;CPT1C,upstream_gene_variant,,ENST00000354199,;PRMT1,downstream_gene_variant,,ENST00000532489,;PRMT1,downstream_gene_variant,,ENST00000454376,;CPT1C,upstream_gene_variant,,ENST00000598396,;CPT1C,upstream_gene_variant,,ENST00000405931,;CTB-33G10.6,non_coding_transcript_exon_variant,,ENST00000596472,;PRMT1,downstream_gene_variant,,ENST00000527866,;PRMT1,downstream_gene_variant,,ENST00000530361,;CPT1C,upstream_gene_variant,,ENST00000598714,;PRMT1,downstream_gene_variant,,ENST00000530070,;CPT1C,upstream_gene_variant,,ENST00000599023,;CPT1C,upstream_gene_variant,,ENST00000596922,;CPT1C,upstream_gene_variant,,ENST00000295404,;CPT1C,upstream_gene_variant,,ENST00000600944,;CPT1C,upstream_gene_variant,,ENST00000594038,;PRMT1,downstream_gene_variant,,ENST00000528126,;CPT1C,upstream_gene_variant,,ENST00000595568,;CPT1C,upstream_gene_variant,,ENST00000598259,;	1609	130	94	SUCCESS
ZNF473	25888	.	GRCh37	19	50549299	50549299	+	synonymous_variant	Silent	SNP	C	C	T	rs201590980	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	95	1	ENST00000270617.3:c.1599C>T	p.His533=	p.H533=	ENST00000270617	NM_015428.1	533	caC/caT	0	T:0	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS33077.1	1599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACGAGAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF112,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0	T:0.0001	ENSP00000472808	T:0.001	6/6	.	.	.	.	.	.	.	.	rs201590980	6/6	PASS	ENST00000595661	Transcript	.	T:0.0002	ENSG00000142528	23239	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN473_HUMAN	ZNF473	HGNC	M0R032_HUMAN,M0QZY7_HUMAN,F8WEC7_HUMAN	.	UPI000006ED91	SNV	ZNF473,synonymous_variant,p.%3D,ENST00000270617,;ZNF473,synonymous_variant,p.%3D,ENST00000595661,;ZNF473,synonymous_variant,p.%3D,ENST00000391821,;ZNF473,synonymous_variant,p.%3D,ENST00000445728,;ZNF473,intron_variant,,ENST00000601364,;ZNF473,downstream_gene_variant,,ENST00000598809,;ZNF473,downstream_gene_variant,,ENST00000599155,;CTD-2126E3.3,intron_variant,,ENST00000599410,;CTD-2126E3.3,intron_variant,,ENST00000599914,;CTD-2126E3.1,upstream_gene_variant,,ENST00000527209,;ZNF473,downstream_gene_variant,,ENST00000594968,;ZNF473,downstream_gene_variant,,ENST00000598802,;	2094	96	104	SUCCESS
MYH14	79784	.	GRCh37	19	50753873	50753873	+	synonymous_variant	Silent	SNP	C	C	T	rs1368085212	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	36	227	0	ENST00000376970.2:c.1734C>T	p.Gly578=	p.G578=	ENST00000376970	NM_024729.3	578	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS54295.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCCACCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000470298	.	15/43	.	.	.	.	.	.	.	.	.	15/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,synonymous_variant,p.%3D,ENST00000440075,;MYH14,synonymous_variant,p.%3D,ENST00000601313,;MYH14,synonymous_variant,p.%3D,ENST00000376970,;MYH14,synonymous_variant,p.%3D,ENST00000596571,;MYH14,synonymous_variant,p.%3D,ENST00000425460,;MYH14,synonymous_variant,p.%3D,ENST00000599920,;MYH14,synonymous_variant,p.%3D,ENST00000598205,;MYH14,synonymous_variant,p.%3D,ENST00000262269,;	1788	227	176	SUCCESS
ZNF816	125893	.	GRCh37	19	53454379	53454379	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	84	0	ENST00000357666.4:c.649A>G	p.Thr217Ala	p.T217A	ENST00000357666	NM_001031665.2	217	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33096.1	649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGTGAATG	NONE	.	.	hmmpanther:PTHR24377:SF236,hmmpanther:PTHR24377,Superfamily_domains:SSF57667	.	.	ENSP00000350295	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000357666	Transcript	.	.	ENSG00000180257	26995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.19)	.	ZN816_HUMAN	ZNF816	HGNC	I3L0H5_HUMAN	.	UPI0000251D78	SNV	ZNF816,missense_variant,p.Thr217Ala,ENST00000444460,;ZNF816,missense_variant,p.Thr217Ala,ENST00000357666,;ZNF816,intron_variant,,ENST00000434371,;ZNF321P,intron_variant,,ENST00000391777,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,;CTD-2620I22.1,downstream_gene_variant,,ENST00000600068,;	950	84	63	SUCCESS
PPP1R12C	54776	.	GRCh37	19	55610211	55610211	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	21	167	0	ENST00000263433.3:c.892G>A	p.Asp298Asn	p.D298N	ENST00000263433	NM_017607.3	298	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12916.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCACAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF48403,PIRSF_domain:PIRSF038141,Gene3D:1.25.40.20,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF19,PROSITE_profiles:PS50297	.	.	ENSP00000263433	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000263433	Transcript	.	.	ENSG00000125503	14947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	PP12C_HUMAN	PPP1R12C	HGNC	.	.	UPI000006FEE1	SNV	PPP1R12C,missense_variant,p.Asp298Asn,ENST00000376393,;PPP1R12C,missense_variant,p.Asp255Asn,ENST00000592993,;PPP1R12C,missense_variant,p.Asp224Asn,ENST00000435544,;PPP1R12C,missense_variant,p.Asp298Asn,ENST00000263433,;PPP1R12C,upstream_gene_variant,,ENST00000591938,;PPP1R12C,upstream_gene_variant,,ENST00000586197,;PPP1R12C,upstream_gene_variant,,ENST00000588277,;PPP1R12C,upstream_gene_variant,,ENST00000592754,;	908	167	117	SUCCESS
ZNF446	55663	.	GRCh37	19	58988826	58988826	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	81	0	ENST00000594369.1:c.241G>T	p.Glu81Ter	p.E81*	ENST00000594369	NM_017908.2	81	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12982.1	241	MUTECT|MUSE	.	CTCCCGAGATC	NONE	.	.	Superfamily_domains:SSF47353,SMART_domains:SM00431,Pfam_domain:PF02023,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF73,PROSITE_profiles:PS50804	.	.	ENSP00000472802	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000594369	Transcript	.	.	ENSG00000083838	21036	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN446_HUMAN	ZNF446	HGNC	Q9UFF2_HUMAN,M0R034_HUMAN	.	UPI0000071779	SNV	ZNF446,stop_gained,p.Glu81Ter,ENST00000596341,;ZNF446,stop_gained,p.Glu81Ter,ENST00000335841,;ZNF446,stop_gained,p.Glu81Ter,ENST00000600013,;ZNF446,stop_gained,p.Glu81Ter,ENST00000594369,;ZNF324,downstream_gene_variant,,ENST00000535298,;ZNF324,downstream_gene_variant,,ENST00000196482,;ZNF324,downstream_gene_variant,,ENST00000593925,;ZNF324,downstream_gene_variant,,ENST00000536459,;CTD-2619J13.23,upstream_gene_variant,,ENST00000598051,;ZNF446,downstream_gene_variant,,ENST00000599913,;ZNF446,non_coding_transcript_exon_variant,,ENST00000391694,;ZNF446,non_coding_transcript_exon_variant,,ENST00000594468,;SLC27A5,downstream_gene_variant,,ENST00000595851,;	622	81	55	SUCCESS
AMY1C	278	.	GRCh37	1	104297364	104297364	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	48	332	0	ENST00000370079.3:c.1029G>T	p.Met343Ile	p.M343I	ENST00000370079	NM_001008219.1	343	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS30784.1	1029	RADIA|VARSCANS	.	TTTATGCTTGC	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000359096	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000370079	Transcript	.	.	ENSG00000187733	476	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	AMY1_HUMAN	AMY1C	HGNC	Q5T085_HUMAN,Q5T084_HUMAN	.	UPI0000125AA9	SNV	AMY1C,missense_variant,p.Met343Ile,ENST00000370079,;	1093	333	284	SUCCESS
GPR61	83873	.	GRCh37	1	110085966	110085966	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs752917891	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	54	0	ENST00000404129.2:c.322G>A	p.Ala108Thr	p.A108T	ENST00000404129		108	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS801.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGCCCTC	NONE	byFrequency	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR22752:SF5,hmmpanther:PTHR22752,PROSITE_profiles:PS50262	.	.	ENSP00000432456	.	2/2	.	.	.	.	.	.	.	.	rs752917891,COSM265901	2/2	PASS	ENST00000527748	Transcript	.	.	ENSG00000156097	13300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.21)	0,1	GPR61_HUMAN	GPR61	HGNC	Q59GL3_HUMAN,G4XH66_HUMAN	.	UPI000003BCCB	SNV	GPR61,missense_variant,p.Ala108Thr,ENST00000527748,;RP5-1160K1.8,intron_variant,,ENST00000526411,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,missense_variant,p.Ala108Thr,ENST00000404129,;GPR61,missense_variant,p.Ala108Thr,ENST00000469383,;	1005	54	44	SUCCESS
MAGI3	260425	.	GRCh37	1	114162434	114162434	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	70	323	0	ENST00000307546.9:c.1153A>C	p.Ile385Leu	p.I385L	ENST00000307546	NM_001142782.1	385	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS44196.1	1153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAATTGGG	NONE	.	.	hmmpanther:PTHR10316:SF10,hmmpanther:PTHR10316	.	.	ENSP00000304604	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000307546	Transcript	.	.	ENSG00000081026	29647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.78)	.	MAGI3_HUMAN	MAGI3	HGNC	.	.	UPI00004589AE	SNV	MAGI3,missense_variant,p.Ile410Leu,ENST00000369617,;MAGI3,missense_variant,p.Ile385Leu,ENST00000369615,;MAGI3,missense_variant,p.Ile385Leu,ENST00000307546,;MAGI3,missense_variant,p.Ile385Leu,ENST00000369611,;	1228	323	213	SUCCESS
PTPN22	26191	.	GRCh37	1	114380834	114380834	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	85	0	ENST00000359785.5:c.1188A>G	p.Lys396=	p.K396=	ENST00000359785	NM_015967.5	396	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS863.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATTTCAT	NONE	.	.	PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,synonymous_variant,p.%3D,ENST00000528414,;PTPN22,synonymous_variant,p.%3D,ENST00000420377,;PTPN22,synonymous_variant,p.%3D,ENST00000359785,;PTPN22,synonymous_variant,p.%3D,ENST00000525799,;PTPN22,synonymous_variant,p.%3D,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	1324	85	68	SUCCESS
ATP1A1	476	.	GRCh37	1	116929969	116929969	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	90	0	ENST00000295598.5:c.243T>C	p.Thr81=	p.T81=	ENST00000295598	NM_000701.7	81	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS53351.1	243	MUTECT|MUSE	.	CTCACTCCCCC	NONE	.	.	hmmpanther:PTHR24093:SF222,hmmpanther:PTHR24093,Pfam_domain:PF00690,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,SMART_domains:SM00831,Superfamily_domains:0049473	.	.	ENSP00000445306	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,synonymous_variant,p.%3D,ENST00000537345,;ATP1A1,synonymous_variant,p.%3D,ENST00000418797,;ATP1A1,synonymous_variant,p.%3D,ENST00000295598,;ATP1A1,synonymous_variant,p.%3D,ENST00000369496,;ATP1A1,synonymous_variant,p.%3D,ENST00000369494,;AL136376.1,upstream_gene_variant,,ENST00000598661,;ATP1A1,non_coding_transcript_exon_variant,,ENST00000463382,;ATP1A1OS,downstream_gene_variant,,ENST00000608511,;ATP1A1,upstream_gene_variant,,ENST00000491156,;ATP1A1,downstream_gene_variant,,ENST00000488733,;	606	90	53	SUCCESS
ANKRD20A12P	100874392	.	GRCh37	1	142699387	142699388	+	non_coding_transcript_exon_variant	RNA	INS	-	-	AA	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	29	0	ENST00000416817.2:n.2003_2004insTT		p.*668*	ENST00000416817				0	.	.	.	.	.	AA	.	lincRNA	YES	.	.	INDELOCATOR*|PINDEL	.	TATTATATCCT	NONE	.	.	.	.	.	.	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000610091	Transcript	.	.	ENSG00000203849	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-417J8.6	Clone_based_vega_gene	.	.	.	insertion	RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000369381,;RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000610091,;RP11-417J8.3,intron_variant,,ENST00000411746,;ANKRD20A12P,non_coding_transcript_exon_variant,,ENST00000416817,;	3175-3176	29	34	SUCCESS
ATAD3B	83858	.	GRCh37	1	1431055	1431055	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	101	0	ENST00000308647.7:c.1805C>T	p.Pro602Leu	p.P602L	ENST00000308647	NM_031921.4	602	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS30.1	1805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCCTCCT	BUFFER|p.Y604H|c.1810T>C|3	.	.	.	.	.	ENSP00000311766	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000308647	Transcript	.	.	ENSG00000160072	24007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious_low_confidence(0)	.	ATD3B_HUMAN	ATAD3B	HGNC	Q9H834_HUMAN	.	UPI000013E044	SNV	ATAD3B,missense_variant,p.Pro602Leu,ENST00000308647,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,;	1921	101	45	SUCCESS
C1orf61	0	.	GRCh37	1	156376969	156376969	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	35	144	0	ENST00000368243.1:c.326A>C	p.Tyr109Ser	p.Y109S	ENST00000368243	NM_006365.1	109	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS1142.1	326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATAAGCA	NONE	.	.	.	.	.	ENSP00000357226	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000368243	Transcript	.	.	ENSG00000125462	30780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.412)	.	deleterious_low_confidence(0)	.	CROC4_HUMAN	C1orf61	HGNC	.	.	UPI000006E362	SNV	C1orf61,missense_variant,p.Tyr122Ser,ENST00000357975,;C1orf61,missense_variant,p.Tyr109Ser,ENST00000368243,;C1orf61,missense_variant,p.Tyr141Ser,ENST00000368242,;C1orf61,intron_variant,,ENST00000310027,;C1orf61,intron_variant,,ENST00000400991,;C1orf61,non_coding_transcript_exon_variant,,ENST00000464238,;C1orf61,non_coding_transcript_exon_variant,,ENST00000482932,;C1orf61,non_coding_transcript_exon_variant,,ENST00000488498,;C1orf61,intron_variant,,ENST00000492750,;C1orf61,intron_variant,,ENST00000497824,;C1orf61,intron_variant,,ENST00000462458,;C1orf61,intron_variant,,ENST00000486517,;C1orf61,intron_variant,,ENST00000465270,;C1orf61,intron_variant,,ENST00000471156,;C1orf61,intron_variant,,ENST00000497822,;C1orf61,intron_variant,,ENST00000498346,;C1orf61,intron_variant,,ENST00000465570,;C1orf61,downstream_gene_variant,,ENST00000489877,;C1orf61,downstream_gene_variant,,ENST00000484428,;C1orf61,downstream_gene_variant,,ENST00000476966,;C1orf61,downstream_gene_variant,,ENST00000489918,;C1orf61,intron_variant,,ENST00000608007,;	443	144	213	SUCCESS
FHAD1	114827	.	GRCh37	1	15653625	15653625	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	118	338	1	ENST00000358897.4:c.1544T>A	p.Val515Asp	p.V515D	ENST00000358897	NM_052929.1	515	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	.	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGTCACCG	NONE	.	.	hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853	.	.	ENSP00000365163	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	SNV	FHAD1,missense_variant,p.Val194Asp,ENST00000375997,;FHAD1,missense_variant,p.Val71Asp,ENST00000524761,;FHAD1,missense_variant,p.Val185Asp,ENST00000401090,;FHAD1,missense_variant,p.Val515Asp,ENST00000417793,;FHAD1,missense_variant,p.Val515Asp,ENST00000358897,;FHAD1,missense_variant,p.Val120Asp,ENST00000375995,;FHAD1,missense_variant,p.Val515Asp,ENST00000375998,;FHAD1,missense_variant,p.Val515Asp,ENST00000375999,;RP3-467K16.2,non_coding_transcript_exon_variant,,ENST00000428747,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000472131,;FHAD1,non_coding_transcript_exon_variant,,ENST00000375996,;FHAD1,non_coding_transcript_exon_variant,,ENST00000459961,;	366	339	221	SUCCESS
SPTA1	6708	.	GRCh37	1	158654957	158654957	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	30	107	0	ENST00000368147.4:c.205A>G	p.Ile69Val	p.I69V	ENST00000368147	NM_003126.2	69	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS41423.1	205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGATCCACT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	2/52	.	.	.	.	.	.	.	.	.	2/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.02)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Ile69Val,ENST00000368147,;SPTA1,intron_variant,,ENST00000467387,;	386	107	163	SUCCESS
RSC1A1	6248	.	GRCh37	1	15986851	15986851	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs186136042	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	147	0	ENST00000345034.1:c.488G>A	p.Ser163Asn	p.S163N	ENST00000345034	NM_006511.1	163	aGt/aAt	0	.	A:0	.	A:0.0014	.	A	S/N	protein_coding	YES	CCDS161.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAGTGACC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15397:SF2,hmmpanther:PTHR15397	A:0	.	ENSP00000341963	A:0	1/1	.	.	.	.	.	.	.	.	rs186136042	1/1	PASS	ENST00000345034	Transcript	.	A:0.0002	ENSG00000215695	10458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	A:0	tolerated(1)	.	RSCA1_HUMAN	RSC1A1	HGNC	.	.	UPI00000715AC	SNV	RSC1A1,missense_variant,p.Ser163Asn,ENST00000345034,;DDI2,3_prime_UTR_variant,,ENST00000480945,;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,downstream_gene_variant,,ENST00000548451,;	488	147	92	SUCCESS
ATP1A4	480	.	GRCh37	1	160137138	160137138	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757229274	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	17	102	0	ENST00000368081.4:c.1427C>A	p.Ala476Glu	p.A476E	ENST00000368081	NM_144699.3	476	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS1197.1	1427	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCGGAGA	NONE	byFrequency	.	hmmpanther:PTHR24093:SF233,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000357060	.	10/22	.	.	.	.	.	.	.	.	rs757229274	10/22	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	tolerated(0.79)	.	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,missense_variant,p.Ala476Glu,ENST00000368081,;ATP1A4,upstream_gene_variant,,ENST00000418334,;ATP1A4,missense_variant,p.Ala476Glu,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	1898	102	132	SUCCESS
SELE	6401	.	GRCh37	1	169700980	169700980	+	synonymous_variant	Silent	SNP	C	C	T	rs762955100	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	17	78	0	ENST00000333360.7:c.525G>A	p.Glu175=	p.E175=	ENST00000333360	NM_000450.2	175	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS1283.1	525	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCTCACA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR19325:SF336,hmmpanther:PTHR19325,Gene3D:3.10.100.10,SMART_domains:SM00181	.	.	ENSP00000331736	.	4/14	.	.	.	.	.	.	.	.	rs762955100	4/14	PASS	ENST00000333360	Transcript	.	.	ENSG00000007908	10718	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYAM2_HUMAN	SELE	HGNC	.	.	UPI000012E44A	SNV	SELE,synonymous_variant,p.%3D,ENST00000367776,;SELE,synonymous_variant,p.%3D,ENST00000367779,;SELE,synonymous_variant,p.%3D,ENST00000367775,;SELE,synonymous_variant,p.%3D,ENST00000333360,;SELE,synonymous_variant,p.%3D,ENST00000367782,;SELE,synonymous_variant,p.%3D,ENST00000367781,;SELE,synonymous_variant,p.%3D,ENST00000367780,;SELE,synonymous_variant,p.%3D,ENST00000367774,;SELE,synonymous_variant,p.%3D,ENST00000367777,;SELE,downstream_gene_variant,,ENST00000609271,;C1orf112,intron_variant,,ENST00000498289,;SELE,non_coding_transcript_exon_variant,,ENST00000461085,;	665	78	106	SUCCESS
KIAA0040	9674	.	GRCh37	1	175129943	175129943	+	synonymous_variant	Silent	SNP	C	C	T	rs200245770	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	38	0	ENST00000545251.2:c.207G>A	p.Lys69=	p.K69=	ENST00000545251		69	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	.	207	RADIA|SOMATICSNIPER|VARSCANS	.	TTCTTCTTCTT	BUFFER|p.K73E|c.217A>G|5	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000464040	.	3/3	.	.	.	.	.	.	.	.	rs200245770,rs767648441	3/3	PASS	ENST00000545251	Transcript	.	.	ENSG00000235750	28950	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	KIAA0040	HGNC	J3QR46_HUMAN	.	UPI0000203C32	SNV	KIAA0040,synonymous_variant,p.%3D,ENST00000444639,;KIAA0040,synonymous_variant,p.%3D,ENST00000545251,;KIAA0040,synonymous_variant,p.%3D,ENST00000423313,;KIAA0040,downstream_gene_variant,,ENST00000567124,;KIAA0040,downstream_gene_variant,,ENST00000563563,;	631	38	61	SUCCESS
CFH	3075	.	GRCh37	1	196654311	196654311	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766408580	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	203	263	1	ENST00000367429.4:c.908G>T	p.Arg303Leu	p.R303L	ENST00000367429	NM_000186.3	303	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1385.1	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGGGGAA	NONE	byFrequency	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356399	.	7/22	.	.	.	.	.	.	.	.	rs766408580,CM086802	7/22	PASS	ENST00000367429	Transcript	.	.	ENSG00000000971	4883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.031)	.	tolerated(0.12)	.	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	SNV	CFH,missense_variant,p.Arg239Leu,ENST00000359637,;CFH,missense_variant,p.Arg303Leu,ENST00000367429,;CFH,missense_variant,p.Arg303Leu,ENST00000439155,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	1148	264	284	SUCCESS
PTPRC	5788	.	GRCh37	1	198713253	198713253	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	23	123	0	ENST00000442510.2:c.2768C>T	p.Ser923Phe	p.S923F	ENST00000442510		923	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS1397.2	2768	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTCTGAAT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,PIRSF_domain:PIRSF002004,Superfamily_domains:SSF52799	.	.	ENSP00000411355	.	26/33	.	.	.	.	.	.	.	.	.	26/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Ser760Phe,ENST00000594404,;PTPRC,missense_variant,p.Ser762Phe,ENST00000348564,;PTPRC,missense_variant,p.Ser873Phe,ENST00000352140,;PTPRC,missense_variant,p.Ser921Phe,ENST00000367376,;PTPRC,missense_variant,p.Ser923Phe,ENST00000442510,;	2909	123	161	SUCCESS
LAD1	3898	.	GRCh37	1	201355554	201355554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	49	139	1	ENST00000391967.2:c.935C>A	p.Ala312Asp	p.A312D	ENST00000391967	NM_005558.3	312	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1410.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCCCTT	NONE	.	.	hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144	.	.	ENSP00000375829	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000391967	Transcript	.	.	ENSG00000159166	6472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.16)	.	LAD1_HUMAN	LAD1	HGNC	.	.	UPI000006CD59	SNV	LAD1,missense_variant,p.Ala312Asp,ENST00000391967,;LAD1,missense_variant,p.Ala326Asp,ENST00000367313,;LAD1,upstream_gene_variant,,ENST00000503578,;LAD1,upstream_gene_variant,,ENST00000488842,;LAD1,upstream_gene_variant,,ENST00000475136,;	1237	140	153	SUCCESS
TP53BP2	7159	.	GRCh37	1	223984262	223984262	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1226461600	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	32	0	ENST00000343537.7:c.1979A>G	p.Gln660Arg	p.Q660R	ENST00000343537	NM_001031685.2	660	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS44319.1	1979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTGGGCA	NONE	.	.	hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131	.	.	ENSP00000341957	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	tolerated(0.06)	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,missense_variant,p.Gln660Arg,ENST00000343537,;TP53BP2,missense_variant,p.Gln531Arg,ENST00000391878,;TP53BP2,5_prime_UTR_variant,,ENST00000391879,;TP53BP2,intron_variant,,ENST00000494100,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,downstream_gene_variant,,ENST00000489310,;TP53BP2,3_prime_UTR_variant,,ENST00000464656,;TP53BP2,3_prime_UTR_variant,,ENST00000483398,;TP53BP2,downstream_gene_variant,,ENST00000490896,;	2271	32	46	SUCCESS
FBXO28	23219	.	GRCh37	1	224345243	224345243	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	27	167	0	ENST00000366862.5:c.902A>G	p.Gln301Arg	p.Q301R	ENST00000366862	NM_015176.3	301	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS1539.1	902	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAGAAAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13252	.	.	ENSP00000355827	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000366862	Transcript	.	.	ENSG00000143756	29046	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.968)	.	tolerated(0.22)	.	FBX28_HUMAN	FBXO28	HGNC	B4E0H5_HUMAN	.	UPI000006F1C1	SNV	FBXO28,missense_variant,p.Gln301Arg,ENST00000366862,;FBXO28,3_prime_UTR_variant,,ENST00000424254,;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	945	167	222	SUCCESS
ARF1	375	.	GRCh37	1	228285573	228285573	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	244	37	218	0	ENST00000272102.5:c.405T>G	p.Asn135Lys	p.N135K	ENST00000272102	NM_001658.3	135	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS1565.1	405	RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATGCGGC	BUFFER|p.A136V|c.407C>T|3	.	.	Prints_domain:PR00328,Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,SMART_domains:SM00175,Pfam_domain:PF00025,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF118,PROSITE_profiles:PS51417	.	.	ENSP00000440005	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000541182	Transcript	.	.	ENSG00000143761	652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated_low_confidence(0.25)	.	ARF1_HUMAN	ARF1	HGNC	.	.	UPI0000021911	SNV	ARF1,missense_variant,p.Asn135Lys,ENST00000541182,;ARF1,missense_variant,p.Asn135Lys,ENST00000540651,;ARF1,missense_variant,p.Asn135Lys,ENST00000272102,;C1orf35,downstream_gene_variant,,ENST00000272139,;MIR3620,downstream_gene_variant,,ENST00000584469,;ARF1,non_coding_transcript_exon_variant,,ENST00000478336,;ARF1,non_coding_transcript_exon_variant,,ENST00000473949,;ARF1,non_coding_transcript_exon_variant,,ENST00000482962,;ARF1,non_coding_transcript_exon_variant,,ENST00000478424,;ARF1,non_coding_transcript_exon_variant,,ENST00000470670,;ARF1,non_coding_transcript_exon_variant,,ENST00000469235,;ARF1,non_coding_transcript_exon_variant,,ENST00000470558,;ARF1,non_coding_transcript_exon_variant,,ENST00000497165,;ARF1,intron_variant,,ENST00000477821,;C1orf35,downstream_gene_variant,,ENST00000491293,;C1orf35,downstream_gene_variant,,ENST00000472617,;ARF1,downstream_gene_variant,,ENST00000473546,;C1orf35,downstream_gene_variant,,ENST00000469781,;ARF1,downstream_gene_variant,,ENST00000477451,;C1orf35,downstream_gene_variant,,ENST00000492757,;C1orf35,downstream_gene_variant,,ENST00000465199,;C1orf35,downstream_gene_variant,,ENST00000485896,;ARF1,downstream_gene_variant,,ENST00000490705,;	667	219	282	SUCCESS
TRIM67	440730	.	GRCh37	1	231349591	231349591	+	synonymous_variant	Silent	SNP	C	C	T	rs200465476	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	263	56	231	1	ENST00000366653.5:c.2154C>T	p.Thr718=	p.T718=	ENST00000366653		718	acC/acT	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS44333.1	2154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCGTGGG	NONE	byCluster	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	T:0.0001	ENSP00000355613	.	9/10	.	.	.	.	.	.	.	.	rs200465476	9/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	SNV	TRIM67,synonymous_variant,p.%3D,ENST00000444294,;TRIM67,synonymous_variant,p.%3D,ENST00000366652,;TRIM67,synonymous_variant,p.%3D,ENST00000449018,;TRIM67,synonymous_variant,p.%3D,ENST00000366653,;	2154	232	320	SUCCESS
TCEB3	0	.	GRCh37	1	24070016	24070016	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	43	0	ENST00000418390.2:c.101A>G	p.Gln34Arg	p.Q34R	ENST00000418390	NM_003198.2	34	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS239.2	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAAGTTG	NONE	.	.	PROSITE_profiles:PS51319,hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141,Gene3D:1.20.930.10,SMART_domains:SM00509,Superfamily_domains:SSF47676	.	.	ENSP00000395574	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000418390	Transcript	.	.	ENSG00000011007	11620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.63)	.	tolerated(0.19)	.	ELOA1_HUMAN	TCEB3	HGNC	.	.	UPI000181BA17	SNV	TCEB3,missense_variant,p.Gln34Arg,ENST00000418390,;TCEB3,missense_variant,p.Gln8Arg,ENST00000609199,;TCEB3,upstream_gene_variant,,ENST00000487554,;	372	43	24	SUCCESS
TEKT2	27285	.	GRCh37	1	36551578	36551578	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	72	215	1	ENST00000207457.3:c.424G>A	p.Glu142Lys	p.E142K	ENST00000207457	NM_014466.2	142	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS401.1	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGAGGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF7	.	.	ENSP00000207457	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000207457	Transcript	.	.	ENSG00000092850	11725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.41)	.	TEKT2_HUMAN	TEKT2	HGNC	.	.	UPI0000001C3D	SNV	TEKT2,missense_variant,p.Glu142Lys,ENST00000207457,;ADPRHL2,upstream_gene_variant,,ENST00000373178,;TEKT2,upstream_gene_variant,,ENST00000473120,;RP4-665N4.4,upstream_gene_variant,,ENST00000446354,;TEKT2,3_prime_UTR_variant,,ENST00000469024,;RP4-665N4.4,upstream_gene_variant,,ENST00000437804,;	551	216	147	SUCCESS
MFSD2A	84879	.	GRCh37	1	40422841	40422841	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779813409	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	27	95	0	ENST00000372809.5:c.176C>T	p.Thr59Met	p.T59M	ENST00000372809	NM_001136493.1	59	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS44118.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29	.	.	ENSP00000361895	.	2/14	.	.	.	.	.	.	.	.	rs779813409	2/14	PASS	ENST00000372809	Transcript	.	.	ENSG00000168389	25897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MFS2A_HUMAN	MFSD2A	HGNC	Q71RE4_HUMAN,E7EPI8_HUMAN	.	UPI0000072562	SNV	MFSD2A,missense_variant,p.Thr57Met,ENST00000434861,;MFSD2A,missense_variant,p.Thr59Met,ENST00000372809,;MFSD2A,missense_variant,p.Thr59Met,ENST00000372811,;MFSD2A,intron_variant,,ENST00000420632,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000483824,;MFSD2A,upstream_gene_variant,,ENST00000469745,;	319	95	54	SUCCESS
EBNA1BP2	10969	.	GRCh37	1	43637224	43637224	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	63	126	0	ENST00000236051.2:c.249T>G	p.Ser83=	p.S83=	ENST00000236051	NM_006824.2	83	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS53308.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCAGATCC	NONE	.	.	hmmpanther:PTHR13028,hmmpanther:PTHR13028:SF0,Pfam_domain:PF05890	.	.	ENSP00000407323	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000431635	Transcript	.	.	ENSG00000117395	15531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EBNA1BP2	HGNC	Q6IB29_HUMAN,H7C2Q8_HUMAN	.	UPI0000204E6D	SNV	EBNA1BP2,synonymous_variant,p.%3D,ENST00000236051,;EBNA1BP2,synonymous_variant,p.%3D,ENST00000431635,;WDR65,upstream_gene_variant,,ENST00000529956,;WDR65,upstream_gene_variant,,ENST00000528956,;WDR65,upstream_gene_variant,,ENST00000372492,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000483082,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000491223,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000472982,;EBNA1BP2,upstream_gene_variant,,ENST00000463906,;EBNA1BP2,downstream_gene_variant,,ENST00000461557,;WDR65,upstream_gene_variant,,ENST00000533339,;WDR65,upstream_gene_variant,,ENST00000525227,;	563	126	109	SUCCESS
SSBP3	23648	.	GRCh37	1	54871734	54871734	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs188330108	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	26	0	ENST00000371320.3:c.-53A>G		p.*18*	ENST00000371320	NM_145716.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS591.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCTACCGC	NONE	by1000G	.	.	.	.	ENSP00000360371	.	1/18	.	.	.	.	.	.	.	.	rs188330108	1/18	PASS	ENST00000371320	Transcript	.	.	ENSG00000157216	15674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSBP3_HUMAN	SSBP3	HGNC	Q9NW25_HUMAN,Q9BT57_HUMAN	.	UPI0000135F96	SNV	SSBP3,5_prime_UTR_variant,,ENST00000371320,;SSBP3,5_prime_UTR_variant,,ENST00000357475,;SSBP3,intron_variant,,ENST00000525990,;SSBP3,upstream_gene_variant,,ENST00000417664,;SSBP3,upstream_gene_variant,,ENST00000371319,;SSBP3,upstream_gene_variant,,ENST00000533946,;	359	26	20	SUCCESS
SSBP3	23648	.	GRCh37	1	54871735	54871735	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs1435546926	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	26	0	ENST00000371320.3:c.-54T>C		p.*18*	ENST00000371320	NM_145716.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS591.1	.	SOMATICSNIPER|VARSCANS	.	CCGCTACCGCT	NONE	.	.	.	.	.	ENSP00000360371	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000371320	Transcript	.	.	ENSG00000157216	15674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSBP3_HUMAN	SSBP3	HGNC	Q9NW25_HUMAN,Q9BT57_HUMAN	.	UPI0000135F96	SNV	SSBP3,5_prime_UTR_variant,,ENST00000371320,;SSBP3,5_prime_UTR_variant,,ENST00000357475,;SSBP3,intron_variant,,ENST00000525990,;SSBP3,upstream_gene_variant,,ENST00000417664,;SSBP3,upstream_gene_variant,,ENST00000371319,;SSBP3,upstream_gene_variant,,ENST00000533946,;	358	26	20	SUCCESS
TAS1R1	80835	.	GRCh37	1	6631179	6631179	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	99	0	ENST00000333172.6:c.402C>T	p.Leu134=	p.L134=	ENST00000333172	NM_138697.3	134	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS81.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCACTA	NONE	.	.	Prints_domain:PR00592,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	.	.	ENSP00000331867	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,synonymous_variant,p.%3D,ENST00000411823,;TAS1R1,synonymous_variant,p.%3D,ENST00000415267,;TAS1R1,synonymous_variant,p.%3D,ENST00000351136,;TAS1R1,synonymous_variant,p.%3D,ENST00000333172,;TAS1R1,synonymous_variant,p.%3D,ENST00000328191,;	595	99	82	SUCCESS
FAM73A	0	.	GRCh37	1	78245389	78245389	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	75	0	ENST00000370791.3:c.49G>C	p.Gly17Arg	p.G17R	ENST00000370791	NM_001270384.1	17	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS681.1	49	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGGCAGG	NONE	.	.	.	.	.	ENSP00000359827	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000370791	Transcript	.	.	ENSG00000180488	24741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	FA73A_HUMAN	FAM73A	HGNC	R4GMP2_HUMAN,B7ZLZ8_HUMAN	.	UPI00000722C6	SNV	FAM73A,missense_variant,p.Gly17Arg,ENST00000443751,;FAM73A,missense_variant,p.Gly17Arg,ENST00000370791,;FAM73A,upstream_gene_variant,,ENST00000477627,;RNA5SP21,upstream_gene_variant,,ENST00000410917,;RP4-706L14.2,upstream_gene_variant,,ENST00000431536,;	81	75	54	SUCCESS
CLCA1	1179	.	GRCh37	1	86965557	86965557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	170	0	ENST00000234701.3:c.2574C>A	p.Asn858Lys	p.N858K	ENST00000234701		858	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS709.1	2574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAACATTGC	NONE	.	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	.	.	ENSP00000234701	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Asn858Lys,ENST00000234701,;CLCA1,missense_variant,p.Asn858Lys,ENST00000394711,;	2925	170	116	SUCCESS
CLCA1	1179	.	GRCh37	1	86965558	86965558	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	171	0	ENST00000234701.3:c.2575A>G	p.Ile859Val	p.I859V	ENST00000234701		859	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS709.1	2575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACATTGCA	NONE	.	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	.	.	ENSP00000234701	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.05)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Ile859Val,ENST00000234701,;CLCA1,missense_variant,p.Ile859Val,ENST00000394711,;	2926	171	116	SUCCESS
GBP4	115361	.	GRCh37	1	89664581	89664581	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	35	0	ENST00000355754.6:c.-64G>T		p.*22*	ENST00000355754	NM_052941.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS721.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCCGGAT	NONE	.	.	.	.	.	ENSP00000359490	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000355754	Transcript	.	.	ENSG00000162654	20480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBP4_HUMAN	GBP4	HGNC	B4E2F1_HUMAN	.	UPI000013E1A4	SNV	GBP4,5_prime_UTR_variant,,ENST00000355754,;	35	35	28	SUCCESS
GGT7	2686	.	GRCh37	20	33450709	33450709	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777119607	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	34	101	1	ENST00000336431.5:c.465G>C	p.Glu155Asp	p.E155D	ENST00000336431	NM_178026.2	155	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS13242.2	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCTCGAT	NONE	.	.	hmmpanther:PTHR11686:SF18,hmmpanther:PTHR11686,Pfam_domain:PF01019,Superfamily_domains:SSF56235	.	.	ENSP00000338964	.	3/15	.	.	.	.	.	.	.	.	rs777119607	3/15	PASS	ENST00000336431	Transcript	.	.	ENSG00000131067	4259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.32)	.	GGT7_HUMAN	GGT7	HGNC	A4FU32_HUMAN,A0PJJ9_HUMAN	.	UPI000004C2AB	SNV	GGT7,missense_variant,p.Glu172Asp,ENST00000427420,;GGT7,missense_variant,p.Glu155Asp,ENST00000336431,;	510	102	79	SUCCESS
GGT7	2686	.	GRCh37	20	33460489	33460489	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs981539249	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	91	214	0	ENST00000336431.5:c.130C>T	p.Arg44Cys	p.R44C	ENST00000336431	NM_178026.2	44	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13242.2	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCGGCCCC	NONE	.	.	.	.	.	ENSP00000338964	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000336431	Transcript	.	.	ENSG00000131067	4259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	deleterious_low_confidence(0)	.	GGT7_HUMAN	GGT7	HGNC	A4FU32_HUMAN,A0PJJ9_HUMAN	.	UPI000004C2AB	SNV	GGT7,missense_variant,p.Arg44Cys,ENST00000336431,;GGT7,missense_variant,p.Arg44Cys,ENST00000427420,;ACSS2,upstream_gene_variant,,ENST00000484354,;ACSS2,upstream_gene_variant,,ENST00000360596,;ACSS2,upstream_gene_variant,,ENST00000493805,;ACSS2,upstream_gene_variant,,ENST00000253382,;ACSS2,upstream_gene_variant,,ENST00000488172,;ACSS2,upstream_gene_variant,,ENST00000473172,;ACSS2,upstream_gene_variant,,ENST00000336325,;ACSS2,intron_variant,,ENST00000490046,;ACSS2,upstream_gene_variant,,ENST00000461051,;ACSS2,upstream_gene_variant,,ENST00000497927,;ACSS2,upstream_gene_variant,,ENST00000481971,;ACSS2,upstream_gene_variant,,ENST00000476922,;ACSS2,upstream_gene_variant,,ENST00000467019,;ACSS2,upstream_gene_variant,,ENST00000480274,;ACSS2,upstream_gene_variant,,ENST00000475459,;ACSS2,upstream_gene_variant,,ENST00000481284,;ACSS2,upstream_gene_variant,,ENST00000480978,;ACSS2,upstream_gene_variant,,ENST00000477932,;	175	214	205	SUCCESS
AAR2	25980	.	GRCh37	20	34828015	34828015	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147662826	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	45	147	0	ENST00000320849.4:c.225G>T	p.Met75Ile	p.M75I	ENST00000320849	NM_001271874.1	75	atG/atT	0	C:0	.	.	.	.	T	M/I	protein_coding	YES	CCDS13273.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTATGGGTTT	NONE	byCluster	.	hmmpanther:PTHR12689,Pfam_domain:PF05282	.	C:0.0001	ENSP00000363043	.	2/4	.	.	.	.	.	.	.	.	rs147662826	2/4	PASS	ENST00000373932	Transcript	.	.	ENSG00000131043	15886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.25)	.	AAR2_HUMAN	AAR2	HGNC	.	.	UPI00001285C6	SNV	AAR2,missense_variant,p.Met75Ile,ENST00000320849,;AAR2,missense_variant,p.Met75Ile,ENST00000373932,;AAR2,missense_variant,p.Met75Ile,ENST00000397286,;	571	147	120	SUCCESS
CDH22	64405	.	GRCh37	20	44806803	44806803	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747038613	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	89	0	ENST00000372262.3:c.1697G>T	p.Gly566Val	p.G566V	ENST00000372262		566	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13395.1	1697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCCCACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000361336	.	10/11	.	.	.	.	.	.	.	.	rs747038613	10/11	PASS	ENST00000372262	Transcript	.	.	ENSG00000149654	13251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0.03)	.	CAD22_HUMAN	CDH22	HGNC	Q49AS4_HUMAN	.	UPI0000126DC0	SNV	CDH22,missense_variant,p.Gly566Val,ENST00000372262,;CDH22,missense_variant,p.Gly566Val,ENST00000537909,;	2098	89	66	SUCCESS
ZMYND8	23613	.	GRCh37	20	45905296	45905296	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	41	152	0	ENST00000311275.7:c.1182G>A	p.Gln394=	p.Q394=	ENST00000311275	NM_001281783.1	394	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13405.1	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTGCTT	NONE	.	.	Superfamily_domains:SSF63748,hmmpanther:PTHR24102:SF13,hmmpanther:PTHR24102	.	.	ENSP00000418210	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000461685	Transcript	.	.	ENSG00000101040	9397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKCB1_HUMAN	ZMYND8	HGNC	Q5TH08_HUMAN,Q5TH07_HUMAN	.	UPI00001BDF63	SNV	ZMYND8,synonymous_variant,p.%3D,ENST00000446994,;ZMYND8,synonymous_variant,p.%3D,ENST00000372023,;ZMYND8,synonymous_variant,p.%3D,ENST00000355972,;ZMYND8,synonymous_variant,p.%3D,ENST00000360911,;ZMYND8,synonymous_variant,p.%3D,ENST00000262975,;ZMYND8,synonymous_variant,p.%3D,ENST00000311275,;ZMYND8,synonymous_variant,p.%3D,ENST00000536340,;ZMYND8,synonymous_variant,p.%3D,ENST00000467200,;ZMYND8,synonymous_variant,p.%3D,ENST00000540497,;ZMYND8,synonymous_variant,p.%3D,ENST00000352431,;ZMYND8,synonymous_variant,p.%3D,ENST00000396281,;ZMYND8,synonymous_variant,p.%3D,ENST00000458360,;ZMYND8,synonymous_variant,p.%3D,ENST00000471951,;ZMYND8,synonymous_variant,p.%3D,ENST00000461685,;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;	1242	152	158	SUCCESS
KCNJ15	3772	.	GRCh37	21	39671702	39671702	+	synonymous_variant	Silent	SNP	G	G	A	rs765908603	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	52	0	ENST00000328656.4:c.519G>A	p.Lys173=	p.K173=	ENST00000328656	NM_002243.4	173	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS13656.1	519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGCGGGC	NONE	byFrequency	.	hmmpanther:PTHR11767:SF20,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000331698	.	4/4	.	.	.	.	.	.	.	.	rs765908603	4/4	PASS	ENST00000328656	Transcript	.	.	ENSG00000157551	6261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK15_HUMAN	KCNJ15	HGNC	F8VX74_HUMAN,F8VW46_HUMAN,E7EWV2_HUMAN,E7EPG3_HUMAN,C9JTX1_HUMAN,A8MVK1_HUMAN,A8MTZ5_HUMAN	.	UPI000006E337	SNV	KCNJ15,synonymous_variant,p.%3D,ENST00000328656,;KCNJ15,synonymous_variant,p.%3D,ENST00000398930,;KCNJ15,synonymous_variant,p.%3D,ENST00000438657,;KCNJ15,synonymous_variant,p.%3D,ENST00000398938,;KCNJ15,synonymous_variant,p.%3D,ENST00000398934,;KCNJ15,synonymous_variant,p.%3D,ENST00000398932,;KCNJ15,downstream_gene_variant,,ENST00000398928,;KCNJ15,downstream_gene_variant,,ENST00000398927,;KCNJ15,downstream_gene_variant,,ENST00000398925,;KCNJ15,downstream_gene_variant,,ENST00000549805,;KCNJ15,downstream_gene_variant,,ENST00000417042,;KCNJ15,downstream_gene_variant,,ENST00000548700,;KCNJ15,downstream_gene_variant,,ENST00000419868,;KCNJ15,downstream_gene_variant,,ENST00000549932,;KCNJ15,downstream_gene_variant,,ENST00000547595,;KCNJ15,downstream_gene_variant,,ENST00000549158,;KCNJ15,downstream_gene_variant,,ENST00000547341,;KCNJ15,downstream_gene_variant,,ENST00000551422,;KCNJ15,downstream_gene_variant,,ENST00000443341,;	822	52	31	SUCCESS
HSFY1P1	27437	.	GRCh37	22	17308610	17308610	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	14	0	ENST00000425038.1:n.247A>G		p.*83*	ENST00000425038				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	TTGATAAAAAG	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000425038	Transcript	.	.	ENSG00000229027	1846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HSFY1P1	HGNC	.	.	.	SNV	HSFY1P1,non_coding_transcript_exon_variant,,ENST00000425038,;HSFY1P1,non_coding_transcript_exon_variant,,ENST00000423928,;	247	14	11	SUCCESS
DGCR14	0	.	GRCh37	22	19126677	19126677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	38	0	ENST00000252137.6:c.817G>A	p.Ala273Thr	p.A273T	ENST00000252137	NM_022719.2	273	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13756.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCATTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12940,Pfam_domain:PF09751	.	.	ENSP00000252137	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000252137	Transcript	.	.	ENSG00000100056	16817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	DGC14_HUMAN	DGCR14	HGNC	.	.	UPI0000129227	SNV	DGCR14,missense_variant,p.Ala273Thr,ENST00000252137,;DGCR14,missense_variant,p.Ala273Thr,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;DGCR14,downstream_gene_variant,,ENST00000469466,;	861	38	27	SUCCESS
GALNT13	114805	.	GRCh37	2	155115572	155115572	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	26	133	0	ENST00000392825.3:c.896G>T	p.Arg299Ile	p.R299I	ENST00000392825	NM_052917.2	299	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS2199.1	896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAGAAACT	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21	.	.	ENSP00000376570	.	8/13	.	.	.	.	.	.	.	.	COSM3837084,COSM3837085	8/13	PASS	ENST00000392825	Transcript	.	.	ENSG00000144278	23242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.229)	.	deleterious(0)	1,1	GLT13_HUMAN	GALNT13	HGNC	Q68VI8_HUMAN	.	UPI0000051E22	SNV	GALNT13,missense_variant,p.Arg299Ile,ENST00000392825,;GALNT13,missense_variant,p.Arg299Ile,ENST00000409237,;GALNT13,non_coding_transcript_exon_variant,,ENST00000487047,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;	1463	134	131	SUCCESS
KCNJ3	3760	.	GRCh37	2	155711536	155711536	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	39	180	0	ENST00000295101.2:c.1217T>A	p.Ile406Asn	p.I406N	ENST00000295101	NM_002239.3	406	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS2200.1	1217	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATTACTG	NONE	.	.	hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767,PIRSF_domain:PIRSF005465,Prints_domain:PR01327	.	.	ENSP00000295101	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295101	Transcript	.	.	ENSG00000162989	6264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.429)	.	tolerated_low_confidence(0.06)	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,missense_variant,p.Ile406Asn,ENST00000295101,;KCNJ3,3_prime_UTR_variant,,ENST00000544049,;KCNJ3,non_coding_transcript_exon_variant,,ENST00000493505,;	1694	180	237	SUCCESS
SCN1A	6323	.	GRCh37	2	166847916	166847917	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	134	16	103	0	ENST00000303395.4:c.5868dup	p.Glu1957ArgfsTer6	p.E1957Rfs*6	ENST00000303395		1956	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS54413.1	5868-5869	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTTCTTTTA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	.	ENSP00000303540	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	insertion	SCN1A,frameshift_variant,p.Glu1929ArgfsTer6,ENST00000409050,;SCN1A,frameshift_variant,p.Glu1957ArgfsTer6,ENST00000423058,;SCN1A,frameshift_variant,p.Glu1957ArgfsTer6,ENST00000303395,;SCN1A,frameshift_variant,p.Glu1946ArgfsTer6,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;SCN1A,downstream_gene_variant,,ENST00000473295,;	5868-5869	103	150	SUCCESS
KLHL41	10324	.	GRCh37	2	170366494	170366494	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151212497	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	31	145	0	ENST00000284669.1:c.206C>T	p.Ala69Val	p.A69V	ENST00000284669	NM_006063.2	69	gCg/gTg	0	T:0.0009	.	.	.	.	T	A/V	protein_coding	YES	CCDS2234.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCGAAAA	NONE	byCluster	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	T:0	ENSP00000284669	.	1/6	.	.	.	.	.	.	.	.	rs151212497,COSM170398	1/6	PASS	ENST00000284669	Transcript	.	.	ENSG00000239474	16905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.064)	.	tolerated(0.31)	0,1	KLH41_HUMAN	KLHL41	HGNC	.	.	UPI0000000DC5	SNV	KLHL41,missense_variant,p.Ala69Val,ENST00000284669,;RP11-724O16.1,intron_variant,,ENST00000513963,;BBS5,intron_variant,,ENST00000554017,;BBS5,downstream_gene_variant,,ENST00000392663,;BBS5,downstream_gene_variant,,ENST00000295240,;KLHL41,upstream_gene_variant,,ENST00000463400,;KLHL41,upstream_gene_variant,,ENST00000480330,;BBS5,downstream_gene_variant,,ENST00000472667,;	283	145	125	SUCCESS
KLHL23	151230	.	GRCh37	2	170592146	170592146	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1256653928	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	27	215	0	ENST00000272797.4:c.622A>G	p.Thr208Ala	p.T208A	ENST00000272797	NM_001199290.1	208	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2236.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGACTGCT	NONE	.	.	hmmpanther:PTHR24412:SF182,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000376419	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000392647	Transcript	.	.	ENSG00000213160	27506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	KLH23_HUMAN	KLHL23	HGNC	S4R452_HUMAN,S4R3P4_HUMAN	.	UPI000006D999	SNV	KLHL23,missense_variant,p.Thr29Ala,ENST00000437875,;KLHL23,missense_variant,p.Thr208Ala,ENST00000392647,;KLHL23,missense_variant,p.Thr208Ala,ENST00000272797,;KLHL23,intron_variant,,ENST00000602521,;KLHL23,intron_variant,,ENST00000498202,;	866	215	177	SUCCESS
TTN	7273	.	GRCh37	2	179665283	179665283	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750730828	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	15	107	0	ENST00000591111.1:c.422G>A	p.Gly141Glu	p.G141E	ENST00000591111		141	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS59435.1	422	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTCCATCC	BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3,BUFFER|p.R139W|c.415C>T|3	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	4/363	.	.	.	.	.	.	.	.	rs750730828	4/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Gly141Glu,ENST00000359218,;TTN,missense_variant,p.Gly141Glu,ENST00000342175,;TTN,missense_variant,p.Gly141Glu,ENST00000342992,;TTN,missense_variant,p.Gly141Glu,ENST00000591111,;TTN,missense_variant,p.Gly141Glu,ENST00000589042,;TTN,missense_variant,p.Gly141Glu,ENST00000360870,;TTN,missense_variant,p.Gly141Glu,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;	647	107	135	SUCCESS
ZNF804A	91752	.	GRCh37	2	185802803	185802803	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	15	107	0	ENST00000302277.6:c.2680G>A	p.Glu894Lys	p.E894K	ENST00000302277	NM_194250.1	894	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2291.1	2680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGAAACT	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.85)	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.Glu894Lys,ENST00000302277,;	3274	107	103	SUCCESS
XRCC5	7520	.	GRCh37	2	217006004	217006004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	116	0	ENST00000392132.2:c.1438A>G	p.Thr480Ala	p.T480A	ENST00000392132	NM_021141.3	480	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2402.1	1438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCACCAAA	NONE	.	.	Superfamily_domains:SSF100939,PIRSF_domain:PIRSF016570,Gene3D:1.10.1600.10,Pfam_domain:PF03730,hmmpanther:PTHR12604,hmmpanther:PTHR12604:SF3	.	.	ENSP00000375978	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000392133	Transcript	.	.	ENSG00000079246	12833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.3)	.	XRCC5_HUMAN	XRCC5	HGNC	Q53TC2_HUMAN,Q53T09_HUMAN,C9JZ81_HUMAN	.	UPI0000034133	SNV	XRCC5,missense_variant,p.Thr480Ala,ENST00000392132,;XRCC5,missense_variant,p.Thr480Ala,ENST00000392133,;XRCC5,non_coding_transcript_exon_variant,,ENST00000471649,;XRCC5,non_coding_transcript_exon_variant,,ENST00000460284,;	1899	116	86	SUCCESS
DES	1674	.	GRCh37	2	220283471	220283471	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	45	319	0	ENST00000373960.3:c.287C>T	p.Ala96Val	p.A96V	ENST00000373960	NM_001927.3	96	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33383.1	287	RADIA|MUTECT|MUSE|VARSCANS	.	CGACGCGGTGA	NONE	.	.	hmmpanther:PTHR23239:SF28,hmmpanther:PTHR23239,Pfam_domain:PF04732	.	.	ENSP00000363071	.	1/9	.	.	.	.	.	.	.	.	COSM1692039	1/9	PASS	ENST00000373960	Transcript	.	.	ENSG00000175084	2770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	tolerated(0.1)	1	DESM_HUMAN	DES	HGNC	Q53SB5_HUMAN,Q9GZR6_HUMAN,Q2PUK1_HUMAN,L7R9R4_HUMAN	.	UPI0000001603	SNV	DES,missense_variant,p.Ala96Val,ENST00000373960,;DES,upstream_gene_variant,,ENST00000492726,;DES,upstream_gene_variant,,ENST00000477226,;	373	319	242	SUCCESS
SPEG	10290	.	GRCh37	2	220348192	220348192	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	35	0	ENST00000312358.7:c.6007G>T	p.Ala2003Ser	p.A2003S	ENST00000312358	NM_005876.4	2003	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42824.1	6007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCTAGC	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Ala2003Ser,ENST00000312358,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	6139	35	28	SUCCESS
EPHA4	2043	.	GRCh37	2	222294720	222294720	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765523420	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	69	0	ENST00000281821.2:c.2648G>A	p.Arg883His	p.R883H	ENST00000281821	NM_004438.3	883	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2447.1	2648	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGCGGATG	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416	.	.	ENSP00000281821	.	15/18	.	.	.	.	.	.	.	.	rs765523420	15/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.873)	.	deleterious(0.02)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Arg883His,ENST00000281821,;EPHA4,missense_variant,p.Arg883His,ENST00000409854,;EPHA4,missense_variant,p.Arg832His,ENST00000392071,;EPHA4,missense_variant,p.Arg883His,ENST00000409938,;EPHA4,upstream_gene_variant,,ENST00000469354,;EPHA4,upstream_gene_variant,,ENST00000472696,;EPHA4,intron_variant,,ENST00000424339,;	2690	69	69	SUCCESS
USP40	55230	.	GRCh37	2	234465583	234465583	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748776669	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	48	149	0	ENST00000251722.6:c.464A>G	p.His155Arg	p.H155R	ENST00000251722		155	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS46547.1	500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATGACCG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000415434	.	4/31	.	.	.	.	.	.	.	.	rs748776669	4/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.316)	.	tolerated(0.14)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.His155Arg,ENST00000251722,;USP40,missense_variant,p.His155Arg,ENST00000427112,;USP40,missense_variant,p.His167Arg,ENST00000450966,;USP40,downstream_gene_variant,,ENST00000443711,;USP40,non_coding_transcript_exon_variant,,ENST00000484528,;USP40,non_coding_transcript_exon_variant,,ENST00000427947,;	500	149	153	SUCCESS
DNMT3A	1788	.	GRCh37	2	25467443	25467443	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	53	0	ENST00000264709.3:c.1633G>C	p.Glu545Gln	p.E545Q	ENST00000264709	NM_175629.2	545	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS33157.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCACGGC	BUFFER|p.G543C|c.1627G>T|10	.	.	PROSITE_profiles:PS51533,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068	.	.	ENSP00000264709	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	deleterious(0.02)	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,missense_variant,p.Glu545Gln,ENST00000321117,;DNMT3A,missense_variant,p.Glu322Gln,ENST00000402667,;DNMT3A,missense_variant,p.Glu356Gln,ENST00000380746,;DNMT3A,missense_variant,p.Glu545Gln,ENST00000264709,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000470983,;DNMT3A,downstream_gene_variant,,ENST00000496570,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,missense_variant,p.Glu545Gln,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000474807,;DNMT3A,downstream_gene_variant,,ENST00000484184,;DNMT3A,upstream_gene_variant,,ENST00000466601,;	1971	53	60	SUCCESS
GAREML	0	.	GRCh37	2	26407445	26407445	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	101	0	ENST00000401533.2:c.728T>A	p.Leu243Gln	p.L243Q	ENST00000401533	NM_001168241.1	243	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS54336.1	728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCTGGAGC	BUFFER|p.P242P|c.726G>A|3	.	.	hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5,Pfam_domain:PF12736	.	.	ENSP00000384593	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000401533	Transcript	.	.	ENSG00000157833	27172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	GAREL_HUMAN	GAREML	HGNC	.	.	UPI0000237273	SNV	GAREML,missense_variant,p.Leu243Gln,ENST00000401533,;GAREML,missense_variant,p.Leu166Gln,ENST00000407684,;GAREML,upstream_gene_variant,,ENST00000496070,;	858	101	96	SUCCESS
ITGB5	3693	.	GRCh37	3	124540166	124540166	+	synonymous_variant	Silent	SNP	G	G	A	rs185706140	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	108	0	ENST00000296181.4:c.936C>T	p.Asn312=	p.N312=	ENST00000296181	NM_002213.3	312	aaC/aaT	0	.	A:0	.	A:0	.	A	N	protein_coding	YES	CCDS3030.1	936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGGTTGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00327,SMART_domains:SM00187,Superfamily_domains:SSF53300	A:0	.	ENSP00000296181	A:0.001	6/15	.	.	.	.	.	.	.	.	rs185706140	6/15	PASS	ENST00000296181	Transcript	.	A:0.0002	ENSG00000082781	6160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,synonymous_variant,p.%3D,ENST00000496703,;ITGB5,synonymous_variant,p.%3D,ENST00000296181,;ITGB5,synonymous_variant,p.%3D,ENST00000481591,;ITGB5,intron_variant,,ENST00000488466,;ITGB5,non_coding_transcript_exon_variant,,ENST00000476988,;ITGB5,downstream_gene_variant,,ENST00000465464,;	1233	108	73	SUCCESS
DNAJB8	165721	.	GRCh37	3	128181523	128181523	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	102	0	ENST00000319153.3:c.566T>G	p.Ile189Ser	p.I189S	ENST00000319153	NM_153330.3	189	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS3048.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGATCATC	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242	.	.	ENSP00000417418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000469083	Transcript	.	.	ENSG00000179407	23699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	deleterious(0)	.	DNJB8_HUMAN	DNAJB8	HGNC	.	.	UPI0000129437	SNV	DNAJB8,missense_variant,p.Ile189Ser,ENST00000319153,;DNAJB8,missense_variant,p.Ile189Ser,ENST00000469083,;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;	3124	102	77	SUCCESS
ACPP	0	.	GRCh37	3	132071587	132071587	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	58	0	ENST00000351273.7:c.888A>C	p.Leu296=	p.L296=	ENST00000351273	NM_001134194.1	296	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS46916.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTACAGAT	BUFFER|p.Q297P|c.890A>C|3,BUFFER|p.Q297P|c.890A>C|3	.	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,PROSITE_patterns:PS00778,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254	.	.	ENSP00000323036	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,synonymous_variant,p.%3D,ENST00000351273,;ACPP,synonymous_variant,p.%3D,ENST00000475741,;ACPP,synonymous_variant,p.%3D,ENST00000336375,;ACPP,upstream_gene_variant,,ENST00000507647,;ACPP,non_coding_transcript_exon_variant,,ENST00000512463,;	938	58	58	SUCCESS
CEP70	80321	.	GRCh37	3	138289288	138289288	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	63	154	0	ENST00000264982.3:c.337A>G	p.Asn113Asp	p.N113D	ENST00000264982	NM_024491.2	113	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS3102.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATTAGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594	.	.	ENSP00000264982	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000264982	Transcript	.	.	ENSG00000114107	29972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.731)	.	deleterious(0.01)	.	CEP70_HUMAN	CEP70	HGNC	C9JZ04_HUMAN,C9J0F4_HUMAN	.	UPI000013D5A3	SNV	CEP70,missense_variant,p.Asn95Asp,ENST00000474781,;CEP70,missense_variant,p.Asn92Asp,ENST00000468900,;CEP70,missense_variant,p.Asn93Asp,ENST00000462419,;CEP70,missense_variant,p.Asn113Asp,ENST00000481834,;CEP70,missense_variant,p.Asn113Asp,ENST00000470159,;CEP70,missense_variant,p.Asn93Asp,ENST00000542237,;CEP70,missense_variant,p.Asn113Asp,ENST00000464035,;CEP70,missense_variant,p.Asn113Asp,ENST00000484888,;CEP70,missense_variant,p.Asn113Asp,ENST00000264982,;CEP70,intron_variant,,ENST00000489254,;CEP70,downstream_gene_variant,,ENST00000485115,;CEP70,non_coding_transcript_exon_variant,,ENST00000478673,;	604	154	138	SUCCESS
VWA5B2	90113	.	GRCh37	3	183953088	183953088	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	132	0	ENST00000426955.2:c.1093G>A	p.Ala365Thr	p.A365T	ENST00000426955	NM_138345.1	365	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54686.1	1093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGCACAC	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107,Pfam_domain:PF13768,Superfamily_domains:SSF53300	.	.	ENSP00000398688	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.27)	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Ala146Thr,ENST00000273794,;VWA5B2,missense_variant,p.Ala365Thr,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000474580,;VWA5B2,downstream_gene_variant,,ENST00000497229,;	1193	132	121	SUCCESS
CEP19	84984	.	GRCh37	3	196435517	196435517	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	84	0	ENST00000409690.3:c.24T>A	p.Thr8=	p.T8=	ENST00000409690	NM_032898.3	8	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43193.2	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCAGTGCA	NONE	.	.	hmmpanther:PTHR31539	.	.	ENSP00000387209	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000409690	Transcript	.	.	ENSG00000174007	28209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEP19_HUMAN	CEP19	HGNC	.	.	UPI0000071B37	SNV	CEP19,synonymous_variant,p.%3D,ENST00000409690,;CEP19,intron_variant,,ENST00000399942,;PIGX,intron_variant,,ENST00000426755,;PIGX,upstream_gene_variant,,ENST00000421265,;PIGX,upstream_gene_variant,,ENST00000451319,;PIGX,upstream_gene_variant,,ENST00000314118,;PIGX,upstream_gene_variant,,ENST00000296333,;PIGX,upstream_gene_variant,,ENST00000392391,;PIGX,upstream_gene_variant,,ENST00000541663,;RNU6-646P,downstream_gene_variant,,ENST00000364571,;PIGX,upstream_gene_variant,,ENST00000495440,;PIGX,upstream_gene_variant,,ENST00000457284,;PIGX,upstream_gene_variant,,ENST00000415832,;PIGX,upstream_gene_variant,,ENST00000453218,;	447	84	54	SUCCESS
ZNF197	10168	.	GRCh37	3	44674045	44674045	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	42	126	0	ENST00000344387.4:c.723G>A	p.Leu241=	p.L241=	ENST00000344387	NM_006991.3	241	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2717.1	723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGTACTG	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF280,PROSITE_profiles:PS50805	.	.	ENSP00000379370	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000396058	Transcript	.	.	ENSG00000186448	12988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN197_HUMAN	ZNF197	HGNC	C9JQH5_HUMAN	.	UPI000013C317	SNV	ZNF197,synonymous_variant,p.%3D,ENST00000396058,;ZNF197,synonymous_variant,p.%3D,ENST00000383745,;ZNF197,synonymous_variant,p.%3D,ENST00000344387,;ZNF197,synonymous_variant,p.%3D,ENST00000383744,;ZNF197,downstream_gene_variant,,ENST00000412641,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,3_prime_UTR_variant,,ENST00000334075,;	890	126	78	SUCCESS
SETD2	29072	.	GRCh37	3	47163348	47163348	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	111	0	ENST00000409792.3:c.2778del	p.Glu927LysfsTer3	p.E927Kfs*3	ENST00000409792	NM_014159.6	926	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS2749.2	2778	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTTCTTTCCC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	deletion	SETD2,frameshift_variant,p.Glu927LysfsTer3,ENST00000409792,;SETD2,frameshift_variant,p.Glu883LysfsTer3,ENST00000412450,;SETD2,frameshift_variant,p.Glu561LysfsTer3,ENST00000445387,;SETD2,frameshift_variant,p.Glu799LysfsTer3,ENST00000330022,;SETD2,frameshift_variant,p.Glu645LysfsTer3,ENST00000431180,;	2821	111	135	SUCCESS
HYAL3	8372	.	GRCh37	3	50330774	50330774	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	69	247	0	ENST00000336307.1:c.1157G>T	p.Ser386Ile	p.S386I	ENST00000336307	NM_003549.3	386	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS2815.1	1157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCTGCCG	NONE	.	.	hmmpanther:PTHR11769:SF19,hmmpanther:PTHR11769,Gene3D:2.10.25.10,PIRSF_domain:PIRSF500776,PIRSF_domain:PIRSF038193	.	.	ENSP00000337425	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336307	Transcript	.	.	ENSG00000186792	5322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.28)	.	HYAL3_HUMAN	HYAL3	HGNC	C9JB51_HUMAN	.	UPI000006E0AC	SNV	HYAL3,missense_variant,p.Ser356Ile,ENST00000450982,;HYAL3,missense_variant,p.Ser386Ile,ENST00000336307,;HYAL3,missense_variant,p.Ser356Ile,ENST00000359051,;HYAL3,missense_variant,p.Ser137Ile,ENST00000415204,;HYAL3,missense_variant,p.Ser107Ile,ENST00000513170,;NAT6,downstream_gene_variant,,ENST00000417393,;NAT6,downstream_gene_variant,,ENST00000443842,;IFRD2,upstream_gene_variant,,ENST00000426499,;HYAL3,downstream_gene_variant,,ENST00000435141,;IFRD2,upstream_gene_variant,,ENST00000429673,;NAT6,downstream_gene_variant,,ENST00000443094,;NAT6,downstream_gene_variant,,ENST00000442620,;NAT6,downstream_gene_variant,,ENST00000354862,;IFRD2,upstream_gene_variant,,ENST00000336089,;NAT6,downstream_gene_variant,,ENST00000450489,;IFRD2,upstream_gene_variant,,ENST00000417626,;NAT6,downstream_gene_variant,,ENST00000452674,;IFRD2,upstream_gene_variant,,ENST00000436390,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000469855,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000483071,;IFRD2,upstream_gene_variant,,ENST00000438296,;IFRD2,upstream_gene_variant,,ENST00000486322,;IFRD2,upstream_gene_variant,,ENST00000489569,;IFRD2,upstream_gene_variant,,ENST00000492387,;IFRD2,upstream_gene_variant,,ENST00000464258,;	1430	247	200	SUCCESS
CACNA2D3	55799	.	GRCh37	3	55052296	55052296	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376433361	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	115	0	ENST00000288197.5:c.2939G>A	p.Arg980His	p.R980H	ENST00000288197		980	cGc/cAc	0	T:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS54598.1	2939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGCACCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	.	T:0.0001	ENSP00000419101	.	35/38	.	.	.	.	.	.	.	.	rs376433361	35/38	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.11)	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	SNV	CACNA2D3,missense_variant,p.Arg980His,ENST00000474759,;CACNA2D3,missense_variant,p.Arg980His,ENST00000415676,;CACNA2D3,missense_variant,p.Arg886His,ENST00000490478,;CACNA2D3,missense_variant,p.Arg980His,ENST00000288197,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000478261,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000471865,;	2987	115	104	SUCCESS
MTMR14	64419	.	GRCh37	3	9743632	9743632	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202121982	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	83	0	ENST00000296003.4:c.1928G>A	p.Arg643Gln	p.R643Q	ENST00000296003	NM_001077525.2	643	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS43043.1	1928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGGAGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13524	.	A:0.0007	ENSP00000296003	.	19/19	.	.	.	.	.	.	.	.	rs202121982	19/19	common_in_exac	ENST00000296003	Transcript	.	.	ENSG00000163719	26190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	tolerated(0.07)	.	MTMRE_HUMAN	MTMR14	HGNC	.	.	UPI000007423D	SNV	MTMR14,missense_variant,p.Arg285Gln,ENST00000420925,;MTMR14,missense_variant,p.Arg531Gln,ENST00000351233,;MTMR14,missense_variant,p.Arg591Gln,ENST00000353332,;MTMR14,missense_variant,p.Arg643Gln,ENST00000296003,;CPNE9,upstream_gene_variant,,ENST00000383831,;CPNE9,upstream_gene_variant,,ENST00000383832,;MTMR14,3_prime_UTR_variant,,ENST00000414996,;MTMR14,3_prime_UTR_variant,,ENST00000447144,;MTMR14,non_coding_transcript_exon_variant,,ENST00000606184,;CPNE9,upstream_gene_variant,,ENST00000491802,;	2050	83	100	SUCCESS
SLBP	7884	.	GRCh37	4	1701359	1701359	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	25	74	0	ENST00000489418.1:c.411G>C	p.Arg137Ser	p.R137S	ENST00000489418	NM_006527.2	137	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS3350.1	411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCCTCAT	NONE	.	.	hmmpanther:PTHR17408,hmmpanther:PTHR17408:SF4,Pfam_domain:PF15247	.	.	ENSP00000417686	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000489418	Transcript	.	.	ENSG00000163950	10904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	deleterious(0)	.	SLBP_HUMAN	SLBP	HGNC	Q53XR2_HUMAN,B3KSC5_HUMAN	.	UPI0000135A0D	SNV	SLBP,missense_variant,p.Arg137Ser,ENST00000489418,;SLBP,missense_variant,p.Arg92Ser,ENST00000483348,;SLBP,missense_variant,p.Arg98Ser,ENST00000429429,;SLBP,missense_variant,p.Arg145Ser,ENST00000480936,;SLBP,missense_variant,p.Arg102Ser,ENST00000488267,;SLBP,missense_variant,p.Arg144Ser,ENST00000318386,;	778	74	29	SUCCESS
CEP44	80817	.	GRCh37	4	175225507	175225507	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	87	192	0	ENST00000296519.4:c.494T>G	p.Met165Arg	p.M165R	ENST00000296519		165	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS47163.1	494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTATGACCT	NONE	.	.	hmmpanther:PTHR31477,hmmpanther:PTHR31477:SF1	.	.	ENSP00000389427	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000457424	Transcript	.	.	ENSG00000164118	29356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.05)	.	CEP44_HUMAN	CEP44	HGNC	D6RGX6_HUMAN,D6RC25_HUMAN,D6RBX1_HUMAN	.	UPI000014031D	SNV	CEP44,missense_variant,p.Met165Arg,ENST00000296519,;CEP44,missense_variant,p.Met165Arg,ENST00000503780,;CEP44,missense_variant,p.Met165Arg,ENST00000457424,;CEP44,missense_variant,p.Met165Arg,ENST00000515299,;CEP44,missense_variant,p.Met165Arg,ENST00000426172,;CEP44,downstream_gene_variant,,ENST00000514712,;CEP44,downstream_gene_variant,,ENST00000503053,;CEP44,downstream_gene_variant,,ENST00000505124,;CEP44,missense_variant,p.Met165Arg,ENST00000396791,;CEP44,upstream_gene_variant,,ENST00000508483,;	799	192	128	SUCCESS
TBC1D19	55296	.	GRCh37	4	26661311	26661311	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	29	68	0	ENST00000264866.4:c.573A>G	p.Val191=	p.V191=	ENST00000264866	NM_018317.2	191	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS3439.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTAAAAGA	NONE	.	.	hmmpanther:PTHR16110	.	.	ENSP00000264866	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000264866	Transcript	.	.	ENSG00000109680	25624	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC19_HUMAN	TBC1D19	HGNC	.	.	UPI000004A0E3	SNV	TBC1D19,synonymous_variant,p.%3D,ENST00000511789,;TBC1D19,synonymous_variant,p.%3D,ENST00000264866,;TBC1D19,synonymous_variant,p.%3D,ENST00000512840,;TBC1D19,synonymous_variant,p.%3D,ENST00000505206,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000504442,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000515568,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000502873,;	851	68	42	SUCCESS
TBC1D19	55296	.	GRCh37	4	26661312	26661312	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	29	67	0	ENST00000264866.4:c.574A>T	p.Lys192Ter	p.K192*	ENST00000264866	NM_018317.2	192	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS3439.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAAAAGAC	NONE	.	.	hmmpanther:PTHR16110	.	.	ENSP00000264866	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000264866	Transcript	.	.	ENSG00000109680	25624	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC19_HUMAN	TBC1D19	HGNC	.	.	UPI000004A0E3	SNV	TBC1D19,stop_gained,p.Lys127Ter,ENST00000511789,;TBC1D19,stop_gained,p.Lys192Ter,ENST00000264866,;TBC1D19,stop_gained,p.Lys161Ter,ENST00000512840,;TBC1D19,stop_gained,p.Lys127Ter,ENST00000505206,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000504442,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000515568,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000502873,;	852	67	41	SUCCESS
SLC30A9	10463	.	GRCh37	4	41992532	41992532	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	42	0	ENST00000264451.7:c.-137G>T		p.*46*	ENST00000264451	NM_006345.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3465.1	.	MUTECT|MUSE	.	TTGCCGTTTCC	NONE	.	.	.	.	.	ENSP00000264451	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000264451	Transcript	.	.	ENSG00000014824	1329	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNT9_HUMAN	SLC30A9	HGNC	.	.	UPI000013D51C	SNV	SLC30A9,5_prime_UTR_variant,,ENST00000264451,;DCAF4L1,downstream_gene_variant,,ENST00000333141,;RP11-814H16.2,upstream_gene_variant,,ENST00000608029,;SLC30A9,5_prime_UTR_variant,,ENST00000513699,;SLC30A9,upstream_gene_variant,,ENST00000510460,;	44	42	43	SUCCESS
GABRB1	2560	.	GRCh37	4	47163294	47163294	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	57	0	ENST00000295454.3:c.269A>C	p.Gln90Pro	p.Q90P	ENST00000295454	NM_000812.3	90	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS3474.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAGTCTT	NONE	.	.	hmmpanther:PTHR18945:SF198,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000295454	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000295454	Transcript	.	.	ENSG00000163288	4081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GBRB1_HUMAN	GABRB1	HGNC	D6REM0_HUMAN	.	UPI000012AFAC	SNV	GABRB1,missense_variant,p.Gln20Pro,ENST00000538619,;GABRB1,missense_variant,p.Gln57Pro,ENST00000513567,;GABRB1,missense_variant,p.Gln90Pro,ENST00000295454,;GABRB1,synonymous_variant,p.%3D,ENST00000510909,;	561	57	63	SUCCESS
REST	5978	.	GRCh37	4	57796730	57796730	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs541994823	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	154	429	0	ENST00000309042.7:c.1706A>G	p.Lys569Arg	p.K569R	ENST00000309042	NM_005612.4	569	aAa/aGa	0	.	T:0	.	T:0	.	G	K/R	protein_coding	YES	CCDS3509.1	1706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAAAAGC	NONE	by1000G	.	Low_complexity_(Seg):seg	T:0	.	ENSP00000311816	T:0	4/4	.	.	.	.	.	.	.	.	rs541994823	4/4	common_in_exac	ENST00000309042	Transcript	.	T:0.0002	ENSG00000084093	9966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.339)	T:0.001	tolerated(0.08)	.	REST_HUMAN	REST	HGNC	.	.	UPI000013FBF6	SNV	REST,missense_variant,p.Lys569Arg,ENST00000309042,;REST,downstream_gene_variant,,ENST00000514063,;	2020	429	225	SUCCESS
PTPN13	5783	.	GRCh37	4	87556432	87556432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	41	87	0	ENST00000411767.2:c.23C>A	p.Ala8Asp	p.A8D	ENST00000411767		8	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS47093.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCCCTGG	NONE	.	.	PROSITE_profiles:PS51377,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933,SMART_domains:SM00750	.	.	ENSP00000394794	.	2/48	.	.	.	.	.	.	.	.	.	2/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Ala8Asp,ENST00000411767,;PTPN13,missense_variant,p.Ala8Asp,ENST00000436978,;PTPN13,missense_variant,p.Ala8Asp,ENST00000316707,;PTPN13,missense_variant,p.Ala8Asp,ENST00000511467,;PTPN13,missense_variant,p.Ala8Asp,ENST00000502971,;PTPN13,missense_variant,p.Ala8Asp,ENST00000507902,;PTPN13,missense_variant,p.Ala8Asp,ENST00000427191,;	503	87	54	SUCCESS
MAN2A1	4124	.	GRCh37	5	109106073	109106073	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	100	0	ENST00000261483.4:c.1027G>T	p.Asp343Tyr	p.D343Y	ENST00000261483	NM_002372.2	343	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS34209.1	1027	SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGATATT	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:3.20.110.10,Pfam_domain:PF01074,Superfamily_domains:SSF88713	.	.	ENSP00000261483	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Asp343Tyr,ENST00000261483,;	2079	100	58	SUCCESS
PPIC	5480	.	GRCh37	5	122372304	122372304	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs375305758	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	25	158	0	ENST00000306442.4:c.17G>C	p.Arg6Pro	p.R6P	ENST00000306442	NM_000943.4	6	cGg/cCg	0	T:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS4133.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCGAGGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11071:SF168,hmmpanther:PTHR11071	.	T:0.0001	ENSP00000303057	.	1/5	.	.	.	.	.	.	.	.	rs375305758	1/5	PASS	ENST00000306442	Transcript	.	.	ENSG00000168938	9256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	PPIC_HUMAN	PPIC	HGNC	.	.	UPI0000128C7E	SNV	PPIC,missense_variant,p.Arg6Pro,ENST00000306442,;RP11-359P5.1,non_coding_transcript_exon_variant,,ENST00000506859,;PPIC,non_coding_transcript_exon_variant,,ENST00000415659,;	133	158	117	SUCCESS
PKD2L2	27039	.	GRCh37	5	137257348	137257348	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	27	71	0	ENST00000508883.1:c.1352T>C	p.Leu451Pro	p.L451P	ENST00000508883		451	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS43367.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTTGGAG	BUFFER|p.R448Q|c.1343G>A|3	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47,Pfam_domain:PF08016	.	.	ENSP00000290431	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000290431	Transcript	.	.	ENSG00000078795	9012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PK2L2_HUMAN	PKD2L2	HGNC	D6RF71_HUMAN,D6RBX8_HUMAN	.	UPI000049E016	SNV	PKD2L2,missense_variant,p.Leu451Pro,ENST00000508883,;PKD2L2,missense_variant,p.Leu417Pro,ENST00000350250,;PKD2L2,missense_variant,p.Leu451Pro,ENST00000290431,;PKD2L2,missense_variant,p.Leu429Pro,ENST00000502810,;PKD2L2,intron_variant,,ENST00000508638,;	1375	71	54	SUCCESS
PCDHB15	56121	.	GRCh37	5	140626364	140626364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	130	0	ENST00000231173.3:c.1218A>T	p.Glu406Asp	p.E406D	ENST00000231173	NM_018935.2	406	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS4257.1	1218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAAGGGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF97,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231173	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231173	Transcript	.	.	ENSG00000113248	8686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.18)	.	PCDBF_HUMAN	PCDHB15	HGNC	.	.	UPI00001273E8	SNV	PCDHB15,missense_variant,p.Glu406Asp,ENST00000231173,;PCDHB19P,downstream_gene_variant,,ENST00000570871,;	1218	130	93	SUCCESS
PCDH1	5097	.	GRCh37	5	141243510	141243510	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	63	0	ENST00000394536.3:c.2386G>A	p.Asp796Asn	p.D796N	ENST00000394536	NM_002587.4	796	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4267.1	2386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTCACTGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000287008	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,missense_variant,p.Asp774Asn,ENST00000536585,;PCDH1,missense_variant,p.Asp784Asn,ENST00000456271,;PCDH1,missense_variant,p.Asp796Asn,ENST00000287008,;PCDH1,missense_variant,p.Asp796Asn,ENST00000394536,;PCDH1,missense_variant,p.Asp807Asn,ENST00000357517,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,downstream_gene_variant,,ENST00000505937,;	2534	63	44	SUCCESS
TCOF1	6949	.	GRCh37	5	149756046	149756046	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	29	227	0	ENST00000377797.3:c.2203T>C	p.Leu735=	p.L735=	ENST00000377797	NM_001135243.1	735	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS54936.1	2203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCTTGGGG	NONE	.	.	hmmpanther:PTHR20787,Pfam_domain:PF03546	.	.	ENSP00000421655	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000504761	Transcript	1	.	ENSG00000070814	11654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCOF_HUMAN	TCOF1	HGNC	Q9UFD4_HUMAN	.	UPI0000EE3736	SNV	TCOF1,synonymous_variant,p.%3D,ENST00000427724,;TCOF1,synonymous_variant,p.%3D,ENST00000513346,;TCOF1,synonymous_variant,p.%3D,ENST00000394269,;TCOF1,synonymous_variant,p.%3D,ENST00000439160,;TCOF1,synonymous_variant,p.%3D,ENST00000377797,;TCOF1,synonymous_variant,p.%3D,ENST00000451292,;TCOF1,synonymous_variant,p.%3D,ENST00000445265,;TCOF1,synonymous_variant,p.%3D,ENST00000323668,;TCOF1,synonymous_variant,p.%3D,ENST00000504761,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,upstream_gene_variant,,ENST00000513538,;TCOF1,upstream_gene_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,upstream_gene_variant,,ENST00000506767,;	2203	228	144	SUCCESS
NSD1	64324	.	GRCh37	5	176721807	176721807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	39	0	ENST00000439151.2:c.7438G>A	p.Asp2480Asn	p.D2480N	ENST00000439151	NM_022455.4	2480	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS4412.1	7438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGATGAG	NONE	.	.	.	.	.	ENSP00000395929	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	deleterious_low_confidence(0.04)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Asp2377Asn,ENST00000361032,;NSD1,missense_variant,p.Asp2211Asn,ENST00000354179,;NSD1,missense_variant,p.Asp2480Asn,ENST00000439151,;NSD1,missense_variant,p.Asp2211Asn,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000513736,;	7483	39	25	SUCCESS
SLC1A3	6507	.	GRCh37	5	36629587	36629587	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	90	0	ENST00000265113.4:c.217A>G	p.Met73Val	p.M73V	ENST00000265113	NM_004172.4	73	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS3919.1	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAATGAGC	NONE	.	.	Superfamily_domains:0053221,Pfam_domain:PF00375,Gene3D:2nwlC00,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24	.	.	ENSP00000265113	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000265113	Transcript	1	.	ENSG00000079215	10941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.07)	.	EAA1_HUMAN	SLC1A3	HGNC	E7EUV6_HUMAN,E7EUS7_HUMAN	.	UPI0000129B0F	SNV	SLC1A3,missense_variant,p.Met73Val,ENST00000265113,;SLC1A3,missense_variant,p.Met73Val,ENST00000505202,;SLC1A3,missense_variant,p.Met73Val,ENST00000513646,;SLC1A3,missense_variant,p.Met73Val,ENST00000513903,;SLC1A3,missense_variant,p.Met73Val,ENST00000381918,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000509272,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000502864,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000514563,;	693	90	85	SUCCESS
DDX4	54514	.	GRCh37	5	55111225	55111225	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770112379	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	100	0	ENST00000505374.1:c.2071G>A	p.Val691Met	p.V691M	ENST00000505374	NM_024415.2	691	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS3969.1	2071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACGTGTTT	NONE	.	.	.	.	.	ENSP00000424838	.	21/22	.	.	.	.	.	.	.	.	rs770112379	21/22	PASS	ENST00000505374	Transcript	.	.	ENSG00000152670	18700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.27)	.	DDX4_HUMAN	DDX4	HGNC	D6RBL3_HUMAN,D6RAF5_HUMAN	.	UPI00001290D3	SNV	DDX4,missense_variant,p.Val671Met,ENST00000514278,;DDX4,missense_variant,p.Val657Met,ENST00000353507,;DDX4,missense_variant,p.Val542Met,ENST00000511853,;DDX4,missense_variant,p.Val657Met,ENST00000354991,;DDX4,missense_variant,p.Val691Met,ENST00000505374,;DDX4,3_prime_UTR_variant,,ENST00000503129,;	2163	100	86	SUCCESS
HTR1A	3350	.	GRCh37	5	63256758	63256758	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	57	0	ENST00000323865.3:c.789G>C	p.Trp263Cys	p.W263C	ENST00000323865	NM_000524.3	263	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS34168.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCAGTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Pfam_domain:PF00001,Prints_domain:PR00512	.	.	ENSP00000316244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323865	Transcript	1	.	ENSG00000178394	5286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.21)	.	5HT1A_HUMAN	HTR1A	HGNC	Q5ZGX3_HUMAN,D6RA34_HUMAN	.	UPI0000124F1A	SNV	HTR1A,missense_variant,p.Trp263Cys,ENST00000323865,;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	1023	57	51	SUCCESS
ANKRD32	0	.	GRCh37	5	94001708	94001708	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	18	0	ENST00000265140.5:c.1511C>G	p.Ser504Cys	p.S504C	ENST00000265140	NM_032290.3	504	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS4071.2	1511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCTTTAG	NONE	.	.	hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22	.	.	ENSP00000265140	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000265140	Transcript	.	.	ENSG00000133302	25408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0.02)	.	ANR32_HUMAN	ANKRD32	HGNC	I6L9F1_HUMAN,D6RED9_HUMAN	.	UPI000066D9F9	SNV	ANKRD32,missense_variant,p.Ser504Cys,ENST00000265140,;ANKRD32,downstream_gene_variant,,ENST00000466957,;	1930	18	26	SUCCESS
POPDC3	64208	.	GRCh37	6	105609574	105609574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	65	201	0	ENST00000254765.3:c.211G>T	p.Asp71Tyr	p.D71Y	ENST00000254765	NM_022361.4	71	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5052.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCTACCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12101:SF18,hmmpanther:PTHR12101	.	.	ENSP00000254765	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000254765	Transcript	.	.	ENSG00000132429	17649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.85)	.	deleterious(0)	.	POPD3_HUMAN	POPDC3	HGNC	.	.	UPI000006FA58	SNV	POPDC3,missense_variant,p.Asp71Tyr,ENST00000254765,;POPDC3,upstream_gene_variant,,ENST00000429112,;BVES-AS1,intron_variant,,ENST00000580511,;BVES-AS1,intron_variant,,ENST00000369122,;BVES-AS1,intron_variant,,ENST00000580854,;BVES-AS1,downstream_gene_variant,,ENST00000369120,;POPDC3,intron_variant,,ENST00000474760,;POPDC3,intron_variant,,ENST00000489134,;	490	201	162	SUCCESS
BCLAF1	9774	.	GRCh37	6	136597048	136597048	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1350215614	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	75	0	ENST00000531224.1:c.1615G>A	p.Ala539Thr	p.A539T	ENST00000531224	NM_001077441.1	539	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5177.1	1615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGCTATCA	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	.	.	ENSP00000435210	.	5/13	.	.	.	.	.	.	.	.	COSM213115	5/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.682)	.	tolerated(0.39)	1	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Ala539Thr,ENST00000529826,;BCLAF1,missense_variant,p.Ala539Thr,ENST00000527536,;BCLAF1,missense_variant,p.Ala537Thr,ENST00000392348,;BCLAF1,missense_variant,p.Ala366Thr,ENST00000530767,;BCLAF1,missense_variant,p.Ala539Thr,ENST00000531224,;BCLAF1,missense_variant,p.Ala537Thr,ENST00000353331,;BCLAF1,missense_variant,p.Ala537Thr,ENST00000527759,;BCLAF1,missense_variant,p.Ala539Thr,ENST00000527613,;BCLAF1,missense_variant,p.Ala364Thr,ENST00000534269,;BCLAF1,missense_variant,p.Ala537Thr,ENST00000530429,;BCLAF1,missense_variant,p.Ala539Thr,ENST00000532384,;BCLAF1,3_prime_UTR_variant,,ENST00000533621,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	1868	75	54	SUCCESS
LY6G5B	58496	.	GRCh37	6	31640030	31640030	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	100	0	ENST00000375864.4:c.577G>T	p.Ala193Ser	p.A193S	ENST00000375864	NM_021221.2	193	Gct/Tct	0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCTGGA	NONE	.	.	.	.	.	ENSP00000365040	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000375880	Transcript	.	.	ENSG00000263020	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSNK2B-LY6G5B-1181	Uniprot_gn	Q5SRQ3_HUMAN	.	UPI00004702F4	SNV	CSNK2B-LY6G5B-1181,missense_variant,p.Ala204Ser,ENST00000409691,;LY6G5B,missense_variant,p.Ala138Ser,ENST00000409525,;LY6G5B,missense_variant,p.Ala193Ser,ENST00000375864,;CSNK2B-LY6G5B-1181,3_prime_UTR_variant,,ENST00000375880,;CSNK2B,downstream_gene_variant,,ENST00000375885,;LY6G5C,downstream_gene_variant,,ENST00000375863,;CSNK2B,downstream_gene_variant,,ENST00000375865,;LY6G5C,downstream_gene_variant,,ENST00000375858,;CSNK2B,downstream_gene_variant,,ENST00000375866,;LY6G5C,downstream_gene_variant,,ENST00000375860,;CSNK2B,downstream_gene_variant,,ENST00000375882,;LY6G5C,downstream_gene_variant,,ENST00000383237,;LY6G5C,downstream_gene_variant,,ENST00000474395,;LY6G5B,upstream_gene_variant,,ENST00000471088,;LY6G5C,downstream_gene_variant,,ENST00000467098,;LY6G5C,downstream_gene_variant,,ENST00000460141,;CSNK2B,downstream_gene_variant,,ENST00000468255,;CSNK2B,downstream_gene_variant,,ENST00000481269,;CSNK2B,downstream_gene_variant,,ENST00000475875,;LY6G5C,downstream_gene_variant,,ENST00000474678,;CSNK2B,downstream_gene_variant,,ENST00000465481,;	1194	100	37	SUCCESS
KIF6	221458	.	GRCh37	6	39311534	39311534	+	synonymous_variant	Silent	SNP	C	C	T	rs143657366	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	32	104	0	ENST00000287152.7:c.2379G>A	p.Ser793=	p.S793=	ENST00000287152	NM_145027.4	793	tcG/tcA	0	T:0.0061	T:0.0113	.	T:0	.	T	S	protein_coding	YES	CCDS4844.1	2379	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCCGAGTC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000287152	T:0	22/23	.	.	.	.	.	.	.	.	rs143657366	22/23	common_in_exac	ENST00000287152	Transcript	.	T:0.0030	ENSG00000164627	21202	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,synonymous_variant,p.%3D,ENST00000394362,;KIF6,synonymous_variant,p.%3D,ENST00000287152,;KIF6,synonymous_variant,p.%3D,ENST00000373213,;KIF6,synonymous_variant,p.%3D,ENST00000373215,;KIF6,synonymous_variant,p.%3D,ENST00000373216,;KIF6,synonymous_variant,p.%3D,ENST00000229913,;KIF6,synonymous_variant,p.%3D,ENST00000541946,;KIF6,synonymous_variant,p.%3D,ENST00000458470,;KIF6,synonymous_variant,p.%3D,ENST00000538893,;	2474	104	63	SUCCESS
KHDC1L	100129128	.	GRCh37	6	73933531	73933531	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	62	0	ENST00000370388.3:c.327G>A	p.Gln109=	p.Q109=	ENST00000370388	NM_001126063.2	109	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS47450.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCTGGCT	NONE	.	.	hmmpanther:PTHR31368,hmmpanther:PTHR31368:SF2	.	.	ENSP00000359415	.	3/3	.	.	.	.	.	.	.	.	COSM3697960	3/3	PASS	ENST00000370388	Transcript	.	.	ENSG00000256980	37274	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KHDCL_HUMAN	KHDC1L	HGNC	.	.	UPI0000070CED	SNV	KHDC1L,synonymous_variant,p.%3D,ENST00000370388,;KHDC1L,downstream_gene_variant,,ENST00000471312,;RP11-257K9.8,3_prime_UTR_variant,,ENST00000423730,;	371	62	61	SUCCESS
KHDC1	80759	.	GRCh37	6	74019519	74019519	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	34	0	ENST00000370384.3:c.-82G>A		p.*28*	ENST00000370384	NM_001251874.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59027.1	.	MUTECT|MUSE	.	GCCGGCGGGAA	NONE	.	.	.	.	.	ENSP00000359411	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000370384	Transcript	.	.	ENSG00000135314	21366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KHDC1_HUMAN	KHDC1	HGNC	A6PVU5_HUMAN	.	UPI000020D187	SNV	KHDC1,5_prime_UTR_variant,,ENST00000370384,;KHDC1,non_coding_transcript_exon_variant,,ENST00000484801,;KHDC1,intron_variant,,ENST00000474593,;	420	34	24	SUCCESS
COL12A1	1303	.	GRCh37	6	75866062	75866062	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs577784031	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	53	161	0	ENST00000322507.8:c.3161G>T	p.Arg1054Leu	p.R1054L	ENST00000322507	NM_004370.5	1054	cGa/cTa	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS43482.1	3161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCGCTTT	NONE	by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	.	ENSP00000325146	T:0	15/66	.	.	.	.	.	.	.	.	rs577784031	15/66	PASS	ENST00000322507	Transcript	.	T:0.0002	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	T:0.001	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Arg1054Leu,ENST00000416123,;COL12A1,missense_variant,p.Arg1054Leu,ENST00000322507,;COL12A1,missense_variant,p.Arg1054Leu,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000419671,;	3471	161	134	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90572457	90572457	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs9444715	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	131	0	ENST00000551025.1:n.2466A>G		p.*822*	ENST00000551025				0	G:0.0041	G:0.0091	.	G:0	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTAGAAAG	NONE	byFrequency|byCluster|byHapMap|by1000G	.	.	G:0	G:0	.	G:0	7/9	.	.	.	.	.	.	.	.	rs9444715	7/9	common_in_exac	ENST00000551025	Transcript	.	G:0.0024	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000419040,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000552401,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,intron_variant,,ENST00000548224,;CASP8AP2,downstream_gene_variant,,ENST00000444163,;	2466	131	67	SUCCESS
OR6B1	135946	.	GRCh37	7	143701669	143701669	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1198378129	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	91	0	ENST00000408922.2:c.580A>G	p.Ile194Val	p.I194V	ENST00000408922	NM_001005281.1	194	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43667.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCATAACT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF174,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000386151	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408922	Transcript	.	.	ENSG00000221813	8354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	OR6B1_HUMAN	OR6B1	HGNC	.	.	UPI0000041B18	SNV	OR6B1,missense_variant,p.Ile194Val,ENST00000408922,;	648	91	80	SUCCESS
SSPO	0	.	GRCh37	7	149493599	149493599	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	60	0	ENST00000378016.2:n.6675G>A		p.*2225*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGAGCCAGG	NONE	.	.	.	.	.	.	.	44/109	.	.	.	.	.	.	.	.	.	44/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000472797,;SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,downstream_gene_variant,,ENST00000262089,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	6675	60	58	SUCCESS
BRAT1	221927	.	GRCh37	7	2578351	2578351	+	synonymous_variant	Silent	SNP	G	G	T	rs760731936	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	23	0	ENST00000340611.4:c.1818C>A	p.Gly606=	p.G606=	ENST00000340611	NM_152743.3	606	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5334.1	1818	MUTECT|MUSE	.	GGGAAGCCCTC	NONE	.	.	hmmpanther:PTHR21331,hmmpanther:PTHR21331:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000339637	.	14/14	.	.	.	.	.	.	.	.	rs760731936	14/14	PASS	ENST00000340611	Transcript	.	.	ENSG00000106009	21701	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRAT1_HUMAN	BRAT1	HGNC	F8WDN5_HUMAN	.	UPI00001AEB20	SNV	BRAT1,synonymous_variant,p.%3D,ENST00000340611,;BRAT1,non_coding_transcript_exon_variant,,ENST00000473879,;BRAT1,non_coding_transcript_exon_variant,,ENST00000469750,;BRAT1,non_coding_transcript_exon_variant,,ENST00000493232,;BRAT1,non_coding_transcript_exon_variant,,ENST00000467558,;BRAT1,downstream_gene_variant,,ENST00000421712,;	2075	23	19	SUCCESS
HAS2	3037	.	GRCh37	8	122627072	122627072	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	76	0	ENST00000303924.4:c.936T>C	p.Gly312=	p.G312=	ENST00000303924	NM_005328.2	312	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS6335.1	936	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCACCAAA	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Pfam_domain:PF03142,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000306991	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303924	Transcript	.	.	ENSG00000170961	4819	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HYAS2_HUMAN	HAS2	HGNC	.	.	UPI000012C0A9	SNV	HAS2,synonymous_variant,p.%3D,ENST00000303924,;	1474	76	76	SUCCESS
ZHX1	11244	.	GRCh37	8	124267098	124267098	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	23	135	0	ENST00000297857.2:c.1089A>T	p.Val363=	p.V363=	ENST00000297857		363	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6342.1	1089	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTACAGT	NONE	.	.	hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467	.	.	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	SNV	ZHX1,synonymous_variant,p.%3D,ENST00000395571,;ZHX1,synonymous_variant,p.%3D,ENST00000522655,;ZHX1,synonymous_variant,p.%3D,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000480132,;ZHX1,downstream_gene_variant,,ENST00000524267,;	1707	135	212	SUCCESS
ATAD2	29028	.	GRCh37	8	124408605	124408605	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	56	60	0	ENST00000287394.5:c.-8G>T		p.*3*	ENST00000287394	NM_014109.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6343.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCCCTAC	NONE	.	.	.	.	.	ENSP00000287394	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,5_prime_UTR_variant,,ENST00000287394,;ATAD2,intron_variant,,ENST00000521903,;ATAD2,5_prime_UTR_variant,,ENST00000517666,;ATAD2,5_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;IMPDH1P6,upstream_gene_variant,,ENST00000520656,;	101	60	73	SUCCESS
RAB11FIP1	80223	.	GRCh37	8	37756665	37756665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	29	0	ENST00000330843.4:c.295G>T	p.Gly99Cys	p.G99C	ENST00000330843	NM_001002814.2	99	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS34882.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCGAGCA	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22,PROSITE_profiles:PS50004	.	.	ENSP00000331342	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000330843	Transcript	.	.	ENSG00000156675	30265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	RFIP1_HUMAN	RAB11FIP1	HGNC	.	.	UPI0000D624B1	SNV	RAB11FIP1,missense_variant,p.Gly99Cys,ENST00000287263,;RAB11FIP1,missense_variant,p.Gly99Cys,ENST00000330843,;RAB11FIP1,intron_variant,,ENST00000522727,;	308	29	15	SUCCESS
TRIM55	84675	.	GRCh37	8	67049364	67049364	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	74	0	ENST00000315962.4:c.542G>T	p.Gly181Val	p.G181V	ENST00000315962	NM_184085.1	181	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6184.1	542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGCAGCA	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318	.	.	ENSP00000323913	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000315962	Transcript	.	.	ENSG00000147573	14215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	TRI55_HUMAN	TRIM55	HGNC	.	.	UPI00001CE3B7	SNV	TRIM55,missense_variant,p.Gly181Val,ENST00000276573,;TRIM55,missense_variant,p.Gly181Val,ENST00000315962,;TRIM55,missense_variant,p.Gly181Val,ENST00000353317,;TRIM55,missense_variant,p.Gly181Val,ENST00000350034,;	915	74	40	SUCCESS
PRAG1	0	.	GRCh37	8	8185368	8185368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	29	96	0	ENST00000520004.1:c.2924G>T	p.Gly975Val	p.G975V	ENST00000520004		975	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS43706.1	2924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCCGCCC	NONE	.	.	hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972	.	.	ENSP00000428054	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000520004	Transcript	.	.	ENSG00000182319	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	.	.	SG223_HUMAN	SGK223	Uniprot_gn	.	.	UPI00001D82A6	SNV	SGK223,missense_variant,p.Gly975Val,ENST00000520004,;SGK223,missense_variant,p.Gly975Val,ENST00000330777,;	3189	96	42	SUCCESS
TP53INP1	94241	.	GRCh37	8	95952161	95952161	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	9	90	0	ENST00000342697.4:c.400G>T	p.Val134Leu	p.V134L	ENST00000342697	NM_033285.3	134	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS6265.1	400	MUSE|VARSCANS	.	ATGCACAGCAT	NONE	.	.	hmmpanther:PTHR31671:SF0,hmmpanther:PTHR31671,Pfam_domain:PF14839	.	.	ENSP00000344215	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000342697	Transcript	.	.	ENSG00000164938	18022	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	tolerated(0.06)	.	T53I1_HUMAN	TP53INP1	HGNC	.	.	UPI00000725F8	SNV	TP53INP1,missense_variant,p.Val134Leu,ENST00000378776,;TP53INP1,missense_variant,p.Val134Leu,ENST00000342697,;TP53INP1,missense_variant,p.Val134Leu,ENST00000448464,;NDUFAF6,intron_variant,,ENST00000519136,;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000523378,;	808	90	97	SUCCESS
HSDL2	84263	.	GRCh37	9	115171195	115171195	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	67	0	ENST00000398805.3:c.289A>G	p.Ile97Val	p.I97V	ENST00000398805	NM_032303.4	97	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43864.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATATTCTG	NONE	.	.	Prints_domain:PR00081,Superfamily_domains:SSF51735,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF273	.	.	ENSP00000381785	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000398805	Transcript	.	.	ENSG00000119471	18572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.21)	.	HSDL2_HUMAN	HSDL2	HGNC	B4E136_HUMAN,B4DWC7_HUMAN	.	UPI0000039E52	SNV	HSDL2,missense_variant,p.Ile97Val,ENST00000398805,;HSDL2,5_prime_UTR_variant,,ENST00000262542,;HSDL2,5_prime_UTR_variant,,ENST00000539114,;HSDL2,intron_variant,,ENST00000398803,;HSDL2,non_coding_transcript_exon_variant,,ENST00000488101,;HSDL2,non_coding_transcript_exon_variant,,ENST00000467434,;	516	67	55	SUCCESS
PPP2R4	0	.	GRCh37	9	131891300	131891300	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	117	0	ENST00000337738.1:c.358G>C	p.Asp120His	p.D120H	ENST00000337738	NM_178001.2	120	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS6920.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGACAGG	NONE	.	.	hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984	.	.	ENSP00000377036	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	deleterious(0)	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,missense_variant,p.Asp48His,ENST00000414331,;PPP2R4,missense_variant,p.Asp56His,ENST00000357197,;PPP2R4,missense_variant,p.Asp120His,ENST00000337738,;PPP2R4,missense_variant,p.Asp120His,ENST00000445241,;PPP2R4,missense_variant,p.Asp85His,ENST00000358994,;PPP2R4,missense_variant,p.Asp50His,ENST00000440346,;PPP2R4,missense_variant,p.Asp50His,ENST00000453358,;PPP2R4,missense_variant,p.Asp120His,ENST00000452489,;PPP2R4,missense_variant,p.Asp108His,ENST00000417504,;PPP2R4,missense_variant,p.Asp120His,ENST00000455292,;PPP2R4,missense_variant,p.Asp85His,ENST00000393370,;PPP2R4,missense_variant,p.Asp50His,ENST00000417728,;PPP2R4,missense_variant,p.Asp91His,ENST00000348141,;PPP2R4,intron_variant,,ENST00000355007,;PPP2R4,intron_variant,,ENST00000347048,;	536	117	83	SUCCESS
IFNA5	3442	.	GRCh37	9	21305082	21305082	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	108	0	ENST00000259555.4:c.174C>G	p.Asp58Glu	p.D58E	ENST00000259555	NM_002169.2	58	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS6502.1	174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGTCATG	NONE	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691:SF33,hmmpanther:PTHR11691	.	.	ENSP00000259555	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259555	Transcript	.	.	ENSG00000147873	5426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	deleterious(0)	.	IFNA5_HUMAN	IFNA5	HGNC	.	.	UPI0000047760	SNV	IFNA5,missense_variant,p.Asp58Glu,ENST00000259555,;	231	108	88	SUCCESS
KIAA2026	158358	.	GRCh37	9	5922128	5922129	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-	rs778199550	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	165	46	151	0	ENST00000399933.3:c.3867_3868del	p.Gly1290SerfsTer54	p.G1290Sfs*54	ENST00000399933	NM_001017969.2	1289	acTGga/acga	0	.	.	.	.	.	-	TG/TX	protein_coding	YES	.	3867-3868	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACTCCAGTGTT	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	rs778199550	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	deletion	KIAA2026,frameshift_variant,p.Gly1260SerfsTer54,ENST00000381461,;KIAA2026,frameshift_variant,p.Gly1290SerfsTer54,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	3867-3868	151	211	SUCCESS
RNF128	79589	.	GRCh37	X	105970236	105970236	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	55	258	0	ENST00000255499.2:c.93G>A	p.Pro31=	p.P31=	ENST00000255499	NM_194463.1	31	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14521.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCGCAGGC	NONE	.	.	hmmpanther:PTHR22765:SF30,hmmpanther:PTHR22765,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000255499	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000255499	Transcript	.	.	ENSG00000133135	21153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN128_HUMAN	RNF128	HGNC	A0PJI4_HUMAN	.	UPI0000046A7A	SNV	RNF128,synonymous_variant,p.%3D,ENST00000255499,;RNF128,intron_variant,,ENST00000418562,;RNF128,intron_variant,,ENST00000324342,;	343	258	205	SUCCESS
MIR450A2	574505	.	GRCh37	X	133674608	133674608	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	264	74	541	1	ENST00000385022.1:n.30A>G		p.*10*	ENST00000385022				0	.	.	.	.	.	C	.	miRNA	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	ACACATCGCAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385022	Transcript	.	.	ENSG00000207755	32137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MIR450A2	HGNC	.	.	.	SNV	MIR450A2,mature_miRNA_variant,,ENST00000385022,;MIR503HG,downstream_gene_variant,,ENST00000445415,;MIR450B,upstream_gene_variant,,ENST00000401182,;MIR503HG,downstream_gene_variant,,ENST00000441492,;MIR450A1,upstream_gene_variant,,ENST00000362262,;MIR503HG,downstream_gene_variant,,ENST00000440570,;MIR503HG,downstream_gene_variant,,ENST00000457876,;MIR542,downstream_gene_variant,,ENST00000385050,;MIR503HG,downstream_gene_variant,,ENST00000414769,;	30	542	338	SUCCESS
MAGEA11	4110	.	GRCh37	X	148798034	148798034	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	37	308	0	ENST00000355220.5:c.888C>G	p.Asn296Lys	p.N296K	ENST00000355220	NM_005366.4	296	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS48180.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACCTCTC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71,PROSITE_profiles:PS50838	.	.	ENSP00000347358	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355220	Transcript	.	.	ENSG00000185247	6798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.02)	.	MAGAB_HUMAN	MAGEA11	HGNC	.	.	UPI0000211BB0	SNV	MAGEA11,missense_variant,p.Asn296Lys,ENST00000355220,;MAGEA11,missense_variant,p.Asn267Lys,ENST00000333104,;MAGEA11,missense_variant,p.Asn267Lys,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	990	308	195	SUCCESS
TREX2	11219	.	GRCh37	X	152710779	152710779	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782408064	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	87	295	0	ENST00000334497.2:c.239G>C	p.Arg80Pro	p.R80P	ENST00000334497		80	cGc/cCc	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS35437.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGGTGG	NONE	byFrequency	.	hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF13,Pfam_domain:PF00929,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000333441	.	13/13	.	.	.	.	.	.	.	.	rs782408064,COSM3424581,COSM3424580	13/13	PASS	ENST00000330912	Transcript	.	.	ENSG00000183479	12270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	TREX2_HUMAN	TREX2	HGNC	.	.	UPI000006F0D9	SNV	TREX2,missense_variant,p.Arg80Pro,ENST00000370232,;TREX2,missense_variant,p.Arg37Pro,ENST00000330912,;TREX2,missense_variant,p.Arg79Pro,ENST00000414588,;TREX2,missense_variant,p.Arg37Pro,ENST00000370231,;TREX2,missense_variant,p.Arg80Pro,ENST00000334497,;TREX2,missense_variant,p.Arg80Pro,ENST00000402951,;TREX2,missense_variant,p.Arg37Pro,ENST00000338525,;TREX2,missense_variant,p.Arg37Pro,ENST00000393862,;HAUS7,downstream_gene_variant,,ENST00000370211,;HAUS7,downstream_gene_variant,,ENST00000435662,;HAUS7,downstream_gene_variant,,ENST00000421080,;HAUS7,downstream_gene_variant,,ENST00000370212,;HAUS7,downstream_gene_variant,,ENST00000484394,;HAUS7,downstream_gene_variant,,ENST00000437046,;HAUS7,downstream_gene_variant,,ENST00000460898,;HAUS7,downstream_gene_variant,,ENST00000491286,;	1661	296	186	SUCCESS
SYP	6855	.	GRCh37	X	49047924	49047924	+	synonymous_variant	Silent	SNP	A	A	T	rs782698656	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	54	189	1	ENST00000263233.4:c.912T>A	p.Gly304=	p.G304=	ENST00000263233	NM_003179.2	304	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14321.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCACCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF10	.	.	ENSP00000263233	.	6/7	.	.	.	.	.	.	.	.	rs782698656	6/7	PASS	ENST00000263233	Transcript	.	.	ENSG00000102003	11506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYPH_HUMAN	SYP	HGNC	B7Z359_HUMAN	.	UPI0000117AEC	SNV	SYP,synonymous_variant,p.%3D,ENST00000479808,;SYP,synonymous_variant,p.%3D,ENST00000263233,;SYP,synonymous_variant,p.%3D,ENST00000538567,;SYP,synonymous_variant,p.%3D,ENST00000472598,;SYP,3_prime_UTR_variant,,ENST00000376303,;SYP,downstream_gene_variant,,ENST00000466635,;SYP,downstream_gene_variant,,ENST00000469389,;	985	191	162	SUCCESS
WNK3	65267	.	GRCh37	X	54275438	54275438	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	157	0	ENST00000354646.2:c.3343G>T	p.Glu1115Ter	p.E1115*	ENST00000354646	NM_020922.4	1115	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14357.1	3343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCATCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	.	.	ENSP00000346667	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000354646	Transcript	.	.	ENSG00000196632	14543	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNK3_HUMAN	WNK3	HGNC	B1AQN8_HUMAN	.	UPI00001AF003	SNV	WNK3,stop_gained,p.Glu1115Ter,ENST00000375159,;WNK3,stop_gained,p.Glu1115Ter,ENST00000354646,;WNK3,stop_gained,p.Glu1115Ter,ENST00000375169,;	3782	157	105	SUCCESS
FGD1	2245	.	GRCh37	X	54475585	54475585	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	97	0	ENST00000375135.3:c.2265C>T	p.Ala755=	p.A755=	ENST00000375135	NM_004463.2	755	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14359.1	2265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGGCCTT	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79,Pfam_domain:PF01363,Gene3D:3.30.40.10,SMART_domains:SM00064,Superfamily_domains:SSF50729	.	.	ENSP00000364277	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000375135	Transcript	.	.	ENSG00000102302	3663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD1_HUMAN	FGD1	HGNC	.	.	UPI000012A705	SNV	FGD1,synonymous_variant,p.%3D,ENST00000375135,;TSR2,downstream_gene_variant,,ENST00000375151,;	2999	97	73	SUCCESS
DGAT2L6	347516	.	GRCh37	X	69419697	69419697	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	130	0	ENST00000333026.3:c.232C>A	p.Leu78Ile	p.L78I	ENST00000333026	NM_198512.1	78	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS14397.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCTATGG	NONE	.	.	hmmpanther:PTHR12317:SF11,hmmpanther:PTHR12317,Pfam_domain:PF03982	.	.	ENSP00000328036	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000333026	Transcript	.	.	ENSG00000184210	23250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(0.3)	.	DG2L6_HUMAN	DGAT2L6	HGNC	.	.	UPI00001C10BF	SNV	DGAT2L6,missense_variant,p.Leu78Ile,ENST00000333026,;	332	130	83	SUCCESS
PDZD11	51248	.	GRCh37	X	69509187	69509187	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	44	281	0	ENST00000239666.4:c.5A>G	p.Asp2Gly	p.D2G	ENST00000239666	NM_016484.4	2	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS14400.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTCCATC	NONE	.	.	hmmpanther:PTHR14063	.	.	ENSP00000239666	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000239666	Transcript	.	.	ENSG00000120509	28034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.1)	.	PDZ11_HUMAN	PDZD11	HGNC	.	.	UPI0000070675	SNV	PDZD11,missense_variant,p.Asp2Gly,ENST00000239666,;PDZD11,missense_variant,p.Asp2Gly,ENST00000374454,;KIF4A,upstream_gene_variant,,ENST00000374403,;RAB41,downstream_gene_variant,,ENST00000276066,;RAB41,downstream_gene_variant,,ENST00000374473,;KIF4A,upstream_gene_variant,,ENST00000374388,;PDZD11,non_coding_transcript_exon_variant,,ENST00000473667,;PDZD11,non_coding_transcript_exon_variant,,ENST00000486461,;KIF4A,upstream_gene_variant,,ENST00000485406,;	138	282	212	SUCCESS
P2RY10	27334	.	GRCh37	X	78216995	78216995	+	synonymous_variant	Silent	SNP	C	C	A	rs763969815	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	84	238	0	ENST00000171757.2:c.978C>A	p.Ser326=	p.S326=	ENST00000171757	NM_014499.2	326	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14442.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCCCGCCT	NONE	.	.	hmmpanther:PTHR24232:SF6,hmmpanther:PTHR24232	.	.	ENSP00000171757	.	4/4	.	.	.	.	.	.	.	.	rs763969815,COSM757440	4/4	PASS	ENST00000171757	Transcript	.	.	ENSG00000078589	19906	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	P2Y10_HUMAN	P2RY10	HGNC	.	.	UPI0000050471	SNV	P2RY10,synonymous_variant,p.%3D,ENST00000544091,;P2RY10,synonymous_variant,p.%3D,ENST00000171757,;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	1258	238	186	SUCCESS
P2RY10	27334	.	GRCh37	X	78216996	78216996	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	84	238	0	ENST00000171757.2:c.979C>A	p.Arg327Ser	p.R327S	ENST00000171757	NM_014499.2	327	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS14442.1	979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGCCTC	NONE	.	.	hmmpanther:PTHR24232:SF6,hmmpanther:PTHR24232	.	.	ENSP00000171757	.	4/4	.	.	.	.	.	.	.	.	COSM3965554	4/4	PASS	ENST00000171757	Transcript	.	.	ENSG00000078589	19906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.031)	.	tolerated(0.13)	1	P2Y10_HUMAN	P2RY10	HGNC	.	.	UPI0000050471	SNV	P2RY10,missense_variant,p.Arg327Ser,ENST00000544091,;P2RY10,missense_variant,p.Arg327Ser,ENST00000171757,;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	1259	238	187	SUCCESS
CNNM2	54805	.	GRCh37	10	104678199	104678199	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs769683854	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	32	0	ENST00000369878.4:c.-39G>C		p.*13*	ENST00000369878	NM_017649.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44474.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGGGTTG	NONE	.	.	.	.	.	ENSP00000358894	.	1/8	.	.	.	.	.	.	.	.	rs769683854	1/8	PASS	ENST00000369878	Transcript	1	.	ENSG00000148842	103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNNM2_HUMAN	CNNM2	HGNC	.	.	UPI0000231CA6	SNV	CNNM2,5_prime_UTR_variant,,ENST00000369878,;CNNM2,5_prime_UTR_variant,,ENST00000433628,;CNNM2,5_prime_UTR_variant,,ENST00000369875,;RP11-724N1.1,downstream_gene_variant,,ENST00000610034,;	150	33	41	SUCCESS
CCDC172	374355	.	GRCh37	10	118100283	118100283	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	82	222	0	ENST00000333254.3:c.203T>G	p.Leu68Arg	p.L68R	ENST00000333254	NM_198515.2	68	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS31291.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTTTTGA	NONE	.	.	hmmpanther:PTHR22419,hmmpanther:PTHR22419:SF2	.	.	ENSP00000329860	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000333254	Transcript	.	.	ENSG00000182645	30524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	CC172_HUMAN	CCDC172	HGNC	.	.	UPI000000DAB5	SNV	CCDC172,missense_variant,p.Leu68Arg,ENST00000333254,;CCDC172,splice_region_variant,,ENST00000497093,;CCDC172,non_coding_transcript_exon_variant,,ENST00000463594,;	454	222	212	SUCCESS
MIR1265	100302116	.	GRCh37	10	14478607	14478607	+	mature_miRNA_variant	RNA	SNP	G	G	C	rs746612048	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	83	1	ENST00000408444.1:n.33G>C		p.*11*	ENST00000408444				0	.	.	.	.	.	C	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTGTTAAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs746612048	1/1	PASS	ENST00000408444	Transcript	.	.	ENSG00000221371	35332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR1265	HGNC	.	.	.	SNV	FRMD4A,intron_variant,,ENST00000475141,;FRMD4A,intron_variant,,ENST00000493380,;MIR1265,mature_miRNA_variant,,ENST00000408444,;	33	84	71	SUCCESS
CUBN	8029	.	GRCh37	10	16882501	16882501	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	30	126	1	ENST00000377833.4:c.9860C>T	p.Thr3287Ile	p.T3287I	ENST00000377833	NM_001081.3	3287	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS7113.1	9860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGTCCAA	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	62/67	.	.	.	.	.	.	.	.	.	62/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	deleterious(0.01)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Thr3287Ile,ENST00000377833,;	9926	127	99	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17401546	17401546	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs193920832	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	130	341	0	ENST00000377602.4:c.344G>A	p.Trp115Ter	p.W115*	ENST00000377602	NM_001004470.1	115	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS31158.1	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GTTTCCATGGA	NONE	.	.	hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,PIRSF_domain:PIRSF005557	.	.	ENSP00000366827	.	4/8	.	.	.	.	.	.	.	.	rs193920832,COSM1179678	4/8	PASS	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	0,1	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	SNV	ST8SIA6,stop_gained,p.Trp115Ter,ENST00000377602,;	419	341	353	SUCCESS
PRKG1	5592	.	GRCh37	10	53227585	53227585	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	46	150	0	ENST00000373985.1:c.500C>T	p.Ala167Val	p.A167V	ENST00000373985	NM_001098512.2	167	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7244.1	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCGACCG	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,PROSITE_patterns:PS00889,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF51206	.	.	ENSP00000363092	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.Ala52Val,ENST00000373976,;PRKG1,missense_variant,p.Ala179Val,ENST00000401604,;PRKG1,missense_variant,p.Ala167Val,ENST00000373985,;PRKG1,missense_variant,p.Ala194Val,ENST00000373980,;	998	150	115	SUCCESS
KIAA1377	0	.	GRCh37	11	101833467	101833467	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	227	22	268	0	ENST00000263468.8:c.1701T>C	p.His567=	p.H567=	ENST00000263468	NM_020802.2	567	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS31658.1	1701	MUTECT|MUSE|VARSCANS	.	ATCCATGAGAG	NONE	.	.	Pfam_domain:PF15352,hmmpanther:PTHR31191	.	.	ENSP00000263468	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,synonymous_variant,p.%3D,ENST00000537689,;KIAA1377,synonymous_variant,p.%3D,ENST00000263468,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	1971	268	250	SUCCESS
ACAT1	38	.	GRCh37	11	108018101	108018101	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	56	0	ENST00000265838.4:c.1268T>G	p.Leu423Arg	p.L423R	ENST00000265838	NM_000019.3	423	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8339.1	1268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTAATTC	NONE	.	.	Superfamily_domains:SSF53901,PIRSF_domain:PIRSF000429,TIGRFAM_domain:TIGR01930,Pfam_domain:PF02803,Gene3D:3.40.47.10,hmmpanther:PTHR18919:SF79,hmmpanther:PTHR18919	.	.	ENSP00000265838	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000265838	Transcript	.	.	ENSG00000075239	93	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	THIL_HUMAN	ACAT1	HGNC	E9PKF3_HUMAN	.	UPI0000136E41	SNV	ACAT1,missense_variant,p.Leu423Arg,ENST00000265838,;ACAT1,non_coding_transcript_exon_variant,,ENST00000533597,;ACAT1,downstream_gene_variant,,ENST00000531813,;ACAT1,downstream_gene_variant,,ENST00000533610,;ACAT1,downstream_gene_variant,,ENST00000532792,;	1359	56	58	SUCCESS
OR52B4	143496	.	GRCh37	11	4389145	4389145	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	55	168	0	ENST00000408920.2:c.381C>A	p.Ala127=	p.A127=	ENST00000408920	NM_001005161.3	127	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS41609.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATGGCAAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF89,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000386160	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408920	Transcript	.	.	ENSG00000221996	15209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O52B4_HUMAN	OR52B4	HGNC	.	.	UPI000013F0A2	SNV	OR52B4,synonymous_variant,p.%3D,ENST00000408920,;	472	168	148	SUCCESS
OR8H1	219469	.	GRCh37	11	56058116	56058116	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs772055350	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	50	120	0	ENST00000313022.2:c.423C>A	p.Cys141Ter	p.C141*	ENST00000313022	NM_001005199.1	141	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS31526.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGCAACA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323595	.	1/1	.	.	.	.	.	.	.	.	rs772055350	1/1	PASS	ENST00000313022	Transcript	.	.	ENSG00000181693	14824	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8H1_HUMAN	OR8H1	HGNC	.	.	UPI0000041BC0	SNV	OR8H1,stop_gained,p.Cys141Ter,ENST00000313022,;	451	120	122	SUCCESS
OSBP	5007	.	GRCh37	11	59361132	59361132	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	92	0	ENST00000263847.1:c.1623G>C	p.Gln541His	p.Q541H	ENST00000263847	NM_002556.2	541	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS7974.1	1623	MUTECT|MUSE|VARSCANS	.	ATTTCCTGACG	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF52,Pfam_domain:PF01237,Superfamily_domains:0051579	.	.	ENSP00000263847	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000263847	Transcript	.	.	ENSG00000110048	8503	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OSBP1_HUMAN	OSBP	HGNC	B4DR25_HUMAN	.	UPI0000130EAF	SNV	OSBP,missense_variant,p.Gln541His,ENST00000263847,;MIR3162,downstream_gene_variant,,ENST00000581818,;OSBP,non_coding_transcript_exon_variant,,ENST00000528903,;OSBP,intron_variant,,ENST00000525357,;	2103	92	80	SUCCESS
OR56A3	390083	.	GRCh37	11	5968754	5968754	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763056940	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	104	0	ENST00000329564.6:c.178C>T	p.His60Tyr	p.H60Y	ENST00000329564	NM_001003443.2	60	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS41614.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCACCAG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF40,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000331572	.	1/1	.	.	.	.	.	.	.	.	rs763056940	1/1	PASS	ENST00000329564	Transcript	.	.	ENSG00000184478	14786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0.02)	.	O56A3_HUMAN	OR56A3	HGNC	.	.	UPI0000041BF7	SNV	OR56A3,missense_variant,p.His60Tyr,ENST00000329564,;AC025016.1,downstream_gene_variant,,ENST00000528915,;	185	104	128	SUCCESS
STARD10	10809	.	GRCh37	11	72470359	72470359	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760513932	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	57	162	0	ENST00000334805.6:c.275G>T	p.Arg92Leu	p.R92L	ENST00000334805	NM_006645.2	92	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS41688.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGGTAC	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR19308,hmmpanther:PTHR19308:SF7,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000335247	.	3/7	.	.	.	.	.	.	.	.	rs760513932	3/7	PASS	ENST00000334805	Transcript	.	.	ENSG00000214530	10666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PCTL_HUMAN	STARD10	HGNC	F5H8G1_HUMAN,F5H5A8_HUMAN,F5H1Z6_HUMAN,F5H0V7_HUMAN	.	UPI0000035BCF	SNV	STARD10,missense_variant,p.Arg46Leu,ENST00000535054,;STARD10,missense_variant,p.Arg63Leu,ENST00000545082,;STARD10,missense_variant,p.Arg46Leu,ENST00000538536,;STARD10,missense_variant,p.Arg92Leu,ENST00000543304,;STARD10,missense_variant,p.Arg63Leu,ENST00000539138,;STARD10,missense_variant,p.Arg23Leu,ENST00000544767,;STARD10,missense_variant,p.Arg92Leu,ENST00000334805,;STARD10,missense_variant,p.Arg23Leu,ENST00000536728,;STARD10,missense_variant,p.Arg92Leu,ENST00000546314,;STARD10,missense_variant,p.Arg92Leu,ENST00000542989,;STARD10,missense_variant,p.Arg92Leu,ENST00000537947,;ARAP1,intron_variant,,ENST00000359373,;STARD10,upstream_gene_variant,,ENST00000400925,;STARD10,upstream_gene_variant,,ENST00000537351,;STARD10,downstream_gene_variant,,ENST00000536290,;STARD10,non_coding_transcript_exon_variant,,ENST00000538437,;STARD10,non_coding_transcript_exon_variant,,ENST00000535267,;STARD10,upstream_gene_variant,,ENST00000543089,;STARD10,upstream_gene_variant,,ENST00000535075,;	1195	162	140	SUCCESS
OR10A6	390093	.	GRCh37	11	7949557	7949557	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	88	248	0	ENST00000309838.2:c.653A>G	p.Tyr218Cys	p.Y218C	ENST00000309838	NM_001004461.1	218	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS31420.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTAAGAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF30,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000312470	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309838	Transcript	.	.	ENSG00000175393	15132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O10A6_HUMAN	OR10A6	HGNC	.	.	UPI0000041DF4	SNV	OR10A6,missense_variant,p.Tyr218Cys,ENST00000309838,;	653	248	245	SUCCESS
SYTL2	54843	.	GRCh37	11	85407366	85407366	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1201074769	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	82	241	0	ENST00000528231.1:c.2519A>G	p.Asn840Ser	p.N840S	ENST00000528231	NM_001162951.1	840	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS31651.1	3533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGTTGGTG	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	.	ENSP00000346576	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000354566	Transcript	.	.	ENSG00000137501	15585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.233)	.	tolerated(0.14)	.	SYTL2_HUMAN	SYTL2	HGNC	Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN	.	UPI0000352C78	SNV	SYTL2,missense_variant,p.Asn816Ser,ENST00000524452,;SYTL2,missense_variant,p.Asn841Ser,ENST00000316356,;SYTL2,missense_variant,p.Asn1178Ser,ENST00000354566,;SYTL2,missense_variant,p.Asn816Ser,ENST00000389960,;SYTL2,missense_variant,p.Asn557Ser,ENST00000530351,;SYTL2,missense_variant,p.Asn840Ser,ENST00000528231,;SYTL2,missense_variant,p.Asn1686Ser,ENST00000359152,;SYTL2,missense_variant,p.Asn808Ser,ENST00000527523,;SYTL2,missense_variant,p.Asn1162Ser,ENST00000525423,;SYTL2,missense_variant,p.Asn282Ser,ENST00000529581,;SYTL2,missense_variant,p.Asn242Ser,ENST00000533892,;SYTL2,missense_variant,p.Asn282Ser,ENST00000525702,;SYTL2,missense_variant,p.Asn271Ser,ENST00000389958,;SYTL2,3_prime_UTR_variant,,ENST00000532995,;SYTL2,3_prime_UTR_variant,,ENST00000389959,;SYTL2,non_coding_transcript_exon_variant,,ENST00000525692,;SYTL2,non_coding_transcript_exon_variant,,ENST00000531496,;SYTL2,non_coding_transcript_exon_variant,,ENST00000529662,;	3545	241	214	SUCCESS
FAT3	120114	.	GRCh37	11	92616466	92616466	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	68	0	ENST00000298047.6:c.12844G>A	p.Val4282Met	p.V4282M	ENST00000298047		4282	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	.	12844	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCGTGTGC	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.849)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Val617Met,ENST00000533797,;FAT3,missense_variant,p.Val4282Met,ENST00000298047,;FAT3,missense_variant,p.Val4282Met,ENST00000409404,;FAT3,missense_variant,p.Val4132Met,ENST00000525166,;FAT3,non_coding_transcript_exon_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	12861	68	53	SUCCESS
DHX37	57647	.	GRCh37	12	125434543	125434543	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	124	0	ENST00000308736.2:c.3279G>T	p.Lys1093Asn	p.K1093N	ENST00000308736	NM_032656.3	1093	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9261.1	3279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCTTCAG	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99	.	.	ENSP00000311135	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Lys1093Asn,ENST00000308736,;DHX37,missense_variant,p.Lys880Asn,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000542400,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;DHX37,upstream_gene_variant,,ENST00000507267,;	3378	124	86	SUCCESS
CDKN1B	1027	.	GRCh37	12	12871119	12871119	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	550	337	959	0	ENST00000228872.4:c.346G>T	p.Ala116Ser	p.A116S	ENST00000228872	NM_004064.3	116	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8653.1	346	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CGGCGGCGCCT	NONE	.	.	hmmpanther:PTHR10265:SF9,hmmpanther:PTHR10265	.	.	ENSP00000228872	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000228872	Transcript	.	.	ENSG00000111276	1785	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated(0.47)	.	CDN1B_HUMAN	CDKN1B	HGNC	Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN	.	UPI0000035C92	SNV	CDKN1B,missense_variant,p.Ala116Ser,ENST00000228872,;CDKN1B,missense_variant,p.Ala116Ser,ENST00000396340,;CDKN1B,intron_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000477087,;	1062	959	888	SUCCESS
KRT86	3892	.	GRCh37	12	52702155	52702155	+	intron_variant	Intron	SNP	C	C	A	rs753738037	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	29	0	ENST00000293525.5:c.1280-33C>A		p.*427*	ENST00000293525	NM_002284.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41785.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGCCTGAC	NONE	.	.	.	.	.	ENSP00000293525	.	.	.	.	.	.	.	.	.	.	rs753738037	.	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,intron_variant,,ENST00000293525,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;RP11-845M18.6,non_coding_transcript_exon_variant,,ENST00000552441,;	.	29	27	SUCCESS
MON2	23041	.	GRCh37	12	62946910	62946910	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	54	161	0	ENST00000393630.3:c.3169G>T	p.Gly1057Ter	p.G1057*	ENST00000393630		1057	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS31849.1	3166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATGGAACT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000377252	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,stop_gained,p.Gly1056Ter,ENST00000546600,;MON2,stop_gained,p.Gly1057Ter,ENST00000393630,;MON2,stop_gained,p.Gly1057Ter,ENST00000280379,;MON2,stop_gained,p.Gly1056Ter,ENST00000552115,;MON2,stop_gained,p.Gly1056Ter,ENST00000393629,;MON2,stop_gained,p.Gly1056Ter,ENST00000393632,;MON2,stop_gained,p.Gly1033Ter,ENST00000552738,;MON2,3_prime_UTR_variant,,ENST00000547095,;	3557	161	166	SUCCESS
CPSF6	11052	.	GRCh37	12	69652698	69652698	+	synonymous_variant	Silent	SNP	G	G	T	rs559355987	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	80	0	ENST00000435070.2:c.1023G>T	p.Pro341=	p.P341=	ENST00000435070	NM_007007.2	341	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8988.1	1023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGCATCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF3	.	.	ENSP00000391774	.	6/10	.	.	.	.	.	.	.	.	rs559355987,COSM194654,COSM194655	6/10	PASS	ENST00000435070	Transcript	.	.	ENSG00000111605	13871	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	CPSF6_HUMAN	CPSF6	HGNC	.	.	UPI00001FC746	SNV	CPSF6,synonymous_variant,p.%3D,ENST00000266679,;CPSF6,synonymous_variant,p.%3D,ENST00000435070,;CPSF6,synonymous_variant,p.%3D,ENST00000456847,;CPSF6,intron_variant,,ENST00000551516,;CPSF6,downstream_gene_variant,,ENST00000550987,;CPSF6,downstream_gene_variant,,ENST00000547486,;	1133	80	70	SUCCESS
PHC1	1911	.	GRCh37	12	9083317	9083317	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756274493	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	114	0	ENST00000543824.1:c.899G>A	p.Gly300Asp	p.G300D	ENST00000543824		300	gGt/gAt	0	.	A:0	.	A:0	.	A	G/D	protein_coding	YES	CCDS8597.1	899	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	AATGGGTGGTG	NONE	by1000G	.	hmmpanther:PTHR12247:SF21,hmmpanther:PTHR12247	A:0	.	ENSP00000440674	A:0	8/16	.	.	.	.	.	.	.	.	rs756274493	8/16	PASS	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	A:0.001	deleterious_low_confidence(0.02)	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,missense_variant,p.Gly300Asp,ENST00000543824,;PHC1,missense_variant,p.Gly79Asp,ENST00000536844,;PHC1,missense_variant,p.Gly255Asp,ENST00000433083,;PHC1,missense_variant,p.Gly300Asp,ENST00000544916,;PHC1,intron_variant,,ENST00000542346,;PHC1,downstream_gene_variant,,ENST00000539063,;PHC1,upstream_gene_variant,,ENST00000537610,;PHC1,non_coding_transcript_exon_variant,,ENST00000433847,;PHC1,non_coding_transcript_exon_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,upstream_gene_variant,,ENST00000535510,;PHC1,upstream_gene_variant,,ENST00000540809,;	1231	114	76	SUCCESS
OR4M2	390538	.	GRCh37	15	22369137	22369137	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	58	275	0	ENST00000332663.2:c.562G>T	p.Ala188Ser	p.A188S	ENST00000332663	NM_001004719.2	188	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32172.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTGCCTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	COSM3706486	1/1	PASS	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.02)	1	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,missense_variant,p.Ala188Ser,ENST00000332663,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	660	275	235	SUCCESS
SLC12A6	9990	.	GRCh37	15	34528262	34528262	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs751234919	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	55	145	1	ENST00000354181.3:c.3181A>C	p.Lys1061Gln	p.K1061Q	ENST00000354181		1061	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS58352.1	3181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTTTTGTC	NONE	.	.	hmmpanther:PTHR11827:SF51,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000346112	.	24/26	.	.	.	.	.	.	.	.	rs751234919	24/26	PASS	ENST00000354181	Transcript	1	.	ENSG00000140199	10914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.21)	.	S12A6_HUMAN	SLC12A6	HGNC	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN	.	UPI0000135427	SNV	SLC12A6,missense_variant,p.Lys1061Gln,ENST00000560611,;SLC12A6,missense_variant,p.Lys1052Gln,ENST00000558589,;SLC12A6,missense_variant,p.Lys1002Gln,ENST00000397702,;SLC12A6,missense_variant,p.Lys873Gln,ENST00000560164,;SLC12A6,missense_variant,p.Lys1061Gln,ENST00000354181,;SLC12A6,missense_variant,p.Lys1002Gln,ENST00000458406,;SLC12A6,missense_variant,p.Lys1046Gln,ENST00000397707,;SLC12A6,missense_variant,p.Lys1010Gln,ENST00000290209,;SLC12A6,missense_variant,p.Lys873Gln,ENST00000451844,;SLC12A6,missense_variant,p.Lys1061Gln,ENST00000558667,;SLC12A6,3_prime_UTR_variant,,ENST00000559664,;SLC12A6,3_prime_UTR_variant,,ENST00000561080,;SLC12A6,3_prime_UTR_variant,,ENST00000559523,;SLC12A6,downstream_gene_variant,,ENST00000559076,;SLC12A6,downstream_gene_variant,,ENST00000559441,;SLC12A6,downstream_gene_variant,,ENST00000558950,;	3674	146	153	SUCCESS
PRTG	283659	.	GRCh37	15	55965587	55965587	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	99	0	ENST00000389286.4:c.1834A>G	p.Lys612Glu	p.K612E	ENST00000389286	NM_173814.4	612	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS42040.1	1834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTTGGGCG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF20,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000373937	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	tolerated(0.06)	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,missense_variant,p.Lys612Glu,ENST00000389286,;PRTG,missense_variant,p.Lys147Glu,ENST00000561465,;PRTG,downstream_gene_variant,,ENST00000559842,;	1882	99	94	SUCCESS
IGDCC3	9543	.	GRCh37	15	65624285	65624285	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	24	0	ENST00000327987.4:c.1142A>G	p.Asn381Ser	p.N381S	ENST00000327987	NM_004884.3	381	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS10205.1	1142	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGTTGTTATTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF106,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332773	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.425)	.	tolerated(0.09)	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,missense_variant,p.Asn244Ser,ENST00000558354,;IGDCC3,missense_variant,p.Asn381Ser,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,non_coding_transcript_exon_variant,,ENST00000559231,;	1394	24	14	SUCCESS
CSPG4	1464	.	GRCh37	15	75981258	75981258	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	55	0	ENST00000308508.5:c.2148G>T	p.Gly716=	p.G716=	ENST00000308508	NM_001897.4	716	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10284.1	2148	MUTECT|MUSE|VARSCANS	.	CCTGCCCCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	.	ENSP00000312506	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,synonymous_variant,p.%3D,ENST00000308508,;	2241	55	53	SUCCESS
TSC2	7249	.	GRCh37	16	2108810	2108810	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs45517140	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	41	0	ENST00000219476.3:c.911G>A	p.Trp304Ter	p.W304*	ENST00000219476	NM_000548.3	304	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS10458.1	911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	TCTCTGGGGAG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF11864,Superfamily_domains:SSF48371,Prints_domain:PR01431	.	.	ENSP00000219476	.	10/42	.	.	.	.	.	.	.	.	rs45517140,CM090987	10/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	11112665	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Trp267Ter,ENST00000439673,;TSC2,stop_gained,p.Trp304Ter,ENST00000219476,;TSC2,stop_gained,p.Trp304Ter,ENST00000353929,;TSC2,stop_gained,p.Trp315Ter,ENST00000568454,;TSC2,stop_gained,p.Trp304Ter,ENST00000350773,;TSC2,stop_gained,p.Trp116Ter,ENST00000467949,;TSC2,stop_gained,p.Trp255Ter,ENST00000382538,;TSC2,stop_gained,p.Trp304Ter,ENST00000401874,;TSC2,downstream_gene_variant,,ENST00000432909,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,upstream_gene_variant,,ENST00000463601,;TSC2,downstream_gene_variant,,ENST00000568692,;TSC2,upstream_gene_variant,,ENST00000568566,;TSC2,upstream_gene_variant,,ENST00000490108,;TSC2,downstream_gene_variant,,ENST00000461648,;	1541	41	27	SUCCESS
ZP2	7783	.	GRCh37	16	21212847	21212847	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs776951625	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	61	187	0	ENST00000574002.1:c.1537G>T	p.Glu513Ter	p.E513*	ENST00000574002		513	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS10596.1	1537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTCGTTTT	NONE	byFrequency	.	PROSITE_profiles:PS51034,hmmpanther:PTHR23343:SF4,hmmpanther:PTHR23343,Pfam_domain:PF00100,SMART_domains:SM00241	.	.	ENSP00000460971	.	15/20	.	.	.	.	.	.	.	.	rs776951625	15/20	PASS	ENST00000574002	Transcript	.	.	ENSG00000103310	13188	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZP2_HUMAN	ZP2	HGNC	.	.	UPI000013C45C	SNV	ZP2,stop_gained,p.Glu504Ter,ENST00000574091,;ZP2,stop_gained,p.Glu513Ter,ENST00000219593,;ZP2,stop_gained,p.Glu513Ter,ENST00000574002,;AF001550.7,intron_variant,,ENST00000572747,;ZP2,downstream_gene_variant,,ENST00000572752,;ZP2,downstream_gene_variant,,ENST00000573114,;ZP2,downstream_gene_variant,,ENST00000576162,;	2020	187	119	SUCCESS
ERN2	10595	.	GRCh37	16	23713770	23713770	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	35	1	ENST00000256797.4:c.1166G>C	p.Ser389Thr	p.S389T	ENST00000256797	NM_033266.3	389	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS32407.1	1166	SOMATICSNIPER|MUTECT|VARSCANS	.	CAGTGCTGGGT	NONE	.	.	hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954	.	.	ENSP00000256797	.	10/22	.	.	.	.	.	.	.	.	COSM3507866	10/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.991)	.	deleterious(0.01)	1	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Ser341Thr,ENST00000457008,;ERN2,missense_variant,p.Ser389Thr,ENST00000256797,;ERN2,3_prime_UTR_variant,,ENST00000562562,;ERN2,downstream_gene_variant,,ENST00000561478,;ERN2,downstream_gene_variant,,ENST00000566565,;	1335	36	18	SUCCESS
AXIN1	8312	.	GRCh37	16	347107	347107	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	34	0	ENST00000262320.3:c.1904G>A	p.Trp635Ter	p.W635*	ENST00000262320	NM_003502.3	635	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS10405.1	1904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCACTGC	NONE	.	.	.	.	.	ENSP00000262320	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Trp635Ter,ENST00000262320,;AXIN1,stop_gained,p.Trp635Ter,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	2276	34	16	SUCCESS
SETD6	79918	.	GRCh37	16	58552349	58552349	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs11865588	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	49	168	0	ENST00000219315.4:c.1018G>T	p.Asp340Tyr	p.D340Y	ENST00000219315		340	Gat/Tat	0	A:0.0155	A:0.0106	.	A:0	.	T	D/Y	protein_coding	YES	CCDS54013.1	1018	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGATTTC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Gene3D:2h21A02,Pfam_domain:PF09273,PIRSF_domain:PIRSF011771,Superfamily_domains:0040997	A:0	A:0.0001	ENSP00000219315	A:0	7/8	.	.	.	.	.	.	.	.	rs11865588	7/8	PASS	ENST00000219315	Transcript	.	A:0.0028	ENSG00000103037	26116	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.853)	A:0	deleterious(0.01)	.	SETD6_HUMAN	SETD6	HGNC	.	.	UPI000013C779	SNV	SETD6,missense_variant,p.Asp340Tyr,ENST00000219315,;SETD6,missense_variant,p.Asp271Tyr,ENST00000394266,;SETD6,missense_variant,p.Asp316Tyr,ENST00000310682,;SETD6,missense_variant,p.Asp102Tyr,ENST00000447443,;NDRG4,downstream_gene_variant,,ENST00000566192,;CNOT1,downstream_gene_variant,,ENST00000317147,;CNOT1,downstream_gene_variant,,ENST00000569240,;NDRG4,downstream_gene_variant,,ENST00000258187,;NDRG4,downstream_gene_variant,,ENST00000394282,;NDRG4,downstream_gene_variant,,ENST00000570248,;NDRG4,downstream_gene_variant,,ENST00000394279,;CNOT1,downstream_gene_variant,,ENST00000245138,;SETD6,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,3_prime_UTR_variant,,ENST00000422445,;SETD6,3_prime_UTR_variant,,ENST00000427443,;SETD6,non_coding_transcript_exon_variant,,ENST00000463954,;SETD6,non_coding_transcript_exon_variant,,ENST00000491587,;CNOT1,downstream_gene_variant,,ENST00000569924,;SETD6,downstream_gene_variant,,ENST00000467320,;SETD6,downstream_gene_variant,,ENST00000492050,;SETD6,downstream_gene_variant,,ENST00000470003,;SETD6,downstream_gene_variant,,ENST00000468223,;CNOT1,downstream_gene_variant,,ENST00000567188,;CNOT1,downstream_gene_variant,,ENST00000563130,;	1068	168	86	SUCCESS
PDPR	55066	.	GRCh37	16	70176519	70176519	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	26	78	0	ENST00000288050.4:c.1535C>G	p.Ser512Cys	p.S512C	ENST00000288050	NM_017990.3	512	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS45520.1	1535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCTGAAG	NONE	.	.	Gene3D:3.30.1360.120,Superfamily_domains:SSF103025	.	.	ENSP00000288050	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.479)	.	deleterious(0.01)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Ser512Cys,ENST00000288050,;PDPR,missense_variant,p.Ser412Cys,ENST00000398122,;PDPR,missense_variant,p.Ser512Cys,ENST00000568530,;PDPR,upstream_gene_variant,,ENST00000563930,;PDPR,upstream_gene_variant,,ENST00000569042,;PDPR,upstream_gene_variant,,ENST00000542659,;PDPR,upstream_gene_variant,,ENST00000567896,;PDPR,upstream_gene_variant,,ENST00000567046,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,3_prime_UTR_variant,,ENST00000565186,;PDPR,non_coding_transcript_exon_variant,,ENST00000561920,;PDPR,upstream_gene_variant,,ENST00000564563,;	2492	78	39	SUCCESS
ADAT1	23536	.	GRCh37	16	75654670	75654670	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776356689	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	50	0	ENST00000307921.3:c.28C>A	p.Leu10Ile	p.L10I	ENST00000307921	NM_012091.3	10	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS10922.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATAGCTGAG	NONE	.	.	hmmpanther:PTHR10910,SMART_domains:SM00552	.	.	ENSP00000310015	.	3/11	.	.	.	.	.	.	.	.	rs776356689	3/11	PASS	ENST00000307921	Transcript	.	.	ENSG00000065457	228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	ADAT1_HUMAN	ADAT1	HGNC	H3BU72_HUMAN,H3BP18_HUMAN	.	UPI000006FD70	SNV	ADAT1,missense_variant,p.Leu10Ile,ENST00000307921,;ADAT1,missense_variant,p.Leu10Ile,ENST00000562374,;ADAT1,missense_variant,p.Leu10Ile,ENST00000567281,;ADAT1,missense_variant,p.Leu10Ile,ENST00000564657,;ADAT1,non_coding_transcript_exon_variant,,ENST00000565109,;ADAT1,missense_variant,p.Leu10Ile,ENST00000568001,;ADAT1,missense_variant,p.Leu10Ile,ENST00000566445,;	174	50	33	SUCCESS
CCT6B	10693	.	GRCh37	17	33281459	33281459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs983913925	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	96	0	ENST00000314144.5:c.496G>A	p.Asp166Asn	p.D166N	ENST00000314144	NM_006584.3	166	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32617.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCAGCCA	NONE	.	.	hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF58,TIGRFAM_domain:TIGR02347,Gene3D:3.30.260.10,Pfam_domain:PF00118,Superfamily_domains:SSF54849	.	.	ENSP00000327191	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000314144	Transcript	.	.	ENSG00000132141	1621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.14)	.	TCPW_HUMAN	CCT6B	HGNC	J3KRI6_HUMAN	.	UPI000013F740	SNV	CCT6B,missense_variant,p.Asp166Asn,ENST00000314144,;CCT6B,missense_variant,p.Asp121Asn,ENST00000436961,;CCT6B,missense_variant,p.Asp24Asn,ENST00000585073,;CCT6B,missense_variant,p.Asp166Asn,ENST00000421975,;CCT6B,upstream_gene_variant,,ENST00000577307,;	612	96	82	SUCCESS
KRT13	3860	.	GRCh37	17	39659673	39659673	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746117318	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	81	0	ENST00000246635.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000246635	NM_153490.2	201	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11396.1	601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCAGGG	CODON|p.R201H|c.602G>A|3,BUFFER|p.V204M|c.610G>A|3	byFrequency	.	hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000246635	.	3/8	.	.	.	.	.	.	.	.	rs746117318,COSM3402887	3/8	PASS	ENST00000246635	Transcript	.	.	ENSG00000171401	6415	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.996)	.	deleterious(0.02)	0,1	K1C13_HUMAN	KRT13	HGNC	K7ERE3_HUMAN,K7EMD9_HUMAN	.	UPI000013CBF6	SNV	KRT13,missense_variant,p.Arg201Cys,ENST00000246635,;KRT13,missense_variant,p.Arg94Cys,ENST00000590425,;KRT13,missense_variant,p.Arg201Cys,ENST00000587544,;KRT13,missense_variant,p.Arg201Cys,ENST00000336861,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	648	81	62	SUCCESS
RSAD1	55316	.	GRCh37	17	48561893	48561893	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	28	0	ENST00000258955.2:c.1198C>T	p.Gln400Ter	p.Q400*	ENST00000258955	NM_018346.1	400	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11569.1	1198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGCAGCTG	NONE	.	.	hmmpanther:PTHR13932:SF5,hmmpanther:PTHR13932,Pfam_domain:PF06969,Superfamily_domains:SSF102114	.	.	ENSP00000258955	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000258955	Transcript	.	.	ENSG00000136444	25634	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSAD1_HUMAN	RSAD1	HGNC	K7EKD3_HUMAN	.	UPI0000070E2E	SNV	RSAD1,stop_gained,p.Gln400Ter,ENST00000258955,;RSAD1,downstream_gene_variant,,ENST00000510554,;RSAD1,3_prime_UTR_variant,,ENST00000506211,;RSAD1,3_prime_UTR_variant,,ENST00000515221,;RSAD1,3_prime_UTR_variant,,ENST00000504284,;RSAD1,non_coding_transcript_exon_variant,,ENST00000513650,;RSAD1,downstream_gene_variant,,ENST00000443328,;RSAD1,downstream_gene_variant,,ENST00000509398,;	1283	28	41	SUCCESS
MSI2	124540	.	GRCh37	17	55693354	55693354	+	synonymous_variant	Silent	SNP	G	G	A	rs145999502	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	43	0	ENST00000284073.2:c.561G>A	p.Pro187=	p.P187=	ENST00000284073	NM_138962.2	187	ccG/ccA	0	A:0.0014	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS11596.1	561	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGAAAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF324,PROSITE_profiles:PS50102	A:0	A:0	ENSP00000284073	A:0	9/14	.	.	.	.	.	.	.	.	rs145999502,COSM4130430,COSM4130431	9/14	PASS	ENST00000284073	Transcript	.	A:0.0002	ENSG00000153944	18585	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	A:0	.	0,1,1	MSI2H_HUMAN	MSI2	HGNC	.	.	UPI0000070D73	SNV	MSI2,synonymous_variant,p.%3D,ENST00000284073,;MSI2,synonymous_variant,p.%3D,ENST00000416426,;MSI2,synonymous_variant,p.%3D,ENST00000579180,;MSI2,synonymous_variant,p.%3D,ENST00000322684,;MSI2,synonymous_variant,p.%3D,ENST00000442934,;RN7SL449P,upstream_gene_variant,,ENST00000464937,;MSI2,non_coding_transcript_exon_variant,,ENST00000579205,;MSI2,non_coding_transcript_exon_variant,,ENST00000579505,;MSI2,non_coding_transcript_exon_variant,,ENST00000577241,;	770	43	35	SUCCESS
APPBP2	10513	.	GRCh37	17	58533692	58533692	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	94	0	ENST00000083182.3:c.1112A>G	p.Asp371Gly	p.D371G	ENST00000083182	NM_006380.2	371	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS32699.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATCTTCA	NONE	.	.	hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF114	.	.	ENSP00000083182	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000083182	Transcript	.	.	ENSG00000062725	622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.22)	.	APBP2_HUMAN	APPBP2	HGNC	K7EIZ9_HUMAN	.	UPI000006D959	SNV	APPBP2,missense_variant,p.Asp371Gly,ENST00000083182,;APPBP2,downstream_gene_variant,,ENST00000592995,;APPBP2,3_prime_UTR_variant,,ENST00000589341,;	1400	94	96	SUCCESS
AXIN2	8313	.	GRCh37	17	63553964	63553964	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	94	0	ENST00000307078.5:c.775del	p.Ala259ArgfsTer3	p.A259Rfs*3	ENST00000307078	NM_004655.3	259	Gcg/cg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS11662.1	775	VARSCANI*|PINDEL	.	CACTCGCCGTGG	NONE	.	.	hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	.	ENSP00000302625	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	deletion	AXIN2,frameshift_variant,p.Ala259ArgfsTer3,ENST00000577278,;AXIN2,frameshift_variant,p.Ala259ArgfsTer3,ENST00000375702,;AXIN2,frameshift_variant,p.Ala259ArgfsTer3,ENST00000307078,;AXIN2,downstream_gene_variant,,ENST00000585045,;AXIN2,downstream_gene_variant,,ENST00000544103,;AXIN2,downstream_gene_variant,,ENST00000580513,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;	1089	94	97	SUCCESS
TRIM65	201292	.	GRCh37	17	73888160	73888160	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs867386555	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	99	0	ENST00000269383.3:c.851G>A	p.Cys284Tyr	p.C284Y	ENST00000269383	NM_173547.3	284	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS11732.1	851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACACAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24103:SF321,hmmpanther:PTHR24103	.	.	ENSP00000269383	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000269383	Transcript	.	.	ENSG00000141569	27316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.25)	.	TRI65_HUMAN	TRIM65	HGNC	.	.	UPI000015FC8E	SNV	TRIM65,missense_variant,p.Cys24Tyr,ENST00000592642,;TRIM65,missense_variant,p.Cys158Tyr,ENST00000543309,;TRIM65,missense_variant,p.Cys284Tyr,ENST00000269383,;TRIM65,missense_variant,p.Cys49Tyr,ENST00000591668,;TRIM65,intron_variant,,ENST00000540128,;RP11-552F3.10,upstream_gene_variant,,ENST00000587267,;TRIM65,downstream_gene_variant,,ENST00000540812,;	917	99	87	SUCCESS
ENGASE	64772	.	GRCh37	17	77080015	77080015	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1401925426	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	72	1	ENST00000579016.1:c.1424T>C	p.Val475Ala	p.V475A	ENST00000579016	NM_001042573.2	475	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS42394.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTTGGAA	NONE	.	.	hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.5)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.Val475Ala,ENST00000579016,;ENGASE,downstream_gene_variant,,ENST00000311595,;ENGASE,downstream_gene_variant,,ENST00000539857,;ENGASE,splice_donor_variant,,ENST00000584568,;ENGASE,upstream_gene_variant,,ENST00000585160,;ENGASE,3_prime_UTR_variant,,ENST00000300682,;ENGASE,non_coding_transcript_exon_variant,,ENST00000583041,;ENGASE,non_coding_transcript_exon_variant,,ENST00000577783,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,downstream_gene_variant,,ENST00000578419,;ENGASE,downstream_gene_variant,,ENST00000583646,;	1424	73	59	SUCCESS
EIF4A3	9775	.	GRCh37	17	78110084	78110084	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	49	252	0	ENST00000269349.3:c.1034A>T	p.Gln345Leu	p.Q345L	ENST00000269349	NM_014740.3	345	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11767.1	1034	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTGAGGG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF57,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000269349	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000269349	Transcript	.	.	ENSG00000141543	18683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.593)	.	deleterious(0.02)	.	IF4A3_HUMAN	EIF4A3	HGNC	.	.	UPI000012D374	SNV	EIF4A3,missense_variant,p.Gln345Leu,ENST00000269349,;EIF4A3,downstream_gene_variant,,ENST00000576547,;EIF4A3,non_coding_transcript_exon_variant,,ENST00000570625,;EIF4A3,non_coding_transcript_exon_variant,,ENST00000576573,;EIF4A3,non_coding_transcript_exon_variant,,ENST00000575978,;EIF4A3,downstream_gene_variant,,ENST00000570837,;EIF4A3,downstream_gene_variant,,ENST00000575668,;	1256	252	180	SUCCESS
DOK6	220164	.	GRCh37	18	67365697	67365697	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	106	0	ENST00000382713.5:c.467C>T	p.Thr156Ile	p.T156I	ENST00000382713	NM_152721.5	156	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS32841.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCACAATGC	NONE	.	.	PROSITE_profiles:PS51064,hmmpanther:PTHR21258:SF43,hmmpanther:PTHR21258,Pfam_domain:PF02174,Gene3D:2.30.29.30,SMART_domains:SM00310,Superfamily_domains:SSF50729	.	.	ENSP00000372160	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000382713	Transcript	.	.	ENSG00000206052	28301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.15)	.	DOK6_HUMAN	DOK6	HGNC	.	.	UPI000035EC7C	SNV	DOK6,missense_variant,p.Thr60Ile,ENST00000582992,;DOK6,missense_variant,p.Thr156Ile,ENST00000382713,;DOK6,non_coding_transcript_exon_variant,,ENST00000584435,;DOK6,non_coding_transcript_exon_variant,,ENST00000582172,;	657	106	106	SUCCESS
COL5A3	50509	.	GRCh37	19	10112250	10112250	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	93	0	ENST00000264828.3:c.1060G>A	p.Asp354Asn	p.D354N	ENST00000264828	NM_015719.3	354	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12222.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCAGGGC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	.	.	ENSP00000264828	.	8/67	.	.	.	.	.	.	.	.	.	8/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,missense_variant,p.Asp354Asn,ENST00000264828,;CTD-2553C6.1,downstream_gene_variant,,ENST00000592332,;	1146	93	123	SUCCESS
PPAN	56342	.	GRCh37	19	10218693	10218693	+	synonymous_variant	Silent	SNP	G	G	A	rs1429255237	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	22	74	0	ENST00000253107.7:c.396G>A	p.Glu132=	p.E132=	ENST00000253107	NM_020230.5	132	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS42498.1	396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGAGCAGCA	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR12661,hmmpanther:PTHR12661:SF5,Pfam_domain:PF04427,SMART_domains:SM00879	.	.	ENSP00000450710	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000556468	Transcript	.	.	ENSG00000130810	9227	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSF1_HUMAN	PPAN	HGNC	.	.	UPI000016A418	SNV	PPAN,synonymous_variant,p.%3D,ENST00000430370,;PPAN,synonymous_variant,p.%3D,ENST00000393793,;PPAN-P2RY11,synonymous_variant,p.%3D,ENST00000428358,;PPAN,synonymous_variant,p.%3D,ENST00000253107,;PPAN-P2RY11,synonymous_variant,p.%3D,ENST00000393796,;PPAN,synonymous_variant,p.%3D,ENST00000556468,;PPAN,synonymous_variant,p.%3D,ENST00000446223,;P2RY11,upstream_gene_variant,,ENST00000321826,;PPAN,upstream_gene_variant,,ENST00000444703,;SNORD105B,upstream_gene_variant,,ENST00000458770,;SNORD105,downstream_gene_variant,,ENST00000386910,;P2RY11,upstream_gene_variant,,ENST00000471843,;PPAN,non_coding_transcript_exon_variant,,ENST00000466025,;PPAN,upstream_gene_variant,,ENST00000486482,;PPAN,upstream_gene_variant,,ENST00000468881,;	423	74	114	SUCCESS
TNPO2	30000	.	GRCh37	19	12822419	12822419	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	56	0	ENST00000425528.1:c.899C>G	p.Pro300Arg	p.P300R	ENST00000425528		300	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS45991.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGGGATC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF17,hmmpanther:PTHR10527	.	.	ENSP00000407182	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000425528	Transcript	.	.	ENSG00000105576	19998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	TNPO2_HUMAN	TNPO2	HGNC	K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN	.	UPI000013F0EA	SNV	TNPO2,missense_variant,p.Pro300Arg,ENST00000356861,;TNPO2,missense_variant,p.Pro300Arg,ENST00000592287,;TNPO2,missense_variant,p.Pro300Arg,ENST00000441499,;TNPO2,missense_variant,p.Pro300Arg,ENST00000425528,;TNPO2,missense_variant,p.Pro300Arg,ENST00000450764,;TNPO2,missense_variant,p.Pro300Arg,ENST00000588216,;TNPO2,intron_variant,,ENST00000589956,;TNPO2,missense_variant,p.Pro300Arg,ENST00000585886,;TNPO2,non_coding_transcript_exon_variant,,ENST00000588151,;TNPO2,downstream_gene_variant,,ENST00000586775,;TNPO2,upstream_gene_variant,,ENST00000588491,;TNPO2,downstream_gene_variant,,ENST00000588484,;TNPO2,downstream_gene_variant,,ENST00000587654,;	1257	56	69	SUCCESS
PRKACA	5566	.	GRCh37	19	14228387	14228387	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	20	0	ENST00000308677.4:c.-28G>C		p.*10*	ENST00000308677	NM_002730.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12304.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCCGGAGC	NONE	.	.	.	.	.	ENSP00000309591	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000308677	Transcript	1	.	ENSG00000072062	9380	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAPCA_HUMAN	PRKACA	HGNC	K7EMV1_HUMAN	.	UPI0000001C8D	SNV	PRKACA,5_prime_UTR_variant,,ENST00000590853,;PRKACA,5_prime_UTR_variant,,ENST00000308677,;PRKACA,intron_variant,,ENST00000589284,;ASF1B,downstream_gene_variant,,ENST00000592798,;ASF1B,downstream_gene_variant,,ENST00000474890,;PRKACA,upstream_gene_variant,,ENST00000589994,;ASF1B,downstream_gene_variant,,ENST00000263382,;CTB-55O6.10,upstream_gene_variant,,ENST00000590715,;ASF1B,downstream_gene_variant,,ENST00000589468,;PRKACA,upstream_gene_variant,,ENST00000536649,;ASF1B,downstream_gene_variant,,ENST00000590835,;	170	20	33	SUCCESS
EPHX3	79852	.	GRCh37	19	15343002	15343002	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	19	0	ENST00000221730.3:c.21C>A	p.Thr7=	p.T7=	ENST00000221730	NM_024794.2	7	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12327.1	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGGTCAC	NONE	.	.	hmmpanther:PTHR10992:SF277,hmmpanther:PTHR10992	.	.	ENSP00000221730	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000221730	Transcript	.	.	ENSG00000105131	23760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHX3_HUMAN	EPHX3	HGNC	M0QX48_HUMAN	.	UPI000007047E	SNV	EPHX3,synonymous_variant,p.%3D,ENST00000435261,;EPHX3,synonymous_variant,p.%3D,ENST00000602233,;EPHX3,synonymous_variant,p.%3D,ENST00000594042,;EPHX3,synonymous_variant,p.%3D,ENST00000221730,;BRD4,downstream_gene_variant,,ENST00000263377,;AC004257.3,downstream_gene_variant,,ENST00000602793,;	242	19	27	SUCCESS
SCAMP4	113178	.	GRCh37	19	1924197	1924197	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	63	85	0	ENST00000316097.8:c.604G>C	p.Glu202Gln	p.E202Q	ENST00000316097	NM_079834.2	202	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS45903.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGGAGGCC	NONE	.	.	hmmpanther:PTHR10687:SF11,hmmpanther:PTHR10687	.	.	ENSP00000316007	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316097	Transcript	.	.	ENSG00000227500	30385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.28)	.	SCAM4_HUMAN	SCAMP4	HGNC	K7EJJ4_HUMAN,C9JWM2_HUMAN	.	UPI000006F786	SNV	SCAMP4,missense_variant,p.Glu202Gln,ENST00000316097,;SCAMP4,missense_variant,p.Glu168Gln,ENST00000409472,;SCAMP4,downstream_gene_variant,,ENST00000585335,;SCAMP4,downstream_gene_variant,,ENST00000489554,;SCAMP4,downstream_gene_variant,,ENST00000414057,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000472442,;SCAMP4,downstream_gene_variant,,ENST00000452128,;AC012615.1,upstream_gene_variant,,ENST00000367461,;	871	85	112	SUCCESS
C19orf35	0	.	GRCh37	19	2278616	2278616	+	synonymous_variant	Silent	SNP	C	C	T	rs200575519	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	52	126	0	ENST00000342063.3:c.579G>A	p.Ala193=	p.A193=	ENST00000342063	NM_198532.2	193	gcG/gcA	0	.	T:0	.	T:0.0014	.	T	A	protein_coding	YES	CCDS12087.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGCGCGCG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6	T:0	.	ENSP00000345102	T:0.001	3/4	.	.	.	.	.	.	.	.	rs200575519	3/4	PASS	ENST00000342063	Transcript	.	T:0.0004	ENSG00000188305	24793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CS035_HUMAN	C19orf35	HGNC	.	.	UPI00001C0E91	SNV	C19orf35,synonymous_variant,p.%3D,ENST00000342063,;C19orf35,intron_variant,,ENST00000590316,;	673	126	196	SUCCESS
NFIC	4782	.	GRCh37	19	3366645	3366645	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	25	88	0	ENST00000443272.2:c.11C>T	p.Ser4Phe	p.S4F	ENST00000443272	NM_001245002.1	4	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS59330.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGTCCCCGC	NONE	.	.	PROSITE_profiles:PS51080,hmmpanther:PTHR11492	.	.	ENSP00000396843	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious_low_confidence(0)	.	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,missense_variant,p.Ser4Phe,ENST00000590282,;NFIC,missense_variant,p.Ser4Phe,ENST00000341919,;NFIC,missense_variant,p.Ser4Phe,ENST00000443272,;NFIC,intron_variant,,ENST00000586919,;NFIC,intron_variant,,ENST00000395111,;NFIC,intron_variant,,ENST00000346156,;NFIC,intron_variant,,ENST00000589123,;	62	88	114	SUCCESS
SARS2	54938	.	GRCh37	19	39412662	39412662	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	73	156	0	ENST00000221431.6:c.393+216A>T		p.*131*	ENST00000221431	NM_017827.3	150		0	.	.	.	.	.	A	P	protein_coding	YES	CCDS54265.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTGGGAA	NONE	.	.	hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,TIGRFAM_domain:TIGR00414,Gene3D:1.10.287.40,PIRSF_domain:PIRSF001529	.	.	ENSP00000472847	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,synonymous_variant,p.%3D,ENST00000600042,;SARS2,intron_variant,,ENST00000448145,;SARS2,intron_variant,,ENST00000221431,;CTC-360G5.8,intron_variant,,ENST00000599996,;SARS2,intron_variant,,ENST00000594171,;SARS2,intron_variant,,ENST00000430193,;SARS2,upstream_gene_variant,,ENST00000598831,;SARS2,3_prime_UTR_variant,,ENST00000593754,;SARS2,non_coding_transcript_exon_variant,,ENST00000598598,;SARS2,intron_variant,,ENST00000455102,;SARS2,intron_variant,,ENST00000598343,;SARS2,upstream_gene_variant,,ENST00000598563,;SARS2,upstream_gene_variant,,ENST00000602034,;SARS2,upstream_gene_variant,,ENST00000600448,;SARS2,upstream_gene_variant,,ENST00000597490,;	475	156	182	SUCCESS
DPP9	91039	.	GRCh37	19	4695441	4695441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	53	148	0	ENST00000598800.1:c.1215G>T	p.Arg405Ser	p.R405S	ENST00000598800		405	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS45928.1	1302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCCTGGG	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171	.	.	ENSP00000262960	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.75)	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,missense_variant,p.Arg434Ser,ENST00000262960,;DPP9,missense_variant,p.Arg405Ser,ENST00000598800,;DPP9,missense_variant,p.Arg405Ser,ENST00000594671,;DPP9,missense_variant,p.Arg434Ser,ENST00000597849,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,intron_variant,,ENST00000599163,;DPP9,intron_variant,,ENST00000601764,;DPP9,upstream_gene_variant,,ENST00000599998,;DPP9,upstream_gene_variant,,ENST00000597253,;	1580	148	211	SUCCESS
FCAR	2204	.	GRCh37	19	55401023	55401023	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	50	0	ENST00000355524.3:c.658C>G	p.His220Asp	p.H220D	ENST00000355524	NM_002000.2	220	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS12907.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCACCAA	NONE	.	.	hmmpanther:PTHR11738:SF4,hmmpanther:PTHR11738	.	.	ENSP00000347714	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355524	Transcript	.	.	ENSG00000186431	3608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.62)	.	FCAR_HUMAN	FCAR	HGNC	A5Y2F0_HUMAN	.	UPI000011B429	SNV	FCAR,missense_variant,p.His124Asp,ENST00000345937,;FCAR,missense_variant,p.His111Asp,ENST00000353758,;FCAR,missense_variant,p.His220Asp,ENST00000355524,;FCAR,missense_variant,p.His186Asp,ENST00000391724,;FCAR,missense_variant,p.His208Asp,ENST00000359272,;FCAR,missense_variant,p.Pro183Arg,ENST00000391723,;FCAR,missense_variant,p.His112Asp,ENST00000391726,;FCAR,missense_variant,p.His198Asp,ENST00000391725,;FCAR,downstream_gene_variant,,ENST00000469767,;CTB-61M7.2,upstream_gene_variant,,ENST00000594721,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,downstream_gene_variant,,ENST00000488066,;	668	50	51	SUCCESS
TNNT1	7138	.	GRCh37	19	55652294	55652294	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764558702	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	101	0	ENST00000588981.1:c.344G>T	p.Arg115Leu	p.R115L	ENST00000588981	NM_003283.4	115	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS12917.1	344	MUTECT|MUSE	.	TGAAGCGCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11521:SF6,hmmpanther:PTHR11521,Pfam_domain:PF00992	.	.	ENSP00000467176	.	9/14	.	.	.	.	.	.	.	.	rs764558702	9/14	PASS	ENST00000588981	Transcript	1	.	ENSG00000105048	11948	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	TNNT1_HUMAN	TNNT1	HGNC	Q56R94_HUMAN,M0QZU8_HUMAN	.	UPI000016A37B	SNV	TNNT1,missense_variant,p.Arg104Leu,ENST00000536926,;TNNT1,missense_variant,p.Arg104Leu,ENST00000589226,;TNNT1,missense_variant,p.Arg45Leu,ENST00000585321,;TNNT1,missense_variant,p.Arg115Leu,ENST00000588981,;TNNT1,missense_variant,p.Arg104Leu,ENST00000356783,;TNNT1,missense_variant,p.Arg115Leu,ENST00000593046,;TNNT1,missense_variant,p.Arg63Leu,ENST00000593194,;TNNT1,missense_variant,p.Arg111Leu,ENST00000588147,;TNNT1,missense_variant,p.Arg115Leu,ENST00000291901,;TNNT1,missense_variant,p.Arg104Leu,ENST00000587758,;TNNT1,missense_variant,p.Arg45Leu,ENST00000587465,;TNNT1,intron_variant,,ENST00000588426,;TNNT1,upstream_gene_variant,,ENST00000586649,;TNNT1,upstream_gene_variant,,ENST00000589745,;TNNT1,non_coding_transcript_exon_variant,,ENST00000592920,;TNNT1,3_prime_UTR_variant,,ENST00000587089,;TNNT1,downstream_gene_variant,,ENST00000586282,;	549	101	85	SUCCESS
VAV1	7409	.	GRCh37	19	6772795	6772795	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1350601676	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	22	0	ENST00000602142.1:c.-24G>A		p.*8*	ENST00000602142	NM_005428.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12174.1	.	MUTECT|MUSE	.	GCACGGCCGGC	NONE	.	.	.	.	.	ENSP00000472929	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000602142	Transcript	.	.	ENSG00000141968	12657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VAV_HUMAN	VAV1	HGNC	.	.	UPI0000138213	SNV	VAV1,5_prime_UTR_variant,,ENST00000304076,;VAV1,5_prime_UTR_variant,,ENST00000596764,;VAV1,5_prime_UTR_variant,,ENST00000602142,;VAV1,upstream_gene_variant,,ENST00000539284,;	59	22	40	SUCCESS
LRRC8E	80131	.	GRCh37	19	7965152	7965152	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200370523	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	34	103	1	ENST00000306708.6:c.1745C>T	p.Ala582Val	p.A582V	ENST00000306708	NM_025061.4	582	gCg/gTg	0	.	T:0	.	T:0.0014	.	T	A/V	protein_coding	YES	CCDS12189.1	1745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGGCAT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF250,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	T:0	.	ENSP00000306524	T:0	3/3	.	.	.	.	.	.	.	.	rs200370523,rs746015307	3/3	PASS	ENST00000306708	Transcript	.	T:0.0002	ENSG00000171017	26272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0	tolerated(1)	.	LRC8E_HUMAN	LRRC8E	HGNC	M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN	.	UPI0000201F4F	SNV	LRRC8E,missense_variant,p.Ala582Val,ENST00000306708,;AC010336.1,missense_variant,p.Ala39Thr,ENST00000539278,;MAP2K7,upstream_gene_variant,,ENST00000545011,;MAP2K7,upstream_gene_variant,,ENST00000397979,;LRRC8E,downstream_gene_variant,,ENST00000599367,;LRRC8E,downstream_gene_variant,,ENST00000600345,;MAP2K7,upstream_gene_variant,,ENST00000397981,;MAP2K7,upstream_gene_variant,,ENST00000397983,;LRRC8E,downstream_gene_variant,,ENST00000598224,;LRRC8E,downstream_gene_variant,,ENST00000593511,;RN7SL115P,downstream_gene_variant,,ENST00000392196,;MAP2K7,upstream_gene_variant,,ENST00000468058,;MAP2K7,upstream_gene_variant,,ENST00000475022,;	1846	104	119	SUCCESS
YY1AP1	55249	.	GRCh37	1	155630636	155630636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	67	99	1	ENST00000295566.4:c.1203G>T	p.Met401Ile	p.M401I	ENST00000295566	NM_139118.2	401	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS55645.1	1479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCATATT	NONE	.	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9	.	.	ENSP00000357323	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000368339	Transcript	.	.	ENSG00000163374	30935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.1)	.	YYAP1_HUMAN	YY1AP1	HGNC	A3KFK2_HUMAN,A3KFK1_HUMAN	.	UPI0001AE792F	SNV	YY1AP1,missense_variant,p.Met355Ile,ENST00000355499,;YY1AP1,missense_variant,p.Met324Ile,ENST00000311573,;YY1AP1,missense_variant,p.Met201Ile,ENST00000535662,;YY1AP1,missense_variant,p.Met493Ile,ENST00000368339,;YY1AP1,missense_variant,p.Met401Ile,ENST00000295566,;YY1AP1,missense_variant,p.Met355Ile,ENST00000347088,;YY1AP1,missense_variant,p.Met344Ile,ENST00000361831,;YY1AP1,missense_variant,p.Met473Ile,ENST00000368340,;YY1AP1,missense_variant,p.Met324Ile,ENST00000407221,;YY1AP1,missense_variant,p.Met335Ile,ENST00000404643,;YY1AP1,missense_variant,p.Met344Ile,ENST00000359205,;YY1AP1,missense_variant,p.Met355Ile,ENST00000368330,;YY1AP1,3_prime_UTR_variant,,ENST00000405763,;MSTO1,intron_variant,,ENST00000538143,;MSTO1,intron_variant,,ENST00000452804,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000488784,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000493625,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000477470,;YY1AP1,3_prime_UTR_variant,,ENST00000361140,;YY1AP1,3_prime_UTR_variant,,ENST00000436865,;YY1AP1,3_prime_UTR_variant,,ENST00000354691,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000442834,;MSTO2P,intron_variant,,ENST00000538914,;RP11-29H23.5,upstream_gene_variant,,ENST00000500626,;	1484	101	89	SUCCESS
DCAF6	55827	.	GRCh37	1	167971753	167971753	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	89	122	0	ENST00000312263.6:c.937C>T	p.Arg313Cys	p.R313C	ENST00000312263	NM_001017977.2	313	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS55657.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCGTGGT	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11	.	.	ENSP00000356814	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,missense_variant,p.Arg282Cys,ENST00000432587,;DCAF6,missense_variant,p.Arg313Cys,ENST00000367840,;DCAF6,missense_variant,p.Arg313Cys,ENST00000312263,;DCAF6,missense_variant,p.Arg313Cys,ENST00000367843,;MIR1255B2,downstream_gene_variant,,ENST00000408618,;DCAF6,missense_variant,p.Arg313Cys,ENST00000470721,;	1031	122	135	SUCCESS
KIAA1614	57710	.	GRCh37	1	180885825	180885825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	95	0	ENST00000367588.4:c.586G>T	p.Asp196Tyr	p.D196Y	ENST00000367588	NM_020950.1	196	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS41442.1	586	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGACCAT	NONE	.	.	hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7	.	.	ENSP00000356560	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000367588	Transcript	.	.	ENSG00000135835	29327	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	K1614_HUMAN	KIAA1614	HGNC	.	.	UPI00001C1D75	SNV	KIAA1614,missense_variant,p.Asp196Tyr,ENST00000367588,;KIAA1614,downstream_gene_variant,,ENST00000496210,;	641	95	98	SUCCESS
CACNA1S	779	.	GRCh37	1	201012432	201012432	+	synonymous_variant	Silent	SNP	A	A	G	rs751492580	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	58	107	0	ENST00000362061.3:c.5025T>C	p.His1675=	p.H1675=	ENST00000362061	NM_000069.2	1675	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS1407.1	5025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTATGGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190	.	.	ENSP00000355192	.	40/44	.	.	.	.	.	.	.	.	rs751492580	40/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,synonymous_variant,p.%3D,ENST00000367338,;CACNA1S,synonymous_variant,p.%3D,ENST00000362061,;RP11-168O16.2,downstream_gene_variant,,ENST00000415359,;	5252	107	81	SUCCESS
CR1	1378	.	GRCh37	1	207697037	207697037	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	346	37	416	0	ENST00000367051.1:c.487+12038T>G		p.*163*	ENST00000367051		190		0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS44308.1	569	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTGGTGA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	5/47	.	.	.	.	.	.	.	.	.	5/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.07)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Val190Gly,ENST00000400960,;CR1,missense_variant,p.Val190Gly,ENST00000367052,;CR1,missense_variant,p.Val190Gly,ENST00000367049,;CR1,missense_variant,p.Val190Gly,ENST00000534202,;CR1,missense_variant,p.Val166Gly,ENST00000529814,;CR1,missense_variant,p.Val190Gly,ENST00000367053,;CR1,intron_variant,,ENST00000367051,;CR1,non_coding_transcript_exon_variant,,ENST00000367050,;CR1,non_coding_transcript_exon_variant,,ENST00000434033,;CR1,intron_variant,,ENST00000436595,;CR1,intron_variant,,ENST00000450439,;	569	417	383	SUCCESS
DISC1	27185	.	GRCh37	1	231906730	231906730	+	synonymous_variant	Silent	SNP	G	G	A	rs769340270	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	17	237	0	ENST00000439617.2:c.1548G>A	p.Leu516=	p.L516=	ENST00000439617	NM_001164540.1	516	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS53482.1	1548	MUTECT|MUSE	.	CAGCTGCAGGA	NONE	.	.	Superfamily_domains:SSF46579,hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332	.	.	ENSP00000355593	.	6/10	.	.	.	.	.	.	.	.	rs769340270	6/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,synonymous_variant,p.%3D,ENST00000539444,;DISC1,synonymous_variant,p.%3D,ENST00000439617,;DISC1,synonymous_variant,p.%3D,ENST00000602873,;DISC1,synonymous_variant,p.%3D,ENST00000535983,;DISC1,synonymous_variant,p.%3D,ENST00000602281,;DISC1,synonymous_variant,p.%3D,ENST00000366633,;DISC1,synonymous_variant,p.%3D,ENST00000366636,;DISC1,synonymous_variant,p.%3D,ENST00000537876,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,synonymous_variant,p.%3D,ENST00000295051,;DISC1,synonymous_variant,p.%3D,ENST00000535944,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000602822,;DISC1,3_prime_UTR_variant,,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,3_prime_UTR_variant,,ENST00000602713,;DISC1,3_prime_UTR_variant,,ENST00000602700,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;	1601	237	249	SUCCESS
ARID1A	8289	.	GRCh37	1	27097796	27097796	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	114	0	ENST00000324856.7:c.3385A>T	p.Lys1129Ter	p.K1129*	ENST00000324856	NM_006015.4	1129	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS285.1	3385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCAAGATC	BUFFER|p.Q1131*|c.3391C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,stop_gained,p.Lys1129Ter,ENST00000457599,;ARID1A,stop_gained,p.Lys1129Ter,ENST00000324856,;ARID1A,stop_gained,p.Lys746Ter,ENST00000374152,;ARID1A,stop_gained,p.Lys27Ter,ENST00000430799,;ARID1A,upstream_gene_variant,,ENST00000540690,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,downstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000532781,;	3756	114	73	SUCCESS
C1orf177	0	.	GRCh37	1	55279596	55279596	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	73	205	0	ENST00000371273.3:c.872C>T	p.Thr291Ile	p.T291I	ENST00000371273	NM_001110533.1	291	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS44153.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACCCCTA	NONE	.	.	.	.	.	ENSP00000360320	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000371273	Transcript	.	.	ENSG00000162398	26854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.4)	.	CA177_HUMAN	C1orf177	HGNC	.	.	UPI0000204405	SNV	C1orf177,missense_variant,p.Thr291Ile,ENST00000358193,;C1orf177,missense_variant,p.Thr291Ile,ENST00000371273,;	887	205	174	SUCCESS
CLCA4	22802	.	GRCh37	1	87045742	87045742	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	61	196	0	ENST00000370563.3:c.2474G>A	p.Ser825Asn	p.S825N	ENST00000370563	NM_012128.3	825	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS41355.1	2474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGCTTTG	NONE	.	.	hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359594	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000370563	Transcript	.	.	ENSG00000016602	2018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.55)	.	CLCA4_HUMAN	CLCA4	HGNC	Q9NXP1_HUMAN	.	UPI00000389E8	SNV	CLCA4,missense_variant,p.Ser825Asn,ENST00000370563,;RP4-651E10.4,intron_variant,,ENST00000456587,;	2516	196	160	SUCCESS
XRN2	22803	.	GRCh37	20	21312420	21312420	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	44	159	0	ENST00000377191.3:c.664G>T	p.Asp222Tyr	p.D222Y	ENST00000377191	NM_012255.3	222	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS13144.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGACCCA	NONE	.	.	hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF037239	.	.	ENSP00000366396	.	8/30	.	.	.	.	.	.	.	.	COSM182987	8/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,missense_variant,p.Asp168Tyr,ENST00000539513,;XRN2,missense_variant,p.Asp146Tyr,ENST00000430571,;XRN2,missense_variant,p.Asp222Tyr,ENST00000377191,;	759	159	101	SUCCESS
THBD	7056	.	GRCh37	20	23029597	23029597	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746442061	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	280	1004	2	ENST00000377103.2:c.545C>G	p.Pro182Arg	p.P182R	ENST00000377103	NM_000361.2	182	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS13148.1	545	RADIA|SOMATICSNIPER|VARSCANS	.	CGCCGGGCTCC	NONE	byFrequency	.	hmmpanther:PTHR24036,hmmpanther:PTHR24036:SF5,PIRSF_domain:PIRSF001775	.	.	ENSP00000366307	.	1/1	.	.	.	.	.	.	.	.	rs746442061	1/1	PASS	ENST00000377103	Transcript	1	.	ENSG00000178726	11784	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.391)	.	tolerated(0.18)	.	TRBM_HUMAN	THBD	HGNC	.	.	UPI00000002BD	SNV	THBD,missense_variant,p.Pro182Arg,ENST00000377103,;	782	1006	473	SUCCESS
FRG1B	0	.	GRCh37	20	29632712	29632712	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	687	30	851	0	ENST00000278882.3:c.527T>C	p.Leu176Pro	p.L176P	ENST00000278882		176	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	527	MUTECT|MUSE	.	GACGCTTCTGG	BUFFER|p.E174E|c.522G>A|3,BUFFER|p.E174E|c.522G>A|3	.	.	Pfam_domain:PF06229,hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF1	.	.	ENSP00000278882	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000278882	Transcript	.	.	ENSG00000149531	15792	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FRG1B_HUMAN	FRG1B	HGNC	.	.	UPI000012AC05	SNV	FRG1B,missense_variant,p.Leu176Pro,ENST00000278882,;FRG1B,missense_variant,p.Leu176Pro,ENST00000358464,;FRG1B,downstream_gene_variant,,ENST00000439954,;AL441988.1,upstream_gene_variant,,ENST00000408392,;FRG1B,downstream_gene_variant,,ENST00000479318,;	907	851	718	SUCCESS
ACTL10	170487	.	GRCh37	20	32256018	32256018	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777592799	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	88	0	ENST00000330271.4:c.715C>A	p.Leu239Met	p.L239M	ENST00000330271	NM_001024675.1	239	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS33463.1	715	MUTECT|MUSE	.	CCAGGCTGCTG	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF183,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000329647	.	1/1	.	.	.	.	.	.	.	.	rs777592799	1/1	PASS	ENST00000330271	Transcript	.	.	ENSG00000182584	16127	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.715)	.	deleterious(0.02)	.	ACL10_HUMAN	ACTL10	HGNC	.	.	UPI0000470AC1	SNV	ACTL10,missense_variant,p.Leu239Met,ENST00000330271,;NECAB3,intron_variant,,ENST00000375238,;NECAB3,intron_variant,,ENST00000439478,;NECAB3,intron_variant,,ENST00000606690,;NECAB3,intron_variant,,ENST00000246190,;NECAB3,upstream_gene_variant,,ENST00000480994,;NECAB3,downstream_gene_variant,,ENST00000473892,;C20orf144,downstream_gene_variant,,ENST00000375222,;NECAB3,intron_variant,,ENST00000494174,;NECAB3,upstream_gene_variant,,ENST00000606106,;NECAB3,upstream_gene_variant,,ENST00000485976,;NECAB3,intron_variant,,ENST00000606699,;NECAB3,intron_variant,,ENST00000485399,;NECAB3,intron_variant,,ENST00000607805,;NECAB3,intron_variant,,ENST00000493590,;NECAB3,intron_variant,,ENST00000488489,;NECAB3,downstream_gene_variant,,ENST00000484824,;C20orf144,downstream_gene_variant,,ENST00000607738,;NECAB3,downstream_gene_variant,,ENST00000607055,;	1715	88	80	SUCCESS
PLCG1	5335	.	GRCh37	20	39791106	39791106	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	96	0	ENST00000373271.1:c.527A>T	p.Asp176Val	p.D176V	ENST00000373271	NM_182811.1	176	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS13313.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGACCTGA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,PIRSF_domain:PIRSF000952,Superfamily_domains:SSF47473	.	.	ENSP00000362369	.	5/32	.	.	.	.	.	.	.	.	.	5/32	PASS	ENST00000373272	Transcript	.	.	ENSG00000124181	9065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	PLCG1_HUMAN	PLCG1	HGNC	.	.	UPI00001B94DD	SNV	PLCG1,missense_variant,p.Asp176Val,ENST00000373272,;PLCG1,missense_variant,p.Asp176Val,ENST00000244007,;PLCG1,missense_variant,p.Asp176Val,ENST00000373271,;PLCG1,non_coding_transcript_exon_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000473632,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,downstream_gene_variant,,ENST00000490253,;PLCG1,upstream_gene_variant,,ENST00000470528,;PLCG1,upstream_gene_variant,,ENST00000492148,;	932	96	95	SUCCESS
CLIC6	54102	.	GRCh37	21	36042758	36042758	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	11	153	0	ENST00000360731.3:c.1071C>T	p.Asp357=	p.D357=	ENST00000360731		357	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS13638.1	1071	MUTECT|MUSE	.	GAGGACAGGGT	NONE	.	.	.	.	.	ENSP00000290332	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000349499	Transcript	.	.	ENSG00000159212	2065	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLIC6_HUMAN	CLIC6	HGNC	.	.	UPI000000D7AC	SNV	CLIC6,synonymous_variant,p.%3D,ENST00000360731,;CLIC6,synonymous_variant,p.%3D,ENST00000349499,;	1071	153	148	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	31	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	31	38	SUCCESS
MMP11	4320	.	GRCh37	22	24123543	24123543	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	52	0	ENST00000215743.3:c.1022G>A	p.Ser341Asn	p.S341N	ENST00000215743	NM_005940.3	341	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS13816.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCCCTG	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF20,PROSITE_patterns:PS00024,Pfam_domain:PF00045,Gene3D:2.110.10.10,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000215743	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000215743	Transcript	.	.	ENSG00000099953	7157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.27)	.	MMP11_HUMAN	MMP11	HGNC	F8WDI7_HUMAN	.	UPI00001AE5D9	SNV	MMP11,missense_variant,p.Ser341Asn,ENST00000215743,;AP000349.1,downstream_gene_variant,,ENST00000598975,;MMP11,non_coding_transcript_exon_variant,,ENST00000488363,;MMP11,downstream_gene_variant,,ENST00000489582,;MMP11,downstream_gene_variant,,ENST00000477567,;MMP11,upstream_gene_variant,,ENST00000480185,;MMP11,downstream_gene_variant,,ENST00000460352,;MMP11,missense_variant,p.Ser325Asn,ENST00000437086,;MMP11,missense_variant,p.Ser129Asn,ENST00000434318,;MMP11,non_coding_transcript_exon_variant,,ENST00000493132,;MMP11,non_coding_transcript_exon_variant,,ENST00000465385,;MMP11,non_coding_transcript_exon_variant,,ENST00000492464,;MMP11,downstream_gene_variant,,ENST00000428253,;MMP11,downstream_gene_variant,,ENST00000465730,;	1074	52	36	SUCCESS
THOC5	8563	.	GRCh37	22	29913067	29913067	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	138	0	ENST00000397871.1:c.1632G>C	p.Leu544=	p.L544=	ENST00000397871	NM_001002879.1	544	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS13859.1	1632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCAGTCC	NONE	.	.	hmmpanther:PTHR13375,hmmpanther:PTHR13375:SF3	.	.	ENSP00000420306	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000490103	Transcript	.	.	ENSG00000100296	19074	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THOC5_HUMAN	THOC5	HGNC	C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN	.	UPI000013FD77	SNV	THOC5,synonymous_variant,p.%3D,ENST00000490103,;THOC5,synonymous_variant,p.%3D,ENST00000397871,;THOC5,synonymous_variant,p.%3D,ENST00000397873,;THOC5,synonymous_variant,p.%3D,ENST00000397872,;CTA-256D12.11,intron_variant,,ENST00000411969,;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,downstream_gene_variant,,ENST00000484924,;	1755	138	92	SUCCESS
ASCC2	84164	.	GRCh37	22	30202839	30202839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	89	0	ENST00000307790.3:c.963G>T	p.Glu321Asp	p.E321D	ENST00000307790	NM_032204.4	321	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS13869.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCTCCAT	NONE	.	.	hmmpanther:PTHR21494,hmmpanther:PTHR21494:SF0	.	.	ENSP00000380877	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000397771	Transcript	.	.	ENSG00000100325	24103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious(0.04)	.	ASCC2_HUMAN	ASCC2	HGNC	B1AH59_HUMAN	.	UPI000006E83B	SNV	ASCC2,missense_variant,p.Glu321Asp,ENST00000307790,;ASCC2,missense_variant,p.Glu245Asp,ENST00000542393,;ASCC2,missense_variant,p.Glu321Asp,ENST00000397771,;ASCC2,upstream_gene_variant,,ENST00000411532,;ASCC2,non_coding_transcript_exon_variant,,ENST00000464287,;ASCC2,non_coding_transcript_exon_variant,,ENST00000478812,;ASCC2,non_coding_transcript_exon_variant,,ENST00000472433,;ASCC2,3_prime_UTR_variant,,ENST00000458594,;ASCC2,upstream_gene_variant,,ENST00000487486,;	1141	89	67	SUCCESS
DDX17	10521	.	GRCh37	22	38890032	38890032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	33	98	0	ENST00000403230.1:c.1319G>T	p.Arg440Ile	p.R440I	ENST00000403230		440	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS46706.1	1319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTCTGCGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF219,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000380033	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000396821	Transcript	.	.	ENSG00000100201	2740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	.	DDX17	HGNC	Q9UQL5_HUMAN,H3BLZ8_HUMAN	.	UPI0001AE634C	SNV	DDX17,missense_variant,p.Arg440Ile,ENST00000403230,;DDX17,missense_variant,p.Arg440Ile,ENST00000396821,;DDX17,missense_variant,p.Arg361Ile,ENST00000381633,;DDX17,non_coding_transcript_exon_variant,,ENST00000432525,;DDX17,downstream_gene_variant,,ENST00000467279,;DDX17,upstream_gene_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000497196,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;DDX17,downstream_gene_variant,,ENST00000477112,;	1419	98	101	SUCCESS
ARSA	410	.	GRCh37	22	51066154	51066154	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	295	191	531	0	ENST00000216124.5:c.54C>T	p.Ala18=	p.A18=	ENST00000216124	NM_000487.5	18	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14100.2	54	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGGCCAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10342:SF22,hmmpanther:PTHR10342	.	.	ENSP00000216124	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000216124	Transcript	.	.	ENSG00000100299	713	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARSA_HUMAN	ARSA	HGNC	.	.	UPI000013C6C4	SNV	ARSA,synonymous_variant,p.%3D,ENST00000547805,;ARSA,synonymous_variant,p.%3D,ENST00000395619,;ARSA,synonymous_variant,p.%3D,ENST00000395621,;ARSA,synonymous_variant,p.%3D,ENST00000216124,;ARSA,synonymous_variant,p.%3D,ENST00000547307,;ARSA,synonymous_variant,p.%3D,ENST00000356098,;ARSA,intron_variant,,ENST00000453344,;ARSA,upstream_gene_variant,,ENST00000610191,;ARSA,non_coding_transcript_exon_variant,,ENST00000551731,;ARSA,upstream_gene_variant,,ENST00000608497,;	447	531	486	SUCCESS
NMS	129521	.	GRCh37	2	101096961	101096961	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	104	0	ENST00000376865.1:c.340T>C	p.Ser114Pro	p.S114P	ENST00000376865	NM_001011717.1	114	Tcg/Ccg	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS33259.1	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTCGGGG	NONE	.	.	hmmpanther:PTHR32414	.	.	ENSP00000366061	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000376865	Transcript	.	.	ENSG00000204640	32203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.2)	.	NMS_HUMAN	NMS	HGNC	.	.	UPI00004C7A83	SNV	NMS,missense_variant,p.Ser114Pro,ENST00000376865,;	347	104	103	SUCCESS
KLF11	8462	.	GRCh37	2	10192629	10192629	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	40	93	0	ENST00000305883.1:c.1534G>A	p.Ala512Thr	p.A512T	ENST00000305883	NM_003597.4	512	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1668.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGCCTGA	NONE	.	.	.	.	.	ENSP00000307023	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000305883	Transcript	.	.	ENSG00000172059	11811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	deleterious_low_confidence(0.01)	.	KLF11_HUMAN	KLF11	HGNC	Q53QU8_HUMAN,E7EX78_HUMAN,C9JM94_HUMAN,B5MCC4_HUMAN	.	UPI000012DEDA	SNV	KLF11,missense_variant,p.Ala495Thr,ENST00000540845,;KLF11,missense_variant,p.Ala495Thr,ENST00000535335,;KLF11,missense_variant,p.Ala512Thr,ENST00000305883,;KLF11,downstream_gene_variant,,ENST00000448523,;CYS1,downstream_gene_variant,,ENST00000381813,;KLF11,downstream_gene_variant,,ENST00000401510,;KLF11,downstream_gene_variant,,ENST00000440320,;RP11-254F7.3,downstream_gene_variant,,ENST00000607181,;	1696	93	75	SUCCESS
TPO	7173	.	GRCh37	2	1481013	1481013	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	622	365	983	0	ENST00000329066.4:c.975C>A	p.Asp325Glu	p.D325E	ENST00000329066	NM_001206744.1	325	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS1643.1	975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACGCGTC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	8/17	.	.	.	.	.	.	.	.	COSM1399812	8/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Asp325Glu,ENST00000329066,;TPO,missense_variant,p.Asp325Glu,ENST00000337415,;TPO,missense_variant,p.Asp325Glu,ENST00000382201,;TPO,missense_variant,p.Asp325Glu,ENST00000346956,;TPO,missense_variant,p.Asp254Glu,ENST00000422464,;TPO,missense_variant,p.Asp325Glu,ENST00000345913,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000497517,;	1066	983	987	SUCCESS
SCN9A	6335	.	GRCh37	2	167162425	167162425	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1166699182	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	75	226	0	ENST00000303354.6:c.476C>A	p.Thr159Asn	p.T159N	ENST00000303354		159	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS46441.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGTGTAC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,missense_variant,p.Thr159Asn,ENST00000375387,;SCN9A,missense_variant,p.Thr158Asn,ENST00000409435,;SCN9A,missense_variant,p.Thr23Asn,ENST00000452182,;SCN9A,missense_variant,p.Thr158Asn,ENST00000409672,;SCN9A,missense_variant,p.Thr23Asn,ENST00000454569,;SCN9A,missense_variant,p.Thr159Asn,ENST00000303354,;AC010127.3,downstream_gene_variant,,ENST00000447809,;SCN9A,non_coding_transcript_exon_variant,,ENST00000472119,;	820	226	254	SUCCESS
XIRP2	129446	.	GRCh37	2	167760305	167760305	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780403837	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	76	218	0	ENST00000409195.1:c.313C>A	p.Arg105Ser	p.R105S	ENST00000409195	NM_152381.5	105	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS42769.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGCGCAGG	NONE	byFrequency	.	.	.	.	ENSP00000386840	.	2/11	.	.	.	.	.	.	.	.	rs780403837,COSM268102,COSM268103	2/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.88)	.	.	0,1,1	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Arg105Ser,ENST00000409195,;XIRP2,missense_variant,p.Arg105Ser,ENST00000420519,;XIRP2,missense_variant,p.Arg105Ser,ENST00000409756,;XIRP2,missense_variant,p.Arg105Ser,ENST00000409043,;XIRP2,missense_variant,p.Arg105Ser,ENST00000409728,;XIRP2,missense_variant,p.Arg105Ser,ENST00000295237,;	402	218	193	SUCCESS
UBR3	130507	.	GRCh37	2	170929938	170929940	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	GAA	GAA	-	rs756945286	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	GAA	GAA	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	102	0	ENST00000272793.5:c.5029_5031del	p.Glu1677del	p.E1677del	ENST00000272793		1674	GAA/-	0	.	.	.	.	.	-	E/-	protein_coding	YES	CCDS2238.2	5020-5022	INDELOCATOR|VARSCANI	.	TAAAAGGAAGAAGA	NONE	byFrequency	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	.	.	ENSP00000396068	.	36/39	.	.	.	.	.	.	.	.	rs756945286,COSM2152685,COSM2152686	36/39	PASS	ENST00000418381	Transcript	.	.	ENSG00000144357	30467	9	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	deletion	UBR3,inframe_deletion,p.Glu498del,ENST00000392631,;UBR3,inframe_deletion,p.Glu739del,ENST00000392632,;UBR3,inframe_deletion,p.Glu1677del,ENST00000418381,;UBR3,inframe_deletion,p.Glu1677del,ENST00000272793,;UBR3,inframe_deletion,p.Glu377del,ENST00000439681,;UBR3,splice_region_variant,,ENST00000444475,;UBR3,splice_region_variant,,ENST00000474426,;UBR3,3_prime_UTR_variant,,ENST00000430321,;AC092641.2,downstream_gene_variant,,ENST00000440229,;	5020-5022	102	100	SUCCESS
TTN	7273	.	GRCh37	2	179600418	179600418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	95	0	ENST00000591111.1:c.13804G>A	p.Val4602Ile	p.V4602I	ENST00000591111		4602	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS59435.1	14755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAACTGTGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	50/363	.	.	.	.	.	.	.	.	.	50/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val3675Ile,ENST00000342992,;TTN,missense_variant,p.Val4919Ile,ENST00000589042,;TTN,missense_variant,p.Val4602Ile,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;	14980	95	82	SUCCESS
GPR1	2825	.	GRCh37	2	207041060	207041060	+	synonymous_variant	Silent	SNP	A	A	G	rs761263716	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	126	0	ENST00000407325.2:c.912T>C	p.Tyr304=	p.Y304=	ENST00000407325	NM_001098199.1	304	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS2368.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACATAAAG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24229:SF4,hmmpanther:PTHR24229,PROSITE_profiles:PS50262	.	.	ENSP00000384345	.	3/3	.	.	.	.	.	.	.	.	rs761263716	3/3	PASS	ENST00000407325	Transcript	.	.	ENSG00000183671	4463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR1_HUMAN	GPR1	HGNC	C9JSU0_HUMAN,C9JQB7_HUMAN,C9JKF3_HUMAN,C9JFR8_HUMAN,C9JCK1_HUMAN,C9J456_HUMAN	.	UPI000013C9FB	SNV	GPR1,synonymous_variant,p.%3D,ENST00000407325,;GPR1,synonymous_variant,p.%3D,ENST00000437420,;GPR1,downstream_gene_variant,,ENST00000442134,;GPR1,downstream_gene_variant,,ENST00000439932,;GPR1,downstream_gene_variant,,ENST00000458440,;GPR1,downstream_gene_variant,,ENST00000447845,;GPR1,downstream_gene_variant,,ENST00000451790,;GPR1,downstream_gene_variant,,ENST00000411719,;	1275	126	123	SUCCESS
FN1	2335	.	GRCh37	2	216248812	216248813	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	113	32	106	0	ENST00000359671.1:c.4551dup	p.Val1518CysfsTer20	p.V1518Cfs*20	ENST00000359671		1517	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS42814.1	4824-4825	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACACAGTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	30/46	.	.	.	.	.	.	.	.	.	30/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	insertion	FN1,frameshift_variant,p.Val1609CysfsTer20,ENST00000432072,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000443816,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000345488,;FN1,frameshift_variant,p.Val1609CysfsTer20,ENST00000354785,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000359671,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000357009,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000446046,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000357867,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000421182,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000346544,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000336916,;FN1,frameshift_variant,p.Val325CysfsTer20,ENST00000456923,;FN1,frameshift_variant,p.Val1609CysfsTer20,ENST00000323926,;FN1,frameshift_variant,p.Val1518CysfsTer20,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000474036,;FN1,upstream_gene_variant,,ENST00000480737,;	5194-5195	106	145	SUCCESS
SPR	6697	.	GRCh37	2	73114643	73114643	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	388	17	326	0	ENST00000234454.5:c.82G>A	p.Ala28Thr	p.A28T	ENST00000234454	NM_003124.4	28	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1920.1	82	MUTECT|MUSE	.	TCCTGGCCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24318,hmmpanther:PTHR24318:SF1,TIGRFAM_domain:TIGR01500,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000234454	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000234454	Transcript	.	.	ENSG00000116096	11257	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.906)	.	deleterious(0.01)	.	SPRE_HUMAN	SPR	HGNC	Q9UEC5_HUMAN,Q93041_HUMAN	.	UPI000004C79D	SNV	SPR,missense_variant,p.Ala28Thr,ENST00000234454,;SPR,non_coding_transcript_exon_variant,,ENST00000498749,;	155	326	405	SUCCESS
LOXL3	84695	.	GRCh37	2	74763931	74763931	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1192497341	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	45	108	0	ENST00000264094.3:c.817G>T	p.Gly273Trp	p.G273W	ENST00000264094	NM_032603.2	273	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS1953.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCCAGGGC	BUFFER|p.A277fs*57|c.824_825insG|3,BUFFER|p.G275fs*5|c.824delG|3	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF11,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000264094	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000264094	Transcript	.	.	ENSG00000115318	13869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	LOXL3_HUMAN	LOXL3	HGNC	Q8N505_HUMAN,Q53TY1_HUMAN,Q2EHP2_HUMAN,C9J5M1_HUMAN	.	UPI0000044959	SNV	LOXL3,missense_variant,p.Gly273Trp,ENST00000413469,;LOXL3,missense_variant,p.Gly273Trp,ENST00000264094,;LOXL3,missense_variant,p.Gly273Trp,ENST00000409249,;LOXL3,missense_variant,p.Gly273Trp,ENST00000409549,;LOXL3,intron_variant,,ENST00000420535,;LOXL3,intron_variant,,ENST00000409986,;LOXL3,intron_variant,,ENST00000393937,;HTRA2,downstream_gene_variant,,ENST00000258080,;HTRA2,downstream_gene_variant,,ENST00000352222,;HTRA2,downstream_gene_variant,,ENST00000437202,;LOXL3,intron_variant,,ENST00000481835,;HTRA2,downstream_gene_variant,,ENST00000462909,;HTRA2,downstream_gene_variant,,ENST00000484881,;LOXL3,downstream_gene_variant,,ENST00000484369,;HTRA2,downstream_gene_variant,,ENST00000467961,;LOXL3,intron_variant,,ENST00000470907,;HTRA2,downstream_gene_variant,,ENST00000484352,;HTRA2,downstream_gene_variant,,ENST00000482331,;	889	108	113	SUCCESS
TATDN2	9797	.	GRCh37	3	10291105	10291105	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	82	207	0	ENST00000287652.4:c.221C>T	p.Ser74Phe	p.S74F	ENST00000287652	NM_014760.3	74	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS33698.1	221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19	.	.	ENSP00000287652	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000287652	Transcript	.	.	ENSG00000157014	28988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.577)	.	deleterious_low_confidence(0.01)	.	TATD2_HUMAN	TATDN2	HGNC	H7BZJ2_HUMAN	.	UPI000013DEC1	SNV	TATDN2,missense_variant,p.Ser74Phe,ENST00000448281,;TATDN2,missense_variant,p.Ser74Phe,ENST00000287652,;RP11-438J1.1,missense_variant,p.Ser17Phe,ENST00000450534,;RP11-438J1.1,missense_variant,p.Ser17Phe,ENST00000437082,;	1272	207	201	SUCCESS
ILDR1	286676	.	GRCh37	3	121724154	121724154	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200029008	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	105	0	ENST00000344209.5:c.316C>T	p.Arg106Trp	p.R106W	ENST00000344209	NM_001199799.1	106	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS56271.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCCGCT	NONE	.	.	SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3	.	.	ENSP00000345667	.	3/8	.	.	.	.	.	.	.	.	rs200029008	3/8	PASS	ENST00000344209	Transcript	.	.	ENSG00000145103	28741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ILDR1_HUMAN	ILDR1	HGNC	.	.	UPI00003FF1E2	SNV	ILDR1,missense_variant,p.Arg106Trp,ENST00000393631,;ILDR1,missense_variant,p.Arg106Trp,ENST00000273691,;ILDR1,missense_variant,p.Arg106Trp,ENST00000344209,;ILDR1,missense_variant,p.Arg118Trp,ENST00000462014,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;	443	105	97	SUCCESS
RYK	6259	.	GRCh37	3	133894813	133894813	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	32	143	0	ENST00000296084.4:c.1379G>T	p.Arg460Met	p.R460M	ENST00000296084	NM_001005861.2	460	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	.	1379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCTTCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF256,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000296084	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000296084	Transcript	.	.	ENSG00000163785	10481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	RYK_HUMAN	RYK	HGNC	Q8WTZ8_HUMAN,F5H8L5_HUMAN	.	UPI00015E08D8	SNV	RYK,missense_variant,p.Arg270Met,ENST00000427044,;RYK,missense_variant,p.Arg79Met,ENST00000472234,;RYK,missense_variant,p.Arg460Met,ENST00000296084,;RYK,missense_variant,p.Arg439Met,ENST00000460933,;RYK,3_prime_UTR_variant,,ENST00000486725,;RYK,non_coding_transcript_exon_variant,,ENST00000481382,;RYK,non_coding_transcript_exon_variant,,ENST00000473208,;HMGB3P14,downstream_gene_variant,,ENST00000494195,;	1379	143	125	SUCCESS
ATR	545	.	GRCh37	3	142279231	142279231	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752635785	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	50	195	0	ENST00000350721.4:c.1415C>G	p.Ser472Cys	p.S472C	ENST00000350721	NM_001184.3	472	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS3124.1	1415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGATTCA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64	.	.	ENSP00000343741	.	6/47	.	.	.	.	.	.	.	.	.	6/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.471)	.	deleterious_low_confidence(0.02)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Ser472Cys,ENST00000350721,;ATR,intron_variant,,ENST00000515149,;ATR,intron_variant,,ENST00000383101,;ATR,3_prime_UTR_variant,,ENST00000507148,;ATR,upstream_gene_variant,,ENST00000515863,;	1537	195	126	SUCCESS
ARHGEF26	26084	.	GRCh37	3	153943788	153943788	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	122	0	ENST00000356448.4:c.2079C>T	p.Thr693=	p.T693=	ENST00000356448	NM_001251962.1	693	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46938.1	2079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACCAAGAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000348828	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000356448	Transcript	.	.	ENSG00000114790	24490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGQ_HUMAN	ARHGEF26	HGNC	.	.	UPI00001410D0	SNV	ARHGEF26,synonymous_variant,p.%3D,ENST00000465093,;ARHGEF26,synonymous_variant,p.%3D,ENST00000356448,;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,non_coding_transcript_exon_variant,,ENST00000483068,;ARHGEF26,synonymous_variant,p.%3D,ENST00000496710,;	2363	122	95	SUCCESS
OPA1	4976	.	GRCh37	3	193384162	193384162	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	132	0	ENST00000392438.3:c.2691A>G	p.Gln897=	p.Q897=	ENST00000392438	NM_015560.2	897	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS33917.1	2802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAACTTAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF12	.	.	ENSP00000354681	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,synonymous_variant,p.%3D,ENST00000445863,;OPA1,synonymous_variant,p.%3D,ENST00000361715,;OPA1,synonymous_variant,p.%3D,ENST00000361828,;OPA1,synonymous_variant,p.%3D,ENST00000392438,;OPA1,synonymous_variant,p.%3D,ENST00000361510,;OPA1,synonymous_variant,p.%3D,ENST00000361150,;OPA1,synonymous_variant,p.%3D,ENST00000361908,;OPA1,upstream_gene_variant,,ENST00000429164,;	3036	132	107	SUCCESS
CLEC3B	7123	.	GRCh37	3	45077310	45077310	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746687463	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	46	169	0	ENST00000296130.4:c.503G>T	p.Gly168Val	p.G168V	ENST00000296130	NM_003278.2	168	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2726.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGCAAGA	NONE	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF3,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000296130	.	3/3	.	.	.	.	.	.	.	.	rs746687463	3/3	PASS	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,missense_variant,p.Gly168Val,ENST00000296130,;CLEC3B,missense_variant,p.Gly126Val,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	683	169	141	SUCCESS
EPHA3	2042	.	GRCh37	3	89156962	89156962	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	73	0	ENST00000336596.2:c.64C>A	p.Leu22Met	p.L22M	ENST00000336596	NM_005233.5	22	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS2922.1	64	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAACTGATT	NONE	.	.	hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000337451	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Leu22Met,ENST00000494014,;EPHA3,missense_variant,p.Leu22Met,ENST00000452448,;EPHA3,missense_variant,p.Leu22Met,ENST00000336596,;	289	73	60	SUCCESS
SYNPO2	171024	.	GRCh37	4	119952156	119952156	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	44	136	0	ENST00000429713.2:c.2226T>A	p.Ala742=	p.A742=	ENST00000429713	NM_001128933.1	742	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34054.1	2226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTTGTAA	NONE	.	.	hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,synonymous_variant,p.%3D,ENST00000434046,;SYNPO2,synonymous_variant,p.%3D,ENST00000307142,;SYNPO2,synonymous_variant,p.%3D,ENST00000429713,;SYNPO2,synonymous_variant,p.%3D,ENST00000504178,;SYNPO2,intron_variant,,ENST00000448416,;	2422	136	87	SUCCESS
BOD1L1	259282	.	GRCh37	4	13605490	13605490	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	7	88	0	ENST00000040738.5:c.3034C>T	p.Leu1012Phe	p.L1012F	ENST00000040738	NM_148894.2	1012	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3411.2	3034	MUTECT|MUSE|VARSCANS	.	CTCAAGCCTGG	NONE	.	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.945)	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,missense_variant,p.Leu1012Phe,ENST00000040738,;	3170	88	82	SUCCESS
GYPE	2996	.	GRCh37	4	144801586	144801586	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	28	459	0	ENST00000358615.4:c.114T>C	p.Ser38=	p.S38=	ENST00000358615	NM_198682.2	38	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47138.1	114	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTAACTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13813,hmmpanther:PTHR13813:SF1	.	.	ENSP00000351430	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000358615	Transcript	.	.	ENSG00000197465	4705	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLPE_HUMAN	GYPE	HGNC	Q9NRB2_HUMAN	.	UPI000012B76B	SNV	GYPE,synonymous_variant,p.%3D,ENST00000437468,;GYPE,synonymous_variant,p.%3D,ENST00000358615,;GYPE,synonymous_variant,p.%3D,ENST00000506264,;	166	459	274	SUCCESS
TRIML1	339976	.	GRCh37	4	189061099	189061099	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs138508820	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	65	186	0	ENST00000332517.3:c.387C>A	p.Ser129Arg	p.S129R	ENST00000332517	NM_178556.3	129	agC/agA	0	T:0	A:0	.	A:0	.	A	S/R	protein_coding	YES	CCDS3851.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCGAGGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291	A:0.0119	T:0.0001	ENSP00000327738	A:0	1/6	.	.	.	.	.	.	.	.	rs138508820,COSM4123974	1/6	common_in_exac	ENST00000332517	Transcript	.	A:0.0024	ENSG00000184108	26698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.63)	A:0	deleterious(0.03)	0,1	TRIML_HUMAN	TRIML1	HGNC	.	.	UPI000006FC8A	SNV	TRIML1,missense_variant,p.Ser129Arg,ENST00000332517,;RP11-366H4.3,downstream_gene_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000512233,;TRIML1,upstream_gene_variant,,ENST00000507581,;	527	186	104	SUCCESS
ZNF732	654254	.	GRCh37	4	265712	265712	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	92	0	ENST00000419098.1:c.934G>C	p.Gly312Arg	p.G312R	ENST00000419098	NM_001137608.1	312	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS46990.1	934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCACATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF81,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000415774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419098	Transcript	.	.	ENSG00000186777	37138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN732_HUMAN	ZNF732	HGNC	.	.	UPI00017A8291	SNV	ZNF732,missense_variant,p.Gly312Arg,ENST00000419098,;RP11-478C6.5,upstream_gene_variant,,ENST00000507882,;RP11-478C6.6,upstream_gene_variant,,ENST00000511111,;	945	92	69	SUCCESS
OCIAD2	132299	.	GRCh37	4	48894859	48894859	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	159	420	0	ENST00000508632.1:c.313G>A	p.Val105Ile	p.V105I	ENST00000508632	NM_001014446.1	105	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS33981.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATACTCCTA	NONE	.	.	hmmpanther:PTHR13336,hmmpanther:PTHR13336:SF2,Pfam_domain:PF07051	.	.	ENSP00000423014	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000508632	Transcript	.	.	ENSG00000145247	28685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.4)	.	OCAD2_HUMAN	OCIAD2	HGNC	J3KPI9_HUMAN	.	UPI000015C18E	SNV	OCIAD2,missense_variant,p.Val105Ile,ENST00000508632,;OCIAD2,intron_variant,,ENST00000273860,;OCIAD2,intron_variant,,ENST00000381464,;OCIAD2,non_coding_transcript_exon_variant,,ENST00000512087,;OCIAD2,non_coding_transcript_exon_variant,,ENST00000508069,;OCIAD2,intron_variant,,ENST00000506226,;OCIAD2,downstream_gene_variant,,ENST00000514155,;OCIAD2,3_prime_UTR_variant,,ENST00000510159,;OCIAD2,non_coding_transcript_exon_variant,,ENST00000514576,;	546	420	387	SUCCESS
PCDHGA2	56113	.	GRCh37	5	140720901	140720901	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1336534139	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	229	22	299	0	ENST00000394576.2:c.2363A>G	p.Lys788Arg	p.K788R	ENST00000394576	NM_018915.2	788	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS47289.1	2363	MUTECT|MUSE|VARSCANS	.	GAAAAAGGATT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109	.	.	ENSP00000378077	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000394576	Transcript	.	.	ENSG00000081853	8700	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.06)	.	PCDG2_HUMAN	PCDHGA2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000072E67	SNV	PCDHGA2,missense_variant,p.Lys788Arg,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA3,upstream_gene_variant,,ENST00000253812,;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	2363	299	251	SUCCESS
FAT2	2196	.	GRCh37	5	150886785	150886785	+	synonymous_variant	Silent	SNP	C	C	T	rs758682292	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	85	0	ENST00000261800.5:c.12447G>A	p.Pro4149=	p.P4149=	ENST00000261800	NM_001447.2	4149	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4317.1	12447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGGGAG	NONE	byFrequency	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37	.	.	ENSP00000261800	.	22/23	.	.	.	.	.	.	.	.	rs758682292	22/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;FAT2,synonymous_variant,p.%3D,ENST00000520200,;CTC-251D13.1,upstream_gene_variant,,ENST00000606930,;	12460	85	67	SUCCESS
RASA1	5921	.	GRCh37	5	86564557	86564577	+	inframe_deletion	In_Frame_Del	DEL	GGTGCTGCTGCTGGCGTGGCC	GGTGCTGCTGCTGGCGTGGCC	-	rs771844907	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	GGTGCTGCTGCTGGCGTGGCC	GGTGCTGCTGCTGGCGTGGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	87	0	ENST00000274376.6:c.299_319del	p.Ala100_Ala106del	p.A100_A106del	ENST00000274376	NM_002890.2	97	GGTGCTGCTGCTGGCGTGGCC/-	0	.	.	.	.	.	-	GAAAGVA/-	protein_coding	YES	CCDS34200.1	289-309	INDELOCATOR|VARSCANI	.	GTAGCTGGTGCTGCTGCTGGCGTGGCCGGTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10194	.	.	ENSP00000274376	.	1/25	.	.	.	.	.	.	.	.	rs775227380	1/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	10	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	deletion	RASA1,inframe_deletion,p.Ala100_Ala106del,ENST00000274376,;RASA1,upstream_gene_variant,,ENST00000512763,;RASA1,upstream_gene_variant,,ENST00000456692,;RASA1,upstream_gene_variant,,ENST00000506290,;RASA1,inframe_deletion,p.Ala100_Ala106del,ENST00000515800,;	853-873	87	85	SUCCESS
FAM50B	26240	.	GRCh37	6	3850894	3850894	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	18	122	0	ENST00000380272.3:c.849G>A	p.Glu283=	p.E283=	ENST00000380272	NM_012135.1	283	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS4487.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGAAGGA	NONE	.	.	Pfam_domain:PF04921,hmmpanther:PTHR12722:SF1,hmmpanther:PTHR12722	.	.	ENSP00000369627	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380274	Transcript	.	.	ENSG00000145945	18789	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA50B_HUMAN	FAM50B	HGNC	.	.	UPI000003373E	SNV	FAM50B,synonymous_variant,p.%3D,ENST00000380274,;FAM50B,synonymous_variant,p.%3D,ENST00000380272,;RP11-420L9.4,intron_variant,,ENST00000454396,;	1275	122	84	SUCCESS
KLHDC3	116138	.	GRCh37	6	42988468	42988468	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	81	0	ENST00000326974.4:c.1146G>T	p.Gly382=	p.G382=	ENST00000326974	NM_057161.3	382	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4880.1	1146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGTAGGA	NONE	.	.	.	.	.	ENSP00000313995	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000326974	Transcript	.	.	ENSG00000124702	20704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLDC3_HUMAN	KLHDC3	HGNC	.	.	UPI0000036176	SNV	KLHDC3,synonymous_variant,p.%3D,ENST00000332245,;KLHDC3,synonymous_variant,p.%3D,ENST00000326974,;KLHDC3,synonymous_variant,p.%3D,ENST00000244670,;RRP36,upstream_gene_variant,,ENST00000244496,;	1341	81	66	SUCCESS
MUC17	140453	.	GRCh37	7	100677098	100677098	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	78	0	ENST00000306151.4:c.2401C>A	p.Pro801Thr	p.P801T	ENST00000306151	NM_001040105.1	801	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34711.1	2401	MUTECT|MUSE|VARSCANS	.	CAACTCCTAGT	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Pro801Thr,ENST00000306151,;MUC17,missense_variant,p.Pro801Thr,ENST00000379439,;	2465	78	77	SUCCESS
CADPS2	93664	.	GRCh37	7	122033326	122033326	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	10	202	0	ENST00000449022.2:c.2932C>A	p.Pro978Thr	p.P978T	ENST00000449022	NM_017954.10	978	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55158.1	2932	MUTECT|MUSE	.	ACTTGGAACTT	NONE	.	.	hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3,PROSITE_profiles:PS51258	.	.	ENSP00000398481	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.24)	.	tolerated(0.07)	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,missense_variant,p.Pro978Thr,ENST00000449022,;CADPS2,missense_variant,p.Pro976Thr,ENST00000334010,;CADPS2,missense_variant,p.Pro172Thr,ENST00000462699,;CADPS2,intron_variant,,ENST00000397721,;CADPS2,intron_variant,,ENST00000412584,;CADPS2,intron_variant,,ENST00000313070,;RP5-1101C3.1,intron_variant,,ENST00000593910,;RP5-1101C3.1,intron_variant,,ENST00000591140,;	2952	202	191	SUCCESS
SLC13A4	26266	.	GRCh37	7	135376543	135376543	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	35	0	ENST00000354042.4:c.1221-150C>T		p.*407*	ENST00000354042	NM_012450.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5840.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCTATC	NONE	.	.	.	.	.	ENSP00000297282	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,intron_variant,,ENST00000354042,;C7orf73,non_coding_transcript_exon_variant,,ENST00000509448,;C7orf73,non_coding_transcript_exon_variant,,ENST00000422968,;SLC13A4,intron_variant,,ENST00000471405,;	.	35	36	SUCCESS
TAS2R38	5726	.	GRCh37	7	141673088	141673088	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	36	128	0	ENST00000547270.1:c.402C>T	p.Ser134=	p.S134=	ENST00000547270	NM_176817.4	134	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34765.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGCTTGC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF52,hmmpanther:PTHR11394	.	.	ENSP00000448219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000547270	Transcript	.	.	ENSG00000257138	9584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R38_HUMAN	TAS2R38	HGNC	Q50KM3_HUMAN,Q50KM1_HUMAN	.	UPI000000D825	SNV	TAS2R38,synonymous_variant,p.%3D,ENST00000547270,;MGAM,intron_variant,,ENST00000465654,;	486	128	115	SUCCESS
MACC1	346389	.	GRCh37	7	20198211	20198211	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	93	0	ENST00000332878.4:c.1773G>A	p.Gln591=	p.Q591=	ENST00000332878		591	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS5369.1	1773	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGACTGACC	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1,Pfam_domain:PF07653	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,synonymous_variant,p.%3D,ENST00000589011,;MACC1,synonymous_variant,p.%3D,ENST00000400331,;MACC1,synonymous_variant,p.%3D,ENST00000332878,;	2082	93	85	SUCCESS
HOXA13	3209	.	GRCh37	7	27239233	27239233	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	90	231	0	ENST00000222753.4:c.464C>G	p.Pro155Arg	p.P155R	ENST00000222753	NM_000522.4	155	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS5412.1	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGGGCTG	NONE	.	.	Pfam_domain:PF12284,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF119,Low_complexity_(Seg):seg	.	.	ENSP00000222753	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222753	Transcript	.	.	ENSG00000106031	5102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	HXA13_HUMAN	HOXA13	HGNC	.	.	UPI000013C812	SNV	HOXA13,missense_variant,p.Pro155Arg,ENST00000222753,;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000521028,;HOTTIP,upstream_gene_variant,,ENST00000605136,;HOXA13,upstream_gene_variant,,ENST00000518136,;	493	231	217	SUCCESS
ABCA13	154664	.	GRCh37	7	48313700	48313700	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	93	256	0	ENST00000435803.1:c.4437A>T	p.Glu1479Asp	p.E1479D	ENST00000435803	NM_152701.3	1479	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47584.1	4437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAAAAAGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	.	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Glu1479Asp,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	4461	256	227	SUCCESS
RNF216P1	441191	.	GRCh37	7	5036472	5036472	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	57	0	ENST00000471244.1:n.2306G>T		p.*769*	ENST00000471244				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCTCTG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000471244	Transcript	.	.	ENSG00000196204	33610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNF216P1	HGNC	.	.	.	SNV	RBAK-RBAKDN,intron_variant,,ENST00000407184,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000403969,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000471244,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000404006,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000405396,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000477090,;RNF216P1,intron_variant,,ENST00000494947,;RNF216P1,downstream_gene_variant,,ENST00000464479,;RNF216P1,downstream_gene_variant,,ENST00000406608,;RNF216P1,downstream_gene_variant,,ENST00000406089,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000360944,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000404404,;	2306	57	42	SUCCESS
SEMA3E	9723	.	GRCh37	7	83278008	83278008	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	37	1	ENST00000307792.3:c.-150C>A		p.*50*	ENST00000307792	NM_012431.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34674.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTGTCAGG	NONE	.	.	.	.	.	ENSP00000303212	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,5_prime_UTR_variant,,ENST00000307792,;SEMA3E,5_prime_UTR_variant,,ENST00000453333,;	319	38	31	SUCCESS
PRSS55	203074	.	GRCh37	8	10396245	10396245	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1394481817	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	115	0	ENST00000328655.3:c.1001G>A	p.Arg334Lys	p.R334K	ENST00000328655	NM_198464.3	334	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS5976.1	1001	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGATCCT	NONE	.	.	hmmpanther:PTHR24265:SF35,hmmpanther:PTHR24265	.	.	ENSP00000333003	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000328655	Transcript	.	.	ENSG00000184647	30824	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.19)	.	PRS55_HUMAN	PRSS55	HGNC	.	.	UPI0000160C84	SNV	PRSS55,missense_variant,p.Arg334Lys,ENST00000328655,;PRSS55,intron_variant,,ENST00000522210,;PRSS51,intron_variant,,ENST00000523024,;PRSS55,intron_variant,,ENST00000518641,;	1041	115	88	SUCCESS
COL22A1	169044	.	GRCh37	8	139606295	139606295	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs951294502	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	430	55	242	1	ENST00000303045.6:c.4580G>T	p.Gly1527Val	p.G1527V	ENST00000303045	NM_152888.1	1527	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS6376.1	4580	RADIA|MUSE|VARSCANS	.	CCAGACCCCCC	NONE	.	.	hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	63/65	.	.	.	.	.	.	.	.	.	63/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Gly1527Val,ENST00000303045,;COL22A1,missense_variant,p.Gly1507Val,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	5027	243	486	SUCCESS
BAI1	0	.	GRCh37	8	143562916	143562916	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	29	73	1	ENST00000323289.5:c.1974T>A	p.Pro658=	p.P658=	ENST00000323289	NM_001702.2	658	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS64985.1	1974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGGGGA	NONE	.	.	Pfam_domain:PF12003,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39	.	.	ENSP00000430945	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,synonymous_variant,p.%3D,ENST00000323289,;BAI1,synonymous_variant,p.%3D,ENST00000517894,;BAI1,synonymous_variant,p.%3D,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518820,;	2868	74	159	SUCCESS
BNIP3L	665	.	GRCh37	8	26240452	26240452	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	15	0	ENST00000380629.2:c.-195C>G		p.*65*	ENST00000380629	NM_004331.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6050.1	.	MUTECT|MUSE	.	GGGGCCCGCAG	NONE	.	.	.	.	.	ENSP00000370003	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000380629	Transcript	.	.	ENSG00000104765	1085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BNI3L_HUMAN	BNIP3L	HGNC	Q6IBV1_HUMAN,B4DTN1_HUMAN,B0AZS9_HUMAN	.	UPI000004CF4D	SNV	BNIP3L,5_prime_UTR_variant,,ENST00000380629,;BNIP3L,upstream_gene_variant,,ENST00000523949,;BNIP3L,upstream_gene_variant,,ENST00000520409,;BNIP3L,upstream_gene_variant,,ENST00000523515,;SDAD1P1,non_coding_transcript_exon_variant,,ENST00000519902,;BNIP3L,upstream_gene_variant,,ENST00000520077,;SDAD1P1,upstream_gene_variant,,ENST00000524156,;	39	15	9	SUCCESS
XKR4	114786	.	GRCh37	8	56436289	56436289	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	19	78	0	ENST00000327381.6:c.1456G>T	p.Ala486Ser	p.A486S	ENST00000327381	NM_052898.1	486	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS34893.1	1456	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGCATTT	NONE	.	.	Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	3/3	.	.	.	.	.	.	.	.	COSM378529	3/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	tolerated(0.67)	1	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,missense_variant,p.Ala486Ser,ENST00000327381,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	1556	78	184	SUCCESS
GSN	2934	.	GRCh37	9	124062174	124062174	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	46	0	ENST00000373818.4:c.35G>T	p.Cys12Phe	p.C12F	ENST00000373818	NM_000177.4	12	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS6828.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTGCGCGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000362924	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000373818	Transcript	.	.	ENSG00000148180	4620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.06)	.	GELS_HUMAN	GSN	HGNC	Q5T0I0_HUMAN	.	UPI000012B3B4	SNV	GSN,missense_variant,p.Cys12Phe,ENST00000373818,;GSN,intron_variant,,ENST00000373823,;GSN,intron_variant,,ENST00000341272,;GSN,intron_variant,,ENST00000449773,;GSN,intron_variant,,ENST00000449733,;GSN,intron_variant,,ENST00000545652,;GSN,intron_variant,,ENST00000394353,;GSN,intron_variant,,ENST00000436847,;GSN,intron_variant,,ENST00000412819,;GSN,intron_variant,,ENST00000373808,;GSN,intron_variant,,ENST00000432226,;GSN,intron_variant,,ENST00000477863,;GSN,intron_variant,,ENST00000475428,;GSN,intron_variant,,ENST00000483960,;GSN,intron_variant,,ENST00000477104,;	104	46	58	SUCCESS
RC3H2	54542	.	GRCh37	9	125659787	125659787	+	start_lost	Translation_Start_Site	SNP	A	A	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	75	0	ENST00000357244.2:c.2T>G	p.Met1?	p.M1?	ENST00000357244	NM_001100588.1	1	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS43874.1	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCATTGTG	NONE	.	.	hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2	.	.	ENSP00000362774	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000373670	Transcript	.	.	ENSG00000056586	21461	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.692)	.	deleterious(0)	.	RC3H2_HUMAN	RC3H2	HGNC	.	.	UPI0000048D91	SNV	RC3H2,start_lost,p.Met1?,ENST00000423239,;RC3H2,start_lost,p.Met1?,ENST00000357244,;RC3H2,start_lost,p.Met1?,ENST00000373670,;RC3H2,start_lost,p.Met1?,ENST00000471874,;RC3H2,start_lost,p.Met1?,ENST00000373665,;RC3H2,start_lost,p.Met1?,ENST00000335387,;RC3H2,intron_variant,,ENST00000478216,;RC3H2,start_lost,p.Met1?,ENST00000498479,;	603	75	76	SUCCESS
DNM1	1759	.	GRCh37	9	130996358	130996358	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773857861	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	155	0	ENST00000372923.3:c.1394G>T	p.Arg465Leu	p.R465L	ENST00000372923	NM_004408.2	465	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS6895.1	1394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCGGGAGC	NONE	.	.	hmmpanther:PTHR11566:SF32,hmmpanther:PTHR11566,Pfam_domain:PF01031	.	.	ENSP00000362014	.	11/22	.	.	.	.	.	.	.	.	rs773857861,COSM455394,COSM455393	11/22	PASS	ENST00000372923	Transcript	.	.	ENSG00000106976	2972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.981)	.	deleterious(0.01)	0,1,1	DYN1_HUMAN	DNM1	HGNC	.	.	UPI000013CA31	SNV	DNM1,missense_variant,p.Arg465Leu,ENST00000341179,;DNM1,missense_variant,p.Arg465Leu,ENST00000372923,;DNM1,missense_variant,p.Arg465Leu,ENST00000486160,;DNM1,missense_variant,p.Arg465Leu,ENST00000475805,;DNM1,missense_variant,p.Arg465Leu,ENST00000393594,;DNM1,3_prime_UTR_variant,,ENST00000482638,;DNM1,non_coding_transcript_exon_variant,,ENST00000463998,;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;	1486	155	119	SUCCESS
FUT7	2529	.	GRCh37	9	139925311	139925311	+	synonymous_variant	Silent	SNP	G	G	T	rs201121157	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	76	0	ENST00000314412.6:c.880C>A	p.Arg294=	p.R294=	ENST00000314412	NM_004479.3	294	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7022.1	880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCGGCTCT	NONE	.	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF12,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000318142	.	2/2	.	.	.	.	.	.	.	.	rs201121157	2/2	PASS	ENST00000314412	Transcript	.	.	ENSG00000180549	4018	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT7_HUMAN	FUT7	HGNC	.	.	UPI000012ADAF	SNV	FUT7,synonymous_variant,p.%3D,ENST00000314412,;C9orf139,intron_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	1899	76	76	SUCCESS
TEK	7010	.	GRCh37	9	27228299	27228299	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759970580	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	51	0	ENST00000380036.4:c.3296G>A	p.Arg1099Gln	p.R1099Q	ENST00000380036	NM_000459.3	1099	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6519.1	3296	RADIA|MUTECT|MUSE	.	GGAGCGAAAGG	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Superfamily_domains:SSF56112	.	.	ENSP00000369375	.	22/23	.	.	.	.	.	.	.	.	rs759970580	22/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Arg1056Gln,ENST00000406359,;TEK,missense_variant,p.Arg951Gln,ENST00000519097,;TEK,missense_variant,p.Arg1099Gln,ENST00000380036,;	3738	51	47	SUCCESS
FANCC	2176	.	GRCh37	9	97869519	97869519	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	69	0	ENST00000289081.3:c.1362G>A	p.Leu454=	p.L454=	ENST00000289081	NM_000136.2	454	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35071.1	1362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCAGGAG	NONE	.	.	PIRSF_domain:PIRSF018417,Pfam_domain:PF02106,hmmpanther:PTHR16798,hmmpanther:PTHR16798:SF0,Low_complexity_(Seg):seg	.	.	ENSP00000289081	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000289081	Transcript	.	.	ENSG00000158169	3584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANCC_HUMAN	FANCC	HGNC	B4E3W2_HUMAN,B1ALR7_HUMAN	.	UPI000000D910	SNV	FANCC,synonymous_variant,p.%3D,ENST00000375305,;FANCC,synonymous_variant,p.%3D,ENST00000289081,;FANCC,non_coding_transcript_exon_variant,,ENST00000464627,;FANCC,downstream_gene_variant,,ENST00000477942,;FANCC,downstream_gene_variant,,ENST00000480712,;FANCC,downstream_gene_variant,,ENST00000490972,;	1617	69	57	SUCCESS
ATP1B4	23439	.	GRCh37	X	119496020	119496020	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	6	49	0	ENST00000218008.3:c.-4A>C		p.*2*	ENST00000218008	NM_001142447.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48158.1	.	MUTECT|MUSE	.	TGAACAGCCAT	NONE	.	.	.	.	.	ENSP00000218008	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000218008	Transcript	.	.	ENSG00000101892	808	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT1B4_HUMAN	ATP1B4	HGNC	.	.	UPI00001262A4	SNV	ATP1B4,5_prime_UTR_variant,,ENST00000539306,;ATP1B4,5_prime_UTR_variant,,ENST00000218008,;ATP1B4,5_prime_UTR_variant,,ENST00000361319,;	54	49	100	SUCCESS
THOC2	57187	.	GRCh37	X	122761595	122761595	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	16	102	0	ENST00000245838.8:c.2706A>C	p.Glu902Asp	p.E902D	ENST00000245838	NM_001081550.1	902	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS43988.1	2706	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACTTCTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1,Pfam_domain:PF11262	.	.	ENSP00000245838	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000245838	Transcript	.	.	ENSG00000125676	19073	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	deleterious(0.01)	.	THOC2_HUMAN	THOC2	HGNC	.	.	UPI00001D7C42	SNV	THOC2,missense_variant,p.Glu902Asp,ENST00000245838,;THOC2,missense_variant,p.Glu787Asp,ENST00000491737,;THOC2,missense_variant,p.Glu902Asp,ENST00000355725,;THOC2,upstream_gene_variant,,ENST00000438358,;THOC2,upstream_gene_variant,,ENST00000441692,;THOC2,upstream_gene_variant,,ENST00000459945,;THOC2,upstream_gene_variant,,ENST00000464982,;THOC2,upstream_gene_variant,,ENST00000464161,;	2738	102	146	SUCCESS
ZNF157	7712	.	GRCh37	X	47272152	47272152	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	119	147	1	ENST00000377073.3:c.680T>A	p.Phe227Tyr	p.F227Y	ENST00000377073	NM_003446.3	227	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS14278.1	680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTTTGGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF34,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000366273	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377073	Transcript	.	.	ENSG00000147117	12942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.09)	.	ZN157_HUMAN	ZNF157	HGNC	.	.	UPI00001AE9ED	SNV	ZNF157,missense_variant,p.Phe227Tyr,ENST00000377073,;	766	148	153	SUCCESS
NLGN4X	57502	.	GRCh37	X	5811576	5811576	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	92	175	0	ENST00000275857.6:c.1733T>A	p.Val578Glu	p.V578E	ENST00000275857	NM_020742.2	578	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS14126.1	1733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCACTCTG	NONE	.	.	Prints_domain:PR01090,Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Val578Glu,ENST00000381092,;NLGN4X,missense_variant,p.Val578Glu,ENST00000381095,;NLGN4X,missense_variant,p.Val598Glu,ENST00000381093,;NLGN4X,missense_variant,p.Val578Glu,ENST00000538097,;NLGN4X,missense_variant,p.Val578Glu,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	2361	176	156	SUCCESS
SFXN4	119559	.	GRCh37	10	120916266	120916266	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	50	0	ENST00000355697.2:c.540A>T		p.X180_splice	ENST00000355697	NM_213649.1	180	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7610.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATTACCTA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF03820,hmmpanther:PTHR11153:SF3,hmmpanther:PTHR11153	.	.	ENSP00000347924	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000355697	Transcript	1	.	ENSG00000183605	16088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFXN4_HUMAN	SFXN4	HGNC	B1AMV8_HUMAN,B1AMV7_HUMAN	.	UPI000004D333	SNV	SFXN4,synonymous_variant,p.%3D,ENST00000355697,;SFXN4,synonymous_variant,p.%3D,ENST00000330036,;SFXN4,synonymous_variant,p.%3D,ENST00000369131,;SFXN4,downstream_gene_variant,,ENST00000419372,;SFXN4,splice_region_variant,,ENST00000461438,;SFXN4,splice_region_variant,,ENST00000466218,;SFXN4,downstream_gene_variant,,ENST00000462913,;SFXN4,upstream_gene_variant,,ENST00000484960,;SFXN4,non_coding_transcript_exon_variant,,ENST00000490417,;	560	50	56	SUCCESS
SLIT1	6585	.	GRCh37	10	98773495	98773495	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	51	78	0	ENST00000266058.4:c.3203+3G>T		p.X1068_splice	ENST00000266058	NM_003061.2	1068		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7453.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCACCTG	NONE	.	.	.	.	.	ENSP00000266058	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	LOW	30/36	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,splice_region_variant,,ENST00000371070,;SLIT1,splice_region_variant,,ENST00000266058,;ARHGAP19-SLIT1,splice_region_variant,,ENST00000453547,;	.	78	106	SUCCESS
OR4A16	81327	.	GRCh37	11	55111591	55111591	+	synonymous_variant	Silent	SNP	T	T	C	rs762129860	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	39	0	ENST00000314721.2:c.915T>C	p.Ser305=	p.S305=	ENST00000314721	NM_001005274.1	305	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31499.1	915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGTATAGT	NONE	byFrequency	.	Superfamily_domains:SSF81321	.	.	ENSP00000325128	.	1/1	.	.	.	.	.	.	.	.	rs762129860	1/1	PASS	ENST00000314721	Transcript	.	.	ENSG00000181961	15153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O4A16_HUMAN	OR4A16	HGNC	.	.	UPI0000061EB2	SNV	OR4A16,synonymous_variant,p.%3D,ENST00000314721,;	965	39	23	SUCCESS
OR10A3	26496	.	GRCh37	11	7960486	7960486	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	43	162	0	ENST00000360759.3:c.582A>T	p.Leu194Phe	p.L194F	ENST00000360759	NM_001003745.1	194	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS31421.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAATAAGAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000353988	.	1/1	.	.	.	.	.	.	.	.	COSM932439	1/1	PASS	ENST00000360759	Transcript	.	.	ENSG00000170683	8162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.062)	.	tolerated(0.17)	1	O10A3_HUMAN	OR10A3	HGNC	.	.	UPI00000015AD	SNV	OR10A3,missense_variant,p.Leu194Phe,ENST00000360759,;	656	162	166	SUCCESS
TRIM49C	642612	.	GRCh37	11	89768469	89768469	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	132	0	ENST00000448984.1:c.90T>G	p.Cys30Trp	p.C30W	ENST00000448984	NM_001195234.1	30	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS53694.1	90	RADIA|MUTECT|VARSCANS	.	GACTGTGGGCA	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Gene3D:3.30.40.10,Pfam_domain:PF15227,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF268,PROSITE_profiles:PS50089	.	.	ENSP00000388299	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000448984	Transcript	.	.	ENSG00000204449	38877	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TR49C_HUMAN	TRIM49C	HGNC	.	.	UPI000013EA2B	SNV	TRIM49C,missense_variant,p.Cys30Trp,ENST00000448984,;TRIM49C,missense_variant,p.Cys30Trp,ENST00000432771,;	419	132	103	SUCCESS
TRIM49C	642612	.	GRCh37	11	89768470	89768470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	24	150	0	ENST00000448984.1:c.91G>T	p.Gly31Trp	p.G31W	ENST00000448984	NM_001195234.1	31	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS53694.1	91	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGGGCAC	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Gene3D:3.30.40.10,Pfam_domain:PF15227,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF268,PROSITE_profiles:PS50089	.	.	ENSP00000388299	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000448984	Transcript	.	.	ENSG00000204449	38877	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TR49C_HUMAN	TRIM49C	HGNC	.	.	UPI000013EA2B	SNV	TRIM49C,missense_variant,p.Gly31Trp,ENST00000448984,;TRIM49C,missense_variant,p.Gly31Trp,ENST00000432771,;	420	150	134	SUCCESS
DNAH10	196385	.	GRCh37	12	124341720	124341720	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs557513283	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	97	0	ENST00000409039.3:c.6202G>A	p.Val2068Ile	p.V2068I	ENST00000409039	NM_207437.3	2068	Gtc/Atc	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS9255.2	6202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCGTCCGC	NONE	by1000G	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	A:0	.	ENSP00000386770	A:0	36/78	.	.	.	.	.	.	.	.	rs557513283,COSM430636,COSM430637	36/78	PASS	ENST00000409039	Transcript	.	A:0.0002	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.578)	A:0.001	.	0,1,1	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Val2068Ile,ENST00000409039,;DNAH10,missense_variant,p.Val551Ile,ENST00000497783,;	6227	97	97	SUCCESS
SOX5	6660	.	GRCh37	12	23793762	23793762	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	50	0	ENST00000451604.2:c.1001G>A	p.Gly334Asp	p.G334D	ENST00000451604		334	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS8699.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCCTAAG	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF30	.	.	ENSP00000398273	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000451604	Transcript	.	.	ENSG00000134532	11201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	deleterious(0.04)	.	SOX5_HUMAN	SOX5	HGNC	T2CYZ2_HUMAN,F5GWL1_HUMAN	.	UPI000007405E	SNV	SOX5,missense_variant,p.Gly321Asp,ENST00000309359,;SOX5,missense_variant,p.Gly321Asp,ENST00000381381,;SOX5,missense_variant,p.Gly321Asp,ENST00000546136,;SOX5,missense_variant,p.Gly299Asp,ENST00000537393,;SOX5,missense_variant,p.Gly321Asp,ENST00000541536,;SOX5,missense_variant,p.Gly334Asp,ENST00000451604,;SOX5,missense_variant,p.Gly324Asp,ENST00000545921,;RP11-437F6.1,downstream_gene_variant,,ENST00000546118,;SOX5,non_coding_transcript_exon_variant,,ENST00000536629,;SOX5,non_coding_transcript_exon_variant,,ENST00000535530,;SOX5,missense_variant,p.Gly324Asp,ENST00000367206,;SOX5,non_coding_transcript_exon_variant,,ENST00000536911,;	1103	50	48	SUCCESS
ITPR2	3709	.	GRCh37	12	26640009	26640009	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771479483	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	50	84	0	ENST00000381340.3:c.5546G>T	p.Arg1849Leu	p.R1849L	ENST00000381340	NM_002223.2	1849	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS41764.1	5546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTCGTGGA	NONE	byFrequency	.	hmmpanther:PTHR13715	.	.	ENSP00000370744	.	40/57	.	.	.	.	.	.	.	.	rs771479483	40/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Arg1849Leu,ENST00000381340,;ITPR2,missense_variant,p.Arg86Leu,ENST00000451599,;	5963	84	96	SUCCESS
LRIG3	121227	.	GRCh37	12	59266374	59266374	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs748650167	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	33	55	0	ENST00000320743.3:c.3340T>A	p.Ser1114Thr	p.S1114T	ENST00000320743	NM_153377.4	1114	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS8960.1	3340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGACTGAA	NONE	.	.	.	.	.	ENSP00000326759	.	19/19	.	.	.	.	.	.	.	.	rs748650167	19/19	PASS	ENST00000320743	Transcript	.	.	ENSG00000139263	30991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated_low_confidence(0.12)	.	LRIG3_HUMAN	LRIG3	HGNC	F8VYZ5_HUMAN	.	UPI0000035BB5	SNV	LRIG3,missense_variant,p.Ser1054Thr,ENST00000379141,;LRIG3,missense_variant,p.Ser1114Thr,ENST00000320743,;LRIG3,downstream_gene_variant,,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,downstream_gene_variant,,ENST00000552646,;	3627	55	51	SUCCESS
MYF5	4617	.	GRCh37	12	81112793	81112793	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	31	62	0	ENST00000228644.3:c.731G>C	p.Gly244Ala	p.G244A	ENST00000228644	NM_005593.2	244	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS9020.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGGGCTT	NONE	.	.	hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF3	.	.	ENSP00000228644	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000228644	Transcript	.	.	ENSG00000111049	7565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(0.46)	.	MYF5_HUMAN	MYF5	HGNC	.	.	UPI000013C8D9	SNV	MYF5,missense_variant,p.Gly244Ala,ENST00000228644,;	883	62	52	SUCCESS
FLT1	2321	.	GRCh37	13	28959141	28959141	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	54	112	0	ENST00000282397.4:c.1997A>T	p.Asn666Ile	p.N666I	ENST00000282397	NM_002019.4	666	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS9330.1	1997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTTTCGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF48726	.	.	ENSP00000282397	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,missense_variant,p.Asn666Ile,ENST00000282397,;FLT1,missense_variant,p.Asn666Ile,ENST00000541932,;	2249	112	62	SUCCESS
C14orf166	0	.	GRCh37	14	52458049	52458049	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1442823459	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	154	258	0	ENST00000261700.3:c.76A>G	p.Arg26Gly	p.R26G	ENST00000261700	NM_016039.2	26	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9705.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTAGAAAC	NONE	.	.	hmmpanther:PTHR15924,Pfam_domain:PF10036	.	.	ENSP00000261700	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000261700	Transcript	.	.	ENSG00000087302	23169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	CN166_HUMAN	C14orf166	HGNC	Q549M8_HUMAN	.	UPI000012759D	SNV	C14orf166,missense_variant,p.Arg26Gly,ENST00000261700,;C14orf166,missense_variant,p.Arg26Gly,ENST00000556760,;C14orf166,upstream_gene_variant,,ENST00000553362,;RP11-463J10.4,upstream_gene_variant,,ENST00000555115,;C14orf166,missense_variant,p.Arg26Gly,ENST00000557553,;	241	258	259	SUCCESS
ZSCAN29	146050	.	GRCh37	15	43661977	43661977	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	62	0	ENST00000396976.2:c.135G>T	p.Arg45=	p.R45=	ENST00000396976	NM_152455.3	45	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS10095.2	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCGACA	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000380174	.	1/5	.	.	.	.	.	.	.	.	COSM395572	1/5	PASS	ENST00000396976	Transcript	.	.	ENSG00000140265	26673	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZSC29_HUMAN	ZSCAN29	HGNC	Q96AG1_HUMAN,H3BVH1_HUMAN	.	UPI0000DA5AF5	SNV	ZSCAN29,synonymous_variant,p.%3D,ENST00000396972,;ZSCAN29,synonymous_variant,p.%3D,ENST00000568898,;ZSCAN29,synonymous_variant,p.%3D,ENST00000396976,;ZSCAN29,synonymous_variant,p.%3D,ENST00000562072,;TUBGCP4,upstream_gene_variant,,ENST00000260383,;TUBGCP4,upstream_gene_variant,,ENST00000564079,;ZSCAN29,upstream_gene_variant,,ENST00000570181,;ZSCAN29,downstream_gene_variant,,ENST00000561661,;TUBGCP4,intron_variant,,ENST00000570081,;ZSCAN29,downstream_gene_variant,,ENST00000563508,;ZSCAN29,synonymous_variant,p.%3D,ENST00000566849,;TUBGCP4,upstream_gene_variant,,ENST00000563517,;	270	62	61	SUCCESS
AXIN1	8312	.	GRCh37	16	360070	360070	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	42	77	0	ENST00000262320.3:c.1020-1G>T		p.X340_splice	ENST00000262320	NM_003502.3	340		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10405.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCCTGTCC	NONE	.	.	.	.	.	ENSP00000262320	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,splice_acceptor_variant,,ENST00000262320,;AXIN1,splice_acceptor_variant,,ENST00000354866,;AXIN1,splice_acceptor_variant,,ENST00000481769,;AXIN1,splice_acceptor_variant,,ENST00000461023,;	.	77	51	SUCCESS
MAP2K3	5606	.	GRCh37	17	21203869	21203869	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	109	0	ENST00000342679.4:c.178G>C	p.Glu60Gln	p.E60Q	ENST00000342679	NM_145109.2	60	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS11217.1	178	RADIA|MUTECT|MUSE	.	AGGTGGAGGCT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000345083	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000342679	Transcript	.	.	ENSG00000034152	6843	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.43)	.	MP2K3_HUMAN	MAP2K3	HGNC	Q6FI23_HUMAN,E9PRZ0_HUMAN,D3DXI2_HUMAN	.	UPI000012F48C	SNV	MAP2K3,missense_variant,p.Glu31Gln,ENST00000526076,;MAP2K3,missense_variant,p.Glu31Gln,ENST00000316920,;MAP2K3,missense_variant,p.Glu31Gln,ENST00000361818,;MAP2K3,missense_variant,p.Glu60Gln,ENST00000342679,;MAP2K3,downstream_gene_variant,,ENST00000529517,;MAP2K3,missense_variant,p.Glu60Gln,ENST00000496046,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,;MAP2K3,3_prime_UTR_variant,,ENST00000479129,;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000483928,;	427	109	101	SUCCESS
PIGS	94005	.	GRCh37	17	26885512	26885512	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201018217	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	44	80	0	ENST00000308360.7:c.916C>T	p.Pro306Ser	p.P306S	ENST00000308360	NM_033198.3	306	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11235.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGGTTGA	NONE	.	.	Pfam_domain:PF10510,hmmpanther:PTHR21072	.	.	ENSP00000309430	.	8/12	.	.	.	.	.	.	.	.	rs201018217	8/12	PASS	ENST00000308360	Transcript	.	.	ENSG00000087111	14937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	deleterious(0)	.	PIGS_HUMAN	PIGS	HGNC	Q9BVC1_HUMAN,Q96IR5_HUMAN,F5H019_HUMAN	.	UPI000013D7D9	SNV	PIGS,missense_variant,p.Pro298Ser,ENST00000395346,;PIGS,missense_variant,p.Pro306Ser,ENST00000308360,;PIGS,missense_variant,p.Pro245Ser,ENST00000543734,;PIGS,downstream_gene_variant,,ENST00000465444,;PIGS,downstream_gene_variant,,ENST00000580968,;PIGS,3_prime_UTR_variant,,ENST00000268758,;PIGS,non_coding_transcript_exon_variant,,ENST00000484580,;PIGS,non_coding_transcript_exon_variant,,ENST00000582615,;RP11-192H23.4,intron_variant,,ENST00000481916,;PIGS,downstream_gene_variant,,ENST00000582721,;PIGS,downstream_gene_variant,,ENST00000577620,;PIGS,upstream_gene_variant,,ENST00000492429,;PIGS,downstream_gene_variant,,ENST00000584080,;PIGS,upstream_gene_variant,,ENST00000487231,;	1292	80	67	SUCCESS
SMARCE1	6605	.	GRCh37	17	38798555	38798555	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000348513.6:c.156+152C>A		p.*52*	ENST00000348513	NM_003079.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11370.1	.	MUTECT|MUSE	.	TGTGAGATGCT	NONE	.	.	.	.	.	ENSP00000323967	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348513	Transcript	.	.	ENSG00000073584	11109	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMCE1_HUMAN	SMARCE1	HGNC	J3QR61_HUMAN,J3QKX6_HUMAN,J3KT85_HUMAN,C0IMW8_HUMAN,B4DGM3_HUMAN	.	UPI000006FB55	SNV	SMARCE1,3_prime_UTR_variant,,ENST00000474246,;SMARCE1,intron_variant,,ENST00000582955,;SMARCE1,intron_variant,,ENST00000377808,;SMARCE1,intron_variant,,ENST00000580419,;SMARCE1,intron_variant,,ENST00000478349,;SMARCE1,intron_variant,,ENST00000544009,;SMARCE1,intron_variant,,ENST00000580654,;SMARCE1,intron_variant,,ENST00000431889,;SMARCE1,intron_variant,,ENST00000400122,;SMARCE1,intron_variant,,ENST00000348513,;SMARCE1,intron_variant,,ENST00000577721,;SMARCE1,intron_variant,,ENST00000578044,;SMARCE1,intron_variant,,ENST00000469334,;KRT222,intron_variant,,ENST00000476049,;SMARCE1,intron_variant,,ENST00000578112,;SMARCE1,intron_variant,,ENST00000493660,;SMARCE1,intron_variant,,ENST00000481231,;SMARCE1,upstream_gene_variant,,ENST00000578995,;	.	12	10	SUCCESS
MEOX1	4222	.	GRCh37	17	41738601	41738601	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs183202008	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	118	0	ENST00000318579.4:c.302C>T	p.Ala101Val	p.A101V	ENST00000318579	NM_001040002.1	101	gCc/gTc	0	.	T:0	.	T:0	.	A	A/V	protein_coding	YES	CCDS11466.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGGCGTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24328:SF8,hmmpanther:PTHR24328	T:0.001	.	ENSP00000321684	T:0	1/3	.	.	.	.	.	.	.	.	rs183202008	1/3	PASS	ENST00000318579	Transcript	.	T:0.0002	ENSG00000005102	7013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	T:0	tolerated(0.11)	.	MEOX1_HUMAN	MEOX1	HGNC	.	.	UPI000012F410	SNV	MEOX1,missense_variant,p.Ala101Val,ENST00000318579,;MEOX1,missense_variant,p.Pro72Ser,ENST00000549132,;MEOX1,missense_variant,p.Ala101Val,ENST00000329168,;MEOX1,5_prime_UTR_variant,,ENST00000393661,;	722	118	84	SUCCESS
PPP1R27	116729	.	GRCh37	17	79791796	79791796	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	21	0	ENST00000330261.4:c.342-68G>T		p.*114*	ENST00000330261	NM_001007533.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32767.1	.	RADIA|MUTECT|MUSE	.	CGGGTCAGAGG	NONE	.	.	.	.	.	ENSP00000331065	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330261	Transcript	.	.	ENSG00000182676	16813	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPR27_HUMAN	PPP1R27	HGNC	I3L267_HUMAN	.	UPI0000061E1A	SNV	PPP1R27,3_prime_UTR_variant,,ENST00000570394,;PPP1R27,intron_variant,,ENST00000330261,;FAM195B,upstream_gene_variant,,ENST00000575061,;FAM195B,upstream_gene_variant,,ENST00000455127,;FAM195B,upstream_gene_variant,,ENST00000572645,;FAM195B,upstream_gene_variant,,ENST00000576431,;FAM195B,upstream_gene_variant,,ENST00000538396,;FAM195B,upstream_gene_variant,,ENST00000573478,;PPP1R27,intron_variant,,ENST00000573182,;	.	21	20	SUCCESS
CXADRP3	440224	.	GRCh37	18	14479232	14479232	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	35	0	ENST00000581457.1:n.677G>A		p.*226*	ENST00000581457				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACTCCGCAC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000581457	Transcript	.	.	ENSG00000265766	33974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CXADRP3	HGNC	.	.	.	SNV	CXADRP3,non_coding_transcript_exon_variant,,ENST00000581457,;	677	35	30	SUCCESS
REXO1	57455	.	GRCh37	19	1827911	1827912	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CTCAT	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	16	41	57	0	ENST00000170168.4:c.872_876dup	p.Ala293MetfsTer202	p.A293Mfs*202	ENST00000170168	NM_020695.3	292	-/ATGAG	0	.	.	.	.	.	CTCAT	-/MX	protein_coding	YES	CCDS32866.1	876-877	INDELOCATOR|VARSCANI	.	GGCGGCCTCAT	NONE	.	.	.	.	.	ENSP00000170168	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000170168	Transcript	.	.	ENSG00000079313	24616	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REXO1_HUMAN	REXO1	HGNC	.	.	UPI0000202F63	insertion	REXO1,frameshift_variant,p.Ala293MetfsTer202,ENST00000170168,;CTB-31O20.4,downstream_gene_variant,,ENST00000587741,;CTB-31O20.4,downstream_gene_variant,,ENST00000590531,;CTB-31O20.4,downstream_gene_variant,,ENST00000593201,;REXO1,non_coding_transcript_exon_variant,,ENST00000587524,;CTB-31O20.4,downstream_gene_variant,,ENST00000590823,;	971-972	57	57	SUCCESS
CXCL17	284340	.	GRCh37	19	42947045	42947045	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	78	52	0	ENST00000601181.1:c.-61C>T		p.*21*	ENST00000601181	NM_198477.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12608.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGCTCC	NONE	.	.	.	.	.	ENSP00000472467	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000601181	Transcript	.	.	ENSG00000189377	19232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VCC1_HUMAN	CXCL17	HGNC	.	.	UPI00000389D5	SNV	CXCL17,5_prime_UTR_variant,,ENST00000601181,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000457234,;LIPE-AS1,intron_variant,,ENST00000593740,;LIPE-AS1,intron_variant,,ENST00000594624,;CXCL17,upstream_gene_variant,,ENST00000341918,;	156	52	98	SUCCESS
PNMAL2	0	.	GRCh37	19	46997793	46997793	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	14	78	0	ENST00000599531.1:c.930C>T	p.Asp310=	p.D310=	ENST00000599531	NM_020709.1	310	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS59400.1	930	MUTECT|MUSE|VARSCANS	.	GAAGTGTCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23095:SF19,hmmpanther:PTHR23095	.	.	ENSP00000473036	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000599531	Transcript	.	.	ENSG00000204851	29206	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PNMAL2	HGNC	M0R374_HUMAN	.	UPI0000237925	SNV	PNMAL2,synonymous_variant,p.%3D,ENST00000599531,;AC011484.1,5_prime_UTR_variant,,ENST00000377652,;PNMAL2,intron_variant,,ENST00000377655,;PPP5D1,intron_variant,,ENST00000602017,;PNMAL2,intron_variant,,ENST00000594749,;PPP5D1,upstream_gene_variant,,ENST00000595691,;	1963	78	144	SUCCESS
PRKCG	5582	.	GRCh37	19	54385682	54385682	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	9	47	0	ENST00000263431.3:c.-67T>A		p.*23*	ENST00000263431	NM_002739.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12867.1	.	MUTECT|MUSE	.	CCAGCTCCTCT	NONE	.	.	.	.	.	ENSP00000263431	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,5_prime_UTR_variant,,ENST00000540413,;PRKCG,5_prime_UTR_variant,,ENST00000536044,;PRKCG,5_prime_UTR_variant,,ENST00000263431,;PRKCG,intron_variant,,ENST00000419486,;PRKCG,intron_variant,,ENST00000474397,;PRKCG,intron_variant,,ENST00000479081,;PRKCG,upstream_gene_variant,,ENST00000542049,;	216	47	127	SUCCESS
TTYH1	57348	.	GRCh37	19	54930426	54930426	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749336746	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	56	34	0	ENST00000376530.3:c.251C>G	p.Ser84Trp	p.S84W	ENST00000376530	NM_001201461.1	84	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS33106.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCGCCCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF5,Pfam_domain:PF04906	.	.	ENSP00000365714	.	2/13	.	.	.	.	.	.	.	.	rs749336746,COSM3357197,COSM3357196	2/13	PASS	ENST00000376531	Transcript	.	.	ENSG00000167614	13476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.768)	.	deleterious(0.03)	0,1,1	TTYH1_HUMAN	TTYH1	HGNC	.	.	UPI0000141B60	SNV	TTYH1,missense_variant,p.Ser133Trp,ENST00000391739,;TTYH1,missense_variant,p.Ser84Trp,ENST00000376531,;TTYH1,missense_variant,p.Ser80Trp,ENST00000423529,;TTYH1,missense_variant,p.Ser84Trp,ENST00000376530,;TTYH1,missense_variant,p.Ser133Trp,ENST00000445095,;TTYH1,missense_variant,p.Ser84Trp,ENST00000301194,;TTYH1,non_coding_transcript_exon_variant,,ENST00000462769,;TTYH1,non_coding_transcript_exon_variant,,ENST00000478036,;TTYH1,non_coding_transcript_exon_variant,,ENST00000462757,;TTYH1,upstream_gene_variant,,ENST00000461302,;TTYH1,upstream_gene_variant,,ENST00000476757,;TTYH1,missense_variant,p.Ser20Trp,ENST00000472198,;TTYH1,missense_variant,p.Ser84Trp,ENST00000425969,;TTYH1,non_coding_transcript_exon_variant,,ENST00000487134,;	278	34	65	SUCCESS
BRSK1	84446	.	GRCh37	19	55815479	55815480	+	splice_donor_variant	Splice_Site	INS	-	-	TAA	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	51	0	ENST00000309383.1:c.1347+2_1347+4dup		p.X449_splice	ENST00000309383	NM_032430.1	449		0	.	.	.	.	.	TAA	.	protein_coding	YES	CCDS12921.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGGGTAAGG	NONE	.	.	.	.	.	ENSP00000310649	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	3	.	HIGH	13/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	insertion	BRSK1,splice_donor_variant,,ENST00000326848,;BRSK1,splice_donor_variant,,ENST00000309383,;BRSK1,splice_donor_variant,,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000585418,;BRSK1,downstream_gene_variant,,ENST00000591774,;BRSK1,splice_donor_variant,,ENST00000588584,;BRSK1,intron_variant,,ENST00000586626,;	.	51	82	SUCCESS
C19orf59	0	.	GRCh37	19	7743050	7743050	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs866149522	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	59	0	ENST00000333598.3:c.245C>T	p.Ala82Val	p.A82V	ENST00000333598	NM_174918.2	82	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12183.1	245	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCATCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000329920	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000333598	Transcript	.	.	ENSG00000183019	27291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.931)	.	tolerated(0.14)	.	MCEM1_HUMAN	C19orf59	HGNC	.	.	UPI000007442E	SNV	C19orf59,missense_variant,p.Ala82Val,ENST00000333598,;C19orf59,missense_variant,p.Ala39Val,ENST00000597445,;TRAPPC5,upstream_gene_variant,,ENST00000595985,;TRAPPC5,upstream_gene_variant,,ENST00000426877,;CTD-3214H19.16,upstream_gene_variant,,ENST00000597959,;TRAPPC5,upstream_gene_variant,,ENST00000317378,;TRAPPC5,upstream_gene_variant,,ENST00000596148,;C19orf59,non_coding_transcript_exon_variant,,ENST00000598851,;	699	59	42	SUCCESS
BRINP3	339479	.	GRCh37	1	190068224	190068228	+	frameshift_variant	Frame_Shift_Del	DEL	AGAGA	AGAGA	-	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	AGAGA	AGAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	231	60	178	0	ENST00000367462.3:c.1221_1225del	p.Phe407LeufsTer4	p.F407Lfs*4	ENST00000367462	NM_199051.1	407	ttTCTCTac/ttac	0	.	.	.	.	.	-	FLY/LX	protein_coding	YES	CCDS1373.1	1221-1225	VARSCANI*|PINDEL	.	TGCAGTAGAGAAAAGA	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Superfamily_domains:SSF57184	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	deletion	BRINP3,frameshift_variant,p.Phe305LeufsTer4,ENST00000534846,;BRINP3,frameshift_variant,p.Phe407LeufsTer4,ENST00000367462,;	1453-1457	178	291	SUCCESS
SOX13	9580	.	GRCh37	1	204095155	204095155	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	61	126	0	ENST00000367204.1:c.1762G>A	p.Asp588Asn	p.D588N	ENST00000367204	NM_005686.2	588	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44299.1	1762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGATGAC	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF109	.	.	ENSP00000356172	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000367204	Transcript	.	.	ENSG00000143842	11192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	tolerated(0.22)	.	SOX13_HUMAN	SOX13	HGNC	E9PPW0_HUMAN,E9PKD6_HUMAN,B4E3N9_HUMAN	.	UPI000034ECAB	SNV	SOX13,missense_variant,p.Asp588Asn,ENST00000367204,;SOX13,non_coding_transcript_exon_variant,,ENST00000272193,;SOX13,downstream_gene_variant,,ENST00000480326,;SOX13,downstream_gene_variant,,ENST00000525258,;	1871	126	194	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204198158	204198158	+	synonymous_variant	Silent	SNP	G	G	A	rs1475287376	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	73	0	ENST00000272203.3:c.2658C>T	p.Gly886=	p.G886=	ENST00000272203	NM_014935.4	886	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1444.1	2658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGCCAGG	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,synonymous_variant,p.%3D,ENST00000414478,;PLEKHA6,synonymous_variant,p.%3D,ENST00000272203,;	2975	73	121	SUCCESS
FMN2	56776	.	GRCh37	1	240256986	240256986	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779287443	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	14	0	ENST00000319653.9:c.1577C>T	p.Ala526Val	p.A526V	ENST00000319653	NM_020066.4	526	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31069.2	1577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	1/18	.	.	.	.	.	.	.	.	rs779287443	1/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Ala526Val,ENST00000319653,;FMN2,intron_variant,,ENST00000447095,;	1807	14	37	SUCCESS
TCEB3	0	.	GRCh37	1	24078287	24078287	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	80	162	0	ENST00000418390.2:c.1270G>A	p.Asp424Asn	p.D424N	ENST00000418390	NM_003198.2	424	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS239.2	1270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGATGAA	NONE	.	.	hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141	.	.	ENSP00000395574	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000418390	Transcript	.	.	ENSG00000011007	11620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	tolerated(0.08)	.	ELOA1_HUMAN	TCEB3	HGNC	.	.	UPI000181BA17	SNV	TCEB3,missense_variant,p.Asp424Asn,ENST00000418390,;TCEB3,missense_variant,p.Asp398Asn,ENST00000609199,;TCEB3,downstream_gene_variant,,ENST00000487554,;	1541	162	92	SUCCESS
PDZK1IP1	10158	.	GRCh37	1	47649702	47649702	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs559430062	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	57	0	ENST00000294338.2:c.286G>T	p.Glu96Ter	p.E96*	ENST00000294338	NM_005764.3	96	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS546.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTCATGCT	NONE	.	.	hmmpanther:PTHR15296:SF0,hmmpanther:PTHR15296	.	.	ENSP00000294338	.	4/4	.	.	.	.	.	.	.	.	rs559430062	4/4	PASS	ENST00000294338	Transcript	.	.	ENSG00000162366	16887	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDZ1I_HUMAN	PDZK1IP1	HGNC	.	.	UPI000004EC8A	SNV	PDZK1IP1,stop_gained,p.Glu96Ter,ENST00000294338,;PDZK1IP1,stop_gained,p.Glu96Ter,ENST00000371885,;CYP4A22-AS1,upstream_gene_variant,,ENST00000444042,;LINC00853,downstream_gene_variant,,ENST00000429328,;PDZK1IP1,non_coding_transcript_exon_variant,,ENST00000491793,;PDZK1IP1,non_coding_transcript_exon_variant,,ENST00000489919,;	409	57	58	SUCCESS
DMRTA2	63950	.	GRCh37	1	50885040	50885040	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	17	0	ENST00000404795.3:c.926C>A	p.Ser309Ter	p.S309*	ENST00000404795	NM_032110.2	309	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS44141.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGAGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF15	.	.	ENSP00000383909	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000404795	Transcript	.	.	ENSG00000142700	13908	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMTA2_HUMAN	DMRTA2	HGNC	.	.	UPI00003D7962	SNV	DMRTA2,stop_gained,p.Ser309Ter,ENST00000418121,;DMRTA2,stop_gained,p.Ser309Ter,ENST00000404795,;	1319	17	31	SUCCESS
DEPDC1	55635	.	GRCh37	1	68947881	68947881	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	60	74	0	ENST00000456315.2:c.1610A>T	p.Asn537Ile	p.N537I	ENST00000456315	NM_001114120.1	537	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS44159.1	1610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATTTGGT	NONE	.	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12	.	.	ENSP00000412292	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000456315	Transcript	.	.	ENSG00000024526	22949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.07)	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	SNV	DEPDC1,missense_variant,p.Asn537Ile,ENST00000456315,;DEPDC1,intron_variant,,ENST00000370966,;DEPDC1,downstream_gene_variant,,ENST00000525124,;RP4-694A7.2,intron_variant,,ENST00000425820,;DEPDC1,non_coding_transcript_exon_variant,,ENST00000488146,;DEPDC1,intron_variant,,ENST00000489862,;	1725	74	138	SUCCESS
PIN1P1	5301	.	GRCh37	1	70385196	70385196	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	19	0	ENST00000412108.1:n.192G>A		p.*64*	ENST00000412108				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS645.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGCCAGG	NONE	.	.	.	.	.	ENSP00000035383	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODIFIER	5/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,intron_variant,,ENST00000415775,;LRRC7,intron_variant,,ENST00000035383,;LRRC7,intron_variant,,ENST00000310961,;PIN1P1,non_coding_transcript_exon_variant,,ENST00000412108,;PIN1P1,non_coding_transcript_exon_variant,,ENST00000439639,;	.	19	28	SUCCESS
FAM209B	388799	.	GRCh37	20	55111253	55111253	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760116795	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	143	120	0	ENST00000371325.1:c.275G>T	p.Gly92Val	p.G92V	ENST00000371325	NM_001013646.3	92	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33494.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGGCTTCC	NONE	.	.	Pfam_domain:PF15206	.	.	ENSP00000360376	.	2/2	.	.	.	.	.	.	.	.	rs760116795	2/2	PASS	ENST00000371325	Transcript	.	.	ENSG00000213714	16101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	deleterious(0)	.	F209B_HUMAN	FAM209B	HGNC	.	.	UPI00001D82E0	SNV	FAM209B,missense_variant,p.Gly92Val,ENST00000371325,;	371	120	228	SUCCESS
DGCR14	0	.	GRCh37	22	19124915	19124915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	82	0	ENST00000252137.6:c.956G>T	p.Gly319Val	p.G319V	ENST00000252137	NM_022719.2	319	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13756.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCCCAG	NONE	.	.	hmmpanther:PTHR12940,Pfam_domain:PF09751	.	.	ENSP00000252137	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000252137	Transcript	.	.	ENSG00000100056	16817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DGC14_HUMAN	DGCR14	HGNC	.	.	UPI0000129227	SNV	DGCR14,missense_variant,p.Gly319Val,ENST00000252137,;TSSK2,downstream_gene_variant,,ENST00000399635,;DGCR14,3_prime_UTR_variant,,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;	1000	82	78	SUCCESS
TAB1	10454	.	GRCh37	22	39795788	39795788	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	53	102	0	ENST00000216160.6:c.-20C>T		p.*7*	ENST00000216160	NM_006116.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13993.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTCCCGCA	NONE	.	.	.	.	.	ENSP00000216160	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000216160	Transcript	.	.	ENSG00000100324	18157	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAB1_HUMAN	TAB1	HGNC	B7Z9N9_HUMAN,A8K6K3_HUMAN	.	UPI0000136861	SNV	TAB1,5_prime_UTR_variant,,ENST00000216160,;TAB1,upstream_gene_variant,,ENST00000331454,;TAB1,non_coding_transcript_exon_variant,,ENST00000473613,;	43	102	122	SUCCESS
LONRF2	164832	.	GRCh37	2	100911944	100911944	+	synonymous_variant	Silent	SNP	T	T	C	rs1559177170	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	51	102	1	ENST00000393437.3:c.1548A>G	p.Glu516=	p.E516=	ENST00000393437	NM_198461.3	516	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS2046.2	1548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAATTCATC	NONE	.	.	hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF5	.	.	ENSP00000377086	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000393437	Transcript	.	.	ENSG00000170500	24788	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LONF2_HUMAN	LONRF2	HGNC	.	.	UPI000152B4EF	SNV	LONRF2,synonymous_variant,p.%3D,ENST00000393437,;LONRF2,synonymous_variant,p.%3D,ENST00000409647,;	2188	103	118	SUCCESS
CYTIP	9595	.	GRCh37	2	158300471	158300471	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773448120	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	63	0	ENST00000264192.3:c.62G>A	p.Gly21Glu	p.G21E	ENST00000264192	NM_004288.4	21	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS2204.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCAGCG	NONE	.	.	hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF1	.	.	ENSP00000264192	.	1/8	.	.	.	.	.	.	.	.	rs773448120	1/8	PASS	ENST00000264192	Transcript	.	.	ENSG00000115165	9506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.343)	.	tolerated(0.09)	.	CYTIP_HUMAN	CYTIP	HGNC	C9JSM2_HUMAN,C9JRF8_HUMAN,C9JNN8_HUMAN,B4DWH9_HUMAN	.	UPI0000035D67	SNV	CYTIP,missense_variant,p.Gly21Glu,ENST00000264192,;CYTIP,5_prime_UTR_variant,,ENST00000435117,;CYTIP,5_prime_UTR_variant,,ENST00000439355,;CYTIP,intron_variant,,ENST00000540637,;CYTIP,upstream_gene_variant,,ENST00000418920,;AC019201.1,downstream_gene_variant,,ENST00000401235,;CYTIP,intron_variant,,ENST00000497432,;CYTIP,missense_variant,p.Gly21Glu,ENST00000457793,;CYTIP,non_coding_transcript_exon_variant,,ENST00000483929,;CYTIP,non_coding_transcript_exon_variant,,ENST00000462109,;	184	63	69	SUCCESS
RBM45	129831	.	GRCh37	2	178985043	178985043	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	57	125	0	ENST00000286070.5:c.580A>T	p.Asn194Tyr	p.N194Y	ENST00000286070	NM_152945.2	194	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS33335.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAAATAAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF37,hmmpanther:PTHR24011	.	.	ENSP00000286070	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000286070	Transcript	.	.	ENSG00000155636	24468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0.01)	.	RBM45_HUMAN	RBM45	HGNC	.	.	UPI00001AEAD8	SNV	RBM45,missense_variant,p.Asn194Tyr,ENST00000286070,;RBM45,upstream_gene_variant,,ENST00000455903,;RBM45,non_coding_transcript_exon_variant,,ENST00000424000,;RBM45,upstream_gene_variant,,ENST00000493048,;	672	125	160	SUCCESS
TTN	7273	.	GRCh37	2	179451970	179451970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	59	104	0	ENST00000591111.1:c.59045C>T	p.Thr19682Ile	p.T19682I	ENST00000591111		19682	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS59435.1	63968	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTGTTTTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	307/363	.	.	.	.	.	.	.	.	.	307/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Thr12383Ile,ENST00000359218,;TTN,missense_variant,p.Thr19682Ile,ENST00000591111,;TTN,missense_variant,p.Thr21323Ile,ENST00000589042,;TTN,missense_variant,p.Thr12450Ile,ENST00000342175,;TTN,missense_variant,p.Thr18755Ile,ENST00000342992,;TTN,missense_variant,p.Thr12258Ile,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000589234,;TTN-AS1,downstream_gene_variant,,ENST00000438095,;TTN-AS1,downstream_gene_variant,,ENST00000586707,;TTN-AS1,downstream_gene_variant,,ENST00000586831,;TTN-AS1,downstream_gene_variant,,ENST00000592600,;	64193	104	124	SUCCESS
ADAM23	8745	.	GRCh37	2	207437863	207437863	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1436495199	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	44	83	0	ENST00000264377.3:c.1681C>T	p.Arg561Trp	p.R561W	ENST00000264377	NM_003812.3	561	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2369.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCCGGGAT	NONE	.	.	Superfamily_domains:SSF57552,SMART_domains:SM00050,Pfam_domain:PF00200,Gene3D:4.10.70.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50214	.	.	ENSP00000264377	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,missense_variant,p.Arg561Trp,ENST00000374415,;ADAM23,missense_variant,p.Arg561Trp,ENST00000374416,;ADAM23,missense_variant,p.Arg561Trp,ENST00000264377,;	2009	83	105	SUCCESS
BIRC6	57448	.	GRCh37	2	32724628	32724628	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776176230	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	29	39	0	ENST00000421745.2:c.8483C>T	p.Thr2828Ile	p.T2828I	ENST00000421745	NM_016252.3	2828	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS33175.2	8483	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACAGGCC	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	46/74	.	.	.	.	.	.	.	.	rs776176230	46/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.143)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Thr2828Ile,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000497023,;	8617	39	65	SUCCESS
CCDC39	339829	.	GRCh37	3	180334069	180334069	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1411654281	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	86	0	ENST00000442201.2:c.2669G>A	p.Arg890Lys	p.R890K	ENST00000442201	NM_181426.1	890	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS46964.1	2669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	tolerated(0.24)	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,missense_variant,p.Arg62Lys,ENST00000489868,;CCDC39,missense_variant,p.Arg74Lys,ENST00000473854,;CCDC39,missense_variant,p.Arg890Lys,ENST00000442201,;CCDC39,splice_region_variant,,ENST00000273654,;TTC14,intron_variant,,ENST00000382584,;CCDC39,splice_region_variant,,ENST00000476379,;	2789	86	86	SUCCESS
SETD2	29072	.	GRCh37	3	47129617	47129617	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	52	0	ENST00000409792.3:c.5263C>G	p.Leu1755Val	p.L1755V	ENST00000409792	NM_014159.6	1755	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS2749.2	5263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGACAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000386759	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Leu1755Val,ENST00000409792,;snoU13,upstream_gene_variant,,ENST00000516129,;SETD2,upstream_gene_variant,,ENST00000492397,;SETD2,missense_variant,p.Leu1389Val,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,downstream_gene_variant,,ENST00000484689,;	5306	52	75	SUCCESS
EOGT	285203	.	GRCh37	3	69028841	69028841	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	66	100	0	ENST00000383701.3:c.1312G>A	p.Asp438Asn	p.D438N	ENST00000383701	NM_001278689.1	438	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2908.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCTGGAA	NONE	.	.	hmmpanther:PTHR20961:SF3,hmmpanther:PTHR20961,Pfam_domain:PF04577	.	.	ENSP00000295571	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000295571	Transcript	.	.	ENSG00000163378	28526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.1)	.	EOGT_HUMAN	EOGT	HGNC	F5H225_HUMAN,C9JQM7_HUMAN,C9J4G5_HUMAN	.	UPI00002132FF	SNV	EOGT,missense_variant,p.Asp162Asn,ENST00000540955,;EOGT,missense_variant,p.Asp337Asn,ENST00000540764,;EOGT,missense_variant,p.Asp438Asn,ENST00000383701,;EOGT,missense_variant,p.Asp354Asn,ENST00000295571,;EOGT,3_prime_UTR_variant,,ENST00000403140,;EOGT,non_coding_transcript_exon_variant,,ENST00000496647,;EOGT,downstream_gene_variant,,ENST00000480846,;	1465	100	104	SUCCESS
GABRG1	2565	.	GRCh37	4	46043146	46043146	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	7	135	0	ENST00000295452.4:c.1257T>G	p.Phe419Leu	p.F419L	ENST00000295452	NM_173536.3	419	ttT/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS3470.1	1257	MUTECT|MUSE	.	TCTTCAAAGCA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Superfamily_domains:SSF90112,Prints_domain:PR01620	.	.	ENSP00000295452	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.965)	.	tolerated(0.37)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Phe419Leu,ENST00000295452,;	1425	135	182	SUCCESS
GNB2L1	0	.	GRCh37	5	180666153	180666153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	46	0	ENST00000512805.1:c.550C>A	p.Leu184Met	p.L184M	ENST00000512805	NM_006098.4	184	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS34324.1	550	MUTECT|MUSE	.	CTTCAGCTTGC	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19868,hmmpanther:PTHR19868:SF0,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000426909	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000512805	Transcript	.	.	ENSG00000204628	4399	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.03)	.	GBLP_HUMAN	GNB2L1	HGNC	E9KL35_HUMAN,D6RFX4_HUMAN,D6RF23_HUMAN	.	UPI0000001602	SNV	GNB2L1,missense_variant,p.Leu136Met,ENST00000511900,;GNB2L1,missense_variant,p.Leu91Met,ENST00000504128,;GNB2L1,missense_variant,p.Leu160Met,ENST00000503081,;GNB2L1,missense_variant,p.Leu202Met,ENST00000512968,;GNB2L1,missense_variant,p.Leu170Met,ENST00000502844,;GNB2L1,missense_variant,p.Leu115Met,ENST00000507756,;GNB2L1,missense_variant,p.Leu140Met,ENST00000376817,;GNB2L1,missense_variant,p.Leu42Met,ENST00000509535,;GNB2L1,missense_variant,p.Leu184Met,ENST00000511566,;GNB2L1,missense_variant,p.Leu143Met,ENST00000507000,;GNB2L1,missense_variant,p.Leu232Met,ENST00000510199,;GNB2L1,missense_variant,p.Leu184Met,ENST00000512805,;GNB2L1,intron_variant,,ENST00000504726,;GNB2L1,intron_variant,,ENST00000502905,;GNB2L1,upstream_gene_variant,,ENST00000509148,;TRIM41,downstream_gene_variant,,ENST00000315073,;GNB2L1,downstream_gene_variant,,ENST00000456394,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,upstream_gene_variant,,ENST00000514455,;TRIM41,downstream_gene_variant,,ENST00000515499,;TRIM41,downstream_gene_variant,,ENST00000351937,;SNORD95,downstream_gene_variant,,ENST00000579879,;SNORD96A,downstream_gene_variant,,ENST00000606577,;GNB2L1,downstream_gene_variant,,ENST00000505461,;GNB2L1,downstream_gene_variant,,ENST00000503170,;GNB2L1,downstream_gene_variant,,ENST00000514318,;TRIM41,downstream_gene_variant,,ENST00000510072,;GNB2L1,3_prime_UTR_variant,,ENST00000508682,;GNB2L1,3_prime_UTR_variant,,ENST00000503494,;GNB2L1,3_prime_UTR_variant,,ENST00000504325,;GNB2L1,3_prime_UTR_variant,,ENST00000506312,;GNB2L1,3_prime_UTR_variant,,ENST00000511473,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000514183,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000502548,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000513060,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000502890,;GNB2L1,upstream_gene_variant,,ENST00000507273,;TRIM41,downstream_gene_variant,,ENST00000515223,;TRIM41,downstream_gene_variant,,ENST00000503114,;GNB2L1,downstream_gene_variant,,ENST00000507261,;GNB2L1,downstream_gene_variant,,ENST00000508044,;TRIM41,downstream_gene_variant,,ENST00000508930,;GNB2L1,downstream_gene_variant,,ENST00000508963,;TRIM41,downstream_gene_variant,,ENST00000514219,;GNB2L1,downstream_gene_variant,,ENST00000515417,;	959	46	43	SUCCESS
HECA	51696	.	GRCh37	6	139456503	139456503	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	69	0	ENST00000367658.2:c.-31C>A		p.*11*	ENST00000367658	NM_016217.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5194.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGCCGGGC	NONE	.	.	.	.	.	ENSP00000356630	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000367658	Transcript	.	.	ENSG00000112406	21041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDC_HUMAN	HECA	HGNC	.	.	UPI000006D0F2	SNV	HECA,5_prime_UTR_variant,,ENST00000367658,;	255	69	77	SUCCESS
SASH1	23328	.	GRCh37	6	148846451	148846451	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	53	0	ENST00000367467.3:c.1234G>C	p.Asp412His	p.D412H	ENST00000367467	NM_015278.3	412	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS5212.1	1234	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGACTTG	NONE	.	.	hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301,Pfam_domain:PF12485	.	.	ENSP00000356437	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,missense_variant,p.Asp412His,ENST00000367467,;AL033378.1,upstream_gene_variant,,ENST00000411390,;	1709	53	57	SUCCESS
ARID1B	57492	.	GRCh37	6	157100005	157100005	+	synonymous_variant	Silent	SNP	C	C	A	rs184815562	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	42	1	ENST00000346085.5:c.942C>A	p.Gly314=	p.G314=	ENST00000346085	NM_020732.3	314	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55072.1	942	MUTECT|MUSE	likely_benign	GGCGGCGGAGG	SITE|p.G314G|c.942C>A|3,SITE|p.G256G|c.768C>A|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	.	.	ENSP00000344546	.	1/20	.	.	.	.	.	.	.	.	rs184815562,COSM3781610,COSM3781609	1/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	.	.	.	0,1,1	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,upstream_gene_variant,,ENST00000414678,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;RP11-230C9.2,upstream_gene_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;	943	44	61	SUCCESS
ARID1B	57492	.	GRCh37	6	157100329	157100329	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	16	0	ENST00000346085.5:c.1266G>A	p.Leu422=	p.L422=	ENST00000346085	NM_020732.3	422	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55072.1	1266	RADIA|MUSE	.	CAGCTGCTCAC	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,upstream_gene_variant,,ENST00000414678,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;RP11-230C9.2,upstream_gene_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;	1267	16	20	SUCCESS
LPA	4018	.	GRCh37	6	160953610	160953611	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	32	0	ENST00000316300.5:c.5913dup	p.Lys1972Ter	p.K1972*	ENST00000316300		1971	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS43523.1	5913-5914	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACTTATAGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24261,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000395608	.	39/40	.	.	.	.	.	.	.	.	.	39/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	insertion	LPA,frameshift_variant,p.Lys1972Ter,ENST00000316300,;LPA,frameshift_variant,p.Lys1972Ter,ENST00000447678,;	6034-6035	32	56	SUCCESS
IMPG1	3617	.	GRCh37	6	76712648	76712648	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	58	99	0	ENST00000369950.3:c.1278G>T	p.Glu426Asp	p.E426D	ENST00000369950	NM_001563.2	426	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4985.1	1278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCTCTGC	NONE	.	.	hmmpanther:PTHR12199	.	.	ENSP00000358966	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000369950	Transcript	.	.	ENSG00000112706	6055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.43)	.	IMPG1_HUMAN	IMPG1	HGNC	H0UI08_HUMAN	.	UPI0000073F12	SNV	IMPG1,missense_variant,p.Glu426Asp,ENST00000369950,;IMPG1,3_prime_UTR_variant,,ENST00000369963,;	1468	99	132	SUCCESS
AGMO	392636	.	GRCh37	7	15427093	15427093	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	88	0	ENST00000342526.3:c.895T>A	p.Phe299Ile	p.F299I	ENST00000342526	NM_001004320.1	299	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS34604.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAAATATGA	NONE	.	.	hmmpanther:PTHR21624	.	.	ENSP00000341662	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000342526	Transcript	.	.	ENSG00000187546	33784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	tolerated(0.06)	.	ALKMO_HUMAN	AGMO	HGNC	.	.	UPI0000050343	SNV	AGMO,missense_variant,p.Phe299Ile,ENST00000342526,;	1065	88	108	SUCCESS
DPP6	1804	.	GRCh37	7	154379707	154379707	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	59	0	ENST00000377770.3:c.628-49824T>A		p.*210*	ENST00000377770				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGTGGCAG	NONE	.	.	.	.	.	ENSP00000367001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODIFIER	5/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,stop_gained,p.Cys325Ter,ENST00000406326,;DPP6,intron_variant,,ENST00000427557,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000332007,;DPP6,intron_variant,,ENST00000404039,;DPP6,downstream_gene_variant,,ENST00000496611,;	.	59	92	SUCCESS
SNORA15	677803	.	GRCh37	7	65225091	65225091	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	16	0	ENST00000384058.1:n.53T>C		p.*18*	ENST00000384058				0	.	.	.	.	.	C	.	snoRNA	YES	.	.	RADIA|MUTECT	.	CACCATGCAAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384058	Transcript	.	.	ENSG00000206785	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SNORA15	RFAM	.	.	.	SNV	SNORA15,non_coding_transcript_exon_variant,,ENST00000384058,;SNORA22,downstream_gene_variant,,ENST00000383907,;CCT6P1,intron_variant,,ENST00000442266,;CCT6P1,intron_variant,,ENST00000443108,;CCT6P1,intron_variant,,ENST00000434500,;	53	16	12	SUCCESS
CRCP	27297	.	GRCh37	7	65579921	65579921	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	46	56	0	ENST00000395326.3:c.-29G>T		p.*10*	ENST00000395326	NM_014478.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5532.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGGCAGC	NONE	.	.	.	.	.	ENSP00000378736	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000395326	Transcript	.	.	ENSG00000241258	17888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPC9_HUMAN	CRCP	HGNC	.	.	UPI0000128406	SNV	CRCP,5_prime_UTR_variant,,ENST00000338592,;CRCP,5_prime_UTR_variant,,ENST00000398684,;CRCP,5_prime_UTR_variant,,ENST00000395326,;CRCP,intron_variant,,ENST00000431089,;AC068533.7,intron_variant,,ENST00000450043,;RP5-1132H15.1,downstream_gene_variant,,ENST00000435524,;CRCP,5_prime_UTR_variant,,ENST00000360415,;CRCP,non_coding_transcript_exon_variant,,ENST00000486848,;	330	56	87	SUCCESS
UBR5	51366	.	GRCh37	8	103335715	103335715	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	28	89	0	ENST00000520539.1:c.1608G>C	p.Leu536Phe	p.L536F	ENST00000520539	NM_015902.5	536	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS34933.1	1608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCAAGCA	NONE	.	.	hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254	.	.	ENSP00000429084	.	14/59	.	.	.	.	.	.	.	.	COSM453768	14/59	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.702)	.	deleterious(0.01)	1	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,missense_variant,p.Leu536Phe,ENST00000520539,;UBR5,missense_variant,p.Leu536Phe,ENST00000220959,;UBR5,missense_variant,p.Leu530Phe,ENST00000521922,;	2215	89	125	SUCCESS
CSMD3	114788	.	GRCh37	8	113697726	113697726	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	102	100	0	ENST00000297405.5:c.2391T>A	p.Pro797=	p.P797=	ENST00000297405	NM_198123.1	797	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6315.1	2391	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAAGGCAC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	15/71	.	.	.	.	.	.	.	.	.	15/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	2636	100	106	SUCCESS
TRPS1	7227	.	GRCh37	8	116426936	116426936	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs78385846	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	122	102	0	ENST00000220888.5:c.3161C>A	p.Ser1054Tyr	p.S1054Y	ENST00000220888		1054	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6318.2	3200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACGGATGAA	NONE	suspect|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	7/7	.	.	.	.	.	.	.	.	rs78385846	7/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated_low_confidence(0.16)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Ser1058Tyr,ENST00000520276,;TRPS1,missense_variant,p.Ser1054Tyr,ENST00000220888,;TRPS1,missense_variant,p.Ser179Tyr,ENST00000518018,;TRPS1,missense_variant,p.Ser808Tyr,ENST00000519076,;TRPS1,missense_variant,p.Ser1067Tyr,ENST00000395715,;	3778	102	134	SUCCESS
ZNF703	80139	.	GRCh37	8	37554679	37554679	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	19	70	0	ENST00000331569.4:c.260G>A	p.Ser87Asn	p.S87N	ENST00000331569	NM_025069.1	87	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS6094.1	260	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGCCCCT	NONE	.	.	hmmpanther:PTHR12522:SF2,hmmpanther:PTHR12522	.	.	ENSP00000332325	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331569	Transcript	.	.	ENSG00000183779	25883	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.827)	.	deleterious(0.02)	.	ZN703_HUMAN	ZNF703	HGNC	.	.	UPI0000073D30	SNV	ZNF703,missense_variant,p.Ser87Asn,ENST00000331569,;	489	70	27	SUCCESS
SVEP1	79987	.	GRCh37	9	113170455	113170455	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	51	73	0	ENST00000374469.1:c.7356T>C	p.Asn2452=	p.N2452=	ENST00000374469		2452	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS48004.1	7425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTATTTCC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	38/48	.	.	.	.	.	.	.	.	.	38/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,synonymous_variant,p.%3D,ENST00000401783,;SVEP1,synonymous_variant,p.%3D,ENST00000374469,;SVEP1,synonymous_variant,p.%3D,ENST00000297826,;	7762	73	64	SUCCESS
TNC	3371	.	GRCh37	9	117849523	117849523	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368041702	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	67	122	0	ENST00000350763.4:c.487G>A	p.Gly163Ser	p.G163S	ENST00000350763	NM_002160.3	163	Ggt/Agt	0	A:0	.	.	.	.	T	G/S	protein_coding	YES	CCDS6811.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACCGCTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Gene3D:2gy5A03	.	A:0.0001	ENSP00000265131	.	3/28	.	.	.	.	.	.	.	.	rs368041702	3/28	PASS	ENST00000350763	Transcript	.	.	ENSG00000041982	5318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	TENA_HUMAN	TNC	HGNC	F5H5D6_HUMAN	.	UPI000013D5BD	SNV	TNC,missense_variant,p.Gly163Ser,ENST00000345230,;TNC,missense_variant,p.Gly163Ser,ENST00000542877,;TNC,missense_variant,p.Gly163Ser,ENST00000346706,;TNC,missense_variant,p.Gly163Ser,ENST00000537320,;TNC,missense_variant,p.Gly163Ser,ENST00000341037,;TNC,missense_variant,p.Gly163Ser,ENST00000350763,;TNC,missense_variant,p.Gly163Ser,ENST00000535648,;TNC,missense_variant,p.Gly163Ser,ENST00000340094,;TNC,missense_variant,p.Gly163Ser,ENST00000423613,;TNC,downstream_gene_variant,,ENST00000534839,;	899	122	147	SUCCESS
LCN15	389812	.	GRCh37	9	139656673	139656673	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	64	139	0	ENST00000316144.5:c.487C>A	p.Pro163Thr	p.P163T	ENST00000316144	NM_203347.1	163	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS7006.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGGAGCC	NONE	.	.	Prints_domain:PR01254,Superfamily_domains:SSF50814,Pfam_domain:PF00061,Gene3D:2.40.128.20,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF62	.	.	ENSP00000313833	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000316144	Transcript	.	.	ENSG00000177984	33777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.58)	.	LCN15_HUMAN	LCN15	HGNC	.	.	UPI000004C645	SNV	LCN15,missense_variant,p.Pro163Thr,ENST00000316144,;LCN8,upstream_gene_variant,,ENST00000371688,;LCN15,non_coding_transcript_exon_variant,,ENST00000482511,;LCN15,intron_variant,,ENST00000495223,;LCN8,upstream_gene_variant,,ENST00000479767,;LCN8,upstream_gene_variant,,ENST00000482893,;	512	139	159	SUCCESS
THOC2	57187	.	GRCh37	X	122747491	122747491	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	64	115	1	ENST00000245838.8:c.4518A>G		p.X1506_splice	ENST00000245838	NM_001081550.1	1506	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS43988.1	4518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTTGTTCC	NONE	.	.	hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1	.	.	ENSP00000245838	.	35/39	.	.	.	.	.	.	.	.	.	35/39	PASS	ENST00000245838	Transcript	.	.	ENSG00000125676	19073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THOC2_HUMAN	THOC2	HGNC	.	.	UPI00001D7C42	SNV	THOC2,synonymous_variant,p.%3D,ENST00000245838,;THOC2,synonymous_variant,p.%3D,ENST00000491737,;THOC2,synonymous_variant,p.%3D,ENST00000416618,;THOC2,synonymous_variant,p.%3D,ENST00000441692,;THOC2,synonymous_variant,p.%3D,ENST00000355725,;THOC2,synonymous_variant,p.%3D,ENST00000448128,;THOC2,upstream_gene_variant,,ENST00000455053,;THOC2,splice_region_variant,,ENST00000497887,;THOC2,intron_variant,,ENST00000492203,;THOC2,splice_region_variant,,ENST00000496830,;THOC2,splice_region_variant,,ENST00000464992,;THOC2,splice_region_variant,,ENST00000432353,;	4550	116	77	SUCCESS
WDR45	11152	.	GRCh37	X	48934603	48934603	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	0	12	19	0	ENST00000376372.3:c.236-194T>A		p.*79*	ENST00000376372	NM_001029896.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14318.1	.	MUTECT|MUSE	.	GTTACACTCAT	NONE	.	.	.	.	.	ENSP00000348848	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356463	Transcript	.	.	ENSG00000196998	28912	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WIPI4_HUMAN	WDR45	HGNC	C9J7Q8_HUMAN	.	UPI000035B01F	SNV	WDR45,intron_variant,,ENST00000367375,;WDR45,intron_variant,,ENST00000419567,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000322995,;WDR45,intron_variant,,ENST00000476728,;WDR45,intron_variant,,ENST00000396681,;WDR45,intron_variant,,ENST00000376372,;WDR45,intron_variant,,ENST00000473974,;WDR45,intron_variant,,ENST00000465382,;WDR45,intron_variant,,ENST00000485908,;WDR45,intron_variant,,ENST00000356463,;WDR45,intron_variant,,ENST00000376368,;WDR45,intron_variant,,ENST00000474053,;WDR45,intron_variant,,ENST00000553851,;WDR45,intron_variant,,ENST00000471338,;WDR45,intron_variant,,ENST00000475880,;WDR45,upstream_gene_variant,,ENST00000475977,;WDR45,upstream_gene_variant,,ENST00000486337,;PRAF2,upstream_gene_variant,,ENST00000376390,;WDR45,downstream_gene_variant,,ENST00000423215,;PRAF2,upstream_gene_variant,,ENST00000376386,;WDR45,non_coding_transcript_exon_variant,,ENST00000465431,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,non_coding_transcript_exon_variant,,ENST00000465806,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,upstream_gene_variant,,ENST00000480412,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,upstream_gene_variant,,ENST00000433252,;WDR45,upstream_gene_variant,,ENST00000472654,;	.	19	13	SUCCESS
TLX1NB	100038246	.	GRCh37	10	102850149	102850149	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	5	42	0	ENST00000445873.1:c.-487C>T		p.*163*	ENST00000445873	NM_001085398.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS60615.1	.	MUTECT|MUSE	.	GGGGTGACTGG	NONE	.	.	.	.	.	ENSP00000475001	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445873	Transcript	.	.	ENSG00000236311	37183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TLXNB_HUMAN	TLX1NB	HGNC	.	.	UPI0000141B8A	SNV	TLX1NB,5_prime_UTR_variant,,ENST00000445873,;TLX1NB,non_coding_transcript_exon_variant,,ENST00000425505,;	791	42	67	SUCCESS
MUC5AC	4586	.	GRCh37	11	1159375	1159375	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372695156	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	48	0	ENST00000534821.1:c.1352C>T	p.Thr451Met	p.T451M	ENST00000534821		451	aCg/aTg	0	T:0	T:0	.	T:0.0014	.	T	T/M	protein_coding	YES	.	1352	MUTECT|MUSE	.	ATACACGGTGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF248,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216	T:0	T:0.0003	ENSP00000435591	T:0	11/15	.	.	.	.	.	.	.	.	rs372695156	11/15	PASS	ENST00000534821	Transcript	.	T:0.0002	ENSG00000215182	7515	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.8)	T:0	deleterious(0.01)	.	.	MUC5AC	HGNC	Q7LDT3_HUMAN,E9PJ98_HUMAN	.	UPI0000456454	SNV	MUC5AC,missense_variant,p.Thr448Met,ENST00000356191,;MUC5AC,missense_variant,p.Thr451Met,ENST00000534821,;	1399	48	47	SUCCESS
TIGD3	220359	.	GRCh37	11	65124527	65124527	+	synonymous_variant	Silent	SNP	C	C	T	rs757126205	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	8	78	0	ENST00000309880.5:c.1248C>T	p.Asp416=	p.D416=	ENST00000309880	NM_145719.2	416	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS8101.1	1248	MUTECT|MUSE|VARSCANS	.	GAAGACGAGAA	NONE	byFrequency	.	hmmpanther:PTHR19303:SF163,hmmpanther:PTHR19303	.	.	ENSP00000308354	.	2/2	.	.	.	.	.	.	.	.	rs757126205	2/2	PASS	ENST00000309880	Transcript	.	.	ENSG00000173825	18334	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIGD3_HUMAN	TIGD3	HGNC	.	.	UPI000013EF51	SNV	TIGD3,synonymous_variant,p.%3D,ENST00000309880,;DPF2,downstream_gene_variant,,ENST00000531989,;DPF2,downstream_gene_variant,,ENST00000252268,;DPF2,downstream_gene_variant,,ENST00000415073,;DPF2,downstream_gene_variant,,ENST00000528416,;DPF2,downstream_gene_variant,,ENST00000524666,;DPF2,downstream_gene_variant,,ENST00000532052,;	1455	78	101	SUCCESS
DDX47	51202	.	GRCh37	12	12974309	12974309	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	61	0	ENST00000358007.3:c.349T>G	p.Ser117Ala	p.S117A	ENST00000358007	NM_016355.3	117	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS8655.1	349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGTCCTCT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF78,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000350698	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000358007	Transcript	.	.	ENSG00000213782	18682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.34)	.	DDX47_HUMAN	DDX47	HGNC	Q7Z4B1_HUMAN,A4UCU0_HUMAN	.	UPI0000037B84	SNV	DDX47,missense_variant,p.Ser117Ala,ENST00000358007,;DDX47,missense_variant,p.Ser117Ala,ENST00000352940,;DDX47,intron_variant,,ENST00000544400,;DDX47,non_coding_transcript_exon_variant,,ENST00000542832,;DDX47,downstream_gene_variant,,ENST00000392155,;APOLD1,3_prime_UTR_variant,,ENST00000534843,;DDX47,non_coding_transcript_exon_variant,,ENST00000426619,;DDX47,non_coding_transcript_exon_variant,,ENST00000541537,;DDX47,non_coding_transcript_exon_variant,,ENST00000544032,;DDX47,non_coding_transcript_exon_variant,,ENST00000545038,;DDX47,intron_variant,,ENST00000542123,;DDX47,upstream_gene_variant,,ENST00000535722,;	371	61	91	SUCCESS
MTA1	9112	.	GRCh37	14	105929876	105929876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	11	89	0	ENST00000331320.7:c.1064A>G	p.Tyr355Cys	p.Y355C	ENST00000331320	NM_004689.3	355	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32169.1	1064	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTATATTC	NONE	.	.	hmmpanther:PTHR10865:SF5,hmmpanther:PTHR10865	.	.	ENSP00000333633	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000331320	Transcript	.	.	ENSG00000182979	7410	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MTA1_HUMAN	MTA1	HGNC	Q86TR6_HUMAN,F8VSM3_HUMAN,F8VPC5_HUMAN	.	UPI00003669FD	SNV	MTA1,missense_variant,p.Tyr338Cys,ENST00000405646,;MTA1,missense_variant,p.Tyr355Cys,ENST00000331320,;MTA1,missense_variant,p.Tyr355Cys,ENST00000406191,;MTA1,missense_variant,p.Tyr147Cys,ENST00000434050,;MTA1,5_prime_UTR_variant,,ENST00000435036,;MTA1,5_prime_UTR_variant,,ENST00000550551,;MTA1,upstream_gene_variant,,ENST00000426567,;MTA1,downstream_gene_variant,,ENST00000498644,;RP11-521B24.5,downstream_gene_variant,,ENST00000552675,;MTA1,missense_variant,p.Tyr355Cys,ENST00000438610,;MTA1,non_coding_transcript_exon_variant,,ENST00000490198,;MTA1,non_coding_transcript_exon_variant,,ENST00000550808,;MTA1,downstream_gene_variant,,ENST00000481012,;MTA1,upstream_gene_variant,,ENST00000469140,;MTA1,downstream_gene_variant,,ENST00000424723,;MTA1,upstream_gene_variant,,ENST00000552286,;	1278	89	105	SUCCESS
TSC2	7249	.	GRCh37	16	2104355	2104355	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs137854391	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	9	72	0	ENST00000219476.3:c.396del	p.Asn133ThrfsTer49	p.N133Tfs*49	ENST00000219476	NM_000548.3	132	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS10458.1	395	INDELOCATOR|VARSCANI	not_provided	ACCCTTCCAACG	NONE	byCluster	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Gene3D:1.25.10.10,Pfam_domain:PF11864,Superfamily_domains:SSF48371	.	.	ENSP00000219476	.	5/42	.	.	.	.	.	.	.	.	rs137854391	5/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	1	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	18302728	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,frameshift_variant,p.Asn96ThrfsTer49,ENST00000439673,;TSC2,frameshift_variant,p.Asn58ThrfsTer49,ENST00000432909,;TSC2,frameshift_variant,p.Asn133ThrfsTer49,ENST00000219476,;TSC2,frameshift_variant,p.Asn133ThrfsTer49,ENST00000353929,;TSC2,frameshift_variant,p.Asn144ThrfsTer49,ENST00000568454,;TSC2,frameshift_variant,p.Asn133ThrfsTer49,ENST00000350773,;TSC2,frameshift_variant,p.Asn84ThrfsTer49,ENST00000382538,;TSC2,frameshift_variant,p.Asn133ThrfsTer49,ENST00000401874,;TSC2,upstream_gene_variant,,ENST00000467949,;TSC2,non_coding_transcript_exon_variant,,ENST00000568692,;TSC2,intron_variant,,ENST00000439117,;TSC2,downstream_gene_variant,,ENST00000461648,;	1025	72	114	SUCCESS
TSC2	7249	.	GRCh37	16	2136371	2136372	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	53	0	ENST00000219476.3:c.4840_4841del	p.Ile1614HisfsTer38	p.I1614Hfs*38	ENST00000219476	NM_000548.3	1614	ATc/c	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS10458.1	4840-4841	INDELOCATOR|VARSCANI	.	GATGACATCATGC	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000219476	.	37/42	.	.	.	.	.	.	.	.	.	37/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,frameshift_variant,p.Ile1511HisfsTer38,ENST00000439673,;TSC2,frameshift_variant,p.Ile1614HisfsTer38,ENST00000219476,;TSC2,frameshift_variant,p.Ile1558HisfsTer38,ENST00000568454,;TSC2,frameshift_variant,p.Ile342HisfsTer38,ENST00000569110,;TSC2,frameshift_variant,p.Ile1547HisfsTer38,ENST00000401874,;TSC2,frameshift_variant,p.Ile1571HisfsTer38,ENST00000353929,;TSC2,frameshift_variant,p.Ile1591HisfsTer38,ENST00000350773,;TSC2,frameshift_variant,p.Ile1499HisfsTer38,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;MIR1225,downstream_gene_variant,,ENST00000408729,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000564313,;	5470-5471	53	63	SUCCESS
ZNF205	7755	.	GRCh37	16	3170245	3170245	+	synonymous_variant	Silent	SNP	C	C	T	rs1189962591	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	46	0	ENST00000219091.4:c.1584C>T	p.Thr528=	p.T528=	ENST00000219091	NM_001042428.1	528	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10494.2	1584	MUTECT|MUSE	.	ACCACCGGGCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF46	.	.	ENSP00000371627	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000382192	Transcript	.	.	ENSG00000122386	12996	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN205_HUMAN	ZNF205	HGNC	C9JS60_HUMAN,C9JEY6_HUMAN,B2R7J8_HUMAN	.	UPI00000437F2	SNV	ZNF205,synonymous_variant,p.%3D,ENST00000382192,;ZNF205,synonymous_variant,p.%3D,ENST00000219091,;ZNF205,downstream_gene_variant,,ENST00000570935,;ZNF205,downstream_gene_variant,,ENST00000414351,;ZNF205,downstream_gene_variant,,ENST00000444510,;RP11-473M20.14,intron_variant,,ENST00000575139,;RP11-473M20.14,intron_variant,,ENST00000576490,;ZNF205-AS1,upstream_gene_variant,,ENST00000572691,;	1789	46	41	SUCCESS
NRN1L	123904	.	GRCh37	16	67919503	67919503	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	54	0	ENST00000339176.3:c.80-122T>C		p.*27*	ENST00000339176	NM_198443.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10850.1	.	MUTECT|MUSE	.	CACCCTTTTTC	NONE	.	.	.	.	.	ENSP00000342411	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339176	Transcript	.	.	ENSG00000188038	29811	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRN1L_HUMAN	NRN1L	HGNC	.	.	UPI00000359FB	SNV	NRN1L,5_prime_UTR_variant,,ENST00000576147,;NRN1L,intron_variant,,ENST00000339176,;NRN1L,intron_variant,,ENST00000576758,;EDC4,downstream_gene_variant,,ENST00000577105,;EDC4,downstream_gene_variant,,ENST00000575033,;EDC4,downstream_gene_variant,,ENST00000573985,;EDC4,downstream_gene_variant,,ENST00000358933,;CTC-479C5.10,non_coding_transcript_exon_variant,,ENST00000572067,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000572221,;EDC4,downstream_gene_variant,,ENST00000573992,;EDC4,downstream_gene_variant,,ENST00000572724,;EDC4,downstream_gene_variant,,ENST00000575514,;EDC4,downstream_gene_variant,,ENST00000575507,;	.	54	58	SUCCESS
SMARCD2	6603	.	GRCh37	17	61911595	61911595	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs895825903	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	19	99	0	ENST00000448276.2:c.1015A>G	p.Ile339Val	p.I339V	ENST00000448276	NM_001098426.1	339	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45756.1	1015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATGTAAA	NONE	.	.	hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF2,Pfam_domain:PF02201,Gene3D:1.10.245.10,SMART_domains:SM00151,Superfamily_domains:SSF47592	.	.	ENSP00000392617	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000448276	Transcript	.	.	ENSG00000108604	11107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.13)	.	SMRD2_HUMAN	SMARCD2	HGNC	J3KT18_HUMAN,J3KMX2_HUMAN	.	UPI0000D695F8	SNV	SMARCD2,missense_variant,p.Ile80Val,ENST00000450364,;SMARCD2,missense_variant,p.Ile291Val,ENST00000323347,;SMARCD2,missense_variant,p.Ile339Val,ENST00000448276,;SMARCD2,missense_variant,p.Ile264Val,ENST00000225742,;PSMC5,downstream_gene_variant,,ENST00000581882,;PSMC5,downstream_gene_variant,,ENST00000579708,;PSMC5,downstream_gene_variant,,ENST00000580864,;PSMC5,downstream_gene_variant,,ENST00000375812,;PSMC5,downstream_gene_variant,,ENST00000581842,;PSMC5,downstream_gene_variant,,ENST00000585123,;PSMC5,downstream_gene_variant,,ENST00000584320,;PSMC5,downstream_gene_variant,,ENST00000310144,;PSMC5,downstream_gene_variant,,ENST00000582130,;FTSJ3,upstream_gene_variant,,ENST00000580295,;SMARCD2,3_prime_UTR_variant,,ENST00000584400,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000584483,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000578234,;PSMC5,downstream_gene_variant,,ENST00000583283,;PSMC5,downstream_gene_variant,,ENST00000584657,;PSMC5,downstream_gene_variant,,ENST00000578570,;PSMC5,downstream_gene_variant,,ENST00000584536,;PSMC5,downstream_gene_variant,,ENST00000580063,;PSMC5,downstream_gene_variant,,ENST00000579031,;PSMC5,downstream_gene_variant,,ENST00000581764,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000581832,;PSMC5,downstream_gene_variant,,ENST00000584880,;SMARCD2,downstream_gene_variant,,ENST00000577686,;PSMC5,downstream_gene_variant,,ENST00000579147,;PSMC5,downstream_gene_variant,,ENST00000585242,;	1281	99	110	SUCCESS
RNF213	57674	.	GRCh37	17	78363961	78363961	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	20	112	0	ENST00000582970.1:c.15435A>C	p.Gln5145His	p.Q5145H	ENST00000582970	NM_001256071.1	5145	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS58606.1	15435	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAAACCCA	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	67/68	.	.	.	.	.	.	.	.	.	67/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.078)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Gln3218His,ENST00000336301,;RNF213,missense_variant,p.Gln5145His,ENST00000582970,;RNF213,missense_variant,p.Gln5194His,ENST00000508628,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000573394,;RNF213,non_coding_transcript_exon_variant,,ENST00000427003,;RNF213,non_coding_transcript_exon_variant,,ENST00000560083,;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,;RNF213,downstream_gene_variant,,ENST00000573919,;RNF213,downstream_gene_variant,,ENST00000570776,;	15578	112	143	SUCCESS
TRMT13	54482	.	GRCh37	1	100602441	100602441	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	11	115	0	ENST00000370141.2:c.151G>A	p.Glu51Lys	p.E51K	ENST00000370141	NM_019083.2	51	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS765.1	151	MUTECT|MUSE	.	AGGAAGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12998,hmmpanther:PTHR12998:SF0	.	.	ENSP00000359160	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000370141	Transcript	.	.	ENSG00000122435	25502	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.155)	.	deleterious(0.05)	.	TRM13_HUMAN	TRMT13	HGNC	.	.	UPI000013CAE6	SNV	TRMT13,missense_variant,p.Glu51Lys,ENST00000370141,;TRMT13,missense_variant,p.Glu51Lys,ENST00000370143,;TRMT13,missense_variant,p.Glu20Lys,ENST00000370139,;SASS6,upstream_gene_variant,,ENST00000535161,;SASS6,upstream_gene_variant,,ENST00000287482,;SASS6,upstream_gene_variant,,ENST00000462159,;TRMT13,missense_variant,p.Glu51Lys,ENST00000482437,;	157	115	181	SUCCESS
GNAI3	2773	.	GRCh37	1	110091289	110091289	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	108	0	ENST00000369851.4:c.-54C>T		p.*18*	ENST00000369851	NM_006496.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS802.1	.	MUTECT|MUSE|VARSCANS	.	AGCCGCAGTTT	NONE	.	.	.	.	.	ENSP00000358867	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000369851	Transcript	.	.	ENSG00000065135	4387	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GNAI3_HUMAN	GNAI3	HGNC	Q5TZX1_HUMAN,C9J2Z2_HUMAN	.	UPI000004D205	SNV	GNAI3,5_prime_UTR_variant,,ENST00000369851,;GPR61,downstream_gene_variant,,ENST00000527748,;RP5-1160K1.8,upstream_gene_variant,,ENST00000526411,;GPR61,downstream_gene_variant,,ENST00000526744,;GPR61,downstream_gene_variant,,ENST00000404129,;GPR61,downstream_gene_variant,,ENST00000469383,;	57	108	125	SUCCESS
B3GALNT2	148789	.	GRCh37	1	235617601	235617601	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140708018	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	35	192	0	ENST00000366600.3:c.1178G>A	p.Arg393Gln	p.R393Q	ENST00000366600	NM_152490.3	393	cGa/cAa	0	T:0.0009	T:0.0008	.	T:0.0115	.	T	R/Q	protein_coding	YES	CCDS1606.1	1178	RADIA|MUSE|VARSCANS	.	CGGTTCGGTCA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF79	T:0	T:0.0001	ENSP00000355559	T:0	10/12	.	.	.	.	.	.	.	.	rs140708018	10/12	PASS	ENST00000366600	Transcript	.	T:0.0018	ENSG00000162885	28596	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.863)	T:0	deleterious(0.01)	.	B3GL2_HUMAN	B3GALNT2	HGNC	.	.	UPI0000071B30	SNV	B3GALNT2,missense_variant,p.Arg393Gln,ENST00000366600,;B3GALNT2,non_coding_transcript_exon_variant,,ENST00000477694,;B3GALNT2,non_coding_transcript_exon_variant,,ENST00000462374,;	1407	192	261	SUCCESS
NCMAP	400746	.	GRCh37	1	24932145	24932145	+	synonymous_variant	Silent	SNP	C	C	T	rs373926438	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	18	118	0	ENST00000374392.2:c.216C>T	p.Thr72=	p.T72=	ENST00000374392	NM_001010980.4	72	acC/acT	0	T:0	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS30632.1	216	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACCGCCCC	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000363513	T:0	4/4	.	.	.	.	.	.	.	.	rs373926438	4/4	PASS	ENST00000374392	Transcript	.	T:0.0002	ENSG00000184454	29332	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	NCMAP_HUMAN	NCMAP	HGNC	.	.	UPI00001991A6	SNV	NCMAP,synonymous_variant,p.%3D,ENST00000374392,;NCMAP,non_coding_transcript_exon_variant,,ENST00000486262,;	282	119	149	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77334298	77334298	+	synonymous_variant	Silent	SNP	G	G	A	rs554217920	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	6	104	0	ENST00000477717.1:c.132G>A	p.Gln44=	p.Q44=	ENST00000477717	NM_030965.1	44	caG/caA	0	.	A:0	.	A:0	.	A	Q	protein_coding	YES	CCDS673.1	132	MUTECT|MUSE	.	CAGCAGCAACA	NONE	byFrequency|byCluster|by1000G	.	PIRSF_domain:PIRSF005557,Low_complexity_(Seg):seg	A:0.002	.	ENSP00000417583	A:0	2/5	.	.	.	.	.	.	.	.	rs554217920,COSM1560496	2/5	PASS	ENST00000477717	Transcript	.	A:0.0004	ENSG00000117069	19342	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,synonymous_variant,p.%3D,ENST00000477717,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000480428,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000496845,;ST6GALNAC5,synonymous_variant,p.%3D,ENST00000318803,;	367	104	126	SUCCESS
SSTR3	6753	.	GRCh37	22	37603143	37603143	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	7	112	1	ENST00000328544.3:c.700C>T	p.Arg234Cys	p.R234C	ENST00000328544	NM_001051.3	234	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13944.1	700	MUTECT|MUSE	.	TGAGCGCACCT	NONE	.	.	Prints_domain:PR00246,Prints_domain:PR00589,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24229:SF36,hmmpanther:PTHR24229,PROSITE_profiles:PS50262	.	.	ENSP00000330138	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328544	Transcript	.	.	ENSG00000183473	11332	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SSR3_HUMAN	SSTR3	HGNC	Q86YF2_HUMAN	.	UPI0000050435	SNV	SSTR3,missense_variant,p.Arg234Cys,ENST00000328544,;SSTR3,missense_variant,p.Arg234Cys,ENST00000402501,;	1234	113	136	SUCCESS
NDUFB3	4709	.	GRCh37	2	201943675	201943675	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	22	198	0	ENST00000237889.4:c.70A>G	p.Ile24Val	p.I24V	ENST00000237889	NM_002491.2	24	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2336.1	70	MUTECT|MUSE|VARSCANS	.	GGAAGATAGAA	NONE	.	.	hmmpanther:PTHR15082:SF2,hmmpanther:PTHR15082	.	.	ENSP00000237889	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000237889	Transcript	.	.	ENSG00000119013	7698	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.84)	.	NDUB3_HUMAN	NDUFB3	HGNC	C9JKQ2_HUMAN	.	UPI000013CA29	SNV	NDUFB3,missense_variant,p.Ile24Val,ENST00000450023,;NDUFB3,missense_variant,p.Ile24Val,ENST00000237889,;NDUFB3,missense_variant,p.Ile24Val,ENST00000454214,;NDUFB3,missense_variant,p.Ile24Val,ENST00000433898,;RNU6-1206P,upstream_gene_variant,,ENST00000516339,;	393	198	261	SUCCESS
ATAD2B	54454	.	GRCh37	2	24149803	24149803	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs556061673	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	57	0	ENST00000238789.5:c.-163C>A		p.*55*	ENST00000238789	NM_001242338.1			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS46227.1	.	MUTECT|MUSE	.	GCAGAGGAAGG	NONE	by1000G	.	.	A:0	.	ENSP00000238789	A:0	1/28	.	.	.	.	.	.	.	.	rs556061673	1/28	PASS	ENST00000238789	Transcript	.	A:0.0002	ENSG00000119778	29230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,5_prime_UTR_variant,,ENST00000439915,;ATAD2B,5_prime_UTR_variant,,ENST00000238789,;UBXN2A,upstream_gene_variant,,ENST00000404924,;UBXN2A,upstream_gene_variant,,ENST00000446425,;	182	57	49	SUCCESS
FSHR	2492	.	GRCh37	2	49295430	49295430	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	.	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	46	0	ENST00000406846.2:c.153-1G>A		p.X51_splice	ENST00000406846	NM_000145.3	51		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1843.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCTGCAA	NONE	.	.	.	.	.	ENSP00000384708	.	.	.	.	.	.	.	.	.	.	COSM395983	.	PASS	ENST00000406846	Transcript	.	.	ENSG00000170820	3969	.	.	HIGH	1/9	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FSHR_HUMAN	FSHR	HGNC	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN	.	UPI000013E97A	SNV	FSHR,splice_acceptor_variant,,ENST00000346173,;FSHR,splice_acceptor_variant,,ENST00000454032,;FSHR,splice_acceptor_variant,,ENST00000304421,;FSHR,splice_acceptor_variant,,ENST00000406846,;FSHR,splice_acceptor_variant,,ENST00000419927,;	.	46	68	SUCCESS
HK2	3099	.	GRCh37	2	75109363	75109363	+	synonymous_variant	Silent	SNP	C	C	T	rs200225889	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	12	94	0	ENST00000290573.2:c.1836C>T	p.Asp612=	p.D612=	ENST00000290573	NM_000189.4	612	gaC/gaT	0	T:0	.	.	.	.	T	D	protein_coding	YES	CCDS1956.1	1836	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACGAGGT	NONE	byCluster	.	hmmpanther:PTHR19443:SF4,hmmpanther:PTHR19443,PROSITE_patterns:PS00378,Pfam_domain:PF00349,Gene3D:3.30.420.40,Superfamily_domains:SSF53067,Prints_domain:PR00475	.	T:0.0001	ENSP00000290573	.	12/18	.	.	.	.	.	.	.	.	rs200225889,COSM1023107	12/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,synonymous_variant,p.%3D,ENST00000409174,;HK2,synonymous_variant,p.%3D,ENST00000290573,;	2436	94	117	SUCCESS
ABCF3	55324	.	GRCh37	3	183903945	183903945	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	41	0	ENST00000429586.2:c.-51G>C		p.*17*	ENST00000429586	NM_018358.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3254.1	.	MUTECT|MUSE|VARSCANS	.	GGCGGGCCTAG	NONE	.	.	.	.	.	ENSP00000411471	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000429586	Transcript	.	.	ENSG00000161204	72	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCF3_HUMAN	ABCF3	HGNC	.	.	UPI000007270D	SNV	ABCF3,5_prime_UTR_variant,,ENST00000429586,;EIF2B5,intron_variant,,ENST00000444495,;AP2M1,downstream_gene_variant,,ENST00000411763,;AP2M1,downstream_gene_variant,,ENST00000442686,;AP2M1,downstream_gene_variant,,ENST00000292807,;ABCF3,upstream_gene_variant,,ENST00000292808,;AP2M1,downstream_gene_variant,,ENST00000382456,;AP2M1,downstream_gene_variant,,ENST00000432591,;AP2M1,downstream_gene_variant,,ENST00000439647,;AP2M1,downstream_gene_variant,,ENST00000461733,;ABCF3,5_prime_UTR_variant,,ENST00000421340,;ABCF3,non_coding_transcript_exon_variant,,ENST00000485921,;ABCF3,upstream_gene_variant,,ENST00000473311,;ABCF3,upstream_gene_variant,,ENST00000481116,;ABCF3,upstream_gene_variant,,ENST00000480562,;ABCF3,upstream_gene_variant,,ENST00000466416,;AP2M1,downstream_gene_variant,,ENST00000490151,;ABCF3,upstream_gene_variant,,ENST00000478288,;AP2M1,downstream_gene_variant,,ENST00000468048,;ABCF3,upstream_gene_variant,,ENST00000468892,;ABCF3,upstream_gene_variant,,ENST00000463685,;ABCF3,upstream_gene_variant,,ENST00000472608,;ABCF3,upstream_gene_variant,,ENST00000475728,;ABCF3,upstream_gene_variant,,ENST00000498136,;AP2M1,downstream_gene_variant,,ENST00000472560,;AP2M1,downstream_gene_variant,,ENST00000476434,;ABCF3,upstream_gene_variant,,ENST00000489719,;ABCF3,upstream_gene_variant,,ENST00000471226,;AP2M1,downstream_gene_variant,,ENST00000463935,;AP2M1,downstream_gene_variant,,ENST00000480260,;ABCF3,upstream_gene_variant,,ENST00000466742,;	135	41	77	SUCCESS
SEL1L3	23231	.	GRCh37	4	25849364	25849364	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371579636	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	29	139	0	ENST00000399878.3:c.285C>A	p.Asn95Lys	p.N95K	ENST00000399878	NM_015187.3	95	aaC/aaA	0	A:0	.	.	.	.	T	N/K	protein_coding	YES	CCDS47037.1	285	RADIA|MUTECT|MUSE|VARSCANS	.	GAAACGTTGCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11102:SF58,hmmpanther:PTHR11102	.	A:0.0001	ENSP00000382767	.	2/24	.	.	.	.	.	.	.	.	rs371579636	2/24	PASS	ENST00000399878	Transcript	.	.	ENSG00000091490	29108	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SE1L3_HUMAN	SEL1L3	HGNC	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN	.	UPI00001D7736	SNV	SEL1L3,missense_variant,p.Asn95Lys,ENST00000399878,;SEL1L3,missense_variant,p.Asn60Lys,ENST00000264868,;SEL1L3,5_prime_UTR_variant,,ENST00000502949,;SEL1L3,5_prime_UTR_variant,,ENST00000510880,;SEL1L3,5_prime_UTR_variant,,ENST00000514872,;SEL1L3,5_prime_UTR_variant,,ENST00000513691,;SEL1L3,intron_variant,,ENST00000513364,;	408	139	170	SUCCESS
GZMA	3001	.	GRCh37	5	54404222	54404222	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	rs1469343517	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	18	103	0	ENST00000274306.6:c.627T>C		p.X209_splice	ENST00000274306	NM_006144.3	209	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS3965.1	627	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAATGTAAG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF48,PROSITE_patterns:PS00135,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000274306	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000274306	Transcript	.	.	ENSG00000145649	4708	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRAA_HUMAN	GZMA	HGNC	.	.	UPI000013D9FC	SNV	GZMA,synonymous_variant,p.%3D,ENST00000274306,;CDC20B,downstream_gene_variant,,ENST00000296733,;CDC20B,downstream_gene_variant,,ENST00000334206,;CDC20B,downstream_gene_variant,,ENST00000381375,;	662	103	136	SUCCESS
C6orf62	81688	.	GRCh37	6	24718778	24718778	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	15	102	0	ENST00000378119.4:c.119T>G	p.Phe40Cys	p.F40C	ENST00000378119	NM_030939.4	40	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS4559.1	119	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGAATACA	NONE	.	.	Pfam_domain:PF15130	.	.	ENSP00000367359	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000378119	Transcript	.	.	ENSG00000112308	20998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.847)	.	deleterious(0)	.	CF062_HUMAN	C6orf62	HGNC	B4DWX7_HUMAN	.	UPI000000DC64	SNV	C6orf62,missense_variant,p.Phe40Cys,ENST00000378119,;C6orf62,intron_variant,,ENST00000378102,;C6orf62,intron_variant,,ENST00000540769,;	2287	102	119	SUCCESS
C6orf89	221477	.	GRCh37	6	36853754	36853754	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	37	0	ENST00000373685.1:c.-161G>A		p.*54*	ENST00000373685				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4827.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGCGGCA	NONE	.	.	.	.	.	ENSP00000347322	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000355190	Transcript	.	.	ENSG00000198663	21114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CF089_HUMAN	C6orf89	HGNC	Q5TDC5_HUMAN	.	UPI000035E870	SNV	C6orf89,5_prime_UTR_variant,,ENST00000373685,;C6orf89,5_prime_UTR_variant,,ENST00000355190,;C6orf89,5_prime_UTR_variant,,ENST00000480824,;C6orf89,intron_variant,,ENST00000510325,;C6orf89,intron_variant,,ENST00000359359,;	115	37	58	SUCCESS
KHDC3L	154288	.	GRCh37	6	74072815	74072815	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	90	0	ENST00000370367.3:c.170-3C>A		p.X57_splice	ENST00000370367	NM_001017361.2	57		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34484.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGCAGGCC	NONE	.	.	.	.	.	ENSP00000359392	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370367	Transcript	.	.	ENSG00000203908	33699	.	.	LOW	1/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KHD3L_HUMAN	KHDC3L	HGNC	.	.	UPI00001D8131	SNV	KHDC3L,splice_region_variant,,ENST00000370367,;	.	90	73	SUCCESS
FANCB	2187	.	GRCh37	X	14862009	14862009	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	27	0	ENST00000324138.3:c.2260T>A	p.Phe754Ile	p.F754I	ENST00000324138	NM_152633.2	754	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS14161.1	2260	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGAAATTCT	NONE	.	.	.	.	.	ENSP00000381378	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000398334	Transcript	.	.	ENSG00000181544	3583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.27)	.	FANCB_HUMAN	FANCB	HGNC	C9J5X9_HUMAN	.	UPI000006E70A	SNV	FANCB,missense_variant,p.Phe754Ile,ENST00000324138,;FANCB,missense_variant,p.Phe754Ile,ENST00000398334,;FANCB,missense_variant,p.Phe754Ile,ENST00000452869,;	2528	27	42	SUCCESS
FGF8	2253	.	GRCh37	10	103535640	103535640	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	39	184	0	ENST00000344255.3:c.18C>T	p.Ser6=	p.S6=	ENST00000344255		6	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS7516.1	18	MUTECT|MUSE|VARSCANS	.	AGCGCGGAGCG	NONE	.	.	hmmpanther:PTHR11486:SF3,hmmpanther:PTHR11486,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000321797	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000320185	Transcript	1	.	ENSG00000107831	3686	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FGF8_HUMAN	FGF8	HGNC	.	.	UPI000002A991	SNV	FGF8,synonymous_variant,p.%3D,ENST00000344255,;FGF8,synonymous_variant,p.%3D,ENST00000346714,;FGF8,synonymous_variant,p.%3D,ENST00000347978,;FGF8,synonymous_variant,p.%3D,ENST00000320185,;FGF8,non_coding_transcript_exon_variant,,ENST00000485728,;FGF8,synonymous_variant,p.%3D,ENST00000469792,;	77	184	200	SUCCESS
FANK1	92565	.	GRCh37	10	127685132	127685132	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	35	80	0	ENST00000368693.1:c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000368693		138	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS31309.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTGATGTT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24183,hmmpanther:PTHR24183:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000357682	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000368693	Transcript	.	.	ENSG00000203780	23527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FANK1_HUMAN	FANK1	HGNC	C9JD80_HUMAN,A6NH44_HUMAN	.	UPI000046FFD6	SNV	FANK1,missense_variant,p.Asp132Tyr,ENST00000368695,;FANK1,missense_variant,p.Asp33Tyr,ENST00000456942,;FANK1,missense_variant,p.Asp138Tyr,ENST00000368693,;FANK1,missense_variant,p.Asp138Tyr,ENST00000368691,;FANK1,downstream_gene_variant,,ENST00000417114,;FANK1,downstream_gene_variant,,ENST00000445510,;FANK1,downstream_gene_variant,,ENST00000368689,;FANK1,non_coding_transcript_exon_variant,,ENST00000492670,;FANK1,non_coding_transcript_exon_variant,,ENST00000464130,;	516	80	54	SUCCESS
SUV39H2	79723	.	GRCh37	10	14923615	14923615	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	39	99	0	ENST00000354919.6:c.148G>T	p.Glu50Ter	p.E50*	ENST00000354919	NM_001193424.1	50	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS53494.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGAATAC	NONE	.	.	PROSITE_profiles:PS51579,PROSITE_profiles:PS50013,hmmpanther:PTHR22884:SF284,hmmpanther:PTHR22884,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,PIRSF_domain:PIRSF009343,Superfamily_domains:SSF54160	.	.	ENSP00000346997	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000354919	Transcript	.	.	ENSG00000152455	17287	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUV92_HUMAN	SUV39H2	HGNC	C9JMB4_HUMAN,C9IYH9_HUMAN	.	UPI0000136177	SNV	SUV39H2,stop_gained,p.Glu40Ter,ENST00000358298,;SUV39H2,stop_gained,p.Glu50Ter,ENST00000378325,;SUV39H2,stop_gained,p.Glu50Ter,ENST00000354919,;SUV39H2,5_prime_UTR_variant,,ENST00000433779,;SUV39H2,5_prime_UTR_variant,,ENST00000412254,;SUV39H2,intron_variant,,ENST00000420416,;SUV39H2,intron_variant,,ENST00000313519,;RP11-398C13.6,upstream_gene_variant,,ENST00000609399,;SUV39H2,intron_variant,,ENST00000378331,;	148	99	119	SUCCESS
PCDH15	65217	.	GRCh37	10	55955617	55955617	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	86	0	ENST00000320301.6:c.1131C>T	p.Ala377=	p.A377=	ENST00000320301	NM_033056.3	377	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44404.1	1131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGGCAGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000373955,;PCDH15,synonymous_variant,p.%3D,ENST00000373957,;PCDH15,synonymous_variant,p.%3D,ENST00000395440,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395438,;PCDH15,synonymous_variant,p.%3D,ENST00000395446,;PCDH15,synonymous_variant,p.%3D,ENST00000414778,;PCDH15,synonymous_variant,p.%3D,ENST00000373965,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,5_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,synonymous_variant,p.%3D,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	1526	86	98	SUCCESS
SLC16A9	220963	.	GRCh37	10	61413702	61413702	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1332626064	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	58	0	ENST00000395347.1:c.1082G>A	p.Gly361Glu	p.G361E	ENST00000395347		361	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS7256.1	1082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCCCTAAA	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix	.	.	ENSP00000378757	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000395348	Transcript	.	.	ENSG00000165449	23520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MOT9_HUMAN	SLC16A9	HGNC	.	.	UPI000004D33D	SNV	SLC16A9,missense_variant,p.Gly361Glu,ENST00000395347,;SLC16A9,missense_variant,p.Gly361Glu,ENST00000395348,;	1719	58	72	SUCCESS
TET1	80312	.	GRCh37	10	70406241	70406241	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	77	133	0	ENST00000373644.4:c.3755A>T	p.Glu1252Val	p.E1252V	ENST00000373644	NM_030625.2	1252	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7281.1	3755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAGGAAA	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2	.	.	ENSP00000362748	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0)	.	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Glu1252Val,ENST00000373644,;	3964	133	166	SUCCESS
OPALIN	93377	.	GRCh37	10	98105735	98105735	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770990264	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	35	0	ENST00000371172.3:c.389G>C	p.Gly130Ala	p.G130A	ENST00000371172	NM_033207.3	130	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS7448.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATCCCCTC	NONE	byFrequency	.	hmmpanther:PTHR21102	.	.	ENSP00000360214	.	6/6	.	.	.	.	.	.	.	.	rs770990264	6/6	PASS	ENST00000371172	Transcript	.	.	ENSG00000197430	20707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated_low_confidence(0.1)	.	OPALI_HUMAN	OPALIN	HGNC	.	.	UPI0000137063	SNV	OPALIN,missense_variant,p.Gly130Ala,ENST00000371172,;OPALIN,missense_variant,p.Gly107Ala,ENST00000393871,;OPALIN,missense_variant,p.Gly120Ala,ENST00000419479,;OPALIN,missense_variant,p.Gly120Ala,ENST00000536387,;OPALIN,missense_variant,p.Gly119Ala,ENST00000393870,;	795	35	77	SUCCESS
MMP3	4314	.	GRCh37	11	102713577	102713577	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1487605173	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	59	1	ENST00000299855.5:c.176C>T	p.Pro59Leu	p.P59L	ENST00000299855	NM_002422.3	59	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8323.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGGACCA	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF38,Pfam_domain:PF01471,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000299855	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000299855	Transcript	.	.	ENSG00000149968	7173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.72)	.	MMP3_HUMAN	MMP3	HGNC	.	.	UPI00000422BF	SNV	MMP3,missense_variant,p.Pro59Leu,ENST00000299855,;MMP3,upstream_gene_variant,,ENST00000434103,;MMP3,3_prime_UTR_variant,,ENST00000524478,;	433	60	80	SUCCESS
CHEK1	1111	.	GRCh37	11	125513708	125513708	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	51	0	ENST00000428830.2:c.836C>T	p.Thr279Ile	p.T279I	ENST00000428830	NM_001114121.2	279	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8459.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCACTTCAG	NONE	.	.	hmmpanther:PTHR24344	.	.	ENSP00000435371	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000534070	Transcript	.	.	ENSG00000149554	1925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	CHK1_HUMAN	CHEK1	HGNC	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN	.	UPI000013DBA3	SNV	CHEK1,missense_variant,p.Thr279Ile,ENST00000438015,;CHEK1,missense_variant,p.Thr279Ile,ENST00000544373,;CHEK1,missense_variant,p.Thr279Ile,ENST00000278916,;CHEK1,missense_variant,p.Thr295Ile,ENST00000427383,;CHEK1,missense_variant,p.Thr279Ile,ENST00000534070,;CHEK1,missense_variant,p.Thr279Ile,ENST00000428830,;CHEK1,missense_variant,p.Thr279Ile,ENST00000524737,;CHEK1,non_coding_transcript_exon_variant,,ENST00000532449,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528761,;CHEK1,upstream_gene_variant,,ENST00000498122,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528276,;	1091	51	43	SUCCESS
KIRREL3	84623	.	GRCh37	11	126299104	126299104	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	80	0	ENST00000525144.2:c.1776T>C	p.Gly592=	p.G592=	ENST00000525144	NM_032531.3	592	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS53723.1	1776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCACCCTC	NONE	.	.	hmmpanther:PTHR11640:SF49,hmmpanther:PTHR11640	.	.	ENSP00000435466	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000525144	Transcript	.	.	ENSG00000149571	23204	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIRR3_HUMAN	KIRREL3	HGNC	B4DT91_HUMAN	.	UPI00000740A0	SNV	KIRREL3,synonymous_variant,p.%3D,ENST00000529097,;KIRREL3,synonymous_variant,p.%3D,ENST00000525144,;KIRREL3,synonymous_variant,p.%3D,ENST00000416561,;KIRREL3,downstream_gene_variant,,ENST00000525704,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000526519,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000532647,;ST3GAL4,intron_variant,,ENST00000524834,;	2026	80	99	SUCCESS
OR4C11	219429	.	GRCh37	11	55371788	55371788	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs113364923	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	20	43	1	ENST00000302231.4:c.62G>A	p.Arg21Lys	p.R21K	ENST00000302231	NM_001004700.2	21	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS31503.1	62	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTGCCTCAAG	NONE	byCluster	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000306651	.	1/1	.	.	.	.	.	.	.	.	rs113364923	1/1	PASS	ENST00000302231	Transcript	.	.	ENSG00000172188	15167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	OR4CB_HUMAN	OR4C11	HGNC	.	.	UPI000013E7AD	SNV	OR4C11,missense_variant,p.Arg21Lys,ENST00000302231,;	87	44	25	SUCCESS
OR5D14	219436	.	GRCh37	11	55563231	55563231	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	47	0	ENST00000335605.1:c.200A>G	p.His67Arg	p.H67R	ENST00000335605	NM_001004735.1	67	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS31508.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCACCTCT	BUFFER|p.F64F|c.192C>T|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	COSM4033681	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.172)	.	deleterious(0.02)	1	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.His67Arg,ENST00000335605,;	200	47	67	SUCCESS
OR5D14	219436	.	GRCh37	11	55563576	55563576	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	82	0	ENST00000335605.1:c.545A>G	p.Glu182Gly	p.E182G	ENST00000335605	NM_001004735.1	182	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31508.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGAGTATA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	deleterious(0.01)	.	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.Glu182Gly,ENST00000335605,;	545	82	77	SUCCESS
OR5W2	390148	.	GRCh37	11	55681236	55681236	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	44	177	0	ENST00000344514.1:c.823T>A	p.Ser275Thr	p.S275T	ENST00000344514	NM_001001960.1	275	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS31513.1	823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGAGGTCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF58,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342448	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344514	Transcript	.	.	ENSG00000187612	15299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	OR5W2_HUMAN	OR5W2	HGNC	.	.	UPI0000061E8D	SNV	OR5W2,missense_variant,p.Ser275Thr,ENST00000344514,;	823	177	194	SUCCESS
OR8J3	81168	.	GRCh37	11	55904552	55904552	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	51	1	ENST00000301529.1:c.643C>A	p.Leu215Ile	p.L215I	ENST00000301529	NM_001004064.1	215	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS31520.1	643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTAGAACTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000301529	.	1/1	.	.	.	.	.	.	.	.	COSM351941	1/1	PASS	ENST00000301529	Transcript	.	.	ENSG00000167822	15312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.042)	.	tolerated(0.09)	1	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,missense_variant,p.Leu215Ile,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	643	52	42	SUCCESS
OR5B17	219965	.	GRCh37	11	58126287	58126287	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	27	108	0	ENST00000357377.3:c.256G>T	p.Glu86Ter	p.E86*	ENST00000357377	NM_001005489.1	86	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS31548.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCTATAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,PROSITE_profiles:PS50262	.	.	ENSP00000349945	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357377	Transcript	.	.	ENSG00000197786	15267	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5BH_HUMAN	OR5B17	HGNC	.	.	UPI0000041DFA	SNV	OR5B17,stop_gained,p.Glu86Ter,ENST00000357377,;AP000435.3,upstream_gene_variant,,ENST00000528539,;	256	108	114	SUCCESS
SLC22A25	387601	.	GRCh37	11	62984853	62984853	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	93	0	ENST00000306494.6:c.763A>G	p.Ile255Val	p.I255V	ENST00000306494	NM_199352.3	255	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31592.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAATGACAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000307443	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000306494	Transcript	.	.	ENSG00000196600	32935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	tolerated(0.42)	.	S22AP_HUMAN	SLC22A25	HGNC	.	.	UPI00001A72A5	SNV	SLC22A25,missense_variant,p.Ile89Val,ENST00000403374,;SLC22A25,missense_variant,p.Ile255Val,ENST00000306494,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A25,missense_variant,p.Ile254Val,ENST00000527057,;SLC22A25,3_prime_UTR_variant,,ENST00000528239,;SLC22A25,intron_variant,,ENST00000525295,;	763	93	112	SUCCESS
FAU	2197	.	GRCh37	11	64888309	64888309	+	intron_variant	Intron	SNP	T	T	A	rs747617822	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	32	56	0	ENST00000527548.1:c.277-31A>T		p.*93*	ENST00000527548				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8095.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTTCCTG	NONE	.	.	.	.	.	ENSP00000435370	.	.	.	.	.	.	.	.	.	.	rs747617822	.	PASS	ENST00000529639	Transcript	.	.	ENSG00000149806	3597	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBIM_HUMAN,RS30_HUMAN	FAU	HGNC	E9PM49_HUMAN	.	UPI000006EA56	SNV	FAU,3_prime_UTR_variant,,ENST00000529259,;FAU,intron_variant,,ENST00000279259,;FAU,intron_variant,,ENST00000525297,;FAU,intron_variant,,ENST00000526555,;FAU,intron_variant,,ENST00000529639,;FAU,intron_variant,,ENST00000527548,;FAU,intron_variant,,ENST00000531743,;MRPL49,upstream_gene_variant,,ENST00000534078,;TM7SF2,downstream_gene_variant,,ENST00000279263,;ZNHIT2,upstream_gene_variant,,ENST00000310597,;MRPL49,upstream_gene_variant,,ENST00000526171,;FAU,downstream_gene_variant,,ENST00000434372,;TM7SF2,downstream_gene_variant,,ENST00000527968,;TM7SF2,downstream_gene_variant,,ENST00000345348,;MRPL49,upstream_gene_variant,,ENST00000279242,;MRPL49,upstream_gene_variant,,ENST00000533943,;ZNHIT2,upstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000540748,;MRPL49,upstream_gene_variant,,ENST00000531705,;TM7SF2,downstream_gene_variant,,ENST00000528802,;AP003068.12,downstream_gene_variant,,ENST00000527789,;MRPL49,upstream_gene_variant,,ENST00000524482,;MRPL49,upstream_gene_variant,,ENST00000528529,;FAU,non_coding_transcript_exon_variant,,ENST00000531357,;TM7SF2,downstream_gene_variant,,ENST00000529601,;TM7SF2,downstream_gene_variant,,ENST00000530650,;TM7SF2,downstream_gene_variant,,ENST00000529292,;TM7SF2,downstream_gene_variant,,ENST00000526048,;MRPL49,upstream_gene_variant,,ENST00000526319,;MRPL49,upstream_gene_variant,,ENST00000532671,;SYVN1,downstream_gene_variant,,ENST00000530451,;	.	56	61	SUCCESS
TENM4	26011	.	GRCh37	11	78369713	78369713	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770955010	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	38	64	0	ENST00000278550.7:c.7700G>A	p.Gly2567Asp	p.G2567D	ENST00000278550	NM_001098816.2	2567	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS44688.1	7700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCCAAAG	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	34/34	.	.	.	.	.	.	.	.	rs770955010	34/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Gly2567Asp,ENST00000278550,;TENM4,intron_variant,,ENST00000530738,;	8163	64	79	SUCCESS
GPR83	10888	.	GRCh37	11	94113805	94113805	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139287789	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	74	0	ENST00000243673.2:c.782G>A	p.Arg261His	p.R261H	ENST00000243673	NM_016540.3	261	cGt/cAt	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS8297.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACGAGCG	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF174,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0.0001	ENSP00000243673	.	4/4	.	.	.	.	.	.	.	.	rs139287789	4/4	PASS	ENST00000243673	Transcript	.	.	ENSG00000123901	4523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.75)	.	GPR83_HUMAN	GPR83	HGNC	Q9H011_HUMAN	.	UPI000013CB3F	SNV	GPR83,missense_variant,p.Arg219His,ENST00000539203,;GPR83,missense_variant,p.Arg261His,ENST00000243673,;	954	74	94	SUCCESS
MTMR2	8898	.	GRCh37	11	95595469	95595469	+	synonymous_variant	Silent	SNP	C	C	A	rs753769457	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	72	0	ENST00000346299.5:c.324G>T	p.Thr108=	p.T108=	ENST00000346299	NM_016156.5	108	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8305.1	324	RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCGTGAC	NONE	.	.	hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF40,Gene3D:2.30.29.30,Pfam_domain:PF02893,SMART_domains:SM00568,Superfamily_domains:SSF50729	.	.	ENSP00000345752	.	4/15	.	.	.	.	.	.	.	.	rs753769457,CD013478,IPNMDB_503	4/15	PASS	ENST00000346299	Transcript	.	.	ENSG00000087053	7450	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,0	.	.	.	.	.	.	MTMR2_HUMAN	MTMR2	HGNC	C9JEX3_HUMAN	.	UPI00001AF36F	SNV	MTMR2,synonymous_variant,p.%3D,ENST00000444541,;MTMR2,synonymous_variant,p.%3D,ENST00000346299,;MTMR2,synonymous_variant,p.%3D,ENST00000393223,;MTMR2,synonymous_variant,p.%3D,ENST00000352297,;MTMR2,synonymous_variant,p.%3D,ENST00000409459,;MTMR2,non_coding_transcript_exon_variant,,ENST00000484818,;MTMR2,non_coding_transcript_exon_variant,,ENST00000495134,;MTMR2,non_coding_transcript_exon_variant,,ENST00000485740,;MTMR2,non_coding_transcript_exon_variant,,ENST00000497683,;MTMR2,non_coding_transcript_exon_variant,,ENST00000472423,;MTMR2,downstream_gene_variant,,ENST00000470293,;MTMR2,downstream_gene_variant,,ENST00000481642,;	665	72	56	SUCCESS
HSP90B1	7184	.	GRCh37	12	104340420	104340420	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	71	2	ENST00000299767.5:c.2052A>T	p.Thr684=	p.T684=	ENST00000299767	NM_003299.2	684	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9094.1	2052	SOMATICSNIPER|VARSCANS	.	AAAACATTTGA	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF44,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:0043579	.	.	ENSP00000299767	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000299767	Transcript	.	.	ENSG00000166598	12028	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ENPL_HUMAN	HSP90B1	HGNC	Q5CAQ5_HUMAN,F8W026_HUMAN,B4DHT9_HUMAN	.	UPI0000129FBA	SNV	HSP90B1,synonymous_variant,p.%3D,ENST00000550595,;HSP90B1,synonymous_variant,p.%3D,ENST00000299767,;C12orf73,downstream_gene_variant,,ENST00000553183,;C12orf73,downstream_gene_variant,,ENST00000549478,;C12orf73,downstream_gene_variant,,ENST00000547945,;C12orf73,downstream_gene_variant,,ENST00000547975,;C12orf73,downstream_gene_variant,,ENST00000552940,;C12orf73,downstream_gene_variant,,ENST00000378090,;C12orf73,downstream_gene_variant,,ENST00000543740,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000548462,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000552051,;C12orf73,downstream_gene_variant,,ENST00000552460,;C12orf73,downstream_gene_variant,,ENST00000549960,;HSP90B1,downstream_gene_variant,,ENST00000550479,;HSP90B1,downstream_gene_variant,,ENST00000551983,;	2234	73	83	SUCCESS
APPL2	55198	.	GRCh37	12	105591692	105591692	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	56	132	0	ENST00000258530.3:c.903T>C	p.Tyr301=	p.Y301=	ENST00000258530	NM_001251904.1	301	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS58276.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAATAAAG	NONE	.	.	Superfamily_domains:SSF50729,Superfamily_domains:SSF103657,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF207,PROSITE_profiles:PS50003	.	.	ENSP00000446917	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000551662	Transcript	.	.	ENSG00000136044	18242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DP13B_HUMAN	APPL2	HGNC	F8W124_HUMAN	.	UPI00020CE3BC	SNV	APPL2,synonymous_variant,p.%3D,ENST00000539978,;APPL2,synonymous_variant,p.%3D,ENST00000258530,;APPL2,synonymous_variant,p.%3D,ENST00000551662,;APPL2,intron_variant,,ENST00000549573,;APPL2,upstream_gene_variant,,ENST00000552945,;APPL2,3_prime_UTR_variant,,ENST00000547439,;APPL2,non_coding_transcript_exon_variant,,ENST00000547809,;APPL2,downstream_gene_variant,,ENST00000549974,;	992	132	152	SUCCESS
WSCD2	9671	.	GRCh37	12	108589481	108589481	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	32	0	ENST00000332082.4:c.-129T>A		p.*43*	ENST00000332082				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41828.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTTCAGGA	NONE	.	.	.	.	.	ENSP00000331933	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000332082	Transcript	.	.	ENSG00000075035	29117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WSCD2_HUMAN	WSCD2	HGNC	F8W030_HUMAN	.	UPI00001C1F3A	SNV	WSCD2,5_prime_UTR_variant,,ENST00000332082,;WSCD2,5_prime_UTR_variant,,ENST00000547525,;WSCD2,5_prime_UTR_variant,,ENST00000261400,;WSCD2,intron_variant,,ENST00000551638,;WSCD2,upstream_gene_variant,,ENST00000549903,;WSCD2,downstream_gene_variant,,ENST00000551106,;WSCD2,downstream_gene_variant,,ENST00000550529,;WSCD2,downstream_gene_variant,,ENST00000546811,;WSCD2,downstream_gene_variant,,ENST00000551057,;WSCD2,downstream_gene_variant,,ENST00000552195,;WSCD2,downstream_gene_variant,,ENST00000551734,;WSCD2,downstream_gene_variant,,ENST00000546401,;WSCD2,upstream_gene_variant,,ENST00000547185,;	690	32	29	SUCCESS
TSPAN9	10867	.	GRCh37	12	3390913	3390913	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	80	0	ENST00000011898.5:c.578A>C	p.Lys193Thr	p.K193T	ENST00000011898	NM_006675.4	193	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS8520.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAAGGTGA	NONE	.	.	Superfamily_domains:0037997,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF41	.	.	ENSP00000011898	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000011898	Transcript	.	.	ENSG00000011105	21640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	tolerated(0.25)	.	TSN9_HUMAN	TSPAN9	HGNC	.	.	UPI000004F1F1	SNV	TSPAN9,missense_variant,p.Lys193Thr,ENST00000407263,;TSPAN9,missense_variant,p.Lys193Thr,ENST00000011898,;TSPAN9,missense_variant,p.Lys193Thr,ENST00000537971,;TSPAN9,downstream_gene_variant,,ENST00000431374,;TSPAN9,downstream_gene_variant,,ENST00000492305,;TSPAN9,downstream_gene_variant,,ENST00000444315,;	739	80	98	SUCCESS
SP1	6667	.	GRCh37	12	53803328	53803328	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	36	135	1	ENST00000327443.4:c.2027A>T	p.His676Leu	p.H676L	ENST00000327443	NM_138473.2	676	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS8857.1	2027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCACAAAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23235:SF4,hmmpanther:PTHR23235,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000329357	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000327443	Transcript	.	.	ENSG00000185591	11205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	SP1_HUMAN	SP1	HGNC	G5E9M8_HUMAN,Q9NR52_HUMAN,H3BVI2_HUMAN,C4PGM0_HUMAN	.	UPI0000135D4E	SNV	SP1,missense_variant,p.His669Leu,ENST00000426431,;SP1,missense_variant,p.His676Leu,ENST00000327443,;	2125	136	154	SUCCESS
CALCOCO1	57658	.	GRCh37	12	54106023	54106023	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	39	0	ENST00000550804.1:c.1899-118G>T		p.*633*	ENST00000550804				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8864.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGCAGCAT	NONE	.	.	.	.	.	ENSP00000449960	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000550804	Transcript	.	.	ENSG00000012822	29306	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CACO1_HUMAN	CALCOCO1	HGNC	F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN	.	UPI0000037D7A	SNV	CALCOCO1,3_prime_UTR_variant,,ENST00000548263,;CALCOCO1,intron_variant,,ENST00000262059,;CALCOCO1,intron_variant,,ENST00000430117,;CALCOCO1,intron_variant,,ENST00000546443,;CALCOCO1,intron_variant,,ENST00000550804,;CALCOCO1,downstream_gene_variant,,ENST00000549935,;CALCOCO1,downstream_gene_variant,,ENST00000552282,;CALCOCO1,downstream_gene_variant,,ENST00000549613,;	.	39	40	SUCCESS
MON2	23041	.	GRCh37	12	62954725	62954725	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	50	97	1	ENST00000393630.3:c.3867A>G	p.Lys1289=	p.K1289=	ENST00000393630		1289	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS31849.1	3864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAAACTGG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371	.	.	ENSP00000377252	.	26/35	.	.	.	.	.	.	.	.	.	26/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,synonymous_variant,p.%3D,ENST00000546600,;MON2,synonymous_variant,p.%3D,ENST00000393630,;MON2,synonymous_variant,p.%3D,ENST00000280379,;MON2,synonymous_variant,p.%3D,ENST00000393629,;MON2,synonymous_variant,p.%3D,ENST00000393632,;MON2,synonymous_variant,p.%3D,ENST00000552738,;MON2,3_prime_UTR_variant,,ENST00000547095,;MON2,non_coding_transcript_exon_variant,,ENST00000551307,;MON2,upstream_gene_variant,,ENST00000547287,;	4255	98	114	SUCCESS
ACRBP	84519	.	GRCh37	12	6756045	6756045	+	synonymous_variant	Silent	SNP	G	G	A	rs752892968	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	49	81	0	ENST00000229243.2:c.177C>T	p.Thr59=	p.T59=	ENST00000229243	NM_032489.2	59	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8554.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAGGTAGT	NONE	.	.	hmmpanther:PTHR21362,hmmpanther:PTHR21362:SF1,Pfam_domain:PF07222	.	.	ENSP00000229243	.	2/10	.	.	.	.	.	.	.	.	rs752892968	2/10	PASS	ENST00000229243	Transcript	.	.	ENSG00000111644	17195	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACRBP_HUMAN	ACRBP	HGNC	.	.	UPI000006CCAA	SNV	ACRBP,synonymous_variant,p.%3D,ENST00000546114,;ACRBP,synonymous_variant,p.%3D,ENST00000414226,;ACRBP,synonymous_variant,p.%3D,ENST00000536350,;ACRBP,synonymous_variant,p.%3D,ENST00000229243,;ING4,downstream_gene_variant,,ENST00000444704,;ING4,downstream_gene_variant,,ENST00000467678,;ING4,downstream_gene_variant,,ENST00000423703,;ING4,downstream_gene_variant,,ENST00000412586,;ING4,downstream_gene_variant,,ENST00000396807,;ING4,downstream_gene_variant,,ENST00000446105,;ING4,downstream_gene_variant,,ENST00000341550,;ING4,downstream_gene_variant,,ENST00000486287,;ING4,downstream_gene_variant,,ENST00000437149,;ACRBP,upstream_gene_variant,,ENST00000542357,;ACRBP,synonymous_variant,p.%3D,ENST00000535884,;ACRBP,non_coding_transcript_exon_variant,,ENST00000544352,;ACRBP,non_coding_transcript_exon_variant,,ENST00000538524,;ING4,downstream_gene_variant,,ENST00000484795,;ING4,downstream_gene_variant,,ENST00000482489,;ING4,downstream_gene_variant,,ENST00000472002,;ING4,downstream_gene_variant,,ENST00000469749,;ING4,downstream_gene_variant,,ENST00000488381,;	271	81	111	SUCCESS
CNOT2	4848	.	GRCh37	12	70726591	70726591	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs774964600	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	40	56	0	ENST00000229195.3:c.614A>G	p.Asn205Ser	p.N205S	ENST00000229195	NM_014515.5	205	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31857.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAATAACT	NONE	.	.	hmmpanther:PTHR23326	.	.	ENSP00000229195	.	7/16	.	.	.	.	.	.	.	.	rs774964600	7/16	PASS	ENST00000229195	Transcript	.	.	ENSG00000111596	7878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.17)	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,missense_variant,p.Asn205Ser,ENST00000551043,;CNOT2,missense_variant,p.Asn205Ser,ENST00000552231,;CNOT2,missense_variant,p.Asn205Ser,ENST00000229195,;CNOT2,missense_variant,p.Asn197Ser,ENST00000550194,;CNOT2,missense_variant,p.Asn144Ser,ENST00000552915,;CNOT2,missense_variant,p.Asn120Ser,ENST00000551873,;CNOT2,missense_variant,p.Asn205Ser,ENST00000418359,;CNOT2,missense_variant,p.Asn185Ser,ENST00000550641,;CNOT2,missense_variant,p.Asn196Ser,ENST00000548159,;CNOT2,missense_variant,p.Asn15Ser,ENST00000550155,;CNOT2,intron_variant,,ENST00000552483,;CNOT2,intron_variant,,ENST00000550160,;CNOT2,downstream_gene_variant,,ENST00000551132,;CNOT2,upstream_gene_variant,,ENST00000551483,;CNOT2,upstream_gene_variant,,ENST00000552599,;CNOT2,downstream_gene_variant,,ENST00000549750,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548230,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549443,;CNOT2,upstream_gene_variant,,ENST00000549947,;CNOT2,downstream_gene_variant,,ENST00000547149,;CNOT2,intron_variant,,ENST00000548599,;CNOT2,intron_variant,,ENST00000548021,;CNOT2,intron_variant,,ENST00000548863,;CNOT2,downstream_gene_variant,,ENST00000547321,;CNOT2,downstream_gene_variant,,ENST00000552151,;CNOT2,downstream_gene_variant,,ENST00000552319,;	1193	56	78	SUCCESS
MICU2	221154	.	GRCh37	13	22084242	22084242	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	61	239	0	ENST00000382374.4:c.664-2A>C		p.X222_splice	ENST00000382374	NM_152726.2	222		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9297.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTATTAA	NONE	.	.	.	.	.	ENSP00000371811	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382374	Transcript	.	.	ENSG00000165487	31830	.	.	HIGH	7/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICU2_HUMAN	MICU2	HGNC	.	.	UPI0000035DB8	SNV	MICU2,splice_acceptor_variant,,ENST00000468222,;MICU2,splice_acceptor_variant,,ENST00000382374,;MICU2,splice_acceptor_variant,,ENST00000480341,;MICU2,splice_acceptor_variant,,ENST00000476895,;MICU2,splice_acceptor_variant,,ENST00000469058,;	.	239	177	SUCCESS
PDS5B	23047	.	GRCh37	13	33241961	33241961	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs892869982	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	153	319	0	ENST00000315596.10:c.685A>G	p.Ile229Val	p.I229V	ENST00000315596	NM_015032.3	229	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41878.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTATTGAG	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Gene3D:1.25.10.10	.	.	ENSP00000313851	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000315596	Transcript	.	.	ENSG00000083642	20418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.07)	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,missense_variant,p.Ile229Val,ENST00000315596,;PDS5B,missense_variant,p.Ile229Val,ENST00000450460,;PDS5B,non_coding_transcript_exon_variant,,ENST00000498550,;	871	319	211	SUCCESS
NHLRC3	387921	.	GRCh37	13	39621235	39621235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	51	81	0	ENST00000379600.3:c.737A>T	p.Glu246Val	p.E246V	ENST00000379600	NM_001012754.3	246	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS31961.1	737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGAGTGGT	NONE	.	.	hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000368920	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000379600	Transcript	.	.	ENSG00000188811	33751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.05)	.	NHLC3_HUMAN	NHLRC3	HGNC	C9J973_HUMAN	.	UPI0000251E60	SNV	NHLRC3,missense_variant,p.Glu246Val,ENST00000379600,;NHLRC3,missense_variant,p.Glu179Val,ENST00000379599,;NHLRC3,missense_variant,p.Glu49Val,ENST00000470258,;NHLRC3,downstream_gene_variant,,ENST00000485407,;	1059	81	64	SUCCESS
IGHV3-38	28429	.	GRCh37	14	106866562	106866562	+	synonymous_variant	Silent	SNP	C	C	T	rs778816412	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	63	97	0	ENST00000390618.2:c.192G>A	p.Leu64=	p.L64=	ENST00000390618		64	ctG/ctA	0	.	.	.	.	.	T	L	IG_V_gene	YES	.	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCCAGCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375027	.	2/2	.	.	.	.	.	.	.	.	rs778816412	2/2	PASS	ENST00000390618	Transcript	.	.	ENSG00000211958	5601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHV3-38	HGNC	.	.	UPI0000F30366	SNV	IGHV3-38,synonymous_variant,p.%3D,ENST00000390618,;	270	97	133	SUCCESS
RPL36AL	6166	.	GRCh37	14	50085855	50085856	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	DEL	AA	AA	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	49	0	ENST00000298289.6:c.-34_-33del		p.X12_splice	ENST00000298289	NM_001001.4	12		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9689.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGATGAAAACTG	NONE	.	.	.	.	.	ENSP00000346012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298289	Transcript	.	.	ENSG00000165502	10346	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RL36L_HUMAN	RPL36AL	HGNC	R4GN19_HUMAN	.	UPI000000D720	deletion	RPL36AL,splice_region_variant,,ENST00000298289,;LRR1,downstream_gene_variant,,ENST00000298288,;LRR1,downstream_gene_variant,,ENST00000318317,;MGAT2,upstream_gene_variant,,ENST00000305386,;RP11-649E7.5,downstream_gene_variant,,ENST00000555043,;LRR1,downstream_gene_variant,,ENST00000540712,;LRR1,downstream_gene_variant,,ENST00000554869,;	127-128	49	52	SUCCESS
KTN1	3895	.	GRCh37	14	56079290	56079290	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	93	149	0	ENST00000395314.3:c.523+1G>A		p.X175_splice	ENST00000395314	NM_001079521.1	175		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41957.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGGTATTG	NONE	.	.	.	.	.	ENSP00000378725	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	HIGH	2/43	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,splice_donor_variant,,ENST00000395308,;KTN1,splice_donor_variant,,ENST00000438792,;KTN1,splice_donor_variant,,ENST00000395309,;KTN1,splice_donor_variant,,ENST00000413890,;KTN1,splice_donor_variant,,ENST00000395311,;KTN1,splice_donor_variant,,ENST00000395314,;KTN1,splice_donor_variant,,ENST00000416613,;KTN1,intron_variant,,ENST00000554567,;KTN1,downstream_gene_variant,,ENST00000555498,;KTN1,downstream_gene_variant,,ENST00000557267,;KTN1,splice_donor_variant,,ENST00000459737,;	.	149	166	SUCCESS
FAM189A1	23359	.	GRCh37	15	29428590	29428590	+	synonymous_variant	Silent	SNP	C	C	T	rs972245246	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	34	0	ENST00000261275.4:c.906G>A	p.Val302=	p.V302=	ENST00000261275	NM_015307.1	302	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45198.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6	.	.	ENSP00000261275	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000261275	Transcript	.	.	ENSG00000104059	29075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1891_HUMAN	FAM189A1	HGNC	H0YKM1_HUMAN	.	UPI0001641C10	SNV	FAM189A1,synonymous_variant,p.%3D,ENST00000261275,;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	906	34	24	SUCCESS
RYR3	6263	.	GRCh37	15	34065806	34065806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	44	0	ENST00000389232.4:c.9127T>C	p.Tyr3043His	p.Y3043H	ENST00000389232	NM_001036.3	3043	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS45210.1	9127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTATGTT	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	64/104	.	.	.	.	.	.	.	.	.	64/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Tyr3043His,ENST00000389232,;RYR3,missense_variant,p.Tyr3043His,ENST00000415757,;	9197	44	47	SUCCESS
CASC5	0	.	GRCh37	15	40914304	40914304	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	102	0	ENST00000346991.5:c.1920A>C	p.Glu640Asp	p.E640D	ENST00000346991		640	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS42023.1	1920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAATTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2	.	.	ENSP00000335463	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000346991	Transcript	1	.	ENSG00000137812	24054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.36)	.	CASC5_HUMAN	CASC5	HGNC	.	.	UPI0000E59BD3	SNV	CASC5,missense_variant,p.Glu640Asp,ENST00000346991,;CASC5,missense_variant,p.Glu614Asp,ENST00000399668,;CASC5,3_prime_UTR_variant,,ENST00000527044,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;	2310	102	77	SUCCESS
MYO5A	4644	.	GRCh37	15	52708430	52708430	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	114	1	ENST00000399231.3:c.524A>G	p.Tyr175Cys	p.Y175C	ENST00000399231	NM_000259.3	175	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS42037.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATACTTA	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,PROSITE_profiles:PS51456	.	.	ENSP00000382177	.	5/41	.	.	.	.	.	.	.	.	.	5/41	PASS	ENST00000399231	Transcript	1	.	ENSG00000197535	7602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	MYO5A_HUMAN	MYO5A	HGNC	Q9UES4_HUMAN	.	UPI0000E445E1	SNV	MYO5A,missense_variant,p.Tyr175Cys,ENST00000358212,;MYO5A,missense_variant,p.Tyr175Cys,ENST00000399231,;MYO5A,missense_variant,p.Tyr175Cys,ENST00000399233,;MYO5A,missense_variant,p.Tyr175Cys,ENST00000356338,;MYO5A,missense_variant,p.Tyr175Cys,ENST00000553916,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;MYO5A,non_coding_transcript_exon_variant,,ENST00000561810,;	768	115	82	SUCCESS
UNC13C	440279	.	GRCh37	15	54305560	54305560	+	synonymous_variant	Silent	SNP	A	A	C	rs201347376	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	114	0	ENST00000260323.11:c.460A>C	p.Arg154=	p.R154=	ENST00000260323	NM_001080534.1	154	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS45264.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACAGAAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	rs201347376	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;	460	114	103	SUCCESS
MYO1E	4643	.	GRCh37	15	59445837	59445837	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs546147455	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	89	0	ENST00000288235.4:c.3032C>T	p.Thr1011Met	p.T1011M	ENST00000288235	NM_004998.3	1011	aCg/aTg	0	.	A:0.0008	.	A:0	.	A	T/M	protein_coding	YES	CCDS32254.1	3032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGTCTGT	NONE	by1000G	.	.	A:0	.	ENSP00000288235	A:0	26/28	.	.	.	.	.	.	.	.	rs546147455	26/28	PASS	ENST00000288235	Transcript	1	A:0.0002	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	A:0	tolerated(0.11)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Thr2Met,ENST00000559412,;MYO1E,missense_variant,p.Thr1011Met,ENST00000288235,;AC092757.1,upstream_gene_variant,,ENST00000408169,;	3432	89	74	SUCCESS
LMAN1L	79748	.	GRCh37	15	75113449	75113449	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	79	323	0	ENST00000309664.5:c.941G>C	p.Gly314Ala	p.G314A	ENST00000309664	NM_021819.2	314	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS10270.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGCAGAC	NONE	.	.	hmmpanther:PTHR12223:SF27,hmmpanther:PTHR12223	.	.	ENSP00000310431	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000309664	Transcript	.	.	ENSG00000140506	6632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious(0.02)	.	LMA1L_HUMAN	LMAN1L	HGNC	.	.	UPI00001AEF1F	SNV	LMAN1L,missense_variant,p.Gly302Ala,ENST00000379709,;LMAN1L,missense_variant,p.Gly314Ala,ENST00000309664,;LMAN1L,downstream_gene_variant,,ENST00000562810,;LMAN1L,upstream_gene_variant,,ENST00000567848,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000565585,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000564823,;LMAN1L,downstream_gene_variant,,ENST00000456603,;LMAN1L,downstream_gene_variant,,ENST00000570147,;LMAN1L,upstream_gene_variant,,ENST00000566046,;LMAN1L,downstream_gene_variant,,ENST00000470711,;LMAN1L,downstream_gene_variant,,ENST00000568467,;	1080	323	210	SUCCESS
IREB2	3658	.	GRCh37	15	78732183	78732183	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	50	0	ENST00000258886.8:c.66T>G	p.His22Gln	p.H22Q	ENST00000258886	NM_004136.2	22	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS10302.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACATAAGAA	NONE	.	.	hmmpanther:PTHR11670:SF31,hmmpanther:PTHR11670	.	.	ENSP00000258886	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000258886	Transcript	.	.	ENSG00000136381	6115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.58)	.	IREB2_HUMAN	IREB2	HGNC	H0YLE0_HUMAN	.	UPI00001C1F8E	SNV	IREB2,missense_variant,p.His22Gln,ENST00000258886,;IREB2,missense_variant,p.His22Gln,ENST00000560440,;IREB2,5_prime_UTR_variant,,ENST00000560840,;IREB2,non_coding_transcript_exon_variant,,ENST00000560454,;IREB2,missense_variant,p.His22Gln,ENST00000559215,;IREB2,missense_variant,p.His22Gln,ENST00000558525,;IREB2,missense_variant,p.His22Gln,ENST00000558570,;	215	50	26	SUCCESS
ADAMTSL3	57188	.	GRCh37	15	84639291	84639291	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	67	0	ENST00000286744.5:c.2546T>A	p.Leu849Gln	p.L849Q	ENST00000286744	NM_207517.2	849	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS10326.1	2546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTGGCAG	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Pfam_domain:PF00090,Gene3D:2.20.100.10,hmmpanther:PTHR13723:SF169,hmmpanther:PTHR13723,PROSITE_profiles:PS50092	.	.	ENSP00000286744	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000286744	Transcript	.	.	ENSG00000156218	14633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	tolerated(0.09)	.	ATL3_HUMAN	ADAMTSL3	HGNC	.	.	UPI00001615A5	SNV	ADAMTSL3,missense_variant,p.Leu849Gln,ENST00000286744,;ADAMTSL3,missense_variant,p.Leu849Gln,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000562296,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000567716,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	2770	67	75	SUCCESS
RRN3P3	100131998	.	GRCh37	16	22444123	22444123	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs200715642	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	85	2	ENST00000551766.1:n.1060C>T		p.*354*	ENST00000551766				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|VARSCANS	.	TATCCGCTCAA	NONE	.	.	.	.	.	.	.	4/7	.	.	.	.	.	.	.	.	rs200715642	4/7	PASS	ENST00000551766	Transcript	.	.	ENSG00000257122	37620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RRN3P3	HGNC	.	.	.	SNV	CDR2,5_prime_UTR_variant,,ENST00000563573,;CDR2,upstream_gene_variant,,ENST00000564542,;CDR2,non_coding_transcript_exon_variant,,ENST00000569045,;RRN3P3,non_coding_transcript_exon_variant,,ENST00000551766,;SMG1P1,upstream_gene_variant,,ENST00000308347,;SMG1P1,upstream_gene_variant,,ENST00000446662,;RRN3P3,non_coding_transcript_exon_variant,,ENST00000549207,;SMG1P1,upstream_gene_variant,,ENST00000309865,;	1060	87	34	SUCCESS
ARMC5	79798	.	GRCh37	16	31470771	31470771	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	36	69	0	ENST00000268314.4:c.-75G>A		p.*25*	ENST00000268314	NM_001105247.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45472.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGATTTC	NONE	.	.	.	.	.	ENSP00000268314	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000268314	Transcript	.	.	ENSG00000140691	25781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMC5_HUMAN	ARMC5	HGNC	.	.	UPI0000F6E6C0	SNV	ARMC5,5_prime_UTR_variant,,ENST00000268314,;ARMC5,5_prime_UTR_variant,,ENST00000457010,;ARMC5,intron_variant,,ENST00000538189,;ARMC5,intron_variant,,ENST00000563544,;ARMC5,intron_variant,,ENST00000408912,;ARMC5,upstream_gene_variant,,ENST00000564900,;ARMC5,upstream_gene_variant,,ENST00000412665,;RP11-452L6.5,non_coding_transcript_exon_variant,,ENST00000564629,;ARMC5,upstream_gene_variant,,ENST00000564514,;	455	69	52	SUCCESS
CDH8	1006	.	GRCh37	16	61689556	61689556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	83	134	0	ENST00000577390.1:c.1724C>A	p.Pro575Gln	p.P575Q	ENST00000577390	NM_001796.4	575	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS10802.1	1724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTGGTAAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000462701	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,missense_variant,p.Pro575Gln,ENST00000577390,;CDH8,missense_variant,p.Pro575Gln,ENST00000577730,;CDH8,missense_variant,p.Pro575Gln,ENST00000299345,;CDH8,non_coding_transcript_exon_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	2679	134	126	SUCCESS
ATXN1L	342371	.	GRCh37	16	71885144	71885144	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs969112648	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	37	72	0	ENST00000427980.2:c.1501G>A	p.Gly501Arg	p.G501R	ENST00000427980	NM_001137675.3	501	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS45523.1	1501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGGGGG	NONE	.	.	Superfamily_domains:0041756,SMART_domains:SM00536,Gene3D:2.170.16.10,hmmpanther:PTHR13392,Pfam_domain:PF08517,hmmpanther:PTHR13392:SF6,PROSITE_profiles:PS51148	.	.	ENSP00000415822	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000427980	Transcript	.	.	ENSG00000224470	33279	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	ATX1L_HUMAN	ATXN1L	HGNC	G1UI23_HUMAN	.	UPI0000198982	SNV	ATXN1L,missense_variant,p.Gly501Arg,ENST00000427980,;IST1,intron_variant,,ENST00000568581,;ATXN1L,intron_variant,,ENST00000569119,;ATXN1L,downstream_gene_variant,,ENST00000565676,;	1794	72	57	SUCCESS
CDH13	1012	.	GRCh37	16	83636063	83636063	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	87	0	ENST00000268613.10:c.1106T>C	p.Leu369Pro	p.L369P	ENST00000268613		369	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS58485.1	1106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTGGAAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF80,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268613	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000268613	Transcript	.	.	ENSG00000140945	1753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	deleterious(0.03)	.	CAD13_HUMAN	CDH13	HGNC	.	.	UPI00020E71A6	SNV	CDH13,missense_variant,p.Leu283Pro,ENST00000428848,;CDH13,missense_variant,p.Leu369Pro,ENST00000268613,;CDH13,missense_variant,p.Leu322Pro,ENST00000566620,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	1199	87	72	SUCCESS
ADAD2	161931	.	GRCh37	16	84229176	84229176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	59	95	0	ENST00000315906.5:c.925C>T	p.Pro309Ser	p.P309S	ENST00000315906	NM_001145400.1	309	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10944.1	1171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCCCAAG	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000268624	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	deleterious(0.04)	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,missense_variant,p.Pro309Ser,ENST00000315906,;ADAD2,missense_variant,p.Pro218Ser,ENST00000567685,;ADAD2,missense_variant,p.Pro391Ser,ENST00000268624,;RP11-486L19.2,intron_variant,,ENST00000569834,;RP11-486L19.2,intron_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,downstream_gene_variant,,ENST00000564169,;	1264	95	78	SUCCESS
DNAH9	1770	.	GRCh37	17	11515326	11515326	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000262442.4:c.904+229C>A		p.*302*	ENST00000262442	NM_001372.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11160.1	.	MUTECT|MUSE	.	CTAGCCCCTCT	NONE	.	.	.	.	.	ENSP00000262442	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODIFIER	4/68	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,3_prime_UTR_variant,,ENST00000579828,;DNAH9,intron_variant,,ENST00000454412,;DNAH9,intron_variant,,ENST00000262442,;DNAH9,intron_variant,,ENST00000579813,;DNAH9,intron_variant,,ENST00000579602,;DNAH9,intron_variant,,ENST00000579406,;	.	11	9	SUCCESS
ELAC2	60528	.	GRCh37	17	12905600	12905600	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	60	1	ENST00000338034.4:c.1295A>T	p.Glu432Val	p.E432V	ENST00000338034	NM_018127.6	432	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS11164.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTCCCTC	NONE	.	.	hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44	.	.	ENSP00000337445	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0.04)	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,missense_variant,p.Glu232Val,ENST00000584650,;ELAC2,missense_variant,p.Glu392Val,ENST00000426905,;ELAC2,missense_variant,p.Glu432Val,ENST00000338034,;ELAC2,missense_variant,p.Glu212Val,ENST00000446899,;ELAC2,missense_variant,p.Glu413Val,ENST00000395962,;ELAC2,downstream_gene_variant,,ENST00000609101,;ELAC2,downstream_gene_variant,,ENST00000580504,;ELAC2,downstream_gene_variant,,ENST00000609345,;ELAC2,3_prime_UTR_variant,,ENST00000476042,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;ELAC2,non_coding_transcript_exon_variant,,ENST00000480891,;ELAC2,non_coding_transcript_exon_variant,,ENST00000492559,;ELAC2,non_coding_transcript_exon_variant,,ENST00000578104,;ELAC2,non_coding_transcript_exon_variant,,ENST00000578991,;ELAC2,non_coding_transcript_exon_variant,,ENST00000487229,;ELAC2,upstream_gene_variant,,ENST00000491478,;ELAC2,upstream_gene_variant,,ENST00000465825,;	1535	61	55	SUCCESS
PMP22	5376	.	GRCh37	17	15134247	15134247	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	86	0	ENST00000312280.3:c.470G>A	p.Arg157Gln	p.R157Q	ENST00000312280	NM_000304.3	157	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11168.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCCGCAAG	NONE	.	.	hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF7	.	.	ENSP00000379269	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000395938	Transcript	.	.	ENSG00000109099	9118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PMP22_HUMAN	PMP22	HGNC	Q6FH25_HUMAN,B4DUL1_HUMAN	.	UPI0000131C8E	SNV	PMP22,missense_variant,p.Arg157Gln,ENST00000395938,;PMP22,missense_variant,p.Arg157Gln,ENST00000312280,;PMP22,synonymous_variant,p.%3D,ENST00000494511,;PMP22,3_prime_UTR_variant,,ENST00000395936,;PMP22,downstream_gene_variant,,ENST00000580584,;	665	86	114	SUCCESS
TBC1D26	353149	.	GRCh37	17	15638739	15638739	+	splice_donor_variant,NMD_transcript_variant	Splice_Site	SNP	T	T	A	rs1228274937	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	58	167	0	ENST00000469477.2:c.75+2T>A		p.X25_splice	ENST00000469477		25		0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	CCDS11172.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTACAAG	NONE	.	.	.	.	.	ENSP00000458062	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000413242	Transcript	.	.	ENSG00000255104	13501	.	.	MODIFIER	7/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z286A_HUMAN	ZNF286A	HGNC	K7EQ88_HUMAN,A1A525_HUMAN	.	UPI000013C347	SNV	ZNF286A,splice_donor_variant,,ENST00000593105,;TBC1D26,splice_donor_variant,,ENST00000580596,;TBC1D26,splice_donor_variant,,ENST00000437605,;TBC1D26,splice_donor_variant,,ENST00000464963,;TBC1D26,splice_donor_variant,,ENST00000579428,;TBC1D26,downstream_gene_variant,,ENST00000584301,;TBC1D26,downstream_gene_variant,,ENST00000578506,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,downstream_gene_variant,,ENST00000433873,;ZNF286A,downstream_gene_variant,,ENST00000583675,;TBC1D26,downstream_gene_variant,,ENST00000583620,;TBC1D26,downstream_gene_variant,,ENST00000582140,;ZNF286A,downstream_gene_variant,,ENST00000585171,;TBC1D26,downstream_gene_variant,,ENST00000582534,;TBC1D26,splice_donor_variant,,ENST00000491819,;ZNF286A,splice_donor_variant,,ENST00000412988,;TBC1D26,splice_donor_variant,,ENST00000469477,;ZNF286A,intron_variant,,ENST00000413242,;TBC1D26,upstream_gene_variant,,ENST00000580970,;	.	167	134	SUCCESS
TMEM98	26022	.	GRCh37	17	31258571	31258571	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs142287076	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	41	0	ENST00000394642.3:c.25A>G	p.Ile9Val	p.I9V	ENST00000394642	NM_001033504.1	9	Ata/Gta	0	G:0.0005	.	.	.	.	G	I/V	protein_coding	YES	CCDS11274.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCATAGGT	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32510	.	G:0	ENSP00000463245	.	3/8	.	.	.	.	.	.	.	.	rs142287076	3/8	PASS	ENST00000579849	Transcript	.	.	ENSG00000006042	24529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.14)	.	TMM98_HUMAN	TMEM98	HGNC	J3QS57_HUMAN,J3QLG7_HUMAN,C9J6Q8_HUMAN,C9J3Y0_HUMAN	.	UPI00000361DE	SNV	TMEM98,missense_variant,p.Ile9Val,ENST00000439138,;TMEM98,missense_variant,p.Ile9Val,ENST00000583437,;TMEM98,missense_variant,p.Ile9Val,ENST00000395149,;TMEM98,missense_variant,p.Ile9Val,ENST00000579849,;TMEM98,missense_variant,p.Ile9Val,ENST00000578289,;TMEM98,missense_variant,p.Ile9Val,ENST00000394642,;TMEM98,missense_variant,p.Ile9Val,ENST00000261713,;TMEM98,non_coding_transcript_exon_variant,,ENST00000582227,;TMEM98,non_coding_transcript_exon_variant,,ENST00000583120,;	456	41	56	SUCCESS
SLFN11	91607	.	GRCh37	17	33679831	33679831	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	64	0	ENST00000308377.4:c.2250T>C	p.Ser750=	p.S750=	ENST00000308377	NM_152270.3	750	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11294.1	2250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTACTTCT	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,synonymous_variant,p.%3D,ENST00000394566,;SLFN11,synonymous_variant,p.%3D,ENST00000308377,;SLFN11,3_prime_UTR_variant,,ENST00000592108,;	2523	64	105	SUCCESS
TMEM101	84336	.	GRCh37	17	42089431	42089431	+	synonymous_variant	Silent	SNP	A	A	G	rs201655817	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	96	1	ENST00000206380.3:c.639T>C	p.Pro213=	p.P213=	ENST00000206380	NM_032376.2	213	ccT/ccC	0	.	G:0	.	G:0.0014	.	G	P	protein_coding	YES	CCDS11474.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAGGGGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR31034,hmmpanther:PTHR31034:SF1,Pfam_domain:PF15111	G:0	.	ENSP00000468025	G:0	5/5	.	.	.	.	.	.	.	.	rs201655817	5/5	PASS	ENST00000589334	Transcript	.	G:0.0002	ENSG00000091947	28653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TM101_HUMAN	TMEM101	HGNC	K7ERS4_HUMAN,K7EPU9_HUMAN,K7EM72_HUMAN,B4DFS4_HUMAN	.	UPI000006E158	SNV	TMEM101,synonymous_variant,p.%3D,ENST00000589334,;TMEM101,synonymous_variant,p.%3D,ENST00000542039,;TMEM101,synonymous_variant,p.%3D,ENST00000206380,;TMEM101,downstream_gene_variant,,ENST00000587529,;TMEM101,downstream_gene_variant,,ENST00000590905,;NAGS,downstream_gene_variant,,ENST00000293404,;NAGS,downstream_gene_variant,,ENST00000589767,;TMEM101,downstream_gene_variant,,ENST00000586174,;TMEM101,downstream_gene_variant,,ENST00000592127,;TMEM101,downstream_gene_variant,,ENST00000585950,;NAGS,downstream_gene_variant,,ENST00000592915,;	955	97	86	SUCCESS
FAM171A2	284069	.	GRCh37	17	42432445	42432445	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	32	151	0	ENST00000293443.7:c.1137G>T	p.Gly379=	p.G379=	ENST00000293443	NM_198475.2	379	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45701.1	1137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCCCACA	NONE	.	.	hmmpanther:PTHR31626:SF3,hmmpanther:PTHR31626,Pfam_domain:PF10577	.	.	ENSP00000293443	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000293443	Transcript	.	.	ENSG00000161682	30480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1712_HUMAN	FAM171A2	HGNC	.	.	UPI0000E59FC0	SNV	FAM171A2,synonymous_variant,p.%3D,ENST00000293443,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000593167,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000586242,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000053867,;GRN,downstream_gene_variant,,ENST00000589265,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000586443,;GRN,downstream_gene_variant,,ENST00000589923,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000586782,;FAM171A2,downstream_gene_variant,,ENST00000592560,;GRN,downstream_gene_variant,,ENST00000590984,;FAM171A2,downstream_gene_variant,,ENST00000589407,;	1298	151	163	SUCCESS
SRSF1	6426	.	GRCh37	17	56082903	56082903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	23	131	0	ENST00000258962.4:c.611G>A	p.Arg204Lys	p.R204K	ENST00000258962	NM_006924.4	204	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS11600.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCTTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF87,Gene3D:3.30.70.330	.	.	ENSP00000258962	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000258962	Transcript	.	.	ENSG00000136450	10780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.35)	.	SRSF1_HUMAN	SRSF1	HGNC	J3QQV5_HUMAN	.	UPI0000001220	SNV	SRSF1,missense_variant,p.Arg204Lys,ENST00000258962,;SRSF1,missense_variant,p.Arg204Lys,ENST00000584773,;SRSF1,3_prime_UTR_variant,,ENST00000582730,;SRSF1,intron_variant,,ENST00000585096,;RP11-159D12.5,upstream_gene_variant,,ENST00000578794,;SRSF1,upstream_gene_variant,,ENST00000581497,;SRSF1,missense_variant,p.Arg99Lys,ENST00000584668,;SRSF1,3_prime_UTR_variant,,ENST00000581979,;SRSF1,3_prime_UTR_variant,,ENST00000583741,;SRSF1,downstream_gene_variant,,ENST00000578430,;	820	131	130	SUCCESS
BRIP1	83990	.	GRCh37	17	59763074	59763074	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	12	0	ENST00000259008.2:c.2905+123C>G		p.*969*	ENST00000259008	NM_032043.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11631.1	.	RADIA|MUTECT|MUSE	.	TTTATGATAAC	NONE	.	.	.	.	.	ENSP00000259008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259008	Transcript	.	.	ENSG00000136492	20473	.	.	MODIFIER	19/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FANCJ_HUMAN	BRIP1	HGNC	J3KS24_HUMAN	.	UPI000013D01F	SNV	BRIP1,3_prime_UTR_variant,,ENST00000577598,;BRIP1,intron_variant,,ENST00000259008,;	.	12	12	SUCCESS
EXOC7	23265	.	GRCh37	17	74080622	74080622	+	synonymous_variant	Silent	SNP	T	T	C	rs770106424	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	107	2	ENST00000335146.7:c.1905A>G	p.Leu635=	p.L635=	ENST00000335146		635	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS45782.1	1905	RADIA|SOMATICSNIPER|VARSCANS	.	ACAGGTAGATT	NONE	.	.	Superfamily_domains:SSF74788,Pfam_domain:PF03081,hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	.	.	ENSP00000334100	.	17/20	.	.	.	.	.	.	.	.	rs770106424	17/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,synonymous_variant,p.%3D,ENST00000589210,;EXOC7,synonymous_variant,p.%3D,ENST00000357231,;EXOC7,synonymous_variant,p.%3D,ENST00000332065,;EXOC7,synonymous_variant,p.%3D,ENST00000335146,;EXOC7,synonymous_variant,p.%3D,ENST00000467929,;EXOC7,synonymous_variant,p.%3D,ENST00000411744,;EXOC7,synonymous_variant,p.%3D,ENST00000405575,;EXOC7,synonymous_variant,p.%3D,ENST00000607838,;ZACN,downstream_gene_variant,,ENST00000392503,;ZACN,downstream_gene_variant,,ENST00000334586,;EXOC7,upstream_gene_variant,,ENST00000591724,;EXOC7,non_coding_transcript_exon_variant,,ENST00000467586,;EXOC7,non_coding_transcript_exon_variant,,ENST00000465252,;EXOC7,downstream_gene_variant,,ENST00000486053,;EXOC7,downstream_gene_variant,,ENST00000494787,;ZACN,downstream_gene_variant,,ENST00000421794,;EXOC7,downstream_gene_variant,,ENST00000592559,;ZACN,downstream_gene_variant,,ENST00000590045,;ZACN,downstream_gene_variant,,ENST00000591500,;ZACN,downstream_gene_variant,,ENST00000524242,;ZACN,downstream_gene_variant,,ENST00000425015,;EXOC7,downstream_gene_variant,,ENST00000460476,;	1959	109	110	SUCCESS
CELF4	56853	.	GRCh37	18	34855176	34855176	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	119	170	0	ENST00000420428.2:c.479A>G	p.Asn160Ser	p.N160S	ENST00000420428	NM_020180.3	160	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS32818.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGTTGAGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF181,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000410584	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000420428	Transcript	.	.	ENSG00000101489	14015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.98)	.	CELF4_HUMAN	CELF4	HGNC	K7EJK3_HUMAN	.	UPI00000726FC	SNV	CELF4,missense_variant,p.Asn160Ser,ENST00000420428,;CELF4,missense_variant,p.Asn150Ser,ENST00000601392,;CELF4,missense_variant,p.Asn149Ser,ENST00000588597,;CELF4,missense_variant,p.Asn150Ser,ENST00000334919,;CELF4,missense_variant,p.Asn160Ser,ENST00000603232,;CELF4,missense_variant,p.Asn160Ser,ENST00000591282,;CELF4,missense_variant,p.Asn159Ser,ENST00000591287,;CELF4,missense_variant,p.Asn159Ser,ENST00000361795,;CELF4,missense_variant,p.Asn160Ser,ENST00000412753,;CELF4,missense_variant,p.Asn28Ser,ENST00000587924,;CELF4,missense_variant,p.Asn26Ser,ENST00000587819,;CELF4,missense_variant,p.Asn159Ser,ENST00000601019,;CELF4,missense_variant,p.Asn37Ser,ENST00000589229,;CELF4,upstream_gene_variant,,ENST00000587657,;CELF4,upstream_gene_variant,,ENST00000589386,;CELF4,upstream_gene_variant,,ENST00000593271,;CELF4,upstream_gene_variant,,ENST00000586009,;CELF4,upstream_gene_variant,,ENST00000588591,;RP11-797E24.3,intron_variant,,ENST00000586610,;RP11-797E24.3,intron_variant,,ENST00000588766,;CELF4,upstream_gene_variant,,ENST00000587074,;CELF4,missense_variant,p.Asn26Ser,ENST00000590112,;CELF4,upstream_gene_variant,,ENST00000591421,;	875	170	146	SUCCESS
ANKRD12	23253	.	GRCh37	18	9258186	9258186	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779879268	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	77	94	0	ENST00000262126.4:c.4921G>T	p.Val1641Phe	p.V1641F	ENST00000262126	NM_015208.4	1641	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS11843.1	4921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGGTTTTA	NONE	byFrequency	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	rs779879268,COSM3821799	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.008)	.	tolerated_low_confidence(0.1)	0,1	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Val1641Phe,ENST00000262126,;ANKRD12,missense_variant,p.Val1618Phe,ENST00000383440,;ANKRD12,missense_variant,p.Val1618Phe,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000359158,;	5161	95	102	SUCCESS
TXNDC2	84203	.	GRCh37	18	9887223	9887223	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	97	126	1	ENST00000306084.6:c.747C>T	p.Pro249=	p.P249=	ENST00000306084	NM_001098529.1	249	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42414.1	747	RADIA|SOMATICSNIPER|VARSCANS	.	CAGCCCAAGGA	NONE	.	.	Pfam_domain:PF03157	.	.	ENSP00000304908	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306084	Transcript	.	.	ENSG00000168454	16470	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TXND2_HUMAN	TXNDC2	HGNC	F5H6S7_HUMAN	.	UPI000013EAE7	SNV	TXNDC2,synonymous_variant,p.%3D,ENST00000357775,;TXNDC2,synonymous_variant,p.%3D,ENST00000306084,;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;	946	128	133	SUCCESS
ILF3	3609	.	GRCh37	19	10795035	10795035	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	42	0	ENST00000590261.1:c.2059+389G>C		p.*687*	ENST00000590261				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGCCCTT	NONE	.	.	.	.	.	ENSP00000404121	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449870	Transcript	.	.	ENSG00000129351	6038	.	.	MODIFIER	17/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ILF3_HUMAN	ILF3	HGNC	K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN	.	UPI000059D66A	SNV	ILF3,3_prime_UTR_variant,,ENST00000592763,;ILF3,intron_variant,,ENST00000590261,;ILF3,intron_variant,,ENST00000318511,;ILF3,intron_variant,,ENST00000589998,;ILF3,intron_variant,,ENST00000593061,;ILF3,intron_variant,,ENST00000590869,;ILF3,intron_variant,,ENST00000407004,;ILF3,intron_variant,,ENST00000250241,;ILF3,intron_variant,,ENST00000588657,;ILF3,intron_variant,,ENST00000420083,;ILF3,intron_variant,,ENST00000449870,;ILF3,downstream_gene_variant,,ENST00000590009,;ILF3,upstream_gene_variant,,ENST00000586544,;ILF3,intron_variant,,ENST00000587928,;ILF3,downstream_gene_variant,,ENST00000589173,;ILF3,upstream_gene_variant,,ENST00000591649,;ILF3,downstream_gene_variant,,ENST00000585835,;ILF3,downstream_gene_variant,,ENST00000587840,;ILF3,downstream_gene_variant,,ENST00000589416,;ILF3,downstream_gene_variant,,ENST00000589485,;ILF3,downstream_gene_variant,,ENST00000587505,;	.	42	59	SUCCESS
CC2D1A	54862	.	GRCh37	19	14028917	14028917	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	67	129	0	ENST00000318003.7:c.783G>T	p.Gln261His	p.Q261H	ENST00000318003	NM_017721.4	261	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS42512.1	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGAGCCG	NONE	.	.	hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7,SMART_domains:SM00685	.	.	ENSP00000313601	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000318003	Transcript	1	.	ENSG00000132024	30237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.38)	.	C2D1A_HUMAN	CC2D1A	HGNC	.	.	UPI0000203524	SNV	CC2D1A,missense_variant,p.Gln261His,ENST00000589606,;CC2D1A,missense_variant,p.Gln261His,ENST00000318003,;CC2D1A,missense_variant,p.Gln107His,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000585896,;CC2D1A,upstream_gene_variant,,ENST00000589679,;CC2D1A,upstream_gene_variant,,ENST00000589138,;CC2D1A,upstream_gene_variant,,ENST00000588932,;	1024	129	120	SUCCESS
CLEC17A	388512	.	GRCh37	19	14703118	14703118	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs753137908	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	29	193	0	ENST00000417570.1:c.225T>G	p.Asp75Glu	p.D75E	ENST00000417570	NM_001204118.1	75	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS56087.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGATGATGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22802:SF214,hmmpanther:PTHR22802	.	.	ENSP00000393719	.	4/14	.	.	.	.	.	.	.	.	rs753137908	4/14	PASS	ENST00000417570	Transcript	.	.	ENSG00000187912	34520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.69)	.	CL17A_HUMAN	CLEC17A	HGNC	.	.	UPI0001747A7C	SNV	CLEC17A,missense_variant,p.Asp75Glu,ENST00000417570,;CLEC17A,missense_variant,p.Asp75Glu,ENST00000547437,;CLEC17A,intron_variant,,ENST00000397439,;RN7SL842P,downstream_gene_variant,,ENST00000477654,;CLEC17A,missense_variant,p.Asp75Glu,ENST00000339847,;CLEC17A,missense_variant,p.Asp75Glu,ENST00000551730,;	263	194	135	SUCCESS
ARMC6	93436	.	GRCh37	19	19162935	19162935	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	38	0	ENST00000392336.3:c.784G>A	p.Ala262Thr	p.A262T	ENST00000392336		262	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS56089.1	784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGCCCAC	NONE	.	.	hmmpanther:PTHR22895,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000444156	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000535612	Transcript	.	.	ENSG00000105676	25049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ARMC6_HUMAN	ARMC6	HGNC	F5H7V0_HUMAN,F5H6J3_HUMAN,F5H4P3_HUMAN,F5H3X1_HUMAN,F5H2X2_HUMAN,F5H2K4_HUMAN,F5H052_HUMAN,F5GWV0_HUMAN,B4E1N1_HUMAN	.	UPI0000D4C04D	SNV	ARMC6,missense_variant,p.Ala237Thr,ENST00000537263,;ARMC6,missense_variant,p.Ala169Thr,ENST00000546344,;ARMC6,missense_variant,p.Ala262Thr,ENST00000392336,;ARMC6,missense_variant,p.Ala237Thr,ENST00000392335,;ARMC6,missense_variant,p.Ala237Thr,ENST00000269932,;ARMC6,missense_variant,p.Ala262Thr,ENST00000535612,;ARMC6,missense_variant,p.Ala237Thr,ENST00000541898,;ARMC6,downstream_gene_variant,,ENST00000541725,;ARMC6,downstream_gene_variant,,ENST00000536098,;ARMC6,upstream_gene_variant,,ENST00000540634,;ARMC6,downstream_gene_variant,,ENST00000535288,;ARMC6,downstream_gene_variant,,ENST00000538663,;ARMC6,downstream_gene_variant,,ENST00000540792,;ARMC6,upstream_gene_variant,,ENST00000535478,;ARMC6,upstream_gene_variant,,ENST00000535795,;ARMC6,3_prime_UTR_variant,,ENST00000545091,;ARMC6,downstream_gene_variant,,ENST00000535758,;ARMC6,downstream_gene_variant,,ENST00000539985,;	1216	38	34	SUCCESS
ZFR2	23217	.	GRCh37	19	3825331	3825331	+	synonymous_variant	Silent	SNP	G	G	T	rs747160977,rs747884511	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	36	0	ENST00000262961.4:c.1110C>A	p.Pro370=	p.P370=	ENST00000262961	NM_015174.1	370	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45921.1	1110	MUTECT|MUSE	.	GCCCCGGGGGG	NONE	.	.	hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85	.	.	ENSP00000262961	.	7/19	.	.	.	.	.	.	.	.	rs747160977,rs747884511	7/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,synonymous_variant,p.%3D,ENST00000262961,;ZFR2,intron_variant,,ENST00000438164,;	1121	36	33	SUCCESS
MEGF8	1954	.	GRCh37	19	42880376	42880376	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	105	0	ENST00000251268.6:c.7987C>G	p.Leu2663Val	p.L2663V	ENST00000251268		2663	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12604.2	7786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCTCTCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000334219	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Leu257Val,ENST00000378073,;MEGF8,missense_variant,p.Leu2596Val,ENST00000334370,;MEGF8,missense_variant,p.Leu2663Val,ENST00000251268,;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000599787,;	8421	105	90	SUCCESS
CBLC	23624	.	GRCh37	19	45281177	45281177	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs757331996	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	49	114	0	ENST00000270279.3:c.-12C>A		p.*4*	ENST00000270279	NM_012116.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12643.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACACGCGAG	NONE	.	.	.	.	.	ENSP00000270279	.	1/11	.	.	.	.	.	.	.	.	rs757331996	1/11	PASS	ENST00000270279	Transcript	.	.	ENSG00000142273	15961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLC_HUMAN	CBLC	HGNC	.	.	UPI000013D87E	SNV	CBLC,5_prime_UTR_variant,,ENST00000341505,;CBLC,5_prime_UTR_variant,,ENST00000270279,;	52	114	106	SUCCESS
ERCC1	2067	.	GRCh37	19	45926590	45926590	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	54	0	ENST00000300853.3:c.43G>T	p.Gly15Trp	p.G15W	ENST00000300853	NM_001983.3	15	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS12663.1	43	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCTGAGG	NONE	.	.	hmmpanther:PTHR12749:SF0,hmmpanther:PTHR12749	.	.	ENSP00000013807	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000013807	Transcript	1	.	ENSG00000012061	3433	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.919)	.	deleterious_low_confidence(0)	.	ERCC1_HUMAN	ERCC1	HGNC	Q8WWH8_HUMAN,K7ER89_HUMAN,K7EP14_HUMAN,K7EK97_HUMAN	.	UPI000019C835	SNV	ERCC1,missense_variant,p.Gly15Trp,ENST00000589381,;ERCC1,missense_variant,p.Gly15Trp,ENST00000300853,;ERCC1,missense_variant,p.Gly15Trp,ENST00000423698,;ERCC1,missense_variant,p.Gly15Trp,ENST00000589214,;ERCC1,missense_variant,p.Gly15Trp,ENST00000013807,;ERCC1,missense_variant,p.Gly15Trp,ENST00000591636,;ERCC1,missense_variant,p.Gly15Trp,ENST00000592083,;ERCC1,missense_variant,p.Gly15Trp,ENST00000592023,;ERCC1,missense_variant,p.Gly15Trp,ENST00000340192,;ERCC1,missense_variant,p.Gly15Trp,ENST00000589165,;ERCC1,upstream_gene_variant,,ENST00000590701,;ERCC1,non_coding_transcript_exon_variant,,ENST00000588300,;ERCC1,non_coding_transcript_exon_variant,,ENST00000592905,;ERCC1,upstream_gene_variant,,ENST00000587888,;	235	54	28	SUCCESS
GRWD1	83743	.	GRCh37	19	48954417	48954417	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140220072	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	86	0	ENST00000253237.5:c.952C>T	p.Arg318Cys	p.R318C	ENST00000253237	NM_031485.3	318	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS12720.1	952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCGCCGG	NONE	byCluster	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22850,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	T:0.0001	ENSP00000253237	.	6/7	.	.	.	.	.	.	.	.	rs140220072	6/7	PASS	ENST00000253237	Transcript	.	.	ENSG00000105447	21270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0.02)	.	GRWD1_HUMAN	GRWD1	HGNC	M0QX71_HUMAN,A0MNN5_HUMAN	.	UPI000012BB5B	SNV	GRWD1,missense_variant,p.Arg318Cys,ENST00000253237,;GRWD1,missense_variant,p.Arg215Cys,ENST00000598711,;KCNJ14,upstream_gene_variant,,ENST00000342291,;GRWD1,downstream_gene_variant,,ENST00000599949,;	1185	86	84	SUCCESS
ZNF702P	79986	.	GRCh37	19	53473005	53473005	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	36	180	0	ENST00000270443.4:n.1489T>A		p.*497*	ENST00000270443				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAACCTT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000598752,;ZNF702P,downstream_gene_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	1489	180	170	SUCCESS
ZNF160	90338	.	GRCh37	19	53589538	53589538	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	51	0	ENST00000418871.1:c.-9G>T		p.*3*	ENST00000418871	NM_033288.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12859.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTCCTTTT	NONE	.	.	.	.	.	ENSP00000406201	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000429604	Transcript	.	.	ENSG00000170949	12948	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN160_HUMAN	ZNF160	HGNC	M0QZI7_HUMAN,M0QZ49_HUMAN,M0QXU9_HUMAN	.	UPI0000202B37	SNV	ZNF160,5_prime_UTR_variant,,ENST00000599637,;ZNF160,5_prime_UTR_variant,,ENST00000429604,;ZNF160,5_prime_UTR_variant,,ENST00000418871,;ZNF160,5_prime_UTR_variant,,ENST00000355147,;ZNF160,5_prime_UTR_variant,,ENST00000599247,;ZNF160,5_prime_UTR_variant,,ENST00000599056,;ZNF160,upstream_gene_variant,,ENST00000601982,;ZNF160,non_coding_transcript_exon_variant,,ENST00000596966,;ZNF160,non_coding_transcript_exon_variant,,ENST00000594760,;ZNF160,non_coding_transcript_exon_variant,,ENST00000602095,;ZNF160,upstream_gene_variant,,ENST00000599729,;ZNF160,non_coding_transcript_exon_variant,,ENST00000597112,;ZNF160,non_coding_transcript_exon_variant,,ENST00000600924,;ZNF160,downstream_gene_variant,,ENST00000599980,;	408	51	63	SUCCESS
BIRC8	112401	.	GRCh37	19	53794345	53794345	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	37	121	0	ENST00000426466.1:c.-718T>A		p.*240*	ENST00000426466	NM_033341.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12863.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGACACAT	NONE	.	.	.	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,5_prime_UTR_variant,,ENST00000426466,;	531	121	123	SUCCESS
DENND1C	79958	.	GRCh37	19	6475892	6475892	+	synonymous_variant	Silent	SNP	G	G	A	rs746951264	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	28	85	0	ENST00000381480.2:c.735C>T	p.His245=	p.H245=	ENST00000381480	NM_024898.2	245	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS45938.1	735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGTGCTC	NONE	byFrequency	.	PROSITE_profiles:PS50211,hmmpanther:PTHR13196:SF21,hmmpanther:PTHR13196,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000370889	.	11/23	.	.	.	.	.	.	.	.	rs746951264	11/23	PASS	ENST00000381480	Transcript	.	.	ENSG00000205744	26225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN1C_HUMAN	DENND1C	HGNC	K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN	.	UPI000007469C	SNV	DENND1C,synonymous_variant,p.%3D,ENST00000381480,;DENND1C,synonymous_variant,p.%3D,ENST00000543576,;DENND1C,downstream_gene_variant,,ENST00000590173,;DENND1C,downstream_gene_variant,,ENST00000588421,;DENND1C,downstream_gene_variant,,ENST00000590473,;DENND1C,downstream_gene_variant,,ENST00000591030,;DENND1C,synonymous_variant,p.%3D,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590444,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590818,;DENND1C,downstream_gene_variant,,ENST00000586046,;DENND1C,downstream_gene_variant,,ENST00000589491,;DENND1C,downstream_gene_variant,,ENST00000588988,;DENND1C,downstream_gene_variant,,ENST00000592543,;	848	85	60	SUCCESS
PIN1	5300	.	GRCh37	19	9946009	9946009	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	37	0	ENST00000247970.4:c.-12G>A		p.*4*	ENST00000247970	NM_006221.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12220.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGCAGGA	NONE	.	.	.	.	.	ENSP00000247970	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000247970	Transcript	.	.	ENSG00000127445	8988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIN1_HUMAN	PIN1	HGNC	Q8NFL2_HUMAN	.	UPI000004062D	SNV	PIN1,5_prime_UTR_variant,,ENST00000587625,;PIN1,5_prime_UTR_variant,,ENST00000247970,;PIN1,upstream_gene_variant,,ENST00000588695,;CTD-2623N2.11,upstream_gene_variant,,ENST00000591174,;PIN1,non_coding_transcript_exon_variant,,ENST00000592184,;PIN1,upstream_gene_variant,,ENST00000589058,;PIN1,upstream_gene_variant,,ENST00000590540,;PIN1,upstream_gene_variant,,ENST00000380889,;PIN1,upstream_gene_variant,,ENST00000585442,;PIN1,non_coding_transcript_exon_variant,,ENST00000586025,;PIN1,upstream_gene_variant,,ENST00000591777,;PIN1,upstream_gene_variant,,ENST00000586352,;	11	37	35	SUCCESS
ADAM30	11085	.	GRCh37	1	120436833	120436833	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	57	135	0	ENST00000369400.1:c.2127G>T	p.Arg709=	p.R709=	ENST00000369400	NM_021794.3	709	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS907.1	2127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCCGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF31,hmmpanther:PTHR11905	.	.	ENSP00000358407	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369400	Transcript	.	.	ENSG00000134249	208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA30_HUMAN	ADAM30	HGNC	.	.	UPI000004C638	SNV	ADAM30,synonymous_variant,p.%3D,ENST00000369400,;	2286	135	88	SUCCESS
FLG	2312	.	GRCh37	1	152282011	152282011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	44	105	2	ENST00000368799.1:c.5351C>A	p.Pro1784His	p.P1784H	ENST00000368799	NM_002016.1	1784	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS30860.1	5351	RADIA|SOMATICSNIPER|VARSCANS	.	TGCTGGGCCCT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.893)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Pro1784His,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5387	107	138	SUCCESS
SPRR2G	6706	.	GRCh37	1	153122523	153122523	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	31	0	ENST00000368748.4:c.64A>T	p.Lys22Ter	p.K22*	ENST00000368748	NM_001014291.3	22	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS30868.1	64	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTTTGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF35,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR00021	.	.	ENSP00000357737	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368748	Transcript	.	.	ENSG00000159516	11267	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPR2G_HUMAN	SPRR2G	HGNC	.	.	UPI000006DF1B	SNV	SPRR2G,stop_gained,p.Lys22Ter,ENST00000368748,;	103	31	55	SUCCESS
UBAP2L	9898	.	GRCh37	1	154226519	154226519	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	94	0	ENST00000361546.2:c.1808C>T	p.Pro603Leu	p.P603L	ENST00000361546		603	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1063.1	1808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACCCCAGCT	NONE	.	.	hmmpanther:PTHR16308:SF18,hmmpanther:PTHR16308	.	.	ENSP00000389445	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.08)	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,missense_variant,p.Pro603Leu,ENST00000361546,;UBAP2L,missense_variant,p.Pro614Leu,ENST00000271877,;UBAP2L,missense_variant,p.Pro603Leu,ENST00000343815,;UBAP2L,missense_variant,p.Pro603Leu,ENST00000428931,;UBAP2L,upstream_gene_variant,,ENST00000433615,;UBAP2L,upstream_gene_variant,,ENST00000428595,;AL590431.1,upstream_gene_variant,,ENST00000517008,;UBAP2L,upstream_gene_variant,,ENST00000484696,;UBAP2L,downstream_gene_variant,,ENST00000466173,;UBAP2L,upstream_gene_variant,,ENST00000495676,;UBAP2L,upstream_gene_variant,,ENST00000489076,;UBAP2L,upstream_gene_variant,,ENST00000465855,;	1975	94	120	SUCCESS
SERPINC1	462	.	GRCh37	1	173876617	173876617	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	47	125	1	ENST00000367698.3:c.1189T>G	p.Ser397Ala	p.S397A	ENST00000367698	NM_000488.3	397	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS1313.1	1189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGAGACAT	NONE	.	.	hmmpanther:PTHR11461:SF53,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000356671	.	6/7	.	.	.	.	.	.	.	.	CM002222	6/7	PASS	ENST00000367698	Transcript	.	.	ENSG00000117601	775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.514)	.	deleterious(0.01)	.	ANT3_HUMAN	SERPINC1	HGNC	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN	.	UPI000002C0C1	SNV	SERPINC1,missense_variant,p.Ser397Ala,ENST00000367698,;ZBTB37,downstream_gene_variant,,ENST00000367701,;SERPINC1,downstream_gene_variant,,ENST00000494024,;SERPINC1,downstream_gene_variant,,ENST00000487183,;	1308	126	146	SUCCESS
UBR4	23352	.	GRCh37	1	19490752	19490752	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	131	284	0	ENST00000375254.3:c.4695C>T	p.Ser1565=	p.S1565=	ENST00000375254	NM_020765.2	1565	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS189.1	4695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGCTCAG	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR21725	.	.	ENSP00000364403	.	33/106	.	.	.	.	.	.	.	.	.	33/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000417040,;UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	4723	284	196	SUCCESS
C1orf53	388722	.	GRCh37	1	197872017	197872017	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779133381	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	38	0	ENST00000367393.3:c.238G>A	p.Ala80Thr	p.A80T	ENST00000367393	NM_001024594.2	80	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS44290.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGCGGAG	BUFFER|p.A80A|c.240G>T|6,BUFFER|p.A80A|c.240G>T|6	byFrequency	.	hmmpanther:PTHR21037	.	.	ENSP00000356363	.	1/3	.	.	.	.	.	.	.	.	rs779133381	1/3	PASS	ENST00000367393	Transcript	.	.	ENSG00000203724	30003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.324)	.	tolerated(0.39)	.	CA053_HUMAN	C1orf53	HGNC	.	.	UPI00001AFA8A	SNV	C1orf53,missense_variant,p.Ala80Thr,ENST00000367393,;C1orf53,intron_variant,,ENST00000436652,;C1orf53,upstream_gene_variant,,ENST00000542800,;	241	38	55	SUCCESS
RNPEP	6051	.	GRCh37	1	201970854	201970854	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1052128019	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	49	106	0	ENST00000295640.4:c.1385A>G	p.Tyr462Cys	p.Y462C	ENST00000295640	NM_020216.3	462	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1418.1	1385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATATTTCC	NONE	.	.	hmmpanther:PTHR11533:SF153,hmmpanther:PTHR11533,Gene3D:1.10.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000295640	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000295640	Transcript	.	.	ENSG00000176393	10078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0)	.	AMPB_HUMAN	RNPEP	HGNC	.	.	UPI00000463FA	SNV	RNPEP,missense_variant,p.Tyr331Cys,ENST00000447312,;RNPEP,missense_variant,p.Tyr423Cys,ENST00000367286,;RNPEP,missense_variant,p.Tyr462Cys,ENST00000295640,;RNPEP,downstream_gene_variant,,ENST00000449524,;RP11-465N4.4,intron_variant,,ENST00000419190,;RP11-465N4.4,upstream_gene_variant,,ENST00000415582,;RNPEP,non_coding_transcript_exon_variant,,ENST00000464707,;RNPEP,non_coding_transcript_exon_variant,,ENST00000478617,;RNPEP,non_coding_transcript_exon_variant,,ENST00000471105,;RNPEP,non_coding_transcript_exon_variant,,ENST00000479531,;RNPEP,non_coding_transcript_exon_variant,,ENST00000492849,;RNPEP,downstream_gene_variant,,ENST00000479726,;RNPEP,downstream_gene_variant,,ENST00000487116,;RNPEP,downstream_gene_variant,,ENST00000492587,;RNPEP,downstream_gene_variant,,ENST00000481780,;	1428	106	114	SUCCESS
WNT3A	89780	.	GRCh37	1	228238391	228238391	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	51	88	0	ENST00000284523.1:c.348C>A	p.Ala116=	p.A116=	ENST00000284523	NM_033131.3	116	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1564.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCTCAGC	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF88,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000284523	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000284523	Transcript	.	.	ENSG00000154342	15983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT3A_HUMAN	WNT3A	HGNC	.	.	UPI000004F0E2	SNV	WNT3A,synonymous_variant,p.%3D,ENST00000284523,;WNT3A,synonymous_variant,p.%3D,ENST00000366753,;	426	88	104	SUCCESS
ACTN2	88	.	GRCh37	1	236889254	236889254	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	85	1	ENST00000366578.4:c.470T>G	p.Leu157Arg	p.L157R	ENST00000366578	NM_001278344.1	157	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS1613.1	470	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	AGGTCTGCTGC	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Gene3D:1.10.418.10,Pfam_domain:PF00307,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,PROSITE_profiles:PS50021	.	.	ENSP00000355537	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,missense_variant,p.Leu157Arg,ENST00000542672,;ACTN2,missense_variant,p.Leu157Arg,ENST00000366578,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	636	86	121	SUCCESS
PITHD1	57095	.	GRCh37	1	24113847	24113847	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	31	76	0	ENST00000246151.4:c.617A>T	p.Gln206Leu	p.Q206L	ENST00000246151	NM_020362.4	206	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS240.1	617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGACAC	NONE	.	.	hmmpanther:PTHR12175	.	.	ENSP00000246151	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000246151	Transcript	.	.	ENSG00000057757	25022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.07)	.	PITH1_HUMAN	PITHD1	HGNC	B4DKP7_HUMAN	.	UPI000006E2EA	SNV	PITHD1,missense_variant,p.Gln206Leu,ENST00000246151,;PITHD1,missense_variant,p.Gln93Leu,ENST00000374524,;LYPLA2,upstream_gene_variant,,ENST00000400061,;LYPLA2,upstream_gene_variant,,ENST00000421070,;LYPLA2,upstream_gene_variant,,ENST00000420982,;LYPLA2,upstream_gene_variant,,ENST00000374503,;LYPLA2,upstream_gene_variant,,ENST00000374514,;LYPLA2,upstream_gene_variant,,ENST00000374502,;LYPLA2,upstream_gene_variant,,ENST00000374505,;PITHD1,downstream_gene_variant,,ENST00000415372,;LYPLA2,upstream_gene_variant,,ENST00000492577,;LYPLA2,upstream_gene_variant,,ENST00000495365,;	728	76	46	SUCCESS
GRIK3	2899	.	GRCh37	1	37291402	37291403	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs1226469622	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	96	0	ENST00000373091.3:c.1555dup	p.Leu519ProfsTer72	p.L519Pfs*72	ENST00000373091	NM_000831.3	519	ctg/cCtg	0	.	.	.	.	.	G	L/PX	protein_coding	YES	CCDS416.1	1555-1556	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTCAGGGGG	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Gene3D:3.40.190.10,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	.	.	ENSP00000362183	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000373091	Transcript	.	.	ENSG00000163873	4581	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRIK3_HUMAN	GRIK3	HGNC	Q96SC0_HUMAN	.	UPI000013E311	insertion	GRIK3,frameshift_variant,p.Leu519ProfsTer72,ENST00000373093,;GRIK3,frameshift_variant,p.Leu519ProfsTer72,ENST00000373091,;	1572-1573	96	73	SUCCESS
RLF	6018	.	GRCh37	1	40701785	40701785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	51	103	0	ENST00000372771.4:c.1411G>T	p.Asp471Tyr	p.D471Y	ENST00000372771	NM_012421.3	471	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS448.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGACTGG	NONE	.	.	hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507	.	.	ENSP00000361857	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372771	Transcript	.	.	ENSG00000117000	10025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,missense_variant,p.Asp471Tyr,ENST00000372771,;	1438	103	75	SUCCESS
SZT2	23334	.	GRCh37	1	43916134	43916134	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs75906384	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	36	107	0	ENST00000562955.1:c.10111T>G	p.Trp3371Gly	p.W3371G	ENST00000562955	NM_015284.3	3371	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS30694.2	10111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTGGACC	NONE	suspect|byCluster	.	hmmpanther:PTHR14918	.	.	ENSP00000457168	.	71/71	.	.	.	.	.	.	.	.	rs75906384	71/71	PASS	ENST00000562955	Transcript	.	.	ENSG00000198198	29040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SZT2_HUMAN	SZT2	HGNC	.	.	UPI0001E24F46	SNV	SZT2,missense_variant,p.Trp2529Gly,ENST00000372442,;SZT2,missense_variant,p.Trp3371Gly,ENST00000562955,;HYI,downstream_gene_variant,,ENST00000487366,;HYI,downstream_gene_variant,,ENST00000372425,;HYI,downstream_gene_variant,,ENST00000486909,;HYI,downstream_gene_variant,,ENST00000583037,;HYI,downstream_gene_variant,,ENST00000372434,;HYI,downstream_gene_variant,,ENST00000372433,;HYI,downstream_gene_variant,,ENST00000470662,;HYI,downstream_gene_variant,,ENST00000372430,;HYI,downstream_gene_variant,,ENST00000372432,;HYI,downstream_gene_variant,,ENST00000372426,;SZT2-AS1,upstream_gene_variant,,ENST00000396885,;HYI-AS1,upstream_gene_variant,,ENST00000444386,;SZT2,non_coding_transcript_exon_variant,,ENST00000460536,;HYI,downstream_gene_variant,,ENST00000483618,;HYI,downstream_gene_variant,,ENST00000469587,;HYI,downstream_gene_variant,,ENST00000496142,;HYI,downstream_gene_variant,,ENST00000372427,;	10111	107	60	SUCCESS
COL24A1	255631	.	GRCh37	1	86426957	86426957	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748650963	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	112	194	0	ENST00000370571.2:c.2537G>T	p.Gly846Val	p.G846V	ENST00000370571	NM_152890.5	846	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41353.1	2537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCCTTGA	NONE	byFrequency	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000359603	.	24/60	.	.	.	.	.	.	.	.	rs748650963	24/60	PASS	ENST00000370571	Transcript	.	.	ENSG00000171502	20821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COOA1_HUMAN	COL24A1	HGNC	E9PNK8_HUMAN	.	UPI000013E81F	SNV	COL24A1,missense_variant,p.Gly846Val,ENST00000436319,;COL24A1,missense_variant,p.Gly846Val,ENST00000370571,;COL24A1,missense_variant,p.Gly846Val,ENST00000426639,;	2904	194	163	SUCCESS
NSFL1C	55968	.	GRCh37	20	1447368	1447368	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	69	94	0	ENST00000216879.4:c.102G>A	p.Leu34=	p.L34=	ENST00000216879	NM_016143.4	34	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS56175.1	102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCAAGTC	NONE	.	.	hmmpanther:PTHR23333:SF24,hmmpanther:PTHR23333,Pfam_domain:PF14555,Gene3D:1.10.8.10,Superfamily_domains:SSF46934	.	.	ENSP00000418529	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000476071	Transcript	.	.	ENSG00000088833	15912	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSF1C_HUMAN	NSFL1C	HGNC	G3V4V8_HUMAN	.	UPI0000232DEC	SNV	NSFL1C,synonymous_variant,p.%3D,ENST00000353088,;NSFL1C,synonymous_variant,p.%3D,ENST00000350991,;NSFL1C,synonymous_variant,p.%3D,ENST00000216879,;NSFL1C,synonymous_variant,p.%3D,ENST00000476071,;NSFL1C,5_prime_UTR_variant,,ENST00000381658,;NSFL1C,intron_variant,,ENST00000553571,;NSFL1C,synonymous_variant,p.%3D,ENST00000489203,;NSFL1C,synonymous_variant,p.%3D,ENST00000470376,;NSFL1C,synonymous_variant,p.%3D,ENST00000555944,;NSFL1C,synonymous_variant,p.%3D,ENST00000555568,;NSFL1C,synonymous_variant,p.%3D,ENST00000381653,;NSFL1C,non_coding_transcript_exon_variant,,ENST00000478168,;NSFL1C,non_coding_transcript_exon_variant,,ENST00000487086,;NSFL1C,non_coding_transcript_exon_variant,,ENST00000555359,;SIRPB2,downstream_gene_variant,,ENST00000481731,;	196	94	144	SUCCESS
THBD	7056	.	GRCh37	20	23029882	23029882	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	35	128	0	ENST00000377103.2:c.260G>A	p.Trp87Ter	p.W87*	ENST00000377103	NM_000361.2	87	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS13148.1	260	RADIA|MUTECT|MUSE|VARSCANS	.	CGATCCAGAGG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24036,hmmpanther:PTHR24036:SF5,Gene3D:3.10.100.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000366307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377103	Transcript	1	.	ENSG00000178726	11784	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRBM_HUMAN	THBD	HGNC	.	.	UPI00000002BD	SNV	THBD,stop_gained,p.Trp87Ter,ENST00000377103,;	497	128	181	SUCCESS
ASXL1	171023	.	GRCh37	20	31016225	31016225	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	12	104	0	ENST00000375687.4:c.471G>A		p.X157_splice	ENST00000375687	NM_015338.5	157	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS13201.1	471	MUTECT|MUSE|VARSCANS	.	TCACAGGTAAG	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,synonymous_variant,p.%3D,ENST00000375687,;ASXL1,synonymous_variant,p.%3D,ENST00000306058,;ASXL1,3_prime_UTR_variant,,ENST00000542461,;ASXL1,upstream_gene_variant,,ENST00000553345,;ASXL1,splice_region_variant,,ENST00000470145,;ASXL1,upstream_gene_variant,,ENST00000555564,;	895	104	141	SUCCESS
NCOA6	23054	.	GRCh37	20	33329620	33329620	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	46	107	1	ENST00000359003.2:c.4440G>C	p.Val1480=	p.V1480=	ENST00000359003	NM_014071.3	1480	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS13241.1	4440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACACCAA	NONE	.	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,synonymous_variant,p.%3D,ENST00000374796,;NCOA6,synonymous_variant,p.%3D,ENST00000359003,;	7011	108	155	SUCCESS
B4GALT5	9334	.	GRCh37	20	48252994	48252994	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs1381169339	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	43	111	0	ENST00000371711.4:c.1022A>T	p.Tyr341Phe	p.Y341F	ENST00000371711	NM_004776.3	341	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS13420.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCATACCTG	NONE	.	.	hmmpanther:PTHR19300:SF37,hmmpanther:PTHR19300,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000360776	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371711	Transcript	.	.	ENSG00000158470	928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(1)	.	B4GT5_HUMAN	B4GALT5	HGNC	Q7LFU8_HUMAN	.	UPI0000126720	SNV	B4GALT5,missense_variant,p.Tyr341Phe,ENST00000371711,;	1210	111	122	SUCCESS
ADNP	23394	.	GRCh37	20	49510256	49510256	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs372148600	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	57	1	ENST00000349014.3:c.995A>G	p.Tyr332Cys	p.Y332C	ENST00000349014	NM_001282532.1	332	tAt/tGt	0	A:0	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13433.1	995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATAGTTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740	.	A:0.0001	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	rs372148600	5/5	PASS	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.76)	.	deleterious(0.04)	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	SNV	ADNP,missense_variant,p.Tyr332Cys,ENST00000396032,;ADNP,missense_variant,p.Tyr332Cys,ENST00000396029,;ADNP,missense_variant,p.Tyr332Cys,ENST00000349014,;ADNP,missense_variant,p.Tyr332Cys,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	1563	58	81	SUCCESS
ZNF831	128611	.	GRCh37	20	57769575	57769575	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	93	0	ENST00000371030.2:c.3501C>T	p.Pro1167=	p.P1167=	ENST00000371030	NM_178457.2	1167	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42894.1	3501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCCCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	3501	93	111	SUCCESS
RBBP8NL	140893	.	GRCh37	20	60987760	60987760	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1486166637	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	26	0	ENST00000252998.1:c.1796G>A	p.Gly599Glu	p.G599E	ENST00000252998	NM_080833.2	599	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS13498.1	1796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCCCTCC	NONE	.	.	hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1	.	.	ENSP00000252998	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000252998	Transcript	.	.	ENSG00000130701	16144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.18)	.	RB8NL_HUMAN	RBBP8NL	HGNC	.	.	UPI000013CDA2	SNV	RBBP8NL,missense_variant,p.Gly599Glu,ENST00000252998,;	1953	26	40	SUCCESS
NKAIN4	128414	.	GRCh37	20	61881390	61881390	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	33	142	0	ENST00000370316.3:c.89T>C	p.Leu30Pro	p.L30P	ENST00000370316	NM_152864.3	30	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS13514.1	89	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCAGGAAG	NONE	.	.	Pfam_domain:PF05640,hmmpanther:PTHR13084:SF5,hmmpanther:PTHR13084,Transmembrane_helices:TMhelix	.	.	ENSP00000359340	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000370316	Transcript	.	.	ENSG00000101198	16191	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NKAI4_HUMAN	NKAIN4	HGNC	A6NNM2_HUMAN	.	UPI000013C71B	SNV	NKAIN4,missense_variant,p.Leu30Pro,ENST00000370316,;NKAIN4,5_prime_UTR_variant,,ENST00000370307,;NKAIN4,5_prime_UTR_variant,,ENST00000370313,;NKAIN4,upstream_gene_variant,,ENST00000370317,;NKAIN4,upstream_gene_variant,,ENST00000472670,;NKAIN4,upstream_gene_variant,,ENST00000466885,;NKAIN4,upstream_gene_variant,,ENST00000470246,;NKAIN4,non_coding_transcript_exon_variant,,ENST00000486495,;NKAIN4,upstream_gene_variant,,ENST00000461738,;	179	142	211	SUCCESS
CLDN17	26285	.	GRCh37	21	31538490	31538490	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1433746016	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	35	69	0	ENST00000286808.3:c.446A>G	p.Tyr149Cys	p.Y149C	ENST00000286808	NM_012131.2	149	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13586.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTAGAAA	NONE	.	.	Pfam_domain:PF00822,hmmpanther:PTHR12002:SF75,hmmpanther:PTHR12002	.	.	ENSP00000286808	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286808	Transcript	.	.	ENSG00000156282	2038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CLD17_HUMAN	CLDN17	HGNC	.	.	UPI000004E655	SNV	CLDN17,missense_variant,p.Tyr149Cys,ENST00000286808,;	482	69	53	SUCCESS
TRAPPC10	7109	.	GRCh37	21	45507598	45507598	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759992126	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	43	0	ENST00000291574.4:c.2558C>T	p.Ala853Val	p.A853V	ENST00000291574	NM_003274.4	853	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13704.1	2558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGCGCTCC	NONE	byFrequency	.	hmmpanther:PTHR13251	.	.	ENSP00000291574	.	17/23	.	.	.	.	.	.	.	.	rs759992126	17/23	PASS	ENST00000291574	Transcript	.	.	ENSG00000160218	11868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.45)	.	TPC10_HUMAN	TRAPPC10	HGNC	Q76NH5_HUMAN	.	UPI0000129E26	SNV	TRAPPC10,missense_variant,p.Ala853Val,ENST00000291574,;TRAPPC10,upstream_gene_variant,,ENST00000486746,;TRAPPC10,upstream_gene_variant,,ENST00000483973,;TRAPPC10,upstream_gene_variant,,ENST00000465905,;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,downstream_gene_variant,,ENST00000481460,;TRAPPC10,upstream_gene_variant,,ENST00000485621,;TRAPPC10,upstream_gene_variant,,ENST00000469521,;TRAPPC10,downstream_gene_variant,,ENST00000461889,;TRAPPC10,upstream_gene_variant,,ENST00000459741,;	2733	43	21	SUCCESS
COL18A1	80781	.	GRCh37	21	46875463	46875472	+	frameshift_variant	Frame_Shift_Del	DEL	GGCTGCCACA	GGCTGCCACA	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	GGCTGCCACA	GGCTGCCACA	.	.	.	.	.	.	.	.	.	.	.	.	.	12	25	72	0	ENST00000359759.4:c.19_28del	p.Gly7SerfsTer17	p.G7Sfs*17	ENST00000359759		7	GGCTGCCACAtc/tc	0	.	.	.	.	.	-	GCHI/X	protein_coding	YES	CCDS42972.1	19-28	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTGTGGCTGCCACATCCTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000347665	.	1/41	.	.	.	.	.	.	.	.	.	1/41	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	deletion	COL18A1,frameshift_variant,p.Gly7SerfsTer17,ENST00000359759,;COL18A1,frameshift_variant,p.Gly7SerfsTer17,ENST00000355480,;COL18A1,intron_variant,,ENST00000400337,;	61-70	72	37	SUCCESS
COL18A1	80781	.	GRCh37	21	46888580	46888597	+	inframe_deletion	In_Frame_Del	DEL	CGTGGACTGTGAGGAGTT	CGTGGACTGTGAGGAGTT	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	CGTGGACTGTGAGGAGTT	CGTGGACTGTGAGGAGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	51	0	ENST00000359759.4:c.1777_1794del	p.Val593_Phe598del	p.V593_F598del	ENST00000359759		592	taCGTGGACTGTGAGGAGTTc/tac	0	.	.	.	.	.	-	YVDCEEF/Y	protein_coding	YES	CCDS42972.1	1071-1088	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCTACGTGGACTGTGAGGAGTTCCAGA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390,Pfam_domain:PF13385,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000347665	.	2/41	.	.	.	.	.	.	.	.	.	2/41	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	deletion	COL18A1,inframe_deletion,p.Val593_Phe598del,ENST00000359759,;COL18A1,inframe_deletion,p.Val358_Phe363del,ENST00000355480,;COL18A1,inframe_deletion,p.Val178_Phe183del,ENST00000400337,;	1113-1130	51	28	SUCCESS
MCM3AP	8888	.	GRCh37	21	47666731	47666731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	80	147	0	ENST00000291688.1:c.4360A>T	p.Ser1454Cys	p.S1454C	ENST00000291688	NM_003906.3	1454	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS13734.1	4360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACTGGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12436:SF18,hmmpanther:PTHR12436	.	.	ENSP00000380820	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000397708	Transcript	.	.	ENSG00000160294	6946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GANP_HUMAN	MCM3AP	HGNC	N0GVG8_HUMAN,B3KWZ4_HUMAN	.	UPI000012ED4A	SNV	MCM3AP,missense_variant,p.Ser1454Cys,ENST00000397708,;MCM3AP,missense_variant,p.Ser1454Cys,ENST00000291688,;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,intron_variant,,ENST00000414659,;MCM3AP-AS1,intron_variant,,ENST00000455567,;AP001469.9,downstream_gene_variant,,ENST00000447037,;MCM3AP-AS1,downstream_gene_variant,,ENST00000591223,;MCM3AP-AS1,downstream_gene_variant,,ENST00000432735,;MCM3AP-AS1,downstream_gene_variant,,ENST00000588753,;MCM3AP-AS1,downstream_gene_variant,,ENST00000444998,;AP001469.7,upstream_gene_variant,,ENST00000444966,;AP001469.9,downstream_gene_variant,,ENST00000430259,;MCM3AP-AS1,downstream_gene_variant,,ENST00000421927,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000467026,;MCM3AP,downstream_gene_variant,,ENST00000481113,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;	4615	147	113	SUCCESS
C22orf29	0	.	GRCh37	22	19839277	19839277	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144116940	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	64	0	ENST00000405640.1:c.508C>T	p.Leu170Phe	p.L170F	ENST00000405640		170	Ctc/Ttc	0	A:0	.	.	.	.	A	L/F	protein_coding	YES	CCDS13769.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGCTCGT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15503:SF4,hmmpanther:PTHR15503	.	A:0.0001	ENSP00000384924	.	2/2	.	.	.	.	.	.	.	.	rs144116940	2/2	PASS	ENST00000405640	Transcript	.	.	ENSG00000215012	26112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.2)	.	BOP_HUMAN	C22orf29	HGNC	C9J0V4_HUMAN	.	UPI0000207B8F	SNV	C22orf29,missense_variant,p.Leu170Phe,ENST00000407472,;C22orf29,missense_variant,p.Leu170Phe,ENST00000328554,;C22orf29,missense_variant,p.Leu170Phe,ENST00000405640,;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000329517,;C22orf29,downstream_gene_variant,,ENST00000416337,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;C22orf29,intron_variant,,ENST00000484072,;	1177	64	86	SUCCESS
SUSD2	56241	.	GRCh37	22	24583203	24583203	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	41	0	ENST00000358321.3:c.1676T>C	p.Val559Ala	p.V559A	ENST00000358321	NM_019601.3	559	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13824.1	1676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTCTCCA	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS51233	.	.	ENSP00000351075	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.4)	.	deleterious(0.03)	.	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,missense_variant,p.Val559Ala,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	1937	41	42	SUCCESS
MN1	4330	.	GRCh37	22	28195917	28195917	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	5	71	0	ENST00000302326.4:c.615C>G	p.Gly205=	p.G205=	ENST00000302326	NM_002430.2	205	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS42998.1	615	MUTECT|MUSE	.	GGCAGGCCGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15821	.	.	ENSP00000304956	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302326	Transcript	.	.	ENSG00000169184	7180	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MN1_HUMAN	MN1	HGNC	A5HML1_HUMAN	.	UPI0000207445	SNV	MN1,synonymous_variant,p.%3D,ENST00000302326,;MN1,upstream_gene_variant,,ENST00000424656,;	1570	71	102	SUCCESS
SEPT3	0	.	GRCh37	22	42387581	42387581	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs868245028	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	45	94	0	ENST00000396426.3:c.674G>A	p.Arg225His	p.R225H	ENST00000396426	NM_145733.2	225	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14026.2	674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCGCAAGG	NONE	.	.	PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF62,Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540	.	.	ENSP00000379704	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000396426	Transcript	.	.	ENSG00000100167	10750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.3)	.	deleterious(0.02)	.	SEPT3_HUMAN	SEPT3	HGNC	B1AHR2_HUMAN	.	UPI000067DA91	SNV	SEPT3,missense_variant,p.Arg225His,ENST00000396425,;SEPT3,missense_variant,p.Arg225His,ENST00000396426,;SEPT3,missense_variant,p.Arg161His,ENST00000291236,;SEPT3,missense_variant,p.Arg161His,ENST00000406029,;SEPT3,3_prime_UTR_variant,,ENST00000328414,;SEPT3,downstream_gene_variant,,ENST00000449288,;SEPT3,splice_region_variant,,ENST00000396417,;SEPT3,downstream_gene_variant,,ENST00000460267,;	929	94	86	SUCCESS
PNPLA3	80339	.	GRCh37	22	44328798	44328798	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs145567197	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	62	190	1	ENST00000216180.3:c.527T>G	p.Ile176Ser	p.I176S	ENST00000216180	NM_025225.2	176	aTt/aGt	0	C:0.0025	C:0.0015	.	C:0	.	G	I/S	protein_coding	YES	CCDS14054.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATTGATG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF22,Pfam_domain:PF01734,Superfamily_domains:SSF52151	C:0	C:0	ENSP00000216180	C:0	4/9	.	.	.	.	.	.	.	.	rs145567197	4/9	PASS	ENST00000216180	Transcript	.	C:0.0004	ENSG00000100344	18590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	C:0	tolerated(0.63)	.	PLPL3_HUMAN	PNPLA3	HGNC	U3N901_HUMAN	.	UPI000006CED5	SNV	PNPLA3,missense_variant,p.Ile176Ser,ENST00000216180,;PNPLA3,missense_variant,p.Ile172Ser,ENST00000423180,;PNPLA3,non_coding_transcript_exon_variant,,ENST00000478713,;PNPLA3,upstream_gene_variant,,ENST00000497129,;PNPLA3,3_prime_UTR_variant,,ENST00000406117,;	700	192	196	SUCCESS
CRELD2	79174	.	GRCh37	22	50316312	50316312	+	synonymous_variant	Silent	SNP	C	C	T	rs777489583	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	71	0	ENST00000328268.4:c.645C>T	p.Gly215=	p.G215=	ENST00000328268	NM_024324.3	215	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46730.1	792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGCGAGTG	NONE	.	.	hmmpanther:PTHR24838:SF252,hmmpanther:PTHR24838,SMART_domains:SM00261,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000383938	.	7/11	.	.	.	.	.	.	.	.	rs777489583	7/11	PASS	ENST00000404488	Transcript	.	.	ENSG00000184164	28150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CREL2_HUMAN	CRELD2	HGNC	.	.	UPI0000E56EE9	SNV	CRELD2,synonymous_variant,p.%3D,ENST00000407217,;CRELD2,synonymous_variant,p.%3D,ENST00000328268,;CRELD2,synonymous_variant,p.%3D,ENST00000403427,;CRELD2,synonymous_variant,p.%3D,ENST00000404488,;CRELD2,synonymous_variant,p.%3D,ENST00000450207,;ALG12,upstream_gene_variant,,ENST00000330817,;CRELD2,non_coding_transcript_exon_variant,,ENST00000444954,;CRELD2,non_coding_transcript_exon_variant,,ENST00000462253,;CRELD2,downstream_gene_variant,,ENST00000498354,;CRELD2,non_coding_transcript_exon_variant,,ENST00000483652,;CRELD2,non_coding_transcript_exon_variant,,ENST00000482956,;CRELD2,upstream_gene_variant,,ENST00000487969,;	927	71	51	SUCCESS
PLEKHB2	55041	.	GRCh37	2	131890529	131890529	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776552633	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	119	168	0	ENST00000409279.1:c.388C>T	p.Pro130Ser	p.P130S	ENST00000409279		130	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS58730.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCCACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14309,hmmpanther:PTHR14309:SF8	.	.	ENSP00000386410	.	6/8	.	.	.	.	.	.	.	.	rs776552633	6/8	PASS	ENST00000409158	Transcript	.	.	ENSG00000115762	19236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.1)	.	PKHB2_HUMAN	PLEKHB2	HGNC	.	.	UPI0000EE817E	SNV	PLEKHB2,missense_variant,p.Pro130Ser,ENST00000403716,;PLEKHB2,missense_variant,p.Pro82Ser,ENST00000538982,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000438882,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000409612,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000409158,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000404460,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000234115,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000303908,;PLEKHB2,missense_variant,p.Pro130Ser,ENST00000409279,;PLEKHB2,intron_variant,,ENST00000439822,;	948	168	209	SUCCESS
R3HDM1	23518	.	GRCh37	2	136389287	136389287	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	95	0	ENST00000264160.4:c.498-1G>A		p.X166_splice	ENST00000264160	NM_015361.2	166		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2177.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGGGACA	NONE	.	.	.	.	.	ENSP00000264160	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264160	Transcript	.	.	ENSG00000048991	9757	.	.	HIGH	7/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HD1_HUMAN	R3HDM1	HGNC	Q53SQ1_HUMAN,Q4ZG59_HUMAN	.	UPI000007456C	SNV	R3HDM1,splice_acceptor_variant,,ENST00000436436,;R3HDM1,splice_acceptor_variant,,ENST00000409478,;R3HDM1,splice_acceptor_variant,,ENST00000264160,;R3HDM1,splice_acceptor_variant,,ENST00000456040,;R3HDM1,splice_acceptor_variant,,ENST00000410054,;R3HDM1,splice_acceptor_variant,,ENST00000409606,;R3HDM1,splice_acceptor_variant,,ENST00000329971,;R3HDM1,splice_acceptor_variant,,ENST00000488035,;R3HDM1,splice_acceptor_variant,,ENST00000480793,;R3HDM1,upstream_gene_variant,,ENST00000486532,;	.	95	102	SUCCESS
SLC38A11	151258	.	GRCh37	2	165754999	165754999	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	48	219	2	ENST00000409149.3:c.1169A>G	p.His390Arg	p.H390R	ENST00000409149	NM_001199148.1	390	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS56142.1	1169	RADIA|VARSCANS	.	GAACATGAGAC	NONE	.	.	.	.	.	ENSP00000386272	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000409149	Transcript	.	.	ENSG00000169507	26836	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.44)	.	S38AB_HUMAN	SLC38A11	HGNC	.	.	UPI0000E44805	SNV	SLC38A11,missense_variant,p.His390Arg,ENST00000409149,;SLC38A11,missense_variant,p.His390Arg,ENST00000409662,;SLC38A11,missense_variant,p.His421Arg,ENST00000409058,;SLC38A11,missense_variant,p.His368Arg,ENST00000303735,;SLC38A11,downstream_gene_variant,,ENST00000424914,;RNA5SP111,upstream_gene_variant,,ENST00000411386,;SLC38A11,downstream_gene_variant,,ENST00000483641,;SLC38A11,downstream_gene_variant,,ENST00000470576,;	1461	221	207	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209188869	209188869	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	33	91	0	ENST00000264380.4:c.2194A>G	p.Arg732Gly	p.R732G	ENST00000264380	NM_015040.3	732	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS2382.1	2194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAAGGGAA	NONE	.	.	Superfamily_domains:SSF52029,Pfam_domain:PF00118,Gene3D:3.50.7.10,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	.	.	ENSP00000264380	.	18/42	.	.	.	.	.	.	.	.	.	18/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,missense_variant,p.Arg676Gly,ENST00000452564,;PIKFYVE,missense_variant,p.Arg732Gly,ENST00000264380,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	2352	91	135	SUCCESS
ERBB4	2066	.	GRCh37	2	212537964	212537964	+	synonymous_variant	Silent	SNP	C	C	T	rs761145883	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	62	0	ENST00000342788.4:c.1641G>A	p.Glu547=	p.E547=	ENST00000342788	NM_005235.2	547	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS2394.1	1641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTCAAA	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF14843,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184	.	.	ENSP00000342235	.	14/28	.	.	.	.	.	.	.	.	rs761145883	14/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,synonymous_variant,p.%3D,ENST00000402597,;ERBB4,synonymous_variant,p.%3D,ENST00000436443,;ERBB4,synonymous_variant,p.%3D,ENST00000260943,;ERBB4,synonymous_variant,p.%3D,ENST00000342788,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	1952	62	69	SUCCESS
TUBA4A	7277	.	GRCh37	2	220115164	220115164	+	synonymous_variant	Silent	SNP	G	G	A	rs199590938	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	90	188	0	ENST00000248437.4:c.1257C>T	p.Ser419=	p.S419=	ENST00000248437	NM_006000.2	419	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2438.1	1257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGGAGAA	NONE	byCluster	.	Superfamily_domains:SSF55307,Gene3D:1.10.287.600,hmmpanther:PTHR11588:SF75,hmmpanther:PTHR11588	.	.	ENSP00000248437	.	4/4	.	.	.	.	.	.	.	.	rs199590938	4/4	PASS	ENST00000248437	Transcript	.	.	ENSG00000127824	12407	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBA4A_HUMAN	TUBA4A	HGNC	C9JQ00_HUMAN,C9JEV8_HUMAN,C9JDS9_HUMAN,A8MUB1_HUMAN	.	UPI0000004129	SNV	TUBA4A,synonymous_variant,p.%3D,ENST00000392088,;TUBA4A,synonymous_variant,p.%3D,ENST00000248437,;STK16,downstream_gene_variant,,ENST00000409516,;STK16,downstream_gene_variant,,ENST00000409260,;TUBA4A,downstream_gene_variant,,ENST00000427737,;STK16,downstream_gene_variant,,ENST00000409743,;GLB1L,upstream_gene_variant,,ENST00000295759,;STK16,downstream_gene_variant,,ENST00000409638,;GLB1L,upstream_gene_variant,,ENST00000424620,;TUBA4A,downstream_gene_variant,,ENST00000425551,;TUBA4A,downstream_gene_variant,,ENST00000456818,;TUBA4A,downstream_gene_variant,,ENST00000398989,;STK16,downstream_gene_variant,,ENST00000396738,;GLB1L,upstream_gene_variant,,ENST00000392089,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4B,upstream_gene_variant,,ENST00000485041,;STK16,downstream_gene_variant,,ENST00000486813,;TUBA4A,downstream_gene_variant,,ENST00000498660,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000473885,;STK16,downstream_gene_variant,,ENST00000496443,;TUBA4A,downstream_gene_variant,,ENST00000462806,;STK16,downstream_gene_variant,,ENST00000475696,;TUBA4A,downstream_gene_variant,,ENST00000475683,;STK16,downstream_gene_variant,,ENST00000475342,;STK16,downstream_gene_variant,,ENST00000478018,;STK16,downstream_gene_variant,,ENST00000461417,;STK16,downstream_gene_variant,,ENST00000496800,;STK16,downstream_gene_variant,,ENST00000491697,;	1431	188	173	SUCCESS
CHPF	79586	.	GRCh37	2	220404725	220404725	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775762046	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	68	124	0	ENST00000243776.6:c.1708G>A	p.Val570Met	p.V570M	ENST00000243776	NM_024536.5	570	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS2443.1	1708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACGTGGG	NONE	.	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000243776	.	4/4	.	.	.	.	.	.	.	.	rs775762046	4/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0.01)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Val570Met,ENST00000243776,;CHPF,missense_variant,p.Val408Met,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	1957	124	127	SUCCESS
SLC4A3	6508	.	GRCh37	2	220502422	220502422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	51	169	0	ENST00000317151.3:c.2655C>A	p.Ser885Arg	p.S885R	ENST00000317151		885	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS2446.1	2736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCCGAG	NONE	.	.	TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15	.	.	ENSP00000362867	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.44)	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,missense_variant,p.Ser885Arg,ENST00000373760,;SLC4A3,missense_variant,p.Ser912Arg,ENST00000273063,;SLC4A3,missense_variant,p.Ser885Arg,ENST00000317151,;SLC4A3,missense_variant,p.Ser885Arg,ENST00000358055,;SLC4A3,missense_variant,p.Ser912Arg,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	3005	169	168	SUCCESS
SLC16A14	151473	.	GRCh37	2	230924025	230924025	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1388118440	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	74	141	0	ENST00000295190.4:c.44G>A	p.Gly15Asp	p.G15D	ENST00000295190	NM_152527.4	15	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2473.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCATCT	NONE	.	.	hmmpanther:PTHR11360:SF121,hmmpanther:PTHR11360	.	.	ENSP00000295190	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000295190	Transcript	.	.	ENSG00000163053	26417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	MOT14_HUMAN	SLC16A14	HGNC	C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN	.	UPI000004EE99	SNV	SLC16A14,missense_variant,p.Gly15Asp,ENST00000412034,;SLC16A14,missense_variant,p.Gly15Asp,ENST00000457406,;SLC16A14,missense_variant,p.Gly15Asp,ENST00000436869,;SLC16A14,missense_variant,p.Gly15Asp,ENST00000295190,;SLC16A14,missense_variant,p.Gly15Asp,ENST00000425822,;RNY4P19,upstream_gene_variant,,ENST00000362530,;	503	141	138	SUCCESS
KCNK3	3777	.	GRCh37	2	26951035	26951035	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1244344621	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	35	0	ENST00000302909.3:c.784G>A	p.Ala262Thr	p.A262T	ENST00000302909	NM_002246.2	262	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1727.1	784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCGCGCTG	NONE	.	.	hmmpanther:PTHR11003:SF101,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01584	.	.	ENSP00000306275	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302909	Transcript	.	.	ENSG00000171303	6278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0.03)	.	KCNK3_HUMAN	KCNK3	HGNC	B9EIJ4_HUMAN	.	UPI00000422B1	SNV	KCNK3,missense_variant,p.Ala262Thr,ENST00000302909,;	909	35	65	SUCCESS
UCN	7349	.	GRCh37	2	27530547	27530547	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	709	217	908	0	ENST00000296099.2:c.217C>A	p.Leu73Ile	p.L73I	ENST00000296099	NM_003353.2	73	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1747.1	217	RADIA|SOMATICSNIPER|VARSCANS	.	CCCGAGTCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15035	.	.	ENSP00000296099	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000296099	Transcript	.	.	ENSG00000163794	12516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated_low_confidence(0.39)	.	UCN1_HUMAN	UCN	HGNC	.	.	UPI000003284B	SNV	UCN,missense_variant,p.Leu73Ile,ENST00000296099,;MPV17,downstream_gene_variant,,ENST00000405076,;MPV17,downstream_gene_variant,,ENST00000380044,;MPV17,downstream_gene_variant,,ENST00000435114,;MPV17,downstream_gene_variant,,ENST00000402722,;MPV17,downstream_gene_variant,,ENST00000357186,;MPV17,downstream_gene_variant,,ENST00000403262,;MPV17,downstream_gene_variant,,ENST00000233545,;MPV17,downstream_gene_variant,,ENST00000402310,;MPV17,downstream_gene_variant,,ENST00000430991,;TRIM54,downstream_gene_variant,,ENST00000296098,;MPV17,downstream_gene_variant,,ENST00000428910,;MPV17,downstream_gene_variant,,ENST00000405983,;TRIM54,downstream_gene_variant,,ENST00000380075,;MPV17,downstream_gene_variant,,ENST00000475085,;MPV17,downstream_gene_variant,,ENST00000481575,;MPV17,downstream_gene_variant,,ENST00000497981,;TRIM54,downstream_gene_variant,,ENST00000485306,;MPV17,downstream_gene_variant,,ENST00000495429,;MPV17,downstream_gene_variant,,ENST00000492879,;TRIM54,downstream_gene_variant,,ENST00000488321,;MPV17,downstream_gene_variant,,ENST00000426513,;MPV17,downstream_gene_variant,,ENST00000415514,;MPV17,downstream_gene_variant,,ENST00000489478,;	516	908	927	SUCCESS
TRABD2A	129293	.	GRCh37	2	85066420	85066420	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	70	165	1	ENST00000409520.2:c.844C>T	p.Pro282Ser	p.P282S	ENST00000409520	NM_001277053.1	282	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS46349.1	697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGTAGCG	NONE	.	.	hmmpanther:PTHR31120,hmmpanther:PTHR31120:SF4	.	.	ENSP00000335004	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000335459	Transcript	.	.	ENSG00000186854	27013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.432)	.	tolerated(0.24)	.	TIKI1_HUMAN	TRABD2A	HGNC	.	.	UPI000058F1DB	SNV	TRABD2A,missense_variant,p.Pro233Ser,ENST00000335459,;TRABD2A,missense_variant,p.Pro282Ser,ENST00000409520,;TRABD2A,missense_variant,p.Pro282Ser,ENST00000409133,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000496500,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000460991,;TRABD2A,upstream_gene_variant,,ENST00000479944,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000495990,;	903	166	162	SUCCESS
GGCX	2677	.	GRCh37	2	85779044	85779059	+	frameshift_variant	Frame_Shift_Del	DEL	GGATGTGCGCTGAAAG	GGATGTGCGCTGAAAG	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	GGATGTGCGCTGAAAG	GGATGTGCGCTGAAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	95	0	ENST00000233838.4:c.1485_1500del	p.Phe496GlyfsTer6	p.F496Gfs*6	ENST00000233838	NM_000821.5	495	ccCTTTCAGCGCACATCC/cc	0	.	.	.	.	.	-	PFQRTS/X	protein_coding	YES	CCDS1978.1	1485-1500	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCCAGGATGTGCGCTGAAAGGGTGA	NONE	.	.	hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639,Pfam_domain:PF05090	.	.	ENSP00000233838	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000233838	Transcript	.	.	ENSG00000115486	4247	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VKGC_HUMAN	GGCX	HGNC	.	.	UPI0000000DD6	deletion	GGCX,frameshift_variant,p.Phe496GlyfsTer6,ENST00000233838,;GGCX,frameshift_variant,p.Phe439GlyfsTer6,ENST00000430215,;GGCX,intron_variant,,ENST00000465637,;GGCX,downstream_gene_variant,,ENST00000473665,;GGCX,downstream_gene_variant,,ENST00000482662,;GGCX,downstream_gene_variant,,ENST00000423570,;GGCX,downstream_gene_variant,,ENST00000428479,;GGCX,downstream_gene_variant,,ENST00000421496,;	1566-1581	95	81	SUCCESS
ASAP2	8853	.	GRCh37	2	9533683	9533683	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	105	1	ENST00000281419.3:c.2591G>C	p.Ser864Thr	p.S864T	ENST00000281419	NM_003887.2	864	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS1661.1	2591	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAGCAAGC	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238	.	.	ENSP00000281419	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000281419	Transcript	.	.	ENSG00000151693	2721	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	tolerated(0.25)	.	ASAP2_HUMAN	ASAP2	HGNC	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN	.	UPI0000073459	SNV	ASAP2,missense_variant,p.Ser864Thr,ENST00000281419,;ASAP2,missense_variant,p.Ser819Thr,ENST00000315273,;ASAP2,non_coding_transcript_exon_variant,,ENST00000491413,;	2931	106	99	SUCCESS
POPDC2	64091	.	GRCh37	3	119378986	119378986	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	101	0	ENST00000264231.3:c.285G>A	p.Leu95=	p.L95=	ENST00000264231	NM_022135.2	95	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2992.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACCAGGTG	NONE	.	.	hmmpanther:PTHR12101,hmmpanther:PTHR12101:SF15	.	.	ENSP00000264231	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000264231	Transcript	.	.	ENSG00000121577	17648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POPD2_HUMAN	POPDC2	HGNC	.	.	UPI000000DAC2	SNV	POPDC2,synonymous_variant,p.%3D,ENST00000538678,;POPDC2,synonymous_variant,p.%3D,ENST00000468801,;POPDC2,synonymous_variant,p.%3D,ENST00000264231,;POPDC2,synonymous_variant,p.%3D,ENST00000493094,;POPDC2,non_coding_transcript_exon_variant,,ENST00000468916,;POPDC2,intron_variant,,ENST00000463323,;POPDC2,intron_variant,,ENST00000474523,;POPDC2,synonymous_variant,p.%3D,ENST00000341124,;COX17,3_prime_UTR_variant,,ENST00000468918,;COX17,intron_variant,,ENST00000490145,;	452	101	83	SUCCESS
TMEM40	55287	.	GRCh37	3	12791298	12791298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	29	154	0	ENST00000264728.8:c.34G>T	p.Asp12Tyr	p.D12Y	ENST00000264728		12	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2613.1	34	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCCTGAG	NONE	.	.	hmmpanther:PTHR16108	.	.	ENSP00000322837	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000314124	Transcript	.	.	ENSG00000088726	25620	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious_low_confidence(0)	.	TMM40_HUMAN	TMEM40	HGNC	.	.	UPI00000732A9	SNV	TMEM40,missense_variant,p.Asp28Tyr,ENST00000431022,;TMEM40,missense_variant,p.Asp12Tyr,ENST00000435218,;TMEM40,missense_variant,p.Asp12Tyr,ENST00000435575,;TMEM40,missense_variant,p.Asp12Tyr,ENST00000264728,;TMEM40,missense_variant,p.Asp12Tyr,ENST00000314124,;	391	154	179	SUCCESS
RAB43	339122	.	GRCh37	3	128813830	128813830	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs754674607	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	50	0	ENST00000315150.5:c.387C>G	p.Ile129Met	p.I129M	ENST00000315150	NM_198490.2	129	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS33850.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGATCAG	NONE	byFrequency	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF193,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000319781	.	2/3	.	.	.	.	.	.	.	.	rs754674607	2/3	PASS	ENST00000315150	Transcript	.	.	ENSG00000172780	19983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.07)	.	RAB43_HUMAN	RAB43	HGNC	C9JFM7_HUMAN	.	UPI000000D851	SNV	RAB43,missense_variant,p.Ile129Met,ENST00000393307,;RAB43,missense_variant,p.Ile129Met,ENST00000393308,;RAB43,missense_variant,p.Ile129Met,ENST00000315150,;RAB43,missense_variant,p.Ile129Met,ENST00000393305,;RAB43,missense_variant,p.Ile129Met,ENST00000476465,;RAB43,missense_variant,p.Ile129Met,ENST00000393304,;ISY1-RAB43,splice_region_variant,,ENST00000418265,;RAB43,downstream_gene_variant,,ENST00000457077,;	688	50	29	SUCCESS
SLC33A1	9197	.	GRCh37	3	155560395	155560396	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	99	0	ENST00000359479.3:c.788dup	p.Trp264LeufsTer136	p.W264Lfs*136	ENST00000359479	NM_004733.3	263	ttc/ttTc	0	.	.	.	.	.	A	F/FX	protein_coding	YES	CCDS3173.1	788-789	INDELOCATOR|VARSCANI	.	CCCCAGAAAAA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF13000,TIGRFAM_domain:TIGR00901,hmmpanther:PTHR12778,hmmpanther:PTHR12778:SF3	.	.	ENSP00000376587	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000392845	Transcript	.	.	ENSG00000169359	95	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACATN_HUMAN	SLC33A1	HGNC	.	.	UPI000006E3FD	insertion	SLC33A1,frameshift_variant,p.Trp264LeufsTer136,ENST00000392845,;SLC33A1,frameshift_variant,p.Trp264LeufsTer136,ENST00000359479,;SLC33A1,intron_variant,,ENST00000475842,;SLC33A1,upstream_gene_variant,,ENST00000496772,;SLC33A1,downstream_gene_variant,,ENST00000460729,;SLC33A1,intron_variant,,ENST00000468581,;	1169-1170	99	56	SUCCESS
MFN1	55669	.	GRCh37	3	179066588	179066588	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	52	0	ENST00000471841.1:c.-7-45A>G		p.*3*	ENST00000471841	NM_033540.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3228.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTATCATC	NONE	.	.	.	.	.	ENSP00000420617	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000471841	Transcript	.	.	ENSG00000171109	18262	.	.	MODIFIER	1/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFN1_HUMAN	MFN1	HGNC	C9JXQ1_HUMAN,C9JQT7_HUMAN	.	UPI000013D495	SNV	MFN1,5_prime_UTR_variant,,ENST00000263969,;MFN1,intron_variant,,ENST00000280653,;MFN1,intron_variant,,ENST00000471841,;MFN1,intron_variant,,ENST00000467174,;MFN1,intron_variant,,ENST00000357390,;	.	52	31	SUCCESS
KCNH8	131096	.	GRCh37	3	19190040	19190040	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	22	0	ENST00000328405.2:c.-172A>T		p.*58*	ENST00000328405	NM_144633.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2632.1	.	MUTECT|MUSE	.	GCTGGAACTCT	NONE	.	.	.	.	.	ENSP00000328813	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,5_prime_UTR_variant,,ENST00000328405,;KCNH8,5_prime_UTR_variant,,ENST00000452398,;	95	22	27	SUCCESS
MUC4	4585	.	GRCh37	3	195509739	195509739	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	14	202	0	ENST00000463781.3:c.8712A>G	p.Ser2904=	p.S2904=	ENST00000463781	NM_018406.6	2904	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS54700.1	8712	RADIA|MUTECT|MUSE|VARSCANS	.	GATACTGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	9172	202	123	SUCCESS
BDH1	622	.	GRCh37	3	197238829	197238829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	109	0	ENST00000358186.2:c.969G>T	p.Trp323Cys	p.W323C	ENST00000358186	NM_203315.2	323	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS3328.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGCCACCA	NONE	.	.	hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF279,Superfamily_domains:SSF51735	.	.	ENSP00000376184	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000392379	Transcript	.	.	ENSG00000161267	1027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	BDH_HUMAN	BDH1	HGNC	E9PCG9_HUMAN,C9K0G7_HUMAN,C9JQ90_HUMAN,C9JEB9_HUMAN,C9JB83_HUMAN,A1E284_HUMAN	.	UPI0000126875	SNV	BDH1,missense_variant,p.Trp323Cys,ENST00000392379,;BDH1,missense_variant,p.Trp323Cys,ENST00000392378,;BDH1,missense_variant,p.Trp323Cys,ENST00000358186,;BDH1,missense_variant,p.Trp236Cys,ENST00000441275,;BDH1,downstream_gene_variant,,ENST00000434143,;BDH1,downstream_gene_variant,,ENST00000455876,;BDH1,downstream_gene_variant,,ENST00000446746,;BDH1,downstream_gene_variant,,ENST00000432819,;RP13-616I3.1,upstream_gene_variant,,ENST00000608206,;BDH1,downstream_gene_variant,,ENST00000483920,;BDH1,downstream_gene_variant,,ENST00000477015,;BDH1,downstream_gene_variant,,ENST00000479425,;AC128709.1,upstream_gene_variant,,ENST00000395025,;	1371	109	86	SUCCESS
TTC21A	199223	.	GRCh37	3	39166927	39166927	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	71	0	ENST00000431162.2:c.1320G>T	p.Met440Ile	p.M440I	ENST00000431162		440	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS46800.1	1320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGCAAGG	NONE	.	.	hmmpanther:PTHR14699:SF2,hmmpanther:PTHR14699	.	.	ENSP00000398211	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000431162	Transcript	.	.	ENSG00000168026	30761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.09)	.	TT21A_HUMAN	TTC21A	HGNC	.	.	UPI00015D46B9	SNV	TTC21A,missense_variant,p.Met391Ile,ENST00000440121,;TTC21A,missense_variant,p.Met440Ile,ENST00000301819,;TTC21A,missense_variant,p.Met440Ile,ENST00000431162,;TTC21A,upstream_gene_variant,,ENST00000471025,;TTC21A,upstream_gene_variant,,ENST00000466875,;TTC21A,missense_variant,p.Met432Ile,ENST00000430597,;	1454	71	50	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs28931589	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	134	0	ENST00000349496.5:c.101G>T	p.Gly34Val	p.G34V	ENST00000349496	NM_001904.3	34	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2694.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	CTCTGGAATCC	SITE|p.G34V|c.101G>T|90,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.G34R|c.100G>C|19,CODON|p.G34R|c.100G>A|88,CODON|p.G34E|c.101G>A|87,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs28931589,COSM5671,COSM5670	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	19635198	probably_damaging(0.998)	.	deleterious(0)	0,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Gly34Val,ENST00000349496,;CTNNB1,missense_variant,p.Gly27Val,ENST00000426215,;CTNNB1,missense_variant,p.Gly34Val,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Val,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Val,ENST00000396185,;CTNNB1,missense_variant,p.Gly34Val,ENST00000405570,;CTNNB1,missense_variant,p.Gly27Val,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Val,ENST00000396183,;CTNNB1,missense_variant,p.Gly34Val,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	381	134	115	SUCCESS
LAMB2	3913	.	GRCh37	3	49161060	49161060	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	74	0	ENST00000305544.4:c.3802G>T	p.Glu1268Ter	p.E1268*	ENST00000305544		1268	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2789.1	3802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCACGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF36,hmmpanther:PTHR10574	.	.	ENSP00000388325	.	26/33	.	.	.	.	.	.	.	.	.	26/33	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	SNV	LAMB2,stop_gained,p.Glu1268Ter,ENST00000305544,;LAMB2,stop_gained,p.Glu1268Ter,ENST00000418109,;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000453664,;USP19,upstream_gene_variant,,ENST00000434032,;USP19,upstream_gene_variant,,ENST00000398888,;USP19,upstream_gene_variant,,ENST00000398898,;USP19,upstream_gene_variant,,ENST00000306026,;USP19,upstream_gene_variant,,ENST00000488993,;LAMB2,downstream_gene_variant,,ENST00000464891,;LAMB2,downstream_gene_variant,,ENST00000486298,;USP19,upstream_gene_variant,,ENST00000491859,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,non_coding_transcript_exon_variant,,ENST00000477225,;LAMB2,non_coding_transcript_exon_variant,,ENST00000469665,;LAMB2,downstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,downstream_gene_variant,,ENST00000477701,;LAMB2,downstream_gene_variant,,ENST00000480640,;LAMB2,downstream_gene_variant,,ENST00000488638,;LAMB2,downstream_gene_variant,,ENST00000538659,;LAMB2,downstream_gene_variant,,ENST00000542580,;LAMB2,downstream_gene_variant,,ENST00000493571,;LAMB2,downstream_gene_variant,,ENST00000483057,;	3967	74	41	SUCCESS
BSN	8927	.	GRCh37	3	49700524	49700524	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	39	0	ENST00000296452.4:c.10933del	p.His3645ThrfsTer150	p.H3645Tfs*150	ENST00000296452	NM_003458.3	3645	Cac/ac	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS2800.1	10933	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGAACACCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	deletion	BSN,frameshift_variant,p.His3645ThrfsTer150,ENST00000296452,;	11047	39	45	SUCCESS
IFRD2	7866	.	GRCh37	3	50328069	50328069	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782102310	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	74	0	ENST00000417626.2:c.100G>C	p.Asp34His	p.D34H	ENST00000417626	NM_006764.4	34	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS46831.1	292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCGTCAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12354:SF8,hmmpanther:PTHR12354,Pfam_domain:PF05004	.	.	ENSP00000398971	.	2/12	.	.	.	.	.	.	.	.	rs782102310	2/12	PASS	ENST00000429673	Transcript	.	.	ENSG00000214706	5457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	IFRD2_HUMAN	IFRD2	HGNC	.	.	UPI0000E5A694	SNV	IFRD2,missense_variant,p.Asp98His,ENST00000429673,;IFRD2,missense_variant,p.Asp200His,ENST00000336089,;IFRD2,missense_variant,p.Asp34His,ENST00000417626,;IFRD2,missense_variant,p.Asp34His,ENST00000436390,;HYAL3,downstream_gene_variant,,ENST00000450982,;IFRD2,upstream_gene_variant,,ENST00000426499,;HYAL3,downstream_gene_variant,,ENST00000435141,;HYAL3,downstream_gene_variant,,ENST00000336307,;LSMEM2,downstream_gene_variant,,ENST00000316436,;HYAL3,downstream_gene_variant,,ENST00000359051,;HYAL3,downstream_gene_variant,,ENST00000415204,;HYAL3,downstream_gene_variant,,ENST00000513170,;IFRD2,non_coding_transcript_exon_variant,,ENST00000484043,;IFRD2,non_coding_transcript_exon_variant,,ENST00000468737,;IFRD2,missense_variant,p.Asp34His,ENST00000414734,;IFRD2,non_coding_transcript_exon_variant,,ENST00000474556,;IFRD2,non_coding_transcript_exon_variant,,ENST00000462001,;IFRD2,non_coding_transcript_exon_variant,,ENST00000489569,;IFRD2,upstream_gene_variant,,ENST00000469855,;IFRD2,upstream_gene_variant,,ENST00000483071,;IFRD2,upstream_gene_variant,,ENST00000438296,;IFRD2,upstream_gene_variant,,ENST00000486322,;IFRD2,upstream_gene_variant,,ENST00000464258,;IFRD2,upstream_gene_variant,,ENST00000492387,;	292	74	49	SUCCESS
TLR9	54106	.	GRCh37	3	52255747	52255747	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs148303873	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	132	0	ENST00000360658.2:c.2585G>T	p.Gly862Val	p.G862V	ENST00000360658	NM_017442.3	862	gGg/gTg	0	T:0.0045	T:0.003	.	T:0.0014	.	A	G/V	protein_coding	YES	.	3047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCCACTT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52200	T:0	T:0.0001	ENSP00000417517	T:0	5/5	.	.	.	.	.	.	.	.	rs148303873	5/5	PASS	ENST00000494383	Transcript	.	T:0.0010	ENSG00000173366	15633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	T:0	tolerated(0.54)	.	.	TLR9	Uniprot_gn	C3W5P5_HUMAN	.	UPI0001B795AC	SNV	TLR9,missense_variant,p.Gly1016Val,ENST00000494383,;TLR9,missense_variant,p.Gly886Val,ENST00000597542,;TLR9,missense_variant,p.Gly862Val,ENST00000360658,;TLR9,downstream_gene_variant,,ENST00000478201,;	3045	132	62	SUCCESS
FLNB	2317	.	GRCh37	3	58121724	58121724	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	39	180	0	ENST00000295956.4:c.4690A>C	p.Lys1564Gln	p.K1564Q	ENST00000295956	NM_001457.3	1564	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS54599.1	4783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCAAAAGA	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	29/47	.	.	.	.	.	.	.	.	.	29/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	deleterious(0.02)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Lys1564Gln,ENST00000429972,;FLNB,missense_variant,p.Lys1564Gln,ENST00000295956,;FLNB,missense_variant,p.Lys1564Gln,ENST00000358537,;FLNB,missense_variant,p.Lys1595Gln,ENST00000490882,;FLNB,missense_variant,p.Lys1564Gln,ENST00000348383,;FLNB,missense_variant,p.Lys1395Gln,ENST00000493452,;FLNB,missense_variant,p.Lys1395Gln,ENST00000419752,;FLNB,missense_variant,p.Lys1564Gln,ENST00000357272,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;	4948	180	140	SUCCESS
ARL13B	200894	.	GRCh37	3	93762021	93762021	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs769719854	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	283	131	647	0	ENST00000394222.3:c.961A>T	p.Lys321Ter	p.K321*	ENST00000394222	NM_001174150.1	321	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS2925.1	961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATAAGGAG	NONE	.	.	hmmpanther:PTHR11711:SF102,hmmpanther:PTHR11711	.	.	ENSP00000377769	.	7/10	.	.	.	.	.	.	.	.	rs769719854	7/10	PASS	ENST00000394222	Transcript	.	.	ENSG00000169379	25419	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AR13B_HUMAN	ARL13B	HGNC	B4DRI8_HUMAN	.	UPI00001B94DF	SNV	ARL13B,stop_gained,p.Lys321Ter,ENST00000394222,;ARL13B,stop_gained,p.Lys214Ter,ENST00000303097,;ARL13B,stop_gained,p.Lys218Ter,ENST00000535334,;ARL13B,stop_gained,p.Lys321Ter,ENST00000471138,;ARL13B,stop_gained,p.Lys42Ter,ENST00000539730,;ARL13B,downstream_gene_variant,,ENST00000486562,;DHFRL1,downstream_gene_variant,,ENST00000481631,;ARL13B,3_prime_UTR_variant,,ENST00000335438,;ARL13B,3_prime_UTR_variant,,ENST00000460371,;	1236	647	415	SUCCESS
TLL1	7092	.	GRCh37	4	167020562	167020562	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	121	213	0	ENST00000061240.2:c.2790A>T	p.Glu930Asp	p.E930D	ENST00000061240	NM_012464.4	930	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3811.1	2790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAATTATC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0.02)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Glu930Asp,ENST00000061240,;TLL1,missense_variant,p.Glu953Asp,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	3437	214	183	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73184296	73184296	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	99	179	1	ENST00000286657.4:c.1478G>C	p.Cys493Ser	p.C493S	ENST00000286657	NM_014243.2	493	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS3553.1	1478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGCACATT	NONE	.	.	hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723	.	.	ENSP00000286657	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,missense_variant,p.Cys493Ser,ENST00000286657,;RP11-373J21.1,upstream_gene_variant,,ENST00000503918,;	1515	180	142	SUCCESS
TSLP	85480	.	GRCh37	5	110409265	110409265	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	113	199	0	ENST00000344895.3:c.273G>T	p.Ala91=	p.A91=	ENST00000344895	NM_033035.4	91	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4101.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCGTCGCT	NONE	.	.	Pfam_domain:PF15216	.	.	ENSP00000339804	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000344895	Transcript	.	.	ENSG00000145777	30743	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSLP_HUMAN	TSLP	HGNC	Q96AU7_HUMAN,G3XAM8_HUMAN	.	UPI000006DB21	SNV	TSLP,synonymous_variant,p.%3D,ENST00000420978,;TSLP,synonymous_variant,p.%3D,ENST00000344895,;TSLP,5_prime_UTR_variant,,ENST00000379706,;CTC-551A13.2,downstream_gene_variant,,ENST00000507269,;	472	199	266	SUCCESS
APC	324	.	GRCh37	5	112175910	112175910	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	83	188	1	ENST00000257430.4:c.4619A>G	p.Glu1540Gly	p.E1540G	ENST00000257430	NM_000038.5	1540	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4107.1	4619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAGCAGC	BUFFER|p.T1537K|c.4610C>A|7,BUFFER|p.S1539*|c.4616C>G|3,BUFFER|p.Q1541*|c.4621C>T|4,BUFFER|p.Q1541R|c.4622A>G|4,BUFFER|p.E1544*|c.4630G>T|5	.	.	hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Glu1540Gly,ENST00000257430,;APC,missense_variant,p.Glu1540Gly,ENST00000457016,;APC,missense_variant,p.Glu1540Gly,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000514164,;	4999	189	214	SUCCESS
DNAH5	1767	.	GRCh37	5	13866346	13866346	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	353	82	366	1	ENST00000265104.4:c.4099A>T	p.Arg1367Trp	p.R1367W	ENST00000265104	NM_001369.2	1367	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3882.1	4099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTGTCAC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	26/79	.	.	.	.	.	.	.	.	.	26/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Arg1367Trp,ENST00000265104,;CTB-51A17.1,intron_variant,,ENST00000503244,;	4204	367	435	SUCCESS
PCDHGA9	56107	.	GRCh37	5	140782595	140782595	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	48	87	0	ENST00000573521.1:c.76G>T	p.Ala26Ser	p.A26S	ENST00000573521	NM_018921.2	26	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS58981.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCCAGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028:SF86,hmmpanther:PTHR24028	.	.	ENSP00000460274	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000573521	Transcript	.	.	ENSG00000261934	8707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.3)	.	PCDG9_HUMAN	PCDHGA9	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000721C3	SNV	PCDHGA9,missense_variant,p.Ala26Ser,ENST00000573521,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	76	87	140	SUCCESS
FCHSD1	89848	.	GRCh37	5	141021270	141021270	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs767554840	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	50	100	0	ENST00000435817.2:c.2006C>T	p.Pro669Leu	p.P669L	ENST00000435817	NM_033449.2	669	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47295.1	2006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCGGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735	.	.	ENSP00000399259	.	19/20	.	.	.	.	.	.	.	.	rs767554840	19/20	PASS	ENST00000435817	Transcript	.	.	ENSG00000197948	25463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FCSD1_HUMAN	FCHSD1	HGNC	.	.	UPI000000D903	SNV	FCHSD1,missense_variant,p.Pro669Leu,ENST00000435817,;FCHSD1,splice_region_variant,,ENST00000522783,;FCHSD1,splice_region_variant,,ENST00000522126,;HDAC3,upstream_gene_variant,,ENST00000523088,;RELL2,downstream_gene_variant,,ENST00000521367,;RELL2,downstream_gene_variant,,ENST00000297164,;HDAC3,upstream_gene_variant,,ENST00000305264,;RELL2,downstream_gene_variant,,ENST00000518856,;FCHSD1,downstream_gene_variant,,ENST00000518499,;RELL2,downstream_gene_variant,,ENST00000444782,;FCHSD1,splice_region_variant,,ENST00000523856,;FCHSD1,splice_region_variant,,ENST00000518160,;RELL2,downstream_gene_variant,,ENST00000518025,;FCHSD1,downstream_gene_variant,,ENST00000522386,;FCHSD1,downstream_gene_variant,,ENST00000522763,;RELL2,downstream_gene_variant,,ENST00000520674,;RELL2,downstream_gene_variant,,ENST00000517794,;FCHSD1,splice_region_variant,,ENST00000520747,;HDAC3,upstream_gene_variant,,ENST00000519474,;HDAC3,upstream_gene_variant,,ENST00000495485,;HDAC3,upstream_gene_variant,,ENST00000492506,;	2057	100	122	SUCCESS
DPYSL3	1809	.	GRCh37	5	146777290	146777290	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs377459296	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	42	0	ENST00000398514.3:c.1400G>T	p.Arg467Leu	p.R467L	ENST00000398514	NM_001387.2	467	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS56387.1	1742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCGGCCA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF51338,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR02033,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF57	.	T:0.0001	ENSP00000343690	.	12/14	.	.	.	.	.	.	.	.	rs377459296	12/14	PASS	ENST00000343218	Transcript	.	.	ENSG00000113657	3015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DPYL3_HUMAN	DPYSL3	HGNC	F5GWI3_HUMAN	.	UPI000020CF0E	SNV	DPYSL3,missense_variant,p.Arg467Leu,ENST00000398514,;DPYSL3,missense_variant,p.Arg93Leu,ENST00000534907,;DPYSL3,missense_variant,p.Arg581Leu,ENST00000343218,;DPYSL3,intron_variant,,ENST00000520473,;CTB-108O6.2,upstream_gene_variant,,ENST00000607270,;DPYSL3,non_coding_transcript_exon_variant,,ENST00000507309,;DPYSL3,3_prime_UTR_variant,,ENST00000523458,;DPYSL3,downstream_gene_variant,,ENST00000508042,;	1940	42	40	SUCCESS
MYO10	4651	.	GRCh37	5	16701801	16701801	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	56	0	ENST00000513610.1:c.2703G>A	p.Gln901=	p.Q901=	ENST00000513610	NM_012334.2	901	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS54834.1	2703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGCTGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140	.	.	ENSP00000421280	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,synonymous_variant,p.%3D,ENST00000274203,;MYO10,synonymous_variant,p.%3D,ENST00000427430,;MYO10,synonymous_variant,p.%3D,ENST00000515803,;MYO10,synonymous_variant,p.%3D,ENST00000505695,;MYO10,synonymous_variant,p.%3D,ENST00000513610,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000510401,;MYO10,downstream_gene_variant,,ENST00000512061,;MYO10,downstream_gene_variant,,ENST00000506343,;	3158	56	60	SUCCESS
CCDC127	133957	.	GRCh37	5	218226	218226	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs114533164	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	51	0	ENST00000296824.3:c.-29C>T		p.*10*	ENST00000296824	NM_145265.2			0	.	A:0.0734	.	A:0.0086	.	A	.	protein_coding	YES	CCDS3852.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCGGGACCTC	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000296824	A:0	1/3	.	.	.	.	.	.	.	.	rs114533164	1/3	PASS	ENST00000296824	Transcript	.	A:0.0206	ENSG00000164366	30520	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CC127_HUMAN	CCDC127	HGNC	D6R9R2_HUMAN	.	UPI0000071C29	SNV	CCDC127,5_prime_UTR_variant,,ENST00000296824,;SDHA,upstream_gene_variant,,ENST00000264932,;CCDC127,upstream_gene_variant,,ENST00000441693,;SDHA,upstream_gene_variant,,ENST00000504309,;SDHA,upstream_gene_variant,,ENST00000510361,;SDHA,upstream_gene_variant,,ENST00000509632,;SDHA,upstream_gene_variant,,ENST00000502379,;CTD-2083E4.4,upstream_gene_variant,,ENST00000565521,;SDHA,upstream_gene_variant,,ENST00000504824,;SDHA,upstream_gene_variant,,ENST00000505555,;	105	51	60	SUCCESS
MROH2B	133558	.	GRCh37	5	41019095	41019095	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	63	1	ENST00000399564.4:c.2467C>T	p.Gln823Ter	p.Q823*	ENST00000399564	NM_173489.4	823	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS47202.1	2467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTGTAGTG	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000382476	.	25/42	.	.	.	.	.	.	.	.	.	25/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,stop_gained,p.Gln378Ter,ENST00000506092,;MROH2B,stop_gained,p.Gln823Ter,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	2918	64	86	SUCCESS
SLC9A3	6550	.	GRCh37	5	484645	484645	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1183347565	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	63	121	0	ENST00000264938.3:c.922G>A	p.Ala308Thr	p.A308T	ENST00000264938	NM_004174.2	308	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3855.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCCGACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000264938	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000264938	Transcript	.	.	ENSG00000066230	11073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	SL9A3_HUMAN	SLC9A3	HGNC	.	.	UPI000013D597	SNV	SLC9A3,missense_variant,p.Ala308Thr,ENST00000514375,;SLC9A3,missense_variant,p.Ala308Thr,ENST00000264938,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;SLC9A3,upstream_gene_variant,,ENST00000507407,;	932	121	136	SUCCESS
ANKRD34B	340120	.	GRCh37	5	79854670	79854670	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	41	0	ENST00000338682.3:c.1169T>A	p.Leu390His	p.L390H	ENST00000338682	NM_001004441.2	390	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS34194.1	1169	MUTECT|MUSE	.	CTATAAGTGCT	NONE	.	.	hmmpanther:PTHR24156:SF1,hmmpanther:PTHR24156	.	.	ENSP00000339802	.	5/5	.	.	.	.	.	.	.	.	COSM483104	5/5	PASS	ENST00000338682	Transcript	.	.	ENSG00000189127	33736	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.599)	.	tolerated(0.55)	1	AN34B_HUMAN	ANKRD34B	HGNC	.	.	UPI00003672FA	SNV	ANKRD34B,missense_variant,p.Leu390His,ENST00000338682,;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	1842	41	42	SUCCESS
CAST	831	.	GRCh37	5	96100971	96100971	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	95	195	0	ENST00000341926.3:c.1730G>A	p.Ser577Asn	p.S577N	ENST00000341926		577	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS54882.1	1856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAGTCTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10077,hmmpanther:PTHR10077:SF0,Pfam_domain:PF00748	.	.	ENSP00000379157	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000395812	Transcript	.	.	ENSG00000153113	1515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	ICAL_HUMAN	CAST	HGNC	E7EQ12_HUMAN	.	UPI0000DA4C59	SNV	CAST,missense_variant,p.Ser623Asn,ENST00000508608,;CAST,missense_variant,p.Ser660Asn,ENST00000395813,;CAST,missense_variant,p.Ser562Asn,ENST00000511049,;CAST,missense_variant,p.Ser292Asn,ENST00000508579,;CAST,missense_variant,p.Ser660Asn,ENST00000508830,;CAST,missense_variant,p.Ser625Asn,ENST00000325674,;CAST,missense_variant,p.Ser638Asn,ENST00000510756,;CAST,missense_variant,p.Ser563Asn,ENST00000511782,;CAST,missense_variant,p.Ser577Asn,ENST00000510156,;CAST,missense_variant,p.Ser641Asn,ENST00000359176,;CAST,missense_variant,p.Ser619Asn,ENST00000395812,;CAST,missense_variant,p.Ser555Asn,ENST00000309190,;CAST,missense_variant,p.Ser542Asn,ENST00000509903,;CAST,missense_variant,p.Ser577Asn,ENST00000341926,;CAST,missense_variant,p.Ser334Asn,ENST00000510500,;CAST,missense_variant,p.Ser564Asn,ENST00000338252,;CAST,missense_variant,p.Ser329Asn,ENST00000437034,;CAST,missense_variant,p.Ser300Asn,ENST00000515663,;CAST,missense_variant,p.Ser505Asn,ENST00000504465,;ERAP1,intron_variant,,ENST00000296754,;CAST,non_coding_transcript_exon_variant,,ENST00000348386,;CAST,missense_variant,p.Ser319Asn,ENST00000484552,;CAST,missense_variant,p.Ser72Asn,ENST00000510098,;CAST,upstream_gene_variant,,ENST00000509529,;	2042	195	267	SUCCESS
REV3L	5980	.	GRCh37	6	111680114	111680114	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	59	104	0	ENST00000358835.3:c.6983T>A	p.Ile2328Asn	p.I2328N	ENST00000358835		2328	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS5091.2	6983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGATGCAG	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00486,Gene3D:3.30.420.10,Pfam_domain:PF03104,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Ile2328Asn,ENST00000358835,;REV3L,missense_variant,p.Ile2328Asn,ENST00000368802,;REV3L,missense_variant,p.Ile2328Asn,ENST00000368805,;REV3L,missense_variant,p.Ile2250Asn,ENST00000435970,;REV3L-IT1,downstream_gene_variant,,ENST00000411895,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,intron_variant,,ENST00000413831,;REV3L,upstream_gene_variant,,ENST00000467500,;FCF1P5,downstream_gene_variant,,ENST00000406490,;	7438	104	114	SUCCESS
HBS1L	10767	.	GRCh37	6	135375909	135375909	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	28	0	ENST00000367837.5:c.-80G>T		p.*27*	ENST00000367837	NM_006620.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5173.1	.	MUTECT|MUSE	.	AACTGCAGCCT	NONE	.	.	.	.	.	ENSP00000356811	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000367837	Transcript	.	.	ENSG00000112339	4834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HBS1L_HUMAN	HBS1L	HGNC	E9PS53_HUMAN,E9PHZ9_HUMAN,D9YZV0_HUMAN,B7Z524_HUMAN,B7Z1K2_HUMAN	.	UPI00000372EA	SNV	HBS1L,5_prime_UTR_variant,,ENST00000415177,;HBS1L,5_prime_UTR_variant,,ENST00000367837,;HBS1L,5_prime_UTR_variant,,ENST00000367820,;HBS1L,5_prime_UTR_variant,,ENST00000524715,;HBS1L,5_prime_UTR_variant,,ENST00000525067,;HBS1L,5_prime_UTR_variant,,ENST00000367822,;HBS1L,5_prime_UTR_variant,,ENST00000367826,;HBS1L,5_prime_UTR_variant,,ENST00000314674,;HBS1L,intron_variant,,ENST00000529882,;HBS1L,upstream_gene_variant,,ENST00000367824,;HBS1L,upstream_gene_variant,,ENST00000445176,;HBS1L,upstream_gene_variant,,ENST00000533274,;CTA-212D2.2,upstream_gene_variant,,ENST00000447508,;HBS1L,upstream_gene_variant,,ENST00000526100,;	128	28	16	SUCCESS
ALDH5A1	7915	.	GRCh37	6	24495386	24495386	+	synonymous_variant	Silent	SNP	C	C	T	rs760612467	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	48	0	ENST00000357578.3:c.162C>T	p.Leu54=	p.L54=	ENST00000357578	NM_001080.3	54	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4556.1	162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCTCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF49	.	.	ENSP00000314649	.	1/11	.	.	.	.	.	.	.	.	rs760612467	1/11	PASS	ENST00000348925	Transcript	.	.	ENSG00000112294	408	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSDH_HUMAN	ALDH5A1	HGNC	.	.	UPI00001619D2	SNV	ALDH5A1,synonymous_variant,p.%3D,ENST00000491546,;ALDH5A1,synonymous_variant,p.%3D,ENST00000348925,;ALDH5A1,synonymous_variant,p.%3D,ENST00000357578,;ALDH5A1,intron_variant,,ENST00000546278,;GPLD1,non_coding_transcript_exon_variant,,ENST00000475417,;GPLD1,non_coding_transcript_exon_variant,,ENST00000474784,;	190	48	77	SUCCESS
HIST1H2BC	0	.	GRCh37	6	26123951	26123951	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1373665078	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	46	100	0	ENST00000314332.5:c.182G>T	p.Gly61Val	p.G61V	ENST00000314332		61	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4584.1	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCCCATG	NONE	.	.	hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621	.	.	ENSP00000321744	.	1/2	.	.	.	.	.	.	.	.	COSM220391	1/2	PASS	ENST00000314332	Transcript	.	.	ENSG00000180596	4757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.461)	.	deleterious_low_confidence(0.01)	1	H2B1C_HUMAN	HIST1H2BC	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BC,missense_variant,p.Gly61Val,ENST00000314332,;HIST1H2BC,missense_variant,p.Gly61Val,ENST00000396984,;HIST1H2AC,upstream_gene_variant,,ENST00000377791,;HIST1H2AC,upstream_gene_variant,,ENST00000602637,;HIST1H2AC,upstream_gene_variant,,ENST00000314088,;	188	100	92	SUCCESS
ZSCAN23	222696	.	GRCh37	6	28402493	28402493	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	58	0	ENST00000289788.4:c.919T>C	p.Cys307Arg	p.C307R	ENST00000289788	NM_001012455.1	307	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS47393.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCACTGGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23226:SF62,hmmpanther:PTHR23226,PROSITE_profiles:PS50157	.	.	ENSP00000289788	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000289788	Transcript	.	.	ENSG00000187987	21193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZSC23_HUMAN	ZSCAN23	HGNC	.	.	UPI000019874A	SNV	ZSCAN23,missense_variant,p.Cys307Arg,ENST00000289788,;ZSCAN23,downstream_gene_variant,,ENST00000486481,;ZSCAN23,3_prime_UTR_variant,,ENST00000481983,;	1065	58	86	SUCCESS
PKHD1	5314	.	GRCh37	6	51907825	51907825	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749030797	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	24	89	0	ENST00000371117.3:c.2929A>G	p.Asn977Asp	p.N977D	ENST00000371117	NM_138694.3	977	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS4935.1	2929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTTTGAGA	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,Superfamily_domains:SSF81296	.	.	ENSP00000360158	.	27/67	.	.	.	.	.	.	.	.	rs749030797	27/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	tolerated(0.15)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Asn977Asp,ENST00000340994,;PKHD1,missense_variant,p.Asn977Asp,ENST00000371117,;	3205	89	110	SUCCESS
MMS22L	253714	.	GRCh37	6	97711249	97711249	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs562241147	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	52	0	ENST00000275053.4:c.904C>T	p.His302Tyr	p.H302Y	ENST00000275053	NM_198468.2	302	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS5039.1	904	MUTECT|MUSE	.	AAGATGAATAA	NONE	.	.	Pfam_domain:PF14910	.	.	ENSP00000275053	.	9/25	.	.	.	.	.	.	.	.	rs562241147,COSM3381706	9/25	PASS	ENST00000275053	Transcript	.	.	ENSG00000146263	21475	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.009)	.	tolerated(0.09)	0,1	MMS22_HUMAN	MMS22L	HGNC	H9KVD8_HUMAN	.	UPI00003673C9	SNV	MMS22L,missense_variant,p.His302Tyr,ENST00000275053,;MMS22L,missense_variant,p.His302Tyr,ENST00000369251,;MMS22L,intron_variant,,ENST00000510018,;MMS22L,upstream_gene_variant,,ENST00000482634,;MMS22L,non_coding_transcript_exon_variant,,ENST00000506256,;MMS22L,non_coding_transcript_exon_variant,,ENST00000484170,;MMS22L,3_prime_UTR_variant,,ENST00000509383,;MMS22L,non_coding_transcript_exon_variant,,ENST00000511335,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508976,;MMS22L,downstream_gene_variant,,ENST00000496119,;MMS22L,downstream_gene_variant,,ENST00000508820,;	1170	52	54	SUCCESS
DOCK4	9732	.	GRCh37	7	111517205	111517205	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	57	0	ENST00000437633.1:c.1625A>C	p.Tyr542Ser	p.Y542S	ENST00000437633	NM_014705.3	542	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS47688.1	1625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTAGCGG	NONE	.	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75,Pfam_domain:PF14429	.	.	ENSP00000404179	.	17/52	.	.	.	.	.	.	.	.	.	17/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Tyr530Ser,ENST00000445943,;DOCK4,missense_variant,p.Tyr542Ser,ENST00000428084,;DOCK4,missense_variant,p.Tyr542Ser,ENST00000437633,;DOCK4,upstream_gene_variant,,ENST00000423057,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;DOCK4,upstream_gene_variant,,ENST00000492532,;	1882	58	77	SUCCESS
MDFIC	29969	.	GRCh37	7	114655850	114655850	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	71	0	ENST00000393486.1:c.602G>T	p.Cys201Phe	p.C201F	ENST00000393486	NM_001166345.1	201	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS34737.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCTGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15304,hmmpanther:PTHR15304:SF0,Pfam_domain:PF15316	.	.	ENSP00000257724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000257724	Transcript	.	.	ENSG00000135272	28870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	MDFIC	HGNC	J3KN13_HUMAN,C9J784_HUMAN	.	UPI000013CF80	SNV	MDFIC,missense_variant,p.Cys310Phe,ENST00000257724,;MDFIC,missense_variant,p.Cys201Phe,ENST00000393486,;MDFIC,downstream_gene_variant,,ENST00000498196,;MDFIC,3_prime_UTR_variant,,ENST00000431629,;	1192	71	79	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121653253	121653253	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1232485167	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	61	0	ENST00000393386.2:c.4153G>T	p.Gly1385Cys	p.G1385C	ENST00000393386	NM_001206838.1	1385	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS34740.1	4153	RADIA|MUTECT|MUSE	.	GAGATGGTTCT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.503)	.	deleterious_low_confidence(0.01)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Gly1385Cys,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000483028,;	4564	62	119	SUCCESS
PRRT4	401399	.	GRCh37	7	127992475	127992475	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	45	0	ENST00000446477.2:c.1135T>G	p.Leu379Val	p.L379V	ENST00000446477	NM_001174164.1	379	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS55160.1	1135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAAGGCAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000415026	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000446477	Transcript	.	.	ENSG00000224940	37280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.14)	.	PRRT4_HUMAN	PRRT4	HGNC	C9JWH6_HUMAN,C9JVX5_HUMAN,C9JQT1_HUMAN	.	UPI0000DD7E1D	SNV	PRRT4,missense_variant,p.Leu379Val,ENST00000489517,;PRRT4,missense_variant,p.Leu379Val,ENST00000535159,;PRRT4,missense_variant,p.Leu379Val,ENST00000446477,;PRRT4,intron_variant,,ENST00000489835,;PRRT4,intron_variant,,ENST00000480290,;PRRT4,intron_variant,,ENST00000435512,;	1449	45	80	SUCCESS
SLC35B4	84912	.	GRCh37	7	133986857	133986857	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	55	113	1	ENST00000378509.4:c.350G>A	p.Ser117Asn	p.S117N	ENST00000378509	NM_032826.4	117	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS34756.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATACTGTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10778:SF4,hmmpanther:PTHR10778,Pfam_domain:PF08449	.	.	ENSP00000367770	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000378509	Transcript	.	.	ENSG00000205060	20584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.16)	.	S35B4_HUMAN	SLC35B4	HGNC	.	.	UPI00000377B5	SNV	SLC35B4,missense_variant,p.Ser117Asn,ENST00000378509,;SLC35B4,synonymous_variant,p.%3D,ENST00000416907,;SLC35B4,non_coding_transcript_exon_variant,,ENST00000470969,;	650	114	151	SUCCESS
EZH2	2146	.	GRCh37	7	148515060	148515060	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	92	0	ENST00000320356.2:c.1149A>T	p.Thr383=	p.T383=	ENST00000320356	NM_004456.4	383	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5891.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTGTATC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287	.	.	ENSP00000320147	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000320356	Transcript	.	.	ENSG00000106462	3527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EZH2_HUMAN	EZH2	HGNC	Q75MQ0_HUMAN,Q6R125_HUMAN	.	UPI000006D77C	SNV	EZH2,synonymous_variant,p.%3D,ENST00000541220,;EZH2,synonymous_variant,p.%3D,ENST00000350995,;EZH2,synonymous_variant,p.%3D,ENST00000476773,;EZH2,synonymous_variant,p.%3D,ENST00000483967,;EZH2,synonymous_variant,p.%3D,ENST00000478654,;EZH2,synonymous_variant,p.%3D,ENST00000320356,;EZH2,synonymous_variant,p.%3D,ENST00000460911,;EZH2,downstream_gene_variant,,ENST00000536783,;RNU7-20P,upstream_gene_variant,,ENST00000515903,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,non_coding_transcript_exon_variant,,ENST00000498186,;EZH2,downstream_gene_variant,,ENST00000483012,;	1271	92	132	SUCCESS
TMEM176B	28959	.	GRCh37	7	150488705	150488705	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	48	0	ENST00000326442.5:c.727G>T	p.Glu243Ter	p.E243*	ENST00000326442		243	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5908.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCTCAT	NONE	.	.	hmmpanther:PTHR15756,hmmpanther:PTHR15756:SF6	.	.	ENSP00000410269	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000447204	Transcript	.	.	ENSG00000106565	29596	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T176B_HUMAN	TMEM176B	HGNC	.	.	UPI000013C82B	SNV	TMEM176B,stop_gained,p.Glu243Ter,ENST00000429904,;TMEM176B,stop_gained,p.Glu243Ter,ENST00000492607,;TMEM176B,stop_gained,p.Glu206Ter,ENST00000450753,;TMEM176B,stop_gained,p.Glu243Ter,ENST00000326442,;TMEM176B,stop_gained,p.Glu243Ter,ENST00000447204,;TMEM176B,stop_gained,p.Glu243Ter,ENST00000434545,;RP5-1051J4.4,downstream_gene_variant,,ENST00000542395,;	1100	48	40	SUCCESS
KCNH2	3757	.	GRCh37	7	150656867	150656867	+	intron_variant	Intron	SNP	G	G	A	rs377524351	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	28	0	ENST00000262186.5:c.308-43C>T		p.*103*	ENST00000262186	NM_000238.3			0	C:0	.	.	.	.	A	.	protein_coding	YES	CCDS5910.1	.	MUTECT|MUSE	.	TCAGTGGGCAG	NONE	byCluster	.	.	.	C:0.0001	ENSP00000262186	.	.	.	.	.	.	.	.	.	.	rs377524351	.	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	MODIFIER	2/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,5_prime_UTR_variant,,ENST00000392968,;KCNH2,intron_variant,,ENST00000262186,;KCNH2,intron_variant,,ENST00000430723,;KCNH2,upstream_gene_variant,,ENST00000330883,;KCNH2,intron_variant,,ENST00000532957,;KCNH2,upstream_gene_variant,,ENST00000473610,;KCNH2,upstream_gene_variant,,ENST00000461280,;	.	28	29	SUCCESS
ABCA13	154664	.	GRCh37	7	48428794	48428794	+	synonymous_variant	Silent	SNP	C	C	T	rs374031988	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	56	143	0	ENST00000435803.1:c.11631C>T	p.Asn3877=	p.N3877=	ENST00000435803	NM_152701.3	3877	aaC/aaT	0	T:0	.	.	.	.	T	N	protein_coding	YES	CCDS47584.1	11631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACGGTGC	NONE	byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	T:0.0001	ENSP00000411096	.	37/62	.	.	.	.	.	.	.	.	rs374031988,COSM301015,COSM301016	37/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,synonymous_variant,p.%3D,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	11655	143	162	SUCCESS
NUDCD1	84955	.	GRCh37	8	110305580	110305580	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs150705202	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	53	0	ENST00000239690.4:c.633A>C	p.Lys211Asn	p.K211N	ENST00000239690	NM_032869.3	211	aaA/aaC	0	C:0.0014	C:0.0015	.	C:0	.	G	K/N	protein_coding	YES	CCDS6312.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTTTTCTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21664	C:0	C:0	ENSP00000239690	C:0	4/10	.	.	.	.	.	.	.	.	rs150705202	4/10	PASS	ENST00000239690	Transcript	.	C:0.0004	ENSG00000120526	24306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	C:0	tolerated(0.53)	.	NUDC1_HUMAN	NUDCD1	HGNC	.	.	UPI000021048A	SNV	NUDCD1,missense_variant,p.Lys211Asn,ENST00000239690,;NUDCD1,missense_variant,p.Lys182Asn,ENST00000427660,;NUDCD1,3_prime_UTR_variant,,ENST00000521439,;NUDCD1,3_prime_UTR_variant,,ENST00000519607,;	1008	53	94	SUCCESS
TBC1D31	93594	.	GRCh37	8	124089437	124089437	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	60	0	ENST00000287380.1:c.164A>C	p.Asp55Ala	p.D55A	ENST00000287380	NM_145647.3	55	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS6338.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGACTGCT	NONE	.	.	hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF1,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000287380	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000287380	Transcript	.	.	ENSG00000156787	30888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0)	.	TBC31_HUMAN	TBC1D31	HGNC	E5RG45_HUMAN	.	UPI000013DEAB	SNV	TBC1D31,missense_variant,p.Asp55Ala,ENST00000309336,;TBC1D31,missense_variant,p.Asp45Ala,ENST00000522276,;TBC1D31,missense_variant,p.Asp55Ala,ENST00000327098,;TBC1D31,missense_variant,p.Asp55Ala,ENST00000287380,;TBC1D31,5_prime_UTR_variant,,ENST00000522420,;TBC1D31,5_prime_UTR_variant,,ENST00000378080,;TBC1D31,5_prime_UTR_variant,,ENST00000520368,;TBC1D31,5_prime_UTR_variant,,ENST00000521676,;TBC1D31,5_prime_UTR_variant,,ENST00000518684,;TBC1D31,intron_variant,,ENST00000519418,;TBC1D31,missense_variant,p.Asp55Ala,ENST00000524307,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;	254	60	73	SUCCESS
TG	7038	.	GRCh37	8	134147018	134147018	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	57	0	ENST00000220616.4:c.8287T>A	p.Ser2763Thr	p.S2763T	ENST00000220616	NM_003235.4	2763	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS34944.1	8287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTCTAAG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated_low_confidence(0.14)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Ser2763Thr,ENST00000220616,;TG,missense_variant,p.Ser1133Thr,ENST00000542445,;TG,missense_variant,p.Ser167Thr,ENST00000521107,;TG,missense_variant,p.Ser2706Thr,ENST00000377869,;TG,missense_variant,p.Ser896Thr,ENST00000519543,;TG,missense_variant,p.Ser1219Thr,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522691,;	8327	57	71	SUCCESS
PARP10	84875	.	GRCh37	8	145058158	145058174	+	splice_donor_variant,intron_variant	Splice_Site	DEL	GCTCCCAGGGAGCCCTA	GCTCCCAGGGAGCCCTA	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	GCTCCCAGGGAGCCCTA	GCTCCCAGGGAGCCCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	106	0	ENST00000313028.7:c.1777+2_1777+18del		p.X593_splice	ENST00000313028	NM_032789.3	593		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34960.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAGGGCTCCCAGGGAGCCCTACCCAG	NONE	.	.	.	.	.	ENSP00000325618	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313028	Transcript	.	.	ENSG00000178685	25895	.	.	HIGH	7/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAR10_HUMAN	PARP10	HGNC	E9PSG8_HUMAN,E9PSE7_HUMAN,E9PQQ6_HUMAN,E9PPV8_HUMAN,E9PPU2_HUMAN,E9PM86_HUMAN,E9PLE8_HUMAN,E9PJI2_HUMAN,E9PIA6_HUMAN	.	UPI0000251FAB	deletion	PARP10,splice_donor_variant,,ENST00000313028,;PARP10,splice_donor_variant,,ENST00000525773,;PARP10,intron_variant,,ENST00000524918,;PARP10,downstream_gene_variant,,ENST00000528914,;PARP10,downstream_gene_variant,,ENST00000525879,;PARP10,downstream_gene_variant,,ENST00000529842,;PARP10,downstream_gene_variant,,ENST00000529311,;PARP10,downstream_gene_variant,,ENST00000528625,;PARP10,downstream_gene_variant,,ENST00000532311,;PARP10,downstream_gene_variant,,ENST00000531537,;PARP10,downstream_gene_variant,,ENST00000313059,;PARP10,downstream_gene_variant,,ENST00000528136,;PARP10,downstream_gene_variant,,ENST00000531707,;PARP10,downstream_gene_variant,,ENST00000525486,;PARP10,downstream_gene_variant,,ENST00000530478,;PARP10,downstream_gene_variant,,ENST00000534737,;PARP10,downstream_gene_variant,,ENST00000532660,;PARP10,downstream_gene_variant,,ENST00000533665,;PARP10,splice_donor_variant,,ENST00000527262,;PARP10,non_coding_transcript_exon_variant,,ENST00000526007,;PARP10,non_coding_transcript_exon_variant,,ENST00000528963,;PARP10,downstream_gene_variant,,ENST00000526985,;PARP10,downstream_gene_variant,,ENST00000528580,;	.	106	88	SUCCESS
ADAM32	203102	.	GRCh37	8	39022641	39022641	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs775677164	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	63	0	ENST00000379907.4:c.759A>C	p.Glu253Asp	p.E253D	ENST00000379907	NM_145004.5	253	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS47846.1	759	RADIA|MUTECT|MUSE	.	GATGAATTATT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000369238	.	9/25	.	.	.	.	.	.	.	.	rs775677164	9/25	PASS	ENST00000379907	Transcript	.	.	ENSG00000197140	15479	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.822)	.	tolerated(0.29)	.	ADA32_HUMAN	ADAM32	HGNC	E5RJY7_HUMAN	.	UPI000013F62F	SNV	ADAM32,missense_variant,p.Glu253Asp,ENST00000379907,;ADAM32,missense_variant,p.Glu253Asp,ENST00000519315,;ADAM32,missense_variant,p.Glu260Asp,ENST00000437682,;ADAM32,downstream_gene_variant,,ENST00000522506,;ADAM32,downstream_gene_variant,,ENST00000399831,;ADAM32,non_coding_transcript_exon_variant,,ENST00000518259,;	886	63	46	SUCCESS
ADAM32	203102	.	GRCh37	8	39022655	39022655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	28	54	0	ENST00000379907.4:c.773T>C	p.Phe258Ser	p.F258S	ENST00000379907	NM_145004.5	258	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS47846.1	773	RADIA|MUTECT|MUSE	.	AAAATTTTTAG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000369238	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000379907	Transcript	.	.	ENSG00000197140	15479	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA32_HUMAN	ADAM32	HGNC	E5RJY7_HUMAN	.	UPI000013F62F	SNV	ADAM32,missense_variant,p.Phe258Ser,ENST00000379907,;ADAM32,missense_variant,p.Phe258Ser,ENST00000519315,;ADAM32,missense_variant,p.Phe265Ser,ENST00000437682,;ADAM32,downstream_gene_variant,,ENST00000522506,;ADAM32,downstream_gene_variant,,ENST00000399831,;ADAM32,non_coding_transcript_exon_variant,,ENST00000518259,;	900	54	46	SUCCESS
SETX	23064	.	GRCh37	9	135202688	135202688	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	55	93	0	ENST00000224140.5:c.4297A>C	p.Thr1433Pro	p.T1433P	ENST00000224140	NM_015046.5	1433	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS6947.1	4297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTTGCTG	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336	.	.	ENSP00000224140	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000224140	Transcript	.	.	ENSG00000107290	445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.17)	.	SETX_HUMAN	SETX	HGNC	.	.	UPI0000210D28	SNV	SETX,missense_variant,p.Thr1433Pro,ENST00000372169,;SETX,missense_variant,p.Thr1433Pro,ENST00000393220,;SETX,missense_variant,p.Thr1433Pro,ENST00000224140,;	4480	93	80	SUCCESS
DIRAS2	54769	.	GRCh37	9	93375723	93375723	+	synonymous_variant	Silent	SNP	G	G	A	rs758953484	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	28	69	1	ENST00000375765.3:c.387C>T	p.Arg129=	p.R129=	ENST00000375765	NM_017594.3	129	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6687.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGCGGCT	NONE	byFrequency	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF178,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540	.	.	ENSP00000364919	.	2/2	.	.	.	.	.	.	.	.	rs758953484	2/2	PASS	ENST00000375765	Transcript	.	.	ENSG00000165023	19323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIRA2_HUMAN	DIRAS2	HGNC	.	.	UPI000004D253	SNV	DIRAS2,synonymous_variant,p.%3D,ENST00000375765,;	776	70	52	SUCCESS
WNK2	65268	.	GRCh37	9	96024181	96024181	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370654793	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	39	0	ENST00000297954.4:c.3152C>T	p.Ser1051Leu	p.S1051L	ENST00000297954	NM_001282394.1	1051	tCg/tTg	0	T:0	.	.	.	.	T	S/L	protein_coding	YES	.	3152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCGCCGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,Low_complexity_(Seg):seg	.	T:0.0001	ENSP00000297954	.	12/30	.	.	.	.	.	.	.	.	rs370654793	12/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Ser1047Leu,ENST00000432730,;WNK2,missense_variant,p.Ser663Leu,ENST00000427277,;WNK2,missense_variant,p.Ser663Leu,ENST00000349097,;WNK2,missense_variant,p.Ser655Leu,ENST00000411624,;WNK2,missense_variant,p.Ser1051Leu,ENST00000297954,;WNK2,missense_variant,p.Ser1051Leu,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,upstream_gene_variant,,ENST00000448251,;WNK2,downstream_gene_variant,,ENST00000448039,;WNK2,downstream_gene_variant,,ENST00000464625,;WNK2,upstream_gene_variant,,ENST00000478583,;	3152	39	30	SUCCESS
FRMPD4	9758	.	GRCh37	X	12736481	12736481	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	70	76	0	ENST00000380682.1:c.3536A>G	p.Lys1179Arg	p.K1179R	ENST00000380682	NM_014728.3	1179	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS35201.1	3536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAAGCTTC	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3	.	.	ENSP00000370057	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	tolerated_low_confidence(0.06)	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,missense_variant,p.Lys1179Arg,ENST00000380682,;	4042	76	85	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20179839	20179839	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	25	25	0	ENST00000379565.3:c.1882G>T	p.Glu628Ter	p.E628*	ENST00000379565	NM_004586.2	628	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14197.1	1882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCCTCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,stop_gained,p.Glu598Ter,ENST00000379548,;RPS6KA3,stop_gained,p.Glu628Ter,ENST00000379565,;RPS6KA3,stop_gained,p.Glu599Ter,ENST00000540702,;RPS6KA3,stop_gained,p.Glu600Ter,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000479809,;	2090	25	32	SUCCESS
DACH2	117154	.	GRCh37	X	85403711	85403711	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	120	108	0	ENST00000373125.4:c.87C>A	p.Tyr29Ter	p.Y29*	ENST00000373125	NM_053281.3	29	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS14455.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTACTCGAC	NONE	.	.	hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7	.	.	ENSP00000362217	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000373125	Transcript	.	.	ENSG00000126733	16814	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DACH2_HUMAN	DACH2	HGNC	.	.	UPI00000717B4	SNV	DACH2,stop_gained,p.Tyr29Ter,ENST00000373125,;DACH2,stop_gained,p.Tyr29Ter,ENST00000373131,;DACH2,stop_gained,p.Tyr29Ter,ENST00000461604,;DACH2,stop_gained,p.Tyr29Ter,ENST00000506327,;	87	108	142	SUCCESS
NAP1L3	4675	.	GRCh37	X	92928252	92928252	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1274817954	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	78	73	0	ENST00000373079.3:c.52G>T	p.Ala18Ser	p.A18S	ENST00000373079	NM_004538.5	18	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14465.1	52	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGCAACCC	NONE	.	.	hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38	.	.	ENSP00000362171	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373079	Transcript	.	.	ENSG00000186310	7639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	deleterious_low_confidence(0.03)	.	NP1L3_HUMAN	NAP1L3	HGNC	.	.	UPI0000167B31	SNV	NAP1L3,missense_variant,p.Ala11Ser,ENST00000475430,;NAP1L3,missense_variant,p.Ala18Ser,ENST00000373079,;FAM133A,upstream_gene_variant,,ENST00000355813,;FAM133A,upstream_gene_variant,,ENST00000538690,;FAM133A,upstream_gene_variant,,ENST00000332647,;FAM133A,upstream_gene_variant,,ENST00000322139,;	316	73	92	SUCCESS
KDM5D	8284	.	GRCh37	Y	21871366	21871366	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	34	0	ENST00000317961.4:c.2913A>T	p.Glu971Asp	p.E971D	ENST00000317961	NM_004653.4	971	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS14794.1	2913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTCCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF31,Pfam_domain:PF08429	.	.	ENSP00000322408	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000317961	Transcript	.	.	ENSG00000012817	11115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(0.22)	.	KDM5D_HUMAN	KDM5D	HGNC	.	.	UPI0000135A93	SNV	KDM5D,missense_variant,p.Glu914Asp,ENST00000382806,;KDM5D,missense_variant,p.Glu930Asp,ENST00000440077,;KDM5D,missense_variant,p.Glu971Asp,ENST00000317961,;KDM5D,missense_variant,p.Glu1002Asp,ENST00000541639,;KDM5D,upstream_gene_variant,,ENST00000415360,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,downstream_gene_variant,,ENST00000485154,;	3185	34	65	SUCCESS
ATRNL1	26033	.	GRCh37	10	117607492	117607492	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	64	186	0	ENST00000355044.3:c.4008T>A	p.Pro1336=	p.P1336=	ENST00000355044	NM_207303.2	1336	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7592.1	4008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	28/29	.	.	.	.	.	.	.	.	COSM2151486	28/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,synonymous_variant,p.%3D,ENST00000423111,;ATRNL1,synonymous_variant,p.%3D,ENST00000355044,;ATRNL1,synonymous_variant,p.%3D,ENST00000303745,;	4134	187	207	SUCCESS
LYZL1	84569	.	GRCh37	10	29599920	29599920	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	96	141	0	ENST00000375500.3:c.517C>A	p.Gln173Lys	p.Q173K	ENST00000375500	NM_032517.4	173	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31174.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCAAGGC	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF26,Pfam_domain:PF00062,Gene3D:1.10.530.10,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00137,Prints_domain:PR00135	.	.	ENSP00000364650	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375500	Transcript	.	.	ENSG00000120563	30502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated(0.88)	.	LYZL1_HUMAN	LYZL1	HGNC	H0YDZ2_HUMAN	.	UPI000013CA8C	SNV	LYZL1,missense_variant,p.Gln173Lys,ENST00000375500,;LYZL1,intron_variant,,ENST00000494304,;	574	141	175	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49661391	49661391	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	229	14	205	0	ENST00000249601.4:c.944A>G	p.Asn315Ser	p.N315S	ENST00000249601	NM_021226.3	315	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS58080.1	992	MUTECT|MUSE	.	GAATGTTAGGT	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521,PROSITE_profiles:PS50238	.	.	ENSP00000412461	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0.04)	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Asn321Ser,ENST00000435790,;ARHGAP22,missense_variant,p.Asn156Ser,ENST00000374170,;ARHGAP22,missense_variant,p.Asn315Ser,ENST00000249601,;ARHGAP22,missense_variant,p.Asn206Ser,ENST00000374172,;ARHGAP22,missense_variant,p.Asn331Ser,ENST00000417912,;ARHGAP22,missense_variant,p.Asn225Ser,ENST00000417247,;ARHGAP22,upstream_gene_variant,,ENST00000477708,;ARHGAP22,non_coding_transcript_exon_variant,,ENST00000515523,;ARHGAP22,downstream_gene_variant,,ENST00000471013,;ARHGAP22,downstream_gene_variant,,ENST00000489984,;ARHGAP22,3_prime_UTR_variant,,ENST00000460425,;	1148	205	243	SUCCESS
RP11-96C23.11	0	.	GRCh37	10	88768547	88768547	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	956	30	897	0	ENST00000437689.3:n.625C>T		p.*209*	ENST00000437689				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|MUSE	.	AAGTCCCAGGA	NONE	.	995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451760	Transcript	.	.	ENSG00000229969	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-96C23.10	Clone_based_vega_gene	.	.	.	SNV	RP11-96C23.10,downstream_gene_variant,,ENST00000451760,;AGAP11,non_coding_transcript_exon_variant,,ENST00000444431,;RP11-96C23.5,non_coding_transcript_exon_variant,,ENST00000433214,;RP11-96C23.14,intron_variant,,ENST00000444180,;RP11-96C23.11,non_coding_transcript_exon_variant,,ENST00000437689,;	.	897	987	SUCCESS
TCTN3	26123	.	GRCh37	10	97447351	97447351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	106	129	0	ENST00000371217.5:c.625A>T	p.Arg209Trp	p.R209W	ENST00000371217		209	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31258.2	625	RADIA|MUTECT|MUSE	.	CACCCTGTAAA	NONE	.	.	hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF4,Pfam_domain:PF07773	.	.	ENSP00000360261	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000371217	Transcript	1	.	ENSG00000119977	24519	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	.	TCTN3	HGNC	.	.	UPI000004BA6E	SNV	TCTN3,missense_variant,p.Arg227Trp,ENST00000265993,;TCTN3,missense_variant,p.Arg209Trp,ENST00000371209,;TCTN3,missense_variant,p.Arg209Trp,ENST00000371217,;TCTN3,intron_variant,,ENST00000430368,;TCTN3,intron_variant,,ENST00000497399,;	649	129	192	SUCCESS
DUSP8	1850	.	GRCh37	11	1586842	1586842	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs571594390	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	99	0	ENST00000331588.4:c.215C>T	p.Pro72Leu	p.P72L	ENST00000331588		72	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS7724.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGCTGG	NONE	by1000G	.	PROSITE_profiles:PS50206,hmmpanther:PTHR10159:SF108,hmmpanther:PTHR10159,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821	A:0	.	ENSP00000380530	A:0.001	2/7	.	.	.	.	.	.	.	.	rs571594390	2/7	PASS	ENST00000397374	Transcript	.	A:0.0002	ENSG00000184545	3074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.408)	A:0	tolerated(0.22)	.	DUS8_HUMAN	DUSP8	HGNC	.	.	UPI000000DAD1	SNV	DUSP8,missense_variant,p.Pro72Leu,ENST00000397374,;DUSP8,missense_variant,p.Pro72Leu,ENST00000331588,;	343	99	90	SUCCESS
RAG1	5896	.	GRCh37	11	36597714	36597714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	106	0	ENST00000299440.5:c.2860G>T	p.Gly954Cys	p.G954C	ENST00000299440	NM_000448.2	954	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7902.1	2860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATGGCTCC	NONE	.	.	hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,missense_variant,p.Gly954Cys,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	2972	106	107	SUCCESS
OR5D18	219438	.	GRCh37	11	55587248	55587248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	414	25	423	1	ENST00000333976.4:c.143T>C	p.Val48Ala	p.V48A	ENST00000333976	NM_001001952.1	48	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31510.1	143	MUTECT|MUSE	.	GATTGTGATCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.61)	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Val48Ala,ENST00000333976,;	163	424	439	SUCCESS
OR8K1	390157	.	GRCh37	11	56113637	56113637	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	285	20	340	0	ENST00000279783.2:c.123T>C	p.Tyr41=	p.Y41=	ENST00000279783	NM_001002907.1	41	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS31528.1	123	MUTECT|MUSE	.	ATATATCTGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,synonymous_variant,p.%3D,ENST00000279783,;	217	340	305	SUCCESS
LRRC55	219527	.	GRCh37	11	56949315	56949315	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	13	0	ENST00000497933.1:c.-53G>C		p.*18*	ENST00000497933	NM_001005210.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31539.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGAAGCC	NONE	.	.	.	.	.	ENSP00000419542	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000497933	Transcript	.	.	ENSG00000183908	32324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC55_HUMAN	LRRC55	HGNC	.	.	UPI00001C0E6F	SNV	LRRC55,5_prime_UTR_variant,,ENST00000497933,;	95	13	20	SUCCESS
SMTNL1	219537	.	GRCh37	11	57317551	57317551	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	123	0	ENST00000399154.2:c.1340T>G	p.Val447Gly	p.V447G	ENST00000399154		447	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	.	1505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGTGCAGA	NONE	.	.	hmmpanther:PTHR25069	.	.	ENSP00000406485	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000457912	Transcript	.	.	ENSG00000214872	32394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SMTNL1	HGNC	E9PPJ3_HUMAN,C9J621_HUMAN	.	UPI0000DD8085	SNV	SMTNL1,missense_variant,p.Val484Gly,ENST00000527972,;SMTNL1,missense_variant,p.Val447Gly,ENST00000399154,;SMTNL1,missense_variant,p.Val502Gly,ENST00000457912,;UBE2L6,downstream_gene_variant,,ENST00000287156,;UBE2L6,downstream_gene_variant,,ENST00000340573,;UBE2L6,downstream_gene_variant,,ENST00000527022,;UBE2L6,downstream_gene_variant,,ENST00000526659,;UBE2L6,downstream_gene_variant,,ENST00000528275,;	1505	123	110	SUCCESS
MS4A6A	64231	.	GRCh37	11	59947427	59947427	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	72	144	0	ENST00000530839.1:c.159C>A	p.Ile53=	p.I53=	ENST00000530839	NM_152852.2	53	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS58134.1	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGATCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF53,Pfam_domain:PF04103	.	.	ENSP00000403212	.	3/6	.	.	.	.	.	.	.	.	COSM929162,COSM929163	3/6	PASS	ENST00000412309	Transcript	.	.	ENSG00000110077	13375	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	MS4A6A	HGNC	F8W9K1_HUMAN,E9PNG6_HUMAN,E9PMN8_HUMAN,E9PL03_HUMAN	.	UPI0001F77AB4	SNV	MS4A6A,synonymous_variant,p.%3D,ENST00000528851,;MS4A6A,synonymous_variant,p.%3D,ENST00000534596,;MS4A6A,synonymous_variant,p.%3D,ENST00000529054,;MS4A6A,synonymous_variant,p.%3D,ENST00000420732,;MS4A6A,synonymous_variant,p.%3D,ENST00000323961,;MS4A6A,synonymous_variant,p.%3D,ENST00000532169,;MS4A6A,synonymous_variant,p.%3D,ENST00000530839,;MS4A6A,synonymous_variant,p.%3D,ENST00000412309,;MS4A6A,intron_variant,,ENST00000533023,;MS4A6A,intron_variant,,ENST00000533989,;MS4A6A,intron_variant,,ENST00000426738,;MS4A6A,downstream_gene_variant,,ENST00000531531,;MS4A6A,downstream_gene_variant,,ENST00000533409,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000529906,;MS4A6A,downstream_gene_variant,,ENST00000528925,;MS4A6A,synonymous_variant,p.%3D,ENST00000527254,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000530179,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000526677,;MS4A6A,intron_variant,,ENST00000525549,;MS4A6A,upstream_gene_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000533660,;MS4A6A,downstream_gene_variant,,ENST00000526697,;	261	144	141	SUCCESS
DNHD1	144132	.	GRCh37	11	6566486	6566486	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	64	0	ENST00000254579.6:c.4317T>A	p.Pro1439=	p.P1439=	ENST00000254579	NM_144666.2	1439	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS44532.1	4317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTCTGCA	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000254579	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,synonymous_variant,p.%3D,ENST00000527990,;DNHD1,synonymous_variant,p.%3D,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000533649,;	4881	64	43	SUCCESS
TPP1	1200	.	GRCh37	11	6638385	6638385	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs56144125	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	138	0	ENST00000299427.6:c.509-1G>A		p.X170_splice	ENST00000299427	NM_000391.3	170		0	G:0	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS7770.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CCCCACTGTAG	NONE	byCluster|by1000G	.	.	T:0	G:0.001	ENSP00000299427	T:0.001	.	.	.	.	.	.	.	.	.	CS991344,CS971663,rs56144125	.	PASS	ENST00000299427	Transcript	.	T:0.0002	ENSG00000166340	2073	.	.	HIGH	5/12	PRIMARY	.	.	.	.	4	1,1,1	.	.	.	T:0	.	.	TPP1_HUMAN	TPP1	HGNC	E9PME9_HUMAN,D3DQU2_HUMAN	.	UPI0000001109	SNV	TPP1,splice_acceptor_variant,,ENST00000533371,;TPP1,splice_acceptor_variant,,ENST00000299427,;TPP1,intron_variant,,ENST00000436873,;TAF10,upstream_gene_variant,,ENST00000299424,;TPP1,downstream_gene_variant,,ENST00000528657,;DCHS1,downstream_gene_variant,,ENST00000299441,;RP11-732A19.9,upstream_gene_variant,,ENST00000545572,;RP11-732A19.5,upstream_gene_variant,,ENST00000526456,;TPP1,splice_acceptor_variant,,ENST00000534644,;TPP1,non_coding_transcript_exon_variant,,ENST00000528807,;TPP1,non_coding_transcript_exon_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000524924,;TAF10,upstream_gene_variant,,ENST00000531760,;TPP1,downstream_gene_variant,,ENST00000530040,;TPP1,downstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524611,;TPP1,upstream_gene_variant,,ENST00000532191,;TPP1,splice_acceptor_variant,,ENST00000528571,;TPP1,non_coding_transcript_exon_variant,,ENST00000428886,;TPP1,downstream_gene_variant,,ENST00000531754,;TPP1,downstream_gene_variant,,ENST00000528917,;TAF10,upstream_gene_variant,,ENST00000532344,;	.	138	120	SUCCESS
SHANK2	22941	.	GRCh37	11	70333710	70333710	+	synonymous_variant	Silent	SNP	C	C	T	rs141694314	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	133	0	ENST00000423696.2:c.1551G>A	p.Pro517=	p.P517=	ENST00000423696		517	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	.	2691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACGGGGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	32/33	.	.	.	.	.	.	.	.	rs141694314,COSM931503,COSM931504	32/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,synonymous_variant,p.%3D,ENST00000409161,;SHANK2,synonymous_variant,p.%3D,ENST00000424924,;SHANK2,synonymous_variant,p.%3D,ENST00000423696,;SHANK2,synonymous_variant,p.%3D,ENST00000294018,;SHANK2,synonymous_variant,p.%3D,ENST00000338508,;SHANK2,synonymous_variant,p.%3D,ENST00000449833,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000426687,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000449116,;	2691	133	112	SUCCESS
FAT3	120114	.	GRCh37	11	92565042	92565042	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	112	0	ENST00000298047.6:c.9736C>T	p.Pro3246Ser	p.P3246S	ENST00000298047		3246	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	.	9736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGCCTGAG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Pro3246Ser,ENST00000298047,;FAT3,missense_variant,p.Pro3246Ser,ENST00000409404,;FAT3,missense_variant,p.Pro3096Ser,ENST00000525166,;	9753	112	63	SUCCESS
PANX1	24145	.	GRCh37	11	93911635	93911635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	12	255	0	ENST00000227638.3:c.422T>C	p.Phe141Ser	p.F141S	ENST00000227638	NM_015368.3	141	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS8296.1	422	MUTECT|MUSE	.	GAAGTTTATCA	NONE	.	.	Pfam_domain:PF00876,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF5,PROSITE_profiles:PS51013	.	.	ENSP00000227638	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000227638	Transcript	.	.	ENSG00000110218	8599	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PANX1_HUMAN	PANX1	HGNC	.	.	UPI000004C63F	SNV	PANX1,missense_variant,p.Phe141Ser,ENST00000436171,;PANX1,missense_variant,p.Phe141Ser,ENST00000227638,;	807	255	211	SUCCESS
NOS1	4842	.	GRCh37	12	117696859	117696859	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	34	128	0	ENST00000317775.6:c.2444G>T	p.Gly815Val	p.G815V	ENST00000317775	NM_000620.4	815	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS55890.1	2444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCCAAAG	NONE	.	.	Prints_domain:PR00369,Superfamily_domains:SSF52218,PIRSF_domain:PIRSF000333,Pfam_domain:PF00258,Gene3D:3.40.50.360,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,PROSITE_profiles:PS50902	.	.	ENSP00000337459	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Gly815Val,ENST00000317775,;NOS1,missense_variant,p.Gly815Val,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	2449	128	143	SUCCESS
DNAH10	196385	.	GRCh37	12	124399402	124399402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	85	0	ENST00000409039.3:c.10224G>T	p.Trp3408Cys	p.W3408C	ENST00000409039	NM_207437.3	3408	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS9255.2	10224	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGGGATC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000386770	.	61/78	.	.	.	.	.	.	.	.	.	61/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Trp3408Cys,ENST00000409039,;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,downstream_gene_variant,,ENST00000542348,;	10249	85	116	SUCCESS
ABCD2	225	.	GRCh37	12	39973407	39973407	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	26	0	ENST00000308666.3:c.1807A>T	p.Met603Leu	p.M603L	ENST00000308666	NM_005164.3	603	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS8734.1	1807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATAACAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000310688	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000308666	Transcript	.	.	ENSG00000173208	66	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.74)	.	ABCD2_HUMAN	ABCD2	HGNC	.	.	UPI000004C4C6	SNV	ABCD2,missense_variant,p.Met603Leu,ENST00000308666,;	1943	26	58	SUCCESS
LRRK2	120892	.	GRCh37	12	40745384	40745384	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371284884	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	9	176	0	ENST00000298910.7:c.6425G>A	p.Arg2142Lys	p.R2142K	ENST00000298910	NM_198578.3	2142	aGa/aAa	0	A:0.0002	.	.	.	.	A	R/K	protein_coding	YES	CCDS31774.1	6425	MUTECT|MUSE	.	GACGAGACGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	.	A:0	ENSP00000298910	.	44/51	.	.	.	.	.	.	.	.	rs371284884	44/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.13)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Arg2142Lys,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	6483	176	166	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43769288	43769288	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	264	14	235	0	ENST00000389420.3:c.5340T>A	p.Phe1780Leu	p.F1780L	ENST00000389420	NM_025003.3	1780	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS31778.2	5340	MUTECT|MUSE	.	CCATTAAAAGG	NONE	.	.	PROSITE_profiles:PS51046,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF08685	.	.	ENSP00000374071	.	36/39	.	.	.	.	.	.	.	.	.	36/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.276)	.	tolerated(0.11)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Phe1780Leu,ENST00000389420,;	5340	235	278	SUCCESS
LRP1	4035	.	GRCh37	12	57599015	57599015	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	63	0	ENST00000243077.3:c.11318A>G	p.Glu3773Gly	p.E3773G	ENST00000243077	NM_002332.2	3773	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8932.1	11318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00181,SMART_domains:SM00192,SMART_domains:SM00179,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	73/89	.	.	.	.	.	.	.	.	.	73/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Glu3773Gly,ENST00000243077,;LRP1,downstream_gene_variant,,ENST00000555124,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,non_coding_transcript_exon_variant,,ENST00000451724,;LRP1,downstream_gene_variant,,ENST00000555941,;LRP1,downstream_gene_variant,,ENST00000556247,;	11784	63	64	SUCCESS
A2ML1	144568	.	GRCh37	12	9020503	9020503	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	86	200	1	ENST00000299698.7:c.3783G>A	p.Glu1261=	p.E1261=	ENST00000299698	NM_144670.4	1261	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS8596.2	3783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGATCAA	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412	.	.	ENSP00000299698	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,synonymous_variant,p.%3D,ENST00000299698,;A2ML1,synonymous_variant,p.%3D,ENST00000541459,;A2ML1,synonymous_variant,p.%3D,ENST00000539547,;A2ML1,upstream_gene_variant,,ENST00000537475,;	3963	201	227	SUCCESS
COL4A1	1282	.	GRCh37	13	110804702	110804702	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs201012509	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	75	0	ENST00000375820.4:c.4907T>C	p.Ile1636Thr	p.I1636T	ENST00000375820	NM_001845.4	1636	aTa/aCa	0	.	G:0	.	G:0	.	G	I/T	protein_coding	YES	CCDS9511.1	4907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTATGGTG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51403,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Gene3D:1t60D00,Pfam_domain:PF01413,SMART_domains:SM00111,Superfamily_domains:SSF56436	G:0.001	.	ENSP00000364979	G:0	51/52	.	.	.	.	.	.	.	.	rs201012509	51/52	PASS	ENST00000375820	Transcript	.	G:0.0002	ENSG00000187498	2202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	G:0	.	.	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	SNV	COL4A1,missense_variant,p.Ile1636Thr,ENST00000375820,;	5029	75	117	SUCCESS
PDX1	3651	.	GRCh37	13	28498525	28498525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	56	88	0	ENST00000381033.4:c.539C>T	p.Ala180Val	p.A180V	ENST00000381033	NM_000209.3	180	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9327.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCTGTCA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF180,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000370421	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381033	Transcript	.	.	ENSG00000139515	6107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDX1_HUMAN	PDX1	HGNC	.	.	UPI000012D7D9	SNV	PDX1,missense_variant,p.Ala180Val,ENST00000381033,;PDX1-AS1,upstream_gene_variant,,ENST00000499662,;	658	88	71	SUCCESS
RB1	5925	.	GRCh37	13	48881512	48881512	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	159	224	0	ENST00000267163.4:c.234G>A	p.Trp78Ter	p.W78*	ENST00000267163	NM_000321.2	78	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS31973.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGGAGAA	BUFFER|p.W75*|c.225G>A|3,BUFFER|p.S82P|c.244T>C|6,BUFFER|p.S82P|c.244T>C|6	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	2/27	.	.	.	.	.	.	.	.	COSM13406	2/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,stop_gained,p.Trp78Ter,ENST00000267163,;LINC00441,upstream_gene_variant,,ENST00000436963,;LINC00441,upstream_gene_variant,,ENST00000433480,;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	372	224	214	SUCCESS
DCT	1638	.	GRCh37	13	95131263	95131263	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763411727	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	40	91	0	ENST00000377028.5:c.247C>T	p.Arg83Cys	p.R83C	ENST00000377028	NM_001922.3	83	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45060.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACGGTCAT	CODON|p.R83H|c.248G>A|3	byFrequency	.	Superfamily_domains:SSF48056,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4	.	.	ENSP00000392762	.	1/10	.	.	.	.	.	.	.	.	rs763411727,COSM1368018,COSM1368017	1/10	PASS	ENST00000446125	Transcript	.	.	ENSG00000080166	2709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	TYRP2_HUMAN	DCT	HGNC	Q9NQD8_HUMAN,Q0PK43_HUMAN	.	UPI0000E13F02	SNV	DCT,missense_variant,p.Arg83Cys,ENST00000377028,;DCT,missense_variant,p.Arg83Cys,ENST00000446125,;DCT,non_coding_transcript_exon_variant,,ENST00000472871,;	674	91	86	SUCCESS
INF2	64423	.	GRCh37	14	105174811	105174811	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530285485	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	77	0	ENST00000392634.4:c.1774G>A	p.Ala592Thr	p.A592T	ENST00000392634	NM_022489.3	592	Gcc/Acc	0	.	A:0	.	A:0.0014	.	A	A/T	protein_coding	YES	CCDS9989.2	1774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGCCGAG	NONE	by1000G	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498	A:0	.	ENSP00000376410	A:0	9/23	.	.	.	.	.	.	.	.	rs530285485	9/23	PASS	ENST00000392634	Transcript	1	A:0.0002	ENSG00000203485	23791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	tolerated(0.55)	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,missense_variant,p.Ala60Thr,ENST00000252527,;INF2,missense_variant,p.Ala592Thr,ENST00000330634,;INF2,missense_variant,p.Ala592Thr,ENST00000392634,;INF2,downstream_gene_variant,,ENST00000398337,;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000477497,;INF2,upstream_gene_variant,,ENST00000480763,;	1886	77	74	SUCCESS
BTBD6	90135	.	GRCh37	14	105716439	105716439	+	synonymous_variant	Silent	SNP	C	C	T	rs754243515	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	22	44	0	ENST00000392554.3:c.888C>T	p.Gly296=	p.G296=	ENST00000392554		296	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10002.2	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGGCGCTGC	NONE	byFrequency	.	hmmpanther:PTHR24413:SF4,hmmpanther:PTHR24413,SMART_domains:SM00875	.	.	ENSP00000376337	.	4/4	.	.	.	.	.	.	.	.	rs754243515	4/4	PASS	ENST00000392554	Transcript	.	.	ENSG00000184887	19897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBD6_HUMAN	BTBD6	HGNC	F8VPC8_HUMAN	.	UPI00001FDD27	SNV	BTBD6,synonymous_variant,p.%3D,ENST00000536364,;BTBD6,synonymous_variant,p.%3D,ENST00000392554,;BTBD6,synonymous_variant,p.%3D,ENST00000537513,;BTBD6,synonymous_variant,p.%3D,ENST00000327471,;BTBD6,synonymous_variant,p.%3D,ENST00000463376,;BRF1,intron_variant,,ENST00000379937,;BRF1,intron_variant,,ENST00000546417,;BRF1,intron_variant,,ENST00000546474,;BRF1,intron_variant,,ENST00000327359,;BRF1,intron_variant,,ENST00000440513,;BRF1,upstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000550375,;BRF1,downstream_gene_variant,,ENST00000550692,;BRF1,upstream_gene_variant,,ENST00000552127,;BRF1,upstream_gene_variant,,ENST00000392557,;BRF1,upstream_gene_variant,,ENST00000446501,;BRF1,upstream_gene_variant,,ENST00000551787,;BRF1,upstream_gene_variant,,ENST00000379932,;BTBD6,non_coding_transcript_exon_variant,,ENST00000392553,;	1185	44	35	SUCCESS
LTB4R	1241	.	GRCh37	14	24780969	24780969	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	41	184	0	ENST00000345363.3:c.-57G>A		p.*19*	ENST00000345363				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9625.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCCCTT	NONE	.	.	.	.	.	ENSP00000445772	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000543919	Transcript	.	.	ENSG00000213906	19260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LT4R2_HUMAN	LTB4R2	HGNC	E9PNJ6_HUMAN,E9PIC1_HUMAN	.	UPI000003C105	SNV	LTB4R2,3_prime_UTR_variant,,ENST00000543919,;LTB4R,5_prime_UTR_variant,,ENST00000345363,;LTB4R2,3_prime_UTR_variant,,ENST00000533293,;LTB4R2,3_prime_UTR_variant,,ENST00000528054,;LTB4R,intron_variant,,ENST00000553481,;LTB4R2,downstream_gene_variant,,ENST00000527924,;LTB4R,upstream_gene_variant,,ENST00000396782,;LTB4R2,downstream_gene_variant,,ENST00000530080,;CIDEB,upstream_gene_variant,,ENST00000554411,;CIDEB,upstream_gene_variant,,ENST00000336557,;CIDEB,upstream_gene_variant,,ENST00000258807,;NOP9,downstream_gene_variant,,ENST00000267425,;LTB4R,upstream_gene_variant,,ENST00000396789,;LTB4R,upstream_gene_variant,,ENST00000556141,;CIDEB,upstream_gene_variant,,ENST00000555817,;CIDEB,upstream_gene_variant,,ENST00000555471,;	1270	184	143	SUCCESS
FOXG1	2290	.	GRCh37	14	29237217	29237217	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	119	0	ENST00000313071.4:c.732C>A	p.Arg244=	p.R244=	ENST00000313071	NM_005249.4	244	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9636.1	732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGCCACTA	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,synonymous_variant,p.%3D,ENST00000313071,;FOXG1,synonymous_variant,p.%3D,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	1101	119	78	SUCCESS
MIS18BP1	55320	.	GRCh37	14	45716510	45716510	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	48	0	ENST00000310806.4:c.-21G>A		p.*7*	ENST00000310806	NM_018353.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9684.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACCAAGTT	NONE	.	.	.	.	.	ENSP00000309790	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000310806	Transcript	.	.	ENSG00000129534	20190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M18BP_HUMAN	MIS18BP1	HGNC	C9J2Q8_HUMAN	.	UPI00001FD488	SNV	MIS18BP1,5_prime_UTR_variant,,ENST00000451174,;MIS18BP1,5_prime_UTR_variant,,ENST00000310806,;MIS18BP1,intron_variant,,ENST00000494512,;MIS18BP1,upstream_gene_variant,,ENST00000492652,;MIS18BP1,5_prime_UTR_variant,,ENST00000454990,;MIS18BP1,upstream_gene_variant,,ENST00000453142,;	439	48	29	SUCCESS
ATL1	51062	.	GRCh37	14	51087446	51087446	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	112	0	ENST00000358385.6:c.990+2T>A		p.X330_splice	ENST00000358385	NM_015915.4	330		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9700.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTATCAC	NONE	.	.	.	.	.	ENSP00000351155	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358385	Transcript	.	.	ENSG00000198513	11231	.	.	HIGH	9/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATLA1_HUMAN	ATL1	HGNC	G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN	.	UPI0000073893	SNV	ATL1,splice_donor_variant,,ENST00000354525,;ATL1,splice_donor_variant,,ENST00000441560,;ATL1,splice_donor_variant,,ENST00000357032,;ATL1,splice_donor_variant,,ENST00000358385,;ATL1,intron_variant,,ENST00000555266,;	.	113	86	SUCCESS
GALNT16	57452	.	GRCh37	14	69814760	69814760	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	37	0	ENST00000337827.4:c.1539+41A>T		p.*513*	ENST00000337827	NM_020692.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32107.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGAGGGGC	NONE	.	.	.	.	.	ENSP00000336729	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337827	Transcript	.	.	ENSG00000100626	23233	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLT16_HUMAN	GALNT16	HGNC	Q68VJ8_HUMAN	.	UPI000004D296	SNV	GALNT16,missense_variant,p.Glu527Val,ENST00000553669,;GALNT16,intron_variant,,ENST00000448469,;GALNT16,intron_variant,,ENST00000337827,;GALNT16,upstream_gene_variant,,ENST00000556829,;GALNT16,missense_variant,p.Glu527Val,ENST00000553471,;	.	37	50	SUCCESS
MLH3	27030	.	GRCh37	14	75513372	75513372	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	52	301	0	ENST00000355774.2:c.2987del	p.Gly996GlufsTer10	p.G996Efs*10	ENST00000355774	NM_001040108.1	996	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32123.1	2987	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTTCCTATC	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7	.	.	ENSP00000348020	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	deletion	MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000556257,;MLH3,frameshift_variant,p.Gly53GlufsTer10,ENST00000553713,;MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000238662,;MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000556740,;MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000355774,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000544985,;MLH3,downstream_gene_variant,,ENST00000557648,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,non_coding_transcript_exon_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	3203	301	299	SUCCESS
TMED10	10972	.	GRCh37	14	75614379	75614379	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	55	150	0	ENST00000303575.4:c.399A>C	p.Lys133Asn	p.K133N	ENST00000303575	NM_006827.5	133	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS9840.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTTTTCGC	NONE	.	.	PROSITE_profiles:PS50866,hmmpanther:PTHR22811:SF58,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000303145	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000303575	Transcript	.	.	ENSG00000170348	16998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.02)	.	TMEDA_HUMAN	TMED10	HGNC	B4DZH3_HUMAN	.	UPI0000137068	SNV	TMED10,missense_variant,p.Lys133Asn,ENST00000303575,;TMED10,non_coding_transcript_exon_variant,,ENST00000557670,;TMED10,missense_variant,p.Lys133Asn,ENST00000555873,;TMED10,non_coding_transcript_exon_variant,,ENST00000556969,;TMED10,non_coding_transcript_exon_variant,,ENST00000555036,;TMED10,non_coding_transcript_exon_variant,,ENST00000555085,;	451	150	116	SUCCESS
SYNE3	161176	.	GRCh37	14	95918595	95918595	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	106	0	ENST00000334258.5:c.1263G>A	p.Gln421=	p.Q421=	ENST00000334258	NM_152592.3	421	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9935.1	1263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCCTGGAT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	.	.	ENSP00000334308	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000334258	Transcript	.	.	ENSG00000176438	19861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,synonymous_variant,p.%3D,ENST00000554873,;SYNE3,synonymous_variant,p.%3D,ENST00000334258,;SYNE3,synonymous_variant,p.%3D,ENST00000557275,;SYNE3,synonymous_variant,p.%3D,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	1278	106	95	SUCCESS
AQR	9716	.	GRCh37	15	35212596	35212596	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	70	0	ENST00000156471.5:c.1158G>T	p.Leu386Phe	p.L386F	ENST00000156471	NM_014691.2	386	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS42013.1	1158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACAAGCA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901	.	.	ENSP00000156471	.	14/35	.	.	.	.	.	.	.	.	.	14/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.466)	.	tolerated(0.06)	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,missense_variant,p.Leu386Phe,ENST00000156471,;AQR,missense_variant,p.Leu386Phe,ENST00000543879,;	1384	70	66	SUCCESS
FSIP1	161835	.	GRCh37	15	39909936	39909936	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	50	119	0	ENST00000350221.3:c.1699G>A	p.Asp567Asn	p.D567N	ENST00000350221	NM_152597.4	567	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10050.1	1699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCTGCTA	NONE	.	.	hmmpanther:PTHR22012,hmmpanther:PTHR22012:SF1	.	.	ENSP00000280236	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000350221	Transcript	.	.	ENSG00000150667	21674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	.	tolerated(0.08)	.	FSIP1_HUMAN	FSIP1	HGNC	.	.	UPI000006F96D	SNV	FSIP1,missense_variant,p.Asp567Asn,ENST00000350221,;	1909	119	94	SUCCESS
CHAC1	79094	.	GRCh37	15	41247963	41247963	+	synonymous_variant	Silent	SNP	G	G	A	rs147315683	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	18	0	ENST00000446533.3:c.786G>A	p.Ala262=	p.A262=	ENST00000446533	NM_024111.3	262	gcG/gcA	0	A:0.0014	A:0.0015	.	A:0	.	A	A	protein_coding	YES	CCDS10070.2	786	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCTGGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12192,hmmpanther:PTHR12192:SF3	A:0	A:0	ENSP00000398105	A:0	3/3	.	.	.	.	.	.	.	.	rs147315683	3/3	PASS	ENST00000446533	Transcript	.	A:0.0004	ENSG00000128965	28680	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CHAC1_HUMAN	CHAC1	HGNC	H0YK90_HUMAN	.	UPI00004FB51D	SNV	CHAC1,synonymous_variant,p.%3D,ENST00000487220,;CHAC1,synonymous_variant,p.%3D,ENST00000446533,;CHAC1,synonymous_variant,p.%3D,ENST00000444189,;	1095	18	25	SUCCESS
MAPKBP1	23005	.	GRCh37	15	42115228	42115228	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1308417466	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	52	0	ENST00000456763.2:c.3424G>A	p.Ala1142Thr	p.A1142T	ENST00000456763	NM_001128608.1	1142	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45239.1	3424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGCCAAT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000393099	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000456763	Transcript	.	.	ENSG00000137802	29536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.27)	.	MABP1_HUMAN	MAPKBP1	HGNC	D6R9F7_HUMAN	.	UPI00002375CB	SNV	MAPKBP1,missense_variant,p.Ala975Thr,ENST00000260357,;MAPKBP1,missense_variant,p.Ala1136Thr,ENST00000457542,;MAPKBP1,missense_variant,p.Ala1142Thr,ENST00000456763,;MAPKBP1,missense_variant,p.Ala1019Thr,ENST00000221214,;MAPKBP1,intron_variant,,ENST00000514566,;RP11-23P13.4,downstream_gene_variant,,ENST00000512295,;RP11-23P13.4,downstream_gene_variant,,ENST00000510176,;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000512433,;MAPKBP1,downstream_gene_variant,,ENST00000506301,;MAPKBP1,downstream_gene_variant,,ENST00000508050,;MAPKBP1,downstream_gene_variant,,ENST00000502695,;	3620	52	54	SUCCESS
MYEF2	50804	.	GRCh37	15	48470360	48470360	+	synonymous_variant	Silent	SNP	C	C	T	rs567102663	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	12	0	ENST00000324324.7:c.75G>A	p.Pro25=	p.P25=	ENST00000324324	NM_016132.3	25	ccG/ccA	0	.	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS32230.1	75	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGGCTC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003	A:0.001	.	ENSP00000316950	A:0	1/17	.	.	.	.	.	.	.	.	rs567102663	1/17	PASS	ENST00000324324	Transcript	.	A:0.0004	ENSG00000104177	17940	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,synonymous_variant,p.%3D,ENST00000324324,;MYEF2,synonymous_variant,p.%3D,ENST00000267836,;MYEF2,non_coding_transcript_exon_variant,,ENST00000559862,;MYEF2,synonymous_variant,p.%3D,ENST00000561151,;MYEF2,synonymous_variant,p.%3D,ENST00000561351,;	355	12	18	SUCCESS
AGBL1	123624	.	GRCh37	15	86810275	86810275	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	131	263	0	ENST00000441037.2:c.1668A>G	p.Ser556=	p.S556=	ENST00000441037	NM_152336.2	556	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS58398.1	1668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCAGGAAA	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756	.	.	ENSP00000413001	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	1763	263	236	SUCCESS
FAM174B	400451	.	GRCh37	15	93198581	93198581	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	90	0	ENST00000327355.5:c.309C>A	p.Thr103=	p.T103=	ENST00000327355	NM_207446.2	103	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45355.1	309	MUTECT|VARSCANS	.	AGGAGGGTGGT	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF06679	.	.	ENSP00000329040	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000327355	Transcript	.	.	ENSG00000185442	34339	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F174B_HUMAN	FAM174B	HGNC	.	.	UPI00001FEBF9	SNV	FAM174B,synonymous_variant,p.%3D,ENST00000327355,;FAM174B,5_prime_UTR_variant,,ENST00000555748,;FAM174B,intron_variant,,ENST00000556824,;FAM174B,intron_variant,,ENST00000557480,;FAM174B,intron_variant,,ENST00000557398,;FAM174B,upstream_gene_variant,,ENST00000555696,;FAM174B,non_coding_transcript_exon_variant,,ENST00000555613,;	608	90	62	SUCCESS
MYH11	4629	.	GRCh37	16	15931795	15931795	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	91	172	0	ENST00000300036.5:c.315G>A	p.Leu105=	p.L105=	ENST00000300036	NM_002474.2	105	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45423.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCAGGTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000379616	.	2/42	.	.	.	.	.	.	.	.	.	2/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,synonymous_variant,p.%3D,ENST00000452625,;MYH11,synonymous_variant,p.%3D,ENST00000576790,;MYH11,synonymous_variant,p.%3D,ENST00000300036,;MYH11,synonymous_variant,p.%3D,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000571505,;	403	172	199	SUCCESS
DOC2A	8448	.	GRCh37	16	30018188	30018188	+	synonymous_variant	Silent	SNP	G	G	T	rs370463371	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	40	0	ENST00000350119.4:c.796C>A	p.Arg266=	p.R266=	ENST00000350119	NM_003586.2	266	Cgg/Agg	0	C:0.0002	.	.	.	.	T	R	protein_coding	YES	CCDS10666.1	796	RADIA|MUSE|VARSCANS	.	TCCCCGGCGCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Prints_domain:PR00399,Superfamily_domains:SSF49562,PIRSF_domain:PIRSF036931,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF204,hmmpanther:PTHR10024	.	C:0	ENSP00000340017	.	8/11	.	.	.	.	.	.	.	.	rs370463371	8/11	oxog	ENST00000350119	Transcript	.	.	ENSG00000149927	2985	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DOC2A_HUMAN	DOC2A	HGNC	H3BU41_HUMAN,H3BSH4_HUMAN,H3BNF7_HUMAN	.	UPI000013DBC8	SNV	DOC2A,synonymous_variant,p.%3D,ENST00000564979,;DOC2A,synonymous_variant,p.%3D,ENST00000350119,;DOC2A,synonymous_variant,p.%3D,ENST00000564944,;DOC2A,synonymous_variant,p.%3D,ENST00000564357,;DOC2A,downstream_gene_variant,,ENST00000563125,;INO80E,downstream_gene_variant,,ENST00000562291,;INO80E,downstream_gene_variant,,ENST00000563197,;INO80E,downstream_gene_variant,,ENST00000304516,;INO80E,downstream_gene_variant,,ENST00000567705,;DOC2A,downstream_gene_variant,,ENST00000565273,;DOC2A,downstream_gene_variant,,ENST00000563378,;DOC2A,downstream_gene_variant,,ENST00000567332,;DOC2A,downstream_gene_variant,,ENST00000574405,;DOC2A,downstream_gene_variant,,ENST00000570194,;DOC2A,synonymous_variant,p.%3D,ENST00000566310,;DOC2A,3_prime_UTR_variant,,ENST00000561671,;DOC2A,non_coding_transcript_exon_variant,,ENST00000564233,;DOC2A,downstream_gene_variant,,ENST00000566456,;INO80E,downstream_gene_variant,,ENST00000567987,;INO80E,downstream_gene_variant,,ENST00000569957,;INO80E,downstream_gene_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000567065,;INO80E,downstream_gene_variant,,ENST00000562441,;	987	40	54	SUCCESS
FBXL19	54620	.	GRCh37	16	30958514	30958514	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772722567	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	13	0	ENST00000380310.2:c.2048G>A	p.Arg683His	p.R683H	ENST00000380310	NM_001099784.2	683	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS45465.1	2048	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCTGCC	NONE	byFrequency	.	hmmpanther:PTHR23125:SF254,hmmpanther:PTHR23125	.	.	ENSP00000369666	.	11/11	.	.	.	.	.	.	.	.	rs772722567	11/11	PASS	ENST00000380310	Transcript	.	.	ENSG00000099364	25300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	tolerated(0.15)	.	FXL19_HUMAN	FBXL19	HGNC	H3BVB1_HUMAN,H3BQP6_HUMAN,H3BPZ0_HUMAN	.	UPI00015C725E	SNV	FBXL19,missense_variant,p.Arg547His,ENST00000565690,;FBXL19,missense_variant,p.Arg575His,ENST00000427128,;FBXL19,missense_variant,p.Arg371His,ENST00000471231,;FBXL19,missense_variant,p.Arg683His,ENST00000380310,;FBXL19,missense_variant,p.Arg663His,ENST00000562319,;FBXL19,missense_variant,p.Arg663His,ENST00000338343,;FBXL19,synonymous_variant,p.%3D,ENST00000565939,;FBXL19,intron_variant,,ENST00000566320,;ORAI3,upstream_gene_variant,,ENST00000318663,;ORAI3,upstream_gene_variant,,ENST00000566237,;ORAI3,upstream_gene_variant,,ENST00000562699,;AC135048.13,upstream_gene_variant,,ENST00000562642,;AC135048.13,upstream_gene_variant,,ENST00000566056,;ORAI3,upstream_gene_variant,,ENST00000563161,;	2206	13	21	SUCCESS
ITGAD	3681	.	GRCh37	16	31426269	31426269	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200483957	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	44	80	0	ENST00000389202.2:c.2240G>A	p.Arg747His	p.R747H	ENST00000389202	NM_005353.2	747	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS32438.1	2240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCCTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	.	A:0.0001	ENSP00000373854	.	18/30	.	.	.	.	.	.	.	.	rs200483957	18/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.06)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Arg747His,ENST00000389202,;	2289	80	96	SUCCESS
C16orf96	342346	.	GRCh37	16	4641701	4641701	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs776180665	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	49	223	0	ENST00000444310.4:c.2627A>T	p.Glu876Val	p.E876V	ENST00000444310	NM_001145011.1	876	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS53986.1	2627	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAAATGG	NONE	.	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF81	.	.	ENSP00000415027	.	10/16	.	.	.	.	.	.	.	.	rs776180665	10/16	PASS	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.607)	.	deleterious(0)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Glu876Val,ENST00000444310,;	2627	223	299	SUCCESS
RHBDL1	9028	.	GRCh37	16	726998	726998	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778300183	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	71	0	ENST00000219551.2:c.649C>T	p.Arg217Cys	p.R217C	ENST00000219551		217	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	649	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGCCTC	NONE	.	.	hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	.	.	ENSP00000219551	.	3/7	.	.	.	.	.	.	.	.	rs778300183	3/7	PASS	ENST00000219551	Transcript	.	.	ENSG00000103269	10007	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.543)	.	tolerated(0.06)	.	RHBL1_HUMAN	RHBDL1	HGNC	.	.	UPI0000048DB3	SNV	RHBDL1,missense_variant,p.Arg152Cys,ENST00000352681,;RHBDL1,missense_variant,p.Arg77Cys,ENST00000561556,;RHBDL1,missense_variant,p.Arg217Cys,ENST00000219551,;STUB1,upstream_gene_variant,,ENST00000565677,;RHOT2,downstream_gene_variant,,ENST00000569197,;JMJD8,downstream_gene_variant,,ENST00000609261,;STUB1,upstream_gene_variant,,ENST00000567173,;RHOT2,downstream_gene_variant,,ENST00000315082,;JMJD8,downstream_gene_variant,,ENST00000454700,;STUB1,upstream_gene_variant,,ENST00000219548,;STUB1,upstream_gene_variant,,ENST00000564316,;JMJD8,downstream_gene_variant,,ENST00000293882,;STUB1,upstream_gene_variant,,ENST00000564370,;STUB1,upstream_gene_variant,,ENST00000566408,;JMJD8,downstream_gene_variant,,ENST00000412368,;LA16c-313D11.9,downstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,downstream_gene_variant,,ENST00000567091,;STUB1,upstream_gene_variant,,ENST00000566181,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000569248,;JMJD8,downstream_gene_variant,,ENST00000568689,;RHOT2,downstream_gene_variant,,ENST00000569358,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000569675,;RHOT2,downstream_gene_variant,,ENST00000602564,;RHOT2,downstream_gene_variant,,ENST00000564659,;JMJD8,downstream_gene_variant,,ENST00000567120,;STUB1,upstream_gene_variant,,ENST00000563505,;RHOT2,downstream_gene_variant,,ENST00000568636,;RHOT2,downstream_gene_variant,,ENST00000562957,;STUB1,upstream_gene_variant,,ENST00000567790,;RHOT2,downstream_gene_variant,,ENST00000565004,;RHOT2,downstream_gene_variant,,ENST00000561711,;	676	71	57	SUCCESS
SLC6A4	6532	.	GRCh37	17	28530206	28530206	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764936225	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	12	123	0	ENST00000261707.3:c.1802C>T	p.Pro601Leu	p.P601L	ENST00000261707	NM_001045.5	601	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11256.1	1802	MUTECT|MUSE	.	TCCCTGGAGTG	NONE	.	.	hmmpanther:PTHR11616:SF105,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000385822	.	13/14	.	.	.	.	.	.	.	.	rs764936225	13/14	PASS	ENST00000401766	Transcript	.	.	ENSG00000108576	11050	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.917)	.	deleterious(0)	.	SC6A4_HUMAN	SLC6A4	HGNC	Q9NYN7_HUMAN,J3KPR9_HUMAN,B3VRW0_HUMAN,B3VRV5_HUMAN,B3VRV0_HUMAN,B3VRU5_HUMAN,B3VRU0_HUMAN,B3VRS5_HUMAN,B3VRS0_HUMAN,B3VRR5_HUMAN,B3VRR0_HUMAN,B3VRQ5_HUMAN,B3VRQ0_HUMAN	.	UPI0000135493	SNV	SLC6A4,missense_variant,p.Pro601Leu,ENST00000261707,;SLC6A4,missense_variant,p.Pro601Leu,ENST00000394821,;SLC6A4,missense_variant,p.Pro601Leu,ENST00000401766,;RP11-354P11.4,upstream_gene_variant,,ENST00000581633,;SLC6A4,3_prime_UTR_variant,,ENST00000579221,;SLC6A4,non_coding_transcript_exon_variant,,ENST00000578609,;	2315	123	170	SUCCESS
SLFN11	91607	.	GRCh37	17	33680372	33680372	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	497	26	706	1	ENST00000308377.4:c.1905T>C	p.Pro635=	p.P635=	ENST00000308377	NM_152270.3	635	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11294.1	1905	MUTECT|MUSE	.	CTCAGAGGCTG	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Pfam_domain:PF09848,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,synonymous_variant,p.%3D,ENST00000394566,;SLFN11,synonymous_variant,p.%3D,ENST00000308377,;SLFN11,upstream_gene_variant,,ENST00000592108,;	2178	707	523	SUCCESS
AP2B1	163	.	GRCh37	17	33925274	33925274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	68	129	0	ENST00000312678.8:c.63A>T	p.Glu21Asp	p.E21D	ENST00000312678	NM_001030006.1	21	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS32621.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAACTCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371	.	.	ENSP00000314414	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.26)	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,missense_variant,p.Glu21Asp,ENST00000589344,;AP2B1,missense_variant,p.Glu21Asp,ENST00000589774,;AP2B1,missense_variant,p.Glu21Asp,ENST00000262325,;AP2B1,missense_variant,p.Glu21Asp,ENST00000312678,;AP2B1,missense_variant,p.Glu21Asp,ENST00000593014,;AP2B1,missense_variant,p.Glu21Asp,ENST00000592545,;AP2B1,missense_variant,p.Glu21Asp,ENST00000590432,;AP2B1,missense_variant,p.Glu21Asp,ENST00000537622,;AP2B1,5_prime_UTR_variant,,ENST00000538556,;AP2B1,non_coding_transcript_exon_variant,,ENST00000588093,;AP2B1,missense_variant,p.Glu21Asp,ENST00000590538,;AP2B1,missense_variant,p.Glu21Asp,ENST00000591610,;AP2B1,missense_variant,p.Glu21Asp,ENST00000592167,;AP2B1,missense_variant,p.Glu21Asp,ENST00000592191,;CTC-507E2.2,upstream_gene_variant,,ENST00000587835,;	193	129	163	SUCCESS
TUBG1	7283	.	GRCh37	17	40766524	40766524	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	12	138	0	ENST00000251413.3:c.1007G>A	p.Ser336Asn	p.S336N	ENST00000251413	NM_001070.4	336	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS11433.1	1007	MUTECT|MUSE|VARSCANS	.	CAAGAGCTTGC	NONE	.	.	Superfamily_domains:SSF55307,SMART_domains:SM00865,Gene3D:3.30.1330.20,Pfam_domain:PF03953,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF62	.	.	ENSP00000251413	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000251413	Transcript	.	.	ENSG00000131462	12417	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBG1_HUMAN	TUBG1	HGNC	.	.	UPI0000136A56	SNV	TUBG1,missense_variant,p.Ser336Asn,ENST00000251413,;FAM134C,upstream_gene_variant,,ENST00000585894,;FAM134C,upstream_gene_variant,,ENST00000591547,;FAM134C,upstream_gene_variant,,ENST00000588423,;TUBG1,downstream_gene_variant,,ENST00000591509,;TUBG1,3_prime_UTR_variant,,ENST00000589688,;TUBG1,downstream_gene_variant,,ENST00000589613,;TUBG1,downstream_gene_variant,,ENST00000588056,;	1069	138	137	SUCCESS
SPOP	8405	.	GRCh37	17	47677798	47677798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	62	91	0	ENST00000347630.2:c.1067T>A	p.Leu356Gln	p.L356Q	ENST00000347630	NM_001007230.1	356	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11551.1	1067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCAGAGAG	NONE	.	.	hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97	.	.	ENSP00000377004	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000393331	Transcript	.	.	ENSG00000121067	11254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SPOP_HUMAN	SPOP	HGNC	D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN	.	UPI0000003F5C	SNV	SPOP,missense_variant,p.Leu356Gln,ENST00000503676,;SPOP,missense_variant,p.Leu356Gln,ENST00000393331,;SPOP,missense_variant,p.Leu356Gln,ENST00000393328,;SPOP,missense_variant,p.Leu356Gln,ENST00000504102,;SPOP,missense_variant,p.Leu356Gln,ENST00000347630,;SPOP,non_coding_transcript_exon_variant,,ENST00000507551,;SPOP,non_coding_transcript_exon_variant,,ENST00000577134,;SPOP,non_coding_transcript_exon_variant,,ENST00000572686,;	1538	91	127	SUCCESS
EPN3	55040	.	GRCh37	17	48617654	48617654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142210765	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	48	0	ENST00000268933.3:c.938C>T	p.Pro313Leu	p.P313L	ENST00000268933	NM_017957.2	313	cCg/cTg	0	T:0.0005	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS11570.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCGCCCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12276:SF16,hmmpanther:PTHR12276	T:0.001	T:0	ENSP00000268933	T:0	6/10	.	.	.	.	.	.	.	.	rs142210765	6/10	PASS	ENST00000268933	Transcript	.	T:0.0002	ENSG00000049283	18235	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	T:0	tolerated(0.16)	.	EPN3_HUMAN	EPN3	HGNC	D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN	.	UPI0000073234	SNV	EPN3,missense_variant,p.Pro341Leu,ENST00000537145,;EPN3,missense_variant,p.Pro313Leu,ENST00000268933,;EPN3,intron_variant,,ENST00000541226,;EPN3,downstream_gene_variant,,ENST00000507709,;EPN3,downstream_gene_variant,,ENST00000515126,;EPN3,downstream_gene_variant,,ENST00000507467,;EPN3,downstream_gene_variant,,ENST00000514874,;EPN3,downstream_gene_variant,,ENST00000503246,;EPN3,downstream_gene_variant,,ENST00000503690,;RP11-94C24.8,upstream_gene_variant,,ENST00000513017,;EPN3,downstream_gene_variant,,ENST00000571402,;EPN3,downstream_gene_variant,,ENST00000511414,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000507998,;EPN3,3_prime_UTR_variant,,ENST00000512379,;EPN3,3_prime_UTR_variant,,ENST00000574464,;EPN3,intron_variant,,ENST00000510045,;EPN3,intron_variant,,ENST00000512291,;RP11-94C24.8,upstream_gene_variant,,ENST00000509260,;SPATA20,upstream_gene_variant,,ENST00000504334,;	1517	48	58	SUCCESS
SLC16A6	9120	.	GRCh37	17	66270184	66270184	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782723811	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	45	0	ENST00000327268.4:c.260G>A	p.Arg87His	p.R87H	ENST00000327268	NM_001174166.1	87	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11675.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAACGATTG	NONE	byFrequency	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360:SF20,hmmpanther:PTHR11360,PROSITE_profiles:PS50850	.	.	ENSP00000319991	.	4/7	.	.	.	.	.	.	.	.	rs782723811	4/7	PASS	ENST00000327268	Transcript	.	.	ENSG00000108932	10927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.07)	.	MOT7_HUMAN	SLC16A6	HGNC	J3KS02_HUMAN,A1L174_HUMAN	.	UPI00001AA3B9	SNV	SLC16A6,missense_variant,p.Arg87His,ENST00000580666,;SLC16A6,missense_variant,p.Arg87His,ENST00000327268,;SLC16A6,intron_variant,,ENST00000583477,;ARSG,intron_variant,,ENST00000448504,;SLC16A6,downstream_gene_variant,,ENST00000582867,;ARSG,non_coding_transcript_exon_variant,,ENST00000578726,;	425	45	50	SUCCESS
FBF1	85302	.	GRCh37	17	73915917	73915917	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764601669	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	95	0	ENST00000586717.1:c.1928G>T	p.Arg643Leu	p.R643L	ENST00000586717		643	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS45779.1	1925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGTTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000324292	.	19/29	.	.	.	.	.	.	.	.	rs764601669	19/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,missense_variant,p.Arg642Leu,ENST00000319129,;FBF1,missense_variant,p.Arg657Leu,ENST00000592193,;FBF1,missense_variant,p.Arg643Leu,ENST00000389570,;FBF1,missense_variant,p.Arg643Leu,ENST00000586717,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;FBF1,downstream_gene_variant,,ENST00000586838,;FBF1,upstream_gene_variant,,ENST00000593076,;	2199	95	124	SUCCESS
TMC6	11322	.	GRCh37	17	76120679	76120679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	33	0	ENST00000322914.3:c.817C>A	p.Pro273Thr	p.P273T	ENST00000322914	NM_007267.6	273	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32748.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGCCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	.	.	ENSP00000465261	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.3)	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,missense_variant,p.Pro273Thr,ENST00000322914,;TMC6,missense_variant,p.Pro273Thr,ENST00000306591,;TMC6,missense_variant,p.Pro273Thr,ENST00000392467,;TMC6,missense_variant,p.Pro273Thr,ENST00000590602,;TMC6,missense_variant,p.Pro46Thr,ENST00000589553,;TMC6,missense_variant,p.Pro273Thr,ENST00000589271,;TMC6,5_prime_UTR_variant,,ENST00000322933,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,downstream_gene_variant,,ENST00000592594,;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,upstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000586126,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,upstream_gene_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000588792,;	977	33	44	SUCCESS
FASN	2194	.	GRCh37	17	80047248	80047248	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	68	0	ENST00000306749.2:c.1978G>T	p.Glu660Ter	p.E660*	ENST00000306749	NM_004104.4	660	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11801.1	1978	RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCAAACA	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00698,Gene3D:3.30.70.250,SMART_domains:SM00827,Superfamily_domains:SSF55048	.	.	ENSP00000304592	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,stop_gained,p.Glu660Ter,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579410,;	2197	68	107	SUCCESS
ZSCAN30	100101467	.	GRCh37	18	32843982	32843982	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368624179	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	265	14	216	0	ENST00000333206.5:c.335G>A	p.Arg112Gln	p.R112Q	ENST00000333206	NM_001112734.2	112	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS42427.1	335	MUTECT|MUSE	.	CTGGCCGATGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF47,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	T:0.0001	ENSP00000392371	.	3/5	.	.	.	.	.	.	.	.	rs368624179	3/5	PASS	ENST00000420878	Transcript	.	.	ENSG00000186814	33517	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.72)	.	ZSC30_HUMAN	ZSCAN30	HGNC	K7ERA9_HUMAN,K7EPB0_HUMAN	.	UPI00001867D6	SNV	ZSCAN30,missense_variant,p.Arg10Gln,ENST00000588448,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000592278,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000420878,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000383091,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000589178,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000333206,;ZSCAN30,intron_variant,,ENST00000601405,;ZNF397,downstream_gene_variant,,ENST00000355632,;ZSCAN30,downstream_gene_variant,,ENST00000592598,;ZSCAN30,downstream_gene_variant,,ENST00000592211,;ZNF397,intron_variant,,ENST00000589420,;	791	216	279	SUCCESS
MYO5B	4645	.	GRCh37	18	47500944	47500944	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	46	98	0	ENST00000285039.7:c.1098G>A	p.Gly366=	p.G366=	ENST00000285039	NM_001080467.2	366	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42436.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCCCTAG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000285039	.	10/40	.	.	.	.	.	.	.	.	.	10/40	PASS	ENST00000285039	Transcript	.	.	ENSG00000167306	7603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO5B_HUMAN	MYO5B	HGNC	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN	.	UPI00001D7B21	SNV	MYO5B,synonymous_variant,p.%3D,ENST00000285039,;RP11-813F20.4,upstream_gene_variant,,ENST00000591362,;	1398	98	120	SUCCESS
ZNF69	7620	.	GRCh37	19	12014498	12014498	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763643376	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	269	363	355	0	ENST00000429654.2:c.174G>C	p.Arg58Ser	p.R58S	ENST00000429654		58	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS32914.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGAACCT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000345333	.	2/5	.	.	.	.	.	.	.	.	rs763643376	2/5	PASS	ENST00000340180	Transcript	.	.	ENSG00000198429	13138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.267)	.	deleterious(0.01)	.	ZNF69_HUMAN	ZNF69	HGNC	.	.	UPI00001969B3	SNV	ZNF69,missense_variant,p.Arg44Ser,ENST00000340180,;ZNF69,missense_variant,p.Arg58Ser,ENST00000429654,;ZNF69,missense_variant,p.Arg44Ser,ENST00000445911,;	201	355	633	SUCCESS
CRLF1	9244	.	GRCh37	19	18709391	18709391	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	34	81	0	ENST00000392386.3:c.548C>T	p.Thr183Ile	p.T183I	ENST00000392386	NM_004750.4	183	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS32962.1	548	RADIA|MUTECT|MUSE|VARSCANS	.	CACATGTGTTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,Pfam_domain:PF09067,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376188	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000392386	Transcript	1	.	ENSG00000006016	2364	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.926)	.	tolerated(0.17)	.	CRLF1_HUMAN	CRLF1	HGNC	.	.	UPI000000DA9E	SNV	CRLF1,missense_variant,p.Thr5Ile,ENST00000597131,;CRLF1,missense_variant,p.Thr183Ile,ENST00000392386,;CRLF1,upstream_gene_variant,,ENST00000594325,;CRLF1,downstream_gene_variant,,ENST00000593286,;CRLF1,upstream_gene_variant,,ENST00000596360,;	742	81	147	SUCCESS
ZNF253	56242	.	GRCh37	19	20003414	20003414	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	25	133	0	ENST00000589717.1:c.1358A>G	p.Lys453Arg	p.K453R	ENST00000589717	NM_021047.2	453	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS42532.1	1358	MUTECT|MUSE|VARSCANS	.	TTACAAATGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000468720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.054)	.	deleterious(0.04)	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,missense_variant,p.Lys377Arg,ENST00000355650,;ZNF253,missense_variant,p.Lys453Arg,ENST00000589717,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,intron_variant,,ENST00000585571,;	1450	133	286	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36278140	36278140	+	synonymous_variant	Silent	SNP	G	G	A	rs200811520	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	42	0	ENST00000314737.5:c.2190G>A	p.Pro730=	p.P730=	ENST00000314737	NM_052948.3	730	ccG/ccA	0	A:0	A:0	.	A:0.0014	.	A	P	protein_coding	YES	CCDS12477.1	2190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCCCCC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	A:0.001	A:0.0001	ENSP00000320038	A:0.001	21/21	.	.	.	.	.	.	.	.	rs200811520,rs770422275,COSM3796979,COSM3796980	21/21	PASS	ENST00000314737	Transcript	.	A:0.0006	ENSG00000004777	23085	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,0,1,1	.	.	.	A:0	.	0,0,1,1	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,synonymous_variant,p.%3D,ENST00000007510,;ARHGAP33,synonymous_variant,p.%3D,ENST00000378944,;ARHGAP33,synonymous_variant,p.%3D,ENST00000587447,;ARHGAP33,synonymous_variant,p.%3D,ENST00000314737,;ARHGAP33,synonymous_variant,p.%3D,ENST00000588248,;AC002398.5,downstream_gene_variant,,ENST00000564335,;AC002398.5,downstream_gene_variant,,ENST00000433059,;AC002398.5,downstream_gene_variant,,ENST00000567313,;ARHGAP33,downstream_gene_variant,,ENST00000591438,;ARHGAP33,downstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000601474,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;	2274	42	61	SUCCESS
AC016582.2	0	.	GRCh37	19	38314619	38314619	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	11	0	ENST00000592640.1:n.1459G>A		p.*487*	ENST00000592640				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACTTGGG	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000592640	Transcript	.	.	ENSG00000225868	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC016582.2	Clone_based_vega_gene	.	.	.	SNV	AC016582.2,non_coding_transcript_exon_variant,,ENST00000592640,;CTD-2554C21.2,intron_variant,,ENST00000592103,;CTD-2554C21.2,intron_variant,,ENST00000590433,;CTD-2554C21.2,intron_variant,,ENST00000586819,;CTD-2554C21.2,intron_variant,,ENST00000587248,;CTD-2554C21.2,downstream_gene_variant,,ENST00000589653,;	1459	11	26	SUCCESS
HNRNPL	3191	.	GRCh37	19	39329152	39329152	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	106	189	1	ENST00000221419.5:c.1442G>A	p.Arg481Gln	p.R481Q	ENST00000221419	NM_001533.2	481	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33015.1	1442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCGGGAT	NONE	.	.	hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF19,TIGRFAM_domain:TIGR01649,Gene3D:3.30.70.330	.	.	ENSP00000221419	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000221419	Transcript	.	.	ENSG00000104824	5045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	HNRPL_HUMAN	HNRNPL	HGNC	Q6NTA2_HUMAN	.	UPI00004432FA	SNV	HNRNPL,missense_variant,p.Arg348Gln,ENST00000600873,;HNRNPL,missense_variant,p.Arg422Gln,ENST00000601449,;HNRNPL,missense_variant,p.Arg481Gln,ENST00000221419,;AC104534.3,missense_variant,p.Arg98Gln,ENST00000594769,;AC104534.3,intron_variant,,ENST00000602021,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595443,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,downstream_gene_variant,,ENST00000601664,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,upstream_gene_variant,,ENST00000595804,;	1809	190	287	SUCCESS
NFKBIB	4793	.	GRCh37	19	39395721	39395721	+	synonymous_variant	Silent	SNP	C	C	A	rs142337920	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	116	193	0	ENST00000313582.5:c.246C>A	p.Ala82=	p.A82=	ENST00000313582	NM_002503.4	82	gcC/gcA	0	T:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS12524.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCCGGCAC	NONE	byCluster	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF30,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	T:0	ENSP00000312988	.	2/6	.	.	.	.	.	.	.	.	rs142337920	2/6	PASS	ENST00000313582	Transcript	.	.	ENSG00000104825	7798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKBB_HUMAN	NFKBIB	HGNC	I3L4X3_HUMAN	.	UPI000006FFE4	SNV	NFKBIB,synonymous_variant,p.%3D,ENST00000313582,;NFKBIB,synonymous_variant,p.%3D,ENST00000572515,;NFKBIB,synonymous_variant,p.%3D,ENST00000575359,;NFKBIB,synonymous_variant,p.%3D,ENST00000392079,;NFKBIB,5_prime_UTR_variant,,ENST00000576510,;CCER2,downstream_gene_variant,,ENST00000571838,;CCER2,downstream_gene_variant,,ENST00000571845,;NFKBIB,synonymous_variant,p.%3D,ENST00000509705,;	280	193	289	SUCCESS
SH3GL1	6455	.	GRCh37	19	4361758	4361758	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs767494738	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	36	46	0	ENST00000269886.3:c.946G>C	p.Asp316His	p.D316H	ENST00000269886	NM_003025.3	316	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS32874.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCGTACA	NONE	.	.	Prints_domain:PR00499,Prints_domain:PR00452,Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF00018,hmmpanther:PTHR10661:SF125,hmmpanther:PTHR10661,PROSITE_profiles:PS50002	.	.	ENSP00000269886	.	10/10	.	.	.	.	.	.	.	.	rs767494738	10/10	PASS	ENST00000269886	Transcript	.	.	ENSG00000141985	10830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SH3G1_HUMAN	SH3GL1	HGNC	Q9BWP4_HUMAN,Q9BVL7_HUMAN,Q6FGM0_HUMAN,M0R2K6_HUMAN,M0R0I3_HUMAN,M0QYE0_HUMAN	.	UPI0000135931	SNV	SH3GL1,missense_variant,p.Asp268His,ENST00000417295,;SH3GL1,missense_variant,p.Asp252His,ENST00000598564,;SH3GL1,missense_variant,p.Asp316His,ENST00000269886,;MPND,downstream_gene_variant,,ENST00000597036,;MPND,downstream_gene_variant,,ENST00000262966,;MPND,downstream_gene_variant,,ENST00000359935,;MPND,downstream_gene_variant,,ENST00000594162,;MPND,downstream_gene_variant,,ENST00000599840,;SH3GL1,downstream_gene_variant,,ENST00000598230,;MPND,downstream_gene_variant,,ENST00000596722,;SH3GL1,downstream_gene_variant,,ENST00000598219,;SH3GL1,downstream_gene_variant,,ENST00000593591,;AC007292.6,upstream_gene_variant,,ENST00000594444,;AC007292.3,upstream_gene_variant,,ENST00000593524,;MPND,downstream_gene_variant,,ENST00000594716,;	1125	46	44	SUCCESS
ZNF578	147660	.	GRCh37	19	53008031	53008031	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	43	84	0	ENST00000421239.2:c.187G>A	p.Val63Met	p.V63M	ENST00000421239	NM_001099694.1	63	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54310.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGTGGGT	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50805	.	.	ENSP00000459216	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0)	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Val63Met,ENST00000421239,;ZNF578,missense_variant,p.Val63Met,ENST00000601120,;	431	84	92	SUCCESS
MUC16	94025	.	GRCh37	19	9047545	9047545	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	256	19	418	1	ENST00000397910.4:c.34086C>A	p.Pro11362=	p.P11362=	ENST00000397910	NM_024690.2	11362	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54212.1	34086	MUTECT|MUSE	.	GTCCTGGGAAC	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	34290	419	276	SUCCESS
MUC16	94025	.	GRCh37	19	9074278	9074278	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs769603117	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	314	32	460	0	ENST00000397910.4:c.13168C>T	p.Gln4390Ter	p.Q4390*	ENST00000397910	NM_024690.2	4390	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS54212.1	13168	MUTECT|MUSE|VARSCANS	.	TGTTTGGGTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs769603117	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Gln4390Ter,ENST00000397910,;	13372	460	346	SUCCESS
OR7E24	26648	.	GRCh37	19	9362317	9362317	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	231	16	283	0	ENST00000456448.1:c.598T>C	p.Ser200Pro	p.S200P	ENST00000456448	NM_001079935.1	200	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS45955.1	598	MUTECT|MUSE	.	ACCCTTCTCAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000387523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000456448	Transcript	.	.	ENSG00000237521	8396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	tolerated(0.24)	.	O7E24_HUMAN	OR7E24	HGNC	O43789_HUMAN	.	UPI00003B2886	SNV	OR7E24,missense_variant,p.Ser200Pro,ENST00000456448,;	712	283	247	SUCCESS
VAV3	10451	.	GRCh37	1	108315394	108315394	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	13	155	0	ENST00000370056.4:c.518A>C	p.Tyr173Ser	p.Y173S	ENST00000370056	NM_006113.4	173	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS785.1	518	MUTECT|MUSE|VARSCANS	.	CCTCATAGACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Superfamily_domains:SSF47576	.	.	ENSP00000359073	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Tyr168Ser,ENST00000490388,;VAV3,missense_variant,p.Tyr108Ser,ENST00000371846,;VAV3,missense_variant,p.Tyr173Ser,ENST00000370056,;VAV3,missense_variant,p.Tyr173Ser,ENST00000527011,;AL591042.1,downstream_gene_variant,,ENST00000579317,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000524574,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000530671,;	793	155	149	SUCCESS
PTCHD2	0	.	GRCh37	1	11562021	11562021	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	76	0	ENST00000294484.6:c.972T>G	p.Asp324Glu	p.D324E	ENST00000294484	NM_020780.1	324	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS41247.1	972	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGATCTGCC	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Asp324Glu,ENST00000389575,;PTCHD2,missense_variant,p.Asp324Glu,ENST00000294484,;	1110	76	71	SUCCESS
GDAP2	54834	.	GRCh37	1	118454654	118454654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763963913	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	245	375	0	ENST00000369443.5:c.521G>A	p.Arg174His	p.R174H	ENST00000369443	NM_017686.3	174	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS897.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCACGTTTT	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF59,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000358451	.	5/14	.	.	.	.	.	.	.	.	rs763963913,COSM1208045	5/14	PASS	ENST00000369443	Transcript	.	.	ENSG00000196505	18010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.768)	.	deleterious(0)	0,1	GDAP2_HUMAN	GDAP2	HGNC	.	.	UPI0000071019	SNV	GDAP2,missense_variant,p.Arg174His,ENST00000369442,;GDAP2,missense_variant,p.Arg174His,ENST00000369443,;GDAP2,non_coding_transcript_exon_variant,,ENST00000493555,;GDAP2,downstream_gene_variant,,ENST00000494224,;	771	375	319	SUCCESS
TMEM79	84283	.	GRCh37	1	156255314	156255314	+	synonymous_variant	Silent	SNP	A	A	T	rs553983602	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	44	59	0	ENST00000295694.5:c.297A>T	p.Pro99=	p.P99=	ENST00000295694		99	ccA/ccT	0	.	G:0.0008	.	G:0	.	T	P	protein_coding	YES	CCDS1138.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCAGAGCC	NONE	by1000G	.	hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	G:0	.	ENSP00000384748	G:0	2/4	.	.	.	.	.	.	.	.	rs553983602	2/4	PASS	ENST00000405535	Transcript	.	G:0.0002	ENSG00000163472	28196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,synonymous_variant,p.%3D,ENST00000405535,;TMEM79,synonymous_variant,p.%3D,ENST00000295694,;TMEM79,intron_variant,,ENST00000456810,;TMEM79,intron_variant,,ENST00000357501,;SMG5,upstream_gene_variant,,ENST00000368267,;SMG5,upstream_gene_variant,,ENST00000361813,;TMEM79,splice_acceptor_variant,,ENST00000463670,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;C1orf85,downstream_gene_variant,,ENST00000497831,;TMEM79,upstream_gene_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000461597,;	468	59	161	SUCCESS
FCRL3	115352	.	GRCh37	1	157670351	157670351	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	53	80	0	ENST00000368184.3:c.-72G>A		p.*24*	ENST00000368184	NM_052939.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1167.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCAGGAA	NONE	.	.	.	.	.	ENSP00000357167	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,5_prime_UTR_variant,,ENST00000368186,;FCRL3,5_prime_UTR_variant,,ENST00000496769,;FCRL3,5_prime_UTR_variant,,ENST00000368184,;RP11-367J7.3,downstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,upstream_gene_variant,,ENST00000473231,;FCRL3,upstream_gene_variant,,ENST00000478179,;FCRL3,5_prime_UTR_variant,,ENST00000485028,;FCRL3,5_prime_UTR_variant,,ENST00000477837,;FCRL3,5_prime_UTR_variant,,ENST00000492769,;	221	80	177	SUCCESS
KIRREL	0	.	GRCh37	1	158059385	158059385	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1324098236	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	40	73	0	ENST00000359209.6:c.1138G>A	p.Val380Met	p.V380M	ENST00000359209		380	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1172.2	1138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGAGTGGCT	NONE	.	.	hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Val216Met,ENST00000360089,;KIRREL,missense_variant,p.Val396Met,ENST00000368173,;KIRREL,missense_variant,p.Val194Met,ENST00000368172,;KIRREL,missense_variant,p.Val280Met,ENST00000416935,;KIRREL,missense_variant,p.Val380Met,ENST00000359209,;KIRREL,missense_variant,p.Val277Met,ENST00000392272,;	1205	73	152	SUCCESS
OR10T2	128360	.	GRCh37	1	158369189	158369189	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	14	85	0	ENST00000334438.1:c.68A>G	p.Glu23Gly	p.E23G	ENST00000334438	NM_001004475.1	23	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS30895.1	68	MUTECT|MUSE|VARSCANS	.	GGAGCTCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR26451:SF98,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334115	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334438	Transcript	.	.	ENSG00000186306	14816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.05)	.	tolerated(0.11)	.	O10T2_HUMAN	OR10T2	HGNC	.	.	UPI000003F220	SNV	OR10T2,missense_variant,p.Glu23Gly,ENST00000334438,;	68	85	157	SUCCESS
DNM3	26052	.	GRCh37	1	172100413	172100413	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	77	114	0	ENST00000355305.5:c.1674G>C	p.Trp558Cys	p.W558C	ENST00000355305		558	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS53431.1	1644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGTATAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR11566:SF54,hmmpanther:PTHR11566,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000350876	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Trp548Cys,ENST00000367731,;DNM3,missense_variant,p.Trp558Cys,ENST00000355305,;DNM3,missense_variant,p.Trp548Cys,ENST00000358155,;DNM3,missense_variant,p.Trp548Cys,ENST00000367733,;DNM3,missense_variant,p.Trp438Cys,ENST00000523513,;DNM3,missense_variant,p.Trp548Cys,ENST00000520906,;	1820	114	217	SUCCESS
LAMC1	3915	.	GRCh37	1	183085929	183085929	+	synonymous_variant	Silent	SNP	A	A	G	rs781326806	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	399	136	278	0	ENST00000258341.4:c.1455A>G	p.Glu485=	p.E485=	ENST00000258341	NM_002293.3	485	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1351.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAATCATC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000258341	.	8/28	.	.	.	.	.	.	.	.	rs781326806	8/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,synonymous_variant,p.%3D,ENST00000258341,;LAMC1,non_coding_transcript_exon_variant,,ENST00000479499,;	1712	278	536	SUCCESS
PTGS2	5743	.	GRCh37	1	186648333	186648333	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs764607381	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	487	34	257	0	ENST00000367468.5:c.170C>T	p.Pro57Leu	p.P57L	ENST00000367468	NM_000963.2	57	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1371.1	170	MUTECT|MUSE	.	ATTCCGCTGCA	NONE	.	.	hmmpanther:PTHR11903:SF8,hmmpanther:PTHR11903	.	.	ENSP00000356438	.	3/10	.	.	.	.	.	.	.	.	rs764607381	3/10	PASS	ENST00000367468	Transcript	.	.	ENSG00000073756	9605	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	PGH2_HUMAN	PTGS2	HGNC	D9MWI3_HUMAN	.	UPI000000D926	SNV	PTGS2,missense_variant,p.Pro57Leu,ENST00000367468,;RP5-973M2.2,upstream_gene_variant,,ENST00000608917,;PTGS2,splice_region_variant,,ENST00000490885,;PTGS2,splice_region_variant,,ENST00000559800,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,missense_variant,p.Pro57Leu,ENST00000559627,;	307	257	521	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186948491	186948491	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	371	193	367	0	ENST00000367466.3:c.2005G>T	p.Asp669Tyr	p.D669Y	ENST00000367466	NM_024420.2	669	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1372.1	2005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGATATT	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Asp609Tyr,ENST00000442353,;PLA2G4A,missense_variant,p.Asp669Tyr,ENST00000367466,;	2157	367	564	SUCCESS
ARL8A	127829	.	GRCh37	1	202104642	202104642	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	36	96	0	ENST00000272217.2:c.385G>C	p.Gly129Arg	p.G129R	ENST00000272217	NM_001256129.1	129	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS1421.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCCAGGA	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF122,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00178,SMART_domains:SM00175,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000272217	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000272217	Transcript	.	.	ENSG00000143862	25192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARL8A_HUMAN	ARL8A	HGNC	.	.	UPI00000372D3	SNV	ARL8A,missense_variant,p.Gly129Arg,ENST00000272217,;GPR37L1,downstream_gene_variant,,ENST00000367282,;ARL8A,non_coding_transcript_exon_variant,,ENST00000491358,;ARL8A,non_coding_transcript_exon_variant,,ENST00000486225,;	554	96	142	SUCCESS
RYR2	6262	.	GRCh37	1	237905615	237905615	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	57	179	0	ENST00000366574.2:c.11111A>T	p.Asp3704Val	p.D3704V	ENST00000366574	NM_001035.2	3704	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS55691.1	11111	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGATGACG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	80/105	.	.	.	.	.	.	.	.	.	80/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Asp3688Val,ENST00000542537,;RYR2,missense_variant,p.Asp3704Val,ENST00000366574,;RYR2,missense_variant,p.Asp3702Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	11428	179	289	SUCCESS
AHCTF1	25909	.	GRCh37	1	247024552	247024553	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	793	228	369	0	ENST00000326225.3:c.3807dup	p.Cys1270MetfsTer8	p.C1270Mfs*8	ENST00000326225	NM_015446.4	1269	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS1629.2	3807-3808	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCACATTTTT	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	insertion	AHCTF1,frameshift_variant,p.Cys1261MetfsTer8,ENST00000391829,;AHCTF1,frameshift_variant,p.Cys1296MetfsTer8,ENST00000366508,;AHCTF1,frameshift_variant,p.Cys1270MetfsTer8,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;	3904-3905	369	1021	SUCCESS
PGBD2	267002	.	GRCh37	1	249211815	249211815	+	synonymous_variant	Silent	SNP	G	G	A	rs769954494	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	272	81	157	0	ENST00000329291.5:c.1032G>A	p.Leu344=	p.L344=	ENST00000329291	NM_170725.2	344	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31128.1	1032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGCCATA	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000331643	.	3/3	.	.	.	.	.	.	.	.	rs769954494	3/3	PASS	ENST00000329291	Transcript	.	.	ENSG00000185220	19399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBD2_HUMAN	PGBD2	HGNC	.	.	UPI000016196D	SNV	PGBD2,synonymous_variant,p.%3D,ENST00000539153,;PGBD2,synonymous_variant,p.%3D,ENST00000329291,;PGBD2,synonymous_variant,p.%3D,ENST00000355360,;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,downstream_gene_variant,,ENST00000462488,;	1179	157	354	SUCCESS
MACF1	23499	.	GRCh37	1	39798959	39798959	+	synonymous_variant	Silent	SNP	A	A	T	rs771626175	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	153	198	0	ENST00000372915.3:c.6714A>T	p.Thr2238=	p.T2238=	ENST00000372915		2238	acA/acT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATTTCT	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	rs771626175	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	.	198	188	SUCCESS
TMEM53	79639	.	GRCh37	1	45120780	45120780	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	50	98	0	ENST00000372237.3:c.285G>T	p.Glu95Asp	p.E95D	ENST00000372237	NM_024587.2	95	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS511.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCTCGAG	NONE	.	.	hmmpanther:PTHR12265:SF0,hmmpanther:PTHR12265,Gene3D:3.40.50.1820,Pfam_domain:PF05705,Superfamily_domains:SSF53474	.	.	ENSP00000361311	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372237	Transcript	.	.	ENSG00000126106	26186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.09)	.	TMM53_HUMAN	TMEM53	HGNC	B4DI10_HUMAN	.	UPI000013E157	SNV	TMEM53,missense_variant,p.Glu65Asp,ENST00000372235,;TMEM53,missense_variant,p.Glu95Asp,ENST00000372237,;TMEM53,missense_variant,p.Glu95Asp,ENST00000372242,;TMEM53,missense_variant,p.Glu64Asp,ENST00000420706,;TMEM53,intron_variant,,ENST00000372244,;TMEM53,intron_variant,,ENST00000372243,;RNF220,downstream_gene_variant,,ENST00000361799,;RNF220,downstream_gene_variant,,ENST00000443020,;RNF220,downstream_gene_variant,,ENST00000355387,;RNF220,downstream_gene_variant,,ENST00000372247,;TMEM53,non_coding_transcript_exon_variant,,ENST00000476724,;TMEM53,non_coding_transcript_exon_variant,,ENST00000468117,;TMEM53,intron_variant,,ENST00000495630,;RNF220,downstream_gene_variant,,ENST00000474394,;RNF220,downstream_gene_variant,,ENST00000474956,;RNF220,downstream_gene_variant,,ENST00000484745,;RNF220,downstream_gene_variant,,ENST00000480686,;RNF220,downstream_gene_variant,,ENST00000475378,;RNF220,downstream_gene_variant,,ENST00000474064,;	449	98	61	SUCCESS
INADL	0	.	GRCh37	1	62237159	62237159	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	593	71	729	1	ENST00000371158.2:c.581A>T	p.Asp194Val	p.D194V	ENST00000371158	NM_176877.2	194	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS617.2	581	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGATCAGA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000360200	.	6/43	.	.	.	.	.	.	.	.	.	6/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Asp194Val,ENST00000316485,;INADL,missense_variant,p.Asp194Val,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	695	730	664	SUCCESS
SLC2A5	6518	.	GRCh37	1	9097670	9097670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	11	120	0	ENST00000377424.4:c.1481T>C	p.Leu494Pro	p.L494P	ENST00000377424	NM_003039.2	494	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS99.1	1481	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAAGCTCT	BUFFER|p.P496T|c.1486C>A|13	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24063:SF309,hmmpanther:PTHR24063	.	.	ENSP00000366641	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000377424	Transcript	.	.	ENSG00000142583	11010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.087)	.	tolerated(0.18)	.	GTR5_HUMAN	SLC2A5	HGNC	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN	.	UPI00000532AC	SNV	SLC2A5,missense_variant,p.Leu494Pro,ENST00000377424,;SLC2A5,missense_variant,p.Leu435Pro,ENST00000536305,;SLC2A5,missense_variant,p.Leu379Pro,ENST00000535586,;SLC2A5,downstream_gene_variant,,ENST00000487835,;SLC2A5,downstream_gene_variant,,ENST00000484798,;SLC2A5,downstream_gene_variant,,ENST00000377414,;SLC2A5,downstream_gene_variant,,ENST00000479813,;SLC2A5,downstream_gene_variant,,ENST00000474145,;SLC2A5,downstream_gene_variant,,ENST00000486632,;SLC2A5,downstream_gene_variant,,ENST00000487492,;	1661	120	114	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3673312	3673312	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760676443	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	29	0	ENST00000344754.4:c.3886C>T	p.His1296Tyr	p.H1296Y	ENST00000344754	NM_023068.3	1296	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS13060.1	3886	MUTECT|VARSCANS	.	GTTGTGGTACC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	15/21	.	.	.	.	.	.	.	.	rs760676443,COSM3911247,COSM3911248	15/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.139)	.	tolerated(0.06)	0,1,1	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.His1296Tyr,ENST00000344754,;SIGLEC1,missense_variant,p.His110Tyr,ENST00000419548,;SIGLEC1,missense_variant,p.His1296Tyr,ENST00000202578,;	3886	29	53	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3673732	3673732	+	synonymous_variant	Silent	SNP	G	G	A	rs144602570	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	28	0	ENST00000344754.4:c.3555C>T	p.Gly1185=	p.G1185=	ENST00000344754	NM_023068.3	1185	ggC/ggT	0	A:0.0005	A:0.0023	.	A:0	.	A	G	protein_coding	YES	CCDS13060.1	3555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGCCATG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,SMART_domains:SM00409,SMART_domains:SM00408	A:0	A:0	ENSP00000341141	A:0	14/21	.	.	.	.	.	.	.	.	rs144602570	14/21	PASS	ENST00000344754	Transcript	.	A:0.0006	ENSG00000088827	11127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,synonymous_variant,p.%3D,ENST00000344754,;SIGLEC1,synonymous_variant,p.%3D,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	3555	28	53	SUCCESS
CHD6	84181	.	GRCh37	20	40049753	40049753	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs140430642	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	49	107	0	ENST00000373233.3:c.5522A>T	p.Asp1841Val	p.D1841V	ENST00000373233	NM_032221.4	1841	gAt/gTt	0	C:0	C:0	.	C:0	.	A	D/V	protein_coding	YES	CCDS13317.1	5522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATCTGAT	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0.0003	ENSP00000362330	C:0.001	31/37	.	.	.	.	.	.	.	.	rs140430642	31/37	PASS	ENST00000373233	Transcript	.	C:0.0004	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.302)	C:0.001	deleterious_low_confidence(0)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Asp1841Val,ENST00000373233,;	5700	107	83	SUCCESS
SYCP2	10388	.	GRCh37	20	58467323	58467323	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	334	303	456	1	ENST00000357552.3:c.2086C>T	p.Gln696Ter	p.Q696*	ENST00000357552		696	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS13482.1	2086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGCTGAT	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	24/45	.	.	.	.	.	.	.	.	.	24/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,stop_gained,p.Gln696Ter,ENST00000446834,;SYCP2,stop_gained,p.Gln696Ter,ENST00000357552,;SYCP2,stop_gained,p.Gln696Ter,ENST00000371001,;	2312	457	637	SUCCESS
UCKL1	54963	.	GRCh37	20	62577849	62577849	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	75	0	ENST00000354216.6:c.261G>A	p.Trp87Ter	p.W87*	ENST00000354216	NM_017859.3	87	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS13547.1	261	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACCAGGG	NONE	.	.	hmmpanther:PTHR10285:SF64,hmmpanther:PTHR10285,Superfamily_domains:SSF52540	.	.	ENSP00000346155	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000354216	Transcript	.	.	ENSG00000198276	15938	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UCKL1_HUMAN	UCKL1	HGNC	Q5JWV1_HUMAN	.	UPI000004A08C	SNV	UCKL1,stop_gained,p.Trp87Ter,ENST00000358711,;UCKL1,stop_gained,p.Trp72Ter,ENST00000369908,;UCKL1,stop_gained,p.Trp87Ter,ENST00000354216,;UCKL1,stop_gained,p.Trp87Ter,ENST00000369892,;UCKL1,upstream_gene_variant,,ENST00000430743,;MIR1914,upstream_gene_variant,,ENST00000607800,;MIR647,upstream_gene_variant,,ENST00000384823,;UCKL1,non_coding_transcript_exon_variant,,ENST00000492660,;UCKL1,non_coding_transcript_exon_variant,,ENST00000483710,;	304	75	107	SUCCESS
PAK7	0	.	GRCh37	20	9525047	9525047	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	37	109	0	ENST00000353224.5:c.1838A>T	p.Glu613Val	p.E613V	ENST00000353224	NM_177990.2	613	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13107.1	1838	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTCAGGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000367686	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Glu613Val,ENST00000378423,;PAK7,missense_variant,p.Glu613Val,ENST00000378429,;PAK7,missense_variant,p.Glu613Val,ENST00000353224,;	2385	109	56	SUCCESS
NCAM2	4685	.	GRCh37	21	22664428	22664428	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	408	32	318	0	ENST00000400546.1:c.486G>A	p.Arg162=	p.R162=	ENST00000400546	NM_004540.3	162	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42910.1	486	MUTECT|MUSE	.	GATCGGTTCGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383392	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,synonymous_variant,p.%3D,ENST00000400546,;NCAM2,synonymous_variant,p.%3D,ENST00000284894,;NCAM2,synonymous_variant,p.%3D,ENST00000535285,;NCAM2,non_coding_transcript_exon_variant,,ENST00000461281,;NCAM2,non_coding_transcript_exon_variant,,ENST00000486367,;	735	318	440	SUCCESS
LTN1	26046	.	GRCh37	21	30354673	30354673	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	77	90	0	ENST00000361371.5:c.594T>C	p.Leu198=	p.L198=	ENST00000361371		198	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33527.2	732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAAGATG	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12389	.	.	ENSP00000373846	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000389194	Transcript	.	.	ENSG00000198862	13082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTN1_HUMAN	LTN1	HGNC	G1UI34_HUMAN	.	UPI000049DF6C	SNV	LTN1,synonymous_variant,p.%3D,ENST00000361371,;LTN1,synonymous_variant,p.%3D,ENST00000389195,;LTN1,synonymous_variant,p.%3D,ENST00000389194,;LTN1,synonymous_variant,p.%3D,ENST00000483326,;	738	90	161	SUCCESS
SYNJ1	8867	.	GRCh37	21	34067440	34067440	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1341975632	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	93	159	0	ENST00000433931.2:c.749G>A	p.Arg250Gln	p.R250Q	ENST00000433931	NM_003895.3	250	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33539.2	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCGTTCA	NONE	.	.	Pfam_domain:PF02383,hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200,PROSITE_profiles:PS50275	.	.	ENSP00000409667	.	5/32	.	.	.	.	.	.	.	.	.	5/32	PASS	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	SNV	SYNJ1,missense_variant,p.Arg250Gln,ENST00000382499,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000429236,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000382491,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000322229,;SYNJ1,missense_variant,p.Arg250Gln,ENST00000433931,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000357345,;SYNJ1,downstream_gene_variant,,ENST00000456084,;	757	159	278	SUCCESS
SLC37A1	54020	.	GRCh37	21	43962522	43962522	+	synonymous_variant	Silent	SNP	C	C	T	rs141486944	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	31	73	0	ENST00000352133.2:c.495C>T	p.Asn165=	p.N165=	ENST00000352133		165	aaC/aaT	0	T:0.0134	T:0.0159	.	T:0	.	T	N	protein_coding	YES	CCDS13689.1	495	RADIA|MUSE|VARSCANS	.	ATCAACGGGCT	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,PIRSF_domain:PIRSF002808,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF225,PROSITE_profiles:PS50850	T:0	T:0.0001	ENSP00000344648	T:0	7/20	.	.	.	.	.	.	.	.	rs141486944	7/20	common_in_exac	ENST00000352133	Transcript	.	T:0.0042	ENSG00000160190	11024	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	GLPT_HUMAN	SLC37A1	HGNC	.	.	UPI00001AEB81	SNV	SLC37A1,synonymous_variant,p.%3D,ENST00000398341,;SLC37A1,synonymous_variant,p.%3D,ENST00000352133,;SLC37A1,upstream_gene_variant,,ENST00000487951,;	1477	73	151	SUCCESS
SLC25A17	10478	.	GRCh37	22	41173261	41173261	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	64	241	0	ENST00000435456.2:c.568A>G	p.Lys190Glu	p.K190E	ENST00000435456	NM_006358.2	190	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14005.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTTTAAAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF256,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000390722	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000435456	Transcript	.	.	ENSG00000100372	10987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	PM34_HUMAN	SLC25A17	HGNC	.	.	UPI0000049C3A	SNV	SLC25A17,missense_variant,p.Lys108Glu,ENST00000402844,;SLC25A17,missense_variant,p.Lys190Glu,ENST00000435456,;SLC25A17,missense_variant,p.Lys153Glu,ENST00000544408,;SLC25A17,missense_variant,p.Lys117Glu,ENST00000542412,;SLC25A17,non_coding_transcript_exon_variant,,ENST00000491545,;SLC25A17,downstream_gene_variant,,ENST00000478550,;SLC25A17,missense_variant,p.Lys190Glu,ENST00000420970,;SLC25A17,3_prime_UTR_variant,,ENST00000447566,;SLC25A17,3_prime_UTR_variant,,ENST00000263255,;SLC25A17,3_prime_UTR_variant,,ENST00000430221,;SLC25A17,3_prime_UTR_variant,,ENST00000427084,;SLC25A17,3_prime_UTR_variant,,ENST00000458600,;SLC25A17,downstream_gene_variant,,ENST00000434193,;SLC25A17,downstream_gene_variant,,ENST00000412879,;SLC25A17,downstream_gene_variant,,ENST00000443810,;SLC25A17,downstream_gene_variant,,ENST00000449676,;SLC25A17,downstream_gene_variant,,ENST00000426396,;	702	241	174	SUCCESS
EFCAB6	64800	.	GRCh37	22	44112732	44112732	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	280	103	400	0	ENST00000262726.7:c.878del	p.Leu293HisfsTer30	p.L293Hfs*30	ENST00000262726	NM_022785.3	293	cTa/ca	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS14049.1	878	VARSCANI*|PINDEL	.	ACTTGTAGACAA	NONE	.	.	Gene3D:1.10.238.10	.	.	ENSP00000262726	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000262726	Transcript	.	.	ENSG00000186976	24204	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	deletion	EFCAB6,frameshift_variant,p.Leu293HisfsTer30,ENST00000262726,;EFCAB6,frameshift_variant,p.Leu187HisfsTer30,ENST00000358439,;EFCAB6,frameshift_variant,p.Leu187HisfsTer3,ENST00000356087,;EFCAB6,frameshift_variant,p.Leu141HisfsTer30,ENST00000396231,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	1132	400	383	SUCCESS
PPP6R2	9701	.	GRCh37	22	50876004	50876004	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	78	0	ENST00000216061.5:c.1753G>C	p.Glu585Gln	p.E585Q	ENST00000216061		585	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS56235.1	1675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGAGTTT	NONE	.	.	hmmpanther:PTHR12634:SF15,hmmpanther:PTHR12634	.	.	ENSP00000379090	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000395741	Transcript	.	.	ENSG00000100239	19253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	PP6R2_HUMAN	PPP6R2	HGNC	.	.	UPI0000453B02	SNV	PPP6R2,missense_variant,p.Glu559Gln,ENST00000395741,;PPP6R2,missense_variant,p.Glu187Gln,ENST00000427222,;PPP6R2,missense_variant,p.Glu558Gln,ENST00000395744,;PPP6R2,missense_variant,p.Glu558Gln,ENST00000359139,;PPP6R2,missense_variant,p.Glu311Gln,ENST00000401672,;PPP6R2,missense_variant,p.Glu585Gln,ENST00000216061,;PPP6R2,upstream_gene_variant,,ENST00000473283,;	2050	78	78	SUCCESS
MERTK	10461	.	GRCh37	2	112786337	112786337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	65	0	ENST00000295408.4:c.2896G>C	p.Gly966Arg	p.G966R	ENST00000295408		966	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS2094.1	2896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGGGGTC	NONE	.	.	.	.	.	ENSP00000295408	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000295408	Transcript	.	.	ENSG00000153208	7027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated_low_confidence(0.12)	.	MERTK_HUMAN	MERTK	HGNC	Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN	.	UPI000013E252	SNV	MERTK,missense_variant,p.Gly966Arg,ENST00000295408,;MERTK,missense_variant,p.Gly966Arg,ENST00000421804,;MERTK,missense_variant,p.Gly790Arg,ENST00000409780,;MERTK,downstream_gene_variant,,ENST00000449344,;MERTK,3_prime_UTR_variant,,ENST00000439966,;	3153	65	72	SUCCESS
SMPD4	55627	.	GRCh37	2	130914864	130914864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs572147978	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	336	97	360	1	ENST00000409031.1:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000409031	NM_017951.4	392	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS42751.1	1174	RADIA|MUSE|VARSCANS	.	GTGGGCGGAGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12988,Pfam_domain:PF14724	T:0	.	ENSP00000386531	T:0	12/20	.	.	.	.	.	.	.	.	rs572147978	12/20	PASS	ENST00000409031	Transcript	.	T:0.0004	ENSG00000136699	32949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.013)	T:0.002	tolerated(0.37)	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	SNV	SMPD4,missense_variant,p.Ala250Thr,ENST00000339679,;SMPD4,missense_variant,p.Ala221Thr,ENST00000439886,;SMPD4,missense_variant,p.Ala141Thr,ENST00000453750,;SMPD4,missense_variant,p.Ala363Thr,ENST00000351288,;SMPD4,missense_variant,p.Ala133Thr,ENST00000452225,;SMPD4,missense_variant,p.Ala392Thr,ENST00000409031,;SMPD4,missense_variant,p.Ala56Thr,ENST00000443958,;SMPD4,missense_variant,p.Ala140Thr,ENST00000451542,;SMPD4,missense_variant,p.Ala290Thr,ENST00000431183,;SMPD4,intron_variant,,ENST00000430682,;SMPD4,intron_variant,,ENST00000426662,;SMPD4,upstream_gene_variant,,ENST00000449159,;SMPD4,upstream_gene_variant,,ENST00000457039,;SMPD4,non_coding_transcript_exon_variant,,ENST00000455548,;SMPD4,intron_variant,,ENST00000473720,;SMPD4,missense_variant,p.Ala56Thr,ENST00000435455,;SMPD4,3_prime_UTR_variant,,ENST00000433118,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000412570,;SMPD4,non_coding_transcript_exon_variant,,ENST00000482171,;SMPD4,upstream_gene_variant,,ENST00000461187,;SMPD4,upstream_gene_variant,,ENST00000491319,;SMPD4,upstream_gene_variant,,ENST00000491128,;SMPD4,downstream_gene_variant,,ENST00000439029,;	2323	361	433	SUCCESS
ZEB2	9839	.	GRCh37	2	145147427	145147427	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	44	0	ENST00000409487.3:c.3236C>A	p.Ser1079Tyr	p.S1079Y	ENST00000409487		1079	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2186.1	3236	MUTECT|VARSCANS	.	AGTAGGAATAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.88)	.	deleterious(0)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Ser1055Tyr,ENST00000539609,;ZEB2,missense_variant,p.Ser1079Tyr,ENST00000409487,;ZEB2,missense_variant,p.Ser1079Tyr,ENST00000303660,;ZEB2,missense_variant,p.Ser1079Tyr,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;	4421	44	52	SUCCESS
FMNL2	114793	.	GRCh37	2	153496548	153496548	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	233	317	0	ENST00000288670.9:c.3023T>A	p.Leu1008Gln	p.L1008Q	ENST00000288670	NM_052905.3	1008	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46429.1	3023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGATGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,SMART_domains:SM00498	.	.	ENSP00000288670	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,missense_variant,p.Leu383Gln,ENST00000475377,;FMNL2,missense_variant,p.Leu1008Gln,ENST00000288670,;	3390	317	456	SUCCESS
SCN3A	6328	.	GRCh37	2	165948928	165948928	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	191	337	0	ENST00000360093.3:c.4643A>G	p.Asp1548Gly	p.D1548G	ENST00000360093	NM_001081677.1	1548	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33312.1	4643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCCGTT	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000283254	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Asp1548Gly,ENST00000283254,;SCN3A,missense_variant,p.Asp31Gly,ENST00000540861,;SCN3A,missense_variant,p.Asp1548Gly,ENST00000360093,;SCN3A,missense_variant,p.Asp1499Gly,ENST00000409101,;SCN3A,downstream_gene_variant,,ENST00000440431,;AC013463.2,downstream_gene_variant,,ENST00000431341,;SCN3A,non_coding_transcript_exon_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	5111	337	384	SUCCESS
TTN	7273	.	GRCh37	2	179510675	179510675	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	507	24	392	0	ENST00000591111.1:c.35457T>A	p.Asp11819Glu	p.D11819E	ENST00000591111		11819	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS59435.1	40380	MUTECT|MUSE	.	TTCACATCTTC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	217/363	.	.	.	.	.	.	.	.	.	217/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp167Glu,ENST00000426232,;TTN,missense_variant,p.Asp11819Glu,ENST00000591111,;TTN,missense_variant,p.Asp13460Glu,ENST00000589042,;TTN,missense_variant,p.Asp299Glu,ENST00000446966,;TTN,missense_variant,p.Asp10892Glu,ENST00000342992,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.3,downstream_gene_variant,,ENST00000605021,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000590807,;	40605	392	531	SUCCESS
MYT1L	23040	.	GRCh37	2	1946902	1946902	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	515	25	484	0	ENST00000399161.2:c.357T>A	p.Asp119Glu	p.D119E	ENST00000399161	NM_015025.2	119	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS46222.1	357	MUTECT|MUSE	.	TCCTCATCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(1)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Asp119Glu,ENST00000399161,;MYT1L,missense_variant,p.Asp119Glu,ENST00000428368,;	1027	485	540	SUCCESS
DNAH7	56171	.	GRCh37	2	196674472	196674472	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	329	144	253	0	ENST00000312428.6:c.9885G>A	p.Arg3295=	p.R3295=	ENST00000312428	NM_018897.2	3295	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS42794.1	9885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCCCGCTC	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	52/65	.	.	.	.	.	.	.	.	.	52/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;	9986	253	473	SUCCESS
BZW1	9689	.	GRCh37	2	201677965	201677965	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	59	86	0	ENST00000409600.1:c.25C>T	p.Pro9Ser	p.P9S	ENST00000409600	NM_014670.3	9	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS56155.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCCAACG	NONE	.	.	hmmpanther:PTHR14208,hmmpanther:PTHR14208:SF0	.	.	ENSP00000394316	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000452790	Transcript	.	.	ENSG00000082153	18380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BZW1_HUMAN	BZW1	HGNC	Q3LIC9_HUMAN,D3DN77_HUMAN,C9JWF5_HUMAN,C9JFN4_HUMAN,C9J188_HUMAN,C9IZ80_HUMAN	.	UPI00006C0604	SNV	BZW1,missense_variant,p.Pro13Ser,ENST00000447069,;BZW1,missense_variant,p.Pro9Ser,ENST00000452206,;BZW1,missense_variant,p.Pro9Ser,ENST00000450637,;BZW1,missense_variant,p.Pro41Ser,ENST00000452790,;BZW1,missense_variant,p.Pro13Ser,ENST00000409226,;BZW1,missense_variant,p.Pro9Ser,ENST00000419090,;BZW1,missense_variant,p.Pro9Ser,ENST00000409600,;BZW1,missense_variant,p.Pro9Ser,ENST00000410110,;AC007163.6,upstream_gene_variant,,ENST00000447972,;BZW1,non_coding_transcript_exon_variant,,ENST00000464483,;BZW1,non_coding_transcript_exon_variant,,ENST00000460660,;BZW1,upstream_gene_variant,,ENST00000463310,;	173	86	111	SUCCESS
APOB	338	.	GRCh37	2	21228862	21228862	+	synonymous_variant	Silent	SNP	A	A	C	rs1359068028	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	102	248	0	ENST00000233242.1:c.10878T>G	p.Thr3626=	p.T3626=	ENST00000233242	NM_000384.2	3626	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1703.1	10878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTAGTGTT	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,synonymous_variant,p.%3D,ENST00000233242,;	11006	248	326	SUCCESS
CHPF	79586	.	GRCh37	2	220404778	220404778	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775706899	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	44	1	ENST00000243776.6:c.1655G>A	p.Arg552His	p.R552H	ENST00000243776	NM_024536.5	552	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2443.1	1655	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGGCGCGGC	NONE	byFrequency	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000243776	.	4/4	.	.	.	.	.	.	.	.	rs775706899	4/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.666)	.	tolerated(0.54)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Arg552His,ENST00000243776,;CHPF,missense_variant,p.Arg390His,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	1904	45	26	SUCCESS
COPS8	10920	.	GRCh37	2	237998516	237998516	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	38	142	0	ENST00000354371.2:c.210A>G	p.Glu70=	p.E70=	ENST00000354371	NM_006710.4	70	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS2517.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAACTTGG	NONE	.	.	hmmpanther:PTHR13339,Pfam_domain:PF10075	.	.	ENSP00000346340	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000354371	Transcript	.	.	ENSG00000198612	24335	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN8_HUMAN	COPS8	HGNC	.	.	UPI000006CD9B	SNV	COPS8,synonymous_variant,p.%3D,ENST00000409334,;COPS8,synonymous_variant,p.%3D,ENST00000392008,;COPS8,synonymous_variant,p.%3D,ENST00000354371,;COPS8,synonymous_variant,p.%3D,ENST00000409629,;AC105760.2,upstream_gene_variant,,ENST00000418430,;COPS8,3_prime_UTR_variant,,ENST00000419015,;COPS8,non_coding_transcript_exon_variant,,ENST00000470452,;COPS8,upstream_gene_variant,,ENST00000447464,;	863	142	70	SUCCESS
IGKV1D-39	28893	.	GRCh37	2	89901341	89901341	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	15	0	ENST00000448155.2:c.27C>T	p.Leu9=	p.L9=	ENST00000448155		9	ctC/ctT	0	.	.	.	.	.	T	L	IG_V_gene	YES	.	27	RADIA|SOMATICSNIPER|VARSCANS	.	CAGCTCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Gene3D:2.60.40.10	.	.	ENSP00000406382	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000448155	Transcript	.	.	ENSG00000251546	5756	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGKV1D-39	HGNC	.	.	UPI0000F30383	SNV	IGKV1D-39,synonymous_variant,p.%3D,ENST00000448155,;	50	15	28	SUCCESS
KANSL3	55683	.	GRCh37	2	97285440	97285440	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	143	215	0	ENST00000431828.1:c.446C>G	p.Ser149Cys	p.S149C	ENST00000431828		149	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS46361.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGACTGC	NONE	.	.	hmmpanther:PTHR13136	.	.	ENSP00000396749	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000431828	Transcript	.	.	ENSG00000114982	25473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0.03)	.	KANL3_HUMAN	KANSL3	HGNC	F8WEN2_HUMAN,B4E1W4_HUMAN	.	UPI0000207C82	SNV	KANSL3,missense_variant,p.Ser62Cys,ENST00000599854,;KANSL3,missense_variant,p.Ser149Cys,ENST00000431828,;KANSL3,missense_variant,p.Ser62Cys,ENST00000435669,;KANSL3,missense_variant,p.Ser62Cys,ENST00000441706,;KANSL3,intron_variant,,ENST00000448075,;KANSL3,intron_variant,,ENST00000440133,;KANSL3,non_coding_transcript_exon_variant,,ENST00000464738,;KANSL3,intron_variant,,ENST00000487070,;KANSL3,missense_variant,p.Ser149Cys,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000425656,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000452268,;KANSL3,intron_variant,,ENST00000597150,;KANSL3,intron_variant,,ENST00000444759,;KANSL3,intron_variant,,ENST00000418735,;KANSL3,intron_variant,,ENST00000416138,;KANSL3,intron_variant,,ENST00000451819,;	523	215	277	SUCCESS
ADCY5	111	.	GRCh37	3	123166600	123166600	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	38	0	ENST00000462833.1:c.793C>A	p.Pro265Thr	p.P265T	ENST00000462833	NM_183357.2	265	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3022.1	793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGGGGCC	NONE	.	.	hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	.	.	ENSP00000419361	.	1/21	.	.	.	.	.	.	.	.	COSM727813	1/21	PASS	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.66)	1	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,missense_variant,p.Pro265Thr,ENST00000462833,;	2006	38	51	SUCCESS
RNF13	11342	.	GRCh37	3	149589886	149589886	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138683130	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	34	229	0	ENST00000344229.3:c.266C>T	p.Ser89Leu	p.S89L	ENST00000344229	NM_007282.4	89	tCa/tTa	0	T:0	.	.	.	.	T	S/L	protein_coding	YES	CCDS3146.1	266	RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCATCTG	NONE	.	.	Pfam_domain:PF02225,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF28	.	T:0.0001	ENSP00000341361	.	5/11	.	.	.	.	.	.	.	.	rs138683130	5/11	PASS	ENST00000344229	Transcript	.	.	ENSG00000082996	10057	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.54)	.	RNF13_HUMAN	RNF13	HGNC	F8W989_HUMAN,C9JYY4_HUMAN,C9JYN7_HUMAN,C9JU37_HUMAN,C9JRV0_HUMAN,C9J8T4_HUMAN	.	UPI0000134318	SNV	RNF13,missense_variant,p.Ser89Leu,ENST00000468648,;RNF13,missense_variant,p.Ser89Leu,ENST00000392894,;RNF13,missense_variant,p.Ser89Leu,ENST00000459632,;RNF13,missense_variant,p.Ser89Leu,ENST00000466795,;RNF13,missense_variant,p.Ser89Leu,ENST00000490631,;RNF13,missense_variant,p.Ser89Leu,ENST00000344229,;RNF13,5_prime_UTR_variant,,ENST00000361785,;RNF13,5_prime_UTR_variant,,ENST00000491086,;RNF13,5_prime_UTR_variant,,ENST00000467977,;RNF13,downstream_gene_variant,,ENST00000466478,;RNF13,downstream_gene_variant,,ENST00000470151,;ANKUB1,intron_variant,,ENST00000481585,;RNF13,missense_variant,p.Ser89Leu,ENST00000474348,;RNF13,5_prime_UTR_variant,,ENST00000467996,;	968	229	196	SUCCESS
MCF2L2	23101	.	GRCh37	3	183056602	183056602	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	49	139	0	ENST00000328913.3:c.472A>C	p.Lys158Gln	p.K158Q	ENST00000328913	NM_015078.2	158	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS3243.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTTAAACT	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826,Gene3D:3.40.525.10,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000328118	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious(0.04)	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,missense_variant,p.Lys158Gln,ENST00000414362,;MCF2L2,missense_variant,p.Lys158Gln,ENST00000473233,;MCF2L2,missense_variant,p.Lys158Gln,ENST00000447025,;MCF2L2,missense_variant,p.Lys158Gln,ENST00000328913,;MCF2L2,downstream_gene_variant,,ENST00000482017,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000459750,;	770	139	134	SUCCESS
LEPREL1	0	.	GRCh37	3	189700835	189700835	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	307	20	349	0	ENST00000319332.5:c.1324G>A	p.Gly442Ser	p.G442S	ENST00000319332	NM_018192.3	442	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3294.1	1324	MUTECT|MUSE	.	CTTACCTTCTC	NONE	.	.	hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1	.	.	ENSP00000316881	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000319332	Transcript	.	.	ENSG00000090530	19317	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.542)	.	deleterious(0.04)	.	P3H2_HUMAN	LEPREL1	HGNC	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN	.	UPI000007460B	SNV	LEPREL1,missense_variant,p.Gly261Ser,ENST00000427335,;LEPREL1,missense_variant,p.Gly442Ser,ENST00000319332,;LEPREL1,splice_region_variant,,ENST00000475095,;LEPREL1,splice_region_variant,,ENST00000470925,;	1522	349	327	SUCCESS
SDHAP1	255812	.	GRCh37	3	195709034	195709034	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	22	147	0	ENST00000427841.1:n.898G>T		p.X300_splice	ENST00000427841		300		0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUSE|VARSCANS	.	CTACCCTGTGG	NONE	.	.	.	.	.	.	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000427841	Transcript	.	.	ENSG00000185485	32455	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SDHAP1	HGNC	.	.	.	SNV	SDHAP1,splice_region_variant,,ENST00000413474,;SDHAP1,splice_region_variant,,ENST00000427841,;SDHAP1,downstream_gene_variant,,ENST00000435731,;SDHAP1,downstream_gene_variant,,ENST00000427415,;SDHAP1,splice_region_variant,,ENST00000440850,;SDHAP1,splice_region_variant,,ENST00000538515,;SDHAP1,splice_region_variant,,ENST00000354937,;SDHAP1,splice_region_variant,,ENST00000545003,;	898	147	138	SUCCESS
ITPR1	3708	.	GRCh37	3	4726834	4726834	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	85	0	ENST00000354582.6:c.3646C>T	p.Arg1216Trp	p.R1216W	ENST00000354582		1216	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54551.1	3601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000306253	.	29/61	.	.	.	.	.	.	.	.	.	29/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Arg1201Trp,ENST00000443694,;ITPR1,missense_variant,p.Arg1216Trp,ENST00000354582,;ITPR1,missense_variant,p.Arg1207Trp,ENST00000423119,;ITPR1,missense_variant,p.Arg1192Trp,ENST00000456211,;ITPR1,missense_variant,p.Arg1207Trp,ENST00000357086,;ITPR1,missense_variant,p.Arg1201Trp,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	3951	85	63	SUCCESS
FAM208A	0	.	GRCh37	3	56681065	56681065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	85	175	0	ENST00000493960.2:c.1700G>A	p.Gly567Asp	p.G567D	ENST00000493960	NM_001112736.1	567	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS46853.1	1700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACCAAAA	NONE	.	.	hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.3)	.	deleterious(0.03)	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Gly567Asp,ENST00000355628,;FAM208A,missense_variant,p.Gly567Asp,ENST00000493960,;FAM208A,missense_variant,p.Gly171Asp,ENST00000431842,;	1711	175	172	SUCCESS
MTMR14	64419	.	GRCh37	3	9703950	9703950	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	34	176	0	ENST00000296003.4:c.309-1G>A		p.X103_splice	ENST00000296003	NM_001077525.2	103		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43043.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGGTTTG	NONE	.	.	.	.	.	ENSP00000296003	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296003	Transcript	.	.	ENSG00000163719	26190	.	.	HIGH	2/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMRE_HUMAN	MTMR14	HGNC	.	.	UPI000007423D	SNV	MTMR14,splice_acceptor_variant,,ENST00000351233,;MTMR14,splice_acceptor_variant,,ENST00000353332,;MTMR14,splice_acceptor_variant,,ENST00000296003,;MTMR14,intron_variant,,ENST00000420925,;MTMR14,splice_acceptor_variant,,ENST00000430020,;MTMR14,splice_acceptor_variant,,ENST00000416864,;MTMR14,splice_acceptor_variant,,ENST00000449543,;MTMR14,splice_acceptor_variant,,ENST00000437997,;MTMR14,intron_variant,,ENST00000447144,;	.	176	171	SUCCESS
EMCN	51705	.	GRCh37	4	101401081	101401081	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	608	43	812	0	ENST00000296420.4:c.180T>A	p.Thr60=	p.T60=	ENST00000296420	NM_001159694.1	60	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3655.1	180	MUTECT|MUSE	.	TTAGGAGTTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15869,Pfam_domain:PF07010	.	.	ENSP00000296420	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000296420	Transcript	.	.	ENSG00000164035	16041	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUCEN_HUMAN	EMCN	HGNC	Q53H40_HUMAN,Q4W5J1_HUMAN	.	UPI000003777D	SNV	EMCN,synonymous_variant,p.%3D,ENST00000305864,;EMCN,synonymous_variant,p.%3D,ENST00000296420,;EMCN,synonymous_variant,p.%3D,ENST00000511970,;EMCN,synonymous_variant,p.%3D,ENST00000502569,;EMCN,upstream_gene_variant,,ENST00000506300,;EMCN,non_coding_transcript_exon_variant,,ENST00000512253,;EMCN,non_coding_transcript_exon_variant,,ENST00000502327,;EMCN,non_coding_transcript_exon_variant,,ENST00000506323,;EMCN,downstream_gene_variant,,ENST00000502744,;EMCN,downstream_gene_variant,,ENST00000510657,;	359	812	651	SUCCESS
TNIP3	79931	.	GRCh37	4	122078361	122078361	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1370625471	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	118	292	0	ENST00000057513.3:c.251G>T	p.Arg84Ile	p.R84I	ENST00000057513	NM_024873.5	84	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS58926.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCTTTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2	.	.	ENSP00000426613	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000509841	Transcript	.	.	ENSG00000050730	19315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	TNIP3_HUMAN	TNIP3	HGNC	.	.	UPI00017A8362	SNV	TNIP3,missense_variant,p.Arg161Ile,ENST00000509841,;TNIP3,missense_variant,p.Arg84Ile,ENST00000454328,;TNIP3,missense_variant,p.Arg84Ile,ENST00000057513,;TNIP3,missense_variant,p.Arg154Ile,ENST00000507879,;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;	561	292	323	SUCCESS
JADE1	79960	.	GRCh37	4	129752910	129752910	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	89	156	0	ENST00000226319.6:c.-4G>C		p.*2*	ENST00000226319	NM_199320.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGATCAT	NONE	.	.	.	.	.	ENSP00000226319	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000226319	Transcript	.	.	ENSG00000077684	30027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JADE1_HUMAN	JADE1	HGNC	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN	.	UPI000020B45B	SNV	JADE1,5_prime_UTR_variant,,ENST00000514740,;JADE1,5_prime_UTR_variant,,ENST00000512960,;JADE1,5_prime_UTR_variant,,ENST00000504089,;JADE1,5_prime_UTR_variant,,ENST00000507833,;JADE1,5_prime_UTR_variant,,ENST00000508997,;JADE1,5_prime_UTR_variant,,ENST00000452328,;JADE1,5_prime_UTR_variant,,ENST00000511647,;JADE1,5_prime_UTR_variant,,ENST00000413543,;JADE1,5_prime_UTR_variant,,ENST00000503785,;JADE1,5_prime_UTR_variant,,ENST00000510308,;JADE1,5_prime_UTR_variant,,ENST00000226319,;JADE1,5_prime_UTR_variant,,ENST00000511925,;	277	156	115	SUCCESS
HTT	3064	.	GRCh37	4	3230361	3230361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	32	44	0	ENST00000355072.5:c.7868G>T	p.Trp2623Leu	p.W2623L	ENST00000355072	NM_002111.6	2623	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS43206.1	7868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTGGCTGG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	58/67	.	.	.	.	.	.	.	.	.	58/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Trp2623Leu,ENST00000355072,;HTT,upstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000512068,;	8013	44	66	SUCCESS
PDS5A	23244	.	GRCh37	4	39878616	39878616	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747764651	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	365	28	266	0	ENST00000303538.8:c.2150G>A	p.Arg717Gln	p.R717Q	ENST00000303538	NM_001100399.1	717	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS47045.1	2150	MUTECT|MUSE	.	ACGATCGTATC	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000303427	.	19/33	.	.	.	.	.	.	.	.	rs747764651	19/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.556)	.	tolerated(0.41)	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,missense_variant,p.Arg717Gln,ENST00000303538,;PDS5A,upstream_gene_variant,,ENST00000503696,;PDS5A,upstream_gene_variant,,ENST00000507020,;	2690	266	393	SUCCESS
IL9	3578	.	GRCh37	5	135231424	135231424	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	19	164	0	ENST00000274520.1:c.82C>T	p.Leu28=	p.L28=	ENST00000274520	NM_000590.1	28	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4189.1	82	MUTECT|MUSE|VARSCANS	.	GTCCAGGATCC	NONE	.	.	hmmpanther:PTHR16926,hmmpanther:PTHR16926:SF1,Pfam_domain:PF01415	.	.	ENSP00000274520	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000274520	Transcript	.	.	ENSG00000145839	6029	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL9_HUMAN	IL9	HGNC	.	.	UPI000004F0F9	SNV	IL9,synonymous_variant,p.%3D,ENST00000274520,;GS1-39E22.1,downstream_gene_variant,,ENST00000523722,;GS1-39E22.2,upstream_gene_variant,,ENST00000522973,;	93	164	197	SUCCESS
ANKHD1	54882	.	GRCh37	5	139915024	139915024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	106	232	0	ENST00000360839.2:c.6928G>A	p.Gly2310Arg	p.G2310R	ENST00000360839	NM_017747.2	2310	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS4224.1	6928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAGGAACA	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Gly801Arg,ENST00000435794,;ANKHD1,missense_variant,p.Gly2310Arg,ENST00000360839,;ANKHD1,missense_variant,p.Gly2310Arg,ENST00000297183,;ANKHD1,missense_variant,p.Gly832Arg,ENST00000433049,;ANKHD1-EIF4EBP3,missense_variant,p.Gly321Arg,ENST00000437495,;ANKHD1,missense_variant,p.Gly966Arg,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Gly2310Arg,ENST00000532219,;ANKHD1,intron_variant,,ENST00000432301,;ANKHD1,intron_variant,,ENST00000544120,;SRA1,downstream_gene_variant,,ENST00000602657,;ANKHD1,upstream_gene_variant,,ENST00000421706,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000475148,;ANKHD1,upstream_gene_variant,,ENST00000495578,;	7052	232	266	SUCCESS
TENM2	57451	.	GRCh37	5	167643791	167643791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	85	200	0	ENST00000518659.1:c.4097A>G	p.Asn1366Ser	p.N1366S	ENST00000518659	NM_001122679.1	1366	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	.	4097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAATGGGC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000429430	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.37)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Asn1365Ser,ENST00000545108,;TENM2,missense_variant,p.Asn1127Ser,ENST00000520394,;TENM2,missense_variant,p.Asn1245Ser,ENST00000519204,;TENM2,missense_variant,p.Asn1366Ser,ENST00000518659,;TENM2,missense_variant,p.Asn1190Ser,ENST00000403607,;	4136	200	238	SUCCESS
CDH6	1004	.	GRCh37	5	31297484	31297484	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	117	202	0	ENST00000265071.2:c.612A>G	p.Gly204=	p.G204=	ENST00000265071	NM_004932.3	204	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS3894.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGACAGCC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000265071	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,synonymous_variant,p.%3D,ENST00000514738,;CDH6,synonymous_variant,p.%3D,ENST00000265071,;CDH6,non_coding_transcript_exon_variant,,ENST00000508132,;	877	202	275	SUCCESS
EGFLAM	133584	.	GRCh37	5	38406944	38406944	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	19	280	0	ENST00000354891.3:c.843T>A	p.Pro281=	p.P281=	ENST00000354891	NM_001205301.1	281	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS56363.1	843	MUTECT|MUSE	.	CTTCCTGCTAC	NONE	.	.	hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574	.	.	ENSP00000346964	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;EGFLAM,intron_variant,,ENST00000397202,;EGFLAM-AS2,upstream_gene_variant,,ENST00000512603,;EGFLAM-AS2,upstream_gene_variant,,ENST00000514377,;	1189	280	296	SUCCESS
C5orf28	0	.	GRCh37	5	43446540	43446540	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	12	177	0	ENST00000397080.3:c.432T>G	p.Leu144=	p.L144=	ENST00000397080	NM_022483.4	144	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3945.1	432	MUTECT|MUSE	.	CAGGGAAGAAA	NONE	.	.	hmmpanther:PTHR13628,hmmpanther:PTHR13628:SF1	.	.	ENSP00000426067	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000500337	Transcript	.	.	ENSG00000151881	26139	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE028_HUMAN	C5orf28	HGNC	Q6GMT5_HUMAN,D6RAV6_HUMAN	.	UPI000006FA64	SNV	C5orf28,synonymous_variant,p.%3D,ENST00000397080,;C5orf28,synonymous_variant,p.%3D,ENST00000500337,;C5orf28,synonymous_variant,p.%3D,ENST00000510130,;C5orf28,synonymous_variant,p.%3D,ENST00000537319,;C5orf28,synonymous_variant,p.%3D,ENST00000506860,;C5orf28,synonymous_variant,p.%3D,ENST00000512085,;C5orf28,non_coding_transcript_exon_variant,,ENST00000511525,;	764	177	193	SUCCESS
ADCY2	108	.	GRCh37	5	7773143	7773143	+	synonymous_variant	Silent	SNP	G	G	A	rs1420640013	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	170	332	0	ENST00000338316.4:c.2313G>A	p.Val771=	p.V771=	ENST00000338316	NM_020546.2	771	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3872.2	2313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGGGCTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	18/25	.	.	.	.	.	.	.	.	COSM1544533	18/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,synonymous_variant,p.%3D,ENST00000338316,;ADCY2,synonymous_variant,p.%3D,ENST00000537121,;ADCY2,upstream_gene_variant,,ENST00000493243,;	2402	332	373	SUCCESS
GPR98	0	.	GRCh37	5	89933635	89933635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	10	90	0	ENST00000405460.2:c.2110C>A	p.Pro704Thr	p.P704T	ENST00000405460	NM_032119.3	704	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47246.1	2110	MUTECT|MUSE|VARSCANS	.	TGACCCCGGAT	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	11/90	.	.	.	.	.	.	.	.	.	11/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Pro704Thr,ENST00000405460,;GPR98,missense_variant,p.Pro293Thr,ENST00000504142,;GPR98,upstream_gene_variant,,ENST00000512205,;	2206	90	118	SUCCESS
RNF217	154214	.	GRCh37	6	125402633	125402633	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779617698	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	246	24	258	0	ENST00000521654.2:c.1535G>T	p.Gly512Val	p.G512V	ENST00000521654	NM_001286398.1	512	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5129.1	659	MUTECT|MUSE|VARSCANS	.	ACTAGGGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF103	.	.	ENSP00000352734	.	7/9	.	.	.	.	.	.	.	.	rs779617698	7/9	PASS	ENST00000359704	Transcript	.	.	ENSG00000146373	21487	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.541)	.	deleterious(0.01)	.	RN217_HUMAN	RNF217	HGNC	.	.	UPI000007307D	SNV	RNF217,missense_variant,p.Gly512Val,ENST00000521654,;RNF217,missense_variant,p.Gly74Val,ENST00000368414,;RNF217,missense_variant,p.Gly277Val,ENST00000560949,;RNF217,missense_variant,p.Gly156Val,ENST00000275184,;RNF217,missense_variant,p.Gly220Val,ENST00000359704,;RNF217,3_prime_UTR_variant,,ENST00000519565,;RNF217,non_coding_transcript_exon_variant,,ENST00000368415,;RNF217,downstream_gene_variant,,ENST00000432158,;	997	258	270	SUCCESS
UTRN	7402	.	GRCh37	6	144765510	144765510	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	25	44	0	ENST00000367545.3:c.1606G>T	p.Glu536Ter	p.E536*	ENST00000367545	NM_007124.2	536	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34547.1	1606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000356515	.	13/74	.	.	.	.	.	.	.	.	.	13/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,stop_gained,p.Glu536Ter,ENST00000367545,;	1606	44	35	SUCCESS
RAB32	10981	.	GRCh37	6	146865246	146865246	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1054860397	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	15	110	0	ENST00000367495.3:c.239G>A	p.Trp80Ter	p.W80*	ENST00000367495	NM_006834.3	80	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS5210.1	239	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGGACA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF440,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000356465	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000367495	Transcript	.	.	ENSG00000118508	9772	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB32_HUMAN	RAB32	HGNC	.	.	UPI000000126A	SNV	RAB32,stop_gained,p.Trp80Ter,ENST00000367495,;	418	110	112	SUCCESS
SYNE1	23345	.	GRCh37	6	152631939	152631939	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	28	313	0	ENST00000367255.5:c.16780A>C	p.Thr5594Pro	p.T5594P	ENST00000367255	NM_182961.3	5594	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS5236.2	16780	MUTECT|MUSE|VARSCANS	.	GCTAGTGAGGT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	88/146	.	.	.	.	.	.	.	.	.	88/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.037)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Thr118Pro,ENST00000356820,;SYNE1,missense_variant,p.Thr5523Pro,ENST00000448038,;SYNE1,missense_variant,p.Thr5594Pro,ENST00000367255,;SYNE1,missense_variant,p.Thr5523Pro,ENST00000423061,;SYNE1,missense_variant,p.Thr5206Pro,ENST00000341594,;SYNE1,missense_variant,p.Thr5594Pro,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,downstream_gene_variant,,ENST00000490135,;	17382	313	298	SUCCESS
SYNE1	23345	.	GRCh37	6	152756914	152756914	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	43	0	ENST00000367255.5:c.4310+162T>A		p.*1437*	ENST00000367255	NM_182961.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5236.2	.	MUTECT|MUSE	.	TCTGTATTAGC	NONE	.	.	.	.	.	ENSP00000356224	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODIFIER	33/145	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,3_prime_UTR_variant,,ENST00000367248,;SYNE1,3_prime_UTR_variant,,ENST00000413186,;SYNE1,intron_variant,,ENST00000423061,;SYNE1,intron_variant,,ENST00000448038,;SYNE1,intron_variant,,ENST00000367255,;SYNE1,intron_variant,,ENST00000367253,;SYNE1,intron_variant,,ENST00000341594,;SYNE1,intron_variant,,ENST00000265368,;SYNE1,intron_variant,,ENST00000461872,;	.	43	38	SUCCESS
TRIM31	11074	.	GRCh37	6	30071337	30071337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	57	0	ENST00000376734.3:c.1254G>T	p.Trp418Cys	p.W418C	ENST00000376734	NM_007028.3	418	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS34374.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAACCAAGC	NONE	.	.	.	.	.	ENSP00000365924	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000376734	Transcript	.	.	ENSG00000204616	16289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.17)	.	TRI31_HUMAN	TRIM31	HGNC	Q2L6J1_HUMAN	.	UPI00001B0109	SNV	TRIM31,missense_variant,p.Trp418Cys,ENST00000376734,;TRIM31,missense_variant,p.Trp418Cys,ENST00000540829,;TRIM31-AS1,upstream_gene_variant,,ENST00000440874,;TRIM31,downstream_gene_variant,,ENST00000485864,;TRIM31,non_coding_transcript_exon_variant,,ENST00000471695,;TRIM31,downstream_gene_variant,,ENST00000484583,;TRIM31,downstream_gene_variant,,ENST00000468264,;	1380	57	58	SUCCESS
TNXB	7148	.	GRCh37	6	32010105	32010105	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs774153644	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	387	161	529	0	ENST00000451343.1:c.1532T>G	p.Phe511Cys	p.F511C	ENST00000451343	NM_032470.3	511	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS4736.1	1532	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAAGTCT	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000407685	.	10/13	.	.	.	.	.	.	.	.	rs774153644	10/13	PASS	ENST00000451343	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TENX_HUMAN	TNXB	HGNC	B6RHJ5_HUMAN	.	UPI0000000E8E	SNV	TNXB,missense_variant,p.Phe4080Cys,ENST00000375247,;TNXB,missense_variant,p.Phe511Cys,ENST00000451343,;TNXB,missense_variant,p.Phe4082Cys,ENST00000375244,;CYP21A2,downstream_gene_variant,,ENST00000418967,;CYP21A2,downstream_gene_variant,,ENST00000435122,;CYP21A2,downstream_gene_variant,,ENST00000478281,;CYP21A2,downstream_gene_variant,,ENST00000471671,;TNXB,non_coding_transcript_exon_variant,,ENST00000498094,;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000462278,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000488465,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000464325,;	2441	530	549	SUCCESS
FRS3	10817	.	GRCh37	6	41738507	41738507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	60	0	ENST00000259748.2:c.1329G>T	p.Met443Ile	p.M443I	ENST00000259748		443	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS4860.1	1329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCATGGG	NONE	.	.	hmmpanther:PTHR21258:SF39,hmmpanther:PTHR21258	.	.	ENSP00000362109	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373018	Transcript	.	.	ENSG00000137218	16970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	FRS3_HUMAN	FRS3	HGNC	A6PVU0_HUMAN	.	UPI0000073ACA	SNV	FRS3,missense_variant,p.Met443Ile,ENST00000259748,;FRS3,missense_variant,p.Met443Ile,ENST00000373018,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,;	1581	60	52	SUCCESS
PGK2	5232	.	GRCh37	6	49754008	49754008	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1561922093	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	66	148	1	ENST00000304801.3:c.893T>A	p.Val298Asp	p.V298D	ENST00000304801	NM_138733.4	298	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS4930.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAACCTGA	NONE	.	.	HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1270,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.02)	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,missense_variant,p.Val298Asp,ENST00000304801,;	1046	149	142	SUCCESS
C6orf57	0	.	GRCh37	6	71298368	71298368	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	106	227	0	ENST00000370474.3:c.268G>C	p.Gly90Arg	p.G90R	ENST00000370474	NM_145267.2	90	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS4972.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGGCCCA	NONE	.	.	Pfam_domain:PF07896	.	.	ENSP00000359505	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370474	Transcript	.	.	ENSG00000154079	20957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CF057_HUMAN	C6orf57	HGNC	.	.	UPI000013DD88	SNV	C6orf57,missense_variant,p.Gly90Arg,ENST00000370474,;	292	227	254	SUCCESS
MB21D1	0	.	GRCh37	6	74161889	74161889	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	61	0	ENST00000370315.3:c.16G>A	p.Gly6Arg	p.G6R	ENST00000370315	NM_138441.2	6	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4978.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCGTGCC	NONE	.	.	.	.	.	ENSP00000359339	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000370315	Transcript	.	.	ENSG00000164430	21367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.06)	.	CGAS_HUMAN	MB21D1	HGNC	A6PW79_HUMAN	.	UPI00001AEC2D	SNV	MB21D1,missense_variant,p.Gly6Arg,ENST00000370315,;MB21D1,missense_variant,p.Gly6Arg,ENST00000370318,;	111	61	96	SUCCESS
MYO6	4646	.	GRCh37	6	76599823	76599823	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	114	242	0	ENST00000369977.3:c.2708T>G	p.Val903Gly	p.V903G	ENST00000369977	NM_004999.3	903	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS34487.1	2708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGTTAAAA	NONE	.	.	hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000358994	.	26/35	.	.	.	.	.	.	.	.	.	26/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Val903Gly,ENST00000369985,;MYO6,missense_variant,p.Val903Gly,ENST00000369977,;MYO6,missense_variant,p.Val903Gly,ENST00000369981,;MYO6,missense_variant,p.Val903Gly,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;	2847	242	299	SUCCESS
UBE2J1	51465	.	GRCh37	6	90053437	90053437	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	59	81	0	ENST00000435041.2:c.70G>T	p.Asp24Tyr	p.D24Y	ENST00000435041	NM_016021.2	24	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5021.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCTTTCA	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF54,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000451261	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000435041	Transcript	.	.	ENSG00000198833	17598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	UB2J1_HUMAN	UBE2J1	HGNC	.	.	UPI00000715BA	SNV	UBE2J1,missense_variant,p.Asp24Tyr,ENST00000435041,;	349	81	77	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113518905	113518905	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs4304271	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	118	0	ENST00000284601.3:c.2242G>C	p.Glu748Gln	p.E748Q	ENST00000284601	NM_002711.3	748	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5759.1	2242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCTCTAG	NONE	.	.	.	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	rs4304271,COSM1447383	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.939)	.	deleterious(0.01)	0,1	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,missense_variant,p.Glu748Gln,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	2311	118	138	SUCCESS
MDFIC	29969	.	GRCh37	7	114655974	114655974	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	97	203	0	ENST00000393486.1:c.726T>C	p.Ile242=	p.I242=	ENST00000393486	NM_001166345.1	242	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS34737.1	1053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATTTGTTT	NONE	.	.	hmmpanther:PTHR15304,hmmpanther:PTHR15304:SF0,Pfam_domain:PF15316	.	.	ENSP00000257724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000257724	Transcript	.	.	ENSG00000135272	28870	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MDFIC	HGNC	J3KN13_HUMAN,C9J784_HUMAN	.	UPI000013CF80	SNV	MDFIC,synonymous_variant,p.%3D,ENST00000257724,;MDFIC,synonymous_variant,p.%3D,ENST00000393486,;MDFIC,downstream_gene_variant,,ENST00000498196,;MDFIC,3_prime_UTR_variant,,ENST00000431629,;	1316	203	244	SUCCESS
MKRN1	23608	.	GRCh37	7	140156621	140156621	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777615203	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	42	96	0	ENST00000255977.2:c.817G>T	p.Val273Leu	p.V273L	ENST00000255977	NM_013446.3	273	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS5860.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACGGCAA	NONE	.	.	Superfamily_domains:SSF57850,Gene3D:3.30.40.10,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37	.	.	ENSP00000255977	.	5/8	.	.	.	.	.	.	.	.	rs777615203	5/8	PASS	ENST00000255977	Transcript	.	.	ENSG00000133606	7112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	deleterious(0)	.	MKRN1_HUMAN	MKRN1	HGNC	F5H0I9_HUMAN,C9JYX8_HUMAN,C9J031_HUMAN,C9IY57_HUMAN	.	UPI0000001C5F	SNV	MKRN1,missense_variant,p.Val7Leu,ENST00000437223,;MKRN1,missense_variant,p.Val273Leu,ENST00000443720,;MKRN1,missense_variant,p.Val273Leu,ENST00000255977,;MKRN1,missense_variant,p.Val209Leu,ENST00000474576,;MKRN1,synonymous_variant,p.%3D,ENST00000480552,;MKRN1,downstream_gene_variant,,ENST00000473444,;MKRN1,downstream_gene_variant,,ENST00000494939,;MKRN1,upstream_gene_variant,,ENST00000463142,;MKRN1,downstream_gene_variant,,ENST00000471104,;MKRN1,downstream_gene_variant,,ENST00000467513,;MKRN1,downstream_gene_variant,,ENST00000481705,;MKRN1,synonymous_variant,p.%3D,ENST00000495305,;MKRN1,3_prime_UTR_variant,,ENST00000496169,;MKRN1,non_coding_transcript_exon_variant,,ENST00000468447,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;MKRN1,downstream_gene_variant,,ENST00000475180,;MKRN1,downstream_gene_variant,,ENST00000498535,;	1042	96	120	SUCCESS
KEL	3792	.	GRCh37	7	142639989	142639989	+	synonymous_variant	Silent	SNP	G	G	A	rs367661434	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	7	100	0	ENST00000355265.2:c.1914C>T	p.Asp638=	p.D638=	ENST00000355265	NM_000420.2	638	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS34766.1	1914	MUTECT|MUSE	.	CCAACGTCTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486,Prints_domain:PR00786	.	A:0.0001	ENSP00000347409	.	17/19	.	.	.	.	.	.	.	.	rs367661434,COSM2151305	17/19	PASS	ENST00000355265	Transcript	.	.	ENSG00000197993	6308	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	KELL_HUMAN	KEL	HGNC	Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN	.	UPI000000D923	SNV	KEL,synonymous_variant,p.%3D,ENST00000355265,;C7orf34,downstream_gene_variant,,ENST00000409607,;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000478969,;KEL,non_coding_transcript_exon_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;	2389	100	127	SUCCESS
ZNF783	100289678	.	GRCh37	7	148963616	148963616	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	35	0	ENST00000378052.1:c.215G>T	p.Gly72Val	p.G72V	ENST00000378052		72	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS56519.1	215	RADIA|MUTECT|MUSE	.	CACGGGGACAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12417,hmmpanther:PTHR24390:SF40,hmmpanther:PTHR24390	.	.	ENSP00000410890	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000434415	Transcript	.	.	ENSG00000204946	27222	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	.	ZNF783	HGNC	C9J9J2_HUMAN	.	UPI0000ED938D	SNV	ZNF783,missense_variant,p.Gly72Val,ENST00000434415,;ZNF783,missense_variant,p.Gly72Val,ENST00000378052,;ZNF783,missense_variant,p.Gly72Val,ENST00000476295,;	378	35	57	SUCCESS
SNX13	23161	.	GRCh37	7	17833732	17833732	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	608	32	418	0	ENST00000428135.3:c.2811G>A	p.Lys937=	p.K937=	ENST00000428135	NM_015132.4	937	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS47551.1	2811	MUTECT|MUSE	.	ATCTGCTTTGA	NONE	.	.	hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26	.	.	ENSP00000398789	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000428135	Transcript	.	.	ENSG00000071189	21335	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX13_HUMAN	SNX13	HGNC	B3KN60_HUMAN	.	UPI000002B3E8	SNV	SNX13,synonymous_variant,p.%3D,ENST00000428135,;SNX13,3_prime_UTR_variant,,ENST00000409389,;SNX13,non_coding_transcript_exon_variant,,ENST00000496855,;SNX13,3_prime_UTR_variant,,ENST00000409076,;	3010	418	640	SUCCESS
POM121L12	285877	.	GRCh37	7	53104219	53104219	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	68	63	0	ENST00000408890.4:c.855C>T	p.Leu285=	p.L285=	ENST00000408890	NM_182595.3	285	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43584.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCGAGGT	BUFFER|p.F283F|c.849C>T|3	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,synonymous_variant,p.%3D,ENST00000408890,;	871	63	115	SUCCESS
USP42	84132	.	GRCh37	7	6189266	6189266	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	258	51	183	0	ENST00000306177.5:c.1440del	p.Met481CysfsTer32	p.M481Cfs*32	ENST00000306177	NM_032172.2	480	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS47535.1	1439	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGTTCCATGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	.	ENSP00000301962	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	deletion	USP42,frameshift_variant,p.Met481CysfsTer32,ENST00000306177,;USP42,frameshift_variant,p.Met327CysfsTer32,ENST00000426246,;USP42,frameshift_variant,p.Met414CysfsTer32,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;	1597	183	309	SUCCESS
COL28A1	340267	.	GRCh37	7	7571014	7571014	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752702906	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	46	117	0	ENST00000399429.3:c.646G>A	p.Asp216Asn	p.D216N	ENST00000399429	NM_001037763.2	216	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS43553.1	646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCACTCA	NONE	.	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000382356	.	3/35	.	.	.	.	.	.	.	.	rs752702906	3/35	PASS	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,missense_variant,p.Asp216Asn,ENST00000399429,;	787	117	140	SUCCESS
CDK14	5218	.	GRCh37	7	90355912	90355912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	11	165	0	ENST00000380050.3:c.155G>T	p.Cys52Phe	p.C52F	ENST00000380050	NM_001287137.1	52	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS5619.1	101	MUTECT|MUSE	.	GAACTGCCAGG	NONE	.	.	.	.	.	ENSP00000265741	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000265741	Transcript	.	.	ENSG00000058091	8883	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	CDK14_HUMAN	CDK14	HGNC	C9JWL6_HUMAN,C9IYJ9_HUMAN	.	UPI0000161B93	SNV	CDK14,missense_variant,p.Cys6Phe,ENST00000446790,;CDK14,missense_variant,p.Cys6Phe,ENST00000446224,;CDK14,missense_variant,p.Cys52Phe,ENST00000380050,;CDK14,missense_variant,p.Cys6Phe,ENST00000456689,;CDK14,missense_variant,p.Cys6Phe,ENST00000449528,;CDK14,missense_variant,p.Cys6Phe,ENST00000406263,;CDK14,missense_variant,p.Cys34Phe,ENST00000265741,;CDK14,missense_variant,p.Cys6Phe,ENST00000430760,;CDK14,5_prime_UTR_variant,,ENST00000436577,;CDK14,non_coding_transcript_exon_variant,,ENST00000496279,;CDK14,non_coding_transcript_exon_variant,,ENST00000478540,;CDK14,intron_variant,,ENST00000484035,;CDK14,missense_variant,p.Cys6Phe,ENST00000431029,;	245	165	175	SUCCESS
PVRIG	79037	.	GRCh37	7	99817335	99817335	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	14	0	ENST00000317271.2:c.-198-1G>T		p.X66_splice	ENST00000317271	NM_024070.3	66		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5690.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGCCTA	NONE	.	.	.	.	.	ENSP00000316675	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000317271	Transcript	.	.	ENSG00000213413	32190	.	.	HIGH	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRIG_HUMAN	PVRIG	HGNC	.	.	UPI000013FFF0	SNV	PVRIG,splice_acceptor_variant,,ENST00000317271,;GATS,intron_variant,,ENST00000436886,;AC005071.1,downstream_gene_variant,,ENST00000410550,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000435519,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000414739,;PVRIG,downstream_gene_variant,,ENST00000471803,;GATS,downstream_gene_variant,,ENST00000538588,;GATS,upstream_gene_variant,,ENST00000445230,;STAG3,3_prime_UTR_variant,,ENST00000451963,;GATS,downstream_gene_variant,,ENST00000292369,;	.	14	30	SUCCESS
ADCY8	114	.	GRCh37	8	131793001	131793001	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	78	0	ENST00000286355.5:c.3391C>T	p.Gln1131Ter	p.Q1131*	ENST00000286355	NM_001115.2	1131	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6363.1	3391	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGGATCC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,stop_gained,p.Gln1131Ter,ENST00000286355,;ADCY8,stop_gained,p.Gln1000Ter,ENST00000377928,;	5484	78	119	SUCCESS
DGAT1	8694	.	GRCh37	8	145540247	145540247	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	48	1	ENST00000528718.1:n.580C>T		p.*194*	ENST00000528718		479		0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6420.1	1437	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGTTGAGCAC	NONE	.	.	hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF7,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500231	.	.	ENSP00000332258	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	SNV	DGAT1,synonymous_variant,p.%3D,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,non_coding_transcript_exon_variant,,ENST00000526479,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527438,;HSF1,downstream_gene_variant,,ENST00000533130,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000531447,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,non_coding_transcript_exon_variant,,ENST00000528718,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;DGAT1,downstream_gene_variant,,ENST00000527885,;HSF1,downstream_gene_variant,,ENST00000527328,;	1711	50	55	SUCCESS
RB1CC1	9821	.	GRCh37	8	53569525	53569525	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1429726848	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	314	14	327	0	ENST00000025008.5:c.2864G>A	p.Arg955Gln	p.R955Q	ENST00000025008	NM_014781.4	955	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34892.1	2864	MUTECT|MUSE	.	TTTCTCGTGAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	.	.	ENSP00000025008	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	deleterious_low_confidence(0.01)	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,missense_variant,p.Arg955Gln,ENST00000025008,;RB1CC1,missense_variant,p.Arg955Gln,ENST00000539297,;RB1CC1,missense_variant,p.Arg955Gln,ENST00000435644,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,downstream_gene_variant,,ENST00000523594,;	3388	327	329	SUCCESS
XKR9	389668	.	GRCh37	8	71646369	71646369	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	800	40	495	0	ENST00000408926.3:c.832A>G	p.Ile278Val	p.I278V	ENST00000408926	NM_001011720.1	278	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34905.1	832	MUTECT|MUSE	.	TTAATATTAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32129:SF6,hmmpanther:PTHR32129,Pfam_domain:PF09815	.	.	ENSP00000386141	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000408926	Transcript	.	.	ENSG00000221947	20937	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.47)	.	XKR9_HUMAN	XKR9	HGNC	E5RFF6_HUMAN	.	UPI00004C7A9F	SNV	XKR9,missense_variant,p.Ile278Val,ENST00000408926,;XKR9,missense_variant,p.Ile278Val,ENST00000520030,;XKR9,intron_variant,,ENST00000520273,;XKR9,3_prime_UTR_variant,,ENST00000520092,;	1366	495	840	SUCCESS
TSPYL5	85453	.	GRCh37	8	98289467	98289467	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	48	0	ENST00000322128.3:c.606G>A	p.Met202Ile	p.M202I	ENST00000322128	NM_033512.2	202	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS34927.1	606	MUTECT|MUSE|VARSCANS	.	GTATCCATGCT	NONE	.	.	hmmpanther:PTHR11875:SF30,hmmpanther:PTHR11875,Pfam_domain:PF00956,Superfamily_domains:SSF143113	.	.	ENSP00000322802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322128	Transcript	.	.	ENSG00000180543	29367	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.87)	.	deleterious(0.01)	.	TSYL5_HUMAN	TSPYL5	HGNC	.	.	UPI0000210364	SNV	TSPYL5,missense_variant,p.Met202Ile,ENST00000322128,;	710	48	79	SUCCESS
WDR31	114987	.	GRCh37	9	116082738	116082738	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	56	128	0	ENST00000374193.4:c.679C>G	p.Pro227Ala	p.P227A	ENST00000374193	NM_145241.3	227	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS35110.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGAAACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19869,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000363308	.	9/11	.	.	.	.	.	.	.	.	COSM1701541	9/11	PASS	ENST00000374193	Transcript	.	.	ENSG00000148225	21421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.983)	.	deleterious(0.03)	1	WDR31_HUMAN	WDR31	HGNC	G5E996_HUMAN	.	UPI000006D080	SNV	WDR31,missense_variant,p.Pro102Ala,ENST00000374195,;WDR31,missense_variant,p.Pro226Ala,ENST00000341761,;WDR31,missense_variant,p.Pro227Ala,ENST00000374193,;WDR31,downstream_gene_variant,,ENST00000465979,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,3_prime_UTR_variant,,ENST00000465205,;	926	128	109	SUCCESS
TLR4	7099	.	GRCh37	9	120466694	120466694	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs2737192	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	34	0	ENST00000355622.6:c.-57G>T		p.*19*	ENST00000355622	NM_138557.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6818.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCGAGCCA	NONE	byHapMap	.	.	.	.	ENSP00000363089	.	1/3	.	.	.	.	.	.	.	.	rs2737192	1/3	PASS	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,5_prime_UTR_variant,,ENST00000355622,;TLR4,5_prime_UTR_variant,,ENST00000394487,;RNU6-1082P,downstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,upstream_gene_variant,,ENST00000490685,;	45	34	29	SUCCESS
URM1	81605	.	GRCh37	9	131140322	131140322	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	302	33	398	0	ENST00000372853.4:c.43G>A	p.Ala15Thr	p.A15T	ENST00000372853	NM_001265582.1	15	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS48035.1	43	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTGCGGAG	NONE	.	.	HAMAP:MF_03048,hmmpanther:PTHR14986:SF4,hmmpanther:PTHR14986,Pfam_domain:PF09138,Gene3D:3.10.20.30,Superfamily_domains:SSF54285	.	.	ENSP00000412922	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000452446	Transcript	.	.	ENSG00000167118	28378	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	tolerated(0.1)	.	URM1_HUMAN	URM1	HGNC	.	.	UPI00017A7D83	SNV	URM1,missense_variant,p.Ala15Thr,ENST00000372850,;URM1,missense_variant,p.Ala15Thr,ENST00000452446,;URM1,missense_variant,p.Ala15Thr,ENST00000372853,;URM1,synonymous_variant,p.%3D,ENST00000372847,;URM1,upstream_gene_variant,,ENST00000483206,;URM1,synonymous_variant,p.%3D,ENST00000470840,;	105	398	335	SUCCESS
TMEM8C	0	.	GRCh37	9	136379801	136379801	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770470763	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	95	0	ENST00000339996.3:c.623C>A	p.Pro208Gln	p.P208Q	ENST00000339996	NM_001080483.2	208	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS35170.1	623	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCCGGGGTC	NONE	byFrequency	.	hmmpanther:PTHR14319:SF5,hmmpanther:PTHR14319	.	.	ENSP00000419712	.	5/5	.	.	.	.	.	.	.	.	rs770470763	5/5	PASS	ENST00000339996	Transcript	.	.	ENSG00000187616	33778	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	TMM8C_HUMAN	TMEM8C	HGNC	.	.	UPI00003676C5	SNV	TMEM8C,missense_variant,p.Pro208Gln,ENST00000339996,;TMEM8C,downstream_gene_variant,,ENST00000413714,;	725	95	73	SUCCESS
NFIB	4781	.	GRCh37	9	14307000	14307000	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1363394549	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	77	149	0	ENST00000380959.3:c.550G>A	p.Val184Met	p.V184M	ENST00000380959	NM_005596.3	184	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS55291.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACGTAGT	NONE	.	.	PROSITE_profiles:PS51080,hmmpanther:PTHR11492,hmmpanther:PTHR11492:SF4	.	.	ENSP00000370340	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000380953	Transcript	.	.	ENSG00000147862	7785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.05)	.	NFIB_HUMAN	NFIB	HGNC	.	.	UPI0000211140	SNV	NFIB,missense_variant,p.Val184Met,ENST00000397579,;NFIB,missense_variant,p.Val184Met,ENST00000397581,;NFIB,missense_variant,p.Val184Met,ENST00000380921,;NFIB,missense_variant,p.Val184Met,ENST00000380959,;NFIB,missense_variant,p.Val210Met,ENST00000380934,;NFIB,missense_variant,p.Val184Met,ENST00000397575,;NFIB,missense_variant,p.Val184Met,ENST00000380953,;NFIB,downstream_gene_variant,,ENST00000606230,;NFIB,downstream_gene_variant,,ENST00000493697,;	706	149	147	SUCCESS
SH3GL2	6456	.	GRCh37	9	17787406	17787406	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	84	0	ENST00000380607.4:c.360C>A	p.Ala120=	p.A120=	ENST00000380607	NM_003026.2	120	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6483.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCATGCG	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000369981	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000380607	Transcript	.	.	ENSG00000107295	10831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3G2_HUMAN	SH3GL2	HGNC	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN	.	UPI0000135933	SNV	SH3GL2,synonymous_variant,p.%3D,ENST00000380607,;SH3GL2,synonymous_variant,p.%3D,ENST00000537391,;	480	84	44	SUCCESS
TUSC1	286319	.	GRCh37	9	25677928	25677928	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1329568788	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	23	0	ENST00000358022.3:c.392G>A	p.Arg131Gln	p.R131Q	ENST00000358022	NM_001004125.2	131	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34999.1	392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCGGCGT	BUFFER|p.A129A|c.387A>G|7	.	.	hmmpanther:PTHR22952:SF109,hmmpanther:PTHR22952	.	.	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.56)	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,missense_variant,p.Arg131Gln,ENST00000358022,;	929	23	32	SUCCESS
KCNV2	169522	.	GRCh37	9	2718691	2718691	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	88	0	ENST00000382082.3:c.952C>T	p.Leu318=	p.L318=	ENST00000382082	NM_133497.3	318	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6447.1	952	RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCTGCTG	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	.	ENSP00000371514	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,synonymous_variant,p.%3D,ENST00000382082,;KIAA0020,downstream_gene_variant,,ENST00000490444,;	1190	88	81	SUCCESS
TEK	7010	.	GRCh37	9	27228230	27228230	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs536255448	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	94	0	ENST00000380036.4:c.3227G>T	p.Arg1076Leu	p.R1076L	ENST00000380036	NM_000459.3	1076	cGg/cTg	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS6519.1	3227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGGGAGA	CODON|p.R1076W|c.3226C>T|3	by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109	A:0.001	.	ENSP00000369375	A:0	22/23	.	.	.	.	.	.	.	.	rs536255448	22/23	PASS	ENST00000380036	Transcript	.	A:0.0002	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.363)	A:0	deleterious(0.01)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Arg1033Leu,ENST00000406359,;TEK,missense_variant,p.Arg928Leu,ENST00000519097,;TEK,missense_variant,p.Arg1076Leu,ENST00000380036,;	3669	94	87	SUCCESS
NFX1	4799	.	GRCh37	9	33351695	33351695	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	12	66	0	ENST00000379540.3:c.2562G>A	p.Gln854=	p.Q854=	ENST00000379540	NM_002504.4	854	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS6538.1	2562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGCCCTG	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0,Pfam_domain:PF01422,SMART_domains:SM00438	.	.	ENSP00000368856	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000379540	Transcript	.	.	ENSG00000086102	7803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFX1_HUMAN	NFX1	HGNC	.	.	UPI0000072140	SNV	NFX1,synonymous_variant,p.%3D,ENST00000379540,;NFX1,synonymous_variant,p.%3D,ENST00000379521,;NFX1,downstream_gene_variant,,ENST00000318524,;Y_RNA,downstream_gene_variant,,ENST00000363674,;NFX1,non_coding_transcript_exon_variant,,ENST00000466971,;	2624	66	66	SUCCESS
ZCCHC6	0	.	GRCh37	9	88934568	88934568	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	20	75	0	ENST00000375963.3:c.3046A>T	p.Ile1016Phe	p.I1016F	ENST00000375963	NM_001185059.1	1016	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS35057.1	3046	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAATTGTTG	NONE	.	.	hmmpanther:PTHR12271:SF34,hmmpanther:PTHR12271,Superfamily_domains:SSF81301	.	.	ENSP00000365130	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000375963	Transcript	.	.	ENSG00000083223	25817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.25)	.	TUT7_HUMAN	ZCCHC6	HGNC	.	.	UPI00004588F6	SNV	ZCCHC6,missense_variant,p.Ile1016Phe,ENST00000375961,;ZCCHC6,missense_variant,p.Ile305Phe,ENST00000277141,;ZCCHC6,missense_variant,p.Ile1016Phe,ENST00000375963,;ZCCHC6,intron_variant,,ENST00000375960,;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	3219	75	81	SUCCESS
NOX1	27035	.	GRCh37	X	100105359	100105359	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	92	228	0	ENST00000372966.3:c.914C>T	p.Ser305Phe	p.S305F	ENST00000372966	NM_001271815.1	305	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS14474.1	914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGATGGG	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972,Pfam_domain:PF08022,Gene3D:2.40.30.10,Superfamily_domains:SSF63380	.	.	ENSP00000362057	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000372966	Transcript	.	.	ENSG00000007952	7889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	tolerated(0.12)	.	NOX1_HUMAN	NOX1	HGNC	.	.	UPI00001303C1	SNV	NOX1,missense_variant,p.Ser268Phe,ENST00000372960,;NOX1,missense_variant,p.Ser305Phe,ENST00000217885,;NOX1,missense_variant,p.Ser305Phe,ENST00000372966,;NOX1,intron_variant,,ENST00000372964,;NOX1,upstream_gene_variant,,ENST00000427768,;HNRNPA1P26,downstream_gene_variant,,ENST00000457695,;	1120	228	167	SUCCESS
COL4A5	1287	.	GRCh37	X	107834827	107834827	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs104886113	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	373	138	653	0	ENST00000361603.2:c.1376C>T	p.Pro459Leu	p.P459L	ENST00000361603	NM_000495.4	459	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS35366.1	1376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CCCCCCAGGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023	.	.	ENSP00000331902	.	21/53	.	.	.	.	.	.	.	.	CD961912,rs104886113	21/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	8940267	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Pro459Leu,ENST00000328300,;COL4A5,missense_variant,p.Pro459Leu,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	1620	653	511	SUCCESS
RGAG1	0	.	GRCh37	X	109695251	109695251	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	147	0	ENST00000465301.2:c.1406T>C	p.Met469Thr	p.M469T	ENST00000465301	NM_020769.2	469	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS14552.1	1406	MUTECT|VARSCANS	.	AACAATGGCCA	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(1)	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,missense_variant,p.Met469Thr,ENST00000540313,;RGAG1,missense_variant,p.Met469Thr,ENST00000465301,;RGAG1,downstream_gene_variant,,ENST00000520821,;	1652	147	107	SUCCESS
PAK3	5063	.	GRCh37	X	110439120	110439120	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	216	472	0	ENST00000262836.4:c.1206T>C	p.Asp402=	p.D402=	ENST00000262836	NM_001128173.1	402	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS48151.1	1269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATATAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000353864	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000360648	Transcript	.	.	ENSG00000077264	8592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAK3_HUMAN	PAK3	HGNC	B1AKS5_HUMAN	.	UPI0000D61DBC	SNV	PAK3,synonymous_variant,p.%3D,ENST00000372010,;PAK3,synonymous_variant,p.%3D,ENST00000360648,;PAK3,synonymous_variant,p.%3D,ENST00000446737,;PAK3,synonymous_variant,p.%3D,ENST00000425146,;PAK3,synonymous_variant,p.%3D,ENST00000417227,;PAK3,synonymous_variant,p.%3D,ENST00000518291,;PAK3,synonymous_variant,p.%3D,ENST00000262836,;PAK3,synonymous_variant,p.%3D,ENST00000372007,;PAK3,synonymous_variant,p.%3D,ENST00000519681,;	1296	472	421	SUCCESS
HTR2C	3358	.	GRCh37	X	113965762	113965762	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	492	36	630	0	ENST00000276198.1:c.95C>G	p.Ala32Gly	p.A32G	ENST00000276198	NM_000868.2	32	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS14564.1	95	MUTECT|MUSE	.	AGCAGCTATAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247,Prints_domain:PR00517	.	.	ENSP00000276198	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000276198	Transcript	.	.	ENSG00000147246	5295	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.06)	.	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,missense_variant,p.Ala32Gly,ENST00000371950,;HTR2C,missense_variant,p.Ala32Gly,ENST00000276198,;HTR2C,missense_variant,p.Ala32Gly,ENST00000371951,;	823	630	528	SUCCESS
DOCK11	139818	.	GRCh37	X	117752664	117752664	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	295	31	342	0	ENST00000276202.7:c.3444T>G	p.His1148Gln	p.H1148Q	ENST00000276202	NM_144658.3	1148	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS35373.1	3444	MUTECT|MUSE|VARSCANS	.	AAACATGCATT	NONE	.	.	hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000276202	.	31/53	.	.	.	.	.	.	.	.	.	31/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,missense_variant,p.His1148Gln,ENST00000276204,;DOCK11,missense_variant,p.His1148Gln,ENST00000276202,;	3507	342	326	SUCCESS
TMEM185A	84548	.	GRCh37	X	148690383	148690383	+	synonymous_variant	Silent	SNP	C	C	T	rs150113040	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	69	352	0	ENST00000316916.8:c.354G>A	p.Pro118=	p.P118=	ENST00000316916	NM_032508.2	118	ccG/ccA	0	T:0.0003	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS14689.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCGGCAT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13568:SF2,hmmpanther:PTHR13568,Pfam_domain:PF10269	T:0	T:0	ENSP00000359449	T:0	3/7	.	.	.	.	.	.	.	.	rs150113040	3/7	PASS	ENST00000316916	Transcript	.	T:0.0003	ENSG00000155984	17125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	T185A_HUMAN	TMEM185A	HGNC	.	.	UPI0001AE6FF9	SNV	TMEM185A,synonymous_variant,p.%3D,ENST00000511776,;TMEM185A,synonymous_variant,p.%3D,ENST00000316916,;TMEM185A,synonymous_variant,p.%3D,ENST00000502858,;TMEM185A,synonymous_variant,p.%3D,ENST00000507237,;TMEM185A,synonymous_variant,p.%3D,ENST00000536359,;TMEM185A,3_prime_UTR_variant,,ENST00000502900,;TMEM185A,non_coding_transcript_exon_variant,,ENST00000517359,;TMEM185A,intron_variant,,ENST00000513505,;TMEM185A,intron_variant,,ENST00000502618,;	659	352	315	SUCCESS
GABRA3	2556	.	GRCh37	X	151393310	151393310	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1420749654	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	459	172	758	0	ENST00000370314.4:c.559A>G	p.Ile187Val	p.I187V	ENST00000370314	NM_000808.3	187	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14706.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATTGTTA	NONE	.	.	Superfamily_domains:0038932,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945	.	.	ENSP00000359337	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000370314	Transcript	.	.	ENSG00000011677	4077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.21)	.	GBRA3_HUMAN	GABRA3	HGNC	.	.	UPI000002D730	SNV	GABRA3,missense_variant,p.Ile187Val,ENST00000535043,;GABRA3,missense_variant,p.Ile187Val,ENST00000370314,;	798	758	631	SUCCESS
ATP6AP1	537	.	GRCh37	X	153657461	153657461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	30	226	0	ENST00000369762.2:c.229T>A	p.Tyr77Asn	p.Y77N	ENST00000369762	NM_001183.4	77	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS35451.1	229	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCTACTTA	NONE	.	.	hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF2,Pfam_domain:PF05827	.	.	ENSP00000358777	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000369762	Transcript	.	.	ENSG00000071553	868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	VAS1_HUMAN	ATP6AP1	HGNC	Q9H0C7_HUMAN	.	UPI000013811E	SNV	ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000422890,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000369762,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000449556,;ATP6AP1,upstream_gene_variant,,ENST00000484908,;ATP6AP1,missense_variant,p.Tyr76Asn,ENST00000455205,;ATP6AP1,missense_variant,p.Tyr61Asn,ENST00000429585,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000446552,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000439372,;ATP6AP1,non_coding_transcript_exon_variant,,ENST00000491569,;BX936347.1,upstream_gene_variant,,ENST00000360656,;	290	226	164	SUCCESS
CNKSR2	22866	.	GRCh37	X	21550127	21550127	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	59	319	0	ENST00000379510.3:c.1245T>C	p.Tyr415=	p.Y415=	ENST00000379510	NM_014927.3	415	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS14198.1	1245	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTATGAATA	NONE	.	.	hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Pfam_domain:PF06663	.	.	ENSP00000368824	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000379510	Transcript	.	.	ENSG00000149970	19701	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNKR2_HUMAN	CNKSR2	HGNC	.	.	UPI0000070D72	SNV	CNKSR2,synonymous_variant,p.%3D,ENST00000379510,;CNKSR2,synonymous_variant,p.%3D,ENST00000425654,;CNKSR2,synonymous_variant,p.%3D,ENST00000543067,;CNKSR2,synonymous_variant,p.%3D,ENST00000279451,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000479158,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000485012,;	1281	319	312	SUCCESS
FAM47B	170062	.	GRCh37	X	34962850	34962850	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	14	224	0	ENST00000329357.5:c.1902C>T	p.Tyr634=	p.Y634=	ENST00000329357	NM_152631.2	634	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS14236.1	1902	MUTECT|MUSE	.	AAGTACAAAGA	NONE	.	.	.	.	.	ENSP00000328307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329357	Transcript	.	.	ENSG00000189132	26659	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA47B_HUMAN	FAM47B	HGNC	.	.	UPI000013F47B	SNV	FAM47B,synonymous_variant,p.%3D,ENST00000329357,;	1938	224	197	SUCCESS
CHDC2	0	.	GRCh37	X	36083792	36083792	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	534	189	829	0	ENST00000313548.4:c.-26A>T		p.*9*	ENST00000313548	NM_173695.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14238.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAACTGCA	NONE	.	.	.	.	.	ENSP00000324767	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000313548	Transcript	.	.	ENSG00000176034	26708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHDC2_HUMAN	CHDC2	HGNC	.	.	UPI000006F5CD	SNV	CHDC2,missense_variant,p.Asn168Ile,ENST00000378660,;CHDC2,5_prime_UTR_variant,,ENST00000313548,;	161	830	724	SUCCESS
MAOB	4129	.	GRCh37	X	43741550	43741550	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	113	0	ENST00000378069.4:c.-5G>A		p.*2*	ENST00000378069	NM_000898.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14261.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGCTCGCC	NONE	.	.	.	.	.	ENSP00000367309	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,5_prime_UTR_variant,,ENST00000536181,;MAOB,5_prime_UTR_variant,,ENST00000378069,;MAOB,non_coding_transcript_exon_variant,,ENST00000487544,;MAOB,upstream_gene_variant,,ENST00000468431,;	144	113	103	SUCCESS
ATP7A	538	.	GRCh37	X	77218361	77218361	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	214	0	ENST00000341514.6:c.-21-8757A>G		p.*7*	ENST00000341514	NM_000052.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35339.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAATGCTG	NONE	.	.	.	.	.	ENSP00000345728	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341514	Transcript	.	.	ENSG00000165240	869	.	.	MODIFIER	1/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP7A_HUMAN	ATP7A	HGNC	.	.	UPI000013E478	SNV	ATP7A,intron_variant,,ENST00000343533,;ATP7A,intron_variant,,ENST00000350425,;ATP7A,intron_variant,,ENST00000341514,;RP5-1000K24.2,non_coding_transcript_exon_variant,,ENST00000602791,;RP5-1000K24.2,non_coding_transcript_exon_variant,,ENST00000506043,;	.	214	129	SUCCESS
ATRNL1	26033	.	GRCh37	10	117607492	117607492	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	64	189	0	ENST00000355044.3:c.4008T>A	p.Pro1336=	p.P1336=	ENST00000355044	NM_207303.2	1336	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7592.1	4008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	28/29	.	.	.	.	.	.	.	.	COSM2151486	28/29	nonpreferredpair	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,synonymous_variant,p.%3D,ENST00000423111,;ATRNL1,synonymous_variant,p.%3D,ENST00000355044,;ATRNL1,synonymous_variant,p.%3D,ENST00000303745,;	4134	189	207	SUCCESS
LYZL1	84569	.	GRCh37	10	29599920	29599920	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	96	136	0	ENST00000375500.3:c.517C>A	p.Gln173Lys	p.Q173K	ENST00000375500	NM_032517.4	173	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31174.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCAAGGC	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF26,Pfam_domain:PF00062,Gene3D:1.10.530.10,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00137,Prints_domain:PR00135	.	.	ENSP00000364650	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000375500	Transcript	.	.	ENSG00000120563	30502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated(0.88)	.	LYZL1_HUMAN	LYZL1	HGNC	H0YDZ2_HUMAN	.	UPI000013CA8C	SNV	LYZL1,missense_variant,p.Gln173Lys,ENST00000375500,;LYZL1,intron_variant,,ENST00000494304,;	574	136	175	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49661391	49661391	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	229	14	206	0	ENST00000249601.4:c.944A>G	p.Asn315Ser	p.N315S	ENST00000249601	NM_021226.3	315	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS58080.1	992	MUTECT|MUSE	.	GAATGTTAGGT	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521,PROSITE_profiles:PS50238	.	.	ENSP00000412461	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0.04)	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Asn321Ser,ENST00000435790,;ARHGAP22,missense_variant,p.Asn156Ser,ENST00000374170,;ARHGAP22,missense_variant,p.Asn315Ser,ENST00000249601,;ARHGAP22,missense_variant,p.Asn206Ser,ENST00000374172,;ARHGAP22,missense_variant,p.Asn331Ser,ENST00000417912,;ARHGAP22,missense_variant,p.Asn225Ser,ENST00000417247,;ARHGAP22,upstream_gene_variant,,ENST00000477708,;ARHGAP22,non_coding_transcript_exon_variant,,ENST00000515523,;ARHGAP22,downstream_gene_variant,,ENST00000471013,;ARHGAP22,downstream_gene_variant,,ENST00000489984,;ARHGAP22,3_prime_UTR_variant,,ENST00000460425,;	1148	206	243	SUCCESS
RP11-96C23.11	0	.	GRCh37	10	88768547	88768547	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	956	30	772	0	ENST00000437689.3:n.625C>T		p.*209*	ENST00000437689				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|MUSE	.	AAGTCCCAGGA	NONE	.	995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000451760	Transcript	.	.	ENSG00000229969	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-96C23.10	Clone_based_vega_gene	.	.	.	SNV	RP11-96C23.10,downstream_gene_variant,,ENST00000451760,;AGAP11,non_coding_transcript_exon_variant,,ENST00000444431,;RP11-96C23.5,non_coding_transcript_exon_variant,,ENST00000433214,;RP11-96C23.14,intron_variant,,ENST00000444180,;RP11-96C23.11,non_coding_transcript_exon_variant,,ENST00000437689,;	.	772	987	SUCCESS
TCTN3	26123	.	GRCh37	10	97447351	97447351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	106	144	0	ENST00000371217.5:c.625A>T	p.Arg209Trp	p.R209W	ENST00000371217		209	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31258.2	625	RADIA|MUTECT|MUSE	.	CACCCTGTAAA	NONE	.	.	hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF4,Pfam_domain:PF07773	.	.	ENSP00000360261	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000371217	Transcript	1	.	ENSG00000119977	24519	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	.	TCTN3	HGNC	.	.	UPI000004BA6E	SNV	TCTN3,missense_variant,p.Arg227Trp,ENST00000265993,;TCTN3,missense_variant,p.Arg209Trp,ENST00000371209,;TCTN3,missense_variant,p.Arg209Trp,ENST00000371217,;TCTN3,intron_variant,,ENST00000430368,;TCTN3,intron_variant,,ENST00000497399,;	649	144	192	SUCCESS
DUSP8	1850	.	GRCh37	11	1586842	1586842	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs571594390	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	91	0	ENST00000331588.4:c.215C>T	p.Pro72Leu	p.P72L	ENST00000331588		72	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS7724.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGGCTGG	NONE	by1000G	.	PROSITE_profiles:PS50206,hmmpanther:PTHR10159:SF108,hmmpanther:PTHR10159,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821	A:0	.	ENSP00000380530	A:0.001	2/7	.	.	.	.	.	.	.	.	rs571594390	2/7	nonpreferredpair	ENST00000397374	Transcript	.	A:0.0002	ENSG00000184545	3074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.408)	A:0	tolerated(0.22)	.	DUS8_HUMAN	DUSP8	HGNC	.	.	UPI000000DAD1	SNV	DUSP8,missense_variant,p.Pro72Leu,ENST00000397374,;DUSP8,missense_variant,p.Pro72Leu,ENST00000331588,;	343	91	90	SUCCESS
RAG1	5896	.	GRCh37	11	36597714	36597714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	110	0	ENST00000299440.5:c.2860G>T	p.Gly954Cys	p.G954C	ENST00000299440	NM_000448.2	954	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7902.1	2860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGGCTCC	NONE	.	.	hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,missense_variant,p.Gly954Cys,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	2972	110	107	SUCCESS
OR5D18	219438	.	GRCh37	11	55587248	55587248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	414	25	529	0	ENST00000333976.4:c.143T>C	p.Val48Ala	p.V48A	ENST00000333976	NM_001001952.1	48	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31510.1	143	MUTECT|MUSE	.	GATTGTGATCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.61)	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Val48Ala,ENST00000333976,;	163	529	439	SUCCESS
LRRC55	219527	.	GRCh37	11	56949315	56949315	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	25	0	ENST00000497933.1:c.-53G>C		p.*18*	ENST00000497933	NM_001005210.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31539.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGAAGCC	NONE	.	.	.	.	.	ENSP00000419542	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000497933	Transcript	.	.	ENSG00000183908	32324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC55_HUMAN	LRRC55	HGNC	.	.	UPI00001C0E6F	SNV	LRRC55,5_prime_UTR_variant,,ENST00000497933,;	95	25	20	SUCCESS
SMTNL1	219537	.	GRCh37	11	57317551	57317551	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	136	0	ENST00000399154.2:c.1340T>G	p.Val447Gly	p.V447G	ENST00000399154		447	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	.	1505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTGCAGA	NONE	.	.	hmmpanther:PTHR25069	.	.	ENSP00000406485	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000457912	Transcript	.	.	ENSG00000214872	32394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SMTNL1	HGNC	E9PPJ3_HUMAN,C9J621_HUMAN	.	UPI0000DD8085	SNV	SMTNL1,missense_variant,p.Val484Gly,ENST00000527972,;SMTNL1,missense_variant,p.Val447Gly,ENST00000399154,;SMTNL1,missense_variant,p.Val502Gly,ENST00000457912,;UBE2L6,downstream_gene_variant,,ENST00000287156,;UBE2L6,downstream_gene_variant,,ENST00000340573,;UBE2L6,downstream_gene_variant,,ENST00000527022,;UBE2L6,downstream_gene_variant,,ENST00000526659,;UBE2L6,downstream_gene_variant,,ENST00000528275,;	1505	136	110	SUCCESS
MS4A6A	64231	.	GRCh37	11	59947427	59947427	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	72	167	0	ENST00000530839.1:c.159C>A	p.Ile53=	p.I53=	ENST00000530839	NM_152852.2	53	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS58134.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGATCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF53,Pfam_domain:PF04103	.	.	ENSP00000403212	.	3/6	.	.	.	.	.	.	.	.	COSM929162,COSM929163	3/6	nonpreferredpair	ENST00000412309	Transcript	.	.	ENSG00000110077	13375	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	MS4A6A	HGNC	F8W9K1_HUMAN,E9PNG6_HUMAN,E9PMN8_HUMAN,E9PL03_HUMAN	.	UPI0001F77AB4	SNV	MS4A6A,synonymous_variant,p.%3D,ENST00000528851,;MS4A6A,synonymous_variant,p.%3D,ENST00000534596,;MS4A6A,synonymous_variant,p.%3D,ENST00000529054,;MS4A6A,synonymous_variant,p.%3D,ENST00000420732,;MS4A6A,synonymous_variant,p.%3D,ENST00000323961,;MS4A6A,synonymous_variant,p.%3D,ENST00000532169,;MS4A6A,synonymous_variant,p.%3D,ENST00000530839,;MS4A6A,synonymous_variant,p.%3D,ENST00000412309,;MS4A6A,intron_variant,,ENST00000533023,;MS4A6A,intron_variant,,ENST00000533989,;MS4A6A,intron_variant,,ENST00000426738,;MS4A6A,downstream_gene_variant,,ENST00000531531,;MS4A6A,downstream_gene_variant,,ENST00000533409,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000529906,;MS4A6A,downstream_gene_variant,,ENST00000528925,;MS4A6A,synonymous_variant,p.%3D,ENST00000527254,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000530179,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000526677,;MS4A6A,intron_variant,,ENST00000525549,;MS4A6A,upstream_gene_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000533660,;MS4A6A,downstream_gene_variant,,ENST00000526697,;	261	167	141	SUCCESS
DNHD1	144132	.	GRCh37	11	6566486	6566486	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	78	0	ENST00000254579.6:c.4317T>A	p.Pro1439=	p.P1439=	ENST00000254579	NM_144666.2	1439	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS44532.1	4317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCTGCA	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000254579	.	21/43	.	.	.	.	.	.	.	.	.	21/43	nonpreferredpair	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,synonymous_variant,p.%3D,ENST00000527990,;DNHD1,synonymous_variant,p.%3D,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000533649,;	4881	78	43	SUCCESS
TPP1	1200	.	GRCh37	11	6638385	6638385	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs56144125	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	141	1	ENST00000299427.6:c.509-1G>A		p.X170_splice	ENST00000299427	NM_000391.3	170		0	G:0	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS7770.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CCCCACTGTAG	NONE	byCluster|by1000G	.	.	T:0	G:0.001	ENSP00000299427	T:0.001	.	.	.	.	.	.	.	.	.	CS991344,CS971663,rs56144125	.	nonpreferredpair	ENST00000299427	Transcript	.	T:0.0002	ENSG00000166340	2073	.	.	HIGH	5/12	PRIMARY	.	.	.	.	4	1,1,1	.	.	.	T:0	.	.	TPP1_HUMAN	TPP1	HGNC	E9PME9_HUMAN,D3DQU2_HUMAN	.	UPI0000001109	SNV	TPP1,splice_acceptor_variant,,ENST00000533371,;TPP1,splice_acceptor_variant,,ENST00000299427,;TPP1,intron_variant,,ENST00000436873,;TAF10,upstream_gene_variant,,ENST00000299424,;TPP1,downstream_gene_variant,,ENST00000528657,;DCHS1,downstream_gene_variant,,ENST00000299441,;RP11-732A19.9,upstream_gene_variant,,ENST00000545572,;RP11-732A19.5,upstream_gene_variant,,ENST00000526456,;TPP1,splice_acceptor_variant,,ENST00000534644,;TPP1,non_coding_transcript_exon_variant,,ENST00000528807,;TPP1,non_coding_transcript_exon_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000524924,;TAF10,upstream_gene_variant,,ENST00000531760,;TPP1,downstream_gene_variant,,ENST00000530040,;TPP1,downstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524611,;TPP1,upstream_gene_variant,,ENST00000532191,;TPP1,splice_acceptor_variant,,ENST00000528571,;TPP1,non_coding_transcript_exon_variant,,ENST00000428886,;TPP1,downstream_gene_variant,,ENST00000531754,;TPP1,downstream_gene_variant,,ENST00000528917,;TAF10,upstream_gene_variant,,ENST00000532344,;	.	142	120	SUCCESS
SHANK2	22941	.	GRCh37	11	70333710	70333710	+	synonymous_variant	Silent	SNP	C	C	T	rs141694314	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	142	1	ENST00000423696.2:c.1551G>A	p.Pro517=	p.P517=	ENST00000423696		517	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	.	2691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACGGGGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	32/33	.	.	.	.	.	.	.	.	rs141694314,COSM931503,COSM931504	32/33	nonpreferredpair	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,synonymous_variant,p.%3D,ENST00000409161,;SHANK2,synonymous_variant,p.%3D,ENST00000424924,;SHANK2,synonymous_variant,p.%3D,ENST00000423696,;SHANK2,synonymous_variant,p.%3D,ENST00000294018,;SHANK2,synonymous_variant,p.%3D,ENST00000338508,;SHANK2,synonymous_variant,p.%3D,ENST00000449833,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000426687,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000449116,;	2691	143	112	SUCCESS
FAT3	120114	.	GRCh37	11	92565042	92565042	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	67	0	ENST00000298047.6:c.9736C>T	p.Pro3246Ser	p.P3246S	ENST00000298047		3246	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	.	9736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGCCTGAG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	13/27	.	.	.	.	.	.	.	.	.	13/27	nonpreferredpair	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Pro3246Ser,ENST00000298047,;FAT3,missense_variant,p.Pro3246Ser,ENST00000409404,;FAT3,missense_variant,p.Pro3096Ser,ENST00000525166,;	9753	67	63	SUCCESS
PANX1	24145	.	GRCh37	11	93911635	93911635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	12	285	0	ENST00000227638.3:c.422T>C	p.Phe141Ser	p.F141S	ENST00000227638	NM_015368.3	141	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS8296.1	422	MUTECT|MUSE	.	GAAGTTTATCA	NONE	.	.	Pfam_domain:PF00876,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF5,PROSITE_profiles:PS51013	.	.	ENSP00000227638	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000227638	Transcript	.	.	ENSG00000110218	8599	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PANX1_HUMAN	PANX1	HGNC	.	.	UPI000004C63F	SNV	PANX1,missense_variant,p.Phe141Ser,ENST00000436171,;PANX1,missense_variant,p.Phe141Ser,ENST00000227638,;	807	285	211	SUCCESS
NOS1	4842	.	GRCh37	12	117696859	117696859	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	34	126	0	ENST00000317775.6:c.2444G>T	p.Gly815Val	p.G815V	ENST00000317775	NM_000620.4	815	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS55890.1	2444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCCAAAG	NONE	.	.	Prints_domain:PR00369,Superfamily_domains:SSF52218,PIRSF_domain:PIRSF000333,Pfam_domain:PF00258,Gene3D:3.40.50.360,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,PROSITE_profiles:PS50902	.	.	ENSP00000337459	.	14/29	.	.	.	.	.	.	.	.	.	14/29	nonpreferredpair	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Gly815Val,ENST00000317775,;NOS1,missense_variant,p.Gly815Val,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	2449	126	143	SUCCESS
DNAH10	196385	.	GRCh37	12	124399402	124399402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	66	0	ENST00000409039.3:c.10224G>T	p.Trp3408Cys	p.W3408C	ENST00000409039	NM_207437.3	3408	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS9255.2	10224	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGGGATC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000386770	.	61/78	.	.	.	.	.	.	.	.	.	61/78	nonpreferredpair	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Trp3408Cys,ENST00000409039,;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,downstream_gene_variant,,ENST00000542348,;	10249	66	116	SUCCESS
ABCD2	225	.	GRCh37	12	39973407	39973407	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	38	0	ENST00000308666.3:c.1807A>T	p.Met603Leu	p.M603L	ENST00000308666	NM_005164.3	603	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS8734.1	1807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCATAACAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000310688	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000308666	Transcript	.	.	ENSG00000173208	66	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.74)	.	ABCD2_HUMAN	ABCD2	HGNC	.	.	UPI000004C4C6	SNV	ABCD2,missense_variant,p.Met603Leu,ENST00000308666,;	1943	38	58	SUCCESS
LRRK2	120892	.	GRCh37	12	40745384	40745384	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371284884	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	9	141	0	ENST00000298910.7:c.6425G>A	p.Arg2142Lys	p.R2142K	ENST00000298910	NM_198578.3	2142	aGa/aAa	0	A:0.0002	.	.	.	.	A	R/K	protein_coding	YES	CCDS31774.1	6425	MUTECT|MUSE	.	GACGAGACGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	.	A:0	ENSP00000298910	.	44/51	.	.	.	.	.	.	.	.	rs371284884	44/51	nonpreferredpair	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.13)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Arg2142Lys,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	6483	141	166	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43769288	43769288	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	264	14	272	0	ENST00000389420.3:c.5340T>A	p.Phe1780Leu	p.F1780L	ENST00000389420	NM_025003.3	1780	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS31778.2	5340	MUTECT|MUSE	.	CCATTAAAAGG	NONE	.	.	PROSITE_profiles:PS51046,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF08685	.	.	ENSP00000374071	.	36/39	.	.	.	.	.	.	.	.	.	36/39	nonpreferredpair	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.276)	.	tolerated(0.11)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Phe1780Leu,ENST00000389420,;	5340	272	278	SUCCESS
LRP1	4035	.	GRCh37	12	57599015	57599015	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	67	1	ENST00000243077.3:c.11318A>G	p.Glu3773Gly	p.E3773G	ENST00000243077	NM_002332.2	3773	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8932.1	11318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00181,SMART_domains:SM00192,SMART_domains:SM00179,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	73/89	.	.	.	.	.	.	.	.	.	73/89	nonpreferredpair	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Glu3773Gly,ENST00000243077,;LRP1,downstream_gene_variant,,ENST00000555124,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,non_coding_transcript_exon_variant,,ENST00000451724,;LRP1,downstream_gene_variant,,ENST00000555941,;LRP1,downstream_gene_variant,,ENST00000556247,;	11784	68	64	SUCCESS
A2ML1	144568	.	GRCh37	12	9020503	9020503	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	86	201	0	ENST00000299698.7:c.3783G>A	p.Glu1261=	p.E1261=	ENST00000299698	NM_144670.4	1261	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS8596.2	3783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGATCAA	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412	.	.	ENSP00000299698	.	30/36	.	.	.	.	.	.	.	.	.	30/36	nonpreferredpair	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,synonymous_variant,p.%3D,ENST00000299698,;A2ML1,synonymous_variant,p.%3D,ENST00000541459,;A2ML1,synonymous_variant,p.%3D,ENST00000539547,;A2ML1,upstream_gene_variant,,ENST00000537475,;	3963	201	227	SUCCESS
COL4A1	1282	.	GRCh37	13	110804702	110804702	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs201012509	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	63	0	ENST00000375820.4:c.4907T>C	p.Ile1636Thr	p.I1636T	ENST00000375820	NM_001845.4	1636	aTa/aCa	0	.	G:0	.	G:0	.	G	I/T	protein_coding	YES	CCDS9511.1	4907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTATGGTG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51403,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Gene3D:1t60D00,Pfam_domain:PF01413,SMART_domains:SM00111,Superfamily_domains:SSF56436	G:0.001	.	ENSP00000364979	G:0	51/52	.	.	.	.	.	.	.	.	rs201012509	51/52	nonpreferredpair	ENST00000375820	Transcript	.	G:0.0002	ENSG00000187498	2202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	G:0	.	.	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	SNV	COL4A1,missense_variant,p.Ile1636Thr,ENST00000375820,;	5029	63	117	SUCCESS
PDX1	3651	.	GRCh37	13	28498525	28498525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	56	96	0	ENST00000381033.4:c.539C>T	p.Ala180Val	p.A180V	ENST00000381033	NM_000209.3	180	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9327.1	539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGCTGTCA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF180,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000370421	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000381033	Transcript	.	.	ENSG00000139515	6107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDX1_HUMAN	PDX1	HGNC	.	.	UPI000012D7D9	SNV	PDX1,missense_variant,p.Ala180Val,ENST00000381033,;PDX1-AS1,upstream_gene_variant,,ENST00000499662,;	658	96	71	SUCCESS
RB1	5925	.	GRCh37	13	48881512	48881512	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	159	254	0	ENST00000267163.4:c.234G>A	p.Trp78Ter	p.W78*	ENST00000267163	NM_000321.2	78	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS31973.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGGGAGAA	BUFFER|p.W75*|c.225G>A|3,BUFFER|p.S82P|c.244T>C|6,BUFFER|p.S82P|c.244T>C|6	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	2/27	.	.	.	.	.	.	.	.	COSM13406	2/27	nonpreferredpair	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,stop_gained,p.Trp78Ter,ENST00000267163,;LINC00441,upstream_gene_variant,,ENST00000436963,;LINC00441,upstream_gene_variant,,ENST00000433480,;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	372	254	214	SUCCESS
DCT	1638	.	GRCh37	13	95131263	95131263	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763411727	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	40	71	0	ENST00000377028.5:c.247C>T	p.Arg83Cys	p.R83C	ENST00000377028	NM_001922.3	83	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45060.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACGGTCAT	CODON|p.R83H|c.248G>A|3	byFrequency	.	Superfamily_domains:SSF48056,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4	.	.	ENSP00000392762	.	1/10	.	.	.	.	.	.	.	.	rs763411727,COSM1368018,COSM1368017	1/10	nonpreferredpair	ENST00000446125	Transcript	.	.	ENSG00000080166	2709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	TYRP2_HUMAN	DCT	HGNC	Q9NQD8_HUMAN,Q0PK43_HUMAN	.	UPI0000E13F02	SNV	DCT,missense_variant,p.Arg83Cys,ENST00000377028,;DCT,missense_variant,p.Arg83Cys,ENST00000446125,;DCT,non_coding_transcript_exon_variant,,ENST00000472871,;	674	71	86	SUCCESS
INF2	64423	.	GRCh37	14	105174811	105174811	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530285485	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	77	0	ENST00000392634.4:c.1774G>A	p.Ala592Thr	p.A592T	ENST00000392634	NM_022489.3	592	Gcc/Acc	0	.	A:0	.	A:0.0014	.	A	A/T	protein_coding	YES	CCDS9989.2	1774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACGCCGAG	NONE	by1000G	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498	A:0	.	ENSP00000376410	A:0	9/23	.	.	.	.	.	.	.	.	rs530285485	9/23	nonpreferredpair	ENST00000392634	Transcript	1	A:0.0002	ENSG00000203485	23791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	tolerated(0.55)	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,missense_variant,p.Ala60Thr,ENST00000252527,;INF2,missense_variant,p.Ala592Thr,ENST00000330634,;INF2,missense_variant,p.Ala592Thr,ENST00000392634,;INF2,downstream_gene_variant,,ENST00000398337,;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000477497,;INF2,upstream_gene_variant,,ENST00000480763,;	1886	77	74	SUCCESS
BTBD6	90135	.	GRCh37	14	105716439	105716439	+	synonymous_variant	Silent	SNP	C	C	T	rs754243515	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	22	59	0	ENST00000392554.3:c.888C>T	p.Gly296=	p.G296=	ENST00000392554		296	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10002.2	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGGCGCTGC	NONE	byFrequency	.	hmmpanther:PTHR24413:SF4,hmmpanther:PTHR24413,SMART_domains:SM00875	.	.	ENSP00000376337	.	4/4	.	.	.	.	.	.	.	.	rs754243515	4/4	nonpreferredpair	ENST00000392554	Transcript	.	.	ENSG00000184887	19897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBD6_HUMAN	BTBD6	HGNC	F8VPC8_HUMAN	.	UPI00001FDD27	SNV	BTBD6,synonymous_variant,p.%3D,ENST00000536364,;BTBD6,synonymous_variant,p.%3D,ENST00000392554,;BTBD6,synonymous_variant,p.%3D,ENST00000537513,;BTBD6,synonymous_variant,p.%3D,ENST00000327471,;BTBD6,synonymous_variant,p.%3D,ENST00000463376,;BRF1,intron_variant,,ENST00000379937,;BRF1,intron_variant,,ENST00000546417,;BRF1,intron_variant,,ENST00000546474,;BRF1,intron_variant,,ENST00000327359,;BRF1,intron_variant,,ENST00000440513,;BRF1,upstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000550375,;BRF1,downstream_gene_variant,,ENST00000550692,;BRF1,upstream_gene_variant,,ENST00000552127,;BRF1,upstream_gene_variant,,ENST00000392557,;BRF1,upstream_gene_variant,,ENST00000446501,;BRF1,upstream_gene_variant,,ENST00000551787,;BRF1,upstream_gene_variant,,ENST00000379932,;BTBD6,non_coding_transcript_exon_variant,,ENST00000392553,;	1185	59	35	SUCCESS
LTB4R	1241	.	GRCh37	14	24780969	24780969	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	41	154	0	ENST00000345363.3:c.-57G>A		p.*19*	ENST00000345363				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9625.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCCCTT	NONE	.	.	.	.	.	ENSP00000445772	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000543919	Transcript	.	.	ENSG00000213906	19260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LT4R2_HUMAN	LTB4R2	HGNC	E9PNJ6_HUMAN,E9PIC1_HUMAN	.	UPI000003C105	SNV	LTB4R2,3_prime_UTR_variant,,ENST00000543919,;LTB4R,5_prime_UTR_variant,,ENST00000345363,;LTB4R2,3_prime_UTR_variant,,ENST00000533293,;LTB4R2,3_prime_UTR_variant,,ENST00000528054,;LTB4R,intron_variant,,ENST00000553481,;LTB4R2,downstream_gene_variant,,ENST00000527924,;LTB4R,upstream_gene_variant,,ENST00000396782,;LTB4R2,downstream_gene_variant,,ENST00000530080,;CIDEB,upstream_gene_variant,,ENST00000554411,;CIDEB,upstream_gene_variant,,ENST00000336557,;CIDEB,upstream_gene_variant,,ENST00000258807,;NOP9,downstream_gene_variant,,ENST00000267425,;LTB4R,upstream_gene_variant,,ENST00000396789,;LTB4R,upstream_gene_variant,,ENST00000556141,;CIDEB,upstream_gene_variant,,ENST00000555817,;CIDEB,upstream_gene_variant,,ENST00000555471,;	1270	154	143	SUCCESS
FOXG1	2290	.	GRCh37	14	29237217	29237217	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	119	0	ENST00000313071.4:c.732C>A	p.Arg244=	p.R244=	ENST00000313071	NM_005249.4	244	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9636.1	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGCCACTA	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,synonymous_variant,p.%3D,ENST00000313071,;FOXG1,synonymous_variant,p.%3D,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	1101	119	78	SUCCESS
MIS18BP1	55320	.	GRCh37	14	45716510	45716510	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1594530030	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	58	0	ENST00000310806.4:c.-21G>A		p.*7*	ENST00000310806	NM_018353.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCAAGTT	NONE	.	.	.	.	.	ENSP00000309790	.	2/17	.	.	.	.	.	.	.	.	.	2/17	nonpreferredpair	ENST00000310806	Transcript	.	.	ENSG00000129534	20190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M18BP_HUMAN	MIS18BP1	HGNC	C9J2Q8_HUMAN	.	UPI00001FD488	SNV	MIS18BP1,5_prime_UTR_variant,,ENST00000451174,;MIS18BP1,5_prime_UTR_variant,,ENST00000310806,;MIS18BP1,intron_variant,,ENST00000494512,;MIS18BP1,upstream_gene_variant,,ENST00000492652,;MIS18BP1,5_prime_UTR_variant,,ENST00000454990,;MIS18BP1,upstream_gene_variant,,ENST00000453142,;	439	58	29	SUCCESS
ATL1	51062	.	GRCh37	14	51087446	51087446	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	85	0	ENST00000358385.6:c.990+2T>A		p.X330_splice	ENST00000358385	NM_015915.4	330		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9700.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTATCAC	NONE	.	.	.	.	.	ENSP00000351155	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000358385	Transcript	.	.	ENSG00000198513	11231	.	.	HIGH	9/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATLA1_HUMAN	ATL1	HGNC	G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN	.	UPI0000073893	SNV	ATL1,splice_donor_variant,,ENST00000354525,;ATL1,splice_donor_variant,,ENST00000441560,;ATL1,splice_donor_variant,,ENST00000357032,;ATL1,splice_donor_variant,,ENST00000358385,;ATL1,intron_variant,,ENST00000555266,;	.	86	86	SUCCESS
GALNT16	57452	.	GRCh37	14	69814760	69814760	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	37	0	ENST00000337827.4:c.1539+41A>T		p.*513*	ENST00000337827	NM_020692.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32107.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGAGGGGC	NONE	.	.	.	.	.	ENSP00000336729	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000337827	Transcript	.	.	ENSG00000100626	23233	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLT16_HUMAN	GALNT16	HGNC	Q68VJ8_HUMAN	.	UPI000004D296	SNV	GALNT16,missense_variant,p.Glu527Val,ENST00000553669,;GALNT16,intron_variant,,ENST00000448469,;GALNT16,intron_variant,,ENST00000337827,;GALNT16,upstream_gene_variant,,ENST00000556829,;GALNT16,missense_variant,p.Glu527Val,ENST00000553471,;	.	37	50	SUCCESS
MLH3	27030	.	GRCh37	14	75513372	75513372	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	52	303	0	ENST00000355774.2:c.2987del	p.Gly996GlufsTer10	p.G996Efs*10	ENST00000355774	NM_001040108.1	996	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32123.1	2987	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTTCCTATC	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7	.	.	ENSP00000348020	.	2/13	.	.	.	.	.	.	.	.	.	2/13	nonpreferredpair	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	deletion	MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000556257,;MLH3,frameshift_variant,p.Gly53GlufsTer10,ENST00000553713,;MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000238662,;MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000556740,;MLH3,frameshift_variant,p.Gly996GlufsTer10,ENST00000355774,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000544985,;MLH3,downstream_gene_variant,,ENST00000557648,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,non_coding_transcript_exon_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	3203	303	299	SUCCESS
TMED10	10972	.	GRCh37	14	75614379	75614379	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	55	130	0	ENST00000303575.4:c.399A>C	p.Lys133Asn	p.K133N	ENST00000303575	NM_006827.5	133	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS9840.1	399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTTTTCGC	NONE	.	.	PROSITE_profiles:PS50866,hmmpanther:PTHR22811:SF58,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000303145	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000303575	Transcript	.	.	ENSG00000170348	16998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.02)	.	TMEDA_HUMAN	TMED10	HGNC	B4DZH3_HUMAN	.	UPI0000137068	SNV	TMED10,missense_variant,p.Lys133Asn,ENST00000303575,;TMED10,non_coding_transcript_exon_variant,,ENST00000557670,;TMED10,missense_variant,p.Lys133Asn,ENST00000555873,;TMED10,non_coding_transcript_exon_variant,,ENST00000556969,;TMED10,non_coding_transcript_exon_variant,,ENST00000555036,;TMED10,non_coding_transcript_exon_variant,,ENST00000555085,;	451	130	116	SUCCESS
SYNE3	161176	.	GRCh37	14	95918595	95918595	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	94	0	ENST00000334258.5:c.1263G>A	p.Gln421=	p.Q421=	ENST00000334258	NM_152592.3	421	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9935.1	1263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCCTGGAT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	.	.	ENSP00000334308	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000334258	Transcript	.	.	ENSG00000176438	19861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,synonymous_variant,p.%3D,ENST00000554873,;SYNE3,synonymous_variant,p.%3D,ENST00000334258,;SYNE3,synonymous_variant,p.%3D,ENST00000557275,;SYNE3,synonymous_variant,p.%3D,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	1278	94	95	SUCCESS
AQR	9716	.	GRCh37	15	35212596	35212596	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	72	0	ENST00000156471.5:c.1158G>T	p.Leu386Phe	p.L386F	ENST00000156471	NM_014691.2	386	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS42013.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAACAAGCA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901	.	.	ENSP00000156471	.	14/35	.	.	.	.	.	.	.	.	.	14/35	nonpreferredpair	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.466)	.	tolerated(0.06)	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,missense_variant,p.Leu386Phe,ENST00000156471,;AQR,missense_variant,p.Leu386Phe,ENST00000543879,;	1384	72	66	SUCCESS
FSIP1	161835	.	GRCh37	15	39909936	39909936	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	50	142	0	ENST00000350221.3:c.1699G>A	p.Asp567Asn	p.D567N	ENST00000350221	NM_152597.4	567	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10050.1	1699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCTGCTA	NONE	.	.	hmmpanther:PTHR22012,hmmpanther:PTHR22012:SF1	.	.	ENSP00000280236	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000350221	Transcript	.	.	ENSG00000150667	21674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	.	tolerated(0.08)	.	FSIP1_HUMAN	FSIP1	HGNC	.	.	UPI000006F96D	SNV	FSIP1,missense_variant,p.Asp567Asn,ENST00000350221,;	1909	142	94	SUCCESS
CHAC1	79094	.	GRCh37	15	41247963	41247963	+	synonymous_variant	Silent	SNP	G	G	A	rs147315683	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	21	0	ENST00000446533.3:c.786G>A	p.Ala262=	p.A262=	ENST00000446533	NM_024111.3	262	gcG/gcA	0	A:0.0014	A:0.0015	.	A:0	.	A	A	protein_coding	YES	CCDS10070.2	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCTGGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12192,hmmpanther:PTHR12192:SF3	A:0	A:0	ENSP00000398105	A:0	3/3	.	.	.	.	.	.	.	.	rs147315683	3/3	nonpreferredpair	ENST00000446533	Transcript	.	A:0.0004	ENSG00000128965	28680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CHAC1_HUMAN	CHAC1	HGNC	H0YK90_HUMAN	.	UPI00004FB51D	SNV	CHAC1,synonymous_variant,p.%3D,ENST00000487220,;CHAC1,synonymous_variant,p.%3D,ENST00000446533,;CHAC1,synonymous_variant,p.%3D,ENST00000444189,;	1095	21	24	SUCCESS
MAPKBP1	23005	.	GRCh37	15	42115228	42115228	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1308417466	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	58	0	ENST00000456763.2:c.3424G>A	p.Ala1142Thr	p.A1142T	ENST00000456763	NM_001128608.1	1142	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45239.1	3424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGCCAAT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000393099	.	29/32	.	.	.	.	.	.	.	.	.	29/32	nonpreferredpair	ENST00000456763	Transcript	.	.	ENSG00000137802	29536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.27)	.	MABP1_HUMAN	MAPKBP1	HGNC	D6R9F7_HUMAN	.	UPI00002375CB	SNV	MAPKBP1,missense_variant,p.Ala975Thr,ENST00000260357,;MAPKBP1,missense_variant,p.Ala1136Thr,ENST00000457542,;MAPKBP1,missense_variant,p.Ala1142Thr,ENST00000456763,;MAPKBP1,missense_variant,p.Ala1019Thr,ENST00000221214,;MAPKBP1,intron_variant,,ENST00000514566,;RP11-23P13.4,downstream_gene_variant,,ENST00000512295,;RP11-23P13.4,downstream_gene_variant,,ENST00000510176,;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000512433,;MAPKBP1,downstream_gene_variant,,ENST00000506301,;MAPKBP1,downstream_gene_variant,,ENST00000508050,;MAPKBP1,downstream_gene_variant,,ENST00000502695,;	3620	58	54	SUCCESS
MYEF2	50804	.	GRCh37	15	48470360	48470360	+	synonymous_variant	Silent	SNP	C	C	T	rs567102663	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	45	0	ENST00000324324.7:c.75G>A	p.Pro25=	p.P25=	ENST00000324324	NM_016132.3	25	ccG/ccA	0	.	A:0	.	A:0	.	T	P	protein_coding	YES	CCDS32230.1	75	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGGCTC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003	A:0.001	.	ENSP00000316950	A:0	1/17	.	.	.	.	.	.	.	.	rs567102663	1/17	nonpreferredpair	ENST00000324324	Transcript	.	A:0.0004	ENSG00000104177	17940	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,synonymous_variant,p.%3D,ENST00000324324,;MYEF2,synonymous_variant,p.%3D,ENST00000267836,;MYEF2,non_coding_transcript_exon_variant,,ENST00000559862,;MYEF2,synonymous_variant,p.%3D,ENST00000561151,;MYEF2,synonymous_variant,p.%3D,ENST00000561351,;	355	45	18	SUCCESS
AGBL1	123624	.	GRCh37	15	86810275	86810275	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	131	204	0	ENST00000441037.2:c.1668A>G	p.Ser556=	p.S556=	ENST00000441037	NM_152336.2	556	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS58398.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCAGGAAA	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756	.	.	ENSP00000413001	.	12/24	.	.	.	.	.	.	.	.	.	12/24	nonpreferredpair	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	1763	204	236	SUCCESS
FAM174B	400451	.	GRCh37	15	93198581	93198581	+	synonymous_variant	Silent	SNP	G	G	T	rs1212959226	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	117	0	ENST00000327355.5:c.309C>A	p.Thr103=	p.T103=	ENST00000327355	NM_207446.2	103	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45355.1	309	MUTECT|VARSCANS	.	AGGAGGGTGGT	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF06679	.	.	ENSP00000329040	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000327355	Transcript	.	.	ENSG00000185442	34339	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F174B_HUMAN	FAM174B	HGNC	.	.	UPI00001FEBF9	SNV	FAM174B,synonymous_variant,p.%3D,ENST00000327355,;FAM174B,5_prime_UTR_variant,,ENST00000555748,;FAM174B,intron_variant,,ENST00000556824,;FAM174B,intron_variant,,ENST00000557480,;FAM174B,intron_variant,,ENST00000557398,;FAM174B,upstream_gene_variant,,ENST00000555696,;FAM174B,non_coding_transcript_exon_variant,,ENST00000555613,;	608	117	62	SUCCESS
MYH11	4629	.	GRCh37	16	15931795	15931795	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	91	178	0	ENST00000300036.5:c.315G>A	p.Leu105=	p.L105=	ENST00000300036	NM_002474.2	105	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45423.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTCAGGTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000379616	.	2/42	.	.	.	.	.	.	.	.	.	2/42	nonpreferredpair	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,synonymous_variant,p.%3D,ENST00000452625,;MYH11,synonymous_variant,p.%3D,ENST00000576790,;MYH11,synonymous_variant,p.%3D,ENST00000300036,;MYH11,synonymous_variant,p.%3D,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000571505,;	403	178	199	SUCCESS
DOC2A	8448	.	GRCh37	16	30018188	30018188	+	synonymous_variant	Silent	SNP	G	G	T	rs370463371	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	58	0	ENST00000350119.4:c.796C>A	p.Arg266=	p.R266=	ENST00000350119	NM_003586.2	266	Cgg/Agg	0	C:0.0002	.	.	.	.	T	R	protein_coding	YES	CCDS10666.1	796	RADIA|MUSE|VARSCANS	.	TCCCCGGCGCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Prints_domain:PR00399,Superfamily_domains:SSF49562,PIRSF_domain:PIRSF036931,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF204,hmmpanther:PTHR10024	.	C:0	ENSP00000340017	.	8/11	.	.	.	.	.	.	.	.	rs370463371	8/11	nonpreferredpair,oxog	ENST00000350119	Transcript	.	.	ENSG00000149927	2985	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DOC2A_HUMAN	DOC2A	HGNC	H3BU41_HUMAN,H3BSH4_HUMAN,H3BNF7_HUMAN	.	UPI000013DBC8	SNV	DOC2A,synonymous_variant,p.%3D,ENST00000564979,;DOC2A,synonymous_variant,p.%3D,ENST00000350119,;DOC2A,synonymous_variant,p.%3D,ENST00000564944,;DOC2A,synonymous_variant,p.%3D,ENST00000564357,;DOC2A,downstream_gene_variant,,ENST00000563125,;INO80E,downstream_gene_variant,,ENST00000562291,;INO80E,downstream_gene_variant,,ENST00000563197,;INO80E,downstream_gene_variant,,ENST00000304516,;INO80E,downstream_gene_variant,,ENST00000567705,;DOC2A,downstream_gene_variant,,ENST00000565273,;DOC2A,downstream_gene_variant,,ENST00000563378,;DOC2A,downstream_gene_variant,,ENST00000567332,;DOC2A,downstream_gene_variant,,ENST00000574405,;DOC2A,downstream_gene_variant,,ENST00000570194,;DOC2A,synonymous_variant,p.%3D,ENST00000566310,;DOC2A,3_prime_UTR_variant,,ENST00000561671,;DOC2A,non_coding_transcript_exon_variant,,ENST00000564233,;DOC2A,downstream_gene_variant,,ENST00000566456,;INO80E,downstream_gene_variant,,ENST00000567987,;INO80E,downstream_gene_variant,,ENST00000569957,;INO80E,downstream_gene_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000567065,;INO80E,downstream_gene_variant,,ENST00000562441,;	987	58	54	SUCCESS
FBXL19	54620	.	GRCh37	16	30958514	30958514	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772722567	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	19	0	ENST00000380310.2:c.2048G>A	p.Arg683His	p.R683H	ENST00000380310	NM_001099784.2	683	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS45465.1	2048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGCTGCC	NONE	byFrequency	.	hmmpanther:PTHR23125:SF254,hmmpanther:PTHR23125	.	.	ENSP00000369666	.	11/11	.	.	.	.	.	.	.	.	rs772722567	11/11	nonpreferredpair	ENST00000380310	Transcript	.	.	ENSG00000099364	25300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	tolerated(0.15)	.	FXL19_HUMAN	FBXL19	HGNC	H3BVB1_HUMAN,H3BQP6_HUMAN,H3BPZ0_HUMAN	.	UPI00015C725E	SNV	FBXL19,missense_variant,p.Arg547His,ENST00000565690,;FBXL19,missense_variant,p.Arg575His,ENST00000427128,;FBXL19,missense_variant,p.Arg371His,ENST00000471231,;FBXL19,missense_variant,p.Arg683His,ENST00000380310,;FBXL19,missense_variant,p.Arg663His,ENST00000562319,;FBXL19,missense_variant,p.Arg663His,ENST00000338343,;FBXL19,synonymous_variant,p.%3D,ENST00000565939,;FBXL19,intron_variant,,ENST00000566320,;ORAI3,upstream_gene_variant,,ENST00000318663,;ORAI3,upstream_gene_variant,,ENST00000566237,;ORAI3,upstream_gene_variant,,ENST00000562699,;AC135048.13,upstream_gene_variant,,ENST00000562642,;AC135048.13,upstream_gene_variant,,ENST00000566056,;ORAI3,upstream_gene_variant,,ENST00000563161,;	2206	19	21	SUCCESS
ITGAD	3681	.	GRCh37	16	31426269	31426269	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200483957	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	44	84	0	ENST00000389202.2:c.2240G>A	p.Arg747His	p.R747H	ENST00000389202	NM_005353.2	747	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS32438.1	2240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTCCTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	.	A:0.0001	ENSP00000373854	.	18/30	.	.	.	.	.	.	.	.	rs200483957	18/30	nonpreferredpair	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.06)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Arg747His,ENST00000389202,;	2289	85	96	SUCCESS
C16orf96	342346	.	GRCh37	16	4641701	4641701	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs776180665	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	49	239	0	ENST00000444310.4:c.2627A>T	p.Glu876Val	p.E876V	ENST00000444310	NM_001145011.1	876	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS53986.1	2627	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAAATGG	NONE	.	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF81	.	.	ENSP00000415027	.	10/16	.	.	.	.	.	.	.	.	rs776180665	10/16	nonpreferredpair	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.607)	.	deleterious(0)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Glu876Val,ENST00000444310,;	2627	239	299	SUCCESS
RHBDL1	9028	.	GRCh37	16	726998	726998	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778300183	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	78	0	ENST00000219551.2:c.649C>T	p.Arg217Cys	p.R217C	ENST00000219551		217	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	649	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGCCTC	NONE	.	.	hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	.	.	ENSP00000219551	.	3/7	.	.	.	.	.	.	.	.	rs778300183	3/7	nonpreferredpair	ENST00000219551	Transcript	.	.	ENSG00000103269	10007	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.543)	.	tolerated(0.06)	.	RHBL1_HUMAN	RHBDL1	HGNC	.	.	UPI0000048DB3	SNV	RHBDL1,missense_variant,p.Arg152Cys,ENST00000352681,;RHBDL1,missense_variant,p.Arg77Cys,ENST00000561556,;RHBDL1,missense_variant,p.Arg217Cys,ENST00000219551,;STUB1,upstream_gene_variant,,ENST00000565677,;RHOT2,downstream_gene_variant,,ENST00000569197,;JMJD8,downstream_gene_variant,,ENST00000609261,;STUB1,upstream_gene_variant,,ENST00000567173,;RHOT2,downstream_gene_variant,,ENST00000315082,;JMJD8,downstream_gene_variant,,ENST00000454700,;STUB1,upstream_gene_variant,,ENST00000219548,;STUB1,upstream_gene_variant,,ENST00000564316,;JMJD8,downstream_gene_variant,,ENST00000293882,;STUB1,upstream_gene_variant,,ENST00000564370,;STUB1,upstream_gene_variant,,ENST00000566408,;JMJD8,downstream_gene_variant,,ENST00000412368,;LA16c-313D11.9,downstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,downstream_gene_variant,,ENST00000567091,;STUB1,upstream_gene_variant,,ENST00000566181,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000569248,;JMJD8,downstream_gene_variant,,ENST00000568689,;RHOT2,downstream_gene_variant,,ENST00000569358,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000569675,;RHOT2,downstream_gene_variant,,ENST00000602564,;RHOT2,downstream_gene_variant,,ENST00000564659,;JMJD8,downstream_gene_variant,,ENST00000567120,;STUB1,upstream_gene_variant,,ENST00000563505,;RHOT2,downstream_gene_variant,,ENST00000568636,;RHOT2,downstream_gene_variant,,ENST00000562957,;STUB1,upstream_gene_variant,,ENST00000567790,;RHOT2,downstream_gene_variant,,ENST00000565004,;RHOT2,downstream_gene_variant,,ENST00000561711,;	676	78	57	SUCCESS
SLC6A4	6532	.	GRCh37	17	28530206	28530206	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764936225	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	12	121	0	ENST00000261707.3:c.1802C>T	p.Pro601Leu	p.P601L	ENST00000261707	NM_001045.5	601	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11256.1	1802	MUTECT|MUSE	.	TCCCTGGAGTG	NONE	.	.	hmmpanther:PTHR11616:SF105,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000385822	.	13/14	.	.	.	.	.	.	.	.	rs764936225	13/14	nonpreferredpair	ENST00000401766	Transcript	.	.	ENSG00000108576	11050	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.917)	.	deleterious(0)	.	SC6A4_HUMAN	SLC6A4	HGNC	Q9NYN7_HUMAN,J3KPR9_HUMAN,B3VRW0_HUMAN,B3VRV5_HUMAN,B3VRV0_HUMAN,B3VRU5_HUMAN,B3VRU0_HUMAN,B3VRS5_HUMAN,B3VRS0_HUMAN,B3VRR5_HUMAN,B3VRR0_HUMAN,B3VRQ5_HUMAN,B3VRQ0_HUMAN	.	UPI0000135493	SNV	SLC6A4,missense_variant,p.Pro601Leu,ENST00000261707,;SLC6A4,missense_variant,p.Pro601Leu,ENST00000394821,;SLC6A4,missense_variant,p.Pro601Leu,ENST00000401766,;RP11-354P11.4,upstream_gene_variant,,ENST00000581633,;SLC6A4,3_prime_UTR_variant,,ENST00000579221,;SLC6A4,non_coding_transcript_exon_variant,,ENST00000578609,;	2315	121	170	SUCCESS
SLFN11	91607	.	GRCh37	17	33680372	33680372	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	497	26	642	1	ENST00000308377.4:c.1905T>C	p.Pro635=	p.P635=	ENST00000308377	NM_152270.3	635	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11294.1	1905	MUTECT|MUSE	.	CTCAGAGGCTG	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Pfam_domain:PF09848,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,synonymous_variant,p.%3D,ENST00000394566,;SLFN11,synonymous_variant,p.%3D,ENST00000308377,;SLFN11,upstream_gene_variant,,ENST00000592108,;	2178	643	523	SUCCESS
AP2B1	163	.	GRCh37	17	33925274	33925274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	68	127	0	ENST00000312678.8:c.63A>T	p.Glu21Asp	p.E21D	ENST00000312678	NM_001030006.1	21	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS32621.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAACTCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371	.	.	ENSP00000314414	.	3/22	.	.	.	.	.	.	.	.	.	3/22	nonpreferredpair	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.26)	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,missense_variant,p.Glu21Asp,ENST00000589344,;AP2B1,missense_variant,p.Glu21Asp,ENST00000589774,;AP2B1,missense_variant,p.Glu21Asp,ENST00000262325,;AP2B1,missense_variant,p.Glu21Asp,ENST00000312678,;AP2B1,missense_variant,p.Glu21Asp,ENST00000593014,;AP2B1,missense_variant,p.Glu21Asp,ENST00000592545,;AP2B1,missense_variant,p.Glu21Asp,ENST00000590432,;AP2B1,missense_variant,p.Glu21Asp,ENST00000537622,;AP2B1,5_prime_UTR_variant,,ENST00000538556,;AP2B1,non_coding_transcript_exon_variant,,ENST00000588093,;AP2B1,missense_variant,p.Glu21Asp,ENST00000590538,;AP2B1,missense_variant,p.Glu21Asp,ENST00000591610,;AP2B1,missense_variant,p.Glu21Asp,ENST00000592167,;AP2B1,missense_variant,p.Glu21Asp,ENST00000592191,;CTC-507E2.2,upstream_gene_variant,,ENST00000587835,;	193	127	163	SUCCESS
TUBG1	7283	.	GRCh37	17	40766524	40766524	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	12	157	0	ENST00000251413.3:c.1007G>A	p.Ser336Asn	p.S336N	ENST00000251413	NM_001070.4	336	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS11433.1	1007	MUTECT|MUSE|VARSCANS	.	CAAGAGCTTGC	NONE	.	.	Superfamily_domains:SSF55307,SMART_domains:SM00865,Gene3D:3.30.1330.20,Pfam_domain:PF03953,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF62	.	.	ENSP00000251413	.	10/11	.	.	.	.	.	.	.	.	.	10/11	nonpreferredpair	ENST00000251413	Transcript	.	.	ENSG00000131462	12417	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBG1_HUMAN	TUBG1	HGNC	.	.	UPI0000136A56	SNV	TUBG1,missense_variant,p.Ser336Asn,ENST00000251413,;FAM134C,upstream_gene_variant,,ENST00000585894,;FAM134C,upstream_gene_variant,,ENST00000591547,;FAM134C,upstream_gene_variant,,ENST00000588423,;TUBG1,downstream_gene_variant,,ENST00000591509,;TUBG1,3_prime_UTR_variant,,ENST00000589688,;TUBG1,downstream_gene_variant,,ENST00000589613,;TUBG1,downstream_gene_variant,,ENST00000588056,;	1069	157	137	SUCCESS
SPOP	8405	.	GRCh37	17	47677798	47677798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	62	100	0	ENST00000347630.2:c.1067T>A	p.Leu356Gln	p.L356Q	ENST00000347630	NM_001007230.1	356	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11551.1	1067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAGAGAG	NONE	.	.	hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97	.	.	ENSP00000377004	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000393331	Transcript	.	.	ENSG00000121067	11254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SPOP_HUMAN	SPOP	HGNC	D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN	.	UPI0000003F5C	SNV	SPOP,missense_variant,p.Leu356Gln,ENST00000503676,;SPOP,missense_variant,p.Leu356Gln,ENST00000393331,;SPOP,missense_variant,p.Leu356Gln,ENST00000393328,;SPOP,missense_variant,p.Leu356Gln,ENST00000504102,;SPOP,missense_variant,p.Leu356Gln,ENST00000347630,;SPOP,non_coding_transcript_exon_variant,,ENST00000507551,;SPOP,non_coding_transcript_exon_variant,,ENST00000577134,;SPOP,non_coding_transcript_exon_variant,,ENST00000572686,;	1538	100	127	SUCCESS
EPN3	55040	.	GRCh37	17	48617654	48617654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142210765	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	50	0	ENST00000268933.3:c.938C>T	p.Pro313Leu	p.P313L	ENST00000268933	NM_017957.2	313	cCg/cTg	0	T:0.0005	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS11570.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCGCCCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12276:SF16,hmmpanther:PTHR12276	T:0.001	T:0	ENSP00000268933	T:0	6/10	.	.	.	.	.	.	.	.	rs142210765	6/10	nonpreferredpair	ENST00000268933	Transcript	.	T:0.0002	ENSG00000049283	18235	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	T:0	tolerated(0.16)	.	EPN3_HUMAN	EPN3	HGNC	D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN	.	UPI0000073234	SNV	EPN3,missense_variant,p.Pro341Leu,ENST00000537145,;EPN3,missense_variant,p.Pro313Leu,ENST00000268933,;EPN3,intron_variant,,ENST00000541226,;EPN3,downstream_gene_variant,,ENST00000507709,;EPN3,downstream_gene_variant,,ENST00000515126,;EPN3,downstream_gene_variant,,ENST00000507467,;EPN3,downstream_gene_variant,,ENST00000514874,;EPN3,downstream_gene_variant,,ENST00000503246,;EPN3,downstream_gene_variant,,ENST00000503690,;RP11-94C24.8,upstream_gene_variant,,ENST00000513017,;EPN3,downstream_gene_variant,,ENST00000571402,;EPN3,downstream_gene_variant,,ENST00000511414,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000507998,;EPN3,3_prime_UTR_variant,,ENST00000512379,;EPN3,3_prime_UTR_variant,,ENST00000574464,;EPN3,intron_variant,,ENST00000510045,;EPN3,intron_variant,,ENST00000512291,;RP11-94C24.8,upstream_gene_variant,,ENST00000509260,;SPATA20,upstream_gene_variant,,ENST00000504334,;	1517	50	58	SUCCESS
SLC16A6	9120	.	GRCh37	17	66270184	66270184	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782723811	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	47	0	ENST00000327268.4:c.260G>A	p.Arg87His	p.R87H	ENST00000327268	NM_001174166.1	87	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11675.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAACGATTG	NONE	byFrequency	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360:SF20,hmmpanther:PTHR11360,PROSITE_profiles:PS50850	.	.	ENSP00000319991	.	4/7	.	.	.	.	.	.	.	.	rs782723811	4/7	nonpreferredpair	ENST00000327268	Transcript	.	.	ENSG00000108932	10927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.07)	.	MOT7_HUMAN	SLC16A6	HGNC	J3KS02_HUMAN,A1L174_HUMAN	.	UPI00001AA3B9	SNV	SLC16A6,missense_variant,p.Arg87His,ENST00000580666,;SLC16A6,missense_variant,p.Arg87His,ENST00000327268,;SLC16A6,intron_variant,,ENST00000583477,;ARSG,intron_variant,,ENST00000448504,;SLC16A6,downstream_gene_variant,,ENST00000582867,;ARSG,non_coding_transcript_exon_variant,,ENST00000578726,;	425	47	50	SUCCESS
FBF1	85302	.	GRCh37	17	73915917	73915917	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764601669	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	114	0	ENST00000586717.1:c.1928G>T	p.Arg643Leu	p.R643L	ENST00000586717		643	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS45779.1	1925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCGTTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000324292	.	19/29	.	.	.	.	.	.	.	.	rs764601669	19/29	nonpreferredpair	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,missense_variant,p.Arg642Leu,ENST00000319129,;FBF1,missense_variant,p.Arg657Leu,ENST00000592193,;FBF1,missense_variant,p.Arg643Leu,ENST00000389570,;FBF1,missense_variant,p.Arg643Leu,ENST00000586717,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;FBF1,downstream_gene_variant,,ENST00000586838,;FBF1,upstream_gene_variant,,ENST00000593076,;	2199	114	124	SUCCESS
TMC6	11322	.	GRCh37	17	76120679	76120679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	47	0	ENST00000322914.3:c.817C>A	p.Pro273Thr	p.P273T	ENST00000322914	NM_007267.6	273	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32748.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGGCCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	.	.	ENSP00000465261	.	8/20	.	.	.	.	.	.	.	.	.	8/20	nonpreferredpair	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.3)	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,missense_variant,p.Pro273Thr,ENST00000322914,;TMC6,missense_variant,p.Pro273Thr,ENST00000306591,;TMC6,missense_variant,p.Pro273Thr,ENST00000392467,;TMC6,missense_variant,p.Pro273Thr,ENST00000590602,;TMC6,missense_variant,p.Pro46Thr,ENST00000589553,;TMC6,missense_variant,p.Pro273Thr,ENST00000589271,;TMC6,5_prime_UTR_variant,,ENST00000322933,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,downstream_gene_variant,,ENST00000592594,;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,upstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000586126,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,upstream_gene_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000588792,;	977	47	44	SUCCESS
FASN	2194	.	GRCh37	17	80047248	80047248	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	77	0	ENST00000306749.2:c.1978G>T	p.Glu660Ter	p.E660*	ENST00000306749	NM_004104.4	660	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11801.1	1978	RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCAAACA	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00698,Gene3D:3.30.70.250,SMART_domains:SM00827,Superfamily_domains:SSF55048	.	.	ENSP00000304592	.	13/43	.	.	.	.	.	.	.	.	.	13/43	nonpreferredpair	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,stop_gained,p.Glu660Ter,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579410,;	2197	77	107	SUCCESS
ZSCAN30	100101467	.	GRCh37	18	32843982	32843982	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368624179	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	265	14	225	0	ENST00000333206.5:c.335G>A	p.Arg112Gln	p.R112Q	ENST00000333206	NM_001112734.2	112	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS42427.1	335	MUTECT|MUSE	.	CTGGCCGATGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF47,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	T:0.0001	ENSP00000392371	.	3/5	.	.	.	.	.	.	.	.	rs368624179	3/5	nonpreferredpair	ENST00000420878	Transcript	.	.	ENSG00000186814	33517	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.72)	.	ZSC30_HUMAN	ZSCAN30	HGNC	K7ERA9_HUMAN,K7EPB0_HUMAN	.	UPI00001867D6	SNV	ZSCAN30,missense_variant,p.Arg10Gln,ENST00000588448,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000592278,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000420878,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000383091,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000589178,;ZSCAN30,missense_variant,p.Arg112Gln,ENST00000333206,;ZSCAN30,intron_variant,,ENST00000601405,;ZNF397,downstream_gene_variant,,ENST00000355632,;ZSCAN30,downstream_gene_variant,,ENST00000592598,;ZSCAN30,downstream_gene_variant,,ENST00000592211,;ZNF397,intron_variant,,ENST00000589420,;	791	225	279	SUCCESS
MYO5B	4645	.	GRCh37	18	47500944	47500944	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	46	107	0	ENST00000285039.7:c.1098G>A	p.Gly366=	p.G366=	ENST00000285039	NM_001080467.2	366	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42436.1	1098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCCCTAG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000285039	.	10/40	.	.	.	.	.	.	.	.	.	10/40	nonpreferredpair	ENST00000285039	Transcript	.	.	ENSG00000167306	7603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO5B_HUMAN	MYO5B	HGNC	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN	.	UPI00001D7B21	SNV	MYO5B,synonymous_variant,p.%3D,ENST00000285039,;RP11-813F20.4,upstream_gene_variant,,ENST00000591362,;	1398	107	120	SUCCESS
ZNF69	7620	.	GRCh37	19	12014498	12014498	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763643376	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	269	363	307	0	ENST00000429654.2:c.174G>C	p.Arg58Ser	p.R58S	ENST00000429654		58	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS32914.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGAACCT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000345333	.	2/5	.	.	.	.	.	.	.	.	rs763643376	2/5	nonpreferredpair	ENST00000340180	Transcript	.	.	ENSG00000198429	13138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.267)	.	deleterious(0.01)	.	ZNF69_HUMAN	ZNF69	HGNC	.	.	UPI00001969B3	SNV	ZNF69,missense_variant,p.Arg44Ser,ENST00000340180,;ZNF69,missense_variant,p.Arg58Ser,ENST00000429654,;ZNF69,missense_variant,p.Arg44Ser,ENST00000445911,;	201	307	633	SUCCESS
CRLF1	9244	.	GRCh37	19	18709391	18709391	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	34	77	0	ENST00000392386.3:c.548C>T	p.Thr183Ile	p.T183I	ENST00000392386	NM_004750.4	183	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS32962.1	548	RADIA|MUTECT|MUSE|VARSCANS	.	CACATGTGTTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,Pfam_domain:PF09067,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376188	.	4/9	.	.	.	.	.	.	.	.	.	4/9	nonpreferredpair	ENST00000392386	Transcript	1	.	ENSG00000006016	2364	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.926)	.	tolerated(0.17)	.	CRLF1_HUMAN	CRLF1	HGNC	.	.	UPI000000DA9E	SNV	CRLF1,missense_variant,p.Thr5Ile,ENST00000597131,;CRLF1,missense_variant,p.Thr183Ile,ENST00000392386,;CRLF1,upstream_gene_variant,,ENST00000594325,;CRLF1,downstream_gene_variant,,ENST00000593286,;CRLF1,upstream_gene_variant,,ENST00000596360,;	742	77	147	SUCCESS
ZNF253	56242	.	GRCh37	19	20003414	20003414	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	25	135	0	ENST00000589717.1:c.1358A>G	p.Lys453Arg	p.K453R	ENST00000589717	NM_021047.2	453	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS42532.1	1358	MUTECT|MUSE|VARSCANS	.	TTACAAATGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000468720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.054)	.	deleterious(0.04)	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,missense_variant,p.Lys377Arg,ENST00000355650,;ZNF253,missense_variant,p.Lys453Arg,ENST00000589717,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,intron_variant,,ENST00000585571,;	1450	135	286	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36278140	36278140	+	synonymous_variant	Silent	SNP	G	G	A	rs200811520	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	66	0	ENST00000314737.5:c.2190G>A	p.Pro730=	p.P730=	ENST00000314737	NM_052948.3	730	ccG/ccA	0	A:0	A:0	.	A:0.0014	.	A	P	protein_coding	YES	CCDS12477.1	2190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCCCCC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	A:0.001	A:0.0001	ENSP00000320038	A:0.001	21/21	.	.	.	.	.	.	.	.	rs200811520,rs770422275,COSM3796979,COSM3796980	21/21	nonpreferredpair	ENST00000314737	Transcript	.	A:0.0006	ENSG00000004777	23085	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,0,1,1	.	.	.	A:0	.	0,0,1,1	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,synonymous_variant,p.%3D,ENST00000007510,;ARHGAP33,synonymous_variant,p.%3D,ENST00000378944,;ARHGAP33,synonymous_variant,p.%3D,ENST00000587447,;ARHGAP33,synonymous_variant,p.%3D,ENST00000314737,;ARHGAP33,synonymous_variant,p.%3D,ENST00000588248,;AC002398.5,downstream_gene_variant,,ENST00000564335,;AC002398.5,downstream_gene_variant,,ENST00000433059,;AC002398.5,downstream_gene_variant,,ENST00000567313,;ARHGAP33,downstream_gene_variant,,ENST00000591438,;ARHGAP33,downstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000601474,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;	2274	66	61	SUCCESS
AC016582.2	0	.	GRCh37	19	38314619	38314619	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	9	0	ENST00000592640.1:n.1459G>A		p.*487*	ENST00000592640				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACACTTGGG	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000592640	Transcript	.	.	ENSG00000225868	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC016582.2	Clone_based_vega_gene	.	.	.	SNV	AC016582.2,non_coding_transcript_exon_variant,,ENST00000592640,;CTD-2554C21.2,intron_variant,,ENST00000592103,;CTD-2554C21.2,intron_variant,,ENST00000590433,;CTD-2554C21.2,intron_variant,,ENST00000586819,;CTD-2554C21.2,intron_variant,,ENST00000587248,;CTD-2554C21.2,downstream_gene_variant,,ENST00000589653,;	1459	9	26	SUCCESS
HNRNPL	3191	.	GRCh37	19	39329152	39329152	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	106	211	0	ENST00000221419.5:c.1442G>A	p.Arg481Gln	p.R481Q	ENST00000221419	NM_001533.2	481	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33015.1	1442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCGGGAT	NONE	.	.	hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF19,TIGRFAM_domain:TIGR01649,Gene3D:3.30.70.330	.	.	ENSP00000221419	.	10/13	.	.	.	.	.	.	.	.	.	10/13	nonpreferredpair	ENST00000221419	Transcript	.	.	ENSG00000104824	5045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	HNRPL_HUMAN	HNRNPL	HGNC	Q6NTA2_HUMAN	.	UPI00004432FA	SNV	HNRNPL,missense_variant,p.Arg348Gln,ENST00000600873,;HNRNPL,missense_variant,p.Arg422Gln,ENST00000601449,;HNRNPL,missense_variant,p.Arg481Gln,ENST00000221419,;AC104534.3,missense_variant,p.Arg98Gln,ENST00000594769,;AC104534.3,intron_variant,,ENST00000602021,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595443,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,downstream_gene_variant,,ENST00000601664,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,upstream_gene_variant,,ENST00000595804,;	1809	211	287	SUCCESS
NFKBIB	4793	.	GRCh37	19	39395721	39395721	+	synonymous_variant	Silent	SNP	C	C	A	rs142337920	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	116	185	0	ENST00000313582.5:c.246C>A	p.Ala82=	p.A82=	ENST00000313582	NM_002503.4	82	gcC/gcA	0	T:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS12524.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCCGGCAC	NONE	byCluster	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF30,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	T:0	ENSP00000312988	.	2/6	.	.	.	.	.	.	.	.	rs142337920	2/6	nonpreferredpair	ENST00000313582	Transcript	.	.	ENSG00000104825	7798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKBB_HUMAN	NFKBIB	HGNC	I3L4X3_HUMAN	.	UPI000006FFE4	SNV	NFKBIB,synonymous_variant,p.%3D,ENST00000313582,;NFKBIB,synonymous_variant,p.%3D,ENST00000572515,;NFKBIB,synonymous_variant,p.%3D,ENST00000575359,;NFKBIB,synonymous_variant,p.%3D,ENST00000392079,;NFKBIB,5_prime_UTR_variant,,ENST00000576510,;CCER2,downstream_gene_variant,,ENST00000571838,;CCER2,downstream_gene_variant,,ENST00000571845,;NFKBIB,synonymous_variant,p.%3D,ENST00000509705,;	280	185	289	SUCCESS
SH3GL1	6455	.	GRCh37	19	4361758	4361758	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs767494738	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	36	39	0	ENST00000269886.3:c.946G>C	p.Asp316His	p.D316H	ENST00000269886	NM_003025.3	316	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS32874.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCGTACA	NONE	.	.	Prints_domain:PR00499,Prints_domain:PR00452,Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF00018,hmmpanther:PTHR10661:SF125,hmmpanther:PTHR10661,PROSITE_profiles:PS50002	.	.	ENSP00000269886	.	10/10	.	.	.	.	.	.	.	.	rs767494738	10/10	nonpreferredpair	ENST00000269886	Transcript	.	.	ENSG00000141985	10830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SH3G1_HUMAN	SH3GL1	HGNC	Q9BWP4_HUMAN,Q9BVL7_HUMAN,Q6FGM0_HUMAN,M0R2K6_HUMAN,M0R0I3_HUMAN,M0QYE0_HUMAN	.	UPI0000135931	SNV	SH3GL1,missense_variant,p.Asp268His,ENST00000417295,;SH3GL1,missense_variant,p.Asp252His,ENST00000598564,;SH3GL1,missense_variant,p.Asp316His,ENST00000269886,;MPND,downstream_gene_variant,,ENST00000597036,;MPND,downstream_gene_variant,,ENST00000262966,;MPND,downstream_gene_variant,,ENST00000359935,;MPND,downstream_gene_variant,,ENST00000594162,;MPND,downstream_gene_variant,,ENST00000599840,;SH3GL1,downstream_gene_variant,,ENST00000598230,;MPND,downstream_gene_variant,,ENST00000596722,;SH3GL1,downstream_gene_variant,,ENST00000598219,;SH3GL1,downstream_gene_variant,,ENST00000593591,;AC007292.6,upstream_gene_variant,,ENST00000594444,;AC007292.3,upstream_gene_variant,,ENST00000593524,;MPND,downstream_gene_variant,,ENST00000594716,;	1125	39	44	SUCCESS
ZNF578	147660	.	GRCh37	19	53008031	53008031	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	43	71	0	ENST00000421239.2:c.187G>A	p.Val63Met	p.V63M	ENST00000421239	NM_001099694.1	63	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54310.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGTGGGT	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50805	.	.	ENSP00000459216	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0)	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Val63Met,ENST00000421239,;ZNF578,missense_variant,p.Val63Met,ENST00000601120,;	431	71	92	SUCCESS
MUC16	94025	.	GRCh37	19	9047545	9047545	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	256	19	429	0	ENST00000397910.4:c.34086C>A	p.Pro11362=	p.P11362=	ENST00000397910	NM_024690.2	11362	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54212.1	34086	MUTECT|MUSE	.	GTCCTGGGAAC	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	nonpreferredpair	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	34290	429	276	SUCCESS
MUC16	94025	.	GRCh37	19	9074278	9074278	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs769603117	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	314	32	488	0	ENST00000397910.4:c.13168C>T	p.Gln4390Ter	p.Q4390*	ENST00000397910	NM_024690.2	4390	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS54212.1	13168	MUTECT|MUSE|VARSCANS	.	TGTTTGGGTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs769603117	3/84	nonpreferredpair	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Gln4390Ter,ENST00000397910,;	13372	488	346	SUCCESS
OR7E24	26648	.	GRCh37	19	9362317	9362317	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	231	16	300	0	ENST00000456448.1:c.598T>C	p.Ser200Pro	p.S200P	ENST00000456448	NM_001079935.1	200	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS45955.1	598	MUTECT|MUSE	.	ACCCTTCTCAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000387523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000456448	Transcript	.	.	ENSG00000237521	8396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	tolerated(0.24)	.	O7E24_HUMAN	OR7E24	HGNC	O43789_HUMAN	.	UPI00003B2886	SNV	OR7E24,missense_variant,p.Ser200Pro,ENST00000456448,;	712	300	247	SUCCESS
VAV3	10451	.	GRCh37	1	108315394	108315394	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	13	150	0	ENST00000370056.4:c.518A>C	p.Tyr173Ser	p.Y173S	ENST00000370056	NM_006113.4	173	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS785.1	518	MUTECT|MUSE|VARSCANS	.	CCTCATAGACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Superfamily_domains:SSF47576	.	.	ENSP00000359073	.	5/27	.	.	.	.	.	.	.	.	.	5/27	nonpreferredpair	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Tyr168Ser,ENST00000490388,;VAV3,missense_variant,p.Tyr108Ser,ENST00000371846,;VAV3,missense_variant,p.Tyr173Ser,ENST00000370056,;VAV3,missense_variant,p.Tyr173Ser,ENST00000527011,;AL591042.1,downstream_gene_variant,,ENST00000579317,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000524574,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000530671,;	793	150	149	SUCCESS
PTCHD2	0	.	GRCh37	1	11562021	11562021	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	93	0	ENST00000294484.6:c.972T>G	p.Asp324Glu	p.D324E	ENST00000294484	NM_020780.1	324	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS41247.1	972	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGATCTGCC	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	2/21	.	.	.	.	.	.	.	.	.	2/21	nonpreferredpair	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Asp324Glu,ENST00000389575,;PTCHD2,missense_variant,p.Asp324Glu,ENST00000294484,;	1110	93	71	SUCCESS
GDAP2	54834	.	GRCh37	1	118454654	118454654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763963913	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	245	335	0	ENST00000369443.5:c.521G>A	p.Arg174His	p.R174H	ENST00000369443	NM_017686.3	174	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS897.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACGTTTT	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF59,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000358451	.	5/14	.	.	.	.	.	.	.	.	rs763963913,COSM1208045	5/14	nonpreferredpair	ENST00000369443	Transcript	.	.	ENSG00000196505	18010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.768)	.	deleterious(0)	0,1	GDAP2_HUMAN	GDAP2	HGNC	.	.	UPI0000071019	SNV	GDAP2,missense_variant,p.Arg174His,ENST00000369442,;GDAP2,missense_variant,p.Arg174His,ENST00000369443,;GDAP2,non_coding_transcript_exon_variant,,ENST00000493555,;GDAP2,downstream_gene_variant,,ENST00000494224,;	771	335	319	SUCCESS
PPIAL4A	653505	.	GRCh37	1	147955311	147955311	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs587649576	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	255	289	612	0	ENST00000539781.1:c.34G>A	p.Val12Ile	p.V12I	ENST00000539781	NM_178230.1	12	Gtc/Atc	0	.	T:0.0484	.	T:0.0029	.	T	V/I	protein_coding	YES	CCDS30835.1	34	RADIA|SOMATICSNIPER|VARSCANS	.	GTCGACGGTGA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF237,Pfam_domain:PF00160,Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,Superfamily_domains:SSF50891	T:0	.	ENSP00000439146	T:0	1/1	.	.	.	.	.	.	.	.	rs587649576	1/1	nonpreferredpair	ENST00000539781	Transcript	.	T:0.0132	ENSG00000255963	24369	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	T:0	tolerated_low_confidence(0.49)	.	PAL4A_HUMAN	PPIAL4A	HGNC	.	.	UPI000006E1D4	SNV	PPIAL4A,missense_variant,p.Val12Ile,ENST00000539781,;	109	612	544	SUCCESS
TMEM79	84283	.	GRCh37	1	156255314	156255314	+	synonymous_variant	Silent	SNP	A	A	T	rs553983602	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	44	77	0	ENST00000295694.5:c.297A>T	p.Pro99=	p.P99=	ENST00000295694		99	ccA/ccT	0	.	G:0.0008	.	G:0	.	T	P	protein_coding	YES	CCDS1138.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCAGAGCC	NONE	by1000G	.	hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	G:0	.	ENSP00000384748	G:0	2/4	.	.	.	.	.	.	.	.	rs553983602	2/4	nonpreferredpair	ENST00000405535	Transcript	.	G:0.0002	ENSG00000163472	28196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,synonymous_variant,p.%3D,ENST00000405535,;TMEM79,synonymous_variant,p.%3D,ENST00000295694,;TMEM79,intron_variant,,ENST00000456810,;TMEM79,intron_variant,,ENST00000357501,;SMG5,upstream_gene_variant,,ENST00000368267,;SMG5,upstream_gene_variant,,ENST00000361813,;TMEM79,splice_acceptor_variant,,ENST00000463670,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;C1orf85,downstream_gene_variant,,ENST00000497831,;TMEM79,upstream_gene_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000461597,;	468	77	161	SUCCESS
FCRL3	115352	.	GRCh37	1	157670351	157670351	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	53	78	0	ENST00000368184.3:c.-72G>A		p.*24*	ENST00000368184	NM_052939.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1167.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCAGGAA	NONE	.	.	.	.	.	ENSP00000357167	.	2/15	.	.	.	.	.	.	.	.	.	2/15	nonpreferredpair	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,5_prime_UTR_variant,,ENST00000368186,;FCRL3,5_prime_UTR_variant,,ENST00000496769,;FCRL3,5_prime_UTR_variant,,ENST00000368184,;RP11-367J7.3,downstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,upstream_gene_variant,,ENST00000473231,;FCRL3,upstream_gene_variant,,ENST00000478179,;FCRL3,5_prime_UTR_variant,,ENST00000485028,;FCRL3,5_prime_UTR_variant,,ENST00000477837,;FCRL3,5_prime_UTR_variant,,ENST00000492769,;	221	78	177	SUCCESS
KIRREL	0	.	GRCh37	1	158059385	158059385	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1324098236	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	40	101	0	ENST00000359209.6:c.1138G>A	p.Val380Met	p.V380M	ENST00000359209		380	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1172.2	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGAGTGGCT	NONE	.	.	hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	9/15	.	.	.	.	.	.	.	.	.	9/15	nonpreferredpair	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Val216Met,ENST00000360089,;KIRREL,missense_variant,p.Val396Met,ENST00000368173,;KIRREL,missense_variant,p.Val194Met,ENST00000368172,;KIRREL,missense_variant,p.Val280Met,ENST00000416935,;KIRREL,missense_variant,p.Val380Met,ENST00000359209,;KIRREL,missense_variant,p.Val277Met,ENST00000392272,;	1205	101	152	SUCCESS
OR10T2	128360	.	GRCh37	1	158369189	158369189	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	14	103	0	ENST00000334438.1:c.68A>G	p.Glu23Gly	p.E23G	ENST00000334438	NM_001004475.1	23	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS30895.1	68	MUTECT|MUSE|VARSCANS	.	GGAGCTCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR26451:SF98,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334115	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000334438	Transcript	.	.	ENSG00000186306	14816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.05)	.	tolerated(0.11)	.	O10T2_HUMAN	OR10T2	HGNC	.	.	UPI000003F220	SNV	OR10T2,missense_variant,p.Glu23Gly,ENST00000334438,;	68	103	157	SUCCESS
DNM3	26052	.	GRCh37	1	172100413	172100413	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	77	114	0	ENST00000355305.5:c.1674G>C	p.Trp558Cys	p.W558C	ENST00000355305		558	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS53431.1	1644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTATAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR11566:SF54,hmmpanther:PTHR11566,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000350876	.	14/21	.	.	.	.	.	.	.	.	.	14/21	nonpreferredpair	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Trp548Cys,ENST00000367731,;DNM3,missense_variant,p.Trp558Cys,ENST00000355305,;DNM3,missense_variant,p.Trp548Cys,ENST00000358155,;DNM3,missense_variant,p.Trp548Cys,ENST00000367733,;DNM3,missense_variant,p.Trp438Cys,ENST00000523513,;DNM3,missense_variant,p.Trp548Cys,ENST00000520906,;	1820	114	217	SUCCESS
LAMC1	3915	.	GRCh37	1	183085929	183085929	+	synonymous_variant	Silent	SNP	A	A	G	rs781326806	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	399	136	299	0	ENST00000258341.4:c.1455A>G	p.Glu485=	p.E485=	ENST00000258341	NM_002293.3	485	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1351.1	1455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAATCATC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000258341	.	8/28	.	.	.	.	.	.	.	.	rs781326806	8/28	nonpreferredpair	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,synonymous_variant,p.%3D,ENST00000258341,;LAMC1,non_coding_transcript_exon_variant,,ENST00000479499,;	1712	299	536	SUCCESS
PTGS2	5743	.	GRCh37	1	186648333	186648333	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs764607381	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	487	34	270	0	ENST00000367468.5:c.170C>T	p.Pro57Leu	p.P57L	ENST00000367468	NM_000963.2	57	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1371.1	170	MUTECT|MUSE	.	ATTCCGCTGCA	NONE	.	.	hmmpanther:PTHR11903:SF8,hmmpanther:PTHR11903	.	.	ENSP00000356438	.	3/10	.	.	.	.	.	.	.	.	rs764607381	3/10	nonpreferredpair	ENST00000367468	Transcript	.	.	ENSG00000073756	9605	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	PGH2_HUMAN	PTGS2	HGNC	D9MWI3_HUMAN	.	UPI000000D926	SNV	PTGS2,missense_variant,p.Pro57Leu,ENST00000367468,;RP5-973M2.2,upstream_gene_variant,,ENST00000608917,;PTGS2,splice_region_variant,,ENST00000490885,;PTGS2,splice_region_variant,,ENST00000559800,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,missense_variant,p.Pro57Leu,ENST00000559627,;	307	270	521	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186948491	186948491	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	371	193	360	1	ENST00000367466.3:c.2005G>T	p.Asp669Tyr	p.D669Y	ENST00000367466	NM_024420.2	669	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1372.1	2005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTGATATT	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	17/18	.	.	.	.	.	.	.	.	.	17/18	nonpreferredpair	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Asp609Tyr,ENST00000442353,;PLA2G4A,missense_variant,p.Asp669Tyr,ENST00000367466,;	2157	361	564	SUCCESS
ARL8A	127829	.	GRCh37	1	202104642	202104642	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	36	97	0	ENST00000272217.2:c.385G>C	p.Gly129Arg	p.G129R	ENST00000272217	NM_001256129.1	129	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS1421.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACCCAGGA	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF122,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00178,SMART_domains:SM00175,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000272217	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000272217	Transcript	.	.	ENSG00000143862	25192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARL8A_HUMAN	ARL8A	HGNC	.	.	UPI00000372D3	SNV	ARL8A,missense_variant,p.Gly129Arg,ENST00000272217,;GPR37L1,downstream_gene_variant,,ENST00000367282,;ARL8A,non_coding_transcript_exon_variant,,ENST00000491358,;ARL8A,non_coding_transcript_exon_variant,,ENST00000486225,;	554	97	142	SUCCESS
RYR2	6262	.	GRCh37	1	237905615	237905615	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	57	131	0	ENST00000366574.2:c.11111A>T	p.Asp3704Val	p.D3704V	ENST00000366574	NM_001035.2	3704	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS55691.1	11111	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGATGACG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	80/105	.	.	.	.	.	.	.	.	.	80/105	nonpreferredpair	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Asp3688Val,ENST00000542537,;RYR2,missense_variant,p.Asp3704Val,ENST00000366574,;RYR2,missense_variant,p.Asp3702Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	11428	131	289	SUCCESS
AHCTF1	25909	.	GRCh37	1	247024552	247024553	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	793	228	396	0	ENST00000326225.3:c.3807dup	p.Cys1270MetfsTer8	p.C1270Mfs*8	ENST00000326225	NM_015446.4	1269	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS1629.2	3807-3808	VARSCANI*|PINDEL	.	TGCACATTTTT	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	29/36	.	.	.	.	.	.	.	.	.	29/36	nonpreferredpair	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	insertion	AHCTF1,frameshift_variant,p.Cys1261MetfsTer8,ENST00000391829,;AHCTF1,frameshift_variant,p.Cys1296MetfsTer8,ENST00000366508,;AHCTF1,frameshift_variant,p.Cys1270MetfsTer8,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;	3904-3905	396	1021	SUCCESS
PGBD2	267002	.	GRCh37	1	249211815	249211815	+	synonymous_variant	Silent	SNP	G	G	A	rs769954494	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	272	81	186	0	ENST00000329291.5:c.1032G>A	p.Leu344=	p.L344=	ENST00000329291	NM_170725.2	344	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31128.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGCCATA	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000331643	.	3/3	.	.	.	.	.	.	.	.	rs769954494	3/3	nonpreferredpair	ENST00000329291	Transcript	.	.	ENSG00000185220	19399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBD2_HUMAN	PGBD2	HGNC	.	.	UPI000016196D	SNV	PGBD2,synonymous_variant,p.%3D,ENST00000539153,;PGBD2,synonymous_variant,p.%3D,ENST00000329291,;PGBD2,synonymous_variant,p.%3D,ENST00000355360,;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,downstream_gene_variant,,ENST00000462488,;	1179	186	354	SUCCESS
MACF1	23499	.	GRCh37	1	39798959	39798959	+	synonymous_variant	Silent	SNP	A	A	T	rs771626175	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	153	194	0	ENST00000372915.3:c.6714A>T	p.Thr2238=	p.T2238=	ENST00000372915		2238	acA/acT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATTTCT	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	rs771626175	.	nonpreferredpair	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	.	194	188	SUCCESS
TMEM53	79639	.	GRCh37	1	45120780	45120780	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	50	101	0	ENST00000372237.3:c.285G>T	p.Glu95Asp	p.E95D	ENST00000372237	NM_024587.2	95	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS511.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCTCGAG	NONE	.	.	hmmpanther:PTHR12265:SF0,hmmpanther:PTHR12265,Gene3D:3.40.50.1820,Pfam_domain:PF05705,Superfamily_domains:SSF53474	.	.	ENSP00000361311	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000372237	Transcript	.	.	ENSG00000126106	26186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.09)	.	TMM53_HUMAN	TMEM53	HGNC	B4DI10_HUMAN	.	UPI000013E157	SNV	TMEM53,missense_variant,p.Glu65Asp,ENST00000372235,;TMEM53,missense_variant,p.Glu95Asp,ENST00000372237,;TMEM53,missense_variant,p.Glu95Asp,ENST00000372242,;TMEM53,missense_variant,p.Glu64Asp,ENST00000420706,;TMEM53,intron_variant,,ENST00000372244,;TMEM53,intron_variant,,ENST00000372243,;RNF220,downstream_gene_variant,,ENST00000361799,;RNF220,downstream_gene_variant,,ENST00000443020,;RNF220,downstream_gene_variant,,ENST00000355387,;RNF220,downstream_gene_variant,,ENST00000372247,;TMEM53,non_coding_transcript_exon_variant,,ENST00000476724,;TMEM53,non_coding_transcript_exon_variant,,ENST00000468117,;TMEM53,intron_variant,,ENST00000495630,;RNF220,downstream_gene_variant,,ENST00000474394,;RNF220,downstream_gene_variant,,ENST00000474956,;RNF220,downstream_gene_variant,,ENST00000484745,;RNF220,downstream_gene_variant,,ENST00000480686,;RNF220,downstream_gene_variant,,ENST00000475378,;RNF220,downstream_gene_variant,,ENST00000474064,;	449	101	61	SUCCESS
INADL	0	.	GRCh37	1	62237159	62237159	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	593	71	750	0	ENST00000371158.2:c.581A>T	p.Asp194Val	p.D194V	ENST00000371158	NM_176877.2	194	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS617.2	581	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGATCAGA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000360200	.	6/43	.	.	.	.	.	.	.	.	.	6/43	nonpreferredpair	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Asp194Val,ENST00000316485,;INADL,missense_variant,p.Asp194Val,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	695	750	664	SUCCESS
SLC2A5	6518	.	GRCh37	1	9097670	9097670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	11	107	0	ENST00000377424.4:c.1481T>C	p.Leu494Pro	p.L494P	ENST00000377424	NM_003039.2	494	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS99.1	1481	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAAGCTCT	BUFFER|p.P496T|c.1486C>A|13	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24063:SF309,hmmpanther:PTHR24063	.	.	ENSP00000366641	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000377424	Transcript	.	.	ENSG00000142583	11010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.087)	.	tolerated(0.18)	.	GTR5_HUMAN	SLC2A5	HGNC	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN	.	UPI00000532AC	SNV	SLC2A5,missense_variant,p.Leu494Pro,ENST00000377424,;SLC2A5,missense_variant,p.Leu435Pro,ENST00000536305,;SLC2A5,missense_variant,p.Leu379Pro,ENST00000535586,;SLC2A5,downstream_gene_variant,,ENST00000487835,;SLC2A5,downstream_gene_variant,,ENST00000484798,;SLC2A5,downstream_gene_variant,,ENST00000377414,;SLC2A5,downstream_gene_variant,,ENST00000479813,;SLC2A5,downstream_gene_variant,,ENST00000474145,;SLC2A5,downstream_gene_variant,,ENST00000486632,;SLC2A5,downstream_gene_variant,,ENST00000487492,;	1661	107	114	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3673312	3673312	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760676443	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	37	0	ENST00000344754.4:c.3886C>T	p.His1296Tyr	p.H1296Y	ENST00000344754	NM_023068.3	1296	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS13060.1	3886	MUTECT|VARSCANS	.	GTTGTGGTACC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	15/21	.	.	.	.	.	.	.	.	rs760676443,COSM3911247,COSM3911248	15/21	nonpreferredpair	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.139)	.	tolerated(0.06)	0,1,1	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.His1296Tyr,ENST00000344754,;SIGLEC1,missense_variant,p.His110Tyr,ENST00000419548,;SIGLEC1,missense_variant,p.His1296Tyr,ENST00000202578,;	3886	37	53	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3673732	3673732	+	synonymous_variant	Silent	SNP	G	G	A	rs144602570	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	24	0	ENST00000344754.4:c.3555C>T	p.Gly1185=	p.G1185=	ENST00000344754	NM_023068.3	1185	ggC/ggT	0	A:0.0005	A:0.0023	.	A:0	.	A	G	protein_coding	YES	CCDS13060.1	3555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGCCATG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,SMART_domains:SM00409,SMART_domains:SM00408	A:0	A:0	ENSP00000341141	A:0	14/21	.	.	.	.	.	.	.	.	rs144602570	14/21	nonpreferredpair	ENST00000344754	Transcript	.	A:0.0006	ENSG00000088827	11127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,synonymous_variant,p.%3D,ENST00000344754,;SIGLEC1,synonymous_variant,p.%3D,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	3555	24	53	SUCCESS
CHD6	84181	.	GRCh37	20	40049753	40049753	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs140430642	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	49	128	0	ENST00000373233.3:c.5522A>T	p.Asp1841Val	p.D1841V	ENST00000373233	NM_032221.4	1841	gAt/gTt	0	C:0	C:0	.	C:0	.	A	D/V	protein_coding	YES	CCDS13317.1	5522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGATCTGAT	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0.0003	ENSP00000362330	C:0.001	31/37	.	.	.	.	.	.	.	.	rs140430642	31/37	nonpreferredpair	ENST00000373233	Transcript	.	C:0.0004	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.302)	C:0.001	deleterious_low_confidence(0)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Asp1841Val,ENST00000373233,;	5700	128	83	SUCCESS
SYCP2	10388	.	GRCh37	20	58467323	58467323	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	334	303	432	0	ENST00000357552.3:c.2086C>T	p.Gln696Ter	p.Q696*	ENST00000357552		696	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS13482.1	2086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTGCTGAT	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	24/45	.	.	.	.	.	.	.	.	.	24/45	nonpreferredpair	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,stop_gained,p.Gln696Ter,ENST00000446834,;SYCP2,stop_gained,p.Gln696Ter,ENST00000357552,;SYCP2,stop_gained,p.Gln696Ter,ENST00000371001,;	2312	432	637	SUCCESS
UCKL1	54963	.	GRCh37	20	62577849	62577849	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	88	0	ENST00000354216.6:c.261G>A	p.Trp87Ter	p.W87*	ENST00000354216	NM_017859.3	87	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS13547.1	261	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACCAGGG	NONE	.	.	hmmpanther:PTHR10285:SF64,hmmpanther:PTHR10285,Superfamily_domains:SSF52540	.	.	ENSP00000346155	.	2/15	.	.	.	.	.	.	.	.	.	2/15	nonpreferredpair	ENST00000354216	Transcript	.	.	ENSG00000198276	15938	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UCKL1_HUMAN	UCKL1	HGNC	Q5JWV1_HUMAN	.	UPI000004A08C	SNV	UCKL1,stop_gained,p.Trp87Ter,ENST00000358711,;UCKL1,stop_gained,p.Trp72Ter,ENST00000369908,;UCKL1,stop_gained,p.Trp87Ter,ENST00000354216,;UCKL1,stop_gained,p.Trp87Ter,ENST00000369892,;UCKL1,upstream_gene_variant,,ENST00000430743,;MIR1914,upstream_gene_variant,,ENST00000607800,;MIR647,upstream_gene_variant,,ENST00000384823,;UCKL1,non_coding_transcript_exon_variant,,ENST00000492660,;UCKL1,non_coding_transcript_exon_variant,,ENST00000483710,;	304	88	107	SUCCESS
PAK7	0	.	GRCh37	20	9525047	9525047	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	37	96	0	ENST00000353224.5:c.1838A>T	p.Glu613Val	p.E613V	ENST00000353224	NM_177990.2	613	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13107.1	1838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTCAGGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000367686	.	9/11	.	.	.	.	.	.	.	.	.	9/11	nonpreferredpair	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Glu613Val,ENST00000378423,;PAK7,missense_variant,p.Glu613Val,ENST00000378429,;PAK7,missense_variant,p.Glu613Val,ENST00000353224,;	2385	96	56	SUCCESS
NCAM2	4685	.	GRCh37	21	22664428	22664428	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	408	32	306	0	ENST00000400546.1:c.486G>A	p.Arg162=	p.R162=	ENST00000400546	NM_004540.3	162	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42910.1	486	MUTECT|MUSE	.	GATCGGTTCGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383392	.	5/18	.	.	.	.	.	.	.	.	.	5/18	nonpreferredpair	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,synonymous_variant,p.%3D,ENST00000400546,;NCAM2,synonymous_variant,p.%3D,ENST00000284894,;NCAM2,synonymous_variant,p.%3D,ENST00000535285,;NCAM2,non_coding_transcript_exon_variant,,ENST00000461281,;NCAM2,non_coding_transcript_exon_variant,,ENST00000486367,;	735	306	440	SUCCESS
LTN1	26046	.	GRCh37	21	30354673	30354673	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	77	94	0	ENST00000361371.5:c.594T>C	p.Leu198=	p.L198=	ENST00000361371		198	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33527.2	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATAAGATG	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12389	.	.	ENSP00000373846	.	5/30	.	.	.	.	.	.	.	.	.	5/30	nonpreferredpair	ENST00000389194	Transcript	.	.	ENSG00000198862	13082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTN1_HUMAN	LTN1	HGNC	G1UI34_HUMAN	.	UPI000049DF6C	SNV	LTN1,synonymous_variant,p.%3D,ENST00000361371,;LTN1,synonymous_variant,p.%3D,ENST00000389195,;LTN1,synonymous_variant,p.%3D,ENST00000389194,;LTN1,synonymous_variant,p.%3D,ENST00000483326,;	738	94	161	SUCCESS
SYNJ1	8867	.	GRCh37	21	34067440	34067440	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1341975632	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	93	160	0	ENST00000433931.2:c.749G>A	p.Arg250Gln	p.R250Q	ENST00000433931	NM_003895.3	250	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33539.2	749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCGTTCA	NONE	.	.	Pfam_domain:PF02383,hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200,PROSITE_profiles:PS50275	.	.	ENSP00000409667	.	5/32	.	.	.	.	.	.	.	.	.	5/32	nonpreferredpair	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	SNV	SYNJ1,missense_variant,p.Arg250Gln,ENST00000382499,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000429236,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000382491,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000322229,;SYNJ1,missense_variant,p.Arg250Gln,ENST00000433931,;SYNJ1,missense_variant,p.Arg211Gln,ENST00000357345,;SYNJ1,downstream_gene_variant,,ENST00000456084,;	757	160	278	SUCCESS
SLC37A1	54020	.	GRCh37	21	43962522	43962522	+	synonymous_variant	Silent	SNP	C	C	T	rs141486944	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	31	72	0	ENST00000352133.2:c.495C>T	p.Asn165=	p.N165=	ENST00000352133		165	aaC/aaT	0	T:0.0134	T:0.0159	.	T:0	.	T	N	protein_coding	YES	CCDS13689.1	495	RADIA|MUSE|VARSCANS	.	ATCAACGGGCT	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,PIRSF_domain:PIRSF002808,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF225,PROSITE_profiles:PS50850	T:0	T:0.0001	ENSP00000344648	T:0	7/20	.	.	.	.	.	.	.	.	rs141486944	7/20	common_in_exac,nonpreferredpair	ENST00000352133	Transcript	.	T:0.0042	ENSG00000160190	11024	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	GLPT_HUMAN	SLC37A1	HGNC	.	.	UPI00001AEB81	SNV	SLC37A1,synonymous_variant,p.%3D,ENST00000398341,;SLC37A1,synonymous_variant,p.%3D,ENST00000352133,;SLC37A1,upstream_gene_variant,,ENST00000487951,;	1477	72	151	SUCCESS
SLC25A17	10478	.	GRCh37	22	41173261	41173261	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	64	231	0	ENST00000435456.2:c.568A>G	p.Lys190Glu	p.K190E	ENST00000435456	NM_006358.2	190	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14005.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTTTAAAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF256,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000390722	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000435456	Transcript	.	.	ENSG00000100372	10987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	PM34_HUMAN	SLC25A17	HGNC	.	.	UPI0000049C3A	SNV	SLC25A17,missense_variant,p.Lys108Glu,ENST00000402844,;SLC25A17,missense_variant,p.Lys190Glu,ENST00000435456,;SLC25A17,missense_variant,p.Lys153Glu,ENST00000544408,;SLC25A17,missense_variant,p.Lys117Glu,ENST00000542412,;SLC25A17,non_coding_transcript_exon_variant,,ENST00000491545,;SLC25A17,downstream_gene_variant,,ENST00000478550,;SLC25A17,missense_variant,p.Lys190Glu,ENST00000420970,;SLC25A17,3_prime_UTR_variant,,ENST00000447566,;SLC25A17,3_prime_UTR_variant,,ENST00000263255,;SLC25A17,3_prime_UTR_variant,,ENST00000430221,;SLC25A17,3_prime_UTR_variant,,ENST00000427084,;SLC25A17,3_prime_UTR_variant,,ENST00000458600,;SLC25A17,downstream_gene_variant,,ENST00000434193,;SLC25A17,downstream_gene_variant,,ENST00000412879,;SLC25A17,downstream_gene_variant,,ENST00000443810,;SLC25A17,downstream_gene_variant,,ENST00000449676,;SLC25A17,downstream_gene_variant,,ENST00000426396,;	702	231	174	SUCCESS
EFCAB6	64800	.	GRCh37	22	44112732	44112732	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	280	103	394	0	ENST00000262726.7:c.878del	p.Leu293HisfsTer30	p.L293Hfs*30	ENST00000262726	NM_022785.3	293	cTa/ca	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS14049.1	878	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTGTAGACAA	NONE	.	.	Gene3D:1.10.238.10	.	.	ENSP00000262726	.	9/32	.	.	.	.	.	.	.	.	.	9/32	nonpreferredpair	ENST00000262726	Transcript	.	.	ENSG00000186976	24204	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	deletion	EFCAB6,frameshift_variant,p.Leu293HisfsTer30,ENST00000262726,;EFCAB6,frameshift_variant,p.Leu187HisfsTer30,ENST00000358439,;EFCAB6,frameshift_variant,p.Leu187HisfsTer3,ENST00000356087,;EFCAB6,frameshift_variant,p.Leu141HisfsTer30,ENST00000396231,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	1132	394	383	SUCCESS
PPP6R2	9701	.	GRCh37	22	50876004	50876004	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	102	0	ENST00000216061.5:c.1753G>C	p.Glu585Gln	p.E585Q	ENST00000216061		585	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS56235.1	1675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGGAGTTT	NONE	.	.	hmmpanther:PTHR12634:SF15,hmmpanther:PTHR12634	.	.	ENSP00000379090	.	15/23	.	.	.	.	.	.	.	.	.	15/23	nonpreferredpair	ENST00000395741	Transcript	.	.	ENSG00000100239	19253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	PP6R2_HUMAN	PPP6R2	HGNC	.	.	UPI0000453B02	SNV	PPP6R2,missense_variant,p.Glu559Gln,ENST00000395741,;PPP6R2,missense_variant,p.Glu187Gln,ENST00000427222,;PPP6R2,missense_variant,p.Glu558Gln,ENST00000395744,;PPP6R2,missense_variant,p.Glu558Gln,ENST00000359139,;PPP6R2,missense_variant,p.Glu311Gln,ENST00000401672,;PPP6R2,missense_variant,p.Glu585Gln,ENST00000216061,;PPP6R2,upstream_gene_variant,,ENST00000473283,;	2050	102	78	SUCCESS
MERTK	10461	.	GRCh37	2	112786337	112786337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	65	0	ENST00000295408.4:c.2896G>C	p.Gly966Arg	p.G966R	ENST00000295408		966	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS2094.1	2896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGGGGTC	NONE	.	.	.	.	.	ENSP00000295408	.	19/19	.	.	.	.	.	.	.	.	.	19/19	nonpreferredpair	ENST00000295408	Transcript	.	.	ENSG00000153208	7027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated_low_confidence(0.12)	.	MERTK_HUMAN	MERTK	HGNC	Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN	.	UPI000013E252	SNV	MERTK,missense_variant,p.Gly966Arg,ENST00000295408,;MERTK,missense_variant,p.Gly966Arg,ENST00000421804,;MERTK,missense_variant,p.Gly790Arg,ENST00000409780,;MERTK,downstream_gene_variant,,ENST00000449344,;MERTK,3_prime_UTR_variant,,ENST00000439966,;	3153	65	72	SUCCESS
SMPD4	55627	.	GRCh37	2	130914864	130914864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs572147978	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	336	97	353	0	ENST00000409031.1:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000409031	NM_017951.4	392	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS42751.1	1174	RADIA|MUSE|VARSCANS	.	GTGGGCGGAGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12988,Pfam_domain:PF14724	T:0	.	ENSP00000386531	T:0	12/20	.	.	.	.	.	.	.	.	rs572147978	12/20	nonpreferredpair	ENST00000409031	Transcript	.	T:0.0004	ENSG00000136699	32949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.013)	T:0.002	tolerated(0.37)	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	SNV	SMPD4,missense_variant,p.Ala250Thr,ENST00000339679,;SMPD4,missense_variant,p.Ala221Thr,ENST00000439886,;SMPD4,missense_variant,p.Ala141Thr,ENST00000453750,;SMPD4,missense_variant,p.Ala363Thr,ENST00000351288,;SMPD4,missense_variant,p.Ala133Thr,ENST00000452225,;SMPD4,missense_variant,p.Ala392Thr,ENST00000409031,;SMPD4,missense_variant,p.Ala56Thr,ENST00000443958,;SMPD4,missense_variant,p.Ala140Thr,ENST00000451542,;SMPD4,missense_variant,p.Ala290Thr,ENST00000431183,;SMPD4,intron_variant,,ENST00000430682,;SMPD4,intron_variant,,ENST00000426662,;SMPD4,upstream_gene_variant,,ENST00000449159,;SMPD4,upstream_gene_variant,,ENST00000457039,;SMPD4,non_coding_transcript_exon_variant,,ENST00000455548,;SMPD4,intron_variant,,ENST00000473720,;SMPD4,missense_variant,p.Ala56Thr,ENST00000435455,;SMPD4,3_prime_UTR_variant,,ENST00000433118,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000412570,;SMPD4,non_coding_transcript_exon_variant,,ENST00000482171,;SMPD4,upstream_gene_variant,,ENST00000461187,;SMPD4,upstream_gene_variant,,ENST00000491319,;SMPD4,upstream_gene_variant,,ENST00000491128,;SMPD4,downstream_gene_variant,,ENST00000439029,;	2323	353	433	SUCCESS
ZEB2	9839	.	GRCh37	2	145147427	145147427	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	69	0	ENST00000409487.3:c.3236C>A	p.Ser1079Tyr	p.S1079Y	ENST00000409487		1079	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2186.1	3236	MUTECT|VARSCANS	.	AGTAGGAATAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.88)	.	deleterious(0)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Ser1055Tyr,ENST00000539609,;ZEB2,missense_variant,p.Ser1079Tyr,ENST00000409487,;ZEB2,missense_variant,p.Ser1079Tyr,ENST00000303660,;ZEB2,missense_variant,p.Ser1079Tyr,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;	4421	69	52	SUCCESS
FMNL2	114793	.	GRCh37	2	153496548	153496548	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	233	326	0	ENST00000288670.9:c.3023T>A	p.Leu1008Gln	p.L1008Q	ENST00000288670	NM_052905.3	1008	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46429.1	3023	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCTGATGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,SMART_domains:SM00498	.	.	ENSP00000288670	.	24/26	.	.	.	.	.	.	.	.	.	24/26	nonpreferredpair	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,missense_variant,p.Leu383Gln,ENST00000475377,;FMNL2,missense_variant,p.Leu1008Gln,ENST00000288670,;	3390	326	456	SUCCESS
SCN3A	6328	.	GRCh37	2	165948928	165948928	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	191	331	0	ENST00000360093.3:c.4643A>G	p.Asp1548Gly	p.D1548G	ENST00000360093	NM_001081677.1	1548	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33312.1	4643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATCCGTT	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000283254	.	27/28	.	.	.	.	.	.	.	.	.	27/28	nonpreferredpair	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Asp1548Gly,ENST00000283254,;SCN3A,missense_variant,p.Asp31Gly,ENST00000540861,;SCN3A,missense_variant,p.Asp1548Gly,ENST00000360093,;SCN3A,missense_variant,p.Asp1499Gly,ENST00000409101,;SCN3A,downstream_gene_variant,,ENST00000440431,;AC013463.2,downstream_gene_variant,,ENST00000431341,;SCN3A,non_coding_transcript_exon_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	5111	331	384	SUCCESS
TTN	7273	.	GRCh37	2	179510675	179510675	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	507	24	370	0	ENST00000591111.1:c.35457T>A	p.Asp11819Glu	p.D11819E	ENST00000591111		11819	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS59435.1	40380	MUTECT|MUSE	.	TTCACATCTTC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	217/363	.	.	.	.	.	.	.	.	.	217/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp167Glu,ENST00000426232,;TTN,missense_variant,p.Asp11819Glu,ENST00000591111,;TTN,missense_variant,p.Asp13460Glu,ENST00000589042,;TTN,missense_variant,p.Asp299Glu,ENST00000446966,;TTN,missense_variant,p.Asp10892Glu,ENST00000342992,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.3,downstream_gene_variant,,ENST00000605021,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000590807,;	40605	370	531	SUCCESS
MYT1L	23040	.	GRCh37	2	1946902	1946902	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	515	25	399	0	ENST00000399161.2:c.357T>A	p.Asp119Glu	p.D119E	ENST00000399161	NM_015025.2	119	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS46222.1	357	MUTECT|MUSE	.	TCCTCATCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	9/25	.	.	.	.	.	.	.	.	.	9/25	nonpreferredpair	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(1)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Asp119Glu,ENST00000399161,;MYT1L,missense_variant,p.Asp119Glu,ENST00000428368,;	1027	399	540	SUCCESS
DNAH7	56171	.	GRCh37	2	196674472	196674472	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	329	144	267	0	ENST00000312428.6:c.9885G>A	p.Arg3295=	p.R3295=	ENST00000312428	NM_018897.2	3295	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS42794.1	9885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCCCGCTC	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	52/65	.	.	.	.	.	.	.	.	.	52/65	nonpreferredpair	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;	9986	267	473	SUCCESS
BZW1	9689	.	GRCh37	2	201677965	201677965	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	59	75	0	ENST00000409600.1:c.25C>T	p.Pro9Ser	p.P9S	ENST00000409600	NM_014670.3	9	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS56155.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGCCAACG	NONE	.	.	hmmpanther:PTHR14208,hmmpanther:PTHR14208:SF0	.	.	ENSP00000394316	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000452790	Transcript	.	.	ENSG00000082153	18380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BZW1_HUMAN	BZW1	HGNC	Q3LIC9_HUMAN,D3DN77_HUMAN,C9JWF5_HUMAN,C9JFN4_HUMAN,C9J188_HUMAN,C9IZ80_HUMAN	.	UPI00006C0604	SNV	BZW1,missense_variant,p.Pro13Ser,ENST00000447069,;BZW1,missense_variant,p.Pro9Ser,ENST00000452206,;BZW1,missense_variant,p.Pro9Ser,ENST00000450637,;BZW1,missense_variant,p.Pro41Ser,ENST00000452790,;BZW1,missense_variant,p.Pro13Ser,ENST00000409226,;BZW1,missense_variant,p.Pro9Ser,ENST00000419090,;BZW1,missense_variant,p.Pro9Ser,ENST00000409600,;BZW1,missense_variant,p.Pro9Ser,ENST00000410110,;AC007163.6,upstream_gene_variant,,ENST00000447972,;BZW1,non_coding_transcript_exon_variant,,ENST00000464483,;BZW1,non_coding_transcript_exon_variant,,ENST00000460660,;BZW1,upstream_gene_variant,,ENST00000463310,;	173	75	111	SUCCESS
APOB	338	.	GRCh37	2	21228862	21228862	+	synonymous_variant	Silent	SNP	A	A	C	rs1359068028	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	102	249	0	ENST00000233242.1:c.10878T>G	p.Thr3626=	p.T3626=	ENST00000233242	NM_000384.2	3626	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1703.1	10878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTAGTGTT	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	nonpreferredpair	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,synonymous_variant,p.%3D,ENST00000233242,;	11006	249	326	SUCCESS
CHPF	79586	.	GRCh37	2	220404778	220404778	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775706899	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	95	0	ENST00000243776.6:c.1655G>A	p.Arg552His	p.R552H	ENST00000243776	NM_024536.5	552	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2443.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGCGGC	NONE	byFrequency	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000243776	.	4/4	.	.	.	.	.	.	.	.	rs775706899	4/4	nonpreferredpair	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.666)	.	tolerated(0.54)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Arg552His,ENST00000243776,;CHPF,missense_variant,p.Arg390His,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	1904	95	27	SUCCESS
COPS8	10920	.	GRCh37	2	237998516	237998516	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	38	107	1	ENST00000354371.2:c.210A>G	p.Glu70=	p.E70=	ENST00000354371	NM_006710.4	70	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS2517.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAACTTGG	NONE	.	.	hmmpanther:PTHR13339,Pfam_domain:PF10075	.	.	ENSP00000346340	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000354371	Transcript	.	.	ENSG00000198612	24335	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN8_HUMAN	COPS8	HGNC	.	.	UPI000006CD9B	SNV	COPS8,synonymous_variant,p.%3D,ENST00000409334,;COPS8,synonymous_variant,p.%3D,ENST00000392008,;COPS8,synonymous_variant,p.%3D,ENST00000354371,;COPS8,synonymous_variant,p.%3D,ENST00000409629,;AC105760.2,upstream_gene_variant,,ENST00000418430,;COPS8,3_prime_UTR_variant,,ENST00000419015,;COPS8,non_coding_transcript_exon_variant,,ENST00000470452,;COPS8,upstream_gene_variant,,ENST00000447464,;	863	108	70	SUCCESS
IGKV1D-39	28893	.	GRCh37	2	89901341	89901341	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	20	0	ENST00000448155.2:c.27C>T	p.Leu9=	p.L9=	ENST00000448155		9	ctC/ctT	0	.	.	.	.	.	T	L	IG_V_gene	YES	.	27	RADIA|SOMATICSNIPER|VARSCANS	.	CAGCTCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Gene3D:2.60.40.10	.	.	ENSP00000406382	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000448155	Transcript	.	.	ENSG00000251546	5756	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGKV1D-39	HGNC	.	.	UPI0000F30383	SNV	IGKV1D-39,synonymous_variant,p.%3D,ENST00000448155,;	50	20	28	SUCCESS
KANSL3	55683	.	GRCh37	2	97285440	97285440	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	143	231	0	ENST00000431828.1:c.446C>G	p.Ser149Cys	p.S149C	ENST00000431828		149	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS46361.1	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGACTGC	NONE	.	.	hmmpanther:PTHR13136	.	.	ENSP00000396749	.	4/21	.	.	.	.	.	.	.	.	.	4/21	nonpreferredpair	ENST00000431828	Transcript	.	.	ENSG00000114982	25473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0.03)	.	KANL3_HUMAN	KANSL3	HGNC	F8WEN2_HUMAN,B4E1W4_HUMAN	.	UPI0000207C82	SNV	KANSL3,missense_variant,p.Ser62Cys,ENST00000599854,;KANSL3,missense_variant,p.Ser149Cys,ENST00000431828,;KANSL3,missense_variant,p.Ser62Cys,ENST00000435669,;KANSL3,missense_variant,p.Ser62Cys,ENST00000441706,;KANSL3,intron_variant,,ENST00000448075,;KANSL3,intron_variant,,ENST00000440133,;KANSL3,non_coding_transcript_exon_variant,,ENST00000464738,;KANSL3,intron_variant,,ENST00000487070,;KANSL3,missense_variant,p.Ser149Cys,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000425656,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000452268,;KANSL3,intron_variant,,ENST00000597150,;KANSL3,intron_variant,,ENST00000444759,;KANSL3,intron_variant,,ENST00000418735,;KANSL3,intron_variant,,ENST00000416138,;KANSL3,intron_variant,,ENST00000451819,;	523	231	277	SUCCESS
RNF13	11342	.	GRCh37	3	149589886	149589886	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138683130	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	34	198	0	ENST00000344229.3:c.266C>T	p.Ser89Leu	p.S89L	ENST00000344229	NM_007282.4	89	tCa/tTa	0	T:0	.	.	.	.	T	S/L	protein_coding	YES	CCDS3146.1	266	RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCATCTG	NONE	.	.	Pfam_domain:PF02225,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF28	.	T:0.0001	ENSP00000341361	.	5/11	.	.	.	.	.	.	.	.	rs138683130	5/11	nonpreferredpair	ENST00000344229	Transcript	.	.	ENSG00000082996	10057	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.54)	.	RNF13_HUMAN	RNF13	HGNC	F8W989_HUMAN,C9JYY4_HUMAN,C9JYN7_HUMAN,C9JU37_HUMAN,C9JRV0_HUMAN,C9J8T4_HUMAN	.	UPI0000134318	SNV	RNF13,missense_variant,p.Ser89Leu,ENST00000468648,;RNF13,missense_variant,p.Ser89Leu,ENST00000392894,;RNF13,missense_variant,p.Ser89Leu,ENST00000459632,;RNF13,missense_variant,p.Ser89Leu,ENST00000466795,;RNF13,missense_variant,p.Ser89Leu,ENST00000490631,;RNF13,missense_variant,p.Ser89Leu,ENST00000344229,;RNF13,5_prime_UTR_variant,,ENST00000361785,;RNF13,5_prime_UTR_variant,,ENST00000491086,;RNF13,5_prime_UTR_variant,,ENST00000467977,;RNF13,downstream_gene_variant,,ENST00000466478,;RNF13,downstream_gene_variant,,ENST00000470151,;ANKUB1,intron_variant,,ENST00000481585,;RNF13,missense_variant,p.Ser89Leu,ENST00000474348,;RNF13,5_prime_UTR_variant,,ENST00000467996,;	968	198	196	SUCCESS
MCF2L2	23101	.	GRCh37	3	183056602	183056602	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	49	121	0	ENST00000328913.3:c.472A>C	p.Lys158Gln	p.K158Q	ENST00000328913	NM_015078.2	158	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS3243.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTTTAAACT	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826,Gene3D:3.40.525.10,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000328118	.	5/30	.	.	.	.	.	.	.	.	.	5/30	nonpreferredpair	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious(0.04)	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,missense_variant,p.Lys158Gln,ENST00000414362,;MCF2L2,missense_variant,p.Lys158Gln,ENST00000473233,;MCF2L2,missense_variant,p.Lys158Gln,ENST00000447025,;MCF2L2,missense_variant,p.Lys158Gln,ENST00000328913,;MCF2L2,downstream_gene_variant,,ENST00000482017,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000459750,;	770	121	134	SUCCESS
LEPREL1	0	.	GRCh37	3	189700835	189700835	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	307	20	356	0	ENST00000319332.5:c.1324G>A	p.Gly442Ser	p.G442S	ENST00000319332	NM_018192.3	442	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3294.1	1324	MUTECT|MUSE	.	CTTACCTTCTC	NONE	.	.	hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1	.	.	ENSP00000316881	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000319332	Transcript	.	.	ENSG00000090530	19317	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.542)	.	deleterious(0.04)	.	P3H2_HUMAN	LEPREL1	HGNC	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN	.	UPI000007460B	SNV	LEPREL1,missense_variant,p.Gly261Ser,ENST00000427335,;LEPREL1,missense_variant,p.Gly442Ser,ENST00000319332,;LEPREL1,splice_region_variant,,ENST00000475095,;LEPREL1,splice_region_variant,,ENST00000470925,;	1522	356	327	SUCCESS
SDHAP1	255812	.	GRCh37	3	195709034	195709034	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	21	154	0	ENST00000427841.1:n.898G>T		p.X300_splice	ENST00000427841		300		0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCTGTGG	NONE	.	.	.	.	.	.	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000427841	Transcript	.	.	ENSG00000185485	32455	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SDHAP1	HGNC	.	.	.	SNV	SDHAP1,splice_region_variant,,ENST00000413474,;SDHAP1,splice_region_variant,,ENST00000427841,;SDHAP1,downstream_gene_variant,,ENST00000435731,;SDHAP1,downstream_gene_variant,,ENST00000427415,;SDHAP1,splice_region_variant,,ENST00000440850,;SDHAP1,splice_region_variant,,ENST00000538515,;SDHAP1,splice_region_variant,,ENST00000354937,;SDHAP1,splice_region_variant,,ENST00000545003,;	898	154	125	SUCCESS
ITPR1	3708	.	GRCh37	3	4726834	4726834	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	77	1	ENST00000354582.6:c.3646C>T	p.Arg1216Trp	p.R1216W	ENST00000354582		1216	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54551.1	3601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000306253	.	29/61	.	.	.	.	.	.	.	.	.	29/61	nonpreferredpair	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Arg1201Trp,ENST00000443694,;ITPR1,missense_variant,p.Arg1216Trp,ENST00000354582,;ITPR1,missense_variant,p.Arg1207Trp,ENST00000423119,;ITPR1,missense_variant,p.Arg1192Trp,ENST00000456211,;ITPR1,missense_variant,p.Arg1207Trp,ENST00000357086,;ITPR1,missense_variant,p.Arg1201Trp,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	3951	78	63	SUCCESS
FAM208A	0	.	GRCh37	3	56681065	56681065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	85	189	0	ENST00000493960.2:c.1700G>A	p.Gly567Asp	p.G567D	ENST00000493960	NM_001112736.1	567	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS46853.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAACCAAAA	NONE	.	.	hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	14/24	.	.	.	.	.	.	.	.	.	14/24	nonpreferredpair	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.3)	.	deleterious(0.03)	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Gly567Asp,ENST00000355628,;FAM208A,missense_variant,p.Gly567Asp,ENST00000493960,;FAM208A,missense_variant,p.Gly171Asp,ENST00000431842,;	1711	189	172	SUCCESS
MTMR14	64419	.	GRCh37	3	9703950	9703950	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	34	177	0	ENST00000296003.4:c.309-1G>A		p.X103_splice	ENST00000296003	NM_001077525.2	103		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43043.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGGTTTG	NONE	.	.	.	.	.	ENSP00000296003	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000296003	Transcript	.	.	ENSG00000163719	26190	.	.	HIGH	2/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMRE_HUMAN	MTMR14	HGNC	.	.	UPI000007423D	SNV	MTMR14,splice_acceptor_variant,,ENST00000351233,;MTMR14,splice_acceptor_variant,,ENST00000353332,;MTMR14,splice_acceptor_variant,,ENST00000296003,;MTMR14,intron_variant,,ENST00000420925,;MTMR14,splice_acceptor_variant,,ENST00000430020,;MTMR14,splice_acceptor_variant,,ENST00000416864,;MTMR14,splice_acceptor_variant,,ENST00000449543,;MTMR14,splice_acceptor_variant,,ENST00000437997,;MTMR14,intron_variant,,ENST00000447144,;	.	177	171	SUCCESS
EMCN	51705	.	GRCh37	4	101401081	101401081	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	608	43	753	0	ENST00000296420.4:c.180T>A	p.Thr60=	p.T60=	ENST00000296420	NM_001159694.1	60	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3655.1	180	MUTECT|MUSE	.	TTAGGAGTTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15869,Pfam_domain:PF07010	.	.	ENSP00000296420	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000296420	Transcript	.	.	ENSG00000164035	16041	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUCEN_HUMAN	EMCN	HGNC	Q53H40_HUMAN,Q4W5J1_HUMAN	.	UPI000003777D	SNV	EMCN,synonymous_variant,p.%3D,ENST00000305864,;EMCN,synonymous_variant,p.%3D,ENST00000296420,;EMCN,synonymous_variant,p.%3D,ENST00000511970,;EMCN,synonymous_variant,p.%3D,ENST00000502569,;EMCN,upstream_gene_variant,,ENST00000506300,;EMCN,non_coding_transcript_exon_variant,,ENST00000512253,;EMCN,non_coding_transcript_exon_variant,,ENST00000502327,;EMCN,non_coding_transcript_exon_variant,,ENST00000506323,;EMCN,downstream_gene_variant,,ENST00000502744,;EMCN,downstream_gene_variant,,ENST00000510657,;	359	753	651	SUCCESS
TNIP3	79931	.	GRCh37	4	122078361	122078361	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1370625471	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	118	266	0	ENST00000057513.3:c.251G>T	p.Arg84Ile	p.R84I	ENST00000057513	NM_024873.5	84	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS58926.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCTTTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2	.	.	ENSP00000426613	.	7/13	.	.	.	.	.	.	.	.	.	7/13	nonpreferredpair	ENST00000509841	Transcript	.	.	ENSG00000050730	19315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	TNIP3_HUMAN	TNIP3	HGNC	.	.	UPI00017A8362	SNV	TNIP3,missense_variant,p.Arg161Ile,ENST00000509841,;TNIP3,missense_variant,p.Arg84Ile,ENST00000454328,;TNIP3,missense_variant,p.Arg84Ile,ENST00000057513,;TNIP3,missense_variant,p.Arg154Ile,ENST00000507879,;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;	561	266	323	SUCCESS
JADE1	79960	.	GRCh37	4	129752910	129752910	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	89	164	0	ENST00000226319.6:c.-4G>C		p.*2*	ENST00000226319	NM_199320.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34062.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGATCAT	NONE	.	.	.	.	.	ENSP00000226319	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000226319	Transcript	.	.	ENSG00000077684	30027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JADE1_HUMAN	JADE1	HGNC	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN	.	UPI000020B45B	SNV	JADE1,5_prime_UTR_variant,,ENST00000514740,;JADE1,5_prime_UTR_variant,,ENST00000512960,;JADE1,5_prime_UTR_variant,,ENST00000504089,;JADE1,5_prime_UTR_variant,,ENST00000507833,;JADE1,5_prime_UTR_variant,,ENST00000508997,;JADE1,5_prime_UTR_variant,,ENST00000452328,;JADE1,5_prime_UTR_variant,,ENST00000511647,;JADE1,5_prime_UTR_variant,,ENST00000413543,;JADE1,5_prime_UTR_variant,,ENST00000503785,;JADE1,5_prime_UTR_variant,,ENST00000510308,;JADE1,5_prime_UTR_variant,,ENST00000226319,;JADE1,5_prime_UTR_variant,,ENST00000511925,;	277	164	115	SUCCESS
HTT	3064	.	GRCh37	4	3230361	3230361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	32	55	0	ENST00000355072.5:c.7868G>T	p.Trp2623Leu	p.W2623L	ENST00000355072	NM_002111.6	2623	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS43206.1	7868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTGGCTGG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	58/67	.	.	.	.	.	.	.	.	.	58/67	nonpreferredpair	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Trp2623Leu,ENST00000355072,;HTT,upstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000512068,;	8013	55	66	SUCCESS
PDS5A	23244	.	GRCh37	4	39878616	39878616	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747764651	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	365	28	260	0	ENST00000303538.8:c.2150G>A	p.Arg717Gln	p.R717Q	ENST00000303538	NM_001100399.1	717	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS47045.1	2150	MUTECT|MUSE	.	ACGATCGTATC	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000303427	.	19/33	.	.	.	.	.	.	.	.	rs747764651	19/33	nonpreferredpair	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.556)	.	tolerated(0.41)	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,missense_variant,p.Arg717Gln,ENST00000303538,;PDS5A,upstream_gene_variant,,ENST00000503696,;PDS5A,upstream_gene_variant,,ENST00000507020,;	2690	260	393	SUCCESS
IL9	3578	.	GRCh37	5	135231424	135231424	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	19	179	0	ENST00000274520.1:c.82C>T	p.Leu28=	p.L28=	ENST00000274520	NM_000590.1	28	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4189.1	82	MUTECT|MUSE|VARSCANS	.	GTCCAGGATCC	NONE	.	.	hmmpanther:PTHR16926,hmmpanther:PTHR16926:SF1,Pfam_domain:PF01415	.	.	ENSP00000274520	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000274520	Transcript	.	.	ENSG00000145839	6029	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL9_HUMAN	IL9	HGNC	.	.	UPI000004F0F9	SNV	IL9,synonymous_variant,p.%3D,ENST00000274520,;GS1-39E22.1,downstream_gene_variant,,ENST00000523722,;GS1-39E22.2,upstream_gene_variant,,ENST00000522973,;	93	179	197	SUCCESS
ANKHD1	54882	.	GRCh37	5	139915024	139915024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	106	191	1	ENST00000360839.2:c.6928G>A	p.Gly2310Arg	p.G2310R	ENST00000360839	NM_017747.2	2310	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS4224.1	6928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCAGGAACA	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	30/36	.	.	.	.	.	.	.	.	.	30/36	nonpreferredpair	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Gly801Arg,ENST00000435794,;ANKHD1,missense_variant,p.Gly2310Arg,ENST00000360839,;ANKHD1,missense_variant,p.Gly2310Arg,ENST00000297183,;ANKHD1,missense_variant,p.Gly832Arg,ENST00000433049,;ANKHD1-EIF4EBP3,missense_variant,p.Gly321Arg,ENST00000437495,;ANKHD1,missense_variant,p.Gly966Arg,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Gly2310Arg,ENST00000532219,;ANKHD1,intron_variant,,ENST00000432301,;ANKHD1,intron_variant,,ENST00000544120,;SRA1,downstream_gene_variant,,ENST00000602657,;ANKHD1,upstream_gene_variant,,ENST00000421706,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000475148,;ANKHD1,upstream_gene_variant,,ENST00000495578,;	7052	192	266	SUCCESS
TENM2	57451	.	GRCh37	5	167643791	167643791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	85	222	0	ENST00000518659.1:c.4097A>G	p.Asn1366Ser	p.N1366S	ENST00000518659	NM_001122679.1	1366	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	.	4097	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAATGGGC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000429430	.	22/29	.	.	.	.	.	.	.	.	.	22/29	nonpreferredpair	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.37)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Asn1365Ser,ENST00000545108,;TENM2,missense_variant,p.Asn1127Ser,ENST00000520394,;TENM2,missense_variant,p.Asn1245Ser,ENST00000519204,;TENM2,missense_variant,p.Asn1366Ser,ENST00000518659,;TENM2,missense_variant,p.Asn1190Ser,ENST00000403607,;	4136	222	238	SUCCESS
CDH6	1004	.	GRCh37	5	31297484	31297484	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	117	218	0	ENST00000265071.2:c.612A>G	p.Gly204=	p.G204=	ENST00000265071	NM_004932.3	204	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS3894.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGACAGCC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000265071	.	4/12	.	.	.	.	.	.	.	.	.	4/12	nonpreferredpair	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,synonymous_variant,p.%3D,ENST00000514738,;CDH6,synonymous_variant,p.%3D,ENST00000265071,;CDH6,non_coding_transcript_exon_variant,,ENST00000508132,;	877	218	275	SUCCESS
EGFLAM	133584	.	GRCh37	5	38406944	38406944	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	19	259	0	ENST00000354891.3:c.843T>A	p.Pro281=	p.P281=	ENST00000354891	NM_001205301.1	281	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS56363.1	843	MUTECT|MUSE	.	CTTCCTGCTAC	NONE	.	.	hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574	.	.	ENSP00000346964	.	8/23	.	.	.	.	.	.	.	.	.	8/23	nonpreferredpair	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;EGFLAM,intron_variant,,ENST00000397202,;EGFLAM-AS2,upstream_gene_variant,,ENST00000512603,;EGFLAM-AS2,upstream_gene_variant,,ENST00000514377,;	1189	259	296	SUCCESS
C5orf28	0	.	GRCh37	5	43446540	43446540	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	12	158	0	ENST00000397080.3:c.432T>G	p.Leu144=	p.L144=	ENST00000397080	NM_022483.4	144	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3945.1	432	MUTECT|MUSE	.	CAGGGAAGAAA	NONE	.	.	hmmpanther:PTHR13628,hmmpanther:PTHR13628:SF1	.	.	ENSP00000426067	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000500337	Transcript	.	.	ENSG00000151881	26139	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE028_HUMAN	C5orf28	HGNC	Q6GMT5_HUMAN,D6RAV6_HUMAN	.	UPI000006FA64	SNV	C5orf28,synonymous_variant,p.%3D,ENST00000397080,;C5orf28,synonymous_variant,p.%3D,ENST00000500337,;C5orf28,synonymous_variant,p.%3D,ENST00000510130,;C5orf28,synonymous_variant,p.%3D,ENST00000537319,;C5orf28,synonymous_variant,p.%3D,ENST00000506860,;C5orf28,synonymous_variant,p.%3D,ENST00000512085,;C5orf28,non_coding_transcript_exon_variant,,ENST00000511525,;	764	158	193	SUCCESS
ADCY2	108	.	GRCh37	5	7773143	7773143	+	synonymous_variant	Silent	SNP	G	G	A	rs1420640013	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	170	302	0	ENST00000338316.4:c.2313G>A	p.Val771=	p.V771=	ENST00000338316	NM_020546.2	771	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3872.2	2313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGGGCTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	18/25	.	.	.	.	.	.	.	.	COSM1544533	18/25	nonpreferredpair	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,synonymous_variant,p.%3D,ENST00000338316,;ADCY2,synonymous_variant,p.%3D,ENST00000537121,;ADCY2,upstream_gene_variant,,ENST00000493243,;	2402	302	373	SUCCESS
GPR98	0	.	GRCh37	5	89933635	89933635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	10	98	0	ENST00000405460.2:c.2110C>A	p.Pro704Thr	p.P704T	ENST00000405460	NM_032119.3	704	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47246.1	2110	MUTECT|MUSE|VARSCANS	.	TGACCCCGGAT	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	11/90	.	.	.	.	.	.	.	.	.	11/90	nonpreferredpair	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Pro704Thr,ENST00000405460,;GPR98,missense_variant,p.Pro293Thr,ENST00000504142,;GPR98,upstream_gene_variant,,ENST00000512205,;	2206	98	118	SUCCESS
RNF217	154214	.	GRCh37	6	125402633	125402633	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779617698	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	246	24	257	0	ENST00000521654.2:c.1535G>T	p.Gly512Val	p.G512V	ENST00000521654	NM_001286398.1	512	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5129.1	659	MUTECT|MUSE|VARSCANS	.	ACTAGGGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF103	.	.	ENSP00000352734	.	7/9	.	.	.	.	.	.	.	.	rs779617698	7/9	nonpreferredpair	ENST00000359704	Transcript	.	.	ENSG00000146373	21487	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.541)	.	deleterious(0.01)	.	RN217_HUMAN	RNF217	HGNC	.	.	UPI000007307D	SNV	RNF217,missense_variant,p.Gly512Val,ENST00000521654,;RNF217,missense_variant,p.Gly74Val,ENST00000368414,;RNF217,missense_variant,p.Gly277Val,ENST00000560949,;RNF217,missense_variant,p.Gly156Val,ENST00000275184,;RNF217,missense_variant,p.Gly220Val,ENST00000359704,;RNF217,3_prime_UTR_variant,,ENST00000519565,;RNF217,non_coding_transcript_exon_variant,,ENST00000368415,;RNF217,downstream_gene_variant,,ENST00000432158,;	997	257	270	SUCCESS
UTRN	7402	.	GRCh37	6	144765510	144765510	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	25	52	0	ENST00000367545.3:c.1606G>T	p.Glu536Ter	p.E536*	ENST00000367545	NM_007124.2	536	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34547.1	1606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000356515	.	13/74	.	.	.	.	.	.	.	.	.	13/74	nonpreferredpair	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,stop_gained,p.Glu536Ter,ENST00000367545,;	1606	52	35	SUCCESS
RAB32	10981	.	GRCh37	6	146865246	146865246	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1054860397	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	15	91	0	ENST00000367495.3:c.239G>A	p.Trp80Ter	p.W80*	ENST00000367495	NM_006834.3	80	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS5210.1	239	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGGACA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF440,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000356465	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000367495	Transcript	.	.	ENSG00000118508	9772	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB32_HUMAN	RAB32	HGNC	.	.	UPI000000126A	SNV	RAB32,stop_gained,p.Trp80Ter,ENST00000367495,;	418	91	112	SUCCESS
SYNE1	23345	.	GRCh37	6	152631939	152631939	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	28	275	0	ENST00000367255.5:c.16780A>C	p.Thr5594Pro	p.T5594P	ENST00000367255	NM_182961.3	5594	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS5236.2	16780	MUTECT|MUSE|VARSCANS	.	GCTAGTGAGGT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	88/146	.	.	.	.	.	.	.	.	.	88/146	nonpreferredpair	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.037)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Thr118Pro,ENST00000356820,;SYNE1,missense_variant,p.Thr5523Pro,ENST00000448038,;SYNE1,missense_variant,p.Thr5594Pro,ENST00000367255,;SYNE1,missense_variant,p.Thr5523Pro,ENST00000423061,;SYNE1,missense_variant,p.Thr5206Pro,ENST00000341594,;SYNE1,missense_variant,p.Thr5594Pro,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,downstream_gene_variant,,ENST00000490135,;	17382	275	298	SUCCESS
SYNE1	23345	.	GRCh37	6	152756914	152756914	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	58	0	ENST00000367255.5:c.4310+162T>A		p.*1437*	ENST00000367255	NM_182961.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5236.2	.	MUTECT|MUSE	.	TCTGTATTAGC	NONE	.	.	.	.	.	ENSP00000356224	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODIFIER	33/145	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,3_prime_UTR_variant,,ENST00000367248,;SYNE1,3_prime_UTR_variant,,ENST00000413186,;SYNE1,intron_variant,,ENST00000423061,;SYNE1,intron_variant,,ENST00000448038,;SYNE1,intron_variant,,ENST00000367255,;SYNE1,intron_variant,,ENST00000367253,;SYNE1,intron_variant,,ENST00000341594,;SYNE1,intron_variant,,ENST00000265368,;SYNE1,intron_variant,,ENST00000461872,;	.	58	38	SUCCESS
TRIM31	11074	.	GRCh37	6	30071337	30071337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	60	0	ENST00000376734.3:c.1254G>T	p.Trp418Cys	p.W418C	ENST00000376734	NM_007028.3	418	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS34374.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAACCAAGC	NONE	.	.	.	.	.	ENSP00000365924	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000376734	Transcript	.	.	ENSG00000204616	16289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.17)	.	TRI31_HUMAN	TRIM31	HGNC	Q2L6J1_HUMAN	.	UPI00001B0109	SNV	TRIM31,missense_variant,p.Trp418Cys,ENST00000376734,;TRIM31,missense_variant,p.Trp418Cys,ENST00000540829,;TRIM31-AS1,upstream_gene_variant,,ENST00000440874,;TRIM31,downstream_gene_variant,,ENST00000485864,;TRIM31,non_coding_transcript_exon_variant,,ENST00000471695,;TRIM31,downstream_gene_variant,,ENST00000484583,;TRIM31,downstream_gene_variant,,ENST00000468264,;	1380	60	58	SUCCESS
TNXB	7148	.	GRCh37	6	32010105	32010105	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs774153644	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	387	161	556	1	ENST00000451343.1:c.1532T>G	p.Phe511Cys	p.F511C	ENST00000451343	NM_032470.3	511	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS4736.1	1532	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAAGTCT	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000407685	.	10/13	.	.	.	.	.	.	.	.	rs774153644	10/13	nonpreferredpair	ENST00000451343	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TENX_HUMAN	TNXB	HGNC	B6RHJ5_HUMAN	.	UPI0000000E8E	SNV	TNXB,missense_variant,p.Phe4080Cys,ENST00000375247,;TNXB,missense_variant,p.Phe511Cys,ENST00000451343,;TNXB,missense_variant,p.Phe4082Cys,ENST00000375244,;CYP21A2,downstream_gene_variant,,ENST00000418967,;CYP21A2,downstream_gene_variant,,ENST00000435122,;CYP21A2,downstream_gene_variant,,ENST00000478281,;CYP21A2,downstream_gene_variant,,ENST00000471671,;TNXB,non_coding_transcript_exon_variant,,ENST00000498094,;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000462278,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000488465,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000464325,;	2441	557	549	SUCCESS
FRS3	10817	.	GRCh37	6	41738507	41738507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	84	0	ENST00000259748.2:c.1329G>T	p.Met443Ile	p.M443I	ENST00000259748		443	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS4860.1	1329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCATGGG	NONE	.	.	hmmpanther:PTHR21258:SF39,hmmpanther:PTHR21258	.	.	ENSP00000362109	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000373018	Transcript	.	.	ENSG00000137218	16970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	FRS3_HUMAN	FRS3	HGNC	A6PVU0_HUMAN	.	UPI0000073ACA	SNV	FRS3,missense_variant,p.Met443Ile,ENST00000259748,;FRS3,missense_variant,p.Met443Ile,ENST00000373018,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,;	1581	84	52	SUCCESS
PGK2	5232	.	GRCh37	6	49754008	49754008	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1561922093	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	66	164	0	ENST00000304801.3:c.893T>A	p.Val298Asp	p.V298D	ENST00000304801	NM_138733.4	298	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS4930.1	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAACCTGA	NONE	.	.	HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1270,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.02)	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,missense_variant,p.Val298Asp,ENST00000304801,;	1046	164	142	SUCCESS
C6orf57	0	.	GRCh37	6	71298368	71298368	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	106	174	0	ENST00000370474.3:c.268G>C	p.Gly90Arg	p.G90R	ENST00000370474	NM_145267.2	90	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS4972.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGCCCA	NONE	.	.	Pfam_domain:PF07896	.	.	ENSP00000359505	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000370474	Transcript	.	.	ENSG00000154079	20957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CF057_HUMAN	C6orf57	HGNC	.	.	UPI000013DD88	SNV	C6orf57,missense_variant,p.Gly90Arg,ENST00000370474,;	292	174	254	SUCCESS
MB21D1	0	.	GRCh37	6	74161889	74161889	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	56	0	ENST00000370315.3:c.16G>A	p.Gly6Arg	p.G6R	ENST00000370315	NM_138441.2	6	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4978.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCGTGCC	NONE	.	.	.	.	.	ENSP00000359339	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000370315	Transcript	.	.	ENSG00000164430	21367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.06)	.	CGAS_HUMAN	MB21D1	HGNC	A6PW79_HUMAN	.	UPI00001AEC2D	SNV	MB21D1,missense_variant,p.Gly6Arg,ENST00000370315,;MB21D1,missense_variant,p.Gly6Arg,ENST00000370318,;	111	56	96	SUCCESS
MYO6	4646	.	GRCh37	6	76599823	76599823	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	114	204	0	ENST00000369977.3:c.2708T>G	p.Val903Gly	p.V903G	ENST00000369977	NM_004999.3	903	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS34487.1	2708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGTTAAAA	NONE	.	.	hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000358994	.	26/35	.	.	.	.	.	.	.	.	.	26/35	nonpreferredpair	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Val903Gly,ENST00000369985,;MYO6,missense_variant,p.Val903Gly,ENST00000369977,;MYO6,missense_variant,p.Val903Gly,ENST00000369981,;MYO6,missense_variant,p.Val903Gly,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;	2847	204	299	SUCCESS
UBE2J1	51465	.	GRCh37	6	90053437	90053437	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	59	71	0	ENST00000435041.2:c.70G>T	p.Asp24Tyr	p.D24Y	ENST00000435041	NM_016021.2	24	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5021.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCTTTCA	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF54,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000451261	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000435041	Transcript	.	.	ENSG00000198833	17598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	UB2J1_HUMAN	UBE2J1	HGNC	.	.	UPI00000715BA	SNV	UBE2J1,missense_variant,p.Asp24Tyr,ENST00000435041,;	349	71	77	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113518905	113518905	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs4304271	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	162	0	ENST00000284601.3:c.2242G>C	p.Glu748Gln	p.E748Q	ENST00000284601	NM_002711.3	748	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5759.1	2242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCTCTAG	NONE	.	.	.	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	rs4304271,COSM1447383	4/4	nonpreferredpair	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.939)	.	deleterious(0.01)	0,1	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,missense_variant,p.Glu748Gln,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	2311	162	138	SUCCESS
MDFIC	29969	.	GRCh37	7	114655974	114655974	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	97	209	0	ENST00000393486.1:c.726T>C	p.Ile242=	p.I242=	ENST00000393486	NM_001166345.1	242	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS34737.1	1053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATTTGTTT	NONE	.	.	hmmpanther:PTHR15304,hmmpanther:PTHR15304:SF0,Pfam_domain:PF15316	.	.	ENSP00000257724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000257724	Transcript	.	.	ENSG00000135272	28870	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MDFIC	HGNC	J3KN13_HUMAN,C9J784_HUMAN	.	UPI000013CF80	SNV	MDFIC,synonymous_variant,p.%3D,ENST00000257724,;MDFIC,synonymous_variant,p.%3D,ENST00000393486,;MDFIC,downstream_gene_variant,,ENST00000498196,;MDFIC,3_prime_UTR_variant,,ENST00000431629,;	1316	209	244	SUCCESS
MKRN1	23608	.	GRCh37	7	140156621	140156621	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777615203	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	42	110	0	ENST00000255977.2:c.817G>T	p.Val273Leu	p.V273L	ENST00000255977	NM_013446.3	273	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS5860.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGGCAA	NONE	.	.	Superfamily_domains:SSF57850,Gene3D:3.30.40.10,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37	.	.	ENSP00000255977	.	5/8	.	.	.	.	.	.	.	.	rs777615203	5/8	nonpreferredpair	ENST00000255977	Transcript	.	.	ENSG00000133606	7112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	deleterious(0)	.	MKRN1_HUMAN	MKRN1	HGNC	F5H0I9_HUMAN,C9JYX8_HUMAN,C9J031_HUMAN,C9IY57_HUMAN	.	UPI0000001C5F	SNV	MKRN1,missense_variant,p.Val7Leu,ENST00000437223,;MKRN1,missense_variant,p.Val273Leu,ENST00000443720,;MKRN1,missense_variant,p.Val273Leu,ENST00000255977,;MKRN1,missense_variant,p.Val209Leu,ENST00000474576,;MKRN1,synonymous_variant,p.%3D,ENST00000480552,;MKRN1,downstream_gene_variant,,ENST00000473444,;MKRN1,downstream_gene_variant,,ENST00000494939,;MKRN1,upstream_gene_variant,,ENST00000463142,;MKRN1,downstream_gene_variant,,ENST00000471104,;MKRN1,downstream_gene_variant,,ENST00000467513,;MKRN1,downstream_gene_variant,,ENST00000481705,;MKRN1,synonymous_variant,p.%3D,ENST00000495305,;MKRN1,3_prime_UTR_variant,,ENST00000496169,;MKRN1,non_coding_transcript_exon_variant,,ENST00000468447,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;MKRN1,downstream_gene_variant,,ENST00000475180,;MKRN1,downstream_gene_variant,,ENST00000498535,;	1042	110	120	SUCCESS
KEL	3792	.	GRCh37	7	142639989	142639989	+	synonymous_variant	Silent	SNP	G	G	A	rs367661434	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	7	118	0	ENST00000355265.2:c.1914C>T	p.Asp638=	p.D638=	ENST00000355265	NM_000420.2	638	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS34766.1	1914	MUTECT|MUSE	.	CCAACGTCTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486,Prints_domain:PR00786	.	A:0.0001	ENSP00000347409	.	17/19	.	.	.	.	.	.	.	.	rs367661434,COSM2151305	17/19	nonpreferredpair	ENST00000355265	Transcript	.	.	ENSG00000197993	6308	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	KELL_HUMAN	KEL	HGNC	Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN	.	UPI000000D923	SNV	KEL,synonymous_variant,p.%3D,ENST00000355265,;C7orf34,downstream_gene_variant,,ENST00000409607,;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000478969,;KEL,non_coding_transcript_exon_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;	2389	118	127	SUCCESS
ZNF783	100289678	.	GRCh37	7	148963616	148963616	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	37	0	ENST00000378052.1:c.215G>T	p.Gly72Val	p.G72V	ENST00000378052		72	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS56519.1	215	RADIA|MUTECT|MUSE	.	CACGGGGACAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12417,hmmpanther:PTHR24390:SF40,hmmpanther:PTHR24390	.	.	ENSP00000410890	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000434415	Transcript	.	.	ENSG00000204946	27222	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	.	ZNF783	HGNC	C9J9J2_HUMAN	.	UPI0000ED938D	SNV	ZNF783,missense_variant,p.Gly72Val,ENST00000434415,;ZNF783,missense_variant,p.Gly72Val,ENST00000378052,;ZNF783,missense_variant,p.Gly72Val,ENST00000476295,;	378	37	57	SUCCESS
SNX13	23161	.	GRCh37	7	17833732	17833732	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	608	32	444	0	ENST00000428135.3:c.2811G>A	p.Lys937=	p.K937=	ENST00000428135	NM_015132.4	937	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS47551.1	2811	MUTECT|MUSE	.	ATCTGCTTTGA	NONE	.	.	hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26	.	.	ENSP00000398789	.	26/26	.	.	.	.	.	.	.	.	.	26/26	nonpreferredpair	ENST00000428135	Transcript	.	.	ENSG00000071189	21335	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX13_HUMAN	SNX13	HGNC	B3KN60_HUMAN	.	UPI000002B3E8	SNV	SNX13,synonymous_variant,p.%3D,ENST00000428135,;SNX13,3_prime_UTR_variant,,ENST00000409389,;SNX13,non_coding_transcript_exon_variant,,ENST00000496855,;SNX13,3_prime_UTR_variant,,ENST00000409076,;	3010	444	640	SUCCESS
POM121L12	285877	.	GRCh37	7	53104219	53104219	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	68	85	0	ENST00000408890.4:c.855C>T	p.Leu285=	p.L285=	ENST00000408890	NM_182595.3	285	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43584.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCGAGGT	BUFFER|p.F283F|c.849C>T|3	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,synonymous_variant,p.%3D,ENST00000408890,;	871	85	115	SUCCESS
NUPR1L	0	.	GRCh37	7	56183794	56183794	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1488645656	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	32	0	ENST00000329309.3:c.214G>A	p.Val72Ile	p.V72I	ENST00000329309	NM_001145712.1	72	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS59058.1	214	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGACCTTGC	NONE	.	.	hmmpanther:PTHR17149:SF3,hmmpanther:PTHR17149,Pfam_domain:PF10195	.	.	ENSP00000455442	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000329309	Transcript	.	.	ENSG00000185290	44164	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.299)	.	tolerated(1)	.	NUR1L_HUMAN	NUPR1L	HGNC	.	.	UPI00001D751D	SNV	NUPR1L,missense_variant,p.Val72Ile,ENST00000329309,;	300	32	26	SUCCESS
USP42	84132	.	GRCh37	7	6189266	6189266	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	258	51	162	0	ENST00000306177.5:c.1440del	p.Met481CysfsTer32	p.M481Cfs*32	ENST00000306177	NM_032172.2	480	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS47535.1	1439	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGTTCCATGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	.	ENSP00000301962	.	13/18	.	.	.	.	.	.	.	.	.	13/18	nonpreferredpair	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	deletion	USP42,frameshift_variant,p.Met481CysfsTer32,ENST00000306177,;USP42,frameshift_variant,p.Met327CysfsTer32,ENST00000426246,;USP42,frameshift_variant,p.Met414CysfsTer32,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;	1597	162	309	SUCCESS
COL28A1	340267	.	GRCh37	7	7571014	7571014	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752702906	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	46	114	0	ENST00000399429.3:c.646G>A	p.Asp216Asn	p.D216N	ENST00000399429	NM_001037763.2	216	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS43553.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCACTCA	NONE	.	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000382356	.	3/35	.	.	.	.	.	.	.	.	rs752702906	3/35	nonpreferredpair	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,missense_variant,p.Asp216Asn,ENST00000399429,;	787	114	140	SUCCESS
CDK14	5218	.	GRCh37	7	90355912	90355912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	11	172	0	ENST00000380050.3:c.155G>T	p.Cys52Phe	p.C52F	ENST00000380050	NM_001287137.1	52	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS5619.1	101	MUTECT|MUSE	.	GAACTGCCAGG	NONE	.	.	.	.	.	ENSP00000265741	.	2/14	.	.	.	.	.	.	.	.	.	2/14	nonpreferredpair	ENST00000265741	Transcript	.	.	ENSG00000058091	8883	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	CDK14_HUMAN	CDK14	HGNC	C9JWL6_HUMAN,C9IYJ9_HUMAN	.	UPI0000161B93	SNV	CDK14,missense_variant,p.Cys6Phe,ENST00000446790,;CDK14,missense_variant,p.Cys6Phe,ENST00000446224,;CDK14,missense_variant,p.Cys52Phe,ENST00000380050,;CDK14,missense_variant,p.Cys6Phe,ENST00000456689,;CDK14,missense_variant,p.Cys6Phe,ENST00000449528,;CDK14,missense_variant,p.Cys6Phe,ENST00000406263,;CDK14,missense_variant,p.Cys34Phe,ENST00000265741,;CDK14,missense_variant,p.Cys6Phe,ENST00000430760,;CDK14,5_prime_UTR_variant,,ENST00000436577,;CDK14,non_coding_transcript_exon_variant,,ENST00000496279,;CDK14,non_coding_transcript_exon_variant,,ENST00000478540,;CDK14,intron_variant,,ENST00000484035,;CDK14,missense_variant,p.Cys6Phe,ENST00000431029,;	245	172	175	SUCCESS
PVRIG	79037	.	GRCh37	7	99817335	99817335	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	34	0	ENST00000317271.2:c.-198-1G>T		p.X66_splice	ENST00000317271	NM_024070.3	66		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5690.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGCCTA	NONE	.	.	.	.	.	ENSP00000316675	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000317271	Transcript	.	.	ENSG00000213413	32190	.	.	HIGH	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRIG_HUMAN	PVRIG	HGNC	.	.	UPI000013FFF0	SNV	PVRIG,splice_acceptor_variant,,ENST00000317271,;GATS,intron_variant,,ENST00000436886,;AC005071.1,downstream_gene_variant,,ENST00000410550,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000435519,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000414739,;PVRIG,downstream_gene_variant,,ENST00000471803,;GATS,downstream_gene_variant,,ENST00000538588,;GATS,upstream_gene_variant,,ENST00000445230,;STAG3,3_prime_UTR_variant,,ENST00000451963,;GATS,downstream_gene_variant,,ENST00000292369,;	.	34	30	SUCCESS
ADCY8	114	.	GRCh37	8	131793001	131793001	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	69	0	ENST00000286355.5:c.3391C>T	p.Gln1131Ter	p.Q1131*	ENST00000286355	NM_001115.2	1131	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6363.1	3391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGGATCC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	18/18	.	.	.	.	.	.	.	.	.	18/18	nonpreferredpair	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,stop_gained,p.Gln1131Ter,ENST00000286355,;ADCY8,stop_gained,p.Gln1000Ter,ENST00000377928,;	5484	69	119	SUCCESS
DGAT1	8694	.	GRCh37	8	145540247	145540247	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	60	0	ENST00000528718.1:n.580C>T		p.*194*	ENST00000528718		479		0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6420.1	1437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTGAGCAC	NONE	.	.	hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF7,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500231	.	.	ENSP00000332258	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	SNV	DGAT1,synonymous_variant,p.%3D,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,non_coding_transcript_exon_variant,,ENST00000526479,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527438,;HSF1,downstream_gene_variant,,ENST00000533130,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000531447,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,non_coding_transcript_exon_variant,,ENST00000528718,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;DGAT1,downstream_gene_variant,,ENST00000527885,;HSF1,downstream_gene_variant,,ENST00000527328,;	1711	60	57	SUCCESS
RB1CC1	9821	.	GRCh37	8	53569525	53569525	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1429726848	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	314	14	330	0	ENST00000025008.5:c.2864G>A	p.Arg955Gln	p.R955Q	ENST00000025008	NM_014781.4	955	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34892.1	2864	MUTECT|MUSE	.	TTTCTCGTGAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	.	.	ENSP00000025008	.	15/24	.	.	.	.	.	.	.	.	.	15/24	nonpreferredpair	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	deleterious_low_confidence(0.01)	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,missense_variant,p.Arg955Gln,ENST00000025008,;RB1CC1,missense_variant,p.Arg955Gln,ENST00000539297,;RB1CC1,missense_variant,p.Arg955Gln,ENST00000435644,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,downstream_gene_variant,,ENST00000523594,;	3388	330	329	SUCCESS
XKR9	389668	.	GRCh37	8	71646369	71646369	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	800	40	579	0	ENST00000408926.3:c.832A>G	p.Ile278Val	p.I278V	ENST00000408926	NM_001011720.1	278	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34905.1	832	MUTECT|MUSE	.	TTAATATTAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32129:SF6,hmmpanther:PTHR32129,Pfam_domain:PF09815	.	.	ENSP00000386141	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000408926	Transcript	.	.	ENSG00000221947	20937	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.47)	.	XKR9_HUMAN	XKR9	HGNC	E5RFF6_HUMAN	.	UPI00004C7A9F	SNV	XKR9,missense_variant,p.Ile278Val,ENST00000408926,;XKR9,missense_variant,p.Ile278Val,ENST00000520030,;XKR9,intron_variant,,ENST00000520273,;XKR9,3_prime_UTR_variant,,ENST00000520092,;	1366	579	840	SUCCESS
TSPYL5	85453	.	GRCh37	8	98289467	98289467	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	36	0	ENST00000322128.3:c.606G>A	p.Met202Ile	p.M202I	ENST00000322128	NM_033512.2	202	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS34927.1	606	MUTECT|MUSE|VARSCANS	.	GTATCCATGCT	NONE	.	.	hmmpanther:PTHR11875:SF30,hmmpanther:PTHR11875,Pfam_domain:PF00956,Superfamily_domains:SSF143113	.	.	ENSP00000322802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000322128	Transcript	.	.	ENSG00000180543	29367	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.87)	.	deleterious(0.01)	.	TSYL5_HUMAN	TSPYL5	HGNC	.	.	UPI0000210364	SNV	TSPYL5,missense_variant,p.Met202Ile,ENST00000322128,;	710	36	79	SUCCESS
WDR31	114987	.	GRCh37	9	116082738	116082738	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	56	101	0	ENST00000374193.4:c.679C>G	p.Pro227Ala	p.P227A	ENST00000374193	NM_145241.3	227	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS35110.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGAAACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19869,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000363308	.	9/11	.	.	.	.	.	.	.	.	COSM1701541	9/11	nonpreferredpair	ENST00000374193	Transcript	.	.	ENSG00000148225	21421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.983)	.	deleterious(0.03)	1	WDR31_HUMAN	WDR31	HGNC	G5E996_HUMAN	.	UPI000006D080	SNV	WDR31,missense_variant,p.Pro102Ala,ENST00000374195,;WDR31,missense_variant,p.Pro226Ala,ENST00000341761,;WDR31,missense_variant,p.Pro227Ala,ENST00000374193,;WDR31,downstream_gene_variant,,ENST00000465979,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,3_prime_UTR_variant,,ENST00000465205,;	926	101	109	SUCCESS
TLR4	7099	.	GRCh37	9	120466694	120466694	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs2737192	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	32	0	ENST00000355622.6:c.-57G>T		p.*19*	ENST00000355622	NM_138557.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6818.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCGAGCCA	NONE	byHapMap	.	.	.	.	ENSP00000363089	.	1/3	.	.	.	.	.	.	.	.	rs2737192	1/3	nonpreferredpair	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,5_prime_UTR_variant,,ENST00000355622,;TLR4,5_prime_UTR_variant,,ENST00000394487,;RNU6-1082P,downstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,upstream_gene_variant,,ENST00000490685,;	45	32	29	SUCCESS
URM1	81605	.	GRCh37	9	131140322	131140322	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	302	33	404	0	ENST00000372853.4:c.43G>A	p.Ala15Thr	p.A15T	ENST00000372853	NM_001265582.1	15	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS48035.1	43	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTGCGGAG	NONE	.	.	HAMAP:MF_03048,hmmpanther:PTHR14986:SF4,hmmpanther:PTHR14986,Pfam_domain:PF09138,Gene3D:3.10.20.30,Superfamily_domains:SSF54285	.	.	ENSP00000412922	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000452446	Transcript	.	.	ENSG00000167118	28378	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	tolerated(0.1)	.	URM1_HUMAN	URM1	HGNC	.	.	UPI00017A7D83	SNV	URM1,missense_variant,p.Ala15Thr,ENST00000372850,;URM1,missense_variant,p.Ala15Thr,ENST00000452446,;URM1,missense_variant,p.Ala15Thr,ENST00000372853,;URM1,synonymous_variant,p.%3D,ENST00000372847,;URM1,upstream_gene_variant,,ENST00000483206,;URM1,synonymous_variant,p.%3D,ENST00000470840,;	105	404	335	SUCCESS
TMEM8C	0	.	GRCh37	9	136379801	136379801	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770470763	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	111	0	ENST00000339996.3:c.623C>A	p.Pro208Gln	p.P208Q	ENST00000339996	NM_001080483.2	208	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS35170.1	623	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGGGTC	NONE	byFrequency	.	hmmpanther:PTHR14319:SF5,hmmpanther:PTHR14319	.	.	ENSP00000419712	.	5/5	.	.	.	.	.	.	.	.	rs770470763	5/5	nonpreferredpair	ENST00000339996	Transcript	.	.	ENSG00000187616	33778	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	TMM8C_HUMAN	TMEM8C	HGNC	.	.	UPI00003676C5	SNV	TMEM8C,missense_variant,p.Pro208Gln,ENST00000339996,;TMEM8C,downstream_gene_variant,,ENST00000413714,;	725	111	73	SUCCESS
NFIB	4781	.	GRCh37	9	14307000	14307000	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1363394549	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	77	163	0	ENST00000380959.3:c.550G>A	p.Val184Met	p.V184M	ENST00000380959	NM_005596.3	184	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS55291.1	550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGTAGT	NONE	.	.	PROSITE_profiles:PS51080,hmmpanther:PTHR11492,hmmpanther:PTHR11492:SF4	.	.	ENSP00000370340	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000380953	Transcript	.	.	ENSG00000147862	7785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.05)	.	NFIB_HUMAN	NFIB	HGNC	.	.	UPI0000211140	SNV	NFIB,missense_variant,p.Val184Met,ENST00000397579,;NFIB,missense_variant,p.Val184Met,ENST00000397581,;NFIB,missense_variant,p.Val184Met,ENST00000380921,;NFIB,missense_variant,p.Val184Met,ENST00000380959,;NFIB,missense_variant,p.Val210Met,ENST00000380934,;NFIB,missense_variant,p.Val184Met,ENST00000397575,;NFIB,missense_variant,p.Val184Met,ENST00000380953,;NFIB,downstream_gene_variant,,ENST00000606230,;NFIB,downstream_gene_variant,,ENST00000493697,;	706	163	147	SUCCESS
SH3GL2	6456	.	GRCh37	9	17787406	17787406	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	57	0	ENST00000380607.4:c.360C>A	p.Ala120=	p.A120=	ENST00000380607	NM_003026.2	120	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6483.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCATGCG	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000369981	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000380607	Transcript	.	.	ENSG00000107295	10831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3G2_HUMAN	SH3GL2	HGNC	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN	.	UPI0000135933	SNV	SH3GL2,synonymous_variant,p.%3D,ENST00000380607,;SH3GL2,synonymous_variant,p.%3D,ENST00000537391,;	480	58	44	SUCCESS
TUSC1	286319	.	GRCh37	9	25677928	25677928	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1329568788	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	38	0	ENST00000358022.3:c.392G>A	p.Arg131Gln	p.R131Q	ENST00000358022	NM_001004125.2	131	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34999.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCGGCGT	BUFFER|p.A129A|c.387A>G|7	.	.	hmmpanther:PTHR22952:SF109,hmmpanther:PTHR22952	.	.	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.56)	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,missense_variant,p.Arg131Gln,ENST00000358022,;	929	38	32	SUCCESS
KCNV2	169522	.	GRCh37	9	2718691	2718691	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	148	0	ENST00000382082.3:c.952C>T	p.Leu318=	p.L318=	ENST00000382082	NM_133497.3	318	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6447.1	952	RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCTGCTG	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	.	ENSP00000371514	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,synonymous_variant,p.%3D,ENST00000382082,;KIAA0020,downstream_gene_variant,,ENST00000490444,;	1190	148	81	SUCCESS
TEK	7010	.	GRCh37	9	27228230	27228230	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs536255448	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	95	0	ENST00000380036.4:c.3227G>T	p.Arg1076Leu	p.R1076L	ENST00000380036	NM_000459.3	1076	cGg/cTg	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS6519.1	3227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGGAGA	CODON|p.R1076W|c.3226C>T|3	by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109	A:0.001	.	ENSP00000369375	A:0	22/23	.	.	.	.	.	.	.	.	rs536255448	22/23	nonpreferredpair	ENST00000380036	Transcript	.	A:0.0002	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.363)	A:0	deleterious(0.01)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Arg1033Leu,ENST00000406359,;TEK,missense_variant,p.Arg928Leu,ENST00000519097,;TEK,missense_variant,p.Arg1076Leu,ENST00000380036,;	3669	95	87	SUCCESS
NFX1	4799	.	GRCh37	9	33351695	33351695	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	12	71	0	ENST00000379540.3:c.2562G>A	p.Gln854=	p.Q854=	ENST00000379540	NM_002504.4	854	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS6538.1	2562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGCCCTG	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0,Pfam_domain:PF01422,SMART_domains:SM00438	.	.	ENSP00000368856	.	16/24	.	.	.	.	.	.	.	.	.	16/24	nonpreferredpair	ENST00000379540	Transcript	.	.	ENSG00000086102	7803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFX1_HUMAN	NFX1	HGNC	.	.	UPI0000072140	SNV	NFX1,synonymous_variant,p.%3D,ENST00000379540,;NFX1,synonymous_variant,p.%3D,ENST00000379521,;NFX1,downstream_gene_variant,,ENST00000318524,;Y_RNA,downstream_gene_variant,,ENST00000363674,;NFX1,non_coding_transcript_exon_variant,,ENST00000466971,;	2624	71	66	SUCCESS
ZCCHC6	0	.	GRCh37	9	88934568	88934568	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	20	56	0	ENST00000375963.3:c.3046A>T	p.Ile1016Phe	p.I1016F	ENST00000375963	NM_001185059.1	1016	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS35057.1	3046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATTGTTG	NONE	.	.	hmmpanther:PTHR12271:SF34,hmmpanther:PTHR12271,Superfamily_domains:SSF81301	.	.	ENSP00000365130	.	15/27	.	.	.	.	.	.	.	.	.	15/27	nonpreferredpair	ENST00000375963	Transcript	.	.	ENSG00000083223	25817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.25)	.	TUT7_HUMAN	ZCCHC6	HGNC	.	.	UPI00004588F6	SNV	ZCCHC6,missense_variant,p.Ile1016Phe,ENST00000375961,;ZCCHC6,missense_variant,p.Ile305Phe,ENST00000277141,;ZCCHC6,missense_variant,p.Ile1016Phe,ENST00000375963,;ZCCHC6,intron_variant,,ENST00000375960,;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	3219	56	81	SUCCESS
NOX1	27035	.	GRCh37	X	100105359	100105359	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	92	194	0	ENST00000372966.3:c.914C>T	p.Ser305Phe	p.S305F	ENST00000372966	NM_001271815.1	305	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS14474.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGATGGG	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972,Pfam_domain:PF08022,Gene3D:2.40.30.10,Superfamily_domains:SSF63380	.	.	ENSP00000362057	.	9/13	.	.	.	.	.	.	.	.	.	9/13	nonpreferredpair	ENST00000372966	Transcript	.	.	ENSG00000007952	7889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	tolerated(0.12)	.	NOX1_HUMAN	NOX1	HGNC	.	.	UPI00001303C1	SNV	NOX1,missense_variant,p.Ser268Phe,ENST00000372960,;NOX1,missense_variant,p.Ser305Phe,ENST00000217885,;NOX1,missense_variant,p.Ser305Phe,ENST00000372966,;NOX1,intron_variant,,ENST00000372964,;NOX1,upstream_gene_variant,,ENST00000427768,;HNRNPA1P26,downstream_gene_variant,,ENST00000457695,;	1120	194	167	SUCCESS
COL4A5	1287	.	GRCh37	X	107834827	107834827	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs104886113	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	373	138	530	0	ENST00000361603.2:c.1376C>T	p.Pro459Leu	p.P459L	ENST00000361603	NM_000495.4	459	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS35366.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CCCCCCAGGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023	.	.	ENSP00000331902	.	21/53	.	.	.	.	.	.	.	.	CD961912,rs104886113	21/53	nonpreferredpair	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	8940267	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Pro459Leu,ENST00000328300,;COL4A5,missense_variant,p.Pro459Leu,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	1620	530	511	SUCCESS
RGAG1	0	.	GRCh37	X	109695251	109695251	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	145	0	ENST00000465301.2:c.1406T>C	p.Met469Thr	p.M469T	ENST00000465301	NM_020769.2	469	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS14552.1	1406	MUTECT|VARSCANS	.	AACAATGGCCA	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(1)	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,missense_variant,p.Met469Thr,ENST00000540313,;RGAG1,missense_variant,p.Met469Thr,ENST00000465301,;RGAG1,downstream_gene_variant,,ENST00000520821,;	1652	145	107	SUCCESS
PAK3	5063	.	GRCh37	X	110439120	110439120	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	216	462	1	ENST00000262836.4:c.1206T>C	p.Asp402=	p.D402=	ENST00000262836	NM_001128173.1	402	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS48151.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATATAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000353864	.	13/16	.	.	.	.	.	.	.	.	.	13/16	nonpreferredpair	ENST00000360648	Transcript	.	.	ENSG00000077264	8592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAK3_HUMAN	PAK3	HGNC	B1AKS5_HUMAN	.	UPI0000D61DBC	SNV	PAK3,synonymous_variant,p.%3D,ENST00000372010,;PAK3,synonymous_variant,p.%3D,ENST00000360648,;PAK3,synonymous_variant,p.%3D,ENST00000446737,;PAK3,synonymous_variant,p.%3D,ENST00000425146,;PAK3,synonymous_variant,p.%3D,ENST00000417227,;PAK3,synonymous_variant,p.%3D,ENST00000518291,;PAK3,synonymous_variant,p.%3D,ENST00000262836,;PAK3,synonymous_variant,p.%3D,ENST00000372007,;PAK3,synonymous_variant,p.%3D,ENST00000519681,;	1296	463	421	SUCCESS
HTR2C	3358	.	GRCh37	X	113965762	113965762	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	492	36	588	0	ENST00000276198.1:c.95C>G	p.Ala32Gly	p.A32G	ENST00000276198	NM_000868.2	32	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS14564.1	95	MUTECT|MUSE	.	AGCAGCTATAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247,Prints_domain:PR00517	.	.	ENSP00000276198	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000276198	Transcript	.	.	ENSG00000147246	5295	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.06)	.	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,missense_variant,p.Ala32Gly,ENST00000371950,;HTR2C,missense_variant,p.Ala32Gly,ENST00000276198,;HTR2C,missense_variant,p.Ala32Gly,ENST00000371951,;	823	588	528	SUCCESS
DOCK11	139818	.	GRCh37	X	117752664	117752664	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	295	31	411	0	ENST00000276202.7:c.3444T>G	p.His1148Gln	p.H1148Q	ENST00000276202	NM_144658.3	1148	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS35373.1	3444	MUTECT|MUSE|VARSCANS	.	AAACATGCATT	NONE	.	.	hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000276202	.	31/53	.	.	.	.	.	.	.	.	.	31/53	nonpreferredpair	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,missense_variant,p.His1148Gln,ENST00000276204,;DOCK11,missense_variant,p.His1148Gln,ENST00000276202,;	3507	411	326	SUCCESS
TMEM185A	84548	.	GRCh37	X	148690383	148690383	+	synonymous_variant	Silent	SNP	C	C	T	rs150113040	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	69	380	0	ENST00000316916.8:c.354G>A	p.Pro118=	p.P118=	ENST00000316916	NM_032508.2	118	ccG/ccA	0	T:0.0003	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS14689.1	354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGCGGCAT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13568:SF2,hmmpanther:PTHR13568,Pfam_domain:PF10269	T:0	T:0	ENSP00000359449	T:0	3/7	.	.	.	.	.	.	.	.	rs150113040	3/7	nonpreferredpair	ENST00000316916	Transcript	.	T:0.0003	ENSG00000155984	17125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	T185A_HUMAN	TMEM185A	HGNC	.	.	UPI0001AE6FF9	SNV	TMEM185A,synonymous_variant,p.%3D,ENST00000511776,;TMEM185A,synonymous_variant,p.%3D,ENST00000316916,;TMEM185A,synonymous_variant,p.%3D,ENST00000502858,;TMEM185A,synonymous_variant,p.%3D,ENST00000507237,;TMEM185A,synonymous_variant,p.%3D,ENST00000536359,;TMEM185A,3_prime_UTR_variant,,ENST00000502900,;TMEM185A,non_coding_transcript_exon_variant,,ENST00000517359,;TMEM185A,intron_variant,,ENST00000513505,;TMEM185A,intron_variant,,ENST00000502618,;	659	380	315	SUCCESS
GABRA3	2556	.	GRCh37	X	151393310	151393310	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1420749654	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	459	172	680	0	ENST00000370314.4:c.559A>G	p.Ile187Val	p.I187V	ENST00000370314	NM_000808.3	187	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14706.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAATTGTTA	NONE	.	.	Superfamily_domains:0038932,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945	.	.	ENSP00000359337	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000370314	Transcript	.	.	ENSG00000011677	4077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.21)	.	GBRA3_HUMAN	GABRA3	HGNC	.	.	UPI000002D730	SNV	GABRA3,missense_variant,p.Ile187Val,ENST00000535043,;GABRA3,missense_variant,p.Ile187Val,ENST00000370314,;	798	680	631	SUCCESS
ATP6AP1	537	.	GRCh37	X	153657461	153657461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	30	213	0	ENST00000369762.2:c.229T>A	p.Tyr77Asn	p.Y77N	ENST00000369762	NM_001183.4	77	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS35451.1	229	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCTACTTA	NONE	.	.	hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF2,Pfam_domain:PF05827	.	.	ENSP00000358777	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000369762	Transcript	.	.	ENSG00000071553	868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	VAS1_HUMAN	ATP6AP1	HGNC	Q9H0C7_HUMAN	.	UPI000013811E	SNV	ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000422890,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000369762,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000449556,;ATP6AP1,upstream_gene_variant,,ENST00000484908,;ATP6AP1,missense_variant,p.Tyr76Asn,ENST00000455205,;ATP6AP1,missense_variant,p.Tyr61Asn,ENST00000429585,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000446552,;ATP6AP1,missense_variant,p.Tyr77Asn,ENST00000439372,;ATP6AP1,non_coding_transcript_exon_variant,,ENST00000491569,;BX936347.1,upstream_gene_variant,,ENST00000360656,;	290	213	164	SUCCESS
CNKSR2	22866	.	GRCh37	X	21550127	21550127	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	59	327	0	ENST00000379510.3:c.1245T>C	p.Tyr415=	p.Y415=	ENST00000379510	NM_014927.3	415	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS14198.1	1245	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTATGAATA	NONE	.	.	hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Pfam_domain:PF06663	.	.	ENSP00000368824	.	11/22	.	.	.	.	.	.	.	.	.	11/22	nonpreferredpair	ENST00000379510	Transcript	.	.	ENSG00000149970	19701	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNKR2_HUMAN	CNKSR2	HGNC	.	.	UPI0000070D72	SNV	CNKSR2,synonymous_variant,p.%3D,ENST00000379510,;CNKSR2,synonymous_variant,p.%3D,ENST00000425654,;CNKSR2,synonymous_variant,p.%3D,ENST00000543067,;CNKSR2,synonymous_variant,p.%3D,ENST00000279451,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000479158,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000485012,;	1281	327	312	SUCCESS
FAM47B	170062	.	GRCh37	X	34962850	34962850	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	14	225	0	ENST00000329357.5:c.1902C>T	p.Tyr634=	p.Y634=	ENST00000329357	NM_152631.2	634	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS14236.1	1902	MUTECT|MUSE	.	AAGTACAAAGA	NONE	.	.	.	.	.	ENSP00000328307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000329357	Transcript	.	.	ENSG00000189132	26659	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA47B_HUMAN	FAM47B	HGNC	.	.	UPI000013F47B	SNV	FAM47B,synonymous_variant,p.%3D,ENST00000329357,;	1938	225	197	SUCCESS
CHDC2	0	.	GRCh37	X	36083792	36083792	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	534	189	860	0	ENST00000313548.4:c.-26A>T		p.*9*	ENST00000313548	NM_173695.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14238.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAACTGCA	NONE	.	.	.	.	.	ENSP00000324767	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000313548	Transcript	.	.	ENSG00000176034	26708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHDC2_HUMAN	CHDC2	HGNC	.	.	UPI000006F5CD	SNV	CHDC2,missense_variant,p.Asn168Ile,ENST00000378660,;CHDC2,5_prime_UTR_variant,,ENST00000313548,;	161	860	724	SUCCESS
MAOB	4129	.	GRCh37	X	43741550	43741550	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	75	0	ENST00000378069.4:c.-5G>A		p.*2*	ENST00000378069	NM_000898.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14261.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGCTCGCC	NONE	.	.	.	.	.	ENSP00000367309	.	1/15	.	.	.	.	.	.	.	.	.	1/15	nonpreferredpair	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,5_prime_UTR_variant,,ENST00000536181,;MAOB,5_prime_UTR_variant,,ENST00000378069,;MAOB,non_coding_transcript_exon_variant,,ENST00000487544,;MAOB,upstream_gene_variant,,ENST00000468431,;	144	75	103	SUCCESS
ATP7A	538	.	GRCh37	X	77218361	77218361	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	182	0	ENST00000341514.6:c.-21-8757A>G		p.*7*	ENST00000341514	NM_000052.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35339.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAATGCTG	NONE	.	.	.	.	.	ENSP00000345728	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000341514	Transcript	.	.	ENSG00000165240	869	.	.	MODIFIER	1/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP7A_HUMAN	ATP7A	HGNC	.	.	UPI000013E478	SNV	ATP7A,intron_variant,,ENST00000343533,;ATP7A,intron_variant,,ENST00000350425,;ATP7A,intron_variant,,ENST00000341514,;RP5-1000K24.2,non_coding_transcript_exon_variant,,ENST00000602791,;RP5-1000K24.2,non_coding_transcript_exon_variant,,ENST00000506043,;	.	182	129	SUCCESS
SORCS3	22986	.	GRCh37	10	106959776	106959776	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	131	0	ENST00000369699.4:c.-114C>T		p.*38*	ENST00000369699		677		0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7558.1	2029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCTCCGC	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000358715	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.88)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Leu677Phe,ENST00000369701,;SORCS3,5_prime_UTR_variant,,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	2256	131	138	SUCCESS
PFKP	5214	.	GRCh37	10	3146084	3146084	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1313326199	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	51	0	ENST00000381125.4:c.568G>A	p.Ala190Thr	p.A190T	ENST00000381125	NM_002627.4	190	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7059.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGCCCTG	NONE	.	.	Prints_domain:PR00476,Superfamily_domains:SSF53784,PIRSF_domain:PIRSF000533,Gene3D:3.40.50.450,TIGRFAM_domain:TIGR02478,Pfam_domain:PF00365,hmmpanther:PTHR13697:SF5,hmmpanther:PTHR13697,HAMAP:MF_00339	.	.	ENSP00000370517	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000381125	Transcript	.	.	ENSG00000067057	8878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	K6PP_HUMAN	PFKP	HGNC	Q5VSR6_HUMAN,Q5VSR5_HUMAN,B1APP8_HUMAN,B1APP6_HUMAN	.	UPI00000012D2	SNV	PFKP,missense_variant,p.Ala152Thr,ENST00000407806,;PFKP,missense_variant,p.Ala190Thr,ENST00000381125,;PFKP,missense_variant,p.Ala182Thr,ENST00000381075,;PFKP,upstream_gene_variant,,ENST00000468050,;PFKP,downstream_gene_variant,,ENST00000607886,;PFKP,upstream_gene_variant,,ENST00000415005,;PFKP,non_coding_transcript_exon_variant,,ENST00000421751,;PFKP,upstream_gene_variant,,ENST00000460445,;	644	51	65	SUCCESS
CCNYL2	414194	.	GRCh37	10	42947128	42947128	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs761540025	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	97	0	ENST00000483242.3:n.627T>C		p.*209*	ENST00000483242				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTATATCT	NONE	byFrequency|byCluster	.	.	.	.	.	.	3/9	.	.	.	.	.	.	.	.	rs761540025	3/9	PASS	ENST00000483242	Transcript	.	.	ENSG00000182632	23495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CCNYL2	HGNC	.	.	.	SNV	CCNYL2,non_coding_transcript_exon_variant,,ENST00000483242,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000426433,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000472090,;	627	97	118	SUCCESS
PRKCQ	5588	.	GRCh37	10	6470193	6470193	+	synonymous_variant	Silent	SNP	G	G	T	rs777361364	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	34	157	0	ENST00000263125.5:c.2097C>A	p.Pro699=	p.P699=	ENST00000263125	NM_006257.3	699	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7079.1	2097	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGGGGTT	NONE	.	.	PROSITE_profiles:PS51285,hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,Pfam_domain:PF00433,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105	.	.	ENSP00000263125	.	18/18	.	.	.	.	.	.	.	.	rs777361364	18/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,synonymous_variant,p.%3D,ENST00000397176,;PRKCQ,synonymous_variant,p.%3D,ENST00000263125,;PRKCQ,synonymous_variant,p.%3D,ENST00000539722,;	2197	157	183	SUCCESS
LCOR	84458	.	GRCh37	10	98715171	98715171	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	23	143	0	ENST00000356016.3:c.796del	p.Glu266SerfsTer14	p.E266Sfs*14	ENST00000356016	NM_032440.3	265	tGg/tg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS7451.1	794	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTTGGGAGT	NONE	.	.	hmmpanther:PTHR21545	.	.	ENSP00000360138	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371097	Transcript	.	.	ENSG00000196233	29503	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LCOR_HUMAN	LCOR	HGNC	.	.	UPI0000160218	deletion	LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000371103,;LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000371097,;LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000356016,;LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000540664,;LCOR,intron_variant,,ENST00000463415,;LCOR,intron_variant,,ENST00000498444,;	1340	143	150	SUCCESS
ZBED5	58486	.	GRCh37	11	10875696	10875696	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1285492487	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	11	193	0	ENST00000413761.2:c.797G>C	p.Arg266Thr	p.R266T	ENST00000413761		266	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	.	797	MUTECT|MUSE	.	TCAGTCTACAA	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF86	.	.	ENSP00000398106	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000432999	Transcript	.	.	ENSG00000236287	30803	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.799)	.	deleterious(0.02)	.	ZBED5_HUMAN	ZBED5	HGNC	E9PNT1_HUMAN,E9PM71_HUMAN,E9PJT5_HUMAN,E9PJ57_HUMAN	.	UPI000013CCBF	SNV	ZBED5,missense_variant,p.Arg266Thr,ENST00000432999,;ZBED5,missense_variant,p.Arg266Thr,ENST00000413761,;ZBED5,downstream_gene_variant,,ENST00000528289,;ZBED5,downstream_gene_variant,,ENST00000534690,;ZBED5,downstream_gene_variant,,ENST00000526852,;ZBED5,downstream_gene_variant,,ENST00000526020,;ZBED5-AS1,upstream_gene_variant,,ENST00000529014,;ZBED5-AS1,upstream_gene_variant,,ENST00000501079,;ZBED5,intron_variant,,ENST00000533925,;ZBED5,intron_variant,,ENST00000525350,;ZBED5,downstream_gene_variant,,ENST00000530570,;	1296	193	196	SUCCESS
NXPE4	54827	.	GRCh37	11	114453455	114453455	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111330181	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	368	58	452	0	ENST00000375478.3:c.385C>T	p.Arg129Cys	p.R129C	ENST00000375478	NM_001077639.1	129	Cgc/Tgc	0	A:0	A:0.0008	.	A:0	.	A	R/C	protein_coding	YES	CCDS41718.1	385	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3,Gene3D:2.60.40.10,Superfamily_domains:SSF81296	A:0	A:0.0003	ENSP00000364627	A:0	3/6	.	.	.	.	.	.	.	.	rs111330181,COSM381866	3/6	PASS	ENST00000375478	Transcript	.	A:0.0002	ENSG00000137634	23117	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.025)	A:0	tolerated(0.2)	0,1	NXPE4_HUMAN	NXPE4	HGNC	.	.	UPI00000477F3	SNV	NXPE4,missense_variant,p.Arg129Cys,ENST00000375478,;NXPE4,intron_variant,,ENST00000424261,;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	566	452	426	SUCCESS
SLC37A4	2542	.	GRCh37	11	118896705	118896705	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782703235	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	13	117	0	ENST00000545985.1:c.956G>T	p.Arg319Leu	p.R319L	ENST00000545985	NM_001164277.1	319	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	.	956	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCGGAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF188,hmmpanther:PTHR11662,TIGRFAM_domain:TIGR00881,Pfam_domain:PF07690,Gene3D:1.20.1250.20,PIRSF_domain:PIRSF002808,Superfamily_domains:SSF103473	.	.	ENSP00000476176	.	9/12	.	.	.	.	.	.	.	.	rs782703235	9/12	PASS	ENST00000357590	Transcript	.	.	ENSG00000137700	4061	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.066)	.	tolerated(0.2)	.	.	SLC37A4	HGNC	U3KQS2_HUMAN	.	UPI0003903FB9	SNV	SLC37A4,missense_variant,p.Arg246Leu,ENST00000538950,;SLC37A4,missense_variant,p.Arg319Leu,ENST00000357590,;SLC37A4,missense_variant,p.Arg318Leu,ENST00000330775,;SLC37A4,missense_variant,p.Arg319Leu,ENST00000545985,;TRAPPC4,downstream_gene_variant,,ENST00000533632,;TRAPPC4,downstream_gene_variant,,ENST00000533058,;TRAPPC4,downstream_gene_variant,,ENST00000528230,;TRAPPC4,downstream_gene_variant,,ENST00000434101,;TRAPPC4,downstream_gene_variant,,ENST00000359005,;TRAPPC4,downstream_gene_variant,,ENST00000525303,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000525102,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000529510,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000527992,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000525372,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000525039,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000530407,;SLC37A4,downstream_gene_variant,,ENST00000526626,;TRAPPC4,downstream_gene_variant,,ENST00000526141,;SLC37A4,downstream_gene_variant,,ENST00000534384,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000526275,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000532085,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000524428,;TRAPPC4,downstream_gene_variant,,ENST00000525079,;TRAPPC4,downstream_gene_variant,,ENST00000533012,;TRAPPC4,downstream_gene_variant,,ENST00000524797,;TRAPPC4,downstream_gene_variant,,ENST00000531290,;TRAPPC4,downstream_gene_variant,,ENST00000533149,;SLC37A4,downstream_gene_variant,,ENST00000525787,;SLC37A4,downstream_gene_variant,,ENST00000532888,;	1397	117	112	SUCCESS
ZNF202	7753	.	GRCh37	11	123598880	123598880	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	12	205	0	ENST00000336139.4:c.793T>C	p.Tyr265His	p.Y265H	ENST00000336139		265	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS8443.1	793	MUTECT|MUSE	.	GACATATTCTC	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194,PROSITE_profiles:PS50805	.	.	ENSP00000337724	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.29)	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,missense_variant,p.Tyr265His,ENST00000529691,;ZNF202,missense_variant,p.Tyr265His,ENST00000336139,;ZNF202,missense_variant,p.Tyr265His,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	1156	205	221	SUCCESS
ZNF202	7753	.	GRCh37	11	123600353	123600353	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	115	0	ENST00000336139.4:c.583G>T	p.Glu195Ter	p.E195*	ENST00000336139		195	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8443.1	583	MUTECT|MUSE|VARSCANS	.	CTCTTCCTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	.	.	ENSP00000337724	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,stop_gained,p.Glu195Ter,ENST00000529691,;ZNF202,stop_gained,p.Glu195Ter,ENST00000336139,;ZNF202,stop_gained,p.Glu195Ter,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	946	115	107	SUCCESS
OTOG	340990	.	GRCh37	11	17632361	17632361	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	51	0	ENST00000399391.2:c.5550G>T	p.Thr1850=	p.T1850=	ENST00000399391	NM_001277269.1	1850	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS59225.1	5550	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGACTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339	.	.	ENSP00000382323	.	35/55	.	.	.	.	.	.	.	.	.	35/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,synonymous_variant,p.%3D,ENST00000399397,;OTOG,synonymous_variant,p.%3D,ENST00000342528,;OTOG,synonymous_variant,p.%3D,ENST00000399391,;	5550	51	60	SUCCESS
ANO5	203859	.	GRCh37	11	22297639	22297639	+	splice_acceptor_variant	Splice_Site	DEL	G	G	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	20	182	0	ENST00000324559.8:c.2415del		p.X805_splice	ENST00000324559	NM_001142649.1	805		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31444.1	.	INDELOCATOR|VARSCANI	.	TTTTCAGGTACA	NONE	.	.	.	.	.	ENSP00000315371	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324559	Transcript	.	.	ENSG00000171714	27337	1	.	HIGH	20/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANO5_HUMAN	ANO5	HGNC	.	.	UPI000035B19B	deletion	ANO5,splice_acceptor_variant,p.Arg805SerfsTer29,ENST00000324559,;ANO5,splice_acceptor_variant,,ENST00000532043,;	.	182	257	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137653	40137653	+	synonymous_variant	Silent	SNP	G	G	T	rs768399802	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	18	143	0	ENST00000278198.2:c.190C>A	p.Arg64=	p.R64=	ENST00000278198		64	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31464.1	190	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCGAACAC	NONE	byFrequency	.	hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	rs768399802	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,synonymous_variant,p.%3D,ENST00000528697,;LRRC4C,synonymous_variant,p.%3D,ENST00000278198,;LRRC4C,synonymous_variant,p.%3D,ENST00000530763,;LRRC4C,synonymous_variant,p.%3D,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2154	143	141	SUCCESS
OR52R1	119695	.	GRCh37	11	4825512	4825512	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	20	137	0	ENST00000356069.2:c.99G>T	p.Pro33=	p.P33=	ENST00000356069	NM_001005177.3	33	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31360.2	99	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACGGAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000348368	.	1/1	.	.	.	.	.	.	.	.	COSM429092,COSM429091	1/1	PASS	ENST00000356069	Transcript	.	.	ENSG00000176937	15235	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	O52R1_HUMAN	OR52R1	HGNC	.	.	UPI0000140D5C	SNV	OR52R1,synonymous_variant,p.%3D,ENST00000380382,;OR52R1,synonymous_variant,p.%3D,ENST00000356069,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	99	138	124	SUCCESS
OR4A15	81328	.	GRCh37	11	55135486	55135486	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	31	233	0	ENST00000314706.3:c.127T>C	p.Leu43=	p.L43=	ENST00000314706	NM_001005275.1	43	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31500.1	127	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTTAGGG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,synonymous_variant,p.%3D,ENST00000314706,;	127	233	200	SUCCESS
OR5T2	219464	.	GRCh37	11	55999981	55999981	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	511	82	582	0	ENST00000313264.4:c.681T>G	p.Ser227=	p.S227=	ENST00000313264	NM_001004746.1	227	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31523.1	681	RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGAAAT	SITE|p.S227S|c.681T>G|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	COSM1260537,COSM360757,COSM1260538	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	.	.	.	1,1,1	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,synonymous_variant,p.%3D,ENST00000313264,;	757	583	594	SUCCESS
TRIM49	57093	.	GRCh37	11	89537604	89537604	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	24	180	0	ENST00000329758.1:c.34del	p.Glu12AsnfsTer8	p.E12Nfs*8	ENST00000329758	NM_020358.2	12	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS8287.1	34	INDELOCATOR|VARSCANI	.	TGAGTTCCCCCT	NONE	.	.	hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000327604	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000329758	Transcript	.	.	ENSG00000168930	13431	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI49_HUMAN	TRIM49	HGNC	I1YAQ5_HUMAN	.	UPI000013431B	deletion	TRIM49,frameshift_variant,p.Glu12AsnfsTer8,ENST00000532501,;TRIM49,frameshift_variant,p.Glu12AsnfsTer8,ENST00000329758,;	363	180	192	SUCCESS
ALDH1L2	160428	.	GRCh37	12	105464456	105464456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	53	268	0	ENST00000258494.9:c.320T>C	p.Phe107Ser	p.F107S	ENST00000258494	NM_001034173.3	107	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS31891.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGAAAGGG	NONE	.	.	Gene3D:3.40.50.170,Pfam_domain:PF00551,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53328	.	.	ENSP00000258494	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000258494	Transcript	.	.	ENSG00000136010	26777	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	deleterious_low_confidence(0.02)	.	AL1L2_HUMAN	ALDH1L2	HGNC	.	.	UPI00000477A9	SNV	ALDH1L2,missense_variant,p.Phe107Ser,ENST00000424857,;ALDH1L2,missense_variant,p.Phe107Ser,ENST00000258494,;RP11-61E11.1,upstream_gene_variant,,ENST00000547750,;ALDH1L2,missense_variant,p.Phe107Ser,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000552427,;ALDH1L2,upstream_gene_variant,,ENST00000549335,;	461	268	299	SUCCESS
DNAH10	196385	.	GRCh37	12	124387605	124387605	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745751274	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	96	0	ENST00000409039.3:c.9406G>A	p.Glu3136Lys	p.E3136K	ENST00000409039	NM_207437.3	3136	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9255.2	9406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGAGGCC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000386770	.	56/78	.	.	.	.	.	.	.	.	rs745751274	56/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Glu3136Lys,ENST00000409039,;	9431	96	89	SUCCESS
OVCH1	341350	.	GRCh37	12	29617463	29617463	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	18	139	0	ENST00000318184.5:c.2102C>A	p.Thr701Asn	p.T701N	ENST00000318184	NM_183378.2	701	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	.	2102	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGGTCACA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000326708	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,missense_variant,p.Thr701Asn,ENST00000318184,;OVCH1-AS1,3_prime_UTR_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	2102	139	132	SUCCESS
KIAA1551	0	.	GRCh37	12	32137832	32137832	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	20	112	0	ENST00000312561.4:c.3943G>T	p.Glu1315Ter	p.E1315*	ENST00000312561	NM_018169.3	1315	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS8725.2	3943	RADIA|MUTECT|MUSE|VARSCANS	.	CTTATGAACAA	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,stop_gained,p.Glu1315Ter,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	4357	112	148	SUCCESS
KIF21A	55605	.	GRCh37	12	39726715	39726715	+	synonymous_variant	Silent	SNP	C	C	G	rs781262318	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	33	157	0	ENST00000361418.5:c.2682G>C	p.Thr894=	p.T894=	ENST00000361418		894	acG/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS53776.1	2682	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCGTTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398	.	.	ENSP00000354878	.	19/38	.	.	.	.	.	.	.	.	rs781262318	19/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,synonymous_variant,p.%3D,ENST00000552961,;KIF21A,synonymous_variant,p.%3D,ENST00000361418,;KIF21A,synonymous_variant,p.%3D,ENST00000544797,;KIF21A,synonymous_variant,p.%3D,ENST00000395670,;KIF21A,synonymous_variant,p.%3D,ENST00000541463,;KIF21A,synonymous_variant,p.%3D,ENST00000361961,;KIF21A,upstream_gene_variant,,ENST00000551264,;KIF21A,upstream_gene_variant,,ENST00000551066,;KIF21A,upstream_gene_variant,,ENST00000552475,;KIF21A,synonymous_variant,p.%3D,ENST00000547108,;KIF21A,downstream_gene_variant,,ENST00000546817,;	2698	157	166	SUCCESS
KMT2D	8085	.	GRCh37	12	49443882	49443882	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	20	106	0	ENST00000301067.7:c.3489G>T	p.Val1163=	p.V1163=	ENST00000301067	NM_003482.3	1163	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44873.1	3489	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCACAGG	NONE	.	.	.	.	.	ENSP00000301067	.	11/54	.	.	.	.	.	.	.	.	.	11/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000547610,;	3489	106	132	SUCCESS
BCDIN3D	144233	.	GRCh37	12	50236856	50236856	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	46	0	ENST00000333924.4:c.15G>T	p.Thr5=	p.T5=	ENST00000333924	NM_181708.2	5	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8790.1	15	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCGTGGG	NONE	.	.	.	.	.	ENSP00000335201	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000333924	Transcript	.	.	ENSG00000186666	27050	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BN3D2_HUMAN	BCDIN3D	HGNC	.	.	UPI0000160802	SNV	BCDIN3D,synonymous_variant,p.%3D,ENST00000333924,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;	57	46	64	SUCCESS
KRT5	3852	.	GRCh37	12	52910560	52910560	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs757760193	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	27	169	1	ENST00000252242.4:c.1300G>T	p.Glu434Ter	p.E434*	ENST00000252242	NM_000424.3	434	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8830.1	1300	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCGGCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF159,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000252242	.	7/9	.	.	.	.	.	.	.	.	rs757760193	7/9	PASS	ENST00000252242	Transcript	.	.	ENSG00000186081	6442	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K2C5_HUMAN	KRT5	HGNC	Q9UEK9_HUMAN,F8VV57_HUMAN,B4DL32_HUMAN	.	UPI000013CD4B	SNV	KRT5,stop_gained,p.Glu142Ter,ENST00000548409,;KRT5,stop_gained,p.Glu434Ter,ENST00000252242,;KRT5,downstream_gene_variant,,ENST00000551275,;KRT5,downstream_gene_variant,,ENST00000551188,;KRT5,downstream_gene_variant,,ENST00000549420,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,non_coding_transcript_exon_variant,,ENST00000547890,;KRT5,non_coding_transcript_exon_variant,,ENST00000549511,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,downstream_gene_variant,,ENST00000551013,;KRT5,upstream_gene_variant,,ENST00000552952,;	1691	170	183	SUCCESS
SLC2A14	144195	.	GRCh37	12	7981450	7981450	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	25	193	0	ENST00000396589.2:c.595G>T	p.Glu199Ter	p.E199*	ENST00000396589	NM_153449.2	199	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8585.1	595	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTCCAGAC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473	.	.	ENSP00000440480	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000543909	Transcript	.	.	ENSG00000173262	18301	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GTR14_HUMAN	SLC2A14	HGNC	F5H6F6_HUMAN,F5GXP7_HUMAN	.	UPI000006D325	SNV	SLC2A14,stop_gained,p.Glu90Ter,ENST00000535295,;SLC2A14,stop_gained,p.Glu199Ter,ENST00000396589,;SLC2A14,stop_gained,p.Glu176Ter,ENST00000431042,;SLC2A14,stop_gained,p.Glu214Ter,ENST00000539924,;SLC2A14,stop_gained,p.Glu199Ter,ENST00000543909,;SLC2A14,stop_gained,p.Glu176Ter,ENST00000340749,;SLC2A14,stop_gained,p.Glu90Ter,ENST00000542546,;SLC2A14,intron_variant,,ENST00000542505,;SLC2A14,downstream_gene_variant,,ENST00000542916,;SLC2A14,downstream_gene_variant,,ENST00000535587,;SLC2A14,downstream_gene_variant,,ENST00000542782,;SLC2A14,downstream_gene_variant,,ENST00000535344,;SLC2A14,downstream_gene_variant,,ENST00000535266,;SLC2A14,downstream_gene_variant,,ENST00000535383,;SLC2A14,downstream_gene_variant,,ENST00000546234,;SLC2A14,downstream_gene_variant,,ENST00000537557,;SLC2A14,downstream_gene_variant,,ENST00000536594,;SLC2A14,downstream_gene_variant,,ENST00000539738,;	1355	193	194	SUCCESS
PPFIA2	8499	.	GRCh37	12	81763113	81763113	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	10	0	ENST00000549396.1:c.1267-140C>A		p.*423*	ENST00000549396	NM_003625.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55857.1	.	MUTECT|MUSE	.	AACAGGCAGCT	NONE	.	.	.	.	.	ENSP00000450337	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODIFIER	11/32	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,5_prime_UTR_variant,,ENST00000541570,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,;PPFIA2,5_prime_UTR_variant,,ENST00000553058,;PPFIA2,5_prime_UTR_variant,,ENST00000548670,;PPFIA2,intron_variant,,ENST00000333447,;PPFIA2,intron_variant,,ENST00000407050,;PPFIA2,intron_variant,,ENST00000443686,;PPFIA2,intron_variant,,ENST00000549325,;PPFIA2,intron_variant,,ENST00000550584,;PPFIA2,intron_variant,,ENST00000552948,;PPFIA2,intron_variant,,ENST00000548790,;PPFIA2,intron_variant,,ENST00000550359,;PPFIA2,intron_variant,,ENST00000549396,;PPFIA2,intron_variant,,ENST00000548586,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,5_prime_UTR_variant,,ENST00000551461,;	.	10	23	SUCCESS
LTA4H	4048	.	GRCh37	12	96406996	96406996	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	20	139	0	ENST00000228740.2:c.1349A>C	p.Tyr450Ser	p.Y450S	ENST00000228740	NM_000895.2	450	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS9059.1	1349	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTAGAGC	NONE	.	.	hmmpanther:PTHR11533:SF4,hmmpanther:PTHR11533,TIGRFAM_domain:TIGR02411,Gene3D:1.10.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000228740	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000228740	Transcript	.	.	ENSG00000111144	6710	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.3)	.	LKHA4_HUMAN	LTA4H	HGNC	Q49AK0_HUMAN	.	UPI0000111C40	SNV	LTA4H,missense_variant,p.Tyr450Ser,ENST00000228740,;LTA4H,missense_variant,p.Tyr426Ser,ENST00000552789,;LTA4H,missense_variant,p.Tyr426Ser,ENST00000413268,;RP11-256L6.3,downstream_gene_variant,,ENST00000551849,;LTA4H,non_coding_transcript_exon_variant,,ENST00000548375,;LTA4H,3_prime_UTR_variant,,ENST00000548852,;LTA4H,non_coding_transcript_exon_variant,,ENST00000547982,;LTA4H,non_coding_transcript_exon_variant,,ENST00000553041,;LTA4H,non_coding_transcript_exon_variant,,ENST00000547393,;LTA4H,upstream_gene_variant,,ENST00000537111,;LTA4H,downstream_gene_variant,,ENST00000552091,;	1491	139	147	SUCCESS
SACS	26278	.	GRCh37	13	23904756	23904756	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758721847	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	31	125	0	ENST00000382292.3:c.13259G>T	p.Cys4420Phe	p.C4420F	ENST00000382292		4420	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS9300.2	13259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCATTTT	NONE	byFrequency	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	rs758721847	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Cys4420Phe,ENST00000382292,;SACS,missense_variant,p.Cys3670Phe,ENST00000402364,;SACS,missense_variant,p.Cys4420Phe,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	13848	125	138	SUCCESS
RB1	5925	.	GRCh37	13	49030478	49030479	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1566234123	.	TCGA-DD-A114-01	TCGA-DD-A114-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	47	0	ENST00000267163.4:c.1959dup	p.Val654SerfsTer14	p.V654Sfs*14	ENST00000267163	NM_000321.2	651	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS31973.1	1953-1954	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTATAAAAA	NONE	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01857,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Val654SerfsTer14,ENST00000267163,;RB1,downstream_gene_variant,,ENST00000480491,;	2091-2092	47	80	SUCCESS
COMMD6	170622	.	GRCh37	13	76111799	76111799	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	55	0	ENST00000377615.3:c.54+1G>T		p.X18_splice	ENST00000377615	NM_001287394.1	18		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9452.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACCTGGT	NONE	.	.	.	.	.	ENSP00000348054	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355801	Transcript	.	.	ENSG00000188243	24015	.	.	HIGH	2/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COMD6_HUMAN	COMMD6	HGNC	.	.	UPI000034ECDC	SNV	COMMD6,splice_donor_variant,,ENST00000406936,;COMMD6,splice_donor_variant,,ENST00000355801,;COMMD6,splice_donor_variant,,ENST00000377615,;COMMD6,upstream_gene_variant,,ENST00000377619,;COMMD6,splice_donor_variant,,ENST00000486516,;COMMD6,splice_donor_variant,,ENST00000497707,;COMMD6,non_coding_transcript_exon_variant,,ENST00000471682,;COMMD6,intron_variant,,ENST00000460675,;COMMD6,splice_donor_variant,,ENST00000477377,;COMMD6,splice_donor_variant,,ENST00000464050,;COMMD6,intron_variant,,ENST00000377612,;	.	55	72	SUCCESS
SLITRK6	84189	.	GRCh37	13	86370026	86370026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	114	0	ENST00000400286.2:c.618C>A	p.His206Gln	p.H206Q	ENST00000400286	NM_032229.2	206	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS41903.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGTGTTC	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	SNV	SLITRK6,missense_variant,p.His206Gln,ENST00000400286,;	1217	114	125	SUCCESS
CDC42BPB	9578	.	GRCh37	14	103430853	103430853	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781226769	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	51	0	ENST00000361246.2:c.2712C>A	p.Asn904Lys	p.N904K	ENST00000361246	NM_006035.3	904	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS9978.1	2712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGTTGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30,Pfam_domain:PF08826,Gene3D:1.20.5.340	.	.	ENSP00000355237	.	19/37	.	.	.	.	.	.	.	.	rs781226769	19/37	PASS	ENST00000361246	Transcript	.	.	ENSG00000198752	1738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	tolerated(0.28)	.	MRCKB_HUMAN	CDC42BPB	HGNC	.	.	UPI000013D27E	SNV	CDC42BPB,missense_variant,p.Asn178Lys,ENST00000559043,;CDC42BPB,missense_variant,p.Asn904Lys,ENST00000361246,;	3001	51	55	SUCCESS
MYH7	4625	.	GRCh37	14	23889251	23889251	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	33	0	ENST00000355349.3:c.3529del	p.Asp1177ThrfsTer37	p.D1177Tfs*37	ENST00000355349	NM_000257.2	1177	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS9601.1	3529	INDELOCATOR|VARSCANI	.	CCAGGTCCCGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000347507	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	deletion	MYH7,frameshift_variant,p.Asp1177ThrfsTer37,ENST00000355349,;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;	3692	33	69	SUCCESS
SYT16	83851	.	GRCh37	14	62551067	62551067	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	75	0	ENST00000430451.2:c.1588A>T	p.Ser530Cys	p.S530C	ENST00000430451	NM_031914.2	530	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45121.1	1588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGCCAT	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	.	ENSP00000394700	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,missense_variant,p.Ser530Cys,ENST00000430451,;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	1785	75	102	SUCCESS
SLC24A4	123041	.	GRCh37	14	92949118	92949118	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs563681958	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	17	126	0	ENST00000532405.1:c.1350G>T	p.Glu450Asp	p.E450D	ENST00000532405		450	gaG/gaT	0	.	A:0	.	A:0	.	T	E/D	protein_coding	YES	CCDS9903.2	1350	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGAAGTT	NONE	by1000G	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF21,TIGRFAM_domain:TIGR00367	A:0	.	ENSP00000431840	A:0	13/17	.	.	.	.	.	.	.	.	rs563681958	13/17	PASS	ENST00000532405	Transcript	1	A:0.0002	ENSG00000140090	10978	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.516)	A:0.001	tolerated(0.07)	.	NCKX4_HUMAN	SLC24A4	HGNC	G3V505_HUMAN,B4DHR5_HUMAN	.	UPI000044C5DE	SNV	SLC24A4,missense_variant,p.Glu431Asp,ENST00000531433,;SLC24A4,missense_variant,p.Glu316Asp,ENST00000525557,;SLC24A4,missense_variant,p.Glu386Asp,ENST00000393265,;SLC24A4,missense_variant,p.Glu414Asp,ENST00000351924,;SLC24A4,missense_variant,p.Glu433Asp,ENST00000298877,;SLC24A4,missense_variant,p.Glu450Asp,ENST00000532405,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000526482,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000554925,;	1576	126	116	SUCCESS
IGHV4OR15-8	28317	.	GRCh37	15	22473044	22473044	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749413483	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	840	39	1099	0	ENST00000557788.2:c.227G>A	p.Ser76Asn	p.S76N	ENST00000557788		76	aGc/aAc	0	.	.	.	.	.	T	S/N	IG_V_gene	YES	.	227	MUTECT|MUSE	.	TGGGGCTCCCA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000473987	.	2/2	.	.	.	.	.	.	.	.	rs749413483	2/2	PASS	ENST00000557788	Transcript	.	.	ENSG00000259261	5658	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.24)	.	IV4F8_HUMAN	IGHV4OR15-8	HGNC	.	.	UPI0003335098	SNV	IGHV4OR15-8,missense_variant,p.Ser76Asn,ENST00000557788,;	227	1099	880	SUCCESS
DUT	1854	.	GRCh37	15	48634006	48634006	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	14	0	ENST00000331200.3:c.703-213A>G		p.*235*	ENST00000331200	NM_001025248.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32231.1	.	MUTECT|MUSE|VARSCANS	.	CTGTGAACTTC	NONE	.	.	.	.	.	ENSP00000370376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331200	Transcript	.	.	ENSG00000128951	3078	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUT_HUMAN	DUT	HGNC	.	.	UPI000035ECE0	SNV	DUT,3_prime_UTR_variant,,ENST00000559540,;DUT,intron_variant,,ENST00000558813,;DUT,intron_variant,,ENST00000455976,;DUT,intron_variant,,ENST00000331200,;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000558367,;DUT,downstream_gene_variant,,ENST00000559935,;DUT,downstream_gene_variant,,ENST00000561350,;DUT,intron_variant,,ENST00000559852,;DUT,intron_variant,,ENST00000558978,;	.	14	20	SUCCESS
SMG1	23049	.	GRCh37	16	18887682	18887682	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1224633517	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	60	279	0	ENST00000446231.2:c.1654G>A	p.Val552Met	p.V552M	ENST00000446231		552	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45430.1	1654	RADIA|MUSE|VARSCANS	.	GAGCACTGCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	.	.	ENSP00000402515	.	13/63	.	.	.	.	.	.	.	.	.	13/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.034)	.	deleterious(0.03)	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,missense_variant,p.Val526Met,ENST00000565224,;SMG1,missense_variant,p.Val442Met,ENST00000565324,;SMG1,missense_variant,p.Val470Met,ENST00000561947,;SMG1,missense_variant,p.Val552Met,ENST00000446231,;SMG1,missense_variant,p.Val552Met,ENST00000389467,;SMG1,upstream_gene_variant,,ENST00000563235,;SMG1,non_coding_transcript_exon_variant,,ENST00000568239,;SMG1,upstream_gene_variant,,ENST00000568038,;	2067	279	270	SUCCESS
TSC2	7249	.	GRCh37	16	2098719	2098719	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs137854105	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	53	205	0	ENST00000219476.3:c.103C>T	p.Gln35Ter	p.Q35*	ENST00000219476	NM_000548.3	35	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10458.1	103	RADIA|MUTECT|MUSE|VARSCANS	not_provided	GTAAACAGACG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	.	.	ENSP00000219476	.	2/42	.	.	.	.	.	.	.	.	rs137854105	2/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Gln35Ter,ENST00000439673,;TSC2,stop_gained,p.Gln35Ter,ENST00000219476,;TSC2,stop_gained,p.Gln46Ter,ENST00000568454,;TSC2,stop_gained,p.Gln35Ter,ENST00000401874,;TSC2,stop_gained,p.Gln35Ter,ENST00000353929,;TSC2,stop_gained,p.Gln35Ter,ENST00000350773,;TSC2,intron_variant,,ENST00000382538,;NTHL1,upstream_gene_variant,,ENST00000566380,;NTHL1,upstream_gene_variant,,ENST00000219066,;TSC2,upstream_gene_variant,,ENST00000432909,;NTHL1,upstream_gene_variant,,ENST00000562951,;TSC2,stop_gained,p.Gln35Ter,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000461648,;NTHL1,upstream_gene_variant,,ENST00000562120,;NTHL1,upstream_gene_variant,,ENST00000568513,;NTHL1,upstream_gene_variant,,ENST00000561841,;NTHL1,upstream_gene_variant,,ENST00000565406,;NTHL1,upstream_gene_variant,,ENST00000567727,;	733	205	234	SUCCESS
MLST8	64223	.	GRCh37	16	2256103	2256103	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	76	0	ENST00000397124.1:c.17G>C	p.Gly6Ala	p.G6A	ENST00000397124	NM_001199174.1	6	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS10462.2	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCACGG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19842	.	.	ENSP00000456405	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000569417	Transcript	.	.	ENSG00000167965	24825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious_low_confidence(0.02)	.	LST8_HUMAN	MLST8	HGNC	H3BQ74_HUMAN,H3BN58_HUMAN	.	UPI000006D8E8	SNV	MLST8,missense_variant,p.Gly25Ala,ENST00000301725,;MLST8,missense_variant,p.Gly6Ala,ENST00000562479,;MLST8,missense_variant,p.Gly6Ala,ENST00000569457,;MLST8,missense_variant,p.Gly6Ala,ENST00000563179,;MLST8,missense_variant,p.Gly6Ala,ENST00000397124,;MLST8,missense_variant,p.Gly6Ala,ENST00000564088,;MLST8,missense_variant,p.Gly6Ala,ENST00000301724,;MLST8,missense_variant,p.Gly6Ala,ENST00000562352,;MLST8,missense_variant,p.Gly6Ala,ENST00000569417,;MLST8,missense_variant,p.Gly6Ala,ENST00000565250,;MLST8,missense_variant,p.Gly6Ala,ENST00000382450,;BRICD5,downstream_gene_variant,,ENST00000328540,;BRICD5,downstream_gene_variant,,ENST00000566018,;BRICD5,downstream_gene_variant,,ENST00000562360,;AC009065.3,upstream_gene_variant,,ENST00000517149,;MLST8,non_coding_transcript_exon_variant,,ENST00000561651,;MLST8,non_coding_transcript_exon_variant,,ENST00000562844,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,upstream_gene_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,missense_variant,p.Gly6Ala,ENST00000563107,;MLST8,missense_variant,p.Gly6Ala,ENST00000567282,;MLST8,missense_variant,p.Gly6Ala,ENST00000565687,;MLST8,missense_variant,p.Gly6Ala,ENST00000567623,;MLST8,missense_variant,p.Gly6Ala,ENST00000570224,;MLST8,missense_variant,p.Gly6Ala,ENST00000566835,;MLST8,missense_variant,p.Gly6Ala,ENST00000562851,;MLST8,missense_variant,p.Gly6Ala,ENST00000565717,;MLST8,non_coding_transcript_exon_variant,,ENST00000566653,;MLST8,non_coding_transcript_exon_variant,,ENST00000564294,;MLST8,non_coding_transcript_exon_variant,,ENST00000568194,;MLST8,non_coding_transcript_exon_variant,,ENST00000564679,;MLST8,non_coding_transcript_exon_variant,,ENST00000567928,;MLST8,non_coding_transcript_exon_variant,,ENST00000565330,;MLST8,non_coding_transcript_exon_variant,,ENST00000565269,;MLST8,non_coding_transcript_exon_variant,,ENST00000568542,;MLST8,non_coding_transcript_exon_variant,,ENST00000563067,;BRICD5,downstream_gene_variant,,ENST00000566795,;MLST8,upstream_gene_variant,,ENST00000569848,;MLST8,upstream_gene_variant,,ENST00000562239,;MLST8,upstream_gene_variant,,ENST00000562392,;	371	76	86	SUCCESS
DPEP2	64174	.	GRCh37	16	68027109	68027109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	44	0	ENST00000393847.1:c.7C>A	p.Pro3Thr	p.P3T	ENST00000393847	NM_022355.3	3	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS10857.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCTGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10443:SF9,hmmpanther:PTHR10443	.	.	ENSP00000412549	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000412757	Transcript	.	.	ENSG00000167261	23028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.11)	.	DPEP2_HUMAN	DPEP2	HGNC	I3L4H3_HUMAN,I3L348_HUMAN	.	UPI000013D7DC	SNV	DPEP2,missense_variant,p.Pro3Thr,ENST00000574865,;DPEP2,missense_variant,p.Pro3Thr,ENST00000572888,;DPEP2,missense_variant,p.Pro3Thr,ENST00000393847,;DPEP2,missense_variant,p.Pro3Thr,ENST00000572624,;DPEP2,missense_variant,p.Pro3Thr,ENST00000412757,;DUS2,intron_variant,,ENST00000571081,;DUS2,intron_variant,,ENST00000570709,;DPEP2,intron_variant,,ENST00000573808,;DPEP2,intron_variant,,ENST00000575510,;DUS2,upstream_gene_variant,,ENST00000575677,;DPEP2,missense_variant,p.Pro3Thr,ENST00000575203,;DPEP2,non_coding_transcript_exon_variant,,ENST00000574316,;DPEP2,non_coding_transcript_exon_variant,,ENST00000268795,;	673	44	61	SUCCESS
PLCG2	5336	.	GRCh37	16	81927388	81927388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	80	0	ENST00000359376.3:c.1061G>T	p.Arg354Leu	p.R354L	ENST00000359376	NM_002661.3	354	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS42204.1	1061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGCTGCA	NONE	.	.	Prints_domain:PR00390,Superfamily_domains:SSF51695,PIRSF_domain:PIRSF000952,SMART_domains:SM00148,Gene3D:3.20.20.190,Pfam_domain:PF00388,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,PROSITE_profiles:PS50007	.	.	ENSP00000352336	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000359376	Transcript	.	.	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Arg354Leu,ENST00000359376,;PLCG2,missense_variant,p.Arg124Leu,ENST00000563193,;PLCG2,non_coding_transcript_exon_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,intron_variant,,ENST00000563375,;PLCG2,upstream_gene_variant,,ENST00000570198,;	1275	80	61	SUCCESS
PHF12	57649	.	GRCh37	17	27251239	27251239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	40	149	0	ENST00000332830.4:c.403G>T	p.Asp135Tyr	p.D135Y	ENST00000332830	NM_001033561.1	135	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS32598.1	403	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCACTGC	NONE	.	.	hmmpanther:PTHR24102:SF16,hmmpanther:PTHR24102	.	.	ENSP00000329933	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000332830	Transcript	.	.	ENSG00000109118	20816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.862)	.	deleterious(0.01)	.	PHF12_HUMAN	PHF12	HGNC	K7ERZ4_HUMAN,K7ENU0_HUMAN,K7EMX6_HUMAN	.	UPI0000197E05	SNV	PHF12,missense_variant,p.Asp135Tyr,ENST00000577226,;PHF12,missense_variant,p.Asp159Tyr,ENST00000584685,;PHF12,missense_variant,p.Asp135Tyr,ENST00000268756,;PHF12,missense_variant,p.Asp45Tyr,ENST00000578900,;PHF12,missense_variant,p.Asp135Tyr,ENST00000332830,;PHF12,missense_variant,p.Asp45Tyr,ENST00000582853,;PHF12,downstream_gene_variant,,ENST00000584236,;PHF12,downstream_gene_variant,,ENST00000583747,;RP11-20B24.5,upstream_gene_variant,,ENST00000592890,;RP11-20B24.5,upstream_gene_variant,,ENST00000580782,;RP11-20B24.5,upstream_gene_variant,,ENST00000582631,;PHF12,non_coding_transcript_exon_variant,,ENST00000483934,;PHF12,non_coding_transcript_exon_variant,,ENST00000582655,;PHF12,missense_variant,p.Asp135Tyr,ENST00000378879,;PHF12,non_coding_transcript_exon_variant,,ENST00000582436,;PHF12,intron_variant,,ENST00000583524,;PHF12,upstream_gene_variant,,ENST00000584822,;	1214	149	188	SUCCESS
MSL1	339287	.	GRCh37	17	38289863	38289868	+	inframe_deletion	In_Frame_Del	DEL	CAGGAA	CAGGAA	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	CAGGAA	CAGGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	121	0	ENST00000398532.4:c.1633_1638del	p.Gln545_Glu546del	p.Q545_E546del	ENST00000398532	NM_001012241.1	545	CAGGAA/-	0	.	.	.	.	.	-	QE/-	protein_coding	YES	CCDS45670.1	844-849	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAATTCAGGAATCTGA	NONE	.	.	hmmpanther:PTHR21656,Pfam_domain:PF15275	.	.	ENSP00000462945	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000579565	Transcript	.	.	ENSG00000188895	27905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSL1_HUMAN	MSL1	HGNC	B4DMT3_HUMAN,B3KWR7_HUMAN	.	UPI0000DBE498	deletion	MSL1,inframe_deletion,p.Gln529_Glu530del,ENST00000578648,;MSL1,inframe_deletion,p.Gln282_Glu283del,ENST00000579565,;MSL1,inframe_deletion,p.Gln545_Glu546del,ENST00000398532,;MSL1,downstream_gene_variant,,ENST00000577454,;MSL1,downstream_gene_variant,,ENST00000582920,;MSL1,non_coding_transcript_exon_variant,,ENST00000583127,;MSL1,non_coding_transcript_exon_variant,,ENST00000580086,;MSL1,non_coding_transcript_exon_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000581246,;MSL1,downstream_gene_variant,,ENST00000582884,;	1108-1113	121	94	SUCCESS
KRT33B	3884	.	GRCh37	17	39522752	39522752	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	114	0	ENST00000251646.3:c.558G>T	p.Glu186Asp	p.E186D	ENST00000251646	NM_002279.4	186	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11389.1	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	.	.	ENSP00000251646	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000251646	Transcript	.	.	ENSG00000131738	6451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.12)	.	KT33B_HUMAN	KRT33B	HGNC	.	.	UPI000012DAFE	SNV	KRT33B,missense_variant,p.Glu186Asp,ENST00000251646,;	608	114	90	SUCCESS
PLCD3	113026	.	GRCh37	17	43195840	43195840	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	59	83	0	ENST00000322765.5:c.933G>T	p.Met311Ile	p.M311I	ENST00000322765	NM_133373.3	311	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCATCAG	NONE	.	.	Superfamily_domains:SSF47473,Pfam_domain:PF09279,Gene3D:1.10.238.10,hmmpanther:PTHR10336:SF33,hmmpanther:PTHR10336	.	.	ENSP00000313731	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000322765	Transcript	.	.	ENSG00000161714	9061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0.01)	.	PLCD3_HUMAN	PLCD3	HGNC	.	.	UPI00015DFB4E	SNV	PLCD3,missense_variant,p.Met311Ile,ENST00000322765,;PLCD3,intron_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000539433,;PLCD3,downstream_gene_variant,,ENST00000538093,;PLCD3,downstream_gene_variant,,ENST00000590644,;PLCD3,non_coding_transcript_exon_variant,,ENST00000540511,;PLCD3,downstream_gene_variant,,ENST00000544446,;PLCD3,upstream_gene_variant,,ENST00000543623,;PLCD3,upstream_gene_variant,,ENST00000545702,;PLCD3,non_coding_transcript_exon_variant,,ENST00000546350,;PLCD3,non_coding_transcript_exon_variant,,ENST00000542173,;PLCD3,upstream_gene_variant,,ENST00000544333,;PLCD3,upstream_gene_variant,,ENST00000412978,;	1047	84	153	SUCCESS
MTMR4	9110	.	GRCh37	17	56582859	56582859	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	21	104	0	ENST00000323456.5:c.1077G>T	p.Val359=	p.V359=	ENST00000323456	NM_004687.4	359	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11608.1	1077	RADIA|MUTECT|MUSE|VARSCANS	.	CTACACACAGC	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000325285	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,synonymous_variant,p.%3D,ENST00000323456,;MTMR4,synonymous_variant,p.%3D,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000583966,;MTMR4,downstream_gene_variant,,ENST00000580983,;MTMR4,downstream_gene_variant,,ENST00000582663,;	1202	104	128	SUCCESS
AXIN2	8313	.	GRCh37	17	63532595	63532595	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	55	0	ENST00000307078.5:c.1984C>T	p.Leu662=	p.L662=	ENST00000307078	NM_004655.3	662	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11662.1	1984	RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGATGGT	BUFFER|p.N666fs*41|c.1994_1995insG|4,BUFFER|p.G665fs*24|c.1994delG|3	.	.	.	.	.	ENSP00000302625	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,synonymous_variant,p.%3D,ENST00000375702,;AXIN2,synonymous_variant,p.%3D,ENST00000307078,;AXIN2,non_coding_transcript_exon_variant,,ENST00000578251,;CTD-2535L24.2,downstream_gene_variant,,ENST00000577662,;	2298	55	103	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	163	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	163	142	SUCCESS
KIAA1328	57536	.	GRCh37	18	34647292	34647292	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs531868906	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	331	60	453	0	ENST00000280020.5:c.1016G>C	p.Arg339Pro	p.R339P	ENST00000280020	NM_020776.1	339	cGg/cCg	0	.	A:0.0008	.	A:0	.	C	R/P	protein_coding	YES	CCDS45855.1	1016	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCGGCTTT	NONE	by1000G	.	Pfam_domain:PF15369	A:0	.	ENSP00000280020	A:0	7/10	.	.	.	.	.	.	.	.	rs531868906,COSM4072105,COSM359201,COSM4072107,COSM4072106	7/10	PASS	ENST00000280020	Transcript	.	A:0.0002	ENSG00000150477	29248	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1,1	.	.	benign(0.239)	A:0	tolerated(0.23)	0,1,1,1,1	K1328_HUMAN	KIAA1328	HGNC	.	.	UPI00001C1FF0	SNV	KIAA1328,missense_variant,p.Arg231Pro,ENST00000543923,;KIAA1328,missense_variant,p.Arg55Pro,ENST00000435985,;KIAA1328,missense_variant,p.Arg327Pro,ENST00000587139,;KIAA1328,missense_variant,p.Arg335Pro,ENST00000591619,;KIAA1328,missense_variant,p.Arg339Pro,ENST00000280020,;KIAA1328,missense_variant,p.Arg55Pro,ENST00000586135,;KIAA1328,missense_variant,p.Arg55Pro,ENST00000586501,;KIAA1328,downstream_gene_variant,,ENST00000591911,;KIAA1328,upstream_gene_variant,,ENST00000599493,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;	1038	453	391	SUCCESS
EPG5	57724	.	GRCh37	18	43460188	43460188	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	47	0	ENST00000282041.5:c.5519G>T	p.Ser1840Ile	p.S1840I	ENST00000282041	NM_020964.2	1840	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS11926.2	5519	MUTECT|MUSE	.	CGGAGCCTGCC	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	32/44	.	.	.	.	.	.	.	.	COSM1611245	32/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.975)	.	deleterious(0.01)	1	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,missense_variant,p.Ser1840Ile,ENST00000282041,;EPG5,splice_region_variant,,ENST00000585906,;EPG5,missense_variant,p.Ser715Ile,ENST00000592272,;EPG5,splice_region_variant,,ENST00000587884,;EPG5,splice_region_variant,,ENST00000590884,;	5554	47	52	SUCCESS
MC4R	4160	.	GRCh37	18	58039123	58039123	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	112	0	ENST00000299766.3:c.460G>T	p.Ala154Ser	p.A154S	ENST00000299766	NM_005912.2	154	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11976.1	460	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCATAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00534	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,missense_variant,p.Ala154Ser,ENST00000299766,;	879	112	88	SUCCESS
SERPINB4	6318	.	GRCh37	18	61308143	61308143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	349	65	455	0	ENST00000341074.5:c.434A>G	p.Lys145Arg	p.K145R	ENST00000341074	NM_002974.2	145	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS11986.1	434	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTTCGA	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000343445	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000341074	Transcript	.	.	ENSG00000206073	10570	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	tolerated(0.07)	.	SPB4_HUMAN	SERPINB4	HGNC	.	.	UPI0000038A1A	SNV	SERPINB4,missense_variant,p.Lys145Arg,ENST00000341074,;SERPINB4,missense_variant,p.Lys147Arg,ENST00000413673,;SERPINB4,missense_variant,p.Lys145Arg,ENST00000356424,;SERPINB4,missense_variant,p.Lys102Arg,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;	550	455	414	SUCCESS
L3MBTL4	91133	.	GRCh37	18	6138293	6138293	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	39	0	ENST00000284898.6:c.1099A>G	p.Thr367Ala	p.T367A	ENST00000284898	NM_173464.3	367	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11839.2	1099	RADIA|VARSCANS	.	ATTCGTTCCTT	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF78,Gene3D:2.30.30.160,Pfam_domain:PF02820,Superfamily_domains:SSF63748	.	.	ENSP00000284898	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000284898	Transcript	.	.	ENSG00000154655	26677	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.59)	.	LMBL4_HUMAN	L3MBTL4	HGNC	J3QLK8_HUMAN,J3KS41_HUMAN,J3KRN7_HUMAN	.	UPI000013DDC0	SNV	L3MBTL4,missense_variant,p.Thr367Ala,ENST00000317931,;L3MBTL4,missense_variant,p.Thr367Ala,ENST00000284898,;L3MBTL4,missense_variant,p.Thr367Ala,ENST00000400105,;L3MBTL4,missense_variant,p.Thr367Ala,ENST00000400104,;L3MBTL4,missense_variant,p.Thr180Ala,ENST00000535782,;	1300	39	39	SUCCESS
ZNF407	55628	.	GRCh37	18	72775861	72775861	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	63	0	ENST00000299687.5:c.6184C>T	p.Pro2062Ser	p.P2062S	ENST00000299687	NM_017757.2	2062	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45885.1	6184	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCCCTCA	NONE	.	.	.	.	.	ENSP00000299687	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	tolerated(0.08)	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,missense_variant,p.Pro2062Ser,ENST00000299687,;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	6184	63	71	SUCCESS
LDLR	3949	.	GRCh37	19	11213382	11213382	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146675823	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	34	185	0	ENST00000558518.1:c.233G>T	p.Arg78Leu	p.R78L	ENST00000558518	NM_001195798.1	78	cGt/cTt	0	A:0.0002	T:0	.	T:0	.	T	R/L	protein_coding	YES	CCDS12254.1	233	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGTGTCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	T:0	A:0	ENSP00000454071	T:0	3/18	.	.	.	.	.	.	.	.	rs146675823	3/18	PASS	ENST00000558518	Transcript	1	T:0.0002	ENSG00000130164	6547	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.249)	T:0.001	tolerated(0.12)	.	LDLR_HUMAN	LDLR	HGNC	Q6LCH2_HUMAN,E1B4S5_HUMAN	.	UPI00000015DF	SNV	LDLR,missense_variant,p.Arg78Leu,ENST00000558013,;LDLR,missense_variant,p.Arg78Leu,ENST00000545707,;LDLR,missense_variant,p.Arg78Leu,ENST00000455727,;LDLR,missense_variant,p.Arg163Leu,ENST00000252444,;LDLR,missense_variant,p.Arg78Leu,ENST00000558518,;LDLR,missense_variant,p.Arg78Leu,ENST00000557933,;LDLR,intron_variant,,ENST00000535915,;LDLR,upstream_gene_variant,,ENST00000560467,;LDLR,non_coding_transcript_exon_variant,,ENST00000557958,;LDLR,downstream_gene_variant,,ENST00000560502,;LDLR,upstream_gene_variant,,ENST00000558528,;	420	185	191	SUCCESS
ZNF536	9745	.	GRCh37	19	30935048	30935048	+	synonymous_variant	Silent	SNP	C	C	T	rs749435165	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	25	0	ENST00000355537.3:c.579C>T	p.Arg193=	p.R193=	ENST00000355537	NM_014717.1	193	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32984.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGCGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	rs749435165,COSM3970887,COSM1524903	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000585628,;ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	726	25	35	SUCCESS
DPY19L3	147991	.	GRCh37	19	32902324	32902324	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	30	130	0	ENST00000342179.5:c.237+46C>T		p.*79*	ENST00000342179	NM_207325.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12422.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCCAGTA	NONE	.	.	.	.	.	ENSP00000344937	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342179	Transcript	.	.	ENSG00000178904	27120	.	.	MODIFIER	3/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	D19L3_HUMAN	DPY19L3	HGNC	K7ELG1_HUMAN	.	UPI00001C10BE	SNV	DPY19L3,missense_variant,p.Pro95Ser,ENST00000587077,;DPY19L3,intron_variant,,ENST00000342179,;DPY19L3,intron_variant,,ENST00000392250,;DPY19L3,intron_variant,,ENST00000586427,;DPY19L3,intron_variant,,ENST00000586987,;DPY19L3,intron_variant,,ENST00000592503,;	.	130	164	SUCCESS
RYR1	6261	.	GRCh37	19	38974064	38974064	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	70	0	ENST00000359596.3:c.4842G>A	p.Val1614=	p.V1614=	ENST00000359596		1614	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33011.1	4842	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGGAGAC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	33/106	.	.	.	.	.	.	.	.	COSM3533412	33/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;	4842	70	60	SUCCESS
CEACAM4	1089	.	GRCh37	19	42132051	42132051	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199959927	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	427	94	446	0	ENST00000221954.2:c.348C>A	p.Asp116Glu	p.D116E	ENST00000221954	NM_001817.2	116	gaC/gaA	0	.	A:0.0008	.	A:0	.	T	D/E	protein_coding	YES	CCDS33033.1	348	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCCTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	A:0	.	ENSP00000221954	A:0	2/7	.	.	.	.	.	.	.	.	rs199959927,COSM2150367	2/7	PASS	ENST00000221954	Transcript	.	A:0.0002	ENSG00000105352	1816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.994)	A:0	deleterious(0)	0,1	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	SNV	CEACAM4,missense_variant,p.Asp116Glu,ENST00000221954,;CEACAM4,missense_variant,p.Asp116Glu,ENST00000600925,;CEACAM4,non_coding_transcript_exon_variant,,ENST00000472081,;	459	447	521	SUCCESS
PVRL2	0	.	GRCh37	19	45391367	45391367	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	49	162	1	ENST00000252483.5:c.1348G>T	p.Glu450Ter	p.E450*	ENST00000252483	NM_001042724.1	450	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42576.1	1348	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGAAATG	NONE	.	.	hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF63	.	.	ENSP00000252483	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000252483	Transcript	.	.	ENSG00000130202	9707	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PVRL2_HUMAN	PVRL2	HGNC	Q7Z458_HUMAN,Q7Z457_HUMAN,Q7Z456_HUMAN	.	UPI000004A2BF	SNV	PVRL2,stop_gained,p.Glu450Ter,ENST00000252483,;PVRL2,missense_variant,p.Glu10Asp,ENST00000592018,;TOMM40,upstream_gene_variant,,ENST00000252487,;TOMM40,upstream_gene_variant,,ENST00000589649,;TOMM40,upstream_gene_variant,,ENST00000589253,;TOMM40,upstream_gene_variant,,ENST00000426677,;TOMM40,upstream_gene_variant,,ENST00000405636,;TOMM40,upstream_gene_variant,,ENST00000592434,;CTB-129P6.4,intron_variant,,ENST00000585408,;	1348	163	224	SUCCESS
RSPH6A	81492	.	GRCh37	19	46318184	46318184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	7	58	0	ENST00000221538.3:c.251G>T	p.Gly84Val	p.G84V	ENST00000221538	NM_030785.3	84	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12675.1	251	MUTECT|MUSE|VARSCANS	.	CCATGCCACCC	NONE	.	.	.	.	.	ENSP00000221538	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000221538	Transcript	.	.	ENSG00000104941	14241	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.053)	.	deleterious_low_confidence(0.03)	.	RSH6A_HUMAN	RSPH6A	HGNC	M0R103_HUMAN	.	UPI0000037C58	SNV	RSPH6A,missense_variant,p.Gly84Val,ENST00000221538,;RSPH6A,missense_variant,p.Gly84Val,ENST00000597055,;RSPH6A,upstream_gene_variant,,ENST00000600188,;SYMPK,downstream_gene_variant,,ENST00000245934,;SYMPK,downstream_gene_variant,,ENST00000598155,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000600237,;SYMPK,downstream_gene_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000596824,;SYMPK,downstream_gene_variant,,ENST00000598329,;	394	58	86	SUCCESS
CCDC155	0	.	GRCh37	19	49920647	49920647	+	synonymous_variant	Silent	SNP	C	C	A	rs182291239	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	84	0	ENST00000447857.3:c.1569C>A	p.Ile523=	p.I523=	ENST00000447857	NM_144688.4	523	atC/atA	0	.	T:0	.	T:0	.	A	I	protein_coding	YES	CCDS46140.1	1569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATCCCAGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0.002	.	ENSP00000404220	T:0	20/20	.	.	.	.	.	.	.	.	rs182291239	20/20	PASS	ENST00000447857	Transcript	.	T:0.0004	ENSG00000161609	26520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	KASH5_HUMAN	CCDC155	HGNC	M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN	.	UPI000006F690	SNV	CCDC155,synonymous_variant,p.%3D,ENST00000447857,;CCDC155,synonymous_variant,p.%3D,ENST00000600570,;CCDC155,downstream_gene_variant,,ENST00000593362,;	1774	84	112	SUCCESS
VN1R2	317701	.	GRCh37	19	53761860	53761860	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs750842896	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	23	73	0	ENST00000341702.3:c.232T>G	p.Ser78Ala	p.S78A	ENST00000341702	NM_173856.2	78	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS12862.1	232	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTCTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	rs750842896	1/1	PASS	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	deleterious_low_confidence(0.01)	.	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,missense_variant,p.Ser78Ala,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	316	73	122	SUCCESS
ZNF154	7710	.	GRCh37	19	58216279	58216279	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	26	265	0	ENST00000451275.1:c.102T>A	p.Ala34=	p.A34=	ENST00000451275		34	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42639.1	102	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGAGCCTC	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,PROSITE_profiles:PS50805	.	.	ENSP00000421258	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000512439	Transcript	.	.	ENSG00000179909	12939	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN154_HUMAN	ZNF154	HGNC	.	.	UPI00001D819A	SNV	ZNF154,synonymous_variant,p.%3D,ENST00000426889,;ZNF154,synonymous_variant,p.%3D,ENST00000512439,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF154,synonymous_variant,p.%3D,ENST00000451275,;	299	265	227	SUCCESS
ZNF324B	388569	.	GRCh37	19	58967236	58967236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	15	145	0	ENST00000336614.4:c.925G>T	p.Gly309Cys	p.G309C	ENST00000336614	NM_207395.2	309	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS33138.1	925	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGCGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000337473	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336614	Transcript	.	.	ENSG00000249471	33107	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	Z324B_HUMAN	ZNF324B	HGNC	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN	.	UPI000022AA2D	SNV	ZNF324B,missense_variant,p.Gly309Cys,ENST00000336614,;ZNF324B,missense_variant,p.Gly299Cys,ENST00000391696,;ZNF324B,missense_variant,p.Gly309Cys,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000599194,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000598244,;	1032	145	107	SUCCESS
OR2Z1	284383	.	GRCh37	19	8842140	8842140	+	synonymous_variant	Silent	SNP	C	C	A	rs782149328	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	28	137	0	ENST00000324060.2:c.750C>A	p.Leu250=	p.L250=	ENST00000324060	NM_001004699.1	250	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32895.1	750	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCTTTTA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF96,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000316284	.	1/1	.	.	.	.	.	.	.	.	rs782149328	1/1	PASS	ENST00000324060	Transcript	.	.	ENSG00000181733	15391	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2Z1_HUMAN	OR2Z1	HGNC	.	.	UPI000003F225	SNV	OR2Z1,synonymous_variant,p.%3D,ENST00000324060,;RPL23AP78,upstream_gene_variant,,ENST00000599928,;	825	137	192	SUCCESS
OR7D4	125958	.	GRCh37	19	9324917	9324917	+	synonymous_variant	Silent	SNP	C	C	T	rs377419980	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	27	135	0	ENST00000308682.2:c.597G>A	p.Leu199=	p.L199=	ENST00000308682	NM_001005191.2	199	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32901.1	597	RADIA|MUTECT|MUSE|VARSCANS	.	ACATACAAGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000310488	.	1/1	.	.	.	.	.	.	.	.	COSM568506	1/1	PASS	ENST00000308682	Transcript	.	.	ENSG00000174667	8380	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	OR7D4_HUMAN	OR7D4	HGNC	.	.	UPI00000472B5	SNV	OR7D4,synonymous_variant,p.%3D,ENST00000308682,;	626	135	169	SUCCESS
C1orf167	284498	.	GRCh37	1	11832211	11832211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	30	150	0	ENST00000433342.1:c.1955C>A	p.Ala652Asp	p.A652D	ENST00000433342		652	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	.	1955	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCACAC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000414909	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000433342	Transcript	.	.	ENSG00000215910	25262	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.02)	.	CA167_HUMAN	C1orf167	HGNC	.	.	UPI00015C73CD	SNV	C1orf167,missense_variant,p.Ala12Asp,ENST00000312793,;C1orf167,missense_variant,p.Ala652Asp,ENST00000433342,;RP11-56N19.5,downstream_gene_variant,,ENST00000376620,;C1orf167,non_coding_transcript_exon_variant,,ENST00000484153,;	1955	151	203	SUCCESS
S100A7A	338324	.	GRCh37	1	153390678	153390678	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	145	284	0	ENST00000329256.2:c.120C>A	p.Phe40Leu	p.F40L	ENST00000329256		40	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS30872.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCCCCAA	BUFFER|p.F43F|c.129C>T|3	.	.	hmmpanther:PTHR11639:SF64,hmmpanther:PTHR11639,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357718	.	2/3	.	.	.	.	.	.	.	.	COSM675241	2/3	PASS	ENST00000368729	Transcript	.	.	ENSG00000184330	21657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	S1A7A_HUMAN	S100A7A	HGNC	.	.	UPI000000D89D	SNV	S100A7A,missense_variant,p.Phe40Leu,ENST00000368728,;S100A7A,missense_variant,p.Phe40Leu,ENST00000368729,;S100A7A,missense_variant,p.Phe40Leu,ENST00000329256,;	177	284	403	SUCCESS
CACNA1E	777	.	GRCh37	1	181688911	181688911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	337	37	302	0	ENST00000367573.2:c.1663G>A	p.Val555Met	p.V555M	ENST00000367573	NM_001205293.1	555	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS55664.1	1663	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGTGGTC	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	13/48	.	.	.	.	.	.	.	.	.	13/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Val162Met,ENST00000367567,;CACNA1E,missense_variant,p.Val555Met,ENST00000360108,;CACNA1E,missense_variant,p.Val506Met,ENST00000358338,;CACNA1E,missense_variant,p.Val506Met,ENST00000357570,;CACNA1E,missense_variant,p.Val555Met,ENST00000526775,;CACNA1E,missense_variant,p.Val555Met,ENST00000367570,;CACNA1E,missense_variant,p.Val555Met,ENST00000367573,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	1663	302	374	SUCCESS
RGSL1	353299	.	GRCh37	1	182458241	182458241	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	210	33	209	0	ENST00000294854.8:c.1621G>T	p.Glu541Ter	p.E541*	ENST00000294854	NM_001137669.1	541	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS58049.1	1621	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAAATG	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845	.	.	ENSP00000457748	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,stop_gained,p.Glu541Ter,ENST00000294854,;RGSL1,stop_gained,p.Glu576Ter,ENST00000542961,;RGSL1,stop_gained,p.Glu576Ter,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000416676,;RGSL1,downstream_gene_variant,,ENST00000367561,;RGSL1,upstream_gene_variant,,ENST00000436031,;	1641	209	244	SUCCESS
IVNS1ABP	10625	.	GRCh37	1	185274712	185274712	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	95	234	0	ENST00000367498.3:c.721G>T	p.Ala241Ser	p.A241S	ENST00000367498	NM_006469.4	241	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1368.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCCTGTC	NONE	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF7,PIRSF_domain:PIRSF037037	.	.	ENSP00000356468	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000367498	Transcript	.	.	ENSG00000116679	16951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	NS1BP_HUMAN	IVNS1ABP	HGNC	B3KSM1_HUMAN	.	UPI0000036B84	SNV	IVNS1ABP,missense_variant,p.Ala23Ser,ENST00000392007,;IVNS1ABP,missense_variant,p.Ala241Ser,ENST00000367498,;IVNS1ABP,downstream_gene_variant,,ENST00000367497,;IVNS1ABP,downstream_gene_variant,,ENST00000422754,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000459929,;IVNS1ABP,upstream_gene_variant,,ENST00000494880,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000480769,;IVNS1ABP,upstream_gene_variant,,ENST00000475046,;IVNS1ABP,upstream_gene_variant,,ENST00000491112,;IVNS1ABP,upstream_gene_variant,,ENST00000468217,;	1344	234	267	SUCCESS
OR14K1	343170	.	GRCh37	1	247902194	247902194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	382	62	371	0	ENST00000283225.2:c.278T>A	p.Leu93Gln	p.L93Q	ENST00000283225		93	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	.	278	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGGGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000283225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000283225	Transcript	.	.	ENSG00000153230	15025	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.253)	.	tolerated(0.22)	.	O14K1_HUMAN	OR14K1	HGNC	.	.	UPI0000041CBA	SNV	OR14K1,missense_variant,p.Leu93Gln,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	278	371	444	SUCCESS
OR2T12	127064	.	GRCh37	1	248458244	248458244	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369151985	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1130	216	1231	0	ENST00000317996.1:c.637C>A	p.Leu213Met	p.L213M	ENST00000317996	NM_001004692.1	213	Ctg/Atg	0	A:0.0002	.	.	.	.	T	L/M	protein_coding	YES	CCDS31110.1	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGGATGA	BUFFER|p.S210F|c.629C>T|3	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	rs369151985,COSM907259	1/1	PASS	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	tolerated(0.05)	0,1	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,missense_variant,p.Leu213Met,ENST00000317996,;	637	1232	1346	SUCCESS
TRAPPC3	27095	.	GRCh37	1	36614938	36614938	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	19	109	0	ENST00000373166.3:c.42G>A	p.Met14Ile	p.M14I	ENST00000373166	NM_014408.4	14	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS404.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCATTTT	NONE	.	.	hmmpanther:PTHR13048,hmmpanther:PTHR13048:SF2,Gene3D:3.30.1380.20,PIRSF_domain:PIRSF018293,Superfamily_domains:SSF111126	.	.	ENSP00000362261	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000373166	Transcript	.	.	ENSG00000054116	19942	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.81)	.	TPPC3_HUMAN	TRAPPC3	HGNC	.	.	UPI0000052E1F	SNV	TRAPPC3,missense_variant,p.Met14Ile,ENST00000373166,;TRAPPC3,missense_variant,p.Met14Ile,ENST00000373159,;TRAPPC3,5_prime_UTR_variant,,ENST00000373163,;TRAPPC3,5_prime_UTR_variant,,ENST00000373162,;TRAPPC3,splice_region_variant,,ENST00000469757,;TRAPPC3,upstream_gene_variant,,ENST00000497251,;	133	109	135	SUCCESS
MUTYH	4595	.	GRCh37	1	45795060	45795060	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374655042	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	248	48	214	0	ENST00000372115.3:c.1526G>T	p.Arg509Leu	p.R509L	ENST00000372115	NM_001048171.1	509	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS520.1	1559	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCGGGGC	NONE	byCluster	.	hmmpanther:PTHR10359:SF24,hmmpanther:PTHR10359	.	.	ENSP00000361170	.	16/16	.	.	.	.	.	.	.	.	rs374655042	16/16	PASS	ENST00000372098	Transcript	.	.	ENSG00000132781	7527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.03)	.	MUTYH_HUMAN	MUTYH	HGNC	E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN	.	UPI000006EB4F	SNV	MUTYH,missense_variant,p.Arg520Leu,ENST00000372098,;MUTYH,missense_variant,p.Arg510Leu,ENST00000372110,;MUTYH,missense_variant,p.Arg495Leu,ENST00000355498,;MUTYH,missense_variant,p.Arg523Leu,ENST00000450313,;MUTYH,missense_variant,p.Arg495Leu,ENST00000372104,;MUTYH,missense_variant,p.Arg509Leu,ENST00000372115,;MUTYH,missense_variant,p.Arg509Leu,ENST00000528013,;MUTYH,missense_variant,p.Arg506Leu,ENST00000448481,;MUTYH,missense_variant,p.Arg495Leu,ENST00000456914,;MUTYH,missense_variant,p.Arg506Leu,ENST00000372100,;MUTYH,missense_variant,p.Arg190Leu,ENST00000488731,;MUTYH,missense_variant,p.Arg190Leu,ENST00000529984,;MUTYH,missense_variant,p.Arg187Leu,ENST00000529892,;MUTYH,missense_variant,p.Arg496Leu,ENST00000354383,;MUTYH,missense_variant,p.Arg204Leu,ENST00000528332,;MUTYH,synonymous_variant,p.%3D,ENST00000531105,;MUTYH,downstream_gene_variant,,ENST00000412971,;HPDL,downstream_gene_variant,,ENST00000334815,;MUTYH,downstream_gene_variant,,ENST00000483127,;MUTYH,downstream_gene_variant,,ENST00000435155,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000467459,;MUTYH,3_prime_UTR_variant,,ENST00000485271,;MUTYH,3_prime_UTR_variant,,ENST00000533178,;MUTYH,non_coding_transcript_exon_variant,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000534453,;MUTYH,downstream_gene_variant,,ENST00000470256,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,downstream_gene_variant,,ENST00000462388,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000461495,;MUTYH,downstream_gene_variant,,ENST00000478796,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000492494,;MUTYH,downstream_gene_variant,,ENST00000467940,;MUTYH,downstream_gene_variant,,ENST00000479746,;MUTYH,downstream_gene_variant,,ENST00000476789,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000466231,;	1693	215	296	SUCCESS
MAST2	23139	.	GRCh37	1	46485312	46485312	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	22	159	0	ENST00000361297.2:c.1233G>A	p.Gln411=	p.Q411=	ENST00000361297	NM_015112.2	411	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS41326.1	1233	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGCTGGT	NONE	.	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356,Pfam_domain:PF08926,Gene3D:1v9vA01,Superfamily_domains:0050107	.	.	ENSP00000354671	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,synonymous_variant,p.%3D,ENST00000361297,;MAST2,synonymous_variant,p.%3D,ENST00000372009,;MAST2,synonymous_variant,p.%3D,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000498668,;MAST2,upstream_gene_variant,,ENST00000467367,;	1516	159	143	SUCCESS
EFCAB14	9813	.	GRCh37	1	47150044	47150044	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	34	0	ENST00000371933.3:c.1186+119G>T		p.*396*	ENST00000371933	NM_014774.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30706.1	.	MUTECT|MUSE	.	CGGTGCGTTCA	NONE	.	.	.	.	.	ENSP00000361001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371933	Transcript	.	.	ENSG00000159658	29051	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFC14_HUMAN	EFCAB14	HGNC	.	.	UPI000003B443	SNV	EFCAB14,intron_variant,,ENST00000544071,;EFCAB14,intron_variant,,ENST00000371933,;EFCAB14-AS1,intron_variant,,ENST00000442839,;EFCAB14-AS1,intron_variant,,ENST00000418985,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000484461,;EFCAB14,intron_variant,,ENST00000459797,;EFCAB14,intron_variant,,ENST00000479745,;EFCAB14,intron_variant,,ENST00000487741,;EFCAB14,intron_variant,,ENST00000481623,;	.	34	45	SUCCESS
ESPN	83715	.	GRCh37	1	6520166	6520166	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761979450	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	32	138	0	ENST00000377828.1:c.2525G>T	p.Arg842Leu	p.R842L	ENST00000377828	NM_031475.2	842	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS70.1	2525	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGACAGG	NONE	byFrequency	.	hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF14	.	.	ENSP00000367059	.	13/13	.	.	.	.	.	.	.	.	rs761979450,COSM3491750	13/13	PASS	ENST00000377828	Transcript	.	.	ENSG00000187017	13281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	ESPN_HUMAN	ESPN	HGNC	.	.	UPI000013D2B6	SNV	ESPN,missense_variant,p.Arg276Leu,ENST00000416731,;ESPN,missense_variant,p.Arg842Leu,ENST00000377828,;ESPN,missense_variant,p.Arg276Leu,ENST00000461727,;ESPN,missense_variant,p.Arg186Leu,ENST00000434576,;TNFRSF25,downstream_gene_variant,,ENST00000356876,;TNFRSF25,downstream_gene_variant,,ENST00000348333,;TNFRSF25,downstream_gene_variant,,ENST00000481401,;TNFRSF25,downstream_gene_variant,,ENST00000351959,;TNFRSF25,downstream_gene_variant,,ENST00000377782,;TNFRSF25,downstream_gene_variant,,ENST00000351748,;ESPN,downstream_gene_variant,,ENST00000475228,;TNFRSF25,downstream_gene_variant,,ENST00000461703,;ESPN,upstream_gene_variant,,ENST00000468561,;TNFRSF25,downstream_gene_variant,,ENST00000475730,;ESPN,non_coding_transcript_exon_variant,,ENST00000477679,;TNFRSF25,downstream_gene_variant,,ENST00000515145,;TNFRSF25,downstream_gene_variant,,ENST00000453260,;TNFRSF25,downstream_gene_variant,,ENST00000414040,;TNFRSF25,downstream_gene_variant,,ENST00000453341,;TNFRSF25,downstream_gene_variant,,ENST00000469691,;TNFRSF25,downstream_gene_variant,,ENST00000510563,;TNFRSF25,downstream_gene_variant,,ENST00000485036,;TNFRSF25,downstream_gene_variant,,ENST00000480393,;TNFRSF25,downstream_gene_variant,,ENST00000513135,;TNFRSF25,downstream_gene_variant,,ENST00000473343,;TNFRSF25,downstream_gene_variant,,ENST00000502588,;TNFRSF25,downstream_gene_variant,,ENST00000502730,;	2693	138	166	SUCCESS
C1orf173	0	.	GRCh37	1	75037157	75037157	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	32	304	0	ENST00000326665.5:c.4237G>T	p.Glu1413Ter	p.E1413*	ENST00000326665	NM_001002912.4	1413	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS30755.1	4237	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCCCAC	NONE	.	.	hmmpanther:PTHR23034	.	.	ENSP00000322609	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,stop_gained,p.Glu1413Ter,ENST00000326665,;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	4456	304	259	SUCCESS
NEXN	91624	.	GRCh37	1	78407772	78407772	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	39	298	0	ENST00000334785.7:c.1538T>A	p.Met513Lys	p.M513K	ENST00000334785	NM_144573.3	513	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS41351.1	1538	RADIA|MUTECT|MUSE|VARSCANS	.	GAATATGAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22964	.	.	ENSP00000333938	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000334785	Transcript	.	.	ENSG00000162614	29557	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NEXN_HUMAN	NEXN	HGNC	B4DDI0_HUMAN	.	UPI000022ABDC	SNV	NEXN,missense_variant,p.Met413Lys,ENST00000342754,;NEXN,missense_variant,p.Met513Lys,ENST00000334785,;NEXN,missense_variant,p.Met499Lys,ENST00000457030,;NEXN,missense_variant,p.Met449Lys,ENST00000330010,;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;FUBP1,downstream_gene_variant,,ENST00000483894,;FUBP1,downstream_gene_variant,,ENST00000492724,;FUBP1,downstream_gene_variant,,ENST00000488814,;FUBP1,downstream_gene_variant,,ENST00000474632,;FUBP1,downstream_gene_variant,,ENST00000492405,;FUBP1,downstream_gene_variant,,ENST00000480673,;FUBP1,downstream_gene_variant,,ENST00000489495,;NEXN,non_coding_transcript_exon_variant,,ENST00000470735,;FUBP1,downstream_gene_variant,,ENST00000294623,;	1722	298	269	SUCCESS
GNRH2	2797	.	GRCh37	20	3025397	3025397	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	76	0	ENST00000245983.2:c.227C>T	p.Pro76Leu	p.P76L	ENST00000245983	NM_001501.1	76	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13040.1	227	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCCCTGG	NONE	.	.	hmmpanther:PTHR10522:SF6,hmmpanther:PTHR10522	.	.	ENSP00000245983	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000245983	Transcript	.	.	ENSG00000125787	4420	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.29)	.	GON2_HUMAN	GNRH2	HGNC	.	.	UPI000012B8FB	SNV	GNRH2,missense_variant,p.Pro68Leu,ENST00000380346,;GNRH2,missense_variant,p.Pro69Leu,ENST00000380347,;GNRH2,missense_variant,p.Pro69Leu,ENST00000359100,;GNRH2,missense_variant,p.Pro68Leu,ENST00000359987,;GNRH2,missense_variant,p.Pro76Leu,ENST00000245983,;MRPS26,upstream_gene_variant,,ENST00000380325,;	278	76	96	SUCCESS
CDK5RAP1	51654	.	GRCh37	20	31948050	31948050	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	50	0	ENST00000357886.4:c.1725+107A>T		p.*575*	ENST00000357886				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13219.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGATTTTTA	NONE	.	.	.	.	.	ENSP00000217372	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000346416	Transcript	.	.	ENSG00000101391	15880	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CK5P1_HUMAN	CDK5RAP1	HGNC	Q53H36_HUMAN	.	UPI000004495E	SNV	CDK5RAP1,3_prime_UTR_variant,,ENST00000544843,;CDK5RAP1,intron_variant,,ENST00000357886,;CDK5RAP1,intron_variant,,ENST00000473997,;CDK5RAP1,intron_variant,,ENST00000427097,;CDK5RAP1,intron_variant,,ENST00000339269,;CDK5RAP1,intron_variant,,ENST00000346416,;CDK5RAP1,intron_variant,,ENST00000481964,;CDK5RAP1,intron_variant,,ENST00000498525,;CDK5RAP1,intron_variant,,ENST00000482967,;CDK5RAP1,downstream_gene_variant,,ENST00000496381,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000461710,;	.	50	57	SUCCESS
RALGAPB	57148	.	GRCh37	20	37154091	37154091	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	444	92	607	0	ENST00000262879.6:c.1832G>C	p.Arg611Pro	p.R611P	ENST00000262879		611	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS13305.1	1832	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21344	.	.	ENSP00000262879	.	12/30	.	.	.	.	.	.	.	.	COSM577473	12/30	PASS	ENST00000262879	Transcript	.	.	ENSG00000170471	29221	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	RLGPB_HUMAN	RALGAPB	HGNC	Q6MZJ2_HUMAN	.	UPI000000DBFD	SNV	RALGAPB,missense_variant,p.Arg389Pro,ENST00000397038,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000397040,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000397042,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000262879,;RALGAPB,missense_variant,p.Arg439Pro,ENST00000438490,;RALGAPB,downstream_gene_variant,,ENST00000537204,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;	2116	607	536	SUCCESS
NCOA3	8202	.	GRCh37	20	46279951	46279951	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376291640	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	19	117	0	ENST00000371998.3:c.3877G>T	p.Asp1293Tyr	p.D1293Y	ENST00000371998		1293	Gat/Tat	0	A:0.0002	.	.	.	.	T	D/Y	protein_coding	YES	CCDS13407.1	3877	RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGATGGG	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Pfam_domain:PF07469,PIRSF_domain:PIRSF038181	.	A:0	ENSP00000361066	.	20/23	.	.	.	.	.	.	.	.	rs376291640	20/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Asp1284Tyr,ENST00000371997,;NCOA3,missense_variant,p.Asp1289Tyr,ENST00000372004,;NCOA3,missense_variant,p.Asp1219Tyr,ENST00000341724,;NCOA3,missense_variant,p.Asp1293Tyr,ENST00000371998,;	4068	117	116	SUCCESS
ZGPAT	84619	.	GRCh37	20	62340061	62340061	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	51	0	ENST00000328969.5:c.129G>T	p.Leu43=	p.L43=	ENST00000328969	NM_032527.4	43	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13534.1	129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGAAGGA	NONE	.	.	hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF8	.	.	ENSP00000332013	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000328969	Transcript	.	.	ENSG00000197114	15948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZGPAT_HUMAN	ZGPAT	HGNC	.	.	UPI000013EEDB	SNV	ZGPAT,synonymous_variant,p.%3D,ENST00000448100,;ZGPAT,synonymous_variant,p.%3D,ENST00000328969,;ZGPAT,synonymous_variant,p.%3D,ENST00000357119,;ZGPAT,synonymous_variant,p.%3D,ENST00000355969,;ZGPAT,synonymous_variant,p.%3D,ENST00000431125,;ZGPAT,synonymous_variant,p.%3D,ENST00000369967,;ARFRP1,upstream_gene_variant,,ENST00000609142,;ARFRP1,upstream_gene_variant,,ENST00000324228,;ARFRP1,upstream_gene_variant,,ENST00000440854,;ARFRP1,upstream_gene_variant,,ENST00000359715,;ARFRP1,upstream_gene_variant,,ENST00000607873,;ARFRP1,upstream_gene_variant,,ENST00000424545,;ZGPAT,upstream_gene_variant,,ENST00000478385,;ZGPAT,upstream_gene_variant,,ENST00000472711,;ZGPAT,upstream_gene_variant,,ENST00000468235,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000477340,;ARFRP1,upstream_gene_variant,,ENST00000609243,;RP4-583P15.15,upstream_gene_variant,,ENST00000490623,;ARFRP1,upstream_gene_variant,,ENST00000610136,;ARFRP1,upstream_gene_variant,,ENST00000609537,;	256	51	55	SUCCESS
BAGE2	85319	.	GRCh37	21	11020854	11020854	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	789	54	896	0	ENST00000470054.1:n.1879C>A		p.*627*	ENST00000470054				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	ACACTGAGAAC	NONE	.	.	.	.	.	.	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1879	896	843	SUCCESS
KRTAP19-4	337971	.	GRCh37	21	31869199	31869199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	29	220	0	ENST00000334058.2:c.230G>T	p.Arg77Ile	p.R77I	ENST00000334058	NM_181610.1	77	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS33534.1	230	RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTTCTT	NONE	.	.	.	.	.	ENSP00000335567	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334058	Transcript	.	.	ENSG00000186967	18939	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.14)	.	KR194_HUMAN	KRTAP19-4	HGNC	.	.	UPI00001A9E53	SNV	KRTAP19-4,missense_variant,p.Arg77Ile,ENST00000334058,;KRTAP19-3,upstream_gene_variant,,ENST00000334063,;KRTAP19-5,downstream_gene_variant,,ENST00000334151,;	253	220	217	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43802158	43802158	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	13	139	0	ENST00000291532.3:c.952+16T>C		p.*318*	ENST00000291532	NM_032404.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13686.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACATAGAGAC	NONE	.	.	.	.	.	ENSP00000291532	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,missense_variant,p.Leu323Pro,ENST00000398397,;TMPRSS3,intron_variant,,ENST00000433957,;TMPRSS3,intron_variant,,ENST00000398405,;TMPRSS3,intron_variant,,ENST00000380399,;TMPRSS3,intron_variant,,ENST00000291532,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000478680,;TMPRSS3,intron_variant,,ENST00000474596,;TMPRSS3,intron_variant,,ENST00000476848,;TMPRSS3,intron_variant,,ENST00000482761,;	.	139	134	SUCCESS
PLA2G3	50487	.	GRCh37	22	31534717	31534717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	380	81	492	0	ENST00000215885.3:c.583C>A	p.Gln195Lys	p.Q195K	ENST00000215885	NM_015715.3	195	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS13889.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	GTACTGCAAGG	NONE	.	.	hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253,Pfam_domain:PF05826,Gene3D:1.20.90.10,Superfamily_domains:SSF48619	.	.	ENSP00000215885	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.74)	.	deleterious(0)	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,missense_variant,p.Gln195Lys,ENST00000215885,;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000412277,;INPP5J,downstream_gene_variant,,ENST00000405300,;INPP5J,downstream_gene_variant,,ENST00000404390,;INPP5J,downstream_gene_variant,,ENST00000331075,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000461241,;	836	492	461	SUCCESS
GRAP2	9402	.	GRCh37	22	40343142	40343142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	62	302	0	ENST00000344138.4:c.32C>A	p.Ala11Asp	p.A11D	ENST00000344138	NM_004810.2	11	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13999.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCTTCAG	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF00018,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF28,PROSITE_profiles:PS50002	.	.	ENSP00000339186	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000344138	Transcript	.	.	ENSG00000100351	4563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRAP2_HUMAN	GRAP2	HGNC	Q6FI14_HUMAN,B7Z8E3_HUMAN,B1AH86_HUMAN	.	UPI000012BB02	SNV	GRAP2,missense_variant,p.Ala11Asp,ENST00000543252,;GRAP2,missense_variant,p.Ala11Asp,ENST00000420971,;GRAP2,missense_variant,p.Ala11Asp,ENST00000407075,;GRAP2,missense_variant,p.Ala11Asp,ENST00000344138,;GRAP2,5_prime_UTR_variant,,ENST00000544756,;GRAP2,intron_variant,,ENST00000399090,;GRAP2,intron_variant,,ENST00000540310,;GRAP2,intron_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000461082,;	295	302	239	SUCCESS
PDIA6	10130	.	GRCh37	2	10925030	10925030	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	46	0	ENST00000272227.3:c.1254+30C>T		p.*418*	ENST00000272227	NM_005742.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42653.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCCCGC	NONE	.	1469	.	.	.	ENSP00000272238	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000272238	Transcript	.	.	ENSG00000143882	18264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VATC2_HUMAN	ATP6V1C2	HGNC	.	.	UPI0000208E71	SNV	ATP6V1C2,3_prime_UTR_variant,,ENST00000381661,;PDIA6,intron_variant,,ENST00000404371,;PDIA6,intron_variant,,ENST00000272227,;PDIA6,intron_variant,,ENST00000540494,;PDIA6,intron_variant,,ENST00000404824,;PDIA6,intron_variant,,ENST00000381611,;ATP6V1C2,downstream_gene_variant,,ENST00000272238,;ATP6V1C2,downstream_gene_variant,,ENST00000480289,;	.	46	64	SUCCESS
MYO7B	4648	.	GRCh37	2	128335798	128335798	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs549327895	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	19	115	0	ENST00000409816.2:c.940G>T	p.Glu314Ter	p.E314*	ENST00000409816		314	Gag/Tag	0	.	A:0	.	A:0.0014	.	T	E/*	protein_coding	YES	CCDS46405.1	940	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGAGAGC	NONE	by1000G	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF352,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	A:0	.	ENSP00000415090	A:0	9/47	.	.	.	.	.	.	.	.	rs549327895,COSM3042436,COSM3042435	9/47	PASS	ENST00000428314	Transcript	.	A:0.0002	ENSG00000169994	7607	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	A:0	.	0,1,1	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,stop_gained,p.Glu314Ter,ENST00000389524,;MYO7B,stop_gained,p.Glu314Ter,ENST00000409816,;MYO7B,stop_gained,p.Glu314Ter,ENST00000428314,;	993	115	138	SUCCESS
MYO3B	140469	.	GRCh37	2	171260816	171260816	+	synonymous_variant	Silent	SNP	G	G	T	rs201316029	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	37	197	0	ENST00000408978.4:c.2337G>T	p.Pro779=	p.P779=	ENST00000408978	NM_138995.4	779	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42773.1	2337	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGCTCTT	NONE	byCluster	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	20/35	.	.	.	.	.	.	.	.	rs201316029	20/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,synonymous_variant,p.%3D,ENST00000484338,;MYO3B,synonymous_variant,p.%3D,ENST00000408978,;MYO3B,synonymous_variant,p.%3D,ENST00000334231,;MYO3B,synonymous_variant,p.%3D,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,synonymous_variant,p.%3D,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	2480	197	186	SUCCESS
TTN	7273	.	GRCh37	2	179484372	179484372	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	41	286	0	ENST00000591111.1:c.41749G>T	p.Ala13917Ser	p.A13917S	ENST00000591111		13917	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS59435.1	46672	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408	.	.	ENSP00000467141	.	250/363	.	.	.	.	.	.	.	.	.	250/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala6618Ser,ENST00000359218,;TTN,missense_variant,p.Ala13917Ser,ENST00000591111,;TTN,missense_variant,p.Ala15558Ser,ENST00000589042,;TTN,missense_variant,p.Ala12990Ser,ENST00000342992,;TTN,missense_variant,p.Ala6685Ser,ENST00000342175,;TTN,missense_variant,p.Ala6493Ser,ENST00000460472,;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000604956,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;	46897	286	281	SUCCESS
CGREF1	10669	.	GRCh37	2	27327386	27327386	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	13	139	0	ENST00000260595.5:c.-11-141A>T		p.*4*	ENST00000260595				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33162.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTCACAG	NONE	.	.	.	.	.	ENSP00000385452	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402394	Transcript	.	.	ENSG00000138028	16962	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CGRE1_HUMAN	CGREF1	HGNC	.	.	UPI000013D0EB	SNV	CGREF1,missense_variant,p.Glu72Val,ENST00000404694,;CGREF1,intron_variant,,ENST00000452318,;CGREF1,intron_variant,,ENST00000405600,;CGREF1,intron_variant,,ENST00000402550,;CGREF1,intron_variant,,ENST00000260595,;CGREF1,intron_variant,,ENST00000312734,;CGREF1,intron_variant,,ENST00000402394,;KHK,downstream_gene_variant,,ENST00000260599,;KHK,downstream_gene_variant,,ENST00000260598,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,;CGREF1,upstream_gene_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000464371,;	.	139	135	SUCCESS
ALMS1	7840	.	GRCh37	2	73677972	73677972	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	22	268	0	ENST00000264448.6:c.4315C>T	p.Gln1439Ter	p.Q1439*	ENST00000264448	NM_015120.4	1439	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS42697.1	4315	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCAACAG	NONE	.	.	.	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,stop_gained,p.Gln1439Ter,ENST00000377715,;ALMS1,stop_gained,p.Gln1397Ter,ENST00000409009,;ALMS1,stop_gained,p.Gln1439Ter,ENST00000264448,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;	4426	268	226	SUCCESS
ALMS1	7840	.	GRCh37	2	73800105	73800105	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778698425	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	17	124	0	ENST00000264448.6:c.11098C>T	p.His3700Tyr	p.H3700Y	ENST00000264448	NM_015120.4	3700	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS42697.1	11098	RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCATCGA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	16/23	.	.	.	.	.	.	.	.	rs778698425	16/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.425)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.His3658Tyr,ENST00000409009,;ALMS1,missense_variant,p.His3700Tyr,ENST00000264448,;ALMS1,3_prime_UTR_variant,,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	11209	124	138	SUCCESS
SLC6A11	6538	.	GRCh37	3	10967702	10967702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	43	176	0	ENST00000254488.2:c.1133C>A	p.Ala378Asp	p.A378D	ENST00000254488	NM_014229.1	378	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS2602.1	1133	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCTTTA	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000254488	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000254488	Transcript	.	.	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Ala378Asp,ENST00000254488,;	1199	176	212	SUCCESS
MECOM	2122	.	GRCh37	3	168819859	168819859	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	22	149	0	ENST00000468789.1:c.2196C>T	p.Arg732=	p.R732=	ENST00000468789	NM_001105078.3	732	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54670.1	2391	RADIA|MUTECT|MUSE|VARSCANS	.	GTATAGCGCTC	NONE	.	.	hmmpanther:PTHR24393,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000264674	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,synonymous_variant,p.%3D,ENST00000472280,;MECOM,synonymous_variant,p.%3D,ENST00000460814,;MECOM,synonymous_variant,p.%3D,ENST00000464456,;MECOM,synonymous_variant,p.%3D,ENST00000494292,;MECOM,synonymous_variant,p.%3D,ENST00000468789,;MECOM,synonymous_variant,p.%3D,ENST00000433243,;MECOM,synonymous_variant,p.%3D,ENST00000392736,;MECOM,synonymous_variant,p.%3D,ENST00000264674,;	2530	149	141	SUCCESS
DGKG	1608	.	GRCh37	3	185986694	185986694	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs199552752	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	44	0	ENST00000265022.3:c.1012G>C	p.Ala338Pro	p.A338P	ENST00000265022	NM_001080744.1	338	Gca/Cca	0	T:0	T:0	.	T:0	.	G	A/P	protein_coding	YES	CCDS3274.1	1012	RADIA|MUTECT|VARSCANS	.	CCATGCGTGCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889	T:0	T:0.0001	ENSP00000265022	T:0	12/25	.	.	.	.	.	.	.	.	rs199552752	12/25	PASS	ENST00000265022	Transcript	.	T:0.0004	ENSG00000058866	2853	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.346)	T:0.002	tolerated(0.21)	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,missense_variant,p.Ala89Pro,ENST00000437018,;DGKG,missense_variant,p.Ala338Pro,ENST00000265022,;DGKG,missense_variant,p.Ala338Pro,ENST00000344484,;DGKG,intron_variant,,ENST00000544847,;DGKG,intron_variant,,ENST00000382164,;DGKG,intron_variant,,ENST00000480809,;DGKG,intron_variant,,ENST00000472506,;	1552	44	49	SUCCESS
USP19	10869	.	GRCh37	3	49151699	49151699	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	33	111	0	ENST00000398888.2:c.2002C>G	p.Pro668Ala	p.P668A	ENST00000398888	NM_006677.2	668	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS56254.1	2305	RADIA|MUTECT|MUSE|VARSCANS	.	AAACGGGTCAA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000401197	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Pro771Ala,ENST00000417901,;USP19,missense_variant,p.Pro708Ala,ENST00000398892,;USP19,missense_variant,p.Pro708Ala,ENST00000398898,;USP19,missense_variant,p.Pro759Ala,ENST00000453664,;USP19,missense_variant,p.Pro769Ala,ENST00000434032,;USP19,missense_variant,p.Pro476Ala,ENST00000398896,;USP19,missense_variant,p.Pro668Ala,ENST00000398888,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000491859,;	2517	111	173	SUCCESS
GPX1	2876	.	GRCh37	3	49394940	49394940	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	278	58	261	0	ENST00000419783.1:c.493G>A	p.Glu165Lys	p.E165K	ENST00000419783	NM_000581.2	165	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43091.1	493	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCAAAGT	NONE	.	.	Prints_domain:PR01011,Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000303,Gene3D:3.40.30.10,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF24,PROSITE_profiles:PS51355	.	.	ENSP00000407375	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000419783	Transcript	.	.	ENSG00000233276	4553	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	GPX1_HUMAN	GPX1	HGNC	Q7L4Q3_HUMAN	.	UPI00001B07C3	SNV	GPX1,missense_variant,p.Glu165Lys,ENST00000419783,;GPX1,3_prime_UTR_variant,,ENST00000419349,;RHOA,downstream_gene_variant,,ENST00000422781,;RHOA,downstream_gene_variant,,ENST00000454011,;RHOA,downstream_gene_variant,,ENST00000418115,;GPX1,downstream_gene_variant,,ENST00000496791,;	815	261	337	SUCCESS
STAB1	23166	.	GRCh37	3	52546358	52546358	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	62	0	ENST00000321725.6:c.2885C>T	p.Ala962Val	p.A962V	ENST00000321725	NM_015136.2	962	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33768.1	2885	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCACCT	NONE	.	.	SMART_domains:SM00181,Pfam_domain:PF12947,Gene3D:2.10.25.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	.	.	ENSP00000312946	.	27/69	.	.	.	.	.	.	.	.	.	27/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ala962Val,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	2961	62	61	SUCCESS
OTOP1	133060	.	GRCh37	4	4199717	4199717	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	43	287	1	ENST00000296358.4:c.844T>C	p.Ser282Pro	p.S282P	ENST00000296358	NM_177998.1	282	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS3372.1	844	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGAGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000296358	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,missense_variant,p.Ser282Pro,ENST00000296358,;	869	289	246	SUCCESS
PPBP	5473	.	GRCh37	4	74853684	74853684	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201755460	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	47	258	0	ENST00000296028.3:c.137C>A	p.Ala46Glu	p.A46E	ENST00000296028	NM_002704.3	46	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS3563.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCGCCAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10179	.	.	ENSP00000296028	.	1/3	.	.	.	.	.	.	.	.	rs201755460	1/3	PASS	ENST00000296028	Transcript	.	.	ENSG00000163736	9240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CXCL7_HUMAN	PPBP	HGNC	D3JV43_HUMAN,D3JV42_HUMAN,D3JV41_HUMAN	.	UPI00000012C5	SNV	PPBP,missense_variant,p.Ala46Glu,ENST00000296028,;	231	258	210	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250040	140250040	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782622577	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	19	252	0	ENST00000398640.2:c.1352C>A	p.Ala451Glu	p.A451E	ENST00000398640	NM_018902.3	451	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS47284.1	1352	MUTECT|MUSE|VARSCANS	.	CAATGCGCCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	rs782622577,COSM3786855,COSM3786854	1/4	PASS	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.842)	.	deleterious_low_confidence(0)	0,1,1	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,missense_variant,p.Ala451Glu,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1352	252	255	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250371	140250371	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	14	92	0	ENST00000398640.2:c.1683G>A	p.Ala561=	p.A561=	ENST00000398640	NM_018902.3	561	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47284.1	1683	RADIA|MUTECT|MUSE|VARSCANS	.	AACGCGCCGGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,synonymous_variant,p.%3D,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA12,upstream_gene_variant,,ENST00000398631,;	1683	92	95	SUCCESS
PPP2R2B	5521	.	GRCh37	5	146435232	146435232	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	14	126	0	ENST00000394409.3:c.50+25390A>G		p.*17*	ENST00000394409		25		0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4283.1	75	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTGTGTG	NONE	.	.	hmmpanther:PTHR11871:SF1,hmmpanther:PTHR11871,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF037309,Superfamily_domains:SSF50978	.	.	ENSP00000336591	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000336640	Transcript	1	.	ENSG00000156475	9305	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	2ABB_HUMAN	PPP2R2B	HGNC	.	.	UPI0000026156	SNV	PPP2R2B,missense_variant,p.Arg24Gly,ENST00000394414,;PPP2R2B,synonymous_variant,p.%3D,ENST00000336640,;PPP2R2B,5_prime_UTR_variant,,ENST00000356826,;PPP2R2B,intron_variant,,ENST00000504198,;PPP2R2B,intron_variant,,ENST00000394409,;PPP2R2B,intron_variant,,ENST00000508267,;PPP2R2B,intron_variant,,ENST00000394410,;PPP2R2B,intron_variant,,ENST00000509721,;PPP2R2B,missense_variant,p.Arg24Gly,ENST00000522831,;PPP2R2B,synonymous_variant,p.%3D,ENST00000515880,;PPP2R2B,synonymous_variant,p.%3D,ENST00000512011,;PPP2R2B,intron_variant,,ENST00000504565,;	306	126	136	SUCCESS
PPARGC1B	133522	.	GRCh37	5	149213132	149213132	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1312247542	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	76	0	ENST00000309241.5:c.1496C>T	p.Pro499Leu	p.P499L	ENST00000309241	NM_133263.3	499	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4298.1	1496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCCCTCGG	NONE	.	.	hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528	.	.	ENSP00000312649	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000309241	Transcript	.	.	ENSG00000155846	30022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.06)	.	PRGC2_HUMAN	PPARGC1B	HGNC	.	.	UPI000006F49D	SNV	PPARGC1B,missense_variant,p.Pro460Leu,ENST00000360453,;PPARGC1B,missense_variant,p.Pro435Leu,ENST00000403750,;PPARGC1B,missense_variant,p.Pro499Leu,ENST00000309241,;PPARGC1B,missense_variant,p.Pro499Leu,ENST00000394320,;PPARGC1B,missense_variant,p.Pro186Leu,ENST00000434684,;	1528	76	80	SUCCESS
CYFIP2	26999	.	GRCh37	5	156768087	156768087	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	37	200	0	ENST00000521420.1:c.2517G>T	p.Arg839=	p.R839=	ENST00000521420		839	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	.	2517	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGGACTGC	NONE	.	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994	.	.	ENSP00000430904	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,synonymous_variant,p.%3D,ENST00000377576,;CYFIP2,synonymous_variant,p.%3D,ENST00000541131,;CYFIP2,synonymous_variant,p.%3D,ENST00000318218,;CYFIP2,synonymous_variant,p.%3D,ENST00000435847,;CYFIP2,synonymous_variant,p.%3D,ENST00000442283,;CYFIP2,synonymous_variant,p.%3D,ENST00000347377,;CYFIP2,synonymous_variant,p.%3D,ENST00000522463,;CYFIP2,synonymous_variant,p.%3D,ENST00000521420,;FNDC9,downstream_gene_variant,,ENST00000520782,;FNDC9,downstream_gene_variant,,ENST00000312349,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000520424,;	2608	200	223	SUCCESS
SIMC1	375484	.	GRCh37	5	175717117	175717117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	30	212	2	ENST00000443967.1:c.533G>T	p.Ser178Ile	p.S178I	ENST00000443967		178	aGc/aTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4398.2	.	RADIA|VARSCANS	.	CAGCAGCAGCA	NONE	.	.	.	.	.	ENSP00000342075	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,missense_variant,p.Ser178Ile,ENST00000443967,;SIMC1,missense_variant,p.Ser197Ile,ENST00000429602,;SIMC1,intron_variant,,ENST00000430704,;SIMC1,intron_variant,,ENST00000341199,;SIMC1,non_coding_transcript_exon_variant,,ENST00000503595,;SIMC1,intron_variant,,ENST00000467472,;SIMC1,downstream_gene_variant,,ENST00000508769,;SIMC1,downstream_gene_variant,,ENST00000514128,;SIMC1,intron_variant,,ENST00000495423,;	.	214	239	SUCCESS
GFM2	84340	.	GRCh37	5	74047313	74047313	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	22	146	0	ENST00000296805.3:c.310G>A	p.Asp104Asn	p.D104N	ENST00000296805	NM_032380.4	104	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4023.1	310	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCAACAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296805	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000296805	Transcript	.	.	ENSG00000164347	29682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.11)	.	RRF2M_HUMAN	GFM2	HGNC	D6RF75_HUMAN	.	UPI0000129CA7	SNV	GFM2,missense_variant,p.Asp29Asn,ENST00000506778,;GFM2,missense_variant,p.Asp104Asn,ENST00000345239,;GFM2,missense_variant,p.Asp104Asn,ENST00000427854,;GFM2,missense_variant,p.Asp104Asn,ENST00000509430,;GFM2,missense_variant,p.Asp104Asn,ENST00000296805,;GFM2,intron_variant,,ENST00000509097,;	768	146	171	SUCCESS
AIM1	0	.	GRCh37	6	106978191	106978191	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs750465483	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	130	0	ENST00000369066.3:c.3494+1G>T		p.X1165_splice	ENST00000369066	NM_001624.2	1165		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34506.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACGTAAGT	NONE	.	.	.	.	.	ENSP00000358062	.	.	.	.	.	.	.	.	.	.	rs750465483	.	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	HIGH	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,splice_donor_variant,,ENST00000369066,;	.	130	108	SUCCESS
TTBK1	84630	.	GRCh37	6	43230655	43230655	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	87	0	ENST00000259750.4:c.1553T>A	p.Val518Glu	p.V518E	ENST00000259750	NM_032538.1	518	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS34455.1	1553	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTGGAGC	NONE	.	.	hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909	.	.	ENSP00000259750	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.461)	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,missense_variant,p.Val467Glu,ENST00000304139,;TTBK1,missense_variant,p.Val518Glu,ENST00000259750,;	1636	88	115	SUCCESS
MUC17	140453	.	GRCh37	7	100677499	100677499	+	synonymous_variant	Silent	SNP	G	G	T	rs563806733	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	390	17	519	0	ENST00000306151.4:c.2802G>T	p.Thr934=	p.T934=	ENST00000306151	NM_001040105.1	934	acG/acT	0	.	A:0	.	A:0	.	T	T	protein_coding	YES	CCDS34711.1	2802	MUTECT|MUSE	.	ACCACGCCGGT	NONE	by1000G	.	.	A:0.001	.	ENSP00000302716	A:0	3/13	.	.	.	.	.	.	.	.	rs563806733,COSM3411396	3/13	PASS	ENST00000306151	Transcript	.	A:0.0002	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;	2866	519	407	SUCCESS
ATXN7L1	222255	.	GRCh37	7	105254791	105254791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	349	77	381	1	ENST00000419735.3:c.1990A>G	p.Thr664Ala	p.T664A	ENST00000419735	NM_020725.1	664	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47682.1	1990	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTCTGCA	NONE	.	.	hmmpanther:PTHR15117:SF1,hmmpanther:PTHR15117,Low_complexity_(Seg):seg	.	.	ENSP00000410759	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000419735	Transcript	.	.	ENSG00000146776	22210	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.34)	.	AT7L1_HUMAN	ATXN7L1	HGNC	F8WDE7_HUMAN	.	UPI000162C85E	SNV	ATXN7L1,missense_variant,p.Thr540Ala,ENST00000477775,;ATXN7L1,missense_variant,p.Thr324Ala,ENST00000388807,;ATXN7L1,missense_variant,p.Thr540Ala,ENST00000472195,;ATXN7L1,missense_variant,p.Thr365Ala,ENST00000484475,;ATXN7L1,missense_variant,p.Thr664Ala,ENST00000419735,;ATXN7L1,3_prime_UTR_variant,,ENST00000474433,;	2036	382	426	SUCCESS
EXOC4	60412	.	GRCh37	7	133314872	133314872	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759701016	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	19	161	0	ENST00000253861.4:c.1492G>T	p.Val498Phe	p.V498F	ENST00000253861	NM_021807.3	498	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS5829.1	1492	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGTCATA	NONE	byFrequency	.	hmmpanther:PTHR14146	.	.	ENSP00000253861	.	10/18	.	.	.	.	.	.	.	.	rs759701016,COSM3878227,COSM3878228	10/18	PASS	ENST00000253861	Transcript	.	.	ENSG00000131558	30389	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.257)	.	tolerated(0.36)	0,1,1	EXOC4_HUMAN	EXOC4	HGNC	B7Z4J9_HUMAN,B7Z321_HUMAN	.	UPI0000135758	SNV	EXOC4,missense_variant,p.Val397Phe,ENST00000539845,;EXOC4,missense_variant,p.Val498Phe,ENST00000253861,;EXOC4,missense_variant,p.Val108Phe,ENST00000545148,;EXOC4,non_coding_transcript_exon_variant,,ENST00000469115,;EXOC4,non_coding_transcript_exon_variant,,ENST00000486409,;EXOC4,non_coding_transcript_exon_variant,,ENST00000483800,;EXOC4,non_coding_transcript_exon_variant,,ENST00000479839,;EXOC4,non_coding_transcript_exon_variant,,ENST00000460346,;EXOC4,non_coding_transcript_exon_variant,,ENST00000482089,;EXOC4,non_coding_transcript_exon_variant,,ENST00000489931,;EXOC4,non_coding_transcript_exon_variant,,ENST00000486013,;	1521	161	126	SUCCESS
HDAC9	9734	.	GRCh37	7	18633535	18633535	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	21	189	0	ENST00000432645.2:c.538G>A	p.Ala180Thr	p.A180T	ENST00000432645	NM_058176.2	180	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47553.1	547	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCCCAC	NONE	.	.	PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.857)	.	tolerated(0.79)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Ala183Thr,ENST00000401921,;HDAC9,missense_variant,p.Ala180Thr,ENST00000405010,;HDAC9,missense_variant,p.Ala183Thr,ENST00000441542,;HDAC9,missense_variant,p.Ala180Thr,ENST00000406451,;HDAC9,missense_variant,p.Ala152Thr,ENST00000456174,;HDAC9,missense_variant,p.Ala180Thr,ENST00000432645,;HDAC9,missense_variant,p.Ala180Thr,ENST00000428307,;HDAC9,missense_variant,p.Ala222Thr,ENST00000417496,;HDAC9,missense_variant,p.Ala211Thr,ENST00000406072,;HDAC9,missense_variant,p.Ala147Thr,ENST00000524023,;HDAC9,downstream_gene_variant,,ENST00000413509,;HDAC9,downstream_gene_variant,,ENST00000413380,;HDAC9,downstream_gene_variant,,ENST00000441986,;HDAC9,downstream_gene_variant,,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000476135,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,downstream_gene_variant,,ENST00000446646,;	547	189	131	SUCCESS
ZP3	7784	.	GRCh37	7	76062261	76062261	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763664408	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	76	0	ENST00000394857.3:c.449G>T	p.Ser150Ile	p.S150I	ENST00000394857	NM_001110354.1	150	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47618.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGCCAGG	NONE	byFrequency	.	PROSITE_profiles:PS51034,hmmpanther:PTHR11576:SF2,hmmpanther:PTHR11576,Pfam_domain:PF00100,SMART_domains:SM00241	.	.	ENSP00000378326	.	3/8	.	.	.	.	.	.	.	.	rs763664408	3/8	PASS	ENST00000394857	Transcript	.	.	ENSG00000188372	13189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ZP3_HUMAN	ZP3	HGNC	Q2XN66_HUMAN,E9PFI9_HUMAN	.	UPI000013CF77	SNV	ZP3,missense_variant,p.Ser150Ile,ENST00000394857,;ZP3,missense_variant,p.Ser99Ile,ENST00000336517,;ZP3,5_prime_UTR_variant,,ENST00000416245,;ZP3,upstream_gene_variant,,ENST00000394860,;ZP3,upstream_gene_variant,,ENST00000479793,;ZP3,upstream_gene_variant,,ENST00000466960,;	507	76	89	SUCCESS
PCLO	27445	.	GRCh37	7	82435139	82435139	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	14	178	0	ENST00000333891.9:c.14798C>T	p.Pro4933Leu	p.P4933L	ENST00000333891	NM_033026.5	4933	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47630.1	14798	MUTECT|MUSE|VARSCANS	.	TGGGAGGCTTT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro4933Leu,ENST00000333891,;PCLO,non_coding_transcript_exon_variant,,ENST00000432078,;	15136	178	160	SUCCESS
GRHL2	79977	.	GRCh37	8	102611376	102611376	+	synonymous_variant	Silent	SNP	G	G	A	rs267601683	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	56	272	0	ENST00000251808.3:c.1095G>A	p.Ala365=	p.A365=	ENST00000251808	NM_024915.3	365	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34931.1	1095	RADIA|MUTECT|MUSE|VARSCANS	not_provided	GAGGCGAAGGT	NONE	byFrequency|byCluster	.	Pfam_domain:PF04516,hmmpanther:PTHR11037:SF17,hmmpanther:PTHR11037	.	.	ENSP00000251808	.	8/16	.	.	.	.	.	.	.	.	rs267601683,COSM1453668	8/16	PASS	ENST00000251808	Transcript	1	.	ENSG00000083307	2799	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	0,1	GRHL2_HUMAN	GRHL2	HGNC	.	.	UPI000013CD16	SNV	GRHL2,synonymous_variant,p.%3D,ENST00000251808,;GRHL2,synonymous_variant,p.%3D,ENST00000395927,;	1433	272	270	SUCCESS
COL22A1	169044	.	GRCh37	8	139838990	139838990	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372910376	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	106	0	ENST00000303045.6:c.880G>T	p.Ala294Ser	p.A294S	ENST00000303045	NM_152888.1	294	Gcc/Tcc	0	T:0.0002	.	.	.	.	A	A/S	protein_coding	YES	CCDS6376.1	880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGCGTACT	NONE	byCluster	.	SMART_domains:SM00210,Superfamily_domains:SSF49899	.	T:0	ENSP00000303153	.	6/65	.	.	.	.	.	.	.	.	rs372910376	6/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Ala294Ser,ENST00000303045,;COL22A1,missense_variant,p.Ala294Ser,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000517515,;	1327	106	124	SUCCESS
MTMR7	9108	.	GRCh37	8	17198946	17198946	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1397789228	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	79	1	ENST00000180173.5:c.658G>A	p.Glu220Lys	p.E220K	ENST00000180173	NM_004686.4	220	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34851.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCGTCCT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000180173	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000180173	Transcript	.	.	ENSG00000003987	7454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	deleterious(0.02)	.	MTMR7_HUMAN	MTMR7	HGNC	I0EZ69_HUMAN,B4E1E5_HUMAN,B4E1B6_HUMAN	.	UPI00004DFD27	SNV	MTMR7,missense_variant,p.Glu220Lys,ENST00000521857,;MTMR7,missense_variant,p.Glu220Lys,ENST00000180173,;MTMR7,non_coding_transcript_exon_variant,,ENST00000523571,;MTMR7,non_coding_transcript_exon_variant,,ENST00000518272,;MTMR7,non_coding_transcript_exon_variant,,ENST00000519122,;MTMR7,3_prime_UTR_variant,,ENST00000517317,;	693	80	81	SUCCESS
EBF2	64641	.	GRCh37	8	25898461	25898461	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	483	45	450	0	ENST00000520164.1:c.346A>C	p.Ser116Arg	p.S116R	ENST00000520164	NM_022659.3	116	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS43726.1	346	MUTECT|MUSE|VARSCANS	.	GTTGCTGTAGA	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000430241	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000520164	Transcript	.	.	ENSG00000221818	19090	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.942)	.	deleterious(0.01)	.	COE2_HUMAN	EBF2	HGNC	B7Z934_HUMAN,B2RNT0_HUMAN	.	UPI0000DD7EC9	SNV	EBF2,missense_variant,p.Ser116Arg,ENST00000520164,;EBF2,5_prime_UTR_variant,,ENST00000408929,;EBF2,non_coding_transcript_exon_variant,,ENST00000517825,;	884	450	529	SUCCESS
PREX2	80243	.	GRCh37	8	69104749	69104749	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs562309459	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	72	0	ENST00000288368.4:c.4593C>A	p.Ser1531Arg	p.S1531R	ENST00000288368	NM_024870.2	1531	agC/agA	0	.	T:0	.	T:0	.	A	S/R	protein_coding	YES	CCDS6201.1	4593	MUTECT|VARSCANS	.	AGCAGCGGTGT	NONE	by1000G	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	T:0	.	ENSP00000288368	T:0	37/40	.	.	.	.	.	.	.	.	rs562309459	37/40	PASS	ENST00000288368	Transcript	.	T:0.0002	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.374)	T:0.001	deleterious(0)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ser1531Arg,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000522247,;PREX2,non_coding_transcript_exon_variant,,ENST00000520235,;	4870	72	60	SUCCESS
STK3	6788	.	GRCh37	8	99560362	99560362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	30	175	0	ENST00000419617.2:c.976A>T	p.Met326Leu	p.M326L	ENST00000419617	NM_006281.3	326	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS59108.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGGTGT	NONE	.	.	hmmpanther:PTHR24361:SF247,hmmpanther:PTHR24361	.	.	ENSP00000429744	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000523601	Transcript	.	.	ENSG00000104375	11406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.25)	.	.	STK3	HGNC	B3KYA7_HUMAN	.	UPI00004FB517	SNV	STK3,missense_variant,p.Met354Leu,ENST00000523601,;STK3,missense_variant,p.Met326Leu,ENST00000419617,;STK3,missense_variant,p.Met215Leu,ENST00000518165,;STK3,non_coding_transcript_exon_variant,,ENST00000523159,;STK3,non_coding_transcript_exon_variant,,ENST00000518582,;STK3,non_coding_transcript_exon_variant,,ENST00000520440,;	1460	175	140	SUCCESS
C9orf171	0	.	GRCh37	9	135413022	135413022	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs182716958	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	23	108	0	ENST00000343036.2:c.667C>T	p.Arg223Trp	p.R223W	ENST00000343036	NM_207417.1	223	Cgg/Tgg	0	T:0	T:0.0008	.	T:0	.	T	R/W	protein_coding	YES	CCDS6949.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCGGTAC	NONE	byCluster|by1000G	.	Pfam_domain:PF14825	T:0	T:0.0002	ENSP00000343290	T:0	5/7	.	.	.	.	.	.	.	.	rs182716958,COSM3367615	5/7	PASS	ENST00000343036	Transcript	.	T:0.0002	ENSG00000188523	33776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	T:0	deleterious(0)	0,1	CI171_HUMAN	C9orf171	HGNC	.	.	UPI00001C109C	SNV	C9orf171,missense_variant,p.Arg223Trp,ENST00000343036,;C9orf171,missense_variant,p.Arg187Trp,ENST00000393216,;	715	108	117	SUCCESS
TLR8	51311	.	GRCh37	X	12939183	12939183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	80	0	ENST00000218032.6:c.2024T>C	p.Met675Thr	p.M675T	ENST00000218032	NM_138636.4	675	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS14152.1	2024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATATGTTAA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.53)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Met693Thr,ENST00000311912,;TLR8,missense_variant,p.Met675Thr,ENST00000218032,;	2111	80	130	SUCCESS
OTUD5	55593	.	GRCh37	X	48814841	48814841	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	65	0	ENST00000156084.4:c.-9A>G		p.*3*	ENST00000156084	NM_017602.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14313.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCACTGCCGA	NONE	.	.	.	.	.	ENSP00000156084	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000156084	Transcript	.	.	ENSG00000068308	25402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTUD5_HUMAN	OTUD5	HGNC	H7BZQ3_HUMAN	.	UPI000006ED2A	SNV	OTUD5,5_prime_UTR_variant,,ENST00000376488,;OTUD5,5_prime_UTR_variant,,ENST00000156084,;OTUD5,5_prime_UTR_variant,,ENST00000396743,;OTUD5,intron_variant,,ENST00000428668,;OTUD5,upstream_gene_variant,,ENST00000455452,;KCND1,downstream_gene_variant,,ENST00000218176,;KCND1,downstream_gene_variant,,ENST00000376477,;RNU6-722P,downstream_gene_variant,,ENST00000411377,;OTUD5,upstream_gene_variant,,ENST00000484499,;	53	65	77	SUCCESS
TRO	7216	.	GRCh37	X	54955568	54955598	+	frameshift_variant	Frame_Shift_Del	DEL	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	76	0	ENST00000173898.7:c.2411_2441del	p.Ser804MetfsTer140	p.S804Mfs*140	ENST00000173898	NM_001039705.2	804	aGTTTCAGCAGTGAAGCCAGCATTAGCTTTGGt/at	0	.	.	.	.	.	-	SFSSEASISFG/X	protein_coding	YES	CCDS43959.1	2411-2441	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACTAGTTTCAGCAGTGAAGCCAGCATTAGCTTTGGTGGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	deletion	TRO,frameshift_variant,p.Ser407MetfsTer140,ENST00000375041,;TRO,frameshift_variant,p.Ser335MetfsTer140,ENST00000420798,;TRO,frameshift_variant,p.Ser804MetfsTer140,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000545676,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	2523-2553	76	113	SUCCESS
SPIN4	139886	.	GRCh37	X	62570624	62570624	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	38	76	0	ENST00000335144.3:c.75C>T	p.His25=	p.H25=	ENST00000335144	NM_001012968.2	25	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS43964.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGTGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10405:SF9,hmmpanther:PTHR10405	.	.	ENSP00000334163	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335144	Transcript	.	.	ENSG00000186767	27040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIN4_HUMAN	SPIN4	HGNC	.	.	UPI000013FD3C	SNV	SPIN4,synonymous_variant,p.%3D,ENST00000335144,;SPIN4,synonymous_variant,p.%3D,ENST00000374884,;RP11-357C3.3,intron_variant,,ENST00000610234,;RP11-357C3.3,intron_variant,,ENST00000610088,;SPIN4-AS1,intron_variant,,ENST00000451979,;	595	76	75	SUCCESS
MAGEE2	139599	.	GRCh37	X	75004287	75004287	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs773363908	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	23	63	0	ENST00000373359.2:c.600G>A	p.Trp200Ter	p.W200*	ENST00000373359	NM_138703.4	200	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS14431.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCCCAAAT	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	rs773363908,COSM3914243	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,stop_gained,p.Trp200Ter,ENST00000373359,;	793	63	100	SUCCESS
CHM	1121	.	GRCh37	X	85218969	85218969	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	229	57	226	0	ENST00000357749.2:c.403G>C	p.Asp135His	p.D135H	ENST00000357749	NM_000390.2	135	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS14454.1	403	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCTGCAG	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000350386	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000357749	Transcript	.	.	ENSG00000188419	1940	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.08)	.	RAE1_HUMAN	CHM	HGNC	B4DRL9_HUMAN	.	UPI0000049C8C	SNV	CHM,missense_variant,p.Asp135His,ENST00000357749,;CHM,5_prime_UTR_variant,,ENST00000537751,;CHM,intron_variant,,ENST00000467744,;	433	226	286	SUCCESS
PCDH11X	27328	.	GRCh37	X	91090988	91090988	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761488640	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	89	142	1	ENST00000373094.1:c.485C>T	p.Ala162Val	p.A162V	ENST00000373094	NM_032968.3	162	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14461.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGGCTG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	1/7	.	.	.	.	.	.	.	.	rs761488640,COSM3372348,COSM3372352,COSM3372351,COSM3372350,COSM3372349	1/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	benign(0.086)	.	tolerated(0.27)	0,1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Ala162Val,ENST00000373088,;PCDH11X,missense_variant,p.Ala162Val,ENST00000361724,;PCDH11X,missense_variant,p.Ala162Val,ENST00000395337,;PCDH11X,missense_variant,p.Ala162Val,ENST00000298274,;PCDH11X,missense_variant,p.Ala162Val,ENST00000504220,;PCDH11X,missense_variant,p.Ala162Val,ENST00000406881,;PCDH11X,missense_variant,p.Ala162Val,ENST00000373094,;PCDH11X,missense_variant,p.Ala162Val,ENST00000373097,;PCDH11X,missense_variant,p.Ala162Val,ENST00000361655,;	1330	143	209	SUCCESS
SORCS3	22986	.	GRCh37	10	106959776	106959776	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	126	0	ENST00000369699.4:c.-114C>T		p.*38*	ENST00000369699		677		0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7558.1	2029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCTCCGC	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000358715	.	15/27	.	.	.	.	.	.	.	.	.	15/27	nonpreferredpair	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.88)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Leu677Phe,ENST00000369701,;SORCS3,5_prime_UTR_variant,,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	2256	126	138	SUCCESS
PFKP	5214	.	GRCh37	10	3146084	3146084	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1313326199	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	57	0	ENST00000381125.4:c.568G>A	p.Ala190Thr	p.A190T	ENST00000381125	NM_002627.4	190	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7059.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGCCCTG	NONE	.	.	Prints_domain:PR00476,Superfamily_domains:SSF53784,PIRSF_domain:PIRSF000533,Gene3D:3.40.50.450,TIGRFAM_domain:TIGR02478,Pfam_domain:PF00365,hmmpanther:PTHR13697:SF5,hmmpanther:PTHR13697,HAMAP:MF_00339	.	.	ENSP00000370517	.	5/22	.	.	.	.	.	.	.	.	.	5/22	nonpreferredpair	ENST00000381125	Transcript	.	.	ENSG00000067057	8878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	K6PP_HUMAN	PFKP	HGNC	Q5VSR6_HUMAN,Q5VSR5_HUMAN,B1APP8_HUMAN,B1APP6_HUMAN	.	UPI00000012D2	SNV	PFKP,missense_variant,p.Ala152Thr,ENST00000407806,;PFKP,missense_variant,p.Ala190Thr,ENST00000381125,;PFKP,missense_variant,p.Ala182Thr,ENST00000381075,;PFKP,upstream_gene_variant,,ENST00000468050,;PFKP,downstream_gene_variant,,ENST00000607886,;PFKP,upstream_gene_variant,,ENST00000415005,;PFKP,non_coding_transcript_exon_variant,,ENST00000421751,;PFKP,upstream_gene_variant,,ENST00000460445,;	644	57	65	SUCCESS
CCNYL2	414194	.	GRCh37	10	42947128	42947128	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs761540025	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	118	0	ENST00000483242.3:n.627T>C		p.*209*	ENST00000483242				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTATATCT	NONE	byFrequency|byCluster	.	.	.	.	.	.	3/9	.	.	.	.	.	.	.	.	rs761540025	3/9	nonpreferredpair	ENST00000483242	Transcript	.	.	ENSG00000182632	23495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CCNYL2	HGNC	.	.	.	SNV	CCNYL2,non_coding_transcript_exon_variant,,ENST00000483242,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000426433,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000472090,;	627	118	118	SUCCESS
PRKCQ	5588	.	GRCh37	10	6470193	6470193	+	synonymous_variant	Silent	SNP	G	G	T	rs777361364	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	34	123	0	ENST00000263125.5:c.2097C>A	p.Pro699=	p.P699=	ENST00000263125	NM_006257.3	699	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7079.1	2097	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGGGGTT	NONE	.	.	PROSITE_profiles:PS51285,hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,Pfam_domain:PF00433,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105	.	.	ENSP00000263125	.	18/18	.	.	.	.	.	.	.	.	rs777361364	18/18	nonpreferredpair	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,synonymous_variant,p.%3D,ENST00000397176,;PRKCQ,synonymous_variant,p.%3D,ENST00000263125,;PRKCQ,synonymous_variant,p.%3D,ENST00000539722,;	2197	123	183	SUCCESS
LCOR	84458	.	GRCh37	10	98715171	98715171	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	23	147	0	ENST00000356016.3:c.796del	p.Glu266SerfsTer14	p.E266Sfs*14	ENST00000356016	NM_032440.3	265	tGg/tg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS7451.1	794	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTTGGGAGT	NONE	.	.	hmmpanther:PTHR21545	.	.	ENSP00000360138	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000371097	Transcript	.	.	ENSG00000196233	29503	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LCOR_HUMAN	LCOR	HGNC	.	.	UPI0000160218	deletion	LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000371103,;LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000371097,;LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000356016,;LCOR,frameshift_variant,p.Glu266SerfsTer14,ENST00000540664,;LCOR,intron_variant,,ENST00000463415,;LCOR,intron_variant,,ENST00000498444,;	1340	147	150	SUCCESS
ZBED5	58486	.	GRCh37	11	10875696	10875696	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1285492487	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	11	215	0	ENST00000413761.2:c.797G>C	p.Arg266Thr	p.R266T	ENST00000413761		266	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	.	797	MUTECT|MUSE	.	TCAGTCTACAA	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF86	.	.	ENSP00000398106	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000432999	Transcript	.	.	ENSG00000236287	30803	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.799)	.	deleterious(0.02)	.	ZBED5_HUMAN	ZBED5	HGNC	E9PNT1_HUMAN,E9PM71_HUMAN,E9PJT5_HUMAN,E9PJ57_HUMAN	.	UPI000013CCBF	SNV	ZBED5,missense_variant,p.Arg266Thr,ENST00000432999,;ZBED5,missense_variant,p.Arg266Thr,ENST00000413761,;ZBED5,downstream_gene_variant,,ENST00000528289,;ZBED5,downstream_gene_variant,,ENST00000534690,;ZBED5,downstream_gene_variant,,ENST00000526852,;ZBED5,downstream_gene_variant,,ENST00000526020,;ZBED5-AS1,upstream_gene_variant,,ENST00000529014,;ZBED5-AS1,upstream_gene_variant,,ENST00000501079,;ZBED5,intron_variant,,ENST00000533925,;ZBED5,intron_variant,,ENST00000525350,;ZBED5,downstream_gene_variant,,ENST00000530570,;	1296	215	196	SUCCESS
NXPE4	54827	.	GRCh37	11	114453455	114453455	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111330181	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	368	58	461	0	ENST00000375478.3:c.385C>T	p.Arg129Cys	p.R129C	ENST00000375478	NM_001077639.1	129	Cgc/Tgc	0	A:0	A:0.0008	.	A:0	.	A	R/C	protein_coding	YES	CCDS41718.1	385	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3,Gene3D:2.60.40.10,Superfamily_domains:SSF81296	A:0	A:0.0003	ENSP00000364627	A:0	3/6	.	.	.	.	.	.	.	.	rs111330181,COSM381866	3/6	nonpreferredpair	ENST00000375478	Transcript	.	A:0.0002	ENSG00000137634	23117	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.025)	A:0	tolerated(0.2)	0,1	NXPE4_HUMAN	NXPE4	HGNC	.	.	UPI00000477F3	SNV	NXPE4,missense_variant,p.Arg129Cys,ENST00000375478,;NXPE4,intron_variant,,ENST00000424261,;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	566	461	426	SUCCESS
SLC37A4	2542	.	GRCh37	11	118896705	118896705	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782703235	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	13	106	0	ENST00000545985.1:c.956G>T	p.Arg319Leu	p.R319L	ENST00000545985	NM_001164277.1	319	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	.	956	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCGGAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF188,hmmpanther:PTHR11662,TIGRFAM_domain:TIGR00881,Pfam_domain:PF07690,Gene3D:1.20.1250.20,PIRSF_domain:PIRSF002808,Superfamily_domains:SSF103473	.	.	ENSP00000476176	.	9/12	.	.	.	.	.	.	.	.	rs782703235	9/12	nonpreferredpair	ENST00000357590	Transcript	.	.	ENSG00000137700	4061	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.066)	.	tolerated(0.2)	.	.	SLC37A4	HGNC	U3KQS2_HUMAN	.	UPI0003903FB9	SNV	SLC37A4,missense_variant,p.Arg246Leu,ENST00000538950,;SLC37A4,missense_variant,p.Arg319Leu,ENST00000357590,;SLC37A4,missense_variant,p.Arg318Leu,ENST00000330775,;SLC37A4,missense_variant,p.Arg319Leu,ENST00000545985,;TRAPPC4,downstream_gene_variant,,ENST00000533632,;TRAPPC4,downstream_gene_variant,,ENST00000533058,;TRAPPC4,downstream_gene_variant,,ENST00000528230,;TRAPPC4,downstream_gene_variant,,ENST00000434101,;TRAPPC4,downstream_gene_variant,,ENST00000359005,;TRAPPC4,downstream_gene_variant,,ENST00000525303,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000525102,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000529510,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000527992,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000525372,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000525039,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000530407,;SLC37A4,downstream_gene_variant,,ENST00000526626,;TRAPPC4,downstream_gene_variant,,ENST00000526141,;SLC37A4,downstream_gene_variant,,ENST00000534384,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000526275,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000532085,;SLC37A4,non_coding_transcript_exon_variant,,ENST00000524428,;TRAPPC4,downstream_gene_variant,,ENST00000525079,;TRAPPC4,downstream_gene_variant,,ENST00000533012,;TRAPPC4,downstream_gene_variant,,ENST00000524797,;TRAPPC4,downstream_gene_variant,,ENST00000531290,;TRAPPC4,downstream_gene_variant,,ENST00000533149,;SLC37A4,downstream_gene_variant,,ENST00000525787,;SLC37A4,downstream_gene_variant,,ENST00000532888,;	1397	106	112	SUCCESS
ZNF202	7753	.	GRCh37	11	123598880	123598880	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	12	196	0	ENST00000336139.4:c.793T>C	p.Tyr265His	p.Y265H	ENST00000336139		265	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS8443.1	793	MUTECT|MUSE	.	GACATATTCTC	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194,PROSITE_profiles:PS50805	.	.	ENSP00000337724	.	6/8	.	.	.	.	.	.	.	.	.	6/8	nonpreferredpair	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.29)	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,missense_variant,p.Tyr265His,ENST00000529691,;ZNF202,missense_variant,p.Tyr265His,ENST00000336139,;ZNF202,missense_variant,p.Tyr265His,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	1156	196	221	SUCCESS
ZNF202	7753	.	GRCh37	11	123600353	123600353	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	79	0	ENST00000336139.4:c.583G>T	p.Glu195Ter	p.E195*	ENST00000336139		195	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8443.1	583	MUTECT|MUSE|VARSCANS	.	CTCTTCCTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	.	.	ENSP00000337724	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,stop_gained,p.Glu195Ter,ENST00000529691,;ZNF202,stop_gained,p.Glu195Ter,ENST00000336139,;ZNF202,stop_gained,p.Glu195Ter,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	946	79	107	SUCCESS
OTOG	340990	.	GRCh37	11	17632361	17632361	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	69	0	ENST00000399391.2:c.5550G>T	p.Thr1850=	p.T1850=	ENST00000399391	NM_001277269.1	1850	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS59225.1	5550	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGACTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339	.	.	ENSP00000382323	.	35/55	.	.	.	.	.	.	.	.	.	35/55	nonpreferredpair	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,synonymous_variant,p.%3D,ENST00000399397,;OTOG,synonymous_variant,p.%3D,ENST00000342528,;OTOG,synonymous_variant,p.%3D,ENST00000399391,;	5550	69	60	SUCCESS
ANO5	203859	.	GRCh37	11	22297639	22297639	+	splice_acceptor_variant	Splice_Site	DEL	G	G	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	20	239	0	ENST00000324559.8:c.2415del		p.X805_splice	ENST00000324559	NM_001142649.1	805		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31444.1	.	INDELOCATOR|VARSCANI	.	TTTTCAGGTACA	NONE	.	.	.	.	.	ENSP00000315371	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000324559	Transcript	.	.	ENSG00000171714	27337	1	.	HIGH	20/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANO5_HUMAN	ANO5	HGNC	.	.	UPI000035B19B	deletion	ANO5,splice_acceptor_variant,p.Arg805SerfsTer29,ENST00000324559,;ANO5,splice_acceptor_variant,,ENST00000532043,;	.	239	257	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137653	40137653	+	synonymous_variant	Silent	SNP	G	G	T	rs768399802	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	18	182	0	ENST00000278198.2:c.190C>A	p.Arg64=	p.R64=	ENST00000278198		64	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31464.1	190	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCGAACAC	NONE	byFrequency	.	hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	rs768399802	2/2	nonpreferredpair	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,synonymous_variant,p.%3D,ENST00000528697,;LRRC4C,synonymous_variant,p.%3D,ENST00000278198,;LRRC4C,synonymous_variant,p.%3D,ENST00000530763,;LRRC4C,synonymous_variant,p.%3D,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2154	182	141	SUCCESS
OR52R1	119695	.	GRCh37	11	4825512	4825512	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	20	135	0	ENST00000356069.2:c.99G>T	p.Pro33=	p.P33=	ENST00000356069	NM_001005177.3	33	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31360.2	99	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACGGAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000348368	.	1/1	.	.	.	.	.	.	.	.	COSM429092,COSM429091	1/1	nonpreferredpair	ENST00000356069	Transcript	.	.	ENSG00000176937	15235	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	O52R1_HUMAN	OR52R1	HGNC	.	.	UPI0000140D5C	SNV	OR52R1,synonymous_variant,p.%3D,ENST00000380382,;OR52R1,synonymous_variant,p.%3D,ENST00000356069,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	99	135	124	SUCCESS
OR4A15	81328	.	GRCh37	11	55135486	55135486	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	31	232	0	ENST00000314706.3:c.127T>C	p.Leu43=	p.L43=	ENST00000314706	NM_001005275.1	43	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31500.1	127	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTTAGGG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,synonymous_variant,p.%3D,ENST00000314706,;	127	232	200	SUCCESS
OR5T2	219464	.	GRCh37	11	55999981	55999981	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	511	82	583	0	ENST00000313264.4:c.681T>G	p.Ser227=	p.S227=	ENST00000313264	NM_001004746.1	227	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31523.1	681	RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGAAAT	SITE|p.S227S|c.681T>G|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	COSM1260537,COSM360757,COSM1260538	1/1	nonpreferredpair	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	.	.	.	1,1,1	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,synonymous_variant,p.%3D,ENST00000313264,;	757	583	594	SUCCESS
TRIM49	57093	.	GRCh37	11	89537604	89537604	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	24	242	0	ENST00000329758.1:c.34del	p.Glu12AsnfsTer8	p.E12Nfs*8	ENST00000329758	NM_020358.2	12	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS8287.1	34	INDELOCATOR|VARSCANI	.	TGAGTTCCCCCT	NONE	.	.	hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000327604	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000329758	Transcript	.	.	ENSG00000168930	13431	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI49_HUMAN	TRIM49	HGNC	I1YAQ5_HUMAN	.	UPI000013431B	deletion	TRIM49,frameshift_variant,p.Glu12AsnfsTer8,ENST00000532501,;TRIM49,frameshift_variant,p.Glu12AsnfsTer8,ENST00000329758,;	363	242	192	SUCCESS
ALDH1L2	160428	.	GRCh37	12	105464456	105464456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	53	254	1	ENST00000258494.9:c.320T>C	p.Phe107Ser	p.F107S	ENST00000258494	NM_001034173.3	107	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS31891.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGAAAGGG	NONE	.	.	Gene3D:3.40.50.170,Pfam_domain:PF00551,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53328	.	.	ENSP00000258494	.	3/23	.	.	.	.	.	.	.	.	.	3/23	nonpreferredpair	ENST00000258494	Transcript	.	.	ENSG00000136010	26777	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	deleterious_low_confidence(0.02)	.	AL1L2_HUMAN	ALDH1L2	HGNC	.	.	UPI00000477A9	SNV	ALDH1L2,missense_variant,p.Phe107Ser,ENST00000424857,;ALDH1L2,missense_variant,p.Phe107Ser,ENST00000258494,;RP11-61E11.1,upstream_gene_variant,,ENST00000547750,;ALDH1L2,missense_variant,p.Phe107Ser,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000552427,;ALDH1L2,upstream_gene_variant,,ENST00000549335,;	461	255	299	SUCCESS
DNAH10	196385	.	GRCh37	12	124387605	124387605	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745751274	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	71	0	ENST00000409039.3:c.9406G>A	p.Glu3136Lys	p.E3136K	ENST00000409039	NM_207437.3	3136	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9255.2	9406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGAGGCC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000386770	.	56/78	.	.	.	.	.	.	.	.	rs745751274	56/78	nonpreferredpair	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Glu3136Lys,ENST00000409039,;	9431	71	89	SUCCESS
OVCH1	341350	.	GRCh37	12	29617463	29617463	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	18	161	0	ENST00000318184.5:c.2102C>A	p.Thr701Asn	p.T701N	ENST00000318184	NM_183378.2	701	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	.	2102	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGGTCACA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000326708	.	18/28	.	.	.	.	.	.	.	.	.	18/28	nonpreferredpair	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,missense_variant,p.Thr701Asn,ENST00000318184,;OVCH1-AS1,3_prime_UTR_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	2102	161	132	SUCCESS
KIAA1551	0	.	GRCh37	12	32137832	32137832	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	20	152	0	ENST00000312561.4:c.3943G>T	p.Glu1315Ter	p.E1315*	ENST00000312561	NM_018169.3	1315	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS8725.2	3943	RADIA|MUTECT|MUSE|VARSCANS	.	CTTATGAACAA	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,stop_gained,p.Glu1315Ter,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	4357	152	148	SUCCESS
KIF21A	55605	.	GRCh37	12	39726715	39726715	+	synonymous_variant	Silent	SNP	C	C	G	rs781262318	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	33	153	0	ENST00000361418.5:c.2682G>C	p.Thr894=	p.T894=	ENST00000361418		894	acG/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS53776.1	2682	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCGTTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398	.	.	ENSP00000354878	.	19/38	.	.	.	.	.	.	.	.	rs781262318	19/38	nonpreferredpair	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,synonymous_variant,p.%3D,ENST00000552961,;KIF21A,synonymous_variant,p.%3D,ENST00000361418,;KIF21A,synonymous_variant,p.%3D,ENST00000544797,;KIF21A,synonymous_variant,p.%3D,ENST00000395670,;KIF21A,synonymous_variant,p.%3D,ENST00000541463,;KIF21A,synonymous_variant,p.%3D,ENST00000361961,;KIF21A,upstream_gene_variant,,ENST00000551264,;KIF21A,upstream_gene_variant,,ENST00000551066,;KIF21A,upstream_gene_variant,,ENST00000552475,;KIF21A,synonymous_variant,p.%3D,ENST00000547108,;KIF21A,downstream_gene_variant,,ENST00000546817,;	2698	153	166	SUCCESS
KMT2D	8085	.	GRCh37	12	49443882	49443882	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	20	106	0	ENST00000301067.7:c.3489G>T	p.Val1163=	p.V1163=	ENST00000301067	NM_003482.3	1163	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44873.1	3489	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCACAGG	NONE	.	.	.	.	.	ENSP00000301067	.	11/54	.	.	.	.	.	.	.	.	.	11/54	nonpreferredpair	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000547610,;	3489	106	132	SUCCESS
BCDIN3D	144233	.	GRCh37	12	50236856	50236856	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	72	0	ENST00000333924.4:c.15G>T	p.Thr5=	p.T5=	ENST00000333924	NM_181708.2	5	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8790.1	15	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCGTGGG	NONE	.	.	.	.	.	ENSP00000335201	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000333924	Transcript	.	.	ENSG00000186666	27050	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BN3D2_HUMAN	BCDIN3D	HGNC	.	.	UPI0000160802	SNV	BCDIN3D,synonymous_variant,p.%3D,ENST00000333924,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;	57	72	64	SUCCESS
KRT5	3852	.	GRCh37	12	52910560	52910560	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs757760193	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	27	137	0	ENST00000252242.4:c.1300G>T	p.Glu434Ter	p.E434*	ENST00000252242	NM_000424.3	434	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8830.1	1300	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCGGCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF159,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000252242	.	7/9	.	.	.	.	.	.	.	.	rs757760193	7/9	nonpreferredpair	ENST00000252242	Transcript	.	.	ENSG00000186081	6442	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K2C5_HUMAN	KRT5	HGNC	Q9UEK9_HUMAN,F8VV57_HUMAN,B4DL32_HUMAN	.	UPI000013CD4B	SNV	KRT5,stop_gained,p.Glu142Ter,ENST00000548409,;KRT5,stop_gained,p.Glu434Ter,ENST00000252242,;KRT5,downstream_gene_variant,,ENST00000551275,;KRT5,downstream_gene_variant,,ENST00000551188,;KRT5,downstream_gene_variant,,ENST00000549420,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,non_coding_transcript_exon_variant,,ENST00000547890,;KRT5,non_coding_transcript_exon_variant,,ENST00000549511,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,downstream_gene_variant,,ENST00000551013,;KRT5,upstream_gene_variant,,ENST00000552952,;	1691	137	183	SUCCESS
SLC2A14	144195	.	GRCh37	12	7981450	7981450	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	25	190	0	ENST00000396589.2:c.595G>T	p.Glu199Ter	p.E199*	ENST00000396589	NM_153449.2	199	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8585.1	595	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTCCAGAC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473	.	.	ENSP00000440480	.	11/16	.	.	.	.	.	.	.	.	.	11/16	nonpreferredpair	ENST00000543909	Transcript	.	.	ENSG00000173262	18301	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GTR14_HUMAN	SLC2A14	HGNC	F5H6F6_HUMAN,F5GXP7_HUMAN	.	UPI000006D325	SNV	SLC2A14,stop_gained,p.Glu90Ter,ENST00000535295,;SLC2A14,stop_gained,p.Glu199Ter,ENST00000396589,;SLC2A14,stop_gained,p.Glu176Ter,ENST00000431042,;SLC2A14,stop_gained,p.Glu214Ter,ENST00000539924,;SLC2A14,stop_gained,p.Glu199Ter,ENST00000543909,;SLC2A14,stop_gained,p.Glu176Ter,ENST00000340749,;SLC2A14,stop_gained,p.Glu90Ter,ENST00000542546,;SLC2A14,intron_variant,,ENST00000542505,;SLC2A14,downstream_gene_variant,,ENST00000542916,;SLC2A14,downstream_gene_variant,,ENST00000535587,;SLC2A14,downstream_gene_variant,,ENST00000542782,;SLC2A14,downstream_gene_variant,,ENST00000535344,;SLC2A14,downstream_gene_variant,,ENST00000535266,;SLC2A14,downstream_gene_variant,,ENST00000535383,;SLC2A14,downstream_gene_variant,,ENST00000546234,;SLC2A14,downstream_gene_variant,,ENST00000537557,;SLC2A14,downstream_gene_variant,,ENST00000536594,;SLC2A14,downstream_gene_variant,,ENST00000539738,;	1355	190	194	SUCCESS
PPFIA2	8499	.	GRCh37	12	81763113	81763113	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	31	0	ENST00000549396.1:c.1267-140C>A		p.*423*	ENST00000549396	NM_003625.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55857.1	.	MUTECT|MUSE	.	AACAGGCAGCT	NONE	.	.	.	.	.	ENSP00000450337	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODIFIER	11/32	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,5_prime_UTR_variant,,ENST00000541570,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,;PPFIA2,5_prime_UTR_variant,,ENST00000553058,;PPFIA2,5_prime_UTR_variant,,ENST00000548670,;PPFIA2,intron_variant,,ENST00000333447,;PPFIA2,intron_variant,,ENST00000407050,;PPFIA2,intron_variant,,ENST00000443686,;PPFIA2,intron_variant,,ENST00000549325,;PPFIA2,intron_variant,,ENST00000550584,;PPFIA2,intron_variant,,ENST00000552948,;PPFIA2,intron_variant,,ENST00000548790,;PPFIA2,intron_variant,,ENST00000550359,;PPFIA2,intron_variant,,ENST00000549396,;PPFIA2,intron_variant,,ENST00000548586,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,5_prime_UTR_variant,,ENST00000551461,;	.	31	23	SUCCESS
LTA4H	4048	.	GRCh37	12	96406996	96406996	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	20	149	0	ENST00000228740.2:c.1349A>C	p.Tyr450Ser	p.Y450S	ENST00000228740	NM_000895.2	450	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS9059.1	1349	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTAGAGC	NONE	.	.	hmmpanther:PTHR11533:SF4,hmmpanther:PTHR11533,TIGRFAM_domain:TIGR02411,Gene3D:1.10.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000228740	.	14/19	.	.	.	.	.	.	.	.	.	14/19	nonpreferredpair	ENST00000228740	Transcript	.	.	ENSG00000111144	6710	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.3)	.	LKHA4_HUMAN	LTA4H	HGNC	Q49AK0_HUMAN	.	UPI0000111C40	SNV	LTA4H,missense_variant,p.Tyr450Ser,ENST00000228740,;LTA4H,missense_variant,p.Tyr426Ser,ENST00000552789,;LTA4H,missense_variant,p.Tyr426Ser,ENST00000413268,;RP11-256L6.3,downstream_gene_variant,,ENST00000551849,;LTA4H,non_coding_transcript_exon_variant,,ENST00000548375,;LTA4H,3_prime_UTR_variant,,ENST00000548852,;LTA4H,non_coding_transcript_exon_variant,,ENST00000547982,;LTA4H,non_coding_transcript_exon_variant,,ENST00000553041,;LTA4H,non_coding_transcript_exon_variant,,ENST00000547393,;LTA4H,upstream_gene_variant,,ENST00000537111,;LTA4H,downstream_gene_variant,,ENST00000552091,;	1491	149	147	SUCCESS
SACS	26278	.	GRCh37	13	23904756	23904756	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758721847	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	31	171	0	ENST00000382292.3:c.13259G>T	p.Cys4420Phe	p.C4420F	ENST00000382292		4420	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS9300.2	13259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCATTTT	NONE	byFrequency	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	rs758721847	10/10	nonpreferredpair	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Cys4420Phe,ENST00000382292,;SACS,missense_variant,p.Cys3670Phe,ENST00000402364,;SACS,missense_variant,p.Cys4420Phe,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	13848	171	138	SUCCESS
RB1	5925	.	GRCh37	13	49030478	49030479	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1566234123	.	TCGA-DD-A114-01	TCGA-DD-A114-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	83	0	ENST00000267163.4:c.1959dup	p.Val654SerfsTer14	p.V654Sfs*14	ENST00000267163	NM_000321.2	651	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS31973.1	1953-1954	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTATAAAAA	NONE	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01857,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	19/27	.	.	.	.	.	.	.	.	.	19/27	nonpreferredpair	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Val654SerfsTer14,ENST00000267163,;RB1,downstream_gene_variant,,ENST00000480491,;	2091-2092	83	80	SUCCESS
COMMD6	170622	.	GRCh37	13	76111799	76111799	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	65	0	ENST00000377615.3:c.54+1G>T		p.X18_splice	ENST00000377615	NM_001287394.1	18		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9452.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACCTGGT	NONE	.	.	.	.	.	ENSP00000348054	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000355801	Transcript	.	.	ENSG00000188243	24015	.	.	HIGH	2/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COMD6_HUMAN	COMMD6	HGNC	.	.	UPI000034ECDC	SNV	COMMD6,splice_donor_variant,,ENST00000406936,;COMMD6,splice_donor_variant,,ENST00000355801,;COMMD6,splice_donor_variant,,ENST00000377615,;COMMD6,upstream_gene_variant,,ENST00000377619,;COMMD6,splice_donor_variant,,ENST00000486516,;COMMD6,splice_donor_variant,,ENST00000497707,;COMMD6,non_coding_transcript_exon_variant,,ENST00000471682,;COMMD6,intron_variant,,ENST00000460675,;COMMD6,splice_donor_variant,,ENST00000477377,;COMMD6,splice_donor_variant,,ENST00000464050,;COMMD6,intron_variant,,ENST00000377612,;	.	65	72	SUCCESS
SLITRK6	84189	.	GRCh37	13	86370026	86370026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	125	0	ENST00000400286.2:c.618C>A	p.His206Gln	p.H206Q	ENST00000400286	NM_032229.2	206	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS41903.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGTGTTC	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	SNV	SLITRK6,missense_variant,p.His206Gln,ENST00000400286,;	1217	125	125	SUCCESS
CDC42BPB	9578	.	GRCh37	14	103430853	103430853	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781226769	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	37	0	ENST00000361246.2:c.2712C>A	p.Asn904Lys	p.N904K	ENST00000361246	NM_006035.3	904	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS9978.1	2712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGTTGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30,Pfam_domain:PF08826,Gene3D:1.20.5.340	.	.	ENSP00000355237	.	19/37	.	.	.	.	.	.	.	.	rs781226769	19/37	nonpreferredpair	ENST00000361246	Transcript	.	.	ENSG00000198752	1738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	tolerated(0.28)	.	MRCKB_HUMAN	CDC42BPB	HGNC	.	.	UPI000013D27E	SNV	CDC42BPB,missense_variant,p.Asn178Lys,ENST00000559043,;CDC42BPB,missense_variant,p.Asn904Lys,ENST00000361246,;	3001	37	55	SUCCESS
MYH7	4625	.	GRCh37	14	23889251	23889251	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	114	0	ENST00000355349.3:c.3529del	p.Asp1177ThrfsTer37	p.D1177Tfs*37	ENST00000355349	NM_000257.2	1177	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS9601.1	3529	INDELOCATOR|VARSCANI	.	CCAGGTCCCGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000347507	.	27/40	.	.	.	.	.	.	.	.	.	27/40	nonpreferredpair	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	deletion	MYH7,frameshift_variant,p.Asp1177ThrfsTer37,ENST00000355349,;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;	3692	114	69	SUCCESS
SYT16	83851	.	GRCh37	14	62551067	62551067	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	68	0	ENST00000430451.2:c.1588A>T	p.Ser530Cys	p.S530C	ENST00000430451	NM_031914.2	530	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45121.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCAGCCAT	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	.	ENSP00000394700	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,missense_variant,p.Ser530Cys,ENST00000430451,;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	1785	68	102	SUCCESS
SLC24A4	123041	.	GRCh37	14	92949118	92949118	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs563681958	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	17	84	0	ENST00000532405.1:c.1350G>T	p.Glu450Asp	p.E450D	ENST00000532405		450	gaG/gaT	0	.	A:0	.	A:0	.	T	E/D	protein_coding	YES	CCDS9903.2	1350	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGAAGTT	NONE	by1000G	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF21,TIGRFAM_domain:TIGR00367	A:0	.	ENSP00000431840	A:0	13/17	.	.	.	.	.	.	.	.	rs563681958	13/17	nonpreferredpair	ENST00000532405	Transcript	1	A:0.0002	ENSG00000140090	10978	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.516)	A:0.001	tolerated(0.07)	.	NCKX4_HUMAN	SLC24A4	HGNC	G3V505_HUMAN,B4DHR5_HUMAN	.	UPI000044C5DE	SNV	SLC24A4,missense_variant,p.Glu431Asp,ENST00000531433,;SLC24A4,missense_variant,p.Glu316Asp,ENST00000525557,;SLC24A4,missense_variant,p.Glu386Asp,ENST00000393265,;SLC24A4,missense_variant,p.Glu414Asp,ENST00000351924,;SLC24A4,missense_variant,p.Glu433Asp,ENST00000298877,;SLC24A4,missense_variant,p.Glu450Asp,ENST00000532405,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000526482,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000554925,;	1576	84	116	SUCCESS
IGHV4OR15-8	28317	.	GRCh37	15	22473044	22473044	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749413483	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	840	39	902	0	ENST00000557788.2:c.227G>A	p.Ser76Asn	p.S76N	ENST00000557788		76	aGc/aAc	0	.	.	.	.	.	T	S/N	IG_V_gene	YES	.	227	MUTECT|MUSE	.	TGGGGCTCCCA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000473987	.	2/2	.	.	.	.	.	.	.	.	rs749413483	2/2	nonpreferredpair	ENST00000557788	Transcript	.	.	ENSG00000259261	5658	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.24)	.	IV4F8_HUMAN	IGHV4OR15-8	HGNC	.	.	UPI0003335098	SNV	IGHV4OR15-8,missense_variant,p.Ser76Asn,ENST00000557788,;	227	902	880	SUCCESS
DUT	1854	.	GRCh37	15	48634006	48634006	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	37	0	ENST00000331200.3:c.703-213A>G		p.*235*	ENST00000331200	NM_001025248.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32231.1	.	MUTECT|MUSE|VARSCANS	.	CTGTGAACTTC	NONE	.	.	.	.	.	ENSP00000370376	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000331200	Transcript	.	.	ENSG00000128951	3078	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUT_HUMAN	DUT	HGNC	.	.	UPI000035ECE0	SNV	DUT,3_prime_UTR_variant,,ENST00000559540,;DUT,intron_variant,,ENST00000558813,;DUT,intron_variant,,ENST00000455976,;DUT,intron_variant,,ENST00000331200,;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000558367,;DUT,downstream_gene_variant,,ENST00000559935,;DUT,downstream_gene_variant,,ENST00000561350,;DUT,intron_variant,,ENST00000559852,;DUT,intron_variant,,ENST00000558978,;	.	37	20	SUCCESS
SMG1	23049	.	GRCh37	16	18887682	18887682	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1224633517	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	60	318	1	ENST00000446231.2:c.1654G>A	p.Val552Met	p.V552M	ENST00000446231		552	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45430.1	1654	RADIA|MUSE|VARSCANS	.	GAGCACTGCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	.	.	ENSP00000402515	.	13/63	.	.	.	.	.	.	.	.	.	13/63	nonpreferredpair	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.034)	.	deleterious(0.03)	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,missense_variant,p.Val526Met,ENST00000565224,;SMG1,missense_variant,p.Val442Met,ENST00000565324,;SMG1,missense_variant,p.Val470Met,ENST00000561947,;SMG1,missense_variant,p.Val552Met,ENST00000446231,;SMG1,missense_variant,p.Val552Met,ENST00000389467,;SMG1,upstream_gene_variant,,ENST00000563235,;SMG1,non_coding_transcript_exon_variant,,ENST00000568239,;SMG1,upstream_gene_variant,,ENST00000568038,;	2067	319	270	SUCCESS
TSC2	7249	.	GRCh37	16	2098719	2098719	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs137854105	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	53	254	1	ENST00000219476.3:c.103C>T	p.Gln35Ter	p.Q35*	ENST00000219476	NM_000548.3	35	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10458.1	103	RADIA|MUTECT|MUSE|VARSCANS	not_provided	GTAAACAGACG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	.	.	ENSP00000219476	.	2/42	.	.	.	.	.	.	.	.	rs137854105	2/42	nonpreferredpair	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Gln35Ter,ENST00000439673,;TSC2,stop_gained,p.Gln35Ter,ENST00000219476,;TSC2,stop_gained,p.Gln46Ter,ENST00000568454,;TSC2,stop_gained,p.Gln35Ter,ENST00000401874,;TSC2,stop_gained,p.Gln35Ter,ENST00000353929,;TSC2,stop_gained,p.Gln35Ter,ENST00000350773,;TSC2,intron_variant,,ENST00000382538,;NTHL1,upstream_gene_variant,,ENST00000566380,;NTHL1,upstream_gene_variant,,ENST00000219066,;TSC2,upstream_gene_variant,,ENST00000432909,;NTHL1,upstream_gene_variant,,ENST00000562951,;TSC2,stop_gained,p.Gln35Ter,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000461648,;NTHL1,upstream_gene_variant,,ENST00000562120,;NTHL1,upstream_gene_variant,,ENST00000568513,;NTHL1,upstream_gene_variant,,ENST00000561841,;NTHL1,upstream_gene_variant,,ENST00000565406,;NTHL1,upstream_gene_variant,,ENST00000567727,;	733	255	234	SUCCESS
MLST8	64223	.	GRCh37	16	2256103	2256103	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	78	0	ENST00000397124.1:c.17G>C	p.Gly6Ala	p.G6A	ENST00000397124	NM_001199174.1	6	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS10462.2	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCACGG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19842	.	.	ENSP00000456405	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000569417	Transcript	.	.	ENSG00000167965	24825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious_low_confidence(0.02)	.	LST8_HUMAN	MLST8	HGNC	H3BQ74_HUMAN,H3BN58_HUMAN	.	UPI000006D8E8	SNV	MLST8,missense_variant,p.Gly25Ala,ENST00000301725,;MLST8,missense_variant,p.Gly6Ala,ENST00000562479,;MLST8,missense_variant,p.Gly6Ala,ENST00000569457,;MLST8,missense_variant,p.Gly6Ala,ENST00000563179,;MLST8,missense_variant,p.Gly6Ala,ENST00000397124,;MLST8,missense_variant,p.Gly6Ala,ENST00000564088,;MLST8,missense_variant,p.Gly6Ala,ENST00000301724,;MLST8,missense_variant,p.Gly6Ala,ENST00000562352,;MLST8,missense_variant,p.Gly6Ala,ENST00000569417,;MLST8,missense_variant,p.Gly6Ala,ENST00000565250,;MLST8,missense_variant,p.Gly6Ala,ENST00000382450,;BRICD5,downstream_gene_variant,,ENST00000328540,;BRICD5,downstream_gene_variant,,ENST00000566018,;BRICD5,downstream_gene_variant,,ENST00000562360,;AC009065.3,upstream_gene_variant,,ENST00000517149,;MLST8,non_coding_transcript_exon_variant,,ENST00000561651,;MLST8,non_coding_transcript_exon_variant,,ENST00000562844,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,upstream_gene_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,missense_variant,p.Gly6Ala,ENST00000563107,;MLST8,missense_variant,p.Gly6Ala,ENST00000567282,;MLST8,missense_variant,p.Gly6Ala,ENST00000565687,;MLST8,missense_variant,p.Gly6Ala,ENST00000567623,;MLST8,missense_variant,p.Gly6Ala,ENST00000570224,;MLST8,missense_variant,p.Gly6Ala,ENST00000566835,;MLST8,missense_variant,p.Gly6Ala,ENST00000562851,;MLST8,missense_variant,p.Gly6Ala,ENST00000565717,;MLST8,non_coding_transcript_exon_variant,,ENST00000566653,;MLST8,non_coding_transcript_exon_variant,,ENST00000564294,;MLST8,non_coding_transcript_exon_variant,,ENST00000568194,;MLST8,non_coding_transcript_exon_variant,,ENST00000564679,;MLST8,non_coding_transcript_exon_variant,,ENST00000567928,;MLST8,non_coding_transcript_exon_variant,,ENST00000565330,;MLST8,non_coding_transcript_exon_variant,,ENST00000565269,;MLST8,non_coding_transcript_exon_variant,,ENST00000568542,;MLST8,non_coding_transcript_exon_variant,,ENST00000563067,;BRICD5,downstream_gene_variant,,ENST00000566795,;MLST8,upstream_gene_variant,,ENST00000569848,;MLST8,upstream_gene_variant,,ENST00000562239,;MLST8,upstream_gene_variant,,ENST00000562392,;	371	78	86	SUCCESS
DPEP2	64174	.	GRCh37	16	68027109	68027109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	47	0	ENST00000393847.1:c.7C>A	p.Pro3Thr	p.P3T	ENST00000393847	NM_022355.3	3	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS10857.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGCTGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10443:SF9,hmmpanther:PTHR10443	.	.	ENSP00000412549	.	3/12	.	.	.	.	.	.	.	.	.	3/12	nonpreferredpair	ENST00000412757	Transcript	.	.	ENSG00000167261	23028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.11)	.	DPEP2_HUMAN	DPEP2	HGNC	I3L4H3_HUMAN,I3L348_HUMAN	.	UPI000013D7DC	SNV	DPEP2,missense_variant,p.Pro3Thr,ENST00000574865,;DPEP2,missense_variant,p.Pro3Thr,ENST00000572888,;DPEP2,missense_variant,p.Pro3Thr,ENST00000393847,;DPEP2,missense_variant,p.Pro3Thr,ENST00000572624,;DPEP2,missense_variant,p.Pro3Thr,ENST00000412757,;DUS2,intron_variant,,ENST00000571081,;DUS2,intron_variant,,ENST00000570709,;DPEP2,intron_variant,,ENST00000573808,;DPEP2,intron_variant,,ENST00000575510,;DUS2,upstream_gene_variant,,ENST00000575677,;DPEP2,missense_variant,p.Pro3Thr,ENST00000575203,;DPEP2,non_coding_transcript_exon_variant,,ENST00000574316,;DPEP2,non_coding_transcript_exon_variant,,ENST00000268795,;	673	47	61	SUCCESS
PLCG2	5336	.	GRCh37	16	81927388	81927388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	89	0	ENST00000359376.3:c.1061G>T	p.Arg354Leu	p.R354L	ENST00000359376	NM_002661.3	354	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS42204.1	1061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGCTGCA	NONE	.	.	Prints_domain:PR00390,Superfamily_domains:SSF51695,PIRSF_domain:PIRSF000952,SMART_domains:SM00148,Gene3D:3.20.20.190,Pfam_domain:PF00388,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,PROSITE_profiles:PS50007	.	.	ENSP00000352336	.	12/33	.	.	.	.	.	.	.	.	.	12/33	nonpreferredpair	ENST00000359376	Transcript	.	.	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Arg354Leu,ENST00000359376,;PLCG2,missense_variant,p.Arg124Leu,ENST00000563193,;PLCG2,non_coding_transcript_exon_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,intron_variant,,ENST00000563375,;PLCG2,upstream_gene_variant,,ENST00000570198,;	1275	89	61	SUCCESS
PHF12	57649	.	GRCh37	17	27251239	27251239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	40	183	0	ENST00000332830.4:c.403G>T	p.Asp135Tyr	p.D135Y	ENST00000332830	NM_001033561.1	135	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS32598.1	403	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCACTGC	NONE	.	.	hmmpanther:PTHR24102:SF16,hmmpanther:PTHR24102	.	.	ENSP00000329933	.	4/15	.	.	.	.	.	.	.	.	.	4/15	nonpreferredpair	ENST00000332830	Transcript	.	.	ENSG00000109118	20816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.862)	.	deleterious(0.01)	.	PHF12_HUMAN	PHF12	HGNC	K7ERZ4_HUMAN,K7ENU0_HUMAN,K7EMX6_HUMAN	.	UPI0000197E05	SNV	PHF12,missense_variant,p.Asp135Tyr,ENST00000577226,;PHF12,missense_variant,p.Asp159Tyr,ENST00000584685,;PHF12,missense_variant,p.Asp135Tyr,ENST00000268756,;PHF12,missense_variant,p.Asp45Tyr,ENST00000578900,;PHF12,missense_variant,p.Asp135Tyr,ENST00000332830,;PHF12,missense_variant,p.Asp45Tyr,ENST00000582853,;PHF12,downstream_gene_variant,,ENST00000584236,;PHF12,downstream_gene_variant,,ENST00000583747,;RP11-20B24.5,upstream_gene_variant,,ENST00000592890,;RP11-20B24.5,upstream_gene_variant,,ENST00000580782,;RP11-20B24.5,upstream_gene_variant,,ENST00000582631,;PHF12,non_coding_transcript_exon_variant,,ENST00000483934,;PHF12,non_coding_transcript_exon_variant,,ENST00000582655,;PHF12,missense_variant,p.Asp135Tyr,ENST00000378879,;PHF12,non_coding_transcript_exon_variant,,ENST00000582436,;PHF12,intron_variant,,ENST00000583524,;PHF12,upstream_gene_variant,,ENST00000584822,;	1214	183	188	SUCCESS
MSL1	339287	.	GRCh37	17	38289863	38289868	+	inframe_deletion	In_Frame_Del	DEL	CAGGAA	CAGGAA	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	CAGGAA	CAGGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	145	0	ENST00000398532.4:c.1633_1638del	p.Gln545_Glu546del	p.Q545_E546del	ENST00000398532	NM_001012241.1	545	CAGGAA/-	0	.	.	.	.	.	-	QE/-	protein_coding	YES	CCDS45670.1	844-849	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAATTCAGGAATCTGA	NONE	.	.	hmmpanther:PTHR21656,Pfam_domain:PF15275	.	.	ENSP00000462945	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000579565	Transcript	.	.	ENSG00000188895	27905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSL1_HUMAN	MSL1	HGNC	B4DMT3_HUMAN,B3KWR7_HUMAN	.	UPI0000DBE498	deletion	MSL1,inframe_deletion,p.Gln529_Glu530del,ENST00000578648,;MSL1,inframe_deletion,p.Gln282_Glu283del,ENST00000579565,;MSL1,inframe_deletion,p.Gln545_Glu546del,ENST00000398532,;MSL1,downstream_gene_variant,,ENST00000577454,;MSL1,downstream_gene_variant,,ENST00000582920,;MSL1,non_coding_transcript_exon_variant,,ENST00000583127,;MSL1,non_coding_transcript_exon_variant,,ENST00000580086,;MSL1,non_coding_transcript_exon_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000581246,;MSL1,downstream_gene_variant,,ENST00000582884,;	1108-1113	145	94	SUCCESS
KRT33B	3884	.	GRCh37	17	39522752	39522752	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	105	0	ENST00000251646.3:c.558G>T	p.Glu186Asp	p.E186D	ENST00000251646	NM_002279.4	186	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11389.1	558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	.	.	ENSP00000251646	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000251646	Transcript	.	.	ENSG00000131738	6451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.12)	.	KT33B_HUMAN	KRT33B	HGNC	.	.	UPI000012DAFE	SNV	KRT33B,missense_variant,p.Glu186Asp,ENST00000251646,;	608	105	90	SUCCESS
PLCD3	113026	.	GRCh37	17	43195840	43195840	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	59	92	0	ENST00000322765.5:c.933G>T	p.Met311Ile	p.M311I	ENST00000322765	NM_133373.3	311	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCATCAG	NONE	.	.	Superfamily_domains:SSF47473,Pfam_domain:PF09279,Gene3D:1.10.238.10,hmmpanther:PTHR10336:SF33,hmmpanther:PTHR10336	.	.	ENSP00000313731	.	6/16	.	.	.	.	.	.	.	.	.	6/16	nonpreferredpair	ENST00000322765	Transcript	.	.	ENSG00000161714	9061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0.01)	.	PLCD3_HUMAN	PLCD3	HGNC	.	.	UPI00015DFB4E	SNV	PLCD3,missense_variant,p.Met311Ile,ENST00000322765,;PLCD3,intron_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000539433,;PLCD3,downstream_gene_variant,,ENST00000538093,;PLCD3,downstream_gene_variant,,ENST00000590644,;PLCD3,non_coding_transcript_exon_variant,,ENST00000540511,;PLCD3,downstream_gene_variant,,ENST00000544446,;PLCD3,upstream_gene_variant,,ENST00000543623,;PLCD3,upstream_gene_variant,,ENST00000545702,;PLCD3,non_coding_transcript_exon_variant,,ENST00000546350,;PLCD3,non_coding_transcript_exon_variant,,ENST00000542173,;PLCD3,upstream_gene_variant,,ENST00000544333,;PLCD3,upstream_gene_variant,,ENST00000412978,;	1047	92	153	SUCCESS
MTMR4	9110	.	GRCh37	17	56582859	56582859	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	21	80	0	ENST00000323456.5:c.1077G>T	p.Val359=	p.V359=	ENST00000323456	NM_004687.4	359	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11608.1	1077	RADIA|MUTECT|MUSE|VARSCANS	.	CTACACACAGC	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000325285	.	11/19	.	.	.	.	.	.	.	.	.	11/19	nonpreferredpair	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,synonymous_variant,p.%3D,ENST00000323456,;MTMR4,synonymous_variant,p.%3D,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000583966,;MTMR4,downstream_gene_variant,,ENST00000580983,;MTMR4,downstream_gene_variant,,ENST00000582663,;	1202	80	128	SUCCESS
AXIN2	8313	.	GRCh37	17	63532595	63532595	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	85	0	ENST00000307078.5:c.1984C>T	p.Leu662=	p.L662=	ENST00000307078	NM_004655.3	662	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11662.1	1984	RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGATGGT	BUFFER|p.N666fs*41|c.1994_1995insG|4,BUFFER|p.G665fs*24|c.1994delG|3	.	.	.	.	.	ENSP00000302625	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,synonymous_variant,p.%3D,ENST00000375702,;AXIN2,synonymous_variant,p.%3D,ENST00000307078,;AXIN2,non_coding_transcript_exon_variant,,ENST00000578251,;CTD-2535L24.2,downstream_gene_variant,,ENST00000577662,;	2298	86	103	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	129	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	nonpreferredpair	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	129	142	SUCCESS
KIAA1328	57536	.	GRCh37	18	34647292	34647292	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs531868906	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	331	60	368	0	ENST00000280020.5:c.1016G>C	p.Arg339Pro	p.R339P	ENST00000280020	NM_020776.1	339	cGg/cCg	0	.	A:0.0008	.	A:0	.	C	R/P	protein_coding	YES	CCDS45855.1	1016	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCGGCTTT	NONE	by1000G	.	Pfam_domain:PF15369	A:0	.	ENSP00000280020	A:0	7/10	.	.	.	.	.	.	.	.	rs531868906,COSM4072105,COSM359201,COSM4072107,COSM4072106	7/10	nonpreferredpair	ENST00000280020	Transcript	.	A:0.0002	ENSG00000150477	29248	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1,1	.	.	benign(0.239)	A:0	tolerated(0.23)	0,1,1,1,1	K1328_HUMAN	KIAA1328	HGNC	.	.	UPI00001C1FF0	SNV	KIAA1328,missense_variant,p.Arg231Pro,ENST00000543923,;KIAA1328,missense_variant,p.Arg55Pro,ENST00000435985,;KIAA1328,missense_variant,p.Arg327Pro,ENST00000587139,;KIAA1328,missense_variant,p.Arg335Pro,ENST00000591619,;KIAA1328,missense_variant,p.Arg339Pro,ENST00000280020,;KIAA1328,missense_variant,p.Arg55Pro,ENST00000586135,;KIAA1328,missense_variant,p.Arg55Pro,ENST00000586501,;KIAA1328,downstream_gene_variant,,ENST00000591911,;KIAA1328,upstream_gene_variant,,ENST00000599493,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;	1038	368	391	SUCCESS
EPG5	57724	.	GRCh37	18	43460188	43460188	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	73	0	ENST00000282041.5:c.5519G>T	p.Ser1840Ile	p.S1840I	ENST00000282041	NM_020964.2	1840	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS11926.2	5519	MUTECT|MUSE	.	CGGAGCCTGCC	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	32/44	.	.	.	.	.	.	.	.	COSM1611245	32/44	nonpreferredpair	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.975)	.	deleterious(0.01)	1	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,missense_variant,p.Ser1840Ile,ENST00000282041,;EPG5,splice_region_variant,,ENST00000585906,;EPG5,missense_variant,p.Ser715Ile,ENST00000592272,;EPG5,splice_region_variant,,ENST00000587884,;EPG5,splice_region_variant,,ENST00000590884,;	5554	73	52	SUCCESS
MC4R	4160	.	GRCh37	18	58039123	58039123	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	105	0	ENST00000299766.3:c.460G>T	p.Ala154Ser	p.A154S	ENST00000299766	NM_005912.2	154	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11976.1	460	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCATAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00534	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,missense_variant,p.Ala154Ser,ENST00000299766,;	879	105	88	SUCCESS
SERPINB4	6318	.	GRCh37	18	61308143	61308143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	349	65	433	0	ENST00000341074.5:c.434A>G	p.Lys145Arg	p.K145R	ENST00000341074	NM_002974.2	145	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS11986.1	434	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTTCGA	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000343445	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000341074	Transcript	.	.	ENSG00000206073	10570	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	tolerated(0.07)	.	SPB4_HUMAN	SERPINB4	HGNC	.	.	UPI0000038A1A	SNV	SERPINB4,missense_variant,p.Lys145Arg,ENST00000341074,;SERPINB4,missense_variant,p.Lys147Arg,ENST00000413673,;SERPINB4,missense_variant,p.Lys145Arg,ENST00000356424,;SERPINB4,missense_variant,p.Lys102Arg,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;	550	433	414	SUCCESS
L3MBTL4	91133	.	GRCh37	18	6138293	6138293	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	36	0	ENST00000284898.6:c.1099A>G	p.Thr367Ala	p.T367A	ENST00000284898	NM_173464.3	367	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11839.2	1099	RADIA|VARSCANS	.	ATTCGTTCCTT	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF78,Gene3D:2.30.30.160,Pfam_domain:PF02820,Superfamily_domains:SSF63748	.	.	ENSP00000284898	.	14/20	.	.	.	.	.	.	.	.	.	14/20	nonpreferredpair	ENST00000284898	Transcript	.	.	ENSG00000154655	26677	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.59)	.	LMBL4_HUMAN	L3MBTL4	HGNC	J3QLK8_HUMAN,J3KS41_HUMAN,J3KRN7_HUMAN	.	UPI000013DDC0	SNV	L3MBTL4,missense_variant,p.Thr367Ala,ENST00000317931,;L3MBTL4,missense_variant,p.Thr367Ala,ENST00000284898,;L3MBTL4,missense_variant,p.Thr367Ala,ENST00000400105,;L3MBTL4,missense_variant,p.Thr367Ala,ENST00000400104,;L3MBTL4,missense_variant,p.Thr180Ala,ENST00000535782,;	1300	36	39	SUCCESS
ZNF407	55628	.	GRCh37	18	72775861	72775861	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	68	0	ENST00000299687.5:c.6184C>T	p.Pro2062Ser	p.P2062S	ENST00000299687	NM_017757.2	2062	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45885.1	6184	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCCCTCA	NONE	.	.	.	.	.	ENSP00000299687	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	tolerated(0.08)	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,missense_variant,p.Pro2062Ser,ENST00000299687,;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	6184	68	71	SUCCESS
LDLR	3949	.	GRCh37	19	11213382	11213382	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146675823	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	34	146	0	ENST00000558518.1:c.233G>T	p.Arg78Leu	p.R78L	ENST00000558518	NM_001195798.1	78	cGt/cTt	0	A:0.0002	T:0	.	T:0	.	T	R/L	protein_coding	YES	CCDS12254.1	233	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGTGTCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	T:0	A:0	ENSP00000454071	T:0	3/18	.	.	.	.	.	.	.	.	rs146675823	3/18	nonpreferredpair	ENST00000558518	Transcript	1	T:0.0002	ENSG00000130164	6547	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.249)	T:0.001	tolerated(0.12)	.	LDLR_HUMAN	LDLR	HGNC	Q6LCH2_HUMAN,E1B4S5_HUMAN	.	UPI00000015DF	SNV	LDLR,missense_variant,p.Arg78Leu,ENST00000558013,;LDLR,missense_variant,p.Arg78Leu,ENST00000545707,;LDLR,missense_variant,p.Arg78Leu,ENST00000455727,;LDLR,missense_variant,p.Arg163Leu,ENST00000252444,;LDLR,missense_variant,p.Arg78Leu,ENST00000558518,;LDLR,missense_variant,p.Arg78Leu,ENST00000557933,;LDLR,intron_variant,,ENST00000535915,;LDLR,upstream_gene_variant,,ENST00000560467,;LDLR,non_coding_transcript_exon_variant,,ENST00000557958,;LDLR,downstream_gene_variant,,ENST00000560502,;LDLR,upstream_gene_variant,,ENST00000558528,;	420	146	191	SUCCESS
DOT1L	84444	.	GRCh37	19	2213369	2213369	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	14	0	ENST00000398665.3:c.1558-169C>T		p.*520*	ENST00000398665	NM_032482.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42460.1	.	MUTECT|MUSE	.	CCCTCCCGCCG	NONE	.	.	.	.	.	ENSP00000381657	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	MODIFIER	16/27	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,intron_variant,,ENST00000398665,;DOT1L,upstream_gene_variant,,ENST00000586024,;AC004490.1,non_coding_transcript_exon_variant,,ENST00000585593,;DOT1L,intron_variant,,ENST00000591498,;DOT1L,upstream_gene_variant,,ENST00000608122,;DOT1L,upstream_gene_variant,,ENST00000472540,;DOT1L,upstream_gene_variant,,ENST00000482433,;	.	14	9	SUCCESS
ZNF536	9745	.	GRCh37	19	30935048	30935048	+	synonymous_variant	Silent	SNP	C	C	T	rs749435165	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	17	0	ENST00000355537.3:c.579C>T	p.Arg193=	p.R193=	ENST00000355537	NM_014717.1	193	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32984.1	579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGCGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	rs749435165,COSM3970887,COSM1524903	2/5	nonpreferredpair	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000585628,;ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	726	17	35	SUCCESS
DPY19L3	147991	.	GRCh37	19	32902324	32902324	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	30	139	0	ENST00000342179.5:c.237+46C>T		p.*79*	ENST00000342179	NM_207325.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12422.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCCAGTA	NONE	.	.	.	.	.	ENSP00000344937	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000342179	Transcript	.	.	ENSG00000178904	27120	.	.	MODIFIER	3/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	D19L3_HUMAN	DPY19L3	HGNC	K7ELG1_HUMAN	.	UPI00001C10BE	SNV	DPY19L3,missense_variant,p.Pro95Ser,ENST00000587077,;DPY19L3,intron_variant,,ENST00000342179,;DPY19L3,intron_variant,,ENST00000392250,;DPY19L3,intron_variant,,ENST00000586427,;DPY19L3,intron_variant,,ENST00000586987,;DPY19L3,intron_variant,,ENST00000592503,;	.	139	164	SUCCESS
RYR1	6261	.	GRCh37	19	38974064	38974064	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	38	0	ENST00000359596.3:c.4842G>A	p.Val1614=	p.V1614=	ENST00000359596		1614	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33011.1	4842	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGGAGAC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	33/106	.	.	.	.	.	.	.	.	COSM3533412	33/106	nonpreferredpair	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;	4842	38	60	SUCCESS
CEACAM4	1089	.	GRCh37	19	42132051	42132051	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199959927	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	427	94	423	0	ENST00000221954.2:c.348C>A	p.Asp116Glu	p.D116E	ENST00000221954	NM_001817.2	116	gaC/gaA	0	.	A:0.0008	.	A:0	.	T	D/E	protein_coding	YES	CCDS33033.1	348	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCCTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	A:0	.	ENSP00000221954	A:0	2/7	.	.	.	.	.	.	.	.	rs199959927,COSM2150367	2/7	nonpreferredpair	ENST00000221954	Transcript	.	A:0.0002	ENSG00000105352	1816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.994)	A:0	deleterious(0)	0,1	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	SNV	CEACAM4,missense_variant,p.Asp116Glu,ENST00000221954,;CEACAM4,missense_variant,p.Asp116Glu,ENST00000600925,;CEACAM4,non_coding_transcript_exon_variant,,ENST00000472081,;	459	423	521	SUCCESS
PVRL2	0	.	GRCh37	19	45391367	45391367	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	49	162	0	ENST00000252483.5:c.1348G>T	p.Glu450Ter	p.E450*	ENST00000252483	NM_001042724.1	450	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42576.1	1348	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGAAATG	NONE	.	.	hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF63	.	.	ENSP00000252483	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000252483	Transcript	.	.	ENSG00000130202	9707	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PVRL2_HUMAN	PVRL2	HGNC	Q7Z458_HUMAN,Q7Z457_HUMAN,Q7Z456_HUMAN	.	UPI000004A2BF	SNV	PVRL2,stop_gained,p.Glu450Ter,ENST00000252483,;PVRL2,missense_variant,p.Glu10Asp,ENST00000592018,;TOMM40,upstream_gene_variant,,ENST00000252487,;TOMM40,upstream_gene_variant,,ENST00000589649,;TOMM40,upstream_gene_variant,,ENST00000589253,;TOMM40,upstream_gene_variant,,ENST00000426677,;TOMM40,upstream_gene_variant,,ENST00000405636,;TOMM40,upstream_gene_variant,,ENST00000592434,;CTB-129P6.4,intron_variant,,ENST00000585408,;	1348	162	224	SUCCESS
RSPH6A	81492	.	GRCh37	19	46318184	46318184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	7	68	0	ENST00000221538.3:c.251G>T	p.Gly84Val	p.G84V	ENST00000221538	NM_030785.3	84	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12675.1	251	MUTECT|MUSE|VARSCANS	.	CCATGCCACCC	NONE	.	.	.	.	.	ENSP00000221538	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000221538	Transcript	.	.	ENSG00000104941	14241	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.053)	.	deleterious_low_confidence(0.03)	.	RSH6A_HUMAN	RSPH6A	HGNC	M0R103_HUMAN	.	UPI0000037C58	SNV	RSPH6A,missense_variant,p.Gly84Val,ENST00000221538,;RSPH6A,missense_variant,p.Gly84Val,ENST00000597055,;RSPH6A,upstream_gene_variant,,ENST00000600188,;SYMPK,downstream_gene_variant,,ENST00000245934,;SYMPK,downstream_gene_variant,,ENST00000598155,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000600237,;SYMPK,downstream_gene_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000596824,;SYMPK,downstream_gene_variant,,ENST00000598329,;	394	68	86	SUCCESS
CCDC155	0	.	GRCh37	19	49920647	49920647	+	synonymous_variant	Silent	SNP	C	C	A	rs182291239	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	85	0	ENST00000447857.3:c.1569C>A	p.Ile523=	p.I523=	ENST00000447857	NM_144688.4	523	atC/atA	0	.	T:0	.	T:0	.	A	I	protein_coding	YES	CCDS46140.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCCCAGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0.002	.	ENSP00000404220	T:0	20/20	.	.	.	.	.	.	.	.	rs182291239	20/20	nonpreferredpair	ENST00000447857	Transcript	.	T:0.0004	ENSG00000161609	26520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	KASH5_HUMAN	CCDC155	HGNC	M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN	.	UPI000006F690	SNV	CCDC155,synonymous_variant,p.%3D,ENST00000447857,;CCDC155,synonymous_variant,p.%3D,ENST00000600570,;CCDC155,downstream_gene_variant,,ENST00000593362,;	1774	85	112	SUCCESS
VN1R2	317701	.	GRCh37	19	53761860	53761860	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs750842896	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	23	89	0	ENST00000341702.3:c.232T>G	p.Ser78Ala	p.S78A	ENST00000341702	NM_173856.2	78	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS12862.1	232	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTCTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	rs750842896	1/1	nonpreferredpair	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	deleterious_low_confidence(0.01)	.	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,missense_variant,p.Ser78Ala,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	316	89	122	SUCCESS
ZNF154	7710	.	GRCh37	19	58216279	58216279	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	26	229	0	ENST00000451275.1:c.102T>A	p.Ala34=	p.A34=	ENST00000451275		34	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42639.1	102	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGAGCCTC	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,PROSITE_profiles:PS50805	.	.	ENSP00000421258	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000512439	Transcript	.	.	ENSG00000179909	12939	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN154_HUMAN	ZNF154	HGNC	.	.	UPI00001D819A	SNV	ZNF154,synonymous_variant,p.%3D,ENST00000426889,;ZNF154,synonymous_variant,p.%3D,ENST00000512439,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF154,synonymous_variant,p.%3D,ENST00000451275,;	299	229	227	SUCCESS
ZNF324B	388569	.	GRCh37	19	58967236	58967236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	15	129	0	ENST00000336614.4:c.925G>T	p.Gly309Cys	p.G309C	ENST00000336614	NM_207395.2	309	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS33138.1	925	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGCGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000337473	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000336614	Transcript	.	.	ENSG00000249471	33107	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	Z324B_HUMAN	ZNF324B	HGNC	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN	.	UPI000022AA2D	SNV	ZNF324B,missense_variant,p.Gly309Cys,ENST00000336614,;ZNF324B,missense_variant,p.Gly299Cys,ENST00000391696,;ZNF324B,missense_variant,p.Gly309Cys,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000599194,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000598244,;	1032	129	107	SUCCESS
OR2Z1	284383	.	GRCh37	19	8842140	8842140	+	synonymous_variant	Silent	SNP	C	C	A	rs782149328	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	28	166	0	ENST00000324060.2:c.750C>A	p.Leu250=	p.L250=	ENST00000324060	NM_001004699.1	250	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32895.1	750	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCTTTTA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF96,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000316284	.	1/1	.	.	.	.	.	.	.	.	rs782149328	1/1	nonpreferredpair	ENST00000324060	Transcript	.	.	ENSG00000181733	15391	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2Z1_HUMAN	OR2Z1	HGNC	.	.	UPI000003F225	SNV	OR2Z1,synonymous_variant,p.%3D,ENST00000324060,;RPL23AP78,upstream_gene_variant,,ENST00000599928,;	825	166	192	SUCCESS
OR7D4	125958	.	GRCh37	19	9324917	9324917	+	synonymous_variant	Silent	SNP	C	C	T	rs377419980	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	27	158	0	ENST00000308682.2:c.597G>A	p.Leu199=	p.L199=	ENST00000308682	NM_001005191.2	199	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32901.1	597	RADIA|MUTECT|MUSE|VARSCANS	.	ACATACAAGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000310488	.	1/1	.	.	.	.	.	.	.	.	COSM568506	1/1	nonpreferredpair	ENST00000308682	Transcript	.	.	ENSG00000174667	8380	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	OR7D4_HUMAN	OR7D4	HGNC	.	.	UPI00000472B5	SNV	OR7D4,synonymous_variant,p.%3D,ENST00000308682,;	626	158	169	SUCCESS
C1orf167	284498	.	GRCh37	1	11832211	11832211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	30	152	0	ENST00000433342.1:c.1955C>A	p.Ala652Asp	p.A652D	ENST00000433342		652	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	.	1955	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCACAC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000414909	.	8/21	.	.	.	.	.	.	.	.	.	8/21	nonpreferredpair	ENST00000433342	Transcript	.	.	ENSG00000215910	25262	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.02)	.	CA167_HUMAN	C1orf167	HGNC	.	.	UPI00015C73CD	SNV	C1orf167,missense_variant,p.Ala12Asp,ENST00000312793,;C1orf167,missense_variant,p.Ala652Asp,ENST00000433342,;RP11-56N19.5,downstream_gene_variant,,ENST00000376620,;C1orf167,non_coding_transcript_exon_variant,,ENST00000484153,;	1955	152	203	SUCCESS
SEC22B	9554	.	GRCh37	1	145116241	145116241	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	21	0	ENST00000453618.1:n.1327C>G		p.*443*	ENST00000453618				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|VARSCANS	.	TTAGTCAACCT	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000453618	Transcript	.	.	ENSG00000223380	10700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SEC22B	HGNC	.	.	.	SNV	SEC22B,non_coding_transcript_exon_variant,,ENST00000453618,;	1327	21	27	SUCCESS
S100A7A	338324	.	GRCh37	1	153390678	153390678	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	145	274	0	ENST00000329256.2:c.120C>A	p.Phe40Leu	p.F40L	ENST00000329256		40	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS30872.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCCCCAA	BUFFER|p.F43F|c.129C>T|3	.	.	hmmpanther:PTHR11639:SF64,hmmpanther:PTHR11639,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357718	.	2/3	.	.	.	.	.	.	.	.	COSM675241	2/3	nonpreferredpair	ENST00000368729	Transcript	.	.	ENSG00000184330	21657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	S1A7A_HUMAN	S100A7A	HGNC	.	.	UPI000000D89D	SNV	S100A7A,missense_variant,p.Phe40Leu,ENST00000368728,;S100A7A,missense_variant,p.Phe40Leu,ENST00000368729,;S100A7A,missense_variant,p.Phe40Leu,ENST00000329256,;	177	275	403	SUCCESS
CACNA1E	777	.	GRCh37	1	181688911	181688911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	337	37	272	0	ENST00000367573.2:c.1663G>A	p.Val555Met	p.V555M	ENST00000367573	NM_001205293.1	555	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS55664.1	1663	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGTGGTC	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	13/48	.	.	.	.	.	.	.	.	.	13/48	nonpreferredpair	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Val162Met,ENST00000367567,;CACNA1E,missense_variant,p.Val555Met,ENST00000360108,;CACNA1E,missense_variant,p.Val506Met,ENST00000358338,;CACNA1E,missense_variant,p.Val506Met,ENST00000357570,;CACNA1E,missense_variant,p.Val555Met,ENST00000526775,;CACNA1E,missense_variant,p.Val555Met,ENST00000367570,;CACNA1E,missense_variant,p.Val555Met,ENST00000367573,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	1663	272	374	SUCCESS
RGSL1	353299	.	GRCh37	1	182458241	182458241	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	210	33	192	0	ENST00000294854.8:c.1621G>T	p.Glu541Ter	p.E541*	ENST00000294854	NM_001137669.1	541	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS58049.1	1621	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAAATG	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845	.	.	ENSP00000457748	.	8/22	.	.	.	.	.	.	.	.	.	8/22	nonpreferredpair	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,stop_gained,p.Glu541Ter,ENST00000294854,;RGSL1,stop_gained,p.Glu576Ter,ENST00000542961,;RGSL1,stop_gained,p.Glu576Ter,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000416676,;RGSL1,downstream_gene_variant,,ENST00000367561,;RGSL1,upstream_gene_variant,,ENST00000436031,;	1641	192	244	SUCCESS
IVNS1ABP	10625	.	GRCh37	1	185274712	185274712	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	95	212	0	ENST00000367498.3:c.721G>T	p.Ala241Ser	p.A241S	ENST00000367498	NM_006469.4	241	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1368.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCCTGTC	NONE	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF7,PIRSF_domain:PIRSF037037	.	.	ENSP00000356468	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000367498	Transcript	.	.	ENSG00000116679	16951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	NS1BP_HUMAN	IVNS1ABP	HGNC	B3KSM1_HUMAN	.	UPI0000036B84	SNV	IVNS1ABP,missense_variant,p.Ala23Ser,ENST00000392007,;IVNS1ABP,missense_variant,p.Ala241Ser,ENST00000367498,;IVNS1ABP,downstream_gene_variant,,ENST00000367497,;IVNS1ABP,downstream_gene_variant,,ENST00000422754,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000459929,;IVNS1ABP,upstream_gene_variant,,ENST00000494880,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000480769,;IVNS1ABP,upstream_gene_variant,,ENST00000475046,;IVNS1ABP,upstream_gene_variant,,ENST00000491112,;IVNS1ABP,upstream_gene_variant,,ENST00000468217,;	1344	212	267	SUCCESS
OR14K1	343170	.	GRCh37	1	247902194	247902194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	382	62	339	0	ENST00000283225.2:c.278T>A	p.Leu93Gln	p.L93Q	ENST00000283225		93	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	.	278	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGGGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000283225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000283225	Transcript	.	.	ENSG00000153230	15025	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.253)	.	tolerated(0.22)	.	O14K1_HUMAN	OR14K1	HGNC	.	.	UPI0000041CBA	SNV	OR14K1,missense_variant,p.Leu93Gln,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	278	339	444	SUCCESS
OR2T12	127064	.	GRCh37	1	248458244	248458244	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369151985	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1130	216	1103	0	ENST00000317996.1:c.637C>A	p.Leu213Met	p.L213M	ENST00000317996	NM_001004692.1	213	Ctg/Atg	0	A:0.0002	.	.	.	.	T	L/M	protein_coding	YES	CCDS31110.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGGATGA	BUFFER|p.S210F|c.629C>T|3	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	rs369151985,COSM907259	1/1	nonpreferredpair	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	tolerated(0.05)	0,1	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,missense_variant,p.Leu213Met,ENST00000317996,;	637	1103	1346	SUCCESS
TRAPPC3	27095	.	GRCh37	1	36614938	36614938	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	19	88	0	ENST00000373166.3:c.42G>A	p.Met14Ile	p.M14I	ENST00000373166	NM_014408.4	14	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS404.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCATTTT	NONE	.	.	hmmpanther:PTHR13048,hmmpanther:PTHR13048:SF2,Gene3D:3.30.1380.20,PIRSF_domain:PIRSF018293,Superfamily_domains:SSF111126	.	.	ENSP00000362261	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000373166	Transcript	.	.	ENSG00000054116	19942	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.81)	.	TPPC3_HUMAN	TRAPPC3	HGNC	.	.	UPI0000052E1F	SNV	TRAPPC3,missense_variant,p.Met14Ile,ENST00000373166,;TRAPPC3,missense_variant,p.Met14Ile,ENST00000373159,;TRAPPC3,5_prime_UTR_variant,,ENST00000373163,;TRAPPC3,5_prime_UTR_variant,,ENST00000373162,;TRAPPC3,splice_region_variant,,ENST00000469757,;TRAPPC3,upstream_gene_variant,,ENST00000497251,;	133	88	135	SUCCESS
MUTYH	4595	.	GRCh37	1	45795060	45795060	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374655042	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	248	48	190	0	ENST00000372115.3:c.1526G>T	p.Arg509Leu	p.R509L	ENST00000372115	NM_001048171.1	509	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS520.1	1559	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCGGGGC	NONE	byCluster	.	hmmpanther:PTHR10359:SF24,hmmpanther:PTHR10359	.	.	ENSP00000361170	.	16/16	.	.	.	.	.	.	.	.	rs374655042	16/16	nonpreferredpair	ENST00000372098	Transcript	.	.	ENSG00000132781	7527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.03)	.	MUTYH_HUMAN	MUTYH	HGNC	E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN	.	UPI000006EB4F	SNV	MUTYH,missense_variant,p.Arg520Leu,ENST00000372098,;MUTYH,missense_variant,p.Arg510Leu,ENST00000372110,;MUTYH,missense_variant,p.Arg495Leu,ENST00000355498,;MUTYH,missense_variant,p.Arg523Leu,ENST00000450313,;MUTYH,missense_variant,p.Arg495Leu,ENST00000372104,;MUTYH,missense_variant,p.Arg509Leu,ENST00000372115,;MUTYH,missense_variant,p.Arg509Leu,ENST00000528013,;MUTYH,missense_variant,p.Arg506Leu,ENST00000448481,;MUTYH,missense_variant,p.Arg495Leu,ENST00000456914,;MUTYH,missense_variant,p.Arg506Leu,ENST00000372100,;MUTYH,missense_variant,p.Arg190Leu,ENST00000488731,;MUTYH,missense_variant,p.Arg190Leu,ENST00000529984,;MUTYH,missense_variant,p.Arg187Leu,ENST00000529892,;MUTYH,missense_variant,p.Arg496Leu,ENST00000354383,;MUTYH,missense_variant,p.Arg204Leu,ENST00000528332,;MUTYH,synonymous_variant,p.%3D,ENST00000531105,;MUTYH,downstream_gene_variant,,ENST00000412971,;HPDL,downstream_gene_variant,,ENST00000334815,;MUTYH,downstream_gene_variant,,ENST00000483127,;MUTYH,downstream_gene_variant,,ENST00000435155,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000467459,;MUTYH,3_prime_UTR_variant,,ENST00000485271,;MUTYH,3_prime_UTR_variant,,ENST00000533178,;MUTYH,non_coding_transcript_exon_variant,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000534453,;MUTYH,downstream_gene_variant,,ENST00000470256,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,downstream_gene_variant,,ENST00000462388,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000461495,;MUTYH,downstream_gene_variant,,ENST00000478796,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000492494,;MUTYH,downstream_gene_variant,,ENST00000467940,;MUTYH,downstream_gene_variant,,ENST00000479746,;MUTYH,downstream_gene_variant,,ENST00000476789,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000466231,;	1693	190	296	SUCCESS
MAST2	23139	.	GRCh37	1	46485312	46485312	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	22	138	0	ENST00000361297.2:c.1233G>A	p.Gln411=	p.Q411=	ENST00000361297	NM_015112.2	411	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS41326.1	1233	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGCTGGT	NONE	.	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356,Pfam_domain:PF08926,Gene3D:1v9vA01,Superfamily_domains:0050107	.	.	ENSP00000354671	.	11/29	.	.	.	.	.	.	.	.	.	11/29	nonpreferredpair	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,synonymous_variant,p.%3D,ENST00000361297,;MAST2,synonymous_variant,p.%3D,ENST00000372009,;MAST2,synonymous_variant,p.%3D,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000498668,;MAST2,upstream_gene_variant,,ENST00000467367,;	1516	138	143	SUCCESS
EFCAB14	9813	.	GRCh37	1	47150044	47150044	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	55	0	ENST00000371933.3:c.1186+119G>T		p.*396*	ENST00000371933	NM_014774.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30706.1	.	MUTECT|MUSE	.	CGGTGCGTTCA	NONE	.	.	.	.	.	ENSP00000361001	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000371933	Transcript	.	.	ENSG00000159658	29051	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFC14_HUMAN	EFCAB14	HGNC	.	.	UPI000003B443	SNV	EFCAB14,intron_variant,,ENST00000544071,;EFCAB14,intron_variant,,ENST00000371933,;EFCAB14-AS1,intron_variant,,ENST00000442839,;EFCAB14-AS1,intron_variant,,ENST00000418985,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000484461,;EFCAB14,intron_variant,,ENST00000459797,;EFCAB14,intron_variant,,ENST00000479745,;EFCAB14,intron_variant,,ENST00000487741,;EFCAB14,intron_variant,,ENST00000481623,;	.	55	45	SUCCESS
ESPN	83715	.	GRCh37	1	6520166	6520166	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761979450	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	32	104	0	ENST00000377828.1:c.2525G>T	p.Arg842Leu	p.R842L	ENST00000377828	NM_031475.2	842	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS70.1	2525	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGACAGG	NONE	byFrequency	.	hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF14	.	.	ENSP00000367059	.	13/13	.	.	.	.	.	.	.	.	rs761979450,COSM3491750	13/13	nonpreferredpair	ENST00000377828	Transcript	.	.	ENSG00000187017	13281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	ESPN_HUMAN	ESPN	HGNC	.	.	UPI000013D2B6	SNV	ESPN,missense_variant,p.Arg276Leu,ENST00000416731,;ESPN,missense_variant,p.Arg842Leu,ENST00000377828,;ESPN,missense_variant,p.Arg276Leu,ENST00000461727,;ESPN,missense_variant,p.Arg186Leu,ENST00000434576,;TNFRSF25,downstream_gene_variant,,ENST00000356876,;TNFRSF25,downstream_gene_variant,,ENST00000348333,;TNFRSF25,downstream_gene_variant,,ENST00000481401,;TNFRSF25,downstream_gene_variant,,ENST00000351959,;TNFRSF25,downstream_gene_variant,,ENST00000377782,;TNFRSF25,downstream_gene_variant,,ENST00000351748,;ESPN,downstream_gene_variant,,ENST00000475228,;TNFRSF25,downstream_gene_variant,,ENST00000461703,;ESPN,upstream_gene_variant,,ENST00000468561,;TNFRSF25,downstream_gene_variant,,ENST00000475730,;ESPN,non_coding_transcript_exon_variant,,ENST00000477679,;TNFRSF25,downstream_gene_variant,,ENST00000515145,;TNFRSF25,downstream_gene_variant,,ENST00000453260,;TNFRSF25,downstream_gene_variant,,ENST00000414040,;TNFRSF25,downstream_gene_variant,,ENST00000453341,;TNFRSF25,downstream_gene_variant,,ENST00000469691,;TNFRSF25,downstream_gene_variant,,ENST00000510563,;TNFRSF25,downstream_gene_variant,,ENST00000485036,;TNFRSF25,downstream_gene_variant,,ENST00000480393,;TNFRSF25,downstream_gene_variant,,ENST00000513135,;TNFRSF25,downstream_gene_variant,,ENST00000473343,;TNFRSF25,downstream_gene_variant,,ENST00000502588,;TNFRSF25,downstream_gene_variant,,ENST00000502730,;	2693	104	166	SUCCESS
C1orf173	0	.	GRCh37	1	75037157	75037157	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	32	270	0	ENST00000326665.5:c.4237G>T	p.Glu1413Ter	p.E1413*	ENST00000326665	NM_001002912.4	1413	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS30755.1	4237	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCCCAC	NONE	.	.	hmmpanther:PTHR23034	.	.	ENSP00000322609	.	14/15	.	.	.	.	.	.	.	.	.	14/15	nonpreferredpair	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,stop_gained,p.Glu1413Ter,ENST00000326665,;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	4456	270	259	SUCCESS
NEXN	91624	.	GRCh37	1	78407772	78407772	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	39	259	0	ENST00000334785.7:c.1538T>A	p.Met513Lys	p.M513K	ENST00000334785	NM_144573.3	513	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS41351.1	1538	RADIA|MUTECT|MUSE|VARSCANS	.	GAATATGAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22964	.	.	ENSP00000333938	.	12/13	.	.	.	.	.	.	.	.	.	12/13	nonpreferredpair	ENST00000334785	Transcript	.	.	ENSG00000162614	29557	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NEXN_HUMAN	NEXN	HGNC	B4DDI0_HUMAN	.	UPI000022ABDC	SNV	NEXN,missense_variant,p.Met413Lys,ENST00000342754,;NEXN,missense_variant,p.Met513Lys,ENST00000334785,;NEXN,missense_variant,p.Met499Lys,ENST00000457030,;NEXN,missense_variant,p.Met449Lys,ENST00000330010,;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;FUBP1,downstream_gene_variant,,ENST00000483894,;FUBP1,downstream_gene_variant,,ENST00000492724,;FUBP1,downstream_gene_variant,,ENST00000488814,;FUBP1,downstream_gene_variant,,ENST00000474632,;FUBP1,downstream_gene_variant,,ENST00000492405,;FUBP1,downstream_gene_variant,,ENST00000480673,;FUBP1,downstream_gene_variant,,ENST00000489495,;NEXN,non_coding_transcript_exon_variant,,ENST00000470735,;FUBP1,downstream_gene_variant,,ENST00000294623,;	1722	259	269	SUCCESS
GNRH2	2797	.	GRCh37	20	3025397	3025397	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	86	0	ENST00000245983.2:c.227C>T	p.Pro76Leu	p.P76L	ENST00000245983	NM_001501.1	76	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13040.1	227	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCCCTGG	NONE	.	.	hmmpanther:PTHR10522:SF6,hmmpanther:PTHR10522	.	.	ENSP00000245983	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000245983	Transcript	.	.	ENSG00000125787	4420	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.29)	.	GON2_HUMAN	GNRH2	HGNC	.	.	UPI000012B8FB	SNV	GNRH2,missense_variant,p.Pro68Leu,ENST00000380346,;GNRH2,missense_variant,p.Pro69Leu,ENST00000380347,;GNRH2,missense_variant,p.Pro69Leu,ENST00000359100,;GNRH2,missense_variant,p.Pro68Leu,ENST00000359987,;GNRH2,missense_variant,p.Pro76Leu,ENST00000245983,;MRPS26,upstream_gene_variant,,ENST00000380325,;	278	86	96	SUCCESS
CDK5RAP1	51654	.	GRCh37	20	31948050	31948050	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	58	0	ENST00000357886.4:c.1725+107A>T		p.*575*	ENST00000357886				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13219.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGATTTTTA	NONE	.	.	.	.	.	ENSP00000217372	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000346416	Transcript	.	.	ENSG00000101391	15880	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CK5P1_HUMAN	CDK5RAP1	HGNC	Q53H36_HUMAN	.	UPI000004495E	SNV	CDK5RAP1,3_prime_UTR_variant,,ENST00000544843,;CDK5RAP1,intron_variant,,ENST00000357886,;CDK5RAP1,intron_variant,,ENST00000473997,;CDK5RAP1,intron_variant,,ENST00000427097,;CDK5RAP1,intron_variant,,ENST00000339269,;CDK5RAP1,intron_variant,,ENST00000346416,;CDK5RAP1,intron_variant,,ENST00000481964,;CDK5RAP1,intron_variant,,ENST00000498525,;CDK5RAP1,intron_variant,,ENST00000482967,;CDK5RAP1,downstream_gene_variant,,ENST00000496381,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000461710,;	.	58	57	SUCCESS
RALGAPB	57148	.	GRCh37	20	37154091	37154091	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	444	92	558	0	ENST00000262879.6:c.1832G>C	p.Arg611Pro	p.R611P	ENST00000262879		611	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS13305.1	1832	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21344	.	.	ENSP00000262879	.	12/30	.	.	.	.	.	.	.	.	COSM577473	12/30	nonpreferredpair	ENST00000262879	Transcript	.	.	ENSG00000170471	29221	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	RLGPB_HUMAN	RALGAPB	HGNC	Q6MZJ2_HUMAN	.	UPI000000DBFD	SNV	RALGAPB,missense_variant,p.Arg389Pro,ENST00000397038,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000397040,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000397042,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000262879,;RALGAPB,missense_variant,p.Arg439Pro,ENST00000438490,;RALGAPB,downstream_gene_variant,,ENST00000537204,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;	2116	559	536	SUCCESS
NCOA3	8202	.	GRCh37	20	46279951	46279951	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376291640	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	19	109	0	ENST00000371998.3:c.3877G>T	p.Asp1293Tyr	p.D1293Y	ENST00000371998		1293	Gat/Tat	0	A:0.0002	.	.	.	.	T	D/Y	protein_coding	YES	CCDS13407.1	3877	RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGATGGG	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Pfam_domain:PF07469,PIRSF_domain:PIRSF038181	.	A:0	ENSP00000361066	.	20/23	.	.	.	.	.	.	.	.	rs376291640	20/23	nonpreferredpair	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Asp1284Tyr,ENST00000371997,;NCOA3,missense_variant,p.Asp1289Tyr,ENST00000372004,;NCOA3,missense_variant,p.Asp1219Tyr,ENST00000341724,;NCOA3,missense_variant,p.Asp1293Tyr,ENST00000371998,;	4068	109	116	SUCCESS
ZGPAT	84619	.	GRCh37	20	62340061	62340061	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	32	0	ENST00000328969.5:c.129G>T	p.Leu43=	p.L43=	ENST00000328969	NM_032527.4	43	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13534.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGAAGGA	NONE	.	.	hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF8	.	.	ENSP00000332013	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000328969	Transcript	.	.	ENSG00000197114	15948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZGPAT_HUMAN	ZGPAT	HGNC	.	.	UPI000013EEDB	SNV	ZGPAT,synonymous_variant,p.%3D,ENST00000448100,;ZGPAT,synonymous_variant,p.%3D,ENST00000328969,;ZGPAT,synonymous_variant,p.%3D,ENST00000357119,;ZGPAT,synonymous_variant,p.%3D,ENST00000355969,;ZGPAT,synonymous_variant,p.%3D,ENST00000431125,;ZGPAT,synonymous_variant,p.%3D,ENST00000369967,;ARFRP1,upstream_gene_variant,,ENST00000609142,;ARFRP1,upstream_gene_variant,,ENST00000324228,;ARFRP1,upstream_gene_variant,,ENST00000440854,;ARFRP1,upstream_gene_variant,,ENST00000359715,;ARFRP1,upstream_gene_variant,,ENST00000607873,;ARFRP1,upstream_gene_variant,,ENST00000424545,;ZGPAT,upstream_gene_variant,,ENST00000478385,;ZGPAT,upstream_gene_variant,,ENST00000472711,;ZGPAT,upstream_gene_variant,,ENST00000468235,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000477340,;ARFRP1,upstream_gene_variant,,ENST00000609243,;RP4-583P15.15,upstream_gene_variant,,ENST00000490623,;ARFRP1,upstream_gene_variant,,ENST00000610136,;ARFRP1,upstream_gene_variant,,ENST00000609537,;	256	32	55	SUCCESS
BAGE2	85319	.	GRCh37	21	11020854	11020854	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	789	54	917	0	ENST00000470054.1:n.1879C>A		p.*627*	ENST00000470054				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	ACACTGAGAAC	NONE	.	.	.	.	.	.	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1879	917	843	SUCCESS
KRTAP19-4	337971	.	GRCh37	21	31869199	31869199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	29	254	0	ENST00000334058.2:c.230G>T	p.Arg77Ile	p.R77I	ENST00000334058	NM_181610.1	77	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS33534.1	230	RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTTCTT	NONE	.	.	.	.	.	ENSP00000335567	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000334058	Transcript	.	.	ENSG00000186967	18939	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.14)	.	KR194_HUMAN	KRTAP19-4	HGNC	.	.	UPI00001A9E53	SNV	KRTAP19-4,missense_variant,p.Arg77Ile,ENST00000334058,;KRTAP19-3,upstream_gene_variant,,ENST00000334063,;KRTAP19-5,downstream_gene_variant,,ENST00000334151,;	253	254	217	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43802158	43802158	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	13	114	0	ENST00000291532.3:c.952+16T>C		p.*318*	ENST00000291532	NM_032404.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13686.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACATAGAGAC	NONE	.	.	.	.	.	ENSP00000291532	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,missense_variant,p.Leu323Pro,ENST00000398397,;TMPRSS3,intron_variant,,ENST00000433957,;TMPRSS3,intron_variant,,ENST00000398405,;TMPRSS3,intron_variant,,ENST00000380399,;TMPRSS3,intron_variant,,ENST00000291532,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000478680,;TMPRSS3,intron_variant,,ENST00000474596,;TMPRSS3,intron_variant,,ENST00000476848,;TMPRSS3,intron_variant,,ENST00000482761,;	.	114	134	SUCCESS
PLA2G3	50487	.	GRCh37	22	31534717	31534717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	380	81	413	0	ENST00000215885.3:c.583C>A	p.Gln195Lys	p.Q195K	ENST00000215885	NM_015715.3	195	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS13889.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	GTACTGCAAGG	NONE	.	.	hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253,Pfam_domain:PF05826,Gene3D:1.20.90.10,Superfamily_domains:SSF48619	.	.	ENSP00000215885	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.74)	.	deleterious(0)	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,missense_variant,p.Gln195Lys,ENST00000215885,;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000412277,;INPP5J,downstream_gene_variant,,ENST00000405300,;INPP5J,downstream_gene_variant,,ENST00000404390,;INPP5J,downstream_gene_variant,,ENST00000331075,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000461241,;	836	413	461	SUCCESS
GRAP2	9402	.	GRCh37	22	40343142	40343142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	62	258	0	ENST00000344138.4:c.32C>A	p.Ala11Asp	p.A11D	ENST00000344138	NM_004810.2	11	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13999.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCTTCAG	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF00018,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF28,PROSITE_profiles:PS50002	.	.	ENSP00000339186	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000344138	Transcript	.	.	ENSG00000100351	4563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRAP2_HUMAN	GRAP2	HGNC	Q6FI14_HUMAN,B7Z8E3_HUMAN,B1AH86_HUMAN	.	UPI000012BB02	SNV	GRAP2,missense_variant,p.Ala11Asp,ENST00000543252,;GRAP2,missense_variant,p.Ala11Asp,ENST00000420971,;GRAP2,missense_variant,p.Ala11Asp,ENST00000407075,;GRAP2,missense_variant,p.Ala11Asp,ENST00000344138,;GRAP2,5_prime_UTR_variant,,ENST00000544756,;GRAP2,intron_variant,,ENST00000399090,;GRAP2,intron_variant,,ENST00000540310,;GRAP2,intron_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000461082,;	295	258	239	SUCCESS
PDIA6	10130	.	GRCh37	2	10925030	10925030	+	intron_variant	Intron	SNP	G	G	A	rs1405650606	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	50	0	ENST00000272227.3:c.1254+30C>T		p.*418*	ENST00000272227	NM_005742.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42653.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCCCGC	NONE	.	1469	.	.	.	ENSP00000272238	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000272238	Transcript	.	.	ENSG00000143882	18264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VATC2_HUMAN	ATP6V1C2	HGNC	.	.	UPI0000208E71	SNV	ATP6V1C2,3_prime_UTR_variant,,ENST00000381661,;PDIA6,intron_variant,,ENST00000404371,;PDIA6,intron_variant,,ENST00000272227,;PDIA6,intron_variant,,ENST00000540494,;PDIA6,intron_variant,,ENST00000404824,;PDIA6,intron_variant,,ENST00000381611,;ATP6V1C2,downstream_gene_variant,,ENST00000272238,;ATP6V1C2,downstream_gene_variant,,ENST00000480289,;	.	50	64	SUCCESS
MYO7B	4648	.	GRCh37	2	128335798	128335798	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs549327895	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	19	103	0	ENST00000409816.2:c.940G>T	p.Glu314Ter	p.E314*	ENST00000409816		314	Gag/Tag	0	.	A:0	.	A:0.0014	.	T	E/*	protein_coding	YES	CCDS46405.1	940	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGAGAGC	NONE	by1000G	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF352,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	A:0	.	ENSP00000415090	A:0	9/47	.	.	.	.	.	.	.	.	rs549327895,COSM3042436,COSM3042435	9/47	nonpreferredpair	ENST00000428314	Transcript	.	A:0.0002	ENSG00000169994	7607	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	A:0	.	0,1,1	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,stop_gained,p.Glu314Ter,ENST00000389524,;MYO7B,stop_gained,p.Glu314Ter,ENST00000409816,;MYO7B,stop_gained,p.Glu314Ter,ENST00000428314,;	993	103	138	SUCCESS
MYO3B	140469	.	GRCh37	2	171260816	171260816	+	synonymous_variant	Silent	SNP	G	G	T	rs201316029	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	37	221	0	ENST00000408978.4:c.2337G>T	p.Pro779=	p.P779=	ENST00000408978	NM_138995.4	779	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42773.1	2337	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGCTCTT	NONE	byCluster	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	20/35	.	.	.	.	.	.	.	.	rs201316029	20/35	nonpreferredpair	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,synonymous_variant,p.%3D,ENST00000484338,;MYO3B,synonymous_variant,p.%3D,ENST00000408978,;MYO3B,synonymous_variant,p.%3D,ENST00000334231,;MYO3B,synonymous_variant,p.%3D,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,synonymous_variant,p.%3D,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	2480	221	186	SUCCESS
TTN	7273	.	GRCh37	2	179484372	179484372	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	41	248	0	ENST00000591111.1:c.41749G>T	p.Ala13917Ser	p.A13917S	ENST00000591111		13917	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS59435.1	46672	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408	.	.	ENSP00000467141	.	250/363	.	.	.	.	.	.	.	.	.	250/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala6618Ser,ENST00000359218,;TTN,missense_variant,p.Ala13917Ser,ENST00000591111,;TTN,missense_variant,p.Ala15558Ser,ENST00000589042,;TTN,missense_variant,p.Ala12990Ser,ENST00000342992,;TTN,missense_variant,p.Ala6685Ser,ENST00000342175,;TTN,missense_variant,p.Ala6493Ser,ENST00000460472,;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000604956,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;	46897	248	281	SUCCESS
CGREF1	10669	.	GRCh37	2	27327386	27327386	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	13	142	0	ENST00000260595.5:c.-11-141A>T		p.*4*	ENST00000260595				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33162.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTCACAG	NONE	.	.	.	.	.	ENSP00000385452	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000402394	Transcript	.	.	ENSG00000138028	16962	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CGRE1_HUMAN	CGREF1	HGNC	.	.	UPI000013D0EB	SNV	CGREF1,missense_variant,p.Glu72Val,ENST00000404694,;CGREF1,intron_variant,,ENST00000452318,;CGREF1,intron_variant,,ENST00000405600,;CGREF1,intron_variant,,ENST00000402550,;CGREF1,intron_variant,,ENST00000260595,;CGREF1,intron_variant,,ENST00000312734,;CGREF1,intron_variant,,ENST00000402394,;KHK,downstream_gene_variant,,ENST00000260599,;KHK,downstream_gene_variant,,ENST00000260598,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,;CGREF1,upstream_gene_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000464371,;	.	142	135	SUCCESS
ALMS1	7840	.	GRCh37	2	73677972	73677972	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	22	224	0	ENST00000264448.6:c.4315C>T	p.Gln1439Ter	p.Q1439*	ENST00000264448	NM_015120.4	1439	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS42697.1	4315	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCAACAG	NONE	.	.	.	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	nonpreferredpair	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,stop_gained,p.Gln1439Ter,ENST00000377715,;ALMS1,stop_gained,p.Gln1397Ter,ENST00000409009,;ALMS1,stop_gained,p.Gln1439Ter,ENST00000264448,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;	4426	224	226	SUCCESS
ALMS1	7840	.	GRCh37	2	73800105	73800105	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778698425	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	17	145	0	ENST00000264448.6:c.11098C>T	p.His3700Tyr	p.H3700Y	ENST00000264448	NM_015120.4	3700	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS42697.1	11098	RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCATCGA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	16/23	.	.	.	.	.	.	.	.	rs778698425	16/23	nonpreferredpair	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.425)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.His3658Tyr,ENST00000409009,;ALMS1,missense_variant,p.His3700Tyr,ENST00000264448,;ALMS1,3_prime_UTR_variant,,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	11209	145	138	SUCCESS
SLC6A11	6538	.	GRCh37	3	10967702	10967702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	43	171	0	ENST00000254488.2:c.1133C>A	p.Ala378Asp	p.A378D	ENST00000254488	NM_014229.1	378	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS2602.1	1133	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCTTTA	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000254488	.	9/14	.	.	.	.	.	.	.	.	.	9/14	nonpreferredpair	ENST00000254488	Transcript	.	.	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Ala378Asp,ENST00000254488,;	1199	171	212	SUCCESS
MECOM	2122	.	GRCh37	3	168819859	168819859	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	22	138	0	ENST00000468789.1:c.2196C>T	p.Arg732=	p.R732=	ENST00000468789	NM_001105078.3	732	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54670.1	2391	RADIA|MUTECT|MUSE|VARSCANS	.	GTATAGCGCTC	NONE	.	.	hmmpanther:PTHR24393,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000264674	.	11/17	.	.	.	.	.	.	.	.	.	11/17	nonpreferredpair	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,synonymous_variant,p.%3D,ENST00000472280,;MECOM,synonymous_variant,p.%3D,ENST00000460814,;MECOM,synonymous_variant,p.%3D,ENST00000464456,;MECOM,synonymous_variant,p.%3D,ENST00000494292,;MECOM,synonymous_variant,p.%3D,ENST00000468789,;MECOM,synonymous_variant,p.%3D,ENST00000433243,;MECOM,synonymous_variant,p.%3D,ENST00000392736,;MECOM,synonymous_variant,p.%3D,ENST00000264674,;	2530	138	141	SUCCESS
DGKG	1608	.	GRCh37	3	185986694	185986694	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs199552752	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	40	0	ENST00000265022.3:c.1012G>C	p.Ala338Pro	p.A338P	ENST00000265022	NM_001080744.1	338	Gca/Cca	0	T:0	T:0	.	T:0	.	G	A/P	protein_coding	YES	CCDS3274.1	1012	RADIA|MUTECT|VARSCANS	.	CCATGCGTGCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889	T:0	T:0.0001	ENSP00000265022	T:0	12/25	.	.	.	.	.	.	.	.	rs199552752	12/25	nonpreferredpair	ENST00000265022	Transcript	.	T:0.0004	ENSG00000058866	2853	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.346)	T:0.002	tolerated(0.21)	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,missense_variant,p.Ala89Pro,ENST00000437018,;DGKG,missense_variant,p.Ala338Pro,ENST00000265022,;DGKG,missense_variant,p.Ala338Pro,ENST00000344484,;DGKG,intron_variant,,ENST00000544847,;DGKG,intron_variant,,ENST00000382164,;DGKG,intron_variant,,ENST00000480809,;DGKG,intron_variant,,ENST00000472506,;	1552	40	49	SUCCESS
USP19	10869	.	GRCh37	3	49151699	49151699	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	33	122	0	ENST00000398888.2:c.2002C>G	p.Pro668Ala	p.P668A	ENST00000398888	NM_006677.2	668	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS56254.1	2305	RADIA|MUTECT|MUSE|VARSCANS	.	AAACGGGTCAA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000401197	.	16/27	.	.	.	.	.	.	.	.	.	16/27	nonpreferredpair	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Pro771Ala,ENST00000417901,;USP19,missense_variant,p.Pro708Ala,ENST00000398892,;USP19,missense_variant,p.Pro708Ala,ENST00000398898,;USP19,missense_variant,p.Pro759Ala,ENST00000453664,;USP19,missense_variant,p.Pro769Ala,ENST00000434032,;USP19,missense_variant,p.Pro476Ala,ENST00000398896,;USP19,missense_variant,p.Pro668Ala,ENST00000398888,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000491859,;	2517	122	173	SUCCESS
GPX1	2876	.	GRCh37	3	49394940	49394940	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	278	58	283	1	ENST00000419783.1:c.493G>A	p.Glu165Lys	p.E165K	ENST00000419783	NM_000581.2	165	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43091.1	493	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCAAAGT	NONE	.	.	Prints_domain:PR01011,Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000303,Gene3D:3.40.30.10,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF24,PROSITE_profiles:PS51355	.	.	ENSP00000407375	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000419783	Transcript	.	.	ENSG00000233276	4553	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	GPX1_HUMAN	GPX1	HGNC	Q7L4Q3_HUMAN	.	UPI00001B07C3	SNV	GPX1,missense_variant,p.Glu165Lys,ENST00000419783,;GPX1,3_prime_UTR_variant,,ENST00000419349,;RHOA,downstream_gene_variant,,ENST00000422781,;RHOA,downstream_gene_variant,,ENST00000454011,;RHOA,downstream_gene_variant,,ENST00000418115,;GPX1,downstream_gene_variant,,ENST00000496791,;	815	284	337	SUCCESS
STAB1	23166	.	GRCh37	3	52546358	52546358	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	32	0	ENST00000321725.6:c.2885C>T	p.Ala962Val	p.A962V	ENST00000321725	NM_015136.2	962	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33768.1	2885	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCACCT	NONE	.	.	SMART_domains:SM00181,Pfam_domain:PF12947,Gene3D:2.10.25.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	.	.	ENSP00000312946	.	27/69	.	.	.	.	.	.	.	.	.	27/69	nonpreferredpair	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ala962Val,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	2961	32	61	SUCCESS
OTOP1	133060	.	GRCh37	4	4199717	4199717	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	43	270	0	ENST00000296358.4:c.844T>C	p.Ser282Pro	p.S282P	ENST00000296358	NM_177998.1	282	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS3372.1	844	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGAGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000296358	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,missense_variant,p.Ser282Pro,ENST00000296358,;	869	270	246	SUCCESS
PPBP	5473	.	GRCh37	4	74853684	74853684	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201755460	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	47	265	0	ENST00000296028.3:c.137C>A	p.Ala46Glu	p.A46E	ENST00000296028	NM_002704.3	46	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS3563.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGCCAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10179	.	.	ENSP00000296028	.	1/3	.	.	.	.	.	.	.	.	rs201755460	1/3	nonpreferredpair	ENST00000296028	Transcript	.	.	ENSG00000163736	9240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CXCL7_HUMAN	PPBP	HGNC	D3JV43_HUMAN,D3JV42_HUMAN,D3JV41_HUMAN	.	UPI00000012C5	SNV	PPBP,missense_variant,p.Ala46Glu,ENST00000296028,;	231	265	210	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250371	140250371	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	14	130	0	ENST00000398640.2:c.1683G>A	p.Ala561=	p.A561=	ENST00000398640	NM_018902.3	561	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47284.1	1683	RADIA|MUTECT|MUSE|VARSCANS	.	AACGCGCCGGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,synonymous_variant,p.%3D,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA12,upstream_gene_variant,,ENST00000398631,;	1683	130	95	SUCCESS
PPP2R2B	5521	.	GRCh37	5	146435232	146435232	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	14	120	0	ENST00000394409.3:c.50+25390A>G		p.*17*	ENST00000394409		25		0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4283.1	75	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTGTGTG	NONE	.	.	hmmpanther:PTHR11871:SF1,hmmpanther:PTHR11871,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF037309,Superfamily_domains:SSF50978	.	.	ENSP00000336591	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000336640	Transcript	1	.	ENSG00000156475	9305	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	2ABB_HUMAN	PPP2R2B	HGNC	.	.	UPI0000026156	SNV	PPP2R2B,missense_variant,p.Arg24Gly,ENST00000394414,;PPP2R2B,synonymous_variant,p.%3D,ENST00000336640,;PPP2R2B,5_prime_UTR_variant,,ENST00000356826,;PPP2R2B,intron_variant,,ENST00000504198,;PPP2R2B,intron_variant,,ENST00000394409,;PPP2R2B,intron_variant,,ENST00000508267,;PPP2R2B,intron_variant,,ENST00000394410,;PPP2R2B,intron_variant,,ENST00000509721,;PPP2R2B,missense_variant,p.Arg24Gly,ENST00000522831,;PPP2R2B,synonymous_variant,p.%3D,ENST00000515880,;PPP2R2B,synonymous_variant,p.%3D,ENST00000512011,;PPP2R2B,intron_variant,,ENST00000504565,;	306	120	136	SUCCESS
PPARGC1B	133522	.	GRCh37	5	149213132	149213132	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1312247542	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	65	0	ENST00000309241.5:c.1496C>T	p.Pro499Leu	p.P499L	ENST00000309241	NM_133263.3	499	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4298.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCCTCGG	NONE	.	.	hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528	.	.	ENSP00000312649	.	5/12	.	.	.	.	.	.	.	.	.	5/12	nonpreferredpair	ENST00000309241	Transcript	.	.	ENSG00000155846	30022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.06)	.	PRGC2_HUMAN	PPARGC1B	HGNC	.	.	UPI000006F49D	SNV	PPARGC1B,missense_variant,p.Pro460Leu,ENST00000360453,;PPARGC1B,missense_variant,p.Pro435Leu,ENST00000403750,;PPARGC1B,missense_variant,p.Pro499Leu,ENST00000309241,;PPARGC1B,missense_variant,p.Pro499Leu,ENST00000394320,;PPARGC1B,missense_variant,p.Pro186Leu,ENST00000434684,;	1528	65	80	SUCCESS
CYFIP2	26999	.	GRCh37	5	156768087	156768087	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	37	202	0	ENST00000521420.1:c.2517G>T	p.Arg839=	p.R839=	ENST00000521420		839	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	.	2517	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGGACTGC	NONE	.	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994	.	.	ENSP00000430904	.	22/30	.	.	.	.	.	.	.	.	.	22/30	nonpreferredpair	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,synonymous_variant,p.%3D,ENST00000377576,;CYFIP2,synonymous_variant,p.%3D,ENST00000541131,;CYFIP2,synonymous_variant,p.%3D,ENST00000318218,;CYFIP2,synonymous_variant,p.%3D,ENST00000435847,;CYFIP2,synonymous_variant,p.%3D,ENST00000442283,;CYFIP2,synonymous_variant,p.%3D,ENST00000347377,;CYFIP2,synonymous_variant,p.%3D,ENST00000522463,;CYFIP2,synonymous_variant,p.%3D,ENST00000521420,;FNDC9,downstream_gene_variant,,ENST00000520782,;FNDC9,downstream_gene_variant,,ENST00000312349,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000520424,;	2608	202	223	SUCCESS
SIMC1	375484	.	GRCh37	5	175717117	175717117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	30	210	0	ENST00000443967.1:c.533G>T	p.Ser178Ile	p.S178I	ENST00000443967		178	aGc/aTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4398.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCAGCA	NONE	.	.	.	.	.	ENSP00000342075	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,missense_variant,p.Ser178Ile,ENST00000443967,;SIMC1,missense_variant,p.Ser197Ile,ENST00000429602,;SIMC1,intron_variant,,ENST00000430704,;SIMC1,intron_variant,,ENST00000341199,;SIMC1,non_coding_transcript_exon_variant,,ENST00000503595,;SIMC1,intron_variant,,ENST00000467472,;SIMC1,downstream_gene_variant,,ENST00000508769,;SIMC1,downstream_gene_variant,,ENST00000514128,;SIMC1,intron_variant,,ENST00000495423,;	.	210	234	SUCCESS
GFM2	84340	.	GRCh37	5	74047313	74047313	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	22	140	0	ENST00000296805.3:c.310G>A	p.Asp104Asn	p.D104N	ENST00000296805	NM_032380.4	104	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4023.1	310	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCAACAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296805	.	6/21	.	.	.	.	.	.	.	.	.	6/21	nonpreferredpair	ENST00000296805	Transcript	.	.	ENSG00000164347	29682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.11)	.	RRF2M_HUMAN	GFM2	HGNC	D6RF75_HUMAN	.	UPI0000129CA7	SNV	GFM2,missense_variant,p.Asp29Asn,ENST00000506778,;GFM2,missense_variant,p.Asp104Asn,ENST00000345239,;GFM2,missense_variant,p.Asp104Asn,ENST00000427854,;GFM2,missense_variant,p.Asp104Asn,ENST00000509430,;GFM2,missense_variant,p.Asp104Asn,ENST00000296805,;GFM2,intron_variant,,ENST00000509097,;	768	140	171	SUCCESS
AIM1	0	.	GRCh37	6	106978191	106978191	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs750465483	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	127	0	ENST00000369066.3:c.3494+1G>T		p.X1165_splice	ENST00000369066	NM_001624.2	1165		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACGTAAGT	NONE	.	.	.	.	.	ENSP00000358062	.	.	.	.	.	.	.	.	.	.	rs750465483	.	nonpreferredpair	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	HIGH	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,splice_donor_variant,,ENST00000369066,;	.	127	108	SUCCESS
TTBK1	84630	.	GRCh37	6	43230655	43230655	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	78	0	ENST00000259750.4:c.1553T>A	p.Val518Glu	p.V518E	ENST00000259750	NM_032538.1	518	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS34455.1	1553	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTGGAGC	NONE	.	.	hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909	.	.	ENSP00000259750	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.461)	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,missense_variant,p.Val467Glu,ENST00000304139,;TTBK1,missense_variant,p.Val518Glu,ENST00000259750,;	1636	78	115	SUCCESS
MUC17	140453	.	GRCh37	7	100677499	100677499	+	synonymous_variant	Silent	SNP	G	G	T	rs563806733	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	390	17	463	0	ENST00000306151.4:c.2802G>T	p.Thr934=	p.T934=	ENST00000306151	NM_001040105.1	934	acG/acT	0	.	A:0	.	A:0	.	T	T	protein_coding	YES	CCDS34711.1	2802	MUTECT|MUSE	.	ACCACGCCGGT	NONE	by1000G	.	.	A:0.001	.	ENSP00000302716	A:0	3/13	.	.	.	.	.	.	.	.	rs563806733,COSM3411396	3/13	nonpreferredpair	ENST00000306151	Transcript	.	A:0.0002	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;	2866	463	407	SUCCESS
ATXN7L1	222255	.	GRCh37	7	105254791	105254791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	349	77	471	1	ENST00000419735.3:c.1990A>G	p.Thr664Ala	p.T664A	ENST00000419735	NM_020725.1	664	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47682.1	1990	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTCTGCA	NONE	.	.	hmmpanther:PTHR15117:SF1,hmmpanther:PTHR15117,Low_complexity_(Seg):seg	.	.	ENSP00000410759	.	10/12	.	.	.	.	.	.	.	.	.	10/12	nonpreferredpair	ENST00000419735	Transcript	.	.	ENSG00000146776	22210	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.34)	.	AT7L1_HUMAN	ATXN7L1	HGNC	F8WDE7_HUMAN	.	UPI000162C85E	SNV	ATXN7L1,missense_variant,p.Thr540Ala,ENST00000477775,;ATXN7L1,missense_variant,p.Thr324Ala,ENST00000388807,;ATXN7L1,missense_variant,p.Thr540Ala,ENST00000472195,;ATXN7L1,missense_variant,p.Thr365Ala,ENST00000484475,;ATXN7L1,missense_variant,p.Thr664Ala,ENST00000419735,;ATXN7L1,3_prime_UTR_variant,,ENST00000474433,;	2036	472	426	SUCCESS
EXOC4	60412	.	GRCh37	7	133314872	133314872	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759701016	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	19	114	0	ENST00000253861.4:c.1492G>T	p.Val498Phe	p.V498F	ENST00000253861	NM_021807.3	498	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS5829.1	1492	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGTCATA	NONE	byFrequency	.	hmmpanther:PTHR14146	.	.	ENSP00000253861	.	10/18	.	.	.	.	.	.	.	.	rs759701016,COSM3878227,COSM3878228	10/18	nonpreferredpair	ENST00000253861	Transcript	.	.	ENSG00000131558	30389	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.257)	.	tolerated(0.36)	0,1,1	EXOC4_HUMAN	EXOC4	HGNC	B7Z4J9_HUMAN,B7Z321_HUMAN	.	UPI0000135758	SNV	EXOC4,missense_variant,p.Val397Phe,ENST00000539845,;EXOC4,missense_variant,p.Val498Phe,ENST00000253861,;EXOC4,missense_variant,p.Val108Phe,ENST00000545148,;EXOC4,non_coding_transcript_exon_variant,,ENST00000469115,;EXOC4,non_coding_transcript_exon_variant,,ENST00000486409,;EXOC4,non_coding_transcript_exon_variant,,ENST00000483800,;EXOC4,non_coding_transcript_exon_variant,,ENST00000479839,;EXOC4,non_coding_transcript_exon_variant,,ENST00000460346,;EXOC4,non_coding_transcript_exon_variant,,ENST00000482089,;EXOC4,non_coding_transcript_exon_variant,,ENST00000489931,;EXOC4,non_coding_transcript_exon_variant,,ENST00000486013,;	1521	114	126	SUCCESS
HDAC9	9734	.	GRCh37	7	18633535	18633535	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	21	162	0	ENST00000432645.2:c.538G>A	p.Ala180Thr	p.A180T	ENST00000432645	NM_058176.2	180	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47553.1	547	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCCCAC	NONE	.	.	PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	5/25	.	.	.	.	.	.	.	.	.	5/25	nonpreferredpair	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.857)	.	tolerated(0.79)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Ala183Thr,ENST00000401921,;HDAC9,missense_variant,p.Ala180Thr,ENST00000405010,;HDAC9,missense_variant,p.Ala183Thr,ENST00000441542,;HDAC9,missense_variant,p.Ala180Thr,ENST00000406451,;HDAC9,missense_variant,p.Ala152Thr,ENST00000456174,;HDAC9,missense_variant,p.Ala180Thr,ENST00000432645,;HDAC9,missense_variant,p.Ala180Thr,ENST00000428307,;HDAC9,missense_variant,p.Ala222Thr,ENST00000417496,;HDAC9,missense_variant,p.Ala211Thr,ENST00000406072,;HDAC9,missense_variant,p.Ala147Thr,ENST00000524023,;HDAC9,downstream_gene_variant,,ENST00000413509,;HDAC9,downstream_gene_variant,,ENST00000413380,;HDAC9,downstream_gene_variant,,ENST00000441986,;HDAC9,downstream_gene_variant,,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000476135,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,downstream_gene_variant,,ENST00000446646,;	547	162	131	SUCCESS
ZP3	7784	.	GRCh37	7	76062261	76062261	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763664408	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	74	0	ENST00000394857.3:c.449G>T	p.Ser150Ile	p.S150I	ENST00000394857	NM_001110354.1	150	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47618.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGCCAGG	NONE	byFrequency	.	PROSITE_profiles:PS51034,hmmpanther:PTHR11576:SF2,hmmpanther:PTHR11576,Pfam_domain:PF00100,SMART_domains:SM00241	.	.	ENSP00000378326	.	3/8	.	.	.	.	.	.	.	.	rs763664408	3/8	nonpreferredpair	ENST00000394857	Transcript	.	.	ENSG00000188372	13189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ZP3_HUMAN	ZP3	HGNC	Q2XN66_HUMAN,E9PFI9_HUMAN	.	UPI000013CF77	SNV	ZP3,missense_variant,p.Ser150Ile,ENST00000394857,;ZP3,missense_variant,p.Ser99Ile,ENST00000336517,;ZP3,5_prime_UTR_variant,,ENST00000416245,;ZP3,upstream_gene_variant,,ENST00000394860,;ZP3,upstream_gene_variant,,ENST00000479793,;ZP3,upstream_gene_variant,,ENST00000466960,;	507	74	89	SUCCESS
PCLO	27445	.	GRCh37	7	82435139	82435139	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	14	164	0	ENST00000333891.9:c.14798C>T	p.Pro4933Leu	p.P4933L	ENST00000333891	NM_033026.5	4933	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47630.1	14798	MUTECT|MUSE|VARSCANS	.	TGGGAGGCTTT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	21/25	.	.	.	.	.	.	.	.	.	21/25	nonpreferredpair	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro4933Leu,ENST00000333891,;PCLO,non_coding_transcript_exon_variant,,ENST00000432078,;	15136	164	160	SUCCESS
GRHL2	79977	.	GRCh37	8	102611376	102611376	+	synonymous_variant	Silent	SNP	G	G	A	rs267601683	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	56	248	0	ENST00000251808.3:c.1095G>A	p.Ala365=	p.A365=	ENST00000251808	NM_024915.3	365	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34931.1	1095	RADIA|MUTECT|MUSE|VARSCANS	not_provided	GAGGCGAAGGT	NONE	byFrequency|byCluster	.	Pfam_domain:PF04516,hmmpanther:PTHR11037:SF17,hmmpanther:PTHR11037	.	.	ENSP00000251808	.	8/16	.	.	.	.	.	.	.	.	rs267601683,COSM1453668	8/16	nonpreferredpair	ENST00000251808	Transcript	1	.	ENSG00000083307	2799	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	0,1	GRHL2_HUMAN	GRHL2	HGNC	.	.	UPI000013CD16	SNV	GRHL2,synonymous_variant,p.%3D,ENST00000251808,;GRHL2,synonymous_variant,p.%3D,ENST00000395927,;	1433	248	270	SUCCESS
COL22A1	169044	.	GRCh37	8	139838990	139838990	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372910376	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	107	0	ENST00000303045.6:c.880G>T	p.Ala294Ser	p.A294S	ENST00000303045	NM_152888.1	294	Gcc/Tcc	0	T:0.0002	.	.	.	.	A	A/S	protein_coding	YES	CCDS6376.1	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGCGTACT	NONE	byCluster	.	SMART_domains:SM00210,Superfamily_domains:SSF49899	.	T:0	ENSP00000303153	.	6/65	.	.	.	.	.	.	.	.	rs372910376	6/65	nonpreferredpair	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Ala294Ser,ENST00000303045,;COL22A1,missense_variant,p.Ala294Ser,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000517515,;	1327	107	124	SUCCESS
MTMR7	9108	.	GRCh37	8	17198946	17198946	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1397789228	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	88	0	ENST00000180173.5:c.658G>A	p.Glu220Lys	p.E220K	ENST00000180173	NM_004686.4	220	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34851.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCGTCCT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000180173	.	6/14	.	.	.	.	.	.	.	.	.	6/14	nonpreferredpair	ENST00000180173	Transcript	.	.	ENSG00000003987	7454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	deleterious(0.02)	.	MTMR7_HUMAN	MTMR7	HGNC	I0EZ69_HUMAN,B4E1E5_HUMAN,B4E1B6_HUMAN	.	UPI00004DFD27	SNV	MTMR7,missense_variant,p.Glu220Lys,ENST00000521857,;MTMR7,missense_variant,p.Glu220Lys,ENST00000180173,;MTMR7,non_coding_transcript_exon_variant,,ENST00000523571,;MTMR7,non_coding_transcript_exon_variant,,ENST00000518272,;MTMR7,non_coding_transcript_exon_variant,,ENST00000519122,;MTMR7,3_prime_UTR_variant,,ENST00000517317,;	693	88	81	SUCCESS
EBF2	64641	.	GRCh37	8	25898461	25898461	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	483	45	409	0	ENST00000520164.1:c.346A>C	p.Ser116Arg	p.S116R	ENST00000520164	NM_022659.3	116	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS43726.1	346	MUTECT|MUSE|VARSCANS	.	GTTGCTGTAGA	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000430241	.	3/16	.	.	.	.	.	.	.	.	.	3/16	nonpreferredpair	ENST00000520164	Transcript	.	.	ENSG00000221818	19090	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.942)	.	deleterious(0.01)	.	COE2_HUMAN	EBF2	HGNC	B7Z934_HUMAN,B2RNT0_HUMAN	.	UPI0000DD7EC9	SNV	EBF2,missense_variant,p.Ser116Arg,ENST00000520164,;EBF2,5_prime_UTR_variant,,ENST00000408929,;EBF2,non_coding_transcript_exon_variant,,ENST00000517825,;	884	410	529	SUCCESS
PREX2	80243	.	GRCh37	8	69104749	69104749	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs562309459	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	74	0	ENST00000288368.4:c.4593C>A	p.Ser1531Arg	p.S1531R	ENST00000288368	NM_024870.2	1531	agC/agA	0	.	T:0	.	T:0	.	A	S/R	protein_coding	YES	CCDS6201.1	4593	MUTECT|VARSCANS	.	AGCAGCGGTGT	NONE	by1000G	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	T:0	.	ENSP00000288368	T:0	37/40	.	.	.	.	.	.	.	.	rs562309459	37/40	nonpreferredpair	ENST00000288368	Transcript	.	T:0.0002	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.374)	T:0.001	deleterious(0)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ser1531Arg,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000522247,;PREX2,non_coding_transcript_exon_variant,,ENST00000520235,;	4870	74	60	SUCCESS
STK3	6788	.	GRCh37	8	99560362	99560362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	30	138	0	ENST00000419617.2:c.976A>T	p.Met326Leu	p.M326L	ENST00000419617	NM_006281.3	326	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS59108.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATGGTGT	NONE	.	.	hmmpanther:PTHR24361:SF247,hmmpanther:PTHR24361	.	.	ENSP00000429744	.	11/13	.	.	.	.	.	.	.	.	.	11/13	nonpreferredpair	ENST00000523601	Transcript	.	.	ENSG00000104375	11406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.25)	.	.	STK3	HGNC	B3KYA7_HUMAN	.	UPI00004FB517	SNV	STK3,missense_variant,p.Met354Leu,ENST00000523601,;STK3,missense_variant,p.Met326Leu,ENST00000419617,;STK3,missense_variant,p.Met215Leu,ENST00000518165,;STK3,non_coding_transcript_exon_variant,,ENST00000523159,;STK3,non_coding_transcript_exon_variant,,ENST00000518582,;STK3,non_coding_transcript_exon_variant,,ENST00000520440,;	1460	138	140	SUCCESS
C9orf171	0	.	GRCh37	9	135413022	135413022	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs182716958	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	23	96	0	ENST00000343036.2:c.667C>T	p.Arg223Trp	p.R223W	ENST00000343036	NM_207417.1	223	Cgg/Tgg	0	T:0	T:0.0008	.	T:0	.	T	R/W	protein_coding	YES	CCDS6949.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCGGTAC	NONE	byCluster|by1000G	.	Pfam_domain:PF14825	T:0	T:0.0002	ENSP00000343290	T:0	5/7	.	.	.	.	.	.	.	.	rs182716958,COSM3367615	5/7	nonpreferredpair	ENST00000343036	Transcript	.	T:0.0002	ENSG00000188523	33776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	T:0	deleterious(0)	0,1	CI171_HUMAN	C9orf171	HGNC	.	.	UPI00001C109C	SNV	C9orf171,missense_variant,p.Arg223Trp,ENST00000343036,;C9orf171,missense_variant,p.Arg187Trp,ENST00000393216,;	715	96	117	SUCCESS
RP11-262H14.3	0	.	GRCh37	9	66524050	66524050	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	10	0	ENST00000445604.2:n.792C>T		p.*264*	ENST00000445604				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUSE	.	CTTGCGTGGTC	NONE	.	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000445604	Transcript	.	.	ENSG00000234665	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-262H14.3	Clone_based_vega_gene	.	.	.	SNV	RP11-262H14.3,non_coding_transcript_exon_variant,,ENST00000438699,;RP11-262H14.3,non_coding_transcript_exon_variant,,ENST00000445604,;RP11-262H14.3,non_coding_transcript_exon_variant,,ENST00000585533,;RP11-262H14.3,intron_variant,,ENST00000586625,;RP11-262H14.3,intron_variant,,ENST00000591993,;RP11-262H14.7,upstream_gene_variant,,ENST00000590130,;	792	10	17	SUCCESS
TLR8	51311	.	GRCh37	X	12939183	12939183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	114	0	ENST00000218032.6:c.2024T>C	p.Met675Thr	p.M675T	ENST00000218032	NM_138636.4	675	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS14152.1	2024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATATGTTAA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.53)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Met693Thr,ENST00000311912,;TLR8,missense_variant,p.Met675Thr,ENST00000218032,;	2111	114	130	SUCCESS
OTUD5	55593	.	GRCh37	X	48814841	48814841	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	42	0	ENST00000156084.4:c.-9A>G		p.*3*	ENST00000156084	NM_017602.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14313.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACTGCCGA	NONE	.	.	.	.	.	ENSP00000156084	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000156084	Transcript	.	.	ENSG00000068308	25402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTUD5_HUMAN	OTUD5	HGNC	H7BZQ3_HUMAN	.	UPI000006ED2A	SNV	OTUD5,5_prime_UTR_variant,,ENST00000376488,;OTUD5,5_prime_UTR_variant,,ENST00000156084,;OTUD5,5_prime_UTR_variant,,ENST00000396743,;OTUD5,intron_variant,,ENST00000428668,;OTUD5,upstream_gene_variant,,ENST00000455452,;KCND1,downstream_gene_variant,,ENST00000218176,;KCND1,downstream_gene_variant,,ENST00000376477,;RNU6-722P,downstream_gene_variant,,ENST00000411377,;OTUD5,upstream_gene_variant,,ENST00000484499,;	53	43	77	SUCCESS
TRO	7216	.	GRCh37	X	54955568	54955598	+	frameshift_variant	Frame_Shift_Del	DEL	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	-	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	GTTTCAGCAGTGAAGCCAGCATTAGCTTTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	86	0	ENST00000173898.7:c.2411_2441del	p.Ser804MetfsTer140	p.S804Mfs*140	ENST00000173898	NM_001039705.2	804	aGTTTCAGCAGTGAAGCCAGCATTAGCTTTGGt/at	0	.	.	.	.	.	-	SFSSEASISFG/X	protein_coding	YES	CCDS43959.1	2411-2441	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACTAGTTTCAGCAGTGAAGCCAGCATTAGCTTTGGTGGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	nonpreferredpair	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	deletion	TRO,frameshift_variant,p.Ser407MetfsTer140,ENST00000375041,;TRO,frameshift_variant,p.Ser335MetfsTer140,ENST00000420798,;TRO,frameshift_variant,p.Ser804MetfsTer140,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000545676,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	2523-2553	86	113	SUCCESS
SPIN4	139886	.	GRCh37	X	62570624	62570624	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	38	71	0	ENST00000335144.3:c.75C>T	p.His25=	p.H25=	ENST00000335144	NM_001012968.2	25	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS43964.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGTGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10405:SF9,hmmpanther:PTHR10405	.	.	ENSP00000334163	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000335144	Transcript	.	.	ENSG00000186767	27040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIN4_HUMAN	SPIN4	HGNC	.	.	UPI000013FD3C	SNV	SPIN4,synonymous_variant,p.%3D,ENST00000335144,;SPIN4,synonymous_variant,p.%3D,ENST00000374884,;RP11-357C3.3,intron_variant,,ENST00000610234,;RP11-357C3.3,intron_variant,,ENST00000610088,;SPIN4-AS1,intron_variant,,ENST00000451979,;	595	71	75	SUCCESS
MAGEE2	139599	.	GRCh37	X	75004287	75004287	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs773363908	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	23	82	0	ENST00000373359.2:c.600G>A	p.Trp200Ter	p.W200*	ENST00000373359	NM_138703.4	200	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS14431.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCCAAAT	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	rs773363908,COSM3914243	1/1	nonpreferredpair	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,stop_gained,p.Trp200Ter,ENST00000373359,;	793	82	100	SUCCESS
CHM	1121	.	GRCh37	X	85218969	85218969	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	229	57	233	0	ENST00000357749.2:c.403G>C	p.Asp135His	p.D135H	ENST00000357749	NM_000390.2	135	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS14454.1	403	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCTGCAG	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000350386	.	5/15	.	.	.	.	.	.	.	.	.	5/15	nonpreferredpair	ENST00000357749	Transcript	.	.	ENSG00000188419	1940	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.08)	.	RAE1_HUMAN	CHM	HGNC	B4DRL9_HUMAN	.	UPI0000049C8C	SNV	CHM,missense_variant,p.Asp135His,ENST00000357749,;CHM,5_prime_UTR_variant,,ENST00000537751,;CHM,intron_variant,,ENST00000467744,;	433	233	286	SUCCESS
PCDH11X	27328	.	GRCh37	X	91090988	91090988	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761488640	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	89	198	0	ENST00000373094.1:c.485C>T	p.Ala162Val	p.A162V	ENST00000373094	NM_032968.3	162	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14461.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCGGCTG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	1/7	.	.	.	.	.	.	.	.	rs761488640,COSM3372348,COSM3372352,COSM3372351,COSM3372350,COSM3372349	1/7	nonpreferredpair	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	benign(0.086)	.	tolerated(0.27)	0,1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Ala162Val,ENST00000373088,;PCDH11X,missense_variant,p.Ala162Val,ENST00000361724,;PCDH11X,missense_variant,p.Ala162Val,ENST00000395337,;PCDH11X,missense_variant,p.Ala162Val,ENST00000298274,;PCDH11X,missense_variant,p.Ala162Val,ENST00000504220,;PCDH11X,missense_variant,p.Ala162Val,ENST00000406881,;PCDH11X,missense_variant,p.Ala162Val,ENST00000373094,;PCDH11X,missense_variant,p.Ala162Val,ENST00000373097,;PCDH11X,missense_variant,p.Ala162Val,ENST00000361655,;	1330	198	209	SUCCESS
TTC40	0	.	GRCh37	10	134751175	134751175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	26	89	0	ENST00000368586.5:c.541C>A	p.Leu181Ile	p.L181I	ENST00000368586	NM_001200049.2	181	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS58101.1	541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGTTCCC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	6/58	.	.	.	.	.	.	.	.	.	6/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Leu181Ile,ENST00000368582,;TTC40,missense_variant,p.Leu181Ile,ENST00000368585,;TTC40,missense_variant,p.Leu181Ile,ENST00000368586,;TTC40,non_coding_transcript_exon_variant,,ENST00000475340,;	642	89	37	SUCCESS
DNAJC1	64215	.	GRCh37	10	22048461	22048461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	47	268	0	ENST00000376980.3:c.1234A>T	p.Thr412Ser	p.T412S	ENST00000376980	NM_022365.3	412	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7136.1	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTGATCA	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF130	.	.	ENSP00000366179	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000376980	Transcript	.	.	ENSG00000136770	20090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.06)	.	DNJC1_HUMAN	DNAJC1	HGNC	Q96NY3_HUMAN	.	UPI0000049FEF	SNV	DNAJC1,missense_variant,p.Thr412Ser,ENST00000376980,;DNAJC1,non_coding_transcript_exon_variant,,ENST00000483085,;	1525	268	142	SUCCESS
ANKRD26	22852	.	GRCh37	10	27352965	27352965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	196	0	ENST00000376087.4:c.1315G>T	p.Gly439Trp	p.G439W	ENST00000376087	NM_014915.2	439	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS41499.1	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCAGCTA	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Gly439Trp,ENST00000376087,;ANKRD26,missense_variant,p.Gly488Trp,ENST00000436985,;ANKRD26,downstream_gene_variant,,ENST00000473304,;	1481	196	105	SUCCESS
WDFY4	57705	.	GRCh37	10	49939462	49939462	+	synonymous_variant	Silent	SNP	G	G	T	rs372273417	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	50	0	ENST00000325239.5:c.1437G>T	p.Gly479=	p.G479=	ENST00000325239	NM_020945.1	479	ggG/ggT	0	.	A:0	.	A:0.0014	.	T	G	protein_coding	YES	CCDS44385.1	1437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGCCATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	A:0.002	.	ENSP00000320563	A:0	8/61	.	.	.	.	.	.	.	.	rs372273417	8/61	PASS	ENST00000325239	Transcript	.	A:0.0006	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000413659,;WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000360890,;	1464	50	34	SUCCESS
STOX1	219736	.	GRCh37	10	70652470	70652470	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	69	273	0	ENST00000298596.6:c.2948T>C	p.Leu983Pro	p.L983P	ENST00000298596	NM_152709.4	983	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS41535.1	2948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCTAACTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1	.	.	ENSP00000298596	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298596	Transcript	1	.	ENSG00000165730	23508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	STOX1_HUMAN	STOX1	HGNC	C9JRL1_HUMAN	.	UPI00004B59B0	SNV	STOX1,missense_variant,p.Leu983Pro,ENST00000298596,;STOX1,missense_variant,p.Leu873Pro,ENST00000421961,;STOX1,missense_variant,p.Leu983Pro,ENST00000399169,;STOX1,3_prime_UTR_variant,,ENST00000399162,;STOX1,3_prime_UTR_variant,,ENST00000399165,;	3031	273	164	SUCCESS
ZNF503-AS2	100131213	.	GRCh37	10	77167385	77167385	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	89	0	ENST00000425916.3:n.671C>A		p.*224*	ENST00000425916				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	GAACCCCCAGA	NONE	.	1530	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000609200	Transcript	.	.	ENSG00000272692	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-399K21.14	Clone_based_vega_gene	.	.	.	SNV	RP11-399K21.14,upstream_gene_variant,,ENST00000609200,;RP11-399K21.13,downstream_gene_variant,,ENST00000609182,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000466942,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000425916,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000486015,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000527641,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000484411,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000491557,;	.	89	48	SUCCESS
ATM	472	.	GRCh37	11	108172499	108172499	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	15	156	0	ENST00000278616.4:c.5302A>G	p.Arg1768Gly	p.R1768G	ENST00000278616	NM_000051.3	1768	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS31669.1	5302	MUTECT|MUSE|VARSCANS	.	CTTTTAGAACA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	35/63	.	.	.	.	.	.	.	.	.	35/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.339)	.	deleterious(0)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Arg1768Gly,ENST00000278616,;ATM,missense_variant,p.Arg1768Gly,ENST00000452508,;ATM,non_coding_transcript_exon_variant,,ENST00000534625,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000529588,;	5687	156	103	SUCCESS
SLC17A6	57084	.	GRCh37	11	22360043	22360043	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	119	0	ENST00000263160.3:c.-37T>C		p.*13*	ENST00000263160	NM_020346.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7856.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATTTAAAT	NONE	.	.	.	.	.	ENSP00000263160	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,5_prime_UTR_variant,,ENST00000263160,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	401	119	66	SUCCESS
OR51E2	81285	.	GRCh37	11	4703712	4703712	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	85	0	ENST00000396950.3:c.230T>A	p.Met77Lys	p.M77K	ENST00000396950	NM_030774.3	77	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS7751.1	230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCATGGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF99,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000380153	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396950	Transcript	.	.	ENSG00000167332	15195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	deleterious(0)	.	O51E2_HUMAN	OR51E2	HGNC	E9PPJ8_HUMAN	.	UPI000003B49B	SNV	OR51E2,missense_variant,p.Met77Lys,ENST00000532598,;OR51E2,missense_variant,p.Met77Lys,ENST00000396950,;	470	85	32	SUCCESS
DPP3	10072	.	GRCh37	11	66249912	66249912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	33	0	ENST00000541961.1:c.241G>T	p.Ala81Ser	p.A81S	ENST00000541961		81	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8141.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGCTGAA	NONE	.	.	hmmpanther:PTHR23422,hmmpanther:PTHR23422:SF10,PIRSF_domain:PIRSF007828	.	.	ENSP00000353701	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000360510	Transcript	.	.	ENSG00000254986	3008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	DPP3_HUMAN	DPP3	HGNC	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN	.	UPI000012983B	SNV	DPP3,missense_variant,p.Ala81Ser,ENST00000360510,;DPP3,missense_variant,p.Ala81Ser,ENST00000530165,;DPP3,missense_variant,p.Ala100Ser,ENST00000532677,;DPP3,missense_variant,p.Ala81Ser,ENST00000526515,;DPP3,missense_variant,p.Ala81Ser,ENST00000531354,;DPP3,missense_variant,p.Ala81Ser,ENST00000453114,;DPP3,missense_variant,p.Ala81Ser,ENST00000541961,;DPP3,missense_variant,p.Ala101Ser,ENST00000531863,;DPP3,missense_variant,p.Ala81Ser,ENST00000531314,;DPP3,5_prime_UTR_variant,,ENST00000532019,;DPP3,intron_variant,,ENST00000533725,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527092,;CTD-3074O7.5,upstream_gene_variant,,ENST00000533502,;CTD-3074O7.5,upstream_gene_variant,,ENST00000525142,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527274,;DPP3,non_coding_transcript_exon_variant,,ENST00000544603,;DPP3,non_coding_transcript_exon_variant,,ENST00000531272,;	306	33	42	SUCCESS
MYO7A	4647	.	GRCh37	11	76858899	76858899	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	63	0	ENST00000409709.3:c.188C>G	p.Ser63Trp	p.S63W	ENST00000409709	NM_000260.3	63	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS53683.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCGGTCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386331	.	4/49	.	.	.	.	.	.	.	.	.	4/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Ser63Trp,ENST00000409893,;MYO7A,missense_variant,p.Ser52Trp,ENST00000409619,;MYO7A,missense_variant,p.Ser63Trp,ENST00000409709,;MYO7A,missense_variant,p.Ser63Trp,ENST00000458637,;	460	63	46	SUCCESS
GCN1L1	0	.	GRCh37	12	120602144	120602144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	82	0	ENST00000300648.6:c.1844A>G	p.His615Arg	p.H615R	ENST00000300648	NM_006836.1	615	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS41847.1	1844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGTGAGAA	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF12074,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	18/58	.	.	.	.	.	.	.	.	.	18/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.416)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.His615Arg,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000550471,;GCN1L1,downstream_gene_variant,,ENST00000551549,;GCN1L1,upstream_gene_variant,,ENST00000547369,;	1857	82	71	SUCCESS
RNF10	9921	.	GRCh37	12	121013648	121013648	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	159	0	ENST00000325954.4:c.2254A>T	p.Asn752Tyr	p.N752Y	ENST00000325954	NM_014868.4	752	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS9201.1	2254	RADIA|MUTECT|MUSE|VARSCANS	.	GTGATAATTCA	NONE	.	.	hmmpanther:PTHR12983	.	.	ENSP00000322242	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000325954	Transcript	.	.	ENSG00000022840	10055	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.781)	.	tolerated(0.08)	.	RNF10_HUMAN	RNF10	HGNC	F5H3A4_HUMAN	.	UPI000006D77E	SNV	RNF10,missense_variant,p.Asn87Tyr,ENST00000538254,;RNF10,missense_variant,p.Asn757Tyr,ENST00000413266,;RNF10,missense_variant,p.Asn752Tyr,ENST00000325954,;POP5,downstream_gene_variant,,ENST00000341039,;POP5,downstream_gene_variant,,ENST00000357500,;RNF10,non_coding_transcript_exon_variant,,ENST00000543757,;RNF10,non_coding_transcript_exon_variant,,ENST00000542701,;RNF10,non_coding_transcript_exon_variant,,ENST00000535470,;POP5,downstream_gene_variant,,ENST00000543355,;POP5,downstream_gene_variant,,ENST00000542776,;RNF10,3_prime_UTR_variant,,ENST00000545419,;RNF10,non_coding_transcript_exon_variant,,ENST00000544805,;POP5,downstream_gene_variant,,ENST00000511394,;POP5,downstream_gene_variant,,ENST00000541834,;POP5,downstream_gene_variant,,ENST00000539716,;POP5,downstream_gene_variant,,ENST00000535245,;RNF10,downstream_gene_variant,,ENST00000366112,;POP5,downstream_gene_variant,,ENST00000542568,;	2715	159	97	SUCCESS
MLXIP	22877	.	GRCh37	12	122623457	122623457	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs968950565	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	10	342	0	ENST00000319080.7:c.2480G>A	p.Arg827Gln	p.R827Q	ENST00000319080	NM_014938.4_dupl16	827	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	2480	MUTECT|MUSE	.	AACCCGGACCT	NONE	.	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	.	.	ENSP00000312834	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.421)	.	tolerated(0.25)	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,missense_variant,p.Arg298Gln,ENST00000366272,;MLXIP,missense_variant,p.Arg434Gln,ENST00000538698,;MLXIP,missense_variant,p.Arg827Gln,ENST00000319080,;MLXIP,intron_variant,,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000377037,;MLXIP,downstream_gene_variant,,ENST00000535996,;MLXIP,downstream_gene_variant,,ENST00000539861,;MLXIP,downstream_gene_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000538061,;	2612	342	177	SUCCESS
GPR84	53831	.	GRCh37	12	54757477	54757477	+	synonymous_variant	Silent	SNP	G	G	A	rs143236488	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	146	0	ENST00000267015.3:c.159C>T	p.Thr53=	p.T53=	ENST00000267015	NM_020370.2	53	acC/acT	0	.	A:0.0008	.	A:0	.	A	T	protein_coding	YES	CCDS8878.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCGGGTACG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF59,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	.	ENSP00000450310	A:0	1/1	.	.	.	.	.	.	.	.	rs143236488	1/1	PASS	ENST00000551809	Transcript	.	A:0.0002	ENSG00000139572	4535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,synonymous_variant,p.%3D,ENST00000551809,;GPR84,synonymous_variant,p.%3D,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	795	146	126	SUCCESS
CNPY2	10330	.	GRCh37	12	56708752	56708752	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	119	0	ENST00000273308.4:c.89-2A>G		p.X30_splice	ENST00000273308	NM_014255.5	30		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8914.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGGTGG	NONE	.	.	.	.	.	ENSP00000273308	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273308	Transcript	.	.	ENSG00000257727	13529	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPY2_HUMAN	CNPY2	HGNC	H0YI18_HUMAN,F8W1K5_HUMAN,F8VXJ7_HUMAN	.	UPI000004C630	SNV	CNPY2,splice_acceptor_variant,,ENST00000551475,;CNPY2,splice_acceptor_variant,,ENST00000551286,;RP11-977G19.10,splice_acceptor_variant,,ENST00000549318,;RP11-977G19.10,splice_acceptor_variant,,ENST00000548360,;RP11-977G19.10,splice_acceptor_variant,,ENST00000547423,;CNPY2,splice_acceptor_variant,,ENST00000273308,;PAN2,downstream_gene_variant,,ENST00000425394,;PAN2,downstream_gene_variant,,ENST00000257931,;PAN2,downstream_gene_variant,,ENST00000440411,;PAN2,downstream_gene_variant,,ENST00000548043,;RP11-977G19.11,downstream_gene_variant,,ENST00000549860,;RP11-977G19.11,downstream_gene_variant,,ENST00000549565,;CNPY2,splice_acceptor_variant,,ENST00000551720,;CNPY2,splice_acceptor_variant,,ENST00000551276,;PAN2,downstream_gene_variant,,ENST00000549090,;CNPY2,splice_acceptor_variant,,ENST00000547570,;CNPY2,splice_acceptor_variant,,ENST00000548013,;CNPY2,splice_acceptor_variant,,ENST00000553164,;CNPY2,coding_sequence_variant,p.%3D,ENST00000553191,;CNPY2,non_coding_transcript_exon_variant,,ENST00000546388,;PAN2,downstream_gene_variant,,ENST00000547226,;PAN2,downstream_gene_variant,,ENST00000552630,;CNPY2,upstream_gene_variant,,ENST00000546937,;PAN2,downstream_gene_variant,,ENST00000550028,;PAN2,downstream_gene_variant,,ENST00000551359,;PAN2,downstream_gene_variant,,ENST00000553230,;PAN2,downstream_gene_variant,,ENST00000547100,;CNPY2,upstream_gene_variant,,ENST00000546466,;	.	119	76	SUCCESS
PTPRB	5787	.	GRCh37	12	70960239	70960239	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374292920	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	131	512	0	ENST00000261266.5:c.3226G>C	p.Glu1076Gln	p.E1076Q	ENST00000261266	NM_002837.4	1076	Gaa/Caa	0	T:0	.	.	.	.	G	E/Q	protein_coding	YES	CCDS44943.1	3880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCCTTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	T:0.0002	ENSP00000334928	.	15/34	.	.	.	.	.	.	.	.	rs374292920	15/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.32)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Glu1206Gln,ENST00000550358,;PTPRB,missense_variant,p.Glu1293Gln,ENST00000551525,;PTPRB,missense_variant,p.Glu1076Gln,ENST00000261266,;PTPRB,missense_variant,p.Glu986Gln,ENST00000451516,;PTPRB,missense_variant,p.Glu1173Gln,ENST00000548122,;PTPRB,missense_variant,p.Glu986Gln,ENST00000550857,;PTPRB,missense_variant,p.Glu1294Gln,ENST00000334414,;PTPRB,intron_variant,,ENST00000538708,;	3925	512	319	SUCCESS
SLC2A3	6515	.	GRCh37	12	8086448	8086448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	44	184	0	ENST00000075120.7:c.66C>A	p.Phe22Leu	p.F22L	ENST00000075120	NM_006931.2	22	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS8586.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGAAAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Superfamily_domains:SSF103473,Prints_domain:PR00171	.	.	ENSP00000075120	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000075120	Transcript	.	.	ENSG00000059804	11007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.81)	.	GTR3_HUMAN	SLC2A3	HGNC	.	.	UPI0000001C7D	SNV	SLC2A3,missense_variant,p.Phe22Leu,ENST00000075120,;SLC2A3,intron_variant,,ENST00000544291,;SLC2A3,missense_variant,p.Phe22Leu,ENST00000544936,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000476634,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000541671,;SLC2A3,upstream_gene_variant,,ENST00000479059,;SLC2A3,upstream_gene_variant,,ENST00000490763,;	307	184	124	SUCCESS
CCDC168	643677	.	GRCh37	13	103381888	103381888	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	177	0	ENST00000322527.2:c.7272G>A	p.Lys2424=	p.K2424=	ENST00000322527	NM_001146197.1	2424	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	.	7272	MUTECT|MUSE	.	GAAATCTTTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,synonymous_variant,p.%3D,ENST00000322527,;	7272	177	104	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102466376	102466376	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	108	0	ENST00000360184.4:c.3855G>A	p.Gly1285=	p.G1285=	ENST00000360184	NM_001376.4	1285	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9966.1	3855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGAAGTT	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	17/78	.	.	.	.	.	.	.	.	.	17/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;	4019	108	60	SUCCESS
AHNAK2	113146	.	GRCh37	14	105416248	105416248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	31	287	0	ENST00000333244.5:c.5540A>G	p.Asp1847Gly	p.D1847G	ENST00000333244	NM_138420.2	1847	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS45177.1	5540	RADIA|MUTECT|MUSE|VARSCANS	.	ACACATCCACC	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Asp1847Gly,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	5660	287	141	SUCCESS
RP11-468E2.9	0	.	GRCh37	14	24517998	24517998	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs759806033	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	286	162	754	0	ENST00000606840.1:n.653T>C		p.*218*	ENST00000606840				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32054.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATCAAGA	NONE	byFrequency	3211	.	.	.	ENSP00000340467	.	.	.	.	.	.	.	.	.	.	rs759806033	.	PASS	ENST00000342740	Transcript	.	.	ENSG00000186648	20272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16B_HUMAN	LRRC16B	HGNC	.	.	UPI0000DBEF11	SNV	LRRC16B,upstream_gene_variant,,ENST00000342740,;LRRC16B,upstream_gene_variant,,ENST00000334420,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000558293,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000559270,;RP11-468E2.9,intron_variant,,ENST00000558622,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000606840,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000397065,;	.	755	449	SUCCESS
PRKXP1	441733	.	GRCh37	15	101098944	101098944	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	62	0	ENST00000561423.2:n.216G>T		p.*72*	ENST00000561423				0	.	.	.	.	.	A	.	snRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	AAATGCTTGGC	NONE	.	1947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000363225	Transcript	.	.	ENSG00000200095	47144	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RNU6-181P	HGNC	.	.	.	SNV	RNU6-181P,downstream_gene_variant,,ENST00000363225,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000559349,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000557839,;LINS,downstream_gene_variant,,ENST00000560783,;PRKXP1,non_coding_transcript_exon_variant,,ENST00000561423,;	.	62	16	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40268641	40268641	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	70	0	ENST00000263791.5:c.1845C>T	p.Cys615=	p.C615=	ENST00000263791	NM_001013703.2	615	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS42016.1	1845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTACGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000660,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263791	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,synonymous_variant,p.%3D,ENST00000560855,;EIF2AK4,synonymous_variant,p.%3D,ENST00000382727,;EIF2AK4,synonymous_variant,p.%3D,ENST00000263791,;EIF2AK4,downstream_gene_variant,,ENST00000559624,;	1888	70	44	SUCCESS
TYRO3	7301	.	GRCh37	15	41860523	41860523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	99	0	ENST00000263798.3:c.1070C>A	p.Pro357His	p.P357H	ENST00000263798	NM_006293.3	357	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS10080.1	1070	RADIA|MUTECT	.	GGGACCCTACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000263798	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000263798	Transcript	.	.	ENSG00000092445	12446	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	TYRO3_HUMAN	TYRO3	HGNC	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN	.	UPI000013788A	SNV	TYRO3,missense_variant,p.Pro357His,ENST00000263798,;TYRO3,missense_variant,p.Pro312His,ENST00000559066,;TYRO3,upstream_gene_variant,,ENST00000568343,;TYRO3,missense_variant,p.Pro90His,ENST00000559815,;TYRO3,downstream_gene_variant,,ENST00000560227,;TYRO3,upstream_gene_variant,,ENST00000559851,;TYRO3,upstream_gene_variant,,ENST00000560162,;	1294	99	56	SUCCESS
HERC1	8925	.	GRCh37	15	63991120	63991120	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748628494	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	13	137	0	ENST00000443617.2:c.4712A>G	p.Asn1571Ser	p.N1571S	ENST00000443617	NM_003922.3	1571	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45277.1	4712	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTTGCAT	NONE	byFrequency	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	26/78	.	.	.	.	.	.	.	.	rs748628494	26/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Asn1571Ser,ENST00000443617,;HERC1,missense_variant,p.Asn555Ser,ENST00000561400,;RP11-317G6.1,intron_variant,,ENST00000559303,;	4800	137	81	SUCCESS
GLCE	26035	.	GRCh37	15	69548133	69548133	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	208	0	ENST00000261858.2:c.-13G>T		p.X5_splice	ENST00000261858	NM_015554.1	5		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32277.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGTATGG	NONE	.	.	.	.	.	ENSP00000261858	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000261858	Transcript	.	.	ENSG00000138604	17855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLCE_HUMAN	GLCE	HGNC	H0YNP1_HUMAN	.	UPI00001D7785	SNV	GLCE,splice_region_variant,,ENST00000261858,;GLCE,5_prime_UTR_variant,,ENST00000559420,;RN7SL438P,upstream_gene_variant,,ENST00000494456,;GLCE,upstream_gene_variant,,ENST00000559500,;	216	209	84	SUCCESS
SCAPER	49855	.	GRCh37	15	77134131	77134131	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	79	242	0	ENST00000324767.7:c.337G>A	p.Ala113Thr	p.A113T	ENST00000324767	NM_020843.2	113	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS53962.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGCTCGGC	NONE	.	.	hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2	.	.	ENSP00000454973	.	5/32	.	.	.	.	.	.	.	.	.	5/32	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Ala113Thr,ENST00000324767,;SCAPER,missense_variant,p.Ala113Thr,ENST00000563290,;SCAPER,missense_variant,p.Ala113Thr,ENST00000564590,;SCAPER,missense_variant,p.Ala113Thr,ENST00000565970,;SCAPER,5_prime_UTR_variant,,ENST00000538941,;SCAPER,5_prime_UTR_variant,,ENST00000564177,;SCAPER,intron_variant,,ENST00000565372,;SCAPER,intron_variant,,ENST00000568382,;SCAPER,downstream_gene_variant,,ENST00000563919,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	433	242	138	SUCCESS
ABCC6	368	.	GRCh37	16	16244451	16244451	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759407080	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	76	0	ENST00000205557.7:c.4387G>T	p.Val1463Leu	p.V1463L	ENST00000205557	NM_001171.5	1463	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS10568.1	4387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACGGAGC	NONE	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00957,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	.	.	ENSP00000205557	.	30/31	.	.	.	.	.	.	.	.	rs759407080	30/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	tolerated(0.1)	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,missense_variant,p.Val1463Leu,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;ABCC6,non_coding_transcript_exon_variant,,ENST00000576204,;	4417	76	52	SUCCESS
GTF3C1	2975	.	GRCh37	16	27517278	27517278	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs140459536	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	37	137	0	ENST00000356183.4:c.1712C>A	p.Ala571Glu	p.A571E	ENST00000356183	NM_001520.3	571	gCg/gAg	0	A:0.0002	.	.	.	.	T	A/E	protein_coding	YES	CCDS32414.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGCACAG	NONE	byCluster	.	hmmpanther:PTHR15180	.	A:0.0001	ENSP00000348510	.	10/37	.	.	.	.	.	.	.	.	rs140459536	10/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,missense_variant,p.Ala571Glu,ENST00000561623,;GTF3C1,missense_variant,p.Ala571Glu,ENST00000356183,;GTF3C1,upstream_gene_variant,,ENST00000569653,;	1728	137	93	SUCCESS
HYDIN	54768	.	GRCh37	16	70891690	70891690	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	31	234	0	ENST00000393567.2:c.12213C>A	p.Val4071=	p.V4071=	ENST00000393567	NM_001270974.1	4071	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS59269.1	12213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGACTGT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	72/86	.	.	.	.	.	.	.	.	.	72/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;RNU6ATAC25P,downstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;HYDIN,3_prime_UTR_variant,,ENST00000546257,;	12364	234	96	SUCCESS
AP1G1	164	.	GRCh37	16	71823203	71823203	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	46	157	0	ENST00000299980.4:c.180C>T	p.Gly60=	p.G60=	ENST00000299980	NM_001128.5	60	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45522.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTAGCCCAG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,synonymous_variant,p.%3D,ENST00000569748,;AP1G1,synonymous_variant,p.%3D,ENST00000569185,;AP1G1,synonymous_variant,p.%3D,ENST00000567583,;AP1G1,synonymous_variant,p.%3D,ENST00000433195,;AP1G1,synonymous_variant,p.%3D,ENST00000563104,;AP1G1,synonymous_variant,p.%3D,ENST00000563259,;AP1G1,synonymous_variant,p.%3D,ENST00000565412,;AP1G1,synonymous_variant,p.%3D,ENST00000393512,;AP1G1,synonymous_variant,p.%3D,ENST00000299980,;AP1G1,synonymous_variant,p.%3D,ENST00000423132,;AP1G1,downstream_gene_variant,,ENST00000570017,;AP1G1,downstream_gene_variant,,ENST00000569975,;AP1G1,downstream_gene_variant,,ENST00000570297,;AP1G1,synonymous_variant,p.%3D,ENST00000568327,;AP1G1,synonymous_variant,p.%3D,ENST00000565009,;AP1G1,synonymous_variant,p.%3D,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000566161,;	622	157	99	SUCCESS
AP1G1	164	.	GRCh37	16	71823204	71823204	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	160	0	ENST00000299980.4:c.179G>T	p.Gly60Val	p.G60V	ENST00000299980	NM_001128.5	60	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45522.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCCCAGC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,missense_variant,p.Gly60Val,ENST00000569748,;AP1G1,missense_variant,p.Gly60Val,ENST00000569185,;AP1G1,missense_variant,p.Gly60Val,ENST00000567583,;AP1G1,missense_variant,p.Gly83Val,ENST00000433195,;AP1G1,missense_variant,p.Gly60Val,ENST00000563104,;AP1G1,missense_variant,p.Gly60Val,ENST00000563259,;AP1G1,missense_variant,p.Gly60Val,ENST00000565412,;AP1G1,missense_variant,p.Gly60Val,ENST00000393512,;AP1G1,missense_variant,p.Gly60Val,ENST00000299980,;AP1G1,missense_variant,p.Gly60Val,ENST00000423132,;AP1G1,downstream_gene_variant,,ENST00000570017,;AP1G1,downstream_gene_variant,,ENST00000569975,;AP1G1,downstream_gene_variant,,ENST00000570297,;AP1G1,missense_variant,p.Gly60Val,ENST00000568327,;AP1G1,missense_variant,p.Gly60Val,ENST00000565009,;AP1G1,missense_variant,p.Gly60Val,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000566161,;	621	160	99	SUCCESS
TBC1D26	353149	.	GRCh37	17	15642100	15642100	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	rs752787510	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	74	474	0	ENST00000469477.2:c.453C>T	p.His151=	p.H151=	ENST00000469477		151	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS42265.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACACCCT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF242,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000410111	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000437605	Transcript	.	.	ENSG00000214946	28745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC26_HUMAN	TBC1D26	HGNC	J3QQK9_HUMAN,J3QLL4_HUMAN	.	UPI0000246DD7	SNV	TBC1D26,synonymous_variant,p.%3D,ENST00000437605,;TBC1D26,synonymous_variant,p.%3D,ENST00000579428,;TBC1D26,downstream_gene_variant,,ENST00000584301,;ZNF286A,downstream_gene_variant,,ENST00000593105,;TBC1D26,downstream_gene_variant,,ENST00000580596,;TBC1D26,downstream_gene_variant,,ENST00000464963,;TBC1D26,downstream_gene_variant,,ENST00000578506,;AC005324.6,non_coding_transcript_exon_variant,,ENST00000433873,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,downstream_gene_variant,,ENST00000580194,;ZNF286A,downstream_gene_variant,,ENST00000583675,;TBC1D26,downstream_gene_variant,,ENST00000583620,;TBC1D26,downstream_gene_variant,,ENST00000582140,;ZNF286A,downstream_gene_variant,,ENST00000585171,;TBC1D26,downstream_gene_variant,,ENST00000582534,;TBC1D26,synonymous_variant,p.%3D,ENST00000469477,;ZNF286A,3_prime_UTR_variant,,ENST00000413242,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000580970,;ZNF286A,downstream_gene_variant,,ENST00000412988,;	703	474	159	SUCCESS
MPO	4353	.	GRCh37	17	56355395	56355395	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	53	0	ENST00000225275.3:c.997C>T	p.Leu333Phe	p.L333F	ENST00000225275	NM_000250.1	333	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11604.1	997	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGAGCGCGT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000225275	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,missense_variant,p.Leu365Phe,ENST00000340482,;MPO,missense_variant,p.Leu333Phe,ENST00000225275,;MPO,upstream_gene_variant,,ENST00000577220,;MPO,non_coding_transcript_exon_variant,,ENST00000578493,;MPO,downstream_gene_variant,,ENST00000580005,;MPO,downstream_gene_variant,,ENST00000581022,;	1174	53	47	SUCCESS
RPS6KB1	6198	.	GRCh37	17	58013587	58013587	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	136	275	1	ENST00000225577.4:c.990A>T	p.Arg330Ser	p.R330S	ENST00000225577	NM_001272044.1	330	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11621.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAAATGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF48,hmmpanther:PTHR24351,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000225577	.	11/15	.	.	.	.	.	.	.	.	COSM3958606	11/15	PASS	ENST00000225577	Transcript	.	.	ENSG00000108443	10436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.96)	.	deleterious(0)	1	KS6B1_HUMAN	RPS6KB1	HGNC	K7EIM2_HUMAN,B4DLT4_HUMAN	.	UPI000013C873	SNV	RPS6KB1,missense_variant,p.Arg330Ser,ENST00000406116,;RPS6KB1,missense_variant,p.Arg330Ser,ENST00000225577,;RPS6KB1,missense_variant,p.Arg307Ser,ENST00000443572,;RPS6KB1,missense_variant,p.Arg277Ser,ENST00000393021,;RP11-178C3.1,upstream_gene_variant,,ENST00000591035,;RPS6KB1,3_prime_UTR_variant,,ENST00000472940,;RPS6KB1,downstream_gene_variant,,ENST00000489824,;RPS6KB1,downstream_gene_variant,,ENST00000587622,;RPS6KB1,downstream_gene_variant,,ENST00000590928,;	1011	276	229	SUCCESS
MRC2	9902	.	GRCh37	17	60743465	60743465	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	29	58	0	ENST00000303375.5:c.531C>T	p.Thr177=	p.T177=	ENST00000303375	NM_006039.4	177	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11634.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACCATCCA	NONE	.	.	hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:2.10.10.10,Superfamily_domains:SSF57440	.	.	ENSP00000307513	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,synonymous_variant,p.%3D,ENST00000303375,;Y_RNA,upstream_gene_variant,,ENST00000384652,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	933	58	45	SUCCESS
MAP2K6	5608	.	GRCh37	17	67521065	67521065	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	76	132	0	ENST00000590474.1:c.687C>T	p.Leu229=	p.L229=	ENST00000590474	NM_002758.3	229	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11686.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCAACCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF40,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000468348	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000590474	Transcript	.	.	ENSG00000108984	6846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP2K6_HUMAN	MAP2K6	HGNC	K7ELM6_HUMAN,A8K3Y2_HUMAN	.	UPI000012F492	SNV	MAP2K6,synonymous_variant,p.%3D,ENST00000589647,;MAP2K6,synonymous_variant,p.%3D,ENST00000590474,;MAP2K6,downstream_gene_variant,,ENST00000588110,;MAP2K6,downstream_gene_variant,,ENST00000589295,;MAP2K6,3_prime_UTR_variant,,ENST00000359094,;MAP2K6,downstream_gene_variant,,ENST00000591445,;MAP2K6,downstream_gene_variant,,ENST00000586641,;	974	132	135	SUCCESS
ITGB4	3691	.	GRCh37	17	73738509	73738509	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	39	0	ENST00000200181.3:c.2721A>G	p.Glu907=	p.E907=	ENST00000200181	NM_000213.3	907	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS11727.1	2721	RADIA|VARSCANS	.	GTGGAACAGAG	NONE	.	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513	.	.	ENSP00000200181	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,synonymous_variant,p.%3D,ENST00000579662,;ITGB4,synonymous_variant,p.%3D,ENST00000450894,;ITGB4,synonymous_variant,p.%3D,ENST00000339591,;ITGB4,synonymous_variant,p.%3D,ENST00000449880,;ITGB4,synonymous_variant,p.%3D,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;	2908	39	38	SUCCESS
GAA	2548	.	GRCh37	17	78091993	78091993	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	57	0	ENST00000302262.3:c.2483G>T	p.Gly828Val	p.G828V	ENST00000302262	NM_000152.3	828	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32760.1	2483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCCCTG	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48	.	.	ENSP00000305692	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000302262	Transcript	.	.	ENSG00000171298	4065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.26)	.	LYAG_HUMAN	GAA	HGNC	I3L3L3_HUMAN,I3L0S5_HUMAN	.	UPI00000744FF	SNV	GAA,missense_variant,p.Gly828Val,ENST00000390015,;GAA,missense_variant,p.Gly828Val,ENST00000302262,;GAA,splice_region_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000570716,;GAA,downstream_gene_variant,,ENST00000572080,;	2702	57	57	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79409035	79409035	+	synonymous_variant	Silent	SNP	G	G	A	rs1335460508	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	45	0	ENST00000307745.7:c.660G>A	p.Val220=	p.V220=	ENST00000307745		220	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	.	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGGGCAA	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,synonymous_variant,p.%3D,ENST00000571813,;RP11-1055B8.7,synonymous_variant,p.%3D,ENST00000307745,;RP11-1055B8.7,upstream_gene_variant,,ENST00000570375,;	660	45	39	SUCCESS
RAB40B	10966	.	GRCh37	17	80615904	80615904	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	112	0	ENST00000571995.1:c.672del	p.Phe225SerfsTer7	p.F225Sfs*7	ENST00000571995	NM_006822.2	224	tcC/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS11816.1	672	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGAAGGACTT	NONE	.	.	PROSITE_profiles:PS50225,hmmpanther:PTHR24073:SF344,hmmpanther:PTHR24073,SMART_domains:SM00253,SMART_domains:SM00969,Superfamily_domains:SSF158235	.	.	ENSP00000461785	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000571995	Transcript	.	.	ENSG00000141542	18284	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB40B_HUMAN	RAB40B	HGNC	J3KN64_HUMAN	.	UPI0000133001	deletion	RAB40B,frameshift_variant,p.Phe225SerfsTer7,ENST00000571995,;RAB40B,frameshift_variant,p.Phe46SerfsTer7,ENST00000269347,;RAB40B,3_prime_UTR_variant,,ENST00000538809,;RAB40B,3_prime_UTR_variant,,ENST00000576148,;RAB40B,upstream_gene_variant,,ENST00000571880,;RAB40B,downstream_gene_variant,,ENST00000571554,;RAB40B,downstream_gene_variant,,ENST00000572603,;RAB40B,non_coding_transcript_exon_variant,,ENST00000574132,;RAB40B,non_coding_transcript_exon_variant,,ENST00000576359,;RAB40B,non_coding_transcript_exon_variant,,ENST00000570676,;RAB40B,non_coding_transcript_exon_variant,,ENST00000573395,;	804	112	66	SUCCESS
CPAMD8	27151	.	GRCh37	19	17038989	17038989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200032712	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	45	0	ENST00000443236.1:c.3341C>T	p.Pro1114Leu	p.P1114L	ENST00000443236	NM_015692.2	1114	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42519.1	3341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGGGAGG	NONE	byCluster	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412,Pfam_domain:PF12248	.	.	ENSP00000402505	.	25/42	.	.	.	.	.	.	.	.	rs200032712,COSM4075245	25/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.021)	.	tolerated(0.1)	0,1	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Pro1114Leu,ENST00000443236,;	3373	45	52	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768122	31768122	+	synonymous_variant	Silent	SNP	C	C	T	rs147790864	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	152	0	ENST00000240587.4:c.2577G>A	p.Thr859=	p.T859=	ENST00000240587	NM_020856.2	859	acG/acA	0	T:0.0007	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS12421.2	2577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGACGTGTG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	T:0.001	T:0.0014	ENSP00000240587	T:0.008	2/2	.	.	.	.	.	.	.	.	rs147790864,COSM1392509,COSM1392508	2/2	common_in_exac	ENST00000240587	Transcript	.	T:0.0026	ENSG00000121297	30700	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0.0041	.	0,1,1	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,synonymous_variant,p.%3D,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2905	153	80	SUCCESS
MRPS12	6183	.	GRCh37	19	39421984	39421984	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1482500320	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	111	0	ENST00000308018.4:c.49+1G>A		p.X17_splice	ENST00000308018	NM_033362.3	17		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12525.1	.	MUTECT|MUSE|VARSCANS	.	TTGTGGTAAGT	NONE	.	.	.	.	.	ENSP00000384952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407800	Transcript	.	.	ENSG00000128626	10380	.	.	HIGH	1/1	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RT12_HUMAN	MRPS12	HGNC	.	.	UPI0000135267	SNV	MRPS12,splice_donor_variant,,ENST00000407800,;MRPS12,splice_donor_variant,,ENST00000308018,;MRPS12,splice_donor_variant,,ENST00000402029,;SARS2,intron_variant,,ENST00000448145,;CTC-360G5.8,intron_variant,,ENST00000599996,;SARS2,upstream_gene_variant,,ENST00000600042,;SARS2,upstream_gene_variant,,ENST00000221431,;SARS2,upstream_gene_variant,,ENST00000594171,;SARS2,upstream_gene_variant,,ENST00000430193,;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;MRPS12,non_coding_transcript_exon_variant,,ENST00000598734,;SARS2,upstream_gene_variant,,ENST00000455102,;SARS2,upstream_gene_variant,,ENST00000598343,;SARS2,upstream_gene_variant,,ENST00000598598,;SARS2,upstream_gene_variant,,ENST00000593754,;	.	111	59	SUCCESS
SIGLEC12	89858	.	GRCh37	19	52001391	52001391	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	73	0	ENST00000291707.3:c.1286G>T	p.Gly429Val	p.G429V	ENST00000291707	NM_053003.2	429	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12833.1	1286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCCAAGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,PROSITE_profiles:PS50835	.	.	ENSP00000291707	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000291707	Transcript	.	.	ENSG00000254521	15482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	SIG12_HUMAN	SIGLEC12	HGNC	.	.	UPI0000135992	SNV	SIGLEC12,missense_variant,p.Gly429Val,ENST00000291707,;SIGLEC12,missense_variant,p.Gly311Val,ENST00000598614,;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	1342	73	52	SUCCESS
ZNF432	9668	.	GRCh37	19	52538685	52538685	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749214090	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	55	221	0	ENST00000221315.5:c.247G>A	p.Glu83Lys	p.E83K	ENST00000221315	NM_014650.2	83	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12848.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCGTTGT	NONE	byFrequency	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165	.	.	ENSP00000470488	.	5/5	.	.	.	.	.	.	.	.	rs749214090	5/5	PASS	ENST00000594154	Transcript	.	.	ENSG00000256087	20810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZN432_HUMAN	ZNF432	HGNC	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN	.	UPI0000139CDC	SNV	ZNF432,missense_variant,p.Glu83Lys,ENST00000221315,;ZNF432,missense_variant,p.Glu83Lys,ENST00000598745,;ZNF432,missense_variant,p.Glu83Lys,ENST00000594154,;ZNF432,missense_variant,p.Glu83Lys,ENST00000600368,;ZNF432,downstream_gene_variant,,ENST00000597273,;	460	221	146	SUCCESS
FCAR	2204	.	GRCh37	19	55386823	55386823	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	143	1	ENST00000355524.3:c.70+2T>C		p.X24_splice	ENST00000355524	NM_002000.2	24		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12907.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTAAGTG	NONE	.	.	.	.	.	ENSP00000347714	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355524	Transcript	.	.	ENSG00000186431	3608	.	.	HIGH	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCAR_HUMAN	FCAR	HGNC	A5Y2F0_HUMAN	.	UPI000011B429	SNV	FCAR,splice_donor_variant,,ENST00000345937,;FCAR,splice_donor_variant,,ENST00000355524,;FCAR,splice_donor_variant,,ENST00000469767,;FCAR,splice_donor_variant,,ENST00000391725,;FCAR,intron_variant,,ENST00000353758,;FCAR,intron_variant,,ENST00000391724,;FCAR,intron_variant,,ENST00000359272,;FCAR,intron_variant,,ENST00000391723,;FCAR,intron_variant,,ENST00000391726,;FCAR,splice_donor_variant,,ENST00000482092,;FCAR,splice_donor_variant,,ENST00000471750,;FCAR,intron_variant,,ENST00000472634,;FCAR,intron_variant,,ENST00000488066,;	.	144	88	SUCCESS
FUT3	2525	.	GRCh37	19	5844841	5844841	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	143	0	ENST00000303225.6:c.10C>T	p.Leu4=	p.L4=	ENST00000303225	NM_000149.3	4	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12153.1	10	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGGGGAT	NONE	.	.	.	.	.	ENSP00000305603	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303225	Transcript	1	.	ENSG00000171124	4014	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT3_HUMAN	FUT3	HGNC	K7ES24_HUMAN,K7EQ20_HUMAN,K7ENT3_HUMAN	.	UPI000013E879	SNV	FUT3,synonymous_variant,p.%3D,ENST00000589918,;FUT3,synonymous_variant,p.%3D,ENST00000458379,;FUT3,synonymous_variant,p.%3D,ENST00000303225,;FUT3,synonymous_variant,p.%3D,ENST00000589620,;FUT3,synonymous_variant,p.%3D,ENST00000587048,;FUT3,synonymous_variant,p.%3D,ENST00000585715,;FUT3,synonymous_variant,p.%3D,ENST00000587183,;FUT3,synonymous_variant,p.%3D,ENST00000589714,;AC024592.9,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT3,downstream_gene_variant,,ENST00000593144,;	645	143	82	SUCCESS
ZNF560	147741	.	GRCh37	19	9580387	9580387	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	149	1	ENST00000301480.4:c.449-1G>A		p.X150_splice	ENST00000301480	NM_152476.2	150		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12214.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTAACCTGTAC	NONE	.	.	.	.	.	ENSP00000301480	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301480	Transcript	.	.	ENSG00000198028	26484	.	.	HIGH	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN560_HUMAN	ZNF560	HGNC	.	.	UPI000013E720	SNV	ZNF560,splice_acceptor_variant,,ENST00000301480,;ZNF560,non_coding_transcript_exon_variant,,ENST00000585974,;	.	150	67	SUCCESS
ZBTB7B	51043	.	GRCh37	1	154988092	154988092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	77	0	ENST00000292176.2:c.956G>A	p.Ser319Asn	p.S319N	ENST00000292176		319	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS58030.1	1058	RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAGCTCCC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF129	.	.	ENSP00000406286	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000417934	Transcript	.	.	ENSG00000160685	18668	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.542)	.	tolerated(0.08)	.	ZBT7B_HUMAN	ZBTB7B	HGNC	.	.	UPI0001A5EB6F	SNV	ZBTB7B,missense_variant,p.Ser319Asn,ENST00000535420,;ZBTB7B,missense_variant,p.Ser319Asn,ENST00000368426,;ZBTB7B,missense_variant,p.Ser319Asn,ENST00000292176,;ZBTB7B,missense_variant,p.Ser353Asn,ENST00000417934,;DCST2,downstream_gene_variant,,ENST00000368424,;ZBTB7B,downstream_gene_variant,,ENST00000461530,;ZBTB7B,downstream_gene_variant,,ENST00000483226,;ZBTB7B,downstream_gene_variant,,ENST00000487542,;DCST2,downstream_gene_variant,,ENST00000485982,;DCST2,downstream_gene_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000467991,;	1327	77	73	SUCCESS
ARHGAP30	257106	.	GRCh37	1	161017651	161017651	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs773550831	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	112	0	ENST00000368013.3:c.3160T>A	p.Ser1054Thr	p.S1054T	ENST00000368013	NM_181720.2	1054	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30918.1	3160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGATGGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15729	.	.	ENSP00000356992	.	12/12	.	.	.	.	.	.	.	.	rs773550831	12/12	PASS	ENST00000368013	Transcript	.	.	ENSG00000186517	27414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious_low_confidence(0.02)	.	RHG30_HUMAN	ARHGAP30	HGNC	.	.	UPI0000160677	SNV	ARHGAP30,missense_variant,p.Ser1054Thr,ENST00000368013,;ARHGAP30,missense_variant,p.Ser843Thr,ENST00000368016,;ARHGAP30,missense_variant,p.Ser877Thr,ENST00000368015,;USF1,upstream_gene_variant,,ENST00000435396,;USF1,upstream_gene_variant,,ENST00000531842,;USF1,upstream_gene_variant,,ENST00000368019,;USF1,upstream_gene_variant,,ENST00000368021,;USF1,upstream_gene_variant,,ENST00000534633,;USF1,upstream_gene_variant,,ENST00000368020,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;USF1,upstream_gene_variant,,ENST00000496363,;ARHGAP30,downstream_gene_variant,,ENST00000490279,;USF1,upstream_gene_variant,,ENST00000473969,;USF1,upstream_gene_variant,,ENST00000491629,;USF1,upstream_gene_variant,,ENST00000529476,;	3481	112	70	SUCCESS
CLCNKA	1187	.	GRCh37	1	16356554	16356554	+	synonymous_variant	Silent	SNP	G	G	A	rs779986266	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	102	0	ENST00000331433.4:c.1392G>A	p.Gly464=	p.G464=	ENST00000331433		464	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS167.1	1392	MUTECT|MUSE	.	CCCGGGGGGTA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340,Prints_domain:PR00762	.	.	ENSP00000332771	.	14/20	.	.	.	.	.	.	.	.	rs779986266	14/20	PASS	ENST00000331433	Transcript	.	.	ENSG00000186510	2026	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLCKA_HUMAN	CLCNKA	HGNC	.	.	UPI0000127993	SNV	CLCNKA,synonymous_variant,p.%3D,ENST00000331433,;CLCNKA,synonymous_variant,p.%3D,ENST00000420078,;CLCNKA,synonymous_variant,p.%3D,ENST00000439316,;CLCNKA,synonymous_variant,p.%3D,ENST00000375692,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;	1411	102	71	SUCCESS
OBSCN	84033	.	GRCh37	1	228487124	228487124	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	190	0	ENST00000422127.1:c.11659+4380G>A		p.*3887*	ENST00000422127	NM_001098623.2	4459		0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS59204.1	13375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGTGTGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	50/116	.	.	.	.	.	.	.	.	.	50/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.422)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Val1149Met,ENST00000366707,;OBSCN,missense_variant,p.Val1306Met,ENST00000483539,;OBSCN,missense_variant,p.Val4459Met,ENST00000570156,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000602685,;OBSCN,upstream_gene_variant,,ENST00000602832,;OBSCN,downstream_gene_variant,,ENST00000494839,;	13449	190	75	SUCCESS
TCEB3	0	.	GRCh37	1	24082423	24082423	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	115	0	ENST00000418390.2:c.1960G>C	p.Glu654Gln	p.E654Q	ENST00000418390	NM_003198.2	654	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS239.2	1960	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAGAGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141,Pfam_domain:PF06881	.	.	ENSP00000395574	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000418390	Transcript	.	.	ENSG00000011007	11620	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.867)	.	deleterious(0)	.	ELOA1_HUMAN	TCEB3	HGNC	.	.	UPI000181BA17	SNV	TCEB3,missense_variant,p.Glu654Gln,ENST00000418390,;TCEB3,missense_variant,p.Glu628Gln,ENST00000609199,;RP5-886K2.3,downstream_gene_variant,,ENST00000427796,;TCEB3,downstream_gene_variant,,ENST00000487554,;	2231	115	72	SUCCESS
OR2B11	127623	.	GRCh37	1	247615107	247615107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	111	0	ENST00000318749.6:c.178C>A	p.His60Asn	p.H60N	ENST00000318749	NM_001004492.1	60	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS31090.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGAGTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious(0.03)	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,missense_variant,p.His60Asn,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	202	111	82	SUCCESS
OR2B11	127623	.	GRCh37	1	247615108	247615108	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	111	0	ENST00000318749.6:c.177C>A	p.Leu59=	p.L59=	ENST00000318749	NM_001004492.1	59	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31090.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGAGTTG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,synonymous_variant,p.%3D,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	201	111	82	SUCCESS
SF3A3	10946	.	GRCh37	1	38453345	38453345	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372195588	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	206	0	ENST00000373019.4:c.203G>A	p.Arg68Gln	p.R68Q	ENST00000373019	NM_006802.2	68	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS428.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCGTAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF2	.	T:0.0001	ENSP00000362110	.	4/17	.	.	.	.	.	.	.	.	rs372195588	4/17	PASS	ENST00000373019	Transcript	.	.	ENSG00000183431	10767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SF3A3_HUMAN	SF3A3	HGNC	.	.	UPI0000135469	SNV	SF3A3,missense_variant,p.Arg68Gln,ENST00000373019,;SF3A3,intron_variant,,ENST00000448721,;RNU6-510P,upstream_gene_variant,,ENST00000391239,;SF3A3,non_coding_transcript_exon_variant,,ENST00000462258,;SF3A3,non_coding_transcript_exon_variant,,ENST00000489537,;SF3A3,intron_variant,,ENST00000470585,;SF3A3,intron_variant,,ENST00000461869,;	1159	206	122	SUCCESS
MKNK1	8569	.	GRCh37	1	47028365	47028365	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	66	0	ENST00000371946.4:c.919G>A	p.Ala307Thr	p.A307T	ENST00000371946	NM_003684.5	307	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS538.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGCCCCGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000361014	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000371946	Transcript	.	.	ENSG00000079277	7110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.62)	.	MKNK1_HUMAN	MKNK1	HGNC	E9PSE0_HUMAN,E9PLE7_HUMAN	.	UPI0000073749	SNV	MKNK1,missense_variant,p.Ala266Thr,ENST00000371945,;MKNK1,missense_variant,p.Ala59Thr,ENST00000524749,;MKNK1,missense_variant,p.Ala307Thr,ENST00000371946,;MKNK1,missense_variant,p.Ala171Thr,ENST00000371944,;MKNK1,missense_variant,p.Ala266Thr,ENST00000428112,;MKNK1,missense_variant,p.Ala266Thr,ENST00000341183,;MKNK1-AS1,intron_variant,,ENST00000602433,;MKNK1,non_coding_transcript_exon_variant,,ENST00000470237,;MKNK1,downstream_gene_variant,,ENST00000460098,;MKNK1,3_prime_UTR_variant,,ENST00000528077,;MKNK1,3_prime_UTR_variant,,ENST00000531355,;MKNK1,3_prime_UTR_variant,,ENST00000342571,;MKNK1,non_coding_transcript_exon_variant,,ENST00000532897,;MKNK1,non_coding_transcript_exon_variant,,ENST00000530528,;MKNK1,downstream_gene_variant,,ENST00000524417,;	1083	66	46	SUCCESS
TNFRSF25	8718	.	GRCh37	1	6522204	6522204	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	123	0	ENST00000356876.3:c.775C>T	p.His259Tyr	p.H259Y	ENST00000356876	NM_003790.2	259	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS72.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTGGGCGC	NONE	.	.	Prints_domain:PR01972,hmmpanther:PTHR23097:SF104,hmmpanther:PTHR23097	.	.	ENSP00000367013	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000377782	Transcript	.	.	ENSG00000215788	11910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.15)	.	TNR25_HUMAN	TNFRSF25	HGNC	B3KSV7_HUMAN	.	UPI000002B5CB	SNV	TNFRSF25,missense_variant,p.His259Tyr,ENST00000356876,;TNFRSF25,missense_variant,p.His214Tyr,ENST00000348333,;TNFRSF25,missense_variant,p.His76Tyr,ENST00000351748,;TNFRSF25,missense_variant,p.His222Tyr,ENST00000351959,;TNFRSF25,missense_variant,p.His268Tyr,ENST00000377782,;PLEKHG5,downstream_gene_variant,,ENST00000377725,;PLEKHG5,downstream_gene_variant,,ENST00000400913,;PLEKHG5,downstream_gene_variant,,ENST00000535355,;PLEKHG5,downstream_gene_variant,,ENST00000340850,;PLEKHG5,downstream_gene_variant,,ENST00000400915,;PLEKHG5,downstream_gene_variant,,ENST00000377737,;ESPN,downstream_gene_variant,,ENST00000434576,;ESPN,downstream_gene_variant,,ENST00000416731,;TNFRSF25,downstream_gene_variant,,ENST00000481401,;ESPN,downstream_gene_variant,,ENST00000377828,;PLEKHG5,downstream_gene_variant,,ENST00000377748,;ESPN,downstream_gene_variant,,ENST00000461727,;PLEKHG5,downstream_gene_variant,,ENST00000377740,;PLEKHG5,downstream_gene_variant,,ENST00000377732,;PLEKHG5,downstream_gene_variant,,ENST00000377728,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000475730,;ESPN,downstream_gene_variant,,ENST00000468561,;ESPN,downstream_gene_variant,,ENST00000475228,;TNFRSF25,downstream_gene_variant,,ENST00000461703,;TNFRSF25,missense_variant,p.Pro120Leu,ENST00000502730,;TNFRSF25,3_prime_UTR_variant,,ENST00000485036,;TNFRSF25,3_prime_UTR_variant,,ENST00000480393,;TNFRSF25,3_prime_UTR_variant,,ENST00000502588,;TNFRSF25,3_prime_UTR_variant,,ENST00000414040,;TNFRSF25,3_prime_UTR_variant,,ENST00000510563,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000453260,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000469691,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000513135,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000473343,;TNFRSF25,downstream_gene_variant,,ENST00000515145,;TNFRSF25,downstream_gene_variant,,ENST00000453341,;PLEKHG5,downstream_gene_variant,,ENST00000489097,;PLEKHG5,downstream_gene_variant,,ENST00000487949,;ESPN,downstream_gene_variant,,ENST00000477679,;	870	123	80	SUCCESS
MTF2	22823	.	GRCh37	1	93599749	93599749	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	175	0	ENST00000370298.4:c.1421del	p.Tyr474LeufsTer43	p.Y474Lfs*43	ENST00000370298	NM_007358.3	474	tAt/tt	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS742.1	1421	INDELOCATOR|VARSCANI	.	GGCATTATGGGT	NONE	.	.	hmmpanther:PTHR12628:SF12,hmmpanther:PTHR12628	.	.	ENSP00000359321	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000370298	Transcript	.	.	ENSG00000143033	29535	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTF2_HUMAN	MTF2	HGNC	.	.	UPI0000205B55	deletion	MTF2,frameshift_variant,p.Tyr417LeufsTer43,ENST00000370303,;MTF2,frameshift_variant,p.Tyr372LeufsTer43,ENST00000540243,;MTF2,frameshift_variant,p.Tyr372LeufsTer43,ENST00000545708,;MTF2,frameshift_variant,p.Tyr474LeufsTer43,ENST00000370298,;MTF2,non_coding_transcript_exon_variant,,ENST00000467953,;MTF2,non_coding_transcript_exon_variant,,ENST00000471953,;MTF2,non_coding_transcript_exon_variant,,ENST00000487263,;MTF2,non_coding_transcript_exon_variant,,ENST00000489480,;MTF2,non_coding_transcript_exon_variant,,ENST00000476037,;MTF2,downstream_gene_variant,,ENST00000497976,;	1710	175	115	SUCCESS
SIRPD	128646	.	GRCh37	20	1532400	1532400	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	128	0	ENST00000381623.3:c.358T>C	p.Phe120Leu	p.F120L	ENST00000381623		120	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS13018.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAACTTCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF8,hmmpanther:PTHR19971	.	.	ENSP00000371036	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000381623	Transcript	.	.	ENSG00000125900	16248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated(0.08)	.	SIRPD_HUMAN	SIRPD	HGNC	.	.	UPI000013CBD7	SNV	SIRPD,missense_variant,p.Phe120Leu,ENST00000381621,;SIRPD,missense_variant,p.Phe120Leu,ENST00000381623,;SIRPD,intron_variant,,ENST00000429387,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,downstream_gene_variant,,ENST00000567028,;RP4-576H24.4,downstream_gene_variant,,ENST00000564763,;RP4-576H24.2,non_coding_transcript_exon_variant,,ENST00000453770,;	1548	128	72	SUCCESS
ATP9A	10079	.	GRCh37	20	50346419	50346419	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	128	0	ENST00000338821.5:c.167A>T	p.Asn56Ile	p.N56I	ENST00000338821	NM_006045.1	56	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS33489.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATTCCGA	NONE	.	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000342481	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Asn56Ile,ENST00000338821,;ATP9A,missense_variant,p.Asn56Ile,ENST00000402822,;ATP9A,missense_variant,p.Asn41Ile,ENST00000311637,;ATP9A,non_coding_transcript_exon_variant,,ENST00000477492,;RP5-827A12.2,upstream_gene_variant,,ENST00000400354,;	432	128	65	SUCCESS
C20orf196	0	.	GRCh37	20	5844104	5844104	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1013659039	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	96	0	ENST00000303142.6:c.613C>G	p.Leu205Val	p.L205V	ENST00000303142	NM_152504.2	205	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS13091.1	613	RADIA|MUTECT|VARSCANS	.	AAGACCTGTAA	NONE	.	.	.	.	.	ENSP00000305875	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303142	Transcript	.	.	ENSG00000171984	26318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.899)	.	deleterious_low_confidence(0.04)	.	CT196_HUMAN	C20orf196	HGNC	.	.	UPI0000074251	SNV	C20orf196,missense_variant,p.Leu205Val,ENST00000303142,;C20orf196,downstream_gene_variant,,ENST00000442185,;C20orf196,downstream_gene_variant,,ENST00000445603,;	700	96	52	SUCCESS
PLCB4	5332	.	GRCh37	20	9401994	9401994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	148	0	ENST00000278655.4:c.2169G>T	p.Glu723Asp	p.E723D	ENST00000278655	NM_182797.2	723	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13104.1	2169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAGGTGGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF49562	.	.	ENSP00000367762	.	23/36	.	.	.	.	.	.	.	.	.	23/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Glu723Asp,ENST00000334005,;PLCB4,missense_variant,p.Glu735Asp,ENST00000414679,;PLCB4,missense_variant,p.Glu723Asp,ENST00000278655,;PLCB4,missense_variant,p.Glu735Asp,ENST00000378473,;PLCB4,missense_variant,p.Glu723Asp,ENST00000378493,;PLCB4,missense_variant,p.Glu723Asp,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	2184	148	99	SUCCESS
KCNJ6	3763	.	GRCh37	21	39086700	39086700	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	29	280	0	ENST00000609713.1:c.760C>T	p.Pro254Ser	p.P254S	ENST00000609713	NM_002240.3	254	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS42927.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACGGGATGA	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19,Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000477437	.	3/4	.	.	.	.	.	.	.	.	COSM3550625	3/4	PASS	ENST00000609713	Transcript	.	.	ENSG00000157542	6267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	.	KCNJ6	HGNC	.	.	UPI0000000B10	SNV	KCNJ6,missense_variant,p.Pro254Ser,ENST00000288309,;KCNJ6,missense_variant,p.Pro254Ser,ENST00000609713,;KCNJ6-IT1,downstream_gene_variant,,ENST00000435001,;	1350	280	156	SUCCESS
IGLC1	3537	.	GRCh37	22	23237760	23237760	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367960872	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	57	260	0	ENST00000390321.2:c.207C>A	p.Ser69Arg	p.S69R	ENST00000390321		69	agC/agA	0	A:0	.	.	.	.	A	S/R	protein_coding	YES	CCDS54506.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAGCTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF75,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	A:0.0001	ENSP00000431254	.	3/3	.	.	.	.	.	.	.	.	rs367960872	3/3	PASS	ENST00000526893	Transcript	.	.	ENSG00000254709	38476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious_low_confidence(0)	.	LAC1_HUMAN,IGLL5_HUMAN	IGLL5	HGNC	A0M8Q9_HUMAN	.	UPI0000119C74	SNV	IGLL5,missense_variant,p.Ser178Arg,ENST00000532223,;IGLL5,missense_variant,p.Ser177Arg,ENST00000526893,;IGLL5,3_prime_UTR_variant,,ENST00000531372,;IGLC1,missense_variant,p.Ser69Arg,ENST00000390321,;IGLJ1,downstream_gene_variant,,ENST00000390320,;IGLJ2,upstream_gene_variant,,ENST00000390322,;	805	260	162	SUCCESS
EWSR1	2130	.	GRCh37	22	29694814	29694814	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	66	0	ENST00000397938.2:c.1509G>A	p.Arg503=	p.R503=	ENST00000397938	NM_001163286.1	503	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13852.2	1524	MUTECT|MUSE	.	CCCCGGGGTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238	.	.	ENSP00000400142	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000414183	Transcript	.	.	ENSG00000182944	3508	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EWS_HUMAN	EWSR1	HGNC	.	.	UPI000006DE88	SNV	EWSR1,synonymous_variant,p.%3D,ENST00000406548,;EWSR1,synonymous_variant,p.%3D,ENST00000414183,;EWSR1,synonymous_variant,p.%3D,ENST00000332050,;EWSR1,synonymous_variant,p.%3D,ENST00000397938,;EWSR1,synonymous_variant,p.%3D,ENST00000332035,;EWSR1,synonymous_variant,p.%3D,ENST00000331029,;EWSR1,synonymous_variant,p.%3D,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;	1545	66	58	SUCCESS
NPAS2	4862	.	GRCh37	2	101580593	101580593	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	121	0	ENST00000335681.5:c.672T>C	p.Val224=	p.V224=	ENST00000335681	NM_002518.3	224	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2048.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTTTGCTT	NONE	.	.	hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042	.	.	ENSP00000338283	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	SNV	NPAS2,synonymous_variant,p.%3D,ENST00000335681,;NPAS2,synonymous_variant,p.%3D,ENST00000542504,;NPAS2,intron_variant,,ENST00000448812,;NPAS2,non_coding_transcript_exon_variant,,ENST00000486017,;NPAS2,non_coding_transcript_exon_variant,,ENST00000492373,;	957	121	80	SUCCESS
ARL5A	26225	.	GRCh37	2	152684642	152684642	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	120	0	ENST00000295087.8:c.46+3G>T		p.X16_splice	ENST00000295087	NM_012097.3	16		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2195.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCACCCT	NONE	.	.	.	.	.	ENSP00000295087	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295087	Transcript	.	.	ENSG00000162980	696	.	.	LOW	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARL5A_HUMAN	ARL5A	HGNC	.	.	UPI0000125EE6	SNV	ARL5A,splice_region_variant,,ENST00000295087,;ARL5A,intron_variant,,ENST00000428992,;CACNB4,downstream_gene_variant,,ENST00000360283,;CACNB4,downstream_gene_variant,,ENST00000539935,;ARL5A,splice_region_variant,,ENST00000487723,;ARL5A,intron_variant,,ENST00000446896,;ARL5A,intron_variant,,ENST00000458140,;	.	120	31	SUCCESS
CACNB4	785	.	GRCh37	2	152732958	152732958	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs376364352	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	252	0	ENST00000539935.1:c.503G>C	p.Arg168Thr	p.R168T	ENST00000539935	NM_001145798.1	168	aGa/aCa	0	G:0.0003	.	.	.	.	G	R/T	protein_coding	YES	CCDS46426.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCTTTTT	NONE	byCluster	.	Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR11824:SF7,hmmpanther:PTHR11824	.	G:0	ENSP00000438949	.	5/14	.	.	.	.	.	.	.	.	rs376364352	5/14	PASS	ENST00000539935	Transcript	.	.	ENSG00000182389	1404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.357)	.	tolerated(0.18)	.	CACB4_HUMAN	CACNB4	HGNC	Q9NZA2_HUMAN,Q580I4_HUMAN,Q53S65_HUMAN	.	UPI0000208F1E	SNV	CACNB4,missense_variant,p.Arg134Thr,ENST00000534999,;CACNB4,missense_variant,p.Arg150Thr,ENST00000427385,;CACNB4,missense_variant,p.Arg121Thr,ENST00000397327,;CACNB4,missense_variant,p.Arg134Thr,ENST00000360283,;CACNB4,missense_variant,p.Arg168Thr,ENST00000201943,;CACNB4,missense_variant,p.Arg168Thr,ENST00000539935,;CACNB4,missense_variant,p.Arg163Thr,ENST00000439467,;CACNB4,downstream_gene_variant,,ENST00000434468,;CACNB4,non_coding_transcript_exon_variant,,ENST00000470066,;	571	252	59	SUCCESS
SLC25A12	8604	.	GRCh37	2	172691267	172691267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	105	0	ENST00000422440.2:c.721G>T	p.Gly241Cys	p.G241C	ENST00000422440	NM_003705.4	241	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33327.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCAGCTA	NONE	.	.	Superfamily_domains:SSF47473	.	.	ENSP00000388658	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,missense_variant,p.Gly241Cys,ENST00000422440,;SLC25A12,missense_variant,p.Gly134Cys,ENST00000392592,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,3_prime_UTR_variant,,ENST00000426896,;SLC25A12,upstream_gene_variant,,ENST00000485880,;SLC25A12,downstream_gene_variant,,ENST00000475360,;	759	105	43	SUCCESS
MYT1L	23040	.	GRCh37	2	1946920	1946920	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	401	24	480	0	ENST00000399161.2:c.339C>T	p.Asp113=	p.D113=	ENST00000399161	NM_015025.2	113	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS46222.1	339	MUTECT|MUSE	.	TCATTGTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,synonymous_variant,p.%3D,ENST00000399161,;MYT1L,synonymous_variant,p.%3D,ENST00000428368,;	1009	480	425	SUCCESS
ALS2	57679	.	GRCh37	2	202633600	202633600	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	124	0	ENST00000264276.6:c.9A>C	p.Ser3=	p.S3=	ENST00000264276	NM_020919.3	3	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS42800.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGAGTC	NONE	.	.	.	.	.	ENSP00000264276	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000264276	Transcript	.	.	ENSG00000003393	443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALS2_HUMAN	ALS2	HGNC	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN	.	UPI0000231C77	SNV	ALS2,synonymous_variant,p.%3D,ENST00000467448,;ALS2,synonymous_variant,p.%3D,ENST00000264276,;ALS2,synonymous_variant,p.%3D,ENST00000410052,;ALS2,synonymous_variant,p.%3D,ENST00000409632,;ALS2,non_coding_transcript_exon_variant,,ENST00000462747,;ALS2,non_coding_transcript_exon_variant,,ENST00000496244,;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;ALS2,non_coding_transcript_exon_variant,,ENST00000482789,;	382	124	62	SUCCESS
FARP2	9855	.	GRCh37	2	242343251	242343251	+	synonymous_variant	Silent	SNP	C	C	T	rs766643383	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	177	0	ENST00000264042.3:c.192C>T	p.Cys64=	p.C64=	ENST00000264042	NM_014808.2	64	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS33424.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCGATGG	NONE	byFrequency	.	PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000264042	.	3/27	.	.	.	.	.	.	.	.	rs766643383,COSM275094	3/27	PASS	ENST00000264042	Transcript	.	.	ENSG00000006607	16460	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FARP2_HUMAN	FARP2	HGNC	C9JWM9_HUMAN,C9JVQ5_HUMAN	.	UPI0000073D5B	SNV	FARP2,synonymous_variant,p.%3D,ENST00000445489,;FARP2,synonymous_variant,p.%3D,ENST00000264042,;FARP2,synonymous_variant,p.%3D,ENST00000545004,;FARP2,synonymous_variant,p.%3D,ENST00000418082,;FARP2,synonymous_variant,p.%3D,ENST00000373287,;FARP2,non_coding_transcript_exon_variant,,ENST00000464142,;FARP2,non_coding_transcript_exon_variant,,ENST00000467260,;FARP2,non_coding_transcript_exon_variant,,ENST00000478489,;FARP2,non_coding_transcript_exon_variant,,ENST00000473082,;	362	177	87	SUCCESS
PCBP1	5093	.	GRCh37	2	70315174	70315174	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1422143141	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	47	0	ENST00000303577.5:c.299T>A	p.Leu100Gln	p.L100Q	ENST00000303577	NM_006196.3	100	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1898.1	299	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CACCCTGAGGC	SITE|p.L100Q|c.299T>A|9	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF96,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	COSM287208,COSM195129	1/1	PASS	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.964)	.	deleterious(0.01)	1,1	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	SNV	PCBP1,missense_variant,p.Leu100Gln,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;PCBP1-AS1,intron_variant,,ENST00000596028,;PCBP1-AS1,intron_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;	590	47	21	SUCCESS
CLEC4F	165530	.	GRCh37	2	71043634	71043634	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	16	388	0	ENST00000272367.2:c.879G>C	p.Gln293His	p.Q293H	ENST00000272367	NM_001258027.1	293	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS1910.1	879	MUTECT|MUSE	.	GTGTTCTGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195	.	.	ENSP00000272367	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000272367	Transcript	.	.	ENSG00000152672	25357	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	CLC4F_HUMAN	CLEC4F	HGNC	.	.	UPI0000376BCC	SNV	CLEC4F,missense_variant,p.Gln293His,ENST00000426626,;CLEC4F,missense_variant,p.Gln293His,ENST00000272367,;	956	388	261	SUCCESS
TEX261	113419	.	GRCh37	2	71215838	71215838	+	synonymous_variant	Silent	SNP	G	G	A	rs782334318	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	87	0	ENST00000272438.4:c.483C>T	p.Val161=	p.V161=	ENST00000272438	NM_144582.2	161	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1914.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGACATC	NONE	byFrequency	.	hmmpanther:PTHR13144:SF0,hmmpanther:PTHR13144,Pfam_domain:PF04148	.	.	ENSP00000272438	.	6/6	.	.	.	.	.	.	.	.	rs782334318	6/6	PASS	ENST00000272438	Transcript	.	.	ENSG00000144043	30712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TX261_HUMAN	TEX261	HGNC	B3KQF1_HUMAN,B2RDH4_HUMAN	.	UPI000004C62F	SNV	TEX261,synonymous_variant,p.%3D,ENST00000272438,;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,downstream_gene_variant,,ENST00000457410,;ANKRD53,downstream_gene_variant,,ENST00000272421,;ANKRD53,downstream_gene_variant,,ENST00000441349,;ANKRD53,downstream_gene_variant,,ENST00000360589,;TEX261,non_coding_transcript_exon_variant,,ENST00000466731,;TEX261,3_prime_UTR_variant,,ENST00000433258,;TEX261,non_coding_transcript_exon_variant,,ENST00000478068,;AC007040.11,intron_variant,,ENST00000453130,;TEX261,downstream_gene_variant,,ENST00000489894,;ANKRD53,downstream_gene_variant,,ENST00000460927,;TEX261,downstream_gene_variant,,ENST00000473055,;	671	87	58	SUCCESS
CTNNA2	1496	.	GRCh37	2	80101327	80101327	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	88	0	ENST00000402739.4:c.711A>G	p.Arg237=	p.R237=	ENST00000402739	NM_001282597.1	237	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS42703.2	711	RADIA|MUTECT|VARSCANS	.	ACGAGAGCCAA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,synonymous_variant,p.%3D,ENST00000496558,;CTNNA2,synonymous_variant,p.%3D,ENST00000540488,;CTNNA2,synonymous_variant,p.%3D,ENST00000361291,;CTNNA2,synonymous_variant,p.%3D,ENST00000466387,;CTNNA2,synonymous_variant,p.%3D,ENST00000541047,;CTNNA2,synonymous_variant,p.%3D,ENST00000402739,;	1435	88	44	SUCCESS
TRMT10C	54931	.	GRCh37	3	101283884	101283884	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	175	0	ENST00000309922.6:c.259G>A	p.Asp87Asn	p.D87N	ENST00000309922	NM_017819.3	87	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43122.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAGGATGAA	NONE	.	.	hmmpanther:PTHR13563,hmmpanther:PTHR13563:SF5	.	.	ENSP00000312356	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309922	Transcript	.	.	ENSG00000174173	26022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.02)	.	MRRP1_HUMAN	TRMT10C	HGNC	C9JVB6_HUMAN	.	UPI0000034E2A	SNV	TRMT10C,missense_variant,p.Asp87Asn,ENST00000495642,;TRMT10C,missense_variant,p.Asp87Asn,ENST00000309922,;	413	175	102	SUCCESS
CEP97	79598	.	GRCh37	3	101481359	101481360	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	235	51	475	0	ENST00000341893.3:c.1854dup	p.Phe619IlefsTer34	p.F619Ifs*34	ENST00000341893		616	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS2944.1	1848-1849	VARSCANI*|PINDEL	.	CGTATTAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232	.	.	ENSP00000342510	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000341893	Transcript	.	.	ENSG00000182504	26244	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CEP97_HUMAN	CEP97	HGNC	.	.	UPI0000074569	insertion	CEP97,frameshift_variant,p.Phe560IlefsTer34,ENST00000494050,;CEP97,frameshift_variant,p.Phe619IlefsTer60,ENST00000327230,;CEP97,frameshift_variant,p.Phe619IlefsTer34,ENST00000341893,;CEP97,3_prime_UTR_variant,,ENST00000467655,;CEP97,downstream_gene_variant,,ENST00000489172,;	2600-2601	475	286	SUCCESS
ZBED2	79413	.	GRCh37	3	111313353	111313353	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	62	266	0	ENST00000317012.4:c.-305del		p.*102*	ENST00000317012	NM_024508.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2960.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAAAGGGGTT	NONE	.	.	.	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	deletion	ZBED2,5_prime_UTR_variant,,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	705	266	220	SUCCESS
GTF2E1	2960	.	GRCh37	3	120469757	120469757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	55	143	0	ENST00000283875.5:c.358G>A	p.Asp120Asn	p.D120N	ENST00000283875	NM_005513.2	120	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS3002.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGATTCG	NONE	.	.	hmmpanther:PTHR13097,hmmpanther:PTHR13097:SF6,Pfam_domain:PF02002,Gene3D:3.30.40.10,SMART_domains:SM00531,Superfamily_domains:SSF57783	.	.	ENSP00000283875	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000283875	Transcript	.	.	ENSG00000153767	4650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.11)	.	T2EA_HUMAN	GTF2E1	HGNC	Q53F88_HUMAN,Q05DN6_HUMAN,E9PER7_HUMAN,C9J329_HUMAN,C9IYL4_HUMAN	.	UPI000013DD5F	SNV	GTF2E1,missense_variant,p.Asp120Asn,ENST00000492959,;GTF2E1,missense_variant,p.Asp120Asn,ENST00000283875,;GTF2E1,intron_variant,,ENST00000469772,;GTF2E1,downstream_gene_variant,,ENST00000484715,;GTF2E1,non_coding_transcript_exon_variant,,ENST00000497393,;	451	143	103	SUCCESS
TIMP4	7079	.	GRCh37	3	12195189	12195189	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	71	0	ENST00000287814.4:c.501del	p.Cys168ValfsTer31	p.C168Vfs*31	ENST00000287814	NM_003256.3	167	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS2608.1	501	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTACAGGGTAC	NONE	.	.	hmmpanther:PTHR11844:SF8,hmmpanther:PTHR11844,Pfam_domain:PF00965,Gene3D:2e2dC01,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000287814	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000287814	Transcript	.	.	ENSG00000157150	11823	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIMP4_HUMAN	TIMP4	HGNC	.	.	UPI0000136FA3	deletion	TIMP4,frameshift_variant,p.Cys168ValfsTer31,ENST00000287814,;SYN2,intron_variant,,ENST00000432424,;SYN2,intron_variant,,ENST00000426379,;SYN2,upstream_gene_variant,,ENST00000447752,;SYN2,downstream_gene_variant,,ENST00000424884,;SYN2,intron_variant,,ENST00000439861,;	1012	71	41	SUCCESS
PLXND1	23129	.	GRCh37	3	129275500	129275500	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	153	0	ENST00000324093.4:c.5621T>C	p.Met1874Thr	p.M1874T	ENST00000324093	NM_015103.2	1874	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS33854.1	5621	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCCATGGCC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337	.	.	ENSP00000317128	.	35/36	.	.	.	.	.	.	.	.	.	35/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.574)	.	deleterious(0)	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Met30Thr,ENST00000504689,;PLXND1,missense_variant,p.Met1874Thr,ENST00000324093,;PLXND1,missense_variant,p.Met218Thr,ENST00000506979,;PLXND1,3_prime_UTR_variant,,ENST00000393239,;PLXND1,3_prime_UTR_variant,,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000501038,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504524,;PLXND1,downstream_gene_variant,,ENST00000508630,;PLXND1,downstream_gene_variant,,ENST00000512807,;	5800	153	121	SUCCESS
TRIM71	131405	.	GRCh37	3	32915309	32915309	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	25	261	0	ENST00000383763.5:c.853-1G>A		p.X285_splice	ENST00000383763	NM_001039111.1	285		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43060.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGTGCT	NONE	.	.	.	.	.	ENSP00000373272	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000383763	Transcript	.	.	ENSG00000206557	32669	.	.	HIGH	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIN41_HUMAN	TRIM71	HGNC	.	.	UPI000067CB89	SNV	TRIM71,splice_acceptor_variant,,ENST00000383763,;	.	261	168	SUCCESS
TMEM184C	55751	.	GRCh37	4	148538943	148538943	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	27	0	ENST00000296582.3:c.-165A>C		p.*55*	ENST00000296582	NM_018241.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3770.1	.	RADIA|MUSE	.	GCAGAAGACAC	NONE	.	.	.	.	.	ENSP00000296582	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000296582	Transcript	.	.	ENSG00000164168	25587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T184C_HUMAN	TMEM184C	HGNC	.	.	UPI000013E360	SNV	TMEM184C,5_prime_UTR_variant,,ENST00000508208,;TMEM184C,5_prime_UTR_variant,,ENST00000296582,;RP11-425A23.1,upstream_gene_variant,,ENST00000508072,;	410	27	16	SUCCESS
LETM1	3954	.	GRCh37	4	1823931	1823931	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	91	0	ENST00000302787.2:c.1585G>A	p.Ala529Thr	p.A529T	ENST00000302787	NM_012318.2	529	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3355.1	1585	MUTECT|MUSE	.	CGGGGCAGTGT	NONE	.	.	hmmpanther:PTHR14009,hmmpanther:PTHR14009:SF8	.	.	ENSP00000305653	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000302787	Transcript	1	.	ENSG00000168924	6556	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.653)	.	deleterious(0.05)	.	LETM1_HUMAN	LETM1	HGNC	D3DVQ1_HUMAN	.	UPI0000073989	SNV	LETM1,missense_variant,p.Ala529Thr,ENST00000302787,;LETM1,non_coding_transcript_exon_variant,,ENST00000510940,;LETM1,downstream_gene_variant,,ENST00000511977,;	1882	91	38	SUCCESS
NAAA	27163	.	GRCh37	4	76861223	76861223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	103	0	ENST00000286733.4:c.302G>T	p.Gly101Val	p.G101V	ENST00000286733	NM_014435.3	101	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS43239.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCCGCGG	NONE	.	.	PIRSF_domain:PIRSF017632,Pfam_domain:PF15508	.	.	ENSP00000286733	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000286733	Transcript	.	.	ENSG00000138744	736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	NAAA_HUMAN	NAAA	HGNC	.	.	UPI00001AEAEE	SNV	NAAA,missense_variant,p.Gly101Val,ENST00000507956,;NAAA,missense_variant,p.Gly101Val,ENST00000507187,;NAAA,missense_variant,p.Gly101Val,ENST00000286733,;NAAA,missense_variant,p.Gly101Val,ENST00000399497,;NAAA,5_prime_UTR_variant,,ENST00000505594,;NAAA,upstream_gene_variant,,ENST00000602782,;SDAD1,downstream_gene_variant,,ENST00000502543,;NAAA,non_coding_transcript_exon_variant,,ENST00000507940,;NAAA,non_coding_transcript_exon_variant,,ENST00000503636,;	404	103	54	SUCCESS
FAM47E-STBD1	100631383	.	GRCh37	4	77230589	77230589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	137	0	ENST00000237642.6:c.513G>T	p.Glu171Asp	p.E171D	ENST00000237642	NM_003943.4	171	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3578.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAAGTT	NONE	.	.	hmmpanther:PTHR15048,hmmpanther:PTHR15048:SF0	.	.	ENSP00000237642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000237642	Transcript	.	.	ENSG00000118804	44667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.13)	.	STBD1_HUMAN	FAM47E-STBD1	HGNC	B3KMK8_HUMAN	.	UPI000006DB9D	SNV	FAM47E-STBD1,missense_variant,p.Glu22Asp,ENST00000539752,;FAM47E-STBD1,missense_variant,p.Glu171Asp,ENST00000237642,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514140,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000515604,;CCDC158,downstream_gene_variant,,ENST00000388914,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514365,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;CCDC158,downstream_gene_variant,,ENST00000504667,;	1257	137	100	SUCCESS
ANXA3	306	.	GRCh37	4	79503384	79503384	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	253	0	ENST00000264908.6:c.252G>A	p.Met84Ile	p.M84I	ENST00000264908	NM_005139.2	84	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3584.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGGTGGC	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196,Prints_domain:PR00199	.	.	ENSP00000264908	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,missense_variant,p.Met84Ile,ENST00000514171,;ANXA3,missense_variant,p.Met45Ile,ENST00000503570,;ANXA3,missense_variant,p.Met45Ile,ENST00000512884,;ANXA3,missense_variant,p.Met84Ile,ENST00000264908,;ANXA3,missense_variant,p.Met84Ile,ENST00000512373,;ANXA3,missense_variant,p.Met84Ile,ENST00000508214,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;	631	253	126	SUCCESS
PSD2	84249	.	GRCh37	5	139193051	139193051	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs768287042	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	42	123	0	ENST00000274710.3:c.529G>T	p.Glu177Ter	p.E177*	ENST00000274710	NM_032289.2	177	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4216.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGAGGCC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	.	ENSP00000274710	.	3/15	.	.	.	.	.	.	.	.	rs768287042	3/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,stop_gained,p.Glu177Ter,ENST00000274710,;	734	123	81	SUCCESS
PCDHA11	56138	.	GRCh37	5	140249239	140249239	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	56	0	ENST00000398640.2:c.551C>T	p.Thr184Ile	p.T184I	ENST00000398640	NM_018902.3	184	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS47284.1	551	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACAAATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	COSM322511,COSM322510	1/4	PASS	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.222)	.	tolerated_low_confidence(0.09)	1,1	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,missense_variant,p.Thr184Ile,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	551	56	55	SUCCESS
ADRA1B	147	.	GRCh37	5	159343853	159343853	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	42	0	ENST00000306675.3:c.-60C>T		p.*20*	ENST00000306675	NM_000679.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4347.1	.	SOMATICSNIPER|MUTECT|VARSCANS	.	AGGAGCCTTCG	NONE	.	.	.	.	.	ENSP00000306662	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000306675	Transcript	.	.	ENSG00000170214	278	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA1B_HUMAN	ADRA1B	HGNC	.	.	UPI000003B079	SNV	ADRA1B,5_prime_UTR_variant,,ENST00000306675,;	64	42	30	SUCCESS
TENM2	57451	.	GRCh37	5	166711893	166711893	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	79	0	ENST00000518659.1:c.51C>T	p.Gly17=	p.G17=	ENST00000518659	NM_001122679.1	17	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	.	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCAAAGA	NONE	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Pfam_domain:PF06484	.	.	ENSP00000429430	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,synonymous_variant,p.%3D,ENST00000545108,;TENM2,synonymous_variant,p.%3D,ENST00000518659,;CTB-180C19.1,downstream_gene_variant,,ENST00000521697,;	90	79	59	SUCCESS
GHR	2690	.	GRCh37	5	42713546	42713546	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	379	0	ENST00000230882.4:c.800G>A	p.Trp267Ter	p.W267*	ENST00000230882	NM_001242406.2	267	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS3940.1	800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGGCTCT	NONE	.	.	hmmpanther:PTHR23036:SF74,hmmpanther:PTHR23036,Transmembrane_helices:TMhelix	.	.	ENSP00000230882	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000230882	Transcript	1	.	ENSG00000112964	4263	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GHR_HUMAN	GHR	HGNC	Q9NRZ8_HUMAN,Q9HCW9_HUMAN,F5H7X2_HUMAN	.	UPI000012B416	SNV	GHR,stop_gained,p.Trp267Ter,ENST00000230882,;GHR,stop_gained,p.Trp80Ter,ENST00000537449,;GHR,stop_gained,p.Trp245Ter,ENST00000357703,;GHR,upstream_gene_variant,,ENST00000513625,;GHR,3_prime_UTR_variant,,ENST00000511135,;	990	379	152	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73168941	73168941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	44	155	0	ENST00000426542.2:c.2684C>T	p.Pro895Leu	p.P895L	ENST00000426542		895	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47231.2	2684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCCTGTT	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825,PROSITE_profiles:PS50010	.	.	ENSP00000441913	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,missense_variant,p.Pro895Leu,ENST00000437974,;ARHGEF28,missense_variant,p.Pro582Leu,ENST00000296799,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000513042,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000287898,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000545377,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000426542,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000296794,;	2860	155	139	SUCCESS
SYCP2L	221711	.	GRCh37	6	10894136	10894136	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs529185874	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	255	0	ENST00000283141.6:c.115G>T	p.Gly39Ter	p.G39*	ENST00000283141	NM_001040274.2	39	Gga/Tga	0	.	A:0	.	A:0	.	T	G/*	protein_coding	YES	CCDS43423.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAGGATTT	NONE	by1000G	.	hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607	A:0.001	.	ENSP00000283141	A:0	3/30	.	.	.	.	.	.	.	.	rs529185874	3/30	PASS	ENST00000283141	Transcript	.	A:0.0002	ENSG00000153157	21537	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SYC2L_HUMAN	SYCP2L	HGNC	.	.	UPI000022CA18	SNV	SYCP2L,stop_gained,p.Gly39Ter,ENST00000283141,;SYCP2L,5_prime_UTR_variant,,ENST00000543878,;SYCP2L,stop_gained,p.Gly39Ter,ENST00000341041,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,upstream_gene_variant,,ENST00000487561,;	411	256	151	SUCCESS
HIST1H4K	0	.	GRCh37	6	27799305	27799305	+	start_lost	Translation_Start_Site	SNP	T	T	G	rs756056656	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	178	0	ENST00000357549.2:c.1A>C	p.Met1?	p.M1?	ENST00000357549	NM_003541.2	1	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS4631.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACATGACGA	NONE	byFrequency	.	hmmpanther:PTHR10484	.	.	ENSP00000350159	.	1/1	.	.	.	.	.	.	.	.	rs756056656,COSM3948910	1/1	PASS	ENST00000357549	Transcript	.	.	ENSG00000197914	4784	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	0,1	H4_HUMAN	HIST1H4K	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4K,start_lost,p.Met1?,ENST00000357549,;	1	178	90	SUCCESS
OR2H2	7932	.	GRCh37	6	29556102	29556102	+	synonymous_variant	Silent	SNP	C	C	A	rs1562047505	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	40	165	0	ENST00000383640.2:c.381C>A	p.Pro127=	p.P127=	ENST00000383640	NM_007160.3	127	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34365.1	381	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCTCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000373136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383640	Transcript	.	.	ENSG00000204657	8253	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2H2_HUMAN	OR2H2	HGNC	.	.	UPI00001404DC	SNV	OR2H2,synonymous_variant,p.%3D,ENST00000383640,;GABBR1,intron_variant,,ENST00000355973,;	420	165	109	SUCCESS
FRS3	10817	.	GRCh37	6	41738386	41738386	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	122	0	ENST00000259748.2:c.1450C>G	p.Arg484Gly	p.R484G	ENST00000259748		484	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS4860.1	1450	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGCCGGGTTT	NONE	.	.	hmmpanther:PTHR21258:SF39,hmmpanther:PTHR21258	.	.	ENSP00000362109	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373018	Transcript	.	.	ENSG00000137218	16970	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FRS3_HUMAN	FRS3	HGNC	A6PVU0_HUMAN	.	UPI0000073ACA	SNV	FRS3,missense_variant,p.Arg484Gly,ENST00000259748,;FRS3,missense_variant,p.Arg484Gly,ENST00000373018,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,;	1702	122	75	SUCCESS
DLK2	65989	.	GRCh37	6	43418506	43418506	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754440464	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	112	0	ENST00000357338.3:c.923T>C	p.Val308Ala	p.V308A	ENST00000357338	NM_206539.1	308	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS4897.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACCAAG	NONE	byFrequency	.	hmmpanther:PTHR24838:SF277,hmmpanther:PTHR24838,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000349893	.	6/6	.	.	.	.	.	.	.	.	rs754440464	6/6	PASS	ENST00000357338	Transcript	.	.	ENSG00000171462	21113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.04)	.	DLK2_HUMAN	DLK2	HGNC	Q5T3U0_HUMAN	.	UPI0000051E36	SNV	DLK2,missense_variant,p.Val308Ala,ENST00000372488,;DLK2,missense_variant,p.Val214Ala,ENST00000430324,;DLK2,missense_variant,p.Val302Ala,ENST00000414245,;DLK2,missense_variant,p.Val302Ala,ENST00000372485,;DLK2,missense_variant,p.Val308Ala,ENST00000357338,;ABCC10,downstream_gene_variant,,ENST00000244533,;ABCC10,downstream_gene_variant,,ENST00000372530,;ABCC10,downstream_gene_variant,,ENST00000505344,;ABCC10,downstream_gene_variant,,ENST00000372512,;ABCC10,downstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000463024,;	1624	113	93	SUCCESS
PLA2G7	7941	.	GRCh37	6	46672428	46672428	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	131	365	0	ENST00000274793.7:c.1195C>G	p.His399Asp	p.H399D	ENST00000274793	NM_005084.3	399	Cat/Gat	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS4917.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATGAAGTC	NONE	.	.	hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF9,Gene3D:3.40.50.1820,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169,Superfamily_domains:SSF53474	.	.	ENSP00000274793	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000274793	Transcript	.	.	ENSG00000146070	9040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	PAFA_HUMAN	PLA2G7	HGNC	.	.	UPI000002FED1	SNV	PLA2G7,missense_variant,p.His399Asp,ENST00000537365,;PLA2G7,missense_variant,p.His399Asp,ENST00000274793,;TDRD6,downstream_gene_variant,,ENST00000316081,;PLA2G7,downstream_gene_variant,,ENST00000538237,;TDRD6,downstream_gene_variant,,ENST00000544460,;TDRD6,downstream_gene_variant,,ENST00000450697,;	1392	365	256	SUCCESS
PGK2	5232	.	GRCh37	6	49753721	49753721	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1206634317	.	TCGA-DD-A115-01	TCGA-DD-A115-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	47	141	0	ENST00000304801.3:c.1180A>T	p.Thr394Ser	p.T394S	ENST00000304801	NM_138733.4	394	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4930.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTGCTGA	BUFFER|p.G396G|c.1188C>T|3	.	.	HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1270,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748,Prints_domain:PR00477	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0.01)	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,missense_variant,p.Thr394Ser,ENST00000304801,;	1333	141	99	SUCCESS
TRPV5	56302	.	GRCh37	7	142612521	142612521	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	38	163	1	ENST00000265310.1:c.1242C>T	p.Arg414=	p.R414=	ENST00000265310	NM_019841.4	414	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5875.1	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGCGAGA	NONE	.	.	hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870	.	.	ENSP00000265310	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,synonymous_variant,p.%3D,ENST00000439304,;TRPV5,synonymous_variant,p.%3D,ENST00000265310,;	1591	165	100	SUCCESS
CREB5	9586	.	GRCh37	7	28547332	28547332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	96	0	ENST00000357727.2:c.268C>A	p.Gln90Lys	p.Q90K	ENST00000357727	NM_182898.2	90	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5417.1	268	RADIA|VARSCANS	.	AGGCTCAGGAA	NONE	.	.	hmmpanther:PTHR19304:SF8,hmmpanther:PTHR19304,PIRSF_domain:PIRSF003153	.	.	ENSP00000350359	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000357727	Transcript	.	.	ENSG00000146592	16844	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.84)	.	tolerated(0.51)	.	CREB5_HUMAN	CREB5	HGNC	H9KVC5_HUMAN,C9JN33_HUMAN	.	UPI0000457534	SNV	CREB5,missense_variant,p.Gln83Lys,ENST00000424599,;CREB5,missense_variant,p.Gln57Lys,ENST00000409603,;CREB5,missense_variant,p.Gln90Lys,ENST00000357727,;CREB5,missense_variant,p.Gln57Lys,ENST00000396299,;CREB5,missense_variant,p.Gln83Lys,ENST00000396300,;CREB5,non_coding_transcript_exon_variant,,ENST00000469531,;	658	96	57	SUCCESS
CARD11	84433	.	GRCh37	7	2984169	2984169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	40	0	ENST00000396946.4:c.361G>C	p.Glu121Gln	p.E121Q	ENST00000396946	NM_032415.4	121	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5336.2	361	MUTECT|MUSE	.	TTCCTCCACTG	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Glu121Gln,ENST00000396946,;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,intron_variant,,ENST00000423194,;	765	40	25	SUCCESS
ABCA13	154664	.	GRCh37	7	48311639	48311639	+	synonymous_variant	Silent	SNP	A	A	G	rs758110820	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	143	0	ENST00000435803.1:c.2376A>G	p.Lys792=	p.K792=	ENST00000435803	NM_152701.3	792	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47584.1	2376	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAACTCTT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	rs758110820,COSM3881481,COSM3881480	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	2400	143	72	SUCCESS
YWHAZ	7534	.	GRCh37	8	101960838	101960838	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	9	244	0	ENST00000353245.3:c.280T>A	p.Cys94Ser	p.C94S	ENST00000353245	NM_003406.3	94	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS6290.1	280	MUTECT|MUSE	.	ATTGCAGATAT	NONE	.	.	hmmpanther:PTHR18860:SF5,hmmpanther:PTHR18860,Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,SMART_domains:SM00101,Superfamily_domains:SSF48445,Prints_domain:PR00305	.	.	ENSP00000379287	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000395957	Transcript	.	.	ENSG00000164924	12855	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0.02)	.	1433Z_HUMAN	YWHAZ	HGNC	Q6LD62_HUMAN,Q2F831_HUMAN,H0YB80_HUMAN,E9PD24_HUMAN,E7EVZ2_HUMAN,E7ESK7_HUMAN,E5RIR4_HUMAN,E5RGE1_HUMAN,D0PNI1_HUMAN,B7Z2E6_HUMAN,B0AZS6_HUMAN	.	UPI000003300D	SNV	YWHAZ,missense_variant,p.Cys94Ser,ENST00000419477,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395957,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000521328,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395951,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395958,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000418997,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000521607,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395956,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395953,;YWHAZ,missense_variant,p.Cys17Ser,ENST00000395948,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000457309,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000353245,;YWHAZ,intron_variant,,ENST00000521309,;YWHAZ,downstream_gene_variant,,ENST00000437293,;YWHAZ,downstream_gene_variant,,ENST00000523938,;YWHAZ,downstream_gene_variant,,ENST00000523131,;YWHAZ,upstream_gene_variant,,ENST00000522542,;YWHAZ,downstream_gene_variant,,ENST00000492736,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000518736,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000517727,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000480304,;	622	244	133	SUCCESS
SLC10A5	347051	.	GRCh37	8	82606130	82606130	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	115	0	ENST00000518568.1:c.1078C>T	p.Leu360=	p.L360=	ENST00000518568	NM_001010893.2	360	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34915.1	1078	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGCGTAC	NONE	.	.	hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF29	.	.	ENSP00000428612	.	1/1	.	.	.	.	.	.	.	.	COSM1101998	1/1	PASS	ENST00000518568	Transcript	.	.	ENSG00000253598	22981	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NTCP5_HUMAN	SLC10A5	HGNC	.	.	UPI0000051F68	SNV	SLC10A5,synonymous_variant,p.%3D,ENST00000518568,;	2280	115	40	SUCCESS
SARDH	1757	.	GRCh37	9	136582451	136582451	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763885261	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	52	0	ENST00000371872.4:c.1147C>A	p.Pro383Thr	p.P383T	ENST00000371872	NM_007101.3	383	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6978.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGGCCGC	NONE	.	.	hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000360938	.	8/21	.	.	.	.	.	.	.	.	rs763885261	8/21	PASS	ENST00000371872	Transcript	.	.	ENSG00000123453	10536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	SARDH_HUMAN	SARDH	HGNC	Q5SYV1_HUMAN,B4DPI2_HUMAN	.	UPI000006F076	SNV	SARDH,missense_variant,p.Pro383Thr,ENST00000439388,;SARDH,missense_variant,p.Pro383Thr,ENST00000371872,;SARDH,missense_variant,p.Pro383Thr,ENST00000427237,;SARDH,missense_variant,p.Pro215Thr,ENST00000422262,;SARDH,downstream_gene_variant,,ENST00000371867,;	1405	52	29	SUCCESS
LINGO2	158038	.	GRCh37	9	27949442	27949442	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199551773	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	13	171	0	ENST00000308675.3:c.1228C>A	p.Pro410Thr	p.P410T	ENST00000308675		410	Ccc/Acc	0	A:0	.	.	.	.	T	P/T	protein_coding	YES	CCDS6524.1	1228	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGTTTTT	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	A:0.0002	ENSP00000369328	.	6/6	.	.	.	.	.	.	.	.	rs199551773,COSM245447,COSM245448	6/6	PASS	ENST00000379992	Transcript	.	.	ENSG00000174482	21207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	LIGO2_HUMAN	LINGO2	HGNC	.	.	UPI000004C7CD	SNV	LINGO2,missense_variant,p.Pro410Thr,ENST00000308675,;LINGO2,missense_variant,p.Pro410Thr,ENST00000379992,;RP11-438B23.2,upstream_gene_variant,,ENST00000566293,;	1678	171	91	SUCCESS
DAPK1	1612	.	GRCh37	9	90272970	90272970	+	synonymous_variant	Silent	SNP	G	G	A	rs777677048	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	60	0	ENST00000358077.5:c.1851G>A	p.Ala617=	p.A617=	ENST00000358077	NM_001288731.1	617	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43842.1	1851	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CTTGCGGCCAA	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000386135	.	18/26	.	.	.	.	.	.	.	.	rs777677048	18/26	PASS	ENST00000408954	Transcript	.	.	ENSG00000196730	2674	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	SNV	DAPK1,synonymous_variant,p.%3D,ENST00000358077,;DAPK1,synonymous_variant,p.%3D,ENST00000491893,;DAPK1,synonymous_variant,p.%3D,ENST00000408954,;DAPK1,synonymous_variant,p.%3D,ENST00000469640,;DAPK1,synonymous_variant,p.%3D,ENST00000472284,;DAPK1,non_coding_transcript_exon_variant,,ENST00000466188,;DAPK1,non_coding_transcript_exon_variant,,ENST00000494010,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;	2186	60	13	SUCCESS
NRK	203447	.	GRCh37	X	105152837	105152837	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	98	0	ENST00000243300.9:c.1204C>A	p.Gln402Lys	p.Q402K	ENST00000243300	NM_198465.2	402	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	.	1207	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACAGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF216	.	.	ENSP00000438378	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.104)	.	tolerated(0.08)	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,missense_variant,p.Gln403Lys,ENST00000428173,;NRK,missense_variant,p.Gln402Lys,ENST00000243300,;	1510	99	57	SUCCESS
TAF1	6872	.	GRCh37	X	70680629	70680629	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	57	130	0	ENST00000373790.4:c.5372A>G	p.His1791Arg	p.H1791R	ENST00000373790	NM_004606.3	1791	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14412.1	5435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATGGTT	NONE	.	.	PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	37/38	.	.	.	.	.	.	.	.	.	37/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.21)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.His1791Arg,ENST00000373790,;TAF1,missense_variant,p.His1812Arg,ENST00000276072,;TAF1,missense_variant,p.His1814Arg,ENST00000423759,;TAF1,missense_variant,p.His1825Arg,ENST00000449580,;TAF1,non_coding_transcript_exon_variant,,ENST00000492404,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000461157,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000467309,;TAF1,non_coding_transcript_exon_variant,,ENST00000482544,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,missense_variant,p.His480Arg,ENST00000437147,;TAF1,missense_variant,p.His448Arg,ENST00000373775,;	5445	130	75	SUCCESS
TTC40	0	.	GRCh37	10	134751175	134751175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	26	89	0	ENST00000368586.5:c.541C>A	p.Leu181Ile	p.L181I	ENST00000368586	NM_001200049.2	181	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS58101.1	541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGTTCCC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	6/58	.	.	.	.	.	.	.	.	.	6/58	nonpreferredpair	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Leu181Ile,ENST00000368582,;TTC40,missense_variant,p.Leu181Ile,ENST00000368585,;TTC40,missense_variant,p.Leu181Ile,ENST00000368586,;TTC40,non_coding_transcript_exon_variant,,ENST00000475340,;	642	89	37	SUCCESS
DNAJC1	64215	.	GRCh37	10	22048461	22048461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	47	256	1	ENST00000376980.3:c.1234A>T	p.Thr412Ser	p.T412S	ENST00000376980	NM_022365.3	412	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7136.1	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTGATCA	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF130	.	.	ENSP00000366179	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000376980	Transcript	.	.	ENSG00000136770	20090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.06)	.	DNJC1_HUMAN	DNAJC1	HGNC	Q96NY3_HUMAN	.	UPI0000049FEF	SNV	DNAJC1,missense_variant,p.Thr412Ser,ENST00000376980,;DNAJC1,non_coding_transcript_exon_variant,,ENST00000483085,;	1525	257	142	SUCCESS
ANKRD26	22852	.	GRCh37	10	27352965	27352965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	162	1	ENST00000376087.4:c.1315G>T	p.Gly439Trp	p.G439W	ENST00000376087	NM_014915.2	439	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS41499.1	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCAGCTA	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	12/34	.	.	.	.	.	.	.	.	.	12/34	nonpreferredpair	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Gly439Trp,ENST00000376087,;ANKRD26,missense_variant,p.Gly488Trp,ENST00000436985,;ANKRD26,downstream_gene_variant,,ENST00000473304,;	1481	163	105	SUCCESS
WDFY4	57705	.	GRCh37	10	49939462	49939462	+	synonymous_variant	Silent	SNP	G	G	T	rs372273417	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	63	0	ENST00000325239.5:c.1437G>T	p.Gly479=	p.G479=	ENST00000325239	NM_020945.1	479	ggG/ggT	0	.	A:0	.	A:0.0014	.	T	G	protein_coding	YES	CCDS44385.1	1437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGCCATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	A:0.002	.	ENSP00000320563	A:0	8/61	.	.	.	.	.	.	.	.	rs372273417	8/61	nonpreferredpair	ENST00000325239	Transcript	.	A:0.0006	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000413659,;WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000360890,;	1464	63	34	SUCCESS
STOX1	219736	.	GRCh37	10	70652470	70652470	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	69	224	0	ENST00000298596.6:c.2948T>C	p.Leu983Pro	p.L983P	ENST00000298596	NM_152709.4	983	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS41535.1	2948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCTAACTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1	.	.	ENSP00000298596	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000298596	Transcript	1	.	ENSG00000165730	23508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	STOX1_HUMAN	STOX1	HGNC	C9JRL1_HUMAN	.	UPI00004B59B0	SNV	STOX1,missense_variant,p.Leu983Pro,ENST00000298596,;STOX1,missense_variant,p.Leu873Pro,ENST00000421961,;STOX1,missense_variant,p.Leu983Pro,ENST00000399169,;STOX1,3_prime_UTR_variant,,ENST00000399162,;STOX1,3_prime_UTR_variant,,ENST00000399165,;	3031	224	164	SUCCESS
ZNF503-AS2	100131213	.	GRCh37	10	77167385	77167385	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	106	0	ENST00000425916.3:n.671C>A		p.*224*	ENST00000425916				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	GAACCCCCAGA	NONE	.	1530	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000609200	Transcript	.	.	ENSG00000272692	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-399K21.14	Clone_based_vega_gene	.	.	.	SNV	RP11-399K21.14,upstream_gene_variant,,ENST00000609200,;RP11-399K21.13,downstream_gene_variant,,ENST00000609182,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000466942,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000425916,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000486015,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000527641,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000484411,;ZNF503-AS2,non_coding_transcript_exon_variant,,ENST00000491557,;	.	106	48	SUCCESS
ATM	472	.	GRCh37	11	108172499	108172499	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	15	133	1	ENST00000278616.4:c.5302A>G	p.Arg1768Gly	p.R1768G	ENST00000278616	NM_000051.3	1768	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS31669.1	5302	MUTECT|MUSE|VARSCANS	.	CTTTTAGAACA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	35/63	.	.	.	.	.	.	.	.	.	35/63	nonpreferredpair	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.339)	.	deleterious(0)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Arg1768Gly,ENST00000278616,;ATM,missense_variant,p.Arg1768Gly,ENST00000452508,;ATM,non_coding_transcript_exon_variant,,ENST00000534625,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000529588,;	5687	134	103	SUCCESS
SLC17A6	57084	.	GRCh37	11	22360043	22360043	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	117	1	ENST00000263160.3:c.-37T>C		p.*13*	ENST00000263160	NM_020346.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7856.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATTTAAAT	NONE	.	.	.	.	.	ENSP00000263160	.	1/12	.	.	.	.	.	.	.	.	.	1/12	nonpreferredpair	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,5_prime_UTR_variant,,ENST00000263160,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	401	118	66	SUCCESS
OR51E2	81285	.	GRCh37	11	4703712	4703712	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	75	0	ENST00000396950.3:c.230T>A	p.Met77Lys	p.M77K	ENST00000396950	NM_030774.3	77	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS7751.1	230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCATGGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF99,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000380153	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000396950	Transcript	.	.	ENSG00000167332	15195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	deleterious(0)	.	O51E2_HUMAN	OR51E2	HGNC	E9PPJ8_HUMAN	.	UPI000003B49B	SNV	OR51E2,missense_variant,p.Met77Lys,ENST00000532598,;OR51E2,missense_variant,p.Met77Lys,ENST00000396950,;	470	75	32	SUCCESS
DPP3	10072	.	GRCh37	11	66249912	66249912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	33	0	ENST00000541961.1:c.241G>T	p.Ala81Ser	p.A81S	ENST00000541961		81	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8141.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGCTGAA	NONE	.	.	hmmpanther:PTHR23422,hmmpanther:PTHR23422:SF10,PIRSF_domain:PIRSF007828	.	.	ENSP00000353701	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000360510	Transcript	.	.	ENSG00000254986	3008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	DPP3_HUMAN	DPP3	HGNC	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN	.	UPI000012983B	SNV	DPP3,missense_variant,p.Ala81Ser,ENST00000360510,;DPP3,missense_variant,p.Ala81Ser,ENST00000530165,;DPP3,missense_variant,p.Ala100Ser,ENST00000532677,;DPP3,missense_variant,p.Ala81Ser,ENST00000526515,;DPP3,missense_variant,p.Ala81Ser,ENST00000531354,;DPP3,missense_variant,p.Ala81Ser,ENST00000453114,;DPP3,missense_variant,p.Ala81Ser,ENST00000541961,;DPP3,missense_variant,p.Ala101Ser,ENST00000531863,;DPP3,missense_variant,p.Ala81Ser,ENST00000531314,;DPP3,5_prime_UTR_variant,,ENST00000532019,;DPP3,intron_variant,,ENST00000533725,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527092,;CTD-3074O7.5,upstream_gene_variant,,ENST00000533502,;CTD-3074O7.5,upstream_gene_variant,,ENST00000525142,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527274,;DPP3,non_coding_transcript_exon_variant,,ENST00000544603,;DPP3,non_coding_transcript_exon_variant,,ENST00000531272,;	306	33	42	SUCCESS
MYO7A	4647	.	GRCh37	11	76858899	76858899	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	65	0	ENST00000409709.3:c.188C>G	p.Ser63Trp	p.S63W	ENST00000409709	NM_000260.3	63	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS53683.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCGGTCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386331	.	4/49	.	.	.	.	.	.	.	.	.	4/49	nonpreferredpair	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Ser63Trp,ENST00000409893,;MYO7A,missense_variant,p.Ser52Trp,ENST00000409619,;MYO7A,missense_variant,p.Ser63Trp,ENST00000409709,;MYO7A,missense_variant,p.Ser63Trp,ENST00000458637,;	460	65	46	SUCCESS
GCN1L1	0	.	GRCh37	12	120602144	120602144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	106	1	ENST00000300648.6:c.1844A>G	p.His615Arg	p.H615R	ENST00000300648	NM_006836.1	615	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS41847.1	1844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGTGAGAA	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF12074,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	18/58	.	.	.	.	.	.	.	.	.	18/58	nonpreferredpair	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.416)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.His615Arg,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000550471,;GCN1L1,downstream_gene_variant,,ENST00000551549,;GCN1L1,upstream_gene_variant,,ENST00000547369,;	1857	107	71	SUCCESS
RNF10	9921	.	GRCh37	12	121013648	121013648	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	135	0	ENST00000325954.4:c.2254A>T	p.Asn752Tyr	p.N752Y	ENST00000325954	NM_014868.4	752	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS9201.1	2254	RADIA|MUTECT|MUSE|VARSCANS	.	GTGATAATTCA	NONE	.	.	hmmpanther:PTHR12983	.	.	ENSP00000322242	.	16/17	.	.	.	.	.	.	.	.	.	16/17	nonpreferredpair	ENST00000325954	Transcript	.	.	ENSG00000022840	10055	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.781)	.	tolerated(0.08)	.	RNF10_HUMAN	RNF10	HGNC	F5H3A4_HUMAN	.	UPI000006D77E	SNV	RNF10,missense_variant,p.Asn87Tyr,ENST00000538254,;RNF10,missense_variant,p.Asn757Tyr,ENST00000413266,;RNF10,missense_variant,p.Asn752Tyr,ENST00000325954,;POP5,downstream_gene_variant,,ENST00000341039,;POP5,downstream_gene_variant,,ENST00000357500,;RNF10,non_coding_transcript_exon_variant,,ENST00000543757,;RNF10,non_coding_transcript_exon_variant,,ENST00000542701,;RNF10,non_coding_transcript_exon_variant,,ENST00000535470,;POP5,downstream_gene_variant,,ENST00000543355,;POP5,downstream_gene_variant,,ENST00000542776,;RNF10,3_prime_UTR_variant,,ENST00000545419,;RNF10,non_coding_transcript_exon_variant,,ENST00000544805,;POP5,downstream_gene_variant,,ENST00000511394,;POP5,downstream_gene_variant,,ENST00000541834,;POP5,downstream_gene_variant,,ENST00000539716,;POP5,downstream_gene_variant,,ENST00000535245,;RNF10,downstream_gene_variant,,ENST00000366112,;POP5,downstream_gene_variant,,ENST00000542568,;	2715	135	97	SUCCESS
MLXIP	22877	.	GRCh37	12	122623457	122623457	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs968950565	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	10	340	0	ENST00000319080.7:c.2480G>A	p.Arg827Gln	p.R827Q	ENST00000319080	NM_014938.4_dupl16	827	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	2480	MUTECT|MUSE	.	AACCCGGACCT	NONE	.	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	.	.	ENSP00000312834	.	15/17	.	.	.	.	.	.	.	.	.	15/17	nonpreferredpair	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.421)	.	tolerated(0.25)	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,missense_variant,p.Arg298Gln,ENST00000366272,;MLXIP,missense_variant,p.Arg434Gln,ENST00000538698,;MLXIP,missense_variant,p.Arg827Gln,ENST00000319080,;MLXIP,intron_variant,,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000377037,;MLXIP,downstream_gene_variant,,ENST00000535996,;MLXIP,downstream_gene_variant,,ENST00000539861,;MLXIP,downstream_gene_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000538061,;	2612	340	177	SUCCESS
GPR84	53831	.	GRCh37	12	54757477	54757477	+	synonymous_variant	Silent	SNP	G	G	A	rs143236488	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	150	0	ENST00000267015.3:c.159C>T	p.Thr53=	p.T53=	ENST00000267015	NM_020370.2	53	acC/acT	0	.	A:0.0008	.	A:0	.	A	T	protein_coding	YES	CCDS8878.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCGGGTACG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF59,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	.	ENSP00000450310	A:0	1/1	.	.	.	.	.	.	.	.	rs143236488	1/1	nonpreferredpair	ENST00000551809	Transcript	.	A:0.0002	ENSG00000139572	4535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,synonymous_variant,p.%3D,ENST00000551809,;GPR84,synonymous_variant,p.%3D,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	795	150	126	SUCCESS
CNPY2	10330	.	GRCh37	12	56708752	56708752	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	127	0	ENST00000273308.4:c.89-2A>G		p.X30_splice	ENST00000273308	NM_014255.5	30		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8914.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGGTGG	NONE	.	.	.	.	.	ENSP00000273308	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000273308	Transcript	.	.	ENSG00000257727	13529	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPY2_HUMAN	CNPY2	HGNC	H0YI18_HUMAN,F8W1K5_HUMAN,F8VXJ7_HUMAN	.	UPI000004C630	SNV	CNPY2,splice_acceptor_variant,,ENST00000551475,;CNPY2,splice_acceptor_variant,,ENST00000551286,;RP11-977G19.10,splice_acceptor_variant,,ENST00000549318,;RP11-977G19.10,splice_acceptor_variant,,ENST00000548360,;RP11-977G19.10,splice_acceptor_variant,,ENST00000547423,;CNPY2,splice_acceptor_variant,,ENST00000273308,;PAN2,downstream_gene_variant,,ENST00000425394,;PAN2,downstream_gene_variant,,ENST00000257931,;PAN2,downstream_gene_variant,,ENST00000440411,;PAN2,downstream_gene_variant,,ENST00000548043,;RP11-977G19.11,downstream_gene_variant,,ENST00000549860,;RP11-977G19.11,downstream_gene_variant,,ENST00000549565,;CNPY2,splice_acceptor_variant,,ENST00000551720,;CNPY2,splice_acceptor_variant,,ENST00000551276,;PAN2,downstream_gene_variant,,ENST00000549090,;CNPY2,splice_acceptor_variant,,ENST00000547570,;CNPY2,splice_acceptor_variant,,ENST00000548013,;CNPY2,splice_acceptor_variant,,ENST00000553164,;CNPY2,coding_sequence_variant,p.%3D,ENST00000553191,;CNPY2,non_coding_transcript_exon_variant,,ENST00000546388,;PAN2,downstream_gene_variant,,ENST00000547226,;PAN2,downstream_gene_variant,,ENST00000552630,;CNPY2,upstream_gene_variant,,ENST00000546937,;PAN2,downstream_gene_variant,,ENST00000550028,;PAN2,downstream_gene_variant,,ENST00000551359,;PAN2,downstream_gene_variant,,ENST00000553230,;PAN2,downstream_gene_variant,,ENST00000547100,;CNPY2,upstream_gene_variant,,ENST00000546466,;	.	127	76	SUCCESS
PTPRB	5787	.	GRCh37	12	70960239	70960239	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374292920	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	131	507	0	ENST00000261266.5:c.3226G>C	p.Glu1076Gln	p.E1076Q	ENST00000261266	NM_002837.4	1076	Gaa/Caa	0	T:0	.	.	.	.	G	E/Q	protein_coding	YES	CCDS44943.1	3880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCCTTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	T:0.0002	ENSP00000334928	.	15/34	.	.	.	.	.	.	.	.	rs374292920	15/34	nonpreferredpair	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.32)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Glu1206Gln,ENST00000550358,;PTPRB,missense_variant,p.Glu1293Gln,ENST00000551525,;PTPRB,missense_variant,p.Glu1076Gln,ENST00000261266,;PTPRB,missense_variant,p.Glu986Gln,ENST00000451516,;PTPRB,missense_variant,p.Glu1173Gln,ENST00000548122,;PTPRB,missense_variant,p.Glu986Gln,ENST00000550857,;PTPRB,missense_variant,p.Glu1294Gln,ENST00000334414,;PTPRB,intron_variant,,ENST00000538708,;	3925	507	319	SUCCESS
SLC2A3	6515	.	GRCh37	12	8086448	8086448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	44	166	0	ENST00000075120.7:c.66C>A	p.Phe22Leu	p.F22L	ENST00000075120	NM_006931.2	22	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS8586.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGAAAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Superfamily_domains:SSF103473,Prints_domain:PR00171	.	.	ENSP00000075120	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000075120	Transcript	.	.	ENSG00000059804	11007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.81)	.	GTR3_HUMAN	SLC2A3	HGNC	.	.	UPI0000001C7D	SNV	SLC2A3,missense_variant,p.Phe22Leu,ENST00000075120,;SLC2A3,intron_variant,,ENST00000544291,;SLC2A3,missense_variant,p.Phe22Leu,ENST00000544936,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000476634,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000541671,;SLC2A3,upstream_gene_variant,,ENST00000479059,;SLC2A3,upstream_gene_variant,,ENST00000490763,;	307	166	124	SUCCESS
CCDC168	643677	.	GRCh37	13	103381888	103381888	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	173	1	ENST00000322527.2:c.7272G>A	p.Lys2424=	p.K2424=	ENST00000322527	NM_001146197.1	2424	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	.	7272	MUTECT|MUSE	.	GAAATCTTTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,synonymous_variant,p.%3D,ENST00000322527,;	7272	175	104	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102466376	102466376	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	101	0	ENST00000360184.4:c.3855G>A	p.Gly1285=	p.G1285=	ENST00000360184	NM_001376.4	1285	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9966.1	3855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGAAGTT	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	17/78	.	.	.	.	.	.	.	.	.	17/78	nonpreferredpair	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;	4019	101	60	SUCCESS
AHNAK2	113146	.	GRCh37	14	105416248	105416248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	31	358	0	ENST00000333244.5:c.5540A>G	p.Asp1847Gly	p.D1847G	ENST00000333244	NM_138420.2	1847	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS45177.1	5540	RADIA|MUTECT|MUSE|VARSCANS	.	ACACATCCACC	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Asp1847Gly,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	5660	358	141	SUCCESS
RP11-468E2.9	0	.	GRCh37	14	24517998	24517998	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs759806033	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	286	162	732	1	ENST00000606840.1:n.653T>C		p.*218*	ENST00000606840				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32054.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATCAAGA	NONE	byFrequency	3211	.	.	.	ENSP00000340467	.	.	.	.	.	.	.	.	.	.	rs759806033	.	nonpreferredpair	ENST00000342740	Transcript	.	.	ENSG00000186648	20272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16B_HUMAN	LRRC16B	HGNC	.	.	UPI0000DBEF11	SNV	LRRC16B,upstream_gene_variant,,ENST00000342740,;LRRC16B,upstream_gene_variant,,ENST00000334420,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000558293,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000559270,;RP11-468E2.9,intron_variant,,ENST00000558622,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000606840,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000397065,;	.	733	449	SUCCESS
PRKXP1	441733	.	GRCh37	15	101098944	101098944	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	71	0	ENST00000561423.2:n.216G>T		p.*72*	ENST00000561423				0	.	.	.	.	.	A	.	snRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	AAATGCTTGGC	NONE	.	1947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000363225	Transcript	.	.	ENSG00000200095	47144	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RNU6-181P	HGNC	.	.	.	SNV	RNU6-181P,downstream_gene_variant,,ENST00000363225,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000559349,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000557839,;LINS,downstream_gene_variant,,ENST00000560783,;PRKXP1,non_coding_transcript_exon_variant,,ENST00000561423,;	.	71	16	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40268641	40268641	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	102	0	ENST00000263791.5:c.1845C>T	p.Cys615=	p.C615=	ENST00000263791	NM_001013703.2	615	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS42016.1	1845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTACGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000660,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263791	.	12/39	.	.	.	.	.	.	.	.	.	12/39	nonpreferredpair	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,synonymous_variant,p.%3D,ENST00000560855,;EIF2AK4,synonymous_variant,p.%3D,ENST00000382727,;EIF2AK4,synonymous_variant,p.%3D,ENST00000263791,;EIF2AK4,downstream_gene_variant,,ENST00000559624,;	1888	102	44	SUCCESS
TYRO3	7301	.	GRCh37	15	41860523	41860523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	131	0	ENST00000263798.3:c.1070C>A	p.Pro357His	p.P357H	ENST00000263798	NM_006293.3	357	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS10080.1	1070	RADIA|MUTECT	.	GGGACCCTACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000263798	.	8/19	.	.	.	.	.	.	.	.	.	8/19	nonpreferredpair	ENST00000263798	Transcript	.	.	ENSG00000092445	12446	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	TYRO3_HUMAN	TYRO3	HGNC	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN	.	UPI000013788A	SNV	TYRO3,missense_variant,p.Pro357His,ENST00000263798,;TYRO3,missense_variant,p.Pro312His,ENST00000559066,;TYRO3,upstream_gene_variant,,ENST00000568343,;TYRO3,missense_variant,p.Pro90His,ENST00000559815,;TYRO3,downstream_gene_variant,,ENST00000560227,;TYRO3,upstream_gene_variant,,ENST00000559851,;TYRO3,upstream_gene_variant,,ENST00000560162,;	1294	131	56	SUCCESS
HERC1	8925	.	GRCh37	15	63991120	63991120	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748628494	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	13	134	0	ENST00000443617.2:c.4712A>G	p.Asn1571Ser	p.N1571S	ENST00000443617	NM_003922.3	1571	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45277.1	4712	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTTGCAT	NONE	byFrequency	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	26/78	.	.	.	.	.	.	.	.	rs748628494	26/78	nonpreferredpair	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Asn1571Ser,ENST00000443617,;HERC1,missense_variant,p.Asn555Ser,ENST00000561400,;RP11-317G6.1,intron_variant,,ENST00000559303,;	4800	134	81	SUCCESS
GLCE	26035	.	GRCh37	15	69548133	69548133	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	186	0	ENST00000261858.2:c.-13G>T		p.X5_splice	ENST00000261858	NM_015554.1	5		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32277.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGTATGG	NONE	.	.	.	.	.	ENSP00000261858	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000261858	Transcript	.	.	ENSG00000138604	17855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLCE_HUMAN	GLCE	HGNC	H0YNP1_HUMAN	.	UPI00001D7785	SNV	GLCE,splice_region_variant,,ENST00000261858,;GLCE,5_prime_UTR_variant,,ENST00000559420,;RN7SL438P,upstream_gene_variant,,ENST00000494456,;GLCE,upstream_gene_variant,,ENST00000559500,;	216	186	84	SUCCESS
SCAPER	49855	.	GRCh37	15	77134131	77134131	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	79	236	1	ENST00000324767.7:c.337G>A	p.Ala113Thr	p.A113T	ENST00000324767	NM_020843.2	113	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS53962.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGCTCGGC	NONE	.	.	hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2	.	.	ENSP00000454973	.	5/32	.	.	.	.	.	.	.	.	.	5/32	nonpreferredpair	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Ala113Thr,ENST00000324767,;SCAPER,missense_variant,p.Ala113Thr,ENST00000563290,;SCAPER,missense_variant,p.Ala113Thr,ENST00000564590,;SCAPER,missense_variant,p.Ala113Thr,ENST00000565970,;SCAPER,5_prime_UTR_variant,,ENST00000538941,;SCAPER,5_prime_UTR_variant,,ENST00000564177,;SCAPER,intron_variant,,ENST00000565372,;SCAPER,intron_variant,,ENST00000568382,;SCAPER,downstream_gene_variant,,ENST00000563919,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	433	237	138	SUCCESS
ABCC6	368	.	GRCh37	16	16244451	16244451	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759407080	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	108	0	ENST00000205557.7:c.4387G>T	p.Val1463Leu	p.V1463L	ENST00000205557	NM_001171.5	1463	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS10568.1	4387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACGGAGC	NONE	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00957,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	.	.	ENSP00000205557	.	30/31	.	.	.	.	.	.	.	.	rs759407080	30/31	nonpreferredpair	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	tolerated(0.1)	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,missense_variant,p.Val1463Leu,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;ABCC6,non_coding_transcript_exon_variant,,ENST00000576204,;	4417	108	52	SUCCESS
GTF3C1	2975	.	GRCh37	16	27517278	27517278	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs140459536	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	37	149	0	ENST00000356183.4:c.1712C>A	p.Ala571Glu	p.A571E	ENST00000356183	NM_001520.3	571	gCg/gAg	0	A:0.0002	.	.	.	.	T	A/E	protein_coding	YES	CCDS32414.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGCACAG	NONE	byCluster	.	hmmpanther:PTHR15180	.	A:0.0001	ENSP00000348510	.	10/37	.	.	.	.	.	.	.	.	rs140459536	10/37	nonpreferredpair	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,missense_variant,p.Ala571Glu,ENST00000561623,;GTF3C1,missense_variant,p.Ala571Glu,ENST00000356183,;GTF3C1,upstream_gene_variant,,ENST00000569653,;	1728	149	93	SUCCESS
HYDIN	54768	.	GRCh37	16	70891690	70891690	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	31	187	0	ENST00000393567.2:c.12213C>A	p.Val4071=	p.V4071=	ENST00000393567	NM_001270974.1	4071	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS59269.1	12213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGACTGT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	72/86	.	.	.	.	.	.	.	.	.	72/86	nonpreferredpair	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;RNU6ATAC25P,downstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;HYDIN,3_prime_UTR_variant,,ENST00000546257,;	12364	187	96	SUCCESS
AP1G1	164	.	GRCh37	16	71823203	71823203	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	46	137	0	ENST00000299980.4:c.180C>T	p.Gly60=	p.G60=	ENST00000299980	NM_001128.5	60	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45522.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTAGCCCAG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	2/24	.	.	.	.	.	.	.	.	.	2/24	nonpreferredpair	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,synonymous_variant,p.%3D,ENST00000569748,;AP1G1,synonymous_variant,p.%3D,ENST00000569185,;AP1G1,synonymous_variant,p.%3D,ENST00000567583,;AP1G1,synonymous_variant,p.%3D,ENST00000433195,;AP1G1,synonymous_variant,p.%3D,ENST00000563104,;AP1G1,synonymous_variant,p.%3D,ENST00000563259,;AP1G1,synonymous_variant,p.%3D,ENST00000565412,;AP1G1,synonymous_variant,p.%3D,ENST00000393512,;AP1G1,synonymous_variant,p.%3D,ENST00000299980,;AP1G1,synonymous_variant,p.%3D,ENST00000423132,;AP1G1,downstream_gene_variant,,ENST00000570017,;AP1G1,downstream_gene_variant,,ENST00000569975,;AP1G1,downstream_gene_variant,,ENST00000570297,;AP1G1,synonymous_variant,p.%3D,ENST00000568327,;AP1G1,synonymous_variant,p.%3D,ENST00000565009,;AP1G1,synonymous_variant,p.%3D,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000566161,;	622	137	99	SUCCESS
AP1G1	164	.	GRCh37	16	71823204	71823204	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	138	0	ENST00000299980.4:c.179G>T	p.Gly60Val	p.G60V	ENST00000299980	NM_001128.5	60	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45522.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCCCAGC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	2/24	.	.	.	.	.	.	.	.	.	2/24	nonpreferredpair	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,missense_variant,p.Gly60Val,ENST00000569748,;AP1G1,missense_variant,p.Gly60Val,ENST00000569185,;AP1G1,missense_variant,p.Gly60Val,ENST00000567583,;AP1G1,missense_variant,p.Gly83Val,ENST00000433195,;AP1G1,missense_variant,p.Gly60Val,ENST00000563104,;AP1G1,missense_variant,p.Gly60Val,ENST00000563259,;AP1G1,missense_variant,p.Gly60Val,ENST00000565412,;AP1G1,missense_variant,p.Gly60Val,ENST00000393512,;AP1G1,missense_variant,p.Gly60Val,ENST00000299980,;AP1G1,missense_variant,p.Gly60Val,ENST00000423132,;AP1G1,downstream_gene_variant,,ENST00000570017,;AP1G1,downstream_gene_variant,,ENST00000569975,;AP1G1,downstream_gene_variant,,ENST00000570297,;AP1G1,missense_variant,p.Gly60Val,ENST00000568327,;AP1G1,missense_variant,p.Gly60Val,ENST00000565009,;AP1G1,missense_variant,p.Gly60Val,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000566161,;	621	139	99	SUCCESS
TBC1D26	353149	.	GRCh37	17	15642100	15642100	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	rs752787510	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	74	465	0	ENST00000469477.2:c.453C>T	p.His151=	p.H151=	ENST00000469477		151	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS42265.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACACCCT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF242,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000410111	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000437605	Transcript	.	.	ENSG00000214946	28745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC26_HUMAN	TBC1D26	HGNC	J3QQK9_HUMAN,J3QLL4_HUMAN	.	UPI0000246DD7	SNV	TBC1D26,synonymous_variant,p.%3D,ENST00000437605,;TBC1D26,synonymous_variant,p.%3D,ENST00000579428,;TBC1D26,downstream_gene_variant,,ENST00000584301,;ZNF286A,downstream_gene_variant,,ENST00000593105,;TBC1D26,downstream_gene_variant,,ENST00000580596,;TBC1D26,downstream_gene_variant,,ENST00000464963,;TBC1D26,downstream_gene_variant,,ENST00000578506,;AC005324.6,non_coding_transcript_exon_variant,,ENST00000433873,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,downstream_gene_variant,,ENST00000580194,;ZNF286A,downstream_gene_variant,,ENST00000583675,;TBC1D26,downstream_gene_variant,,ENST00000583620,;TBC1D26,downstream_gene_variant,,ENST00000582140,;ZNF286A,downstream_gene_variant,,ENST00000585171,;TBC1D26,downstream_gene_variant,,ENST00000582534,;TBC1D26,synonymous_variant,p.%3D,ENST00000469477,;ZNF286A,3_prime_UTR_variant,,ENST00000413242,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000580970,;ZNF286A,downstream_gene_variant,,ENST00000412988,;	703	465	159	SUCCESS
MPO	4353	.	GRCh37	17	56355395	56355395	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	57	0	ENST00000225275.3:c.997C>T	p.Leu333Phe	p.L333F	ENST00000225275	NM_000250.1	333	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11604.1	997	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGAGCGCGT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000225275	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,missense_variant,p.Leu365Phe,ENST00000340482,;MPO,missense_variant,p.Leu333Phe,ENST00000225275,;MPO,upstream_gene_variant,,ENST00000577220,;MPO,non_coding_transcript_exon_variant,,ENST00000578493,;MPO,downstream_gene_variant,,ENST00000580005,;MPO,downstream_gene_variant,,ENST00000581022,;	1174	57	47	SUCCESS
RPS6KB1	6198	.	GRCh37	17	58013587	58013587	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	136	243	0	ENST00000225577.4:c.990A>T	p.Arg330Ser	p.R330S	ENST00000225577	NM_001272044.1	330	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11621.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAAATGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF48,hmmpanther:PTHR24351,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000225577	.	11/15	.	.	.	.	.	.	.	.	COSM3958606	11/15	nonpreferredpair	ENST00000225577	Transcript	.	.	ENSG00000108443	10436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.96)	.	deleterious(0)	1	KS6B1_HUMAN	RPS6KB1	HGNC	K7EIM2_HUMAN,B4DLT4_HUMAN	.	UPI000013C873	SNV	RPS6KB1,missense_variant,p.Arg330Ser,ENST00000406116,;RPS6KB1,missense_variant,p.Arg330Ser,ENST00000225577,;RPS6KB1,missense_variant,p.Arg307Ser,ENST00000443572,;RPS6KB1,missense_variant,p.Arg277Ser,ENST00000393021,;RP11-178C3.1,upstream_gene_variant,,ENST00000591035,;RPS6KB1,3_prime_UTR_variant,,ENST00000472940,;RPS6KB1,downstream_gene_variant,,ENST00000489824,;RPS6KB1,downstream_gene_variant,,ENST00000587622,;RPS6KB1,downstream_gene_variant,,ENST00000590928,;	1011	243	229	SUCCESS
MRC2	9902	.	GRCh37	17	60743465	60743465	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	29	79	0	ENST00000303375.5:c.531C>T	p.Thr177=	p.T177=	ENST00000303375	NM_006039.4	177	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11634.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACCATCCA	NONE	.	.	hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:2.10.10.10,Superfamily_domains:SSF57440	.	.	ENSP00000307513	.	3/30	.	.	.	.	.	.	.	.	.	3/30	nonpreferredpair	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,synonymous_variant,p.%3D,ENST00000303375,;Y_RNA,upstream_gene_variant,,ENST00000384652,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	933	79	45	SUCCESS
MAP2K6	5608	.	GRCh37	17	67521065	67521065	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	76	128	0	ENST00000590474.1:c.687C>T	p.Leu229=	p.L229=	ENST00000590474	NM_002758.3	229	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11686.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCAACCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF40,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000468348	.	9/12	.	.	.	.	.	.	.	.	.	9/12	nonpreferredpair	ENST00000590474	Transcript	.	.	ENSG00000108984	6846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP2K6_HUMAN	MAP2K6	HGNC	K7ELM6_HUMAN,A8K3Y2_HUMAN	.	UPI000012F492	SNV	MAP2K6,synonymous_variant,p.%3D,ENST00000589647,;MAP2K6,synonymous_variant,p.%3D,ENST00000590474,;MAP2K6,downstream_gene_variant,,ENST00000588110,;MAP2K6,downstream_gene_variant,,ENST00000589295,;MAP2K6,3_prime_UTR_variant,,ENST00000359094,;MAP2K6,downstream_gene_variant,,ENST00000591445,;MAP2K6,downstream_gene_variant,,ENST00000586641,;	974	128	135	SUCCESS
ITGB4	3691	.	GRCh37	17	73738509	73738509	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	49	0	ENST00000200181.3:c.2721A>G	p.Glu907=	p.E907=	ENST00000200181	NM_000213.3	907	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS11727.1	2721	RADIA|VARSCANS	.	GTGGAACAGAG	NONE	.	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513	.	.	ENSP00000200181	.	24/40	.	.	.	.	.	.	.	.	.	24/40	nonpreferredpair	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,synonymous_variant,p.%3D,ENST00000579662,;ITGB4,synonymous_variant,p.%3D,ENST00000450894,;ITGB4,synonymous_variant,p.%3D,ENST00000339591,;ITGB4,synonymous_variant,p.%3D,ENST00000449880,;ITGB4,synonymous_variant,p.%3D,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;	2908	49	38	SUCCESS
GAA	2548	.	GRCh37	17	78091993	78091993	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	61	0	ENST00000302262.3:c.2483G>T	p.Gly828Val	p.G828V	ENST00000302262	NM_000152.3	828	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32760.1	2483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCCCTG	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48	.	.	ENSP00000305692	.	18/20	.	.	.	.	.	.	.	.	.	18/20	nonpreferredpair	ENST00000302262	Transcript	.	.	ENSG00000171298	4065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.26)	.	LYAG_HUMAN	GAA	HGNC	I3L3L3_HUMAN,I3L0S5_HUMAN	.	UPI00000744FF	SNV	GAA,missense_variant,p.Gly828Val,ENST00000390015,;GAA,missense_variant,p.Gly828Val,ENST00000302262,;GAA,splice_region_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000570716,;GAA,downstream_gene_variant,,ENST00000572080,;	2702	61	57	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79409035	79409035	+	synonymous_variant	Silent	SNP	G	G	A	rs1335460508	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	82	0	ENST00000307745.7:c.660G>A	p.Val220=	p.V220=	ENST00000307745		220	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	.	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGGGCAA	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	9/32	.	.	.	.	.	.	.	.	.	9/32	nonpreferredpair	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,synonymous_variant,p.%3D,ENST00000571813,;RP11-1055B8.7,synonymous_variant,p.%3D,ENST00000307745,;RP11-1055B8.7,upstream_gene_variant,,ENST00000570375,;	660	82	39	SUCCESS
RAB40B	10966	.	GRCh37	17	80615904	80615904	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	146	0	ENST00000571995.1:c.672del	p.Phe225SerfsTer7	p.F225Sfs*7	ENST00000571995	NM_006822.2	224	tcC/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS11816.1	672	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGAAGGACTT	NONE	.	.	PROSITE_profiles:PS50225,hmmpanther:PTHR24073:SF344,hmmpanther:PTHR24073,SMART_domains:SM00253,SMART_domains:SM00969,Superfamily_domains:SSF158235	.	.	ENSP00000461785	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000571995	Transcript	.	.	ENSG00000141542	18284	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB40B_HUMAN	RAB40B	HGNC	J3KN64_HUMAN	.	UPI0000133001	deletion	RAB40B,frameshift_variant,p.Phe225SerfsTer7,ENST00000571995,;RAB40B,frameshift_variant,p.Phe46SerfsTer7,ENST00000269347,;RAB40B,3_prime_UTR_variant,,ENST00000538809,;RAB40B,3_prime_UTR_variant,,ENST00000576148,;RAB40B,upstream_gene_variant,,ENST00000571880,;RAB40B,downstream_gene_variant,,ENST00000571554,;RAB40B,downstream_gene_variant,,ENST00000572603,;RAB40B,non_coding_transcript_exon_variant,,ENST00000574132,;RAB40B,non_coding_transcript_exon_variant,,ENST00000576359,;RAB40B,non_coding_transcript_exon_variant,,ENST00000570676,;RAB40B,non_coding_transcript_exon_variant,,ENST00000573395,;	804	146	66	SUCCESS
CPAMD8	27151	.	GRCh37	19	17038989	17038989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200032712	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	66	0	ENST00000443236.1:c.3341C>T	p.Pro1114Leu	p.P1114L	ENST00000443236	NM_015692.2	1114	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42519.1	3341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGGGAGG	NONE	byCluster	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412,Pfam_domain:PF12248	.	.	ENSP00000402505	.	25/42	.	.	.	.	.	.	.	.	rs200032712,COSM4075245	25/42	nonpreferredpair	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.021)	.	tolerated(0.1)	0,1	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Pro1114Leu,ENST00000443236,;	3373	67	52	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768122	31768122	+	synonymous_variant	Silent	SNP	C	C	T	rs147790864	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	135	0	ENST00000240587.4:c.2577G>A	p.Thr859=	p.T859=	ENST00000240587	NM_020856.2	859	acG/acA	0	T:0.0007	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS12421.2	2577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGACGTGTG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	T:0.001	T:0.0014	ENSP00000240587	T:0.008	2/2	.	.	.	.	.	.	.	.	rs147790864,COSM1392509,COSM1392508	2/2	common_in_exac,nonpreferredpair	ENST00000240587	Transcript	.	T:0.0026	ENSG00000121297	30700	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0.0041	.	0,1,1	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,synonymous_variant,p.%3D,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2905	136	80	SUCCESS
MRPS12	6183	.	GRCh37	19	39421984	39421984	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1482500320	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	93	0	ENST00000308018.4:c.49+1G>A		p.X17_splice	ENST00000308018	NM_033362.3	17		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12525.1	.	MUTECT|MUSE|VARSCANS	.	TTGTGGTAAGT	NONE	.	.	.	.	.	ENSP00000384952	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000407800	Transcript	.	.	ENSG00000128626	10380	.	.	HIGH	1/1	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RT12_HUMAN	MRPS12	HGNC	.	.	UPI0000135267	SNV	MRPS12,splice_donor_variant,,ENST00000407800,;MRPS12,splice_donor_variant,,ENST00000308018,;MRPS12,splice_donor_variant,,ENST00000402029,;SARS2,intron_variant,,ENST00000448145,;CTC-360G5.8,intron_variant,,ENST00000599996,;SARS2,upstream_gene_variant,,ENST00000600042,;SARS2,upstream_gene_variant,,ENST00000221431,;SARS2,upstream_gene_variant,,ENST00000594171,;SARS2,upstream_gene_variant,,ENST00000430193,;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;MRPS12,non_coding_transcript_exon_variant,,ENST00000598734,;SARS2,upstream_gene_variant,,ENST00000455102,;SARS2,upstream_gene_variant,,ENST00000598343,;SARS2,upstream_gene_variant,,ENST00000598598,;SARS2,upstream_gene_variant,,ENST00000593754,;	.	93	59	SUCCESS
SIGLEC12	89858	.	GRCh37	19	52001391	52001391	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	94	0	ENST00000291707.3:c.1286G>T	p.Gly429Val	p.G429V	ENST00000291707	NM_053003.2	429	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12833.1	1286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCCAAGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,PROSITE_profiles:PS50835	.	.	ENSP00000291707	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000291707	Transcript	.	.	ENSG00000254521	15482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	SIG12_HUMAN	SIGLEC12	HGNC	.	.	UPI0000135992	SNV	SIGLEC12,missense_variant,p.Gly429Val,ENST00000291707,;SIGLEC12,missense_variant,p.Gly311Val,ENST00000598614,;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	1342	94	52	SUCCESS
ZNF432	9668	.	GRCh37	19	52538685	52538685	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749214090	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	55	214	0	ENST00000221315.5:c.247G>A	p.Glu83Lys	p.E83K	ENST00000221315	NM_014650.2	83	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12848.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCGTTGT	NONE	byFrequency	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165	.	.	ENSP00000470488	.	5/5	.	.	.	.	.	.	.	.	rs749214090	5/5	nonpreferredpair	ENST00000594154	Transcript	.	.	ENSG00000256087	20810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZN432_HUMAN	ZNF432	HGNC	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN	.	UPI0000139CDC	SNV	ZNF432,missense_variant,p.Glu83Lys,ENST00000221315,;ZNF432,missense_variant,p.Glu83Lys,ENST00000598745,;ZNF432,missense_variant,p.Glu83Lys,ENST00000594154,;ZNF432,missense_variant,p.Glu83Lys,ENST00000600368,;ZNF432,downstream_gene_variant,,ENST00000597273,;	460	214	146	SUCCESS
FCAR	2204	.	GRCh37	19	55386823	55386823	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	137	0	ENST00000355524.3:c.70+2T>C		p.X24_splice	ENST00000355524	NM_002000.2	24		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12907.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTAAGTG	NONE	.	.	.	.	.	ENSP00000347714	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000355524	Transcript	.	.	ENSG00000186431	3608	.	.	HIGH	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCAR_HUMAN	FCAR	HGNC	A5Y2F0_HUMAN	.	UPI000011B429	SNV	FCAR,splice_donor_variant,,ENST00000345937,;FCAR,splice_donor_variant,,ENST00000355524,;FCAR,splice_donor_variant,,ENST00000469767,;FCAR,splice_donor_variant,,ENST00000391725,;FCAR,intron_variant,,ENST00000353758,;FCAR,intron_variant,,ENST00000391724,;FCAR,intron_variant,,ENST00000359272,;FCAR,intron_variant,,ENST00000391723,;FCAR,intron_variant,,ENST00000391726,;FCAR,splice_donor_variant,,ENST00000482092,;FCAR,splice_donor_variant,,ENST00000471750,;FCAR,intron_variant,,ENST00000472634,;FCAR,intron_variant,,ENST00000488066,;	.	137	88	SUCCESS
FUT3	2525	.	GRCh37	19	5844841	5844841	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	128	0	ENST00000303225.6:c.10C>T	p.Leu4=	p.L4=	ENST00000303225	NM_000149.3	4	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12153.1	10	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGGGGAT	NONE	.	.	.	.	.	ENSP00000305603	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000303225	Transcript	1	.	ENSG00000171124	4014	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT3_HUMAN	FUT3	HGNC	K7ES24_HUMAN,K7EQ20_HUMAN,K7ENT3_HUMAN	.	UPI000013E879	SNV	FUT3,synonymous_variant,p.%3D,ENST00000589918,;FUT3,synonymous_variant,p.%3D,ENST00000458379,;FUT3,synonymous_variant,p.%3D,ENST00000303225,;FUT3,synonymous_variant,p.%3D,ENST00000589620,;FUT3,synonymous_variant,p.%3D,ENST00000587048,;FUT3,synonymous_variant,p.%3D,ENST00000585715,;FUT3,synonymous_variant,p.%3D,ENST00000587183,;FUT3,synonymous_variant,p.%3D,ENST00000589714,;AC024592.9,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT3,downstream_gene_variant,,ENST00000593144,;	645	128	82	SUCCESS
ZNF560	147741	.	GRCh37	19	9580387	9580387	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	99	0	ENST00000301480.4:c.449-1G>A		p.X150_splice	ENST00000301480	NM_152476.2	150		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12214.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTAACCTGTAC	NONE	.	.	.	.	.	ENSP00000301480	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000301480	Transcript	.	.	ENSG00000198028	26484	.	.	HIGH	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN560_HUMAN	ZNF560	HGNC	.	.	UPI000013E720	SNV	ZNF560,splice_acceptor_variant,,ENST00000301480,;ZNF560,non_coding_transcript_exon_variant,,ENST00000585974,;	.	99	67	SUCCESS
ZBTB7B	51043	.	GRCh37	1	154988092	154988092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	71	0	ENST00000292176.2:c.956G>A	p.Ser319Asn	p.S319N	ENST00000292176		319	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS58030.1	1058	RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAGCTCCC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF129	.	.	ENSP00000406286	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000417934	Transcript	.	.	ENSG00000160685	18668	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.542)	.	tolerated(0.08)	.	ZBT7B_HUMAN	ZBTB7B	HGNC	.	.	UPI0001A5EB6F	SNV	ZBTB7B,missense_variant,p.Ser319Asn,ENST00000535420,;ZBTB7B,missense_variant,p.Ser319Asn,ENST00000368426,;ZBTB7B,missense_variant,p.Ser319Asn,ENST00000292176,;ZBTB7B,missense_variant,p.Ser353Asn,ENST00000417934,;DCST2,downstream_gene_variant,,ENST00000368424,;ZBTB7B,downstream_gene_variant,,ENST00000461530,;ZBTB7B,downstream_gene_variant,,ENST00000483226,;ZBTB7B,downstream_gene_variant,,ENST00000487542,;DCST2,downstream_gene_variant,,ENST00000485982,;DCST2,downstream_gene_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000467991,;	1327	71	73	SUCCESS
ARHGAP30	257106	.	GRCh37	1	161017651	161017651	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs773550831	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	92	0	ENST00000368013.3:c.3160T>A	p.Ser1054Thr	p.S1054T	ENST00000368013	NM_181720.2	1054	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30918.1	3160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGATGGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15729	.	.	ENSP00000356992	.	12/12	.	.	.	.	.	.	.	.	rs773550831	12/12	nonpreferredpair	ENST00000368013	Transcript	.	.	ENSG00000186517	27414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious_low_confidence(0.02)	.	RHG30_HUMAN	ARHGAP30	HGNC	.	.	UPI0000160677	SNV	ARHGAP30,missense_variant,p.Ser1054Thr,ENST00000368013,;ARHGAP30,missense_variant,p.Ser843Thr,ENST00000368016,;ARHGAP30,missense_variant,p.Ser877Thr,ENST00000368015,;USF1,upstream_gene_variant,,ENST00000435396,;USF1,upstream_gene_variant,,ENST00000531842,;USF1,upstream_gene_variant,,ENST00000368019,;USF1,upstream_gene_variant,,ENST00000368021,;USF1,upstream_gene_variant,,ENST00000534633,;USF1,upstream_gene_variant,,ENST00000368020,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;USF1,upstream_gene_variant,,ENST00000496363,;ARHGAP30,downstream_gene_variant,,ENST00000490279,;USF1,upstream_gene_variant,,ENST00000473969,;USF1,upstream_gene_variant,,ENST00000491629,;USF1,upstream_gene_variant,,ENST00000529476,;	3481	92	70	SUCCESS
CLCNKA	1187	.	GRCh37	1	16356554	16356554	+	synonymous_variant	Silent	SNP	G	G	A	rs779986266	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	105	0	ENST00000331433.4:c.1392G>A	p.Gly464=	p.G464=	ENST00000331433		464	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS167.1	1392	MUTECT|MUSE	.	CCCGGGGGGTA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340,Prints_domain:PR00762	.	.	ENSP00000332771	.	14/20	.	.	.	.	.	.	.	.	rs779986266	14/20	nonpreferredpair	ENST00000331433	Transcript	.	.	ENSG00000186510	2026	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLCKA_HUMAN	CLCNKA	HGNC	.	.	UPI0000127993	SNV	CLCNKA,synonymous_variant,p.%3D,ENST00000331433,;CLCNKA,synonymous_variant,p.%3D,ENST00000420078,;CLCNKA,synonymous_variant,p.%3D,ENST00000439316,;CLCNKA,synonymous_variant,p.%3D,ENST00000375692,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;	1411	105	71	SUCCESS
OBSCN	84033	.	GRCh37	1	228487124	228487124	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	155	0	ENST00000422127.1:c.11659+4380G>A		p.*3887*	ENST00000422127	NM_001098623.2	4459		0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS59204.1	13375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGTGTGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	50/116	.	.	.	.	.	.	.	.	.	50/116	nonpreferredpair	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.422)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Val1149Met,ENST00000366707,;OBSCN,missense_variant,p.Val1306Met,ENST00000483539,;OBSCN,missense_variant,p.Val4459Met,ENST00000570156,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000602685,;OBSCN,upstream_gene_variant,,ENST00000602832,;OBSCN,downstream_gene_variant,,ENST00000494839,;	13449	155	75	SUCCESS
TCEB3	0	.	GRCh37	1	24082423	24082423	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	131	0	ENST00000418390.2:c.1960G>C	p.Glu654Gln	p.E654Q	ENST00000418390	NM_003198.2	654	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS239.2	1960	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAGAGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141,Pfam_domain:PF06881	.	.	ENSP00000395574	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000418390	Transcript	.	.	ENSG00000011007	11620	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.867)	.	deleterious(0)	.	ELOA1_HUMAN	TCEB3	HGNC	.	.	UPI000181BA17	SNV	TCEB3,missense_variant,p.Glu654Gln,ENST00000418390,;TCEB3,missense_variant,p.Glu628Gln,ENST00000609199,;RP5-886K2.3,downstream_gene_variant,,ENST00000427796,;TCEB3,downstream_gene_variant,,ENST00000487554,;	2231	131	72	SUCCESS
KIF28P	100130097	.	GRCh37	1	246940155	246940155	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	107	0	ENST00000504864.2:n.2559+81T>C		p.*853*	ENST00000504864				0	.	.	.	.	.	G	.	antisense	YES	.	.	RADIA|VARSCANS	.	TGTTAAGGGGG	NONE	.	1081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000567832	Transcript	.	.	ENSG00000260855	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-439E19.10	Clone_based_vega_gene	.	.	.	SNV	RP11-439E19.3,non_coding_transcript_exon_variant,,ENST00000421003,;RP11-439E19.3,intron_variant,,ENST00000509202,;RP11-439E19.3,intron_variant,,ENST00000505748,;RP11-439E19.10,downstream_gene_variant,,ENST00000567832,;KIF28P,intron_variant,,ENST00000451123,;KIF28P,downstream_gene_variant,,ENST00000508436,;KIF28P,intron_variant,,ENST00000504864,;	.	107	36	SUCCESS
OR2B11	127623	.	GRCh37	1	247615107	247615107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	126	0	ENST00000318749.6:c.178C>A	p.His60Asn	p.H60N	ENST00000318749	NM_001004492.1	60	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS31090.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGAGTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious(0.03)	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,missense_variant,p.His60Asn,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	202	126	82	SUCCESS
OR2B11	127623	.	GRCh37	1	247615108	247615108	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	123	0	ENST00000318749.6:c.177C>A	p.Leu59=	p.L59=	ENST00000318749	NM_001004492.1	59	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31090.1	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGAGTTG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,synonymous_variant,p.%3D,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	201	124	82	SUCCESS
SF3A3	10946	.	GRCh37	1	38453345	38453345	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372195588	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	195	1	ENST00000373019.4:c.203G>A	p.Arg68Gln	p.R68Q	ENST00000373019	NM_006802.2	68	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS428.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCGTAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF2	.	T:0.0001	ENSP00000362110	.	4/17	.	.	.	.	.	.	.	.	rs372195588	4/17	nonpreferredpair	ENST00000373019	Transcript	.	.	ENSG00000183431	10767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SF3A3_HUMAN	SF3A3	HGNC	.	.	UPI0000135469	SNV	SF3A3,missense_variant,p.Arg68Gln,ENST00000373019,;SF3A3,intron_variant,,ENST00000448721,;RNU6-510P,upstream_gene_variant,,ENST00000391239,;SF3A3,non_coding_transcript_exon_variant,,ENST00000462258,;SF3A3,non_coding_transcript_exon_variant,,ENST00000489537,;SF3A3,intron_variant,,ENST00000470585,;SF3A3,intron_variant,,ENST00000461869,;	1159	196	122	SUCCESS
MKNK1	8569	.	GRCh37	1	47028365	47028365	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	92	0	ENST00000371946.4:c.919G>A	p.Ala307Thr	p.A307T	ENST00000371946	NM_003684.5	307	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS538.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGCCCCGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000361014	.	11/14	.	.	.	.	.	.	.	.	.	11/14	nonpreferredpair	ENST00000371946	Transcript	.	.	ENSG00000079277	7110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.62)	.	MKNK1_HUMAN	MKNK1	HGNC	E9PSE0_HUMAN,E9PLE7_HUMAN	.	UPI0000073749	SNV	MKNK1,missense_variant,p.Ala266Thr,ENST00000371945,;MKNK1,missense_variant,p.Ala59Thr,ENST00000524749,;MKNK1,missense_variant,p.Ala307Thr,ENST00000371946,;MKNK1,missense_variant,p.Ala171Thr,ENST00000371944,;MKNK1,missense_variant,p.Ala266Thr,ENST00000428112,;MKNK1,missense_variant,p.Ala266Thr,ENST00000341183,;MKNK1-AS1,intron_variant,,ENST00000602433,;MKNK1,non_coding_transcript_exon_variant,,ENST00000470237,;MKNK1,downstream_gene_variant,,ENST00000460098,;MKNK1,3_prime_UTR_variant,,ENST00000528077,;MKNK1,3_prime_UTR_variant,,ENST00000531355,;MKNK1,3_prime_UTR_variant,,ENST00000342571,;MKNK1,non_coding_transcript_exon_variant,,ENST00000532897,;MKNK1,non_coding_transcript_exon_variant,,ENST00000530528,;MKNK1,downstream_gene_variant,,ENST00000524417,;	1083	92	46	SUCCESS
KCNAB2	8514	.	GRCh37	1	6157521	6157521	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	10	0	ENST00000164247.1:c.1014+104C>A		p.*338*	ENST00000164247	NM_001199860.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55570.1	.	MUTECT|MUSE	.	AGGCACTCAGG	NONE	.	.	.	.	.	ENSP00000367323	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000378083	Transcript	.	.	ENSG00000069424	6229	.	.	MODIFIER	15/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCAB2_HUMAN	KCNAB2	HGNC	.	.	UPI000035E741	SNV	KCNAB2,missense_variant,p.Thr373Asn,ENST00000602612,;KCNAB2,intron_variant,,ENST00000378083,;KCNAB2,intron_variant,,ENST00000164247,;KCNAB2,intron_variant,,ENST00000378097,;KCNAB2,intron_variant,,ENST00000378087,;KCNAB2,intron_variant,,ENST00000341524,;KCNAB2,intron_variant,,ENST00000352527,;KCNAB2,intron_variant,,ENST00000458166,;KCNAB2,intron_variant,,ENST00000378092,;KCNAB2,intron_variant,,ENST00000378111,;KCNAB2,downstream_gene_variant,,ENST00000389632,;CHD5,downstream_gene_variant,,ENST00000262450,;CHD5,downstream_gene_variant,,ENST00000378021,;KCNAB2,downstream_gene_variant,,ENST00000428161,;KCNAB2,intron_variant,,ENST00000481789,;	.	10	8	SUCCESS
TNFRSF25	8718	.	GRCh37	1	6522204	6522204	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	119	0	ENST00000356876.3:c.775C>T	p.His259Tyr	p.H259Y	ENST00000356876	NM_003790.2	259	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS72.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTGGGCGC	NONE	.	.	Prints_domain:PR01972,hmmpanther:PTHR23097:SF104,hmmpanther:PTHR23097	.	.	ENSP00000367013	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000377782	Transcript	.	.	ENSG00000215788	11910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.15)	.	TNR25_HUMAN	TNFRSF25	HGNC	B3KSV7_HUMAN	.	UPI000002B5CB	SNV	TNFRSF25,missense_variant,p.His259Tyr,ENST00000356876,;TNFRSF25,missense_variant,p.His214Tyr,ENST00000348333,;TNFRSF25,missense_variant,p.His76Tyr,ENST00000351748,;TNFRSF25,missense_variant,p.His222Tyr,ENST00000351959,;TNFRSF25,missense_variant,p.His268Tyr,ENST00000377782,;PLEKHG5,downstream_gene_variant,,ENST00000377725,;PLEKHG5,downstream_gene_variant,,ENST00000400913,;PLEKHG5,downstream_gene_variant,,ENST00000535355,;PLEKHG5,downstream_gene_variant,,ENST00000340850,;PLEKHG5,downstream_gene_variant,,ENST00000400915,;PLEKHG5,downstream_gene_variant,,ENST00000377737,;ESPN,downstream_gene_variant,,ENST00000434576,;ESPN,downstream_gene_variant,,ENST00000416731,;TNFRSF25,downstream_gene_variant,,ENST00000481401,;ESPN,downstream_gene_variant,,ENST00000377828,;PLEKHG5,downstream_gene_variant,,ENST00000377748,;ESPN,downstream_gene_variant,,ENST00000461727,;PLEKHG5,downstream_gene_variant,,ENST00000377740,;PLEKHG5,downstream_gene_variant,,ENST00000377732,;PLEKHG5,downstream_gene_variant,,ENST00000377728,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000475730,;ESPN,downstream_gene_variant,,ENST00000468561,;ESPN,downstream_gene_variant,,ENST00000475228,;TNFRSF25,downstream_gene_variant,,ENST00000461703,;TNFRSF25,missense_variant,p.Pro120Leu,ENST00000502730,;TNFRSF25,3_prime_UTR_variant,,ENST00000485036,;TNFRSF25,3_prime_UTR_variant,,ENST00000480393,;TNFRSF25,3_prime_UTR_variant,,ENST00000502588,;TNFRSF25,3_prime_UTR_variant,,ENST00000414040,;TNFRSF25,3_prime_UTR_variant,,ENST00000510563,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000453260,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000469691,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000513135,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000473343,;TNFRSF25,downstream_gene_variant,,ENST00000515145,;TNFRSF25,downstream_gene_variant,,ENST00000453341,;PLEKHG5,downstream_gene_variant,,ENST00000489097,;PLEKHG5,downstream_gene_variant,,ENST00000487949,;ESPN,downstream_gene_variant,,ENST00000477679,;	870	120	80	SUCCESS
MTF2	22823	.	GRCh37	1	93599749	93599749	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	183	0	ENST00000370298.4:c.1421del	p.Tyr474LeufsTer43	p.Y474Lfs*43	ENST00000370298	NM_007358.3	474	tAt/tt	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS742.1	1421	INDELOCATOR|VARSCANI	.	GGCATTATGGGT	NONE	.	.	hmmpanther:PTHR12628:SF12,hmmpanther:PTHR12628	.	.	ENSP00000359321	.	14/15	.	.	.	.	.	.	.	.	.	14/15	nonpreferredpair	ENST00000370298	Transcript	.	.	ENSG00000143033	29535	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTF2_HUMAN	MTF2	HGNC	.	.	UPI0000205B55	deletion	MTF2,frameshift_variant,p.Tyr417LeufsTer43,ENST00000370303,;MTF2,frameshift_variant,p.Tyr372LeufsTer43,ENST00000540243,;MTF2,frameshift_variant,p.Tyr372LeufsTer43,ENST00000545708,;MTF2,frameshift_variant,p.Tyr474LeufsTer43,ENST00000370298,;MTF2,non_coding_transcript_exon_variant,,ENST00000467953,;MTF2,non_coding_transcript_exon_variant,,ENST00000471953,;MTF2,non_coding_transcript_exon_variant,,ENST00000487263,;MTF2,non_coding_transcript_exon_variant,,ENST00000489480,;MTF2,non_coding_transcript_exon_variant,,ENST00000476037,;MTF2,downstream_gene_variant,,ENST00000497976,;	1710	183	115	SUCCESS
SIRPD	128646	.	GRCh37	20	1532400	1532400	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	127	0	ENST00000381623.3:c.358T>C	p.Phe120Leu	p.F120L	ENST00000381623		120	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS13018.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAACTTCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF8,hmmpanther:PTHR19971	.	.	ENSP00000371036	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000381623	Transcript	.	.	ENSG00000125900	16248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated(0.08)	.	SIRPD_HUMAN	SIRPD	HGNC	.	.	UPI000013CBD7	SNV	SIRPD,missense_variant,p.Phe120Leu,ENST00000381621,;SIRPD,missense_variant,p.Phe120Leu,ENST00000381623,;SIRPD,intron_variant,,ENST00000429387,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,downstream_gene_variant,,ENST00000567028,;RP4-576H24.4,downstream_gene_variant,,ENST00000564763,;RP4-576H24.2,non_coding_transcript_exon_variant,,ENST00000453770,;	1548	127	72	SUCCESS
ATP9A	10079	.	GRCh37	20	50346419	50346419	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	123	0	ENST00000338821.5:c.167A>T	p.Asn56Ile	p.N56I	ENST00000338821	NM_006045.1	56	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS33489.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATTCCGA	NONE	.	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000342481	.	2/28	.	.	.	.	.	.	.	.	.	2/28	nonpreferredpair	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Asn56Ile,ENST00000338821,;ATP9A,missense_variant,p.Asn56Ile,ENST00000402822,;ATP9A,missense_variant,p.Asn41Ile,ENST00000311637,;ATP9A,non_coding_transcript_exon_variant,,ENST00000477492,;RP5-827A12.2,upstream_gene_variant,,ENST00000400354,;	432	123	65	SUCCESS
C20orf196	0	.	GRCh37	20	5844104	5844104	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1013659039	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	76	0	ENST00000303142.6:c.613C>G	p.Leu205Val	p.L205V	ENST00000303142	NM_152504.2	205	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS13091.1	613	RADIA|MUTECT|VARSCANS	.	AAGACCTGTAA	NONE	.	.	.	.	.	ENSP00000305875	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000303142	Transcript	.	.	ENSG00000171984	26318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.899)	.	deleterious_low_confidence(0.04)	.	CT196_HUMAN	C20orf196	HGNC	.	.	UPI0000074251	SNV	C20orf196,missense_variant,p.Leu205Val,ENST00000303142,;C20orf196,downstream_gene_variant,,ENST00000442185,;C20orf196,downstream_gene_variant,,ENST00000445603,;	700	76	52	SUCCESS
PLCB4	5332	.	GRCh37	20	9401994	9401994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	141	0	ENST00000278655.4:c.2169G>T	p.Glu723Asp	p.E723D	ENST00000278655	NM_182797.2	723	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13104.1	2169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAGGTGGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF49562	.	.	ENSP00000367762	.	23/36	.	.	.	.	.	.	.	.	.	23/36	nonpreferredpair	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Glu723Asp,ENST00000334005,;PLCB4,missense_variant,p.Glu735Asp,ENST00000414679,;PLCB4,missense_variant,p.Glu723Asp,ENST00000278655,;PLCB4,missense_variant,p.Glu735Asp,ENST00000378473,;PLCB4,missense_variant,p.Glu723Asp,ENST00000378493,;PLCB4,missense_variant,p.Glu723Asp,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	2184	141	99	SUCCESS
KCNJ6	3763	.	GRCh37	21	39086700	39086700	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	29	263	0	ENST00000609713.1:c.760C>T	p.Pro254Ser	p.P254S	ENST00000609713	NM_002240.3	254	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS42927.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACGGGATGA	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19,Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000477437	.	3/4	.	.	.	.	.	.	.	.	COSM3550625	3/4	nonpreferredpair	ENST00000609713	Transcript	.	.	ENSG00000157542	6267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	.	KCNJ6	HGNC	.	.	UPI0000000B10	SNV	KCNJ6,missense_variant,p.Pro254Ser,ENST00000288309,;KCNJ6,missense_variant,p.Pro254Ser,ENST00000609713,;KCNJ6-IT1,downstream_gene_variant,,ENST00000435001,;	1350	263	156	SUCCESS
IGLC1	3537	.	GRCh37	22	23237760	23237760	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367960872	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	57	287	1	ENST00000390321.2:c.207C>A	p.Ser69Arg	p.S69R	ENST00000390321		69	agC/agA	0	A:0	.	.	.	.	A	S/R	protein_coding	YES	CCDS54506.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAGCTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF75,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	A:0.0001	ENSP00000431254	.	3/3	.	.	.	.	.	.	.	.	rs367960872	3/3	nonpreferredpair	ENST00000526893	Transcript	.	.	ENSG00000254709	38476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious_low_confidence(0)	.	LAC1_HUMAN,IGLL5_HUMAN	IGLL5	HGNC	A0M8Q9_HUMAN	.	UPI0000119C74	SNV	IGLL5,missense_variant,p.Ser178Arg,ENST00000532223,;IGLL5,missense_variant,p.Ser177Arg,ENST00000526893,;IGLL5,3_prime_UTR_variant,,ENST00000531372,;IGLC1,missense_variant,p.Ser69Arg,ENST00000390321,;IGLJ1,downstream_gene_variant,,ENST00000390320,;IGLJ2,upstream_gene_variant,,ENST00000390322,;	805	288	162	SUCCESS
EWSR1	2130	.	GRCh37	22	29694814	29694814	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	62	0	ENST00000397938.2:c.1509G>A	p.Arg503=	p.R503=	ENST00000397938	NM_001163286.1	503	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13852.2	1524	MUTECT|MUSE	.	CCCCGGGGTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238	.	.	ENSP00000400142	.	15/18	.	.	.	.	.	.	.	.	.	15/18	nonpreferredpair	ENST00000414183	Transcript	.	.	ENSG00000182944	3508	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EWS_HUMAN	EWSR1	HGNC	.	.	UPI000006DE88	SNV	EWSR1,synonymous_variant,p.%3D,ENST00000406548,;EWSR1,synonymous_variant,p.%3D,ENST00000414183,;EWSR1,synonymous_variant,p.%3D,ENST00000332050,;EWSR1,synonymous_variant,p.%3D,ENST00000397938,;EWSR1,synonymous_variant,p.%3D,ENST00000332035,;EWSR1,synonymous_variant,p.%3D,ENST00000331029,;EWSR1,synonymous_variant,p.%3D,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;	1545	62	58	SUCCESS
NPAS2	4862	.	GRCh37	2	101580593	101580593	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	131	0	ENST00000335681.5:c.672T>C	p.Val224=	p.V224=	ENST00000335681	NM_002518.3	224	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2048.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTTTGCTT	NONE	.	.	hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042	.	.	ENSP00000338283	.	8/21	.	.	.	.	.	.	.	.	.	8/21	nonpreferredpair	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	SNV	NPAS2,synonymous_variant,p.%3D,ENST00000335681,;NPAS2,synonymous_variant,p.%3D,ENST00000542504,;NPAS2,intron_variant,,ENST00000448812,;NPAS2,non_coding_transcript_exon_variant,,ENST00000486017,;NPAS2,non_coding_transcript_exon_variant,,ENST00000492373,;	957	131	80	SUCCESS
ARL5A	26225	.	GRCh37	2	152684642	152684642	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	146	0	ENST00000295087.8:c.46+3G>T		p.X16_splice	ENST00000295087	NM_012097.3	16		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2195.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCACCCT	NONE	.	.	.	.	.	ENSP00000295087	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000295087	Transcript	.	.	ENSG00000162980	696	.	.	LOW	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARL5A_HUMAN	ARL5A	HGNC	.	.	UPI0000125EE6	SNV	ARL5A,splice_region_variant,,ENST00000295087,;ARL5A,intron_variant,,ENST00000428992,;CACNB4,downstream_gene_variant,,ENST00000360283,;CACNB4,downstream_gene_variant,,ENST00000539935,;ARL5A,splice_region_variant,,ENST00000487723,;ARL5A,intron_variant,,ENST00000446896,;ARL5A,intron_variant,,ENST00000458140,;	.	146	31	SUCCESS
CACNB4	785	.	GRCh37	2	152732958	152732958	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs376364352	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	269	0	ENST00000539935.1:c.503G>C	p.Arg168Thr	p.R168T	ENST00000539935	NM_001145798.1	168	aGa/aCa	0	G:0.0003	.	.	.	.	G	R/T	protein_coding	YES	CCDS46426.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCTTTTT	NONE	byCluster	.	Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR11824:SF7,hmmpanther:PTHR11824	.	G:0	ENSP00000438949	.	5/14	.	.	.	.	.	.	.	.	rs376364352	5/14	nonpreferredpair	ENST00000539935	Transcript	.	.	ENSG00000182389	1404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.357)	.	tolerated(0.18)	.	CACB4_HUMAN	CACNB4	HGNC	Q9NZA2_HUMAN,Q580I4_HUMAN,Q53S65_HUMAN	.	UPI0000208F1E	SNV	CACNB4,missense_variant,p.Arg134Thr,ENST00000534999,;CACNB4,missense_variant,p.Arg150Thr,ENST00000427385,;CACNB4,missense_variant,p.Arg121Thr,ENST00000397327,;CACNB4,missense_variant,p.Arg134Thr,ENST00000360283,;CACNB4,missense_variant,p.Arg168Thr,ENST00000201943,;CACNB4,missense_variant,p.Arg168Thr,ENST00000539935,;CACNB4,missense_variant,p.Arg163Thr,ENST00000439467,;CACNB4,downstream_gene_variant,,ENST00000434468,;CACNB4,non_coding_transcript_exon_variant,,ENST00000470066,;	571	269	59	SUCCESS
SLC25A12	8604	.	GRCh37	2	172691267	172691267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	108	0	ENST00000422440.2:c.721G>T	p.Gly241Cys	p.G241C	ENST00000422440	NM_003705.4	241	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33327.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCAGCTA	NONE	.	.	Superfamily_domains:SSF47473	.	.	ENSP00000388658	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,missense_variant,p.Gly241Cys,ENST00000422440,;SLC25A12,missense_variant,p.Gly134Cys,ENST00000392592,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,3_prime_UTR_variant,,ENST00000426896,;SLC25A12,upstream_gene_variant,,ENST00000485880,;SLC25A12,downstream_gene_variant,,ENST00000475360,;	759	108	43	SUCCESS
MYT1L	23040	.	GRCh37	2	1946920	1946920	+	synonymous_variant	Silent	SNP	G	G	A	rs1323553095	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	401	24	409	0	ENST00000399161.2:c.339C>T	p.Asp113=	p.D113=	ENST00000399161	NM_015025.2	113	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS46222.1	339	MUTECT|MUSE	.	TCATTGTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	9/25	.	.	.	.	.	.	.	.	.	9/25	nonpreferredpair	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,synonymous_variant,p.%3D,ENST00000399161,;MYT1L,synonymous_variant,p.%3D,ENST00000428368,;	1009	409	425	SUCCESS
ALS2	57679	.	GRCh37	2	202633600	202633600	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	130	0	ENST00000264276.6:c.9A>C	p.Ser3=	p.S3=	ENST00000264276	NM_020919.3	3	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS42800.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGAGTC	NONE	.	.	.	.	.	ENSP00000264276	.	2/34	.	.	.	.	.	.	.	.	.	2/34	nonpreferredpair	ENST00000264276	Transcript	.	.	ENSG00000003393	443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALS2_HUMAN	ALS2	HGNC	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN	.	UPI0000231C77	SNV	ALS2,synonymous_variant,p.%3D,ENST00000467448,;ALS2,synonymous_variant,p.%3D,ENST00000264276,;ALS2,synonymous_variant,p.%3D,ENST00000410052,;ALS2,synonymous_variant,p.%3D,ENST00000409632,;ALS2,non_coding_transcript_exon_variant,,ENST00000462747,;ALS2,non_coding_transcript_exon_variant,,ENST00000496244,;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;ALS2,non_coding_transcript_exon_variant,,ENST00000482789,;	382	130	62	SUCCESS
FARP2	9855	.	GRCh37	2	242343251	242343251	+	synonymous_variant	Silent	SNP	C	C	T	rs766643383	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	151	1	ENST00000264042.3:c.192C>T	p.Cys64=	p.C64=	ENST00000264042	NM_014808.2	64	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS33424.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCGATGG	NONE	byFrequency	.	PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000264042	.	3/27	.	.	.	.	.	.	.	.	rs766643383,COSM275094	3/27	nonpreferredpair	ENST00000264042	Transcript	.	.	ENSG00000006607	16460	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FARP2_HUMAN	FARP2	HGNC	C9JWM9_HUMAN,C9JVQ5_HUMAN	.	UPI0000073D5B	SNV	FARP2,synonymous_variant,p.%3D,ENST00000445489,;FARP2,synonymous_variant,p.%3D,ENST00000264042,;FARP2,synonymous_variant,p.%3D,ENST00000545004,;FARP2,synonymous_variant,p.%3D,ENST00000418082,;FARP2,synonymous_variant,p.%3D,ENST00000373287,;FARP2,non_coding_transcript_exon_variant,,ENST00000464142,;FARP2,non_coding_transcript_exon_variant,,ENST00000467260,;FARP2,non_coding_transcript_exon_variant,,ENST00000478489,;FARP2,non_coding_transcript_exon_variant,,ENST00000473082,;	362	152	87	SUCCESS
PCBP1	5093	.	GRCh37	2	70315174	70315174	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1422143141	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	54	0	ENST00000303577.5:c.299T>A	p.Leu100Gln	p.L100Q	ENST00000303577	NM_006196.3	100	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1898.1	299	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CACCCTGAGGC	SITE|p.L100Q|c.299T>A|9	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF96,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	COSM287208,COSM195129	1/1	nonpreferredpair	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.964)	.	deleterious(0.01)	1,1	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	SNV	PCBP1,missense_variant,p.Leu100Gln,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;PCBP1-AS1,intron_variant,,ENST00000596028,;PCBP1-AS1,intron_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;	590	54	21	SUCCESS
CLEC4F	165530	.	GRCh37	2	71043634	71043634	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	16	390	0	ENST00000272367.2:c.879G>C	p.Gln293His	p.Q293H	ENST00000272367	NM_001258027.1	293	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS1910.1	879	MUTECT|MUSE	.	GTGTTCTGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195	.	.	ENSP00000272367	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000272367	Transcript	.	.	ENSG00000152672	25357	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	CLC4F_HUMAN	CLEC4F	HGNC	.	.	UPI0000376BCC	SNV	CLEC4F,missense_variant,p.Gln293His,ENST00000426626,;CLEC4F,missense_variant,p.Gln293His,ENST00000272367,;	956	390	261	SUCCESS
TEX261	113419	.	GRCh37	2	71215838	71215838	+	synonymous_variant	Silent	SNP	G	G	A	rs782334318	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	98	0	ENST00000272438.4:c.483C>T	p.Val161=	p.V161=	ENST00000272438	NM_144582.2	161	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1914.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGACATC	NONE	byFrequency	.	hmmpanther:PTHR13144:SF0,hmmpanther:PTHR13144,Pfam_domain:PF04148	.	.	ENSP00000272438	.	6/6	.	.	.	.	.	.	.	.	rs782334318	6/6	nonpreferredpair	ENST00000272438	Transcript	.	.	ENSG00000144043	30712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TX261_HUMAN	TEX261	HGNC	B3KQF1_HUMAN,B2RDH4_HUMAN	.	UPI000004C62F	SNV	TEX261,synonymous_variant,p.%3D,ENST00000272438,;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,downstream_gene_variant,,ENST00000457410,;ANKRD53,downstream_gene_variant,,ENST00000272421,;ANKRD53,downstream_gene_variant,,ENST00000441349,;ANKRD53,downstream_gene_variant,,ENST00000360589,;TEX261,non_coding_transcript_exon_variant,,ENST00000466731,;TEX261,3_prime_UTR_variant,,ENST00000433258,;TEX261,non_coding_transcript_exon_variant,,ENST00000478068,;AC007040.11,intron_variant,,ENST00000453130,;TEX261,downstream_gene_variant,,ENST00000489894,;ANKRD53,downstream_gene_variant,,ENST00000460927,;TEX261,downstream_gene_variant,,ENST00000473055,;	671	98	58	SUCCESS
CTNNA2	1496	.	GRCh37	2	80101327	80101327	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	63	0	ENST00000402739.4:c.711A>G	p.Arg237=	p.R237=	ENST00000402739	NM_001282597.1	237	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS42703.2	711	RADIA|MUTECT|VARSCANS	.	ACGAGAGCCAA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	10/22	.	.	.	.	.	.	.	.	.	10/22	nonpreferredpair	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,synonymous_variant,p.%3D,ENST00000496558,;CTNNA2,synonymous_variant,p.%3D,ENST00000540488,;CTNNA2,synonymous_variant,p.%3D,ENST00000361291,;CTNNA2,synonymous_variant,p.%3D,ENST00000466387,;CTNNA2,synonymous_variant,p.%3D,ENST00000541047,;CTNNA2,synonymous_variant,p.%3D,ENST00000402739,;	1435	63	44	SUCCESS
TRMT10C	54931	.	GRCh37	3	101283884	101283884	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	181	0	ENST00000309922.6:c.259G>A	p.Asp87Asn	p.D87N	ENST00000309922	NM_017819.3	87	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43122.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAGGATGAA	NONE	.	.	hmmpanther:PTHR13563,hmmpanther:PTHR13563:SF5	.	.	ENSP00000312356	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000309922	Transcript	.	.	ENSG00000174173	26022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.02)	.	MRRP1_HUMAN	TRMT10C	HGNC	C9JVB6_HUMAN	.	UPI0000034E2A	SNV	TRMT10C,missense_variant,p.Asp87Asn,ENST00000495642,;TRMT10C,missense_variant,p.Asp87Asn,ENST00000309922,;	413	181	102	SUCCESS
CEP97	79598	.	GRCh37	3	101481359	101481360	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	235	51	377	0	ENST00000341893.3:c.1854dup	p.Phe619IlefsTer34	p.F619Ifs*34	ENST00000341893		616	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS2944.1	1848-1849	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTATTAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232	.	.	ENSP00000342510	.	10/11	.	.	.	.	.	.	.	.	.	10/11	nonpreferredpair	ENST00000341893	Transcript	.	.	ENSG00000182504	26244	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CEP97_HUMAN	CEP97	HGNC	.	.	UPI0000074569	insertion	CEP97,frameshift_variant,p.Phe560IlefsTer34,ENST00000494050,;CEP97,frameshift_variant,p.Phe619IlefsTer60,ENST00000327230,;CEP97,frameshift_variant,p.Phe619IlefsTer34,ENST00000341893,;CEP97,3_prime_UTR_variant,,ENST00000467655,;CEP97,downstream_gene_variant,,ENST00000489172,;	2600-2601	377	286	SUCCESS
ZBED2	79413	.	GRCh37	3	111313353	111313353	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	62	279	0	ENST00000317012.4:c.-305del		p.*102*	ENST00000317012	NM_024508.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2960.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAAAGGGGTT	NONE	.	.	.	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	deletion	ZBED2,5_prime_UTR_variant,,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	705	279	220	SUCCESS
GTF2E1	2960	.	GRCh37	3	120469757	120469757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	55	139	0	ENST00000283875.5:c.358G>A	p.Asp120Asn	p.D120N	ENST00000283875	NM_005513.2	120	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS3002.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGATTCG	NONE	.	.	hmmpanther:PTHR13097,hmmpanther:PTHR13097:SF6,Pfam_domain:PF02002,Gene3D:3.30.40.10,SMART_domains:SM00531,Superfamily_domains:SSF57783	.	.	ENSP00000283875	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000283875	Transcript	.	.	ENSG00000153767	4650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.11)	.	T2EA_HUMAN	GTF2E1	HGNC	Q53F88_HUMAN,Q05DN6_HUMAN,E9PER7_HUMAN,C9J329_HUMAN,C9IYL4_HUMAN	.	UPI000013DD5F	SNV	GTF2E1,missense_variant,p.Asp120Asn,ENST00000492959,;GTF2E1,missense_variant,p.Asp120Asn,ENST00000283875,;GTF2E1,intron_variant,,ENST00000469772,;GTF2E1,downstream_gene_variant,,ENST00000484715,;GTF2E1,non_coding_transcript_exon_variant,,ENST00000497393,;	451	139	103	SUCCESS
TIMP4	7079	.	GRCh37	3	12195189	12195189	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	75	0	ENST00000287814.4:c.501del	p.Cys168ValfsTer31	p.C168Vfs*31	ENST00000287814	NM_003256.3	167	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS2608.1	501	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTACAGGGTAC	NONE	.	.	hmmpanther:PTHR11844:SF8,hmmpanther:PTHR11844,Pfam_domain:PF00965,Gene3D:2e2dC01,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000287814	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000287814	Transcript	.	.	ENSG00000157150	11823	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIMP4_HUMAN	TIMP4	HGNC	.	.	UPI0000136FA3	deletion	TIMP4,frameshift_variant,p.Cys168ValfsTer31,ENST00000287814,;SYN2,intron_variant,,ENST00000432424,;SYN2,intron_variant,,ENST00000426379,;SYN2,upstream_gene_variant,,ENST00000447752,;SYN2,downstream_gene_variant,,ENST00000424884,;SYN2,intron_variant,,ENST00000439861,;	1012	75	41	SUCCESS
PLXND1	23129	.	GRCh37	3	129275500	129275500	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	188	0	ENST00000324093.4:c.5621T>C	p.Met1874Thr	p.M1874T	ENST00000324093	NM_015103.2	1874	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS33854.1	5621	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCCATGGCC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337	.	.	ENSP00000317128	.	35/36	.	.	.	.	.	.	.	.	.	35/36	nonpreferredpair	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.574)	.	deleterious(0)	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Met30Thr,ENST00000504689,;PLXND1,missense_variant,p.Met1874Thr,ENST00000324093,;PLXND1,missense_variant,p.Met218Thr,ENST00000506979,;PLXND1,3_prime_UTR_variant,,ENST00000393239,;PLXND1,3_prime_UTR_variant,,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000501038,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504524,;PLXND1,downstream_gene_variant,,ENST00000508630,;PLXND1,downstream_gene_variant,,ENST00000512807,;	5800	188	121	SUCCESS
TRIM71	131405	.	GRCh37	3	32915309	32915309	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	25	238	1	ENST00000383763.5:c.853-1G>A		p.X285_splice	ENST00000383763	NM_001039111.1	285		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43060.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGTGCT	NONE	.	.	.	.	.	ENSP00000373272	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000383763	Transcript	.	.	ENSG00000206557	32669	.	.	HIGH	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIN41_HUMAN	TRIM71	HGNC	.	.	UPI000067CB89	SNV	TRIM71,splice_acceptor_variant,,ENST00000383763,;	.	239	168	SUCCESS
TMEM184C	55751	.	GRCh37	4	148538943	148538943	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	19	0	ENST00000296582.3:c.-165A>C		p.*55*	ENST00000296582	NM_018241.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3770.1	.	RADIA|MUSE	.	GCAGAAGACAC	NONE	.	.	.	.	.	ENSP00000296582	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000296582	Transcript	.	.	ENSG00000164168	25587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T184C_HUMAN	TMEM184C	HGNC	.	.	UPI000013E360	SNV	TMEM184C,5_prime_UTR_variant,,ENST00000508208,;TMEM184C,5_prime_UTR_variant,,ENST00000296582,;RP11-425A23.1,upstream_gene_variant,,ENST00000508072,;	410	19	16	SUCCESS
LETM1	3954	.	GRCh37	4	1823931	1823931	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	86	0	ENST00000302787.2:c.1585G>A	p.Ala529Thr	p.A529T	ENST00000302787	NM_012318.2	529	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3355.1	1585	MUTECT|MUSE	.	CGGGGCAGTGT	NONE	.	.	hmmpanther:PTHR14009,hmmpanther:PTHR14009:SF8	.	.	ENSP00000305653	.	10/14	.	.	.	.	.	.	.	.	.	10/14	nonpreferredpair	ENST00000302787	Transcript	1	.	ENSG00000168924	6556	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.653)	.	deleterious(0.05)	.	LETM1_HUMAN	LETM1	HGNC	D3DVQ1_HUMAN	.	UPI0000073989	SNV	LETM1,missense_variant,p.Ala529Thr,ENST00000302787,;LETM1,non_coding_transcript_exon_variant,,ENST00000510940,;LETM1,downstream_gene_variant,,ENST00000511977,;	1882	86	38	SUCCESS
NAAA	27163	.	GRCh37	4	76861223	76861223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	97	0	ENST00000286733.4:c.302G>T	p.Gly101Val	p.G101V	ENST00000286733	NM_014435.3	101	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS43239.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCCGCGG	NONE	.	.	PIRSF_domain:PIRSF017632,Pfam_domain:PF15508	.	.	ENSP00000286733	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000286733	Transcript	.	.	ENSG00000138744	736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	NAAA_HUMAN	NAAA	HGNC	.	.	UPI00001AEAEE	SNV	NAAA,missense_variant,p.Gly101Val,ENST00000507956,;NAAA,missense_variant,p.Gly101Val,ENST00000507187,;NAAA,missense_variant,p.Gly101Val,ENST00000286733,;NAAA,missense_variant,p.Gly101Val,ENST00000399497,;NAAA,5_prime_UTR_variant,,ENST00000505594,;NAAA,upstream_gene_variant,,ENST00000602782,;SDAD1,downstream_gene_variant,,ENST00000502543,;NAAA,non_coding_transcript_exon_variant,,ENST00000507940,;NAAA,non_coding_transcript_exon_variant,,ENST00000503636,;	404	97	54	SUCCESS
FAM47E-STBD1	100631383	.	GRCh37	4	77230589	77230589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	156	0	ENST00000237642.6:c.513G>T	p.Glu171Asp	p.E171D	ENST00000237642	NM_003943.4	171	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3578.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAAGTT	NONE	.	.	hmmpanther:PTHR15048,hmmpanther:PTHR15048:SF0	.	.	ENSP00000237642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000237642	Transcript	.	.	ENSG00000118804	44667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.13)	.	STBD1_HUMAN	FAM47E-STBD1	HGNC	B3KMK8_HUMAN	.	UPI000006DB9D	SNV	FAM47E-STBD1,missense_variant,p.Glu22Asp,ENST00000539752,;FAM47E-STBD1,missense_variant,p.Glu171Asp,ENST00000237642,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514140,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000515604,;CCDC158,downstream_gene_variant,,ENST00000388914,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514365,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;CCDC158,downstream_gene_variant,,ENST00000504667,;	1257	156	100	SUCCESS
ANXA3	306	.	GRCh37	4	79503384	79503384	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	226	0	ENST00000264908.6:c.252G>A	p.Met84Ile	p.M84I	ENST00000264908	NM_005139.2	84	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3584.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGGTGGC	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196,Prints_domain:PR00199	.	.	ENSP00000264908	.	5/13	.	.	.	.	.	.	.	.	.	5/13	nonpreferredpair	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,missense_variant,p.Met84Ile,ENST00000514171,;ANXA3,missense_variant,p.Met45Ile,ENST00000503570,;ANXA3,missense_variant,p.Met45Ile,ENST00000512884,;ANXA3,missense_variant,p.Met84Ile,ENST00000264908,;ANXA3,missense_variant,p.Met84Ile,ENST00000512373,;ANXA3,missense_variant,p.Met84Ile,ENST00000508214,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;	631	226	126	SUCCESS
PSD2	84249	.	GRCh37	5	139193051	139193051	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs768287042	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	42	145	0	ENST00000274710.3:c.529G>T	p.Glu177Ter	p.E177*	ENST00000274710	NM_032289.2	177	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4216.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGAGGCC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	.	ENSP00000274710	.	3/15	.	.	.	.	.	.	.	.	rs768287042	3/15	nonpreferredpair	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,stop_gained,p.Glu177Ter,ENST00000274710,;	734	145	81	SUCCESS
PCDHA11	56138	.	GRCh37	5	140249239	140249239	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	64	0	ENST00000398640.2:c.551C>T	p.Thr184Ile	p.T184I	ENST00000398640	NM_018902.3	184	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS47284.1	551	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACAAATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	COSM322511,COSM322510	1/4	nonpreferredpair	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.222)	.	tolerated_low_confidence(0.09)	1,1	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,missense_variant,p.Thr184Ile,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	551	64	55	SUCCESS
ADRA1B	147	.	GRCh37	5	159343853	159343853	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	45	0	ENST00000306675.3:c.-60C>T		p.*20*	ENST00000306675	NM_000679.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4347.1	.	SOMATICSNIPER|MUTECT|VARSCANS	.	AGGAGCCTTCG	NONE	.	.	.	.	.	ENSP00000306662	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000306675	Transcript	.	.	ENSG00000170214	278	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA1B_HUMAN	ADRA1B	HGNC	.	.	UPI000003B079	SNV	ADRA1B,5_prime_UTR_variant,,ENST00000306675,;	64	45	30	SUCCESS
TENM2	57451	.	GRCh37	5	166711893	166711893	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	102	0	ENST00000518659.1:c.51C>T	p.Gly17=	p.G17=	ENST00000518659	NM_001122679.1	17	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	.	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCAAAGA	NONE	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Pfam_domain:PF06484	.	.	ENSP00000429430	.	1/29	.	.	.	.	.	.	.	.	.	1/29	nonpreferredpair	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,synonymous_variant,p.%3D,ENST00000545108,;TENM2,synonymous_variant,p.%3D,ENST00000518659,;CTB-180C19.1,downstream_gene_variant,,ENST00000521697,;	90	102	59	SUCCESS
GHR	2690	.	GRCh37	5	42713546	42713546	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	257	0	ENST00000230882.4:c.800G>A	p.Trp267Ter	p.W267*	ENST00000230882	NM_001242406.2	267	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS3940.1	800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGGCTCT	NONE	.	.	hmmpanther:PTHR23036:SF74,hmmpanther:PTHR23036,Transmembrane_helices:TMhelix	.	.	ENSP00000230882	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000230882	Transcript	1	.	ENSG00000112964	4263	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GHR_HUMAN	GHR	HGNC	Q9NRZ8_HUMAN,Q9HCW9_HUMAN,F5H7X2_HUMAN	.	UPI000012B416	SNV	GHR,stop_gained,p.Trp267Ter,ENST00000230882,;GHR,stop_gained,p.Trp80Ter,ENST00000537449,;GHR,stop_gained,p.Trp245Ter,ENST00000357703,;GHR,upstream_gene_variant,,ENST00000513625,;GHR,3_prime_UTR_variant,,ENST00000511135,;	990	257	152	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73168941	73168941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	44	187	0	ENST00000426542.2:c.2684C>T	p.Pro895Leu	p.P895L	ENST00000426542		895	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47231.2	2684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCCTGTT	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825,PROSITE_profiles:PS50010	.	.	ENSP00000441913	.	22/37	.	.	.	.	.	.	.	.	.	22/37	nonpreferredpair	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,missense_variant,p.Pro895Leu,ENST00000437974,;ARHGEF28,missense_variant,p.Pro582Leu,ENST00000296799,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000513042,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000287898,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000545377,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000426542,;ARHGEF28,missense_variant,p.Pro895Leu,ENST00000296794,;	2860	188	139	SUCCESS
SYCP2L	221711	.	GRCh37	6	10894136	10894136	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs529185874	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	193	1	ENST00000283141.6:c.115G>T	p.Gly39Ter	p.G39*	ENST00000283141	NM_001040274.2	39	Gga/Tga	0	.	A:0	.	A:0	.	T	G/*	protein_coding	YES	CCDS43423.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAGGATTT	NONE	by1000G	.	hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607	A:0.001	.	ENSP00000283141	A:0	3/30	.	.	.	.	.	.	.	.	rs529185874	3/30	nonpreferredpair	ENST00000283141	Transcript	.	A:0.0002	ENSG00000153157	21537	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SYC2L_HUMAN	SYCP2L	HGNC	.	.	UPI000022CA18	SNV	SYCP2L,stop_gained,p.Gly39Ter,ENST00000283141,;SYCP2L,5_prime_UTR_variant,,ENST00000543878,;SYCP2L,stop_gained,p.Gly39Ter,ENST00000341041,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,upstream_gene_variant,,ENST00000487561,;	411	194	151	SUCCESS
HIST1H4K	0	.	GRCh37	6	27799305	27799305	+	start_lost	Translation_Start_Site	SNP	T	T	G	rs756056656	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	198	0	ENST00000357549.2:c.1A>C	p.Met1?	p.M1?	ENST00000357549	NM_003541.2	1	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS4631.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACATGACGA	NONE	byFrequency	.	hmmpanther:PTHR10484	.	.	ENSP00000350159	.	1/1	.	.	.	.	.	.	.	.	rs756056656,COSM3948910	1/1	nonpreferredpair	ENST00000357549	Transcript	.	.	ENSG00000197914	4784	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	0,1	H4_HUMAN	HIST1H4K	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4K,start_lost,p.Met1?,ENST00000357549,;	1	198	90	SUCCESS
OR2H2	7932	.	GRCh37	6	29556102	29556102	+	synonymous_variant	Silent	SNP	C	C	A	rs1562047505	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	40	172	0	ENST00000383640.2:c.381C>A	p.Pro127=	p.P127=	ENST00000383640	NM_007160.3	127	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34365.1	381	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCTCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000373136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000383640	Transcript	.	.	ENSG00000204657	8253	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2H2_HUMAN	OR2H2	HGNC	.	.	UPI00001404DC	SNV	OR2H2,synonymous_variant,p.%3D,ENST00000383640,;GABBR1,intron_variant,,ENST00000355973,;	420	172	109	SUCCESS
FRS3	10817	.	GRCh37	6	41738386	41738386	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	166	0	ENST00000259748.2:c.1450C>G	p.Arg484Gly	p.R484G	ENST00000259748		484	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS4860.1	1450	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGCCGGGTTT	NONE	.	.	hmmpanther:PTHR21258:SF39,hmmpanther:PTHR21258	.	.	ENSP00000362109	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000373018	Transcript	.	.	ENSG00000137218	16970	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FRS3_HUMAN	FRS3	HGNC	A6PVU0_HUMAN	.	UPI0000073ACA	SNV	FRS3,missense_variant,p.Arg484Gly,ENST00000259748,;FRS3,missense_variant,p.Arg484Gly,ENST00000373018,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,;	1702	166	75	SUCCESS
DLK2	65989	.	GRCh37	6	43418506	43418506	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754440464	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	169	0	ENST00000357338.3:c.923T>C	p.Val308Ala	p.V308A	ENST00000357338	NM_206539.1	308	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS4897.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACCAAG	NONE	byFrequency	.	hmmpanther:PTHR24838:SF277,hmmpanther:PTHR24838,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000349893	.	6/6	.	.	.	.	.	.	.	.	rs754440464	6/6	nonpreferredpair	ENST00000357338	Transcript	.	.	ENSG00000171462	21113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.04)	.	DLK2_HUMAN	DLK2	HGNC	Q5T3U0_HUMAN	.	UPI0000051E36	SNV	DLK2,missense_variant,p.Val308Ala,ENST00000372488,;DLK2,missense_variant,p.Val214Ala,ENST00000430324,;DLK2,missense_variant,p.Val302Ala,ENST00000414245,;DLK2,missense_variant,p.Val302Ala,ENST00000372485,;DLK2,missense_variant,p.Val308Ala,ENST00000357338,;ABCC10,downstream_gene_variant,,ENST00000244533,;ABCC10,downstream_gene_variant,,ENST00000372530,;ABCC10,downstream_gene_variant,,ENST00000505344,;ABCC10,downstream_gene_variant,,ENST00000372512,;ABCC10,downstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000463024,;	1624	169	93	SUCCESS
PLA2G7	7941	.	GRCh37	6	46672428	46672428	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	131	353	0	ENST00000274793.7:c.1195C>G	p.His399Asp	p.H399D	ENST00000274793	NM_005084.3	399	Cat/Gat	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS4917.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATGAAGTC	NONE	.	.	hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF9,Gene3D:3.40.50.1820,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169,Superfamily_domains:SSF53474	.	.	ENSP00000274793	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000274793	Transcript	.	.	ENSG00000146070	9040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	PAFA_HUMAN	PLA2G7	HGNC	.	.	UPI000002FED1	SNV	PLA2G7,missense_variant,p.His399Asp,ENST00000537365,;PLA2G7,missense_variant,p.His399Asp,ENST00000274793,;TDRD6,downstream_gene_variant,,ENST00000316081,;PLA2G7,downstream_gene_variant,,ENST00000538237,;TDRD6,downstream_gene_variant,,ENST00000544460,;TDRD6,downstream_gene_variant,,ENST00000450697,;	1392	353	256	SUCCESS
PGK2	5232	.	GRCh37	6	49753721	49753721	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1206634317	.	TCGA-DD-A115-01	TCGA-DD-A115-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	47	124	0	ENST00000304801.3:c.1180A>T	p.Thr394Ser	p.T394S	ENST00000304801	NM_138733.4	394	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4930.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTGCTGA	BUFFER|p.G396G|c.1188C>T|3	.	.	HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1270,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748,Prints_domain:PR00477	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0.01)	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,missense_variant,p.Thr394Ser,ENST00000304801,;	1333	124	99	SUCCESS
TRPV5	56302	.	GRCh37	7	142612521	142612521	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	38	189	0	ENST00000265310.1:c.1242C>T	p.Arg414=	p.R414=	ENST00000265310	NM_019841.4	414	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5875.1	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGCGAGA	NONE	.	.	hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870	.	.	ENSP00000265310	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,synonymous_variant,p.%3D,ENST00000439304,;TRPV5,synonymous_variant,p.%3D,ENST00000265310,;	1591	189	100	SUCCESS
CREB5	9586	.	GRCh37	7	28547332	28547332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	80	0	ENST00000357727.2:c.268C>A	p.Gln90Lys	p.Q90K	ENST00000357727	NM_182898.2	90	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5417.1	268	RADIA|VARSCANS	.	AGGCTCAGGAA	NONE	.	.	hmmpanther:PTHR19304:SF8,hmmpanther:PTHR19304,PIRSF_domain:PIRSF003153	.	.	ENSP00000350359	.	4/11	.	.	.	.	.	.	.	.	.	4/11	nonpreferredpair	ENST00000357727	Transcript	.	.	ENSG00000146592	16844	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.84)	.	tolerated(0.51)	.	CREB5_HUMAN	CREB5	HGNC	H9KVC5_HUMAN,C9JN33_HUMAN	.	UPI0000457534	SNV	CREB5,missense_variant,p.Gln83Lys,ENST00000424599,;CREB5,missense_variant,p.Gln57Lys,ENST00000409603,;CREB5,missense_variant,p.Gln90Lys,ENST00000357727,;CREB5,missense_variant,p.Gln57Lys,ENST00000396299,;CREB5,missense_variant,p.Gln83Lys,ENST00000396300,;CREB5,non_coding_transcript_exon_variant,,ENST00000469531,;	658	80	57	SUCCESS
CARD11	84433	.	GRCh37	7	2984169	2984169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	66	0	ENST00000396946.4:c.361G>C	p.Glu121Gln	p.E121Q	ENST00000396946	NM_032415.4	121	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5336.2	361	MUTECT|MUSE	.	TTCCTCCACTG	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	5/25	.	.	.	.	.	.	.	.	.	5/25	nonpreferredpair	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Glu121Gln,ENST00000396946,;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,intron_variant,,ENST00000423194,;	765	66	25	SUCCESS
ABCA13	154664	.	GRCh37	7	48311639	48311639	+	synonymous_variant	Silent	SNP	A	A	G	rs758110820	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	122	1	ENST00000435803.1:c.2376A>G	p.Lys792=	p.K792=	ENST00000435803	NM_152701.3	792	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47584.1	2376	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAACTCTT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	rs758110820,COSM3881481,COSM3881480	17/62	nonpreferredpair	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	2400	123	72	SUCCESS
YWHAZ	7534	.	GRCh37	8	101960838	101960838	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	9	176	0	ENST00000353245.3:c.280T>A	p.Cys94Ser	p.C94S	ENST00000353245	NM_003406.3	94	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS6290.1	280	MUTECT|MUSE	.	ATTGCAGATAT	NONE	.	.	hmmpanther:PTHR18860:SF5,hmmpanther:PTHR18860,Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,SMART_domains:SM00101,Superfamily_domains:SSF48445,Prints_domain:PR00305	.	.	ENSP00000379287	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000395957	Transcript	.	.	ENSG00000164924	12855	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0.02)	.	1433Z_HUMAN	YWHAZ	HGNC	Q6LD62_HUMAN,Q2F831_HUMAN,H0YB80_HUMAN,E9PD24_HUMAN,E7EVZ2_HUMAN,E7ESK7_HUMAN,E5RIR4_HUMAN,E5RGE1_HUMAN,D0PNI1_HUMAN,B7Z2E6_HUMAN,B0AZS6_HUMAN	.	UPI000003300D	SNV	YWHAZ,missense_variant,p.Cys94Ser,ENST00000419477,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395957,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000521328,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395951,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395958,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000418997,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000521607,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395956,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000395953,;YWHAZ,missense_variant,p.Cys17Ser,ENST00000395948,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000457309,;YWHAZ,missense_variant,p.Cys94Ser,ENST00000353245,;YWHAZ,intron_variant,,ENST00000521309,;YWHAZ,downstream_gene_variant,,ENST00000437293,;YWHAZ,downstream_gene_variant,,ENST00000523938,;YWHAZ,downstream_gene_variant,,ENST00000523131,;YWHAZ,upstream_gene_variant,,ENST00000522542,;YWHAZ,downstream_gene_variant,,ENST00000492736,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000518736,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000517727,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000480304,;	622	176	133	SUCCESS
SLC10A5	347051	.	GRCh37	8	82606130	82606130	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	105	0	ENST00000518568.1:c.1078C>T	p.Leu360=	p.L360=	ENST00000518568	NM_001010893.2	360	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34915.1	1078	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGCGTAC	NONE	.	.	hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF29	.	.	ENSP00000428612	.	1/1	.	.	.	.	.	.	.	.	COSM1101998	1/1	nonpreferredpair	ENST00000518568	Transcript	.	.	ENSG00000253598	22981	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NTCP5_HUMAN	SLC10A5	HGNC	.	.	UPI0000051F68	SNV	SLC10A5,synonymous_variant,p.%3D,ENST00000518568,;	2280	105	40	SUCCESS
SARDH	1757	.	GRCh37	9	136582451	136582451	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763885261	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	47	0	ENST00000371872.4:c.1147C>A	p.Pro383Thr	p.P383T	ENST00000371872	NM_007101.3	383	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6978.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGGCCGC	NONE	.	.	hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000360938	.	8/21	.	.	.	.	.	.	.	.	rs763885261	8/21	nonpreferredpair	ENST00000371872	Transcript	.	.	ENSG00000123453	10536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	SARDH_HUMAN	SARDH	HGNC	Q5SYV1_HUMAN,B4DPI2_HUMAN	.	UPI000006F076	SNV	SARDH,missense_variant,p.Pro383Thr,ENST00000439388,;SARDH,missense_variant,p.Pro383Thr,ENST00000371872,;SARDH,missense_variant,p.Pro383Thr,ENST00000427237,;SARDH,missense_variant,p.Pro215Thr,ENST00000422262,;SARDH,downstream_gene_variant,,ENST00000371867,;	1405	47	29	SUCCESS
LINGO2	158038	.	GRCh37	9	27949442	27949442	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199551773	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	13	169	0	ENST00000308675.3:c.1228C>A	p.Pro410Thr	p.P410T	ENST00000308675		410	Ccc/Acc	0	A:0	.	.	.	.	T	P/T	protein_coding	YES	CCDS6524.1	1228	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGTTTTT	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	A:0.0002	ENSP00000369328	.	6/6	.	.	.	.	.	.	.	.	rs199551773,COSM245447,COSM245448	6/6	nonpreferredpair	ENST00000379992	Transcript	.	.	ENSG00000174482	21207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	LIGO2_HUMAN	LINGO2	HGNC	.	.	UPI000004C7CD	SNV	LINGO2,missense_variant,p.Pro410Thr,ENST00000308675,;LINGO2,missense_variant,p.Pro410Thr,ENST00000379992,;RP11-438B23.2,upstream_gene_variant,,ENST00000566293,;	1678	169	91	SUCCESS
DAPK1	1612	.	GRCh37	9	90272970	90272970	+	synonymous_variant	Silent	SNP	G	G	A	rs777677048	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	48	0	ENST00000358077.5:c.1851G>A	p.Ala617=	p.A617=	ENST00000358077	NM_001288731.1	617	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43842.1	1851	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CTTGCGGCCAA	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000386135	.	18/26	.	.	.	.	.	.	.	.	rs777677048	18/26	nonpreferredpair	ENST00000408954	Transcript	.	.	ENSG00000196730	2674	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	SNV	DAPK1,synonymous_variant,p.%3D,ENST00000358077,;DAPK1,synonymous_variant,p.%3D,ENST00000491893,;DAPK1,synonymous_variant,p.%3D,ENST00000408954,;DAPK1,synonymous_variant,p.%3D,ENST00000469640,;DAPK1,synonymous_variant,p.%3D,ENST00000472284,;DAPK1,non_coding_transcript_exon_variant,,ENST00000466188,;DAPK1,non_coding_transcript_exon_variant,,ENST00000494010,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;	2186	48	13	SUCCESS
NRK	203447	.	GRCh37	X	105152837	105152837	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	96	0	ENST00000243300.9:c.1204C>A	p.Gln402Lys	p.Q402K	ENST00000243300	NM_198465.2	402	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	.	1207	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACAGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF216	.	.	ENSP00000438378	.	13/29	.	.	.	.	.	.	.	.	.	13/29	nonpreferredpair	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.104)	.	tolerated(0.08)	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,missense_variant,p.Gln403Lys,ENST00000428173,;NRK,missense_variant,p.Gln402Lys,ENST00000243300,;	1510	96	57	SUCCESS
TAF1	6872	.	GRCh37	X	70680629	70680629	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	57	94	0	ENST00000373790.4:c.5372A>G	p.His1791Arg	p.H1791R	ENST00000373790	NM_004606.3	1791	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14412.1	5435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATGGTT	NONE	.	.	PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	37/38	.	.	.	.	.	.	.	.	.	37/38	nonpreferredpair	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.21)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.His1791Arg,ENST00000373790,;TAF1,missense_variant,p.His1812Arg,ENST00000276072,;TAF1,missense_variant,p.His1814Arg,ENST00000423759,;TAF1,missense_variant,p.His1825Arg,ENST00000449580,;TAF1,non_coding_transcript_exon_variant,,ENST00000492404,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000461157,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000467309,;TAF1,non_coding_transcript_exon_variant,,ENST00000482544,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,missense_variant,p.His480Arg,ENST00000437147,;TAF1,missense_variant,p.His448Arg,ENST00000373775,;	5445	94	75	SUCCESS
SMC3	9126	.	GRCh37	10	112343665	112343665	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	90	221	0	ENST00000361804.4:c.1036G>A	p.Glu346Lys	p.E346K	ENST00000361804	NM_005445.3	346	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31285.1	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAGAAACA	BUFFER|p.E343G|c.1028A>G|3	.	.	Pfam_domain:PF02463,hmmpanther:PTHR18937:SF164,hmmpanther:PTHR18937,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000354720	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000361804	Transcript	1	.	ENSG00000108055	2468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.241)	.	tolerated(0.4)	.	SMC3_HUMAN	SMC3	HGNC	.	.	UPI0000135A8D	SNV	SMC3,missense_variant,p.Glu346Lys,ENST00000361804,;SMC3,downstream_gene_variant,,ENST00000462899,;	1162	221	280	SUCCESS
ATRNL1	26033	.	GRCh37	10	117228753	117228753	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	158	0	ENST00000355044.3:c.3568T>C	p.Ser1190Pro	p.S1190P	ENST00000355044	NM_207303.2	1190	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS7592.1	3568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTCCTAT	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Ser241Pro,ENST00000423111,;ATRNL1,missense_variant,p.Ser1190Pro,ENST00000355044,;ATRNL1,intron_variant,,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000424738,;ATRNL1,intron_variant,,ENST00000534530,;	3694	158	73	SUCCESS
TACC2	10579	.	GRCh37	10	123971198	123971200	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	rs763225454	.	TCGA-DD-A116-01	TCGA-DD-A116-11	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	85	0	ENST00000334433.3:c.7268_7270del	p.Lys2423del	p.K2423del	ENST00000334433		2420	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS7626.1	7258-7260	INDELOCATOR|VARSCANI	.	CCCGCCAAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	9/23	.	.	.	.	.	.	.	.	rs763225454	9/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	10	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	deletion	TACC2,inframe_deletion,p.Lys501del,ENST00000368999,;TACC2,inframe_deletion,p.Lys569del,ENST00000358010,;TACC2,inframe_deletion,p.Lys2427del,ENST00000453444,;TACC2,inframe_deletion,p.Lys501del,ENST00000260733,;TACC2,inframe_deletion,p.Lys2423del,ENST00000369005,;TACC2,inframe_deletion,p.Lys2423del,ENST00000334433,;TACC2,inframe_deletion,p.Lys151del,ENST00000505639,;TACC2,inframe_deletion,p.Lys2378del,ENST00000515603,;TACC2,inframe_deletion,p.Lys501del,ENST00000369004,;TACC2,inframe_deletion,p.Lys518del,ENST00000514539,;TACC2,inframe_deletion,p.Lys162del,ENST00000496913,;TACC2,inframe_deletion,p.Lys569del,ENST00000513429,;TACC2,inframe_deletion,p.Lys127del,ENST00000369000,;TACC2,inframe_deletion,p.Lys501del,ENST00000360561,;TACC2,inframe_deletion,p.Lys2427del,ENST00000515273,;TACC2,inframe_deletion,p.Lys127del,ENST00000369001,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000492237,;TACC2,downstream_gene_variant,,ENST00000493951,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;TACC2,intron_variant,,ENST00000440764,;	7598-7600	85	100	SUCCESS
KNDC1	85442	.	GRCh37	10	135025348	135025348	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201175312	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	31	0	ENST00000304613.3:c.4222G>T	p.Gly1408Cys	p.G1408C	ENST00000304613		1408	Ggc/Tgc	0	A:0	.	.	.	.	T	G/C	protein_coding	YES	CCDS7674.1	4222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGGCATC	NONE	byCluster	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	.	A:0.0001	ENSP00000304437	.	23/30	.	.	.	.	.	.	.	.	rs201175312	23/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Gly1408Cys,ENST00000304613,;KNDC1,missense_variant,p.Gly1410Cys,ENST00000368572,;KNDC1,downstream_gene_variant,,ENST00000368571,;	4243	31	30	SUCCESS
VIM	7431	.	GRCh37	10	17277863	17277863	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	210	137	321	0	ENST00000224237.5:c.1248A>T	p.Pro416=	p.P416=	ENST00000224237		416	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7120.1	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAAACTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF27,hmmpanther:PTHR23239	.	.	ENSP00000446007	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,synonymous_variant,p.%3D,ENST00000224237,;VIM,synonymous_variant,p.%3D,ENST00000544301,;VIM,downstream_gene_variant,,ENST00000421459,;RP11-124N14.3,upstream_gene_variant,,ENST00000456355,;VIM,downstream_gene_variant,,ENST00000485947,;VIM,downstream_gene_variant,,ENST00000495528,;VIM,synonymous_variant,p.%3D,ENST00000487938,;VIM,3_prime_UTR_variant,,ENST00000469543,;	1661	321	348	SUCCESS
SVILP1	0	.	GRCh37	10	30986388	30986388	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	46	103	0	ENST00000422642.1:n.1007C>T		p.*336*	ENST00000422642				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCACTGC	NONE	.	.	.	.	.	.	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000422642	Transcript	.	.	ENSG00000234814	44959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SVILP1	HGNC	.	.	.	SNV	SVILP1,non_coding_transcript_exon_variant,,ENST00000435645,;SVILP1,non_coding_transcript_exon_variant,,ENST00000429171,;SVILP1,non_coding_transcript_exon_variant,,ENST00000422642,;	1007	103	138	SUCCESS
OR13A1	79290	.	GRCh37	10	45799377	45799377	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746984923	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	17	0	ENST00000374401.2:c.494C>A	p.Ala165Asp	p.A165D	ENST00000374401		165	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS31188.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGGCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF81,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000451950	.	4/4	.	.	.	.	.	.	.	.	rs746984923	4/4	PASS	ENST00000553795	Transcript	.	.	ENSG00000256574	14772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	tolerated(0.08)	.	O13A1_HUMAN	OR13A1	HGNC	.	.	UPI000003FE0F	SNV	OR13A1,missense_variant,p.Ala165Asp,ENST00000374401,;OR13A1,missense_variant,p.Ala165Asp,ENST00000553795,;OR13A1,missense_variant,p.Ala165Asp,ENST00000536058,;	803	17	22	SUCCESS
LRRC18	474354	.	GRCh37	10	50122143	50122143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	66	0	ENST00000298124.3:c.58A>G	p.Asn20Asp	p.N20D	ENST00000298124		20	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS31197.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATTCCTGG	NONE	.	.	.	.	.	ENSP00000363275	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000374160	Transcript	.	.	ENSG00000165383	23199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious(0.04)	.	LRC18_HUMAN	LRRC18	HGNC	.	.	UPI00001F98A9	SNV	LRRC18,missense_variant,p.Asn20Asp,ENST00000298124,;LRRC18,missense_variant,p.Asn20Asp,ENST00000374160,;WDFY4,intron_variant,,ENST00000413659,;WDFY4,intron_variant,,ENST00000325239,;WDFY4,intron_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	135	66	51	SUCCESS
USP47	55031	.	GRCh37	11	11927068	11927068	+	synonymous_variant	Silent	SNP	T	T	C	rs748072362	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	80	206	0	ENST00000399455.2:c.1002T>C	p.Tyr334=	p.Y334=	ENST00000399455		334	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS41619.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATGGGTC	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,Gene3D:1nbfA02,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF98,PROSITE_profiles:PS50235	.	.	ENSP00000339957	.	7/27	.	.	.	.	.	.	.	.	rs748072362	7/27	PASS	ENST00000339865	Transcript	.	.	ENSG00000170242	20076	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP47_HUMAN	USP47	HGNC	.	.	UPI00001F9D69	SNV	USP47,synonymous_variant,p.%3D,ENST00000399455,;USP47,synonymous_variant,p.%3D,ENST00000527733,;USP47,synonymous_variant,p.%3D,ENST00000339865,;USP47,5_prime_UTR_variant,,ENST00000539466,;	1501	206	208	SUCCESS
OR4D9	390199	.	GRCh37	11	59282556	59282556	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	386	15	346	0	ENST00000329328.3:c.171G>A	p.Thr57=	p.T57=	ENST00000329328	NM_001004711.1	57	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31564.1	171	MUTECT|MUSE	.	CATACGCCCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF272,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000328563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329328	Transcript	.	.	ENSG00000172742	15178	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR4D9_HUMAN	OR4D9	HGNC	.	.	UPI0000061EE8	SNV	OR4D9,synonymous_variant,p.%3D,ENST00000329328,;	171	346	401	SUCCESS
C11orf84	0	.	GRCh37	11	63585307	63585307	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs779268016	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	99	0	ENST00000294244.4:c.158G>C	p.Arg53Thr	p.R53T	ENST00000294244	NM_138471.1	53	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS31594.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTAGACCCA	NONE	byFrequency	.	.	.	.	ENSP00000294244	.	2/6	.	.	.	.	.	.	.	.	rs779268016	2/6	PASS	ENST00000294244	Transcript	.	.	ENSG00000168005	25115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0.01)	.	CK084_HUMAN	C11orf84	HGNC	.	.	UPI00001BDB3C	SNV	C11orf84,missense_variant,p.Arg53Thr,ENST00000294244,;C11orf84,upstream_gene_variant,,ENST00000535820,;C11orf84,upstream_gene_variant,,ENST00000540893,;	457	99	82	SUCCESS
MAP4K2	5871	.	GRCh37	11	64564456	64564456	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	120	1	ENST00000294066.2:c.1405C>A	p.His469Asn	p.H469N	ENST00000294066	NM_004579.3	469	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS8082.1	1405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATGCACCT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,PIRSF_domain:PIRSF038172	.	.	ENSP00000294066	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.09)	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,missense_variant,p.His461Asn,ENST00000377350,;MAP4K2,missense_variant,p.His469Asn,ENST00000294066,;MAP4K2,downstream_gene_variant,,ENST00000439069,;MAP4K2,downstream_gene_variant,,ENST00000493428,;MAP4K2,downstream_gene_variant,,ENST00000468062,;MAP4K2,downstream_gene_variant,,ENST00000482314,;MAP4K2,splice_region_variant,,ENST00000489952,;MAP4K2,splice_region_variant,,ENST00000435926,;MAP4K2,splice_region_variant,,ENST00000470088,;MAP4K2,splice_region_variant,,ENST00000433890,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000467689,;MAP4K2,upstream_gene_variant,,ENST00000424945,;MAP4K2,downstream_gene_variant,,ENST00000444560,;	1497	121	116	SUCCESS
LTBP3	4054	.	GRCh37	11	65320914	65320914	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	55	119	0	ENST00000301873.5:c.952A>C	p.Lys318Gln	p.K318Q	ENST00000301873	NM_001130144.2	318	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS44647.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTTGTGGC	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35,Pfam_domain:PF00683,Gene3D:3.90.290.10,Superfamily_domains:SSF57581	.	.	ENSP00000301873	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000301873	Transcript	.	.	ENSG00000168056	6716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.24)	.	LTBP3_HUMAN	LTBP3	HGNC	Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN	.	UPI00003667EB	SNV	LTBP3,missense_variant,p.Lys318Gln,ENST00000301873,;LTBP3,missense_variant,p.Lys229Gln,ENST00000530866,;LTBP3,missense_variant,p.Lys39Gln,ENST00000530426,;LTBP3,missense_variant,p.Lys318Gln,ENST00000322147,;LTBP3,intron_variant,,ENST00000526927,;LTBP3,intron_variant,,ENST00000536982,;LTBP3,upstream_gene_variant,,ENST00000532932,;LTBP3,3_prime_UTR_variant,,ENST00000526825,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,intron_variant,,ENST00000524798,;LTBP3,upstream_gene_variant,,ENST00000527792,;LTBP3,upstream_gene_variant,,ENST00000529764,;LTBP3,upstream_gene_variant,,ENST00000528966,;	1221	119	135	SUCCESS
KAT5	10524	.	GRCh37	11	65479708	65479708	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	39	74	0	ENST00000377046.3:c.-28del		p.*10*	ENST00000377046	NM_006388.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8110.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCAGAGGGGCC	NONE	.	.	.	.	.	ENSP00000340330	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000341318	Transcript	.	.	ENSG00000172977	5275	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAT5_HUMAN	KAT5	HGNC	E9PMG8_HUMAN,E9PJI1_HUMAN	.	UPI00001D3EFB	deletion	KAT5,5_prime_UTR_variant,,ENST00000352980,;KAT5,5_prime_UTR_variant,,ENST00000341318,;KAT5,5_prime_UTR_variant,,ENST00000377046,;KAT5,upstream_gene_variant,,ENST00000530446,;KAT5,upstream_gene_variant,,ENST00000531880,;KAT5,upstream_gene_variant,,ENST00000534650,;KAT5,upstream_gene_variant,,ENST00000528198,;KAT5,upstream_gene_variant,,ENST00000530605,;KAT5,upstream_gene_variant,,ENST00000534104,;KAT5,upstream_gene_variant,,ENST00000534681,;KAT5,upstream_gene_variant,,ENST00000525204,;KAT5,upstream_gene_variant,,ENST00000534293,;KAT5,non_coding_transcript_exon_variant,,ENST00000532042,;KAT5,upstream_gene_variant,,ENST00000527544,;KAT5,upstream_gene_variant,,ENST00000533441,;RNASEH2C,downstream_gene_variant,,ENST00000534482,;	204	74	124	SUCCESS
RAB1B	81876	.	GRCh37	11	66039979	66039979	+	intron_variant	Intron	SNP	C	C	T	rs548760342	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	73	0	ENST00000311481.6:c.279+48C>T		p.*93*	ENST00000311481	NM_030981.2			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS31613.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCTTTGA	NONE	by1000G	.	.	T:0	.	ENSP00000310226	T:0	.	.	.	.	.	.	.	.	.	rs548760342	.	PASS	ENST00000311481	Transcript	.	T:0.0002	ENSG00000174903	18370	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RAB1B_HUMAN	RAB1B	HGNC	Q92927_HUMAN	.	UPI0000037B58	SNV	RAB1B,intron_variant,,ENST00000311481,;RAB1B,intron_variant,,ENST00000527397,;KLC2,downstream_gene_variant,,ENST00000316924,;KLC2,downstream_gene_variant,,ENST00000394078,;KLC2,downstream_gene_variant,,ENST00000417856,;KLC2,downstream_gene_variant,,ENST00000394066,;KLC2,downstream_gene_variant,,ENST00000394067,;KLC2,downstream_gene_variant,,ENST00000394065,;KLC2,downstream_gene_variant,,ENST00000421552,;RP11-867G23.3,non_coding_transcript_exon_variant,,ENST00000501708,;RP11-867G23.2,upstream_gene_variant,,ENST00000533287,;RP11-867G23.4,downstream_gene_variant,,ENST00000526951,;RP11-867G23.4,downstream_gene_variant,,ENST00000528650,;	.	73	76	SUCCESS
TBX10	347853	.	GRCh37	11	67399113	67399113	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756186322	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	27	0	ENST00000335385.3:c.1121C>T	p.Thr374Ile	p.T374I	ENST00000335385	NM_005995.4	374	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31621.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGTGGGG	NONE	.	.	.	.	.	ENSP00000335191	.	8/8	.	.	.	.	.	.	.	.	rs756186322	8/8	PASS	ENST00000335385	Transcript	.	.	ENSG00000167800	11593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious_low_confidence(0)	.	TBX10_HUMAN	TBX10	HGNC	.	.	UPI000017DA69	SNV	TBX10,missense_variant,p.Thr374Ile,ENST00000335385,;NUDT8,upstream_gene_variant,,ENST00000301490,;NUDT8,upstream_gene_variant,,ENST00000376693,;RP11-655M14.13,upstream_gene_variant,,ENST00000533311,;NUDT8,upstream_gene_variant,,ENST00000534054,;	1209	27	42	SUCCESS
NUMA1	4926	.	GRCh37	11	71726209	71726220	+	frameshift_variant	Frame_Shift_Del	DEL	AGCCTGATGGGC	AGCCTGATGGGC	CG	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	AGCCTGATGGGC	AGCCTGATGGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	44	0	ENST00000393695.3:c.2329_2340delinsCG	p.Ala777ArgfsTer31	p.A777Rfs*31	ENST00000393695	NM_006185.2	777	GCCCATCAGGCT/CG	0	.	.	.	.	.	CG	AHQA/X	protein_coding	YES	CCDS31633.1	2329-2340	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	AGTCTCAGCCTGATGGGCCTCCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	.	.	ENSP00000377298	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000393695	Transcript	.	.	ENSG00000137497	8059	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUMA1_HUMAN	NUMA1	HGNC	Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN	.	UPI000013DB8B	substitution	NUMA1,frameshift_variant,p.Ala777ArgfsTer31,ENST00000393695,;NUMA1,frameshift_variant,p.Ala777ArgfsTer31,ENST00000542977,;NUMA1,frameshift_variant,p.Ala777ArgfsTer31,ENST00000358965,;NUMA1,intron_variant,,ENST00000351960,;NUMA1,downstream_gene_variant,,ENST00000537930,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000544238,;NUMA1,downstream_gene_variant,,ENST00000543009,;NUMA1,downstream_gene_variant,,ENST00000537217,;NUMA1,downstream_gene_variant,,ENST00000543937,;RP11-849H4.4,non_coding_transcript_exon_variant,,ENST00000502284,;NUMA1,downstream_gene_variant,,ENST00000540843,;NUMA1,downstream_gene_variant,,ENST00000534987,;NUMA1,downstream_gene_variant,,ENST00000536119,;NUMA1,upstream_gene_variant,,ENST00000545721,;NUMA1,upstream_gene_variant,,ENST00000540588,;	2661-2672	44	37	SUCCESS
SYTL2	54843	.	GRCh37	11	85436897	85436897	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	269	143	397	0	ENST00000528231.1:c.1459+2042T>C		p.*487*	ENST00000528231	NM_001162951.1	201		0	.	.	.	.	.	G	N	protein_coding	YES	CCDS31651.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTATTTTC	NONE	.	.	hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024	.	.	ENSP00000346576	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000354566	Transcript	.	.	ENSG00000137501	15585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTL2_HUMAN	SYTL2	HGNC	Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN	.	UPI0000352C78	SNV	SYTL2,synonymous_variant,p.%3D,ENST00000359152,;SYTL2,synonymous_variant,p.%3D,ENST00000525423,;SYTL2,synonymous_variant,p.%3D,ENST00000354566,;SYTL2,intron_variant,,ENST00000528231,;SYTL2,intron_variant,,ENST00000389960,;SYTL2,intron_variant,,ENST00000527523,;SYTL2,intron_variant,,ENST00000524452,;SYTL2,intron_variant,,ENST00000316356,;SYTL2,upstream_gene_variant,,ENST00000530351,;SYTL2,synonymous_variant,p.%3D,ENST00000389959,;	615	397	413	SUCCESS
C11orf73	0	.	GRCh37	11	86055960	86055960	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	25	0	ENST00000278483.3:c.539+197A>C		p.*180*	ENST00000278483	NM_016401.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8275.1	.	MUTECT|MUSE	.	TCGCCATTATG	NONE	.	.	.	.	.	ENSP00000278483	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278483	Transcript	.	.	ENSG00000149196	26938	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HIKES_HUMAN	C11orf73	HGNC	.	.	UPI000006CF46	SNV	C11orf73,3_prime_UTR_variant,,ENST00000533986,;C11orf73,intron_variant,,ENST00000278483,;C11orf73,intron_variant,,ENST00000530208,;C11orf73,intron_variant,,ENST00000531485,;C11orf73,3_prime_UTR_variant,,ENST00000528004,;C11orf73,intron_variant,,ENST00000529405,;	.	25	9	SUCCESS
SESN3	143686	.	GRCh37	11	94918494	94918494	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	187	0	ENST00000536441.1:c.688A>G	p.Asn230Asp	p.N230D	ENST00000536441	NM_144665.3	230	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS8303.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTTGACTG	NONE	.	.	hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474,Pfam_domain:PF04636	.	.	ENSP00000441927	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000536441	Transcript	.	.	ENSG00000149212	23060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	tolerated(0.38)	.	SESN3_HUMAN	SESN3	HGNC	.	.	UPI0000135891	SNV	SESN3,missense_variant,p.Asn230Asp,ENST00000393234,;SESN3,missense_variant,p.Asn230Asp,ENST00000416495,;SESN3,missense_variant,p.Asn91Asp,ENST00000278499,;SESN3,missense_variant,p.Asn230Asp,ENST00000536441,;RP11-712B9.2,intron_variant,,ENST00000534864,;RP11-712B9.2,intron_variant,,ENST00000534891,;	1025	187	118	SUCCESS
UBE3B	89910	.	GRCh37	12	109939174	109939174	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	57	0	ENST00000342494.3:c.1119-2A>G		p.X373_splice	ENST00000342494	NM_130466.3	373		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9129.1	.	RADIA|VARSCANS	.	CTCCTAGCCTT	NONE	.	.	.	.	.	ENSP00000340596	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342494	Transcript	.	.	ENSG00000151148	13478	.	.	HIGH	12/27	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBE3B_HUMAN	UBE3B	HGNC	F5H5T5_HUMAN	.	UPI000013DC3B	SNV	UBE3B,splice_acceptor_variant,,ENST00000280774,;UBE3B,splice_acceptor_variant,,ENST00000342494,;UBE3B,splice_acceptor_variant,,ENST00000434735,;UBE3B,splice_acceptor_variant,,ENST00000539599,;UBE3B,upstream_gene_variant,,ENST00000535900,;UBE3B,splice_acceptor_variant,,ENST00000449510,;	.	57	37	SUCCESS
GIT2	9815	.	GRCh37	12	110385195	110385195	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	87	234	1	ENST00000355312.3:c.1507A>G	p.Arg503Gly	p.R503G	ENST00000355312	NM_057169.3	503	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS9138.1	1507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCTCTTTA	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF215	.	.	ENSP00000347464	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000355312	Transcript	.	.	ENSG00000139436	4273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	tolerated(0.31)	.	GIT2_HUMAN	GIT2	HGNC	.	.	UPI000012B4C5	SNV	GIT2,missense_variant,p.Arg503Gly,ENST00000361006,;GIT2,missense_variant,p.Arg455Gly,ENST00000457474,;GIT2,missense_variant,p.Arg503Gly,ENST00000355312,;GIT2,missense_variant,p.Arg452Gly,ENST00000551209,;GIT2,missense_variant,p.Arg441Gly,ENST00000550186,;GIT2,missense_variant,p.Arg423Gly,ENST00000343646,;GIT2,missense_variant,p.Arg455Gly,ENST00000354574,;GIT2,missense_variant,p.Arg453Gly,ENST00000360185,;GIT2,3_prime_UTR_variant,,ENST00000547815,;GIT2,intron_variant,,ENST00000356259,;GIT2,intron_variant,,ENST00000338373,;GIT2,intron_variant,,ENST00000553118,;GIT2,downstream_gene_variant,,ENST00000320063,;TCHP,intron_variant,,ENST00000550780,;GIT2,upstream_gene_variant,,ENST00000548000,;GIT2,non_coding_transcript_exon_variant,,ENST00000549999,;TCHP,intron_variant,,ENST00000544838,;GIT2,downstream_gene_variant,,ENST00000551455,;	1507	235	252	SUCCESS
PPP1CC	5501	.	GRCh37	12	111162541	111162541	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	277	33	249	0	ENST00000335007.5:c.447G>A	p.Trp149Ter	p.W149*	ENST00000335007	NM_002710.3	149	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS58279.1	447	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCCATAG	NONE	.	.	Superfamily_domains:SSF56300,SMART_domains:SM00156,Pfam_domain:PF00149,Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207	.	.	ENSP00000341779	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000340766	Transcript	.	.	ENSG00000186298	9283	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PP1G_HUMAN	PPP1CC	HGNC	Q9UPN1_HUMAN,C4TNW6_HUMAN,C4TNW5_HUMAN	.	UPI000002B16F	SNV	PPP1CC,stop_gained,p.Trp149Ter,ENST00000551676,;PPP1CC,stop_gained,p.Trp149Ter,ENST00000340766,;PPP1CC,stop_gained,p.Trp149Ter,ENST00000550991,;PPP1CC,stop_gained,p.Trp149Ter,ENST00000335007,;PPP1CC,stop_gained,p.Trp158Ter,ENST00000546933,;PPP1CC,upstream_gene_variant,,ENST00000551582,;PPP1CC,non_coding_transcript_exon_variant,,ENST00000553024,;PPP1CC,intron_variant,,ENST00000550261,;PPP1CC,upstream_gene_variant,,ENST00000546904,;	679	249	311	SUCCESS
NOS1	4842	.	GRCh37	12	117696926	117696926	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753615929	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	53	128	0	ENST00000317775.6:c.2377A>G	p.Met793Val	p.M793V	ENST00000317775	NM_000620.4	793	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS55890.1	2377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGGACA	BUFFER|p.Y796H|c.2386T>C|8	byFrequency	.	Superfamily_domains:SSF52218,PIRSF_domain:PIRSF000333,Pfam_domain:PF00258,Gene3D:3.40.50.360,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,PROSITE_profiles:PS50902	.	.	ENSP00000337459	.	14/29	.	.	.	.	.	.	.	.	rs753615929	14/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Met793Val,ENST00000317775,;NOS1,missense_variant,p.Met793Val,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	2382	128	142	SUCCESS
ERC1	23085	.	GRCh37	12	1517402	1517402	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs745461100	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	37	0	ENST00000360905.4:c.3013T>A	p.Ser1005Thr	p.S1005T	ENST00000360905		1005	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS8508.1	3013	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTCCCCA	NONE	byFrequency	.	hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1	.	.	ENSP00000380386	.	17/19	.	.	.	.	.	.	.	.	rs745461100	17/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.863)	.	deleterious_low_confidence(0)	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,missense_variant,p.Ser1009Thr,ENST00000546231,;ERC1,missense_variant,p.Ser1005Thr,ENST00000360905,;ERC1,missense_variant,p.Ser1005Thr,ENST00000589028,;ERC1,missense_variant,p.Ser1005Thr,ENST00000397203,;ERC1,missense_variant,p.Ser977Thr,ENST00000543086,;ERC1,missense_variant,p.Ser1005Thr,ENST00000355446,;ERC1,missense_variant,p.Ser16Thr,ENST00000539802,;ERC1,missense_variant,p.Ser274Thr,ENST00000588412,;ERC1,missense_variant,p.Ser709Thr,ENST00000545948,;ERC1,missense_variant,p.Ser965Thr,ENST00000542302,;ERC1,missense_variant,p.Ser981Thr,ENST00000440394,;ERC1,missense_variant,p.Ser937Thr,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;	3419	37	56	SUCCESS
SLC2A13	114134	.	GRCh37	12	40499574	40499574	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	15	0	ENST00000280871.4:c.37C>G	p.Leu13Val	p.L13V	ENST00000280871	NM_052885.3	13	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS8736.2	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGCGTGT	NONE	.	.	hmmpanther:PTHR24063:SF303,hmmpanther:PTHR24063	.	.	ENSP00000280871	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000280871	Transcript	.	.	ENSG00000151229	15956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.132)	.	deleterious_low_confidence(0)	.	MYCT_HUMAN	SLC2A13	HGNC	.	.	UPI000066D913	SNV	SLC2A13,missense_variant,p.Leu13Val,ENST00000380858,;SLC2A13,missense_variant,p.Leu13Val,ENST00000280871,;	88	15	42	SUCCESS
ACVRL1	94	.	GRCh37	12	52307800	52307800	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	67	128	0	ENST00000388922.4:c.568C>T	p.Leu190Phe	p.L190F	ENST00000388922	NM_000020.2	190	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31804.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCTCCCC	NONE	.	.	PROSITE_profiles:PS51256,hmmpanther:PTHR23255:SF59,hmmpanther:PTHR23255,Pfam_domain:PF08515,Gene3D:3.30.200.20,SMART_domains:SM00467,Superfamily_domains:SSF56112	.	.	ENSP00000373574	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000388922	Transcript	.	.	ENSG00000139567	175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ACVL1_HUMAN	ACVRL1	HGNC	D9IPD9_HUMAN,B4DUF0_HUMAN	.	UPI000000D9F4	SNV	ACVRL1,missense_variant,p.Leu204Phe,ENST00000550683,;ACVRL1,missense_variant,p.Leu190Phe,ENST00000388922,;ACVRL1,intron_variant,,ENST00000419526,;ACVRL1,intron_variant,,ENST00000547400,;ACVRL1,downstream_gene_variant,,ENST00000551576,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,upstream_gene_variant,,ENST00000547632,;	851	128	150	SUCCESS
KRT75	9119	.	GRCh37	12	52826871	52826871	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	74	146	0	ENST00000252245.5:c.664G>T	p.Glu222Ter	p.E222*	ENST00000252245	NM_004693.2	222	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8827.1	664	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTCAAGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF111,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000252245	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000252245	Transcript	.	.	ENSG00000170454	24431	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C75_HUMAN	KRT75	HGNC	.	.	UPI000013CD4E	SNV	KRT75,stop_gained,p.Glu222Ter,ENST00000252245,;RP11-1020M18.10,downstream_gene_variant,,ENST00000548135,;	885	146	165	SUCCESS
PIANP	196500	.	GRCh37	12	6807228	6807228	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	72	152	0	ENST00000320591.5:c.-1C>T		p.*1*	ENST00000320591	NM_153685.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44818.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGTCTGA	NONE	.	.	.	.	.	ENSP00000442157	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000540656	Transcript	.	.	ENSG00000139200	25338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIANP_HUMAN	PIANP	HGNC	F5H191_HUMAN,F5H0N9_HUMAN,F5GZA6_HUMAN	.	UPI0000074248	SNV	PIANP,5_prime_UTR_variant,,ENST00000545917,;PIANP,5_prime_UTR_variant,,ENST00000534837,;PIANP,5_prime_UTR_variant,,ENST00000536467,;PIANP,5_prime_UTR_variant,,ENST00000320591,;PIANP,5_prime_UTR_variant,,ENST00000540656,;PIANP,5_prime_UTR_variant,,ENST00000542740,;	339	152	165	SUCCESS
C1S	716	.	GRCh37	12	7177505	7177505	+	synonymous_variant	Silent	SNP	G	G	A	rs868987736	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	91	0	ENST00000328916.3:c.1617G>A	p.Val539=	p.V539=	ENST00000328916	NM_201442.2	539	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31735.1	1617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGAAAAT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF24,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF001155,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000385035	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000406697	Transcript	.	.	ENSG00000182326	1247	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1S_HUMAN	C1S	HGNC	F8WCZ6_HUMAN,F5H7T4_HUMAN,C9JY52_HUMAN,C9IZP8_HUMAN,B5MCV4_HUMAN	.	UPI0000126BF6	SNV	C1S,synonymous_variant,p.%3D,ENST00000328916,;C1S,synonymous_variant,p.%3D,ENST00000360817,;C1S,synonymous_variant,p.%3D,ENST00000406697,;C1S,synonymous_variant,p.%3D,ENST00000402681,;C1S,downstream_gene_variant,,ENST00000542978,;C1S,non_coding_transcript_exon_variant,,ENST00000495061,;C1S,3_prime_UTR_variant,,ENST00000443875,;C1S,downstream_gene_variant,,ENST00000461983,;C1S,downstream_gene_variant,,ENST00000463798,;C1S,downstream_gene_variant,,ENST00000495053,;C1S,downstream_gene_variant,,ENST00000497061,;C1S,downstream_gene_variant,,ENST00000473545,;C1S,downstream_gene_variant,,ENST00000470326,;	2245	91	78	SUCCESS
PAWR	5074	.	GRCh37	12	80083895	80083895	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	18	0	ENST00000328827.4:c.130G>T	p.Gly44Trp	p.G44W	ENST00000328827	NM_002583.2	44	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS31863.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCTCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15093	.	.	ENSP00000328088	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000328827	Transcript	.	.	ENSG00000177425	8614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	PAWR_HUMAN	PAWR	HGNC	F8W1M8_HUMAN	.	UPI0000070738	SNV	PAWR,missense_variant,p.Gly44Trp,ENST00000328827,;PAWR,missense_variant,p.Gly44Trp,ENST00000552637,;PAWR,missense_variant,p.Gly44Trp,ENST00000548426,;PAWR,upstream_gene_variant,,ENST00000551712,;RP11-530C5.1,upstream_gene_variant,,ENST00000551995,;PAWR,upstream_gene_variant,,ENST00000550006,;PAWR,upstream_gene_variant,,ENST00000547016,;PAWR,upstream_gene_variant,,ENST00000547571,;	503	18	21	SUCCESS
FREM2	341640	.	GRCh37	13	39265478	39265478	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	39	123	0	ENST00000280481.7:c.3997G>C	p.Asp1333His	p.D1333H	ENST00000280481	NM_207361.4	1333	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS31960.1	3997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAGATTCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	COSM170756	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Asp1333His,ENST00000280481,;	4213	123	67	SUCCESS
POTEG	404785	.	GRCh37	14	19553573	19553573	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	rs770563534	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	635	110	1010	0	ENST00000547889.1:c.157G>T	p.Ala53Ser	p.A53S	ENST00000547889		53	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32018.1	157	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGCTATG	BUFFER|p.D51N|c.151G>A|8	byFrequency	.	hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118	.	.	ENSP00000386971	.	1/11	.	.	.	.	.	.	.	.	rs770563534	1/11	common_in_exac	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.06)	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,missense_variant,p.Ala53Ser,ENST00000409832,;POTEG,missense_variant,p.Ala53Ser,ENST00000552966,;POTEG,missense_variant,p.Ala53Ser,ENST00000547889,;	209	1010	746	SUCCESS
CCNB1IP1	57820	.	GRCh37	14	20779825	20779826	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	263	77	216	0	ENST00000353689.4:c.717dup	p.Ala240CysfsTer8	p.A240Cfs*8	ENST00000353689	NM_182849.2	239	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS9547.1	717-718	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCCGCAAAAA	NONE	.	.	hmmpanther:PTHR14305	.	.	ENSP00000381235	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000398169	Transcript	.	.	ENSG00000100814	19437	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CIP1_HUMAN	CCNB1IP1	HGNC	G3V5S3_HUMAN	.	UPI000000CBC0	insertion	CCNB1IP1,frameshift_variant,p.Ala240CysfsTer8,ENST00000358932,;CCNB1IP1,frameshift_variant,p.Ala240CysfsTer8,ENST00000398169,;CCNB1IP1,frameshift_variant,p.Ala240CysfsTer8,ENST00000398163,;CCNB1IP1,frameshift_variant,p.Ala240CysfsTer8,ENST00000398160,;CCNB1IP1,frameshift_variant,p.Ala240CysfsTer8,ENST00000353689,;CCNB1IP1,frameshift_variant,p.Ala240CysfsTer8,ENST00000437553,;CCNB1IP1,downstream_gene_variant,,ENST00000553291,;CCNB1IP1,downstream_gene_variant,,ENST00000557665,;CCNB1IP1,downstream_gene_variant,,ENST00000556563,;CTD-2292M16.7,downstream_gene_variant,,ENST00000553419,;CCNB1IP1,downstream_gene_variant,,ENST00000556854,;CCNB1IP1,downstream_gene_variant,,ENST00000554184,;CCNB1IP1,downstream_gene_variant,,ENST00000554047,;	1334-1335	216	340	SUCCESS
TEP1	7011	.	GRCh37	14	20872028	20872028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	57	0	ENST00000262715.5:c.1048G>T	p.Asp350Tyr	p.D350Y	ENST00000262715	NM_007110.4	350	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9548.1	1048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATCTCCCT	NONE	.	.	Superfamily_domains:0051422,Pfam_domain:PF05731,PROSITE_profiles:PS50988	.	.	ENSP00000262715	.	6/55	.	.	.	.	.	.	.	.	.	6/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.1)	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Asp350Tyr,ENST00000262715,;TEP1,intron_variant,,ENST00000556935,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,missense_variant,p.Asp350Tyr,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	1089	57	48	SUCCESS
MYH6	4624	.	GRCh37	14	23866803	23866803	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	90	0	ENST00000356287.3:c.1911A>T	p.Lys637Asn	p.K637N	ENST00000356287		637	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9600.1	1911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTTTGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	deleterious(0.01)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Lys637Asn,ENST00000405093,;MYH6,missense_variant,p.Lys637Asn,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	1982	90	79	SUCCESS
MYH7	4625	.	GRCh37	14	23883217	23883217	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	43	72	0	ENST00000355349.3:c.5654C>T	p.Ala1885Val	p.A1885V	ENST00000355349	NM_000257.2	1885	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9601.1	5654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000347507	.	38/40	.	.	.	.	.	.	.	.	.	38/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	tolerated(0.06)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Ala1885Val,ENST00000355349,;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,upstream_gene_variant,,ENST00000557368,;	5817	72	100	SUCCESS
C14orf39	317761	.	GRCh37	14	60921835	60921835	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	78	277	0	ENST00000321731.3:c.1387G>C	p.Val463Leu	p.V463L	ENST00000321731	NM_174978.2	463	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS9746.1	1387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAACTTCAG	NONE	.	.	.	.	.	ENSP00000324920	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.15)	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,missense_variant,p.Val463Leu,ENST00000321731,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;C14orf39,upstream_gene_variant,,ENST00000498565,;	1547	277	223	SUCCESS
ADCK1	57143	.	GRCh37	14	78353552	78353552	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	37	0	ENST00000238561.5:c.542A>G	p.Lys181Arg	p.K181R	ENST00000238561	NM_020421.3	181	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9869.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAAGGTGC	NONE	.	.	hmmpanther:PTHR10566:SF58,hmmpanther:PTHR10566,Gene3D:3.30.200.20,Pfam_domain:PF03109,Superfamily_domains:SSF56112	.	.	ENSP00000238561	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000238561	Transcript	.	.	ENSG00000063761	19038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.37)	.	ADCK1_HUMAN	ADCK1	HGNC	.	.	UPI000014035F	SNV	ADCK1,missense_variant,p.Lys181Arg,ENST00000557501,;ADCK1,missense_variant,p.Lys181Arg,ENST00000238561,;ADCK1,missense_variant,p.Lys113Arg,ENST00000341211,;ADCK1,3_prime_UTR_variant,,ENST00000556048,;ADCK1,intron_variant,,ENST00000393639,;	641	37	46	SUCCESS
ACTC1	70	.	GRCh37	15	35084616	35084616	+	synonymous_variant	Silent	SNP	G	G	A	rs1055408313	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	47	158	0	ENST00000290378.4:c.609C>T	p.Val203=	p.V203=	ENST00000290378	NM_005159.4	203	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10041.1	609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGACAAA	NONE	.	.	hmmpanther:PTHR11937:SF176,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000290378	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000290378	Transcript	1	.	ENSG00000159251	143	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTC_HUMAN	ACTC1	HGNC	B3KPP5_HUMAN	.	UPI0000003F15	SNV	ACTC1,synonymous_variant,p.%3D,ENST00000290378,;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,non_coding_transcript_exon_variant,,ENST00000557860,;ACTC1,non_coding_transcript_exon_variant,,ENST00000560563,;	1265	158	135	SUCCESS
BAHD1	22893	.	GRCh37	15	40757537	40757537	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	60	187	0	ENST00000416165.1:c.2056T>A	p.Leu686Met	p.L686M	ENST00000416165	NM_014952.3	686	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS10058.1	2056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTTGCAG	NONE	.	.	PROSITE_profiles:PS51038,hmmpanther:PTHR12505,Pfam_domain:PF01426,SMART_domains:SM00439	.	.	ENSP00000396976	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000416165	Transcript	.	.	ENSG00000140320	29153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.14)	.	BAHD1_HUMAN	BAHD1	HGNC	.	.	UPI000013D778	SNV	BAHD1,missense_variant,p.Leu686Met,ENST00000416165,;BAHD1,missense_variant,p.Leu685Met,ENST00000561234,;BAHD1,splice_region_variant,,ENST00000560846,;RP11-64K12.8,non_coding_transcript_exon_variant,,ENST00000559730,;BAHD1,non_coding_transcript_exon_variant,,ENST00000561464,;	2127	187	169	SUCCESS
LEO1	123169	.	GRCh37	15	52251010	52251010	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	91	287	0	ENST00000299601.5:c.1174C>A	p.Gln392Lys	p.Q392K	ENST00000299601	NM_138792.2	392	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS10146.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGAGGAT	NONE	.	.	hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146,Pfam_domain:PF04004	.	.	ENSP00000299601	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.18)	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,missense_variant,p.Gln392Lys,ENST00000299601,;LEO1,intron_variant,,ENST00000315141,;MAPK6,intron_variant,,ENST00000560802,;LEO1,upstream_gene_variant,,ENST00000558949,;	1235	287	261	SUCCESS
RFX7	64864	.	GRCh37	15	56387675	56387675	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	197	0	ENST00000559447.2:c.1960T>G	p.Ser654Ala	p.S654A	ENST00000559447		654	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	.	2251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGATGGGG	NONE	.	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(1)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Ser751Ala,ENST00000423270,;RFX7,missense_variant,p.Ser654Ala,ENST00000559447,;RFX7,missense_variant,p.Ser751Ala,ENST00000317318,;RFX7,missense_variant,p.Ser654Ala,ENST00000422057,;RFX7,missense_variant,p.Ser654Ala,ENST00000559847,;	2251	197	82	SUCCESS
SLX4	84464	.	GRCh37	16	3651153	3651153	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	52	141	0	ENST00000294008.3:c.990G>T	p.Val330=	p.V330=	ENST00000294008	NM_032444.2	330	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10506.2	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCACAGA	NONE	.	.	hmmpanther:PTHR21541	.	.	ENSP00000294008	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,synonymous_variant,p.%3D,ENST00000294008,;SLX4,non_coding_transcript_exon_variant,,ENST00000486524,;SLX4,non_coding_transcript_exon_variant,,ENST00000466154,;	1631	142	146	SUCCESS
ADAT1	23536	.	GRCh37	16	75637056	75637056	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	42	118	0	ENST00000307921.3:c.1303A>G	p.Lys435Glu	p.K435E	ENST00000307921	NM_012091.3	435	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10922.1	1303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTGCTGA	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000310015	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000307921	Transcript	.	.	ENSG00000065457	228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	ADAT1_HUMAN	ADAT1	HGNC	H3BU72_HUMAN,H3BP18_HUMAN	.	UPI000006FD70	SNV	ADAT1,missense_variant,p.Lys435Glu,ENST00000307921,;ADAT1,missense_variant,p.Lys77Glu,ENST00000566450,;ADAT1,upstream_gene_variant,,ENST00000568510,;RP11-77K12.8,non_coding_transcript_exon_variant,,ENST00000564489,;ADAT1,upstream_gene_variant,,ENST00000568478,;ADAT1,3_prime_UTR_variant,,ENST00000566445,;	1449	118	81	SUCCESS
MAP2K4	6416	.	GRCh37	17	12016635	12016636	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	74	0	ENST00000353533.5:c.772_773del	p.Ile258CysfsTer9	p.I258Cfs*9	ENST00000353533	NM_003010.3	257	tcTAtt/tctt	0	.	.	.	.	.	-	SI/SX	protein_coding	YES	CCDS11162.1	771-772	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTCTATTGCC	BUFFER|p.D263fs*4|c.783_784delAA|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF46,hmmpanther:PTHR24360,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262445	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000353533	Transcript	.	.	ENSG00000065559	6844	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MP2K4_HUMAN	MAP2K4	HGNC	J3QQR2_HUMAN,J3KTI6_HUMAN	.	UPI000012F48E	deletion	MAP2K4,frameshift_variant,p.Ile258CysfsTer9,ENST00000353533,;MAP2K4,frameshift_variant,p.Ile269CysfsTer9,ENST00000415385,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000579089,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000581941,;MAP2K4,3_prime_UTR_variant,,ENST00000602375,;MAP2K4,3_prime_UTR_variant,,ENST00000602811,;MAP2K4,3_prime_UTR_variant,,ENST00000582183,;MAP2K4,3_prime_UTR_variant,,ENST00000538465,;MAP2K4,3_prime_UTR_variant,,ENST00000602537,;MAP2K4,3_prime_UTR_variant,,ENST00000602686,;MAP2K4,3_prime_UTR_variant,,ENST00000602305,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000585076,;MAP2K4,downstream_gene_variant,,ENST00000582377,;RP11-471L13.3,upstream_gene_variant,,ENST00000582566,;	834-835	74	75	SUCCESS
TVP23C	201158	.	GRCh37	17	15406424	15406424	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs17850827	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	36	62	0	ENST00000225576.3:c.585G>T	p.Arg195Ser	p.R195S	ENST00000225576	NM_145301.2	195	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11170.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCCTCGA	NONE	.	.	.	.	.	ENSP00000225576	.	6/6	.	.	.	.	.	.	.	.	rs17850827	6/6	PASS	ENST00000225576	Transcript	.	.	ENSG00000175106	30453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.17)	.	TV23C_HUMAN	TVP23C	HGNC	E5RGC5_HUMAN	.	UPI000013C872	SNV	TVP23C,missense_variant,p.Arg195Ser,ENST00000225576,;TVP23C,missense_variant,p.Arg152Ser,ENST00000519970,;CDRT4,5_prime_UTR_variant,,ENST00000524205,;TVP23C-CDRT4,intron_variant,,ENST00000522212,;TVP23C-CDRT4,3_prime_UTR_variant,,ENST00000557349,;TVP23C-CDRT4,intron_variant,,ENST00000518506,;TVP23C-CDRT4,intron_variant,,ENST00000481756,;TVP23C,downstream_gene_variant,,ENST00000581273,;AC005517.3,upstream_gene_variant,,ENST00000452091,;	681	62	56	SUCCESS
VTN	7448	.	GRCh37	17	26694414	26694414	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	69	3	ENST00000226218.4:c.1413C>G	p.Gly471=	p.G471=	ENST00000226218	NM_000638.3	471	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11229.1	1413	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGCCCAG	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR22917:SF3,hmmpanther:PTHR22917,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923	.	.	ENSP00000226218	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000226218	Transcript	.	.	ENSG00000109072	12724	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VTNC_HUMAN	VTN	HGNC	F5GX75_HUMAN,D9ZGG2_HUMAN	.	UPI0000138E65	SNV	VTN,synonymous_variant,p.%3D,ENST00000226218,;TMEM199,intron_variant,,ENST00000509083,;VTN,intron_variant,,ENST00000438614,;CTB-96E2.2,intron_variant,,ENST00000555059,;VTN,intron_variant,,ENST00000536498,;SARM1,upstream_gene_variant,,ENST00000457710,;TMEM199,downstream_gene_variant,,ENST00000292114,;VTN,downstream_gene_variant,,ENST00000542029,;VTN,upstream_gene_variant,,ENST00000431468,;CTB-96E2.7,upstream_gene_variant,,ENST00000577850,;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;VTN,downstream_gene_variant,,ENST00000539746,;	2032	72	80	SUCCESS
FOXN1	8456	.	GRCh37	17	26851109	26851109	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	88	0	ENST00000226247.2:c.122G>T	p.Ser41Ile	p.S41I	ENST00000226247	NM_003593.2	41	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS11232.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAGTGTAA	NONE	.	.	hmmpanther:PTHR11829:SF71,hmmpanther:PTHR11829	.	.	ENSP00000226247	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000226247	Transcript	.	.	ENSG00000109101	12765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	deleterious_low_confidence(0.01)	.	FOXN1_HUMAN	FOXN1	HGNC	J3KRT9_HUMAN	.	UPI000012ADE6	SNV	FOXN1,missense_variant,p.Ser41Ile,ENST00000579795,;FOXN1,missense_variant,p.Ser41Ile,ENST00000226247,;FOXN1,missense_variant,p.Ser41Ile,ENST00000577936,;RP11-192H23.4,intron_variant,,ENST00000481916,;	151	88	72	SUCCESS
CCL3	6348	.	GRCh37	17	34417435	34417435	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs373020815	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	443	243	673	0	ENST00000225245.5:c.-31C>T		p.*11*	ENST00000225245	NM_002983.2			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS11307.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCGAGTGT	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000225245	.	1/3	.	.	.	.	.	.	.	.	rs373020815	1/3	PASS	ENST00000225245	Transcript	.	.	ENSG00000006075	10627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCL3_HUMAN	CCL3	HGNC	A0N0R1_HUMAN	.	UPI00001362C9	SNV	CCL3,5_prime_UTR_variant,,ENST00000225245,;AC069363.1,non_coding_transcript_exon_variant,,ENST00000592728,;AC069363.1,downstream_gene_variant,,ENST00000441575,;AC069363.1,downstream_gene_variant,,ENST00000590992,;CCL3,non_coding_transcript_exon_variant,,ENST00000470334,;CCL3,non_coding_transcript_exon_variant,,ENST00000585830,;	53	673	686	SUCCESS
MRPL10	124995	.	GRCh37	17	45906024	45906024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	48	0	ENST00000351111.2:c.65C>T	p.Thr22Ile	p.T22I	ENST00000351111	NM_145255.3	22	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11517.1	95	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGTAGGC	NONE	.	.	hmmpanther:PTHR11560:SF8,hmmpanther:PTHR11560	.	.	ENSP00000290208	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000290208	Transcript	.	.	ENSG00000159111	14055	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.49)	.	RM10_HUMAN	MRPL10	HGNC	B4DEH0_HUMAN	.	UPI000013DFCA	SNV	MRPL10,missense_variant,p.Thr32Ile,ENST00000290208,;MRPL10,missense_variant,p.Thr32Ile,ENST00000414011,;MRPL10,missense_variant,p.Thr22Ile,ENST00000351111,;LRRC46,upstream_gene_variant,,ENST00000269025,;MRPL10,3_prime_UTR_variant,,ENST00000423147,;MRPL10,3_prime_UTR_variant,,ENST00000421763,;MRPL10,non_coding_transcript_exon_variant,,ENST00000480901,;MRPL10,non_coding_transcript_exon_variant,,ENST00000466016,;LRRC46,upstream_gene_variant,,ENST00000584580,;LRRC46,upstream_gene_variant,,ENST00000579742,;LRRC46,upstream_gene_variant,,ENST00000579971,;LRRC46,upstream_gene_variant,,ENST00000584809,;	548	48	33	SUCCESS
SPHK1	8877	.	GRCh37	17	74383503	74383503	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1360711567	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	52	128	0	ENST00000392496.3:c.991C>G	p.Pro331Ala	p.P331A	ENST00000392496	NM_001142602.1	331	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS11744.1	1249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCCCAAG	NONE	.	.	hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF11,Superfamily_domains:SSF111331	.	.	ENSP00000313681	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000323374	Transcript	.	.	ENSG00000176170	11240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.02)	.	SPHK1_HUMAN	SPHK1	HGNC	Q9BTG7_HUMAN,Q53ZR5_HUMAN,K7EMA4_HUMAN,K7EJ32_HUMAN	.	UPI00001AF3B5	SNV	SPHK1,missense_variant,p.Pro345Ala,ENST00000590959,;SPHK1,missense_variant,p.Pro331Ala,ENST00000392496,;SPHK1,missense_variant,p.Pro417Ala,ENST00000323374,;SPHK1,missense_variant,p.Pro331Ala,ENST00000545180,;SPHK1,missense_variant,p.Pro331Ala,ENST00000592299,;SPHK1,downstream_gene_variant,,ENST00000590379,;UBE2O,downstream_gene_variant,,ENST00000319380,;UBE2O,downstream_gene_variant,,ENST00000587127,;PRPSAP1,upstream_gene_variant,,ENST00000442767,;PRPSAP1,upstream_gene_variant,,ENST00000423915,;SPHK1,downstream_gene_variant,,ENST00000591651,;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,non_coding_transcript_exon_variant,,ENST00000591762,;SPHK1,downstream_gene_variant,,ENST00000587167,;	1705	128	170	SUCCESS
USP36	57602	.	GRCh37	17	76802273	76802273	+	synonymous_variant	Silent	SNP	G	G	A	rs372776119	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	56	67	0	ENST00000542802.3:c.2181C>T	p.Pro727=	p.P727=	ENST00000542802		727	ccC/ccT	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS32755.1	2181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACGGGGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24006:SF409,hmmpanther:PTHR24006	.	A:0	ENSP00000441214	.	15/21	.	.	.	.	.	.	.	.	rs372776119	15/21	PASS	ENST00000542802	Transcript	.	.	ENSG00000055483	20062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP36_HUMAN	USP36	HGNC	K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN	.	UPI00000398BB	SNV	USP36,synonymous_variant,p.%3D,ENST00000449938,;USP36,synonymous_variant,p.%3D,ENST00000312010,;USP36,synonymous_variant,p.%3D,ENST00000542802,;USP36,downstream_gene_variant,,ENST00000588467,;USP36,synonymous_variant,p.%3D,ENST00000588086,;USP36,synonymous_variant,p.%3D,ENST00000589225,;	2625	67	124	SUCCESS
ALOX15B	247	.	GRCh37	17	7951723	7951723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768290223	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	48	0	ENST00000380183.4:c.1871C>T	p.Pro624Leu	p.P624L	ENST00000380183	NM_001141.2	624	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11128.1	1871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCCGGATG	NONE	byFrequency	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484	.	.	ENSP00000369530	.	14/14	.	.	.	.	.	.	.	.	rs768290223	14/14	PASS	ENST00000380183	Transcript	.	.	ENSG00000179593	434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	LX15B_HUMAN	ALOX15B	HGNC	.	.	UPI0000140991	SNV	ALOX15B,missense_variant,p.Pro624Leu,ENST00000380183,;ALOX15B,missense_variant,p.Pro550Leu,ENST00000573359,;ALOX15B,missense_variant,p.Pro612Leu,ENST00000572022,;ALOX15B,missense_variant,p.Pro595Leu,ENST00000380173,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	2010	48	31	SUCCESS
NPC1	4864	.	GRCh37	18	21125036	21125036	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1484115935	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	104	260	0	ENST00000269228.5:c.1835A>G	p.Glu612Gly	p.E612G	ENST00000269228	NM_000271.4	612	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS11878.1	1835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTTCATCT	NONE	.	.	hmmpanther:PTHR10796:SF35,hmmpanther:PTHR10796,Gene3D:2j8sB01,TIGRFAM_domain:TIGR00917,Superfamily_domains:SSF82866	.	.	ENSP00000269228	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000269228	Transcript	.	.	ENSG00000141458	7897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	NPC1_HUMAN	NPC1	HGNC	.	.	UPI000013D80F	SNV	NPC1,missense_variant,p.Glu612Gly,ENST00000269228,;NPC1,missense_variant,p.Glu294Gly,ENST00000412552,;NPC1,missense_variant,p.Glu305Gly,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,upstream_gene_variant,,ENST00000586718,;	2390	260	297	SUCCESS
SYT4	6860	.	GRCh37	18	40850324	40850324	+	synonymous_variant	Silent	SNP	G	G	A	rs762810780	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	9	160	0	ENST00000255224.3:c.1260C>T	p.His420=	p.H420=	ENST00000255224	NM_020783.3	420	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS11922.1	1260	MUTECT|MUSE	.	AGCACGTGCCA	NONE	byFrequency	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000255224	.	4/4	.	.	.	.	.	.	.	.	rs762810780	4/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,synonymous_variant,p.%3D,ENST00000255224,;SYT4,synonymous_variant,p.%3D,ENST00000590752,;SYT4,downstream_gene_variant,,ENST00000596867,;SYT4,downstream_gene_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000586678,;SYT4,non_coding_transcript_exon_variant,,ENST00000585604,;SYT4,downstream_gene_variant,,ENST00000591820,;SYT4,downstream_gene_variant,,ENST00000589479,;	1629	160	152	SUCCESS
EPB41L3	23136	.	GRCh37	18	5433469	5433469	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	61	0	ENST00000341928.2:c.911A>T	p.Lys304Met	p.K304M	ENST00000341928	NM_012307.3	304	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS11838.1	911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTTAGCA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Gene3D:2.30.29.30,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729,Prints_domain:PR00661	.	.	ENSP00000343158	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	deleterious(0)	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Lys304Met,ENST00000342933,;EPB41L3,missense_variant,p.Lys304Met,ENST00000341928,;EPB41L3,missense_variant,p.Lys304Met,ENST00000544123,;EPB41L3,missense_variant,p.Lys304Met,ENST00000400111,;EPB41L3,missense_variant,p.Lys304Met,ENST00000540638,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,splice_region_variant,,ENST00000581757,;EPB41L3,splice_region_variant,,ENST00000545076,;EPB41L3,splice_region_variant,,ENST00000578432,;EPB41L3,splice_region_variant,,ENST00000542652,;	1252	61	75	SUCCESS
CDH7	1005	.	GRCh37	18	63430104	63430104	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	93	0	ENST00000323011.3:c.26G>T	p.Cys9Phe	p.C9F	ENST00000323011	NM_033646.1	9	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS11993.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGCCATT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91	.	.	ENSP00000381058	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.06)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Cys9Phe,ENST00000397968,;CDH7,missense_variant,p.Cys9Phe,ENST00000536984,;CDH7,missense_variant,p.Cys9Phe,ENST00000323011,;CDH7,upstream_gene_variant,,ENST00000581601,;	452	93	84	SUCCESS
ANKRD12	23253	.	GRCh37	18	9256402	9256402	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	57	277	0	ENST00000262126.4:c.3137A>T	p.Lys1046Ile	p.K1046I	ENST00000262126	NM_015208.4	1046	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS11843.1	3137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAAAATCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Lys1046Ile,ENST00000262126,;ANKRD12,missense_variant,p.Lys1023Ile,ENST00000383440,;ANKRD12,missense_variant,p.Lys1023Ile,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000359158,;	3377	277	218	SUCCESS
ZNF536	9745	.	GRCh37	19	31038933	31038933	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140147461	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	98	0	ENST00000355537.3:c.2407C>T	p.Arg803Trp	p.R803W	ENST00000355537	NM_014717.1	803	Cgg/Tgg	0	T:0	T:0	.	T:0.0014	.	T	R/W	protein_coding	YES	CCDS32984.1	2407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCGGGAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,Gene3D:3.30.160.60	T:0	T:0.0005	ENSP00000347730	T:0	4/5	.	.	.	.	.	.	.	.	rs140147461	4/5	PASS	ENST00000355537	Transcript	.	T:0.0002	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	T:0	deleterious(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Arg803Trp,ENST00000585628,;ZNF536,missense_variant,p.Arg803Trp,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2554	98	104	SUCCESS
FZR1	51343	.	GRCh37	19	3527733	3527733	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	41	140	0	ENST00000395095.3:c.575T>G	p.Leu192Arg	p.L192R	ENST00000395095	NM_001136198.1	192	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS45916.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTGGTGG	NONE	.	.	hmmpanther:PTHR19918:SF6,hmmpanther:PTHR19918,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000378529	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,missense_variant,p.Leu192Arg,ENST00000395095,;FZR1,missense_variant,p.Leu192Arg,ENST00000441788,;FZR1,intron_variant,,ENST00000313639,;FZR1,missense_variant,p.Leu192Arg,ENST00000591290,;FZR1,non_coding_transcript_exon_variant,,ENST00000592214,;FZR1,downstream_gene_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000586212,;	575	140	144	SUCCESS
ZNF790	388536	.	GRCh37	19	37309866	37309869	+	frameshift_variant	Frame_Shift_Del	DEL	AAGA	AAGA	-	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	AAGA	AAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	122	48	143	0	ENST00000356725.4:c.1377_1380del	p.Leu460MetfsTer192	p.L460Mfs*192	ENST00000356725	NM_206894.3	459	ttTCTT/tt	0	.	.	.	.	.	-	FL/X	protein_coding	YES	CCDS12496.1	1377-1380	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCATGAAGAAAGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349161	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000356725	Transcript	.	.	ENSG00000197863	33114	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN790_HUMAN	ZNF790	HGNC	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN	.	UPI0000160EF0	deletion	ZNF790,frameshift_variant,p.Leu460MetfsTer192,ENST00000356725,;ZNF790,downstream_gene_variant,,ENST00000586323,;ZNF790,downstream_gene_variant,,ENST00000528994,;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;	1498-1501	143	170	SUCCESS
FCGBP	8857	.	GRCh37	19	40424311	40424311	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	112	0	ENST00000221347.6:c.1892C>G	p.Pro631Arg	p.P631R	ENST00000221347	NM_003890.2	631	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12546.1	1892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCAGGAGCC	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339	.	.	ENSP00000221347	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Pro631Arg,ENST00000221347,;	1900	112	92	SUCCESS
PHLDB3	653583	.	GRCh37	19	43983597	43983597	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200179651	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	112	0	ENST00000292140.5:c.1634G>T	p.Arg545Leu	p.R545L	ENST00000292140	NM_198850.3	545	cGc/cTc	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS12621.2	1634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCGGCCG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF15,PROSITE_profiles:PS50003	.	T:0.0005	ENSP00000292140	.	14/16	.	.	.	.	.	.	.	.	rs200179651	14/16	PASS	ENST00000292140	Transcript	.	.	ENSG00000176531	30499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PHLB3_HUMAN	PHLDB3	HGNC	M0R3I7_HUMAN,M0R038_HUMAN	.	UPI00015C725F	SNV	PHLDB3,missense_variant,p.Arg545Leu,ENST00000292140,;PHLDB3,downstream_gene_variant,,ENST00000600660,;PHLDB3,downstream_gene_variant,,ENST00000596141,;PHLDB3,non_coding_transcript_exon_variant,,ENST00000595498,;PHLDB3,downstream_gene_variant,,ENST00000598849,;	1995	112	142	SUCCESS
CCDC61	729440	.	GRCh37	19	46518655	46518655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	20	0	ENST00000595358.1:c.815T>C	p.Leu272Pro	p.L272P	ENST00000595358	NM_001267723.1	272	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS46120.2	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCTGACCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22691:SF1,hmmpanther:PTHR22691	.	.	ENSP00000471454	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000595358	Transcript	.	.	ENSG00000104983	33629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	.	CCDC61	HGNC	M0R0U9_HUMAN,M0QYL5_HUMAN,M0QY15_HUMAN	.	UPI000040C0FF	SNV	CCDC61,missense_variant,p.Leu329Pro,ENST00000263284,;CCDC61,missense_variant,p.Leu272Pro,ENST00000595358,;CCDC61,intron_variant,,ENST00000536603,;CCDC61,intron_variant,,ENST00000594087,;PGLYRP1,downstream_gene_variant,,ENST00000008938,;MIR769,upstream_gene_variant,,ENST00000390225,;CCDC61,upstream_gene_variant,,ENST00000601763,;CCDC61,3_prime_UTR_variant,,ENST00000596687,;CCDC61,downstream_gene_variant,,ENST00000599044,;	864	20	33	SUCCESS
C19orf10	0	.	GRCh37	19	4658077	4658077	+	synonymous_variant	Silent	SNP	T	T	A	rs745874684	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	38	0	ENST00000262947.3:c.462A>T	p.Ala154=	p.A154=	ENST00000262947	NM_019107.3	154	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12133.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAATGCCCC	NONE	byFrequency	.	hmmpanther:PTHR31230:SF1,hmmpanther:PTHR31230,Pfam_domain:PF10572	.	.	ENSP00000262947	.	6/6	.	.	.	.	.	.	.	.	rs745874684	6/6	PASS	ENST00000262947	Transcript	.	.	ENSG00000074842	16948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS010_HUMAN	C19orf10	HGNC	.	.	UPI00000711E5	SNV	C19orf10,synonymous_variant,p.%3D,ENST00000262947,;C19orf10,intron_variant,,ENST00000599761,;TNFAIP8L1,downstream_gene_variant,,ENST00000536716,;C19orf10,downstream_gene_variant,,ENST00000599630,;TNFAIP8L1,downstream_gene_variant,,ENST00000327473,;AC005339.2,upstream_gene_variant,,ENST00000598070,;C19orf10,downstream_gene_variant,,ENST00000596031,;	498	38	34	SUCCESS
LILRB1	10859	.	GRCh37	19	55148212	55148212	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	92	309	0	ENST00000324602.7:c.1842G>A	p.Val614=	p.V614=	ENST00000324602	NM_001278399.1	614	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42614.1	1842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTGACCTA	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89	.	.	ENSP00000315997	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,synonymous_variant,p.%3D,ENST00000396317,;LILRB1,synonymous_variant,p.%3D,ENST00000396331,;LILRB1,synonymous_variant,p.%3D,ENST00000396315,;LILRB1,synonymous_variant,p.%3D,ENST00000427581,;LILRB1,synonymous_variant,p.%3D,ENST00000396327,;LILRB1,synonymous_variant,p.%3D,ENST00000418536,;LILRB1,synonymous_variant,p.%3D,ENST00000434867,;LILRB1,synonymous_variant,p.%3D,ENST00000324602,;LILRB1,synonymous_variant,p.%3D,ENST00000396332,;LILRB1,synonymous_variant,p.%3D,ENST00000396321,;LILRB1,3_prime_UTR_variant,,ENST00000448689,;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	2067	309	312	SUCCESS
ZNF550	162972	.	GRCh37	19	58067425	58067425	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	14	0	ENST00000325134.5:c.154+174A>T		p.*52*	ENST00000325134				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TTGTGTTAAAA	NONE	.	.	.	.	.	ENSP00000422344	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000506609	Transcript	.	.	ENSG00000251369	28643	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN550_HUMAN	ZNF550	HGNC	.	.	UPI000006EACB	SNV	ZNF549,3_prime_UTR_variant,,ENST00000602149,;ZNF550,intron_variant,,ENST00000506609,;ZNF550,intron_variant,,ENST00000457177,;ZNF550,intron_variant,,ENST00000325134,;ZNF550,intron_variant,,ENST00000601415,;ZNF549,downstream_gene_variant,,ENST00000594943,;ZNF550,non_coding_transcript_exon_variant,,ENST00000595560,;ZNF550,intron_variant,,ENST00000447310,;ZNF550,intron_variant,,ENST00000376230,;	.	14	11	SUCCESS
ANGPTL4	51129	.	GRCh37	19	8429254	8429254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	16	0	ENST00000301455.2:c.49A>G	p.Thr17Ala	p.T17A	ENST00000301455	NM_139314.1	17	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS12200.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCGCCACCGCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000301455	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000301455	Transcript	.	.	ENSG00000167772	16039	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.217)	.	tolerated(0.05)	.	ANGL4_HUMAN	ANGPTL4	HGNC	M0R3A2_HUMAN,M0R0N8_HUMAN,M0QZ51_HUMAN,F5H0I2_HUMAN	.	UPI000003747B	SNV	ANGPTL4,missense_variant,p.Thr17Ala,ENST00000393962,;ANGPTL4,missense_variant,p.Thr17Ala,ENST00000601886,;ANGPTL4,missense_variant,p.Thr17Ala,ENST00000599192,;ANGPTL4,missense_variant,p.Thr17Ala,ENST00000601770,;ANGPTL4,missense_variant,p.Thr17Ala,ENST00000301455,;ANGPTL4,5_prime_UTR_variant,,ENST00000541807,;ANGPTL4,upstream_gene_variant,,ENST00000594875,;ANGPTL4,missense_variant,p.Thr17Ala,ENST00000595079,;ANGPTL4,missense_variant,p.Thr17Ala,ENST00000593998,;ANGPTL4,non_coding_transcript_exon_variant,,ENST00000598255,;ANGPTL4,non_coding_transcript_exon_variant,,ENST00000594348,;ANGPTL4,intron_variant,,ENST00000597137,;	220	16	14	SUCCESS
ZNF414	84330	.	GRCh37	19	8576572	8576572	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	20	0	ENST00000255616.8:c.803G>T	p.Arg268Leu	p.R268L	ENST00000255616	NM_032370.2	268	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS54211.1	803	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCAGGCGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21695,hmmpanther:PTHR21695:SF0	.	.	ENSP00000377504	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000393927	Transcript	.	.	ENSG00000133250	20630	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN414_HUMAN	ZNF414	HGNC	.	.	UPI000059D659	SNV	ZNF414,missense_variant,p.Arg268Leu,ENST00000393927,;ZNF414,missense_variant,p.Arg5Leu,ENST00000596772,;ZNF414,missense_variant,p.Arg101Leu,ENST00000594748,;ZNF414,missense_variant,p.Arg115Leu,ENST00000593661,;ZNF414,missense_variant,p.Arg268Leu,ENST00000255616,;ZNF414,non_coding_transcript_exon_variant,,ENST00000595348,;ZNF414,non_coding_transcript_exon_variant,,ENST00000602128,;ZNF414,downstream_gene_variant,,ENST00000599379,;ZNF414,downstream_gene_variant,,ENST00000600906,;	917	20	29	SUCCESS
MUC16	94025	.	GRCh37	19	9002558	9002558	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1203893129	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	101	298	0	ENST00000397910.4:c.40258C>A	p.His13420Asn	p.H13420N	ENST00000397910	NM_024690.2	13420	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS54212.1	40258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTGGGTCA	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	51/84	.	.	.	.	.	.	.	.	.	51/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.His61Asn,ENST00000380951,;MUC16,missense_variant,p.His13420Asn,ENST00000397910,;MUC16,missense_variant,p.His260Asn,ENST00000599436,;MUC16,missense_variant,p.His260Asn,ENST00000601404,;MUC16,missense_variant,p.His40Asn,ENST00000596768,;	40462	298	316	SUCCESS
MUC16	94025	.	GRCh37	19	9087113	9087113	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	140	440	1	ENST00000397910.4:c.4702A>G	p.Thr1568Ala	p.T1568A	ENST00000397910	NM_024690.2	1568	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS54212.1	4702	RADIA|SOMATICSNIPER|VARSCANS	.	CTGTGTCACGT	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr1568Ala,ENST00000397910,;	4906	441	367	SUCCESS
CELSR2	1952	.	GRCh37	1	109795619	109795619	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	111	0	ENST00000271332.3:c.2918T>C	p.Ile973Thr	p.I973T	ENST00000271332	NM_001408.2	973	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS796.1	2918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACATCTTCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000271332	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	tolerated(0.24)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Ile973Thr,ENST00000271332,;	2979	111	87	SUCCESS
SSU72	29101	.	GRCh37	1	1500143	1500143	+	intron_variant	Intron	SNP	G	G	T	rs370231127	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	62	148	0	ENST00000291386.3:c.224+10C>A		p.*75*	ENST00000291386	NM_014188.2			0	A:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS32.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGCTGGG	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000291386	.	.	.	.	.	.	.	.	.	.	rs370231127	.	PASS	ENST00000291386	Transcript	.	.	ENSG00000160075	25016	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSU72_HUMAN	SSU72	HGNC	.	.	UPI00000437EE	SNV	SSU72,missense_variant,p.Ser78Arg,ENST00000359060,;SSU72,intron_variant,,ENST00000291386,;SSU72,intron_variant,,ENST00000378725,;AL645728.2,upstream_gene_variant,,ENST00000539195,;	.	148	105	SUCCESS
ZNF687	57592	.	GRCh37	1	151260007	151260007	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	60	0	ENST00000324048.5:c.1240C>T	p.Leu414=	p.L414=	ENST00000324048		414	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS992.1	1240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCTGATG	NONE	.	.	hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402	.	.	ENSP00000319829	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,synonymous_variant,p.%3D,ENST00000426871,;ZNF687,synonymous_variant,p.%3D,ENST00000324048,;ZNF687,synonymous_variant,p.%3D,ENST00000368879,;ZNF687,synonymous_variant,p.%3D,ENST00000336715,;PI4KB,downstream_gene_variant,,ENST00000368874,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000529142,;PI4KB,downstream_gene_variant,,ENST00000368873,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000368872,;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368875,;ZNF687,synonymous_variant,p.%3D,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	2210	60	57	SUCCESS
CGN	57530	.	GRCh37	1	151499552	151499552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	74	192	1	ENST00000271636.7:c.1865G>T	p.Gly622Val	p.G622V	ENST00000271636	NM_020770.2	622	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS999.1	1865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGAGATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF280,hmmpanther:PTHR13140	.	.	ENSP00000271636	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000271636	Transcript	.	.	ENSG00000143375	17429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.3)	.	CING_HUMAN	CGN	HGNC	A6PVU7_HUMAN,A2A3M4_HUMAN	.	UPI0000161C1E	SNV	CGN,missense_variant,p.Gly622Val,ENST00000271636,;CGN,downstream_gene_variant,,ENST00000416743,;SNORA44,downstream_gene_variant,,ENST00000517031,;CGN,non_coding_transcript_exon_variant,,ENST00000464886,;	1998	193	210	SUCCESS
DCST2	127579	.	GRCh37	1	155003099	155003099	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	77	177	0	ENST00000368424.3:c.828G>T	p.Arg276=	p.R276=	ENST00000368424	NM_144622.2	276	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1082.2	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACCCGGTT	NONE	.	.	hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF1	.	.	ENSP00000357409	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000368424	Transcript	.	.	ENSG00000163354	26562	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCST2_HUMAN	DCST2	HGNC	Q8N1J0_HUMAN	.	UPI0000D959B3	SNV	DCST2,synonymous_variant,p.%3D,ENST00000295536,;DCST2,synonymous_variant,p.%3D,ENST00000368424,;DCST1,upstream_gene_variant,,ENST00000423025,;DCST1,upstream_gene_variant,,ENST00000392480,;DCST1,upstream_gene_variant,,ENST00000295542,;DCST1,upstream_gene_variant,,ENST00000368419,;DCST2,synonymous_variant,p.%3D,ENST00000485982,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST1,upstream_gene_variant,,ENST00000525273,;DCST2,upstream_gene_variant,,ENST00000498036,;DCST1,upstream_gene_variant,,ENST00000368420,;DCST2,upstream_gene_variant,,ENST00000467991,;	887	177	212	SUCCESS
SMG5	23381	.	GRCh37	1	156220788	156220788	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	28	50	0	ENST00000361813.5:c.2829-1G>T		p.X943_splice	ENST00000361813	NM_015327.2	943		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1137.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCCTGGGG	NONE	.	.	.	.	.	ENSP00000355261	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361813	Transcript	.	.	ENSG00000198952	24644	.	.	HIGH	20/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG5_HUMAN	SMG5	HGNC	.	.	UPI0000050C24	SNV	SMG5,splice_acceptor_variant,,ENST00000361813,;SMG5,intron_variant,,ENST00000368267,;PAQR6,upstream_gene_variant,,ENST00000540423,;PAQR6,upstream_gene_variant,,ENST00000368270,;PAQR6,upstream_gene_variant,,ENST00000340183,;PAQR6,upstream_gene_variant,,ENST00000335852,;PAQR6,upstream_gene_variant,,ENST00000292291,;PAQR6,upstream_gene_variant,,ENST00000356983,;PAQR6,upstream_gene_variant,,ENST00000491107,;PAQR6,upstream_gene_variant,,ENST00000480773,;PAQR6,upstream_gene_variant,,ENST00000492619,;PAQR6,upstream_gene_variant,,ENST00000468632,;PAQR6,upstream_gene_variant,,ENST00000475507,;PAQR6,upstream_gene_variant,,ENST00000470198,;SMG5,non_coding_transcript_exon_variant,,ENST00000476954,;SMG5,downstream_gene_variant,,ENST00000468993,;SMG5,downstream_gene_variant,,ENST00000473643,;	.	50	53	SUCCESS
FMO1	2326	.	GRCh37	1	171251160	171251160	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765073901	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	63	0	ENST00000354841.4:c.871C>T	p.Arg291Cys	p.R291C	ENST00000354841	NM_001282692.1	291	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1294.1	871	MUTECT|MUSE	.	CAGGACGCATC	NONE	byFrequency	.	hmmpanther:PTHR23023:SF57,hmmpanther:PTHR23023,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR01121	.	.	ENSP00000346901	.	6/8	.	.	.	.	.	.	.	.	rs765073901,COSM244566	6/8	PASS	ENST00000354841	Transcript	.	.	ENSG00000010932	3769	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.015)	.	tolerated(0.47)	0,1	FMO1_HUMAN	FMO1	HGNC	Q5QPT3_HUMAN	.	UPI000000DBBA	SNV	FMO1,missense_variant,p.Arg291Cys,ENST00000354841,;FMO1,missense_variant,p.Arg291Cys,ENST00000367750,;FMO1,missense_variant,p.Arg228Cys,ENST00000402921,;FMO1,downstream_gene_variant,,ENST00000433267,;FMO1,non_coding_transcript_exon_variant,,ENST00000469112,;FMO1,non_coding_transcript_exon_variant,,ENST00000472893,;FMO1,upstream_gene_variant,,ENST00000469711,;	1002	63	35	SUCCESS
CACNA1E	777	.	GRCh37	1	181548355	181548355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	323	172	488	0	ENST00000367573.2:c.764A>T	p.Asn255Ile	p.N255I	ENST00000367573	NM_001205293.1	255	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS55664.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAATTCAG	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	5/48	.	.	.	.	.	.	.	.	.	5/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.14)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Asn255Ile,ENST00000360108,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000524607,;CACNA1E,missense_variant,p.Asn206Ile,ENST00000358338,;CACNA1E,missense_variant,p.Asn206Ile,ENST00000357570,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000526775,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000367570,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	764	488	495	SUCCESS
PIGR	5284	.	GRCh37	1	207110487	207110487	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	94	0	ENST00000356495.4:c.998T>C	p.Leu333Pro	p.L333P	ENST00000356495	NM_002644.3	333	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1474.1	998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCTGA	NONE	.	.	hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348888	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000356495	Transcript	.	.	ENSG00000162896	8968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.37)	.	PIGR_HUMAN	PIGR	HGNC	.	.	UPI000007407E	SNV	PIGR,missense_variant,p.Leu333Pro,ENST00000356495,;PIGR,downstream_gene_variant,,ENST00000491503,;	1182	94	98	SUCCESS
INTS7	25896	.	GRCh37	1	212184718	212184718	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	469	34	531	1	ENST00000366994.3:c.555A>G		p.X185_splice	ENST00000366994	NM_001199811.1	185	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS1501.1	555	MUTECT|MUSE	.	ATACCTTGAAT	NONE	.	.	hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2,Superfamily_domains:SSF48371	.	.	ENSP00000355961	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000366994	Transcript	.	.	ENSG00000143493	24484	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INT7_HUMAN	INTS7	HGNC	.	.	UPI000006FE2E	SNV	INTS7,synonymous_variant,p.%3D,ENST00000366994,;INTS7,synonymous_variant,p.%3D,ENST00000366993,;INTS7,synonymous_variant,p.%3D,ENST00000440600,;INTS7,synonymous_variant,p.%3D,ENST00000366992,;INTS7,splice_region_variant,,ENST00000469606,;INTS7,splice_region_variant,,ENST00000460867,;	660	532	503	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220356254	220356254	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	106	331	0	ENST00000358951.2:c.2018G>C	p.Arg673Thr	p.R673T	ENST00000358951	NM_012414.3	673	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS31028.1	2018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCTTAGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12472	.	.	ENSP00000351832	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.316)	.	tolerated(0.54)	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,missense_variant,p.Arg673Thr,ENST00000358951,;RAB3GAP2,downstream_gene_variant,,ENST00000478976,;	2135	331	345	SUCCESS
AGO4	192670	.	GRCh37	1	36291032	36291032	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	131	365	0	ENST00000373210.3:c.425A>G	p.Asn142Ser	p.N142S	ENST00000373210	NM_017629.3	142	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS397.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAATGAAG	NONE	.	.	HAMAP:MF_03033,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF26,Superfamily_domains:SSF101690	.	.	ENSP00000362306	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000373210	Transcript	.	.	ENSG00000134698	18424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.79)	.	AGO4_HUMAN	AGO4	HGNC	Q9NXV9_HUMAN	.	UPI00001684D9	SNV	AGO4,missense_variant,p.Asn142Ser,ENST00000373210,;	670	365	239	SUCCESS
ODF2L	57489	.	GRCh37	1	86817802	86817802	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	68	202	0	ENST00000317336.7:c.1893+740G>A		p.*631*	ENST00000317336	NM_001184765.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41354.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCCAAAAA	NONE	.	.	.	.	.	ENSP00000359600	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000359242	Transcript	.	.	ENSG00000122417	29225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODF2L_HUMAN	ODF2L	HGNC	B5ME44_HUMAN	.	UPI00001C1D6A	SNV	ODF2L,3_prime_UTR_variant,,ENST00000294678,;ODF2L,3_prime_UTR_variant,,ENST00000359242,;ODF2L,intron_variant,,ENST00000394731,;ODF2L,intron_variant,,ENST00000370566,;ODF2L,intron_variant,,ENST00000460698,;ODF2L,intron_variant,,ENST00000317336,;ODF2L,intron_variant,,ENST00000462648,;ODF2L,intron_variant,,ENST00000370567,;ODF2L,downstream_gene_variant,,ENST00000524695,;ODF2L,downstream_gene_variant,,ENST00000531412,;ODF2L,downstream_gene_variant,,ENST00000472144,;ODF2L,downstream_gene_variant,,ENST00000473792,;ODF2L,downstream_gene_variant,,ENST00000476054,;	2265	202	199	SUCCESS
ZNF644	84146	.	GRCh37	1	91405648	91405648	+	synonymous_variant	Silent	SNP	C	C	T	rs78456645	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	75	191	0	ENST00000337393.5:c.1263G>A	p.Glu421=	p.E421=	ENST00000337393	NM_201269.2	421	gaG/gaA	0	T:0.0061	T:0.0061	.	T:0	.	T	E	protein_coding	YES	CCDS731.1	1263	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCTCCCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF180,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0	T:0	ENSP00000359469	T:0	3/6	.	.	.	.	.	.	.	.	rs78456645	3/6	common_in_exac	ENST00000370440	Transcript	.	T:0.0016	ENSG00000122482	29222	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,synonymous_variant,p.%3D,ENST00000370440,;ZNF644,synonymous_variant,p.%3D,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,;ZNF644,upstream_gene_variant,,ENST00000479798,;	1481	191	163	SUCCESS
SMOX	54498	.	GRCh37	20	4163387	4163387	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	125	0	ENST00000305958.4:c.1261G>T	p.Gly421Cys	p.G421C	ENST00000305958	NM_175839.2	421	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS13075.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACGGCCAT	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF44,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF54373	.	.	ENSP00000307252	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000305958	Transcript	.	.	ENSG00000088826	15862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0.01)	.	SMOX_HUMAN	SMOX	HGNC	.	.	UPI000006CE86	SNV	SMOX,missense_variant,p.Gly421Cys,ENST00000305958,;SMOX,missense_variant,p.Gly368Cys,ENST00000339123,;SMOX,missense_variant,p.Gly278Cys,ENST00000457205,;SMOX,missense_variant,p.Gly368Cys,ENST00000278795,;SMOX,missense_variant,p.Gly421Cys,ENST00000379460,;SMOX,intron_variant,,ENST00000346595,;SMOX,intron_variant,,ENST00000494098,;SMOX,upstream_gene_variant,,ENST00000466004,;SMOX,downstream_gene_variant,,ENST00000484515,;SMOX,upstream_gene_variant,,ENST00000486998,;	1486	125	145	SUCCESS
ZFP64	55734	.	GRCh37	20	50769740	50769740	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	93	216	0	ENST00000216923.4:c.991C>T	p.Arg331Trp	p.R331W	ENST00000216923	NM_199426.1	331	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS13440.1	991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGGAGGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27,Pfam_domain:PF13909,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000216923	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216923	Transcript	.	.	ENSG00000020256	15940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious(0.04)	.	ZF64A_HUMAN	ZFP64	HGNC	B3KQX0_HUMAN	.	UPI000006D699	SNV	ZFP64,missense_variant,p.Arg329Trp,ENST00000371515,;ZFP64,missense_variant,p.Arg277Trp,ENST00000346617,;ZFP64,missense_variant,p.Arg331Trp,ENST00000216923,;ZFP64,intron_variant,,ENST00000371518,;ZFP64,intron_variant,,ENST00000361387,;ZFP64,intron_variant,,ENST00000477786,;	1341	216	220	SUCCESS
BAGE2	85319	.	GRCh37	21	11039051	11039051	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1354	100	1452	1	ENST00000470054.1:n.1153T>C		p.*385*	ENST00000470054				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	AGTCCATCAAT	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1153	1453	1454	SUCCESS
KRTAP13-2	337959	.	GRCh37	21	31744410	31744410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	68	183	0	ENST00000399889.2:c.122G>T	p.Cys41Phe	p.C41F	ENST00000399889	NM_181621.3	41	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS13589.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCAGAGG	NONE	.	.	Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17	.	.	ENSP00000382777	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399889	Transcript	.	.	ENSG00000182816	18923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	tolerated(0.1)	.	KR132_HUMAN	KRTAP13-2	HGNC	.	.	UPI000003B46A	SNV	KRTAP13-2,missense_variant,p.Cys41Phe,ENST00000399889,;MIR4327,downstream_gene_variant,,ENST00000581194,;	148	183	199	SUCCESS
RRP1B	23076	.	GRCh37	21	45094517	45094517	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	57	124	0	ENST00000340648.4:c.358C>A	p.Leu120Met	p.L120M	ENST00000340648	NM_015056.2	120	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS33577.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGCTGATT	NONE	.	.	hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2,Pfam_domain:PF05997	.	.	ENSP00000339145	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000340648	Transcript	.	.	ENSG00000160208	23818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RRP1B_HUMAN	RRP1B	HGNC	.	.	UPI0000198EE6	SNV	RRP1B,missense_variant,p.Leu120Met,ENST00000340648,;	475	124	172	SUCCESS
CSTB	1476	.	GRCh37	21	45196138	45196138	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1555888493	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	15	0	ENST00000291568.5:c.13del	p.Ala5ArgfsTer19	p.A5Rfs*19	ENST00000291568	NM_000100.3	5	Gcg/cg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS13701.1	13	INDELOCATOR|VARSCANI	.	AGGGCGCCCCGC	NONE	.	.	hmmpanther:PTHR11414,hmmpanther:PTHR11414:SF19,Gene3D:3.10.450.10,Pfam_domain:PF00031,SMART_domains:SM00043,Superfamily_domains:SSF54403,Prints_domain:PR00295	.	.	ENSP00000291568	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000291568	Transcript	.	.	ENSG00000160213	2482	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CYTB_HUMAN	CSTB	HGNC	Q76LA1_HUMAN	.	UPI0000001F9C	deletion	CSTB,frameshift_variant,p.Ala5ArgfsTer19,ENST00000291568,;CSTB,non_coding_transcript_exon_variant,,ENST00000480147,;	189	15	37	SUCCESS
HIRA	7290	.	GRCh37	22	19376069	19376069	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	71	0	ENST00000263208.5:c.945T>C	p.Cys315=	p.C315=	ENST00000263208	NM_003325.3	315	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS13759.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGACATGT	NONE	.	.	hmmpanther:PTHR13831:SF0,hmmpanther:PTHR13831,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000263208	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000263208	Transcript	.	.	ENSG00000100084	4916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIRA_HUMAN	HIRA	HGNC	F5H4M2_HUMAN	.	UPI0000074373	SNV	HIRA,synonymous_variant,p.%3D,ENST00000541063,;HIRA,synonymous_variant,p.%3D,ENST00000340170,;HIRA,synonymous_variant,p.%3D,ENST00000263208,;HIRA,synonymous_variant,p.%3D,ENST00000546308,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;	1202	71	89	SUCCESS
IGLV1-44	28823	.	GRCh37	22	22735705	22735705	+	synonymous_variant	Silent	SNP	C	C	T	rs556021668	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	59	194	0	ENST00000390297.2:c.342C>T	p.Ser114=	p.S114=	ENST00000390297		114	agC/agT	0	.	T:0.0008	.	T:0	.	T	S	IG_V_gene	YES	.	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCCTGAA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF116,hmmpanther:PTHR23267,Gene3D:2.60.40.10,SMART_domains:SM00409	T:0.001	.	ENSP00000374832	T:0	2/2	.	.	.	.	.	.	.	.	rs556021668	2/2	PASS	ENST00000390297	Transcript	.	T:0.0004	ENSG00000211651	5879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	IGLV1-44	HGNC	.	.	UPI0000115F98	SNV	IGLV1-44,synonymous_variant,p.%3D,ENST00000390297,;IGLV5-45,downstream_gene_variant,,ENST00000390296,;	456	194	149	SUCCESS
SYN3	8224	.	GRCh37	22	33402666	33402666	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	85	0	ENST00000358763.2:c.-19T>C		p.*7*	ENST00000358763	NM_001135774.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13908.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGATGACT	NONE	.	.	.	.	.	ENSP00000351614	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000358763	Transcript	.	.	ENSG00000185666	11496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYN3_HUMAN	SYN3	HGNC	Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN	.	UPI00001365D3	SNV	SYN3,5_prime_UTR_variant,,ENST00000412575,;SYN3,5_prime_UTR_variant,,ENST00000358763,;SYN3,5_prime_UTR_variant,,ENST00000332840,;SYN3,5_prime_UTR_variant,,ENST00000441821,;	225	85	99	SUCCESS
HMGXB4	10042	.	GRCh37	22	35661228	35661228	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	68	197	0	ENST00000216106.5:c.847G>A	p.Asp283Asn	p.D283N	ENST00000216106	NM_001003681.2	283	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33641.1	847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTGATCTT	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169	.	.	ENSP00000216106	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000216106	Transcript	.	.	ENSG00000100281	5003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	.	deleterious_low_confidence(0)	.	HMGX4_HUMAN	HMGXB4	HGNC	Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN	.	UPI00003765B4	SNV	HMGXB4,missense_variant,p.Asp174Asn,ENST00000444518,;HMGXB4,missense_variant,p.Asp174Asn,ENST00000455359,;HMGXB4,missense_variant,p.Asp283Asn,ENST00000216106,;HMGXB4,missense_variant,p.Asp174Asn,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000464480,;HMGXB4,downstream_gene_variant,,ENST00000498325,;	975	197	208	SUCCESS
RRP7B	0	.	GRCh37	22	42972029	42972029	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	47	0	ENST00000357802.2:n.692C>T		p.*231*	ENST00000357802				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14037.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCTGCC	NONE	.	1641	.	.	.	ENSP00000331376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327678	Transcript	.	.	ENSG00000183569	29446	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEHL2_HUMAN	SERHL2	HGNC	E9PMQ2_HUMAN	.	UPI0000135810	SNV	SERHL2,downstream_gene_variant,,ENST00000340239,;SERHL2,downstream_gene_variant,,ENST00000327678,;SERHL2,downstream_gene_variant,,ENST00000407614,;SERHL2,downstream_gene_variant,,ENST00000335879,;RRP7B,non_coding_transcript_exon_variant,,ENST00000357802,;RRP7B,non_coding_transcript_exon_variant,,ENST00000437211,;RRP7B,non_coding_transcript_exon_variant,,ENST00000458605,;RRP7B,downstream_gene_variant,,ENST00000421116,;SERHL2,downstream_gene_variant,,ENST00000416156,;SERHL2,downstream_gene_variant,,ENST00000534080,;SERHL2,downstream_gene_variant,,ENST00000477564,;SERHL2,downstream_gene_variant,,ENST00000527167,;RRP7B,non_coding_transcript_exon_variant,,ENST00000566851,;	.	47	63	SUCCESS
BIN1	274	.	GRCh37	2	127821169	127821169	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs754167617	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	49	94	0	ENST00000316724.5:c.752del	p.Asn251ThrfsTer6	p.N251Tfs*6	ENST00000316724	NM_139343.2	251	aAc/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS2138.1	752	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGAAGTTTTCC	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10321:SF24,hmmpanther:PTHR10321,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000316779	.	9/19	.	.	.	.	.	.	.	.	rs754167617	9/19	PASS	ENST00000316724	Transcript	.	.	ENSG00000136717	1052	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BIN1_HUMAN	BIN1	HGNC	.	.	UPI0000001303	deletion	BIN1,frameshift_variant,p.Asn251ThrfsTer6,ENST00000351659,;BIN1,frameshift_variant,p.Asn251ThrfsTer6,ENST00000316724,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000393041,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000393040,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000348750,;BIN1,frameshift_variant,p.Asn251ThrfsTer6,ENST00000357970,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000346226,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000409400,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000259238,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000352848,;BIN1,frameshift_variant,p.Asn220ThrfsTer6,ENST00000376113,;BIN1,non_coding_transcript_exon_variant,,ENST00000484253,;BIN1,non_coding_transcript_exon_variant,,ENST00000466111,;	1164	94	162	SUCCESS
ACVR1	90	.	GRCh37	2	158637001	158637001	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764639349	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	55	122	0	ENST00000263640.3:c.179A>G	p.Asn60Ser	p.N60S	ENST00000263640	NM_001105.4	60	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS2206.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGTTGATG	NONE	.	.	Superfamily_domains:SSF57302,Pfam_domain:PF01064,Gene3D:2.10.60.10,hmmpanther:PTHR23255:SF56,hmmpanther:PTHR23255	.	.	ENSP00000263640	.	4/11	.	.	.	.	.	.	.	.	rs764639349	4/11	PASS	ENST00000263640	Transcript	.	.	ENSG00000115170	171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.72)	.	ACVR1_HUMAN	ACVR1	HGNC	D3DPA4_HUMAN,Q53SV1_HUMAN,Q53SF4_HUMAN,F5GY91_HUMAN,C9JW28_HUMAN,C9JHJ7_HUMAN,C9J1R3_HUMAN	.	UPI000000163F	SNV	ACVR1,missense_variant,p.Asn60Ser,ENST00000434821,;ACVR1,missense_variant,p.Asn60Ser,ENST00000263640,;ACVR1,missense_variant,p.Asn60Ser,ENST00000409283,;ACVR1,missense_variant,p.Asn60Ser,ENST00000410057,;ACVR1,missense_variant,p.Asn60Ser,ENST00000424669,;ACVR1,missense_variant,p.Asn60Ser,ENST00000412025,;ACVR1,missense_variant,p.Asn60Ser,ENST00000539637,;ACVR1,missense_variant,p.Asn60Ser,ENST00000440523,;ACVR1,non_coding_transcript_exon_variant,,ENST00000487456,;	609	122	145	SUCCESS
HECW2	57520	.	GRCh37	2	197084796	197084796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	33	115	0	ENST00000260983.3:c.4375A>G	p.Ser1459Gly	p.S1459G	ENST00000260983	NM_020760.1	1459	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS33354.1	4375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTTAGGT	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000260983	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.26)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Ser1459Gly,ENST00000260983,;HECW2,missense_variant,p.Ser1103Gly,ENST00000409111,;snoU13,upstream_gene_variant,,ENST00000459047,;	4558	115	110	SUCCESS
COL6A6	131873	.	GRCh37	3	130286897	130286897	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	41	148	1	ENST00000358511.6:c.1850A>G	p.Lys617Arg	p.K617R	ENST00000358511	NM_001102608.1	617	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46911.1	1850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAAAGAGA	NONE	.	.	hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.15)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Lys617Arg,ENST00000453409,;COL6A6,missense_variant,p.Lys617Arg,ENST00000358511,;	1881	149	113	SUCCESS
ZFYVE20	0	.	GRCh37	3	15115343	15115343	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	50	124	0	ENST00000253699.3:c.2301G>T	p.Glu767Asp	p.E767D	ENST00000253699	NM_022340.2	767	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS2623.1	2301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCTCTGT	NONE	.	.	Superfamily_domains:SSF140125,Pfam_domain:PF11464,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510	.	.	ENSP00000253699	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000253699	Transcript	.	.	ENSG00000131381	20759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	deleterious_low_confidence(0.02)	.	RBNS5_HUMAN	ZFYVE20	HGNC	D6RD50_HUMAN	.	UPI0000051CE0	SNV	ZFYVE20,missense_variant,p.Glu767Asp,ENST00000253699,;ZFYVE20,missense_variant,p.Glu767Asp,ENST00000476527,;ZFYVE20,downstream_gene_variant,,ENST00000483098,;ZFYVE20,downstream_gene_variant,,ENST00000449964,;ZFYVE20,downstream_gene_variant,,ENST00000426541,;	2915	124	128	SUCCESS
EIF4G1	1981	.	GRCh37	3	184049265	184049265	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	57	0	ENST00000346169.2:c.4266G>A	p.Val1422=	p.V1422=	ENST00000346169	NM_198241.2	1422	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54687.1	4287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGGAGTA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.40.180,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10	.	.	ENSP00000416255	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000424196	Transcript	.	.	ENSG00000114867	3296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4G1_HUMAN	EIF4G1	HGNC	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN	.	UPI00015E0966	SNV	EIF4G1,synonymous_variant,p.%3D,ENST00000411531,;EIF4G1,synonymous_variant,p.%3D,ENST00000392537,;EIF4G1,synonymous_variant,p.%3D,ENST00000346169,;EIF4G1,synonymous_variant,p.%3D,ENST00000319274,;EIF4G1,synonymous_variant,p.%3D,ENST00000414031,;EIF4G1,synonymous_variant,p.%3D,ENST00000352767,;EIF4G1,synonymous_variant,p.%3D,ENST00000424196,;EIF4G1,synonymous_variant,p.%3D,ENST00000434061,;EIF4G1,synonymous_variant,p.%3D,ENST00000427845,;EIF4G1,synonymous_variant,p.%3D,ENST00000435046,;EIF4G1,synonymous_variant,p.%3D,ENST00000382330,;EIF4G1,synonymous_variant,p.%3D,ENST00000350481,;EIF4G1,synonymous_variant,p.%3D,ENST00000441154,;EIF4G1,synonymous_variant,p.%3D,ENST00000342981,;EIF2B5,intron_variant,,ENST00000444495,;FAM131A,upstream_gene_variant,,ENST00000340957,;EIF4G1,downstream_gene_variant,,ENST00000448284,;FAM131A,upstream_gene_variant,,ENST00000433578,;FAM131A,upstream_gene_variant,,ENST00000418281,;FAM131A,upstream_gene_variant,,ENST00000450976,;EIF4G1,synonymous_variant,p.%3D,ENST00000422614,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000478291,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000464548,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000460829,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000475721,;EIF4G1,downstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000482303,;	4676	57	61	SUCCESS
ZDHHC19	131540	.	GRCh37	3	195935366	195935366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	84	211	0	ENST00000296326.3:c.474G>A	p.Met158Ile	p.M158I	ENST00000296326	NM_001039617.1	158	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS43190.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCATGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50216,hmmpanther:PTHR22883:SF7,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000296326	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000296326	Transcript	.	.	ENSG00000163958	20713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious(0.03)	.	ZDH19_HUMAN	ZDHHC19	HGNC	B3KVI1_HUMAN	.	UPI00006BFF56	SNV	ZDHHC19,missense_variant,p.Met158Ile,ENST00000296326,;SLC51A,upstream_gene_variant,,ENST00000416660,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000488508,;ZDHHC19,missense_variant,p.Met158Ile,ENST00000438232,;ZDHHC19,missense_variant,p.Met158Ile,ENST00000397544,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000465519,;	554	211	245	SUCCESS
BDH1	622	.	GRCh37	3	197238766	197238766	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	44	149	0	ENST00000358186.2:c.1032A>C	p.Ter344CysextTer26	p.*344Cext*26	ENST00000358186	NM_203315.2	344	tgA/tgC	0	.	.	.	.	.	G	*/C	protein_coding	YES	CCDS3328.1	1032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTCAGCG	NONE	.	.	.	.	.	ENSP00000376184	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000392379	Transcript	.	.	ENSG00000161267	1027	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BDH_HUMAN	BDH1	HGNC	E9PCG9_HUMAN,C9K0G7_HUMAN,C9JQ90_HUMAN,C9JEB9_HUMAN,C9JB83_HUMAN,A1E284_HUMAN	.	UPI0000126875	SNV	BDH1,stop_lost,p.Ter344CysextTer26,ENST00000392379,;BDH1,stop_lost,p.Ter344CysextTer26,ENST00000392378,;BDH1,stop_lost,p.Ter344CysextTer26,ENST00000358186,;BDH1,stop_lost,p.Ter257CysextTer26,ENST00000441275,;BDH1,downstream_gene_variant,,ENST00000434143,;BDH1,downstream_gene_variant,,ENST00000455876,;BDH1,downstream_gene_variant,,ENST00000446746,;BDH1,downstream_gene_variant,,ENST00000432819,;RP13-616I3.1,upstream_gene_variant,,ENST00000608206,;BDH1,downstream_gene_variant,,ENST00000483920,;BDH1,downstream_gene_variant,,ENST00000477015,;BDH1,downstream_gene_variant,,ENST00000479425,;AC128709.1,upstream_gene_variant,,ENST00000395025,;	1434	149	135	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057519886	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	57	229	0	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTCTGGA	SITE|p.S33P|c.97T>C|61,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32V|c.95A>T|41,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.D32E|c.96C>A|3,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5682,COSM5683,COSM27311	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.423)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	377	230	180	SUCCESS
PBRM1	55193	.	GRCh37	3	52588770	52588770	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143564112	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	75	204	0	ENST00000394830.3:c.4258G>T	p.Val1420Leu	p.V1420L	ENST00000394830	NM_018313.4	1420	Gtg/Ttg	0	T:0.0009	T:0.0023	.	T:0	.	A	V/L	protein_coding	YES	CCDS43099.1	4258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACACCTG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16062	T:0	T:0	ENSP00000378307	T:0	27/30	.	.	.	.	.	.	.	.	rs143564112,COSM1235550	27/30	PASS	ENST00000394830	Transcript	.	T:0.0006	ENSG00000163939	30064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	T:0	tolerated(0.21)	0,1	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	SNV	PBRM1,missense_variant,p.Val1420Leu,ENST00000394830,;PBRM1,missense_variant,p.Val1472Leu,ENST00000409057,;PBRM1,missense_variant,p.Val1447Leu,ENST00000410007,;PBRM1,missense_variant,p.Val1440Leu,ENST00000356770,;PBRM1,missense_variant,p.Val1527Leu,ENST00000296302,;PBRM1,intron_variant,,ENST00000409767,;SMIM4,intron_variant,,ENST00000476842,;PBRM1,intron_variant,,ENST00000337303,;PBRM1,intron_variant,,ENST00000409114,;PBRM1,downstream_gene_variant,,ENST00000423351,;RNU6-856P,upstream_gene_variant,,ENST00000516959,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	4358	204	199	SUCCESS
TRAM1L1	133022	.	GRCh37	4	118006517	118006517	+	synonymous_variant	Silent	SNP	G	G	A	rs768931259	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	40	91	0	ENST00000310754.4:c.33C>T	p.Pro11=	p.P11=	ENST00000310754	NM_152402.2	11	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3707.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGGGGGTT	NONE	.	.	hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,PIRSF_domain:PIRSF005449	.	.	ENSP00000309402	.	1/1	.	.	.	.	.	.	.	.	rs768931259	1/1	PASS	ENST00000310754	Transcript	.	.	ENSG00000174599	28371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR1L1_HUMAN	TRAM1L1	HGNC	.	.	UPI000013F075	SNV	TRAM1L1,synonymous_variant,p.%3D,ENST00000310754,;	220	91	56	SUCCESS
QRFPR	84109	.	GRCh37	4	122250816	122250816	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751553958	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	60	138	0	ENST00000394427.2:c.949G>A	p.Val317Met	p.V317M	ENST00000394427	NM_198179.2	317	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3719.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCACGATAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000377948	.	6/6	.	.	.	.	.	.	.	.	rs751553958	6/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,missense_variant,p.Val317Met,ENST00000394427,;QRFPR,3_prime_UTR_variant,,ENST00000334383,;Y_RNA,upstream_gene_variant,,ENST00000384419,;QRFPR,3_prime_UTR_variant,,ENST00000507331,;	1361	138	101	SUCCESS
ADAD1	132612	.	GRCh37	4	123301311	123301311	+	synonymous_variant	Silent	SNP	G	G	A	rs920358064	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	78	130	0	ENST00000296513.2:c.87G>A	p.Ala29=	p.A29=	ENST00000296513	NM_139243.3	29	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34058.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGACAAA	BUFFER|p.T32T|c.96G>A|5	.	.	hmmpanther:PTHR10910:SF44,hmmpanther:PTHR10910	.	.	ENSP00000296513	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000296513	Transcript	.	.	ENSG00000164113	30713	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD1_HUMAN	ADAD1	HGNC	C9JGM6_HUMAN,C9JAT9_HUMAN	.	UPI000006DF76	SNV	ADAD1,synonymous_variant,p.%3D,ENST00000388724,;ADAD1,synonymous_variant,p.%3D,ENST00000296513,;ADAD1,synonymous_variant,p.%3D,ENST00000439307,;ADAD1,synonymous_variant,p.%3D,ENST00000446706,;ADAD1,synonymous_variant,p.%3D,ENST00000388725,;ADAD1,upstream_gene_variant,,ENST00000492454,;ADAD1,non_coding_transcript_exon_variant,,ENST00000464160,;	272	130	117	SUCCESS
ARAP2	116984	.	GRCh37	4	36216083	36216083	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	250	290	0	ENST00000303965.4:c.925A>T	p.Asn309Tyr	p.N309Y	ENST00000303965	NM_015230.3	309	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS3441.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATTTCTTC	NONE	.	.	.	.	.	ENSP00000302895	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000303965	Transcript	.	.	ENSG00000047365	16924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.01)	.	ARAP2_HUMAN	ARAP2	HGNC	D6RAD6_HUMAN	.	UPI000013E917	SNV	ARAP2,missense_variant,p.Asn309Tyr,ENST00000303965,;ARAP2,upstream_gene_variant,,ENST00000511416,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	1415	290	352	SUCCESS
DNAH5	1767	.	GRCh37	5	13770967	13770967	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	70	166	0	ENST00000265104.4:c.9496A>G	p.Arg3166Gly	p.R3166G	ENST00000265104	NM_001369.2	3166	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS3882.1	9496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCTCTGAA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	56/79	.	.	.	.	.	.	.	.	.	56/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.415)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Arg3166Gly,ENST00000265104,;DNAH5,non_coding_transcript_exon_variant,,ENST00000504001,;	9601	166	245	SUCCESS
ARAP3	64411	.	GRCh37	5	141033643	141033643	+	synonymous_variant	Silent	SNP	C	C	A	rs766946715	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	77	116	0	ENST00000239440.4:c.4509G>T	p.Leu1503=	p.L1503=	ENST00000239440	NM_022481.5	1503	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4266.1	4509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCAGGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000239440	.	33/33	.	.	.	.	.	.	.	.	rs766946715	33/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,synonymous_variant,p.%3D,ENST00000508305,;ARAP3,synonymous_variant,p.%3D,ENST00000239440,;ARAP3,synonymous_variant,p.%3D,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000522783,;FCHSD1,upstream_gene_variant,,ENST00000435817,;FCHSD1,upstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000522126,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	4575	116	186	SUCCESS
KIF4B	285643	.	GRCh37	5	154396242	154396242	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs754074497	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	345	75	299	0	ENST00000435029.4:c.2823C>G	p.Ser941Arg	p.S941R	ENST00000435029	NM_001099293.1	941	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS47324.1	2823	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGCCAAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF392,hmmpanther:PTHR24115	.	.	ENSP00000387875	.	1/1	.	.	.	.	.	.	.	.	rs754074497	1/1	PASS	ENST00000435029	Transcript	.	.	ENSG00000226650	6322	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.29)	.	KIF4B_HUMAN	KIF4B	HGNC	.	.	UPI000013D5DB	SNV	KIF4B,missense_variant,p.Ser941Arg,ENST00000435029,;	2983	299	421	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159776748	159776748	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	28	0	ENST00000393975.3:c.420A>G	p.Pro140=	p.P140=	ENST00000393975	NM_031908.4	140	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4351.2	420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTGGTCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF8	.	.	ENSP00000377545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,synonymous_variant,p.%3D,ENST00000393975,;CCNJL,upstream_gene_variant,,ENST00000521643,;	424	28	36	SUCCESS
WWC1	23286	.	GRCh37	5	167891765	167891765	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139653620	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	48	99	0	ENST00000265293.4:c.2948G>A	p.Arg983His	p.R983H	ENST00000265293	NM_001161662.1	983	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS54945.1	2966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCGTCTGA	NONE	byCluster	.	hmmpanther:PTHR14791:SF22,hmmpanther:PTHR14791	.	A:0.0001	ENSP00000427772	.	21/23	.	.	.	.	.	.	.	.	rs139653620,COSM73305,COSM1435871	21/23	PASS	ENST00000521089	Transcript	.	.	ENSG00000113645	29435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.031)	.	tolerated(0.16)	0,1,1	KIBRA_HUMAN	WWC1	HGNC	.	.	UPI00017A7149	SNV	WWC1,missense_variant,p.Arg951His,ENST00000393895,;WWC1,missense_variant,p.Arg760His,ENST00000524228,;WWC1,missense_variant,p.Arg983His,ENST00000265293,;WWC1,missense_variant,p.Arg989His,ENST00000521089,;WWC1,missense_variant,p.Arg315His,ENST00000524038,;WWC1,non_coding_transcript_exon_variant,,ENST00000522140,;WWC1,upstream_gene_variant,,ENST00000521391,;WWC1,upstream_gene_variant,,ENST00000518204,;	2969	99	172	SUCCESS
DOCK2	1794	.	GRCh37	5	169141427	169141427	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	94	252	0	ENST00000256935.8:c.1907A>T	p.Lys636Met	p.K636M	ENST00000256935	NM_004946.2	636	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS4371.1	1907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGTTGA	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	19/52	.	.	.	.	.	.	.	.	.	19/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Lys636Met,ENST00000256935,;DOCK2,missense_variant,p.Lys128Met,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,upstream_gene_variant,,ENST00000520836,;DOCK2,missense_variant,p.Lys636Met,ENST00000524185,;	1987	252	344	SUCCESS
FLT4	2324	.	GRCh37	5	180047636	180047636	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	59	94	0	ENST00000261937.6:c.2379C>G	p.Leu793=	p.L793=	ENST00000261937	NM_182925.4	793	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4457.1	2379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGAGGAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49	.	.	ENSP00000261937	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	2458	94	155	SUCCESS
AMACR	23600	.	GRCh37	5	34005875	34005875	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1561045920	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	57	0	ENST00000335606.6:c.377A>G	p.Tyr126Cys	p.Y126C	ENST00000335606	NM_001167595.1	126	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS54836.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAATAGTTG	NONE	.	.	Superfamily_domains:SSF89796,Pfam_domain:PF02515,Gene3D:3.40.50.10540,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF8	.	.	ENSP00000371517	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000382085	Transcript	1	.	ENSG00000242110	451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	AMACR_HUMAN	AMACR	HGNC	.	.	UPI000020C93C	SNV	AMACR,missense_variant,p.Tyr126Cys,ENST00000441713,;AMACR,missense_variant,p.Tyr126Cys,ENST00000426255,;AMACR,missense_variant,p.Tyr126Cys,ENST00000502637,;AMACR,missense_variant,p.Tyr126Cys,ENST00000382085,;AMACR,missense_variant,p.Tyr126Cys,ENST00000382072,;AMACR,missense_variant,p.Tyr126Cys,ENST00000512079,;AMACR,missense_variant,p.Tyr126Cys,ENST00000382068,;AMACR,missense_variant,p.Tyr126Cys,ENST00000335606,;AMACR,non_coding_transcript_exon_variant,,ENST00000514195,;AMACR,missense_variant,p.Tyr126Cys,ENST00000506639,;RP11-1084J3.4,synonymous_variant,p.%3D,ENST00000382079,;	386	57	54	SUCCESS
SLC9A3	6550	.	GRCh37	5	474998	474998	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	63	0	ENST00000264938.3:c.2501T>A	p.Met834Lys	p.M834K	ENST00000264938	NM_004174.2	834	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS3855.1	2501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACATGTGT	NONE	.	.	.	.	.	ENSP00000264938	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000264938	Transcript	.	.	ENSG00000066230	11073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	deleterious_low_confidence(0)	.	SL9A3_HUMAN	SLC9A3	HGNC	.	.	UPI000013D597	SNV	SLC9A3,missense_variant,p.Met825Lys,ENST00000514375,;SLC9A3,missense_variant,p.Met834Lys,ENST00000264938,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.5,upstream_gene_variant,,ENST00000342584,;CTD-2228K2.7,intron_variant,,ENST00000607286,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606319,;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,upstream_gene_variant,,ENST00000431004,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510714,;EXOC3,downstream_gene_variant,,ENST00000509294,;CTD-2228K2.5,upstream_gene_variant,,ENST00000502511,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,;EXOC3,downstream_gene_variant,,ENST00000515601,;EXOC3,downstream_gene_variant,,ENST00000503889,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;SLC9A3,downstream_gene_variant,,ENST00000507407,;	2511	63	51	SUCCESS
ERCC8	1161	.	GRCh37	5	60217888	60217888	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	82	0	ENST00000265038.5:c.268A>G	p.Ile90Val	p.I90V	ENST00000265038	NM_000082.3	90	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3978.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAATGGAAC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22850,PROSITE_profiles:PS50294	.	.	ENSP00000265038	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000265038	Transcript	1	.	ENSG00000049167	3439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ERCC8_HUMAN	ERCC8	HGNC	G3XAG7_HUMAN,C9JNT2_HUMAN,B3KPW7_HUMAN	.	UPI000000D8F8	SNV	ERCC8,missense_variant,p.Ile90Val,ENST00000265038,;ERCC8,missense_variant,p.Ile32Val,ENST00000439176,;ERCC8,missense_variant,p.Ile32Val,ENST00000426742,;ERCC8,5_prime_UTR_variant,,ENST00000543101,;AC104113.3,downstream_gene_variant,,ENST00000457499,;ERCC8,upstream_gene_variant,,ENST00000495985,;ERCC8,upstream_gene_variant,,ENST00000484330,;ERCC8,3_prime_UTR_variant,,ENST00000381118,;ERCC8,non_coding_transcript_exon_variant,,ENST00000497892,;ERCC8,non_coding_transcript_exon_variant,,ENST00000477893,;	311	82	52	SUCCESS
TNPO1	3842	.	GRCh37	5	72144245	72144245	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	78	0	ENST00000337273.5:c.49G>T	p.Glu17Ter	p.E17*	ENST00000337273	NM_002270.3	17	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43329.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACGAGCAA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	SNV	TNPO1,stop_gained,p.Glu9Ter,ENST00000506351,;TNPO1,stop_gained,p.Glu17Ter,ENST00000454282,;TNPO1,stop_gained,p.Glu17Ter,ENST00000523768,;TNPO1,stop_gained,p.Glu9Ter,ENST00000447967,;TNPO1,stop_gained,p.Glu17Ter,ENST00000337273,;TNPO1,non_coding_transcript_exon_variant,,ENST00000513944,;TNPO1,non_coding_transcript_exon_variant,,ENST00000506528,;TNPO1,non_coding_transcript_exon_variant,,ENST00000511754,;TNPO1,non_coding_transcript_exon_variant,,ENST00000509030,;TNPO1,non_coding_transcript_exon_variant,,ENST00000518279,;TNPO1,non_coding_transcript_exon_variant,,ENST00000515483,;TNPO1,stop_gained,p.Glu17Ter,ENST00000520850,;	475	78	83	SUCCESS
SOX4	6659	.	GRCh37	6	21594807	21594807	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	24	0	ENST00000244745.1:c.42G>A	p.Leu14=	p.L14=	ENST00000244745	NM_003107.2	14	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4547.1	42	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTGCTGGC	NONE	.	.	PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270:SF27,hmmpanther:PTHR10270	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,synonymous_variant,p.%3D,ENST00000244745,;SOX4,synonymous_variant,p.%3D,ENST00000543472,;	836	24	16	SUCCESS
GPR110	0	.	GRCh37	6	46976681	46976681	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	rs753315090	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	54	152	0	ENST00000371253.2:c.2490G>C	p.Gln830His	p.Q830H	ENST00000371253	NM_153840.2	830	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS34471.1	2490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCTGGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000360299	.	11/15	.	.	.	.	.	.	.	.	rs753315090	11/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Gln633His,ENST00000283297,;GPR110,missense_variant,p.Gln830His,ENST00000371253,;GPR110,splice_region_variant,,ENST00000449332,;GPR110,splice_region_variant,,ENST00000419892,;GPR110,downstream_gene_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000475745,;	2706	152	143	SUCCESS
DSP	1832	.	GRCh37	6	7585392	7585392	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1305316361	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	105	0	ENST00000379802.3:c.7897A>G	p.Ile2633Val	p.I2633V	ENST00000379802	NM_004415.2	2633	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4501.1	7897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCATTACA	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Ile2633Val,ENST00000379802,;DSP,missense_variant,p.Ile2034Val,ENST00000418664,;	8238	105	82	SUCCESS
C6ORF165	0	.	GRCh37	6	88128113	88128113	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	62	136	0	ENST00000369562.4:c.819G>T	p.Glu273Asp	p.E273D	ENST00000369562	NM_001031743.2	273	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS34498.1	819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGAGGTCTT	NONE	.	.	Pfam_domain:PF12018,hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	.	.	ENSP00000358575	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000369562	Transcript	.	.	ENSG00000272514	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	deleterious(0.01)	.	.	C6ORF165	Uniprot_gn	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN	.	UPI00001A3AA5	SNV	C6ORF165,missense_variant,p.Glu273Asp,ENST00000369562,;C6ORF165,downstream_gene_variant,,ENST00000480123,;C6orf165,missense_variant,p.Glu273Asp,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;	931	136	157	SUCCESS
HYAL4	23553	.	GRCh37	7	123517143	123517143	+	synonymous_variant	Silent	SNP	T	T	A	rs763220815	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	96	261	0	ENST00000223026.4:c.1380T>A	p.Pro460=	p.P460=	ENST00000223026	NM_012269.2	460	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5789.1	1380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTTCTCC	NONE	.	.	PIRSF_domain:PIRSF038193,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7	.	.	ENSP00000223026	.	5/5	.	.	.	.	.	.	.	.	rs763220815	5/5	PASS	ENST00000223026	Transcript	.	.	ENSG00000106302	5323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYAL4_HUMAN	HYAL4	HGNC	C9JU18_HUMAN,C9J6F9_HUMAN	.	UPI000006F62B	SNV	HYAL4,synonymous_variant,p.%3D,ENST00000223026,;HYAL4,synonymous_variant,p.%3D,ENST00000476325,;HYAL4,3_prime_UTR_variant,,ENST00000483878,;	2018	261	261	SUCCESS
CNOT4	4850	.	GRCh37	7	135123156	135123156	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	34	0	ENST00000315544.5:c.-77C>A		p.*26*	ENST00000315544	NM_001190848.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGTAGGA	NONE	.	.	.	.	.	ENSP00000445508	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	SNV	CNOT4,5_prime_UTR_variant,,ENST00000356162,;CNOT4,5_prime_UTR_variant,,ENST00000541284,;CNOT4,5_prime_UTR_variant,,ENST00000451834,;CNOT4,5_prime_UTR_variant,,ENST00000423368,;CNOT4,5_prime_UTR_variant,,ENST00000361528,;CNOT4,5_prime_UTR_variant,,ENST00000315544,;CNOT4,5_prime_UTR_variant,,ENST00000428680,;CNOT4,upstream_gene_variant,,ENST00000414802,;CNOT4,non_coding_transcript_exon_variant,,ENST00000491203,;CNOT4,non_coding_transcript_exon_variant,,ENST00000465721,;CNOT4,non_coding_transcript_exon_variant,,ENST00000498534,;	255	34	39	SUCCESS
MYO1G	64005	.	GRCh37	7	45002481	45002481	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	23	0	ENST00000258787.7:c.2914C>A	p.Leu972Met	p.L972M	ENST00000258787	NM_033054.2	972	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS34629.1	2914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGGTGC	NONE	.	.	Pfam_domain:PF06017	.	.	ENSP00000258787	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000258787	Transcript	.	.	ENSG00000136286	13880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	MYO1G_HUMAN	MYO1G	HGNC	.	.	UPI00001D747C	SNV	MYO1G,missense_variant,p.Leu972Met,ENST00000258787,;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;	3051	23	48	SUCCESS
SEMA3E	9723	.	GRCh37	7	83037733	83037733	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	61	156	2	ENST00000307792.3:c.621G>A	p.Gly207=	p.G207=	ENST00000307792	NM_012431.2	207	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34674.1	621	RADIA|SOMATICSNIPER|VARSCANS	.	AGTCGCCCCAT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000303212	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,synonymous_variant,p.%3D,ENST00000427262,;SEMA3E,synonymous_variant,p.%3D,ENST00000307792,;SEMA3E,synonymous_variant,p.%3D,ENST00000442159,;	1089	158	180	SUCCESS
STEAP2	261729	.	GRCh37	7	89854615	89854615	+	synonymous_variant	Silent	SNP	G	G	A	rs145786195	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	47	176	0	ENST00000287908.3:c.219G>A	p.Val73=	p.V73=	ENST00000287908	NM_152999.3	73	gtG/gtA	0	T:0	.	.	.	.	A	V	protein_coding	YES	CCDS5615.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTGGTAGA	NONE	byCluster	.	hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF6,Pfam_domain:PF03807,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	T:0.0001	ENSP00000287908	.	2/5	.	.	.	.	.	.	.	.	rs145786195	2/5	PASS	ENST00000287908	Transcript	.	.	ENSG00000157214	17885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STEA2_HUMAN	STEAP2	HGNC	C9JLP2_HUMAN,C9JHX5_HUMAN	.	UPI000013DEE0	SNV	STEAP2,synonymous_variant,p.%3D,ENST00000394629,;STEAP2,synonymous_variant,p.%3D,ENST00000402625,;STEAP2,synonymous_variant,p.%3D,ENST00000394632,;STEAP2,synonymous_variant,p.%3D,ENST00000394621,;STEAP2,synonymous_variant,p.%3D,ENST00000394626,;STEAP2,synonymous_variant,p.%3D,ENST00000287908,;STEAP2,synonymous_variant,p.%3D,ENST00000428074,;STEAP2,synonymous_variant,p.%3D,ENST00000394622,;STEAP2,synonymous_variant,p.%3D,ENST00000426158,;STEAP2,non_coding_transcript_exon_variant,,ENST00000482369,;	612	176	147	SUCCESS
CSMD3	114788	.	GRCh37	8	113988234	113988234	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs557572936	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	291	78	343	0	ENST00000297405.5:c.1174G>A	p.Glu392Lys	p.E392K	ENST00000297405	NM_198123.1	392	Gag/Aag	0	.	T:0	.	T:0	.	T	E/K	protein_coding	YES	CCDS6315.1	1174	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCGGAAA	NONE	by1000G	.	.	T:0.001	.	ENSP00000297405	T:0	7/71	.	.	.	.	.	.	.	.	rs557572936,COSM77532,COSM1454325	7/71	PASS	ENST00000297405	Transcript	.	T:0.0002	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.001)	T:0	tolerated(0.61)	0,1,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Glu392Lys,ENST00000352409,;CSMD3,missense_variant,p.Glu392Lys,ENST00000297405,;CSMD3,missense_variant,p.Glu352Lys,ENST00000343508,;CSMD3,intron_variant,,ENST00000455883,;	1419	343	369	SUCCESS
ZHX1	11244	.	GRCh37	8	124267557	124267557	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	438	115	318	1	ENST00000297857.2:c.630A>G	p.Lys210=	p.K210=	ENST00000297857		210	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS6342.1	630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTTCTC	NONE	.	.	hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467	.	.	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	SNV	ZHX1,synonymous_variant,p.%3D,ENST00000395571,;ZHX1,synonymous_variant,p.%3D,ENST00000522655,;ZHX1,synonymous_variant,p.%3D,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000480132,;ZHX1,downstream_gene_variant,,ENST00000524267,;	1248	319	554	SUCCESS
SLC45A4	57210	.	GRCh37	8	142231707	142231707	+	synonymous_variant	Silent	SNP	G	G	A	rs763316622	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	35	85	0	ENST00000024061.3:c.246C>T	p.Gly82=	p.G82=	ENST00000024061	NM_001080431.1	82	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34948.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACGCCAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473	.	.	ENSP00000024061	.	2/8	.	.	.	.	.	.	.	.	rs763316622	2/8	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,synonymous_variant,p.%3D,ENST00000024061,;SLC45A4,synonymous_variant,p.%3D,ENST00000433583,;SLC45A4,synonymous_variant,p.%3D,ENST00000517878,;SLC45A4,synonymous_variant,p.%3D,ENST00000519067,;SLC45A4,synonymous_variant,p.%3D,ENST00000519986,;SLC45A4,5_prime_UTR_variant,,ENST00000520137,;	554	85	142	SUCCESS
JRK	8629	.	GRCh37	8	143746028	143746028	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	33	0	ENST00000507178.2:n.1783A>G		p.*595*	ENST00000507178				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|VARSCANS	.	CCTCCTCGCCC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000507178	Transcript	1	.	ENSG00000234616	6199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	JRK	HGNC	.	.	.	SNV	JRK,non_coding_transcript_exon_variant,,ENST00000422119,;JRK,non_coding_transcript_exon_variant,,ENST00000507178,;JRK,non_coding_transcript_exon_variant,,ENST00000512113,;JRK,downstream_gene_variant,,ENST00000503272,;JRK,downstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000506774,;	1783	33	36	SUCCESS
EPPK1	83481	.	GRCh37	8	144945358	144945358	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	35	94	0	ENST00000525985.1:c.2064C>A	p.Val688=	p.V688=	ENST00000525985	NM_031308.2	688	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	.	2064	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGACAGC	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,synonymous_variant,p.%3D,ENST00000525985,;	2136	94	186	SUCCESS
SLC39A4	55630	.	GRCh37	8	145641758	145641758	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	9	9	0	ENST00000301305.3:c.192+224G>A		p.*64*	ENST00000301305	NM_130849.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6424.1	.	RADIA|MUTECT|MUSE	.	TTGGCCCTGGG	NONE	.	.	.	.	.	ENSP00000301305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301305	Transcript	1	.	ENSG00000147804	17129	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S39A4_HUMAN	SLC39A4	HGNC	Q9NX22_HUMAN	.	UPI00001AED01	SNV	SLC39A4,5_prime_UTR_variant,,ENST00000276833,;SLC39A4,intron_variant,,ENST00000526658,;SLC39A4,intron_variant,,ENST00000301305,;SLC39A4,upstream_gene_variant,,ENST00000532718,;SLC39A4,upstream_gene_variant,,ENST00000527148,;SLC39A4,upstream_gene_variant,,ENST00000531013,;SLC39A4,upstream_gene_variant,,ENST00000530807,;SLC39A4,upstream_gene_variant,,ENST00000531789,;SLC39A4,upstream_gene_variant,,ENST00000529462,;	.	9	10	SUCCESS
HGSNAT	138050	.	GRCh37	8	43033222	43033222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	108	320	0	ENST00000379644.4:c.857T>A	p.Val286Glu	p.V286E	ENST00000379644	NM_152419.2	286	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47852.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGTATTTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2,Pfam_domain:PF07786	.	.	ENSP00000368965	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000379644	Transcript	1	.	ENSG00000165102	26527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	HGNAT_HUMAN	HGSNAT	HGNC	.	.	UPI000057A06E	SNV	HGSNAT,missense_variant,p.Val33Glu,ENST00000522082,;HGSNAT,missense_variant,p.Val314Glu,ENST00000458501,;HGSNAT,missense_variant,p.Val286Glu,ENST00000379644,;HGSNAT,upstream_gene_variant,,ENST00000521576,;HGSNAT,upstream_gene_variant,,ENST00000297798,;HGSNAT,upstream_gene_variant,,ENST00000524016,;HGSNAT,upstream_gene_variant,,ENST00000520678,;HGSNAT,upstream_gene_variant,,ENST00000519000,;HGSNAT,downstream_gene_variant,,ENST00000520704,;	899	320	187	SUCCESS
MCPH1	79648	.	GRCh37	8	6296583	6296583	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	113	0	ENST00000344683.5:c.546G>A	p.Glu182=	p.E182=	ENST00000344683	NM_024596.3	182	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS43689.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGATGAA	NONE	.	.	hmmpanther:PTHR14625:SF3,hmmpanther:PTHR14625	.	.	ENSP00000342924	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000344683	Transcript	1	.	ENSG00000147316	6954	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MCPH1	HGNC	Q6W7E5_HUMAN,Q6RBX4_HUMAN,Q6RBQ8_HUMAN,Q6RBJ2_HUMAN,Q6RBC6_HUMAN,Q6RB60_HUMAN,Q6RAZ4_HUMAN,Q6RAP8_HUMAN,Q6RAB6_HUMAN,Q6RA50_HUMAN	.	UPI000020FF7E	SNV	MCPH1,synonymous_variant,p.%3D,ENST00000519480,;MCPH1,synonymous_variant,p.%3D,ENST00000344683,;MCPH1,intron_variant,,ENST00000522905,;	622	113	88	SUCCESS
YTHDF3	253943	.	GRCh37	8	64098980	64098980	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	545	161	356	0	ENST00000539294.1:c.408G>A	p.Gly136=	p.G136=	ENST00000539294	NM_001277817.1	136	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGACAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12357:SF9,hmmpanther:PTHR12357	.	.	ENSP00000473496	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000539294	Transcript	.	.	ENSG00000185728	26465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	YTHDF3	HGNC	R4GN55_HUMAN,R4GMX0_HUMAN	.	UPI0002C8850B	SNV	YTHDF3,synonymous_variant,p.%3D,ENST00000539294,;YTHDF3,5_prime_UTR_variant,,ENST00000542911,;YTHDF3,intron_variant,,ENST00000517371,;YTHDF3,upstream_gene_variant,,ENST00000518373,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000523455,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000518438,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000520640,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000521547,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000521674,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000517303,;YTHDF3,downstream_gene_variant,,ENST00000523056,;YTHDF3,downstream_gene_variant,,ENST00000518763,;YTHDF3,downstream_gene_variant,,ENST00000517375,;YTHDF3,3_prime_UTR_variant,,ENST00000524135,;	724	356	707	SUCCESS
PREX2	80243	.	GRCh37	8	68939468	68939468	+	synonymous_variant	Silent	SNP	G	G	T	rs747847529	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	41	139	0	ENST00000288368.4:c.453G>T	p.Leu151=	p.L151=	ENST00000288368	NM_024870.2	151	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6201.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGCTTGG	BUFFER|p.R155Q|c.464G>A|3,BUFFER|p.R155Q|c.464G>A|3	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000288368	.	5/40	.	.	.	.	.	.	.	.	rs747847529	5/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	730	139	176	SUCCESS
TRPA1	8989	.	GRCh37	8	72966074	72966074	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	20	72	0	ENST00000262209.4:c.1558C>G	p.His520Asp	p.H520D	ENST00000262209	NM_007332.2	520	Cat/Gat	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS34908.1	1558	RADIA|MUTECT|MUSE|VARSCANS	.	CGCATGATGCA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.446)	.	deleterious(0.01)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.His372Asp,ENST00000523582,;TRPA1,missense_variant,p.His520Asp,ENST00000262209,;RP11-383H13.1,downstream_gene_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,downstream_gene_variant,,ENST00000512290,;TRPA1,non_coding_transcript_exon_variant,,ENST00000520788,;RP11-383H13.1,intron_variant,,ENST00000519068,;RP11-383H13.1,downstream_gene_variant,,ENST00000522519,;	1766	72	127	SUCCESS
ZFHX4	79776	.	GRCh37	8	77767241	77767241	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	31	77	0	ENST00000521891.2:c.8084G>T	p.Arg2695Leu	p.R2695L	ENST00000521891	NM_024721.4	2695	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS47878.2	8084	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGCTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	COSM1101791	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.986)	.	.	1	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Arg2650Leu,ENST00000455469,;ZFHX4,missense_variant,p.Arg2669Leu,ENST00000518282,;ZFHX4,missense_variant,p.Arg2650Leu,ENST00000050961,;ZFHX4,missense_variant,p.Arg2695Leu,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	8532	77	154	SUCCESS
RAPGEF1	2889	.	GRCh37	9	134497245	134497245	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	64	134	0	ENST00000372189.3:c.1792G>A	p.Gly598Arg	p.G598R	ENST00000372189	NM_005312.2	598	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS48048.1	1846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCACTGA	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40	.	.	ENSP00000361264	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000372190	Transcript	.	.	ENSG00000107263	4568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.323)	.	tolerated(0.07)	.	RPGF1_HUMAN	RAPGEF1	HGNC	Q5JUE5_HUMAN	.	UPI0000074689	SNV	RAPGEF1,missense_variant,p.Gly616Arg,ENST00000372190,;RAPGEF1,missense_variant,p.Gly57Arg,ENST00000419442,;RAPGEF1,missense_variant,p.Gly615Arg,ENST00000372195,;RAPGEF1,missense_variant,p.Gly598Arg,ENST00000372189,;RAPGEF1,upstream_gene_variant,,ENST00000414781,;RAPGEF1,downstream_gene_variant,,ENST00000481260,;	2005	134	108	SUCCESS
CACNA1B	774	.	GRCh37	9	140901281	140901281	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	126	282	0	ENST00000371372.1:c.2037C>G	p.Val679=	p.V679=	ENST00000371372	NM_001243812.1	679	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS59522.1	2037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTCAGCAA	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	16/47	.	.	.	.	.	.	.	.	.	16/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,synonymous_variant,p.%3D,ENST00000371355,;CACNA1B,synonymous_variant,p.%3D,ENST00000371357,;CACNA1B,synonymous_variant,p.%3D,ENST00000277551,;CACNA1B,synonymous_variant,p.%3D,ENST00000371363,;CACNA1B,synonymous_variant,p.%3D,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;CACNA1B,upstream_gene_variant,,ENST00000277550,;	2182	282	187	SUCCESS
ARID3C	138715	.	GRCh37	9	34623647	34623647	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	40	0	ENST00000378909.2:c.640C>A	p.Gln214Lys	p.Q214K	ENST00000378909	NM_001017363.1	214	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS35006.1	640	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGGAGCT	NONE	.	.	hmmpanther:PTHR15348,Gene3D:1.10.150.60,Superfamily_domains:SSF46774	.	.	ENSP00000368189	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000378909	Transcript	.	.	ENSG00000205143	21209	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.078)	.	deleterious(0.04)	.	ARI3C_HUMAN	ARID3C	HGNC	.	.	UPI0000509F06	SNV	ARID3C,missense_variant,p.Gln214Lys,ENST00000378909,;DCTN3,upstream_gene_variant,,ENST00000447983,;DCTN3,upstream_gene_variant,,ENST00000378916,;DCTN3,upstream_gene_variant,,ENST00000378911,;DCTN3,upstream_gene_variant,,ENST00000341694,;DCTN3,upstream_gene_variant,,ENST00000378913,;DCTN3,upstream_gene_variant,,ENST00000421919,;DCTN3,upstream_gene_variant,,ENST00000259632,;DCTN3,upstream_gene_variant,,ENST00000477738,;	733	40	28	SUCCESS
TRPM6	140803	.	GRCh37	9	77400791	77400791	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs142068228	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	51	138	1	ENST00000360774.1:c.2918T>C	p.Met973Thr	p.M973T	ENST00000360774	NM_017662.4	973	aTg/aCg	0	G:0	.	.	.	.	G	M/T	protein_coding	YES	CCDS6647.1	2918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCATTTTT	NONE	byCluster	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	G:0.0002	ENSP00000354006	.	21/39	.	.	.	.	.	.	.	.	rs142068228	21/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.392)	.	deleterious(0)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Met973Thr,ENST00000451710,;TRPM6,missense_variant,p.Met968Thr,ENST00000449912,;TRPM6,missense_variant,p.Met968Thr,ENST00000361255,;TRPM6,missense_variant,p.Met973Thr,ENST00000376864,;TRPM6,missense_variant,p.Met973Thr,ENST00000360774,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;	3156	139	86	SUCCESS
SPATA31D3	389762	.	GRCh37	9	84564460	84564460	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	70	0	ENST00000334208.4:n.4319C>G		p.*1440*	ENST00000334208				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCATAGA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000592744,;RP11-383M4.6,intron_variant,,ENST00000585776,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000334208,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000445385,;	.	70	20	SUCCESS
SPATA31C1	441452	.	GRCh37	9	90535228	90535228	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	154	387	0	ENST00000420021.2:n.703G>A		p.*235*	ENST00000420021				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGGTGAG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000420021	Transcript	.	.	ENSG00000230246	27846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31C1	HGNC	.	.	.	SNV	SPATA31C1,non_coding_transcript_exon_variant,,ENST00000602681,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000437823,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000420021,;	703	387	265	SUCCESS
PLP1	5354	.	GRCh37	X	103041518	103041518	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	124	203	0	ENST00000418604.1:c.316A>G	p.Thr106Ala	p.T106A	ENST00000418604	NM_001128834.1	106	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14513.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGACCACC	NONE	.	.	hmmpanther:PTHR11683:SF11,hmmpanther:PTHR11683,Pfam_domain:PF01275,Prints_domain:PR00214	.	.	ENSP00000405750	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.23)	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	SNV	PLP1,missense_variant,p.Thr106Ala,ENST00000455268,;PLP1,missense_variant,p.Thr106Ala,ENST00000429977,;PLP1,missense_variant,p.Thr106Ala,ENST00000434483,;PLP1,missense_variant,p.Thr106Ala,ENST00000422393,;PLP1,missense_variant,p.Thr106Ala,ENST00000361621,;PLP1,missense_variant,p.Thr106Ala,ENST00000303958,;PLP1,missense_variant,p.Thr106Ala,ENST00000443502,;PLP1,missense_variant,p.Thr106Ala,ENST00000418604,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000485931,;PLP1,non_coding_transcript_exon_variant,,ENST00000494475,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000476160,;PLP1,intron_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,upstream_gene_variant,,ENST00000494119,;PLP1,upstream_gene_variant,,ENST00000466486,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	596	203	163	SUCCESS
RBMXL3	139804	.	GRCh37	X	114424168	114424168	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	49	66	0	ENST00000424776.3:c.164C>A	p.Thr55Asn	p.T55N	ENST00000424776	NM_001145346.1	55	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS55478.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCACCTTCG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Thr55Asn,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	206	66	55	SUCCESS
PDK3	5165	.	GRCh37	X	24549826	24549826	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	319	16	259	0	ENST00000379162.4:c.1016A>C	p.Gln339Pro	p.Q339P	ENST00000379162	NM_005391.4	339	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS48088.1	1016	MUTECT|MUSE	.	TTTTCAAGGAG	NONE	.	.	PROSITE_profiles:PS50109,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF21,Pfam_domain:PF02518,Gene3D:3.30.565.10,SMART_domains:SM00387,Superfamily_domains:SSF55874	.	.	ENSP00000387536	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000441463	Transcript	.	.	ENSG00000067992	8811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.818)	.	deleterious(0.01)	.	PDK3_HUMAN	PDK3	HGNC	.	.	UPI00002124D4	SNV	PDK3,missense_variant,p.Gln339Pro,ENST00000379162,;PDK3,missense_variant,p.Gln339Pro,ENST00000441463,;	1016	259	335	SUCCESS
TGIF2LX	90316	.	GRCh37	X	89177754	89177754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	192	169	0	ENST00000283891.5:c.670G>A	p.Ala224Thr	p.A224T	ENST00000283891	NM_138960.3	224	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14459.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGCAGTA	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	.	.	ENSP00000453704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000561129	Transcript	.	.	ENSG00000153779	18570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	TF2LX_HUMAN	TGIF2LX	HGNC	.	.	UPI0000074793	SNV	TGIF2LX,missense_variant,p.Ala224Thr,ENST00000283891,;TGIF2LX,missense_variant,p.Ala224Thr,ENST00000561129,;	800	169	243	SUCCESS
SHROOM2	357	.	GRCh37	X	9863964	9863964	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	30	0	ENST00000380913.3:c.2016G>T	p.Gln672His	p.Q672H	ENST00000380913	NM_001649.2	672	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS14135.1	2016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGGAAGG	NONE	.	.	hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8,Pfam_domain:PF08688	.	.	ENSP00000370299	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000380913	Transcript	.	.	ENSG00000146950	630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	deleterious(0.03)	.	SHRM2_HUMAN	SHROOM2	HGNC	F5H3B6_HUMAN,C9IZC6_HUMAN	.	UPI0000125D05	SNV	SHROOM2,missense_variant,p.Gln672His,ENST00000380913,;SHROOM2,upstream_gene_variant,,ENST00000493668,;	2106	30	27	SUCCESS
DMBT1	1755	.	GRCh37	10	124329720	124329720	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	32	161	0	ENST00000338354.3:c.134C>T	p.Ala45Val	p.A45V	ENST00000338354		45	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44490.1	134	RADIA|MUTECT|MUSE	.	TGTAGCAGAAG	NONE	.	.	.	.	.	ENSP00000357905	.	3/53	.	.	.	.	.	.	.	.	.	3/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.1)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Ala45Val,ENST00000368956,;DMBT1,missense_variant,p.Ala45Val,ENST00000359586,;DMBT1,missense_variant,p.Ala45Val,ENST00000330163,;DMBT1,missense_variant,p.Ala45Val,ENST00000344338,;DMBT1,missense_variant,p.Ala45Val,ENST00000368955,;DMBT1,missense_variant,p.Ala45Val,ENST00000368909,;DMBT1,missense_variant,p.Ala45Val,ENST00000338354,;	240	161	145	SUCCESS
RPP30	10556	.	GRCh37	10	92638835	92638835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	114	0	ENST00000371703.3:c.286A>G	p.Arg96Gly	p.R96G	ENST00000371703	NM_006413.4	96	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS44458.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAAGGGCC	NONE	.	.	hmmpanther:PTHR13031,Pfam_domain:PF01876,Gene3D:3.20.20.140,Superfamily_domains:SSF89550	.	.	ENSP00000389182	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000413330	Transcript	.	.	ENSG00000148688	17688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.43)	.	RPP30_HUMAN	RPP30	HGNC	.	.	UPI00001F9394	SNV	RPP30,missense_variant,p.Arg50Gly,ENST00000414836,;RPP30,missense_variant,p.Arg96Gly,ENST00000413330,;RPP30,missense_variant,p.Arg118Gly,ENST00000277882,;RPP30,missense_variant,p.Arg96Gly,ENST00000371703,;Y_RNA,downstream_gene_variant,,ENST00000410373,;RPP30,non_coding_transcript_exon_variant,,ENST00000466462,;RPP30,non_coding_transcript_exon_variant,,ENST00000487998,;	321	114	72	SUCCESS
ATM	472	.	GRCh37	11	108218075	108218075	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	110	228	0	ENST00000278616.4:c.8654T>A	p.Leu2885His	p.L2885H	ENST00000278616	NM_000051.3	2885	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS31669.1	8654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTTGTAC	BUFFER|p.I2888T|c.8663T>C|4	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:1.10.1070.11,Pfam_domain:PF00454,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS50290	.	.	ENSP00000278616	.	59/63	.	.	.	.	.	.	.	.	.	59/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Leu2885His,ENST00000278616,;ATM,missense_variant,p.Leu2885His,ENST00000452508,;C11orf65,intron_variant,,ENST00000524755,;C11orf65,intron_variant,,ENST00000525729,;ATM,non_coding_transcript_exon_variant,,ENST00000525178,;C11orf65,intron_variant,,ENST00000526725,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;C11orf65,intron_variant,,ENST00000527531,;	9039	228	231	SUCCESS
FOXRED1	55572	.	GRCh37	11	126139257	126139257	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	69	191	0	ENST00000263578.5:c.85+71G>T		p.*29*	ENST00000263578	NM_017547.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8471.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGACCCG	NONE	.	.	.	.	.	ENSP00000263578	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263578	Transcript	.	.	ENSG00000110074	26927	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXRD1_HUMAN	FOXRED1	HGNC	B4DXM1_HUMAN,B4DQI0_HUMAN	.	UPI0000037C04	SNV	FOXRED1,5_prime_UTR_variant,,ENST00000532125,;FOXRED1,intron_variant,,ENST00000442061,;FOXRED1,intron_variant,,ENST00000263578,;SRPR,upstream_gene_variant,,ENST00000532259,;SRPR,upstream_gene_variant,,ENST00000332118,;FOXRED1,intron_variant,,ENST00000533839,;FOXRED1,intron_variant,,ENST00000534011,;FOXRED1,intron_variant,,ENST00000526366,;SRPR,upstream_gene_variant,,ENST00000530680,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000526525,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000524751,;FOXRED1,intron_variant,,ENST00000527004,;FOXRED1,intron_variant,,ENST00000525770,;FOXRED1,intron_variant,,ENST00000532101,;FOXRED1,intron_variant,,ENST00000525083,;FOXRED1,intron_variant,,ENST00000529802,;FOXRED1,upstream_gene_variant,,ENST00000533395,;SRPR,upstream_gene_variant,,ENST00000531104,;SRPR,upstream_gene_variant,,ENST00000527817,;SRPR,upstream_gene_variant,,ENST00000532268,;FOXRED1,upstream_gene_variant,,ENST00000527875,;FOXRED1,upstream_gene_variant,,ENST00000534315,;FOXRED1,upstream_gene_variant,,ENST00000531257,;SRPR,upstream_gene_variant,,ENST00000528744,;FOXRED1,upstream_gene_variant,,ENST00000530642,;	.	191	141	SUCCESS
SLC17A6	57084	.	GRCh37	11	22398984	22398984	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	51	303	0	ENST00000263160.3:c.1447G>A	p.Ala483Thr	p.A483T	ENST00000263160	NM_020346.2	483	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7856.1	1447	RADIA|MUTECT|MUSE|VARSCANS	.	TGATCGCTGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000263160	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.235)	.	deleterious(0)	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,missense_variant,p.Ala483Thr,ENST00000263160,;	1884	303	269	SUCCESS
ACCS	84680	.	GRCh37	11	44089261	44089262	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	102	0	ENST00000263776.8:c.88dup	p.Glu30GlyfsTer23	p.E30Gfs*23	ENST00000263776	NM_032592.3	28	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS7907.1	84-85	VARSCANI*|PINDEL	.	AGCCATGGGGA	NONE	.	.	.	.	.	ENSP00000263776	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000263776	Transcript	.	.	ENSG00000110455	23989	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	1A1L1_HUMAN	ACCS	HGNC	E9PS61_HUMAN,E9PRT9_HUMAN	.	UPI000006D45A	insertion	ACCS,frameshift_variant,p.Glu30GlyfsTer23,ENST00000524990,;ACCS,frameshift_variant,p.Glu30GlyfsTer23,ENST00000432284,;ACCS,frameshift_variant,p.Glu30GlyfsTer23,ENST00000533404,;ACCS,frameshift_variant,p.Glu30GlyfsTer23,ENST00000263776,;CTD-2609K8.3,upstream_gene_variant,,ENST00000531268,;ACCS,non_coding_transcript_exon_variant,,ENST00000533208,;ACCS,non_coding_transcript_exon_variant,,ENST00000526577,;ACCS,non_coding_transcript_exon_variant,,ENST00000527603,;	518-519	102	94	SUCCESS
OR52M1	119772	.	GRCh37	11	4567048	4567048	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	255	70	296	0	ENST00000360213.1:c.628T>C	p.Leu210=	p.L210=	ENST00000360213	NM_001004137.1	210	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31353.1	628	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTTGATC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF129,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000353343	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360213	Transcript	.	.	ENSG00000197790	15225	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O52M1_HUMAN	OR52M1	HGNC	.	.	UPI0000041C62	SNV	OR52M1,synonymous_variant,p.%3D,ENST00000360213,;	628	296	325	SUCCESS
OR51G1	79324	.	GRCh37	11	4945133	4945133	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	42	0	ENST00000321961.2:c.437T>C	p.Met146Thr	p.M146T	ENST00000321961	NM_001005237.1	146	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS31366.1	437	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCATCTTG	BUFFER|p.S149R|c.445A>C|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	deleterious(0.02)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Met146Thr,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	505	42	44	SUCCESS
ZDHHC5	25921	.	GRCh37	11	57466174	57466174	+	synonymous_variant	Silent	SNP	C	C	T	rs1242588732	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	102	0	ENST00000287169.3:c.1266C>T	p.Ser422=	p.S422=	ENST00000287169	NM_015457.2	422	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7965.1	1266	RADIA|MUTECT|MUSE|VARSCANS	.	CTATCCAGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12349,hmmpanther:PTHR12349:SF3	.	.	ENSP00000287169	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000287169	Transcript	.	.	ENSG00000156599	18472	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZDHC5_HUMAN	ZDHHC5	HGNC	E9PMA5_HUMAN,E9PJ97_HUMAN	.	UPI0000049DA3	SNV	ZDHHC5,synonymous_variant,p.%3D,ENST00000287169,;ZDHHC5,synonymous_variant,p.%3D,ENST00000529447,;ZDHHC5,synonymous_variant,p.%3D,ENST00000527985,;ZDHHC5,non_coding_transcript_exon_variant,,ENST00000529480,;	2628	102	104	SUCCESS
LRRC32	2615	.	GRCh37	11	76371941	76371941	+	synonymous_variant	Silent	SNP	G	G	T	rs180783243	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	74	0	ENST00000260061.5:c.696C>A	p.Ala232=	p.A232=	ENST00000260061	NM_001128922.1	232	gcC/gcA	0	C:0.0002	C:0.0008	.	C:0	.	T	A	protein_coding	YES	CCDS8245.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGGCCTC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365:SF237,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	C:0	C:0	ENSP00000384126	C:0	3/3	.	.	.	.	.	.	.	.	rs180783243	3/3	PASS	ENST00000407242	Transcript	.	C:0.0002	ENSG00000137507	4161	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	LRC32_HUMAN	LRRC32	HGNC	C9JYU3_HUMAN	.	UPI000012B0DF	SNV	LRRC32,synonymous_variant,p.%3D,ENST00000260061,;LRRC32,synonymous_variant,p.%3D,ENST00000407242,;LRRC32,synonymous_variant,p.%3D,ENST00000404995,;LRRC32,downstream_gene_variant,,ENST00000421973,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	939	74	70	SUCCESS
KLRK1	22914	.	GRCh37	12	10541374	10541374	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	61	0	ENST00000240618.6:c.36C>T	p.Ser12=	p.S12=	ENST00000240618	NM_007360.3	12	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS8623.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGCTGTG	NONE	.	.	.	.	.	ENSP00000240618	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000240618	Transcript	.	.	ENSG00000213809	18788	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2D_HUMAN	KLRK1	HGNC	Q8WZ67_HUMAN	.	UPI000013CAB1	SNV	KLRK1,synonymous_variant,p.%3D,ENST00000540818,;KLRK1,synonymous_variant,p.%3D,ENST00000240618,;RP11-277P12.20,intron_variant,,ENST00000500682,;KLRK1,synonymous_variant,p.%3D,ENST00000396451,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585507,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588263,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588447,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591937,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590323,;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRC4-KLRK1,intron_variant,,ENST00000591546,;	177	61	44	SUCCESS
OAS1	4938	.	GRCh37	12	113344971	113344971	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	85	303	0	ENST00000202917.5:c.127G>T	p.Glu43Ter	p.E43*	ENST00000202917	NM_016816.2	43	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31905.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGAAAGG	NONE	.	.	PROSITE_profiles:PS50152,hmmpanther:PTHR11258:SF13,hmmpanther:PTHR11258,Gene3D:3.30.460.10,Superfamily_domains:SSF81301	.	.	ENSP00000388001	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000445409	Transcript	.	.	ENSG00000089127	8086	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OAS1_HUMAN	OAS1	HGNC	Q1P9K4_HUMAN	.	UPI00005B2E03	SNV	OAS1,stop_gained,p.Glu43Ter,ENST00000452357,;OAS1,stop_gained,p.Glu43Ter,ENST00000445409,;OAS1,stop_gained,p.Glu43Ter,ENST00000202917,;OAS1,stop_gained,p.Glu39Ter,ENST00000550689,;OAS1,stop_gained,p.Glu43Ter,ENST00000553185,;OAS1,stop_gained,p.Glu43Ter,ENST00000551241,;OAS1,stop_gained,p.Glu43Ter,ENST00000550883,;RP1-71H24.1,downstream_gene_variant,,ENST00000552784,;OAS1,non_coding_transcript_exon_variant,,ENST00000549820,;	384	303	272	SUCCESS
PIWIL1	9271	.	GRCh37	12	130830386	130830386	+	synonymous_variant	Silent	SNP	A	A	G	rs752244660	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	27	142	0	ENST00000245255.3:c.279A>G	p.Thr93=	p.T93=	ENST00000245255	NM_004764.4	93	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9268.1	279	RADIA|MUTECT|MUSE|VARSCANS	.	AATACAAGGCA	NONE	byFrequency	.	Pfam_domain:PF05831,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31	.	.	ENSP00000245255	.	4/21	.	.	.	.	.	.	.	.	rs752244660	4/21	PASS	ENST00000245255	Transcript	.	.	ENSG00000125207	9007	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PIWL1_HUMAN	PIWIL1	HGNC	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN	.	UPI000007059F	SNV	PIWIL1,synonymous_variant,p.%3D,ENST00000546060,;PIWIL1,synonymous_variant,p.%3D,ENST00000542723,;PIWIL1,synonymous_variant,p.%3D,ENST00000539995,;PIWIL1,synonymous_variant,p.%3D,ENST00000539400,;PIWIL1,synonymous_variant,p.%3D,ENST00000245255,;PIWIL1,synonymous_variant,p.%3D,ENST00000535956,;PIWIL1,5_prime_UTR_variant,,ENST00000540672,;	551	142	151	SUCCESS
POLE	5426	.	GRCh37	12	133240672	133240672	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	52	225	0	ENST00000320574.5:c.2624A>C	p.Asn875Thr	p.N875T	ENST00000320574	NM_006231.2	875	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS9278.1	2624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATTTTCT	NONE	.	.	hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0,Pfam_domain:PF00136,Superfamily_domains:SSF56672	.	.	ENSP00000322570	.	23/49	.	.	.	.	.	.	.	.	.	23/49	PASS	ENST00000320574	Transcript	.	.	ENSG00000177084	9177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.08)	.	DPOE1_HUMAN	POLE	HGNC	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN	.	UPI00001FBF97	SNV	POLE,missense_variant,p.Asn875Thr,ENST00000320574,;POLE,missense_variant,p.Asn848Thr,ENST00000535270,;POLE,missense_variant,p.Asn655Thr,ENST00000539006,;POLE,upstream_gene_variant,,ENST00000536445,;POLE,3_prime_UTR_variant,,ENST00000537064,;	2668	225	189	SUCCESS
CACNA1C	775	.	GRCh37	12	2788717	2788717	+	synonymous_variant	Silent	SNP	G	G	A	rs200638007	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	40	0	ENST00000347598.4:c.5343G>A	p.Ala1781=	p.A1781=	ENST00000347598	NM_199460.2	1781	gcG/gcA	0	A:0.0012	A:0.0038	.	A:0	.	A	A	protein_coding	YES	CCDS44788.1	5343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCGGGCAG	BUFFER|p.A1811V|c.5432C>T|3,BUFFER|p.A1774V|c.5321C>T|3,BUFFER|p.A1268V|c.3803C>T|3,BUFFER|p.A1781V|c.5342C>T|3,BUFFER|p.A1733V|c.5198C>T|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188	A:0	A:0.0001	ENSP00000266376	A:0	44/49	.	.	.	.	.	.	.	.	rs200638007,COSM79593,COSM79592	44/49	PASS	ENST00000347598	Transcript	.	A:0.0010	ENSG00000151067	1390	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0	.	0,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,synonymous_variant,p.%3D,ENST00000399644,;CACNA1C,synonymous_variant,p.%3D,ENST00000399595,;CACNA1C,synonymous_variant,p.%3D,ENST00000406454,;CACNA1C,synonymous_variant,p.%3D,ENST00000399617,;CACNA1C,synonymous_variant,p.%3D,ENST00000347598,;CACNA1C,synonymous_variant,p.%3D,ENST00000402845,;CACNA1C,synonymous_variant,p.%3D,ENST00000327702,;CACNA1C,synonymous_variant,p.%3D,ENST00000399634,;CACNA1C,synonymous_variant,p.%3D,ENST00000399641,;CACNA1C,synonymous_variant,p.%3D,ENST00000399603,;CACNA1C,synonymous_variant,p.%3D,ENST00000399629,;CACNA1C,synonymous_variant,p.%3D,ENST00000399601,;CACNA1C,synonymous_variant,p.%3D,ENST00000399597,;CACNA1C,synonymous_variant,p.%3D,ENST00000399655,;CACNA1C,synonymous_variant,p.%3D,ENST00000399606,;CACNA1C,synonymous_variant,p.%3D,ENST00000399637,;CACNA1C,synonymous_variant,p.%3D,ENST00000335762,;CACNA1C,synonymous_variant,p.%3D,ENST00000399591,;CACNA1C,synonymous_variant,p.%3D,ENST00000399621,;CACNA1C,synonymous_variant,p.%3D,ENST00000399638,;CACNA1C,synonymous_variant,p.%3D,ENST00000344100,;CACNA1C,synonymous_variant,p.%3D,ENST00000399649,;CACNA1C-AS1,intron_variant,,ENST00000501371,;CACNA1C,downstream_gene_variant,,ENST00000465934,;	5343	40	62	SUCCESS
GALNT6	11226	.	GRCh37	12	51773444	51773444	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1324961687	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	90	0	ENST00000356317.3:c.122C>T	p.Pro41Leu	p.P41L	ENST00000356317	NM_007210.3	41	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8813.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGGCTTC	NONE	.	.	hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675	.	.	ENSP00000444171	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious_low_confidence(0)	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,missense_variant,p.Pro41Leu,ENST00000605617,;GALNT6,missense_variant,p.Pro41Leu,ENST00000356317,;GALNT6,missense_variant,p.Pro41Leu,ENST00000604381,;GALNT6,missense_variant,p.Pro41Leu,ENST00000604847,;GALNT6,missense_variant,p.Pro41Leu,ENST00000603188,;GALNT6,missense_variant,p.Pro41Leu,ENST00000603563,;GALNT6,missense_variant,p.Pro41Leu,ENST00000543196,;GALNT6,missense_variant,p.Pro41Leu,ENST00000604426,;GALNT6,downstream_gene_variant,,ENST00000604506,;GALNT6,downstream_gene_variant,,ENST00000605055,;GALNT6,downstream_gene_variant,,ENST00000605138,;GALNT6,downstream_gene_variant,,ENST00000603203,;GALNT6,downstream_gene_variant,,ENST00000605720,;GALNT6,downstream_gene_variant,,ENST00000605089,;GALNT6,downstream_gene_variant,,ENST00000603482,;GALNT6,downstream_gene_variant,,ENST00000605822,;GALNT6,downstream_gene_variant,,ENST00000605367,;GALNT6,missense_variant,p.Pro41Leu,ENST00000603641,;	328	90	88	SUCCESS
ERBB3	2065	.	GRCh37	12	56487230	56487230	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	132	0	ENST00000267101.3:c.1376A>G	p.Asn459Ser	p.N459S	ENST00000267101	NM_001982.3	459	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31833.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAATAGGC	NONE	.	.	hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058	.	.	ENSP00000267101	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,missense_variant,p.Asn400Ser,ENST00000415288,;ERBB3,missense_variant,p.Asn459Ser,ENST00000267101,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,upstream_gene_variant,,ENST00000553131,;ERBB3,upstream_gene_variant,,ENST00000550070,;ERBB3,upstream_gene_variant,,ENST00000549832,;ERBB3,missense_variant,p.Asn459Ser,ENST00000551085,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,upstream_gene_variant,,ENST00000549644,;ERBB3,upstream_gene_variant,,ENST00000550828,;ERBB3,upstream_gene_variant,,ENST00000549205,;ERBB3,downstream_gene_variant,,ENST00000551176,;ERBB3,upstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000546748,;	1816	132	92	SUCCESS
C1S	716	.	GRCh37	12	7169973	7169973	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs782615357	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	88	0	ENST00000328916.3:c.200A>C	p.Tyr67Ser	p.Y67S	ENST00000328916	NM_201442.2	67	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS31735.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTATGACT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF24,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001155,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000385035	.	6/15	.	.	.	.	.	.	.	.	rs782615357	6/15	PASS	ENST00000406697	Transcript	.	.	ENSG00000182326	1247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	C1S_HUMAN	C1S	HGNC	F8WCZ6_HUMAN,F5H7T4_HUMAN,C9JY52_HUMAN,C9IZP8_HUMAN,B5MCV4_HUMAN	.	UPI0000126BF6	SNV	C1S,missense_variant,p.Tyr67Ser,ENST00000328916,;C1S,missense_variant,p.Tyr67Ser,ENST00000403949,;C1S,missense_variant,p.Tyr67Ser,ENST00000413211,;C1S,missense_variant,p.Tyr67Ser,ENST00000360817,;C1S,missense_variant,p.Tyr67Ser,ENST00000406697,;C1S,missense_variant,p.Tyr67Ser,ENST00000423384,;C1S,splice_region_variant,,ENST00000542978,;C1S,intron_variant,,ENST00000402681,;C1S,non_coding_transcript_exon_variant,,ENST00000543187,;C1S,intron_variant,,ENST00000541647,;C1S,upstream_gene_variant,,ENST00000495061,;C1S,missense_variant,p.Tyr92Ser,ENST00000443875,;C1S,non_coding_transcript_exon_variant,,ENST00000488701,;C1S,upstream_gene_variant,,ENST00000461983,;C1S,upstream_gene_variant,,ENST00000497061,;C1S,upstream_gene_variant,,ENST00000470326,;C1S,upstream_gene_variant,,ENST00000463798,;C1S,downstream_gene_variant,,ENST00000489541,;C1S,upstream_gene_variant,,ENST00000495053,;C1S,upstream_gene_variant,,ENST00000473545,;	828	88	94	SUCCESS
CD163L1	283316	.	GRCh37	12	7556293	7556293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151328196	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	7	147	0	ENST00000313599.3:c.1246G>A	p.Val416Ile	p.V416I	ENST00000313599		416	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS8577.1	1246	MUTECT|MUSE	.	AAAGACGCTGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	T:0.0002	ENSP00000315945	.	6/20	.	.	.	.	.	.	.	.	rs151328196,COSM1247647	6/20	PASS	ENST00000313599	Transcript	.	.	ENSG00000177675	30375	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.044)	.	tolerated(1)	0,1	C163B_HUMAN	CD163L1	HGNC	F5H7R7_HUMAN	.	UPI000013F5AD	SNV	CD163L1,missense_variant,p.Val62Ile,ENST00000545926,;CD163L1,missense_variant,p.Val426Ile,ENST00000416109,;CD163L1,missense_variant,p.Val416Ile,ENST00000313599,;CD163L1,missense_variant,p.Val416Ile,ENST00000396630,;	1304	147	117	SUCCESS
ZDHHC17	23390	.	GRCh37	12	77203532	77203532	+	synonymous_variant	Silent	SNP	T	T	C	rs376206630	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	69	0	ENST00000426126.2:c.438T>C	p.Tyr146=	p.Y146=	ENST00000426126	NM_015336.2	146	taT/taC	0	C:0	.	.	.	.	C	Y	protein_coding	YES	CCDS44946.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATGGTGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	C:0.0001	ENSP00000403397	.	5/17	.	.	.	.	.	.	.	.	rs376206630	5/17	PASS	ENST00000426126	Transcript	.	.	ENSG00000186908	18412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDH17_HUMAN	ZDHHC17	HGNC	A8KA01_HUMAN	.	UPI0000051F55	SNV	ZDHHC17,synonymous_variant,p.%3D,ENST00000426126,;ZDHHC17,synonymous_variant,p.%3D,ENST00000549682,;ZDHHC17,synonymous_variant,p.%3D,ENST00000334822,;ZDHHC17,synonymous_variant,p.%3D,ENST00000359019,;ZDHHC17,intron_variant,,ENST00000550876,;ZDHHC17,synonymous_variant,p.%3D,ENST00000549944,;ZDHHC17,synonymous_variant,p.%3D,ENST00000552453,;ZDHHC17,3_prime_UTR_variant,,ENST00000547620,;ZDHHC17,3_prime_UTR_variant,,ENST00000547604,;ZDHHC17,3_prime_UTR_variant,,ENST00000550163,;ZDHHC17,3_prime_UTR_variant,,ENST00000546778,;ZDHHC17,downstream_gene_variant,,ENST00000551407,;	1087	69	82	SUCCESS
DUSP6	1848	.	GRCh37	12	89743032	89743032	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	78	0	ENST00000279488.7:c.1145G>T	p.Ter382LeuextTer36	p.*382Lext*36	ENST00000279488	NM_001946.2	382	tGa/tTa	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS9033.1	1145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCACGTA	NONE	.	.	.	.	.	ENSP00000279488	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000279488	Transcript	.	.	ENSG00000139318	3072	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS6_HUMAN	DUSP6	HGNC	F8VZA4_HUMAN	.	UPI000013ED2F	SNV	DUSP6,stop_lost,p.Ter382LeuextTer36,ENST00000279488,;DUSP6,stop_lost,p.Ter257LeuextTer36,ENST00000547291,;DUSP6,stop_lost,p.Ter236LeuextTer36,ENST00000308385,;DUSP6,downstream_gene_variant,,ENST00000548755,;DUSP6,downstream_gene_variant,,ENST00000547140,;	2377	78	77	SUCCESS
REC8	9985	.	GRCh37	14	24646590	24646590	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	48	229	0	ENST00000311457.3:c.734+1G>T		p.X245_splice	ENST00000311457		245		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41932.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGTAAGG	NONE	.	.	.	.	.	ENSP00000308699	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311457	Transcript	.	.	ENSG00000100918	16879	.	.	HIGH	10/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REC8_HUMAN	REC8	HGNC	H0YMV7_HUMAN,H0YM87_HUMAN,H0YLK4_HUMAN	.	UPI000013C70B	SNV	REC8,splice_donor_variant,,ENST00000311457,;REC8,splice_donor_variant,,ENST00000559919,;REC8,downstream_gene_variant,,ENST00000557806,;IPO4,downstream_gene_variant,,ENST00000558233,;REC8,downstream_gene_variant,,ENST00000560501,;IPO4,downstream_gene_variant,,ENST00000354464,;IPO4,downstream_gene_variant,,ENST00000561462,;REC8,upstream_gene_variant,,ENST00000559939,;REC8,splice_donor_variant,,ENST00000557979,;REC8,non_coding_transcript_exon_variant,,ENST00000558782,;REC8,non_coding_transcript_exon_variant,,ENST00000558697,;IPO4,downstream_gene_variant,,ENST00000560798,;REC8,upstream_gene_variant,,ENST00000559797,;REC8,downstream_gene_variant,,ENST00000560032,;IPO4,downstream_gene_variant,,ENST00000561090,;IPO4,downstream_gene_variant,,ENST00000561199,;RP11-468E2.2,downstream_gene_variant,,ENST00000561419,;IPO4,downstream_gene_variant,,ENST00000560155,;REC8,upstream_gene_variant,,ENST00000558191,;IPO4,downstream_gene_variant,,ENST00000559588,;IPO4,downstream_gene_variant,,ENST00000558046,;REC8,upstream_gene_variant,,ENST00000560823,;IPO4,downstream_gene_variant,,ENST00000558780,;REC8,upstream_gene_variant,,ENST00000558381,;	.	229	206	SUCCESS
NFATC4	4776	.	GRCh37	14	24845640	24845640	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755075807	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	139	0	ENST00000250373.4:c.2197G>A	p.Glu733Lys	p.E733K	ENST00000250373	NM_004554.4	733	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45089.1	2386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGAAACT	NONE	byFrequency	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9	.	.	ENSP00000388910	.	10/10	.	.	.	.	.	.	.	.	rs755075807	10/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated_low_confidence(0.31)	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,missense_variant,p.Glu733Lys,ENST00000554050,;NFATC4,missense_variant,p.Glu721Lys,ENST00000422617,;NFATC4,missense_variant,p.Glu733Lys,ENST00000250373,;NFATC4,missense_variant,p.Glu268Lys,ENST00000554473,;NFATC4,missense_variant,p.Glu746Lys,ENST00000555590,;NFATC4,missense_variant,p.Glu721Lys,ENST00000556169,;NFATC4,missense_variant,p.Glu765Lys,ENST00000553469,;NFATC4,missense_variant,p.Glu765Lys,ENST00000539237,;NFATC4,missense_variant,p.Glu663Lys,ENST00000554661,;NFATC4,missense_variant,p.Glu268Lys,ENST00000555167,;NFATC4,missense_variant,p.Glu721Lys,ENST00000555453,;NFATC4,missense_variant,p.Glu733Lys,ENST00000553708,;NFATC4,missense_variant,p.Glu663Lys,ENST00000557451,;NFATC4,missense_variant,p.Glu796Lys,ENST00000413692,;NFATC4,missense_variant,p.Glu765Lys,ENST00000556279,;NFATC4,missense_variant,p.Glu663Lys,ENST00000553879,;NFATC4,missense_variant,p.Glu21Lys,ENST00000557767,;NFATC4,missense_variant,p.Glu746Lys,ENST00000424781,;NFATC4,missense_variant,p.Glu796Lys,ENST00000554591,;NFATC4,missense_variant,p.Glu268Lys,ENST00000556759,;NFATC4,missense_variant,p.Glu21Lys,ENST00000555802,;NFATC4,missense_variant,p.Glu21Lys,ENST00000555393,;NFATC4,missense_variant,p.Glu746Lys,ENST00000554966,;NFATC4,missense_variant,p.Glu663Lys,ENST00000554344,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,intron_variant,,ENST00000555821,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,downstream_gene_variant,,ENST00000557028,;NFATC4,downstream_gene_variant,,ENST00000556957,;NFATC4,downstream_gene_variant,,ENST00000556302,;	2530	139	101	SUCCESS
DLGAP5	9787	.	GRCh37	14	55618447	55618447	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	48	202	0	ENST00000247191.2:c.2334C>A	p.Ile778=	p.I778=	ENST00000247191	NM_014750.4	778	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9723.1	2334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAAGATGCT	NONE	.	.	.	.	.	ENSP00000247191	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000247191	Transcript	.	.	ENSG00000126787	16864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLGP5_HUMAN	DLGAP5	HGNC	G3V543_HUMAN,G3V4E5_HUMAN	.	UPI000013CC13	SNV	DLGAP5,synonymous_variant,p.%3D,ENST00000247191,;DLGAP5,synonymous_variant,p.%3D,ENST00000395425,;DLGAP5,non_coding_transcript_exon_variant,,ENST00000554007,;	2551	202	150	SUCCESS
C14orf39	317761	.	GRCh37	14	60945061	60945061	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	58	287	0	ENST00000321731.3:c.280C>G	p.Gln94Glu	p.Q94E	ENST00000321731	NM_174978.2	94	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS9746.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGCATAT	NONE	.	.	.	.	.	ENSP00000324920	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	tolerated(0.09)	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,missense_variant,p.Gln65Glu,ENST00000555476,;C14orf39,missense_variant,p.Gln94Glu,ENST00000321731,;C14orf39,downstream_gene_variant,,ENST00000556799,;C14orf39,intron_variant,,ENST00000557138,;	440	287	233	SUCCESS
BNIP2	663	.	GRCh37	15	59972472	59972472	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762238174	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	52	0	ENST00000607373.1:c.86T>C	p.Ile29Thr	p.I29T	ENST00000607373	NM_004330.2	29	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS10174.2	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGTATATCT	NONE	.	.	hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF12	.	.	ENSP00000267859	.	3/10	.	.	.	.	.	.	.	.	rs762238174,COSM1373836	3/10	PASS	ENST00000267859	Transcript	.	.	ENSG00000140299	1083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.013)	.	tolerated(0.46)	0,1	.	BNIP2	HGNC	J3KN59_HUMAN	.	UPI0000E59C57	SNV	BNIP2,missense_variant,p.Ile29Thr,ENST00000607373,;BNIP2,missense_variant,p.Ile150Thr,ENST00000267859,;BNIP2,missense_variant,p.Ile91Thr,ENST00000415213,;BNIP2,upstream_gene_variant,,ENST00000439052,;BNIP2,non_coding_transcript_exon_variant,,ENST00000417312,;BNIP2,missense_variant,p.Ile9Thr,ENST00000448414,;BNIP2,non_coding_transcript_exon_variant,,ENST00000477543,;BNIP2,non_coding_transcript_exon_variant,,ENST00000557987,;BNIP2,non_coding_transcript_exon_variant,,ENST00000560458,;BNIP2,upstream_gene_variant,,ENST00000464390,;PIGHP1,downstream_gene_variant,,ENST00000558833,;	543	52	46	SUCCESS
PEAK1	79834	.	GRCh37	15	77407621	77407621	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	70	0	ENST00000312493.4:c.4118A>G	p.His1373Arg	p.H1373R	ENST00000312493	NM_024776.3	1373	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS42062.1	4118	RADIA|MUTECT|VARSCANS	.	AGCTGTGATAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000452796	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,missense_variant,p.His1373Arg,ENST00000560626,;PEAK1,missense_variant,p.His1373Arg,ENST00000312493,;	4594	70	55	SUCCESS
PDE8A	5151	.	GRCh37	15	85660890	85660890	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	282	84	312	0	ENST00000310298.4:c.1554T>A	p.Gly518=	p.G518=	ENST00000310298		518	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10336.1	1554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTCTCAA	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000311453	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,synonymous_variant,p.%3D,ENST00000394553,;PDE8A,synonymous_variant,p.%3D,ENST00000339708,;PDE8A,synonymous_variant,p.%3D,ENST00000310298,;PDE8A,synonymous_variant,p.%3D,ENST00000557957,;PDE8A,downstream_gene_variant,,ENST00000557819,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560333,;PDE8A,downstream_gene_variant,,ENST00000557954,;PDE8A,downstream_gene_variant,,ENST00000561374,;PDE8A,upstream_gene_variant,,ENST00000561024,;PDE8A,downstream_gene_variant,,ENST00000558543,;	1806	312	366	SUCCESS
MYH11	4629	.	GRCh37	16	15814851	15814851	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	21	128	0	ENST00000300036.5:c.4636A>G	p.Thr1546Ala	p.T1546A	ENST00000300036	NM_002474.2	1546	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS45423.1	4657	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGTCTTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140	.	.	ENSP00000379616	.	34/42	.	.	.	.	.	.	.	.	.	34/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.822)	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,missense_variant,p.Thr1546Ala,ENST00000576790,;MYH11,missense_variant,p.Thr1546Ala,ENST00000300036,;MYH11,missense_variant,p.Thr1553Ala,ENST00000396324,;MYH11,missense_variant,p.Thr1553Ala,ENST00000452625,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,intron_variant,,ENST00000396355,;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000396354,;NDE1,upstream_gene_variant,,ENST00000571896,;NDE1,upstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000576164,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;	4745	128	128	SUCCESS
RP11-812E19.9	0	.	GRCh37	16	33647307	33647307	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748386194	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	65	331	0	ENST00000558425.1:c.293C>A	p.Pro98Gln	p.P98Q	ENST00000558425		98	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	.	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACGGTGAG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF80,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000475107	.	2/3	.	.	.	.	.	.	.	.	rs748386194	2/3	PASS	ENST00000558425	Transcript	.	.	ENSG00000259680	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious_low_confidence(0)	.	.	RP11-812E19.9	Clone_based_vega_gene	S4R460_HUMAN,S4R3C0_HUMAN	.	UPI000215111F	SNV	RP11-812E19.9,missense_variant,p.Pro98Gln,ENST00000569103,;RP11-812E19.9,missense_variant,p.Pro98Gln,ENST00000558425,;RP11-812E19.13,downstream_gene_variant,,ENST00000438532,;	293	332	280	SUCCESS
CCDC135	0	.	GRCh37	16	57734093	57734093	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376601948	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	106	0	ENST00000360716.3:c.415C>A	p.Pro139Thr	p.P139T	ENST00000360716		139	Ccc/Acc	0	T:0.0002	.	.	.	.	A	P/T	protein_coding	YES	CCDS10787.1	415	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCCCTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23155,Superfamily_domains:SSF54001	.	T:0	ENSP00000353942	.	5/19	.	.	.	.	.	.	.	.	rs376601948	5/19	PASS	ENST00000360716	Transcript	.	.	ENSG00000159625	25289	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.89)	.	deleterious(0.05)	.	CC135_HUMAN	CCDC135	HGNC	H3BRX1_HUMAN,H3BQY5_HUMAN	.	UPI00001AEB68	SNV	CCDC135,missense_variant,p.Pro139Thr,ENST00000336825,;CCDC135,missense_variant,p.Pro139Thr,ENST00000394337,;CCDC135,missense_variant,p.Pro139Thr,ENST00000360716,;CCDC135,missense_variant,p.Pro2Thr,ENST00000569167,;CCDC135,missense_variant,p.Pro142Thr,ENST00000563126,;CCDC135,upstream_gene_variant,,ENST00000564132,;CCDC135,downstream_gene_variant,,ENST00000569375,;RP11-405F3.4,intron_variant,,ENST00000563062,;CCDC135,3_prime_UTR_variant,,ENST00000564297,;	636	106	92	SUCCESS
MMP15	4324	.	GRCh37	16	58079051	58079051	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372389085	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	24	0	ENST00000219271.3:c.1711G>A	p.Asp571Asn	p.D571N	ENST00000219271	NM_002428.2	571	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10792.1	1711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGACGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10201:SF25,hmmpanther:PTHR10201	.	.	ENSP00000219271	.	10/10	.	.	.	.	.	.	.	.	rs372389085	10/10	PASS	ENST00000219271	Transcript	.	.	ENSG00000102996	7161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.03)	.	MMP15_HUMAN	MMP15	HGNC	.	.	UPI000003DC75	SNV	MMP15,missense_variant,p.Asp571Asn,ENST00000219271,;MMP15,downstream_gene_variant,,ENST00000570065,;	2496	24	61	SUCCESS
VAT1L	57687	.	GRCh37	16	77896666	77896666	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	34	113	0	ENST00000302536.2:c.601T>A	p.Cys201Ser	p.C201S	ENST00000302536	NM_020927.1	201	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS32492.1	601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGTGTTCC	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF442,PROSITE_patterns:PS01162,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000303129	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000302536	Transcript	.	.	ENSG00000171724	29315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.03)	.	VAT1L_HUMAN	VAT1L	HGNC	Q8NDE0_HUMAN	.	UPI00000741CE	SNV	VAT1L,missense_variant,p.Cys201Ser,ENST00000302536,;VAT1L,non_coding_transcript_exon_variant,,ENST00000563850,;	754	113	120	SUCCESS
ADAD2	161931	.	GRCh37	16	84228671	84228671	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	rs771192815	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	67	1	ENST00000315906.5:c.608-4G>T		p.X203_splice	ENST00000315906	NM_001145400.1	203		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10944.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCAGAG	NONE	byFrequency	.	.	.	.	ENSP00000268624	.	.	.	.	.	.	.	.	.	.	rs771192815,COSM3387637	.	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	LOW	4/10	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,splice_region_variant,,ENST00000315906,;ADAD2,splice_region_variant,,ENST00000567685,;ADAD2,splice_region_variant,,ENST00000268624,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000569834,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,splice_region_variant,,ENST00000566526,;ADAD2,splice_region_variant,,ENST00000564169,;ADAD2,splice_region_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;	.	69	73	SUCCESS
MYOCD	93649	.	GRCh37	17	12626295	12626295	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759124129	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	129	0	ENST00000343344.4:c.385G>T	p.Val129Leu	p.V129L	ENST00000343344		129	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS54091.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGTGGAT	NONE	.	.	SMART_domains:SM00707,Pfam_domain:PF02755,hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11,PROSITE_profiles:PS51073	.	.	ENSP00000401678	.	5/14	.	.	.	.	.	.	.	.	rs759124129	5/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.17)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Val129Leu,ENST00000343344,;MYOCD,missense_variant,p.Val129Leu,ENST00000425538,;AC005358.1,missense_variant,p.Val33Leu,ENST00000609971,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	585	129	97	SUCCESS
B9D1	27077	.	GRCh37	17	19261177	19261177	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	78	0	ENST00000261499.4:c.220T>A	p.Phe74Ile	p.F74I	ENST00000261499	NM_015681.3	74	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11205.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAAGGTGA	NONE	.	.	PROSITE_profiles:PS51381,hmmpanther:PTHR12968,Pfam_domain:PF07162	.	.	ENSP00000261499	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000261499	Transcript	.	.	ENSG00000108641	24123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	B9D1_HUMAN	B9D1	HGNC	.	.	UPI0000072F33	SNV	B9D1,missense_variant,p.Phe74Ile,ENST00000261499,;B9D1,missense_variant,p.Phe74Ile,ENST00000461069,;B9D1,missense_variant,p.Phe65Ile,ENST00000440841,;B9D1,missense_variant,p.Phe74Ile,ENST00000395615,;B9D1,missense_variant,p.Phe74Ile,ENST00000268841,;B9D1,missense_variant,p.Phe74Ile,ENST00000395616,;B9D1,synonymous_variant,p.%3D,ENST00000574508,;B9D1,synonymous_variant,p.%3D,ENST00000575403,;B9D1,synonymous_variant,p.%3D,ENST00000477478,;B9D1,synonymous_variant,p.%3D,ENST00000575478,;B9D1,downstream_gene_variant,,ENST00000487415,;B9D1,synonymous_variant,p.%3D,ENST00000582857,;B9D1,non_coding_transcript_exon_variant,,ENST00000477683,;	364	78	55	SUCCESS
NOS2	4843	.	GRCh37	17	26088234	26088234	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	159	0	ENST00000313735.6:c.2824G>A	p.Gly942Ser	p.G942S	ENST00000313735	NM_000625.4	942	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS11223.1	2824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCGTGGT	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Pfam_domain:PF00667,Gene3D:2.40.30.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380,Prints_domain:PR00371	.	.	ENSP00000327251	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,missense_variant,p.Gly942Ser,ENST00000313735,;	3058	159	106	SUCCESS
CPD	1362	.	GRCh37	17	28772898	28772898	+	synonymous_variant	Silent	SNP	G	G	T	rs187666987	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	50	228	1	ENST00000225719.4:c.2733G>T	p.Ala911=	p.A911=	ENST00000225719	NM_001304.4	911	gcG/gcT	0	.	A:0.0008	.	A:0	.	T	A	protein_coding	YES	CCDS11257.1	2733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGGAGAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11532:SF40,hmmpanther:PTHR11532	A:0	.	ENSP00000225719	A:0.001	12/21	.	.	.	.	.	.	.	.	rs187666987	12/21	PASS	ENST00000225719	Transcript	.	A:0.0004	ENSG00000108582	2301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CBPD_HUMAN	CPD	HGNC	.	.	UPI000000DAF7	SNV	CPD,synonymous_variant,p.%3D,ENST00000584221,;CPD,synonymous_variant,p.%3D,ENST00000543464,;CPD,synonymous_variant,p.%3D,ENST00000225719,;CPD,non_coding_transcript_exon_variant,,ENST00000588977,;CPD,upstream_gene_variant,,ENST00000584051,;CPD,downstream_gene_variant,,ENST00000581826,;CPD,upstream_gene_variant,,ENST00000584050,;	2809	229	155	SUCCESS
MAP3K14	9020	.	GRCh37	17	43367973	43367973	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	47	291	0	ENST00000344686.2:n.248A>G		p.*83*	ENST00000344686				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCTCCA	NONE	.	.	.	.	.	.	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000344686	Transcript	.	.	ENSG00000006062	6853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MAP3K14	HGNC	.	.	.	SNV	MAP3K14,non_coding_transcript_exon_variant,,ENST00000344686,;MAP3K14,non_coding_transcript_exon_variant,,ENST00000587332,;MAP3K14,upstream_gene_variant,,ENST00000376926,;	248	291	243	SUCCESS
NFE2L1	4779	.	GRCh37	17	46128958	46128959	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs773403681	.	TCGA-DD-A118-01	TCGA-DD-A118-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	54	0	ENST00000362042.3:c.485dup	p.Val163SerfsTer14	p.V163Sfs*14	ENST00000362042	NM_003204.2	160	gcc/gCcc	0	.	.	.	.	.	C	A/AX	protein_coding	YES	CCDS11524.1	478-479	INDELOCATOR|VARSCANI	.	CTGTAGCCCCC	NONE	byFrequency	.	hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411	.	.	ENSP00000354855	.	2/6	.	.	.	.	.	.	.	.	rs773403681,COSM307741	2/6	PASS	ENST00000362042	Transcript	.	.	ENSG00000082641	7781	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	NF2L1_HUMAN	NFE2L1	HGNC	Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN	.	UPI000012FFCF	insertion	NFE2L1,frameshift_variant,p.Val163SerfsTer14,ENST00000362042,;NFE2L1,frameshift_variant,p.Val163SerfsTer14,ENST00000357480,;NFE2L1,frameshift_variant,p.Val163SerfsTer14,ENST00000585291,;NFE2L1,frameshift_variant,p.Val163SerfsTer11,ENST00000361665,;NFE2L1,upstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000579889,;NFE2L1,upstream_gene_variant,,ENST00000584634,;NFE2L1,downstream_gene_variant,,ENST00000585062,;NFE2L1,upstream_gene_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000536222,;NFE2L1,downstream_gene_variant,,ENST00000581441,;NFE2L1,downstream_gene_variant,,ENST00000584137,;NFE2L1,upstream_gene_variant,,ENST00000583378,;NFE2L1,upstream_gene_variant,,ENST00000582155,;NFE2L1,upstream_gene_variant,,ENST00000580037,;NFE2L1,upstream_gene_variant,,ENST00000577431,;NFE2L1,upstream_gene_variant,,ENST00000580050,;NFE2L1,upstream_gene_variant,,ENST00000579537,;RP5-890E16.2,upstream_gene_variant,,ENST00000584428,;NFE2L1,downstream_gene_variant,,ENST00000583060,;NFE2L1,downstream_gene_variant,,ENST00000579481,;NFE2L1,downstream_gene_variant,,ENST00000585299,;NFE2L1,downstream_gene_variant,,ENST00000582574,;RP5-890E16.2,upstream_gene_variant,,ENST00000578660,;	1094-1095	54	53	SUCCESS
KAT7	11143	.	GRCh37	17	47866083	47866083	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	9	0	ENST00000259021.4:c.-114A>G		p.*38*	ENST00000259021	NM_007067.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11554.1	.	MUTECT|MUSE	.	TAGGGATCGTC	NONE	.	.	.	.	.	ENSP00000259021	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000259021	Transcript	.	.	ENSG00000136504	17016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAT7_HUMAN	KAT7	HGNC	G3V125_HUMAN,B4DJ40_HUMAN,B4DGH8_HUMAN	.	UPI000006D3D5	SNV	KAT7,5_prime_UTR_variant,,ENST00000510819,;KAT7,5_prime_UTR_variant,,ENST00000259021,;KAT7,5_prime_UTR_variant,,ENST00000454930,;KAT7,5_prime_UTR_variant,,ENST00000424009,;KAT7,5_prime_UTR_variant,,ENST00000509773,;KAT7,upstream_gene_variant,,ENST00000506533,;KAT7,upstream_gene_variant,,ENST00000435742,;KAT7,upstream_gene_variant,,ENST00000503935,;FAM117A,upstream_gene_variant,,ENST00000513602,;KAT7,non_coding_transcript_exon_variant,,ENST00000509124,;FAM117A,non_coding_transcript_exon_variant,,ENST00000514018,;FAM117A,intron_variant,,ENST00000509347,;FAM117A,intron_variant,,ENST00000505159,;FAM117A,upstream_gene_variant,,ENST00000503855,;FAM117A,upstream_gene_variant,,ENST00000503720,;	167	9	14	SUCCESS
GH1	2688	.	GRCh37	17	61995228	61995228	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	77	0	ENST00000323322.5:c.348G>A	p.Val116=	p.V116=	ENST00000323322	NM_000515.3	116	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11653.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGCACGGG	NONE	.	.	hmmpanther:PTHR11417:SF38,hmmpanther:PTHR11417,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266,Prints_domain:PR00836	.	.	ENSP00000312673	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000323322	Transcript	.	.	ENSG00000259384	4261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOMA_HUMAN	GH1	HGNC	B1A4G6_HUMAN	.	UPI000002B7EE	SNV	GH1,synonymous_variant,p.%3D,ENST00000323322,;GH1,synonymous_variant,p.%3D,ENST00000458650,;GH1,synonymous_variant,p.%3D,ENST00000351388,;GH1,intron_variant,,ENST00000342364,;CSHL1,intron_variant,,ENST00000392824,;GH1,non_coding_transcript_exon_variant,,ENST00000579711,;	391	77	68	SUCCESS
GPR142	350383	.	GRCh37	17	72368126	72368126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	66	0	ENST00000335666.4:c.776C>T	p.Ala259Val	p.A259V	ENST00000335666	NM_181790.1	259	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11698.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCCCTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF48,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335158	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335666	Transcript	.	.	ENSG00000257008	20088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.05)	.	GP142_HUMAN	GPR142	HGNC	.	.	UPI00001AA7F1	SNV	GPR142,missense_variant,p.Ala259Val,ENST00000335666,;GPR142,3_prime_UTR_variant,,ENST00000582579,;GPR142,downstream_gene_variant,,ENST00000585308,;	824	66	51	SUCCESS
FHOD3	80206	.	GRCh37	18	34261446	34261446	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs201006691	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	100	215	0	ENST00000359247.4:c.1358del	p.Glu453GlyfsTer21	p.E453Gfs*21	ENST00000359247	NM_001281739.1	453	gAg/gg	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS32816.1	1358	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCAAGAGTCAC	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213	.	.	ENSP00000257209	.	12/25	.	.	.	.	.	.	.	.	rs201006691	12/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	deletion	FHOD3,frameshift_variant,p.Glu628GlyfsTer21,ENST00000590592,;FHOD3,frameshift_variant,p.Glu415GlyfsTer21,ENST00000445677,;FHOD3,frameshift_variant,p.Glu453GlyfsTer21,ENST00000257209,;FHOD3,frameshift_variant,p.Glu214GlyfsTer21,ENST00000592930,;FHOD3,frameshift_variant,p.Glu453GlyfsTer21,ENST00000359247,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	1480	215	241	SUCCESS
SBNO2	22904	.	GRCh37	19	1109390	1109390	+	synonymous_variant	Silent	SNP	C	C	T	rs781001227	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	10	0	ENST00000361757.3:c.3249G>A	p.Ala1083=	p.A1083=	ENST00000361757	NM_014963.2	1083	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45894.1	3249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGCCAG	NONE	.	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706	.	.	ENSP00000354733	.	29/32	.	.	.	.	.	.	.	.	rs781001227	29/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,synonymous_variant,p.%3D,ENST00000438103,;SBNO2,synonymous_variant,p.%3D,ENST00000587024,;SBNO2,synonymous_variant,p.%3D,ENST00000361757,;GPX4,downstream_gene_variant,,ENST00000585362,;GPX4,downstream_gene_variant,,ENST00000587648,;GPX4,downstream_gene_variant,,ENST00000354171,;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000593032,;SBNO2,non_coding_transcript_exon_variant,,ENST00000587673,;GPX4,downstream_gene_variant,,ENST00000587932,;SBNO2,downstream_gene_variant,,ENST00000586109,;GPX4,downstream_gene_variant,,ENST00000585480,;GPX4,downstream_gene_variant,,ENST00000592940,;	3487	10	21	SUCCESS
DNASE2	1777	.	GRCh37	19	12987092	12987092	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	18	111	0	ENST00000222219.3:c.795T>G	p.Ser265=	p.S265=	ENST00000222219	NM_001375.2	265	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS12284.1	795	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTAGAGGG	NONE	.	.	hmmpanther:PTHR10858:SF9,hmmpanther:PTHR10858,Pfam_domain:PF03265	.	.	ENSP00000222219	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000222219	Transcript	.	.	ENSG00000105612	2960	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DNS2A_HUMAN	DNASE2	HGNC	.	.	UPI000012988A	SNV	DNASE2,synonymous_variant,p.%3D,ENST00000592506,;DNASE2,synonymous_variant,p.%3D,ENST00000222219,;DNASE2,synonymous_variant,p.%3D,ENST00000538460,;MAST1,downstream_gene_variant,,ENST00000251472,;AC020934.1,upstream_gene_variant,,ENST00000578125,;CTD-2265O21.7,upstream_gene_variant,,ENST00000592400,;HOOK2,upstream_gene_variant,,ENST00000589765,;DNASE2,non_coding_transcript_exon_variant,,ENST00000588777,;DNASE2,downstream_gene_variant,,ENST00000586547,;MAST1,downstream_gene_variant,,ENST00000590553,;MAST1,downstream_gene_variant,,ENST00000585791,;	888	111	120	SUCCESS
DNASE2	1777	.	GRCh37	19	12991796	12991796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	86	0	ENST00000222219.3:c.257A>G	p.Asn86Ser	p.N86S	ENST00000222219	NM_001375.2	86	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS12284.1	257	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTTGCTC	NONE	.	.	hmmpanther:PTHR10858:SF9,hmmpanther:PTHR10858,Pfam_domain:PF03265	.	.	ENSP00000222219	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000222219	Transcript	.	.	ENSG00000105612	2960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.513)	.	deleterious(0.03)	.	DNS2A_HUMAN	DNASE2	HGNC	.	.	UPI000012988A	SNV	DNASE2,missense_variant,p.Asn86Ser,ENST00000538460,;DNASE2,missense_variant,p.Asn86Ser,ENST00000592506,;DNASE2,missense_variant,p.Asn86Ser,ENST00000222219,;KLF1,downstream_gene_variant,,ENST00000264834,;CTD-2265O21.7,non_coding_transcript_exon_variant,,ENST00000592400,;DNASE2,upstream_gene_variant,,ENST00000588777,;DNASE2,upstream_gene_variant,,ENST00000586547,;	350	86	72	SUCCESS
ZNF208	7757	.	GRCh37	19	22155549	22155549	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	43	0	ENST00000397126.4:c.2287A>G	p.Thr763Ala	p.T763A	ENST00000397126	NM_007153.3	763	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS54240.1	2287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGTTGAGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.86)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Thr763Ala,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	2436	43	32	SUCCESS
ZNF208	7757	.	GRCh37	19	22156821	22156821	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	88	0	ENST00000397126.4:c.1015A>G	p.Lys339Glu	p.K339E	ENST00000397126	NM_007153.3	339	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS54240.1	1015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTTCTCTC	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Lys339Glu,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	1164	88	117	SUCCESS
GNA15	2769	.	GRCh37	19	3162793	3162793	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	44	0	ENST00000262958.3:c.901C>T	p.Pro301Ser	p.P301S	ENST00000262958	NM_002068.2	301	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12104.1	901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCCTAAG	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF50,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00442	.	.	ENSP00000262958	.	7/7	.	.	.	.	.	.	.	.	COSM142295	7/7	PASS	ENST00000262958	Transcript	.	.	ENSG00000060558	4383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.651)	.	tolerated(0.09)	1	GNA15_HUMAN	GNA15	HGNC	.	.	UPI000013D36D	SNV	GNA15,missense_variant,p.Pro301Ser,ENST00000262958,;	1159	44	33	SUCCESS
ZNF540	163255	.	GRCh37	19	38102620	38102620	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	68	161	0	ENST00000316433.4:c.439A>G	p.Lys147Glu	p.K147E	ENST00000316433	NM_001172225.2	147	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12506.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTAAAAAA	CODON|p.M149fs*12|c.439delA|3	.	.	hmmpanther:PTHR24377:SF138,hmmpanther:PTHR24377	.	.	ENSP00000466274	.	5/5	.	.	.	.	.	.	.	.	COSM1393240	5/5	PASS	ENST00000592533	Transcript	.	.	ENSG00000171817	25331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated(1)	1	ZN540_HUMAN	ZNF540	HGNC	K7EK80_HUMAN	.	UPI00000732BB	SNV	ZNF540,missense_variant,p.Lys147Glu,ENST00000316433,;ZNF540,missense_variant,p.Lys147Glu,ENST00000343599,;ZNF540,missense_variant,p.Lys115Glu,ENST00000589117,;ZNF540,missense_variant,p.Lys147Glu,ENST00000586134,;ZNF540,missense_variant,p.Lys147Glu,ENST00000592533,;ZNF540,3_prime_UTR_variant,,ENST00000586792,;ZNF540,downstream_gene_variant,,ENST00000590588,;ZFP30,downstream_gene_variant,,ENST00000589018,;ZNF540,downstream_gene_variant,,ENST00000589857,;ZNF540,non_coding_transcript_exon_variant,,ENST00000589285,;	771	161	172	SUCCESS
CEACAM16	388551	.	GRCh37	19	45206800	45206800	+	synonymous_variant	Silent	SNP	C	C	A	rs534225927	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	18	87	0	ENST00000405314.2:c.219C>A	p.Gly73=	p.G73=	ENST00000405314		73	ggC/ggA	0	.	T:0.0015	.	T:0	.	A	G	protein_coding	YES	CCDS54278.1	219	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCGATGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR19955:SF127,hmmpanther:PTHR19955,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	.	ENSP00000466561	T:0	3/7	.	.	.	.	.	.	.	.	rs534225927	3/7	PASS	ENST00000587331	Transcript	1	T:0.0004	ENSG00000213892	31948	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	CEA16_HUMAN	CEACAM16	HGNC	.	.	UPI00001D8176	SNV	CEACAM16,synonymous_variant,p.%3D,ENST00000587331,;CEACAM16,synonymous_variant,p.%3D,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	434	87	123	SUCCESS
SYMPK	8189	.	GRCh37	19	46319169	46319169	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	85	0	ENST00000245934.7:c.3627C>T	p.Asp1209=	p.D1209=	ENST00000245934	NM_004819.2	1209	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS12676.2	3627	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGTCATC	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	.	.	ENSP00000245934	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,synonymous_variant,p.%3D,ENST00000245934,;RSPH6A,upstream_gene_variant,,ENST00000600188,;RSPH6A,upstream_gene_variant,,ENST00000221538,;RSPH6A,upstream_gene_variant,,ENST00000597055,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,3_prime_UTR_variant,,ENST00000596824,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000598329,;	3872	85	95	SUCCESS
SPACA6P-AS	102238594	.	GRCh37	19	52196399	52196399	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	23	0	ENST00000602324.1:n.311A>G		p.*104*	ENST00000602324				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTATTTC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000602324	Transcript	.	.	ENSG00000269959	49383	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SPACA6P-AS	HGNC	.	.	.	SNV	SPACA6P-AS,non_coding_transcript_exon_variant,,ENST00000602324,;MIRLET7E,downstream_gene_variant,,ENST00000362102,;SPACA6P,upstream_gene_variant,,ENST00000576093,;SPACA6P,upstream_gene_variant,,ENST00000573266,;MIR99B,downstream_gene_variant,,ENST00000384819,;MIR125A,upstream_gene_variant,,ENST00000385273,;SPACA6P,upstream_gene_variant,,ENST00000574072,;SPACA6P,upstream_gene_variant,,ENST00000576494,;SPACA6P,upstream_gene_variant,,ENST00000571328,;AC018755.2,upstream_gene_variant,,ENST00000331594,;	311	23	30	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7516109	7516109	+	synonymous_variant	Silent	SNP	C	C	T	rs1302340069	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	22	92	0	ENST00000359920.6:c.1248C>T	p.Thr416=	p.T416=	ENST00000359920	NM_001130955.1	416	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45946.1	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACCAAATA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF9,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000352995	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,synonymous_variant,p.%3D,ENST00000359920,;ARHGEF18,synonymous_variant,p.%3D,ENST00000594665,;ARHGEF18,synonymous_variant,p.%3D,ENST00000319670,;CTD-2207O23.3,synonymous_variant,p.%3D,ENST00000593531,;	1501	92	116	SUCCESS
MUC16	94025	.	GRCh37	19	9087246	9087246	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	229	51	199	0	ENST00000397910.4:c.4569C>A	p.Ile1523=	p.I1523=	ENST00000397910	NM_024690.2	1523	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS54212.1	4569	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGATTCC	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	4773	199	281	SUCCESS
SV2A	9900	.	GRCh37	1	149881036	149881036	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200303127	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	32	159	0	ENST00000369146.3:c.1267C>T	p.Arg423Trp	p.R423W	ENST00000369146	NM_014849.4	423	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS940.1	1267	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGGACCC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24065:SF4,hmmpanther:PTHR24065,TIGRFAM_domain:TIGR01299,Pfam_domain:PF00083	A:0.001	.	ENSP00000358142	A:0.001	7/13	.	.	.	.	.	.	.	.	rs200303127	7/13	PASS	ENST00000369146	Transcript	.	A:0.0004	ENSG00000159164	20566	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	A:0	deleterious(0)	.	SV2A_HUMAN	SV2A	HGNC	.	.	UPI000000DAD2	SNV	SV2A,missense_variant,p.Arg423Trp,ENST00000369145,;SV2A,missense_variant,p.Arg423Trp,ENST00000369146,;	1758	159	242	SUCCESS
FLG	2312	.	GRCh37	1	152281525	152281525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774117765	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	539	139	632	0	ENST00000368799.1:c.5837C>T	p.Ala1946Val	p.A1946V	ENST00000368799	NM_002016.1	1946	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS30860.1	5837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAGCAGAT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs774117765,COSM281182	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.483)	.	.	0,1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ala1946Val,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5873	632	679	SUCCESS
CD1D	912	.	GRCh37	1	158151319	158151319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	59	0	ENST00000368171.3:c.136G>A	p.Gly46Ser	p.G46S	ENST00000368171	NM_001766.3	46	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS1173.1	136	RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGGCTTG	NONE	.	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000357153	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000368171	Transcript	.	.	ENSG00000158473	1637	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.471)	.	tolerated(0.13)	.	CD1D_HUMAN	CD1D	HGNC	.	.	UPI00000012B1	SNV	CD1D,missense_variant,p.Gly46Ser,ENST00000368171,;ELL2P1,upstream_gene_variant,,ENST00000413990,;	635	59	95	SUCCESS
OR10X1	128367	.	GRCh37	1	158549059	158549059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	34	146	0	ENST00000368150.1:c.631A>G	p.Thr211Ala	p.T211A	ENST00000368150	NM_001004477.1	211	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS30900.1	631	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTGTGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF195,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000357132	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368150	Transcript	.	.	ENSG00000186400	14995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.641)	.	tolerated(0.34)	.	O10X1_HUMAN	OR10X1	HGNC	.	.	UPI000004CA20	SNV	OR10X1,missense_variant,p.Thr211Ala,ENST00000368150,;	631	146	207	SUCCESS
IGSF9	57549	.	GRCh37	1	159912756	159912756	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs113355407	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	82	0	ENST00000368094.1:c.244G>T	p.Val82Leu	p.V82L	ENST00000368094	NM_001135050.1	82	Gtg/Ttg	0	T:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS44254.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCACGTAAT	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF534,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000357073	.	3/21	.	.	.	.	.	.	.	.	rs113355407,COSM74991	3/21	PASS	ENST00000368094	Transcript	.	.	ENSG00000085552	18132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.27)	0,1	TUTLA_HUMAN	IGSF9	HGNC	Q6XYD8_HUMAN	.	UPI000004A10B	SNV	IGSF9,missense_variant,p.Val82Leu,ENST00000368094,;IGSF9,missense_variant,p.Val82Leu,ENST00000361509,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;	442	82	79	SUCCESS
SRGAP2	23380	.	GRCh37	1	206566223	206566223	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1244	39	1131	0	ENST00000295713.5:c.406A>C	p.Arg136=	p.R136=	ENST00000295713		136	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	.	406	MUTECT|MUSE	.	TCCGGAGGAGC	NONE	.	.	hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166	.	.	ENSP00000295713	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000295713	Transcript	.	.	ENSG00000163486	19751	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SRGAP2	HGNC	Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN	.	UPI000059D0A5	SNV	SRGAP2,synonymous_variant,p.%3D,ENST00000414007,;SRGAP2,synonymous_variant,p.%3D,ENST00000295713,;SRGAP2,5_prime_UTR_variant,,ENST00000419187,;SRGAP2,non_coding_transcript_exon_variant,,ENST00000483628,;	404	1131	1284	SUCCESS
USH2A	7399	.	GRCh37	1	216073535	216073535	+	synonymous_variant	Silent	SNP	C	C	T	rs777803742	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	68	0	ENST00000307340.3:c.7476G>A	p.Ser2492=	p.S2492=	ENST00000307340	NM_206933.2	2492	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS31025.1	7476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAACGATGC	NONE	byFrequency	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	40/72	.	.	.	.	.	.	.	.	rs777803742	40/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;RP5-1111A8.3,intron_variant,,ENST00000414995,;	7863	68	74	SUCCESS
SLC30A10	55532	.	GRCh37	1	220091886	220091886	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	18	0	ENST00000366926.3:c.719-50C>A		p.*240*	ENST00000366926	NM_018713.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31026.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGTGACA	NONE	.	.	.	.	.	ENSP00000355893	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366926	Transcript	.	.	ENSG00000196660	25355	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNT10_HUMAN	SLC30A10	HGNC	B3KR19_HUMAN	.	UPI000040E993	SNV	SLC30A10,intron_variant,,ENST00000536446,;SLC30A10,intron_variant,,ENST00000366926,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,intron_variant,,ENST00000356609,;	.	18	27	SUCCESS
MIA3	375056	.	GRCh37	1	222802656	222802656	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	24	135	0	ENST00000344922.5:c.2096del	p.Gly699AlafsTer4	p.G699Afs*4	ENST00000344922	NM_198551.2	698	caG/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS41470.1	2094	INDELOCATOR*|VARSCANI*|PINDEL	.	AATGCAGGGCAC	NONE	.	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	.	ENSP00000340900	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	deletion	MIA3,frameshift_variant,p.Gly699AlafsTer4,ENST00000344922,;MIA3,frameshift_variant,p.Gly282AlafsTer4,ENST00000354906,;MIA3,frameshift_variant,p.Gly699AlafsTer4,ENST00000344441,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	2119	135	165	SUCCESS
C1orf65	0	.	GRCh37	1	223567608	223567608	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	22	125	0	ENST00000366875.3:c.791T>C	p.Leu264Pro	p.L264P	ENST00000366875	NM_152610.2	264	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS1537.1	791	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTGACCC	NONE	.	.	Pfam_domain:PF15558	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,missense_variant,p.Leu264Pro,ENST00000366875,;	894	125	153	SUCCESS
C1orf65	0	.	GRCh37	1	223567609	223567609	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	24	124	0	ENST00000366875.3:c.792G>T	p.Leu264=	p.L264=	ENST00000366875	NM_152610.2	264	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1537.1	792	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGACCCG	NONE	.	.	Pfam_domain:PF15558	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,synonymous_variant,p.%3D,ENST00000366875,;	895	124	155	SUCCESS
LBR	3930	.	GRCh37	1	225609820	225609820	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778823931	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	68	0	ENST00000272163.4:c.325G>T	p.Ala109Ser	p.A109S	ENST00000272163	NM_002296.3	109	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1545.1	325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCTTCCT	NONE	.	.	hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32	.	.	ENSP00000339883	.	3/14	.	.	.	.	.	.	.	.	rs778823931	3/14	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.73)	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	LBR,missense_variant,p.Ala109Ser,ENST00000338179,;LBR,missense_variant,p.Ala109Ser,ENST00000425080,;LBR,missense_variant,p.Ala109Ser,ENST00000272163,;LBR,downstream_gene_variant,,ENST00000421383,;LBR,non_coding_transcript_exon_variant,,ENST00000488632,;LBR,upstream_gene_variant,,ENST00000487054,;	451	68	75	SUCCESS
OBSCN	84033	.	GRCh37	1	228553142	228553142	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1010880438	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	26	109	1	ENST00000422127.1:c.18944A>G	p.Glu6315Gly	p.E6315G	ENST00000422127	NM_001098623.2	6315	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS59204.1	21815	RADIA|VARSCANS	.	GATGGAGGGTG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	93/116	.	.	.	.	.	.	.	.	.	93/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.121)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Glu3949Gly,ENST00000366707,;OBSCN,missense_variant,p.Glu932Gly,ENST00000441106,;OBSCN,missense_variant,p.Glu6315Gly,ENST00000422127,;OBSCN,missense_variant,p.Glu7272Gly,ENST00000570156,;OBSCN,downstream_gene_variant,,ENST00000366709,;OBSCN,downstream_gene_variant,,ENST00000284548,;OBSCN,downstream_gene_variant,,ENST00000474237,;	21889	111	129	SUCCESS
KIAA1522	57648	.	GRCh37	1	33236078	33236078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	31	0	ENST00000373480.1:c.1121C>T	p.Ser374Phe	p.S374F	ENST00000373480	NM_001198972.1	374	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS41298.1	1298	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCCTCTA	NONE	.	.	hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF6	.	.	ENSP00000383851	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000401073	Transcript	.	.	ENSG00000162522	29301	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	K1522_HUMAN	KIAA1522	HGNC	.	.	UPI000022ACD0	SNV	KIAA1522,missense_variant,p.Ser385Phe,ENST00000373481,;KIAA1522,missense_variant,p.Ser374Phe,ENST00000373480,;KIAA1522,missense_variant,p.Ser433Phe,ENST00000401073,;KIAA1522,intron_variant,,ENST00000294521,;YARS,downstream_gene_variant,,ENST00000373477,;YARS,downstream_gene_variant,,ENST00000469100,;YARS,downstream_gene_variant,,ENST00000490826,;KIAA1522,downstream_gene_variant,,ENST00000468130,;	1368	31	23	SUCCESS
THRAP3	9967	.	GRCh37	1	36757042	36757042	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	63	253	0	ENST00000354618.5:c.1813C>T	p.Gln605Ter	p.Q605*	ENST00000354618	NM_005119.3	605	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS405.1	1813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACAGGAG	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268:SF16,hmmpanther:PTHR15268	.	.	ENSP00000346634	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000354618	Transcript	.	.	ENSG00000054118	22964	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR150_HUMAN	THRAP3	HGNC	E9PML1_HUMAN	.	UPI0000203F28	SNV	THRAP3,stop_gained,p.Gln605Ter,ENST00000354618,;THRAP3,stop_gained,p.Gln605Ter,ENST00000469141,;THRAP3,non_coding_transcript_exon_variant,,ENST00000466743,;	2037	253	198	SUCCESS
NASP	4678	.	GRCh37	1	46083194	46083194	+	synonymous_variant	Silent	SNP	G	G	A	rs1423861702	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	44	0	ENST00000350030.3:c.2217G>A	p.Pro739=	p.P739=	ENST00000350030	NM_002482.3	739	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS524.1	2217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGGAGGT	NONE	.	.	hmmpanther:PTHR15081:SF1,hmmpanther:PTHR15081	.	.	ENSP00000255120	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000350030	Transcript	.	.	ENSG00000132780	7644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NASP_HUMAN	NASP	HGNC	Q9P1N1_HUMAN,B4DS57_HUMAN	.	UPI000012FDA0	SNV	NASP,synonymous_variant,p.%3D,ENST00000402363,;NASP,synonymous_variant,p.%3D,ENST00000350030,;NASP,synonymous_variant,p.%3D,ENST00000537798,;NASP,synonymous_variant,p.%3D,ENST00000351223,;NASP,synonymous_variant,p.%3D,ENST00000531612,;NASP,synonymous_variant,p.%3D,ENST00000372052,;NASP,intron_variant,,ENST00000534450,;CCDC17,downstream_gene_variant,,ENST00000445048,;NASP,downstream_gene_variant,,ENST00000528238,;CCDC17,downstream_gene_variant,,ENST00000528266,;CCDC17,downstream_gene_variant,,ENST00000343901,;CCDC17,downstream_gene_variant,,ENST00000421127,;NASP,downstream_gene_variant,,ENST00000525515,;NASP,downstream_gene_variant,,ENST00000437901,;NASP,non_coding_transcript_exon_variant,,ENST00000530073,;CCDC17,downstream_gene_variant,,ENST00000464739,;NASP,non_coding_transcript_exon_variant,,ENST00000481782,;NASP,non_coding_transcript_exon_variant,,ENST00000472408,;CCDC17,downstream_gene_variant,,ENST00000525599,;NASP,downstream_gene_variant,,ENST00000437362,;NASP,downstream_gene_variant,,ENST00000527359,;NASP,downstream_gene_variant,,ENST00000527932,;CCDC17,downstream_gene_variant,,ENST00000372044,;CCDC17,downstream_gene_variant,,ENST00000479529,;NASP,downstream_gene_variant,,ENST00000453748,;CCDC17,downstream_gene_variant,,ENST00000482416,;CCDC17,downstream_gene_variant,,ENST00000491755,;	2304	44	32	SUCCESS
BEND5	79656	.	GRCh37	1	49242456	49242456	+	synonymous_variant	Silent	SNP	C	C	T	rs548809089	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	31	0	ENST00000371833.3:c.48G>A	p.Leu16=	p.L16=	ENST00000371833	NM_024603.2	16	ctG/ctA	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS552.2	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGCAGCGC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR14628	T:0	.	ENSP00000360899	T:0.003	1/6	.	.	.	.	.	.	.	.	rs548809089	1/6	PASS	ENST00000371833	Transcript	.	T:0.0006	ENSG00000162373	25668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	BEND5_HUMAN	BEND5	HGNC	.	.	UPI00002042F4	SNV	BEND5,synonymous_variant,p.%3D,ENST00000371833,;AGBL4,intron_variant,,ENST00000371839,;AGBL4,intron_variant,,ENST00000416121,;AGBL4,intron_variant,,ENST00000371838,;BEND5,non_coding_transcript_exon_variant,,ENST00000480399,;BEND5,non_coding_transcript_exon_variant,,ENST00000463562,;BEND5,upstream_gene_variant,,ENST00000489956,;	135	31	49	SUCCESS
KLHL21	9903	.	GRCh37	1	6661869	6661869	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	92	0	ENST00000377658.4:c.1009A>T	p.Ile337Phe	p.I337F	ENST00000377658	NM_014851.2	337	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS30575.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGATGTCAT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF7,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000366886	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377658	Transcript	.	.	ENSG00000162413	29041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.875)	.	deleterious(0)	.	KLH21_HUMAN	KLHL21	HGNC	Q2NKK7_HUMAN,K7ESH2_HUMAN,K7EMF2_HUMAN,K7ELI0_HUMAN	.	UPI0000070D85	SNV	KLHL21,missense_variant,p.Ile337Phe,ENST00000377663,;KLHL21,missense_variant,p.Ile337Phe,ENST00000377658,;KLHL21,intron_variant,,ENST00000463043,;KLHL21,intron_variant,,ENST00000467612,;KLHL21,upstream_gene_variant,,ENST00000496707,;	1061	92	75	SUCCESS
CAMTA1	23261	.	GRCh37	1	7724363	7724363	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	56	0	ENST00000303635.7:c.1756T>G	p.Phe586Val	p.F586V	ENST00000303635	NM_015215.2	586	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS30576.1	1756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTTCAGC	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious_low_confidence(0)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Phe586Val,ENST00000303635,;CAMTA1,missense_variant,p.Phe586Val,ENST00000439411,;	1963	56	44	SUCCESS
NFS1	9054	.	GRCh37	20	34286442	34286442	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	229	43	226	0	ENST00000374092.4:c.168G>A	p.Leu56=	p.L56=	ENST00000374092	NM_021100.4	56	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13262.1	168	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCGCAGCAC	NONE	.	.	PIRSF_domain:PIRSF005572	.	.	ENSP00000363205	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000374092	Transcript	1	.	ENSG00000244005	15910	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NFS1_HUMAN	NFS1	HGNC	Q5QP19_HUMAN,B4DNL7_HUMAN,A2A2M1_HUMAN	.	UPI000013D34D	SNV	NFS1,synonymous_variant,p.%3D,ENST00000374092,;NFS1,synonymous_variant,p.%3D,ENST00000541387,;NFS1,synonymous_variant,p.%3D,ENST00000306750,;NFS1,5_prime_UTR_variant,,ENST00000397425,;NFS1,5_prime_UTR_variant,,ENST00000374085,;NFS1,5_prime_UTR_variant,,ENST00000540053,;NFS1,5_prime_UTR_variant,,ENST00000419569,;ROMO1,upstream_gene_variant,,ENST00000374077,;ROMO1,upstream_gene_variant,,ENST00000374078,;ROMO1,upstream_gene_variant,,ENST00000397416,;ROMO1,upstream_gene_variant,,ENST00000374072,;ROMO1,upstream_gene_variant,,ENST00000336695,;NFS1,non_coding_transcript_exon_variant,,ENST00000421540,;NFS1,synonymous_variant,p.%3D,ENST00000456462,;NFS1,5_prime_UTR_variant,,ENST00000413203,;NFS1,5_prime_UTR_variant,,ENST00000440385,;	239	226	273	SUCCESS
GNAS	2778	.	GRCh37	20	57484420	57484420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11554273	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	30	145	0	ENST00000371085.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000371085	NM_000516.4	201	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS46622.1	2530	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGTGTC	SITE|p.R844C|c.2530C>T|31,SITE|p.R201C|c.601C>T|420,BUFFER|p.R201S|c.601C>A|15,BUFFER|p.R844H|c.2531G>A|25,BUFFER|p.R201L|c.602G>T|3,BUFFER|p.R201H|c.602G>A|306	.	.	hmmpanther:PTHR10218:SF36,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540,Superfamily_domains:SSF47895,Prints_domain:PR00318	.	.	ENSP00000360141	.	8/13	.	.	.	.	.	.	.	.	COSM27899,COSM1757313,COSM27887,COSM1566192,COSM123397	8/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1,1,1,1	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Arg201Cys,ENST00000371085,;GNAS,missense_variant,p.Arg187Cys,ENST00000306090,;GNAS,missense_variant,p.Arg142Cys,ENST00000604005,;GNAS,missense_variant,p.Arg202Cys,ENST00000354359,;GNAS,missense_variant,p.Arg187Cys,ENST00000371095,;GNAS,missense_variant,p.Arg830Cys,ENST00000371102,;GNAS,missense_variant,p.Arg186Cys,ENST00000265620,;GNAS,missense_variant,p.Arg844Cys,ENST00000371100,;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000482112,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000472183,;GNAS,non_coding_transcript_exon_variant,,ENST00000464788,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000467227,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,upstream_gene_variant,,ENST00000475610,;	3082	145	185	SUCCESS
CDH26	60437	.	GRCh37	20	58564047	58564047	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	40	0	ENST00000348616.4:c.1112T>A	p.Leu371His	p.L371H	ENST00000348616	NM_177980.2	371	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS13485.1	1112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTTCAGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000339390	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(0.08)	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,missense_variant,p.Leu371His,ENST00000244047,;CDH26,missense_variant,p.Leu371His,ENST00000348616,;CDH26,upstream_gene_variant,,ENST00000370991,;CDH26,non_coding_transcript_exon_variant,,ENST00000477058,;	1412	40	61	SUCCESS
JAM2	58494	.	GRCh37	21	27078305	27078305	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs201705901	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	46	213	0	ENST00000480456.1:c.712A>G	p.Ser238Gly	p.S238G	ENST00000480456	NM_001270407.1	238	Agt/Ggt	0	G:0.0005	.	.	.	.	G	S/G	protein_coding	YES	CCDS58787.1	712	RADIA|MUTECT|MUSE|VARSCANS	.	ACATAAGTGGC	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF79	.	G:0.0001	ENSP00000383376	.	7/10	.	.	.	.	.	.	.	.	rs201705901	7/10	PASS	ENST00000400532	Transcript	.	.	ENSG00000154721	14686	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.11)	.	JAM2_HUMAN	JAM2	HGNC	.	.	UPI0000035970	SNV	JAM2,missense_variant,p.Ser238Gly,ENST00000400532,;JAM2,missense_variant,p.Ser238Gly,ENST00000480456,;JAM2,missense_variant,p.Ser202Gly,ENST00000425221,;JAM2,missense_variant,p.Ser238Gly,ENST00000312957,;JAM2,missense_variant,p.Ser194Gly,ENST00000460679,;JAM2,non_coding_transcript_exon_variant,,ENST00000492962,;	1262	213	208	SUCCESS
TUBA8	51807	.	GRCh37	22	18604433	18604433	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754887058	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	72	169	0	ENST00000330423.3:c.191G>A	p.Arg64Gln	p.R64Q	ENST00000330423	NM_018943.2	64	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13751.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGGGCCG	NONE	byFrequency	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF52,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000333326	.	2/5	.	.	.	.	.	.	.	.	rs754887058,rs780056089	2/5	PASS	ENST00000330423	Transcript	.	.	ENSG00000183785	12410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0.02)	.	TBA8_HUMAN	TUBA8	HGNC	C9K0S6_HUMAN	.	UPI0000136990	SNV	TUBA8,missense_variant,p.Arg64Gln,ENST00000330423,;TUBA8,missense_variant,p.Arg88Gln,ENST00000416740,;TUBA8,5_prime_UTR_variant,,ENST00000426208,;TUBA8,5_prime_UTR_variant,,ENST00000316027,;PEX26,missense_variant,p.Gly187Arg,ENST00000474897,;	264	170	178	SUCCESS
SERPIND1	3053	.	GRCh37	22	21133628	21133628	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763861315	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	43	0	ENST00000215727.5:c.28A>G	p.Ile10Val	p.I10V	ENST00000215727	NM_000185.3	10	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13783.1	28	RADIA|MUTECT	.	TTCTCATTTTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000215727	.	2/5	.	.	.	.	.	.	.	.	rs763861315	2/5	PASS	ENST00000215727	Transcript	.	.	ENSG00000099937	4838	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.94)	.	HEP2_HUMAN	SERPIND1	HGNC	.	.	UPI000012C603	SNV	SERPIND1,missense_variant,p.Ile10Val,ENST00000406799,;SERPIND1,missense_variant,p.Ile10Val,ENST00000215727,;PI4KA,intron_variant,,ENST00000572273,;PI4KA,intron_variant,,ENST00000255882,;PI4KA,intron_variant,,ENST00000466162,;PI4KA,intron_variant,,ENST00000490873,;PI4KA,intron_variant,,ENST00000484220,;	311	43	34	SUCCESS
SEZ6L	23544	.	GRCh37	22	26695027	26695027	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	84	0	ENST00000248933.6:c.1240G>A	p.Val414Met	p.V414M	ENST00000248933		414	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13833.1	1240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGTGGCC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS50923	.	.	ENSP00000248933	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.11)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Val414Met,ENST00000529632,;SEZ6L,missense_variant,p.Val414Met,ENST00000248933,;SEZ6L,missense_variant,p.Val414Met,ENST00000360929,;SEZ6L,missense_variant,p.Val414Met,ENST00000343706,;SEZ6L,missense_variant,p.Val187Met,ENST00000402979,;SEZ6L,missense_variant,p.Val187Met,ENST00000403121,;SEZ6L,missense_variant,p.Val414Met,ENST00000404234,;	1335	84	123	SUCCESS
MTMR3	8897	.	GRCh37	22	30415674	30415674	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	62	0	ENST00000401950.2:c.2026G>A	p.Ala676Thr	p.A676T	ENST00000401950	NM_021090.3	676	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13870.1	2026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGCCGAG	NONE	.	.	hmmpanther:PTHR10807:SF66,hmmpanther:PTHR10807	.	.	ENSP00000384651	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000401950	Transcript	.	.	ENSG00000100330	7451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	MTMR3_HUMAN	MTMR3	HGNC	Q9UPM2_HUMAN,G5E953_HUMAN,C9JLU3_HUMAN	.	UPI0000073EF2	SNV	MTMR3,missense_variant,p.Ala676Thr,ENST00000406629,;MTMR3,missense_variant,p.Ala676Thr,ENST00000333027,;MTMR3,missense_variant,p.Ala676Thr,ENST00000351488,;MTMR3,missense_variant,p.Ala676Thr,ENST00000401950,;MTMR3,missense_variant,p.Ala540Thr,ENST00000323630,;CTA-85E5.10,intron_variant,,ENST00000453743,;CTA-85E5.10,intron_variant,,ENST00000429350,;MTMR3,upstream_gene_variant,,ENST00000491251,;MTMR3,downstream_gene_variant,,ENST00000492087,;	2368	62	61	SUCCESS
LARGE	0	.	GRCh37	22	33670547	33670547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1255313940	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	37	136	0	ENST00000354992.2:c.2137G>A	p.Asp713Asn	p.D713N	ENST00000354992	NM_004737.4	713	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13912.1	2137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCGAAGC	NONE	.	.	hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF18,Pfam_domain:PF13896	.	.	ENSP00000347088	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000354992	Transcript	.	.	ENSG00000133424	6511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LARGE_HUMAN	LARGE	HGNC	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN	.	UPI000012E200	SNV	LARGE,missense_variant,p.Asp512Asn,ENST00000452586,;LARGE,missense_variant,p.Asp713Asn,ENST00000354992,;LARGE,missense_variant,p.Asp664Asn,ENST00000437602,;LARGE,missense_variant,p.Asp661Asn,ENST00000337431,;LARGE,missense_variant,p.Asp661Asn,ENST00000402320,;LARGE,missense_variant,p.Asp713Asn,ENST00000397394,;LARGE,intron_variant,,ENST00000609799,;LARGE,intron_variant,,ENST00000608642,;LARGE,intron_variant,,ENST00000610186,;	2709	136	169	SUCCESS
TBC1D8	11138	.	GRCh37	2	101666978	101666978	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	50	149	0	ENST00000376840.4:c.712G>C	p.Asp238His	p.D238H	ENST00000376840		238	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS46375.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCCAGGT	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218	.	.	ENSP00000366036	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000376840	Transcript	.	.	ENSG00000204634	17791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	deleterious(0.01)	.	TBCD8_HUMAN	TBC1D8	HGNC	.	.	UPI00015ADD19	SNV	TBC1D8,missense_variant,p.Asp238His,ENST00000376840,;TBC1D8,missense_variant,p.Asp253His,ENST00000409318,;	712	149	131	SUCCESS
TBC1D8	11138	.	GRCh37	2	101666979	101666979	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	50	152	0	ENST00000376840.4:c.711G>T	p.Leu237=	p.L237=	ENST00000376840		237	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46375.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCAGGTT	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218	.	.	ENSP00000366036	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000376840	Transcript	.	.	ENSG00000204634	17791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCD8_HUMAN	TBC1D8	HGNC	.	.	UPI00015ADD19	SNV	TBC1D8,synonymous_variant,p.%3D,ENST00000376840,;TBC1D8,synonymous_variant,p.%3D,ENST00000409318,;	711	152	133	SUCCESS
KLF11	8462	.	GRCh37	2	10188154	10188154	+	synonymous_variant	Silent	SNP	C	C	T	rs777257289	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	55	0	ENST00000305883.1:c.690C>T	p.Ser230=	p.S230=	ENST00000305883	NM_003597.4	230	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1668.1	690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCCTGTCA	NONE	.	.	hmmpanther:PTHR23223:SF8,hmmpanther:PTHR23223	.	.	ENSP00000307023	.	3/4	.	.	.	.	.	.	.	.	rs777257289	3/4	PASS	ENST00000305883	Transcript	.	.	ENSG00000172059	11811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLF11_HUMAN	KLF11	HGNC	Q53QU8_HUMAN,E7EX78_HUMAN,C9JM94_HUMAN,B5MCC4_HUMAN	.	UPI000012DEDA	SNV	KLF11,synonymous_variant,p.%3D,ENST00000540845,;KLF11,synonymous_variant,p.%3D,ENST00000535335,;KLF11,synonymous_variant,p.%3D,ENST00000305883,;KLF11,downstream_gene_variant,,ENST00000440320,;KLF11,downstream_gene_variant,,ENST00000401510,;KLF11,downstream_gene_variant,,ENST00000448523,;	852	55	58	SUCCESS
FBLN7	129804	.	GRCh37	2	112942913	112942913	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	62	0	ENST00000331203.2:c.944C>A	p.Pro315Gln	p.P315Q	ENST00000331203	NM_001128165.1	315	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS2095.1	944	MUTECT|MUSE	.	GTCTCCATTGT	NONE	.	.	hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF17,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000331411	.	7/8	.	.	.	.	.	.	.	.	COSM3565309	7/8	PASS	ENST00000331203	Transcript	.	.	ENSG00000144152	26740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.918)	.	deleterious(0.03)	1	FBLN7_HUMAN	FBLN7	HGNC	B3KW35_HUMAN	.	UPI000004E556	SNV	FBLN7,missense_variant,p.Pro137Gln,ENST00000272559,;FBLN7,missense_variant,p.Pro269Gln,ENST00000409450,;FBLN7,missense_variant,p.Pro315Gln,ENST00000331203,;FBLN7,missense_variant,p.Pro209Gln,ENST00000441565,;FBLN7,missense_variant,p.Pro315Gln,ENST00000409903,;FBLN7,missense_variant,p.Pro181Gln,ENST00000409667,;	1215	62	55	SUCCESS
LRP1B	53353	.	GRCh37	2	141598619	141598619	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756168629	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	41	173	0	ENST00000389484.3:c.4982G>A	p.Arg1661His	p.R1661H	ENST00000389484	NM_018557.2	1661	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2182.1	4982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTACGTGAC	NONE	byFrequency	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	30/91	.	.	.	.	.	.	.	.	rs756168629	30/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Arg1661His,ENST00000389484,;	5954	174	155	SUCCESS
TTN	7273	.	GRCh37	2	179440745	179440745	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	68	0	ENST00000591111.1:c.65191C>G	p.Pro21731Ala	p.P21731A	ENST00000591111		21731	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS59435.1	70114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGACGAC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro14432Ala,ENST00000359218,;TTN,missense_variant,p.Pro21731Ala,ENST00000591111,;TTN,missense_variant,p.Pro23372Ala,ENST00000589042,;TTN,missense_variant,p.Pro14499Ala,ENST00000342175,;TTN,missense_variant,p.Pro20804Ala,ENST00000342992,;TTN,missense_variant,p.Pro14307Ala,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	70339	68	54	SUCCESS
FN1	2335	.	GRCh37	2	216248174	216248174	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140153061	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	38	231	1	ENST00000359671.1:c.4654G>A	p.Asp1552Asn	p.D1552N	ENST00000359671		1552	Gat/Aat	0	.	T:0.0008	.	T:0	.	T	D/N	protein_coding	YES	CCDS42814.1	4927	RADIA|MUTECT|MUSE|VARSCANS	.	AACATCGGTCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	.	ENSP00000346839	T:0	31/46	.	.	.	.	.	.	.	.	rs140153061,COSM1016174,COSM1405299	31/46	PASS	ENST00000354785	Transcript	.	T:0.0002	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.128)	T:0	deleterious(0.04)	0,1,1	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Asp1643Asn,ENST00000432072,;FN1,missense_variant,p.Asp1552Asn,ENST00000443816,;FN1,missense_variant,p.Asp1552Asn,ENST00000345488,;FN1,missense_variant,p.Asp1643Asn,ENST00000354785,;FN1,missense_variant,p.Asp1552Asn,ENST00000359671,;FN1,missense_variant,p.Asp1552Asn,ENST00000357009,;FN1,missense_variant,p.Asp1552Asn,ENST00000446046,;FN1,missense_variant,p.Asp1552Asn,ENST00000357867,;FN1,missense_variant,p.Asp1552Asn,ENST00000421182,;FN1,missense_variant,p.Asp1552Asn,ENST00000346544,;FN1,missense_variant,p.Asp1552Asn,ENST00000336916,;FN1,missense_variant,p.Asp359Asn,ENST00000456923,;FN1,missense_variant,p.Asp1643Asn,ENST00000323926,;FN1,missense_variant,p.Asp1552Asn,ENST00000356005,;FN1,non_coding_transcript_exon_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,non_coding_transcript_exon_variant,,ENST00000480737,;FN1,upstream_gene_variant,,ENST00000474036,;	5297	232	206	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656071	40656071	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	78	0	ENST00000332839.4:c.1350A>T	p.Thr450=	p.T450=	ENST00000332839	NM_021097.2	450	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1806.1	1350	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTGTGCC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,synonymous_variant,p.%3D,ENST00000408028,;SLC8A1,synonymous_variant,p.%3D,ENST00000406785,;SLC8A1,synonymous_variant,p.%3D,ENST00000542024,;SLC8A1,synonymous_variant,p.%3D,ENST00000403092,;SLC8A1,synonymous_variant,p.%3D,ENST00000405269,;SLC8A1,synonymous_variant,p.%3D,ENST00000332839,;SLC8A1,synonymous_variant,p.%3D,ENST00000542756,;SLC8A1,synonymous_variant,p.%3D,ENST00000406391,;SLC8A1,synonymous_variant,p.%3D,ENST00000405901,;SLC8A1,synonymous_variant,p.%3D,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,synonymous_variant,p.%3D,ENST00000407929,;	1384	78	62	SUCCESS
IMMT	10989	.	GRCh37	2	86408465	86408465	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs754210825	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	81	0	ENST00000410111.3:c.76C>G	p.Pro26Ala	p.P26A	ENST00000410111	NM_001100169.1	26	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS46355.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGACGGA	NONE	.	.	hmmpanther:PTHR15415,hmmpanther:PTHR15415:SF7	.	.	ENSP00000387262	.	2/15	.	.	.	.	.	.	.	.	rs754210825	2/15	PASS	ENST00000410111	Transcript	.	.	ENSG00000132305	6047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious_low_confidence(0.04)	.	IMMT_HUMAN	IMMT	HGNC	.	.	UPI0000073828	SNV	IMMT,missense_variant,p.Pro26Ala,ENST00000409051,;IMMT,missense_variant,p.Pro26Ala,ENST00000449247,;IMMT,missense_variant,p.Pro26Ala,ENST00000442664,;IMMT,missense_variant,p.Pro26Ala,ENST00000410111,;IMMT,5_prime_UTR_variant,,ENST00000254636,;IMMT,missense_variant,p.Pro26Ala,ENST00000409258,;IMMT,non_coding_transcript_exon_variant,,ENST00000486633,;IMMT,non_coding_transcript_exon_variant,,ENST00000474969,;	464	81	74	SUCCESS
VWA3B	200403	.	GRCh37	2	98744813	98744813	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	21	140	0	ENST00000477737.1:c.814G>T	p.Ala272Ser	p.A272S	ENST00000477737	NM_144992.4	272	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42718.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACGCCAGA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	6/28	.	.	.	.	.	.	.	.	COSM4096502	6/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.934)	.	deleterious(0.04)	1	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,missense_variant,p.Ala122Ser,ENST00000451075,;VWA3B,missense_variant,p.Ala272Ser,ENST00000477737,;VWA3B,missense_variant,p.Ala272Ser,ENST00000435344,;VWA3B,intron_variant,,ENST00000448079,;VWA3B,missense_variant,p.Ala272Ser,ENST00000416277,;VWA3B,missense_variant,p.Ala272Ser,ENST00000433678,;VWA3B,3_prime_UTR_variant,,ENST00000422503,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000465930,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;VWA3B,intron_variant,,ENST00000448638,;	1018	141	105	SUCCESS
CD47	961	.	GRCh37	3	107799113	107799113	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	34	168	0	ENST00000361309.5:c.125T>G	p.Phe42Cys	p.F42C	ENST00000361309	NM_001777.3	42	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS43126.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAAAGCAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10613,hmmpanther:PTHR10613:SF0,Gene3D:2.60.40.10,Pfam_domain:PF08204,Superfamily_domains:SSF48726	.	.	ENSP00000355361	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000361309	Transcript	.	.	ENSG00000196776	1682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.778)	.	tolerated(0.1)	.	CD47_HUMAN	CD47	HGNC	.	.	UPI0000049C6C	SNV	CD47,missense_variant,p.Phe42Cys,ENST00000361309,;CD47,missense_variant,p.Phe42Cys,ENST00000355354,;	231	168	139	SUCCESS
CHCHD6	84303	.	GRCh37	3	126445955	126445955	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	45	200	0	ENST00000290913.3:c.122C>T	p.Pro41Leu	p.P41L	ENST00000290913	NM_032343.2	41	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3041.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21588,hmmpanther:PTHR21588:SF3,Pfam_domain:PF05300	.	.	ENSP00000290913	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000290913	Transcript	.	.	ENSG00000159685	28184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	tolerated(0.45)	.	CHCH6_HUMAN	CHCHD6	HGNC	.	.	UPI0000034DFB	SNV	CHCHD6,missense_variant,p.Pro41Leu,ENST00000508789,;CHCHD6,missense_variant,p.Pro41Leu,ENST00000290913,;CHCHD6,upstream_gene_variant,,ENST00000513253,;CHCHD6,non_coding_transcript_exon_variant,,ENST00000514908,;CHCHD6,missense_variant,p.Pro41Leu,ENST00000503119,;	215	200	190	SUCCESS
BSN	8927	.	GRCh37	3	49688366	49688366	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	81	0	ENST00000296452.4:c.1840A>G	p.Thr614Ala	p.T614A	ENST00000296452	NM_003458.3	614	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2800.1	1840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACTAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Thr614Ala,ENST00000296452,;BSN,non_coding_transcript_exon_variant,,ENST00000467456,;	1954	81	45	SUCCESS
BAP1	8314	.	GRCh37	3	52440295	52440295	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs776240891	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	57	144	1	ENST00000460680.1:c.757C>T	p.Gln253Ter	p.Q253*	ENST00000460680	NM_004656.3	253	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS2853.1	757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGACGGT	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	9/17	.	.	.	.	.	.	.	.	rs776240891,COSM1424464,COSM51978	9/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,stop_gained,p.Gln235Ter,ENST00000296288,;BAP1,stop_gained,p.Gln253Ter,ENST00000460680,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,downstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;	1229	145	99	SUCCESS
ITIH3	3699	.	GRCh37	3	52835121	52835121	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762580849	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	71	0	ENST00000449956.2:c.1342C>T	p.Arg448Trp	p.R448W	ENST00000449956	NM_002217.3	448	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS46845.1	1342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCGGCGC	NONE	byFrequency	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR10338:SF24,hmmpanther:PTHR10338,PROSITE_profiles:PS50234	.	.	ENSP00000415769	.	11/22	.	.	.	.	.	.	.	.	rs762580849	11/22	PASS	ENST00000449956	Transcript	.	.	ENSG00000162267	6168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ITIH3_HUMAN	ITIH3	HGNC	.	.	UPI00005CE290	SNV	ITIH3,missense_variant,p.Arg448Trp,ENST00000416872,;ITIH3,missense_variant,p.Arg448Trp,ENST00000449956,;ITIH3,downstream_gene_variant,,ENST00000465243,;ITIH3,downstream_gene_variant,,ENST00000463893,;ITIH3,non_coding_transcript_exon_variant,,ENST00000464804,;ITIH3,upstream_gene_variant,,ENST00000493136,;ITIH3,upstream_gene_variant,,ENST00000495622,;ITIH3,upstream_gene_variant,,ENST00000475931,;ITIH3,upstream_gene_variant,,ENST00000465314,;	1348	71	56	SUCCESS
NPY5R	4889	.	GRCh37	4	164271533	164271533	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	255	80	317	0	ENST00000338566.3:c.108T>G	p.Ser36Arg	p.S36R	ENST00000338566	NM_006174.2	36	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS3804.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGTGTAGA	NONE	.	.	hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01016	.	.	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.13)	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,missense_variant,p.Ser36Arg,ENST00000506953,;NPY5R,missense_variant,p.Ser36Arg,ENST00000515560,;NPY5R,missense_variant,p.Ser36Arg,ENST00000338566,;	1630	317	336	SUCCESS
ZCCHC4	29063	.	GRCh37	4	25351159	25351159	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs770238647	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	248	38	201	0	ENST00000302874.4:c.805G>T	p.Glu269Ter	p.E269*	ENST00000302874	NM_024936.2	269	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43218.1	805	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGAAGGA	NONE	.	.	hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2,Pfam_domain:PF10237	.	.	ENSP00000303468	.	7/13	.	.	.	.	.	.	.	.	rs770238647	7/13	PASS	ENST00000302874	Transcript	.	.	ENSG00000168228	22917	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZCHC4_HUMAN	ZCCHC4	HGNC	.	.	UPI0000251F28	SNV	ZCCHC4,stop_gained,p.Glu134Ter,ENST00000505412,;ZCCHC4,stop_gained,p.Glu269Ter,ENST00000302874,;AC108218.1,upstream_gene_variant,,ENST00000580712,;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,;ZCCHC4,intron_variant,,ENST00000507760,;	829	201	286	SUCCESS
NMU	10874	.	GRCh37	4	56475318	56475318	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	30	122	0	ENST00000264218.3:c.248T>G	p.Phe83Cys	p.F83C	ENST00000264218	NM_006681.2	83	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS3501.1	248	RADIA|MUTECT|MUSE|VARSCANS	.	TCATAAAGCAA	NONE	.	.	hmmpanther:PTHR15390	.	.	ENSP00000264218	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000264218	Transcript	.	.	ENSG00000109255	7859	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.527)	.	deleterious(0.01)	.	NMU_HUMAN	NMU	HGNC	.	.	UPI000012FF95	SNV	NMU,missense_variant,p.Phe67Cys,ENST00000511469,;NMU,missense_variant,p.Phe83Cys,ENST00000507338,;NMU,missense_variant,p.Phe83Cys,ENST00000505262,;NMU,missense_variant,p.Phe83Cys,ENST00000264218,;NMU,non_coding_transcript_exon_variant,,ENST00000509371,;NMU,non_coding_transcript_exon_variant,,ENST00000515325,;	354	122	173	SUCCESS
ENAM	10117	.	GRCh37	4	71508293	71508293	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	46	214	0	ENST00000396073.3:c.1150C>G	p.Pro384Ala	p.P384A	ENST00000396073	NM_031889.2	384	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS3544.2	1150	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCCTCCT	NONE	.	.	Pfam_domain:PF15362,hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784	.	.	ENSP00000379383	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000396073	Transcript	1	.	ENSG00000132464	3344	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.42)	.	ENAM_HUMAN	ENAM	HGNC	Q8NFB4_HUMAN	.	UPI000013CE60	SNV	ENAM,missense_variant,p.Pro384Ala,ENST00000396073,;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	1431	214	279	SUCCESS
EPGN	255324	.	GRCh37	4	75174267	75174267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	41	344	0	ENST00000413830.1:c.17C>T	p.Pro6Leu	p.P6L	ENST00000413830	NM_001270989.1	6	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS59478.1	17	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCAATAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10740,hmmpanther:PTHR10740:SF10	.	.	ENSP00000411898	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000413830	Transcript	.	.	ENSG00000182585	17470	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.39)	.	EPGN_HUMAN	EPGN	HGNC	A0PK19_HUMAN	.	UPI00003D37D1	SNV	EPGN,missense_variant,p.Pro6Leu,ENST00000505212,;EPGN,missense_variant,p.Pro6Leu,ENST00000509145,;EPGN,missense_variant,p.Pro6Leu,ENST00000502358,;EPGN,missense_variant,p.Pro6Leu,ENST00000503098,;EPGN,missense_variant,p.Pro6Leu,ENST00000514968,;EPGN,missense_variant,p.Pro6Leu,ENST00000332112,;EPGN,missense_variant,p.Pro6Leu,ENST00000413830,;EPGN,upstream_gene_variant,,ENST00000446430,;EPGN,missense_variant,p.Pro6Leu,ENST00000502835,;	78	344	300	SUCCESS
PCDHA7	56141	.	GRCh37	5	140216086	140216086	+	synonymous_variant	Silent	SNP	G	G	T	rs1554136017	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	236	316	0	ENST00000525929.1:c.2118G>T	p.Ala706=	p.A706=	ENST00000525929	NM_018910.2	706	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54918.1	2118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCGGTGTC	BUFFER|p.A703T|c.2107G>A|3,BUFFER|p.A703T|c.2107G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,synonymous_variant,p.%3D,ENST00000378125,;PCDHA7,synonymous_variant,p.%3D,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA8,upstream_gene_variant,,ENST00000531613,;PCDHA8,upstream_gene_variant,,ENST00000378123,;	2118	316	422	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222188	140222188	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	46	274	0	ENST00000531613.1:c.1282C>T	p.Arg428Trp	p.R428W	ENST00000531613	NM_018911.2	428	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54919.1	1282	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGCGGGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.06)	.	deleterious_low_confidence(0.04)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Arg428Trp,ENST00000531613,;PCDHA8,missense_variant,p.Arg428Trp,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	1282	274	273	SUCCESS
TCOF1	6949	.	GRCh37	5	149769583	149769583	+	synonymous_variant	Silent	SNP	T	T	C	rs902192448	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	80	84	1	ENST00000377797.3:c.3180T>C	p.Thr1060=	p.T1060=	ENST00000377797	NM_001135243.1	1060	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS54936.1	3180	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTCAGGT	NONE	.	.	hmmpanther:PTHR20787	.	.	ENSP00000421655	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000504761	Transcript	1	.	ENSG00000070814	11654	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCOF_HUMAN	TCOF1	HGNC	Q9UFD4_HUMAN	.	UPI0000EE3736	SNV	TCOF1,synonymous_variant,p.%3D,ENST00000427724,;TCOF1,synonymous_variant,p.%3D,ENST00000513346,;TCOF1,synonymous_variant,p.%3D,ENST00000439160,;TCOF1,synonymous_variant,p.%3D,ENST00000377797,;TCOF1,synonymous_variant,p.%3D,ENST00000451292,;TCOF1,synonymous_variant,p.%3D,ENST00000445265,;TCOF1,synonymous_variant,p.%3D,ENST00000323668,;TCOF1,synonymous_variant,p.%3D,ENST00000504761,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,3_prime_UTR_variant,,ENST00000506767,;TCOF1,non_coding_transcript_exon_variant,,ENST00000506630,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;	3180	86	132	SUCCESS
FAT2	2196	.	GRCh37	5	150932949	150932949	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	68	0	ENST00000261800.5:c.3946-1G>C		p.X1316_splice	ENST00000261800	NM_001447.2	1316		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4317.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCTGAAA	NONE	.	.	.	.	.	ENSP00000261800	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	HIGH	4/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,splice_acceptor_variant,,ENST00000261800,;	.	68	81	SUCCESS
CDH12	1010	.	GRCh37	5	22078853	22078853	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	54	0	ENST00000382254.1:c.-68C>A		p.*23*	ENST00000382254	NM_004061.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3890.1	.	MUTECT|MUSE	.	TCCAGGTTTGA	NONE	.	.	.	.	.	ENSP00000371689	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000382254	Transcript	.	.	ENSG00000154162	1751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD12_HUMAN	CDH12	HGNC	B3KRT0_HUMAN	.	UPI00000622EB	SNV	CDH12,5_prime_UTR_variant,,ENST00000522262,;CDH12,5_prime_UTR_variant,,ENST00000504376,;CDH12,5_prime_UTR_variant,,ENST00000382254,;CDH12,non_coding_transcript_exon_variant,,ENST00000518209,;CDH12,non_coding_transcript_exon_variant,,ENST00000521745,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	1020	54	84	SUCCESS
IL6ST	3572	.	GRCh37	5	55272094	55272094	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	74	266	0	ENST00000336909.5:c.13C>T	p.Gln5Ter	p.Q5*	ENST00000336909		5	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS3971.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGCAACG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036	.	.	ENSP00000370698	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	SNV	IL6ST,stop_gained,p.Gln5Ter,ENST00000522633,;IL6ST,stop_gained,p.Gln5Ter,ENST00000381287,;IL6ST,stop_gained,p.Gln5Ter,ENST00000381293,;IL6ST,stop_gained,p.Gln5Ter,ENST00000336909,;IL6ST,stop_gained,p.Gln5Ter,ENST00000381298,;IL6ST,stop_gained,p.Gln5Ter,ENST00000396816,;IL6ST,stop_gained,p.Gln5Ter,ENST00000536319,;IL6ST,stop_gained,p.Gln5Ter,ENST00000381294,;IL6ST,stop_gained,p.Gln5Ter,ENST00000502326,;IL6ST,stop_gained,p.Gln5Ter,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,stop_gained,p.Gln5Ter,ENST00000503773,;	326	266	289	SUCCESS
BHMT2	23743	.	GRCh37	5	78376532	78376532	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764785479	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	15	180	0	ENST00000255192.3:c.281C>T	p.Ala94Val	p.A94V	ENST00000255192	NM_017614.4	94	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4045.1	281	MUTECT|MUSE|VARSCANS	.	TGCTGCCTGTG	NONE	.	.	PROSITE_profiles:PS50970,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF94,Gene3D:3.20.20.330,Pfam_domain:PF02574,PIRSF_domain:PIRSF037505,Superfamily_domains:SSF82282	.	.	ENSP00000255192	.	4/8	.	.	.	.	.	.	.	.	rs764785479	4/8	PASS	ENST00000255192	Transcript	.	.	ENSG00000132840	1048	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.75)	.	deleterious(0.02)	.	BHMT2_HUMAN	BHMT2	HGNC	E5RH96_HUMAN	.	UPI00000701B9	SNV	BHMT2,missense_variant,p.Ala34Val,ENST00000518666,;BHMT2,missense_variant,p.Ala94Val,ENST00000255192,;BHMT2,intron_variant,,ENST00000521567,;DMGDH,intron_variant,,ENST00000520388,;BHMT2,3_prime_UTR_variant,,ENST00000519743,;BHMT2,non_coding_transcript_exon_variant,,ENST00000518758,;BHMT2,downstream_gene_variant,,ENST00000523472,;BHMT2,upstream_gene_variant,,ENST00000523046,;	347	180	197	SUCCESS
AKAP12	9590	.	GRCh37	6	151670985	151670985	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	25	58	0	ENST00000253332.1:c.1459A>T	p.Lys487Ter	p.K487*	ENST00000253332		487	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS5229.1	1459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGAAGGTG	NONE	.	.	hmmpanther:PTHR23209	.	.	ENSP00000384537	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000402676	Transcript	.	.	ENSG00000131016	370	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKA12_HUMAN	AKAP12	HGNC	.	.	UPI000013CDC7	SNV	AKAP12,stop_gained,p.Lys382Ter,ENST00000359755,;AKAP12,stop_gained,p.Lys389Ter,ENST00000354675,;AKAP12,stop_gained,p.Lys487Ter,ENST00000253332,;AKAP12,stop_gained,p.Lys487Ter,ENST00000402676,;snoU13,upstream_gene_variant,,ENST00000458767,;AKAP12,downstream_gene_variant,,ENST00000490177,;	1699	58	45	SUCCESS
HIST1H4B	0	.	GRCh37	6	26027241	26027241	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	25	146	0	ENST00000377364.3:c.240G>T	p.Lys80Asn	p.K80N	ENST00000377364	NM_003544.2	80	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4572.1	240	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCTTGCG	NONE	.	.	hmmpanther:PTHR10484,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00803,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000366581	.	1/1	.	.	.	.	.	.	.	.	COSM1294206	1/1	PASS	ENST00000377364	Transcript	.	.	ENSG00000124529	4789	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.329)	.	deleterious(0.01)	1	H4_HUMAN	HIST1H4B	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4B,missense_variant,p.Lys80Asn,ENST00000377364,;HIST1H3B,downstream_gene_variant,,ENST00000244661,;HIST1H4A,downstream_gene_variant,,ENST00000359907,;	240	146	173	SUCCESS
HIST1H4E	0	.	GRCh37	6	26204899	26204899	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs779653681	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	29	124	0	ENST00000360441.4:c.27G>C	p.Lys9Asn	p.K9N	ENST00000360441	NM_003545.3	9	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS4593.1	27	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGGGACT	NONE	byFrequency	.	Prints_domain:PR00623,Superfamily_domains:SSF47113,Gene3D:1.10.20.10,hmmpanther:PTHR10484,Low_complexity_(Seg):seg	.	.	ENSP00000353624	.	1/1	.	.	.	.	.	.	.	.	rs779653681	1/1	PASS	ENST00000360441	Transcript	.	.	ENSG00000198518	4790	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.067)	.	tolerated_low_confidence(0.08)	.	H4_HUMAN	HIST1H4E	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4E,missense_variant,p.Lys9Asn,ENST00000360441,;HIST1H2BF,downstream_gene_variant,,ENST00000359985,;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;	42	124	133	SUCCESS
NOTCH4	4855	.	GRCh37	6	32181471	32181471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	79	0	ENST00000375023.3:c.2314G>T	p.Val772Leu	p.V772L	ENST00000375023	NM_004557.3	772	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS34420.1	2314	RADIA|MUTECT|MUSE|VARSCANS	.	AGACACACAGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Superfamily_domains:SSF57196,Superfamily_domains:SSF57184	.	.	ENSP00000364163	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.217)	.	tolerated(0.07)	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Val772Leu,ENST00000375023,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000465528,;NOTCH4,downstream_gene_variant,,ENST00000473562,;	2453	79	107	SUCCESS
TMEM151B	441151	.	GRCh37	6	44241031	44241031	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	27	125	0	ENST00000451188.2:c.364A>T	p.Met122Leu	p.M122L	ENST00000451188	NM_001137560.1	122	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS47437.1	364	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCATGTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4,Pfam_domain:PF14857	.	.	ENSP00000393161	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000451188	Transcript	.	.	ENSG00000178233	21315	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.811)	.	tolerated(0.16)	.	T151B_HUMAN	TMEM151B	HGNC	.	.	UPI00006C0A4E	SNV	TMEM151B,missense_variant,p.Met122Leu,ENST00000451188,;TMEM151B,missense_variant,p.Met122Leu,ENST00000438774,;RP11-444E17.6,missense_variant,p.Met35Leu,ENST00000505802,;	641	125	146	SUCCESS
DST	667	.	GRCh37	6	56417839	56417846	+	frameshift_variant	Frame_Shift_Del	DEL	TCAGTGAC	TCAGTGAC	-	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	TCAGTGAC	TCAGTGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	96	11	90	0	ENST00000244364.6:c.7875_7882del	p.Lys2625AsnfsTer9	p.K2625Nfs*9	ENST00000244364	NM_015548.4	2625	aaGTCACTGAtc/aatc	0	.	.	.	.	.	-	KSLI/NX	protein_coding	YES	CCDS47443.1	7875-7882	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGGATCAGTGACTTATT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	42/84	.	.	.	.	.	.	.	.	.	42/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	deletion	DST,frameshift_variant,p.Lys4713AsnfsTer9,ENST00000446842,;DST,frameshift_variant,p.Lys2951AsnfsTer9,ENST00000370788,;DST,frameshift_variant,p.Lys2625AsnfsTer9,ENST00000244364,;DST,frameshift_variant,p.Lys5217AsnfsTer9,ENST00000370754,;DST,frameshift_variant,p.Lys5037AsnfsTer9,ENST00000361203,;DST,frameshift_variant,p.Lys5039AsnfsTer9,ENST00000370769,;DST,frameshift_variant,p.Lys2951AsnfsTer9,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,downstream_gene_variant,,ENST00000520144,;	8083-8090	90	107	SUCCESS
EYS	346007	.	GRCh37	6	65303132	65303132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	45	233	0	ENST00000370616.2:c.3755G>T	p.Arg1252Ile	p.R1252I	ENST00000370616		1252	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS47445.1	3755	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCTTTGA	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	25/43	.	.	.	.	.	.	.	.	.	25/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.21)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Arg1252Ile,ENST00000370616,;EYS,missense_variant,p.Arg1252Ile,ENST00000370621,;EYS,missense_variant,p.Arg1252Ile,ENST00000503581,;EYS,non_coding_transcript_exon_variant,,ENST00000330816,;	4293	233	288	SUCCESS
MDN1	23195	.	GRCh37	6	90371908	90371908	+	synonymous_variant	Silent	SNP	T	T	C	rs549598677	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	387	132	684	0	ENST00000369393.3:c.14463A>G	p.Ser4821=	p.S4821=	ENST00000369393		4821	tcA/tcG	0	.	A:0	.	A:0	.	C	S	protein_coding	YES	CCDS5024.1	14463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTTGAATT	NONE	byFrequency|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	A:0	.	ENSP00000358400	A:0	87/102	.	.	.	.	.	.	.	.	rs549598677	87/102	PASS	ENST00000369393	Transcript	.	A:0.0004	ENSG00000112159	18302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,synonymous_variant,p.%3D,ENST00000369393,;MDN1,synonymous_variant,p.%3D,ENST00000428876,;	14579	684	519	SUCCESS
GPR63	81491	.	GRCh37	6	97246895	97246895	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	136	0	ENST00000229955.3:c.713G>T	p.Gly238Val	p.G238V	ENST00000229955	NM_030784.3	238	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5036.1	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCCTGGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	deleterious(0.03)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Gly238Val,ENST00000417980,;GPR63,missense_variant,p.Gly238Val,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	1059	136	68	SUCCESS
PPP1R35	221908	.	GRCh37	7	100034075	100034075	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs570366520	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	21	0	ENST00000292330.2:c.-78C>G		p.*26*	ENST00000292330	NM_145030.2			0	.	A:0.0008	.	A:0	.	C	.	protein_coding	YES	CCDS5694.1	.	MUTECT|MUSE	.	CTGCCGCCTCC	NONE	by1000G	.	.	A:0	.	ENSP00000292330	A:0	1/4	.	.	.	.	.	.	.	.	rs570366520	1/4	PASS	ENST00000292330	Transcript	.	A:0.0002	ENSG00000160813	28320	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	PPR35_HUMAN	PPP1R35	HGNC	.	.	UPI000006D9DB	SNV	PPP1R35,5_prime_UTR_variant,,ENST00000292330,;MEPCE,downstream_gene_variant,,ENST00000414441,;MEPCE,downstream_gene_variant,,ENST00000310512,;RP11-758P17.2,non_coding_transcript_exon_variant,,ENST00000492523,;RP11-758P17.3,intron_variant,,ENST00000475250,;PPP1R35,upstream_gene_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;MEPCE,downstream_gene_variant,,ENST00000497759,;PPP1R35,upstream_gene_variant,,ENST00000487452,;PPP1R35,upstream_gene_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;	114	21	15	SUCCESS
SERPINE1	5054	.	GRCh37	7	100771835	100771835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	85	0	ENST00000223095.4:c.161A>G	p.Asn54Ser	p.N54S	ENST00000223095	NM_000602.4	54	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS5711.1	161	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAACGTGG	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF49	.	.	ENSP00000223095	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000223095	Transcript	.	.	ENSG00000106366	8583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	PAI1_HUMAN	SERPINE1	HGNC	B7ZAB0_HUMAN,B7Z1D9_HUMAN	.	UPI0000000CAB	SNV	SERPINE1,missense_variant,p.Asn54Ser,ENST00000223095,;SERPINE1,missense_variant,p.Asn39Ser,ENST00000445463,;	318	85	106	SUCCESS
ATXN7L1	222255	.	GRCh37	7	105278897	105278897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	116	275	1	ENST00000419735.3:c.1105G>A	p.Ala369Thr	p.A369T	ENST00000419735	NM_020725.1	369	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47682.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCCGGCC	NONE	.	.	hmmpanther:PTHR15117:SF1,hmmpanther:PTHR15117	.	.	ENSP00000410759	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000419735	Transcript	.	.	ENSG00000146776	22210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.38)	.	AT7L1_HUMAN	ATXN7L1	HGNC	F8WDE7_HUMAN	.	UPI000162C85E	SNV	ATXN7L1,missense_variant,p.Ala245Thr,ENST00000477775,;ATXN7L1,missense_variant,p.Ala245Thr,ENST00000472195,;ATXN7L1,missense_variant,p.Ala369Thr,ENST00000419735,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000472910,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000485652,;ATXN7L1,3_prime_UTR_variant,,ENST00000474433,;	1151	276	318	SUCCESS
ASB10	136371	.	GRCh37	7	150883617	150883617	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767142527	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	48	0	ENST00000420175.2:c.446G>A	p.Arg149His	p.R149H	ENST00000420175		149	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS47750.2	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGCGGCCC	NONE	byFrequency	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000391137	.	2/6	.	.	.	.	.	.	.	.	rs767142527	2/6	PASS	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.11)	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Arg149His,ENST00000275838,;ASB10,missense_variant,p.Arg194His,ENST00000434669,;ASB10,missense_variant,p.Arg134His,ENST00000377867,;ASB10,missense_variant,p.Arg149His,ENST00000420175,;ASB10,missense_variant,p.Arg194His,ENST00000422024,;ASB10,downstream_gene_variant,,ENST00000415615,;IQCA1P1,downstream_gene_variant,,ENST00000453127,;	471	48	52	SUCCESS
ACTR3B	57180	.	GRCh37	7	152549222	152549222	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	51	193	0	ENST00000256001.8:c.963C>G	p.Leu321=	p.L321=	ENST00000256001	NM_020445.5	321	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5934.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTCTCAGG	NONE	.	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937:SF170,hmmpanther:PTHR11937	.	.	ENSP00000256001	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000256001	Transcript	.	.	ENSG00000133627	17256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARP3B_HUMAN	ACTR3B	HGNC	C9J580_HUMAN,B3KM55_HUMAN	.	UPI0000073AC7	SNV	ACTR3B,synonymous_variant,p.%3D,ENST00000537264,;ACTR3B,synonymous_variant,p.%3D,ENST00000397282,;ACTR3B,synonymous_variant,p.%3D,ENST00000256001,;ACTR3B,intron_variant,,ENST00000377776,;ACTR3B,non_coding_transcript_exon_variant,,ENST00000479402,;	1097	193	195	SUCCESS
RBM33	155435	.	GRCh37	7	155556582	155556582	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	82	0	ENST00000401878.3:c.3056A>T	p.Gln1019Leu	p.Q1019L	ENST00000401878	NM_053043.2	1019	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5941.2	3056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAGCCTG	NONE	.	.	hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2	.	.	ENSP00000384160	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000401878	Transcript	.	.	ENSG00000184863	27223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.05)	.	RBM33_HUMAN	RBM33	HGNC	C9J7M3_HUMAN	.	UPI00015743D7	SNV	RBM33,missense_variant,p.Gln1019Leu,ENST00000401878,;RBM33,missense_variant,p.Gln792Leu,ENST00000392761,;RBM33,5_prime_UTR_variant,,ENST00000341148,;RBM33,5_prime_UTR_variant,,ENST00000438356,;RBM33,upstream_gene_variant,,ENST00000392755,;	3254	82	84	SUCCESS
CCT6P3	643180	.	GRCh37	7	64529085	64529085	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	39	0	ENST00000419314.1:n.783-2A>G		p.X261_splice	ENST00000419314		261		0	.	.	.	.	.	G	.	snoRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATAGGGAA	NONE	.	2575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000384614	Transcript	.	.	ENSG00000207344	32612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SNORA22	RFAM	.	.	.	SNV	SNORA22,downstream_gene_variant,,ENST00000384614,;SNORA15,upstream_gene_variant,,ENST00000384334,;CCT6P3,splice_acceptor_variant,,ENST00000426828,;CCT6P3,splice_acceptor_variant,,ENST00000419314,;CCT6P3,splice_acceptor_variant,,ENST00000452026,;	.	39	63	SUCCESS
AUTS2	26053	.	GRCh37	7	69364274	69364274	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	29	151	1	ENST00000342771.4:c.312A>C	p.Lys104Asn	p.K104N	ENST00000342771	NM_015570.2	104	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS5539.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAAGATGT	BUFFER|p.L108R|c.323T>G|3	.	.	hmmpanther:PTHR14429:SF5,hmmpanther:PTHR14429	.	.	ENSP00000344087	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,missense_variant,p.Lys104Asn,ENST00000342771,;AUTS2,missense_variant,p.Lys104Asn,ENST00000403018,;AUTS2,missense_variant,p.Lys104Asn,ENST00000406775,;AUTS2,splice_region_variant,,ENST00000476695,;	633	152	149	SUCCESS
GTF2IRD1	9569	.	GRCh37	7	73944105	73944105	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1554348257	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	24	83	0	ENST00000265755.3:c.1132C>T	p.Arg378Trp	p.R378W	ENST00000265755	NM_005685.3	378	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS56492.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCGGAAG	SITE|p.R378W|c.1132C>T|3	.	.	Superfamily_domains:0048894,PIRSF_domain:PIRSF016441,Pfam_domain:PF02946,Gene3D:1q60A00,hmmpanther:PTHR11697:SF84,hmmpanther:PTHR11697,PROSITE_profiles:PS51139	.	.	ENSP00000397566	.	9/27	.	.	.	.	.	.	.	.	COSM77823	9/27	PASS	ENST00000455841	Transcript	.	.	ENSG00000006704	4661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	GT2D1_HUMAN	GTF2IRD1	HGNC	.	.	UPI00003BF92B	SNV	GTF2IRD1,missense_variant,p.Arg378Trp,ENST00000476977,;GTF2IRD1,missense_variant,p.Arg410Trp,ENST00000455841,;GTF2IRD1,missense_variant,p.Arg378Trp,ENST00000265755,;GTF2IRD1,missense_variant,p.Arg378Trp,ENST00000424337,;GTF2IRD1,non_coding_transcript_exon_variant,,ENST00000489094,;	1441	83	107	SUCCESS
ZNF804B	219578	.	GRCh37	7	88964869	88964869	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	17	115	0	ENST00000333190.4:c.2573C>A	p.Ser858Ter	p.S858*	ENST00000333190	NM_181646.2	858	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS5613.1	2573	RADIA|MUTECT|MUSE|VARSCANS	.	TTACTCAATAG	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,stop_gained,p.Ser858Ter,ENST00000333190,;	3182	115	134	SUCCESS
ZFHX4	79776	.	GRCh37	8	77765482	77765482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	126	0	ENST00000521891.2:c.6325C>T	p.Leu2109Phe	p.L2109F	ENST00000521891	NM_024721.4	2109	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47878.2	6325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCTCACC	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Leu2064Phe,ENST00000455469,;ZFHX4,missense_variant,p.Leu2083Phe,ENST00000518282,;ZFHX4,missense_variant,p.Leu2064Phe,ENST00000050961,;ZFHX4,missense_variant,p.Leu2109Phe,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	6773	126	150	SUCCESS
NEK6	10783	.	GRCh37	9	127074912	127074912	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	42	0	ENST00000320246.5:c.215C>T	p.Ala72Val	p.A72V	ENST00000320246	NM_014397.5	72	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS48015.1	317	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCTCTGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF212,hmmpanther:PTHR24362,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362702	.	4/11	.	.	.	.	.	.	.	.	COSM3903999,COSM3903997,COSM3903998	4/11	PASS	ENST00000373600	Transcript	.	.	ENSG00000119408	7749	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	probably_damaging(0.955)	.	tolerated(0.18)	1,1,1	NEK6_HUMAN	NEK6	HGNC	Q5TBH2_HUMAN,Q5TBH1_HUMAN,Q5TBG7_HUMAN,Q5TBG4_HUMAN,Q5TBG2_HUMAN,Q5TBG1_HUMAN	.	UPI000013ED34	SNV	NEK6,missense_variant,p.Ala72Val,ENST00000546191,;NEK6,missense_variant,p.Ala72Val,ENST00000373603,;NEK6,missense_variant,p.Ala90Val,ENST00000540326,;NEK6,missense_variant,p.Ala72Val,ENST00000447379,;NEK6,missense_variant,p.Ala106Val,ENST00000394199,;NEK6,missense_variant,p.Ala72Val,ENST00000425237,;NEK6,missense_variant,p.Ala72Val,ENST00000373596,;NEK6,missense_variant,p.Ala72Val,ENST00000320246,;NEK6,missense_variant,p.Ala72Val,ENST00000422297,;NEK6,missense_variant,p.Ala97Val,ENST00000539416,;NEK6,missense_variant,p.Ala72Val,ENST00000545174,;NEK6,missense_variant,p.Ala106Val,ENST00000423785,;NEK6,missense_variant,p.Ala106Val,ENST00000373600,;NEK6,missense_variant,p.Ala72Val,ENST00000444973,;NEK6,intron_variant,,ENST00000454453,;	532	42	24	SUCCESS
SLC35D2	11046	.	GRCh37	9	99113259	99113259	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	24	0	ENST00000253270.7:c.488+126T>C		p.*163*	ENST00000253270	NM_007001.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6717.1	.	RADIA|VARSCANS	.	CTTCAACAGAT	NONE	.	.	.	.	.	ENSP00000253270	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000253270	Transcript	.	.	ENSG00000130958	20799	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S35D2_HUMAN	SLC35D2	HGNC	Q5VZJ2_HUMAN	.	UPI000003778E	SNV	SLC35D2,3_prime_UTR_variant,,ENST00000375257,;SLC35D2,intron_variant,,ENST00000253270,;SLC35D2,intron_variant,,ENST00000375259,;SLC35D2,downstream_gene_variant,,ENST00000482643,;	.	24	26	SUCCESS
CSTF2	1478	.	GRCh37	X	100078295	100078295	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	112	0	ENST00000372972.2:c.322G>T	p.Ala108Ser	p.A108S	ENST00000372972	NM_001325.2	108	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14473.1	322	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGCCCCT	NONE	.	.	hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF57	.	.	ENSP00000362063	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000372972	Transcript	.	.	ENSG00000101811	2484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	tolerated(0.15)	.	CSTF2_HUMAN	CSTF2	HGNC	.	.	UPI000003BCAF	SNV	CSTF2,missense_variant,p.Ala108Ser,ENST00000372972,;CSTF2,missense_variant,p.Ala99Ser,ENST00000413437,;CSTF2,missense_variant,p.Ala108Ser,ENST00000415585,;SNORA9,upstream_gene_variant,,ENST00000365361,;CSTF2,missense_variant,p.Ala108Ser,ENST00000475126,;	338	112	145	SUCCESS
GPRASP1	9737	.	GRCh37	X	101911927	101911927	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760692354	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	43	169	1	ENST00000361600.5:c.3086C>T	p.Thr1029Met	p.T1029M	ENST00000361600	NM_014710.4	1029	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS35352.1	3086	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGTGTT	NONE	.	.	hmmpanther:PTHR15712:SF22,hmmpanther:PTHR15712	.	.	ENSP00000445683	.	6/6	.	.	.	.	.	.	.	.	rs760692354	6/6	PASS	ENST00000537097	Transcript	.	.	ENSG00000198932	24834	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.09)	.	GASP1_HUMAN	GPRASP1	HGNC	.	.	UPI0000073B80	SNV	GPRASP1,missense_variant,p.Thr1029Met,ENST00000415986,;GPRASP1,missense_variant,p.Thr1029Met,ENST00000361600,;GPRASP1,missense_variant,p.Thr1029Met,ENST00000537097,;GPRASP1,missense_variant,p.Thr1029Met,ENST00000444152,;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000602463,;RP4-769N13.6,intron_variant,,ENST00000602366,;GPRASP1,downstream_gene_variant,,ENST00000466098,;	3899	170	216	SUCCESS
BHLHB9	80823	.	GRCh37	X	102005369	102005369	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	308	211	419	0	ENST00000361229.4:c.1446C>A	p.Ile482=	p.I482=	ENST00000361229	NM_030639.2	482	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS14502.1	1446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCAATAT	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	.	.	ENSP00000361820	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372735	Transcript	.	.	ENSG00000198908	29353	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHLH9_HUMAN	BHLHB9	HGNC	.	.	UPI00001C1D50	SNV	BHLHB9,synonymous_variant,p.%3D,ENST00000448867,;BHLHB9,synonymous_variant,p.%3D,ENST00000372735,;BHLHB9,synonymous_variant,p.%3D,ENST00000447531,;BHLHB9,synonymous_variant,p.%3D,ENST00000457056,;BHLHB9,synonymous_variant,p.%3D,ENST00000361229,;BHLHB9,downstream_gene_variant,,ENST00000486988,;BHLHB9,downstream_gene_variant,,ENST00000483294,;	2031	419	520	SUCCESS
TCEAL4	79921	.	GRCh37	X	102842040	102842040	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	85	172	0	ENST00000415568.2:c.437A>T	p.His146Leu	p.H146L	ENST00000415568		146	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS14510.2	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACATGATA	NONE	.	.	hmmpanther:PTHR14754:SF10,hmmpanther:PTHR14754,Pfam_domain:PF04538	.	.	ENSP00000424314	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000472745	Transcript	.	.	ENSG00000133142	26121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	deleterious(0.01)	.	TCAL4_HUMAN	TCEAL4	HGNC	J3KQY4_HUMAN,D6RIH3_HUMAN,D6RHZ1_HUMAN,D6RD44_HUMAN,D6RCE9_HUMAN	.	UPI000006EADD	SNV	TCEAL4,missense_variant,p.His146Leu,ENST00000494801,;TCEAL4,missense_variant,p.His289Leu,ENST00000372629,;TCEAL4,missense_variant,p.His146Leu,ENST00000415568,;TCEAL4,missense_variant,p.His146Leu,ENST00000472484,;TCEAL4,missense_variant,p.His146Leu,ENST00000472745,;TCEAL4,missense_variant,p.His146Leu,ENST00000468024,;TCEAL4,downstream_gene_variant,,ENST00000459722,;TCEAL4,downstream_gene_variant,,ENST00000425011,;TCEAL4,downstream_gene_variant,,ENST00000469586,;TCEAL4,downstream_gene_variant,,ENST00000434216,;TCEAL4,downstream_gene_variant,,ENST00000490644,;TCEAL4,downstream_gene_variant,,ENST00000481555,;	989	172	215	SUCCESS
ARHGAP6	395	.	GRCh37	X	11206890	11206890	+	synonymous_variant	Silent	SNP	C	C	T	rs151308614	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	508	115	535	0	ENST00000337414.4:c.1035G>A	p.Thr345=	p.T345=	ENST00000337414	NM_013427.2	345	acG/acA	0	T:0	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS14140.1	1035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACGTTGA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3	T:0.001	T:0.0006	ENSP00000338967	T:0	4/13	.	.	.	.	.	.	.	.	rs151308614	4/13	common_in_exac	ENST00000337414	Transcript	.	T:0.0003	ENSG00000047648	676	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RHG06_HUMAN	ARHGAP6	HGNC	B4DN35_HUMAN	.	UPI00001AED54	SNV	ARHGAP6,synonymous_variant,p.%3D,ENST00000380718,;ARHGAP6,synonymous_variant,p.%3D,ENST00000380717,;ARHGAP6,synonymous_variant,p.%3D,ENST00000534860,;ARHGAP6,synonymous_variant,p.%3D,ENST00000337414,;ARHGAP6,synonymous_variant,p.%3D,ENST00000303025,;ARHGAP6,synonymous_variant,p.%3D,ENST00000380732,;ARHGAP6,synonymous_variant,p.%3D,ENST00000380736,;ARHGAP6,synonymous_variant,p.%3D,ENST00000413512,;ARHGAP6,synonymous_variant,p.%3D,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	1908	535	623	SUCCESS
DOCK11	139818	.	GRCh37	X	117788710	117788710	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764343134	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	92	227	0	ENST00000276202.7:c.4841C>T	p.Thr1614Ile	p.T1614I	ENST00000276202	NM_144658.3	1614	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS35373.1	4841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCACCCCAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317	.	.	ENSP00000276202	.	43/53	.	.	.	.	.	.	.	.	rs764343134	43/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0)	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,missense_variant,p.Thr1614Ile,ENST00000276204,;DOCK11,missense_variant,p.Thr1614Ile,ENST00000276202,;	4904	227	249	SUCCESS
IL13RA1	3597	.	GRCh37	X	117895250	117895250	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs778905149	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	302	72	315	1	ENST00000371666.3:c.826T>A	p.Tyr276Asn	p.Y276N	ENST00000371666	NM_001560.2	276	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS14573.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTACGTA	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF85,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000360730	.	6/11	.	.	.	.	.	.	.	.	rs778905149	6/11	PASS	ENST00000371666	Transcript	.	.	ENSG00000131724	5974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.62)	.	I13R1_HUMAN	IL13RA1	HGNC	.	.	UPI0000000CA3	SNV	IL13RA1,missense_variant,p.Tyr276Asn,ENST00000371642,;IL13RA1,missense_variant,p.Tyr276Asn,ENST00000371666,;IL13RA1,splice_region_variant,,ENST00000481868,;	893	316	374	SUCCESS
GRIA3	2892	.	GRCh37	X	122538727	122538727	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	386	92	422	0	ENST00000541091.1:c.1414A>G	p.Lys472Glu	p.K472E	ENST00000541091		472	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS14604.1	1462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAAAATA	NONE	.	.	Prints_domain:PR00177,Superfamily_domains:SSF53850,SMART_domains:SM00079,SMART_domains:SM00918,Pfam_domain:PF10613,Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.17)	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,missense_variant,p.Lys488Glu,ENST00000371256,;GRIA3,missense_variant,p.Lys488Glu,ENST00000542149,;GRIA3,missense_variant,p.Lys488Glu,ENST00000264357,;GRIA3,missense_variant,p.Lys472Glu,ENST00000541091,;GRIA3,missense_variant,p.Lys488Glu,ENST00000371251,;	1754	422	478	SUCCESS
ZNF449	203523	.	GRCh37	X	134494230	134494230	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	360	65	401	0	ENST00000339249.4:c.786G>A	p.Leu262=	p.L262=	ENST00000339249	NM_152695.5	262	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14649.1	786	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGCAAAA	NONE	.	.	hmmpanther:PTHR23226:SF4,hmmpanther:PTHR23226	.	.	ENSP00000339585	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000339249	Transcript	.	.	ENSG00000173275	21039	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN449_HUMAN	ZNF449	HGNC	Q7Z3P1_HUMAN	.	UPI000013F1DE	SNV	ZNF449,synonymous_variant,p.%3D,ENST00000339249,;	926	401	425	SUCCESS
RAB9A	9367	.	GRCh37	X	13727290	13727290	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	76	0	ENST00000464506.1:c.425G>A	p.Cys142Tyr	p.C142Y	ENST00000464506	NM_004251.4	142	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS14156.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGCAGGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF371,PROSITE_profiles:PS51419	.	.	ENSP00000420127	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000464506	Transcript	.	.	ENSG00000123595	9792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious(0)	.	RAB9A_HUMAN	RAB9A	HGNC	.	.	UPI0000001262	SNV	RAB9A,missense_variant,p.Cys142Tyr,ENST00000464506,;TRAPPC2,downstream_gene_variant,,ENST00000453655,;TRAPPC2,downstream_gene_variant,,ENST00000358231,;TRAPPC2,downstream_gene_variant,,ENST00000380579,;TRAPPC2,downstream_gene_variant,,ENST00000359680,;RAB9A,non_coding_transcript_exon_variant,,ENST00000243325,;	704	76	91	SUCCESS
GABRQ	55879	.	GRCh37	X	151806785	151806785	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	45	161	0	ENST00000370306.2:c.129C>T	p.Val43=	p.V43=	ENST00000370306	NM_018558.3	43	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14707.1	129	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCGTCCT	NONE	.	.	Prints_domain:PR01725,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	.	.	ENSP00000359329	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,synonymous_variant,p.%3D,ENST00000370306,;	149	161	213	SUCCESS
TREX2	11219	.	GRCh37	X	152710779	152710779	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782408064	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	50	109	0	ENST00000334497.2:c.239G>A	p.Arg80His	p.R80H	ENST00000334497		80	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS35437.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGGTGG	NONE	byFrequency	.	hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF13,Pfam_domain:PF00929,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000333441	.	13/13	.	.	.	.	.	.	.	.	rs782408064,COSM3424581,COSM3424580	13/13	PASS	ENST00000330912	Transcript	.	.	ENSG00000183479	12270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0.03)	0,1,1	TREX2_HUMAN	TREX2	HGNC	.	.	UPI000006F0D9	SNV	TREX2,missense_variant,p.Arg80His,ENST00000370232,;TREX2,missense_variant,p.Arg37His,ENST00000330912,;TREX2,missense_variant,p.Arg79His,ENST00000414588,;TREX2,missense_variant,p.Arg37His,ENST00000370231,;TREX2,missense_variant,p.Arg80His,ENST00000334497,;TREX2,missense_variant,p.Arg80His,ENST00000402951,;TREX2,missense_variant,p.Arg37His,ENST00000338525,;TREX2,missense_variant,p.Arg37His,ENST00000393862,;HAUS7,downstream_gene_variant,,ENST00000370211,;HAUS7,downstream_gene_variant,,ENST00000435662,;HAUS7,downstream_gene_variant,,ENST00000421080,;HAUS7,downstream_gene_variant,,ENST00000370212,;HAUS7,downstream_gene_variant,,ENST00000484394,;HAUS7,downstream_gene_variant,,ENST00000437046,;HAUS7,downstream_gene_variant,,ENST00000460898,;HAUS7,downstream_gene_variant,,ENST00000491286,;	1661	109	155	SUCCESS
ARHGAP4	393	.	GRCh37	X	153185069	153185069	+	intron_variant	Intron	SNP	G	G	T	rs781897914	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	23	123	0	ENST00000350060.5:c.682-332C>A		p.*228*	ENST00000350060	NM_001666.4	251		0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55540.1	753	RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGAGAAA	NONE	.	.	hmmpanther:PTHR14166:SF16,hmmpanther:PTHR14166	.	.	ENSP00000359045	.	6/23	.	.	.	.	.	.	.	.	rs781897914	6/23	PASS	ENST00000370028	Transcript	.	.	ENSG00000089820	674	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHG04_HUMAN	ARHGAP4	HGNC	Q6PJ34_HUMAN,C9JLA8_HUMAN,C9J5M2_HUMAN	.	UPI000019275E	SNV	ARHGAP4,synonymous_variant,p.%3D,ENST00000370028,;ARHGAP4,synonymous_variant,p.%3D,ENST00000418750,;ARHGAP4,intron_variant,,ENST00000537206,;ARHGAP4,intron_variant,,ENST00000350060,;ARHGAP4,intron_variant,,ENST00000393721,;ARHGAP4,intron_variant,,ENST00000488269,;ARHGAP4,intron_variant,,ENST00000422918,;ARHGAP4,intron_variant,,ENST00000370016,;ARHGAP4,intron_variant,,ENST00000461052,;ARHGAP4,downstream_gene_variant,,ENST00000442262,;ARHGAP4,downstream_gene_variant,,ENST00000422091,;ARHGAP4,downstream_gene_variant,,ENST00000470979,;ARHGAP4,intron_variant,,ENST00000494813,;ARHGAP4,intron_variant,,ENST00000494302,;ARHGAP4,intron_variant,,ENST00000470209,;ARHGAP4,intron_variant,,ENST00000420383,;ARHGAP4,intron_variant,,ENST00000404127,;ARHGAP4,downstream_gene_variant,,ENST00000460782,;	811	123	158	SUCCESS
ZBED1	9189	.	GRCh37	X	2407376	2407376	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199678782	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	75	291	0	ENST00000381218.3:c.1385C>T	p.Thr462Met	p.T462M	ENST00000381218		462	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14118.1	1385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGTCTCC	NONE	.	.	Superfamily_domains:SSF53098,hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF2	.	.	ENSP00000370621	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381223	Transcript	.	.	ENSG00000214717	447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	deleterious(0.04)	.	ZBED1_HUMAN	ZBED1	HGNC	C9JXP4_HUMAN	.	UPI0000073DE9	SNV	ZBED1,missense_variant,p.Thr462Met,ENST00000381223,;ZBED1,missense_variant,p.Thr462Met,ENST00000381222,;ZBED1,missense_variant,p.Thr462Met,ENST00000381218,;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000334651,;DHRSX,intron_variant,,ENST00000412516,;ZBED1,downstream_gene_variant,,ENST00000461691,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,upstream_gene_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	1589	291	340	SUCCESS
DCAF8L1	139425	.	GRCh37	X	27998998	27998998	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs779760110	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	521	19	386	0	ENST00000441525.1:c.454C>T	p.Arg152Ter	p.R152*	ENST00000441525	NM_001017930.1	152	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS35222.1	454	MUTECT|MUSE	.	AGATCGGGGCA	NONE	byFrequency	.	hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574	.	.	ENSP00000405222	.	1/1	.	.	.	.	.	.	.	.	rs779760110,COSM1249754	1/1	PASS	ENST00000441525	Transcript	.	.	ENSG00000226372	31810	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	DC8L1_HUMAN	DCAF8L1	HGNC	.	.	UPI000022DD1B	SNV	DCAF8L1,stop_gained,p.Arg152Ter,ENST00000441525,;	569	386	540	SUCCESS
ARSD	414	.	GRCh37	X	2835844	2835844	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	33	107	0	ENST00000381154.1:c.863+1G>A		p.X288_splice	ENST00000381154	NM_001669.3	288		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35196.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTACCTTTC	NONE	.	.	.	.	.	ENSP00000370546	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381154	Transcript	.	.	ENSG00000006756	717	.	.	HIGH	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARSD_HUMAN	ARSD	HGNC	.	.	UPI0000070902	SNV	ARSD,splice_donor_variant,,ENST00000381154,;ARSD,splice_donor_variant,,ENST00000217890,;ARSD,splice_donor_variant,,ENST00000481340,;ARSD,intron_variant,,ENST00000495294,;ARSD,downstream_gene_variant,,ENST00000494870,;ARSD,downstream_gene_variant,,ENST00000559324,;	.	107	130	SUCCESS
EFHC2	80258	.	GRCh37	X	44091923	44091923	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	61	98	0	ENST00000420999.1:c.1424G>A	p.Gly475Glu	p.G475E	ENST00000420999	NM_025184.3	475	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS55405.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCCTATA	NONE	.	.	PROSITE_profiles:PS51336,hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11,Pfam_domain:PF06565,SMART_domains:SM00676	.	.	ENSP00000404232	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000420999	Transcript	.	.	ENSG00000183690	26233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	EFHC2_HUMAN	EFHC2	HGNC	.	.	UPI00000717F2	SNV	EFHC2,missense_variant,p.Gly475Glu,ENST00000420999,;	1508	98	147	SUCCESS
IQSEC2	23096	.	GRCh37	X	53279675	53279675	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	42	152	0	ENST00000396435.3:c.2083G>A	p.Asp695Asn	p.D695N	ENST00000396435	NM_001111125.2	695	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS48130.1	2083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCTCCAC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF61	.	.	ENSP00000379712	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0.02)	.	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,missense_variant,p.Asp490Asn,ENST00000375365,;IQSEC2,missense_variant,p.Asp685Asn,ENST00000375368,;IQSEC2,missense_variant,p.Asp695Asn,ENST00000396435,;	2284	152	189	SUCCESS
NLGN4X	57502	.	GRCh37	X	5811323	5811323	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	515	297	686	0	ENST00000275857.6:c.1986T>C	p.Thr662=	p.T662=	ENST00000275857	NM_020742.2	662	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS14126.1	1986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGTTGT	NONE	.	.	.	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,synonymous_variant,p.%3D,ENST00000381092,;NLGN4X,synonymous_variant,p.%3D,ENST00000381095,;NLGN4X,synonymous_variant,p.%3D,ENST00000381093,;NLGN4X,synonymous_variant,p.%3D,ENST00000538097,;NLGN4X,synonymous_variant,p.%3D,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	2614	687	813	SUCCESS
MSN	4478	.	GRCh37	X	64957171	64957171	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748200741	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	246	43	248	0	ENST00000360270.5:c.1222C>T	p.Arg408Trp	p.R408W	ENST00000360270	NM_002444.2	408	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS14382.1	1222	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGGGAC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281:SF14,hmmpanther:PTHR23281,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305	.	.	ENSP00000353408	.	10/13	.	.	.	.	.	.	.	.	rs748200741	10/13	PASS	ENST00000360270	Transcript	.	.	ENSG00000147065	7373	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.195)	.	deleterious(0.01)	.	MOES_HUMAN	MSN	HGNC	.	.	UPI000013DA94	SNV	MSN,missense_variant,p.Arg408Trp,ENST00000360270,;	1394	248	289	SUCCESS
SLK	9748	.	GRCh37	10	105750545	105750545	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	104	0	ENST00000369755.3:c.263A>G	p.His88Arg	p.H88R	ENST00000369755	NM_014720.2	88	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS7553.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCACCCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000358770	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000369755	Transcript	.	.	ENSG00000065613	11088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	SLK_HUMAN	SLK	HGNC	.	.	UPI000004B6D3	SNV	SLK,missense_variant,p.His88Arg,ENST00000369755,;SLK,missense_variant,p.His88Arg,ENST00000335753,;	808	104	114	SUCCESS
DCDC1	341019	.	GRCh37	11	30900222	30900222	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	79	0	ENST00000444572.2:c.2366C>G	p.Ala789Gly	p.A789G	ENST00000444572		789	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	.	.	5261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGCATAA	NONE	.	.	.	.	.	ENSP00000472625	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	tolerated(0.38)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Ala1754Gly,ENST00000597505,;DCDC1,downstream_gene_variant,,ENST00000406071,;DCDC1,missense_variant,p.Ala789Gly,ENST00000444572,;DCDC1,3_prime_UTR_variant,,ENST00000303697,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	5261	79	77	SUCCESS
ATL3	25923	.	GRCh37	11	63396832	63396832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	91	239	0	ENST00000398868.3:c.1585G>T	p.Ala529Ser	p.A529S	ENST00000398868	NM_015459.3	529	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41663.1	1585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGCATCCC	NONE	.	.	hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32	.	.	ENSP00000381844	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000398868	Transcript	.	.	ENSG00000184743	24526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.82)	.	ATLA3_HUMAN	ATL3	HGNC	F5H6I7_HUMAN	.	UPI0000071A21	SNV	ATL3,missense_variant,p.Ala511Ser,ENST00000538786,;ATL3,missense_variant,p.Ala529Ser,ENST00000398868,;ATL3,missense_variant,p.Ala556Ser,ENST00000332645,;RP11-697H9.4,upstream_gene_variant,,ENST00000605170,;	1862	239	218	SUCCESS
DLG2	1740	.	GRCh37	11	83173062	83173062	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	373	45	479	0	ENST00000398309.2:c.2489T>C	p.Phe830Ser	p.F830S	ENST00000398309	NM_001364.3	830	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS44690.1	2804	MUTECT|MUSE|VARSCANS	.	CTCCAAATTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52540,PIRSF_domain:PIRSF001741,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PROSITE_profiles:PS50052	.	.	ENSP00000365272	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,missense_variant,p.Phe751Ser,ENST00000330014,;DLG2,missense_variant,p.Phe812Ser,ENST00000532653,;DLG2,missense_variant,p.Phe797Ser,ENST00000531015,;DLG2,missense_variant,p.Phe709Ser,ENST00000418306,;DLG2,missense_variant,p.Phe826Ser,ENST00000524982,;DLG2,missense_variant,p.Phe294Ser,ENST00000426717,;DLG2,missense_variant,p.Phe869Ser,ENST00000280241,;DLG2,missense_variant,p.Phe830Ser,ENST00000398309,;DLG2,missense_variant,p.Phe935Ser,ENST00000376104,;DLG2,missense_variant,p.Phe580Ser,ENST00000537455,;DLG2,missense_variant,p.Phe294Ser,ENST00000376106,;DLG2,missense_variant,p.Phe935Ser,ENST00000543673,;DLG2,missense_variant,p.Phe308Ser,ENST00000404783,;DLG2,downstream_gene_variant,,ENST00000457267,;DLG2,non_coding_transcript_exon_variant,,ENST00000529159,;AP003026.1,upstream_gene_variant,,ENST00000420284,;	3116	479	418	SUCCESS
FGF6	2251	.	GRCh37	12	4553334	4553334	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759669908	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	91	0	ENST00000228837.2:c.415G>A	p.Val139Ile	p.V139I	ENST00000228837	NM_020996.1	139	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8527.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAACGAAGA	BUFFER|p.F138F|c.414C>T|4	byFrequency	.	hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263,Prints_domain:PR00262	.	.	ENSP00000228837	.	2/3	.	.	.	.	.	.	.	.	rs759669908,COSM239873	2/3	PASS	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.14)	0,1	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,missense_variant,p.Val18Ile,ENST00000543077,;FGF6,missense_variant,p.Val139Ile,ENST00000228837,;	459	91	85	SUCCESS
H1FNT	0	.	GRCh37	12	48723755	48723755	+	synonymous_variant	Silent	SNP	G	G	C	rs752051629	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	40	0	ENST00000335017.1:c.681G>C	p.Pro227=	p.P227=	ENST00000335017	NM_181788.1	227	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS8762.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCGAGGTC	NONE	byFrequency	.	hmmpanther:PTHR11467:SF14,hmmpanther:PTHR11467	.	.	ENSP00000334805	.	1/1	.	.	.	.	.	.	.	.	rs752051629,COSM939814	1/1	PASS	ENST00000335017	Transcript	.	.	ENSG00000187166	24893	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	H1FNT_HUMAN	H1FNT	HGNC	.	.	UPI00001AA15C	SNV	H1FNT,synonymous_variant,p.%3D,ENST00000335017,;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	993	40	31	SUCCESS
GALNT6	11226	.	GRCh37	12	51773531	51773531	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745814073	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	22	0	ENST00000356317.3:c.35G>T	p.Arg12Leu	p.R12L	ENST00000356317	NM_007210.3	12	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS8813.1	35	MUTECT|MUSE	.	CCAGGCGCAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675	.	.	ENSP00000444171	.	2/11	.	.	.	.	.	.	.	.	rs745814073	2/11	PASS	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.063)	.	deleterious_low_confidence(0)	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,missense_variant,p.Arg12Leu,ENST00000604506,;GALNT6,missense_variant,p.Arg12Leu,ENST00000605617,;GALNT6,missense_variant,p.Arg12Leu,ENST00000356317,;GALNT6,missense_variant,p.Arg12Leu,ENST00000604381,;GALNT6,missense_variant,p.Arg12Leu,ENST00000604847,;GALNT6,missense_variant,p.Arg12Leu,ENST00000603188,;GALNT6,missense_variant,p.Arg12Leu,ENST00000603563,;GALNT6,missense_variant,p.Arg12Leu,ENST00000605055,;GALNT6,missense_variant,p.Arg12Leu,ENST00000543196,;GALNT6,missense_variant,p.Arg12Leu,ENST00000605138,;GALNT6,missense_variant,p.Arg12Leu,ENST00000604426,;GALNT6,downstream_gene_variant,,ENST00000603203,;GALNT6,downstream_gene_variant,,ENST00000605720,;GALNT6,downstream_gene_variant,,ENST00000605089,;GALNT6,downstream_gene_variant,,ENST00000603482,;GALNT6,downstream_gene_variant,,ENST00000605822,;GALNT6,downstream_gene_variant,,ENST00000605367,;GALNT6,missense_variant,p.Arg12Leu,ENST00000603641,;	241	22	15	SUCCESS
RDH16	8608	.	GRCh37	12	57351246	57351246	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs764609964	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	100	0	ENST00000398138.3:c.1A>G	p.Met1?	p.M1?	ENST00000398138	NM_003708.3	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS41797.1	1	RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGGCTT	NONE	.	.	hmmpanther:PTHR24316:SF295,hmmpanther:PTHR24316	.	.	ENSP00000381206	.	1/4	.	.	.	.	.	.	.	.	rs764609964	1/4	PASS	ENST00000398138	Transcript	.	.	ENSG00000139547	29674	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	RDH16_HUMAN	RDH16	HGNC	.	.	UPI000013D71C	SNV	RDH16,start_lost,p.Met1?,ENST00000398138,;RDH16,non_coding_transcript_exon_variant,,ENST00000360752,;	858	100	72	SUCCESS
LAMP1	3916	.	GRCh37	13	113973926	113973926	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	37	0	ENST00000332556.4:c.705C>T	p.Ser235=	p.S235=	ENST00000332556	NM_005561.3	235	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41909.1	705	RADIA|VARSCANS	.	GCCAGCATGGG	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF27,PROSITE_patterns:PS00310,Pfam_domain:PF01299,Prints_domain:PR00336	.	.	ENSP00000333298	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000332556	Transcript	.	.	ENSG00000185896	6499	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMP1_HUMAN	LAMP1	HGNC	B3KRY3_HUMAN	.	UPI0000072D40	SNV	LAMP1,synonymous_variant,p.%3D,ENST00000332556,;LAMP1,synonymous_variant,p.%3D,ENST00000397181,;GRTP1,downstream_gene_variant,,ENST00000375431,;LAMP1,upstream_gene_variant,,ENST00000471046,;LAMP1,non_coding_transcript_exon_variant,,ENST00000472564,;	899	37	31	SUCCESS
IGHV3-7	28452	.	GRCh37	14	106518833	106518833	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs113165346	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	93	329	0	ENST00000390598.2:c.21G>T	p.Trp7Cys	p.W7C	ENST00000390598		7	tgG/tgT	0	.	.	.	.	.	A	W/C	IG_V_gene	YES	.	21	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACCCAGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266	.	.	ENSP00000375007	.	1/2	.	.	.	.	.	.	.	.	rs113165346	1/2	PASS	ENST00000390598	Transcript	.	.	ENSG00000211938	5620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated_low_confidence(0.18)	.	.	IGHV3-7	HGNC	.	.	UPI0000115FF4	SNV	IGHV3-7,missense_variant,p.Trp7Cys,ENST00000390598,;	100	329	274	SUCCESS
MMP14	4323	.	GRCh37	14	23310816	23310816	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	33	0	ENST00000311852.6:c.225A>G	p.Gln75=	p.Q75=	ENST00000311852	NM_004995.3	75	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS9577.1	225	RADIA|VARSCANS	.	TTGCAAGTAAC	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000308208	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000311852	Transcript	.	.	ENSG00000157227	7160	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,synonymous_variant,p.%3D,ENST00000311852,;MMP14,synonymous_variant,p.%3D,ENST00000548761,;MMP14,downstream_gene_variant,,ENST00000547279,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,non_coding_transcript_exon_variant,,ENST00000547074,;MMP14,upstream_gene_variant,,ENST00000547596,;	486	33	35	SUCCESS
TRMT5	57570	.	GRCh37	14	61447877	61447877	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	29	0	ENST00000261249.6:c.-186C>T		p.*62*	ENST00000261249	NM_020810.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32092.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGAAGTA	NONE	.	.	.	.	.	ENSP00000261249	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000261249	Transcript	.	.	ENSG00000126814	23141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRM5_HUMAN	TRMT5	HGNC	.	.	UPI000016003D	SNV	TRMT5,5_prime_UTR_variant,,ENST00000261249,;TRMT5,5_prime_UTR_variant,,ENST00000553903,;SLC38A6,5_prime_UTR_variant,,ENST00000354886,;SLC38A6,upstream_gene_variant,,ENST00000451406,;SLC38A6,upstream_gene_variant,,ENST00000456840,;SLC38A6,upstream_gene_variant,,ENST00000267488,;TRMT5,upstream_gene_variant,,ENST00000555420,;SLC38A6,upstream_gene_variant,,ENST00000526105,;SLC38A6,upstream_gene_variant,,ENST00000533744,;RP11-193F5.1,intron_variant,,ENST00000553946,;SLC38A6,upstream_gene_variant,,ENST00000532148,;SLC38A6,upstream_gene_variant,,ENST00000554304,;SLC38A6,upstream_gene_variant,,ENST00000491344,;SLC38A6,upstream_gene_variant,,ENST00000525723,;SLC38A6,upstream_gene_variant,,ENST00000528350,;SLC38A6,upstream_gene_variant,,ENST00000529345,;SLC38A6,upstream_gene_variant,,ENST00000525585,;SLC38A6,upstream_gene_variant,,ENST00000527591,;SLC38A6,upstream_gene_variant,,ENST00000554072,;SLC38A6,upstream_gene_variant,,ENST00000524402,;	200	29	17	SUCCESS
GPR68	8111	.	GRCh37	14	91700443	91700443	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	17	0	ENST00000531499.2:c.952G>A	p.Glu318Lys	p.E318K	ENST00000531499		318	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9894.2	952	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCCCTGG	NONE	.	.	hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF5,Prints_domain:PR01564	.	.	ENSP00000434045	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000531499	Transcript	.	.	ENSG00000119714	4519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated(0.25)	.	OGR1_HUMAN	GPR68	HGNC	E9PNU7_HUMAN	.	UPI000005042A	SNV	GPR68,missense_variant,p.Glu318Lys,ENST00000535815,;GPR68,missense_variant,p.Glu318Lys,ENST00000531499,;GPR68,missense_variant,p.Glu318Lys,ENST00000529102,;GPR68,missense_variant,p.Glu328Lys,ENST00000238699,;GPR68,downstream_gene_variant,,ENST00000529300,;	1292	17	19	SUCCESS
DTWD1	56986	.	GRCh37	15	49935632	49935632	+	synonymous_variant	Silent	SNP	C	C	T	rs749020916	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	11	232	0	ENST00000251250.6:c.772C>T	p.Leu258=	p.L258=	ENST00000251250	NM_020234.5	258	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10132.1	772	MUTECT|MUSE	.	ACTTTCTGGTA	NONE	.	.	hmmpanther:PTHR15627:SF8,hmmpanther:PTHR15627,Pfam_domain:PF03942	.	.	ENSP00000251250	.	6/6	.	.	.	.	.	.	.	.	rs749020916	6/6	PASS	ENST00000251250	Transcript	.	.	ENSG00000104047	30926	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DTWD1_HUMAN	DTWD1	HGNC	H0YK73_HUMAN	.	UPI000006DA3D	SNV	DTWD1,synonymous_variant,p.%3D,ENST00000251250,;DTWD1,synonymous_variant,p.%3D,ENST00000403028,;DTWD1,synonymous_variant,p.%3D,ENST00000558653,;DTWD1,synonymous_variant,p.%3D,ENST00000415425,;DTWD1,3_prime_UTR_variant,,ENST00000557988,;	979	232	196	SUCCESS
MYO9A	4649	.	GRCh37	15	72119321	72119321	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765535109	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	53	0	ENST00000356056.5:c.7247G>A	p.Arg2416Gln	p.R2416Q	ENST00000356056	NM_006901.3	2416	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10239.1	7247	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCGCAAC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000348349	.	42/42	.	.	.	.	.	.	.	.	rs765535109	42/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	tolerated_low_confidence(0.06)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.Arg1266Gln,ENST00000561618,;MYO9A,missense_variant,p.Arg331Gln,ENST00000568042,;MYO9A,missense_variant,p.Arg2487Gln,ENST00000424560,;MYO9A,missense_variant,p.Arg2416Gln,ENST00000356056,;MYO9A,missense_variant,p.Arg2397Gln,ENST00000444904,;MYO9A,3_prime_UTR_variant,,ENST00000564571,;MYO9A,downstream_gene_variant,,ENST00000568481,;CTD-2524L6.3,downstream_gene_variant,,ENST00000562658,;CTD-2524L6.3,downstream_gene_variant,,ENST00000561834,;CTD-2524L6.3,downstream_gene_variant,,ENST00000563041,;MYO9A,downstream_gene_variant,,ENST00000564699,;	7720	53	53	SUCCESS
CRAMP1L	0	.	GRCh37	16	1706365	1706365	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371446549	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	39	0	ENST00000293925.5:c.1607G>A	p.Arg536Gln	p.R536Q	ENST00000293925	NM_020825.3	536	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10440.2	1607	MUTECT|MUSE|VARSCANS	.	CACCCGGGAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21677	.	A:0.0005	ENSP00000380559	.	10/21	.	.	.	.	.	.	.	.	rs371446549	10/21	PASS	ENST00000397412	Transcript	.	.	ENSG00000007545	14122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.65)	.	CRML_HUMAN	CRAMP1L	HGNC	B2RNX8_HUMAN	.	UPI000066D946	SNV	CRAMP1L,missense_variant,p.Arg533Gln,ENST00000436138,;CRAMP1L,missense_variant,p.Arg536Gln,ENST00000293925,;CRAMP1L,missense_variant,p.Arg536Gln,ENST00000397412,;CRAMP1L,intron_variant,,ENST00000262317,;LA16c-431H6.6,intron_variant,,ENST00000454337,;	1706	39	26	SUCCESS
PKD1	5310	.	GRCh37	16	2147400	2147400	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144593342	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	21	0	ENST00000262304.4:c.10325C>T	p.Ala3442Val	p.A3442V	ENST00000262304	NM_001009944.2	3442	gCg/gTg	0	A:0.0041	A:0.0038	.	A:0	.	A	A/V	protein_coding	YES	CCDS32369.1	10325	RADIA|MUSE	.	GGCCCGCCTGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877	A:0	A:0	ENSP00000262304	A:0	33/46	.	.	.	.	.	.	.	.	rs144593342,COSM1220707	33/46	PASS	ENST00000262304	Transcript	.	A:0.0010	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.004)	A:0	.	0,1	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Ala3442Val,ENST00000262304,;PKD1,missense_variant,p.Ala3441Val,ENST00000423118,;PKD1,downstream_gene_variant,,ENST00000567946,;RP11-304L19.1,downstream_gene_variant,,ENST00000570072,;RP11-304L19.3,upstream_gene_variant,,ENST00000565937,;RP11-304L19.1,downstream_gene_variant,,ENST00000563284,;PKD1,downstream_gene_variant,,ENST00000566784,;PKD1,downstream_gene_variant,,ENST00000570193,;PKD1,downstream_gene_variant,,ENST00000475889,;PKD1,downstream_gene_variant,,ENST00000566905,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,upstream_gene_variant,,ENST00000568796,;PKD1,downstream_gene_variant,,ENST00000415938,;PKD1,downstream_gene_variant,,ENST00000486339,;PKD1,downstream_gene_variant,,ENST00000496574,;PKD1,upstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000570253,;PKD1,downstream_gene_variant,,ENST00000483814,;PKD1,upstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000562297,;PKD1,downstream_gene_variant,,ENST00000483731,;PKD1,downstream_gene_variant,,ENST00000480227,;PKD1,upstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000469851,;PKD1,downstream_gene_variant,,ENST00000474088,;PKD1,downstream_gene_variant,,ENST00000471603,;PKD1,upstream_gene_variant,,ENST00000472659,;	10534	21	15	SUCCESS
MYO18A	399687	.	GRCh37	17	27414105	27414105	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	52	167	0	ENST00000527372.1:c.5561A>T	p.Lys1854Met	p.K1854M	ENST00000527372	NM_078471.3	1854	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS45642.1	5561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTTCTCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000437073	.	38/42	.	.	.	.	.	.	.	.	.	38/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Lys1854Met,ENST00000527372,;MYO18A,missense_variant,p.Lys1817Met,ENST00000533112,;MYO18A,missense_variant,p.Lys1854Met,ENST00000354329,;MYO18A,missense_variant,p.Lys1854Met,ENST00000531253,;TIAF1,5_prime_UTR_variant,,ENST00000408971,;MYO18A,non_coding_transcript_exon_variant,,ENST00000546105,;MYO18A,non_coding_transcript_exon_variant,,ENST00000529578,;MYO18A,non_coding_transcript_exon_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000531438,;MYO18A,non_coding_transcript_exon_variant,,ENST00000529889,;MYO18A,upstream_gene_variant,,ENST00000527312,;	5742	167	130	SUCCESS
MED24	9862	.	GRCh37	17	38179530	38179530	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755768525	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	108	0	ENST00000394128.2:c.2104C>T	p.Pro702Ser	p.P702S	ENST00000394128	NM_014815.3	702	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11359.1	2104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGCAGCA	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	20/26	.	.	.	.	.	.	.	.	rs755768525	20/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.326)	.	tolerated(0.42)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.Pro652Ser,ENST00000535071,;MED24,missense_variant,p.Pro721Ser,ENST00000501516,;MED24,missense_variant,p.Pro689Ser,ENST00000356271,;MED24,missense_variant,p.Pro702Ser,ENST00000394128,;MED24,missense_variant,p.Pro727Ser,ENST00000394126,;MED24,missense_variant,p.Pro689Ser,ENST00000394127,;MED24,upstream_gene_variant,,ENST00000422942,;MED24,downstream_gene_variant,,ENST00000580885,;SNORD124,downstream_gene_variant,,ENST00000459577,;MED24,upstream_gene_variant,,ENST00000470126,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,non_coding_transcript_exon_variant,,ENST00000492176,;MED24,non_coding_transcript_exon_variant,,ENST00000580720,;MED24,upstream_gene_variant,,ENST00000579364,;MED24,downstream_gene_variant,,ENST00000580921,;MED24,downstream_gene_variant,,ENST00000578901,;MED24,downstream_gene_variant,,ENST00000584782,;MED24,downstream_gene_variant,,ENST00000581058,;MED24,downstream_gene_variant,,ENST00000495586,;MED24,upstream_gene_variant,,ENST00000491466,;	2186	108	91	SUCCESS
MED24	9862	.	GRCh37	17	38182514	38182514	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	28	46	0	ENST00000394128.2:c.1880A>C	p.His627Pro	p.H627P	ENST00000394128	NM_014815.3	627	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS11359.1	1880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGTGGGCC	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	deleterious(0.01)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.His577Pro,ENST00000535071,;MED24,missense_variant,p.His646Pro,ENST00000501516,;MED24,missense_variant,p.His614Pro,ENST00000356271,;MED24,missense_variant,p.His627Pro,ENST00000394128,;MED24,missense_variant,p.His652Pro,ENST00000394126,;MED24,missense_variant,p.His568Pro,ENST00000580885,;MED24,missense_variant,p.His614Pro,ENST00000394127,;MED24,upstream_gene_variant,,ENST00000422942,;SNORD124,downstream_gene_variant,,ENST00000459577,;MED24,upstream_gene_variant,,ENST00000470126,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,3_prime_UTR_variant,,ENST00000581058,;MED24,non_coding_transcript_exon_variant,,ENST00000580921,;MED24,non_coding_transcript_exon_variant,,ENST00000580720,;MED24,downstream_gene_variant,,ENST00000584077,;MED24,upstream_gene_variant,,ENST00000492176,;MED24,downstream_gene_variant,,ENST00000578901,;MED24,downstream_gene_variant,,ENST00000584782,;MED24,downstream_gene_variant,,ENST00000495586,;MED24,upstream_gene_variant,,ENST00000491466,;	1962	47	53	SUCCESS
CCR10	2826	.	GRCh37	17	40831707	40831707	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1391271591	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	50	0	ENST00000332438.4:c.953G>A	p.Arg318His	p.R318H	ENST00000332438	NM_016602.2	318	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11435.1	953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF72,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657,Prints_domain:PR00237	.	.	ENSP00000332504	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332438	Transcript	.	.	ENSG00000184451	4474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CCR10_HUMAN	CCR10	HGNC	K7ER70_HUMAN,K7EPC9_HUMAN	.	UPI0000212EE9	SNV	CCR10,missense_variant,p.Arg96His,ENST00000591765,;CCR10,missense_variant,p.Arg318His,ENST00000332438,;PLEKHH3,upstream_gene_variant,,ENST00000412503,;PLEKHH3,upstream_gene_variant,,ENST00000587627,;PLEKHH3,upstream_gene_variant,,ENST00000591022,;CCR10,downstream_gene_variant,,ENST00000591568,;CNTNAP1,upstream_gene_variant,,ENST00000264638,;PLEKHH3,upstream_gene_variant,,ENST00000293349,;CTD-3193K9.3,downstream_gene_variant,,ENST00000592440,;CTD-3193K9.4,upstream_gene_variant,,ENST00000593139,;PLEKHH3,upstream_gene_variant,,ENST00000591544,;PLEKHH3,upstream_gene_variant,,ENST00000456950,;PLEKHH3,upstream_gene_variant,,ENST00000591196,;CNTNAP1,upstream_gene_variant,,ENST00000591662,;PLEKHH3,upstream_gene_variant,,ENST00000591490,;	973	50	49	SUCCESS
KIF2B	84643	.	GRCh37	17	51901222	51901222	+	synonymous_variant	Silent	SNP	C	C	T	rs1417694993	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	82	0	ENST00000268919.4:c.828C>T	p.Asn276=	p.N276=	ENST00000268919	NM_032559.4	276	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS32685.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACGAGTT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,synonymous_variant,p.%3D,ENST00000268919,;	984	82	100	SUCCESS
MTMR4	9110	.	GRCh37	17	56586080	56586080	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753802031	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	107	0	ENST00000323456.5:c.416T>C	p.Leu139Pro	p.L139P	ENST00000323456	NM_004687.4	139	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11608.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCAGCCCC	NONE	.	.	hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602	.	.	ENSP00000325285	.	6/19	.	.	.	.	.	.	.	.	rs753802031	6/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.04)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Leu153Pro,ENST00000583656,;MTMR4,missense_variant,p.Leu139Pro,ENST00000323456,;MTMR4,missense_variant,p.Leu139Pro,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583243,;MTMR4,downstream_gene_variant,,ENST00000579921,;MTMR4,non_coding_transcript_exon_variant,,ENST00000583966,;MTMR4,non_coding_transcript_exon_variant,,ENST00000580983,;MTMR4,intron_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000582390,;	541	107	81	SUCCESS
ENGASE	64772	.	GRCh37	17	77075681	77075681	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	113	0	ENST00000579016.1:c.527G>C	p.Trp176Ser	p.W176S	ENST00000579016	NM_001042573.2	176	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS42394.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGGACCA	NONE	.	.	Pfam_domain:PF03644,hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.Trp176Ser,ENST00000579016,;ENGASE,missense_variant,p.Trp135Ser,ENST00000311595,;ENGASE,intron_variant,,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,intron_variant,,ENST00000578419,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,upstream_gene_variant,,ENST00000583041,;ENGASE,upstream_gene_variant,,ENST00000577783,;ENGASE,upstream_gene_variant,,ENST00000300682,;ENGASE,upstream_gene_variant,,ENST00000583646,;	527	113	106	SUCCESS
SLC38A10	124565	.	GRCh37	17	79234066	79234066	+	synonymous_variant	Silent	SNP	C	C	T	rs1567931578	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	60	0	ENST00000374759.3:c.1260G>A	p.Leu420=	p.L420=	ENST00000374759	NM_001037984.1	420	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42397.1	1260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCAAACC	NONE	.	.	.	.	.	ENSP00000363891	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000374759	Transcript	.	.	ENSG00000157637	28237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S38AA_HUMAN	SLC38A10	HGNC	F5H3T4_HUMAN	.	UPI000066DA6A	SNV	SLC38A10,synonymous_variant,p.%3D,ENST00000374759,;SLC38A10,synonymous_variant,p.%3D,ENST00000288439,;SLC38A10,downstream_gene_variant,,ENST00000546352,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000542075,;	1644	60	44	SUCCESS
MC5R	4161	.	GRCh37	18	13826628	13826628	+	synonymous_variant	Silent	SNP	C	C	T	rs142287236	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	37	317	0	ENST00000324750.3:c.864C>T	p.Ser288=	p.S288=	ENST00000324750	NM_005913.2	288	tcC/tcT	0	T:0.002	T:0.0015	.	T:0.0014	.	T	S	protein_coding	YES	CCDS11868.1	864	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCGTGAT	SITE|p.S288S|c.864C>T|3	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	T:0	T:0	ENSP00000318077	T:0	1/1	.	.	.	.	.	.	.	.	rs142287236,COSM1494060	1/1	PASS	ENST00000324750	Transcript	.	T:0.0006	ENSG00000176136	6933	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	T:0	.	0,1	MC5R_HUMAN	MC5R	HGNC	K7ER30_HUMAN	.	UPI0000050405	SNV	MC5R,synonymous_variant,p.%3D,ENST00000324750,;MC5R,downstream_gene_variant,,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	1086	317	271	SUCCESS
MEP1B	4225	.	GRCh37	18	29790544	29790544	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1334949015	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	78	0	ENST00000269202.6:c.1000C>A	p.Pro334Thr	p.P334T	ENST00000269202	NM_005925.2	334	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS45846.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCCTAAA	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR10127:SF312,hmmpanther:PTHR10127,PROSITE_patterns:PS00740,Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000269202	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	SNV	MEP1B,missense_variant,p.Pro334Thr,ENST00000269202,;MEP1B,missense_variant,p.Pro334Thr,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;	1047	78	55	SUCCESS
SLC1A6	6511	.	GRCh37	19	15067448	15067448	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	96	0	ENST00000221742.3:c.1009G>A	p.Gly337Ser	p.G337S	ENST00000221742	NM_005071.2	337	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12321.1	1009	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCCCCCA	BUFFER|p.V334I|c.1000G>A|3	.	.	hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	.	.	ENSP00000221742	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.24)	.	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,missense_variant,p.Gly337Ser,ENST00000221742,;SLC1A6,missense_variant,p.Gly273Ser,ENST00000430939,;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000544886,;SLC1A6,downstream_gene_variant,,ENST00000598504,;	1017	96	77	SUCCESS
TEX101	83639	.	GRCh37	19	43920080	43920080	+	synonymous_variant	Silent	SNP	C	C	T	rs149972012	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	61	175	0	ENST00000598265.1:c.9C>T	p.Thr3=	p.T3=	ENST00000598265	NM_001130011.1	3	acC/acT	0	T:0.0011	.	.	.	.	T	T	protein_coding	YES	CCDS12619.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACCCCTCG	NONE	byCluster	.	hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF3	.	T:0	ENSP00000472308	.	4/8	.	.	.	.	.	.	.	.	rs149972012	4/8	PASS	ENST00000602198	Transcript	.	.	ENSG00000131126	30722	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TX101_HUMAN	TEX101	HGNC	.	.	UPI000013CDD3	SNV	TEX101,synonymous_variant,p.%3D,ENST00000602198,;TEX101,synonymous_variant,p.%3D,ENST00000253435,;TEX101,synonymous_variant,p.%3D,ENST00000598265,;TEX101,non_coding_transcript_exon_variant,,ENST00000601707,;	505	175	143	SUCCESS
NLRP5	126206	.	GRCh37	19	56565030	56565030	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778328871	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	17	116	0	ENST00000390649.3:c.3155C>T	p.Ala1052Val	p.A1052V	ENST00000390649	NM_153447.4	1052	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12938.1	3155	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGCGTGCT	CODON|p.A1052T|c.3154G>A|3	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000375063	.	13/15	.	.	.	.	.	.	.	.	rs778328871,COSM3835872	13/15	PASS	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.078)	.	tolerated(0.11)	0,1	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,missense_variant,p.Ala1052Val,ENST00000390649,;	3155	116	129	SUCCESS
TRAPPC5	126003	.	GRCh37	19	7747540	7747540	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762880432	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	26	0	ENST00000317378.5:c.401A>G	p.Asn134Ser	p.N134S	ENST00000317378	NM_174894.2	134	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42490.1	401	MUTECT|MUSE|VARSCANS	.	GGAGAACAGCA	NONE	.	.	hmmpanther:PTHR20902,hmmpanther:PTHR20902:SF0,Gene3D:3.30.1380.20,Pfam_domain:PF04051,PIRSF_domain:PIRSF017479,Superfamily_domains:SSF111126	.	.	ENSP00000316990	.	2/2	.	.	.	.	.	.	.	.	rs762880432	2/2	PASS	ENST00000317378	Transcript	.	.	ENSG00000181029	23067	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.06)	.	TPPC5_HUMAN	TRAPPC5	HGNC	.	.	UPI0000074724	SNV	TRAPPC5,missense_variant,p.Asn67Ser,ENST00000595985,;TRAPPC5,missense_variant,p.Asn134Ser,ENST00000426877,;TRAPPC5,missense_variant,p.Asn134Ser,ENST00000317378,;TRAPPC5,missense_variant,p.Asn134Ser,ENST00000596148,;CTD-3214H19.16,3_prime_UTR_variant,,ENST00000597959,;C19orf59,downstream_gene_variant,,ENST00000333598,;C19orf59,downstream_gene_variant,,ENST00000597445,;C19orf59,downstream_gene_variant,,ENST00000598851,;	588	26	33	SUCCESS
AKNAD1	254268	.	GRCh37	1	109394791	109394791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	255	12	377	0	ENST00000370001.3:c.496C>T	p.Pro166Ser	p.P166S	ENST00000370001	NM_152763.4	166	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS791.2	496	MUTECT|MUSE	.	TTCTGGGGTTT	NONE	.	.	hmmpanther:PTHR21510:SF14,hmmpanther:PTHR21510	.	.	ENSP00000359018	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000370001	Transcript	.	.	ENSG00000162641	28398	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.43)	.	AKND1_HUMAN	AKNAD1	HGNC	.	.	UPI00004700A0	SNV	AKNAD1,missense_variant,p.Pro166Ser,ENST00000369995,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000369994,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000370001,;AKNAD1,intron_variant,,ENST00000357393,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000472781,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000461774,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000474186,;	765	377	268	SUCCESS
PDE4DIP	9659	.	GRCh37	1	145076037	145076037	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	19	0	ENST00000369345.4:c.-175A>G		p.*59*	ENST00000369345				0	.	.	.	.	.	C	.	protein_coding	.	.	.	RADIA|SOMATICSNIPER	.	GTCCTTCTCCC	NONE	.	.	.	.	.	ENSP00000358351	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000369345	Transcript	.	.	ENSG00000178104	15580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PDE4DIP	HGNC	Q5TB27_HUMAN	.	UPI0000237213	SNV	PDE4DIP,5_prime_UTR_variant,,ENST00000369345,;PDE4DIP,5_prime_UTR_variant,,ENST00000369348,;PDE4DIP,upstream_gene_variant,,ENST00000369359,;PDE4DIP,upstream_gene_variant,,ENST00000530740,;PDE4DIP,upstream_gene_variant,,ENST00000528552,;PDE4DIP,upstream_gene_variant,,ENST00000533396,;PDE4DIP,upstream_gene_variant,,ENST00000527063,;PDE4DIP,upstream_gene_variant,,ENST00000526359,;PDE4DIP,upstream_gene_variant,,ENST00000528661,;	41	19	18	SUCCESS
TDRKH	11022	.	GRCh37	1	151751633	151751633	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	376	64	345	0	ENST00000368822.1:c.507A>G	p.Leu169=	p.L169=	ENST00000368822		169	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS41394.1	507	RADIA|MUTECT|MUSE|VARSCANS	.	GATAGTAGTAA	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR22948:SF13,hmmpanther:PTHR22948,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000357812	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000368822	Transcript	.	.	ENSG00000182134	11713	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDRKH_HUMAN	TDRKH	HGNC	Q9NYV3_HUMAN,E9PKN8_HUMAN,B4DJ68_HUMAN	.	UPI0000204267	SNV	TDRKH,synonymous_variant,p.%3D,ENST00000368827,;TDRKH,synonymous_variant,p.%3D,ENST00000368823,;TDRKH,synonymous_variant,p.%3D,ENST00000368824,;TDRKH,synonymous_variant,p.%3D,ENST00000458431,;TDRKH,synonymous_variant,p.%3D,ENST00000368822,;TDRKH,synonymous_variant,p.%3D,ENST00000368825,;TDRKH,5_prime_UTR_variant,,ENST00000440583,;TDRKH,downstream_gene_variant,,ENST00000526378,;TDRKH,non_coding_transcript_exon_variant,,ENST00000484421,;TDRKH,missense_variant,p.Tyr136Cys,ENST00000525790,;TDRKH,missense_variant,p.Tyr136Cys,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000530202,;TDRKH,downstream_gene_variant,,ENST00000463553,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000486986,;	1141	345	440	SUCCESS
ADAR	103	.	GRCh37	1	154560696	154560696	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751760623	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	8	110	0	ENST00000368474.4:c.2924C>T	p.Ser975Phe	p.S975F	ENST00000368474	NM_001111.4	975	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS1071.1	2924	MUTECT|MUSE	.	TGCAGGACTTG	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000357459	.	11/15	.	.	.	.	.	.	.	.	rs751760623	11/15	PASS	ENST00000368474	Transcript	.	.	ENSG00000160710	225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	DSRAD_HUMAN	ADAR	HGNC	.	.	UPI000045626B	SNV	ADAR,missense_variant,p.Ser1018Phe,ENST00000292205,;ADAR,missense_variant,p.Ser944Phe,ENST00000529168,;ADAR,missense_variant,p.Ser680Phe,ENST00000368471,;ADAR,missense_variant,p.Ser975Phe,ENST00000368474,;ADAR,non_coding_transcript_exon_variant,,ENST00000530954,;ADAR,non_coding_transcript_exon_variant,,ENST00000534279,;ADAR,upstream_gene_variant,,ENST00000492630,;	3124	110	139	SUCCESS
KLHDC7A	127707	.	GRCh37	1	18809370	18809370	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745970080	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	50	0	ENST00000400664.1:c.1895G>A	p.Arg632His	p.R632H	ENST00000400664	NM_152375.2	632	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS185.2	1895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCGTGCCA	BUFFER|p.E635K|c.1903G>A|6	.	.	hmmpanther:PTHR24412:SF144,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000383505	.	1/1	.	.	.	.	.	.	.	.	rs745970080	1/1	PASS	ENST00000400664	Transcript	.	.	ENSG00000179023	26791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	KLD7A_HUMAN	KLHDC7A	HGNC	A4FU39_HUMAN	.	UPI0000E0501F	SNV	KLHDC7A,missense_variant,p.Arg632His,ENST00000400664,;	1947	50	34	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232650005	232650005	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	44	58	0	ENST00000262861.4:c.1081G>T	p.Ala361Ser	p.A361S	ENST00000262861	NM_020808.3	361	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41474.1	1081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCCCCAG	NONE	.	.	hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Ala361Ser,ENST00000366630,;SIPA1L2,missense_variant,p.Ala361Ser,ENST00000262861,;	1440	58	66	SUCCESS
OR2W5	0	.	GRCh37	1	247654704	247654704	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	105	0	ENST00000530852.2:n.335T>A		p.*112*	ENST00000530852				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE|VARSCANS	.	GACCATCACCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530852	Transcript	.	.	ENSG00000203664	15424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OR2W5	HGNC	.	.	.	SNV	OR2W5,non_coding_transcript_exon_variant,,ENST00000522351,;OR2W5,non_coding_transcript_exon_variant,,ENST00000530852,;OR2W5,non_coding_transcript_exon_variant,,ENST00000366492,;	335	105	137	SUCCESS
SH3BP5L	80851	.	GRCh37	1	249106273	249106273	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	55	0	ENST00000366472.5:c.1008G>C	p.Leu336=	p.L336=	ENST00000366472	NM_030645.1	336	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS31126.1	1008	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19423	.	.	ENSP00000355428	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000366472	Transcript	.	.	ENSG00000175137	29360	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	3BP5L_HUMAN	SH3BP5L	HGNC	Q96MW4_HUMAN,Q96ET3_HUMAN	.	UPI000003F53A	SNV	SH3BP5L,synonymous_variant,p.%3D,ENST00000411742,;SH3BP5L,synonymous_variant,p.%3D,ENST00000366472,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000475978,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000484202,;SH3BP5L,downstream_gene_variant,,ENST00000494837,;	2238	55	72	SUCCESS
ZNF362	149076	.	GRCh37	1	33741722	33741722	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755462638	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	54	0	ENST00000373428.5:c.60C>G	p.Asn20Lys	p.N20K	ENST00000373428		20	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS377.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAACAACCC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF454	.	.	ENSP00000446335	.	3/9	.	.	.	.	.	.	.	.	rs755462638	3/9	PASS	ENST00000539719	Transcript	.	.	ENSG00000160094	18079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZN362_HUMAN	ZNF362	HGNC	F5H055_HUMAN	.	UPI000013E046	SNV	ZNF362,missense_variant,p.Asn20Lys,ENST00000373428,;ZNF362,missense_variant,p.Asn7Lys,ENST00000483388,;ZNF362,missense_variant,p.Asn20Lys,ENST00000539719,;ZNF362,downstream_gene_variant,,ENST00000490959,;ZNF362,upstream_gene_variant,,ENST00000477934,;	230	54	30	SUCCESS
KANK4	163782	.	GRCh37	1	62739084	62739084	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	19	207	0	ENST00000371153.4:c.1692G>T	p.Val564=	p.V564=	ENST00000371153	NM_181712.4	564	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS620.1	1692	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCACATA	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20	.	.	ENSP00000360195	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000371153	Transcript	.	.	ENSG00000132854	27263	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KANK4_HUMAN	KANK4	HGNC	B1ALP6_HUMAN,B1ALP5_HUMAN	.	UPI000022AE73	SNV	KANK4,synonymous_variant,p.%3D,ENST00000371153,;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;	2071	208	131	SUCCESS
DOCK7	85440	.	GRCh37	1	62995054	62995054	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	13	139	0	ENST00000340370.5:c.3582A>C	p.Ser1194=	p.S1194=	ENST00000340370	NM_033407.3	1194	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30734.1	3582	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCTGAGTC	NONE	.	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	29/49	.	.	.	.	.	.	.	.	.	29/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,synonymous_variant,p.%3D,ENST00000251157,;DOCK7,synonymous_variant,p.%3D,ENST00000340370,;DOCK7,synonymous_variant,p.%3D,ENST00000454575,;RP11-293K19.1,upstream_gene_variant,,ENST00000604867,;	3600	139	113	SUCCESS
JAK1	3716	.	GRCh37	1	65307245	65307245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	153	0	ENST00000342505.4:c.2443C>T	p.Pro815Ser	p.P815S	ENST00000342505	NM_002227.2	815	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41346.1	2443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGTGTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.03)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Pro815Ser,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000481702,;JAK1,downstream_gene_variant,,ENST00000471473,;	2692	154	128	SUCCESS
SPTLC3	55304	.	GRCh37	20	13071736	13071736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	185	0	ENST00000399002.2:c.613T>A	p.Leu205Met	p.L205M	ENST00000399002	NM_018327.2	205	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS13115.2	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTTGGAT	NONE	.	.	hmmpanther:PTHR13693:SF56,hmmpanther:PTHR13693,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000381968	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000399002	Transcript	.	.	ENSG00000172296	16253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	tolerated(0.13)	.	SPTC3_HUMAN	SPTLC3	HGNC	Q8N2H1_HUMAN,B1AKS2_HUMAN	.	UPI0000D6BFB5	SNV	SPTLC3,missense_variant,p.Leu205Met,ENST00000399002,;SPTLC3,missense_variant,p.Leu205Met,ENST00000378194,;	887	185	144	SUCCESS
OPRL1	4987	.	GRCh37	20	62729930	62729930	+	synonymous_variant	Silent	SNP	C	C	T	rs764583670	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	83	0	ENST00000336866.2:c.891C>T	p.Ala297=	p.A297=	ENST00000336866	NM_182647.2	297	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13556.1	891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCGTGGC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF11,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00547	.	.	ENSP00000336764	.	6/6	.	.	.	.	.	.	.	.	rs764583670	6/6	PASS	ENST00000349451	Transcript	.	.	ENSG00000125510	8155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPRX_HUMAN	OPRL1	HGNC	.	.	UPI0000001C6D	SNV	OPRL1,synonymous_variant,p.%3D,ENST00000336866,;OPRL1,synonymous_variant,p.%3D,ENST00000355631,;OPRL1,synonymous_variant,p.%3D,ENST00000349451,;	1303	83	78	SUCCESS
CXADR	1525	.	GRCh37	21	18933790	18933790	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768582795	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	10	217	0	ENST00000284878.7:c.829A>G	p.Ile277Val	p.I277V	ENST00000284878	NM_001338.4	277	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33519.1	829	MUTECT|MUSE	.	ACGATATCAGG	NONE	.	.	hmmpanther:PTHR12231:SF9,hmmpanther:PTHR12231	.	.	ENSP00000284878	.	6/7	.	.	.	.	.	.	.	.	rs768582795	6/7	PASS	ENST00000284878	Transcript	.	.	ENSG00000154639	2559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.78)	.	deleterious(0.01)	.	CXAR_HUMAN	CXADR	HGNC	.	.	UPI000004F892	SNV	CXADR,missense_variant,p.Ile236Val,ENST00000306618,;CXADR,missense_variant,p.Ile277Val,ENST00000400169,;CXADR,missense_variant,p.Ile277Val,ENST00000284878,;CXADR,intron_variant,,ENST00000356275,;CXADR,intron_variant,,ENST00000400166,;CXADR,intron_variant,,ENST00000400165,;	1577	217	168	SUCCESS
KRTAP26-1	388818	.	GRCh37	21	31692292	31692292	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	138	0	ENST00000360542.3:c.62A>C	p.His21Pro	p.H21P	ENST00000360542	NM_203405.1	21	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS13588.1	62	RADIA|MUTECT|MUSE|VARSCANS	.	GAATATGGCGG	NONE	.	.	hmmpanther:PTHR19051:SF11,hmmpanther:PTHR19051,Pfam_domain:PF05287	.	.	ENSP00000353742	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360542	Transcript	.	.	ENSG00000197683	33760	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.477)	.	deleterious(0.02)	.	KR261_HUMAN	KRTAP26-1	HGNC	.	.	UPI00001CE052	SNV	KRTAP26-1,missense_variant,p.His21Pro,ENST00000360542,;	316	138	101	SUCCESS
SEZ6L	23544	.	GRCh37	22	26771552	26771552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	95	0	ENST00000248933.6:c.2839G>T	p.Ala947Ser	p.A947S	ENST00000248933		947	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS13833.1	2839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81	.	.	ENSP00000248933	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.17)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Ala936Ser,ENST00000529632,;SEZ6L,missense_variant,p.Ala947Ser,ENST00000248933,;SEZ6L,missense_variant,p.Ala872Ser,ENST00000360929,;SEZ6L,missense_variant,p.Ala643Ser,ENST00000403121,;SEZ6L,missense_variant,p.Ala946Ser,ENST00000404234,;SEZ6L,missense_variant,p.Ala871Ser,ENST00000343706,;SEZ6L,missense_variant,p.Ala719Ser,ENST00000402979,;SEZ6L,intron_variant,,ENST00000411842,;SEZ6L,non_coding_transcript_exon_variant,,ENST00000494013,;	2934	95	59	SUCCESS
HMGXB4	10042	.	GRCh37	22	35661108	35661108	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	129	0	ENST00000216106.5:c.727A>G	p.Ser243Gly	p.S243G	ENST00000216106	NM_001003681.2	243	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS33641.1	727	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGAGCTTT	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169	.	.	ENSP00000216106	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000216106	Transcript	.	.	ENSG00000100281	5003	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.12)	.	HMGX4_HUMAN	HMGXB4	HGNC	Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN	.	UPI00003765B4	SNV	HMGXB4,missense_variant,p.Ser134Gly,ENST00000444518,;HMGXB4,missense_variant,p.Ser134Gly,ENST00000455359,;HMGXB4,missense_variant,p.Ser243Gly,ENST00000216106,;HMGXB4,missense_variant,p.Ser134Gly,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000464480,;HMGXB4,downstream_gene_variant,,ENST00000498325,;	855	129	115	SUCCESS
FIGN	55137	.	GRCh37	2	164467698	164467698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	43	163	0	ENST00000333129.3:c.644A>G	p.His215Arg	p.H215R	ENST00000333129	NM_018086.2	215	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2221.2	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTATGCAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	.	.	ENSP00000333836	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333129	Transcript	.	.	ENSG00000182263	13285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.14)	.	FIGN_HUMAN	FIGN	HGNC	.	.	UPI000022BD13	SNV	FIGN,missense_variant,p.His215Arg,ENST00000333129,;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	959	163	153	SUCCESS
MYO3B	140469	.	GRCh37	2	171034778	171034778	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	307	27	412	0	ENST00000408978.4:c.-20A>G		p.*7*	ENST00000408978	NM_138995.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42773.1	.	MUTECT|MUSE|VARSCANS	.	GCCGGATTCAG	NONE	.	.	.	.	.	ENSP00000386213	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,5_prime_UTR_variant,,ENST00000408978,;MYO3B,5_prime_UTR_variant,,ENST00000409044,;MYO3B,upstream_gene_variant,,ENST00000484338,;MYO3B,upstream_gene_variant,,ENST00000334231,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,5_prime_UTR_variant,,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	124	412	334	SUCCESS
HTR2B	3357	.	GRCh37	2	231973880	231973880	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770427725	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	235	0	ENST00000258400.3:c.797C>T	p.Thr266Ile	p.T266I	ENST00000258400	NM_000867.4	266	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2483.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTGTAGAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF31,Pfam_domain:PF00001	.	.	ENSP00000258400	.	4/4	.	.	.	.	.	.	.	.	rs770427725	4/4	PASS	ENST00000258400	Transcript	.	.	ENSG00000135914	5294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	5HT2B_HUMAN	HTR2B	HGNC	B3VRD5_HUMAN,B3VRD0_HUMAN,B3VRC5_HUMAN	.	UPI0000001C05	SNV	HTR2B,missense_variant,p.Thr266Ile,ENST00000258400,;PSMD1,intron_variant,,ENST00000409643,;PSMD1,intron_variant,,ENST00000373635,;PSMD1,intron_variant,,ENST00000447633,;PSMD1,intron_variant,,ENST00000308696,;PSMD1,downstream_gene_variant,,ENST00000488354,;PSMD1,intron_variant,,ENST00000431051,;	1310	235	140	SUCCESS
ASXL2	55252	.	GRCh37	2	25965337	25965337	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	7	160	0	ENST00000435504.4:c.3869G>C	p.Ser1290Thr	p.S1290T	ENST00000435504		1290	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	.	3869	MUTECT|MUSE	.	TAGAACTGAAA	NONE	.	.	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.24)	.	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Ser773Thr,ENST00000272341,;ASXL2,missense_variant,p.Ser1262Thr,ENST00000336112,;ASXL2,missense_variant,p.Ser773Thr,ENST00000404843,;ASXL2,missense_variant,p.Ser1290Thr,ENST00000435504,;	4163	160	117	SUCCESS
SLC30A6	55676	.	GRCh37	2	32399138	32399138	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	96	343	0	ENST00000282587.5:c.97A>G	p.Lys33Glu	p.K33E	ENST00000282587	NM_017964.3	33	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS54341.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAAGATA	NONE	.	.	hmmpanther:PTHR11562:SF27,hmmpanther:PTHR11562	.	.	ENSP00000368648	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000379343	Transcript	.	.	ENSG00000152683	19305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.09)	.	ZNT6_HUMAN	SLC30A6	HGNC	B5MCR8_HUMAN,B3KU87_HUMAN	.	UPI0000D61182	SNV	SLC30A6,missense_variant,p.Lys4Glu,ENST00000538303,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000379343,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000435660,;SLC30A6,missense_variant,p.Lys4Glu,ENST00000440718,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000282587,;SLC30A6,5_prime_UTR_variant,,ENST00000357055,;SLC30A6,intron_variant,,ENST00000406369,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000457724,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000454324,;SLC30A6,intron_variant,,ENST00000449777,;	134	343	258	SUCCESS
SERTAD2	9792	.	GRCh37	2	64863856	64863856	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	20	221	0	ENST00000313349.3:c.150C>T	p.Asn50=	p.N50=	ENST00000313349	NM_014755.2	50	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS33210.1	150	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGTTATA	NONE	.	.	PROSITE_profiles:PS51053,hmmpanther:PTHR16277,hmmpanther:PTHR16277:SF10,Pfam_domain:PF06031	.	.	ENSP00000326933	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313349	Transcript	.	.	ENSG00000179833	30784	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRTD2_HUMAN	SERTAD2	HGNC	.	.	UPI000004EC6D	SNV	SERTAD2,synonymous_variant,p.%3D,ENST00000313349,;SERTAD2,non_coding_transcript_exon_variant,,ENST00000476805,;	448	221	189	SUCCESS
IQCB1	9657	.	GRCh37	3	121527778	121527778	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	93	220	0	ENST00000310864.6:c.472G>T	p.Glu158Ter	p.E158*	ENST00000310864	NM_001023570.2	158	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS33837.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCAACAT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR15673,hmmpanther:PTHR15673:SF1	.	.	ENSP00000311505	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000310864	Transcript	.	.	ENSG00000173226	28949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQCB1_HUMAN	IQCB1	HGNC	C9JXD7_HUMAN,C9JVC4_HUMAN,C9J6Z7_HUMAN	.	UPI0000139154	SNV	IQCB1,stop_gained,p.Glu158Ter,ENST00000349820,;IQCB1,stop_gained,p.Glu158Ter,ENST00000310864,;IQCB1,5_prime_UTR_variant,,ENST00000460108,;IQCB1,intron_variant,,ENST00000498104,;IQCB1,stop_gained,p.Glu158Ter,ENST00000393650,;	687	220	247	SUCCESS
HSPBAP1	79663	.	GRCh37	3	122512567	122512567	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	33	0	ENST00000306103.2:c.-40C>T		p.*14*	ENST00000306103	NM_024610.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3017.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAGCGGAG	NONE	.	.	.	.	.	ENSP00000302562	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000306103	Transcript	.	.	ENSG00000169087	16389	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBAP1_HUMAN	HSPBAP1	HGNC	Q9H641_HUMAN	.	UPI00000715E9	SNV	HSPBAP1,5_prime_UTR_variant,,ENST00000383659,;HSPBAP1,5_prime_UTR_variant,,ENST00000306103,;DIRC2,upstream_gene_variant,,ENST00000261038,;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000467643,;HSPBAP1,upstream_gene_variant,,ENST00000465044,;HSPBAP1,upstream_gene_variant,,ENST00000478601,;DIRC2,upstream_gene_variant,,ENST00000477647,;	105	33	38	SUCCESS
COL6A5	256076	.	GRCh37	3	130174346	130174346	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	30	246	0	ENST00000312481.7:c.6626T>C	p.Ile2209Thr	p.I2209T	ENST00000312481		2209	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	.	6626	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATTGGCC	BUFFER|p.E251*|c.751G>T|3,BUFFER|p.E2212*|c.6634G>T|3	.	.	.	.	.	ENSP00000265379	.	37/42	.	.	.	.	.	.	.	.	.	37/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.11)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Ile2209Thr,ENST00000432398,;COL6A5,missense_variant,p.Ile461Thr,ENST00000512836,;COL6A5,missense_variant,p.Ile44Thr,ENST00000512482,;COL6A5,missense_variant,p.Ile152Thr,ENST00000373157,;COL6A5,missense_variant,p.Ile2209Thr,ENST00000265379,;COL6A5,missense_variant,p.Ile2209Thr,ENST00000312481,;	7120	246	227	SUCCESS
TBCCD1	55171	.	GRCh37	3	186272765	186272765	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751945370	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	10	148	0	ENST00000338733.5:c.968G>A	p.Ser323Asn	p.S323N	ENST00000338733	NM_018138.3	323	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS3276.1	968	MUTECT|MUSE	.	CTGAGCTCTTA	NONE	byFrequency	.	PROSITE_profiles:PS51329,hmmpanther:PTHR16052,Gene3D:2.160.20.70	.	.	ENSP00000411253	.	5/8	.	.	.	.	.	.	.	.	rs751945370	5/8	PASS	ENST00000424280	Transcript	.	.	ENSG00000113838	25546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.735)	.	deleterious(0.01)	.	TBCC1_HUMAN	TBCCD1	HGNC	C9J4M0_HUMAN	.	UPI0000073055	SNV	TBCCD1,missense_variant,p.Ser323Asn,ENST00000338733,;TBCCD1,missense_variant,p.Ser227Asn,ENST00000446782,;TBCCD1,missense_variant,p.Ser323Asn,ENST00000424280,;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;	1448	148	133	SUCCESS
LRRC3B	116135	.	GRCh37	3	26751740	26751740	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	9	182	0	ENST00000396641.2:c.577G>T	p.Asp193Tyr	p.D193Y	ENST00000396641	NM_052953.2	193	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2644.1	577	MUTECT|MUSE	.	ACGCTGACCTT	NONE	.	.	hmmpanther:PTHR24365:SF134,hmmpanther:PTHR24365	.	.	ENSP00000379880	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396641	Transcript	.	.	ENSG00000179796	28105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRC3B_HUMAN	LRRC3B	HGNC	C9JMC7_HUMAN,C9J6A1_HUMAN	.	UPI000000D990	SNV	LRRC3B,missense_variant,p.Asp193Tyr,ENST00000396641,;LRRC3B,missense_variant,p.Asp193Tyr,ENST00000456208,;LRRC3B,missense_variant,p.Asp193Tyr,ENST00000417744,;LRRC3B,downstream_gene_variant,,ENST00000414619,;LRRC3B,downstream_gene_variant,,ENST00000432040,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	1169	182	132	SUCCESS
ALS2CL	259173	.	GRCh37	3	46722798	46722798	+	synonymous_variant	Silent	SNP	C	C	T	rs1050047506	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	179	0	ENST00000318962.4:c.1374G>A	p.Arg458=	p.R458=	ENST00000318962	NM_147129.3	458	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2743.1	1374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTACCTGAA	NONE	.	.	Superfamily_domains:0038399,SMART_domains:SM00698,Gene3D:1h3iA01,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114	.	.	ENSP00000313670	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000318962	Transcript	.	.	ENSG00000178038	20605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL2CL_HUMAN	ALS2CL	HGNC	G3V0I7_HUMAN	.	UPI00001B5641	SNV	ALS2CL,synonymous_variant,p.%3D,ENST00000318962,;ALS2CL,synonymous_variant,p.%3D,ENST00000415953,;ALS2CL,upstream_gene_variant,,ENST00000383742,;ALS2CL,missense_variant,p.Gly450Asp,ENST00000431015,;ALS2CL,missense_variant,p.Gly457Asp,ENST00000434140,;ALS2CL,synonymous_variant,p.%3D,ENST00000450172,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,upstream_gene_variant,,ENST00000486301,;	1458	179	129	SUCCESS
NBEAL2	23218	.	GRCh37	3	47043918	47043918	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	84	0	ENST00000450053.3:c.5209A>T	p.Met1737Leu	p.M1737L	ENST00000450053	NM_015175.2	1737	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS46817.1	5209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTATGTCA	NONE	.	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	.	ENSP00000415034	.	32/54	.	.	.	.	.	.	.	.	.	32/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	deleterious(0.01)	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Met1737Leu,ENST00000450053,;NBEAL2,missense_variant,p.Met1553Leu,ENST00000292309,;NBEAL2,missense_variant,p.Met1025Leu,ENST00000416683,;NBEAL2,missense_variant,p.Met16Leu,ENST00000383740,;NBEAL2,missense_variant,p.Met106Leu,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000477412,;	5388	84	84	SUCCESS
MGST2	4258	.	GRCh37	4	140587115	140587115	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	116	0	ENST00000265498.1:c.-59C>G		p.*20*	ENST00000265498	NM_002413.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3749.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTCAAAGT	NONE	.	.	.	.	.	ENSP00000265498	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000265498	Transcript	.	.	ENSG00000085871	7063	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGST2_HUMAN	MGST2	HGNC	.	.	UPI000000128A	SNV	MGST2,5_prime_UTR_variant,,ENST00000506797,;MGST2,5_prime_UTR_variant,,ENST00000265498,;MGST2,non_coding_transcript_exon_variant,,ENST00000515137,;MGST2,upstream_gene_variant,,ENST00000515067,;MGST2,upstream_gene_variant,,ENST00000503816,;MGST2,upstream_gene_variant,,ENST00000502587,;	194	116	59	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148802995	148802995	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs138388284	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	174	0	ENST00000336498.3:c.946G>T	p.Gly316Ter	p.G316*	ENST00000336498	NM_024605.3	316	Gga/Tga	0	A:0	.	.	.	.	T	G/*	protein_coding	YES	CCDS34075.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACGGAGAG	NONE	byCluster	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	A:0.0002	ENSP00000336923	.	10/23	.	.	.	.	.	.	.	.	rs138388284	10/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,stop_gained,p.Gly316Ter,ENST00000336498,;ARHGAP10,upstream_gene_variant,,ENST00000507661,;ARHGAP10,upstream_gene_variant,,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	1185	174	100	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148984403	148984403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	129	0	ENST00000336498.3:c.2132C>A	p.Pro711His	p.P711H	ENST00000336498	NM_024605.3	711	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS34075.1	2132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCTTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5	.	.	ENSP00000336923	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.15)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Pro711His,ENST00000336498,;ARHGAP10,intron_variant,,ENST00000507661,;ARHGAP10,intron_variant,,ENST00000414545,;ARHGAP10,upstream_gene_variant,,ENST00000510076,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000513548,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	2371	129	119	SUCCESS
ACSL1	2180	.	GRCh37	4	185678997	185678997	+	synonymous_variant	Silent	SNP	C	C	T	rs375524934	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	191	0	ENST00000281455.2:c.1860G>A	p.Ser620=	p.S620=	ENST00000281455	NM_001995.2	620	tcG/tcA	0	T:0.0005	T:0.0008	.	T:0	.	T	S	protein_coding	YES	CCDS3839.1	1860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAACGACCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24096:SF167,hmmpanther:PTHR24096,Superfamily_domains:SSF56801	T:0	T:0	ENSP00000422607	T:0	19/21	.	.	.	.	.	.	.	.	rs375524934	19/21	PASS	ENST00000515030	Transcript	.	T:0.0002	ENSG00000151726	3569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ACSL1_HUMAN	ACSL1	HGNC	B7Z3Z9_HUMAN	.	UPI000004AC12	SNV	ACSL1,synonymous_variant,p.%3D,ENST00000504342,;ACSL1,synonymous_variant,p.%3D,ENST00000515030,;ACSL1,synonymous_variant,p.%3D,ENST00000513317,;ACSL1,synonymous_variant,p.%3D,ENST00000507295,;ACSL1,synonymous_variant,p.%3D,ENST00000437665,;ACSL1,synonymous_variant,p.%3D,ENST00000454703,;ACSL1,synonymous_variant,p.%3D,ENST00000503407,;ACSL1,synonymous_variant,p.%3D,ENST00000281455,;ACSL1,3_prime_UTR_variant,,ENST00000506733,;ACSL1,non_coding_transcript_exon_variant,,ENST00000513001,;	2186	191	106	SUCCESS
SEPSECS	51091	.	GRCh37	4	25156728	25156728	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754956032	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	97	0	ENST00000382103.2:c.593T>C	p.Leu198Pro	p.L198P	ENST00000382103	NM_016955.3	198	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3432.2	593	RADIA|MUTECT|MUSE|VARSCANS	.	TACGCAGCTCG	NONE	byFrequency	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF017689,TIGRFAM_domain:TIGR03531,Pfam_domain:PF05889,Gene3D:3.40.640.10,hmmpanther:PTHR12944	.	.	ENSP00000371535	.	5/11	.	.	.	.	.	.	.	.	rs754956032	5/11	PASS	ENST00000382103	Transcript	1	.	ENSG00000109618	30605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPCS_HUMAN	SEPSECS	HGNC	A1A4F3_HUMAN	.	UPI000020BDD0	SNV	SEPSECS,missense_variant,p.Leu119Pro,ENST00000302922,;SEPSECS,missense_variant,p.Leu198Pro,ENST00000382103,;SEPSECS,downstream_gene_variant,,ENST00000513285,;SEPSECS,missense_variant,p.Leu37Pro,ENST00000503150,;SEPSECS,3_prime_UTR_variant,,ENST00000358971,;SEPSECS,3_prime_UTR_variant,,ENST00000514585,;SEPSECS,non_coding_transcript_exon_variant,,ENST00000505513,;	666	97	88	SUCCESS
DMXL1	1657	.	GRCh37	5	118464996	118464996	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	83	294	1	ENST00000311085.8:c.1193A>C	p.Lys398Thr	p.K398T	ENST00000311085	NM_005509.4	398	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS4125.1	1193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATAAAGAAC	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	10/43	.	.	.	.	.	.	.	.	.	10/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Lys398Thr,ENST00000539542,;DMXL1,missense_variant,p.Lys398Thr,ENST00000311085,;DMXL1,missense_variant,p.Lys398Thr,ENST00000503802,;DMXL1,non_coding_transcript_exon_variant,,ENST00000514151,;DMXL1,non_coding_transcript_exon_variant,,ENST00000504031,;DMXL1,upstream_gene_variant,,ENST00000512281,;LAMTOR3P2,downstream_gene_variant,,ENST00000504479,;RP11-950K24.2,upstream_gene_variant,,ENST00000513820,;	1273	295	322	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250200	140250200	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	9	80	0	ENST00000398640.2:c.1512G>A	p.Ser504=	p.S504=	ENST00000398640	NM_018902.3	504	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47284.1	1512	MUTECT|MUSE|VARSCANS	.	CTGTCGAGCTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,synonymous_variant,p.%3D,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA12,upstream_gene_variant,,ENST00000398631,;	1512	80	122	SUCCESS
KIF4B	285643	.	GRCh37	5	154394167	154394167	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	17	203	0	ENST00000435029.4:c.748A>C	p.Thr250Pro	p.T250P	ENST00000435029	NM_001099293.1	250	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS47324.1	748	MUTECT|MUSE	.	AGAAAACCAAG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF392,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000387875	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000435029	Transcript	.	.	ENSG00000226650	6322	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KIF4B_HUMAN	KIF4B	HGNC	.	.	UPI000013D5DB	SNV	KIF4B,missense_variant,p.Thr250Pro,ENST00000435029,;	908	203	243	SUCCESS
QRSL1	55278	.	GRCh37	6	107113765	107113765	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746261877	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	10	173	0	ENST00000369046.4:c.1475A>G	p.Lys492Arg	p.K492R	ENST00000369046	NM_018292.4	492	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5057.1	1475	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAAATGGT	NONE	.	.	HAMAP:MF_00120,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF7,TIGRFAM_domain:TIGR00132,Gene3D:3.90.1300.10,Superfamily_domains:SSF75304	.	.	ENSP00000358042	.	11/11	.	.	.	.	.	.	.	.	rs746261877	11/11	PASS	ENST00000369046	Transcript	.	.	ENSG00000130348	21020	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.26)	.	GATA_HUMAN	QRSL1	HGNC	.	.	UPI0000047463	SNV	QRSL1,missense_variant,p.Lys492Arg,ENST00000369046,;	1579	173	105	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156943	26156943	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	46	103	0	ENST00000304218.3:c.325A>T	p.Lys109Ter	p.K109*	ENST00000304218	NM_005321.2	109	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4586.1	325	RADIA|MUTECT|MUSE	.	TCAACAAGAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,stop_gained,p.Lys109Ter,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	385	103	120	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156946	26156946	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	96	0	ENST00000304218.3:c.328A>T	p.Lys110Ter	p.K110*	ENST00000304218	NM_005321.2	110	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4586.1	328	RADIA|MUTECT|MUSE	.	ACAAGAAGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,stop_gained,p.Lys110Ter,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	388	96	117	SUCCESS
APOM	55937	.	GRCh37	6	31623826	31623826	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	143	0	ENST00000375916.3:c.83A>C	p.Gln28Pro	p.Q28P	ENST00000375916	NM_019101.2	28	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS4710.1	83	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCAACTGA	NONE	.	.	hmmpanther:PTHR32028,Pfam_domain:PF11032	.	.	ENSP00000365081	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000375916	Transcript	.	.	ENSG00000204444	13916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.43)	.	APOM_HUMAN	APOM	HGNC	.	.	UPI00000369DE	SNV	APOM,missense_variant,p.Gln28Pro,ENST00000375916,;APOM,intron_variant,,ENST00000375918,;APOM,intron_variant,,ENST00000375920,;BAG6,upstream_gene_variant,,ENST00000375976,;BAG6,upstream_gene_variant,,ENST00000424176,;BAG6,upstream_gene_variant,,ENST00000362049,;BAG6,upstream_gene_variant,,ENST00000435080,;BAG6,upstream_gene_variant,,ENST00000437771,;BAG6,upstream_gene_variant,,ENST00000375964,;BAG6,upstream_gene_variant,,ENST00000441054,;BAG6,upstream_gene_variant,,ENST00000454165,;BAG6,upstream_gene_variant,,ENST00000452994,;BAG6,upstream_gene_variant,,ENST00000211379,;C6orf47,downstream_gene_variant,,ENST00000375911,;BAG6,upstream_gene_variant,,ENST00000451898,;BAG6,upstream_gene_variant,,ENST00000428326,;BAG6,upstream_gene_variant,,ENST00000404765,;BAG6,upstream_gene_variant,,ENST00000456622,;BAG6,upstream_gene_variant,,ENST00000434444,;BAG6,upstream_gene_variant,,ENST00000439687,;BAG6,upstream_gene_variant,,ENST00000424480,;BAG6,upstream_gene_variant,,ENST00000456286,;BAG6,upstream_gene_variant,,ENST00000433828,;C6orf47-AS1,upstream_gene_variant,,ENST00000422049,;	579	143	179	SUCCESS
PEX6	5190	.	GRCh37	6	42933450	42933450	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs267608241	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	15	130	0	ENST00000304611.8:c.2440C>T	p.Arg814Ter	p.R814*	ENST00000304611	NM_000287.3	814	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS4877.1	2440	MUTECT|MUSE|VARSCANS	pathogenic	ACTTCGCCCCC	NONE	byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077:SF9,hmmpanther:PTHR23077	.	.	ENSP00000303511	.	13/17	.	.	.	.	.	.	.	.	rs267608241,CM100015,PEX6_00103,COSM3079466	13/17	PASS	ENST00000304611	Transcript	.	.	ENSG00000124587	8859	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,0,1	.	.	.	.	.	0,0,0,1	PEX6_HUMAN	PEX6	HGNC	.	.	UPI00001316EC	SNV	PEX6,stop_gained,p.Arg814Ter,ENST00000304611,;PEX6,synonymous_variant,p.%3D,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,;	2510	130	158	SUCCESS
RIMS1	22999	.	GRCh37	6	72678720	72678720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	85	0	ENST00000521978.1:c.199T>C	p.Cys67Arg	p.C67R	ENST00000521978	NM_014989.5	67	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS47449.1	199	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGCAAA	NONE	.	.	PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19,Gene3D:3.30.40.10,Superfamily_domains:SSF57903	.	.	ENSP00000428417	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.14)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Cys67Arg,ENST00000518273,;RIMS1,missense_variant,p.Cys67Arg,ENST00000491071,;RIMS1,missense_variant,p.Cys67Arg,ENST00000517960,;RIMS1,missense_variant,p.Cys67Arg,ENST00000522291,;RIMS1,missense_variant,p.Cys67Arg,ENST00000264839,;RIMS1,missense_variant,p.Cys67Arg,ENST00000348717,;RIMS1,missense_variant,p.Cys67Arg,ENST00000520567,;RIMS1,missense_variant,p.Cys67Arg,ENST00000521978,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	199	85	89	SUCCESS
SNAP91	9892	.	GRCh37	6	84311120	84311120	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	98	239	0	ENST00000369694.2:c.1194A>T	p.Ala398=	p.A398=	ENST00000369694	NM_001242792.1	398	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47455.1	1194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGTGCTTC	NONE	.	.	hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,synonymous_variant,p.%3D,ENST00000439399,;SNAP91,synonymous_variant,p.%3D,ENST00000195649,;SNAP91,synonymous_variant,p.%3D,ENST00000521485,;SNAP91,synonymous_variant,p.%3D,ENST00000520302,;SNAP91,synonymous_variant,p.%3D,ENST00000428679,;SNAP91,synonymous_variant,p.%3D,ENST00000369694,;SNAP91,synonymous_variant,p.%3D,ENST00000521743,;SNAP91,synonymous_variant,p.%3D,ENST00000369691,;SNAP91,intron_variant,,ENST00000521931,;SNAP91,intron_variant,,ENST00000437520,;SNAP91,intron_variant,,ENST00000520213,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	1511	239	163	SUCCESS
OR9A4	130075	.	GRCh37	7	141619595	141619595	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782633602	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	66	0	ENST00000548136.1:c.920G>T	p.Arg307Leu	p.R307L	ENST00000548136	NM_001001656.1	307	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43661.1	920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACGCTGCT	CODON|p.R307C|c.919C>T|3	byFrequency	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF216,hmmpanther:PTHR24242	.	.	ENSP00000448789	.	1/1	.	.	.	.	.	.	.	.	rs782633602	1/1	PASS	ENST00000548136	Transcript	.	.	ENSG00000258083	15095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0.01)	.	OR9A4_HUMAN	OR9A4	HGNC	.	.	UPI0000041D24	SNV	OR9A4,missense_variant,p.Arg307Leu,ENST00000548136,;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	979	66	57	SUCCESS
ZNF716	441234	.	GRCh37	7	57522850	57522850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	36	0	ENST00000420713.1:c.238A>T	p.Asn80Tyr	p.N80Y	ENST00000420713	NM_001159279.1	80	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS55112.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAAATGAG	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50805	.	.	ENSP00000394248	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0.03)	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Asn80Tyr,ENST00000420713,;	350	36	30	SUCCESS
ZNF716	441234	.	GRCh37	7	57522851	57522851	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	36	0	ENST00000420713.1:c.239A>T	p.Asn80Ile	p.N80I	ENST00000420713	NM_001159279.1	80	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS55112.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAATGAGA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50805	.	.	ENSP00000394248	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	deleterious(0.01)	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Asn80Ile,ENST00000420713,;	351	36	30	SUCCESS
TRRAP	8295	.	GRCh37	7	98609873	98609873	+	synonymous_variant	Silent	SNP	C	C	T	rs762119583	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	74	0	ENST00000359863.4:c.11475C>T	p.Leu3825=	p.L3825=	ENST00000359863	NM_001244580.1	3825	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS59066.1	11475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTCGCCCA	NONE	.	.	hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000352925	.	72/72	.	.	.	.	.	.	.	.	rs762119583,COSM3883784,COSM3883785	72/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,synonymous_variant,p.%3D,ENST00000355540,;TRRAP,synonymous_variant,p.%3D,ENST00000446306,;TRRAP,synonymous_variant,p.%3D,ENST00000456197,;TRRAP,synonymous_variant,p.%3D,ENST00000359863,;AC004893.11,upstream_gene_variant,,ENST00000360902,;	11684	74	60	SUCCESS
LRRC24	441381	.	GRCh37	8	145748134	145748134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	14	0	ENST00000529415.2:c.1267G>A	p.Ala423Thr	p.A423T	ENST00000529415		423	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34969.1	1267	MUTECT|MUSE	.	CATGGCGACCA	NONE	.	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000434849	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000529415	Transcript	.	.	ENSG00000254402	28947	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.27)	.	LRC24_HUMAN	LRRC24	HGNC	.	.	UPI0000419443	SNV	LRRC24,missense_variant,p.Ala423Thr,ENST00000529415,;LRRC24,missense_variant,p.Ala420Thr,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000525766,;C8orf82,downstream_gene_variant,,ENST00000524821,;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC14,downstream_gene_variant,,ENST00000529022,;RECQL4,upstream_gene_variant,,ENST00000428558,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;RECQL4,upstream_gene_variant,,ENST00000532237,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;RECQL4,upstream_gene_variant,,ENST00000532269,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	1385	14	25	SUCCESS
KCNB2	9312	.	GRCh37	8	73480279	73480279	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	242	18	155	0	ENST00000523207.1:c.310C>T	p.Arg104Trp	p.R104W	ENST00000523207	NM_004770.2	104	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6209.1	310	MUTECT|MUSE	.	TCTACCGGACC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169	.	.	ENSP00000430846	.	2/3	.	.	.	.	.	.	.	.	COSM751841	2/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Arg104Trp,ENST00000523207,;	898	156	260	SUCCESS
ZFHX4	79776	.	GRCh37	8	77616406	77616406	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1184061424	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	220	23	154	0	ENST00000521891.2:c.83A>G	p.Asp28Gly	p.D28G	ENST00000521891	NM_024721.4	28	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47878.2	83	MUTECT|MUSE|VARSCANS	.	ACTTGATAATG	NONE	.	.	.	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.728)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Asp28Gly,ENST00000517585,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000520307,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000523885,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000518282,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000455469,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000050961,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000521891,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	531	154	244	SUCCESS
STMN2	11075	.	GRCh37	8	80553709	80553709	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1409002840	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	29	103	0	ENST00000220876.7:c.212T>C	p.Leu71Ser	p.L71S	ENST00000220876	NM_007029.3	71	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS56542.1	212	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTAGCTT	NONE	.	.	PROSITE_profiles:PS51663,hmmpanther:PTHR10104,hmmpanther:PTHR10104:SF18,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285,Superfamily_domains:0043535,Prints_domain:PR00345	.	.	ENSP00000429243	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000518111	Transcript	.	.	ENSG00000104435	10577	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.663)	.	tolerated(0.32)	.	STMN2_HUMAN	STMN2	HGNC	.	.	UPI0000E21B31	SNV	STMN2,missense_variant,p.Leu71Ser,ENST00000518111,;STMN2,missense_variant,p.Leu60Ser,ENST00000518491,;STMN2,missense_variant,p.Leu71Ser,ENST00000220876,;	256	103	215	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123156882	123156882	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs765457208	.	TCGA-DD-A119-01	TCGA-DD-A119-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	28	287	0	ENST00000349780.4:c.5486A>T	p.His1829Leu	p.H1829L	ENST00000349780	NM_018249.5	1829	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS6823.1	5486	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATGTAGT	NONE	.	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	36/38	.	.	.	.	.	.	.	.	rs765457208	36/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	deleterious(0.02)	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,missense_variant,p.His1223Leu,ENST00000416449,;CDK5RAP2,missense_variant,p.His1829Leu,ENST00000349780,;CDK5RAP2,missense_variant,p.His1797Leu,ENST00000360822,;CDK5RAP2,missense_variant,p.His839Leu,ENST00000425647,;CDK5RAP2,missense_variant,p.His1750Leu,ENST00000360190,;CDK5RAP2,missense_variant,p.His1788Leu,ENST00000359309,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000433194,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000480467,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000484546,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000474262,;CDK5RAP2,upstream_gene_variant,,ENST00000495406,;	5666	287	220	SUCCESS
LRRC8A	56262	.	GRCh37	9	131670854	131670855	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	46	0	ENST00000259324.5:c.1412_1413del	p.Leu471GlnfsTer13	p.L471Qfs*13	ENST00000259324	NM_001127244.1	471	CTc/c	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS35155.1	1411-1412	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGGGCCTCAAGG	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000259324	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000259324	Transcript	.	.	ENSG00000136802	19027	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRC8A_HUMAN	LRRC8A	HGNC	Q96SW8_HUMAN	.	UPI000004EF9E	deletion	LRRC8A,frameshift_variant,p.Leu471GlnfsTer13,ENST00000259324,;LRRC8A,frameshift_variant,p.Leu471GlnfsTer13,ENST00000372600,;LRRC8A,frameshift_variant,p.Leu471GlnfsTer13,ENST00000372599,;LRRC8A,upstream_gene_variant,,ENST00000492784,;	1934-1935	46	31	SUCCESS
S1PR3	1903	.	GRCh37	9	91617111	91617111	+	synonymous_variant	Silent	SNP	C	C	T	rs138808274	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	35	0	ENST00000358157.2:c.996C>T	p.Leu332=	p.L332=	ENST00000358157	NM_005226.3	332	ctC/ctT	0	T:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS6680.1	996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTCGACCC	NONE	byCluster	.	hmmpanther:PTHR22750:SF24,hmmpanther:PTHR22750,Superfamily_domains:SSF81321,Prints_domain:PR01524	.	T:0	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	rs138808274,COSM3927189	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,synonymous_variant,p.%3D,ENST00000358157,;S1PR3,synonymous_variant,p.%3D,ENST00000375846,;	5691	35	25	SUCCESS
SLK	9748	.	GRCh37	10	105750545	105750545	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	96	0	ENST00000369755.3:c.263A>G	p.His88Arg	p.H88R	ENST00000369755	NM_014720.2	88	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS7553.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCACCCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000358770	.	2/19	.	.	.	.	.	.	.	.	.	2/19	nonpreferredpair	ENST00000369755	Transcript	.	.	ENSG00000065613	11088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	SLK_HUMAN	SLK	HGNC	.	.	UPI000004B6D3	SNV	SLK,missense_variant,p.His88Arg,ENST00000369755,;SLK,missense_variant,p.His88Arg,ENST00000335753,;	808	96	114	SUCCESS
DCDC1	341019	.	GRCh37	11	30900222	30900222	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	68	0	ENST00000444572.2:c.2366C>G	p.Ala789Gly	p.A789G	ENST00000444572		789	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	.	.	5261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGCATAA	NONE	.	.	.	.	.	ENSP00000472625	.	36/36	.	.	.	.	.	.	.	.	.	36/36	nonpreferredpair	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	tolerated(0.38)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Ala1754Gly,ENST00000597505,;DCDC1,downstream_gene_variant,,ENST00000406071,;DCDC1,missense_variant,p.Ala789Gly,ENST00000444572,;DCDC1,3_prime_UTR_variant,,ENST00000303697,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	5261	68	77	SUCCESS
ATL3	25923	.	GRCh37	11	63396832	63396832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	91	228	1	ENST00000398868.3:c.1585G>T	p.Ala529Ser	p.A529S	ENST00000398868	NM_015459.3	529	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41663.1	1585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGCATCCC	NONE	.	.	hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32	.	.	ENSP00000381844	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000398868	Transcript	.	.	ENSG00000184743	24526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.82)	.	ATLA3_HUMAN	ATL3	HGNC	F5H6I7_HUMAN	.	UPI0000071A21	SNV	ATL3,missense_variant,p.Ala511Ser,ENST00000538786,;ATL3,missense_variant,p.Ala529Ser,ENST00000398868,;ATL3,missense_variant,p.Ala556Ser,ENST00000332645,;RP11-697H9.4,upstream_gene_variant,,ENST00000605170,;	1862	229	218	SUCCESS
DLG2	1740	.	GRCh37	11	83173062	83173062	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	373	45	390	0	ENST00000398309.2:c.2489T>C	p.Phe830Ser	p.F830S	ENST00000398309	NM_001364.3	830	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS44690.1	2804	MUTECT|MUSE|VARSCANS	.	CTCCAAATTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52540,PIRSF_domain:PIRSF001741,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PROSITE_profiles:PS50052	.	.	ENSP00000365272	.	27/28	.	.	.	.	.	.	.	.	.	27/28	nonpreferredpair	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,missense_variant,p.Phe751Ser,ENST00000330014,;DLG2,missense_variant,p.Phe812Ser,ENST00000532653,;DLG2,missense_variant,p.Phe797Ser,ENST00000531015,;DLG2,missense_variant,p.Phe709Ser,ENST00000418306,;DLG2,missense_variant,p.Phe826Ser,ENST00000524982,;DLG2,missense_variant,p.Phe294Ser,ENST00000426717,;DLG2,missense_variant,p.Phe869Ser,ENST00000280241,;DLG2,missense_variant,p.Phe830Ser,ENST00000398309,;DLG2,missense_variant,p.Phe935Ser,ENST00000376104,;DLG2,missense_variant,p.Phe580Ser,ENST00000537455,;DLG2,missense_variant,p.Phe294Ser,ENST00000376106,;DLG2,missense_variant,p.Phe935Ser,ENST00000543673,;DLG2,missense_variant,p.Phe308Ser,ENST00000404783,;DLG2,downstream_gene_variant,,ENST00000457267,;DLG2,non_coding_transcript_exon_variant,,ENST00000529159,;AP003026.1,upstream_gene_variant,,ENST00000420284,;	3116	390	418	SUCCESS
FGF6	2251	.	GRCh37	12	4553334	4553334	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759669908	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	92	0	ENST00000228837.2:c.415G>A	p.Val139Ile	p.V139I	ENST00000228837	NM_020996.1	139	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8527.1	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACGAAGA	BUFFER|p.F138F|c.414C>T|4	byFrequency	.	hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263,Prints_domain:PR00262	.	.	ENSP00000228837	.	2/3	.	.	.	.	.	.	.	.	rs759669908,COSM239873	2/3	nonpreferredpair	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.14)	0,1	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,missense_variant,p.Val18Ile,ENST00000543077,;FGF6,missense_variant,p.Val139Ile,ENST00000228837,;	459	92	85	SUCCESS
H1FNT	0	.	GRCh37	12	48723755	48723755	+	synonymous_variant	Silent	SNP	G	G	C	rs752051629	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	71	0	ENST00000335017.1:c.681G>C	p.Pro227=	p.P227=	ENST00000335017	NM_181788.1	227	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS8762.1	681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGAGGTC	NONE	byFrequency	.	hmmpanther:PTHR11467:SF14,hmmpanther:PTHR11467	.	.	ENSP00000334805	.	1/1	.	.	.	.	.	.	.	.	rs752051629,COSM939814	1/1	nonpreferredpair	ENST00000335017	Transcript	.	.	ENSG00000187166	24893	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	H1FNT_HUMAN	H1FNT	HGNC	.	.	UPI00001AA15C	SNV	H1FNT,synonymous_variant,p.%3D,ENST00000335017,;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	993	71	31	SUCCESS
GALNT6	11226	.	GRCh37	12	51773531	51773531	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745814073	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	19	0	ENST00000356317.3:c.35G>T	p.Arg12Leu	p.R12L	ENST00000356317	NM_007210.3	12	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS8813.1	35	MUTECT|MUSE	.	CCAGGCGCAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675	.	.	ENSP00000444171	.	2/11	.	.	.	.	.	.	.	.	rs745814073	2/11	nonpreferredpair	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.063)	.	deleterious_low_confidence(0)	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,missense_variant,p.Arg12Leu,ENST00000604506,;GALNT6,missense_variant,p.Arg12Leu,ENST00000605617,;GALNT6,missense_variant,p.Arg12Leu,ENST00000356317,;GALNT6,missense_variant,p.Arg12Leu,ENST00000604381,;GALNT6,missense_variant,p.Arg12Leu,ENST00000604847,;GALNT6,missense_variant,p.Arg12Leu,ENST00000603188,;GALNT6,missense_variant,p.Arg12Leu,ENST00000603563,;GALNT6,missense_variant,p.Arg12Leu,ENST00000605055,;GALNT6,missense_variant,p.Arg12Leu,ENST00000543196,;GALNT6,missense_variant,p.Arg12Leu,ENST00000605138,;GALNT6,missense_variant,p.Arg12Leu,ENST00000604426,;GALNT6,downstream_gene_variant,,ENST00000603203,;GALNT6,downstream_gene_variant,,ENST00000605720,;GALNT6,downstream_gene_variant,,ENST00000605089,;GALNT6,downstream_gene_variant,,ENST00000603482,;GALNT6,downstream_gene_variant,,ENST00000605822,;GALNT6,downstream_gene_variant,,ENST00000605367,;GALNT6,missense_variant,p.Arg12Leu,ENST00000603641,;	241	19	15	SUCCESS
RDH16	8608	.	GRCh37	12	57351246	57351246	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs764609964	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	110	0	ENST00000398138.3:c.1A>G	p.Met1?	p.M1?	ENST00000398138	NM_003708.3	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS41797.1	1	RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGGCTT	NONE	.	.	hmmpanther:PTHR24316:SF295,hmmpanther:PTHR24316	.	.	ENSP00000381206	.	1/4	.	.	.	.	.	.	.	.	rs764609964	1/4	nonpreferredpair	ENST00000398138	Transcript	.	.	ENSG00000139547	29674	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	RDH16_HUMAN	RDH16	HGNC	.	.	UPI000013D71C	SNV	RDH16,start_lost,p.Met1?,ENST00000398138,;RDH16,non_coding_transcript_exon_variant,,ENST00000360752,;	858	110	72	SUCCESS
LAMP1	3916	.	GRCh37	13	113973926	113973926	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	51	0	ENST00000332556.4:c.705C>T	p.Ser235=	p.S235=	ENST00000332556	NM_005561.3	235	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41909.1	705	RADIA|VARSCANS	.	GCCAGCATGGG	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF27,PROSITE_patterns:PS00310,Pfam_domain:PF01299,Prints_domain:PR00336	.	.	ENSP00000333298	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000332556	Transcript	.	.	ENSG00000185896	6499	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMP1_HUMAN	LAMP1	HGNC	B3KRY3_HUMAN	.	UPI0000072D40	SNV	LAMP1,synonymous_variant,p.%3D,ENST00000332556,;LAMP1,synonymous_variant,p.%3D,ENST00000397181,;GRTP1,downstream_gene_variant,,ENST00000375431,;LAMP1,upstream_gene_variant,,ENST00000471046,;LAMP1,non_coding_transcript_exon_variant,,ENST00000472564,;	899	51	31	SUCCESS
IGHV3-7	28452	.	GRCh37	14	106518833	106518833	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs113165346	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	93	304	1	ENST00000390598.2:c.21G>T	p.Trp7Cys	p.W7C	ENST00000390598		7	tgG/tgT	0	.	.	.	.	.	A	W/C	IG_V_gene	YES	.	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCCAGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266	.	.	ENSP00000375007	.	1/2	.	.	.	.	.	.	.	.	rs113165346	1/2	nonpreferredpair	ENST00000390598	Transcript	.	.	ENSG00000211938	5620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated_low_confidence(0.18)	.	.	IGHV3-7	HGNC	.	.	UPI0000115FF4	SNV	IGHV3-7,missense_variant,p.Trp7Cys,ENST00000390598,;	100	305	274	SUCCESS
MMP14	4323	.	GRCh37	14	23310816	23310816	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	50	0	ENST00000311852.6:c.225A>G	p.Gln75=	p.Q75=	ENST00000311852	NM_004995.3	75	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS9577.1	225	RADIA|VARSCANS	.	TTGCAAGTAAC	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000308208	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000311852	Transcript	.	.	ENSG00000157227	7160	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,synonymous_variant,p.%3D,ENST00000311852,;MMP14,synonymous_variant,p.%3D,ENST00000548761,;MMP14,downstream_gene_variant,,ENST00000547279,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,non_coding_transcript_exon_variant,,ENST00000547074,;MMP14,upstream_gene_variant,,ENST00000547596,;	486	50	35	SUCCESS
TRMT5	57570	.	GRCh37	14	61447877	61447877	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	29	0	ENST00000261249.6:c.-186C>T		p.*62*	ENST00000261249	NM_020810.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32092.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGAAGTA	NONE	.	.	.	.	.	ENSP00000261249	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000261249	Transcript	.	.	ENSG00000126814	23141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRM5_HUMAN	TRMT5	HGNC	.	.	UPI000016003D	SNV	TRMT5,5_prime_UTR_variant,,ENST00000261249,;TRMT5,5_prime_UTR_variant,,ENST00000553903,;SLC38A6,5_prime_UTR_variant,,ENST00000354886,;SLC38A6,upstream_gene_variant,,ENST00000451406,;SLC38A6,upstream_gene_variant,,ENST00000456840,;SLC38A6,upstream_gene_variant,,ENST00000267488,;TRMT5,upstream_gene_variant,,ENST00000555420,;SLC38A6,upstream_gene_variant,,ENST00000526105,;SLC38A6,upstream_gene_variant,,ENST00000533744,;RP11-193F5.1,intron_variant,,ENST00000553946,;SLC38A6,upstream_gene_variant,,ENST00000532148,;SLC38A6,upstream_gene_variant,,ENST00000554304,;SLC38A6,upstream_gene_variant,,ENST00000491344,;SLC38A6,upstream_gene_variant,,ENST00000525723,;SLC38A6,upstream_gene_variant,,ENST00000528350,;SLC38A6,upstream_gene_variant,,ENST00000529345,;SLC38A6,upstream_gene_variant,,ENST00000525585,;SLC38A6,upstream_gene_variant,,ENST00000527591,;SLC38A6,upstream_gene_variant,,ENST00000554072,;SLC38A6,upstream_gene_variant,,ENST00000524402,;	200	29	17	SUCCESS
GPR68	8111	.	GRCh37	14	91700443	91700443	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	16	0	ENST00000531499.2:c.952G>A	p.Glu318Lys	p.E318K	ENST00000531499		318	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9894.2	952	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCCCTGG	NONE	.	.	hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF5,Prints_domain:PR01564	.	.	ENSP00000434045	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000531499	Transcript	.	.	ENSG00000119714	4519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated(0.25)	.	OGR1_HUMAN	GPR68	HGNC	E9PNU7_HUMAN	.	UPI000005042A	SNV	GPR68,missense_variant,p.Glu318Lys,ENST00000535815,;GPR68,missense_variant,p.Glu318Lys,ENST00000531499,;GPR68,missense_variant,p.Glu318Lys,ENST00000529102,;GPR68,missense_variant,p.Glu328Lys,ENST00000238699,;GPR68,downstream_gene_variant,,ENST00000529300,;	1292	16	19	SUCCESS
DTWD1	56986	.	GRCh37	15	49935632	49935632	+	synonymous_variant	Silent	SNP	C	C	T	rs749020916	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	11	209	0	ENST00000251250.6:c.772C>T	p.Leu258=	p.L258=	ENST00000251250	NM_020234.5	258	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10132.1	772	MUTECT|MUSE	.	ACTTTCTGGTA	NONE	.	.	hmmpanther:PTHR15627:SF8,hmmpanther:PTHR15627,Pfam_domain:PF03942	.	.	ENSP00000251250	.	6/6	.	.	.	.	.	.	.	.	rs749020916	6/6	nonpreferredpair	ENST00000251250	Transcript	.	.	ENSG00000104047	30926	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DTWD1_HUMAN	DTWD1	HGNC	H0YK73_HUMAN	.	UPI000006DA3D	SNV	DTWD1,synonymous_variant,p.%3D,ENST00000251250,;DTWD1,synonymous_variant,p.%3D,ENST00000403028,;DTWD1,synonymous_variant,p.%3D,ENST00000558653,;DTWD1,synonymous_variant,p.%3D,ENST00000415425,;DTWD1,3_prime_UTR_variant,,ENST00000557988,;	979	209	196	SUCCESS
MYO9A	4649	.	GRCh37	15	72119321	72119321	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765535109	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	52	0	ENST00000356056.5:c.7247G>A	p.Arg2416Gln	p.R2416Q	ENST00000356056	NM_006901.3	2416	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10239.1	7247	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCGCAAC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000348349	.	42/42	.	.	.	.	.	.	.	.	rs765535109	42/42	nonpreferredpair	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	tolerated_low_confidence(0.06)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.Arg1266Gln,ENST00000561618,;MYO9A,missense_variant,p.Arg331Gln,ENST00000568042,;MYO9A,missense_variant,p.Arg2487Gln,ENST00000424560,;MYO9A,missense_variant,p.Arg2416Gln,ENST00000356056,;MYO9A,missense_variant,p.Arg2397Gln,ENST00000444904,;MYO9A,3_prime_UTR_variant,,ENST00000564571,;MYO9A,downstream_gene_variant,,ENST00000568481,;CTD-2524L6.3,downstream_gene_variant,,ENST00000562658,;CTD-2524L6.3,downstream_gene_variant,,ENST00000561834,;CTD-2524L6.3,downstream_gene_variant,,ENST00000563041,;MYO9A,downstream_gene_variant,,ENST00000564699,;	7720	52	53	SUCCESS
CRAMP1L	0	.	GRCh37	16	1706365	1706365	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371446549	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	30	0	ENST00000293925.5:c.1607G>A	p.Arg536Gln	p.R536Q	ENST00000293925	NM_020825.3	536	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10440.2	1607	MUTECT|MUSE|VARSCANS	.	CACCCGGGAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21677	.	A:0.0005	ENSP00000380559	.	10/21	.	.	.	.	.	.	.	.	rs371446549	10/21	nonpreferredpair	ENST00000397412	Transcript	.	.	ENSG00000007545	14122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.65)	.	CRML_HUMAN	CRAMP1L	HGNC	B2RNX8_HUMAN	.	UPI000066D946	SNV	CRAMP1L,missense_variant,p.Arg533Gln,ENST00000436138,;CRAMP1L,missense_variant,p.Arg536Gln,ENST00000293925,;CRAMP1L,missense_variant,p.Arg536Gln,ENST00000397412,;CRAMP1L,intron_variant,,ENST00000262317,;LA16c-431H6.6,intron_variant,,ENST00000454337,;	1706	30	26	SUCCESS
PKD1	5310	.	GRCh37	16	2147400	2147400	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144593342	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	32	0	ENST00000262304.4:c.10325C>T	p.Ala3442Val	p.A3442V	ENST00000262304	NM_001009944.2	3442	gCg/gTg	0	A:0.0041	A:0.0038	.	A:0	.	A	A/V	protein_coding	YES	CCDS32369.1	10325	RADIA|MUTECT|MUSE	.	GGCCCGCCTGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877	A:0	A:0	ENSP00000262304	A:0	33/46	.	.	.	.	.	.	.	.	rs144593342,COSM1220707	33/46	nonpreferredpair	ENST00000262304	Transcript	.	A:0.0010	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.004)	A:0	.	0,1	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Ala3442Val,ENST00000262304,;PKD1,missense_variant,p.Ala3441Val,ENST00000423118,;PKD1,downstream_gene_variant,,ENST00000567946,;RP11-304L19.1,downstream_gene_variant,,ENST00000570072,;RP11-304L19.3,upstream_gene_variant,,ENST00000565937,;RP11-304L19.1,downstream_gene_variant,,ENST00000563284,;PKD1,downstream_gene_variant,,ENST00000566784,;PKD1,downstream_gene_variant,,ENST00000570193,;PKD1,downstream_gene_variant,,ENST00000475889,;PKD1,downstream_gene_variant,,ENST00000566905,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,upstream_gene_variant,,ENST00000568796,;PKD1,downstream_gene_variant,,ENST00000415938,;PKD1,downstream_gene_variant,,ENST00000486339,;PKD1,downstream_gene_variant,,ENST00000496574,;PKD1,upstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000570253,;PKD1,downstream_gene_variant,,ENST00000483814,;PKD1,upstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000562297,;PKD1,downstream_gene_variant,,ENST00000483731,;PKD1,downstream_gene_variant,,ENST00000480227,;PKD1,upstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000469851,;PKD1,downstream_gene_variant,,ENST00000474088,;PKD1,downstream_gene_variant,,ENST00000471603,;PKD1,upstream_gene_variant,,ENST00000472659,;	10534	32	13	SUCCESS
MYO18A	399687	.	GRCh37	17	27414105	27414105	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	52	143	0	ENST00000527372.1:c.5561A>T	p.Lys1854Met	p.K1854M	ENST00000527372	NM_078471.3	1854	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS45642.1	5561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTTCTCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000437073	.	38/42	.	.	.	.	.	.	.	.	.	38/42	nonpreferredpair	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Lys1854Met,ENST00000527372,;MYO18A,missense_variant,p.Lys1817Met,ENST00000533112,;MYO18A,missense_variant,p.Lys1854Met,ENST00000354329,;MYO18A,missense_variant,p.Lys1854Met,ENST00000531253,;TIAF1,5_prime_UTR_variant,,ENST00000408971,;MYO18A,non_coding_transcript_exon_variant,,ENST00000546105,;MYO18A,non_coding_transcript_exon_variant,,ENST00000529578,;MYO18A,non_coding_transcript_exon_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000531438,;MYO18A,non_coding_transcript_exon_variant,,ENST00000529889,;MYO18A,upstream_gene_variant,,ENST00000527312,;	5742	144	130	SUCCESS
MED24	9862	.	GRCh37	17	38179530	38179530	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755768525	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	124	1	ENST00000394128.2:c.2104C>T	p.Pro702Ser	p.P702S	ENST00000394128	NM_014815.3	702	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11359.1	2104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGCAGCA	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	20/26	.	.	.	.	.	.	.	.	rs755768525	20/26	nonpreferredpair	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.326)	.	tolerated(0.42)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.Pro652Ser,ENST00000535071,;MED24,missense_variant,p.Pro721Ser,ENST00000501516,;MED24,missense_variant,p.Pro689Ser,ENST00000356271,;MED24,missense_variant,p.Pro702Ser,ENST00000394128,;MED24,missense_variant,p.Pro727Ser,ENST00000394126,;MED24,missense_variant,p.Pro689Ser,ENST00000394127,;MED24,upstream_gene_variant,,ENST00000422942,;MED24,downstream_gene_variant,,ENST00000580885,;SNORD124,downstream_gene_variant,,ENST00000459577,;MED24,upstream_gene_variant,,ENST00000470126,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,non_coding_transcript_exon_variant,,ENST00000492176,;MED24,non_coding_transcript_exon_variant,,ENST00000580720,;MED24,upstream_gene_variant,,ENST00000579364,;MED24,downstream_gene_variant,,ENST00000580921,;MED24,downstream_gene_variant,,ENST00000578901,;MED24,downstream_gene_variant,,ENST00000584782,;MED24,downstream_gene_variant,,ENST00000581058,;MED24,downstream_gene_variant,,ENST00000495586,;MED24,upstream_gene_variant,,ENST00000491466,;	2186	125	91	SUCCESS
MED24	9862	.	GRCh37	17	38182514	38182514	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	28	53	0	ENST00000394128.2:c.1880A>C	p.His627Pro	p.H627P	ENST00000394128	NM_014815.3	627	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS11359.1	1880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGTGGGCC	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	19/26	.	.	.	.	.	.	.	.	.	19/26	nonpreferredpair	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	deleterious(0.01)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.His577Pro,ENST00000535071,;MED24,missense_variant,p.His646Pro,ENST00000501516,;MED24,missense_variant,p.His614Pro,ENST00000356271,;MED24,missense_variant,p.His627Pro,ENST00000394128,;MED24,missense_variant,p.His652Pro,ENST00000394126,;MED24,missense_variant,p.His568Pro,ENST00000580885,;MED24,missense_variant,p.His614Pro,ENST00000394127,;MED24,upstream_gene_variant,,ENST00000422942,;SNORD124,downstream_gene_variant,,ENST00000459577,;MED24,upstream_gene_variant,,ENST00000470126,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,3_prime_UTR_variant,,ENST00000581058,;MED24,non_coding_transcript_exon_variant,,ENST00000580921,;MED24,non_coding_transcript_exon_variant,,ENST00000580720,;MED24,downstream_gene_variant,,ENST00000584077,;MED24,upstream_gene_variant,,ENST00000492176,;MED24,downstream_gene_variant,,ENST00000578901,;MED24,downstream_gene_variant,,ENST00000584782,;MED24,downstream_gene_variant,,ENST00000495586,;MED24,upstream_gene_variant,,ENST00000491466,;	1962	53	53	SUCCESS
CCR10	2826	.	GRCh37	17	40831707	40831707	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1391271591	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	46	1	ENST00000332438.4:c.953G>A	p.Arg318His	p.R318H	ENST00000332438	NM_016602.2	318	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11435.1	953	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGGCGGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF72,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657,Prints_domain:PR00237	.	.	ENSP00000332504	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000332438	Transcript	.	.	ENSG00000184451	4474	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CCR10_HUMAN	CCR10	HGNC	K7ER70_HUMAN,K7EPC9_HUMAN	.	UPI0000212EE9	SNV	CCR10,missense_variant,p.Arg96His,ENST00000591765,;CCR10,missense_variant,p.Arg318His,ENST00000332438,;PLEKHH3,upstream_gene_variant,,ENST00000412503,;PLEKHH3,upstream_gene_variant,,ENST00000587627,;PLEKHH3,upstream_gene_variant,,ENST00000591022,;CCR10,downstream_gene_variant,,ENST00000591568,;CNTNAP1,upstream_gene_variant,,ENST00000264638,;PLEKHH3,upstream_gene_variant,,ENST00000293349,;CTD-3193K9.3,downstream_gene_variant,,ENST00000592440,;CTD-3193K9.4,upstream_gene_variant,,ENST00000593139,;PLEKHH3,upstream_gene_variant,,ENST00000591544,;PLEKHH3,upstream_gene_variant,,ENST00000456950,;PLEKHH3,upstream_gene_variant,,ENST00000591196,;CNTNAP1,upstream_gene_variant,,ENST00000591662,;PLEKHH3,upstream_gene_variant,,ENST00000591490,;	973	47	48	SUCCESS
KIF2B	84643	.	GRCh37	17	51901222	51901222	+	synonymous_variant	Silent	SNP	C	C	T	rs1417694993	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	98	0	ENST00000268919.4:c.828C>T	p.Asn276=	p.N276=	ENST00000268919	NM_032559.4	276	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS32685.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAACGAGTT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,synonymous_variant,p.%3D,ENST00000268919,;	984	98	100	SUCCESS
MTMR4	9110	.	GRCh37	17	56586080	56586080	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753802031	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	73	0	ENST00000323456.5:c.416T>C	p.Leu139Pro	p.L139P	ENST00000323456	NM_004687.4	139	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11608.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCAGCCCC	NONE	.	.	hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602	.	.	ENSP00000325285	.	6/19	.	.	.	.	.	.	.	.	rs753802031	6/19	nonpreferredpair	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.04)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Leu153Pro,ENST00000583656,;MTMR4,missense_variant,p.Leu139Pro,ENST00000323456,;MTMR4,missense_variant,p.Leu139Pro,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583243,;MTMR4,downstream_gene_variant,,ENST00000579921,;MTMR4,non_coding_transcript_exon_variant,,ENST00000583966,;MTMR4,non_coding_transcript_exon_variant,,ENST00000580983,;MTMR4,intron_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000582390,;	541	73	81	SUCCESS
ENGASE	64772	.	GRCh37	17	77075681	77075681	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	135	0	ENST00000579016.1:c.527G>C	p.Trp176Ser	p.W176S	ENST00000579016	NM_001042573.2	176	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS42394.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGGACCA	NONE	.	.	Pfam_domain:PF03644,hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.Trp176Ser,ENST00000579016,;ENGASE,missense_variant,p.Trp135Ser,ENST00000311595,;ENGASE,intron_variant,,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,intron_variant,,ENST00000578419,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,upstream_gene_variant,,ENST00000583041,;ENGASE,upstream_gene_variant,,ENST00000577783,;ENGASE,upstream_gene_variant,,ENST00000300682,;ENGASE,upstream_gene_variant,,ENST00000583646,;	527	135	106	SUCCESS
SLC38A10	124565	.	GRCh37	17	79234066	79234066	+	synonymous_variant	Silent	SNP	C	C	T	rs1567931578	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	69	0	ENST00000374759.3:c.1260G>A	p.Leu420=	p.L420=	ENST00000374759	NM_001037984.1	420	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42397.1	1260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCAAACC	NONE	.	.	.	.	.	ENSP00000363891	.	11/16	.	.	.	.	.	.	.	.	.	11/16	nonpreferredpair	ENST00000374759	Transcript	.	.	ENSG00000157637	28237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S38AA_HUMAN	SLC38A10	HGNC	F5H3T4_HUMAN	.	UPI000066DA6A	SNV	SLC38A10,synonymous_variant,p.%3D,ENST00000374759,;SLC38A10,synonymous_variant,p.%3D,ENST00000288439,;SLC38A10,downstream_gene_variant,,ENST00000546352,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000542075,;	1644	69	44	SUCCESS
MC5R	4161	.	GRCh37	18	13826628	13826628	+	synonymous_variant	Silent	SNP	C	C	T	rs142287236	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	37	318	0	ENST00000324750.3:c.864C>T	p.Ser288=	p.S288=	ENST00000324750	NM_005913.2	288	tcC/tcT	0	T:0.002	T:0.0015	.	T:0.0014	.	T	S	protein_coding	YES	CCDS11868.1	864	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCGTGAT	SITE|p.S288S|c.864C>T|3	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	T:0	T:0	ENSP00000318077	T:0	1/1	.	.	.	.	.	.	.	.	rs142287236,COSM1494060	1/1	nonpreferredpair	ENST00000324750	Transcript	.	T:0.0006	ENSG00000176136	6933	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	T:0	.	0,1	MC5R_HUMAN	MC5R	HGNC	K7ER30_HUMAN	.	UPI0000050405	SNV	MC5R,synonymous_variant,p.%3D,ENST00000324750,;MC5R,downstream_gene_variant,,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	1086	318	271	SUCCESS
MEP1B	4225	.	GRCh37	18	29790544	29790544	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1334949015	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	65	0	ENST00000269202.6:c.1000C>A	p.Pro334Thr	p.P334T	ENST00000269202	NM_005925.2	334	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS45846.1	1000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACCCTAAA	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR10127:SF312,hmmpanther:PTHR10127,PROSITE_patterns:PS00740,Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000269202	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	SNV	MEP1B,missense_variant,p.Pro334Thr,ENST00000269202,;MEP1B,missense_variant,p.Pro334Thr,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;	1047	65	55	SUCCESS
SLC1A6	6511	.	GRCh37	19	15067448	15067448	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	94	0	ENST00000221742.3:c.1009G>A	p.Gly337Ser	p.G337S	ENST00000221742	NM_005071.2	337	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12321.1	1009	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCCCCCA	BUFFER|p.V334I|c.1000G>A|3	.	.	hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	.	.	ENSP00000221742	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.24)	.	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,missense_variant,p.Gly337Ser,ENST00000221742,;SLC1A6,missense_variant,p.Gly273Ser,ENST00000430939,;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000544886,;SLC1A6,downstream_gene_variant,,ENST00000598504,;	1017	94	77	SUCCESS
TEX101	83639	.	GRCh37	19	43920080	43920080	+	synonymous_variant	Silent	SNP	C	C	T	rs149972012	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	61	149	0	ENST00000598265.1:c.9C>T	p.Thr3=	p.T3=	ENST00000598265	NM_001130011.1	3	acC/acT	0	T:0.0011	.	.	.	.	T	T	protein_coding	YES	CCDS12619.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCCCTCG	NONE	byCluster	.	hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF3	.	T:0	ENSP00000472308	.	4/8	.	.	.	.	.	.	.	.	rs149972012	4/8	nonpreferredpair	ENST00000602198	Transcript	.	.	ENSG00000131126	30722	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TX101_HUMAN	TEX101	HGNC	.	.	UPI000013CDD3	SNV	TEX101,synonymous_variant,p.%3D,ENST00000602198,;TEX101,synonymous_variant,p.%3D,ENST00000253435,;TEX101,synonymous_variant,p.%3D,ENST00000598265,;TEX101,non_coding_transcript_exon_variant,,ENST00000601707,;	505	149	143	SUCCESS
NLRP5	126206	.	GRCh37	19	56565030	56565030	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778328871	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	17	125	0	ENST00000390649.3:c.3155C>T	p.Ala1052Val	p.A1052V	ENST00000390649	NM_153447.4	1052	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12938.1	3155	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGCGTGCT	CODON|p.A1052T|c.3154G>A|3	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000375063	.	13/15	.	.	.	.	.	.	.	.	rs778328871,COSM3835872	13/15	nonpreferredpair	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.078)	.	tolerated(0.11)	0,1	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,missense_variant,p.Ala1052Val,ENST00000390649,;	3155	125	129	SUCCESS
TRAPPC5	126003	.	GRCh37	19	7747540	7747540	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762880432	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	65	0	ENST00000317378.5:c.401A>G	p.Asn134Ser	p.N134S	ENST00000317378	NM_174894.2	134	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42490.1	401	MUTECT|MUSE|VARSCANS	.	GGAGAACAGCA	NONE	.	.	hmmpanther:PTHR20902,hmmpanther:PTHR20902:SF0,Gene3D:3.30.1380.20,Pfam_domain:PF04051,PIRSF_domain:PIRSF017479,Superfamily_domains:SSF111126	.	.	ENSP00000316990	.	2/2	.	.	.	.	.	.	.	.	rs762880432	2/2	nonpreferredpair	ENST00000317378	Transcript	.	.	ENSG00000181029	23067	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.06)	.	TPPC5_HUMAN	TRAPPC5	HGNC	.	.	UPI0000074724	SNV	TRAPPC5,missense_variant,p.Asn67Ser,ENST00000595985,;TRAPPC5,missense_variant,p.Asn134Ser,ENST00000426877,;TRAPPC5,missense_variant,p.Asn134Ser,ENST00000317378,;TRAPPC5,missense_variant,p.Asn134Ser,ENST00000596148,;CTD-3214H19.16,3_prime_UTR_variant,,ENST00000597959,;C19orf59,downstream_gene_variant,,ENST00000333598,;C19orf59,downstream_gene_variant,,ENST00000597445,;C19orf59,downstream_gene_variant,,ENST00000598851,;	588	65	33	SUCCESS
AKNAD1	254268	.	GRCh37	1	109394791	109394791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	255	12	313	0	ENST00000370001.3:c.496C>T	p.Pro166Ser	p.P166S	ENST00000370001	NM_152763.4	166	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS791.2	496	MUTECT|MUSE	.	TTCTGGGGTTT	NONE	.	.	hmmpanther:PTHR21510:SF14,hmmpanther:PTHR21510	.	.	ENSP00000359018	.	2/16	.	.	.	.	.	.	.	.	.	2/16	nonpreferredpair	ENST00000370001	Transcript	.	.	ENSG00000162641	28398	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.43)	.	AKND1_HUMAN	AKNAD1	HGNC	.	.	UPI00004700A0	SNV	AKNAD1,missense_variant,p.Pro166Ser,ENST00000369995,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000369994,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000370001,;AKNAD1,intron_variant,,ENST00000357393,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000472781,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000461774,;AKNAD1,missense_variant,p.Pro166Ser,ENST00000474186,;	765	313	268	SUCCESS
TDRKH	11022	.	GRCh37	1	151751633	151751633	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	376	64	326	0	ENST00000368822.1:c.507A>G	p.Leu169=	p.L169=	ENST00000368822		169	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS41394.1	507	RADIA|MUTECT|MUSE|VARSCANS	.	GATAGTAGTAA	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR22948:SF13,hmmpanther:PTHR22948,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000357812	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000368822	Transcript	.	.	ENSG00000182134	11713	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDRKH_HUMAN	TDRKH	HGNC	Q9NYV3_HUMAN,E9PKN8_HUMAN,B4DJ68_HUMAN	.	UPI0000204267	SNV	TDRKH,synonymous_variant,p.%3D,ENST00000368827,;TDRKH,synonymous_variant,p.%3D,ENST00000368823,;TDRKH,synonymous_variant,p.%3D,ENST00000368824,;TDRKH,synonymous_variant,p.%3D,ENST00000458431,;TDRKH,synonymous_variant,p.%3D,ENST00000368822,;TDRKH,synonymous_variant,p.%3D,ENST00000368825,;TDRKH,5_prime_UTR_variant,,ENST00000440583,;TDRKH,downstream_gene_variant,,ENST00000526378,;TDRKH,non_coding_transcript_exon_variant,,ENST00000484421,;TDRKH,missense_variant,p.Tyr136Cys,ENST00000525790,;TDRKH,missense_variant,p.Tyr136Cys,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000530202,;TDRKH,downstream_gene_variant,,ENST00000463553,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000486986,;	1141	327	440	SUCCESS
ADAR	103	.	GRCh37	1	154560696	154560696	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751760623	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	8	103	0	ENST00000368474.4:c.2924C>T	p.Ser975Phe	p.S975F	ENST00000368474	NM_001111.4	975	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS1071.1	2924	MUTECT|MUSE	.	TGCAGGACTTG	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000357459	.	11/15	.	.	.	.	.	.	.	.	rs751760623	11/15	nonpreferredpair	ENST00000368474	Transcript	.	.	ENSG00000160710	225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	DSRAD_HUMAN	ADAR	HGNC	.	.	UPI000045626B	SNV	ADAR,missense_variant,p.Ser1018Phe,ENST00000292205,;ADAR,missense_variant,p.Ser944Phe,ENST00000529168,;ADAR,missense_variant,p.Ser680Phe,ENST00000368471,;ADAR,missense_variant,p.Ser975Phe,ENST00000368474,;ADAR,non_coding_transcript_exon_variant,,ENST00000530954,;ADAR,non_coding_transcript_exon_variant,,ENST00000534279,;ADAR,upstream_gene_variant,,ENST00000492630,;	3124	103	139	SUCCESS
KLHDC7A	127707	.	GRCh37	1	18809370	18809370	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745970080	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	50	0	ENST00000400664.1:c.1895G>A	p.Arg632His	p.R632H	ENST00000400664	NM_152375.2	632	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS185.2	1895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGTGCCA	BUFFER|p.E635K|c.1903G>A|6	.	.	hmmpanther:PTHR24412:SF144,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000383505	.	1/1	.	.	.	.	.	.	.	.	rs745970080	1/1	nonpreferredpair	ENST00000400664	Transcript	.	.	ENSG00000179023	26791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	KLD7A_HUMAN	KLHDC7A	HGNC	A4FU39_HUMAN	.	UPI0000E0501F	SNV	KLHDC7A,missense_variant,p.Arg632His,ENST00000400664,;	1947	50	34	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232650005	232650005	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	44	59	0	ENST00000262861.4:c.1081G>T	p.Ala361Ser	p.A361S	ENST00000262861	NM_020808.3	361	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41474.1	1081	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCCCCAG	NONE	.	.	hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	2/22	.	.	.	.	.	.	.	.	.	2/22	nonpreferredpair	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Ala361Ser,ENST00000366630,;SIPA1L2,missense_variant,p.Ala361Ser,ENST00000262861,;	1440	59	66	SUCCESS
OR2W5	0	.	GRCh37	1	247654704	247654704	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	117	0	ENST00000530852.2:n.335T>A		p.*112*	ENST00000530852				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE|VARSCANS	.	GACCATCACCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000530852	Transcript	.	.	ENSG00000203664	15424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OR2W5	HGNC	.	.	.	SNV	OR2W5,non_coding_transcript_exon_variant,,ENST00000522351,;OR2W5,non_coding_transcript_exon_variant,,ENST00000530852,;OR2W5,non_coding_transcript_exon_variant,,ENST00000366492,;	335	118	137	SUCCESS
SH3BP5L	80851	.	GRCh37	1	249106273	249106273	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	51	0	ENST00000366472.5:c.1008G>C	p.Leu336=	p.L336=	ENST00000366472	NM_030645.1	336	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS31126.1	1008	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19423	.	.	ENSP00000355428	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000366472	Transcript	.	.	ENSG00000175137	29360	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	3BP5L_HUMAN	SH3BP5L	HGNC	Q96MW4_HUMAN,Q96ET3_HUMAN	.	UPI000003F53A	SNV	SH3BP5L,synonymous_variant,p.%3D,ENST00000411742,;SH3BP5L,synonymous_variant,p.%3D,ENST00000366472,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000475978,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000484202,;SH3BP5L,downstream_gene_variant,,ENST00000494837,;	2238	51	72	SUCCESS
ZNF362	149076	.	GRCh37	1	33741722	33741722	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755462638	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	77	0	ENST00000373428.5:c.60C>G	p.Asn20Lys	p.N20K	ENST00000373428		20	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS377.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAACAACCC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF454	.	.	ENSP00000446335	.	3/9	.	.	.	.	.	.	.	.	rs755462638	3/9	nonpreferredpair	ENST00000539719	Transcript	.	.	ENSG00000160094	18079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZN362_HUMAN	ZNF362	HGNC	F5H055_HUMAN	.	UPI000013E046	SNV	ZNF362,missense_variant,p.Asn20Lys,ENST00000373428,;ZNF362,missense_variant,p.Asn7Lys,ENST00000483388,;ZNF362,missense_variant,p.Asn20Lys,ENST00000539719,;ZNF362,downstream_gene_variant,,ENST00000490959,;ZNF362,upstream_gene_variant,,ENST00000477934,;	230	77	30	SUCCESS
KANK4	163782	.	GRCh37	1	62739084	62739084	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	19	173	0	ENST00000371153.4:c.1692G>T	p.Val564=	p.V564=	ENST00000371153	NM_181712.4	564	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS620.1	1692	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCACATA	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20	.	.	ENSP00000360195	.	3/10	.	.	.	.	.	.	.	.	.	3/10	nonpreferredpair	ENST00000371153	Transcript	.	.	ENSG00000132854	27263	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KANK4_HUMAN	KANK4	HGNC	B1ALP6_HUMAN,B1ALP5_HUMAN	.	UPI000022AE73	SNV	KANK4,synonymous_variant,p.%3D,ENST00000371153,;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;	2071	173	131	SUCCESS
DOCK7	85440	.	GRCh37	1	62995054	62995054	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	13	142	0	ENST00000340370.5:c.3582A>C	p.Ser1194=	p.S1194=	ENST00000340370	NM_033407.3	1194	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30734.1	3582	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCTGAGTC	NONE	.	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	29/49	.	.	.	.	.	.	.	.	.	29/49	nonpreferredpair	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,synonymous_variant,p.%3D,ENST00000251157,;DOCK7,synonymous_variant,p.%3D,ENST00000340370,;DOCK7,synonymous_variant,p.%3D,ENST00000454575,;RP11-293K19.1,upstream_gene_variant,,ENST00000604867,;	3600	142	113	SUCCESS
JAK1	3716	.	GRCh37	1	65307245	65307245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	208	0	ENST00000342505.4:c.2443C>T	p.Pro815Ser	p.P815S	ENST00000342505	NM_002227.2	815	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41346.1	2443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGTGTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	18/25	.	.	.	.	.	.	.	.	.	18/25	nonpreferredpair	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.03)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Pro815Ser,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000481702,;JAK1,downstream_gene_variant,,ENST00000471473,;	2692	208	128	SUCCESS
SPTLC3	55304	.	GRCh37	20	13071736	13071736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	165	0	ENST00000399002.2:c.613T>A	p.Leu205Met	p.L205M	ENST00000399002	NM_018327.2	205	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS13115.2	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTTGGAT	NONE	.	.	hmmpanther:PTHR13693:SF56,hmmpanther:PTHR13693,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000381968	.	5/12	.	.	.	.	.	.	.	.	.	5/12	nonpreferredpair	ENST00000399002	Transcript	.	.	ENSG00000172296	16253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	tolerated(0.13)	.	SPTC3_HUMAN	SPTLC3	HGNC	Q8N2H1_HUMAN,B1AKS2_HUMAN	.	UPI0000D6BFB5	SNV	SPTLC3,missense_variant,p.Leu205Met,ENST00000399002,;SPTLC3,missense_variant,p.Leu205Met,ENST00000378194,;	887	165	144	SUCCESS
OPRL1	4987	.	GRCh37	20	62729930	62729930	+	synonymous_variant	Silent	SNP	C	C	T	rs764583670	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	117	0	ENST00000336866.2:c.891C>T	p.Ala297=	p.A297=	ENST00000336866	NM_182647.2	297	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13556.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCGTGGC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF11,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00547	.	.	ENSP00000336764	.	6/6	.	.	.	.	.	.	.	.	rs764583670	6/6	nonpreferredpair	ENST00000349451	Transcript	.	.	ENSG00000125510	8155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPRX_HUMAN	OPRL1	HGNC	.	.	UPI0000001C6D	SNV	OPRL1,synonymous_variant,p.%3D,ENST00000336866,;OPRL1,synonymous_variant,p.%3D,ENST00000355631,;OPRL1,synonymous_variant,p.%3D,ENST00000349451,;	1303	117	78	SUCCESS
CXADR	1525	.	GRCh37	21	18933790	18933790	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768582795	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	10	213	0	ENST00000284878.7:c.829A>G	p.Ile277Val	p.I277V	ENST00000284878	NM_001338.4	277	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33519.1	829	MUTECT|MUSE	.	ACGATATCAGG	NONE	.	.	hmmpanther:PTHR12231:SF9,hmmpanther:PTHR12231	.	.	ENSP00000284878	.	6/7	.	.	.	.	.	.	.	.	rs768582795	6/7	nonpreferredpair	ENST00000284878	Transcript	.	.	ENSG00000154639	2559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.78)	.	deleterious(0.01)	.	CXAR_HUMAN	CXADR	HGNC	.	.	UPI000004F892	SNV	CXADR,missense_variant,p.Ile236Val,ENST00000306618,;CXADR,missense_variant,p.Ile277Val,ENST00000400169,;CXADR,missense_variant,p.Ile277Val,ENST00000284878,;CXADR,intron_variant,,ENST00000356275,;CXADR,intron_variant,,ENST00000400166,;CXADR,intron_variant,,ENST00000400165,;	1577	213	168	SUCCESS
KRTAP26-1	388818	.	GRCh37	21	31692292	31692292	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	128	0	ENST00000360542.3:c.62A>C	p.His21Pro	p.H21P	ENST00000360542	NM_203405.1	21	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS13588.1	62	RADIA|MUTECT|MUSE|VARSCANS	.	GAATATGGCGG	NONE	.	.	hmmpanther:PTHR19051:SF11,hmmpanther:PTHR19051,Pfam_domain:PF05287	.	.	ENSP00000353742	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000360542	Transcript	.	.	ENSG00000197683	33760	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.477)	.	deleterious(0.02)	.	KR261_HUMAN	KRTAP26-1	HGNC	.	.	UPI00001CE052	SNV	KRTAP26-1,missense_variant,p.His21Pro,ENST00000360542,;	316	128	101	SUCCESS
ADARB1	104	.	GRCh37	21	46595710	46595710	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	41	0	ENST00000360697.3:c.94A>G	p.Thr32Ala	p.T32A	ENST00000360697		32	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33589.1	94	RADIA|VARSCANS	.	GCAGCACACCT	NONE	.	.	hmmpanther:PTHR10910:SF58,hmmpanther:PTHR10910	.	.	ENSP00000441897	.	4/12	.	.	.	.	.	.	.	.	.	4/12	nonpreferredpair	ENST00000539173	Transcript	.	.	ENSG00000197381	226	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.94)	.	RED1_HUMAN	ADARB1	HGNC	C9JUP4_HUMAN	.	UPI0000133622	SNV	ADARB1,missense_variant,p.Thr32Ala,ENST00000539173,;ADARB1,missense_variant,p.Thr32Ala,ENST00000389863,;ADARB1,missense_variant,p.Thr32Ala,ENST00000449478,;ADARB1,missense_variant,p.Thr32Ala,ENST00000348831,;ADARB1,missense_variant,p.Thr32Ala,ENST00000360697,;ADARB1,intron_variant,,ENST00000437626,;ADARB1,downstream_gene_variant,,ENST00000464215,;ADARB1,upstream_gene_variant,,ENST00000481022,;ADARB1,missense_variant,p.Thr60Ala,ENST00000389861,;ADARB1,missense_variant,p.Thr32Ala,ENST00000496664,;ADARB1,missense_variant,p.Thr32Ala,ENST00000492414,;	529	41	33	SUCCESS
SEZ6L	23544	.	GRCh37	22	26771552	26771552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	69	0	ENST00000248933.6:c.2839G>T	p.Ala947Ser	p.A947S	ENST00000248933		947	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS13833.1	2839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81	.	.	ENSP00000248933	.	15/17	.	.	.	.	.	.	.	.	.	15/17	nonpreferredpair	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.17)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Ala936Ser,ENST00000529632,;SEZ6L,missense_variant,p.Ala947Ser,ENST00000248933,;SEZ6L,missense_variant,p.Ala872Ser,ENST00000360929,;SEZ6L,missense_variant,p.Ala643Ser,ENST00000403121,;SEZ6L,missense_variant,p.Ala946Ser,ENST00000404234,;SEZ6L,missense_variant,p.Ala871Ser,ENST00000343706,;SEZ6L,missense_variant,p.Ala719Ser,ENST00000402979,;SEZ6L,intron_variant,,ENST00000411842,;SEZ6L,non_coding_transcript_exon_variant,,ENST00000494013,;	2934	69	59	SUCCESS
HMGXB4	10042	.	GRCh37	22	35661108	35661108	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	131	0	ENST00000216106.5:c.727A>G	p.Ser243Gly	p.S243G	ENST00000216106	NM_001003681.2	243	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS33641.1	727	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGAGCTTT	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169	.	.	ENSP00000216106	.	5/11	.	.	.	.	.	.	.	.	.	5/11	nonpreferredpair	ENST00000216106	Transcript	.	.	ENSG00000100281	5003	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.12)	.	HMGX4_HUMAN	HMGXB4	HGNC	Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN	.	UPI00003765B4	SNV	HMGXB4,missense_variant,p.Ser134Gly,ENST00000444518,;HMGXB4,missense_variant,p.Ser134Gly,ENST00000455359,;HMGXB4,missense_variant,p.Ser243Gly,ENST00000216106,;HMGXB4,missense_variant,p.Ser134Gly,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000464480,;HMGXB4,downstream_gene_variant,,ENST00000498325,;	855	131	115	SUCCESS
FIGN	55137	.	GRCh37	2	164467698	164467698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	43	174	0	ENST00000333129.3:c.644A>G	p.His215Arg	p.H215R	ENST00000333129	NM_018086.2	215	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2221.2	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTATGCAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	.	.	ENSP00000333836	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000333129	Transcript	.	.	ENSG00000182263	13285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.14)	.	FIGN_HUMAN	FIGN	HGNC	.	.	UPI000022BD13	SNV	FIGN,missense_variant,p.His215Arg,ENST00000333129,;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	959	175	153	SUCCESS
MYO3B	140469	.	GRCh37	2	171034778	171034778	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs1193967873	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	307	27	345	0	ENST00000408978.4:c.-20A>G		p.*7*	ENST00000408978	NM_138995.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42773.1	.	MUTECT|MUSE|VARSCANS	.	GCCGGATTCAG	NONE	.	.	.	.	.	ENSP00000386213	.	1/35	.	.	.	.	.	.	.	.	.	1/35	nonpreferredpair	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,5_prime_UTR_variant,,ENST00000408978,;MYO3B,5_prime_UTR_variant,,ENST00000409044,;MYO3B,upstream_gene_variant,,ENST00000484338,;MYO3B,upstream_gene_variant,,ENST00000334231,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,5_prime_UTR_variant,,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	124	345	334	SUCCESS
HTR2B	3357	.	GRCh37	2	231973880	231973880	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770427725	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	178	0	ENST00000258400.3:c.797C>T	p.Thr266Ile	p.T266I	ENST00000258400	NM_000867.4	266	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2483.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGTAGAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF31,Pfam_domain:PF00001	.	.	ENSP00000258400	.	4/4	.	.	.	.	.	.	.	.	rs770427725	4/4	nonpreferredpair	ENST00000258400	Transcript	.	.	ENSG00000135914	5294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	5HT2B_HUMAN	HTR2B	HGNC	B3VRD5_HUMAN,B3VRD0_HUMAN,B3VRC5_HUMAN	.	UPI0000001C05	SNV	HTR2B,missense_variant,p.Thr266Ile,ENST00000258400,;PSMD1,intron_variant,,ENST00000409643,;PSMD1,intron_variant,,ENST00000373635,;PSMD1,intron_variant,,ENST00000447633,;PSMD1,intron_variant,,ENST00000308696,;PSMD1,downstream_gene_variant,,ENST00000488354,;PSMD1,intron_variant,,ENST00000431051,;	1310	178	140	SUCCESS
ASXL2	55252	.	GRCh37	2	25965337	25965337	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	7	161	0	ENST00000435504.4:c.3869G>C	p.Ser1290Thr	p.S1290T	ENST00000435504		1290	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	.	3869	MUTECT|MUSE	.	TAGAACTGAAA	NONE	.	.	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.24)	.	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Ser773Thr,ENST00000272341,;ASXL2,missense_variant,p.Ser1262Thr,ENST00000336112,;ASXL2,missense_variant,p.Ser773Thr,ENST00000404843,;ASXL2,missense_variant,p.Ser1290Thr,ENST00000435504,;	4163	161	117	SUCCESS
SLC30A6	55676	.	GRCh37	2	32399138	32399138	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	96	288	0	ENST00000282587.5:c.97A>G	p.Lys33Glu	p.K33E	ENST00000282587	NM_017964.3	33	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS54341.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGAAGATA	NONE	.	.	hmmpanther:PTHR11562:SF27,hmmpanther:PTHR11562	.	.	ENSP00000368648	.	3/15	.	.	.	.	.	.	.	.	.	3/15	nonpreferredpair	ENST00000379343	Transcript	.	.	ENSG00000152683	19305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.09)	.	ZNT6_HUMAN	SLC30A6	HGNC	B5MCR8_HUMAN,B3KU87_HUMAN	.	UPI0000D61182	SNV	SLC30A6,missense_variant,p.Lys4Glu,ENST00000538303,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000379343,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000435660,;SLC30A6,missense_variant,p.Lys4Glu,ENST00000440718,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000282587,;SLC30A6,5_prime_UTR_variant,,ENST00000357055,;SLC30A6,intron_variant,,ENST00000406369,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000457724,;SLC30A6,missense_variant,p.Lys33Glu,ENST00000454324,;SLC30A6,intron_variant,,ENST00000449777,;	134	288	258	SUCCESS
SERTAD2	9792	.	GRCh37	2	64863856	64863856	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	20	190	0	ENST00000313349.3:c.150C>T	p.Asn50=	p.N50=	ENST00000313349	NM_014755.2	50	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS33210.1	150	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGTTATA	NONE	.	.	PROSITE_profiles:PS51053,hmmpanther:PTHR16277,hmmpanther:PTHR16277:SF10,Pfam_domain:PF06031	.	.	ENSP00000326933	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000313349	Transcript	.	.	ENSG00000179833	30784	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRTD2_HUMAN	SERTAD2	HGNC	.	.	UPI000004EC6D	SNV	SERTAD2,synonymous_variant,p.%3D,ENST00000313349,;SERTAD2,non_coding_transcript_exon_variant,,ENST00000476805,;	448	190	189	SUCCESS
IQCB1	9657	.	GRCh37	3	121527778	121527778	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	93	238	0	ENST00000310864.6:c.472G>T	p.Glu158Ter	p.E158*	ENST00000310864	NM_001023570.2	158	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS33837.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCAACAT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR15673,hmmpanther:PTHR15673:SF1	.	.	ENSP00000311505	.	6/15	.	.	.	.	.	.	.	.	.	6/15	nonpreferredpair	ENST00000310864	Transcript	.	.	ENSG00000173226	28949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQCB1_HUMAN	IQCB1	HGNC	C9JXD7_HUMAN,C9JVC4_HUMAN,C9J6Z7_HUMAN	.	UPI0000139154	SNV	IQCB1,stop_gained,p.Glu158Ter,ENST00000349820,;IQCB1,stop_gained,p.Glu158Ter,ENST00000310864,;IQCB1,5_prime_UTR_variant,,ENST00000460108,;IQCB1,intron_variant,,ENST00000498104,;IQCB1,stop_gained,p.Glu158Ter,ENST00000393650,;	687	239	247	SUCCESS
HSPBAP1	79663	.	GRCh37	3	122512567	122512567	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	53	0	ENST00000306103.2:c.-40C>T		p.*14*	ENST00000306103	NM_024610.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3017.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGAGCGGAG	NONE	.	.	.	.	.	ENSP00000302562	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000306103	Transcript	.	.	ENSG00000169087	16389	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBAP1_HUMAN	HSPBAP1	HGNC	Q9H641_HUMAN	.	UPI00000715E9	SNV	HSPBAP1,5_prime_UTR_variant,,ENST00000383659,;HSPBAP1,5_prime_UTR_variant,,ENST00000306103,;DIRC2,upstream_gene_variant,,ENST00000261038,;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000467643,;HSPBAP1,upstream_gene_variant,,ENST00000465044,;HSPBAP1,upstream_gene_variant,,ENST00000478601,;DIRC2,upstream_gene_variant,,ENST00000477647,;	105	53	38	SUCCESS
COL6A5	256076	.	GRCh37	3	130174346	130174346	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	30	259	0	ENST00000312481.7:c.6626T>C	p.Ile2209Thr	p.I2209T	ENST00000312481		2209	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	.	6626	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATTGGCC	BUFFER|p.E251*|c.751G>T|3,BUFFER|p.E2212*|c.6634G>T|3	.	.	.	.	.	ENSP00000265379	.	37/42	.	.	.	.	.	.	.	.	.	37/42	nonpreferredpair	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.11)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Ile2209Thr,ENST00000432398,;COL6A5,missense_variant,p.Ile461Thr,ENST00000512836,;COL6A5,missense_variant,p.Ile44Thr,ENST00000512482,;COL6A5,missense_variant,p.Ile152Thr,ENST00000373157,;COL6A5,missense_variant,p.Ile2209Thr,ENST00000265379,;COL6A5,missense_variant,p.Ile2209Thr,ENST00000312481,;	7120	259	227	SUCCESS
TBCCD1	55171	.	GRCh37	3	186272765	186272765	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751945370	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	10	156	0	ENST00000338733.5:c.968G>A	p.Ser323Asn	p.S323N	ENST00000338733	NM_018138.3	323	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS3276.1	968	MUTECT|MUSE	.	CTGAGCTCTTA	NONE	byFrequency	.	PROSITE_profiles:PS51329,hmmpanther:PTHR16052,Gene3D:2.160.20.70	.	.	ENSP00000411253	.	5/8	.	.	.	.	.	.	.	.	rs751945370	5/8	nonpreferredpair	ENST00000424280	Transcript	.	.	ENSG00000113838	25546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.735)	.	deleterious(0.01)	.	TBCC1_HUMAN	TBCCD1	HGNC	C9J4M0_HUMAN	.	UPI0000073055	SNV	TBCCD1,missense_variant,p.Ser323Asn,ENST00000338733,;TBCCD1,missense_variant,p.Ser227Asn,ENST00000446782,;TBCCD1,missense_variant,p.Ser323Asn,ENST00000424280,;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;	1448	156	133	SUCCESS
LRRC3B	116135	.	GRCh37	3	26751740	26751740	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	9	162	0	ENST00000396641.2:c.577G>T	p.Asp193Tyr	p.D193Y	ENST00000396641	NM_052953.2	193	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2644.1	577	MUTECT|MUSE	.	ACGCTGACCTT	NONE	.	.	hmmpanther:PTHR24365:SF134,hmmpanther:PTHR24365	.	.	ENSP00000379880	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000396641	Transcript	.	.	ENSG00000179796	28105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRC3B_HUMAN	LRRC3B	HGNC	C9JMC7_HUMAN,C9J6A1_HUMAN	.	UPI000000D990	SNV	LRRC3B,missense_variant,p.Asp193Tyr,ENST00000396641,;LRRC3B,missense_variant,p.Asp193Tyr,ENST00000456208,;LRRC3B,missense_variant,p.Asp193Tyr,ENST00000417744,;LRRC3B,downstream_gene_variant,,ENST00000414619,;LRRC3B,downstream_gene_variant,,ENST00000432040,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	1169	162	132	SUCCESS
ALS2CL	259173	.	GRCh37	3	46722798	46722798	+	synonymous_variant	Silent	SNP	C	C	T	rs1050047506	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	183	0	ENST00000318962.4:c.1374G>A	p.Arg458=	p.R458=	ENST00000318962	NM_147129.3	458	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2743.1	1374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTACCTGAA	NONE	.	.	Superfamily_domains:0038399,SMART_domains:SM00698,Gene3D:1h3iA01,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114	.	.	ENSP00000313670	.	13/26	.	.	.	.	.	.	.	.	.	13/26	nonpreferredpair	ENST00000318962	Transcript	.	.	ENSG00000178038	20605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL2CL_HUMAN	ALS2CL	HGNC	G3V0I7_HUMAN	.	UPI00001B5641	SNV	ALS2CL,synonymous_variant,p.%3D,ENST00000318962,;ALS2CL,synonymous_variant,p.%3D,ENST00000415953,;ALS2CL,upstream_gene_variant,,ENST00000383742,;ALS2CL,missense_variant,p.Gly450Asp,ENST00000431015,;ALS2CL,missense_variant,p.Gly457Asp,ENST00000434140,;ALS2CL,synonymous_variant,p.%3D,ENST00000450172,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,upstream_gene_variant,,ENST00000486301,;	1458	183	129	SUCCESS
NBEAL2	23218	.	GRCh37	3	47043918	47043918	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	131	0	ENST00000450053.3:c.5209A>T	p.Met1737Leu	p.M1737L	ENST00000450053	NM_015175.2	1737	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS46817.1	5209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTATGTCA	NONE	.	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	.	ENSP00000415034	.	32/54	.	.	.	.	.	.	.	.	.	32/54	nonpreferredpair	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	deleterious(0.01)	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Met1737Leu,ENST00000450053,;NBEAL2,missense_variant,p.Met1553Leu,ENST00000292309,;NBEAL2,missense_variant,p.Met1025Leu,ENST00000416683,;NBEAL2,missense_variant,p.Met16Leu,ENST00000383740,;NBEAL2,missense_variant,p.Met106Leu,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000477412,;	5388	131	84	SUCCESS
MGST2	4258	.	GRCh37	4	140587115	140587115	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	91	0	ENST00000265498.1:c.-59C>G		p.*20*	ENST00000265498	NM_002413.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTCAAAGT	NONE	.	.	.	.	.	ENSP00000265498	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000265498	Transcript	.	.	ENSG00000085871	7063	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGST2_HUMAN	MGST2	HGNC	.	.	UPI000000128A	SNV	MGST2,5_prime_UTR_variant,,ENST00000506797,;MGST2,5_prime_UTR_variant,,ENST00000265498,;MGST2,non_coding_transcript_exon_variant,,ENST00000515137,;MGST2,upstream_gene_variant,,ENST00000515067,;MGST2,upstream_gene_variant,,ENST00000503816,;MGST2,upstream_gene_variant,,ENST00000502587,;	194	91	59	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148802995	148802995	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs138388284	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	150	0	ENST00000336498.3:c.946G>T	p.Gly316Ter	p.G316*	ENST00000336498	NM_024605.3	316	Gga/Tga	0	A:0	.	.	.	.	T	G/*	protein_coding	YES	CCDS34075.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGGAGAG	NONE	byCluster	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	A:0.0002	ENSP00000336923	.	10/23	.	.	.	.	.	.	.	.	rs138388284	10/23	nonpreferredpair	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,stop_gained,p.Gly316Ter,ENST00000336498,;ARHGAP10,upstream_gene_variant,,ENST00000507661,;ARHGAP10,upstream_gene_variant,,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	1185	150	100	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148984403	148984403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	151	0	ENST00000336498.3:c.2132C>A	p.Pro711His	p.P711H	ENST00000336498	NM_024605.3	711	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS34075.1	2132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCTTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5	.	.	ENSP00000336923	.	21/23	.	.	.	.	.	.	.	.	.	21/23	nonpreferredpair	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.15)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Pro711His,ENST00000336498,;ARHGAP10,intron_variant,,ENST00000507661,;ARHGAP10,intron_variant,,ENST00000414545,;ARHGAP10,upstream_gene_variant,,ENST00000510076,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000513548,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	2371	151	119	SUCCESS
ACSL1	2180	.	GRCh37	4	185678997	185678997	+	synonymous_variant	Silent	SNP	C	C	T	rs375524934	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	158	0	ENST00000281455.2:c.1860G>A	p.Ser620=	p.S620=	ENST00000281455	NM_001995.2	620	tcG/tcA	0	T:0.0005	T:0.0008	.	T:0	.	T	S	protein_coding	YES	CCDS3839.1	1860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAACGACCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24096:SF167,hmmpanther:PTHR24096,Superfamily_domains:SSF56801	T:0	T:0	ENSP00000422607	T:0	19/21	.	.	.	.	.	.	.	.	rs375524934	19/21	nonpreferredpair	ENST00000515030	Transcript	.	T:0.0002	ENSG00000151726	3569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ACSL1_HUMAN	ACSL1	HGNC	B7Z3Z9_HUMAN	.	UPI000004AC12	SNV	ACSL1,synonymous_variant,p.%3D,ENST00000504342,;ACSL1,synonymous_variant,p.%3D,ENST00000515030,;ACSL1,synonymous_variant,p.%3D,ENST00000513317,;ACSL1,synonymous_variant,p.%3D,ENST00000507295,;ACSL1,synonymous_variant,p.%3D,ENST00000437665,;ACSL1,synonymous_variant,p.%3D,ENST00000454703,;ACSL1,synonymous_variant,p.%3D,ENST00000503407,;ACSL1,synonymous_variant,p.%3D,ENST00000281455,;ACSL1,3_prime_UTR_variant,,ENST00000506733,;ACSL1,non_coding_transcript_exon_variant,,ENST00000513001,;	2186	158	106	SUCCESS
SEPSECS	51091	.	GRCh37	4	25156728	25156728	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754956032	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	111	0	ENST00000382103.2:c.593T>C	p.Leu198Pro	p.L198P	ENST00000382103	NM_016955.3	198	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3432.2	593	RADIA|MUTECT|MUSE|VARSCANS	.	TACGCAGCTCG	NONE	byFrequency	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF017689,TIGRFAM_domain:TIGR03531,Pfam_domain:PF05889,Gene3D:3.40.640.10,hmmpanther:PTHR12944	.	.	ENSP00000371535	.	5/11	.	.	.	.	.	.	.	.	rs754956032	5/11	nonpreferredpair	ENST00000382103	Transcript	1	.	ENSG00000109618	30605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPCS_HUMAN	SEPSECS	HGNC	A1A4F3_HUMAN	.	UPI000020BDD0	SNV	SEPSECS,missense_variant,p.Leu119Pro,ENST00000302922,;SEPSECS,missense_variant,p.Leu198Pro,ENST00000382103,;SEPSECS,downstream_gene_variant,,ENST00000513285,;SEPSECS,missense_variant,p.Leu37Pro,ENST00000503150,;SEPSECS,3_prime_UTR_variant,,ENST00000358971,;SEPSECS,3_prime_UTR_variant,,ENST00000514585,;SEPSECS,non_coding_transcript_exon_variant,,ENST00000505513,;	666	111	88	SUCCESS
DMXL1	1657	.	GRCh37	5	118464996	118464996	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	83	263	0	ENST00000311085.8:c.1193A>C	p.Lys398Thr	p.K398T	ENST00000311085	NM_005509.4	398	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS4125.1	1193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATAAAGAAC	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	10/43	.	.	.	.	.	.	.	.	.	10/43	nonpreferredpair	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Lys398Thr,ENST00000539542,;DMXL1,missense_variant,p.Lys398Thr,ENST00000311085,;DMXL1,missense_variant,p.Lys398Thr,ENST00000503802,;DMXL1,non_coding_transcript_exon_variant,,ENST00000514151,;DMXL1,non_coding_transcript_exon_variant,,ENST00000504031,;DMXL1,upstream_gene_variant,,ENST00000512281,;LAMTOR3P2,downstream_gene_variant,,ENST00000504479,;RP11-950K24.2,upstream_gene_variant,,ENST00000513820,;	1273	263	322	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250200	140250200	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	9	123	0	ENST00000398640.2:c.1512G>A	p.Ser504=	p.S504=	ENST00000398640	NM_018902.3	504	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47284.1	1512	MUTECT|MUSE|VARSCANS	.	CTGTCGAGCTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,synonymous_variant,p.%3D,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA12,upstream_gene_variant,,ENST00000398631,;	1512	123	122	SUCCESS
KIF4B	285643	.	GRCh37	5	154394167	154394167	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	17	209	0	ENST00000435029.4:c.748A>C	p.Thr250Pro	p.T250P	ENST00000435029	NM_001099293.1	250	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS47324.1	748	MUTECT|MUSE	.	AGAAAACCAAG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF392,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000387875	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000435029	Transcript	.	.	ENSG00000226650	6322	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KIF4B_HUMAN	KIF4B	HGNC	.	.	UPI000013D5DB	SNV	KIF4B,missense_variant,p.Thr250Pro,ENST00000435029,;	908	210	243	SUCCESS
QRSL1	55278	.	GRCh37	6	107113765	107113765	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746261877	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	10	158	0	ENST00000369046.4:c.1475A>G	p.Lys492Arg	p.K492R	ENST00000369046	NM_018292.4	492	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5057.1	1475	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAAATGGT	NONE	.	.	HAMAP:MF_00120,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF7,TIGRFAM_domain:TIGR00132,Gene3D:3.90.1300.10,Superfamily_domains:SSF75304	.	.	ENSP00000358042	.	11/11	.	.	.	.	.	.	.	.	rs746261877	11/11	nonpreferredpair	ENST00000369046	Transcript	.	.	ENSG00000130348	21020	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.26)	.	GATA_HUMAN	QRSL1	HGNC	.	.	UPI0000047463	SNV	QRSL1,missense_variant,p.Lys492Arg,ENST00000369046,;	1579	158	105	SUCCESS
RSPH4A	345895	.	GRCh37	6	116950758	116950758	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	79	0	ENST00000229554.5:c.1697del	p.Asn566MetfsTer18	p.N566Mfs*18	ENST00000229554	NM_001010892.2	564	cAa/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS34521.1	1691	VARSCANI*|PINDEL	.	CCATACAAAAAA	NONE	.	.	hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF3,Pfam_domain:PF04712	.	.	ENSP00000229554	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000229554	Transcript	.	.	ENSG00000111834	21558	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSH4A_HUMAN	RSPH4A	HGNC	.	.	UPI00001D80C4	deletion	RSPH4A,frameshift_variant,p.Asn566MetfsTer18,ENST00000229554,;RSPH4A,frameshift_variant,p.Asn319MetfsTer18,ENST00000368580,;RSPH4A,intron_variant,,ENST00000368581,;	1828	79	49	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156943	26156943	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	46	100	0	ENST00000304218.3:c.325A>T	p.Lys109Ter	p.K109*	ENST00000304218	NM_005321.2	109	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4586.1	325	RADIA|MUTECT|MUSE	.	TCAACAAGAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,stop_gained,p.Lys109Ter,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	385	100	120	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156946	26156946	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	97	0	ENST00000304218.3:c.328A>T	p.Lys110Ter	p.K110*	ENST00000304218	NM_005321.2	110	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4586.1	328	RADIA|MUTECT|MUSE	.	ACAAGAAGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,stop_gained,p.Lys110Ter,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	388	97	117	SUCCESS
APOM	55937	.	GRCh37	6	31623826	31623826	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	172	0	ENST00000375916.3:c.83A>C	p.Gln28Pro	p.Q28P	ENST00000375916	NM_019101.2	28	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS4710.1	83	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCAACTGA	NONE	.	.	hmmpanther:PTHR32028,Pfam_domain:PF11032	.	.	ENSP00000365081	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000375916	Transcript	.	.	ENSG00000204444	13916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.43)	.	APOM_HUMAN	APOM	HGNC	.	.	UPI00000369DE	SNV	APOM,missense_variant,p.Gln28Pro,ENST00000375916,;APOM,intron_variant,,ENST00000375918,;APOM,intron_variant,,ENST00000375920,;BAG6,upstream_gene_variant,,ENST00000375976,;BAG6,upstream_gene_variant,,ENST00000424176,;BAG6,upstream_gene_variant,,ENST00000362049,;BAG6,upstream_gene_variant,,ENST00000435080,;BAG6,upstream_gene_variant,,ENST00000437771,;BAG6,upstream_gene_variant,,ENST00000375964,;BAG6,upstream_gene_variant,,ENST00000441054,;BAG6,upstream_gene_variant,,ENST00000454165,;BAG6,upstream_gene_variant,,ENST00000452994,;BAG6,upstream_gene_variant,,ENST00000211379,;C6orf47,downstream_gene_variant,,ENST00000375911,;BAG6,upstream_gene_variant,,ENST00000451898,;BAG6,upstream_gene_variant,,ENST00000428326,;BAG6,upstream_gene_variant,,ENST00000404765,;BAG6,upstream_gene_variant,,ENST00000456622,;BAG6,upstream_gene_variant,,ENST00000434444,;BAG6,upstream_gene_variant,,ENST00000439687,;BAG6,upstream_gene_variant,,ENST00000424480,;BAG6,upstream_gene_variant,,ENST00000456286,;BAG6,upstream_gene_variant,,ENST00000433828,;C6orf47-AS1,upstream_gene_variant,,ENST00000422049,;	579	172	179	SUCCESS
PEX6	5190	.	GRCh37	6	42933450	42933450	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs267608241	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	15	125	0	ENST00000304611.8:c.2440C>T	p.Arg814Ter	p.R814*	ENST00000304611	NM_000287.3	814	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS4877.1	2440	MUTECT|MUSE|VARSCANS	pathogenic	ACTTCGCCCCC	NONE	byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077:SF9,hmmpanther:PTHR23077	.	.	ENSP00000303511	.	13/17	.	.	.	.	.	.	.	.	rs267608241,CM100015,PEX6_00103,COSM3079466	13/17	nonpreferredpair	ENST00000304611	Transcript	.	.	ENSG00000124587	8859	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,0,1	.	.	.	.	.	0,0,0,1	PEX6_HUMAN	PEX6	HGNC	.	.	UPI00001316EC	SNV	PEX6,stop_gained,p.Arg814Ter,ENST00000304611,;PEX6,synonymous_variant,p.%3D,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,;	2510	126	158	SUCCESS
RIMS1	22999	.	GRCh37	6	72678720	72678720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	61	0	ENST00000521978.1:c.199T>C	p.Cys67Arg	p.C67R	ENST00000521978	NM_014989.5	67	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS47449.1	199	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGCAAA	NONE	.	.	PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19,Gene3D:3.30.40.10,Superfamily_domains:SSF57903	.	.	ENSP00000428417	.	2/34	.	.	.	.	.	.	.	.	.	2/34	nonpreferredpair	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.14)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Cys67Arg,ENST00000518273,;RIMS1,missense_variant,p.Cys67Arg,ENST00000491071,;RIMS1,missense_variant,p.Cys67Arg,ENST00000517960,;RIMS1,missense_variant,p.Cys67Arg,ENST00000522291,;RIMS1,missense_variant,p.Cys67Arg,ENST00000264839,;RIMS1,missense_variant,p.Cys67Arg,ENST00000348717,;RIMS1,missense_variant,p.Cys67Arg,ENST00000520567,;RIMS1,missense_variant,p.Cys67Arg,ENST00000521978,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	199	61	89	SUCCESS
SNAP91	9892	.	GRCh37	6	84311120	84311120	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	98	189	0	ENST00000369694.2:c.1194A>T	p.Ala398=	p.A398=	ENST00000369694	NM_001242792.1	398	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47455.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGTGCTTC	NONE	.	.	hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	16/30	.	.	.	.	.	.	.	.	.	16/30	nonpreferredpair	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,synonymous_variant,p.%3D,ENST00000439399,;SNAP91,synonymous_variant,p.%3D,ENST00000195649,;SNAP91,synonymous_variant,p.%3D,ENST00000521485,;SNAP91,synonymous_variant,p.%3D,ENST00000520302,;SNAP91,synonymous_variant,p.%3D,ENST00000428679,;SNAP91,synonymous_variant,p.%3D,ENST00000369694,;SNAP91,synonymous_variant,p.%3D,ENST00000521743,;SNAP91,synonymous_variant,p.%3D,ENST00000369691,;SNAP91,intron_variant,,ENST00000521931,;SNAP91,intron_variant,,ENST00000437520,;SNAP91,intron_variant,,ENST00000520213,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	1511	189	163	SUCCESS
OR9A4	130075	.	GRCh37	7	141619595	141619595	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782633602	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	59	0	ENST00000548136.1:c.920G>T	p.Arg307Leu	p.R307L	ENST00000548136	NM_001001656.1	307	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43661.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACGCTGCT	CODON|p.R307C|c.919C>T|3	byFrequency	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF216,hmmpanther:PTHR24242	.	.	ENSP00000448789	.	1/1	.	.	.	.	.	.	.	.	rs782633602	1/1	nonpreferredpair	ENST00000548136	Transcript	.	.	ENSG00000258083	15095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0.01)	.	OR9A4_HUMAN	OR9A4	HGNC	.	.	UPI0000041D24	SNV	OR9A4,missense_variant,p.Arg307Leu,ENST00000548136,;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	979	59	57	SUCCESS
ZNF716	441234	.	GRCh37	7	57522850	57522850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	22	0	ENST00000420713.1:c.238A>T	p.Asn80Tyr	p.N80Y	ENST00000420713	NM_001159279.1	80	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS55112.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAATGAG	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50805	.	.	ENSP00000394248	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0.03)	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Asn80Tyr,ENST00000420713,;	350	22	30	SUCCESS
ZNF716	441234	.	GRCh37	7	57522851	57522851	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	22	0	ENST00000420713.1:c.239A>T	p.Asn80Ile	p.N80I	ENST00000420713	NM_001159279.1	80	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS55112.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAATGAGA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50805	.	.	ENSP00000394248	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	deleterious(0.01)	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Asn80Ile,ENST00000420713,;	351	22	30	SUCCESS
TRRAP	8295	.	GRCh37	7	98609873	98609873	+	synonymous_variant	Silent	SNP	C	C	T	rs762119583	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	95	0	ENST00000359863.4:c.11475C>T	p.Leu3825=	p.L3825=	ENST00000359863	NM_001244580.1	3825	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS59066.1	11475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCGCCCA	NONE	.	.	hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000352925	.	72/72	.	.	.	.	.	.	.	.	rs762119583,COSM3883784,COSM3883785	72/72	nonpreferredpair	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,synonymous_variant,p.%3D,ENST00000355540,;TRRAP,synonymous_variant,p.%3D,ENST00000446306,;TRRAP,synonymous_variant,p.%3D,ENST00000456197,;TRRAP,synonymous_variant,p.%3D,ENST00000359863,;AC004893.11,upstream_gene_variant,,ENST00000360902,;	11684	95	60	SUCCESS
LRRC24	441381	.	GRCh37	8	145748134	145748134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	11	0	ENST00000529415.2:c.1267G>A	p.Ala423Thr	p.A423T	ENST00000529415		423	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34969.1	1267	MUTECT|MUSE	.	CATGGCGACCA	NONE	.	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000434849	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000529415	Transcript	.	.	ENSG00000254402	28947	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.27)	.	LRC24_HUMAN	LRRC24	HGNC	.	.	UPI0000419443	SNV	LRRC24,missense_variant,p.Ala423Thr,ENST00000529415,;LRRC24,missense_variant,p.Ala420Thr,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000525766,;C8orf82,downstream_gene_variant,,ENST00000524821,;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC14,downstream_gene_variant,,ENST00000529022,;RECQL4,upstream_gene_variant,,ENST00000428558,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;RECQL4,upstream_gene_variant,,ENST00000532237,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;RECQL4,upstream_gene_variant,,ENST00000532269,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	1385	11	25	SUCCESS
KCNB2	9312	.	GRCh37	8	73480279	73480279	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	242	18	153	0	ENST00000523207.1:c.310C>T	p.Arg104Trp	p.R104W	ENST00000523207	NM_004770.2	104	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6209.1	310	MUTECT|MUSE	.	TCTACCGGACC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169	.	.	ENSP00000430846	.	2/3	.	.	.	.	.	.	.	.	COSM751841	2/3	nonpreferredpair	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Arg104Trp,ENST00000523207,;	898	154	260	SUCCESS
ZFHX4	79776	.	GRCh37	8	77616406	77616406	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1184061424	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	220	23	163	0	ENST00000521891.2:c.83A>G	p.Asp28Gly	p.D28G	ENST00000521891	NM_024721.4	28	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47878.2	83	MUTECT|MUSE|VARSCANS	.	ACTTGATAATG	NONE	.	.	.	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.728)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Asp28Gly,ENST00000517585,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000520307,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000523885,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000518282,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000455469,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000050961,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000521891,;ZFHX4,missense_variant,p.Asp28Gly,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	531	163	244	SUCCESS
STMN2	11075	.	GRCh37	8	80553709	80553709	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1409002840	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	29	98	0	ENST00000220876.7:c.212T>C	p.Leu71Ser	p.L71S	ENST00000220876	NM_007029.3	71	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS56542.1	212	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTAGCTT	NONE	.	.	PROSITE_profiles:PS51663,hmmpanther:PTHR10104,hmmpanther:PTHR10104:SF18,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285,Superfamily_domains:0043535,Prints_domain:PR00345	.	.	ENSP00000429243	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000518111	Transcript	.	.	ENSG00000104435	10577	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.663)	.	tolerated(0.32)	.	STMN2_HUMAN	STMN2	HGNC	.	.	UPI0000E21B31	SNV	STMN2,missense_variant,p.Leu71Ser,ENST00000518111,;STMN2,missense_variant,p.Leu60Ser,ENST00000518491,;STMN2,missense_variant,p.Leu71Ser,ENST00000220876,;	256	98	215	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123156882	123156882	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs765457208	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	28	245	0	ENST00000349780.4:c.5486A>T	p.His1829Leu	p.H1829L	ENST00000349780	NM_018249.5	1829	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS6823.1	5486	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATGTAGT	NONE	.	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	36/38	.	.	.	.	.	.	.	.	rs765457208	36/38	nonpreferredpair	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	deleterious(0.02)	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,missense_variant,p.His1223Leu,ENST00000416449,;CDK5RAP2,missense_variant,p.His1829Leu,ENST00000349780,;CDK5RAP2,missense_variant,p.His1797Leu,ENST00000360822,;CDK5RAP2,missense_variant,p.His839Leu,ENST00000425647,;CDK5RAP2,missense_variant,p.His1750Leu,ENST00000360190,;CDK5RAP2,missense_variant,p.His1788Leu,ENST00000359309,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000433194,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000480467,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000484546,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000474262,;CDK5RAP2,upstream_gene_variant,,ENST00000495406,;	5666	245	220	SUCCESS
LRRC8A	56262	.	GRCh37	9	131670854	131670855	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	61	0	ENST00000259324.5:c.1412_1413del	p.Leu471GlnfsTer13	p.L471Qfs*13	ENST00000259324	NM_001127244.1	471	CTc/c	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS35155.1	1411-1412	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGGGCCTCAAGG	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000259324	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000259324	Transcript	.	.	ENSG00000136802	19027	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRC8A_HUMAN	LRRC8A	HGNC	Q96SW8_HUMAN	.	UPI000004EF9E	deletion	LRRC8A,frameshift_variant,p.Leu471GlnfsTer13,ENST00000259324,;LRRC8A,frameshift_variant,p.Leu471GlnfsTer13,ENST00000372600,;LRRC8A,frameshift_variant,p.Leu471GlnfsTer13,ENST00000372599,;LRRC8A,upstream_gene_variant,,ENST00000492784,;	1934-1935	61	31	SUCCESS
S1PR3	1903	.	GRCh37	9	91617111	91617111	+	synonymous_variant	Silent	SNP	C	C	T	rs138808274	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	43	0	ENST00000358157.2:c.996C>T	p.Leu332=	p.L332=	ENST00000358157	NM_005226.3	332	ctC/ctT	0	T:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS6680.1	996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCGACCC	NONE	byCluster	.	hmmpanther:PTHR22750:SF24,hmmpanther:PTHR22750,Superfamily_domains:SSF81321,Prints_domain:PR01524	.	T:0	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	rs138808274,COSM3927189	1/1	nonpreferredpair	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,synonymous_variant,p.%3D,ENST00000358157,;S1PR3,synonymous_variant,p.%3D,ENST00000375846,;	5691	43	25	SUCCESS
PRKCQ	5588	.	GRCh37	10	6553138	6553138	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	313	0	ENST00000263125.5:c.137T>A	p.Ile46Asn	p.I46N	ENST00000263125	NM_006257.3	46	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS7079.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGATATAC	CODON|p.I46M|c.138C>G|6	.	.	hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,Gene3D:2.60.40.150,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105,Superfamily_domains:SSF49562	.	.	ENSP00000263125	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	deleterious(0)	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,missense_variant,p.Ile46Asn,ENST00000397176,;PRKCQ,missense_variant,p.Ile46Asn,ENST00000263125,;PRKCQ,5_prime_UTR_variant,,ENST00000539722,;	237	313	88	SUCCESS
SH2D4B	387694	.	GRCh37	10	82297928	82297928	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	35	0	ENST00000339284.2:c.-160G>T		p.*54*	ENST00000339284	NM_207372.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7370.1	.	RADIA|SOMATICSNIPER	.	CGCTGGCTGCA	NONE	.	.	.	.	.	ENSP00000345295	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000339284	Transcript	.	.	ENSG00000178217	31440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SH24B_HUMAN	SH2D4B	HGNC	.	.	UPI00002289C3	SNV	SH2D4B,5_prime_UTR_variant,,ENST00000339284,;SH2D4B,upstream_gene_variant,,ENST00000313455,;SH2D4B,upstream_gene_variant,,ENST00000470604,;RP11-137H2.4,upstream_gene_variant,,ENST00000417559,;	271	35	17	SUCCESS
C10orf12	0	.	GRCh37	10	98743690	98743690	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	27	261	0	ENST00000286067.2:c.2543G>A	p.Cys848Tyr	p.C848Y	ENST00000286067	NM_015652.2	848	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS7452.1	2543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGTAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2,Pfam_domain:PF15090	.	.	ENSP00000286067	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286067	Transcript	.	.	ENSG00000155640	23420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	deleterious(0.04)	.	CJ012_HUMAN	C10orf12	HGNC	.	.	UPI000006F242	SNV	C10orf12,missense_variant,p.Cys848Tyr,ENST00000286067,;LCOR,downstream_gene_variant,,ENST00000498444,;	2650	261	107	SUCCESS
PPP2R1B	5519	.	GRCh37	11	111624197	111624197	+	synonymous_variant	Silent	SNP	T	T	C	rs1565459542	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	122	0	ENST00000527614.1:c.1134A>G	p.Leu378=	p.L378=	ENST00000527614	NM_001177562.1	378	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS8348.1	1134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGTAGAAG	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648:SF9,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371	.	.	ENSP00000311344	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000311129	Transcript	.	.	ENSG00000137713	9303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2AAB_HUMAN	PPP2R1B	HGNC	.	.	UPI000006CEE0	SNV	PPP2R1B,synonymous_variant,p.%3D,ENST00000527614,;PPP2R1B,synonymous_variant,p.%3D,ENST00000393055,;PPP2R1B,synonymous_variant,p.%3D,ENST00000427203,;PPP2R1B,synonymous_variant,p.%3D,ENST00000531890,;PPP2R1B,synonymous_variant,p.%3D,ENST00000311129,;PPP2R1B,synonymous_variant,p.%3D,ENST00000426998,;PPP2R1B,intron_variant,,ENST00000341980,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;	1155	122	48	SUCCESS
APOC3	345	.	GRCh37	11	116701502	116701502	+	synonymous_variant	Silent	SNP	C	C	T	rs372158089	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	92	0	ENST00000227667.3:c.69C>T	p.Ala23=	p.A23=	ENST00000227667	NM_000040.1	23	gcC/gcT	0	T:0.0002	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS8377.1	69	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCGAGGA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Pfam_domain:PF05778,hmmpanther:PTHR14225,hmmpanther:PTHR14225:SF0	T:0	T:0	ENSP00000227667	T:0	3/4	.	.	.	.	.	.	.	.	rs372158089,COSM4018078	3/4	PASS	ENST00000227667	Transcript	.	T:0.0002	ENSG00000110245	610	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	T:0.001	.	0,1	APOC3_HUMAN	APOC3	HGNC	A3KPE2_HUMAN,C9J2Q0_HUMAN	.	UPI0000125C26	SNV	APOC3,synonymous_variant,p.%3D,ENST00000375345,;APOC3,synonymous_variant,p.%3D,ENST00000433777,;APOC3,synonymous_variant,p.%3D,ENST00000227667,;APOA1,downstream_gene_variant,,ENST00000375329,;APOA1,downstream_gene_variant,,ENST00000236850,;APOA1,downstream_gene_variant,,ENST00000375320,;APOA1,downstream_gene_variant,,ENST00000359492,;APOA1,downstream_gene_variant,,ENST00000375323,;APOC3,non_coding_transcript_exon_variant,,ENST00000470144,;	131	92	32	SUCCESS
TPH1	7166	.	GRCh37	11	18050909	18050909	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	151	0	ENST00000250018.2:c.471-1G>C		p.X157_splice	ENST00000250018	NM_004179.2	157		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7829.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACTAATG	NONE	.	.	.	.	.	ENSP00000250018	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000250018	Transcript	.	.	ENSG00000129167	12008	.	.	HIGH	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPH1_HUMAN	TPH1	HGNC	B3VS10_HUMAN,B3VS05_HUMAN,B3VS00_HUMAN,B3VRZ5_HUMAN,B3VRZ0_HUMAN,B3VRY5_HUMAN,B3VRY0_HUMAN,B3VRX5_HUMAN,B3VRX0_HUMAN,B3VRW5_HUMAN	.	UPI000013CC9C	SNV	TPH1,splice_acceptor_variant,,ENST00000250018,;TPH1,splice_acceptor_variant,,ENST00000341556,;TPH1,downstream_gene_variant,,ENST00000528338,;TPH1,intron_variant,,ENST00000417164,;	.	151	58	SUCCESS
HPS5	11234	.	GRCh37	11	18339305	18339305	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772160206	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	173	0	ENST00000349215.3:c.101G>A	p.Arg34His	p.R34H	ENST00000349215	NM_181507.1	34	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS7836.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGACGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23287:SF15,hmmpanther:PTHR23287,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037475,Superfamily_domains:SSF50978	.	.	ENSP00000265967	.	2/23	.	.	.	.	.	.	.	.	rs772160206,COSM3967442	2/23	PASS	ENST00000349215	Transcript	.	.	ENSG00000110756	17022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	HPS5_HUMAN	HPS5	HGNC	F5GWM5_HUMAN	.	UPI000000D7E9	SNV	HPS5,missense_variant,p.Arg34His,ENST00000349215,;HPS5,intron_variant,,ENST00000531848,;HPS5,intron_variant,,ENST00000396253,;HPS5,intron_variant,,ENST00000438420,;GTF2H1,upstream_gene_variant,,ENST00000265963,;GTF2H1,upstream_gene_variant,,ENST00000525831,;GTF2H1,upstream_gene_variant,,ENST00000534641,;GTF2H1,upstream_gene_variant,,ENST00000453096,;HPS5,non_coding_transcript_exon_variant,,ENST00000589545,;GTF2H1,upstream_gene_variant,,ENST00000531757,;GTF2H1,upstream_gene_variant,,ENST00000534213,;HPS5,non_coding_transcript_exon_variant,,ENST00000399287,;GTF2H1,upstream_gene_variant,,ENST00000526461,;GTF2H1,upstream_gene_variant,,ENST00000418116,;GTF2H1,upstream_gene_variant,,ENST00000532227,;	379	173	83	SUCCESS
PHF21A	51317	.	GRCh37	11	45975168	45975168	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	174	622	0	ENST00000418153.2:c.1002A>G	p.Lys334=	p.K334=	ENST00000418153		334	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS44578.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGATTTAAC	NONE	.	.	hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF6	.	.	ENSP00000398824	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000418153	Transcript	.	.	ENSG00000135365	24156	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PF21A_HUMAN	PHF21A	HGNC	E9PR02_HUMAN,E9PQM3_HUMAN,E9PNW9_HUMAN,E9PLV4_HUMAN	.	UPI000006E1CB	SNV	PHF21A,synonymous_variant,p.%3D,ENST00000257821,;PHF21A,synonymous_variant,p.%3D,ENST00000323180,;PHF21A,synonymous_variant,p.%3D,ENST00000418153,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527753,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527401,;PHF21A,upstream_gene_variant,,ENST00000534766,;	1202	622	368	SUCCESS
OR4A16	81327	.	GRCh37	11	55111334	55111334	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs548070218	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	255	71	685	0	ENST00000314721.2:c.658C>A	p.Leu220Ile	p.L220I	ENST00000314721	NM_001005274.1	220	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS31499.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCTAAAC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF153,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000325128	.	1/1	.	.	.	.	.	.	.	.	rs548070218	1/1	PASS	ENST00000314721	Transcript	.	.	ENSG00000181961	15153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.654)	.	deleterious_low_confidence(0.01)	.	O4A16_HUMAN	OR4A16	HGNC	.	.	UPI0000061EB2	SNV	OR4A16,missense_variant,p.Leu220Ile,ENST00000314721,;	708	685	327	SUCCESS
OR8H2	390151	.	GRCh37	11	55872714	55872714	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	16	382	0	ENST00000313503.1:c.196C>A	p.His66Asn	p.H66N	ENST00000313503	NM_001005200.1	66	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS31518.1	196	MUTECT|MUSE|VARSCANS	.	TTACTCACCTG	BUFFER|p.L64F|c.190C>T|3	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	COSM322422	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.191)	.	tolerated(0.49)	1	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.His66Asn,ENST00000313503,;	196	382	159	SUCCESS
PRKCDBP	0	.	GRCh37	11	6340705	6340705	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	61	0	ENST00000303927.3:c.474G>A	p.Leu158=	p.L158=	ENST00000303927	NM_145040.2	158	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7762.1	474	MUTECT|VARSCANS	.	GCCTCCAGCTG	CODON|p.L158P|c.473T>C|4	.	.	hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF2,Pfam_domain:PF15237	.	.	ENSP00000307292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303927	Transcript	.	.	ENSG00000170955	9400	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRDBP_HUMAN	PRKCDBP	HGNC	.	.	UPI000013E910	SNV	PRKCDBP,synonymous_variant,p.%3D,ENST00000530979,;PRKCDBP,synonymous_variant,p.%3D,ENST00000303927,;PRKCDBP,non_coding_transcript_exon_variant,,ENST00000532354,;PRKCDBP,non_coding_transcript_exon_variant,,ENST00000524852,;	645	61	32	SUCCESS
PIWIL4	143689	.	GRCh37	11	94353216	94353216	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761308268	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	253	0	ENST00000299001.6:c.2348C>A	p.Thr783Asn	p.T783N	ENST00000299001	NM_152431.2	783	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS31656.1	2348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTACCTACT	NONE	byFrequency	.	PROSITE_profiles:PS50822,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098	.	.	ENSP00000299001	.	19/20	.	.	.	.	.	.	.	.	rs761308268	19/20	PASS	ENST00000299001	Transcript	.	.	ENSG00000134627	18444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,missense_variant,p.Thr783Asn,ENST00000299001,;PIWIL4,missense_variant,p.Thr134Asn,ENST00000537419,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,3_prime_UTR_variant,,ENST00000446230,;PIWIL4,downstream_gene_variant,,ENST00000543336,;	2559	253	86	SUCCESS
ERC1	23085	.	GRCh37	12	1192560	1192560	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	74	0	ENST00000360905.4:c.900G>C	p.Gln300His	p.Q300H	ENST00000360905		300	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS8508.1	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGACCCT	NONE	.	.	hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Pfam_domain:PF10174	.	.	ENSP00000380386	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.13)	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,missense_variant,p.Gln300His,ENST00000546231,;ERC1,missense_variant,p.Gln149His,ENST00000592048,;ERC1,missense_variant,p.Gln300His,ENST00000360905,;ERC1,missense_variant,p.Gln300His,ENST00000589028,;ERC1,missense_variant,p.Gln300His,ENST00000397203,;ERC1,missense_variant,p.Gln300His,ENST00000543086,;ERC1,missense_variant,p.Gln300His,ENST00000355446,;ERC1,upstream_gene_variant,,ENST00000536573,;ERC1,missense_variant,p.Gln300His,ENST00000542302,;ERC1,missense_variant,p.Gln300His,ENST00000440394,;ERC1,missense_variant,p.Gln300His,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,intron_variant,,ENST00000545948,;ERC1,upstream_gene_variant,,ENST00000539007,;	1306	74	33	SUCCESS
TMEM132C	92293	.	GRCh37	12	129028648	129028648	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	39	0	ENST00000435159.2:c.1121G>A	p.Arg374Lys	p.R374K	ENST00000435159	NM_001136103.2	374	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	.	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAGGTAAG	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4	.	.	ENSP00000410852	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000435159	Transcript	.	.	ENSG00000181234	25436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.12)	.	T132C_HUMAN	TMEM132C	HGNC	F5H439_HUMAN,E9PC33_HUMAN	.	UPI0001C0B37C	SNV	TMEM132C,missense_variant,p.Arg374Lys,ENST00000435159,;TMEM132C,splice_region_variant,,ENST00000315208,;	1121	39	22	SUCCESS
EP400NL	0	.	GRCh37	12	132588968	132588968	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	29	211	0	ENST00000443539.2:c.151-144G>T		p.*51*	ENST00000443539				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGCCTTG	NONE	.	.	.	.	.	ENSP00000404338	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443539	Transcript	.	.	ENSG00000185684	26602	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E400N_HUMAN	EP400NL	HGNC	F2Z2G7_HUMAN	.	UPI00003E27F2	SNV	EP400NL,missense_variant,p.Ala66Ser,ENST00000389560,;EP400NL,missense_variant,p.Ala66Ser,ENST00000539205,;EP400NL,missense_variant,p.Ala135Ser,ENST00000376625,;EP400NL,missense_variant,p.Ala66Ser,ENST00000454179,;EP400NL,intron_variant,,ENST00000392352,;EP400NL,intron_variant,,ENST00000443539,;EP400NL,intron_variant,,ENST00000407361,;EP400NL,intron_variant,,ENST00000361109,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,missense_variant,p.Ala67Ser,ENST00000332441,;EP400NL,missense_variant,p.Ala135Ser,ENST00000446190,;	.	211	140	SUCCESS
LALBA	3906	.	GRCh37	12	48963012	48963012	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	154	0	ENST00000301046.2:c.145A>G	p.Met49Val	p.M49V	ENST00000301046	NM_002289.2	49	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8765.1	145	RADIA|MUTECT|MUSE|VARSCANS	.	AAACATGGTAC	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407:SF5,hmmpanther:PTHR11407,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955	.	.	ENSP00000301046	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000301046	Transcript	.	.	ENSG00000167531	6480	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.69)	.	LALBA_HUMAN	LALBA	HGNC	F8VWU1_HUMAN	.	UPI0000111BC4	SNV	LALBA,missense_variant,p.Met49Val,ENST00000301046,;LALBA,missense_variant,p.Met49Val,ENST00000549817,;	171	154	86	SUCCESS
KRT6B	3854	.	GRCh37	12	52845340	52845340	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761274146	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	12	183	0	ENST00000252252.3:c.523G>A	p.Ala175Thr	p.A175T	ENST00000252252	NM_005555.3	175	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8828.1	523	RADIA|VARSCANS	.	GGAGGCAAACT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000252252	.	1/9	.	.	.	.	.	.	.	.	rs761274146	1/9	PASS	ENST00000252252	Transcript	.	.	ENSG00000185479	6444	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	K2C6B_HUMAN	KRT6B	HGNC	.	.	UPI000013CD50	SNV	KRT6B,missense_variant,p.Ala175Thr,ENST00000252252,;	571	183	118	SUCCESS
ESPL1	9700	.	GRCh37	12	53670586	53670586	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	45	0	ENST00000257934.4:c.1883A>T	p.His628Leu	p.H628L	ENST00000257934	NM_012291.4	628	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS8852.1	1883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCACCTGG	NONE	.	.	hmmpanther:PTHR12792	.	.	ENSP00000257934	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000257934	Transcript	.	.	ENSG00000135476	16856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.59)	.	ESPL1_HUMAN	ESPL1	HGNC	H3BRX7_HUMAN	.	UPI00003668C3	SNV	ESPL1,missense_variant,p.His628Leu,ENST00000257934,;ESPL1,missense_variant,p.His628Leu,ENST00000552462,;ESPL1,downstream_gene_variant,,ENST00000550026,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,upstream_gene_variant,,ENST00000535123,;	1974	45	36	SUCCESS
SRGAP1	57522	.	GRCh37	12	64505683	64505683	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	16	274	0	ENST00000355086.3:c.2061C>T	p.Ile687=	p.I687=	ENST00000355086	NM_020762.2	687	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8967.1	2061	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCATCCA	BUFFER|p.E668G|c.2003A>G|3,BUFFER|p.E691G|c.2072A>G|3	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50238,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000347198	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000355086	Transcript	.	.	ENSG00000196935	17382	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRGP1_HUMAN	SRGAP1	HGNC	.	.	UPI00001A9CB9	SNV	SRGAP1,synonymous_variant,p.%3D,ENST00000543397,;SRGAP1,synonymous_variant,p.%3D,ENST00000357825,;SRGAP1,synonymous_variant,p.%3D,ENST00000355086,;RP11-196H14.4,intron_variant,,ENST00000535806,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537585,;	2585	274	138	SUCCESS
PTPRB	5787	.	GRCh37	12	70954625	70954625	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs112738980	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	14	208	0	ENST00000261266.5:c.3604G>C	p.Asp1202His	p.D1202H	ENST00000261266	NM_002837.4	1202	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS44943.1	4258	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCAAAGT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	17/34	.	.	.	.	.	.	.	.	rs112738980	17/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Asp1112His,ENST00000538708,;PTPRB,missense_variant,p.Asp1332His,ENST00000550358,;PTPRB,missense_variant,p.Asp1419His,ENST00000551525,;PTPRB,missense_variant,p.Asp1202His,ENST00000261266,;PTPRB,missense_variant,p.Asp1112His,ENST00000451516,;PTPRB,missense_variant,p.Asp1299His,ENST00000548122,;PTPRB,missense_variant,p.Asp1112His,ENST00000550857,;PTPRB,missense_variant,p.Asp1420His,ENST00000334414,;	4303	208	122	SUCCESS
PTPRB	5787	.	GRCh37	12	70984008	70984008	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	183	21	364	0	ENST00000261266.5:c.1132G>C	p.Asp378His	p.D378H	ENST00000261266	NM_002837.4	378	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS44943.1	1786	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTCTGGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.1)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Asp378His,ENST00000538708,;PTPRB,missense_variant,p.Asp378His,ENST00000261266,;PTPRB,missense_variant,p.Asp596His,ENST00000334414,;PTPRB,missense_variant,p.Asp596His,ENST00000550358,;PTPRB,missense_variant,p.Asp595His,ENST00000551525,;PTPRB,missense_variant,p.Asp475His,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;	1831	364	204	SUCCESS
GLIPR1	11010	.	GRCh37	12	75875766	75875766	+	synonymous_variant	Silent	SNP	T	T	A	rs373244879	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	176	0	ENST00000266659.3:c.327T>A	p.Ser109=	p.S109=	ENST00000266659	NM_006851.2	109	tcT/tcA	0	C:0	.	.	.	.	A	S	protein_coding	YES	CCDS9011.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGTGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10334:SF163,hmmpanther:PTHR10334,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797	.	C:0.0001	ENSP00000266659	.	2/6	.	.	.	.	.	.	.	.	rs373244879	2/6	PASS	ENST00000266659	Transcript	.	.	ENSG00000139278	17001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLIP1_HUMAN	GLIPR1	HGNC	.	.	UPI000012B60F	SNV	GLIPR1,synonymous_variant,p.%3D,ENST00000456650,;GLIPR1,synonymous_variant,p.%3D,ENST00000266659,;GLIPR1,5_prime_UTR_variant,,ENST00000550491,;RP11-585P4.5,downstream_gene_variant,,ENST00000547326,;GLIPR1,synonymous_variant,p.%3D,ENST00000536703,;	528	176	127	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85449370	85449370	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763526182	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	205	1	ENST00000393217.2:c.799A>G	p.Arg267Gly	p.R267G	ENST00000393217	NM_001079910.1	267	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS41816.1	799	MUTECT|MUSE	.	GAACAAGATTT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	rs763526182	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.804)	.	tolerated(0.11)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Arg140Gly,ENST00000533414,;LRRIQ1,missense_variant,p.Arg267Gly,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	860	206	74	SUCCESS
ITGBL1	9358	.	GRCh37	13	102366888	102366888	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	47	403	0	ENST00000376180.3:c.1380T>G	p.Gly460=	p.G460=	ENST00000376180	NM_004791.2	460	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS9499.1	1380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTCTCAT	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF3,Gene3D:2.10.25.10,Superfamily_domains:SSF57196	.	.	ENSP00000365351	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000376180	Transcript	.	.	ENSG00000198542	6164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITGBL_HUMAN	ITGBL1	HGNC	B3KTP1_HUMAN	.	UPI0000073C95	SNV	ITGBL1,synonymous_variant,p.%3D,ENST00000376162,;ITGBL1,synonymous_variant,p.%3D,ENST00000490242,;ITGBL1,synonymous_variant,p.%3D,ENST00000376180,;ITGBL1,synonymous_variant,p.%3D,ENST00000545560,;RP11-397O8.7,downstream_gene_variant,,ENST00000606869,;ITGBL1,upstream_gene_variant,,ENST00000415285,;	1599	403	194	SUCCESS
RNF17	56163	.	GRCh37	13	25435486	25435486	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	22	317	0	ENST00000255324.5:c.3855C>T	p.Pro1285=	p.P1285=	ENST00000255324	NM_031277.2	1285	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9308.2	3855	RADIA|MUTECT|MUSE|VARSCANS	.	ATACCCCAGTT	NONE	.	.	PROSITE_profiles:PS50304,hmmpanther:PTHR16442,Pfam_domain:PF00567,Superfamily_domains:SSF63748	.	.	ENSP00000255324	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,synonymous_variant,p.%3D,ENST00000255324,;RNF17,synonymous_variant,p.%3D,ENST00000381921,;RNF17,synonymous_variant,p.%3D,ENST00000339524,;RNF17,synonymous_variant,p.%3D,ENST00000418120,;	3907	317	174	SUCCESS
SUPT20H	55578	.	GRCh37	13	37619483	37619483	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	141	0	ENST00000350612.6:c.193G>A	p.Glu65Lys	p.E65K	ENST00000350612	NM_001014286.2	65	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31959.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCTAACA	NONE	.	.	hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3,Pfam_domain:PF12090	.	.	ENSP00000218894	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000350612	Transcript	.	.	ENSG00000102710	20596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,missense_variant,p.Glu65Lys,ENST00000350612,;SUPT20H,missense_variant,p.Glu53Lys,ENST00000542180,;SUPT20H,missense_variant,p.Glu66Lys,ENST00000360252,;SUPT20H,missense_variant,p.Glu66Lys,ENST00000464744,;SUPT20H,missense_variant,p.Glu66Lys,ENST00000497318,;SUPT20H,missense_variant,p.Glu66Lys,ENST00000356185,;SUPT20H,missense_variant,p.Glu65Lys,ENST00000475892,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000476109,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000470359,;SUPT20H,intron_variant,,ENST00000483241,;SUPT20H,missense_variant,p.Glu53Lys,ENST00000490716,;SUPT20H,missense_variant,p.Glu53Lys,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000493537,;SUPT20H,intron_variant,,ENST00000464572,;SUPT20H,downstream_gene_variant,,ENST00000471868,;	414	141	54	SUCCESS
FREM2	341640	.	GRCh37	13	39265592	39265592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	140	0	ENST00000280481.7:c.4111A>G	p.Thr1371Ala	p.T1371A	ENST00000280481	NM_207361.4	1371	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS31960.1	4111	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTACCCAG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Thr1371Ala,ENST00000280481,;	4327	140	80	SUCCESS
DIAPH3	81624	.	GRCh37	13	60498943	60498943	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	46	598	0	ENST00000400324.4:c.2136T>G	p.Leu712=	p.L712=	ENST00000400324	NM_001042517.1	712	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS41898.1	2136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTAAGTTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000383178	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000400324	Transcript	.	.	ENSG00000139734	15480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIAP3_HUMAN	DIAPH3	HGNC	.	.	UPI0000DAC774	SNV	DIAPH3,synonymous_variant,p.%3D,ENST00000400324,;DIAPH3,synonymous_variant,p.%3D,ENST00000267215,;DIAPH3,synonymous_variant,p.%3D,ENST00000400319,;DIAPH3,synonymous_variant,p.%3D,ENST00000400330,;DIAPH3,synonymous_variant,p.%3D,ENST00000377908,;DIAPH3,synonymous_variant,p.%3D,ENST00000400320,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;	2357	598	220	SUCCESS
ATP10A	57194	.	GRCh37	15	25959333	25959333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1398816768	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	33	0	ENST00000356865.6:c.1832G>A	p.Arg611Gln	p.R611Q	ENST00000356865	NM_024490.3	611	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS32178.1	1832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCGCAGG	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710	.	.	ENSP00000349325	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	tolerated(0.79)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Arg611Gln,ENST00000356865,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;	1944	33	27	SUCCESS
HERC2	8924	.	GRCh37	15	28457606	28457606	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs752695519	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	583	141	1051	0	ENST00000261609.7:c.6910A>T	p.Lys2304Ter	p.K2304*	ENST00000261609	NM_004667.5	2304	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS10021.1	6910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTTAGTCG	NONE	byFrequency	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	43/93	.	.	.	.	.	.	.	.	rs752695519	43/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,stop_gained,p.Lys2304Ter,ENST00000261609,;	7019	1051	724	SUCCESS
TMCO5A	145942	.	GRCh37	15	38229051	38229051	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	41	0	ENST00000319669.4:c.144G>A	p.Leu48=	p.L48=	ENST00000319669	NM_152453.2	48	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10046.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGGAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22422:SF4,hmmpanther:PTHR22422,Pfam_domain:PF14992	.	.	ENSP00000327234	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000319669	Transcript	.	.	ENSG00000166069	28558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC5A_HUMAN	TMCO5A	HGNC	H0YLW5_HUMAN,H0YLN2_HUMAN,H0YLD3_HUMAN,H0YL40_HUMAN	.	UPI00001BBFD2	SNV	TMCO5A,synonymous_variant,p.%3D,ENST00000558158,;TMCO5A,synonymous_variant,p.%3D,ENST00000319669,;TMCO5A,synonymous_variant,p.%3D,ENST00000559502,;TMCO5A,synonymous_variant,p.%3D,ENST00000558625,;TMCO5A,synonymous_variant,p.%3D,ENST00000560841,;TMCO5A,synonymous_variant,p.%3D,ENST00000558148,;TMCO5A,synonymous_variant,p.%3D,ENST00000540944,;TMCO5A,synonymous_variant,p.%3D,ENST00000560653,;TMCO5A,non_coding_transcript_exon_variant,,ENST00000559813,;	246	41	19	SUCCESS
TYRO3	7301	.	GRCh37	15	41854881	41854881	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	27	63	0	ENST00000263798.3:c.545G>A	p.Gly182Glu	p.G182E	ENST00000263798	NM_006293.3	182	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS10080.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGACCCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000263798	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000263798	Transcript	.	.	ENSG00000092445	12446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.64)	.	TYRO3_HUMAN	TYRO3	HGNC	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN	.	UPI000013788A	SNV	TYRO3,missense_variant,p.Gly182Glu,ENST00000263798,;TYRO3,missense_variant,p.Gly137Glu,ENST00000559066,;TYRO3,upstream_gene_variant,,ENST00000560227,;TYRO3,downstream_gene_variant,,ENST00000560992,;TYRO3,upstream_gene_variant,,ENST00000559815,;	769	63	42	SUCCESS
CTDSPL2	51496	.	GRCh37	15	44811383	44811383	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	230	0	ENST00000260327.4:c.1129G>A	p.Glu377Lys	p.E377K	ENST00000260327	NM_016396.2	377	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10110.1	1129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTGAACAT	NONE	.	.	PROSITE_profiles:PS50969,hmmpanther:PTHR12210,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR02251,Pfam_domain:PF03031,SMART_domains:SM00577,Superfamily_domains:SSF56784	.	.	ENSP00000260327	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000260327	Transcript	.	.	ENSG00000137770	26936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0.03)	.	CTSL2_HUMAN	CTDSPL2	HGNC	H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN	.	UPI000004A0B3	SNV	CTDSPL2,missense_variant,p.Glu305Lys,ENST00000396780,;CTDSPL2,missense_variant,p.Glu305Lys,ENST00000558373,;CTDSPL2,missense_variant,p.Glu377Lys,ENST00000558966,;CTDSPL2,missense_variant,p.Glu377Lys,ENST00000260327,;CTD-2329K10.1,upstream_gene_variant,,ENST00000561324,;CTDSPL2,upstream_gene_variant,,ENST00000559738,;CTDSPL2,3_prime_UTR_variant,,ENST00000560620,;CTDSPL2,upstream_gene_variant,,ENST00000559175,;	1692	230	96	SUCCESS
MYO1E	4643	.	GRCh37	15	59464100	59464100	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746479279	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	140	0	ENST00000288235.4:c.2476C>T	p.Leu826Phe	p.L826F	ENST00000288235	NM_004998.3	826	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS32254.1	2476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGGGACA	NONE	byFrequency	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF06017	.	.	ENSP00000288235	.	22/28	.	.	.	.	.	.	.	.	rs746479279	22/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Leu247Phe,ENST00000559269,;MYO1E,missense_variant,p.Leu317Phe,ENST00000560749,;MYO1E,missense_variant,p.Leu826Phe,ENST00000288235,;MIR2116,upstream_gene_variant,,ENST00000517221,;	2876	140	82	SUCCESS
ATP2A1	487	.	GRCh37	16	28913552	28913552	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	36	116	0	ENST00000357084.3:c.2369T>C	p.Val790Ala	p.V790A	ENST00000357084	NM_173201.3	790	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10643.1	2369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGTGCAGC	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF215,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01116,Pfam_domain:PF00689,Superfamily_domains:0049473	.	.	ENSP00000349595	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000357084	Transcript	.	.	ENSG00000196296	811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.589)	.	deleterious(0)	.	AT2A1_HUMAN	ATP2A1	HGNC	H3BUU3_HUMAN	.	UPI000003B461	SNV	ATP2A1,missense_variant,p.Val665Ala,ENST00000536376,;ATP2A1,missense_variant,p.Val790Ala,ENST00000395503,;ATP2A1,missense_variant,p.Val790Ala,ENST00000357084,;RABEP2,downstream_gene_variant,,ENST00000357573,;RABEP2,downstream_gene_variant,,ENST00000544477,;ATP2A1,upstream_gene_variant,,ENST00000564112,;RABEP2,downstream_gene_variant,,ENST00000358201,;ATP2A1,downstream_gene_variant,,ENST00000564732,;	2636	116	115	SUCCESS
ZNF843	283933	.	GRCh37	16	31448157	31448157	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	41	0	ENST00000315678.5:c.14C>T	p.Pro5Leu	p.P5L	ENST00000315678	NM_001136509.1	5	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS45471.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGGGAGG	NONE	.	.	.	.	.	ENSP00000322899	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315678	Transcript	.	.	ENSG00000176723	28710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious_low_confidence(0.03)	.	ZN843_HUMAN	ZNF843	HGNC	.	.	UPI000006D317	SNV	ZNF843,missense_variant,p.Pro5Leu,ENST00000315678,;ZNF843,missense_variant,p.Pro5Leu,ENST00000564218,;	739	41	37	SUCCESS
PKD1L2	114780	.	GRCh37	16	81180918	81180918	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	97	0	ENST00000525539.1:c.5173T>C	p.Ser1725Pro	p.S1725P	ENST00000525539	NM_052892.3	1725	Tca/Cca	0	.	.	.	.	.	G	.	retained_intron	.	.	.	RADIA|VARSCANS	.	TGATGACCCCA	NONE	.	.	.	.	.	.	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000299598	Transcript	.	.	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PKD1L2	HGNC	.	.	.	SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,missense_variant,p.Ser1725Pro,ENST00000525539,;PKD1L2,missense_variant,p.Ser1040Pro,ENST00000533478,;	4570	97	42	SUCCESS
SPIRE2	84501	.	GRCh37	16	89924764	89924764	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	95	0	ENST00000378247.3:c.1121G>T	p.Cys374Phe	p.C374F	ENST00000378247	NM_032451.1	374	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS32516.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGCATCC	NONE	.	.	hmmpanther:PTHR21345:SF5,hmmpanther:PTHR21345	.	.	ENSP00000367494	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000378247	Transcript	.	.	ENSG00000204991	30623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.21)	.	SPIR2_HUMAN	SPIRE2	HGNC	B3KT42_HUMAN	.	UPI00001C1FA8	SNV	SPIRE2,missense_variant,p.Cys374Phe,ENST00000378247,;SPIRE2,missense_variant,p.Cys374Phe,ENST00000393062,;SPIRE2,3_prime_UTR_variant,,ENST00000566337,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000569108,;SPIRE2,upstream_gene_variant,,ENST00000562029,;SPIRE2,downstream_gene_variant,,ENST00000561883,;	1164	95	50	SUCCESS
PRDM7	11105	.	GRCh37	16	90126813	90126813	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752242663	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	64	415	0	ENST00000449207.2:c.1169G>C	p.Ser390Thr	p.S390T	ENST00000449207	NM_001098173.1	390	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS45557.1	1169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATACTCATC	BUFFER|p.M387L|c.1159A>C|7	.	.	hmmpanther:PTHR16515:SF9,hmmpanther:PTHR16515	.	.	ENSP00000396732	.	9/10	.	.	.	.	.	.	.	.	rs752242663	9/10	PASS	ENST00000449207	Transcript	.	.	ENSG00000126856	9351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.68)	.	PRDM7_HUMAN	PRDM7	HGNC	.	.	UPI00015294E9	SNV	PRDM7,missense_variant,p.Ser390Thr,ENST00000449207,;PRDM7,intron_variant,,ENST00000325921,;PRDM7,intron_variant,,ENST00000407825,;PRDM7,downstream_gene_variant,,ENST00000568473,;PRDM7,downstream_gene_variant,,ENST00000564210,;	1189	416	169	SUCCESS
TVP23C	201158	.	GRCh37	17	15449210	15449210	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	87	382	0	ENST00000225576.3:c.351A>C	p.Lys117Asn	p.K117N	ENST00000225576	NM_145301.2	117	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS11170.1	351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTTTATT	NONE	.	.	hmmpanther:PTHR13019,hmmpanther:PTHR13019:SF9,Pfam_domain:PF05832	.	.	ENSP00000225576	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000225576	Transcript	.	.	ENSG00000175106	30453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.27)	.	TV23C_HUMAN	TVP23C	HGNC	E5RGC5_HUMAN	.	UPI000013C872	SNV	TVP23C,missense_variant,p.Lys53Asn,ENST00000419890,;TVP23C,missense_variant,p.Lys53Asn,ENST00000584811,;TVP23C-CDRT4,missense_variant,p.Lys117Asn,ENST00000522212,;TVP23C,missense_variant,p.Lys117Asn,ENST00000518321,;TVP23C,missense_variant,p.Lys117Asn,ENST00000225576,;TVP23C,missense_variant,p.Lys31Asn,ENST00000519970,;TVP23C,missense_variant,p.Lys117Asn,ENST00000428082,;TVP23C,missense_variant,p.Lys117Asn,ENST00000438826,;TVP23C,missense_variant,p.Lys7Asn,ENST00000581273,;TVP23C,3_prime_UTR_variant,,ENST00000521179,;TVP23C,3_prime_UTR_variant,,ENST00000523573,;TVP23C-CDRT4,3_prime_UTR_variant,,ENST00000557349,;TVP23C-CDRT4,3_prime_UTR_variant,,ENST00000518506,;TVP23C-CDRT4,3_prime_UTR_variant,,ENST00000481756,;	447	382	212	SUCCESS
MYO15A	51168	.	GRCh37	17	18058480	18058480	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367717396	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	50	0	ENST00000205890.5:c.8281G>A	p.Val2761Met	p.V2761M	ENST00000205890	NM_016239.3	2761	Gtg/Atg	0	A:0	A:0.0008	.	A:0	.	A	V/M	protein_coding	YES	CCDS42271.1	8281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGTGGTC	NONE	byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000205890	A:0	46/66	.	.	.	.	.	.	.	.	rs367717396,COSM559979	46/66	PASS	ENST00000205890	Transcript	.	A:0.0002	ENSG00000091536	7594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	A:0	.	0,1	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,missense_variant,p.Val25Met,ENST00000585180,;MYO15A,missense_variant,p.Val25Met,ENST00000418233,;MYO15A,missense_variant,p.Val2761Met,ENST00000205890,;MYO15A,upstream_gene_variant,,ENST00000451725,;MYO15A,upstream_gene_variant,,ENST00000578472,;MYO15A,upstream_gene_variant,,ENST00000579848,;MYO15A,upstream_gene_variant,,ENST00000556535,;MYO15A,upstream_gene_variant,,ENST00000557190,;MYO15A,non_coding_transcript_exon_variant,,ENST00000536811,;MYO15A,intron_variant,,ENST00000445289,;MYO15A,upstream_gene_variant,,ENST00000557655,;MYO15A,upstream_gene_variant,,ENST00000433411,;	8619	50	42	SUCCESS
TOP3A	7156	.	GRCh37	17	18188782	18188782	+	synonymous_variant	Silent	SNP	G	G	A	rs759705124	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	73	154	0	ENST00000321105.5:c.1650C>T	p.Tyr550=	p.Y550=	ENST00000321105	NM_004618.3	550	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11194.1	1650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGTACAT	NONE	byFrequency	.	hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Gene3D:1.10.460.10,Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712	.	.	ENSP00000321636	.	14/19	.	.	.	.	.	.	.	.	rs759705124	14/19	PASS	ENST00000321105	Transcript	.	.	ENSG00000177302	11992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOP3A_HUMAN	TOP3A	HGNC	B4DSJ0_HUMAN,A8K398_HUMAN	.	UPI00001371A0	SNV	TOP3A,synonymous_variant,p.%3D,ENST00000580095,;TOP3A,synonymous_variant,p.%3D,ENST00000540524,;TOP3A,synonymous_variant,p.%3D,ENST00000321105,;TOP3A,synonymous_variant,p.%3D,ENST00000542570,;TOP3A,missense_variant,p.Thr92Met,ENST00000582122,;TOP3A,3_prime_UTR_variant,,ENST00000581536,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,non_coding_transcript_exon_variant,,ENST00000469739,;TOP3A,upstream_gene_variant,,ENST00000477508,;	1865	154	152	SUCCESS
SMCR8	140775	.	GRCh37	17	18221376	18221376	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	163	0	ENST00000406438.3:c.2273G>T	p.Gly758Val	p.G758V	ENST00000406438	NM_144775.2	758	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11195.2	2273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGGCTGCT	NONE	.	.	hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334	.	.	ENSP00000385025	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000406438	Transcript	.	.	ENSG00000176994	17921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0)	.	SMCR8_HUMAN	SMCR8	HGNC	.	.	UPI0000E0322D	SNV	SMCR8,missense_variant,p.Gly758Val,ENST00000406438,;TOP3A,upstream_gene_variant,,ENST00000580095,;TOP3A,upstream_gene_variant,,ENST00000321105,;TOP3A,upstream_gene_variant,,ENST00000542570,;TOP3A,upstream_gene_variant,,ENST00000584887,;TOP3A,upstream_gene_variant,,ENST00000582230,;TOP3A,upstream_gene_variant,,ENST00000584669,;TOP3A,upstream_gene_variant,,ENST00000580713,;TOP3A,upstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000585031,;TOP3A,upstream_gene_variant,,ENST00000472959,;TOP3A,upstream_gene_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000582981,;TOP3A,upstream_gene_variant,,ENST00000584582,;RPL21P121,downstream_gene_variant,,ENST00000439258,;	2753	163	98	SUCCESS
EPN2	22905	.	GRCh37	17	19189061	19189061	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766973140	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	132	0	ENST00000314728.5:c.724G>T	p.Asp242Tyr	p.D242Y	ENST00000314728	NM_014964.4	242	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS11203.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGACTGG	NONE	.	.	hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF50	.	.	ENSP00000320543	.	4/11	.	.	.	.	.	.	.	.	rs766973140	4/11	PASS	ENST00000314728	Transcript	.	.	ENSG00000072134	18639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	tolerated_low_confidence(0.15)	.	EPN2_HUMAN	EPN2	HGNC	Q6NSL9_HUMAN,J3QRG9_HUMAN,J3QLN2_HUMAN,J3QKL8_HUMAN,J3KTF6_HUMAN,J3KSF8_HUMAN,J3KSC7_HUMAN,J3KSA6_HUMAN	.	UPI000013D197	SNV	EPN2,missense_variant,p.Asp242Tyr,ENST00000395626,;EPN2,missense_variant,p.Asp242Tyr,ENST00000314728,;EPN2,intron_variant,,ENST00000571254,;EPN2,intron_variant,,ENST00000494192,;EPN2,intron_variant,,ENST00000395620,;EPN2,intron_variant,,ENST00000575595,;EPN2,intron_variant,,ENST00000395628,;EPN2,intron_variant,,ENST00000395618,;EPN2,intron_variant,,ENST00000347697,;EPN2,downstream_gene_variant,,ENST00000581024,;EPN2,downstream_gene_variant,,ENST00000582015,;EPN2,downstream_gene_variant,,ENST00000583197,;EPN2,downstream_gene_variant,,ENST00000584150,;EPN2,downstream_gene_variant,,ENST00000577692,;EPN2,downstream_gene_variant,,ENST00000577195,;EPN2,downstream_gene_variant,,ENST00000584633,;EPN2,downstream_gene_variant,,ENST00000584707,;EPN2,downstream_gene_variant,,ENST00000582234,;EPN2,downstream_gene_variant,,ENST00000577244,;EPN2,downstream_gene_variant,,ENST00000582969,;EPN2,intron_variant,,ENST00000580579,;EPN2,intron_variant,,ENST00000495155,;	1208	132	139	SUCCESS
SGSM2	9905	.	GRCh37	17	2282393	2282393	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756175700	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	52	319	0	ENST00000426855.2:c.2828C>T	p.Ser943Leu	p.S943L	ENST00000426855	NM_001098509.1	943	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS32526.1	2963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCGGAGC	NONE	.	.	hmmpanther:PTHR22957:SF194,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000268989	.	23/24	.	.	.	.	.	.	.	.	rs756175700	23/24	PASS	ENST00000268989	Transcript	.	.	ENSG00000141258	29026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SGSM2_HUMAN	SGSM2	HGNC	I3L1Y7_HUMAN	.	UPI0000160300	SNV	SGSM2,missense_variant,p.Ser988Leu,ENST00000268989,;SGSM2,missense_variant,p.Ser36Leu,ENST00000573851,;SGSM2,missense_variant,p.Ser943Leu,ENST00000426855,;SGSM2,missense_variant,p.Ser943Leu,ENST00000574563,;MNT,downstream_gene_variant,,ENST00000174618,;SGSM2,upstream_gene_variant,,ENST00000572925,;RP1-59D14.5,intron_variant,,ENST00000574290,;RP1-59D14.5,upstream_gene_variant,,ENST00000573007,;SGSM2,non_coding_transcript_exon_variant,,ENST00000572841,;SGSM2,downstream_gene_variant,,ENST00000574857,;SGSM2,downstream_gene_variant,,ENST00000573717,;	3140	319	135	SUCCESS
KRT35	3886	.	GRCh37	17	39635729	39635729	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	13	190	0	ENST00000393989.1:c.581A>T	p.Gln194Leu	p.Q194L	ENST00000393989	NM_002280.4	194	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11394.2	581	MUTECT|MUSE|VARSCANS	.	CCAGCTGCCGC	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF109,Pfam_domain:PF00038	.	.	ENSP00000377558	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000393989	Transcript	.	.	ENSG00000197079	6453	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.727)	.	tolerated(0.07)	.	KRT35_HUMAN	KRT35	HGNC	C4AM86_HUMAN	.	UPI0000D74C4B	SNV	KRT35,missense_variant,p.Gln164Leu,ENST00000246639,;KRT35,missense_variant,p.Gln194Leu,ENST00000393989,;	624	190	155	SUCCESS
SPAG7	9552	.	GRCh37	17	4864100	4864100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	136	458	0	ENST00000206020.3:c.134A>G	p.Lys45Arg	p.K45R	ENST00000206020	NM_004890.2	45	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS42240.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTTCTGT	NONE	.	.	Superfamily_domains:SSF82708,SMART_domains:SM00393,PIRSF_domain:PIRSF037943,hmmpanther:PTHR13498,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000206020	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000206020	Transcript	.	.	ENSG00000091640	11216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.78)	.	SPAG7_HUMAN	SPAG7	HGNC	I3L0X5_HUMAN	.	UPI000006FBF5	SNV	SPAG7,missense_variant,p.Lys45Arg,ENST00000206020,;SPAG7,missense_variant,p.Lys34Arg,ENST00000575142,;SPAG7,5_prime_UTR_variant,,ENST00000573366,;ENO3,downstream_gene_variant,,ENST00000518175,;ENO3,downstream_gene_variant,,ENST00000323997,;ENO3,downstream_gene_variant,,ENST00000519584,;SPAG7,missense_variant,p.Lys34Arg,ENST00000575784,;SPAG7,non_coding_transcript_exon_variant,,ENST00000573805,;SPAG7,upstream_gene_variant,,ENST00000572148,;ENO3,downstream_gene_variant,,ENST00000522954,;ENO3,downstream_gene_variant,,ENST00000522425,;ENO3,downstream_gene_variant,,ENST00000521659,;	202	459	177	SUCCESS
MRC2	9902	.	GRCh37	17	60757607	60757607	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370911684	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	26	98	0	ENST00000303375.5:c.2375C>T	p.Ser792Phe	p.S792F	ENST00000303375	NM_006039.4	792	tCc/tTc	0	G:0.0002	.	.	.	.	T	S/F	protein_coding	YES	CCDS11634.1	2375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCCCTGC	NONE	byCluster	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	G:0	ENSP00000307513	.	15/30	.	.	.	.	.	.	.	.	rs370911684	15/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,missense_variant,p.Ser792Phe,ENST00000303375,;MRC2,upstream_gene_variant,,ENST00000579432,;MRC2,upstream_gene_variant,,ENST00000446119,;RNU6-446P,upstream_gene_variant,,ENST00000362827,;MRC2,upstream_gene_variant,,ENST00000583597,;MRC2,downstream_gene_variant,,ENST00000584265,;MRC2,downstream_gene_variant,,ENST00000584682,;	2777	98	122	SUCCESS
ABCA8	10351	.	GRCh37	17	66873752	66873752	+	synonymous_variant	Silent	SNP	C	C	T	rs1365443017	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	111	0	ENST00000269080.2:c.3987G>A	p.Ala1329=	p.A1329=	ENST00000269080	NM_007168.2	1329	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11680.1	3987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGCGTT	BUFFER|p.P1372P|c.4116C>T|4,BUFFER|p.P1332P|c.3996C>T|4,BUFFER|p.A1329T|c.3985G>A|3	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF115,hmmpanther:PTHR19229,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000269080	.	31/38	.	.	.	.	.	.	.	.	.	31/38	PASS	ENST00000269080	Transcript	.	.	ENSG00000141338	38	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA8_HUMAN	ABCA8	HGNC	K7ELK9_HUMAN	.	UPI000004C4B7	SNV	ABCA8,synonymous_variant,p.%3D,ENST00000269080,;ABCA8,synonymous_variant,p.%3D,ENST00000430352,;ABCA8,synonymous_variant,p.%3D,ENST00000586539,;ABCA8,non_coding_transcript_exon_variant,,ENST00000588458,;ABCA8,non_coding_transcript_exon_variant,,ENST00000591459,;ABCA8,non_coding_transcript_exon_variant,,ENST00000586292,;ABCA8,downstream_gene_variant,,ENST00000589980,;	4125	111	103	SUCCESS
TP53	7157	.	GRCh37	17	7578454	7578455	+	inframe_insertion	In_Frame_Ins	INS	-	-	CGCGGA	rs1555526140	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	80	0	ENST00000269305.4:c.470_475dup	p.Val157_Arg158dup	p.V157_R158dup	ENST00000269305	NM_001126112.2	157	gcc/gTCCGCGcc	0	.	.	.	.	.	CGCGGA	A/VRA	protein_coding	YES	CCDS11118.1	475-476	INDELOCATOR|VARSCANI	.	CCATGGCGCGG	CODON|p.0?|c.1_1182del1182|6,CODON|p.A159A|c.477C>T|8,CODON|p.A159fs*11|c.475delG|4,CODON|p.R158fs*11|c.472_475delCGCG|3,CODON|p.A159V|c.476C>T|9,CODON|p.A66V|c.197C>T|9,CODON|p.A27V|c.80C>T|9,CODON|p.A159V|c.476C>T|39,CODON|p.A159V|c.476C>T|9,CODON|p.A159D|c.476C>A|6,BUFFER|p.Y163H|c.487T>C|19,BUFFER|p.Y70D|c.208T>G|3,BUFFER|p.Y163N|c.487T>A|5,BUFFER|p.Y163N|c.487T>A|5,BUFFER|p.Y163D|c.487T>G|3,BUFFER|p.Y70N|c.208T>A|5,BUFFER|p.Y163N|c.487T>A|22,BUFFER|p.Y163D|c.487T>G|3,BUFFER|p.Y31D|c.91T>G|3,BUFFER|p.Y31N|c.91T>A|5,BUFFER|p.Y163D|c.487T>G|6,BUFFER|p.I162M|c.486C>G|3,BUFFER|p.I162N|c.485T>A|6,BUFFER|p.I162N|c.485T>A|9,BUFFER|p.I162S|c.485T>G|5,BUFFER|p.I69N|c.206T>A|6,BUFFER|p.I162N|c.485T>A|6,BUFFER|p.I30N|c.89T>A|6,BUFFER|p.I162V|c.484A>G|5,BUFFER|p.I162F|c.484A>T|11,BUFFER|p.A161A|c.483C>T|5,BUFFER|p.A161fs*9|c.481delG|3,BUFFER|p.A161V|c.482C>T|9,BUFFER|p.A161D|c.482C>A|9,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A29T|c.85G>A|10,BUFFER|p.A161T|c.481G>A|52,BUFFER|p.A68T|c.202G>A|10,BUFFER|p.A161S|c.481G>T|3,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158C|c.471_472CC>TT|6,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157V|c.471C>A|3,BUFFER|p.V157G|c.470T>G|9,BUFFER|p.V157D|c.470T>A|8,BUFFER|p.V157F|c.469G>T|7,BUFFER|p.V157F|c.469G>T|8,BUFFER|p.V157L|c.469G>C|6,BUFFER|p.V157F|c.469G>T|22,BUFFER|p.V157F|c.469G>T|162,BUFFER|p.V157I|c.469G>A|10,BUFFER|p.V157F|c.469G>T|22,BUFFER|p.V25F|c.73G>T|25,BUFFER|p.V64F|c.190G>T|22,BUFFER|p.V157fs*13|c.468delC|3,BUFFER|p.R156P|c.467G>C|26,BUFFER|p.R63P|c.188G>C|4,BUFFER|p.R156H|c.467G>A|11,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R24P|c.71G>C|4,BUFFER|p.R156L|c.467G>T|3,BUFFER|p.P152fs*14|c.454_466del13|5,BUFFER|p.R156fs*14|c.466delC|9,BUFFER|p.R156S|c.466C>A|3,BUFFER|p.R156G|c.466C>G|3,BUFFER|p.R156C|c.466C>T|4,BUFFER|p.T155T|c.465C>T|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	insertion	TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000508793,;TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000413465,;TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000420246,;TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000269305,;TP53,inframe_insertion,p.Val25_Arg26dup,ENST00000509690,;TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000359597,;TP53,inframe_insertion,p.Val64_Arg65dup,ENST00000514944,;TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000445888,;TP53,inframe_insertion,p.Val157_Arg158dup,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	665-666	80	31	SUCCESS
RNF213	57674	.	GRCh37	17	78321374	78321374	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	65	0	ENST00000582970.1:c.9239A>G	p.Tyr3080Cys	p.Y3080C	ENST00000582970	NM_001256071.1	3080	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS58606.1	9239	RADIA|VARSCANS	.	AGAGTACACCC	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	29/68	.	.	.	.	.	.	.	.	.	29/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Tyr3080Cys,ENST00000582970,;RNF213,missense_variant,p.Tyr1153Cys,ENST00000336301,;RNF213,missense_variant,p.Tyr3129Cys,ENST00000508628,;CTD-2047H16.4,downstream_gene_variant,,ENST00000575034,;	9382	65	39	SUCCESS
CCDC57	284001	.	GRCh37	17	80136965	80136965	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	122	0	ENST00000389641.4:c.1312G>A	p.Glu438Lys	p.E438K	ENST00000389641		438	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	.	1312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCAATGT	NONE	.	.	hmmpanther:PTHR23161:SF1,hmmpanther:PTHR23161	.	.	ENSP00000376154	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000392343	Transcript	.	.	ENSG00000176155	27564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCD57_HUMAN	CCDC57	HGNC	.	.	UPI000022A20F	SNV	CCDC57,missense_variant,p.Glu438Lys,ENST00000389641,;CCDC57,missense_variant,p.Glu438Lys,ENST00000392343,;CCDC57,missense_variant,p.Glu438Lys,ENST00000392347,;CCDC57,intron_variant,,ENST00000327026,;CCDC57,upstream_gene_variant,,ENST00000577530,;	1667	122	107	SUCCESS
CEP192	55125	.	GRCh37	18	13017337	13017337	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	96	0	ENST00000506447.1:c.789+2T>C		p.X263_splice	ENST00000506447	NM_032142.3	263		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32792.2	.	RADIA|VARSCANS	.	ACAGGTGTGTT	NONE	.	.	.	.	.	ENSP00000427550	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	HIGH	7/44	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,splice_donor_variant,,ENST00000325971,;CEP192,splice_donor_variant,,ENST00000589596,;CEP192,splice_donor_variant,,ENST00000506447,;CEP192,splice_donor_variant,,ENST00000513432,;	.	96	39	SUCCESS
AQP4	361	.	GRCh37	18	24442273	24442273	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	86	0	ENST00000383168.4:c.320C>A	p.Thr107Asn	p.T107N	ENST00000383168	NM_001650.4	107	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS11889.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTGCAC	NONE	.	.	hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF34,Gene3D:1.20.1080.10,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338	.	.	ENSP00000372654	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000383168	Transcript	.	.	ENSG00000171885	637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.02)	.	AQP4_HUMAN	AQP4	HGNC	F1DSG4_HUMAN,B4DHF5_HUMAN	.	UPI0000125D1F	SNV	AQP4,missense_variant,p.Thr107Asn,ENST00000383168,;AQP4,missense_variant,p.Thr85Asn,ENST00000440832,;AQP4,missense_variant,p.Thr66Asn,ENST00000578776,;AQP4,missense_variant,p.Thr85Asn,ENST00000581374,;AQP4-AS1,intron_variant,,ENST00000582605,;AQP4-AS1,intron_variant,,ENST00000579964,;AQP4-AS1,upstream_gene_variant,,ENST00000578701,;AQP4-AS1,upstream_gene_variant,,ENST00000568797,;AQP4,upstream_gene_variant,,ENST00000583022,;AQP4,3_prime_UTR_variant,,ENST00000383170,;AQP4,non_coding_transcript_exon_variant,,ENST00000584088,;	449	86	43	SUCCESS
ARHGAP28	79822	.	GRCh37	18	6887166	6887166	+	synonymous_variant	Silent	SNP	C	C	T	rs745378361	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	168	0	ENST00000383472.4:c.1464C>T	p.His488=	p.H488=	ENST00000383472		488	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS32785.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACGTCAA	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14963:SF5,hmmpanther:PTHR14963,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000392660	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000419673	Transcript	.	.	ENSG00000088756	25509	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG28_HUMAN	ARHGAP28	HGNC	J3KTC0_HUMAN	.	UPI00004CEC5C	SNV	ARHGAP28,synonymous_variant,p.%3D,ENST00000418986,;ARHGAP28,synonymous_variant,p.%3D,ENST00000262227,;ARHGAP28,synonymous_variant,p.%3D,ENST00000419673,;ARHGAP28,synonymous_variant,p.%3D,ENST00000383472,;ARHGAP28,synonymous_variant,p.%3D,ENST00000400091,;ARHGAP28,synonymous_variant,p.%3D,ENST00000531294,;ARHGAP28,synonymous_variant,p.%3D,ENST00000532996,;ARHGAP28,synonymous_variant,p.%3D,ENST00000579689,;ARHGAP28,synonymous_variant,p.%3D,ENST00000314319,;ARHGAP28,downstream_gene_variant,,ENST00000579245,;	1204	168	97	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13920011	13920011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	24	0	ENST00000254323.2:c.989G>T	p.Cys330Phe	p.C330F	ENST00000254323	NM_023072.2	330	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS32924.1	989	MUTECT|MUSE	.	CAAGTGCCGGC	NONE	.	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.506)	.	deleterious(0.01)	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,missense_variant,p.Cys330Phe,ENST00000254323,;ZSWIM4,missense_variant,p.Cys47Phe,ENST00000440752,;ZSWIM4,missense_variant,p.Cys122Phe,ENST00000590508,;	1178	24	8	SUCCESS
MAP1S	55201	.	GRCh37	19	17831786	17831786	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	103	0	ENST00000324096.4:c.160G>C	p.Asp54His	p.D54H	ENST00000324096	NM_018174.4	54	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS32954.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTGATGAA	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0)	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,missense_variant,p.Asp54His,ENST00000597735,;MAP1S,missense_variant,p.Asp54His,ENST00000594625,;MAP1S,missense_variant,p.Asp28His,ENST00000544059,;MAP1S,missense_variant,p.Asp54His,ENST00000324096,;MAP1S,intron_variant,,ENST00000600186,;MAP1S,non_coding_transcript_exon_variant,,ENST00000594340,;MAP1S,non_coding_transcript_exon_variant,,ENST00000599494,;MAP1S,non_coding_transcript_exon_variant,,ENST00000601544,;MAP1S,non_coding_transcript_exon_variant,,ENST00000595338,;MAP1S,non_coding_transcript_exon_variant,,ENST00000597067,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598916,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,stop_lost,p.Ter80SerextTer1,ENST00000594365,;MAP1S,missense_variant,p.Asp54His,ENST00000600608,;MAP1S,3_prime_UTR_variant,,ENST00000596637,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598769,;MAP1S,intron_variant,,ENST00000594212,;MAP1S,intron_variant,,ENST00000593593,;	311	103	92	SUCCESS
PDCD2L	84306	.	GRCh37	19	34916969	34916969	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	170	0	ENST00000246535.3:c.1021C>G	p.Pro341Ala	p.P341A	ENST00000246535	NM_032346.1	341	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS12438.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTCCCATG	NONE	.	.	hmmpanther:PTHR12298,Pfam_domain:PF04194	.	.	ENSP00000246535	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000246535	Transcript	.	.	ENSG00000126249	28194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0.04)	.	PDD2L_HUMAN	PDCD2L	HGNC	U3KQL1_HUMAN	.	UPI0000038A65	SNV	PDCD2L,missense_variant,p.Pro39Ala,ENST00000587065,;PDCD2L,missense_variant,p.Pro341Ala,ENST00000246535,;UBA2,upstream_gene_variant,,ENST00000439527,;UBA2,upstream_gene_variant,,ENST00000246548,;UBA2,upstream_gene_variant,,ENST00000590048,;CTD-2588C8.8,downstream_gene_variant,,ENST00000592220,;RN7SL154P,upstream_gene_variant,,ENST00000578043,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000589589,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000587385,;PDCD2L,downstream_gene_variant,,ENST00000585821,;UBA2,upstream_gene_variant,,ENST00000607361,;UBA2,upstream_gene_variant,,ENST00000592841,;UBA2,upstream_gene_variant,,ENST00000586313,;	1068	170	60	SUCCESS
ZNF565	147929	.	GRCh37	19	36692951	36692951	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	178	0	ENST00000355114.5:c.57A>G		p.X19_splice	ENST00000355114		19	ggA/ggG	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12491.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTCCTGA	NONE	.	.	.	.	.	ENSP00000376013	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000392173	Transcript	.	.	ENSG00000196357	26726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN565_HUMAN	ZNF565	HGNC	K7ESE2_HUMAN,K7EL42_HUMAN	.	UPI000006E728	SNV	ZNF565,synonymous_variant,p.%3D,ENST00000355114,;ZNF565,splice_region_variant,,ENST00000585994,;ZNF565,splice_region_variant,,ENST00000304116,;ZNF565,splice_region_variant,,ENST00000392173,;ZNF565,intron_variant,,ENST00000591473,;Y_RNA,downstream_gene_variant,,ENST00000363309,;ZNF565,splice_region_variant,,ENST00000586648,;ZNF565,intron_variant,,ENST00000587803,;	196	178	63	SUCCESS
DLL3	10683	.	GRCh37	19	39996002	39996002	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	152	0	ENST00000205143.4:c.1004C>G	p.Ser335Cys	p.S335C	ENST00000205143	NM_016941.3	335	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS12538.1	1004	MUSE|VARSCANS	.	TGACTCTGCCT	NONE	.	.	Prints_domain:PR00010,Superfamily_domains:SSF57196,SMART_domains:SM00179,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF00008,hmmpanther:PTHR24838:SF115,hmmpanther:PTHR24838,PROSITE_profiles:PS50026	.	.	ENSP00000205143	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000205143	Transcript	1	.	ENSG00000090932	2909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	DLL3_HUMAN	DLL3	HGNC	.	.	UPI0000051041	SNV	DLL3,missense_variant,p.Ser335Cys,ENST00000205143,;DLL3,missense_variant,p.Ser335Cys,ENST00000356433,;DLL3,intron_variant,,ENST00000596614,;DLL3,non_coding_transcript_exon_variant,,ENST00000600437,;	1011	152	101	SUCCESS
PRX	57716	.	GRCh37	19	40903901	40903901	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	60	0	ENST00000324001.7:c.382-24C>A		p.*128*	ENST00000324001	NM_181882.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33028.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGAGGCG	NONE	.	.	.	.	.	ENSP00000326018	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324001	Transcript	1	.	ENSG00000105227	13797	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRAX_HUMAN	PRX	HGNC	.	.	UPI000044CC1A	SNV	PRX,3_prime_UTR_variant,,ENST00000291825,;PRX,intron_variant,,ENST00000324001,;	.	60	38	SUCCESS
ZNF227	7770	.	GRCh37	19	44739856	44739856	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	101	1	ENST00000313040.7:c.1273A>T	p.Ile425Phe	p.I425F	ENST00000313040	NM_182490.1	425	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS12636.1	1273	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACATCCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	tolerated(0.05)	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	SNV	ZNF227,missense_variant,p.Ile374Phe,ENST00000589005,;ZNF227,missense_variant,p.Ile425Phe,ENST00000313040,;ZNF227,missense_variant,p.Ile374Phe,ENST00000391961,;ZNF227,downstream_gene_variant,,ENST00000588394,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	1478	102	41	SUCCESS
ZNF578	147660	.	GRCh37	19	53014087	53014087	+	synonymous_variant	Silent	SNP	T	T	A	rs556778715	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	45	397	0	ENST00000421239.2:c.453T>A	p.Pro151=	p.P151=	ENST00000421239	NM_001099694.1	151	ccT/ccA	0	.	C:0	.	C:0	.	A	P	protein_coding	YES	CCDS54310.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTATTAA	NONE	by1000G	.	hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12	C:0	.	ENSP00000459216	C:0	6/6	.	.	.	.	.	.	.	.	rs556778715	6/6	PASS	ENST00000421239	Transcript	.	C:0.0002	ENSG00000258405	26449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,synonymous_variant,p.%3D,ENST00000421239,;ZNF578,synonymous_variant,p.%3D,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	697	397	153	SUCCESS
ZNF845	91664	.	GRCh37	19	53854648	53854648	+	synonymous_variant	Silent	SNP	G	G	A	rs751815256	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	7	281	0	ENST00000458035.1:c.720G>A	p.Ala240=	p.A240=	ENST00000458035	NM_138374.1	240	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46170.1	720	MUTECT|MUSE	.	GGAGCGAAACA	NONE	byFrequency	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50157	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	rs751815256	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,synonymous_variant,p.%3D,ENST00000595091,;ZNF845,synonymous_variant,p.%3D,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	837	281	127	SUCCESS
TSEN34	79042	.	GRCh37	19	54695669	54695669	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	53	0	ENST00000302937.4:c.341A>G	p.Glu114Gly	p.E114G	ENST00000302937	NM_024075.3	114	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS42609.1	341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAGAAGA	NONE	.	.	PIRSF_domain:PIRSF017250,hmmpanther:PTHR13070	.	.	ENSP00000379667	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.08)	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,missense_variant,p.Glu114Gly,ENST00000396383,;TSEN34,missense_variant,p.Glu114Gly,ENST00000455798,;TSEN34,missense_variant,p.Glu117Gly,ENST00000456872,;TSEN34,missense_variant,p.Glu114Gly,ENST00000396388,;TSEN34,missense_variant,p.Glu114Gly,ENST00000429671,;TSEN34,missense_variant,p.Glu114Gly,ENST00000302937,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;	652	54	41	SUCCESS
SLC25A23	79085	.	GRCh37	19	6458301	6458301	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	11	28	0	ENST00000301454.4:c.191G>A	p.Gly64Asp	p.G64D	ENST00000301454	NM_024103.2	64	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32882.1	191	RADIA|MUTECT|MUSE	.	GCCCGCCATCT	NONE	.	.	Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000301454	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000301454	Transcript	.	.	ENSG00000125648	19375	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.606)	.	tolerated(0.05)	.	SCMC3_HUMAN	SLC25A23	HGNC	M0R1X8_HUMAN	.	UPI0000049FAD	SNV	SLC25A23,missense_variant,p.Gly64Asp,ENST00000301454,;SLC25A23,missense_variant,p.Gly64Asp,ENST00000334510,;SLC25A23,5_prime_UTR_variant,,ENST00000597307,;SLC25A23,upstream_gene_variant,,ENST00000601322,;SLC25A23,upstream_gene_variant,,ENST00000598908,;SLC25A23,upstream_gene_variant,,ENST00000414491,;SLC25A23,upstream_gene_variant,,ENST00000595810,;SLC25A23,upstream_gene_variant,,ENST00000593600,;SLC25A23,upstream_gene_variant,,ENST00000600682,;SLC25A23,missense_variant,p.Gly64Asp,ENST00000264088,;SLC25A23,non_coding_transcript_exon_variant,,ENST00000595267,;	298	28	12	SUCCESS
MTOR	2475	.	GRCh37	1	11169374	11169374	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	9	184	0	ENST00000361445.4:c.7501A>T	p.Ile2501Phe	p.I2501F	ENST00000361445	NM_004958.3	2501	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS127.1	7501	MUTECT|MUSE|VARSCANS	.	GTTAATAATCT	BUFFER|p.I2500M|c.7500T>G|4	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63	.	.	ENSP00000354558	.	56/58	.	.	.	.	.	.	.	.	COSM4140746	56/58	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.86)	.	deleterious(0.01)	1	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,missense_variant,p.Ile2501Phe,ENST00000361445,;MTOR,missense_variant,p.Ile157Phe,ENST00000455339,;MTOR,missense_variant,p.Ile706Phe,ENST00000376838,;MTOR,non_coding_transcript_exon_variant,,ENST00000490931,;MTOR,non_coding_transcript_exon_variant,,ENST00000473471,;	7578	184	98	SUCCESS
UBE2Q1	55585	.	GRCh37	1	154527970	154527970	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	129	0	ENST00000292211.4:c.471T>G	p.Cys157Trp	p.C157W	ENST00000292211	NM_017582.6	157	tgT/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS1069.1	471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTACACAG	NONE	.	.	hmmpanther:PTHR24068:SF46,hmmpanther:PTHR24068	.	.	ENSP00000292211	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000292211	Transcript	.	.	ENSG00000160714	15698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	UB2Q1_HUMAN	UBE2Q1	HGNC	Q29SN7_HUMAN	.	UPI00001A36E2	SNV	UBE2Q1,missense_variant,p.Cys157Trp,ENST00000292211,;UBE2Q1-AS1,downstream_gene_variant,,ENST00000441613,;UBE2Q1,non_coding_transcript_exon_variant,,ENST00000497453,;UBE2Q1,upstream_gene_variant,,ENST00000491572,;UBE2Q1,upstream_gene_variant,,ENST00000476612,;UBE2Q1,upstream_gene_variant,,ENST00000467683,;UBE2Q1,upstream_gene_variant,,ENST00000483639,;UBE2Q1,upstream_gene_variant,,ENST00000474181,;	551	129	116	SUCCESS
PBX1	5087	.	GRCh37	1	164781342	164781342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	21	221	0	ENST00000420696.2:c.953C>A	p.Ala318Asp	p.A318D	ENST00000420696	NM_002585.3	318	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS1246.1	953	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCCCATG	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58	.	.	ENSP00000405890	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.082)	.	tolerated(0.07)	.	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,missense_variant,p.Ala318Asp,ENST00000540236,;PBX1,missense_variant,p.Ala213Asp,ENST00000560641,;PBX1,missense_variant,p.Ala318Asp,ENST00000367897,;PBX1,missense_variant,p.Ala318Asp,ENST00000420696,;PBX1,missense_variant,p.Ala213Asp,ENST00000540246,;PBX1,missense_variant,p.Ala318Asp,ENST00000401534,;PBX1,intron_variant,,ENST00000559240,;PBX1,downstream_gene_variant,,ENST00000558837,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,upstream_gene_variant,,ENST00000465089,;	1141	221	158	SUCCESS
TDRD5	163589	.	GRCh37	1	179631316	179631316	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	41	97	0	ENST00000294848.8:c.2238T>A	p.Pro746=	p.P746=	ENST00000294848	NM_173533.3	746	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS55663.1	2400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTCTACA	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000417329,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;	2650	97	70	SUCCESS
LAMC1	3915	.	GRCh37	1	183111719	183111719	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	50	0	ENST00000258341.4:c.4624C>G	p.Leu1542Val	p.L1542V	ENST00000258341	NM_002293.3	1542	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS1351.1	4624	RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCTAAAC	NONE	.	.	hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574	.	.	ENSP00000258341	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,missense_variant,p.Leu1542Val,ENST00000258341,;RP11-181K3.4,upstream_gene_variant,,ENST00000457852,;LAMC1,downstream_gene_variant,,ENST00000495918,;	4881	50	43	SUCCESS
COLGALT2	23127	.	GRCh37	1	183944304	183944304	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768723326	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	59	0	ENST00000361927.4:c.419G>A	p.Arg140Gln	p.R140Q	ENST00000361927	NM_015101.2	140	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1360.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACCGGGAG	NONE	byFrequency	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF13704,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	3/12	.	.	.	.	.	.	.	.	rs768723326,COSM1337056	3/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.981)	.	deleterious(0)	0,1	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,missense_variant,p.Arg140Gln,ENST00000361927,;COLGALT2,missense_variant,p.Arg140Gln,ENST00000546159,;	791	59	51	SUCCESS
CNTN2	6900	.	GRCh37	1	205039578	205039578	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	43	0	ENST00000331830.4:c.2456T>C	p.Val819Ala	p.V819A	ENST00000331830	NM_005076.3	819	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1449.1	2456	MUTECT|MUSE|VARSCANS	.	CAAGGTGTGGG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50853	.	.	ENSP00000330633	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.617)	.	deleterious(0)	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,missense_variant,p.Val819Ala,ENST00000331830,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,upstream_gene_variant,,ENST00000525433,;CNTN2,downstream_gene_variant,,ENST00000530594,;	2740	43	30	SUCCESS
CR1	1378	.	GRCh37	1	207789962	207789962	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	41	368	0	ENST00000367051.1:c.5354A>T	p.His1785Leu	p.H1785L	ENST00000367051		1785	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS44308.1	6704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACACACAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	41/47	.	.	.	.	.	.	.	.	.	41/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.His1785Leu,ENST00000367051,;CR1,missense_variant,p.His1785Leu,ENST00000367052,;CR1,missense_variant,p.His2235Leu,ENST00000367049,;CR1,missense_variant,p.His1785Leu,ENST00000400960,;CR1,missense_variant,p.His408Leu,ENST00000529814,;CR1,missense_variant,p.His1785Leu,ENST00000367053,;	6704	368	161	SUCCESS
OBSCN	84033	.	GRCh37	1	228511096	228511096	+	synonymous_variant	Silent	SNP	C	C	T	rs753088901	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	25	141	0	ENST00000422127.1:c.15441C>T	p.Cys5147=	p.C5147=	ENST00000422127	NM_001098623.2	5147	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS59204.1	18312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCGTGGT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	67/116	.	.	.	.	.	.	.	.	rs753088901,COSM4029203,COSM4029204,COSM4029202	67/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	18386	141	132	SUCCESS
KIF26B	55083	.	GRCh37	1	245862258	245862258	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs996759727	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	65	112	1	ENST00000407071.2:c.6097G>A	p.Ala2033Thr	p.A2033T	ENST00000407071	NM_018012.3	2033	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS44342.1	6097	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCGCGAAG	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Ala2033Thr,ENST00000407071,;KIF26B,missense_variant,p.Ala1652Thr,ENST00000366518,;	6537	113	88	SUCCESS
OR2L8	391190	.	GRCh37	1	248112614	248112614	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs536751971	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	372	105	642	0	ENST00000357191.3:c.455C>A	p.Ser152Ter	p.S152*	ENST00000357191	NM_001001963.1	152	tCg/tAg	0	.	G:0	.	G:0	.	A	S/*	protein_coding	YES	CCDS31101.1	455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCGATCA	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G:0	.	ENSP00000349719	G:0	1/1	.	.	.	.	.	.	.	.	rs536751971,COSM363189	1/1	PASS	ENST00000357191	Transcript	.	G:0.0002	ENSG00000196936	15014	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	G:0.001	.	0,1	OR2L8_HUMAN	OR2L8	HGNC	.	.	UPI0000061E5D	SNV	OR2L8,stop_gained,p.Ser152Ter,ENST00000357191,;OR2L13,intron_variant,,ENST00000366478,;	455	643	478	SUCCESS
OR2T33	391195	.	GRCh37	1	248436686	248436686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	411	149	747	0	ENST00000318021.2:c.431T>C	p.Met144Thr	p.M144T	ENST00000318021	NM_001004695.1	144	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS31109.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACATGGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF83,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000324687	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318021	Transcript	.	.	ENSG00000177212	31255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.17)	.	O2T33_HUMAN	OR2T33	HGNC	.	.	UPI000004B237	SNV	OR2T33,missense_variant,p.Met144Thr,ENST00000318021,;	453	747	561	SUCCESS
COL16A1	1307	.	GRCh37	1	32151735	32151735	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	61	168	0	ENST00000373672.3:c.1841G>A	p.Gly614Glu	p.G614E	ENST00000373672	NM_001856.3	614	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS41297.1	1841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCCCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,Pfam_domain:PF01391	.	.	ENSP00000362776	.	28/71	.	.	.	.	.	.	.	.	.	28/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Gly614Glu,ENST00000373672,;COL16A1,missense_variant,p.Gly613Glu,ENST00000271069,;COL16A1,missense_variant,p.Gly614Glu,ENST00000373668,;COL16A1,upstream_gene_variant,,ENST00000458715,;COL16A1,downstream_gene_variant,,ENST00000373667,;COL16A1,splice_region_variant,,ENST00000482478,;COL16A1,splice_region_variant,,ENST00000529928,;COL16A1,splice_region_variant,,ENST00000474000,;	2358	168	112	SUCCESS
ZMYM4	9202	.	GRCh37	1	35852772	35852772	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	147	0	ENST00000314607.6:c.2005C>T	p.Leu669Phe	p.L669F	ENST00000314607	NM_005095.2	669	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS389.1	2005	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCTCGCT	NONE	.	.	hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.465)	.	tolerated(0.53)	.	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,missense_variant,p.Leu329Phe,ENST00000457946,;ZMYM4,missense_variant,p.Leu580Phe,ENST00000373297,;ZMYM4,missense_variant,p.Leu669Phe,ENST00000314607,;	2085	147	77	SUCCESS
COL8A2	1296	.	GRCh37	1	36565805	36565805	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	50	0	ENST00000303143.4:c.39G>A	p.Leu13=	p.L13=	ENST00000303143	NM_005202.2	13	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS403.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000380901	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000397799	Transcript	.	.	ENSG00000171812	2216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO8A2_HUMAN	COL8A2	HGNC	R9UH34_HUMAN,Q4VAQ1_HUMAN,E9PP49_HUMAN	.	UPI00001B2F2D	SNV	COL8A2,synonymous_variant,p.%3D,ENST00000303143,;COL8A2,synonymous_variant,p.%3D,ENST00000397799,;COL8A2,5_prime_UTR_variant,,ENST00000481785,;	264	50	23	SUCCESS
AJAP1	55966	.	GRCh37	1	4772503	4772503	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	25	0	ENST00000378190.3:c.573C>G	p.Ala191=	p.A191=	ENST00000378190	NM_001042478.1	191	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS54.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCTGGA	NONE	.	.	Pfam_domain:PF15298,hmmpanther:PTHR32422	.	.	ENSP00000367433	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,synonymous_variant,p.%3D,ENST00000378191,;AJAP1,synonymous_variant,p.%3D,ENST00000378190,;AJAP1,downstream_gene_variant,,ENST00000466761,;	954	25	26	SUCCESS
C8A	731	.	GRCh37	1	57320511	57320511	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	44	382	0	ENST00000361249.3:c.-64C>G		p.*22*	ENST00000361249	NM_000562.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS606.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCCAATT	NONE	.	.	.	.	.	ENSP00000354458	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	SNV	C8A,5_prime_UTR_variant,,ENST00000361249,;	33	382	166	SUCCESS
INSL5	10022	.	GRCh37	1	67266850	67266850	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	147	0	ENST00000304526.2:c.55G>T	p.Glu19Ter	p.E19*	ENST00000304526	NM_005478.4	19	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS634.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCTGAGA	NONE	.	.	Superfamily_domains:SSF56994,Gene3D:1.10.100.10,hmmpanther:PTHR20968:SF2,hmmpanther:PTHR20968,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000302724	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000304526	Transcript	.	.	ENSG00000172410	6088	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSL5_HUMAN	INSL5	HGNC	.	.	UPI000013E991	SNV	INSL5,stop_gained,p.Glu19Ter,ENST00000304526,;	90	147	54	SUCCESS
DEPDC1	55635	.	GRCh37	1	68955231	68955232	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	316	31	498	0	ENST00000456315.2:c.374dup	p.Asn125LysfsTer10	p.N125Kfs*10	ENST00000456315	NM_001114120.1	125	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS44159.1	374-375	VARSCANI*|PINDEL	.	ATGTTGTTTTT	NONE	.	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12,Gene3D:1.10.10.10,Superfamily_domains:SSF46785	.	.	ENSP00000412292	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000456315	Transcript	.	.	ENSG00000024526	22949	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	insertion	DEPDC1,frameshift_variant,p.Asn125LysfsTer10,ENST00000456315,;DEPDC1,frameshift_variant,p.Asn125LysfsTer10,ENST00000370966,;DEPDC1,5_prime_UTR_variant,,ENST00000525124,;DEPDC1,intron_variant,,ENST00000489862,;	489-490	498	347	SUCCESS
ANKRD13C	81573	.	GRCh37	1	70740488	70740488	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	23	164	0	ENST00000370944.4:c.1309G>C	p.Gly437Arg	p.G437R	ENST00000370944	NM_030816.4	437	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS648.2	1309	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCCAGAT	NONE	.	.	Pfam_domain:PF11904,hmmpanther:PTHR12447:SF1,hmmpanther:PTHR12447	.	.	ENSP00000359982	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000370944	Transcript	.	.	ENSG00000118454	25374	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	AN13C_HUMAN	ANKRD13C	HGNC	.	.	UPI0000140CE0	SNV	ANKRD13C,missense_variant,p.Gly437Arg,ENST00000370944,;ANKRD13C,missense_variant,p.Gly402Arg,ENST00000262346,;ANKRD13C,non_coding_transcript_exon_variant,,ENST00000464236,;	1623	164	121	SUCCESS
DSN1	79980	.	GRCh37	20	35383170	35383170	+	synonymous_variant	Silent	SNP	C	C	T	rs1405453170	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	74	1	ENST00000373750.4:c.957G>A	p.Gln319=	p.Q319=	ENST00000373750	NM_001145315.1	319	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13286.1	957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGCTGTAC	NONE	.	.	hmmpanther:PTHR14778,Pfam_domain:PF08202	.	.	ENSP00000389810	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000426836	Transcript	.	.	ENSG00000149636	16165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSN1_HUMAN	DSN1	HGNC	Q5JW58_HUMAN,Q5JW57_HUMAN,Q5JW53_HUMAN	.	UPI0000128621	SNV	DSN1,synonymous_variant,p.%3D,ENST00000373745,;DSN1,synonymous_variant,p.%3D,ENST00000373734,;DSN1,synonymous_variant,p.%3D,ENST00000448110,;DSN1,synonymous_variant,p.%3D,ENST00000373740,;DSN1,synonymous_variant,p.%3D,ENST00000426836,;DSN1,synonymous_variant,p.%3D,ENST00000373750,;DSN1,downstream_gene_variant,,ENST00000447406,;DSN1,downstream_gene_variant,,ENST00000438549,;DSN1,non_coding_transcript_exon_variant,,ENST00000473615,;DSN1,downstream_gene_variant,,ENST00000492703,;DSN1,non_coding_transcript_exon_variant,,ENST00000480153,;	1330	75	65	SUCCESS
OPRL1	4987	.	GRCh37	20	62729669	62729676	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGGGCC	CTGGGGCC	-	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	CTGGGGCC	CTGGGGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	216	26	279	0	ENST00000336866.2:c.631_638del	p.Trp211GlyfsTer111	p.W211Gfs*111	ENST00000336866	NM_182647.2	210	taCTGGGGCCcg/tacg	0	.	.	.	.	.	-	YWGP/YX	protein_coding	YES	CCDS13556.1	630-637	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATTACTGGGGCCCGGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF11,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000336764	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000349451	Transcript	.	.	ENSG00000125510	8155	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OPRX_HUMAN	OPRL1	HGNC	.	.	UPI0000001C6D	deletion	OPRL1,frameshift_variant,p.Trp211GlyfsTer111,ENST00000336866,;OPRL1,frameshift_variant,p.Trp211GlyfsTer111,ENST00000355631,;OPRL1,frameshift_variant,p.Trp211GlyfsTer111,ENST00000349451,;	1042-1049	279	242	SUCCESS
BACH1	571	.	GRCh37	21	30699058	30699058	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764486069	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	91	0	ENST00000286800.3:c.913G>A	p.Glu305Lys	p.E305K	ENST00000286800	NM_001186.2	305	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13585.1	913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCAGAAGTG	NONE	.	.	.	.	.	ENSP00000382805	.	3/5	.	.	.	.	.	.	.	.	rs764486069	3/5	PASS	ENST00000399921	Transcript	.	.	ENSG00000156273	935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.15)	.	BACH1_HUMAN	BACH1	HGNC	Q6ICU0_HUMAN,F8VZL7_HUMAN,C9JMP6_HUMAN,C9IYR0_HUMAN,C9IYH8_HUMAN	.	UPI000012673F	SNV	BACH1,missense_variant,p.Glu305Lys,ENST00000286800,;BACH1,missense_variant,p.Glu305Lys,ENST00000399921,;BACH1,downstream_gene_variant,,ENST00000451655,;BACH1,upstream_gene_variant,,ENST00000468059,;BACH1,downstream_gene_variant,,ENST00000447177,;BACH1,upstream_gene_variant,,ENST00000422809,;BACH1,downstream_gene_variant,,ENST00000435072,;	1156	91	22	SUCCESS
AIRE	326	.	GRCh37	21	45712255	45712255	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376901046	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	63	0	ENST00000291582.5:c.1066C>T	p.Arg356Trp	p.R356W	ENST00000291582	NM_000383.3	356	Cgg/Tgg	0	T:0	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS13706.1	1066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCGGCCC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15	T:0	T:0.0004	ENSP00000291582	T:0	9/14	.	.	.	.	.	.	.	.	rs376901046	9/14	PASS	ENST00000291582	Transcript	.	T:0.0002	ENSG00000160224	360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	T:0.001	deleterious(0)	.	AIRE_HUMAN	AIRE	HGNC	.	.	UPI0000030FA6	SNV	AIRE,missense_variant,p.Arg149Trp,ENST00000329347,;AIRE,missense_variant,p.Arg356Trp,ENST00000291582,;AIRE,missense_variant,p.Arg149Trp,ENST00000355347,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,non_coding_transcript_exon_variant,,ENST00000337909,;AIRE,non_coding_transcript_exon_variant,,ENST00000397994,;	1193	63	29	SUCCESS
PI4KA	5297	.	GRCh37	22	21161719	21161719	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs542084506	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	118	0	ENST00000255882.6:c.1099A>G	p.Thr367Ala	p.T367A	ENST00000255882	NM_058004.3	367	Act/Gct	0	.	C:0.0008	.	C:0	.	C	T/A	protein_coding	YES	CCDS33603.2	1099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTGTAGT	NONE	by1000G	.	.	C:0	.	ENSP00000255882	C:0	10/55	.	.	.	.	.	.	.	.	rs542084506	10/55	PASS	ENST00000255882	Transcript	.	C:0.0002	ENSG00000241973	8983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	C:0	tolerated(0.07)	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,missense_variant,p.Thr309Ala,ENST00000572273,;PI4KA,missense_variant,p.Thr367Ala,ENST00000255882,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485963,;	1186	118	50	SUCCESS
TCF20	6942	.	GRCh37	22	42607990	42607990	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	62	0	ENST00000359486.3:c.3322G>C	p.Val1108Leu	p.V1108L	ENST00000359486	NM_005650.2	1108	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS14033.1	3322	RADIA|MUTECT|MUSE|VARSCANS	.	AATTACTCCCT	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.78)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Val1108Leu,ENST00000335626,;TCF20,missense_variant,p.Val1108Leu,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	3459	62	47	SUCCESS
GRHL1	29841	.	GRCh37	2	10132262	10132262	+	synonymous_variant	Silent	SNP	G	G	A	rs1325996302	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	58	141	0	ENST00000324907.9:c.1449G>A	p.Gln483=	p.Q483=	ENST00000324907	NM_198182.2	483	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS33144.2	1449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAGCGGGG	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF16	.	.	ENSP00000324693	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000324907	Transcript	.	.	ENSG00000134317	17923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRHL1_HUMAN	GRHL1	HGNC	F8WFB0_HUMAN,C9JYY8_HUMAN	.	UPI00001E0586	SNV	GRHL1,synonymous_variant,p.%3D,ENST00000405379,;GRHL1,synonymous_variant,p.%3D,ENST00000324907,;GRHL1,synonymous_variant,p.%3D,ENST00000324883,;GRHL1,upstream_gene_variant,,ENST00000480736,;GRHL1,missense_variant,p.Ser492Asn,ENST00000472167,;GRHL1,3_prime_UTR_variant,,ENST00000464418,;	1585	142	145	SUCCESS
GLI2	2736	.	GRCh37	2	121726310	121726310	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763688196	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	72	0	ENST00000361492.4:c.664C>T	p.Arg222Trp	p.R222W	ENST00000361492	NM_005270.4	222	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33283.1	664	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCGGGTG	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	6/14	.	.	.	.	.	.	.	.	rs763688196	6/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Arg222Trp,ENST00000452319,;GLI2,missense_variant,p.Ala84Val,ENST00000360874,;GLI2,missense_variant,p.Arg222Trp,ENST00000361492,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000433812,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000341310,;GLI2,intron_variant,,ENST00000452692,;GLI2,intron_variant,,ENST00000437950,;GLI2,intron_variant,,ENST00000445186,;	724	73	82	SUCCESS
THSD7B	80731	.	GRCh37	2	137928455	137928455	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1573865952	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	23	176	0	ENST00000272643.3:c.1670G>A	p.Gly557Glu	p.G557E	ENST00000272643		557	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	.	1670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGAAAAT	CODON|p.G526R|c.1576G>A|4,CODON|p.G557R|c.1669G>A|4	.	.	hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311	.	.	ENSP00000272643	.	6/28	.	.	.	.	.	.	.	.	COSM3406899,COSM3566933,COSM3406900,COSM3566934	6/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.969)	.	tolerated(0.17)	1,1,1,1	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Gly557Glu,ENST00000409968,;THSD7B,missense_variant,p.Gly526Glu,ENST00000413152,;THSD7B,missense_variant,p.Gly557Glu,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;THSD7B,non_coding_transcript_exon_variant,,ENST00000485379,;	1670	176	123	SUCCESS
LRP1B	53353	.	GRCh37	2	141264466	141264466	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	75	292	1	ENST00000389484.3:c.8420A>C	p.Glu2807Ala	p.E2807A	ENST00000389484	NM_018557.2	2807	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS2182.1	8420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTCATCA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	53/91	.	.	.	.	.	.	.	.	.	53/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Glu2807Ala,ENST00000389484,;	9392	293	170	SUCCESS
NEB	4703	.	GRCh37	2	152552146	152552146	+	synonymous_variant	Silent	SNP	G	G	C	rs776014034	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	14	308	0	ENST00000172853.10:c.1620C>G	p.Pro540=	p.P540=	ENST00000172853		540	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS54407.1	1620	MUTECT|MUSE|VARSCANS	.	TCAGGGGGGAT	NONE	byFrequency	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	18/182	.	.	.	.	.	.	.	.	rs776014034	18/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,synonymous_variant,p.%3D,ENST00000603639,;NEB,synonymous_variant,p.%3D,ENST00000172853,;NEB,synonymous_variant,p.%3D,ENST00000427231,;NEB,synonymous_variant,p.%3D,ENST00000397345,;NEB,synonymous_variant,p.%3D,ENST00000604864,;NEB,synonymous_variant,p.%3D,ENST00000409198,;NEB,non_coding_transcript_exon_variant,,ENST00000489048,;	1823	308	142	SUCCESS
TTN	7273	.	GRCh37	2	179588199	179588199	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	32	245	0	ENST00000591111.1:c.20677G>A	p.Val6893Met	p.V6893M	ENST00000591111		6893	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS59435.1	21628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCACACAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	74/363	.	.	.	.	.	.	.	.	.	74/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val5966Met,ENST00000342992,;TTN,missense_variant,p.Val6893Met,ENST00000591111,;TTN,missense_variant,p.Val7210Met,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;	21853	245	105	SUCCESS
TTN	7273	.	GRCh37	2	179638382	179638382	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757495201	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	12	410	0	ENST00000591111.1:c.7401G>T	p.Lys2467Asn	p.K2467N	ENST00000591111		2467	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS59435.1	7401	MUTECT|MUSE	.	GACACCTTACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	32/363	.	.	.	.	.	.	.	.	rs757495201	32/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys2467Asn,ENST00000360870,;TTN,missense_variant,p.Lys2421Asn,ENST00000359218,;TTN,missense_variant,p.Lys2467Asn,ENST00000342992,;TTN,missense_variant,p.Lys2421Asn,ENST00000342175,;TTN,missense_variant,p.Lys2467Asn,ENST00000589042,;TTN,missense_variant,p.Lys2467Asn,ENST00000591111,;TTN,missense_variant,p.Lys2421Asn,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000584485,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;	7626	410	227	SUCCESS
TTN	7273	.	GRCh37	2	179659228	179659228	+	synonymous_variant	Silent	SNP	G	G	C	rs549880126	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	165	0	ENST00000591111.1:c.1296C>G	p.Ala432=	p.A432=	ENST00000591111		432	gcC/gcG	0	.	A:0	.	A:0	.	C	A	protein_coding	YES	CCDS59435.1	1296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACGGCAGC	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF09042,Gene3D:1.20.5.510	A:0	.	ENSP00000467141	A:0	8/363	.	.	.	.	.	.	.	.	rs549880126	8/363	PASS	ENST00000589042	Transcript	.	A:0.0002	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000436599,;TTN,synonymous_variant,p.%3D,ENST00000360870,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000470257,;	1521	165	92	SUCCESS
LBH	81606	.	GRCh37	2	30454487	30454487	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	52	0	ENST00000395323.3:c.-118C>A		p.*40*	ENST00000395323	NM_030915.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33173.1	.	MUTECT|MUSE	.	GCGAGCGCCCG	NONE	.	.	.	.	.	ENSP00000378733	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000395323	Transcript	.	.	ENSG00000213626	29532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LBH_HUMAN	LBH	HGNC	F8WC18_HUMAN,B5MBX5_HUMAN	.	UPI0000034E08	SNV	LBH,5_prime_UTR_variant,,ENST00000395323,;LBH,5_prime_UTR_variant,,ENST00000404397,;LBH,5_prime_UTR_variant,,ENST00000406087,;LBH,upstream_gene_variant,,ENST00000401506,;LBH,upstream_gene_variant,,ENST00000407930,;LBH,non_coding_transcript_exon_variant,,ENST00000464412,;LBH,upstream_gene_variant,,ENST00000467242,;LBH,upstream_gene_variant,,ENST00000484150,;LBH,5_prime_UTR_variant,,ENST00000412933,;	91	52	51	SUCCESS
NLRC4	58484	.	GRCh37	2	32466120	32466120	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	12	140	0	ENST00000360906.5:c.2332G>C	p.Glu778Gln	p.E778Q	ENST00000360906	NM_001199139.1	778	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS33174.1	2332	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCTTCAT	NONE	.	.	hmmpanther:PTHR10044:SF97,hmmpanther:PTHR10044,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000385090	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000404025	Transcript	.	.	ENSG00000091106	16412	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.54)	.	NLRC4_HUMAN	NLRC4	HGNC	.	.	UPI0000126FAD	SNV	NLRC4,missense_variant,p.Glu778Gln,ENST00000402280,;NLRC4,missense_variant,p.Glu778Gln,ENST00000360906,;NLRC4,missense_variant,p.Glu113Gln,ENST00000342905,;NLRC4,missense_variant,p.Glu778Gln,ENST00000404025,;	2821	140	117	SUCCESS
IGSF11	152404	.	GRCh37	3	118649063	118649063	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	6	159	0	ENST00000393775.2:c.112C>A	p.Gln38Lys	p.Q38K	ENST00000393775	NM_001015887.1	38	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS46891.1	112	MUTECT|MUSE	.	TGGCTGACCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF74,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000377370	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000393775	Transcript	.	.	ENSG00000144847	16669	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.141)	.	deleterious(0.02)	.	IGS11_HUMAN	IGSF11	HGNC	C9JAD3_HUMAN,C9IZX3_HUMAN	.	UPI000013D9B3	SNV	IGSF11,missense_variant,p.Gln37Lys,ENST00000425327,;IGSF11,missense_variant,p.Gln37Lys,ENST00000354673,;IGSF11,missense_variant,p.Gln38Lys,ENST00000489689,;IGSF11,missense_variant,p.Gln37Lys,ENST00000441144,;IGSF11,missense_variant,p.Gln38Lys,ENST00000393775,;IGSF11,missense_variant,p.Gln38Lys,ENST00000491903,;IGSF11,5_prime_UTR_variant,,ENST00000483401,;IGSF11,5_prime_UTR_variant,,ENST00000480431,;IGSF11,non_coding_transcript_exon_variant,,ENST00000459718,;	418	159	110	SUCCESS
DNAJB8	165721	.	GRCh37	3	128181899	128181899	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	11	165	0	ENST00000319153.3:c.190C>T	p.Leu64=	p.L64=	ENST00000319153	NM_153330.3	64	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3048.1	190	RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGGGAGC	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242,PROSITE_patterns:PS00636,Gene3D:1.10.287.110,Pfam_domain:PF00226,Superfamily_domains:SSF46565,Prints_domain:PR00625	.	.	ENSP00000417418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000469083	Transcript	.	.	ENSG00000179407	23699	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DNJB8_HUMAN	DNAJB8	HGNC	.	.	UPI0000129437	SNV	DNAJB8,synonymous_variant,p.%3D,ENST00000319153,;DNAJB8,synonymous_variant,p.%3D,ENST00000469083,;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;	2748	165	99	SUCCESS
PLXND1	23129	.	GRCh37	3	129303388	129303388	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	39	75	0	ENST00000324093.4:c.1869C>T	p.Ile623=	p.I623=	ENST00000324093	NM_015103.2	623	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33854.1	1869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAGATCTG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7	.	.	ENSP00000317128	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,synonymous_variant,p.%3D,ENST00000393239,;PLXND1,synonymous_variant,p.%3D,ENST00000324093,;PLXND1,downstream_gene_variant,,ENST00000505237,;PLXND1,intron_variant,,ENST00000505665,;	2048	75	82	SUCCESS
SLCO2A1	6578	.	GRCh37	3	133673915	133673915	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	127	0	ENST00000310926.4:c.520G>A	p.Val174Met	p.V174M	ENST00000310926	NM_005630.2	174	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3084.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACCATCA	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF03137,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix	.	.	ENSP00000311291	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000310926	Transcript	.	.	ENSG00000174640	10955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.09)	.	SO2A1_HUMAN	SLCO2A1	HGNC	Q4LEJ9_HUMAN	.	UPI000013F0AD	SNV	SLCO2A1,missense_variant,p.Val174Met,ENST00000310926,;SLCO2A1,intron_variant,,ENST00000493729,;SLCO2A1,downstream_gene_variant,,ENST00000478651,;SLCO2A1,missense_variant,p.Val174Met,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000464676,;SLCO2A1,intron_variant,,ENST00000462770,;	794	127	113	SUCCESS
PHC3	80012	.	GRCh37	3	169846627	169846627	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	181	0	ENST00000494943.1:c.1597C>G	p.Gln533Glu	p.Q533E	ENST00000494943		533	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS46952.1	1633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGGGACA	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF20	.	.	ENSP00000420294	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000495893	Transcript	.	.	ENSG00000173889	15682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.09)	.	PHC3_HUMAN	PHC3	HGNC	C9JYH7_HUMAN	.	UPI00004DF1A6	SNV	PHC3,missense_variant,p.Gln545Glu,ENST00000495893,;PHC3,missense_variant,p.Gln492Glu,ENST00000467570,;PHC3,missense_variant,p.Gln533Glu,ENST00000494943,;PHC3,downstream_gene_variant,,ENST00000484931,;PHC3,upstream_gene_variant,,ENST00000486042,;PHC3,downstream_gene_variant,,ENST00000497171,;	1665	181	76	SUCCESS
TOP2B	7155	.	GRCh37	3	25665077	25665077	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	56	417	0	ENST00000264331.4:c.2656C>T	p.Pro886Ser	p.P886S	ENST00000264331		886	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS46776.1	2641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGTAGTT	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Gene3D:3.90.199.10,Pfam_domain:PF00521,SMART_domains:SM00434,Superfamily_domains:SSF56719	.	.	ENSP00000396704	.	21/36	.	.	.	.	.	.	.	.	COSM1422207	21/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.749)	.	deleterious(0.01)	1	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,missense_variant,p.Pro886Ser,ENST00000264331,;TOP2B,missense_variant,p.Pro881Ser,ENST00000435706,;TOP2B,missense_variant,p.Pro881Ser,ENST00000424225,;TOP2B,upstream_gene_variant,,ENST00000542520,;TOP2B,upstream_gene_variant,,ENST00000413971,;TOP2B,downstream_gene_variant,,ENST00000491510,;TOP2B,downstream_gene_variant,,ENST00000470132,;	2843	417	240	SUCCESS
OXSM	54995	.	GRCh37	3	25835782	25835782	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	214	0	ENST00000280701.3:c.1177G>T	p.Val393Phe	p.V393F	ENST00000280701	NM_017897.2	393	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS2643.1	1177	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGTCGAG	NONE	.	.	hmmpanther:PTHR11712,TIGRFAM_domain:TIGR03150,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901	.	.	ENSP00000280701	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000280701	Transcript	.	.	ENSG00000151093	26063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.588)	.	deleterious(0)	.	OXSM_HUMAN	OXSM	HGNC	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN	.	UPI000004713F	SNV	OXSM,missense_variant,p.Val393Phe,ENST00000280701,;OXSM,missense_variant,p.Val310Phe,ENST00000420173,;NGLY1,upstream_gene_variant,,ENST00000417874,;OXSM,downstream_gene_variant,,ENST00000452098,;OXSM,downstream_gene_variant,,ENST00000428266,;OXSM,downstream_gene_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,3_prime_UTR_variant,,ENST00000448177,;	1276	214	104	SUCCESS
PRSS50	29122	.	GRCh37	3	46755769	46755769	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	56	96	0	ENST00000315170.7:c.693C>T	p.Asp231=	p.D231=	ENST00000315170	NM_013270.4	231	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS2745.1	693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGTCCGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF6,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000418875	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000460241	Transcript	.	.	ENSG00000206549	17910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP50_HUMAN	PRSS50	HGNC	B3KUP4_HUMAN	.	UPI0000037465	SNV	PRSS50,synonymous_variant,p.%3D,ENST00000315170,;PRSS50,synonymous_variant,p.%3D,ENST00000460241,;TMIE,downstream_gene_variant,,ENST00000326431,;	2364	96	82	SUCCESS
KLHL18	23276	.	GRCh37	3	47371491	47371491	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1369023783	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	18	134	0	ENST00000232766.5:c.452T>C	p.Met151Thr	p.M151T	ENST00000232766	NM_025010.4	151	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS33749.1	452	RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGTGTG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF139,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000232766	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000232766	Transcript	.	.	ENSG00000114648	29120	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.683)	.	tolerated(0.42)	.	KLH18_HUMAN	KLHL18	HGNC	Q6PJF0_HUMAN,C9J4G4_HUMAN,B4DHW4_HUMAN	.	UPI00004703A5	SNV	KLHL18,missense_variant,p.Met151Thr,ENST00000232766,;KLHL18,missense_variant,p.Met39Thr,ENST00000455924,;KLHL18,3_prime_UTR_variant,,ENST00000442272,;KLHL18,non_coding_transcript_exon_variant,,ENST00000461084,;	472	134	108	SUCCESS
AMIGO3	386724	.	GRCh37	3	49756547	49756547	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	39	0	ENST00000320431.7:c.352T>C	p.Ser118Pro	p.S118P	ENST00000320431	NM_198722.2	118	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS33759.1	352	RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGATGATA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF62,PROSITE_profiles:PS51450	.	.	ENSP00000439268	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000535833	Transcript	.	.	ENSG00000176020	24075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	AMGO3_HUMAN	AMIGO3	HGNC	.	.	UPI00000622D6	SNV	AMIGO3,missense_variant,p.Ser118Pro,ENST00000320431,;AMIGO3,missense_variant,p.Ser118Pro,ENST00000535833,;GMPPB,3_prime_UTR_variant,,ENST00000480687,;RNF123,intron_variant,,ENST00000327697,;RNF123,intron_variant,,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,;GMPPB,downstream_gene_variant,,ENST00000308388,;RNF123,intron_variant,,ENST00000497099,;RNF123,intron_variant,,ENST00000487805,;RNF123,intron_variant,,ENST00000457726,;RNF123,intron_variant,,ENST00000486102,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000444689,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;	3803	40	37	SUCCESS
MST1R	4486	.	GRCh37	3	49936589	49936589	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	12	155	0	ENST00000296474.3:c.1338A>G	p.Val446=	p.V446=	ENST00000296474	NM_002447.2	446	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2807.1	1338	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTACTGG	NONE	.	.	PROSITE_profiles:PS51004,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,PIRSF_domain:PIRSF000617,Superfamily_domains:SSF101912	.	.	ENSP00000296474	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,synonymous_variant,p.%3D,ENST00000344206,;MST1R,synonymous_variant,p.%3D,ENST00000296474,;MST1R,upstream_gene_variant,,ENST00000440292,;MST1R,upstream_gene_variant,,ENST00000434765,;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,synonymous_variant,p.%3D,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,intron_variant,,ENST00000493535,;MST1R,upstream_gene_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000490053,;	1366	155	95	SUCCESS
ATXN7	6314	.	GRCh37	3	63975996	63975996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	16	152	0	ENST00000295900.6:c.1506G>T	p.Glu502Asp	p.E502D	ENST00000295900	NM_000333.3	502	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54603.1	1506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGTCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15117:SF2,hmmpanther:PTHR15117	.	.	ENSP00000381590	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000398590	Transcript	.	.	ENSG00000163635	10560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	tolerated(0.25)	.	ATX7_HUMAN	ATXN7	HGNC	Q9UPD8_HUMAN,Q8TEZ8_HUMAN,H0YAT6_HUMAN	.	UPI00001B07C4	SNV	ATXN7,missense_variant,p.Glu502Asp,ENST00000398590,;ATXN7,missense_variant,p.Glu502Asp,ENST00000295900,;ATXN7,missense_variant,p.Glu357Asp,ENST00000484332,;ATXN7,missense_variant,p.Glu502Asp,ENST00000487717,;ATXN7,missense_variant,p.Glu502Asp,ENST00000538065,;ATXN7,non_coding_transcript_exon_variant,,ENST00000484668,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;ATXN7,upstream_gene_variant,,ENST00000477516,;ATXN7,downstream_gene_variant,,ENST00000466529,;ATXN7,downstream_gene_variant,,ENST00000472569,;	2059	153	101	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64084858	64084858	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	199	0	ENST00000295902.6:c.2404C>A	p.Arg802=	p.R802=	ENST00000295902	NM_198859.3	802	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2902.1	2404	RADIA|MUTECT|MUSE|VARSCANS	.	GTATCGCAGGC	BUFFER|p.V804I|c.2410G>A|3	.	.	hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218	.	.	ENSP00000295902	.	8/8	.	.	.	.	.	.	.	.	COSM1131362	8/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,synonymous_variant,p.%3D,ENST00000295902,;PRICKLE2,synonymous_variant,p.%3D,ENST00000564377,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000476308,;	2990	199	109	SUCCESS
CPNE9	151835	.	GRCh37	3	9754230	9754230	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs571764241	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	76	1	ENST00000383832.3:c.383T>C	p.Val128Ala	p.V128A	ENST00000383832	NM_153635.2	128	gTa/gCa	0	.	A:0	.	A:0	.	C	V/A	protein_coding	YES	CCDS2574.2	383	RADIA|MUTECT|MUSE	.	GGGTGTACCAG	NONE	by1000G	.	hmmpanther:PTHR10857:SF10,hmmpanther:PTHR10857,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	A:0	.	ENSP00000373343	A:0	8/21	.	.	.	.	.	.	.	.	rs571764241	8/21	PASS	ENST00000383832	Transcript	.	A:0.0002	ENSG00000144550	24336	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.075)	A:0.001	tolerated(0.75)	.	CPNE9_HUMAN	CPNE9	HGNC	.	.	UPI0000412048	SNV	CPNE9,missense_variant,p.Val128Ala,ENST00000383832,;CPNE9,missense_variant,p.Val128Ala,ENST00000383831,;CPNE9,upstream_gene_variant,,ENST00000273027,;	573	77	31	SUCCESS
FAT4	79633	.	GRCh37	4	126371628	126371628	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	191	0	ENST00000394329.3:c.9457G>C	p.Asp3153His	p.D3153H	ENST00000394329	NM_024582.4	3153	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS3732.3	9457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTGATTAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Asp3153His,ENST00000394329,;FAT4,missense_variant,p.Asp1451His,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	9470	191	65	SUCCESS
CC2D2A	57545	.	GRCh37	4	15601277	15601277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	18	330	1	ENST00000424120.1:c.4622A>G	p.Asp1541Gly	p.D1541G	ENST00000424120		1541	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47026.1	4622	MUTECT|MUSE	.	AGAAGATGTAG	NONE	.	.	hmmpanther:PTHR20837:SF4,hmmpanther:PTHR20837	.	.	ENSP00000403465	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000424120	Transcript	1	.	ENSG00000048342	29253	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.3)	.	C2D2A_HUMAN	CC2D2A	HGNC	D6R9V3_HUMAN	.	UPI000023731A	SNV	CC2D2A,missense_variant,p.Asp1541Gly,ENST00000503292,;CC2D2A,missense_variant,p.Asp1433Gly,ENST00000389652,;CC2D2A,missense_variant,p.Asp1541Gly,ENST00000413206,;CC2D2A,missense_variant,p.Asp1541Gly,ENST00000424120,;FBXL5,downstream_gene_variant,,ENST00000341285,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000514039,;CC2D2A,3_prime_UTR_variant,,ENST00000506643,;CC2D2A,downstream_gene_variant,,ENST00000513035,;	4876	331	242	SUCCESS
MAP9	79884	.	GRCh37	4	156289738	156289738	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	345	0	ENST00000311277.4:c.708G>T	p.Glu236Asp	p.E236D	ENST00000311277	NM_001039580.1	236	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS35493.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACCTCAGG	NONE	.	.	hmmpanther:PTHR14739	.	.	ENSP00000310593	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000311277	Transcript	.	.	ENSG00000164114	26118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.01)	.	MAP9_HUMAN	MAP9	HGNC	C9JXH8_HUMAN,A2VCT0_HUMAN	.	UPI000020B618	SNV	MAP9,missense_variant,p.Glu236Asp,ENST00000311277,;MAP9,missense_variant,p.Glu163Asp,ENST00000379248,;MAP9,missense_variant,p.Glu236Asp,ENST00000515654,;MAP9,missense_variant,p.Glu235Asp,ENST00000433024,;AC097467.2,non_coding_transcript_exon_variant,,ENST00000597831,;AC097467.2,intron_variant,,ENST00000596165,;AC097467.2,downstream_gene_variant,,ENST00000600928,;AC097467.2,downstream_gene_variant,,ENST00000598890,;MAP9,missense_variant,p.Glu236Asp,ENST00000424373,;MAP9,downstream_gene_variant,,ENST00000481250,;	972	345	83	SUCCESS
CBR4	84869	.	GRCh37	4	169923357	169923357	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	125	0	ENST00000306193.3:c.401-1G>C		p.X134_splice	ENST00000306193	NM_032783.4	134		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3812.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GCTTCCTAGGA	NONE	.	.	.	.	.	ENSP00000303525	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306193	Transcript	.	.	ENSG00000145439	25891	.	.	HIGH	3/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBR4_HUMAN	CBR4	HGNC	.	.	UPI000006EEEF	SNV	CBR4,splice_acceptor_variant,,ENST00000306193,;CBR4,splice_acceptor_variant,,ENST00000504561,;CBR4,splice_acceptor_variant,,ENST00000504480,;RNY4P17,upstream_gene_variant,,ENST00000364948,;CBR4,splice_acceptor_variant,,ENST00000509108,;CBR4,splice_acceptor_variant,,ENST00000510042,;CBR4,downstream_gene_variant,,ENST00000506808,;	.	125	38	SUCCESS
KCNIP4	80333	.	GRCh37	4	21950328	21950328	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	42	0	ENST00000382152.2:c.-74C>T		p.*25*	ENST00000382152	NM_025221.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43216.1	.	MUTECT|MUSE|VARSCANS	.	TGCACGGGAGC	NONE	.	.	.	.	.	ENSP00000371587	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000382152	Transcript	.	.	ENSG00000185774	30083	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCIP4_HUMAN	KCNIP4	HGNC	.	.	UPI000004A274	SNV	KCNIP4,5_prime_UTR_variant,,ENST00000382152,;KCNIP4,5_prime_UTR_variant,,ENST00000447367,;RP11-17E2.2,upstream_gene_variant,,ENST00000510705,;KCNIP4,upstream_gene_variant,,ENST00000515786,;	95	42	37	SUCCESS
PPARGC1A	10891	.	GRCh37	4	23815325	23815325	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	105	1	ENST00000264867.2:c.1781G>T	p.Arg594Ile	p.R594I	ENST00000264867	NM_013261.3	594	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS3429.1	1781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATCTACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528	.	.	ENSP00000264867	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000264867	Transcript	1	.	ENSG00000109819	9237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	PRGC1_HUMAN	PPARGC1A	HGNC	G8DM16_HUMAN	.	UPI000004D072	SNV	PPARGC1A,missense_variant,p.Arg594Ile,ENST00000264867,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,downstream_gene_variant,,ENST00000509642,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;PPARGC1A,downstream_gene_variant,,ENST00000513205,;	1901	106	49	SUCCESS
PCDH7	5099	.	GRCh37	4	31144428	31144428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	31	0	ENST00000543491.1:c.3725C>T	p.Pro1242Leu	p.P1242L	ENST00000543491		1242	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54753.1	3725	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGCCATCTC	NONE	.	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027	.	.	ENSP00000441802	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.518)	.	deleterious_low_confidence(0.01)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Pro924Leu,ENST00000511884,;PCDH7,missense_variant,p.Pro1242Leu,ENST00000543491,;PCDH7,downstream_gene_variant,,ENST00000509759,;	3725	31	19	SUCCESS
BEND4	389206	.	GRCh37	4	42145706	42145706	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765527199	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	9	275	0	ENST00000502486.1:c.793C>A	p.Pro265Thr	p.P265T	ENST00000502486	NM_207406.3	265	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47048.1	793	MUTECT|MUSE	.	GTTTGGAGTTG	NONE	.	.	.	.	.	ENSP00000421169	.	3/6	.	.	.	.	.	.	.	.	rs765527199	3/6	PASS	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	tolerated_low_confidence(0.24)	.	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,missense_variant,p.Pro261Thr,ENST00000504360,;BEND4,missense_variant,p.Pro265Thr,ENST00000502486,;	1373	275	134	SUCCESS
HERC3	8916	.	GRCh37	4	89591339	89591339	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	248	1	ENST00000264345.3:c.1847A>T	p.Glu616Val	p.E616V	ENST00000264345		616	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34028.1	1847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGAGATTT	NONE	.	.	hmmpanther:PTHR11254:SF285,hmmpanther:PTHR11254	.	.	ENSP00000385684	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000402738	Transcript	.	.	ENSG00000138641	4876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0)	.	HERC3_HUMAN	HERC3	HGNC	Q4W5H5_HUMAN,F5GWU0_HUMAN,D6RAT5_HUMAN,C9JKA7_HUMAN,C9JFL2_HUMAN,C9J8E7_HUMAN,C9J6Z1_HUMAN,B4DK41_HUMAN	.	UPI000012C614	SNV	HERC3,missense_variant,p.Glu616Val,ENST00000402738,;HERC3,missense_variant,p.Glu60Val,ENST00000543130,;HERC3,missense_variant,p.Glu17Val,ENST00000512194,;HERC3,missense_variant,p.Glu616Val,ENST00000264345,;HERC3,downstream_gene_variant,,ENST00000504994,;HERC3,non_coding_transcript_exon_variant,,ENST00000470815,;	2086	249	82	SUCCESS
GRAMD3	0	.	GRCh37	5	125759319	125759319	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	54	114	0	ENST00000513040.1:c.129-41799T>C		p.*43*	ENST00000513040	NM_001146319.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54891.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATGTGGA	NONE	.	.	.	.	.	ENSP00000426120	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000513040	Transcript	.	.	ENSG00000155324	24911	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAM3_HUMAN	GRAMD3	HGNC	Q9BYJ8_HUMAN,B7Z4W8_HUMAN	.	UPI0001914E8F	SNV	GRAMD3,start_lost,p.Met1?,ENST00000542322,;GRAMD3,synonymous_variant,p.%3D,ENST00000543198,;GRAMD3,synonymous_variant,p.%3D,ENST00000515200,;GRAMD3,synonymous_variant,p.%3D,ENST00000285689,;GRAMD3,5_prime_UTR_variant,,ENST00000544396,;GRAMD3,intron_variant,,ENST00000513040,;GRAMD3,intron_variant,,ENST00000506445,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000505720,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000513913,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000514932,;GRAMD3,synonymous_variant,p.%3D,ENST00000514099,;GRAMD3,synonymous_variant,p.%3D,ENST00000513978,;	.	114	101	SUCCESS
DDX46	9879	.	GRCh37	5	134143603	134143603	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	183	1	ENST00000354283.4:c.2120C>T	p.Ala707Val	p.A707V	ENST00000354283		707	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34240.1	2120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCAGGGC	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540	.	.	ENSP00000346236	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(1)	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,missense_variant,p.Ala707Val,ENST00000354283,;DDX46,missense_variant,p.Ala707Val,ENST00000452510,;DDX46,3_prime_UTR_variant,,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000503946,;CTB-2L9.1,upstream_gene_variant,,ENST00000473936,;	2255	184	79	SUCCESS
ARSI	340075	.	GRCh37	5	149677216	149677216	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	103	0	ENST00000328668.7:c.1271G>A	p.Trp424Ter	p.W424*	ENST00000328668	NM_001012301.2	424	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS34275.1	1271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCACTCA	NONE	.	.	hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Gene3D:3.30.1120.10,Superfamily_domains:SSF53649	.	.	ENSP00000333395	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328668	Transcript	1	.	ENSG00000183876	32521	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARSI_HUMAN	ARSI	HGNC	D6RDH0_HUMAN	.	UPI000003FD83	SNV	ARSI,stop_gained,p.Trp281Ter,ENST00000515301,;ARSI,stop_gained,p.Trp424Ter,ENST00000328668,;ARSI,downstream_gene_variant,,ENST00000509146,;	1851	103	55	SUCCESS
EMB	133418	.	GRCh37	5	49724007	49724007	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866302109	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	135	0	ENST00000303221.5:c.167C>T	p.Ser56Phe	p.S56F	ENST00000303221	NM_198449.2	56	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS3953.1	167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGAAAAG	NONE	.	.	hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4	.	.	ENSP00000302289	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000303221	Transcript	.	.	ENSG00000170571	30465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.08)	.	EMB_HUMAN	EMB	HGNC	B7Z902_HUMAN	.	UPI0000160A6D	SNV	EMB,missense_variant,p.Ser6Phe,ENST00000514111,;EMB,missense_variant,p.Ser56Phe,ENST00000303221,;EMB,missense_variant,p.Ser56Phe,ENST00000508934,;EMB,non_coding_transcript_exon_variant,,ENST00000506190,;	383	135	71	SUCCESS
MOCS2	4338	.	GRCh37	5	52405551	52405551	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1021202508	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	66	0	ENST00000396954.3:c.-640G>A		p.*214*	ENST00000396954	NM_004531.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3958.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGGCAC	NONE	.	.	.	.	.	ENSP00000380157	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000396954	Transcript	1	.	ENSG00000164172	7193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MOC2B_HUMAN	MOCS2	HGNC	.	.	UPI000000DB29	SNV	MOCS2,synonymous_variant,p.%3D,ENST00000450852,;MOCS2,synonymous_variant,p.%3D,ENST00000510818,;MOCS2,synonymous_variant,p.%3D,ENST00000361377,;MOCS2,synonymous_variant,p.%3D,ENST00000584946,;MOCS2,synonymous_variant,p.%3D,ENST00000508922,;MOCS2,synonymous_variant,p.%3D,ENST00000582677,;MOCS2,5_prime_UTR_variant,,ENST00000396954,;MOCS2,intron_variant,,ENST00000527216,;CTD-2366F13.1,upstream_gene_variant,,ENST00000499459,;CTD-2366F13.1,upstream_gene_variant,,ENST00000512301,;CTD-2366F13.1,upstream_gene_variant,,ENST00000502171,;MOCS2,non_coding_transcript_exon_variant,,ENST00000514553,;MOCS2,upstream_gene_variant,,ENST00000502402,;	39	66	42	SUCCESS
FAM151B	167555	.	GRCh37	5	79817821	79817821	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	78	0	ENST00000282226.4:c.536-1G>T		p.X179_splice	ENST00000282226	NM_205548.2	179		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4051.1	.	RADIA|VARSCANS	.	TTTAAGGGTAC	NONE	.	.	.	.	.	ENSP00000282226	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282226	Transcript	.	.	ENSG00000152380	33716	.	.	HIGH	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F151B_HUMAN	FAM151B	HGNC	.	.	UPI000022C849	SNV	FAM151B,splice_acceptor_variant,,ENST00000282226,;FAM151B,splice_acceptor_variant,,ENST00000511718,;FAM151B,splice_acceptor_variant,,ENST00000509292,;	.	78	35	SUCCESS
ANKRD32	0	.	GRCh37	5	94025298	94025298	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs367590507	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	186	0	ENST00000265140.5:c.2406G>T	p.Lys802Asn	p.K802N	ENST00000265140	NM_032290.3	802	aaG/aaT	0	C:0.0002	.	.	.	.	T	K/N	protein_coding	YES	CCDS4071.2	2406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGACTAA	NONE	.	.	Superfamily_domains:SSF48403,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22	.	C:0	ENSP00000265140	.	18/21	.	.	.	.	.	.	.	.	rs367590507	18/21	PASS	ENST00000265140	Transcript	.	.	ENSG00000133302	25408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	ANR32_HUMAN	ANKRD32	HGNC	I6L9F1_HUMAN,D6RED9_HUMAN	.	UPI000066D9F9	SNV	ANKRD32,missense_variant,p.Lys802Asn,ENST00000265140,;ANKRD32,upstream_gene_variant,,ENST00000493934,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000450932,;ANKRD32,upstream_gene_variant,,ENST00000475916,;	2825	186	73	SUCCESS
VNN2	8875	.	GRCh37	6	133078572	133078572	+	synonymous_variant	Silent	SNP	C	C	T	rs756467958	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	72	0	ENST00000326499.6:c.327G>A	p.Pro109=	p.P109=	ENST00000326499	NM_004665.2	109	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5161.1	327	MUTECT|MUSE	.	TGACACGGAAT	NONE	byFrequency	.	PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF5,Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF011861,Superfamily_domains:SSF56317	.	.	ENSP00000322276	.	2/7	.	.	.	.	.	.	.	.	rs756467958	2/7	PASS	ENST00000326499	Transcript	.	.	ENSG00000112303	12706	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VNN2_HUMAN	VNN2	HGNC	E9PRD9_HUMAN,E9PL76_HUMAN,E9PK31_HUMAN	.	UPI000014194E	SNV	VNN2,synonymous_variant,p.%3D,ENST00000524919,;VNN2,synonymous_variant,p.%3D,ENST00000530536,;VNN2,synonymous_variant,p.%3D,ENST00000525270,;VNN2,synonymous_variant,p.%3D,ENST00000525289,;VNN2,synonymous_variant,p.%3D,ENST00000326499,;VNN2,downstream_gene_variant,,ENST00000532012,;RP1-55C23.7,downstream_gene_variant,,ENST00000430895,;VNN2,non_coding_transcript_exon_variant,,ENST00000526192,;VNN2,non_coding_transcript_exon_variant,,ENST00000526157,;VNN2,synonymous_variant,p.%3D,ENST00000532053,;VNN2,synonymous_variant,p.%3D,ENST00000525674,;VNN2,synonymous_variant,p.%3D,ENST00000418593,;VNN2,synonymous_variant,p.%3D,ENST00000528801,;VNN2,synonymous_variant,p.%3D,ENST00000531279,;VNN2,synonymous_variant,p.%3D,ENST00000422400,;VNN2,synonymous_variant,p.%3D,ENST00000533835,;VNN2,synonymous_variant,p.%3D,ENST00000392389,;	452	72	30	SUCCESS
MAP3K5	4217	.	GRCh37	6	136913604	136913604	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	15	178	0	ENST00000359015.4:c.3027T>C	p.Asp1009=	p.D1009=	ENST00000359015	NM_005923.3	1009	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS5179.1	3027	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACATCTCT	NONE	.	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332	.	.	ENSP00000351908	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000359015	Transcript	.	.	ENSG00000197442	6857	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	M3K5_HUMAN	MAP3K5	HGNC	A6NIA0_HUMAN	.	UPI000012EAD5	SNV	MAP3K5,synonymous_variant,p.%3D,ENST00000355845,;MAP3K5,synonymous_variant,p.%3D,ENST00000359015,;	3388	178	87	SUCCESS
HDGFL1	154150	.	GRCh37	6	22570186	22570186	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	71	0	ENST00000510882.2:c.382G>A	p.Glu128Lys	p.E128K	ENST00000510882		128	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34347.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGACGAATTG	NONE	.	.	hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF19	.	.	ENSP00000442129	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000510882	Transcript	.	.	ENSG00000112273	21095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.13)	.	HDGL1_HUMAN	HDGFL1	HGNC	.	.	UPI0000039B1A	SNV	HDGFL1,missense_variant,p.Glu128Lys,ENST00000510882,;HDGFL1,missense_variant,p.Glu128Lys,ENST00000230012,;	392	71	78	SUCCESS
HIST1H2BD	0	.	GRCh37	6	26158595	26158595	+	synonymous_variant	Silent	SNP	C	C	T	rs769305558	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	24	209	0	ENST00000289316.2:c.198C>T	p.Phe66=	p.F66=	ENST00000289316	NM_138720.2	66	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS4587.1	198	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCGTCAA	NONE	.	.	Prints_domain:PR00621,Superfamily_domains:SSF47113,SMART_domains:SM00427,Pfam_domain:PF00125,Gene3D:1.10.20.10,hmmpanther:PTHR23428	.	.	ENSP00000289316	.	1/2	.	.	.	.	.	.	.	.	rs769305558	1/2	PASS	ENST00000289316	Transcript	.	.	ENSG00000158373	4747	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H2B1D_HUMAN	HIST1H2BD	HGNC	.	.	UPI0000001BD3	SNV	HIST1H2BD,synonymous_variant,p.%3D,ENST00000289316,;HIST1H2BD,synonymous_variant,p.%3D,ENST00000377777,;HIST1H1E,downstream_gene_variant,,ENST00000304218,;	222	209	176	SUCCESS
GABBR1	2550	.	GRCh37	6	29574930	29574930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	15	156	0	ENST00000377034.4:c.2058G>T	p.Trp686Cys	p.W686C	ENST00000377034	NM_001470.2	686	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS4663.1	2058	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACCAAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF00003,Prints_domain:PR01176	.	.	ENSP00000366233	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Trp624Cys,ENST00000377016,;GABBR1,missense_variant,p.Trp569Cys,ENST00000355973,;GABBR1,missense_variant,p.Trp569Cys,ENST00000377012,;GABBR1,missense_variant,p.Trp686Cys,ENST00000377034,;GABBR1,3_prime_UTR_variant,,ENST00000376977,;GABBR1,3_prime_UTR_variant,,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,downstream_gene_variant,,ENST00000489839,;GABBR1,upstream_gene_variant,,ENST00000488334,;GABBR1,upstream_gene_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000473774,;GABBR1,upstream_gene_variant,,ENST00000478931,;	2394	156	155	SUCCESS
HSPA1L	3305	.	GRCh37	6	31778842	31778842	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1385211232	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	55	124	1	ENST00000375654.4:c.908G>A	p.Arg303Gln	p.R303Q	ENST00000375654	NM_005527.3	303	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34413.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCGAGCT	NONE	.	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.90.640.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious_low_confidence(0)	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,missense_variant,p.Arg303Gln,ENST00000417199,;HSPA1L,missense_variant,p.Arg303Gln,ENST00000375654,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000375651,;LSM2,upstream_gene_variant,,ENST00000375661,;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	1098	125	103	SUCCESS
HLA-DPB1	3115	.	GRCh37	6	33053656	33053656	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759486323	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	102	0	ENST00000418931.2:c.747G>T	p.Arg249Ser	p.R249S	ENST00000418931	NM_002121.5	249	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4765.1	747	MUTECT|MUSE	.	AGGAGGAGCAA	NONE	.	.	hmmpanther:PTHR19944:SF46,hmmpanther:PTHR19944	.	.	ENSP00000408146	.	4/6	.	.	.	.	.	.	.	.	rs759486323	4/6	PASS	ENST00000418931	Transcript	.	.	ENSG00000223865	4940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.394)	.	deleterious(0)	.	DPB1_HUMAN	HLA-DPB1	HGNC	T2KSN6_HUMAN,S4T765_HUMAN,S4T728_HUMAN,S4T726_HUMAN,S4T6V7_HUMAN,S4T6S0_HUMAN,N0A2U5_HUMAN,Q7YQ09_HUMAN,Q67AT7_HUMAN,Q67AT3_HUMAN,Q67AT0_HUMAN,Q67AS6_HUMAN,Q67AS4_HUMAN,Q67AS1_HUMAN,Q67AQ5_HUMAN,Q67AQ4_HUMAN,Q67AQ3_HUMAN,Q67AQ2_HUMAN,Q67AQ1_HUMAN,Q67AQ0_HUMAN,Q67AP9_HUMAN,Q67AP8_HUMAN,Q67AP7_HUMAN,Q67AP5_HUMAN,Q67AP4_HUMAN,Q67AP3_HUMAN,Q67AP1_HUMAN,Q49U72_HUMAN,Q49U70_HUMAN,Q49U66_HUMAN,Q49U64_HUMAN,Q49U62_HUMAN,Q49U58_HUMAN,Q49U56_HUMAN,Q49U54_HUMAN,Q49U52_HUMAN,Q49U50_HUMAN,Q49U48_HUMAN,Q49U46_HUMAN,Q49U44_HUMAN,Q49U42_HUMAN,Q49U38_HUMAN,Q49U34_HUMAN,Q49U32_HUMAN,Q49U30_HUMAN,Q49U28_HUMAN,O19686_HUMAN,O19628_HUMAN,L0BXX2_HUMAN,L0BXH6_HUMAN,I4EC15_HUMAN,H2A3H7_HUMAN,E9NVG1_HUMAN,A1YAC1_HUMAN	.	UPI000004494C	SNV	HLA-DPB1,missense_variant,p.Arg249Ser,ENST00000418931,;HLA-DPB1,missense_variant,p.Arg216Ser,ENST00000416804,;HLA-DPB1,missense_variant,p.Arg226Ser,ENST00000428835,;HLA-DPB1,downstream_gene_variant,,ENST00000535465,;HLA-DPB1,downstream_gene_variant,,ENST00000488575,;HLA-DPB1,downstream_gene_variant,,ENST00000471184,;HLA-DPB1,downstream_gene_variant,,ENST00000478189,;HLA-DPB1,downstream_gene_variant,,ENST00000498038,;HLA-DPB1,downstream_gene_variant,,ENST00000469120,;	863	102	104	SUCCESS
PPIL1	51645	.	GRCh37	6	36823793	36823793	+	synonymous_variant	Silent	SNP	T	T	C	rs756837992	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	31	86	0	ENST00000373699.5:c.297A>G	p.Ala99=	p.A99=	ENST00000373699	NM_016059.4	99	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS4826.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATTGCGAG	NONE	byFrequency	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,Pfam_domain:PF00160,Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,Superfamily_domains:SSF50891,Prints_domain:PR00153	.	.	ENSP00000362803	.	4/4	.	.	.	.	.	.	.	.	rs756837992	4/4	PASS	ENST00000373699	Transcript	.	.	ENSG00000137168	9260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPIL1_HUMAN	PPIL1	HGNC	.	.	UPI000004C600	SNV	PPIL1,synonymous_variant,p.%3D,ENST00000373699,;PPIL1,non_coding_transcript_exon_variant,,ENST00000483552,;	549	86	55	SUCCESS
MOCS1	4337	.	GRCh37	6	39895091	39895091	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	95	0	ENST00000340692.5:c.227T>C	p.Leu76Pro	p.L76P	ENST00000340692		76	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4846.1	227	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGAGGGAG	NONE	.	.	HAMAP:MF_01225_B,hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960,PROSITE_patterns:PS01305,TIGRFAM_domain:TIGR02666,Pfam_domain:PF04055,Gene3D:3.20.20.70,SMART_domains:SM00729,Superfamily_domains:SSF102114	.	.	ENSP00000362282	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000373186	Transcript	.	.	ENSG00000124615	7190	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	MOCS1_HUMAN	MOCS1	HGNC	Q9NP27_HUMAN	.	UPI000006FA21	SNV	MOCS1,missense_variant,p.Leu76Pro,ENST00000425303,;MOCS1,missense_variant,p.Leu76Pro,ENST00000373188,;MOCS1,missense_variant,p.Leu47Pro,ENST00000373175,;MOCS1,missense_variant,p.Leu76Pro,ENST00000340692,;MOCS1,missense_variant,p.Leu76Pro,ENST00000308559,;MOCS1,missense_variant,p.Leu76Pro,ENST00000373186,;MOCS1,missense_variant,p.Leu47Pro,ENST00000432280,;MOCS1,intron_variant,,ENST00000373195,;MOCS1,missense_variant,p.Leu76Pro,ENST00000487924,;MOCS1,5_prime_UTR_variant,,ENST00000373181,;MOCS1,intron_variant,,ENST00000473742,;	365	95	82	SUCCESS
OPN5	221391	.	GRCh37	6	47763244	47763244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	17	264	0	ENST00000371211.2:c.701C>A	p.Ala234Asp	p.A234D	ENST00000371211	NM_181744.3	234	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS4923.1	701	MUTECT|MUSE|VARSCANS	.	AGTAGCTCATT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF0,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000360255	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000371211	Transcript	.	.	ENSG00000124818	19992	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.719)	.	deleterious(0.01)	.	OPN5_HUMAN	OPN5	HGNC	.	.	UPI0000223E5B	SNV	OPN5,missense_variant,p.Ala234Asp,ENST00000489301,;OPN5,missense_variant,p.Ala234Asp,ENST00000393699,;OPN5,missense_variant,p.Ala234Asp,ENST00000371211,;OPN5,non_coding_transcript_exon_variant,,ENST00000510695,;OPN5,non_coding_transcript_exon_variant,,ENST00000244799,;	729	265	188	SUCCESS
SPAM1	6677	.	GRCh37	7	123594436	123594436	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	9	173	0	ENST00000223028.7:c.812C>T	p.Pro271Leu	p.P271L	ENST00000223028		271	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5790.1	812	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCTGTAG	BUFFER|p.Q268Q|c.804G>A|3,BUFFER|p.Q268Q|c.804G>A|3	.	.	hmmpanther:PTHR11769:SF20,hmmpanther:PTHR11769,Pfam_domain:PF01630,Gene3D:3.20.20.70,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445	.	.	ENSP00000345849	.	3/7	.	.	.	.	.	.	.	.	COSM3632758,COSM3632759	3/7	PASS	ENST00000340011	Transcript	.	.	ENSG00000106304	11217	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.002)	.	tolerated(0.15)	1,1	HYALP_HUMAN	SPAM1	HGNC	C9J2X5_HUMAN	.	UPI0000072166	SNV	SPAM1,missense_variant,p.Pro271Leu,ENST00000223028,;SPAM1,missense_variant,p.Pro271Leu,ENST00000460182,;SPAM1,missense_variant,p.Pro271Leu,ENST00000439500,;SPAM1,missense_variant,p.Pro271Leu,ENST00000340011,;SPAM1,missense_variant,p.Pro271Leu,ENST00000402183,;SPAM1,downstream_gene_variant,,ENST00000413927,;	1169	173	91	SUCCESS
SLC13A4	26266	.	GRCh37	7	135390908	135390908	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	11	67	0	ENST00000354042.4:c.506G>A	p.Gly169Asp	p.G169D	ENST00000354042	NM_012450.2	169	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5840.1	506	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGCCCGCC	NONE	.	.	Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	.	.	ENSP00000297282	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.297)	.	tolerated(0.24)	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,missense_variant,p.Gly169Asp,ENST00000354042,;SLC13A4,downstream_gene_variant,,ENST00000378428,;RP11-644N4.1,downstream_gene_variant,,ENST00000609370,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;SLC13A4,upstream_gene_variant,,ENST00000480376,;SLC13A4,downstream_gene_variant,,ENST00000478310,;	1196	67	90	SUCCESS
OR9A2	135924	.	GRCh37	7	142724155	142724155	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	47	292	0	ENST00000350513.2:c.65T>G	p.Leu22Arg	p.L22R	ENST00000350513	NM_001001658.1	22	cTa/cGa	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS34767.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTAGTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF126,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000316518	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000350513	Transcript	.	.	ENSG00000179468	15093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.02)	.	OR9A2_HUMAN	OR9A2	HGNC	A4D2H9_HUMAN	.	UPI0000041C18	SNV	OR9A2,missense_variant,p.Leu22Arg,ENST00000350513,;	128	292	138	SUCCESS
GALNTL5	168391	.	GRCh37	7	151664464	151664464	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	104	269	0	ENST00000392800.2:c.133G>A	p.Ala45Thr	p.A45T	ENST00000392800	NM_145292.3	45	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5929.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAGCTTGG	NONE	.	.	hmmpanther:PTHR11675:SF17,hmmpanther:PTHR11675	.	.	ENSP00000376548	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000392800	Transcript	.	.	ENSG00000106648	21725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.62)	.	GLTL5_HUMAN	GALNTL5	HGNC	.	.	UPI000013C82E	SNV	GALNTL5,missense_variant,p.Ala45Thr,ENST00000431418,;GALNTL5,missense_variant,p.Ala45Thr,ENST00000392800,;GALNTL5,upstream_gene_variant,,ENST00000468278,;GALNTL5,missense_variant,p.Ala45Thr,ENST00000448366,;GALNTL5,missense_variant,p.Ala45Thr,ENST00000414073,;GALNTL5,missense_variant,p.Ala45Thr,ENST00000416269,;GALNTL5,missense_variant,p.Ala45Thr,ENST00000416062,;GALNTL5,missense_variant,p.Ala45Thr,ENST00000426341,;	387	269	152	SUCCESS
INTS1	26173	.	GRCh37	7	1519278	1519278	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs562279230	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	30	0	ENST00000404767.3:c.4117C>G	p.Pro1373Ala	p.P1373A	ENST00000404767	NM_001080453.2	1373	Ccc/Gcc	0	.	C:0.0008	.	C:0	.	C	P/A	protein_coding	YES	CCDS47526.1	4117	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGACTGG	NONE	by1000G	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	C:0	.	ENSP00000385722	C:0	31/48	.	.	.	.	.	.	.	.	rs562279230	31/48	PASS	ENST00000404767	Transcript	.	C:0.0002	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	C:0	tolerated(0.98)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Pro1373Ala,ENST00000404767,;INTS1,missense_variant,p.Pro1572Ala,ENST00000389470,;INTS1,upstream_gene_variant,,ENST00000482994,;INTS1,downstream_gene_variant,,ENST00000468115,;	4203	30	26	SUCCESS
AQP1	358	.	GRCh37	7	30951862	30951862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	48	0	ENST00000311813.4:c.338C>T	p.Ser113Leu	p.S113L	ENST00000311813	NM_198098.2	113	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS5431.1	338	MUTECT|MUSE|VARSCANS	.	CCTCTCAGGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF33,hmmpanther:PTHR19139,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Pfam_domain:PF00230,Superfamily_domains:SSF81338	.	.	ENSP00000311165	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000311813	Transcript	.	.	ENSG00000240583	633	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.019)	.	tolerated(0.07)	.	AQP1_HUMAN	AQP1	HGNC	Q6JSD7_HUMAN,B4DNW4_HUMAN	.	UPI000005339A	SNV	AQP1,missense_variant,p.Ser113Leu,ENST00000311813,;AQP1,missense_variant,p.Ser290Leu,ENST00000509504,;AQP1,missense_variant,p.Ser173Leu,ENST00000434909,;AQP1,upstream_gene_variant,,ENST00000482461,;	393	48	67	SUCCESS
NPSR1	387129	.	GRCh37	7	34698055	34698055	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs267601495	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	181	0	ENST00000360581.1:c.31G>A	p.Asp11Asn	p.D11N	ENST00000360581	NM_207172.1	11	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS5443.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GCTTCGATTCC	NONE	.	.	hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2	.	.	ENSP00000352839	.	1/9	.	.	.	.	.	.	.	.	rs267601495,COSM36651,COSM1450499,COSM1450498	1/9	PASS	ENST00000359791	Transcript	.	.	ENSG00000187258	23631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	benign(0.002)	.	tolerated_low_confidence(0.82)	0,1,1,1	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,missense_variant,p.Asp11Asn,ENST00000465305,;NPSR1,missense_variant,p.Asp11Asn,ENST00000359791,;NPSR1,missense_variant,p.Asp11Asn,ENST00000531252,;NPSR1,missense_variant,p.Asp11Asn,ENST00000381539,;NPSR1,missense_variant,p.Asp11Asn,ENST00000381542,;NPSR1,missense_variant,p.Asp11Asn,ENST00000381553,;NPSR1,missense_variant,p.Asp11Asn,ENST00000360581,;AC005493.1,intron_variant,,ENST00000399077,;NPSR1-AS1,intron_variant,,ENST00000419766,;NPSR1-AS1,intron_variant,,ENST00000544556,;NPSR1-AS1,intron_variant,,ENST00000537560,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000439852,;NPSR1-AS1,intron_variant,,ENST00000358772,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1,missense_variant,p.Asp11Asn,ENST00000381544,;NPSR1,missense_variant,p.Asp11Asn,ENST00000396095,;	159	181	97	SUCCESS
AEBP1	165	.	GRCh37	7	44149823	44149823	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763567371	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	13	133	0	ENST00000223357.3:c.1278C>A	p.Asp426Glu	p.D426E	ENST00000223357	NM_001129.4	426	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS5476.1	1278	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACGACTA	NONE	byFrequency	.	PROSITE_profiles:PS50022,hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000223357	.	11/21	.	.	.	.	.	.	.	.	rs763567371	11/21	PASS	ENST00000223357	Transcript	.	.	ENSG00000106624	303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.639)	.	tolerated(0.11)	.	AEBP1_HUMAN	AEBP1	HGNC	B4DJB3_HUMAN	.	UPI00000746E2	SNV	AEBP1,missense_variant,p.Asp426Glu,ENST00000223357,;POLD2,downstream_gene_variant,,ENST00000406581,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000452185,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000450684,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000489883,;	1583	133	124	SUCCESS
FZD9	8326	.	GRCh37	7	72849249	72849250	+	inframe_insertion	In_Frame_Ins	INS	-	-	CAG	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	55	0	ENST00000344575.3:c.913_915dup	p.Gln305dup	p.Q305dup	ENST00000344575	NM_003508.2	305	-/CAG	0	.	.	.	.	.	CAG	-/Q	protein_coding	YES	CCDS5548.1	912-913	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGATCCAGGA	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Pfam_domain:PF01534	.	.	ENSP00000345785	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344575	Transcript	.	.	ENSG00000188763	4047	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FZD9_HUMAN	FZD9	HGNC	.	.	UPI000004EC98	insertion	FZD9,inframe_insertion,p.Gln305dup,ENST00000344575,;	1141-1142	55	78	SUCCESS
BAZ1B	9031	.	GRCh37	7	72903721	72903721	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	110	270	1	ENST00000339594.4:c.694A>G	p.Ile232Val	p.I232V	ENST00000339594	NM_032408.3	232	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5549.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGATCTAGG	NONE	.	.	hmmpanther:PTHR22880:SF60,hmmpanther:PTHR22880	.	.	ENSP00000342434	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000339594	Transcript	.	.	ENSG00000009954	961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	BAZ1B_HUMAN	BAZ1B	HGNC	.	.	UPI0000126731	SNV	BAZ1B,missense_variant,p.Ile232Val,ENST00000404251,;BAZ1B,missense_variant,p.Ile232Val,ENST00000339594,;	1033	271	206	SUCCESS
PCLO	27445	.	GRCh37	7	82583266	82583266	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	253	75	400	1	ENST00000333891.9:c.7003T>C	p.Leu2335=	p.L2335=	ENST00000333891	NM_033026.5	2335	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS47630.1	7003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATAAGCTAC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7341	401	329	SUCCESS
SEMA3D	223117	.	GRCh37	7	84697509	84697509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	125	0	ENST00000284136.6:c.587C>A	p.Thr196Lys	p.T196K	ENST00000284136	NM_152754.2	196	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS34676.1	587	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGTCATT	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	.	ENSP00000284136	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.688)	.	deleterious(0.02)	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,missense_variant,p.Thr196Lys,ENST00000284136,;SEMA3D,missense_variant,p.Thr196Lys,ENST00000444867,;	631	125	99	SUCCESS
ZC3H3	23144	.	GRCh37	8	144550407	144550407	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754043561	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	63	0	ENST00000262577.5:c.2147C>A	p.Pro716His	p.P716H	ENST00000262577	NM_015117.2	716	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS6402.1	2147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGGGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50103,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF13,SMART_domains:SM00356	.	.	ENSP00000262577	.	8/12	.	.	.	.	.	.	.	.	rs754043561,COSM1700740	8/12	PASS	ENST00000262577	Transcript	.	.	ENSG00000014164	28972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	ZC3H3_HUMAN	ZC3H3	HGNC	.	.	UPI0000160D96	SNV	ZC3H3,missense_variant,p.Pro716His,ENST00000262577,;	2179	63	55	SUCCESS
CPSF1	29894	.	GRCh37	8	145623090	145623090	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	32	0	ENST00000349769.3:c.2078C>G	p.Ser693Cys	p.S693C	ENST00000349769	NM_013291.2	693	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS34966.1	2078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGACTGC	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2	.	.	ENSP00000339353	.	21/38	.	.	.	.	.	.	.	.	.	21/38	PASS	ENST00000349769	Transcript	.	.	ENSG00000071894	2324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	tolerated(0.06)	.	CPSF1_HUMAN	CPSF1	HGNC	Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN	.	UPI00001282EE	SNV	CPSF1,missense_variant,p.Ser693Cys,ENST00000349769,;CPSF1,downstream_gene_variant,,ENST00000531042,;ADCK5,downstream_gene_variant,,ENST00000308860,;MIR1234,downstream_gene_variant,,ENST00000408875,;MIR939,upstream_gene_variant,,ENST00000401314,;CPSF1,upstream_gene_variant,,ENST00000531727,;CPSF1,upstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000533492,;ADCK5,downstream_gene_variant,,ENST00000529654,;CPSF1,upstream_gene_variant,,ENST00000531480,;CPSF1,upstream_gene_variant,,ENST00000527827,;CPSF1,upstream_gene_variant,,ENST00000532725,;CPSF1,upstream_gene_variant,,ENST00000526271,;CPSF1,upstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000532560,;CPSF1,downstream_gene_variant,,ENST00000527916,;CPSF1,downstream_gene_variant,,ENST00000531683,;	2173	32	41	SUCCESS
SLC7A2	6542	.	GRCh37	8	17421125	17421125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	237	61	460	0	ENST00000494857.1:c.1685C>A	p.Pro562Gln	p.P562Q	ENST00000494857	NM_001008539.3	562	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS55203.1	1805	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCATTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF242,hmmpanther:PTHR11785,Pfam_domain:PF13906,TIGRFAM_domain:TIGR00906	.	.	ENSP00000004531	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000004531	Transcript	.	.	ENSG00000003989	11060	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CTR2_HUMAN	SLC7A2	HGNC	.	.	UPI0001A336A4	SNV	SLC7A2,missense_variant,p.Pro562Gln,ENST00000522656,;SLC7A2,missense_variant,p.Pro562Gln,ENST00000494857,;SLC7A2,missense_variant,p.Pro601Gln,ENST00000470360,;SLC7A2,missense_variant,p.Pro601Gln,ENST00000398090,;SLC7A2,missense_variant,p.Pro602Gln,ENST00000004531,;	1853	460	299	SUCCESS
SLC18A1	6570	.	GRCh37	8	20004896	20004896	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	98	0	ENST00000276373.5:c.1337C>A	p.Ser446Tyr	p.S446Y	ENST00000276373	NM_003053.3	446	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6013.1	1337	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGATGGA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF71,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000387549	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000440926	Transcript	.	.	ENSG00000036565	10934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	VMAT1_HUMAN	SLC18A1	HGNC	.	.	UPI00001389CE	SNV	SLC18A1,missense_variant,p.Ser446Tyr,ENST00000276373,;SLC18A1,missense_variant,p.Ser414Tyr,ENST00000265808,;SLC18A1,missense_variant,p.Ser446Tyr,ENST00000440926,;SLC18A1,missense_variant,p.Ser414Tyr,ENST00000519026,;SLC18A1,intron_variant,,ENST00000381608,;SLC18A1,intron_variant,,ENST00000437980,;SLC18A1,3_prime_UTR_variant,,ENST00000517776,;SLC18A1,downstream_gene_variant,,ENST00000519171,;	1808	98	70	SUCCESS
NCOA2	10499	.	GRCh37	8	71039123	71039123	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	20	209	0	ENST00000452400.2:c.3841G>A	p.Gly1281Ser	p.G1281S	ENST00000452400	NM_006540.2	1281	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS47872.1	3841	RADIA|MUTECT|MUSE|VARSCANS	.	CATACCACTAG	NONE	.	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,Pfam_domain:PF07469,PIRSF_domain:PIRSF038181	.	.	ENSP00000399968	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	tolerated(0.74)	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,missense_variant,p.Gly369Ser,ENST00000267974,;NCOA2,missense_variant,p.Gly1281Ser,ENST00000452400,;NCOA2,missense_variant,p.Gly407Ser,ENST00000518363,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,non_coding_transcript_exon_variant,,ENST00000521239,;	4023	209	137	SUCCESS
EYA1	2138	.	GRCh37	8	72233982	72233982	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	232	38	370	0	ENST00000340726.3:c.405C>A	p.Gly135=	p.G135=	ENST00000340726	NM_000503.4	135	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34906.1	405	RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGCCGTA	NONE	.	.	hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	6/18	.	.	.	.	.	.	.	.	CD972191	6/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	.	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,synonymous_variant,p.%3D,ENST00000388741,;EYA1,synonymous_variant,p.%3D,ENST00000419131,;EYA1,synonymous_variant,p.%3D,ENST00000388742,;EYA1,synonymous_variant,p.%3D,ENST00000340726,;EYA1,synonymous_variant,p.%3D,ENST00000388740,;EYA1,synonymous_variant,p.%3D,ENST00000388743,;EYA1,synonymous_variant,p.%3D,ENST00000303824,;EYA1,missense_variant,p.Ala113Glu,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000422295,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	1045	370	270	SUCCESS
PTDSS1	9791	.	GRCh37	8	97345763	97345763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	140	0	ENST00000517309.1:c.1391C>T	p.Ser464Leu	p.S464L	ENST00000517309	NM_014754.1	464	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS6271.1	1391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCAAAAG	NONE	.	.	hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1,Low_complexity_(Seg):seg	.	.	ENSP00000430548	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000517309	Transcript	1	.	ENSG00000156471	9587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.1)	.	PTSS1_HUMAN	PTDSS1	HGNC	Q9BUQ5_HUMAN	.	UPI0000132810	SNV	PTDSS1,missense_variant,p.Ser464Leu,ENST00000517309,;PTDSS1,missense_variant,p.Ser318Leu,ENST00000455950,;PTDSS1,intron_variant,,ENST00000522072,;PTDSS1,3_prime_UTR_variant,,ENST00000337004,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000517982,;	1717	140	101	SUCCESS
IKBKAP	0	.	GRCh37	9	111658811	111658811	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	169	0	ENST00000374647.5:c.2701G>C	p.Asp901His	p.D901H	ENST00000374647	NM_003640.3	901	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6773.1	2701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCAAAGT	NONE	.	.	hmmpanther:PTHR12747,Pfam_domain:PF04762,PIRSF_domain:PIRSF017233	.	.	ENSP00000363779	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000374647	Transcript	.	.	ENSG00000070061	5959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ELP1_HUMAN	IKBKAP	HGNC	Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN	.	UPI000013D2D0	SNV	IKBKAP,missense_variant,p.Asp552His,ENST00000537196,;IKBKAP,missense_variant,p.Asp901His,ENST00000374647,;IKBKAP,upstream_gene_variant,,ENST00000495759,;	3009	169	87	SUCCESS
SH3GL2	6456	.	GRCh37	9	17795714	17795714	+	synonymous_variant	Silent	SNP	G	G	A	rs371297260	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	53	288	0	ENST00000380607.4:c.1032G>A	p.Val344=	p.V344=	ENST00000380607	NM_003026.2	344	gtG/gtA	0	A:0.0002	.	.	.	.	A	V	protein_coding	YES	CCDS6483.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTGGAAAT	NONE	byCluster	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452,Prints_domain:PR01887	.	A:0	ENSP00000369981	.	9/9	.	.	.	.	.	.	.	.	rs371297260	9/9	PASS	ENST00000380607	Transcript	.	.	ENSG00000107295	10831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3G2_HUMAN	SH3GL2	HGNC	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN	.	UPI0000135933	SNV	SH3GL2,synonymous_variant,p.%3D,ENST00000380607,;SH3GL2,synonymous_variant,p.%3D,ENST00000537391,;	1152	288	245	SUCCESS
KLHL9	55958	.	GRCh37	9	21334288	21334288	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	110	0	ENST00000359039.4:c.571C>T	p.Leu191=	p.L191=	ENST00000359039		191	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6503.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGAAACT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,synonymous_variant,p.%3D,ENST00000537938,;KLHL9,synonymous_variant,p.%3D,ENST00000359039,;	1092	110	37	SUCCESS
KIAA1161	0	.	GRCh37	9	34371283	34371283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	46	0	ENST00000297625.7:c.1557G>T	p.Met519Ile	p.M519I	ENST00000297625	NM_020702.3	519	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCATATC	NONE	.	.	hmmpanther:PTHR22762:SF70,hmmpanther:PTHR22762,Pfam_domain:PF01055,Superfamily_domains:SSF51445	.	.	ENSP00000297625	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297625	Transcript	.	.	ENSG00000164976	19918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.301)	.	deleterious(0.01)	.	K1161_HUMAN	KIAA1161	HGNC	.	.	UPI00002374BC	SNV	KIAA1161,missense_variant,p.Met519Ile,ENST00000297625,;KIAA1161,downstream_gene_variant,,ENST00000379142,;	1783	46	51	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39140553	39140553	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	419	100	709	0	ENST00000297668.6:c.1839C>A	p.Gly613=	p.G613=	ENST00000297668	NM_033655.3	613	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6616.1	1839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGCCACT	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:3.90.215.10,Superfamily_domains:SSF56496	.	.	ENSP00000297668	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,synonymous_variant,p.%3D,ENST00000358144,;CNTNAP3,synonymous_variant,p.%3D,ENST00000297668,;CNTNAP3,synonymous_variant,p.%3D,ENST00000377656,;CNTNAP3,synonymous_variant,p.%3D,ENST00000377659,;CNTNAP3,synonymous_variant,p.%3D,ENST00000323947,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000469061,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000448573,;CNTNAP3,synonymous_variant,p.%3D,ENST00000443583,;	1913	709	519	SUCCESS
FMR1NB	158521	.	GRCh37	X	147084806	147084806	+	synonymous_variant	Silent	SNP	A	A	C	rs782172100	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	11	359	0	ENST00000370467.3:c.363A>C	p.Ala121=	p.A121=	ENST00000370467	NM_152578.2	121	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS14683.1	363	MUTECT|MUSE	.	TCCGCATTGGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000359498	.	2/6	.	.	.	.	.	.	.	.	rs782172100	2/6	PASS	ENST00000370467	Transcript	.	.	ENSG00000176988	26372	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FMR1N_HUMAN	FMR1NB	HGNC	F2Z3J3_HUMAN	.	UPI0000062299	SNV	FMR1NB,synonymous_variant,p.%3D,ENST00000370467,;5S_rRNA,downstream_gene_variant,,ENST00000364415,;FMR1NB,upstream_gene_variant,,ENST00000489034,;	437	359	179	SUCCESS
CDKL5	6792	.	GRCh37	X	18622799	18622799	+	synonymous_variant	Silent	SNP	G	G	A	rs779156340	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	27	106	0	ENST00000379989.3:c.1755G>A	p.Leu585=	p.L585=	ENST00000379989	NM_001037343.1	585	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14186.1	1755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGTCTGC	NONE	byFrequency	.	hmmpanther:PTHR24056:SF111,hmmpanther:PTHR24056	.	.	ENSP00000369325	.	13/22	.	.	.	.	.	.	.	.	rs779156340	13/22	PASS	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	SNV	CDKL5,synonymous_variant,p.%3D,ENST00000379989,;CDKL5,synonymous_variant,p.%3D,ENST00000379996,;CDKL5,non_coding_transcript_exon_variant,,ENST00000463994,;	2040	106	40	SUCCESS
CYLC1	1538	.	GRCh37	X	83129262	83129262	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201228346	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	223	0	ENST00000329312.4:c.1546G>A	p.Asp516Asn	p.D516N	ENST00000329312	NM_021118.2	516	Gac/Aac	0	.	A:0.0008	.	A:0	.	A	D/N	protein_coding	YES	CCDS35341.1	1546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGACACA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	A:0	.	ENSP00000331556	A:0	4/5	.	.	.	.	.	.	.	.	rs201228346,COSM1715216,COSM1715215	4/5	PASS	ENST00000329312	Transcript	.	A:0.0003	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.1)	A:0	tolerated(0.2)	0,1,1	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Asp516Asn,ENST00000329312,;	1583	223	86	SUCCESS
MUC2	4583	.	GRCh37	11	1096485	1096485	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs761619089	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	72	0	ENST00000441003.2:c.6511del	p.Val2171CysfsTer17	p.V2171Cfs*17	ENST00000441003	NM_002457.2	2170	aaG/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	.	6510	INDELOCATOR*|VARSCANI*|PINDEL	.	CGACAAGGTGTC	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	34/49	.	.	.	.	.	.	.	.	rs761619089	34/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	deletion	MUC2,frameshift_variant,p.Val309CysfsTer17,ENST00000361558,;MUC2,frameshift_variant,p.Val2171CysfsTer17,ENST00000441003,;MUC2,downstream_gene_variant,,ENST00000333592,;MUC2,downstream_gene_variant,,ENST00000359061,;	6537	72	59	SUCCESS
SOX6	55553	.	GRCh37	11	15994640	15994640	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	54	144	0	ENST00000528429.1:c.2202A>T	p.Pro734=	p.P734=	ENST00000528429	NM_001145819.1	734	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7821.1	2142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATTGGAAT	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89	.	.	ENSP00000379644	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000396356	Transcript	.	.	ENSG00000110693	16421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX6_HUMAN	SOX6	HGNC	E9PQL4_HUMAN,E9PQ67_HUMAN,E9PN02_HUMAN	.	UPI00001F9DE4	SNV	SOX6,synonymous_variant,p.%3D,ENST00000527619,;SOX6,synonymous_variant,p.%3D,ENST00000528429,;SOX6,synonymous_variant,p.%3D,ENST00000352083,;SOX6,synonymous_variant,p.%3D,ENST00000528252,;SOX6,synonymous_variant,p.%3D,ENST00000396356,;SOX6,synonymous_variant,p.%3D,ENST00000316399,;	2220	144	115	SUCCESS
SYT8	90019	.	GRCh37	11	1856575	1856575	+	synonymous_variant	Silent	SNP	C	C	A	rs556491023	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	26	0	ENST00000381968.3:c.186C>A	p.Leu62=	p.L62=	ENST00000381968	NM_138567.3	62	ctC/ctA	0	.	T:0	.	T:0	.	A	L	protein_coding	YES	CCDS7726.2	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCGTCTC	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10024:SF36,hmmpanther:PTHR10024	T:0.001	.	ENSP00000371394	T:0	3/9	.	.	.	.	.	.	.	.	rs556491023	3/9	PASS	ENST00000381968	Transcript	.	T:0.0002	ENSG00000149043	19264	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SYT8_HUMAN	SYT8	HGNC	C9K032_HUMAN,C9J253_HUMAN,A6NCR4_HUMAN	.	UPI000066D8CE	SNV	SYT8,synonymous_variant,p.%3D,ENST00000430303,;SYT8,synonymous_variant,p.%3D,ENST00000417052,;SYT8,synonymous_variant,p.%3D,ENST00000381968,;SYT8,synonymous_variant,p.%3D,ENST00000535046,;SYT8,synonymous_variant,p.%3D,ENST00000436964,;SYT8,synonymous_variant,p.%3D,ENST00000341958,;SYT8,synonymous_variant,p.%3D,ENST00000381978,;TNNI2,upstream_gene_variant,,ENST00000381911,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381905,;TNNI2,upstream_gene_variant,,ENST00000381906,;SYT8,upstream_gene_variant,,ENST00000483280,;SYT8,stop_gained,p.Ser54Ter,ENST00000424556,;SYT8,non_coding_transcript_exon_variant,,ENST00000475245,;SYT8,non_coding_transcript_exon_variant,,ENST00000479276,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,non_coding_transcript_exon_variant,,ENST00000482118,;SYT8,non_coding_transcript_exon_variant,,ENST00000464897,;SYT8,non_coding_transcript_exon_variant,,ENST00000479089,;SYT8,upstream_gene_variant,,ENST00000494431,;TNNI2,upstream_gene_variant,,ENST00000468473,;	314	26	30	SUCCESS
SSRP1	6749	.	GRCh37	11	57100232	57100232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	99	0	ENST00000278412.2:c.635G>A	p.Gly212Asp	p.G212D	ENST00000278412	NM_003146.2	212	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7952.1	635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGACCACGA	NONE	.	.	hmmpanther:PTHR13711:SF2,hmmpanther:PTHR13711,Pfam_domain:PF03531,Superfamily_domains:SSF50729,Prints_domain:PR00887	.	.	ENSP00000278412	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000278412	Transcript	.	.	ENSG00000149136	11327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SSRP1_HUMAN	SSRP1	HGNC	E9PPZ7_HUMAN,E9PMD4_HUMAN	.	UPI000013601D	SNV	SSRP1,missense_variant,p.Gly115Asp,ENST00000526696,;SSRP1,missense_variant,p.Gly212Asp,ENST00000278412,;SSRP1,missense_variant,p.Gly115Asp,ENST00000529002,;snoU13,upstream_gene_variant,,ENST00000459327,;RP11-872D17.4,downstream_gene_variant,,ENST00000534162,;SSRP1,non_coding_transcript_exon_variant,,ENST00000293880,;	902	99	77	SUCCESS
MORN3	283385	.	GRCh37	12	122097220	122097220	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	211	0	ENST00000355329.3:c.180C>T	p.Ala60=	p.A60=	ENST00000355329	NM_173855.4	60	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31917.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATGGCTCC	NONE	.	.	hmmpanther:PTHR23084,Gene3D:1h3iA01,SMART_domains:SM00698,Superfamily_domains:0038399	.	.	ENSP00000347486	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000355329	Transcript	.	.	ENSG00000139714	29807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MORN3_HUMAN	MORN3	HGNC	.	.	UPI00000558DC	SNV	MORN3,synonymous_variant,p.%3D,ENST00000355329,;MORN3,synonymous_variant,p.%3D,ENST00000542364,;MORN3,synonymous_variant,p.%3D,ENST00000392462,;	351	211	90	SUCCESS
OVCH1	341350	.	GRCh37	12	29597095	29597095	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	95	0	ENST00000318184.5:c.3000T>C	p.Ser1000=	p.S1000=	ENST00000318184	NM_183378.2	1000	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	.	3000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGAGAATT	NONE	.	.	hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Gene3D:2.60.120.290,Superfamily_domains:SSF49854	.	.	ENSP00000326708	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,synonymous_variant,p.%3D,ENST00000318184,;OVCH1,synonymous_variant,p.%3D,ENST00000537054,;OVCH1-AS1,intron_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1,synonymous_variant,p.%3D,ENST00000539117,;	3000	95	69	SUCCESS
KIF21A	55605	.	GRCh37	12	39688230	39688230	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	294	0	ENST00000361418.5:c.5021A>G	p.Asn1674Ser	p.N1674S	ENST00000361418		1674	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS53776.1	5021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAATTACTG	NONE	.	.	.	.	.	ENSP00000354878	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.08)	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,missense_variant,p.Asn1621Ser,ENST00000541463,;KIF21A,missense_variant,p.Asn1661Ser,ENST00000361961,;KIF21A,missense_variant,p.Asn975Ser,ENST00000552961,;KIF21A,missense_variant,p.Asn1674Ser,ENST00000361418,;KIF21A,missense_variant,p.Asn655Ser,ENST00000551264,;KIF21A,missense_variant,p.Asn1637Ser,ENST00000544797,;KIF21A,missense_variant,p.Asn1675Ser,ENST00000395670,;KIF21A,non_coding_transcript_exon_variant,,ENST00000547733,;	5037	294	101	SUCCESS
NACA	4666	.	GRCh37	12	57111880	57111880	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	100	0	ENST00000356769.3:c.71-3409C>T		p.*24*	ENST00000356769	NM_001113202.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44925.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGGGGGT	NONE	.	.	.	.	.	ENSP00000448035	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,missense_variant,p.Pro1145Leu,ENST00000454682,;NACA,intron_variant,,ENST00000546862,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000356769,;NACA,intron_variant,,ENST00000550952,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000550920,;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551793,;NACA,upstream_gene_variant,,ENST00000550343,;NACA,upstream_gene_variant,,ENST00000548386,;NACA,intron_variant,,ENST00000548084,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000551520,;NACA,upstream_gene_variant,,ENST00000546410,;	.	100	24	SUCCESS
PHB2	11331	.	GRCh37	12	7078680	7078680	+	synonymous_variant	Silent	SNP	G	G	A	rs782246503	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	128	0	ENST00000535923.1:c.273C>T	p.Ser91=	p.S91=	ENST00000535923	NM_001144831.1	91	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53741.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGGAGAT	NONE	.	.	hmmpanther:PTHR23222,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593,Prints_domain:PR00679	.	.	ENSP00000441875	.	3/10	.	.	.	.	.	.	.	.	rs782246503	3/10	PASS	ENST00000535923	Transcript	.	.	ENSG00000215021	30306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHB2_HUMAN	PHB2	HGNC	Q9BXV3_HUMAN	.	UPI00000292BE	SNV	PHB2,synonymous_variant,p.%3D,ENST00000545167,;PHB2,synonymous_variant,p.%3D,ENST00000535923,;PHB2,synonymous_variant,p.%3D,ENST00000399433,;PHB2,synonymous_variant,p.%3D,ENST00000542912,;PHB2,synonymous_variant,p.%3D,ENST00000440277,;PHB2,intron_variant,,ENST00000546111,;PHB2,intron_variant,,ENST00000536316,;EMG1,upstream_gene_variant,,ENST00000261406,;PHB2,upstream_gene_variant,,ENST00000545555,;SCARNA12,upstream_gene_variant,,ENST00000459155,;U47924.29,downstream_gene_variant,,ENST00000606539,;PHB2,non_coding_transcript_exon_variant,,ENST00000544134,;EMG1,intron_variant,,ENST00000607161,;EMG1,upstream_gene_variant,,ENST00000541016,;EMG1,upstream_gene_variant,,ENST00000564245,;EMG1,upstream_gene_variant,,ENST00000539196,;EMG1,upstream_gene_variant,,ENST00000546220,;EMG1,upstream_gene_variant,,ENST00000539535,;PHB2,synonymous_variant,p.%3D,ENST00000544888,;PHB2,non_coding_transcript_exon_variant,,ENST00000546217,;PHB2,non_coding_transcript_exon_variant,,ENST00000543465,;EMG1,upstream_gene_variant,,ENST00000451846,;EMG1,upstream_gene_variant,,ENST00000539440,;PHB2,downstream_gene_variant,,ENST00000542294,;PHB2,upstream_gene_variant,,ENST00000537646,;	555	128	57	SUCCESS
TSC22D1	8848	.	GRCh37	13	45147977	45147977	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs983987034	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	117	0	ENST00000458659.2:c.2234C>T	p.Pro745Leu	p.P745L	ENST00000458659	NM_183422.3	745	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31966.1	2234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGGCTGC	NONE	.	.	hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17	.	.	ENSP00000397435	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000458659	Transcript	.	.	ENSG00000102804	16826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	deleterious(0)	.	T22D1_HUMAN	TSC22D1	HGNC	C9IZ15_HUMAN	.	UPI0000D61A6B	SNV	TSC22D1,missense_variant,p.Pro745Leu,ENST00000458659,;TSC22D1,intron_variant,,ENST00000501704,;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,;	2725	117	84	SUCCESS
FANCM	57697	.	GRCh37	14	45658561	45658561	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	84	0	ENST00000267430.5:c.5336A>G	p.Gln1779Arg	p.Q1779R	ENST00000267430	NM_020937.2	1779	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS32070.1	5336	MUTECT|MUSE	.	TCCACAGAAGG	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.041)	.	tolerated(0.46)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Gln712Arg,ENST00000554809,;FANCM,missense_variant,p.Gln1753Arg,ENST00000542564,;FANCM,missense_variant,p.Gln1295Arg,ENST00000556250,;FANCM,missense_variant,p.Gln1779Arg,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	5421	84	69	SUCCESS
CEP128	145508	.	GRCh37	14	80971304	80971304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	66	0	ENST00000281129.3:c.3132G>T	p.Trp1044Cys	p.W1044C	ENST00000281129	NM_152446.3	1044	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS32130.1	3132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCCAAGA	NONE	.	.	hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	.	.	ENSP00000451162	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000555265	Transcript	.	.	ENSG00000100629	20359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.05)	.	CE128_HUMAN	CEP128	HGNC	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN	.	UPI000022982E	SNV	CEP128,missense_variant,p.Trp1044Cys,ENST00000555265,;CEP128,missense_variant,p.Trp110Cys,ENST00000556061,;CEP128,missense_variant,p.Trp1044Cys,ENST00000281129,;CEP128,non_coding_transcript_exon_variant,,ENST00000553717,;CEP128,3_prime_UTR_variant,,ENST00000554502,;	3508	66	21	SUCCESS
HERC1	8925	.	GRCh37	15	63932493	63932493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	152	0	ENST00000443617.2:c.11759A>G	p.Asn3920Ser	p.N3920S	ENST00000443617	NM_003922.3	3920	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45277.1	11759	MUTECT|MUSE|VARSCANS	.	TTGGATTCCAG	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	61/78	.	.	.	.	.	.	.	.	.	61/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Asn3920Ser,ENST00000443617,;HERC1,upstream_gene_variant,,ENST00000560897,;	11847	152	73	SUCCESS
HERC1	8925	.	GRCh37	15	64021693	64021693	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	166	0	ENST00000443617.2:c.3021+3A>T		p.X1007_splice	ENST00000443617	NM_003922.3	1007		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45277.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCATACCTC	NONE	.	.	.	.	.	ENSP00000390158	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	LOW	15/77	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,splice_region_variant,,ENST00000443617,;HERC1,intron_variant,,ENST00000561400,;	.	166	124	SUCCESS
SALL1	6299	.	GRCh37	16	51171120	51171120	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749740744	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	25	153	0	ENST00000251020.4:c.3878C>T	p.Pro1293Leu	p.P1293L	ENST00000251020	NM_002968.2	1293	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10747.1	3878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGAGCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	3/3	.	.	.	.	.	.	.	.	rs749740744	3/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Pro116Leu,ENST00000541611,;SALL1,missense_variant,p.Pro1293Leu,ENST00000251020,;SALL1,missense_variant,p.Pro1196Leu,ENST00000440970,;SALL1,3_prime_UTR_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000570206,;	3912	153	37	SUCCESS
SREBF1	6720	.	GRCh37	17	17719328	17719328	+	synonymous_variant	Silent	SNP	G	G	A	rs1326222654	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	87	0	ENST00000261646.5:c.2229C>T	p.Ser743=	p.S743=	ENST00000261646	NM_004176.4	743	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32583.1	2319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGCTCAG	NONE	.	.	hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,synonymous_variant,p.%3D,ENST00000338854,;SREBF1,synonymous_variant,p.%3D,ENST00000395757,;SREBF1,synonymous_variant,p.%3D,ENST00000355815,;SREBF1,synonymous_variant,p.%3D,ENST00000261646,;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,upstream_gene_variant,,ENST00000478616,;RAI1,downstream_gene_variant,,ENST00000353383,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,downstream_gene_variant,,ENST00000435530,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000490796,;SREBF1,non_coding_transcript_exon_variant,,ENST00000447641,;SREBF1,non_coding_transcript_exon_variant,,ENST00000584760,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000470247,;	2489	88	51	SUCCESS
C17orf75	64149	.	GRCh37	17	30669160	30669160	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs777098859	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	51	0	ENST00000577809.1:c.-2C>T		p.*1*	ENST00000577809	NM_022344.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58537.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCATTGCGGCG	NONE	.	.	.	.	.	ENSP00000464275	.	1/10	.	.	.	.	.	.	.	.	rs777098859	1/10	PASS	ENST00000577809	Transcript	.	.	ENSG00000108666	30173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NJMU_HUMAN	C17orf75	HGNC	Q8NI83_HUMAN,K7ERX0_HUMAN,K7EIQ2_HUMAN,K7EII1_HUMAN,J3KRR1_HUMAN	.	UPI00001AE577	SNV	C17orf75,5_prime_UTR_variant,,ENST00000577809,;C17orf75,5_prime_UTR_variant,,ENST00000225805,;C17orf75,intron_variant,,ENST00000583774,;C17orf75,upstream_gene_variant,,ENST00000580558,;C17orf75,upstream_gene_variant,,ENST00000583334,;C17orf75,upstream_gene_variant,,ENST00000581747,;RP11-227G15.3,intron_variant,,ENST00000578389,;RP11-227G15.3,intron_variant,,ENST00000581915,;C17orf75,5_prime_UTR_variant,,ENST00000583221,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580485,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580294,;C17orf75,intron_variant,,ENST00000582073,;C17orf75,upstream_gene_variant,,ENST00000578215,;OOSP1P2,downstream_gene_variant,,ENST00000579644,;	49	51	13	SUCCESS
MIS12	79003	.	GRCh37	17	5392627	5392627	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	142	0	ENST00000381165.3:c.445C>T	p.Gln149Ter	p.Q149*	ENST00000381165	NM_024039.2	149	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11074.1	445	MUTECT|MUSE|VARSCANS	.	TTGTTCAGGCC	NONE	.	.	Pfam_domain:PF05859,hmmpanther:PTHR14527	.	.	ENSP00000370557	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381165	Transcript	.	.	ENSG00000167842	24967	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIS12_HUMAN	MIS12	HGNC	I3L4K6_HUMAN,I3L244_HUMAN	.	UPI0000037DAC	SNV	MIS12,stop_gained,p.Gln149Ter,ENST00000573759,;MIS12,stop_gained,p.Gln149Ter,ENST00000381165,;DERL2,upstream_gene_variant,,ENST00000572834,;DERL2,upstream_gene_variant,,ENST00000570848,;DERL2,upstream_gene_variant,,ENST00000571971,;MIS12,downstream_gene_variant,,ENST00000576988,;DERL2,upstream_gene_variant,,ENST00000158771,;MIS12,downstream_gene_variant,,ENST00000576570,;MIS12,downstream_gene_variant,,ENST00000574186,;DERL2,upstream_gene_variant,,ENST00000571968,;DERL2,upstream_gene_variant,,ENST00000571476,;DERL2,upstream_gene_variant,,ENST00000575209,;DERL2,upstream_gene_variant,,ENST00000573637,;DERL2,upstream_gene_variant,,ENST00000574700,;DERL2,upstream_gene_variant,,ENST00000576551,;DERL2,upstream_gene_variant,,ENST00000574952,;	998	142	95	SUCCESS
VEZF1	7716	.	GRCh37	17	56052168	56052168	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	71	257	0	ENST00000581208.1:c.1232C>G	p.Thr411Ser	p.T411S	ENST00000581208	NM_007146.2	411	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS32687.1	1232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGTCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389:SF319,hmmpanther:PTHR11389	.	.	ENSP00000462337	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000581208	Transcript	.	.	ENSG00000136451	12949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.57)	.	VEZF1_HUMAN	VEZF1	HGNC	.	.	UPI000013D01B	SNV	VEZF1,missense_variant,p.Thr411Ser,ENST00000581208,;VEZF1,missense_variant,p.Thr230Ser,ENST00000258963,;VEZF1,missense_variant,p.Thr402Ser,ENST00000584396,;	1273	257	168	SUCCESS
CLTC	1213	.	GRCh37	17	57738828	57738828	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	124	0	ENST00000269122.3:c.1192A>G	p.Ile398Val	p.I398V	ENST00000269122	NM_004859.3	398	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32696.1	1192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTATCCGT	NONE	.	.	hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Pfam_domain:PF13838,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	8/32	.	.	.	.	.	.	.	.	.	8/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.13)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Ile398Val,ENST00000269122,;CLTC,missense_variant,p.Ile398Val,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,3_prime_UTR_variant,,ENST00000483176,;CLTC,upstream_gene_variant,,ENST00000466513,;	1466	124	76	SUCCESS
CCDC40	55036	.	GRCh37	17	78011929	78011929	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	98	0	ENST00000397545.4:c.37C>T	p.Pro13Ser	p.P13S	ENST00000397545	NM_017950.3	13	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42395.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCCGGAA	NONE	.	.	.	.	.	ENSP00000380679	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000397545	Transcript	.	.	ENSG00000141519	26090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated_low_confidence(0.2)	.	CCD40_HUMAN	CCDC40	HGNC	I3L2X6_HUMAN,I3L292_HUMAN	.	UPI0000201739	SNV	CCDC40,missense_variant,p.Pro13Ser,ENST00000397545,;CCDC40,missense_variant,p.Pro13Ser,ENST00000374876,;CCDC40,missense_variant,p.Pro13Ser,ENST00000269318,;CCDC40,missense_variant,p.Pro13Ser,ENST00000374877,;CCDC40,5_prime_UTR_variant,,ENST00000574099,;CCDC40,5_prime_UTR_variant,,ENST00000576033,;TBC1D16,upstream_gene_variant,,ENST00000310924,;CCDC40,intron_variant,,ENST00000572270,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572083,;CCDC40,non_coding_transcript_exon_variant,,ENST00000576241,;CCDC40,upstream_gene_variant,,ENST00000573474,;	64	98	69	SUCCESS
RGL3	57139	.	GRCh37	19	11517408	11517408	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	62	0	ENST00000380456.3:c.770T>A	p.Leu257His	p.L257H	ENST00000380456	NM_001035223.2	257	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS54221.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGAGGGTC	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF181,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000377075	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000393423	Transcript	.	.	ENSG00000205517	30282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGL3_HUMAN	RGL3	HGNC	.	.	UPI0001A5C4AD	SNV	RGL3,missense_variant,p.Leu257His,ENST00000380456,;RGL3,missense_variant,p.Leu257His,ENST00000393423,;Y_RNA,upstream_gene_variant,,ENST00000365487,;RGL3,3_prime_UTR_variant,,ENST00000563726,;RGL3,3_prime_UTR_variant,,ENST00000562663,;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,;RGL3,non_coding_transcript_exon_variant,,ENST00000453604,;RGL3,non_coding_transcript_exon_variant,,ENST00000565895,;RGL3,downstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000589032,;RGL3,downstream_gene_variant,,ENST00000561687,;	820	62	29	SUCCESS
STK11	6794	.	GRCh37	19	1221320	1221320	+	synonymous_variant	Silent	SNP	G	G	A	rs756095270	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	42	0	ENST00000326873.7:c.843G>A	p.Pro281=	p.P281=	ENST00000326873	NM_000455.4	281	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45896.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCTCTC	CODON|p.0?|c.1_1302del1302|16,BUFFER|p.P281fs*6|c.842delC|6,BUFFER|p.L282fs*3|c.842_843insC|3,BUFFER|p.P281L|c.842C>T|11	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF1,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000324856	.	6/10	.	.	.	.	.	.	.	.	rs756095270,CD982962,KinMutBase_STK11_DNA:g.15408delG	6/10	PASS	ENST00000326873	Transcript	1	.	ENSG00000118046	11389	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,0	.	.	.	.	.	.	STK11_HUMAN	STK11	HGNC	Q9NS52_HUMAN	.	UPI0000136105	SNV	STK11,synonymous_variant,p.%3D,ENST00000326873,;STK11,synonymous_variant,p.%3D,ENST00000586243,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,3_prime_UTR_variant,,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,upstream_gene_variant,,ENST00000585465,;	2016	42	39	SUCCESS
MAST1	22983	.	GRCh37	19	12975699	12975699	+	synonymous_variant	Silent	SNP	G	G	T	rs750816789	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	126	0	ENST00000251472.4:c.1443G>T	p.Thr481=	p.T481=	ENST00000251472	NM_014975.2	481	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32921.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGGTGCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150,PROSITE_profiles:PS50011	.	.	ENSP00000251472	.	13/26	.	.	.	.	.	.	.	.	rs750816789	13/26	PASS	ENST00000251472	Transcript	.	.	ENSG00000105613	19034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAST1_HUMAN	MAST1	HGNC	.	.	UPI000004A042	SNV	MAST1,synonymous_variant,p.%3D,ENST00000251472,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000589040,;MAST1,upstream_gene_variant,,ENST00000590553,;	1482	126	50	SUCCESS
BRD4	23476	.	GRCh37	19	15350762	15350762	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	187	1	ENST00000263377.2:c.3241C>T	p.His1081Tyr	p.H1081Y	ENST00000263377	NM_058243.2	1081	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS12328.1	3241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGGGTCA	NONE	.	.	.	.	.	ENSP00000263377	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,missense_variant,p.His1081Tyr,ENST00000263377,;AC004257.3,upstream_gene_variant,,ENST00000602793,;BRD4,downstream_gene_variant,,ENST00000594066,;	3463	188	85	SUCCESS
ZNF676	163223	.	GRCh37	19	22364225	22364225	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	68	435	0	ENST00000397121.2:c.294del	p.Tyr98Ter	p.Y98*	ENST00000397121	NM_001001411.2	98	taT/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS42539.1	294	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTATTATAACC	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	deletion	ZNF676,frameshift_variant,p.Tyr98Ter,ENST00000397121,;	612	435	223	SUCCESS
ZNF302	55900	.	GRCh37	19	35174079	35174079	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	164	0	ENST00000505242.1:c.150A>G	p.Pro50=	p.P50=	ENST00000505242		50	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46042.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCATATGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000421028	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000505242	Transcript	.	.	ENSG00000089335	13848	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN302_HUMAN	ZNF302	HGNC	Q7Z4B9_HUMAN,D6RAM0_HUMAN	.	UPI0000001668	SNV	ZNF302,synonymous_variant,p.%3D,ENST00000506901,;ZNF302,synonymous_variant,p.%3D,ENST00000505163,;ZNF302,synonymous_variant,p.%3D,ENST00000457781,;ZNF302,synonymous_variant,p.%3D,ENST00000507959,;ZNF302,synonymous_variant,p.%3D,ENST00000423823,;ZNF302,synonymous_variant,p.%3D,ENST00000446502,;ZNF302,synonymous_variant,p.%3D,ENST00000505242,;ZNF302,synonymous_variant,p.%3D,ENST00000502743,;ZNF302,synonymous_variant,p.%3D,ENST00000505365,;ZNF302,intron_variant,,ENST00000509528,;ZNF302,non_coding_transcript_exon_variant,,ENST00000509196,;ZNF302,downstream_gene_variant,,ENST00000512455,;ZNF302,downstream_gene_variant,,ENST00000510002,;	644	164	101	SUCCESS
KMT2B	9757	.	GRCh37	19	36211168	36211168	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs540162147	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	47	0	ENST00000222270.7:c.919T>C	p.Phe307Leu	p.F307L	ENST00000222270	NM_014727.1	307	Ttt/Ctt	0	.	C:0	.	C:0	.	C	F/L	protein_coding	YES	CCDS46055.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTTTGTT	NONE	by1000G	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	C:0	.	ENSP00000222270	C:0	3/37	.	.	.	.	.	.	.	.	rs540162147	3/37	PASS	ENST00000222270	Transcript	.	C:0.0002	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0.001	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Phe307Leu,ENST00000222270,;KMT2B,missense_variant,p.Phe307Leu,ENST00000341701,;KMT2B,missense_variant,p.Phe307Leu,ENST00000420124,;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,non_coding_transcript_exon_variant,,ENST00000606995,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	919	47	61	SUCCESS
C3	718	.	GRCh37	19	6682236	6682236	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs148227405	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	137	0	ENST00000245907.6:c.4177C>G	p.Arg1393Gly	p.R1393G	ENST00000245907	NM_000064.2	1393	Cgg/Ggg	0	A:0	.	.	.	.	C	R/G	protein_coding	YES	CCDS32883.1	4177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGGTACC	NONE	byCluster	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Gene3D:1ayoA00,Superfamily_domains:SSF49410	.	A:0.0001	ENSP00000245907	.	34/41	.	.	.	.	.	.	.	.	rs148227405	34/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Arg100Gly,ENST00000596548,;C3,missense_variant,p.Arg1393Gly,ENST00000245907,;C3,intron_variant,,ENST00000601008,;C3,upstream_gene_variant,,ENST00000602229,;C3,upstream_gene_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;C3,upstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000596179,;C3,downstream_gene_variant,,ENST00000596238,;	4270	137	52	SUCCESS
KAZN	23254	.	GRCh37	1	14925544	14925544	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765773337	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	41	128	0	ENST00000376030.2:c.51G>C	p.Gln17His	p.Q17H	ENST00000376030	NM_201628.2	17	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS152.2	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGTCGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12776	.	.	ENSP00000365198	.	1/15	.	.	.	.	.	.	.	.	rs765773337	1/15	PASS	ENST00000376030	Transcript	.	.	ENSG00000189337	29173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	KAZRN_HUMAN	KAZN	HGNC	B4DEV2_HUMAN,B0QYQ6_HUMAN	.	UPI0000E1E68A	SNV	KAZN,missense_variant,p.Gln17His,ENST00000376030,;KAZN,missense_variant,p.Gln17His,ENST00000422387,;KAZN,missense_variant,p.Gln17His,ENST00000503743,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;	345	128	56	SUCCESS
CELF3	11189	.	GRCh37	1	151689156	151689156	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	54	0	ENST00000290583.4:c.-660T>G		p.*220*	ENST00000290583	NM_001172648.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1002.1	.	MUTECT|MUSE	.	CTCCCACCCCC	NONE	.	.	.	.	.	ENSP00000290583	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000290583	Transcript	.	.	ENSG00000159409	11967	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CELF3_HUMAN	CELF3	HGNC	Q8IZ97_HUMAN	.	UPI000013F059	SNV	CELF3,5_prime_UTR_variant,,ENST00000290583,;CELF3,intron_variant,,ENST00000420342,;RIIAD1,intron_variant,,ENST00000326413,;AL589765.1,intron_variant,,ENST00000442233,;RIIAD1,upstream_gene_variant,,ENST00000479191,;CELF3,upstream_gene_variant,,ENST00000290585,;CELF3,intron_variant,,ENST00000478829,;CELF3,upstream_gene_variant,,ENST00000479893,;	135	54	111	SUCCESS
TTC24	164118	.	GRCh37	1	156552954	156552954	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780019772	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	61	263	0	ENST00000368236.3:c.1031G>T	p.Arg344Leu	p.R344L	ENST00000368236	NM_001105669.2	344	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS53379.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGGGACT	NONE	byFrequency	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13424,Gene3D:1.25.40.10,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF98,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000357219	.	4/11	.	.	.	.	.	.	.	.	rs780019772	4/11	PASS	ENST00000368236	Transcript	.	.	ENSG00000187862	32348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0.01)	.	TTC24_HUMAN	TTC24	HGNC	.	.	UPI0000418EC1	SNV	TTC24,missense_variant,p.Arg344Leu,ENST00000368236,;TTC24,missense_variant,p.Arg344Leu,ENST00000368237,;AL365181.1,downstream_gene_variant,,ENST00000581084,;TTC24,non_coding_transcript_exon_variant,,ENST00000413282,;TTC24,non_coding_transcript_exon_variant,,ENST00000495690,;TTC24,intron_variant,,ENST00000478081,;TTC24,upstream_gene_variant,,ENST00000462049,;	1067	263	227	SUCCESS
VANGL2	57216	.	GRCh37	1	160388964	160388964	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1182443634	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	38	0	ENST00000368061.2:c.365C>T	p.Thr122Met	p.T122M	ENST00000368061	NM_020335.2	122	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS30915.1	365	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACGCCTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10,Pfam_domain:PF06638,PIRSF_domain:PIRSF007991	.	.	ENSP00000357040	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000368061	Transcript	.	.	ENSG00000162738	15511	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	VANG2_HUMAN	VANGL2	HGNC	.	.	UPI00001C1D79	SNV	VANGL2,missense_variant,p.Thr122Met,ENST00000368061,;VANGL2,upstream_gene_variant,,ENST00000483408,;	839	38	58	SUCCESS
C1orf226	400793	.	GRCh37	1	162353415	162353415	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1226576898	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	31	0	ENST00000458626.2:c.761C>T	p.Ala254Val	p.A254V	ENST00000458626	NM_001085375.1	254	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44268.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCACGGA	NONE	.	.	Pfam_domain:PF15429	.	.	ENSP00000413150	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426197	Transcript	.	.	ENSG00000239887	34351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	tolerated(0.05)	.	CA226_HUMAN	C1orf226	HGNC	F8W6W0_HUMAN	.	UPI00006C02B3	SNV	C1orf226,missense_variant,p.Ala254Val,ENST00000458626,;C1orf226,missense_variant,p.Ala297Val,ENST00000426197,;RP11-565P22.6,downstream_gene_variant,,ENST00000431696,;C1orf226,downstream_gene_variant,,ENST00000420220,;NOS1AP,downstream_gene_variant,,ENST00000367932,;	963	31	40	SUCCESS
DUSP27	0	.	GRCh37	1	167095694	167095694	+	synonymous_variant	Silent	SNP	C	C	T	rs756297966	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	21	0	ENST00000361200.2:c.1326C>T	p.Ser442=	p.S442=	ENST00000361200		442	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30932.1	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCGTGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs756297966	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1492	21	49	SUCCESS
PIGC	5279	.	GRCh37	1	172413127	172413127	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	40	59	0	ENST00000344529.4:c.-209+1G>T		p.X70_splice	ENST00000344529		70		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTACCCGAG	NONE	.	.	.	.	.	ENSP00000356702	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367728	Transcript	.	.	ENSG00000135845	8960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGC_HUMAN	PIGC	HGNC	.	.	UPI0000131AB1	SNV	PIGC,splice_donor_variant,,ENST00000258324,;PIGC,splice_donor_variant,,ENST00000344529,;PIGC,5_prime_UTR_variant,,ENST00000367728,;C1orf105,intron_variant,,ENST00000367727,;C1orf105,upstream_gene_variant,,ENST00000488100,;PIGC,splice_donor_variant,,ENST00000484368,;PIGC,upstream_gene_variant,,ENST00000478184,;	100	59	66	SUCCESS
APOBEC4	403314	.	GRCh37	1	183617170	183617170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	481	170	676	0	ENST00000308641.4:c.747T>A	p.Asn249Lys	p.N249K	ENST00000308641	NM_203454.2	249	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS1358.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGATTCCT	NONE	.	.	.	.	.	ENSP00000310622	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000308641	Transcript	.	.	ENSG00000173627	32152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.49)	.	ABEC4_HUMAN	APOBEC4	HGNC	.	.	UPI0000071339	SNV	APOBEC4,missense_variant,p.Asn249Lys,ENST00000308641,;RGL1,intron_variant,,ENST00000304685,;RGL1,intron_variant,,ENST00000536277,;APOBEC4,intron_variant,,ENST00000481562,;	1019	676	651	SUCCESS
ZNF683	257101	.	GRCh37	1	26694190	26694190	+	synonymous_variant	Silent	SNP	A	A	G	rs772480473	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	122	0	ENST00000403843.1:c.213T>C	p.Ser71=	p.S71=	ENST00000403843		71	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS279.2	213	MUTECT|VARSCANS	.	AGTGCAGACCT	NONE	byFrequency	.	hmmpanther:PTHR23228:SF112,hmmpanther:PTHR23228	.	.	ENSP00000363320	.	3/6	.	.	.	.	.	.	.	.	rs772480473	3/6	PASS	ENST00000374204	Transcript	.	.	ENSG00000176083	28495	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN683_HUMAN	ZNF683	HGNC	.	.	UPI000006F8C4	SNV	ZNF683,synonymous_variant,p.%3D,ENST00000451801,;ZNF683,synonymous_variant,p.%3D,ENST00000349618,;ZNF683,synonymous_variant,p.%3D,ENST00000436292,;ZNF683,synonymous_variant,p.%3D,ENST00000403843,;ZNF683,synonymous_variant,p.%3D,ENST00000455900,;ZNF683,synonymous_variant,p.%3D,ENST00000416125,;ZNF683,synonymous_variant,p.%3D,ENST00000374204,;ZNF683,synonymous_variant,p.%3D,ENST00000423508,;ZNF683,intron_variant,,ENST00000454975,;ZNF683,intron_variant,,ENST00000453132,;	331	122	49	SUCCESS
MIR1289-1	100302125	.	GRCh37	20	34041779	34041779	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	39	126	0	ENST00000408836.1:n.141A>G		p.*47*	ENST00000408836				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTTCCCAA	NONE	.	.	.	.	.	ENSP00000363492	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374372	Transcript	1	.	ENSG00000125965	4220	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF5_HUMAN	GDF5	HGNC	D3YR76_HUMAN,D3YQT0_HUMAN	.	UPI000002E33B	SNV	GDF5,intron_variant,,ENST00000374372,;CEP250,upstream_gene_variant,,ENST00000446710,;CEP250,upstream_gene_variant,,ENST00000397524,;CEP250,upstream_gene_variant,,ENST00000342580,;CEP250,upstream_gene_variant,,ENST00000420564,;CEP250,upstream_gene_variant,,ENST00000397527,;MIR1289-1,non_coding_transcript_exon_variant,,ENST00000408836,;CEP250,upstream_gene_variant,,ENST00000476146,;CEP250,upstream_gene_variant,,ENST00000461386,;	.	126	150	SUCCESS
TMEM50B	757	.	GRCh37	21	34841213	34841213	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	93	0	ENST00000420455.1:c.-21A>T		p.*7*	ENST00000420455				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13625.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAATTTTTC	NONE	.	.	.	.	.	ENSP00000439768	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000542230	Transcript	.	.	ENSG00000142188	1280	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM50B_HUMAN	TMEM50B	HGNC	C9K0I4_HUMAN	.	UPI0000048EAC	SNV	TMEM50B,5_prime_UTR_variant,,ENST00000432504,;TMEM50B,5_prime_UTR_variant,,ENST00000542230,;IFNGR2,intron_variant,,ENST00000421802,;AP000301.1,downstream_gene_variant,,ENST00000581654,;TMEM50B,5_prime_UTR_variant,,ENST00000441128,;TMEM50B,5_prime_UTR_variant,,ENST00000442441,;TMEM50B,5_prime_UTR_variant,,ENST00000420455,;TMEM50B,non_coding_transcript_exon_variant,,ENST00000459909,;TMEM50B,upstream_gene_variant,,ENST00000474272,;	195	93	62	SUCCESS
HDAC10	83933	.	GRCh37	22	50688345	50688345	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	64	1	ENST00000216271.5:c.438G>T	p.Val146=	p.V146=	ENST00000216271	NM_032019.5	146	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14088.1	438	RADIA|MUTECT|MUSE	.	TTGAACACACA	NONE	.	.	hmmpanther:PTHR10625:SF25,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,Superfamily_domains:SSF52768,Prints_domain:PR01270	.	.	ENSP00000216271	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000216271	Transcript	.	.	ENSG00000100429	18128	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HDA10_HUMAN	HDAC10	HGNC	.	.	UPI000012C3A6	SNV	HDAC10,synonymous_variant,p.%3D,ENST00000349505,;HDAC10,synonymous_variant,p.%3D,ENST00000216271,;HDAC10,synonymous_variant,p.%3D,ENST00000448072,;MAPK12,downstream_gene_variant,,ENST00000215659,;TUBGCP6,upstream_gene_variant,,ENST00000439308,;MAPK12,downstream_gene_variant,,ENST00000395780,;HDAC10,non_coding_transcript_exon_variant,,ENST00000470965,;HDAC10,non_coding_transcript_exon_variant,,ENST00000498366,;HDAC10,non_coding_transcript_exon_variant,,ENST00000483222,;HDAC10,non_coding_transcript_exon_variant,,ENST00000496909,;HDAC10,non_coding_transcript_exon_variant,,ENST00000489424,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,downstream_gene_variant,,ENST00000497483,;HDAC10,synonymous_variant,p.%3D,ENST00000454936,;HDAC10,3_prime_UTR_variant,,ENST00000429374,;HDAC10,3_prime_UTR_variant,,ENST00000415993,;HDAC10,non_coding_transcript_exon_variant,,ENST00000488270,;HDAC10,upstream_gene_variant,,ENST00000475965,;HDAC10,upstream_gene_variant,,ENST00000471375,;HDAC10,downstream_gene_variant,,ENST00000482213,;HDAC10,upstream_gene_variant,,ENST00000496235,;HDAC10,upstream_gene_variant,,ENST00000477814,;MAPK12,downstream_gene_variant,,ENST00000488504,;MAPK12,downstream_gene_variant,,ENST00000482969,;TUBGCP6,upstream_gene_variant,,ENST00000498611,;MAPK12,downstream_gene_variant,,ENST00000497738,;MAPK12,downstream_gene_variant,,ENST00000467891,;MAPK12,downstream_gene_variant,,ENST00000496942,;HDAC10,upstream_gene_variant,,ENST00000470378,;HDAC10,upstream_gene_variant,,ENST00000476310,;HDAC10,upstream_gene_variant,,ENST00000497952,;	791	65	59	SUCCESS
NCKAP5	344148	.	GRCh37	2	133538773	133538773	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	117	399	1	ENST00000409261.1:c.4901A>C	p.Glu1634Ala	p.E1634A	ENST00000409261	NM_207363.2	1634	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS46418.1	4901	RADIA|SOMATICSNIPER|VARSCANS	.	CACTTTCTGTC	NONE	.	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740,Pfam_domain:PF15246	.	.	ENSP00000387128	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.558)	.	tolerated(0.06)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Glu1634Ala,ENST00000409261,;NCKAP5,missense_variant,p.Glu1634Ala,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,non_coding_transcript_exon_variant,,ENST00000473859,;	5275	400	263	SUCCESS
SESTD1	91404	.	GRCh37	2	180036920	180036920	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	70	271	0	ENST00000428443.3:c.296A>G	p.Lys99Arg	p.K99R	ENST00000428443	NM_178123.4	99	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33338.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTTTACC	NONE	.	.	Pfam_domain:PF13716,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19,PROSITE_profiles:PS50191	.	.	ENSP00000415332	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.02)	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	SNV	SESTD1,missense_variant,p.Lys99Arg,ENST00000428443,;SESTD1,missense_variant,p.Lys99Arg,ENST00000435047,;SESTD1,missense_variant,p.Lys99Arg,ENST00000440010,;SESTD1,non_coding_transcript_exon_variant,,ENST00000486468,;SESTD1,downstream_gene_variant,,ENST00000452991,;	613	271	179	SUCCESS
TRAK2	66008	.	GRCh37	2	202245372	202245372	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	49	175	0	ENST00000332624.3:c.2639T>A	p.Leu880Ter	p.L880*	ENST00000332624	NM_015049.2	880	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS2347.1	2639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATAAACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,stop_gained,p.Leu880Ter,ENST00000332624,;	3068	175	120	SUCCESS
NGEF	25791	.	GRCh37	2	233877926	233877926	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	233	0	ENST00000264051.3:c.-223T>A		p.*75*	ENST00000264051	NM_019850.2	65		0	.	.	.	.	.	T	K/N	protein_coding	YES	.	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAAAACTT	NONE	.	.	.	.	.	ENSP00000386846	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000409905	Transcript	.	.	ENSG00000222001	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	.	.	.	AC106876.2	Clone_based_vega_gene	B9A007_HUMAN	.	UPI0000DD7A97	SNV	AC106876.2,missense_variant,p.Lys65Asn,ENST00000409905,;NGEF,5_prime_UTR_variant,,ENST00000264051,;AC106876.2,non_coding_transcript_exon_variant,,ENST00000463534,;	433	233	92	SUCCESS
THUMPD2	80745	.	GRCh37	2	39996165	39996165	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	48	313	2	ENST00000505747.1:c.673-524A>G		p.*225*	ENST00000505747	NM_025264.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1805.2	.	RADIA|SOMATICSNIPER|VARSCANS	.	CGCTCTTCTCT	NONE	.	.	.	.	.	ENSP00000423933	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000505747	Transcript	.	.	ENSG00000138050	14890	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THUM2_HUMAN	THUMPD2	HGNC	D6W593_HUMAN	.	UPI0000D6DA73	SNV	THUMPD2,synonymous_variant,p.%3D,ENST00000454352,;THUMPD2,intron_variant,,ENST00000505747,;THUMPD2,intron_variant,,ENST00000260619,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000403537,;THUMPD2,downstream_gene_variant,,ENST00000531687,;THUMPD2,synonymous_variant,p.%3D,ENST00000510781,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000460072,;THUMPD2,intron_variant,,ENST00000530522,;THUMPD2,intron_variant,,ENST00000378727,;THUMPD2,upstream_gene_variant,,ENST00000527689,;	.	315	131	SUCCESS
TRPC1	7220	.	GRCh37	3	142525018	142525018	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	90	238	0	ENST00000476941.1:c.2323A>G	p.Ile775Val	p.I775V	ENST00000476941	NM_001251845.1	775	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS58856.1	2323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAATAAGG	BUFFER|p.R738Q|c.2213G>A|3	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF3	.	.	ENSP00000419313	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000476941	Transcript	.	.	ENSG00000144935	12333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.5)	.	TRPC1_HUMAN	TRPC1	HGNC	.	.	UPI00001374A4	SNV	TRPC1,missense_variant,p.Ile741Val,ENST00000273482,;TRPC1,missense_variant,p.Ile775Val,ENST00000476941,;RNU7-47P,downstream_gene_variant,,ENST00000515978,;	2809	238	210	SUCCESS
SLITRK3	22865	.	GRCh37	3	164907129	164907129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	61	0	ENST00000241274.3:c.1490C>T	p.Pro497Leu	p.P497L	ENST00000241274	NM_014926.2	497	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3197.1	1490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGCTGG	NONE	.	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.02)	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,missense_variant,p.Pro497Leu,ENST00000475390,;SLITRK3,missense_variant,p.Pro497Leu,ENST00000241274,;SLITRK3,downstream_gene_variant,,ENST00000497724,;	1934	61	41	SUCCESS
TTC14	151613	.	GRCh37	3	180320104	180320104	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	36	0	ENST00000296015.4:c.55T>G	p.Ser19Ala	p.S19A	ENST00000296015	NM_133462.3	19	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS3237.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTCTCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184	.	.	ENSP00000296015	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.17)	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,missense_variant,p.Ser19Ala,ENST00000491380,;TTC14,missense_variant,p.Ser19Ala,ENST00000382584,;TTC14,missense_variant,p.Ser19Ala,ENST00000296015,;TTC14,missense_variant,p.Ser19Ala,ENST00000412756,;TTC14,upstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000473854,;TTC14,upstream_gene_variant,,ENST00000495660,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,missense_variant,p.Ser19Ala,ENST00000465065,;TTC14,missense_variant,p.Ser19Ala,ENST00000470669,;TTC14,missense_variant,p.Ser19Ala,ENST00000462895,;	187	36	17	SUCCESS
ENTPD3	956	.	GRCh37	3	40442397	40442397	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	64	352	0	ENST00000301825.3:c.181C>T	p.Leu61=	p.L61=	ENST00000301825	NM_001248.2	61	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2691.1	181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGCTGGAT	NONE	.	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF38,Pfam_domain:PF01150	.	.	ENSP00000301825	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000301825	Transcript	.	.	ENSG00000168032	3365	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP3_HUMAN	ENTPD3	HGNC	.	.	UPI000013E75E	SNV	ENTPD3,synonymous_variant,p.%3D,ENST00000445129,;ENTPD3,synonymous_variant,p.%3D,ENST00000456402,;ENTPD3,synonymous_variant,p.%3D,ENST00000439533,;ENTPD3,synonymous_variant,p.%3D,ENST00000301825,;ENTPD3-AS1,intron_variant,,ENST00000425156,;ENTPD3-AS1,intron_variant,,ENST00000452768,;ENTPD3-AS1,intron_variant,,ENST00000439293,;	299	352	145	SUCCESS
OGG1	4968	.	GRCh37	3	9792677	9792677	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	154	0	ENST00000344629.7:c.186A>C	p.Gln62His	p.Q62H	ENST00000344629		62	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS2576.1	186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCAAGTATG	NONE	.	.	Superfamily_domains:SSF55945,Gene3D:2xhiA01,TIGRFAM_domain:TIGR00588,Pfam_domain:PF07934,hmmpanther:PTHR10242,hmmpanther:PTHR10242:SF2	.	.	ENSP00000306561	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000302036	Transcript	.	.	ENSG00000114026	8125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.12)	.	OGG1_HUMAN	OGG1	HGNC	E5KPM5_HUMAN	.	UPI000002B01B	SNV	OGG1,missense_variant,p.Gln62His,ENST00000349503,;OGG1,missense_variant,p.Gln62His,ENST00000302036,;OGG1,missense_variant,p.Gln62His,ENST00000449570,;OGG1,missense_variant,p.Gln62His,ENST00000344629,;OGG1,missense_variant,p.Gln62His,ENST00000339511,;OGG1,missense_variant,p.Gln62His,ENST00000302003,;OGG1,missense_variant,p.Gln62His,ENST00000302008,;OGG1,missense_variant,p.Gln62His,ENST00000383826,;OGG1,intron_variant,,ENST00000441094,;OGG1,upstream_gene_variant,,ENST00000416333,;OGG1,upstream_gene_variant,,ENST00000426518,;BRPF1,downstream_gene_variant,,ENST00000424362,;BRPF1,downstream_gene_variant,,ENST00000433861,;BRPF1,downstream_gene_variant,,ENST00000302054,;BRPF1,downstream_gene_variant,,ENST00000457855,;OGG1,upstream_gene_variant,,ENST00000352937,;BRPF1,downstream_gene_variant,,ENST00000383829,;OGG1,non_coding_transcript_exon_variant,,ENST00000436092,;OGG1,upstream_gene_variant,,ENST00000383825,;OGG1,missense_variant,p.Gln40His,ENST00000429146,;OGG1,non_coding_transcript_exon_variant,,ENST00000432857,;OGG1,intron_variant,,ENST00000425665,;BRPF1,downstream_gene_variant,,ENST00000497565,;	529	154	67	SUCCESS
DCLK2	166614	.	GRCh37	4	151000159	151000159	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs772788043	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	28	50	0	ENST00000296550.7:c.-21G>A		p.*7*	ENST00000296550	NM_001040260.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47142.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCGGACGCC	NONE	byFrequency	21	.	.	.	ENSP00000303887	.	.	.	.	.	.	.	.	.	.	rs772788043	.	PASS	ENST00000302176	Transcript	.	.	ENSG00000170390	19002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCLK2_HUMAN	DCLK2	HGNC	.	.	UPI0000D615C9	SNV	DCLK2,5_prime_UTR_variant,,ENST00000296550,;DCLK2,upstream_gene_variant,,ENST00000302176,;DCLK2,upstream_gene_variant,,ENST00000506325,;DCLK2,5_prime_UTR_variant,,ENST00000411937,;	.	50	37	SUCCESS
SLC12A7	10723	.	GRCh37	5	1079607	1079607	+	synonymous_variant	Silent	SNP	G	G	A	rs746691377	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	101	0	ENST00000264930.5:c.1302C>T	p.Ile434=	p.I434=	ENST00000264930	NM_006598.2	434	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34129.1	1302	RADIA|MUTECT	.	GCCATGATACC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	10/24	.	.	.	.	.	.	.	.	rs746691377	10/24	PASS	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,synonymous_variant,p.%3D,ENST00000264930,;SLC12A7,upstream_gene_variant,,ENST00000513223,;SLC12A7,non_coding_transcript_exon_variant,,ENST00000510943,;SLC12A7,upstream_gene_variant,,ENST00000504576,;	1346	101	35	SUCCESS
PLAC8L1	153770	.	GRCh37	5	145483862	145483862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	270	0	ENST00000311450.4:c.13G>A	p.Gly5Arg	p.G5R	ENST00000311450	NM_001029869.1	5	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34264.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCAAACC	NONE	.	.	hmmpanther:PTHR15907:SF38,hmmpanther:PTHR15907	.	.	ENSP00000309087	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000311450	Transcript	.	.	ENSG00000173261	31746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated_low_confidence(0.22)	.	PL8L1_HUMAN	PLAC8L1	HGNC	.	.	UPI000015FDFA	SNV	PLAC8L1,missense_variant,p.Gly5Arg,ENST00000311450,;RP11-118M9.3,intron_variant,,ENST00000514002,;PLAC8L1,missense_variant,p.Gly5Arg,ENST00000512998,;	71	270	126	SUCCESS
C6	729	.	GRCh37	5	41201723	41201723	+	synonymous_variant	Silent	SNP	G	G	A	rs398122811	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	72	319	0	ENST00000263413.3:c.237C>T	p.Pro79=	p.P79=	ENST00000263413	NM_001115131.2	79	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3936.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TTGATGGGGCA	NONE	.	.	SMART_domains:SM00209,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,PROSITE_profiles:PS50092	.	.	ENSP00000263413	.	3/18	.	.	.	.	.	.	.	.	rs398122811,CD961874,C6base_D0108:g.18158delC,COSM354490	3/18	PASS	ENST00000263413	Transcript	1	.	ENSG00000039537	1339	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,0,1	.	.	.	.	.	0,0,0,1	CO6_HUMAN	C6	HGNC	C9JX36_HUMAN,C9JC72_HUMAN	.	UPI000013D401	SNV	C6,synonymous_variant,p.%3D,ENST00000263413,;C6,synonymous_variant,p.%3D,ENST00000417809,;C6,synonymous_variant,p.%3D,ENST00000337836,;C6,downstream_gene_variant,,ENST00000433294,;	502	319	171	SUCCESS
TRIM15	89870	.	GRCh37	6	30138279	30138279	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	97	0	ENST00000376694.4:c.733T>C	p.Cys245Arg	p.C245R	ENST00000376694	NM_033229.2	245	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS4677.1	733	RADIA|VARSCANS	.	GCAGGTGTGAG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF259	.	.	ENSP00000365884	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000376694	Transcript	.	.	ENSG00000204610	16284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.293)	.	deleterious(0.01)	.	TRI15_HUMAN	TRIM15	HGNC	Q5SRL0_HUMAN	.	UPI0000137066	SNV	TRIM15,missense_variant,p.Cys82Arg,ENST00000433744,;TRIM15,missense_variant,p.Cys245Arg,ENST00000376694,;TRIM15,intron_variant,,ENST00000376688,;TRIM15,non_coding_transcript_exon_variant,,ENST00000477944,;	1202	97	38	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	173	0	ENST00000309268.6:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000309268		432	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4980.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTGTCTGT	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM2151856	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.58)	.	deleterious_low_confidence(0.03)	1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ile,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2287	173	102	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	171	0	ENST00000309268.6:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000309268		432	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4980.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTCTGTC	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM3162419,COSM3745352	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	deleterious_low_confidence(0)	1,1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ser,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2286	172	101	SUCCESS
LAMB4	22798	.	GRCh37	7	107704297	107704298	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	145	53	360	0	ENST00000205386.4:c.2969_2970del	p.Glu990ValfsTer54	p.E990Vfs*54	ENST00000205386		990	gAG/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS34732.1	2969-2970	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGCACTCCCCT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000373433	.	22/34	.	.	.	.	.	.	.	.	.	22/34	PASS	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	deletion	LAMB4,frameshift_variant,p.Glu990ValfsTer54,ENST00000388781,;LAMB4,frameshift_variant,p.Glu16ValfsTer54,ENST00000422975,;LAMB4,frameshift_variant,p.Glu990ValfsTer54,ENST00000388780,;LAMB4,frameshift_variant,p.Glu990ValfsTer54,ENST00000205386,;LAMB4,non_coding_transcript_exon_variant,,ENST00000471677,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	3053-3054	360	198	SUCCESS
RNF216	54476	.	GRCh37	7	5681008	5681008	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	40	92	0	ENST00000425013.2:c.1989-1G>T		p.X663_splice	ENST00000425013	NM_207111.3	663		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34594.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACTGAAA	NONE	.	.	.	.	.	ENSP00000374552	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389902	Transcript	.	.	ENSG00000011275	21698	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN216_HUMAN	RNF216	HGNC	C9JIV3_HUMAN	.	UPI000013F5B3	SNV	RNF216,splice_acceptor_variant,,ENST00000389902,;RNF216,splice_acceptor_variant,,ENST00000425013,;RNF216,splice_acceptor_variant,,ENST00000484458,;RNF216,splice_acceptor_variant,,ENST00000469375,;RNF216,splice_acceptor_variant,,ENST00000389900,;	.	92	86	SUCCESS
MFSD3	113655	.	GRCh37	8	145735131	145735131	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	37	0	ENST00000301327.4:c.415C>T	p.Gln139Ter	p.Q139*	ENST00000301327	NM_138431.1	139	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6431.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGCAGGTG	NONE	.	.	hmmpanther:PTHR12778,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000301327	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000301327	Transcript	.	.	ENSG00000167700	25157	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFSD3_HUMAN	MFSD3	HGNC	.	.	UPI0000072E5F	SNV	MFSD3,stop_gained,p.Gln139Ter,ENST00000301327,;GPT,downstream_gene_variant,,ENST00000528431,;GPT,downstream_gene_variant,,ENST00000394955,;RECQL4,downstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000428558,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.14,upstream_gene_variant,,ENST00000527086,;CTD-2517M22.17,upstream_gene_variant,,ENST00000580385,;RECQL4,downstream_gene_variant,,ENST00000532237,;RECQL4,downstream_gene_variant,,ENST00000531875,;RECQL4,downstream_gene_variant,,ENST00000529424,;RECQL4,downstream_gene_variant,,ENST00000532269,;MFSD3,non_coding_transcript_exon_variant,,ENST00000528047,;MFSD3,non_coding_transcript_exon_variant,,ENST00000526749,;GPT,downstream_gene_variant,,ENST00000527165,;RECQL4,downstream_gene_variant,,ENST00000301323,;GPT,downstream_gene_variant,,ENST00000354769,;GPT,downstream_gene_variant,,ENST00000531330,;CTD-2517M22.14,upstream_gene_variant,,ENST00000528690,;MFSD3,upstream_gene_variant,,ENST00000534427,;GPT,downstream_gene_variant,,ENST00000534702,;GPT,downstream_gene_variant,,ENST00000527961,;	675	37	56	SUCCESS
STAR	6770	.	GRCh37	8	38008314	38008314	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	50	0	ENST00000276449.4:c.23T>C	p.Leu8Pro	p.L8P	ENST00000276449	NM_000349.2	8	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6102.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACAGCTTG	NONE	.	.	hmmpanther:PTHR12136:SF9,hmmpanther:PTHR12136,Prints_domain:PR00978	.	.	ENSP00000276449	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000276449	Transcript	1	.	ENSG00000147465	11359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STAR_HUMAN	STAR	HGNC	Q6QNJ9_HUMAN,Q6IBK0_HUMAN,E5RH12_HUMAN	.	UPI000013DAC9	SNV	STAR,missense_variant,p.Leu8Pro,ENST00000276449,;STAR,upstream_gene_variant,,ENST00000521236,;STAR,upstream_gene_variant,,ENST00000522050,;RP11-90P5.2,intron_variant,,ENST00000520598,;STAR,non_coding_transcript_exon_variant,,ENST00000520114,;	470	50	18	SUCCESS
RAB2A	5862	.	GRCh37	8	61496802	61496802	+	synonymous_variant	Silent	SNP	G	G	T	rs535641144	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	37	133	0	ENST00000262646.7:c.222G>T	p.Ser74=	p.S74=	ENST00000262646	NM_002865.2	74	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6175.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGTATTA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF359,PROSITE_profiles:PS51419	.	.	ENSP00000262646	.	4/8	.	.	.	.	.	.	.	.	rs535641144	4/8	PASS	ENST00000262646	Transcript	.	.	ENSG00000104388	9763	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB2A_HUMAN	RAB2A	HGNC	.	.	UPI0000133168	SNV	RAB2A,synonymous_variant,p.%3D,ENST00000529579,;RAB2A,synonymous_variant,p.%3D,ENST00000531289,;RAB2A,synonymous_variant,p.%3D,ENST00000262646,;RAB2A,upstream_gene_variant,,ENST00000452437,;RAB2A,non_coding_transcript_exon_variant,,ENST00000530071,;RAB2A,missense_variant,p.Val91Leu,ENST00000466595,;RAB2A,3_prime_UTR_variant,,ENST00000534260,;RAB2A,non_coding_transcript_exon_variant,,ENST00000525529,;RAB2A,non_coding_transcript_exon_variant,,ENST00000429861,;	573	133	108	SUCCESS
ALAD	210	.	GRCh37	9	116152930	116152930	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778238328	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	37	0	ENST00000409155.3:c.424C>T	p.Arg142Trp	p.R142W	ENST00000409155	NM_000031.5	142	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6794.2	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGGAATG	NONE	.	.	hmmpanther:PTHR11458,hmmpanther:PTHR11458:SF0,Gene3D:3.20.20.70,Pfam_domain:PF00490,SMART_domains:SM01004,PIRSF_domain:PIRSF001415,Superfamily_domains:SSF51569	.	.	ENSP00000386284	.	6/12	.	.	.	.	.	.	.	.	rs778238328	6/12	PASS	ENST00000409155	Transcript	.	.	ENSG00000148218	395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0.01)	.	HEM2_HUMAN	ALAD	HGNC	.	.	UPI0000037431	SNV	ALAD,missense_variant,p.Arg125Trp,ENST00000277315,;ALAD,missense_variant,p.Arg142Trp,ENST00000409155,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000448137,;ALAD,downstream_gene_variant,,ENST00000445750,;ALAD,downstream_gene_variant,,ENST00000482001,;ALAD,non_coding_transcript_exon_variant,,ENST00000482847,;ALAD,non_coding_transcript_exon_variant,,ENST00000468504,;ALAD,non_coding_transcript_exon_variant,,ENST00000464749,;ALAD,downstream_gene_variant,,ENST00000494848,;	621	37	15	SUCCESS
SLC2A6	11182	.	GRCh37	9	136339125	136339125	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767052534	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	15	81	1	ENST00000371899.4:c.1013G>T	p.Arg338Leu	p.R338L	ENST00000371899	NM_017585.3	338	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS6975.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCGGCCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,PROSITE_patterns:PS00216,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000360966	.	7/10	.	.	.	.	.	.	.	.	rs767052534	7/10	PASS	ENST00000371899	Transcript	.	.	ENSG00000160326	11011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GTR6_HUMAN	SLC2A6	HGNC	.	.	UPI0000001BE8	SNV	SLC2A6,missense_variant,p.Arg338Leu,ENST00000371899,;SLC2A6,missense_variant,p.Arg338Leu,ENST00000371897,;SLC2A6,downstream_gene_variant,,ENST00000414172,;CACFD1,downstream_gene_variant,,ENST00000542192,;SLC2A6,downstream_gene_variant,,ENST00000432868,;CACFD1,downstream_gene_variant,,ENST00000316948,;CACFD1,downstream_gene_variant,,ENST00000291722,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;	1091	82	22	SUCCESS
CREB3	10488	.	GRCh37	9	35732606	35732606	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	9	9	0	ENST00000353704.2:c.-164G>C		p.*55*	ENST00000353704	NM_006368.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6588.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	ATTGAGCCTGG	NONE	.	.	.	.	.	ENSP00000342136	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000353704	Transcript	.	.	ENSG00000107175	2347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CREB3_HUMAN	CREB3	HGNC	B4DSK1_HUMAN	.	UPI0000073728	SNV	CREB3,5_prime_UTR_variant,,ENST00000353704,;GBA2,downstream_gene_variant,,ENST00000378088,;GBA2,downstream_gene_variant,,ENST00000378094,;TLN1,upstream_gene_variant,,ENST00000540444,;TLN1,upstream_gene_variant,,ENST00000314888,;GBA2,downstream_gene_variant,,ENST00000378103,;GBA2,downstream_gene_variant,,ENST00000545786,;CREB3,non_coding_transcript_exon_variant,,ENST00000486056,;TLN1,upstream_gene_variant,,ENST00000378192,;	275	9	13	SUCCESS
S1PR3	1903	.	GRCh37	9	91616620	91616620	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778344408	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	36	78	0	ENST00000358157.2:c.505G>T	p.Gly169Cys	p.G169C	ENST00000358157	NM_005226.3	169	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS6680.1	505	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGGCGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF24,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	rs778344408	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,missense_variant,p.Gly169Cys,ENST00000358157,;S1PR3,missense_variant,p.Gly169Cys,ENST00000375846,;	5200	78	47	SUCCESS
MTM1	4534	.	GRCh37	X	149814213	149814213	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781984239	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	98	158	0	ENST00000370396.2:c.736C>T	p.Leu246Phe	p.L246F	ENST00000370396	NM_000252.2	246	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14694.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCTTGTC	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF62,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000359423	.	9/15	.	.	.	.	.	.	.	.	rs781984239	9/15	PASS	ENST00000370396	Transcript	.	.	ENSG00000171100	7448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	MTM1_HUMAN	MTM1	HGNC	B7Z499_HUMAN	.	UPI000012F7F5	SNV	MTM1,missense_variant,p.Leu151Phe,ENST00000542741,;MTM1,missense_variant,p.Leu131Phe,ENST00000543350,;MTM1,missense_variant,p.Leu246Phe,ENST00000370396,;MTM1,missense_variant,p.Leu209Phe,ENST00000413012,;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;MTM1,non_coding_transcript_exon_variant,,ENST00000490530,;	790	158	112	SUCCESS
FAM104B	90736	.	GRCh37	X	55172691	55172691	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	47	0	ENST00000358460.4:c.174A>G	p.Arg58=	p.R58=	ENST00000358460		58	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS55425.1	177	RADIA|VARSCANS	.	CTTGCTCTCTC	NONE	.	.	Pfam_domain:PF15434	.	.	ENSP00000397188	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000425133	Transcript	.	.	ENSG00000182518	25085	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F104B_HUMAN	FAM104B	HGNC	.	.	UPI0000D7A492	SNV	FAM104B,synonymous_variant,p.%3D,ENST00000489298,;FAM104B,synonymous_variant,p.%3D,ENST00000358460,;FAM104B,synonymous_variant,p.%3D,ENST00000332132,;FAM104B,synonymous_variant,p.%3D,ENST00000477847,;FAM104B,synonymous_variant,p.%3D,ENST00000425133,;FAM104B,3_prime_UTR_variant,,ENST00000472571,;FAM104B,downstream_gene_variant,,ENST00000478918,;	216	47	36	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4925135	4925135	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	10	252	0	ENST00000400457.2:c.208A>T	p.Thr70Ser	p.T70S	ENST00000400457	NM_032973.2	70	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS14777.1	271	MUTECT|MUSE	.	TGACAACTACT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08266	.	.	ENSP00000355419	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Thr91Ser,ENST00000215473,;PCDH11Y,missense_variant,p.Thr80Ser,ENST00000333703,;PCDH11Y,missense_variant,p.Thr70Ser,ENST00000400457,;PCDH11Y,missense_variant,p.Thr91Ser,ENST00000362095,;	1005	252	210	SUCCESS
MUC2	4583	.	GRCh37	11	1096485	1096485	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs761619089	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	60	0	ENST00000441003.2:c.6511del	p.Val2171CysfsTer17	p.V2171Cfs*17	ENST00000441003	NM_002457.2	2170	aaG/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	.	6510	INDELOCATOR*|VARSCANI*|PINDEL	.	CGACAAGGTGTC	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	34/49	.	.	.	.	.	.	.	.	rs761619089	34/49	nonpreferredpair	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	deletion	MUC2,frameshift_variant,p.Val309CysfsTer17,ENST00000361558,;MUC2,frameshift_variant,p.Val2171CysfsTer17,ENST00000441003,;MUC2,downstream_gene_variant,,ENST00000333592,;MUC2,downstream_gene_variant,,ENST00000359061,;	6537	60	59	SUCCESS
SOX6	55553	.	GRCh37	11	15994640	15994640	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	54	180	0	ENST00000528429.1:c.2202A>T	p.Pro734=	p.P734=	ENST00000528429	NM_001145819.1	734	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7821.1	2142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATTGGAAT	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89	.	.	ENSP00000379644	.	16/16	.	.	.	.	.	.	.	.	.	16/16	nonpreferredpair	ENST00000396356	Transcript	.	.	ENSG00000110693	16421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX6_HUMAN	SOX6	HGNC	E9PQL4_HUMAN,E9PQ67_HUMAN,E9PN02_HUMAN	.	UPI00001F9DE4	SNV	SOX6,synonymous_variant,p.%3D,ENST00000527619,;SOX6,synonymous_variant,p.%3D,ENST00000528429,;SOX6,synonymous_variant,p.%3D,ENST00000352083,;SOX6,synonymous_variant,p.%3D,ENST00000528252,;SOX6,synonymous_variant,p.%3D,ENST00000396356,;SOX6,synonymous_variant,p.%3D,ENST00000316399,;	2220	180	115	SUCCESS
SYT8	90019	.	GRCh37	11	1856575	1856575	+	synonymous_variant	Silent	SNP	C	C	A	rs556491023	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	25	0	ENST00000381968.3:c.186C>A	p.Leu62=	p.L62=	ENST00000381968	NM_138567.3	62	ctC/ctA	0	.	T:0	.	T:0	.	A	L	protein_coding	YES	CCDS7726.2	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCGTCTC	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10024:SF36,hmmpanther:PTHR10024	T:0.001	.	ENSP00000371394	T:0	3/9	.	.	.	.	.	.	.	.	rs556491023	3/9	nonpreferredpair	ENST00000381968	Transcript	.	T:0.0002	ENSG00000149043	19264	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SYT8_HUMAN	SYT8	HGNC	C9K032_HUMAN,C9J253_HUMAN,A6NCR4_HUMAN	.	UPI000066D8CE	SNV	SYT8,synonymous_variant,p.%3D,ENST00000430303,;SYT8,synonymous_variant,p.%3D,ENST00000417052,;SYT8,synonymous_variant,p.%3D,ENST00000381968,;SYT8,synonymous_variant,p.%3D,ENST00000535046,;SYT8,synonymous_variant,p.%3D,ENST00000436964,;SYT8,synonymous_variant,p.%3D,ENST00000341958,;SYT8,synonymous_variant,p.%3D,ENST00000381978,;TNNI2,upstream_gene_variant,,ENST00000381911,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381905,;TNNI2,upstream_gene_variant,,ENST00000381906,;SYT8,upstream_gene_variant,,ENST00000483280,;SYT8,stop_gained,p.Ser54Ter,ENST00000424556,;SYT8,non_coding_transcript_exon_variant,,ENST00000475245,;SYT8,non_coding_transcript_exon_variant,,ENST00000479276,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,non_coding_transcript_exon_variant,,ENST00000482118,;SYT8,non_coding_transcript_exon_variant,,ENST00000464897,;SYT8,non_coding_transcript_exon_variant,,ENST00000479089,;SYT8,upstream_gene_variant,,ENST00000494431,;TNNI2,upstream_gene_variant,,ENST00000468473,;	314	25	30	SUCCESS
SSRP1	6749	.	GRCh37	11	57100232	57100232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	113	0	ENST00000278412.2:c.635G>A	p.Gly212Asp	p.G212D	ENST00000278412	NM_003146.2	212	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7952.1	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGACCACGA	NONE	.	.	hmmpanther:PTHR13711:SF2,hmmpanther:PTHR13711,Pfam_domain:PF03531,Superfamily_domains:SSF50729,Prints_domain:PR00887	.	.	ENSP00000278412	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000278412	Transcript	.	.	ENSG00000149136	11327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SSRP1_HUMAN	SSRP1	HGNC	E9PPZ7_HUMAN,E9PMD4_HUMAN	.	UPI000013601D	SNV	SSRP1,missense_variant,p.Gly115Asp,ENST00000526696,;SSRP1,missense_variant,p.Gly212Asp,ENST00000278412,;SSRP1,missense_variant,p.Gly115Asp,ENST00000529002,;snoU13,upstream_gene_variant,,ENST00000459327,;RP11-872D17.4,downstream_gene_variant,,ENST00000534162,;SSRP1,non_coding_transcript_exon_variant,,ENST00000293880,;	902	113	77	SUCCESS
MORN3	283385	.	GRCh37	12	122097220	122097220	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	191	0	ENST00000355329.3:c.180C>T	p.Ala60=	p.A60=	ENST00000355329	NM_173855.4	60	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31917.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATGGCTCC	NONE	.	.	hmmpanther:PTHR23084,Gene3D:1h3iA01,SMART_domains:SM00698,Superfamily_domains:0038399	.	.	ENSP00000347486	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000355329	Transcript	.	.	ENSG00000139714	29807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MORN3_HUMAN	MORN3	HGNC	.	.	UPI00000558DC	SNV	MORN3,synonymous_variant,p.%3D,ENST00000355329,;MORN3,synonymous_variant,p.%3D,ENST00000542364,;MORN3,synonymous_variant,p.%3D,ENST00000392462,;	351	191	90	SUCCESS
OVCH1	341350	.	GRCh37	12	29597095	29597095	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	116	0	ENST00000318184.5:c.3000T>C	p.Ser1000=	p.S1000=	ENST00000318184	NM_183378.2	1000	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	.	3000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGAGAATT	NONE	.	.	hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Gene3D:2.60.120.290,Superfamily_domains:SSF49854	.	.	ENSP00000326708	.	24/28	.	.	.	.	.	.	.	.	.	24/28	nonpreferredpair	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,synonymous_variant,p.%3D,ENST00000318184,;OVCH1,synonymous_variant,p.%3D,ENST00000537054,;OVCH1-AS1,intron_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1,synonymous_variant,p.%3D,ENST00000539117,;	3000	116	69	SUCCESS
KIF21A	55605	.	GRCh37	12	39688230	39688230	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	297	1	ENST00000361418.5:c.5021A>G	p.Asn1674Ser	p.N1674S	ENST00000361418		1674	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS53776.1	5021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATTACTG	NONE	.	.	.	.	.	ENSP00000354878	.	38/38	.	.	.	.	.	.	.	.	.	38/38	nonpreferredpair	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.08)	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,missense_variant,p.Asn1621Ser,ENST00000541463,;KIF21A,missense_variant,p.Asn1661Ser,ENST00000361961,;KIF21A,missense_variant,p.Asn975Ser,ENST00000552961,;KIF21A,missense_variant,p.Asn1674Ser,ENST00000361418,;KIF21A,missense_variant,p.Asn655Ser,ENST00000551264,;KIF21A,missense_variant,p.Asn1637Ser,ENST00000544797,;KIF21A,missense_variant,p.Asn1675Ser,ENST00000395670,;KIF21A,non_coding_transcript_exon_variant,,ENST00000547733,;	5037	298	101	SUCCESS
NACA	4666	.	GRCh37	12	57111880	57111880	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	118	0	ENST00000356769.3:c.71-3409C>T		p.*24*	ENST00000356769	NM_001113202.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44925.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTGGGGGT	NONE	.	.	.	.	.	ENSP00000448035	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,missense_variant,p.Pro1145Leu,ENST00000454682,;NACA,intron_variant,,ENST00000546862,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000356769,;NACA,intron_variant,,ENST00000550952,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000550920,;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551793,;NACA,upstream_gene_variant,,ENST00000550343,;NACA,upstream_gene_variant,,ENST00000548386,;NACA,intron_variant,,ENST00000548084,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000551520,;NACA,upstream_gene_variant,,ENST00000546410,;	.	118	24	SUCCESS
PHB2	11331	.	GRCh37	12	7078680	7078680	+	synonymous_variant	Silent	SNP	G	G	A	rs782246503	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	105	0	ENST00000535923.1:c.273C>T	p.Ser91=	p.S91=	ENST00000535923	NM_001144831.1	91	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53741.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGGAGAT	NONE	.	.	hmmpanther:PTHR23222,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593,Prints_domain:PR00679	.	.	ENSP00000441875	.	3/10	.	.	.	.	.	.	.	.	rs782246503	3/10	nonpreferredpair	ENST00000535923	Transcript	.	.	ENSG00000215021	30306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHB2_HUMAN	PHB2	HGNC	Q9BXV3_HUMAN	.	UPI00000292BE	SNV	PHB2,synonymous_variant,p.%3D,ENST00000545167,;PHB2,synonymous_variant,p.%3D,ENST00000535923,;PHB2,synonymous_variant,p.%3D,ENST00000399433,;PHB2,synonymous_variant,p.%3D,ENST00000542912,;PHB2,synonymous_variant,p.%3D,ENST00000440277,;PHB2,intron_variant,,ENST00000546111,;PHB2,intron_variant,,ENST00000536316,;EMG1,upstream_gene_variant,,ENST00000261406,;PHB2,upstream_gene_variant,,ENST00000545555,;SCARNA12,upstream_gene_variant,,ENST00000459155,;U47924.29,downstream_gene_variant,,ENST00000606539,;PHB2,non_coding_transcript_exon_variant,,ENST00000544134,;EMG1,intron_variant,,ENST00000607161,;EMG1,upstream_gene_variant,,ENST00000541016,;EMG1,upstream_gene_variant,,ENST00000564245,;EMG1,upstream_gene_variant,,ENST00000539196,;EMG1,upstream_gene_variant,,ENST00000546220,;EMG1,upstream_gene_variant,,ENST00000539535,;PHB2,synonymous_variant,p.%3D,ENST00000544888,;PHB2,non_coding_transcript_exon_variant,,ENST00000546217,;PHB2,non_coding_transcript_exon_variant,,ENST00000543465,;EMG1,upstream_gene_variant,,ENST00000451846,;EMG1,upstream_gene_variant,,ENST00000539440,;PHB2,downstream_gene_variant,,ENST00000542294,;PHB2,upstream_gene_variant,,ENST00000537646,;	555	105	57	SUCCESS
TSC22D1	8848	.	GRCh37	13	45147977	45147977	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs983987034	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	111	0	ENST00000458659.2:c.2234C>T	p.Pro745Leu	p.P745L	ENST00000458659	NM_183422.3	745	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31966.1	2234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGGGCTGC	NONE	.	.	hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17	.	.	ENSP00000397435	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000458659	Transcript	.	.	ENSG00000102804	16826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	deleterious(0)	.	T22D1_HUMAN	TSC22D1	HGNC	C9IZ15_HUMAN	.	UPI0000D61A6B	SNV	TSC22D1,missense_variant,p.Pro745Leu,ENST00000458659,;TSC22D1,intron_variant,,ENST00000501704,;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,;	2725	111	84	SUCCESS
FANCM	57697	.	GRCh37	14	45658561	45658561	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	99	0	ENST00000267430.5:c.5336A>G	p.Gln1779Arg	p.Q1779R	ENST00000267430	NM_020937.2	1779	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS32070.1	5336	MUTECT|MUSE	.	TCCACAGAAGG	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	.	20/23	nonpreferredpair	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.041)	.	tolerated(0.46)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Gln712Arg,ENST00000554809,;FANCM,missense_variant,p.Gln1753Arg,ENST00000542564,;FANCM,missense_variant,p.Gln1295Arg,ENST00000556250,;FANCM,missense_variant,p.Gln1779Arg,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	5421	99	69	SUCCESS
CEP128	145508	.	GRCh37	14	80971304	80971304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	71	0	ENST00000281129.3:c.3132G>T	p.Trp1044Cys	p.W1044C	ENST00000281129	NM_152446.3	1044	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS32130.1	3132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCAAGA	NONE	.	.	hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	.	.	ENSP00000451162	.	24/25	.	.	.	.	.	.	.	.	.	24/25	nonpreferredpair	ENST00000555265	Transcript	.	.	ENSG00000100629	20359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.05)	.	CE128_HUMAN	CEP128	HGNC	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN	.	UPI000022982E	SNV	CEP128,missense_variant,p.Trp1044Cys,ENST00000555265,;CEP128,missense_variant,p.Trp110Cys,ENST00000556061,;CEP128,missense_variant,p.Trp1044Cys,ENST00000281129,;CEP128,non_coding_transcript_exon_variant,,ENST00000553717,;CEP128,3_prime_UTR_variant,,ENST00000554502,;	3508	71	21	SUCCESS
HERC1	8925	.	GRCh37	15	63932493	63932493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	148	0	ENST00000443617.2:c.11759A>G	p.Asn3920Ser	p.N3920S	ENST00000443617	NM_003922.3	3920	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45277.1	11759	MUTECT|MUSE|VARSCANS	.	TTGGATTCCAG	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	61/78	.	.	.	.	.	.	.	.	.	61/78	nonpreferredpair	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Asn3920Ser,ENST00000443617,;HERC1,upstream_gene_variant,,ENST00000560897,;	11847	148	73	SUCCESS
HERC1	8925	.	GRCh37	15	64021693	64021693	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	196	0	ENST00000443617.2:c.3021+3A>T		p.X1007_splice	ENST00000443617	NM_003922.3	1007		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45277.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCATACCTC	NONE	.	.	.	.	.	ENSP00000390158	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	LOW	15/77	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,splice_region_variant,,ENST00000443617,;HERC1,intron_variant,,ENST00000561400,;	.	196	124	SUCCESS
SALL1	6299	.	GRCh37	16	51171120	51171120	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749740744	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	25	151	0	ENST00000251020.4:c.3878C>T	p.Pro1293Leu	p.P1293L	ENST00000251020	NM_002968.2	1293	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10747.1	3878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGGAGCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	3/3	.	.	.	.	.	.	.	.	rs749740744	3/3	nonpreferredpair	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Pro116Leu,ENST00000541611,;SALL1,missense_variant,p.Pro1293Leu,ENST00000251020,;SALL1,missense_variant,p.Pro1196Leu,ENST00000440970,;SALL1,3_prime_UTR_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000570206,;	3912	151	37	SUCCESS
SREBF1	6720	.	GRCh37	17	17719328	17719328	+	synonymous_variant	Silent	SNP	G	G	A	rs1326222654	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	99	0	ENST00000261646.5:c.2229C>T	p.Ser743=	p.S743=	ENST00000261646	NM_004176.4	743	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32583.1	2319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGCTCAG	NONE	.	.	hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	13/20	.	.	.	.	.	.	.	.	.	13/20	nonpreferredpair	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,synonymous_variant,p.%3D,ENST00000338854,;SREBF1,synonymous_variant,p.%3D,ENST00000395757,;SREBF1,synonymous_variant,p.%3D,ENST00000355815,;SREBF1,synonymous_variant,p.%3D,ENST00000261646,;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,upstream_gene_variant,,ENST00000478616,;RAI1,downstream_gene_variant,,ENST00000353383,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,downstream_gene_variant,,ENST00000435530,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000490796,;SREBF1,non_coding_transcript_exon_variant,,ENST00000447641,;SREBF1,non_coding_transcript_exon_variant,,ENST00000584760,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000470247,;	2489	99	51	SUCCESS
C17orf75	64149	.	GRCh37	17	30669160	30669160	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs777098859	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	35	0	ENST00000577809.1:c.-2C>T		p.*1*	ENST00000577809	NM_022344.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58537.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCATTGCGGCG	NONE	.	.	.	.	.	ENSP00000464275	.	1/10	.	.	.	.	.	.	.	.	rs777098859	1/10	nonpreferredpair	ENST00000577809	Transcript	.	.	ENSG00000108666	30173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NJMU_HUMAN	C17orf75	HGNC	Q8NI83_HUMAN,K7ERX0_HUMAN,K7EIQ2_HUMAN,K7EII1_HUMAN,J3KRR1_HUMAN	.	UPI00001AE577	SNV	C17orf75,5_prime_UTR_variant,,ENST00000577809,;C17orf75,5_prime_UTR_variant,,ENST00000225805,;C17orf75,intron_variant,,ENST00000583774,;C17orf75,upstream_gene_variant,,ENST00000580558,;C17orf75,upstream_gene_variant,,ENST00000583334,;C17orf75,upstream_gene_variant,,ENST00000581747,;RP11-227G15.3,intron_variant,,ENST00000578389,;RP11-227G15.3,intron_variant,,ENST00000581915,;C17orf75,5_prime_UTR_variant,,ENST00000583221,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580485,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580294,;C17orf75,intron_variant,,ENST00000582073,;C17orf75,upstream_gene_variant,,ENST00000578215,;OOSP1P2,downstream_gene_variant,,ENST00000579644,;	49	35	13	SUCCESS
MIS12	79003	.	GRCh37	17	5392627	5392627	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	182	0	ENST00000381165.3:c.445C>T	p.Gln149Ter	p.Q149*	ENST00000381165	NM_024039.2	149	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11074.1	445	MUTECT|MUSE|VARSCANS	.	TTGTTCAGGCC	NONE	.	.	Pfam_domain:PF05859,hmmpanther:PTHR14527	.	.	ENSP00000370557	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000381165	Transcript	.	.	ENSG00000167842	24967	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIS12_HUMAN	MIS12	HGNC	I3L4K6_HUMAN,I3L244_HUMAN	.	UPI0000037DAC	SNV	MIS12,stop_gained,p.Gln149Ter,ENST00000573759,;MIS12,stop_gained,p.Gln149Ter,ENST00000381165,;DERL2,upstream_gene_variant,,ENST00000572834,;DERL2,upstream_gene_variant,,ENST00000570848,;DERL2,upstream_gene_variant,,ENST00000571971,;MIS12,downstream_gene_variant,,ENST00000576988,;DERL2,upstream_gene_variant,,ENST00000158771,;MIS12,downstream_gene_variant,,ENST00000576570,;MIS12,downstream_gene_variant,,ENST00000574186,;DERL2,upstream_gene_variant,,ENST00000571968,;DERL2,upstream_gene_variant,,ENST00000571476,;DERL2,upstream_gene_variant,,ENST00000575209,;DERL2,upstream_gene_variant,,ENST00000573637,;DERL2,upstream_gene_variant,,ENST00000574700,;DERL2,upstream_gene_variant,,ENST00000576551,;DERL2,upstream_gene_variant,,ENST00000574952,;	998	182	95	SUCCESS
VEZF1	7716	.	GRCh37	17	56052168	56052168	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	71	311	0	ENST00000581208.1:c.1232C>G	p.Thr411Ser	p.T411S	ENST00000581208	NM_007146.2	411	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS32687.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAGTCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389:SF319,hmmpanther:PTHR11389	.	.	ENSP00000462337	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000581208	Transcript	.	.	ENSG00000136451	12949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.57)	.	VEZF1_HUMAN	VEZF1	HGNC	.	.	UPI000013D01B	SNV	VEZF1,missense_variant,p.Thr411Ser,ENST00000581208,;VEZF1,missense_variant,p.Thr230Ser,ENST00000258963,;VEZF1,missense_variant,p.Thr402Ser,ENST00000584396,;	1273	311	168	SUCCESS
CLTC	1213	.	GRCh37	17	57738828	57738828	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	133	0	ENST00000269122.3:c.1192A>G	p.Ile398Val	p.I398V	ENST00000269122	NM_004859.3	398	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32696.1	1192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTATCCGT	NONE	.	.	hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Pfam_domain:PF13838,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	8/32	.	.	.	.	.	.	.	.	.	8/32	nonpreferredpair	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.13)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Ile398Val,ENST00000269122,;CLTC,missense_variant,p.Ile398Val,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,3_prime_UTR_variant,,ENST00000483176,;CLTC,upstream_gene_variant,,ENST00000466513,;	1466	133	76	SUCCESS
CCDC40	55036	.	GRCh37	17	78011929	78011929	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	99	0	ENST00000397545.4:c.37C>T	p.Pro13Ser	p.P13S	ENST00000397545	NM_017950.3	13	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42395.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCCGGAA	NONE	.	.	.	.	.	ENSP00000380679	.	2/20	.	.	.	.	.	.	.	.	.	2/20	nonpreferredpair	ENST00000397545	Transcript	.	.	ENSG00000141519	26090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated_low_confidence(0.2)	.	CCD40_HUMAN	CCDC40	HGNC	I3L2X6_HUMAN,I3L292_HUMAN	.	UPI0000201739	SNV	CCDC40,missense_variant,p.Pro13Ser,ENST00000397545,;CCDC40,missense_variant,p.Pro13Ser,ENST00000374876,;CCDC40,missense_variant,p.Pro13Ser,ENST00000269318,;CCDC40,missense_variant,p.Pro13Ser,ENST00000374877,;CCDC40,5_prime_UTR_variant,,ENST00000574099,;CCDC40,5_prime_UTR_variant,,ENST00000576033,;TBC1D16,upstream_gene_variant,,ENST00000310924,;CCDC40,intron_variant,,ENST00000572270,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572083,;CCDC40,non_coding_transcript_exon_variant,,ENST00000576241,;CCDC40,upstream_gene_variant,,ENST00000573474,;	64	99	69	SUCCESS
RGL3	57139	.	GRCh37	19	11517408	11517408	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	58	0	ENST00000380456.3:c.770T>A	p.Leu257His	p.L257H	ENST00000380456	NM_001035223.2	257	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS54221.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGAGGGTC	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF181,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000377075	.	6/19	.	.	.	.	.	.	.	.	.	6/19	nonpreferredpair	ENST00000393423	Transcript	.	.	ENSG00000205517	30282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGL3_HUMAN	RGL3	HGNC	.	.	UPI0001A5C4AD	SNV	RGL3,missense_variant,p.Leu257His,ENST00000380456,;RGL3,missense_variant,p.Leu257His,ENST00000393423,;Y_RNA,upstream_gene_variant,,ENST00000365487,;RGL3,3_prime_UTR_variant,,ENST00000563726,;RGL3,3_prime_UTR_variant,,ENST00000562663,;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,;RGL3,non_coding_transcript_exon_variant,,ENST00000453604,;RGL3,non_coding_transcript_exon_variant,,ENST00000565895,;RGL3,downstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000589032,;RGL3,downstream_gene_variant,,ENST00000561687,;	820	58	29	SUCCESS
STK11	6794	.	GRCh37	19	1221320	1221320	+	synonymous_variant	Silent	SNP	G	G	A	rs756095270	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	35	0	ENST00000326873.7:c.843G>A	p.Pro281=	p.P281=	ENST00000326873	NM_000455.4	281	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45896.1	843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCTCTC	CODON|p.0?|c.1_1302del1302|16,BUFFER|p.P281fs*6|c.842delC|6,BUFFER|p.L282fs*3|c.842_843insC|3,BUFFER|p.P281L|c.842C>T|11	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF1,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000324856	.	6/10	.	.	.	.	.	.	.	.	rs756095270,CD982962,KinMutBase_STK11_DNA:g.15408delG	6/10	nonpreferredpair	ENST00000326873	Transcript	1	.	ENSG00000118046	11389	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,0	.	.	.	.	.	.	STK11_HUMAN	STK11	HGNC	Q9NS52_HUMAN	.	UPI0000136105	SNV	STK11,synonymous_variant,p.%3D,ENST00000326873,;STK11,synonymous_variant,p.%3D,ENST00000586243,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,3_prime_UTR_variant,,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,upstream_gene_variant,,ENST00000585465,;	2016	35	39	SUCCESS
MAST1	22983	.	GRCh37	19	12975699	12975699	+	synonymous_variant	Silent	SNP	G	G	T	rs750816789	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	158	0	ENST00000251472.4:c.1443G>T	p.Thr481=	p.T481=	ENST00000251472	NM_014975.2	481	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32921.1	1443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGGTGCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150,PROSITE_profiles:PS50011	.	.	ENSP00000251472	.	13/26	.	.	.	.	.	.	.	.	rs750816789	13/26	nonpreferredpair	ENST00000251472	Transcript	.	.	ENSG00000105613	19034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAST1_HUMAN	MAST1	HGNC	.	.	UPI000004A042	SNV	MAST1,synonymous_variant,p.%3D,ENST00000251472,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000589040,;MAST1,upstream_gene_variant,,ENST00000590553,;	1482	158	50	SUCCESS
BRD4	23476	.	GRCh37	19	15350762	15350762	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	115	0	ENST00000263377.2:c.3241C>T	p.His1081Tyr	p.H1081Y	ENST00000263377	NM_058243.2	1081	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS12328.1	3241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGGGTCA	NONE	.	.	.	.	.	ENSP00000263377	.	15/20	.	.	.	.	.	.	.	.	.	15/20	nonpreferredpair	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,missense_variant,p.His1081Tyr,ENST00000263377,;AC004257.3,upstream_gene_variant,,ENST00000602793,;BRD4,downstream_gene_variant,,ENST00000594066,;	3463	115	85	SUCCESS
ZNF676	163223	.	GRCh37	19	22364225	22364225	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	68	547	0	ENST00000397121.2:c.294del	p.Tyr98Ter	p.Y98*	ENST00000397121	NM_001001411.2	98	taT/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS42539.1	294	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTATTATAACC	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	deletion	ZNF676,frameshift_variant,p.Tyr98Ter,ENST00000397121,;	612	547	223	SUCCESS
ZNF302	55900	.	GRCh37	19	35174079	35174079	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	165	0	ENST00000505242.1:c.150A>G	p.Pro50=	p.P50=	ENST00000505242		50	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46042.1	150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCATATGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000421028	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000505242	Transcript	.	.	ENSG00000089335	13848	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN302_HUMAN	ZNF302	HGNC	Q7Z4B9_HUMAN,D6RAM0_HUMAN	.	UPI0000001668	SNV	ZNF302,synonymous_variant,p.%3D,ENST00000506901,;ZNF302,synonymous_variant,p.%3D,ENST00000505163,;ZNF302,synonymous_variant,p.%3D,ENST00000457781,;ZNF302,synonymous_variant,p.%3D,ENST00000507959,;ZNF302,synonymous_variant,p.%3D,ENST00000423823,;ZNF302,synonymous_variant,p.%3D,ENST00000446502,;ZNF302,synonymous_variant,p.%3D,ENST00000505242,;ZNF302,synonymous_variant,p.%3D,ENST00000502743,;ZNF302,synonymous_variant,p.%3D,ENST00000505365,;ZNF302,intron_variant,,ENST00000509528,;ZNF302,non_coding_transcript_exon_variant,,ENST00000509196,;ZNF302,downstream_gene_variant,,ENST00000512455,;ZNF302,downstream_gene_variant,,ENST00000510002,;	644	165	101	SUCCESS
KMT2B	9757	.	GRCh37	19	36211168	36211168	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs540162147	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	62	0	ENST00000222270.7:c.919T>C	p.Phe307Leu	p.F307L	ENST00000222270	NM_014727.1	307	Ttt/Ctt	0	.	C:0	.	C:0	.	C	F/L	protein_coding	YES	CCDS46055.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGTTTGTT	NONE	by1000G	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	C:0	.	ENSP00000222270	C:0	3/37	.	.	.	.	.	.	.	.	rs540162147	3/37	nonpreferredpair	ENST00000222270	Transcript	.	C:0.0002	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0.001	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Phe307Leu,ENST00000222270,;KMT2B,missense_variant,p.Phe307Leu,ENST00000341701,;KMT2B,missense_variant,p.Phe307Leu,ENST00000420124,;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,non_coding_transcript_exon_variant,,ENST00000606995,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	919	62	61	SUCCESS
C3	718	.	GRCh37	19	6682236	6682236	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs148227405	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	122	0	ENST00000245907.6:c.4177C>G	p.Arg1393Gly	p.R1393G	ENST00000245907	NM_000064.2	1393	Cgg/Ggg	0	A:0	.	.	.	.	C	R/G	protein_coding	YES	CCDS32883.1	4177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGGTACC	NONE	byCluster	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Gene3D:1ayoA00,Superfamily_domains:SSF49410	.	A:0.0001	ENSP00000245907	.	34/41	.	.	.	.	.	.	.	.	rs148227405	34/41	nonpreferredpair	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Arg100Gly,ENST00000596548,;C3,missense_variant,p.Arg1393Gly,ENST00000245907,;C3,intron_variant,,ENST00000601008,;C3,upstream_gene_variant,,ENST00000602229,;C3,upstream_gene_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;C3,upstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000596179,;C3,downstream_gene_variant,,ENST00000596238,;	4270	122	52	SUCCESS
RP11-417J8.6	0	.	GRCh37	1	142634933	142634933	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs528262386	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000610091.1:n.5602C>T		p.*1868*	ENST00000610091				0	.	A:0.0121	.	A:0	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GCACGGTGGTT	NONE	byFrequency|by1000G	.	.	A:0	.	.	A:0	12/14	.	.	.	.	.	.	.	.	rs528262386	12/14	nonpreferredpair	ENST00000610091	Transcript	.	A:0.0032	ENSG00000203849	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	.	RP11-417J8.6	Clone_based_vega_gene	.	.	.	SNV	RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000369381,;RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000610091,;RP11-417J8.3,intron_variant,,ENST00000411746,;RP11-417J8.3,intron_variant,,ENST00000426408,;RP11-417J8.3,intron_variant,,ENST00000400755,;RP11-417J8.3,intron_variant,,ENST00000446205,;	5602	11	9	SUCCESS
KAZN	23254	.	GRCh37	1	14925544	14925544	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765773337	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	41	99	0	ENST00000376030.2:c.51G>C	p.Gln17His	p.Q17H	ENST00000376030	NM_201628.2	17	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS152.2	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGTCGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12776	.	.	ENSP00000365198	.	1/15	.	.	.	.	.	.	.	.	rs765773337	1/15	nonpreferredpair	ENST00000376030	Transcript	.	.	ENSG00000189337	29173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	KAZRN_HUMAN	KAZN	HGNC	B4DEV2_HUMAN,B0QYQ6_HUMAN	.	UPI0000E1E68A	SNV	KAZN,missense_variant,p.Gln17His,ENST00000376030,;KAZN,missense_variant,p.Gln17His,ENST00000422387,;KAZN,missense_variant,p.Gln17His,ENST00000503743,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;	345	99	56	SUCCESS
TTC24	164118	.	GRCh37	1	156552954	156552954	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780019772	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	61	254	0	ENST00000368236.3:c.1031G>T	p.Arg344Leu	p.R344L	ENST00000368236	NM_001105669.2	344	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS53379.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGGGACT	NONE	byFrequency	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13424,Gene3D:1.25.40.10,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF98,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000357219	.	4/11	.	.	.	.	.	.	.	.	rs780019772	4/11	nonpreferredpair	ENST00000368236	Transcript	.	.	ENSG00000187862	32348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0.01)	.	TTC24_HUMAN	TTC24	HGNC	.	.	UPI0000418EC1	SNV	TTC24,missense_variant,p.Arg344Leu,ENST00000368236,;TTC24,missense_variant,p.Arg344Leu,ENST00000368237,;AL365181.1,downstream_gene_variant,,ENST00000581084,;TTC24,non_coding_transcript_exon_variant,,ENST00000413282,;TTC24,non_coding_transcript_exon_variant,,ENST00000495690,;TTC24,intron_variant,,ENST00000478081,;TTC24,upstream_gene_variant,,ENST00000462049,;	1067	254	227	SUCCESS
VANGL2	57216	.	GRCh37	1	160388964	160388964	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1182443634	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	39	0	ENST00000368061.2:c.365C>T	p.Thr122Met	p.T122M	ENST00000368061	NM_020335.2	122	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS30915.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACGCCTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10,Pfam_domain:PF06638,PIRSF_domain:PIRSF007991	.	.	ENSP00000357040	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000368061	Transcript	.	.	ENSG00000162738	15511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	VANG2_HUMAN	VANGL2	HGNC	.	.	UPI00001C1D79	SNV	VANGL2,missense_variant,p.Thr122Met,ENST00000368061,;VANGL2,upstream_gene_variant,,ENST00000483408,;	839	39	58	SUCCESS
C1orf226	400793	.	GRCh37	1	162353415	162353415	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1226576898	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	34	0	ENST00000458626.2:c.761C>T	p.Ala254Val	p.A254V	ENST00000458626	NM_001085375.1	254	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44268.1	890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCACGGA	NONE	.	.	Pfam_domain:PF15429	.	.	ENSP00000413150	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000426197	Transcript	.	.	ENSG00000239887	34351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	tolerated(0.05)	.	CA226_HUMAN	C1orf226	HGNC	F8W6W0_HUMAN	.	UPI00006C02B3	SNV	C1orf226,missense_variant,p.Ala254Val,ENST00000458626,;C1orf226,missense_variant,p.Ala297Val,ENST00000426197,;RP11-565P22.6,downstream_gene_variant,,ENST00000431696,;C1orf226,downstream_gene_variant,,ENST00000420220,;NOS1AP,downstream_gene_variant,,ENST00000367932,;	963	34	40	SUCCESS
DUSP27	0	.	GRCh37	1	167095694	167095694	+	synonymous_variant	Silent	SNP	C	C	T	rs756297966	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	24	1	ENST00000361200.2:c.1326C>T	p.Ser442=	p.S442=	ENST00000361200		442	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30932.1	1326	SOMATICSNIPER|VARSCANS	.	GAGAGCGTGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs756297966	6/6	nonpreferredpair	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1492	25	50	SUCCESS
PIGC	5279	.	GRCh37	1	172413127	172413127	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	40	90	0	ENST00000344529.4:c.-209+1G>T		p.X70_splice	ENST00000344529		70		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1302.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTACCCGAG	NONE	.	.	.	.	.	ENSP00000356702	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000367728	Transcript	.	.	ENSG00000135845	8960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGC_HUMAN	PIGC	HGNC	.	.	UPI0000131AB1	SNV	PIGC,splice_donor_variant,,ENST00000258324,;PIGC,splice_donor_variant,,ENST00000344529,;PIGC,5_prime_UTR_variant,,ENST00000367728,;C1orf105,intron_variant,,ENST00000367727,;C1orf105,upstream_gene_variant,,ENST00000488100,;PIGC,splice_donor_variant,,ENST00000484368,;PIGC,upstream_gene_variant,,ENST00000478184,;	100	90	66	SUCCESS
APOBEC4	403314	.	GRCh37	1	183617170	183617170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	481	170	779	0	ENST00000308641.4:c.747T>A	p.Asn249Lys	p.N249K	ENST00000308641	NM_203454.2	249	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS1358.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGATTCCT	NONE	.	.	.	.	.	ENSP00000310622	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000308641	Transcript	.	.	ENSG00000173627	32152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.49)	.	ABEC4_HUMAN	APOBEC4	HGNC	.	.	UPI0000071339	SNV	APOBEC4,missense_variant,p.Asn249Lys,ENST00000308641,;RGL1,intron_variant,,ENST00000304685,;RGL1,intron_variant,,ENST00000536277,;APOBEC4,intron_variant,,ENST00000481562,;	1019	779	651	SUCCESS
OR2T5	401993	.	GRCh37	1	248652333	248652333	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	15	0	ENST00000366473.2:c.444G>C	p.Leu148=	p.L148=	ENST00000366473	NM_001004697.1	148	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31118.1	444	RADIA|VARSCANS	.	TTCCTGGCATC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF200,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000355429	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000366473	Transcript	.	.	ENSG00000203661	15017	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2T5_HUMAN	OR2T5	HGNC	.	.	UPI0000041C43	SNV	OR2T5,synonymous_variant,p.%3D,ENST00000366473,;RP11-407H12.8,upstream_gene_variant,,ENST00000450847,;	449	15	35	SUCCESS
ZNF683	257101	.	GRCh37	1	26694190	26694190	+	synonymous_variant	Silent	SNP	A	A	G	rs772480473	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	135	1	ENST00000403843.1:c.213T>C	p.Ser71=	p.S71=	ENST00000403843		71	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS279.2	213	MUTECT|VARSCANS	.	AGTGCAGACCT	NONE	byFrequency	.	hmmpanther:PTHR23228:SF112,hmmpanther:PTHR23228	.	.	ENSP00000363320	.	3/6	.	.	.	.	.	.	.	.	rs772480473	3/6	nonpreferredpair	ENST00000374204	Transcript	.	.	ENSG00000176083	28495	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN683_HUMAN	ZNF683	HGNC	.	.	UPI000006F8C4	SNV	ZNF683,synonymous_variant,p.%3D,ENST00000451801,;ZNF683,synonymous_variant,p.%3D,ENST00000349618,;ZNF683,synonymous_variant,p.%3D,ENST00000436292,;ZNF683,synonymous_variant,p.%3D,ENST00000403843,;ZNF683,synonymous_variant,p.%3D,ENST00000455900,;ZNF683,synonymous_variant,p.%3D,ENST00000416125,;ZNF683,synonymous_variant,p.%3D,ENST00000374204,;ZNF683,synonymous_variant,p.%3D,ENST00000423508,;ZNF683,intron_variant,,ENST00000454975,;ZNF683,intron_variant,,ENST00000453132,;	331	136	49	SUCCESS
MIR1289-1	100302125	.	GRCh37	20	34041779	34041779	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	39	154	0	ENST00000408836.1:n.141A>G		p.*47*	ENST00000408836				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13254.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTTCCCAA	NONE	.	.	.	.	.	ENSP00000363492	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000374372	Transcript	1	.	ENSG00000125965	4220	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF5_HUMAN	GDF5	HGNC	D3YR76_HUMAN,D3YQT0_HUMAN	.	UPI000002E33B	SNV	GDF5,intron_variant,,ENST00000374372,;CEP250,upstream_gene_variant,,ENST00000446710,;CEP250,upstream_gene_variant,,ENST00000397524,;CEP250,upstream_gene_variant,,ENST00000342580,;CEP250,upstream_gene_variant,,ENST00000420564,;CEP250,upstream_gene_variant,,ENST00000397527,;MIR1289-1,non_coding_transcript_exon_variant,,ENST00000408836,;CEP250,upstream_gene_variant,,ENST00000476146,;CEP250,upstream_gene_variant,,ENST00000461386,;	.	154	150	SUCCESS
TPTE	7179	.	GRCh37	21	10996108	10996108	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	303	70	1048	1	ENST00000415664.2:n.1378T>C		p.*460*	ENST00000415664				0	.	.	.	.	.	G	.	processed_transcript	.	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCGACTTCT	NONE	.	.	.	.	.	.	.	11/32	.	.	.	.	.	.	.	.	.	11/32	nonpreferredpair	ENST00000415664	Transcript	.	.	ENSG00000166157	12023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	TPTE	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1378	1049	373	SUCCESS
TMEM50B	757	.	GRCh37	21	34841213	34841213	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	133	0	ENST00000420455.1:c.-21A>T		p.*7*	ENST00000420455				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13625.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATTTTTC	NONE	.	.	.	.	.	ENSP00000439768	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000542230	Transcript	.	.	ENSG00000142188	1280	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM50B_HUMAN	TMEM50B	HGNC	C9K0I4_HUMAN	.	UPI0000048EAC	SNV	TMEM50B,5_prime_UTR_variant,,ENST00000432504,;TMEM50B,5_prime_UTR_variant,,ENST00000542230,;IFNGR2,intron_variant,,ENST00000421802,;AP000301.1,downstream_gene_variant,,ENST00000581654,;TMEM50B,5_prime_UTR_variant,,ENST00000441128,;TMEM50B,5_prime_UTR_variant,,ENST00000442441,;TMEM50B,5_prime_UTR_variant,,ENST00000420455,;TMEM50B,non_coding_transcript_exon_variant,,ENST00000459909,;TMEM50B,upstream_gene_variant,,ENST00000474272,;	195	133	62	SUCCESS
HDAC10	83933	.	GRCh37	22	50688345	50688345	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	98	0	ENST00000216271.5:c.438G>T	p.Val146=	p.V146=	ENST00000216271	NM_032019.5	146	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14088.1	438	RADIA|MUTECT|MUSE	.	TTGAACACACA	NONE	.	.	hmmpanther:PTHR10625:SF25,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,Superfamily_domains:SSF52768,Prints_domain:PR01270	.	.	ENSP00000216271	.	5/20	.	.	.	.	.	.	.	.	.	5/20	nonpreferredpair	ENST00000216271	Transcript	.	.	ENSG00000100429	18128	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HDA10_HUMAN	HDAC10	HGNC	.	.	UPI000012C3A6	SNV	HDAC10,synonymous_variant,p.%3D,ENST00000349505,;HDAC10,synonymous_variant,p.%3D,ENST00000216271,;HDAC10,synonymous_variant,p.%3D,ENST00000448072,;MAPK12,downstream_gene_variant,,ENST00000215659,;TUBGCP6,upstream_gene_variant,,ENST00000439308,;MAPK12,downstream_gene_variant,,ENST00000395780,;HDAC10,non_coding_transcript_exon_variant,,ENST00000470965,;HDAC10,non_coding_transcript_exon_variant,,ENST00000498366,;HDAC10,non_coding_transcript_exon_variant,,ENST00000483222,;HDAC10,non_coding_transcript_exon_variant,,ENST00000496909,;HDAC10,non_coding_transcript_exon_variant,,ENST00000489424,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,downstream_gene_variant,,ENST00000497483,;HDAC10,synonymous_variant,p.%3D,ENST00000454936,;HDAC10,3_prime_UTR_variant,,ENST00000429374,;HDAC10,3_prime_UTR_variant,,ENST00000415993,;HDAC10,non_coding_transcript_exon_variant,,ENST00000488270,;HDAC10,upstream_gene_variant,,ENST00000475965,;HDAC10,upstream_gene_variant,,ENST00000471375,;HDAC10,downstream_gene_variant,,ENST00000482213,;HDAC10,upstream_gene_variant,,ENST00000496235,;HDAC10,upstream_gene_variant,,ENST00000477814,;MAPK12,downstream_gene_variant,,ENST00000488504,;MAPK12,downstream_gene_variant,,ENST00000482969,;TUBGCP6,upstream_gene_variant,,ENST00000498611,;MAPK12,downstream_gene_variant,,ENST00000497738,;MAPK12,downstream_gene_variant,,ENST00000467891,;MAPK12,downstream_gene_variant,,ENST00000496942,;HDAC10,upstream_gene_variant,,ENST00000470378,;HDAC10,upstream_gene_variant,,ENST00000476310,;HDAC10,upstream_gene_variant,,ENST00000497952,;	791	98	59	SUCCESS
NCKAP5	344148	.	GRCh37	2	133538773	133538773	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	118	538	0	ENST00000409261.1:c.4901A>C	p.Glu1634Ala	p.E1634A	ENST00000409261	NM_207363.2	1634	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS46418.1	4901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTTCTGTC	NONE	.	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740,Pfam_domain:PF15246	.	.	ENSP00000387128	.	15/20	.	.	.	.	.	.	.	.	.	15/20	nonpreferredpair	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.558)	.	tolerated(0.06)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Glu1634Ala,ENST00000409261,;NCKAP5,missense_variant,p.Glu1634Ala,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,non_coding_transcript_exon_variant,,ENST00000473859,;	5275	538	263	SUCCESS
SESTD1	91404	.	GRCh37	2	180036920	180036920	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	70	317	0	ENST00000428443.3:c.296A>G	p.Lys99Arg	p.K99R	ENST00000428443	NM_178123.4	99	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33338.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTTTACC	NONE	.	.	Pfam_domain:PF13716,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19,PROSITE_profiles:PS50191	.	.	ENSP00000415332	.	5/18	.	.	.	.	.	.	.	.	.	5/18	nonpreferredpair	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.02)	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	SNV	SESTD1,missense_variant,p.Lys99Arg,ENST00000428443,;SESTD1,missense_variant,p.Lys99Arg,ENST00000435047,;SESTD1,missense_variant,p.Lys99Arg,ENST00000440010,;SESTD1,non_coding_transcript_exon_variant,,ENST00000486468,;SESTD1,downstream_gene_variant,,ENST00000452991,;	613	317	179	SUCCESS
TRAK2	66008	.	GRCh37	2	202245372	202245372	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	49	222	0	ENST00000332624.3:c.2639T>A	p.Leu880Ter	p.L880*	ENST00000332624	NM_015049.2	880	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS2347.1	2639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATAAACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	16/16	.	.	.	.	.	.	.	.	.	16/16	nonpreferredpair	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,stop_gained,p.Leu880Ter,ENST00000332624,;	3068	222	120	SUCCESS
NGEF	25791	.	GRCh37	2	233877926	233877926	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	219	0	ENST00000264051.3:c.-223T>A		p.*75*	ENST00000264051	NM_019850.2	65		0	.	.	.	.	.	T	K/N	protein_coding	YES	.	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAAAACTT	NONE	.	.	.	.	.	ENSP00000386846	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000409905	Transcript	.	.	ENSG00000222001	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	.	.	.	AC106876.2	Clone_based_vega_gene	B9A007_HUMAN	.	UPI0000DD7A97	SNV	AC106876.2,missense_variant,p.Lys65Asn,ENST00000409905,;NGEF,5_prime_UTR_variant,,ENST00000264051,;AC106876.2,non_coding_transcript_exon_variant,,ENST00000463534,;	433	219	92	SUCCESS
THUMPD2	80745	.	GRCh37	2	39996165	39996165	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	48	329	1	ENST00000505747.1:c.673-524A>G		p.*225*	ENST00000505747	NM_025264.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1805.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCTTCTCT	NONE	.	.	.	.	.	ENSP00000423933	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000505747	Transcript	.	.	ENSG00000138050	14890	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THUM2_HUMAN	THUMPD2	HGNC	D6W593_HUMAN	.	UPI0000D6DA73	SNV	THUMPD2,synonymous_variant,p.%3D,ENST00000454352,;THUMPD2,intron_variant,,ENST00000505747,;THUMPD2,intron_variant,,ENST00000260619,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000403537,;THUMPD2,downstream_gene_variant,,ENST00000531687,;THUMPD2,synonymous_variant,p.%3D,ENST00000510781,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000460072,;THUMPD2,intron_variant,,ENST00000530522,;THUMPD2,intron_variant,,ENST00000378727,;THUMPD2,upstream_gene_variant,,ENST00000527689,;	.	330	130	SUCCESS
TRPC1	7220	.	GRCh37	3	142525018	142525018	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	90	288	0	ENST00000476941.1:c.2323A>G	p.Ile775Val	p.I775V	ENST00000476941	NM_001251845.1	775	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS58856.1	2323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAATAAGG	BUFFER|p.R738Q|c.2213G>A|3	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF3	.	.	ENSP00000419313	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000476941	Transcript	.	.	ENSG00000144935	12333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.5)	.	TRPC1_HUMAN	TRPC1	HGNC	.	.	UPI00001374A4	SNV	TRPC1,missense_variant,p.Ile741Val,ENST00000273482,;TRPC1,missense_variant,p.Ile775Val,ENST00000476941,;RNU7-47P,downstream_gene_variant,,ENST00000515978,;	2809	288	210	SUCCESS
SLITRK3	22865	.	GRCh37	3	164907129	164907129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	79	0	ENST00000241274.3:c.1490C>T	p.Pro497Leu	p.P497L	ENST00000241274	NM_014926.2	497	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3197.1	1490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGGCTGG	NONE	.	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.02)	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,missense_variant,p.Pro497Leu,ENST00000475390,;SLITRK3,missense_variant,p.Pro497Leu,ENST00000241274,;SLITRK3,downstream_gene_variant,,ENST00000497724,;	1934	79	41	SUCCESS
TTC14	151613	.	GRCh37	3	180320104	180320104	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	37	0	ENST00000296015.4:c.55T>G	p.Ser19Ala	p.S19A	ENST00000296015	NM_133462.3	19	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS3237.1	55	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCTCTCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184	.	.	ENSP00000296015	.	1/12	.	.	.	.	.	.	.	.	.	1/12	nonpreferredpair	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.17)	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,missense_variant,p.Ser19Ala,ENST00000491380,;TTC14,missense_variant,p.Ser19Ala,ENST00000382584,;TTC14,missense_variant,p.Ser19Ala,ENST00000296015,;TTC14,missense_variant,p.Ser19Ala,ENST00000412756,;TTC14,upstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000473854,;TTC14,upstream_gene_variant,,ENST00000495660,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,missense_variant,p.Ser19Ala,ENST00000465065,;TTC14,missense_variant,p.Ser19Ala,ENST00000470669,;TTC14,missense_variant,p.Ser19Ala,ENST00000462895,;	187	37	17	SUCCESS
ENTPD3	956	.	GRCh37	3	40442397	40442397	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	64	406	0	ENST00000301825.3:c.181C>T	p.Leu61=	p.L61=	ENST00000301825	NM_001248.2	61	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2691.1	181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGCTGGAT	NONE	.	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF38,Pfam_domain:PF01150	.	.	ENSP00000301825	.	4/11	.	.	.	.	.	.	.	.	.	4/11	nonpreferredpair	ENST00000301825	Transcript	.	.	ENSG00000168032	3365	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP3_HUMAN	ENTPD3	HGNC	.	.	UPI000013E75E	SNV	ENTPD3,synonymous_variant,p.%3D,ENST00000445129,;ENTPD3,synonymous_variant,p.%3D,ENST00000456402,;ENTPD3,synonymous_variant,p.%3D,ENST00000439533,;ENTPD3,synonymous_variant,p.%3D,ENST00000301825,;ENTPD3-AS1,intron_variant,,ENST00000425156,;ENTPD3-AS1,intron_variant,,ENST00000452768,;ENTPD3-AS1,intron_variant,,ENST00000439293,;	299	406	145	SUCCESS
RASSF1	11186	.	GRCh37	3	50375635	50375635	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	15	0	ENST00000357043.2:c.251-181G>T		p.*84*	ENST00000357043				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2820.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCCACAG	NONE	.	.	.	.	.	ENSP00000349547	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000357043	Transcript	.	.	ENSG00000068028	9882	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF1_HUMAN	RASSF1	HGNC	Q1W2K8_HUMAN	.	UPI000006FD97	SNV	RASSF1,5_prime_UTR_variant,,ENST00000395126,;RASSF1,intron_variant,,ENST00000357043,;RASSF1,intron_variant,,ENST00000359365,;ZMYND10,downstream_gene_variant,,ENST00000360165,;ZMYND10,downstream_gene_variant,,ENST00000231749,;RASSF1,upstream_gene_variant,,ENST00000327761,;ZMYND10,downstream_gene_variant,,ENST00000442887,;ZMYND10-AS1,upstream_gene_variant,,ENST00000440013,;RASSF1,intron_variant,,ENST00000488024,;ZMYND10,downstream_gene_variant,,ENST00000490675,;RASSF1,non_coding_transcript_exon_variant,,ENST00000494145,;RASSF1,intron_variant,,ENST00000478619,;RASSF1,intron_variant,,ENST00000482447,;RASSF1,intron_variant,,ENST00000395117,;ZMYND10,downstream_gene_variant,,ENST00000443080,;ZMYND10,downstream_gene_variant,,ENST00000475688,;ZMYND10,downstream_gene_variant,,ENST00000478269,;	.	15	21	SUCCESS
OGG1	4968	.	GRCh37	3	9792677	9792677	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	130	0	ENST00000344629.7:c.186A>C	p.Gln62His	p.Q62H	ENST00000344629		62	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS2576.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCAAGTATG	NONE	.	.	Superfamily_domains:SSF55945,Gene3D:2xhiA01,TIGRFAM_domain:TIGR00588,Pfam_domain:PF07934,hmmpanther:PTHR10242,hmmpanther:PTHR10242:SF2	.	.	ENSP00000306561	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000302036	Transcript	.	.	ENSG00000114026	8125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.12)	.	OGG1_HUMAN	OGG1	HGNC	E5KPM5_HUMAN	.	UPI000002B01B	SNV	OGG1,missense_variant,p.Gln62His,ENST00000349503,;OGG1,missense_variant,p.Gln62His,ENST00000302036,;OGG1,missense_variant,p.Gln62His,ENST00000449570,;OGG1,missense_variant,p.Gln62His,ENST00000344629,;OGG1,missense_variant,p.Gln62His,ENST00000339511,;OGG1,missense_variant,p.Gln62His,ENST00000302003,;OGG1,missense_variant,p.Gln62His,ENST00000302008,;OGG1,missense_variant,p.Gln62His,ENST00000383826,;OGG1,intron_variant,,ENST00000441094,;OGG1,upstream_gene_variant,,ENST00000416333,;OGG1,upstream_gene_variant,,ENST00000426518,;BRPF1,downstream_gene_variant,,ENST00000424362,;BRPF1,downstream_gene_variant,,ENST00000433861,;BRPF1,downstream_gene_variant,,ENST00000302054,;BRPF1,downstream_gene_variant,,ENST00000457855,;OGG1,upstream_gene_variant,,ENST00000352937,;BRPF1,downstream_gene_variant,,ENST00000383829,;OGG1,non_coding_transcript_exon_variant,,ENST00000436092,;OGG1,upstream_gene_variant,,ENST00000383825,;OGG1,missense_variant,p.Gln40His,ENST00000429146,;OGG1,non_coding_transcript_exon_variant,,ENST00000432857,;OGG1,intron_variant,,ENST00000425665,;BRPF1,downstream_gene_variant,,ENST00000497565,;	529	130	67	SUCCESS
DCLK2	166614	.	GRCh37	4	151000159	151000159	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs772788043	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	28	39	0	ENST00000296550.7:c.-21G>A		p.*7*	ENST00000296550	NM_001040260.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47142.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGGACGCC	NONE	byFrequency	21	.	.	.	ENSP00000303887	.	.	.	.	.	.	.	.	.	.	rs772788043	.	nonpreferredpair	ENST00000302176	Transcript	.	.	ENSG00000170390	19002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCLK2_HUMAN	DCLK2	HGNC	.	.	UPI0000D615C9	SNV	DCLK2,5_prime_UTR_variant,,ENST00000296550,;DCLK2,upstream_gene_variant,,ENST00000302176,;DCLK2,upstream_gene_variant,,ENST00000506325,;DCLK2,5_prime_UTR_variant,,ENST00000411937,;	.	39	37	SUCCESS
SLC12A7	10723	.	GRCh37	5	1079607	1079607	+	synonymous_variant	Silent	SNP	G	G	A	rs746691377	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	77	0	ENST00000264930.5:c.1302C>T	p.Ile434=	p.I434=	ENST00000264930	NM_006598.2	434	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34129.1	1302	RADIA|MUTECT	.	GCCATGATACC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	10/24	.	.	.	.	.	.	.	.	rs746691377	10/24	nonpreferredpair	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,synonymous_variant,p.%3D,ENST00000264930,;SLC12A7,upstream_gene_variant,,ENST00000513223,;SLC12A7,non_coding_transcript_exon_variant,,ENST00000510943,;SLC12A7,upstream_gene_variant,,ENST00000504576,;	1346	77	35	SUCCESS
PLAC8L1	153770	.	GRCh37	5	145483862	145483862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	277	0	ENST00000311450.4:c.13G>A	p.Gly5Arg	p.G5R	ENST00000311450	NM_001029869.1	5	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34264.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCAAACC	NONE	.	.	hmmpanther:PTHR15907:SF38,hmmpanther:PTHR15907	.	.	ENSP00000309087	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000311450	Transcript	.	.	ENSG00000173261	31746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated_low_confidence(0.22)	.	PL8L1_HUMAN	PLAC8L1	HGNC	.	.	UPI000015FDFA	SNV	PLAC8L1,missense_variant,p.Gly5Arg,ENST00000311450,;RP11-118M9.3,intron_variant,,ENST00000514002,;PLAC8L1,missense_variant,p.Gly5Arg,ENST00000512998,;	71	277	126	SUCCESS
C6	729	.	GRCh37	5	41201723	41201723	+	synonymous_variant	Silent	SNP	G	G	A	rs398122811	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	72	420	0	ENST00000263413.3:c.237C>T	p.Pro79=	p.P79=	ENST00000263413	NM_001115131.2	79	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3936.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TTGATGGGGCA	NONE	.	.	SMART_domains:SM00209,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,PROSITE_profiles:PS50092	.	.	ENSP00000263413	.	3/18	.	.	.	.	.	.	.	.	rs398122811,CD961874,C6base_D0108:g.18158delC,COSM354490	3/18	nonpreferredpair	ENST00000263413	Transcript	1	.	ENSG00000039537	1339	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,0,1	.	.	.	.	.	0,0,0,1	CO6_HUMAN	C6	HGNC	C9JX36_HUMAN,C9JC72_HUMAN	.	UPI000013D401	SNV	C6,synonymous_variant,p.%3D,ENST00000263413,;C6,synonymous_variant,p.%3D,ENST00000417809,;C6,synonymous_variant,p.%3D,ENST00000337836,;C6,downstream_gene_variant,,ENST00000433294,;	502	420	171	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	208	0	ENST00000309268.6:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000309268		432	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4980.1	1295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGTCTGT	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM2151856	7/7	nonpreferredpair	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.58)	.	deleterious_low_confidence(0.03)	1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ile,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2287	208	102	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	209	0	ENST00000309268.6:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000309268		432	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4980.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTCTGTC	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM3162419,COSM3745352	7/7	nonpreferredpair	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	deleterious_low_confidence(0)	1,1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ser,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2286	209	101	SUCCESS
LAMB4	22798	.	GRCh37	7	107704297	107704298	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	145	53	422	0	ENST00000205386.4:c.2969_2970del	p.Glu990ValfsTer54	p.E990Vfs*54	ENST00000205386		990	gAG/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS34732.1	2969-2970	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGCACTCCCCT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000373433	.	22/34	.	.	.	.	.	.	.	.	.	22/34	nonpreferredpair	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	deletion	LAMB4,frameshift_variant,p.Glu990ValfsTer54,ENST00000388781,;LAMB4,frameshift_variant,p.Glu16ValfsTer54,ENST00000422975,;LAMB4,frameshift_variant,p.Glu990ValfsTer54,ENST00000388780,;LAMB4,frameshift_variant,p.Glu990ValfsTer54,ENST00000205386,;LAMB4,non_coding_transcript_exon_variant,,ENST00000471677,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	3053-3054	422	198	SUCCESS
RNF216	54476	.	GRCh37	7	5681008	5681008	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	40	119	0	ENST00000425013.2:c.1989-1G>T		p.X663_splice	ENST00000425013	NM_207111.3	663		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34594.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACTGAAA	NONE	.	.	.	.	.	ENSP00000374552	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000389902	Transcript	.	.	ENSG00000011275	21698	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN216_HUMAN	RNF216	HGNC	C9JIV3_HUMAN	.	UPI000013F5B3	SNV	RNF216,splice_acceptor_variant,,ENST00000389902,;RNF216,splice_acceptor_variant,,ENST00000425013,;RNF216,splice_acceptor_variant,,ENST00000484458,;RNF216,splice_acceptor_variant,,ENST00000469375,;RNF216,splice_acceptor_variant,,ENST00000389900,;	.	119	86	SUCCESS
MFSD3	113655	.	GRCh37	8	145735131	145735131	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	43	0	ENST00000301327.4:c.415C>T	p.Gln139Ter	p.Q139*	ENST00000301327	NM_138431.1	139	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6431.1	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGCAGGTG	NONE	.	.	hmmpanther:PTHR12778,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000301327	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000301327	Transcript	.	.	ENSG00000167700	25157	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFSD3_HUMAN	MFSD3	HGNC	.	.	UPI0000072E5F	SNV	MFSD3,stop_gained,p.Gln139Ter,ENST00000301327,;GPT,downstream_gene_variant,,ENST00000528431,;GPT,downstream_gene_variant,,ENST00000394955,;RECQL4,downstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000428558,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.14,upstream_gene_variant,,ENST00000527086,;CTD-2517M22.17,upstream_gene_variant,,ENST00000580385,;RECQL4,downstream_gene_variant,,ENST00000532237,;RECQL4,downstream_gene_variant,,ENST00000531875,;RECQL4,downstream_gene_variant,,ENST00000529424,;RECQL4,downstream_gene_variant,,ENST00000532269,;MFSD3,non_coding_transcript_exon_variant,,ENST00000528047,;MFSD3,non_coding_transcript_exon_variant,,ENST00000526749,;GPT,downstream_gene_variant,,ENST00000527165,;RECQL4,downstream_gene_variant,,ENST00000301323,;GPT,downstream_gene_variant,,ENST00000354769,;GPT,downstream_gene_variant,,ENST00000531330,;CTD-2517M22.14,upstream_gene_variant,,ENST00000528690,;MFSD3,upstream_gene_variant,,ENST00000534427,;GPT,downstream_gene_variant,,ENST00000534702,;GPT,downstream_gene_variant,,ENST00000527961,;	675	43	56	SUCCESS
STAR	6770	.	GRCh37	8	38008314	38008314	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	33	0	ENST00000276449.4:c.23T>C	p.Leu8Pro	p.L8P	ENST00000276449	NM_000349.2	8	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6102.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACAGCTTG	NONE	.	.	hmmpanther:PTHR12136:SF9,hmmpanther:PTHR12136,Prints_domain:PR00978	.	.	ENSP00000276449	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000276449	Transcript	1	.	ENSG00000147465	11359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STAR_HUMAN	STAR	HGNC	Q6QNJ9_HUMAN,Q6IBK0_HUMAN,E5RH12_HUMAN	.	UPI000013DAC9	SNV	STAR,missense_variant,p.Leu8Pro,ENST00000276449,;STAR,upstream_gene_variant,,ENST00000521236,;STAR,upstream_gene_variant,,ENST00000522050,;RP11-90P5.2,intron_variant,,ENST00000520598,;STAR,non_coding_transcript_exon_variant,,ENST00000520114,;	470	33	18	SUCCESS
RAB2A	5862	.	GRCh37	8	61496802	61496802	+	synonymous_variant	Silent	SNP	G	G	T	rs535641144	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	37	117	0	ENST00000262646.7:c.222G>T	p.Ser74=	p.S74=	ENST00000262646	NM_002865.2	74	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6175.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGTATTA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF359,PROSITE_profiles:PS51419	.	.	ENSP00000262646	.	4/8	.	.	.	.	.	.	.	.	rs535641144	4/8	nonpreferredpair	ENST00000262646	Transcript	.	.	ENSG00000104388	9763	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB2A_HUMAN	RAB2A	HGNC	.	.	UPI0000133168	SNV	RAB2A,synonymous_variant,p.%3D,ENST00000529579,;RAB2A,synonymous_variant,p.%3D,ENST00000531289,;RAB2A,synonymous_variant,p.%3D,ENST00000262646,;RAB2A,upstream_gene_variant,,ENST00000452437,;RAB2A,non_coding_transcript_exon_variant,,ENST00000530071,;RAB2A,missense_variant,p.Val91Leu,ENST00000466595,;RAB2A,3_prime_UTR_variant,,ENST00000534260,;RAB2A,non_coding_transcript_exon_variant,,ENST00000525529,;RAB2A,non_coding_transcript_exon_variant,,ENST00000429861,;	573	117	108	SUCCESS
ALAD	210	.	GRCh37	9	116152930	116152930	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778238328	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	45	0	ENST00000409155.3:c.424C>T	p.Arg142Trp	p.R142W	ENST00000409155	NM_000031.5	142	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6794.2	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGGAATG	NONE	.	.	hmmpanther:PTHR11458,hmmpanther:PTHR11458:SF0,Gene3D:3.20.20.70,Pfam_domain:PF00490,SMART_domains:SM01004,PIRSF_domain:PIRSF001415,Superfamily_domains:SSF51569	.	.	ENSP00000386284	.	6/12	.	.	.	.	.	.	.	.	rs778238328	6/12	nonpreferredpair	ENST00000409155	Transcript	.	.	ENSG00000148218	395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0.01)	.	HEM2_HUMAN	ALAD	HGNC	.	.	UPI0000037431	SNV	ALAD,missense_variant,p.Arg125Trp,ENST00000277315,;ALAD,missense_variant,p.Arg142Trp,ENST00000409155,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000448137,;ALAD,downstream_gene_variant,,ENST00000445750,;ALAD,downstream_gene_variant,,ENST00000482001,;ALAD,non_coding_transcript_exon_variant,,ENST00000482847,;ALAD,non_coding_transcript_exon_variant,,ENST00000468504,;ALAD,non_coding_transcript_exon_variant,,ENST00000464749,;ALAD,downstream_gene_variant,,ENST00000494848,;	621	45	15	SUCCESS
SLC2A6	11182	.	GRCh37	9	136339125	136339125	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767052534	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	15	57	0	ENST00000371899.4:c.1013G>T	p.Arg338Leu	p.R338L	ENST00000371899	NM_017585.3	338	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS6975.1	1013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCGGCCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,PROSITE_patterns:PS00216,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000360966	.	7/10	.	.	.	.	.	.	.	.	rs767052534	7/10	nonpreferredpair	ENST00000371899	Transcript	.	.	ENSG00000160326	11011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GTR6_HUMAN	SLC2A6	HGNC	.	.	UPI0000001BE8	SNV	SLC2A6,missense_variant,p.Arg338Leu,ENST00000371899,;SLC2A6,missense_variant,p.Arg338Leu,ENST00000371897,;SLC2A6,downstream_gene_variant,,ENST00000414172,;CACFD1,downstream_gene_variant,,ENST00000542192,;SLC2A6,downstream_gene_variant,,ENST00000432868,;CACFD1,downstream_gene_variant,,ENST00000316948,;CACFD1,downstream_gene_variant,,ENST00000291722,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;	1091	57	22	SUCCESS
CREB3	10488	.	GRCh37	9	35732606	35732606	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	9	26	0	ENST00000353704.2:c.-164G>C		p.*55*	ENST00000353704	NM_006368.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6588.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ATTGAGCCTGG	NONE	.	.	.	.	.	ENSP00000342136	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000353704	Transcript	.	.	ENSG00000107175	2347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CREB3_HUMAN	CREB3	HGNC	B4DSK1_HUMAN	.	UPI0000073728	SNV	CREB3,5_prime_UTR_variant,,ENST00000353704,;GBA2,downstream_gene_variant,,ENST00000378088,;GBA2,downstream_gene_variant,,ENST00000378094,;TLN1,upstream_gene_variant,,ENST00000540444,;TLN1,upstream_gene_variant,,ENST00000314888,;GBA2,downstream_gene_variant,,ENST00000378103,;GBA2,downstream_gene_variant,,ENST00000545786,;CREB3,non_coding_transcript_exon_variant,,ENST00000486056,;TLN1,upstream_gene_variant,,ENST00000378192,;	275	26	13	SUCCESS
S1PR3	1903	.	GRCh37	9	91616620	91616620	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778344408	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	36	120	0	ENST00000358157.2:c.505G>T	p.Gly169Cys	p.G169C	ENST00000358157	NM_005226.3	169	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS6680.1	505	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCTGGGCGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF24,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	rs778344408	1/1	nonpreferredpair	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,missense_variant,p.Gly169Cys,ENST00000358157,;S1PR3,missense_variant,p.Gly169Cys,ENST00000375846,;	5200	120	47	SUCCESS
MTM1	4534	.	GRCh37	X	149814213	149814213	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781984239	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	98	200	0	ENST00000370396.2:c.736C>T	p.Leu246Phe	p.L246F	ENST00000370396	NM_000252.2	246	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14694.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCTTGTC	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF62,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000359423	.	9/15	.	.	.	.	.	.	.	.	rs781984239	9/15	nonpreferredpair	ENST00000370396	Transcript	.	.	ENSG00000171100	7448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	MTM1_HUMAN	MTM1	HGNC	B7Z499_HUMAN	.	UPI000012F7F5	SNV	MTM1,missense_variant,p.Leu151Phe,ENST00000542741,;MTM1,missense_variant,p.Leu131Phe,ENST00000543350,;MTM1,missense_variant,p.Leu246Phe,ENST00000370396,;MTM1,missense_variant,p.Leu209Phe,ENST00000413012,;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;MTM1,non_coding_transcript_exon_variant,,ENST00000490530,;	790	200	112	SUCCESS
FAM104B	90736	.	GRCh37	X	55172691	55172691	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	38	0	ENST00000358460.4:c.174A>G	p.Arg58=	p.R58=	ENST00000358460		58	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS55425.1	177	RADIA|VARSCANS	.	CTTGCTCTCTC	NONE	.	.	Pfam_domain:PF15434	.	.	ENSP00000397188	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000425133	Transcript	.	.	ENSG00000182518	25085	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F104B_HUMAN	FAM104B	HGNC	.	.	UPI0000D7A492	SNV	FAM104B,synonymous_variant,p.%3D,ENST00000489298,;FAM104B,synonymous_variant,p.%3D,ENST00000358460,;FAM104B,synonymous_variant,p.%3D,ENST00000332132,;FAM104B,synonymous_variant,p.%3D,ENST00000477847,;FAM104B,synonymous_variant,p.%3D,ENST00000425133,;FAM104B,3_prime_UTR_variant,,ENST00000472571,;FAM104B,downstream_gene_variant,,ENST00000478918,;	216	38	36	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4925135	4925135	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	10	399	1	ENST00000400457.2:c.208A>T	p.Thr70Ser	p.T70S	ENST00000400457	NM_032973.2	70	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS14777.1	271	MUTECT|MUSE	.	TGACAACTACT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08266	.	.	ENSP00000355419	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Thr91Ser,ENST00000215473,;PCDH11Y,missense_variant,p.Thr80Ser,ENST00000333703,;PCDH11Y,missense_variant,p.Thr70Ser,ENST00000400457,;PCDH11Y,missense_variant,p.Thr91Ser,ENST00000362095,;	1005	400	210	SUCCESS
PDCD11	22984	.	GRCh37	10	105162878	105162878	+	synonymous_variant	Silent	SNP	C	C	T	rs1231896341	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	52	320	0	ENST00000369797.3:c.238C>T	p.Leu80=	p.L80=	ENST00000369797	NM_014976.1	80	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31276.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCTGTGT	NONE	.	.	hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,Gene3D:2.40.50.140,Superfamily_domains:SSF50249	.	.	ENSP00000358812	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,synonymous_variant,p.%3D,ENST00000369797,;PDCD11,3_prime_UTR_variant,,ENST00000493610,;PDCD11,upstream_gene_variant,,ENST00000471061,;	332	320	197	SUCCESS
CASP7	840	.	GRCh37	10	115457351	115457351	+	synonymous_variant	Silent	SNP	G	G	A	rs1317524156	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	113	0	ENST00000345633.4:c.99G>A	p.Pro33=	p.P33=	ENST00000345633	NM_033339.4	33	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7580.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCGTCCCT	NONE	.	.	hmmpanther:PTHR10454	.	.	ENSP00000358327	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000369321	Transcript	.	.	ENSG00000165806	1508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASP7_HUMAN	CASP7	HGNC	Q5SVL2_HUMAN	.	UPI000002AB99	SNV	CASP7,synonymous_variant,p.%3D,ENST00000429617,;CASP7,synonymous_variant,p.%3D,ENST00000345633,;CASP7,synonymous_variant,p.%3D,ENST00000369321,;CASP7,synonymous_variant,p.%3D,ENST00000369318,;CASP7,synonymous_variant,p.%3D,ENST00000369331,;CASP7,synonymous_variant,p.%3D,ENST00000369315,;	518	113	64	SUCCESS
CSGALNACT2	55454	.	GRCh37	10	43650967	43650967	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	33	89	0	ENST00000374466.3:c.370C>T	p.Leu124Phe	p.L124F	ENST00000374466	NM_018590.4	124	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7201.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCTTCAT	NONE	.	.	Pfam_domain:PF05679,hmmpanther:PTHR12369:SF19,hmmpanther:PTHR12369	.	.	ENSP00000363590	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000374466	Transcript	.	.	ENSG00000169826	24292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.26)	.	CGAT2_HUMAN	CSGALNACT2	HGNC	.	.	UPI000000D725	SNV	CSGALNACT2,missense_variant,p.Leu124Phe,ENST00000374464,;CSGALNACT2,missense_variant,p.Leu124Phe,ENST00000374466,;	705	89	61	SUCCESS
PALD1	27143	.	GRCh37	10	72324191	72324191	+	synonymous_variant	Silent	SNP	T	T	C	rs771419930	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	151	0	ENST00000263563.6:c.2334T>C	p.Tyr778=	p.Y778=	ENST00000263563	NM_014431.2	778	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS31215.1	2334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTATGTCTG	NONE	byFrequency	.	Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339	.	.	ENSP00000263563	.	19/20	.	.	.	.	.	.	.	.	rs771419930	19/20	PASS	ENST00000263563	Transcript	.	.	ENSG00000107719	23530	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALD_HUMAN	PALD1	HGNC	.	.	UPI00001C1EDC	SNV	PALD1,synonymous_variant,p.%3D,ENST00000263563,;	2602	151	73	SUCCESS
VCL	7414	.	GRCh37	10	75830792	75830792	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	56	165	0	ENST00000211998.4:c.451del	p.Val151TrpfsTer18	p.V151Wfs*18	ENST00000211998	NM_014000.2	150	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS7341.1	450	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGGTGGTGGA	NONE	.	.	hmmpanther:PTHR18914:SF22,hmmpanther:PTHR18914,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220	.	.	ENSP00000211998	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000211998	Transcript	1	.	ENSG00000035403	12665	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VINC_HUMAN	VCL	HGNC	Q5JQ13_HUMAN	.	UPI0000167B54	deletion	VCL,frameshift_variant,p.Val151TrpfsTer18,ENST00000211998,;VCL,frameshift_variant,p.Val151TrpfsTer18,ENST00000372755,;VCL,intron_variant,,ENST00000417648,;VCL,intron_variant,,ENST00000478896,;	544	165	139	SUCCESS
TMEM254	80195	.	GRCh37	10	81850592	81850592	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	166	0	ENST00000372281.3:c.291G>C	p.Trp97Cys	p.W97C	ENST00000372281	NM_001270372.1	97	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS7363.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGTTCCT	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF14934	.	.	ENSP00000361355	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372281	Transcript	.	.	ENSG00000133678	25804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TM254_HUMAN	TMEM254	HGNC	.	.	UPI0000072C96	SNV	TMEM254,missense_variant,p.Trp75Cys,ENST00000450179,;TMEM254,missense_variant,p.Trp118Cys,ENST00000372273,;TMEM254,missense_variant,p.Trp97Cys,ENST00000372281,;TMEM254,3_prime_UTR_variant,,ENST00000372274,;TMEM254,3_prime_UTR_variant,,ENST00000372275,;TMEM254,downstream_gene_variant,,ENST00000372277,;TMEM254,non_coding_transcript_exon_variant,,ENST00000472622,;TMEM254,non_coding_transcript_exon_variant,,ENST00000476173,;TMEM254,non_coding_transcript_exon_variant,,ENST00000467529,;TMEM254,non_coding_transcript_exon_variant,,ENST00000483732,;TMEM254,non_coding_transcript_exon_variant,,ENST00000463029,;TMEM254,downstream_gene_variant,,ENST00000463209,;	321	166	80	SUCCESS
GRIK4	2900	.	GRCh37	11	120530999	120530999	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs548988998	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	47	0	ENST00000438375.2:c.-29G>T		p.*10*	ENST00000438375	NM_014619.2			0	.	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS8433.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCAGGG	NONE	by1000G	.	.	A:0	.	ENSP00000435648	A:0	3/21	.	.	.	.	.	.	.	.	rs548988998	3/21	PASS	ENST00000527524	Transcript	.	A:0.0002	ENSG00000149403	4582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,5_prime_UTR_variant,,ENST00000438375,;GRIK4,5_prime_UTR_variant,,ENST00000527524,;GRIK4,intron_variant,,ENST00000526536,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	259	47	27	SUCCESS
SORL1	6653	.	GRCh37	11	121383718	121383718	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	87	0	ENST00000260197.7:c.946T>C	p.Leu316=	p.L316=	ENST00000260197	NM_003105.5	316	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS8436.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTTGGGC	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602	.	.	ENSP00000260197	.	7/48	.	.	.	.	.	.	.	.	.	7/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,synonymous_variant,p.%3D,ENST00000260197,;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	1075	87	85	SUCCESS
TMEM225	338661	.	GRCh37	11	123753908	123753908	+	synonymous_variant	Silent	SNP	A	A	T	rs369698336	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	80	182	0	ENST00000375026.2:c.615T>A	p.Arg205=	p.R205=	ENST00000375026	NM_001013743.1	205	cgT/cgA	0	C:0.0002	.	.	.	.	T	R	protein_coding	YES	CCDS31697.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCACGGAC	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000364166	.	4/4	.	.	.	.	.	.	.	.	rs369698336	4/4	PASS	ENST00000375026	Transcript	.	.	ENSG00000204300	32390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM225_HUMAN	TMEM225	HGNC	.	.	UPI00003B5C5B	SNV	TMEM225,synonymous_variant,p.%3D,ENST00000375026,;TMEM225,downstream_gene_variant,,ENST00000528595,;	832	182	178	SUCCESS
CALCA	796	.	GRCh37	11	14990439	14990439	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs377551213	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	56	173	0	ENST00000331587.4:c.332T>A	p.Ile111Asn	p.I111N	ENST00000331587	NM_001741.2	111	aTt/aAt	0	G:0.0005	G:0.0008	.	G:0	.	T	I/N	protein_coding	YES	CCDS7819.1	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAATTGCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10505,hmmpanther:PTHR10505:SF9,Pfam_domain:PF00214,SMART_domains:SM00113,Prints_domain:PR00270	G:0	G:0	ENSP00000331746	G:0	4/4	.	.	.	.	.	.	.	.	rs377551213	4/4	PASS	ENST00000331587	Transcript	.	G:0.0002	ENSG00000110680	1437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	G:0	deleterious(0)	.	CALC_HUMAN	CALCA	HGNC	.	.	UPI00001AFED8	SNV	CALCA,missense_variant,p.Ile111Asn,ENST00000396372,;CALCA,missense_variant,p.Ile111Asn,ENST00000331587,;CALCA,missense_variant,p.Ile111Asn,ENST00000359642,;CALCB,intron_variant,,ENST00000523376,;CALCA,intron_variant,,ENST00000361010,;CALCA,intron_variant,,ENST00000486207,;CALCA,missense_variant,p.Ile111Asn,ENST00000469608,;CALCA,non_coding_transcript_exon_variant,,ENST00000494746,;	451	173	114	SUCCESS
KRTAP5-1	387264	.	GRCh37	11	1606219	1606219	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	60	178	0	ENST00000382171.2:c.261G>T	p.Gly87=	p.G87=	ENST00000382171	NM_001005922.1	87	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31330.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCCCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262	.	.	ENSP00000371606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382171	Transcript	.	.	ENSG00000205869	23596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA51_HUMAN	KRTAP5-1	HGNC	.	.	UPI000037605D	SNV	KRTAP5-1,synonymous_variant,p.%3D,ENST00000382171,;KRTAP5-AS1,intron_variant,,ENST00000534077,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;	295	178	143	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137651	40137651	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	87	0	ENST00000278198.2:c.192G>A	p.Arg64=	p.R64=	ENST00000278198		64	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31464.1	192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCCGAAC	NONE	.	.	hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	COSM3447228	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,synonymous_variant,p.%3D,ENST00000528697,;LRRC4C,synonymous_variant,p.%3D,ENST00000278198,;LRRC4C,synonymous_variant,p.%3D,ENST00000530763,;LRRC4C,synonymous_variant,p.%3D,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2156	87	84	SUCCESS
ALKBH3	221120	.	GRCh37	11	43923153	43923153	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	98	0	ENST00000302708.4:c.547A>T	p.Asn183Tyr	p.N183Y	ENST00000302708	NM_139178.3	183	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS7906.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCAATGAG	BUFFER|p.E184D|c.552G>C|4	.	.	PROSITE_profiles:PS51471,hmmpanther:PTHR31212,Pfam_domain:PF13532,Gene3D:3i3qA00,Superfamily_domains:SSF51197	.	.	ENSP00000302232	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000302708	Transcript	.	.	ENSG00000166199	30141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	ALKB3_HUMAN	ALKBH3	HGNC	E9PRD0_HUMAN	.	UPI0000039EA0	SNV	ALKBH3,missense_variant,p.Asn183Tyr,ENST00000302708,;ALKBH3,missense_variant,p.Asn53Tyr,ENST00000532129,;ALKBH3,missense_variant,p.Asn182Tyr,ENST00000529366,;ALKBH3,downstream_gene_variant,,ENST00000378840,;ALKBH3,intron_variant,,ENST00000532410,;ALKBH3,downstream_gene_variant,,ENST00000533200,;ALKBH3,3_prime_UTR_variant,,ENST00000532962,;ALKBH3,3_prime_UTR_variant,,ENST00000530803,;ALKBH3,non_coding_transcript_exon_variant,,ENST00000530754,;ALKBH3,downstream_gene_variant,,ENST00000534171,;SEC14L1P1,downstream_gene_variant,,ENST00000534767,;	958	98	63	SUCCESS
CTNND1	1500	.	GRCh37	11	57569523	57569523	+	synonymous_variant	Silent	SNP	C	C	T	rs759069892	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	121	0	ENST00000399050.4:c.1275C>T	p.His425=	p.H425=	ENST00000399050	NM_001085458.1	425	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS44604.1	1275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACCTTGG	NONE	byFrequency	.	PROSITE_profiles:PS50176,hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000382004	.	7/21	.	.	.	.	.	.	.	.	rs759069892	7/21	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,synonymous_variant,p.%3D,ENST00000533189,;CTNND1,synonymous_variant,p.%3D,ENST00000361796,;CTNND1,synonymous_variant,p.%3D,ENST00000532787,;CTNND1,synonymous_variant,p.%3D,ENST00000526357,;CTNND1,synonymous_variant,p.%3D,ENST00000428599,;CTNND1,synonymous_variant,p.%3D,ENST00000533667,;CTNND1,synonymous_variant,p.%3D,ENST00000532649,;CTNND1,synonymous_variant,p.%3D,ENST00000528232,;CTNND1,synonymous_variant,p.%3D,ENST00000529919,;CTNND1,synonymous_variant,p.%3D,ENST00000529873,;CTNND1,synonymous_variant,p.%3D,ENST00000532844,;CTNND1,synonymous_variant,p.%3D,ENST00000531014,;CTNND1,synonymous_variant,p.%3D,ENST00000532463,;CTNND1,synonymous_variant,p.%3D,ENST00000415361,;CTNND1,synonymous_variant,p.%3D,ENST00000530094,;CTNND1,synonymous_variant,p.%3D,ENST00000529986,;CTNND1,synonymous_variant,p.%3D,ENST00000527467,;CTNND1,synonymous_variant,p.%3D,ENST00000532245,;CTNND1,synonymous_variant,p.%3D,ENST00000530748,;CTNND1,synonymous_variant,p.%3D,ENST00000528621,;CTNND1,synonymous_variant,p.%3D,ENST00000361391,;CTNND1,synonymous_variant,p.%3D,ENST00000399050,;CTNND1,synonymous_variant,p.%3D,ENST00000534579,;CTNND1,synonymous_variant,p.%3D,ENST00000526938,;CTNND1,synonymous_variant,p.%3D,ENST00000529526,;CTNND1,synonymous_variant,p.%3D,ENST00000399039,;CTNND1,synonymous_variant,p.%3D,ENST00000360682,;CTNND1,synonymous_variant,p.%3D,ENST00000524630,;CTNND1,synonymous_variant,p.%3D,ENST00000358694,;CTNND1,synonymous_variant,p.%3D,ENST00000426142,;CTNND1,synonymous_variant,p.%3D,ENST00000526772,;CTNND1,synonymous_variant,p.%3D,ENST00000361332,;CTNND1,synonymous_variant,p.%3D,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000534647,;CTNND1,non_coding_transcript_exon_variant,,ENST00000527599,;CTNND1,upstream_gene_variant,,ENST00000530720,;	1811	121	74	SUCCESS
MS4A2	2206	.	GRCh37	11	59856205	59856205	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	62	0	ENST00000278888.3:c.-34T>C		p.*12*	ENST00000278888	NM_000139.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7980.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATATTCTTT	NONE	.	.	.	.	.	ENSP00000278888	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,5_prime_UTR_variant,,ENST00000278888,;MS4A2,intron_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	69	62	36	SUCCESS
C11orf95	0	.	GRCh37	11	63533331	63533331	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs768952540	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	44	0	ENST00000433688.1:n.604A>G		p.*202*	ENST00000433688				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|VARSCANS	.	TCCTCTTCTTC	NONE	.	.	.	.	.	.	.	2/5	.	.	.	.	.	.	.	.	rs768952540	2/5	PASS	ENST00000433688	Transcript	.	.	ENSG00000188070	28449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	C11orf95	HGNC	.	.	.	SNV	C11orf95,non_coding_transcript_exon_variant,,ENST00000458348,;C11orf95,non_coding_transcript_exon_variant,,ENST00000338498,;C11orf95,non_coding_transcript_exon_variant,,ENST00000445014,;C11orf95,non_coding_transcript_exon_variant,,ENST00000433688,;RP11-466C23.4,downstream_gene_variant,,ENST00000546282,;	604	44	25	SUCCESS
GAL3ST3	89792	.	GRCh37	11	65810617	65810617	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	44	0	ENST00000312006.4:c.657C>T	p.Asp219=	p.D219=	ENST00000312006	NM_033036.2	219	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS8128.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCGTCGCG	BUFFER|p.A221D|c.662C>A|6	.	.	Pfam_domain:PF06990,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF1	.	.	ENSP00000308591	.	3/3	.	.	.	.	.	.	.	.	COSM1253026	3/3	PASS	ENST00000312006	Transcript	.	.	ENSG00000175229	24144	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	G3ST3_HUMAN	GAL3ST3	HGNC	.	.	UPI0000071842	SNV	GAL3ST3,synonymous_variant,p.%3D,ENST00000527878,;GAL3ST3,synonymous_variant,p.%3D,ENST00000312006,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	939	44	33	SUCCESS
ZNF214	7761	.	GRCh37	11	7021165	7021165	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	100	0	ENST00000278314.4:c.1749A>C	p.Lys583Asn	p.K583N	ENST00000278314	NM_013249.2	583	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS31418.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCATTTGTA	NONE	.	.	hmmpanther:PTHR24402:SF54,hmmpanther:PTHR24402,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000278314	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000278314	Transcript	.	.	ENSG00000149050	13006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.712)	.	deleterious(0)	.	ZN214_HUMAN	ZNF214	HGNC	.	.	UPI000013DB6B	SNV	ZNF214,missense_variant,p.Lys583Asn,ENST00000536068,;ZNF214,missense_variant,p.Lys583Asn,ENST00000278314,;ZNF214,downstream_gene_variant,,ENST00000531083,;	2065	100	59	SUCCESS
GRM5	2915	.	GRCh37	11	88583097	88583097	+	synonymous_variant	Silent	SNP	C	C	T	rs778245409	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	70	176	0	ENST00000305447.4:c.888G>A	p.Ala296=	p.A296=	ENST00000305447	NM_001143831.2	296	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44694.1	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCCGCTAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24060:SF30,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000402912	.	3/10	.	.	.	.	.	.	.	.	rs778245409,COSM1357632,COSM1357631	3/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,synonymous_variant,p.%3D,ENST00000305447,;GRM5,synonymous_variant,p.%3D,ENST00000393297,;GRM5,synonymous_variant,p.%3D,ENST00000305432,;GRM5,synonymous_variant,p.%3D,ENST00000418177,;GRM5,synonymous_variant,p.%3D,ENST00000455756,;	1256	176	129	SUCCESS
TENC1	0	.	GRCh37	12	53457144	53457144	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201129709	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	54	108	0	ENST00000314250.6:c.4004G>A	p.Arg1335His	p.R1335H	ENST00000314250	NM_170754.2	1335	cGc/cAc	0	.	A:0	.	A:0.0014	.	A	R/H	protein_coding	YES	CCDS8842.1	4034	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGCCGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21,Gene3D:2.30.29.30,Pfam_domain:PF08416,SMART_domains:SM00462,Superfamily_domains:SSF50729	A:0	.	ENSP00000319756	A:0	27/29	.	.	.	.	.	.	.	.	rs201129709,COSM3954898,COSM3954897	27/29	PASS	ENST00000314276	Transcript	.	A:0.0002	ENSG00000111077	19737	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.05)	A:0	deleterious(0.02)	0,1,1	TENC1_HUMAN	TENC1	HGNC	.	.	UPI000013F790	SNV	TENC1,missense_variant,p.Arg1211His,ENST00000379902,;TENC1,missense_variant,p.Arg1238His,ENST00000546602,;TENC1,missense_variant,p.Arg1270His,ENST00000549700,;TENC1,missense_variant,p.Arg1345His,ENST00000314276,;TENC1,missense_variant,p.Arg1325His,ENST00000451358,;TENC1,missense_variant,p.Arg1335His,ENST00000314250,;TENC1,missense_variant,p.Arg1333His,ENST00000552570,;TENC1,downstream_gene_variant,,ENST00000602335,;SPRYD3,downstream_gene_variant,,ENST00000547837,;SPRYD3,downstream_gene_variant,,ENST00000301463,;TENC1,non_coding_transcript_exon_variant,,ENST00000552168,;TENC1,non_coding_transcript_exon_variant,,ENST00000550048,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;SPRYD3,downstream_gene_variant,,ENST00000550564,;TENC1,downstream_gene_variant,,ENST00000551583,;TENC1,downstream_gene_variant,,ENST00000550660,;TENC1,downstream_gene_variant,,ENST00000549789,;SPRYD3,downstream_gene_variant,,ENST00000537540,;TENC1,downstream_gene_variant,,ENST00000546772,;SPRYD3,downstream_gene_variant,,ENST00000547257,;TENC1,downstream_gene_variant,,ENST00000547223,;TENC1,downstream_gene_variant,,ENST00000546759,;	4229	108	125	SUCCESS
PPP1R1A	5502	.	GRCh37	12	54975806	54975806	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	58	0	ENST00000257905.8:c.357A>G	p.Pro119=	p.P119=	ENST00000257905	NM_006741.3	119	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44912.1	357	RADIA|VARSCANS	.	GTGTCTGGGAT	NONE	.	.	Pfam_domain:PF05395,hmmpanther:PTHR15417,hmmpanther:PTHR15417:SF3	.	.	ENSP00000257905	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000257905	Transcript	.	.	ENSG00000135447	9286	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR1A_HUMAN	PPP1R1A	HGNC	.	.	UPI0000229454	SNV	PPP1R1A,synonymous_variant,p.%3D,ENST00000257905,;PPP1R1A,intron_variant,,ENST00000553113,;PPP1R1A,intron_variant,,ENST00000547431,;PDE1B,downstream_gene_variant,,ENST00000538346,;PDE1B,downstream_gene_variant,,ENST00000550620,;PDE1B,downstream_gene_variant,,ENST00000243052,;PDE1B,downstream_gene_variant,,ENST00000394277,;PDE1B,downstream_gene_variant,,ENST00000542335,;PPP1R1A,3_prime_UTR_variant,,ENST00000547826,;PDE1B,downstream_gene_variant,,ENST00000552774,;PDE1B,downstream_gene_variant,,ENST00000550285,;	528	58	43	SUCCESS
ANKRD52	283373	.	GRCh37	12	56648360	56648360	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	49	0	ENST00000267116.7:c.693+2T>C		p.X231_splice	ENST00000267116	NM_173595.3	231		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44920.1	.	RADIA|VARSCANS	.	CCCTGACCTCC	NONE	.	.	.	.	.	ENSP00000267116	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267116	Transcript	.	.	ENSG00000139645	26614	.	.	HIGH	7/27	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANR52_HUMAN	ANKRD52	HGNC	.	.	UPI0000237861	SNV	ANKRD52,splice_donor_variant,,ENST00000267116,;ANKRD52,intron_variant,,ENST00000551023,;ANKRD52,splice_donor_variant,,ENST00000548081,;	.	49	40	SUCCESS
LRP1	4035	.	GRCh37	12	57556190	57556190	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	92	0	ENST00000243077.3:c.2293G>T	p.Val765Phe	p.V765F	ENST00000243077	NM_002332.2	765	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS8932.1	2293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGTCTAC	NONE	.	.	hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	14/89	.	.	.	.	.	.	.	.	.	14/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.282)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Val765Phe,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000556830,;	2759	92	65	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049572	36049572	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771150876	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	16	46	0	ENST00000379919.4:c.704C>T	p.Ala235Val	p.A235V	ENST00000379919	NM_005584.4	235	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9353.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGCGAAC	NONE	byFrequency	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	rs771150876	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.5)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Ala235Val,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1261	46	19	SUCCESS
NYNRIN	57523	.	GRCh37	14	24884257	24884257	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768638091	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	79	0	ENST00000382554.3:c.3302T>C	p.Met1101Thr	p.M1101T	ENST00000382554	NM_025081.2	1101	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS45090.1	3302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATGGACT	NONE	.	.	Superfamily_domains:SSF56672,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	9/9	.	.	.	.	.	.	.	.	rs768638091	9/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.04)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Met1101Thr,ENST00000382554,;NYNRIN,downstream_gene_variant,,ENST00000554505,;	3620	80	69	SUCCESS
AREL1	9870	.	GRCh37	14	75140804	75140804	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	94	0	ENST00000356357.4:c.1091T>A	p.Val364Glu	p.V364E	ENST00000356357	NM_001039479.1	364	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS41971.1	1091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCACTGAG	NONE	.	.	hmmpanther:PTHR11254:SF284,hmmpanther:PTHR11254	.	.	ENSP00000348714	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000356357	Transcript	.	.	ENSG00000119682	20363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	deleterious(0)	.	AREL1_HUMAN	AREL1	HGNC	H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN	.	UPI0000073D44	SNV	AREL1,missense_variant,p.Val98Glu,ENST00000490805,;AREL1,missense_variant,p.Val364Glu,ENST00000356357,;AREL1,missense_variant,p.Val203Glu,ENST00000556202,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,missense_variant,p.Val8Glu,ENST00000481010,;AREL1,missense_variant,p.Val364Glu,ENST00000555330,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;AREL1,non_coding_transcript_exon_variant,,ENST00000556327,;AREL1,downstream_gene_variant,,ENST00000553279,;AREL1,downstream_gene_variant,,ENST00000553411,;	1607	94	48	SUCCESS
LINC00521	0	.	GRCh37	14	94467500	94467500	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	29	77	0	ENST00000444118.1:n.578G>T		p.*193*	ENST00000444118				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGGATGGG	NONE	.	.	.	.	.	.	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000444118	Transcript	.	.	ENSG00000175699	19860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00521	HGNC	.	.	.	SNV	LINC00521,non_coding_transcript_exon_variant,,ENST00000314629,;LINC00521,non_coding_transcript_exon_variant,,ENST00000444118,;LINC00521,non_coding_transcript_exon_variant,,ENST00000359253,;LINC00521,non_coding_transcript_exon_variant,,ENST00000422540,;LINC00521,non_coding_transcript_exon_variant,,ENST00000455802,;LINC00521,downstream_gene_variant,,ENST00000449472,;	578	77	36	SUCCESS
ATG2B	55102	.	GRCh37	14	96795907	96795907	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs772743485	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	49	152	0	ENST00000359933.4:c.1795A>C	p.Ser599Arg	p.S599R	ENST00000359933	NM_018036.5	599	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS9944.2	1795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACTAAAAT	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	12/42	.	.	.	.	.	.	.	.	rs772743485	12/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	tolerated(0.06)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Ser599Arg,ENST00000359933,;	2689	152	80	SUCCESS
ACTC1	70	.	GRCh37	15	35085586	35085586	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1368192263	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	58	145	0	ENST00000290378.4:c.314C>T	p.Thr105Ile	p.T105I	ENST00000290378	NM_005159.4	105	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10041.1	314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGTGGGG	NONE	.	.	hmmpanther:PTHR11937:SF176,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000290378	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000290378	Transcript	1	.	ENSG00000159251	143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated_low_confidence(0.23)	.	ACTC_HUMAN	ACTC1	HGNC	B3KPP5_HUMAN	.	UPI0000003F15	SNV	ACTC1,missense_variant,p.Thr105Ile,ENST00000290378,;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,upstream_gene_variant,,ENST00000557860,;ACTC1,upstream_gene_variant,,ENST00000560563,;	970	145	83	SUCCESS
PPIP5K1	9677	.	GRCh37	15	43827486	43827486	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	79	235	0	ENST00000396923.3:c.3688G>C	p.Glu1230Gln	p.E1230Q	ENST00000396923		1230	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS45252.1	3688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCCCCTT	NONE	.	.	hmmpanther:PTHR12750,hmmpanther:PTHR12750:SF11	.	.	ENSP00000400887	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000420765	Transcript	.	.	ENSG00000168781	29023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.56)	.	VIP1_HUMAN	PPIP5K1	HGNC	C9JZX6_HUMAN,C9J5E6_HUMAN,C9J490_HUMAN	.	UPI00001CE036	SNV	PPIP5K1,missense_variant,p.Glu1230Gln,ENST00000396923,;PPIP5K1,missense_variant,p.Glu1205Gln,ENST00000360301,;PPIP5K1,missense_variant,p.Glu1226Gln,ENST00000381885,;PPIP5K1,missense_variant,p.Glu1206Gln,ENST00000381879,;PPIP5K1,missense_variant,p.Glu1230Gln,ENST00000420765,;PPIP5K1,missense_variant,p.Glu1203Gln,ENST00000348806,;PPIP5K1,missense_variant,p.Glu1203Gln,ENST00000360135,;PPIP5K1,missense_variant,p.Glu1205Gln,ENST00000334933,;MAP1A,downstream_gene_variant,,ENST00000300231,;MAP1A,downstream_gene_variant,,ENST00000382031,;MAP1A,downstream_gene_variant,,ENST00000399453,;	3871	235	194	SUCCESS
RHBDF1	64285	.	GRCh37	16	111695	111695	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	42	0	ENST00000262316.6:c.1209-1G>A		p.X403_splice	ENST00000262316	NM_022450.3	403		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32344.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCCTGCGG	NONE	.	.	.	.	.	ENSP00000262316	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262316	Transcript	.	.	ENSG00000007384	20561	.	.	HIGH	8/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHDF1_HUMAN	RHBDF1	HGNC	A2IDA2_HUMAN	.	UPI00001A5206	SNV	RHBDF1,splice_acceptor_variant,,ENST00000454039,;RHBDF1,splice_acceptor_variant,,ENST00000262316,;SNRNP25,downstream_gene_variant,,ENST00000383018,;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000419764,;RHBDF1,downstream_gene_variant,,ENST00000450643,;SNRNP25,downstream_gene_variant,,ENST00000293861,;RHBDF1,splice_acceptor_variant,,ENST00000428730,;RHBDF1,splice_acceptor_variant,,ENST00000482904,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,upstream_gene_variant,,ENST00000493647,;SNRNP25,downstream_gene_variant,,ENST00000397876,;SNRNP25,downstream_gene_variant,,ENST00000481947,;RHBDF1,downstream_gene_variant,,ENST00000417043,;RHBDF1,upstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000472390,;SNRNP25,downstream_gene_variant,,ENST00000466183,;	.	42	41	SUCCESS
PKD1	5310	.	GRCh37	16	2149979	2149979	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs550467690	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	62	156	1	ENST00000262304.4:c.9806G>T	p.Arg3269Leu	p.R3269L	ENST00000262304	NM_001009944.2	3269	cGg/cTg	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS32369.1	9806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCGGTCC	NONE	by1000G	.	hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877	T:0	.	ENSP00000262304	T:0.001	29/46	.	.	.	.	.	.	.	.	rs550467690	29/46	PASS	ENST00000262304	Transcript	.	T:0.0002	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	T:0	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Arg3269Leu,ENST00000262304,;PKD1,missense_variant,p.Arg470Leu,ENST00000567946,;PKD1,missense_variant,p.Arg3269Leu,ENST00000423118,;RP11-304L19.1,downstream_gene_variant,,ENST00000570072,;RP11-304L19.3,upstream_gene_variant,,ENST00000565937,;RP11-304L19.1,downstream_gene_variant,,ENST00000563284,;PKD1,non_coding_transcript_exon_variant,,ENST00000570193,;PKD1,non_coding_transcript_exon_variant,,ENST00000566905,;PKD1,upstream_gene_variant,,ENST00000566784,;PKD1,downstream_gene_variant,,ENST00000561991,;PKD1,downstream_gene_variant,,ENST00000475889,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,non_coding_transcript_exon_variant,,ENST00000415938,;PKD1,non_coding_transcript_exon_variant,,ENST00000486339,;PKD1,non_coding_transcript_exon_variant,,ENST00000496574,;PKD1,non_coding_transcript_exon_variant,,ENST00000570253,;PKD1,non_coding_transcript_exon_variant,,ENST00000562297,;PKD1,non_coding_transcript_exon_variant,,ENST00000483731,;PKD1,non_coding_transcript_exon_variant,,ENST00000480227,;PKD1,non_coding_transcript_exon_variant,,ENST00000469851,;PKD1,non_coding_transcript_exon_variant,,ENST00000471603,;PKD1,downstream_gene_variant,,ENST00000565639,;PKD1,downstream_gene_variant,,ENST00000483814,;PKD1,downstream_gene_variant,,ENST00000474088,;	10015	157	137	SUCCESS
KIF22	3835	.	GRCh37	16	29816332	29816332	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752878228	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	12	0	ENST00000160827.4:c.1875C>A	p.His625Gln	p.H625Q	ENST00000160827	NM_001256269.1	625	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS10653.1	1875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGGCCC	NONE	.	.	hmmpanther:PTHR24115:SF171,hmmpanther:PTHR24115,Pfam_domain:PF12836,Gene3D:3arcU01,Superfamily_domains:SSF47781	.	.	ENSP00000160827	.	12/14	.	.	.	.	.	.	.	.	rs752878228	12/14	PASS	ENST00000160827	Transcript	.	.	ENSG00000079616	6391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	KIF22_HUMAN	KIF22	HGNC	Q14985_HUMAN,H3BTH5_HUMAN,H3BQB9_HUMAN	.	UPI00000012C0	SNV	KIF22,missense_variant,p.His571Gln,ENST00000569382,;KIF22,missense_variant,p.His557Gln,ENST00000561482,;KIF22,missense_variant,p.His557Gln,ENST00000400751,;KIF22,missense_variant,p.His625Gln,ENST00000160827,;MAZ,upstream_gene_variant,,ENST00000562594,;MAZ,upstream_gene_variant,,ENST00000545521,;MAZ,upstream_gene_variant,,ENST00000566906,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000568544,;MAZ,upstream_gene_variant,,ENST00000563012,;KIF22,downstream_gene_variant,,ENST00000400750,;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000219782,;MAZ,upstream_gene_variant,,ENST00000562337,;MAZ,upstream_gene_variant,,ENST00000563402,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000567444,;MAZ,upstream_gene_variant,,ENST00000322945,;AC009133.20,downstream_gene_variant,,ENST00000569039,;AC009133.15,downstream_gene_variant,,ENST00000566537,;AC009133.14,downstream_gene_variant,,ENST00000569981,;AC009133.14,downstream_gene_variant,,ENST00000563806,;KIF22,downstream_gene_variant,,ENST00000563263,;KIF22,3_prime_UTR_variant,,ENST00000568312,;KIF22,non_coding_transcript_exon_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000563666,;MAZ,upstream_gene_variant,,ENST00000565777,;	1915	12	15	SUCCESS
ASPHD1	253982	.	GRCh37	16	29912566	29912566	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	85	0	ENST00000308748.5:c.274C>T	p.Leu92Phe	p.L92F	ENST00000308748	NM_181718.3	92	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS10660.1	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCTCTGG	NONE	.	.	hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF3	.	.	ENSP00000311447	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308748	Transcript	.	.	ENSG00000174939	27380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	ASPH1_HUMAN	ASPHD1	HGNC	I3L2Y2_HUMAN,I3L2A5_HUMAN	.	UPI0000197DF0	SNV	ASPHD1,missense_variant,p.Leu92Phe,ENST00000308748,;ASPHD1,intron_variant,,ENST00000483405,;ASPHD1,intron_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,;SEZ6L2,upstream_gene_variant,,ENST00000346932,;SEZ6L2,upstream_gene_variant,,ENST00000537485,;SEZ6L2,upstream_gene_variant,,ENST00000350527,;SEZ6L2,upstream_gene_variant,,ENST00000568380,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,missense_variant,p.Leu92Phe,ENST00000566693,;ASPHD1,missense_variant,p.Leu92Phe,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000308768,;	526	85	104	SUCCESS
GPR114	0	.	GRCh37	16	57596061	57596061	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	64	0	ENST00000340339.4:c.56C>T	p.Ala19Val	p.A19V	ENST00000340339	NM_153837.1	19	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10785.1	56	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCAACAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000342981	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000340339	Transcript	.	.	ENSG00000159618	19010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	GP114_HUMAN	GPR114	HGNC	.	.	UPI0000039944	SNV	GPR114,missense_variant,p.Ala19Val,ENST00000340339,;GPR114,missense_variant,p.Ala19Val,ENST00000349457,;GPR114,non_coding_transcript_exon_variant,,ENST00000394361,;GPR114,non_coding_transcript_exon_variant,,ENST00000564607,;GPR114,non_coding_transcript_exon_variant,,ENST00000564983,;	579	64	41	SUCCESS
PKD1L3	342372	.	GRCh37	16	71963537	71963537	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	55	166	0	ENST00000534738.1:n.5099T>A		p.*1700*	ENST00000534738				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59271.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAATTTGA	NONE	.	1661	.	.	.	ENSP00000438399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535424	Transcript	.	.	ENSG00000182149	28977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IST1_HUMAN	IST1	HGNC	J3QLU7_HUMAN,H3BUI0_HUMAN,H3BRE2_HUMAN,H3BQF7_HUMAN,H3BQ38_HUMAN,H3BPP6_HUMAN,H3BMU1_HUMAN,B4DXC9_HUMAN,B4DLP1_HUMAN	.	UPI00001FF5EB	SNV	IST1,downstream_gene_variant,,ENST00000538850,;IST1,downstream_gene_variant,,ENST00000378799,;IST1,downstream_gene_variant,,ENST00000541571,;IST1,downstream_gene_variant,,ENST00000544564,;IST1,downstream_gene_variant,,ENST00000456820,;IST1,downstream_gene_variant,,ENST00000606369,;IST1,downstream_gene_variant,,ENST00000535424,;IST1,downstream_gene_variant,,ENST00000378798,;IST1,downstream_gene_variant,,ENST00000329908,;RP11-498D10.5,upstream_gene_variant,,ENST00000567146,;RP11-498D10.6,upstream_gene_variant,,ENST00000573861,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000534738,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000335106,;IST1,downstream_gene_variant,,ENST00000538565,;IST1,downstream_gene_variant,,ENST00000536027,;IST1,downstream_gene_variant,,ENST00000541180,;IST1,downstream_gene_variant,,ENST00000439924,;	.	166	127	SUCCESS
HP	3240	.	GRCh37	16	72090515	72090515	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373168016	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	56	252	0	ENST00000355906.5:c.175C>A	p.Arg59Ser	p.R59S	ENST00000355906	NM_005143.3	59	Cgc/Agc	0	T:0.0003	.	.	.	.	A	R/S	protein_coding	YES	CCDS45524.1	175	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGCGCACA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50923,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF25,Gene3D:2.10.70.10,Superfamily_domains:SSF57535	.	T:0.0001	ENSP00000348170	.	3/7	.	.	.	.	.	.	.	.	rs373168016	3/7	PASS	ENST00000355906	Transcript	.	.	ENSG00000257017	5141	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.54)	.	HPT_HUMAN	HP	HGNC	Q6PEJ8_HUMAN	.	UPI000012CB71	SNV	HP,missense_variant,p.Arg58Ser,ENST00000567185,;HP,missense_variant,p.Arg59Ser,ENST00000398131,;HP,missense_variant,p.Arg59Ser,ENST00000355906,;HP,missense_variant,p.Arg59Ser,ENST00000357763,;HP,missense_variant,p.Arg58Ser,ENST00000576168,;HP,missense_variant,p.Arg59Ser,ENST00000565574,;HP,missense_variant,p.Arg58Ser,ENST00000567612,;HP,intron_variant,,ENST00000569639,;HP,intron_variant,,ENST00000562526,;HPR,intron_variant,,ENST00000356967,;HP,intron_variant,,ENST00000564499,;HP,intron_variant,,ENST00000570083,;HP,intron_variant,,ENST00000568417,;TXNL4B,intron_variant,,ENST00000562153,;HP,non_coding_transcript_exon_variant,,ENST00000561927,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,non_coding_transcript_exon_variant,,ENST00000565807,;HP,non_coding_transcript_exon_variant,,ENST00000562488,;	233	252	185	SUCCESS
ACLY	47	.	GRCh37	17	40024989	40024989	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1447515027	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	21	65	0	ENST00000352035.2:c.3184G>A	p.Val1062Met	p.V1062M	ENST00000352035	NM_001096.2	1062	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS11412.1	3184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCACAAAGA	NONE	.	.	Superfamily_domains:SSF48256,PIRSF_domain:PIRSF036511,Pfam_domain:PF00285,hmmpanther:PTHR23118	.	.	ENSP00000253792	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000352035	Transcript	.	.	ENSG00000131473	115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	deleterious(0)	.	ACLY_HUMAN	ACLY	HGNC	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN	.	UPI000013CDF3	SNV	ACLY,missense_variant,p.Val1052Met,ENST00000353196,;ACLY,missense_variant,p.Val1062Met,ENST00000590151,;ACLY,missense_variant,p.Val1062Met,ENST00000352035,;ACLY,missense_variant,p.Val791Met,ENST00000537919,;ACLY,missense_variant,p.Val1052Met,ENST00000393896,;KLHL11,upstream_gene_variant,,ENST00000319121,;ACLY,non_coding_transcript_exon_variant,,ENST00000588779,;	3315	65	46	SUCCESS
GNGT2	2793	.	GRCh37	17	47284179	47284179	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	56	221	0	ENST00000300406.2:c.150C>T	p.Leu50=	p.L50=	ENST00000300406	NM_001198755.1	50	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11545.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGAGAAA	NONE	.	.	PROSITE_profiles:PS50058,hmmpanther:PTHR13809:SF22,hmmpanther:PTHR13809,Gene3D:4.10.260.10,Pfam_domain:PF00631,SMART_domains:SM00224,Superfamily_domains:SSF48670,Prints_domain:PR00321	.	.	ENSP00000426022	.	4/4	.	.	.	.	.	.	.	.	COSM417470	4/4	PASS	ENST00000511277	Transcript	.	.	ENSG00000167083	4412	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GBGT2_HUMAN	GNGT2	HGNC	.	.	UPI000012B236	SNV	GNGT2,synonymous_variant,p.%3D,ENST00000511673,;GNGT2,synonymous_variant,p.%3D,ENST00000300406,;GNGT2,synonymous_variant,p.%3D,ENST00000511277,;GNGT2,synonymous_variant,p.%3D,ENST00000507680,;GNGT2,synonymous_variant,p.%3D,ENST00000515635,;GNGT2,synonymous_variant,p.%3D,ENST00000503070,;ABI3,upstream_gene_variant,,ENST00000419580,;ABI3,upstream_gene_variant,,ENST00000225941,;	330	222	143	SUCCESS
OR4D2	124538	.	GRCh37	17	56247344	56247344	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	91	0	ENST00000545221.1:c.328G>T	p.Ala110Ser	p.A110S	ENST00000545221	NM_001004707.3	110	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32688.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGCCATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF315,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000441354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000545221	Transcript	.	.	ENSG00000255713	8294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.24)	.	OR4D2_HUMAN	OR4D2	HGNC	.	.	UPI0000000DB3	SNV	OR4D2,missense_variant,p.Ala110Ser,ENST00000545221,;	328	91	51	SUCCESS
DUS1L	64118	.	GRCh37	17	80017940	80017940	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746363915	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	21	109	0	ENST00000306796.5:c.1052G>T	p.Gly351Val	p.G351V	ENST00000306796	NM_022156.4	351	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS32775.1	1052	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCACCTGCC	NONE	byFrequency	.	hmmpanther:PTHR11082:SF5,hmmpanther:PTHR11082	.	.	ENSP00000346280	.	10/13	.	.	.	.	.	.	.	.	rs746363915	10/13	PASS	ENST00000354321	Transcript	.	.	ENSG00000169718	30086	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.09)	.	DUS1L_HUMAN	DUS1L	HGNC	J3QLE4_HUMAN	.	UPI00002004B5	SNV	DUS1L,missense_variant,p.Gly219Val,ENST00000538833,;DUS1L,missense_variant,p.Gly36Val,ENST00000542088,;DUS1L,missense_variant,p.Gly351Val,ENST00000354321,;DUS1L,missense_variant,p.Gly351Val,ENST00000306796,;DUS1L,missense_variant,p.Gly11Val,ENST00000577574,;DUS1L,downstream_gene_variant,,ENST00000578907,;GPS1,downstream_gene_variant,,ENST00000355130,;DUS1L,downstream_gene_variant,,ENST00000578176,;GPS1,downstream_gene_variant,,ENST00000578168,;GPS1,downstream_gene_variant,,ENST00000306823,;GPS1,downstream_gene_variant,,ENST00000392358,;GPS1,downstream_gene_variant,,ENST00000578552,;GPS1,downstream_gene_variant,,ENST00000320548,;DUS1L,downstream_gene_variant,,ENST00000577907,;DUS1L,downstream_gene_variant,,ENST00000582529,;DUS1L,missense_variant,p.Val166Leu,ENST00000580731,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578846,;DUS1L,non_coding_transcript_exon_variant,,ENST00000579854,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578428,;GPS1,downstream_gene_variant,,ENST00000583486,;GPS1,downstream_gene_variant,,ENST00000580141,;GPS1,downstream_gene_variant,,ENST00000392357,;GPS1,downstream_gene_variant,,ENST00000584460,;GPS1,downstream_gene_variant,,ENST00000578279,;DUS1L,downstream_gene_variant,,ENST00000582407,;DUS1L,upstream_gene_variant,,ENST00000584871,;DUS1L,downstream_gene_variant,,ENST00000578264,;	1538	109	121	SUCCESS
ZBTB7C	201501	.	GRCh37	18	45555810	45555810	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775360190	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	26	0	ENST00000535628.2:c.1681C>T	p.Arg561Cys	p.R561C	ENST00000535628	NM_001039360.2	561	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32830.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGCCCGA	NONE	byFrequency	.	hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389	.	.	ENSP00000468782	.	4/4	.	.	.	.	.	.	.	.	rs775360190	4/4	PASS	ENST00000588982	Transcript	.	.	ENSG00000184828	31700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.04)	.	ZBT7C_HUMAN	ZBTB7C	HGNC	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN	.	UPI0000073FE3	SNV	ZBTB7C,missense_variant,p.Arg561Cys,ENST00000590800,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000586438,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000332053,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000588982,;ZBTB7C,missense_variant,p.Arg561Cys,ENST00000535628,;	2183	26	24	SUCCESS
ANKRD12	23253	.	GRCh37	18	9255525	9255525	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	64	0	ENST00000262126.4:c.2260A>T	p.Ile754Phe	p.I754F	ENST00000262126	NM_015208.4	754	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11843.1	2260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGATTAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.14)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Ile754Phe,ENST00000262126,;ANKRD12,missense_variant,p.Ile731Phe,ENST00000383440,;ANKRD12,missense_variant,p.Ile731Phe,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	2500	64	24	SUCCESS
ICAM5	7087	.	GRCh37	19	10404831	10404831	+	synonymous_variant	Silent	SNP	G	G	A	rs771282852	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	54	0	ENST00000221980.4:c.1827G>A	p.Val609=	p.V609=	ENST00000221980	NM_003259.3	609	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12233.1	1827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTGGGCTC	NONE	.	.	hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000221980	.	8/11	.	.	.	.	.	.	.	.	rs771282852	8/11	PASS	ENST00000221980	Transcript	.	.	ENSG00000105376	5348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,synonymous_variant,p.%3D,ENST00000221980,;ICAM5,downstream_gene_variant,,ENST00000587398,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	1890	54	41	SUCCESS
SLC44A2	57153	.	GRCh37	19	10753056	10753056	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	75	283	0	ENST00000335757.5:c.1943G>A	p.Gly648Asp	p.G648D	ENST00000335757		648	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS12245.1	1943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTGGCTCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF34,Pfam_domain:PF04515	.	.	ENSP00000336888	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000335757	Transcript	.	.	ENSG00000129353	17292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	CTL2_HUMAN	SLC44A2	HGNC	B3KX31_HUMAN	.	UPI000013CCAB	SNV	SLC44A2,stop_gained,p.Trp94Ter,ENST00000591194,;SLC44A2,missense_variant,p.Gly648Asp,ENST00000586078,;SLC44A2,missense_variant,p.Gly646Asp,ENST00000407327,;SLC44A2,missense_variant,p.Gly85Asp,ENST00000586549,;SLC44A2,missense_variant,p.Gly648Asp,ENST00000335757,;AC011475.1,downstream_gene_variant,,ENST00000430975,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000588214,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000590475,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000589561,;SLC44A2,downstream_gene_variant,,ENST00000588393,;	2319	283	183	SUCCESS
IL12RB1	3594	.	GRCh37	19	18188364	18188364	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	70	0	ENST00000593993.2:c.511C>T	p.Gln171Ter	p.Q171*	ENST00000593993	NM_005535.1	171	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS54232.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGCACCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51,Gene3D:2.60.40.10	.	.	ENSP00000470788	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000600835	Transcript	1	.	ENSG00000096996	5971	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I12R1_HUMAN	IL12RB1	HGNC	M0R382_HUMAN,M0QX06_HUMAN	.	UPI00000502CE	SNV	IL12RB1,stop_gained,p.Gln171Ter,ENST00000322153,;IL12RB1,stop_gained,p.Gln171Ter,ENST00000593993,;IL12RB1,stop_gained,p.Gln171Ter,ENST00000600835,;IL12RB1,downstream_gene_variant,,ENST00000430026,;IL12RB1,downstream_gene_variant,,ENST00000594176,;IL12RB1,downstream_gene_variant,,ENST00000598019,;	810	70	49	SUCCESS
ZNF682	91120	.	GRCh37	19	20117276	20117276	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	61	0	ENST00000397165.2:c.1035A>G	p.Glu345=	p.E345=	ENST00000397165	NM_033196.2	345	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS42533.1	1035	RADIA|VARSCANS	.	CCACATTCTTC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_profiles:PS50157	.	.	ENSP00000380351	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397165	Transcript	.	.	ENSG00000197124	28857	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN682_HUMAN	ZNF682	HGNC	M0R067_HUMAN	.	UPI000007275A	SNV	ZNF682,synonymous_variant,p.%3D,ENST00000358523,;ZNF682,synonymous_variant,p.%3D,ENST00000397165,;ZNF682,synonymous_variant,p.%3D,ENST00000597972,;ZNF682,synonymous_variant,p.%3D,ENST00000397162,;ZNF682,synonymous_variant,p.%3D,ENST00000595736,;ZNF682,intron_variant,,ENST00000596019,;ZNF682,intron_variant,,ENST00000602079,;ZNF682,intron_variant,,ENST00000594127,;ZNF682,downstream_gene_variant,,ENST00000593468,;ZNF682,downstream_gene_variant,,ENST00000601100,;ZNF682,non_coding_transcript_exon_variant,,ENST00000601365,;ZNF682,downstream_gene_variant,,ENST00000595534,;	1196	61	32	SUCCESS
HAUS5	23354	.	GRCh37	19	36106172	36106172	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	57	0	ENST00000203166.5:c.369G>A	p.Gln123=	p.Q123=	ENST00000203166	NM_015302.1	123	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS42550.1	369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGCGTCG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF14817,Prints_domain:PR02091	.	.	ENSP00000439056	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000203166	Transcript	.	.	ENSG00000249115	29130	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAUS5_HUMAN	HAUS5	HGNC	.	.	UPI0000169F45	SNV	HAUS5,synonymous_variant,p.%3D,ENST00000203166,;HAUS5,synonymous_variant,p.%3D,ENST00000379045,;HAUS5,upstream_gene_variant,,ENST00000590994,;AC002115.9,upstream_gene_variant,,ENST00000589603,;HAUS5,synonymous_variant,p.%3D,ENST00000587439,;HAUS5,3_prime_UTR_variant,,ENST00000592291,;HAUS5,3_prime_UTR_variant,,ENST00000424522,;HAUS5,non_coding_transcript_exon_variant,,ENST00000428854,;HAUS5,non_coding_transcript_exon_variant,,ENST00000585968,;HAUS5,upstream_gene_variant,,ENST00000430749,;HAUS5,downstream_gene_variant,,ENST00000588570,;	394	57	37	SUCCESS
EXOC3L2	90332	.	GRCh37	19	45730995	45730995	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771479393	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	74	1	ENST00000252482.3:c.329C>A	p.Pro110Gln	p.P110Q	ENST00000252482		110	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS12657.1	329	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGGGTTC	NONE	byFrequency	.	Pfam_domain:PF06046,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF7	.	.	ENSP00000400713	.	5/10	.	.	.	.	.	.	.	.	rs771479393	5/10	PASS	ENST00000413988	Transcript	.	.	ENSG00000130201	30162	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	tolerated(0.56)	.	EX3L2_HUMAN	EXOC3L2	HGNC	.	.	UPI000013CD66	SNV	EXOC3L2,missense_variant,p.Pro110Gln,ENST00000252482,;EXOC3L2,missense_variant,p.Pro110Gln,ENST00000413988,;MARK4,intron_variant,,ENST00000587566,;	370	76	74	SUCCESS
PPP2R1A	5518	.	GRCh37	19	52716334	52716334	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	26	0	ENST00000322088.6:c.778C>G	p.Arg260Gly	p.R260G	ENST00000322088	NM_014225.5	260	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS12849.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCCGCTAC	BUFFER|p.S256Y|c.767C>A|5,BUFFER|p.S256F|c.767C>T|12,BUFFER|p.W257G|c.769T>G|3,BUFFER|p.W257C|c.771G>T|6,BUFFER|p.R258H|c.773G>A|9	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Pfam_domain:PF13646,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000324804	.	6/15	.	.	.	.	.	.	.	.	COSM78335	6/15	PASS	ENST00000322088	Transcript	1	.	ENSG00000105568	9302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	2AAA_HUMAN	PPP2R1A	HGNC	B4DDF7_HUMAN,B3KQV6_HUMAN,A8K7B7_HUMAN	.	UPI000006EB9C	SNV	PPP2R1A,missense_variant,p.Arg300Gly,ENST00000454220,;PPP2R1A,missense_variant,p.Arg205Gly,ENST00000444322,;PPP2R1A,missense_variant,p.Arg260Gly,ENST00000322088,;PPP2R1A,missense_variant,p.Arg81Gly,ENST00000462990,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,downstream_gene_variant,,ENST00000473455,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473820,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000462047,;PPP2R1A,downstream_gene_variant,,ENST00000490868,;PPP2R1A,downstream_gene_variant,,ENST00000468280,;	836	26	23	SUCCESS
EMR1	0	.	GRCh37	19	6919616	6919616	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747164531	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	54	178	0	ENST00000312053.4:c.1478G>A	p.Arg493His	p.R493H	ENST00000312053	NM_001974.4	493	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12175.1	1478	RADIA|MUTECT|MUSE	.	TGAGCGCTTCT	NONE	byFrequency	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207	.	.	ENSP00000311545	.	13/21	.	.	.	.	.	.	.	.	rs747164531,COSM335497	13/21	PASS	ENST00000312053	Transcript	.	.	ENSG00000174837	3336	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.008)	.	tolerated(0.13)	0,1	EMR1_HUMAN	EMR1	HGNC	.	.	UPI0000203241	SNV	EMR1,missense_variant,p.Arg441His,ENST00000381404,;EMR1,missense_variant,p.Arg352His,ENST00000381407,;EMR1,missense_variant,p.Arg316His,ENST00000450315,;EMR1,missense_variant,p.Arg493His,ENST00000250572,;EMR1,missense_variant,p.Arg493His,ENST00000312053,;	1515	179	120	SUCCESS
COL11A1	1301	.	GRCh37	1	103461593	103461593	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	16	80	0	ENST00000370096.3:c.2247C>T	p.Pro749=	p.P749=	ENST00000370096	NM_001854.3	749	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS778.1	2247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGGACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	27/67	.	.	.	.	.	.	.	.	.	27/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;COL11A1,downstream_gene_variant,,ENST00000461720,;	2560	80	18	SUCCESS
PRAMEF2	65122	.	GRCh37	1	12920107	12920107	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1254108445	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	88	0	ENST00000240189.2:c.847C>T	p.His283Tyr	p.H283Y	ENST00000240189	NM_023014.1	283	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS149.1	847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCACCTG	NONE	.	.	hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000240189	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000240189	Transcript	.	.	ENSG00000120952	28841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.66)	.	PRAM2_HUMAN	PRAMEF2	HGNC	.	.	UPI0000139EF9	SNV	PRAMEF2,missense_variant,p.His283Tyr,ENST00000240189,;	934	88	55	SUCCESS
FLG	2312	.	GRCh37	1	152280175	152280175	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	63	233	1	ENST00000368799.1:c.7187A>G	p.His2396Arg	p.H2396R	ENST00000368799	NM_002016.1	2396	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS30860.1	7187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTGGCTC	BUFFER|p.E2398Q|c.7192G>C|3	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.His2396Arg,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7223	234	198	SUCCESS
VANGL2	57216	.	GRCh37	1	160388869	160388869	+	synonymous_variant	Silent	SNP	C	C	T	rs1221733297	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	61	0	ENST00000368061.2:c.270C>T	p.Arg90=	p.R90=	ENST00000368061	NM_020335.2	90	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30915.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGCATCGC	NONE	.	.	hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10,Pfam_domain:PF06638,PIRSF_domain:PIRSF007991	.	.	ENSP00000357040	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000368061	Transcript	.	.	ENSG00000162738	15511	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VANG2_HUMAN	VANGL2	HGNC	.	.	UPI00001C1D79	SNV	VANGL2,synonymous_variant,p.%3D,ENST00000368061,;VANGL2,upstream_gene_variant,,ENST00000483408,;	744	61	104	SUCCESS
SPEN	23013	.	GRCh37	1	16257658	16257658	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	61	0	ENST00000375759.3:c.4923T>G	p.Ser1641Arg	p.S1641R	ENST00000375759	NM_015001.2	1641	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS164.1	4923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGTGTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Ser1641Arg,ENST00000375759,;	5127	61	54	SUCCESS
SLC19A2	10560	.	GRCh37	1	169446920	169446920	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	48	129	1	ENST00000236137.5:c.280T>C	p.Tyr94His	p.Y94H	ENST00000236137	NM_006996.2	94	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS1280.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAGTCTG	NONE	.	.	Superfamily_domains:SSF103473,PIRSF_domain:PIRSF500794,PIRSF_domain:PIRSF028739,Pfam_domain:PF01770,hmmpanther:PTHR10686:SF13,hmmpanther:PTHR10686	.	.	ENSP00000236137	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000236137	Transcript	.	.	ENSG00000117479	10938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	S19A2_HUMAN	SLC19A2	HGNC	.	.	UPI0000036177	SNV	SLC19A2,missense_variant,p.Tyr94His,ENST00000236137,;SLC19A2,intron_variant,,ENST00000367804,;RP1-206D15.5,upstream_gene_variant,,ENST00000452472,;	517	131	160	SUCCESS
FAM20B	9917	.	GRCh37	1	179013021	179013021	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	71	116	0	ENST00000263733.4:c.39C>T	p.Leu13=	p.L13=	ENST00000263733	NM_014864.3	13	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1328.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTCCTTGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12450	.	.	ENSP00000263733	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000263733	Transcript	.	.	ENSG00000116199	23017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XYLK_HUMAN	FAM20B	HGNC	.	.	UPI000000DB7F	SNV	FAM20B,synonymous_variant,p.%3D,ENST00000440702,;FAM20B,synonymous_variant,p.%3D,ENST00000263733,;	375	116	194	SUCCESS
KIF21B	23046	.	GRCh37	1	200960199	200960199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	43	109	0	ENST00000422435.2:c.2533G>T	p.Asp845Tyr	p.D845Y	ENST00000422435	NM_001252100.1	845	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS58056.1	2533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTCCAGCA	NONE	.	.	hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115	.	.	ENSP00000411831	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,missense_variant,p.Asp845Tyr,ENST00000422435,;KIF21B,missense_variant,p.Asp845Tyr,ENST00000360529,;KIF21B,missense_variant,p.Asp845Tyr,ENST00000461742,;KIF21B,missense_variant,p.Asp845Tyr,ENST00000332129,;	2850	109	158	SUCCESS
PPFIA4	8497	.	GRCh37	1	203020717	203020717	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	13	0	ENST00000447715.2:c.1524-180G>A		p.*508*	ENST00000447715				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44296.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGGCAT	NONE	.	.	.	.	.	ENSP00000272198	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000272198	Transcript	.	.	ENSG00000143847	9248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPA4_HUMAN	PPFIA4	HGNC	.	.	UPI00001C0CC6	SNV	PPFIA4,5_prime_UTR_variant,,ENST00000599966,;PPFIA4,5_prime_UTR_variant,,ENST00000272198,;PPFIA4,intron_variant,,ENST00000414050,;PPFIA4,intron_variant,,ENST00000295706,;PPFIA4,intron_variant,,ENST00000367240,;PPFIA4,intron_variant,,ENST00000600426,;PPFIA4,intron_variant,,ENST00000447715,;PPFIA4,upstream_gene_variant,,ENST00000599514,;PPFIA4,upstream_gene_variant,,ENST00000600447,;	407	13	19	SUCCESS
RBBP5	5929	.	GRCh37	1	205084043	205084043	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	108	179	0	ENST00000264515.6:c.92C>T	p.Thr31Ile	p.T31I	ENST00000264515	NM_001193273.1	31	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS30983.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGGTGCAA	NONE	.	.	hmmpanther:PTHR12816,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF117289	.	.	ENSP00000264515	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000264515	Transcript	.	.	ENSG00000117222	9888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.425)	.	tolerated(0.08)	.	RBBP5_HUMAN	RBBP5	HGNC	.	.	UPI00001A9CA5	SNV	RBBP5,missense_variant,p.Thr31Ile,ENST00000264515,;RBBP5,missense_variant,p.Thr31Ile,ENST00000367164,;RBBP5,non_coding_transcript_exon_variant,,ENST00000484379,;	234	179	336	SUCCESS
PTPN14	5784	.	GRCh37	1	214557484	214557484	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200947677	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	49	0	ENST00000366956.5:c.1714C>T	p.Arg572Trp	p.R572W	ENST00000366956	NM_005401.4	572	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS1514.1	1714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGTGGGT	NONE	byCluster	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000934,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77	.	A:0.0001	ENSP00000355923	.	13/19	.	.	.	.	.	.	.	.	rs200947677,COSM1338738	13/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.386)	.	tolerated(0.17)	0,1	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Arg572Trp,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	1909	49	50	SUCCESS
ZNF695	57116	.	GRCh37	1	247162655	247162655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	79	275	0	ENST00000339986.7:c.254A>G	p.His85Arg	p.H85R	ENST00000339986	NM_020394.4	85	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS44344.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGTGTCTG	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,PROSITE_profiles:PS50805	.	.	ENSP00000341236	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000339986	Transcript	.	.	ENSG00000197472	30954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.21)	.	ZN695_HUMAN	ZNF695	HGNC	.	.	UPI0000F734A8	SNV	ZNF695,missense_variant,p.His85Arg,ENST00000339986,;ZNF695,missense_variant,p.His85Arg,ENST00000487338,;ZNF695,intron_variant,,ENST00000498046,;ZNF695,missense_variant,p.His85Arg,ENST00000366504,;ZNF695,missense_variant,p.His73Arg,ENST00000479214,;ZNF670,missense_variant,p.His73Arg,ENST00000474541,;ZNF695,missense_variant,p.His85Arg,ENST00000491337,;ZNF670,missense_variant,p.His73Arg,ENST00000465049,;	402	275	184	SUCCESS
PHC2	1912	.	GRCh37	1	33799862	33799862	+	synonymous_variant	Silent	SNP	G	G	A	rs370099521	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	42	88	0	ENST00000257118.5:c.1587C>T	p.Thr529=	p.T529=	ENST00000257118	NM_198040.2	529	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS378.1	1587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGGTCAG	NONE	.	.	hmmpanther:PTHR12247:SF71,hmmpanther:PTHR12247	.	.	ENSP00000257118	.	9/14	.	.	.	.	.	.	.	.	rs370099521	9/14	PASS	ENST00000257118	Transcript	.	.	ENSG00000134686	3183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHC2_HUMAN	PHC2	HGNC	.	.	UPI0000074391	SNV	PHC2,synonymous_variant,p.%3D,ENST00000419414,;PHC2,synonymous_variant,p.%3D,ENST00000431992,;PHC2,synonymous_variant,p.%3D,ENST00000373422,;PHC2,synonymous_variant,p.%3D,ENST00000257118,;PHC2,5_prime_UTR_variant,,ENST00000373418,;PHC2,5_prime_UTR_variant,,ENST00000373416,;MIR3605,upstream_gene_variant,,ENST00000583214,;RN7SKP16,downstream_gene_variant,,ENST00000410180,;PHC2,non_coding_transcript_exon_variant,,ENST00000486897,;PHC2,non_coding_transcript_exon_variant,,ENST00000493483,;PHC2,non_coding_transcript_exon_variant,,ENST00000485928,;PHC2,non_coding_transcript_exon_variant,,ENST00000473158,;PHC2,non_coding_transcript_exon_variant,,ENST00000467894,;	1641	88	91	SUCCESS
WDR65	0	.	GRCh37	1	43649280	43649280	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	36	128	0	ENST00000372492.4:c.493G>C	p.Asp165His	p.D165H	ENST00000372492	NM_001195831.2	165	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS479.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGATAAC	NONE	.	.	hmmpanther:PTHR32215,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:0046204	.	.	ENSP00000435310	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000528956	Transcript	.	.	ENSG00000243710	26485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	WDR65_HUMAN	WDR65	HGNC	E9PRV3_HUMAN	.	UPI000013E331	SNV	WDR65,missense_variant,p.Asp165His,ENST00000529956,;WDR65,missense_variant,p.Asp165His,ENST00000528956,;WDR65,missense_variant,p.Asp165His,ENST00000372492,;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000466927,;WDR65,3_prime_UTR_variant,,ENST00000533339,;WDR65,downstream_gene_variant,,ENST00000525227,;WDR65,upstream_gene_variant,,ENST00000534615,;	639	128	72	SUCCESS
TAL1	6886	.	GRCh37	1	47685719	47685719	+	synonymous_variant	Silent	SNP	G	G	A	rs1430617279	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	204	0	ENST00000294339.3:c.669C>T	p.Leu223=	p.L223=	ENST00000294339	NM_003189.2	223	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS547.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTGAGCTT	NONE	.	.	Superfamily_domains:SSF47459,SMART_domains:SM00353,Pfam_domain:PF00010,Gene3D:4.10.280.10,hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF16,PROSITE_profiles:PS50888	.	.	ENSP00000294339	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000294339	Transcript	.	.	ENSG00000162367	11556	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAL1_HUMAN	TAL1	HGNC	Q9UE36_HUMAN	.	UPI00001368B2	SNV	TAL1,synonymous_variant,p.%3D,ENST00000294339,;TAL1,synonymous_variant,p.%3D,ENST00000371883,;TAL1,synonymous_variant,p.%3D,ENST00000371884,;TAL1,non_coding_transcript_exon_variant,,ENST00000459729,;TAL1,downstream_gene_variant,,ENST00000464796,;	1246	204	161	SUCCESS
ELAVL4	1996	.	GRCh37	1	50513822	50513822	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	10	0	ENST00000448907.2:c.-15C>T		p.*5*	ENST00000448907	NM_001144777.1			0	.	.	.	.	.	T	.	protein_coding	.	CCDS53315.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATCGCCCG	NONE	.	.	.	.	.	ENSP00000399939	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000448907	Transcript	.	.	ENSG00000162374	3315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELAV4_HUMAN	ELAVL4	HGNC	B7Z5E0_HUMAN	.	UPI0000D4CA2F	SNV	ELAVL4,5_prime_UTR_variant,,ENST00000448907,;	137	10	18	SUCCESS
GBP2	2634	.	GRCh37	1	89573964	89573964	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200077424	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	67	0	ENST00000370466.3:c.1670G>A	p.Arg557His	p.R557H	ENST00000370466	NM_004120.4	557	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS719.1	1670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCGTTCC	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF39,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397	.	.	ENSP00000359497	.	11/11	.	.	.	.	.	.	.	.	rs200077424,COSM912968	11/11	PASS	ENST00000370466	Transcript	.	.	ENSG00000162645	4183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.553)	.	deleterious(0.02)	0,1	GBP2_HUMAN	GBP2	HGNC	Q8TCE5_HUMAN	.	UPI000013E19F	SNV	GBP2,missense_variant,p.Arg557His,ENST00000370466,;GBP2,non_coding_transcript_exon_variant,,ENST00000493802,;GBP2,downstream_gene_variant,,ENST00000463660,;GBP2,missense_variant,p.Arg557His,ENST00000464839,;PTGES3P1,upstream_gene_variant,,ENST00000451566,;PTGES3P1,upstream_gene_variant,,ENST00000439531,;	1939	67	48	SUCCESS
TASP1	55617	.	GRCh37	20	13610722	13610722	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	61	0	ENST00000337743.4:c.4A>G	p.Thr2Ala	p.T2A	ENST00000337743	NM_017714.2	2	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13116.1	4	RADIA|VARSCANS	.	CATGGTCATTC	NONE	.	.	hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF8	.	.	ENSP00000338624	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000337743	Transcript	.	.	ENSG00000089123	15859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.07)	.	TASP1_HUMAN	TASP1	HGNC	.	.	UPI00000382E5	SNV	TASP1,missense_variant,p.Thr2Ala,ENST00000544472,;TASP1,missense_variant,p.Thr2Ala,ENST00000337743,;TASP1,missense_variant,p.Thr2Ala,ENST00000539805,;TASP1,missense_variant,p.Thr2Ala,ENST00000455532,;TASP1,upstream_gene_variant,,ENST00000434275,;TASP1,non_coding_transcript_exon_variant,,ENST00000483898,;TASP1,non_coding_transcript_exon_variant,,ENST00000465381,;TASP1,non_coding_transcript_exon_variant,,ENST00000476108,;TASP1,non_coding_transcript_exon_variant,,ENST00000480436,;	125	61	30	SUCCESS
PTPRT	11122	.	GRCh37	20	40714481	40714481	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	73	0	ENST00000373198.4:c.3916T>C	p.Tyr1306His	p.Y1306H	ENST00000373198	NM_133170.3	1306	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS42874.1	3859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTACTGCA	NONE	.	.	PROSITE_profiles:PS50055,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000362283	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.02)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Tyr1277His,ENST00000373201,;PTPRT,missense_variant,p.Tyr1296His,ENST00000356100,;PTPRT,missense_variant,p.Tyr1306His,ENST00000373198,;PTPRT,missense_variant,p.Tyr1290His,ENST00000373193,;PTPRT,missense_variant,p.Tyr1297His,ENST00000373184,;PTPRT,missense_variant,p.Tyr1286His,ENST00000373190,;PTPRT,missense_variant,p.Tyr1287His,ENST00000373187,;	3859	73	92	SUCCESS
TTPAL	79183	.	GRCh37	20	43108685	43108685	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	53	0	ENST00000262605.4:c.46T>G	p.Ser16Ala	p.S16A	ENST00000262605	NM_001039199.2	16	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS13332.2	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCACTC	NONE	.	.	hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF110	.	.	ENSP00000361995	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000372904	Transcript	.	.	ENSG00000124120	16114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.19)	.	TTPAL_HUMAN	TTPAL	HGNC	B2RA57_HUMAN	.	UPI000020657C	SNV	TTPAL,missense_variant,p.Ser16Ala,ENST00000262605,;TTPAL,missense_variant,p.Ser16Ala,ENST00000372904,;TTPAL,missense_variant,p.Ser16Ala,ENST00000372906,;TTPAL,missense_variant,p.Ser16Ala,ENST00000456317,;	189	53	59	SUCCESS
TTC3	7267	.	GRCh37	21	38572587	38572587	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200071342	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	189	0	ENST00000354749.2:c.5905G>A	p.Val1969Met	p.V1969M	ENST00000354749		1969	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13651.1	5905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACGTGCGT	NONE	byCluster	.	PROSITE_profiles:PS50089,hmmpanther:PTHR17550,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000381981	.	45/46	.	.	.	.	.	.	.	.	rs200071342	45/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.28)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Val1969Met,ENST00000354749,;TTC3,missense_variant,p.Val261Met,ENST00000428693,;TTC3,missense_variant,p.Val1969Met,ENST00000355666,;TTC3,missense_variant,p.Val1969Met,ENST00000399017,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,downstream_gene_variant,,ENST00000488522,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;	8652	189	130	SUCCESS
RRP1B	23076	.	GRCh37	21	45089836	45089836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	96	287	0	ENST00000340648.4:c.202C>A	p.Pro68Thr	p.P68T	ENST00000340648	NM_015056.2	68	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33577.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAACCCCTT	NONE	.	.	hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2,Pfam_domain:PF05997	.	.	ENSP00000339145	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000340648	Transcript	.	.	ENSG00000160208	23818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	RRP1B_HUMAN	RRP1B	HGNC	.	.	UPI0000198EE6	SNV	RRP1B,missense_variant,p.Pro68Thr,ENST00000340648,;	319	287	181	SUCCESS
TANC1	85461	.	GRCh37	2	160053178	160053178	+	synonymous_variant	Silent	SNP	C	C	T	rs756778043	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	96	0	ENST00000263635.6:c.3039C>T	p.His1013=	p.H1013=	ENST00000263635	NM_033394.2	1013	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS42766.1	3039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGGTGA	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24166:SF23,hmmpanther:PTHR24166,PROSITE_profiles:PS50297	.	.	ENSP00000263635	.	18/27	.	.	.	.	.	.	.	.	rs756778043	18/27	PASS	ENST00000263635	Transcript	.	.	ENSG00000115183	29364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TANC1_HUMAN	TANC1	HGNC	.	.	UPI0000421D80	SNV	TANC1,synonymous_variant,p.%3D,ENST00000263635,;TANC1,synonymous_variant,p.%3D,ENST00000454300,;TANC1,upstream_gene_variant,,ENST00000470074,;	3276	96	93	SUCCESS
PLEKHM3	389072	.	GRCh37	2	208865840	208865840	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	73	151	0	ENST00000427836.2:c.524A>G	p.Gln175Arg	p.Q175R	ENST00000427836	NM_001080475.2	175	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS42808.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCTGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF10	.	.	ENSP00000417003	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000427836	Transcript	.	.	ENSG00000178385	34006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.66)	.	PKHM3_HUMAN	PLEKHM3	HGNC	.	.	UPI0000DBEE58	SNV	PLEKHM3,missense_variant,p.Gln175Arg,ENST00000457206,;PLEKHM3,missense_variant,p.Gln175Arg,ENST00000427836,;PLEKHM3,missense_variant,p.Gln175Arg,ENST00000389247,;	1014	151	133	SUCCESS
USP40	55230	.	GRCh37	2	234394614	234394614	+	synonymous_variant	Silent	SNP	G	G	A	rs369926451	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8	20	0	ENST00000251722.6:c.3204C>T	p.Asp1068=	p.D1068=	ENST00000251722		1068	gaC/gaT	0	A:0.0003	.	.	.	.	A	D	protein_coding	YES	CCDS46547.1	3240	MUTECT|MUSE	.	AGCACGTCCTG	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000415434	.	28/31	.	.	.	.	.	.	.	.	rs369926451	28/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,synonymous_variant,p.%3D,ENST00000251722,;USP40,synonymous_variant,p.%3D,ENST00000454354,;USP40,synonymous_variant,p.%3D,ENST00000450966,;USP40,synonymous_variant,p.%3D,ENST00000427112,;USP40,downstream_gene_variant,,ENST00000430158,;USP40,non_coding_transcript_exon_variant,,ENST00000496298,;USP40,upstream_gene_variant,,ENST00000464956,;USP40,3_prime_UTR_variant,,ENST00000450940,;USP40,non_coding_transcript_exon_variant,,ENST00000473191,;USP40,non_coding_transcript_exon_variant,,ENST00000483519,;	3240	20	8	SUCCESS
COL6A3	1293	.	GRCh37	2	238275926	238275926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	62	0	ENST00000295550.4:c.4904A>G	p.Lys1635Arg	p.K1635R	ENST00000295550	NM_004369.3	1635	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33412.1	4904	RADIA|VARSCANS	.	TCTTCTTCTCT	NONE	.	.	hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	11/44	.	.	.	.	.	.	.	.	.	11/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.141)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Lys1028Arg,ENST00000472056,;COL6A3,missense_variant,p.Lys1429Arg,ENST00000409809,;COL6A3,missense_variant,p.Lys1635Arg,ENST00000295550,;COL6A3,missense_variant,p.Lys1434Arg,ENST00000347401,;COL6A3,missense_variant,p.Lys1435Arg,ENST00000346358,;COL6A3,missense_variant,p.Lys1429Arg,ENST00000353578,;COL6A3,downstream_gene_variant,,ENST00000392003,;COL6A3,downstream_gene_variant,,ENST00000392004,;	5357	62	35	SUCCESS
AQP12A	375318	.	GRCh37	2	241633929	241633929	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	15	68	0	ENST00000337801.4:c.651G>A	p.Leu217=	p.L217=	ENST00000337801	NM_198998.2	217	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	.	651	SOMATICSNIPER|VARSCANS	.	TTACTGGAGTA	NONE	.	.	hmmpanther:PTHR21191:SF8,hmmpanther:PTHR21191,Pfam_domain:PF00230,Gene3D:1.20.1080.10,PIRSF_domain:PIRSF017529,Superfamily_domains:SSF81338,Prints_domain:PR02025	.	.	ENSP00000337144	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000337801	Transcript	.	.	ENSG00000184945	19941	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AQ12A_HUMAN	AQP12A	HGNC	.	.	UPI00000743B9	SNV	AQP12A,synonymous_variant,p.%3D,ENST00000337801,;AQP12A,synonymous_variant,p.%3D,ENST00000429564,;AC011298.2,downstream_gene_variant,,ENST00000407635,;AC011298.2,downstream_gene_variant,,ENST00000600041,;AQP12A,upstream_gene_variant,,ENST00000474778,;AQP12A,upstream_gene_variant,,ENST00000471878,;AQP12A,upstream_gene_variant,,ENST00000460527,;	720	68	20	SUCCESS
EFEMP1	2202	.	GRCh37	2	56094351	56094351	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746366927	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	75	0	ENST00000355426.3:c.1339G>T	p.Ala447Ser	p.A447S	ENST00000355426		447	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1857.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCACTTA	NONE	.	.	hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048	.	.	ENSP00000378058	.	11/11	.	.	.	.	.	.	.	.	rs746366927	11/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0)	.	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Ala447Ser,ENST00000355426,;EFEMP1,missense_variant,p.Ala447Ser,ENST00000394554,;EFEMP1,missense_variant,p.Ala309Ser,ENST00000424836,;EFEMP1,missense_variant,p.Ala447Ser,ENST00000394555,;	1775	76	31	SUCCESS
OTX1	5013	.	GRCh37	2	63282697	63282698	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	121	0	ENST00000282549.2:c.313_314del	p.Ser105ProfsTer35	p.S105Pfs*35	ENST00000282549	NM_014562.3	104	aAG/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS1873.1	311-312	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACCAAGAGCCG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF310	.	.	ENSP00000282549	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000282549	Transcript	.	.	ENSG00000115507	8521	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OTX1_HUMAN	OTX1	HGNC	Q9P2R2_HUMAN,B4DM62_HUMAN	.	UPI0000130F36	deletion	OTX1,frameshift_variant,p.Ser105ProfsTer35,ENST00000282549,;OTX1,frameshift_variant,p.Ser105ProfsTer35,ENST00000366671,;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;OTX1,downstream_gene_variant,,ENST00000484066,;	587-588	121	66	SUCCESS
REG1P	0	.	GRCh37	2	79364369	79364369	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	46	0	ENST00000444841.1:n.266A>G		p.*89*	ENST00000444841				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	AGGTCTCATGC	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000444841	Transcript	.	.	ENSG00000204787	9953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	REG1P	HGNC	.	.	.	SNV	REG1P,non_coding_transcript_exon_variant,,ENST00000414597,;REG1P,non_coding_transcript_exon_variant,,ENST00000377435,;REG1P,non_coding_transcript_exon_variant,,ENST00000444841,;REG1P,non_coding_transcript_exon_variant,,ENST00000443710,;REG1P,non_coding_transcript_exon_variant,,ENST00000450249,;REG1P,downstream_gene_variant,,ENST00000434852,;REG1P,non_coding_transcript_exon_variant,,ENST00000447469,;	266	46	35	SUCCESS
SUCLG1	8802	.	GRCh37	2	84660559	84660559	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1250026848	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	155	0	ENST00000393868.2:c.590G>A	p.Gly197Asp	p.G197D	ENST00000393868	NM_003849.3	197	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1967.2	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCCTTAA	NONE	.	.	hmmpanther:PTHR11117,TIGRFAM_domain:TIGR01019,Gene3D:3.40.50.261,PIRSF_domain:PIRSF001553,Superfamily_domains:SSF52210	.	.	ENSP00000377446	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000393868	Transcript	.	.	ENSG00000163541	11449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	deleterious(0.02)	.	SUCA_HUMAN	SUCLG1	HGNC	Q6IAL5_HUMAN	.	UPI000014BF59	SNV	SUCLG1,missense_variant,p.Gly197Asp,ENST00000393868,;SUCLG1,splice_region_variant,,ENST00000488234,;SUCLG1,upstream_gene_variant,,ENST00000491123,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000487809,;	801	156	75	SUCCESS
ST3GAL5	8869	.	GRCh37	2	86075030	86075030	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755430767	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	45	0	ENST00000377332.3:c.616G>A	p.Gly206Arg	p.G206R	ENST00000377332	NM_003896.3	206	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1986.2	616	RADIA|MUTECT|MUSE|VARSCANS	.	TAATCCGTGCA	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713:SF5,hmmpanther:PTHR13713	.	.	ENSP00000366549	.	4/7	.	.	.	.	.	.	.	.	rs755430767	4/7	PASS	ENST00000377332	Transcript	.	.	ENSG00000115525	10872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SIAT9_HUMAN	ST3GAL5	HGNC	C9JYS9_HUMAN	.	UPI000015F319	SNV	ST3GAL5,missense_variant,p.Gly178Arg,ENST00000393805,;ST3GAL5,missense_variant,p.Gly206Arg,ENST00000377332,;ST3GAL5,missense_variant,p.Gly183Arg,ENST00000393808,;ST3GAL5,downstream_gene_variant,,ENST00000455892,;ST3GAL5,downstream_gene_variant,,ENST00000525834,;ST3GAL5,downstream_gene_variant,,ENST00000473122,;ST3GAL5,downstream_gene_variant,,ENST00000487896,;ST3GAL5,downstream_gene_variant,,ENST00000461892,;ST3GAL5,3_prime_UTR_variant,,ENST00000306262,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461206,;ST3GAL5,downstream_gene_variant,,ENST00000433665,;	725	45	31	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119087231	119087231	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	51	82	0	ENST00000264245.4:c.216C>G	p.Gly72=	p.G72=	ENST00000264245	NM_020754.2	72	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS43135.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCTCAGA	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000264245	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,synonymous_variant,p.%3D,ENST00000482743,;ARHGAP31,synonymous_variant,p.%3D,ENST00000264245,;	748	82	77	SUCCESS
IFT80	57560	.	GRCh37	3	159976324	159976324	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	110	268	0	ENST00000326448.7:c.2323T>C	p.Leu775=	p.L775=	ENST00000326448	NM_020800.2	775	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3188.1	2323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAAACCTA	NONE	.	.	hmmpanther:PTHR24098:SF8,hmmpanther:PTHR24098	.	.	ENSP00000312778	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000326448	Transcript	.	.	ENSG00000068885	29262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFT80_HUMAN	IFT80	HGNC	C9JUJ1_HUMAN,C9JUI1_HUMAN,C9JSB1_HUMAN,C9J6I5_HUMAN,C9J6G8_HUMAN,C9J627_HUMAN,C9IZR2_HUMAN	.	UPI0000160F16	SNV	IFT80,synonymous_variant,p.%3D,ENST00000483465,;IFT80,synonymous_variant,p.%3D,ENST00000496589,;IFT80,synonymous_variant,p.%3D,ENST00000326448,;IFT80,non_coding_transcript_exon_variant,,ENST00000463240,;RP11-432B6.3,synonymous_variant,p.%3D,ENST00000483754,;IFT80,non_coding_transcript_exon_variant,,ENST00000487943,;IFT80,non_coding_transcript_exon_variant,,ENST00000478278,;	2756	268	178	SUCCESS
SATB1	6304	.	GRCh37	3	18436227	18436227	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	53	146	0	ENST00000338745.6:c.933T>A	p.Pro311=	p.P311=	ENST00000338745	NM_002971.4	311	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS56242.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATAGGTGT	NONE	.	.	hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14	.	.	ENSP00000399518	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000417717	Transcript	.	.	ENSG00000182568	10541	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SATB1_HUMAN	SATB1	HGNC	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN	.	UPI0000E1FB67	SNV	SATB1,synonymous_variant,p.%3D,ENST00000454909,;SATB1,synonymous_variant,p.%3D,ENST00000417717,;SATB1,synonymous_variant,p.%3D,ENST00000338745,;SATB1,downstream_gene_variant,,ENST00000440737,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,downstream_gene_variant,,ENST00000475083,;	1904	146	92	SUCCESS
PAK2	5062	.	GRCh37	3	196547330	196547330	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	122	0	ENST00000327134.3:c.1242G>A	p.Val414=	p.V414=	ENST00000327134	NM_002577.4	414	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3321.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGGTTAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000314067	.	13/15	.	.	.	.	.	.	.	.	COSM730507,COSM730508	13/15	PASS	ENST00000327134	Transcript	.	.	ENSG00000180370	8591	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PAK2_HUMAN	PAK2	HGNC	H9XFB4_HUMAN	.	UPI0000141B02	SNV	PAK2,synonymous_variant,p.%3D,ENST00000426668,;PAK2,synonymous_variant,p.%3D,ENST00000327134,;	1564	122	127	SUCCESS
RBM6	10180	.	GRCh37	3	50095360	50095360	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	31	45	0	ENST00000266022.4:c.1893G>A	p.Arg631=	p.R631=	ENST00000266022	NM_005777.2	631	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2809.1	1893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGGGAAGG	NONE	.	.	Gene3D:3.30.70.330,hmmpanther:PTHR13948:SF22,hmmpanther:PTHR13948	.	.	ENSP00000266022	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000266022	Transcript	.	.	ENSG00000004534	9903	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM6_HUMAN	RBM6	HGNC	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN	.	UPI000013D6C0	SNV	RBM6,synonymous_variant,p.%3D,ENST00000442092,;RBM6,synonymous_variant,p.%3D,ENST00000266022,;RBM6,synonymous_variant,p.%3D,ENST00000422955,;RBM6,synonymous_variant,p.%3D,ENST00000443081,;RBM6,synonymous_variant,p.%3D,ENST00000446471,;RBM6,5_prime_UTR_variant,,ENST00000539992,;RBM6,upstream_gene_variant,,ENST00000438912,;RBM6,non_coding_transcript_exon_variant,,ENST00000441115,;RBM6,downstream_gene_variant,,ENST00000464013,;RBM6,synonymous_variant,p.%3D,ENST00000454079,;RBM6,synonymous_variant,p.%3D,ENST00000434592,;RBM6,3_prime_UTR_variant,,ENST00000419610,;RBM6,non_coding_transcript_exon_variant,,ENST00000483350,;RBM6,downstream_gene_variant,,ENST00000466247,;RBM6,downstream_gene_variant,,ENST00000425608,;RBM6,upstream_gene_variant,,ENST00000478026,;	2152	45	47	SUCCESS
CISH	1154	.	GRCh37	3	50645109	50645109	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	37	71	0	ENST00000348721.3:c.706del	p.Ala236ProfsTer165	p.A236Pfs*165	ENST00000348721	NM_145071.2	236	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS46834.1	757	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTCGGCCACCA	NONE	.	.	PROSITE_profiles:PS50225,hmmpanther:PTHR10385:SF7,hmmpanther:PTHR10385,Pfam_domain:PF07525,SMART_domains:SM00969,SMART_domains:SM00253,Superfamily_domains:SSF158235	.	.	ENSP00000409346	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	deletion	CISH,frameshift_variant,p.Ala236ProfsTer165,ENST00000348721,;CISH,frameshift_variant,p.Ala253ProfsTer165,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,upstream_gene_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	985	71	72	SUCCESS
TBC1D9	23158	.	GRCh37	4	141622704	141622704	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	81	0	ENST00000442267.2:c.195C>A	p.Ile65=	p.I65=	ENST00000442267	NM_015130.2	65	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS47136.1	195	RADIA|MUSE|VARSCANS	.	TACAAGATTCG	NONE	.	.	.	.	.	ENSP00000411197	.	2/21	.	.	.	.	.	.	.	.	.	2/21	oxog	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,synonymous_variant,p.%3D,ENST00000442267,;Y_RNA,upstream_gene_variant,,ENST00000384426,;	270	81	29	SUCCESS
FGFBP1	9982	.	GRCh37	4	15938165	15938165	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749029048	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	94	288	0	ENST00000382333.1:c.91C>A	p.Leu31Ile	p.L31I	ENST00000382333	NM_005130.4	31	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS3418.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAGTCCAT	NONE	.	.	hmmpanther:PTHR15258:SF2,hmmpanther:PTHR15258,Pfam_domain:PF06473	.	.	ENSP00000371770	.	3/3	.	.	.	.	.	.	.	.	rs749029048	3/3	PASS	ENST00000382333	Transcript	.	.	ENSG00000137440	19695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.24)	.	FGFP1_HUMAN	FGFBP1	HGNC	.	.	UPI000004A926	SNV	FGFBP1,missense_variant,p.Leu31Ile,ENST00000259988,;FGFBP1,missense_variant,p.Leu31Ile,ENST00000382333,;	386	288	261	SUCCESS
FAM184B	27146	.	GRCh37	4	17710586	17710586	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs61746992	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	133	0	ENST00000265018.3:c.823G>T	p.Asp275Tyr	p.D275Y	ENST00000265018	NM_015688.1	275	Gac/Tac	0	G:0	G:0	.	G:0.0014	.	A	D/Y	protein_coding	YES	CCDS47033.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCTCCTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870	G:0	G:0.0041	ENSP00000265018	G:0.004	2/18	.	.	.	.	.	.	.	.	rs61746992	2/18	PASS	ENST00000265018	Transcript	.	G:0.0012	ENSG00000047662	29235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	G:0.001	deleterious(0)	.	F184B_HUMAN	FAM184B	HGNC	.	.	UPI000020BD7C	SNV	FAM184B,missense_variant,p.Asp275Tyr,ENST00000265018,;	1036	133	97	SUCCESS
TENM3	55714	.	GRCh37	4	183675952	183675952	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	81	0	ENST00000511685.1:c.4432G>C	p.Ala1478Pro	p.A1478P	ENST00000511685		1478	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS47165.1	4432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Gene3D:2.120.10.30,Superfamily_domains:SSF50978,Superfamily_domains:SSF101898	.	.	ENSP00000424226	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Ala1478Pro,ENST00000511685,;TENM3,missense_variant,p.Ala1478Pro,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	4555	81	42	SUCCESS
FAM92A1P2	0	.	GRCh37	4	183959283	183959283	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	86	1	ENST00000502308.1:n.466G>A		p.*156*	ENST00000502308				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCGAGAAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000502308	Transcript	.	.	ENSG00000230219	32287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM92A1P2	HGNC	.	.	.	SNV	FAM92A1P2,non_coding_transcript_exon_variant,,ENST00000502308,;FAM92A1P2,non_coding_transcript_exon_variant,,ENST00000504766,;	466	87	66	SUCCESS
GUF1	60558	.	GRCh37	4	44697656	44697656	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	31	61	0	ENST00000281543.5:c.1740A>T	p.Lys580Asn	p.K580N	ENST00000281543	NM_021927.2	580	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS3468.1	1740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAAGCCAT	NONE	.	.	Pfam_domain:PF06421,TIGRFAM_domain:TIGR01393,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF97,HAMAP:MF_00071	.	.	ENSP00000281543	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000281543	Transcript	.	.	ENSG00000151806	25799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	GUF1_HUMAN	GUF1	HGNC	.	.	UPI000006FFEC	SNV	GUF1,missense_variant,p.Lys580Asn,ENST00000281543,;GNPDA2,intron_variant,,ENST00000609092,;GNPDA2,intron_variant,,ENST00000608855,;RP11-700J17.1,upstream_gene_variant,,ENST00000610260,;GUF1,non_coding_transcript_exon_variant,,ENST00000506793,;GUF1,intron_variant,,ENST00000511493,;	1934	61	57	SUCCESS
CNGA1	1259	.	GRCh37	4	47939598	47939598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	38	130	0	ENST00000358519.4:c.913A>G	p.Met305Val	p.M305V	ENST00000358519		305	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS47050.1	1120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACATAACAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF387,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000384264	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000402813	Transcript	1	.	ENSG00000198515	2148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	tolerated(0.11)	.	CNGA1_HUMAN	CNGA1	HGNC	D6RCF1_HUMAN,D6R978_HUMAN	.	UPI0001881B54	SNV	CNGA1,missense_variant,p.Met305Val,ENST00000358519,;CNGA1,missense_variant,p.Met374Val,ENST00000402813,;CNGA1,missense_variant,p.Met305Val,ENST00000544810,;CNGA1,missense_variant,p.Met305Val,ENST00000514170,;CNGA1,missense_variant,p.Met305Val,ENST00000420489,;NIPAL1,intron_variant,,ENST00000513724,;NIPAL1,intron_variant,,ENST00000500571,;	1263	130	84	SUCCESS
DCUN1D4	23142	.	GRCh37	4	52779748	52779748	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	38	0	ENST00000334635.5:c.877T>C	p.Ter293GlnextTer82	p.*293Qext*82	ENST00000334635	NM_001040402.1	293	Tag/Cag	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS33982.1	877	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTAGGAC	NONE	.	.	.	.	.	ENSP00000334625	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000334635	Transcript	.	.	ENSG00000109184	28998	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCNL4_HUMAN	DCUN1D4	HGNC	B4DH26_HUMAN	.	UPI00001C1E10	SNV	DCUN1D4,stop_lost,p.Ter103GlnextTer82,ENST00000510808,;DCUN1D4,stop_lost,p.Ter233GlnextTer82,ENST00000381437,;DCUN1D4,stop_lost,p.Ter258GlnextTer82,ENST00000381441,;DCUN1D4,stop_lost,p.Ter293GlnextTer82,ENST00000334635,;DCUN1D4,stop_lost,p.Ter337GlnextTer?,ENST00000451288,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000507659,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000508257,;DCUN1D4,downstream_gene_variant,,ENST00000510587,;DCUN1D4,3_prime_UTR_variant,,ENST00000509376,;DCUN1D4,3_prime_UTR_variant,,ENST00000505634,;DCUN1D4,3_prime_UTR_variant,,ENST00000477560,;DCUN1D4,3_prime_UTR_variant,,ENST00000507741,;DCUN1D4,3_prime_UTR_variant,,ENST00000512199,;DCUN1D4,downstream_gene_variant,,ENST00000510518,;	1057	38	31	SUCCESS
CMBL	134147	.	GRCh37	5	10288612	10288612	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	51	0	ENST00000296658.3:c.245A>T	p.Gln82Leu	p.Q82L	ENST00000296658	NM_138809.3	82	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3878.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTTGCCCT	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF01738,hmmpanther:PTHR17630:SF44,hmmpanther:PTHR17630	.	.	ENSP00000296658	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000296658	Transcript	.	.	ENSG00000164237	25090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.21)	.	CMBL_HUMAN	CMBL	HGNC	.	.	UPI00000411DF	SNV	CMBL,missense_variant,p.Gln82Leu,ENST00000296658,;Y_RNA,downstream_gene_variant,,ENST00000516532,;CMBL,non_coding_transcript_exon_variant,,ENST00000510532,;CMBL,non_coding_transcript_exon_variant,,ENST00000511963,;CMBL,non_coding_transcript_exon_variant,,ENST00000506821,;CMBL,downstream_gene_variant,,ENST00000514202,;	666	51	54	SUCCESS
PSD2	84249	.	GRCh37	5	139189232	139189232	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	82	210	0	ENST00000274710.3:c.207T>C	p.His69=	p.H69=	ENST00000274710	NM_032289.2	69	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS4216.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGGCCT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	.	ENSP00000274710	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,synonymous_variant,p.%3D,ENST00000274710,;	412	210	155	SUCCESS
MRPL22	29093	.	GRCh37	5	154346429	154346429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1363472101	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	45	0	ENST00000523037.1:c.593G>A	p.Arg198His	p.R198H	ENST00000523037	NM_014180.3	198	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4331.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGCAGCC	NONE	.	.	hmmpanther:PTHR13501	.	.	ENSP00000431040	.	7/7	.	.	.	.	.	.	.	.	COSM1435464	7/7	PASS	ENST00000523037	Transcript	.	.	ENSG00000082515	14480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.953)	.	tolerated(0.06)	1	RM22_HUMAN	MRPL22	HGNC	.	.	UPI0000046801	SNV	MRPL22,missense_variant,p.Arg198His,ENST00000523037,;MRPL22,missense_variant,p.Arg118His,ENST00000265229,;MRPL22,missense_variant,p.Arg204His,ENST00000522038,;MRPL22,missense_variant,p.Arg224His,ENST00000439747,;MRPL22,non_coding_transcript_exon_variant,,ENST00000518364,;MRPL22,3_prime_UTR_variant,,ENST00000519059,;MRPL22,non_coding_transcript_exon_variant,,ENST00000520040,;	634	45	58	SUCCESS
FABP6	2172	.	GRCh37	5	159656545	159656545	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	62	161	0	ENST00000402432.3:c.-20G>T		p.*7*	ENST00000402432	NM_001445.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43393.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGCCTCC	NONE	.	.	.	.	.	ENSP00000377549	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393980	Transcript	.	.	ENSG00000170231	3561	.	.	LOW	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FABP6_HUMAN	FABP6	HGNC	Q8IUB1_HUMAN	.	UPI000020C072	SNV	FABP6,splice_region_variant,,ENST00000393982,;FABP6,splice_region_variant,,ENST00000393980,;FABP6,5_prime_UTR_variant,,ENST00000402432,;FABP6,splice_region_variant,,ENST00000523955,;FABP6,upstream_gene_variant,,ENST00000521362,;	.	161	122	SUCCESS
TENM2	57451	.	GRCh37	5	167674101	167674101	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1433586017	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	52	1	ENST00000518659.1:c.6157A>G	p.Asn2053Asp	p.N2053D	ENST00000518659	NM_001122679.1	2053	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	.	6157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCAACCTC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219	.	.	ENSP00000429430	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	tolerated(0.12)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Asn2052Asp,ENST00000545108,;TENM2,missense_variant,p.Asn1814Asp,ENST00000520394,;TENM2,missense_variant,p.Asn1932Asp,ENST00000519204,;TENM2,missense_variant,p.Asn2053Asp,ENST00000518659,;TENM2,missense_variant,p.Asn1877Asp,ENST00000403607,;	6196	53	33	SUCCESS
MCTP1	79772	.	GRCh37	5	94275895	94275895	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1167528306	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	44	0	ENST00000515393.1:c.1066A>G	p.Thr356Ala	p.T356A	ENST00000515393	NM_024717.4	356	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34203.1	1066	RADIA|MUTECT|VARSCANS	.	ATCTGTGGGCC	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.027)	.	tolerated(0.14)	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,missense_variant,p.Thr135Ala,ENST00000505208,;MCTP1,missense_variant,p.Thr117Ala,ENST00000507214,;MCTP1,missense_variant,p.Thr356Ala,ENST00000515393,;MCTP1,missense_variant,p.Thr17Ala,ENST00000512425,;MCTP1,missense_variant,p.Thr116Ala,ENST00000514780,;MCTP1,missense_variant,p.Thr165Ala,ENST00000503301,;MCTP1,missense_variant,p.Thr135Ala,ENST00000429576,;MCTP1,missense_variant,p.Thr135Ala,ENST00000312216,;MCTP1,missense_variant,p.Thr135Ala,ENST00000508509,;MCTP1,downstream_gene_variant,,ENST00000510732,;MCTP1,upstream_gene_variant,,ENST00000506568,;MCTP1,downstream_gene_variant,,ENST00000513695,;MCTP1,downstream_gene_variant,,ENST00000512568,;	1066	44	15	SUCCESS
TRDN	10345	.	GRCh37	6	123825006	123825006	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781233223	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	193	481	0	ENST00000334268.4:c.651G>T	p.Lys217Asn	p.K217N	ENST00000334268		217	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS55053.1	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTCTTTTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0,Pfam_domain:PF05279	.	.	ENSP00000381240	.	8/41	.	.	.	.	.	.	.	.	rs781233223	8/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Lys217Asn,ENST00000398178,;TRDN,missense_variant,p.Lys217Asn,ENST00000334268,;TRDN,missense_variant,p.Lys217Asn,ENST00000546248,;TRDN,missense_variant,p.Lys56Asn,ENST00000361029,;	673	481	226	SUCCESS
KIAA1244	0	.	GRCh37	6	138612924	138612924	+	synonymous_variant	Silent	SNP	G	G	A	rs140287471	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	114	0	ENST00000251691.4:c.3102G>A	p.Ser1034=	p.S1034=	ENST00000251691	NM_020340.4	1034	tcG/tcA	0	A:0	.	.	.	.	A	S	protein_coding	YES	CCDS5189.2	3102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGCAGCC	NONE	byCluster	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	A:0.0002	ENSP00000251691	.	19/34	.	.	.	.	.	.	.	.	rs140287471	19/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,synonymous_variant,p.%3D,ENST00000251691,;	3268	114	75	SUCCESS
NUP153	9972	.	GRCh37	6	17640200	17640200	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	85	0	ENST00000262077.2:c.1816G>C	p.Gly606Arg	p.G606R	ENST00000262077	NM_001278210.1	606	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS4541.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCTTCTT	NONE	.	.	Pfam_domain:PF08604,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	.	.	ENSP00000262077	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,missense_variant,p.Gly637Arg,ENST00000537253,;NUP153,missense_variant,p.Gly606Arg,ENST00000262077,;	1816	85	74	SUCCESS
OR2J3	442186	.	GRCh37	6	29080221	29080221	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	197	81	304	0	ENST00000377169.1:c.554C>A	p.Pro185Gln	p.P185Q	ENST00000377169	NM_001005216.3	185	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS43433.1	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCAGCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Pro185Gln,ENST00000377169,;	554	304	278	SUCCESS
RING1	6015	.	GRCh37	6	33178961	33178961	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	33	0	ENST00000374656.4:c.482C>T	p.Pro161Leu	p.P161L	ENST00000374656	NM_002931.3	161	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS34424.1	482	MUTECT|MUSE	.	GATACCAGGGT	NONE	.	.	hmmpanther:PTHR10825:SF6,hmmpanther:PTHR10825	.	.	ENSP00000363787	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000374656	Transcript	.	.	ENSG00000204227	10018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.31)	.	RING1_HUMAN	RING1	HGNC	B4DVB5_HUMAN	.	UPI000019273E	SNV	RING1,missense_variant,p.Pro161Leu,ENST00000374656,;HSD17B8,downstream_gene_variant,,ENST00000374662,;MIR219-1,downstream_gene_variant,,ENST00000362166,;RING1,non_coding_transcript_exon_variant,,ENST00000478431,;HSD17B8,downstream_gene_variant,,ENST00000469186,;ZNF70P1,upstream_gene_variant,,ENST00000417480,;	690	33	20	SUCCESS
PACSIN1	29993	.	GRCh37	6	34498320	34498320	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	102	0	ENST00000244458.2:c.993C>T	p.Ala331=	p.A331=	ENST00000244458		331	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4793.1	993	RADIA|VARSCANS	.	AATGCCACTGG	NONE	.	.	hmmpanther:PTHR10959:SF7,hmmpanther:PTHR10959	.	.	ENSP00000439639	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000538621	Transcript	.	.	ENSG00000124507	8570	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PACN1_HUMAN	PACSIN1	HGNC	Q5TZC3_HUMAN,F6U236_HUMAN	.	UPI000000D983	SNV	PACSIN1,synonymous_variant,p.%3D,ENST00000538621,;PACSIN1,synonymous_variant,p.%3D,ENST00000244458,;PACSIN1,synonymous_variant,p.%3D,ENST00000374043,;PACSIN1,downstream_gene_variant,,ENST00000486120,;PACSIN1,downstream_gene_variant,,ENST00000487760,;PACSIN1,downstream_gene_variant,,ENST00000493633,;	1238	102	43	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42975774	42975774	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	64	99	0	ENST00000485511.1:c.828C>T	p.Ile276=	p.I276=	ENST00000485511	NM_001270476.1	276	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4878.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATCCGTAG	NONE	.	.	hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000417963	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,synonymous_variant,p.%3D,ENST00000461010,;PPP2R5D,synonymous_variant,p.%3D,ENST00000485511,;PPP2R5D,synonymous_variant,p.%3D,ENST00000394110,;PPP2R5D,synonymous_variant,p.%3D,ENST00000470467,;PPP2R5D,synonymous_variant,p.%3D,ENST00000472118,;PPP2R5D,upstream_gene_variant,,ENST00000486843,;MEA1,downstream_gene_variant,,ENST00000244711,;PPP2R5D,3_prime_UTR_variant,,ENST00000230402,;PPP2R5D,non_coding_transcript_exon_variant,,ENST00000467447,;PPP2R5D,upstream_gene_variant,,ENST00000482315,;	1007	99	115	SUCCESS
ALKBH4	54784	.	GRCh37	7	102100057	102100057	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	49	0	ENST00000292566.3:c.315G>T	p.Arg105Ser	p.R105S	ENST00000292566	NM_017621.3	105	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS5723.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCTCCG	NONE	.	.	hmmpanther:PTHR12463,Gene3D:3i3qA00,Superfamily_domains:SSF51197	.	.	ENSP00000292566	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000292566	Transcript	.	.	ENSG00000160993	21900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	deleterious(0)	.	ALKB4_HUMAN	ALKBH4	HGNC	.	.	UPI0000073F0C	SNV	ALKBH4,missense_variant,p.Arg105Ser,ENST00000292566,;ORAI2,downstream_gene_variant,,ENST00000356387,;ALKBH4,3_prime_UTR_variant,,ENST00000490528,;ALKBH4,non_coding_transcript_exon_variant,,ENST00000498283,;	355	49	29	SUCCESS
FLNC	2318	.	GRCh37	7	128494736	128494736	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	39	0	ENST00000325888.8:c.6997G>C	p.Ala2333Pro	p.A2333P	ENST00000325888	NM_001458.4	2333	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS43644.1	6997	RADIA|MUTECT|VARSCANS	.	TGCCAGGTAAG	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	41/48	.	.	.	.	.	.	.	.	.	41/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,missense_variant,p.Ala2333Pro,ENST00000325888,;FLNC,missense_variant,p.Ala2300Pro,ENST00000346177,;RP11-309L24.2,intron_variant,,ENST00000469965,;	7258	39	34	SUCCESS
DNAH11	8701	.	GRCh37	7	21641022	21641022	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	37	0	ENST00000409508.3:c.3434A>G	p.Glu1145Gly	p.E1145G	ENST00000409508	NM_001277115.1	1145	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	.	3434	RADIA|VARSCANS	.	GAATGAGCTAC	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676	.	.	ENSP00000330671	.	18/83	.	.	.	.	.	.	.	.	.	18/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.786)	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,missense_variant,p.Glu1145Gly,ENST00000328843,;DNAH11,missense_variant,p.Glu1145Gly,ENST00000409508,;	3465	37	23	SUCCESS
ABCA13	154664	.	GRCh37	7	48467402	48467402	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs547117792	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	48	137	0	ENST00000435803.1:c.12499C>T	p.His4167Tyr	p.H4167Y	ENST00000435803	NM_152701.3	4167	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS47584.1	12499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCACATT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	42/62	.	.	.	.	.	.	.	.	rs547117792	42/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.His4167Tyr,ENST00000435803,;ABCA13,missense_variant,p.His433Tyr,ENST00000453246,;	12523	137	103	SUCCESS
RNF216	54476	.	GRCh37	7	5662625	5662625	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs757045404	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	105	0	ENST00000425013.2:c.2467A>G	p.Met823Val	p.M823V	ENST00000425013	NM_207111.3	823	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS34594.1	2638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATGTTGA	NONE	.	.	.	.	.	ENSP00000374552	.	17/17	.	.	.	.	.	.	.	.	rs757045404	17/17	PASS	ENST00000389902	Transcript	.	.	ENSG00000011275	21698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	RN216_HUMAN	RNF216	HGNC	C9JIV3_HUMAN	.	UPI000013F5B3	SNV	RNF216,missense_variant,p.Met880Val,ENST00000389902,;RNF216,missense_variant,p.Met823Val,ENST00000425013,;RNF216,non_coding_transcript_exon_variant,,ENST00000469375,;RNF216,3_prime_UTR_variant,,ENST00000389900,;	2906	105	60	SUCCESS
ZNF804B	219578	.	GRCh37	7	88966173	88966173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	57	191	0	ENST00000333190.4:c.3877C>T	p.Pro1293Ser	p.P1293S	ENST00000333190	NM_181646.2	1293	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS5613.1	3877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTCCTACA	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Pro1293Ser,ENST00000333190,;	4486	191	112	SUCCESS
ASNS	440	.	GRCh37	7	97481701	97481701	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs568570377	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	46	129	0	ENST00000175506.4:c.1556G>A	p.Arg519His	p.R519H	ENST00000175506	NM_183356.3	519	cGt/cAt	0	.	A:0.0008	.	A:0	.	T	R/H	protein_coding	YES	CCDS5652.1	1556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGACGGTAG	NONE	by1000G	.	hmmpanther:PTHR11772:SF5,hmmpanther:PTHR11772,Gene3D:3.40.50.620,PIRSF_domain:PIRSF001589,Superfamily_domains:SSF52402	A:0	.	ENSP00000175506	A:0	14/14	.	.	.	.	.	.	.	.	rs568570377	14/14	PASS	ENST00000175506	Transcript	.	A:0.0002	ENSG00000070669	753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	A:0	deleterious(0.02)	.	ASNS_HUMAN	ASNS	HGNC	C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN	.	UPI0000169F55	SNV	ASNS,missense_variant,p.Arg519His,ENST00000394309,;ASNS,missense_variant,p.Arg436His,ENST00000437628,;ASNS,missense_variant,p.Arg519His,ENST00000175506,;ASNS,missense_variant,p.Arg436His,ENST00000455086,;ASNS,missense_variant,p.Arg498His,ENST00000444334,;ASNS,missense_variant,p.Arg519His,ENST00000394308,;ASNS,missense_variant,p.Arg498His,ENST00000422745,;ASNS,3_prime_UTR_variant,,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000487714,;ASNS,downstream_gene_variant,,ENST00000462436,;	2085	129	110	SUCCESS
RGS22	26166	.	GRCh37	8	101118126	101118126	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	38	0	ENST00000360863.6:c.24G>T		p.X8_splice	ENST00000360863	NM_015668.3	8	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43758.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCGCGGT	NONE	.	.	hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845	.	.	ENSP00000354109	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,synonymous_variant,p.%3D,ENST00000523437,;RGS22,synonymous_variant,p.%3D,ENST00000360863,;RGS22,intron_variant,,ENST00000519408,;RGS22,intron_variant,,ENST00000520117,;RGS22,intron_variant,,ENST00000517828,;RGS22,upstream_gene_variant,,ENST00000519092,;RGS22,upstream_gene_variant,,ENST00000523287,;RGS22,upstream_gene_variant,,ENST00000523600,;RGS22,upstream_gene_variant,,ENST00000522064,;RGS22,synonymous_variant,p.%3D,ENST00000519725,;RGS22,splice_region_variant,,ENST00000518719,;	219	38	53	SUCCESS
PRKDC	5591	.	GRCh37	8	48839897	48839897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	29	98	0	ENST00000314191.2:c.2276G>A	p.Gly759Asp	p.G759D	ENST00000314191	NM_006904.6	759	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	.	2276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCCCAGT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	21/87	.	.	.	.	.	.	.	.	.	21/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Gly759Asp,ENST00000338368,;PRKDC,missense_variant,p.Gly759Asp,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000541488,;	2333	98	115	SUCCESS
PREX2	80243	.	GRCh37	8	69021775	69021775	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	85	0	ENST00000288368.4:c.3063A>T	p.Glu1021Asp	p.E1021D	ENST00000288368	NM_024870.2	1021	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6201.1	3063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGAAACCCA	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.254)	.	deleterious(0.03)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Glu1021Asp,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;	3340	85	94	SUCCESS
C5	727	.	GRCh37	9	123792742	123792742	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753870842	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	83	356	0	ENST00000223642.1:c.691A>G	p.Ile231Val	p.I231V	ENST00000223642	NM_001735.2	231	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6826.1	691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGATTGAGA	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83	.	.	ENSP00000223642	.	7/41	.	.	.	.	.	.	.	.	rs753870842	7/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.3)	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,missense_variant,p.Ile231Val,ENST00000223642,;C5,non_coding_transcript_exon_variant,,ENST00000460578,;	721	356	173	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39149891	39149891	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747808450	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	246	66	518	2	ENST00000297668.6:c.1561G>A	p.Asp521Asn	p.D521N	ENST00000297668	NM_033655.3	521	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6616.1	1561	RADIA|VARSCANS	.	TTTGTCACCAA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282	.	.	ENSP00000297668	.	10/24	.	.	.	.	.	.	.	.	rs747808450	10/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(1)	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,missense_variant,p.Asp433Asn,ENST00000358144,;CNTNAP3,missense_variant,p.Asp521Asn,ENST00000297668,;CNTNAP3,missense_variant,p.Asp521Asn,ENST00000377656,;CNTNAP3,missense_variant,p.Asp521Asn,ENST00000377659,;CNTNAP3,intron_variant,,ENST00000323947,;CNTNAP3,intron_variant,,ENST00000443583,;RP11-290L7.2,upstream_gene_variant,,ENST00000453646,;	1635	520	312	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43685152	43685152	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	67	0	ENST00000377561.2:n.4G>A		p.*2*	ENST00000377561				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55312.1	.	MUTECT|MUSE	.	GTGAGGAAGAG	NONE	.	.	.	.	.	ENSP00000366787	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,5_prime_UTR_variant,,ENST00000377564,;CNTNAP3B,5_prime_UTR_variant,,ENST00000276974,;CNTNAP3B,5_prime_UTR_variant,,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;	251	67	37	SUCCESS
KIAA2026	158358	.	GRCh37	9	5920263	5920263	+	synonymous_variant	Silent	SNP	G	G	T	rs535663249	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	63	0	ENST00000399933.3:c.5733C>A	p.Leu1911=	p.L1911=	ENST00000399933	NM_001017969.2	1911	ctC/ctA	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	.	5733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGGAGAAC	NONE	by1000G	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	T:0	.	ENSP00000382815	T:0	8/8	.	.	.	.	.	.	.	.	rs535663249,COSM161963	8/8	PASS	ENST00000399933	Transcript	.	T:0.0002	ENSG00000183354	23378	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.001	.	0,1	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,synonymous_variant,p.%3D,ENST00000381461,;KIAA2026,synonymous_variant,p.%3D,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,intron_variant,,ENST00000436015,;	5733	63	47	SUCCESS
DCX	1641	.	GRCh37	X	110644298	110644298	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	56	0	ENST00000338081.3:c.868C>T	p.Gln290Ter	p.Q290*	ENST00000338081	NM_000555.3	290	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14556.1	868	RADIA|VARSCANS	.	GACTTGCTCAA	NONE	.	.	PROSITE_profiles:PS50309,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF70,Gene3D:1mfwA00,Pfam_domain:PF03607,PIRSF_domain:PIRSF037870,SMART_domains:SM00537,Superfamily_domains:SSF89837	.	.	ENSP00000337697	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000338081	Transcript	.	.	ENSG00000077279	2714	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DCX_HUMAN	DCX	HGNC	E7EU50_HUMAN	.	UPI000013D33F	SNV	DCX,stop_gained,p.Gln209Ter,ENST00000371993,;DCX,stop_gained,p.Gln209Ter,ENST00000356220,;DCX,stop_gained,p.Gln290Ter,ENST00000338081,;DCX,stop_gained,p.Gln209Ter,ENST00000488120,;DCX,stop_gained,p.Gln282Ter,ENST00000358070,;DCX,stop_gained,p.Gln209Ter,ENST00000356915,;DCX,non_coding_transcript_exon_variant,,ENST00000496551,;	1040	56	35	SUCCESS
USP6NL	9712	.	GRCh37	10	11532861	11532861	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	56	185	0	ENST00000609104.1:c.513T>A	p.His171Gln	p.H171Q	ENST00000609104	NM_014688.2	171	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS44357.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACATGGAA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF193,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000277575	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000277575	Transcript	.	.	ENSG00000148429	16858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.01)	.	US6NL_HUMAN	USP6NL	HGNC	.	.	UPI0000251ED1	SNV	USP6NL,missense_variant,p.His171Gln,ENST00000609104,;USP6NL,missense_variant,p.His194Gln,ENST00000379237,;USP6NL,missense_variant,p.His188Gln,ENST00000277575,;	607	185	136	SUCCESS
DHTKD1	55526	.	GRCh37	10	12131171	12131171	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs971222205	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	54	0	ENST00000263035.4:c.904C>T	p.Arg302Cys	p.R302C	ENST00000263035	NM_018706.6	302	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7087.1	904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTCGCGGC	NONE	.	.	hmmpanther:PTHR23152,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR00239,PIRSF_domain:PIRSF000157,Superfamily_domains:SSF52518	.	.	ENSP00000263035	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000263035	Transcript	1	.	ENSG00000181192	23537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHTK1_HUMAN	DHTKD1	HGNC	.	.	UPI000013D38C	SNV	DHTKD1,missense_variant,p.Arg237Cys,ENST00000437298,;DHTKD1,missense_variant,p.Arg302Cys,ENST00000263035,;DHTKD1,upstream_gene_variant,,ENST00000415935,;DHTKD1,intron_variant,,ENST00000465617,;	966	54	44	SUCCESS
ZNF33A	7581	.	GRCh37	10	38343322	38343322	+	synonymous_variant	Silent	SNP	C	C	T	rs1365158913	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	50	164	0	ENST00000458705.2:c.267C>T	p.His89=	p.H89=	ENST00000458705		89	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS44372.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACCTGAA	NONE	.	.	hmmpanther:PTHR24377:SF204,hmmpanther:PTHR24377	.	.	ENSP00000363747	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374618	Transcript	.	.	ENSG00000189180	13096	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN33A_HUMAN	ZNF33A	HGNC	.	.	UPI0000161788	SNV	ZNF33A,synonymous_variant,p.%3D,ENST00000432900,;ZNF33A,synonymous_variant,p.%3D,ENST00000307441,;ZNF33A,synonymous_variant,p.%3D,ENST00000469037,;ZNF33A,synonymous_variant,p.%3D,ENST00000458705,;ZNF33A,synonymous_variant,p.%3D,ENST00000374618,;ZNF33A,non_coding_transcript_exon_variant,,ENST00000478556,;	448	164	101	SUCCESS
ZNF239	8187	.	GRCh37	10	44052345	44052346	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	rs770789292	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	170	56	242	0	ENST00000306006.6:c.1182_1183del	p.Arg395SerfsTer18	p.R395Sfs*18	ENST00000306006	NM_005674.2	394	ctCAga/ctga	0	.	.	.	.	.	-	LR/LX	protein_coding	YES	CCDS41502.1	1182-1183	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTCTGAGATG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF114,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000307774	.	2/2	.	.	.	.	.	.	.	.	rs770789292	2/2	PASS	ENST00000306006	Transcript	.	.	ENSG00000196793	13031	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN239_HUMAN	ZNF239	HGNC	.	.	UPI000006DD0E	deletion	ZNF239,frameshift_variant,p.Arg395SerfsTer18,ENST00000374446,;ZNF239,frameshift_variant,p.Arg395SerfsTer18,ENST00000306006,;ZNF239,frameshift_variant,p.Arg395SerfsTer18,ENST00000535642,;ZNF239,frameshift_variant,p.Arg395SerfsTer18,ENST00000426961,;ZNF239,downstream_gene_variant,,ENST00000491188,;	1835-1836	242	226	SUCCESS
PGR	5241	.	GRCh37	11	100998683	100998683	+	synonymous_variant	Silent	SNP	C	C	T	rs984715438	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	125	0	ENST00000325455.5:c.1119G>A	p.Ala373=	p.A373=	ENST00000325455	NM_001202474.3	373	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8310.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTACGCGTC	NONE	.	.	hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161	.	.	ENSP00000325120	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,synonymous_variant,p.%3D,ENST00000263463,;PGR,synonymous_variant,p.%3D,ENST00000325455,;PGR,intron_variant,,ENST00000534013,;PGR,synonymous_variant,p.%3D,ENST00000534780,;PGR,synonymous_variant,p.%3D,ENST00000528960,;PGR,synonymous_variant,p.%3D,ENST00000526300,;	2573	125	98	SUCCESS
SCN3B	55800	.	GRCh37	11	123516374	123516374	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	113	0	ENST00000299333.3:c.140C>T	p.Ser47Phe	p.S47F	ENST00000299333	NM_001040151.1	47	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS8442.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGAGATG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF1,PROSITE_profiles:PS50835	.	.	ENSP00000376523	.	2/6	.	.	.	.	.	.	.	.	COSM1352183	2/6	PASS	ENST00000392770	Transcript	.	.	ENSG00000166257	20665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.963)	.	deleterious(0)	1	SCN3B_HUMAN	SCN3B	HGNC	E9PQS8_HUMAN,E9PJP6_HUMAN	.	UPI00000341C8	SNV	SCN3B,missense_variant,p.Ser47Phe,ENST00000299333,;SCN3B,missense_variant,p.Ser47Phe,ENST00000530277,;SCN3B,missense_variant,p.Ser47Phe,ENST00000392770,;SCN3B,missense_variant,p.Ser47Phe,ENST00000528267,;SCN3B,missense_variant,p.Ser47Phe,ENST00000527836,;SCN3B,upstream_gene_variant,,ENST00000527125,;	943	113	90	SUCCESS
OR10G8	219869	.	GRCh37	11	123900577	123900577	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	484	274	880	2	ENST00000431524.1:c.248T>C	p.Leu83Ser	p.L83S	ENST00000431524	NM_001004464.1	83	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS31704.1	248	RADIA|VARSCANS	.	GACTTTGGTGT	BUFFER|p.T82T|c.246T>G|3	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262	.	.	ENSP00000389072	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000431524	Transcript	.	.	ENSG00000234560	14845	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	O10G8_HUMAN	OR10G8	HGNC	.	.	UPI0000040A8F	SNV	OR10G8,missense_variant,p.Leu83Ser,ENST00000431524,;	281	883	759	SUCCESS
TSPAN18	90139	.	GRCh37	11	44931287	44931287	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs985569616	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	59	0	ENST00000340160.3:c.95T>C	p.Ile32Thr	p.I32T	ENST00000340160	NM_130783.4	32	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7910.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCATCTGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF23,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	.	.	ENSP00000339820	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000340160	Transcript	.	.	ENSG00000157570	20660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0)	.	TSN18_HUMAN	TSPAN18	HGNC	E9PPB7_HUMAN	.	UPI000004A4F4	SNV	TSPAN18,missense_variant,p.Ile36Thr,ENST00000518429,;TSPAN18,missense_variant,p.Ile32Thr,ENST00000520358,;TSPAN18,missense_variant,p.Ile32Thr,ENST00000533202,;TSPAN18,missense_variant,p.Ile32Thr,ENST00000340160,;TSPAN18,missense_variant,p.Ile42Thr,ENST00000520837,;TSPAN18,missense_variant,p.Ile32Thr,ENST00000533786,;TSPAN18,missense_variant,p.Ile42Thr,ENST00000520999,;TSPAN18,intron_variant,,ENST00000533080,;TSPAN18,non_coding_transcript_exon_variant,,ENST00000519051,;TP53I11,intron_variant,,ENST00000354556,;	334	59	49	SUCCESS
ZNF408	79797	.	GRCh37	11	46726465	46726465	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	115	0	ENST00000311764.2:c.1215G>T	p.Gly405=	p.G405=	ENST00000311764	NM_024741.2	405	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7923.1	1215	RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGGTGCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF175,hmmpanther:PTHR24402,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000309606	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311764	Transcript	.	.	ENSG00000175213	20041	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN408_HUMAN	ZNF408	HGNC	.	.	UPI0000132189	SNV	ZNF408,synonymous_variant,p.%3D,ENST00000311764,;ARHGAP1,upstream_gene_variant,,ENST00000311956,;ZNF408,downstream_gene_variant,,ENST00000534481,;ZNF408,downstream_gene_variant,,ENST00000531866,;ZNF408,downstream_gene_variant,,ENST00000527008,;ZNF408,downstream_gene_variant,,ENST00000526410,;ARHGAP1,upstream_gene_variant,,ENST00000529960,;ARHGAP1,upstream_gene_variant,,ENST00000524594,;	1445	115	79	SUCCESS
CELF1	10658	.	GRCh37	11	47504291	47504291	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	77	241	0	ENST00000358597.3:c.643G>T	p.Gly215Ter	p.G215*	ENST00000358597		215	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS53623.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCCCCACA	NONE	.	.	hmmpanther:PTHR24622:SF179,hmmpanther:PTHR24622	.	.	ENSP00000435926	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000532048	Transcript	.	.	ENSG00000149187	2549	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELF1_HUMAN	CELF1	HGNC	F5H4Y5_HUMAN,F5H3J7_HUMAN,F5H0D8_HUMAN,E9PSH0_HUMAN,E9PQK4_HUMAN,E9PKU1_HUMAN,E9PKA1_HUMAN	.	UPI0000D9D8B2	SNV	CELF1,stop_gained,p.Gly214Ter,ENST00000395290,;CELF1,stop_gained,p.Gly215Ter,ENST00000361904,;CELF1,stop_gained,p.Gly242Ter,ENST00000531165,;CELF1,stop_gained,p.Gly215Ter,ENST00000310513,;CELF1,stop_gained,p.Gly241Ter,ENST00000532048,;CELF1,stop_gained,p.Gly215Ter,ENST00000358597,;CELF1,stop_gained,p.Gly215Ter,ENST00000395292,;CELF1,downstream_gene_variant,,ENST00000525841,;CELF1,downstream_gene_variant,,ENST00000535982,;CELF1,downstream_gene_variant,,ENST00000543178,;CELF1,downstream_gene_variant,,ENST00000530151,;CELF1,downstream_gene_variant,,ENST00000528434,;AC090559.1,downstream_gene_variant,,ENST00000578625,;CELF1,non_coding_transcript_exon_variant,,ENST00000422993,;CELF1,non_coding_transcript_exon_variant,,ENST00000532146,;	1615	241	183	SUCCESS
OR51T1	401665	.	GRCh37	11	4903945	4903945	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772529902	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	61	221	0	ENST00000322049.1:c.816G>T	p.Arg272Ser	p.R272S	ENST00000322049		272	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31363.1	897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGGTGCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369738	.	1/1	.	.	.	.	.	.	.	.	rs772529902	1/1	PASS	ENST00000380378	Transcript	.	.	ENSG00000176900	15205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.22)	.	O51T1_HUMAN	OR51T1	HGNC	.	.	UPI000015F1FF	SNV	OR51T1,missense_variant,p.Arg299Ser,ENST00000380378,;OR51T1,missense_variant,p.Arg272Ser,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	897	221	160	SUCCESS
OR8J1	219477	.	GRCh37	11	56127796	56127796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	69	156	0	ENST00000303039.3:c.74T>C	p.Ile25Thr	p.I25T	ENST00000303039	NM_001005205.2	25	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS31529.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATTCCCC	NONE	.	.	hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304060	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303039	Transcript	.	.	ENSG00000172487	14855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.27)	.	OR8J1_HUMAN	OR8J1	HGNC	.	.	UPI000004BE58	SNV	OR8J1,missense_variant,p.Ile25Thr,ENST00000303039,;RPL5P29,downstream_gene_variant,,ENST00000482972,;	106	156	163	SUCCESS
OR8U1	219417	.	GRCh37	11	56143382	56143382	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs77605314	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	30	109	0	ENST00000302270.1:c.283G>T	p.Asp95Tyr	p.D95Y	ENST00000302270	NM_001005204.1	95	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS41647.1	283	SOMATICSNIPER|MUTECT|MUSE	.	CCTTTGATGCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF107,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000304188	.	1/1	.	.	.	.	.	.	.	.	rs77605314	1/1	PASS	ENST00000302270	Transcript	.	.	ENSG00000172199	19611	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	OR8U1_HUMAN	OR8U1	HGNC	.	.	UPI0000061EEF	SNV	OR8U1,missense_variant,p.Asp95Tyr,ENST00000302270,;	283	109	60	SUCCESS
POLR2G	5436	.	GRCh37	11	62532653	62532653	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs765049376	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	11	237	0	ENST00000301788.7:c.283-1G>T		p.X95_splice	ENST00000301788	NM_002696.2	95		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31585.1	.	MUTECT|MUSE	.	TTCTAGGTTGG	NONE	byFrequency	.	.	.	.	ENSP00000301788	.	.	.	.	.	.	.	.	.	.	rs765049376	.	PASS	ENST00000301788	Transcript	.	.	ENSG00000168002	9194	.	.	HIGH	3/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPB7_HUMAN	POLR2G	HGNC	E9PIU7_HUMAN	.	UPI000002926B	SNV	POLR2G,splice_acceptor_variant,,ENST00000533442,;POLR2G,splice_acceptor_variant,,ENST00000301788,;POLR2G,splice_acceptor_variant,,ENST00000531996,;POLR2G,splice_acceptor_variant,,ENST00000526368,;POLR2G,splice_acceptor_variant,,ENST00000524819,;POLR2G,splice_acceptor_variant,,ENST00000525455,;POLR2G,splice_acceptor_variant,,ENST00000527435,;POLR2G,splice_acceptor_variant,,ENST00000531944,;	.	237	168	SUCCESS
PYGM	5837	.	GRCh37	11	64520562	64520562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	167	0	ENST00000164139.3:c.1501G>T	p.Ala501Ser	p.A501S	ENST00000164139	NM_005609.2	501	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8079.1	1501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCCAGCC	NONE	.	.	Superfamily_domains:SSF53756,PIRSF_domain:PIRSF000460,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,Gene3D:3.40.50.2000,hmmpanther:PTHR11468:SF1,hmmpanther:PTHR11468	.	.	ENSP00000164139	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000164139	Transcript	.	.	ENSG00000068976	9726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.64)	.	PYGM_HUMAN	PYGM	HGNC	.	.	UPI000013C5AC	SNV	PYGM,missense_variant,p.Ala501Ser,ENST00000164139,;PYGM,missense_variant,p.Ala413Ser,ENST00000377432,;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,downstream_gene_variant,,ENST00000460413,;PYGM,upstream_gene_variant,,ENST00000483742,;	1900	167	117	SUCCESS
CD248	57124	.	GRCh37	11	66082959	66082959	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	60	171	0	ENST00000311330.3:c.1540C>G	p.Pro514Ala	p.P514A	ENST00000311330	NM_020404.2	514	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS8134.1	1540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCTGGT	NONE	.	.	hmmpanther:PTHR24838:SF269,hmmpanther:PTHR24838	.	.	ENSP00000308117	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311330	Transcript	.	.	ENSG00000174807	18219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.07)	.	CD248_HUMAN	CD248	HGNC	.	.	UPI0000049803	SNV	CD248,missense_variant,p.Pro514Ala,ENST00000311330,;RP11-867G23.13,intron_variant,,ENST00000534065,;	1557	171	143	SUCCESS
DPP3	10072	.	GRCh37	11	66264766	66264766	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs755257218	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	44	0	ENST00000541961.1:c.1699-3C>T		p.X567_splice	ENST00000541961		567		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8141.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCAGGCC	NONE	byFrequency	.	.	.	.	ENSP00000353701	.	.	.	.	.	.	.	.	.	.	rs755257218	.	PASS	ENST00000360510	Transcript	.	.	ENSG00000254986	3008	.	.	LOW	15/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DPP3_HUMAN	DPP3	HGNC	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN	.	UPI000012983B	SNV	DPP3,splice_region_variant,,ENST00000360510,;DPP3,splice_region_variant,,ENST00000530165,;DPP3,splice_region_variant,,ENST00000532677,;DPP3,splice_region_variant,,ENST00000453114,;DPP3,splice_region_variant,,ENST00000541961,;DPP3,splice_region_variant,,ENST00000531863,;DPP3,downstream_gene_variant,,ENST00000533799,;DPP3,downstream_gene_variant,,ENST00000525738,;DPP3,downstream_gene_variant,,ENST00000526250,;DPP3,downstream_gene_variant,,ENST00000526667,;	.	44	42	SUCCESS
SSH3	54961	.	GRCh37	11	67077236	67077236	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	43	0	ENST00000308127.4:c.1209-3C>A		p.X403_splice	ENST00000308127	NM_017857.3	403		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8157.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACAGAGC	NONE	.	.	.	.	.	ENSP00000312081	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308127	Transcript	.	.	ENSG00000172830	30581	.	.	LOW	11/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SSH3_HUMAN	SSH3	HGNC	.	.	UPI0000038D01	SNV	SSH3,splice_region_variant,,ENST00000308127,;SSH3,splice_region_variant,,ENST00000527821,;SSH3,splice_region_variant,,ENST00000376757,;SSH3,intron_variant,,ENST00000308298,;SSH3,splice_region_variant,,ENST00000531495,;SSH3,downstream_gene_variant,,ENST00000529224,;SSH3,downstream_gene_variant,,ENST00000534112,;SSH3,upstream_gene_variant,,ENST00000525913,;SSH3,downstream_gene_variant,,ENST00000532181,;SSH3,splice_region_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	.	43	45	SUCCESS
XRRA1	143570	.	GRCh37	11	74617459	74617459	+	synonymous_variant	Silent	SNP	G	G	T	rs369421169	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	102	324	0	ENST00000340360.6:c.804C>A	p.Ile268=	p.I268=	ENST00000340360	NM_182969.2	268	atC/atA	0	.	C:0	.	C:0	.	T	I	protein_coding	YES	CCDS44680.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGGATCCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR22710,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	C:0	.	ENSP00000339918	C:0	10/19	.	.	.	.	.	.	.	.	rs369421169	10/19	PASS	ENST00000340360	Transcript	.	C:0.0002	ENSG00000166435	18868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	XRRA1_HUMAN	XRRA1	HGNC	E9PJ58_HUMAN	.	UPI0001572CC6	SNV	XRRA1,synonymous_variant,p.%3D,ENST00000528219,;XRRA1,synonymous_variant,p.%3D,ENST00000525407,;XRRA1,synonymous_variant,p.%3D,ENST00000321448,;XRRA1,synonymous_variant,p.%3D,ENST00000527087,;XRRA1,synonymous_variant,p.%3D,ENST00000340360,;XRRA1,downstream_gene_variant,,ENST00000531852,;XRRA1,non_coding_transcript_exon_variant,,ENST00000528819,;RP11-147I3.1,intron_variant,,ENST00000533875,;RP11-147I3.1,upstream_gene_variant,,ENST00000529570,;XRRA1,downstream_gene_variant,,ENST00000533598,;XRRA1,synonymous_variant,p.%3D,ENST00000531849,;XRRA1,intron_variant,,ENST00000530562,;XRRA1,downstream_gene_variant,,ENST00000526047,;XRRA1,upstream_gene_variant,,ENST00000531449,;XRRA1,upstream_gene_variant,,ENST00000529926,;	1136	324	226	SUCCESS
OR5P3	120066	.	GRCh37	11	7846818	7846818	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	61	178	0	ENST00000328375.1:c.702C>A	p.Arg234=	p.R234=	ENST00000328375	NM_153445.1	234	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7783.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGCGGCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF90,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000332068	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328375	Transcript	.	.	ENSG00000182334	14784	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5P3_HUMAN	OR5P3	HGNC	.	.	UPI000004B1F2	SNV	OR5P3,synonymous_variant,p.%3D,ENST00000328375,;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	702	178	137	SUCCESS
C11orf16	56673	.	GRCh37	11	8947426	8947426	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	57	0	ENST00000326053.5:c.788T>C	p.Phe263Ser	p.F263S	ENST00000326053	NM_020643.2	263	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS7794.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGAATGGA	NONE	.	.	hmmpanther:PTHR14343	.	.	ENSP00000318999	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000326053	Transcript	.	.	ENSG00000176029	1169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.331)	.	deleterious(0.03)	.	CK016_HUMAN	C11orf16	HGNC	.	.	UPI0000456489	SNV	C11orf16,missense_variant,p.Phe263Ser,ENST00000326053,;C11orf16,missense_variant,p.Phe263Ser,ENST00000525780,;C11orf16,downstream_gene_variant,,ENST00000526227,;C11orf16,downstream_gene_variant,,ENST00000528998,;C11orf16,downstream_gene_variant,,ENST00000528830,;C11orf16,downstream_gene_variant,,ENST00000527607,;	895	57	44	SUCCESS
SCYL2	55681	.	GRCh37	12	100728028	100728028	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1469022906	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	18	49	0	ENST00000360820.2:c.1846A>G	p.Met616Val	p.M616V	ENST00000360820	NM_017988.4	616	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS9076.1	1846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATAATGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF6	.	.	ENSP00000354061	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000360820	Transcript	.	.	ENSG00000136021	19286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.37)	.	SCYL2_HUMAN	SCYL2	HGNC	F8VSC5_HUMAN,F8VPW3_HUMAN	.	UPI000004FD59	SNV	SCYL2,missense_variant,p.Met616Val,ENST00000360820,;SCYL2,missense_variant,p.Met616Val,ENST00000549687,;SCYL2,3_prime_UTR_variant,,ENST00000548871,;SCYL2,non_coding_transcript_exon_variant,,ENST00000547202,;SCYL2,upstream_gene_variant,,ENST00000547735,;	2283	49	33	SUCCESS
MAGOHB	55110	.	GRCh37	12	10766087	10766087	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	80	0	ENST00000320756.2:c.45C>T	p.His15=	p.H15=	ENST00000320756	NM_018048.3	15	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS8628.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGTGCCC	NONE	.	.	hmmpanther:PTHR12638,Gene3D:1oo0A00,Pfam_domain:PF02792,Superfamily_domains:SSF89817	.	.	ENSP00000319240	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000320756	Transcript	.	.	ENSG00000111196	25504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGN2_HUMAN	MAGOHB	HGNC	F5H6P7_HUMAN	.	UPI00000719E5	SNV	MAGOHB,synonymous_variant,p.%3D,ENST00000320756,;MAGOHB,synonymous_variant,p.%3D,ENST00000381881,;MAGOHB,intron_variant,,ENST00000539554,;MAGOHB,synonymous_variant,p.%3D,ENST00000545236,;MAGOHB,synonymous_variant,p.%3D,ENST00000543929,;MAGOHB,synonymous_variant,p.%3D,ENST00000544850,;MAGOHB,synonymous_variant,p.%3D,ENST00000546173,;MAGOHB,non_coding_transcript_exon_variant,,ENST00000544176,;MAGOHB,non_coding_transcript_exon_variant,,ENST00000537852,;MAGOHB,intron_variant,,ENST00000540074,;	136	80	57	SUCCESS
PIWIL1	9271	.	GRCh37	12	130842075	130842075	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	21	204	0	ENST00000245255.3:c.1642A>G	p.Lys548Glu	p.K548E	ENST00000245255	NM_004764.4	548	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9268.1	1642	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAAAGGTC	NONE	.	.	Superfamily_domains:SSF53098,Gene3D:3.40.50.2300,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31	.	.	ENSP00000245255	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000245255	Transcript	.	.	ENSG00000125207	9007	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.17)	.	PIWL1_HUMAN	PIWIL1	HGNC	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN	.	UPI000007059F	SNV	PIWIL1,missense_variant,p.Lys548Glu,ENST00000245255,;	1914	205	162	SUCCESS
OVCH1	341350	.	GRCh37	12	29649135	29649142	+	frameshift_variant	Frame_Shift_Del	DEL	TGTGCTGC	TGTGCTGC	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	TGTGCTGC	TGTGCTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	72	0	ENST00000318184.5:c.253_260del	p.Ala85LeufsTer7	p.A85Lfs*7	ENST00000318184	NM_183378.2	85	GCAGCACAc/c	0	.	.	.	.	.	-	AAH/X	protein_coding	YES	.	253-260	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCAGTGTGCTGCTGTAA	NONE	.	.	PROSITE_profiles:PS50240,PROSITE_patterns:PS00134,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000326708	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	deletion	OVCH1,frameshift_variant,p.Ala85LeufsTer7,ENST00000318184,;TMTC1,downstream_gene_variant,,ENST00000256062,;	253-260	72	59	SUCCESS
HTR2A	3356	.	GRCh37	13	47409332	47409332	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	46	185	0	ENST00000378688.4:c.1056C>T	p.Ser352=	p.S352=	ENST00000378688		352	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9405.1	1056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGGACTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF30,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000367959	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000378688	Transcript	.	.	ENSG00000102468	5293	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT2A_HUMAN	HTR2A	HGNC	Q9P2Q9_HUMAN,B3VRC0_HUMAN,B3VRB5_HUMAN,B3VRB0_HUMAN	.	UPI000000126E	SNV	HTR2A,synonymous_variant,p.%3D,ENST00000378688,;HTR2A,synonymous_variant,p.%3D,ENST00000542664,;HTR2A,synonymous_variant,p.%3D,ENST00000543956,;	1188	185	145	SUCCESS
FANCM	57697	.	GRCh37	14	45665463	45665463	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	56	174	0	ENST00000267430.5:c.5429G>T	p.Arg1810Ile	p.R1810I	ENST00000267430	NM_020937.2	1810	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS32070.1	5429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGACTTC	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	tolerated(0.12)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Arg778Ile,ENST00000554809,;FANCM,missense_variant,p.Arg1784Ile,ENST00000542564,;FANCM,missense_variant,p.Arg1326Ile,ENST00000556250,;FANCM,missense_variant,p.Arg1810Ile,ENST00000267430,;FANCM,upstream_gene_variant,,ENST00000555484,;FANCM,missense_variant,p.Arg30Ile,ENST00000557110,;FANCM,upstream_gene_variant,,ENST00000553551,;	5514	174	122	SUCCESS
SAV1	60485	.	GRCh37	14	51107527	51107527	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	77	316	0	ENST00000324679.4:c.891T>A	p.Asn297Lys	p.N297K	ENST00000324679	NM_021818.3	297	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS9701.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGATTTGC	NONE	.	.	hmmpanther:PTHR10316	.	.	ENSP00000324729	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000324679	Transcript	.	.	ENSG00000151748	17795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0)	.	SAV1_HUMAN	SAV1	HGNC	B3KTQ1_HUMAN	.	UPI0000035DA2	SNV	SAV1,missense_variant,p.Asn297Lys,ENST00000324679,;SAV1,missense_variant,p.Asn229Lys,ENST00000555720,;SAV1,intron_variant,,ENST00000553731,;SAV1,intron_variant,,ENST00000557458,;RN7SL452P,upstream_gene_variant,,ENST00000482923,;	1255	316	240	SUCCESS
DACT1	51339	.	GRCh37	14	59112430	59112430	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs776288208	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	65	0	ENST00000335867.4:c.1089C>G	p.Asn363Lys	p.N363K	ENST00000335867		363	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS9736.1	1089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAACGCTGA	NONE	byFrequency	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268	.	.	ENSP00000337439	.	4/4	.	.	.	.	.	.	.	.	rs776288208	4/4	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0.02)	.	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	SNV	DACT1,missense_variant,p.Asn363Lys,ENST00000335867,;DACT1,missense_variant,p.Asn326Lys,ENST00000395153,;DACT1,missense_variant,p.Asn82Lys,ENST00000556859,;DACT1,missense_variant,p.Asn82Lys,ENST00000421793,;DACT1,missense_variant,p.Asn82Lys,ENST00000541264,;DACT1,downstream_gene_variant,,ENST00000555845,;	1113	66	66	SUCCESS
TGFB3	7043	.	GRCh37	14	76437499	76437499	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	55	0	ENST00000238682.3:c.616G>C	p.Asp206His	p.D206H	ENST00000238682	NM_003239.2	206	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS9846.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCAGTGA	NONE	.	.	hmmpanther:PTHR11848:SF34,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423	.	.	ENSP00000238682	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000238682	Transcript	.	.	ENSG00000119699	11769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	tolerated(0.08)	.	TGFB3_HUMAN	TGFB3	HGNC	Q8WV88_HUMAN,Q6TV16_HUMAN,Q6TV15_HUMAN,Q6TV14_HUMAN,Q6LDJ6_HUMAN,A5YM40_HUMAN	.	UPI000000D8EC	SNV	TGFB3,missense_variant,p.Asp206His,ENST00000556285,;TGFB3,missense_variant,p.Asp206His,ENST00000238682,;RP11-270M14.5,non_coding_transcript_exon_variant,,ENST00000553732,;TGFB3,upstream_gene_variant,,ENST00000557493,;IFT43,intron_variant,,ENST00000555677,;TGFB3,upstream_gene_variant,,ENST00000554980,;	914	55	40	SUCCESS
GPATCH2L	55668	.	GRCh37	14	76662254	76662254	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	70	0	ENST00000261530.7:c.1227A>G	p.Ser409=	p.S409=	ENST00000261530	NM_017926.2	409	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9848.1	1227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCACGTGA	NONE	.	.	hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF3	.	.	ENSP00000261530	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000261530	Transcript	.	.	ENSG00000089916	20210	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPT2L_HUMAN	GPATCH2L	HGNC	G3V5D0_HUMAN	.	UPI000006FA38	SNV	GPATCH2L,missense_variant,p.His30Arg,ENST00000553588,;GPATCH2L,missense_variant,p.His30Arg,ENST00000554799,;GPATCH2L,synonymous_variant,p.%3D,ENST00000312858,;GPATCH2L,synonymous_variant,p.%3D,ENST00000261530,;GPATCH2L,5_prime_UTR_variant,,ENST00000556372,;GPATCH2L,non_coding_transcript_exon_variant,,ENST00000556675,;GPATCH2L,3_prime_UTR_variant,,ENST00000554375,;	1293	70	46	SUCCESS
NPAP1	23742	.	GRCh37	15	24921405	24921405	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764805101	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	35	0	ENST00000329468.2:c.391C>A	p.Arg131Ser	p.R131S	ENST00000329468	NM_018958.2	131	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS10015.1	391	MUTECT|MUSE	.	CACCACGTGAG	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	rs764805101,COSM959921	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.003)	.	tolerated(0.67)	0,1	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Arg131Ser,ENST00000329468,;	865	35	31	SUCCESS
PAK6	56924	.	GRCh37	15	40565801	40565801	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756662143	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	50	219	0	ENST00000260404.4:c.1667C>A	p.Pro556His	p.P556H	ENST00000260404	NM_020168.5	556	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS10054.1	1667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCCTAAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF182,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000453858	.	9/11	.	.	.	.	.	.	.	.	rs756662143	9/11	PASS	ENST00000560346	Transcript	.	.	ENSG00000137843	16061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PAK6_HUMAN	PAK6	HGNC	H0YMS4_HUMAN,H0YM99_HUMAN,H0YLZ9_HUMAN,H0YL16_HUMAN,H0YK91_HUMAN,H0YK74_HUMAN	.	UPI0000001C3B	SNV	PAK6,missense_variant,p.Pro556His,ENST00000260404,;PAK6,missense_variant,p.Pro556His,ENST00000560346,;PAK6,missense_variant,p.Pro556His,ENST00000453867,;PAK6,missense_variant,p.Pro556His,ENST00000542403,;PAK6,missense_variant,p.Pro556His,ENST00000441369,;PAK6,missense_variant,p.Pro556His,ENST00000455577,;PAK6,downstream_gene_variant,,ENST00000557926,;RP11-133K1.2,3_prime_UTR_variant,,ENST00000558658,;RP11-133K1.2,non_coding_transcript_exon_variant,,ENST00000559936,;RP11-133K1.2,non_coding_transcript_exon_variant,,ENST00000558965,;PAK6,upstream_gene_variant,,ENST00000557808,;PLCB2,downstream_gene_variant,,ENST00000560009,;	2250	219	176	SUCCESS
PDXDC1	23042	.	GRCh37	16	15103555	15103555	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	68	458	0	ENST00000396410.4:c.666G>A	p.Glu222=	p.E222=	ENST00000396410	NM_015027.2	222	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS32393.1	666	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGAAACT	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73,Gene3D:3.40.640.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383	.	.	ENSP00000379691	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000396410	Transcript	.	.	ENSG00000179889	28995	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDXD1_HUMAN	PDXDC1	HGNC	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN	.	UPI000004A864	SNV	PDXDC1,synonymous_variant,p.%3D,ENST00000569715,;PDXDC1,synonymous_variant,p.%3D,ENST00000325823,;PDXDC1,synonymous_variant,p.%3D,ENST00000535621,;PDXDC1,synonymous_variant,p.%3D,ENST00000567306,;PDXDC1,synonymous_variant,p.%3D,ENST00000447912,;PDXDC1,synonymous_variant,p.%3D,ENST00000563679,;PDXDC1,synonymous_variant,p.%3D,ENST00000396410,;PDXDC1,synonymous_variant,p.%3D,ENST00000455313,;PDXDC1,synonymous_variant,p.%3D,ENST00000450288,;PDXDC1,downstream_gene_variant,,ENST00000563667,;PDXDC1,downstream_gene_variant,,ENST00000563522,;MIR1972-1,downstream_gene_variant,,ENST00000459337,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000561930,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,intron_variant,,ENST00000562119,;PDXDC1,downstream_gene_variant,,ENST00000565362,;	763	458	321	SUCCESS
C16orf82	162083	.	GRCh37	16	27078698	27078698	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	33	0	ENST00000505035.1:n.671G>T		p.*224*	ENST00000505035				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGCTCC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000505035	Transcript	.	.	ENSG00000234186	30755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C16orf82	HGNC	.	.	.	SNV	C16orf82,non_coding_transcript_exon_variant,,ENST00000505035,;C16orf82,non_coding_transcript_exon_variant,,ENST00000418886,;RP11-673P17.2,intron_variant,,ENST00000565783,;	671	33	30	SUCCESS
ZNF267	10308	.	GRCh37	16	31926035	31926035	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	70	198	0	ENST00000300870.10:c.465T>G	p.Ser155=	p.S155=	ENST00000300870	NM_003414.5	155	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS32440.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTGTGC	NONE	.	.	hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377	.	.	ENSP00000300870	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300870	Transcript	.	.	ENSG00000185947	13060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN267_HUMAN	ZNF267	HGNC	H3BPW2_HUMAN	.	UPI000045696F	SNV	ZNF267,synonymous_variant,p.%3D,ENST00000300870,;ZNF267,3_prime_UTR_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000561814,;ZNF267,downstream_gene_variant,,ENST00000566541,;	674	198	193	SUCCESS
CMTM2	146225	.	GRCh37	16	66613710	66613710	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	96	0	ENST00000268595.2:c.200G>T	p.Gly67Val	p.G67V	ENST00000268595	NM_144673.2	67	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10814.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGGTGTC	NONE	.	.	hmmpanther:PTHR22776:SF15,hmmpanther:PTHR22776	.	.	ENSP00000268595	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000268595	Transcript	.	.	ENSG00000140932	19173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CKLF2_HUMAN	CMTM2	HGNC	.	.	UPI0000073CB1	SNV	CMTM2,missense_variant,p.Gly67Val,ENST00000268595,;CMTM2,missense_variant,p.Gly67Val,ENST00000379486,;CMTM1,downstream_gene_variant,,ENST00000379500,;CMTM1,downstream_gene_variant,,ENST00000528324,;CMTM1,downstream_gene_variant,,ENST00000529506,;CMTM1,downstream_gene_variant,,ENST00000531885,;CMTM1,downstream_gene_variant,,ENST00000533953,;CMTM1,downstream_gene_variant,,ENST00000332695,;CKLF-CMTM1,downstream_gene_variant,,ENST00000527729,;CMTM1,downstream_gene_variant,,ENST00000328020,;CMTM1,downstream_gene_variant,,ENST00000533666,;CMTM1,downstream_gene_variant,,ENST00000336328,;CKLF-CMTM1,downstream_gene_variant,,ENST00000529718,;CMTM1,downstream_gene_variant,,ENST00000457188,;RP11-403P17.2,downstream_gene_variant,,ENST00000568430,;CMTM2,intron_variant,,ENST00000569316,;CMTM1,downstream_gene_variant,,ENST00000533078,;CMTM1,downstream_gene_variant,,ENST00000528484,;CMTM1,downstream_gene_variant,,ENST00000465057,;CMTM1,downstream_gene_variant,,ENST00000529386,;CMTM1,downstream_gene_variant,,ENST00000528441,;CMTM1,downstream_gene_variant,,ENST00000533915,;CMTM1,downstream_gene_variant,,ENST00000333001,;CMTM1,downstream_gene_variant,,ENST00000530141,;CMTM1,downstream_gene_variant,,ENST00000534143,;CMTM1,downstream_gene_variant,,ENST00000479381,;	351	96	80	SUCCESS
FAM65A	0	.	GRCh37	16	67572365	67572365	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1413114941	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	50	120	0	ENST00000422602.2:c.76G>A	p.Val26Met	p.V26M	ENST00000422602	NM_001193523.1	26	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54026.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGGTGCGG	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1	.	.	ENSP00000400099	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000422602	Transcript	.	.	ENSG00000039523	25836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	deleterious(0.02)	.	FA65A_HUMAN	FAM65A	HGNC	H3BQI5_HUMAN,H3BV02_HUMAN,H3BUP6_HUMAN,H3BSV5_HUMAN,H3BS40_HUMAN	.	UPI0001AE68C6	SNV	FAM65A,missense_variant,p.Val20Met,ENST00000428437,;FAM65A,missense_variant,p.Val6Met,ENST00000566559,;FAM65A,missense_variant,p.Val20Met,ENST00000569253,;FAM65A,missense_variant,p.Val26Met,ENST00000422602,;FAM65A,missense_variant,p.Val26Met,ENST00000540839,;FAM65A,missense_variant,p.Val6Met,ENST00000042381,;FAM65A,missense_variant,p.Val6Met,ENST00000562755,;FAM65A,missense_variant,p.Val6Met,ENST00000566920,;FAM65A,missense_variant,p.Val6Met,ENST00000565176,;FAM65A,missense_variant,p.Val6Met,ENST00000379312,;FAM65A,missense_variant,p.Val26Met,ENST00000566907,;FAM65A,missense_variant,p.Val6Met,ENST00000562116,;FAM65A,upstream_gene_variant,,ENST00000569179,;CTD-2012K14.4,downstream_gene_variant,,ENST00000564717,;CTD-2012K14.3,downstream_gene_variant,,ENST00000563083,;CTD-2012K14.2,downstream_gene_variant,,ENST00000567122,;FAM65A,intron_variant,,ENST00000566522,;FAM65A,upstream_gene_variant,,ENST00000569733,;FAM65A,upstream_gene_variant,,ENST00000561534,;FAM65A,upstream_gene_variant,,ENST00000569474,;FAM65A,upstream_gene_variant,,ENST00000564616,;FAM65A,upstream_gene_variant,,ENST00000566730,;FAM65A,upstream_gene_variant,,ENST00000566815,;	172	120	107	SUCCESS
HPR	3250	.	GRCh37	16	72110626	72110626	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	60	209	0	ENST00000540303.2:c.693C>T	p.Asn231=	p.N231=	ENST00000540303	NM_020995.3	231	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS42193.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAACTTTAA	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,PIRSF_domain:PIRSF001137,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24265:SF25,hmmpanther:PTHR24265,PROSITE_profiles:PS50240	.	.	ENSP00000441828	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000540303	Transcript	.	.	ENSG00000261701	5156	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPTR_HUMAN	HPR	HGNC	Q14552_HUMAN	.	UPI000034ECF8	SNV	HPR,synonymous_variant,p.%3D,ENST00000228226,;HPR,synonymous_variant,p.%3D,ENST00000356967,;HPR,synonymous_variant,p.%3D,ENST00000540303,;HPR,intron_variant,,ENST00000561690,;TXNL4B,intron_variant,,ENST00000562153,;HPR,downstream_gene_variant,,ENST00000566168,;	725	209	131	SUCCESS
MON1B	22879	.	GRCh37	16	77228415	77228415	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780179568	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	105	0	ENST00000248248.3:c.659G>A	p.Arg220His	p.R220H	ENST00000248248	NM_014940.2	220	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10925.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCCTGC	NONE	.	.	Prints_domain:PR01546,Pfam_domain:PF03164,hmmpanther:PTHR13027:SF13,hmmpanther:PTHR13027	.	.	ENSP00000248248	.	4/6	.	.	.	.	.	.	.	.	rs780179568,COSM1257870	4/6	PASS	ENST00000248248	Transcript	.	.	ENSG00000103111	25020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	MON1B_HUMAN	MON1B	HGNC	H3BUX9_HUMAN,H3BU99_HUMAN,H3BR21_HUMAN,H3BPL8_HUMAN	.	UPI0000072AD7	SNV	MON1B,missense_variant,p.Arg220His,ENST00000248248,;MON1B,missense_variant,p.Arg74His,ENST00000545553,;MON1B,missense_variant,p.Arg220His,ENST00000567291,;MON1B,missense_variant,p.Arg111His,ENST00000439557,;MON1B,intron_variant,,ENST00000320859,;SYCE1L,upstream_gene_variant,,ENST00000378644,;MON1B,downstream_gene_variant,,ENST00000563612,;MON1B,downstream_gene_variant,,ENST00000563279,;MON1B,downstream_gene_variant,,ENST00000569610,;MON1B,3_prime_UTR_variant,,ENST00000564006,;MON1B,non_coding_transcript_exon_variant,,ENST00000566455,;MON1B,downstream_gene_variant,,ENST00000566963,;	1009	105	82	SUCCESS
MBTPS1	8720	.	GRCh37	16	84124541	84124541	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778500373	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	60	166	0	ENST00000343411.3:c.970G>A	p.Glu324Lys	p.E324K	ENST00000343411	NM_003791.2	324	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10941.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCCCACA	NONE	.	.	Superfamily_domains:SSF52743,Pfam_domain:PF00082,Gene3D:3.40.50.200,hmmpanther:PTHR10795:SF30,hmmpanther:PTHR10795	.	.	ENSP00000344223	.	8/23	.	.	.	.	.	.	.	.	rs778500373	8/23	PASS	ENST00000343411	Transcript	.	.	ENSG00000140943	15456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MBTP1_HUMAN	MBTPS1	HGNC	H3BV53_HUMAN	.	UPI0000033348	SNV	MBTPS1,missense_variant,p.Glu65Lys,ENST00000570012,;MBTPS1,missense_variant,p.Glu324Lys,ENST00000343411,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000569770,;MBTPS1,upstream_gene_variant,,ENST00000565863,;MBTPS1,missense_variant,p.Glu22Lys,ENST00000563231,;	1466	166	141	SUCCESS
LRRC37BP1	147172	.	GRCh37	17	28960380	28960380	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	52	190	0	ENST00000417404.1:n.1241A>T		p.*414*	ENST00000417404				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAATGAAC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000417404	Transcript	.	.	ENSG00000250462	25390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LRRC37BP1	HGNC	.	.	.	SNV	LRRC37BP1,non_coding_transcript_exon_variant,,ENST00000412831,;AC005562.1,non_coding_transcript_exon_variant,,ENST00000431308,;AC005562.1,non_coding_transcript_exon_variant,,ENST00000398849,;LRRC37BP1,non_coding_transcript_exon_variant,,ENST00000417404,;AC005562.1,non_coding_transcript_exon_variant,,ENST00000440026,;AC005562.1,intron_variant,,ENST00000578265,;LRRC37BP1,non_coding_transcript_exon_variant,,ENST00000398851,;	1241	190	123	SUCCESS
EFCAB13	124989	.	GRCh37	17	45479548	45479548	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758376019	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	123	1	ENST00000331493.2:c.1996C>T	p.Arg666Cys	p.R666C	ENST00000331493	NM_152347.4	666	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11512.1	1996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGCGTGAT	NONE	.	.	hmmpanther:PTHR22656,Gene3D:1.10.238.10	.	.	ENSP00000332111	.	18/25	.	.	.	.	.	.	.	.	rs758376019	18/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.23)	.	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,missense_variant,p.Arg570Cys,ENST00000517484,;EFCAB13,missense_variant,p.Arg666Cys,ENST00000331493,;EFCAB13,intron_variant,,ENST00000523842,;	2407	125	89	SUCCESS
EFCAB13	124989	.	GRCh37	17	45479563	45479563	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	38	108	0	ENST00000331493.2:c.2012del	p.Leu671Ter	p.L671*	ENST00000331493	NM_152347.4	671	Tta/ta	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS11512.1	2011	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGGTTAGAA	NONE	.	.	hmmpanther:PTHR22656,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000332111	.	18/25	.	.	.	.	.	.	.	.	COSM3518552	18/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	deletion	EFCAB13,frameshift_variant,p.Leu575Ter,ENST00000517484,;EFCAB13,frameshift_variant,p.Leu671Ter,ENST00000331493,;EFCAB13,intron_variant,,ENST00000523842,;	2422	108	123	SUCCESS
ACSF2	80221	.	GRCh37	17	48551103	48551103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	97	0	ENST00000300441.4:c.1553A>G	p.Glu518Gly	p.E518G	ENST00000300441	NM_025149.4	518	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS11567.1	1553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGAGAACA	NONE	.	.	hmmpanther:PTHR24095,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	.	.	ENSP00000300441	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000300441	Transcript	.	.	ENSG00000167107	26101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACSF2_HUMAN	ACSF2	HGNC	B4DUF5_HUMAN	.	UPI0000049DEF	SNV	ACSF2,missense_variant,p.Glu475Gly,ENST00000504392,;ACSF2,missense_variant,p.Glu358Gly,ENST00000541920,;ACSF2,missense_variant,p.Glu505Gly,ENST00000502667,;ACSF2,missense_variant,p.Glu543Gly,ENST00000427954,;ACSF2,missense_variant,p.Glu518Gly,ENST00000300441,;CHAD,upstream_gene_variant,,ENST00000258969,;CHAD,upstream_gene_variant,,ENST00000508540,;ACSF2,non_coding_transcript_exon_variant,,ENST00000512119,;ACSF2,non_coding_transcript_exon_variant,,ENST00000506085,;ACSF2,non_coding_transcript_exon_variant,,ENST00000513544,;ACSF2,non_coding_transcript_exon_variant,,ENST00000511147,;ACSF2,downstream_gene_variant,,ENST00000508734,;ACSF2,downstream_gene_variant,,ENST00000509806,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,3_prime_UTR_variant,,ENST00000508245,;ACSF2,non_coding_transcript_exon_variant,,ENST00000512537,;ACSF2,non_coding_transcript_exon_variant,,ENST00000503295,;ACSF2,downstream_gene_variant,,ENST00000507769,;ACSF2,downstream_gene_variant,,ENST00000513101,;ACSF2,downstream_gene_variant,,ENST00000503387,;ACSF2,downstream_gene_variant,,ENST00000510262,;ACSF2,upstream_gene_variant,,ENST00000507792,;ACSF2,downstream_gene_variant,,ENST00000511288,;	1657	97	84	SUCCESS
TBX4	9496	.	GRCh37	17	59560737	59560737	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	109	0	ENST00000240335.1:c.1498G>A	p.Gly500Arg	p.G500R	ENST00000240335	NM_018488.2	500	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS11629.1	1498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGGGTGT	NONE	.	.	hmmpanther:PTHR11267:SF29,hmmpanther:PTHR11267	.	.	ENSP00000240335	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240335	Transcript	.	.	ENSG00000121075	11603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated_low_confidence(0.07)	.	TBX4_HUMAN	TBX4	HGNC	K7EPY2_HUMAN	.	UPI000013CAA9	SNV	TBX4,missense_variant,p.Gly500Arg,ENST00000240335,;TBX4,missense_variant,p.Gly501Arg,ENST00000393853,;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,downstream_gene_variant,,ENST00000586874,;TBX4,downstream_gene_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,downstream_gene_variant,,ENST00000590174,;	1543	109	77	SUCCESS
RGS9	8787	.	GRCh37	17	63198195	63198195	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	88	0	ENST00000262406.9:c.1061A>T	p.Tyr354Phe	p.Y354F	ENST00000262406	NM_003835.3	354	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS42373.1	1061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTACAAGT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF20,hmmpanther:PTHR10845,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000262406	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000262406	Transcript	.	.	ENSG00000108370	10004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.29)	.	tolerated(0.12)	.	RGS9_HUMAN	RGS9	HGNC	.	.	UPI000013382A	SNV	RGS9,missense_variant,p.Tyr354Phe,ENST00000262406,;RGS9,missense_variant,p.Tyr351Phe,ENST00000443584,;RGS9,missense_variant,p.Tyr351Phe,ENST00000449996,;RGS9,missense_variant,p.Tyr354Phe,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;	1128	88	78	SUCCESS
ZNF536	9745	.	GRCh37	19	30934910	30934910	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	61	0	ENST00000355537.3:c.441G>C	p.Leu147=	p.L147=	ENST00000355537	NM_014717.1	147	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS32984.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000585628,;ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	588	61	62	SUCCESS
MAP3K10	4294	.	GRCh37	19	40704415	40704415	+	synonymous_variant	Silent	SNP	G	G	A	rs750198182	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	101	0	ENST00000253055.3:c.816G>A	p.Pro272=	p.P272=	ENST00000253055	NM_002446.3	272	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12549.1	816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGGAGGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000253055	.	2/10	.	.	.	.	.	.	.	.	rs750198182	2/10	PASS	ENST00000253055	Transcript	.	.	ENSG00000130758	6849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K10_HUMAN	MAP3K10	HGNC	.	.	UPI000013CDAC	SNV	MAP3K10,synonymous_variant,p.%3D,ENST00000253055,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000593906,;MAP3K10,missense_variant,p.Gly29Arg,ENST00000593502,;MAP3K10,synonymous_variant,p.%3D,ENST00000597986,;MAP3K10,synonymous_variant,p.%3D,ENST00000594951,;	1104	101	55	SUCCESS
HIF3A	64344	.	GRCh37	19	46832675	46832675	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	48	0	ENST00000377670.4:c.1652G>T	p.Cys551Phe	p.C551F	ENST00000377670	NM_152795.3	551	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS12681.2	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043	.	.	ENSP00000366898	.	12/15	.	.	.	.	.	.	.	.	COSM40175	12/15	PASS	ENST00000377670	Transcript	.	.	ENSG00000124440	15825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.352)	.	tolerated_low_confidence(0.07)	1	HIF3A_HUMAN	HIF3A	HGNC	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN	.	UPI00002026E2	SNV	HIF3A,missense_variant,p.Cys500Phe,ENST00000420102,;HIF3A,missense_variant,p.Cys551Phe,ENST00000377670,;HIF3A,missense_variant,p.Cys549Phe,ENST00000300862,;HIF3A,missense_variant,p.Cys482Phe,ENST00000600383,;HIF3A,missense_variant,p.Cys482Phe,ENST00000244303,;HIF3A,missense_variant,p.Cys495Phe,ENST00000339613,;HIF3A,intron_variant,,ENST00000472815,;AC007193.10,intron_variant,,ENST00000596807,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529542,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,downstream_gene_variant,,ENST00000528563,;	1683	48	48	SUCCESS
PPFIA3	8541	.	GRCh37	19	49631685	49631685	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	90	0	ENST00000334186.4:c.302A>G	p.Glu101Gly	p.E101G	ENST00000334186	NM_003660.3	101	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12758.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAAGAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4	.	.	ENSP00000335614	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000334186	Transcript	.	.	ENSG00000177380	9247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LIPA3_HUMAN	PPFIA3	HGNC	R4GNF1_HUMAN	.	UPI00001AE464	SNV	PPFIA3,missense_variant,p.Glu101Gly,ENST00000334186,;PPFIA3,missense_variant,p.Glu101Gly,ENST00000602351,;PPFIA3,missense_variant,p.Glu101Gly,ENST00000602509,;PPFIA3,missense_variant,p.Glu101Gly,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602492,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602716,;PPFIA3,upstream_gene_variant,,ENST00000602726,;	651	91	78	SUCCESS
ZNF772	400720	.	GRCh37	19	57987070	57987075	+	inframe_deletion	In_Frame_Del	DEL	GGTACA	GGTACA	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	GGTACA	GGTACA	.	.	.	.	.	.	.	.	.	.	.	.	.	98	68	213	0	ENST00000343280.4:c.152_157del	p.Leu51_Tyr52del	p.L51_Y52del	ENST00000343280	NM_001024596.2	51	cTGTACCgt/cgt	0	.	.	.	.	.	-	LYR/R	protein_coding	YES	.	152-157	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCACGGTACAGGAGC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24397,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000470969	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000596831	Transcript	.	.	ENSG00000268163	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC004076.9	Clone_based_vega_gene	M0R036_HUMAN	.	UPI00005789EF	deletion	AC004076.9,inframe_deletion,p.Leu51_Tyr52del,ENST00000596831,;ZNF772,inframe_deletion,p.Leu51_Tyr52del,ENST00000343280,;ZNF772,inframe_deletion,p.Leu51_Tyr52del,ENST00000356584,;ZNF772,intron_variant,,ENST00000600175,;ZNF772,intron_variant,,ENST00000425074,;ZNF772,intron_variant,,ENST00000601768,;ZNF772,intron_variant,,ENST00000427512,;AC003005.2,upstream_gene_variant,,ENST00000595422,;AC003005.2,upstream_gene_variant,,ENST00000594562,;AC004076.9,intron_variant,,ENST00000415705,;ZNF772,downstream_gene_variant,,ENST00000450712,;	346-351	213	166	SUCCESS
A1BG	1	.	GRCh37	19	58864542	58864542	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs751232743	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	37	101	0	ENST00000263100.3:c.92T>A	p.Leu31Gln	p.L31Q	ENST00000263100	NM_130786.3	31	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12976.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGGCTG	NONE	.	.	hmmpanther:PTHR11738:SF3,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000263100	.	3/8	.	.	.	.	.	.	.	.	rs751232743	3/8	PASS	ENST00000263100	Transcript	.	.	ENSG00000121410	5	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	SNV	A1BG,missense_variant,p.Leu31Gln,ENST00000263100,;A1BG,upstream_gene_variant,,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,;ZNF497,downstream_gene_variant,,ENST00000595763,;ZNF497,downstream_gene_variant,,ENST00000425453,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000595302,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000599728,;CTD-2619J13.9,upstream_gene_variant,,ENST00000599952,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;	154	101	73	SUCCESS
MISP	126353	.	GRCh37	19	758698	758698	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754524089	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	102	0	ENST00000215582.6:c.1752G>T	p.Gln584His	p.Q584H	ENST00000215582	NM_173481.2	584	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS12042.1	1752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGAACTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	rs754524089	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.1)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Gln584His,ENST00000215582,;	1855	102	88	SUCCESS
MISP	126353	.	GRCh37	19	758699	758699	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	101	0	ENST00000215582.6:c.1753A>G	p.Asn585Asp	p.N585D	ENST00000215582	NM_173481.2	585	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS12042.1	1753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGAACTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Asn585Asp,ENST00000215582,;	1856	101	87	SUCCESS
ADAMTS10	81794	.	GRCh37	19	8651042	8651042	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	58	0	ENST00000597188.1:c.2624G>A	p.Arg875Lys	p.R875K	ENST00000597188	NM_030957.2	875	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS12206.1	2624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCTTTTG	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723:SF26,hmmpanther:PTHR13723,PROSITE_profiles:PS50092	.	.	ENSP00000270328	.	21/25	.	.	.	.	.	.	.	.	COSM3893965	21/25	PASS	ENST00000270328	Transcript	1	.	ENSG00000142303	13201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.73)	1	ATS10_HUMAN	ADAMTS10	HGNC	.	.	UPI000013D883	SNV	ADAMTS10,missense_variant,p.Arg875Lys,ENST00000597188,;ADAMTS10,missense_variant,p.Arg875Lys,ENST00000270328,;ADAMTS10,missense_variant,p.Arg362Lys,ENST00000595838,;AC130469.2,downstream_gene_variant,,ENST00000597256,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;ADAMTS10,downstream_gene_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000593826,;	2891	58	51	SUCCESS
ZNF559-ZNF177	100529215	.	GRCh37	19	9492041	9492041	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	114	0	ENST00000541595.2:c.554G>A	p.Cys185Tyr	p.C185Y	ENST00000541595	NM_001172650.2	185	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS54214.1	1034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGTGGGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF126,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000415070	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434737	Transcript	.	.	ENSG00000188629	12966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN177_HUMAN	ZNF177	HGNC	.	.	UPI0001AE6431	SNV	ZNF177,missense_variant,p.Cys345Tyr,ENST00000434737,;ZNF177,missense_variant,p.Cys345Tyr,ENST00000589262,;ZNF177,missense_variant,p.Cys185Tyr,ENST00000343499,;ZNF177,missense_variant,p.Cys185Tyr,ENST00000602738,;ZNF559-ZNF177,missense_variant,p.Cys185Tyr,ENST00000541595,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000446085,;ZNF177,3_prime_UTR_variant,,ENST00000602856,;ZNF177,intron_variant,,ENST00000590616,;ZNF177,downstream_gene_variant,,ENST00000592912,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603656,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605471,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000593242,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605775,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000604543,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603974,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603024,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000604886,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605093,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605006,;	1090	114	65	SUCCESS
AMPD2	271	.	GRCh37	1	110171048	110171048	+	synonymous_variant	Silent	SNP	C	C	T	rs772949801	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	46	0	ENST00000256578.3:c.1500C>T	p.Ser500=	p.S500=	ENST00000256578	NM_004037.7	500	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS805.1	1500	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCCGTCCT	NONE	.	.	hmmpanther:PTHR11359:SF3,hmmpanther:PTHR11359,Gene3D:3.20.20.140,Pfam_domain:PF00962,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	.	.	ENSP00000256578	.	11/18	.	.	.	.	.	.	.	.	rs772949801	11/18	PASS	ENST00000256578	Transcript	.	.	ENSG00000116337	469	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMPD2_HUMAN	AMPD2	HGNC	E9PIJ1_HUMAN	.	UPI0000125956	SNV	AMPD2,synonymous_variant,p.%3D,ENST00000528454,;AMPD2,synonymous_variant,p.%3D,ENST00000358729,;AMPD2,synonymous_variant,p.%3D,ENST00000256578,;AMPD2,synonymous_variant,p.%3D,ENST00000528667,;AMPD2,synonymous_variant,p.%3D,ENST00000342115,;AMPD2,synonymous_variant,p.%3D,ENST00000369840,;AMPD2,synonymous_variant,p.%3D,ENST00000393688,;AMPD2,downstream_gene_variant,,ENST00000527846,;AMPD2,downstream_gene_variant,,ENST00000474459,;AMPD2,upstream_gene_variant,,ENST00000476688,;AMPD2,downstream_gene_variant,,ENST00000531203,;AMPD2,downstream_gene_variant,,ENST00000531734,;RP5-1160K1.6,non_coding_transcript_exon_variant,,ENST00000369843,;AMPD2,non_coding_transcript_exon_variant,,ENST00000526301,;AMPD2,downstream_gene_variant,,ENST00000459643,;AMPD2,non_coding_transcript_exon_variant,,ENST00000529299,;AMPD2,non_coding_transcript_exon_variant,,ENST00000532851,;AMPD2,downstream_gene_variant,,ENST00000486282,;AMPD2,downstream_gene_variant,,ENST00000534144,;AMPD2,upstream_gene_variant,,ENST00000533132,;AMPD2,upstream_gene_variant,,ENST00000479919,;AMPD2,upstream_gene_variant,,ENST00000467071,;AMPD2,downstream_gene_variant,,ENST00000525415,;AMPD2,downstream_gene_variant,,ENST00000528270,;AMPD2,upstream_gene_variant,,ENST00000528958,;AMPD2,downstream_gene_variant,,ENST00000524975,;	1860	46	33	SUCCESS
CHIA	27159	.	GRCh37	1	111861754	111861754	+	synonymous_variant	Silent	SNP	C	C	T	rs779690824	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	61	230	1	ENST00000343320.6:c.928C>T	p.Leu310=	p.L310=	ENST00000343320		310	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41368.1	928	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CCTTCCTGAAA	NONE	.	.	hmmpanther:PTHR11177:SF37,hmmpanther:PTHR11177,Gene3D:3.10.50.10,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF54556	.	.	ENSP00000358755	.	10/12	.	.	.	.	.	.	.	.	rs779690824	10/12	PASS	ENST00000369740	Transcript	.	.	ENSG00000134216	17432	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHIA_HUMAN	CHIA	HGNC	E9PLJ2_HUMAN	.	UPI00000727DC	SNV	CHIA,synonymous_variant,p.%3D,ENST00000369740,;CHIA,synonymous_variant,p.%3D,ENST00000343320,;CHIA,synonymous_variant,p.%3D,ENST00000489524,;CHIA,synonymous_variant,p.%3D,ENST00000430615,;CHIA,synonymous_variant,p.%3D,ENST00000483391,;CHIA,synonymous_variant,p.%3D,ENST00000353665,;CHIA,synonymous_variant,p.%3D,ENST00000451398,;CHIA,synonymous_variant,p.%3D,ENST00000422815,;RP5-1125M8.2,intron_variant,,ENST00000426321,;CHIA,3_prime_UTR_variant,,ENST00000352594,;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,;RP5-1125M8.3,upstream_gene_variant,,ENST00000422272,;	1031	231	181	SUCCESS
RFX5	5993	.	GRCh37	1	151314816	151314816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	396	29	398	0	ENST00000290524.4:c.1697G>T	p.Ser566Ile	p.S566I	ENST00000290524	NM_000449.3	566	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS994.1	1697	MUTECT|MUSE	.	TGACACTCACT	NONE	.	.	Pfam_domain:PF14621	.	.	ENSP00000290524	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000290524	Transcript	.	.	ENSG00000143390	9986	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RFX5_HUMAN	RFX5	HGNC	Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN	.	UPI0000000E8B	SNV	RFX5,missense_variant,p.Ser566Ile,ENST00000392746,;RFX5,missense_variant,p.Ser526Ile,ENST00000452513,;RFX5,missense_variant,p.Ser566Ile,ENST00000452671,;RFX5,missense_variant,p.Ser566Ile,ENST00000368870,;RFX5,missense_variant,p.Ser566Ile,ENST00000290524,;RFX5,intron_variant,,ENST00000436637,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000450506,;RFX5,downstream_gene_variant,,ENST00000458484,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000436271,;RFX5,downstream_gene_variant,,ENST00000422595,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000469513,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000494217,;	1876	398	426	SUCCESS
RCSD1	92241	.	GRCh37	1	167663459	167663459	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	39	94	0	ENST00000367854.3:c.394T>A	p.Ser132Thr	p.S132T	ENST00000367854	NM_052862.3	132	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1263.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGATCTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2,Pfam_domain:PF15255	.	.	ENSP00000356828	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000367854	Transcript	.	.	ENSG00000198771	28310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	tolerated(0.06)	.	CPZIP_HUMAN	RCSD1	HGNC	.	.	UPI0000204CFA	SNV	RCSD1,missense_variant,p.Ser102Thr,ENST00000537350,;RCSD1,missense_variant,p.Ser132Thr,ENST00000367854,;RCSD1,missense_variant,p.Ser108Thr,ENST00000361496,;	725	94	140	SUCCESS
CCDC181	57821	.	GRCh37	1	169388227	169388227	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	69	191	0	ENST00000367806.3:c.1215+24T>G		p.*405*	ENST00000367806	NM_021179.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1279.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTATTTTT	NONE	.	.	.	.	.	ENSP00000442297	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545005	Transcript	.	.	ENSG00000117477	28051	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC181_HUMAN	CCDC181	HGNC	.	.	UPI000007129B	SNV	CCDC181,intron_variant,,ENST00000367806,;CCDC181,intron_variant,,ENST00000545005,;CCDC181,intron_variant,,ENST00000367805,;CCDC181,downstream_gene_variant,,ENST00000456107,;CCDC181,non_coding_transcript_exon_variant,,ENST00000491570,;	.	191	228	SUCCESS
MYOC	4653	.	GRCh37	1	171621608	171621608	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs74315339	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	73	203	0	ENST00000037502.6:c.144G>T	p.Gln48His	p.Q48H	ENST00000037502	NM_000261.1	48	caG/caT	0	.	A:0	.	A:0	.	A	Q/H	protein_coding	YES	CCDS1297.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GTATACTGGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF11	A:0	.	ENSP00000037502	A:0	1/3	.	.	.	.	.	.	.	.	CM023962,rs74315339	1/3	common_in_exac	ENST00000037502	Transcript	.	A:0.0026	ENSG00000034971	7610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.032)	A:0.0133	tolerated(0.08)	.	MYOC_HUMAN	MYOC	HGNC	B4DV60_HUMAN	.	UPI00000012D6	SNV	MYOC,missense_variant,p.Gln48His,ENST00000037502,;	216	203	208	SUCCESS
ACTL8	81569	.	GRCh37	1	18152300	18152300	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	46	104	0	ENST00000375406.1:c.387G>C	p.Leu129=	p.L129=	ENST00000375406	NM_030812.2	129	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS183.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGGCCGA	NONE	.	.	hmmpanther:PTHR11937:SF169,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000364555	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000375406	Transcript	.	.	ENSG00000117148	24018	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTL8_HUMAN	ACTL8	HGNC	.	.	UPI000007008F	SNV	ACTL8,synonymous_variant,p.%3D,ENST00000375406,;	603	104	101	SUCCESS
ATP2B4	493	.	GRCh37	1	203667458	203667481	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	CGCCCTGCTGGTGAAGAAAATGAA	CGCCCTGCTGGTGAAGAAAATGAA	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	CGCCCTGCTGGTGAAGAAAATGAA	CGCCCTGCTGGTGAAGAAAATGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	200	38	229	0	ENST00000357681.5:c.369_391+1del		p.RPAGEENEdel	ENST00000357681	NM_001684.4	123	CGCCCTGCTGGTGAAGAAAATGAA/-	0	.	.	.	.	.	-	RPAGEENE/-	protein_coding	YES	CCDS1440.1	367-390	INDELOCATOR*|PINDEL	.	TTTTATCGCCCTGCTGGTGAAGAAAATGAACGTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Superfamily_domains:0049473	.	.	ENSP00000350310	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000357681	Transcript	.	.	ENSG00000058668	817	2	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	deletion	ATP2B4,inframe_deletion,,ENST00000341360,;ATP2B4,inframe_deletion,,ENST00000367218,;ATP2B4,inframe_deletion,,ENST00000391954,;ATP2B4,inframe_deletion,,ENST00000367219,;ATP2B4,inframe_deletion,,ENST00000357681,;	1490-1513	229	238	SUCCESS
NLRP3	114548	.	GRCh37	1	247588697	247588697	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	74	219	0	ENST00000336119.3:c.1952C>A	p.Pro651His	p.P651H	ENST00000336119	NM_001127462.2	651	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1632.1	1952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCCAAGA	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.14)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.Pro651His,ENST00000366496,;NLRP3,missense_variant,p.Pro651His,ENST00000336119,;NLRP3,missense_variant,p.Pro651His,ENST00000391827,;NLRP3,missense_variant,p.Pro651His,ENST00000366497,;NLRP3,missense_variant,p.Pro651His,ENST00000391828,;NLRP3,missense_variant,p.Pro651His,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	2698	219	230	SUCCESS
OR2L3	391192	.	GRCh37	1	248224574	248224574	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1026	49	927	0	ENST00000359959.3:c.591A>T	p.Thr197=	p.T197=	ENST00000359959	NM_001004687.1	197	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31104.1	591	MUTECT|MUSE	.	GGCACAGTGTT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000353044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359959	Transcript	.	.	ENSG00000198128	15009	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2L3_HUMAN	OR2L3	HGNC	.	.	UPI0000061EB8	SNV	OR2L3,synonymous_variant,p.%3D,ENST00000359959,;OR2L13,intron_variant,,ENST00000366478,;	591	927	1076	SUCCESS
PRDX1	5052	.	GRCh37	1	45977037	45977037	+	synonymous_variant	Silent	SNP	G	G	A	rs1302821236	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	112	0	ENST00000262746.1:c.564C>T	p.Val188=	p.V188=	ENST00000262746	NM_181696.2	188	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS522.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGACATC	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000239,Pfam_domain:PF10417,Gene3D:3.40.30.10,hmmpanther:PTHR10681:SF75,hmmpanther:PTHR10681	.	.	ENSP00000262746	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262746	Transcript	.	.	ENSG00000117450	9352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDX1_HUMAN	PRDX1	HGNC	.	.	UPI000002FC88	SNV	PRDX1,synonymous_variant,p.%3D,ENST00000319248,;PRDX1,synonymous_variant,p.%3D,ENST00000262746,;PRDX1,synonymous_variant,p.%3D,ENST00000372079,;MMACHC,downstream_gene_variant,,ENST00000401061,;PRDX1,downstream_gene_variant,,ENST00000447184,;PRDX1,downstream_gene_variant,,ENST00000424390,;PRDX1,downstream_gene_variant,,ENST00000483583,;MMACHC,downstream_gene_variant,,ENST00000477188,;	904	112	90	SUCCESS
ERRFI1	54206	.	GRCh37	1	8074176	8074182	+	frameshift_variant	Frame_Shift_Del	DEL	GGCTTCA	GGCTTCA	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	GGCTTCA	GGCTTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	118	0	ENST00000377482.5:c.477_483del	p.Glu160SerfsTer13	p.E160Sfs*13	ENST00000377482	NM_018948.3	159	tcTGAAGCC/tc	0	.	.	.	.	.	-	SEA/X	protein_coding	YES	CCDS94.1	477-483	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGAGGGCTTCAGAGAT	NONE	.	.	hmmpanther:PTHR14254	.	.	ENSP00000366702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377482	Transcript	.	.	ENSG00000116285	18185	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERRFI_HUMAN	ERRFI1	HGNC	I6S2Y9_HUMAN	.	UPI000012F0FC	deletion	ERRFI1,frameshift_variant,p.Glu160SerfsTer13,ENST00000377482,;ERRFI1,3_prime_UTR_variant,,ENST00000469499,;ERRFI1,3_prime_UTR_variant,,ENST00000467067,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,3_prime_UTR_variant,,ENST00000487559,;	701-707	118	38	SUCCESS
LRRC8D	55144	.	GRCh37	1	90399468	90399468	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	70	0	ENST00000337338.5:c.841G>A	p.Gly281Arg	p.G281R	ENST00000337338	NM_001134479.1	281	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS726.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGGAGAG	NONE	.	.	hmmpanther:PTHR23155:SF39,hmmpanther:PTHR23155	.	.	ENSP00000338887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337338	Transcript	.	.	ENSG00000171492	16992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	deleterious(0.04)	.	LRC8D_HUMAN	LRRC8D	HGNC	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN	.	UPI00001BBFBA	SNV	LRRC8D,missense_variant,p.Gly281Arg,ENST00000394593,;LRRC8D,missense_variant,p.Gly281Arg,ENST00000337338,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000414841,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	1248	70	49	SUCCESS
DPYD	1806	.	GRCh37	1	98186246	98186246	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	22	0	ENST00000370192.3:c.483+820G>C		p.*161*	ENST00000370192	NM_000110.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30777.1	.	MUTECT|MUSE	.	CAGATCAGTAA	NONE	.	.	.	.	.	ENSP00000359211	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODIFIER	5/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,3_prime_UTR_variant,,ENST00000306031,;DPYD,intron_variant,,ENST00000423006,;DPYD,intron_variant,,ENST00000370192,;DPYD,intron_variant,,ENST00000474241,;	.	22	14	SUCCESS
LZTS3	9762	.	GRCh37	20	3146846	3146846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	39	120	0	ENST00000329152.3:c.620C>T	p.Thr207Ile	p.T207I	ENST00000329152	NM_014731.2	207	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	.	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGTCATG	NONE	.	.	hmmpanther:PTHR19354:SF6,hmmpanther:PTHR19354	.	.	ENSP00000332123	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.12)	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	SNV	LZTS3,missense_variant,p.Thr207Ile,ENST00000329152,;LZTS3,missense_variant,p.Thr207Ile,ENST00000360342,;LZTS3,missense_variant,p.Thr207Ile,ENST00000337576,;	2018	120	96	SUCCESS
LZTS3	9762	.	GRCh37	20	3147349	3147349	+	splice_donor_variant	Splice_Site	SNP	A	A	G	rs1363430722	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	87	0	ENST00000329152.3:c.459+2T>C		p.X153_splice	ENST00000329152	NM_014731.2	153		0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGACCTGG	NONE	.	.	.	.	.	ENSP00000332123	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	SNV	LZTS3,splice_donor_variant,,ENST00000329152,;LZTS3,splice_donor_variant,,ENST00000360342,;LZTS3,splice_donor_variant,,ENST00000337576,;	.	87	67	SUCCESS
ZNF831	128611	.	GRCh37	20	57829455	57829455	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	148	0	ENST00000371030.2:c.4691A>C	p.Lys1564Thr	p.K1564T	ENST00000371030	NM_178457.2	1564	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS42894.1	4691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAAAACTC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	tolerated(0.08)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Lys1564Thr,ENST00000371030,;	4691	148	116	SUCCESS
DSCAM	1826	.	GRCh37	21	41725559	41725559	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	66	0	ENST00000400454.1:c.767A>G	p.Tyr256Cys	p.Y256C	ENST00000400454	NM_001271534.1	256	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS42929.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGTAATCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	tolerated(0.08)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Tyr8Cys,ENST00000404019,;DSCAM,missense_variant,p.Tyr256Cys,ENST00000400454,;	1245	66	50	SUCCESS
C21orf90	0	.	GRCh37	21	45937720	45937720	+	splice_donor_variant	Splice_Site	SNP	T	T	A	rs183543214	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	40	173	0	ENST00000330490.3:c.42+2T>A		p.X14_splice	ENST00000330490		14		0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTAACTT	NONE	by1000G	.	.	A:0	.	ENSP00000333592	A:0	.	.	.	.	.	.	.	.	.	rs183543214	.	PASS	ENST00000330490	Transcript	.	A:0.0002	ENSG00000182912	16428	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CU090_HUMAN	C21orf90	HGNC	.	.	UPI00001286CB	SNV	C21orf90,splice_donor_variant,,ENST00000354333,;C21orf90,splice_donor_variant,,ENST00000330490,;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000323084,;TSPEAR-AS1,downstream_gene_variant,,ENST00000451035,;TSPEAR-AS1,downstream_gene_variant,,ENST00000430181,;C21orf90,splice_donor_variant,,ENST00000465978,;	.	173	112	SUCCESS
ZNF280B	140883	.	GRCh37	22	22842866	22842866	+	synonymous_variant	Silent	SNP	A	A	G	rs1365026790	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	46	165	0	ENST00000360412.2:c.858T>C	p.Ser286=	p.S286=	ENST00000360412	NM_080764.2	286	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS13799.1	858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCACTAAG	NONE	.	.	hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,synonymous_variant,p.%3D,ENST00000406426,;ZNF280B,synonymous_variant,p.%3D,ENST00000360412,;	1634	165	163	SUCCESS
ISX	91464	.	GRCh37	22	35463259	35463259	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	73	0	ENST00000308700.6:c.179C>T	p.Ala60Val	p.A60V	ENST00000308700	NM_001008494.1	60	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33640.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCTGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF272,hmmpanther:PTHR24329,Gene3D:1.10.10.60	.	.	ENSP00000311492	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000308700	Transcript	.	.	ENSG00000175329	28084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.07)	.	ISX_HUMAN	ISX	HGNC	.	.	UPI00001BE8E5	SNV	ISX,missense_variant,p.Ala60Val,ENST00000308700,;ISX,missense_variant,p.Ala60Val,ENST00000404699,;RP1-272J12.1,intron_variant,,ENST00000448318,;	1131	73	90	SUCCESS
TST	7263	.	GRCh37	22	37414432	37414432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	21	90	0	ENST00000249042.3:c.342G>T	p.Trp114Cys	p.W114C	ENST00000249042	NM_003312.5	114	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS13938.1	342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATCCACCA	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR11364,hmmpanther:PTHR11364:SF6,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821	.	.	ENSP00000385828	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000403892	Transcript	.	.	ENSG00000128311	12388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	THTR_HUMAN	TST	HGNC	B1AH48_HUMAN	.	UPI0000167B82	SNV	TST,missense_variant,p.Trp114Cys,ENST00000438203,;TST,missense_variant,p.Trp114Cys,ENST00000403892,;TST,missense_variant,p.Trp114Cys,ENST00000249042,;MPST,upstream_gene_variant,,ENST00000404393,;MPST,upstream_gene_variant,,ENST00000397129,;MPST,upstream_gene_variant,,ENST00000404802,;MPST,upstream_gene_variant,,ENST00000341116,;MPST,upstream_gene_variant,,ENST00000401419,;MPST,upstream_gene_variant,,ENST00000397225,;MPST,upstream_gene_variant,,ENST00000429360,;MPST,upstream_gene_variant,,ENST00000485587,;	1077	90	90	SUCCESS
BRD1	23774	.	GRCh37	22	50169282	50169282	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	109	0	ENST00000216267.8:c.2950G>C	p.Glu984Gln	p.E984Q	ENST00000216267	NM_014577.1	984	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS14080.1	2950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCATCAG	NONE	.	.	PROSITE_profiles:PS50812,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17,Gene3D:2.30.30.160,Pfam_domain:PF00855,SMART_domains:SM00293,Superfamily_domains:SSF63748	.	.	ENSP00000216267	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000216267	Transcript	.	.	ENSG00000100425	1102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.05)	.	BRD1_HUMAN	BRD1	HGNC	Q659H0_HUMAN	.	UPI0000126ACA	SNV	BRD1,missense_variant,p.Glu672Gln,ENST00000542442,;BRD1,missense_variant,p.Glu710Gln,ENST00000342989,;BRD1,missense_variant,p.Glu984Gln,ENST00000216267,;BRD1,missense_variant,p.Glu984Gln,ENST00000404034,;BRD1,missense_variant,p.Glu1115Gln,ENST00000404760,;BRD1,3_prime_UTR_variant,,ENST00000457780,;BRD1,3_prime_UTR_variant,,ENST00000438393,;BRD1,non_coding_transcript_exon_variant,,ENST00000479985,;	3437	109	94	SUCCESS
SELO	0	.	GRCh37	22	50655118	50655118	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs765965841	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	28	0	ENST00000380903.2:c.1503-2A>G		p.X501_splice	ENST00000380903	NM_031454.1	501		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43034.1	.	RADIA|VARSCANS	.	TCCACAGGCAG	NONE	.	.	.	.	.	ENSP00000370288	.	.	.	.	.	.	.	.	.	.	rs765965841	.	PASS	ENST00000380903	Transcript	.	.	ENSG00000073169	.	.	.	HIGH	6/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	SNV	SELO,splice_acceptor_variant,,ENST00000380903,;TUBGCP6,downstream_gene_variant,,ENST00000439308,;TUBGCP6,downstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000248846,;SELO,splice_acceptor_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000498611,;	.	28	37	SUCCESS
GLI2	2736	.	GRCh37	2	121740293	121740293	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	67	0	ENST00000361492.4:c.1520T>C	p.Phe507Ser	p.F507S	ENST00000361492	NM_005270.4	507	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS33283.1	1520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGTTCGAGG	BUFFER|p.F507F|c.1521C>T|3	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818,PROSITE_profiles:PS50157	.	.	ENSP00000390436	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Phe507Ser,ENST00000452319,;GLI2,missense_variant,p.Phe507Ser,ENST00000361492,;GLI2,missense_variant,p.Phe179Ser,ENST00000314490,;GLI2,splice_region_variant,,ENST00000435313,;GLI2,splice_region_variant,,ENST00000438299,;GLI2,splice_region_variant,,ENST00000341310,;GLI2,splice_region_variant,,ENST00000452692,;GLI2,splice_region_variant,,ENST00000437950,;GLI2,splice_region_variant,,ENST00000445186,;	1580	67	56	SUCCESS
GTDC1	79712	.	GRCh37	2	144903285	144903285	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	95	0	ENST00000344850.4:c.201G>T	p.Val67=	p.V67=	ENST00000344850		67	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33300.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGCACTGA	NONE	.	.	Pfam_domain:PF12038,hmmpanther:PTHR13615:SF1,hmmpanther:PTHR13615	.	.	ENSP00000376608	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000392869	Transcript	.	.	ENSG00000121964	20887	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTDC1_HUMAN	GTDC1	HGNC	G5EA49_HUMAN,G1UFN1_HUMAN,C9JIH3_HUMAN,C9J2C5_HUMAN	.	UPI000022BC3B	SNV	GTDC1,synonymous_variant,p.%3D,ENST00000344850,;GTDC1,synonymous_variant,p.%3D,ENST00000409214,;GTDC1,synonymous_variant,p.%3D,ENST00000437114,;GTDC1,synonymous_variant,p.%3D,ENST00000241391,;GTDC1,synonymous_variant,p.%3D,ENST00000409298,;GTDC1,synonymous_variant,p.%3D,ENST00000392867,;GTDC1,synonymous_variant,p.%3D,ENST00000542155,;GTDC1,synonymous_variant,p.%3D,ENST00000417450,;GTDC1,synonymous_variant,p.%3D,ENST00000392869,;GTDC1,5_prime_UTR_variant,,ENST00000463875,;GTDC1,non_coding_transcript_exon_variant,,ENST00000482601,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,synonymous_variant,p.%3D,ENST00000392871,;GTDC1,3_prime_UTR_variant,,ENST00000415569,;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;	354	95	59	SUCCESS
GAD1	2571	.	GRCh37	2	171715379	171715379	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	54	200	0	ENST00000358196.3:c.1587T>A	p.Pro529=	p.P529=	ENST00000358196	NM_000817.2	529	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2239.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTCAACG	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF57,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	.	.	ENSP00000350928	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000358196	Transcript	.	.	ENSG00000128683	4092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCE1_HUMAN	GAD1	HGNC	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN	.	UPI000002D729	SNV	GAD1,synonymous_variant,p.%3D,ENST00000358196,;GAD1,3_prime_UTR_variant,,ENST00000414527,;GAD1,3_prime_UTR_variant,,ENST00000493875,;GAD1,non_coding_transcript_exon_variant,,ENST00000488724,;GAD1,non_coding_transcript_exon_variant,,ENST00000478562,;	2137	200	138	SUCCESS
TTN	7273	.	GRCh37	2	179434262	179434262	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	85	251	0	ENST00000591111.1:c.71674C>A	p.Pro23892Thr	p.P23892T	ENST00000591111		23892	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59435.1	76597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGGAACAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro16593Thr,ENST00000359218,;TTN,missense_variant,p.Pro23892Thr,ENST00000591111,;TTN,missense_variant,p.Pro25533Thr,ENST00000589042,;TTN,missense_variant,p.Pro16660Thr,ENST00000342175,;TTN,missense_variant,p.Pro22965Thr,ENST00000342992,;TTN,missense_variant,p.Pro16468Thr,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	76822	251	228	SUCCESS
ABCA12	26154	.	GRCh37	2	215815649	215815649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	19	254	1	ENST00000272895.7:c.6806A>G	p.Lys2269Arg	p.K2269R	ENST00000272895	NM_173076.2	2269	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33372.1	6806	MUTECT|MUSE|VARSCANS	.	TAATCTTTTTG	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	.	ENSP00000272895	.	45/53	.	.	.	.	.	.	.	.	.	45/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.42)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Lys1951Arg,ENST00000389661,;ABCA12,missense_variant,p.Lys2269Arg,ENST00000272895,;AC072062.1,intron_variant,,ENST00000607412,;	7026	255	190	SUCCESS
PECR	55825	.	GRCh37	2	216930060	216930060	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	133	0	ENST00000265322.7:c.399G>C	p.Thr133=	p.T133=	ENST00000265322	NM_018441.5	133	acG/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS33375.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACCCGTCAG	NONE	.	.	hmmpanther:PTHR24317,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000265322	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000265322	Transcript	.	.	ENSG00000115425	18281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PECR_HUMAN	PECR	HGNC	.	.	UPI000004C794	SNV	PECR,synonymous_variant,p.%3D,ENST00000265322,;PECR,non_coding_transcript_exon_variant,,ENST00000487318,;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,downstream_gene_variant,,ENST00000464722,;PECR,synonymous_variant,p.%3D,ENST00000442122,;PECR,non_coding_transcript_exon_variant,,ENST00000461330,;PECR,non_coding_transcript_exon_variant,,ENST00000474093,;	474	133	108	SUCCESS
DOCK10	55619	.	GRCh37	2	225721666	225721666	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs778060237	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	53	206	0	ENST00000258390.7:c.1719C>G	p.Asp573Glu	p.D573E	ENST00000258390	NM_014689.2	573	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS46528.1	1719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGTCCAC	NONE	.	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	15/56	.	.	.	.	.	.	.	.	rs778060237	15/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.529)	.	deleterious(0.01)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Asp573Glu,ENST00000258390,;DOCK10,missense_variant,p.Asp567Glu,ENST00000409592,;DOCK10,downstream_gene_variant,,ENST00000492369,;	1787	206	139	SUCCESS
COL4A4	1286	.	GRCh37	2	227892673	227892673	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	60	0	ENST00000396625.3:c.4026T>A	p.Pro1342=	p.P1342=	ENST00000396625	NM_000092.4	1342	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42828.1	4026	MUTECT|MUSE	.	TCTCCAGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000379866	.	42/48	.	.	.	.	.	.	.	.	.	42/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,synonymous_variant,p.%3D,ENST00000329662,;COL4A4,synonymous_variant,p.%3D,ENST00000396625,;	4234	60	58	SUCCESS
SEPT2	0	.	GRCh37	2	242289532	242289532	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	53	343	1	ENST00000391973.2:c.1029G>A	p.Met343Ile	p.M343I	ENST00000391973	NM_006155.1	343	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2548.1	1029	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATGCAGAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF67,PIRSF_domain:PIRSF006698	.	.	ENSP00000375834	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000391973	Transcript	.	.	ENSG00000168385	7729	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.04)	.	SEPT2_HUMAN	SEPT2	HGNC	C9JZI2_HUMAN,C9JT15_HUMAN,C9JSE7_HUMAN,C9JG93_HUMAN,C9JFT1_HUMAN,C9JB25_HUMAN,C9J938_HUMAN,C9J2Q4_HUMAN,C9IZU3_HUMAN,C9IY94_HUMAN,B5MCX3_HUMAN	.	UPI000013585A	SNV	SEPT2,missense_variant,p.Met343Ile,ENST00000391973,;SEPT2,missense_variant,p.Met343Ile,ENST00000360051,;SEPT2,missense_variant,p.Met303Ile,ENST00000407971,;SEPT2,missense_variant,p.Met343Ile,ENST00000391971,;SEPT2,missense_variant,p.Met353Ile,ENST00000401990,;SEPT2,missense_variant,p.Met343Ile,ENST00000402092,;SEPT2,missense_variant,p.Met11Ile,ENST00000451310,;SEPT2,missense_variant,p.Met170Ile,ENST00000421717,;AC005104.3,downstream_gene_variant,,ENST00000414896,;SEPT2,downstream_gene_variant,,ENST00000481500,;	1557	344	257	SUCCESS
NLRC4	58484	.	GRCh37	2	32475575	32475575	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200929188	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	51	168	0	ENST00000360906.5:c.1358G>A	p.Arg453Gln	p.R453Q	ENST00000360906	NM_001199139.1	453	cGa/cAa	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS33174.1	1358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCGTCCT	SITE|p.R453Q|c.1358G>A|3,BUFFER|p.R453*|c.1357C>T|6	byCluster|by1000G	.	hmmpanther:PTHR10044:SF97,hmmpanther:PTHR10044	T:0	.	ENSP00000385090	T:0	5/10	.	.	.	.	.	.	.	.	rs200929188,COSM230479	5/10	PASS	ENST00000404025	Transcript	.	T:0.0002	ENSG00000091106	16412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.97)	T:0	deleterious(0.02)	0,1	NLRC4_HUMAN	NLRC4	HGNC	.	.	UPI0000126FAD	SNV	NLRC4,missense_variant,p.Arg453Gln,ENST00000402280,;NLRC4,missense_variant,p.Arg453Gln,ENST00000360906,;NLRC4,missense_variant,p.Arg453Gln,ENST00000404025,;NLRC4,intron_variant,,ENST00000342905,;	1847	168	145	SUCCESS
ABCG8	64241	.	GRCh37	2	44073332	44073332	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	142	0	ENST00000272286.2:c.204G>T	p.Leu68=	p.L68=	ENST00000272286	NM_022437.2	68	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1815.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGGCTCA	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19241	.	.	ENSP00000272286	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000272286	Transcript	.	.	ENSG00000143921	13887	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCG8_HUMAN	ABCG8	HGNC	Q96A01_HUMAN	.	UPI000004C4CD	SNV	ABCG8,synonymous_variant,p.%3D,ENST00000272286,;	294	142	104	SUCCESS
C2orf74	339804	.	GRCh37	2	61389694	61389694	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	206	169	385	0	ENST00000432605.1:c.66A>G	p.Leu22=	p.L22=	ENST00000432605	NM_001143959.1	22	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	.	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTAATTTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000402915	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000432605	Transcript	.	.	ENSG00000237651	34439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB074_HUMAN	C2orf74	HGNC	C9JBF1_HUMAN	.	UPI00018E24F1	SNV	C2orf74,synonymous_variant,p.%3D,ENST00000432605,;C2orf74,intron_variant,,ENST00000426997,;RP11-493E12.1,upstream_gene_variant,,ENST00000605902,;RP11-493E12.1,upstream_gene_variant,,ENST00000607743,;RP11-493E12.1,upstream_gene_variant,,ENST00000606876,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000488469,;KIAA1841,intron_variant,,ENST00000464909,;KIAA1841,intron_variant,,ENST00000462959,;KIAA1841,upstream_gene_variant,,ENST00000489686,;KIAA1841,intron_variant,,ENST00000398622,;	66	385	375	SUCCESS
HTRA2	27429	.	GRCh37	2	74757336	74757336	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	66	0	ENST00000258080.3:c.203C>G	p.Pro68Arg	p.P68R	ENST00000258080	NM_013247.4	68	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS1951.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACCCCGAG	NONE	.	.	hmmpanther:PTHR22939:SF69,hmmpanther:PTHR22939	.	.	ENSP00000258080	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000258080	Transcript	.	.	ENSG00000115317	14348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious_low_confidence(0.02)	.	HTRA2_HUMAN	HTRA2	HGNC	.	.	UPI000012CB84	SNV	HTRA2,missense_variant,p.Pro68Arg,ENST00000352222,;HTRA2,missense_variant,p.Pro68Arg,ENST00000258080,;HTRA2,missense_variant,p.Pro55Arg,ENST00000437202,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;LOXL3,downstream_gene_variant,,ENST00000409986,;LOXL3,downstream_gene_variant,,ENST00000264094,;LOXL3,downstream_gene_variant,,ENST00000409249,;AUP1,upstream_gene_variant,,ENST00000377526,;LOXL3,downstream_gene_variant,,ENST00000409549,;DQX1,upstream_gene_variant,,ENST00000451518,;LOXL3,downstream_gene_variant,,ENST00000393937,;HTRA2,intron_variant,,ENST00000462909,;HTRA2,intron_variant,,ENST00000484881,;HTRA2,intron_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000486234,;HTRA2,upstream_gene_variant,,ENST00000465521,;DQX1,upstream_gene_variant,,ENST00000473508,;LOXL3,downstream_gene_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000462297,;HTRA2,upstream_gene_variant,,ENST00000482205,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000464887,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000472800,;	833	66	68	SUCCESS
PLXNA1	5361	.	GRCh37	3	126708420	126708420	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	79	0	ENST00000393409.2:c.984G>A	p.Leu328=	p.L328=	ENST00000393409	NM_032242.3	328	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33847.2	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGGGCCT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000377061	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,synonymous_variant,p.%3D,ENST00000393409,;PLXNA1,synonymous_variant,p.%3D,ENST00000251772,;	984	79	58	SUCCESS
TMEM108	66000	.	GRCh37	3	133099005	133099005	+	synonymous_variant	Silent	SNP	C	C	T	rs368132206	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	39	0	ENST00000321871.6:c.450C>T	p.Thr150=	p.T150=	ENST00000321871	NM_001136469.1	150	acC/acT	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS33858.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCAGCCG	NONE	byCluster	.	Low_complexity_(Seg):seg	.	T:0.0001	ENSP00000324651	.	4/6	.	.	.	.	.	.	.	.	rs368132206	4/6	PASS	ENST00000321871	Transcript	.	.	ENSG00000144868	28451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM108_HUMAN	TMEM108	HGNC	D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN	.	UPI000004EE8B	SNV	TMEM108,synonymous_variant,p.%3D,ENST00000393130,;TMEM108,synonymous_variant,p.%3D,ENST00000510183,;TMEM108,synonymous_variant,p.%3D,ENST00000515826,;TMEM108,synonymous_variant,p.%3D,ENST00000321871,;TMEM108,synonymous_variant,p.%3D,ENST00000512662,;TMEM108,intron_variant,,ENST00000508711,;TMEM108,downstream_gene_variant,,ENST00000511555,;TMEM108,downstream_gene_variant,,ENST00000514894,;TMEM108,downstream_gene_variant,,ENST00000512137,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,;	660	39	45	SUCCESS
CLSTN2	64084	.	GRCh37	3	140178531	140178531	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778316944	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	72	0	ENST00000458420.3:c.1142T>C	p.Ile381Thr	p.I381T	ENST00000458420	NM_022131.2	381	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3112.1	1142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATCACCA	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Pfam_domain:PF13385,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000402460	.	7/17	.	.	.	.	.	.	.	.	rs778316944	7/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious(0)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Ile381Thr,ENST00000458420,;RP11-68L1.2,intron_variant,,ENST00000503357,;RP11-68L1.1,downstream_gene_variant,,ENST00000483759,;RP11-68L1.2,upstream_gene_variant,,ENST00000502712,;RP11-68L1.2,upstream_gene_variant,,ENST00000509191,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	1332	72	77	SUCCESS
ECE2	9718	.	GRCh37	3	183976322	183976322	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	98	0	ENST00000402825.3:c.480+778G>T		p.*160*	ENST00000402825	NM_014693.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3256.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGACTCA	NONE	.	.	.	.	.	ENSP00000384223	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	.	.	MODIFIER	2/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	SNV	ECE2,missense_variant,p.Asp243Tyr,ENST00000324557,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,intron_variant,,ENST00000402825,;CAMK2N2,downstream_gene_variant,,ENST00000296238,;	.	98	86	SUCCESS
PLXNB1	5364	.	GRCh37	3	48465123	48465123	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	39	0	ENST00000296440.6:c.898del	p.Ala300LeufsTer106	p.A300Lfs*106	ENST00000296440	NM_001130082.1	300	Gct/ct	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS2765.1	898	INDELOCATOR|VARSCANI	.	GTGCAGCCGAGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000351338	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	deletion	PLXNB1,frameshift_variant,p.Ala300LeufsTer106,ENST00000358536,;PLXNB1,frameshift_variant,p.Ala300LeufsTer106,ENST00000296440,;PLXNB1,frameshift_variant,p.Ala300LeufsTer106,ENST00000456774,;PLXNB1,frameshift_variant,p.Ala300LeufsTer106,ENST00000358459,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000473683,;PLXNB1,frameshift_variant,p.Ala300LeufsTer106,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	1168	39	25	SUCCESS
PLXNB1	5364	.	GRCh37	3	48465124	48465124	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	42	0	ENST00000296440.6:c.897G>T	p.Ser299=	p.S299=	ENST00000296440	NM_001130082.1	299	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2765.1	897	SOMATICSNIPER|VARSCANS	.	GCAGCCGAGGA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000351338	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,synonymous_variant,p.%3D,ENST00000358536,;PLXNB1,synonymous_variant,p.%3D,ENST00000296440,;PLXNB1,synonymous_variant,p.%3D,ENST00000456774,;PLXNB1,synonymous_variant,p.%3D,ENST00000358459,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000473683,;PLXNB1,synonymous_variant,p.%3D,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	1167	42	26	SUCCESS
PLXNB1	5364	.	GRCh37	3	48465125	48465125	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs542965215	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	42	0	ENST00000296440.6:c.896C>T	p.Ser299Leu	p.S299L	ENST00000296440	NM_001130082.1	299	tCg/tTg	0	.	A:0	.	A:0	.	A	S/L	protein_coding	YES	CCDS2765.1	896	SOMATICSNIPER|VARSCANS	.	CAGCCGAGGAG	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	A:0	.	ENSP00000351338	A:0	3/38	.	.	.	.	.	.	.	.	rs542965215	3/38	PASS	ENST00000358536	Transcript	.	A:0.0004	ENSG00000164050	9103	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.939)	A:0.002	deleterious(0.04)	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,missense_variant,p.Ser299Leu,ENST00000358536,;PLXNB1,missense_variant,p.Ser299Leu,ENST00000296440,;PLXNB1,missense_variant,p.Ser299Leu,ENST00000456774,;PLXNB1,missense_variant,p.Ser299Leu,ENST00000358459,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Ser299Leu,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	1166	42	27	SUCCESS
IP6K2	51447	.	GRCh37	3	48731544	48731544	+	intron_variant	Intron	DEL	C	C	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	74	0	ENST00000328631.5:c.203-932del		p.*68*	ENST00000328631	NM_016291.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2777.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGTGGCCCCCA	NONE	.	.	.	.	.	ENSP00000331103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328631	Transcript	.	.	ENSG00000068745	17313	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IP6K2_HUMAN	IP6K2	HGNC	C9JU99_HUMAN,C9JMC9_HUMAN,C9JLG7_HUMAN,C9JK62_HUMAN,C9JHX0_HUMAN,C9JGK2_HUMAN,B2RCP4_HUMAN	.	UPI00000732B2	deletion	IP6K2,3_prime_UTR_variant,,ENST00000413298,;IP6K2,3_prime_UTR_variant,,ENST00000431721,;IP6K2,3_prime_UTR_variant,,ENST00000449610,;IP6K2,3_prime_UTR_variant,,ENST00000340879,;IP6K2,3_prime_UTR_variant,,ENST00000450045,;IP6K2,3_prime_UTR_variant,,ENST00000446860,;IP6K2,3_prime_UTR_variant,,ENST00000432678,;IP6K2,intron_variant,,ENST00000449563,;IP6K2,intron_variant,,ENST00000412850,;IP6K2,intron_variant,,ENST00000413654,;IP6K2,intron_variant,,ENST00000437427,;IP6K2,intron_variant,,ENST00000454335,;IP6K2,intron_variant,,ENST00000443853,;IP6K2,intron_variant,,ENST00000328631,;IP6K2,downstream_gene_variant,,ENST00000453202,;IP6K2,downstream_gene_variant,,ENST00000434860,;IP6K2,downstream_gene_variant,,ENST00000424035,;IP6K2,downstream_gene_variant,,ENST00000455545,;IP6K2,downstream_gene_variant,,ENST00000417896,;IP6K2,downstream_gene_variant,,ENST00000440424,;IP6K2,downstream_gene_variant,,ENST00000443964,;IP6K2,downstream_gene_variant,,ENST00000436134,;IP6K2,3_prime_UTR_variant,,ENST00000416707,;IP6K2,3_prime_UTR_variant,,ENST00000433104,;IP6K2,intron_variant,,ENST00000479914,;IP6K2,downstream_gene_variant,,ENST00000412795,;IP6K2,upstream_gene_variant,,ENST00000491686,;	.	74	88	SUCCESS
RNF123	63891	.	GRCh37	3	49738946	49738946	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751933046	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	45	116	0	ENST00000327697.6:c.1300G>T	p.Val434Phe	p.V434F	ENST00000327697	NM_022064.3	434	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33758.1	1300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCGTCTTC	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	16/39	.	.	.	.	.	.	.	.	rs751933046,COSM190662	16/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.396)	.	tolerated(0.68)	0,1	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,missense_variant,p.Val434Phe,ENST00000327697,;RNF123,missense_variant,p.Val288Phe,ENST00000432042,;RNF123,downstream_gene_variant,,ENST00000454491,;RNF123,missense_variant,p.Val434Phe,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000494005,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000443204,;	1444	116	93	SUCCESS
DNAH1	25981	.	GRCh37	3	52394057	52394057	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	81	0	ENST00000420323.2:c.4534del	p.Val1512SerfsTer3	p.V1512Sfs*3	ENST00000420323	NM_015512.4	1511	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS46842.1	4533	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACGTGGTCAG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	27/78	.	.	.	.	.	.	.	.	.	27/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	deletion	DNAH1,frameshift_variant,p.Val1512SerfsTer3,ENST00000420323,;DNAH1,upstream_gene_variant,,ENST00000466628,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;	4794	81	91	SUCCESS
SGMS2	166929	.	GRCh37	4	108816607	108816607	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	47	0	ENST00000359079.4:c.-103A>G		p.*35*	ENST00000359079	NM_001136257.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3677.1	.	MUTECT|MUSE	.	TTGTAAGAGTC	NONE	.	.	.	.	.	ENSP00000378176	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000394684	Transcript	.	.	ENSG00000164023	28395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMS2_HUMAN	SGMS2	HGNC	E5RJU3_HUMAN,E5RJ63_HUMAN,E5RGG5_HUMAN	.	UPI000000D9A6	SNV	SGMS2,5_prime_UTR_variant,,ENST00000394684,;SGMS2,5_prime_UTR_variant,,ENST00000506993,;SGMS2,5_prime_UTR_variant,,ENST00000394686,;SGMS2,5_prime_UTR_variant,,ENST00000503385,;SGMS2,5_prime_UTR_variant,,ENST00000359079,;SGMS2,intron_variant,,ENST00000503862,;RP11-286E11.1,intron_variant,,ENST00000513071,;RP11-286E11.1,intron_variant,,ENST00000499098,;SGMS2,non_coding_transcript_exon_variant,,ENST00000506462,;SGMS2,downstream_gene_variant,,ENST00000515332,;	455	47	27	SUCCESS
DCHS2	54798	.	GRCh37	4	155156800	155156800	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	176	0	ENST00000357232.4:c.7639T>G	p.Phe2547Val	p.F2547V	ENST00000357232	NM_017639.3	2547	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS3785.1	7639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	COSM1428018	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.01)	.	tolerated(0.11)	1	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Phe2547Val,ENST00000357232,;	7639	176	139	SUCCESS
SPOCK3	50859	.	GRCh37	4	168155405	168155405	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	23	0	ENST00000357154.3:c.1-81T>A		p.*1*	ENST00000357154	NM_016950.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54817.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAAACATG	NONE	.	.	.	.	.	ENSP00000349677	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,5_prime_UTR_variant,,ENST00000512042,;SPOCK3,5_prime_UTR_variant,,ENST00000511269,;SPOCK3,5_prime_UTR_variant,,ENST00000506697,;SPOCK3,intron_variant,,ENST00000512648,;SPOCK3,intron_variant,,ENST00000357154,;SPOCK3,intron_variant,,ENST00000511531,;SPOCK3,intron_variant,,ENST00000357545,;SPOCK3,intron_variant,,ENST00000506886,;SPOCK3,intron_variant,,ENST00000510403,;SPOCK3,intron_variant,,ENST00000421836,;SPOCK3,intron_variant,,ENST00000510741,;SPOCK3,intron_variant,,ENST00000509854,;SPOCK3,intron_variant,,ENST00000541354,;SPOCK3,intron_variant,,ENST00000512681,;SPOCK3,intron_variant,,ENST00000502330,;SPOCK3,intron_variant,,ENST00000504953,;SPOCK3,upstream_gene_variant,,ENST00000535728,;SPOCK3,upstream_gene_variant,,ENST00000541637,;SPOCK3,upstream_gene_variant,,ENST00000534949,;SPOCK3,intron_variant,,ENST00000507086,;SPOCK3,intron_variant,,ENST00000502821,;SPOCK3,intron_variant,,ENST00000511905,;SPOCK3,intron_variant,,ENST00000505187,;SPOCK3,intron_variant,,ENST00000515316,;SPOCK3,intron_variant,,ENST00000502741,;SPOCK3,intron_variant,,ENST00000507370,;SPOCK3,intron_variant,,ENST00000511226,;SPOCK3,upstream_gene_variant,,ENST00000515143,;	.	23	14	SUCCESS
TRIML2	205860	.	GRCh37	4	189026083	189026083	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	39	201	0	ENST00000512729.1:c.43T>C	p.Leu15=	p.L15=	ENST00000512729	NM_173553.1	15	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3850.1	43	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAACTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103	.	.	ENSP00000422581	.	2/7	.	.	.	.	.	.	.	.	COSM39420	2/7	PASS	ENST00000512729	Transcript	.	.	ENSG00000179046	26378	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TRIMM_HUMAN	TRIML2	HGNC	.	.	UPI000007300A	SNV	TRIML2,synonymous_variant,p.%3D,ENST00000326754,;TRIML2,synonymous_variant,p.%3D,ENST00000536972,;TRIML2,synonymous_variant,p.%3D,ENST00000512729,;TRIML2,downstream_gene_variant,,ENST00000394461,;TRIML2,downstream_gene_variant,,ENST00000502707,;TRIML2,non_coding_transcript_exon_variant,,ENST00000511771,;TRIML2,upstream_gene_variant,,ENST00000503475,;TRIML2,upstream_gene_variant,,ENST00000503141,;RP11-713C19.1,upstream_gene_variant,,ENST00000464002,;	418	201	146	SUCCESS
PCDH7	5099	.	GRCh37	4	30723824	30723824	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	13	0	ENST00000361762.2:c.780G>T	p.Leu260=	p.L260=	ENST00000361762	NM_002589.2	260	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54753.1	780	RADIA|MUTECT|MUSE	.	CAGCTGATCGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,synonymous_variant,p.%3D,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000511884,;PCDH7,upstream_gene_variant,,ENST00000507864,;	780	13	10	SUCCESS
HTT	3064	.	GRCh37	4	3209019	3209019	+	frameshift_variant	Frame_Shift_Ins	INS	C	C	AG	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	87	0	ENST00000355072.5:c.6087delinsAG	p.Gln2030AlafsTer43	p.Q2030Afs*43	ENST00000355072	NM_002111.6	2029	gcC/gcAG	0	.	.	.	.	.	AG	A/AX	protein_coding	YES	CCDS43206.1	6087	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CATGGCCCAGTT	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	45/67	.	.	.	.	.	.	.	.	.	45/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	substitution	HTT,frameshift_variant,p.Gln2030AlafsTer43,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000502820,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000509751,;	6232	87	78	SUCCESS
KIT	3815	.	GRCh37	4	55598063	55598063	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1553892672	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	48	165	0	ENST00000288135.5:c.2260C>T	p.Pro754Ser	p.P754S	ENST00000288135	NM_000222.2	754	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS3496.1	2260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTCCCGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112	.	.	ENSP00000288135	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Pro750Ser,ENST00000412167,;KIT,missense_variant,p.Pro754Ser,ENST00000288135,;KIT,non_coding_transcript_exon_variant,,ENST00000512959,;	2357	165	131	SUCCESS
HSD17B11	51170	.	GRCh37	4	88293884	88293884	+	synonymous_variant	Silent	SNP	C	C	A	rs114331860	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	46	149	0	ENST00000358290.4:c.534G>T	p.Ser178=	p.S178=	ENST00000358290	NM_016245.3	178	tcG/tcT	0	T:0.0159	T:0.0189	.	T:0	.	A	S	protein_coding	YES	CCDS3619.1	534	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCGAGAC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24316:SF271,hmmpanther:PTHR24316	T:0	T:0.0001	ENSP00000351035	T:0	4/7	.	.	.	.	.	.	.	.	rs114331860	4/7	PASS	ENST00000358290	Transcript	.	T:0.0050	ENSG00000198189	22960	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	DHB11_HUMAN	HSD17B11	HGNC	.	.	UPI000013FB48	SNV	HSD17B11,synonymous_variant,p.%3D,ENST00000507286,;HSD17B11,synonymous_variant,p.%3D,ENST00000358290,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000507518,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000502576,;HSD17B11,downstream_gene_variant,,ENST00000508413,;	850	149	102	SUCCESS
FER	2241	.	GRCh37	5	108203627	108203627	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770017609	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	114	218	0	ENST00000281092.4:c.641T>C	p.Met214Thr	p.M214T	ENST00000281092	NM_005246.2	214	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS4098.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATGCAAG	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF227,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF103657	.	.	ENSP00000281092	.	6/20	.	.	.	.	.	.	.	.	rs770017609	6/20	PASS	ENST00000281092	Transcript	.	.	ENSG00000151422	3655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	FER_HUMAN	FER	HGNC	.	.	UPI000013DC55	SNV	FER,missense_variant,p.Met39Thr,ENST00000438717,;FER,missense_variant,p.Met214Thr,ENST00000281092,;FER,missense_variant,p.Met214Thr,ENST00000536402,;FER,3_prime_UTR_variant,,ENST00000504143,;	1025	218	214	SUCCESS
PCDHA1	56147	.	GRCh37	5	140167846	140167846	+	synonymous_variant	Silent	SNP	G	G	A	rs376407441	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	94	150	0	ENST00000504120.2:c.1971G>A	p.Pro657=	p.P657=	ENST00000504120	NM_018900.2	657	ccG/ccA	0	A:0.0002	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS54913.1	1971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGGCGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	A:0	A:0	ENSP00000420840	A:0	1/4	.	.	.	.	.	.	.	.	rs376407441	1/4	PASS	ENST00000504120	Transcript	.	A:0.0002	ENSG00000204970	8663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	SNV	PCDHA1,synonymous_variant,p.%3D,ENST00000504120,;PCDHA1,synonymous_variant,p.%3D,ENST00000378133,;PCDHA1,intron_variant,,ENST00000394633,;	1971	150	150	SUCCESS
PCDHA6	56142	.	GRCh37	5	140209428	140209428	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	302	17	257	0	ENST00000529310.1:c.1752A>T	p.Ser584=	p.S584=	ENST00000529310	NM_018909.2	584	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47281.1	1752	MUTECT|MUSE	.	CGGTCACTGGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,synonymous_variant,p.%3D,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	1866	257	319	SUCCESS
HK3	3101	.	GRCh37	5	176308382	176308382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	31	98	0	ENST00000292432.5:c.2548A>G	p.Lys850Glu	p.K850E	ENST00000292432	NM_002115.2	850	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4407.1	2548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTTCTCCA	NONE	.	.	hmmpanther:PTHR19443:SF1,hmmpanther:PTHR19443,Pfam_domain:PF03727,Gene3D:3.40.367.20,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,missense_variant,p.Lys850Glu,ENST00000292432,;UNC5A,downstream_gene_variant,,ENST00000329542,;UNC5A,downstream_gene_variant,,ENST00000261961,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,non_coding_transcript_exon_variant,,ENST00000514666,;	2640	98	123	SUCCESS
MAP1B	4131	.	GRCh37	5	71491564	71491564	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	54	0	ENST00000296755.7:c.2382T>A	p.Ala794=	p.A794=	ENST00000296755	NM_005909.3	794	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4012.1	2382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGTCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,synonymous_variant,p.%3D,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	2680	54	65	SUCCESS
MAP1B	4131	.	GRCh37	5	71494133	71494133	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765111292	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	34	125	0	ENST00000296755.7:c.4951C>A	p.Gln1651Lys	p.Q1651K	ENST00000296755	NM_005909.3	1651	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS4012.1	4951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCAAGAA	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	rs765111292	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.527)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Gln1651Lys,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	5249	125	131	SUCCESS
UTP15	84135	.	GRCh37	5	72866457	72866457	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756183082	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	57	192	0	ENST00000296792.4:c.594G>T	p.Glu198Asp	p.E198D	ENST00000296792	NM_032175.2	198	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS34186.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAGAGTGT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19924,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000296792	.	6/13	.	.	.	.	.	.	.	.	rs756183082	6/13	PASS	ENST00000296792	Transcript	.	.	ENSG00000164338	25758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.43)	.	UTP15_HUMAN	UTP15	HGNC	D6RF65_HUMAN,B4DU75_HUMAN	.	UPI000020CADC	SNV	UTP15,missense_variant,p.Glu225Asp,ENST00000509005,;UTP15,missense_variant,p.Glu179Asp,ENST00000508491,;UTP15,missense_variant,p.Glu8Asp,ENST00000543251,;UTP15,missense_variant,p.Glu198Asp,ENST00000296792,;ANKRA2,upstream_gene_variant,,ENST00000296785,;UTP15,downstream_gene_variant,,ENST00000513824,;UTP15,downstream_gene_variant,,ENST00000508686,;UTP15,upstream_gene_variant,,ENST00000512550,;ANKRA2,upstream_gene_variant,,ENST00000515804,;UTP15,downstream_gene_variant,,ENST00000510478,;	849	192	206	SUCCESS
CKMT2	1160	.	GRCh37	5	80548514	80548514	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs749247055	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	31	35	0	ENST00000254035.4:c.153C>A	p.Ser51Arg	p.S51R	ENST00000254035		51	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS4053.1	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCGCAGA	NONE	byFrequency	.	PROSITE_profiles:PS51509,hmmpanther:PTHR11547:SF19,hmmpanther:PTHR11547,Gene3D:1.10.135.10,Superfamily_domains:SSF48034	.	.	ENSP00000404203	.	4/11	.	.	.	.	.	.	.	.	rs749247055,COSM1070737	4/11	PASS	ENST00000424301	Transcript	.	.	ENSG00000131730	1996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.774)	.	tolerated(0.12)	0,1	KCRS_HUMAN	CKMT2	HGNC	D6R998_HUMAN,B3KVA7_HUMAN	.	UPI000013CE0D	SNV	CKMT2,missense_variant,p.Ser51Arg,ENST00000254035,;CKMT2,missense_variant,p.Ser51Arg,ENST00000437669,;CKMT2,missense_variant,p.Ser51Arg,ENST00000424301,;CKMT2,missense_variant,p.Ser51Arg,ENST00000505060,;CKMT2,missense_variant,p.Ser51Arg,ENST00000511719,;CKMT2-AS1,intron_variant,,ENST00000501927,;CKMT2-AS1,intron_variant,,ENST00000500148,;CKMT2-AS1,intron_variant,,ENST00000512287,;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2-AS1,intron_variant,,ENST00000503483,;CKMT2-AS1,intron_variant,,ENST00000502041,;CKMT2-AS1,intron_variant,,ENST00000505295,;CKMT2,splice_region_variant,,ENST00000515615,;CKMT2,splice_region_variant,,ENST00000513094,;CKMT2,downstream_gene_variant,,ENST00000505704,;CKMT2,splice_region_variant,,ENST00000515238,;CKMT2,upstream_gene_variant,,ENST00000514086,;CKMT2,upstream_gene_variant,,ENST00000505135,;CKMT2,upstream_gene_variant,,ENST00000505850,;	391	35	43	SUCCESS
RGMB	285704	.	GRCh37	5	98115463	98115463	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	45	88	0	ENST00000513185.1:c.316C>G	p.His106Asp	p.H106D	ENST00000513185		106	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS47251.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACCATTCT	NONE	.	.	hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF5,Pfam_domain:PF06535	.	.	ENSP00000308219	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000308234	Transcript	.	.	ENSG00000174136	26896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	RGMB	HGNC	J3KNF6_HUMAN	.	UPI00005926DF	SNV	RGMB,missense_variant,p.His147Asp,ENST00000308234,;RGMB,missense_variant,p.His106Asp,ENST00000513185,;RGMB,non_coding_transcript_exon_variant,,ENST00000504776,;RGMB,upstream_gene_variant,,ENST00000508978,;RGMB,non_coding_transcript_exon_variant,,ENST00000434027,;	841	88	78	SUCCESS
RGMB	285704	.	GRCh37	5	98129453	98129453	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	124	186	0	ENST00000513185.1:c.1310T>A	p.Leu437Ter	p.L437*	ENST00000513185		437	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS47251.1	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTTGTAGG	NONE	.	.	hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF5	.	.	ENSP00000308219	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000308234	Transcript	.	.	ENSG00000174136	26896	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RGMB	HGNC	J3KNF6_HUMAN	.	UPI00005926DF	SNV	RGMB,stop_gained,p.Leu478Ter,ENST00000308234,;RGMB,stop_gained,p.Leu437Ter,ENST00000513185,;RGMB,intron_variant,,ENST00000508978,;	1835	186	225	SUCCESS
GRIK2	2898	.	GRCh37	6	102516324	102516324	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	147	0	ENST00000421544.1:c.2665G>A	p.Glu889Lys	p.E889K	ENST00000421544	NM_021956.4	889	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5048.1	2665	MUTECT|MUSE|VARSCANS	.	CAGAAGAAGTT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38	.	.	ENSP00000397026	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.103)	.	tolerated_low_confidence(0.05)	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,missense_variant,p.Glu889Lys,ENST00000421544,;GRIK2,missense_variant,p.Glu840Lys,ENST00000369134,;GRIK2,missense_variant,p.Glu813Lys,ENST00000369137,;GRIK2,3_prime_UTR_variant,,ENST00000369138,;GRIK2,3_prime_UTR_variant,,ENST00000413795,;GRIK2,downstream_gene_variant,,ENST00000318991,;	3155	147	140	SUCCESS
IL20RA	53832	.	GRCh37	6	137323493	137323493	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	56	0	ENST00000316649.5:c.865-1G>C		p.X289_splice	ENST00000316649	NM_014432.3	289		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5181.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTATAA	NONE	.	.	.	.	.	ENSP00000314976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316649	Transcript	.	.	ENSG00000016402	6003	.	.	HIGH	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	I20RA_HUMAN	IL20RA	HGNC	F5H675_HUMAN	.	UPI000006FA41	SNV	IL20RA,splice_acceptor_variant,,ENST00000367748,;IL20RA,splice_acceptor_variant,,ENST00000541547,;IL20RA,splice_acceptor_variant,,ENST00000316649,;RP11-204P2.3,downstream_gene_variant,,ENST00000458017,;IL20RA,downstream_gene_variant,,ENST00000468393,;	.	56	43	SUCCESS
HEBP2	23593	.	GRCh37	6	138734131	138734131	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	32	163	0	ENST00000607197.1:c.534C>T	p.Gly178=	p.G178=	ENST00000607197	NM_014320.2	178	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5191.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCTACAA	NONE	.	.	Superfamily_domains:SSF55136,Pfam_domain:PF04832,hmmpanther:PTHR11220,hmmpanther:PTHR11220:SF3	.	.	ENSP00000475750	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000607197	Transcript	.	.	ENSG00000051620	15716	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEBP2_HUMAN	HEBP2	HGNC	Q05DB4_HUMAN	.	UPI0000038D5D	SNV	HEBP2,synonymous_variant,p.%3D,ENST00000607197,;HEBP2,3_prime_UTR_variant,,ENST00000367697,;HEBP2,3_prime_UTR_variant,,ENST00000448741,;HEBP2,3_prime_UTR_variant,,ENST00000453452,;	811	163	126	SUCCESS
ACAT2	39	.	GRCh37	6	160196246	160196246	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	67	64	0	ENST00000367048.4:c.535G>C	p.Asp179His	p.D179H	ENST00000367048	NM_005891.2	179	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS5268.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGACAAG	NONE	.	.	hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000356015	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,missense_variant,p.Asp208His,ENST00000541436,;ACAT2,missense_variant,p.Asp179His,ENST00000367048,;TCP1,downstream_gene_variant,,ENST00000392168,;TCP1,downstream_gene_variant,,ENST00000321394,;TCP1,downstream_gene_variant,,ENST00000539756,;TCP1,downstream_gene_variant,,ENST00000544255,;TCP1,downstream_gene_variant,,ENST00000420894,;ACAT2,non_coding_transcript_exon_variant,,ENST00000467951,;ACAT2,upstream_gene_variant,,ENST00000472052,;TCP1,downstream_gene_variant,,ENST00000546204,;	2295	64	110	SUCCESS
RNASET2	8635	.	GRCh37	6	167366035	167366035	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	25	228	0	ENST00000476238.2:c.88G>A	p.Asp30Asn	p.D30N	ENST00000476238		30	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5295.1	88	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCACTGT	NONE	.	.	hmmpanther:PTHR11240	.	.	ENSP00000426455	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000508775	Transcript	.	.	ENSG00000026297	21686	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.53)	.	RNT2_HUMAN	RNASET2	HGNC	D6RHI9_HUMAN,D6REQ6_HUMAN	.	UPI0000001C84	SNV	RNASET2,missense_variant,p.Asp30Asn,ENST00000478180,;RNASET2,missense_variant,p.Asp30Asn,ENST00000476238,;RP11-514O12.4,missense_variant,p.Asp11Asn,ENST00000507747,;RNASET2,missense_variant,p.Asp30Asn,ENST00000508775,;RNASET2,splice_region_variant,,ENST00000366855,;RNASET2,upstream_gene_variant,,ENST00000496851,;RNASET2,missense_variant,p.Asp30Asn,ENST00000028008,;RNASET2,missense_variant,p.Asp30Asn,ENST00000421787,;RNASET2,non_coding_transcript_exon_variant,,ENST00000499370,;RNASET2,intron_variant,,ENST00000358165,;	608	228	197	SUCCESS
KIF13A	63971	.	GRCh37	6	17828535	17828535	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	50	241	0	ENST00000259711.6:c.1468C>G	p.Gln490Glu	p.Q490E	ENST00000259711	NM_022113.5	490	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS47381.1	1468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGAGGCT	NONE	.	.	Superfamily_domains:SSF49879,Pfam_domain:PF00498,Gene3D:2.60.200.20,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	.	.	ENSP00000259711	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000259711	Transcript	.	.	ENSG00000137177	14566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	KI13A_HUMAN	KIF13A	HGNC	.	.	UPI0000E20DA3	SNV	KIF13A,missense_variant,p.Gln490Glu,ENST00000378814,;KIF13A,missense_variant,p.Gln490Glu,ENST00000378826,;KIF13A,missense_variant,p.Gln490Glu,ENST00000259711,;KIF13A,missense_variant,p.Gln490Glu,ENST00000378816,;KIF13A,missense_variant,p.Gln490Glu,ENST00000378843,;	1574	241	176	SUCCESS
MBOAT1	154141	.	GRCh37	6	20151445	20151445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	107	0	ENST00000324607.7:c.294G>T	p.Met98Ile	p.M98I	ENST00000324607	NM_001080480.2	98	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34346.1	294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACCATGAT	NONE	.	.	hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906	.	.	ENSP00000324944	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000324607	Transcript	.	.	ENSG00000172197	21579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.31)	.	MBOA1_HUMAN	MBOAT1	HGNC	.	.	UPI000020D5D0	SNV	MBOAT1,missense_variant,p.Met98Ile,ENST00000536798,;MBOAT1,missense_variant,p.Met98Ile,ENST00000324607,;MBOAT1,5_prime_UTR_variant,,ENST00000541730,;	459	107	63	SUCCESS
DUSP22	56940	.	GRCh37	6	348816	348816	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs753022752	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	43	138	0	ENST00000344450.5:c.483T>A	p.Asp161Glu	p.D161E	ENST00000344450	NM_020185.3	161	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4468.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGATGCAGA	NONE	.	.	hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29	.	.	ENSP00000345281	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000344450	Transcript	.	.	ENSG00000112679	16077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	DUS22_HUMAN	DUSP22	HGNC	S4R3A4_HUMAN	.	UPI0000036A3C	SNV	DUSP22,missense_variant,p.Asp161Glu,ENST00000419235,;DUSP22,missense_variant,p.Asp58Glu,ENST00000605315,;DUSP22,missense_variant,p.Asp58Glu,ENST00000603453,;DUSP22,missense_variant,p.Asp161Glu,ENST00000344450,;DUSP22,missense_variant,p.Asp58Glu,ENST00000604971,;DUSP22,3_prime_UTR_variant,,ENST00000605035,;DUSP22,downstream_gene_variant,,ENST00000605863,;DUSP22,downstream_gene_variant,,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,downstream_gene_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;	926	138	130	SUCCESS
CLPS	1208	.	GRCh37	6	35762977	35762977	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	35	218	0	ENST00000259938.2:c.285C>T	p.Ser95=	p.S95=	ENST00000259938	NM_001832.3	95	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4811.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGGAGCC	NONE	.	.	Prints_domain:PR00128,Superfamily_domains:SSF57190,SMART_domains:SM00023,Gene3D:2.10.80.10,Pfam_domain:PF02740,hmmpanther:PTHR10041:SF4,hmmpanther:PTHR10041,PROSITE_profiles:PS51342	.	.	ENSP00000259938	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000259938	Transcript	.	.	ENSG00000137392	2085	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COL_HUMAN	CLPS	HGNC	.	.	UPI0000127E78	SNV	CLPS,synonymous_variant,p.%3D,ENST00000259938,;CLPSL1,downstream_gene_variant,,ENST00000428710,;	308	218	157	SUCCESS
GLO1	2739	.	GRCh37	6	38650599	38650599	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	12	116	0	ENST00000373365.4:c.361G>C	p.Asp121His	p.D121H	ENST00000373365	NM_006708.2	121	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS4837.1	361	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCTGAAT	NONE	.	.	hmmpanther:PTHR10374:SF2,hmmpanther:PTHR10374,PROSITE_patterns:PS00935,TIGRFAM_domain:TIGR00068,Pfam_domain:PF00903,Gene3D:3.10.180.10,Superfamily_domains:SSF54593	.	.	ENSP00000362463	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000373365	Transcript	.	.	ENSG00000124767	4323	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	LGUL_HUMAN	GLO1	HGNC	.	.	UPI0000169DF9	SNV	GLO1,missense_variant,p.Asp121His,ENST00000373365,;GLO1,non_coding_transcript_exon_variant,,ENST00000470973,;	448	116	104	SUCCESS
GLO1	2739	.	GRCh37	6	38650627	38650627	+	synonymous_variant	Silent	SNP	C	C	T	rs749648363	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	126	0	ENST00000373365.4:c.333G>A	p.Glu111=	p.E111=	ENST00000373365	NM_006708.2	111	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS4837.1	333	MUTECT|MUSE	.	TGGGTCTCATC	NONE	.	.	hmmpanther:PTHR10374:SF2,hmmpanther:PTHR10374,TIGRFAM_domain:TIGR00068,Pfam_domain:PF00903,Gene3D:3.10.180.10,Superfamily_domains:SSF54593	.	.	ENSP00000362463	.	4/6	.	.	.	.	.	.	.	.	rs749648363	4/6	PASS	ENST00000373365	Transcript	.	.	ENSG00000124767	4323	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LGUL_HUMAN	GLO1	HGNC	.	.	UPI0000169DF9	SNV	GLO1,synonymous_variant,p.%3D,ENST00000373365,;GLO1,non_coding_transcript_exon_variant,,ENST00000470973,;	420	126	102	SUCCESS
DNAH8	1769	.	GRCh37	6	38738285	38738285	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	88	0	ENST00000359357.3:c.1063G>A	p.Glu355Lys	p.E355K	ENST00000359357		355	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	1063	MUTECT|MUSE|VARSCANS	.	TTTCAGAAATG	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	10/91	.	.	.	.	.	.	.	.	COSM1546399,COSM1546398	10/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.996)	.	.	1,1	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Glu355Lys,ENST00000359357,;DNAH8,missense_variant,p.Glu560Lys,ENST00000327475,;DNAH8,missense_variant,p.Glu355Lys,ENST00000441566,;DNAH8,missense_variant,p.Glu572Lys,ENST00000449981,;	1317	88	95	SUCCESS
NFYA	4800	.	GRCh37	6	41051832	41051832	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	128	0	ENST00000341376.6:c.210C>G	p.Ile70Met	p.I70M	ENST00000341376	NM_002505.4	70	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS4849.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATCACATC	NONE	.	.	hmmpanther:PTHR12632	.	.	ENSP00000345702	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000341376	Transcript	.	.	ENSG00000001167	7804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	NFYA_HUMAN	NFYA	HGNC	K9JA49_HUMAN	.	UPI000012717C	SNV	NFYA,missense_variant,p.Ile70Met,ENST00000341376,;NFYA,missense_variant,p.Ile41Met,ENST00000353205,;OARD1,intron_variant,,ENST00000488238,;OARD1,intron_variant,,ENST00000480585,;	411	128	114	SUCCESS
UBR2	23304	.	GRCh37	6	42619803	42619803	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748849434	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	11	204	0	ENST00000372899.1:c.2608G>C	p.Asp870His	p.D870H	ENST00000372899	NM_015255.2	870	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4870.1	2608	MUTECT|MUSE	.	GAGAAGATACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	24/47	.	.	.	.	.	.	.	.	rs748849434	24/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	deleterious(0.01)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Asp870His,ENST00000372901,;UBR2,missense_variant,p.Asp374His,ENST00000372883,;UBR2,missense_variant,p.Asp870His,ENST00000372899,;	2866	204	147	SUCCESS
OGFRL1	79627	.	GRCh37	6	72003250	72003250	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	14	203	0	ENST00000370435.4:c.336C>G	p.Ile112Met	p.I112M	ENST00000370435	NM_024576.3	112	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS34482.1	336	MUTECT|MUSE|VARSCANS	.	GATATCCGATA	NONE	.	.	hmmpanther:PTHR14015:SF2,hmmpanther:PTHR14015,Pfam_domain:PF04664	.	.	ENSP00000359464	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000370435	Transcript	.	.	ENSG00000119900	21378	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.835)	.	tolerated(0.12)	.	OGRL1_HUMAN	OGFRL1	HGNC	.	.	UPI000021D446	SNV	OGFRL1,missense_variant,p.Ile112Met,ENST00000370435,;RP3-331H24.5,downstream_gene_variant,,ENST00000602823,;RP11-154D6.1,intron_variant,,ENST00000587253,;RP11-154D6.1,intron_variant,,ENST00000423255,;RP11-154D6.1,intron_variant,,ENST00000588612,;RP11-154D6.1,intron_variant,,ENST00000591156,;RP11-154D6.1,intron_variant,,ENST00000412751,;RP11-154D6.1,intron_variant,,ENST00000586232,;RP11-154D6.1,downstream_gene_variant,,ENST00000586030,;RP11-154D6.1,downstream_gene_variant,,ENST00000432050,;OGFRL1,non_coding_transcript_exon_variant,,ENST00000467503,;	470	203	180	SUCCESS
POU3F2	5454	.	GRCh37	6	99283990	99283990	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	50	0	ENST00000328345.5:c.1241C>T	p.Pro414Leu	p.P414L	ENST00000328345	NM_005604.3	414	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5040.1	1241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCTCCCG	NONE	.	.	hmmpanther:PTHR11636:SF79,hmmpanther:PTHR11636,SMART_domains:SM00389,PIRSF_domain:PIRSF002629	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.06)	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,missense_variant,p.Pro414Leu,ENST00000328345,;	1411	50	30	SUCCESS
CYP2W1	54905	.	GRCh37	7	1026794	1026794	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753062234	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	70	0	ENST00000308919.7:c.871C>A	p.Leu291Met	p.L291M	ENST00000308919	NM_017781.2	291	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS5319.2	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCTGGAC	NONE	byFrequency	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF50,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000310149	.	6/9	.	.	.	.	.	.	.	.	rs753062234	6/9	PASS	ENST00000308919	Transcript	.	.	ENSG00000073067	20243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	tolerated(0.16)	.	CP2W1_HUMAN	CYP2W1	HGNC	.	.	UPI000013C59A	SNV	CYP2W1,missense_variant,p.Leu65Met,ENST00000415893,;CYP2W1,missense_variant,p.Leu235Met,ENST00000340150,;CYP2W1,missense_variant,p.Leu291Met,ENST00000308919,;CYP2W1,non_coding_transcript_exon_variant,,ENST00000468456,;CYP2W1,non_coding_transcript_exon_variant,,ENST00000462453,;	884	70	69	SUCCESS
VWDE	221806	.	GRCh37	7	12414712	12414712	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	105	232	0	ENST00000275358.3:c.1166G>T	p.Arg389Ile	p.R389I	ENST00000275358	NM_001135924.1	389	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS47544.1	1166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTCTATCT	NONE	.	.	.	.	.	ENSP00000275358	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.01)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Arg389Ile,ENST00000275358,;VWDE,missense_variant,p.Arg389Ile,ENST00000452576,;VWDE,intron_variant,,ENST00000521169,;VWDE,downstream_gene_variant,,ENST00000326715,;	1355	232	210	SUCCESS
INTS1	26173	.	GRCh37	7	1539152	1539152	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	38	46	0	ENST00000404767.3:c.801G>T	p.Leu267=	p.L267=	ENST00000404767	NM_001080453.2	267	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47526.1	801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCAGCAC	NONE	.	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	.	.	ENSP00000385722	.	6/48	.	.	.	.	.	.	.	.	.	6/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,synonymous_variant,p.%3D,ENST00000404767,;INTS1,synonymous_variant,p.%3D,ENST00000389470,;INTS1,downstream_gene_variant,,ENST00000493531,;INTS1,upstream_gene_variant,,ENST00000496988,;	887	46	55	SUCCESS
MACC1	346389	.	GRCh37	7	20199316	20199316	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	67	207	0	ENST00000332878.4:c.668G>T	p.Gly223Val	p.G223V	ENST00000332878		223	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5369.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCCTCCT	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Gly223Val,ENST00000589011,;MACC1,missense_variant,p.Gly223Val,ENST00000400331,;MACC1,missense_variant,p.Gly223Val,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	977	207	230	SUCCESS
SKAP2	8935	.	GRCh37	7	26904118	26904118	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	28	41	0	ENST00000345317.2:c.-70G>A		p.*24*	ENST00000345317	NM_003930.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5400.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGCTGCGA	NONE	.	.	.	.	.	ENSP00000005587	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000345317	Transcript	.	.	ENSG00000005020	15687	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKAP2_HUMAN	SKAP2	HGNC	B7Z5R3_HUMAN	.	UPI0000073C8C	SNV	SKAP2,5_prime_UTR_variant,,ENST00000345317,;SKAP2,intron_variant,,ENST00000432747,;SKAP2,non_coding_transcript_exon_variant,,ENST00000497511,;SKAP2,non_coding_transcript_exon_variant,,ENST00000487720,;SKAP2,intron_variant,,ENST00000481204,;	245	41	44	SUCCESS
CHN2	1124	.	GRCh37	7	29519792	29519792	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	63	183	1	ENST00000222792.6:c.577-103G>A		p.*193*	ENST00000222792	NM_004067.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5420.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGGGCAG	NONE	.	.	.	.	.	ENSP00000222792	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222792	Transcript	.	.	ENSG00000106069	1944	.	.	MODIFIER	6/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHIO_HUMAN	CHN2	HGNC	A4D1A2_HUMAN	.	UPI000012781F	SNV	CHN2,synonymous_variant,p.%3D,ENST00000409041,;CHN2,synonymous_variant,p.%3D,ENST00000424025,;CHN2,synonymous_variant,p.%3D,ENST00000439711,;CHN2,synonymous_variant,p.%3D,ENST00000421775,;CHN2,intron_variant,,ENST00000539406,;CHN2,intron_variant,,ENST00000495789,;CHN2,intron_variant,,ENST00000539389,;CHN2,intron_variant,,ENST00000446446,;CHN2,intron_variant,,ENST00000435288,;CHN2,intron_variant,,ENST00000546235,;CHN2,intron_variant,,ENST00000222792,;CHN2,non_coding_transcript_exon_variant,,ENST00000467441,;CHN2,intron_variant,,ENST00000493906,;CHN2,upstream_gene_variant,,ENST00000410098,;CHN2,non_coding_transcript_exon_variant,,ENST00000412711,;CHN2,intron_variant,,ENST00000474070,;	.	184	223	SUCCESS
BMPER	168667	.	GRCh37	7	34097695	34097695	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	266	111	321	0	ENST00000297161.2:c.952A>T	p.Asn318Tyr	p.N318Y	ENST00000297161	NM_133468.4	318	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS5442.1	952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCAATTGT	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000297161	.	11/16	.	.	.	.	.	.	.	.	COSM452996	11/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.905)	.	deleterious(0.02)	1	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Asn318Tyr,ENST00000297161,;BMPER,missense_variant,p.Asn318Tyr,ENST00000426693,;BMPER,downstream_gene_variant,,ENST00000494786,;	1326	321	377	SUCCESS
ZDHHC4	55146	.	GRCh37	7	6624765	6624765	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	155	229	0	ENST00000335965.6:c.615T>G	p.Ala205=	p.A205=	ENST00000335965		205	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS5352.1	615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCTGCCAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF47,Pfam_domain:PF01529	.	.	ENSP00000379934	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000396706	Transcript	.	.	ENSG00000136247	18471	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDHC4_HUMAN	ZDHHC4	HGNC	C9J5I9_HUMAN	.	UPI0000048F5A	SNV	ZDHHC4,synonymous_variant,p.%3D,ENST00000396707,;ZDHHC4,synonymous_variant,p.%3D,ENST00000396709,;ZDHHC4,synonymous_variant,p.%3D,ENST00000396706,;ZDHHC4,synonymous_variant,p.%3D,ENST00000335965,;ZDHHC4,synonymous_variant,p.%3D,ENST00000396713,;ZDHHC4,synonymous_variant,p.%3D,ENST00000405731,;C7orf26,upstream_gene_variant,,ENST00000344417,;ZDHHC4,downstream_gene_variant,,ENST00000483589,;AC079742.4,intron_variant,,ENST00000434951,;ZDHHC4,downstream_gene_variant,,ENST00000496017,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000474738,;ZDHHC4,downstream_gene_variant,,ENST00000489138,;ZDHHC4,downstream_gene_variant,,ENST00000493944,;ZDHHC4,downstream_gene_variant,,ENST00000474097,;	1058	229	301	SUCCESS
TFPI2	7980	.	GRCh37	7	93516721	93516721	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	65	95	0	ENST00000222543.5:c.483A>G	p.Pro161=	p.P161=	ENST00000222543	NM_001271004.1	161	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5632.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTGGACT	NONE	.	.	PROSITE_profiles:PS50279,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF89,Gene3D:4.10.410.10,Pfam_domain:PF00014,PIRSF_domain:PIRSF001620,SMART_domains:SM00131,Superfamily_domains:SSF57362	.	.	ENSP00000222543	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000222543	Transcript	.	.	ENSG00000105825	11761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFPI2_HUMAN	TFPI2	HGNC	Q8NE89_HUMAN,Q8NAK6_HUMAN	.	UPI00000362E2	SNV	TFPI2,synonymous_variant,p.%3D,ENST00000222543,;TFPI2,intron_variant,,ENST00000451238,;GNGT1,intron_variant,,ENST00000455502,;TFPI2,intron_variant,,ENST00000545378,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,downstream_gene_variant,,ENST00000461482,;	796	95	109	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110454292	110454292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	64	213	0	ENST00000378402.5:c.4261A>G	p.Thr1421Ala	p.T1421A	ENST00000378402	NM_177531.4	1421	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47911.1	4261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACACAGTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Superfamily_domains:SSF49503	.	.	ENSP00000367655	.	35/78	.	.	.	.	.	.	.	.	.	35/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	tolerated(0.08)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Thr1421Ala,ENST00000378402,;	4365	213	171	SUCCESS
CSMD1	64478	.	GRCh37	8	3565967	3565967	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs769213926	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	42	94	0	ENST00000537824.1:c.978del	p.Ser327AlafsTer11	p.S327Afs*11	ENST00000537824	NM_033225.5	326	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS55189.1	978	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGCTGGGCAG	NONE	.	.	.	.	.	ENSP00000441462	.	7/70	.	.	.	.	.	.	.	.	rs769213926	7/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	deletion	CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000400186,;CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000542608,;CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000602723,;CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000539096,;CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000537824,;CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000602557,;CSMD1,frameshift_variant,p.Ser327AlafsTer11,ENST00000520002,;CSMD1,non_coding_transcript_exon_variant,,ENST00000518151,;	978	94	130	SUCCESS
ADAM2	2515	.	GRCh37	8	39644537	39644537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	94	347	0	ENST00000265708.4:c.847C>A	p.Gln283Lys	p.Q283K	ENST00000265708	NM_001464.4	283	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34884.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGAAAGG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000265708	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000265708	Transcript	.	.	ENSG00000104755	198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.41)	.	ADAM2_HUMAN	ADAM2	HGNC	.	.	UPI00001254C2	SNV	ADAM2,missense_variant,p.Gln283Lys,ENST00000521880,;ADAM2,missense_variant,p.Gln283Lys,ENST00000265708,;ADAM2,missense_variant,p.Gln264Lys,ENST00000347580,;ADAM2,intron_variant,,ENST00000379853,;	951	347	268	SUCCESS
ANK1	286	.	GRCh37	8	41559138	41559138	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	134	0	ENST00000347528.4:c.2391A>G		p.X797_splice	ENST00000347528	NM_020477.2	797	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47849.1	2490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACTAACTA	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Superfamily_domains:SSF48403	.	.	ENSP00000265709	.	22/43	.	.	.	.	.	.	.	.	.	22/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,synonymous_variant,p.%3D,ENST00000265709,;ANK1,synonymous_variant,p.%3D,ENST00000289734,;ANK1,synonymous_variant,p.%3D,ENST00000347528,;ANK1,synonymous_variant,p.%3D,ENST00000520299,;ANK1,synonymous_variant,p.%3D,ENST00000352337,;ANK1,synonymous_variant,p.%3D,ENST00000379758,;ANK1,synonymous_variant,p.%3D,ENST00000396942,;ANK1,synonymous_variant,p.%3D,ENST00000396945,;ANK1,upstream_gene_variant,,ENST00000524227,;	2772	134	79	SUCCESS
FRRS1L	23732	.	GRCh37	9	111899753	111899753	+	synonymous_variant	Silent	SNP	T	T	C	rs930729318	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	123	0	ENST00000561981.2:c.1017A>G	p.Leu339=	p.L339=	ENST00000561981	NM_014334.2	339	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS35098.1	1017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATAGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23130:SF65,hmmpanther:PTHR23130	.	.	ENSP00000477141	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000561981	Transcript	.	.	ENSG00000260230	1362	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRS1L_HUMAN	FRRS1L	HGNC	.	.	UPI000013D040	SNV	FRRS1L,synonymous_variant,p.%3D,ENST00000561981,;	1017	123	83	SUCCESS
KIAA0368	0	.	GRCh37	9	114213731	114213731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	57	215	0	ENST00000259335.4:c.661A>G	p.Ser221Gly	p.S221G	ENST00000259335	NM_001080398.1	221	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS48006.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTAGAGA	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Pfam_domain:PF13001,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	4/51	.	.	.	.	.	.	.	.	.	4/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Ser43Gly,ENST00000602978,;KIAA0368,missense_variant,p.Ser43Gly,ENST00000338205,;KIAA0368,missense_variant,p.Ser49Gly,ENST00000602447,;KIAA0368,missense_variant,p.Ser221Gly,ENST00000259335,;	661	215	148	SUCCESS
LCN8	138307	.	GRCh37	9	139651621	139651621	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	68	0	ENST00000371688.3:c.25-1G>T		p.X9_splice	ENST00000371688	NM_178469.3	9		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35183.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATCTAGAG	NONE	.	.	.	.	.	ENSP00000360753	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371688	Transcript	.	.	ENSG00000204001	27038	.	.	HIGH	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCN8_HUMAN	LCN8	HGNC	.	.	UPI00000498C5	SNV	LCN8,splice_acceptor_variant,,ENST00000371688,;LCN15,downstream_gene_variant,,ENST00000316144,;LCN8,non_coding_transcript_exon_variant,,ENST00000479767,;LCN8,non_coding_transcript_exon_variant,,ENST00000482893,;LCN15,downstream_gene_variant,,ENST00000482511,;LCN15,downstream_gene_variant,,ENST00000495223,;LCN8,upstream_gene_variant,,ENST00000480597,;	.	68	43	SUCCESS
CACNA1B	774	.	GRCh37	9	140991060	140991060	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779763934	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	74	0	ENST00000371372.1:c.5219C>A	p.Ala1740Glu	p.A1740E	ENST00000371372	NM_001243812.1	1740	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS59522.1	5219	MUTECT|MUSE|VARSCANS	.	GGCTGCGTGGT	NONE	.	.	hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,PROSITE_profiles:PS50222	.	.	ENSP00000360423	.	37/47	.	.	.	.	.	.	.	.	rs779763934	37/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Ala105Glu,ENST00000413253,;CACNA1B,missense_variant,p.Ala1741Glu,ENST00000371355,;CACNA1B,missense_variant,p.Ala1739Glu,ENST00000371357,;CACNA1B,missense_variant,p.Ala934Glu,ENST00000277549,;CACNA1B,missense_variant,p.Ala1740Glu,ENST00000277551,;CACNA1B,missense_variant,p.Ala104Glu,ENST00000371365,;CACNA1B,missense_variant,p.Ala1738Glu,ENST00000371363,;CACNA1B,missense_variant,p.Ala1740Glu,ENST00000371372,;	5364	74	66	SUCCESS
NTRK2	4915	.	GRCh37	9	87570246	87570246	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	38	0	ENST00000277120.3:c.1986G>T	p.Thr662=	p.T662=	ENST00000277120		662	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6671.1	1986	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGGAACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000365387	.	19/21	.	.	.	.	.	.	.	.	COSM1463384,COSM1463385	19/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,synonymous_variant,p.%3D,ENST00000376213,;NTRK2,synonymous_variant,p.%3D,ENST00000376214,;NTRK2,synonymous_variant,p.%3D,ENST00000323115,;NTRK2,synonymous_variant,p.%3D,ENST00000277120,;	2924	38	31	SUCCESS
IRS4	8471	.	GRCh37	X	107977031	107977031	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	68	276	0	ENST00000372129.2:c.2544C>A	p.Asn848Lys	p.N848K	ENST00000372129	NM_003604.2	848	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS14544.1	2544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGTTATA	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.14)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Asn848Lys,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	2621	276	210	SUCCESS
GRIA3	2892	.	GRCh37	X	122616686	122616686	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	67	194	0	ENST00000264357.5:c.2476G>A	p.Gly826Ser	p.G826S	ENST00000264357	NM_000828.4	826	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS14604.1	2476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGGCGTT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00177,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	15/16	.	.	.	.	.	.	.	.	COSM1114296,COSM1114298,COSM1598743	15/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,missense_variant,p.Gly826Ser,ENST00000371256,;GRIA3,missense_variant,p.Gly826Ser,ENST00000264357,;GRIA3,missense_variant,p.Gly826Ser,ENST00000371251,;GRIA3,3_prime_UTR_variant,,ENST00000542149,;GRIA3,non_coding_transcript_exon_variant,,ENST00000460123,;	2768	195	153	SUCCESS
SLC9A6	10479	.	GRCh37	X	135080330	135080330	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	246	145	529	0	ENST00000370698.3:c.493T>A	p.Tyr165Asn	p.Y165N	ENST00000370698	NM_006359.2	165	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS44003.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTTATAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF94,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999,Prints_domain:PR01084	.	.	ENSP00000359729	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000370695	Transcript	.	.	ENSG00000198689	11079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	deleterious(0)	.	SL9A6_HUMAN	SLC9A6	HGNC	Q8WYK8_HUMAN,B4DLY9_HUMAN,B4DK83_HUMAN	.	UPI0000062320	SNV	SLC9A6,missense_variant,p.Tyr197Asn,ENST00000370695,;SLC9A6,missense_variant,p.Tyr165Asn,ENST00000370698,;SLC9A6,missense_variant,p.Tyr145Asn,ENST00000370701,;	624	530	391	SUCCESS
MAGEC1	9947	.	GRCh37	X	140993822	140993822	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	573	94	894	0	ENST00000285879.4:c.632T>C	p.Leu211Ser	p.L211S	ENST00000285879	NM_005462.4	211	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS35417.1	632	RADIA|MUTECT|MUSE|VARSCANS	.	TTTATTGAGTA	NONE	.	.	.	.	.	ENSP00000285879	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000285879	Transcript	.	.	ENSG00000155495	6812	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	MAGC1_HUMAN	MAGEC1	HGNC	A0PK03_HUMAN	.	UPI000006F2FD	SNV	MAGEC1,missense_variant,p.Leu211Ser,ENST00000285879,;MAGEC1,intron_variant,,ENST00000406005,;	918	894	667	SUCCESS
CD99L2	83692	.	GRCh37	X	149945863	149945863	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	29	0	ENST00000370377.3:c.535+54T>C		p.*179*	ENST00000370377	NM_031462.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35427.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAGATTC	NONE	.	.	.	.	.	ENSP00000359403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370377	Transcript	.	.	ENSG00000102181	18237	.	.	MODIFIER	8/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C99L2_HUMAN	CD99L2	HGNC	.	.	UPI0000034CC0	SNV	CD99L2,3_prime_UTR_variant,,ENST00000418547,;CD99L2,intron_variant,,ENST00000466436,;CD99L2,intron_variant,,ENST00000437787,;CD99L2,intron_variant,,ENST00000355149,;CD99L2,intron_variant,,ENST00000370377,;CD99L2,non_coding_transcript_exon_variant,,ENST00000346693,;	.	29	26	SUCCESS
PASD1	139135	.	GRCh37	X	150840760	150840760	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	67	261	0	ENST00000370357.4:c.1543A>T	p.Met515Leu	p.M515L	ENST00000370357	NM_173493.2	515	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS35431.1	1543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGATGCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000359382	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000370357	Transcript	.	.	ENSG00000166049	20686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.86)	.	PASD1_HUMAN	PASD1	HGNC	.	.	UPI0000074686	SNV	PASD1,missense_variant,p.Met515Leu,ENST00000370357,;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,downstream_gene_variant,,ENST00000413236,;	1788	261	213	SUCCESS
GABRA3	2556	.	GRCh37	X	151424438	151424438	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	12	179	0	ENST00000370314.4:c.363A>T	p.Thr121=	p.T121=	ENST00000370314	NM_000808.3	121	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14706.1	363	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATGTCTG	BUFFER|p.R9W|c.25C>T|3,BUFFER|p.R119W|c.355C>T|3	.	.	Prints_domain:PR00252,Superfamily_domains:0038932,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945	.	.	ENSP00000359337	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000370314	Transcript	.	.	ENSG00000011677	4077	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRA3_HUMAN	GABRA3	HGNC	.	.	UPI000002D730	SNV	GABRA3,synonymous_variant,p.%3D,ENST00000535043,;GABRA3,synonymous_variant,p.%3D,ENST00000370314,;GABRA3,non_coding_transcript_exon_variant,,ENST00000417858,;	602	179	128	SUCCESS
IL1RAPL1	11141	.	GRCh37	X	29973331	29973331	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	85	315	0	ENST00000378993.1:c.1485A>T	p.Arg495Ser	p.R495S	ENST00000378993	NM_014271.3	495	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS14218.1	1485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGACTTCG	NONE	.	.	Prints_domain:PR01537,Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF20,PROSITE_profiles:PS50104	.	.	ENSP00000368278	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000378993	Transcript	.	.	ENSG00000169306	5996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.13)	.	IRPL1_HUMAN	IL1RAPL1	HGNC	Q7Z2H0_HUMAN	.	UPI000006D1BF	SNV	IL1RAPL1,missense_variant,p.Arg495Ser,ENST00000378993,;IL1RAPL1,missense_variant,p.Arg495Ser,ENST00000302196,;	2158	315	224	SUCCESS
XK	7504	.	GRCh37	X	37545177	37545177	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	22	0	ENST00000378616.3:c.-38C>A		p.*13*	ENST00000378616	NM_021083.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14241.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCACTGCGT	NONE	.	.	.	.	.	ENSP00000367879	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000378616	Transcript	.	.	ENSG00000047597	12811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XK_HUMAN	XK	HGNC	Q2Z218_HUMAN	.	UPI0000139000	SNV	XK,5_prime_UTR_variant,,ENST00000378616,;TM4SF2,intron_variant,,ENST00000465127,;LANCL3,downstream_gene_variant,,ENST00000378621,;	166	22	22	SUCCESS
EDA	1896	.	GRCh37	X	69249366	69249366	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	47	194	0	ENST00000374552.4:c.719A>T	p.Lys240Ile	p.K240I	ENST00000374552	NM_001399.4	240	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS14394.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATAAAGCTG	NONE	.	.	hmmpanther:PTHR24023:SF62,hmmpanther:PTHR24023	.	.	ENSP00000363680	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000374552	Transcript	.	.	ENSG00000158813	3157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	deleterious_low_confidence(0)	.	EDA_HUMAN	EDA	HGNC	D6RA95_HUMAN	.	UPI0000052244	SNV	EDA,missense_variant,p.Lys240Ile,ENST00000374553,;EDA,missense_variant,p.Lys108Ile,ENST00000503592,;EDA,missense_variant,p.Lys240Ile,ENST00000524573,;EDA,missense_variant,p.Lys240Ile,ENST00000374552,;	961	194	125	SUCCESS
PHKA1	5255	.	GRCh37	X	71855112	71855112	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	56	169	0	ENST00000373542.4:c.1607A>G	p.Asn536Ser	p.N536S	ENST00000373542	NM_002637.3	536	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS14421.1	1607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGTTGTCC	NONE	.	.	hmmpanther:PTHR10749:SF4,hmmpanther:PTHR10749,Pfam_domain:PF00723	.	.	ENSP00000362643	.	16/32	.	.	.	.	.	.	.	.	.	16/32	PASS	ENST00000373542	Transcript	.	.	ENSG00000067177	8925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	tolerated(0.14)	.	KPB1_HUMAN	PHKA1	HGNC	.	.	UPI000013D340	SNV	PHKA1,missense_variant,p.Asn536Ser,ENST00000373545,;PHKA1,missense_variant,p.Asn536Ser,ENST00000339490,;PHKA1,missense_variant,p.Asn536Ser,ENST00000373542,;PHKA1,missense_variant,p.Asn536Ser,ENST00000541944,;PHKA1,missense_variant,p.Asn536Ser,ENST00000373539,;	1767	169	140	SUCCESS
ATP7A	538	.	GRCh37	X	77243771	77243771	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	60	268	0	ENST00000341514.6:c.154T>A	p.Tyr52Asn	p.Y52N	ENST00000341514	NM_000052.5	52	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS35339.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTTATGAC	NONE	.	.	Prints_domain:PR00942,Superfamily_domains:SSF55008,Pfam_domain:PF00403,TIGRFAM_domain:TIGR00003,Gene3D:3.30.70.100,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF211,PROSITE_profiles:PS50846	.	.	ENSP00000345728	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000341514	Transcript	.	.	ENSG00000165240	869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	ATP7A_HUMAN	ATP7A	HGNC	.	.	UPI000013E478	SNV	ATP7A,missense_variant,p.Tyr52Asn,ENST00000343533,;ATP7A,missense_variant,p.Tyr52Asn,ENST00000341514,;ATP7A,intron_variant,,ENST00000350425,;	309	268	211	SUCCESS
MKI67	4288	.	GRCh37	10	129901194	129901194	+	synonymous_variant	Silent	SNP	G	G	A	rs371689181	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	85	0	ENST00000368654.3:c.8910C>T	p.Pro2970=	p.P2970=	ENST00000368654	NM_002417.4	2970	ccC/ccT	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS7659.1	8910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGGGTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	A:0	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	rs371689181	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,synonymous_variant,p.%3D,ENST00000368654,;MKI67,synonymous_variant,p.%3D,ENST00000368653,;MKI67,non_coding_transcript_exon_variant,,ENST00000464771,;	9286	85	86	SUCCESS
PARD3	56288	.	GRCh37	10	34601219	34601219	+	intron_variant	Intron	SNP	A	A	T	rs1589141355	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	82	0	ENST00000374789.3:c.3074+4816T>A		p.*1025*	ENST00000374789	NM_019619.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7178.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTAAAAAA	NONE	.	.	.	.	.	ENSP00000363921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODIFIER	20/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,3_prime_UTR_variant,,ENST00000544292,;PARD3,3_prime_UTR_variant,,ENST00000340077,;PARD3,3_prime_UTR_variant,,ENST00000374776,;PARD3,3_prime_UTR_variant,,ENST00000374773,;PARD3,intron_variant,,ENST00000545260,;PARD3,intron_variant,,ENST00000545693,;PARD3,intron_variant,,ENST00000374788,;PARD3,intron_variant,,ENST00000374790,;PARD3,intron_variant,,ENST00000374794,;PARD3,intron_variant,,ENST00000350537,;PARD3,intron_variant,,ENST00000374789,;PARD3,intron_variant,,ENST00000346874,;PARD3,intron_variant,,ENST00000466092,;	.	82	75	SUCCESS
AKR1C1	1645	.	GRCh37	10	5005692	5005692	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	11	185	0	ENST00000380872.4:c.56T>G	p.Leu19Arg	p.L19R	ENST00000380872	NM_001353.5	19	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS7061.1	56	MUTECT|MUSE|VARSCANS	.	TGTCCTGGGAT	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	.	.	ENSP00000370254	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000380872	Transcript	.	.	ENSG00000187134	384	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	AK1C1_HUMAN	AKR1C1	HGNC	.	.	UPI0000125760	SNV	AKR1C1,missense_variant,p.Leu18Arg,ENST00000442997,;AKR1C1,missense_variant,p.Leu19Arg,ENST00000434459,;AKR1C1,missense_variant,p.Leu19Arg,ENST00000380872,;AKR1C1,upstream_gene_variant,,ENST00000380859,;U8,upstream_gene_variant,,ENST00000459095,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000477661,;AKR1C1,upstream_gene_variant,,ENST00000476100,;	248	185	129	SUCCESS
ETS1	2113	.	GRCh37	11	128426289	128426289	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761017534	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	28	136	0	ENST00000392668.4:c.111C>G	p.Asn37Lys	p.N37K	ENST00000392668	NM_001143820.1	37	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS44767.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGTTCAT	NONE	byFrequency	.	PIRSF_domain:PIRSF001698	.	.	ENSP00000376436	.	3/10	.	.	.	.	.	.	.	.	rs761017534	3/10	PASS	ENST00000392668	Transcript	.	.	ENSG00000134954	3488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.1)	.	ETS1_HUMAN	ETS1	HGNC	.	.	UPI00001BDB62	SNV	ETS1,missense_variant,p.Asn37Lys,ENST00000392668,;ETS1,non_coding_transcript_exon_variant,,ENST00000525404,;	196	136	134	SUCCESS
KCNQ1	3784	.	GRCh37	11	2869140	2869140	+	synonymous_variant	Silent	SNP	C	C	T	rs184844767	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	38	0	ENST00000155840.5:c.1938C>T	p.Gly646=	p.G646=	ENST00000155840	NM_000218.2	646	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7736.1	1938	RADIA|SOMATICSNIPER|VARSCANS	.	GGCGGCTCCGT	NONE	byFrequency|byCluster|by1000G	.	.	.	.	ENSP00000155840	.	16/16	.	.	.	.	.	.	.	.	rs184844767	16/16	PASS	ENST00000155840	Transcript	.	.	ENSG00000053918	6294	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNQ1_HUMAN	KCNQ1	HGNC	Q96AI9_HUMAN,A0FIK7_HUMAN	.	UPI000004662D	SNV	KCNQ1,synonymous_variant,p.%3D,ENST00000155840,;KCNQ1,synonymous_variant,p.%3D,ENST00000335475,;KCNQ1-AS1,intron_variant,,ENST00000440887,;KCNQ1,non_coding_transcript_exon_variant,,ENST00000526095,;	2046	38	37	SUCCESS
SSH3	54961	.	GRCh37	11	67077797	67077797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	74	0	ENST00000308127.4:c.1670G>T	p.Ser557Ile	p.S557I	ENST00000308127	NM_017857.3	557	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS8157.1	1670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGTGACA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000312081	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000308127	Transcript	.	.	ENSG00000172830	30581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	deleterious_low_confidence(0.03)	.	SSH3_HUMAN	SSH3	HGNC	.	.	UPI0000038D01	SNV	SSH3,missense_variant,p.Ser557Ile,ENST00000308127,;SSH3,missense_variant,p.Ser292Ile,ENST00000308298,;SSH3,3_prime_UTR_variant,,ENST00000376757,;SSH3,downstream_gene_variant,,ENST00000527821,;SSH3,downstream_gene_variant,,ENST00000529224,;SSH3,downstream_gene_variant,,ENST00000531495,;SSH3,upstream_gene_variant,,ENST00000525913,;SSH3,downstream_gene_variant,,ENST00000532181,;SSH3,3_prime_UTR_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	1848	74	60	SUCCESS
FAT3	120114	.	GRCh37	11	92534030	92534030	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	68	0	ENST00000298047.6:c.7851C>T	p.His2617=	p.H2617=	ENST00000298047		2617	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	.	7851	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACTTGGT	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;	7868	68	48	SUCCESS
FAT3	120114	.	GRCh37	11	92613908	92613908	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs779838844	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	64	0	ENST00000298047.6:c.12139A>T	p.Thr4047Ser	p.T4047S	ENST00000298047		4047	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	.	12139	RADIA|MUSE|VARSCANS	.	AGTGTACCTGT	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00179,SMART_domains:SM00181,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50026	.	.	ENSP00000298047	.	22/27	.	.	.	.	.	.	.	.	rs779838844	22/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Thr382Ser,ENST00000533797,;FAT3,missense_variant,p.Thr4047Ser,ENST00000298047,;FAT3,missense_variant,p.Thr4047Ser,ENST00000409404,;FAT3,missense_variant,p.Thr3897Ser,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000489716,;	12156	64	61	SUCCESS
MAML2	84441	.	GRCh37	11	96074699	96074699	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	17	122	1	ENST00000524717.1:c.361A>G	p.Thr121Ala	p.T121A	ENST00000524717	NM_032427.1	121	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS44714.1	361	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9	.	.	ENSP00000434552	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	SNV	MAML2,missense_variant,p.Thr121Ala,ENST00000524717,;MIR1260B,downstream_gene_variant,,ENST00000582890,;	1646	123	119	SUCCESS
FGF6	2251	.	GRCh37	12	4554706	4554706	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	26	0	ENST00000228837.2:c.31A>G	p.Met11Val	p.M11V	ENST00000228837	NM_020996.1	11	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8527.1	31	SOMATICSNIPER|VARSCANS	.	GGACATAGTGA	NONE	.	.	hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25	.	.	ENSP00000228837	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.824)	.	deleterious_low_confidence(0.01)	.	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,missense_variant,p.Met11Val,ENST00000228837,;FGF6,upstream_gene_variant,,ENST00000543077,;	75	26	18	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50185782	50185782	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372382126	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	34	0	ENST00000335999.6:c.3845C>T	p.Thr1282Met	p.T1282M	ENST00000335999	NM_001037806.3	1282	aCg/aTg	0	A:0.0003	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS41781.2	3845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGTAGGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21740	A:0	A:0	ENSP00000337998	A:0	13/13	.	.	.	.	.	.	.	.	rs372382126,COSM4042529,COSM4042528	13/13	common_in_exac	ENST00000335999	Transcript	.	A:0.0010	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.029)	A:0.0051	tolerated(0.11)	0,1,1	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Thr1282Met,ENST00000335999,;NCKAP5L,3_prime_UTR_variant,,ENST00000433948,;	4047	34	51	SUCCESS
NR4A1	3164	.	GRCh37	12	52448249	52448249	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	69	0	ENST00000243050.1:c.137C>T	p.Ala46Val	p.A46V	ENST00000243050	NM_002135.4	46	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS55828.1	176	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Prints_domain:PR01285,Prints_domain:PR01284	.	.	ENSP00000353427	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000360284	Transcript	.	.	ENSG00000123358	7980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.08)	.	NR4A1_HUMAN	NR4A1	HGNC	H3BT85_HUMAN,H3BSB9_HUMAN,H3BPN8_HUMAN	.	UPI00001FC28B	SNV	NR4A1,missense_variant,p.Ala46Val,ENST00000394824,;NR4A1,missense_variant,p.Ala12Val,ENST00000562373,;NR4A1,missense_variant,p.Ala46Val,ENST00000550763,;NR4A1,missense_variant,p.Ala59Val,ENST00000550082,;NR4A1,missense_variant,p.Ala46Val,ENST00000243050,;NR4A1,missense_variant,p.Ala59Val,ENST00000360284,;NR4A1,missense_variant,p.Ala46Val,ENST00000548232,;NR4A1,missense_variant,p.Ala46Val,ENST00000394825,;NR4A1,missense_variant,p.Ala59Val,ENST00000546842,;NR4A1,missense_variant,p.Ala100Val,ENST00000545748,;NR4A1,missense_variant,p.Ala59Val,ENST00000548977,;NR4A1,upstream_gene_variant,,ENST00000550582,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,non_coding_transcript_exon_variant,,ENST00000547206,;NR4A1,intron_variant,,ENST00000548733,;NR4A1,non_coding_transcript_exon_variant,,ENST00000478250,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,upstream_gene_variant,,ENST00000550339,;NR4A1,upstream_gene_variant,,ENST00000567890,;NR4A1,upstream_gene_variant,,ENST00000564201,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,upstream_gene_variant,,ENST00000565848,;	367	69	49	SUCCESS
KRT86	3892	.	GRCh37	12	52699951	52699951	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	27	113	1	ENST00000293525.5:c.1134C>A	p.Ala378=	p.A378=	ENST00000293525	NM_002284.3	378	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS41785.1	1134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCAAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000293525	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,synonymous_variant,p.%3D,ENST00000293525,;KRT86,synonymous_variant,p.%3D,ENST00000423955,;KRT86,synonymous_variant,p.%3D,ENST00000544024,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	1186	114	115	SUCCESS
USP5	8078	.	GRCh37	12	6974387	6974387	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782621306	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	11	98	0	ENST00000229268.8:c.2458G>A	p.Val820Ile	p.V820I	ENST00000229268	NM_001098536.1	820	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS41743.1	2458	RADIA|MUTECT|MUSE|VARSCANS	.	ACTACGTCTGC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001	.	.	ENSP00000229268	.	19/20	.	.	.	.	.	.	.	.	rs782621306	19/20	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.787)	.	deleterious(0.04)	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,missense_variant,p.Val820Ile,ENST00000229268,;USP5,missense_variant,p.Val797Ile,ENST00000389231,;TPI1,upstream_gene_variant,,ENST00000396705,;TPI1,upstream_gene_variant,,ENST00000229270,;TPI1,upstream_gene_variant,,ENST00000535434,;TPI1,upstream_gene_variant,,ENST00000488464,;TPI1,upstream_gene_variant,,ENST00000495834,;TPI1,upstream_gene_variant,,ENST00000462761,;TPI1,upstream_gene_variant,,ENST00000493987,;USP5,downstream_gene_variant,,ENST00000542087,;USP5,downstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000542371,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;TPI1,upstream_gene_variant,,ENST00000482209,;TPI1,upstream_gene_variant,,ENST00000474253,;	2510	98	104	SUCCESS
PZP	5858	.	GRCh37	12	9344850	9344850	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	72	0	ENST00000261336.2:c.1485C>A		p.X495_splice	ENST00000261336	NM_002864.2	495	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8600.1	1485	MUTECT|MUSE	.	GCCATGATCTG	NONE	.	.	Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	.	.	ENSP00000261336	.	13/36	.	.	.	.	.	.	.	.	.	13/36	PASS	ENST00000261336	Transcript	.	.	ENSG00000126838	9750	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PZP_HUMAN	PZP	HGNC	.	.	UPI000013D168	SNV	PZP,synonymous_variant,p.%3D,ENST00000261336,;PZP,synonymous_variant,p.%3D,ENST00000381997,;PZP,splice_region_variant,,ENST00000535230,;	1514	72	73	SUCCESS
DCLK1	9201	.	GRCh37	13	36424827	36424827	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	35	155	0	ENST00000360631.3:c.1035+3809G>T		p.*345*	ENST00000360631				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9354.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATCACAAACC	NONE	.	.	.	.	.	ENSP00000255448	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	MODIFIER	6/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,3_prime_UTR_variant,,ENST00000379892,;DCLK1,intron_variant,,ENST00000360631,;DCLK1,intron_variant,,ENST00000379893,;DCLK1,intron_variant,,ENST00000255448,;DCLK1,non_coding_transcript_exon_variant,,ENST00000460982,;	.	155	138	SUCCESS
OLFM4	10562	.	GRCh37	13	53617269	53617269	+	synonymous_variant	Silent	SNP	G	G	A	rs1593481061	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	10	98	0	ENST00000219022.2:c.600G>A	p.Lys200=	p.K200=	ENST00000219022	NM_006418.4	200	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS9440.1	600	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGCTTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7	.	.	ENSP00000219022	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000219022	Transcript	.	.	ENSG00000102837	17190	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OLFM4_HUMAN	OLFM4	HGNC	.	.	UPI00000359F0	SNV	OLFM4,synonymous_variant,p.%3D,ENST00000219022,;	678	98	102	SUCCESS
PABPN1	8106	.	GRCh37	14	23793427	23793427	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	95	0	ENST00000216727.4:c.810C>T	p.Thr270=	p.T270=	ENST00000216727	NM_004643.3	270	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9592.1	810	MUTECT|MUSE	.	CGGACCACCAA	NONE	.	.	Superfamily_domains:SSF54928,hmmpanther:PTHR23365,hmmpanther:PTHR23365:SF1	.	.	ENSP00000216727	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000216727	Transcript	.	.	ENSG00000100836	8565	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PABP2_HUMAN	PABPN1	HGNC	G3V4T2_HUMAN	.	UPI000006F6E7	SNV	PABPN1,synonymous_variant,p.%3D,ENST00000557702,;BCL2L2-PABPN1,synonymous_variant,p.%3D,ENST00000557008,;BCL2L2-PABPN1,synonymous_variant,p.%3D,ENST00000553781,;PABPN1,synonymous_variant,p.%3D,ENST00000555295,;PABPN1,synonymous_variant,p.%3D,ENST00000556821,;PABPN1,synonymous_variant,p.%3D,ENST00000216727,;PABPN1,synonymous_variant,p.%3D,ENST00000397276,;AL049829.1,upstream_gene_variant,,ENST00000594872,;BCL2L2-PABPN1,downstream_gene_variant,,ENST00000556100,;PABPN1,non_coding_transcript_exon_variant,,ENST00000553960,;PABPN1,downstream_gene_variant,,ENST00000556809,;PABPN1,downstream_gene_variant,,ENST00000554062,;	991	95	63	SUCCESS
SERPINA1	5265	.	GRCh37	14	94848963	94848964	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	rs921982028	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	75	0	ENST00000355814.4:c.611_612del	p.Thr204SerfsTer11	p.T204Sfs*11	ENST00000355814	NM_001002235.2	204	aCA/a	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS9925.1	611-612	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAAACTGTGTCT	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461:SF150,hmmpanther:PTHR11461	.	.	ENSP00000416066	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000448921	Transcript	1	.	ENSG00000197249	8941	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A1AT_HUMAN	SERPINA1	HGNC	Q3I0J7_HUMAN,G3V5R8_HUMAN,G3V544_HUMAN,G3V4I7_HUMAN,G3V387_HUMAN,G3V2B9_HUMAN,E9KL23_HUMAN,A6YP93_HUMAN	.	UPI000000CBEC	deletion	SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000448921,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000449399,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000355814,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000404814,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000393088,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000393087,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000437397,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000402629,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000440909,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,frameshift_variant,p.Thr204SerfsTer11,ENST00000489769,;	1184-1185	75	55	SUCCESS
MYO1E	4643	.	GRCh37	15	59455465	59455465	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	74	1	ENST00000288235.4:c.2518G>A	p.Glu840Lys	p.E840K	ENST00000288235	NM_004998.3	840	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS32254.1	2518	MUTECT|MUSE	.	ATACTCTTGCT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF06017	.	.	ENSP00000288235	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.16)	.	deleterious(0.03)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Glu261Lys,ENST00000559269,;MYO1E,missense_variant,p.Glu840Lys,ENST00000288235,;	2918	75	59	SUCCESS
WHAMM	123720	.	GRCh37	15	83491939	83491939	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1483329888	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	33	253	0	ENST00000286760.4:c.1358A>G	p.Asp453Gly	p.D453G	ENST00000286760	NM_001080435.1	453	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45333.1	1358	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGATAAGA	NONE	.	.	hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000286760	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000286760	Transcript	.	.	ENSG00000156232	30493	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.44)	.	WHAMM_HUMAN	WHAMM	HGNC	.	.	UPI00001C1F94	SNV	WHAMM,missense_variant,p.Asp453Gly,ENST00000286760,;WHAMM,non_coding_transcript_exon_variant,,ENST00000560964,;	1457	253	181	SUCCESS
KIF7	374654	.	GRCh37	15	90189142	90189142	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747191989	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	41	0	ENST00000394412.3:c.1904G>A	p.Arg635Gln	p.R635Q	ENST00000394412	NM_198525.2	635	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS32325.2	1904	MUTECT|MUSE	.	AGGTCCGCCTG	BUFFER|p.R635W|c.1903C>T|3,BUFFER|p.R122W|c.364C>T|3	.	.	hmmpanther:PTHR24115:SF342,hmmpanther:PTHR24115	.	.	ENSP00000377934	.	8/19	.	.	.	.	.	.	.	.	rs747191989	8/19	PASS	ENST00000394412	Transcript	1	.	ENSG00000166813	30497	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.24)	.	KIF7_HUMAN	KIF7	HGNC	B7ZKY4_HUMAN	.	UPI00015F81C7	SNV	KIF7,missense_variant,p.Arg635Gln,ENST00000394412,;KIF7,downstream_gene_variant,,ENST00000445906,;	1981	41	28	SUCCESS
CLEC19A	728276	.	GRCh37	16	19310149	19310149	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	84	0	ENST00000465414.1:c.243C>T	p.Ala81=	p.A81=	ENST00000465414		81	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	.	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCTCCAT	NONE	.	.	Superfamily_domains:SSF56436,Pfam_domain:PF00059,Gene3D:3.10.100.10,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF2,PROSITE_profiles:PS50041	.	.	ENSP00000455948	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000465414	Transcript	.	.	ENSG00000261210	34522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL19A_HUMAN	CLEC19A	HGNC	.	.	UPI0000034E4B	SNV	CLEC19A,synonymous_variant,p.%3D,ENST00000465414,;CLEC19A,synonymous_variant,p.%3D,ENST00000493231,;CLEC19A,3_prime_UTR_variant,,ENST00000476906,;	316	84	78	SUCCESS
SLX4	84464	.	GRCh37	16	3634828	3634828	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748686174	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	77	0	ENST00000294008.3:c.4681A>G	p.Thr1561Ala	p.T1561A	ENST00000294008	NM_032444.2	1561	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10506.2	4681	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGTTATGG	NONE	.	.	hmmpanther:PTHR21541	.	.	ENSP00000294008	.	13/15	.	.	.	.	.	.	.	.	rs748686174	13/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.872)	.	deleterious(0)	.	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,missense_variant,p.Thr1561Ala,ENST00000294008,;RP11-461A8.1,downstream_gene_variant,,ENST00000573982,;	5322	77	61	SUCCESS
HEATR3	55027	.	GRCh37	16	50134209	50134209	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	60	0	ENST00000299192.7:c.1668A>C	p.Arg556Ser	p.R556S	ENST00000299192	NM_182922.2	556	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS10739.1	1668	RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGAGTGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000299192	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,missense_variant,p.Arg556Ser,ENST00000299192,;HEATR3,missense_variant,p.Arg470Ser,ENST00000285767,;RNY4P3,downstream_gene_variant,,ENST00000365254,;RP11-429P3.5,downstream_gene_variant,,ENST00000566770,;	1859	60	53	SUCCESS
CES1P1	51716	.	GRCh37	16	55807490	55807490	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	16	146	0	ENST00000571348.1:n.911C>A		p.*304*	ENST00000571348				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCCTCAGG	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000571348	Transcript	.	.	ENSG00000228695	18546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CES1P1	HGNC	.	.	.	SNV	CES1P1,non_coding_transcript_exon_variant,,ENST00000573705,;CES1P1,non_coding_transcript_exon_variant,,ENST00000571348,;CES1P1,downstream_gene_variant,,ENST00000574030,;CES1P1,intron_variant,,ENST00000421606,;	911	146	139	SUCCESS
PRPF8	10594	.	GRCh37	17	1564062	1564062	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	99	0	ENST00000304992.6:c.4568G>T	p.Arg1523Leu	p.R1523L	ENST00000304992	NM_006445.3	1523	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11010.1	4568	RADIA|MUTECT|MUSE|VARSCANS	.	CTGATCGCTGA	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140,Pfam_domain:PF10596	.	.	ENSP00000460348	.	28/42	.	.	.	.	.	.	.	.	.	28/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,missense_variant,p.Arg167Leu,ENST00000573725,;PRPF8,missense_variant,p.Arg1523Leu,ENST00000572621,;PRPF8,missense_variant,p.Arg1523Leu,ENST00000304992,;PRPF8,non_coding_transcript_exon_variant,,ENST00000573681,;PRPF8,downstream_gene_variant,,ENST00000572445,;	4834	99	94	SUCCESS
TRAPPC8	22878	.	GRCh37	18	29450417	29450417	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	23	226	1	ENST00000283351.4:c.2306T>C	p.Leu769Pro	p.L769P	ENST00000283351	NM_014939.3	769	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11901.1	2306	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAGTAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6	.	.	ENSP00000283351	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000283351	Transcript	.	.	ENSG00000153339	29169	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TPPC8_HUMAN	TRAPPC8	HGNC	J3QQJ5_HUMAN,J3QKL6_HUMAN	.	UPI0000052E22	SNV	TRAPPC8,missense_variant,p.Leu715Pro,ENST00000582539,;TRAPPC8,missense_variant,p.Leu769Pro,ENST00000283351,;TRAPPC8,downstream_gene_variant,,ENST00000577474,;TRAPPC8,downstream_gene_variant,,ENST00000582513,;TRAPPC8,missense_variant,p.Leu769Pro,ENST00000580104,;TRAPPC8,non_coding_transcript_exon_variant,,ENST00000578252,;	2642	227	220	SUCCESS
TDRD12	91646	.	GRCh37	19	33233749	33233749	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775908730	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	33	188	0	ENST00000444215.2:c.383A>G	p.Tyr128Cys	p.Y128C	ENST00000444215		128	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46038.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTACTGCA	NONE	.	.	hmmpanther:PTHR22948:SF3,hmmpanther:PTHR22948,Pfam_domain:PF00567,Superfamily_domains:SSF63748	.	.	ENSP00000390621	.	4/13	.	.	.	.	.	.	.	.	rs775908730	4/13	PASS	ENST00000421545	Transcript	.	.	ENSG00000173809	25044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	TDR12_HUMAN	TDRD12	HGNC	.	.	UPI0000202021	SNV	TDRD12,missense_variant,p.Tyr128Cys,ENST00000444215,;TDRD12,missense_variant,p.Tyr128Cys,ENST00000421545,;	383	188	166	SUCCESS
CYP2A13	1553	.	GRCh37	19	41600227	41600227	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779523596	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	26	190	0	ENST00000330436.3:c.1051T>C	p.Tyr351His	p.Y351H	ENST00000330436	NM_000766.4	351	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS12571.1	1051	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTACACA	NONE	byFrequency	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000332679	.	7/9	.	.	.	.	.	.	.	.	rs779523596	7/9	PASS	ENST00000330436	Transcript	.	.	ENSG00000197838	2608	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CP2AD_HUMAN	CYP2A13	HGNC	.	.	UPI000013E07A	SNV	CYP2A13,missense_variant,p.Tyr351His,ENST00000330436,;	1051	190	172	SUCCESS
AP2A1	160	.	GRCh37	19	50302171	50302171	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	95	0	ENST00000359032.5:c.927C>T	p.Ile309=	p.I309=	ENST00000359032	NM_014203.2	309	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS46148.1	927	RADIA|MUTECT|MUSE	.	GCCATCCTCTT	NONE	.	.	hmmpanther:PTHR22780:SF19,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371	.	.	ENSP00000351926	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000359032	Transcript	.	.	ENSG00000196961	561	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP2A1_HUMAN	AP2A1	HGNC	Q8N9K4_HUMAN	.	UPI0000167B50	SNV	AP2A1,synonymous_variant,p.%3D,ENST00000354293,;AP2A1,synonymous_variant,p.%3D,ENST00000359032,;AP2A1,downstream_gene_variant,,ENST00000600199,;AP2A1,3_prime_UTR_variant,,ENST00000597774,;AP2A1,upstream_gene_variant,,ENST00000600466,;AP2A1,upstream_gene_variant,,ENST00000594838,;AP2A1,upstream_gene_variant,,ENST00000593788,;	927	95	70	SUCCESS
AP2A1	160	.	GRCh37	19	50302173	50302173	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	94	0	ENST00000359032.5:c.929T>G	p.Leu310Arg	p.L310R	ENST00000359032	NM_014203.2	310	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS46148.1	929	RADIA|MUTECT|MUSE	.	CATCCTCTTCG	NONE	.	.	hmmpanther:PTHR22780:SF19,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371	.	.	ENSP00000351926	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000359032	Transcript	.	.	ENSG00000196961	561	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP2A1_HUMAN	AP2A1	HGNC	Q8N9K4_HUMAN	.	UPI0000167B50	SNV	AP2A1,missense_variant,p.Leu310Arg,ENST00000354293,;AP2A1,missense_variant,p.Leu310Arg,ENST00000359032,;AP2A1,downstream_gene_variant,,ENST00000600199,;AP2A1,3_prime_UTR_variant,,ENST00000597774,;AP2A1,upstream_gene_variant,,ENST00000600466,;AP2A1,upstream_gene_variant,,ENST00000594838,;AP2A1,upstream_gene_variant,,ENST00000593788,;	929	94	70	SUCCESS
KLK3	354	.	GRCh37	19	51361569	51361569	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	40	0	ENST00000326003.2:c.491A>G	p.Glu164Gly	p.E164G	ENST00000326003	NM_001030047.1	164	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12807.1	491	RADIA|VARSCANS	.	AGAGGAGTGTA	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24275:SF15,hmmpanther:PTHR24275,PROSITE_profiles:PS50240	.	.	ENSP00000314151	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000326003	Transcript	.	.	ENSG00000142515	6364	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.36)	.	KLK3_HUMAN	KLK3	HGNC	Q6LDS3_HUMAN,Q546G3_HUMAN	.	UPI0000001C9E	SNV	KLK3,missense_variant,p.Glu121Gly,ENST00000597483,;KLK3,missense_variant,p.Glu127Gly,ENST00000597286,;KLK3,missense_variant,p.Glu159Gly,ENST00000598145,;KLK3,missense_variant,p.Glu145Gly,ENST00000601503,;KLK3,missense_variant,p.Glu164Gly,ENST00000360617,;KLK3,missense_variant,p.Glu164Gly,ENST00000326003,;KLK3,missense_variant,p.Glu164Gly,ENST00000593997,;KLK3,missense_variant,p.Glu121Gly,ENST00000595952,;KLK2,upstream_gene_variant,,ENST00000593493,;KLK3,missense_variant,p.Ser123Gly,ENST00000595392,;KLK3,splice_region_variant,,ENST00000601349,;KLK3,splice_region_variant,,ENST00000596185,;KLK3,splice_region_variant,,ENST00000601812,;KLK3,splice_region_variant,,ENST00000422986,;KLK3,non_coding_transcript_exon_variant,,ENST00000596333,;KLK3,downstream_gene_variant,,ENST00000595151,;	532	40	37	SUCCESS
DBT	1629	.	GRCh37	1	100672083	100672083	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150934375	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	83	0	ENST00000370132.4:c.1127G>A	p.Arg376His	p.R376H	ENST00000370132	NM_001918.3	376	cGc/cAc	0	T:0.0005	.	.	.	.	T	R/H	protein_coding	YES	CCDS767.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GGAGGCGGTTC	NONE	byCluster	.	hmmpanther:PTHR23151:SF46,hmmpanther:PTHR23151,Gene3D:3.30.559.10,Pfam_domain:PF00198,Superfamily_domains:SSF52777	.	T:0	ENSP00000359151	.	9/11	.	.	.	.	.	.	.	.	rs150934375	9/11	PASS	ENST00000370132	Transcript	.	.	ENSG00000137992	2698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.981)	.	deleterious(0)	.	ODB2_HUMAN	DBT	HGNC	.	.	UPI000013D0E7	SNV	DBT,missense_variant,p.Arg376His,ENST00000370132,;DBT,downstream_gene_variant,,ENST00000370131,;	1141	83	68	SUCCESS
SEC22B	9554	.	GRCh37	1	145116188	145116188	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs1401121129	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	11	0	ENST00000453618.1:n.1274T>C		p.*425*	ENST00000453618				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	AGCACTGGCTG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000453618	Transcript	.	.	ENSG00000223380	10700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SEC22B	HGNC	.	.	.	SNV	SEC22B,non_coding_transcript_exon_variant,,ENST00000453618,;	1274	11	16	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150531572	150531572	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	36	65	0	ENST00000271643.4:c.2694T>C	p.Pro898=	p.P898=	ENST00000271643	NM_019032.4	898	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS955.1	2694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTGACAT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000271643	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,synonymous_variant,p.%3D,ENST00000271643,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369038,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369039,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;	2930	65	72	SUCCESS
HRNR	388697	.	GRCh37	1	152185637	152185637	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150101773	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	400	41	327	0	ENST00000368801.2:c.8468G>T	p.Ser2823Ile	p.S2823I	ENST00000368801	NM_001009931.2	2823	aGt/aTt	0	T:0	.	.	.	.	A	S/I	protein_coding	YES	CCDS30859.1	8468	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACTTCCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg	.	T:0.0001	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	rs150101773	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Ser2823Ile,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8544	327	441	SUCCESS
FDPS	2224	.	GRCh37	1	155289686	155289686	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	101	145	1	ENST00000356657.6:c.1026A>G	p.Gln342=	p.Q342=	ENST00000356657	NM_001135821.1	342	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS1110.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAACGGGC	NONE	.	.	hmmpanther:PTHR11525:SF0,hmmpanther:PTHR11525,Pfam_domain:PF00348,Gene3D:1.10.600.10,Superfamily_domains:SSF48576	.	.	ENSP00000349078	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000356657	Transcript	.	.	ENSG00000160752	3631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FPPS_HUMAN	FDPS	HGNC	.	.	UPI000006E4F7	SNV	FDPS,synonymous_variant,p.%3D,ENST00000356657,;FDPS,synonymous_variant,p.%3D,ENST00000447866,;FDPS,synonymous_variant,p.%3D,ENST00000368356,;RUSC1,upstream_gene_variant,,ENST00000368352,;RUSC1,upstream_gene_variant,,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;RUSC1,upstream_gene_variant,,ENST00000368347,;RUSC1,upstream_gene_variant,,ENST00000368349,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000443642,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000446880,;RUSC1-AS1,intron_variant,,ENST00000543656,;RUSC1-AS1,downstream_gene_variant,,ENST00000450199,;FDPS,non_coding_transcript_exon_variant,,ENST00000490140,;FDPS,non_coding_transcript_exon_variant,,ENST00000492244,;FDPS,non_coding_transcript_exon_variant,,ENST00000489324,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	1188	146	174	SUCCESS
LY9	4063	.	GRCh37	1	160769681	160769681	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	10	106	0	ENST00000263285.6:c.263C>A	p.Ala88Asp	p.A88D	ENST00000263285		88	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS30916.1	263	MUTECT|MUSE	.	TCTTGCTTTCG	NONE	.	.	hmmpanther:PTHR12080:SF14,hmmpanther:PTHR12080,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000263285	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000263285	Transcript	.	.	ENSG00000122224	6730	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	LY9_HUMAN	LY9	HGNC	.	.	UPI00001416AF	SNV	LY9,missense_variant,p.Ala48Asp,ENST00000368041,;LY9,missense_variant,p.Ala88Asp,ENST00000341032,;LY9,missense_variant,p.Ala88Asp,ENST00000392203,;LY9,missense_variant,p.Ala88Asp,ENST00000368039,;LY9,missense_variant,p.Ala88Asp,ENST00000368037,;LY9,missense_variant,p.Ala88Asp,ENST00000263285,;LY9,5_prime_UTR_variant,,ENST00000368040,;LY9,non_coding_transcript_exon_variant,,ENST00000471816,;LY9,non_coding_transcript_exon_variant,,ENST00000480837,;LY9,downstream_gene_variant,,ENST00000485624,;LY9,3_prime_UTR_variant,,ENST00000474998,;LY9,3_prime_UTR_variant,,ENST00000490902,;	293	106	165	SUCCESS
DARS2	55157	.	GRCh37	1	173825830	173825830	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	53	0	ENST00000361951.4:c.1701G>A	p.Leu567=	p.L567=	ENST00000361951	NM_018122.4	567	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1311.1	1701	MUTECT|MUSE	.	CATCTGCTCCA	NONE	.	.	PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF5,Pfam_domain:PF00152,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00459,Superfamily_domains:SSF55681	.	.	ENSP00000355086	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000361951	Transcript	.	.	ENSG00000117593	25538	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYDM_HUMAN	DARS2	HGNC	Q9H9J7_HUMAN	.	UPI00001C1D5B	SNV	DARS2,synonymous_variant,p.%3D,ENST00000361951,;DARS2,synonymous_variant,p.%3D,ENST00000239457,;DARS2,non_coding_transcript_exon_variant,,ENST00000471476,;DARS2,downstream_gene_variant,,ENST00000460076,;	2428	53	77	SUCCESS
NUAK2	81788	.	GRCh37	1	205290713	205290713	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1286339754	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	52	0	ENST00000367157.3:c.44C>T	p.Ser15Leu	p.S15L	ENST00000367157	NM_030952.1	15	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1453.1	44	MUTECT|MUSE	.	CGGCCGAGGGA	NONE	.	.	hmmpanther:PTHR24343:SF133,hmmpanther:PTHR24343	.	.	ENSP00000356125	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000367157	Transcript	.	.	ENSG00000163545	29558	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.19)	.	NUAK2_HUMAN	NUAK2	HGNC	Q68E04_HUMAN,B4E0Y5_HUMAN	.	UPI0000037D77	SNV	NUAK2,missense_variant,p.Ser15Leu,ENST00000367157,;	171	52	63	SUCCESS
ITPKB	3707	.	GRCh37	1	226895573	226895573	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	20	243	0	ENST00000272117.3:c.1932+27655A>G		p.*644*	ENST00000272117				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1555.1	.	MUTECT|MUSE	.	GGACGTTGCCC	NONE	.	.	.	.	.	ENSP00000411152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,3_prime_UTR_variant,,ENST00000366784,;ITPKB,intron_variant,,ENST00000272117,;ITPKB,intron_variant,,ENST00000429204,;	.	243	296	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232597940	232597940	+	intron_variant	Intron	SNP	G	G	A	rs759410209	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	9	116	0	ENST00000262861.4:c.2821-1033C>T		p.*941*	ENST00000262861	NM_020808.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41474.1	.	MUTECT|MUSE	.	TCACCGAGCAT	NONE	.	.	.	.	.	ENSP00000355589	.	.	.	.	.	.	.	.	.	.	rs759410209	.	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODIFIER	8/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Ser14Leu,ENST00000308942,;SIPA1L2,intron_variant,,ENST00000366630,;SIPA1L2,intron_variant,,ENST00000262861,;	.	116	153	SUCCESS
RYR2	6262	.	GRCh37	1	237893654	237893654	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1558304228	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	82	0	ENST00000366574.2:c.10933G>A	p.Ala3645Thr	p.A3645T	ENST00000366574	NM_001035.2	3645	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS55691.1	10933	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAGCAGTA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	77/105	.	.	.	.	.	.	.	.	COSM1637248	77/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.284)	.	.	1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ala3629Thr,ENST00000542537,;RYR2,missense_variant,p.Ala3645Thr,ENST00000366574,;RYR2,missense_variant,p.Ala3643Thr,ENST00000360064,;RYR2,splice_region_variant,,ENST00000609119,;RYR2,downstream_gene_variant,,ENST00000609253,;	11250	82	123	SUCCESS
WRAP73	49856	.	GRCh37	1	3548777	3548777	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs760941694	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	78	0	ENST00000270708.7:c.1048G>A	p.Asp350Asn	p.D350N	ENST00000270708	NM_017818.3	350	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS48.1	1048	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCGTTCC	NONE	.	.	hmmpanther:PTHR16220:SF0,hmmpanther:PTHR16220,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:0047732	.	.	ENSP00000270708	.	10/12	.	.	.	.	.	.	.	.	rs760941694	10/12	PASS	ENST00000270708	Transcript	.	.	ENSG00000116213	12759	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.298)	.	deleterious(0)	.	WRP73_HUMAN	WRAP73	HGNC	J3KTP2_HUMAN	.	UPI0000138EDF	SNV	WRAP73,missense_variant,p.Asp350Asn,ENST00000378322,;WRAP73,missense_variant,p.Asp350Asn,ENST00000270708,;WRAP73,incomplete_terminal_codon_variant,p.%3D,ENST00000424367,;TPRG1L,downstream_gene_variant,,ENST00000378344,;WRAP73,downstream_gene_variant,,ENST00000419924,;WRAP73,downstream_gene_variant,,ENST00000465916,;TPRG1L,downstream_gene_variant,,ENST00000344579,;WRAP73,non_coding_transcript_exon_variant,,ENST00000471223,;WRAP73,downstream_gene_variant,,ENST00000469643,;WRAP73,downstream_gene_variant,,ENST00000494884,;WRAP73,downstream_gene_variant,,ENST00000497940,;	1122	78	83	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94652058	94652058	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	132	0	ENST00000260526.6:c.1777A>C	p.Thr593Pro	p.T593P	ENST00000260526	NM_004815.3	593	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS748.1	1777	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTTTCTG	NONE	.	.	hmmpanther:PTHR15228:SF7,hmmpanther:PTHR15228	.	.	ENSP00000260526	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	tolerated(0.28)	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,missense_variant,p.Thr593Pro,ENST00000260526,;ARHGAP29,non_coding_transcript_exon_variant,,ENST00000482481,;ARHGAP29,missense_variant,p.Thr593Pro,ENST00000552844,;	1960	132	83	SUCCESS
SNRPB	6628	.	GRCh37	20	2443295	2443295	+	synonymous_variant	Silent	SNP	G	G	C	rs761783476	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	103	0	ENST00000438552.2:c.672C>G	p.Pro224=	p.P224=	ENST00000438552	NM_198216.1	224	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13026.1	672	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10701,hmmpanther:PTHR10701:SF2,PIRSF_domain:PIRSF037187	.	.	ENSP00000412566	.	6/7	.	.	.	.	.	.	.	.	rs761783476	6/7	PASS	ENST00000438552	Transcript	1	.	ENSG00000125835	11153	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RSMB_HUMAN	SNRPB	HGNC	.	.	UPI00001351FF	SNV	SNRPB,synonymous_variant,p.%3D,ENST00000438552,;SNRPB,synonymous_variant,p.%3D,ENST00000339610,;SNRPB,synonymous_variant,p.%3D,ENST00000381342,;SNORD119,downstream_gene_variant,,ENST00000515997,;SNRPB,3_prime_UTR_variant,,ENST00000474384,;RP4-734P14.4,downstream_gene_variant,,ENST00000461548,;	835	103	67	SUCCESS
ABHD12	26090	.	GRCh37	20	25287496	25287496	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749710608	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	90	0	ENST00000339157.5:c.923G>C	p.Ser308Thr	p.S308T	ENST00000339157	NM_001042472.2	308	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS13172.1	923	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTACTT	NONE	byFrequency	.	hmmpanther:PTHR12277:SF47,hmmpanther:PTHR12277,Pfam_domain:PF12695,Superfamily_domains:SSF53474	.	.	ENSP00000365725	.	10/13	.	.	.	.	.	.	.	.	rs749710608	10/13	PASS	ENST00000376542	Transcript	1	.	ENSG00000100997	15868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	tolerated(0.15)	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,missense_variant,p.Ser308Thr,ENST00000339157,;ABHD12,missense_variant,p.Ser151Thr,ENST00000491682,;ABHD12,missense_variant,p.Ser308Thr,ENST00000376542,;ABHD12,missense_variant,p.Ser76Thr,ENST00000576316,;ABHD12,downstream_gene_variant,,ENST00000471287,;ABHD12,downstream_gene_variant,,ENST00000450393,;ABHD12,non_coding_transcript_exon_variant,,ENST00000481556,;	1203	90	62	SUCCESS
WFDC8	90199	.	GRCh37	20	44181869	44181869	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	98	0	ENST00000289953.2:c.492G>A	p.Glu164=	p.E164=	ENST00000289953	NM_130896.2	164	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS13361.1	492	RADIA|MUTECT|MUSE|VARSCANS	.	GGACACTCCTT	NONE	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR10083:SF169,hmmpanther:PTHR10083,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256	.	.	ENSP00000361735	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000357199	Transcript	.	.	ENSG00000158901	16163	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WFDC8_HUMAN	WFDC8	HGNC	.	.	UPI000016059B	SNV	WFDC8,synonymous_variant,p.%3D,ENST00000357199,;WFDC8,synonymous_variant,p.%3D,ENST00000289953,;	571	98	70	SUCCESS
TRAPPC10	7109	.	GRCh37	21	45506772	45506772	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	78	0	ENST00000291574.4:c.2470A>T	p.Ser824Cys	p.S824C	ENST00000291574	NM_003274.4	824	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13704.1	2470	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTAGCAAT	NONE	.	.	hmmpanther:PTHR13251	.	.	ENSP00000291574	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000291574	Transcript	.	.	ENSG00000160218	11868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	TPC10_HUMAN	TRAPPC10	HGNC	Q76NH5_HUMAN	.	UPI0000129E26	SNV	TRAPPC10,missense_variant,p.Ser824Cys,ENST00000291574,;TRAPPC10,upstream_gene_variant,,ENST00000486746,;TRAPPC10,upstream_gene_variant,,ENST00000483973,;TRAPPC10,upstream_gene_variant,,ENST00000465905,;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,downstream_gene_variant,,ENST00000481460,;TRAPPC10,upstream_gene_variant,,ENST00000485621,;TRAPPC10,upstream_gene_variant,,ENST00000469521,;TRAPPC10,downstream_gene_variant,,ENST00000461889,;TRAPPC10,upstream_gene_variant,,ENST00000459741,;	2645	78	70	SUCCESS
RBFOX2	23543	.	GRCh37	22	36164375	36164375	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199852787	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	95	0	ENST00000438146.2:c.685G>A	p.Glu229Lys	p.E229K	ENST00000438146	NM_001082578.1	229	Gag/Aag	0	.	G:0	.	G:0	.	T	E/K	protein_coding	YES	CCDS43013.1	685	RADIA|MUTECT|VARSCANS	.	ATTCTCGAAAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50102,hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF24,Pfam_domain:PF00076,Gene3D:3.30.70.330,PIRSF_domain:PIRSF037932,SMART_domains:SM00360,Superfamily_domains:SSF54928	G:0.001	.	ENSP00000413035	G:0	6/14	.	.	.	.	.	.	.	.	rs199852787,COSM1033789,COSM1593030	6/14	PASS	ENST00000438146	Transcript	.	G:0.0002	ENSG00000100320	9906	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.829)	G:0	.	0,1,1	RFOX2_HUMAN	RBFOX2	HGNC	.	.	UPI00015DF7D4	SNV	RBFOX2,missense_variant,p.Glu158Lys,ENST00000416721,;RBFOX2,missense_variant,p.Glu140Lys,ENST00000262829,;RBFOX2,missense_variant,p.Glu158Lys,ENST00000414461,;RBFOX2,missense_variant,p.Glu181Lys,ENST00000408983,;RBFOX2,missense_variant,p.Glu229Lys,ENST00000438146,;RBFOX2,missense_variant,p.Glu138Lys,ENST00000359369,;RBFOX2,missense_variant,p.Glu11Lys,ENST00000495377,;RBFOX2,missense_variant,p.Glu138Lys,ENST00000473487,;RBFOX2,missense_variant,p.Glu159Lys,ENST00000405409,;RBFOX2,missense_variant,p.Glu139Lys,ENST00000397303,;RBFOX2,missense_variant,p.Glu158Lys,ENST00000449924,;	685	95	66	SUCCESS
XRCC6	2547	.	GRCh37	22	42042966	42042966	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	39	129	0	ENST00000359308.4:c.840T>A	p.Ala280=	p.A280=	ENST00000359308		280	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14021.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTCTCAA	NONE	.	.	hmmpanther:PTHR12604,hmmpanther:PTHR12604:SF2,Pfam_domain:PF02735,TIGRFAM_domain:TIGR00578,Gene3D:1jeyA03,PIRSF_domain:PIRSF003033,Superfamily_domains:SSF100939	.	.	ENSP00000352257	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000359308	Transcript	.	.	ENSG00000196419	4055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRCC6_HUMAN	XRCC6	HGNC	F5H1I8_HUMAN	.	UPI0000000C8F	SNV	XRCC6,synonymous_variant,p.%3D,ENST00000405878,;XRCC6,synonymous_variant,p.%3D,ENST00000405506,;XRCC6,synonymous_variant,p.%3D,ENST00000359308,;XRCC6,synonymous_variant,p.%3D,ENST00000428575,;XRCC6,synonymous_variant,p.%3D,ENST00000402580,;XRCC6,synonymous_variant,p.%3D,ENST00000360079,;Y_RNA,downstream_gene_variant,,ENST00000363462,;	1495	129	133	SUCCESS
RGPD3	653489	.	GRCh37	2	107049725	107049725	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	546	19	715	0	ENST00000409886.3:c.2222A>T	p.Glu741Val	p.E741V	ENST00000409886	NM_001144013.1	741	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46379.1	2222	MUTECT|MUSE	.	CAGACTCCAGG	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000386588	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000409886	Transcript	.	.	ENSG00000153165	32416	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.344)	.	deleterious(0)	.	RGPD3_HUMAN	RGPD3	HGNC	I1Z9D1_HUMAN	.	UPI00006C049F	SNV	RGPD3,missense_variant,p.Glu741Val,ENST00000409886,;RGPD3,missense_variant,p.Glu741Val,ENST00000304514,;	2310	715	565	SUCCESS
IWS1	55677	.	GRCh37	2	128247508	128247508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	286	41	333	0	ENST00000295321.4:c.2059A>T	p.Arg687Trp	p.R687W	ENST00000295321	NM_017969.2	687	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS2146.1	2059	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTAGACC	NONE	.	.	PROSITE_profiles:PS51319,hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908,Pfam_domain:PF08711,Gene3D:1.20.930.10,Superfamily_domains:SSF47676	.	.	ENSP00000295321	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,missense_variant,p.Arg687Trp,ENST00000295321,;IWS1,downstream_gene_variant,,ENST00000455721,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,downstream_gene_variant,,ENST00000598065,;AC010976.2,downstream_gene_variant,,ENST00000595561,;AC010976.2,downstream_gene_variant,,ENST00000454503,;AC010976.2,downstream_gene_variant,,ENST00000596439,;IWS1,upstream_gene_variant,,ENST00000412979,;	2319	333	327	SUCCESS
BAZ2B	29994	.	GRCh37	2	160194151	160194151	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	23	149	0	ENST00000392783.2:c.5587G>C	p.Glu1863Gln	p.E1863Q	ENST00000392783	NM_013450.2	1863	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS2209.2	5587	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTCTAGTG	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144	.	.	ENSP00000376534	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.333)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Glu1829Gln,ENST00000355831,;BAZ2B,missense_variant,p.Glu1827Gln,ENST00000392782,;BAZ2B,missense_variant,p.Glu81Gln,ENST00000426648,;BAZ2B,missense_variant,p.Glu1763Gln,ENST00000343439,;BAZ2B,missense_variant,p.Glu1863Gln,ENST00000392783,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000474437,;BAZ2B,upstream_gene_variant,,ENST00000548440,;	6083	149	148	SUCCESS
PLCD4	84812	.	GRCh37	2	219501200	219501200	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771737211	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	107	0	ENST00000417849.1:c.2189G>A	p.Arg730His	p.R730H	ENST00000417849		730	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS46516.1	2189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGCCACA	NONE	.	.	hmmpanther:PTHR10336:SF31,hmmpanther:PTHR10336,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00390	.	.	ENSP00000388631	.	16/16	.	.	.	.	.	.	.	.	rs771737211	16/16	PASS	ENST00000450993	Transcript	.	.	ENSG00000115556	9062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLCD4_HUMAN	PLCD4	HGNC	C9JAE4_HUMAN	.	UPI0000044279	SNV	PLCD4,missense_variant,p.Arg730His,ENST00000450993,;PLCD4,missense_variant,p.Arg730His,ENST00000417849,;PLCD4,missense_variant,p.Arg79His,ENST00000457773,;PLCD4,missense_variant,p.Arg762His,ENST00000432688,;ZNF142,downstream_gene_variant,,ENST00000411696,;ZNF142,downstream_gene_variant,,ENST00000449707,;RP11-548H3.1,upstream_gene_variant,,ENST00000607946,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;ZNF142,downstream_gene_variant,,ENST00000450765,;PLCD4,downstream_gene_variant,,ENST00000484718,;PLCD4,downstream_gene_variant,,ENST00000497482,;ZNF142,downstream_gene_variant,,ENST00000433921,;PLCD4,downstream_gene_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000458239,;	2528	107	85	SUCCESS
MSH2	4436	.	GRCh37	2	47707967	47707993	+	inframe_deletion	In_Frame_Del	DEL	ATATCATGGAACCAGCAGCAAAGAAGT	ATATCATGGAACCAGCAGCAAAGAAGT	-	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	ATATCATGGAACCAGCAGCAAAGAAGT	ATATCATGGAACCAGCAGCAAAGAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	175	0	ENST00000233146.2:c.2591_2617del	p.Asp864_Cys873delinsGly	p.D864_C873delinsG	ENST00000233146	NM_000251.2	864	gATATCATGGAACCAGCAGCAAAGAAGTgc/ggc	0	.	.	.	.	.	-	DIMEPAAKKC/G	protein_coding	YES	CCDS1834.1	2591-2617	INDELOCATOR*|VARSCANI*|PINDEL	.	GATATGATATCATGGAACCAGCAGCAAAGAAGTGCTAT	NONE	.	.	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF35,PIRSF_domain:PIRSF005813	.	.	ENSP00000233146	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000233146	Transcript	.	.	ENSG00000095002	7325	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSH2_HUMAN	MSH2	HGNC	Q53RU4_HUMAN,C9J809_HUMAN,B4DL39_HUMAN	.	UPI00000405F6	deletion	MSH2,inframe_deletion,p.Asp864_Cys873delinsGly,ENST00000406134,;MSH2,inframe_deletion,p.Asp864_Cys873delinsGly,ENST00000233146,;MSH2,inframe_deletion,p.Asp798_Cys807delinsGly,ENST00000543555,;MSH2,non_coding_transcript_exon_variant,,ENST00000461394,;	2814-2840	175	108	SUCCESS
INO80B	83444	.	GRCh37	2	74683301	74683301	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756911036	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	17	218	0	ENST00000233331.7:c.442G>A	p.Glu148Lys	p.E148K	ENST00000233331	NM_031288.3	148	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1942.2	442	MUTECT|MUSE|VARSCANS	.	AAGAGGAGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21561:SF12,hmmpanther:PTHR21561	.	.	ENSP00000233331	.	4/5	.	.	.	.	.	.	.	.	rs756911036	4/5	PASS	ENST00000233331	Transcript	.	.	ENSG00000115274	13324	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.525)	.	deleterious(0)	.	IN80B_HUMAN	INO80B	HGNC	B4DJ22_HUMAN	.	UPI0000456DE1	SNV	INO80B,missense_variant,p.Glu153Lys,ENST00000409493,;INO80B,missense_variant,p.Glu133Lys,ENST00000431187,;INO80B,missense_variant,p.Glu148Lys,ENST00000233331,;INO80B,missense_variant,p.Glu148Lys,ENST00000409917,;WBP1,upstream_gene_variant,,ENST00000393972,;MOGS,downstream_gene_variant,,ENST00000233616,;WBP1,upstream_gene_variant,,ENST00000428943,;MOGS,downstream_gene_variant,,ENST00000452063,;WBP1,upstream_gene_variant,,ENST00000409737,;MOGS,downstream_gene_variant,,ENST00000409065,;WBP1,upstream_gene_variant,,ENST00000233615,;INO80B,non_coding_transcript_exon_variant,,ENST00000494986,;INO80B,non_coding_transcript_exon_variant,,ENST00000469849,;WBP1,upstream_gene_variant,,ENST00000474185,;WBP1,upstream_gene_variant,,ENST00000494741,;WBP1,upstream_gene_variant,,ENST00000464774,;WBP1,upstream_gene_variant,,ENST00000466835,;WBP1,upstream_gene_variant,,ENST00000470536,;INO80B,missense_variant,p.Glu148Lys,ENST00000452361,;INO80B,missense_variant,p.Glu148Lys,ENST00000441673,;INO80B,3_prime_UTR_variant,,ENST00000455562,;INO80B,non_coding_transcript_exon_variant,,ENST00000473618,;INO80B,non_coding_transcript_exon_variant,,ENST00000471577,;WBP1,upstream_gene_variant,,ENST00000490120,;WBP1,upstream_gene_variant,,ENST00000492047,;WBP1,upstream_gene_variant,,ENST00000484744,;WBP1,upstream_gene_variant,,ENST00000473467,;MOGS,downstream_gene_variant,,ENST00000462189,;WBP1,upstream_gene_variant,,ENST00000466303,;	536	218	204	SUCCESS
KDM3A	55818	.	GRCh37	2	86691306	86691306	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200618359	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	48	136	0	ENST00000312912.5:c.974C>T	p.Ser325Phe	p.S325F	ENST00000312912	NM_018433.5	325	tCt/tTt	0	.	T:0	.	T:0	.	T	S/F	protein_coding	YES	CCDS1990.1	974	MUTECT|MUSE|VARSCANS	.	CAACTCTCCAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7	T:0.001	.	ENSP00000386660	T:0	10/27	.	.	.	.	.	.	.	.	rs200618359	10/27	PASS	ENST00000409556	Transcript	.	T:0.0002	ENSG00000115548	20815	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.203)	T:0	deleterious_low_confidence(0)	.	KDM3A_HUMAN	KDM3A	HGNC	C9JC73_HUMAN,C9J7Q7_HUMAN	.	UPI0000161FAE	SNV	KDM3A,missense_variant,p.Ser273Phe,ENST00000542128,;KDM3A,missense_variant,p.Ser325Phe,ENST00000409064,;KDM3A,missense_variant,p.Ser325Phe,ENST00000409556,;KDM3A,missense_variant,p.Ser325Phe,ENST00000312912,;KDM3A,upstream_gene_variant,,ENST00000485171,;KDM3A,missense_variant,p.Ser325Phe,ENST00000441719,;KDM3A,non_coding_transcript_exon_variant,,ENST00000488971,;	1339	136	162	SUCCESS
PLXND1	23129	.	GRCh37	3	129286593	129286593	+	synonymous_variant	Silent	SNP	C	C	A	rs771157211	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	58	0	ENST00000324093.4:c.3921G>T	p.Thr1307=	p.T1307=	ENST00000324093	NM_015103.2	1307	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33854.1	3921	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGTCTT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7	.	.	ENSP00000317128	.	21/36	.	.	.	.	.	.	.	.	rs771157211	21/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,synonymous_variant,p.%3D,ENST00000324093,;PLXND1,synonymous_variant,p.%3D,ENST00000393239,;PLXND1,upstream_gene_variant,,ENST00000512744,;PLXND1,downstream_gene_variant,,ENST00000514990,;PLXND1,upstream_gene_variant,,ENST00000503166,;PLXND1,upstream_gene_variant,,ENST00000504979,;PLXND1,downstream_gene_variant,,ENST00000515191,;PLXND1,downstream_gene_variant,,ENST00000504767,;PLXND1,downstream_gene_variant,,ENST00000511018,;	4100	58	28	SUCCESS
PIK3R4	30849	.	GRCh37	3	130447469	130447469	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	23	258	0	ENST00000356763.3:c.1645G>C	p.Glu549Gln	p.E549Q	ENST00000356763	NM_014602.2	549	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS3067.1	1645	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCAGGGT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR17583	.	.	ENSP00000349205	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000356763	Transcript	.	.	ENSG00000196455	8982	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.488)	.	tolerated(0.75)	.	PI3R4_HUMAN	PIK3R4	HGNC	D6RJ98_HUMAN,D6RBB7_HUMAN,D6RAC3_HUMAN	.	UPI0000071EF3	SNV	PIK3R4,missense_variant,p.Glu549Gln,ENST00000356763,;PIK3R4,upstream_gene_variant,,ENST00000512430,;PIK3R4,upstream_gene_variant,,ENST00000507330,;PIK3R4,upstream_gene_variant,,ENST00000508273,;PIK3R4,intron_variant,,ENST00000504834,;	2203	259	193	SUCCESS
CNTN6	27255	.	GRCh37	3	1371498	1371498	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142802849	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	66	319	1	ENST00000350110.2:c.1243G>A	p.Val415Ile	p.V415I	ENST00000350110	NM_014461.2	415	Gtt/Att	0	A:0.0002	A:0.0008	.	A:0	.	A	V/I	protein_coding	YES	CCDS2557.1	1243	RADIA|SOMATICSNIPER|VARSCANS	.	GTCCAGTTAAA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679	A:0	A:0	ENSP00000407822	A:0	11/23	.	.	.	.	.	.	.	.	rs142802849	11/23	PASS	ENST00000446702	Transcript	.	A:0.0002	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	A:0	tolerated(0.17)	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Val343Ile,ENST00000539053,;CNTN6,missense_variant,p.Val415Ile,ENST00000446702,;CNTN6,missense_variant,p.Val415Ile,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	1870	320	261	SUCCESS
UGT8	7368	.	GRCh37	4	115597188	115597188	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749224062	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	81	293	1	ENST00000310836.6:c.1370C>T	p.Ala457Val	p.A457V	ENST00000310836	NM_001128174.1	457	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3705.1	1370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCCATC	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF169	.	.	ENSP00000311648	.	6/6	.	.	.	.	.	.	.	.	rs749224062	6/6	PASS	ENST00000310836	Transcript	.	.	ENSG00000174607	12555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CGT_HUMAN	UGT8	HGNC	D6RFW2_HUMAN	.	UPI000013F094	SNV	UGT8,missense_variant,p.Ala457Val,ENST00000310836,;UGT8,missense_variant,p.Ala457Val,ENST00000394511,;	1892	294	299	SUCCESS
USP38	84640	.	GRCh37	4	144107245	144107245	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	116	0	ENST00000307017.4:c.642G>A	p.Leu214=	p.L214=	ENST00000307017	NM_032557.5	214	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3758.1	642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGCCTTC	NONE	.	.	hmmpanther:PTHR24006:SF386,hmmpanther:PTHR24006	.	.	ENSP00000303434	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000307017	Transcript	.	.	ENSG00000170185	20067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP38_HUMAN	USP38	HGNC	B3KSB9_HUMAN	.	UPI0000047AF9	SNV	USP38,synonymous_variant,p.%3D,ENST00000510377,;USP38,synonymous_variant,p.%3D,ENST00000307017,;RP11-284M14.1,upstream_gene_variant,,ENST00000507486,;RP11-284M14.1,upstream_gene_variant,,ENST00000507826,;USP38,synonymous_variant,p.%3D,ENST00000511739,;	1148	116	102	SUCCESS
NR3C2	4306	.	GRCh37	4	149357349	149357349	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs374672844	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	58	0	ENST00000344721.4:c.664A>T	p.Ser222Cys	p.S222C	ENST00000344721		222	Agt/Tgt	0	A:0	.	.	.	.	A	S/C	protein_coding	YES	CCDS3772.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTGCCAA	NONE	byCluster	.	hmmpanther:PTHR24084:SF22,hmmpanther:PTHR24084	.	A:0.0001	ENSP00000350815	.	2/9	.	.	.	.	.	.	.	.	rs374672844	2/9	PASS	ENST00000358102	Transcript	1	.	ENSG00000151623	7979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated_low_confidence(0.32)	.	.	NR3C2	HGNC	Q4W5E8_HUMAN,B0ZBF6_HUMAN	.	UPI000013DC6D	SNV	NR3C2,missense_variant,p.Ser222Cys,ENST00000512865,;NR3C2,missense_variant,p.Ser222Cys,ENST00000358102,;NR3C2,missense_variant,p.Ser222Cys,ENST00000344721,;NR3C2,missense_variant,p.Ser222Cys,ENST00000355292,;NR3C2,missense_variant,p.Ser222Cys,ENST00000511528,;NR3C2,missense_variant,p.Ser222Cys,ENST00000342437,;	1027	58	59	SUCCESS
AC108142.1	0	.	GRCh37	4	183063609	183063609	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	16	118	0	ENST00000315302.2:n.1454T>C		p.*485*	ENST00000315302				0	.	.	.	.	.	G	.	antisense	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACTAACATAA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000315302	Transcript	.	.	ENSG00000177822	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC108142.1	Clone_based_vega_gene	.	.	.	SNV	TENM3,upstream_gene_variant,,ENST00000512480,;AC108142.1,non_coding_transcript_exon_variant,,ENST00000505873,;AC108142.1,non_coding_transcript_exon_variant,,ENST00000315302,;AC108142.1,intron_variant,,ENST00000509012,;AC108142.1,intron_variant,,ENST00000513752,;RP11-402C9.1,upstream_gene_variant,,ENST00000505389,;AC108142.1,downstream_gene_variant,,ENST00000508968,;AC108142.1,downstream_gene_variant,,ENST00000511052,;TENM3,upstream_gene_variant,,ENST00000513201,;	1454	118	119	SUCCESS
ALB	213	.	GRCh37	4	74283866	74283866	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	85	0	ENST00000295897.4:c.1490T>A	p.Val497Asp	p.V497D	ENST00000295897	NM_000477.5	497	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS3555.1	1490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTCACCA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Val497Asp,ENST00000509063,;ALB,missense_variant,p.Val342Asp,ENST00000511370,;ALB,missense_variant,p.Val305Asp,ENST00000415165,;ALB,missense_variant,p.Val497Asp,ENST00000295897,;ALB,missense_variant,p.Val347Asp,ENST00000503124,;ALB,missense_variant,p.Val382Asp,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1579	85	81	SUCCESS
PRR16	51334	.	GRCh37	5	120021723	120021723	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765092787	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	68	0	ENST00000407149.2:c.234C>A	p.Asp78Glu	p.D78E	ENST00000407149		78	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4127.1	165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGACACGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	rs765092787	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,missense_variant,p.Asp78Glu,ENST00000407149,;PRR16,missense_variant,p.Asp8Glu,ENST00000446965,;PRR16,missense_variant,p.Asp8Glu,ENST00000505123,;PRR16,missense_variant,p.Asp8Glu,ENST00000509923,;PRR16,missense_variant,p.Asp55Glu,ENST00000379551,;	522	68	76	SUCCESS
ANKHD1	54882	.	GRCh37	5	139876827	139876827	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	26	0	ENST00000360839.2:c.2968C>T	p.Gln990Ter	p.Q990*	ENST00000360839	NM_017747.2	990	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS4224.1	2968	MUTECT|MUSE	.	CAGCTCAGACG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR23206	.	.	ENSP00000297183	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,stop_gained,p.Gln990Ter,ENST00000360839,;ANKHD1,stop_gained,p.Gln1009Ter,ENST00000421134,;ANKHD1,stop_gained,p.Gln990Ter,ENST00000297183,;ANKHD1-EIF4EBP3,stop_gained,p.Gln990Ter,ENST00000532219,;ANKHD1,intron_variant,,ENST00000412116,;ANKHD1,intron_variant,,ENST00000246149,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000462121,;ANKHD1,downstream_gene_variant,,ENST00000506755,;	3092	26	40	SUCCESS
FCHSD1	89848	.	GRCh37	5	141028756	141028756	+	synonymous_variant	Silent	SNP	C	C	T	rs370499796	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	65	0	ENST00000435817.2:c.495G>A	p.Ala165=	p.A165=	ENST00000435817	NM_033449.2	165	gcG/gcA	0	T:0	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS47295.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCGCCTT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF103657,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735	T:0	T:0.0006	ENSP00000399259	T:0.002	6/20	.	.	.	.	.	.	.	.	rs370499796	6/20	common_in_exac	ENST00000435817	Transcript	.	T:0.0004	ENSG00000197948	25463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	FCSD1_HUMAN	FCHSD1	HGNC	.	.	UPI000000D903	SNV	FCHSD1,synonymous_variant,p.%3D,ENST00000522783,;FCHSD1,synonymous_variant,p.%3D,ENST00000435817,;FCHSD1,synonymous_variant,p.%3D,ENST00000519800,;FCHSD1,synonymous_variant,p.%3D,ENST00000522126,;ARAP3,downstream_gene_variant,,ENST00000508305,;ARAP3,downstream_gene_variant,,ENST00000239440,;FCHSD1,upstream_gene_variant,,ENST00000518499,;ARAP3,downstream_gene_variant,,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000522763,;FCHSD1,upstream_gene_variant,,ENST00000523856,;FCHSD1,upstream_gene_variant,,ENST00000522386,;ARAP3,downstream_gene_variant,,ENST00000512390,;	546	65	77	SUCCESS
GFOD1	54438	.	GRCh37	6	13365402	13365402	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	36	0	ENST00000379287.3:c.746T>C	p.Val249Ala	p.V249A	ENST00000379287	NM_018988.3	249	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS4524.1	746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGACATCC	NONE	.	.	hmmpanther:PTHR22604:SF100,hmmpanther:PTHR22604,Gene3D:3.30.360.10,Superfamily_domains:SSF55347	.	.	ENSP00000368589	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379287	Transcript	.	.	ENSG00000145990	21096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	deleterious(0)	.	GFOD1_HUMAN	GFOD1	HGNC	.	.	UPI0000072450	SNV	GFOD1,missense_variant,p.Val249Ala,ENST00000379287,;GFOD1,missense_variant,p.Val146Ala,ENST00000379284,;	1411	36	34	SUCCESS
C6orf62	81688	.	GRCh37	6	24714631	24714631	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	169	0	ENST00000378119.4:c.344T>G	p.Leu115Arg	p.L115R	ENST00000378119	NM_030939.4	115	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS4559.1	344	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAAGAATG	NONE	.	.	Pfam_domain:PF15130	.	.	ENSP00000367359	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000378119	Transcript	.	.	ENSG00000112308	20998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CF062_HUMAN	C6orf62	HGNC	B4DWX7_HUMAN	.	UPI000000DC64	SNV	C6orf62,missense_variant,p.Leu115Arg,ENST00000378119,;C6orf62,missense_variant,p.Leu86Arg,ENST00000378102,;C6orf62,missense_variant,p.Leu57Arg,ENST00000540769,;	2512	169	117	SUCCESS
LRFN2	57497	.	GRCh37	6	40400289	40400289	+	synonymous_variant	Silent	SNP	G	G	A	rs756661889	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	92	0	ENST00000338305.6:c.564C>T	p.Ile188=	p.I188=	ENST00000338305	NM_020737.1	188	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34443.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCGATGTG	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25,PROSITE_profiles:PS51450	.	.	ENSP00000345985	.	2/3	.	.	.	.	.	.	.	.	rs756661889	2/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,synonymous_variant,p.%3D,ENST00000338305,;	1107	92	59	SUCCESS
SSPO	0	.	GRCh37	7	149504027	149504027	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	42	0	ENST00000378016.2:n.8851G>T		p.*2951*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TGCACGGGCAG	NONE	.	.	.	.	.	.	.	60/109	.	.	.	.	.	.	.	.	.	60/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,downstream_gene_variant,,ENST00000484709,;SSPO,upstream_gene_variant,,ENST00000481772,;	8851	42	46	SUCCESS
PRKAG2	51422	.	GRCh37	7	151262925	151262925	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	115	337	1	ENST00000287878.4:c.1280A>G	p.Glu427Gly	p.E427G	ENST00000287878	NM_016203.3	427	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5928.1	1280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTCATCC	NONE	.	.	hmmpanther:PTHR13780:SF26,hmmpanther:PTHR13780,Superfamily_domains:SSF54631	.	.	ENSP00000287878	.	12/16	.	.	.	.	.	.	.	.	COSM3636403,COSM3636404	12/16	PASS	ENST00000287878	Transcript	.	.	ENSG00000106617	9386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.313)	.	deleterious(0.01)	1,1	AAKG2_HUMAN	PRKAG2	HGNC	C9JUG1_HUMAN	.	UPI00001250B5	SNV	PRKAG2,missense_variant,p.Glu427Gly,ENST00000287878,;PRKAG2,missense_variant,p.Glu302Gly,ENST00000433631,;PRKAG2,missense_variant,p.Glu383Gly,ENST00000392801,;PRKAG2,missense_variant,p.Glu186Gly,ENST00000418337,;PRKAG2,missense_variant,p.Glu303Gly,ENST00000492843,;PRKAG2,downstream_gene_variant,,ENST00000476632,;PRKAG2,3_prime_UTR_variant,,ENST00000478989,;PRKAG2,downstream_gene_variant,,ENST00000493872,;PRKAG2,downstream_gene_variant,,ENST00000488258,;PRKAG2,upstream_gene_variant,,ENST00000479461,;PRKAG2,upstream_gene_variant,,ENST00000485183,;	1785	338	323	SUCCESS
COBL	23242	.	GRCh37	7	51095517	51095517	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	91	362	0	ENST00000265136.7:c.3276G>A	p.Lys1092=	p.K1092=	ENST00000265136	NM_015198.3	1092	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS34637.1	3276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCTTCGG	NONE	.	.	hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	.	.	ENSP00000265136	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,synonymous_variant,p.%3D,ENST00000431948,;COBL,synonymous_variant,p.%3D,ENST00000265136,;COBL,synonymous_variant,p.%3D,ENST00000395542,;COBL,synonymous_variant,p.%3D,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;RP4-724E13.2,downstream_gene_variant,,ENST00000582616,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	3442	362	267	SUCCESS
COL28A1	340267	.	GRCh37	7	7571282	7571282	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	103	0	ENST00000399429.3:c.378A>T	p.Leu126Phe	p.L126F	ENST00000399429	NM_001037763.2	126	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS43553.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATTAAATT	NONE	.	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000382356	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.92)	.	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,missense_variant,p.Leu126Phe,ENST00000399429,;	519	103	146	SUCCESS
PCLO	27445	.	GRCh37	7	82595462	82595462	+	synonymous_variant	Silent	SNP	G	G	A	rs769420056	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	448	271	716	1	ENST00000333891.9:c.3642C>T	p.Leu1214=	p.L1214=	ENST00000333891	NM_033026.5	1214	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47630.1	3642	RADIA|VARSCANS	.	TCAGGGAGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	4/25	.	.	.	.	.	.	.	.	rs769420056,COSM3703289,COSM3703290,COSM3703291	4/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	.	.	.	0,1,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,downstream_gene_variant,,ENST00000461143,;	3980	717	719	SUCCESS
PTCD1	26024	.	GRCh37	7	99030913	99030913	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	71	0	ENST00000292478.4:c.582C>G	p.Asn194Lys	p.N194K	ENST00000292478	NM_015545.3	194	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS56496.1	729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGGTTGAA	NONE	.	.	PROSITE_profiles:PS51375,hmmpanther:PTHR24014:SF5,hmmpanther:PTHR24014,Pfam_domain:PF13041,TIGRFAM_domain:TIGR00756	.	.	ENSP00000400168	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000413834	Transcript	.	.	ENSG00000248919	38844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.5)	.	.	ATP5J2-PTCD1	HGNC	G3V325_HUMAN,C9JWL7_HUMAN,C9JQN9_HUMAN,C9JGL8_HUMAN,C9JBD7_HUMAN,A4D273_HUMAN	.	UPI000198CE57	SNV	ATP5J2-PTCD1,missense_variant,p.Asn243Lys,ENST00000413834,;PTCD1,missense_variant,p.Asn194Lys,ENST00000292478,;PTCD1,missense_variant,p.Asn243Lys,ENST00000555673,;PTCD1,downstream_gene_variant,,ENST00000430029,;PTCD1,downstream_gene_variant,,ENST00000430982,;PTCD1,downstream_gene_variant,,ENST00000419981,;PTCD1,non_coding_transcript_exon_variant,,ENST00000485746,;ATP5J2-PTCD1,downstream_gene_variant,,ENST00000437572,;ATP5J2-PTCD1,downstream_gene_variant,,ENST00000451138,;	752	71	66	SUCCESS
UBR5	51366	.	GRCh37	8	103269936	103269936	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	10	49	0	ENST00000520539.1:c.8111C>T	p.Ala2704Val	p.A2704V	ENST00000520539	NM_015902.5	2704	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34933.1	8111	MUTECT|MUSE|VARSCANS	.	TCTCAGCATTT	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000429084	.	58/59	.	.	.	.	.	.	.	.	.	58/59	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0.03)	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,missense_variant,p.Ala2704Val,ENST00000520539,;UBR5,missense_variant,p.Ala2703Val,ENST00000220959,;UBR5,missense_variant,p.Ala2697Val,ENST00000521922,;UBR5,missense_variant,p.Ala432Val,ENST00000518205,;KB-431C1.5,non_coding_transcript_exon_variant,,ENST00000606361,;KB-431C1.4,downstream_gene_variant,,ENST00000499653,;UBR5,non_coding_transcript_exon_variant,,ENST00000517465,;	8718	49	122	SUCCESS
HAS2	3037	.	GRCh37	8	122641077	122641077	+	synonymous_variant	Silent	SNP	C	C	T	rs1251869360	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	142	122	0	ENST00000303924.4:c.504G>A	p.Ser168=	p.S168=	ENST00000303924	NM_005328.2	168	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6335.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCGAGCT	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Gene3D:3.90.550.10	.	.	ENSP00000306991	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000303924	Transcript	.	.	ENSG00000170961	4819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYAS2_HUMAN	HAS2	HGNC	.	.	UPI000012C0A9	SNV	HAS2,synonymous_variant,p.%3D,ENST00000303924,;	1042	122	253	SUCCESS
TATDN1	83940	.	GRCh37	8	125551301	125551301	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs778161404	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	36	0	ENST00000276692.6:c.-14C>A		p.*5*	ENST00000276692	NM_032026.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGGACCT	NONE	byFrequency	.	.	.	.	ENSP00000276692	.	1/12	.	.	.	.	.	.	.	.	rs778161404	1/12	PASS	ENST00000276692	Transcript	.	.	ENSG00000147687	24220	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TATD1_HUMAN	TATDN1	HGNC	E5RK70_HUMAN	.	UPI000006F5CF	SNV	TATDN1,5_prime_UTR_variant,,ENST00000517678,;TATDN1,5_prime_UTR_variant,,ENST00000605953,;TATDN1,5_prime_UTR_variant,,ENST00000522810,;TATDN1,5_prime_UTR_variant,,ENST00000276692,;TATDN1,5_prime_UTR_variant,,ENST00000519548,;TATDN1,5_prime_UTR_variant,,ENST00000523152,;NDUFB9,upstream_gene_variant,,ENST00000522532,;TATDN1,upstream_gene_variant,,ENST00000519232,;NDUFB9,upstream_gene_variant,,ENST00000518008,;TATDN1,upstream_gene_variant,,ENST00000523888,;NDUFB9,upstream_gene_variant,,ENST00000517367,;NDUFB9,upstream_gene_variant,,ENST00000276689,;TATDN1,upstream_gene_variant,,ENST00000521546,;TATDN1,5_prime_UTR_variant,,ENST00000523214,;TATDN1,5_prime_UTR_variant,,ENST00000520938,;TATDN1,5_prime_UTR_variant,,ENST00000522927,;TATDN1,5_prime_UTR_variant,,ENST00000519776,;TATDN1,5_prime_UTR_variant,,ENST00000520321,;TATDN1,5_prime_UTR_variant,,ENST00000522310,;TATDN1,non_coding_transcript_exon_variant,,ENST00000522280,;NDUFB9,upstream_gene_variant,,ENST00000518657,;	25	36	47	SUCCESS
ABCA2	20	.	GRCh37	9	139917374	139917374	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	100	0	ENST00000341511.6:c.275+19C>T		p.*92*	ENST00000341511	NM_212533.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43909.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGAGGGGCG	NONE	.	.	.	.	.	ENSP00000344155	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODIFIER	4/48	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,intron_variant,,ENST00000371605,;ABCA2,intron_variant,,ENST00000341511,;ABCA2,intron_variant,,ENST00000265662,;C9orf139,upstream_gene_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000470535,;ABCA2,non_coding_transcript_exon_variant,,ENST00000492260,;ABCA2,intron_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000466707,;ABCA2,upstream_gene_variant,,ENST00000467624,;ABCA2,intron_variant,,ENST00000476211,;ABCA2,intron_variant,,ENST00000459850,;ABCA2,intron_variant,,ENST00000464876,;ABCA2,intron_variant,,ENST00000494046,;ABCA2,intron_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000479446,;ABCA2,upstream_gene_variant,,ENST00000488535,;ABCA2,downstream_gene_variant,,ENST00000425423,;	.	100	73	SUCCESS
MMGT1	93380	.	GRCh37	X	135049605	135049605	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	81	177	0	ENST00000305963.2:c.180A>C	p.Ile60=	p.I60=	ENST00000305963	NM_173470.1	60	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS14653.1	180	RADIA|MUTECT|MUSE	.	TGAACTATACC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21181,hmmpanther:PTHR21181:SF15,Pfam_domain:PF10270	.	.	ENSP00000306220	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000305963	Transcript	.	.	ENSG00000169446	28100	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MMGT1_HUMAN	MMGT1	HGNC	.	.	UPI000006D414	SNV	MMGT1,synonymous_variant,p.%3D,ENST00000433339,;MMGT1,synonymous_variant,p.%3D,ENST00000305963,;	568	177	171	SUCCESS
MMGT1	93380	.	GRCh37	X	135049612	135049612	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs199809391	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	75	166	0	ENST00000305963.2:c.173A>G	p.Tyr58Cys	p.Y58C	ENST00000305963	NM_173470.1	58	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14653.1	173	RADIA|MUTECT|MUSE	.	TACCGTAACAG	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21181,hmmpanther:PTHR21181:SF15,Pfam_domain:PF10270	.	.	ENSP00000306220	.	3/4	.	.	.	.	.	.	.	.	rs199809391	3/4	PASS	ENST00000305963	Transcript	.	.	ENSG00000169446	28100	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	MMGT1_HUMAN	MMGT1	HGNC	.	.	UPI000006D414	SNV	MMGT1,missense_variant,p.Tyr123Cys,ENST00000433339,;MMGT1,missense_variant,p.Tyr58Cys,ENST00000305963,;	561	166	161	SUCCESS
PCDH19	57526	.	GRCh37	X	99662112	99662112	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	89	0	ENST00000373034.4:c.1484C>T	p.Ser495Leu	p.S495L	ENST00000373034	NM_001184880.1	495	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS55462.1	1484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGACGGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000362125	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373034	Transcript	.	.	ENSG00000165194	14270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0.01)	.	PCD19_HUMAN	PCDH19	HGNC	.	.	UPI00001D7BCD	SNV	PCDH19,missense_variant,p.Ser495Leu,ENST00000420881,;PCDH19,missense_variant,p.Ser495Leu,ENST00000255531,;PCDH19,missense_variant,p.Ser495Leu,ENST00000373034,;	3160	89	82	SUCCESS
PAX2	5076	.	GRCh37	10	102505938	102505938	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	42	45	0	ENST00000428433.1:c.-80T>G		p.*27*	ENST00000428433	NM_003987.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53569.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTTTTCTC	NONE	.	.	.	.	.	ENSP00000396259	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000428433	Transcript	1	.	ENSG00000075891	8616	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAX2_HUMAN	PAX2	HGNC	Q5SZP1_HUMAN	.	UPI00001AEA24	SNV	PAX2,5_prime_UTR_variant,,ENST00000361791,;PAX2,5_prime_UTR_variant,,ENST00000355243,;PAX2,5_prime_UTR_variant,,ENST00000428433,;PAX2,5_prime_UTR_variant,,ENST00000370296,;PAX2,upstream_gene_variant,,ENST00000554172,;PAX2,upstream_gene_variant,,ENST00000427256,;PAX2,upstream_gene_variant,,ENST00000556085,;PAX2,intron_variant,,ENST00000553492,;PAX2,5_prime_UTR_variant,,ENST00000554363,;PAX2,upstream_gene_variant,,ENST00000483202,;	471	45	74	SUCCESS
ITPRIP	85450	.	GRCh37	10	106075119	106075119	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748754399	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	38	65	0	ENST00000278071.2:c.691C>T	p.Arg231Cys	p.R231C	ENST00000278071	NM_033397.3	231	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS7557.1	691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGCCGG	NONE	.	.	hmmpanther:PTHR10656:SF8,hmmpanther:PTHR10656	.	.	ENSP00000278071	.	3/3	.	.	.	.	.	.	.	.	rs748754399	3/3	PASS	ENST00000278071	Transcript	.	.	ENSG00000148841	29370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.368)	.	deleterious(0.05)	.	IPRI_HUMAN	ITPRIP	HGNC	.	.	UPI0000074521	SNV	ITPRIP,missense_variant,p.Arg231Cys,ENST00000337478,;ITPRIP,missense_variant,p.Arg231Cys,ENST00000358187,;ITPRIP,missense_variant,p.Arg231Cys,ENST00000278071,;ITPRIP,downstream_gene_variant,,ENST00000458723,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;	1144	65	72	SUCCESS
ITPRIP	85450	.	GRCh37	10	106075611	106075611	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	88	0	ENST00000278071.2:c.199G>C	p.Glu67Gln	p.E67Q	ENST00000278071	NM_033397.3	67	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS7557.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCCTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10656:SF8,hmmpanther:PTHR10656	.	.	ENSP00000278071	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000278071	Transcript	.	.	ENSG00000148841	29370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.04)	.	IPRI_HUMAN	ITPRIP	HGNC	.	.	UPI0000074521	SNV	ITPRIP,missense_variant,p.Glu67Gln,ENST00000337478,;ITPRIP,missense_variant,p.Glu67Gln,ENST00000358187,;ITPRIP,missense_variant,p.Glu67Gln,ENST00000458723,;ITPRIP,missense_variant,p.Glu67Gln,ENST00000278071,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;	652	88	64	SUCCESS
RBM20	282996	.	GRCh37	10	112572213	112572213	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	32	0	ENST00000369519.3:c.2058A>C	p.Glu686Asp	p.E686D	ENST00000369519	NM_001134363.1	686	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44477.1	2058	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAAGAGCG	NONE	.	.	hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF2	.	.	ENSP00000358532	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000369519	Transcript	1	.	ENSG00000203867	27424	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.1)	.	RBM20_HUMAN	RBM20	HGNC	.	.	UPI00016624E1	SNV	RBM20,missense_variant,p.Glu686Asp,ENST00000369519,;	2116	32	25	SUCCESS
TECTB	6975	.	GRCh37	10	114046139	114046139	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs538658987	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	141	0	ENST00000369422.3:c.473A>G	p.Asn158Ser	p.N158S	ENST00000369422	NM_058222.2	158	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7571.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAACTTCT	NONE	byCluster	.	PROSITE_profiles:PS51034,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241	.	.	ENSP00000358430	.	4/10	.	.	.	.	.	.	.	.	rs538658987	4/10	PASS	ENST00000369422	Transcript	.	.	ENSG00000119913	11721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	TECTB_HUMAN	TECTB	HGNC	.	.	UPI00000720CC	SNV	TECTB,missense_variant,p.Asn158Ser,ENST00000369422,;	473	141	128	SUCCESS
TACC2	10579	.	GRCh37	10	123846536	123846536	+	synonymous_variant	Silent	SNP	G	G	T	rs1290319071	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	32	0	ENST00000334433.3:c.4521G>T	p.Arg1507=	p.R1507=	ENST00000334433		1507	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7626.1	4521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGAACTT	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,synonymous_variant,p.%3D,ENST00000369005,;TACC2,synonymous_variant,p.%3D,ENST00000453444,;TACC2,synonymous_variant,p.%3D,ENST00000334433,;TACC2,synonymous_variant,p.%3D,ENST00000515603,;TACC2,synonymous_variant,p.%3D,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	4861	32	44	SUCCESS
CTNNA3	29119	.	GRCh37	10	67829142	67829142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	127	272	1	ENST00000433211.2:c.2083G>T	p.Asp695Tyr	p.D695Y	ENST00000433211	NM_013266.2	695	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS7269.1	2083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCCCATA	NONE	.	.	hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000389714	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000433211	Transcript	1	.	ENSG00000183230	2511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	CTNA3_HUMAN	CTNNA3	HGNC	Q5SW23_HUMAN,A6NKP0_HUMAN	.	UPI000004A0E6	SNV	CTNNA3,missense_variant,p.Asp695Tyr,ENST00000433211,;CTNNA3,missense_variant,p.Asp695Tyr,ENST00000373744,;CTNNA3,non_coding_transcript_exon_variant,,ENST00000373735,;	2258	273	318	SUCCESS
PIPSL	266971	.	GRCh37	10	95719360	95719360	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	110	238	0	ENST00000480546.1:n.1938G>A		p.*646*	ENST00000480546				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCACAAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000480546	Transcript	.	.	ENSG00000180764	23733	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PIPSL	HGNC	.	.	.	SNV	PIPSL,non_coding_transcript_exon_variant,,ENST00000480546,;SLC35G1,downstream_gene_variant,,ENST00000494992,;PIPSL,non_coding_transcript_exon_variant,,ENST00000489875,;PIPSL,downstream_gene_variant,,ENST00000540371,;	1938	238	255	SUCCESS
PDGFD	80310	.	GRCh37	11	103870889	103870889	+	synonymous_variant	Silent	SNP	G	G	A	rs200239592	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	148	382	0	ENST00000393158.2:c.219C>T	p.Tyr73=	p.Y73=	ENST00000393158		73	taC/taT	0	.	C:0	.	C:0	.	A	Y	protein_coding	YES	CCDS41703.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGTAGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF13,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	C:0.001	.	ENSP00000376865	C:0	2/7	.	.	.	.	.	.	.	.	rs200239592	2/7	PASS	ENST00000393158	Transcript	.	C:0.0002	ENSG00000170962	30620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	PDGFD_HUMAN	PDGFD	HGNC	.	.	UPI0000034811	SNV	PDGFD,synonymous_variant,p.%3D,ENST00000529268,;PDGFD,synonymous_variant,p.%3D,ENST00000302251,;PDGFD,synonymous_variant,p.%3D,ENST00000393158,;	399	383	386	SUCCESS
GRIK4	2900	.	GRCh37	11	120827654	120827654	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	24	0	ENST00000438375.2:c.1866T>C	p.Ser622=	p.S622=	ENST00000438375	NM_014619.2	622	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS8433.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGTGGCGT	NONE	.	.	hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Prints_domain:PR00177	.	.	ENSP00000435648	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000527524	Transcript	.	.	ENSG00000149403	4582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,synonymous_variant,p.%3D,ENST00000438375,;GRIK4,synonymous_variant,p.%3D,ENST00000527524,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	2153	24	23	SUCCESS
SPATA19	219938	.	GRCh37	11	133714431	133714431	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	81	183	0	ENST00000299140.3:c.240C>A	p.Gly80=	p.G80=	ENST00000299140	NM_174927.1	80	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8493.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGCCATG	NONE	.	.	Pfam_domain:PF15212	.	.	ENSP00000299140	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000299140	Transcript	.	.	ENSG00000166118	30614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT19_HUMAN	SPATA19	HGNC	.	.	UPI000007021D	SNV	SPATA19,synonymous_variant,p.%3D,ENST00000532889,;SPATA19,synonymous_variant,p.%3D,ENST00000299140,;	295	183	195	SUCCESS
SPTY2D1	144108	.	GRCh37	11	18638422	18638422	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	96	255	0	ENST00000336349.5:c.175G>C	p.Ala59Pro	p.A59P	ENST00000336349	NM_194285.2	59	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS31441.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTTTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22691:SF8,hmmpanther:PTHR22691	.	.	ENSP00000337991	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000336349	Transcript	.	.	ENSG00000179119	26818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	tolerated(0.07)	.	SPT2_HUMAN	SPTY2D1	HGNC	B4E223_HUMAN	.	UPI00001607F0	SNV	SPTY2D1,missense_variant,p.Ala59Pro,ENST00000336349,;SPTY2D1,splice_region_variant,,ENST00000543776,;SPTY2D1,splice_region_variant,,ENST00000536336,;	411	255	234	SUCCESS
OR1S1	219959	.	GRCh37	11	57983007	57983007	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	98	239	0	ENST00000309433.6:c.791T>A	p.Phe264Tyr	p.F264Y	ENST00000309433	NM_001004458.1	264	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS31546.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTTCTACG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000311688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309433	Transcript	.	.	ENSG00000172774	8227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.12)	.	OR1S1_HUMAN	OR1S1	HGNC	.	.	UPI0000041C51	SNV	OR1S1,missense_variant,p.Phe264Tyr,ENST00000309433,;	791	239	227	SUCCESS
MPEG1	219972	.	GRCh37	11	58979138	58979139	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	85	0	ENST00000361050.3:c.1200_1201insC	p.Glu401ArgfsTer9	p.E401Rfs*9	ENST00000361050	NM_001039396.1	400	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS41650.1	1200-1201	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCTCCAACT	NONE	.	.	hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3	.	.	ENSP00000354335	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361050	Transcript	.	.	ENSG00000197629	29619	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPEG1_HUMAN	MPEG1	HGNC	.	.	UPI0000049D9F	insertion	MPEG1,frameshift_variant,p.Glu401ArgfsTer9,ENST00000361050,;DTX4,downstream_gene_variant,,ENST00000227451,;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	1286-1287	85	127	SUCCESS
PPP1R32	220004	.	GRCh37	11	61249803	61249803	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1565138663	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	51	0	ENST00000338608.2:c.130C>T	p.Arg44Cys	p.R44C	ENST00000338608	NM_145017.2	44	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS8008.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCGTGTG	NONE	.	.	.	.	.	ENSP00000344140	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000338608	Transcript	.	.	ENSG00000162148	28869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.01)	.	PPR32_HUMAN	PPP1R32	HGNC	G3F4G3_HUMAN,F5H272_HUMAN	.	UPI000013E13F	SNV	PPP1R32,missense_variant,p.Arg44Cys,ENST00000338608,;PPP1R32,missense_variant,p.Arg44Cys,ENST00000432063,;PPP1R32,upstream_gene_variant,,ENST00000535545,;RP11-286N22.8,downstream_gene_variant,,ENST00000541135,;PPP1R32,upstream_gene_variant,,ENST00000542951,;RP11-286N22.8,intron_variant,,ENST00000544880,;RP11-286N22.8,downstream_gene_variant,,ENST00000544025,;RP11-286N22.8,3_prime_UTR_variant,,ENST00000544801,;RP11-286N22.8,3_prime_UTR_variant,,ENST00000543044,;RP11-286N22.8,intron_variant,,ENST00000538594,;	255	51	58	SUCCESS
GANAB	23193	.	GRCh37	11	62407128	62407128	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	76	160	0	ENST00000356638.3:c.114T>C	p.Phe38=	p.F38=	ENST00000356638	NM_198334.2	38	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS41656.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTAAAGTT	NONE	.	.	hmmpanther:PTHR22762:SF51,hmmpanther:PTHR22762	.	.	ENSP00000340466	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000346178	Transcript	.	.	ENSG00000089597	4138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GANAB_HUMAN	GANAB	HGNC	.	.	UPI0000052BE8	SNV	GANAB,synonymous_variant,p.%3D,ENST00000356638,;GANAB,synonymous_variant,p.%3D,ENST00000346178,;GANAB,5_prime_UTR_variant,,ENST00000540933,;GANAB,intron_variant,,ENST00000525994,;GANAB,intron_variant,,ENST00000534779,;GANAB,non_coding_transcript_exon_variant,,ENST00000534419,;GANAB,upstream_gene_variant,,ENST00000534422,;GANAB,synonymous_variant,p.%3D,ENST00000529737,;GANAB,synonymous_variant,p.%3D,ENST00000534613,;GANAB,synonymous_variant,p.%3D,ENST00000532402,;GANAB,synonymous_variant,p.%3D,ENST00000526210,;GANAB,intron_variant,,ENST00000526392,;GANAB,upstream_gene_variant,,ENST00000524437,;	130	160	172	SUCCESS
KAT5	10524	.	GRCh37	11	65479799	65479799	+	intron_variant	Intron	SNP	A	A	G	rs755559349	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	65	0	ENST00000377046.3:c.12+49A>G		p.*4*	ENST00000377046	NM_006388.3	21		0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8110.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTAGAGCC	NONE	byFrequency	.	.	.	.	ENSP00000340330	.	1/13	.	.	.	.	.	.	.	.	rs755559349	1/13	PASS	ENST00000341318	Transcript	.	.	ENSG00000172977	5275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.07)	.	KAT5_HUMAN	KAT5	HGNC	E9PMG8_HUMAN,E9PJI1_HUMAN	.	UPI00001D3EFB	SNV	KAT5,missense_variant,p.Arg21Gly,ENST00000530446,;KAT5,missense_variant,p.Arg21Gly,ENST00000341318,;KAT5,intron_variant,,ENST00000352980,;KAT5,intron_variant,,ENST00000377046,;KAT5,intron_variant,,ENST00000534104,;KAT5,upstream_gene_variant,,ENST00000531880,;KAT5,upstream_gene_variant,,ENST00000534650,;KAT5,upstream_gene_variant,,ENST00000528198,;KAT5,upstream_gene_variant,,ENST00000530605,;KAT5,upstream_gene_variant,,ENST00000534681,;KAT5,upstream_gene_variant,,ENST00000525204,;KAT5,upstream_gene_variant,,ENST00000534293,;KAT5,intron_variant,,ENST00000532042,;KAT5,upstream_gene_variant,,ENST00000527544,;KAT5,upstream_gene_variant,,ENST00000533441,;RNASEH2C,downstream_gene_variant,,ENST00000534482,;	295	65	78	SUCCESS
KDM2A	22992	.	GRCh37	11	66975117	66975117	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	102	0	ENST00000529006.2:c.444T>A	p.Phe148Leu	p.F148L	ENST00000529006	NM_012308.2	148	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS44657.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTTAGCCA	NONE	.	.	Superfamily_domains:SSF51197,SMART_domains:SM00558,Gene3D:1vrbA01,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,PROSITE_profiles:PS51184	.	.	ENSP00000432786	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000529006	Transcript	.	.	ENSG00000173120	13606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KDM2A_HUMAN	KDM2A	HGNC	I3VM54_HUMAN,I3VM53_HUMAN	.	UPI00001678A9	SNV	KDM2A,missense_variant,p.Phe148Leu,ENST00000398645,;KDM2A,missense_variant,p.Phe148Leu,ENST00000529006,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000528380,;	890	103	108	SUCCESS
KDM2A	22992	.	GRCh37	11	66986855	66986855	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs774795323	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	59	172	1	ENST00000529006.2:c.938A>G	p.Asn313Ser	p.N313S	ENST00000529006	NM_012308.2	313	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS44657.1	938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAACATTG	NONE	.	.	Superfamily_domains:SSF51197,SMART_domains:SM00558,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,PROSITE_profiles:PS51184	.	.	ENSP00000432786	.	10/21	.	.	.	.	.	.	.	.	rs774795323	10/21	PASS	ENST00000529006	Transcript	.	.	ENSG00000173120	13606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.64)	.	KDM2A_HUMAN	KDM2A	HGNC	I3VM54_HUMAN,I3VM53_HUMAN	.	UPI00001678A9	SNV	KDM2A,missense_variant,p.Asn313Ser,ENST00000398645,;KDM2A,missense_variant,p.Asn313Ser,ENST00000529006,;snoU13,upstream_gene_variant,,ENST00000459034,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525379,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,downstream_gene_variant,,ENST00000528380,;	1384	173	145	SUCCESS
SHANK2	22941	.	GRCh37	11	70336302	70336302	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	57	0	ENST00000423696.2:c.1414+79C>G		p.*472*	ENST00000423696				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCTCAG	NONE	.	.	.	.	.	ENSP00000345193	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODIFIER	30/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,3_prime_UTR_variant,,ENST00000409530,;SHANK2,3_prime_UTR_variant,,ENST00000449116,;SHANK2,intron_variant,,ENST00000409161,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,intron_variant,,ENST00000424924,;SHANK2,intron_variant,,ENST00000423696,;SHANK2,intron_variant,,ENST00000294018,;SHANK2,intron_variant,,ENST00000338508,;SHANK2,intron_variant,,ENST00000449833,;SHANK2,downstream_gene_variant,,ENST00000426687,;SHANK2,downstream_gene_variant,,ENST00000357171,;	.	57	52	SUCCESS
SIRT4	23409	.	GRCh37	12	120741415	120741415	+	synonymous_variant	Silent	SNP	C	C	T	rs199859894	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	62	0	ENST00000202967.4:c.51C>T	p.Ile17=	p.I17=	ENST00000202967	NM_012240.2	17	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9194.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCGCAAA	NONE	byCluster	.	hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF6	.	.	ENSP00000202967	.	2/4	.	.	.	.	.	.	.	.	rs199859894	2/4	PASS	ENST00000202967	Transcript	.	.	ENSG00000089163	14932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIR4_HUMAN	SIRT4	HGNC	F5H4X9_HUMAN	.	UPI0000071F11	SNV	SIRT4,synonymous_variant,p.%3D,ENST00000202967,;SIRT4,5_prime_UTR_variant,,ENST00000536460,;SIRT4,upstream_gene_variant,,ENST00000537892,;	110	62	74	SUCCESS
HNF1A	6927	.	GRCh37	12	121416711	121416714	+	frameshift_variant	Frame_Shift_Del	DEL	GGGA	GGGA	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	GGGA	GGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	43	0	ENST00000257555.6:c.141_144del	p.Glu48ProfsTer106	p.E48Pfs*106	ENST00000257555		47	gGGGAg/gg	0	.	.	.	.	.	-	GE/X	protein_coding	YES	CCDS9209.1	140-143	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAGGGGGAGTCCT	NONE	.	.	hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF04814	.	.	ENSP00000257555	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	deletion	HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000541395,;HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000400024,;HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000402929,;HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000544413,;HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000543427,;HNF1A,intron_variant,,ENST00000535955,;HNF1A-AS1,intron_variant,,ENST00000537361,;HNF1A-AS1,intron_variant,,ENST00000433033,;HNF1A-AS1,intron_variant,,ENST00000535301,;HNF1A,frameshift_variant,p.Glu96ProfsTer106,ENST00000560968,;HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000538646,;HNF1A,frameshift_variant,p.Glu48ProfsTer106,ENST00000541924,;HNF1A,frameshift_variant,p.Glu48ProfsTer517,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;	366-369	43	39	SUCCESS
HNF1A	6927	.	GRCh37	12	121432014	121432014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	64	0	ENST00000257555.6:c.761T>A	p.Leu254Gln	p.L254Q	ENST00000257555		254	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS9209.1	761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGGGCT	CODON|p.Q250_G255delQAQGLG|c.747_764del18|4	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000257555	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Leu254Gln,ENST00000541395,;HNF1A,missense_variant,p.Leu254Gln,ENST00000400024,;HNF1A,missense_variant,p.Leu254Gln,ENST00000402929,;HNF1A,missense_variant,p.Leu137Gln,ENST00000543427,;HNF1A,missense_variant,p.Leu254Gln,ENST00000544413,;HNF1A,missense_variant,p.Leu254Gln,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Trp192Arg,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000541924,;HNF1A,upstream_gene_variant,,ENST00000543255,;	987	64	56	SUCCESS
GRIN2B	2904	.	GRCh37	12	13720174	13720174	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	64	128	0	ENST00000609686.1:c.2383C>T	p.Leu795Phe	p.L795F	ENST00000609686	NM_000834.3	795	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS8662.1	2383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGAGCTT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000477455	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000609686	Transcript	.	.	ENSG00000273079	4586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NMDE2_HUMAN	GRIN2B	HGNC	Q59HA9_HUMAN	.	UPI000013026C	SNV	GRIN2B,missense_variant,p.Leu795Phe,ENST00000609686,;	2593	128	157	SUCCESS
BCAT1	586	.	GRCh37	12	24989464	24989464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	59	167	0	ENST00000261192.7:c.884T>C	p.Leu295Pro	p.L295P	ENST00000261192	NM_005504.6	295	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS53761.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAGAATG	NONE	.	.	hmmpanther:PTHR11825:SF29,hmmpanther:PTHR11825,Pfam_domain:PF01063,TIGRFAM_domain:TIGR01123,Gene3D:3.20.10.10,PIRSF_domain:PIRSF006468,Superfamily_domains:SSF56752	.	.	ENSP00000443459	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000539282	Transcript	.	.	ENSG00000060982	976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	BCAT1_HUMAN	BCAT1	HGNC	.	.	UPI0001D27F89	SNV	BCAT1,missense_variant,p.Leu294Pro,ENST00000538118,;BCAT1,missense_variant,p.Leu258Pro,ENST00000539780,;BCAT1,missense_variant,p.Leu307Pro,ENST00000539282,;BCAT1,missense_variant,p.Leu234Pro,ENST00000342945,;BCAT1,missense_variant,p.Leu295Pro,ENST00000261192,;RP11-625L16.3,non_coding_transcript_exon_variant,,ENST00000545410,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;	1007	167	153	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48134656	48134656	+	intron_variant	Intron	SNP	G	G	T	rs372543770	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	55	0	ENST00000389212.3:c.2049+42C>A		p.*683*	ENST00000389212				0	A:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS41775.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCCCCG	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000395708	.	.	.	.	.	.	.	.	.	.	rs372543770	.	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODIFIER	20/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,intron_variant,,ENST00000548919,;RAPGEF3,intron_variant,,ENST00000389212,;RAPGEF3,intron_variant,,ENST00000171000,;RAPGEF3,intron_variant,,ENST00000549151,;RAPGEF3,intron_variant,,ENST00000449771,;RAPGEF3,intron_variant,,ENST00000405493,;RAPGEF3,downstream_gene_variant,,ENST00000395358,;RP1-197B17.3,non_coding_transcript_exon_variant,,ENST00000547799,;RAPGEF3,intron_variant,,ENST00000548434,;RAPGEF3,intron_variant,,ENST00000479866,;RAPGEF3,intron_variant,,ENST00000473777,;RAPGEF3,intron_variant,,ENST00000395360,;RAPGEF3,intron_variant,,ENST00000547856,;RAPGEF3,intron_variant,,ENST00000488250,;RAPGEF3,intron_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000490387,;RAPGEF3,upstream_gene_variant,,ENST00000476259,;	.	55	59	SUCCESS
FAM186A	121006	.	GRCh37	12	50724480	50724480	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	98	189	0	ENST00000327337.5:c.6910A>T	p.Ile2304Leu	p.I2304L	ENST00000327337	NM_001145475.1	2304	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS44878.1	6910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTATTGGGT	NONE	.	.	.	.	.	ENSP00000329995	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000327337	Transcript	.	.	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Ile315Leu,ENST00000543096,;FAM186A,missense_variant,p.Ile2304Leu,ENST00000327337,;FAM186A,missense_variant,p.Ile2304Leu,ENST00000543111,;FAM186A,3_prime_UTR_variant,,ENST00000539751,;	6910	189	255	SUCCESS
PTPRB	5787	.	GRCh37	12	70970186	70970186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	74	188	0	ENST00000261266.5:c.2164C>A	p.His722Asn	p.H722N	ENST00000261266	NM_002837.4	722	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS44943.1	2818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGATTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10	.	.	ENSP00000334928	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	deleterious(0.05)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.His722Asn,ENST00000538708,;PTPRB,missense_variant,p.His939Asn,ENST00000551525,;PTPRB,missense_variant,p.His722Asn,ENST00000261266,;PTPRB,missense_variant,p.His632Asn,ENST00000451516,;PTPRB,missense_variant,p.His819Asn,ENST00000548122,;PTPRB,missense_variant,p.His632Asn,ENST00000550857,;PTPRB,missense_variant,p.His940Asn,ENST00000334414,;PTPRB,intron_variant,,ENST00000550358,;	2863	188	210	SUCCESS
OTOGL	283310	.	GRCh37	12	80761993	80761993	+	synonymous_variant	Silent	SNP	A	A	G	rs370122451	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	69	204	0	ENST00000547103.1:c.6456A>G	p.Val2152=	p.V2152=	ENST00000547103		2152	gtA/gtG	0	G:0	.	.	.	.	G	V	protein_coding	YES	.	6492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTATATAC	NONE	.	.	hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	G:0.0001	ENSP00000400895	.	54/58	.	.	.	.	.	.	.	.	rs370122451	54/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,synonymous_variant,p.%3D,ENST00000546620,;OTOGL,synonymous_variant,p.%3D,ENST00000458043,;OTOGL,synonymous_variant,p.%3D,ENST00000550182,;OTOGL,synonymous_variant,p.%3D,ENST00000298820,;OTOGL,synonymous_variant,p.%3D,ENST00000547103,;OTOGL,3_prime_UTR_variant,,ENST00000551340,;	6498	204	186	SUCCESS
MGAT4C	25834	.	GRCh37	12	86374008	86374008	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	110	0	ENST00000548651.1:c.496G>T	p.Ala166Ser	p.A166S	ENST00000548651	NM_013244.3	166	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9030.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCAATAA	NONE	.	.	hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF8,Pfam_domain:PF04666	.	.	ENSP00000474896	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000604798	Transcript	.	.	ENSG00000182050	30871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.55)	.	MGT4C_HUMAN	MGAT4C	HGNC	F8VWY2_HUMAN	.	UPI00001B002C	SNV	MGAT4C,missense_variant,p.Ala166Ser,ENST00000548651,;MGAT4C,missense_variant,p.Ala166Ser,ENST00000552808,;MGAT4C,missense_variant,p.Ala166Ser,ENST00000332156,;MGAT4C,missense_variant,p.Ala166Ser,ENST00000604798,;MGAT4C,missense_variant,p.Ala166Ser,ENST00000547225,;MGAT4C,missense_variant,p.Ala166Ser,ENST00000549405,;MGAT4C,missense_variant,p.Ala195Ser,ENST00000393205,;MGAT4C,intron_variant,,ENST00000552435,;	1701	110	104	SUCCESS
CEP290	80184	.	GRCh37	12	88486497	88486497	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	130	330	0	ENST00000552810.1:c.3422T>C	p.Leu1141Ser	p.L1141S	ENST00000552810	NM_025114.3	1141	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS55858.1	3422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTAATTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879	.	.	ENSP00000448012	.	29/54	.	.	.	.	.	.	.	.	.	29/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Leu1141Ser,ENST00000552810,;CEP290,missense_variant,p.Leu201Ser,ENST00000397838,;CEP290,missense_variant,p.Leu1143Ser,ENST00000309041,;CEP290,missense_variant,p.Leu201Ser,ENST00000547691,;CEP290,downstream_gene_variant,,ENST00000604024,;	3766	330	324	SUCCESS
PLXNC1	10154	.	GRCh37	12	94542869	94542869	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000258526.4:c.122G>T	p.Arg41Leu	p.R41L	ENST00000258526	NM_005761.2	41	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS9049.1	122	MUTECT|VARSCANS	.	GTGGCGGTCGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	.	ENSP00000258526	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000258526	Transcript	.	.	ENSG00000136040	9106	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious_low_confidence(0.01)	.	PLXC1_HUMAN	PLXNC1	HGNC	F8VUW4_HUMAN,F5H3A2_HUMAN	.	UPI0000038AF4	SNV	PLXNC1,missense_variant,p.Arg41Leu,ENST00000258526,;PLXNC1,upstream_gene_variant,,ENST00000546733,;	371	8	10	SUCCESS
MYO16	23026	.	GRCh37	13	109540788	109540788	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	73	173	1	ENST00000356711.2:c.1556G>T	p.Gly519Val	p.G519V	ENST00000356711	NM_015011.1	519	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32008.1	1556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCGCCA	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000349145	.	14/35	.	.	.	.	.	.	.	.	.	14/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.1)	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,missense_variant,p.Gly31Val,ENST00000457511,;MYO16,missense_variant,p.Gly519Val,ENST00000251041,;MYO16,missense_variant,p.Gly519Val,ENST00000356711,;MYO16,missense_variant,p.Gly519Val,ENST00000357550,;MYO16,non_coding_transcript_exon_variant,,ENST00000482793,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	1682	174	182	SUCCESS
NBEA	26960	.	GRCh37	13	35672500	35672500	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	62	150	0	ENST00000400445.3:c.1638G>T	p.Leu546=	p.L546=	ENST00000400445	NM_015678.4	546	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45026.1	1638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGGGTGG	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	11/58	.	.	.	.	.	.	.	.	.	11/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,synonymous_variant,p.%3D,ENST00000400445,;NBEA,synonymous_variant,p.%3D,ENST00000540320,;NBEA,synonymous_variant,p.%3D,ENST00000310336,;NBEA,synonymous_variant,p.%3D,ENST00000379939,;	2172	150	165	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37678916	37678916	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	373	304	550	0	ENST00000379800.3:c.478T>A	p.Leu160Met	p.L160M	ENST00000379800	NM_145203.5	160	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9363.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAAACCAA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,missense_variant,p.Leu160Met,ENST00000379800,;	888	551	677	SUCCESS
SUGT1	10910	.	GRCh37	13	53254291	53254291	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	44	187	0	ENST00000343788.6:c.996+1G>T		p.X332_splice	ENST00000343788	NM_001130912.1	332		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45050.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGTAAGA	NONE	.	.	.	.	.	ENSP00000367208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343788	Transcript	.	.	ENSG00000165416	16987	.	.	HIGH	13/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUGT1_HUMAN	SUGT1	HGNC	.	.	UPI00001CDFF4	SNV	SUGT1,splice_donor_variant,,ENST00000343788,;SUGT1,splice_donor_variant,,ENST00000310528,;SUGT1,splice_donor_variant,,ENST00000535397,;	.	187	132	SUCCESS
TBC1D4	9882	.	GRCh37	13	76055603	76055603	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	33	70	0	ENST00000377636.3:c.301G>A	p.Ala101Thr	p.A101T	ENST00000377636	NM_014832.2	101	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41901.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000366863	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000377636	Transcript	.	.	ENSG00000136111	19165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.54)	.	TBCD4_HUMAN	TBC1D4	HGNC	.	.	UPI00001AE7B3	SNV	TBC1D4,missense_variant,p.Ala101Thr,ENST00000377625,;TBC1D4,missense_variant,p.Ala101Thr,ENST00000431480,;TBC1D4,missense_variant,p.Ala101Thr,ENST00000377636,;TBC1D4,5_prime_UTR_variant,,ENST00000425511,;	648	70	70	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102467528	102467528	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	84	237	0	ENST00000360184.4:c.4232G>A	p.Arg1411His	p.R1411H	ENST00000360184	NM_001376.4	1411	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS9966.1	4232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGCCATT	BUFFER|p.W1413L|c.4238G>T|3	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000348965	.	20/78	.	.	.	.	.	.	.	.	COSM4049136	20/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	.	1	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Arg1411His,ENST00000360184,;	4396	237	238	SUCCESS
AHNAK2	113146	.	GRCh37	14	105418058	105418058	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	51	71	0	ENST00000333244.5:c.3730G>C	p.Gly1244Arg	p.G1244R	ENST00000333244	NM_138420.2	1244	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS45177.1	3730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCTTTGA	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Gly1244Arg,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	3850	71	57	SUCCESS
OR4K2	390431	.	GRCh37	14	20344661	20344661	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768493157	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	274	111	384	0	ENST00000298642.2:c.235C>A	p.Pro79Thr	p.P79T	ENST00000298642	NM_001005501.1	79	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS32023.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCCAAAG	BUFFER|p.F76F|c.228C>T|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000298642	.	1/1	.	.	.	.	.	.	.	.	rs768493157	1/1	PASS	ENST00000298642	Transcript	.	.	ENSG00000165762	14728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR4K2_HUMAN	OR4K2	HGNC	.	.	UPI0000041B4D	SNV	OR4K2,missense_variant,p.Pro79Thr,ENST00000298642,;	271	385	386	SUCCESS
OR4K1	79544	.	GRCh37	14	20404418	20404418	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	66	300	0	ENST00000285600.4:c.593T>G	p.Met198Arg	p.M198R	ENST00000285600	NM_001004063.2	198	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS32025.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATGACCC	BUFFER|p.E196K|c.586G>A|3,BUFFER|p.T201T|c.603G>A|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF182,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000285600	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000285600	Transcript	.	.	ENSG00000155249	14726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious(0.01)	.	OR4K1_HUMAN	OR4K1	HGNC	.	.	UPI0000041B4A	SNV	OR4K1,missense_variant,p.Met198Arg,ENST00000285600,;	652	300	252	SUCCESS
MYH7	4625	.	GRCh37	14	23897841	23897841	+	synonymous_variant	Silent	SNP	G	G	A	rs775745470	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	300	15	201	1	ENST00000355349.3:c.1446C>T	p.Asn482=	p.N482=	ENST00000355349	NM_000257.2	482	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS9601.1	1446	MUTECT|MUSE	.	TTCTCGTTGGT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000347507	.	15/40	.	.	.	.	.	.	.	.	rs775745470,COSM1369236	15/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,synonymous_variant,p.%3D,ENST00000355349,;	1609	202	315	SUCCESS
BNIP3P1	319138	.	GRCh37	14	28734390	28734390	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	34	0	ENST00000550043.1:n.795C>T		p.*265*	ENST00000550043				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCTTGCA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000550043	Transcript	.	.	ENSG00000197358	19922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	BNIP3P1	HGNC	.	.	.	SNV	BNIP3P1,non_coding_transcript_exon_variant,,ENST00000550043,;BNIP3P1,non_coding_transcript_exon_variant,,ENST00000355069,;BNIP3P1,downstream_gene_variant,,ENST00000547295,;	795	34	32	SUCCESS
NID2	22795	.	GRCh37	14	52535526	52535526	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	28	0	ENST00000216286.5:c.187A>T	p.Asn63Tyr	p.N63Y	ENST00000216286	NM_007361.3	63	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9706.1	187	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGATTCGCCA	NONE	.	.	.	.	.	ENSP00000216286	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.044)	.	tolerated(0.08)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Asn10Tyr,ENST00000541773,;NID2,missense_variant,p.Asn63Tyr,ENST00000216286,;	187	28	32	SUCCESS
RTN1	6252	.	GRCh37	14	60074128	60074128	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	37	0	ENST00000267484.5:c.1848C>A	p.Thr616=	p.T616=	ENST00000267484	NM_021136.2	616	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9740.1	1848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGGTCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50845,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994,Pfam_domain:PF02453	.	.	ENSP00000267484	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,synonymous_variant,p.%3D,ENST00000395090,;RTN1,synonymous_variant,p.%3D,ENST00000342503,;RTN1,synonymous_variant,p.%3D,ENST00000267484,;RTN1,non_coding_transcript_exon_variant,,ENST00000557422,;RTN1,non_coding_transcript_exon_variant,,ENST00000474911,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;RTN1,upstream_gene_variant,,ENST00000490111,;RTN1,upstream_gene_variant,,ENST00000481205,;	2184	37	65	SUCCESS
RTN1	6252	.	GRCh37	14	60097163	60097163	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	61	0	ENST00000267484.5:c.1766-22953G>T		p.*589*	ENST00000267484	NM_021136.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9740.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATACCCTGA	NONE	.	.	.	.	.	ENSP00000267484	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,splice_donor_variant,,ENST00000395090,;RTN1,splice_donor_variant,,ENST00000342503,;RTN1,intron_variant,,ENST00000267484,;RTN1,splice_donor_variant,,ENST00000557422,;RTN1,intron_variant,,ENST00000432103,;	.	61	71	SUCCESS
VRTN	55237	.	GRCh37	14	74824462	74824463	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs749358571	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	31	0	ENST00000256362.4:c.983dup	p.Val329ArgfsTer25	p.V329Rfs*25	ENST00000256362	NM_018228.2	326	cgg/cGgg	0	.	.	.	.	.	G	R/RX	protein_coding	YES	CCDS9830.1	976-977	INDELOCATOR|VARSCANI	.	TCCACCGGGGG	NONE	.	.	hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081	.	.	ENSP00000256362	.	2/2	.	.	.	.	.	.	.	.	rs749358571,COSM112012	2/2	PASS	ENST00000256362	Transcript	.	.	ENSG00000133980	20223	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	VRTN_HUMAN	VRTN	HGNC	G3V537_HUMAN	.	UPI00000737D5	insertion	VRTN,frameshift_variant,p.Val329ArgfsTer25,ENST00000256362,;VRTN,downstream_gene_variant,,ENST00000557177,;	1217-1218	31	24	SUCCESS
POMT2	29954	.	GRCh37	14	77751296	77751296	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	131	0	ENST00000261534.4:c.1573A>T	p.Lys525Ter	p.K525*	ENST00000261534	NM_013382.5	525	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS9857.1	1573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTGGGAT	NONE	.	.	hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF31,Pfam_domain:PF02815,Gene3D:2.80.10.50	.	.	ENSP00000261534	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000261534	Transcript	.	.	ENSG00000009830	19743	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POMT2_HUMAN	POMT2	HGNC	G3V4X9_HUMAN	.	UPI0000070587	SNV	POMT2,stop_gained,p.Lys525Ter,ENST00000261534,;POMT2,upstream_gene_variant,,ENST00000556171,;POMT2,downstream_gene_variant,,ENST00000557675,;POMT2,downstream_gene_variant,,ENST00000554884,;POMT2,non_coding_transcript_exon_variant,,ENST00000555134,;POMT2,non_coding_transcript_exon_variant,,ENST00000452340,;POMT2,non_coding_transcript_exon_variant,,ENST00000554767,;POMT2,downstream_gene_variant,,ENST00000556404,;POMT2,downstream_gene_variant,,ENST00000553880,;POMT2,upstream_gene_variant,,ENST00000554564,;POMT2,upstream_gene_variant,,ENST00000555710,;POMT2,downstream_gene_variant,,ENST00000556851,;	1776	131	109	SUCCESS
MAGEL2	54551	.	GRCh37	15	23889987	23889987	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	20	0	ENST00000532292.1:c.1094G>T	p.Ser365Ile	p.S365I	ENST00000532292	NM_019066.4	365	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	.	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCACTCAGG	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious(0.01)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Ser365Ile,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	1189	20	15	SUCCESS
NDN	4692	.	GRCh37	15	23932414	23932414	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	21	0	ENST00000331837.4:c.-50T>C		p.*17*	ENST00000331837	NM_002487.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10014.1	.	MUTECT|MUSE	.	CTTCGAGCCTG	NONE	.	.	.	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,5_prime_UTR_variant,,ENST00000331837,;	37	21	22	SUCCESS
MEIS2	4212	.	GRCh37	15	37329148	37329148	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	103	216	1	ENST00000561208.1:c.767A>T	p.Asp256Val	p.D256V	ENST00000561208		256	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS10044.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGTCTAAA	NONE	.	.	hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850	.	.	ENSP00000453793	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000561208	Transcript	1	.	ENSG00000134138	7001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.03)	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,missense_variant,p.Asp256Val,ENST00000424352,;MEIS2,missense_variant,p.Asp110Val,ENST00000219869,;MEIS2,missense_variant,p.Asp256Val,ENST00000559561,;MEIS2,missense_variant,p.Asp168Val,ENST00000397620,;MEIS2,missense_variant,p.Asp115Val,ENST00000607277,;MEIS2,missense_variant,p.Asp256Val,ENST00000444725,;MEIS2,missense_variant,p.Asp168Val,ENST00000397624,;MEIS2,missense_variant,p.Asp256Val,ENST00000382766,;MEIS2,missense_variant,p.Asp243Val,ENST00000559085,;MEIS2,missense_variant,p.Asp243Val,ENST00000557796,;MEIS2,missense_variant,p.Asp256Val,ENST00000561208,;MEIS2,missense_variant,p.Asp256Val,ENST00000338564,;MEIS2,missense_variant,p.Asp243Val,ENST00000340545,;MEIS2,missense_variant,p.Asp256Val,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561163,;	1186	217	217	SUCCESS
MGA	23269	.	GRCh37	15	42059127	42059127	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	79	0	ENST00000219905.7:c.8847G>A	p.Lys2949=	p.K2949=	ENST00000219905	NM_001164273.1	2949	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS55959.1	8847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAGAATAC	NONE	.	.	.	.	.	ENSP00000219905	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000564190,;RP11-107F6.3,downstream_gene_variant,,ENST00000562063,;RP11-107F6.3,downstream_gene_variant,,ENST00000607504,;MGA,downstream_gene_variant,,ENST00000568255,;	9028	79	75	SUCCESS
FBN1	2200	.	GRCh37	15	48780612	48780612	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	71	0	ENST00000316623.5:c.3161G>A	p.Arg1054Lys	p.R1054K	ENST00000316623	NM_000138.4	1054	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS32232.1	3161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCTGCAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000325527	.	26/66	.	.	.	.	.	.	.	.	.	26/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Arg1054Lys,ENST00000316623,;FBN1,intron_variant,,ENST00000537463,;	3617	71	103	SUCCESS
PDCD7	10081	.	GRCh37	15	65426109	65426109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766690367	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	46	0	ENST00000204549.4:c.11C>T	p.Pro4Leu	p.P4L	ENST00000204549	NM_005707.1	4	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10201.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022	.	.	ENSP00000204549	.	1/5	.	.	.	.	.	.	.	.	rs766690367	1/5	PASS	ENST00000204549	Transcript	.	.	ENSG00000090470	8767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	PDCD7_HUMAN	PDCD7	HGNC	Q6IEG3_HUMAN	.	UPI00000731D7	SNV	PDCD7,missense_variant,p.Pro4Leu,ENST00000204549,;PDCD7,upstream_gene_variant,,ENST00000560313,;	66	46	60	SUCCESS
IDH3A	3419	.	GRCh37	15	78454584	78454584	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	56	64	0	ENST00000299518.2:c.486T>C	p.Asp162=	p.D162=	ENST00000299518	NM_005530.2	162	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS10297.1	486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATGGAGT	NONE	.	.	hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF34,TIGRFAM_domain:TIGR00175,Gene3D:3.40.718.10,Pfam_domain:PF00180,Superfamily_domains:SSF53659	.	.	ENSP00000299518	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000299518	Transcript	.	.	ENSG00000166411	5384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDH3A_HUMAN	IDH3A	HGNC	H0YM64_HUMAN,H0YLI6_HUMAN,H0YKD0_HUMAN,B7Z9J8_HUMAN,B4DJB4_HUMAN	.	UPI000012D1AC	SNV	IDH3A,synonymous_variant,p.%3D,ENST00000559881,;IDH3A,synonymous_variant,p.%3D,ENST00000299518,;IDH3A,synonymous_variant,p.%3D,ENST00000561279,;IDH3A,synonymous_variant,p.%3D,ENST00000558554,;IDH3A,synonymous_variant,p.%3D,ENST00000441490,;IDH3A,intron_variant,,ENST00000559205,;IDH3A,downstream_gene_variant,,ENST00000557826,;IDH3A,downstream_gene_variant,,ENST00000559186,;IDH3A,upstream_gene_variant,,ENST00000561366,;IDH3A,downstream_gene_variant,,ENST00000560770,;IDH3A,non_coding_transcript_exon_variant,,ENST00000558535,;IDH3A,downstream_gene_variant,,ENST00000558605,;IDH3A,3_prime_UTR_variant,,ENST00000558509,;IDH3A,3_prime_UTR_variant,,ENST00000560667,;IDH3A,3_prime_UTR_variant,,ENST00000558933,;IDH3A,3_prime_UTR_variant,,ENST00000559803,;IDH3A,non_coding_transcript_exon_variant,,ENST00000559889,;IDH3A,non_coding_transcript_exon_variant,,ENST00000558602,;IDH3A,upstream_gene_variant,,ENST00000557960,;IDH3A,downstream_gene_variant,,ENST00000560396,;IDH3A,upstream_gene_variant,,ENST00000558016,;IDH3A,downstream_gene_variant,,ENST00000559865,;IDH3A,downstream_gene_variant,,ENST00000559106,;	569	64	92	SUCCESS
AGBL1	123624	.	GRCh37	15	86685286	86685286	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	94	160	0	ENST00000441037.2:c.-36C>G		p.*12*	ENST00000441037	NM_152336.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58398.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCTGCTT	NONE	.	.	.	.	.	ENSP00000413001	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,5_prime_UTR_variant,,ENST00000441037,;AGBL1,upstream_gene_variant,,ENST00000421325,;RNA5SP400,upstream_gene_variant,,ENST00000517155,;RP11-553E24.1,upstream_gene_variant,,ENST00000567945,;	60	160	213	SUCCESS
UNKL	64718	.	GRCh37	16	1420138	1420138	+	synonymous_variant	Silent	SNP	G	G	A	rs1162742912	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	34	0	ENST00000389221.4:c.1569C>T	p.Ser523=	p.S523=	ENST00000389221	NM_001193388.3	523	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	.	1569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCTGTA	NONE	.	.	hmmpanther:PTHR14493:SF37,hmmpanther:PTHR14493	.	.	ENSP00000373873	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000389221	Transcript	.	.	ENSG00000059145	14184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNKL_HUMAN	UNKL	HGNC	D6RA68_HUMAN	.	UPI0001AE676E	SNV	UNKL,synonymous_variant,p.%3D,ENST00000513783,;UNKL,synonymous_variant,p.%3D,ENST00000508903,;UNKL,synonymous_variant,p.%3D,ENST00000403703,;UNKL,synonymous_variant,p.%3D,ENST00000397464,;UNKL,synonymous_variant,p.%3D,ENST00000402641,;UNKL,synonymous_variant,p.%3D,ENST00000389221,;UNKL,5_prime_UTR_variant,,ENST00000248104,;UNKL,upstream_gene_variant,,ENST00000391893,;UNKL,upstream_gene_variant,,ENST00000562537,;UNKL,downstream_gene_variant,,ENST00000515195,;UNKL,upstream_gene_variant,,ENST00000511095,;	1569	34	27	SUCCESS
CRYM-AS1	400508	.	GRCh37	16	21328280	21328280	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	53	215	0	ENST00000338573.5:n.672A>G		p.*224*	ENST00000338573				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGAACGGAC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338573	Transcript	.	.	ENSG00000189149	34405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CRYM-AS1	HGNC	.	.	.	SNV	CRYM-AS1,non_coding_transcript_exon_variant,,ENST00000444326,;CRYM-AS1,non_coding_transcript_exon_variant,,ENST00000338573,;CRYM-AS1,downstream_gene_variant,,ENST00000561968,;	672	215	164	SUCCESS
XPO6	23214	.	GRCh37	16	28112968	28112968	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	32	0	ENST00000304658.5:c.3087G>T	p.Val1029=	p.V1029=	ENST00000304658	NM_015171.3	1029	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42135.1	3087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCACGTT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,hmmpanther:PTHR21452	.	.	ENSP00000302790	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,synonymous_variant,p.%3D,ENST00000304658,;XPO6,synonymous_variant,p.%3D,ENST00000569315,;XPO6,synonymous_variant,p.%3D,ENST00000568065,;XPO6,synonymous_variant,p.%3D,ENST00000565698,;XPO6,downstream_gene_variant,,ENST00000573275,;XPO6,non_coding_transcript_exon_variant,,ENST00000567038,;XPO6,downstream_gene_variant,,ENST00000570007,;	3588	32	37	SUCCESS
SRCAP	10847	.	GRCh37	16	30750324	30750324	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369907818	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	66	0	ENST00000262518.4:c.8963C>T	p.Thr2988Ile	p.T2988I	ENST00000262518	NM_006662.2	2988	aCt/aTt	0	T:0	.	.	.	.	T	T/I	protein_coding	YES	CCDS10689.2	8963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTACTGTTG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	T:0.0001	ENSP00000262518	.	34/34	.	.	.	.	.	.	.	.	rs369907818	34/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Thr2988Ile,ENST00000262518,;SRCAP,missense_variant,p.Thr2830Ile,ENST00000344771,;SRCAP,missense_variant,p.Thr2926Ile,ENST00000395059,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Thr2811Ile,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	9348	66	78	SUCCESS
ZSCAN32	54925	.	GRCh37	16	3433548	3433548	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	108	225	0	ENST00000396846.3:c.1398A>C	p.Arg466Ser	p.R466S	ENST00000396846		466	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS10503.1	762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTCTACA	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF210	.	.	ENSP00000302502	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000304926	Transcript	.	.	ENSG00000140987	20812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	tolerated(0.29)	.	ZSC32_HUMAN	ZSCAN32	HGNC	I3L1K0_HUMAN,B4DWL5_HUMAN	.	UPI00001A993A	SNV	ZSCAN32,missense_variant,p.Arg466Ser,ENST00000396846,;ZSCAN32,missense_variant,p.Arg254Ser,ENST00000304926,;ZSCAN32,missense_variant,p.Arg177Ser,ENST00000439568,;ZSCAN32,missense_variant,p.Arg466Ser,ENST00000396852,;ZSCAN32,downstream_gene_variant,,ENST00000574940,;ZSCAN32,downstream_gene_variant,,ENST00000575350,;ZSCAN32,downstream_gene_variant,,ENST00000573327,;ZSCAN32,downstream_gene_variant,,ENST00000571906,;ZSCAN32,downstream_gene_variant,,ENST00000573830,;ZSCAN32,downstream_gene_variant,,ENST00000573719,;ZSCAN32,downstream_gene_variant,,ENST00000422427,;NAA60,intron_variant,,ENST00000576906,;ZSCAN32,3_prime_UTR_variant,,ENST00000576500,;ZSCAN32,non_coding_transcript_exon_variant,,ENST00000571285,;NAA60,intron_variant,,ENST00000575785,;ZSCAN32,downstream_gene_variant,,ENST00000574084,;	1564	225	277	SUCCESS
PDPR	55066	.	GRCh37	16	70190496	70190496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	21	122	0	ENST00000288050.4:c.2354G>T	p.Trp785Leu	p.W785L	ENST00000288050	NM_017990.3	785	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS45520.1	2354	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGGGGAG	NONE	.	.	Gene3D:2.40.30.110,Pfam_domain:PF08669,Superfamily_domains:SSF101790	.	.	ENSP00000288050	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	tolerated(0.07)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Trp143Leu,ENST00000563930,;PDPR,missense_variant,p.Trp168Leu,ENST00000569042,;PDPR,missense_variant,p.Trp130Leu,ENST00000542659,;PDPR,missense_variant,p.Trp785Leu,ENST00000288050,;PDPR,missense_variant,p.Trp685Leu,ENST00000398122,;PDPR,missense_variant,p.Trp785Leu,ENST00000568530,;PDPR,missense_variant,p.Trp143Leu,ENST00000567046,;PDPR,downstream_gene_variant,,ENST00000567896,;RP11-296I10.3,intron_variant,,ENST00000566989,;RP11-296I10.3,downstream_gene_variant,,ENST00000502126,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,3_prime_UTR_variant,,ENST00000565186,;PDPR,3_prime_UTR_variant,,ENST00000564563,;	3311	122	150	SUCCESS
ZNF469	84627	.	GRCh37	16	88497694	88497695	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	12	17	25	0	ENST00000437464.1:c.3733_3734del	p.His1245Ter	p.H1245*	ENST00000437464	NM_001127464.1	1244	agACat/agat	0	.	.	.	.	.	-	RH/RX	protein_coding	YES	CCDS45544.1	3732-3733	INDELOCATOR|VARSCANI	.	CAGCAGACATGAC	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	deletion	ZNF469,frameshift_variant,p.His1273Ter,ENST00000565624,;ZNF469,frameshift_variant,p.His1245Ter,ENST00000437464,;	3732-3733	25	29	SUCCESS
TCF25	22980	.	GRCh37	16	89960138	89960138	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	35	86	0	ENST00000263346.8:c.700C>G	p.Leu234Val	p.L234V	ENST00000263346	NM_014972.2	234	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS10987.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCTGTCC	NONE	.	.	hmmpanther:PTHR22684:SF0,hmmpanther:PTHR22684	.	.	ENSP00000263346	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000263346	Transcript	.	.	ENSG00000141002	29181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious(0.01)	.	TCF25_HUMAN	TCF25	HGNC	.	.	UPI000012A80B	SNV	TCF25,missense_variant,p.Leu53Val,ENST00000568409,;TCF25,missense_variant,p.Leu234Val,ENST00000263346,;TCF25,missense_variant,p.Leu96Val,ENST00000562256,;TCF25,missense_variant,p.Leu222Val,ENST00000561958,;TCF25,splice_region_variant,,ENST00000263347,;TCF25,intron_variant,,ENST00000568412,;TCF25,upstream_gene_variant,,ENST00000562193,;TCF25,downstream_gene_variant,,ENST00000565196,;TCF25,intron_variant,,ENST00000566751,;TCF25,splice_region_variant,,ENST00000568870,;TCF25,upstream_gene_variant,,ENST00000563636,;TCF25,upstream_gene_variant,,ENST00000562184,;TCF25,downstream_gene_variant,,ENST00000564652,;TCF25,upstream_gene_variant,,ENST00000570116,;TCF25,upstream_gene_variant,,ENST00000566158,;	756	86	134	SUCCESS
MYH8	4626	.	GRCh37	17	10296419	10296419	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	361	14	609	1	ENST00000403437.2:c.5275A>C	p.Lys1759Gln	p.K1759Q	ENST00000403437	NM_002472.2	1759	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS11153.1	5275	MUTECT|MUSE	.	CTTCTTGGCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000384330	.	36/40	.	.	.	.	.	.	.	.	.	36/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.101)	.	deleterious(0.01)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Lys1759Gln,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5370	610	376	SUCCESS
MYO18A	399687	.	GRCh37	17	27493801	27493801	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	59	144	1	ENST00000527372.1:c.158A>G	p.Lys53Arg	p.K53R	ENST00000527372	NM_078471.3	53	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS45642.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCTTGGAG	NONE	.	.	.	.	.	ENSP00000437073	.	2/42	.	.	.	.	.	.	.	.	.	2/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Lys53Arg,ENST00000354329,;MYO18A,missense_variant,p.Lys53Arg,ENST00000527372,;MYO18A,missense_variant,p.Lys53Arg,ENST00000533112,;MYO18A,missense_variant,p.Lys53Arg,ENST00000531253,;MYO18A,upstream_gene_variant,,ENST00000585573,;MYO18A,upstream_gene_variant,,ENST00000590565,;	339	145	180	SUCCESS
ACACA	31	.	GRCh37	17	35766431	35766431	+	5_prime_UTR_variant	5'UTR	INS	A	A	CGAG	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	71	0	ENST00000353139.5:c.-42delinsCTCG		p.*14*	ENST00000353139	NM_198834.1			0	.	.	.	.	.	CGAG	.	protein_coding	YES	CCDS42302.1	.	PINDEL|VARSCANS*	.	GCCCAAAGAGGG	NONE	.	.	.	.	.	ENSP00000344789	.	1/56	.	.	.	.	.	.	.	.	.	1/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	substitution	ACACA,5_prime_UTR_variant,,ENST00000451642,;ACACA,5_prime_UTR_variant,,ENST00000413318,;ACACA,5_prime_UTR_variant,,ENST00000416895,;ACACA,5_prime_UTR_variant,,ENST00000353139,;TADA2A,upstream_gene_variant,,ENST00000589153,;TADA2A,upstream_gene_variant,,ENST00000586023,;TADA2A,upstream_gene_variant,,ENST00000417170,;TADA2A,upstream_gene_variant,,ENST00000225396,;TADA2A,upstream_gene_variant,,ENST00000394395,;TADA2A,upstream_gene_variant,,ENST00000590005,;TADA2A,upstream_gene_variant,,ENST00000590957,;RP11-378E13.4,downstream_gene_variant,,ENST00000590364,;ACACA,non_coding_transcript_exon_variant,,ENST00000589665,;ACACA,non_coding_transcript_exon_variant,,ENST00000587545,;ACACA,5_prime_UTR_variant,,ENST00000456066,;TADA2A,upstream_gene_variant,,ENST00000587211,;TADA2A,upstream_gene_variant,,ENST00000490992,;TADA2A,upstream_gene_variant,,ENST00000585341,;TADA2A,upstream_gene_variant,,ENST00000587420,;	441	71	60	SUCCESS
GPR179	440435	.	GRCh37	17	36483358	36483358	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748614344	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	51	136	0	ENST00000342292.4:c.6094G>T	p.Val2032Leu	p.V2032L	ENST00000342292	NM_001004334.2	2032	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42308.1	6094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACACCCCTT	NONE	byFrequency	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	rs748614344	11/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.14)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Val2032Leu,ENST00000342292,;MRPL45,downstream_gene_variant,,ENST00000312513,;GPR179,intron_variant,,ENST00000584976,;MRPL45,downstream_gene_variant,,ENST00000579911,;	6115	136	127	SUCCESS
G6PC3	92579	.	GRCh37	17	42152763	42152763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	85	220	0	ENST00000269097.4:c.621G>A	p.Met207Ile	p.M207I	ENST00000269097	NM_138387.3	207	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS11476.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGCTAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12591:SF2,hmmpanther:PTHR12591,PIRSF_domain:PIRSF000905	.	.	ENSP00000269097	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000269097	Transcript	.	.	ENSG00000141349	24861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.02)	.	G6PC3_HUMAN	G6PC3	HGNC	K7EQ13_HUMAN,K7ENK1_HUMAN	.	UPI00000734E8	SNV	G6PC3,missense_variant,p.Ala42Thr,ENST00000590253,;G6PC3,missense_variant,p.Met207Ile,ENST00000269097,;G6PC3,missense_variant,p.Met171Ile,ENST00000591696,;HDAC5,downstream_gene_variant,,ENST00000393622,;HDAC5,downstream_gene_variant,,ENST00000225983,;HDAC5,downstream_gene_variant,,ENST00000586802,;HDAC5,downstream_gene_variant,,ENST00000336057,;G6PC3,3_prime_UTR_variant,,ENST00000585361,;G6PC3,3_prime_UTR_variant,,ENST00000588558,;G6PC3,non_coding_transcript_exon_variant,,ENST00000590639,;G6PC3,downstream_gene_variant,,ENST00000585962,;G6PC3,downstream_gene_variant,,ENST00000593115,;HDAC5,downstream_gene_variant,,ENST00000586339,;	852	220	244	SUCCESS
SRSF1	6426	.	GRCh37	17	56083127	56083127	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	100	0	ENST00000258962.4:c.552+35A>G		p.*184*	ENST00000258962	NM_006924.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11600.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAATTCTGG	NONE	.	.	.	.	.	ENSP00000258962	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258962	Transcript	.	.	ENSG00000136450	10780	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRSF1_HUMAN	SRSF1	HGNC	J3QQV5_HUMAN	.	UPI0000001220	SNV	SRSF1,missense_variant,p.Asn196Ser,ENST00000582730,;SRSF1,intron_variant,,ENST00000585096,;SRSF1,intron_variant,,ENST00000258962,;SRSF1,intron_variant,,ENST00000584773,;RP11-159D12.5,upstream_gene_variant,,ENST00000578794,;SRSF1,upstream_gene_variant,,ENST00000581497,;SRSF1,missense_variant,p.Asn196Ser,ENST00000581979,;SRSF1,intron_variant,,ENST00000584668,;SRSF1,intron_variant,,ENST00000583741,;SRSF1,downstream_gene_variant,,ENST00000578430,;	.	100	103	SUCCESS
UNC13D	201294	.	GRCh37	17	73836847	73836847	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754974092	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	58	121	0	ENST00000207549.4:c.679C>A	p.Arg227Ser	p.R227S	ENST00000207549	NM_199242.2	227	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11730.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGAAGCC	NONE	.	.	SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR15015:SF20,hmmpanther:PTHR15015	.	.	ENSP00000207549	.	8/32	.	.	.	.	.	.	.	.	rs754974092,COSM3890438	8/32	PASS	ENST00000207549	Transcript	.	.	ENSG00000092929	23147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.78)	.	tolerated(0.07)	0,1	UN13D_HUMAN	UNC13D	HGNC	K7EIH3_HUMAN	.	UPI000015FC91	SNV	UNC13D,missense_variant,p.Arg208Ser,ENST00000590762,;UNC13D,missense_variant,p.Arg227Ser,ENST00000412096,;UNC13D,missense_variant,p.Arg220Ser,ENST00000592386,;UNC13D,missense_variant,p.Arg227Ser,ENST00000207549,;UNC13D,intron_variant,,ENST00000586147,;WBP2,downstream_gene_variant,,ENST00000591399,;WBP2,downstream_gene_variant,,ENST00000254806,;UNC13D,downstream_gene_variant,,ENST00000586108,;WBP2,downstream_gene_variant,,ENST00000585462,;UNC13D,non_coding_transcript_exon_variant,,ENST00000587504,;UNC13D,downstream_gene_variant,,ENST00000585574,;UNC13D,non_coding_transcript_exon_variant,,ENST00000587495,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;WBP2,downstream_gene_variant,,ENST00000591831,;UNC13D,upstream_gene_variant,,ENST00000587105,;UNC13D,downstream_gene_variant,,ENST00000588774,;WBP2,downstream_gene_variant,,ENST00000587642,;	1059	121	221	SUCCESS
EVPL	2125	.	GRCh37	17	74003252	74003252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	27	0	ENST00000301607.3:c.6034C>A	p.Pro2012Thr	p.P2012T	ENST00000301607	NM_001988.2	2012	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS11737.1	6034	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGCAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7,Gene3D:3.90.1290.10,Superfamily_domains:SSF75399	.	.	ENSP00000301607	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Pro91Thr,ENST00000589231,;EVPL,missense_variant,p.Pro2034Thr,ENST00000586740,;EVPL,missense_variant,p.Pro2012Thr,ENST00000301607,;CDK3,downstream_gene_variant,,ENST00000448471,;CDK3,downstream_gene_variant,,ENST00000588812,;CDK3,downstream_gene_variant,,ENST00000425876,;CDK3,downstream_gene_variant,,ENST00000586261,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;EVPL,downstream_gene_variant,,ENST00000593037,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;	6288	27	52	SUCCESS
TP53	7157	.	GRCh37	17	7578554	7578554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	rs886039483	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	28	0	ENST00000269305.4:c.376T>G	p.Tyr126Asp	p.Y126D	ENST00000269305	NM_001126112.2	126	Tac/Gac	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS11118.1	376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTACTGTA	SITE|p.Y33D|c.97T>G|7,SITE|p.Y126D|c.376T>G|7,SITE|p.Y126D|c.376T>G|10,SITE|p.Y126D|c.376T>G|7,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y126_K132delYSPALNK|c.376_396del21|6,CODON|p.Y126_N131delYSPALN|c.376_393del18|3,CODON|p.Y126*|c.378C>G|3,CODON|p.Y126*|c.378C>G|4,CODON|p.Y126*|c.378C>G|3,CODON|p.Y126*|c.378C>A|4,CODON|p.Y33*|c.99C>G|3,CODON|p.Y126C|c.377A>G|6,CODON|p.Y33C|c.98A>G|6,CODON|p.Y126C|c.377A>G|3,CODON|p.Y126C|c.377A>G|6,CODON|p.Y126C|c.377A>G|9,CODON|p.Y126S|c.377A>C|3,CODON|p.Y126C|c.377A>G|5,BUFFER|p.P128L|c.383C>T|3,BUFFER|p.P128fs*42|c.382delC|3,BUFFER|p.P128S|c.382C>T|7,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S127Y|c.380C>A|10,BUFFER|p.S34F|c.101C>T|11,BUFFER|p.S127F|c.380C>T|4,BUFFER|p.S127F|c.380C>T|33,BUFFER|p.S127F|c.380C>T|3,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S34P|c.100T>C|4,BUFFER|p.S34T|c.100T>A|4,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.S127P|c.379T>C|8,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127T|c.379T>A|10,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.Y126N|c.376T>A|7,BUFFER|p.?|c.97-1G>T|3,BUFFER|p.?|c.376-1G>A|19,BUFFER|p.?|c.376-1G>A|11,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>A|10,BUFFER|p.?|c.376-1G>A|19,BUFFER|p.?|c.376-1G>A|11,BUFFER|p.?|c.97-1G>A|20,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>A|19,BUFFER|p.?|c.376-1G>T|9,BUFFER|p.?|c.376-2A>G|4,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.97-2A>T|3,BUFFER|p.?|c.97-2A>G|10,BUFFER|p.?|c.376-2A>G|17,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-2A>G|6,BUFFER|p.?|c.376-2A>C|4,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-4A>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	CM118879,TP53_g.12364T>A,TP53_g.12364T>G,TP53_g.12364T>C,COSM43900,COSM44380,COSM220783,COSM1480084,COSM1480085,COSM220782,COSM3388356,COSM2744964,COSM220784,COSM1480086	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr126Asp,ENST00000508793,;TP53,missense_variant,p.Tyr126Asp,ENST00000413465,;TP53,missense_variant,p.Tyr126Asp,ENST00000420246,;TP53,missense_variant,p.Tyr126Asp,ENST00000269305,;TP53,missense_variant,p.Tyr126Asp,ENST00000359597,;TP53,missense_variant,p.Tyr33Asp,ENST00000514944,;TP53,missense_variant,p.Tyr126Asp,ENST00000445888,;TP53,missense_variant,p.Tyr126Asp,ENST00000503591,;TP53,missense_variant,p.Tyr126Asp,ENST00000455263,;TP53,splice_region_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	566	28	17	SUCCESS
C17orf99	100141515	.	GRCh37	17	76160461	76160461	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	71	87	0	ENST00000340363.5:c.640+16G>T		p.*214*	ENST00000340363	NM_001163075.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54171.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGATTTC	NONE	.	.	.	.	.	ENSP00000343493	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340363	Transcript	.	.	ENSG00000187997	34490	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ099_HUMAN	C17orf99	HGNC	.	.	UPI000049DE67	SNV	C17orf99,intron_variant,,ENST00000340363,;SYNGR2,upstream_gene_variant,,ENST00000589711,;SYNGR2,upstream_gene_variant,,ENST00000225777,;C17orf99,downstream_gene_variant,,ENST00000586999,;C17orf99,downstream_gene_variant,,ENST00000591995,;SYNGR2,upstream_gene_variant,,ENST00000589168,;SYNGR2,upstream_gene_variant,,ENST00000585591,;SYNGR2,upstream_gene_variant,,ENST00000588282,;SYNGR2,upstream_gene_variant,,ENST00000590201,;C17orf99,non_coding_transcript_exon_variant,,ENST00000451352,;C17orf99,intron_variant,,ENST00000586029,;C17orf99,upstream_gene_variant,,ENST00000586246,;SYNGR2,upstream_gene_variant,,ENST00000589183,;SYNGR2,upstream_gene_variant,,ENST00000591770,;	.	87	171	SUCCESS
DDC8	0	.	GRCh37	17	76886840	76886840	+	synonymous_variant	Silent	SNP	G	G	A	rs571031295	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	431	117	305	0	ENST00000322630.2:c.1746C>T	p.Asp582=	p.D582=	ENST00000322630	NM_001243540.1	582	gaC/gaT	0	.	A:0	.	A:0.0014	.	A	D	protein_coding	YES	CCDS58603.1	1746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGTCGTC	NONE	by1000G	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2	A:0	.	ENSP00000312767	A:0	3/3	.	.	.	.	.	.	.	.	rs571031295	3/3	PASS	ENST00000322630	Transcript	.	A:0.0002	ENSG00000178404	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DDC8_HUMAN	DDC8	Uniprot_gn	.	.	UPI0000071A46	SNV	DDC8,synonymous_variant,p.%3D,ENST00000322630,;TIMP2,intron_variant,,ENST00000536189,;DDC8,intron_variant,,ENST00000586713,;TIMP2,intron_variant,,ENST00000262768,;DDC8,downstream_gene_variant,,ENST00000590267,;DDC8,downstream_gene_variant,,ENST00000587052,;	1912	305	548	SUCCESS
ZNF407	55628	.	GRCh37	18	72346946	72346946	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	96	0	ENST00000299687.5:c.3971G>A	p.Gly1324Asp	p.G1324D	ENST00000299687	NM_017757.2	1324	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS45885.1	3971	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGCCCAG	NONE	.	.	hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402	.	.	ENSP00000299687	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	deleterious(0.02)	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,missense_variant,p.Gly1324Asp,ENST00000309902,;ZNF407,missense_variant,p.Gly1324Asp,ENST00000299687,;ZNF407,missense_variant,p.Gly1324Asp,ENST00000582337,;ZNF407,missense_variant,p.Gly1324Asp,ENST00000577538,;	3971	96	91	SUCCESS
AKAP8L	26993	.	GRCh37	19	15512065	15512065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	12	39	0	ENST00000397410.5:c.712G>A	p.Gly238Ser	p.G238S	ENST00000397410	NM_014371.2	238	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS46005.1	712	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCACCTCGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12190,hmmpanther:PTHR12190:SF4	.	.	ENSP00000380557	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000397410	Transcript	.	.	ENSG00000011243	29857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.907)	.	deleterious(0.03)	.	AKP8L_HUMAN	AKAP8L	HGNC	Q9UF73_HUMAN,B3KMD4_HUMAN	.	UPI0000169486	SNV	AKAP8L,missense_variant,p.Gly238Ser,ENST00000397410,;AKAP8L,missense_variant,p.Gly177Ser,ENST00000595465,;AKAP8L,downstream_gene_variant,,ENST00000595067,;AKAP8L,downstream_gene_variant,,ENST00000600247,;AKAP8L,downstream_gene_variant,,ENST00000596195,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000595136,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000595879,;AKAP8L,downstream_gene_variant,,ENST00000599488,;AKAP8L,upstream_gene_variant,,ENST00000600065,;AKAP8L,downstream_gene_variant,,ENST00000597994,;AKAP8L,missense_variant,p.Gly204Ser,ENST00000609519,;AKAP8L,3_prime_UTR_variant,,ENST00000594594,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000593845,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000594893,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000598292,;AKAP8L,downstream_gene_variant,,ENST00000596213,;AKAP8L,downstream_gene_variant,,ENST00000599137,;AKAP8L,upstream_gene_variant,,ENST00000596750,;AKAP8L,downstream_gene_variant,,ENST00000601147,;AKAP8L,upstream_gene_variant,,ENST00000595087,;	843	39	16	SUCCESS
GRIN2D	2906	.	GRCh37	19	48945208	48945208	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	47	0	ENST00000263269.3:c.2435G>A	p.Gly812Glu	p.G812E	ENST00000263269	NM_000836.2	812	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12719.1	2435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGGATG	NONE	.	.	hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000263269	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.13)	.	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,missense_variant,p.Gly812Glu,ENST00000263269,;GRWD1,upstream_gene_variant,,ENST00000253237,;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,;	2523	47	41	SUCCESS
ZNF808	388558	.	GRCh37	19	53057994	53057994	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775343092	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	76	0	ENST00000359798.4:c.1825G>T	p.Ala609Ser	p.A609S	ENST00000359798	NM_001039886.3	609	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46167.1	1825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGCTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000352846	.	5/5	.	.	.	.	.	.	.	.	rs775343092	5/5	PASS	ENST00000359798	Transcript	.	.	ENSG00000198482	33230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(1)	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,missense_variant,p.Ala609Ser,ENST00000359798,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Ala540Ser,ENST00000487863,;	2005	76	70	SUCCESS
ZNF611	81856	.	GRCh37	19	53209133	53209133	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749883716	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	102	0	ENST00000319783.1:c.1175A>G	p.His392Arg	p.H392R	ENST00000319783	NM_030972.3	392	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12855.1	1175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTATGAATT	BUFFER|p.R390I|c.1169G>T|3	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF233,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000437616	.	6/6	.	.	.	.	.	.	.	.	rs749883716	6/6	PASS	ENST00000543227	Transcript	.	.	ENSG00000213020	28766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	ZN611_HUMAN	ZNF611	HGNC	M0QYR0_HUMAN	.	UPI00001406C1	SNV	ZNF611,missense_variant,p.His323Arg,ENST00000453741,;ZNF611,missense_variant,p.His392Arg,ENST00000543227,;ZNF611,missense_variant,p.His392Arg,ENST00000319783,;ZNF611,missense_variant,p.His323Arg,ENST00000595798,;ZNF611,missense_variant,p.His323Arg,ENST00000602162,;ZNF611,missense_variant,p.His392Arg,ENST00000540744,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	1450	102	99	SUCCESS
LILRP2	79166	.	GRCh37	19	55222131	55222131	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	41	86	0	ENST00000413439.1:n.1658C>T		p.*553*	ENST00000413439				0	.	.	.	.	.	T	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACGCAGA	NONE	.	4054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000583865	Transcript	.	.	ENSG00000266427	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC098784.2	Clone_based_ensembl_gene	.	.	.	SNV	AC098784.2,downstream_gene_variant,,ENST00000583865,;LILRP2,non_coding_transcript_exon_variant,,ENST00000413439,;LILRP2,non_coding_transcript_exon_variant,,ENST00000413572,;	.	86	109	SUCCESS
CTC-444N24.8	0	.	GRCh37	19	57772970	57772970	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs138744456	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	82	0	ENST00000600047.1:n.249G>A		p.*83*	ENST00000600047				0	.	A:0	.	A:0.0014	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGTTTAC	NONE	by1000G	.	.	A:0	.	.	A:0	1/1	.	.	.	.	.	.	.	.	rs138744456	1/1	PASS	ENST00000600047	Transcript	.	A:0.0002	ENSG00000268713	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	CTC-444N24.8	Clone_based_vega_gene	.	.	.	SNV	CTC-444N24.8,non_coding_transcript_exon_variant,,ENST00000600047,;	249	82	74	SUCCESS
C3	718	.	GRCh37	19	6714360	6714360	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	77	0	ENST00000245907.6:c.599+3A>G		p.X200_splice	ENST00000245907	NM_000064.2	200		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32883.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACATACTTG	NONE	.	.	.	.	.	ENSP00000245907	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	LOW	5/40	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,splice_region_variant,,ENST00000245907,;C3,downstream_gene_variant,,ENST00000600744,;C3,upstream_gene_variant,,ENST00000594270,;C3,upstream_gene_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000594936,;	.	78	55	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144852472	144852472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	30	110	0	ENST00000369354.3:c.7027A>G	p.Thr2343Ala	p.T2343A	ENST00000369354		2343	Act/Gct	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55627.1	.	RADIA|MUTECT|MUSE	.	TGGAGTACATG	NONE	.	.	.	.	.	ENSP00000358363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODIFIER	43/43	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.Thr2343Ala,ENST00000369354,;PDE4DIP,missense_variant,p.Thr2479Ala,ENST00000369359,;PDE4DIP,missense_variant,p.Thr2428Ala,ENST00000530740,;PDE4DIP,missense_variant,p.Thr2237Ala,ENST00000313382,;PDE4DIP,intron_variant,,ENST00000369356,;PDE4DIP,downstream_gene_variant,,ENST00000530130,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000531417,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000526182,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000525630,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000460027,;PDE4DIP,downstream_gene_variant,,ENST00000526664,;PDE4DIP,3_prime_UTR_variant,,ENST00000530062,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524688,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000464924,;PDE4DIP,downstream_gene_variant,,ENST00000534367,;PDE4DIP,downstream_gene_variant,,ENST00000533768,;	.	110	155	SUCCESS
SEC22B	9554	.	GRCh37	1	145109670	145109670	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs782005415	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	713	55	565	0	ENST00000453618.1:n.659C>A		p.*220*	ENST00000453618				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CTATTCCTTTA	NONE	byFrequency	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	rs782005415	3/5	PASS	ENST00000453618	Transcript	.	.	ENSG00000223380	10700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SEC22B	HGNC	.	.	.	SNV	SEC22B,non_coding_transcript_exon_variant,,ENST00000453618,;	659	565	769	SUCCESS
ITGA10	8515	.	GRCh37	1	145528004	145528004	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782165178	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	131	105	0	ENST00000369304.3:c.241G>C	p.Ala81Pro	p.A81P	ENST00000369304	NM_003637.3	81	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS918.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGCCCAC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000358310	.	3/30	.	.	.	.	.	.	.	.	rs782165178	3/30	PASS	ENST00000369304	Transcript	.	.	ENSG00000143127	6135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.28)	.	ITA10_HUMAN	ITGA10	HGNC	.	.	UPI000013D8D1	SNV	ITGA10,missense_variant,p.Ala81Pro,ENST00000369304,;ITGA10,intron_variant,,ENST00000538811,;ITGA10,intron_variant,,ENST00000539363,;PEX11B,downstream_gene_variant,,ENST00000369306,;PEX11B,downstream_gene_variant,,ENST00000537888,;PEX11B,downstream_gene_variant,,ENST00000428634,;ITGA10,upstream_gene_variant,,ENST00000481236,;ITGA10,non_coding_transcript_exon_variant,,ENST00000468261,;	416	105	209	SUCCESS
CHD1L	9557	.	GRCh37	1	146714372	146714372	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1447633273	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	36	0	ENST00000369258.4:c.19A>G	p.Thr7Ala	p.T7A	ENST00000369258	NM_001256336.1	7	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS927.1	19	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCGCTACTAGC	NONE	.	.	.	.	.	ENSP00000358262	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000369258	Transcript	.	.	ENSG00000131778	1916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	CHD1L_HUMAN	CHD1L	HGNC	B5MDZ7_HUMAN	.	UPI000020566F	SNV	CHD1L,missense_variant,p.Thr7Ala,ENST00000369259,;CHD1L,missense_variant,p.Thr7Ala,ENST00000369258,;CHD1L,missense_variant,p.Thr7Ala,ENST00000431239,;CHD1L,5_prime_UTR_variant,,ENST00000361293,;CHD1L,non_coding_transcript_exon_variant,,ENST00000488864,;CHD1L,non_coding_transcript_exon_variant,,ENST00000467213,;RP11-337C18.10,intron_variant,,ENST00000606856,;CHD1L,upstream_gene_variant,,ENST00000492728,;FMO5,intron_variant,,ENST00000527849,;	39	36	38	SUCCESS
KIAA0907	0	.	GRCh37	1	155899509	155899509	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs771516482	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	61	124	0	ENST00000368321.3:c.378A>C	p.Gln126His	p.Q126H	ENST00000368321	NM_014949.2	126	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS30885.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCTTGAGT	NONE	.	.	hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791	.	.	ENSP00000357304	.	3/14	.	.	.	.	.	.	.	.	rs771516482	3/14	PASS	ENST00000368321	Transcript	.	.	ENSG00000132680	29145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	K0907_HUMAN	KIAA0907	HGNC	.	.	UPI00001A36E0	SNV	KIAA0907,missense_variant,p.Gln126His,ENST00000368320,;KIAA0907,missense_variant,p.Gln126His,ENST00000368319,;KIAA0907,missense_variant,p.Gln126His,ENST00000368321,;SCARNA4,upstream_gene_variant,,ENST00000516999,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000482337,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000466713,;KIAA0907,downstream_gene_variant,,ENST00000491599,;KIAA0907,upstream_gene_variant,,ENST00000478002,;	402	124	197	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155931469	155931469	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs576936245	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	27	0	ENST00000361247.4:c.1451C>A	p.Ala484Glu	p.A484E	ENST00000361247	NM_001162384.1	484	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS53376.1	1451	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCGCTGTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000354837	.	11/22	.	.	.	.	.	.	.	.	rs576936245,COSM897083	11/22	PASS	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.807)	.	deleterious(0.01)	0,1	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	SNV	ARHGEF2,missense_variant,p.Ala484Glu,ENST00000361247,;ARHGEF2,missense_variant,p.Ala485Glu,ENST00000368315,;ARHGEF2,missense_variant,p.Ala456Glu,ENST00000313695,;ARHGEF2,missense_variant,p.Ala456Glu,ENST00000368316,;ARHGEF2,missense_variant,p.Ala483Glu,ENST00000313667,;ARHGEF2,missense_variant,p.Ala529Glu,ENST00000462460,;ARHGEF2,downstream_gene_variant,,ENST00000471589,;ARHGEF2,downstream_gene_variant,,ENST00000497907,;ARHGEF2,downstream_gene_variant,,ENST00000609707,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000474428,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000476273,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000470975,;ARHGEF2,downstream_gene_variant,,ENST00000470874,;ARHGEF2,downstream_gene_variant,,ENST00000608543,;	1551	27	35	SUCCESS
SSR2	6746	.	GRCh37	1	155988138	155988138	+	synonymous_variant	Silent	SNP	T	T	C	rs1452078676	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	41	0	ENST00000295702.4:c.177A>G	p.Leu59=	p.L59=	ENST00000295702	NM_003145.3	59	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1126.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATAGTTC	NONE	.	.	hmmpanther:PTHR12861,Pfam_domain:PF05753,PIRSF_domain:PIRSF016400	.	.	ENSP00000295702	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000295702	Transcript	.	.	ENSG00000163479	11324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSRB_HUMAN	SSR2	HGNC	E9PQI4_HUMAN,E9PQ05_HUMAN,B4DUJ9_HUMAN	.	UPI0000136002	SNV	SSR2,synonymous_variant,p.%3D,ENST00000531917,;SSR2,synonymous_variant,p.%3D,ENST00000295702,;SSR2,synonymous_variant,p.%3D,ENST00000526212,;SSR2,synonymous_variant,p.%3D,ENST00000480567,;SSR2,synonymous_variant,p.%3D,ENST00000529008,;SSR2,intron_variant,,ENST00000496742,;SSR2,synonymous_variant,p.%3D,ENST00000531790,;SSR2,synonymous_variant,p.%3D,ENST00000474377,;SSR2,synonymous_variant,p.%3D,ENST00000466905,;SSR2,3_prime_UTR_variant,,ENST00000473699,;SSR2,non_coding_transcript_exon_variant,,ENST00000484320,;SSR2,non_coding_transcript_exon_variant,,ENST00000488179,;SSR2,non_coding_transcript_exon_variant,,ENST00000532074,;SSR2,non_coding_transcript_exon_variant,,ENST00000480176,;SSR2,non_coding_transcript_exon_variant,,ENST00000368311,;SSR2,non_coding_transcript_exon_variant,,ENST00000472898,;SSR2,downstream_gene_variant,,ENST00000467041,;	249	41	85	SUCCESS
NES	10763	.	GRCh37	1	156640645	156640645	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771381060	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	35	104	0	ENST00000368223.3:c.3335G>T	p.Gly1112Val	p.G1112V	ENST00000368223	NM_006617.1	1112	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1151.1	3335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCCTGGG	NONE	byFrequency	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239,Low_complexity_(Seg):seg	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	rs771381060	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.777)	.	deleterious(0)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Gly1112Val,ENST00000368223,;	3468	104	125	SUCCESS
OR10R2	343406	.	GRCh37	1	158450632	158450632	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	24	77	0	ENST00000368152.1:c.965G>T	p.Arg322Ile	p.R322I	ENST00000368152	NM_001004472.1	322	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS30898.1	965	MUTECT|MUSE	.	TATCAGAAAAG	NONE	.	.	hmmpanther:PTHR26451:SF42,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000357134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368152	Transcript	.	.	ENSG00000198965	14820	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.602)	.	tolerated(0.06)	.	O10R2_HUMAN	OR10R2	HGNC	.	.	UPI000004CA1C	SNV	OR10R2,missense_variant,p.Arg322Ile,ENST00000368152,;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	965	77	98	SUCCESS
DDR2	4921	.	GRCh37	1	162731029	162731029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	64	172	0	ENST00000367921.3:c.884G>T	p.Gly295Val	p.G295V	ENST00000367921	NM_006182.2	295	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1241.1	884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGTGTGA	NONE	.	.	hmmpanther:PTHR24416:SF297,hmmpanther:PTHR24416	.	.	ENSP00000356899	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000367922	Transcript	.	.	ENSG00000162733	2731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0)	.	DDR2_HUMAN	DDR2	HGNC	Q5T245_HUMAN,Q5T244_HUMAN	.	UPI000013E1B4	SNV	DDR2,missense_variant,p.Gly295Val,ENST00000367921,;DDR2,missense_variant,p.Gly295Val,ENST00000367922,;	1322	172	280	SUCCESS
PBX1	5087	.	GRCh37	1	164768965	164768965	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769833066	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	62	103	0	ENST00000420696.2:c.540G>T	p.Met180Ile	p.M180I	ENST00000420696	NM_002585.3	180	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1246.1	540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGAATCT	NONE	.	.	Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000405890	.	4/9	.	.	.	.	.	.	.	.	rs769833066	4/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,missense_variant,p.Met108Ile,ENST00000559578,;PBX1,missense_variant,p.Met180Ile,ENST00000540236,;PBX1,missense_variant,p.Met180Ile,ENST00000559240,;PBX1,missense_variant,p.Met75Ile,ENST00000560641,;PBX1,missense_variant,p.Met180Ile,ENST00000367897,;PBX1,missense_variant,p.Met75Ile,ENST00000558837,;PBX1,missense_variant,p.Met180Ile,ENST00000420696,;PBX1,missense_variant,p.Met75Ile,ENST00000559560,;PBX1,missense_variant,p.Met75Ile,ENST00000540246,;PBX1,missense_variant,p.Met75Ile,ENST00000482110,;PBX1,missense_variant,p.Met180Ile,ENST00000401534,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;	728	103	191	SUCCESS
MAEL	84944	.	GRCh37	1	166974345	166974345	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	259	93	241	0	ENST00000367872.4:c.681G>A	p.Leu227=	p.L227=	ENST00000367872	NM_032858.1	227	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1257.1	681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGAAGCA	NONE	.	.	hmmpanther:PTHR21358,hmmpanther:PTHR21358:SF3,Pfam_domain:PF13017	.	.	ENSP00000356846	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000367872	Transcript	.	.	ENSG00000143194	25929	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAEL_HUMAN	MAEL	HGNC	E9JVC4_HUMAN	.	UPI0000042202	SNV	MAEL,synonymous_variant,p.%3D,ENST00000447624,;MAEL,synonymous_variant,p.%3D,ENST00000367870,;MAEL,synonymous_variant,p.%3D,ENST00000367872,;RNA5SP65,upstream_gene_variant,,ENST00000363166,;MAEL,non_coding_transcript_exon_variant,,ENST00000491055,;MAEL,non_coding_transcript_exon_variant,,ENST00000487826,;	925	241	352	SUCCESS
SUCO	51430	.	GRCh37	1	172557990	172557990	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	69	158	0	ENST00000263688.3:c.1749G>C	p.Glu583Asp	p.E583D	ENST00000263688	NM_014283.3	583	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS1303.1	1749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGGAGGA	NONE	.	.	hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	tolerated(0.1)	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,missense_variant,p.Glu546Asp,ENST00000610051,;SUCO,missense_variant,p.Glu735Asp,ENST00000608151,;SUCO,missense_variant,p.Glu734Asp,ENST00000367723,;SUCO,missense_variant,p.Glu583Asp,ENST00000263688,;	1968	158	238	SUCCESS
TEX35	84066	.	GRCh37	1	178489807	178489807	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	77	0	ENST00000319416.2:c.342-1G>C		p.X114_splice	ENST00000319416	NM_032126.4	114		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1323.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGTCCCC	NONE	.	.	.	.	.	ENSP00000323795	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319416	Transcript	.	.	ENSG00000240021	25366	.	.	HIGH	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX35_HUMAN	TEX35	HGNC	.	.	UPI00001405CF	SNV	TEX35,splice_acceptor_variant,,ENST00000367643,;TEX35,splice_acceptor_variant,,ENST00000319416,;TEX35,splice_acceptor_variant,,ENST00000258298,;TEX35,splice_acceptor_variant,,ENST00000367641,;TEX35,splice_acceptor_variant,,ENST00000367639,;TEX35,3_prime_UTR_variant,,ENST00000367642,;TEX35,upstream_gene_variant,,ENST00000442872,;TEX35,splice_acceptor_variant,,ENST00000419909,;	.	77	97	SUCCESS
RGSL1	353299	.	GRCh37	1	182443063	182443063	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	60	108	0	ENST00000294854.8:c.817G>T	p.Asp273Tyr	p.D273Y	ENST00000294854	NM_001137669.1	273	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS58049.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGATGCT	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845	.	.	ENSP00000457748	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.434)	.	deleterious(0.01)	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,missense_variant,p.Asp273Tyr,ENST00000294854,;RGSL1,missense_variant,p.Asp308Tyr,ENST00000542961,;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Asp308Tyr,ENST00000443996,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000416676,;RGSL1,upstream_gene_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000444367,;	837	108	184	SUCCESS
LAMC1	3915	.	GRCh37	1	183106886	183106886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	344	137	308	0	ENST00000258341.4:c.4397A>G	p.Lys1466Arg	p.K1466R	ENST00000258341	NM_002293.3	1466	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1351.1	4397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAAGCAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574,Superfamily_domains:SSF57997	.	.	ENSP00000258341	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,missense_variant,p.Lys1466Arg,ENST00000258341,;RP11-181K3.4,downstream_gene_variant,,ENST00000457852,;LAMC1,non_coding_transcript_exon_variant,,ENST00000495918,;LAMC1,downstream_gene_variant,,ENST00000478064,;	4654	308	481	SUCCESS
HMCN1	83872	.	GRCh37	1	185950141	185950141	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	45	124	0	ENST00000271588.4:c.2598T>G	p.Ile866Met	p.I866M	ENST00000271588	NM_031935.2	866	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS30956.1	2598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTTGTGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	17/107	.	.	.	.	.	.	.	.	.	17/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ile866Met,ENST00000367492,;HMCN1,missense_variant,p.Ile866Met,ENST00000271588,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,downstream_gene_variant,,ENST00000493413,;	2827	124	181	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204408086	204408086	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	67	0	ENST00000367187.3:c.3493C>G	p.Pro1165Ala	p.P1165A	ENST00000367187	NM_002646.3	1165	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS1446.1	3493	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGGTTGT	NONE	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF30,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000356155	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.07)	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,missense_variant,p.Pro1165Ala,ENST00000367187,;PIK3C2B,missense_variant,p.Pro1137Ala,ENST00000424712,;RP11-739N20.2,downstream_gene_variant,,ENST00000443515,;	4050	67	95	SUCCESS
DSTYK	25778	.	GRCh37	1	205180511	205180511	+	synonymous_variant	Silent	SNP	G	G	A	rs932143976	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	24	0	ENST00000367162.3:c.153C>T	p.Phe51=	p.F51=	ENST00000367162	NM_015375.2	51	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS1451.1	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAGAACTT	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54	.	.	ENSP00000356130	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000367162	Transcript	.	.	ENSG00000133059	29043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUSTY_HUMAN	DSTYK	HGNC	.	.	UPI00001D7D39	SNV	DSTYK,synonymous_variant,p.%3D,ENST00000367162,;DSTYK,synonymous_variant,p.%3D,ENST00000367161,;DSTYK,synonymous_variant,p.%3D,ENST00000367160,;	184	24	27	SUCCESS
USP48	84196	.	GRCh37	1	22016544	22016544	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	93	261	0	ENST00000308271.9:c.2932G>A	p.Asp978Asn	p.D978N	ENST00000308271	NM_032236.5	978	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS30623.1	2932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCAATTG	NONE	.	.	PROSITE_profiles:PS50053,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	.	.	ENSP00000309262	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.26)	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,missense_variant,p.Asp990Asn,ENST00000529637,;USP48,missense_variant,p.Asp464Asn,ENST00000374732,;USP48,missense_variant,p.Asp978Asn,ENST00000308271,;USP48,missense_variant,p.Asp926Asn,ENST00000400301,;USP48,non_coding_transcript_exon_variant,,ENST00000464577,;	3581	261	268	SUCCESS
RYR2	6262	.	GRCh37	1	237580423	237580423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1163526442	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	59	126	0	ENST00000366574.2:c.848C>T	p.Ala283Val	p.A283V	ENST00000366574	NM_001035.2	283	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS55691.1	848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGCGTAAG	BUFFER|p.?|c.848+1G>A|3	.	.	Prints_domain:PR00795,Superfamily_domains:SSF82109,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	11/105	.	.	.	.	.	.	.	.	.	11/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ala267Val,ENST00000542537,;RYR2,missense_variant,p.Ala283Val,ENST00000366574,;RYR2,missense_variant,p.Ala281Val,ENST00000360064,;	1165	126	155	SUCCESS
RYR2	6262	.	GRCh37	1	237972285	237972285	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1558462911	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	118	302	0	ENST00000366574.2:c.14383A>G	p.Lys4795Glu	p.K4795E	ENST00000366574	NM_001035.2	4795	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS55691.1	14383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATAAAAGT	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	100/105	.	.	.	.	.	.	.	.	.	100/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Lys4779Glu,ENST00000542537,;RYR2,missense_variant,p.Lys4795Glu,ENST00000366574,;RYR2,missense_variant,p.Lys4801Glu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	14700	302	278	SUCCESS
OR2T34	127068	.	GRCh37	1	248737900	248737900	+	synonymous_variant	Silent	SNP	G	G	A	rs1012308781	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	100	347	0	ENST00000328782.2:c.159C>T	p.Leu53=	p.L53=	ENST00000328782	NM_001001821.1	53	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31120.1	159	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGAGGAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330904	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328782	Transcript	.	.	ENSG00000183310	31256	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O2T34_HUMAN	OR2T34	HGNC	.	.	UPI0000061ED4	SNV	OR2T34,synonymous_variant,p.%3D,ENST00000328782,;	181	347	338	SUCCESS
MAP3K6	9064	.	GRCh37	1	27687685	27687685	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768560281	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	29	0	ENST00000357582.2:c.1795G>A	p.Val599Ile	p.V599I	ENST00000357582		599	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS299.1	1795	RADIA|MUTECT|VARSCANS	.	CTGGACGTCCT	NONE	byFrequency	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF371	.	.	ENSP00000419591	.	14/30	.	.	.	.	.	.	.	.	rs768560281	14/30	PASS	ENST00000493901	Transcript	.	.	ENSG00000142733	6858	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.047)	.	deleterious(0.01)	.	M3K6_HUMAN	MAP3K6	HGNC	Q32MQ5_HUMAN	.	UPI0000205587	SNV	MAP3K6,missense_variant,p.Val591Ile,ENST00000374040,;MAP3K6,missense_variant,p.Val599Ile,ENST00000357582,;MAP3K6,missense_variant,p.Val323Ile,ENST00000472410,;MAP3K6,missense_variant,p.Val599Ile,ENST00000493901,;MAP3K6,upstream_gene_variant,,ENST00000486046,;MAP3K6,upstream_gene_variant,,ENST00000470890,;MAP3K6,upstream_gene_variant,,ENST00000476509,;MAP3K6,upstream_gene_variant,,ENST00000495230,;	2035	29	38	SUCCESS
YIPF1	54432	.	GRCh37	1	54348948	54348948	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	35	212	0	ENST00000072644.1:c.33A>T	p.Glu11Asp	p.E11D	ENST00000072644	NM_018982.4	11	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS584.1	33	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATTCTGA	NONE	.	.	hmmpanther:PTHR12822:SF4,hmmpanther:PTHR12822	.	.	ENSP00000072644	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000072644	Transcript	.	.	ENSG00000058799	25231	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	deleterious(0.04)	.	YIPF1_HUMAN	YIPF1	HGNC	.	.	UPI000006FF6D	SNV	YIPF1,missense_variant,p.Glu11Asp,ENST00000072644,;YIPF1,missense_variant,p.Glu36Asp,ENST00000539954,;YIPF1,missense_variant,p.Glu11Asp,ENST00000412288,;YIPF1,splice_region_variant,,ENST00000371399,;YIPF1,splice_region_variant,,ENST00000472983,;YIPF1,splice_region_variant,,ENST00000480151,;YIPF1,splice_region_variant,,ENST00000465897,;YIPF1,intron_variant,,ENST00000469457,;YIPF1,missense_variant,p.Glu11Asp,ENST00000464950,;	370	213	210	SUCCESS
PARS2	25973	.	GRCh37	1	55223846	55223846	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	59	142	0	ENST00000371279.3:c.989G>A	p.Gly330Asp	p.G330D	ENST00000371279	NM_152268.3	330	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS597.1	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGCCACAG	NONE	.	.	PROSITE_profiles:PS50862,hmmpanther:PTHR11451:SF3,hmmpanther:PTHR11451,Gene3D:3.30.930.10,Superfamily_domains:SSF55681	.	.	ENSP00000360327	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371279	Transcript	.	.	ENSG00000162396	30563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.743)	.	deleterious(0.05)	.	SYPM_HUMAN	PARS2	HGNC	.	.	UPI00000492D2	SNV	PARS2,missense_variant,p.Gly330Asp,ENST00000371279,;	1072	142	146	SUCCESS
MCOLN3	55283	.	GRCh37	1	85488130	85488130	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	81	106	0	ENST00000370589.2:c.1096-47T>C		p.*366*	ENST00000370589	NM_018298.10			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS701.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCATTTGG	NONE	.	.	.	.	.	ENSP00000359621	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370589	Transcript	.	.	ENSG00000055732	13358	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCLN3_HUMAN	MCOLN3	HGNC	.	.	UPI0000073A4B	SNV	MCOLN3,intron_variant,,ENST00000341115,;WDR63,intron_variant,,ENST00000370596,;MCOLN3,intron_variant,,ENST00000370589,;MCOLN3,downstream_gene_variant,,ENST00000370587,;MCOLN3,non_coding_transcript_exon_variant,,ENST00000474447,;MCOLN3,downstream_gene_variant,,ENST00000475312,;MCOLN3,downstream_gene_variant,,ENST00000490600,;	.	106	136	SUCCESS
NINL	22981	.	GRCh37	20	25457369	25457369	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	29	0	ENST00000278886.6:c.2558G>A	p.Cys853Tyr	p.C853Y	ENST00000278886	NM_025176.4	853	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS33452.1	2558	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCACAGCCC	NONE	.	.	hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12	.	.	ENSP00000278886	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000278886	Transcript	.	.	ENSG00000101004	29163	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	NINL_HUMAN	NINL	HGNC	.	.	UPI0000206B64	SNV	NINL,missense_variant,p.Cys853Tyr,ENST00000278886,;NINL,intron_variant,,ENST00000336104,;NINL,intron_variant,,ENST00000422516,;	2632	29	35	SUCCESS
BPIFA1	51297	.	GRCh37	20	31825880	31825880	+	synonymous_variant	Silent	SNP	G	G	T	rs767007833	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	35	89	0	ENST00000354297.4:c.180G>T	p.Leu60=	p.L60=	ENST00000354297	NM_130852.2	60	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13217.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGTCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Pfam_domain:PF01273	.	.	ENSP00000346251	.	3/9	.	.	.	.	.	.	.	.	rs767007833	3/9	PASS	ENST00000354297	Transcript	.	.	ENSG00000198183	15749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIA1_HUMAN	BPIFA1	HGNC	A6XMV5_HUMAN	.	UPI0000048F11	SNV	BPIFA1,synonymous_variant,p.%3D,ENST00000375413,;BPIFA1,synonymous_variant,p.%3D,ENST00000375422,;BPIFA1,synonymous_variant,p.%3D,ENST00000354297,;AL121901.1,downstream_gene_variant,,ENST00000601172,;	251	89	88	SUCCESS
PREX1	57580	.	GRCh37	20	47269916	47269916	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371398821	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	30	0	ENST00000371941.3:c.2329C>T	p.Arg777Trp	p.R777W	ENST00000371941	NM_020820.3	777	Cgg/Tgg	0	A:0.0002	.	.	.	.	A	R/W	protein_coding	YES	CCDS13410.1	2329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGACTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,SMART_domains:SM00228	.	A:0	ENSP00000361009	.	20/40	.	.	.	.	.	.	.	.	rs371398821	20/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.453)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Arg777Trp,ENST00000396220,;PREX1,missense_variant,p.Arg777Trp,ENST00000371941,;PREX1,missense_variant,p.Arg99Trp,ENST00000482556,;	2352	30	50	SUCCESS
PCNA	5111	.	GRCh37	20	5096123	5096123	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	96	217	0	ENST00000379143.5:c.678A>G	p.Thr226=	p.T226=	ENST00000379143	NM_182649.1	226	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS13087.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTGTCAC	NONE	.	.	HAMAP:MF_00317,hmmpanther:PTHR11352,Pfam_domain:PF02747,Gene3D:3.70.10.10,TIGRFAM_domain:TIGR00590,Superfamily_domains:SSF55979	.	.	ENSP00000368458	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000379160	Transcript	.	.	ENSG00000132646	8729	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCNA_HUMAN	PCNA	HGNC	.	.	UPI0000000AAB	SNV	PCNA,synonymous_variant,p.%3D,ENST00000379143,;PCNA,synonymous_variant,p.%3D,ENST00000379160,;TMEM230,upstream_gene_variant,,ENST00000379286,;TMEM230,upstream_gene_variant,,ENST00000379283,;TMEM230,upstream_gene_variant,,ENST00000379277,;TMEM230,upstream_gene_variant,,ENST00000379299,;TMEM230,upstream_gene_variant,,ENST00000342308,;TMEM230,upstream_gene_variant,,ENST00000202834,;TMEM230,upstream_gene_variant,,ENST00000379279,;TMEM230,upstream_gene_variant,,ENST00000379276,;Y_RNA,upstream_gene_variant,,ENST00000516558,;TMEM230,upstream_gene_variant,,ENST00000492419,;	921	217	220	SUCCESS
CABLES2	81928	.	GRCh37	20	60968622	60968622	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	51	119	0	ENST00000279101.5:c.754C>A	p.Leu252Met	p.L252M	ENST00000279101	NM_031215.2	252	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS33503.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGGCGT	NONE	.	.	hmmpanther:PTHR22896:SF3,hmmpanther:PTHR22896,PIRSF_domain:PIRSF025798	.	.	ENSP00000279101	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000279101	Transcript	.	.	ENSG00000149679	16143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	.	deleterious(0)	.	CABL2_HUMAN	CABLES2	HGNC	.	.	UPI00001AEA34	SNV	CABLES2,missense_variant,p.Leu252Met,ENST00000279101,;CABLES2,missense_variant,p.Leu46Met,ENST00000453274,;	763	119	111	SUCCESS
GMEB2	26205	.	GRCh37	20	62250764	62250764	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	34	0	ENST00000266068.1:c.-14C>G		p.*5*	ENST00000266068				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13528.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGGGACG	NONE	.	.	.	.	.	ENSP00000266068	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000266068	Transcript	.	.	ENSG00000101216	4371	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GMEB2_HUMAN	GMEB2	HGNC	Q659E7_HUMAN,Q5JTV1_HUMAN	.	UPI000012B8AD	SNV	GMEB2,5_prime_UTR_variant,,ENST00000266068,;GMEB2,5_prime_UTR_variant,,ENST00000370077,;	466	34	34	SUCCESS
GART	2618	.	GRCh37	21	34876612	34876612	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	32	97	0	ENST00000381815.4:c.2852A>T	p.Asp951Val	p.D951V	ENST00000381815	NM_000819.4	951	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS13627.1	2852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATCCACA	NONE	.	.	hmmpanther:PTHR10520,hmmpanther:PTHR10520:SF10,PROSITE_patterns:PS00373,TIGRFAM_domain:TIGR00639,Pfam_domain:PF00551,Gene3D:3.40.50.170,Superfamily_domains:SSF53328	.	.	ENSP00000371253	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000381831	Transcript	.	.	ENSG00000159131	4163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PUR2_HUMAN	GART	HGNC	Q71VH3_HUMAN,C9JZG2_HUMAN,C9JTV6_HUMAN,C9JKQ7_HUMAN,C9JBJ1_HUMAN,B4DJ93_HUMAN	.	UPI0000132A2A	SNV	GART,missense_variant,p.Asp951Val,ENST00000381831,;GART,missense_variant,p.Asp951Val,ENST00000381815,;GART,missense_variant,p.Asp503Val,ENST00000543717,;GART,missense_variant,p.Asp951Val,ENST00000381839,;GART,3_prime_UTR_variant,,ENST00000424203,;GART,downstream_gene_variant,,ENST00000487155,;GART,downstream_gene_variant,,ENST00000482663,;	3116	97	93	SUCCESS
KRTAP10-6	386674	.	GRCh37	21	46011435	46011435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	112	201	0	ENST00000400368.1:c.931G>T	p.Val311Leu	p.V311L	ENST00000400368	NM_198688.2	311	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42959.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACACAGGGT	NONE	.	.	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18,Pfam_domain:PF13885	.	.	ENSP00000383219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400368	Transcript	.	.	ENSG00000188155	20523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0.03)	.	KR106_HUMAN	KRTAP10-6	HGNC	.	.	UPI0000E5A408	SNV	KRTAP10-6,missense_variant,p.Val311Leu,ENST00000400368,;TSPEAR,intron_variant,,ENST00000323084,;	952	201	276	SUCCESS
POFUT2	23275	.	GRCh37	21	46686257	46686257	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	19	0	ENST00000349485.5:c.1137-707C>T		p.*379*	ENST00000349485	NM_133635.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13719.1	.	RADIA|MUTECT|MUSE	.	GGGGTGCAGCA	NONE	.	.	.	.	.	ENSP00000339613	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000349485	Transcript	.	.	ENSG00000186866	14683	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OFUT2_HUMAN	POFUT2	HGNC	B4DNV6_HUMAN	.	UPI000013E77F	SNV	POFUT2,3_prime_UTR_variant,,ENST00000331343,;POFUT2,intron_variant,,ENST00000349485,;POFUT2,downstream_gene_variant,,ENST00000451615,;POFUT2,non_coding_transcript_exon_variant,,ENST00000485190,;POFUT2,intron_variant,,ENST00000471540,;POFUT2,intron_variant,,ENST00000460932,;POFUT2,downstream_gene_variant,,ENST00000493524,;POFUT2,downstream_gene_variant,,ENST00000468360,;POFUT2,downstream_gene_variant,,ENST00000463917,;POFUT2,intron_variant,,ENST00000334538,;	.	19	10	SUCCESS
MICAL3	57553	.	GRCh37	22	18273818	18273818	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	48	0	ENST00000441493.2:c.5770G>A	p.Glu1924Lys	p.E1924K	ENST00000441493	NM_015241.2	1924	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46659.1	5770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218,Pfam_domain:PF12130	.	.	ENSP00000416015	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,missense_variant,p.Glu235Lys,ENST00000577821,;MICAL3,missense_variant,p.Glu1924Lys,ENST00000441493,;MICAL3,downstream_gene_variant,,ENST00000579997,;MICAL3,non_coding_transcript_exon_variant,,ENST00000580469,;MICAL3,non_coding_transcript_exon_variant,,ENST00000252134,;XXbac-B461K10.4,non_coding_transcript_exon_variant,,ENST00000476405,;	6123	48	45	SUCCESS
MYO18B	84700	.	GRCh37	22	26423608	26423608	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	62	0	ENST00000536101.1:c.7668T>C	p.Asp2556=	p.D2556=	ENST00000536101		2556	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS54507.1	7668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGATGTTGC	NONE	.	.	.	.	.	ENSP00000334563	.	43/44	.	.	.	.	.	.	.	.	.	43/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000543971,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,synonymous_variant,p.%3D,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	7918	62	76	SUCCESS
SEZ6L	23544	.	GRCh37	22	26706636	26706636	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	69	0	ENST00000248933.6:c.1515G>A		p.X505_splice	ENST00000248933		505	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13833.1	1515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGATGAC	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS01180	.	.	ENSP00000248933	.	7/17	.	.	.	.	.	.	.	.	COSM3552940	7/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,synonymous_variant,p.%3D,ENST00000529632,;SEZ6L,synonymous_variant,p.%3D,ENST00000248933,;SEZ6L,synonymous_variant,p.%3D,ENST00000360929,;SEZ6L,synonymous_variant,p.%3D,ENST00000343706,;SEZ6L,synonymous_variant,p.%3D,ENST00000402979,;SEZ6L,synonymous_variant,p.%3D,ENST00000403121,;SEZ6L,synonymous_variant,p.%3D,ENST00000404234,;	1610	69	94	SUCCESS
TRMU	55687	.	GRCh37	22	46751486	46751486	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	32	53	0	ENST00000290846.4:c.1018+1G>A		p.X340_splice	ENST00000290846	NM_018006.4	340		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14075.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGGTGACT	NONE	.	.	.	.	.	ENSP00000290846	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290846	Transcript	.	.	ENSG00000100416	25481	.	.	HIGH	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTU1_HUMAN	TRMU	HGNC	.	.	UPI00000411E1	SNV	TRMU,splice_donor_variant,,ENST00000290846,;TRMU,splice_donor_variant,,ENST00000381019,;TRMU,downstream_gene_variant,,ENST00000424260,;TRMU,downstream_gene_variant,,ENST00000486620,;TRMU,downstream_gene_variant,,ENST00000463785,;TRMU,downstream_gene_variant,,ENST00000485175,;TRMU,splice_donor_variant,,ENST00000457572,;TRMU,splice_donor_variant,,ENST00000456595,;TRMU,splice_donor_variant,,ENST00000485559,;TRMU,splice_donor_variant,,ENST00000441818,;TRMU,splice_donor_variant,,ENST00000453630,;TRMU,splice_donor_variant,,ENST00000381021,;TRMU,non_coding_transcript_exon_variant,,ENST00000491612,;TRMU,non_coding_transcript_exon_variant,,ENST00000470831,;TRMU,downstream_gene_variant,,ENST00000479648,;	.	53	43	SUCCESS
NPAS2	4862	.	GRCh37	2	101554302	101554302	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	88	147	0	ENST00000335681.5:c.362del	p.Pro121ArgfsTer10	p.P121Rfs*10	ENST00000335681	NM_002518.3	121	Ccg/cg	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS2048.1	361	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTTACCGGTG	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042,TIGRFAM_domain:TIGR00229,Pfam_domain:PF00989,Gene3D:3.30.450.20,SMART_domains:SM00091,Superfamily_domains:SSF55785	.	.	ENSP00000338283	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	deletion	NPAS2,frameshift_variant,p.Pro107del,ENST00000451740,;NPAS2,frameshift_variant,p.Pro186ArgfsTer10,ENST00000427413,;NPAS2,frameshift_variant,p.Pro121ArgfsTer10,ENST00000335681,;NPAS2,frameshift_variant,p.Pro186ArgfsTer10,ENST00000542504,;NPAS2,frameshift_variant,p.Pro111ArgfsTer10,ENST00000448812,;NPAS2,splice_region_variant,,ENST00000486017,;NPAS2,splice_region_variant,,ENST00000492373,;	646	147	251	SUCCESS
TTN	7273	.	GRCh37	2	179475909	179475909	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	69	130	0	ENST00000591111.1:c.46024G>C	p.Val15342Leu	p.V15342L	ENST00000591111		15342	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS59435.1	50947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACTGGGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	270/363	.	.	.	.	.	.	.	.	.	270/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val8043Leu,ENST00000359218,;TTN,missense_variant,p.Val8110Leu,ENST00000342175,;TTN,missense_variant,p.Val14415Leu,ENST00000342992,;TTN,missense_variant,p.Val15342Leu,ENST00000591111,;TTN,missense_variant,p.Val16983Leu,ENST00000589042,;TTN,missense_variant,p.Val7918Leu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;	51172	130	136	SUCCESS
PREB	10113	.	GRCh37	2	27355507	27355507	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1326098137	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	51	137	0	ENST00000260643.2:c.716C>T	p.Thr239Ile	p.T239I	ENST00000260643	NM_013388.4	239	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS1738.1	716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGTGGGT	NONE	.	.	hmmpanther:PTHR23284,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000260643	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000260643	Transcript	.	.	ENSG00000138073	9356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.18)	.	PREB_HUMAN	PREB	HGNC	Q05DB2_HUMAN	.	UPI0000073C9D	SNV	PREB,missense_variant,p.Thr239Ile,ENST00000406567,;PREB,missense_variant,p.Thr239Ile,ENST00000260643,;PREB,upstream_gene_variant,,ENST00000456259,;C2orf53,downstream_gene_variant,,ENST00000335524,;PREB,upstream_gene_variant,,ENST00000430533,;C2orf53,downstream_gene_variant,,ENST00000432962,;ABHD1,downstream_gene_variant,,ENST00000416071,;ABHD1,downstream_gene_variant,,ENST00000316470,;PREB,downstream_gene_variant,,ENST00000416802,;PREB,3_prime_UTR_variant,,ENST00000444452,;PREB,non_coding_transcript_exon_variant,,ENST00000474802,;PREB,non_coding_transcript_exon_variant,,ENST00000468045,;ABHD1,downstream_gene_variant,,ENST00000420647,;ABHD1,downstream_gene_variant,,ENST00000448950,;ABHD1,downstream_gene_variant,,ENST00000489120,;ABHD1,downstream_gene_variant,,ENST00000496739,;PREB,upstream_gene_variant,,ENST00000441451,;	970	137	162	SUCCESS
RBKS	64080	.	GRCh37	2	28065967	28065967	+	synonymous_variant	Silent	SNP	A	A	G	rs745591332	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	41	130	0	ENST00000302188.3:c.481T>C	p.Leu161=	p.L161=	ENST00000302188	NM_022128.1	161	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1762.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAAAGAAG	NONE	.	.	hmmpanther:PTHR10584,hmmpanther:PTHR10584:SF166,Gene3D:3.40.1190.20,Pfam_domain:PF00294,TIGRFAM_domain:TIGR02152,Superfamily_domains:SSF53613	.	.	ENSP00000306817	.	5/8	.	.	.	.	.	.	.	.	rs745591332	5/8	PASS	ENST00000302188	Transcript	.	.	ENSG00000171174	30325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBSK_HUMAN	RBKS	HGNC	Q53SD1_HUMAN	.	UPI000003B021	SNV	RBKS,synonymous_variant,p.%3D,ENST00000302188,;RBKS,synonymous_variant,p.%3D,ENST00000444339,;RBKS,synonymous_variant,p.%3D,ENST00000458185,;RBKS,3_prime_UTR_variant,,ENST00000449378,;MRPL33,intron_variant,,ENST00000448427,;	1234	130	139	SUCCESS
OSBPL11	114885	.	GRCh37	3	125295107	125295107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	66	190	0	ENST00000296220.5:c.592G>T	p.Val198Phe	p.V198F	ENST00000296220	NM_022776.4	198	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS3033.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAACATTAA	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF46	.	.	ENSP00000296220	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000296220	Transcript	.	.	ENSG00000144909	16397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.408)	.	tolerated(0.2)	.	OSB11_HUMAN	OSBPL11	HGNC	Q9GZM0_HUMAN	.	UPI0000130E9C	SNV	OSBPL11,missense_variant,p.Val198Phe,ENST00000296220,;	882	190	178	SUCCESS
PLOD2	5352	.	GRCh37	3	145828234	145828234	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs376517611	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	44	113	0	ENST00000360060.3:c.340T>C	p.Phe114Leu	p.F114L	ENST00000360060	NM_000935.2	114	Ttt/Ctt	0	T:0	.	.	.	.	G	F/L	protein_coding	YES	CCDS3132.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAAGCTGT	NONE	byCluster	.	hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6	.	T:0.0001	ENSP00000282903	.	4/20	.	.	.	.	.	.	.	.	rs376517611	4/20	PASS	ENST00000282903	Transcript	.	.	ENSG00000152952	9082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	deleterious(0.01)	.	PLOD2_HUMAN	PLOD2	HGNC	Q9Y6D3_HUMAN,Q96QU5_HUMAN,Q96AR9_HUMAN,E7ETU9_HUMAN	.	UPI0000049C44	SNV	PLOD2,missense_variant,p.Phe114Leu,ENST00000360060,;PLOD2,missense_variant,p.Phe59Leu,ENST00000494950,;PLOD2,missense_variant,p.Phe86Leu,ENST00000469350,;PLOD2,missense_variant,p.Phe114Leu,ENST00000282903,;PLOD2,splice_region_variant,,ENST00000480704,;	518	113	103	SUCCESS
MLF1	4291	.	GRCh37	3	158322940	158322940	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	106	248	0	ENST00000355893.5:c.756G>C	p.Leu252Phe	p.L252F	ENST00000355893	NM_022443.4	252	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS56286.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTGGGGGA	NONE	.	.	hmmpanther:PTHR13105,hmmpanther:PTHR13105:SF3	.	.	ENSP00000376568	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392822	Transcript	.	.	ENSG00000178053	7125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	MLF1_HUMAN	MLF1	HGNC	C9K0D3_HUMAN,C9JNE5_HUMAN	.	UPI000007134A	SNV	MLF1,missense_variant,p.Leu227Phe,ENST00000484955,;MLF1,missense_variant,p.Leu242Phe,ENST00000478894,;MLF1,missense_variant,p.Leu252Phe,ENST00000355893,;MLF1,missense_variant,p.Leu184Phe,ENST00000469452,;MLF1,missense_variant,p.Leu283Phe,ENST00000392822,;MLF1,missense_variant,p.Leu178Phe,ENST00000491767,;MLF1,missense_variant,p.Leu227Phe,ENST00000482628,;MLF1,missense_variant,p.Leu242Phe,ENST00000471745,;MLF1,missense_variant,p.Leu227Phe,ENST00000359117,;MLF1,downstream_gene_variant,,ENST00000477042,;MLF1,downstream_gene_variant,,ENST00000498592,;MLF1,downstream_gene_variant,,ENST00000466246,;MLF1,non_coding_transcript_exon_variant,,ENST00000497004,;MLF1,downstream_gene_variant,,ENST00000495452,;MTAPP1,downstream_gene_variant,,ENST00000489154,;	1116	248	232	SUCCESS
IL12A	3592	.	GRCh37	3	159708075	159708075	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	31	62	0	ENST00000305579.2:c.240G>T	p.Arg80Ser	p.R80S	ENST00000305579	NM_000882.3	80	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS3187.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGCCGT	NONE	.	.	hmmpanther:PTHR10523,Pfam_domain:PF03039,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000303231	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000305579	Transcript	.	.	ENSG00000168811	5969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.34)	.	IL12A_HUMAN	IL12A	HGNC	Q7LDP2_HUMAN,O60595_HUMAN	.	UPI0000073D3D	SNV	IL12A,missense_variant,p.Arg80Ser,ENST00000466512,;IL12A,missense_variant,p.Arg80Ser,ENST00000480787,;IL12A,missense_variant,p.Arg80Ser,ENST00000305579,;IL12A-AS1,intron_variant,,ENST00000497452,;IL12A,non_coding_transcript_exon_variant,,ENST00000468862,;IL12A,non_coding_transcript_exon_variant,,ENST00000496308,;IL12A,non_coding_transcript_exon_variant,,ENST00000480088,;	547	62	123	SUCCESS
TTC14	151613	.	GRCh37	3	180325533	180325533	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	108	240	0	ENST00000296015.4:c.1272del	p.Lys424AsnfsTer12	p.K424Nfs*12	ENST00000296015	NM_133462.3	424	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS3237.1	1270	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCAGAAACTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000296015	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	deletion	TTC14,frameshift_variant,p.Lys424AsnfsTer12,ENST00000382584,;TTC14,frameshift_variant,p.Lys424AsnfsTer12,ENST00000296015,;TTC14,frameshift_variant,p.Lys424AsnfsTer8,ENST00000412756,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000491380,;TTC14,downstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000489868,;TTC14,downstream_gene_variant,,ENST00000495660,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,frameshift_variant,p.Lys424AsnfsTer8,ENST00000470669,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000462895,;	1402	240	332	SUCCESS
MCCC1	56922	.	GRCh37	3	182756877	182756877	+	synonymous_variant	Silent	SNP	G	G	C	rs774243822	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	76	132	0	ENST00000265594.4:c.1314C>G	p.Val438=	p.V438=	ENST00000265594	NM_020166.3	438	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3241.1	1314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACGACCAG	NONE	byFrequency	.	PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF76,Gene3D:3.30.470.20,Pfam_domain:PF02785,SMART_domains:SM00878,Superfamily_domains:SSF51246	.	.	ENSP00000265594	.	12/19	.	.	.	.	.	.	.	.	rs774243822	12/19	PASS	ENST00000265594	Transcript	.	.	ENSG00000078070	6936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCCA_HUMAN	MCCC1	HGNC	F5GYT8_HUMAN,F2Z3E2_HUMAN,E9PHF7_HUMAN	.	UPI000013D646	SNV	MCCC1,synonymous_variant,p.%3D,ENST00000539926,;MCCC1,synonymous_variant,p.%3D,ENST00000265594,;MCCC1,synonymous_variant,p.%3D,ENST00000476176,;MCCC1,synonymous_variant,p.%3D,ENST00000492597,;MCCC1,upstream_gene_variant,,ENST00000489909,;MCCC1,synonymous_variant,p.%3D,ENST00000497959,;MCCC1,3_prime_UTR_variant,,ENST00000497830,;MCCC1,3_prime_UTR_variant,,ENST00000495767,;	1461	132	168	SUCCESS
CLDN1	9076	.	GRCh37	3	190030689	190030689	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	46	137	0	ENST00000295522.3:c.360C>A	p.Val120=	p.V120=	ENST00000295522	NM_021101.4	120	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3295.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGACAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF92,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000295522	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295522	Transcript	.	.	ENSG00000163347	2032	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD1_HUMAN	CLDN1	HGNC	B4DLC3_HUMAN,A5JSJ9_HUMAN	.	UPI0000046D1E	SNV	CLDN1,synonymous_variant,p.%3D,ENST00000295522,;CLDN1,non_coding_transcript_exon_variant,,ENST00000490800,;	629	137	136	SUCCESS
LRCH3	84859	.	GRCh37	3	197592314	197592314	+	synonymous_variant	Silent	SNP	T	T	C	rs1339289079	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	84	308	0	ENST00000425562.2:c.1737T>C	p.Ala579=	p.A579=	ENST00000425562		579	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3330.1	1737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTCTATT	NONE	.	.	.	.	.	ENSP00000334375	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000334859	Transcript	.	.	ENSG00000186001	28637	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRCH3_HUMAN	LRCH3	HGNC	.	.	UPI000006E903	SNV	LRCH3,synonymous_variant,p.%3D,ENST00000334859,;LRCH3,synonymous_variant,p.%3D,ENST00000452660,;LRCH3,synonymous_variant,p.%3D,ENST00000438796,;LRCH3,synonymous_variant,p.%3D,ENST00000433298,;LRCH3,synonymous_variant,p.%3D,ENST00000441090,;LRCH3,synonymous_variant,p.%3D,ENST00000425562,;LRCH3,synonymous_variant,p.%3D,ENST00000414675,;LRCH3,synonymous_variant,p.%3D,ENST00000536618,;LRCH3,upstream_gene_variant,,ENST00000428136,;LRCH3,non_coding_transcript_exon_variant,,ENST00000481048,;LRCH3,non_coding_transcript_exon_variant,,ENST00000471667,;LRCH3,non_coding_transcript_exon_variant,,ENST00000461674,;LRCH3,non_coding_transcript_exon_variant,,ENST00000483442,;LRCH3,intron_variant,,ENST00000473177,;	1742	308	228	SUCCESS
EOMES	8320	.	GRCh37	3	27758974	27758974	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	62	124	0	ENST00000295743.4:c.1648A>T	p.Ile550Phe	p.I550F	ENST00000295743	NM_005442.3	550	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS2646.1	1648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATGCCAT	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13	.	.	ENSP00000295743	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295743	Transcript	.	.	ENSG00000163508	3372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.816)	.	tolerated(0.07)	.	EOMES_HUMAN	EOMES	HGNC	.	.	UPI000013E29D	SNV	EOMES,missense_variant,p.Ile274Phe,ENST00000537516,;EOMES,missense_variant,p.Ile569Phe,ENST00000449599,;EOMES,missense_variant,p.Ile550Phe,ENST00000295743,;RP11-222K16.2,downstream_gene_variant,,ENST00000606069,;EOMES,downstream_gene_variant,,ENST00000461503,;	1852	124	174	SUCCESS
ZDHHC3	51304	.	GRCh37	3	44968182	44968182	+	stop_retained_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	44	107	0	ENST00000424952.2:c.899G>A	p.Ter300=	p.*300=	ENST00000424952	NM_001135179.1	300	tGa/tAa	0	.	.	.	.	.	T	*	protein_coding	YES	CCDS2724.1	983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCAGACC	NONE	.	.	.	.	.	ENSP00000296127	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000296127	Transcript	.	.	ENSG00000163812	18470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDHC3_HUMAN	ZDHHC3	HGNC	C9JNU5_HUMAN	.	UPI000013C380	SNV	ZDHHC3,stop_retained_variant,p.%3D,ENST00000296127,;ZDHHC3,stop_retained_variant,p.%3D,ENST00000424952,;ZDHHC3,stop_retained_variant,p.%3D,ENST00000342790,;ZDHHC3,intron_variant,,ENST00000443879,;ZDHHC3,intron_variant,,ENST00000339420,;ZDHHC3,downstream_gene_variant,,ENST00000433512,;ZDHHC3,non_coding_transcript_exon_variant,,ENST00000479314,;	1257	107	124	SUCCESS
APPL1	26060	.	GRCh37	3	57283493	57283493	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	58	151	0	ENST00000288266.3:c.969G>T	p.Met323Ile	p.M323I	ENST00000288266	NM_012096.2	323	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS2882.1	969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGGACAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF235,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000288266	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000288266	Transcript	.	.	ENSG00000157500	24035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.24)	.	DP13A_HUMAN	APPL1	HGNC	.	.	UPI00000712DA	SNV	APPL1,missense_variant,p.Met323Ile,ENST00000288266,;APPL1,non_coding_transcript_exon_variant,,ENST00000482800,;APPL1,upstream_gene_variant,,ENST00000464446,;	1116	151	146	SUCCESS
JAGN1	84522	.	GRCh37	3	9932270	9932270	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	29	0	ENST00000307768.4:c.-137C>T		p.*46*	ENST00000307768	NM_032492.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2588.1	.	MUTECT|MUSE	.	GTCCTCCAGAG	NONE	.	.	.	.	.	ENSP00000306106	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000307768	Transcript	.	.	ENSG00000171135	26926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JAGN1_HUMAN	JAGN1	HGNC	.	.	UPI0000072A5A	SNV	JAGN1,5_prime_UTR_variant,,ENST00000307768,;JAGN1,upstream_gene_variant,,ENST00000489724,;	33	29	31	SUCCESS
ADH1C	126	.	GRCh37	4	100266044	100266044	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	90	191	0	ENST00000515683.1:c.542A>G	p.Tyr181Cys	p.Y181C	ENST00000515683	NM_000669.3	181	tAt/tGt	0	.	.	.	.	.	C	Y/C	polymorphic_pseudogene	YES	.	542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCATAACCA	NONE	.	.	.	.	.	ENSP00000426083	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000515683	Transcript	.	.	ENSG00000248144	251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	.	ADH1C	HGNC	.	.	.	SNV	ADH1C,non_coding_transcript_exon_variant,,ENST00000511397,;ADH1C,non_coding_transcript_exon_variant,,ENST00000510055,;ADH1C,downstream_gene_variant,,ENST00000505942,;ADH1C,missense_variant,p.Tyr181Cys,ENST00000515683,;	894	191	129	SUCCESS
CENPE	1062	.	GRCh37	4	104060948	104060948	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	139	392	0	ENST00000265148.3:c.6202A>G	p.Arg2068Gly	p.R2068G	ENST00000265148	NM_001813.2	2068	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS34042.1	6202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTAGCTA	NONE	.	.	hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	38/49	.	.	.	.	.	.	.	.	.	38/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Arg2068Gly,ENST00000265148,;CENPE,intron_variant,,ENST00000380026,;	6292	392	205	SUCCESS
ANK2	287	.	GRCh37	4	114278315	114278315	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	69	163	0	ENST00000357077.4:c.8541A>T	p.Ser2847=	p.S2847=	ENST00000357077	NM_001148.4	2847	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3702.1	8541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCATCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,synonymous_variant,p.%3D,ENST00000264366,;ANK2,synonymous_variant,p.%3D,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;	8594	163	192	SUCCESS
NAA15	80155	.	GRCh37	4	140272693	140272693	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	86	224	0	ENST00000296543.5:c.942A>G	p.Leu314=	p.L314=	ENST00000296543	NM_057175.3	314	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43270.1	942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTAAGGAT	NONE	.	.	PIRSF_domain:PIRSF000422,Pfam_domain:PF12569,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF4	.	.	ENSP00000296543	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000296543	Transcript	1	.	ENSG00000164134	30782	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA15_HUMAN	NAA15	HGNC	.	.	UPI000004B631	SNV	NAA15,synonymous_variant,p.%3D,ENST00000296543,;NAA15,synonymous_variant,p.%3D,ENST00000398947,;NAA15,non_coding_transcript_exon_variant,,ENST00000480277,;NAA15,non_coding_transcript_exon_variant,,ENST00000468029,;	1265	224	191	SUCCESS
ING2	3622	.	GRCh37	4	184431731	184431731	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	68	159	1	ENST00000302327.3:c.469A>G	p.Thr157Ala	p.T157A	ENST00000302327	NM_001564.2	157	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3833.1	469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGACCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10333:SF37,hmmpanther:PTHR10333	.	.	ENSP00000307183	.	2/2	.	.	.	.	.	.	.	.	COSM325550	2/2	PASS	ENST00000302327	Transcript	.	.	ENSG00000168556	6063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.057)	.	deleterious(0.03)	1	ING2_HUMAN	ING2	HGNC	.	.	UPI000003BC86	SNV	ING2,missense_variant,p.Thr117Ala,ENST00000412117,;ING2,missense_variant,p.Thr117Ala,ENST00000434682,;ING2,missense_variant,p.Thr157Ala,ENST00000302327,;	671	160	183	SUCCESS
SORBS2	8470	.	GRCh37	4	186533094	186533094	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs772868673	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	289	18	301	0	ENST00000284776.7:c.2924G>A	p.Trp975Ter	p.W975*	ENST00000284776	NM_021069.4	975	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS59482.1	3224	MUTECT|MUSE	.	CATACCAGTTT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00499	.	.	ENSP00000347852	.	21/24	.	.	.	.	.	.	.	.	rs772868673	21/24	PASS	ENST00000355634	Transcript	.	.	ENSG00000154556	24098	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRBS2_HUMAN	SORBS2	HGNC	C9JZ60_HUMAN,C9JN77_HUMAN,C9JL62_HUMAN,C9JI79_HUMAN,C9JDX2_HUMAN,C9JBR8_HUMAN,C9JBB0_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4Z9_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9J372_HUMAN,C9IZT7_HUMAN,C9IZ89_HUMAN	.	UPI000198C7F0	SNV	SORBS2,stop_gained,p.Trp975Ter,ENST00000431808,;SORBS2,stop_gained,p.Trp566Ter,ENST00000319454,;SORBS2,stop_gained,p.Trp1075Ter,ENST00000355634,;SORBS2,stop_gained,p.Trp975Ter,ENST00000284776,;SORBS2,stop_gained,p.Trp879Ter,ENST00000418609,;SORBS2,stop_gained,p.Trp541Ter,ENST00000393528,;SORBS2,stop_gained,p.Trp536Ter,ENST00000448662,;SORBS2,stop_gained,p.Trp519Ter,ENST00000449407,;SORBS2,stop_gained,p.Trp699Ter,ENST00000437304,;SORBS2,stop_gained,p.Trp606Ter,ENST00000319471,;SORBS2,downstream_gene_variant,,ENST00000451974,;SORBS2,non_coding_transcript_exon_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000480146,;	3938	302	308	SUCCESS
KCTD8	386617	.	GRCh37	4	44176879	44176879	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	89	221	0	ENST00000360029.3:c.1350C>T	p.Ile450=	p.I450=	ENST00000360029	NM_198353.2	450	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3467.1	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGATTTT	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	2/2	.	.	.	.	.	.	.	.	COSM2848187	2/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,synonymous_variant,p.%3D,ENST00000360029,;KCTD8,downstream_gene_variant,,ENST00000515268,;	1634	221	192	SUCCESS
GABRA4	2557	.	GRCh37	4	46967062	46967062	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1190112652	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	350	209	535	0	ENST00000264318.3:c.1059G>T	p.Arg353Ser	p.R353S	ENST00000264318	NM_000809.3	353	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3473.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCTTTT	NONE	.	.	Prints_domain:PR01617,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	.	.	ENSP00000264318	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000264318	Transcript	.	.	ENSG00000109158	4078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	deleterious(0.02)	.	GBRA4_HUMAN	GABRA4	HGNC	.	.	UPI0000074200	SNV	GABRA4,missense_variant,p.Arg353Ser,ENST00000264318,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000508560,;	2042	535	560	SUCCESS
CORIN	10699	.	GRCh37	4	47746441	47746441	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	115	0	ENST00000273857.4:c.777T>G	p.Pro259=	p.P259=	ENST00000273857	NM_006587.3	259	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3477.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGAGGTGA	BUFFER|p.E262K|c.784G>A|4	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR24270,PIRSF_domain:PIRSF036376	.	.	ENSP00000273857	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000273857	Transcript	1	.	ENSG00000145244	19012	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CORIN_HUMAN	CORIN	HGNC	Q8IZR7_HUMAN,E7EQE7_HUMAN	.	UPI0000168657	SNV	CORIN,synonymous_variant,p.%3D,ENST00000508498,;CORIN,synonymous_variant,p.%3D,ENST00000273857,;CORIN,synonymous_variant,p.%3D,ENST00000502252,;CORIN,synonymous_variant,p.%3D,ENST00000505909,;CORIN,synonymous_variant,p.%3D,ENST00000504584,;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;CORIN,non_coding_transcript_exon_variant,,ENST00000502726,;	777	115	114	SUCCESS
SMR3A	26952	.	GRCh37	4	71232505	71232505	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748957378	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	103	193	0	ENST00000226460.4:c.199C>A	p.Leu67Ile	p.L67I	ENST00000226460	NM_012390.3	67	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS34000.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCTTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14179:SF9,hmmpanther:PTHR14179,Pfam_domain:PF15621,Prints_domain:PR01217	.	.	ENSP00000226460	.	3/3	.	.	.	.	.	.	.	.	rs748957378	3/3	PASS	ENST00000226460	Transcript	.	.	ENSG00000109208	19216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.37)	.	SMR3A_HUMAN	SMR3A	HGNC	.	.	UPI000013C8A0	SNV	SMR3A,missense_variant,p.Leu67Ile,ENST00000226460,;SMR3B,upstream_gene_variant,,ENST00000504825,;	295	193	263	SUCCESS
PARM1	25849	.	GRCh37	4	75971384	75971384	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	74	178	1	ENST00000307428.7:c.860A>G	p.Tyr287Cys	p.Y287C	ENST00000307428	NM_015393.3	287	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS47077.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATGGAA	NONE	.	.	.	.	.	ENSP00000370224	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000307428	Transcript	.	.	ENSG00000169116	24536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PARM1_HUMAN	PARM1	HGNC	.	.	UPI000004457B	SNV	PARM1,missense_variant,p.Tyr287Cys,ENST00000307428,;PARM1,missense_variant,p.Tyr45Cys,ENST00000513238,;	1072	179	197	SUCCESS
C4orf26	0	.	GRCh37	4	76489342	76489342	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756454916	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	32	80	0	ENST00000435974.2:c.130C>T	p.Arg44Cys	p.R44C	ENST00000435974	NM_001206981.1	44	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS56334.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTACGCCTC	NONE	.	.	.	.	.	ENSP00000406925	.	3/3	.	.	.	.	.	.	.	.	rs756454916,COSM1540831,COSM3993785,COSM1540830,COSM3993784	3/3	PASS	ENST00000435974	Transcript	1	.	ENSG00000174792	26300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	benign(0.001)	.	deleterious_low_confidence(0.04)	0,1,1,1,1	CD026_HUMAN	C4orf26	HGNC	.	.	UPI0001AE74FF	SNV	C4orf26,missense_variant,p.Arg44Cys,ENST00000435974,;C4orf26,missense_variant,p.Thr29Met,ENST00000311623,;C4orf26,downstream_gene_variant,,ENST00000514064,;C4orf26,3_prime_UTR_variant,,ENST00000511093,;	148	80	65	SUCCESS
ZNF474	133923	.	GRCh37	5	121487810	121487810	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	96	206	1	ENST00000296600.4:c.125C>T	p.Ser42Phe	p.S42F	ENST00000296600	NM_207317.1	42	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4130.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13555,hmmpanther:PTHR13555:SF23	.	.	ENSP00000296600	.	2/2	.	.	.	.	.	.	.	.	COSM168163	2/2	PASS	ENST00000296600	Transcript	.	.	ENSG00000164185	23245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.014)	.	tolerated(0.71)	1	ZN474_HUMAN	ZNF474	HGNC	D6RFM9_HUMAN,D6RCA7_HUMAN	.	UPI0000160642	SNV	ZNF474,missense_variant,p.Ser42Phe,ENST00000504912,;ZNF474,missense_variant,p.Ser42Phe,ENST00000296600,;ZNF474,downstream_gene_variant,,ENST00000505843,;CTC-441N14.2,intron_variant,,ENST00000504829,;CTC-441N14.1,downstream_gene_variant,,ENST00000505209,;ZNF474,intron_variant,,ENST00000514925,;	508	207	214	SUCCESS
SLC27A6	28965	.	GRCh37	5	128368891	128368891	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1331135055	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	143	389	0	ENST00000262462.4:c.1776C>A	p.Tyr592Ter	p.Y592*	ENST00000262462		592	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS4145.1	1776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTACTTCAT	NONE	.	.	hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096	.	.	ENSP00000262462	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,stop_gained,p.Tyr592Ter,ENST00000506176,;SLC27A6,stop_gained,p.Tyr592Ter,ENST00000395266,;SLC27A6,stop_gained,p.Tyr592Ter,ENST00000262462,;	2786	389	382	SUCCESS
SIL1	64374	.	GRCh37	5	138287486	138287486	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	45	0	ENST00000265195.5:c.855A>G	p.Ala285=	p.A285=	ENST00000265195	NM_001037633.1	285	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS4209.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGCAGT	NONE	.	.	hmmpanther:PTHR19316,hmmpanther:PTHR19316:SF6,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000378294	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000394817	Transcript	1	.	ENSG00000120725	24624	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIL1_HUMAN	SIL1	HGNC	D6RIU8_HUMAN,D6RBP7_HUMAN,D6R940_HUMAN	.	UPI000003ED21	SNV	SIL1,synonymous_variant,p.%3D,ENST00000509534,;SIL1,synonymous_variant,p.%3D,ENST00000394817,;SIL1,synonymous_variant,p.%3D,ENST00000265195,;SIL1,downstream_gene_variant,,ENST00000505945,;SIL1,non_coding_transcript_exon_variant,,ENST00000515008,;SIL1,non_coding_transcript_exon_variant,,ENST00000503732,;	995	45	58	SUCCESS
HARS2	23438	.	GRCh37	5	140077173	140077173	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752472621	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	58	156	0	ENST00000230771.3:c.1217G>A	p.Arg406Gln	p.R406Q	ENST00000230771	NM_012208.3	406	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS4238.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGGACTA	NONE	byFrequency	.	PROSITE_profiles:PS50862,hmmpanther:PTHR11476:SF4,hmmpanther:PTHR11476,TIGRFAM_domain:TIGR00442,PIRSF_domain:PIRSF001549	.	.	ENSP00000230771	.	11/13	.	.	.	.	.	.	.	.	rs752472621	11/13	PASS	ENST00000230771	Transcript	1	.	ENSG00000112855	4817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0.02)	.	SYHM_HUMAN	HARS2	HGNC	.	.	UPI00001364C4	SNV	HARS2,missense_variant,p.Arg366Gln,ENST00000435019,;HARS2,missense_variant,p.Arg332Gln,ENST00000437649,;HARS2,missense_variant,p.Arg381Gln,ENST00000508522,;HARS2,missense_variant,p.Arg406Gln,ENST00000230771,;HARS2,missense_variant,p.Arg292Gln,ENST00000432671,;HARS2,missense_variant,p.Arg234Gln,ENST00000448069,;HARS2,downstream_gene_variant,,ENST00000509299,;HARS2,downstream_gene_variant,,ENST00000503873,;ZMAT2,upstream_gene_variant,,ENST00000519913,;ZMAT2,upstream_gene_variant,,ENST00000274712,;HARS2,downstream_gene_variant,,ENST00000502303,;HARS2,downstream_gene_variant,,ENST00000506318,;HARS2,downstream_gene_variant,,ENST00000511913,;HARS2,downstream_gene_variant,,ENST00000513688,;HARS2,downstream_gene_variant,,ENST00000520095,;ZMAT2,upstream_gene_variant,,ENST00000506644,;HARS2,downstream_gene_variant,,ENST00000510104,;HARS2,downstream_gene_variant,,ENST00000513912,;	1440	156	149	SUCCESS
PCDHB11	56125	.	GRCh37	5	140580796	140580796	+	synonymous_variant	Silent	SNP	C	C	T	rs1281698776	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	57	136	0	ENST00000354757.3:c.1449C>T	p.Asn483=	p.N483=	ENST00000354757	NM_018931.2	483	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS4253.1	1449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAACGCCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF91,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000346802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354757	Transcript	.	.	ENSG00000197479	8682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBB_HUMAN	PCDHB11	HGNC	B4DSF7_HUMAN	.	UPI00001273E6	SNV	PCDHB11,synonymous_variant,p.%3D,ENST00000536699,;PCDHB11,synonymous_variant,p.%3D,ENST00000354757,;	1449	136	139	SUCCESS
ARAP3	64411	.	GRCh37	5	141041372	141041372	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	113	0	ENST00000239440.4:c.3014-16T>C		p.*1005*	ENST00000239440	NM_022481.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4266.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGAGGAGG	NONE	.	.	.	.	.	ENSP00000239440	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	MODIFIER	20/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,intron_variant,,ENST00000508305,;ARAP3,intron_variant,,ENST00000239440,;ARAP3,intron_variant,,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	.	113	121	SUCCESS
CDHR2	54825	.	GRCh37	5	176003023	176003023	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	96	1	ENST00000261944.5:c.1031T>C	p.Met344Thr	p.M344T	ENST00000261944	NM_017675.4	344	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS34297.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGGACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF286,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000424565	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000510636	Transcript	.	.	ENSG00000074276	18231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,missense_variant,p.Met344Thr,ENST00000261944,;CDHR2,missense_variant,p.Met344Thr,ENST00000506348,;CDHR2,missense_variant,p.Met344Thr,ENST00000510636,;	1305	97	97	SUCCESS
DBN1	1627	.	GRCh37	5	176887553	176887553	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	59	105	0	ENST00000309007.5:c.835G>A	p.Ala279Thr	p.A279T	ENST00000309007	NM_004395.3	279	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4421.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCCTCCT	BUFFER|p.E280G|c.839A>G|4,BUFFER|p.E278G|c.833A>G|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829	.	.	ENSP00000292385	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Ala279Thr,ENST00000309007,;DBN1,missense_variant,p.Ala11Thr,ENST00000393563,;DBN1,missense_variant,p.Ala281Thr,ENST00000292385,;DBN1,missense_variant,p.Ala278Thr,ENST00000477391,;DBN1,missense_variant,p.Ala279Thr,ENST00000393565,;DBN1,missense_variant,p.Ala11Thr,ENST00000512501,;PRR7,downstream_gene_variant,,ENST00000323249,;PRR7,downstream_gene_variant,,ENST00000510492,;PRR7,downstream_gene_variant,,ENST00000502922,;PRR7,downstream_gene_variant,,ENST00000507881,;DBN1,non_coding_transcript_exon_variant,,ENST00000467054,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;	1451	105	123	SUCCESS
ZFP2	80108	.	GRCh37	5	178358877	178358877	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	33	0	ENST00000361362.2:c.563G>T	p.Cys188Phe	p.C188F	ENST00000361362	NM_030613.2	188	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS4440.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGTAAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF183,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,missense_variant,p.Cys188Phe,ENST00000520301,;ZFP2,missense_variant,p.Cys188Phe,ENST00000503510,;ZFP2,missense_variant,p.Cys188Phe,ENST00000361362,;ZFP2,missense_variant,p.Cys188Phe,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1093	33	43	SUCCESS
CDH18	1016	.	GRCh37	5	19612615	19612615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	163	208	0	ENST00000274170.4:c.739G>T	p.Gly247Trp	p.G247W	ENST00000274170		247	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS3889.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCCTCCAA	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	.	.	ENSP00000425093	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Gly193Trp,ENST00000515257,;CDH18,missense_variant,p.Gly247Trp,ENST00000382275,;CDH18,missense_variant,p.Gly247Trp,ENST00000274170,;CDH18,missense_variant,p.Gly247Trp,ENST00000506372,;CDH18,missense_variant,p.Gly247Trp,ENST00000507958,;CDH18,missense_variant,p.Gly247Trp,ENST00000511273,;CDH18,missense_variant,p.Gly247Trp,ENST00000502796,;	1730	208	272	SUCCESS
CDH9	1007	.	GRCh37	5	26906920	26906920	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	108	161	0	ENST00000231021.4:c.551C>T	p.Thr184Ile	p.T184I	ENST00000231021	NM_016279.3	184	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3893.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGTTGCA	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.03)	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Thr184Ile,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	724	161	200	SUCCESS
PLCXD3	345557	.	GRCh37	5	41381972	41381972	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	142	200	0	ENST00000328457.3:c.768G>A	p.Val256=	p.V256=	ENST00000328457	NM_001005473.2	256	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS34150.1	768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACCACAGT	NONE	.	.	hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000367032	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377801	Transcript	.	.	ENSG00000182836	31822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX3_HUMAN	PLCXD3	HGNC	B3KXD1_HUMAN	.	UPI0000049DBB	SNV	PLCXD3,synonymous_variant,p.%3D,ENST00000328457,;PLCXD3,synonymous_variant,p.%3D,ENST00000377801,;	843	200	256	SUCCESS
ERCC8	1161	.	GRCh37	5	60200656	60200656	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	110	340	1	ENST00000265038.5:c.444T>C	p.His148=	p.H148=	ENST00000265038	NM_000082.3	148	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS3978.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATATGATG	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22850,PROSITE_profiles:PS50294	.	.	ENSP00000265038	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000265038	Transcript	1	.	ENSG00000049167	3439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC8_HUMAN	ERCC8	HGNC	G3XAG7_HUMAN,C9JNT2_HUMAN,B3KPW7_HUMAN	.	UPI000000D8F8	SNV	ERCC8,synonymous_variant,p.%3D,ENST00000265038,;ERCC8,synonymous_variant,p.%3D,ENST00000439176,;ERCC8,synonymous_variant,p.%3D,ENST00000426742,;ERCC8,intron_variant,,ENST00000543101,;ERCC8,non_coding_transcript_exon_variant,,ENST00000495985,;ERCC8,non_coding_transcript_exon_variant,,ENST00000462279,;ERCC8,intron_variant,,ENST00000484330,;ERCC8,3_prime_UTR_variant,,ENST00000381118,;ERCC8,non_coding_transcript_exon_variant,,ENST00000497892,;	487	341	282	SUCCESS
ERCC8	1161	.	GRCh37	5	60240846	60240846	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	28	0	ENST00000265038.5:c.-11G>C		p.*4*	ENST00000265038	NM_000082.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTCACACC	NONE	.	.	.	.	.	ENSP00000265038	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000265038	Transcript	1	.	ENSG00000049167	3439	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC8_HUMAN	ERCC8	HGNC	G3XAG7_HUMAN,C9JNT2_HUMAN,B3KPW7_HUMAN	.	UPI000000D8F8	SNV	ERCC8,5_prime_UTR_variant,,ENST00000265038,;ERCC8,5_prime_UTR_variant,,ENST00000439176,;ERCC8,5_prime_UTR_variant,,ENST00000543101,;ERCC8,5_prime_UTR_variant,,ENST00000426742,;NDUFAF2,upstream_gene_variant,,ENST00000502658,;NDUFAF2,upstream_gene_variant,,ENST00000511107,;NDUFAF2,upstream_gene_variant,,ENST00000296597,;ERCC8,5_prime_UTR_variant,,ENST00000381118,;ERCC8,non_coding_transcript_exon_variant,,ENST00000497892,;ERCC8,non_coding_transcript_exon_variant,,ENST00000477893,;	33	28	46	SUCCESS
CMYA5	202333	.	GRCh37	5	79027939	79027953	+	inframe_deletion	In_Frame_Del	DEL	ATATTTAGAGCCTGA	ATATTTAGAGCCTGA	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	ATATTTAGAGCCTGA	ATATTTAGAGCCTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	133	40	192	0	ENST00000446378.2:c.3351_3365del	p.Tyr1118_Glu1122del	p.Y1118_E1122del	ENST00000446378	NM_153610.3	1117	gcATATTTAGAGCCTGAg/gcg	0	.	.	.	.	.	-	AYLEPE/A	protein_coding	YES	CCDS47238.1	3351-3365	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAGCATATTTAGAGCCTGAGTCTG	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	deletion	CMYA5,inframe_deletion,p.Tyr1118_Glu1122del,ENST00000446378,;	3382-3396	192	173	SUCCESS
MEF2C	4208	.	GRCh37	5	88025144	88025144	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	41	117	0	ENST00000437473.2:c.855C>A	p.Ser285=	p.S285=	ENST00000437473	NM_001193350.1	285	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54878.1	885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGGAGTT	NONE	.	.	hmmpanther:PTHR11945:SF25,hmmpanther:PTHR11945	.	.	ENSP00000340874	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000340208	Transcript	1	.	ENSG00000081189	6996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEF2C_HUMAN	MEF2C	HGNC	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG14_HUMAN	.	UPI0000D9B539	SNV	MEF2C,synonymous_variant,p.%3D,ENST00000504921,;MEF2C,synonymous_variant,p.%3D,ENST00000510942,;MEF2C,synonymous_variant,p.%3D,ENST00000514028,;MEF2C,synonymous_variant,p.%3D,ENST00000514015,;MEF2C,synonymous_variant,p.%3D,ENST00000506554,;MEF2C,synonymous_variant,p.%3D,ENST00000340208,;MEF2C,synonymous_variant,p.%3D,ENST00000424173,;MEF2C,synonymous_variant,p.%3D,ENST00000437473,;MEF2C,synonymous_variant,p.%3D,ENST00000508569,;MEF2C,synonymous_variant,p.%3D,ENST00000539796,;MEF2C,downstream_gene_variant,,ENST00000513252,;MEF2C,downstream_gene_variant,,ENST00000506716,;MEF2C,downstream_gene_variant,,ENST00000503554,;MEF2C,non_coding_transcript_exon_variant,,ENST00000510980,;MEF2C,downstream_gene_variant,,ENST00000515715,;	1291	117	106	SUCCESS
BEND3	57673	.	GRCh37	6	107391941	107391941	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142662918	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	57	118	0	ENST00000369042.1:c.454G>A	p.Val152Met	p.V152M	ENST00000369042		152	Gtg/Atg	0	G:0.0007	G:0.0015	.	G:0	.	T	V/M	protein_coding	YES	CCDS34507.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACACGTTTA	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0	ENSP00000411268	G:0	5/5	.	.	.	.	.	.	.	.	rs142662918,COSM450280	5/5	PASS	ENST00000429433	Transcript	.	G:0.0004	ENSG00000178409	23040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.063)	G:0	tolerated_low_confidence(0.15)	0,1	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	SNV	BEND3,missense_variant,p.Val152Met,ENST00000429433,;BEND3,missense_variant,p.Val152Met,ENST00000369042,;	1104	118	129	SUCCESS
PDSS2	57107	.	GRCh37	6	107475922	107475922	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	46	84	0	ENST00000369037.4:c.1101C>G	p.Tyr367Ter	p.Y367*	ENST00000369037	NM_020381.3	367	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS5059.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGTAACG	NONE	.	.	hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF49,Gene3D:1.10.600.10,Superfamily_domains:SSF48576	.	.	ENSP00000358033	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369037	Transcript	.	.	ENSG00000164494	23041	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLP1_HUMAN	PDSS2	HGNC	B4DWD3_HUMAN	.	UPI000013E3B4	SNV	PDSS2,stop_gained,p.Tyr265Ter,ENST00000453874,;PDSS2,stop_gained,p.Tyr367Ter,ENST00000369037,;	1379	84	105	SUCCESS
COL10A1	1300	.	GRCh37	6	116441243	116441243	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	42	101	0	ENST00000243222.4:c.2036C>A	p.Pro679Gln	p.P679Q	ENST00000243222	NM_000493.3	679	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS5105.1	2036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTGGAGCC	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF74,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	.	ENSP00000327368	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327673	Transcript	.	.	ENSG00000123500	2185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.07)	.	COAA1_HUMAN	COL10A1	HGNC	Q5QPC8_HUMAN,Q5QPC7_HUMAN	.	UPI0000126D28	SNV	COL10A1,missense_variant,p.Pro679Gln,ENST00000327673,;COL10A1,missense_variant,p.Pro679Gln,ENST00000243222,;NT5DC1,intron_variant,,ENST00000319550,;NT5DC1,intron_variant,,ENST00000419791,;NT5DC1,downstream_gene_variant,,ENST00000417846,;COL10A1,downstream_gene_variant,,ENST00000452729,;AL121963.1,upstream_gene_variant,,ENST00000430695,;NT5DC1,intron_variant,,ENST00000460749,;	2444	101	97	SUCCESS
COL10A1	1300	.	GRCh37	6	116441244	116441244	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138831203	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	41	103	0	ENST00000243222.4:c.2035C>A	p.Pro679Thr	p.P679T	ENST00000243222	NM_000493.3	679	Cca/Aca	0	T:0	.	.	.	.	T	P/T	protein_coding	YES	CCDS5105.1	2035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGGAGCCA	NONE	byCluster	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF74,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	T:0.0001	ENSP00000327368	.	2/2	.	.	.	.	.	.	.	.	rs138831203	2/2	PASS	ENST00000327673	Transcript	.	.	ENSG00000123500	2185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0.01)	.	COAA1_HUMAN	COL10A1	HGNC	Q5QPC8_HUMAN,Q5QPC7_HUMAN	.	UPI0000126D28	SNV	COL10A1,missense_variant,p.Pro679Thr,ENST00000327673,;COL10A1,missense_variant,p.Pro679Thr,ENST00000243222,;NT5DC1,intron_variant,,ENST00000319550,;NT5DC1,intron_variant,,ENST00000419791,;NT5DC1,downstream_gene_variant,,ENST00000417846,;COL10A1,downstream_gene_variant,,ENST00000452729,;AL121963.1,upstream_gene_variant,,ENST00000430695,;NT5DC1,intron_variant,,ENST00000460749,;	2443	103	97	SUCCESS
ZUFSP	0	.	GRCh37	6	116987856	116987856	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	228	20	238	0	ENST00000368576.3:c.500A>T	p.Glu167Val	p.E167V	ENST00000368576	NM_145062.2	167	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS5110.1	500	MUTECT|MUSE	.	TATCTTCACTG	NONE	.	.	SMART_domains:SM00355,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF27	.	.	ENSP00000357565	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000368576	Transcript	.	.	ENSG00000153975	21224	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.088)	.	tolerated(0.21)	.	ZUFSP_HUMAN	ZUFSP	HGNC	.	.	UPI000006E8C6	SNV	ZUFSP,missense_variant,p.Glu167Val,ENST00000368576,;ZUFSP,missense_variant,p.Glu167Val,ENST00000368573,;ZUFSP,non_coding_transcript_exon_variant,,ENST00000471919,;	744	238	248	SUCCESS
ZUFSP	0	.	GRCh37	6	116987857	116987857	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	20	232	0	ENST00000368576.3:c.499G>T	p.Glu167Ter	p.E167*	ENST00000368576	NM_145062.2	167	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5110.1	499	MUTECT|MUSE|VARSCANS	.	ATCTTCACTGT	NONE	.	.	SMART_domains:SM00355,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF27	.	.	ENSP00000357565	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000368576	Transcript	.	.	ENSG00000153975	21224	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZUFSP_HUMAN	ZUFSP	HGNC	.	.	UPI000006E8C6	SNV	ZUFSP,stop_gained,p.Glu167Ter,ENST00000368576,;ZUFSP,stop_gained,p.Glu167Ter,ENST00000368573,;ZUFSP,non_coding_transcript_exon_variant,,ENST00000471919,;	743	232	238	SUCCESS
BCLAF1	9774	.	GRCh37	6	136589325	136589325	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	35	321	1	ENST00000531224.1:c.2372G>T	p.Gly791Val	p.G791V	ENST00000531224	NM_001077441.1	791	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5177.1	2372	RADIA|MUTECT|MUSE|VARSCANS	.	TAACTCCTGCA	NONE	.	.	hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	.	.	ENSP00000435210	.	10/13	.	.	.	.	.	.	.	.	COSM1545301	10/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.979)	.	deleterious(0)	1	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Gly791Val,ENST00000527536,;BCLAF1,missense_variant,p.Gly9Val,ENST00000031135,;BCLAF1,missense_variant,p.Gly789Val,ENST00000392348,;BCLAF1,missense_variant,p.Gly58Val,ENST00000534762,;BCLAF1,missense_variant,p.Gly789Val,ENST00000353331,;BCLAF1,missense_variant,p.Gly618Val,ENST00000530767,;BCLAF1,missense_variant,p.Gly791Val,ENST00000531224,;BCLAF1,missense_variant,p.Gly789Val,ENST00000527759,;BCLAF1,downstream_gene_variant,,ENST00000529826,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Gly46Val,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;BCLAF1,downstream_gene_variant,,ENST00000534321,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000532076,;BCLAF1,downstream_gene_variant,,ENST00000534792,;	2625	322	297	SUCCESS
RPS6KA2	6196	.	GRCh37	6	166944752	166944752	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	29	73	0	ENST00000265678.4:c.266C>T	p.Ala89Val	p.A89V	ENST00000265678	NM_021135.4	89	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34570.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGCGTAG	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000606,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25,PROSITE_profiles:PS50011	.	.	ENSP00000427015	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000503859	Transcript	.	.	ENSG00000071242	10431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	KS6A2_HUMAN	RPS6KA2	HGNC	D6RHW7_HUMAN,D6RD75_HUMAN,D6R910_HUMAN,B7Z3B5_HUMAN	.	UPI000020D48C	SNV	RPS6KA2,missense_variant,p.Ala114Val,ENST00000506565,;RPS6KA2,missense_variant,p.Ala89Val,ENST00000265678,;RPS6KA2,missense_variant,p.Ala73Val,ENST00000507371,;RPS6KA2,missense_variant,p.Ala114Val,ENST00000510118,;RPS6KA2,missense_variant,p.Ala97Val,ENST00000503859,;RPS6KA2,5_prime_UTR_variant,,ENST00000512860,;RPS6KA2,5_prime_UTR_variant,,ENST00000366863,;RPS6KA2,5_prime_UTR_variant,,ENST00000405189,;RPS6KA2,5_prime_UTR_variant,,ENST00000481261,;RPS6KA2,5_prime_UTR_variant,,ENST00000507350,;RPS6KA2,5_prime_UTR_variant,,ENST00000511034,;Z98049.1,upstream_gene_variant,,ENST00000598601,;	671	73	93	SUCCESS
ZNF322	79692	.	GRCh37	6	26637760	26637762	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	1475	305	1417	0	ENST00000415922.2:c.1020_1022del	p.Lys341del	p.K341del	ENST00000415922	NM_024639.4	340	caGAAa/caa	0	.	.	.	.	.	-	QK/Q	protein_coding	YES	CCDS4617.1	1020-1022	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCATTTTCTGTTG	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24377:SF118,hmmpanther:PTHR24377	.	.	ENSP00000418897	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000415922	Transcript	.	.	ENSG00000181315	23640	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN322_HUMAN	ZNF322	HGNC	C9JP13_HUMAN	.	UPI00000437CC	deletion	ZNF322,inframe_deletion,p.Lys341del,ENST00000415922,;ZNF322,inframe_deletion,p.Lys341del,ENST00000471278,;ZNF322,downstream_gene_variant,,ENST00000480036,;RP11-457M11.2,upstream_gene_variant,,ENST00000607204,;RP11-457M11.2,upstream_gene_variant,,ENST00000456172,;ZNF322,downstream_gene_variant,,ENST00000465674,;ZNF322,downstream_gene_variant,,ENST00000461899,;	1666-1668	1417	1780	SUCCESS
COL11A2	1302	.	GRCh37	6	33141302	33141302	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	21	0	ENST00000374708.4:c.2401T>C	p.Phe801Leu	p.F801L	ENST00000374708	NM_080681.2	801	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS43452.1	2401	RADIA|VARSCANS	.	AGGAAACCCGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	34/64	.	.	.	.	.	.	.	.	.	34/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.294)	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.Phe827Leu,ENST00000395197,;COL11A2,missense_variant,p.Phe840Leu,ENST00000374713,;COL11A2,missense_variant,p.Phe780Leu,ENST00000361917,;COL11A2,missense_variant,p.Phe806Leu,ENST00000374712,;COL11A2,missense_variant,p.Phe866Leu,ENST00000357486,;COL11A2,missense_variant,p.Phe801Leu,ENST00000374708,;COL11A2,missense_variant,p.Phe887Leu,ENST00000341947,;COL11A2,missense_variant,p.Phe861Leu,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	2660	21	33	SUCCESS
NCR2	9436	.	GRCh37	6	41309741	41309741	+	intron_variant	Intron	SNP	G	G	T	rs765453027	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	50	0	ENST00000373089.5:c.531-33G>T		p.*177*	ENST00000373089	NM_004828.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4855.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGTCCTC	NONE	byFrequency	.	.	.	.	ENSP00000362181	.	.	.	.	.	.	.	.	.	.	rs765453027	.	PASS	ENST00000373089	Transcript	.	.	ENSG00000096264	6732	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCTR2_HUMAN	NCR2	HGNC	.	.	UPI000006DFB0	SNV	NCR2,synonymous_variant,p.%3D,ENST00000373086,;NCR2,intron_variant,,ENST00000373089,;NCR2,intron_variant,,ENST00000373083,;	.	50	53	SUCCESS
CUL9	23113	.	GRCh37	6	43153266	43153266	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	71	0	ENST00000252050.4:c.668G>A	p.Arg223His	p.R223H	ENST00000252050	NM_015089.2	223	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4890.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCGCTATA	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	3/41	.	.	.	.	.	.	.	.	.	3/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0.01)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Arg223His,ENST00000354495,;CUL9,missense_variant,p.Arg223His,ENST00000372647,;CUL9,missense_variant,p.Arg223His,ENST00000252050,;SRF,downstream_gene_variant,,ENST00000265354,;CUL9,non_coding_transcript_exon_variant,,ENST00000451399,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,upstream_gene_variant,,ENST00000510282,;	752	71	107	SUCCESS
AARS2	57505	.	GRCh37	6	44272531	44272531	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	23	177	0	ENST00000244571.4:c.1603G>C	p.Val535Leu	p.V535L	ENST00000244571	NM_020745.3	535	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS34464.1	1603	RADIA|MUTECT|MUSE|VARSCANS	.	CAACACCTGGG	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344	.	.	ENSP00000244571	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.725)	.	deleterious(0)	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,missense_variant,p.Val535Leu,ENST00000244571,;TMEM151B,intron_variant,,ENST00000438774,;AARS2,upstream_gene_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	1606	177	178	SUCCESS
PHIP	55023	.	GRCh37	6	79688429	79688429	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	55	198	0	ENST00000275034.4:c.2770-1G>T		p.X924_splice	ENST00000275034	NM_017934.5	924		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4987.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTCTGACA	NONE	.	.	.	.	.	ENSP00000275034	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	HIGH	23/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,splice_acceptor_variant,,ENST00000275034,;PHIP,splice_acceptor_variant,,ENST00000479165,;	.	198	136	SUCCESS
GABRR2	2570	.	GRCh37	6	90009577	90009577	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1380757911	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	77	148	0	ENST00000402938.3:c.121T>C	p.Tyr41His	p.Y41H	ENST00000402938	NM_002043.3	41	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS5020.3	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATATAAGT	NONE	.	.	hmmpanther:PTHR18945:SF197,hmmpanther:PTHR18945	.	.	ENSP00000386029	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000402938	Transcript	.	.	ENSG00000111886	4091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.5)	.	GBRR2_HUMAN	GABRR2	HGNC	B4DER2_HUMAN	.	UPI000012B0DB	SNV	GABRR2,missense_variant,p.Tyr66His,ENST00000602399,;GABRR2,missense_variant,p.Tyr41His,ENST00000402938,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602808,;TUBB3P1,upstream_gene_variant,,ENST00000405796,;	255	148	176	SUCCESS
THSD7A	221981	.	GRCh37	7	11464348	11464348	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs746886582	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	11	80	0	ENST00000423059.4:c.3358G>C	p.Glu1120Gln	p.E1120Q	ENST00000423059	NM_015204.2	1120	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS47543.1	3358	MUTECT|MUSE|VARSCANS	.	GCCCTCTCCAC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000406482	.	16/28	.	.	.	.	.	.	.	.	rs746886582	16/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.613)	.	deleterious(0.02)	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,missense_variant,p.Glu1120Gln,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;	3610	80	136	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117375351	117375351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	59	140	0	ENST00000160373.3:c.3660C>A	p.Ser1220Arg	p.S1220R	ENST00000160373	NM_033427.2	1220	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS5774.1	3660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGCTGCG	BUFFER|p.R1219C|c.3655C>T|3	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.318)	.	deleterious(0.02)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Ser708Arg,ENST00000446636,;CTTNBP2,missense_variant,p.Ser1220Arg,ENST00000160373,;CTTNBP2,downstream_gene_variant,,ENST00000435233,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	3752	140	136	SUCCESS
KLHDC10	23008	.	GRCh37	7	129760678	129760678	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	73	199	0	ENST00000335420.5:c.565G>T	p.Val189Leu	p.V189L	ENST00000335420	NM_014997.3	189	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS5815.1	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATGTGAAG	NONE	.	.	hmmpanther:PTHR23244,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000334140	.	4/10	.	.	.	.	.	.	.	.	COSM3720635	4/10	PASS	ENST00000335420	Transcript	.	.	ENSG00000128607	22194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.006)	.	tolerated(0.56)	1	KLD10_HUMAN	KLHDC10	HGNC	C9JRX2_HUMAN	.	UPI0000160705	SNV	KLHDC10,missense_variant,p.Val46Leu,ENST00000468226,;KLHDC10,missense_variant,p.Val189Leu,ENST00000335420,;KLHDC10,downstream_gene_variant,,ENST00000463413,;KLHDC10,downstream_gene_variant,,ENST00000495724,;	699	199	295	SUCCESS
KLHDC10	23008	.	GRCh37	7	129760679	129760679	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	70	199	0	ENST00000335420.5:c.566T>A	p.Val189Glu	p.V189E	ENST00000335420	NM_014997.3	189	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS5815.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGTGAAGT	NONE	.	.	hmmpanther:PTHR23244,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000334140	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000335420	Transcript	.	.	ENSG00000128607	22194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0.01)	.	KLD10_HUMAN	KLHDC10	HGNC	C9JRX2_HUMAN	.	UPI0000160705	SNV	KLHDC10,missense_variant,p.Val46Glu,ENST00000468226,;KLHDC10,missense_variant,p.Val189Glu,ENST00000335420,;KLHDC10,downstream_gene_variant,,ENST00000463413,;KLHDC10,downstream_gene_variant,,ENST00000495724,;	700	199	295	SUCCESS
PLXNA4	91584	.	GRCh37	7	131883315	131883315	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	41	0	ENST00000321063.4:c.2667C>A	p.Asp889Glu	p.D889E	ENST00000321063	NM_020911.1	889	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS43646.1	2667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATGTCGCG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000352882	.	13/32	.	.	.	.	.	.	.	.	.	13/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.89)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Asp889Glu,ENST00000321063,;PLXNA4,missense_variant,p.Asp889Glu,ENST00000359827,;	3630	41	38	SUCCESS
FAM180A	389558	.	GRCh37	7	135418945	135418945	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	85	0	ENST00000338588.3:c.300C>A	p.Ser100Arg	p.S100R	ENST00000338588	NM_205855.3	100	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS5841.1	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATGCTCTT	NONE	.	.	Pfam_domain:PF15173	.	.	ENSP00000342336	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338588	Transcript	.	.	ENSG00000189320	33773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.79)	.	F180A_HUMAN	FAM180A	HGNC	.	.	UPI0000035A01	SNV	FAM180A,missense_variant,p.Ser100Arg,ENST00000338588,;FAM180A,missense_variant,p.Ser100Arg,ENST00000415751,;SLC13A4,upstream_gene_variant,,ENST00000378428,;SLC13A4,upstream_gene_variant,,ENST00000422620,;FAM180A,intron_variant,,ENST00000435869,;FAM180A,missense_variant,p.Ser100Arg,ENST00000444083,;	566	86	75	SUCCESS
ARHGEF5	7984	.	GRCh37	7	144070301	144070301	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	832	182	957	1	ENST00000056217.5:c.4064G>T	p.Cys1355Phe	p.C1355F	ENST00000056217	NM_005435.3	1355	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS34771.1	4064	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GGACTGCAATA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000056217	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000056217	Transcript	.	.	ENSG00000050327	13209	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ARHG5_HUMAN	ARHGEF5	HGNC	H9XFB6_HUMAN	.	UPI00004028DC	SNV	ARHGEF5,missense_variant,p.Cys1355Phe,ENST00000056217,;ARHGEF5,missense_variant,p.Cys277Phe,ENST00000471847,;ARHGEF5,missense_variant,p.Cys609Phe,ENST00000474817,;	4238	959	1015	SUCCESS
ARHGEF5	7984	.	GRCh37	7	144070302	144070302	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	841	185	965	0	ENST00000056217.5:c.4065C>T	p.Cys1355=	p.C1355=	ENST00000056217	NM_005435.3	1355	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS34771.1	4065	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GACTGCAATAA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000056217	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000056217	Transcript	.	.	ENSG00000050327	13209	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHG5_HUMAN	ARHGEF5	HGNC	H9XFB6_HUMAN	.	UPI00004028DC	SNV	ARHGEF5,synonymous_variant,p.%3D,ENST00000056217,;ARHGEF5,synonymous_variant,p.%3D,ENST00000471847,;ARHGEF5,synonymous_variant,p.%3D,ENST00000474817,;	4239	965	1026	SUCCESS
GPNMB	10457	.	GRCh37	7	23296688	23296688	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	155	230	0	ENST00000381990.2:c.541+4G>T		p.X181_splice	ENST00000381990	NM_002510.2	181		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34610.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGGCTTT	NONE	.	.	.	.	.	ENSP00000371420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381990	Transcript	.	.	ENSG00000136235	4462	.	.	LOW	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPNMB_HUMAN	GPNMB	HGNC	.	.	UPI000007158E	SNV	GPNMB,missense_variant,p.Trp182Leu,ENST00000409458,;GPNMB,splice_region_variant,,ENST00000381990,;GPNMB,splice_region_variant,,ENST00000539136,;GPNMB,splice_region_variant,,ENST00000258733,;GPNMB,intron_variant,,ENST00000453162,;GPNMB,splice_region_variant,,ENST00000465673,;GPNMB,downstream_gene_variant,,ENST00000492858,;GPNMB,downstream_gene_variant,,ENST00000487890,;GPNMB,downstream_gene_variant,,ENST00000459927,;GPNMB,downstream_gene_variant,,ENST00000492512,;	.	230	285	SUCCESS
GPNMB	10457	.	GRCh37	7	23296689	23296689	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	rs763865368	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	156	229	0	ENST00000381990.2:c.541+5G>T		p.X181_splice	ENST00000381990	NM_002510.2	181		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34610.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGCTTTT	NONE	.	.	.	.	.	ENSP00000371420	.	.	.	.	.	.	.	.	.	.	rs763865368	.	PASS	ENST00000381990	Transcript	.	.	ENSG00000136235	4462	.	.	LOW	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPNMB_HUMAN	GPNMB	HGNC	.	.	UPI000007158E	SNV	GPNMB,missense_variant,p.Trp182Cys,ENST00000409458,;GPNMB,splice_region_variant,,ENST00000381990,;GPNMB,splice_region_variant,,ENST00000539136,;GPNMB,splice_region_variant,,ENST00000258733,;GPNMB,intron_variant,,ENST00000453162,;GPNMB,splice_region_variant,,ENST00000465673,;GPNMB,downstream_gene_variant,,ENST00000492858,;GPNMB,downstream_gene_variant,,ENST00000487890,;GPNMB,downstream_gene_variant,,ENST00000459927,;GPNMB,downstream_gene_variant,,ENST00000492512,;	.	229	285	SUCCESS
CCDC129	0	.	GRCh37	7	31691634	31691634	+	synonymous_variant	Silent	SNP	G	G	T	rs1453424881	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	210	186	218	0	ENST00000451887.2:c.2871G>T	p.Arg957=	p.R957=	ENST00000451887	NM_001257968.1	957	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS59050.1	2871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCGGGCTCA	NONE	.	.	Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,synonymous_variant,p.%3D,ENST00000451887,;CCDC129,synonymous_variant,p.%3D,ENST00000409210,;CCDC129,synonymous_variant,p.%3D,ENST00000319386,;CCDC129,synonymous_variant,p.%3D,ENST00000407970,;CCDC129,non_coding_transcript_exon_variant,,ENST00000463693,;	2883	218	397	SUCCESS
UPP1	7378	.	GRCh37	7	48147819	48147819	+	synonymous_variant	Silent	SNP	C	C	T	rs1044090475	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	49	0	ENST00000331803.4:c.798C>T	p.Ala266=	p.A266=	ENST00000331803	NM_001287426.1	266	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5507.1	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCGTGGT	NONE	.	.	hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF15,Gene3D:3.40.50.1580,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01719,Superfamily_domains:SSF53167	.	.	ENSP00000330032	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000331803	Transcript	.	.	ENSG00000183696	12576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UPP1_HUMAN	UPP1	HGNC	C9K0J2_HUMAN,C9JIP2_HUMAN,C9J486_HUMAN	.	UPI0000137AC5	SNV	UPP1,synonymous_variant,p.%3D,ENST00000429491,;UPP1,synonymous_variant,p.%3D,ENST00000331803,;UPP1,synonymous_variant,p.%3D,ENST00000341253,;UPP1,synonymous_variant,p.%3D,ENST00000395564,;UPP1,downstream_gene_variant,,ENST00000436673,;UPP1,downstream_gene_variant,,ENST00000416681,;UPP1,non_coding_transcript_exon_variant,,ENST00000482015,;UPP1,3_prime_UTR_variant,,ENST00000457596,;UPP1,3_prime_UTR_variant,,ENST00000417464,;UPP1,3_prime_UTR_variant,,ENST00000395560,;UPP1,non_coding_transcript_exon_variant,,ENST00000495446,;UPP1,downstream_gene_variant,,ENST00000444999,;UPP1,downstream_gene_variant,,ENST00000421046,;	1421	49	49	SUCCESS
ABCA13	154664	.	GRCh37	7	48559835	48559835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	86	229	1	ENST00000435803.1:c.13996A>G	p.Thr4666Ala	p.T4666A	ENST00000435803	NM_152701.3	4666	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47584.1	13996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCACAGTA	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Transmembrane_helices:TMhelix	.	.	ENSP00000411096	.	53/62	.	.	.	.	.	.	.	.	.	53/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Thr4666Ala,ENST00000435803,;ABCA13,missense_variant,p.Thr396Ala,ENST00000544596,;ABCA13,missense_variant,p.Thr439Ala,ENST00000411975,;ABCA13,downstream_gene_variant,,ENST00000435451,;ABCA13,missense_variant,p.Thr932Ala,ENST00000453246,;	14020	230	248	SUCCESS
HEATR2	0	.	GRCh37	7	810170	810170	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	120	115	1	ENST00000297440.6:c.1846T>C	p.Ser616Pro	p.S616P	ENST00000297440	NM_017802.3	616	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS34580.1	1846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTCCCAA	NONE	.	.	hmmpanther:PTHR16216:SF2,hmmpanther:PTHR16216,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000297440	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000297440	Transcript	.	.	ENSG00000164818	26013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.23)	.	HEAT2_HUMAN	HEATR2	HGNC	.	.	UPI0000D61BE2	SNV	HEATR2,missense_variant,p.Ser616Pro,ENST00000313147,;HEATR2,missense_variant,p.Ser41Pro,ENST00000403952,;HEATR2,missense_variant,p.Ser418Pro,ENST00000440747,;HEATR2,missense_variant,p.Ser616Pro,ENST00000297440,;HEATR2,non_coding_transcript_exon_variant,,ENST00000491496,;	1866	116	203	SUCCESS
PDK4	5166	.	GRCh37	7	95225562	95225562	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145170776	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	56	0	ENST00000005178.5:c.44A>G	p.Asn15Ser	p.N15S	ENST00000005178	NM_002612.3	15	aAc/aGc	0	C:0.0002	.	.	.	.	C	N/S	protein_coding	YES	CCDS5643.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGTTGAGC	NONE	byCluster	.	hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF17	.	C:0	ENSP00000005178	.	1/11	.	.	.	.	.	.	.	.	rs145170776	1/11	PASS	ENST00000005178	Transcript	.	.	ENSG00000004799	8812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.71)	.	PDK4_HUMAN	PDK4	HGNC	B3KUX1_HUMAN,B3KU25_HUMAN,A4D1H4_HUMAN	.	UPI000000D984	SNV	PDK4,missense_variant,p.Asn15Ser,ENST00000005178,;AC002451.3,upstream_gene_variant,,ENST00000416502,;AC002451.3,upstream_gene_variant,,ENST00000432265,;PDK4,non_coding_transcript_exon_variant,,ENST00000473301,;PDK4,upstream_gene_variant,,ENST00000473796,;	242	56	60	SUCCESS
MTBP	27085	.	GRCh37	8	121530146	121530146	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	39	89	0	ENST00000305949.1:c.2302A>G	p.Asn768Asp	p.N768D	ENST00000305949	NM_022045.4	768	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS6333.1	2302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGTAATCAC	NONE	.	.	hmmpanther:PTHR14382,hmmpanther:PTHR14382:SF1,Pfam_domain:PF14920	.	.	ENSP00000303398	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000305949	Transcript	.	.	ENSG00000172167	7417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.2)	.	MTBP_HUMAN	MTBP	HGNC	.	.	UPI00000703F0	SNV	MTBP,missense_variant,p.Asn768Asp,ENST00000305949,;MTBP,upstream_gene_variant,,ENST00000519556,;	2347	89	93	SUCCESS
SGCZ	137868	.	GRCh37	8	13965672	13965672	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs755364582	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	61	131	0	ENST00000382080.1:c.620G>A	p.Arg207Lys	p.R207K	ENST00000382080	NM_139167.2	207	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS5992.2	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTGAGA	NONE	.	.	Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5	.	.	ENSP00000371512	.	6/8	.	.	.	.	.	.	.	.	rs755364582,COSM1699734	6/8	PASS	ENST00000382080	Transcript	.	.	ENSG00000185053	14075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.39)	0,1	SGCZ_HUMAN	SGCZ	HGNC	.	.	UPI00002339F6	SNV	SGCZ,missense_variant,p.Arg207Lys,ENST00000382080,;SGCZ,missense_variant,p.Arg160Lys,ENST00000421524,;	1336	132	163	SUCCESS
KIF13B	23303	.	GRCh37	8	29120569	29120569	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs778432205	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	48	0	ENST00000524189.1:c.-18T>C		p.*6*	ENST00000524189	NM_015254.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55217.1	.	MUTECT|MUSE	.	GAGGAACTCGT	NONE	.	.	.	.	.	ENSP00000427900	.	1/40	.	.	.	.	.	.	.	.	rs778432205	1/40	PASS	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,5_prime_UTR_variant,,ENST00000521515,;KIF13B,5_prime_UTR_variant,,ENST00000524189,;KIF13B,5_prime_UTR_variant,,ENST00000522355,;KIF13B,5_prime_UTR_variant,,ENST00000523968,;KIF13B,non_coding_transcript_exon_variant,,ENST00000522846,;	22	48	39	SUCCESS
CSMD1	64478	.	GRCh37	8	2976080	2976080	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1049387931	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	147	0	ENST00000537824.1:c.6271C>A	p.Pro2091Thr	p.P2091T	ENST00000537824	NM_033225.5	2091	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55189.1	6271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGTGGAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	42/70	.	.	.	.	.	.	.	.	COSM1552416,COSM1552415	42/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.205)	.	.	1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Pro2092Thr,ENST00000400186,;CSMD1,missense_variant,p.Pro2091Thr,ENST00000542608,;CSMD1,missense_variant,p.Pro2092Thr,ENST00000602723,;CSMD1,missense_variant,p.Pro1572Thr,ENST00000335551,;CSMD1,missense_variant,p.Pro2091Thr,ENST00000537824,;CSMD1,missense_variant,p.Pro2092Thr,ENST00000602557,;CSMD1,missense_variant,p.Pro2092Thr,ENST00000520002,;	6271	147	127	SUCCESS
PRKDC	5591	.	GRCh37	8	48839799	48839799	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	52	122	0	ENST00000314191.2:c.2374A>G	p.Ile792Val	p.I792V	ENST00000314191	NM_006904.6	792	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	.	2374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATGTCTT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371	.	.	ENSP00000313420	.	21/87	.	.	.	.	.	.	.	.	.	21/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.163)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Ile792Val,ENST00000338368,;PRKDC,missense_variant,p.Ile792Val,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000541488,;	2431	122	125	SUCCESS
PXDNL	137902	.	GRCh37	8	52321693	52321693	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	43	0	ENST00000356297.4:c.2491C>T	p.Pro831Ser	p.P831S	ENST00000356297	NM_144651.4	831	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47855.1	2491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGGCCGCC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.61)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Pro831Ser,ENST00000543296,;PXDNL,missense_variant,p.Pro831Ser,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,missense_variant,p.Pro97Ser,ENST00000522628,;	2592	43	47	SUCCESS
PCMTD1	115294	.	GRCh37	8	52773719	52773719	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	47	138	0	ENST00000360540.5:c.-8A>G		p.*3*	ENST00000360540	NM_052937.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6148.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTATTCAAA	NONE	.	.	.	.	.	ENSP00000353739	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000360540	Transcript	.	.	ENSG00000168300	30483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCMD1_HUMAN	PCMTD1	HGNC	.	.	UPI0000047CC0	SNV	PCMTD1,5_prime_UTR_variant,,ENST00000522514,;PCMTD1,5_prime_UTR_variant,,ENST00000521344,;PCMTD1,5_prime_UTR_variant,,ENST00000360540,;PCMTD1,intron_variant,,ENST00000544451,;PCMTD1,intron_variant,,ENST00000519559,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000521046,;PCMTD1,upstream_gene_variant,,ENST00000519975,;	400	138	127	SUCCESS
MMP16	4325	.	GRCh37	8	89339405	89339405	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	108	0	ENST00000286614.6:c.31C>G	p.Arg11Gly	p.R11G	ENST00000286614	NM_005941.4	11	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6246.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCGTCTTC	NONE	.	.	PIRSF_domain:PIRSF001191	.	.	ENSP00000286614	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.09)	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,missense_variant,p.Arg11Gly,ENST00000286614,;MMP16,missense_variant,p.Arg28Gly,ENST00000522726,;RP11-586K2.1,non_coding_transcript_exon_variant,,ENST00000523254,;RP11-586K2.1,upstream_gene_variant,,ENST00000520849,;RP11-586K2.1,upstream_gene_variant,,ENST00000521433,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;MMP16,non_coding_transcript_exon_variant,,ENST00000520568,;	313	109	102	SUCCESS
MSRA	4482	.	GRCh37	8	9953303	9953303	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	13	0	ENST00000317173.4:c.142+41135T>C		p.*48*	ENST00000317173	NM_012331.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5975.1	.	MUTECT|MUSE	.	TTTAGTCACCA	NONE	.	.	.	.	.	ENSP00000313921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000317173	Transcript	.	.	ENSG00000175806	7377	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSRA_HUMAN	MSRA	HGNC	E5RJK1_HUMAN	.	UPI0000039C0C	SNV	MSRA,5_prime_UTR_variant,,ENST00000382490,;MSRA,5_prime_UTR_variant,,ENST00000522907,;MSRA,5_prime_UTR_variant,,ENST00000528246,;MSRA,intron_variant,,ENST00000317173,;MSRA,intron_variant,,ENST00000518255,;MSRA,intron_variant,,ENST00000521209,;MSRA,intron_variant,,ENST00000441698,;MSRA,non_coding_transcript_exon_variant,,ENST00000523637,;	.	13	9	SUCCESS
TTLL11	158135	.	GRCh37	9	124855268	124855268	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000321582.5:c.430A>G	p.Lys144Glu	p.K144E	ENST00000321582	NM_001139442.1	144	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS48012.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTTGCACT	NONE	.	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF95	.	.	ENSP00000321346	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000321582	Transcript	.	.	ENSG00000175764	18113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated_low_confidence(0.2)	.	.	TTLL11	HGNC	F8W6M1_HUMAN	.	UPI0000E0BF7B	SNV	TTLL11,missense_variant,p.Lys144Glu,ENST00000373776,;TTLL11,missense_variant,p.Lys144Glu,ENST00000321582,;TTLL11,non_coding_transcript_exon_variant,,ENST00000474723,;TTLL11,upstream_gene_variant,,ENST00000487468,;TTLL11,upstream_gene_variant,,ENST00000373778,;	618	17	16	SUCCESS
RALGDS	5900	.	GRCh37	9	135984101	135984101	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1391922480	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	28	48	0	ENST00000372050.3:c.737C>T	p.Ala246Val	p.A246V	ENST00000372050	NM_006266.3	246	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6959.1	737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGCCAGG	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000361120	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000372050	Transcript	.	.	ENSG00000160271	9842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.06)	.	GNDS_HUMAN	RALGDS	HGNC	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN	.	UPI000012B8BC	SNV	RALGDS,missense_variant,p.Ala246Val,ENST00000372050,;RALGDS,missense_variant,p.Ala191Val,ENST00000393160,;RALGDS,missense_variant,p.Ala245Val,ENST00000393157,;RALGDS,missense_variant,p.Ala234Val,ENST00000372047,;RALGDS,missense_variant,p.Ala217Val,ENST00000372062,;RALGDS,missense_variant,p.Ala317Val,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000424572,;RALGDS,non_coding_transcript_exon_variant,,ENST00000469972,;RALGDS,non_coding_transcript_exon_variant,,ENST00000493438,;RALGDS,non_coding_transcript_exon_variant,,ENST00000482648,;RALGDS,upstream_gene_variant,,ENST00000471109,;RALGDS,upstream_gene_variant,,ENST00000460587,;RALGDS,upstream_gene_variant,,ENST00000493067,;	759	48	43	SUCCESS
PLAA	9373	.	GRCh37	9	26923264	26923264	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	197	108	316	0	ENST00000397292.3:c.951G>T	p.Leu317=	p.L317=	ENST00000397292	NM_001031689.2	317	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS35000.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGACAGTTC	NONE	.	.	hmmpanther:PTHR19849:SF0,hmmpanther:PTHR19849	.	.	ENSP00000380460	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000397292	Transcript	.	.	ENSG00000137055	9043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLAP_HUMAN	PLAA	HGNC	.	.	UPI00000372D6	SNV	PLAA,synonymous_variant,p.%3D,ENST00000520884,;PLAA,synonymous_variant,p.%3D,ENST00000397292,;PLAA,upstream_gene_variant,,ENST00000487173,;PLAA,downstream_gene_variant,,ENST00000523212,;PLAA,upstream_gene_variant,,ENST00000517642,;PLAA,upstream_gene_variant,,ENST00000520641,;PLAA,upstream_gene_variant,,ENST00000521968,;	1369	316	305	SUCCESS
ANKRD20A1	84210	.	GRCh37	9	67968357	67968357	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	518	245	807	1	ENST00000377477.2:c.1916A>T	p.Asp639Val	p.D639V	ENST00000377477	NM_032250.3	639	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6620.1	1916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGATGTTT	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915	.	.	ENSP00000366697	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000377477	Transcript	.	.	ENSG00000196774	23665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	A20A1_HUMAN	ANKRD20A1	HGNC	.	.	UPI0000457755	SNV	ANKRD20A1,missense_variant,p.Asp639Val,ENST00000377477,;RP11-195B21.3,upstream_gene_variant,,ENST00000417488,;	2028	808	764	SUCCESS
KDM4C	23081	.	GRCh37	9	6981046	6981046	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	93	1	ENST00000381309.3:c.1043C>T	p.Pro348Leu	p.P348L	ENST00000381309	NM_015061.3	348	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS6471.1	1043	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GAAGCCTACTC	NONE	.	.	hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694	.	.	ENSP00000370710	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.162)	.	deleterious(0.03)	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,missense_variant,p.Pro348Leu,ENST00000381306,;KDM4C,missense_variant,p.Pro348Leu,ENST00000381309,;KDM4C,missense_variant,p.Pro370Leu,ENST00000535193,;KDM4C,missense_variant,p.Pro348Leu,ENST00000543771,;KDM4C,missense_variant,p.Pro167Leu,ENST00000536108,;KDM4C,missense_variant,p.Pro35Leu,ENST00000428870,;KDM4C,missense_variant,p.Pro167Leu,ENST00000442236,;RP11-403H13.1,downstream_gene_variant,,ENST00000445708,;KDM4C,upstream_gene_variant,,ENST00000494570,;KDM4C,missense_variant,p.Pro348Leu,ENST00000438023,;	1608	95	81	SUCCESS
APBA1	320	.	GRCh37	9	72064664	72064664	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	76	0	ENST00000265381.4:c.2017G>T	p.Glu673Ter	p.E673*	ENST00000265381	NM_001163.3	673	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6630.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTCCACAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000265381	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,stop_gained,p.Glu673Ter,ENST00000265381,;	2240	76	89	SUCCESS
SMC5	23137	.	GRCh37	9	72879327	72879327	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	140	291	0	ENST00000361138.5:c.293C>G	p.Ala98Gly	p.A98G	ENST00000361138	NM_015110.3	98	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS6632.1	293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGCTGGAA	NONE	.	.	hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306,Pfam_domain:PF02463,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000354957	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.16)	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,missense_variant,p.Ala98Gly,ENST00000361138,;	351	291	302	SUCCESS
SPATA31D3	389762	.	GRCh37	9	84563976	84563976	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	25	0	ENST00000334208.4:n.3835C>A		p.*1279*	ENST00000334208				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	AACTTCCCAGG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000592744,;RP11-383M4.6,intron_variant,,ENST00000585776,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000334208,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000445385,;	.	25	26	SUCCESS
KIF27	55582	.	GRCh37	9	86457172	86457172	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761847847	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	305	216	490	0	ENST00000297814.2:c.3701G>A	p.Arg1234Gln	p.R1234Q	ENST00000297814	NM_017576.2	1234	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6665.1	3701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCGCCGA	NONE	.	.	.	.	.	ENSP00000297814	.	17/18	.	.	.	.	.	.	.	.	rs761847847	17/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.69)	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,missense_variant,p.Arg1168Gln,ENST00000413982,;KIF27,missense_variant,p.Arg1137Gln,ENST00000334204,;KIF27,missense_variant,p.Arg1234Gln,ENST00000297814,;RP11-575L7.4,intron_variant,,ENST00000591217,;RP11-575L7.2,downstream_gene_variant,,ENST00000412069,;RP11-575L7.2,downstream_gene_variant,,ENST00000439378,;RP11-575L7.2,downstream_gene_variant,,ENST00000458016,;RP11-575L7.2,downstream_gene_variant,,ENST00000417672,;	3845	491	522	SUCCESS
COL4A5	1287	.	GRCh37	X	107807134	107807134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	252	197	464	0	ENST00000361603.2:c.254C>A	p.Pro85Gln	p.P85Q	ENST00000361603	NM_000495.4	85	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS35366.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCACCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	4/53	.	.	.	.	.	.	.	.	.	4/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Pro85Gln,ENST00000328300,;COL4A5,missense_variant,p.Pro85Gln,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000470339,;	498	464	449	SUCCESS
TMEM164	84187	.	GRCh37	X	109246844	109246844	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	13	0	ENST00000372068.2:c.-159C>T		p.*53*	ENST00000372068	NM_032227.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14550.2	.	RADIA|MUTECT|MUSE	.	CCTTGCGTGTA	NONE	.	.	.	.	.	ENSP00000361143	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000372073	Transcript	.	.	ENSG00000157600	26217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM164_HUMAN	TMEM164	HGNC	.	.	UPI00004560FF	SNV	TMEM164,5_prime_UTR_variant,,ENST00000372073,;TMEM164,5_prime_UTR_variant,,ENST00000288381,;TMEM164,5_prime_UTR_variant,,ENST00000372068,;TMEM164,intron_variant,,ENST00000372072,;TMEM164,intron_variant,,ENST00000471255,;TMEM164,downstream_gene_variant,,ENST00000497754,;	178	13	9	SUCCESS
FRMPD4	9758	.	GRCh37	X	12712563	12712563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	125	285	0	ENST00000380682.1:c.923T>C	p.Leu308Pro	p.L308P	ENST00000380682	NM_014728.3	308	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS35201.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTCTATG	NONE	.	.	Superfamily_domains:SSF47031,SMART_domains:SM00295,Pfam_domain:PF00373,Gene3D:1.20.80.10,hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3,PROSITE_profiles:PS50057	.	.	ENSP00000370057	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,missense_variant,p.Leu308Pro,ENST00000380682,;	1429	285	299	SUCCESS
ATXN3L	92552	.	GRCh37	X	13337139	13337139	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	219	182	394	0	ENST00000380622.2:c.915C>A	p.Gly305=	p.G305=	ENST00000380622	NM_001135995.1	305	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS48080.1	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGCCCGG	NONE	.	.	hmmpanther:PTHR14159,hmmpanther:PTHR14159:SF2,Prints_domain:PR01233	.	.	ENSP00000369996	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380622	Transcript	.	.	ENSG00000123594	24173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATX3L_HUMAN	ATXN3L	HGNC	.	.	UPI00001C2065	SNV	ATXN3L,synonymous_variant,p.%3D,ENST00000380622,;GS1-600G8.3,non_coding_transcript_exon_variant,,ENST00000431486,;	1380	394	401	SUCCESS
GPR112	0	.	GRCh37	X	135487872	135487872	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	278	153	461	1	ENST00000370652.1:c.8676T>C	p.Ser2892=	p.S2892=	ENST00000370652		2892	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS35409.1	8676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTATCTT	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000377699	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,synonymous_variant,p.%3D,ENST00000287534,;GPR112,synonymous_variant,p.%3D,ENST00000370652,;GPR112,synonymous_variant,p.%3D,ENST00000394143,;GPR112,synonymous_variant,p.%3D,ENST00000394141,;GPR112,synonymous_variant,p.%3D,ENST00000412101,;	8967	462	431	SUCCESS
HTATSF1	27336	.	GRCh37	X	135582923	135582923	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	303	221	600	0	ENST00000218364.4:c.516T>G	p.Leu172=	p.L172=	ENST00000218364	NM_014500.4	172	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS14657.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTTTACAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR15608,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000442699	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000535601	Transcript	.	.	ENSG00000102241	5276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HTSF1_HUMAN	HTATSF1	HGNC	Q5H919_HUMAN,Q5H918_HUMAN	.	UPI000006D876	SNV	HTATSF1,synonymous_variant,p.%3D,ENST00000425695,;HTATSF1,synonymous_variant,p.%3D,ENST00000448450,;HTATSF1,synonymous_variant,p.%3D,ENST00000218364,;HTATSF1,synonymous_variant,p.%3D,ENST00000535601,;	938	600	524	SUCCESS
VGLL1	51442	.	GRCh37	X	135618180	135618180	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	43	0	ENST00000370634.3:c.1A>G	p.Met1?	p.M1?	ENST00000370634	NM_016267.3	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS14658.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAATGGAA	NONE	.	.	hmmpanther:PTHR15950:SF19,hmmpanther:PTHR15950	.	.	ENSP00000359668	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000370634	Transcript	.	.	ENSG00000102243	20985	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	VGLL1_HUMAN	VGLL1	HGNC	.	.	UPI0000071D9A	SNV	VGLL1,start_lost,p.Met1?,ENST00000370634,;VGLL1,upstream_gene_variant,,ENST00000440515,;VGLL1,upstream_gene_variant,,ENST00000456412,;	171	43	44	SUCCESS
ARHGEF6	9459	.	GRCh37	X	135767930	135767930	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	105	254	0	ENST00000250617.6:c.1298C>G	p.Ser433Cys	p.S433C	ENST00000250617	NM_004840.2	433	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS14660.1	1298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGGACAGT	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000250617	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000250617	Transcript	.	.	ENSG00000129675	685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0)	.	ARHG6_HUMAN	ARHGEF6	HGNC	.	.	UPI0000001C8E	SNV	ARHGEF6,missense_variant,p.Ser279Cys,ENST00000370620,;ARHGEF6,missense_variant,p.Ser433Cys,ENST00000250617,;ARHGEF6,missense_variant,p.Ser279Cys,ENST00000370622,;ARHGEF6,missense_variant,p.Ser306Cys,ENST00000535227,;	2504	254	283	SUCCESS
SCML1	6322	.	GRCh37	X	17768332	17768332	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199560760	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	54	126	0	ENST00000380041.3:c.622G>T	p.Gly208Trp	p.G208W	ENST00000380041	NM_001037540.1	208	Ggg/Tgg	0	.	A:0	.	A:0	.	T	G/W	protein_coding	YES	CCDS35210.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGGGCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12247:SF73,hmmpanther:PTHR12247	A:0.001	.	ENSP00000369380	A:0	6/8	.	.	.	.	.	.	.	.	rs199560760	6/8	PASS	ENST00000380041	Transcript	.	A:0.0003	ENSG00000047634	10580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	A:0	tolerated(0.11)	.	SCML1_HUMAN	SCML1	HGNC	.	.	UPI000021244E	SNV	SCML1,missense_variant,p.Gly208Trp,ENST00000380041,;SCML1,missense_variant,p.Gly87Trp,ENST00000398080,;SCML1,missense_variant,p.Gly181Trp,ENST00000380043,;SCML1,missense_variant,p.Gly87Trp,ENST00000380045,;SCML1,downstream_gene_variant,,ENST00000419185,;SCML1,non_coding_transcript_exon_variant,,ENST00000487842,;SCML1,downstream_gene_variant,,ENST00000427362,;	950	126	150	SUCCESS
KLHL34	257240	.	GRCh37	X	21676042	21676042	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	51	0	ENST00000379499.2:c.-136T>G		p.*46*	ENST00000379499	NM_153270.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14199.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCAGTTTA	NONE	.	.	.	.	.	ENSP00000368813	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379499	Transcript	.	.	ENSG00000185915	26634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH34_HUMAN	KLHL34	HGNC	.	.	UPI0000072CC4	SNV	KLHL34,5_prime_UTR_variant,,ENST00000379499,;CNKSR2,downstream_gene_variant,,ENST00000379510,;CNKSR2,downstream_gene_variant,,ENST00000425654,;	407	51	60	SUCCESS
DCAF8L1	139425	.	GRCh37	X	27998516	27998516	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	52	154	0	ENST00000441525.1:c.936C>T	p.Phe312=	p.F312=	ENST00000441525	NM_001017930.1	312	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS35222.1	936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGAACAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000405222	.	1/1	.	.	.	.	.	.	.	.	COSM1490819	1/1	PASS	ENST00000441525	Transcript	.	.	ENSG00000226372	31810	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DC8L1_HUMAN	DCAF8L1	HGNC	.	.	UPI000022DD1B	SNV	DCAF8L1,synonymous_variant,p.%3D,ENST00000441525,;	1051	154	161	SUCCESS
DMD	1756	.	GRCh37	X	31200854	31200854	+	splice_donor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	57	176	0	ENST00000357033.4:c.9974+1G>T		p.X3325_splice	ENST00000357033	NM_004007.2	3325		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14233.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATACCTGAA	NONE	.	.	.	.	.	ENSP00000354923	.	.	.	.	.	.	.	.	.	.	CS071228,CS098772,DMD:c.9974+1G>A,DMD:c.9974+1G>T	.	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	HIGH	68/78	PRIMARY	.	.	.	.	5	1,1,0,0	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,splice_donor_variant,,ENST00000357033,;DMD,splice_donor_variant,,ENST00000358062,;DMD,splice_donor_variant,,ENST00000378705,;DMD,splice_donor_variant,,ENST00000378723,;DMD,splice_donor_variant,,ENST00000343523,;DMD,splice_donor_variant,,ENST00000378680,;DMD,splice_donor_variant,,ENST00000378707,;DMD,splice_donor_variant,,ENST00000474231,;DMD,splice_donor_variant,,ENST00000378677,;DMD,splice_donor_variant,,ENST00000361471,;DMD,splice_donor_variant,,ENST00000359836,;DMD,splice_donor_variant,,ENST00000541735,;DMD,splice_donor_variant,,ENST00000378702,;DMD,splice_donor_variant,,ENST00000475732,;	.	176	151	SUCCESS
MXRA5	25878	.	GRCh37	X	3240505	3240505	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	296	175	402	0	ENST00000217939.6:c.3221A>T	p.Glu1074Val	p.E1074V	ENST00000217939	NM_015419.3	1074	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS14124.1	3221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTCTAGC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.06)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Glu1074Val,ENST00000217939,;	3376	403	472	SUCCESS
CASK	8573	.	GRCh37	X	41428985	41428985	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	227	142	567	0	ENST00000378163.1:c.1518A>G	p.Lys506=	p.K506=	ENST00000378163		506	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS14257.1	1518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATTTTTAA	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40,PROSITE_profiles:PS50106	.	.	ENSP00000367408	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000378166	Transcript	.	.	ENSG00000147044	1497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSKP_HUMAN	CASK	HGNC	.	.	UPI000013DA91	SNV	CASK,synonymous_variant,p.%3D,ENST00000421587,;CASK,synonymous_variant,p.%3D,ENST00000442742,;CASK,synonymous_variant,p.%3D,ENST00000378166,;CASK,synonymous_variant,p.%3D,ENST00000318588,;CASK,synonymous_variant,p.%3D,ENST00000378179,;CASK,synonymous_variant,p.%3D,ENST00000378163,;CASK,synonymous_variant,p.%3D,ENST00000361962,;CASK,synonymous_variant,p.%3D,ENST00000378158,;CASK,synonymous_variant,p.%3D,ENST00000378154,;RNU6-1321P,downstream_gene_variant,,ENST00000390905,;CASK,non_coding_transcript_exon_variant,,ENST00000472704,;	1545	567	370	SUCCESS
MAOB	4129	.	GRCh37	X	43652777	43652777	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	270	139	433	0	ENST00000378069.4:c.817C>A	p.His273Asn	p.H273N	ENST00000378069	NM_000898.4	273	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS14261.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGAATCT	BUFFER|p.F274L|c.820T>C|3	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF51905	.	.	ENSP00000367309	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.01)	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,missense_variant,p.His257Asn,ENST00000538942,;MAOB,missense_variant,p.His257Asn,ENST00000536181,;MAOB,missense_variant,p.His273Asn,ENST00000378069,;MAOB,downstream_gene_variant,,ENST00000487544,;	965	433	409	SUCCESS
ARHGEF9	23229	.	GRCh37	X	62926264	62926264	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	78	0	ENST00000253401.6:c.255C>A	p.Asp85Glu	p.D85E	ENST00000253401	NM_015185.2	85	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS35315.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGTCCAG	NONE	.	.	Superfamily_domains:SSF50044,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103	.	.	ENSP00000253401	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000253401	Transcript	.	.	ENSG00000131089	14561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.56)	.	ARHG9_HUMAN	ARHGEF9	HGNC	B1AMR3_HUMAN	.	UPI000006F940	SNV	ARHGEF9,missense_variant,p.Asp83Glu,ENST00000374878,;ARHGEF9,missense_variant,p.Asp64Glu,ENST00000374872,;ARHGEF9,missense_variant,p.Asp32Glu,ENST00000437457,;ARHGEF9,missense_variant,p.Asp85Glu,ENST00000253401,;ARHGEF9,5_prime_UTR_variant,,ENST00000374870,;ARHGEF9,non_coding_transcript_exon_variant,,ENST00000495564,;	1056	78	88	SUCCESS
FOXO4	4303	.	GRCh37	X	70316754	70316754	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	107	233	0	ENST00000374259.3:c.376C>G	p.Gln126Glu	p.Q126E	ENST00000374259	NM_005938.3	126	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS43969.1	376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCAGATC	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF135,hmmpanther:PTHR11829,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000363377	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000374259	Transcript	.	.	ENSG00000184481	7139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.734)	.	deleterious(0)	.	FOXO4_HUMAN	FOXO4	HGNC	.	.	UPI00002122FA	SNV	FOXO4,missense_variant,p.Gln71Glu,ENST00000341558,;FOXO4,missense_variant,p.Gln126Glu,ENST00000374259,;FOXO4,non_coding_transcript_exon_variant,,ENST00000466874,;FOXO4,upstream_gene_variant,,ENST00000464598,;	708	233	258	SUCCESS
TGIF2LX	90316	.	GRCh37	X	89177576	89177576	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	59	162	0	ENST00000283891.5:c.492G>T	p.Lys164Asn	p.K164N	ENST00000283891	NM_138960.3	164	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS14459.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGGGCCA	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	.	.	ENSP00000453704	.	1/1	.	.	.	.	.	.	.	.	COSM3406652	1/1	PASS	ENST00000561129	Transcript	.	.	ENSG00000153779	18570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.074)	.	tolerated(0.42)	1	TF2LX_HUMAN	TGIF2LX	HGNC	.	.	UPI0000074793	SNV	TGIF2LX,missense_variant,p.Lys164Asn,ENST00000283891,;TGIF2LX,missense_variant,p.Lys164Asn,ENST00000561129,;	622	162	145	SUCCESS
SUPV3L1	6832	.	GRCh37	10	70951452	70951452	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	247	46	387	0	ENST00000359655.4:c.783A>G	p.Thr261=	p.T261=	ENST00000359655	NM_003171.3	261	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS7287.1	783	RADIA|MUTECT|MUSE|VARSCANS	.	GTGACAGTTCA	NONE	.	.	hmmpanther:PTHR12131:SF1,hmmpanther:PTHR12131,Superfamily_domains:SSF52540	.	.	ENSP00000352678	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000359655	Transcript	.	.	ENSG00000156502	11471	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SUV3_HUMAN	SUPV3L1	HGNC	.	.	UPI000007428D	SNV	SUPV3L1,synonymous_variant,p.%3D,ENST00000359655,;SUPV3L1,intron_variant,,ENST00000422378,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000478227,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000486661,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000483572,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000471069,;	843	387	294	SUCCESS
CEP290	80184	.	GRCh37	12	88508195	88508195	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	190	0	ENST00000552810.1:c.2052+2T>G		p.X684_splice	ENST00000552810	NM_025114.3	684		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55858.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTACATTA	NONE	.	.	.	.	.	ENSP00000448012	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	HIGH	20/53	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,splice_donor_variant,,ENST00000604024,;CEP290,splice_donor_variant,,ENST00000552810,;CEP290,splice_donor_variant,,ENST00000397838,;CEP290,splice_donor_variant,,ENST00000309041,;CEP290,intron_variant,,ENST00000547926,;	.	190	100	SUCCESS
BRCA2	675	.	GRCh37	13	32912486	32912486	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs863224588	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	154	0	ENST00000380152.3:c.3994C>T	p.His1332Tyr	p.H1332Y	ENST00000380152		1332	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS9344.1	3994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTCATAAC	NONE	.	.	hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,PIRSF_domain:PIRSF002397	.	.	ENSP00000439902	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.His1332Tyr,ENST00000544455,;BRCA2,missense_variant,p.His1332Tyr,ENST00000380152,;	4221	154	120	SUCCESS
IPO5	3843	.	GRCh37	13	98670928	98670928	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777731318	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	35	143	0	ENST00000357602.3:c.2806G>A	p.Gly936Ser	p.G936S	ENST00000357602		936	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS31999.1	2860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACGGTGGA	NONE	.	.	hmmpanther:PTHR10527:SF22,hmmpanther:PTHR10527,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000261574	.	26/29	.	.	.	.	.	.	.	.	rs777731318	26/29	PASS	ENST00000261574	Transcript	.	.	ENSG00000065150	6402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.03)	.	IPO5_HUMAN	IPO5	HGNC	Q9BVS9_HUMAN,E7EX05_HUMAN,E7EWK4_HUMAN,E7ETV3_HUMAN,E7ESZ1_HUMAN,E7ESA1_HUMAN,C9JZD8_HUMAN,C9JZ53_HUMAN,C9JXE0_HUMAN,C9JQT6_HUMAN,C9J875_HUMAN,B3KWG6_HUMAN	.	UPI0000163C1C	SNV	IPO5,missense_variant,p.Gly954Ser,ENST00000261574,;IPO5,missense_variant,p.Gly938Ser,ENST00000469360,;IPO5,missense_variant,p.Gly936Ser,ENST00000490680,;IPO5,missense_variant,p.Gly811Ser,ENST00000539640,;IPO5,missense_variant,p.Gly936Ser,ENST00000357602,;IPO5,non_coding_transcript_exon_variant,,ENST00000468620,;IPO5,non_coding_transcript_exon_variant,,ENST00000491555,;IPO5,upstream_gene_variant,,ENST00000493122,;	3040	143	170	SUCCESS
ZNF267	10308	.	GRCh37	16	31925948	31925948	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	27	146	0	ENST00000300870.10:c.378T>C	p.Asn126=	p.N126=	ENST00000300870	NM_003414.5	126	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS32440.1	378	RADIA|MUTECT|MUSE|VARSCANS	.	CACAATGGATG	NONE	.	.	hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377	.	.	ENSP00000300870	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300870	Transcript	.	.	ENSG00000185947	13060	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN267_HUMAN	ZNF267	HGNC	H3BPW2_HUMAN	.	UPI000045696F	SNV	ZNF267,synonymous_variant,p.%3D,ENST00000300870,;ZNF267,3_prime_UTR_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000561814,;ZNF267,downstream_gene_variant,,ENST00000566541,;	587	146	138	SUCCESS
SKAP1	8631	.	GRCh37	17	46262096	46262096	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1017266798	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	26	124	0	ENST00000336915.6:c.556C>T	p.Arg186Cys	p.R186C	ENST00000336915	NM_003726.3	186	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32674.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGCCTAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR15129,hmmpanther:PTHR15129:SF1,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000338171	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000336915	Transcript	.	.	ENSG00000141293	15605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SKAP1_HUMAN	SKAP1	HGNC	J3QS38_HUMAN,J3QRG3_HUMAN	.	UPI0000200EFD	SNV	SKAP1,missense_variant,p.Arg23Cys,ENST00000579336,;SKAP1,missense_variant,p.Arg186Cys,ENST00000584924,;SKAP1,missense_variant,p.Arg186Cys,ENST00000336915,;RP11-456D7.1,upstream_gene_variant,,ENST00000582246,;SKAP1,3_prime_UTR_variant,,ENST00000581419,;SKAP1,3_prime_UTR_variant,,ENST00000584709,;SKAP1,intron_variant,,ENST00000581400,;	626	124	120	SUCCESS
BPTF	2186	.	GRCh37	17	65905845	65905845	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1337179141	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	20	132	1	ENST00000321892.4:c.3338A>G	p.Asp1113Gly	p.D1113G	ENST00000321892		1113	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11673.1	2960	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGATATCT	NONE	.	.	hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Asp987Gly,ENST00000306378,;BPTF,missense_variant,p.Asp1113Gly,ENST00000321892,;BPTF,missense_variant,p.Asp1050Gly,ENST00000544778,;BPTF,missense_variant,p.Asp1113Gly,ENST00000335221,;BPTF,missense_variant,p.Asp974Gly,ENST00000424123,;	3020	133	123	SUCCESS
GPR142	350383	.	GRCh37	17	72367888	72367888	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1418149233	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	34	0	ENST00000335666.4:c.538G>A	p.Ala180Thr	p.A180T	ENST00000335666	NM_181790.1	180	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11698.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGCCCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF48,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335158	.	4/4	.	.	.	.	.	.	.	.	COSM321233	4/4	PASS	ENST00000335666	Transcript	.	.	ENSG00000257008	20088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.532)	.	tolerated(0.06)	1	GP142_HUMAN	GPR142	HGNC	.	.	UPI00001AA7F1	SNV	GPR142,missense_variant,p.Ala180Thr,ENST00000335666,;GPR142,3_prime_UTR_variant,,ENST00000585308,;GPR142,3_prime_UTR_variant,,ENST00000582579,;	586	34	40	SUCCESS
FBF1	85302	.	GRCh37	17	73918105	73918105	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	110	0	ENST00000586717.1:c.1405G>C	p.Gly469Arg	p.G469R	ENST00000586717		469	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS45779.1	1402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCTTGTG	NONE	.	.	.	.	.	ENSP00000324292	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	tolerated(0.32)	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,missense_variant,p.Gly468Arg,ENST00000319129,;FBF1,missense_variant,p.Gly483Arg,ENST00000592193,;FBF1,missense_variant,p.Gly469Arg,ENST00000389570,;FBF1,missense_variant,p.Gly469Arg,ENST00000586717,;FBF1,missense_variant,p.Lys121Asn,ENST00000586838,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;	1676	110	97	SUCCESS
SPTBN4	57731	.	GRCh37	19	41056209	41056209	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	45	0	ENST00000352632.3:c.4650C>A	p.Val1550=	p.V1550=	ENST00000352632		1550	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12559.1	4650	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTCCAGCA	NONE	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150	.	.	ENSP00000263373	.	22/36	.	.	.	.	.	.	.	.	.	22/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,synonymous_variant,p.%3D,ENST00000338932,;SPTBN4,synonymous_variant,p.%3D,ENST00000392023,;SPTBN4,synonymous_variant,p.%3D,ENST00000352632,;SPTBN4,synonymous_variant,p.%3D,ENST00000598249,;SPTBN4,synonymous_variant,p.%3D,ENST00000595535,;SPTBN4,synonymous_variant,p.%3D,ENST00000392025,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000596900,;	4736	45	50	SUCCESS
POLD1	5424	.	GRCh37	19	50912834	50912834	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747628342	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	122	0	ENST00000440232.2:c.2065C>T	p.Arg689Trp	p.R689W	ENST00000440232	NM_002691.3	689	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12795.1	2065	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACGGCAG	NONE	byFrequency	.	Superfamily_domains:SSF56672,SMART_domains:SM00486,Pfam_domain:PF00136,TIGRFAM_domain:TIGR00592,Gene3D:1.10.287.690,hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF11	.	.	ENSP00000406046	.	17/27	.	.	.	.	.	.	.	.	rs747628342,COSM1681237,COSM1681238	17/27	PASS	ENST00000440232	Transcript	1	.	ENSG00000062822	9175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.67)	.	deleterious(0)	0,1,1	DPOD1_HUMAN	POLD1	HGNC	M0R2J2_HUMAN	.	UPI000007288E	SNV	POLD1,missense_variant,p.Arg689Trp,ENST00000440232,;POLD1,missense_variant,p.Arg158Trp,ENST00000596425,;POLD1,missense_variant,p.Arg689Trp,ENST00000599857,;POLD1,missense_variant,p.Arg715Trp,ENST00000595904,;POLD1,upstream_gene_variant,,ENST00000593981,;POLD1,upstream_gene_variant,,ENST00000593407,;POLD1,missense_variant,p.Arg689Trp,ENST00000600859,;	2118	122	122	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144859947	144859947	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	246	25	214	0	ENST00000369354.3:c.6137A>G	p.His2046Arg	p.H2046R	ENST00000369354		2046	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS55627.1	6137	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTGGCTC	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	38/44	.	.	.	.	.	.	.	.	.	38/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.142)	.	tolerated(0.21)	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.His2046Arg,ENST00000369356,;PDE4DIP,missense_variant,p.His2046Arg,ENST00000369354,;PDE4DIP,missense_variant,p.His2182Arg,ENST00000369359,;PDE4DIP,missense_variant,p.His2131Arg,ENST00000530740,;PDE4DIP,missense_variant,p.His1940Arg,ENST00000313382,;PDE4DIP,intron_variant,,ENST00000530130,;RP4-791M13.4,intron_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000526664,;PDE4DIP,downstream_gene_variant,,ENST00000494734,;PDE4DIP,upstream_gene_variant,,ENST00000525630,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000534466,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000481227,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,downstream_gene_variant,,ENST00000525886,;PDE4DIP,upstream_gene_variant,,ENST00000534367,;PDE4DIP,downstream_gene_variant,,ENST00000479369,;PDE4DIP,upstream_gene_variant,,ENST00000533768,;PDE4DIP,downstream_gene_variant,,ENST00000527901,;	6428	214	271	SUCCESS
RASSF5	83593	.	GRCh37	1	206730943	206730943	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	78	0	ENST00000355294.4:c.579+19321G>T		p.*193*	ENST00000355294	NM_182663.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30998.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGGACGA	NONE	.	.	.	.	.	ENSP00000347443	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355294	Transcript	.	.	ENSG00000136653	17609	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RASF5_HUMAN	RASSF5	HGNC	.	.	UPI0000072CF5	SNV	RASSF5,synonymous_variant,p.%3D,ENST00000304534,;RASSF5,intron_variant,,ENST00000367117,;RASSF5,intron_variant,,ENST00000355294,;	.	78	92	SUCCESS
FCAMR	83953	.	GRCh37	1	207143612	207143612	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1558029692	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	47	0	ENST00000324852.4:c.-142C>T		p.*48*	ENST00000324852	NM_001170631.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53468.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACGGAAGG	NONE	.	.	.	.	.	ENSP00000316491	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000324852	Transcript	.	.	ENSG00000162897	24692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FCAMR	HGNC	.	.	UPI0000EE5E27	SNV	FCAMR,5_prime_UTR_variant,,ENST00000324852,;FCAMR,intron_variant,,ENST00000400962,;FCAMR,upstream_gene_variant,,ENST00000450945,;FCAMR,non_coding_transcript_exon_variant,,ENST00000488345,;FCAMR,intron_variant,,ENST00000487149,;FCAMR,5_prime_UTR_variant,,ENST00000324863,;	334	47	35	SUCCESS
GPN2	54707	.	GRCh37	1	27210697	27210697	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	104	0	ENST00000374135.4:c.814G>T	p.Glu272Ter	p.E272*	ENST00000374135	NM_018066.3	272	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS289.1	814	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCCAAGC	NONE	.	.	hmmpanther:PTHR21231:SF3,hmmpanther:PTHR21231	.	.	ENSP00000363250	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000374135	Transcript	.	.	ENSG00000142751	25513	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPN2_HUMAN	GPN2	HGNC	.	.	UPI0000071F43	SNV	GPN2,stop_gained,p.Glu272Ter,ENST00000374135,;GPN2,stop_gained,p.Glu93Ter,ENST00000374133,;GPN2,downstream_gene_variant,,ENST00000431781,;GPN2,downstream_gene_variant,,ENST00000461282,;GPN2,non_coding_transcript_exon_variant,,ENST00000477418,;	1015	104	98	SUCCESS
IL12RB2	3595	.	GRCh37	1	67795378	67795378	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	20	133	0	ENST00000262345.1:c.773G>C	p.Arg258Thr	p.R258T	ENST00000262345	NM_001559.2	258	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS638.1	773	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGATATC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000262345	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,missense_variant,p.Arg126Thr,ENST00000441640,;IL12RB2,missense_variant,p.Arg258Thr,ENST00000541374,;IL12RB2,missense_variant,p.Arg258Thr,ENST00000544434,;IL12RB2,missense_variant,p.Arg258Thr,ENST00000262345,;IL12RB2,missense_variant,p.Arg258Thr,ENST00000371000,;	1413	133	127	SUCCESS
FAM65C	0	.	GRCh37	20	49218836	49218836	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770515279	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	23	0	ENST00000327979.2:c.1420G>T	p.Gly474Trp	p.G474W	ENST00000327979		474	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS13431.2	1420	SOMATICSNIPER|VARSCANS	.	CTCCCCTCCTA	NONE	byFrequency	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	13/22	.	.	.	.	.	.	.	.	rs770515279	13/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.641)	.	deleterious(0.02)	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Gly474Trp,ENST00000327979,;FAM65C,missense_variant,p.Gly478Trp,ENST00000535356,;FAM65C,missense_variant,p.Gly474Trp,ENST00000045083,;FAM65C,upstream_gene_variant,,ENST00000488529,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	1832	23	16	SUCCESS
FAM65C	0	.	GRCh37	20	49218837	49218837	+	synonymous_variant	Silent	SNP	T	T	G	rs774013116	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	22	0	ENST00000327979.2:c.1419A>C	p.Gly473=	p.G473=	ENST00000327979		473	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS13431.2	1419	SOMATICSNIPER|VARSCANS	.	TCCCCTCCTAA	NONE	byFrequency	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	13/22	.	.	.	.	.	.	.	.	rs774013116	13/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,synonymous_variant,p.%3D,ENST00000327979,;FAM65C,synonymous_variant,p.%3D,ENST00000535356,;FAM65C,synonymous_variant,p.%3D,ENST00000045083,;FAM65C,upstream_gene_variant,,ENST00000488529,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	1831	22	16	SUCCESS
APOBEC3C	27350	.	GRCh37	22	39410322	39410322	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	75	0	ENST00000361441.4:c.-46T>G		p.*16*	ENST00000361441	NM_014508.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13983.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCTTCAGA	NONE	.	.	.	.	.	ENSP00000355340	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000361441	Transcript	.	.	ENSG00000244509	17353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABC3C_HUMAN	APOBEC3C	HGNC	Q59GY0_HUMAN	.	UPI0000149A97	SNV	APOBEC3C,5_prime_UTR_variant,,ENST00000361441,;APOBEC3D,upstream_gene_variant,,ENST00000381568,;APOBEC3C,5_prime_UTR_variant,,ENST00000428892,;	235	75	86	SUCCESS
LONRF2	164832	.	GRCh37	2	100906810	100906810	+	synonymous_variant	Silent	SNP	G	G	A	rs1365413576	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	21	142	0	ENST00000393437.3:c.1830C>T	p.Asp610=	p.D610=	ENST00000393437	NM_198461.3	610	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS2046.2	1830	RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCGTCTAC	NONE	.	.	hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF5,Pfam_domain:PF02190,SMART_domains:SM00464,Superfamily_domains:SSF88697	.	.	ENSP00000377086	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000393437	Transcript	.	.	ENSG00000170500	24788	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LONF2_HUMAN	LONRF2	HGNC	.	.	UPI000152B4EF	SNV	LONRF2,synonymous_variant,p.%3D,ENST00000393437,;LONRF2,synonymous_variant,p.%3D,ENST00000409647,;	2470	142	136	SUCCESS
INO80D	54891	.	GRCh37	2	206927762	206927762	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	11	131	0	ENST00000403263.1:c.-22T>A		p.*8*	ENST00000403263	NM_017759.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46500.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGAACATC	NONE	.	.	.	.	.	ENSP00000384198	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000403263	Transcript	.	.	ENSG00000114933	25997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IN80D_HUMAN	INO80D	HGNC	C9JLZ4_HUMAN,C9JLV2_HUMAN	.	UPI0000EE35FC	SNV	INO80D,5_prime_UTR_variant,,ENST00000403263,;INO80D,5_prime_UTR_variant,,ENST00000414320,;INO80D,intron_variant,,ENST00000424117,;	384	131	103	SUCCESS
FARSB	10056	.	GRCh37	2	223505623	223505623	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	235	46	549	0	ENST00000281828.6:c.297A>T	p.Val99=	p.V99=	ENST00000281828	NM_005687.3	99	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2454.1	297	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATTACCCG	NONE	.	.	TIGRFAM_domain:TIGR00471,hmmpanther:PTHR10947	.	.	ENSP00000281828	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000281828	Transcript	.	.	ENSG00000116120	17800	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYFB_HUMAN	FARSB	HGNC	F5H6Y1_HUMAN	.	UPI00002096AC	SNV	FARSB,synonymous_variant,p.%3D,ENST00000281828,;FARSB,5_prime_UTR_variant,,ENST00000536361,;	561	549	282	SUCCESS
MROH2A	339766	.	GRCh37	2	234737682	234737682	+	synonymous_variant	Silent	SNP	C	C	T	rs528246708	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	12	162	0	ENST00000389758.3:c.4410C>T	p.Asp1470=	p.D1470=	ENST00000389758		1470	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	.	4410	MUTECT|MUSE	.	TTCGACGCCAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371	T:0	.	ENSP00000374408	T:0	37/42	.	.	.	.	.	.	.	.	rs528246708	37/42	PASS	ENST00000389758	Transcript	.	T:0.0002	ENSG00000185038	27936	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	.	MROH2A	HGNC	F8VUA0_HUMAN,C9IYW5_HUMAN	.	UPI0003B9285E	SNV	MROH2A,synonymous_variant,p.%3D,ENST00000389758,;MROH2A,non_coding_transcript_exon_variant,,ENST00000487979,;HJURP,downstream_gene_variant,,ENST00000433484,;	4576	162	155	SUCCESS
KCNK3	3777	.	GRCh37	2	26915844	26915844	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	18	0	ENST00000302909.3:c.101A>G	p.Glu34Gly	p.E34G	ENST00000302909	NM_002246.2	34	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1727.1	101	RADIA|VARSCANS	.	GCCCGAGCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11003:SF101,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324	.	.	ENSP00000306275	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302909	Transcript	.	.	ENSG00000171303	6278	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	KCNK3_HUMAN	KCNK3	HGNC	B9EIJ4_HUMAN	.	UPI00000422B1	SNV	KCNK3,missense_variant,p.Glu34Gly,ENST00000302909,;	226	18	20	SUCCESS
BIRC6	57448	.	GRCh37	2	32692803	32692803	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs953306687	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	19	122	0	ENST00000421745.2:c.5567T>C	p.Met1856Thr	p.M1856T	ENST00000421745	NM_016252.3	1856	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS33175.2	5567	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATGAAGG	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	27/74	.	.	.	.	.	.	.	.	.	27/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.437)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Met1856Thr,ENST00000421745,;	5701	122	114	SUCCESS
MCM2	4171	.	GRCh37	3	127323594	127323594	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	42	0	ENST00000265056.7:c.380G>C	p.Gly127Ala	p.G127A	ENST00000265056	NM_004526.3	127	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS3043.1	380	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGCCTGG	NONE	.	.	Pfam_domain:PF12619,Low_complexity_(Seg):seg	.	.	ENSP00000265056	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000265056	Transcript	.	.	ENSG00000073111	6944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(1)	.	MCM2_HUMAN	MCM2	HGNC	Q9BWF4_HUMAN,C9JZ21_HUMAN,C9J013_HUMAN	.	UPI00001A3E4E	SNV	MCM2,missense_variant,p.Gly127Ala,ENST00000265056,;MCM2,missense_variant,p.Gly118Ala,ENST00000480910,;MCM2,downstream_gene_variant,,ENST00000472731,;MCM2,upstream_gene_variant,,ENST00000491422,;MCM2,non_coding_transcript_exon_variant,,ENST00000468659,;MCM2,missense_variant,p.Gly72Ala,ENST00000477668,;MCM2,missense_variant,p.Gly127Ala,ENST00000474964,;	624	42	58	SUCCESS
CCNL1	57018	.	GRCh37	3	156866183	156866183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	28	185	2	ENST00000295926.3:c.1428C>A	p.Ser476Arg	p.S476R	ENST00000295926	NM_020307.2	476	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS3178.1	1428	RADIA|VARSCANS	.	GACTTGCTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10026:SF64,hmmpanther:PTHR10026,PIRSF_domain:PIRSF036580	.	.	ENSP00000295926	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000295926	Transcript	.	.	ENSG00000163660	20569	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.23)	.	CCNL1_HUMAN	CCNL1	HGNC	.	.	UPI0000071CE2	SNV	CCNL1,missense_variant,p.Ser476Arg,ENST00000295926,;CCNL1,intron_variant,,ENST00000461804,;CCNL1,downstream_gene_variant,,ENST00000479052,;CCNL1,3_prime_UTR_variant,,ENST00000475298,;CCNL1,3_prime_UTR_variant,,ENST00000468977,;CCNL1,3_prime_UTR_variant,,ENST00000470121,;CCNL1,non_coding_transcript_exon_variant,,ENST00000474539,;CCNL1,non_coding_transcript_exon_variant,,ENST00000476744,;CCNL1,non_coding_transcript_exon_variant,,ENST00000464316,;CCNL1,non_coding_transcript_exon_variant,,ENST00000471247,;CCNL1,downstream_gene_variant,,ENST00000495471,;CCNL1,downstream_gene_variant,,ENST00000467849,;CCNL1,downstream_gene_variant,,ENST00000464575,;CCNL1,downstream_gene_variant,,ENST00000477127,;CCNL1,downstream_gene_variant,,ENST00000465947,;CCNL1,downstream_gene_variant,,ENST00000483789,;CCNL1,downstream_gene_variant,,ENST00000464679,;CCNL1,downstream_gene_variant,,ENST00000476367,;CCNL1,downstream_gene_variant,,ENST00000481173,;CCNL1,downstream_gene_variant,,ENST00000478454,;CCNL1,downstream_gene_variant,,ENST00000467081,;CCNL1,downstream_gene_variant,,ENST00000479596,;	1547	187	156	SUCCESS
MST1	4485	.	GRCh37	3	49722762	49722762	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150169514	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	107	0	ENST00000449682.2:c.1477C>T	p.Arg493Cys	p.R493C	ENST00000449682	NM_020998.3	493	Cgt/Tgt	0	A:0.0011	A:0.0015	.	A:0	.	A	R/C	protein_coding	YES	CCDS33757.2	1477	RADIA|MUTECT|MUSE|VARSCANS	.	GGAACGCCGCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF43,PIRSF_domain:PIRSF001152,PIRSF_domain:PIRSF500185,Superfamily_domains:SSF50494	A:0	A:0	ENSP00000414287	A:0	13/18	.	.	.	.	.	.	.	.	rs150169514	13/18	PASS	ENST00000449682	Transcript	.	A:0.0004	ENSG00000173531	7380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	A:0	deleterious(0.03)	.	.	MST1	HGNC	G3XAK1_HUMAN	.	UPI0000EE2A31	SNV	MST1,missense_variant,p.Arg493Cys,ENST00000449682,;MST1,3_prime_UTR_variant,,ENST00000383728,;APEH,downstream_gene_variant,,ENST00000296456,;APEH,downstream_gene_variant,,ENST00000438011,;RNF123,upstream_gene_variant,,ENST00000454491,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000327697,;RNF123,upstream_gene_variant,,ENST00000432042,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,downstream_gene_variant,,ENST00000494828,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000498021,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000484269,;MST1,non_coding_transcript_exon_variant,,ENST00000497359,;MST1,non_coding_transcript_exon_variant,,ENST00000481930,;MST1,non_coding_transcript_exon_variant,,ENST00000493836,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;MST1,downstream_gene_variant,,ENST00000494809,;APEH,downstream_gene_variant,,ENST00000480772,;APEH,downstream_gene_variant,,ENST00000469362,;RNF123,upstream_gene_variant,,ENST00000443204,;MST1,upstream_gene_variant,,ENST00000484144,;RNF123,upstream_gene_variant,,ENST00000486102,;MST1,downstream_gene_variant,,ENST00000492370,;RNF123,upstream_gene_variant,,ENST00000487805,;AC099668.5,upstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,downstream_gene_variant,,ENST00000489007,;MST1,downstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,downstream_gene_variant,,ENST00000480268,;RNF123,upstream_gene_variant,,ENST00000457726,;	1839	107	110	SUCCESS
CADPS	8618	.	GRCh37	3	62484884	62484884	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	67	246	0	ENST00000383710.4:c.2659G>A	p.Glu887Lys	p.E887K	ENST00000383710	NM_003716.3	887	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46858.1	2659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTCAGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06292,hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	18/30	.	.	.	.	.	.	.	.	COSM1670305,COSM1670304	18/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.621)	.	deleterious(0.01)	1,1	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Glu864Lys,ENST00000357948,;CADPS,missense_variant,p.Glu194Lys,ENST00000491424,;CADPS,missense_variant,p.Glu904Lys,ENST00000283269,;CADPS,missense_variant,p.Glu887Lys,ENST00000383710,;CADPS,non_coding_transcript_exon_variant,,ENST00000478570,;	3009	246	261	SUCCESS
PCDH18	54510	.	GRCh37	4	138451498	138451498	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200753356	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	46	249	0	ENST00000344876.4:c.1745G>A	p.Arg582His	p.R582H	ENST00000344876	NM_019035.3	582	cGt/cAt	0	T:0	T:0	.	T:0.0029	.	T	R/H	protein_coding	YES	CCDS34064.1	1745	RADIA|MUTECT|MUSE|VARSCANS	.	TATTACGCAAT	SITE|p.R582H|c.1745G>A|3,BUFFER|p.T585M|c.1754C>T|3,BUFFER|p.R582C|c.1744C>T|4	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	T:0	T:0.0001	ENSP00000355082	T:0	1/4	.	.	.	.	.	.	.	.	rs200753356,COSM84869	1/4	PASS	ENST00000344876	Transcript	.	T:0.0008	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.002)	T:0.002	tolerated(0.58)	0,1	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Arg582His,ENST00000344876,;PCDH18,missense_variant,p.Arg362His,ENST00000507846,;PCDH18,missense_variant,p.Arg582His,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	2132	249	290	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160225597	160225597	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	288	42	378	0	ENST00000264431.4:c.164G>C	p.Gly55Ala	p.G55A	ENST00000264431	NM_014247.2	55	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS43277.1	164	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202	.	.	ENSP00000264431	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	SNV	RAPGEF2,missense_variant,p.Gly36Ala,ENST00000514565,;RAPGEF2,missense_variant,p.Gly55Ala,ENST00000264431,;RAPGEF2,missense_variant,p.Gly53Ala,ENST00000510510,;RAPGEF2,missense_variant,p.Gly211Ala,ENST00000505478,;RAPGEF2,5_prime_UTR_variant,,ENST00000511336,;RAPGEF2,non_coding_transcript_exon_variant,,ENST00000504604,;	583	378	330	SUCCESS
PCDHA12	56137	.	GRCh37	5	140255564	140255564	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	81	0	ENST00000398631.2:c.507C>G	p.Thr169=	p.T169=	ENST00000398631	NM_018903.2	169	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS47285.1	507	MUTECT|MUSE|VARSCANS	.	TTGACCTATGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,synonymous_variant,p.%3D,ENST00000398631,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	507	81	65	SUCCESS
FOXK1	221937	.	GRCh37	7	4799104	4799104	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs761287902	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	27	0	ENST00000328914.4:c.1574T>G	p.Val525Gly	p.V525G	ENST00000328914	NM_001037165.1	525	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS34591.1	1574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTCAGGG	NONE	.	.	hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829	.	.	ENSP00000328720	.	7/9	.	.	.	.	.	.	.	.	rs761287902	7/9	PASS	ENST00000328914	Transcript	.	.	ENSG00000164916	23480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	deleterious(0.03)	.	FOXK1_HUMAN	FOXK1	HGNC	B3KV39_HUMAN	.	UPI00004158EB	SNV	FOXK1,missense_variant,p.Val362Gly,ENST00000446823,;FOXK1,missense_variant,p.Val525Gly,ENST00000328914,;FOXK1,downstream_gene_variant,,ENST00000460979,;FOXK1,non_coding_transcript_exon_variant,,ENST00000496023,;	1574	27	60	SUCCESS
LAMP2	3920	.	GRCh37	X	119590608	119590608	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	rs757589432	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	367	79	752	1	ENST00000200639.4:c.81T>G	p.Tyr27Ter	p.Y27*	ENST00000200639		27	taT/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS48159.1	81	RADIA|MUTECT|MUSE|VARSCANS	.	AATGCATAAGA	NONE	.	.	hmmpanther:PTHR11506:SF6,hmmpanther:PTHR11506	.	.	ENSP00000408411	.	2/9	.	.	.	.	.	.	.	.	rs757589432	2/9	PASS	ENST00000434600	Transcript	.	.	ENSG00000005893	6501	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LAMP2_HUMAN	LAMP2	HGNC	.	.	UPI0000211E47	SNV	LAMP2,stop_gained,p.Tyr27Ter,ENST00000434600,;LAMP2,stop_gained,p.Tyr27Ter,ENST00000200639,;LAMP2,stop_gained,p.Tyr27Ter,ENST00000371335,;LAMP2,5_prime_UTR_variant,,ENST00000540603,;LAMP2,intron_variant,,ENST00000538785,;	277	753	447	SUCCESS
CUBN	8029	.	GRCh37	10	17153015	17153015	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	103	0	ENST00000377833.4:c.918C>G	p.Ile306Met	p.I306M	ENST00000377833	NM_001081.3	306	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS7113.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTGATATC	BUFFER|p.C303C|c.909C>T|3	.	.	Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,Superfamily_domains:SSF57196,Superfamily_domains:SSF57196	.	.	ENSP00000367064	.	9/67	.	.	.	.	.	.	.	.	.	9/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ile306Met,ENST00000377833,;	984	103	54	SUCCESS
DENND5B	160518	.	GRCh37	12	31604973	31604973	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	13	199	0	ENST00000389082.5:c.1530del	p.Phe510LeufsTer23	p.F510Lfs*23	ENST00000389082	NM_144973.3	510	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS44857.1	1530	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTGTAAAACG	NONE	.	.	SMART_domains:SM00801,Pfam_domain:PF03455,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50947	.	.	ENSP00000373734	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	deletion	DENND5B,frameshift_variant,p.Phe462LeufsTer23,ENST00000546299,;DENND5B,frameshift_variant,p.Phe545LeufsTer23,ENST00000536562,;DENND5B,frameshift_variant,p.Phe545LeufsTer23,ENST00000306833,;DENND5B,frameshift_variant,p.Phe510LeufsTer23,ENST00000389082,;DENND5B,frameshift_variant,p.Phe532LeufsTer23,ENST00000354285,;snoU13,downstream_gene_variant,,ENST00000458765,;	1795	199	106	SUCCESS
TUBA1B	10376	.	GRCh37	12	49522077	49522077	+	synonymous_variant	Silent	SNP	G	G	A	rs763375689	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	24	250	0	ENST00000336023.5:c.1020C>T	p.Ser340=	p.S340=	ENST00000336023	NM_006082.2	340	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS31792.1	1020	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGCTGCG	NONE	byFrequency	.	hmmpanther:PTHR11588:SF65,hmmpanther:PTHR11588,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01162	.	.	ENSP00000336799	.	4/4	.	.	.	.	.	.	.	.	rs763375689	4/4	PASS	ENST00000336023	Transcript	.	.	ENSG00000123416	18809	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBA1B_HUMAN	TUBA1B	HGNC	F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN,C9JDS9_HUMAN	.	UPI00000015EA	SNV	TUBA1B,synonymous_variant,p.%3D,ENST00000336023,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;TUBA1B,downstream_gene_variant,,ENST00000547476,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000547387,;RP11-386G11.10,intron_variant,,ENST00000548149,;RP11-386G11.10,intron_variant,,ENST00000552893,;RP11-386G11.10,upstream_gene_variant,,ENST00000547712,;Y_RNA,downstream_gene_variant,,ENST00000363439,;RP11-386G11.10,upstream_gene_variant,,ENST00000551496,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;	1115	250	145	SUCCESS
SLC10A2	6555	.	GRCh37	13	103698606	103698606	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	24	217	1	ENST00000245312.3:c.924T>C	p.Tyr308=	p.Y308=	ENST00000245312	NM_000452.2	308	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS9506.1	924	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACATAAAC	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19	.	.	ENSP00000245312	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000245312	Transcript	.	.	ENSG00000125255	10906	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTCP2_HUMAN	SLC10A2	HGNC	.	.	UPI000013CB9B	SNV	SLC10A2,synonymous_variant,p.%3D,ENST00000245312,;	1521	218	172	SUCCESS
CHAMP1	283489	.	GRCh37	13	115089644	115089644	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	19	245	0	ENST00000361283.1:c.327T>C	p.Pro109=	p.P109=	ENST00000361283	NM_032436.2	109	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9545.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTCCTCT	NONE	.	.	.	.	.	ENSP00000354730	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000361283	Transcript	.	.	ENSG00000198824	20311	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHAP1_HUMAN	CHAMP1	HGNC	S4R3K0_HUMAN	.	UPI00001C1F5B	SNV	CHAMP1,synonymous_variant,p.%3D,ENST00000361283,;CHAMP1,synonymous_variant,p.%3D,ENST00000463003,;CHAMP1,downstream_gene_variant,,ENST00000478022,;	636	245	131	SUCCESS
SUGT1	10910	.	GRCh37	13	53237230	53237230	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	11	238	0	ENST00000343788.6:c.479-1G>C		p.X160_splice	ENST00000343788	NM_001130912.1	160		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45050.1	.	MUTECT|MUSE|VARSCANS	.	TAATAGGCTCA	NONE	.	.	.	.	.	ENSP00000367208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343788	Transcript	.	.	ENSG00000165416	16987	.	.	HIGH	7/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SUGT1_HUMAN	SUGT1	HGNC	.	.	UPI00001CDFF4	SNV	SUGT1,splice_acceptor_variant,,ENST00000343788,;SUGT1,splice_acceptor_variant,,ENST00000310528,;SUGT1,splice_acceptor_variant,,ENST00000535397,;SUGT1,splice_acceptor_variant,,ENST00000483074,;	.	238	142	SUCCESS
NPC2	10577	.	GRCh37	14	74960002	74960002	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs770614463	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	124	0	ENST00000555619.1:c.-25C>T		p.*9*	ENST00000555619	NM_006432.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32121.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCGGGAAA	NONE	.	.	.	.	.	ENSP00000451112	.	1/5	.	.	.	.	.	.	.	.	rs770614463	1/5	PASS	ENST00000555619	Transcript	.	.	ENSG00000119655	14537	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPC2_HUMAN	NPC2	HGNC	.	.	UPI0000062218	SNV	NPC2,5_prime_UTR_variant,,ENST00000555592,;NPC2,5_prime_UTR_variant,,ENST00000557510,;NPC2,5_prime_UTR_variant,,ENST00000434013,;NPC2,5_prime_UTR_variant,,ENST00000553490,;NPC2,5_prime_UTR_variant,,ENST00000555619,;NPC2,intron_variant,,ENST00000556009,;LTBP2,downstream_gene_variant,,ENST00000261978,;ISCA2,upstream_gene_variant,,ENST00000554924,;NPC2,upstream_gene_variant,,ENST00000238633,;ISCA2,upstream_gene_variant,,ENST00000298818,;ISCA2,upstream_gene_variant,,ENST00000556816,;NPC2,upstream_gene_variant,,ENST00000541064,;ISCA2,upstream_gene_variant,,ENST00000555139,;NPC2,upstream_gene_variant,,ENST00000554482,;	214	124	46	SUCCESS
CYP1A2	1544	.	GRCh37	15	75047231	75047231	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	127	0	ENST00000343932.4:c.1353T>C	p.Phe451=	p.F451=	ENST00000343932	NM_000761.3	451	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS32293.1	1353	RADIA|MUTECT|VARSCANS	.	CTGTTTGGCAT	NONE	.	.	hmmpanther:PTHR24299:SF7,hmmpanther:PTHR24299,PROSITE_patterns:PS00086,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463	.	.	ENSP00000342007	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000343932	Transcript	1	.	ENSG00000140505	2596	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP1A2_HUMAN	CYP1A2	HGNC	.	.	UPI0000073775	SNV	CYP1A2,synonymous_variant,p.%3D,ENST00000343932,;	1416	127	48	SUCCESS
PLCG2	5336	.	GRCh37	16	81819689	81819689	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	97	0	ENST00000359376.3:c.95G>A	p.Ser32Asn	p.S32N	ENST00000359376	NM_002661.3	32	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS42204.1	95	RADIA|MUTECT	.	GTTCAGCTTCC	NONE	.	.	Superfamily_domains:SSF50729,PIRSF_domain:PIRSF000952,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,PROSITE_profiles:PS50003	.	.	ENSP00000352336	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000359376	Transcript	.	.	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.27)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Ser32Asn,ENST00000359376,;PLCG2,missense_variant,p.Ser32Asn,ENST00000565054,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,non_coding_transcript_exon_variant,,ENST00000569929,;	309	97	37	SUCCESS
ULK2	9706	.	GRCh37	17	19705089	19705089	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	88	0	ENST00000361658.2:c.1441+1G>T		p.X481_splice	ENST00000361658	NM_001142610.1	481		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11213.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCCAAA	NONE	.	.	.	.	.	ENSP00000378914	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395544	Transcript	.	.	ENSG00000083290	13480	.	.	HIGH	16/26	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ULK2_HUMAN	ULK2	HGNC	.	.	UPI000013D19B	SNV	ULK2,splice_donor_variant,,ENST00000395544,;ULK2,splice_donor_variant,,ENST00000361658,;ULK2,splice_donor_variant,,ENST00000580130,;ULK2,downstream_gene_variant,,ENST00000574854,;	.	88	60	SUCCESS
TCAP	8557	.	GRCh37	17	37822111	37822111	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	55	0	ENST00000309889.2:c.253T>C	p.Tyr85His	p.Y85H	ENST00000309889		85	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS11342.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTACCAG	NONE	.	.	hmmpanther:PTHR15143,hmmpanther:PTHR15143:SF0,Pfam_domain:PF09470	.	.	ENSP00000312624	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309889	Transcript	.	.	ENSG00000173991	11610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.1)	.	TELT_HUMAN	TCAP	HGNC	A9QT26_HUMAN,A2TDC0_HUMAN	.	UPI0000136BAD	SNV	TCAP,missense_variant,p.Tyr61His,ENST00000578283,;TCAP,missense_variant,p.Tyr85His,ENST00000309889,;PNMT,upstream_gene_variant,,ENST00000394246,;PNMT,upstream_gene_variant,,ENST00000269582,;STARD3,downstream_gene_variant,,ENST00000336308,;STARD3,downstream_gene_variant,,ENST00000544210,;STARD3,downstream_gene_variant,,ENST00000394250,;STARD3,downstream_gene_variant,,ENST00000580611,;PNMT,upstream_gene_variant,,ENST00000581428,;STARD3,downstream_gene_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000584850,;STARD3,downstream_gene_variant,,ENST00000578384,;STARD3,downstream_gene_variant,,ENST00000583884,;STARD3,downstream_gene_variant,,ENST00000481171,;STARD3,downstream_gene_variant,,ENST00000488876,;STARD3,downstream_gene_variant,,ENST00000578577,;STARD3,downstream_gene_variant,,ENST00000585269,;STARD3,downstream_gene_variant,,ENST00000471896,;STARD3,downstream_gene_variant,,ENST00000578686,;	1426	55	30	SUCCESS
GGT6	124975	.	GRCh37	17	4461436	4461436	+	synonymous_variant	Silent	SNP	A	A	G	rs762232053	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	87	0	ENST00000574154.1:c.1356T>C	p.Gly452=	p.G452=	ENST00000574154	NM_001288702.1	452	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS45582.1	1356	RADIA|VARSCANS	.	TGCTGACCCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000458307	.	4/4	.	.	.	.	.	.	.	.	rs762232053	4/4	PASS	ENST00000574154	Transcript	.	.	ENSG00000167741	26891	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GGT6_HUMAN	GGT6	HGNC	B4DPG6_HUMAN	.	UPI0000200684	SNV	GGT6,synonymous_variant,p.%3D,ENST00000573591,;GGT6,synonymous_variant,p.%3D,ENST00000301395,;GGT6,synonymous_variant,p.%3D,ENST00000381550,;GGT6,synonymous_variant,p.%3D,ENST00000574154,;MYBBP1A,upstream_gene_variant,,ENST00000254718,;MYBBP1A,upstream_gene_variant,,ENST00000381556,;MYBBP1A,upstream_gene_variant,,ENST00000573116,;GGT6,downstream_gene_variant,,ENST00000574584,;MYBBP1A,upstream_gene_variant,,ENST00000570986,;GGT6,downstream_gene_variant,,ENST00000575573,;	1653	87	33	SUCCESS
IMPACT	55364	.	GRCh37	18	22029801	22029801	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767855847	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	6	104	0	ENST00000284202.4:c.778G>A	p.Val260Ile	p.V260I	ENST00000284202	NM_018439.3	260	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS11886.1	778	MUTECT|MUSE|VARSCANS	.	AGAATGTCATG	NONE	byFrequency	.	Superfamily_domains:SSF54211,Gene3D:2cveA01,Pfam_domain:PF01205,PROSITE_patterns:PS00910,hmmpanther:PTHR16301	.	.	ENSP00000284202	.	10/11	.	.	.	.	.	.	.	.	rs767855847	10/11	PASS	ENST00000284202	Transcript	.	.	ENSG00000154059	20387	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	IMPCT_HUMAN	IMPACT	HGNC	J3KT25_HUMAN	.	UPI000007006B	SNV	IMPACT,missense_variant,p.Val22Ile,ENST00000581278,;IMPACT,missense_variant,p.Val260Ile,ENST00000284202,;IMPACT,downstream_gene_variant,,ENST00000585067,;IMPACT,non_coding_transcript_exon_variant,,ENST00000580706,;IMPACT,upstream_gene_variant,,ENST00000580035,;	919	104	69	SUCCESS
DSG3	1830	.	GRCh37	18	29045290	29045290	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	9	246	0	ENST00000257189.4:c.1281G>C	p.Met427Ile	p.M427I	ENST00000257189	NM_001944.2	427	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS11898.1	1281	MUTECT|MUSE	.	GTCATGGGACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000257189	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000257189	Transcript	.	.	ENSG00000134757	3050	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.073)	.	tolerated(1)	.	DSG3_HUMAN	DSG3	HGNC	.	.	UPI000013CF4B	SNV	DSG3,missense_variant,p.Met427Ile,ENST00000257189,;	1364	246	134	SUCCESS
ZNF271	0	.	GRCh37	18	32889822	32889822	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	87	0	ENST00000399070.3:n.4216G>T		p.*1406*	ENST00000399070				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|VARSCANS	.	CATGAGATTGG	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399070	Transcript	.	.	ENSG00000257267	13065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF271	HGNC	.	.	.	SNV	ZNF271,non_coding_transcript_exon_variant,,ENST00000399070,;ZNF271,downstream_gene_variant,,ENST00000465539,;ZNF271,downstream_gene_variant,,ENST00000540308,;	4216	87	41	SUCCESS
LAMA1	284217	.	GRCh37	18	7016513	7016513	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773536918	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	58	0	ENST00000389658.3:c.2966C>A	p.Ala989Asp	p.A989D	ENST00000389658	NM_005559.3	989	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS32787.1	2966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGGCGTAG	NONE	byFrequency	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000374309	.	21/63	.	.	.	.	.	.	.	.	rs773536918	21/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.48)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Ala989Asp,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	3060	58	35	SUCCESS
ZNF574	64763	.	GRCh37	19	42583630	42583630	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs139212245	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	42	0	ENST00000359044.4:c.872G>T	p.Arg291Leu	p.R291L	ENST00000359044	NM_022752.5	291	cGc/cTc	0	A:0.0007	.	.	.	.	T	R/L	protein_coding	YES	CCDS12596.1	872	MUTECT|MUSE	.	GGGGCGCAGGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF38	.	A:0	ENSP00000469029	.	2/2	.	.	.	.	.	.	.	.	rs139212245	2/2	PASS	ENST00000600245	Transcript	.	.	ENSG00000105732	26166	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.726)	.	tolerated(0.07)	.	ZN574_HUMAN	ZNF574	HGNC	Q9NT61_HUMAN,M0R133_HUMAN	.	UPI00001AE536	SNV	ZNF574,missense_variant,p.Arg381Leu,ENST00000222339,;ZNF574,missense_variant,p.Arg291Leu,ENST00000359044,;ZNF574,missense_variant,p.Arg291Leu,ENST00000600245,;ZNF574,downstream_gene_variant,,ENST00000597391,;CTB-59C6.3,intron_variant,,ENST00000594531,;	1527	42	21	SUCCESS
TEX101	83639	.	GRCh37	19	43920572	43920572	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	131	0	ENST00000598265.1:c.256G>A	p.Glu86Lys	p.E86K	ENST00000598265	NM_001130011.1	86	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12619.1	310	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGAGGAG	NONE	.	.	hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF3	.	.	ENSP00000472308	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000602198	Transcript	.	.	ENSG00000131126	30722	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.048)	.	tolerated(0.84)	.	TX101_HUMAN	TEX101	HGNC	.	.	UPI000013CDD3	SNV	TEX101,missense_variant,p.Glu104Lys,ENST00000602198,;TEX101,missense_variant,p.Glu104Lys,ENST00000253435,;TEX101,missense_variant,p.Glu86Lys,ENST00000598265,;TEX101,non_coding_transcript_exon_variant,,ENST00000601707,;	752	131	86	SUCCESS
DHDH	27294	.	GRCh37	19	49442937	49442937	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs35453148	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	50	0	ENST00000221403.2:c.598G>T	p.Val200Leu	p.V200L	ENST00000221403	NM_014475.3	200	Gtg/Ttg	0	A:0.0002	A:0.0015	.	A:0	.	T	V/L	protein_coding	YES	CCDS12741.1	598	RADIA|MUTECT	.	CTGTCGTGGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22604:SF96,hmmpanther:PTHR22604,Gene3D:3.30.360.10,Superfamily_domains:SSF55347	A:0	A:0.0001	ENSP00000221403	A:0	4/7	.	.	.	.	.	.	.	.	rs35453148,COSM255837	4/7	PASS	ENST00000221403	Transcript	.	A:0.0004	ENSG00000104808	17887	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.03)	A:0	tolerated(0.33)	0,1	DHDH_HUMAN	DHDH	HGNC	.	.	UPI000006DD01	SNV	DHDH,missense_variant,p.Val200Leu,ENST00000221403,;DHDH,missense_variant,p.Val200Leu,ENST00000522614,;DHDH,intron_variant,,ENST00000523250,;DHDH,missense_variant,p.Arg133Leu,ENST00000520557,;	638	50	23	SUCCESS
ZNF471	57573	.	GRCh37	19	57027722	57027722	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	217	0	ENST00000308031.5:c.112T>G	p.Leu38Val	p.L38V	ENST00000308031	NM_020813.2	38	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12945.1	112	MUTECT|MUSE|VARSCANS	.	AGCGTTTATAC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF212,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000309161	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000308031	Transcript	.	.	ENSG00000196263	23226	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.874)	.	deleterious(0.04)	.	ZN471_HUMAN	ZNF471	HGNC	K7EPX1_HUMAN	.	UPI0000073465	SNV	ZNF471,missense_variant,p.Leu38Val,ENST00000591537,;ZNF471,missense_variant,p.Leu38Val,ENST00000308031,;ZNF471,missense_variant,p.Leu38Val,ENST00000591759,;ZNF471,intron_variant,,ENST00000593197,;	245	217	125	SUCCESS
TPX2	22974	.	GRCh37	20	30365314	30365314	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	122	0	ENST00000300403.6:c.755G>T	p.Ser252Ile	p.S252I	ENST00000300403	NM_012112.4	252	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS13190.1	755	MUTECT|MUSE|VARSCANS	.	AGTGAGCCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9	.	.	ENSP00000300403	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000300403	Transcript	.	.	ENSG00000088325	1249	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.44)	.	TPX2_HUMAN	TPX2	HGNC	Q96FC3_HUMAN,Q643R0_HUMAN,B3KM90_HUMAN	.	UPI00000015BB	SNV	TPX2,missense_variant,p.Ser252Ile,ENST00000300403,;TPX2,missense_variant,p.Ser252Ile,ENST00000340513,;	1283	122	56	SUCCESS
AC008132.13	0	.	GRCh37	22	18835268	18835268	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs544431357	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	32	0	ENST00000342005.4:c.824C>T	p.Pro275Leu	p.P275L	ENST00000342005		275	cCt/cTt	0	.	T:0	.	T:0	.	T	P/L	protein_coding	YES	.	824	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCTGCCA	NONE	by1000G	.	hmmpanther:PTHR15566	T:0	.	ENSP00000342394	T:0.001	1/2	.	.	.	.	.	.	.	.	rs544431357	1/2	PASS	ENST00000342005	Transcript	.	T:0.0002	ENSG00000161103	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.864)	T:0	deleterious(0.02)	.	.	AC008132.13	Clone_based_vega_gene	E2QRI0_HUMAN	.	UPI000022B8E1	SNV	AC008132.13,missense_variant,p.Pro275Leu,ENST00000342005,;AC008132.13,upstream_gene_variant,,ENST00000445398,;GGT3P,upstream_gene_variant,,ENST00000445651,;AC008132.13,upstream_gene_variant,,ENST00000412938,;	945	33	24	SUCCESS
PIWIL3	440822	.	GRCh37	22	25153964	25153964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1465462094	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	165	0	ENST00000332271.5:c.266C>T	p.Pro89Leu	p.P89L	ENST00000332271	NM_001255975.1	89	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33623.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGGCGCT	NONE	.	.	hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892	.	.	ENSP00000330031	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000332271	Transcript	.	.	ENSG00000184571	18443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	PIWL3_HUMAN	PIWIL3	HGNC	.	.	UPI00002073D6	SNV	PIWIL3,missense_variant,p.Pro89Leu,ENST00000332271,;PIWIL3,5_prime_UTR_variant,,ENST00000527701,;PIWIL3,5_prime_UTR_variant,,ENST00000533313,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;	683	165	83	SUCCESS
TANK	10010	.	GRCh37	2	162061220	162061220	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	74	600	0	ENST00000259075.2:c.243C>A	p.Asp81Glu	p.D81E	ENST00000259075	NM_004180.2	81	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS2215.1	243	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACAGTGA	NONE	.	.	hmmpanther:PTHR15249:SF0,hmmpanther:PTHR15249	.	.	ENSP00000376505	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000392749	Transcript	.	.	ENSG00000136560	11562	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.2)	.	TANK_HUMAN	TANK	HGNC	Q53TI5_HUMAN,Q4ZG76_HUMAN,E7EWR8_HUMAN	.	UPI000013D02B	SNV	TANK,missense_variant,p.Asp139Glu,ENST00000406287,;TANK,missense_variant,p.Asp82Glu,ENST00000429217,;TANK,missense_variant,p.Asp82Glu,ENST00000432002,;TANK,missense_variant,p.Asp81Glu,ENST00000457476,;TANK,missense_variant,p.Asp140Glu,ENST00000402568,;TANK,missense_variant,p.Asp81Glu,ENST00000403609,;TANK,missense_variant,p.Asp81Glu,ENST00000259075,;TANK,missense_variant,p.Asp81Glu,ENST00000405852,;TANK,missense_variant,p.Asp81Glu,ENST00000392749,;TANK,missense_variant,p.Asp81Glu,ENST00000440506,;TANK,missense_variant,p.Asp107Glu,ENST00000456358,;TANK,missense_variant,p.Asp81Glu,ENST00000457887,;TANK,missense_variant,p.Asp81Glu,ENST00000432692,;TANK,3_prime_UTR_variant,,ENST00000441987,;TANK,non_coding_transcript_exon_variant,,ENST00000468831,;	482	601	422	SUCCESS
ZSWIM2	151112	.	GRCh37	2	187693106	187693106	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766394609	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	21	218	0	ENST00000295131.2:c.1507G>T	p.Val503Leu	p.V503L	ENST00000295131	NM_182521.2	503	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS33348.1	1507	RADIA|MUTECT|MUSE|VARSCANS	.	TGACACAGTGG	NONE	.	.	hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0	.	.	ENSP00000295131	.	9/9	.	.	.	.	.	.	.	.	rs766394609	9/9	PASS	ENST00000295131	Transcript	.	.	ENSG00000163012	30990	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.27)	.	ZSWM2_HUMAN	ZSWIM2	HGNC	.	.	UPI000013E20D	SNV	ZSWIM2,missense_variant,p.Val503Leu,ENST00000295131,;	1547	218	154	SUCCESS
MAP2	4133	.	GRCh37	2	210560370	210560370	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	130	0	ENST00000360351.4:c.3476C>G	p.Ser1159Cys	p.S1159C	ENST00000360351	NM_002374.3	1159	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2384.1	3476	MUTECT|MUSE|VARSCANS	.	ATCATCTCTAA	NONE	.	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.976)	.	deleterious_low_confidence(0.01)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Ser1155Cys,ENST00000447185,;MAP2,missense_variant,p.Ser1159Cys,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	3982	130	101	SUCCESS
ABHD1	84696	.	GRCh37	2	27351823	27351823	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370556895	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	90	0	ENST00000316470.4:c.286C>A	p.Gln96Lys	p.Q96K	ENST00000316470	NM_032604.3	96	Caa/Aaa	0	T:0	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1736.1	286	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCAAACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10794:SF41,hmmpanther:PTHR10794,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF005211,Superfamily_domains:SSF53474	.	T:0.0001	ENSP00000326491	.	3/9	.	.	.	.	.	.	.	.	rs370556895	3/9	PASS	ENST00000316470	Transcript	.	.	ENSG00000143994	17553	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.055)	.	tolerated(0.97)	.	ABHD1_HUMAN	ABHD1	HGNC	.	.	UPI000013FDC4	SNV	ABHD1,missense_variant,p.Gln33Lys,ENST00000416071,;ABHD1,missense_variant,p.Gln96Lys,ENST00000316470,;PREB,downstream_gene_variant,,ENST00000456259,;PREB,downstream_gene_variant,,ENST00000430533,;PREB,downstream_gene_variant,,ENST00000406567,;PREB,downstream_gene_variant,,ENST00000260643,;PREB,downstream_gene_variant,,ENST00000416802,;ABHD1,missense_variant,p.Gln96Lys,ENST00000448950,;ABHD1,missense_variant,p.Gln33Lys,ENST00000420647,;ABHD1,non_coding_transcript_exon_variant,,ENST00000489120,;ABHD1,upstream_gene_variant,,ENST00000496739,;PREB,downstream_gene_variant,,ENST00000474802,;PREB,downstream_gene_variant,,ENST00000441451,;PREB,downstream_gene_variant,,ENST00000468045,;PREB,downstream_gene_variant,,ENST00000444452,;	400	90	55	SUCCESS
LRRC3B	116135	.	GRCh37	3	26751136	26751136	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	128	0	ENST00000396641.2:c.-28G>A		p.*10*	ENST00000396641	NM_052953.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2644.1	.	MUTECT|MUSE	.	GGAATGGGCTC	NONE	.	.	.	.	.	ENSP00000379880	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396641	Transcript	.	.	ENSG00000179796	28105	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRC3B_HUMAN	LRRC3B	HGNC	C9JMC7_HUMAN,C9J6A1_HUMAN	.	UPI000000D990	SNV	LRRC3B,5_prime_UTR_variant,,ENST00000414619,;LRRC3B,5_prime_UTR_variant,,ENST00000396641,;LRRC3B,5_prime_UTR_variant,,ENST00000456208,;LRRC3B,5_prime_UTR_variant,,ENST00000417744,;LRRC3B,5_prime_UTR_variant,,ENST00000432040,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	565	128	91	SUCCESS
GRM2	2912	.	GRCh37	3	51749655	51749664	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCATTGCC	CTTCATTGCC	-	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	CTTCATTGCC	CTTCATTGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	186	0	ENST00000395052.3:c.1866_1875del	p.Phe623SerfsTer92	p.F623Sfs*92	ENST00000395052	NM_000839.3	622	atCTTCATTGCC/at	0	.	.	.	.	.	-	IFIA/X	protein_coding	YES	CCDS2834.1	1866-1875	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCATCTTCATTGCCAAGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,Pfam_domain:PF00003	.	.	ENSP00000378492	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000395052	Transcript	.	.	ENSG00000164082	4594	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRM2_HUMAN	GRM2	HGNC	C9JD41_HUMAN	.	UPI000013E346	deletion	GRM2,frameshift_variant,p.Phe623SerfsTer92,ENST00000395052,;GRM2,intron_variant,,ENST00000442933,;GRM2,non_coding_transcript_exon_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000496661,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,3_prime_UTR_variant,,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	2100-2109	186	64	SUCCESS
MOCS2	4338	.	GRCh37	5	52402917	52402917	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	82	0	ENST00000396954.3:c.88G>T	p.Glu30Ter	p.E30*	ENST00000396954	NM_004531.4	30	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3958.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCAAAAG	NONE	.	.	hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF2	.	.	ENSP00000380157	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000396954	Transcript	1	.	ENSG00000164172	7193	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOC2B_HUMAN	MOCS2	HGNC	.	.	UPI000000DB29	SNV	MOCS2,stop_gained,p.Glu30Ter,ENST00000396954,;MOCS2,3_prime_UTR_variant,,ENST00000450852,;MOCS2,3_prime_UTR_variant,,ENST00000510818,;MOCS2,3_prime_UTR_variant,,ENST00000361377,;MOCS2,3_prime_UTR_variant,,ENST00000584946,;MOCS2,3_prime_UTR_variant,,ENST00000508922,;MOCS2,3_prime_UTR_variant,,ENST00000527216,;MOCS2,3_prime_UTR_variant,,ENST00000582677,;CTD-2366F13.1,upstream_gene_variant,,ENST00000499459,;CTD-2366F13.1,upstream_gene_variant,,ENST00000512301,;CTD-2366F13.1,upstream_gene_variant,,ENST00000502171,;MOCS2,non_coding_transcript_exon_variant,,ENST00000502402,;MOCS2,non_coding_transcript_exon_variant,,ENST00000514553,;	766	82	48	SUCCESS
IL6ST	3572	.	GRCh37	5	55260061	55260075	+	inframe_deletion	In_Frame_Del	DEL	AATACACAGTAGAAT	AATACACAGTAGAAT	-	.	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	AATACACAGTAGAAT	AATACACAGTAGAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	296	0	ENST00000336909.5:c.557_571del	p.Tyr186_Tyr190del	p.Y186_Y190del	ENST00000336909		186	tATTCTACTGTGTATTtt/ttt	0	.	.	.	.	.	-	YSTVYF/F	protein_coding	YES	CCDS3971.1	557-571	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACAAAATACACAGTAGAATAATCA	CODON|p.S187_Y190delSTVY|c.560_571del12|3,CODON|p.Y186_Y190delYSTVY|c.557_571del15|3	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	COSM251361	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000522633,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000381287,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000336909,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000381298,;IL6ST,inframe_deletion,p.Ile44_Ile48del,ENST00000396816,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000536319,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000381294,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	870-884	296	121	SUCCESS
POU5F2	134187	.	GRCh37	5	93076777	93076777	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	66	0	ENST00000510627.4:c.493T>G	p.Cys165Gly	p.C165G	ENST00000510627	NM_153216.1	165	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS59489.1	493	RADIA|MUTECT|VARSCANS	.	GCGGCAGATGG	NONE	.	.	PROSITE_profiles:PS51179,hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636,PROSITE_patterns:PS00465,Gene3D:1.10.260.40,Pfam_domain:PF00157,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028	.	.	ENSP00000464890	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510627	Transcript	.	.	ENSG00000248483	26367	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.537)	.	deleterious(0)	.	PO5F2_HUMAN	POU5F2	HGNC	.	.	UPI0000135E4C	SNV	POU5F2,missense_variant,p.Cys165Gly,ENST00000510627,;FAM172A,intron_variant,,ENST00000509739,;FAM172A,intron_variant,,ENST00000505869,;FAM172A,intron_variant,,ENST00000509163,;FAM172A,intron_variant,,ENST00000395965,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;POU5F2,non_coding_transcript_exon_variant,,ENST00000606183,;FAM172A,intron_variant,,ENST00000502503,;	567	66	31	SUCCESS
FLOT1	10211	.	GRCh37	6	30697798	30697798	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	41	0	ENST00000376389.3:c.1254+1G>A		p.X418_splice	ENST00000376389	NM_005803.2	418		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4688.1	.	RADIA|VARSCANS	.	CCTCACCTGGG	NONE	.	.	.	.	.	ENSP00000365569	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376389	Transcript	.	.	ENSG00000137312	3757	.	.	HIGH	12/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FLOT1_HUMAN	FLOT1	HGNC	Q5ST80_HUMAN,A2AB13_HUMAN,A2AB12_HUMAN,A2AB10_HUMAN	.	UPI000000D73F	SNV	FLOT1,splice_donor_variant,,ENST00000376389,;FLOT1,splice_donor_variant,,ENST00000456573,;FLOT1,downstream_gene_variant,,ENST00000438162,;TUBB,downstream_gene_variant,,ENST00000396384,;TUBB,downstream_gene_variant,,ENST00000330914,;FLOT1,downstream_gene_variant,,ENST00000413165,;TUBB,downstream_gene_variant,,ENST00000327892,;TUBB,downstream_gene_variant,,ENST00000396389,;FLOT1,splice_donor_variant,,ENST00000487376,;FLOT1,downstream_gene_variant,,ENST00000476729,;	.	41	20	SUCCESS
LRRCC1	85444	.	GRCh37	8	86022370	86022370	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	106	0	ENST00000360375.3:c.331C>T	p.Leu111=	p.L111=	ENST00000360375	NM_033402.4	111	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43750.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATCTGACT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10588:SF31,hmmpanther:PTHR10588,Pfam_domain:PF12799,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000353538	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000360375	Transcript	.	.	ENSG00000133739	29373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRCC1_HUMAN	LRRCC1	HGNC	.	.	UPI000021002F	SNV	LRRCC1,synonymous_variant,p.%3D,ENST00000360375,;LRRCC1,synonymous_variant,p.%3D,ENST00000414626,;LRRCC1,3_prime_UTR_variant,,ENST00000522770,;LRRCC1,3_prime_UTR_variant,,ENST00000517875,;LRRCC1,3_prime_UTR_variant,,ENST00000523669,;LRRCC1,3_prime_UTR_variant,,ENST00000522567,;	480	106	83	SUCCESS
SECISBP2	79048	.	GRCh37	9	91961856	91961856	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	105	0	ENST00000375807.3:c.1495A>G	p.Ser499Gly	p.S499G	ENST00000375807	NM_024077.3	499	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS6683.1	1495	RADIA|VARSCANS	.	GCATGAGTCAA	NONE	.	.	hmmpanther:PTHR13284:SF9,hmmpanther:PTHR13284	.	.	ENSP00000364965	.	11/17	.	.	.	.	.	.	.	.	COSM1463506	11/17	PASS	ENST00000375807	Transcript	.	.	ENSG00000187742	30972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.005)	.	tolerated(0.16)	1	SEBP2_HUMAN	SECISBP2	HGNC	Q9H948_HUMAN,Q7L1Z0_HUMAN,Q6AW84_HUMAN,F8W892_HUMAN	.	UPI00001AEA0A	SNV	SECISBP2,missense_variant,p.Ser431Gly,ENST00000534113,;SECISBP2,missense_variant,p.Ser499Gly,ENST00000375807,;SECISBP2,missense_variant,p.Ser426Gly,ENST00000339901,;SECISBP2,upstream_gene_variant,,ENST00000498819,;	1566	105	42	SUCCESS
F8	2157	.	GRCh37	X	154124423	154124423	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	53	0	ENST00000360256.4:c.6358T>C	p.Phe2120Leu	p.F2120L	ENST00000360256	NM_000132.3	2120	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS35457.1	6358	RADIA|VARSCANS	.	GATAAACTGAG	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,Pfam_domain:PF00754,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000354,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000353393	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,missense_variant,p.Phe2120Leu,ENST00000360256,;CTD-2183H9.7,downstream_gene_variant,,ENST00000419615,;	6559	53	37	SUCCESS
ATRX	546	.	GRCh37	X	76972657	76972657	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	69	0	ENST00000373344.5:c.84A>G	p.Glu28=	p.E28=	ENST00000373344	NM_000489.3	28	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS14434.1	84	RADIA|MUTECT|VARSCANS	.	TCAGATTCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	.	ENSP00000362441	.	2/35	.	.	.	.	.	.	.	.	.	2/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,synonymous_variant,p.%3D,ENST00000395603,;ATRX,synonymous_variant,p.%3D,ENST00000373344,;ATRX,5_prime_UTR_variant,,ENST00000373341,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;	299	69	39	SUCCESS
TGIF2LY	90655	.	GRCh37	Y	3447285	3447285	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs759260514	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	128	0	ENST00000321217.4:c.-1T>A		p.*1*	ENST00000321217	NM_139214.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14775.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAATATGGA	NONE	byFrequency	.	.	.	.	ENSP00000318502	.	2/2	.	.	.	.	.	.	.	.	rs759260514	2/2	PASS	ENST00000321217	Transcript	.	.	ENSG00000176679	18569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TF2LY_HUMAN	TGIF2LY	HGNC	.	.	UPI0000074794	SNV	TGIF2LY,5_prime_UTR_variant,,ENST00000321217,;TGIF2LY,5_prime_UTR_variant,,ENST00000559055,;	108	128	56	SUCCESS
CPN1	1369	.	GRCh37	10	101802222	101802222	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	20	172	0	ENST00000370418.3:c.1339G>A	p.Glu447Lys	p.E447K	ENST00000370418	NM_001308.2	447	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7486.1	1339	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTTTCT	NONE	.	.	hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532	.	.	ENSP00000359446	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370418	Transcript	1	.	ENSG00000120054	2312	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.43)	.	CBPN_HUMAN	CPN1	HGNC	B1AP59_HUMAN,B1AP58_HUMAN	.	UPI00000012AC	SNV	CPN1,missense_variant,p.Glu447Lys,ENST00000370418,;	1591	172	148	SUCCESS
CNNM2	54805	.	GRCh37	10	104679587	104679587	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	37	0	ENST00000369878.4:c.1350G>A	p.Met450Ile	p.M450I	ENST00000369878	NM_017649.4	450	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS44474.1	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGACCCC	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF22,Gene3D:3.10.580.10,Superfamily_domains:SSF54631	.	.	ENSP00000358894	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000369878	Transcript	1	.	ENSG00000148842	103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	CNNM2_HUMAN	CNNM2	HGNC	.	.	UPI0000231CA6	SNV	CNNM2,missense_variant,p.Met450Ile,ENST00000369878,;CNNM2,missense_variant,p.Met450Ile,ENST00000433628,;CNNM2,missense_variant,p.Met450Ile,ENST00000369875,;RP11-724N1.1,downstream_gene_variant,,ENST00000610034,;	1538	37	59	SUCCESS
SORCS3	22986	.	GRCh37	10	106959776	106959776	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	6	88	0	ENST00000369699.4:c.-114C>T		p.*38*	ENST00000369699		677		0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7558.1	2029	MUTECT|MUSE	.	TCAGCCTCCGC	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000358715	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.206)	.	tolerated(0.88)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Leu677Phe,ENST00000369701,;SORCS3,5_prime_UTR_variant,,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	2256	88	137	SUCCESS
SMC3	9126	.	GRCh37	10	112343665	112343665	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	26	169	0	ENST00000361804.4:c.1036G>A	p.Glu346Lys	p.E346K	ENST00000361804	NM_005445.3	346	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31285.1	1036	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGAAACA	BUFFER|p.E343G|c.1028A>G|3	.	.	Pfam_domain:PF02463,hmmpanther:PTHR18937:SF164,hmmpanther:PTHR18937,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000354720	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000361804	Transcript	1	.	ENSG00000108055	2468	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.241)	.	tolerated(0.4)	.	SMC3_HUMAN	SMC3	HGNC	.	.	UPI0000135A8D	SNV	SMC3,missense_variant,p.Glu346Lys,ENST00000361804,;SMC3,downstream_gene_variant,,ENST00000462899,;	1162	169	187	SUCCESS
DCLRE1A	9937	.	GRCh37	10	115609989	115609989	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	6	115	0	ENST00000361384.2:c.875A>G	p.Asp292Gly	p.D292G	ENST00000361384	NM_014881.4	292	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7584.1	875	MUTECT|MUSE	.	TGAAGTCATTT	NONE	.	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6	.	.	ENSP00000355185	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000361384	Transcript	.	.	ENSG00000198924	17660	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.082)	.	deleterious(0.03)	.	DCR1A_HUMAN	DCLRE1A	HGNC	.	.	UPI000006EFFE	SNV	DCLRE1A,missense_variant,p.Asp292Gly,ENST00000361384,;DCLRE1A,missense_variant,p.Asp292Gly,ENST00000369305,;NHLRC2,upstream_gene_variant,,ENST00000369301,;DCLRE1A,downstream_gene_variant,,ENST00000476112,;NHLRC2,upstream_gene_variant,,ENST00000468890,;	1793	115	133	SUCCESS
CUZD1	50624	.	GRCh37	10	124605313	124605313	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866395304	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	62	0	ENST00000368904.1:c.47C>T	p.Ser16Phe	p.S16F	ENST00000368904		16	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7631.1	47	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	AACAGGAGAGA	NONE	.	.	PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000357900	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000368904	Transcript	.	.	ENSG00000138161	17937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.317)	.	tolerated_low_confidence(0.07)	.	CUZD1_HUMAN	CUZD1	HGNC	.	.	UPI000004C655	SNV	CUZD1,missense_variant,p.Ser16Phe,ENST00000392790,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368904,;CUZD1,missense_variant,p.Ser16Phe,ENST00000545804,;FAM24B,downstream_gene_variant,,ENST00000368896,;FAM24B,downstream_gene_variant,,ENST00000368898,;FAM24B,downstream_gene_variant,,ENST00000462859,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368900,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368901,;CUZD1,missense_variant,p.Ser16Phe,ENST00000338948,;	997	62	39	SUCCESS
CHST15	51363	.	GRCh37	10	125769678	125769678	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	29	0	ENST00000346248.5:c.1673G>A	p.Trp558Ter	p.W558*	ENST00000346248	NM_015892.4	558	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7638.1	1673	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCACGCA	NONE	.	.	hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333947	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000346248	Transcript	.	.	ENSG00000182022	18137	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHSTF_HUMAN	CHST15	HGNC	.	.	UPI000004D06B	SNV	CHST15,stop_gained,p.Trp558Ter,ENST00000435907,;CHST15,stop_gained,p.Trp558Ter,ENST00000346248,;	2316	29	72	SUCCESS
DOCK1	1793	.	GRCh37	10	128840966	128840966	+	synonymous_variant	Silent	SNP	C	C	A	rs763108134	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	16	144	0	ENST00000280333.6:c.2025C>A	p.Val675=	p.V675=	ENST00000280333	NM_001380.3	675	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	.	2025	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTCTTTGA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371	.	.	ENSP00000280333	.	20/52	.	.	.	.	.	.	.	.	rs763108134	20/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,synonymous_variant,p.%3D,ENST00000280333,;	2134	144	127	SUCCESS
MCM10	55388	.	GRCh37	10	13239672	13239672	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1405888729	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	14	140	0	ENST00000484800.2:c.2027C>T	p.Thr676Ile	p.T676I	ENST00000484800		676	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7096.1	2027	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACAAACC	NONE	.	.	hmmpanther:PTHR13454,Pfam_domain:PF09332	.	.	ENSP00000418268	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000484800	Transcript	.	.	ENSG00000065328	18043	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.1)	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,missense_variant,p.Thr676Ile,ENST00000484800,;MCM10,missense_variant,p.Thr675Ile,ENST00000378714,;MCM10,missense_variant,p.Thr675Ile,ENST00000378694,;MCM10,non_coding_transcript_exon_variant,,ENST00000481292,;MCM10,downstream_gene_variant,,ENST00000459751,;MCM10,upstream_gene_variant,,ENST00000485659,;	2130	140	128	SUCCESS
SUV39H2	79723	.	GRCh37	10	14939003	14939003	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	58	0	ENST00000354919.6:c.339del	p.Asp114ThrfsTer6	p.D114Tfs*6	ENST00000354919	NM_001193424.1	112	ccA/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS53494.1	336	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTCCAAAAGA	NONE	.	.	PROSITE_profiles:PS51579,hmmpanther:PTHR22884:SF284,hmmpanther:PTHR22884,PIRSF_domain:PIRSF009343	.	.	ENSP00000346997	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000354919	Transcript	.	.	ENSG00000152455	17287	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SUV92_HUMAN	SUV39H2	HGNC	C9JMB4_HUMAN,C9IYH9_HUMAN	.	UPI0000136177	deletion	SUV39H2,frameshift_variant,p.Asp54ThrfsTer6,ENST00000420416,;SUV39H2,frameshift_variant,p.Asp54ThrfsTer6,ENST00000412254,;SUV39H2,frameshift_variant,p.Asp114ThrfsTer6,ENST00000354919,;SUV39H2,frameshift_variant,p.Asp54ThrfsTer6,ENST00000313519,;SUV39H2,intron_variant,,ENST00000358298,;SUV39H2,intron_variant,,ENST00000378325,;SUV39H2,intron_variant,,ENST00000433779,;DCLRE1C,downstream_gene_variant,,ENST00000378289,;SUV39H2,3_prime_UTR_variant,,ENST00000378331,;	336	58	73	SUCCESS
DNAJC1	64215	.	GRCh37	10	22208853	22208853	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	104	0	ENST00000376980.3:c.543A>G	p.Glu181=	p.E181=	ENST00000376980	NM_022365.3	181	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS7136.1	543	MUTECT|MUSE|VARSCANS	.	AGTAGTTCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF130	.	.	ENSP00000366179	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000376980	Transcript	.	.	ENSG00000136770	20090	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DNJC1_HUMAN	DNAJC1	HGNC	Q96NY3_HUMAN	.	UPI0000049FEF	SNV	DNAJC1,missense_variant,p.Asn115Ser,ENST00000447548,;DNAJC1,synonymous_variant,p.%3D,ENST00000376980,;DNAJC1,downstream_gene_variant,,ENST00000376946,;DNAJC1,3_prime_UTR_variant,,ENST00000476103,;	834	104	39	SUCCESS
PITRM1	10531	.	GRCh37	10	3201169	3201169	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs373184654	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	66	195	0	ENST00000224949.4:c.1073A>G	p.Asn358Ser	p.N358S	ENST00000224949		358	aAt/aGt	0	C:0	.	.	.	.	C	N/S	protein_coding	YES	CCDS55699.1	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATTGGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF68,Pfam_domain:PF05193,Gene3D:3.30.830.10,Superfamily_domains:SSF63411	.	C:0.0001	ENSP00000370377	.	10/27	.	.	.	.	.	.	.	.	rs373184654	10/27	PASS	ENST00000380989	Transcript	.	.	ENSG00000107959	17663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.629)	.	deleterious(0.03)	.	PREP_HUMAN	PITRM1	HGNC	.	.	UPI00015E00B2	SNV	PITRM1,missense_variant,p.Asn326Ser,ENST00000451104,;PITRM1,missense_variant,p.Asn358Ser,ENST00000380989,;PITRM1,missense_variant,p.Asn358Ser,ENST00000224949,;PITRM1,upstream_gene_variant,,ENST00000380994,;PITRM1,upstream_gene_variant,,ENST00000430362,;PITRM1-AS1,intron_variant,,ENST00000598280,;PITRM1-AS1,intron_variant,,ENST00000601046,;PITRM1,downstream_gene_variant,,ENST00000488065,;	1112	195	209	SUCCESS
DIP2C	22982	.	GRCh37	10	390969	390969	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200340134	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	47	0	ENST00000280886.6:c.3313G>T	p.Val1105Phe	p.V1105F	ENST00000280886	NM_014974.2	1105	Gtc/Ttc	0	.	T:0.0008	.	T:0	.	A	V/F	protein_coding	YES	CCDS7054.1	3313	MUTECT|MUSE	.	CCTGACGTCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	T:0	.	ENSP00000280886	T:0	27/37	.	.	.	.	.	.	.	.	rs200340134	27/37	PASS	ENST00000280886	Transcript	.	T:0.0002	ENSG00000151240	29150	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.474)	T:0	tolerated(0.47)	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,missense_variant,p.Val1105Phe,ENST00000280886,;	3401	47	64	SUCCESS
ASAH2	56624	.	GRCh37	10	52008360	52008360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376205298	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	7	89	0	ENST00000395526.4:c.11G>A	p.Arg4His	p.R4H	ENST00000395526	NM_019893.2	4	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7239.2	11	MUTECT|MUSE	.	AGGTGCGTTTG	NONE	byCluster	.	.	.	T:0.0001	ENSP00000378897	.	1/20	.	.	.	.	.	.	.	.	rs376205298	1/20	PASS	ENST00000395526	Transcript	.	.	ENSG00000188611	18860	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.1)	.	ASAH2_HUMAN	ASAH2	HGNC	.	.	UPI00004042A7	SNV	ASAH2,missense_variant,p.Arg4His,ENST00000447815,;ASAH2,missense_variant,p.Arg4His,ENST00000395526,;ASAH2,upstream_gene_variant,,ENST00000329428,;	11	89	148	SUCCESS
FAM13C	220965	.	GRCh37	10	61029860	61029860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	10	169	0	ENST00000373868.2:c.602C>A	p.Pro201Gln	p.P201Q	ENST00000373868	NM_198215.3	201	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS7255.1	602	MUTECT|MUSE	.	GGACTGGTGAG	NONE	.	.	hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.776)	.	deleterious(0.02)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,missense_variant,p.Pro201Gln,ENST00000419214,;FAM13C,missense_variant,p.Pro201Gln,ENST00000422313,;FAM13C,missense_variant,p.Pro118Gln,ENST00000468840,;FAM13C,missense_variant,p.Pro201Gln,ENST00000373868,;FAM13C,missense_variant,p.Pro222Gln,ENST00000277705,;FAM13C,missense_variant,p.Pro222Gln,ENST00000442566,;FAM13C,missense_variant,p.Pro201Gln,ENST00000435852,;FAM13C,missense_variant,p.Pro118Gln,ENST00000373867,;FAM13C,upstream_gene_variant,,ENST00000468696,;FAM13C,non_coding_transcript_exon_variant,,ENST00000477101,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507568,;	690	169	213	SUCCESS
ANK3	288	.	GRCh37	10	61835056	61835056	+	synonymous_variant	Silent	SNP	C	C	T	rs548657898	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	52	174	1	ENST00000280772.2:c.5583G>A	p.Thr1861=	p.T1861=	ENST00000280772	NM_020987.3	1861	acG/acA	0	.	T:0.0008	.	T:0	.	T	T	protein_coding	YES	CCDS7258.1	5583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCGTAGT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	T:0	.	ENSP00000280772	T:0	37/44	.	.	.	.	.	.	.	.	rs548657898,COSM3439307	37/44	PASS	ENST00000280772	Transcript	1	T:0.0004	ENSG00000151150	494	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.001	.	0,1	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,synonymous_variant,p.%3D,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	5775	175	162	SUCCESS
EGR2	1959	.	GRCh37	10	64573581	64573581	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	43	1	ENST00000242480.3:c.817C>T	p.Leu273=	p.L273=	ENST00000242480	NM_001136177.1	273	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7267.1	817	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCAGGGTAA	NONE	.	.	hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF6	.	.	ENSP00000242480	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242480	Transcript	1	.	ENSG00000122877	3239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EGR2_HUMAN	EGR2	HGNC	.	.	UPI000013CB07	SNV	EGR2,synonymous_variant,p.%3D,ENST00000439032,;EGR2,synonymous_variant,p.%3D,ENST00000242480,;EGR2,synonymous_variant,p.%3D,ENST00000411732,;EGR2,downstream_gene_variant,,ENST00000493899,;	1143	44	45	SUCCESS
VDAC2	7417	.	GRCh37	10	76978832	76978832	+	synonymous_variant	Silent	SNP	G	G	A	rs140772969	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	74	0	ENST00000332211.6:c.162G>A	p.Thr54=	p.T54=	ENST00000332211	NM_003375.3	54	acG/acA	0	A:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS53544.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGTCCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11743,hmmpanther:PTHR11743:SF12,Pfam_domain:PF01459,Gene3D:2.40.160.10	.	A:0.0001	ENSP00000361635	.	6/11	.	.	.	.	.	.	.	.	rs140772969	6/11	PASS	ENST00000313132	Transcript	.	.	ENSG00000165637	12672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VDAC2_HUMAN	VDAC2	HGNC	A2A3S1_HUMAN	.	UPI00004589C0	SNV	VDAC2,synonymous_variant,p.%3D,ENST00000298468,;VDAC2,synonymous_variant,p.%3D,ENST00000332211,;VDAC2,synonymous_variant,p.%3D,ENST00000413289,;VDAC2,synonymous_variant,p.%3D,ENST00000344036,;VDAC2,synonymous_variant,p.%3D,ENST00000447677,;VDAC2,synonymous_variant,p.%3D,ENST00000543351,;VDAC2,synonymous_variant,p.%3D,ENST00000535553,;VDAC2,synonymous_variant,p.%3D,ENST00000313132,;VDAC2,non_coding_transcript_exon_variant,,ENST00000468285,;VDAC2,non_coding_transcript_exon_variant,,ENST00000472137,;VDAC2,non_coding_transcript_exon_variant,,ENST00000498394,;VDAC2,non_coding_transcript_exon_variant,,ENST00000481876,;VDAC2,non_coding_transcript_exon_variant,,ENST00000475142,;VDAC2,downstream_gene_variant,,ENST00000470745,;	456	74	94	SUCCESS
WAPAL	0	.	GRCh37	10	88206050	88206050	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	35	241	0	ENST00000298767.5:c.3271G>A	p.Glu1091Lys	p.E1091K	ENST00000298767	NM_015045.2	1091	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7375.1	3271	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCTGTAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100	.	.	ENSP00000298767	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.24)	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,missense_variant,p.Glu1091Lys,ENST00000298767,;WAPAL,missense_variant,p.Glu303Lys,ENST00000372075,;WAPAL,missense_variant,p.Glu303Lys,ENST00000263070,;WAPAL,upstream_gene_variant,,ENST00000484070,;	3744	241	224	SUCCESS
PTEN	5728	.	GRCh37	10	89622870	89622870	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1346892443	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	5	113	0	ENST00000371953.3:c.-1357G>A		p.*453*	ENST00000371953	NM_000314.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31238.1	.	MUTECT|MUSE	.	GCACAGGTAAC	NONE	.	.	.	.	.	ENSP00000361021	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,5_prime_UTR_variant,,ENST00000371953,;KLLN,5_prime_UTR_variant,,ENST00000445946,;PTEN,upstream_gene_variant,,ENST00000487939,;PTEN,upstream_gene_variant,,ENST00000462694,;	1	113	107	SUCCESS
KIF20B	9585	.	GRCh37	10	91474892	91474892	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	20	265	1	ENST00000371728.3:c.893A>G	p.Lys298Arg	p.K298R	ENST00000371728	NM_001284259.1	298	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7407.1	893	MUTECT|MUSE|VARSCANS	.	GAGAAAGATGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR23165,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260753	.	8/33	.	.	.	.	.	.	.	.	.	8/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,missense_variant,p.Lys298Arg,ENST00000371728,;KIF20B,missense_variant,p.Lys298Arg,ENST00000416354,;KIF20B,missense_variant,p.Lys298Arg,ENST00000260753,;KIF20B,missense_variant,p.Lys298Arg,ENST00000394289,;KIF20B,downstream_gene_variant,,ENST00000447580,;	965	266	219	SUCCESS
HTR7	3363	.	GRCh37	10	92508894	92508894	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780476203	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	10	112	0	ENST00000336152.3:c.997G>A	p.Val333Ile	p.V333I	ENST00000336152	NM_019859.3	333	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS7408.1	997	MUTECT|MUSE	.	CCCGACGATGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247,PROSITE_profiles:PS50262	.	.	ENSP00000337949	.	2/4	.	.	.	.	.	.	.	.	rs780476203	2/4	PASS	ENST00000336152	Transcript	.	.	ENSG00000148680	5302	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.958)	.	deleterious(0.02)	.	5HT7R_HUMAN	HTR7	HGNC	.	.	UPI0000049B68	SNV	HTR7,missense_variant,p.Val333Ile,ENST00000371719,;HTR7,missense_variant,p.Val333Ile,ENST00000371721,;HTR7,missense_variant,p.Val333Ile,ENST00000277874,;HTR7,missense_variant,p.Val333Ile,ENST00000336152,;	1024	112	148	SUCCESS
ANKRD1	27063	.	GRCh37	10	92679010	92679011	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs776659587	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	161	0	ENST00000371697.3:c.222dup	p.Leu75ThrfsTer8	p.L75Tfs*8	ENST00000371697	NM_014391.2	74	-/A	0	T:0.0002	.	.	.	.	T	-/X	protein_coding	YES	CCDS7412.1	222-223	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTAGTTTTT	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24126,hmmpanther:PTHR24126:SF7	.	T:0.0001	ENSP00000360762	.	3/9	.	.	.	.	.	.	.	.	rs776659587	3/9	PASS	ENST00000371697	Transcript	1	.	ENSG00000148677	15819	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANKR1_HUMAN	ANKRD1	HGNC	.	.	UPI00000735C1	insertion	ANKRD1,frameshift_variant,p.Leu75ThrfsTer8,ENST00000371697,;RNU6-740P,downstream_gene_variant,,ENST00000364734,;	471-472	161	75	SUCCESS
IDE	3416	.	GRCh37	10	94225544	94225544	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	299	18	247	0	ENST00000265986.6:c.2377A>G	p.Ile793Val	p.I793V	ENST00000265986	NM_004969.3	793	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7421.1	2377	MUTECT|MUSE	.	GTATATCTCGA	NONE	.	.	Superfamily_domains:SSF63411,Pfam_domain:PF05193,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	.	.	ENSP00000265986	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.61)	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,missense_variant,p.Ile238Val,ENST00000371581,;IDE,missense_variant,p.Ile793Val,ENST00000265986,;IDE,non_coding_transcript_exon_variant,,ENST00000496903,;	2434	247	317	SUCCESS
C10orf12	0	.	GRCh37	10	98742351	98742351	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs779377877	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	34	0	ENST00000286067.2:c.1204A>G	p.Met402Val	p.M402V	ENST00000286067	NM_015652.2	402	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS7452.1	1204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAATGGGC	NONE	.	.	hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2	.	.	ENSP00000286067	.	1/1	.	.	.	.	.	.	.	.	rs779377877	1/1	PASS	ENST00000286067	Transcript	.	.	ENSG00000155640	23420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CJ012_HUMAN	C10orf12	HGNC	.	.	UPI000006F242	SNV	C10orf12,missense_variant,p.Met402Val,ENST00000286067,;LCOR,downstream_gene_variant,,ENST00000498444,;	1311	34	39	SUCCESS
AVPI1	60370	.	GRCh37	10	99437748	99437748	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	108	0	ENST00000370626.3:c.322C>G	p.Gln108Glu	p.Q108E	ENST00000370626	NM_021732.2	108	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS7470.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGTGGGT	NONE	.	.	hmmpanther:PTHR14350	.	.	ENSP00000359660	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370626	Transcript	.	.	ENSG00000119986	30898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.7)	.	AVPI1_HUMAN	AVPI1	HGNC	.	.	UPI000013CA70	SNV	AVPI1,missense_variant,p.Gln108Glu,ENST00000370626,;PI4K2A,downstream_gene_variant,,ENST00000370649,;PI4K2A,downstream_gene_variant,,ENST00000555577,;PI4K2A,downstream_gene_variant,,ENST00000370631,;	890	108	93	SUCCESS
C11orf57	0	.	GRCh37	11	111953659	111953659	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	63	0	ENST00000393047.3:c.845C>T	p.Thr282Ile	p.T282I	ENST00000393047		282	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8356.2	845	MUTECT|MUSE	.	AGCTACAGATG	NONE	.	.	.	.	.	ENSP00000376767	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393047	Transcript	.	.	ENSG00000150776	25569	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0.01)	.	CK057_HUMAN	C11orf57	HGNC	E9PQL5_HUMAN,E9PKA8_HUMAN	.	UPI00001FA363	SNV	C11orf57,missense_variant,p.Thr281Ile,ENST00000420986,;C11orf57,missense_variant,p.Thr282Ile,ENST00000393047,;C11orf57,missense_variant,p.Thr281Ile,ENST00000280352,;C11orf57,missense_variant,p.Thr253Ile,ENST00000532163,;SDHD,upstream_gene_variant,,ENST00000528182,;C11orf57,downstream_gene_variant,,ENST00000531378,;C11orf57,downstream_gene_variant,,ENST00000526879,;C11orf57,downstream_gene_variant,,ENST00000530104,;TIMM8B,downstream_gene_variant,,ENST00000504148,;SDHD,upstream_gene_variant,,ENST00000526592,;C11orf57,downstream_gene_variant,,ENST00000525785,;SDHD,upstream_gene_variant,,ENST00000375549,;SDHD,upstream_gene_variant,,ENST00000525291,;SDHD,upstream_gene_variant,,ENST00000528021,;TIMM8B,downstream_gene_variant,,ENST00000541231,;SDHD,upstream_gene_variant,,ENST00000528048,;TIMM8B,downstream_gene_variant,,ENST00000507614,;C11orf57,3_prime_UTR_variant,,ENST00000524989,;SDHD,upstream_gene_variant,,ENST00000525987,;SDHD,upstream_gene_variant,,ENST00000532699,;TIMM8B,downstream_gene_variant,,ENST00000509359,;SDHD,upstream_gene_variant,,ENST00000531744,;SDHD,upstream_gene_variant,,ENST00000530923,;	1454	63	95	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120317715	120317715	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	18	127	0	ENST00000397843.2:c.1510G>C	p.Glu504Gln	p.E504Q	ENST00000397843	NM_015313.2	504	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS41727.1	1510	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGAGCGA	NONE	.	.	Superfamily_domains:SSF48097,Pfam_domain:PF09128,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000380942	.	18/41	.	.	.	.	.	.	.	.	.	18/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,missense_variant,p.Glu401Gln,ENST00000532993,;ARHGEF12,missense_variant,p.Glu504Gln,ENST00000397843,;ARHGEF12,missense_variant,p.Glu485Gln,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000525960,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,;	1676	127	189	SUCCESS
SCN3B	55800	.	GRCh37	11	123513234	123513234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	9	69	0	ENST00000299333.3:c.365T>A	p.Val122Glu	p.V122E	ENST00000299333	NM_001040151.1	122	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8442.1	365	MUTECT|MUSE|VARSCANS	.	GGGACACATTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF1,PROSITE_profiles:PS50835	.	.	ENSP00000376523	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000392770	Transcript	.	.	ENSG00000166257	20665	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	SCN3B_HUMAN	SCN3B	HGNC	E9PQS8_HUMAN,E9PJP6_HUMAN	.	UPI00000341C8	SNV	SCN3B,missense_variant,p.Val122Glu,ENST00000299333,;SCN3B,missense_variant,p.Val122Glu,ENST00000530277,;SCN3B,missense_variant,p.Val122Glu,ENST00000392770,;SCN3B,missense_variant,p.Val122Glu,ENST00000527836,;SCN3B,downstream_gene_variant,,ENST00000528267,;SCN3B,upstream_gene_variant,,ENST00000527125,;	1168	69	110	SUCCESS
OR8D1	283159	.	GRCh37	11	124180637	124180637	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	69	0	ENST00000357821.2:c.26C>A	p.Ala9Glu	p.A9E	ENST00000357821	NM_001002917.1	9	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS31706.1	26	RADIA|MUTECT|VARSCANS	.	GAGCTGCCATA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF66	.	.	ENSP00000350474	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357821	Transcript	.	.	ENSG00000196341	8481	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	deleterious(0.01)	.	OR8D1_HUMAN	OR8D1	HGNC	.	.	UPI0000041D9D	SNV	OR8D1,missense_variant,p.Ala9Glu,ENST00000357821,;	97	69	66	SUCCESS
OR8B2	26595	.	GRCh37	11	124252995	124252995	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	12	279	0	ENST00000375013.2:c.245T>G	p.Leu82Arg	p.L82R	ENST00000375013	NM_001005468.1	82	cTa/cGa	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS31708.1	245	MUTECT|MUSE	.	TCATTAGCATT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF216,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000364152	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375013	Transcript	.	.	ENSG00000204293	8471	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.851)	.	deleterious_low_confidence(0)	.	OR8B2_HUMAN	OR8B2	HGNC	.	.	UPI000004B1E5	SNV	OR8B2,missense_variant,p.Leu82Arg,ENST00000375013,;	264	279	251	SUCCESS
OR8B8	26493	.	GRCh37	11	124310110	124310110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147220624	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	98	0	ENST00000328064.2:c.872G>A	p.Ser291Asn	p.S291N	ENST00000328064	NM_012378.1	291	aGc/aAc	0	A:0.0018	A:0.0045	.	A:0	.	T	S/N	protein_coding	YES	CCDS8446.1	872	MUTECT|MUSE|VARSCANS	.	TCAGGCTATAA	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF5,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	A:0	A:0	ENSP00000330280	A:0	1/1	.	.	.	.	.	.	.	.	rs147220624	1/1	PASS	ENST00000328064	Transcript	.	A:0.0012	ENSG00000197125	8477	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	A:0	deleterious_low_confidence(0)	.	OR8B8_HUMAN	OR8B8	HGNC	.	.	UPI00000015B1	SNV	OR8B8,missense_variant,p.Ser291Asn,ENST00000328064,;	945	98	111	SUCCESS
NLRP6	171389	.	GRCh37	11	281055	281055	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	76	0	ENST00000312165.5:c.1321G>C	p.Asp441His	p.D441H	ENST00000312165	NM_001276700.1	441	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS7693.1	1321	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGACCTG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3,PROSITE_profiles:PS50837	.	.	ENSP00000309767	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000312165	Transcript	.	.	ENSG00000174885	22944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.422)	.	deleterious(0.01)	.	NALP6_HUMAN	NLRP6	HGNC	.	.	UPI00001AEFE1	SNV	NLRP6,missense_variant,p.Asp441His,ENST00000534750,;NLRP6,missense_variant,p.Asp441His,ENST00000312165,;NLRP6,downstream_gene_variant,,ENST00000527946,;	1321	76	57	SUCCESS
SLC22A18	5002	.	GRCh37	11	2939298	2939298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	14	69	0	ENST00000312221.5:c.736G>T	p.Val246Leu	p.V246L	ENST00000312221	NM_002555.5	246	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS7740.1	736	MUTECT|VARSCANS	.	TCCTGGTGAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24002,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000369948	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000380574	Transcript	.	.	ENSG00000110628	10964	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.256)	.	deleterious(0.02)	.	S22AI_HUMAN	SLC22A18	HGNC	Q69YM4_HUMAN,E9PMN7_HUMAN	.	UPI0000070F3F	SNV	SLC22A18,missense_variant,p.Val148Leu,ENST00000449793,;SLC22A18,missense_variant,p.Val246Leu,ENST00000347936,;SLC22A18,missense_variant,p.Val246Leu,ENST00000380574,;SLC22A18,missense_variant,p.Val246Leu,ENST00000312221,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000441077,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000498209,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000449603,;SLC22A18,downstream_gene_variant,,ENST00000492567,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000467719,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000463571,;SLC22A18,upstream_gene_variant,,ENST00000495518,;	1167	70	133	SUCCESS
DCDC1	341019	.	GRCh37	11	30900222	30900222	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	11	77	0	ENST00000444572.2:c.2366C>G	p.Ala789Gly	p.A789G	ENST00000444572		789	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	.	.	5261	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGCATAA	NONE	.	.	.	.	.	ENSP00000472625	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.567)	.	tolerated(0.38)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Ala1754Gly,ENST00000597505,;DCDC1,downstream_gene_variant,,ENST00000406071,;DCDC1,missense_variant,p.Ala789Gly,ENST00000444572,;DCDC1,3_prime_UTR_variant,,ENST00000303697,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	5261	77	89	SUCCESS
DCDC1	341019	.	GRCh37	11	30937205	30937205	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	16	217	0	ENST00000339794.5:c.743A>G	p.Tyr248Cys	p.Y248C	ENST00000339794		248	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	.	.	3506	MUTECT|MUSE	.	CTCTGTATTCG	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958,Pfam_domain:PF00652,Gene3D:2.80.10.50,Superfamily_domains:SSF50370	.	.	ENSP00000472625	.	25/36	.	.	.	.	.	.	.	.	.	25/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Tyr1169Cys,ENST00000597505,;DCDC1,missense_variant,p.Tyr248Cys,ENST00000339794,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,missense_variant,p.Tyr204Cys,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	3506	217	200	SUCCESS
CAT	847	.	GRCh37	11	34492538	34492538	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761905754	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	56	130	0	ENST00000241052.4:c.1468G>A	p.Gly490Arg	p.G490R	ENST00000241052	NM_001752.3	490	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS7891.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACGGGAGC	NONE	.	.	Superfamily_domains:SSF56634,PIRSF_domain:PIRSF038928,Pfam_domain:PF06628,hmmpanther:PTHR11465,PROSITE_profiles:PS51402	.	.	ENSP00000241052	.	12/13	.	.	.	.	.	.	.	.	rs761905754	12/13	PASS	ENST00000241052	Transcript	.	.	ENSG00000121691	1516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CATA_HUMAN	CAT	HGNC	Q8TAK2_HUMAN	.	UPI000002F090	SNV	CAT,missense_variant,p.Gly490Arg,ENST00000241052,;CAT,non_coding_transcript_exon_variant,,ENST00000534710,;CAT,downstream_gene_variant,,ENST00000525707,;	1557	130	116	SUCCESS
TRAF6	7189	.	GRCh37	11	36516546	36516546	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	337	32	367	0	ENST00000348124.5:c.658A>G	p.Thr220Ala	p.T220A	ENST00000348124	NM_145803.2	220	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7901.1	658	MUTECT|MUSE|VARSCANS	.	TATAGTATTGC	NONE	.	.	PROSITE_profiles:PS50145,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF52,Pfam_domain:PF02176,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF49599	.	.	ENSP00000433623	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000526995	Transcript	.	.	ENSG00000175104	12036	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	tolerated(0.47)	.	TRAF6_HUMAN	TRAF6	HGNC	.	.	UPI000000D924	SNV	TRAF6,missense_variant,p.Thr220Ala,ENST00000348124,;TRAF6,missense_variant,p.Thr220Ala,ENST00000526995,;TRAF6,non_coding_transcript_exon_variant,,ENST00000529150,;	905	368	369	SUCCESS
PRDM11	56981	.	GRCh37	11	45246096	45246096	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	49	0	ENST00000530656.1:c.1173C>T	p.Gly391=	p.G391=	ENST00000530656		391	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS58130.1	1071	MUTECT|MUSE|VARSCANS	.	ATAGGCCAGAC	NONE	.	.	hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF3	.	.	ENSP00000394314	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000424263	Transcript	.	.	ENSG00000019485	13996	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRD11_HUMAN	PRDM11	HGNC	E9PJ09_HUMAN	.	UPI000013FA3F	SNV	PRDM11,synonymous_variant,p.%3D,ENST00000530656,;PRDM11,synonymous_variant,p.%3D,ENST00000263765,;PRDM11,synonymous_variant,p.%3D,ENST00000424263,;CTD-2560E9.3,intron_variant,,ENST00000527450,;PRDM11,intron_variant,,ENST00000528980,;	1316	49	54	SUCCESS
LRP4	4038	.	GRCh37	11	46911915	46911915	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150253578	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	46	0	ENST00000378623.1:c.1828C>T	p.Arg610Cys	p.R610C	ENST00000378623	NM_002334.3	610	Cgc/Tgc	0	A:0.0118	A:0.0121	.	A:0.0029	.	A	R/C	protein_coding	YES	CCDS31478.1	1828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGCCCGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	A:0	A:0.0001	ENSP00000367888	A:0	14/38	.	.	.	.	.	.	.	.	rs150253578	14/38	common_in_exac	ENST00000378623	Transcript	.	A:0.0036	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	A:0	tolerated(0.06)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Arg610Cys,ENST00000378623,;LRP4,upstream_gene_variant,,ENST00000529921,;	2071	46	67	SUCCESS
OR4C46	119749	.	GRCh37	11	51516034	51516034	+	synonymous_variant	Silent	SNP	C	C	T	rs753800053	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	51	266	0	ENST00000328188.1:c.753C>T	p.Pro251=	p.P251=	ENST00000328188	NM_001004703.1	251	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31498.1	753	RADIA|MUTECT|MUSE	.	GTGCCCTGCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF284,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000329056	.	1/1	.	.	.	.	.	.	.	.	rs753800053	1/1	PASS	ENST00000328188	Transcript	.	.	ENSG00000185926	31271	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O4C46_HUMAN	OR4C46	HGNC	.	.	UPI000013F6F8	SNV	OR4C46,synonymous_variant,p.%3D,ENST00000328188,;	753	266	180	SUCCESS
OR4C16	219428	.	GRCh37	11	55339975	55339975	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	44	154	0	ENST00000314634.3:c.372C>A	p.Ile124=	p.I124=	ENST00000314634	NM_001004701.2	124	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31502.1	372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCTGTAA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF223,PROSITE_profiles:PS50262	.	.	ENSP00000324913	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314634	Transcript	.	.	ENSG00000181935	15172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4CG_HUMAN	OR4C16	HGNC	.	.	UPI000013F8A8	SNV	OR4C16,synonymous_variant,p.%3D,ENST00000314634,;	372	154	102	SUCCESS
OR5AS1	219447	.	GRCh37	11	55798784	55798784	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	39	0	ENST00000313555.1:c.890T>A	p.Val297Glu	p.V297E	ENST00000313555	NM_001001921.1	297	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS31516.1	890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTGAAAA	BUFFER|p.V297V|c.891G>A|4	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF153	.	.	ENSP00000324111	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313555	Transcript	.	.	ENSG00000181785	15261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	O5AS1_HUMAN	OR5AS1	HGNC	.	.	UPI000004B1FB	SNV	OR5AS1,missense_variant,p.Val297Glu,ENST00000313555,;	890	39	37	SUCCESS
BTBD18	643376	.	GRCh37	11	57512438	57512438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	22	134	0	ENST00000422652.1:c.1307C>A	p.Ser436Tyr	p.S436Y	ENST00000422652	NM_001145101.1	436	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS44603.1	1307	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGAGTGG	NONE	.	.	.	.	.	ENSP00000394472	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422652	Transcript	.	.	ENSG00000233436	37214	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	BTBDI_HUMAN	BTBD18	HGNC	E9PRF5_HUMAN	.	UPI00006C113A	SNV	BTBD18,missense_variant,p.Ser436Tyr,ENST00000436147,;BTBD18,missense_variant,p.Ser436Tyr,ENST00000422652,;C11orf31,downstream_gene_variant,,ENST00000534355,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;C11orf31,downstream_gene_variant,,ENST00000528798,;C11orf31,downstream_gene_variant,,ENST00000388857,;TMX2,downstream_gene_variant,,ENST00000278422,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,intron_variant,,ENST00000531074,;C11orf31,downstream_gene_variant,,ENST00000533321,;C11orf31,downstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000528110,;TMX2,downstream_gene_variant,,ENST00000530114,;TMX2,downstream_gene_variant,,ENST00000529403,;	1596	134	180	SUCCESS
MS4A4A	51338	.	GRCh37	11	60064785	60064785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	32	128	0	ENST00000337908.4:c.317G>T	p.Trp106Leu	p.W106L	ENST00000337908	NM_148975.2	106	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS7982.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTGGGGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF35,Pfam_domain:PF04103	.	.	ENSP00000338648	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000337908	Transcript	.	.	ENSG00000110079	13371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.741)	.	deleterious(0)	.	M4A4A_HUMAN	MS4A4A	HGNC	.	.	UPI0000055AE7	SNV	MS4A4A,missense_variant,p.Trp106Leu,ENST00000532114,;MS4A4A,missense_variant,p.Trp87Leu,ENST00000395016,;MS4A4A,missense_variant,p.Trp87Leu,ENST00000355131,;MS4A4A,missense_variant,p.Trp106Leu,ENST00000337908,;MS4A4A,3_prime_UTR_variant,,ENST00000343968,;MS4A4A,3_prime_UTR_variant,,ENST00000529950,;MS4A4A,3_prime_UTR_variant,,ENST00000527056,;	407	128	88	SUCCESS
HNRNPUL2	221092	.	GRCh37	11	62491884	62491884	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	38	222	0	ENST00000301785.5:c.553A>C	p.Ser185Arg	p.S185R	ENST00000301785	NM_001079559.2	185	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS41659.1	553	RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTATCCT	NONE	.	.	hmmpanther:PTHR12381:SF43,hmmpanther:PTHR12381	.	.	ENSP00000301785	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000301785	Transcript	.	.	ENSG00000214753	25451	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	tolerated(0.52)	.	HNRL2_HUMAN	HNRNPUL2	HGNC	.	.	UPI0000161949	SNV	HNRNPUL2,missense_variant,p.Ser185Arg,ENST00000301785,;TTC9C,upstream_gene_variant,,ENST00000530625,;TTC9C,upstream_gene_variant,,ENST00000513247,;TTC9C,upstream_gene_variant,,ENST00000316461,;TTC9C,upstream_gene_variant,,ENST00000532583,;HNRNPUL2-BSCL2,missense_variant,p.Ser185Arg,ENST00000403734,;TTC9C,upstream_gene_variant,,ENST00000294161,;HNRNPUL2,upstream_gene_variant,,ENST00000540127,;	746	222	218	SUCCESS
NXF1	10482	.	GRCh37	11	62566040	62566040	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	63	0	ENST00000294172.2:c.1024C>G	p.Arg342Gly	p.R342G	ENST00000294172	NM_006362.4	342	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS8037.1	1024	RADIA|MUTECT|VARSCANS	.	TTCGCGAATGG	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR10662:SF27,hmmpanther:PTHR10662	.	.	ENSP00000436679	.	12/22	.	.	.	.	.	.	.	.	COSM3451087	12/22	PASS	ENST00000532297	Transcript	.	.	ENSG00000162231	8071	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.459)	.	deleterious(0.04)	1	NXF1_HUMAN	NXF1	HGNC	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN	.	UPI00000012B9	SNV	NXF1,missense_variant,p.Arg342Gly,ENST00000532297,;NXF1,missense_variant,p.Arg385Gly,ENST00000530875,;NXF1,missense_variant,p.Arg342Gly,ENST00000294172,;NXF1,3_prime_UTR_variant,,ENST00000531709,;NXF1,downstream_gene_variant,,ENST00000531474,;NXF1,downstream_gene_variant,,ENST00000533671,;NXF1,upstream_gene_variant,,ENST00000527902,;NXF1,downstream_gene_variant,,ENST00000439713,;NXF1,downstream_gene_variant,,ENST00000531131,;NXF1,intron_variant,,ENST00000531579,;NXF1,upstream_gene_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000526163,;NXF1,non_coding_transcript_exon_variant,,ENST00000531872,;NXF1,upstream_gene_variant,,ENST00000533440,;NXF1,downstream_gene_variant,,ENST00000525576,;NXF1,downstream_gene_variant,,ENST00000527064,;NXF1,upstream_gene_variant,,ENST00000533499,;NXF1,upstream_gene_variant,,ENST00000527497,;	1654	63	121	SUCCESS
ATL3	25923	.	GRCh37	11	63396832	63396832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	32	202	0	ENST00000398868.3:c.1585G>T	p.Ala529Ser	p.A529S	ENST00000398868	NM_015459.3	529	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41663.1	1585	RADIA|MUTECT|MUSE|VARSCANS	.	AACTGCATCCC	NONE	.	.	hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32	.	.	ENSP00000381844	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000398868	Transcript	.	.	ENSG00000184743	24526	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.82)	.	ATLA3_HUMAN	ATL3	HGNC	F5H6I7_HUMAN	.	UPI0000071A21	SNV	ATL3,missense_variant,p.Ala511Ser,ENST00000538786,;ATL3,missense_variant,p.Ala529Ser,ENST00000398868,;ATL3,missense_variant,p.Ala556Ser,ENST00000332645,;RP11-697H9.4,upstream_gene_variant,,ENST00000605170,;	1862	202	231	SUCCESS
ESRRA	2101	.	GRCh37	11	64082291	64082291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	61	0	ENST00000000442.6:c.650G>T	p.Gly217Val	p.G217V	ENST00000000442		217	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41667.1	650	RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCCCTG	NONE	.	.	hmmpanther:PTHR24084,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Superfamily_domains:SSF48508	.	.	ENSP00000384851	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000405666	Transcript	.	.	ENSG00000173153	3471	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	ERR1_HUMAN	ESRRA	HGNC	Q96I02_HUMAN,Q96F89_HUMAN,Q569H8_HUMAN,F5H0E9_HUMAN,F5GWT5_HUMAN	.	UPI0000167B87	SNV	ESRRA,missense_variant,p.Gly217Val,ENST00000405666,;ESRRA,missense_variant,p.Gly217Val,ENST00000000442,;ESRRA,missense_variant,p.Gly216Val,ENST00000406310,;ESRRA,missense_variant,p.Gly74Val,ENST00000539594,;ESRRA,intron_variant,,ENST00000545035,;TRMT112,downstream_gene_variant,,ENST00000544844,;PRDX5,upstream_gene_variant,,ENST00000265462,;TRMT112,downstream_gene_variant,,ENST00000535750,;TRMT112,downstream_gene_variant,,ENST00000308774,;PRDX5,upstream_gene_variant,,ENST00000352435,;PRDX5,upstream_gene_variant,,ENST00000347941,;TRMT112,downstream_gene_variant,,ENST00000539854,;TRMT112,downstream_gene_variant,,ENST00000535126,;ESRRA,intron_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,;	884	61	65	SUCCESS
MAP4K2	5871	.	GRCh37	11	64564456	64564456	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	80	0	ENST00000294066.2:c.1405C>A	p.His469Asn	p.H469N	ENST00000294066	NM_004579.3	469	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS8082.1	1405	RADIA|MUTECT|VARSCANS	.	TACATGCACCT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,PIRSF_domain:PIRSF038172	.	.	ENSP00000294066	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.075)	.	tolerated(0.09)	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,missense_variant,p.His461Asn,ENST00000377350,;MAP4K2,missense_variant,p.His469Asn,ENST00000294066,;MAP4K2,downstream_gene_variant,,ENST00000439069,;MAP4K2,downstream_gene_variant,,ENST00000493428,;MAP4K2,downstream_gene_variant,,ENST00000468062,;MAP4K2,downstream_gene_variant,,ENST00000482314,;MAP4K2,splice_region_variant,,ENST00000489952,;MAP4K2,splice_region_variant,,ENST00000435926,;MAP4K2,splice_region_variant,,ENST00000470088,;MAP4K2,splice_region_variant,,ENST00000433890,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000467689,;MAP4K2,upstream_gene_variant,,ENST00000424945,;MAP4K2,downstream_gene_variant,,ENST00000444560,;	1497	80	71	SUCCESS
VPS51	738	.	GRCh37	11	64878964	64878964	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	19	102	0	ENST00000279281.3:c.2254C>G	p.Leu752Val	p.L752V	ENST00000279281	NM_013265.3	752	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS8093.1	2254	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15954:SF4,hmmpanther:PTHR15954	.	.	ENSP00000279281	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279281	Transcript	.	.	ENSG00000149823	1172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	VPS51_HUMAN	VPS51	HGNC	E9PMB6_HUMAN,E9PJ36_HUMAN	.	UPI000006D6D8	SNV	VPS51,missense_variant,p.Leu752Val,ENST00000279281,;VPS51,3_prime_UTR_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000530750,;TM7SF2,upstream_gene_variant,,ENST00000279263,;ZNHIT2,downstream_gene_variant,,ENST00000310597,;TM7SF2,upstream_gene_variant,,ENST00000526085,;TM7SF2,upstream_gene_variant,,ENST00000524986,;TM7SF2,upstream_gene_variant,,ENST00000527968,;TM7SF2,upstream_gene_variant,,ENST00000345348,;TM7SF2,upstream_gene_variant,,ENST00000531321,;TM7SF2,upstream_gene_variant,,ENST00000528802,;TM7SF2,upstream_gene_variant,,ENST00000534371,;VPS51,downstream_gene_variant,,ENST00000530773,;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000526578,;TM7SF2,upstream_gene_variant,,ENST00000525385,;TM7SF2,upstream_gene_variant,,ENST00000529414,;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000528588,;TM7SF2,upstream_gene_variant,,ENST00000526809,;TM7SF2,upstream_gene_variant,,ENST00000540748,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.9,non_coding_transcript_exon_variant,,ENST00000528887,;VPS51,non_coding_transcript_exon_variant,,ENST00000527646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;TM7SF2,upstream_gene_variant,,ENST00000533646,;VPS51,3_prime_UTR_variant,,ENST00000533827,;VPS51,non_coding_transcript_exon_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000529601,;TM7SF2,upstream_gene_variant,,ENST00000533766,;TM7SF2,upstream_gene_variant,,ENST00000528026,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000532328,;TM7SF2,upstream_gene_variant,,ENST00000529292,;TM7SF2,upstream_gene_variant,,ENST00000526048,;TM7SF2,upstream_gene_variant,,ENST00000527851,;VPS51,downstream_gene_variant,,ENST00000534124,;TM7SF2,upstream_gene_variant,,ENST00000524690,;VPS51,downstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000530650,;TM7SF2,upstream_gene_variant,,ENST00000530892,;VPS51,downstream_gene_variant,,ENST00000533656,;VPS51,downstream_gene_variant,,ENST00000533487,;TM7SF2,upstream_gene_variant,,ENST00000534667,;	2346	102	178	SUCCESS
LTBP3	4054	.	GRCh37	11	65320914	65320914	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	16	83	0	ENST00000301873.5:c.952A>C	p.Lys318Gln	p.K318Q	ENST00000301873	NM_001130144.2	318	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS44647.1	952	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTGTGGC	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35,Pfam_domain:PF00683,Gene3D:3.90.290.10,Superfamily_domains:SSF57581	.	.	ENSP00000301873	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000301873	Transcript	.	.	ENSG00000168056	6716	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.24)	.	LTBP3_HUMAN	LTBP3	HGNC	Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN	.	UPI00003667EB	SNV	LTBP3,missense_variant,p.Lys318Gln,ENST00000301873,;LTBP3,missense_variant,p.Lys229Gln,ENST00000530866,;LTBP3,missense_variant,p.Lys39Gln,ENST00000530426,;LTBP3,missense_variant,p.Lys318Gln,ENST00000322147,;LTBP3,intron_variant,,ENST00000526927,;LTBP3,intron_variant,,ENST00000536982,;LTBP3,upstream_gene_variant,,ENST00000532932,;LTBP3,3_prime_UTR_variant,,ENST00000526825,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,intron_variant,,ENST00000524798,;LTBP3,upstream_gene_variant,,ENST00000527792,;LTBP3,upstream_gene_variant,,ENST00000529764,;LTBP3,upstream_gene_variant,,ENST00000528966,;	1221	83	138	SUCCESS
SF3B2	10992	.	GRCh37	11	65819899	65819900	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC	rs146381373	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	118	16	58	0	ENST00000322535.6:c.54_56dup	p.Pro21dup	p.P21dup	ENST00000322535	NM_006842.2	21	ctg/ctGCCg	0	GCC:0.0005	GCC:0	.	GCC:0.0014	.	GCC	L/LP	protein_coding	YES	CCDS31612.1	44-45	INDELOCATOR|VARSCANI	.	GCAGCTGCCGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	GCC:0.0774	GCC:0.0007	ENSP00000318861	GCC:0	1/22	.	.	.	.	.	.	.	.	rs146381373,COSM327347	1/22	common_in_exac	ENST00000322535	Transcript	.	GCC:0.0266	ENSG00000087365	10769	12	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	GCC:0.0552	.	0,1	SF3B2_HUMAN	SF3B2	HGNC	E9PIL8_HUMAN	.	UPI00001C1F20	insertion	SF3B2,inframe_insertion,p.Pro21dup,ENST00000528302,;SF3B2,inframe_insertion,p.Pro16dup,ENST00000530322,;SF3B2,inframe_insertion,p.Pro21dup,ENST00000322535,;SF3B2,inframe_insertion,p.Pro21dup,ENST00000524627,;SF3B2,inframe_insertion,p.Pro21dup,ENST00000533595,;SF3B2,upstream_gene_variant,,ENST00000524475,;GAL3ST3,upstream_gene_variant,,ENST00000312006,;snoU13,upstream_gene_variant,,ENST00000459530,;SF3B2,downstream_gene_variant,,ENST00000534307,;SF3B2,upstream_gene_variant,,ENST00000533421,;SF3B2,downstream_gene_variant,,ENST00000529577,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531041,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531589,;GAL3ST3,upstream_gene_variant,,ENST00000527048,;SF3B2,upstream_gene_variant,,ENST00000525207,;SF3B2,upstream_gene_variant,,ENST00000526653,;	93-94	58	134	SUCCESS
DPP3	10072	.	GRCh37	11	66249912	66249912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	30	0	ENST00000541961.1:c.241G>T	p.Ala81Ser	p.A81S	ENST00000541961		81	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8141.1	241	MUTECT|MUSE	.	CCCTGGCTGAA	NONE	.	.	hmmpanther:PTHR23422,hmmpanther:PTHR23422:SF10,PIRSF_domain:PIRSF007828	.	.	ENSP00000353701	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000360510	Transcript	.	.	ENSG00000254986	3008	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.73)	.	DPP3_HUMAN	DPP3	HGNC	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN	.	UPI000012983B	SNV	DPP3,missense_variant,p.Ala81Ser,ENST00000360510,;DPP3,missense_variant,p.Ala81Ser,ENST00000530165,;DPP3,missense_variant,p.Ala100Ser,ENST00000532677,;DPP3,missense_variant,p.Ala81Ser,ENST00000526515,;DPP3,missense_variant,p.Ala81Ser,ENST00000531354,;DPP3,missense_variant,p.Ala81Ser,ENST00000453114,;DPP3,missense_variant,p.Ala81Ser,ENST00000541961,;DPP3,missense_variant,p.Ala101Ser,ENST00000531863,;DPP3,missense_variant,p.Ala81Ser,ENST00000531314,;DPP3,5_prime_UTR_variant,,ENST00000532019,;DPP3,intron_variant,,ENST00000533725,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527092,;CTD-3074O7.5,upstream_gene_variant,,ENST00000533502,;CTD-3074O7.5,upstream_gene_variant,,ENST00000525142,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527274,;DPP3,non_coding_transcript_exon_variant,,ENST00000544603,;DPP3,non_coding_transcript_exon_variant,,ENST00000531272,;	306	30	38	SUCCESS
DCHS1	8642	.	GRCh37	11	6643329	6643329	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1465045788	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	80	0	ENST00000299441.3:c.9578G>T	p.Cys3193Phe	p.C3193F	ENST00000299441	NM_003737.2	3193	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS7771.1	9578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACATGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	tolerated(0.75)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Cys3193Phe,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,intron_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	9990	80	87	SUCCESS
SUV420H1	0	.	GRCh37	11	67957441	67957441	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	18	344	0	ENST00000304363.4:c.103A>T	p.Thr35Ser	p.T35S	ENST00000304363	NM_017635.3	35	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS31623.1	103	MUTECT|MUSE	.	CCCCGTGTGCT	NONE	.	.	PROSITE_profiles:PS51570,hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10	.	.	ENSP00000305899	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000304363	Transcript	.	.	ENSG00000110066	24283	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.99)	.	SV421_HUMAN	SUV420H1	HGNC	E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN	.	UPI00001FADE7	SNV	SUV420H1,missense_variant,p.Thr35Ser,ENST00000434573,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000402789,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000405515,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000304363,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000402185,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000401547,;SUV420H1,intron_variant,,ENST00000458496,;SUV420H1,intron_variant,,ENST00000453170,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000427752,;SUV420H1,missense_variant,p.Thr35Ser,ENST00000441488,;SUV420H1,non_coding_transcript_exon_variant,,ENST00000466295,;	457	344	289	SUCCESS
NUMA1	4926	.	GRCh37	11	71721833	71721833	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	34	0	ENST00000393695.3:c.4718A>C	p.Lys1573Thr	p.K1573T	ENST00000393695	NM_006185.2	1573	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS31633.1	4718	RADIA|MUTECT|VARSCANS	.	CCACCTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	.	.	ENSP00000377298	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000393695	Transcript	.	.	ENSG00000137497	8059	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.894)	.	.	.	NUMA1_HUMAN	NUMA1	HGNC	Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN	.	UPI000013DB8B	SNV	NUMA1,missense_variant,p.Lys1573Thr,ENST00000393695,;NUMA1,missense_variant,p.Lys1559Thr,ENST00000358965,;NUMA1,missense_variant,p.Lys404Thr,ENST00000541584,;NUMA1,missense_variant,p.Lys437Thr,ENST00000351960,;NUMA1,downstream_gene_variant,,ENST00000537217,;NUMA1,downstream_gene_variant,,ENST00000542977,;RP11-849H4.4,upstream_gene_variant,,ENST00000502284,;NUMA1,upstream_gene_variant,,ENST00000541262,;NUMA1,missense_variant,p.Lys163Thr,ENST00000545721,;NUMA1,upstream_gene_variant,,ENST00000546036,;NUMA1,downstream_gene_variant,,ENST00000540588,;NUMA1,upstream_gene_variant,,ENST00000540626,;	5050	34	47	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73022229	73022229	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs934073278	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	11	83	0	ENST00000263674.3:c.2546C>T	p.Pro849Leu	p.P849L	ENST00000263674	NM_014786.3	849	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS8221.1	2546	MUTECT|MUSE	.	GGAGCCCATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.63)	.	deleterious_low_confidence(0)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Pro849Leu,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,;	2896	83	178	SUCCESS
PLEKHB1	58473	.	GRCh37	11	73372585	73372585	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	18	0	ENST00000354190.5:c.670C>T	p.Leu224Phe	p.L224F	ENST00000354190	NM_021200.2	224	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44672.1	670	RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCTTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14309:SF7,hmmpanther:PTHR14309	.	.	ENSP00000346127	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000354190	Transcript	.	.	ENSG00000021300	19079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PKHB1_HUMAN	PLEKHB1	HGNC	F5H190_HUMAN,F5GY87_HUMAN	.	UPI000006F426	SNV	PLEKHB1,missense_variant,p.Leu189Phe,ENST00000398492,;PLEKHB1,missense_variant,p.Leu224Phe,ENST00000354190,;PLEKHB1,missense_variant,p.Leu170Phe,ENST00000535129,;PLEKHB1,missense_variant,p.Leu177Phe,ENST00000540431,;PLEKHB1,missense_variant,p.Leu205Phe,ENST00000398494,;PLEKHB1,missense_variant,p.Leu119Phe,ENST00000543085,;PLEKHB1,missense_variant,p.Leu170Phe,ENST00000227214,;PLEKHB1,downstream_gene_variant,,ENST00000535582,;PLEKHB1,downstream_gene_variant,,ENST00000539157,;PLEKHB1,downstream_gene_variant,,ENST00000538227,;PLEKHB1,downstream_gene_variant,,ENST00000546251,;PLEKHB1,downstream_gene_variant,,ENST00000543524,;PLEKHB1,downstream_gene_variant,,ENST00000542389,;PLEKHB1,downstream_gene_variant,,ENST00000541597,;Y_RNA,downstream_gene_variant,,ENST00000516923,;PLEKHB1,upstream_gene_variant,,ENST00000544282,;PLEKHB1,non_coding_transcript_exon_variant,,ENST00000426191,;PLEKHB1,non_coding_transcript_exon_variant,,ENST00000545106,;PLEKHB1,downstream_gene_variant,,ENST00000540157,;	1101	19	61	SUCCESS
RPS3	6188	.	GRCh37	11	75110602	75110602	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772964979	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	8	74	0	ENST00000524851.1:c.11A>G	p.Gln4Arg	p.Q4R	ENST00000524851		4	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS58161.1	11	MUTECT|MUSE	.	AGTGCAAATAT	NONE	byFrequency	.	hmmpanther:PTHR11760,hmmpanther:PTHR11760:SF17	.	.	ENSP00000278572	.	1/7	.	.	.	.	.	.	.	.	rs772964979	1/7	PASS	ENST00000278572	Transcript	.	.	ENSG00000149273	10420	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.43)	.	tolerated(0.11)	.	RS3_HUMAN	RPS3	HGNC	Q9NQS8_HUMAN,E9PSF4_HUMAN,E9PJN9_HUMAN	.	UPI0001EE4B77	SNV	RPS3,missense_variant,p.Gln4Arg,ENST00000530164,;RPS3,missense_variant,p.Gln4Arg,ENST00000278572,;RPS3,missense_variant,p.Gln4Arg,ENST00000531188,;RPS3,missense_variant,p.Gln4Arg,ENST00000526608,;RPS3,missense_variant,p.Gln4Arg,ENST00000527273,;RPS3,missense_variant,p.Gln4Arg,ENST00000534440,;RPS3,missense_variant,p.Gln4Arg,ENST00000524851,;RPS3,missense_variant,p.Gln4Arg,ENST00000527446,;RPS3,5_prime_UTR_variant,,ENST00000422465,;RPS3,upstream_gene_variant,,ENST00000525933,;RPS3,upstream_gene_variant,,ENST00000528847,;SNORD15B,upstream_gene_variant,,ENST00000384714,;SNORD15A,upstream_gene_variant,,ENST00000384214,;RPS3,upstream_gene_variant,,ENST00000534555,;RPS3,upstream_gene_variant,,ENST00000529285,;RPS3,start_lost,p.Gln1?,ENST00000526248,;RPS3,missense_variant,p.Gln4Arg,ENST00000532872,;RPS3,missense_variant,p.Gln4Arg,ENST00000530721,;RPS3,missense_variant,p.Gln4Arg,ENST00000528439,;RPS3,non_coding_transcript_exon_variant,,ENST00000529173,;RPS3,upstream_gene_variant,,ENST00000525690,;RPS3,upstream_gene_variant,,ENST00000530170,;	29	74	130	SUCCESS
MYO7A	4647	.	GRCh37	11	76858899	76858899	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	13	34	0	ENST00000409709.3:c.188C>G	p.Ser63Trp	p.S63W	ENST00000409709	NM_000260.3	63	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS53683.1	188	RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCGGTCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386331	.	4/49	.	.	.	.	.	.	.	.	.	4/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Ser63Trp,ENST00000409893,;MYO7A,missense_variant,p.Ser52Trp,ENST00000409619,;MYO7A,missense_variant,p.Ser63Trp,ENST00000409709,;MYO7A,missense_variant,p.Ser63Trp,ENST00000458637,;	460	34	108	SUCCESS
GDPD4	220032	.	GRCh37	11	76969478	76969478	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	20	195	0	ENST00000376217.2:c.817G>A	p.Asp273Asn	p.D273N	ENST00000376217		273	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS8249.1	817	MUTECT|MUSE|VARSCANS	.	GAAATCCCAGT	NONE	.	.	PROSITE_profiles:PS51704,hmmpanther:PTHR23344:SF13,hmmpanther:PTHR23344,Pfam_domain:PF03009,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000320815	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000315938	Transcript	.	.	ENSG00000178795	24849	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.26)	.	GDPD4_HUMAN	GDPD4	HGNC	.	.	UPI00001B3DB6	SNV	GDPD4,missense_variant,p.Asp273Asn,ENST00000376217,;GDPD4,missense_variant,p.Asp273Asn,ENST00000315938,;	1068	195	243	SUCCESS
OR10A3	26496	.	GRCh37	11	7960259	7960259	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758667752	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	308	29	271	0	ENST00000360759.3:c.809C>G	p.Thr270Ser	p.T270S	ENST00000360759	NM_001003745.1	270	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS31421.1	809	MUTECT|MUSE	.	TCTTGGTTTCG	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000353988	.	1/1	.	.	.	.	.	.	.	.	rs758667752	1/1	PASS	ENST00000360759	Transcript	.	.	ENSG00000170683	8162	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.047)	.	tolerated(0.58)	.	O10A3_HUMAN	OR10A3	HGNC	.	.	UPI00000015AD	SNV	OR10A3,missense_variant,p.Thr270Ser,ENST00000360759,;	883	271	337	SUCCESS
TRIM66	9866	.	GRCh37	11	8662439	8662439	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	74	0	ENST00000299550.6:c.1048C>A	p.Pro350Thr	p.P350T	ENST00000299550	NM_014818.1	350	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	.	1042	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCTGCC	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121	.	.	ENSP00000384876	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.09)	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Pro348Thr,ENST00000402157,;TRIM66,missense_variant,p.Pro350Thr,ENST00000299550,;TRIM66,downstream_gene_variant,,ENST00000529057,;TRIM66,downstream_gene_variant,,ENST00000531498,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	1483	74	101	SUCCESS
DENND5A	23258	.	GRCh37	11	9202573	9202573	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	14	147	0	ENST00000328194.3:c.1196C>A	p.Pro399Gln	p.P399Q	ENST00000328194	NM_015213.3	399	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS31423.1	1196	MUTECT|MUSE|VARSCANS	.	ACTGTGGCAAG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45	.	.	ENSP00000328524	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000328194	Transcript	.	.	ENSG00000184014	19344	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEN5A_HUMAN	DENND5A	HGNC	B3KWN5_HUMAN	.	UPI00001C1F29	SNV	DENND5A,missense_variant,p.Pro399Gln,ENST00000328194,;DENND5A,missense_variant,p.Pro399Gln,ENST00000530044,;DENND5A,upstream_gene_variant,,ENST00000526523,;DENND5A,missense_variant,p.Pro375Gln,ENST00000526707,;DENND5A,upstream_gene_variant,,ENST00000530867,;DENND5A,upstream_gene_variant,,ENST00000527896,;	1517	147	184	SUCCESS
FAT3	120114	.	GRCh37	11	92085781	92085781	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763035808	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	7	92	0	ENST00000298047.6:c.503C>T	p.Ala168Val	p.A168V	ENST00000298047		168	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	.	503	MUTECT|MUSE	.	CATAGCAGAAA	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	1/27	.	.	.	.	.	.	.	.	rs763035808	1/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.792)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ala168Val,ENST00000541502,;FAT3,missense_variant,p.Ala168Val,ENST00000298047,;FAT3,missense_variant,p.Ala168Val,ENST00000409404,;FAT3,missense_variant,p.Ala18Val,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	520	92	91	SUCCESS
CEP57	9702	.	GRCh37	11	95555181	95555181	+	intron_variant	Intron	DEL	C	C	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	127	0	ENST00000325542.5:c.807+39del		p.*269*	ENST00000325542	NM_001243776.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8304.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGATTACTTGGT	NONE	.	.	.	.	.	ENSP00000317902	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325542	Transcript	.	.	ENSG00000166037	30794	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CEP57_HUMAN	CEP57	HGNC	F5H1B0_HUMAN,F5GYW0_HUMAN	.	UPI0000070D0B	deletion	CEP57,3_prime_UTR_variant,,ENST00000538658,;CEP57,intron_variant,,ENST00000537093,;CEP57,intron_variant,,ENST00000541150,;CEP57,intron_variant,,ENST00000535224,;CEP57,intron_variant,,ENST00000325486,;CEP57,intron_variant,,ENST00000325542,;CEP57,intron_variant,,ENST00000537677,;CEP57,downstream_gene_variant,,ENST00000544522,;CEP57,downstream_gene_variant,,ENST00000541365,;CEP57,intron_variant,,ENST00000540830,;CEP57,intron_variant,,ENST00000539855,;CEP57,upstream_gene_variant,,ENST00000538158,;CEP57,downstream_gene_variant,,ENST00000541768,;AP001877.1,downstream_gene_variant,,ENST00000542426,;	.	127	120	SUCCESS
ALDH1L2	160428	.	GRCh37	12	105431912	105431919	+	frameshift_variant	Frame_Shift_Del	DEL	TTAAATAT	TTAAATAT	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	TTAAATAT	TTAAATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	101	0	ENST00000258494.9:c.2107_2114del	p.Ile703Ter	p.I703*	ENST00000258494	NM_001034173.3	703	ATATTTAAt/t	0	.	.	.	.	.	-	IFN/X	protein_coding	YES	CCDS31891.1	2107-2114	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTCATTAAATATTATAA	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF131,Pfam_domain:PF00171,Gene3D:3.40.605.10,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53720	.	.	ENSP00000258494	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000258494	Transcript	.	.	ENSG00000136010	26777	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AL1L2_HUMAN	ALDH1L2	HGNC	.	.	UPI00000477A9	deletion	ALDH1L2,frameshift_variant,p.Ile703Ter,ENST00000258494,;C12orf45,intron_variant,,ENST00000548583,;ALDH1L2,3_prime_UTR_variant,,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000549335,;	2248-2255	101	100	SUCCESS
ALDH1L2	160428	.	GRCh37	12	105464456	105464456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	15	166	0	ENST00000258494.9:c.320T>C	p.Phe107Ser	p.F107S	ENST00000258494	NM_001034173.3	107	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS31891.1	320	MUTECT|VARSCANS	.	TGCAGAAAGGG	NONE	.	.	Gene3D:3.40.50.170,Pfam_domain:PF00551,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53328	.	.	ENSP00000258494	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000258494	Transcript	.	.	ENSG00000136010	26777	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.85)	.	deleterious_low_confidence(0.02)	.	AL1L2_HUMAN	ALDH1L2	HGNC	.	.	UPI00000477A9	SNV	ALDH1L2,missense_variant,p.Phe107Ser,ENST00000424857,;ALDH1L2,missense_variant,p.Phe107Ser,ENST00000258494,;RP11-61E11.1,upstream_gene_variant,,ENST00000547750,;ALDH1L2,missense_variant,p.Phe107Ser,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000552427,;ALDH1L2,upstream_gene_variant,,ENST00000549335,;	461	166	175	SUCCESS
SSH1	54434	.	GRCh37	12	109182074	109182074	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774736977	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	29	0	ENST00000326495.5:c.2840A>G	p.Lys947Arg	p.K947R	ENST00000326495	NM_018984.3	947	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS9121.1	2840	RADIA|MUSE	.	CGGGCTTCCCA	NONE	.	.	hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138	.	.	ENSP00000315713	.	15/15	.	.	.	.	.	.	.	.	rs774736977	15/15	PASS	ENST00000326495	Transcript	.	.	ENSG00000084112	30579	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.071)	.	deleterious_low_confidence(0.04)	.	SSH1_HUMAN	SSH1	HGNC	.	.	UPI000003E894	SNV	SSH1,missense_variant,p.Lys947Arg,ENST00000326495,;SSH1,missense_variant,p.Lys635Arg,ENST00000360239,;SSH1,downstream_gene_variant,,ENST00000326470,;SSH1,downstream_gene_variant,,ENST00000551165,;SSH1,3_prime_UTR_variant,,ENST00000546433,;	2934	29	43	SUCCESS
IFT81	28981	.	GRCh37	12	110581329	110581331	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	90	48	179	0	ENST00000242591.5:c.928_930del	p.Leu310del	p.L310del	ENST00000242591	NM_014055.3	308	gaTCTt/gat	0	.	.	.	.	.	-	DL/D	protein_coding	YES	CCDS41831.1	924-926	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTGATCTTCTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15614:SF2,hmmpanther:PTHR15614	.	.	ENSP00000242591	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000242591	Transcript	.	.	ENSG00000122970	14313	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFT81_HUMAN	IFT81	HGNC	.	.	UPI000000D78F	deletion	IFT81,inframe_deletion,p.Leu310del,ENST00000242591,;IFT81,inframe_deletion,p.Leu280del,ENST00000546374,;IFT81,inframe_deletion,p.Leu310del,ENST00000361948,;IFT81,inframe_deletion,p.Leu310del,ENST00000552912,;IFT81,non_coding_transcript_exon_variant,,ENST00000549009,;IFT81,inframe_deletion,p.Leu280del,ENST00000550156,;IFT81,intron_variant,,ENST00000551273,;	1430-1432	179	138	SUCCESS
BRAP	8315	.	GRCh37	12	112093435	112093435	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	135	0	ENST00000419234.4:c.1246C>G	p.Leu416Val	p.L416V	ENST00000419234	NM_006768.3	416	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS9154.1	1246	MUTECT|MUSE|VARSCANS	.	TTCCAGCTGGC	NONE	.	.	hmmpanther:PTHR24007	.	.	ENSP00000403524	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000419234	Transcript	.	.	ENSG00000089234	1099	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.244)	.	deleterious(0)	.	BRAP_HUMAN	BRAP	HGNC	Q59H81_HUMAN,J3KNN7_HUMAN	.	UPI00001AF597	SNV	BRAP,missense_variant,p.Leu237Val,ENST00000539060,;BRAP,missense_variant,p.Leu386Val,ENST00000327551,;BRAP,missense_variant,p.Leu416Val,ENST00000419234,;BRAP,non_coding_transcript_exon_variant,,ENST00000547043,;	1440	135	110	SUCCESS
MED13L	23389	.	GRCh37	12	116429410	116429410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	19	99	0	ENST00000281928.3:c.3349G>A	p.Asp1117Asn	p.D1117N	ENST00000281928	NM_015335.4	1117	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9177.1	3349	RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCGGAGA	NONE	.	.	hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	.	ENSP00000281928	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,missense_variant,p.Asp1117Asn,ENST00000281928,;	3556	99	189	SUCCESS
DNAH10	196385	.	GRCh37	12	124305198	124305198	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781073451	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	12	138	0	ENST00000409039.3:c.3718G>T	p.Ala1240Ser	p.A1240S	ENST00000409039	NM_207437.3	1240	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9255.2	3718	MUTECT|MUSE	.	CTAACGCTGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	23/78	.	.	.	.	.	.	.	.	rs781073451,COSM2226274	23/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.5)	.	.	0,1	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Ala1240Ser,ENST00000409039,;	3743	138	163	SUCCESS
DHX37	57647	.	GRCh37	12	125453127	125453127	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	29	0	ENST00000308736.2:c.1361G>T	p.Gly454Val	p.G454V	ENST00000308736	NM_032656.3	454	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9261.1	1361	MUTECT|MUSE|VARSCANS	.	ACTCGCCACTG	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Superfamily_domains:SSF52540	.	.	ENSP00000311135	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.027)	.	tolerated(0.07)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Gly454Val,ENST00000308736,;DHX37,missense_variant,p.Gly241Val,ENST00000544745,;DHX37,upstream_gene_variant,,ENST00000543962,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	1460	29	47	SUCCESS
ZNF10	7556	.	GRCh37	12	133733009	133733009	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	11	147	0	ENST00000248211.6:c.1177A>G	p.Ile393Val	p.I393V	ENST00000248211	NM_015394.4	393	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9283.1	1177	MUTECT|MUSE	.	ATCTCATTCTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,PROSITE_profiles:PS50157	.	.	ENSP00000248211	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000248211	Transcript	.	.	ENSG00000256223	12879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.068)	.	tolerated(0.21)	.	ZNF10_HUMAN	ZNF10	HGNC	Q9UG14_HUMAN,F5H6S6_HUMAN,F5H311_HUMAN,F5H0R3_HUMAN,F5GZ75_HUMAN	.	UPI0000073582	SNV	ZNF10,missense_variant,p.Ile393Val,ENST00000426665,;ZNF10,missense_variant,p.Ile259Val,ENST00000402932,;ZNF10,missense_variant,p.Ile393Val,ENST00000248211,;ZNF268,intron_variant,,ENST00000416488,;CTD-2140B24.4,intron_variant,,ENST00000540096,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000537119,;	1399	147	171	SUCCESS
SMCO3	440087	.	GRCh37	12	14959587	14959587	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	10	124	0	ENST00000316048.2:c.28G>C	p.Glu10Gln	p.E10Q	ENST00000316048	NM_001013698.2	10	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS41759.1	28	MUTECT|MUSE|VARSCANS	.	GTTCTCTGGGT	NONE	.	.	.	.	.	ENSP00000381895	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000316048	Transcript	.	.	ENSG00000179256	34401	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.26)	.	SMCO3_HUMAN	SMCO3	HGNC	.	.	UPI00001FB6CD	SNV	SMCO3,missense_variant,p.Glu10Gln,ENST00000316048,;C12orf60,intron_variant,,ENST00000330828,;WBP11,upstream_gene_variant,,ENST00000261167,;WBP11,upstream_gene_variant,,ENST00000535328,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;WBP11,upstream_gene_variant,,ENST00000544764,;WBP11,upstream_gene_variant,,ENST00000543316,;	101	124	109	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18534747	18534747	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	4	96	0	ENST00000266497.5:c.1805A>T	p.Glu602Val	p.E602V	ENST00000266497		602	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS44839.1	1805	MUTECT|MUSE	.	GAGTGAGCCTC	NONE	.	.	PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,Pfam_domain:PF00792,Superfamily_domains:SSF49562	.	.	ENSP00000404845	.	13/32	.	.	.	.	.	.	.	.	.	13/32	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.855)	.	tolerated(0.12)	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,missense_variant,p.Glu643Val,ENST00000538779,;PIK3C2G,missense_variant,p.Glu602Val,ENST00000266497,;PIK3C2G,missense_variant,p.Glu602Val,ENST00000433979,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	1921	96	112	SUCCESS
RECQL	5965	.	GRCh37	12	21643210	21643210	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	26	166	0	ENST00000421138.2:c.317G>C	p.Gly106Ala	p.G106A	ENST00000421138		106	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS31756.1	317	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCCAGCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,TIGRFAM_domain:TIGR00614,hmmpanther:PTHR13710:SF72,hmmpanther:PTHR13710,PROSITE_profiles:PS51192	.	.	ENSP00000416739	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000444129	Transcript	.	.	ENSG00000004700	9948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.34)	.	deleterious(0.01)	.	RECQ1_HUMAN	RECQL	HGNC	F8WD97_HUMAN,F8WA66_HUMAN,F5H4P4_HUMAN,F5H3W0_HUMAN,F5H2L2_HUMAN,F5GYB7_HUMAN	.	UPI0000167E2F	SNV	RECQL,missense_variant,p.Gly106Ala,ENST00000396093,;RECQL,missense_variant,p.Gly106Ala,ENST00000421138,;RECQL,missense_variant,p.Gly106Ala,ENST00000444129,;RECQL,missense_variant,p.Gly106Ala,ENST00000314748,;RECQL,missense_variant,p.Gly106Ala,ENST00000542432,;RECQL,missense_variant,p.Gly106Ala,ENST00000536240,;RECQL,downstream_gene_variant,,ENST00000536964,;RECQL,downstream_gene_variant,,ENST00000539672,;	786	166	153	SUCCESS
NRIP2	83714	.	GRCh37	12	2944113	2944113	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	8	128	0	ENST00000337508.4:c.37C>T	p.Pro13Ser	p.P13S	ENST00000337508	NM_031474.2	13	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS8514.1	37	MUTECT|MUSE	.	GGAGGGTCTCC	NONE	.	.	hmmpanther:PTHR12917:SF3,hmmpanther:PTHR12917	.	.	ENSP00000337501	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000337508	Transcript	.	.	ENSG00000053702	23078	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.11)	.	NRIP2_HUMAN	NRIP2	HGNC	F5H2G5_HUMAN,F5H065_HUMAN,A2RRE3_HUMAN	.	UPI000006E2A1	SNV	NRIP2,missense_variant,p.Pro13Ser,ENST00000337508,;NRIP2,splice_region_variant,,ENST00000542386,;NRIP2,intron_variant,,ENST00000542990,;ITFG2,downstream_gene_variant,,ENST00000542548,;ITFG2,intron_variant,,ENST00000552005,;ITFG2,upstream_gene_variant,,ENST00000537710,;ITFG2,downstream_gene_variant,,ENST00000538822,;ITFG2,downstream_gene_variant,,ENST00000540929,;	78	128	121	SUCCESS
FGF6	2251	.	GRCh37	12	4553334	4553334	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759669908	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	23	67	0	ENST00000228837.2:c.415G>A	p.Val139Ile	p.V139I	ENST00000228837	NM_020996.1	139	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8527.1	415	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACGAAGA	BUFFER|p.F138F|c.414C>T|4	byFrequency	.	hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263,Prints_domain:PR00262	.	.	ENSP00000228837	.	2/3	.	.	.	.	.	.	.	.	rs759669908,COSM239873	2/3	PASS	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.004)	.	tolerated(0.14)	0,1	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,missense_variant,p.Val18Ile,ENST00000543077,;FGF6,missense_variant,p.Val139Ile,ENST00000228837,;	459	67	188	SUCCESS
ACVRL1	94	.	GRCh37	12	52307800	52307800	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	18	84	0	ENST00000388922.4:c.568C>T	p.Leu190Phe	p.L190F	ENST00000388922	NM_000020.2	190	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31804.1	568	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCTCCCC	NONE	.	.	PROSITE_profiles:PS51256,hmmpanther:PTHR23255:SF59,hmmpanther:PTHR23255,Pfam_domain:PF08515,Gene3D:3.30.200.20,SMART_domains:SM00467,Superfamily_domains:SSF56112	.	.	ENSP00000373574	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000388922	Transcript	.	.	ENSG00000139567	175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ACVL1_HUMAN	ACVRL1	HGNC	D9IPD9_HUMAN,B4DUF0_HUMAN	.	UPI000000D9F4	SNV	ACVRL1,missense_variant,p.Leu204Phe,ENST00000550683,;ACVRL1,missense_variant,p.Leu190Phe,ENST00000388922,;ACVRL1,intron_variant,,ENST00000419526,;ACVRL1,intron_variant,,ENST00000547400,;ACVRL1,downstream_gene_variant,,ENST00000551576,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,upstream_gene_variant,,ENST00000547632,;	851	84	116	SUCCESS
TENC1	0	.	GRCh37	12	53446269	53446269	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	21	76	0	ENST00000314250.6:c.215A>T	p.Glu72Val	p.E72V	ENST00000314250	NM_170754.2	72	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS8842.1	245	MUTECT|MUSE|VARSCANS	.	ATGTGAAGCAA	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000319756	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000314276	Transcript	.	.	ENSG00000111077	19737	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	TENC1_HUMAN	TENC1	HGNC	.	.	UPI000013F790	SNV	TENC1,missense_variant,p.Glu72Val,ENST00000451358,;TENC1,missense_variant,p.Glu72Val,ENST00000549700,;TENC1,missense_variant,p.Glu72Val,ENST00000546602,;TENC1,missense_variant,p.Glu82Val,ENST00000314276,;TENC1,missense_variant,p.Glu72Val,ENST00000314250,;TENC1,missense_variant,p.Glu72Val,ENST00000552570,;TENC1,5_prime_UTR_variant,,ENST00000379902,;RP11-983P16.4,intron_variant,,ENST00000550601,;RP11-983P16.4,intron_variant,,ENST00000546793,;RP11-983P16.4,downstream_gene_variant,,ENST00000551890,;TENC1,non_coding_transcript_exon_variant,,ENST00000552403,;TENC1,non_coding_transcript_exon_variant,,ENST00000549498,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;TENC1,downstream_gene_variant,,ENST00000551302,;TENC1,upstream_gene_variant,,ENST00000551693,;	440	76	150	SUCCESS
HOXC4	3221	.	GRCh37	12	54447739	54447739	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs377491433	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	13	77	0	ENST00000303406.4:c.33C>A	p.Asn11Lys	p.N11K	ENST00000303406	NM_014620.4	11	aaC/aaA	0	T:0.0002	.	.	.	.	A	N/K	protein_coding	YES	CCDS8873.1	33	RADIA|MUTECT|MUSE|VARSCANS	.	TCTAACTACAT	NONE	byCluster	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF146	.	T:0	ENSP00000399808	.	1/2	.	.	.	.	.	.	.	.	rs377491433	1/2	PASS	ENST00000430889	Transcript	.	.	ENSG00000273266	5126	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.048)	.	tolerated(0.23)	.	HXC4_HUMAN	HOXC4	Uniprot_gn	.	.	UPI000013E89C	SNV	HOXC4,missense_variant,p.Asn11Lys,ENST00000430889,;HOXC4,missense_variant,p.Asn11Lys,ENST00000609810,;HOXC4,missense_variant,p.Asn11Lys,ENST00000303406,;RP11-834C11.3,upstream_gene_variant,,ENST00000515617,;HOXC4,downstream_gene_variant,,ENST00000507650,;	79	77	120	SUCCESS
OR6C74	254783	.	GRCh37	12	55641327	55641327	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772386317	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	19	198	0	ENST00000343870.4:c.256G>A	p.Gly86Ser	p.G86S	ENST00000343870	NM_001005490.1	86	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS31816.1	256	RADIA|MUTECT|VARSCANS	.	CAACAGGTGAT	BUFFER|p.G86D|c.257G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342836	.	1/1	.	.	.	.	.	.	.	.	rs772386317	1/1	PASS	ENST00000343870	Transcript	.	.	ENSG00000197706	31303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	O6C74_HUMAN	OR6C74	HGNC	.	.	UPI000016150B	SNV	OR6C74,missense_variant,p.Gly86Ser,ENST00000343870,;	346	198	239	SUCCESS
OR6C75	390323	.	GRCh37	12	55759521	55759521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	312	14	319	0	ENST00000343399.3:c.627G>T	p.Leu209Phe	p.L209F	ENST00000343399	NM_001005497.1	209	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31820.1	627	MUTECT|MUSE	.	ACCTTGACATT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,PROSITE_profiles:PS50262	.	.	ENSP00000368987	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343399	Transcript	.	.	ENSG00000187857	31304	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.02)	.	O6C75_HUMAN	OR6C75	HGNC	.	.	UPI000023786C	SNV	OR6C75,missense_variant,p.Leu209Phe,ENST00000343399,;	627	319	326	SUCCESS
CNPY2	10330	.	GRCh37	12	56708752	56708752	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	12	83	0	ENST00000273308.4:c.89-2A>G		p.X30_splice	ENST00000273308	NM_014255.5	30		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8914.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGGTGG	NONE	.	.	.	.	.	ENSP00000273308	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273308	Transcript	.	.	ENSG00000257727	13529	.	.	HIGH	2/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNPY2_HUMAN	CNPY2	HGNC	H0YI18_HUMAN,F8W1K5_HUMAN,F8VXJ7_HUMAN	.	UPI000004C630	SNV	CNPY2,splice_acceptor_variant,,ENST00000551475,;CNPY2,splice_acceptor_variant,,ENST00000551286,;RP11-977G19.10,splice_acceptor_variant,,ENST00000549318,;RP11-977G19.10,splice_acceptor_variant,,ENST00000548360,;RP11-977G19.10,splice_acceptor_variant,,ENST00000547423,;CNPY2,splice_acceptor_variant,,ENST00000273308,;PAN2,downstream_gene_variant,,ENST00000425394,;PAN2,downstream_gene_variant,,ENST00000257931,;PAN2,downstream_gene_variant,,ENST00000440411,;PAN2,downstream_gene_variant,,ENST00000548043,;RP11-977G19.11,downstream_gene_variant,,ENST00000549860,;RP11-977G19.11,downstream_gene_variant,,ENST00000549565,;CNPY2,splice_acceptor_variant,,ENST00000551720,;CNPY2,splice_acceptor_variant,,ENST00000551276,;PAN2,downstream_gene_variant,,ENST00000549090,;CNPY2,splice_acceptor_variant,,ENST00000547570,;CNPY2,splice_acceptor_variant,,ENST00000548013,;CNPY2,splice_acceptor_variant,,ENST00000553164,;CNPY2,coding_sequence_variant,p.%3D,ENST00000553191,;CNPY2,non_coding_transcript_exon_variant,,ENST00000546388,;PAN2,downstream_gene_variant,,ENST00000547226,;PAN2,downstream_gene_variant,,ENST00000552630,;CNPY2,upstream_gene_variant,,ENST00000546937,;PAN2,downstream_gene_variant,,ENST00000550028,;PAN2,downstream_gene_variant,,ENST00000551359,;PAN2,downstream_gene_variant,,ENST00000553230,;PAN2,downstream_gene_variant,,ENST00000547100,;CNPY2,upstream_gene_variant,,ENST00000546466,;	.	83	135	SUCCESS
BAZ2A	11176	.	GRCh37	12	56993854	56993854	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780106566	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	16	77	0	ENST00000551812.1:c.4925G>T	p.Arg1642Leu	p.R1642L	ENST00000551812	NM_013449.3	1642	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS44924.1	4925	MUTECT|MUSE|VARSCANS	.	AGACACGAATG	NONE	byFrequency	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141	.	.	ENSP00000446880	.	25/29	.	.	.	.	.	.	.	.	rs780106566,COSM279122,COSM279123	25/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.902)	.	deleterious(0.04)	0,1,1	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,missense_variant,p.Arg1612Leu,ENST00000379441,;BAZ2A,missense_variant,p.Arg574Leu,ENST00000549787,;BAZ2A,missense_variant,p.Arg1610Leu,ENST00000179765,;BAZ2A,missense_variant,p.Arg1642Leu,ENST00000551812,;BAZ2A,missense_variant,p.Arg1640Leu,ENST00000549884,;BAZ2A,downstream_gene_variant,,ENST00000547453,;BAZ2A,downstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000551759,;	5119	77	178	SUCCESS
LRP1	4035	.	GRCh37	12	57571304	57571304	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769070816	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	18	82	0	ENST00000243077.3:c.4291G>T	p.Gly1431Cys	p.G1431C	ENST00000243077	NM_002332.2	1431	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS8932.1	4291	RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGGCTCT	NONE	byFrequency	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	26/89	.	.	.	.	.	.	.	.	rs769070816	26/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Gly1431Cys,ENST00000243077,;	4757	82	117	SUCCESS
PLEKHG6	55200	.	GRCh37	12	6436974	6436974	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	15	0	ENST00000011684.7:c.2225T>C	p.Ile742Thr	p.I742T	ENST00000011684	NM_018173.3	742	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS8541.1	2225	RADIA|MUTECT|MUSE	.	AGAGATCCGGG	NONE	.	.	hmmpanther:PTHR22825:SF13,hmmpanther:PTHR22825	.	.	ENSP00000380185	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000396988	Transcript	.	.	ENSG00000008323	25562	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.791)	.	deleterious_low_confidence(0)	.	PKHG6_HUMAN	PLEKHG6	HGNC	.	.	UPI000013EFF6	SNV	PLEKHG6,missense_variant,p.Ile742Thr,ENST00000011684,;PLEKHG6,missense_variant,p.Ile272Thr,ENST00000304581,;PLEKHG6,missense_variant,p.Ile742Thr,ENST00000396988,;PLEKHG6,missense_variant,p.Ile710Thr,ENST00000449001,;TNFRSF1A,downstream_gene_variant,,ENST00000366159,;TNFRSF1A,downstream_gene_variant,,ENST00000539372,;TNFRSF1A,downstream_gene_variant,,ENST00000540022,;TNFRSF1A,downstream_gene_variant,,ENST00000162749,;TNFRSF1A,downstream_gene_variant,,ENST00000535038,;TNFRSF1A,downstream_gene_variant,,ENST00000543359,;TNFRSF1A,downstream_gene_variant,,ENST00000537842,;TNFRSF1A,downstream_gene_variant,,ENST00000437813,;TNFRSF1A,downstream_gene_variant,,ENST00000536717,;TNFRSF1A,downstream_gene_variant,,ENST00000543995,;TNFRSF1A,downstream_gene_variant,,ENST00000534885,;	2455	15	37	SUCCESS
TBK1	29110	.	GRCh37	12	64882345	64882345	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	105	263	0	ENST00000331710.5:c.1419A>G	p.Arg473=	p.R473=	ENST00000331710	NM_013254.3	473	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS8968.1	1419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAAACAT	NONE	.	.	hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF14	.	.	ENSP00000329967	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000331710	Transcript	.	.	ENSG00000183735	11584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBK1_HUMAN	TBK1	HGNC	F5H206_HUMAN,F5H1A3_HUMAN,F5GZI4_HUMAN,B4E164_HUMAN	.	UPI0000035B47	SNV	TBK1,synonymous_variant,p.%3D,ENST00000331710,;TBK1,non_coding_transcript_exon_variant,,ENST00000536906,;TBK1,downstream_gene_variant,,ENST00000545025,;	1758	263	267	SUCCESS
WIF1	11197	.	GRCh37	12	65448938	65448938	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	139	0	ENST00000286574.4:c.978C>G	p.Cys326Trp	p.C326W	ENST00000286574	NM_007191.4	326	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS8971.1	978	MUTECT|MUSE	.	CATTGGCATTT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF12661,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000286574	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000286574	Transcript	.	.	ENSG00000156076	18081	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	WIF1_HUMAN	WIF1	HGNC	F5H8A3_HUMAN,B4DX53_HUMAN	.	UPI0000038BEE	SNV	WIF1,missense_variant,p.Cys326Trp,ENST00000286574,;WIF1,missense_variant,p.Cys75Trp,ENST00000543094,;	1353	139	88	SUCCESS
VAMP1	6843	.	GRCh37	12	6575091	6575091	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	13	122	0	ENST00000396308.3:c.205G>C	p.Ala69Pro	p.A69P	ENST00000396308	NM_199245.1	69	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS41740.1	205	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGCTCGGT	NONE	.	.	Prints_domain:PR00219,Superfamily_domains:SSF58038,PIRSF_domain:PIRSF005409,Gene3D:2kogA00,Pfam_domain:PF00957,PROSITE_patterns:PS00417,hmmpanther:PTHR21136:SF32,hmmpanther:PTHR21136,PROSITE_profiles:PS50892	.	.	ENSP00000379602	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.6)	.	deleterious(0)	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	SNV	VAMP1,missense_variant,p.Ala69Pro,ENST00000396308,;VAMP1,missense_variant,p.Ala69Pro,ENST00000361716,;VAMP1,missense_variant,p.Ala69Pro,ENST00000535180,;VAMP1,missense_variant,p.Ala69Pro,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;VAMP1,non_coding_transcript_exon_variant,,ENST00000539047,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;VAMP1,non_coding_transcript_exon_variant,,ENST00000544432,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,non_coding_transcript_exon_variant,,ENST00000535927,;VAMP1,non_coding_transcript_exon_variant,,ENST00000538970,;	351	122	137	SUCCESS
B4GALNT3	283358	.	GRCh37	12	668557	668557	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	10	60	0	ENST00000266383.5:c.2858G>A	p.Trp953Ter	p.W953*	ENST00000266383	NM_173593.3	953	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS8504.1	2858	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTGGGGCG	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000266383	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,stop_gained,p.Trp953Ter,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;NINJ2,downstream_gene_variant,,ENST00000305108,;NINJ2,downstream_gene_variant,,ENST00000397265,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	2871	60	94	SUCCESS
ATN1	1822	.	GRCh37	12	7045220	7045220	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	36	0	ENST00000356654.4:c.790A>T	p.Ser264Cys	p.S264C	ENST00000356654	NM_001007026.1	264	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS31734.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCAAGCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13859:SF9,hmmpanther:PTHR13859	.	.	ENSP00000349076	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000356654	Transcript	.	.	ENSG00000111676	3033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	.	.	ATN1_HUMAN	ATN1	HGNC	Q86V38_HUMAN	.	UPI000006F554	SNV	ATN1,missense_variant,p.Ser264Cys,ENST00000396684,;ATN1,missense_variant,p.Ser264Cys,ENST00000356654,;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;	1027	36	29	SUCCESS
PTPRB	5787	.	GRCh37	12	70960239	70960239	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374292920	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	21	408	0	ENST00000261266.5:c.3226G>C	p.Glu1076Gln	p.E1076Q	ENST00000261266	NM_002837.4	1076	Gaa/Caa	0	T:0	.	.	.	.	G	E/Q	protein_coding	YES	CCDS44943.1	3880	MUTECT|VARSCANS	.	GGCTTCCTTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	T:0.0002	ENSP00000334928	.	15/34	.	.	.	.	.	.	.	.	rs374292920	15/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.031)	.	tolerated(0.32)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Glu1206Gln,ENST00000550358,;PTPRB,missense_variant,p.Glu1293Gln,ENST00000551525,;PTPRB,missense_variant,p.Glu1076Gln,ENST00000261266,;PTPRB,missense_variant,p.Glu986Gln,ENST00000451516,;PTPRB,missense_variant,p.Glu1173Gln,ENST00000548122,;PTPRB,missense_variant,p.Glu986Gln,ENST00000550857,;PTPRB,missense_variant,p.Glu1294Gln,ENST00000334414,;PTPRB,intron_variant,,ENST00000538708,;	3925	408	232	SUCCESS
CD163L1	283316	.	GRCh37	12	7522105	7522105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	78	1	ENST00000313599.3:c.3887T>C	p.Leu1296Pro	p.L1296P	ENST00000313599		1296	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8577.1	3887	MUTECT|MUSE|VARSCANS	.	CCCTCAGGGCA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000315945	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000313599	Transcript	.	.	ENSG00000177675	30375	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.049)	.	tolerated(0.25)	.	C163B_HUMAN	CD163L1	HGNC	F5H7R7_HUMAN	.	UPI000013F5AD	SNV	CD163L1,missense_variant,p.Leu1306Pro,ENST00000416109,;CD163L1,missense_variant,p.Leu1296Pro,ENST00000313599,;CD163L1,missense_variant,p.Leu1296Pro,ENST00000396630,;CD163L1,upstream_gene_variant,,ENST00000539726,;CD163L1,upstream_gene_variant,,ENST00000545597,;CD163L1,upstream_gene_variant,,ENST00000543841,;CD163L1,upstream_gene_variant,,ENST00000546182,;	3945	79	76	SUCCESS
OSBPL8	114882	.	GRCh37	12	76752567	76752567	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	74	424	0	ENST00000261183.3:c.2353A>T	p.Lys785Ter	p.K785*	ENST00000261183	NM_020841.4	785	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS31862.1	2353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTTATGTT	NONE	.	.	Superfamily_domains:0051579	.	.	ENSP00000261183	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000261183	Transcript	.	.	ENSG00000091039	16396	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL8_HUMAN	OSBPL8	HGNC	Q96E43_HUMAN,Q6ZME5_HUMAN,F8VZB8_HUMAN,F8VVE7_HUMAN,F8VVD3_HUMAN,F8VQX7_HUMAN	.	UPI000006ECD1	SNV	OSBPL8,stop_gained,p.Lys785Ter,ENST00000261183,;OSBPL8,stop_gained,p.Lys743Ter,ENST00000393250,;OSBPL8,stop_gained,p.Lys743Ter,ENST00000393249,;	2833	425	203	SUCCESS
SLC2A3	6515	.	GRCh37	12	8086448	8086448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	11	142	0	ENST00000075120.7:c.66C>A	p.Phe22Leu	p.F22L	ENST00000075120	NM_006931.2	22	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS8586.1	66	MUTECT|MUSE	.	AATTGGAAAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Superfamily_domains:SSF103473,Prints_domain:PR00171	.	.	ENSP00000075120	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000075120	Transcript	.	.	ENSG00000059804	11007	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	tolerated(0.81)	.	GTR3_HUMAN	SLC2A3	HGNC	.	.	UPI0000001C7D	SNV	SLC2A3,missense_variant,p.Phe22Leu,ENST00000075120,;SLC2A3,intron_variant,,ENST00000544291,;SLC2A3,missense_variant,p.Phe22Leu,ENST00000544936,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000476634,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000541671,;SLC2A3,upstream_gene_variant,,ENST00000479059,;SLC2A3,upstream_gene_variant,,ENST00000490763,;	307	142	139	SUCCESS
PTPRQ	374462	.	GRCh37	12	81004359	81004359	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	10	82	0	ENST00000266688.5:c.4861G>C	p.Glu1621Gln	p.E1621Q	ENST00000266688		1621	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	.	4861	MUTECT|MUSE|VARSCANS	.	ATGTAGAAGGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10	.	.	ENSP00000266688	.	33/50	.	.	.	.	.	.	.	.	.	33/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.521)	.	tolerated(0.06)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Glu1621Gln,ENST00000266688,;	4861	82	128	SUCCESS
PPFIA2	8499	.	GRCh37	12	81746949	81746949	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753367719	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	6	188	0	ENST00000549396.1:c.1943C>A	p.Thr648Lys	p.T648K	ENST00000549396	NM_003625.3	648	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS55857.1	1943	MUTECT|MUSE	.	CTAGCGTCTGG	NONE	byFrequency	.	hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	17/33	.	.	.	.	.	.	.	.	rs753367719	17/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,missense_variant,p.Thr630Lys,ENST00000333447,;PPFIA2,missense_variant,p.Thr574Lys,ENST00000407050,;PPFIA2,missense_variant,p.Thr215Lys,ENST00000541570,;PPFIA2,missense_variant,p.Thr549Lys,ENST00000443686,;PPFIA2,missense_variant,p.Thr495Lys,ENST00000550359,;PPFIA2,missense_variant,p.Thr229Lys,ENST00000553058,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000548586,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000549396,;PPFIA2,missense_variant,p.Thr630Lys,ENST00000549325,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000550584,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000552948,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,upstream_gene_variant,,ENST00000549917,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	2104	188	147	SUCCESS
CLEC4E	26253	.	GRCh37	12	8692481	8692481	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	21	75	0	ENST00000299663.3:c.100C>T	p.Leu34Phe	p.L34F	ENST00000299663	NM_014358.2	34	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS8594.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAGAAATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22802:SF217,hmmpanther:PTHR22802	.	.	ENSP00000299663	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000299663	Transcript	.	.	ENSG00000166523	14555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CLC4E_HUMAN	CLEC4E	HGNC	.	.	UPI0000037798	SNV	CLEC4E,missense_variant,p.Leu34Phe,ENST00000545274,;CLEC4E,missense_variant,p.Leu34Phe,ENST00000446457,;CLEC4E,missense_variant,p.Leu34Phe,ENST00000299663,;CLEC4E,upstream_gene_variant,,ENST00000537698,;CLEC4E,missense_variant,p.Leu34Phe,ENST00000450725,;CLEC4E,non_coding_transcript_exon_variant,,ENST00000446809,;	266	75	112	SUCCESS
C12orf29	91298	.	GRCh37	12	88429335	88429335	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs545397884	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	15	0	ENST00000356891.3:c.-91C>G		p.*31*	ENST00000356891	NM_001009894.2			0	.	T:0.0008	.	T:0	.	G	.	protein_coding	YES	CCDS31866.1	.	RADIA|MUTECT	.	TGAGCCGTGCG	NONE	by1000G	.	.	T:0	.	ENSP00000349358	T:0	1/7	.	.	.	.	.	.	.	.	rs545397884	1/7	PASS	ENST00000356891	Transcript	.	T:0.0002	ENSG00000133641	25322	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CL029_HUMAN	C12orf29	HGNC	.	.	UPI000019908D	SNV	C12orf29,5_prime_UTR_variant,,ENST00000356891,;C12orf29,intron_variant,,ENST00000549345,;C12orf29,intron_variant,,ENST00000548757,;C12orf50,upstream_gene_variant,,ENST00000546547,;C12orf29,5_prime_UTR_variant,,ENST00000552121,;C12orf29,5_prime_UTR_variant,,ENST00000552847,;C12orf29,5_prime_UTR_variant,,ENST00000550333,;C12orf29,upstream_gene_variant,,ENST00000453037,;C12orf29,upstream_gene_variant,,ENST00000552803,;C12orf29,upstream_gene_variant,,ENST00000548511,;	113	15	11	SUCCESS
GALNT4	8693	.	GRCh37	12	89916794	89916794	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	11	107	0	ENST00000529983.2:c.1533T>G	p.Asn511Lys	p.N511K	ENST00000529983	NM_003774.4	511	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS53817.1	1533	MUTECT|VARSCANS	.	ACATAATTTTT	NONE	.	.	Superfamily_domains:SSF50370,SMART_domains:SM00458,Gene3D:2.80.10.50,Pfam_domain:PF00652,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF7,PROSITE_profiles:PS50231	.	.	ENSP00000436604	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529983	Transcript	.	.	ENSG00000257594	4126	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.41)	.	GALT4_HUMAN	GALNT4	HGNC	.	.	UPI00001C036C	SNV	GALNT4,missense_variant,p.Asn511Lys,ENST00000529983,;POC1B-GALNT4,missense_variant,p.Asn508Lys,ENST00000548729,;GALNT4,missense_variant,p.Asn339Lys,ENST00000413530,;POC1B-GALNT4,3_prime_UTR_variant,,ENST00000547474,;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000549504,;POC1B,intron_variant,,ENST00000549035,;POC1B,intron_variant,,ENST00000313546,;RP11-734K2.4,upstream_gene_variant,,ENST00000605233,;POC1B,intron_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000546830,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000547274,;POC1B,intron_variant,,ENST00000547496,;	1790	107	132	SUCCESS
FGD6	55785	.	GRCh37	12	95603522	95603522	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	7	166	0	ENST00000343958.4:c.1538C>G	p.Ala513Gly	p.A513G	ENST00000343958	NM_018351.3	513	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS31878.1	1538	MUTECT|MUSE	.	AGGCAGCCTTT	NONE	.	.	hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673	.	.	ENSP00000344446	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,missense_variant,p.Ala513Gly,ENST00000549499,;FGD6,missense_variant,p.Ala513Gly,ENST00000546711,;FGD6,missense_variant,p.Ala513Gly,ENST00000343958,;FGD6,upstream_gene_variant,,ENST00000550368,;FGD6,intron_variant,,ENST00000451107,;	1762	166	171	SUCCESS
TMPO	7112	.	GRCh37	12	98938066	98938066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	30	164	0	ENST00000556029.1:c.722G>A	p.Gly241Glu	p.G241E	ENST00000556029	NM_001032283.2	241	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	.	CCDS31879.1	722	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGACCTC	NONE	.	.	hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF3	.	.	ENSP00000450627	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000556029	Transcript	.	.	ENSG00000120802	11875	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAP2B_HUMAN	TMPO	HGNC	Q9P1N8_HUMAN	.	UPI0000143267	SNV	TMPO,missense_variant,p.Gly241Glu,ENST00000556029,;TMPO,intron_variant,,ENST00000393053,;TMPO,intron_variant,,ENST00000343315,;TMPO,intron_variant,,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000548223,;TMPO,upstream_gene_variant,,ENST00000551987,;	1078	164	230	SUCCESS
APAF1	317	.	GRCh37	12	99117014	99117014	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	6	178	0	ENST00000551964.1:c.3128A>G	p.His1043Arg	p.H1043R	ENST00000551964	NM_181861.1	1043	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9069.1	3128	MUTECT|MUSE	.	AGGCCATCAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,Pfam_domain:PF00400,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037646,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000448165	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.838)	.	deleterious(0.05)	.	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.His1000Arg,ENST00000357310,;APAF1,missense_variant,p.His1032Arg,ENST00000550527,;APAF1,missense_variant,p.His1000Arg,ENST00000339433,;APAF1,missense_variant,p.His1000Arg,ENST00000547045,;APAF1,missense_variant,p.His989Arg,ENST00000359972,;APAF1,missense_variant,p.His1000Arg,ENST00000549007,;APAF1,missense_variant,p.His1043Arg,ENST00000551964,;APAF1,intron_variant,,ENST00000552268,;APAF1,intron_variant,,ENST00000333991,;APAF1,upstream_gene_variant,,ENST00000552929,;ANKS1B,downstream_gene_variant,,ENST00000555119,;	3864	178	174	SUCCESS
NALCN	259232	.	GRCh37	13	101717813	101717813	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	13	57	0	ENST00000251127.6:c.4547G>A	p.Cys1516Tyr	p.C1516Y	ENST00000251127	NM_052867.2	1516	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS9498.1	4547	RADIA|MUTECT|VARSCANS	.	CGTAGCACATG	NONE	.	.	hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037	.	.	ENSP00000251127	.	40/44	.	.	.	.	.	.	.	.	.	40/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,missense_variant,p.Cys1516Tyr,ENST00000251127,;	4629	57	107	SUCCESS
COL4A2	1284	.	GRCh37	13	111117937	111117937	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	35	1	ENST00000360467.5:c.1962G>A	p.Gly654=	p.G654=	ENST00000360467	NM_001846.2	654	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41907.1	1962	SOMATICSNIPER|VARSCANS	.	GCAGGGACCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	.	.	ENSP00000353654	.	25/48	.	.	.	.	.	.	.	.	.	25/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,synonymous_variant,p.%3D,ENST00000360467,;COL4A2-AS2,upstream_gene_variant,,ENST00000458403,;COL4A2,downstream_gene_variant,,ENST00000478681,;COL4A2,upstream_gene_variant,,ENST00000494852,;	2268	36	59	SUCCESS
NBEA	26960	.	GRCh37	13	35731313	35731313	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776613118	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	33	202	0	ENST00000400445.3:c.2750A>G	p.Tyr917Cys	p.Y917C	ENST00000400445	NM_015678.4	917	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45026.1	2750	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTACAATA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	21/58	.	.	.	.	.	.	.	.	rs776613118	21/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Tyr917Cys,ENST00000400445,;NBEA,missense_variant,p.Tyr917Cys,ENST00000540320,;NBEA,missense_variant,p.Tyr917Cys,ENST00000310336,;NBEA,missense_variant,p.Tyr917Cys,ENST00000379939,;	3284	202	180	SUCCESS
NBEA	26960	.	GRCh37	13	35756573	35756573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs986998229	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	20	266	0	ENST00000400445.3:c.4739G>A	p.Arg1580His	p.R1580H	ENST00000400445	NM_015678.4	1580	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS45026.1	4739	MUTECT|MUSE	.	GTATCGTGACA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	29/58	.	.	.	.	.	.	.	.	COSM947022	29/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Arg1580His,ENST00000400445,;NBEA,missense_variant,p.Arg1580His,ENST00000540320,;NBEA,missense_variant,p.Arg1580His,ENST00000310336,;NBEA,missense_variant,p.Arg1577His,ENST00000379939,;SCAND3P1,upstream_gene_variant,,ENST00000439854,;	5273	266	236	SUCCESS
MAB21L1	4081	.	GRCh37	13	36050192	36050192	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	10	76	0	ENST00000379919.4:c.84C>A	p.Ala28=	p.A28=	ENST00000379919	NM_005584.4	28	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9353.1	84	MUTECT|MUSE|VARSCANS	.	GTTTTGGCAAT	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,synonymous_variant,p.%3D,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	641	76	109	SUCCESS
MAB21L1	4081	.	GRCh37	13	36050193	36050193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	11	76	0	ENST00000379919.4:c.83C>A	p.Ala28Asp	p.A28D	ENST00000379919	NM_005584.4	28	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS9353.1	83	MUTECT|MUSE|VARSCANS	.	TTTTGGCAATG	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.14)	.	tolerated(0.37)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Ala28Asp,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	640	76	108	SUCCESS
NBEA	26960	.	GRCh37	13	36229035	36229036	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	102	18	94	0	ENST00000400445.3:c.8016_8017insC	p.Asp2673ArgfsTer17	p.D2673Rfs*17	ENST00000400445	NM_015678.4	2672	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS45026.1	8016-8017	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCGTTGACCA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.130.10.10,SMART_domains:SM00320	.	.	ENSP00000383295	.	53/58	.	.	.	.	.	.	.	.	.	53/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	insertion	NBEA,frameshift_variant,p.Asp2673ArgfsTer17,ENST00000400445,;NBEA,frameshift_variant,p.Asp2673ArgfsTer17,ENST00000540320,;NBEA,frameshift_variant,p.Asp251ArgfsTer17,ENST00000379922,;NBEA,frameshift_variant,p.Asp2673ArgfsTer17,ENST00000310336,;NBEA,frameshift_variant,p.Asp466ArgfsTer17,ENST00000537702,;NBEA,frameshift_variant,p.Asp2670ArgfsTer17,ENST00000379939,;	8550-8551	94	120	SUCCESS
RFXAP	5994	.	GRCh37	13	37399580	37399580	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	34	0	ENST00000255476.2:c.616A>G	p.Ile206Val	p.I206V	ENST00000255476	NM_000538.3	206	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9359.1	616	MUTECT|VARSCANS	.	ATAACATACTC	NONE	.	.	Pfam_domain:PF15289,hmmpanther:PTHR15110	.	.	ENSP00000255476	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000255476	Transcript	.	.	ENSG00000133111	9988	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.078)	.	tolerated_low_confidence(0.61)	.	RFXAP_HUMAN	RFXAP	HGNC	.	.	UPI0000133812	SNV	RFXAP,missense_variant,p.Ile206Val,ENST00000255476,;RFXAP,non_coding_transcript_exon_variant,,ENST00000472888,;	750	34	50	SUCCESS
FREM2	341640	.	GRCh37	13	39265055	39265055	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	39	281	1	ENST00000280481.7:c.3574G>T	p.Glu1192Ter	p.E1192*	ENST00000280481	NM_207361.4	1192	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31960.1	3574	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGAGATG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,stop_gained,p.Glu1192Ter,ENST00000280481,;	3790	282	292	SUCCESS
FREM2	341640	.	GRCh37	13	39265478	39265478	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	26	87	0	ENST00000280481.7:c.3997G>C	p.Asp1333His	p.D1333H	ENST00000280481	NM_207361.4	1333	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS31960.1	3997	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAGATTCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	COSM170756	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Asp1333His,ENST00000280481,;	4213	87	174	SUCCESS
AKAP11	11215	.	GRCh37	13	42877120	42877120	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	63	0	ENST00000025301.2:c.4238C>A	p.Ser1413Ter	p.S1413*	ENST00000025301	NM_016248.3	1413	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS9383.1	4238	MUTECT|MUSE	.	GTTTTCAAACA	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,stop_gained,p.Ser1413Ter,ENST00000025301,;	4413	63	71	SUCCESS
RB1	5925	.	GRCh37	13	48947605	48947606	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	571	103	501	0	ENST00000267163.4:c.1196dup	p.Asn399LysfsTer7	p.N399Kfs*7	ENST00000267163	NM_000321.2	398	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS31973.1	1192-1193	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCAGAAAAT	BUFFER|p.Q395*|c.1183C>T|3,BUFFER|p.Q395Q|c.1185A>G|3,BUFFER|p.Q395Q|c.1185A>G|3	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Asn399LysfsTer7,ENST00000267163,;	1330-1331	501	674	SUCCESS
PCDH17	27253	.	GRCh37	13	58207559	58207559	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	65	0	ENST00000377918.3:c.879C>T	p.Leu293=	p.L293=	ENST00000377918	NM_001040429.2	293	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31986.1	879	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCTTCTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF41,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000367151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,synonymous_variant,p.%3D,ENST00000377918,;PCDH17,synonymous_variant,p.%3D,ENST00000484979,;	905	65	84	SUCCESS
RCOR1	23186	.	GRCh37	14	103174914	103174914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	55	0	ENST00000570597.1:c.764A>G	p.Glu255Gly	p.E255G	ENST00000570597		255	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9974.2	773	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11	.	.	ENSP00000262241	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000262241	Transcript	.	.	ENSG00000089902	17441	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.84)	.	tolerated(0.36)	.	.	RCOR1	HGNC	J3KN32_HUMAN	.	UPI0000D6A053	SNV	RCOR1,missense_variant,p.Glu258Gly,ENST00000262241,;RCOR1,missense_variant,p.Glu255Gly,ENST00000570597,;RCOR1,upstream_gene_variant,,ENST00000558495,;	999	55	73	SUCCESS
AHNAK2	113146	.	GRCh37	14	105419292	105419292	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1349623976	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	62	218	0	ENST00000333244.5:c.2496G>T	p.Lys832Asn	p.K832N	ENST00000333244	NM_138420.2	832	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS45177.1	2496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAACTTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.683)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Lys832Asn,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	2616	218	156	SUCCESS
IGHV3-53	28420	.	GRCh37	14	107048844	107048844	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	49	344	1	ENST00000390627.2:c.176C>T	p.Ala59Val	p.A59V	ENST00000390627		59	gCt/gTt	0	.	.	.	.	.	A	A/V	IG_V_gene	YES	.	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGCCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375036	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390627	Transcript	.	.	ENSG00000211967	5610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious_low_confidence(0.02)	.	.	IGHV3-53	HGNC	.	.	UPI000011AAC7	SNV	IGHV3-53,missense_variant,p.Ala59Val,ENST00000390627,;	397	345	224	SUCCESS
KLHL33	123103	.	GRCh37	14	20897958	20897958	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	7	42	0	ENST00000344581.4:c.877C>A	p.Leu293Ile	p.L293I	ENST00000344581	NM_001109997.2	293	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS53882.1	877	MUTECT|MUSE|VARSCANS	.	CCTGAGAGTTG	NONE	.	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000341549	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000344581	Transcript	.	.	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.068)	.	deleterious(0.02)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Leu293Ile,ENST00000344581,;	1100	42	86	SUCCESS
MYH6	4624	.	GRCh37	14	23866803	23866803	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	13	59	0	ENST00000356287.3:c.1911A>T	p.Lys637Asn	p.K637N	ENST00000356287		637	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9600.1	1911	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTTTGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.801)	.	deleterious(0.01)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Lys637Asn,ENST00000405093,;MYH6,missense_variant,p.Lys637Asn,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	1982	59	98	SUCCESS
NOVA1	4857	.	GRCh37	14	26917704	26917704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	41	0	ENST00000539517.2:c.985C>A	p.Leu329Ile	p.L329I	ENST00000539517	NM_002515.2	329	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS32061.1	985	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGATTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288	.	.	ENSP00000438875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.41)	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,missense_variant,p.Leu329Ile,ENST00000539517,;NOVA1,missense_variant,p.Leu305Ile,ENST00000465357,;NOVA1,missense_variant,p.Leu207Ile,ENST00000267422,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	1303	41	72	SUCCESS
MAP4K5	11183	.	GRCh37	14	50915494	50915494	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	142	0	ENST00000013125.4:c.1072A>G	p.Met358Val	p.M358V	ENST00000013125	NM_198794.2	358	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	.	1072	RADIA|MUTECT|MUSE|VARSCANS	.	TACCATTTCAT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,PIRSF_domain:PIRSF038172	.	.	ENSP00000013125	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000013125	Transcript	.	.	ENSG00000012983	6867	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.44)	.	M4K5_HUMAN	MAP4K5	HGNC	G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN	.	UPI00015DFDAA	SNV	MAP4K5,missense_variant,p.Met358Val,ENST00000013125,;RP11-406H23.2,upstream_gene_variant,,ENST00000555257,;MAP4K5,splice_region_variant,,ENST00000554990,;	1391	142	122	SUCCESS
C14orf166	0	.	GRCh37	14	52456408	52456408	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	44	0	ENST00000261700.3:c.51C>T	p.Phe17=	p.F17=	ENST00000261700	NM_016039.2	17	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS9705.1	51	MUTECT|MUSE|VARSCANS	.	GGCTTCAACTG	NONE	.	.	hmmpanther:PTHR15924,Pfam_domain:PF10036	.	.	ENSP00000261700	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000261700	Transcript	.	.	ENSG00000087302	23169	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CN166_HUMAN	C14orf166	HGNC	Q549M8_HUMAN	.	UPI000012759D	SNV	C14orf166,synonymous_variant,p.%3D,ENST00000261700,;C14orf166,synonymous_variant,p.%3D,ENST00000556760,;C14orf166,upstream_gene_variant,,ENST00000553362,;RP11-463J10.4,upstream_gene_variant,,ENST00000555115,;C14orf166,synonymous_variant,p.%3D,ENST00000557553,;	216	44	36	SUCCESS
TMEM260	54916	.	GRCh37	14	57070549	57070549	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	23	412	0	ENST00000261556.6:c.361G>A	p.Ala121Thr	p.A121T	ENST00000261556	NM_017799.3	121	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS9727.2	361	MUTECT|MUSE|VARSCANS	.	CATCTGCTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16214,Pfam_domain:PF11028	.	.	ENSP00000261556	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.867)	.	tolerated(0.06)	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,missense_variant,p.Ala121Thr,ENST00000261556,;TMEM260,missense_variant,p.Ala121Thr,ENST00000538838,;TMEM260,intron_variant,,ENST00000536419,;TMEM260,missense_variant,p.Ala121Thr,ENST00000539559,;TMEM260,5_prime_UTR_variant,,ENST00000556422,;TMEM260,non_coding_transcript_exon_variant,,ENST00000554981,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556079,;TMEM260,intron_variant,,ENST00000555497,;TMEM260,intron_variant,,ENST00000556929,;	483	412	260	SUCCESS
DAAM1	23002	.	GRCh37	14	59820665	59820665	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	9	108	0	ENST00000395125.1:c.2369T>A	p.Val790Glu	p.V790E	ENST00000395125	NM_014992.2	790	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS9737.1	2369	MUTECT|MUSE	.	AGAAGTGAAAC	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000378557	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000395125	Transcript	.	.	ENSG00000100592	18142	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	DAAM1_HUMAN	DAAM1	HGNC	.	.	UPI0000161FAA	SNV	DAAM1,missense_variant,p.Val790Glu,ENST00000351081,;DAAM1,missense_variant,p.Val790Glu,ENST00000395125,;DAAM1,missense_variant,p.Val780Glu,ENST00000360909,;DAAM1,splice_region_variant,,ENST00000553966,;DAAM1,non_coding_transcript_exon_variant,,ENST00000554459,;DAAM1,upstream_gene_variant,,ENST00000557029,;DAAM1,upstream_gene_variant,,ENST00000553307,;	2392	108	143	SUCCESS
GPR135	64582	.	GRCh37	14	59930780	59930780	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	32	0	ENST00000395116.1:c.1165A>G	p.Ile389Val	p.I389V	ENST00000395116	NM_022571.5	389	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9738.1	1165	MUTECT|MUSE|VARSCANS	.	GCGGATGGCGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000378548	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000395116	Transcript	.	.	ENSG00000181619	19991	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.44)	.	GP135_HUMAN	GPR135	HGNC	.	.	UPI0000046D5B	SNV	GPR135,missense_variant,p.Ile389Val,ENST00000395116,;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Ile389Val,ENST00000481661,;	1281	32	70	SUCCESS
C14orf39	317761	.	GRCh37	14	60921835	60921835	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	15	254	0	ENST00000321731.3:c.1387G>C	p.Val463Leu	p.V463L	ENST00000321731	NM_174978.2	463	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS9746.1	1387	MUTECT|MUSE	.	TTGAACTTCAG	NONE	.	.	.	.	.	ENSP00000324920	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.621)	.	tolerated(0.15)	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,missense_variant,p.Val463Leu,ENST00000321731,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;C14orf39,upstream_gene_variant,,ENST00000498565,;	1547	254	254	SUCCESS
HIF1A	3091	.	GRCh37	14	62207716	62207716	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	57	137	0	ENST00000337138.4:c.1903A>T	p.Ile635Phe	p.I635F	ENST00000337138	NM_001530.3	635	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS58324.1	1975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACATTAAA	NONE	.	.	hmmpanther:PTHR23043:SF7,hmmpanther:PTHR23043	.	.	ENSP00000437955	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000539097	Transcript	.	.	ENSG00000100644	4910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.71)	.	HIF1A_HUMAN	HIF1A	HGNC	F8W9L0_HUMAN,B4E2U7_HUMAN	.	UPI0001982748	SNV	HIF1A,missense_variant,p.Ile659Phe,ENST00000539097,;HIF1A,missense_variant,p.Ile635Phe,ENST00000337138,;HIF1A,missense_variant,p.Ile635Phe,ENST00000323441,;HIF1A,missense_variant,p.Ile576Phe,ENST00000557538,;HIF1A,missense_variant,p.Ile636Phe,ENST00000394997,;HIF1A-AS2,intron_variant,,ENST00000554254,;HIF1A,non_coding_transcript_exon_variant,,ENST00000555014,;RP11-618G20.1,intron_variant,,ENST00000555937,;HIF1A,upstream_gene_variant,,ENST00000556827,;HIF1A,downstream_gene_variant,,ENST00000547430,;	2204	137	148	SUCCESS
SYNE2	23224	.	GRCh37	14	64518635	64518635	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755099726	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	27	199	1	ENST00000344113.4:c.8004G>T	p.Leu2668Phe	p.L2668F	ENST00000344113	NM_015180.4	2668	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS9761.2	8004	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGACCAC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	48/116	.	.	.	.	.	.	.	.	rs755099726	48/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.822)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Leu2701Phe,ENST00000554584,;SYNE2,missense_variant,p.Leu2668Phe,ENST00000358025,;SYNE2,missense_variant,p.Leu2668Phe,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000557005,;	8234	200	205	SUCCESS
SLC10A1	6554	.	GRCh37	14	70252897	70252897	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs745341758	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	16	132	0	ENST00000216540.4:c.484T>C	p.Ser162Pro	p.S162P	ENST00000216540	NM_003049.3	162	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS9797.1	484	MUTECT|MUSE	.	CAGTGATATCA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18	.	.	ENSP00000216540	.	2/5	.	.	.	.	.	.	.	.	rs745341758	2/5	PASS	ENST00000216540	Transcript	.	.	ENSG00000100652	10905	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.854)	.	deleterious(0.02)	.	NTCP_HUMAN	SLC10A1	HGNC	Q9UK36_HUMAN	.	UPI0000130576	SNV	SLC10A1,missense_variant,p.Ser162Pro,ENST00000216540,;	618	132	210	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72190408	72190408	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	15	109	0	ENST00000555818.1:c.4316G>A	p.Ser1439Asn	p.S1439N	ENST00000555818	NM_015556.1	1439	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS9807.1	4316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAGTGCCC	NONE	.	.	hmmpanther:PTHR15711:SF10,hmmpanther:PTHR15711	.	.	ENSP00000450832	.	16/22	.	.	.	.	.	.	.	.	COSM3497645	16/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.914)	.	tolerated(0.13)	1	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,missense_variant,p.Ser893Asn,ENST00000537413,;SIPA1L1,missense_variant,p.Ser1418Asn,ENST00000358550,;SIPA1L1,missense_variant,p.Ser1418Asn,ENST00000381232,;SIPA1L1,missense_variant,p.Ser1439Asn,ENST00000555818,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;	4664	109	110	SUCCESS
DPF3	8110	.	GRCh37	14	73159816	73159816	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1261327739	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	233	27	382	1	ENST00000556509.1:c.710C>T	p.Ser237Phe	p.S237F	ENST00000556509	NM_001280542.1	237	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS45133.1	710	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGACCGA	NONE	.	.	hmmpanther:PTHR10615:SF12,hmmpanther:PTHR10615	.	.	ENSP00000441640	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000541685	Transcript	.	.	ENSG00000205683	17427	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.891)	.	deleterious(0.01)	.	DPF3_HUMAN	DPF3	HGNC	.	.	UPI0000246CC0	SNV	DPF3,missense_variant,p.Ser237Phe,ENST00000541685,;DPF3,missense_variant,p.Ser237Phe,ENST00000556509,;DPF3,missense_variant,p.Ser247Phe,ENST00000546183,;DPF3,non_coding_transcript_exon_variant,,ENST00000557704,;DPF3,non_coding_transcript_exon_variant,,ENST00000554594,;DPF3,non_coding_transcript_exon_variant,,ENST00000556238,;DPF3,missense_variant,p.Ser292Phe,ENST00000366353,;DPF3,missense_variant,p.Ser237Phe,ENST00000381216,;	723	383	260	SUCCESS
RPS6KL1	83694	.	GRCh37	14	75376302	75376303	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	147	16	55	0	ENST00000354625.2:c.1120dup	p.Glu374GlyfsTer62	p.E374Gfs*62	ENST00000354625		374	gag/gGag	0	.	.	.	.	.	C	E/GX	protein_coding	YES	CCDS9834.2	1213-1214	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGCTCGTGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR15508,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000452027	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000555647	Transcript	.	.	ENSG00000198208	20222	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPKL1_HUMAN	RPS6KL1	HGNC	.	.	UPI0000035B53	insertion	RPS6KL1,frameshift_variant,p.Glu405GlyfsTer62,ENST00000557413,;RPS6KL1,frameshift_variant,p.Glu24GlyfsTer48,ENST00000556848,;RPS6KL1,frameshift_variant,p.Glu405GlyfsTer62,ENST00000358328,;RPS6KL1,frameshift_variant,p.Glu374GlyfsTer62,ENST00000354625,;RPS6KL1,frameshift_variant,p.Glu405GlyfsTer62,ENST00000555647,;RPS6KL1,intron_variant,,ENST00000553789,;RPS6KL1,intron_variant,,ENST00000553971,;RPS6KL1,upstream_gene_variant,,ENST00000555910,;RPS6KL1,upstream_gene_variant,,ENST00000553315,;RPS6KL1,downstream_gene_variant,,ENST00000554900,;RPS6KL1,frameshift_variant,p.Glu374GlyfsTer62,ENST00000555009,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000553646,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000555834,;RPS6KL1,downstream_gene_variant,,ENST00000554834,;RPS6KL1,downstream_gene_variant,,ENST00000553894,;	1501-1502	55	163	SUCCESS
GPATCH2L	55668	.	GRCh37	14	76668083	76668083	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	12	172	0	ENST00000261530.7:c.1338A>G	p.Lys446=	p.K446=	ENST00000261530	NM_017926.2	446	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS9848.1	1338	MUTECT|MUSE	.	CCCAAATCACC	NONE	.	.	hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF3	.	.	ENSP00000261530	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000261530	Transcript	.	.	ENSG00000089916	20210	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPT2L_HUMAN	GPATCH2L	HGNC	G3V5D0_HUMAN	.	UPI000006FA38	SNV	GPATCH2L,synonymous_variant,p.%3D,ENST00000312858,;GPATCH2L,synonymous_variant,p.%3D,ENST00000261530,;GPATCH2L,intron_variant,,ENST00000556372,;GPATCH2L,intron_variant,,ENST00000556675,;GPATCH2L,3_prime_UTR_variant,,ENST00000554375,;	1404	172	171	SUCCESS
ZDHHC22	283576	.	GRCh37	14	77606003	77606003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	42	0	ENST00000319374.4:c.79C>T	p.Leu27Phe	p.L27F	ENST00000319374	NM_174976.2	27	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS45140.1	79	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGCTGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22883:SF12,hmmpanther:PTHR22883	.	.	ENSP00000318222	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000319374	Transcript	.	.	ENSG00000177108	20106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.48)	.	ZDH22_HUMAN	ZDHHC22	HGNC	G3V3N3_HUMAN,G3V259_HUMAN	.	UPI000059D283	SNV	ZDHHC22,missense_variant,p.Leu27Phe,ENST00000319374,;ZDHHC22,missense_variant,p.Leu27Phe,ENST00000555327,;ZDHHC22,missense_variant,p.Leu27Phe,ENST00000555389,;TMEM63C,intron_variant,,ENST00000557408,;AC007375.1,upstream_gene_variant,,ENST00000600936,;RP11-463C8.4,intron_variant,,ENST00000557752,;	282	42	48	SUCCESS
RPS6KA5	9252	.	GRCh37	14	91338575	91338575	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	31	229	0	ENST00000261991.3:c.2252C>G	p.Thr751Ser	p.T751S	ENST00000261991	NM_004755.2	751	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS9893.1	2252	RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGTGCTA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10	.	.	ENSP00000261991	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000261991	Transcript	.	.	ENSG00000100784	10434	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.899)	.	tolerated(0.67)	.	KS6A5_HUMAN	RPS6KA5	HGNC	Q9UG98_HUMAN,B7Z2Y5_HUMAN	.	UPI0000031C30	SNV	RPS6KA5,missense_variant,p.Thr751Ser,ENST00000261991,;RPS6KA5,missense_variant,p.Thr672Ser,ENST00000536315,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;	2426	229	297	SUCCESS
LRRK1	79705	.	GRCh37	15	101550657	101550657	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1267255810	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	64	187	1	ENST00000388948.3:c.992T>C	p.Leu331Pro	p.L331P	ENST00000388948	NM_024652.3	331	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42086.1	992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTACTTG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF239,Pfam_domain:PF00560,Gene3D:3.80.10.10,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000373600	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Leu331Pro,ENST00000388948,;LRRK1,missense_variant,p.Leu328Pro,ENST00000284395,;LRRK1,missense_variant,p.Leu331Pro,ENST00000531270,;LRRK1,missense_variant,p.Leu331Pro,ENST00000525284,;	1351	188	180	SUCCESS
HERC2	8924	.	GRCh37	15	28446674	28446674	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	464	23	283	0	ENST00000261609.7:c.7644C>G	p.Ser2548Arg	p.S2548R	ENST00000261609	NM_004667.5	2548	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS10021.1	7644	MUTECT|MUSE	.	GTCTGGCTCTC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	48/93	.	.	.	.	.	.	.	.	.	48/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.206)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Ser2548Arg,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	7753	283	488	SUCCESS
ARHGAP11A	9824	.	GRCh37	15	32928928	32928928	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	87	148	0	ENST00000361627.3:c.1954G>A	p.Val652Ile	p.V652I	ENST00000361627	NM_014783.3	652	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10028.1	1954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATAGTAGAA	NONE	.	.	hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670	.	.	ENSP00000355090	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000361627	Transcript	.	.	ENSG00000198826	15783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.75)	.	RHGBA_HUMAN	ARHGAP11A	HGNC	B4DZN9_HUMAN	.	UPI0000071553	SNV	ARHGAP11A,missense_variant,p.Val652Ile,ENST00000361627,;ARHGAP11A,missense_variant,p.Val463Ile,ENST00000565905,;ARHGAP11A,missense_variant,p.Val463Ile,ENST00000543522,;ARHGAP11A,downstream_gene_variant,,ENST00000567348,;SCG5,upstream_gene_variant,,ENST00000497208,;SCG5,upstream_gene_variant,,ENST00000494364,;SCG5,upstream_gene_variant,,ENST00000300175,;ARHGAP11A,downstream_gene_variant,,ENST00000563864,;SCG5,upstream_gene_variant,,ENST00000413748,;ARHGAP11A,downstream_gene_variant,,ENST00000562481,;ARHGAP11A,downstream_gene_variant,,ENST00000564918,;	2676	148	195	SUCCESS
AQR	9716	.	GRCh37	15	35198872	35198872	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	11	104	0	ENST00000156471.5:c.1705C>A	p.Pro569Thr	p.P569T	ENST00000156471	NM_014691.2	569	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS42013.1	1705	MUTECT|MUSE|VARSCANS	.	TGTGGGACGTA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901	.	.	ENSP00000156471	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,missense_variant,p.Pro569Thr,ENST00000156471,;AQR,missense_variant,p.Pro569Thr,ENST00000543879,;	1931	104	130	SUCCESS
BAHD1	22893	.	GRCh37	15	40757537	40757537	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	12	124	0	ENST00000416165.1:c.2056T>A	p.Leu686Met	p.L686M	ENST00000416165	NM_014952.3	686	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS10058.1	2056	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTTGCAG	NONE	.	.	PROSITE_profiles:PS51038,hmmpanther:PTHR12505,Pfam_domain:PF01426,SMART_domains:SM00439	.	.	ENSP00000396976	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000416165	Transcript	.	.	ENSG00000140320	29153	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	tolerated(0.14)	.	BAHD1_HUMAN	BAHD1	HGNC	.	.	UPI000013D778	SNV	BAHD1,missense_variant,p.Leu686Met,ENST00000416165,;BAHD1,missense_variant,p.Leu685Met,ENST00000561234,;BAHD1,splice_region_variant,,ENST00000560846,;RP11-64K12.8,non_coding_transcript_exon_variant,,ENST00000559730,;BAHD1,non_coding_transcript_exon_variant,,ENST00000561464,;	2127	124	111	SUCCESS
MGA	23269	.	GRCh37	15	42028515	42028522	+	frameshift_variant	Frame_Shift_Del	DEL	TTTGAGCA	TTTGAGCA	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	TTTGAGCA	TTTGAGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	159	0	ENST00000219905.7:c.4054_4061del	p.Ser1353IlefsTer6	p.S1353Ifs*6	ENST00000219905	NM_001164273.1	1351	atTTTGAGCAtc/attc	0	.	.	.	.	.	-	ILSI/IX	protein_coding	YES	CCDS55959.1	4053-4060	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGATTTTGAGCATCTTA	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	deletion	MGA,frameshift_variant,p.Ser62IlefsTer6,ENST00000564190,;MGA,frameshift_variant,p.Ser1353IlefsTer6,ENST00000219905,;MGA,frameshift_variant,p.Ser1353IlefsTer6,ENST00000570161,;MGA,frameshift_variant,p.Ser1353IlefsTer6,ENST00000545763,;MGA,frameshift_variant,p.Ser1353IlefsTer6,ENST00000389936,;MGA,frameshift_variant,p.Ser1353IlefsTer6,ENST00000566586,;	4234-4241	159	133	SUCCESS
TGM7	116179	.	GRCh37	15	43571883	43571883	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774865695	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	53	0	ENST00000452443.2:c.1618G>A	p.Gly540Ser	p.G540S	ENST00000452443	NM_052955.2	540	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32213.1	1618	RADIA|MUTECT|MUSE|VARSCANS	.	ACCACCCCCAT	NONE	byFrequency	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000389466	.	10/13	.	.	.	.	.	.	.	.	rs774865695	10/13	PASS	ENST00000452443	Transcript	.	.	ENSG00000159495	30790	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.521)	.	tolerated(0.23)	.	TGM7_HUMAN	TGM7	HGNC	.	.	UPI0000049F68	SNV	TGM7,missense_variant,p.Gly540Ser,ENST00000452443,;TGM7,upstream_gene_variant,,ENST00000562372,;	1623	53	91	SUCCESS
TP53BP1	7158	.	GRCh37	15	43749109	43749109	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	6	142	0	ENST00000382044.4:c.1697C>G	p.Pro566Arg	p.P566R	ENST00000382044	NM_001141980.1	566	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS45250.1	1697	MUTECT|MUSE	.	CAGCAGGAACA	NONE	.	.	hmmpanther:PTHR15321	.	.	ENSP00000371475	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000382044	Transcript	.	.	ENSG00000067369	11999	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.4)	.	TP53B_HUMAN	TP53BP1	HGNC	B3KVT9_HUMAN	.	UPI0000D720ED	SNV	TP53BP1,missense_variant,p.Pro561Arg,ENST00000263801,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000413546,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000382039,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000450115,;TP53BP1,missense_variant,p.Pro566Arg,ENST00000382044,;TP53BP1,upstream_gene_variant,,ENST00000605155,;TP53BP1,upstream_gene_variant,,ENST00000414758,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000480860,;TP53BP1,upstream_gene_variant,,ENST00000411772,;	1825	142	146	SUCCESS
DUOXA2	405753	.	GRCh37	15	45408389	45408389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	11	57	0	ENST00000323030.5:c.273C>A	p.Ser91Arg	p.S91R	ENST00000323030	NM_207581.3	91	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS10118.2	273	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCGCAGC	NONE	.	.	Pfam_domain:PF10204,hmmpanther:PTHR31158:SF2,hmmpanther:PTHR31158	.	.	ENSP00000319705	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000323030	Transcript	1	.	ENSG00000140274	32698	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DOXA2_HUMAN	DUOXA2	HGNC	.	.	UPI000049DDDD	SNV	DUOXA2,missense_variant,p.Ser91Arg,ENST00000323030,;DUOXA1,downstream_gene_variant,,ENST00000267803,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000560572,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOXA1,downstream_gene_variant,,ENST00000558422,;DUOXA1,downstream_gene_variant,,ENST00000559014,;DUOX2,upstream_gene_variant,,ENST00000603300,;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA1,downstream_gene_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558996,;DUOXA2,3_prime_UTR_variant,,ENST00000491993,;DUOXA2,non_coding_transcript_exon_variant,,ENST00000350243,;DUOX2,upstream_gene_variant,,ENST00000558383,;DUOXA1,downstream_gene_variant,,ENST00000559013,;	558	57	97	SUCCESS
BLOC1S6	26258	.	GRCh37	15	45884374	45884374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	7	88	0	ENST00000220531.3:c.124T>A	p.Leu42Met	p.L42M	ENST00000220531	NM_012388.2	42	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS10126.1	124	MUTECT|MUSE	.	AGGACTTGACT	NONE	.	.	PIRSF_domain:PIRSF037609,hmmpanther:PTHR31328	.	.	ENSP00000220531	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000220531	Transcript	1	.	ENSG00000104164	8549	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.632)	.	tolerated(0.16)	.	BL1S6_HUMAN	BLOC1S6	HGNC	H3BRA4_HUMAN,H3BN73_HUMAN	.	UPI000004A0B2	SNV	BLOC1S6,missense_variant,p.Leu47Met,ENST00000565323,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000220531,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000566753,;BLOC1S6,5_prime_UTR_variant,,ENST00000564765,;BLOC1S6,5_prime_UTR_variant,,ENST00000568816,;BLOC1S6,5_prime_UTR_variant,,ENST00000565409,;BLOC1S6,intron_variant,,ENST00000566801,;BLOC1S6,intron_variant,,ENST00000562384,;BLOC1S6,intron_variant,,ENST00000565216,;RP11-96O20.4,intron_variant,,ENST00000564080,;BLOC1S6,intron_variant,,ENST00000567461,;BLOC1S6,intron_variant,,ENST00000569076,;Y_RNA,downstream_gene_variant,,ENST00000363549,;BLOC1S6,non_coding_transcript_exon_variant,,ENST00000563160,;BLOC1S6,intron_variant,,ENST00000565727,;BLOC1S6,intron_variant,,ENST00000567740,;BLOC1S6,intron_variant,,ENST00000563000,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000567523,;BLOC1S6,missense_variant,p.Leu19Met,ENST00000564310,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000568597,;BLOC1S6,intron_variant,,ENST00000566184,;BLOC1S6,intron_variant,,ENST00000568963,;	445	88	118	SUCCESS
SEMA6D	80031	.	GRCh37	15	48063289	48063289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	9	147	0	ENST00000316364.5:c.2529C>A	p.Asn843Lys	p.N843K	ENST00000316364	NM_153618.1	843	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS32225.1	2529	MUTECT|MUSE	.	TCAAACTCCAA	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.146)	.	tolerated(0.05)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Asn800Lys,ENST00000389432,;SEMA6D,missense_variant,p.Asn781Lys,ENST00000537942,;SEMA6D,missense_variant,p.Asn781Lys,ENST00000358066,;SEMA6D,missense_variant,p.Asn787Lys,ENST00000354744,;SEMA6D,missense_variant,p.Asn768Lys,ENST00000389428,;SEMA6D,missense_variant,p.Asn843Lys,ENST00000536845,;SEMA6D,missense_variant,p.Asn824Lys,ENST00000389433,;SEMA6D,missense_variant,p.Asn781Lys,ENST00000558014,;SEMA6D,missense_variant,p.Asn843Lys,ENST00000316364,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	2968	147	194	SUCCESS
SHC4	399694	.	GRCh37	15	49148299	49148299	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	9	138	0	ENST00000332408.4:c.1093C>T	p.His365Tyr	p.H365Y	ENST00000332408	NM_203349.3	365	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS10130.1	1093	MUTECT|MUSE	.	GGCATGGCTAT	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12	.	.	ENSP00000329668	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.055)	.	deleterious(0.04)	.	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,missense_variant,p.His365Tyr,ENST00000332408,;SHC4,missense_variant,p.His79Tyr,ENST00000537958,;SHC4,missense_variant,p.His79Tyr,ENST00000558220,;SHC4,missense_variant,p.His122Tyr,ENST00000396535,;SHC4,missense_variant,p.His79Tyr,ENST00000557797,;	1522	138	150	SUCCESS
DMXL2	23312	.	GRCh37	15	51791589	51791589	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	14	125	0	ENST00000251076.5:c.3832G>C	p.Val1278Leu	p.V1278L	ENST00000251076	NM_015263.3	1278	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS53946.1	3832	MUTECT|MUSE	.	TTTGACAGCAT	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.63)	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,missense_variant,p.Val1278Leu,ENST00000543779,;DMXL2,missense_variant,p.Val1278Leu,ENST00000251076,;DMXL2,intron_variant,,ENST00000449909,;RP11-707P17.1,downstream_gene_variant,,ENST00000561007,;	3922	125	158	SUCCESS
LEO1	123169	.	GRCh37	15	52251010	52251010	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	260	14	206	1	ENST00000299601.5:c.1174C>A	p.Gln392Lys	p.Q392K	ENST00000299601	NM_138792.2	392	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS10146.1	1174	MUTECT|MUSE	.	ATACTGAGGAT	NONE	.	.	hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146,Pfam_domain:PF04004	.	.	ENSP00000299601	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.142)	.	tolerated(0.18)	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,missense_variant,p.Gln392Lys,ENST00000299601,;LEO1,intron_variant,,ENST00000315141,;MAPK6,intron_variant,,ENST00000560802,;LEO1,upstream_gene_variant,,ENST00000558949,;	1235	208	274	SUCCESS
LEO1	123169	.	GRCh37	15	52258056	52258056	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	411	31	446	0	ENST00000299601.5:c.704C>G	p.Pro235Arg	p.P235R	ENST00000299601	NM_138792.2	235	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS10146.1	704	MUTECT|MUSE	.	GCTGTGGTTGT	NONE	.	.	hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146	.	.	ENSP00000299601	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.074)	.	tolerated_low_confidence(0.32)	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,missense_variant,p.Pro235Arg,ENST00000315141,;LEO1,missense_variant,p.Pro235Arg,ENST00000299601,;MAPK6,intron_variant,,ENST00000560802,;	765	446	442	SUCCESS
GNB5	10681	.	GRCh37	15	52476791	52476791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	8	102	0	ENST00000261837.7:c.83A>T	p.Lys28Met	p.K28M	ENST00000261837	NM_016194.3	28	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS10149.1	83	MUTECT|MUSE|VARSCANS	.	ACTTCTTGAAA	NONE	.	.	hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12	.	.	ENSP00000261837	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000261837	Transcript	.	.	ENSG00000069966	4401	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.09)	.	GBB5_HUMAN	GNB5	HGNC	H0YLU1_HUMAN	.	UPI000006E214	SNV	GNB5,missense_variant,p.Lys28Met,ENST00000261837,;GNB5,upstream_gene_variant,,ENST00000358784,;GNB5,upstream_gene_variant,,ENST00000560116,;GNB5,upstream_gene_variant,,ENST00000396335,;RP11-430B1.2,intron_variant,,ENST00000559779,;RP11-430B1.2,intron_variant,,ENST00000560518,;GNB5,non_coding_transcript_exon_variant,,ENST00000560075,;GNB5,upstream_gene_variant,,ENST00000561313,;	149	102	96	SUCCESS
UNC13C	440279	.	GRCh37	15	54592572	54592572	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	108	0	ENST00000260323.11:c.4268+1G>A		p.X1423_splice	ENST00000260323	NM_001080534.1	1423		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45264.1	.	MUTECT|MUSE	.	ATGACGTAAGT	NONE	.	.	.	.	.	ENSP00000260323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	HIGH	12/31	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,splice_donor_variant,,ENST00000537900,;UNC13C,splice_donor_variant,,ENST00000545554,;UNC13C,splice_donor_variant,,ENST00000260323,;UNC13C,splice_donor_variant,,ENST00000561210,;	.	108	97	SUCCESS
STOML1	9399	.	GRCh37	15	74277722	74277722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	13	67	0	ENST00000541638.1:c.601G>T	p.Ala201Ser	p.A201S	ENST00000541638		201	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10254.1	727	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCAGCT	NONE	.	.	hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF70	.	.	ENSP00000319323	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000316900	Transcript	.	.	ENSG00000067221	14560	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.493)	.	deleterious(0.02)	.	STML1_HUMAN	STOML1	HGNC	H3BVF2_HUMAN	.	UPI00000377B6	SNV	STOML1,missense_variant,p.Ala243Ser,ENST00000359750,;STOML1,missense_variant,p.Ala193Ser,ENST00000316911,;STOML1,missense_variant,p.Ala193Ser,ENST00000564777,;STOML1,missense_variant,p.Ala243Ser,ENST00000316900,;STOML1,missense_variant,p.Ala201Ser,ENST00000541638,;STOML1,missense_variant,p.Ala156Ser,ENST00000561656,;STOML1,downstream_gene_variant,,ENST00000566081,;STOML1,downstream_gene_variant,,ENST00000565240,;STOML1,downstream_gene_variant,,ENST00000562453,;STOML1,non_coding_transcript_exon_variant,,ENST00000561480,;STOML1,downstream_gene_variant,,ENST00000567052,;STOML1,downstream_gene_variant,,ENST00000567876,;STOML1,downstream_gene_variant,,ENST00000563229,;	852	67	90	SUCCESS
RCN2	5955	.	GRCh37	15	77227917	77227917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	13	96	0	ENST00000394885.3:c.301G>A	p.Glu101Lys	p.E101K	ENST00000394885	NM_002902.2	101	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10291.1	301	MUTECT|MUSE	.	TGCAAGAAGCA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF32,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000378349	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000394885	Transcript	.	.	ENSG00000117906	9935	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.887)	.	deleterious(0.03)	.	RCN2_HUMAN	RCN2	HGNC	.	.	UPI0000000C65	SNV	RCN2,missense_variant,p.Glu101Lys,ENST00000320963,;RCN2,missense_variant,p.Glu101Lys,ENST00000394885,;RCN2,intron_variant,,ENST00000394883,;RCN2,missense_variant,p.Glu92Lys,ENST00000557805,;	524	96	165	SUCCESS
RCN2	5955	.	GRCh37	15	77241537	77241537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	3	60	0	ENST00000394885.3:c.928G>T	p.Asp310Tyr	p.D310Y	ENST00000394885	NM_002902.2	310	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS10291.1	928	MUTECT|MUSE	.	ATGATGACTAT	NONE	.	.	hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF32,Gene3D:1.10.238.10	.	.	ENSP00000378349	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000394885	Transcript	.	.	ENSG00000117906	9935	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.305)	.	deleterious(0)	.	RCN2_HUMAN	RCN2	HGNC	.	.	UPI0000000C65	SNV	RCN2,missense_variant,p.Asp328Tyr,ENST00000320963,;RCN2,missense_variant,p.Asp310Tyr,ENST00000394885,;RCN2,missense_variant,p.Asp209Tyr,ENST00000394883,;RCN2,downstream_gene_variant,,ENST00000557805,;RCN2,downstream_gene_variant,,ENST00000558598,;RCN2,downstream_gene_variant,,ENST00000560833,;	1151	61	68	SUCCESS
PEAK1	79834	.	GRCh37	15	77425574	77425574	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	27	212	1	ENST00000312493.4:c.3850G>T	p.Glu1284Ter	p.E1284*	ENST00000312493	NM_024776.3	1284	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42062.1	3850	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCCGAT	NONE	.	.	hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5	.	.	ENSP00000452796	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,stop_gained,p.Glu1284Ter,ENST00000560626,;PEAK1,stop_gained,p.Glu1284Ter,ENST00000312493,;	4326	213	287	SUCCESS
LINGO1	84894	.	GRCh37	15	77906599	77906599	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	116	1	ENST00000355300.6:c.1650C>A	p.Phe550Leu	p.F550L	ENST00000355300	NM_032808.5	550	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS45313.1	1650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGAAAGG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31	.	.	ENSP00000347451	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355300	Transcript	.	.	ENSG00000169783	21205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.17)	.	LIGO1_HUMAN	LINGO1	HGNC	H3BQ49_HUMAN,H3BN48_HUMAN,H3BMW2_HUMAN,H3BMN3_HUMAN,H3BM59_HUMAN,H0YNK7_HUMAN	.	UPI00000377A0	SNV	LINGO1,missense_variant,p.Phe550Leu,ENST00000355300,;LINGO1,missense_variant,p.Phe544Leu,ENST00000561030,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000564472,;	1825	117	73	SUCCESS
ARNT2	9915	.	GRCh37	15	80767490	80767490	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	28	113	0	ENST00000303329.4:c.548T>G	p.Leu183Arg	p.L183R	ENST00000303329	NM_014862.3	183	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS32307.1	548	RADIA|MUTECT|MUSE|VARSCANS	.	CACACTGTATG	NONE	.	.	Superfamily_domains:SSF55785,SMART_domains:SM00091,Gene3D:3.30.450.20,Pfam_domain:PF00989,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6,PROSITE_profiles:PS50112	.	.	ENSP00000307479	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000303329	Transcript	1	.	ENSG00000172379	16876	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	ARNT2_HUMAN	ARNT2	HGNC	H0YKW1_HUMAN	.	UPI00001FEA05	SNV	ARNT2,missense_variant,p.Leu183Arg,ENST00000303329,;ARNT2,missense_variant,p.Leu172Arg,ENST00000533983,;ARNT2,missense_variant,p.Leu172Arg,ENST00000527771,;ARNT2,intron_variant,,ENST00000525103,;ARNT2,non_coding_transcript_exon_variant,,ENST00000531595,;ARNT2,non_coding_transcript_exon_variant,,ENST00000529181,;	713	113	148	SUCCESS
IL16	3603	.	GRCh37	15	81589305	81589305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	29	77	0	ENST00000302987.4:c.1939G>A	p.Glu647Lys	p.E647K	ENST00000302987		647	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS42069.1	1939	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGAAGAC	NONE	.	.	hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2	.	.	ENSP00000302935	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000302987	Transcript	.	.	ENSG00000172349	5980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.29)	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,missense_variant,p.Glu647Lys,ENST00000394660,;IL16,missense_variant,p.Glu601Lys,ENST00000559388,;IL16,missense_variant,p.Glu647Lys,ENST00000302987,;IL16,5_prime_UTR_variant,,ENST00000394652,;IL16,upstream_gene_variant,,ENST00000558332,;IL16,downstream_gene_variant,,ENST00000559383,;IL16,upstream_gene_variant,,ENST00000560230,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,upstream_gene_variant,,ENST00000558857,;IL16,downstream_gene_variant,,ENST00000560241,;	1939	77	175	SUCCESS
STARD5	80765	.	GRCh37	15	81615246	81615246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	12	113	0	ENST00000302824.6:c.143G>T	p.Gly48Val	p.G48V	ENST00000302824	NM_181900.2	48	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10318.1	143	MUTECT|MUSE|VARSCANS	.	GGTTCCCTGGA	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF44,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000304032	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000302824	Transcript	.	.	ENSG00000172345	18065	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STAR5_HUMAN	STARD5	HGNC	.	.	UPI0000136136	SNV	STARD5,missense_variant,p.Gly48Val,ENST00000302824,;RP11-761I4.3,upstream_gene_variant,,ENST00000559781,;RP11-761I4.3,upstream_gene_variant,,ENST00000560973,;STARD5,non_coding_transcript_exon_variant,,ENST00000559913,;STARD5,non_coding_transcript_exon_variant,,ENST00000560723,;STARD5,intron_variant,,ENST00000560156,;STARD5,intron_variant,,ENST00000325346,;	169	113	135	SUCCESS
DET1	55070	.	GRCh37	15	89074867	89074867	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367738496	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	11	68	0	ENST00000268148.8:c.70C>T	p.Arg24Cys	p.R24C	ENST00000268148	NM_001144074.1	24	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS45343.1	103	RADIA|MUTECT|VARSCANS	.	CCGGCGTTCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13374	.	A:0.0001	ENSP00000456340	.	3/6	.	.	.	.	.	.	.	.	rs367738496	3/6	PASS	ENST00000564406	Transcript	.	.	ENSG00000140543	25477	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.394)	.	tolerated(0.08)	.	DET1_HUMAN	DET1	HGNC	.	.	UPI00001A8183	SNV	DET1,missense_variant,p.Arg35Cys,ENST00000564406,;DET1,missense_variant,p.Arg35Cys,ENST00000444300,;DET1,missense_variant,p.Arg24Cys,ENST00000268148,;DET1,missense_variant,p.Arg24Cys,ENST00000558413,;DET1,downstream_gene_variant,,ENST00000559656,;DET1,missense_variant,p.Arg24Cys,ENST00000557842,;DET1,missense_variant,p.Arg24Cys,ENST00000557837,;	264	68	97	SUCCESS
RHCG	51458	.	GRCh37	15	90023512	90023512	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs749575034	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	100	0	ENST00000268122.4:c.650C>A	p.Ser217Ter	p.S217*	ENST00000268122	NM_016321.1	217	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS10351.1	650	MUTECT|MUSE|VARSCANS	.	GGTCCGACTGG	NONE	byFrequency	.	Superfamily_domains:0044218,Pfam_domain:PF00909,Gene3D:1.10.3430.10,hmmpanther:PTHR11883:SF12,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix	.	.	ENSP00000268122	.	4/11	.	.	.	.	.	.	.	.	rs749575034	4/11	PASS	ENST00000268122	Transcript	.	.	ENSG00000140519	18140	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHCG_HUMAN	RHCG	HGNC	.	.	UPI00000343FD	SNV	RHCG,stop_gained,p.Ser217Ter,ENST00000268122,;RHCG,stop_gained,p.Ser217Ter,ENST00000544600,;RHCG,upstream_gene_variant,,ENST00000558360,;RHCG,stop_gained,p.Ser217Ter,ENST00000560081,;RHCG,3_prime_UTR_variant,,ENST00000558184,;RHCG,intron_variant,,ENST00000558030,;RHCG,upstream_gene_variant,,ENST00000559638,;	719	100	76	SUCCESS
TTLL13	0	.	GRCh37	15	90799374	90799374	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	43	0	ENST00000339615.5:c.550T>A	p.Tyr184Asn	p.Y184N	ENST00000339615	NM_001029964.2	184	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	.	550	MUTECT|VARSCANS	.	ATAGCTATGGG	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF91,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000345294	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000339615	Transcript	.	.	ENSG00000213471	32484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.059)	.	deleterious(0.03)	.	TTL13_HUMAN	TTLL13	HGNC	.	.	UPI00005B2F05	SNV	TTLL13,missense_variant,p.Tyr184Asn,ENST00000339615,;TTLL13,missense_variant,p.Tyr184Asn,ENST00000438251,;RP11-697E2.6,intron_variant,,ENST00000561573,;	840	43	96	SUCCESS
MCTP2	55784	.	GRCh37	15	94901825	94901825	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	15	102	0	ENST00000357742.4:c.1285G>C	p.Glu429Gln	p.E429Q	ENST00000357742	NM_018349.3	429	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS32338.1	1285	RADIA|MUTECT|VARSCANS	.	AGCATGAGGAA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000350377	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.158)	.	deleterious(0.02)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Glu17Gln,ENST00000557742,;MCTP2,missense_variant,p.Glu17Gln,ENST00000331706,;MCTP2,missense_variant,p.Glu429Gln,ENST00000357742,;MCTP2,missense_variant,p.Glu429Gln,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000543482,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;	1285	102	113	SUCCESS
FAM169B	283777	.	GRCh37	15	99023985	99023985	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	98	0	ENST00000558256.1:c.28G>C	p.Val10Leu	p.V10L	ENST00000558256	NM_182562.2	10	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS45360.1	28	MUTECT|MUSE	.	CACAACCCTTT	NONE	.	.	hmmpanther:PTHR22442:SF4,hmmpanther:PTHR22442	.	.	ENSP00000453554	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000558256	Transcript	.	.	ENSG00000185087	26835	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	deleterious(0.01)	.	F169B_HUMAN	FAM169B	HGNC	.	.	UPI0000199E5A	SNV	FAM169B,missense_variant,p.Val10Leu,ENST00000332908,;FAM169B,missense_variant,p.Val10Leu,ENST00000558256,;	278	98	105	SUCCESS
RSL1D1	26156	.	GRCh37	16	11944139	11944139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	79	0	ENST00000571133.1:c.242G>T	p.Arg81Ile	p.R81I	ENST00000571133	NM_015659.2	81	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS10551.1	242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATCTGACC	NONE	.	.	hmmpanther:PTHR23105,hmmpanther:PTHR23105:SF5,Pfam_domain:PF00687,Superfamily_domains:SSF56808	.	.	ENSP00000460871	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000571133	Transcript	.	.	ENSG00000171490	24534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	RL1D1_HUMAN	RSL1D1	HGNC	I3L234_HUMAN,B4DJ58_HUMAN	.	UPI000007374D	SNV	RSL1D1,missense_variant,p.Arg81Ile,ENST00000573251,;RSL1D1,missense_variant,p.Arg15Ile,ENST00000573791,;RSL1D1,missense_variant,p.Arg47Ile,ENST00000571988,;RSL1D1,missense_variant,p.Arg81Ile,ENST00000355674,;RSL1D1,missense_variant,p.Arg81Ile,ENST00000571133,;RSL1D1,intron_variant,,ENST00000542106,;RP11-166B2.8,upstream_gene_variant,,ENST00000574364,;RSL1D1,missense_variant,p.Arg80Ile,ENST00000572090,;RSL1D1,3_prime_UTR_variant,,ENST00000570767,;RSL1D1,non_coding_transcript_exon_variant,,ENST00000574287,;RSL1D1,intron_variant,,ENST00000573618,;RSL1D1,intron_variant,,ENST00000396503,;RSL1D1,intron_variant,,ENST00000573029,;RSL1D1,upstream_gene_variant,,ENST00000574823,;	315	79	58	SUCCESS
MAPK8IP3	23162	.	GRCh37	16	1816311	1816311	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	47	0	ENST00000250894.4:c.2717C>G	p.Pro906Arg	p.P906R	ENST00000250894	NM_015133.3	906	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS10442.2	2717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCCAGCG	NONE	.	.	hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3	.	.	ENSP00000250894	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000250894	Transcript	.	.	ENSG00000138834	6884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.11)	.	JIP3_HUMAN	MAPK8IP3	HGNC	.	.	UPI000034ECA7	SNV	MAPK8IP3,missense_variant,p.Pro900Arg,ENST00000356010,;MAPK8IP3,missense_variant,p.Pro906Arg,ENST00000250894,;NME3,downstream_gene_variant,,ENST00000564628,;NME3,downstream_gene_variant,,ENST00000219302,;NME3,downstream_gene_variant,,ENST00000563498,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000567352,;NME3,downstream_gene_variant,,ENST00000563854,;MAPK8IP3,upstream_gene_variant,,ENST00000566064,;NME3,downstream_gene_variant,,ENST00000564252,;MAPK8IP3,downstream_gene_variant,,ENST00000570131,;NME3,downstream_gene_variant,,ENST00000565379,;NME3,downstream_gene_variant,,ENST00000567271,;NME3,downstream_gene_variant,,ENST00000568561,;MAPK8IP3,upstream_gene_variant,,ENST00000563868,;NME3,downstream_gene_variant,,ENST00000566600,;MAPK8IP3,downstream_gene_variant,,ENST00000566589,;MAPK8IP3,downstream_gene_variant,,ENST00000561949,;MAPK8IP3,upstream_gene_variant,,ENST00000562042,;NME3,downstream_gene_variant,,ENST00000561637,;NME3,downstream_gene_variant,,ENST00000563367,;MAPK8IP3,upstream_gene_variant,,ENST00000564868,;	2874	47	76	SUCCESS
TMC7	79905	.	GRCh37	16	19049310	19049310	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	36	252	0	ENST00000304381.5:c.1120G>T	p.Gly374Trp	p.G374W	ENST00000304381	NM_024847.3	374	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS10573.1	1120	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGGGGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF9	.	.	ENSP00000304710	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000304381	Transcript	.	.	ENSG00000170537	23000	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.541)	.	deleterious(0.01)	.	TMC7_HUMAN	TMC7	HGNC	E7ERB6_HUMAN	.	UPI00001AEDAD	SNV	TMC7,missense_variant,p.Gly374Trp,ENST00000569532,;TMC7,missense_variant,p.Gly264Trp,ENST00000421369,;TMC7,missense_variant,p.Gly374Trp,ENST00000304381,;TMC7,non_coding_transcript_exon_variant,,ENST00000561963,;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	1250	252	250	SUCCESS
TSC2	7249	.	GRCh37	16	2098719	2098719	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs137854105	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	9	169	0	ENST00000219476.3:c.103C>T	p.Gln35Ter	p.Q35*	ENST00000219476	NM_000548.3	35	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10458.1	103	MUTECT|MUSE	not_provided	GTAAACAGACG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	.	.	ENSP00000219476	.	2/42	.	.	.	.	.	.	.	.	rs137854105	2/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Gln35Ter,ENST00000439673,;TSC2,stop_gained,p.Gln35Ter,ENST00000219476,;TSC2,stop_gained,p.Gln46Ter,ENST00000568454,;TSC2,stop_gained,p.Gln35Ter,ENST00000401874,;TSC2,stop_gained,p.Gln35Ter,ENST00000353929,;TSC2,stop_gained,p.Gln35Ter,ENST00000350773,;TSC2,intron_variant,,ENST00000382538,;NTHL1,upstream_gene_variant,,ENST00000566380,;NTHL1,upstream_gene_variant,,ENST00000219066,;TSC2,upstream_gene_variant,,ENST00000432909,;NTHL1,upstream_gene_variant,,ENST00000562951,;TSC2,stop_gained,p.Gln35Ter,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000461648,;NTHL1,upstream_gene_variant,,ENST00000562120,;NTHL1,upstream_gene_variant,,ENST00000568513,;NTHL1,upstream_gene_variant,,ENST00000561841,;NTHL1,upstream_gene_variant,,ENST00000565406,;NTHL1,upstream_gene_variant,,ENST00000567727,;	733	169	171	SUCCESS
GGA2	23062	.	GRCh37	16	23489767	23489767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	14	82	0	ENST00000309859.4:c.1214C>T	p.Pro405Leu	p.P405L	ENST00000309859	NM_015044.4	405	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10611.1	1214	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTGGCAGC	NONE	.	.	hmmpanther:PTHR13856:SF74,hmmpanther:PTHR13856	.	.	ENSP00000311962	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000309859	Transcript	.	.	ENSG00000103365	16064	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.13)	.	GGA2_HUMAN	GGA2	HGNC	H3BMN6_HUMAN	.	UPI000013EF46	SNV	GGA2,missense_variant,p.Pro405Leu,ENST00000309859,;GGA2,intron_variant,,ENST00000567468,;GGA2,non_coding_transcript_exon_variant,,ENST00000569182,;	1297	82	134	SUCCESS
IL21R	50615	.	GRCh37	16	27448870	27448870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	38	0	ENST00000337929.3:c.214C>A	p.His72Asn	p.H72N	ENST00000337929	NM_181078.2	72	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS10630.1	214	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCACAAT	NONE	.	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	.	.	ENSP00000338010	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337929	Transcript	.	.	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.259)	.	deleterious(0.01)	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.His72Asn,ENST00000395755,;IL21R,missense_variant,p.His72Asn,ENST00000564089,;IL21R,missense_variant,p.His72Asn,ENST00000395754,;IL21R,missense_variant,p.His72Asn,ENST00000337929,;	687	38	72	SUCCESS
GTF3C1	2975	.	GRCh37	16	27517278	27517278	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs140459536	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	17	112	1	ENST00000356183.4:c.1712C>A	p.Ala571Glu	p.A571E	ENST00000356183	NM_001520.3	571	gCg/gAg	0	A:0.0002	.	.	.	.	T	A/E	protein_coding	YES	CCDS32414.1	1712	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGCACAG	NONE	byCluster	.	hmmpanther:PTHR15180	.	A:0.0001	ENSP00000348510	.	10/37	.	.	.	.	.	.	.	.	rs140459536	10/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(1)	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,missense_variant,p.Ala571Glu,ENST00000561623,;GTF3C1,missense_variant,p.Ala571Glu,ENST00000356183,;GTF3C1,upstream_gene_variant,,ENST00000569653,;	1728	113	134	SUCCESS
CD19	930	.	GRCh37	16	28946809	28946809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	257	19	342	0	ENST00000324662.3:c.880G>A	p.Ala294Thr	p.A294T	ENST00000324662		294	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS53998.1	880	MUTECT|MUSE	.	TCTCAGCTGTG	NONE	.	.	hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1	.	.	ENSP00000437940	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000538922	Transcript	.	.	ENSG00000177455	1633	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.908)	.	tolerated(0.08)	.	CD19_HUMAN	CD19	HGNC	Q71UW0_HUMAN	.	UPI0000E02929	SNV	CD19,missense_variant,p.Ala294Thr,ENST00000538922,;CD19,missense_variant,p.Ala294Thr,ENST00000324662,;CD19,missense_variant,p.Ala294Thr,ENST00000567541,;RABEP2,intron_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,downstream_gene_variant,,ENST00000566890,;CD19,upstream_gene_variant,,ENST00000567368,;	942	342	277	SUCCESS
SETD1A	9739	.	GRCh37	16	30977205	30977205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	24	171	0	ENST00000262519.8:c.2003G>T	p.Arg668Leu	p.R668L	ENST00000262519	NM_014712.1	668	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS32435.1	2003	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGACTTG	NONE	.	.	hmmpanther:PTHR22884:SF295,hmmpanther:PTHR22884	.	.	ENSP00000262519	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000262519	Transcript	.	.	ENSG00000099381	29010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	.	.	SET1A_HUMAN	SETD1A	HGNC	C9J2Z9_HUMAN	.	UPI00001C1FA9	SNV	SETD1A,missense_variant,p.Arg668Leu,ENST00000262519,;SETD1A,downstream_gene_variant,,ENST00000452917,;	2689	171	172	SUCCESS
ZNF668	79759	.	GRCh37	16	31072640	31072640	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	59	0	ENST00000394983.2:c.1609T>A	p.Ser537Thr	p.S537T	ENST00000394983		537	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54003.1	1678	MUTECT|MUSE|VARSCANS	.	GTGTGAGCGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF15,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000442573	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000539836	Transcript	.	.	ENSG00000167394	25821	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.68)	.	.	ZNF668	HGNC	C9JHH8_HUMAN,C9JG35_HUMAN,C9JCJ0_HUMAN	.	UPI00001FFF53	SNV	ZNF668,missense_variant,p.Ser560Thr,ENST00000426488,;ZNF668,missense_variant,p.Ser537Thr,ENST00000300849,;ZNF668,missense_variant,p.Ser537Thr,ENST00000538906,;ZNF668,missense_variant,p.Ser560Thr,ENST00000539836,;ZNF668,missense_variant,p.Ser537Thr,ENST00000535577,;ZNF668,missense_variant,p.Ser537Thr,ENST00000394983,;ZNF668,downstream_gene_variant,,ENST00000417935,;ZNF668,downstream_gene_variant,,ENST00000414399,;ZNF668,downstream_gene_variant,,ENST00000442862,;ZNF668,upstream_gene_variant,,ENST00000417110,;AC135050.5,upstream_gene_variant,,ENST00000568708,;ZNF668,downstream_gene_variant,,ENST00000564456,;	2001	59	98	SUCCESS
DNAJA2	10294	.	GRCh37	16	46991020	46991020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	11	136	0	ENST00000317089.5:c.1160G>T	p.Arg387Met	p.R387M	ENST00000317089	NM_005880.3	387	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS10726.1	1160	MUTECT|MUSE	.	CACGCCTCTGA	NONE	.	.	HAMAP:MF_01152,hmmpanther:PTHR24076:SF1,hmmpanther:PTHR24076	.	.	ENSP00000314030	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000317089	Transcript	.	.	ENSG00000069345	14884	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0.01)	.	DNJA2_HUMAN	DNAJA2	HGNC	H3BMW5_HUMAN	.	UPI0000052A4E	SNV	DNAJA2,missense_variant,p.Arg387Met,ENST00000317089,;DNAJA2,3_prime_UTR_variant,,ENST00000563158,;DNAJA2,downstream_gene_variant,,ENST00000569553,;	1376	136	152	SUCCESS
CHD9	80205	.	GRCh37	16	53358701	53358701	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	54	176	0	ENST00000398510.3:c.8588T>G	p.Leu2863Arg	p.L2863R	ENST00000398510		2863	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS45485.1	8540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTCAATG	NONE	.	.	.	.	.	ENSP00000457466	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Leu2847Arg,ENST00000566029,;CHD9,missense_variant,p.Leu2848Arg,ENST00000447540,;CHD9,missense_variant,p.Leu2847Arg,ENST00000564845,;CHD9,missense_variant,p.Leu2863Arg,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,downstream_gene_variant,,ENST00000564641,;CHD9,downstream_gene_variant,,ENST00000564600,;	8749	176	176	SUCCESS
FTO	79068	.	GRCh37	16	53878098	53878098	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs886052103	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	8	219	0	ENST00000471389.1:c.783T>A	p.His261Gln	p.H261Q	ENST00000471389	NM_001080432.2	261	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS32448.1	783	MUTECT|MUSE	.	TCTCATCTCGA	NONE	.	.	hmmpanther:PTHR31291,hmmpanther:PTHR31291:SF2,Pfam_domain:PF12933	.	.	ENSP00000418823	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000471389	Transcript	.	.	ENSG00000140718	24678	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.65)	.	FTO_HUMAN	FTO	HGNC	B4DHN4_HUMAN	.	UPI000013D7B3	SNV	FTO,missense_variant,p.His261Gln,ENST00000471389,;FTO,5_prime_UTR_variant,,ENST00000394647,;FTO,missense_variant,p.Ile52Asn,ENST00000464071,;	1005	219	231	SUCCESS
SLC38A7	55238	.	GRCh37	16	58706093	58706093	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	22	87	0	ENST00000219320.4:c.938C>A	p.Ser313Tyr	p.S313Y	ENST00000219320	NM_018231.1	313	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS10800.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	GATAGGACAGG	NONE	.	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF192,Pfam_domain:PF01490	.	.	ENSP00000454646	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,missense_variant,p.Ser224Tyr,ENST00000564010,;SLC38A7,missense_variant,p.Ser313Tyr,ENST00000219320,;SLC38A7,missense_variant,p.Ser313Tyr,ENST00000570101,;SLC38A7,intron_variant,,ENST00000564100,;SLC38A7,downstream_gene_variant,,ENST00000570214,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000566953,;SLC38A7,3_prime_UTR_variant,,ENST00000566598,;SLC38A7,3_prime_UTR_variant,,ENST00000565785,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000562149,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000569209,;	1822	87	174	SUCCESS
ZDHHC1	29800	.	GRCh37	16	67432171	67432171	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	92	0	ENST00000348579.2:c.871G>C	p.Ala291Pro	p.A291P	ENST00000348579	NM_013304.2	291	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS10836.1	871	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGCCTCCT	NONE	.	.	hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF8	.	.	ENSP00000340299	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000348579	Transcript	.	.	ENSG00000159714	17916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.06)	.	ZDHC1_HUMAN	ZDHHC1	HGNC	.	.	UPI000013C37E	SNV	ZDHHC1,missense_variant,p.Ala291Pro,ENST00000348579,;ZDHHC1,missense_variant,p.Ala160Pro,ENST00000565726,;TPPP3,upstream_gene_variant,,ENST00000562206,;TPPP3,upstream_gene_variant,,ENST00000290942,;TPPP3,upstream_gene_variant,,ENST00000393957,;ZDHHC1,non_coding_transcript_exon_variant,,ENST00000562122,;ZDHHC1,upstream_gene_variant,,ENST00000566075,;ZDHHC1,upstream_gene_variant,,ENST00000567311,;TPPP3,upstream_gene_variant,,ENST00000561537,;	1213	92	112	SUCCESS
AP1G1	164	.	GRCh37	16	71823203	71823203	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	123	0	ENST00000299980.4:c.180C>T	p.Gly60=	p.G60=	ENST00000299980	NM_001128.5	60	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45522.1	180	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTAGCCCAG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,synonymous_variant,p.%3D,ENST00000569748,;AP1G1,synonymous_variant,p.%3D,ENST00000569185,;AP1G1,synonymous_variant,p.%3D,ENST00000567583,;AP1G1,synonymous_variant,p.%3D,ENST00000433195,;AP1G1,synonymous_variant,p.%3D,ENST00000563104,;AP1G1,synonymous_variant,p.%3D,ENST00000563259,;AP1G1,synonymous_variant,p.%3D,ENST00000565412,;AP1G1,synonymous_variant,p.%3D,ENST00000393512,;AP1G1,synonymous_variant,p.%3D,ENST00000299980,;AP1G1,synonymous_variant,p.%3D,ENST00000423132,;AP1G1,downstream_gene_variant,,ENST00000570017,;AP1G1,downstream_gene_variant,,ENST00000569975,;AP1G1,downstream_gene_variant,,ENST00000570297,;AP1G1,synonymous_variant,p.%3D,ENST00000568327,;AP1G1,synonymous_variant,p.%3D,ENST00000565009,;AP1G1,synonymous_variant,p.%3D,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000566161,;	622	123	137	SUCCESS
AP1G1	164	.	GRCh37	16	71823204	71823204	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	18	124	0	ENST00000299980.4:c.179G>T	p.Gly60Val	p.G60V	ENST00000299980	NM_001128.5	60	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45522.1	179	RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCCCAGC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,missense_variant,p.Gly60Val,ENST00000569748,;AP1G1,missense_variant,p.Gly60Val,ENST00000569185,;AP1G1,missense_variant,p.Gly60Val,ENST00000567583,;AP1G1,missense_variant,p.Gly83Val,ENST00000433195,;AP1G1,missense_variant,p.Gly60Val,ENST00000563104,;AP1G1,missense_variant,p.Gly60Val,ENST00000563259,;AP1G1,missense_variant,p.Gly60Val,ENST00000565412,;AP1G1,missense_variant,p.Gly60Val,ENST00000393512,;AP1G1,missense_variant,p.Gly60Val,ENST00000299980,;AP1G1,missense_variant,p.Gly60Val,ENST00000423132,;AP1G1,downstream_gene_variant,,ENST00000570017,;AP1G1,downstream_gene_variant,,ENST00000569975,;AP1G1,downstream_gene_variant,,ENST00000570297,;AP1G1,missense_variant,p.Gly60Val,ENST00000568327,;AP1G1,missense_variant,p.Gly60Val,ENST00000565009,;AP1G1,missense_variant,p.Gly60Val,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000566161,;	621	124	135	SUCCESS
ZFHX3	463	.	GRCh37	16	72984568	72984568	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	174	0	ENST00000268489.5:c.3016G>C	p.Asp1006His	p.D1006H	ENST00000268489	NM_006885.3	1006	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS10908.1	3016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTCTGTCT	NONE	.	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,SMART_domains:SM00355,SMART_domains:SM00451	.	.	ENSP00000268489	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Asp92His,ENST00000397992,;ZFHX3,missense_variant,p.Asp1006His,ENST00000268489,;	3689	174	122	SUCCESS
ADAT1	23536	.	GRCh37	16	75637056	75637056	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	84	0	ENST00000307921.3:c.1303A>G	p.Lys435Glu	p.K435E	ENST00000307921	NM_012091.3	435	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10922.1	1303	MUTECT|MUSE	.	CACTTTGCTGA	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000310015	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000307921	Transcript	.	.	ENSG00000065457	228	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	ADAT1_HUMAN	ADAT1	HGNC	H3BU72_HUMAN,H3BP18_HUMAN	.	UPI000006FD70	SNV	ADAT1,missense_variant,p.Lys435Glu,ENST00000307921,;ADAT1,missense_variant,p.Lys77Glu,ENST00000566450,;ADAT1,upstream_gene_variant,,ENST00000568510,;RP11-77K12.8,non_coding_transcript_exon_variant,,ENST00000564489,;ADAT1,upstream_gene_variant,,ENST00000568478,;ADAT1,3_prime_UTR_variant,,ENST00000566445,;	1449	84	97	SUCCESS
OSGIN1	29948	.	GRCh37	16	83991263	83991263	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143273921	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	260	15	212	2	ENST00000343939.2:c.236G>A	p.Ser79Asn	p.S79N	ENST00000343939		79	aGc/aAc	0	A:0.0018	.	.	.	.	A	.	protein_coding	YES	CCDS10939.1	.	MUTECT|MUSE	.	CCCAAGCCCCC	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000355374	.	2/6	.	.	.	.	.	.	.	.	rs143273921	2/6	PASS	ENST00000361711	Transcript	.	.	ENSG00000140961	30093	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSGI1_HUMAN	OSGIN1	HGNC	J3KRK7_HUMAN,H3BTF9_HUMAN	.	UPI000006CF29	SNV	OSGIN1,missense_variant,p.Ser79Asn,ENST00000343939,;OSGIN1,5_prime_UTR_variant,,ENST00000361711,;OSGIN1,5_prime_UTR_variant,,ENST00000565123,;OSGIN1,5_prime_UTR_variant,,ENST00000393306,;OSGIN1,5_prime_UTR_variant,,ENST00000567707,;OSGIN1,downstream_gene_variant,,ENST00000561552,;OSGIN1,downstream_gene_variant,,ENST00000563543,;	459	214	275	SUCCESS
ADAD2	161931	.	GRCh37	16	84229967	84229967	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	49	0	ENST00000315906.5:c.1517T>A	p.Val506Glu	p.V506E	ENST00000315906	NM_001145400.1	506	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS10944.1	1763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGTGAAGG	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000268624	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,missense_variant,p.Val506Glu,ENST00000315906,;ADAD2,missense_variant,p.Val588Glu,ENST00000268624,;ADAD2,downstream_gene_variant,,ENST00000567685,;RP11-486L19.2,intron_variant,,ENST00000569834,;RP11-486L19.2,intron_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,downstream_gene_variant,,ENST00000564169,;	1856	49	79	SUCCESS
DNAH9	1770	.	GRCh37	17	11775087	11775087	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	31	87	0	ENST00000262442.4:c.10226A>T	p.Tyr3409Phe	p.Y3409F	ENST00000262442	NM_001372.3	3409	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS11160.1	10226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTACCTGA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000262442	.	52/69	.	.	.	.	.	.	.	.	.	52/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Tyr3409Phe,ENST00000454412,;DNAH9,missense_variant,p.Tyr3409Phe,ENST00000262442,;DNAH9,intron_variant,,ENST00000579703,;RP11-628O18.1,downstream_gene_variant,,ENST00000579621,;DNAH9,downstream_gene_variant,,ENST00000578834,;DNAH9,upstream_gene_variant,,ENST00000580255,;	10294	87	142	SUCCESS
DNAH9	1770	.	GRCh37	17	11786904	11786904	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	10	62	0	ENST00000262442.4:c.10808C>A	p.Ser3603Tyr	p.S3603Y	ENST00000262442	NM_001372.3	3603	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS11160.1	10808	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCCGATC	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000262442	.	56/69	.	.	.	.	.	.	.	.	.	56/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.702)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Ser3603Tyr,ENST00000454412,;DNAH9,missense_variant,p.Ser3603Tyr,ENST00000262442,;DNAH9,splice_region_variant,,ENST00000608377,;DNAH9,downstream_gene_variant,,ENST00000579703,;DNAH9,splice_region_variant,,ENST00000396001,;DNAH9,downstream_gene_variant,,ENST00000580255,;DNAH9,upstream_gene_variant,,ENST00000581682,;	10876	62	108	SUCCESS
ARHGAP44	9912	.	GRCh37	17	12819314	12819314	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	22	109	0	ENST00000379672.5:c.373T>A	p.Phe125Ile	p.F125I	ENST00000379672	NM_014859.4	125	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS45616.1	373	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTTTTTG	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000368994	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000379672	Transcript	.	.	ENSG00000006740	29096	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.348)	.	tolerated(0.37)	.	RHG44_HUMAN	ARHGAP44	HGNC	J3QQU7_HUMAN	.	UPI0000252116	SNV	ARHGAP44,missense_variant,p.Phe125Ile,ENST00000340825,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000379672,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000262444,;MIR1269B,downstream_gene_variant,,ENST00000580405,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000544416,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000580768,;ARHGAP44,non_coding_transcript_exon_variant,,ENST00000578442,;	673	109	169	SUCCESS
KCNJ12	3768	.	GRCh37	17	21319098	21319098	+	synonymous_variant	Silent	SNP	G	G	T	rs781883702	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	23	90	0	ENST00000331718.5:c.444G>T	p.Leu148=	p.L148=	ENST00000331718	NM_001194958.2	148	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11219.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01320,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,PIRSF_domain:PIRSF005465,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	rs781883702	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,synonymous_variant,p.%3D,ENST00000331718,;KCNJ12,synonymous_variant,p.%3D,ENST00000583088,;	1339	90	128	SUCCESS
FOXN1	8456	.	GRCh37	17	26851109	26851109	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	14	51	0	ENST00000226247.2:c.122G>T	p.Ser41Ile	p.S41I	ENST00000226247	NM_003593.2	41	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS11232.1	122	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGTGTAA	NONE	.	.	hmmpanther:PTHR11829:SF71,hmmpanther:PTHR11829	.	.	ENSP00000226247	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000226247	Transcript	.	.	ENSG00000109101	12765	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.221)	.	deleterious_low_confidence(0.01)	.	FOXN1_HUMAN	FOXN1	HGNC	J3KRT9_HUMAN	.	UPI000012ADE6	SNV	FOXN1,missense_variant,p.Ser41Ile,ENST00000579795,;FOXN1,missense_variant,p.Ser41Ile,ENST00000226247,;FOXN1,missense_variant,p.Ser41Ile,ENST00000577936,;RP11-192H23.4,intron_variant,,ENST00000481916,;	151	51	101	SUCCESS
TMEM132E	124842	.	GRCh37	17	32956067	32956067	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778414778	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	8	90	0	ENST00000321639.5:c.912C>A	p.Asp304Glu	p.D304E	ENST00000321639	NM_207313.1	304	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS11283.1	912	MUTECT|MUSE	.	CTGGACTTTGA	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	5/10	.	.	.	.	.	.	.	.	rs778414778	5/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.365)	.	deleterious(0.02)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Asp304Glu,ENST00000321639,;	1240	90	166	SUCCESS
NLE1	54475	.	GRCh37	17	33469091	33469091	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	44	0	ENST00000442241.4:c.69T>C	p.Asp23=	p.D23=	ENST00000442241	NM_001014445.1	23	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS11291.1	69	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCTCATCCTG	NONE	.	.	hmmpanther:PTHR19848:SF0,hmmpanther:PTHR19848,Pfam_domain:PF08154	.	.	ENSP00000413572	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000442241	Transcript	.	.	ENSG00000073536	19889	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NLE1_HUMAN	NLE1	HGNC	K7ERN7_HUMAN	.	UPI000013D293	SNV	NLE1,synonymous_variant,p.%3D,ENST00000442241,;NLE1,synonymous_variant,p.%3D,ENST00000360831,;NLE1,5_prime_UTR_variant,,ENST00000586869,;NLE1,upstream_gene_variant,,ENST00000588019,;NLE1,non_coding_transcript_exon_variant,,ENST00000593176,;NLE1,synonymous_variant,p.%3D,ENST00000589367,;NLE1,synonymous_variant,p.%3D,ENST00000588642,;	109	44	47	SUCCESS
LYZL6	57151	.	GRCh37	17	34266279	34266279	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	60	0	ENST00000585556.1:c.82G>A	p.Ala28Thr	p.A28T	ENST00000585556		28	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11302.1	82	MUTECT|VARSCANS	.	CTGGGCCAAGT	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF9,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00137,Prints_domain:PR00135	.	.	ENSP00000468094	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000585556	Transcript	.	.	ENSG00000161572	29614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	LYZL6_HUMAN	LYZL6	HGNC	.	.	UPI000006E183	SNV	LYZL6,missense_variant,p.Ala28Thr,ENST00000394523,;LYZL6,missense_variant,p.Ala28Thr,ENST00000585556,;LYZL6,missense_variant,p.Ala28Thr,ENST00000293274,;LYZL6,upstream_gene_variant,,ENST00000492340,;	417	60	76	SUCCESS
KRTAP3-3	85293	.	GRCh37	17	39150290	39150290	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	8	160	0	ENST00000391586.1:c.60C>A	p.Cys20Ter	p.C20*	ENST00000391586	NM_033185.2	20	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS32643.1	60	MUTECT|MUSE	.	GAGGAGCAGAT	NONE	.	.	hmmpanther:PTHR23260,Pfam_domain:PF04579	.	.	ENSP00000375428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391586	Transcript	.	.	ENSG00000212899	18890	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRA33_HUMAN	KRTAP3-3	HGNC	.	.	UPI00000706E5	SNV	KRTAP3-3,stop_gained,p.Cys20Ter,ENST00000391586,;	96	160	171	SUCCESS
ATP6V0A1	535	.	GRCh37	17	40652840	40652840	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	507	55	651	0	ENST00000343619.4:c.1795G>T	p.Ala599Ser	p.A599S	ENST00000343619	NM_001130021.1	599	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45683.1	1816	MUTECT|MUSE|VARSCANS	.	ATGATGCTCAT	NONE	.	.	hmmpanther:PTHR11629:SF25,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000264649	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000264649	Transcript	.	.	ENSG00000033627	865	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.659)	.	tolerated(0.08)	.	VPP1_HUMAN	ATP6V0A1	HGNC	K7EM24_HUMAN,K7ELZ6_HUMAN	.	UPI0000E59F9E	SNV	ATP6V0A1,missense_variant,p.Ala556Ser,ENST00000585525,;ATP6V0A1,missense_variant,p.Ala599Ser,ENST00000393829,;ATP6V0A1,missense_variant,p.Ala599Ser,ENST00000343619,;ATP6V0A1,missense_variant,p.Ala599Ser,ENST00000546249,;ATP6V0A1,missense_variant,p.Ala556Ser,ENST00000537728,;ATP6V0A1,missense_variant,p.Ala4Ser,ENST00000586201,;ATP6V0A1,missense_variant,p.Ala606Ser,ENST00000264649,;ATP6V0A1,missense_variant,p.Ala245Ser,ENST00000544137,;ATP6V0A1,upstream_gene_variant,,ENST00000588138,;RP11-194N12.2,downstream_gene_variant,,ENST00000591343,;ATP6V0A1,missense_variant,p.Ala15Ser,ENST00000587510,;	1947	651	562	SUCCESS
WNK4	65266	.	GRCh37	17	40946819	40946819	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	46	154	0	ENST00000246914.5:c.2380C>G	p.His794Asp	p.H794D	ENST00000246914	NM_032387.4	794	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS11439.1	2380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCACAGG	NONE	.	.	hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902	.	.	ENSP00000246914	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000246914	Transcript	.	.	ENSG00000126562	14544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.24)	.	WNK4_HUMAN	WNK4	HGNC	B0LPI0_HUMAN	.	UPI000006FC0F	SNV	WNK4,missense_variant,p.His794Asp,ENST00000246914,;WNK4,intron_variant,,ENST00000587745,;CNTD1,upstream_gene_variant,,ENST00000585355,;COA3,downstream_gene_variant,,ENST00000328434,;CNTD1,upstream_gene_variant,,ENST00000588527,;CNTD1,upstream_gene_variant,,ENST00000588408,;CNTD1,upstream_gene_variant,,ENST00000591559,;WNK4,3_prime_UTR_variant,,ENST00000591448,;CNTD1,upstream_gene_variant,,ENST00000592166,;WNK4,downstream_gene_variant,,ENST00000592072,;COA3,downstream_gene_variant,,ENST00000586680,;	2401	154	144	SUCCESS
CNTD1	124817	.	GRCh37	17	40961398	40961398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	10	114	0	ENST00000588408.1:c.838C>A	p.Gln280Lys	p.Q280K	ENST00000588408	NM_173478.2	280	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS11440.1	838	MUTECT|MUSE	.	ATTTGCAGAGC	NONE	.	.	hmmpanther:PTHR21615	.	.	ENSP00000465204	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000588408	Transcript	.	.	ENSG00000176563	26847	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.3)	.	CNTD1_HUMAN	CNTD1	HGNC	B4DXR6_HUMAN	.	UPI000006EFD8	SNV	CNTD1,missense_variant,p.Ala102Glu,ENST00000586652,;CNTD1,missense_variant,p.Gln197Lys,ENST00000588527,;CNTD1,missense_variant,p.Gln280Lys,ENST00000588408,;CNTD1,downstream_gene_variant,,ENST00000585355,;BECN1,downstream_gene_variant,,ENST00000586589,;BECN1,downstream_gene_variant,,ENST00000589663,;BECN1,downstream_gene_variant,,ENST00000590764,;BECN1,downstream_gene_variant,,ENST00000590099,;BECN1,downstream_gene_variant,,ENST00000588276,;BECN1,downstream_gene_variant,,ENST00000586754,;BECN1,downstream_gene_variant,,ENST00000590852,;BECN1,downstream_gene_variant,,ENST00000361523,;BECN1,downstream_gene_variant,,ENST00000438274,;CNTD1,non_coding_transcript_exon_variant,,ENST00000315066,;CNTD1,downstream_gene_variant,,ENST00000591559,;BECN1,downstream_gene_variant,,ENST00000587880,;BECN1,downstream_gene_variant,,ENST00000589492,;BECN1,downstream_gene_variant,,ENST00000590185,;CNTD1,downstream_gene_variant,,ENST00000592166,;BECN1,downstream_gene_variant,,ENST00000543382,;	1114	114	171	SUCCESS
CCDC43	124808	.	GRCh37	17	42756228	42756228	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	17	415	0	ENST00000315286.8:c.671G>C	p.Arg224Pro	p.R224P	ENST00000315286	NM_144609.2	224	cGa/cCa	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS45704.1	671	MUTECT|MUSE	.	GTTATCGCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31684	.	.	ENSP00000323782	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000315286	Transcript	.	.	ENSG00000180329	26472	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	CCD43_HUMAN	CCDC43	HGNC	.	.	UPI00002013C0	SNV	CCDC43,missense_variant,p.Arg224Pro,ENST00000315286,;CCDC43,missense_variant,p.Arg227Pro,ENST00000588210,;CCDC43,3_prime_UTR_variant,,ENST00000457422,;CCDC43,intron_variant,,ENST00000588687,;C17orf104,downstream_gene_variant,,ENST00000409122,;RP11-1072C15.4,upstream_gene_variant,,ENST00000591628,;C17orf104,intron_variant,,ENST00000588805,;C17orf104,intron_variant,,ENST00000472403,;CCDC43,downstream_gene_variant,,ENST00000592333,;	680	415	261	SUCCESS
GJC1	10052	.	GRCh37	17	42883077	42883077	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	17	106	0	ENST00000330514.4:c.109G>C	p.Ala37Pro	p.A37P	ENST00000330514		37	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS11487.1	109	MUTECT|MUSE	.	TACAGCTGTAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984:SF6,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00,Prints_domain:PR00206	.	.	ENSP00000411528	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426548	Transcript	.	.	ENSG00000182963	4280	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	CXG1_HUMAN	GJC1	HGNC	Q5H9P2_HUMAN,K7EQ14_HUMAN,K7ENT9_HUMAN,K7EM78_HUMAN	.	UPI000013C62A	SNV	GJC1,missense_variant,p.Ala37Pro,ENST00000590758,;GJC1,missense_variant,p.Ala37Pro,ENST00000587239,;GJC1,missense_variant,p.Ala37Pro,ENST00000592524,;GJC1,missense_variant,p.Ala37Pro,ENST00000586267,;GJC1,missense_variant,p.Ala37Pro,ENST00000591424,;GJC1,missense_variant,p.Ala37Pro,ENST00000426548,;GJC1,missense_variant,p.Ala37Pro,ENST00000330514,;GJC1,upstream_gene_variant,,ENST00000586347,;GJC1,upstream_gene_variant,,ENST00000587113,;	379	106	206	SUCCESS
NFE2L1	4779	.	GRCh37	17	46136906	46136906	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs141070896	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	45	0	ENST00000362042.3:c.2222A>T	p.Gln741Leu	p.Q741L	ENST00000362042	NM_003204.2	741	cAg/cTg	0	G:0	.	.	.	.	T	Q/L	protein_coding	YES	CCDS11524.1	2222	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGTACG	NONE	.	.	hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411	.	G:0.0001	ENSP00000354855	.	6/6	.	.	.	.	.	.	.	.	rs141070896	6/6	PASS	ENST00000362042	Transcript	.	.	ENSG00000082641	7781	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.059)	.	deleterious(0.01)	.	NF2L1_HUMAN	NFE2L1	HGNC	Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN	.	UPI000012FFCF	SNV	NFE2L1,missense_variant,p.Gln585Leu,ENST00000536222,;NFE2L1,missense_variant,p.Gln741Leu,ENST00000362042,;NFE2L1,missense_variant,p.Gln711Leu,ENST00000357480,;NFE2L1,missense_variant,p.Gln711Leu,ENST00000585291,;NFE2L1,missense_variant,p.Gln553Leu,ENST00000582155,;NFE2L1,missense_variant,p.Gln542Leu,ENST00000583378,;NFE2L1,missense_variant,p.Gln730Leu,ENST00000361665,;NFE2L1,intron_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000584634,;NFE2L1,downstream_gene_variant,,ENST00000583210,;NFE2L1,downstream_gene_variant,,ENST00000580037,;NFE2L1,downstream_gene_variant,,ENST00000577431,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;	2838	45	56	SUCCESS
DLX4	1748	.	GRCh37	17	48046980	48046980	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	21	0	ENST00000240306.3:c.148C>T	p.Pro50Ser	p.P50S	ENST00000240306	NM_138281.2	50	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11555.1	148	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCGTAT	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF30	.	.	ENSP00000240306	.	1/3	.	.	.	.	.	.	.	.	COSM1384130	1/3	PASS	ENST00000240306	Transcript	.	.	ENSG00000108813	2917	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.444)	.	tolerated(0.38)	1	DLX4_HUMAN	DLX4	HGNC	.	.	UPI0000070F94	SNV	DLX4,missense_variant,p.Pro50Ser,ENST00000240306,;DLX4,missense_variant,p.Pro50Ser,ENST00000505318,;DLX4,upstream_gene_variant,,ENST00000411890,;RNU6-1313P,upstream_gene_variant,,ENST00000362622,;DLX4,splice_region_variant,,ENST00000503410,;DLX4,upstream_gene_variant,,ENST00000503276,;	443	21	51	SUCCESS
SGCA	6442	.	GRCh37	17	48244792	48244792	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371675217	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	7	97	0	ENST00000262018.3:c.101G>T	p.Arg34Leu	p.R34L	ENST00000262018	NM_000023.2	34	cGt/cTt	0	A:0.0002,A:0.0002	A:0,A:0	.	A:0,A:0	.	T	R/L	protein_coding	YES	CCDS32679.1	101	MUTECT|MUSE	pathogenic	GGGCCGTGTCT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00736,Pfam_domain:PF05510,Gene3D:2.60.40.10,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132	A:0,A:0	A:0.0001,A:0.0001	ENSP00000262018	A:0.001,A:0.001	2/10	.	.	.	.	.	.	.	.	rs371675217,CM951149,SGCA:c.101G>A,COSM1225492	2/10	PASS	ENST00000262018	Transcript	.	A:0.0002	ENSG00000108823	10805	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,0,1	.	.	benign(0.055)	A:0,A:0	tolerated(0.16)	0,0,0,1	SGCA_HUMAN	SGCA	HGNC	.	.	UPI0000135907	SNV	SGCA,missense_variant,p.Arg34Leu,ENST00000543315,;SGCA,missense_variant,p.Arg34Leu,ENST00000344627,;SGCA,missense_variant,p.Arg34Leu,ENST00000262018,;SGCA,5_prime_UTR_variant,,ENST00000451235,;SGCA,intron_variant,,ENST00000511303,;SGCA,upstream_gene_variant,,ENST00000504073,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,intron_variant,,ENST00000513942,;SGCA,upstream_gene_variant,,ENST00000508382,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,missense_variant,p.Arg34Leu,ENST00000502555,;SGCA,missense_variant,p.Val54Leu,ENST00000514934,;SGCA,missense_variant,p.Arg34Leu,ENST00000513821,;SGCA,upstream_gene_variant,,ENST00000512526,;HILS1,downstream_gene_variant,,ENST00000545329,;HILS1,downstream_gene_variant,,ENST00000340499,;	137	97	153	SUCCESS
EPN3	55040	.	GRCh37	17	48614425	48614425	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146173668	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	18	38	0	ENST00000268933.3:c.508C>T	p.Arg170Cys	p.R170C	ENST00000268933	NM_017957.2	170	Cgc/Tgc	0	T:0	T:0.0015	.	T:0	.	T	R/C	protein_coding	YES	CCDS11570.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGCCGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12276:SF16,hmmpanther:PTHR12276	T:0	T:0.0001	ENSP00000268933	T:0.002	2/10	.	.	.	.	.	.	.	.	rs146173668	2/10	PASS	ENST00000268933	Transcript	.	T:0.0008	ENSG00000049283	18235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	T:0	deleterious(0.01)	.	EPN3_HUMAN	EPN3	HGNC	D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN	.	UPI0000073234	SNV	EPN3,missense_variant,p.Arg114Cys,ENST00000541226,;EPN3,missense_variant,p.Arg225Cys,ENST00000537145,;EPN3,missense_variant,p.Arg170Cys,ENST00000268933,;EPN3,downstream_gene_variant,,ENST00000507709,;EPN3,downstream_gene_variant,,ENST00000515126,;EPN3,downstream_gene_variant,,ENST00000507467,;EPN3,downstream_gene_variant,,ENST00000514874,;EPN3,downstream_gene_variant,,ENST00000503246,;EPN3,downstream_gene_variant,,ENST00000503690,;RP11-94C24.8,downstream_gene_variant,,ENST00000513017,;EPN3,downstream_gene_variant,,ENST00000571402,;EPN3,downstream_gene_variant,,ENST00000511414,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000507998,;EPN3,missense_variant,p.Arg170Cys,ENST00000510045,;EPN3,missense_variant,p.Arg170Cys,ENST00000574464,;EPN3,3_prime_UTR_variant,,ENST00000512379,;EPN3,3_prime_UTR_variant,,ENST00000512291,;RP11-94C24.8,downstream_gene_variant,,ENST00000509260,;	1087	38	114	SUCCESS
CACNA1G	8913	.	GRCh37	17	48695290	48695290	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	90	0	ENST00000359106.5:c.5226G>A		p.X1742_splice	ENST00000359106	NM_018896.4	1742	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS45730.1	5226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGTAGC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	30/38	.	.	.	.	.	.	.	.	.	30/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,intron_variant,,ENST00000514181,;CACNA1G,intron_variant,,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503436,;CACNA1G,synonymous_variant,p.%3D,ENST00000503607,;CACNA1G,synonymous_variant,p.%3D,ENST00000506406,;CACNA1G,synonymous_variant,p.%3D,ENST00000504076,;CACNA1G,synonymous_variant,p.%3D,ENST00000511765,;CACNA1G,intron_variant,,ENST00000511768,;	5226	90	115	SUCCESS
SPAG9	9043	.	GRCh37	17	49067132	49067132	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763286566	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	88	319	1	ENST00000262013.7:c.2719G>A	p.Asp907Asn	p.D907N	ENST00000262013	NM_001130528.2	907	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS45740.1	2719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCCACTG	NONE	.	.	hmmpanther:PTHR13886	.	.	ENSP00000262013	.	21/30	.	.	.	.	.	.	.	.	rs763286566	21/30	PASS	ENST00000262013	Transcript	.	.	ENSG00000008294	14524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.392)	.	tolerated(0.28)	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	SNV	SPAG9,missense_variant,p.Asp750Asn,ENST00000510283,;SPAG9,missense_variant,p.Asp151Asn,ENST00000513906,;SPAG9,missense_variant,p.Asp893Asn,ENST00000357122,;SPAG9,missense_variant,p.Asp897Asn,ENST00000505279,;SPAG9,missense_variant,p.Asp907Asn,ENST00000262013,;SPAG9,missense_variant,p.Asp80Asn,ENST00000513746,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,downstream_gene_variant,,ENST00000506483,;SPAG9,downstream_gene_variant,,ENST00000514205,;	2928	320	218	SUCCESS
TOM1L1	10040	.	GRCh37	17	52991114	52991114	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	111	0	ENST00000575882.1:c.378G>C	p.Trp126Cys	p.W126C	ENST00000575882	NM_005486.2	126	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS11582.1	378	MUTECT|MUSE	.	ACTTGGTCACA	NONE	.	.	PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,Pfam_domain:PF00790,Gene3D:1.25.40.90,PIRSF_domain:PIRSF036948,SMART_domains:SM00288,Superfamily_domains:SSF48464	.	.	ENSP00000460823	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000575882	Transcript	.	.	ENSG00000141198	11983	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TM1L1_HUMAN	TOM1L1	HGNC	I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN	.	UPI000003E7E0	SNV	TOM1L1,missense_variant,p.Trp73Cys,ENST00000572576,;TOM1L1,missense_variant,p.Trp125Cys,ENST00000570499,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000572298,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000570371,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000575333,;TOM1L1,missense_variant,p.Trp116Cys,ENST00000575909,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000445275,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000540336,;TOM1L1,missense_variant,p.Trp119Cys,ENST00000572158,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000348161,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000536554,;TOM1L1,missense_variant,p.Trp91Cys,ENST00000572405,;TOM1L1,missense_variant,p.Trp91Cys,ENST00000573607,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000575882,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000576932,;TOM1L1,3_prime_UTR_variant,,ENST00000572360,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,3_prime_UTR_variant,,ENST00000570965,;TOM1L1,upstream_gene_variant,,ENST00000570977,;	731	111	116	SUCCESS
SMG8	55181	.	GRCh37	17	57288227	57288227	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs548055635	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	68	0	ENST00000300917.5:c.815A>G	p.Asn272Ser	p.N272S	ENST00000300917	NM_018149.6	272	aAt/aGt	0	.	G:0	.	G:0	.	G	N/S	protein_coding	YES	CCDS11615.1	815	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAATGGAG	NONE	by1000G	.	hmmpanther:PTHR13091,hmmpanther:PTHR13091:SF0,Pfam_domain:PF10220	G:0	.	ENSP00000438748	G:0	2/5	.	.	.	.	.	.	.	.	rs548055635	2/5	PASS	ENST00000543872	Transcript	.	G:0.0002	ENSG00000167447	25551	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	G:0.001	tolerated(0.41)	.	SMG8_HUMAN	SMG8	HGNC	.	.	UPI000006CCB5	SNV	SMG8,missense_variant,p.Asn272Ser,ENST00000543872,;SMG8,missense_variant,p.Asn272Ser,ENST00000578922,;SMG8,missense_variant,p.Asn272Ser,ENST00000300917,;CTD-2510F5.6,intron_variant,,ENST00000577660,;SMG8,upstream_gene_variant,,ENST00000582469,;SMG8,intron_variant,,ENST00000580498,;SMG8,upstream_gene_variant,,ENST00000580798,;	1079	68	109	SUCCESS
RPS6KB1	6198	.	GRCh37	17	58013587	58013587	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	18	191	0	ENST00000225577.4:c.990A>T	p.Arg330Ser	p.R330S	ENST00000225577	NM_001272044.1	330	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11621.1	990	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAAATGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF48,hmmpanther:PTHR24351,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000225577	.	11/15	.	.	.	.	.	.	.	.	COSM3958606	11/15	PASS	ENST00000225577	Transcript	.	.	ENSG00000108443	10436	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.96)	.	deleterious(0)	1	KS6B1_HUMAN	RPS6KB1	HGNC	K7EIM2_HUMAN,B4DLT4_HUMAN	.	UPI000013C873	SNV	RPS6KB1,missense_variant,p.Arg330Ser,ENST00000406116,;RPS6KB1,missense_variant,p.Arg330Ser,ENST00000225577,;RPS6KB1,missense_variant,p.Arg307Ser,ENST00000443572,;RPS6KB1,missense_variant,p.Arg277Ser,ENST00000393021,;RP11-178C3.1,upstream_gene_variant,,ENST00000591035,;RPS6KB1,3_prime_UTR_variant,,ENST00000472940,;RPS6KB1,downstream_gene_variant,,ENST00000489824,;RPS6KB1,downstream_gene_variant,,ENST00000587622,;RPS6KB1,downstream_gene_variant,,ENST00000590928,;	1011	191	176	SUCCESS
STRADA	92335	.	GRCh37	17	61784645	61784645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	41	0	ENST00000336174.6:c.715A>G	p.Lys239Glu	p.K239E	ENST00000336174	NM_001003787.2	239	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32703.1	715	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTTGACAC	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361,PROSITE_profiles:PS50011	.	.	ENSP00000336655	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000336174	Transcript	.	.	ENSG00000266173	30172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.626)	.	tolerated(0.32)	.	STRAA_HUMAN	STRADA	HGNC	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN	.	UPI000013CBBE	SNV	STRADA,missense_variant,p.Lys202Glu,ENST00000392950,;STRADA,missense_variant,p.Lys210Glu,ENST00000582137,;STRADA,missense_variant,p.Lys239Glu,ENST00000336174,;STRADA,missense_variant,p.Lys181Glu,ENST00000375840,;STRADA,missense_variant,p.Lys181Glu,ENST00000245865,;STRADA,missense_variant,p.Lys111Glu,ENST00000578008,;STRADA,missense_variant,p.Lys195Glu,ENST00000447001,;STRADA,intron_variant,,ENST00000579340,;STRADA,intron_variant,,ENST00000578801,;STRADA,downstream_gene_variant,,ENST00000580338,;STRADA,upstream_gene_variant,,ENST00000582026,;STRADA,non_coding_transcript_exon_variant,,ENST00000580039,;STRADA,downstream_gene_variant,,ENST00000581505,;STRADA,3_prime_UTR_variant,,ENST00000581243,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,downstream_gene_variant,,ENST00000577375,;STRADA,upstream_gene_variant,,ENST00000583085,;	828	41	60	SUCCESS
DDX42	11325	.	GRCh37	17	61890756	61890756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	11	86	0	ENST00000389924.2:c.1844G>T	p.Arg615Leu	p.R615L	ENST00000389924	NM_203499.2	615	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS32704.1	1844	MUTECT|MUSE	.	GGTCCGGAACT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF125,Gene3D:3.40.50.300	.	.	ENSP00000464050	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000578681	Transcript	.	.	ENSG00000198231	18676	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	DDX42_HUMAN	DDX42	HGNC	J3QRI2_HUMAN,B3KMI4_HUMAN	.	UPI000017DA3D	SNV	DDX42,missense_variant,p.Arg615Leu,ENST00000389924,;DDX42,missense_variant,p.Arg615Leu,ENST00000578681,;DDX42,missense_variant,p.Arg615Leu,ENST00000583590,;DDX42,missense_variant,p.Arg496Leu,ENST00000359353,;DDX42,missense_variant,p.Arg615Leu,ENST00000457800,;DDX42,upstream_gene_variant,,ENST00000582985,;DDX42,non_coding_transcript_exon_variant,,ENST00000584951,;DDX42,non_coding_transcript_exon_variant,,ENST00000578593,;DDX42,non_coding_transcript_exon_variant,,ENST00000584010,;DDX42,upstream_gene_variant,,ENST00000579539,;DDX42,downstream_gene_variant,,ENST00000581477,;DDX42,downstream_gene_variant,,ENST00000577940,;DDX42,upstream_gene_variant,,ENST00000581767,;	2445	86	165	SUCCESS
PSMC5	5705	.	GRCh37	17	61908431	61908431	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	10	65	0	ENST00000310144.6:c.715C>T	p.Arg239Trp	p.R239W	ENST00000310144	NM_002805.5	239	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11645.1	715	MUTECT|MUSE|VARSCANS	.	TGGCACGGGAA	NONE	.	.	hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF12,TIGRFAM_domain:TIGR01242,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000310572	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000310144	Transcript	.	.	ENSG00000087191	9552	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PRS8_HUMAN	PSMC5	HGNC	J3QSA9_HUMAN,J3QLH6_HUMAN,J3KRP2_HUMAN	.	UPI00000219DE	SNV	PSMC5,missense_variant,p.Arg231Trp,ENST00000581882,;PSMC5,missense_variant,p.Arg231Trp,ENST00000375812,;PSMC5,missense_variant,p.Arg231Trp,ENST00000585123,;PSMC5,missense_variant,p.Arg239Trp,ENST00000310144,;PSMC5,missense_variant,p.Arg231Trp,ENST00000580864,;PSMC5,missense_variant,p.Arg231Trp,ENST00000584320,;PSMC5,missense_variant,p.Arg220Trp,ENST00000582130,;SMARCD2,downstream_gene_variant,,ENST00000323347,;SMARCD2,downstream_gene_variant,,ENST00000448276,;PSMC5,downstream_gene_variant,,ENST00000579708,;SMARCD2,downstream_gene_variant,,ENST00000225742,;FTSJ3,upstream_gene_variant,,ENST00000580272,;FTSJ3,upstream_gene_variant,,ENST00000581209,;FTSJ3,upstream_gene_variant,,ENST00000585145,;SMARCD2,downstream_gene_variant,,ENST00000450364,;FTSJ3,upstream_gene_variant,,ENST00000427159,;FTSJ3,upstream_gene_variant,,ENST00000584574,;PSMC5,downstream_gene_variant,,ENST00000581842,;FTSJ3,upstream_gene_variant,,ENST00000580295,;PSMC5,downstream_gene_variant,,ENST00000582420,;PSMC5,missense_variant,p.Thr99Met,ENST00000584880,;PSMC5,3_prime_UTR_variant,,ENST00000584536,;PSMC5,3_prime_UTR_variant,,ENST00000585242,;PSMC5,non_coding_transcript_exon_variant,,ENST00000578570,;PSMC5,non_coding_transcript_exon_variant,,ENST00000579031,;PSMC5,non_coding_transcript_exon_variant,,ENST00000581764,;PSMC5,non_coding_transcript_exon_variant,,ENST00000580063,;PSMC5,non_coding_transcript_exon_variant,,ENST00000579147,;SMARCD2,downstream_gene_variant,,ENST00000584483,;PSMC5,downstream_gene_variant,,ENST00000580265,;FTSJ3,upstream_gene_variant,,ENST00000579569,;FTSJ3,upstream_gene_variant,,ENST00000582476,;SMARCD2,downstream_gene_variant,,ENST00000584400,;FTSJ3,upstream_gene_variant,,ENST00000584193,;PSMC5,downstream_gene_variant,,ENST00000583283,;PSMC5,upstream_gene_variant,,ENST00000584657,;FTSJ3,upstream_gene_variant,,ENST00000577263,;SMARCD2,downstream_gene_variant,,ENST00000578234,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000581832,;FTSJ3,upstream_gene_variant,,ENST00000580290,;	1023	65	124	SUCCESS
GH2	2689	.	GRCh37	17	61957832	61957832	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	330	13	457	1	ENST00000423893.2:c.503C>A	p.Ser168Tyr	p.S168Y	ENST00000423893		168	tCc/tAc	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11648.1	756	MUTECT|MUSE	.	TGTAGGACTGA	NONE	.	.	.	.	.	ENSP00000333157	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332800	Transcript	.	.	ENSG00000136487	4262	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOM2_HUMAN	GH2	HGNC	.	.	UPI000002B3EF	SNV	GH2,missense_variant,p.Pro167Thr,ENST00000456543,;GH2,missense_variant,p.Ser153Tyr,ENST00000449787,;GH2,missense_variant,p.Ser168Tyr,ENST00000423893,;GH2,synonymous_variant,p.%3D,ENST00000332800,;	890	458	343	SUCCESS
DLG4	1742	.	GRCh37	17	7097812	7097812	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	54	0	ENST00000399506.2:c.1304C>T	p.Ala435Val	p.A435V	ENST00000399506		435	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45599.1	1433	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGCCCTG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR23119:SF4,hmmpanther:PTHR23119,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50044	.	.	ENSP00000382428	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000399510	Transcript	.	.	ENSG00000132535	2903	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	DLG4_HUMAN	DLG4	HGNC	Q3ZCU5_HUMAN,K7EKU8_HUMAN,K7EKP9_HUMAN,B9EGL1_HUMAN,B7Z647_HUMAN	.	UPI0000048D63	SNV	DLG4,missense_variant,p.Ala435Val,ENST00000399506,;DLG4,missense_variant,p.Ala432Val,ENST00000302955,;DLG4,missense_variant,p.Ala478Val,ENST00000399510,;DLG4,upstream_gene_variant,,ENST00000489885,;DLG4,upstream_gene_variant,,ENST00000491753,;	2286	54	66	SUCCESS
GPS2	2874	.	GRCh37	17	7216697	7216697	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	83	0	ENST00000380728.2:c.724+2T>C		p.X242_splice	ENST00000380728		242		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11100.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCACCTGT	NONE	.	.	.	.	.	ENSP00000370104	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380728	Transcript	.	.	ENSG00000132522	4550	.	.	HIGH	8/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPS2_HUMAN	GPS2	HGNC	I3L4X7_HUMAN	.	UPI0000000DD1	SNV	GPS2,splice_donor_variant,,ENST00000573684,;GPS2,splice_donor_variant,,ENST00000380728,;GPS2,splice_donor_variant,,ENST00000570780,;GPS2,splice_donor_variant,,ENST00000389167,;GPS2,splice_donor_variant,,ENST00000577040,;GPS2,splice_donor_variant,,ENST00000391950,;EIF5A,downstream_gene_variant,,ENST00000571955,;GPS2,upstream_gene_variant,,ENST00000574458,;NEURL4,downstream_gene_variant,,ENST00000570460,;EIF5A,downstream_gene_variant,,ENST00000336458,;NEURL4,downstream_gene_variant,,ENST00000315614,;EIF5A,downstream_gene_variant,,ENST00000573542,;EIF5A,downstream_gene_variant,,ENST00000576930,;NEURL4,downstream_gene_variant,,ENST00000399464,;EIF5A,downstream_gene_variant,,ENST00000419711,;NEURL4,downstream_gene_variant,,ENST00000571887,;EIF5A,downstream_gene_variant,,ENST00000336452,;EIF5A,downstream_gene_variant,,ENST00000572815,;EIF5A,downstream_gene_variant,,ENST00000573714,;EIF5A,downstream_gene_variant,,ENST00000416016,;NEURL4,downstream_gene_variant,,ENST00000574120,;RP11-542C16.2,splice_donor_variant,,ENST00000315601,;GPS2,splice_donor_variant,,ENST00000572172,;RP11-542C16.2,splice_donor_variant,,ENST00000575474,;GPS2,splice_donor_variant,,ENST00000571569,;GPS2,splice_donor_variant,,ENST00000571697,;GPS2,non_coding_transcript_exon_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;EIF5A,downstream_gene_variant,,ENST00000575001,;NEURL4,downstream_gene_variant,,ENST00000573186,;NEURL4,downstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000576794,;GPS2,downstream_gene_variant,,ENST00000572707,;EIF5A,downstream_gene_variant,,ENST00000355068,;NEURL4,downstream_gene_variant,,ENST00000572029,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;GPS2,downstream_gene_variant,,ENST00000571098,;	.	83	100	SUCCESS
KIF19	124602	.	GRCh37	17	72343926	72343926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	22	0	ENST00000389916.4:c.935G>A	p.Gly312Glu	p.G312E	ENST00000389916	NM_153209.3	312	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS32718.2	935	MUTECT|VARSCANS	.	TCTGGGAGGAA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000374566	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Gly312Glu,ENST00000389916,;KIF19,missense_variant,p.Gly270Glu,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1073	22	45	SUCCESS
KIF19	124602	.	GRCh37	17	72344027	72344027	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759216207	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	18	0	ENST00000389916.4:c.1036A>G	p.Ile346Val	p.I346V	ENST00000389916	NM_153209.3	346	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32718.2	1036	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACATTAAG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000374566	.	9/20	.	.	.	.	.	.	.	.	rs759216207	9/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ile346Val,ENST00000389916,;KIF19,missense_variant,p.Ile304Val,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1174	18	58	SUCCESS
CDR2L	30850	.	GRCh37	17	72998268	72998268	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs529209429	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	7	29	0	ENST00000337231.5:c.451C>T	p.Arg151Cys	p.R151C	ENST00000337231	NM_014603.2	151	Cgc/Tgc	0	.	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS11710.2	451	RADIA|MUTECT|VARSCANS	.	GGGAACGCAGG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19232:SF10,hmmpanther:PTHR19232	T:0	.	ENSP00000336587	T:0.001	4/5	.	.	.	.	.	.	.	.	rs529209429,COSM984240	4/5	PASS	ENST00000337231	Transcript	.	T:0.0002	ENSG00000109089	29999	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.821)	T:0	deleterious(0)	0,1	CDR2L_HUMAN	CDR2L	HGNC	.	.	UPI00005AE46D	SNV	CDR2L,missense_variant,p.Arg151Cys,ENST00000337231,;	863	29	63	SUCCESS
TMEM102	284114	.	GRCh37	17	7339378	7339378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	30	96	0	ENST00000323206.1:c.188C>T	p.Ala63Val	p.A63V	ENST00000323206	NM_178518.2	63	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11104.1	188	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCCAAGG	NONE	.	.	hmmpanther:PTHR10656:SF11,hmmpanther:PTHR10656	.	.	ENSP00000315387	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000323206	Transcript	.	.	ENSG00000181284	26722	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	TM102_HUMAN	TMEM102	HGNC	.	.	UPI000000DB5A	SNV	TMEM102,missense_variant,p.Ala63Val,ENST00000396568,;TMEM102,missense_variant,p.Ala63Val,ENST00000323206,;FGF11,upstream_gene_variant,,ENST00000575235,;FGF11,upstream_gene_variant,,ENST00000575082,;FGF11,upstream_gene_variant,,ENST00000293829,;FGF11,upstream_gene_variant,,ENST00000575398,;FGF11,upstream_gene_variant,,ENST00000572907,;RP11-104H15.9,downstream_gene_variant,,ENST00000570444,;RP11-104H15.8,downstream_gene_variant,,ENST00000576615,;RP11-104H15.7,intron_variant,,ENST00000575310,;RP11-104H15.10,upstream_gene_variant,,ENST00000575331,;FGF11,upstream_gene_variant,,ENST00000576328,;	461	96	181	SUCCESS
WBP2	23558	.	GRCh37	17	73851333	73851333	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	45	179	0	ENST00000254806.3:c.46A>G	p.Asn16Asp	p.N16D	ENST00000254806	NM_012478.3	16	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11731.1	46	RADIA|MUTECT|MUSE|VARSCANS	.	GTTATTGACGA	NONE	.	.	hmmpanther:PTHR31606:SF4,hmmpanther:PTHR31606,Pfam_domain:PF02893,Superfamily_domains:SSF50729	.	.	ENSP00000467579	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000591399	Transcript	.	.	ENSG00000132471	12738	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.05)	.	tolerated(0.1)	.	WBP2_HUMAN	WBP2	HGNC	K7ESN4_HUMAN,K7EIJ0_HUMAN,A6NG10_HUMAN	.	UPI0000138EBB	SNV	WBP2,missense_variant,p.Asn16Asp,ENST00000433525,;WBP2,missense_variant,p.Asn16Asp,ENST00000590221,;WBP2,missense_variant,p.Asn16Asp,ENST00000591399,;WBP2,missense_variant,p.Asn16Asp,ENST00000254806,;WBP2,5_prime_UTR_variant,,ENST00000587374,;WBP2,5_prime_UTR_variant,,ENST00000585462,;WBP2,5_prime_UTR_variant,,ENST00000344296,;WBP2,upstream_gene_variant,,ENST00000589642,;WBP2,upstream_gene_variant,,ENST00000593002,;WBP2,non_coding_transcript_exon_variant,,ENST00000590450,;WBP2,missense_variant,p.Asn16Asp,ENST00000588373,;WBP2,missense_variant,p.Asn16Asp,ENST00000591831,;WBP2,non_coding_transcript_exon_variant,,ENST00000589241,;WBP2,non_coding_transcript_exon_variant,,ENST00000592802,;WBP2,non_coding_transcript_exon_variant,,ENST00000416574,;WBP2,non_coding_transcript_exon_variant,,ENST00000589834,;WBP2,upstream_gene_variant,,ENST00000587642,;	471	179	195	SUCCESS
FBF1	85302	.	GRCh37	17	73916170	73916170	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	55	0	ENST00000586717.1:c.1807G>C	p.Glu603Gln	p.E603Q	ENST00000586717		603	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS45779.1	1804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTCTAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000324292	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,missense_variant,p.Glu602Gln,ENST00000319129,;FBF1,missense_variant,p.Glu617Gln,ENST00000592193,;FBF1,missense_variant,p.Glu603Gln,ENST00000389570,;FBF1,missense_variant,p.Glu603Gln,ENST00000586717,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;FBF1,downstream_gene_variant,,ENST00000586838,;	2078	55	98	SUCCESS
SPHK1	8877	.	GRCh37	17	74383503	74383503	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1360711567	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	48	0	ENST00000392496.3:c.991C>G	p.Pro331Ala	p.P331A	ENST00000392496	NM_001142602.1	331	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS11744.1	1249	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCCAAG	NONE	.	.	hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF11,Superfamily_domains:SSF111331	.	.	ENSP00000313681	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000323374	Transcript	.	.	ENSG00000176170	11240	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.953)	.	deleterious(0.02)	.	SPHK1_HUMAN	SPHK1	HGNC	Q9BTG7_HUMAN,Q53ZR5_HUMAN,K7EMA4_HUMAN,K7EJ32_HUMAN	.	UPI00001AF3B5	SNV	SPHK1,missense_variant,p.Pro345Ala,ENST00000590959,;SPHK1,missense_variant,p.Pro331Ala,ENST00000392496,;SPHK1,missense_variant,p.Pro417Ala,ENST00000323374,;SPHK1,missense_variant,p.Pro331Ala,ENST00000545180,;SPHK1,missense_variant,p.Pro331Ala,ENST00000592299,;SPHK1,downstream_gene_variant,,ENST00000590379,;UBE2O,downstream_gene_variant,,ENST00000319380,;UBE2O,downstream_gene_variant,,ENST00000587127,;PRPSAP1,upstream_gene_variant,,ENST00000442767,;PRPSAP1,upstream_gene_variant,,ENST00000423915,;SPHK1,downstream_gene_variant,,ENST00000591651,;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,non_coding_transcript_exon_variant,,ENST00000591762,;SPHK1,downstream_gene_variant,,ENST00000587167,;	1705	48	109	SUCCESS
TP53	7157	.	GRCh37	17	7577107	7577107	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs1057523347	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	65	0	ENST00000269305.4:c.831T>A	p.Cys277Ter	p.C277*	ENST00000269305	NM_001126112.2	277	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS11118.1	831	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGACAGGC	SITE|p.C277*|c.831T>A|6,CODON|p.0?|c.1_1182del1182|6,CODON|p.C277C|c.831T>C|4,CODON|p.C277Y|c.830G>A|15,CODON|p.C277F|c.830G>T|22,BUFFER|p.D281V|c.842A>T|5,BUFFER|p.D281G|c.842A>G|10,BUFFER|p.D281H|c.841G>C|6,BUFFER|p.D281H|c.841G>C|28,BUFFER|p.D281H|c.841G>C|3,BUFFER|p.D281H|c.841G>C|4,BUFFER|p.D281Y|c.841G>T|7,BUFFER|p.D281N|c.841G>A|7,BUFFER|p.D281N|c.841G>A|3,BUFFER|p.D281Y|c.841G>T|13,BUFFER|p.D281Y|c.841G>T|4,BUFFER|p.D281N|c.841G>A|27,BUFFER|p.R280R|c.840A>G|3,BUFFER|p.R280S|c.840A>T|11,BUFFER|p.R280S|c.840A>C|6,BUFFER|p.R280T|c.839G>C|63,BUFFER|p.R280T|c.839G>C|4,BUFFER|p.R280I|c.839G>T|17,BUFFER|p.R280K|c.839G>A|17,BUFFER|p.R280K|c.839G>A|6,BUFFER|p.R280I|c.839G>T|4,BUFFER|p.R280K|c.839G>A|57,BUFFER|p.R280I|c.839G>T|3,BUFFER|p.R280T|c.839G>C|10,BUFFER|p.R280K|c.839G>A|11,BUFFER|p.R280*|c.838A>T|12,BUFFER|p.R280G|c.838A>G|6,BUFFER|p.R280G|c.838A>G|3,BUFFER|p.R280G|c.838A>G|23,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279E|c.836G>A|4,BUFFER|p.G279E|c.836G>A|34,BUFFER|p.G279V|c.836G>T|3,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.A276D|c.827C>A|9,BUFFER|p.A276G|c.827C>G|4,BUFFER|p.A276D|c.827C>A|3,BUFFER|p.A276V|c.827C>T|7,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275C|c.825T>C|4,BUFFER|p.C275W|c.825T>G|8,BUFFER|p.C275*|c.825T>A|3,BUFFER|p.C275F|c.824G>T|10,BUFFER|p.C275S|c.824G>C|4,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275F|c.824G>T|43,BUFFER|p.C275F|c.824G>T|5,BUFFER|p.C275Y|c.824G>A|54,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275Y|c.824G>A|11,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM065496,TP53_g.13811T>G,TP53_g.13811T>C,TP53_g.13811T>A,COSM45109,COSM44972,COSM45299,COSM417972	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1,0,0,0,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Cys277Ter,ENST00000420246,;TP53,stop_gained,p.Cys277Ter,ENST00000269305,;TP53,stop_gained,p.Cys145Ter,ENST00000509690,;TP53,stop_gained,p.Cys277Ter,ENST00000359597,;TP53,stop_gained,p.Cys277Ter,ENST00000445888,;TP53,stop_gained,p.Cys277Ter,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1021	65	56	SUCCESS
TP53	7157	.	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs786201838	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	21	101	0	ENST00000269305.4:c.578A>G	p.His193Arg	p.H193R	ENST00000269305	NM_001126112.2	193	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS11118.1	578	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGATGCTGA	SITE|p.H193R|c.578A>G|8,SITE|p.H193R|c.578A>G|89,SITE|p.H61R|c.182A>G|23,SITE|p.H193R|c.578A>G|21,SITE|p.H193R|c.578A>G|22,SITE|p.H100R|c.299A>G|22,SITE|p.H193R|c.578A>G|5,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.H193fs*16|c.577_578insN|3,CODON|p.H193L|c.578A>T|8,CODON|p.H61P|c.182A>C|4,CODON|p.H100L|c.299A>T|8,CODON|p.H193L|c.578A>T|8,CODON|p.H100P|c.299A>C|4,CODON|p.H193P|c.578A>C|4,CODON|p.H193L|c.578A>T|3,CODON|p.H193L|c.578A>T|3,CODON|p.H193P|c.578A>C|16,CODON|p.H193P|c.578A>C|3,CODON|p.H193L|c.578A>T|37,CODON|p.H61L|c.182A>T|10,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM083194,CM951225,TP53_g.12647A>T,TP53_g.12647A>C,TP53_g.12647A>G,COSM10742,COSM11066,COSM43833,COSM308307,COSM99919,COSM131458,COSM131459,COSM99916,COSM308306,COSM99917,COSM308308,COSM131461,COSM3820719,COSM3970355,COSM3732881,COSM1740322,COSM2744772,COSM3970354,COSM308309,COSM131460,COSM99918	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.His193Arg,ENST00000413465,;TP53,missense_variant,p.His193Arg,ENST00000420246,;TP53,missense_variant,p.His193Arg,ENST00000269305,;TP53,missense_variant,p.His61Arg,ENST00000509690,;TP53,missense_variant,p.His193Arg,ENST00000359597,;TP53,missense_variant,p.His100Arg,ENST00000514944,;TP53,missense_variant,p.His193Arg,ENST00000445888,;TP53,missense_variant,p.His193Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	768	101	172	SUCCESS
TP53	7157	.	GRCh37	17	7578449	7578449	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs193920817	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	48	0	ENST00000269305.4:c.481G>T	p.Ala161Ser	p.A161S	ENST00000269305	NM_001126112.2	161	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11118.1	481	RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,likely_pathogenic	GATGGCCATGG	SITE|p.A161S|c.481G>T|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.A161A|c.483C>T|5,CODON|p.A161fs*9|c.481delG|3,CODON|p.A161V|c.482C>T|9,CODON|p.A161D|c.482C>A|9,BUFFER|p.K164N|c.492G>T|6,BUFFER|p.K164M|c.491A>T|4,BUFFER|p.K164E|c.490A>G|3,BUFFER|p.K164E|c.490A>G|3,BUFFER|p.K164E|c.490A>G|13,BUFFER|p.K164*|c.490A>T|11,BUFFER|p.K71E|c.211A>G|3,BUFFER|p.K32E|c.94A>G|4,BUFFER|p.Y163*|c.489C>G|5,BUFFER|p.Y163Y|c.489C>T|3,BUFFER|p.Y163*|c.489C>A|3,BUFFER|p.Y163C|c.488A>G|126,BUFFER|p.Y70C|c.209A>G|30,BUFFER|p.Y163S|c.488A>C|5,BUFFER|p.Y31C|c.92A>G|33,BUFFER|p.Y163C|c.488A>G|9,BUFFER|p.Y163C|c.488A>G|13,BUFFER|p.Y163C|c.488A>G|30,BUFFER|p.Y163C|c.488A>G|30,BUFFER|p.Y163H|c.487T>C|19,BUFFER|p.Y70D|c.208T>G|3,BUFFER|p.Y163N|c.487T>A|5,BUFFER|p.Y163N|c.487T>A|5,BUFFER|p.Y163D|c.487T>G|3,BUFFER|p.Y70N|c.208T>A|5,BUFFER|p.Y163N|c.487T>A|22,BUFFER|p.Y163D|c.487T>G|3,BUFFER|p.Y31D|c.91T>G|3,BUFFER|p.Y31N|c.91T>A|5,BUFFER|p.Y163D|c.487T>G|6,BUFFER|p.I162M|c.486C>G|3,BUFFER|p.I162N|c.485T>A|6,BUFFER|p.I162N|c.485T>A|9,BUFFER|p.I162S|c.485T>G|5,BUFFER|p.I69N|c.206T>A|6,BUFFER|p.I162N|c.485T>A|6,BUFFER|p.I30N|c.89T>A|6,BUFFER|p.I162V|c.484A>G|5,BUFFER|p.I162F|c.484A>T|11,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A29T|c.85G>A|10,BUFFER|p.A161T|c.481G>A|52,BUFFER|p.A68T|c.202G>A|10,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.R158fs*11|c.472_475delCGCG|3,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158C|c.471_472CC>TT|6,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157V|c.471C>A|3,BUFFER|p.V157G|c.470T>G|9,BUFFER|p.V157D|c.470T>A|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs193920817,TP53_g.12469G>C,TP53_g.12469G>T,TP53_g.12469G>A,TP53_g.12469del,COSM44230,COSM10739,COSM43549,COSM45501,COSM249095,COSM1610856,COSM249094,COSM1610857,COSM249096,COSM1610859,COSM3378356,COSM3717664,COSM2744887,COSM3717663,COSM249097,COSM1610858	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ala161Ser,ENST00000508793,;TP53,missense_variant,p.Ala161Ser,ENST00000413465,;TP53,missense_variant,p.Ala161Ser,ENST00000420246,;TP53,missense_variant,p.Ala161Ser,ENST00000269305,;TP53,missense_variant,p.Ala29Ser,ENST00000509690,;TP53,missense_variant,p.Ala161Ser,ENST00000359597,;TP53,missense_variant,p.Ala68Ser,ENST00000514944,;TP53,missense_variant,p.Ala161Ser,ENST00000445888,;TP53,missense_variant,p.Ala161Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	671	48	97	SUCCESS
ENGASE	64772	.	GRCh37	17	77075681	77075681	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	7	85	0	ENST00000579016.1:c.527G>C	p.Trp176Ser	p.W176S	ENST00000579016	NM_001042573.2	176	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS42394.1	527	MUTECT|VARSCANS	.	GGGCTGGACCA	NONE	.	.	Pfam_domain:PF03644,hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.Trp176Ser,ENST00000579016,;ENGASE,missense_variant,p.Trp135Ser,ENST00000311595,;ENGASE,intron_variant,,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,intron_variant,,ENST00000578419,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,upstream_gene_variant,,ENST00000583041,;ENGASE,upstream_gene_variant,,ENST00000577783,;ENGASE,upstream_gene_variant,,ENST00000300682,;ENGASE,upstream_gene_variant,,ENST00000583646,;	527	85	83	SUCCESS
ENGASE	64772	.	GRCh37	17	77077980	77077980	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	10	117	0	ENST00000579016.1:c.873G>T	p.Arg291Ser	p.R291S	ENST00000579016	NM_001042573.2	291	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS42394.1	873	MUTECT|MUSE|VARSCANS	.	CTCAGGGTCTT	NONE	.	.	Pfam_domain:PF03644,hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.461)	.	deleterious(0.03)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.Arg291Ser,ENST00000579016,;ENGASE,missense_variant,p.Arg250Ser,ENST00000311595,;ENGASE,missense_variant,p.Arg105Ser,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000585160,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,missense_variant,p.Arg68Ser,ENST00000300682,;ENGASE,splice_region_variant,,ENST00000578419,;ENGASE,splice_region_variant,,ENST00000583646,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,upstream_gene_variant,,ENST00000583041,;ENGASE,upstream_gene_variant,,ENST00000577783,;	873	117	116	SUCCESS
DNAH2	146754	.	GRCh37	17	7734001	7734001	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	18	86	0	ENST00000389173.2:c.12071A>G	p.Tyr4024Cys	p.Y4024C	ENST00000389173	NM_020877.2	4024	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32551.1	12071	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATCTCG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF03028	.	.	ENSP00000458355	.	79/86	.	.	.	.	.	.	.	.	.	79/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Tyr4024Cys,ENST00000389173,;DNAH2,missense_variant,p.Tyr4024Cys,ENST00000572933,;DNAH2,missense_variant,p.Tyr973Cys,ENST00000575105,;	13531	86	150	SUCCESS
GAA	2548	.	GRCh37	17	78091993	78091993	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	50	0	ENST00000302262.3:c.2483G>T	p.Gly828Val	p.G828V	ENST00000302262	NM_000152.3	828	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32760.1	2483	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCCCTG	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48	.	.	ENSP00000305692	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000302262	Transcript	.	.	ENSG00000171298	4065	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.26)	.	LYAG_HUMAN	GAA	HGNC	I3L3L3_HUMAN,I3L0S5_HUMAN	.	UPI00000744FF	SNV	GAA,missense_variant,p.Gly828Val,ENST00000390015,;GAA,missense_variant,p.Gly828Val,ENST00000302262,;GAA,splice_region_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000570716,;GAA,downstream_gene_variant,,ENST00000572080,;	2702	50	96	SUCCESS
FASN	2194	.	GRCh37	17	80051491	80051491	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	7	33	0	ENST00000306749.2:c.437T>C	p.Phe146Ser	p.F146S	ENST00000306749	NM_004104.4	146	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS11801.1	437	MUTECT|MUSE|VARSCANS	.	AGAAGAAGGAG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.47.10,Pfam_domain:PF00109,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	4/43	.	.	.	.	.	.	.	.	COSM3717787	4/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.961)	.	deleterious(0)	1	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Phe146Ser,ENST00000306749,;	656	33	84	SUCCESS
CCDC57	284001	.	GRCh37	17	80115731	80115731	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	39	0	ENST00000389641.4:c.2134C>T	p.Gln712Ter	p.Q712*	ENST00000389641		712	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	2134	MUTECT|MUSE	.	CACCTGCTTCC	NONE	.	.	hmmpanther:PTHR23161:SF1,hmmpanther:PTHR23161	.	.	ENSP00000376154	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000392343	Transcript	.	.	ENSG00000176155	27564	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD57_HUMAN	CCDC57	HGNC	.	.	UPI000022A20F	SNV	CCDC57,stop_gained,p.Gln712Ter,ENST00000389641,;CCDC57,stop_gained,p.Gln712Ter,ENST00000392343,;CCDC57,stop_gained,p.Gln96Ter,ENST00000419322,;CCDC57,stop_gained,p.Gln712Ter,ENST00000392347,;RP11-1376P16.1,upstream_gene_variant,,ENST00000582774,;RP11-1376P16.2,downstream_gene_variant,,ENST00000579979,;CCDC57,non_coding_transcript_exon_variant,,ENST00000327026,;CCDC57,upstream_gene_variant,,ENST00000475635,;	2489	39	73	SUCCESS
CEP76	79959	.	GRCh37	18	12691398	12691398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	9	85	0	ENST00000262127.2:c.893G>T	p.Arg298Leu	p.R298L	ENST00000262127	NM_024899.3	298	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11861.1	893	MUTECT|MUSE	.	AGGGTCGAATT	NONE	.	.	hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF5	.	.	ENSP00000262127	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000262127	Transcript	.	.	ENSG00000101624	25727	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CEP76_HUMAN	CEP76	HGNC	.	.	UPI00000715E7	SNV	CEP76,missense_variant,p.Arg83Leu,ENST00000591034,;CEP76,missense_variant,p.Arg298Leu,ENST00000262127,;CEP76,missense_variant,p.Arg223Leu,ENST00000423709,;CEP76,missense_variant,p.Arg173Leu,ENST00000585751,;PSMG2,intron_variant,,ENST00000585331,;CEP76,intron_variant,,ENST00000587666,;PSMG2,intron_variant,,ENST00000586445,;CEP76,downstream_gene_variant,,ENST00000592660,;PSMG2,downstream_gene_variant,,ENST00000589405,;CEP76,3_prime_UTR_variant,,ENST00000590143,;CEP76,3_prime_UTR_variant,,ENST00000593250,;	1119	85	116	SUCCESS
CEP192	55125	.	GRCh37	18	13056654	13056654	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	94	0	ENST00000506447.1:c.4065C>T	p.Asn1355=	p.N1355=	ENST00000506447	NM_032142.3	1355	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS32792.2	4065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACTGTGG	NONE	.	.	hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029	.	.	ENSP00000427550	.	19/45	.	.	.	.	.	.	.	.	.	19/45	PASS	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,synonymous_variant,p.%3D,ENST00000325971,;CEP192,synonymous_variant,p.%3D,ENST00000589596,;CEP192,synonymous_variant,p.%3D,ENST00000506447,;CEP192,synonymous_variant,p.%3D,ENST00000430049,;CEP192,synonymous_variant,p.%3D,ENST00000511820,;CEP192,synonymous_variant,p.%3D,ENST00000585938,;CEP192,synonymous_variant,p.%3D,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,upstream_gene_variant,,ENST00000589993,;	4145	94	104	SUCCESS
LDLRAD4	753	.	GRCh37	18	13612553	13612553	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	10	0	ENST00000359446.5:c.182-8563C>T		p.*61*	ENST00000359446	NM_181481.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32793.1	.	MUTECT|MUSE	.	CCCCCCCCTCC	NONE	.	.	.	.	.	ENSP00000354753	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361205	Transcript	.	.	ENSG00000168675	1224	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRAD4_HUMAN	LDLRAD4	HGNC	K7EMG1_HUMAN,K7EKD6_HUMAN,K7EJM9_HUMAN	.	UPI0000126BCF	SNV	LDLRAD4,5_prime_UTR_variant,,ENST00000587757,;LDLRAD4,intron_variant,,ENST00000361205,;LDLRAD4,intron_variant,,ENST00000359446,;LDLRAD4,intron_variant,,ENST00000399848,;LDLRAD4,intron_variant,,ENST00000587905,;LDLRAD4,intron_variant,,ENST00000593236,;LDLRAD4,intron_variant,,ENST00000585931,;LDLRAD4,upstream_gene_variant,,ENST00000586765,;MIR4526,downstream_gene_variant,,ENST00000583168,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000590308,;LDLRAD4,intron_variant,,ENST00000586207,;LDLRAD4,upstream_gene_variant,,ENST00000592812,;	.	10	10	SUCCESS
LPIN2	9663	.	GRCh37	18	2925247	2925247	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	8	176	0	ENST00000261596.4:c.1913C>G	p.Ser638Cys	p.S638C	ENST00000261596	NM_014646.2	638	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS11829.1	1913	MUTECT|MUSE	.	GGAGAGACTTC	NONE	.	.	hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11	.	.	ENSP00000261596	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000261596	Transcript	.	.	ENSG00000101577	14450	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,missense_variant,p.Ser638Cys,ENST00000261596,;RP11-737O24.5,downstream_gene_variant,,ENST00000608032,;	2152	176	154	SUCCESS
ASXL3	80816	.	GRCh37	18	31314285	31314285	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	7	273	0	ENST00000269197.5:c.988C>T	p.Pro330Ser	p.P330S	ENST00000269197	NM_030632.1	330	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45847.1	988	MUTECT|MUSE	.	TTACCCCAGAA	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578,Pfam_domain:PF13919	.	.	ENSP00000269197	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Pro330Ser,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	988	273	177	SUCCESS
SYT4	6860	.	GRCh37	18	40854035	40854035	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	7	171	0	ENST00000255224.3:c.359A>T	p.Asn120Ile	p.N120I	ENST00000255224	NM_020783.3	120	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS11922.1	359	MUTECT|MUSE	.	TTGCATTCTCC	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114	.	.	ENSP00000255224	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.25)	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,missense_variant,p.Asn120Ile,ENST00000255224,;SYT4,missense_variant,p.Asn102Ile,ENST00000590752,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000591820,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,upstream_gene_variant,,ENST00000589479,;	728	171	176	SUCCESS
RAB27B	5874	.	GRCh37	18	52556472	52556472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	7	109	0	ENST00000262094.5:c.485C>A	p.Thr162Lys	p.T162K	ENST00000262094	NM_004163.4	162	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS11958.1	485	MUTECT|MUSE	.	TGAAACAAGTG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF424,PROSITE_profiles:PS51419	.	.	ENSP00000262094	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262094	Transcript	.	.	ENSG00000041353	9767	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RB27B_HUMAN	RAB27B	HGNC	K7ES41_HUMAN	.	UPI0000001268	SNV	RAB27B,missense_variant,p.Thr162Lys,ENST00000262094,;RAB27B,intron_variant,,ENST00000592334,;RAB27B,downstream_gene_variant,,ENST00000586570,;RP11-839G9.1,intron_variant,,ENST00000588466,;RAB27B,downstream_gene_variant,,ENST00000586594,;	1006	109	103	SUCCESS
VPS4B	9525	.	GRCh37	18	61067824	61067824	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	14	170	0	ENST00000238497.5:c.597A>G	p.Ile199Met	p.I199M	ENST00000238497	NM_004869.3	199	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS11983.1	597	MUTECT|MUSE	.	GAAGATATTGA	NONE	.	.	hmmpanther:PTHR23074:SF72,hmmpanther:PTHR23074,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000238497	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000238497	Transcript	.	.	ENSG00000119541	10895	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.604)	.	deleterious(0)	.	VPS4B_HUMAN	VPS4B	HGNC	.	.	UPI0000073CAF	SNV	VPS4B,missense_variant,p.Ile199Met,ENST00000238497,;VPS4B,non_coding_transcript_exon_variant,,ENST00000591383,;VPS4B,upstream_gene_variant,,ENST00000588323,;VPS4B,3_prime_UTR_variant,,ENST00000588059,;VPS4B,non_coding_transcript_exon_variant,,ENST00000589604,;VPS4B,non_coding_transcript_exon_variant,,ENST00000591475,;	801	170	213	SUCCESS
CDH7	1005	.	GRCh37	18	63430104	63430104	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	8	96	0	ENST00000323011.3:c.26G>T	p.Cys9Phe	p.C9F	ENST00000323011	NM_033646.1	9	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS11993.1	26	MUTECT|MUSE	.	GTTCTGCCATT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91	.	.	ENSP00000381058	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.125)	.	tolerated(0.06)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Cys9Phe,ENST00000397968,;CDH7,missense_variant,p.Cys9Phe,ENST00000536984,;CDH7,missense_variant,p.Cys9Phe,ENST00000323011,;CDH7,upstream_gene_variant,,ENST00000581601,;	452	96	121	SUCCESS
RAB31	11031	.	GRCh37	18	9859227	9859227	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs147665641	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	22	90	0	ENST00000578921.1:c.493C>A	p.Arg165Ser	p.R165S	ENST00000578921	NM_006868.3	165	Cgc/Agc	0	T:0.0003	T:0.0015	.	T:0	.	A	R/S	protein_coding	YES	CCDS45826.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGCCAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF331,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	T:0	T:0.0001	ENSP00000461945	T:0	7/7	.	.	.	.	.	.	.	.	rs147665641,COSM1222918	7/7	PASS	ENST00000578921	Transcript	.	T:0.0006	ENSG00000168461	9771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.135)	T:0.001	deleterious(0.01)	0,1	RAB31_HUMAN	RAB31	HGNC	.	.	UPI00000729DB	SNV	RAB31,missense_variant,p.Arg165Ser,ENST00000578921,;RAB31,splice_region_variant,,ENST00000583921,;RAB31,splice_region_variant,,ENST00000580795,;RAB31,splice_region_variant,,ENST00000577284,;RAB31,splice_region_variant,,ENST00000435762,;RAB31,splice_region_variant,,ENST00000581109,;RAB31,splice_region_variant,,ENST00000578734,;	734	90	128	SUCCESS
ICAM1	3383	.	GRCh37	19	10381826	10381826	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	90	0	ENST00000264832.3:c.-10C>T		p.*4*	ENST00000264832	NM_000201.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12231.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCAGCCT	NONE	.	.	.	.	.	ENSP00000264832	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000264832	Transcript	1	.	ENSG00000090339	5344	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICAM1_HUMAN	ICAM1	HGNC	B4DNT6_HUMAN	.	UPI000000D91C	SNV	ICAM1,5_prime_UTR_variant,,ENST00000423829,;ICAM1,5_prime_UTR_variant,,ENST00000588645,;ICAM1,5_prime_UTR_variant,,ENST00000264832,;CTD-2369P2.5,intron_variant,,ENST00000592893,;	316	90	62	SUCCESS
ABCA7	10347	.	GRCh37	19	1051263	1051263	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	13	42	0	ENST00000263094.6:c.2794A>T	p.Lys932Ter	p.K932*	ENST00000263094	NM_019112.3	932	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS12055.1	2794	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAAGCAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000263094	.	20/47	.	.	.	.	.	.	.	.	.	20/47	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,stop_gained,p.Lys932Ter,ENST00000263094,;ABCA7,stop_gained,p.Lys794Ter,ENST00000435683,;ABCA7,stop_gained,p.Lys932Ter,ENST00000433129,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000530092,;	3025	42	108	SUCCESS
SMARCA4	6597	.	GRCh37	19	11141502	11141502	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	31	0	ENST00000344626.4:c.3479G>A	p.Gly1160Glu	p.G1160E	ENST00000344626	NM_003072.3	1160	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12253.1	3479	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TGGGGGGCTCG	BUFFER|p.R1157W|c.3469C>T|4	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51194	.	.	ENSP00000395654	.	26/36	.	.	.	.	.	.	.	.	.	26/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Gly1160Glu,ENST00000450717,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000358026,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000413806,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000444061,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000541122,;SMARCA4,missense_variant,p.Gly5Glu,ENST00000592158,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000590574,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000344626,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000589677,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,upstream_gene_variant,,ENST00000586892,;	3760	31	62	SUCCESS
ZNF440	126070	.	GRCh37	19	11942428	11942428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	71	206	2	ENST00000304060.5:c.437G>A	p.Cys146Tyr	p.C146Y	ENST00000304060	NM_152357.2	146	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS42503.1	437	RADIA|VARSCANS	.	TAAGTGTCAAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF35,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000305373	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304060	Transcript	.	.	ENSG00000171295	20874	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.467)	.	deleterious(0.01)	.	ZN440_HUMAN	ZNF440	HGNC	K7EJ55_HUMAN,C9JG89_HUMAN	.	UPI0000074249	SNV	ZNF440,missense_variant,p.Cys24Tyr,ENST00000457526,;ZNF440,missense_variant,p.Cys146Tyr,ENST00000304060,;ZNF440,missense_variant,p.Cys148Tyr,ENST00000414255,;ZNF440,missense_variant,p.Cys149Tyr,ENST00000427505,;ZNF440,downstream_gene_variant,,ENST00000588954,;	601	209	188	SUCCESS
SIN3B	23309	.	GRCh37	19	16989085	16989085	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	13	0	ENST00000379803.1:c.3142del	p.Val1048TrpfsTer22	p.V1048Wfs*22	ENST00000379803	NM_015260.2	1048	Gtg/tg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS32946.1	3142	INDELOCATOR|VARSCANI	.	GTGGGCGTGGAG	NONE	.	.	hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1	.	.	ENSP00000369131	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	deletion	SIN3B,frameshift_variant,p.Val606TrpfsTer22,ENST00000595541,;SIN3B,frameshift_variant,p.Val1016TrpfsTer22,ENST00000248054,;SIN3B,frameshift_variant,p.Val1048TrpfsTer22,ENST00000379803,;SIN3B,non_coding_transcript_exon_variant,,ENST00000594235,;SIN3B,non_coding_transcript_exon_variant,,ENST00000601141,;SIN3B,non_coding_transcript_exon_variant,,ENST00000595049,;	3156	13	35	SUCCESS
USHBP1	83878	.	GRCh37	19	17369122	17369122	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	77	0	ENST00000252597.3:c.1119C>G	p.Ala373=	p.A373=	ENST00000252597	NM_031941.3	373	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS12353.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGGCTTC	NONE	.	.	hmmpanther:PTHR23347:SF5,hmmpanther:PTHR23347	.	.	ENSP00000252597	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000252597	Transcript	.	.	ENSG00000130307	24058	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USBP1_HUMAN	USHBP1	HGNC	M0R3B1_HUMAN,M0R172_HUMAN	.	UPI000006F7A8	SNV	USHBP1,synonymous_variant,p.%3D,ENST00000252597,;USHBP1,synonymous_variant,p.%3D,ENST00000431146,;AC010646.3,upstream_gene_variant,,ENST00000594059,;USHBP1,downstream_gene_variant,,ENST00000594190,;USHBP1,downstream_gene_variant,,ENST00000595993,;USHBP1,downstream_gene_variant,,ENST00000598570,;USHBP1,3_prime_UTR_variant,,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;	1293	77	66	SUCCESS
JAK3	3718	.	GRCh37	19	17950393	17950393	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777849274	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	34	0	ENST00000458235.1:c.1334G>A	p.Arg445Gln	p.R445Q	ENST00000458235	NM_000215.3	445	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12366.1	1334	RADIA|MUTECT|VARSCANS	.	GGGGTCGGCTG	NONE	byFrequency	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Gene3D:3.30.505.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000391676	.	10/24	.	.	.	.	.	.	.	.	rs777849274,COSM3822312,COSM3822311	10/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	benign(0.007)	.	tolerated(0.22)	0,1,1	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Arg445Gln,ENST00000458235,;JAK3,missense_variant,p.Arg445Gln,ENST00000534444,;JAK3,missense_variant,p.Arg445Gln,ENST00000527670,;JAK3,non_coding_transcript_exon_variant,,ENST00000526008,;JAK3,non_coding_transcript_exon_variant,,ENST00000528705,;JAK3,non_coding_transcript_exon_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528293,;	1434	34	51	SUCCESS
ZNF91	7644	.	GRCh37	19	23545393	23545393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	18	222	0	ENST00000300619.7:c.388G>T	p.Asp130Tyr	p.D130Y	ENST00000300619	NM_003430.2	130	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42541.1	388	MUTECT|MUSE|VARSCANS	.	CTCATCCACAC	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.908)	.	tolerated(1)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Asp31Tyr,ENST00000595533,;ZNF91,missense_variant,p.Asp98Tyr,ENST00000397082,;ZNF91,missense_variant,p.Asp130Tyr,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	594	222	169	SUCCESS
URI1	8725	.	GRCh37	19	30476164	30476164	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	47	222	0	ENST00000392271.1:c.-42G>A		p.*14*	ENST00000392271	NM_003796.3	63		0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12420.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGAGAAAGA	NONE	.	.	Superfamily_domains:SSF46579,Gene3D:1.10.287.370,Pfam_domain:PF02996,hmmpanther:PTHR15111:SF0,hmmpanther:PTHR15111	.	.	ENSP00000442436	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000542441	Transcript	.	.	ENSG00000105176	13236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	tolerated(0.07)	.	RMP_HUMAN	URI1	HGNC	I3NI51_HUMAN,I3L2V7_HUMAN,I3L130_HUMAN,I3L104_HUMAN	.	UPI00001604C8	SNV	URI1,missense_variant,p.Glu23Lys,ENST00000312051,;URI1,missense_variant,p.Glu63Lys,ENST00000542441,;URI1,missense_variant,p.Glu45Lys,ENST00000360605,;URI1,5_prime_UTR_variant,,ENST00000392271,;URI1,5_prime_UTR_variant,,ENST00000570564,;URI1,5_prime_UTR_variant,,ENST00000576442,;URI1,5_prime_UTR_variant,,ENST00000574233,;URI1,non_coding_transcript_exon_variant,,ENST00000570704,;URI1,3_prime_UTR_variant,,ENST00000574110,;URI1,3_prime_UTR_variant,,ENST00000574666,;	484	222	156	SUCCESS
ANKRD27	84079	.	GRCh37	19	33134347	33134347	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	59	112	0	ENST00000306065.4:c.629A>T	p.Gln210Leu	p.Q210L	ENST00000306065	NM_032139.2	210	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32986.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGCTTC	NONE	.	.	Superfamily_domains:0044157,hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1	.	.	ENSP00000304292	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000306065	Transcript	.	.	ENSG00000105186	25310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.28)	.	ANR27_HUMAN	ANKRD27	HGNC	K7EPM2_HUMAN,K7EIN0_HUMAN,K7EIH4_HUMAN	.	UPI000004FDE9	SNV	ANKRD27,missense_variant,p.Gln210Leu,ENST00000306065,;ANKRD27,missense_variant,p.Gln210Leu,ENST00000587352,;ANKRD27,intron_variant,,ENST00000586463,;ANKRD27,downstream_gene_variant,,ENST00000590519,;ANKRD27,downstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000591100,;ANKRD27,3_prime_UTR_variant,,ENST00000588700,;ANKRD27,non_coding_transcript_exon_variant,,ENST00000593232,;	788	112	111	SUCCESS
RGS9BP	388531	.	GRCh37	19	33167297	33167297	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371159333	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	25	0	ENST00000334176.3:c.128C>T	p.Thr43Met	p.T43M	ENST00000334176	NM_207391.2	43	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS12424.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AAAGACGCGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF1,Pfam_domain:PF14523	.	T:0.0001	ENSP00000334134	.	1/1	.	.	.	.	.	.	.	.	rs371159333	1/1	PASS	ENST00000334176	Transcript	1	.	ENSG00000186326	30304	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.492)	.	deleterious(0.02)	.	R9BP_HUMAN	RGS9BP	HGNC	.	.	UPI0000198BA8	SNV	RGS9BP,missense_variant,p.Thr43Met,ENST00000334176,;ANKRD27,5_prime_UTR_variant,,ENST00000590519,;ANKRD27,upstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000306065,;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	985	25	16	SUCCESS
KIAA0355	0	.	GRCh37	19	34791740	34791740	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	13	55	0	ENST00000299505.6:c.362A>C	p.Gln121Pro	p.Q121P	ENST00000299505	NM_014686.3	121	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS12436.1	362	MUSE|VARSCANS	.	TGTGCAGGAGC	NONE	.	.	hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	.	ENSP00000299505	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.923)	.	deleterious_low_confidence(0.01)	.	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,missense_variant,p.Gln121Pro,ENST00000299505,;KIAA0355,5_prime_UTR_variant,,ENST00000588470,;KIAA0355,intron_variant,,ENST00000588338,;KIAA0355,downstream_gene_variant,,ENST00000589583,;KIAA0355,downstream_gene_variant,,ENST00000592124,;KIAA0355,downstream_gene_variant,,ENST00000585833,;RPL29P33,upstream_gene_variant,,ENST00000431093,;RPL29P33,upstream_gene_variant,,ENST00000587474,;	1235	55	114	SUCCESS
SBSN	374897	.	GRCh37	19	36019030	36019030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	38	153	0	ENST00000452271.2:c.154G>T	p.Asp52Tyr	p.D52Y	ENST00000452271	NM_001166034.1	52	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54253.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCCAGGG	NONE	.	.	hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3	.	.	ENSP00000430242	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000452271	Transcript	.	.	ENSG00000189001	24950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	SBSN_HUMAN	SBSN	HGNC	.	.	UPI000059D6E7	SNV	SBSN,missense_variant,p.Asp52Tyr,ENST00000452271,;SBSN,missense_variant,p.Asp52Tyr,ENST00000518157,;SBSN,missense_variant,p.Asp32Tyr,ENST00000588674,;	183	153	189	SUCCESS
ZNF527	84503	.	GRCh37	19	37879212	37879212	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	19	169	0	ENST00000436120.2:c.261G>T	p.Trp87Cys	p.W87C	ENST00000436120	NM_032453.1	87	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS42559.1	261	MUTECT|MUSE	.	GACTGGGAGTC	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71	.	.	ENSP00000390179	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000436120	Transcript	.	.	ENSG00000189164	29385	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	tolerated(0.06)	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,missense_variant,p.Trp55Cys,ENST00000588911,;ZNF527,missense_variant,p.Trp87Cys,ENST00000436120,;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,3_prime_UTR_variant,,ENST00000588512,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;	368	169	257	SUCCESS
WDR87	83889	.	GRCh37	19	38378502	38378502	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs564531656	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	14	302	0	ENST00000303868.5:c.5692G>T	p.Glu1898Ter	p.E1898*	ENST00000303868	NM_031951.3	1898	Gaa/Taa	0	.	T:0.0008	.	T:0	.	A	E/*	protein_coding	YES	CCDS46063.1	5692	MUTECT|MUSE	.	CTTTTCCTGTG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	T:0	.	ENSP00000368025	T:0	6/6	.	.	.	.	.	.	.	.	rs564531656	6/6	PASS	ENST00000303868	Transcript	.	T:0.0002	ENSG00000171804	29934	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,stop_gained,p.Glu1937Ter,ENST00000447313,;WDR87,stop_gained,p.Glu1898Ter,ENST00000303868,;	5917	302	254	SUCCESS
WDR87	83889	.	GRCh37	19	38378503	38378503	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	242	14	302	0	ENST00000303868.5:c.5691G>C	p.Gln1897His	p.Q1897H	ENST00000303868	NM_031951.3	1897	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS46063.1	5691	MUTECT|MUSE	.	TTTTCCTGTGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.643)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Gln1936His,ENST00000447313,;WDR87,missense_variant,p.Gln1897His,ENST00000303868,;	5916	302	257	SUCCESS
FCGBP	8857	.	GRCh37	19	40366097	40366097	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	52	0	ENST00000221347.6:c.14137G>A	p.Ala4713Thr	p.A4713T	ENST00000221347	NM_003890.2	4713	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12546.1	14137	RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCCACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	.	.	ENSP00000221347	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Ala4713Thr,ENST00000221347,;	14145	52	68	SUCCESS
MAP3K10	4294	.	GRCh37	19	40715117	40715117	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	45	0	ENST00000253055.3:c.1543G>A	p.Ala515Thr	p.A515T	ENST00000253055	NM_002446.3	515	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12549.1	1543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCCATT	NONE	.	.	PIRSF_domain:PIRSF000556	.	.	ENSP00000253055	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000253055	Transcript	.	.	ENSG00000130758	6849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	M3K10_HUMAN	MAP3K10	HGNC	.	.	UPI000013CDAC	SNV	MAP3K10,missense_variant,p.Ala515Thr,ENST00000253055,;MAP3K10,downstream_gene_variant,,ENST00000593906,;MAP3K10,3_prime_UTR_variant,,ENST00000597986,;MAP3K10,3_prime_UTR_variant,,ENST00000593502,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000594791,;MAP3K10,downstream_gene_variant,,ENST00000594569,;MAP3K10,downstream_gene_variant,,ENST00000594951,;MAP3K10,downstream_gene_variant,,ENST00000601702,;	1831	45	81	SUCCESS
CEACAM3	1084	.	GRCh37	19	42300660	42300660	+	synonymous_variant	Silent	SNP	G	G	A	rs1555825266	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	84	1	ENST00000357396.3:c.51G>A	p.Gly17=	p.G17=	ENST00000357396	NM_001815.3	17	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12586.2	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCTTCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955	.	.	ENSP00000349971	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,synonymous_variant,p.%3D,ENST00000357396,;CEACAM3,synonymous_variant,p.%3D,ENST00000344550,;CEACAM3,synonymous_variant,p.%3D,ENST00000221999,;CEACAM3,upstream_gene_variant,,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,synonymous_variant,p.%3D,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;	292	85	59	SUCCESS
PHLDB3	653583	.	GRCh37	19	43983597	43983597	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200179651	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	183	17	60	0	ENST00000292140.5:c.1634G>T	p.Arg545Leu	p.R545L	ENST00000292140	NM_198850.3	545	cGc/cTc	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS12621.2	1634	MUTECT|MUSE	.	TGATGCGGCCG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF15,PROSITE_profiles:PS50003	.	T:0.0005	ENSP00000292140	.	14/16	.	.	.	.	.	.	.	.	rs200179651	14/16	PASS	ENST00000292140	Transcript	.	.	ENSG00000176531	30499	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PHLB3_HUMAN	PHLDB3	HGNC	M0R3I7_HUMAN,M0R038_HUMAN	.	UPI00015C725F	SNV	PHLDB3,missense_variant,p.Arg545Leu,ENST00000292140,;PHLDB3,downstream_gene_variant,,ENST00000600660,;PHLDB3,downstream_gene_variant,,ENST00000596141,;PHLDB3,non_coding_transcript_exon_variant,,ENST00000595498,;PHLDB3,downstream_gene_variant,,ENST00000598849,;	1995	60	200	SUCCESS
QPCTL	54814	.	GRCh37	19	46202122	46202122	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760294625	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	60	0	ENST00000012049.5:c.850C>T	p.Arg284Cys	p.R284C	ENST00000012049	NM_017659.3	284	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS12672.1	850	MUTECT|MUSE	.	TCCCTCGCACG	NONE	byFrequency	.	hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF3,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000012049	.	5/7	.	.	.	.	.	.	.	.	rs760294625,COSM3535962	5/7	PASS	ENST00000012049	Transcript	.	.	ENSG00000011478	25952	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.868)	.	deleterious(0.01)	0,1	QPCTL_HUMAN	QPCTL	HGNC	.	.	UPI000013C51F	SNV	QPCTL,missense_variant,p.Arg190Cys,ENST00000366382,;QPCTL,missense_variant,p.Arg284Cys,ENST00000012049,;QPCTL,non_coding_transcript_exon_variant,,ENST00000592769,;QPCTL,downstream_gene_variant,,ENST00000591606,;	1071	60	76	SUCCESS
SYMPK	8189	.	GRCh37	19	46321291	46321291	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	42	0	ENST00000245934.7:c.3007A>C	p.Ile1003Leu	p.I1003L	ENST00000245934	NM_004819.2	1003	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS12676.2	3007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGACGG	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20,Pfam_domain:PF12295	.	.	ENSP00000245934	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.454)	.	tolerated(0.12)	.	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,missense_variant,p.Ile1003Leu,ENST00000245934,;RSPH6A,upstream_gene_variant,,ENST00000221538,;RSPH6A,upstream_gene_variant,,ENST00000597055,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598329,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,upstream_gene_variant,,ENST00000598364,;SYMPK,upstream_gene_variant,,ENST00000596824,;	3252	42	90	SUCCESS
DPP9	91039	.	GRCh37	19	4682767	4682767	+	synonymous_variant	Silent	SNP	G	G	A	rs748078465	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	11	73	0	ENST00000598800.1:c.2328C>T	p.Asn776=	p.N776=	ENST00000598800		776	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS45928.1	2415	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGTTCTC	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Gene3D:3.40.50.1820,Pfam_domain:PF00326,Superfamily_domains:SSF53474	.	.	ENSP00000262960	.	20/22	.	.	.	.	.	.	.	.	rs748078465	20/22	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,synonymous_variant,p.%3D,ENST00000262960,;DPP9,synonymous_variant,p.%3D,ENST00000598800,;DPP9,synonymous_variant,p.%3D,ENST00000594671,;DPP9,intron_variant,,ENST00000601720,;DPP9,downstream_gene_variant,,ENST00000595327,;AC005594.3,intron_variant,,ENST00000381796,;DPP9,downstream_gene_variant,,ENST00000601173,;DPP9,3_prime_UTR_variant,,ENST00000597900,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;	2693	73	102	SUCCESS
KCNA7	3743	.	GRCh37	19	49573841	49573841	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs546430763	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	35	0	ENST00000221444.1:c.850C>T	p.Arg284Cys	p.R284C	ENST00000221444	NM_031886.2	284	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12755.1	850	RADIA|MUTECT|MUSE|VARSCANS	.	GACACGCACCA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000221444	.	2/2	.	.	.	.	.	.	.	.	rs546430763	2/2	PASS	ENST00000221444	Transcript	.	.	ENSG00000104848	6226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNA7_HUMAN	KCNA7	HGNC	.	.	UPI000004F638	SNV	KCNA7,missense_variant,p.Arg284Cys,ENST00000221444,;	1206	35	68	SUCCESS
VRK3	51231	.	GRCh37	19	50482384	50482384	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	84	0	ENST00000316763.3:c.1392A>G	p.Pro464=	p.P464=	ENST00000316763	NM_016440.3	464	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS12791.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATATGGAGA	NONE	.	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF99,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000469880	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000599538	Transcript	.	.	ENSG00000105053	18996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VRK3_HUMAN	VRK3	HGNC	M0R025_HUMAN,M0QZ79_HUMAN,M0QYA8_HUMAN,M0QXD7_HUMAN	.	UPI0000035BA6	SNV	VRK3,synonymous_variant,p.%3D,ENST00000601341,;VRK3,synonymous_variant,p.%3D,ENST00000594948,;VRK3,synonymous_variant,p.%3D,ENST00000316763,;VRK3,synonymous_variant,p.%3D,ENST00000599538,;VRK3,synonymous_variant,p.%3D,ENST00000443401,;VRK3,synonymous_variant,p.%3D,ENST00000377011,;VRK3,downstream_gene_variant,,ENST00000594092,;VRK3,downstream_gene_variant,,ENST00000601912,;SIGLEC16,downstream_gene_variant,,ENST00000602139,;VRK3,3_prime_UTR_variant,,ENST00000596814,;VRK3,non_coding_transcript_exon_variant,,ENST00000598553,;SIGLEC16,downstream_gene_variant,,ENST00000456956,;SIGLEC16,downstream_gene_variant,,ENST00000417280,;	2057	84	92	SUCCESS
KLK11	11012	.	GRCh37	19	51530742	51530742	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	31	0	ENST00000594768.1:c.32A>G	p.Lys11Arg	p.K11R	ENST00000594768	NM_144947.1	11	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS12818.1	32	RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTTCCAG	NONE	.	.	hmmpanther:PTHR24275:SF13,hmmpanther:PTHR24275	.	.	ENSP00000473047	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000594768	Transcript	.	.	ENSG00000167757	6359	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.74)	.	KLK11_HUMAN	KLK11	HGNC	M0QZV0_HUMAN,M0QZI8_HUMAN	.	UPI000002ACDC	SNV	KLK11,missense_variant,p.Lys11Arg,ENST00000594768,;KLK11,intron_variant,,ENST00000319720,;KLK11,intron_variant,,ENST00000391804,;KLK11,upstream_gene_variant,,ENST00000453757,;KLK11,upstream_gene_variant,,ENST00000600362,;KLK12,downstream_gene_variant,,ENST00000525263,;KLK11,upstream_gene_variant,,ENST00000601671,;KLK12,downstream_gene_variant,,ENST00000250352,;KLK12,downstream_gene_variant,,ENST00000529888,;KLK12,downstream_gene_variant,,ENST00000250351,;KLK11,upstream_gene_variant,,ENST00000593681,;KLK12,downstream_gene_variant,,ENST00000319590,;KLK11,upstream_gene_variant,,ENST00000598799,;CTC-518B2.9,upstream_gene_variant,,ENST00000594910,;KLK11,upstream_gene_variant,,ENST00000594458,;KLK11,missense_variant,p.Lys11Arg,ENST00000319756,;KLK12,downstream_gene_variant,,ENST00000530943,;KLK12,downstream_gene_variant,,ENST00000531374,;KLK12,downstream_gene_variant,,ENST00000526824,;KLK11,upstream_gene_variant,,ENST00000594827,;	218	31	70	SUCCESS
SIGLEC12	89858	.	GRCh37	19	52001391	52001391	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	84	0	ENST00000291707.3:c.1286G>T	p.Gly429Val	p.G429V	ENST00000291707	NM_053003.2	429	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12833.1	1286	MUTECT|MUSE	.	GCACCCCAAGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,PROSITE_profiles:PS50835	.	.	ENSP00000291707	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000291707	Transcript	.	.	ENSG00000254521	15482	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	SIG12_HUMAN	SIGLEC12	HGNC	.	.	UPI0000135992	SNV	SIGLEC12,missense_variant,p.Gly429Val,ENST00000291707,;SIGLEC12,missense_variant,p.Gly311Val,ENST00000598614,;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	1342	84	97	SUCCESS
ZNF613	79898	.	GRCh37	19	52443518	52443518	+	synonymous_variant	Silent	SNP	C	C	G	rs769216106	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	50	92	0	ENST00000293471.6:c.72C>G	p.Leu24=	p.L24=	ENST00000293471	NM_001031721.3	24	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33089.1	72	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCTCGG	NONE	.	.	PROSITE_profiles:PS50805,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000293471	.	4/6	.	.	.	.	.	.	.	.	rs769216106	4/6	PASS	ENST00000293471	Transcript	.	.	ENSG00000176024	25827	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN613_HUMAN	ZNF613	HGNC	M0R2C1_HUMAN,M0QX19_HUMAN	.	UPI0000202AD1	SNV	ZNF613,synonymous_variant,p.%3D,ENST00000600853,;ZNF613,synonymous_variant,p.%3D,ENST00000293471,;ZNF613,5_prime_UTR_variant,,ENST00000391794,;ZNF613,5_prime_UTR_variant,,ENST00000599683,;ZNF613,non_coding_transcript_exon_variant,,ENST00000593379,;ZNF613,downstream_gene_variant,,ENST00000593395,;ZNF613,upstream_gene_variant,,ENST00000601794,;	751	93	140	SUCCESS
VN1R2	317701	.	GRCh37	19	53761997	53761997	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	54	109	0	ENST00000341702.3:c.369C>A	p.Ser123=	p.S123=	ENST00000341702	NM_173856.2	123	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12862.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCACAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01534	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	COSM1000769	1/1	PASS	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,synonymous_variant,p.%3D,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	453	109	117	SUCCESS
OSCAR	126014	.	GRCh37	19	54602893	54602893	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	76	0	ENST00000359649.4:c.71-1G>T		p.X24_splice	ENST00000359649	NM_206818.1	24		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12876.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACTAAGG	NONE	.	.	.	.	.	ENSP00000352671	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	HIGH	2/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,splice_acceptor_variant,,ENST00000356532,;OSCAR,splice_acceptor_variant,,ENST00000359649,;OSCAR,intron_variant,,ENST00000358375,;OSCAR,intron_variant,,ENST00000284648,;OSCAR,intron_variant,,ENST00000351806,;OSCAR,intron_variant,,ENST00000391761,;OSCAR,intron_variant,,ENST00000391760,;NDUFA3,upstream_gene_variant,,ENST00000485876,;NDUFA3,upstream_gene_variant,,ENST00000391762,;NDUFA3,upstream_gene_variant,,ENST00000391763,;NDUFA3,upstream_gene_variant,,ENST00000303553,;NDUFA3,upstream_gene_variant,,ENST00000471292,;NDUFA3,upstream_gene_variant,,ENST00000391764,;NDUFA3,upstream_gene_variant,,ENST00000484103,;NDUFA3,upstream_gene_variant,,ENST00000422029,;NDUFA3,upstream_gene_variant,,ENST00000451517,;NDUFA3,upstream_gene_variant,,ENST00000417903,;NDUFA3,upstream_gene_variant,,ENST00000419113,;	.	76	83	SUCCESS
LILRB5	10990	.	GRCh37	19	54760149	54760149	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1173357717	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	31	0	ENST00000449561.2:c.412G>A	p.Gly138Arg	p.G138R	ENST00000449561		138	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46176.1	412	MUTECT|VARSCANS	.	ATTTCCTCCTG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000406478	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.58)	.	tolerated(0.09)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Gly129Arg,ENST00000450632,;LILRB5,missense_variant,p.Gly138Arg,ENST00000449561,;LILRB5,missense_variant,p.Gly138Arg,ENST00000316219,;LILRB5,intron_variant,,ENST00000345866,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,intron_variant,,ENST00000463460,;	483	31	59	SUCCESS
PTPRH	5794	.	GRCh37	19	55716907	55716907	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs144055741	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	9	222	0	ENST00000376350.3:c.406G>T	p.Ala136Ser	p.A136S	ENST00000376350	NM_002842.3	136	Gcc/Tcc	0	T:0.0002	T:0.0008	.	T:0	.	A	A/S	protein_coding	YES	CCDS33110.1	406	MUTECT|MUSE	.	CAGGGCGATGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0.0109	T:0	ENSP00000365528	T:0	4/20	.	.	.	.	.	.	.	.	rs144055741	4/20	PASS	ENST00000376350	Transcript	.	T:0.0028	ENSG00000080031	9672	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	T:0.002	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,missense_variant,p.Ala136Ser,ENST00000376350,;PTPRH,intron_variant,,ENST00000263434,;PTPRH,non_coding_transcript_exon_variant,,ENST00000587662,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586310,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588370,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586852,;	429	222	207	SUCCESS
ZNF264	9422	.	GRCh37	19	57723477	57723477	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	23	80	0	ENST00000263095.6:c.1012A>G	p.Ser338Gly	p.S338G	ENST00000263095	NM_003417.4	338	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS33127.1	1012	RADIA|VARSCANS	.	TCCACAGTGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF96,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000263095	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000263095	Transcript	.	.	ENSG00000083844	13057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.05)	.	ZN264_HUMAN	ZNF264	HGNC	M0QXF3_HUMAN	.	UPI000013C33B	SNV	ZNF264,missense_variant,p.Ser338Gly,ENST00000263095,;ZNF264,missense_variant,p.Ser338Gly,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;	1426	80	113	SUCCESS
ZNF264	9422	.	GRCh37	19	57723567	57723567	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs373693955	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	21	119	0	ENST00000263095.6:c.1102G>T	p.Glu368Ter	p.E368*	ENST00000263095	NM_003417.4	368	Gag/Tag	0	A:0	.	.	.	.	T	E/*	protein_coding	YES	CCDS33127.1	1102	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGAGAAG	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF96,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	A:0.0001	ENSP00000263095	.	4/4	.	.	.	.	.	.	.	.	rs373693955	4/4	PASS	ENST00000263095	Transcript	.	.	ENSG00000083844	13057	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN264_HUMAN	ZNF264	HGNC	M0QXF3_HUMAN	.	UPI000013C33B	SNV	ZNF264,stop_gained,p.Glu368Ter,ENST00000263095,;ZNF264,stop_gained,p.Glu368Ter,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;	1516	119	164	SUCCESS
MUC16	94025	.	GRCh37	19	9002558	9002558	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1203893129	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	22	256	0	ENST00000397910.4:c.40258C>A	p.His13420Asn	p.H13420N	ENST00000397910	NM_024690.2	13420	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS54212.1	40258	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGGGTCA	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	51/84	.	.	.	.	.	.	.	.	.	51/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.922)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.His61Asn,ENST00000380951,;MUC16,missense_variant,p.His13420Asn,ENST00000397910,;MUC16,missense_variant,p.His260Asn,ENST00000599436,;MUC16,missense_variant,p.His260Asn,ENST00000601404,;MUC16,missense_variant,p.His40Asn,ENST00000596768,;	40462	256	184	SUCCESS
MUC16	94025	.	GRCh37	19	9087113	9087113	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	381	38	347	0	ENST00000397910.4:c.4702A>G	p.Thr1568Ala	p.T1568A	ENST00000397910	NM_024690.2	1568	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS54212.1	4702	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTCACGT	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr1568Ala,ENST00000397910,;	4906	347	420	SUCCESS
OR7D4	125958	.	GRCh37	19	9324856	9324856	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	6	71	0	ENST00000308682.2:c.658C>A	p.Gln220Lys	p.Q220K	ENST00000308682	NM_001005191.2	220	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS32901.1	658	MUTECT|MUSE	.	AATCTGAGAGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000310488	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000308682	Transcript	.	.	ENSG00000174667	8380	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	tolerated(0.93)	.	OR7D4_HUMAN	OR7D4	HGNC	.	.	UPI00000472B5	SNV	OR7D4,missense_variant,p.Gln220Lys,ENST00000308682,;	687	71	84	SUCCESS
OR7D4	125958	.	GRCh37	19	9324879	9324879	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	81	0	ENST00000308682.2:c.635C>A	p.Ala212Asp	p.A212D	ENST00000308682	NM_001005191.2	212	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS32901.1	635	RADIA|MUTECT|MUSE	.	TCCCAGCTACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000310488	.	1/1	.	.	.	.	.	.	.	.	COSM1527131	1/1	PASS	ENST00000308682	Transcript	.	.	ENSG00000174667	8380	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.222)	.	deleterious(0.01)	1	OR7D4_HUMAN	OR7D4	HGNC	.	.	UPI00000472B5	SNV	OR7D4,missense_variant,p.Ala212Asp,ENST00000308682,;	664	81	81	SUCCESS
PIN1	5300	.	GRCh37	19	9949168	9949168	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774388688	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	8	48	0	ENST00000247970.4:c.115G>T	p.Gly39Cys	p.G39C	ENST00000247970	NM_006221.3	39	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS12220.1	115	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGGCAAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50020,hmmpanther:PTHR10657,SMART_domains:SM00456,Superfamily_domains:SSF51045	.	.	ENSP00000247970	.	2/4	.	.	.	.	.	.	.	.	rs774388688,COSM322654	2/4	PASS	ENST00000247970	Transcript	.	.	ENSG00000127445	8988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.994)	.	deleterious(0.01)	0,1	PIN1_HUMAN	PIN1	HGNC	Q8NFL2_HUMAN	.	UPI000004062D	SNV	PIN1,missense_variant,p.Gly39Cys,ENST00000587625,;PIN1,missense_variant,p.Gly39Cys,ENST00000588695,;PIN1,missense_variant,p.Gly39Cys,ENST00000247970,;CTD-2623N2.11,upstream_gene_variant,,ENST00000591174,;PIN1,non_coding_transcript_exon_variant,,ENST00000589058,;PIN1,non_coding_transcript_exon_variant,,ENST00000590540,;PIN1,non_coding_transcript_exon_variant,,ENST00000380889,;PIN1,non_coding_transcript_exon_variant,,ENST00000585442,;PIN1,downstream_gene_variant,,ENST00000592184,;PIN1,3_prime_UTR_variant,,ENST00000586352,;PIN1,non_coding_transcript_exon_variant,,ENST00000586025,;PIN1,upstream_gene_variant,,ENST00000591777,;	137	48	85	SUCCESS
STXBP3	6814	.	GRCh37	1	109339272	109339272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	8	153	0	ENST00000370008.3:c.1280T>A	p.Ile427Asn	p.I427N	ENST00000370008	NM_007269.2	427	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS790.1	1280	MUTECT|MUSE	.	GTTGATCCAGA	NONE	.	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:1.25.40.60,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33	.	.	ENSP00000359025	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.583)	.	deleterious(0.02)	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,missense_variant,p.Ile427Asn,ENST00000370008,;STXBP3,non_coding_transcript_exon_variant,,ENST00000472099,;STXBP3,downstream_gene_variant,,ENST00000495245,;	1330	153	182	SUCCESS
SRM	6723	.	GRCh37	1	11119332	11119332	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	7	124	0	ENST00000376957.2:c.238C>T	p.Gln80Ter	p.Q80*	ENST00000376957	NM_003132.2	80	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS125.1	238	MUTECT|MUSE	.	CTCCTGGTAGG	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:3.40.50.150,TIGRFAM_domain:TIGR00417,Pfam_domain:PF01564,hmmpanther:PTHR11558,PROSITE_profiles:PS51006,HAMAP:MF_00198	.	.	ENSP00000366156	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376957	Transcript	.	.	ENSG00000116649	11296	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPEE_HUMAN	SRM	HGNC	.	.	UPI0000049054	SNV	SRM,stop_gained,p.Gln54Ter,ENST00000487300,;SRM,stop_gained,p.Gln80Ter,ENST00000376957,;SRM,upstream_gene_variant,,ENST00000490101,;SRM,upstream_gene_variant,,ENST00000465788,;SRM,synonymous_variant,p.%3D,ENST00000459997,;SRM,upstream_gene_variant,,ENST00000475189,;	319	124	162	SUCCESS
ATP1A1	476	.	GRCh37	1	116933025	116933025	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	21	150	0	ENST00000295598.5:c.1214A>C	p.Asn405Thr	p.N405T	ENST00000295598	NM_000701.7	405	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS53351.1	1214	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAATCAGA	NONE	.	.	hmmpanther:PTHR24093:SF222,hmmpanther:PTHR24093,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00702,Superfamily_domains:SSF81660	.	.	ENSP00000445306	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.16)	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,missense_variant,p.Asn405Thr,ENST00000537345,;ATP1A1,missense_variant,p.Asn405Thr,ENST00000295598,;ATP1A1,missense_variant,p.Asn374Thr,ENST00000369496,;ATP1A1,downstream_gene_variant,,ENST00000418797,;ATP1A1,downstream_gene_variant,,ENST00000369494,;ATP1A1OS,downstream_gene_variant,,ENST00000608511,;ATP1A1,downstream_gene_variant,,ENST00000463382,;ATP1A1,downstream_gene_variant,,ENST00000491156,;ATP1A1,downstream_gene_variant,,ENST00000488733,;	1577	150	202	SUCCESS
DHRS3	9249	.	GRCh37	1	12677249	12677249	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771890260	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	41	65	0	ENST00000376223.2:c.105C>A	p.Asp35Glu	p.D35E	ENST00000376223	NM_004753.4	35	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS146.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGTCCCG	NONE	.	.	hmmpanther:PTHR24316:SF322,hmmpanther:PTHR24316,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735	.	.	ENSP00000365397	.	1/6	.	.	.	.	.	.	.	.	rs771890260	1/6	PASS	ENST00000376223	Transcript	.	.	ENSG00000162496	17693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	deleterious(0)	.	DHRS3_HUMAN	DHRS3	HGNC	Q5SUY4_HUMAN,Q0QD44_HUMAN	.	UPI000006EE74	SNV	DHRS3,missense_variant,p.Asp35Glu,ENST00000376223,;RP11-474O21.5,downstream_gene_variant,,ENST00000606790,;DHRS3,upstream_gene_variant,,ENST00000482265,;DHRS3,upstream_gene_variant,,ENST00000464917,;	489	65	111	SUCCESS
HIST2H2AC	0	.	GRCh37	1	149858545	149858545	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	42	121	0	ENST00000331380.2:c.21A>T	p.Gln7His	p.Q7H	ENST00000331380	NM_003517.2	7	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS937.1	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113	.	.	ENSP00000332194	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331380	Transcript	.	.	ENSG00000184260	4738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	H2A2C_HUMAN	HIST2H2AC	HGNC	.	.	UPI000007478F	SNV	HIST2H2AC,missense_variant,p.Gln7His,ENST00000331380,;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,;HIST2H2BE,upstream_gene_variant,,ENST00000369155,;	21	121	163	SUCCESS
SEMA6C	10500	.	GRCh37	1	151108527	151108527	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759216826	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	382	15	190	0	ENST00000341697.3:c.1219C>A	p.Pro407Thr	p.P407T	ENST00000341697		407	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS53364.1	1219	MUTECT|MUSE	.	AGGTGGTACAG	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,PROSITE_profiles:PS51004	.	.	ENSP00000357909	.	13/20	.	.	.	.	.	.	.	.	rs759216826	13/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.825)	.	deleterious(0)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Pro407Thr,ENST00000368914,;SEMA6C,missense_variant,p.Pro407Thr,ENST00000368913,;SEMA6C,missense_variant,p.Pro407Thr,ENST00000341697,;SEMA6C,missense_variant,p.Pro367Thr,ENST00000368912,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000485745,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000489944,;	1348	190	397	SUCCESS
CGN	57530	.	GRCh37	1	151499552	151499552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	246	25	122	0	ENST00000271636.7:c.1865G>T	p.Gly622Val	p.G622V	ENST00000271636	NM_020770.2	622	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS999.1	1865	MUTECT|MUSE|VARSCANS	.	TGCTGGAGATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF280,hmmpanther:PTHR13140	.	.	ENSP00000271636	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000271636	Transcript	.	.	ENSG00000143375	17429	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.3)	.	CING_HUMAN	CGN	HGNC	A6PVU7_HUMAN,A2A3M4_HUMAN	.	UPI0000161C1E	SNV	CGN,missense_variant,p.Gly622Val,ENST00000271636,;CGN,downstream_gene_variant,,ENST00000416743,;SNORA44,downstream_gene_variant,,ENST00000517031,;CGN,non_coding_transcript_exon_variant,,ENST00000464886,;	1998	122	271	SUCCESS
TCHHL1	126637	.	GRCh37	1	152057483	152057486	+	frameshift_variant	Frame_Shift_Del	DEL	CTCT	CTCT	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	CTCT	CTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	318	75	291	0	ENST00000368806.1:c.2672_2675del	p.Glu891GlyfsTer94	p.E891Gfs*94	ENST00000368806	NM_001008536.1	891	gAGAGg/gg	0	.	.	.	.	.	-	ER/X	protein_coding	YES	CCDS30857.1	2672-2675	VARSCANI*|PINDEL	.	ACCAGCCTCTCTCTC	NONE	.	.	.	.	.	ENSP00000357796	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368806	Transcript	.	.	ENSG00000182898	31796	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCHL1_HUMAN	TCHHL1	HGNC	.	.	UPI0000496834	deletion	TCHHL1,frameshift_variant,p.Glu891GlyfsTer94,ENST00000368806,;	2737-2740	291	393	SUCCESS
C1orf68	100129271	.	GRCh37	1	152692324	152692324	+	synonymous_variant	Silent	SNP	C	C	T	rs201318627	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	328	42	237	1	ENST00000368775.2:c.327C>T	p.Tyr109=	p.Y109=	ENST00000368775	NM_001024679.2	109	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS44226.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTACGTGAA	NONE	byCluster	.	hmmpanther:PTHR23263:SF4,hmmpanther:PTHR23263	.	.	ENSP00000357764	.	1/1	.	.	.	.	.	.	.	.	rs201318627	1/1	PASS	ENST00000368775	Transcript	.	.	ENSG00000198854	29468	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XP32_HUMAN	C1orf68	HGNC	.	.	UPI00001C1D9F	SNV	C1orf68,synonymous_variant,p.%3D,ENST00000368775,;	327	238	370	SUCCESS
PGLYRP4	57115	.	GRCh37	1	153314164	153314164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	17	82	0	ENST00000359650.5:c.564G>T	p.Gln188His	p.Q188H	ENST00000359650	NM_020393.2	188	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS30871.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCTGAAC	NONE	.	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000352672	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000359650	Transcript	.	.	ENSG00000163218	30015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PGRP4_HUMAN	PGLYRP4	HGNC	.	.	UPI000013F78A	SNV	PGLYRP4,missense_variant,p.Gln184His,ENST00000368739,;PGLYRP4,missense_variant,p.Gln188His,ENST00000359650,;PGLYRP4,downstream_gene_variant,,ENST00000490266,;	629	82	159	SUCCESS
ZBTB7B	51043	.	GRCh37	1	154988092	154988092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	12	63	0	ENST00000292176.2:c.956G>A	p.Ser319Asn	p.S319N	ENST00000292176		319	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS58030.1	1058	MUTECT|MUSE	.	CCTAAGCTCCC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF129	.	.	ENSP00000406286	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000417934	Transcript	.	.	ENSG00000160685	18668	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.542)	.	tolerated(0.08)	.	ZBT7B_HUMAN	ZBTB7B	HGNC	.	.	UPI0001A5EB6F	SNV	ZBTB7B,missense_variant,p.Ser319Asn,ENST00000535420,;ZBTB7B,missense_variant,p.Ser319Asn,ENST00000368426,;ZBTB7B,missense_variant,p.Ser319Asn,ENST00000292176,;ZBTB7B,missense_variant,p.Ser353Asn,ENST00000417934,;DCST2,downstream_gene_variant,,ENST00000368424,;ZBTB7B,downstream_gene_variant,,ENST00000461530,;ZBTB7B,downstream_gene_variant,,ENST00000483226,;ZBTB7B,downstream_gene_variant,,ENST00000487542,;DCST2,downstream_gene_variant,,ENST00000485982,;DCST2,downstream_gene_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000467991,;	1327	63	248	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156939122	156939122	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	59	59	0	ENST00000361409.2:c.657G>T	p.Gly219=	p.G219=	ENST00000361409	NM_014784.3	219	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1163.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCCCCTC	NONE	.	.	hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825	.	.	ENSP00000357177	.	10/41	.	.	.	.	.	.	.	.	.	10/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,synonymous_variant,p.%3D,ENST00000361409,;ARHGEF11,synonymous_variant,p.%3D,ENST00000368194,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000483682,;	1817	59	121	SUCCESS
SPTA1	6708	.	GRCh37	1	158605719	158605719	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	9	89	0	ENST00000368147.4:c.5416G>C	p.Glu1806Gln	p.E1806Q	ENST00000368147	NM_003126.2	1806	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS41423.1	5416	MUTECT|MUSE	.	CAACTCTTTGA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	38/52	.	.	.	.	.	.	.	.	.	38/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.861)	.	tolerated(0.64)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu1806Gln,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	5597	89	193	SUCCESS
SPTA1	6708	.	GRCh37	1	158651408	158651408	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	125	175	0	ENST00000368147.4:c.440C>T	p.Thr147Ile	p.T147I	ENST00000368147	NM_003126.2	147	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41423.1	440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGTCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	4/52	.	.	.	.	.	.	.	.	COSM4023816	4/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.698)	.	tolerated(0.42)	1	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Thr147Ile,ENST00000368147,;SPTA1,intron_variant,,ENST00000467387,;	621	175	316	SUCCESS
TMEM82	388595	.	GRCh37	1	16073479	16073479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	16	143	0	ENST00000375782.1:c.875T>A	p.Leu292His	p.L292H	ENST00000375782	NM_001013641.2	292	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS30608.1	875	MUTECT|MUSE|VARSCANS	.	CATCCTTGTCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000364938	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000375782	Transcript	.	.	ENSG00000162460	32350	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	TMM82_HUMAN	TMEM82	HGNC	.	.	UPI0000458A15	SNV	TMEM82,missense_variant,p.Leu292His,ENST00000375782,;RP11-169K16.4,intron_variant,,ENST00000418525,;TMEM82,downstream_gene_variant,,ENST00000465575,;	1013	143	157	SUCCESS
DUSP27	0	.	GRCh37	1	167086745	167086745	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760681958	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	31	91	0	ENST00000361200.2:c.386C>T	p.Ala129Val	p.A129V	ENST00000361200		129	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS30932.1	386	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGCCCT	NONE	byFrequency	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000354483	.	4/6	.	.	.	.	.	.	.	.	rs760681958,COSM1472926	4/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.03)	.	deleterious(0.04)	0,1	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Ala129Val,ENST00000361200,;DUSP27,missense_variant,p.Ala129Val,ENST00000443333,;DUSP27,missense_variant,p.Ala129Val,ENST00000271385,;	552	91	203	SUCCESS
RFWD2	0	.	GRCh37	1	175956209	175956209	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	265	15	114	0	ENST00000367669.3:c.2003A>G	p.Tyr668Cys	p.Y668C	ENST00000367669	NM_022457.5	668	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS30944.1	2003	MUTECT|MUSE	.	CTTTATAGTAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356641	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.124)	.	deleterious(0.01)	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.Tyr644Cys,ENST00000308769,;RFWD2,missense_variant,p.Tyr503Cys,ENST00000367666,;RFWD2,missense_variant,p.Tyr668Cys,ENST00000367669,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2518	114	280	SUCCESS
TDRD5	163589	.	GRCh37	1	179561759	179561759	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	38	0	ENST00000294848.8:c.9A>G	p.Glu3=	p.E3=	ENST00000294848	NM_173533.3	3	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS55663.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAACAAGA	NONE	.	.	.	.	.	ENSP00000406052	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;	259	38	97	SUCCESS
TDRD5	163589	.	GRCh37	1	179603595	179603595	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	279	12	162	0	ENST00000294848.8:c.1130A>T	p.Gln377Leu	p.Q377L	ENST00000294848	NM_173533.3	377	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS55663.1	1130	MUTECT|MUSE	.	AGTTCAGTCAG	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.06)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Gln377Leu,ENST00000367614,;TDRD5,missense_variant,p.Gln377Leu,ENST00000444136,;TDRD5,missense_variant,p.Gln377Leu,ENST00000294848,;	1380	162	292	SUCCESS
CACNA1E	777	.	GRCh37	1	181548355	181548355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	355	13	347	0	ENST00000367573.2:c.764A>T	p.Asn255Ile	p.N255I	ENST00000367573	NM_001205293.1	255	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS55664.1	764	MUTECT|MUSE	.	GAACAATTCAG	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	5/48	.	.	.	.	.	.	.	.	.	5/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.14)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Asn255Ile,ENST00000360108,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000524607,;CACNA1E,missense_variant,p.Asn206Ile,ENST00000358338,;CACNA1E,missense_variant,p.Asn206Ile,ENST00000357570,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000526775,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000367570,;CACNA1E,missense_variant,p.Asn255Ile,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	764	347	369	SUCCESS
DHX9	1660	.	GRCh37	1	182823304	182823304	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762343257	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	325	16	181	1	ENST00000367549.3:c.617A>G	p.Asp206Gly	p.D206G	ENST00000367549	NM_001357.4	206	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS41444.1	617	MUTECT|MUSE	.	TCCTGATCACA	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000356520	.	6/28	.	.	.	.	.	.	.	.	rs762343257	6/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Asp206Gly,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000479271,;DHX9,upstream_gene_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000483416,;	727	182	341	SUCCESS
DHX9	1660	.	GRCh37	1	182852382	182852382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	313	16	165	0	ENST00000367549.3:c.3023A>T	p.Glu1008Val	p.E1008V	ENST00000367549	NM_001357.4	1008	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS41444.1	3023	MUTECT|MUSE	.	TAAGGAAAAGA	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF07717	.	.	ENSP00000356520	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.946)	.	deleterious(0.04)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Glu1008Val,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,intron_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000474446,;	3133	165	329	SUCCESS
HMCN1	83872	.	GRCh37	1	186007150	186007150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	90	129	1	ENST00000271588.4:c.5834C>A	p.Ala1945Asp	p.A1945D	ENST00000271588	NM_031935.2	1945	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS30956.1	5834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCTGGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	37/107	.	.	.	.	.	.	.	.	.	37/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ala1945Asp,ENST00000367492,;HMCN1,missense_variant,p.Ala1945Asp,ENST00000271588,;	6063	130	221	SUCCESS
PTPRC	5788	.	GRCh37	1	198682088	198682088	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	514	19	350	0	ENST00000442510.2:c.1178G>C	p.Gly393Ala	p.G393A	ENST00000442510		393	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS1397.2	1178	MUTECT|MUSE	.	TCCAGGAGAGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF002004,Superfamily_domains:SSF49265	.	.	ENSP00000411355	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.035)	.	tolerated(0.58)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Gly232Ala,ENST00000348564,;PTPRC,missense_variant,p.Gly343Ala,ENST00000352140,;PTPRC,missense_variant,p.Gly393Ala,ENST00000442510,;PTPRC,missense_variant,p.Gly230Ala,ENST00000594404,;PTPRC,missense_variant,p.Gly391Ala,ENST00000367376,;PTPRC,missense_variant,p.Gly279Ala,ENST00000530727,;PTPRC,missense_variant,p.Gly327Ala,ENST00000367367,;PTPRC,downstream_gene_variant,,ENST00000367379,;PTPRC,missense_variant,p.Gly345Ala,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000491302,;	1319	350	534	SUCCESS
DDX59	83479	.	GRCh37	1	200635118	200635118	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	552	19	198	0	ENST00000331314.6:c.751T>A	p.Ser251Thr	p.S251T	ENST00000331314	NM_001031725.4	251	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30964.1	751	MUTECT|MUSE	.	TCCTGAGCCAG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF42,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000330460	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000331314	Transcript	.	.	ENSG00000118197	25360	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DDX59_HUMAN	DDX59	HGNC	Q5T1V5_HUMAN,B7ZBU4_HUMAN,B7ZBU3_HUMAN	.	UPI00001AFE4C	SNV	DDX59,missense_variant,p.Ser251Thr,ENST00000331314,;DDX59,missense_variant,p.Ser251Thr,ENST00000367348,;DDX59,missense_variant,p.Ser251Thr,ENST00000447706,;DDX59,upstream_gene_variant,,ENST00000429498,;DDX59,downstream_gene_variant,,ENST00000436897,;RP11-92G12.3,upstream_gene_variant,,ENST00000568695,;	965	198	571	SUCCESS
KIF21B	23046	.	GRCh37	1	200946358	200946358	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776939102	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	9	41	0	ENST00000422435.2:c.4307G>T	p.Arg1436Leu	p.R1436L	ENST00000422435	NM_001252100.1	1436	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS58056.1	4307	MUTECT|MUSE	.	AGATGCGGACG	NONE	byFrequency	.	PROSITE_profiles:PS50294,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000411831	.	31/35	.	.	.	.	.	.	.	.	rs776939102,COSM1733782	31/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,missense_variant,p.Arg1436Leu,ENST00000422435,;KIF21B,missense_variant,p.Arg1423Leu,ENST00000360529,;KIF21B,missense_variant,p.Arg1436Leu,ENST00000461742,;KIF21B,missense_variant,p.Arg1423Leu,ENST00000332129,;	4624	41	125	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204438107	204438107	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375951229	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	8	74	0	ENST00000367187.3:c.824C>T	p.Ala275Val	p.A275V	ENST00000367187	NM_002646.3	275	gCc/gTc	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS1446.1	824	MUTECT|MUSE	.	TCCTGGCCACG	NONE	byCluster	.	hmmpanther:PTHR10048:SF30,hmmpanther:PTHR10048	.	A:0.0001	ENSP00000356155	.	3/34	.	.	.	.	.	.	.	.	rs375951229	3/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.301)	.	deleterious(0.02)	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,missense_variant,p.Ala275Val,ENST00000367187,;PIK3C2B,missense_variant,p.Ala275Val,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;PIK3C2B,upstream_gene_variant,,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;	1381	74	211	SUCCESS
DYRK3	8444	.	GRCh37	1	206820946	206820946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	361	31	167	0	ENST00000367109.2:c.403G>T	p.Ala135Ser	p.A135S	ENST00000367109	NM_003582.2	135	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS30999.1	403	MUTECT|MUSE	.	CCAAGGCACCC	NONE	.	.	hmmpanther:PTHR24058:SF35,hmmpanther:PTHR24058	.	.	ENSP00000356076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367109	Transcript	.	.	ENSG00000143479	3094	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.74)	.	DYRK3_HUMAN	DYRK3	HGNC	.	.	UPI0000071267	SNV	DYRK3,missense_variant,p.Ala115Ser,ENST00000441486,;DYRK3,missense_variant,p.Ala115Ser,ENST00000367106,;DYRK3,missense_variant,p.Ala115Ser,ENST00000367108,;DYRK3,missense_variant,p.Ala135Ser,ENST00000367109,;DYRK3,intron_variant,,ENST00000489878,;	571	167	392	SUCCESS
LAMB3	3914	.	GRCh37	1	209789918	209789918	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	307	19	179	0	ENST00000356082.4:c.3280C>T	p.Gln1094Ter	p.Q1094*	ENST00000356082	NM_000228.2	1094	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1487.1	3280	MUTECT|MUSE	.	ACTCTGACCCA	NONE	.	.	hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574	.	.	ENSP00000375778	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,stop_gained,p.Gln1094Ter,ENST00000356082,;LAMB3,stop_gained,p.Gln1094Ter,ENST00000391911,;LAMB3,stop_gained,p.Gln1094Ter,ENST00000367030,;LAMB3,downstream_gene_variant,,ENST00000455193,;CAMK1G,downstream_gene_variant,,ENST00000361322,;CAMK1G,downstream_gene_variant,,ENST00000009105,;CAMK1G,downstream_gene_variant,,ENST00000494990,;	3670	179	326	SUCCESS
ALPL	249	.	GRCh37	1	21889674	21889674	+	synonymous_variant	Silent	SNP	C	C	A	rs201342272	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	84	130	0	ENST00000374832.1:c.369C>A	p.Ala123=	p.A123=	ENST00000374832		123	gcC/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS217.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCAATGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF53649,SMART_domains:SM00098,Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF33	A:0	.	ENSP00000363973	A:0	5/12	.	.	.	.	.	.	.	.	rs201342272,COSM3984741	5/12	PASS	ENST00000374840	Transcript	.	A:0.0002	ENSG00000162551	438	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0.001	.	0,1	PPBT_HUMAN	ALPL	HGNC	B1ANL0_HUMAN	.	UPI000013E17C	SNV	ALPL,synonymous_variant,p.%3D,ENST00000374840,;ALPL,synonymous_variant,p.%3D,ENST00000539907,;ALPL,synonymous_variant,p.%3D,ENST00000374832,;ALPL,synonymous_variant,p.%3D,ENST00000425315,;ALPL,synonymous_variant,p.%3D,ENST00000540617,;ALPL,non_coding_transcript_exon_variant,,ENST00000468526,;	619	130	197	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220356254	220356254	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	418	17	251	0	ENST00000358951.2:c.2018G>C	p.Arg673Thr	p.R673T	ENST00000358951	NM_012414.3	673	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS31028.1	2018	MUTECT|MUSE	.	CAAGCCTTAGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12472	.	.	ENSP00000351832	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.316)	.	tolerated(0.54)	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,missense_variant,p.Arg673Thr,ENST00000358951,;RAB3GAP2,downstream_gene_variant,,ENST00000478976,;	2135	251	435	SUCCESS
HHIPL2	79802	.	GRCh37	1	222705320	222705320	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	19	82	0	ENST00000343410.6:c.1711G>C	p.Glu571Gln	p.E571Q	ENST00000343410	NM_024746.3	571	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS1530.2	1711	MUTECT|MUSE	.	ATCTTCAGCAA	NONE	.	.	Superfamily_domains:0046203,Pfam_domain:PF07995,Gene3D:2.120.10.30,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	.	.	ENSP00000342118	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000343410	Transcript	.	.	ENSG00000143512	25842	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	HIPL2_HUMAN	HHIPL2	HGNC	.	.	UPI000004C60D	SNV	HHIPL2,missense_variant,p.Glu571Gln,ENST00000343410,;HHIPL2,non_coding_transcript_exon_variant,,ENST00000468172,;	1770	82	209	SUCCESS
C1orf65	0	.	GRCh37	1	223568584	223568584	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	58	88	1	ENST00000366875.3:c.1767C>T	p.Leu589=	p.L589=	ENST00000366875	NM_152610.2	589	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1537.1	1767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCCCTCA	NONE	.	.	Pfam_domain:PF15558	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,synonymous_variant,p.%3D,ENST00000366875,;	1870	89	193	SUCCESS
WDR26	80232	.	GRCh37	1	224619473	224619473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	8	114	0	ENST00000414423.2:c.433G>T	p.Asp145Tyr	p.D145Y	ENST00000414423	NM_001115113.2	145	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31037.2	433	MUTECT|MUSE	.	GAGATCAACAG	NONE	.	.	hmmpanther:PTHR22838:SF0,hmmpanther:PTHR22838,PROSITE_profiles:PS50896	.	.	ENSP00000408108	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000414423	Transcript	.	.	ENSG00000162923	21208	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.711)	.	deleterious(0)	.	WDR26_HUMAN	WDR26	HGNC	C9JCS7_HUMAN	.	UPI0000203FB7	SNV	WDR26,missense_variant,p.Asp145Tyr,ENST00000414423,;WDR26,missense_variant,p.Asp145Tyr,ENST00000366852,;WDR26,5_prime_UTR_variant,,ENST00000445239,;WDR26,5_prime_UTR_variant,,ENST00000295024,;WDR26,intron_variant,,ENST00000477425,;CNIH3,upstream_gene_variant,,ENST00000483512,;CNIH3,upstream_gene_variant,,ENST00000498126,;CNIH3,upstream_gene_variant,,ENST00000471578,;WDR26,missense_variant,p.Asp137Tyr,ENST00000486652,;WDR26,non_coding_transcript_exon_variant,,ENST00000443112,;WDR26,non_coding_transcript_exon_variant,,ENST00000489825,;WDR26,non_coding_transcript_exon_variant,,ENST00000479778,;	627	114	204	SUCCESS
DNAH14	127602	.	GRCh37	1	225332286	225332286	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	9	72	1	ENST00000445597.2:c.3493C>A	p.Pro1165Thr	p.P1165T	ENST00000445597		1165	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	.	.	1930	MUTECT|MUSE|VARSCANS	.	CCGGTCCAGCT	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF12774,Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF132	.	.	ENSP00000332424	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000328556	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	.	DNAH14	HGNC	H9KV43_HUMAN	.	UPI000198C4F6	SNV	DNAH14,missense_variant,p.Pro644Thr,ENST00000328556,;DNAH14,missense_variant,p.Pro1165Thr,ENST00000445597,;DNAH14,missense_variant,p.Pro1549Thr,ENST00000430092,;DNAH14,missense_variant,p.Pro1549Thr,ENST00000439375,;DNAH14,3_prime_UTR_variant,,ENST00000495456,;	1930	73	111	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227216748	227216748	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs375342151	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	8	34	0	ENST00000334218.5:c.3937G>C	p.Ala1313Pro	p.A1313P	ENST00000334218		1313	Gct/Cct	0	T:0.0002	.	.	.	.	G	A/P	protein_coding	YES	CCDS1558.1	3937	MUTECT|MUSE	.	GAGAGCTCCAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,Pfam_domain:PF00780,SMART_domains:SM00036,Superfamily_domains:0047732	.	T:0	ENSP00000355731	.	29/36	.	.	.	.	.	.	.	.	rs375342151	29/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.39)	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,missense_variant,p.Ala538Pro,ENST00000441725,;CDC42BPA,missense_variant,p.Ala1232Pro,ENST00000366767,;CDC42BPA,missense_variant,p.Ala211Pro,ENST00000429440,;CDC42BPA,missense_variant,p.Ala642Pro,ENST00000442054,;CDC42BPA,missense_variant,p.Ala1313Pro,ENST00000366769,;CDC42BPA,missense_variant,p.Ala1326Pro,ENST00000366765,;CDC42BPA,missense_variant,p.Ala516Pro,ENST00000448940,;CDC42BPA,missense_variant,p.Ala1313Pro,ENST00000334218,;CDC42BPA,missense_variant,p.Ala1285Pro,ENST00000366764,;CDC42BPA,missense_variant,p.Ala1348Pro,ENST00000366766,;CDC42BPA,missense_variant,p.Ala1293Pro,ENST00000535525,;	5229	34	91	SUCCESS
OBSCN	84033	.	GRCh37	1	228474710	228474710	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs558072959	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	22	26	0	ENST00000422127.1:c.9514G>T	p.Ala3172Ser	p.A3172S	ENST00000422127	NM_001098623.2	3172	Gcc/Tcc	0	.	A:0	.	A:0.0014	.	T	A/S	protein_coding	YES	CCDS59204.1	10801	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGCCTGC	NONE	by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	.	ENSP00000455507	A:0	40/116	.	.	.	.	.	.	.	.	rs558072959	40/116	PASS	ENST00000570156	Transcript	.	A:0.0002	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.396)	A:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala291Ser,ENST00000366707,;OBSCN,missense_variant,p.Ala291Ser,ENST00000366709,;OBSCN,missense_variant,p.Ala448Ser,ENST00000483539,;OBSCN,missense_variant,p.Ala3172Ser,ENST00000284548,;OBSCN,missense_variant,p.Ala2019Ser,ENST00000359599,;OBSCN,missense_variant,p.Ala3601Ser,ENST00000570156,;OBSCN,missense_variant,p.Ala3172Ser,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;	10875	26	169	SUCCESS
OBSCN	84033	.	GRCh37	1	228495849	228495849	+	synonymous_variant	Silent	SNP	G	G	T	rs562134549	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	101	103	1	ENST00000422127.1:c.12504G>T	p.Ala4168=	p.A4168=	ENST00000422127	NM_001098623.2	4168	gcG/gcT	0	.	A:0	.	A:0	.	T	A	protein_coding	YES	CCDS59204.1	15375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGGAGGT	NONE	by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0.001	.	ENSP00000455507	A:0	58/116	.	.	.	.	.	.	.	.	rs562134549	58/116	PASS	ENST00000570156	Transcript	.	A:0.0002	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000359599,;OBSCN,downstream_gene_variant,,ENST00000602832,;	15449	104	235	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232650005	232650005	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	6	56	0	ENST00000262861.4:c.1081G>T	p.Ala361Ser	p.A361S	ENST00000262861	NM_020808.3	361	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41474.1	1081	MUTECT|MUSE	.	AGATGCCCCAG	NONE	.	.	hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Ala361Ser,ENST00000366630,;SIPA1L2,missense_variant,p.Ala361Ser,ENST00000262861,;	1440	56	134	SUCCESS
RBM34	23029	.	GRCh37	1	235318339	235318339	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200657743	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	619	52	460	0	ENST00000408888.3:c.454G>T	p.Val152Leu	p.V152L	ENST00000408888		152	Gta/Tta	0	T:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS41477.2	454	MUTECT|MUSE	.	TGCTACTTTAA	NONE	byCluster	.	.	.	T:0.0002	ENSP00000386226	.	4/11	.	.	.	.	.	.	.	.	rs200657743	4/11	PASS	ENST00000408888	Transcript	.	.	ENSG00000188739	28965	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.48)	.	RBM34_HUMAN	RBM34	HGNC	.	.	UPI00001D7E4C	SNV	RBM34,missense_variant,p.Val150Leu,ENST00000447801,;RBM34,missense_variant,p.Val147Leu,ENST00000366606,;RBM34,missense_variant,p.Val152Leu,ENST00000408888,;RBM34,missense_variant,p.Val181Leu,ENST00000429912,;ARID4B,3_prime_UTR_variant,,ENST00000474953,;RBM34,3_prime_UTR_variant,,ENST00000474086,;RBM34,non_coding_transcript_exon_variant,,ENST00000476261,;RBM34,non_coding_transcript_exon_variant,,ENST00000468751,;RBM34,downstream_gene_variant,,ENST00000475960,;	685	460	671	SUCCESS
ZP4	57829	.	GRCh37	1	238048491	238048491	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	65	128	0	ENST00000366570.4:c.1285G>T	p.Val429Leu	p.V429L	ENST00000366570	NM_021186.3	429	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS1615.1	1285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACTGTAG	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034	.	.	ENSP00000355529	.	9/12	.	.	.	.	.	.	.	.	COSM464215	9/12	PASS	ENST00000366570	Transcript	.	.	ENSG00000116996	15770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.24)	1	ZP4_HUMAN	ZP4	HGNC	.	.	UPI000006F0E4	SNV	ZP4,missense_variant,p.Val429Leu,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	1444	128	264	SUCCESS
CHRM3	1131	.	GRCh37	1	240071656	240071656	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202097685	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	30	58	0	ENST00000255380.4:c.905G>T	p.Arg302Leu	p.R302L	ENST00000255380	NM_000740.2	302	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1616.1	905	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAAACGCTCCA	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Pfam_domain:PF00001,Prints_domain:PR00540	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	rs202097685	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.09)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Arg302Leu,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	1684	58	183	SUCCESS
EXO1	9156	.	GRCh37	1	242045224	242045224	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	548	17	351	0	ENST00000348581.5:c.2116G>A	p.Asp706Asn	p.D706N	ENST00000348581	NM_003686.4	706	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1620.1	2116	MUTECT|MUSE	.	AATCTGATTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.06)	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Asp706Asn,ENST00000348581,;EXO1,missense_variant,p.Asp706Asn,ENST00000518483,;EXO1,missense_variant,p.Asp706Asn,ENST00000366548,;EXO1,intron_variant,,ENST00000521202,;EXO1,upstream_gene_variant,,ENST00000518741,;	2709	351	565	SUCCESS
CEP170	9859	.	GRCh37	1	243327863	243327876	+	frameshift_variant	Frame_Shift_Del	DEL	AGAACTTGTTGTGG	AGAACTTGTTGTGG	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	AGAACTTGTTGTGG	AGAACTTGTTGTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	435	43	325	0	ENST00000366542.1:c.3386_3399del	p.Ser1129TyrfsTer10	p.S1129Yfs*10	ENST00000366542	NM_014812.2	1129	tCCACAACAAGTTCT/t	0	.	.	.	.	.	-	STTSS/X	protein_coding	YES	CCDS44339.1	3386-3399	INDELOCATOR|VARSCANI	.	TGATGTAGAACTTGTTGTGGATACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,Pfam_domain:PF15308	.	.	ENSP00000355500	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000366542	Transcript	.	.	ENSG00000143702	28920	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE170_HUMAN	CEP170	HGNC	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN	.	UPI0000470238	deletion	CEP170,frameshift_variant,p.Ser1093TyrfsTer10,ENST00000336415,;CEP170,frameshift_variant,p.Ser1031TyrfsTer10,ENST00000366544,;CEP170,frameshift_variant,p.Ser1031TyrfsTer10,ENST00000366543,;CEP170,frameshift_variant,p.Ser1129TyrfsTer10,ENST00000366542,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,upstream_gene_variant,,ENST00000422938,;RP11-261C10.4,upstream_gene_variant,,ENST00000437499,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000451408,;	3438-3451	325	478	SUCCESS
SCCPDH	51097	.	GRCh37	1	246923373	246923373	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	822	24	654	0	ENST00000366510.3:c.928A>T	p.Ile310Leu	p.I310L	ENST00000366510	NM_016002.2	310	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS31084.1	928	MUTECT|MUSE	.	TTCTCATAAAA	NONE	.	.	hmmpanther:PTHR12286,hmmpanther:PTHR12286:SF4,Pfam_domain:PF03435	.	.	ENSP00000355467	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000366510	Transcript	.	.	ENSG00000143653	24275	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	SCPDL_HUMAN	SCCPDH	HGNC	.	.	UPI00000350AB	SNV	SCCPDH,missense_variant,p.Ile310Leu,ENST00000366510,;RP11-439E19.6,upstream_gene_variant,,ENST00000413092,;	1304	654	846	SUCCESS
OR2B11	127623	.	GRCh37	1	247615107	247615107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	8	118	0	ENST00000318749.6:c.178C>A	p.His60Asn	p.H60N	ENST00000318749	NM_001004492.1	60	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS31090.1	178	MUTECT|MUSE	.	GCTGTGGAGTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	deleterious(0.03)	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,missense_variant,p.His60Asn,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	202	118	208	SUCCESS
OR2B11	127623	.	GRCh37	1	247615108	247615108	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	8	117	0	ENST00000318749.6:c.177C>A	p.Leu59=	p.L59=	ENST00000318749	NM_001004492.1	59	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31090.1	177	MUTECT|MUSE	.	CTGTGGAGTTG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,synonymous_variant,p.%3D,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	201	117	207	SUCCESS
FAM213B	0	.	GRCh37	1	2520399	2520399	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	28	59	0	ENST00000419916.2:c.589C>G	p.Pro197Ala	p.P197A	ENST00000419916	NM_152371.3	197	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS44.2	589	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCCCAGGC	NONE	.	.	.	.	.	ENSP00000394405	.	6/7	.	.	.	.	.	.	.	.	COSM178376	6/7	PASS	ENST00000419916	Transcript	.	.	ENSG00000157870	28390	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.835)	.	tolerated(0.18)	1	.	FAM213B	HGNC	J3KQD0_HUMAN	.	UPI0001E306A4	SNV	FAM213B,missense_variant,p.Pro185Ala,ENST00000444521,;FAM213B,missense_variant,p.Pro160Ala,ENST00000537325,;FAM213B,missense_variant,p.Pro197Ala,ENST00000419916,;FAM213B,missense_variant,p.Pro186Arg,ENST00000378427,;FAM213B,missense_variant,p.Pro167Ala,ENST00000378425,;FAM213B,missense_variant,p.Pro204Arg,ENST00000378424,;FAM213B,synonymous_variant,p.%3D,ENST00000465233,;FAM213B,synonymous_variant,p.%3D,ENST00000498083,;MMEL1,downstream_gene_variant,,ENST00000378412,;MMEL1,downstream_gene_variant,,ENST00000471840,;MMEL1,downstream_gene_variant,,ENST00000502556,;MMEL1,downstream_gene_variant,,ENST00000288709,;RP3-395M20.9,downstream_gene_variant,,ENST00000424215,;FAM213B,non_coding_transcript_exon_variant,,ENST00000464043,;FAM213B,non_coding_transcript_exon_variant,,ENST00000493183,;FAM213B,non_coding_transcript_exon_variant,,ENST00000481683,;FAM213B,non_coding_transcript_exon_variant,,ENST00000484099,;FAM213B,non_coding_transcript_exon_variant,,ENST00000474659,;FAM213B,non_coding_transcript_exon_variant,,ENST00000476686,;FAM213B,downstream_gene_variant,,ENST00000477045,;MMEL1,downstream_gene_variant,,ENST00000491941,;MMEL1,downstream_gene_variant,,ENST00000504800,;MMEL1,downstream_gene_variant,,ENST00000469962,;MMEL1,downstream_gene_variant,,ENST00000464195,;	610	59	148	SUCCESS
MMEL1	79258	.	GRCh37	1	2535696	2535696	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	23	116	0	ENST00000378412.3:c.841A>G	p.Met281Val	p.M281V	ENST00000378412		281	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS30569.2	841	RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGAACT	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF112,Pfam_domain:PF05649,Superfamily_domains:SSF55486	.	.	ENSP00000367668	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000378412	Transcript	.	.	ENSG00000142606	14668	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	MMEL1_HUMAN	MMEL1	HGNC	.	.	UPI0000047596	SNV	MMEL1,missense_variant,p.Met272Val,ENST00000288709,;MMEL1,missense_variant,p.Met281Val,ENST00000378412,;MMEL1,intron_variant,,ENST00000502556,;MMEL1,missense_variant,p.Met281Val,ENST00000504800,;MMEL1,downstream_gene_variant,,ENST00000509374,;	1003	116	207	SUCCESS
SYF2	25949	.	GRCh37	1	25558651	25558651	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	66	0	ENST00000236273.4:c.76G>T	p.Ala26Ser	p.A26S	ENST00000236273	NM_015484.4	26	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS259.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13264,hmmpanther:PTHR13264:SF5	.	.	ENSP00000236273	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000236273	Transcript	.	.	ENSG00000117614	19824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	tolerated(0.22)	.	SYF2_HUMAN	SYF2	HGNC	.	.	UPI0000073D39	SNV	SYF2,missense_variant,p.Ala26Ser,ENST00000354361,;SYF2,missense_variant,p.Ala26Ser,ENST00000236273,;SYF2,non_coding_transcript_exon_variant,,ENST00000476231,;SYF2,non_coding_transcript_exon_variant,,ENST00000474160,;	102	67	99	SUCCESS
ARID1A	8289	.	GRCh37	1	27087894	27087898	+	frameshift_variant	Frame_Shift_Del	DEL	GCCAC	GCCAC	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	GCCAC	GCCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	253	29	271	0	ENST00000324856.7:c.2181_2185del	p.Pro728GlnfsTer87	p.P728Qfs*87	ENST00000324856	NM_006015.4	727	cgGCCACcc/cgcc	0	.	.	.	.	.	-	RPP/RX	protein_coding	YES	CCDS285.1	2181-2185	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTCGGCCACCCAGT	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Pro728GlnfsTer87,ENST00000457599,;ARID1A,frameshift_variant,p.Pro345GlnfsTer87,ENST00000374152,;ARID1A,frameshift_variant,p.Pro728GlnfsTer87,ENST00000324856,;RN7SL501P,upstream_gene_variant,,ENST00000578818,;ARID1A,upstream_gene_variant,,ENST00000430291,;	2552-2556	271	282	SUCCESS
WASF2	10163	.	GRCh37	1	27739169	27739169	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1246146048	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	18	167	1	ENST00000430629.2:c.721G>A	p.Val241Met	p.V241M	ENST00000430629	NM_006990.3	241	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS304.1	721	MUTECT|MUSE|VARSCANS	.	ATCCACGTTTT	NONE	.	.	hmmpanther:PTHR12902:SF6,hmmpanther:PTHR12902	.	.	ENSP00000396211	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000430629	Transcript	.	.	ENSG00000158195	12733	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated(0.39)	.	WASF2_HUMAN	WASF2	HGNC	Q8NBU0_HUMAN,B4E3J5_HUMAN	.	UPI0000000D74	SNV	WASF2,missense_variant,p.Val241Met,ENST00000430629,;WASF2,missense_variant,p.Val241Met,ENST00000536657,;	937	168	197	SUCCESS
PHACTR4	65979	.	GRCh37	1	28800595	28800595	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs746855923	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	11	106	0	ENST00000373839.3:c.1353C>G	p.Ser451Arg	p.S451R	ENST00000373839	NM_001048183.1	451	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS41294.1	1383	MUTECT|MUSE|VARSCANS	.	GACAGCTTTTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4	.	.	ENSP00000362942	.	6/13	.	.	.	.	.	.	.	.	rs746855923	6/13	PASS	ENST00000373836	Transcript	.	.	ENSG00000204138	25793	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.272)	.	tolerated(0.12)	.	PHAR4_HUMAN	PHACTR4	HGNC	.	.	UPI0000374EB3	SNV	PHACTR4,missense_variant,p.Ser461Arg,ENST00000373836,;PHACTR4,missense_variant,p.Ser451Arg,ENST00000373839,;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;	1597	106	133	SUCCESS
ACTRT2	140625	.	GRCh37	1	2938475	2938475	+	synonymous_variant	Silent	SNP	C	C	T	rs144521527	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	87	0	ENST00000378404.2:c.225C>T	p.Phe75=	p.F75=	ENST00000378404	NM_080431.4	75	ttC/ttT	0	T:0.0002	.	.	.	.	T	F	protein_coding	YES	CCDS45.1	225	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCGAGCG	NONE	byCluster	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	T:0.0001	ENSP00000367658	.	1/1	.	.	.	.	.	.	.	.	rs144521527	1/1	PASS	ENST00000378404	Transcript	.	.	ENSG00000169717	24026	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACTT2_HUMAN	ACTRT2	HGNC	.	.	UPI0000070494	SNV	ACTRT2,synonymous_variant,p.%3D,ENST00000378404,;	430	87	84	SUCCESS
PRDM16	63976	.	GRCh37	1	3342300	3342300	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	7	42	0	ENST00000270722.5:c.3095A>T	p.His1032Leu	p.H1032L	ENST00000270722		1032	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS41236.2	3095	MUTECT|MUSE	.	CGAGCACGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000270722	.	13/17	.	.	.	.	.	.	.	.	COSM3984986	13/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.097)	.	tolerated(0.09)	1	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.His1031Leu,ENST00000441472,;PRDM16,missense_variant,p.His1032Leu,ENST00000514189,;PRDM16,missense_variant,p.His840Leu,ENST00000509860,;PRDM16,missense_variant,p.His1032Leu,ENST00000270722,;PRDM16,missense_variant,p.His1031Leu,ENST00000442529,;PRDM16,missense_variant,p.His1033Leu,ENST00000511072,;PRDM16,missense_variant,p.His1032Leu,ENST00000378398,;PRDM16,missense_variant,p.His1032Leu,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000378389,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;PRDM16,non_coding_transcript_exon_variant,,ENST00000606170,;	3144	42	116	SUCCESS
EVA1B	55194	.	GRCh37	1	36788575	36788575	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748202520	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	18	111	0	ENST00000270824.1:c.64C>G	p.Arg22Gly	p.R22G	ENST00000270824	NM_018166.1	22	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS406.1	64	MUTECT|MUSE|VARSCANS	.	ACCGCGGATGT	NONE	.	.	Pfam_domain:PF14851	.	.	ENSP00000270824	.	2/3	.	.	.	.	.	.	.	.	rs748202520	2/3	PASS	ENST00000270824	Transcript	.	.	ENSG00000142694	25558	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.992)	.	tolerated(0.18)	.	EVA1B_HUMAN	EVA1B	HGNC	.	.	UPI0000072429	SNV	EVA1B,missense_variant,p.Arg22Gly,ENST00000270824,;SH3D21,downstream_gene_variant,,ENST00000505871,;SH3D21,downstream_gene_variant,,ENST00000426732,;RP11-268J15.5,upstream_gene_variant,,ENST00000373137,;SH3D21,downstream_gene_variant,,ENST00000312808,;SH3D21,downstream_gene_variant,,ENST00000373139,;SH3D21,downstream_gene_variant,,ENST00000453908,;EVA1B,non_coding_transcript_exon_variant,,ENST00000490466,;SH3D21,intron_variant,,ENST00000474766,;SH3D21,downstream_gene_variant,,ENST00000508854,;SH3D21,intron_variant,,ENST00000480549,;	356	111	197	SUCCESS
SF3A3	10946	.	GRCh37	1	38453345	38453345	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372195588	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	143	0	ENST00000373019.4:c.203G>A	p.Arg68Gln	p.R68Q	ENST00000373019	NM_006802.2	68	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS428.1	203	MUTECT|MUSE	.	CCTTTCGTAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF2	.	T:0.0001	ENSP00000362110	.	4/17	.	.	.	.	.	.	.	.	rs372195588	4/17	PASS	ENST00000373019	Transcript	.	.	ENSG00000183431	10767	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SF3A3_HUMAN	SF3A3	HGNC	.	.	UPI0000135469	SNV	SF3A3,missense_variant,p.Arg68Gln,ENST00000373019,;SF3A3,intron_variant,,ENST00000448721,;RNU6-510P,upstream_gene_variant,,ENST00000391239,;SF3A3,non_coding_transcript_exon_variant,,ENST00000462258,;SF3A3,non_coding_transcript_exon_variant,,ENST00000489537,;SF3A3,intron_variant,,ENST00000470585,;SF3A3,intron_variant,,ENST00000461869,;	1159	143	152	SUCCESS
CLDN19	149461	.	GRCh37	1	43201511	43201511	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	53	0	ENST00000296387.1:c.626+38C>A		p.*209*	ENST00000296387	NM_001123395.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS471.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGTGGGG	NONE	.	.	.	.	.	ENSP00000296387	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296387	Transcript	.	.	ENSG00000164007	2040	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD19_HUMAN	CLDN19	HGNC	.	.	UPI000013E32D	SNV	CLDN19,missense_variant,p.His193Gln,ENST00000539749,;CLDN19,3_prime_UTR_variant,,ENST00000372539,;CLDN19,intron_variant,,ENST00000296387,;	.	53	78	SUCCESS
MAST2	23139	.	GRCh37	1	46488584	46488584	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs375425588	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	14	252	0	ENST00000361297.2:c.1426A>G	p.Met476Val	p.M476V	ENST00000361297	NM_015112.2	476	Atg/Gtg	0	G:0	.	.	.	.	G	M/V	protein_coding	YES	CCDS41326.1	1426	MUTECT|MUSE	.	CAGAAATGGCC	NONE	.	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356,Pfam_domain:PF08926	.	G:0.0001	ENSP00000354671	.	13/29	.	.	.	.	.	.	.	.	rs375425588	13/29	PASS	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.2)	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,missense_variant,p.Met476Val,ENST00000361297,;MAST2,missense_variant,p.Met406Val,ENST00000372009,;MAST2,missense_variant,p.Met361Val,ENST00000372008,;MAST2,splice_region_variant,,ENST00000467367,;MAST2,non_coding_transcript_exon_variant,,ENST00000498668,;	1709	252	182	SUCCESS
NRD1	0	.	GRCh37	1	52254983	52254983	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	44	152	0	ENST00000354831.7:c.3585T>C	p.Cys1195=	p.C1195=	ENST00000354831	NM_002525.2	1195	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS559.1	3585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATACAATC	NONE	.	.	.	.	.	ENSP00000346890	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,synonymous_variant,p.%3D,ENST00000440943,;NRD1,synonymous_variant,p.%3D,ENST00000354831,;NRD1,synonymous_variant,p.%3D,ENST00000352171,;NRD1,synonymous_variant,p.%3D,ENST00000539524,;OSBPL9,downstream_gene_variant,,ENST00000428468,;OSBPL9,downstream_gene_variant,,ENST00000371710,;OSBPL9,downstream_gene_variant,,ENST00000447887,;OSBPL9,downstream_gene_variant,,ENST00000486942,;OSBPL9,downstream_gene_variant,,ENST00000337809,;OSBPL9,downstream_gene_variant,,ENST00000435686,;OSBPL9,downstream_gene_variant,,ENST00000371714,;OSBPL9,downstream_gene_variant,,ENST00000361556,;OSBPL9,downstream_gene_variant,,ENST00000530544,;OSBPL9,downstream_gene_variant,,ENST00000531828,;OSBPL9,downstream_gene_variant,,ENST00000453295,;OSBPL9,downstream_gene_variant,,ENST00000462759,;RP4-657D16.3,upstream_gene_variant,,ENST00000588291,;RP4-657D16.3,upstream_gene_variant,,ENST00000586761,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000464385,;OSBPL9,downstream_gene_variant,,ENST00000531819,;OSBPL9,downstream_gene_variant,,ENST00000495776,;OSBPL9,downstream_gene_variant,,ENST00000475697,;OSBPL9,downstream_gene_variant,,ENST00000435274,;	3775	152	136	SUCCESS
C8A	731	.	GRCh37	1	57349332	57349339	+	frameshift_variant	Frame_Shift_Del	DEL	AATTAAAC	AATTAAAC	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	AATTAAAC	AATTAAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	56	0	ENST00000361249.3:c.835_842del	p.Leu279ValfsTer2	p.L279Vfs*2	ENST00000361249	NM_000562.2	278	gAATTAAAC/g	0	.	.	.	.	.	-	ELN/X	protein_coding	YES	CCDS606.1	833-840	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAACGAATTAAACAAGTA	CODON|p.E278K|c.832G>A|5	.	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF338,hmmpanther:PTHR19325,Pfam_domain:PF01823	.	.	ENSP00000354458	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	deletion	C8A,frameshift_variant,p.Leu279ValfsTer2,ENST00000361249,;	929-936	56	57	SUCCESS
PDE4B	5142	.	GRCh37	1	66723358	66723358	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	19	237	0	ENST00000329654.4:c.505T>G	p.Phe169Val	p.F169V	ENST00000329654	NM_001037341.1	169	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS632.1	505	MUTECT|MUSE|VARSCANS	.	CTCCTTTTGCC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF90	.	.	ENSP00000332116	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000329654	Transcript	.	.	ENSG00000184588	8781	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.698)	.	deleterious(0)	.	PDE4B_HUMAN	PDE4B	HGNC	E9PR34_HUMAN,E9PNB0_HUMAN,E9PJ03_HUMAN	.	UPI0000127BF6	SNV	PDE4B,missense_variant,p.Phe169Val,ENST00000341517,;PDE4B,missense_variant,p.Phe169Val,ENST00000371049,;PDE4B,missense_variant,p.Phe169Val,ENST00000329654,;PDE4B,missense_variant,p.Phe77Val,ENST00000412480,;PDE4B,missense_variant,p.Phe154Val,ENST00000423207,;PDE4B,missense_variant,p.Phe11Val,ENST00000491340,;PDE4B,non_coding_transcript_exon_variant,,ENST00000371048,;PDE4B,non_coding_transcript_exon_variant,,ENST00000490695,;	692	237	216	SUCCESS
FPGT	8790	.	GRCh37	1	74671212	74671212	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774351798	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	9	189	0	ENST00000609362.1:c.1481G>T	p.Gly494Val	p.G494V	ENST00000609362		494	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	1481	MUTECT|MUSE	.	CTTTGGAGTCT	NONE	byFrequency	.	hmmpanther:PTHR15045,Pfam_domain:PF07959,PIRSF_domain:PIRSF036640	.	.	ENSP00000476680	.	4/4	.	.	.	.	.	.	.	.	rs774351798	4/4	PASS	ENST00000609362	Transcript	.	.	ENSG00000254685	3825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	FPGT	HGNC	.	.	UPI000013D402	SNV	FPGT,missense_variant,p.Gly507Val,ENST00000370898,;FPGT,missense_variant,p.Gly240Val,ENST00000534056,;FPGT,missense_variant,p.Gly494Val,ENST00000609362,;FPGT,3_prime_UTR_variant,,ENST00000370894,;FPGT-TNNI3K,intron_variant,,ENST00000370895,;FPGT-TNNI3K,intron_variant,,ENST00000370893,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT-TNNI3K,intron_variant,,ENST00000370899,;TNNI3K,intron_variant,,ENST00000370891,;FPGT-TNNI3K,intron_variant,,ENST00000557284,;FPGT,downstream_gene_variant,,ENST00000482102,;FPGT,downstream_gene_variant,,ENST00000467578,;FPGT,downstream_gene_variant,,ENST00000472069,;FPGT,intron_variant,,ENST00000524915,;FPGT-TNNI3K,intron_variant,,ENST00000533006,;FPGT,downstream_gene_variant,,ENST00000529485,;	1518	189	172	SUCCESS
H6PD	9563	.	GRCh37	1	9305494	9305494	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs559063919	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	36	0	ENST00000377403.2:c.501G>A	p.Trp167Ter	p.W167*	ENST00000377403	NM_004285.3	167	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS101.1	501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGCTGCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23429:SF2,hmmpanther:PTHR23429,Gene3D:3.40.50.720,Pfam_domain:PF00479,Superfamily_domains:SSF51735	.	.	ENSP00000366620	.	2/5	.	.	.	.	.	.	.	.	rs559063919	2/5	PASS	ENST00000377403	Transcript	.	.	ENSG00000049239	4795	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G6PE_HUMAN	H6PD	HGNC	.	.	UPI000013C9AD	SNV	H6PD,stop_gained,p.Trp178Ter,ENST00000602477,;H6PD,stop_gained,p.Trp167Ter,ENST00000377403,;	803	36	60	SUCCESS
SIRPD	128646	.	GRCh37	20	1532400	1532400	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	18	97	0	ENST00000381623.3:c.358T>C	p.Phe120Leu	p.F120L	ENST00000381623		120	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS13018.1	358	RADIA|MUTECT|MUSE|VARSCANS	.	TATGAACTTCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF8,hmmpanther:PTHR19971	.	.	ENSP00000371036	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000381623	Transcript	.	.	ENSG00000125900	16248	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.306)	.	tolerated(0.08)	.	SIRPD_HUMAN	SIRPD	HGNC	.	.	UPI000013CBD7	SNV	SIRPD,missense_variant,p.Phe120Leu,ENST00000381621,;SIRPD,missense_variant,p.Phe120Leu,ENST00000381623,;SIRPD,intron_variant,,ENST00000429387,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,downstream_gene_variant,,ENST00000567028,;RP4-576H24.4,downstream_gene_variant,,ENST00000564763,;RP4-576H24.2,non_coding_transcript_exon_variant,,ENST00000453770,;	1548	97	150	SUCCESS
KIF16B	55614	.	GRCh37	20	16316592	16316592	+	synonymous_variant	Silent	SNP	T	T	C	rs370943548	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	74	0	ENST00000354981.2:c.3690A>G	p.Thr1230=	p.T1230=	ENST00000354981	NM_024704.4	1230	acA/acG	0	C:0.0002	.	.	.	.	C	T	protein_coding	.	.	1245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATGTTTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50195,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	C:0	ENSP00000367242	.	23/25	.	.	.	.	.	.	.	.	rs370943548	23/25	PASS	ENST00000378003	Transcript	.	.	ENSG00000089177	15869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KIF16B	HGNC	J3QSY7_HUMAN	.	UPI00015DF867	SNV	KIF16B,synonymous_variant,p.%3D,ENST00000378003,;KIF16B,synonymous_variant,p.%3D,ENST00000354981,;KIF16B,intron_variant,,ENST00000355755,;	3725	74	60	SUCCESS
GZF1	64412	.	GRCh37	20	23345190	23345190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	14	127	0	ENST00000338121.5:c.170G>A	p.Ser57Asn	p.S57N	ENST00000338121		57	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS13151.1	170	RADIA|MUTECT|MUSE|VARSCANS	.	CACCAGCAAGT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097	.	.	ENSP00000338290	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000338121	Transcript	.	.	ENSG00000125812	15808	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GZF1_HUMAN	GZF1	HGNC	Q5JXG1_HUMAN,F5H2R0_HUMAN,B4DF58_HUMAN	.	UPI000013C35D	SNV	GZF1,missense_variant,p.Ser57Asn,ENST00000377051,;GZF1,missense_variant,p.Ser57Asn,ENST00000338121,;GZF1,intron_variant,,ENST00000544236,;GZF1,intron_variant,,ENST00000542987,;GZF1,downstream_gene_variant,,ENST00000424216,;GZF1,upstream_gene_variant,,ENST00000477239,;GZF1,upstream_gene_variant,,ENST00000461789,;	247	128	104	SUCCESS
BPIFA1	51297	.	GRCh37	20	31825552	31825552	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	91	0	ENST00000354297.4:c.35G>A	p.Gly12Glu	p.G12E	ENST00000354297	NM_130852.2	12	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS13217.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGGGCTGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70	.	.	ENSP00000346251	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000354297	Transcript	.	.	ENSG00000198183	15749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	deleterious(0.01)	.	BPIA1_HUMAN	BPIFA1	HGNC	A6XMV5_HUMAN	.	UPI0000048F11	SNV	BPIFA1,missense_variant,p.Gly12Glu,ENST00000375413,;BPIFA1,missense_variant,p.Gly12Glu,ENST00000375422,;BPIFA1,missense_variant,p.Gly12Glu,ENST00000354297,;AL121901.1,downstream_gene_variant,,ENST00000601172,;	106	91	84	SUCCESS
TRPC4AP	26133	.	GRCh37	20	33598060	33598060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	19	213	0	ENST00000252015.2:c.1441C>G	p.Leu481Val	p.L481V	ENST00000252015		481	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS13246.1	1441	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Pfam_domain:PF12463	.	.	ENSP00000252015	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000252015	Transcript	.	.	ENSG00000100991	16181	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.519)	.	deleterious(0.02)	.	TP4AP_HUMAN	TRPC4AP	HGNC	.	.	UPI000004FADD	SNV	TRPC4AP,missense_variant,p.Leu83Val,ENST00000539834,;TRPC4AP,missense_variant,p.Leu473Val,ENST00000451813,;TRPC4AP,missense_variant,p.Leu481Val,ENST00000252015,;TRPC4AP,missense_variant,p.Leu442Val,ENST00000432634,;	1531	213	209	SUCCESS
ERGIC3	51614	.	GRCh37	20	34130635	34130635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	23	106	1	ENST00000348547.2:c.312C>A	p.Phe104Leu	p.F104L	ENST00000348547	NM_015966.2	104	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS13258.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCAAGCA	NONE	.	.	hmmpanther:PTHR10984,hmmpanther:PTHR10984:SF25	.	.	ENSP00000349970	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000357394	Transcript	.	.	ENSG00000125991	15927	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.06)	.	ERGI3_HUMAN	ERGIC3	HGNC	.	.	UPI000013CBE0	SNV	ERGIC3,missense_variant,p.Phe106Leu,ENST00000413587,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000357394,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000447986,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000348547,;ERGIC3,missense_variant,p.Phe103Leu,ENST00000416206,;ERGIC3,missense_variant,p.Phe98Leu,ENST00000411577,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000279052,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000486268,;ERGIC3,upstream_gene_variant,,ENST00000482338,;ERGIC3,upstream_gene_variant,,ENST00000489071,;ERGIC3,missense_variant,p.Phe104Leu,ENST00000438317,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000496172,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000461043,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000492184,;ERGIC3,non_coding_transcript_exon_variant,,ENST00000476926,;RPL36P4,downstream_gene_variant,,ENST00000456725,;	372	107	198	SUCCESS
RALGAPB	57148	.	GRCh37	20	37154091	37154091	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	318	13	444	0	ENST00000262879.6:c.1832G>C	p.Arg611Pro	p.R611P	ENST00000262879		611	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS13305.1	1832	MUTECT|MUSE	.	ATTGCGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21344	.	.	ENSP00000262879	.	12/30	.	.	.	.	.	.	.	.	COSM577473	12/30	PASS	ENST00000262879	Transcript	.	.	ENSG00000170471	29221	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	RLGPB_HUMAN	RALGAPB	HGNC	Q6MZJ2_HUMAN	.	UPI000000DBFD	SNV	RALGAPB,missense_variant,p.Arg389Pro,ENST00000397038,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000397040,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000397042,;RALGAPB,missense_variant,p.Arg611Pro,ENST00000262879,;RALGAPB,missense_variant,p.Arg439Pro,ENST00000438490,;RALGAPB,downstream_gene_variant,,ENST00000537204,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;	2116	444	331	SUCCESS
PLCG1	5335	.	GRCh37	20	39792450	39792451	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	171	18	125	0	ENST00000373271.1:c.988dup	p.Trp330LeufsTer18	p.W330Lfs*18	ENST00000373271	NM_182811.1	329	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13313.1	987-988	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTACTGGAT	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,Gene3D:3.20.20.190,Pfam_domain:PF00388,PIRSF_domain:PIRSF000952,SMART_domains:SM00148,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000362369	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000373272	Transcript	.	.	ENSG00000124181	9065	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCG1_HUMAN	PLCG1	HGNC	.	.	UPI00001B94DD	insertion	PLCG1,frameshift_variant,p.Trp330LeufsTer18,ENST00000373272,;PLCG1,frameshift_variant,p.Trp330LeufsTer18,ENST00000244007,;PLCG1,frameshift_variant,p.Trp330LeufsTer18,ENST00000373271,;PLCG1,upstream_gene_variant,,ENST00000473632,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,non_coding_transcript_exon_variant,,ENST00000470528,;PLCG1,non_coding_transcript_exon_variant,,ENST00000492148,;PLCG1,downstream_gene_variant,,ENST00000490253,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,upstream_gene_variant,,ENST00000477870,;	1392-1393	125	189	SUCCESS
ADRA1D	146	.	GRCh37	20	4202228	4202228	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371559421	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	14	75	0	ENST00000379453.4:c.1661C>A	p.Ala554Asp	p.A554D	ENST00000379453	NM_000678.3	554	gCc/gAc	0	C:0	.	.	.	.	T	A/D	protein_coding	YES	CCDS13079.1	1661	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGCGCCC	NONE	byCluster	.	Prints_domain:PR00240	.	C:0.0001	ENSP00000368766	.	2/2	.	.	.	.	.	.	.	.	rs371559421	2/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.022)	.	tolerated_low_confidence(0.09)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.Ala554Asp,ENST00000379453,;	1778	75	101	SUCCESS
ADRA1D	146	.	GRCh37	20	4202229	4202229	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1195126550	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	15	72	0	ENST00000379453.4:c.1660G>A	p.Ala554Thr	p.A554T	ENST00000379453	NM_000678.3	554	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13079.1	1660	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCGCCCT	NONE	.	.	Prints_domain:PR00240	.	.	ENSP00000368766	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.63)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.Ala554Thr,ENST00000379453,;	1777	72	98	SUCCESS
ELMO2	63916	.	GRCh37	20	45004003	45004003	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	13	149	0	ENST00000290246.6:c.937A>G	p.Arg313Gly	p.R313G	ENST00000290246	NM_133171.3	313	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS13398.1	937	MUTECT|MUSE	.	GTCCCTTTGAG	NONE	.	.	PROSITE_profiles:PS51335,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF8,Pfam_domain:PF04727	.	.	ENSP00000290246	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000290246	Transcript	.	.	ENSG00000062598	17233	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.901)	.	deleterious(0.01)	.	ELMO2_HUMAN	ELMO2	HGNC	Q7Z5G9_HUMAN,Q5JVZ4_HUMAN,Q5BLP5_HUMAN,F5GZP8_HUMAN	.	UPI000013F6C4	SNV	ELMO2,missense_variant,p.Arg45Gly,ENST00000454865,;ELMO2,missense_variant,p.Arg325Gly,ENST00000439931,;ELMO2,missense_variant,p.Arg225Gly,ENST00000372176,;ELMO2,missense_variant,p.Arg313Gly,ENST00000396391,;ELMO2,missense_variant,p.Arg313Gly,ENST00000450812,;ELMO2,missense_variant,p.Arg130Gly,ENST00000445496,;ELMO2,missense_variant,p.Arg101Gly,ENST00000425546,;ELMO2,missense_variant,p.Arg313Gly,ENST00000290246,;ELMO2,missense_variant,p.Arg311Gly,ENST00000352077,;ELMO2,upstream_gene_variant,,ENST00000452857,;ELMO2,non_coding_transcript_exon_variant,,ENST00000481852,;ELMO2,non_coding_transcript_exon_variant,,ENST00000488853,;ELMO2,non_coding_transcript_exon_variant,,ENST00000462491,;ELMO2,upstream_gene_variant,,ENST00000464448,;ELMO2,downstream_gene_variant,,ENST00000480042,;ELMO2,missense_variant,p.Arg38Gly,ENST00000467800,;	1132	149	157	SUCCESS
ATP9A	10079	.	GRCh37	20	50346419	50346419	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	11	79	0	ENST00000338821.5:c.167A>T	p.Asn56Ile	p.N56I	ENST00000338821	NM_006045.1	56	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS33489.1	167	MUTECT|MUSE|VARSCANS	.	TGACATTCCGA	NONE	.	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000342481	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Asn56Ile,ENST00000338821,;ATP9A,missense_variant,p.Asn56Ile,ENST00000402822,;ATP9A,missense_variant,p.Asn41Ile,ENST00000311637,;ATP9A,non_coding_transcript_exon_variant,,ENST00000477492,;RP5-827A12.2,upstream_gene_variant,,ENST00000400354,;	432	79	122	SUCCESS
BMP7	655	.	GRCh37	20	55840845	55840845	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755895161	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	14	39	0	ENST00000395863.3:c.334A>T	p.Ser112Cys	p.S112C	ENST00000395863	NM_001719.2	112	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS13455.1	334	RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTGAAGA	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00688	.	.	ENSP00000379204	.	1/7	.	.	.	.	.	.	.	.	rs755895161	1/7	PASS	ENST00000395863	Transcript	.	.	ENSG00000101144	1074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.799)	.	deleterious(0.01)	.	BMP7_HUMAN	BMP7	HGNC	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN	.	UPI00000349AD	SNV	BMP7,missense_variant,p.Ser112Cys,ENST00000395863,;BMP7,missense_variant,p.Ser112Cys,ENST00000450594,;BMP7,missense_variant,p.Ser112Cys,ENST00000395864,;BMP7,upstream_gene_variant,,ENST00000433911,;RP4-813D12.3,upstream_gene_variant,,ENST00000412321,;RP4-813D12.3,upstream_gene_variant,,ENST00000426580,;	840	39	99	SUCCESS
STX16	8675	.	GRCh37	20	57246217	57246217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	5	93	0	ENST00000371141.4:c.656C>A	p.Thr219Lys	p.T219K	ENST00000371141	NM_001001433.2	219	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS13468.1	656	MUTECT|MUSE	.	TTTTACAGAGG	NONE	.	.	hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957,Gene3D:1.20.58.70,Superfamily_domains:SSF47661	.	.	ENSP00000360183	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.334)	.	deleterious(0)	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,missense_variant,p.Thr202Lys,ENST00000355957,;STX16,missense_variant,p.Thr198Lys,ENST00000371132,;STX16,missense_variant,p.Thr219Lys,ENST00000371141,;STX16,missense_variant,p.Thr215Lys,ENST00000358029,;STX16,missense_variant,p.Thr166Lys,ENST00000312283,;STX16,missense_variant,p.Thr166Lys,ENST00000359617,;STX16,missense_variant,p.Thr219Lys,ENST00000361830,;STX16,missense_variant,p.Thr202Lys,ENST00000361770,;STX16,intron_variant,,ENST00000438253,;STX16,downstream_gene_variant,,ENST00000412911,;STX16,downstream_gene_variant,,ENST00000458280,;STX16,non_coding_transcript_exon_variant,,ENST00000490700,;STX16,non_coding_transcript_exon_variant,,ENST00000496117,;STX16,non_coding_transcript_exon_variant,,ENST00000468590,;STX16,intron_variant,,ENST00000496003,;STX16-NPEPL1,missense_variant,p.Thr219Lys,ENST00000530122,;STX16,splice_region_variant,,ENST00000464640,;STX16,3_prime_UTR_variant,,ENST00000467096,;STX16,3_prime_UTR_variant,,ENST00000493301,;STX16,3_prime_UTR_variant,,ENST00000483434,;STX16,3_prime_UTR_variant,,ENST00000476384,;STX16,downstream_gene_variant,,ENST00000460655,;STX16-NPEPL1,upstream_gene_variant,,ENST00000413559,;	1380	93	115	SUCCESS
CDH26	60437	.	GRCh37	20	58560154	58560154	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754090670	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	36	0	ENST00000348616.4:c.807C>A	p.Asn269Lys	p.N269K	ENST00000348616	NM_177980.2	269	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS13485.1	807	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACAACCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000339390	.	7/18	.	.	.	.	.	.	.	.	rs754090670	7/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,missense_variant,p.Asn269Lys,ENST00000244047,;CDH26,missense_variant,p.Asn269Lys,ENST00000348616,;CDH26,upstream_gene_variant,,ENST00000370991,;CDH26,upstream_gene_variant,,ENST00000477058,;	1107	36	57	SUCCESS
CDH4	1002	.	GRCh37	20	60293886	60293886	+	intron_variant	Intron	SNP	C	C	G	rs562632087	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	84	0	ENST00000360469.5:c.170-24733C>G		p.*57*	ENST00000360469	NM_001794.3	114		0	.	.	.	.	.	G	R/P	protein_coding	YES	.	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGACAG	NONE	.	.	.	.	.	ENSP00000315214	.	2/2	.	.	.	.	.	.	.	.	rs562632087	2/2	PASS	ENST00000317652	Transcript	.	.	ENSG00000179253	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	.	.	.	RP11-429E11.3	Clone_based_vega_gene	Q5VZ43_HUMAN	.	UPI00001400F7	SNV	RP11-429E11.3,missense_variant,p.Arg114Pro,ENST00000317652,;CDH4,intron_variant,,ENST00000543233,;CDH4,intron_variant,,ENST00000360469,;	676	84	70	SUCCESS
YTHDF1	54915	.	GRCh37	20	61835099	61835099	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs773451524	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	75	0	ENST00000370339.3:c.193G>C	p.Gly65Arg	p.G65R	ENST00000370339	NM_017798.3	65	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS13511.1	193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCAATGG	NONE	.	.	hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF20	.	.	ENSP00000359364	.	4/5	.	.	.	.	.	.	.	.	rs773451524	4/5	PASS	ENST00000370339	Transcript	.	.	ENSG00000149658	15867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0.01)	.	YTHD1_HUMAN	YTHDF1	HGNC	F8W840_HUMAN	.	UPI0000128DD9	SNV	YTHDF1,missense_variant,p.Gly65Arg,ENST00000370339,;YTHDF1,missense_variant,p.Gly15Arg,ENST00000370333,;YTHDF1,intron_variant,,ENST00000370334,;	535	75	79	SUCCESS
COL20A1	57642	.	GRCh37	20	61938948	61938948	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs753010290	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	65	0	ENST00000358894.6:c.604del	p.Leu202TrpfsTer17	p.L202Wfs*17	ENST00000358894	NM_020882.2	201	ttC/tt	0	-:0.0003	.	.	.	.	-	F/X	protein_coding	YES	CCDS46628.1	603	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTTCCTGGC	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,PROSITE_profiles:PS50234	.	-:0.0004	ENSP00000351767	.	6/36	.	.	.	.	.	.	.	.	TMP_ESP_20_61938948_61938948	6/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	deletion	COL20A1,frameshift_variant,p.Leu202TrpfsTer17,ENST00000358894,;COL20A1,frameshift_variant,p.Leu209TrpfsTer17,ENST00000422202,;COL20A1,frameshift_variant,p.Leu202TrpfsTer17,ENST00000326996,;COL20A1,frameshift_variant,p.Leu209TrpfsTer17,ENST00000435874,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	703	65	81	SUCCESS
NPBWR2	2832	.	GRCh37	20	62737266	62737266	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748131572	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	51	0	ENST00000369768.1:c.919G>A	p.Ala307Thr	p.A307T	ENST00000369768	NM_005286.2	307	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13557.1	919	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCGTAGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000358783	.	1/1	.	.	.	.	.	.	.	.	rs748131572	1/1	PASS	ENST00000369768	Transcript	.	.	ENSG00000125522	4530	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.39)	.	NPBW2_HUMAN	NPBWR2	HGNC	.	.	UPI000013CBB3	SNV	NPBWR2,missense_variant,p.Ala307Thr,ENST00000369768,;	1259	51	80	SUCCESS
PLCB4	5332	.	GRCh37	20	9401994	9401994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	12	91	0	ENST00000278655.4:c.2169G>T	p.Glu723Asp	p.E723D	ENST00000278655	NM_182797.2	723	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13104.1	2169	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAGGTGGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF49562	.	.	ENSP00000367762	.	23/36	.	.	.	.	.	.	.	.	.	23/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Glu723Asp,ENST00000334005,;PLCB4,missense_variant,p.Glu735Asp,ENST00000414679,;PLCB4,missense_variant,p.Glu723Asp,ENST00000278655,;PLCB4,missense_variant,p.Glu735Asp,ENST00000378473,;PLCB4,missense_variant,p.Glu723Asp,ENST00000378493,;PLCB4,missense_variant,p.Glu723Asp,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	2184	91	135	SUCCESS
KRTAP13-2	337959	.	GRCh37	21	31744410	31744410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	9	142	0	ENST00000399889.2:c.122G>T	p.Cys41Phe	p.C41F	ENST00000399889	NM_181621.3	41	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS13589.1	122	MUTECT|MUSE	.	GAGAGCAGAGG	NONE	.	.	Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17	.	.	ENSP00000382777	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399889	Transcript	.	.	ENSG00000182816	18923	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.493)	.	tolerated(0.1)	.	KR132_HUMAN	KRTAP13-2	HGNC	.	.	UPI000003B46A	SNV	KRTAP13-2,missense_variant,p.Cys41Phe,ENST00000399889,;MIR4327,downstream_gene_variant,,ENST00000581194,;	148	142	148	SUCCESS
KRTAP22-1	337979	.	GRCh37	21	31973499	31973499	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	57	334	0	ENST00000334680.2:c.60C>A	p.Cys20Ter	p.C20*	ENST00000334680	NM_181620.1	20	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS13601.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCAGCTA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF11759	.	.	ENSP00000333887	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334680	Transcript	.	.	ENSG00000186924	18947	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR221_HUMAN	KRTAP22-1	HGNC	.	.	UPI00001A9E4B	SNV	KRTAP22-1,stop_gained,p.Cys20Ter,ENST00000334680,;KRTAP6-2,upstream_gene_variant,,ENST00000334897,;	86	334	175	SUCCESS
HUNK	30811	.	GRCh37	21	33296847	33296847	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1352771277	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	16	69	0	ENST00000270112.2:c.329G>A	p.Arg110Gln	p.R110Q	ENST00000270112	NM_014586.1	110	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13610.1	329	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGAGAGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343,PROSITE_profiles:PS50011	.	.	ENSP00000270112	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000270112	Transcript	.	.	ENSG00000142149	13326	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HUNK_HUMAN	HUNK	HGNC	.	.	UPI0000035B66	SNV	HUNK,missense_variant,p.Arg110Gln,ENST00000270112,;HUNK,upstream_gene_variant,,ENST00000430354,;	689	69	119	SUCCESS
SON	6651	.	GRCh37	21	34925206	34925206	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	65	180	1	ENST00000356577.4:c.3669T>A	p.Pro1223=	p.P1223=	ENST00000356577	NM_138927.2	1223	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13629.1	3669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813	.	.	ENSP00000348984	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000356577	Transcript	.	.	ENSG00000159140	11183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SON_HUMAN	SON	HGNC	.	.	UPI0000140BFD	SNV	SON,synonymous_variant,p.%3D,ENST00000381679,;SON,synonymous_variant,p.%3D,ENST00000300278,;SON,synonymous_variant,p.%3D,ENST00000356577,;SON,synonymous_variant,p.%3D,ENST00000436227,;SON,synonymous_variant,p.%3D,ENST00000290239,;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000421541,;SON,synonymous_variant,p.%3D,ENST00000455528,;	4144	181	154	SUCCESS
TTC3	7267	.	GRCh37	21	38538901	38538901	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1239369508	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	17	161	1	ENST00000354749.2:c.4385A>G	p.Gln1462Arg	p.Q1462R	ENST00000354749		1462	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13651.1	4385	MUTECT|MUSE|VARSCANS	.	CGTGCAGATGG	NONE	.	.	hmmpanther:PTHR17550	.	.	ENSP00000381981	.	33/46	.	.	.	.	.	.	.	.	.	33/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Gln1462Arg,ENST00000354749,;TTC3,missense_variant,p.Gln1462Arg,ENST00000355666,;TTC3,missense_variant,p.Gln1462Arg,ENST00000399017,;TTC3,downstream_gene_variant,,ENST00000438055,;TTC3,downstream_gene_variant,,ENST00000418766,;TTC3,downstream_gene_variant,,ENST00000411496,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,downstream_gene_variant,,ENST00000487711,;TTC3,downstream_gene_variant,,ENST00000469939,;TTC3,downstream_gene_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;	7132	162	196	SUCCESS
KCNJ6	3763	.	GRCh37	21	39086700	39086700	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	239	9	182	0	ENST00000609713.1:c.760C>T	p.Pro254Ser	p.P254S	ENST00000609713	NM_002240.3	254	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS42927.1	760	MUTECT|MUSE	.	CAACGGGATGA	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19,Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000477437	.	3/4	.	.	.	.	.	.	.	.	COSM3550625	3/4	PASS	ENST00000609713	Transcript	.	.	ENSG00000157542	6267	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	.	KCNJ6	HGNC	.	.	UPI0000000B10	SNV	KCNJ6,missense_variant,p.Pro254Ser,ENST00000288309,;KCNJ6,missense_variant,p.Pro254Ser,ENST00000609713,;KCNJ6-IT1,downstream_gene_variant,,ENST00000435001,;	1350	182	248	SUCCESS
RRP1B	23076	.	GRCh37	21	45094517	45094517	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	8	113	0	ENST00000340648.4:c.358C>A	p.Leu120Met	p.L120M	ENST00000340648	NM_015056.2	120	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS33577.1	358	MUTECT|MUSE	.	TTTAGCTGATT	NONE	.	.	hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2,Pfam_domain:PF05997	.	.	ENSP00000339145	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000340648	Transcript	.	.	ENSG00000160208	23818	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RRP1B_HUMAN	RRP1B	HGNC	.	.	UPI0000198EE6	SNV	RRP1B,missense_variant,p.Leu120Met,ENST00000340648,;	475	113	129	SUCCESS
CLTCL1	8218	.	GRCh37	22	19223332	19223332	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs191439705	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	12	103	0	ENST00000427926.1:c.856G>C	p.Asp286His	p.D286H	ENST00000427926		286	Gac/Cac	0	.	G:0	.	G:0.0043	.	G	D/H	protein_coding	YES	CCDS46662.1	856	MUTECT|MUSE	.	TAGGTCGTACA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096	G:0	.	ENSP00000445677	G:0	6/33	.	.	.	.	.	.	.	.	rs191439705	6/33	PASS	ENST00000263200	Transcript	.	G:0.0006	ENSG00000070371	2093	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	G:0	deleterious(0)	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,missense_variant,p.Asp286His,ENST00000427926,;CLTCL1,missense_variant,p.Asp286His,ENST00000263200,;CLTCL1,missense_variant,p.Asp286His,ENST00000353891,;CLTCL1,missense_variant,p.Asp286His,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,upstream_gene_variant,,ENST00000540896,;AC000081.2,downstream_gene_variant,,ENST00000433141,;	929	103	216	SUCCESS
PI4KAP1	728233	.	GRCh37	22	20385730	20385730	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	442	205	663	0	ENST00000437178.2:n.2166T>G		p.*722*	ENST00000437178				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAAGAACT	NONE	.	.	.	.	.	.	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000437178	Transcript	.	.	ENSG00000215513	33576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PI4KAP1	HGNC	.	.	.	SNV	PI4KAP1,non_coding_transcript_exon_variant,,ENST00000430523,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000452435,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000452110,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000455715,;PI4KAP1,downstream_gene_variant,,ENST00000438765,;PI4KAP1,downstream_gene_variant,,ENST00000416922,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000400467,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000437178,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000544467,;	2166	663	648	SUCCESS
SCARF2	91179	.	GRCh37	22	20784723	20784723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1171784827	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	20	0	ENST00000266214.5:c.1195G>A	p.Gly399Arg	p.G399R	ENST00000266214	NM_153334.4	399	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13779.1	1195	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GGGCCCGTGGA	NONE	.	.	hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,PROSITE_patterns:PS00022,SMART_domains:SM00180,SMART_domains:SM00181,Prints_domain:PR00011	.	.	ENSP00000266214	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000266214	Transcript	.	.	ENSG00000244486	19869	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SREC2_HUMAN	SCARF2	HGNC	.	.	UPI0000135F1C	SNV	SCARF2,missense_variant,p.Gly399Arg,ENST00000405555,;SCARF2,missense_variant,p.Gly399Arg,ENST00000266214,;KLHL22,3_prime_UTR_variant,,ENST00000429594,;SCARF2,upstream_gene_variant,,ENST00000494535,;	1300	20	22	SUCCESS
SEZ6L	23544	.	GRCh37	22	26688528	26688528	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1569447938	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	38	0	ENST00000248933.6:c.251T>C	p.Val84Ala	p.V84A	ENST00000248933		84	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13833.1	251	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTGCTGG	BUFFER|p.G81G|c.243C>T|3	.	.	.	.	.	ENSP00000248933	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.1)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Val84Ala,ENST00000529632,;SEZ6L,missense_variant,p.Val84Ala,ENST00000248933,;SEZ6L,missense_variant,p.Val84Ala,ENST00000360929,;SEZ6L,missense_variant,p.Val84Ala,ENST00000343706,;SEZ6L,missense_variant,p.Val84Ala,ENST00000404234,;SEZ6L,5_prime_UTR_variant,,ENST00000402979,;SEZ6L,5_prime_UTR_variant,,ENST00000403121,;	346	38	60	SUCCESS
NF2	4771	.	GRCh37	22	30069414	30069414	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	6	68	0	ENST00000338641.4:c.1279G>T	p.Glu427Ter	p.E427*	ENST00000338641	NM_000268.3	427	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13861.1	1279	MUTECT|MUSE	.	TGATGGAGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305	.	.	ENSP00000344666	.	12/16	.	.	.	.	.	.	.	.	CM002818	12/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	.	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	SNV	NF2,stop_gained,p.Glu398Ter,ENST00000403435,;NF2,stop_gained,p.Glu385Ter,ENST00000361676,;NF2,stop_gained,p.Glu427Ter,ENST00000338641,;NF2,stop_gained,p.Glu427Ter,ENST00000397789,;NF2,stop_gained,p.Glu344Ter,ENST00000353887,;NF2,stop_gained,p.Glu427Ter,ENST00000361166,;NF2,stop_gained,p.Glu427Ter,ENST00000403999,;NF2,stop_gained,p.Glu344Ter,ENST00000334961,;NF2,stop_gained,p.Glu386Ter,ENST00000361452,;NF2,intron_variant,,ENST00000347330,;NF2,intron_variant,,ENST00000413209,;NF2,intron_variant,,ENST00000432151,;	1720	68	113	SUCCESS
PLA2G3	50487	.	GRCh37	22	31533849	31533849	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs768549481	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	20	220	0	ENST00000215885.3:c.913A>T	p.Lys305Ter	p.K305*	ENST00000215885	NM_015715.3	305	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS13889.1	913	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTTCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253	.	.	ENSP00000215885	.	4/7	.	.	.	.	.	.	.	.	rs768549481	4/7	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,stop_gained,p.Lys305Ter,ENST00000215885,;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000412277,;INPP5J,downstream_gene_variant,,ENST00000405300,;INPP5J,downstream_gene_variant,,ENST00000404390,;INPP5J,downstream_gene_variant,,ENST00000331075,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000461241,;	1166	220	186	SUCCESS
PLA2G3	50487	.	GRCh37	22	31534717	31534717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	262	15	300	0	ENST00000215885.3:c.583C>A	p.Gln195Lys	p.Q195K	ENST00000215885	NM_015715.3	195	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS13889.1	583	MUTECT|MUSE	.	GTACTGCAAGG	NONE	.	.	hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253,Pfam_domain:PF05826,Gene3D:1.20.90.10,Superfamily_domains:SSF48619	.	.	ENSP00000215885	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.74)	.	deleterious(0)	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,missense_variant,p.Gln195Lys,ENST00000215885,;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000412277,;INPP5J,downstream_gene_variant,,ENST00000405300,;INPP5J,downstream_gene_variant,,ENST00000404390,;INPP5J,downstream_gene_variant,,ENST00000331075,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000461241,;	836	300	277	SUCCESS
SLC5A1	6523	.	GRCh37	22	32480421	32480437	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCCAGCTTTTCACGAAG	TCCAGCTTTTCACGAAG	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	TCCAGCTTTTCACGAAG	TCCAGCTTTTCACGAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	96	0	ENST00000266088.4:c.665-4_677del		p.X222_splice	ENST00000266088	NM_000343.3	222		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13902.1	?-676	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGTTTTCCAGCTTTTCACGAAGTGGGA	NONE	.	.	.	.	.	ENSP00000266088	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000266088	Transcript	.	.	ENSG00000100170	11036	1	.	HIGH	7/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC5A1_HUMAN	SLC5A1	HGNC	A4QPH0_HUMAN	.	UPI00001359EA	deletion	SLC5A1,splice_acceptor_variant,,ENST00000543737,;SLC5A1,splice_acceptor_variant,,ENST00000266088,;SLC5A1,splice_acceptor_variant,,ENST00000486394,;SLC5A1,upstream_gene_variant,,ENST00000477969,;	?-926	96	106	SUCCESS
TOM1	10043	.	GRCh37	22	35717981	35717981	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	7	66	0	ENST00000449058.2:c.167A>G	p.Lys56Arg	p.K56R	ENST00000449058	NM_005488.2	56	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46696.1	167	MUTECT|MUSE	.	AAAGAAGAGAA	NONE	.	.	Superfamily_domains:SSF48464,SMART_domains:SM00288,PIRSF_domain:PIRSF036948,Pfam_domain:PF00790,Gene3D:1.25.40.90,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF32,PROSITE_profiles:PS50179	.	.	ENSP00000413697	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000411850	Transcript	.	.	ENSG00000100284	11982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	TOM1_HUMAN	TOM1	HGNC	B0QY02_HUMAN	.	UPI000000DB48	SNV	TOM1,missense_variant,p.Lys56Arg,ENST00000456128,;TOM1,missense_variant,p.Lys56Arg,ENST00000411850,;TOM1,missense_variant,p.Lys23Arg,ENST00000443206,;TOM1,missense_variant,p.Lys56Arg,ENST00000449058,;TOM1,missense_variant,p.Lys56Arg,ENST00000425375,;TOM1,missense_variant,p.Lys23Arg,ENST00000608674,;TOM1,missense_variant,p.Lys23Arg,ENST00000447733,;TOM1,missense_variant,p.Lys23Arg,ENST00000608749,;TOM1,5_prime_UTR_variant,,ENST00000382034,;TOM1,intron_variant,,ENST00000436462,;TOM1,missense_variant,p.Lys56Arg,ENST00000439512,;TOM1,missense_variant,p.Lys56Arg,ENST00000395736,;TOM1,3_prime_UTR_variant,,ENST00000424387,;TOM1,3_prime_UTR_variant,,ENST00000404284,;TOM1,non_coding_transcript_exon_variant,,ENST00000487670,;TOM1,intron_variant,,ENST00000449508,;TOM1,upstream_gene_variant,,ENST00000491987,;TOM1,upstream_gene_variant,,ENST00000497448,;TOM1,downstream_gene_variant,,ENST00000465529,;	292	66	158	SUCCESS
MCM5	4174	.	GRCh37	22	35796490	35796490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	7	107	1	ENST00000216122.4:c.59A>G	p.Gln20Arg	p.Q20R	ENST00000216122	NM_006739.3	20	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13915.1	59	MUTECT|MUSE	.	CGCCCAGGCCG	NONE	.	.	hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Gene3D:1ltlA01	.	.	ENSP00000216122	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000216122	Transcript	.	.	ENSG00000100297	6948	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.51)	.	MCM5_HUMAN	MCM5	HGNC	B1AHB2_HUMAN,B1AHB0_HUMAN	.	UPI000000D8F4	SNV	MCM5,missense_variant,p.Gln20Arg,ENST00000416905,;MCM5,missense_variant,p.Gln20Arg,ENST00000216122,;MCM5,missense_variant,p.Gln20Arg,ENST00000382011,;MCM5,splice_region_variant,,ENST00000444778,;MCM5,intron_variant,,ENST00000417343,;MCM5,missense_variant,p.Gln20Arg,ENST00000451351,;	213	108	122	SUCCESS
TRIOBP	11078	.	GRCh37	22	38120914	38120914	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768806208	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	15	239	0	ENST00000406386.3:c.2351A>G	p.Asn784Ser	p.N784S	ENST00000406386	NM_001039141.2	784	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43015.1	2351	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAATAGAG	NONE	byFrequency	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs768806208	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.12)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Asn784Ser,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	2606	239	145	SUCCESS
CSNK1E	1454	.	GRCh37	22	38696748	38696748	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	243	9	240	0	ENST00000359867.3:c.546C>G	p.Ile182Met	p.I182M	ENST00000359867	NM_001894.4	182	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS13970.1	546	MUTECT|MUSE	.	GTGTTGATGGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF74,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000380044	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000396832	Transcript	.	.	ENSG00000213923	2453	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.775)	.	tolerated_low_confidence(0.13)	.	KC1E_HUMAN	CSNK1E	HGNC	Q5U045_HUMAN,B0QY36_HUMAN	.	UPI000012DC67	SNV	CSNK1E,missense_variant,p.Ile182Met,ENST00000403904,;CSNK1E,missense_variant,p.Ile182Met,ENST00000359867,;CSNK1E,missense_variant,p.Ile182Met,ENST00000405675,;CSNK1E,missense_variant,p.Ile182Met,ENST00000430335,;CSNK1E,missense_variant,p.Ile120Met,ENST00000451964,;CSNK1E,missense_variant,p.Ile182Met,ENST00000400206,;CSNK1E,missense_variant,p.Ile182Met,ENST00000413574,;CSNK1E,missense_variant,p.Ile182Met,ENST00000396832,;CSNK1E,upstream_gene_variant,,ENST00000431632,;CSNK1E,upstream_gene_variant,,ENST00000498529,;CSNK1E,stop_gained,p.Ser8Ter,ENST00000431611,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000467976,;CSNK1E,upstream_gene_variant,,ENST00000442216,;	807	241	252	SUCCESS
GRAP2	9402	.	GRCh37	22	40343142	40343142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	7	187	0	ENST00000344138.4:c.32C>A	p.Ala11Asp	p.A11D	ENST00000344138	NM_004810.2	11	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13999.1	32	MUTECT|MUSE	.	CACTGCTTCAG	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF00018,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF28,PROSITE_profiles:PS50002	.	.	ENSP00000339186	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000344138	Transcript	.	.	ENSG00000100351	4563	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRAP2_HUMAN	GRAP2	HGNC	Q6FI14_HUMAN,B7Z8E3_HUMAN,B1AH86_HUMAN	.	UPI000012BB02	SNV	GRAP2,missense_variant,p.Ala11Asp,ENST00000543252,;GRAP2,missense_variant,p.Ala11Asp,ENST00000420971,;GRAP2,missense_variant,p.Ala11Asp,ENST00000407075,;GRAP2,missense_variant,p.Ala11Asp,ENST00000344138,;GRAP2,5_prime_UTR_variant,,ENST00000544756,;GRAP2,intron_variant,,ENST00000399090,;GRAP2,intron_variant,,ENST00000540310,;GRAP2,intron_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000461082,;	295	187	260	SUCCESS
EP300	2033	.	GRCh37	22	41560092	41560092	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	21	324	0	ENST00000263253.7:c.3764A>T	p.His1255Leu	p.H1255L	ENST00000263253	NM_001429.3	1255	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS14010.1	3764	MUTECT|MUSE	.	GATGCATCAGA	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	22/31	.	.	.	.	.	.	.	.	.	22/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.His1255Leu,ENST00000263253,;RNU6-375P,upstream_gene_variant,,ENST00000517050,;	4983	324	236	SUCCESS
POLR3H	171568	.	GRCh37	22	41928119	41928119	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	68	0	ENST00000355209.4:c.338C>A	p.Ser113Ter	p.S113*	ENST00000355209	NM_001018050.2	113	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS14018.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTGACTCT	NONE	.	.	Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00448,Pfam_domain:PF08292,hmmpanther:PTHR12709:SF1,hmmpanther:PTHR12709	.	.	ENSP00000347345	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000355209	Transcript	.	.	ENSG00000100413	30349	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPC8_HUMAN	POLR3H	HGNC	.	.	UPI0000073CE5	SNV	POLR3H,stop_gained,p.Ser113Ter,ENST00000396504,;POLR3H,stop_gained,p.Ser113Ter,ENST00000407461,;POLR3H,stop_gained,p.Ser113Ter,ENST00000355209,;POLR3H,stop_gained,p.Ser84Ter,ENST00000337566,;ACO2,downstream_gene_variant,,ENST00000216254,;ACO2,downstream_gene_variant,,ENST00000396512,;POLR3H,downstream_gene_variant,,ENST00000420561,;POLR3H,3_prime_UTR_variant,,ENST00000431534,;POLR3H,3_prime_UTR_variant,,ENST00000432789,;POLR3H,downstream_gene_variant,,ENST00000442616,;	682	68	62	SUCCESS
CRELD2	79174	.	GRCh37	22	50316298	50316298	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	80	0	ENST00000328268.4:c.631A>T	p.Asn211Tyr	p.N211Y	ENST00000328268	NM_024324.3	211	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS46730.1	778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCAACAGA	NONE	.	.	hmmpanther:PTHR24838:SF252,hmmpanther:PTHR24838,SMART_domains:SM00261,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000383938	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000404488	Transcript	.	.	ENSG00000184164	28150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	deleterious(0)	.	CREL2_HUMAN	CRELD2	HGNC	.	.	UPI0000E56EE9	SNV	CRELD2,missense_variant,p.Asn211Tyr,ENST00000407217,;CRELD2,missense_variant,p.Asn211Tyr,ENST00000328268,;CRELD2,missense_variant,p.Asn211Tyr,ENST00000403427,;CRELD2,missense_variant,p.Asn260Tyr,ENST00000404488,;CRELD2,missense_variant,p.Asn211Tyr,ENST00000450207,;ALG12,upstream_gene_variant,,ENST00000330817,;CRELD2,non_coding_transcript_exon_variant,,ENST00000444954,;CRELD2,non_coding_transcript_exon_variant,,ENST00000462253,;CRELD2,downstream_gene_variant,,ENST00000498354,;CRELD2,non_coding_transcript_exon_variant,,ENST00000483652,;CRELD2,non_coding_transcript_exon_variant,,ENST00000482956,;CRELD2,upstream_gene_variant,,ENST00000487969,;	913	80	48	SUCCESS
IL17REL	400935	.	GRCh37	22	50439551	50439551	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs771026898	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	15	60	0	ENST00000341280.5:c.69C>G	p.Cys23Trp	p.C23W	ENST00000341280		23	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS33679.1	69	RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCGCAGCC	NONE	.	.	.	.	.	ENSP00000374633	.	4/15	.	.	.	.	.	.	.	.	rs771026898	4/15	PASS	ENST00000389983	Transcript	.	.	ENSG00000188263	33808	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	I17EL_HUMAN	IL17REL	HGNC	.	.	UPI0000251EDA	SNV	IL17REL,missense_variant,p.Cys23Trp,ENST00000341280,;IL17REL,missense_variant,p.Cys23Trp,ENST00000389983,;	334	60	142	SUCCESS
TRABD	80305	.	GRCh37	22	50636557	50636557	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	50	0	ENST00000303434.4:c.898C>G	p.His300Asp	p.H300D	ENST00000303434	NM_025204.2	300	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS14086.1	898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCACGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21530,hmmpanther:PTHR21530:SF0,Pfam_domain:PF01963	.	.	ENSP00000305664	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000303434	Transcript	.	.	ENSG00000170638	28805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRABD_HUMAN	TRABD	HGNC	.	.	UPI0000049DAE	SNV	TRABD,missense_variant,p.His300Asp,ENST00000395827,;TRABD,missense_variant,p.His300Asp,ENST00000303434,;TRABD,missense_variant,p.His300Asp,ENST00000395829,;TRABD,missense_variant,p.His300Asp,ENST00000380909,;SELO,upstream_gene_variant,,ENST00000380903,;RP3-402G11.26,downstream_gene_variant,,ENST00000608025,;TRABD,non_coding_transcript_exon_variant,,ENST00000472677,;TRABD,non_coding_transcript_exon_variant,,ENST00000463233,;	1017	50	72	SUCCESS
CNOT11	55571	.	GRCh37	2	101885756	101885756	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	17	168	0	ENST00000289382.3:c.1414A>T	p.Ile472Leu	p.I472L	ENST00000289382	NM_017546.4	472	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS2050.1	1414	MUTECT|MUSE|VARSCANS	.	TGTTTATAGAA	NONE	.	.	Pfam_domain:PF10155,hmmpanther:PTHR15975	.	.	ENSP00000289382	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000289382	Transcript	.	.	ENSG00000158435	25217	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.935)	.	deleterious(0.05)	.	CNO11_HUMAN	CNOT11	HGNC	B3KNB0_HUMAN	.	UPI00000715FD	SNV	CNOT11,missense_variant,p.Ile472Leu,ENST00000289382,;CNOT11,3_prime_UTR_variant,,ENST00000420107,;SNORD89,downstream_gene_variant,,ENST00000390981,;RNF149,downstream_gene_variant,,ENST00000485752,;CNOT11,downstream_gene_variant,,ENST00000462489,;RNF149,downstream_gene_variant,,ENST00000424632,;	1577	168	190	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105924415	105924415	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369840873	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	35	0	ENST00000258449.1:c.344G>T	p.Arg115Leu	p.R115L	ENST00000258449	NM_001142621.1	115	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS2067.1	344	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCGGGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50219,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00780	.	T:0.0001	ENSP00000377027	.	2/12	.	.	.	.	.	.	.	.	rs369840873	2/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.Arg115Leu,ENST00000393359,;TGFBRAP1,missense_variant,p.Arg115Leu,ENST00000258449,;	771	35	115	SUCCESS
RANBP2	5903	.	GRCh37	2	109380318	109380318	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764978550	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	8	151	0	ENST00000283195.6:c.3323G>T	p.Gly1108Val	p.G1108V	ENST00000283195	NM_006267.4	1108	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2079.1	3323	MUTECT|MUSE	.	GTCTGGAATTT	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	rs764978550	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.066)	.	deleterious(0)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Gly1108Val,ENST00000283195,;	3449	151	189	SUCCESS
RANBP2	5903	.	GRCh37	2	109381074	109381074	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1305599461	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	20	114	0	ENST00000283195.6:c.4079G>A	p.Ser1360Asn	p.S1360N	ENST00000283195	NM_006267.4	1360	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS2079.1	4079	RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGCTGCT	NONE	.	.	PROSITE_profiles:PS50199,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,PROSITE_patterns:PS01358,Pfam_domain:PF00641,SMART_domains:SM00547	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.285)	.	tolerated(0.34)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Ser1360Asn,ENST00000283195,;	4205	114	193	SUCCESS
KCNF1	3754	.	GRCh37	2	11053487	11053487	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1408325931	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	7	73	0	ENST00000295082.1:c.935C>T	p.Thr312Ile	p.T312I	ENST00000295082	NM_002236.4	312	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1676.1	935	MUTECT|MUSE	.	GCAGACCCTCA	NONE	.	.	hmmpanther:PTHR11537:SF42,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000295082	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295082	Transcript	.	.	ENSG00000162975	6246	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNF1_HUMAN	KCNF1	HGNC	.	.	UPI000012DC98	SNV	KCNF1,missense_variant,p.Thr312Ile,ENST00000295082,;	1425	73	146	SUCCESS
WDR33	55339	.	GRCh37	2	128474768	128474768	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	20	156	0	ENST00000322313.4:c.2830C>A	p.Pro944Thr	p.P944T	ENST00000322313	NM_018383.4	944	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2150.1	2830	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGAATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22836	.	.	ENSP00000325377	.	17/22	.	.	.	.	.	.	.	.	COSM1691021	17/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.092)	.	deleterious_low_confidence(0.03)	1	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,missense_variant,p.Pro944Thr,ENST00000322313,;	2989	156	161	SUCCESS
NCKAP5	344148	.	GRCh37	2	133547663	133547663	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764852232	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	16	117	1	ENST00000409261.1:c.1025G>T	p.Ser342Ile	p.S342I	ENST00000409261	NM_207363.2	342	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS46418.1	1025	MUTECT|VARSCANS	.	AGGTGCTTGAA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	13/20	.	.	.	.	.	.	.	.	rs764852232	13/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Ser342Ile,ENST00000409213,;NCKAP5,missense_variant,p.Ser342Ile,ENST00000409261,;NCKAP5,missense_variant,p.Ser342Ile,ENST00000405974,;NCKAP5,missense_variant,p.Ser342Ile,ENST00000317721,;	1399	118	162	SUCCESS
TPO	7173	.	GRCh37	2	1497607	1497607	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	65	0	ENST00000329066.4:c.1802C>A	p.Pro601His	p.P601H	ENST00000329066	NM_001206744.1	601	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1643.1	1802	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTCGCC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Pro601His,ENST00000329066,;TPO,missense_variant,p.Pro601His,ENST00000337415,;TPO,missense_variant,p.Pro428His,ENST00000382198,;TPO,missense_variant,p.Pro544His,ENST00000382201,;TPO,missense_variant,p.Pro76His,ENST00000446278,;TPO,missense_variant,p.Pro428His,ENST00000349624,;TPO,missense_variant,p.Pro601His,ENST00000346956,;TPO,missense_variant,p.Pro75His,ENST00000469607,;TPO,missense_variant,p.Pro530His,ENST00000422464,;TPO,missense_variant,p.Pro601His,ENST00000345913,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;	1893	65	93	SUCCESS
CACNB4	785	.	GRCh37	2	152732958	152732958	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs376364352	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	14	203	0	ENST00000539935.1:c.503G>C	p.Arg168Thr	p.R168T	ENST00000539935	NM_001145798.1	168	aGa/aCa	0	G:0.0003	.	.	.	.	G	R/T	protein_coding	YES	CCDS46426.1	503	MUSE|VARSCANS	.	GTCCTCTTTTT	NONE	byCluster	.	Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR11824:SF7,hmmpanther:PTHR11824	.	G:0	ENSP00000438949	.	5/14	.	.	.	.	.	.	.	.	rs376364352	5/14	PASS	ENST00000539935	Transcript	.	.	ENSG00000182389	1404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.357)	.	tolerated(0.18)	.	CACB4_HUMAN	CACNB4	HGNC	Q9NZA2_HUMAN,Q580I4_HUMAN,Q53S65_HUMAN	.	UPI0000208F1E	SNV	CACNB4,missense_variant,p.Arg134Thr,ENST00000534999,;CACNB4,missense_variant,p.Arg150Thr,ENST00000427385,;CACNB4,missense_variant,p.Arg121Thr,ENST00000397327,;CACNB4,missense_variant,p.Arg134Thr,ENST00000360283,;CACNB4,missense_variant,p.Arg168Thr,ENST00000201943,;CACNB4,missense_variant,p.Arg168Thr,ENST00000539935,;CACNB4,missense_variant,p.Arg163Thr,ENST00000439467,;CACNB4,downstream_gene_variant,,ENST00000434468,;CACNB4,non_coding_transcript_exon_variant,,ENST00000470066,;	571	203	137	SUCCESS
PRPF40A	55660	.	GRCh37	2	153573934	153573934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	28	47	0	ENST00000410080.1:c.20G>T	p.Arg7Leu	p.R7L	ENST00000410080	NM_017892.3	7	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS46430.1	20	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCGGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864	.	.	ENSP00000386458	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000410080	Transcript	.	.	ENSG00000196504	16463	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.25)	.	tolerated_low_confidence(0.24)	.	PR40A_HUMAN	PRPF40A	HGNC	Q4ZG51_HUMAN	.	UPI00015743D9	SNV	PRPF40A,missense_variant,p.Arg7Leu,ENST00000410080,;PRPF40A,missense_variant,p.Arg13Leu,ENST00000448428,;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,upstream_gene_variant,,ENST00000545856,;ARL6IP6,upstream_gene_variant,,ENST00000326446,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000486100,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;ARL6IP6,upstream_gene_variant,,ENST00000495469,;PRPF40A,missense_variant,p.Arg15Leu,ENST00000354363,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000450303,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;ARL6IP6,upstream_gene_variant,,ENST00000455875,;PRPF40A,upstream_gene_variant,,ENST00000489741,;	562	47	169	SUCCESS
GALNT13	114805	.	GRCh37	2	154800907	154800907	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	68	1	ENST00000392825.3:c.-104T>C		p.X35_splice	ENST00000392825	NM_052917.2	35		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2199.1	.	MUTECT|MUSE	.	TGCAGTGGAAT	NONE	.	.	.	.	.	ENSP00000376570	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000392825	Transcript	.	.	ENSG00000144278	23242	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GLT13_HUMAN	GALNT13	HGNC	Q68VI8_HUMAN	.	UPI0000051E22	SNV	GALNT13,splice_region_variant,,ENST00000392825,;GALNT13,splice_region_variant,,ENST00000434213,;GALNT13,upstream_gene_variant,,ENST00000409237,;	464	69	52	SUCCESS
KCNJ3	3760	.	GRCh37	2	155555841	155555841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	76	0	ENST00000295101.2:c.554C>A	p.Ser185Tyr	p.S185Y	ENST00000295101	NM_002239.3	185	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2200.1	554	RADIA|MUTECT|VARSCANS	.	GATGTCCCAGC	NONE	.	.	hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Superfamily_domains:SSF81296	.	.	ENSP00000295101	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295101	Transcript	.	.	ENSG00000162989	6264	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,missense_variant,p.Ser185Tyr,ENST00000295101,;KCNJ3,missense_variant,p.Ser185Tyr,ENST00000544049,;AC061961.2,upstream_gene_variant,,ENST00000443901,;	1031	76	77	SUCCESS
NR4A2	4929	.	GRCh37	2	157186659	157186659	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	15	87	0	ENST00000339562.4:c.40G>A	p.Gly14Arg	p.G14R	ENST00000339562	NM_006186.3	14	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2201.1	40	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCTTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0,Prints_domain:PR01287	.	.	ENSP00000344479	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000339562	Transcript	.	.	ENSG00000153234	7981	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	NR4A2_HUMAN	NR4A2	HGNC	Q6NXU0_HUMAN,F1D8N6_HUMAN,C9JWQ1_HUMAN,C9IYM5_HUMAN	.	UPI0000036A18	SNV	NR4A2,missense_variant,p.Gly14Arg,ENST00000409108,;NR4A2,missense_variant,p.Gly25Arg,ENST00000539077,;NR4A2,missense_variant,p.Gly14Arg,ENST00000424077,;NR4A2,missense_variant,p.Gly14Arg,ENST00000409572,;NR4A2,missense_variant,p.Gly14Arg,ENST00000339562,;NR4A2,intron_variant,,ENST00000421709,;NR4A2,intron_variant,,ENST00000429376,;NR4A2,intron_variant,,ENST00000426264,;NR4A2,upstream_gene_variant,,ENST00000406048,;NR4A2,intron_variant,,ENST00000417764,;NR4A2,intron_variant,,ENST00000417972,;	403	87	146	SUCCESS
LY75	4065	.	GRCh37	2	160737645	160737645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	16	120	0	ENST00000263636.4:c.1353G>T	p.Glu451Asp	p.E451D	ENST00000263636	NM_002349.3	451	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS56141.1	1353	MUTECT|MUSE	.	TTTGGCTCATT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Glu451Asp,ENST00000504764,;LY75,missense_variant,p.Glu451Asp,ENST00000553424,;LY75,missense_variant,p.Glu451Asp,ENST00000554112,;LY75,missense_variant,p.Glu451Asp,ENST00000263636,;LY75-CD302,missense_variant,p.Glu451Asp,ENST00000505052,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	1381	120	231	SUCCESS
LY75	4065	.	GRCh37	2	160737646	160737646	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	16	119	0	ENST00000263636.4:c.1352A>T	p.Glu451Val	p.E451V	ENST00000263636	NM_002349.3	451	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS56141.1	1352	MUTECT|MUSE	.	TTGGCTCATTC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Glu451Val,ENST00000504764,;LY75,missense_variant,p.Glu451Val,ENST00000553424,;LY75,missense_variant,p.Glu451Val,ENST00000554112,;LY75,missense_variant,p.Glu451Val,ENST00000263636,;LY75-CD302,missense_variant,p.Glu451Val,ENST00000505052,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	1380	119	231	SUCCESS
PLA2R1	22925	.	GRCh37	2	160833216	160833216	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	241	18	210	0	ENST00000283243.7:c.2417T>C	p.Ile806Thr	p.I806T	ENST00000283243	NM_001195641.1	806	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS33309.1	2417	MUTECT|MUSE	.	ACGGAATCTTG	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803	.	.	ENSP00000283243	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.211)	.	tolerated(0.35)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Ile806Thr,ENST00000283243,;PLA2R1,missense_variant,p.Ile806Thr,ENST00000392771,;	2624	210	259	SUCCESS
SCN2A	6326	.	GRCh37	2	166211045	166211045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	234	14	209	0	ENST00000283256.6:c.3263A>G	p.Asp1088Gly	p.D1088G	ENST00000283256	NM_021007.2	1088	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS33313.1	3263	MUTECT|MUSE	.	CGTGGATGAAA	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF06512	.	.	ENSP00000349973	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.72)	.	tolerated(0.06)	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,missense_variant,p.Asp1088Gly,ENST00000283256,;SCN2A,missense_variant,p.Asp1088Gly,ENST00000375437,;SCN2A,missense_variant,p.Asp1088Gly,ENST00000375427,;SCN2A,missense_variant,p.Asp1088Gly,ENST00000357398,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	3553	209	248	SUCCESS
BBS5	129880	.	GRCh37	2	170344622	170344622	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs1559122273	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	74	318	2	ENST00000295240.3:c.384C>A	p.His128Gln	p.H128Q	ENST00000295240	NM_152384.2	128	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS2233.1	384	RADIA|SOMATICSNIPER|VARSCANS	.	GTACACAGGTA	NONE	.	.	hmmpanther:PTHR21351,Pfam_domain:PF07289,PIRSF_domain:PIRSF010072	.	.	ENSP00000295240	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000295240	Transcript	.	.	ENSG00000163093	970	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.967)	.	tolerated(0.14)	.	BBS5_HUMAN	BBS5	HGNC	.	.	UPI000000DA9B	SNV	BBS5,missense_variant,p.His128Gln,ENST00000295240,;BBS5,missense_variant,p.His128Gln,ENST00000392663,;BBS5,missense_variant,p.His128Gln,ENST00000554017,;RP11-724O16.1,missense_variant,p.His128Gln,ENST00000513963,;BBS5,splice_region_variant,,ENST00000443151,;BBS5,splice_region_variant,,ENST00000475571,;	760	320	221	SUCCESS
CHRNA1	1134	.	GRCh37	2	175624066	175624066	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	11	146	0	ENST00000261007.5:c.227T>A	p.Leu76Gln	p.L76Q	ENST00000261007	NM_001039523.2	76	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33331.1	227	MUTECT|MUSE	.	GTTTCAGACGC	NONE	.	.	hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000261007	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000261007	Transcript	.	.	ENSG00000138435	1955	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ACHA_HUMAN	CHRNA1	HGNC	A9X444_HUMAN	.	UPI000012524E	SNV	CHRNA1,missense_variant,p.Leu76Gln,ENST00000409542,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000409219,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000348749,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000409323,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000261007,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,missense_variant,p.Leu76Gln,ENST00000435083,;	294	146	175	SUCCESS
HOXD4	3233	.	GRCh37	2	177017653	177017653	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748779901	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	15	97	0	ENST00000306324.3:c.751G>C	p.Asp251His	p.D251H	ENST00000306324	NM_014621.2	251	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS2269.1	751	RADIA|MUTECT|MUSE|VARSCANS	.	ACACGGACCTG	NONE	.	.	.	.	.	ENSP00000302548	.	2/2	.	.	.	.	.	.	.	.	rs748779901	2/2	PASS	ENST00000306324	Transcript	.	.	ENSG00000170166	5138	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	deleterious_low_confidence(0)	.	HXD4_HUMAN	HOXD4	HGNC	.	.	UPI000012CF87	SNV	HOXD4,missense_variant,p.Asp251His,ENST00000306324,;HOXD3,5_prime_UTR_variant,,ENST00000468418,;HOXD3,intron_variant,,ENST00000432796,;MIR10B,downstream_gene_variant,,ENST00000385011,;	1163	97	150	SUCCESS
HIBCH	26275	.	GRCh37	2	191155206	191155206	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	114	0	ENST00000359678.5:c.310T>G	p.Ser104Ala	p.S104A	ENST00000359678	NM_198047.2	104	Tcg/Gcg	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS2304.1	310	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGAGATCA	NONE	.	.	hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000352706	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000359678	Transcript	.	.	ENSG00000198130	4908	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.6)	.	HIBCH_HUMAN	HIBCH	HGNC	B9A058_HUMAN	.	UPI000013F16E	SNV	HIBCH,missense_variant,p.Ser104Ala,ENST00000359678,;HIBCH,missense_variant,p.Ser104Ala,ENST00000392332,;HIBCH,missense_variant,p.Ser158Ala,ENST00000409934,;HIBCH,missense_variant,p.Ser3Ala,ENST00000392333,;	605	114	112	SUCCESS
MYO1B	4430	.	GRCh37	2	192160953	192160953	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	56	130	0	ENST00000304164.4:c.251+1G>T		p.X84_splice	ENST00000304164	NM_001161819.1	84		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46477.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATGTAAGT	NONE	.	.	.	.	.	ENSP00000376132	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392318	Transcript	.	.	ENSG00000128641	7596	.	.	HIGH	3/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO1B_HUMAN	MYO1B	HGNC	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN	.	UPI00001A9466	SNV	MYO1B,splice_donor_variant,,ENST00000392316,;MYO1B,splice_donor_variant,,ENST00000438652,;MYO1B,splice_donor_variant,,ENST00000339514,;MYO1B,splice_donor_variant,,ENST00000418908,;MYO1B,splice_donor_variant,,ENST00000304164,;MYO1B,splice_donor_variant,,ENST00000451437,;MYO1B,splice_donor_variant,,ENST00000392318,;MYO1B,downstream_gene_variant,,ENST00000420448,;MYO1B,splice_donor_variant,,ENST00000471904,;	.	130	136	SUCCESS
SLC39A10	57181	.	GRCh37	2	196593015	196593015	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	297	49	352	0	ENST00000359634.5:c.2279C>A	p.Thr760Lys	p.T760K	ENST00000359634	NM_020342.2	760	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS33353.1	2279	RADIA|MUTECT|MUSE|VARSCANS	.	CATCACACTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000386766	.	9/10	.	.	.	.	.	.	.	.	COSM3364464	9/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Thr760Lys,ENST00000409086,;SLC39A10,missense_variant,p.Thr310Lys,ENST00000541054,;SLC39A10,missense_variant,p.Thr760Lys,ENST00000359634,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;	2554	353	346	SUCCESS
DNAH7	56171	.	GRCh37	2	196825086	196825086	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	67	0	ENST00000312428.6:c.2789T>C	p.Leu930Ser	p.L930S	ENST00000312428	NM_018897.2	930	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS42794.1	2789	RADIA|MUTECT|VARSCANS	.	ATGCCAAAATA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000311273	.	18/65	.	.	.	.	.	.	.	.	.	18/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Leu930Ser,ENST00000312428,;	2890	67	82	SUCCESS
SF3B1	23451	.	GRCh37	2	198267360	198267360	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs374250186	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	16	240	0	ENST00000335508.6:c.1997A>C	p.Lys666Thr	p.K666T	ENST00000335508	NM_012433.2	666	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33356.1	1997	MUTECT|MUSE	.	CAATCTTAATA	SITE|p.K666T|c.1997A>C|13,CODON|p.K666N|c.1998G>T|17,CODON|p.K666N|c.1998G>C|13,CODON|p.K666R|c.1997A>G|9,CODON|p.K666M|c.1997A>T|8,BUFFER|p.K666E|c.1996A>G|17,BUFFER|p.K666Q|c.1996A>C|3,BUFFER|p.T663I|c.1988C>T|5,BUFFER|p.H662Q|c.1986C>G|20,BUFFER|p.H662Q|c.1986C>A|9	.	.	hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	14/25	.	.	.	.	.	.	.	.	COSM110698,COSM131553,COSM131556	14/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.994)	.	deleterious(0)	1,1,1	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Lys666Thr,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	2089	240	212	SUCCESS
DYTN	391475	.	GRCh37	2	207530732	207530732	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	17	271	0	ENST00000452335.2:c.1002C>A	p.Asn334Lys	p.N334K	ENST00000452335	NM_001093730.1	334	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46502.1	1002	MUTECT|MUSE|VARSCANS	.	TATTGGTTTAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	.	.	ENSP00000396593	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000452335	Transcript	.	.	ENSG00000232125	23279	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.06)	.	DYTN_HUMAN	DYTN	HGNC	.	.	UPI0000EE0AB9	SNV	DYTN,missense_variant,p.Asn334Lys,ENST00000452335,;	1119	271	194	SUCCESS
IDH1	3417	.	GRCh37	2	209113113	209113113	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913499	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	230	16	215	0	ENST00000345146.2:c.394C>T	p.Arg132Cys	p.R132C	ENST00000345146	NM_005896.2	132	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2381.1	394	MUTECT|MUSE	.	ATGACGACCTA	SITE|p.R132C|c.394C>T|587,CODON|p.R132H|c.395_396GT>AC|4,CODON|p.R132S|c.394_395CG>TC|6,CODON|p.R132H|c.395G>A|3975,CODON|p.R132L|c.395G>T|82,BUFFER|p.R132S|c.394C>A|145,BUFFER|p.R132G|c.394C>G|164	byCluster	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	4/10	.	.	.	.	.	.	.	.	rs121913499,COSM28749,COSM28747,COSM28748	4/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	possibly_damaging(0.907)	.	deleterious_low_confidence(0.03)	0,1,1,1	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Arg132Cys,ENST00000345146,;IDH1,missense_variant,p.Arg132Cys,ENST00000415913,;IDH1,missense_variant,p.Arg132Cys,ENST00000446179,;IDH1,missense_variant,p.Arg132Cys,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	776	215	247	SUCCESS
APOB	338	.	GRCh37	2	21231053	21231053	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	210	11	261	0	ENST00000233242.1:c.8687C>T	p.Pro2896Leu	p.P2896L	ENST00000233242	NM_000384.2	2896	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1703.1	8687	MUTECT|MUSE	.	GTTTGGGGATG	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Pro2896Leu,ENST00000233242,;	8815	261	222	SUCCESS
ERBB4	2066	.	GRCh37	2	212615384	212615384	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	14	78	0	ENST00000342788.4:c.602C>A	p.Thr201Lys	p.T201K	ENST00000342788	NM_005235.2	201	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS2394.1	602	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGTGGGT	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF00757,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF52058	.	.	ENSP00000342235	.	5/28	.	.	.	.	.	.	.	.	COSM1016000	5/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.001)	.	tolerated(0.15)	1	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Thr201Lys,ENST00000402597,;ERBB4,missense_variant,p.Thr201Lys,ENST00000436443,;ERBB4,missense_variant,p.Thr201Lys,ENST00000260943,;ERBB4,missense_variant,p.Thr201Lys,ENST00000342788,;ERBB4,downstream_gene_variant,,ENST00000435846,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484474,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	913	78	108	SUCCESS
ABCA12	26154	.	GRCh37	2	215823013	215823013	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	14	140	0	ENST00000272895.7:c.6105C>A	p.Phe2035Leu	p.F2035L	ENST00000272895	NM_173076.2	2035	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS33372.1	6105	RADIA|MUTECT|MUSE|VARSCANS	.	TAAATGAAGTT	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	41/53	.	.	.	.	.	.	.	.	.	41/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.439)	.	deleterious(0.03)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Phe1717Leu,ENST00000389661,;ABCA12,missense_variant,p.Phe2035Leu,ENST00000272895,;AC072062.1,intron_variant,,ENST00000607412,;AC072062.1,upstream_gene_variant,,ENST00000420134,;	6325	140	126	SUCCESS
ABCA12	26154	.	GRCh37	2	215843664	215843664	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	281	20	188	0	ENST00000272895.7:c.4841G>A	p.Gly1614Glu	p.G1614E	ENST00000272895	NM_173076.2	1614	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33372.1	4841	MUTECT|MUSE	.	GCTCTCCCCCA	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	32/53	.	.	.	.	.	.	.	.	.	32/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Gly1296Glu,ENST00000389661,;ABCA12,missense_variant,p.Gly1614Glu,ENST00000272895,;	5061	188	301	SUCCESS
FAM124B	79843	.	GRCh37	2	225266346	225266346	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs901948091	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	25	78	0	ENST00000409685.3:c.140G>C	p.Arg47Pro	p.R47P	ENST00000409685	NM_001122779.1	47	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS46527.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCGTTCA	NONE	.	.	hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715,Pfam_domain:PF15067	.	.	ENSP00000386895	.	1/2	.	.	.	.	.	.	.	.	COSM1482806,COSM1482805	1/2	PASS	ENST00000409685	Transcript	.	.	ENSG00000124019	26224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.935)	.	deleterious(0)	1,1	F124B_HUMAN	FAM124B	HGNC	.	.	UPI00002096DA	SNV	FAM124B,missense_variant,p.Arg47Pro,ENST00000409685,;FAM124B,missense_variant,p.Arg47Pro,ENST00000389874,;FAM124B,missense_variant,p.Arg47Pro,ENST00000243806,;	406	79	112	SUCCESS
SLC19A3	80704	.	GRCh37	2	228560620	228560620	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	79	0	ENST00000258403.3:c.1157T>C	p.Leu386Pro	p.L386P	ENST00000258403	NM_025243.3	386	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2468.1	1157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATAAGAAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF17,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500795,Superfamily_domains:SSF103473	.	.	ENSP00000258403	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000258403	Transcript	.	.	ENSG00000135917	16266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	S19A3_HUMAN	SLC19A3	HGNC	C9J4J5_HUMAN,C9IZI1_HUMAN,B8ZZ39_HUMAN	.	UPI000004DAE9	SNV	SLC19A3,missense_variant,p.Leu386Pro,ENST00000258403,;SLC19A3,missense_variant,p.Leu382Pro,ENST00000541617,;SLC19A3,intron_variant,,ENST00000409287,;SLC19A3,downstream_gene_variant,,ENST00000419059,;SLC19A3,downstream_gene_variant,,ENST00000409456,;SLC19A3,downstream_gene_variant,,ENST00000456524,;SLC19A3,missense_variant,p.Leu386Pro,ENST00000425817,;SLC19A3,downstream_gene_variant,,ENST00000431622,;	1229	79	83	SUCCESS
LINC00471	151477	.	GRCh37	2	232373893	232373893	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	67	358	0	ENST00000313064.2:n.526G>T		p.*176*	ENST00000313064				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCCTGTC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	COSM573848	3/3	PASS	ENST00000313064	Transcript	.	.	ENSG00000181798	28668	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	LINC00471	HGNC	.	.	.	SNV	LINC00471,non_coding_transcript_exon_variant,,ENST00000313064,;	526	358	217	SUCCESS
USP40	55230	.	GRCh37	2	234394446	234394446	+	synonymous_variant	Silent	SNP	G	G	A	rs542793420	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	98	279	0	ENST00000251722.6:c.3372C>T	p.Pro1124=	p.P1124=	ENST00000251722		1124	ccC/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS46547.1	3408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCGGGAAA	NONE	by1000G	.	.	A:0.001	.	ENSP00000415434	A:0	28/31	.	.	.	.	.	.	.	.	rs542793420	28/31	PASS	ENST00000450966	Transcript	.	A:0.0002	ENSG00000085982	20069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,synonymous_variant,p.%3D,ENST00000251722,;USP40,synonymous_variant,p.%3D,ENST00000454354,;USP40,synonymous_variant,p.%3D,ENST00000450966,;USP40,synonymous_variant,p.%3D,ENST00000427112,;USP40,downstream_gene_variant,,ENST00000430158,;USP40,non_coding_transcript_exon_variant,,ENST00000496298,;USP40,upstream_gene_variant,,ENST00000464956,;USP40,3_prime_UTR_variant,,ENST00000450940,;USP40,non_coding_transcript_exon_variant,,ENST00000473191,;USP40,non_coding_transcript_exon_variant,,ENST00000483519,;	3408	280	242	SUCCESS
COL6A3	1293	.	GRCh37	2	238249117	238249117	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	42	0	ENST00000295550.4:c.8442G>A	p.Arg2814=	p.R2814=	ENST00000295550	NM_004369.3	2814	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33412.1	8442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCCTCCC	NONE	.	.	PROSITE_profiles:PS50234,SMART_domains:SM00327	.	.	ENSP00000295550	.	38/44	.	.	.	.	.	.	.	.	.	38/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,synonymous_variant,p.%3D,ENST00000472056,;COL6A3,synonymous_variant,p.%3D,ENST00000409809,;COL6A3,synonymous_variant,p.%3D,ENST00000295550,;COL6A3,synonymous_variant,p.%3D,ENST00000347401,;COL6A3,synonymous_variant,p.%3D,ENST00000346358,;COL6A3,synonymous_variant,p.%3D,ENST00000353578,;COL6A3,non_coding_transcript_exon_variant,,ENST00000468792,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;	8895	42	43	SUCCESS
UBXN2A	165324	.	GRCh37	2	24194229	24194229	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	11	108	0	ENST00000309033.4:c.125A>T	p.Glu42Val	p.E42V	ENST00000309033	NM_181713.3	42	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS1704.1	125	MUTECT|MUSE|VARSCANS	.	TTTTGAGGAAG	NONE	.	.	hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF16	.	.	ENSP00000312107	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000309033	Transcript	.	.	ENSG00000173960	27265	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	UBX2A_HUMAN	UBXN2A	HGNC	.	.	UPI00001616AE	SNV	UBXN2A,missense_variant,p.Glu42Val,ENST00000535786,;UBXN2A,missense_variant,p.Glu42Val,ENST00000309033,;UBXN2A,missense_variant,p.Glu42Val,ENST00000404924,;UBXN2A,non_coding_transcript_exon_variant,,ENST00000446425,;UBXN2A,upstream_gene_variant,,ENST00000479859,;	369	108	99	SUCCESS
TRIM54	57159	.	GRCh37	2	27528584	27528584	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753597613	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	30	62	0	ENST00000380075.2:c.742G>C	p.Gly248Arg	p.G248R	ENST00000380075	NM_187841.2	248	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS1745.2	868	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGGCCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318	.	.	ENSP00000296098	.	6/10	.	.	.	.	.	.	.	.	rs753597613	6/10	PASS	ENST00000296098	Transcript	.	.	ENSG00000138100	16008	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.825)	.	deleterious(0.02)	.	TRI54_HUMAN	TRIM54	HGNC	.	.	UPI000020814F	SNV	TRIM54,missense_variant,p.Gly290Arg,ENST00000296098,;TRIM54,missense_variant,p.Gly248Arg,ENST00000380075,;MPV17,downstream_gene_variant,,ENST00000405076,;MPV17,downstream_gene_variant,,ENST00000380044,;UCN,downstream_gene_variant,,ENST00000296099,;MPV17,downstream_gene_variant,,ENST00000435114,;MPV17,downstream_gene_variant,,ENST00000402722,;MPV17,downstream_gene_variant,,ENST00000357186,;MPV17,downstream_gene_variant,,ENST00000233545,;MPV17,downstream_gene_variant,,ENST00000402310,;MPV17,downstream_gene_variant,,ENST00000430991,;MPV17,downstream_gene_variant,,ENST00000405983,;TRIM54,non_coding_transcript_exon_variant,,ENST00000485306,;TRIM54,non_coding_transcript_exon_variant,,ENST00000488321,;MPV17,downstream_gene_variant,,ENST00000426513,;MPV17,downstream_gene_variant,,ENST00000415514,;MPV17,downstream_gene_variant,,ENST00000489478,;	1138	62	151	SUCCESS
TRMT61B	55006	.	GRCh37	2	29075273	29075273	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1443438783	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	9	182	0	ENST00000306108.5:c.1085+1G>A		p.X362_splice	ENST00000306108	NM_017910.3	362		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1768.1	.	MUTECT|MUSE	.	ACTCACTTTAC	NONE	.	.	.	.	.	ENSP00000302801	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306108	Transcript	.	.	ENSG00000171103	26070	.	.	HIGH	4/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TR61B_HUMAN	TRMT61B	HGNC	.	.	UPI000006D28C	SNV	TRMT61B,splice_donor_variant,,ENST00000306108,;SPDYA,downstream_gene_variant,,ENST00000334056,;SPDYA,downstream_gene_variant,,ENST00000439646,;TRMT61B,upstream_gene_variant,,ENST00000419999,;SPDYA,downstream_gene_variant,,ENST00000379579,;TRMT61B,splice_donor_variant,,ENST00000484060,;SPDYA,downstream_gene_variant,,ENST00000491044,;TRMT61B,splice_donor_variant,,ENST00000490390,;TRMT61B,splice_donor_variant,,ENST00000439947,;	.	182	138	SUCCESS
GALNT14	79623	.	GRCh37	2	31165150	31165150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	63	0	ENST00000349752.5:c.848G>T	p.Gly283Val	p.G283V	ENST00000349752	NM_024572.3	283	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS58706.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCCTCCA	BUFFER|p.F285F|c.855C>T|3	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Gene3D:3.90.550.10,Pfam_domain:PF02709,Superfamily_domains:SSF53448	.	.	ENSP00000314500	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000324589	Transcript	.	.	ENSG00000158089	22946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLT14_HUMAN	GALNT14	HGNC	.	.	UPI0000073A6F	SNV	GALNT14,missense_variant,p.Gly248Val,ENST00000420311,;GALNT14,missense_variant,p.Gly288Val,ENST00000324589,;GALNT14,missense_variant,p.Gly250Val,ENST00000430167,;GALNT14,missense_variant,p.Gly250Val,ENST00000356174,;GALNT14,missense_variant,p.Gly283Val,ENST00000349752,;GALNT14,missense_variant,p.Gly263Val,ENST00000406653,;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,intron_variant,,ENST00000464038,;GALNT14,intron_variant,,ENST00000455477,;GALNT14,downstream_gene_variant,,ENST00000424136,;	924	63	42	SUCCESS
GALNT14	79623	.	GRCh37	2	31165151	31165151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	60	0	ENST00000349752.5:c.847G>T	p.Gly283Trp	p.G283W	ENST00000349752	NM_024572.3	283	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS58706.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCTCCAG	BUFFER|p.F285F|c.855C>T|3	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Gene3D:3.90.550.10,Pfam_domain:PF02709,Superfamily_domains:SSF53448	.	.	ENSP00000314500	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000324589	Transcript	.	.	ENSG00000158089	22946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLT14_HUMAN	GALNT14	HGNC	.	.	UPI0000073A6F	SNV	GALNT14,missense_variant,p.Gly248Trp,ENST00000420311,;GALNT14,missense_variant,p.Gly288Trp,ENST00000324589,;GALNT14,missense_variant,p.Gly250Trp,ENST00000430167,;GALNT14,missense_variant,p.Gly250Trp,ENST00000356174,;GALNT14,missense_variant,p.Gly283Trp,ENST00000349752,;GALNT14,missense_variant,p.Gly263Trp,ENST00000406653,;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,intron_variant,,ENST00000464038,;GALNT14,intron_variant,,ENST00000455477,;GALNT14,downstream_gene_variant,,ENST00000424136,;	923	60	40	SUCCESS
SRSF7	6432	.	GRCh37	2	38976737	38976737	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1018971891	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	16	219	1	ENST00000313117.6:c.320A>G	p.Tyr107Cys	p.Y107C	ENST00000313117	NM_001195446.1	107	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33183.1	320	MUTECT|MUSE	.	ACTCATAGCAT	NONE	.	.	PROSITE_profiles:PS50158,hmmpanther:PTHR10548,Gene3D:4.10.60.10,Superfamily_domains:SSF57756	.	.	ENSP00000325905	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000313117	Transcript	.	.	ENSG00000115875	10789	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SRSF7_HUMAN	SRSF7	HGNC	.	.	UPI000000D853	SNV	SRSF7,missense_variant,p.Tyr107Cys,ENST00000313117,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000446327,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000409276,;SRSF7,upstream_gene_variant,,ENST00000452806,;GEMIN6,upstream_gene_variant,,ENST00000409011,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000431066,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000425778,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000443213,;SRSF7,missense_variant,p.Tyr107Cys,ENST00000425941,;SRSF7,missense_variant,p.Tyr23Cys,ENST00000415527,;SRSF7,upstream_gene_variant,,ENST00000477635,;SRSF7,upstream_gene_variant,,ENST00000432873,;SRSF7,upstream_gene_variant,,ENST00000487773,;	558	220	275	SUCCESS
ABCG5	64240	.	GRCh37	2	44053584	44053584	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	9	97	0	ENST00000260645.1:c.711A>C	p.Glu237Asp	p.E237D	ENST00000260645	NM_022436.2	237	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS1814.1	711	MUTECT|MUSE	.	GCCAGTTCCAC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF193,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000260645	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000260645	Transcript	.	.	ENSG00000138075	13886	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.128)	.	tolerated(0.21)	.	ABCG5_HUMAN	ABCG5	HGNC	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN	.	UPI0000046560	SNV	ABCG5,missense_variant,p.Glu237Asp,ENST00000260645,;ABCG5,intron_variant,,ENST00000405322,;ABCG5,intron_variant,,ENST00000543989,;ABCG5,intron_variant,,ENST00000486512,;ABCG5,intron_variant,,ENST00000409962,;	851	97	131	SUCCESS
SPTBN1	6711	.	GRCh37	2	54855371	54855371	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761403914	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	72	0	ENST00000356805.4:c.1782C>G	p.Phe594Leu	p.F594L	ENST00000356805	NM_003128.2	594	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS33198.1	1782	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCGCAAC	NONE	byFrequency	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	13/36	.	.	.	.	.	.	.	.	rs761403914	13/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Phe581Leu,ENST00000333896,;SPTBN1,missense_variant,p.Phe594Leu,ENST00000356805,;SPTBN1,missense_variant,p.Phe594Leu,ENST00000389980,;	2063	72	56	SUCCESS
CCDC88A	55704	.	GRCh37	2	55582881	55582881	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	64	0	ENST00000436346.1:c.634A>G	p.Ile212Val	p.I212V	ENST00000436346	NM_001135597.1	212	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46288.1	634	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATGATAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30,Pfam_domain:PF05622	.	.	ENSP00000338728	.	8/33	.	.	.	.	.	.	.	.	COSM1614966,COSM1614965	8/33	PASS	ENST00000336838	Transcript	.	.	ENSG00000115355	25523	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.001)	.	tolerated(1)	1,1	GRDN_HUMAN	CCDC88A	HGNC	C9J225_HUMAN,B4DSN0_HUMAN	.	UPI00005B7220	SNV	CCDC88A,missense_variant,p.Ile212Val,ENST00000413716,;CCDC88A,missense_variant,p.Ile212Val,ENST00000336838,;CCDC88A,missense_variant,p.Ile137Val,ENST00000430086,;CCDC88A,missense_variant,p.Ile212Val,ENST00000436346,;CCDC88A,missense_variant,p.Ile212Val,ENST00000263630,;	1168	64	76	SUCCESS
MDH1	4190	.	GRCh37	2	63824634	63824634	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	99	244	0	ENST00000233114.8:c.301T>A	p.Leu101Ile	p.L101I	ENST00000233114	NM_005917.3	101	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS56121.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATTTACTG	NONE	.	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000102,Pfam_domain:PF00056,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01759,TIGRFAM_domain:TIGR01758,hmmpanther:PTHR23382,HAMAP:MF_01517	.	.	ENSP00000438144	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000539945	Transcript	.	.	ENSG00000014641	6970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MDHC_HUMAN	MDH1	HGNC	C9JRL4_HUMAN,C9JF79_HUMAN	.	UPI0001E92A3D	SNV	MDH1,missense_variant,p.Leu119Ile,ENST00000539945,;MDH1,missense_variant,p.Leu56Ile,ENST00000436321,;MDH1,missense_variant,p.Leu101Ile,ENST00000233114,;MDH1,missense_variant,p.Leu102Ile,ENST00000454035,;MDH1,missense_variant,p.Leu12Ile,ENST00000544381,;MDH1,missense_variant,p.Leu119Ile,ENST00000432309,;MDH1,missense_variant,p.Leu101Ile,ENST00000394423,;MDH1,intron_variant,,ENST00000409476,;MDH1,intron_variant,,ENST00000409908,;MDH1,downstream_gene_variant,,ENST00000442225,;WDPCP,intron_variant,,ENST00000490935,;WDPCP,intron_variant,,ENST00000467687,;MDH1,synonymous_variant,p.%3D,ENST00000421012,;MDH1,non_coding_transcript_exon_variant,,ENST00000485781,;MDH1,non_coding_transcript_exon_variant,,ENST00000472098,;MDH1,downstream_gene_variant,,ENST00000485155,;MDH1,upstream_gene_variant,,ENST00000484538,;	450	244	249	SUCCESS
MEIS1	4211	.	GRCh37	2	66667100	66667100	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs561384504	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	5	90	0	ENST00000272369.9:c.365C>A	p.Ala122Asp	p.A122D	ENST00000272369	NM_002398.2	122	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS46309.1	365	MUTECT|MUSE	.	TATAGCCGTGT	NONE	byCluster	.	hmmpanther:PTHR11850:SF63,hmmpanther:PTHR11850	.	.	ENSP00000272369	.	3/13	.	.	.	.	.	.	.	.	rs561384504	3/13	PASS	ENST00000272369	Transcript	.	.	ENSG00000143995	7000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.641)	.	tolerated(0.05)	.	MEIS1_HUMAN	MEIS1	HGNC	Q8IZZ2_HUMAN,Q53RD5_HUMAN,Q53R57_HUMAN	.	UPI000000DA5A	SNV	MEIS1,missense_variant,p.Ala122Asp,ENST00000488550,;MEIS1,missense_variant,p.Ala122Asp,ENST00000560281,;MEIS1,missense_variant,p.Ala57Asp,ENST00000495021,;MEIS1,missense_variant,p.Ala90Asp,ENST00000444274,;MEIS1,missense_variant,p.Ala122Asp,ENST00000407092,;MEIS1,missense_variant,p.Ala120Asp,ENST00000398506,;MEIS1,missense_variant,p.Ala122Asp,ENST00000272369,;MEIS1,upstream_gene_variant,,ENST00000606455,;MEIS1,upstream_gene_variant,,ENST00000437869,;AC092669.1,intron_variant,,ENST00000454595,;MEIS1-AS2,intron_variant,,ENST00000439433,;MEIS1,non_coding_transcript_exon_variant,,ENST00000490726,;MEIS1,downstream_gene_variant,,ENST00000496248,;MEIS1,intron_variant,,ENST00000491706,;MEIS1,upstream_gene_variant,,ENST00000498705,;MEIS1,upstream_gene_variant,,ENST00000466811,;MEIS1,upstream_gene_variant,,ENST00000409622,;	822	90	70	SUCCESS
GMCL1	64395	.	GRCh37	2	70066643	70066643	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147534979	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	393	15	426	0	ENST00000282570.3:c.439A>G	p.Ile147Val	p.I147V	ENST00000282570	NM_178439.3	147	Att/Gtt	0	G:0.0018	G:0.0023	.	G:0	.	G	I/V	protein_coding	YES	CCDS1895.1	439	MUTECT|MUSE	.	TGAATATTATT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50097,hmmpanther:PTHR23231:SF11,hmmpanther:PTHR23231,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	G:0	G:0	ENSP00000282570	G:0	3/14	.	.	.	.	.	.	.	.	rs147534979	3/14	PASS	ENST00000282570	Transcript	.	G:0.0006	ENSG00000087338	23843	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	G:0	tolerated(0.57)	.	GMCL1_HUMAN	GMCL1	HGNC	Q53SE7_HUMAN	.	UPI00000704BE	SNV	GMCL1,missense_variant,p.Ile147Val,ENST00000282570,;GMCL1,non_coding_transcript_exon_variant,,ENST00000468386,;GMCL1,upstream_gene_variant,,ENST00000471404,;	690	426	408	SUCCESS
C2orf42	54980	.	GRCh37	2	70408657	70408657	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747637155	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	39	0	ENST00000264434.2:c.461C>T	p.Ser154Leu	p.S154L	ENST00000264434	NM_017880.1	154	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1899.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGAGCTC	NONE	.	.	hmmpanther:PTHR13518	.	.	ENSP00000264434	.	3/10	.	.	.	.	.	.	.	.	rs747637155	3/10	PASS	ENST00000264434	Transcript	.	.	ENSG00000115998	26056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	CB042_HUMAN	C2orf42	HGNC	C9JZF3_HUMAN,C9JV10_HUMAN,C9JS43_HUMAN,C9JKD5_HUMAN,C9JK51_HUMAN,C9JJF4_HUMAN,C9J5U1_HUMAN,C9J4L7_HUMAN	.	UPI0000037CF2	SNV	C2orf42,missense_variant,p.Ser154Leu,ENST00000420306,;C2orf42,missense_variant,p.Ser154Leu,ENST00000264434,;C2orf42,missense_variant,p.Ser154Leu,ENST00000447804,;C2orf42,missense_variant,p.Ser154Leu,ENST00000417865,;C2orf42,downstream_gene_variant,,ENST00000425268,;C2orf42,downstream_gene_variant,,ENST00000428010,;C2orf42,downstream_gene_variant,,ENST00000457952,;C2orf42,downstream_gene_variant,,ENST00000417203,;C2orf42,downstream_gene_variant,,ENST00000428751,;C2orf42,downstream_gene_variant,,ENST00000419381,;C2orf42,downstream_gene_variant,,ENST00000487560,;C2orf42,downstream_gene_variant,,ENST00000470096,;C2orf42,downstream_gene_variant,,ENST00000464505,;C2orf42,downstream_gene_variant,,ENST00000495353,;	841	39	46	SUCCESS
CLEC4F	165530	.	GRCh37	2	71047619	71047619	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs575554427	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	19	73	0	ENST00000272367.2:c.37C>A	p.Gln13Lys	p.Q13K	ENST00000272367	NM_001258027.1	13	Cag/Aag	0	.	C:0	.	C:0	.	T	Q/K	protein_coding	YES	CCDS1910.1	37	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGGTTAT	NONE	by1000G	.	.	C:0	.	ENSP00000272367	C:0	1/7	.	.	.	.	.	.	.	.	rs575554427	1/7	PASS	ENST00000272367	Transcript	.	C:0.0002	ENSG00000152672	25357	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.687)	C:0.001	deleterious(0.01)	.	CLC4F_HUMAN	CLEC4F	HGNC	.	.	UPI0000376BCC	SNV	CLEC4F,missense_variant,p.Gln13Lys,ENST00000426626,;CLEC4F,missense_variant,p.Gln13Lys,ENST00000272367,;	114	73	120	SUCCESS
POLR1A	25885	.	GRCh37	2	86259502	86259502	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	196	0	ENST00000263857.6:c.4165G>T	p.Glu1389Ter	p.E1389*	ENST00000263857		1389	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42706.1	4165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCTCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484	.	.	ENSP00000263857	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000263857	Transcript	.	.	ENSG00000068654	17264	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPA1_HUMAN	POLR1A	HGNC	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN	.	UPI0000D7DB86	SNV	POLR1A,stop_gained,p.Glu1389Ter,ENST00000409681,;POLR1A,stop_gained,p.Glu1389Ter,ENST00000263857,;POLR1A,non_coding_transcript_exon_variant,,ENST00000492034,;POLR1A,non_coding_transcript_exon_variant,,ENST00000496892,;POLR1A,upstream_gene_variant,,ENST00000471427,;	4544	196	107	SUCCESS
IGKV1D-42	28892	.	GRCh37	2	90229476	90229476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	73	168	1	ENST00000390278.2:c.296G>T	p.Ser99Ile	p.S99I	ENST00000390278		99	aGc/aTc	0	.	.	.	.	.	T	S/I	IG_V_gene	YES	.	296	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CATCAGCCTGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,PROSITE_profiles:PS50835	.	.	ENSP00000374813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390278	Transcript	.	.	ENSG00000211633	5757	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.83)	.	deleterious(0.01)	.	.	IGKV1D-42	HGNC	A2NXD2_HUMAN	.	UPI0000116190	SNV	IGKV1D-42,missense_variant,p.Ser99Ile,ENST00000390278,;	316	170	170	SUCCESS
TRMT10C	54931	.	GRCh37	3	101283884	101283884	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	14	114	0	ENST00000309922.6:c.259G>A	p.Asp87Asn	p.D87N	ENST00000309922	NM_017819.3	87	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43122.1	259	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAGGATGAA	NONE	.	.	hmmpanther:PTHR13563,hmmpanther:PTHR13563:SF5	.	.	ENSP00000312356	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309922	Transcript	.	.	ENSG00000174173	26022	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	deleterious(0.02)	.	MRRP1_HUMAN	TRMT10C	HGNC	C9JVB6_HUMAN	.	UPI0000034E2A	SNV	TRMT10C,missense_variant,p.Asp87Asn,ENST00000495642,;TRMT10C,missense_variant,p.Asp87Asn,ENST00000309922,;	413	114	145	SUCCESS
ATP2B2	491	.	GRCh37	3	10443888	10443888	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	68	0	ENST00000352432.4:c.542G>T	p.Gly181Val	p.G181V	ENST00000352432		181	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33701.1	542	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCCCCGG	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,Gene3D:2.70.150.10,Superfamily_domains:0049473	.	.	ENSP00000353414	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Gly181Val,ENST00000343816,;ATP2B2,missense_variant,p.Gly181Val,ENST00000360273,;ATP2B2,missense_variant,p.Gly181Val,ENST00000383800,;ATP2B2,missense_variant,p.Gly181Val,ENST00000352432,;ATP2B2,missense_variant,p.Gly181Val,ENST00000397077,;ATP2B2,missense_variant,p.Gly68Val,ENST00000452124,;ATP2B2,missense_variant,p.Gly181Val,ENST00000460129,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000480680,;	981	68	90	SUCCESS
IFT57	55081	.	GRCh37	3	107937444	107937444	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	81	218	2	ENST00000264538.3:c.432A>G	p.Val144=	p.V144=	ENST00000264538	NM_018010.3	144	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2951.1	432	RADIA|VARSCANS	.	TAGCATACATG	NONE	.	.	hmmpanther:PTHR16011,Pfam_domain:PF10498	.	.	ENSP00000264538	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000264538	Transcript	.	.	ENSG00000114446	17367	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFT57_HUMAN	IFT57	HGNC	.	.	UPI0000039E8B	SNV	IFT57,synonymous_variant,p.%3D,ENST00000264538,;IFT57,downstream_gene_variant,,ENST00000492106,;IFT57,3_prime_UTR_variant,,ENST00000478157,;IFT57,non_coding_transcript_exon_variant,,ENST00000485979,;IFT57,non_coding_transcript_exon_variant,,ENST00000465024,;	680	221	193	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111797619	111797619	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759865349	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	13	136	0	ENST00000452346.2:c.2255C>T	p.Ala752Val	p.A752V	ENST00000452346		752	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43129.2	1877	MUTECT|MUSE	.	GCAAGCGGAGG	NONE	byFrequency	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000411645	.	15/16	.	.	.	.	.	.	.	.	rs759865349	15/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.606)	.	deleterious(0)	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,missense_variant,p.Ala752Val,ENST00000452346,;TMPRSS7,missense_variant,p.Ala626Val,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	1959	136	211	SUCCESS
GTF2E1	2960	.	GRCh37	3	120469757	120469757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	12	95	0	ENST00000283875.5:c.358G>A	p.Asp120Asn	p.D120N	ENST00000283875	NM_005513.2	120	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS3002.1	358	MUTECT|MUSE	.	AGAGAGATTCG	NONE	.	.	hmmpanther:PTHR13097,hmmpanther:PTHR13097:SF6,Pfam_domain:PF02002,Gene3D:3.30.40.10,SMART_domains:SM00531,Superfamily_domains:SSF57783	.	.	ENSP00000283875	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000283875	Transcript	.	.	ENSG00000153767	4650	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.175)	.	tolerated(0.11)	.	T2EA_HUMAN	GTF2E1	HGNC	Q53F88_HUMAN,Q05DN6_HUMAN,E9PER7_HUMAN,C9J329_HUMAN,C9IYL4_HUMAN	.	UPI000013DD5F	SNV	GTF2E1,missense_variant,p.Asp120Asn,ENST00000492959,;GTF2E1,missense_variant,p.Asp120Asn,ENST00000283875,;GTF2E1,intron_variant,,ENST00000469772,;GTF2E1,downstream_gene_variant,,ENST00000484715,;GTF2E1,non_coding_transcript_exon_variant,,ENST00000497393,;	451	95	162	SUCCESS
SEMA5B	54437	.	GRCh37	3	122629075	122629075	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369693926	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	454	24	405	0	ENST00000357599.3:c.3371C>T	p.Thr1124Met	p.T1124M	ENST00000357599	NM_001256348.1	1124	aCg/aTg	0	A:0.0002	.	.	.	.	A	T/M	protein_coding	YES	CCDS58848.1	3533	MUTECT|MUSE	.	TAGTCGTGTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036	.	A:0	ENSP00000389588	.	23/23	.	.	.	.	.	.	.	.	rs369693926	23/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious_low_confidence(0.01)	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,missense_variant,p.Thr170Met,ENST00000451541,;SEMA5B,missense_variant,p.Thr1124Met,ENST00000357599,;SEMA5B,missense_variant,p.Thr1178Met,ENST00000451055,;SEMA5B,3_prime_UTR_variant,,ENST00000195173,;SEMA5B,downstream_gene_variant,,ENST00000393583,;SEMA5B,3_prime_UTR_variant,,ENST00000475244,;	3544	405	478	SUCCESS
KALRN	8997	.	GRCh37	3	124165646	124165646	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	11	94	0	ENST00000240874.3:c.3460C>G	p.Leu1154Val	p.L1154V	ENST00000240874	NM_003947.4	1154	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3027.1	3460	RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCTCTCA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000240874	.	21/34	.	.	.	.	.	.	.	.	.	21/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.101)	.	deleterious(0.02)	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,missense_variant,p.Leu1154Val,ENST00000240874,;KALRN,missense_variant,p.Leu1145Val,ENST00000460856,;KALRN,missense_variant,p.Leu1123Val,ENST00000354186,;KALRN,missense_variant,p.Leu1154Val,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;	3617	94	105	SUCCESS
RAB7A	7879	.	GRCh37	3	128516808	128516808	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	7	181	0	ENST00000265062.3:c.76A>G	p.Asn26Asp	p.N26D	ENST00000265062	NM_004637.5	26	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3052.1	76	MUTECT|MUSE	.	TCATGAACCAG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24073:SF320,hmmpanther:PTHR24073,PROSITE_profiles:PS51419	.	.	ENSP00000265062	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000265062	Transcript	.	.	ENSG00000075785	9788	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.129)	.	deleterious(0.02)	.	RAB7A_HUMAN	RAB7A	HGNC	C9J592_HUMAN	.	UPI0000001260	SNV	RAB7A,missense_variant,p.Asn26Asp,ENST00000483906,;RAB7A,missense_variant,p.Asn26Asp,ENST00000490093,;RAB7A,missense_variant,p.Asn26Asp,ENST00000493186,;RAB7A,missense_variant,p.Asn26Asp,ENST00000482525,;RAB7A,missense_variant,p.Asn26Asp,ENST00000464496,;RAB7A,missense_variant,p.Asn26Asp,ENST00000265062,;RAB7A,missense_variant,p.Asn26Asp,ENST00000485280,;RAB7A,non_coding_transcript_exon_variant,,ENST00000491681,;RPS15AP16,downstream_gene_variant,,ENST00000472521,;	322	181	225	SUCCESS
PLXND1	23129	.	GRCh37	3	129275500	129275500	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	222	24	146	0	ENST00000324093.4:c.5621T>C	p.Met1874Thr	p.M1874T	ENST00000324093	NM_015103.2	1874	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS33854.1	5621	MUTECT|MUSE|VARSCANS	.	CTGCCATGGCC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337	.	.	ENSP00000317128	.	35/36	.	.	.	.	.	.	.	.	.	35/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.574)	.	deleterious(0)	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Met30Thr,ENST00000504689,;PLXND1,missense_variant,p.Met1874Thr,ENST00000324093,;PLXND1,missense_variant,p.Met218Thr,ENST00000506979,;PLXND1,3_prime_UTR_variant,,ENST00000393239,;PLXND1,3_prime_UTR_variant,,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000501038,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504524,;PLXND1,downstream_gene_variant,,ENST00000508630,;PLXND1,downstream_gene_variant,,ENST00000512807,;	5800	146	247	SUCCESS
PLXND1	23129	.	GRCh37	3	129279234	129279234	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201100072	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	14	97	0	ENST00000324093.4:c.5072G>A	p.Arg1691Gln	p.R1691Q	ENST00000324093	NM_015103.2	1691	cGg/cAg	0	.	G:0.0008	.	G:0	.	T	R/Q	protein_coding	YES	CCDS33854.1	5072	MUTECT|MUSE|VARSCANS	.	TCTGCCGGTGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337	G:0	.	ENSP00000317128	G:0	31/36	.	.	.	.	.	.	.	.	rs201100072	31/36	PASS	ENST00000324093	Transcript	.	G:0.0002	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.783)	G:0	deleterious(0.01)	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Arg1691Gln,ENST00000324093,;PLXND1,missense_variant,p.Arg1691Gln,ENST00000393239,;PLXND1,missense_variant,p.Arg35Gln,ENST00000506979,;PLXND1,upstream_gene_variant,,ENST00000504689,;PLXND1,missense_variant,p.Arg286Gln,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000512807,;PLXND1,non_coding_transcript_exon_variant,,ENST00000508630,;PLXND1,upstream_gene_variant,,ENST00000501038,;PLXND1,downstream_gene_variant,,ENST00000503166,;PLXND1,upstream_gene_variant,,ENST00000504524,;PLXND1,downstream_gene_variant,,ENST00000504979,;	5251	97	153	SUCCESS
COL6A6	131873	.	GRCh37	3	130286897	130286897	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	10	108	0	ENST00000358511.6:c.1850A>G	p.Lys617Arg	p.K617R	ENST00000358511	NM_001102608.1	617	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46911.1	1850	MUTECT|MUSE	.	TTGCAAAGAGA	NONE	.	.	hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.15)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Lys617Arg,ENST00000453409,;COL6A6,missense_variant,p.Lys617Arg,ENST00000358511,;	1881	108	144	SUCCESS
KY	339855	.	GRCh37	3	134348537	134348537	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	10	89	0	ENST00000423778.2:c.263G>T	p.Gly88Val	p.G88V	ENST00000423778	NM_178554.4	88	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46920.1	263	MUTECT|MUSE|VARSCANS	.	GTGTCCCTACA	NONE	.	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31	.	.	ENSP00000397598	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000423778	Transcript	.	.	ENSG00000174611	26576	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.804)	.	deleterious_low_confidence(0.01)	.	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,missense_variant,p.Gly88Val,ENST00000503669,;KY,missense_variant,p.Gly88Val,ENST00000423778,;KY,missense_variant,p.Gly67Val,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;EPHB1,intron_variant,,ENST00000467708,;EPHB1,downstream_gene_variant,,ENST00000472904,;KY,upstream_gene_variant,,ENST00000508041,;KY,splice_region_variant,,ENST00000506319,;	325	89	136	SUCCESS
CNTN6	27255	.	GRCh37	3	1371531	1371531	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1481833174	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	362	22	433	0	ENST00000350110.2:c.1276G>A	p.Asp426Asn	p.D426N	ENST00000350110	NM_014461.2	426	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2557.1	1276	MUTECT|MUSE	.	GTGGGGATATT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000407822	.	11/23	.	.	.	.	.	.	.	.	COSM280003	11/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.011)	.	tolerated(0.1)	1	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Asp354Asn,ENST00000539053,;CNTN6,missense_variant,p.Asp426Asn,ENST00000446702,;CNTN6,missense_variant,p.Asp426Asn,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	1903	433	384	SUCCESS
CNTN6	27255	.	GRCh37	3	1371532	1371532	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	365	22	432	0	ENST00000350110.2:c.1277A>T	p.Asp426Val	p.D426V	ENST00000350110	NM_014461.2	426	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2557.1	1277	MUTECT|MUSE	.	TGGGGATATTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000407822	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.632)	.	tolerated(0.08)	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Asp354Val,ENST00000539053,;CNTN6,missense_variant,p.Asp426Val,ENST00000446702,;CNTN6,missense_variant,p.Asp426Val,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	1904	432	388	SUCCESS
CEP70	80321	.	GRCh37	3	138219253	138219253	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	299	24	321	0	ENST00000264982.3:c.1525C>T	p.Leu509Phe	p.L509F	ENST00000264982	NM_024491.2	509	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3102.1	1525	MUTECT|MUSE	.	TAAGAGTTCTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594	.	.	ENSP00000264982	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000264982	Transcript	.	.	ENSG00000114107	29972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	CEP70_HUMAN	CEP70	HGNC	C9JZ04_HUMAN,C9J0F4_HUMAN	.	UPI000013D5A3	SNV	CEP70,missense_variant,p.Leu509Phe,ENST00000481834,;CEP70,missense_variant,p.Leu491Phe,ENST00000474781,;CEP70,missense_variant,p.Leu357Phe,ENST00000489254,;CEP70,missense_variant,p.Leu489Phe,ENST00000542237,;CEP70,missense_variant,p.Leu509Phe,ENST00000484888,;CEP70,missense_variant,p.Leu509Phe,ENST00000264982,;CEP70,upstream_gene_variant,,ENST00000459695,;	1792	321	323	SUCCESS
CLSTN2	64084	.	GRCh37	3	140281020	140281020	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	12	59	0	ENST00000458420.3:c.2082A>T	p.Leu694Phe	p.L694F	ENST00000458420	NM_022131.2	694	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS3112.1	2082	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTAGATTT	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3	.	.	ENSP00000402460	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Leu694Phe,ENST00000458420,;	2272	59	124	SUCCESS
TFDP2	7029	.	GRCh37	3	141678612	141678612	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	12	128	0	ENST00000489671.1:c.955G>T	p.Gly319Ter	p.G319*	ENST00000489671		319	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS54650.1	955	MUTECT|MUSE|VARSCANS	.	CATTCCCATCC	NONE	.	.	hmmpanther:PTHR12548,hmmpanther:PTHR12548:SF5,Pfam_domain:PF08781,PIRSF_domain:PIRSF009404,Superfamily_domains:SSF144074	.	.	ENSP00000420616	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000489671	Transcript	.	.	ENSG00000114126	11751	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TFDP2_HUMAN	TFDP2	HGNC	C9JTZ9_HUMAN,C9JNB6_HUMAN,C9JCY5_HUMAN,C9J5D5_HUMAN,C9J461_HUMAN	.	UPI0000136B56	SNV	TFDP2,stop_gained,p.Gly258Ter,ENST00000479040,;TFDP2,stop_gained,p.Gly259Ter,ENST00000467072,;TFDP2,stop_gained,p.Gly259Ter,ENST00000499676,;TFDP2,stop_gained,p.Gly291Ter,ENST00000397991,;TFDP2,stop_gained,p.Gly33Ter,ENST00000474279,;TFDP2,stop_gained,p.Gly259Ter,ENST00000310282,;TFDP2,stop_gained,p.Gly319Ter,ENST00000489671,;TFDP2,stop_gained,p.Gly243Ter,ENST00000317104,;TFDP2,stop_gained,p.Gly222Ter,ENST00000495310,;TFDP2,stop_gained,p.Gly183Ter,ENST00000477292,;TFDP2,stop_gained,p.Gly259Ter,ENST00000486111,;TFDP2,downstream_gene_variant,,ENST00000478006,;TFDP2,downstream_gene_variant,,ENST00000497579,;TFDP2,downstream_gene_variant,,ENST00000467667,;TFDP2,3_prime_UTR_variant,,ENST00000487734,;	1386	128	140	SUCCESS
TFDP2	7029	.	GRCh37	3	141678613	141678613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	12	126	0	ENST00000489671.1:c.954G>T	p.Met318Ile	p.M318I	ENST00000489671		318	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS54650.1	954	MUTECT|MUSE|VARSCANS	.	ATTCCCATCCG	NONE	.	.	hmmpanther:PTHR12548,hmmpanther:PTHR12548:SF5,Pfam_domain:PF08781,PIRSF_domain:PIRSF009404,Superfamily_domains:SSF144074	.	.	ENSP00000420616	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000489671	Transcript	.	.	ENSG00000114126	11751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.297)	.	deleterious(0.05)	.	TFDP2_HUMAN	TFDP2	HGNC	C9JTZ9_HUMAN,C9JNB6_HUMAN,C9JCY5_HUMAN,C9J5D5_HUMAN,C9J461_HUMAN	.	UPI0000136B56	SNV	TFDP2,missense_variant,p.Met257Ile,ENST00000479040,;TFDP2,missense_variant,p.Met258Ile,ENST00000467072,;TFDP2,missense_variant,p.Met258Ile,ENST00000499676,;TFDP2,missense_variant,p.Met290Ile,ENST00000397991,;TFDP2,missense_variant,p.Met32Ile,ENST00000474279,;TFDP2,missense_variant,p.Met258Ile,ENST00000310282,;TFDP2,missense_variant,p.Met318Ile,ENST00000489671,;TFDP2,missense_variant,p.Met242Ile,ENST00000317104,;TFDP2,missense_variant,p.Met221Ile,ENST00000495310,;TFDP2,missense_variant,p.Met182Ile,ENST00000477292,;TFDP2,missense_variant,p.Met258Ile,ENST00000486111,;TFDP2,downstream_gene_variant,,ENST00000478006,;TFDP2,downstream_gene_variant,,ENST00000497579,;TFDP2,downstream_gene_variant,,ENST00000467667,;TFDP2,3_prime_UTR_variant,,ENST00000487734,;	1385	126	142	SUCCESS
C3orf58	0	.	GRCh37	3	143704410	143704410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	7	146	0	ENST00000315691.3:c.683C>T	p.Pro228Leu	p.P228L	ENST00000315691	NM_173552.3	228	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3130.1	683	MUTECT|MUSE	.	TTGGCCATTTG	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6,Pfam_domain:PF12260	.	.	ENSP00000320081	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,missense_variant,p.Pro34Leu,ENST00000492452,;C3orf58,missense_variant,p.Pro228Leu,ENST00000315691,;C3orf58,missense_variant,p.Pro19Leu,ENST00000495414,;C3orf58,5_prime_UTR_variant,,ENST00000441925,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,non_coding_transcript_exon_variant,,ENST00000483808,;	1218	146	171	SUCCESS
CPB1	1360	.	GRCh37	3	148559613	148559613	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761204342	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	18	175	1	ENST00000282957.4:c.478G>A	p.Gly160Ser	p.G160S	ENST00000282957	NM_001871.2	160	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS33874.1	478	MUTECT|MUSE|VARSCANS	.	AGGTTGGCAAA	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000417222	.	7/12	.	.	.	.	.	.	.	.	rs761204342	7/12	PASS	ENST00000491148	Transcript	.	.	ENSG00000153002	2299	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	tolerated(0.14)	.	CBPB1_HUMAN	CPB1	HGNC	Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN	.	UPI00001271CD	SNV	CPB1,missense_variant,p.Gly126Ser,ENST00000468341,;CPB1,missense_variant,p.Gly160Ser,ENST00000282957,;CPB1,missense_variant,p.Gly160Ser,ENST00000491148,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	812	176	208	SUCCESS
CP	1356	.	GRCh37	3	148923993	148923993	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201036476	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	7	180	1	ENST00000264613.6:c.1170A>G	p.Ile390Met	p.I390M	ENST00000264613	NM_000096.3	390	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3141.1	1170	MUTECT|MUSE	.	ATGTCTATACC	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	6/19	.	.	.	.	.	.	.	.	rs201036476	6/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(0.24)	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,missense_variant,p.Ile390Met,ENST00000264613,;CP,missense_variant,p.Ile173Met,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Ile390Met,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	1433	181	189	SUCCESS
SUCNR1	56670	.	GRCh37	3	151598552	151598552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	30	195	0	ENST00000362032.5:c.221G>T	p.Cys74Phe	p.C74F	ENST00000362032	NM_033050.4	74	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS3162.1	221	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGCACCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF14,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01157	.	.	ENSP00000355156	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000362032	Transcript	.	.	ENSG00000198829	4542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	SUCR1_HUMAN	SUCNR1	HGNC	.	.	UPI0000072507	SNV	SUCNR1,missense_variant,p.Cys74Phe,ENST00000362032,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;	326	195	280	SUCCESS
GMPS	8833	.	GRCh37	3	155643090	155643090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	476	61	562	0	ENST00000496455.2:c.1495A>T	p.Met499Leu	p.M499L	ENST00000496455	NM_003875.2	499	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS46941.1	1495	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGATGCAA	NONE	.	.	Superfamily_domains:0047036,Gene3D:3.30.300.10,Pfam_domain:PF00958,hmmpanther:PTHR11922:SF2,hmmpanther:PTHR11922	.	.	ENSP00000419851	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000496455	Transcript	.	.	ENSG00000163655	4378	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.56)	.	GUAA_HUMAN	GMPS	HGNC	A8K639_HUMAN	.	UPI0000000CC6	SNV	GMPS,missense_variant,p.Met499Leu,ENST00000496455,;GMPS,missense_variant,p.Met400Leu,ENST00000295920,;	1830	562	537	SUCCESS
SHOX2	6474	.	GRCh37	3	157820591	157820591	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1313229623	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	11	253	0	ENST00000441443.2:c.44G>A	p.Arg15Gln	p.R15Q	ENST00000441443		15	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33884.2	503	MUTECT|MUSE	.	TGGTCCGACTT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF311,hmmpanther:PTHR24329,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000374240	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000389589	Transcript	.	.	ENSG00000168779	10854	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SHOX2_HUMAN	SHOX2	HGNC	.	.	UPI0000169EC9	SNV	SHOX2,missense_variant,p.Arg168Gln,ENST00000389589,;SHOX2,missense_variant,p.Arg15Gln,ENST00000490689,;SHOX2,missense_variant,p.Arg144Gln,ENST00000483851,;SHOX2,missense_variant,p.Arg144Gln,ENST00000425436,;SHOX2,missense_variant,p.Arg15Gln,ENST00000441443,;RSRC1,upstream_gene_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,non_coding_transcript_exon_variant,,ENST00000554685,;	639	253	200	SUCCESS
SI	6476	.	GRCh37	3	164750329	164750329	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	100	0	ENST00000264382.3:c.2717C>T	p.Thr906Ile	p.T906I	ENST00000264382	NM_001041.3	906	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3196.1	2717	MUTECT|MUSE	.	CATAAGTGAAA	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	24/48	.	.	.	.	.	.	.	.	.	24/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.06)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Thr906Ile,ENST00000264382,;	2780	100	104	SUCCESS
WDR49	151790	.	GRCh37	3	167250760	167250760	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	101	0	ENST00000308378.3:c.904T>G	p.Tyr302Asp	p.Y302D	ENST00000308378	NM_178824.3	302	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS3201.1	904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAACTCC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_patterns:PS00678,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000311343	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,missense_variant,p.Tyr378Asp,ENST00000472600,;WDR49,missense_variant,p.Tyr366Asp,ENST00000453925,;WDR49,missense_variant,p.Tyr127Asp,ENST00000476376,;WDR49,missense_variant,p.Tyr302Asp,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;WDR49,upstream_gene_variant,,ENST00000493061,;WDR49,3_prime_UTR_variant,,ENST00000460448,;	1210	101	115	SUCCESS
WDR49	151790	.	GRCh37	3	167293931	167293931	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	50	105	0	ENST00000308378.3:c.261A>T	p.Arg87Ser	p.R87S	ENST00000308378	NM_178824.3	87	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3201.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTCTCAA	NONE	.	.	Prints_domain:PR00320,Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000311343	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0)	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,missense_variant,p.Arg152Ser,ENST00000472600,;WDR49,missense_variant,p.Arg140Ser,ENST00000453925,;WDR49,missense_variant,p.Arg87Ser,ENST00000308378,;WDR49,missense_variant,p.Arg428Ser,ENST00000479765,;WDR49,intron_variant,,ENST00000466760,;WDR49,upstream_gene_variant,,ENST00000476376,;WDR49,3_prime_UTR_variant,,ENST00000460448,;	567	105	109	SUCCESS
NLGN1	22871	.	GRCh37	3	173322666	173322666	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749776633	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	19	161	0	ENST00000457714.1:c.278G>T	p.Arg93Leu	p.R93L	ENST00000457714	NM_014932.3	93	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3222.1	278	RADIA|MUTECT|MUSE|VARSCANS	.	GGAACGTCGTT	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	3/7	.	.	.	.	.	.	.	.	rs749776633,COSM1165253,COSM313242	3/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.109)	.	tolerated(1)	0,1,1	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Arg93Leu,ENST00000361589,;NLGN1,missense_variant,p.Arg93Leu,ENST00000415045,;NLGN1,missense_variant,p.Arg93Leu,ENST00000401917,;NLGN1,missense_variant,p.Arg93Leu,ENST00000457714,;NLGN1,missense_variant,p.Arg93Leu,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000413821,;NLGN1,downstream_gene_variant,,ENST00000423427,;	707	161	143	SUCCESS
NLGN1	22871	.	GRCh37	3	173525610	173525610	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	15	146	0	ENST00000457714.1:c.634C>A	p.Leu212Ile	p.L212I	ENST00000457714	NM_014932.3	212	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3222.1	634	MUTECT|MUSE|VARSCANS	.	ATCGACTTGGA	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	tolerated(0.06)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Leu212Ile,ENST00000361589,;NLGN1,missense_variant,p.Leu252Ile,ENST00000415045,;NLGN1,missense_variant,p.Leu252Ile,ENST00000401917,;NLGN1,missense_variant,p.Leu212Ile,ENST00000457714,;NLGN1,missense_variant,p.Leu212Ile,ENST00000545397,;	1063	147	177	SUCCESS
PIK3CA	5290	.	GRCh37	3	178916692	178916692	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	12	92	0	ENST00000263967.3:c.79C>A	p.Pro27Thr	p.P27T	ENST00000263967	NM_006218.2	27	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS43171.1	79	MUTECT|MUSE	.	TACTACCAAAT	NONE	.	.	PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:3.10.20.90	.	.	ENSP00000263967	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Pro27Thr,ENST00000468036,;PIK3CA,missense_variant,p.Pro27Thr,ENST00000263967,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	236	92	135	SUCCESS
EIF4A2	1974	.	GRCh37	3	186504304	186504304	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	306	24	384	0	ENST00000323963.5:c.641C>T	p.Ser214Phe	p.S214F	ENST00000323963		214	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3282.1	641	MUTECT|MUSE	.	GCTTTCTGCCA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF226,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000326381	.	7/11	.	.	.	.	.	.	.	.	COSM582924	7/11	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,missense_variant,p.Ser214Phe,ENST00000323963,;EIF4A2,missense_variant,p.Ser119Phe,ENST00000356531,;EIF4A2,missense_variant,p.Ser215Phe,ENST00000440191,;RFC4,downstream_gene_variant,,ENST00000296273,;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000441007,;EIF4A2,downstream_gene_variant,,ENST00000498746,;RFC4,downstream_gene_variant,,ENST00000392481,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA81,upstream_gene_variant,,ENST00000408493,;SNORA63,downstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,missense_variant,p.Ser214Phe,ENST00000425053,;EIF4A2,3_prime_UTR_variant,,ENST00000426808,;EIF4A2,3_prime_UTR_variant,,ENST00000443963,;EIF4A2,3_prime_UTR_variant,,ENST00000429589,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475409,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475653,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000468362,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465792,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000492144,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,upstream_gene_variant,,ENST00000497177,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000465267,;EIF4A2,downstream_gene_variant,,ENST00000486805,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,downstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000461021,;RFC4,downstream_gene_variant,,ENST00000494047,;EIF4A2,upstream_gene_variant,,ENST00000494445,;	705	384	330	SUCCESS
MB21D2	151963	.	GRCh37	3	192516472	192516472	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	39	0	ENST00000392452.2:c.1179C>A	p.Val393=	p.V393=	ENST00000392452	NM_178496.3	393	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3302.2	1179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGACTGT	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF43	.	.	ENSP00000376246	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392452	Transcript	.	.	ENSG00000180611	30438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M21D2_HUMAN	MB21D2	HGNC	A8K332_HUMAN	.	UPI000013FAFE	SNV	MB21D2,synonymous_variant,p.%3D,ENST00000392452,;	1500	39	39	SUCCESS
ZDHHC19	131540	.	GRCh37	3	195935366	195935366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	26	159	0	ENST00000296326.3:c.474G>A	p.Met158Ile	p.M158I	ENST00000296326	NM_001039617.1	158	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS43190.1	474	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCATGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50216,hmmpanther:PTHR22883:SF7,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000296326	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000296326	Transcript	.	.	ENSG00000163958	20713	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.14)	.	deleterious(0.03)	.	ZDH19_HUMAN	ZDHHC19	HGNC	B3KVI1_HUMAN	.	UPI00006BFF56	SNV	ZDHHC19,missense_variant,p.Met158Ile,ENST00000296326,;SLC51A,upstream_gene_variant,,ENST00000416660,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000488508,;ZDHHC19,missense_variant,p.Met158Ile,ENST00000438232,;ZDHHC19,missense_variant,p.Met158Ile,ENST00000397544,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000465519,;	554	159	219	SUCCESS
TRIM71	131405	.	GRCh37	3	32915309	32915309	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	12	227	0	ENST00000383763.5:c.853-1G>A		p.X285_splice	ENST00000383763	NM_001039111.1	285		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43060.1	.	MUTECT|MUSE	.	CCCCAGGTGCT	NONE	.	.	.	.	.	ENSP00000373272	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000383763	Transcript	.	.	ENSG00000206557	32669	.	.	HIGH	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIN41_HUMAN	TRIM71	HGNC	.	.	UPI000067CB89	SNV	TRIM71,splice_acceptor_variant,,ENST00000383763,;	.	227	194	SUCCESS
GLB1	2720	.	GRCh37	3	33106973	33106973	+	synonymous_variant	Silent	SNP	C	C	T	rs928862880	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	37	256	0	ENST00000307363.5:c.534G>A	p.Gly178=	p.G178=	ENST00000307363	NM_000404.2	178	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43061.1	534	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCCCTCC	NONE	.	.	Prints_domain:PR00742,Superfamily_domains:SSF51445,PIRSF_domain:PIRSF006336,Pfam_domain:PF01301,Gene3D:3.20.20.80,PROSITE_patterns:PS01182,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF61	.	.	ENSP00000306920	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000307363	Transcript	.	.	ENSG00000170266	4298	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BGAL_HUMAN	GLB1	HGNC	C9JF15_HUMAN,C9J539_HUMAN	.	UPI0000E5A543	SNV	GLB1,missense_variant,p.Ala108Thr,ENST00000307377,;GLB1,synonymous_variant,p.%3D,ENST00000399402,;GLB1,synonymous_variant,p.%3D,ENST00000440656,;GLB1,synonymous_variant,p.%3D,ENST00000307363,;GLB1,synonymous_variant,p.%3D,ENST00000445488,;GLB1,intron_variant,,ENST00000415454,;GLB1,downstream_gene_variant,,ENST00000450835,;GLB1,downstream_gene_variant,,ENST00000436768,;GLB1,non_coding_transcript_exon_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000498537,;GLB1,missense_variant,p.Ala78Thr,ENST00000446732,;GLB1,3_prime_UTR_variant,,ENST00000438227,;	679	256	298	SUCCESS
DLEC1	9940	.	GRCh37	3	38135225	38135225	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774060723	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	17	111	0	ENST00000308059.6:c.1886C>T	p.Thr629Met	p.T629M	ENST00000308059		629	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS2672.2	1886	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGGCTA	NONE	byFrequency	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	12/37	.	.	.	.	.	.	.	.	rs774060723	12/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.388)	.	deleterious(0.04)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Thr629Met,ENST00000308059,;DLEC1,missense_variant,p.Thr629Met,ENST00000346219,;DLEC1,missense_variant,p.Thr629Met,ENST00000452631,;DLEC1,3_prime_UTR_variant,,ENST00000447130,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;	1907	111	165	SUCCESS
TTC21A	199223	.	GRCh37	3	39171742	39171742	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs746350162	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	24	81	0	ENST00000431162.2:c.2233G>T	p.Glu745Ter	p.E745*	ENST00000431162		745	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS46800.1	2233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGAGAAG	NONE	byFrequency	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14699:SF2,hmmpanther:PTHR14699,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000398211	.	17/29	.	.	.	.	.	.	.	.	rs746350162	17/29	PASS	ENST00000431162	Transcript	.	.	ENSG00000168026	30761	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TT21A_HUMAN	TTC21A	HGNC	.	.	UPI00015D46B9	SNV	TTC21A,stop_gained,p.Glu697Ter,ENST00000440121,;TTC21A,stop_gained,p.Glu746Ter,ENST00000301819,;TTC21A,stop_gained,p.Glu745Ter,ENST00000431162,;TTC21A,non_coding_transcript_exon_variant,,ENST00000471025,;TTC21A,upstream_gene_variant,,ENST00000472866,;TTC21A,upstream_gene_variant,,ENST00000493856,;TTC21A,upstream_gene_variant,,ENST00000481734,;TTC21A,downstream_gene_variant,,ENST00000466875,;TTC21A,stop_gained,p.Glu738Ter,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000473587,;	2367	81	122	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	106	185	2	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS2694.1	107	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCATTCTG	SITE|p.H36P|c.107A>C|34,CODON|p.H36Y|c.106C>T|5,CODON|p.H36R|c.107A>G|3,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5678,COSM27378	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.397)	.	deleterious(0.04)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	387	188	339	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	8	153	0	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2694.1	1004	MUTECT|MUSE	.	CGAAAAACTAC	SITE|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	153	125	SUCCESS
CTNNB1	1499	.	GRCh37	3	41275047	41275047	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	5	88	0	ENST00000349496.5:c.1213C>T	p.Leu405Phe	p.L405F	ENST00000349496	NM_001904.3	405	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2694.1	1213	MUTECT|MUSE	.	GGACTCTTGTT	NONE	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Leu405Phe,ENST00000349496,;CTNNB1,missense_variant,p.Leu405Phe,ENST00000396185,;CTNNB1,missense_variant,p.Leu405Phe,ENST00000405570,;CTNNB1,missense_variant,p.Leu398Phe,ENST00000453024,;CTNNB1,missense_variant,p.Leu405Phe,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1493	88	108	SUCCESS
ZNF852	285346	.	GRCh37	3	44541229	44541229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	45	0	ENST00000436261.1:c.1040G>T	p.Ser347Ile	p.S347I	ENST00000436261	NM_001287349.1	347	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	.	1040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCTCTGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF192,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000389841	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000436261	Transcript	.	.	ENSG00000178917	27713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.251)	.	deleterious(0.05)	.	ZN852_HUMAN	ZNF852	HGNC	.	.	UPI000198C97D	SNV	ZNF852,missense_variant,p.Ser347Ile,ENST00000436261,;ZNF852,non_coding_transcript_exon_variant,,ENST00000489411,;ZNF852,non_coding_transcript_exon_variant,,ENST00000463067,;	1201	45	24	SUCCESS
CDCP1	64866	.	GRCh37	3	45153871	45153871	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	52	145	0	ENST00000296129.1:c.359C>G	p.Thr120Ser	p.T120S	ENST00000296129	NM_022842.4	120	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS2727.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGTAGGC	NONE	.	.	hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	.	.	ENSP00000296129	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000296129	Transcript	.	.	ENSG00000163814	24357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.79)	.	CDCP1_HUMAN	CDCP1	HGNC	.	.	UPI000013E304	SNV	CDCP1,missense_variant,p.Thr120Ser,ENST00000425231,;CDCP1,missense_variant,p.Thr120Ser,ENST00000296129,;CDCP1,non_coding_transcript_exon_variant,,ENST00000490471,;	494	145	110	SUCCESS
PTH1R	5745	.	GRCh37	3	46944951	46944951	+	synonymous_variant	Silent	SNP	C	C	T	rs199557895	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	51	0	ENST00000313049.5:c.1587C>T	p.Asn529=	p.N529=	ENST00000313049		529	aaC/aaT	0	T:0.0007	T:0.003	.	T:0	.	T	N	protein_coding	YES	CCDS2747.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACGGCCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12011:SF24,hmmpanther:PTHR12011	T:0	T:0	ENSP00000321999	T:0	14/14	.	.	.	.	.	.	.	.	rs199557895,COSM1744209	14/14	PASS	ENST00000313049	Transcript	.	T:0.0008	ENSG00000160801	9608	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	PTH1R_HUMAN	PTH1R	HGNC	Q71UK6_HUMAN,E7EWE7_HUMAN	.	UPI000005041F	SNV	PTH1R,synonymous_variant,p.%3D,ENST00000430002,;PTH1R,synonymous_variant,p.%3D,ENST00000418619,;PTH1R,synonymous_variant,p.%3D,ENST00000449590,;PTH1R,synonymous_variant,p.%3D,ENST00000313049,;PTH1R,synonymous_variant,p.%3D,ENST00000422115,;PTH1R,downstream_gene_variant,,ENST00000427125,;PTH1R,downstream_gene_variant,,ENST00000490109,;PTH1R,3_prime_UTR_variant,,ENST00000428220,;	1790	51	76	SUCCESS
ITPR1	3708	.	GRCh37	3	4732940	4732940	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	256	21	166	0	ENST00000354582.6:c.3941G>A	p.Arg1314Gln	p.R1314Q	ENST00000354582		1314	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54551.1	3896	MUTECT|MUSE|VARSCANS	.	CGGTCGGAATG	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF01365,Superfamily_domains:SSF48371	.	.	ENSP00000306253	.	31/61	.	.	.	.	.	.	.	.	.	31/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Arg1299Gln,ENST00000443694,;ITPR1,missense_variant,p.Arg1314Gln,ENST00000354582,;ITPR1,missense_variant,p.Arg1305Gln,ENST00000423119,;ITPR1,missense_variant,p.Arg1290Gln,ENST00000456211,;ITPR1,missense_variant,p.Arg1305Gln,ENST00000357086,;ITPR1,missense_variant,p.Arg1299Gln,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	4246	167	278	SUCCESS
TRAIP	10293	.	GRCh37	3	49867199	49867199	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	52	0	ENST00000331456.2:c.1087G>A	p.Glu363Lys	p.E363K	ENST00000331456	NM_005879.2	363	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2806.1	1087	MUTECT|MUSE|VARSCANS	.	GGACTCCTGCA	NONE	.	.	.	.	.	ENSP00000328203	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000331456	Transcript	.	.	ENSG00000183763	30764	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.75)	.	TRAIP_HUMAN	TRAIP	HGNC	A4UCT7_HUMAN	.	UPI000006FE67	SNV	TRAIP,missense_variant,p.Glu208Lys,ENST00000469027,;TRAIP,missense_variant,p.Glu363Lys,ENST00000331456,;TRAIP,splice_region_variant,,ENST00000473195,;TRAIP,non_coding_transcript_exon_variant,,ENST00000491060,;TRAIP,downstream_gene_variant,,ENST00000475495,;	1201	52	89	SUCCESS
NAT6	0	.	GRCh37	3	50334446	50334446	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs587623768	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	30	0	ENST00000354862.4:c.515G>T	p.Arg172Leu	p.R172L	ENST00000354862	NM_012191.3	172	cGt/cTt	0	.	T:0.0008	.	T:0	.	A	R/L	protein_coding	YES	CCDS43095.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACGGCCC	NONE	by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51186,hmmpanther:PTHR13538,hmmpanther:PTHR13538:SF3,Gene3D:3.40.630.30,Pfam_domain:PF00583,Superfamily_domains:SSF55729	T:0	.	ENSP00000346927	T:0	2/2	.	.	.	.	.	.	.	.	rs587623768	2/2	PASS	ENST00000354862	Transcript	.	T:0.0002	ENSG00000243477	30252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	T:0	deleterious(0)	.	NAT6_HUMAN	NAT6	HGNC	Q6IAP1_HUMAN,C9JL88_HUMAN,C9J451_HUMAN	.	UPI00001BD92D	SNV	NAT6,missense_variant,p.Arg150Leu,ENST00000417393,;NAT6,missense_variant,p.Arg150Leu,ENST00000443842,;NAT6,missense_variant,p.Arg150Leu,ENST00000443094,;NAT6,missense_variant,p.Arg172Leu,ENST00000354862,;HYAL3,intron_variant,,ENST00000450982,;HYAL3,intron_variant,,ENST00000336307,;HYAL3,intron_variant,,ENST00000359051,;HYAL3,intron_variant,,ENST00000415204,;HYAL3,intron_variant,,ENST00000513170,;HYAL3,upstream_gene_variant,,ENST00000435141,;IFRD2,upstream_gene_variant,,ENST00000429673,;HYAL1,downstream_gene_variant,,ENST00000395143,;HYAL1,downstream_gene_variant,,ENST00000447605,;NAT6,downstream_gene_variant,,ENST00000442620,;HYAL1,downstream_gene_variant,,ENST00000457214,;IFRD2,upstream_gene_variant,,ENST00000336089,;HYAL1,downstream_gene_variant,,ENST00000320295,;HYAL1,downstream_gene_variant,,ENST00000266031,;NAT6,downstream_gene_variant,,ENST00000450489,;HYAL1,downstream_gene_variant,,ENST00000395144,;IFRD2,upstream_gene_variant,,ENST00000417626,;NAT6,downstream_gene_variant,,ENST00000452674,;IFRD2,upstream_gene_variant,,ENST00000436390,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000489569,;	717	30	25	SUCCESS
STAB1	23166	.	GRCh37	3	52549455	52549455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	69	0	ENST00000321725.6:c.3881G>T	p.Ser1294Ile	p.S1294I	ENST00000321725	NM_015136.2	1294	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS33768.1	3881	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGCTGTG	NONE	.	.	Gene3D:2gy5A03,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	37/69	.	.	.	.	.	.	.	.	.	37/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.288)	.	deleterious(0.03)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ser1294Ile,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;	3957	69	92	SUCCESS
PBRM1	55193	.	GRCh37	3	52588770	52588770	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143564112	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	11	151	0	ENST00000394830.3:c.4258G>T	p.Val1420Leu	p.V1420L	ENST00000394830	NM_018313.4	1420	Gtg/Ttg	0	T:0.0009	T:0.0023	.	T:0	.	A	V/L	protein_coding	YES	CCDS43099.1	4258	MUTECT|MUSE	.	AGGCACACCTG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16062	T:0	T:0	ENSP00000378307	T:0	27/30	.	.	.	.	.	.	.	.	rs143564112,COSM1235550	27/30	PASS	ENST00000394830	Transcript	.	T:0.0006	ENSG00000163939	30064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.009)	T:0	tolerated(0.21)	0,1	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	SNV	PBRM1,missense_variant,p.Val1420Leu,ENST00000394830,;PBRM1,missense_variant,p.Val1472Leu,ENST00000409057,;PBRM1,missense_variant,p.Val1447Leu,ENST00000410007,;PBRM1,missense_variant,p.Val1440Leu,ENST00000356770,;PBRM1,missense_variant,p.Val1527Leu,ENST00000296302,;PBRM1,intron_variant,,ENST00000409767,;SMIM4,intron_variant,,ENST00000476842,;PBRM1,intron_variant,,ENST00000337303,;PBRM1,intron_variant,,ENST00000409114,;PBRM1,downstream_gene_variant,,ENST00000423351,;RNU6-856P,upstream_gene_variant,,ENST00000516959,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	4358	151	231	SUCCESS
PTPRG	5793	.	GRCh37	3	61975392	61975392	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs916309143	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	16	132	0	ENST00000474889.1:c.284T>C	p.Val95Ala	p.V95A	ENST00000474889	NM_002841.3	95	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2895.1	284	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGTTGGGG	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR19134:SF189,hmmpanther:PTHR19134,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000418112	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000474889	Transcript	.	.	ENSG00000144724	9671	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.357)	.	deleterious(0.02)	.	PTPRG_HUMAN	PTPRG	HGNC	O60420_HUMAN	.	UPI00001AEBFB	SNV	PTPRG,missense_variant,p.Val95Ala,ENST00000295874,;PTPRG,missense_variant,p.Val95Ala,ENST00000474889,;	661	132	113	SUCCESS
ROBO2	6092	.	GRCh37	3	77614146	77614146	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	63	0	ENST00000461745.1:c.1724T>C	p.Val575Ala	p.V575A	ENST00000461745	NM_002942.4	575	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS54609.1	1772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTAAAGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0.01)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Val575Ala,ENST00000332191,;ROBO2,missense_variant,p.Val595Ala,ENST00000602589,;ROBO2,missense_variant,p.Val575Ala,ENST00000461745,;ROBO2,missense_variant,p.Val591Ala,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2051	63	62	SUCCESS
ROBO2	6092	.	GRCh37	3	77629195	77629195	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	35	134	0	ENST00000461745.1:c.2426A>C	p.Gln809Pro	p.Q809P	ENST00000461745	NM_002942.4	809	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS54609.1	2474	RADIA|MUTECT|MUSE|VARSCANS	.	TATTCAATACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.418)	.	tolerated(0.31)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Gln809Pro,ENST00000332191,;ROBO2,missense_variant,p.Gln829Pro,ENST00000602589,;ROBO2,missense_variant,p.Gln809Pro,ENST00000461745,;ROBO2,missense_variant,p.Gln825Pro,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2753	134	181	SUCCESS
ROBO2	6092	.	GRCh37	3	77651546	77651546	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751528165	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	239	10	162	0	ENST00000461745.1:c.3040G>A	p.Asp1014Asn	p.D1014N	ENST00000461745	NM_002942.4	1014	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54609.1	3088	MUTECT|MUSE	.	CTGTCGATCTG	SITE|p.D1014N|c.3040G>A|3,SITE|p.D1030N|c.3088G>A|3	byFrequency	.	hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489	.	.	ENSP00000417335	.	21/27	.	.	.	.	.	.	.	.	rs751528165,COSM1048533,COSM1048534	21/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	possibly_damaging(0.555)	.	deleterious(0)	0,1,1	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Asp1034Asn,ENST00000602589,;ROBO2,missense_variant,p.Asp89Asn,ENST00000471893,;ROBO2,missense_variant,p.Asp1030Asn,ENST00000487694,;ROBO2,missense_variant,p.Asp1014Asn,ENST00000332191,;ROBO2,missense_variant,p.Asp1014Asn,ENST00000461745,;ROBO2,missense_variant,p.Asp171Asn,ENST00000490991,;ROBO2,upstream_gene_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	3367	162	249	SUCCESS
CADM2	253559	.	GRCh37	3	85984981	85984981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	326	28	401	0	ENST00000407528.2:c.738G>T	p.Leu246Phe	p.L246F	ENST00000407528	NM_001167674.1	246	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33792.1	744	MUTECT|MUSE	.	ATTTTGACTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,missense_variant,p.Leu246Phe,ENST00000407528,;CADM2,missense_variant,p.Leu255Phe,ENST00000383699,;CADM2,missense_variant,p.Leu248Phe,ENST00000405615,;	744	401	354	SUCCESS
CADM2	253559	.	GRCh37	3	86114753	86114753	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	12	205	0	ENST00000407528.2:c.1064-2A>G		p.X355_splice	ENST00000407528	NM_001167674.1	355		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33792.1	.	MUTECT|MUSE	.	TTTCCAGATCC	NONE	.	.	.	.	.	ENSP00000384193	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	HIGH	8/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,splice_acceptor_variant,,ENST00000407528,;CADM2,splice_acceptor_variant,,ENST00000383699,;CADM2,splice_acceptor_variant,,ENST00000405615,;	.	205	194	SUCCESS
EPHA6	285220	.	GRCh37	3	97202883	97202883	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	10	139	1	ENST00000389672.5:c.2180T>C	p.Ile727Thr	p.I727T	ENST00000389672	NM_001080448.2	727	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS46876.1	2180	MUTECT|MUSE	.	TCGTATTGAGA	BUFFER|p.R118C|c.352C>T|4,BUFFER|p.R726C|c.2176C>T|3,BUFFER|p.R632C|c.1894C>T|4	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000374323	.	10/18	.	.	.	.	.	.	.	.	COSM3598115,COSM3598113,COSM3598114	10/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1,1	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Ile93Thr,ENST00000442602,;EPHA6,missense_variant,p.Ile727Thr,ENST00000389672,;EPHA6,missense_variant,p.Ile119Thr,ENST00000502694,;EPHA6,missense_variant,p.Ile119Thr,ENST00000514100,;EPHA6,missense_variant,p.Ile93Thr,ENST00000477384,;EPHA6,missense_variant,p.Ile93Thr,ENST00000508345,;EPHA6,missense_variant,p.Ile119Thr,ENST00000503760,;RP11-529P9.1,upstream_gene_variant,,ENST00000381974,;	2218	140	158	SUCCESS
BRPF1	7862	.	GRCh37	3	9776191	9776191	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762698085	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	19	101	0	ENST00000457855.1:c.367G>A	p.Glu123Lys	p.E123K	ENST00000457855		123	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33692.1	367	RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGAGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF10513	.	.	ENSP00000373340	.	2/14	.	.	.	.	.	.	.	.	rs762698085	2/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.107)	.	deleterious(0)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Glu123Lys,ENST00000457855,;BRPF1,missense_variant,p.Glu123Lys,ENST00000424362,;BRPF1,missense_variant,p.Glu123Lys,ENST00000433861,;BRPF1,missense_variant,p.Glu123Lys,ENST00000383829,;BRPF1,missense_variant,p.Glu123Lys,ENST00000302054,;BRPF1,downstream_gene_variant,,ENST00000426583,;CPNE9,downstream_gene_variant,,ENST00000383832,;BRPF1,downstream_gene_variant,,ENST00000420291,;	771	101	144	SUCCESS
ADH6	130	.	GRCh37	4	100134799	100134799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	207	0	ENST00000237653.7:c.226G>A	p.Glu76Lys	p.E76K	ENST00000237653	NM_000672.3	76	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43255.1	226	MUTECT|MUSE	.	ACTCTCAACGA	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF307,PROSITE_patterns:PS00059,Pfam_domain:PF08240,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000378359	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000394899	Transcript	.	.	ENSG00000172955	255	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ADH6_HUMAN	ADH6	HGNC	Q9H1A0_HUMAN,B7ZAL1_HUMAN,B4DPD8_HUMAN	.	UPI000013CA1E	SNV	ADH6,missense_variant,p.Glu76Lys,ENST00000237653,;ADH6,missense_variant,p.Glu76Lys,ENST00000394899,;ADH6,missense_variant,p.Glu76Lys,ENST00000508558,;ADH6,missense_variant,p.Glu76Lys,ENST00000394897,;ADH6,intron_variant,,ENST00000407820,;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,intron_variant,,ENST00000506160,;RP11-696N14.1,intron_variant,,ENST00000506454,;ADH6,upstream_gene_variant,,ENST00000504257,;ADH6,downstream_gene_variant,,ENST00000513262,;ADH6,intron_variant,,ENST00000507484,;ADH6,upstream_gene_variant,,ENST00000512708,;	320	207	129	SUCCESS
DKK2	27123	.	GRCh37	4	107845310	107845310	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	14	154	0	ENST00000285311.3:c.581G>A	p.Cys194Tyr	p.C194Y	ENST00000285311	NM_014421.2	194	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS3675.1	581	MUTECT|MUSE	.	CACAGCAAAAC	NONE	.	.	Gene3D:2.10.80.10	.	.	ENSP00000285311	.	4/4	.	.	.	.	.	.	.	.	COSM236087	4/4	PASS	ENST00000285311	Transcript	.	.	ENSG00000155011	2892	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.986)	.	deleterious(0)	1	DKK2_HUMAN	DKK2	HGNC	D6RGF1_HUMAN	.	UPI0000048EF2	SNV	DKK2,missense_variant,p.Cys94Tyr,ENST00000513208,;DKK2,missense_variant,p.Cys194Tyr,ENST00000285311,;DKK2,missense_variant,p.Cys148Tyr,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;	1287	154	174	SUCCESS
HS3ST1	9957	.	GRCh37	4	11400952	11400952	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	31	0	ENST00000002596.5:c.678T>A	p.Pro226=	p.P226=	ENST00000002596	NM_005114.2	226	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3408.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCAGGGAA	NONE	.	.	hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000002596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000002596	Transcript	.	.	ENSG00000002587	5194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,synonymous_variant,p.%3D,ENST00000002596,;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	1853	31	62	SUCCESS
ANK2	287	.	GRCh37	4	114274329	114274329	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200920714	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	69	0	ENST00000357077.4:c.4555G>A	p.Ala1519Thr	p.A1519T	ENST00000357077	NM_001148.4	1519	Gcc/Acc	0	T:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS3702.1	4555	MUTECT|MUSE	likely_benign	TGACCGCCATC	NONE	byCluster	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	T:0.0002	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	rs200920714,COSM201680	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.968)	.	.	0,1	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Ala1486Thr,ENST00000264366,;ANK2,missense_variant,p.Ala1432Thr,ENST00000503423,;ANK2,missense_variant,p.Ala1519Thr,ENST00000357077,;ANK2,missense_variant,p.Ala1534Thr,ENST00000504454,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	4608	69	88	SUCCESS
QRFPR	84109	.	GRCh37	4	122250816	122250816	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751553958	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	10	100	0	ENST00000394427.2:c.949G>A	p.Val317Met	p.V317M	ENST00000394427	NM_198179.2	317	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3719.1	949	MUTECT|MUSE	.	TTGCACGATAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000377948	.	6/6	.	.	.	.	.	.	.	.	rs751553958	6/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,missense_variant,p.Val317Met,ENST00000394427,;QRFPR,3_prime_UTR_variant,,ENST00000334383,;Y_RNA,upstream_gene_variant,,ENST00000384419,;QRFPR,3_prime_UTR_variant,,ENST00000507331,;	1361	100	114	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121309	135121309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	118	1	ENST00000421491.3:c.866G>T	p.Gly289Val	p.G289V	ENST00000421491		289	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	.	1040	MUTECT|MUSE|VARSCANS	.	GGCACCCACGA	NONE	.	.	Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.086)	.	deleterious(0)	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,missense_variant,p.Gly289Val,ENST00000421491,;PABPC4L,missense_variant,p.Gly347Val,ENST00000529122,;	1123	120	103	SUCCESS
PABPC4L	132430	.	GRCh37	4	135122360	135122360	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	75	0	ENST00000421491.3:c.-186G>T		p.*62*	ENST00000421491				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCCCCACAGC	NONE	.	.	.	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,5_prime_UTR_variant,,ENST00000421491,;PABPC4L,5_prime_UTR_variant,,ENST00000529122,;	72	75	69	SUCCESS
SMARCA5	8467	.	GRCh37	4	144467138	144467138	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	253	15	251	0	ENST00000283131.3:c.2458A>G	p.Ile820Val	p.I820V	ENST00000283131	NM_003601.3	820	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3761.1	2458	MUTECT|MUSE	.	TTAAAATTGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF575,hmmpanther:PTHR10799,Pfam_domain:PF09110,Superfamily_domains:0041827	.	.	ENSP00000283131	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000283131	Transcript	1	.	ENSG00000153147	11101	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	tolerated(0.1)	.	SMCA5_HUMAN	SMARCA5	HGNC	Q4W5H1_HUMAN,Q4W5G3_HUMAN	.	UPI000006E693	SNV	SMARCA5,missense_variant,p.Ile820Val,ENST00000283131,;SMARCA5,upstream_gene_variant,,ENST00000508573,;SMARCA5,downstream_gene_variant,,ENST00000515531,;	2920	251	269	SUCCESS
GYPA	2993	.	GRCh37	4	145039884	145039884	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	557	39	558	0	ENST00000360771.4:c.254A>T	p.His85Leu	p.H85L	ENST00000360771	NM_002099.6	85	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS34069.1	254	MUTECT|MUSE	.	AATGATGGGCA	NONE	.	.	hmmpanther:PTHR13813:SF0,hmmpanther:PTHR13813,Gene3D:1.20.5.70,Pfam_domain:PF01102,PIRSF_domain:PIRSF002466	.	.	ENSP00000354003	.	4/7	.	.	.	.	.	.	.	.	COSM1539288	4/7	PASS	ENST00000360771	Transcript	1	.	ENSG00000170180	4702	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.013)	.	deleterious(0.03)	1	GLPA_HUMAN	GYPA	HGNC	Q9UE44_HUMAN,Q14438_HUMAN	.	UPI000016A9B9	SNV	GYPA,missense_variant,p.His20Leu,ENST00000512789,;GYPA,missense_variant,p.His59Leu,ENST00000535709,;GYPA,missense_variant,p.His53Leu,ENST00000504786,;GYPA,missense_variant,p.His85Leu,ENST00000360771,;GYPA,missense_variant,p.His52Leu,ENST00000324022,;GYPB,intron_variant,,ENST00000283126,;GYPA,intron_variant,,ENST00000503627,;GYPA,intron_variant,,ENST00000512064,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPA,3_prime_UTR_variant,,ENST00000508337,;GYPA,non_coding_transcript_exon_variant,,ENST00000509346,;GYPA,upstream_gene_variant,,ENST00000510771,;GYPA,downstream_gene_variant,,ENST00000514603,;	370	558	597	SUCCESS
ZNF827	152485	.	GRCh37	4	146824067	146824067	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	41	0	ENST00000508784.1:c.344C>A	p.Ser115Tyr	p.S115Y	ENST00000508784		115	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34072.1	344	MUTECT|MUSE	.	TGTTGGAGCCT	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.526)	.	tolerated(0.06)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Ser115Tyr,ENST00000508784,;ZNF827,missense_variant,p.Ser115Tyr,ENST00000379448,;ZNF827,intron_variant,,ENST00000513320,;	408	41	63	SUCCESS
ZNF827	152485	.	GRCh37	4	146824068	146824068	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	42	0	ENST00000508784.1:c.343T>A	p.Ser115Thr	p.S115T	ENST00000508784		115	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS34072.1	343	MUTECT|MUSE	.	GTTGGAGCCTG	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.073)	.	tolerated(0.23)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Ser115Thr,ENST00000508784,;ZNF827,missense_variant,p.Ser115Thr,ENST00000379448,;ZNF827,intron_variant,,ENST00000513320,;	407	42	63	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148886196	148886196	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755998386	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	137	376	1	ENST00000336498.3:c.1472G>A	p.Arg491His	p.R491H	ENST00000336498	NM_024605.3	491	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS34075.1	1472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCGTGTTA	NONE	byFrequency	.	PROSITE_profiles:PS50238,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000336923	.	17/23	.	.	.	.	.	.	.	.	rs755998386	17/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Arg169His,ENST00000507661,;ARHGAP10,missense_variant,p.Arg491His,ENST00000336498,;ARHGAP10,missense_variant,p.Arg140His,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	1711	377	311	SUCCESS
NPY2R	4887	.	GRCh37	4	156135578	156135578	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	38	0	ENST00000329476.3:c.487C>G	p.Arg163Gly	p.R163G	ENST00000329476	NM_000910.2	163	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS3791.1	487	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCGAATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	COSM1539619	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.169)	.	tolerated(0.35)	1	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,missense_variant,p.Arg163Gly,ENST00000506608,;NPY2R,missense_variant,p.Arg163Gly,ENST00000329476,;	976	38	64	SUCCESS
GRIA2	2891	.	GRCh37	4	158262498	158262498	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	315	32	508	1	ENST00000264426.9:c.1927G>A	p.Ala643Thr	p.A643T	ENST00000264426	NM_001083619.1	643	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3797.1	1927	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGCCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF81324,Prints_domain:PR00177	.	.	ENSP00000296526	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ala643Thr,ENST00000264426,;GRIA2,missense_variant,p.Ala596Thr,ENST00000507898,;GRIA2,missense_variant,p.Ala596Thr,ENST00000393815,;GRIA2,missense_variant,p.Ala643Thr,ENST00000296526,;GRIA2,missense_variant,p.Ala596Thr,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,missense_variant,p.Ala596Thr,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	2252	509	348	SUCCESS
GRIA2	2891	.	GRCh37	4	158262499	158262499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	304	29	490	0	ENST00000264426.9:c.1928C>A	p.Ala643Asp	p.A643D	ENST00000264426	NM_001083619.1	643	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS3797.1	1928	MUTECT|MUSE|VARSCANS	.	AGCTGCCTTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF81324,Prints_domain:PR00177	.	.	ENSP00000296526	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ala643Asp,ENST00000264426,;GRIA2,missense_variant,p.Ala596Asp,ENST00000507898,;GRIA2,missense_variant,p.Ala596Asp,ENST00000393815,;GRIA2,missense_variant,p.Ala643Asp,ENST00000296526,;GRIA2,missense_variant,p.Ala596Asp,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,missense_variant,p.Ala596Asp,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	2253	490	333	SUCCESS
CD38	952	.	GRCh37	4	15839760	15839760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	68	0	ENST00000226279.3:c.631T>C	p.Ser211Pro	p.S211P	ENST00000226279	NM_001775.2	211	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3417.1	631	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATCCCGC	NONE	.	.	hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF5,Gene3D:3.40.50.720,Pfam_domain:PF02267,Superfamily_domains:SSF52309	.	.	ENSP00000226279	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000226279	Transcript	.	.	ENSG00000004468	1667	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD38_HUMAN	CD38	HGNC	Q4FCX6_HUMAN,B4DMR7_HUMAN	.	UPI00000739C2	SNV	CD38,missense_variant,p.Ser99Pro,ENST00000510674,;CD38,missense_variant,p.Ser211Pro,ENST00000226279,;CD38,3_prime_UTR_variant,,ENST00000502843,;	768	68	78	SUCCESS
FNIP2	57600	.	GRCh37	4	159790073	159790073	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1414145142	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	6	44	0	ENST00000264433.6:c.2285A>T	p.Gln762Leu	p.Q762L	ENST00000264433	NM_020840.1	762	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47155.1	2285	MUTECT|MUSE	.	CCCGCAGGTTT	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11	.	.	ENSP00000264433	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000264433	Transcript	.	.	ENSG00000052795	29280	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.287)	.	tolerated(0.07)	.	FNIP2_HUMAN	FNIP2	HGNC	.	.	UPI00001C1E0A	SNV	FNIP2,missense_variant,p.Gln785Leu,ENST00000379346,;FNIP2,missense_variant,p.Gln762Leu,ENST00000264433,;FNIP2,downstream_gene_variant,,ENST00000512986,;FNIP2,upstream_gene_variant,,ENST00000505130,;	2360	44	99	SUCCESS
NPY5R	4889	.	GRCh37	4	164272591	164272591	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1341557653	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	13	191	0	ENST00000338566.3:c.1166T>A	p.Val389Glu	p.V389E	ENST00000338566	NM_006174.2	389	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS3804.1	1166	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTGGTAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01016	.	.	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,missense_variant,p.Val389Glu,ENST00000506953,;NPY5R,missense_variant,p.Val389Glu,ENST00000515560,;NPY5R,missense_variant,p.Val389Glu,ENST00000338566,;	2688	192	130	SUCCESS
WHSC1	0	.	GRCh37	4	1957858	1957858	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	12	85	0	ENST00000382895.3:c.2824G>T	p.Gly942Trp	p.G942W	ENST00000382895	NM_133330.2	942	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS33940.1	2824	MUTECT|MUSE	.	TGGAGGGGGAC	NONE	.	.	PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Pfam_domain:PF00855,Gene3D:2.30.30.160,Superfamily_domains:SSF63748	.	.	ENSP00000372351	.	17/24	.	.	.	.	.	.	.	.	COSM3917612,COSM3917613	17/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,missense_variant,p.Gly942Trp,ENST00000508803,;WHSC1,missense_variant,p.Gly290Trp,ENST00000382888,;WHSC1,missense_variant,p.Gly942Trp,ENST00000382892,;WHSC1,missense_variant,p.Gly942Trp,ENST00000382895,;WHSC1,missense_variant,p.Gly942Trp,ENST00000382891,;WHSC1,missense_variant,p.Gly266Trp,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000503207,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000513726,;WHSC1,downstream_gene_variant,,ENST00000502425,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,non_coding_transcript_exon_variant,,ENST00000507094,;WHSC1,downstream_gene_variant,,ENST00000511904,;AL132868.1,downstream_gene_variant,,ENST00000327785,;	3255	85	162	SUCCESS
FAM193A	8603	.	GRCh37	4	2717767	2717767	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	67	354	0	ENST00000324666.5:c.3640A>G	p.Lys1214Glu	p.K1214E	ENST00000324666	NM_001256666.1	1214	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS58875.1	3640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTAAAGAT	NONE	.	.	hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109	.	.	ENSP00000324587	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000324666	Transcript	.	.	ENSG00000125386	16822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	F193A_HUMAN	FAM193A	HGNC	E7EUR8_HUMAN,D6R990_HUMAN	.	UPI0000551BCA	SNV	FAM193A,missense_variant,p.Lys1173Glu,ENST00000545951,;FAM193A,missense_variant,p.Lys1195Glu,ENST00000502458,;FAM193A,missense_variant,p.Lys1214Glu,ENST00000324666,;FAM193A,missense_variant,p.Lys1173Glu,ENST00000382839,;FAM193A,missense_variant,p.Lys1173Glu,ENST00000505311,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;	3991	354	170	SUCCESS
PCDH7	5099	.	GRCh37	4	30724910	30724910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	68	0	ENST00000361762.2:c.1866C>A	p.Ser622Arg	p.S622R	ENST00000361762	NM_002589.2	622	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS54753.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCACTAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	deleterious(0.01)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Ser312Arg,ENST00000511884,;PCDH7,missense_variant,p.Ser622Arg,ENST00000543491,;PCDH7,missense_variant,p.Ser622Arg,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	1866	68	93	SUCCESS
KIAA1239	0	.	GRCh37	4	37447730	37447730	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	8	50	0	ENST00000309447.5:c.4120A>G	p.Thr1374Ala	p.T1374A	ENST00000309447	NM_001144990.1	1374	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47040.1	4120	MUTECT|VARSCANS	.	TGGTGACATCA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF82171	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.14)	.	tolerated(0.15)	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,missense_variant,p.Thr1374Ala,ENST00000309447,;	4968	50	92	SUCCESS
KIAA1239	0	.	GRCh37	4	37447823	37447823	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	47	0	ENST00000309447.5:c.4213A>C	p.Ile1405Leu	p.I1405L	ENST00000309447	NM_001144990.1	1405	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS47040.1	4213	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGATTACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF82171	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	deleterious(0.05)	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,missense_variant,p.Ile1405Leu,ENST00000309447,;	5061	47	87	SUCCESS
RFC1	5981	.	GRCh37	4	39310299	39310299	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	286	28	444	0	ENST00000381897.1:c.1842G>T	p.Trp614Cys	p.W614C	ENST00000381897	NM_002913.4	614	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS56329.1	1842	MUTECT|MUSE|VARSCANS	.	CGGAGCCAGCG	NONE	.	.	hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,Gene3D:3.40.50.300,PIRSF_domain:PIRSF036578,Superfamily_domains:SSF52540	.	.	ENSP00000371321	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000381897	Transcript	.	.	ENSG00000035928	9969	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RFC1_HUMAN	RFC1	HGNC	.	.	UPI0000167BB4	SNV	RFC1,missense_variant,p.Trp614Cys,ENST00000381897,;RFC1,missense_variant,p.Trp614Cys,ENST00000349703,;RFC1,intron_variant,,ENST00000504554,;RFC1,non_coding_transcript_exon_variant,,ENST00000502706,;RFC1,downstream_gene_variant,,ENST00000509084,;	1976	445	314	SUCCESS
KCTD8	386617	.	GRCh37	4	44177219	44177219	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	11	126	0	ENST00000360029.3:c.1010A>G	p.Lys337Arg	p.K337R	ENST00000360029	NM_198353.2	337	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3467.1	1010	MUTECT|MUSE	.	CATGTTTCCTA	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	tolerated(0.18)	.	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,missense_variant,p.Lys73Arg,ENST00000515268,;KCTD8,missense_variant,p.Lys337Arg,ENST00000360029,;	1294	126	168	SUCCESS
GABRG1	2565	.	GRCh37	4	46053503	46053503	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	185	1	ENST00000295452.4:c.1069T>A	p.Phe357Ile	p.F357I	ENST00000295452	NM_173536.3	357	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS3470.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAAAATAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR01620	.	.	ENSP00000295452	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Phe357Ile,ENST00000295452,;	1237	186	71	SUCCESS
GABRA2	2555	.	GRCh37	4	46390683	46390684	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	470	45	407	0	ENST00000356504.1:c.40_41delinsA	p.Leu14IlefsTer61	p.L14Ifs*61	ENST00000356504	NM_001114175.1	14	CTt/At	0	.	.	.	.	.	T	L/X	protein_coding	YES	CCDS3471.1	40-41	INDELOCATOR*|PINDEL|VARSCANS*	.	ACAAAAAGCAGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945:SF218,hmmpanther:PTHR18945,Prints_domain:PR01615	.	.	ENSP00000421828	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	substitution	GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000503806,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000510861,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000515082,;GABRA2,frameshift_variant,p.Leu14IlefsTer59,ENST00000507460,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000506961,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000356504,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000507069,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000381620,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000514090,;GABRA2,5_prime_UTR_variant,,ENST00000540012,;RP11-436F23.1,upstream_gene_variant,,ENST00000502455,;GABRA2,non_coding_transcript_exon_variant,,ENST00000509716,;GABRA2,frameshift_variant,p.Leu14IlefsTer?,ENST00000514193,;GABRA2,frameshift_variant,p.Leu14IlefsTer151,ENST00000513005,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000510233,;	214-215	407	515	SUCCESS
GABRA4	2557	.	GRCh37	4	46930408	46930408	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	17	198	0	ENST00000264318.3:c.1499C>A	p.Ser500Ter	p.S500*	ENST00000264318	NM_000809.3	500	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS3473.1	1499	MUTECT|MUSE	.	TAGCTGACAAC	NONE	.	.	Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	.	.	ENSP00000264318	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000264318	Transcript	.	.	ENSG00000109158	4078	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRA4_HUMAN	GABRA4	HGNC	.	.	UPI0000074200	SNV	GABRA4,stop_gained,p.Ser500Ter,ENST00000264318,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000508560,;	2482	198	214	SUCCESS
EXOC1	55763	.	GRCh37	4	56750089	56750089	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	339	39	416	0	ENST00000346134.7:c.1325A>C	p.Lys442Thr	p.K442T	ENST00000346134	NM_018261.3	442	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS3502.1	1325	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAAGTTTG	NONE	.	.	hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19,Pfam_domain:PF09763	.	.	ENSP00000370695	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000381295	Transcript	.	.	ENSG00000090989	30380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated(0.45)	.	EXOC1_HUMAN	EXOC1	HGNC	.	.	UPI000013574F	SNV	EXOC1,missense_variant,p.Lys442Thr,ENST00000381295,;EXOC1,missense_variant,p.Lys442Thr,ENST00000349598,;EXOC1,missense_variant,p.Lys442Thr,ENST00000346134,;RNU6-652P,upstream_gene_variant,,ENST00000365488,;EXOC1,non_coding_transcript_exon_variant,,ENST00000509302,;EXOC1,non_coding_transcript_exon_variant,,ENST00000511971,;EXOC1,upstream_gene_variant,,ENST00000504321,;	1673	416	378	SUCCESS
CEP135	9662	.	GRCh37	4	56846403	56846403	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	352	22	354	0	ENST00000257287.4:c.1568A>T	p.Gln523Leu	p.Q523L	ENST00000257287	NM_025009.4	523	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33986.1	1568	MUTECT|MUSE	.	TATACAGTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10	.	.	ENSP00000257287	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000257287	Transcript	1	.	ENSG00000174799	29086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CP135_HUMAN	CEP135	HGNC	.	.	UPI00003CE420	SNV	CEP135,missense_variant,p.Gln523Leu,ENST00000257287,;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	1692	354	374	SUCCESS
POLR2B	5431	.	GRCh37	4	57860856	57860856	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	11	108	0	ENST00000314595.5:c.400A>G	p.Lys134Glu	p.K134E	ENST00000314595	NM_000938.1	134	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3511.1	400	MUTECT|VARSCANS	.	TCATTAAAGAA	NONE	.	.	Superfamily_domains:SSF64484,Pfam_domain:PF04563,Gene3D:2a6hC02,hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856	.	.	ENSP00000370625	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000381227	Transcript	.	.	ENSG00000047315	9188	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.52)	.	RPB2_HUMAN	POLR2B	HGNC	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN	.	UPI00001345D1	SNV	POLR2B,missense_variant,p.Lys127Glu,ENST00000441246,;POLR2B,missense_variant,p.Lys59Glu,ENST00000431623,;POLR2B,missense_variant,p.Lys134Glu,ENST00000381227,;POLR2B,missense_variant,p.Lys134Glu,ENST00000314595,;POLR2B,downstream_gene_variant,,ENST00000433463,;POLR2B,downstream_gene_variant,,ENST00000450656,;snoU13,downstream_gene_variant,,ENST00000459266,;	813	108	126	SUCCESS
LPHN3	0	.	GRCh37	4	62849309	62849309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	21	226	0	ENST00000514591.1:c.3020G>T	p.Gly1007Val	p.G1007V	ENST00000514591		1007	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54768.1	3020	MUTECT|MUSE|VARSCANS	.	TTATGGAACAG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000422533	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Gly1075Val,ENST00000507625,;LPHN3,missense_variant,p.Gly1007Val,ENST00000508946,;LPHN3,missense_variant,p.Gly1007Val,ENST00000506700,;LPHN3,missense_variant,p.Gly465Val,ENST00000502815,;LPHN3,missense_variant,p.Gly1075Val,ENST00000509896,;LPHN3,missense_variant,p.Gly1075Val,ENST00000511324,;LPHN3,missense_variant,p.Gly1007Val,ENST00000545650,;LPHN3,missense_variant,p.Gly1075Val,ENST00000506720,;LPHN3,missense_variant,p.Gly1007Val,ENST00000504896,;LPHN3,missense_variant,p.Gly1007Val,ENST00000514591,;LPHN3,missense_variant,p.Gly1075Val,ENST00000508693,;LPHN3,missense_variant,p.Gly1075Val,ENST00000506746,;LPHN3,missense_variant,p.Gly1007Val,ENST00000514996,;LPHN3,missense_variant,p.Gly1007Val,ENST00000512091,;LPHN3,missense_variant,p.Gly1007Val,ENST00000514157,;LPHN3,missense_variant,p.Gly1075Val,ENST00000507164,;	3349	226	233	SUCCESS
TECRL	253017	.	GRCh37	4	65240898	65240898	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	58	223	0	ENST00000381210.3:c.278A>G	p.His93Arg	p.H93R	ENST00000381210	NM_001010874.4	93	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS33990.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTGAAAC	NONE	.	.	hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27	.	.	ENSP00000370607	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000381210	Transcript	.	.	ENSG00000205678	27365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	deleterious(0.04)	.	TECRL_HUMAN	TECRL	HGNC	D6RBZ3_HUMAN	.	UPI0000141A54	SNV	TECRL,missense_variant,p.His93Arg,ENST00000381210,;TECRL,missense_variant,p.His93Arg,ENST00000509536,;TECRL,missense_variant,p.His93Arg,ENST00000507440,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;	389	223	183	SUCCESS
EPHA5	2044	.	GRCh37	4	66218783	66218783	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773082683	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	87	159	0	ENST00000273854.3:c.2275G>A	p.Gly759Ser	p.G759S	ENST00000273854	NM_004439.5	759	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3513.1	2275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCATTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000273854	.	13/18	.	.	.	.	.	.	.	.	rs773082683	13/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,missense_variant,p.Gly759Ser,ENST00000273854,;EPHA5,missense_variant,p.Gly760Ser,ENST00000511294,;EPHA5,missense_variant,p.Gly596Ser,ENST00000432638,;EPHA5,missense_variant,p.Gly737Ser,ENST00000354839,;	2876	159	188	SUCCESS
UGT2B10	7365	.	GRCh37	4	69682095	69682095	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	328	20	468	1	ENST00000265403.7:c.358G>C	p.Asp120His	p.D120H	ENST00000265403	NM_001075.4	120	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	.	358	MUTECT|MUSE	.	TTAATGACATA	NONE	.	.	hmmpanther:PTHR11926:SF124,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000265403	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000265403	Transcript	.	.	ENSG00000109181	12544	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.349)	.	deleterious(0.02)	.	UDB10_HUMAN	UGT2B10	HGNC	.	.	UPI0000137A96	SNV	UGT2B10,missense_variant,p.Asp120His,ENST00000265403,;UGT2B10,missense_variant,p.Asp120His,ENST00000458688,;RP11-468N14.1,downstream_gene_variant,,ENST00000507455,;	385	469	348	SUCCESS
UGT2A2	574537	.	GRCh37	4	70455333	70455333	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755526328	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	251	27	216	1	ENST00000457664.2:c.1368C>A	p.His456Gln	p.H456Q	ENST00000457664	NM_001105677.2	456	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS58902.1	1839	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGTGAAT	BUFFER|p.R445I|c.1334G>T|3	.	.	hmmpanther:PTHR11926:SF116,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000425497	.	7/7	.	.	.	.	.	.	.	.	rs755526328	7/7	PASS	ENST00000514019	Transcript	.	.	ENSG00000270386	12542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.072)	.	tolerated(0.16)	.	UD2A1_HUMAN	UGT2A1	HGNC	D6RHF3_HUMAN	.	UPI0001AE74CB	SNV	UGT2A1,missense_variant,p.His447Gln,ENST00000286604,;UGT2A1,missense_variant,p.His613Gln,ENST00000514019,;UGT2A1,missense_variant,p.His447Gln,ENST00000503640,;UGT2A2,missense_variant,p.His413Gln,ENST00000604021,;UGT2A2,missense_variant,p.His456Gln,ENST00000457664,;UGT2A1,missense_variant,p.His403Gln,ENST00000512704,;UGT2A2,missense_variant,p.His457Gln,ENST00000604629,;UGT2A1,non_coding_transcript_exon_variant,,ENST00000502343,;RP11-401E5.2,upstream_gene_variant,,ENST00000506662,;	1955	217	278	SUCCESS
C4orf40	0	.	GRCh37	4	71024516	71024516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	15	183	0	ENST00000344526.5:c.547C>A	p.Pro183Thr	p.P183T	ENST00000344526	NM_214711.3	183	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3535.1	547	MUTECT|MUSE	.	AGGCACCTGTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000343172	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000344526	Transcript	.	.	ENSG00000187533	33193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	CD040_HUMAN	C4orf40	HGNC	.	.	UPI0000036170	SNV	C4orf40,missense_variant,p.Pro183Thr,ENST00000344526,;C4orf40,missense_variant,p.Pro183Thr,ENST00000502294,;C4orf40,downstream_gene_variant,,ENST00000502441,;C4orf40,missense_variant,p.Pro25Thr,ENST00000512173,;C4orf40,3_prime_UTR_variant,,ENST00000509633,;	736	183	224	SUCCESS
MUC7	4589	.	GRCh37	4	71346814	71346814	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	11	178	0	ENST00000304887.5:c.353C>T	p.Ser118Leu	p.S118L	ENST00000304887	NM_152291.2	118	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3541.1	353	MUTECT|MUSE	.	CCCATCAGCTT	BUFFER|p.S120Y|c.359C>A|3	.	.	.	.	.	ENSP00000407422	.	4/4	.	.	.	.	.	.	.	.	COSM3373547	4/4	PASS	ENST00000413702	Transcript	1	.	ENSG00000171195	7518	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.895)	.	deleterious(0.01)	1	MUC7_HUMAN	MUC7	HGNC	D6RHX1_HUMAN	.	UPI000013E9DD	SNV	MUC7,missense_variant,p.Ser118Leu,ENST00000413702,;MUC7,missense_variant,p.Ser118Leu,ENST00000505411,;MUC7,missense_variant,p.Ser118Leu,ENST00000456088,;MUC7,missense_variant,p.Ser118Leu,ENST00000304887,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;	641	178	201	SUCCESS
ALB	213	.	GRCh37	4	74274521	74274524	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	AAGT	AAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	85	0	ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	481-?	INDELOCATOR|VARSCANI	.	TTGAAAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	6	.	HIGH	4/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	570-?	85	81	SUCCESS
ALB	213	.	GRCh37	4	74283297	74283298	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	212	32	165	0	ENST00000295897.4:c.1341dup	p.Val448CysfsTer16	p.V448Cfs*16	ENST00000295897	NM_000477.5	447	ctt/cTtt	0	.	.	.	.	.	T	L/LX	protein_coding	YES	CCDS3555.1	1339-1340	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACTCTTGTA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.Val448CysfsTer16,ENST00000509063,;ALB,frameshift_variant,p.Val293CysfsTer16,ENST00000511370,;ALB,frameshift_variant,p.Val256CysfsTer16,ENST00000415165,;ALB,frameshift_variant,p.Val448CysfsTer16,ENST00000295897,;ALB,frameshift_variant,p.Val298CysfsTer16,ENST00000503124,;ALB,frameshift_variant,p.Val333CysfsTer16,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000504043,;	1428-1429	165	244	SUCCESS
SDAD1	55153	.	GRCh37	4	76912095	76912095	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs138471416	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	37	0	ENST00000356260.5:c.-101C>A		p.*34*	ENST00000356260	NM_018115.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3573.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCGGGTATGA	NONE	byFrequency|byCluster|by1000G	.	.	.	.	ENSP00000348596	.	1/22	.	.	.	.	.	.	.	.	rs138471416	1/22	PASS	ENST00000356260	Transcript	.	T:0.0030	ENSG00000198301	25537	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SDA1_HUMAN	SDAD1	HGNC	.	.	UPI000020B02A	SNV	SDAD1,5_prime_UTR_variant,,ENST00000356260,;SDAD1,upstream_gene_variant,,ENST00000395711,;RP11-630D6.5,intron_variant,,ENST00000501239,;SDAD1,non_coding_transcript_exon_variant,,ENST00000504975,;SDAD1,5_prime_UTR_variant,,ENST00000514710,;SDAD1,upstream_gene_variant,,ENST00000503411,;SDAD1,upstream_gene_variant,,ENST00000395710,;	19	37	35	SUCCESS
FAM47E-STBD1	100631383	.	GRCh37	4	77230589	77230589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	13	119	0	ENST00000237642.6:c.513G>T	p.Glu171Asp	p.E171D	ENST00000237642	NM_003943.4	171	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3578.1	513	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAAGTT	NONE	.	.	hmmpanther:PTHR15048,hmmpanther:PTHR15048:SF0	.	.	ENSP00000237642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000237642	Transcript	.	.	ENSG00000118804	44667	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.055)	.	tolerated(0.13)	.	STBD1_HUMAN	FAM47E-STBD1	HGNC	B3KMK8_HUMAN	.	UPI000006DB9D	SNV	FAM47E-STBD1,missense_variant,p.Glu22Asp,ENST00000539752,;FAM47E-STBD1,missense_variant,p.Glu171Asp,ENST00000237642,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514140,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000515604,;CCDC158,downstream_gene_variant,,ENST00000388914,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514365,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;CCDC158,downstream_gene_variant,,ENST00000504667,;	1257	119	127	SUCCESS
ANXA3	306	.	GRCh37	4	79503384	79503384	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	13	151	0	ENST00000264908.6:c.252G>A	p.Met84Ile	p.M84I	ENST00000264908	NM_005139.2	84	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3584.1	252	MUTECT|MUSE	.	CTCATGGTGGC	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196,Prints_domain:PR00199	.	.	ENSP00000264908	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(1)	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,missense_variant,p.Met84Ile,ENST00000514171,;ANXA3,missense_variant,p.Met45Ile,ENST00000503570,;ANXA3,missense_variant,p.Met45Ile,ENST00000512884,;ANXA3,missense_variant,p.Met84Ile,ENST00000264908,;ANXA3,missense_variant,p.Met84Ile,ENST00000512373,;ANXA3,missense_variant,p.Met84Ile,ENST00000508214,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;	631	151	193	SUCCESS
FGF5	2250	.	GRCh37	4	81207740	81207740	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	109	0	ENST00000312465.7:c.721A>C	p.Ser241Arg	p.S241R	ENST00000312465	NM_004464.3	241	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS34021.1	721	MUTECT|MUSE|VARSCANS	.	CACCTAGCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF23	.	.	ENSP00000311697	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312465	Transcript	1	.	ENSG00000138675	3683	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.52)	.	FGF5_HUMAN	FGF5	HGNC	Q8NF90_HUMAN,Q8NBG6_HUMAN	.	UPI0000039721	SNV	FGF5,missense_variant,p.Ser241Arg,ENST00000312465,;FGF5,3_prime_UTR_variant,,ENST00000456523,;FGF5,non_coding_transcript_exon_variant,,ENST00000503413,;FGF5,intron_variant,,ENST00000507780,;	947	109	101	SUCCESS
GPRIN3	285513	.	GRCh37	4	90170546	90170546	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	76	0	ENST00000333209.4:c.716C>T	p.Thr239Ile	p.T239I	ENST00000333209		239	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34030.1	716	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTAGTTAGA	NONE	.	.	hmmpanther:PTHR15718:SF2,hmmpanther:PTHR15718	.	.	ENSP00000476603	.	2/2	.	.	.	.	.	.	.	.	COSM481680	2/2	PASS	ENST00000609438	Transcript	.	.	ENSG00000185477	27733	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.044)	.	tolerated(0.06)	1	.	GPRIN3	HGNC	.	.	UPI00001C1E20	SNV	GPRIN3,missense_variant,p.Thr239Ile,ENST00000609438,;GPRIN3,missense_variant,p.Thr239Ile,ENST00000333209,;	1235	76	81	SUCCESS
CTNND2	1501	.	GRCh37	5	11082847	11082847	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	90	0	ENST00000304623.8:c.2749C>T	p.Arg917Trp	p.R917W	ENST00000304623	NM_001332.2	917	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3881.1	2749	MUTECT|MUSE	.	GTTCCGCAGCG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,PROSITE_profiles:PS50176	.	.	ENSP00000307134	.	16/22	.	.	.	.	.	.	.	.	COSM339179	16/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Arg917Trp,ENST00000304623,;CTNND2,missense_variant,p.Arg859Trp,ENST00000359640,;CTNND2,missense_variant,p.Arg580Trp,ENST00000503622,;CTNND2,missense_variant,p.Arg826Trp,ENST00000511377,;CTNND2,missense_variant,p.Arg484Trp,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Arg696Trp,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2939	90	100	SUCCESS
REEP5	7905	.	GRCh37	5	112238112	112238112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	15	90	0	ENST00000379638.4:c.316T>C	p.Phe106Leu	p.F106L	ENST00000379638	NM_005669.4	106	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS4109.2	316	MUTECT|MUSE|VARSCANS	.	CAGGAAGATAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF41,Pfam_domain:PF03134	.	.	ENSP00000368959	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000379638	Transcript	.	.	ENSG00000129625	30077	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.524)	.	tolerated(0.68)	.	REEP5_HUMAN	REEP5	HGNC	.	.	UPI00001B24A5	SNV	REEP5,missense_variant,p.Phe106Leu,ENST00000545426,;REEP5,missense_variant,p.Phe97Leu,ENST00000261482,;REEP5,missense_variant,p.Phe106Leu,ENST00000379638,;REEP5,missense_variant,p.Phe106Leu,ENST00000513339,;REEP5,intron_variant,,ENST00000504247,;AC008536.1,downstream_gene_variant,,ENST00000579867,;CTC-487M23.7,downstream_gene_variant,,ENST00000607284,;REEP5,non_coding_transcript_exon_variant,,ENST00000474542,;REEP5,missense_variant,p.Phe120Leu,ENST00000511865,;REEP5,non_coding_transcript_exon_variant,,ENST00000497856,;	665	90	178	SUCCESS
FEM1C	56929	.	GRCh37	5	114861063	114861063	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	254	11	181	0	ENST00000274457.3:c.796T>G	p.Leu266Val	p.L266V	ENST00000274457	NM_020177.2	266	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4118.1	796	MUTECT|MUSE	.	TTTCAAAGCCC	NONE	.	.	hmmpanther:PTHR24173:SF14,hmmpanther:PTHR24173,Gene3D:1.25.40.10	.	.	ENSP00000274457	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000274457	Transcript	.	.	ENSG00000145780	16933	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.08)	.	deleterious(0.04)	.	FEM1C_HUMAN	FEM1C	HGNC	.	.	UPI0000046A79	SNV	FEM1C,missense_variant,p.Leu266Val,ENST00000274457,;	1358	181	265	SUCCESS
DMXL1	1657	.	GRCh37	5	118485268	118485268	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	75	0	ENST00000311085.8:c.3746C>T	p.Pro1249Leu	p.P1249L	ENST00000311085	NM_005509.4	1249	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4125.1	3746	MUTECT|MUSE|VARSCANS	.	AGAACCTGTTA	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.4)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Pro1249Leu,ENST00000539542,;DMXL1,missense_variant,p.Pro1249Leu,ENST00000311085,;DMXL1,downstream_gene_variant,,ENST00000512281,;	3826	75	103	SUCCESS
PRR16	51334	.	GRCh37	5	120021691	120021691	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	61	0	ENST00000407149.2:c.202G>C	p.Glu68Gln	p.E68Q	ENST00000407149		68	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4127.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAGGAT	NONE	.	.	hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,missense_variant,p.Glu68Gln,ENST00000407149,;PRR16,missense_variant,p.Glu45Gln,ENST00000379551,;PRR16,5_prime_UTR_variant,,ENST00000446965,;PRR16,5_prime_UTR_variant,,ENST00000505123,;PRR16,5_prime_UTR_variant,,ENST00000509923,;	490	61	35	SUCCESS
FSTL4	23105	.	GRCh37	5	132534838	132534838	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	8	69	0	ENST00000265342.7:c.2478G>C	p.Glu826Asp	p.E826D	ENST00000265342	NM_015082.1	826	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS34238.1	2478	MUTECT|MUSE	.	GACACCTCACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF9	.	.	ENSP00000265342	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000265342	Transcript	.	.	ENSG00000053108	21389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	FSTL4_HUMAN	FSTL4	HGNC	.	.	UPI000003AFB0	SNV	FSTL4,missense_variant,p.Glu826Asp,ENST00000265342,;CTB-49A3.2,intron_variant,,ENST00000509051,;FSTL4,downstream_gene_variant,,ENST00000511375,;FSTL4,non_coding_transcript_exon_variant,,ENST00000509525,;	2728	69	108	SUCCESS
FAM53C	51307	.	GRCh37	5	137681062	137681062	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769884886	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	38	0	ENST00000239906.5:c.685C>T	p.Arg229Cys	p.R229C	ENST00000239906	NM_016605.2	229	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS4204.1	685	MUTECT|MUSE	.	CTCAGCGCCGC	NONE	byFrequency	.	Pfam_domain:PF15242	.	.	ENSP00000239906	.	4/5	.	.	.	.	.	.	.	.	rs769884886	4/5	PASS	ENST00000239906	Transcript	.	.	ENSG00000120709	1336	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	FA53C_HUMAN	FAM53C	HGNC	.	.	UPI000006DF45	SNV	FAM53C,missense_variant,p.Arg229Cys,ENST00000434981,;FAM53C,missense_variant,p.Arg229Cys,ENST00000239906,;FAM53C,intron_variant,,ENST00000513056,;FAM53C,downstream_gene_variant,,ENST00000511276,;RP11-256P1.1,downstream_gene_variant,,ENST00000504539,;FAM53C,non_coding_transcript_exon_variant,,ENST00000507506,;FAM53C,downstream_gene_variant,,ENST00000505136,;FAM53C,downstream_gene_variant,,ENST00000512180,;FAM53C,downstream_gene_variant,,ENST00000505768,;FAM53C,downstream_gene_variant,,ENST00000511024,;	1113	38	66	SUCCESS
DNAH5	1767	.	GRCh37	5	13770967	13770967	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	16	120	0	ENST00000265104.4:c.9496A>G	p.Arg3166Gly	p.R3166G	ENST00000265104	NM_001369.2	3166	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS3882.1	9496	MUTECT|MUSE	.	GAATCTCTGAA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	56/79	.	.	.	.	.	.	.	.	.	56/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.415)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Arg3166Gly,ENST00000265104,;DNAH5,non_coding_transcript_exon_variant,,ENST00000504001,;	9601	120	213	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140347607	140347607	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782399233	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	49	0	ENST00000289269.5:c.1256A>G	p.Tyr419Cys	p.Y419C	ENST00000289269	NM_018899.5	419	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4242.1	1256	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATACAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,PROSITE_profiles:PS50268	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	rs782399233	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,missense_variant,p.Tyr419Cys,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1788	49	70	SUCCESS
PCDHGC5	56097	.	GRCh37	5	140871119	140871119	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769927075	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	81	0	ENST00000252087.1:c.2312G>A	p.Ser771Asn	p.S771N	ENST00000252087	NM_018929.2	771	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS4263.1	2312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGCCACT	NONE	.	.	hmmpanther:PTHR24028:SF80,hmmpanther:PTHR24028	.	.	ENSP00000252087	.	1/4	.	.	.	.	.	.	.	.	rs769927075	1/4	PASS	ENST00000252087	Transcript	.	.	ENSG00000240764	8718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	deleterious(0.03)	.	PCDGM_HUMAN	PCDHGC5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006D689	SNV	PCDHGC5,missense_variant,p.Ser771Asn,ENST00000252087,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGC3,intron_variant,,ENST00000308177,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGC4,intron_variant,,ENST00000306593,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;	2312	81	75	SUCCESS
SPINK1	6690	.	GRCh37	5	147207585	147207585	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs141634296	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	3	52	0	ENST00000296695.5:c.194G>A	p.Arg65Gln	p.R65Q	ENST00000296695	NM_003122.3	65	cGg/cAg	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS4286.1	194	MUTECT|MUSE	uncertain_significance	CTCACCGATTT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF100895,SMART_domains:SM00280,Pfam_domain:PF00050,Gene3D:3.30.60.30,hmmpanther:PTHR21312,PROSITE_profiles:PS51465	.	T:0.0009	ENSP00000296695	.	3/4	.	.	.	.	.	.	.	.	CM016009,rs141634296	3/4	common_in_exac	ENST00000296695	Transcript	1	.	ENSG00000164266	11244	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	17568390,17048,11368029,15800694,15980664,17525091	benign(0)	.	tolerated(0.27)	.	ISK1_HUMAN	SPINK1	HGNC	D6RIU5_HUMAN	.	UPI000012D7EC	SNV	SPINK1,missense_variant,p.Arg65Gln,ENST00000510027,;SPINK1,missense_variant,p.Arg65Gln,ENST00000296695,;SPINK1,splice_region_variant,,ENST00000505722,;	403	52	63	SUCCESS
FBXO38	81545	.	GRCh37	5	147819259	147819259	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767172791	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	50	106	0	ENST00000340253.5:c.3074A>G	p.Tyr1025Cys	p.Y1025C	ENST00000340253	NM_030793.4	1025	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS43384.1	2849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTATCACA	NONE	.	.	hmmpanther:PTHR14753	.	.	ENSP00000377895	.	19/22	.	.	.	.	.	.	.	.	rs767172791	19/22	PASS	ENST00000394370	Transcript	1	.	ENSG00000145868	28844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FBX38_HUMAN	FBXO38	HGNC	.	.	UPI000034ECEB	SNV	FBXO38,missense_variant,p.Tyr950Cys,ENST00000394370,;FBXO38,missense_variant,p.Tyr780Cys,ENST00000513826,;FBXO38,missense_variant,p.Tyr1025Cys,ENST00000340253,;FBXO38,missense_variant,p.Tyr780Cys,ENST00000296701,;FBXO38,non_coding_transcript_exon_variant,,ENST00000505399,;FBXO38,upstream_gene_variant,,ENST00000508176,;FBXO38,downstream_gene_variant,,ENST00000504447,;	2950	106	166	SUCCESS
SH3TC2	79628	.	GRCh37	5	148411195	148411195	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	14	99	0	ENST00000515425.1:c.1057G>T	p.Gly353Ter	p.G353*	ENST00000515425	NM_024577.3	353	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS4293.1	1057	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCCAGGG	NONE	.	.	hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,stop_gained,p.Gly353Ter,ENST00000515425,;SH3TC2,stop_gained,p.Gly346Ter,ENST00000512049,;SH3TC2,stop_gained,p.Gly238Ter,ENST00000394358,;SH3TC2,5_prime_UTR_variant,,ENST00000538184,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000503071,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000513340,;SH3TC2,stop_gained,p.Gly353Ter,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,upstream_gene_variant,,ENST00000510779,;	1159	99	124	SUCCESS
PDGFRB	5159	.	GRCh37	5	149497264	149497264	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775820153	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	56	0	ENST00000261799.4:c.3054C>A	p.Asp1018Glu	p.D1018E	ENST00000261799	NM_002609.3	1018	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS4303.1	3054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTGTCACC	NONE	.	.	hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948	.	.	ENSP00000261799	.	22/23	.	.	.	.	.	.	.	.	rs775820153	22/23	PASS	ENST00000261799	Transcript	1	.	ENSG00000113721	8804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	tolerated(0.23)	.	PGFRB_HUMAN	PDGFRB	HGNC	E5RJ14_HUMAN,E5RII0_HUMAN	.	UPI0000131791	SNV	PDGFRB,missense_variant,p.Asp1018Glu,ENST00000261799,;CSF1R,upstream_gene_variant,,ENST00000511344,;CSF1R,upstream_gene_variant,,ENST00000286301,;PDGFRB,upstream_gene_variant,,ENST00000520851,;PDGFRB,downstream_gene_variant,,ENST00000521723,;PDGFRB,downstream_gene_variant,,ENST00000519575,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;	3524	56	46	SUCCESS
SYNPO	11346	.	GRCh37	5	149997910	149997910	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	93	0	ENST00000394243.1:c.-20C>T		p.*7*	ENST00000394243	NM_001166208.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54937.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATCGCTGA	NONE	.	.	.	.	.	ENSP00000377789	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000394243	Transcript	.	.	ENSG00000171992	30672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNPO_HUMAN	SYNPO	HGNC	Q71HJ6_HUMAN	.	UPI000013F943	SNV	SYNPO,5_prime_UTR_variant,,ENST00000394243,;SYNPO,5_prime_UTR_variant,,ENST00000522122,;CTB-140J7.2,upstream_gene_variant,,ENST00000517474,;	355	93	103	SUCCESS
GEMIN5	25929	.	GRCh37	5	154305610	154305610	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	11	203	0	ENST00000285873.7:c.1105T>G	p.Leu369Val	p.L369V	ENST00000285873	NM_001252156.1	369	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4330.1	1105	MUTECT|MUSE	.	CTCCAAGGTGG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000285873	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	deleterious(0.02)	.	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,missense_variant,p.Leu369Val,ENST00000285873,;GEMIN5,downstream_gene_variant,,ENST00000523355,;	1181	203	172	SUCCESS
GABRA1	2554	.	GRCh37	5	161318012	161318012	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	8	121	0	ENST00000023897.6:c.812C>T	p.Ser271Phe	p.S271F	ENST00000023897	NM_000806.5	271	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4357.1	812	MUTECT|MUSE	.	AGTCTCCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000393097	.	9/11	.	.	.	.	.	.	.	.	COSM3247904	9/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.761)	.	deleterious(0)	1	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Ser271Phe,ENST00000444819,;GABRA1,missense_variant,p.Ser271Phe,ENST00000420560,;GABRA1,missense_variant,p.Ser271Phe,ENST00000393943,;GABRA1,missense_variant,p.Ser271Phe,ENST00000023897,;GABRA1,missense_variant,p.Ser271Phe,ENST00000437025,;GABRA1,missense_variant,p.Ser271Phe,ENST00000428797,;GABRA1,downstream_gene_variant,,ENST00000519542,;	1167	121	176	SUCCESS
LCP2	3937	.	GRCh37	5	169685155	169685155	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	10	98	0	ENST00000046794.5:c.986T>C	p.Leu329Ser	p.L329S	ENST00000046794	NM_005565.3	329	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS47339.1	986	MUTECT|MUSE	.	GGGGCAAAGGT	NONE	.	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1	.	.	ENSP00000046794	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.735)	.	deleterious(0)	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,missense_variant,p.Leu124Ser,ENST00000521416,;LCP2,missense_variant,p.Leu96Ser,ENST00000520344,;LCP2,missense_variant,p.Leu329Ser,ENST00000046794,;LCP2,non_coding_transcript_exon_variant,,ENST00000523369,;	1602	98	139	SUCCESS
DBN1	1627	.	GRCh37	5	176895871	176895871	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	9	103	0	ENST00000309007.5:c.116A>T	p.Asp39Val	p.D39V	ENST00000309007	NM_004395.3	39	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS4421.1	122	MUTECT|MUSE	.	GGTCATCGGAG	NONE	.	.	Superfamily_domains:SSF55753,SMART_domains:SM00102,Gene3D:3.40.20.10,Pfam_domain:PF00241,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829,PROSITE_profiles:PS51263	.	.	ENSP00000292385	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Asp39Val,ENST00000309007,;DBN1,missense_variant,p.Asp41Val,ENST00000292385,;DBN1,missense_variant,p.Asp39Val,ENST00000477391,;DBN1,missense_variant,p.Asp39Val,ENST00000393565,;DBN1,missense_variant,p.Asp39Val,ENST00000514833,;DBN1,5_prime_UTR_variant,,ENST00000506117,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,non_coding_transcript_exon_variant,,ENST00000505550,;DBN1,upstream_gene_variant,,ENST00000471767,;	732	103	127	SUCCESS
PDLIM7	9260	.	GRCh37	5	176916422	176916422	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750552323	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	88	0	ENST00000355841.2:c.841G>A	p.Val281Met	p.V281M	ENST00000355841	NM_005451.4	281	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS4422.1	841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACACGGGAG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24214,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000348099	.	9/13	.	.	.	.	.	.	.	.	rs750552323	9/13	PASS	ENST00000355841	Transcript	.	.	ENSG00000196923	22958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	tolerated(0.89)	.	PDLI7_HUMAN	PDLIM7	HGNC	D6RF83_HUMAN,D6RAN1_HUMAN	.	UPI0000073DEF	SNV	PDLIM7,missense_variant,p.Val247Met,ENST00000359895,;PDLIM7,missense_variant,p.Arg260His,ENST00000393551,;PDLIM7,missense_variant,p.Val281Met,ENST00000355841,;PDLIM7,missense_variant,p.Arg260His,ENST00000356618,;PDLIM7,downstream_gene_variant,,ENST00000506161,;PDLIM7,downstream_gene_variant,,ENST00000355572,;PDLIM7,downstream_gene_variant,,ENST00000506537,;PDLIM7,downstream_gene_variant,,ENST00000505074,;PDLIM7,downstream_gene_variant,,ENST00000393546,;PDLIM7,upstream_gene_variant,,ENST00000505746,;PDLIM7,3_prime_UTR_variant,,ENST00000493815,;PDLIM7,3_prime_UTR_variant,,ENST00000486828,;PDLIM7,downstream_gene_variant,,ENST00000503346,;PDLIM7,downstream_gene_variant,,ENST00000504318,;PDLIM7,downstream_gene_variant,,ENST00000463411,;PDLIM7,downstream_gene_variant,,ENST00000503827,;PDLIM7,upstream_gene_variant,,ENST00000504380,;	908	88	58	SUCCESS
BTNL3	10917	.	GRCh37	5	180432823	180432823	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs763156873	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	219	13	161	0	ENST00000342868.6:c.1352A>C	p.Asp451Ala	p.D451A	ENST00000342868	NM_197975.2	451	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS47358.1	1352	MUTECT|MUSE	.	GTATGACGAGG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000341787	.	8/8	.	.	.	.	.	.	.	.	rs763156873	8/8	PASS	ENST00000342868	Transcript	.	.	ENSG00000168903	1143	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.122)	.	deleterious(0.03)	.	BTNL3_HUMAN	BTNL3	HGNC	.	.	UPI00001D69EF	SNV	BTNL3,missense_variant,p.Asp451Ala,ENST00000342868,;RNU6-1036P,upstream_gene_variant,,ENST00000383959,;	1536	161	232	SUCCESS
PRLR	5618	.	GRCh37	5	35089695	35089695	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760520393	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	110	0	ENST00000382002.5:c.28G>A	p.Val10Ile	p.V10I	ENST00000382002	NM_000949.5	10	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS3909.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACGGTTG	NONE	byFrequency	.	hmmpanther:PTHR23036:SF86,hmmpanther:PTHR23036,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000371432	.	3/10	.	.	.	.	.	.	.	.	rs760520393	3/10	PASS	ENST00000382002	Transcript	1	.	ENSG00000113494	9446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.37)	.	PRLR_HUMAN	PRLR	HGNC	D6RD41_HUMAN,D6RC67_HUMAN,D6RAN9_HUMAN,D6R9V7_HUMAN,D6R9P5_HUMAN	.	UPI0000132234	SNV	PRLR,missense_variant,p.Val10Ile,ENST00000310101,;PRLR,missense_variant,p.Val10Ile,ENST00000382002,;PRLR,missense_variant,p.Val10Ile,ENST00000509839,;PRLR,missense_variant,p.Val10Ile,ENST00000342362,;PRLR,missense_variant,p.Val10Ile,ENST00000542609,;PRLR,missense_variant,p.Val10Ile,ENST00000504500,;PRLR,missense_variant,p.Val10Ile,ENST00000513753,;PRLR,missense_variant,p.Val10Ile,ENST00000503330,;PRLR,missense_variant,p.Val10Ile,ENST00000348262,;PRLR,missense_variant,p.Val10Ile,ENST00000511486,;PRLR,missense_variant,p.Val10Ile,ENST00000231423,;PRLR,missense_variant,p.Val10Ile,ENST00000515839,;PRLR,missense_variant,p.Val10Ile,ENST00000514206,;PRLR,5_prime_UTR_variant,,ENST00000397391,;PRLR,upstream_gene_variant,,ENST00000509934,;PRLR,missense_variant,p.Val10Ile,ENST00000509140,;PRLR,missense_variant,p.Val10Ile,ENST00000514088,;PRLR,missense_variant,p.Val10Ile,ENST00000508107,;	455	110	80	SUCCESS
IRX1	79192	.	GRCh37	5	3599577	3599577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	29	189	0	ENST00000302006.3:c.515C>A	p.Thr172Lys	p.T172K	ENST00000302006	NM_024337.3	172	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS34132.1	515	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACGCAGG	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF05920,PROSITE_patterns:PS00027,hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,PROSITE_profiles:PS50071	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Thr172Lys,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	567	189	186	SUCCESS
EGFLAM	133584	.	GRCh37	5	38370498	38370498	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369204325	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	19	48	0	ENST00000354891.3:c.646G>T	p.Val216Leu	p.V216L	ENST00000354891	NM_001205301.1	216	Gtg/Ttg	0	A:0.0005	.	.	.	.	T	V/L	protein_coding	YES	CCDS56363.1	646	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGTGAGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	A:0	ENSP00000346964	.	6/23	.	.	.	.	.	.	.	.	rs369204325	6/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.291)	.	tolerated_low_confidence(0.09)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Val216Leu,ENST00000354891,;EGFLAM,missense_variant,p.Val216Leu,ENST00000322350,;	992	48	138	SUCCESS
SEPP1	0	.	GRCh37	5	42804757	42804757	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	248	15	234	0	ENST00000506577.1:c.534+1G>T		p.X178_splice	ENST00000506577		178		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43311.1	.	MUTECT|MUSE	.	AAATACCGTGA	NONE	.	.	.	.	.	ENSP00000420939	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000514985	Transcript	.	.	ENSG00000250722	10751	.	.	HIGH	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,splice_donor_variant,,ENST00000506577,;SEPP1,splice_donor_variant,,ENST00000510965,;SEPP1,splice_donor_variant,,ENST00000511224,;SEPP1,splice_donor_variant,,ENST00000514218,;SEPP1,splice_donor_variant,,ENST00000514985,;SEPP1,intron_variant,,ENST00000507920,;CCDC152,downstream_gene_variant,,ENST00000388827,;CCDC152,downstream_gene_variant,,ENST00000361970,;CTD-2325A15.5,upstream_gene_variant,,ENST00000606056,;SEPP1,splice_donor_variant,,ENST00000509276,;SEPP1,intron_variant,,ENST00000513303,;SEPP1,downstream_gene_variant,,ENST00000515626,;SEPP1,splice_donor_variant,,ENST00000512980,;SEPP1,splice_donor_variant,,ENST00000514403,;SEPP1,downstream_gene_variant,,ENST00000506078,;SEPP1,downstream_gene_variant,,ENST00000510650,;SEPP1,downstream_gene_variant,,ENST00000508937,;SEPP1,downstream_gene_variant,,ENST00000505309,;	.	234	263	SUCCESS
PDE4D	5144	.	GRCh37	5	58882174	58882174	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	11	151	0	ENST00000340635.6:c.455+306821A>G		p.*152*	ENST00000340635	NM_001104631.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47213.1	.	MUTECT|MUSE	.	CCTTCTAAAGG	NONE	.	.	.	.	.	ENSP00000345502	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODIFIER	1/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,missense_variant,p.Arg10Gly,ENST00000360047,;PDE4D,5_prime_UTR_variant,,ENST00000505453,;PDE4D,intron_variant,,ENST00000546160,;PDE4D,intron_variant,,ENST00000340635,;PDE4D,intron_variant,,ENST00000507116,;PDE4D,intron_variant,,ENST00000502484,;PDE4D,intron_variant,,ENST00000502575,;PDE4D,intron_variant,,ENST00000405053,;PDE4D,intron_variant,,ENST00000512069,;PDE4D,intron_variant,,ENST00000309641,;PDE4D,intron_variant,,ENST00000514231,;	.	151	187	SUCCESS
SGTB	54557	.	GRCh37	5	64976616	64976616	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	65	94	0	ENST00000381007.4:c.485C>T	p.Ala162Val	p.A162V	ENST00000381007	NM_019072.2	162	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3988.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGCCAGC	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904:SF290,hmmpanther:PTHR22904,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000370395	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000381007	Transcript	.	.	ENSG00000197860	23567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SGTB_HUMAN	SGTB	HGNC	O75589_HUMAN,D6RFW1_HUMAN	.	UPI000004D24F	SNV	SGTB,missense_variant,p.Ala162Val,ENST00000381007,;SGTB,missense_variant,p.Ala162Val,ENST00000506816,;	721	94	129	SUCCESS
FCHO2	115548	.	GRCh37	5	72348291	72348292	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	301	91	228	0	ENST00000430046.2:c.1134dup	p.Val379SerfsTer14	p.V379Sfs*14	ENST00000430046	NM_138782.2	377	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS47230.1	1130-1131	VARSCANI*|PINDEL	.	TGAATTAAAAG	NONE	.	.	hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8	.	.	ENSP00000393776	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000430046	Transcript	.	.	ENSG00000157107	25180	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FCHO2_HUMAN	FCHO2	HGNC	B4DEU7_HUMAN	.	UPI000019971A	insertion	FCHO2,frameshift_variant,p.Val346SerfsTer14,ENST00000512348,;FCHO2,frameshift_variant,p.Val379SerfsTer21,ENST00000341845,;FCHO2,frameshift_variant,p.Val379SerfsTer14,ENST00000430046,;FCHO2,non_coding_transcript_exon_variant,,ENST00000503302,;	1246-1247	228	392	SUCCESS
AGGF1	55109	.	GRCh37	5	76342270	76342270	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	15	171	0	ENST00000312916.7:c.969C>T	p.Gly323=	p.G323=	ENST00000312916	NM_018046.4	323	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4035.1	969	MUTECT|MUSE|VARSCANS	.	ATAGGCATTCA	NONE	.	.	hmmpanther:PTHR23106	.	.	ENSP00000316109	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000312916	Transcript	1	.	ENSG00000164252	24684	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AGGF1_HUMAN	AGGF1	HGNC	A8K029_HUMAN	.	UPI0000231C8D	SNV	AGGF1,synonymous_variant,p.%3D,ENST00000312916,;	1351	171	189	SUCCESS
RHOBTB3	22836	.	GRCh37	5	95091309	95091309	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772887011	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	13	203	0	ENST00000379982.3:c.892A>G	p.Ile298Val	p.I298V	ENST00000379982	NM_014899.3	298	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4077.1	892	MUTECT|MUSE	.	CCAGTATCATC	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24072:SF122,hmmpanther:PTHR24072,Pfam_domain:PF00651,SMART_domains:SM00225	.	.	ENSP00000369318	.	6/12	.	.	.	.	.	.	.	.	rs772887011	6/12	PASS	ENST00000379982	Transcript	.	.	ENSG00000164292	18757	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.57)	.	RHBT3_HUMAN	RHOBTB3	HGNC	.	.	UPI0000367303	SNV	RHOBTB3,missense_variant,p.Ile298Val,ENST00000379982,;GLRX,intron_variant,,ENST00000508780,;RHOBTB3,3_prime_UTR_variant,,ENST00000502541,;RHOBTB3,non_coding_transcript_exon_variant,,ENST00000504949,;RHOBTB3,downstream_gene_variant,,ENST00000510623,;	1400	203	259	SUCCESS
ELL2	22936	.	GRCh37	5	95226823	95226823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	12	172	1	ENST00000237853.4:c.1745G>T	p.Gly582Val	p.G582V	ENST00000237853	NM_012081.5	582	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4080.1	1745	MUTECT|MUSE	.	TTGAGCCTGGA	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288,Pfam_domain:PF07303,Superfamily_domains:0053542	.	.	ENSP00000237853	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,missense_variant,p.Gly332Val,ENST00000431061,;ELL2,missense_variant,p.Gly100Val,ENST00000508757,;ELL2,missense_variant,p.Gly582Val,ENST00000237853,;	2095	173	156	SUCCESS
REV3L	5980	.	GRCh37	6	111678241	111678241	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	21	157	0	ENST00000358835.3:c.7160A>T	p.His2387Leu	p.H2387L	ENST00000358835		2387	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5091.2	7160	MUTECT|MUSE|VARSCANS	.	TTTCATGAAAA	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00486,Gene3D:3.30.420.10,Pfam_domain:PF03104,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	deleterious(0.03)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.His2387Leu,ENST00000358835,;REV3L,missense_variant,p.His2387Leu,ENST00000368802,;REV3L,missense_variant,p.His2387Leu,ENST00000368805,;REV3L,missense_variant,p.His2309Leu,ENST00000435970,;REV3L-IT1,downstream_gene_variant,,ENST00000411895,;REV3L,missense_variant,p.Met180Leu,ENST00000413831,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,non_coding_transcript_exon_variant,,ENST00000467500,;FCF1P5,downstream_gene_variant,,ENST00000406490,;	7615	157	135	SUCCESS
HDAC2	3066	.	GRCh37	6	114264582	114264582	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	140	0	ENST00000519065.1:c.1311T>A	p.Asp437Glu	p.D437E	ENST00000519065		437	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS43493.2	1311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGATCAGC	NONE	.	.	hmmpanther:PTHR10625:SF60,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037913	.	.	ENSP00000430432	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000519065	Transcript	.	.	ENSG00000196591	4853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.23)	.	HDAC2_HUMAN	HDAC2	HGNC	E5RK19_HUMAN,E5RJ04_HUMAN,E5RHE7_HUMAN,E5RH52_HUMAN,E5RGV4_HUMAN,E5RG37_HUMAN,E5RFI6_HUMAN,B3KRS5_HUMAN	.	UPI000020E11B	SNV	HDAC2,missense_variant,p.Asp531Glu,ENST00000398283,;HDAC2,missense_variant,p.Asp407Glu,ENST00000368632,;HDAC2,missense_variant,p.Asp437Glu,ENST00000519065,;HDAC2,missense_variant,p.Asp407Glu,ENST00000519108,;HDAC2,non_coding_transcript_exon_variant,,ENST00000523334,;HDAC2,downstream_gene_variant,,ENST00000520746,;	1688	140	62	SUCCESS
TPD52L1	7164	.	GRCh37	6	125584076	125584076	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs559154046	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	31	0	ENST00000534000.1:c.583C>T	p.Arg195Trp	p.R195W	ENST00000534000	NM_003287.2	195	Cgg/Tgg	0	.	T:0.0008	.	T:0	.	T	R/W	protein_coding	YES	CCDS5130.1	583	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTCCCGGCGG	NONE	by1000G	.	hmmpanther:PTHR19307:SF8,hmmpanther:PTHR19307	T:0	.	ENSP00000434142	T:0	7/7	.	.	.	.	.	.	.	.	rs559154046	7/7	PASS	ENST00000534000	Transcript	.	T:0.0002	ENSG00000111907	12006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	T:0	deleterious_low_confidence(0.02)	.	TPD53_HUMAN	TPD52L1	HGNC	F6V707_HUMAN,E9PNQ9_HUMAN	.	UPI0000136B40	SNV	TPD52L1,missense_variant,p.Arg182Trp,ENST00000527711,;TPD52L1,missense_variant,p.Arg195Trp,ENST00000534000,;TPD52L1,missense_variant,p.Arg166Trp,ENST00000532429,;TPD52L1,missense_variant,p.Arg200Trp,ENST00000304877,;TPD52L1,3_prime_UTR_variant,,ENST00000392482,;TPD52L1,3_prime_UTR_variant,,ENST00000528193,;TPD52L1,3_prime_UTR_variant,,ENST00000534199,;TPD52L1,3_prime_UTR_variant,,ENST00000368402,;TPD52L1,3_prime_UTR_variant,,ENST00000524679,;TPD52L1,3_prime_UTR_variant,,ENST00000368388,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000576089,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000530868,;HDDC2,intron_variant,,ENST00000608456,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000571678,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000532423,;HDDC2,intron_variant,,ENST00000609477,;	879	31	47	SUCCESS
LAMA2	3908	.	GRCh37	6	129691127	129691127	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	42	0	ENST00000421865.2:c.4951C>T	p.Leu1651=	p.L1651=	ENST00000421865	NM_001079823.1	1651	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5138.1	4951	MUTECT|MUSE	.	AGCTGCTGACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Pfam_domain:PF06008	.	.	ENSP00000400365	.	34/65	.	.	.	.	.	.	.	.	.	34/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,synonymous_variant,p.%3D,ENST00000421865,;	5000	42	37	SUCCESS
NMBR	4829	.	GRCh37	6	142409410	142409410	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	21	0	ENST00000258042.1:c.386T>G	p.Val129Gly	p.V129G	ENST00000258042	NM_002511.2	129	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS5196.1	386	RADIA|MUTECT|VARSCANS	.	CGGAAACCCCC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00358,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_patterns:PS00237,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,PROSITE_profiles:PS50262	.	.	ENSP00000258042	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258042	Transcript	.	.	ENSG00000135577	7843	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	NMBR_HUMAN	NMBR	HGNC	.	.	UPI000013CFAB	SNV	NMBR,missense_variant,p.Val129Gly,ENST00000258042,;RP11-137J7.2,non_coding_transcript_exon_variant,,ENST00000454401,;	527	21	30	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151161944	151161944	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	108	0	ENST00000358517.2:c.4070T>G	p.Leu1357Arg	p.L1357R	ENST00000358517		1357	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS34552.1	4070	RADIA|MUTECT|MUSE|VARSCANS	.	CTATCTTTGGA	NONE	.	.	.	.	.	ENSP00000356297	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000367328	Transcript	.	.	ENSG00000120278	20884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	SNV	PLEKHG1,missense_variant,p.Leu1357Arg,ENST00000367328,;PLEKHG1,missense_variant,p.Leu1357Arg,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;	4382	108	68	SUCCESS
JARID2	3720	.	GRCh37	6	15507624	15507624	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	6	97	0	ENST00000341776.2:c.2708T>A	p.Leu903Gln	p.L903Q	ENST00000341776	NM_004973.3	903	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4533.1	2708	MUTECT|MUSE	.	CATCCTGCGTC	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR10694,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000341280	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Leu731Gln,ENST00000397311,;JARID2,missense_variant,p.Leu865Gln,ENST00000541660,;JARID2,missense_variant,p.Leu903Gln,ENST00000341776,;JARID2,non_coding_transcript_exon_variant,,ENST00000474854,;	2952	97	106	SUCCESS
IGF2R	3482	.	GRCh37	6	160454027	160454027	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	105	0	ENST00000356956.1:c.1099G>T	p.Gly367Ter	p.G367*	ENST00000356956	NM_000876.2	367	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS5273.1	1099	MUTECT|MUSE	.	TCTGTGGAGAA	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,stop_gained,p.Gly367Ter,ENST00000356956,;	1247	105	69	SUCCESS
PDE10A	10846	.	GRCh37	6	165846593	165846593	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	9	150	0	ENST00000366882.1:c.532G>C	p.Gly178Arg	p.G178R	ENST00000366882		178	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS47513.1	562	MUTECT|MUSE	.	CAGTCCAGTAC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000438284	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,missense_variant,p.Gly178Arg,ENST00000354448,;PDE10A,missense_variant,p.Gly188Arg,ENST00000539869,;PDE10A,missense_variant,p.Gly178Arg,ENST00000366882,;	618	150	151	SUCCESS
PHF10	55274	.	GRCh37	6	170105298	170105298	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	144	0	ENST00000339209.4:c.1342A>G	p.Met448Val	p.M448V	ENST00000339209	NM_133325.2	448	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS5308.2	1342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATTTCTT	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Gene3D:3.30.40.10,hmmpanther:PTHR10615,Pfam_domain:PF00628,PROSITE_profiles:PS50016	.	.	ENSP00000341805	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000339209	Transcript	.	.	ENSG00000130024	18250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	PHF10_HUMAN	PHF10	HGNC	S5FMB0_HUMAN	.	UPI0000EE1F6E	SNV	PHF10,missense_variant,p.Met446Val,ENST00000366780,;PHF10,missense_variant,p.Met448Val,ENST00000339209,;C6orf120,3_prime_UTR_variant,,ENST00000332290,;C6orf120,downstream_gene_variant,,ENST00000439249,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	1466	144	88	SUCCESS
PRL	5617	.	GRCh37	6	22294684	22294684	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	307	15	142	0	ENST00000306482.1:c.158T>A	p.Leu53Gln	p.L53Q	ENST00000306482	NM_000948.5	53	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS4548.1	158	MUTECT|MUSE	.	GGGACAGGACG	NONE	.	.	hmmpanther:PTHR11417:SF5,hmmpanther:PTHR11417,Pfam_domain:PF00103,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000302150	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000306482	Transcript	.	.	ENSG00000172179	9445	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	tolerated(0.07)	.	PRL_HUMAN	PRL	HGNC	Q5THQ0_HUMAN,Q5I0G2_HUMAN	.	UPI0000001C13	SNV	PRL,missense_variant,p.Leu53Gln,ENST00000306482,;RP3-404K8.2,intron_variant,,ENST00000561912,;	677	142	322	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156943	26156943	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	17	66	0	ENST00000304218.3:c.325A>T	p.Lys109Ter	p.K109*	ENST00000304218	NM_005321.2	109	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4586.1	325	MUTECT|MUSE	.	TCAACAAGAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,stop_gained,p.Lys109Ter,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	385	66	201	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156946	26156946	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	186	17	62	0	ENST00000304218.3:c.328A>T	p.Lys110Ter	p.K110*	ENST00000304218	NM_005321.2	110	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4586.1	328	MUTECT|MUSE	.	ACAAGAAGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,stop_gained,p.Lys110Ter,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	388	62	203	SUCCESS
HIST1H1B	0	.	GRCh37	6	27834715	27834715	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	128	331	0	ENST00000331442.3:c.593C>A	p.Pro198Gln	p.P198Q	ENST00000331442	NM_005322.2	198	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS4635.1	593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCGGCTTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF24,hmmpanther:PTHR11467,Prints_domain:PR00624	.	.	ENSP00000330074	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331442	Transcript	.	.	ENSG00000184357	4719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	H15_HUMAN	HIST1H1B	HGNC	.	.	UPI0000001BDA	SNV	HIST1H1B,missense_variant,p.Pro198Gln,ENST00000331442,;HIST1H2AL,downstream_gene_variant,,ENST00000357320,;HIST1H3I,downstream_gene_variant,,ENST00000328488,;HIST1H2BPS2,upstream_gene_variant,,ENST00000402707,;	645	331	244	SUCCESS
ZNF192P1	651302	.	GRCh37	6	28134514	28134514	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	10	61	0	ENST00000440790.2:n.617G>T		p.*206*	ENST00000440790				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	GCCTTGTTCGA	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000440790	Transcript	.	.	ENSG00000226314	18777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF192P1	HGNC	.	.	.	SNV	ZNF192P1,non_coding_transcript_exon_variant,,ENST00000562227,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000440790,;ZNF192P1,downstream_gene_variant,,ENST00000570126,;ZNF192P1,downstream_gene_variant,,ENST00000570042,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000565888,;	617	61	124	SUCCESS
PGBD1	84547	.	GRCh37	6	28268801	28268801	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs143874020	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	9	59	0	ENST00000259883.3:c.1170G>C	p.Trp390Cys	p.W390C	ENST00000259883		390	tgG/tgC	0	C:0.0002	.	.	.	.	C	W/C	protein_coding	YES	CCDS4648.1	1170	MUTECT|MUSE	.	AGTTGGACCAA	NONE	byCluster	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9	.	C:0	ENSP00000385213	.	7/7	.	.	.	.	.	.	.	.	rs143874020	7/7	PASS	ENST00000405948	Transcript	.	.	ENSG00000137338	19398	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PGBD1_HUMAN	PGBD1	HGNC	.	.	UPI000006ED63	SNV	PGBD1,missense_variant,p.Trp390Cys,ENST00000405948,;PGBD1,missense_variant,p.Trp390Cys,ENST00000259883,;	1590	59	124	SUCCESS
PGBD1	84547	.	GRCh37	6	28269056	28269056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	294	14	220	0	ENST00000259883.3:c.1425G>T	p.Arg475Ser	p.R475S	ENST00000259883		475	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4648.1	1425	MUTECT|MUSE	.	AGAAGGGAAAT	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9,Pfam_domain:PF13843	.	.	ENSP00000385213	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000405948	Transcript	.	.	ENSG00000137338	19398	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.864)	.	deleterious(0.03)	.	PGBD1_HUMAN	PGBD1	HGNC	.	.	UPI000006ED63	SNV	PGBD1,missense_variant,p.Arg475Ser,ENST00000405948,;PGBD1,missense_variant,p.Arg475Ser,ENST00000259883,;	1845	220	309	SUCCESS
OR11A1	26531	.	GRCh37	6	29395051	29395051	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1188530059	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	11	63	0	ENST00000377147.2:c.368G>A	p.Arg123His	p.R123H	ENST00000377147	NM_013937.2	123	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34363.1	368	MUTECT|MUSE	.	GGTAGCGGTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF178,hmmpanther:PTHR24242,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366354	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377149	Transcript	.	.	ENSG00000204694	8176	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.909)	.	deleterious(0.01)	.	O11A1_HUMAN	OR11A1	HGNC	.	.	UPI000000DCA8	SNV	OR11A1,missense_variant,p.Arg123His,ENST00000377149,;OR11A1,missense_variant,p.Arg123His,ENST00000377148,;OR11A1,missense_variant,p.Arg123His,ENST00000377147,;OR5V1,intron_variant,,ENST00000377154,;	841	63	214	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31083770	31083770	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	34	66	0	ENST00000259881.9:c.-229+1102C>A		p.*77*	ENST00000259881	NM_014068.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34389.1	.	MUTECT|MUSE	.	TGTGCCCAAGG	NONE	.	.	.	.	.	ENSP00000365465	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376288	Transcript	.	.	ENSG00000204539	1802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CDSN	HGNC	Q7Z560_HUMAN,G8JLG2_HUMAN	.	UPI00001AFE92	SNV	CDSN,3_prime_UTR_variant,,ENST00000376288,;PSORS1C1,intron_variant,,ENST00000259881,;C6orf15,upstream_gene_variant,,ENST00000259870,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000467107,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,intron_variant,,ENST00000493289,;PSORS1C1,intron_variant,,ENST00000548049,;PSORS1C1,intron_variant,,ENST00000552747,;PSORS1C1,intron_variant,,ENST00000550838,;	1649	66	148	SUCCESS
PPT2	9374	.	GRCh37	6	32123651	32123651	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749336768	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	387	16	239	0	ENST00000324816.6:c.437C>T	p.Thr146Met	p.T146M	ENST00000324816		146	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS4740.1	455	MUTECT|MUSE	.	AGACACGGACT	NONE	byFrequency	.	hmmpanther:PTHR11247:SF22,hmmpanther:PTHR11247,Gene3D:3.40.50.1820,Pfam_domain:PF02089,Superfamily_domains:SSF53474	.	.	ENSP00000354608	.	5/9	.	.	.	.	.	.	.	.	rs749336768	5/9	PASS	ENST00000361568	Transcript	.	.	ENSG00000221988	9326	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	.	PPT2	HGNC	G8JLL2_HUMAN,G8JLE1_HUMAN	.	UPI0000457411	SNV	PPT2,missense_variant,p.Thr146Met,ENST00000395523,;PPT2,missense_variant,p.Thr146Met,ENST00000324816,;PPT2,missense_variant,p.Thr146Met,ENST00000375143,;PPT2,missense_variant,p.Thr68Met,ENST00000424499,;PPT2,missense_variant,p.Thr146Met,ENST00000375137,;PPT2,missense_variant,p.Thr146Met,ENST00000414204,;PPT2,missense_variant,p.Thr152Met,ENST00000361568,;PPT2,missense_variant,p.Thr146Met,ENST00000445576,;PPT2,missense_variant,p.Thr23Met,ENST00000437001,;PRRT1,upstream_gene_variant,,ENST00000211413,;PRRT1,upstream_gene_variant,,ENST00000375150,;PRRT1,upstream_gene_variant,,ENST00000428778,;PRRT1,upstream_gene_variant,,ENST00000375152,;PPT2-EGFL8,non_coding_transcript_exon_variant,,ENST00000453656,;PPT2,non_coding_transcript_exon_variant,,ENST00000478521,;PPT2,non_coding_transcript_exon_variant,,ENST00000493548,;PRRT1,upstream_gene_variant,,ENST00000472641,;PRRT1,upstream_gene_variant,,ENST00000485392,;PPT2,downstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000497552,;PRRT1,upstream_gene_variant,,ENST00000494332,;PRRT1,upstream_gene_variant,,ENST00000498575,;PRRT1,upstream_gene_variant,,ENST00000475826,;PRRT1,upstream_gene_variant,,ENST00000486917,;PPT2-EGFL8,missense_variant,p.Arg95Trp,ENST00000585246,;PPT2-EGFL8,missense_variant,p.Thr146Met,ENST00000428388,;PPT2-EGFL8,missense_variant,p.Arg95Trp,ENST00000583227,;PPT2-EGFL8,missense_variant,p.Thr146Met,ENST00000422437,;PPT2,missense_variant,p.Arg95Trp,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000479001,;PPT2,upstream_gene_variant,,ENST00000495908,;PRRT1,upstream_gene_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000421600,;	559	239	403	SUCCESS
RXRB	6257	.	GRCh37	6	33166198	33166198	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs776043869	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	10	52	0	ENST00000374680.3:c.527del	p.Pro176LeufsTer4	p.P176Lfs*4	ENST00000374680	NM_021976.4	176	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS59007.1	527	INDELOCATOR*|PINDEL	.	TCTTCAGGGGGG	NONE	.	.	hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083	.	.	ENSP00000363817	.	3/10	.	.	.	.	.	.	.	.	rs776043869,COSM1443734	3/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	deletion	RXRB,frameshift_variant,p.Pro80LeufsTer4,ENST00000413614,;RXRB,frameshift_variant,p.Pro176LeufsTer4,ENST00000374680,;RXRB,frameshift_variant,p.Pro176LeufsTer4,ENST00000374685,;RXRB,intron_variant,,ENST00000544186,;SLC39A7,upstream_gene_variant,,ENST00000374675,;SLC39A7,upstream_gene_variant,,ENST00000444757,;SLC39A7,upstream_gene_variant,,ENST00000374677,;RNY4P10,upstream_gene_variant,,ENST00000365571,;SLC39A7,upstream_gene_variant,,ENST00000463972,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,upstream_gene_variant,,ENST00000483821,;	665	52	117	SUCCESS
ZBTB9	221504	.	GRCh37	6	33423961	33423961	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	63	0	ENST00000395064.2:c.1084G>A	p.Gly362Arg	p.G362R	ENST00000395064	NM_152735.3	362	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS4780.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGGAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24414:SF24,hmmpanther:PTHR24414	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.12)	.	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	SNV	ZBTB9,missense_variant,p.Gly362Arg,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000428982,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	1352	63	69	SUCCESS
ITPR3	3710	.	GRCh37	6	33657110	33657110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	55	0	ENST00000374316.5:c.6790C>A	p.Leu2264Ile	p.L2264I	ENST00000374316		2264	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS4783.1	6790	MUTECT|VARSCANS	.	GCCCCCTCATC	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	51/59	.	.	.	.	.	.	.	.	.	51/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.09)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Leu2264Ile,ENST00000374316,;ITPR3,missense_variant,p.Leu2264Ile,ENST00000605930,;UQCC2,downstream_gene_variant,,ENST00000606961,;	7850	55	76	SUCCESS
C6orf106	0	.	GRCh37	6	34574641	34574641	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	62	0	ENST00000374023.3:c.552T>G	p.Leu184=	p.L184=	ENST00000374023	NM_024294.2	184	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4796.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAAAGTCC	NONE	.	.	hmmpanther:PTHR20930	.	.	ENSP00000363135	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000374023	Transcript	.	.	ENSG00000196821	21215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF106_HUMAN	C6orf106	HGNC	Q5TH58_HUMAN	.	UPI000006F934	SNV	C6orf106,synonymous_variant,p.%3D,ENST00000374021,;C6orf106,synonymous_variant,p.%3D,ENST00000374026,;C6orf106,synonymous_variant,p.%3D,ENST00000374023,;	796	62	45	SUCCESS
UHRF1BP1	54887	.	GRCh37	6	34802105	34802105	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	152	159	1	ENST00000192788.5:c.450C>A	p.Leu150=	p.L150=	ENST00000192788	NM_017754.3	150	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43455.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCAGGG	NONE	.	.	hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	.	.	ENSP00000192788	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000192788	Transcript	.	.	ENSG00000065060	21216	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	URFB1_HUMAN	UHRF1BP1	HGNC	.	.	UPI00001B654C	SNV	UHRF1BP1,synonymous_variant,p.%3D,ENST00000192788,;UHRF1BP1,synonymous_variant,p.%3D,ENST00000452449,;	621	160	258	SUCCESS
RPL10A	4736	.	GRCh37	6	35436589	35436589	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	38	0	ENST00000322203.6:c.19C>G	p.Arg7Gly	p.R7G	ENST00000322203	NM_007104.4	7	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS4806.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCGCGAC	NONE	.	.	hmmpanther:PTHR23105,hmmpanther:PTHR23105:SF36,Gene3D:3.30.190.20,PIRSF_domain:PIRSF002155,Superfamily_domains:SSF56808	.	.	ENSP00000363018	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000322203	Transcript	.	.	ENSG00000198755	10299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.4)	.	RL10A_HUMAN	RPL10A	HGNC	.	.	UPI0000025FC8	SNV	RPL10A,missense_variant,p.Arg7Gly,ENST00000322203,;TEAD3,downstream_gene_variant,,ENST00000402886,;TEAD3,downstream_gene_variant,,ENST00000338863,;FANCE,downstream_gene_variant,,ENST00000229769,;RPL10A,non_coding_transcript_exon_variant,,ENST00000464112,;RPL10A,non_coding_transcript_exon_variant,,ENST00000490335,;RPL10A,non_coding_transcript_exon_variant,,ENST00000478340,;RPL10A,non_coding_transcript_exon_variant,,ENST00000467020,;	46	38	45	SUCCESS
KCTD20	222658	.	GRCh37	6	36447368	36447368	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	58	0	ENST00000373731.2:c.538G>T	p.Asp180Tyr	p.D180Y	ENST00000373731	NM_173562.3	180	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4821.1	538	MUTECT|MUSE	.	TACAGGATTAT	NONE	.	.	hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000362836	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000373731	Transcript	.	.	ENSG00000112078	21052	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KCD20_HUMAN	KCTD20	HGNC	F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN	.	UPI00001AADF6	SNV	KCTD20,missense_variant,p.Asp35Tyr,ENST00000536244,;KCTD20,missense_variant,p.Asp180Tyr,ENST00000373731,;KCTD20,intron_variant,,ENST00000544295,;KCTD20,intron_variant,,ENST00000449081,;KCTD20,downstream_gene_variant,,ENST00000460983,;KCTD20,downstream_gene_variant,,ENST00000498267,;KCTD20,downstream_gene_variant,,ENST00000483557,;KCTD20,intron_variant,,ENST00000474988,;KCTD20,missense_variant,p.Trp88Cys,ENST00000265344,;KCTD20,intron_variant,,ENST00000481911,;	929	58	78	SUCCESS
CDKN1A	1026	.	GRCh37	6	36651880	36651880	+	start_lost	Translation_Start_Site	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	26	48	0	ENST00000244741.5:c.2T>G	p.Met1?	p.M1?	ENST00000244741	NM_000389.4	1	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS4824.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCATGTCAG	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious_low_confidence(0)	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,start_lost,p.Met1?,ENST00000244741,;CDKN1A,start_lost,p.Met1?,ENST00000373711,;CDKN1A,start_lost,p.Met1?,ENST00000405375,;CDKN1A,missense_variant,p.Met35Arg,ENST00000448526,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	237	48	125	SUCCESS
CDKN1A	1026	.	GRCh37	6	36651881	36651881	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	25	49	0	ENST00000244741.5:c.3G>T	p.Met1?	p.M1?	ENST00000244741	NM_000389.4	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4824.1	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGTCAGA	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious_low_confidence(0)	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,start_lost,p.Met1?,ENST00000244741,;CDKN1A,start_lost,p.Met1?,ENST00000373711,;CDKN1A,start_lost,p.Met1?,ENST00000405375,;CDKN1A,missense_variant,p.Met35Ile,ENST00000448526,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	238	49	124	SUCCESS
DNAH8	1769	.	GRCh37	6	38747836	38747836	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	15	134	0	ENST00000359357.3:c.1483A>T	p.Lys495Ter	p.K495*	ENST00000359357		495	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	.	1483	MUTECT|MUSE	.	CTACTAAGAAG	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	13/91	.	.	.	.	.	.	.	.	.	13/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,stop_gained,p.Lys495Ter,ENST00000359357,;DNAH8,stop_gained,p.Lys700Ter,ENST00000327475,;DNAH8,stop_gained,p.Lys495Ter,ENST00000441566,;DNAH8,stop_gained,p.Lys712Ter,ENST00000449981,;	1737	134	196	SUCCESS
USP49	25862	.	GRCh37	6	41773689	41773689	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	30	0	ENST00000373009.3:c.1033A>C	p.Ile345Leu	p.I345L	ENST00000373009		345	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4861.1	1033	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGAGCT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF422,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000362097	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000373006	Transcript	.	.	ENSG00000164663	20078	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	deleterious(0.02)	.	UBP49_HUMAN	USP49	HGNC	A6PVU2_HUMAN	.	UPI00000738AB	SNV	USP49,missense_variant,p.Ile345Leu,ENST00000373009,;USP49,missense_variant,p.Ile345Leu,ENST00000373006,;USP49,missense_variant,p.Ile345Leu,ENST00000394253,;USP49,missense_variant,p.Ile345Leu,ENST00000297229,;USP49,missense_variant,p.Ile345Leu,ENST00000373010,;USP49,downstream_gene_variant,,ENST00000437061,;USP49,downstream_gene_variant,,ENST00000423567,;USP49,upstream_gene_variant,,ENST00000448078,;	1255	30	90	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42978962	42978962	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	25	89	0	ENST00000485511.1:c.1747A>C	p.Lys583Gln	p.K583Q	ENST00000485511	NM_001270476.1	583	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS4878.1	1747	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCAAGGCA	NONE	.	.	hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257	.	.	ENSP00000417963	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.058)	.	tolerated_low_confidence(0.09)	.	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,missense_variant,p.Lys477Gln,ENST00000461010,;PPP2R5D,missense_variant,p.Lys583Gln,ENST00000485511,;PPP2R5D,missense_variant,p.Lys551Gln,ENST00000394110,;PPP2R5D,missense_variant,p.Lys485Gln,ENST00000470467,;PPP2R5D,missense_variant,p.Lys575Gln,ENST00000472118,;PPP2R5D,downstream_gene_variant,,ENST00000486843,;KLHDC3,upstream_gene_variant,,ENST00000326974,;MEA1,downstream_gene_variant,,ENST00000244711,;KLHDC3,upstream_gene_variant,,ENST00000244670,;PPP2R5D,3_prime_UTR_variant,,ENST00000230402,;PPP2R5D,downstream_gene_variant,,ENST00000467447,;PPP2R5D,downstream_gene_variant,,ENST00000482315,;	1926	89	218	SUCCESS
CRIP3	401262	.	GRCh37	6	43274043	43274043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	20	51	0	ENST00000274990.4:c.409G>A	p.Val137Met	p.V137M	ENST00000274990		137	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS4894.2	409	RADIA|MUTECT|MUSE	.	CATCACCTTCT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.548)	.	deleterious(0.01)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Val9Met,ENST00000451294,;CRIP3,missense_variant,p.Val61Met,ENST00000416431,;CRIP3,missense_variant,p.Val137Met,ENST00000274990,;CRIP3,missense_variant,p.Val137Met,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	414	51	159	SUCCESS
CRIP3	401262	.	GRCh37	6	43274045	43274045	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755721027	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	20	52	0	ENST00000274990.4:c.407A>T	p.Lys136Met	p.K136M	ENST00000274990		136	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS4894.2	407	RADIA|MUTECT|MUSE	.	TCACCTTCTCA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	rs755721027	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.785)	.	deleterious(0)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Lys8Met,ENST00000451294,;CRIP3,missense_variant,p.Lys60Met,ENST00000416431,;CRIP3,missense_variant,p.Lys136Met,ENST00000274990,;CRIP3,missense_variant,p.Lys136Met,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	412	52	158	SUCCESS
CRIP3	401262	.	GRCh37	6	43274046	43274046	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	20	54	0	ENST00000274990.4:c.406A>G	p.Lys136Glu	p.K136E	ENST00000274990		136	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4894.2	406	RADIA|MUSE	.	CACCTTCTCAG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.226)	.	deleterious(0.03)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Lys8Glu,ENST00000451294,;CRIP3,missense_variant,p.Lys60Glu,ENST00000416431,;CRIP3,missense_variant,p.Lys136Glu,ENST00000274990,;CRIP3,missense_variant,p.Lys136Glu,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	411	54	164	SUCCESS
CLIC5	53405	.	GRCh37	6	45922898	45922898	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	19	62	0	ENST00000185206.6:c.624C>T	p.Phe208=	p.F208=	ENST00000185206	NM_001114086.1	208	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS47438.1	624	MUTECT|MUSE|VARSCANS	.	ACATTGAACAC	NONE	.	.	hmmpanther:PTHR11260:SF152,hmmpanther:PTHR11260,TIGRFAM_domain:TIGR00862,Pfam_domain:PF13417,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR01263	.	.	ENSP00000185206	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000185206	Transcript	.	.	ENSG00000112782	13517	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLIC5_HUMAN	CLIC5	HGNC	.	.	UPI000013C5ED	SNV	CLIC5,synonymous_variant,p.%3D,ENST00000185206,;CLIC5,synonymous_variant,p.%3D,ENST00000339561,;CLIC5,synonymous_variant,p.%3D,ENST00000544153,;	777	62	177	SUCCESS
PLA2G7	7941	.	GRCh37	6	46672428	46672428	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	24	257	1	ENST00000274793.7:c.1195C>G	p.His399Asp	p.H399D	ENST00000274793	NM_005084.3	399	Cat/Gat	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS4917.1	1195	MUTECT|MUSE|VARSCANS	.	TTTATGAAGTC	NONE	.	.	hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF9,Gene3D:3.40.50.1820,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169,Superfamily_domains:SSF53474	.	.	ENSP00000274793	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000274793	Transcript	.	.	ENSG00000146070	9040	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.38)	.	PAFA_HUMAN	PLA2G7	HGNC	.	.	UPI000002FED1	SNV	PLA2G7,missense_variant,p.His399Asp,ENST00000537365,;PLA2G7,missense_variant,p.His399Asp,ENST00000274793,;TDRD6,downstream_gene_variant,,ENST00000316081,;PLA2G7,downstream_gene_variant,,ENST00000538237,;TDRD6,downstream_gene_variant,,ENST00000544460,;TDRD6,downstream_gene_variant,,ENST00000450697,;	1392	258	274	SUCCESS
GPR110	0	.	GRCh37	6	46976681	46976681	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	rs753315090	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	16	147	0	ENST00000371253.2:c.2490G>C	p.Gln830His	p.Q830H	ENST00000371253	NM_153840.2	830	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS34471.1	2490	MUTECT|MUSE	.	CTCACCTGGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000360299	.	11/15	.	.	.	.	.	.	.	.	rs753315090	11/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Gln633His,ENST00000283297,;GPR110,missense_variant,p.Gln830His,ENST00000371253,;GPR110,splice_region_variant,,ENST00000449332,;GPR110,splice_region_variant,,ENST00000419892,;GPR110,downstream_gene_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000475745,;	2706	147	205	SUCCESS
PGK2	5232	.	GRCh37	6	49753721	49753721	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1206634317	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	7	116	0	ENST00000304801.3:c.1180A>T	p.Thr394Ser	p.T394S	ENST00000304801	NM_138733.4	394	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4930.1	1180	MUTECT|MUSE	.	TCCAGTGCTGA	BUFFER|p.G396G|c.1188C>T|3	.	.	HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1270,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748,Prints_domain:PR00477	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.815)	.	deleterious(0.01)	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,missense_variant,p.Thr394Ser,ENST00000304801,;	1333	116	173	SUCCESS
IL17F	112744	.	GRCh37	6	52101936	52101936	+	synonymous_variant	Silent	SNP	C	C	T	rs781668456	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	50	0	ENST00000336123.4:c.285G>A	p.Ser95=	p.S95=	ENST00000336123	NM_052872.3	95	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4938.1	285	MUTECT|MUSE	.	ACTTCCGAGGG	NONE	byFrequency	.	Superfamily_domains:SSF57501,Pfam_domain:PF06083,Gene3D:2.10.90.10,hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF8	.	.	ENSP00000337432	.	3/3	.	.	.	.	.	.	.	.	rs781668456	3/3	PASS	ENST00000336123	Transcript	.	.	ENSG00000112116	16404	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL17F_HUMAN	IL17F	HGNC	.	.	UPI0000038A0C	SNV	IL17F,synonymous_variant,p.%3D,ENST00000336123,;IL17F,non_coding_transcript_exon_variant,,ENST00000478427,;	393	50	87	SUCCESS
DST	667	.	GRCh37	6	56515930	56515930	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	376	13	239	0	ENST00000312431.6:c.694G>A	p.Asp232Asn	p.D232N	ENST00000312431		232	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	.	.	694	MUTECT|MUSE	.	CTCACCTTCAG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000359824	.	7/93	.	.	.	.	.	.	.	.	.	7/93	PASS	ENST00000370788	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	.	.	.	DST	HGNC	Q8WXY3_HUMAN,E7ESK0_HUMAN,E7ERU0_HUMAN	.	UPI0001E8F796	SNV	DST,missense_variant,p.Asp232Asn,ENST00000370788,;DST,missense_variant,p.Asp272Asn,ENST00000520645,;DST,missense_variant,p.Asp410Asn,ENST00000449297,;DST,missense_variant,p.Asp410Asn,ENST00000370754,;DST,missense_variant,p.Asp232Asn,ENST00000361203,;DST,missense_variant,p.Asp232Asn,ENST00000370769,;DST,missense_variant,p.Asp232Asn,ENST00000312431,;DST,missense_variant,p.Asp232Asn,ENST00000421834,;DST,splice_region_variant,,ENST00000521104,;DST,splice_region_variant,,ENST00000523967,;	1214	239	389	SUCCESS
DST	667	.	GRCh37	6	56535577	56535577	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1199173298	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	49	0	ENST00000312431.6:c.443C>T	p.Ser148Leu	p.S148L	ENST00000312431		148	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	.	.	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGACTCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000359824	.	6/93	.	.	.	.	.	.	.	.	.	6/93	PASS	ENST00000370788	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	.	.	.	DST	HGNC	Q8WXY3_HUMAN,E7ESK0_HUMAN,E7ERU0_HUMAN	.	UPI0001E8F796	SNV	DST,missense_variant,p.Ser148Leu,ENST00000370788,;DST,missense_variant,p.Ser188Leu,ENST00000520645,;DST,missense_variant,p.Ser99Leu,ENST00000522538,;DST,missense_variant,p.Ser326Leu,ENST00000449297,;DST,missense_variant,p.Ser326Leu,ENST00000370754,;DST,missense_variant,p.Ser148Leu,ENST00000361203,;DST,missense_variant,p.Ser148Leu,ENST00000370769,;DST,missense_variant,p.Ser148Leu,ENST00000312431,;DST,missense_variant,p.Ser141Leu,ENST00000523817,;DST,missense_variant,p.Ser148Leu,ENST00000421834,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000521821,;	963	49	81	SUCCESS
COL9A1	1297	.	GRCh37	6	70993489	70993489	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	21	102	0	ENST00000357250.6:c.731C>A	p.Pro244His	p.P244H	ENST00000357250	NM_001851.4	244	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4971.1	731	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGGGTCA	NONE	.	.	hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000349790	.	6/38	.	.	.	.	.	.	.	.	.	6/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Pro244His,ENST00000370496,;COL9A1,missense_variant,p.Pro244His,ENST00000357250,;COL9A1,upstream_gene_variant,,ENST00000370499,;COL9A1,upstream_gene_variant,,ENST00000320755,;COL9A1,upstream_gene_variant,,ENST00000489611,;	890	103	152	SUCCESS
FILIP1	27145	.	GRCh37	6	76024218	76024218	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	33	374	0	ENST00000237172.7:c.1330A>T	p.Lys444Ter	p.K444*	ENST00000237172	NM_015687.2	444	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4984.1	1330	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTGCTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,stop_gained,p.Lys345Ter,ENST00000370020,;FILIP1,stop_gained,p.Lys444Ter,ENST00000393004,;FILIP1,stop_gained,p.Lys444Ter,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	1661	374	214	SUCCESS
ME1	4199	.	GRCh37	6	84117526	84117526	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	143	0	ENST00000369705.3:c.173T>A	p.Val58Glu	p.V58E	ENST00000369705	NM_002395.4	58	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS34492.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTACTCTA	NONE	.	.	hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Gene3D:3.40.50.10380,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF53223	.	.	ENSP00000358719	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000369705	Transcript	.	.	ENSG00000065833	6983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	deleterious(0)	.	MAOX_HUMAN	ME1	HGNC	F5H4W0_HUMAN,B4DZ70_HUMAN	.	UPI000000127E	SNV	ME1,missense_variant,p.Val58Glu,ENST00000369705,;ME1,intron_variant,,ENST00000541327,;ME1,intron_variant,,ENST00000543031,;	290	143	78	SUCCESS
GPR63	81491	.	GRCh37	6	97246970	97246970	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	114	0	ENST00000229955.3:c.638T>C	p.Leu213Ser	p.L213S	ENST00000229955	NM_030784.3	213	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS5036.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTAAAGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.55)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Leu213Ser,ENST00000417980,;GPR63,missense_variant,p.Leu213Ser,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	984	114	81	SUCCESS
FBXL4	26235	.	GRCh37	6	99322272	99322272	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766646887	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	11	203	0	ENST00000229971.1:c.1748C>A	p.Ser583Tyr	p.S583Y	ENST00000229971	NM_012160.4	583	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5041.1	1748	MUTECT|MUSE	.	TACAAGATTCC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00367,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	10/10	.	.	.	.	.	.	.	.	rs766646887	10/10	PASS	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.309)	.	deleterious(0.01)	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,missense_variant,p.Ser583Tyr,ENST00000229971,;FBXL4,missense_variant,p.Ser583Tyr,ENST00000369244,;	2177	203	150	SUCCESS
GNB2	2783	.	GRCh37	7	100274386	100274386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	44	0	ENST00000303210.4:c.167C>A	p.Ala56Glu	p.A56E	ENST00000303210	NM_005273.3	56	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS5703.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCAAAGA	NONE	.	.	Prints_domain:PR00319,Superfamily_domains:SSF50978,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR19850:SF27,hmmpanther:PTHR19850,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000305260	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000303210	Transcript	.	.	ENSG00000172354	4398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	deleterious(0.01)	.	GBB2_HUMAN	GNB2	HGNC	Q6FHM2_HUMAN,E7EP32_HUMAN,C9JZN1_HUMAN,C9JXA5_HUMAN,C9JIS1_HUMAN,B3KPU1_HUMAN	.	UPI0000000934	SNV	GNB2,missense_variant,p.Ala56Glu,ENST00000393926,;GNB2,missense_variant,p.Ala56Glu,ENST00000431068,;GNB2,missense_variant,p.Ala56Glu,ENST00000451587,;GNB2,missense_variant,p.Ala56Glu,ENST00000303210,;GNB2,missense_variant,p.Ala56Glu,ENST00000393924,;GNB2,missense_variant,p.Ala12Glu,ENST00000424361,;GNB2,missense_variant,p.Ala56Glu,ENST00000412215,;GNB2,missense_variant,p.Ala12Glu,ENST00000436220,;GNB2,intron_variant,,ENST00000419828,;GNB2,intron_variant,,ENST00000427895,;GIGYF1,downstream_gene_variant,,ENST00000275732,;GNB2,non_coding_transcript_exon_variant,,ENST00000480159,;GNB2,upstream_gene_variant,,ENST00000470354,;GNB2,upstream_gene_variant,,ENST00000469287,;	649	44	71	SUCCESS
SLC12A9	56996	.	GRCh37	7	100452001	100452001	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	333	16	437	0	ENST00000354161.3:c.181+1G>T		p.X61_splice	ENST00000354161	NM_020246.3	61		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5707.1	.	MUTECT|MUSE	.	GATTGGTGAGT	NONE	.	.	.	.	.	ENSP00000275730	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354161	Transcript	.	.	ENSG00000146828	17435	.	.	HIGH	2/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S12A9_HUMAN	SLC12A9	HGNC	D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN	.	UPI000006CD28	SNV	SLC12A9,splice_donor_variant,,ENST00000354161,;SLC12A9,splice_donor_variant,,ENST00000416675,;SLC12A9,splice_donor_variant,,ENST00000275729,;SLC12A9,splice_donor_variant,,ENST00000415287,;SLC12A9,splice_donor_variant,,ENST00000434158,;SLC12A9,splice_donor_variant,,ENST00000428758,;SLC12A9,splice_donor_variant,,ENST00000540482,;SLC12A9,intron_variant,,ENST00000418037,;RP11-126L15.4,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,splice_donor_variant,,ENST00000462106,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,upstream_gene_variant,,ENST00000467972,;SLC12A9,upstream_gene_variant,,ENST00000475687,;SLC12A9,upstream_gene_variant,,ENST00000497958,;	.	437	350	SUCCESS
ARMC10	83787	.	GRCh37	7	102738867	102738867	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1168473664	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	780	43	593	1	ENST00000323716.3:c.899A>G	p.Gln300Arg	p.Q300R	ENST00000323716	NM_031905.4	300	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS5728.1	899	MUTECT|MUSE	.	TGTGCAGCCTA	NONE	.	.	hmmpanther:PTHR15712:SF19,hmmpanther:PTHR15712,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	.	.	ENSP00000319412	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000323716	Transcript	.	.	ENSG00000170632	21706	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated(0.21)	.	ARM10_HUMAN	ARMC10	HGNC	.	.	UPI0000039E55	SNV	ARMC10,missense_variant,p.Gln206Arg,ENST00000454559,;ARMC10,missense_variant,p.Gln300Arg,ENST00000323716,;ARMC10,missense_variant,p.Gln228Arg,ENST00000434153,;ARMC10,missense_variant,p.Gln241Arg,ENST00000428183,;ARMC10,missense_variant,p.Gln142Arg,ENST00000431642,;ARMC10,missense_variant,p.Gln265Arg,ENST00000441711,;ARMC10,missense_variant,p.Gln182Arg,ENST00000541300,;ARMC10,missense_variant,p.Gln241Arg,ENST00000425331,;NAPEPLD,downstream_gene_variant,,ENST00000427257,;NAPEPLD,downstream_gene_variant,,ENST00000341533,;NAPEPLD,downstream_gene_variant,,ENST00000455523,;NAPEPLD,downstream_gene_variant,,ENST00000417955,;NAPEPLD,downstream_gene_variant,,ENST00000465647,;ARMC10,3_prime_UTR_variant,,ENST00000306450,;ARMC10,3_prime_UTR_variant,,ENST00000323735,;ARMC10,non_coding_transcript_exon_variant,,ENST00000479145,;NAPEPLD,downstream_gene_variant,,ENST00000422589,;NAPEPLD,downstream_gene_variant,,ENST00000414118,;NAPEPLD,downstream_gene_variant,,ENST00000420631,;	1291	594	823	SUCCESS
RELN	5649	.	GRCh37	7	103276844	103276844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1439046809	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	9	142	0	ENST00000428762.1:c.2141G>A	p.Ser714Asn	p.S714N	ENST00000428762	NM_005045.3	714	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS47680.1	2141	MUTECT|MUSE	.	CAAAGCTTTCA	NONE	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	18/65	.	.	.	.	.	.	.	.	.	18/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.696)	.	tolerated(0.44)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Ser714Asn,ENST00000424685,;RELN,missense_variant,p.Ser714Asn,ENST00000428762,;RELN,missense_variant,p.Ser714Asn,ENST00000343529,;	2301	142	201	SUCCESS
GPR22	2845	.	GRCh37	7	107115448	107115448	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1446454467	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	546	23	387	0	ENST00000304402.4:c.943T>C	p.Ser315Pro	p.S315P	ENST00000304402	NM_005295.2	315	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS5744.1	943	MUTECT|MUSE	.	GGATGTCTTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF1,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304402	Transcript	.	.	ENSG00000172209	4477	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.913)	.	deleterious(0.01)	.	GPR22_HUMAN	GPR22	HGNC	Q59G39_HUMAN,A4D0R8_HUMAN	.	UPI000013E975	SNV	GPR22,missense_variant,p.Ser315Pro,ENST00000304402,;COG5,intron_variant,,ENST00000347053,;COG5,intron_variant,,ENST00000393603,;COG5,intron_variant,,ENST00000297135,;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;	2286	387	569	SUCCESS
PNPLA8	50640	.	GRCh37	7	108155899	108155899	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768754573	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	8	117	0	ENST00000257694.8:c.37C>T	p.Leu13Phe	p.L13F	ENST00000257694	NM_001256007.1	13	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS34733.1	37	MUTECT|MUSE	.	AAGGAGGTAAA	NONE	.	.	hmmpanther:PTHR24185	.	.	ENSP00000410804	.	4/12	.	.	.	.	.	.	.	.	rs768754573	4/12	PASS	ENST00000422087	Transcript	.	.	ENSG00000135241	28900	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.53)	.	PLPL8_HUMAN	PNPLA8	HGNC	C9JAX4_HUMAN,C9J9W9_HUMAN	.	UPI0000073D34	SNV	PNPLA8,missense_variant,p.Leu13Phe,ENST00000415498,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000257694,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000422087,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000427008,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000388728,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000426128,;PNPLA8,missense_variant,p.Leu13Phe,ENST00000436062,;PNPLA8,splice_region_variant,,ENST00000453144,;PNPLA8,splice_region_variant,,ENST00000453085,;PNPLA8,intron_variant,,ENST00000483879,;PNPLA8,intron_variant,,ENST00000476592,;PNPLA8,intron_variant,,ENST00000489738,;RPL7P32,downstream_gene_variant,,ENST00000457119,;	444	117	117	SUCCESS
KCND2	3751	.	GRCh37	7	119914945	119914945	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776408046	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	10	56	0	ENST00000331113.4:c.259C>A	p.Arg87Ser	p.R87S	ENST00000331113	NM_012281.2	87	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS5776.1	259	MUTECT|MUSE|VARSCANS	.	TTGACCGTGAC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF86,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000333496	.	1/6	.	.	.	.	.	.	.	.	rs776408046	1/6	PASS	ENST00000331113	Transcript	.	.	ENSG00000184408	6238	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCND2_HUMAN	KCND2	HGNC	A4D0V9_HUMAN,Q75LS7_HUMAN	.	UPI0000073D37	SNV	KCND2,missense_variant,p.Arg87Ser,ENST00000331113,;	1224	56	128	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121684477	121684477	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	168	276	0	ENST00000393386.2:c.5939A>G	p.Glu1980Gly	p.E1980G	ENST00000393386	NM_001206838.1	1980	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34740.1	5939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGAGCAAT	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000377047	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Glu1113Gly,ENST00000449182,;PTPRZ1,missense_variant,p.Glu1980Gly,ENST00000393386,;PTPRZ1,downstream_gene_variant,,ENST00000470504,;	6350	276	338	SUCCESS
CCDC136	64753	.	GRCh37	7	128449544	128449544	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	450	22	268	0	ENST00000297788.4:c.1646A>T	p.Lys549Met	p.K549M	ENST00000297788	NM_022742.4	549	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS47704.1	1646	MUTECT|MUSE	.	GGAAAAGTACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.919)	.	tolerated(0.12)	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,missense_variant,p.Lys549Met,ENST00000297788,;CCDC136,missense_variant,p.Lys426Met,ENST00000494552,;CCDC136,missense_variant,p.Lys140Met,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,non_coding_transcript_exon_variant,,ENST00000460941,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000485832,;	2013	268	472	SUCCESS
AGBL3	340351	.	GRCh37	7	134717658	134717659	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	163	15	130	0	ENST00000436302.2:c.483dup	p.Val162CysfsTer5	p.V162Cfs*5	ENST00000436302	NM_178563.3	161	cct/ccTt	0	.	.	.	.	.	T	P/PX	protein_coding	YES	CCDS47718.1	482-483	INDELOCATOR|VARSCANI	.	GCAGCCTGTGG	NONE	.	.	hmmpanther:PTHR12756:SF6,hmmpanther:PTHR12756	.	.	ENSP00000388275	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000436302	Transcript	.	.	ENSG00000146856	27981	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBPC3_HUMAN	AGBL3	HGNC	.	.	UPI000192952B	insertion	AGBL3,frameshift_variant,p.Val136CysfsTer5,ENST00000458078,;AGBL3,frameshift_variant,p.Val162CysfsTer5,ENST00000436302,;AGBL3,frameshift_variant,p.Val162CysfsTer5,ENST00000435976,;AGBL3,frameshift_variant,p.Val162CysfsTer5,ENST00000275763,;	735-736	130	178	SUCCESS
CNOT4	4850	.	GRCh37	7	135047915	135047915	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	56	113	0	ENST00000541284.1:c.1864A>G	p.Ser622Gly	p.S622G	ENST00000541284	NM_001190849.1	622	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS55165.1	1864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACTGTTTC	NONE	.	.	hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2	.	.	ENSP00000445508	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.15)	.	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	SNV	CNOT4,missense_variant,p.Ser622Gly,ENST00000541284,;CNOT4,missense_variant,p.Ser619Gly,ENST00000451834,;CNOT4,missense_variant,p.Ser548Gly,ENST00000361528,;CNOT4,missense_variant,p.Ser551Gly,ENST00000423368,;CNOT4,non_coding_transcript_exon_variant,,ENST00000473470,;	2195	113	86	SUCCESS
CLCN1	1180	.	GRCh37	7	143039472	143039472	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	9	122	0	ENST00000343257.2:c.1804A>G	p.Thr602Ala	p.T602A	ENST00000343257	NM_000083.2	602	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5881.1	1804	MUTECT|MUSE	.	AATATACCATC	NONE	.	.	Superfamily_domains:SSF54631,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	.	.	ENSP00000339867	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000343257	Transcript	.	.	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.469)	.	deleterious(0.02)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Thr602Ala,ENST00000343257,;	1891	123	192	SUCCESS
CHPF2	54480	.	GRCh37	7	150934562	150934562	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139379425	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	7	69	0	ENST00000035307.2:c.1114G>A	p.Val372Met	p.V372M	ENST00000035307	NM_019015.1	372	Gtg/Atg	0	T:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS34779.1	1114	MUTECT|MUSE	.	TTGAGGTGCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12369:SF14,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	T:0.0006	ENSP00000035307	.	4/4	.	.	.	.	.	.	.	.	rs139379425	4/4	PASS	ENST00000035307	Transcript	.	.	ENSG00000033100	29270	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.934)	.	deleterious(0.02)	.	CHPF2_HUMAN	CHPF2	HGNC	.	.	UPI000003F537	SNV	CHPF2,missense_variant,p.Val372Met,ENST00000035307,;CHPF2,missense_variant,p.Val364Met,ENST00000495645,;CHPF2,downstream_gene_variant,,ENST00000482173,;SMARCD3,downstream_gene_variant,,ENST00000262188,;SMARCD3,downstream_gene_variant,,ENST00000392811,;SMARCD3,downstream_gene_variant,,ENST00000356800,;MIR671,upstream_gene_variant,,ENST00000390183,;RP4-548D19.3,upstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,downstream_gene_variant,,ENST00000496530,;CHPF2,3_prime_UTR_variant,,ENST00000465601,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000485592,;SMARCD3,downstream_gene_variant,,ENST00000472988,;SMARCD3,downstream_gene_variant,,ENST00000472103,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000485610,;SMARCD3,downstream_gene_variant,,ENST00000472789,;	2627	69	140	SUCCESS
INSIG1	3638	.	GRCh37	7	155094019	155094019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	368	14	332	0	ENST00000340368.4:c.596G>A	p.Gly199Asp	p.G199D	ENST00000340368	NM_005542.4	199	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS5938.1	596	MUTECT|MUSE	.	TTTGGGCCTTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15301:SF11,hmmpanther:PTHR15301,Pfam_domain:PF07281	.	.	ENSP00000344741	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000340368	Transcript	.	.	ENSG00000186480	6083	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INSI1_HUMAN	INSIG1	HGNC	C9JSG8_HUMAN	.	UPI00000015DE	SNV	INSIG1,missense_variant,p.Gly47Asp,ENST00000344756,;INSIG1,missense_variant,p.Gly199Asp,ENST00000340368,;INSIG1,missense_variant,p.Gly108Asp,ENST00000476756,;INSIG1,intron_variant,,ENST00000342407,;INSIG1,downstream_gene_variant,,ENST00000425172,;AC144652.1,upstream_gene_variant,,ENST00000609974,;INSIG1,non_coding_transcript_exon_variant,,ENST00000468307,;	807	332	382	SUCCESS
MPP6	0	.	GRCh37	7	24705683	24705683	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	7	117	0	ENST00000222644.5:c.927G>C	p.Met309Ile	p.M309I	ENST00000222644		309	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS5388.1	927	MUTECT|MUSE	.	AAGATGATGTA	NONE	.	.	Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122	.	.	ENSP00000222644	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000222644	Transcript	.	.	ENSG00000105926	18167	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.28)	.	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,missense_variant,p.Met309Ile,ENST00000396475,;MPP6,missense_variant,p.Met197Ile,ENST00000409761,;MPP6,missense_variant,p.Met309Ile,ENST00000222644,;MPP6,downstream_gene_variant,,ENST00000430180,;MPP6,missense_variant,p.Met17Ile,ENST00000464384,;MPP6,downstream_gene_variant,,ENST00000472674,;	1177	117	160	SUCCESS
HECW1	23072	.	GRCh37	7	43484350	43484350	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	21	52	0	ENST00000395891.2:c.1579T>A	p.Ser527Thr	p.S527T	ENST00000395891	NM_015052.3	527	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS5469.2	1579	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTCGGTG	NONE	.	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.42)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Ser527Thr,ENST00000453890,;HECW1,missense_variant,p.Ser527Thr,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2184	52	135	SUCCESS
PKD1L1	168507	.	GRCh37	7	47876625	47876625	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	64	49	0	ENST00000289672.2:c.5837C>T	p.Pro1946Leu	p.P1946L	ENST00000289672	NM_138295.3	1946	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34633.1	5837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGGCCTG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	37/57	.	.	.	.	.	.	.	.	.	37/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Pro1946Leu,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	5888	49	134	SUCCESS
ABCA13	154664	.	GRCh37	7	48443391	48443391	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	9	89	0	ENST00000435803.1:c.11985G>T	p.Arg3995Ser	p.R3995S	ENST00000435803	NM_152701.3	3995	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47584.1	11985	RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGGACCGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	39/62	.	.	.	.	.	.	.	.	.	39/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Arg3995Ser,ENST00000435803,;ABCA13,missense_variant,p.Arg261Ser,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	12009	89	106	SUCCESS
ABCA13	154664	.	GRCh37	7	48559659	48559659	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	92	138	1	ENST00000435803.1:c.13820T>C	p.Val4607Ala	p.V4607A	ENST00000435803	NM_152701.3	4607	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS47584.1	13820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTCCTCA	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	53/62	.	.	.	.	.	.	.	.	.	53/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.684)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Val4607Ala,ENST00000435803,;ABCA13,missense_variant,p.Val128Ala,ENST00000435451,;ABCA13,missense_variant,p.Val337Ala,ENST00000544596,;ABCA13,missense_variant,p.Val380Ala,ENST00000411975,;ABCA13,missense_variant,p.Val873Ala,ENST00000453246,;	13844	139	168	SUCCESS
FSCN1	6624	.	GRCh37	7	5643546	5643546	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	55	48	0	ENST00000382361.3:c.1164C>T	p.Phe388=	p.F388=	ENST00000382361	NM_003088.3	388	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS5342.1	1164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCCGCGG	NONE	.	.	hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF8,Gene3D:2.80.10.50,PIRSF_domain:PIRSF005682,Superfamily_domains:SSF50405	.	.	ENSP00000371798	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000382361	Transcript	.	.	ENSG00000075618	11148	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSCN1_HUMAN	FSCN1	HGNC	Q96IH1_HUMAN,H7BYX5_HUMAN,C9JPH9_HUMAN,C9JFC0_HUMAN,B3KTM9_HUMAN	.	UPI000003F063	SNV	FSCN1,synonymous_variant,p.%3D,ENST00000382361,;FSCN1,synonymous_variant,p.%3D,ENST00000447103,;FSCN1,synonymous_variant,p.%3D,ENST00000444748,;FSCN1,synonymous_variant,p.%3D,ENST00000405801,;FSCN1,synonymous_variant,p.%3D,ENST00000340250,;FSCN1,non_coding_transcript_exon_variant,,ENST00000473330,;	1278	48	83	SUCCESS
GUSB	2990	.	GRCh37	7	65440043	65440043	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	60	36	0	ENST00000304895.4:c.928C>T	p.Gln310Ter	p.Q310*	ENST00000304895	NM_000181.3	310	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5530.1	928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTGTGCAG	NONE	.	.	hmmpanther:PTHR10066:SF51,hmmpanther:PTHR10066,Gene3D:2.60.40.320,Pfam_domain:PF00703,Superfamily_domains:SSF49303	.	.	ENSP00000302728	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000304895	Transcript	.	.	ENSG00000169919	4696	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BGLR_HUMAN	GUSB	HGNC	.	.	UPI000013E9E0	SNV	GUSB,stop_gained,p.Gln310Ter,ENST00000304895,;GUSB,stop_gained,p.Gln164Ter,ENST00000421103,;GUSB,intron_variant,,ENST00000345660,;GUSB,non_coding_transcript_exon_variant,,ENST00000476486,;GUSB,intron_variant,,ENST00000465785,;GUSB,intron_variant,,ENST00000475316,;GUSB,intron_variant,,ENST00000479038,;GUSB,downstream_gene_variant,,ENST00000478118,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,non_coding_transcript_exon_variant,,ENST00000466883,;GUSB,upstream_gene_variant,,ENST00000462371,;GUSB,downstream_gene_variant,,ENST00000446111,;GUSB,upstream_gene_variant,,ENST00000489482,;	1059	36	103	SUCCESS
TPST1	8460	.	GRCh37	7	65751568	65751568	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	85	0	ENST00000304842.5:c.916A>G	p.Ile306Val	p.I306V	ENST00000304842	NM_003596.3	306	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5533.1	916	MUTECT|MUSE|VARSCANS	.	GGAAGATACCG	NONE	.	.	hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF4,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000302413	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000304842	Transcript	.	.	ENSG00000169902	12020	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.071)	.	tolerated(0.09)	.	TPST1_HUMAN	TPST1	HGNC	Q75ML6_HUMAN,Q75M96_HUMAN,C9K0F3_HUMAN,C9J3I4_HUMAN	.	UPI0000000CD1	SNV	TPST1,missense_variant,p.Ile306Val,ENST00000304842,;TPST1,non_coding_transcript_exon_variant,,ENST00000480281,;	1341	85	79	SUCCESS
GRID2IP	392862	.	GRCh37	7	6590947	6590947	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs756362744	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	8	0	ENST00000457091.2:c.121G>C	p.Gly41Arg	p.G41R	ENST00000457091	NM_001145118.1	41	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS47537.1	121	MUTECT|MUSE|VARSCANS	.	TCCTCCGGCAT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000397351	.	1/22	.	.	.	.	.	.	.	.	rs756362744	1/22	PASS	ENST00000457091	Transcript	.	.	ENSG00000215045	18464	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	GRD2I_HUMAN	GRID2IP	HGNC	.	.	UPI0001722D0B	SNV	GRID2IP,missense_variant,p.Gly41Arg,ENST00000457091,;	121	8	24	SUCCESS
UPK3B	105375355	.	GRCh37	7	76142448	76142448	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	39	124	0	ENST00000257632.5:c.627-816C>A		p.*209*	ENST00000257632				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5588.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGACCAAGT	NONE	.	.	.	.	.	ENSP00000441602	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419923	Transcript	.	.	ENSG00000243566	21444	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UPK3B_HUMAN	UPK3B	HGNC	.	.	UPI00001AE7A4	SNV	UPK3B,missense_variant,p.Thr170Asn,ENST00000334348,;UPK3B,missense_variant,p.Thr170Asn,ENST00000443097,;UPK3B,intron_variant,,ENST00000419923,;UPK3B,intron_variant,,ENST00000257632,;UPK3B,intron_variant,,ENST00000448265,;UPK3B,intron_variant,,ENST00000394849,;UPK3B,non_coding_transcript_exon_variant,,ENST00000469114,;UPK3B,downstream_gene_variant,,ENST00000490360,;	.	124	186	SUCCESS
CCDC146	57639	.	GRCh37	7	76909777	76909777	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	8	133	0	ENST00000285871.4:c.1726A>G	p.Asn576Asp	p.N576D	ENST00000285871	NM_020879.2	576	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS34671.1	1726	MUTECT|MUSE	.	ACGCCAACAAT	NONE	.	.	hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	.	.	ENSP00000285871	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000285871	Transcript	.	.	ENSG00000135205	29296	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.439)	.	deleterious(0.01)	.	CC146_HUMAN	CCDC146	HGNC	Q7Z4Q3_HUMAN	.	UPI000020F44F	SNV	CCDC146,missense_variant,p.Asn576Asp,ENST00000285871,;CCDC146,missense_variant,p.Asn290Asp,ENST00000431197,;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,upstream_gene_variant,,ENST00000464021,;CCDC146,upstream_gene_variant,,ENST00000461259,;CCDC146,upstream_gene_variant,,ENST00000474733,;	1853	133	192	SUCCESS
PHTF2	57157	.	GRCh37	7	77569480	77569480	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	302	35	375	0	ENST00000248550.7:c.1601C>A	p.Ser534Ter	p.S534*	ENST00000248550		534	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS47621.1	1499	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCAGAAC	NONE	.	.	hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,stop_gained,p.Ser500Ter,ENST00000416283,;PHTF2,stop_gained,p.Ser500Ter,ENST00000422959,;PHTF2,stop_gained,p.Ser534Ter,ENST00000248550,;PHTF2,stop_gained,p.Ser496Ter,ENST00000307305,;PHTF2,stop_gained,p.Ser496Ter,ENST00000275575,;PHTF2,stop_gained,p.Ser496Ter,ENST00000424760,;PHTF2,upstream_gene_variant,,ENST00000470215,;PHTF2,downstream_gene_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;	1625	375	337	SUCCESS
HGF	3082	.	GRCh37	7	81339556	81339556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	327	10	141	0	ENST00000222390.5:c.1448C>A	p.Pro483His	p.P483H	ENST00000222390	NM_000601.4	483	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS5597.1	1448	MUTECT|MUSE	.	TTACGGGATCT	NONE	.	.	hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152	.	.	ENSP00000222390	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.827)	.	deleterious(0.03)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Pro478His,ENST00000457544,;HGF,missense_variant,p.Pro483His,ENST00000222390,;	1675	141	337	SUCCESS
PCLO	27445	.	GRCh37	7	82585390	82585390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	48	191	0	ENST00000333891.9:c.4879C>T	p.His1627Tyr	p.H1627Y	ENST00000333891	NM_033026.5	1627	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS47630.1	4879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGACGTC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.His1627Tyr,ENST00000333891,;PCLO,missense_variant,p.His1627Tyr,ENST00000423517,;	5217	192	181	SUCCESS
SEMA3A	10371	.	GRCh37	7	83590805	83590805	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs318240753	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	342	19	451	0	ENST00000265362.4:c.2198G>T	p.Arg733Leu	p.R733L	ENST00000265362	NM_006080.2	733	cGt/cTt	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS5599.1	2198	MUTECT|MUSE	not_provided	GCCGACGTTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036	.	T:0.0001	ENSP00000265362	.	17/17	.	.	.	.	.	.	.	.	rs318240753	17/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	22927827	possibly_damaging(0.604)	.	tolerated(0.07)	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Arg733Leu,ENST00000265362,;SEMA3A,missense_variant,p.Arg733Leu,ENST00000436949,;	2513	451	361	SUCCESS
PEG10	23089	.	GRCh37	7	94293700	94293700	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376581536	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	6	37	0	ENST00000482108.1:c.832C>T	p.Arg278Cys	p.R278C	ENST00000482108	NM_001172437.1	278	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS55126.1	832	MUTECT|MUSE	.	GTGCCCGCATG	NONE	byCluster	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0	.	T:0.0001	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	rs376581536	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.724)	.	deleterious(0)	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,missense_variant,p.Arg278Cys,ENST00000482108,;PEG10,missense_variant,p.Arg278Cys,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	1311	37	102	SUCCESS
MCM7	4176	.	GRCh37	7	99693701	99693701	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775346451	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	10	64	0	ENST00000303887.5:c.1291G>T	p.Gly431Cys	p.G431C	ENST00000303887	NM_001278595.1	431	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5683.1	1291	MUTECT|MUSE	.	CCCACCCTCTA	NONE	byFrequency	.	PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000307288	.	11/15	.	.	.	.	.	.	.	.	rs775346451	11/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,missense_variant,p.Gly255Cys,ENST00000354230,;MCM7,missense_variant,p.Gly431Cys,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;MCM7,downstream_gene_variant,,ENST00000425308,;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000303904,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000467516,;COPS6,downstream_gene_variant,,ENST00000474823,;MCM7,downstream_gene_variant,,ENST00000465738,;COPS6,downstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000463722,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000468499,;MCM7,downstream_gene_variant,,ENST00000465688,;COPS6,downstream_gene_variant,,ENST00000483891,;	1937	64	150	SUCCESS
MCM7	4176	.	GRCh37	7	99697309	99697309	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	26	0	ENST00000303887.5:c.179C>G	p.Pro60Arg	p.P60R	ENST00000303887	NM_001278595.1	60	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS5683.1	179	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGGGGTCA	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF14551,Gene3D:1ltlA01,Superfamily_domains:SSF50249	.	.	ENSP00000307288	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.211)	.	tolerated(0.37)	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,missense_variant,p.Pro60Arg,ENST00000303887,;MCM7,missense_variant,p.Pro60Arg,ENST00000343023,;MCM7,5_prime_UTR_variant,,ENST00000425308,;MCM7,5_prime_UTR_variant,,ENST00000354230,;AP4M1,upstream_gene_variant,,ENST00000422582,;AP4M1,upstream_gene_variant,,ENST00000359593,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000421755,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000439416,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,upstream_gene_variant,,ENST00000478501,;MCM7,missense_variant,p.Pro18Arg,ENST00000491245,;MCM7,non_coding_transcript_exon_variant,,ENST00000467516,;MCM7,non_coding_transcript_exon_variant,,ENST00000465738,;MCM7,non_coding_transcript_exon_variant,,ENST00000463722,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000465688,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,upstream_gene_variant,,ENST00000493352,;AP4M1,upstream_gene_variant,,ENST00000445208,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,upstream_gene_variant,,ENST00000477372,;AP4M1,upstream_gene_variant,,ENST00000394061,;AP4M1,upstream_gene_variant,,ENST00000479916,;	825	26	79	SUCCESS
PVRIG	79037	.	GRCh37	7	99818613	99818613	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	12	70	0	ENST00000317271.2:c.720C>A	p.Cys240Ter	p.C240*	ENST00000317271	NM_024070.3	240	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS5690.1	720	MUTECT|MUSE|VARSCANS	.	AGCTGCCGCCC	NONE	.	.	.	.	.	ENSP00000316675	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000317271	Transcript	.	.	ENSG00000213413	32190	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PVRIG_HUMAN	PVRIG	HGNC	.	.	UPI000013FFF0	SNV	PVRIG,stop_gained,p.Cys240Ter,ENST00000317271,;GATS,intron_variant,,ENST00000436886,;AC005071.1,upstream_gene_variant,,ENST00000410550,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000435519,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000414739,;PVRIG,downstream_gene_variant,,ENST00000471803,;GATS,downstream_gene_variant,,ENST00000538588,;STAG3,3_prime_UTR_variant,,ENST00000451963,;GATS,downstream_gene_variant,,ENST00000292369,;	1083	70	145	SUCCESS
UBR5	51366	.	GRCh37	8	103293516	103293516	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	468	28	375	0	ENST00000520539.1:c.5927+1G>A		p.X1976_splice	ENST00000520539	NM_015902.5	1976		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34933.1	.	MUTECT|MUSE	.	GGATACCTTTT	NONE	.	.	.	.	.	ENSP00000429084	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	HIGH	41/58	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,splice_donor_variant,,ENST00000520539,;UBR5,splice_donor_variant,,ENST00000220959,;UBR5,splice_donor_variant,,ENST00000521922,;UBR5,upstream_gene_variant,,ENST00000521566,;	.	375	496	SUCCESS
RP1L1	94137	.	GRCh37	8	10467732	10467732	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	154	0	ENST00000382483.3:c.3876A>T	p.Leu1292Phe	p.L1292F	ENST00000382483	NM_178857.5	1292	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS43708.1	3876	MUTECT|VARSCANS	.	TCAGCTAACTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	.	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.061)	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Leu1292Phe,ENST00000382483,;	4100	155	55	SUCCESS
RP1L1	94137	.	GRCh37	8	10470139	10470139	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs578108515	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	37	0	ENST00000382483.3:c.1469G>T	p.Gly490Val	p.G490V	ENST00000382483	NM_178857.5	490	gGg/gTg	0	.	T:0	.	T:0	.	A	G/V	protein_coding	YES	CCDS43708.1	1469	MUTECT|MUSE|VARSCANS	.	CAGCCCCTATC	NONE	by1000G	.	hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	T:0	.	ENSP00000371923	T:0	4/4	.	.	.	.	.	.	.	.	rs578108515,COSM355303	4/4	PASS	ENST00000382483	Transcript	1	T:0.0002	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.791)	T:0.001	.	0,1	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Gly490Val,ENST00000382483,;	1693	37	27	SUCCESS
DCSTAMP	81501	.	GRCh37	8	105360964	105360964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755037579	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	82	318	0	ENST00000297581.2:c.184G>A	p.Ala62Thr	p.A62T	ENST00000297581	NM_030788.3	62	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6301.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCTGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	.	.	ENSP00000297581	.	2/4	.	.	.	.	.	.	.	.	rs755037579,COSM3431992	2/4	PASS	ENST00000297581	Transcript	.	.	ENSG00000164935	18549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.57)	0,1	DCSTP_HUMAN	DCSTAMP	HGNC	.	.	UPI000003BCB5	SNV	DCSTAMP,missense_variant,p.Ala62Thr,ENST00000297581,;DCSTAMP,missense_variant,p.Ala62Thr,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000517364,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	233	319	282	SUCCESS
DCSTAMP	81501	.	GRCh37	8	105361088	105361088	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1255198244	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	298	19	198	0	ENST00000297581.2:c.308C>A	p.Thr103Lys	p.T103K	ENST00000297581	NM_030788.3	103	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS6301.1	308	MUTECT|MUSE	.	TGGCACAGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	.	.	ENSP00000297581	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297581	Transcript	.	.	ENSG00000164935	18549	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	DCSTP_HUMAN	DCSTAMP	HGNC	.	.	UPI000003BCB5	SNV	DCSTAMP,missense_variant,p.Thr103Lys,ENST00000297581,;DCSTAMP,missense_variant,p.Thr103Lys,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	357	198	318	SUCCESS
GSDMC	56169	.	GRCh37	8	130777987	130777987	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	7	113	0	ENST00000276708.4:c.457G>C	p.Asp153His	p.D153H	ENST00000276708	NM_031415.2	153	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6360.1	457	MUTECT|MUSE	.	GTTGTCCCCTC	NONE	.	.	hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17,Pfam_domain:PF04598	.	.	ENSP00000276708	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000276708	Transcript	.	.	ENSG00000147697	7151	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.305)	.	tolerated(0.15)	.	GSDMC_HUMAN	GSDMC	HGNC	.	.	UPI0000071445	SNV	GSDMC,missense_variant,p.Asp153His,ENST00000276708,;	1339	113	182	SUCCESS
ASAP1	50807	.	GRCh37	8	131164981	131164981	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	268	10	119	0	ENST00000518721.1:c.1080+1G>A		p.X360_splice	ENST00000518721	NM_001247996.1	360		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6362.1	.	MUTECT|MUSE	.	ACTTACTGTGG	NONE	.	.	.	.	.	ENSP00000350297	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	HIGH	12/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,splice_donor_variant,,ENST00000518721,;ASAP1,splice_donor_variant,,ENST00000524124,;ASAP1,splice_donor_variant,,ENST00000357668,;ASAP1,downstream_gene_variant,,ENST00000524367,;ASAP1,splice_donor_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000524018,;	.	119	278	SUCCESS
OC90	729330	.	GRCh37	8	133053841	133053841	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372434452	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	378	17	150	1	ENST00000254627.3:c.275G>T	p.Arg92Leu	p.R92L	ENST00000254627	NM_001080399.2	92	cGa/cTa	0	T:0.0003	.	.	.	.	A	R/L	protein_coding	YES	CCDS47919.1	275	MUTECT|MUSE	.	AGTCTCGGGGG	CODON|p.R288Q|c.863G>A|3,CODON|p.R98Q|c.293G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11716:SF1,hmmpanther:PTHR11716,Pfam_domain:PF00068,Gene3D:1.20.90.10,SMART_domains:SM00085,Superfamily_domains:SSF48619	.	T:0	ENSP00000473802	.	5/14	.	.	.	.	.	.	.	.	rs372434452,COSM3374779,COSM3374778	5/14	PASS	ENST00000603859	Transcript	.	.	ENSG00000258417	8100	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	.	OC90	Uniprot_gn	.	.	UPI000192B908	SNV	OC90,missense_variant,p.Arg288Leu,ENST00000262283,;OC90,missense_variant,p.Arg92Leu,ENST00000603859,;OC90,missense_variant,p.Arg92Leu,ENST00000254627,;OC90,missense_variant,p.Arg92Leu,ENST00000443356,;	362	151	395	SUCCESS
KCNQ3	3786	.	GRCh37	8	133153576	133153576	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	94	0	ENST00000388996.4:c.1265A>T	p.Gln422Leu	p.Q422L	ENST00000388996	NM_004519.3	422	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34943.1	1265	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTTGGCTA	NONE	.	.	hmmpanther:PTHR11537:SF5,hmmpanther:PTHR11537	.	.	ENSP00000373648	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.05)	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,missense_variant,p.Gln302Leu,ENST00000521134,;KCNQ3,missense_variant,p.Gln422Leu,ENST00000388996,;KCNQ3,missense_variant,p.Gln422Leu,ENST00000519445,;KCNQ3,splice_region_variant,,ENST00000519589,;	1686	94	121	SUCCESS
TSTA3	0	.	GRCh37	8	144698895	144698895	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	18	93	0	ENST00000425753.2:c.-11-2A>G		p.X4_splice	ENST00000425753	NM_003313.3	4		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6408.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGTAAT	NONE	.	.	.	.	.	ENSP00000398803	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425753	Transcript	.	.	ENSG00000104522	12390	.	.	HIGH	1/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FCL_HUMAN	TSTA3	HGNC	E9PP14_HUMAN,E9PLH9_HUMAN,E9PKL9_HUMAN	.	UPI000012A5A5	SNV	TSTA3,splice_acceptor_variant,,ENST00000529048,;TSTA3,splice_acceptor_variant,,ENST00000425753,;TSTA3,splice_acceptor_variant,,ENST00000529064,;TSTA3,splice_acceptor_variant,,ENST00000526290,;TSTA3,splice_acceptor_variant,,ENST00000533817,;TSTA3,upstream_gene_variant,,ENST00000524719,;TSTA3,upstream_gene_variant,,ENST00000527006,;TSTA3,splice_acceptor_variant,,ENST00000531006,;TSTA3,splice_acceptor_variant,,ENST00000527549,;TSTA3,splice_acceptor_variant,,ENST00000530474,;TSTA3,splice_acceptor_variant,,ENST00000532308,;TSTA3,splice_acceptor_variant,,ENST00000529899,;TSTA3,non_coding_transcript_exon_variant,,ENST00000525274,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531473,;TSTA3,upstream_gene_variant,,ENST00000528920,;TSTA3,upstream_gene_variant,,ENST00000527677,;	.	93	165	SUCCESS
SLC52A2	79581	.	GRCh37	8	145584640	145584640	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	26	85	0	ENST00000329994.2:c.1303del	p.Ser435AlafsTer54	p.S435Afs*54	ENST00000329994	NM_024531.4	435	Agc/gc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS6423.1	1303	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCACAGCAGA	NONE	.	.	hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF5	.	.	ENSP00000436768	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000532887	Transcript	1	.	ENSG00000185803	30224	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S52A2_HUMAN	SLC52A2	HGNC	F5GXA8_HUMAN,E9PRC3_HUMAN,E9PIX2_HUMAN	.	UPI000004470A	deletion	SLC52A2,frameshift_variant,p.Ser435AlafsTer54,ENST00000532887,;SLC52A2,frameshift_variant,p.Ser435AlafsTer?,ENST00000527078,;SLC52A2,frameshift_variant,p.Ser435AlafsTer54,ENST00000530047,;SLC52A2,frameshift_variant,p.Ser347AlafsTer54,ENST00000540505,;SLC52A2,frameshift_variant,p.Gln103ArgfsTer12,ENST00000526752,;SLC52A2,frameshift_variant,p.Ser435AlafsTer54,ENST00000402965,;SLC52A2,frameshift_variant,p.Ser435AlafsTer54,ENST00000329994,;FBXL6,upstream_gene_variant,,ENST00000331890,;SLC52A2,downstream_gene_variant,,ENST00000526338,;FBXL6,upstream_gene_variant,,ENST00000455319,;SLC52A2,downstream_gene_variant,,ENST00000524541,;SLC52A2,downstream_gene_variant,,ENST00000534725,;SLC52A2,downstream_gene_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000530687,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000526891,;SLC52A2,downstream_gene_variant,,ENST00000526779,;SLC52A2,downstream_gene_variant,,ENST00000533662,;FBXL6,upstream_gene_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000529279,;FBXL6,upstream_gene_variant,,ENST00000524492,;	1886	85	147	SUCCESS
FGF20	26281	.	GRCh37	8	16853235	16853235	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	119	0	ENST00000180166.5:c.319C>A	p.Leu107Met	p.L107M	ENST00000180166	NM_019851.2	107	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5998.1	319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGTCCCA	NONE	.	.	hmmpanther:PTHR11486:SF72,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263,Prints_domain:PR00262	.	.	ENSP00000180166	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000180166	Transcript	1	.	ENSG00000078579	3677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	.	deleterious(0.02)	.	FGF20_HUMAN	FGF20	HGNC	.	.	UPI00000374AE	SNV	FGF20,missense_variant,p.Leu107Met,ENST00000180166,;FGF20,intron_variant,,ENST00000519941,;	468	119	87	SUCCESS
MTMR7	9108	.	GRCh37	8	17198903	17198903	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1265697953	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	81	0	ENST00000180173.5:c.701A>G	p.Asp234Gly	p.D234G	ENST00000180173	NM_004686.4	234	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34851.1	701	RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGTCACTT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000180173	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000180173	Transcript	.	.	ENSG00000003987	7454	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.19)	.	MTMR7_HUMAN	MTMR7	HGNC	I0EZ69_HUMAN,B4E1E5_HUMAN,B4E1B6_HUMAN	.	UPI00004DFD27	SNV	MTMR7,missense_variant,p.Asp234Gly,ENST00000521857,;MTMR7,missense_variant,p.Asp234Gly,ENST00000180173,;MTMR7,non_coding_transcript_exon_variant,,ENST00000523571,;MTMR7,non_coding_transcript_exon_variant,,ENST00000518272,;MTMR7,non_coding_transcript_exon_variant,,ENST00000519122,;MTMR7,3_prime_UTR_variant,,ENST00000517317,;	736	81	66	SUCCESS
ADAM7	8756	.	GRCh37	8	24349491	24349491	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	76	0	ENST00000175238.6:c.1432C>T	p.Pro478Ser	p.P478S	ENST00000175238	NM_003817.3	478	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS6045.1	1432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGCCTGCC	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552,Prints_domain:PR00289	.	.	ENSP00000175238	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000175238	Transcript	.	.	ENSG00000069206	214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(1)	.	ADAM7_HUMAN	ADAM7	HGNC	.	.	UPI000013C5CC	SNV	ADAM7,missense_variant,p.Pro478Ser,ENST00000175238,;ADAM7,missense_variant,p.Pro250Ser,ENST00000520720,;ADAM7,missense_variant,p.Pro478Ser,ENST00000380789,;RP11-561E1.1,non_coding_transcript_exon_variant,,ENST00000519364,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	1515	76	69	SUCCESS
CDCA2	157313	.	GRCh37	8	25360887	25360887	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	23	47	0	ENST00000330560.3:c.1672-2A>T		p.X558_splice	ENST00000330560	NM_152562.2	558		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6049.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCAGGTTT	NONE	.	.	.	.	.	ENSP00000328228	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330560	Transcript	.	.	ENSG00000184661	14623	.	.	HIGH	13/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDCA2_HUMAN	CDCA2	HGNC	.	.	UPI000013DF9A	SNV	CDCA2,splice_acceptor_variant,,ENST00000380665,;CDCA2,splice_acceptor_variant,,ENST00000330560,;CDCA2,splice_acceptor_variant,,ENST00000521098,;	.	47	36	SUCCESS
PPP2CB	5516	.	GRCh37	8	30643819	30643819	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	39	0	ENST00000221138.4:c.862C>T	p.Gln288Ter	p.Q288*	ENST00000221138	NM_001009552.1	288	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6079.1	862	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGAAGGC	NONE	.	.	hmmpanther:PTHR11668:SF216,hmmpanther:PTHR11668,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300	.	.	ENSP00000221138	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000221138	Transcript	.	.	ENSG00000104695	9300	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PP2AB_HUMAN	PPP2CB	HGNC	E5RJX4_HUMAN,E5RFI3_HUMAN	.	UPI0000000CC2	SNV	PPP2CB,stop_gained,p.Gln288Ter,ENST00000221138,;PPP2CB,intron_variant,,ENST00000518564,;PPP2CB,downstream_gene_variant,,ENST00000520334,;PPP2CB,non_coding_transcript_exon_variant,,ENST00000522113,;PPP2CB,stop_gained,p.Gln31Ter,ENST00000523023,;PPP2CB,non_coding_transcript_exon_variant,,ENST00000518532,;	1313	39	29	SUCCESS
ZMAT4	79698	.	GRCh37	8	40683185	40683185	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1273063811	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	40	0	ENST00000297737.6:c.11C>T	p.Ser4Phe	p.S4F	ENST00000297737	NM_024645.2	4	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS34885.1	11	RADIA|MUTECT|MUSE|VARSCANS	.	TATCGGAGGAC	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19	.	.	ENSP00000297737	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.459)	.	deleterious_low_confidence(0.02)	.	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,missense_variant,p.Ser4Phe,ENST00000297737,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000519406,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000315769,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000523823,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000523542,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000523188,;ZMAT4,missense_variant,p.Ser4Phe,ENST00000522623,;	158	40	72	SUCCESS
HGSNAT	138050	.	GRCh37	8	43033222	43033222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	15	251	0	ENST00000379644.4:c.857T>A	p.Val286Glu	p.V286E	ENST00000379644	NM_152419.2	286	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47852.1	857	MUTECT|MUSE	.	GTTTGTATTTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2,Pfam_domain:PF07786	.	.	ENSP00000368965	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000379644	Transcript	1	.	ENSG00000165102	26527	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	HGNAT_HUMAN	HGSNAT	HGNC	.	.	UPI000057A06E	SNV	HGSNAT,missense_variant,p.Val33Glu,ENST00000522082,;HGSNAT,missense_variant,p.Val314Glu,ENST00000458501,;HGSNAT,missense_variant,p.Val286Glu,ENST00000379644,;HGSNAT,upstream_gene_variant,,ENST00000521576,;HGSNAT,upstream_gene_variant,,ENST00000297798,;HGSNAT,upstream_gene_variant,,ENST00000524016,;HGSNAT,upstream_gene_variant,,ENST00000520678,;HGSNAT,upstream_gene_variant,,ENST00000519000,;HGSNAT,downstream_gene_variant,,ENST00000520704,;	899	251	207	SUCCESS
OPRK1	4986	.	GRCh37	8	54147486	54147486	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746292250	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	11	116	0	ENST00000265572.3:c.443C>G	p.Thr148Ser	p.T148S	ENST00000265572	NM_000912.3	148	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS6152.1	443	MUTECT|MUSE	.	TCAAGGTGAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00384,Prints_domain:PR00237	.	.	ENSP00000265572	.	3/4	.	.	.	.	.	.	.	.	rs746292250	3/4	PASS	ENST00000265572	Transcript	.	.	ENSG00000082556	8154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	OPRK_HUMAN	OPRK1	HGNC	.	.	UPI000011D794	SNV	OPRK1,missense_variant,p.Thr59Ser,ENST00000524278,;OPRK1,missense_variant,p.Thr148Ser,ENST00000520287,;OPRK1,missense_variant,p.Thr148Ser,ENST00000265572,;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;	741	116	178	SUCCESS
YTHDF3	253943	.	GRCh37	8	64098980	64098980	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	370	28	306	0	ENST00000539294.1:c.408G>A	p.Gly136=	p.G136=	ENST00000539294	NM_001277817.1	136	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	408	MUTECT|MUSE	.	TGGGGGACAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12357:SF9,hmmpanther:PTHR12357	.	.	ENSP00000473496	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000539294	Transcript	.	.	ENSG00000185728	26465	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	YTHDF3	HGNC	R4GN55_HUMAN,R4GMX0_HUMAN	.	UPI0002C8850B	SNV	YTHDF3,synonymous_variant,p.%3D,ENST00000539294,;YTHDF3,5_prime_UTR_variant,,ENST00000542911,;YTHDF3,intron_variant,,ENST00000517371,;YTHDF3,upstream_gene_variant,,ENST00000518373,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000523455,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000518438,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000520640,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000521547,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000521674,;YTHDF3,non_coding_transcript_exon_variant,,ENST00000517303,;YTHDF3,downstream_gene_variant,,ENST00000523056,;YTHDF3,downstream_gene_variant,,ENST00000518763,;YTHDF3,downstream_gene_variant,,ENST00000517375,;YTHDF3,3_prime_UTR_variant,,ENST00000524135,;	724	306	398	SUCCESS
TRIM55	84675	.	GRCh37	8	67067941	67067941	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	22	317	0	ENST00000315962.4:c.1524+1372A>C		p.*508*	ENST00000315962	NM_184085.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6184.1	.	MUTECT|MUSE	.	ACTTTAATGGG	NONE	.	.	.	.	.	ENSP00000323913	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315962	Transcript	.	.	ENSG00000147573	14215	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI55_HUMAN	TRIM55	HGNC	.	.	UPI00001CE3B7	SNV	TRIM55,missense_variant,p.Leu536Phe,ENST00000276573,;TRIM55,intron_variant,,ENST00000315962,;TRIM55,intron_variant,,ENST00000353317,;TRIM55,intron_variant,,ENST00000350034,;TRIM55,intron_variant,,ENST00000517647,;	.	317	260	SUCCESS
KCNB2	9312	.	GRCh37	8	73848335	73848335	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	334	33	254	0	ENST00000523207.1:c.745C>G	p.Leu249Val	p.L249V	ENST00000523207	NM_004770.2	249	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS6209.1	745	MUTECT|MUSE|VARSCANS	.	AGTACCTTTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000430846	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.759)	.	tolerated(0.16)	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Leu249Val,ENST00000523207,;	1333	254	368	SUCCESS
FABP9	646480	.	GRCh37	8	82370841	82370841	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	75	385	1	ENST00000379071.2:c.344T>C	p.Val115Ala	p.V115A	ENST00000379071	NM_001080526.1	115	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	.	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTACCATT	NONE	.	.	hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF70,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178	.	.	ENSP00000368362	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000379071	Transcript	.	.	ENSG00000205186	3563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	deleterious(0)	.	FABP9_HUMAN	FABP9	HGNC	.	.	UPI000004D28E	SNV	FABP9,missense_variant,p.Val115Ala,ENST00000379071,;RP11-157I4.4,intron_variant,,ENST00000524085,;	400	386	308	SUCCESS
LRRCC1	85444	.	GRCh37	8	86057621	86057621	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	129	315	0	ENST00000360375.3:c.2977-3T>A		p.X993_splice	ENST00000360375	NM_033402.4	993		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43750.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATTTAGGTC	NONE	.	.	.	.	.	ENSP00000353538	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360375	Transcript	.	.	ENSG00000133739	29373	.	.	LOW	18/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRCC1_HUMAN	LRRCC1	HGNC	.	.	UPI000021002F	SNV	LRRCC1,splice_region_variant,,ENST00000360375,;LRRCC1,splice_region_variant,,ENST00000414626,;	.	315	273	SUCCESS
LRRCC1	85444	.	GRCh37	8	86057622	86057622	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	129	310	0	ENST00000360375.3:c.2977-2A>T		p.X993_splice	ENST00000360375	NM_033402.4	993		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43750.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTAGGTCC	NONE	.	.	.	.	.	ENSP00000353538	.	.	.	.	.	.	.	.	.	.	COSM606266,COSM606267	.	PASS	ENST00000360375	Transcript	.	.	ENSG00000133739	29373	.	.	HIGH	18/18	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	LRCC1_HUMAN	LRRCC1	HGNC	.	.	UPI000021002F	SNV	LRRCC1,splice_acceptor_variant,,ENST00000360375,;LRRCC1,splice_acceptor_variant,,ENST00000414626,;	.	310	272	SUCCESS
STK3	6788	.	GRCh37	8	99560362	99560362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	7	110	0	ENST00000419617.2:c.976A>T	p.Met326Leu	p.M326L	ENST00000419617	NM_006281.3	326	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS59108.1	1060	MUTECT|MUSE	.	CACCATGGTGT	NONE	.	.	hmmpanther:PTHR24361:SF247,hmmpanther:PTHR24361	.	.	ENSP00000429744	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000523601	Transcript	.	.	ENSG00000104375	11406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.25)	.	.	STK3	HGNC	B3KYA7_HUMAN	.	UPI00004FB517	SNV	STK3,missense_variant,p.Met354Leu,ENST00000523601,;STK3,missense_variant,p.Met326Leu,ENST00000419617,;STK3,missense_variant,p.Met215Leu,ENST00000518165,;STK3,non_coding_transcript_exon_variant,,ENST00000523159,;STK3,non_coding_transcript_exon_variant,,ENST00000518582,;STK3,non_coding_transcript_exon_variant,,ENST00000520440,;	1460	110	197	SUCCESS
COL15A1	1306	.	GRCh37	9	101749575	101749575	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs1354262734	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	51	0	ENST00000375001.3:c.649-1G>A		p.X217_splice	ENST00000375001	NM_001855.4	217		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35081.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGGCTC	NONE	.	.	.	.	.	ENSP00000364140	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	HIGH	3/41	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,splice_acceptor_variant,,ENST00000375001,;COL15A1,downstream_gene_variant,,ENST00000471477,;	.	51	84	SUCCESS
GRIN3A	116443	.	GRCh37	9	104449365	104449365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	10	174	0	ENST00000361820.3:c.817G>T	p.Asp273Tyr	p.D273Y	ENST00000361820	NM_133445.2	273	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6758.1	817	MUTECT|MUSE	.	CCAGTCTTCCT	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	.	.	ENSP00000355155	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.629)	.	tolerated(1)	.	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,missense_variant,p.Asp273Tyr,ENST00000361820,;	1418	175	180	SUCCESS
SMC2	10592	.	GRCh37	9	106894408	106894408	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	337	41	375	0	ENST00000286398.7:c.3108+2T>G		p.X1036_splice	ENST00000286398	NM_006444.2	1036		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35086.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGTACTTT	NONE	.	.	.	.	.	ENSP00000286398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286398	Transcript	.	.	ENSG00000136824	14011	.	.	HIGH	22/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMC2_HUMAN	SMC2	HGNC	Q5T821_HUMAN	.	UPI000013DE44	SNV	SMC2,splice_donor_variant,,ENST00000303219,;SMC2,splice_donor_variant,,ENST00000374793,;SMC2,splice_donor_variant,,ENST00000286398,;SMC2,splice_donor_variant,,ENST00000374787,;SMC2,splice_donor_variant,,ENST00000493955,;	.	376	379	SUCCESS
KIAA0368	0	.	GRCh37	9	114202776	114202776	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	81	1	ENST00000259335.4:c.949C>A	p.Leu317Ile	p.L317I	ENST00000259335	NM_001080398.1	317	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS48006.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGGGTTG	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Pfam_domain:PF13001	.	.	ENSP00000259335	.	7/51	.	.	.	.	.	.	.	.	.	7/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	tolerated(0.07)	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Leu139Ile,ENST00000338205,;KIAA0368,missense_variant,p.Leu145Ile,ENST00000602447,;KIAA0368,missense_variant,p.Leu317Ile,ENST00000259335,;KIAA0368,downstream_gene_variant,,ENST00000602978,;	949	82	77	SUCCESS
ALAD	210	.	GRCh37	9	116151330	116151330	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	9	62	0	ENST00000409155.3:c.858G>C	p.Trp286Cys	p.W286C	ENST00000409155	NM_000031.5	286	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS6794.2	858	MUTECT|MUSE|VARSCANS	.	CCATGCCACAG	NONE	.	.	hmmpanther:PTHR11458,hmmpanther:PTHR11458:SF0,Gene3D:3.20.20.70,Pfam_domain:PF00490,SMART_domains:SM01004,PIRSF_domain:PIRSF001415,Superfamily_domains:SSF51569,Prints_domain:PR00144	.	.	ENSP00000386284	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000409155	Transcript	.	.	ENSG00000148218	395	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.018)	.	tolerated(0.18)	.	HEM2_HUMAN	ALAD	HGNC	.	.	UPI0000037431	SNV	ALAD,missense_variant,p.Trp269Cys,ENST00000277315,;ALAD,missense_variant,p.Trp286Cys,ENST00000409155,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000448137,;ALAD,downstream_gene_variant,,ENST00000445750,;ALAD,downstream_gene_variant,,ENST00000482001,;ALAD,non_coding_transcript_exon_variant,,ENST00000482847,;ALAD,downstream_gene_variant,,ENST00000494848,;ALAD,downstream_gene_variant,,ENST00000468504,;ALAD,downstream_gene_variant,,ENST00000464749,;	1055	63	105	SUCCESS
ORM1	5004	.	GRCh37	9	117086341	117086341	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369031896	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	439	55	605	1	ENST00000259396.8:c.301C>T	p.Arg101Trp	p.R101W	ENST00000259396	NM_000607.2	101	Cgg/Tgg	0	.	T:0	.	T:0.0029	.	T	R/W	protein_coding	YES	CCDS6803.1	301	RADIA|MUSE|VARSCANS	.	TCCAGCGGGAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11967,hmmpanther:PTHR11967:SF2,Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036899,Superfamily_domains:SSF50814,Prints_domain:PR00708	T:0.001	.	ENSP00000259396	T:0	3/6	.	.	.	.	.	.	.	.	rs369031896	3/6	PASS	ENST00000259396	Transcript	.	T:0.0006	ENSG00000229314	8498	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.843)	T:0	deleterious(0.04)	.	A1AG1_HUMAN	ORM1	HGNC	.	.	UPI0000052DC8	SNV	ORM1,missense_variant,p.Arg101Trp,ENST00000259396,;ORM1,3_prime_UTR_variant,,ENST00000538816,;ORM1,non_coding_transcript_exon_variant,,ENST00000477456,;	379	606	495	SUCCESS
ZBTB6	10773	.	GRCh37	9	125674263	125674263	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	194	30	160	0	ENST00000373659.3:c.89A>G	p.Asn30Ser	p.N30S	ENST00000373659	NM_006626.5	30	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6846.1	89	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATTCTGC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF91,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	.	.	ENSP00000362763	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373659	Transcript	.	.	ENSG00000186130	16764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.21)	.	ZBTB6_HUMAN	ZBTB6	HGNC	.	.	UPI000006D7C8	SNV	ZBTB6,missense_variant,p.Asn30Ser,ENST00000373659,;ZBTB26,downstream_gene_variant,,ENST00000373656,;	178	160	225	SUCCESS
OLFML2A	169611	.	GRCh37	9	127561615	127561615	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs533587628	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	77	1	ENST00000373580.3:c.514C>A	p.Arg172Ser	p.R172S	ENST00000373580	NM_182487.2	172	Cgc/Agc	0	.	T:0.0008	.	T:0	.	A	R/S	protein_coding	YES	CCDS6857.2	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCGCCAC	NONE	byFrequency|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29	T:0.001	.	ENSP00000362682	T:0	4/8	.	.	.	.	.	.	.	.	rs533587628	4/8	PASS	ENST00000373580	Transcript	.	T:0.0004	ENSG00000185585	27270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	T:0	tolerated(0.53)	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,missense_variant,p.Arg136Ser,ENST00000331715,;OLFML2A,missense_variant,p.Arg172Ser,ENST00000373580,;OLFML2A,upstream_gene_variant,,ENST00000288815,;	514	78	122	SUCCESS
LMX1B	4010	.	GRCh37	9	129453272	129453272	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	40	52	0	ENST00000373474.4:c.484C>A	p.Gln162Lys	p.Q162K	ENST00000373474		162	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS55343.1	484	RADIA|MUTECT|MUSE	.	AGGGCCAGCTG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132	.	.	ENSP00000347684	.	3/8	.	.	.	.	.	.	.	.	CM992923	3/8	PASS	ENST00000355497	Transcript	.	.	ENSG00000136944	6654	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LMX1B_HUMAN	LMX1B	HGNC	Q9UE66_HUMAN,B7ZLH2_HUMAN	.	UPI0001CE94D0	SNV	LMX1B,missense_variant,p.Gln139Lys,ENST00000425646,;LMX1B,missense_variant,p.Gln162Lys,ENST00000373474,;LMX1B,missense_variant,p.Gln162Lys,ENST00000526117,;LMX1B,missense_variant,p.Gln139Lys,ENST00000561065,;LMX1B,missense_variant,p.Gln162Lys,ENST00000355497,;	491	52	76	SUCCESS
CDK9	1025	.	GRCh37	9	130550943	130550943	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	88	230	0	ENST00000373264.4:c.725G>T	p.Ser242Ile	p.S242I	ENST00000373264	NM_001261.3	242	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS6879.1	725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGTCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF158,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362361	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000373264	Transcript	.	.	ENSG00000136807	1780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.46)	.	CDK9_HUMAN	CDK9	HGNC	.	.	UPI000013D041	SNV	CDK9,missense_variant,p.Ser359Ile,ENST00000373265,;CDK9,missense_variant,p.Ser242Ile,ENST00000373264,;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,non_coding_transcript_exon_variant,,ENST00000498339,;CDK9,downstream_gene_variant,,ENST00000480353,;CDK9,downstream_gene_variant,,ENST00000491521,;	825	230	366	SUCCESS
ODF2	4957	.	GRCh37	9	131256871	131256871	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	24	109	0	ENST00000434106.3:c.1835A>C	p.Glu612Ala	p.E612A	ENST00000434106	NM_153433.1	612	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS56588.1	1835	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGAGTGCC	BUFFER|p.A584A|c.1752G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162	.	.	ENSP00000403453	.	17/21	.	.	.	.	.	.	.	.	COSM487088,COSM1137954	17/21	PASS	ENST00000434106	Transcript	.	.	ENSG00000136811	8114	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.331)	.	deleterious(0.04)	1,1	ODFP2_HUMAN	ODF2	HGNC	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN	.	UPI0000211922	SNV	ODF2,missense_variant,p.Glu656Ala,ENST00000372814,;ODF2,missense_variant,p.Glu32Ala,ENST00000483070,;ODF2,missense_variant,p.Glu531Ala,ENST00000448249,;ODF2,missense_variant,p.Glu607Ala,ENST00000351030,;ODF2,missense_variant,p.Glu588Ala,ENST00000393527,;ODF2,missense_variant,p.Glu612Ala,ENST00000604420,;ODF2,missense_variant,p.Glu588Ala,ENST00000444119,;ODF2,missense_variant,p.Glu612Ala,ENST00000434106,;ODF2,missense_variant,p.Glu593Ala,ENST00000372791,;ODF2,missense_variant,p.Glu593Ala,ENST00000546203,;ODF2,missense_variant,p.Glu607Ala,ENST00000372807,;ODF2,missense_variant,p.Glu612Ala,ENST00000393533,;ODF2,upstream_gene_variant,,ENST00000488909,;	2198	109	144	SUCCESS
PPP2R4	0	.	GRCh37	9	131909700	131909700	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781027271	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	27	0	ENST00000337738.1:c.1034A>G	p.Lys345Arg	p.K345R	ENST00000337738	NM_178001.2	345	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6920.1	929	RADIA|MUTECT|MUSE	.	CTTCAAGTTCG	NONE	.	.	hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984	.	.	ENSP00000377036	.	10/10	.	.	.	.	.	.	.	.	rs781027271	10/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.34)	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,missense_variant,p.Lys281Arg,ENST00000357197,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000434095,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000432651,;PPP2R4,missense_variant,p.Lys310Arg,ENST00000393370,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000419582,;PPP2R4,missense_variant,p.Lys345Arg,ENST00000337738,;PPP2R4,missense_variant,p.Lys310Arg,ENST00000358994,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000414510,;PPP2R4,missense_variant,p.Lys268Arg,ENST00000355007,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000435132,;PPP2R4,missense_variant,p.Lys316Arg,ENST00000348141,;PPP2R4,missense_variant,p.Lys91Arg,ENST00000347048,;PPP2R4,missense_variant,p.Lys48Arg,ENST00000423100,;PPP2R4,downstream_gene_variant,,ENST00000432124,;PPP2R4,downstream_gene_variant,,ENST00000435305,;PPP2R4,downstream_gene_variant,,ENST00000436883,;PPP2R4,downstream_gene_variant,,ENST00000524946,;PPP2R4,downstream_gene_variant,,ENST00000452489,;PPP2R4,downstream_gene_variant,,ENST00000411917,;PPP2R4,downstream_gene_variant,,ENST00000417728,;	1212	28	67	SUCCESS
PPP2R4	0	.	GRCh37	9	131909703	131909703	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	28	0	ENST00000337738.1:c.1037T>C	p.Phe346Ser	p.F346S	ENST00000337738	NM_178001.2	346	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS6920.1	932	RADIA|MUTECT|MUSE	.	CAAGTTCGGGA	NONE	.	.	hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984	.	.	ENSP00000377036	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,missense_variant,p.Phe282Ser,ENST00000357197,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000434095,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000432651,;PPP2R4,missense_variant,p.Phe311Ser,ENST00000393370,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000419582,;PPP2R4,missense_variant,p.Phe346Ser,ENST00000337738,;PPP2R4,missense_variant,p.Phe311Ser,ENST00000358994,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000414510,;PPP2R4,missense_variant,p.Phe269Ser,ENST00000355007,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000435132,;PPP2R4,missense_variant,p.Phe317Ser,ENST00000348141,;PPP2R4,missense_variant,p.Phe92Ser,ENST00000347048,;PPP2R4,missense_variant,p.Phe49Ser,ENST00000423100,;PPP2R4,downstream_gene_variant,,ENST00000432124,;PPP2R4,downstream_gene_variant,,ENST00000435305,;PPP2R4,downstream_gene_variant,,ENST00000436883,;PPP2R4,downstream_gene_variant,,ENST00000524946,;PPP2R4,downstream_gene_variant,,ENST00000452489,;PPP2R4,downstream_gene_variant,,ENST00000411917,;PPP2R4,downstream_gene_variant,,ENST00000417728,;	1215	28	64	SUCCESS
NCS1	23413	.	GRCh37	9	132934955	132934955	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	37	0	ENST00000372398.3:c.13A>G	p.Asn5Asp	p.N5D	ENST00000372398	NM_014286.3	5	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS6932.1	13	RADIA|MUSE	.	AATCCAACAGC	NONE	.	.	hmmpanther:PTHR23055,Superfamily_domains:SSF47473	.	.	ENSP00000361475	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000372398	Transcript	.	.	ENSG00000107130	3953	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.2)	.	NCS1_HUMAN	NCS1	HGNC	.	.	UPI00000000FB	SNV	NCS1,missense_variant,p.Asn5Asp,ENST00000372398,;	99	37	20	SUCCESS
LAMC3	10319	.	GRCh37	9	133948175	133948175	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	15	90	0	ENST00000361069.4:c.3370T>A	p.Ser1124Thr	p.S1124T	ENST00000361069	NM_006059.3	1124	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS6938.1	3370	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGTCCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240	.	.	ENSP00000354360	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.11)	.	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,missense_variant,p.Ser1124Thr,ENST00000361069,;LAMC3,intron_variant,,ENST00000480883,;	3503	91	160	SUCCESS
C9orf96	0	.	GRCh37	9	136269044	136269044	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	30	0	ENST00000371957.3:c.1604G>T	p.Gly535Val	p.G535V	ENST00000371957	NM_153710.4	535	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS35169.1	1604	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCTGCA	NONE	.	.	hmmpanther:PTHR24363:SF3,hmmpanther:PTHR24363,Superfamily_domains:SSF48371	.	.	ENSP00000361025	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000371957	Transcript	.	.	ENSG00000198870	28669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SGK71_HUMAN	C9orf96	HGNC	.	.	UPI00001D763E	SNV	C9orf96,missense_variant,p.Gly68Val,ENST00000371955,;C9orf96,missense_variant,p.Gly535Val,ENST00000371957,;REXO4,downstream_gene_variant,,ENST00000371935,;REXO4,downstream_gene_variant,,ENST00000454825,;REXO4,downstream_gene_variant,,ENST00000371942,;	1711	30	84	SUCCESS
SARDH	1757	.	GRCh37	9	136582451	136582451	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763885261	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	34	0	ENST00000371872.4:c.1147C>A	p.Pro383Thr	p.P383T	ENST00000371872	NM_007101.3	383	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6978.1	1147	MUTECT|VARSCANS	.	ACCAGGGCCGC	NONE	.	.	hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000360938	.	8/21	.	.	.	.	.	.	.	.	rs763885261	8/21	PASS	ENST00000371872	Transcript	.	.	ENSG00000123453	10536	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	SARDH_HUMAN	SARDH	HGNC	Q5SYV1_HUMAN,B4DPI2_HUMAN	.	UPI000006F076	SNV	SARDH,missense_variant,p.Pro383Thr,ENST00000439388,;SARDH,missense_variant,p.Pro383Thr,ENST00000371872,;SARDH,missense_variant,p.Pro383Thr,ENST00000427237,;SARDH,missense_variant,p.Pro215Thr,ENST00000422262,;SARDH,downstream_gene_variant,,ENST00000371867,;	1405	34	82	SUCCESS
CACNA1B	774	.	GRCh37	9	140880982	140880982	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	17	236	0	ENST00000371372.1:c.1887G>T	p.Gln629His	p.Q629H	ENST00000371372	NM_001243812.1	629	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS59522.1	1887	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGCTGTT	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000360423	.	14/47	.	.	.	.	.	.	.	.	.	14/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.385)	.	deleterious(0)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Gln630His,ENST00000371355,;CACNA1B,missense_variant,p.Gln630His,ENST00000371357,;CACNA1B,missense_variant,p.Gln629His,ENST00000277551,;CACNA1B,missense_variant,p.Gln629His,ENST00000371363,;CACNA1B,missense_variant,p.Gln629His,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	2032	236	168	SUCCESS
PLIN2	123	.	GRCh37	9	19121143	19121143	+	synonymous_variant	Silent	SNP	G	G	A	rs368424624	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	100	1	ENST00000276914.2:c.330C>T	p.Gly110=	p.G110=	ENST00000276914	NM_001122.3	110	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6490.1	330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGCCTTT	NONE	byCluster	.	hmmpanther:PTHR14024,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881	.	.	ENSP00000276914	.	5/8	.	.	.	.	.	.	.	.	rs368424624	5/8	PASS	ENST00000276914	Transcript	.	.	ENSG00000147872	248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLIN2_HUMAN	PLIN2	HGNC	Q6FHZ7_HUMAN,Q5SYF5_HUMAN,B4DJK9_HUMAN	.	UPI0000125535	SNV	PLIN2,synonymous_variant,p.%3D,ENST00000276914,;PLIN2,synonymous_variant,p.%3D,ENST00000434144,;PLIN2,synonymous_variant,p.%3D,ENST00000411567,;PLIN2,downstream_gene_variant,,ENST00000380465,;PLIN2,downstream_gene_variant,,ENST00000380464,;PLIN2,upstream_gene_variant,,ENST00000464326,;PLIN2,downstream_gene_variant,,ENST00000475923,;PLIN2,downstream_gene_variant,,ENST00000472715,;	510	101	70	SUCCESS
KCNV2	169522	.	GRCh37	9	2718262	2718262	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766187569	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	38	0	ENST00000382082.3:c.523G>A	p.Gly175Arg	p.G175R	ENST00000382082	NM_133497.3	175	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6447.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGACGGGCTG	NONE	byFrequency	.	Prints_domain:PR01494,Superfamily_domains:SSF54695,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	.	ENSP00000371514	.	1/2	.	.	.	.	.	.	.	.	rs766187569,COSM387954	1/2	PASS	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.067)	.	deleterious(0)	0,1	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,missense_variant,p.Gly175Arg,ENST00000382082,;KIAA0020,downstream_gene_variant,,ENST00000490444,;	761	38	46	SUCCESS
FOXD4L5	653427	.	GRCh37	9	70177646	70177646	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	172	0	ENST00000377420.1:c.338A>G	p.Tyr113Cys	p.Y113C	ENST00000377420	NM_001126334.1	113	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47977.1	338	MUTECT|VARSCANS	.	CGATGTACGAG	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF149,hmmpanther:PTHR11829,PROSITE_patterns:PS00657,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000366637	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377420	Transcript	.	.	ENSG00000204779	18522	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FX4L5_HUMAN	FOXD4L5	HGNC	Q8WTR0_HUMAN	.	UPI0000458A33	SNV	FOXD4L5,missense_variant,p.Tyr113Cys,ENST00000377420,;RP11-15J10.1,downstream_gene_variant,,ENST00000445695,;	1170	173	129	SUCCESS
KANK1	23189	.	GRCh37	9	738429	738429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374492770	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	14	172	0	ENST00000382297.2:c.3478G>A	p.Gly1160Ser	p.G1160S	ENST00000382297	NM_001256877.1	1160	Ggc/Agc	0	A:0	.	.	.	.	A	G/S	protein_coding	YES	CCDS34976.1	3478	MUTECT|MUSE|VARSCANS	.	CAGACGGCAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	A:0.0001	ENSP00000371740	.	12/16	.	.	.	.	.	.	.	.	rs374492770	12/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.962)	.	deleterious(0.02)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Gly79Ser,ENST00000382286,;KANK1,missense_variant,p.Gly1002Ser,ENST00000382293,;KANK1,missense_variant,p.Gly1160Ser,ENST00000382303,;KANK1,missense_variant,p.Gly160Ser,ENST00000382289,;KANK1,missense_variant,p.Gly1160Ser,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,downstream_gene_variant,,ENST00000354485,;	4130	173	151	SUCCESS
PRUNE2	158471	.	GRCh37	9	79322715	79322715	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	76	0	ENST00000376718.3:c.4475G>T	p.Gly1492Val	p.G1492V	ENST00000376718	NM_015225.2	1492	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS47982.1	4475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCCCAAAA	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	tolerated(0.32)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Gly814Val,ENST00000426088,;PRUNE2,missense_variant,p.Gly1492Val,ENST00000376718,;PRUNE2,missense_variant,p.Gly1133Val,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	4599	76	66	SUCCESS
VPS13A	23230	.	GRCh37	9	79824389	79824389	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	19	196	0	ENST00000360280.3:c.436C>T	p.Gln146Ter	p.Q146*	ENST00000360280	NM_033305.2	146	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6655.1	436	MUTECT|MUSE|VARSCANS	.	TTACACAGATC	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	6/72	.	.	.	.	.	.	.	.	.	6/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,stop_gained,p.Gln146Ter,ENST00000357409,;VPS13A,stop_gained,p.Gln146Ter,ENST00000376634,;VPS13A,stop_gained,p.Gln146Ter,ENST00000376636,;VPS13A,stop_gained,p.Gln146Ter,ENST00000360280,;VPS13A,upstream_gene_variant,,ENST00000471439,;	696	196	235	SUCCESS
WWC3	55841	.	GRCh37	X	10085259	10085259	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	79	34	0	ENST00000380861.4:c.1160G>A	p.Ser387Asn	p.S387N	ENST00000380861	NM_015691.3	387	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS14136.1	1160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGCTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25	.	.	ENSP00000370242	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000380861	Transcript	.	.	ENSG00000047644	29237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	tolerated(0.34)	.	WWC3_HUMAN	WWC3	HGNC	T2C6S4_HUMAN	.	UPI0000225CDE	SNV	WWC3,missense_variant,p.Ser387Asn,ENST00000380861,;WWC3,missense_variant,p.Ser387Asn,ENST00000454666,;	1551	34	86	SUCCESS
MORF4L2	9643	.	GRCh37	X	102931737	102931737	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	28	70	0	ENST00000360458.1:c.219G>T	p.Arg73Ser	p.R73S	ENST00000360458	NM_001142421.1	73	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS14512.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCTCAC	NONE	.	.	hmmpanther:PTHR10880:SF25,hmmpanther:PTHR10880	.	.	ENSP00000416120	.	3/3	.	.	.	.	.	.	.	.	COSM403571	3/3	PASS	ENST00000423833	Transcript	.	.	ENSG00000123562	16849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.69)	1	MO4L2_HUMAN	MORF4L2	HGNC	Q5JXX6_HUMAN,Q5JXX4_HUMAN,Q5JXX3_HUMAN,Q5JXX2_HUMAN,Q5JXX1_HUMAN,B4DXQ8_HUMAN,B3KWX6_HUMAN	.	UPI000012F567	SNV	MORF4L2,missense_variant,p.Arg73Ser,ENST00000442614,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000418819,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000423833,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000434230,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000441076,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000422154,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000433176,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000451301,;MORF4L2,missense_variant,p.Arg73Ser,ENST00000360458,;MORF4L2,downstream_gene_variant,,ENST00000422355,;MORF4L2,non_coding_transcript_exon_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000467755,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;	1445	70	122	SUCCESS
PLP1	5354	.	GRCh37	X	103041518	103041518	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	280	84	139	0	ENST00000418604.1:c.316A>G	p.Thr106Ala	p.T106A	ENST00000418604	NM_001128834.1	106	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14513.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGACCACC	NONE	.	.	hmmpanther:PTHR11683:SF11,hmmpanther:PTHR11683,Pfam_domain:PF01275,Prints_domain:PR00214	.	.	ENSP00000405750	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.23)	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	SNV	PLP1,missense_variant,p.Thr106Ala,ENST00000455268,;PLP1,missense_variant,p.Thr106Ala,ENST00000429977,;PLP1,missense_variant,p.Thr106Ala,ENST00000434483,;PLP1,missense_variant,p.Thr106Ala,ENST00000422393,;PLP1,missense_variant,p.Thr106Ala,ENST00000361621,;PLP1,missense_variant,p.Thr106Ala,ENST00000303958,;PLP1,missense_variant,p.Thr106Ala,ENST00000443502,;PLP1,missense_variant,p.Thr106Ala,ENST00000418604,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000485931,;PLP1,non_coding_transcript_exon_variant,,ENST00000494475,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000476160,;PLP1,intron_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,upstream_gene_variant,,ENST00000494119,;PLP1,upstream_gene_variant,,ENST00000466486,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	596	140	365	SUCCESS
PLP1	5354	.	GRCh37	X	103041636	103041636	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs132630292	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	296	36	165	0	ENST00000418604.1:c.434G>A	p.Trp145Ter	p.W145*	ENST00000418604	NM_001128834.1	145	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS14513.1	434	RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AAAATGGCTAG	NONE	.	.	hmmpanther:PTHR11683:SF11,hmmpanther:PTHR11683,Pfam_domain:PF01275,Prints_domain:PR00214	.	.	ENSP00000405750	.	4/8	.	.	.	.	.	.	.	.	CM950965,rs132630292	4/8	PASS	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	SNV	PLP1,stop_gained,p.Trp145Ter,ENST00000303958,;PLP1,stop_gained,p.Trp145Ter,ENST00000418604,;PLP1,intron_variant,,ENST00000361621,;PLP1,downstream_gene_variant,,ENST00000455268,;PLP1,downstream_gene_variant,,ENST00000429977,;PLP1,downstream_gene_variant,,ENST00000434483,;PLP1,downstream_gene_variant,,ENST00000422393,;PLP1,downstream_gene_variant,,ENST00000443502,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000485931,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000476160,;PLP1,intron_variant,,ENST00000461231,;PLP1,intron_variant,,ENST00000479569,;PLP1,intron_variant,,ENST00000485688,;PLP1,intron_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,downstream_gene_variant,,ENST00000494475,;PLP1,upstream_gene_variant,,ENST00000494119,;PLP1,upstream_gene_variant,,ENST00000466486,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	714	166	333	SUCCESS
IRS4	8471	.	GRCh37	X	107976586	107976586	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs189095515	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	66	0	ENST00000372129.2:c.2989C>T	p.Leu997Phe	p.L997F	ENST00000372129	NM_003604.2	997	Ctt/Ttt	0	.	A:0.0008	.	A:0	.	A	L/F	protein_coding	YES	CCDS14544.1	2989	RADIA|MUTECT|MUSE	.	AGGAAGTGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	A:0	.	ENSP00000361202	A:0	1/1	.	.	.	.	.	.	.	.	rs189095515	1/1	PASS	ENST00000372129	Transcript	.	A:0.0003	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	A:0	tolerated(0.26)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Leu997Phe,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	3066	66	133	SUCCESS
RBMXL3	139804	.	GRCh37	X	114424168	114424168	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	58	42	0	ENST00000424776.3:c.164C>A	p.Thr55Asn	p.T55N	ENST00000424776	NM_001145346.1	55	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS55478.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCACCTTCG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Thr55Asn,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	206	42	217	SUCCESS
CUL4B	8450	.	GRCh37	X	119669737	119669737	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	373	31	152	0	ENST00000404115.3:c.2162T>G	p.Leu721Arg	p.L721R	ENST00000404115	NM_003588.3	721	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS35379.1	2162	MUTECT|MUSE	.	ACTGAAGTTTC	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF66,Gene3D:1ldjA05,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000384109	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000404115	Transcript	.	.	ENSG00000158290	2555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CUL4B_HUMAN	CUL4B	HGNC	.	.	UPI0000246E48	SNV	CUL4B,missense_variant,p.Leu708Arg,ENST00000336592,;CUL4B,missense_variant,p.Leu703Arg,ENST00000371322,;CUL4B,missense_variant,p.Leu721Arg,ENST00000404115,;CUL4B,non_coding_transcript_exon_variant,,ENST00000497616,;	2564	153	405	SUCCESS
OCRL	4952	.	GRCh37	X	128722192	128722192	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	30	103	0	ENST00000371113.4:c.2293C>T	p.Leu765Phe	p.L765F	ENST00000371113	NM_000276.3	765	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS35393.1	2293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCTCCAG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000360154	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000371113	Transcript	.	.	ENSG00000122126	8108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.97)	.	OCRL_HUMAN	OCRL	HGNC	.	.	UPI0000167B0B	SNV	OCRL,missense_variant,p.Leu765Phe,ENST00000371113,;OCRL,missense_variant,p.Leu757Phe,ENST00000357121,;OCRL,upstream_gene_variant,,ENST00000463271,;	2458	103	160	SUCCESS
FRMD7	90167	.	GRCh37	X	131212315	131212315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752045112	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	24	109	0	ENST00000298542.4:c.1730C>T	p.Ala577Val	p.A577V	ENST00000298542	NM_194277.2	577	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS35397.1	1730	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGCATCT	NONE	byFrequency	.	.	.	.	ENSP00000298542	.	12/12	.	.	.	.	.	.	.	.	rs752045112	12/12	PASS	ENST00000298542	Transcript	.	.	ENSG00000165694	8079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.24)	.	FRMD7_HUMAN	FRMD7	HGNC	.	.	UPI00001C0AED	SNV	FRMD7,missense_variant,p.Ala562Val,ENST00000464296,;FRMD7,missense_variant,p.Ala457Val,ENST00000370879,;FRMD7,missense_variant,p.Ala577Val,ENST00000298542,;MST4,downstream_gene_variant,,ENST00000394334,;MST4,downstream_gene_variant,,ENST00000496850,;MST4,downstream_gene_variant,,ENST00000481105,;MST4,downstream_gene_variant,,ENST00000394335,;MST4,downstream_gene_variant,,ENST00000354719,;	1906	109	224	SUCCESS
GPR112	0	.	GRCh37	X	135453612	135453612	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761730115	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	259	23	164	0	ENST00000370652.1:c.7522A>G	p.Met2508Val	p.M2508V	ENST00000370652		2508	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS35409.1	7522	MUTECT|MUSE	.	TAAGTATGAAC	NONE	byFrequency	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	14/26	.	.	.	.	.	.	.	.	rs761730115	14/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.23)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Met2306Val,ENST00000287534,;GPR112,missense_variant,p.Met2508Val,ENST00000370652,;GPR112,missense_variant,p.Met2508Val,ENST00000394143,;GPR112,missense_variant,p.Met2303Val,ENST00000394141,;GPR112,missense_variant,p.Met2303Val,ENST00000412101,;	7813	164	282	SUCCESS
MAGEC3	139081	.	GRCh37	X	140985121	140985121	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	7	49	0	ENST00000298296.1:c.1577A>G	p.Glu526Gly	p.E526G	ENST00000298296	NM_138702.1	526	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14676.1	1577	MUTECT|MUSE	.	CTTTGAAGACA	BUFFER|p.F524L|c.1572C>A|3	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47,Pfam_domain:PF01454	.	.	ENSP00000298296	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.707)	.	tolerated(0.06)	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,missense_variant,p.Glu526Gly,ENST00000298296,;MAGEC3,missense_variant,p.Glu228Gly,ENST00000544766,;MAGEC3,missense_variant,p.Glu228Gly,ENST00000409007,;MAGEC3,missense_variant,p.Glu148Gly,ENST00000443323,;MAGEC3,missense_variant,p.Glu228Gly,ENST00000536088,;MAGEC3,downstream_gene_variant,,ENST00000448920,;MAGEC3,downstream_gene_variant,,ENST00000483584,;	1577	49	102	SUCCESS
HMGB3	3149	.	GRCh37	X	150155724	150155724	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	96	75	0	ENST00000325307.7:c.414A>T	p.Glu138Asp	p.E138D	ENST00000325307	NM_005342.2	138	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS35428.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAAAAGCA	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR13711:SF144,hmmpanther:PTHR13711,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095,Prints_domain:PR00886	.	.	ENSP00000359393	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000325307	Transcript	.	.	ENSG00000029993	5004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(1)	.	HMGB3_HUMAN	HMGB3	HGNC	E9PES6_HUMAN,E7ES08_HUMAN,E7EQU1_HUMAN	.	UPI00000362ED	SNV	HMGB3,missense_variant,p.Glu138Asp,ENST00000430118,;HMGB3,missense_variant,p.Glu138Asp,ENST00000448905,;HMGB3,missense_variant,p.Glu138Asp,ENST00000325307,;HMGB3,missense_variant,p.Glu138Asp,ENST00000455596,;HMGB3,missense_variant,p.Glu138Asp,ENST00000419110,;	510	75	104	SUCCESS
GABRQ	55879	.	GRCh37	X	151821044	151821044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	17	101	0	ENST00000370306.2:c.1199C>A	p.Pro400His	p.P400H	ENST00000370306	NM_018558.3	400	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS14707.1	1199	MUTECT|MUSE	.	TCTCCCCATCA	NONE	.	.	Prints_domain:PR01725,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	.	.	ENSP00000359329	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.126)	.	tolerated(0.1)	.	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,missense_variant,p.Pro400His,ENST00000370306,;	1219	101	262	SUCCESS
PLXNB3	5365	.	GRCh37	X	153035604	153035604	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	76	50	0	ENST00000361971.5:c.1687G>A	p.Ala563Thr	p.A563T	ENST00000361971	NM_005393.2	563	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS55536.1	1756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTGCGTTC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33	.	.	ENSP00000442736	.	9/37	.	.	.	.	.	.	.	.	.	9/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.39)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Ala113Thr,ENST00000538543,;PLXNB3,missense_variant,p.Ala173Thr,ENST00000538282,;PLXNB3,missense_variant,p.Ala586Thr,ENST00000538966,;PLXNB3,missense_variant,p.Ala216Thr,ENST00000538776,;PLXNB3,missense_variant,p.Ala563Thr,ENST00000361971,;PLXNB3,upstream_gene_variant,,ENST00000411613,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;PLXNB3,upstream_gene_variant,,ENST00000482654,;	2027	50	80	SUCCESS
IDH3G	3421	.	GRCh37	X	153055245	153055245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	19	0	ENST00000217901.5:c.268C>T	p.His90Tyr	p.H90Y	ENST00000217901	NM_004135.3	90	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS14730.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTGCACCT	NONE	.	.	hmmpanther:PTHR11835:SF42,hmmpanther:PTHR11835,TIGRFAM_domain:TIGR00175,Pfam_domain:PF00180,Gene3D:3.40.718.10,Superfamily_domains:SSF53659	.	.	ENSP00000217901	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000217901	Transcript	.	.	ENSG00000067829	5386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.74)	.	IDH3G_HUMAN	IDH3G	HGNC	Q2Q9S4_HUMAN,E7EQB8_HUMAN,D3DWV9_HUMAN	.	UPI0000000DBC	SNV	IDH3G,start_lost,p.His1?,ENST00000444338,;IDH3G,missense_variant,p.His67Tyr,ENST00000444450,;IDH3G,missense_variant,p.His32Tyr,ENST00000427365,;IDH3G,missense_variant,p.His90Tyr,ENST00000370093,;IDH3G,missense_variant,p.His90Tyr,ENST00000217901,;IDH3G,missense_variant,p.His90Tyr,ENST00000370092,;SSR4,upstream_gene_variant,,ENST00000370085,;SRPK3,downstream_gene_variant,,ENST00000370108,;IDH3G,upstream_gene_variant,,ENST00000454076,;SRPK3,downstream_gene_variant,,ENST00000370100,;SRPK3,downstream_gene_variant,,ENST00000489426,;SSR4,upstream_gene_variant,,ENST00000320857,;SRPK3,downstream_gene_variant,,ENST00000393786,;SSR4,upstream_gene_variant,,ENST00000370087,;SRPK3,downstream_gene_variant,,ENST00000458681,;SSR4,upstream_gene_variant,,ENST00000370086,;SRPK3,downstream_gene_variant,,ENST00000370104,;SRPK3,downstream_gene_variant,,ENST00000370101,;IDH3G,non_coding_transcript_exon_variant,,ENST00000497043,;IDH3G,non_coding_transcript_exon_variant,,ENST00000495356,;IDH3G,non_coding_transcript_exon_variant,,ENST00000461215,;SSR4,upstream_gene_variant,,ENST00000471724,;SSR4,upstream_gene_variant,,ENST00000471880,;SSR4,upstream_gene_variant,,ENST00000491833,;IDH3G,downstream_gene_variant,,ENST00000491235,;SSR4,upstream_gene_variant,,ENST00000482902,;SSR4,upstream_gene_variant,,ENST00000460616,;	465	19	64	SUCCESS
MAP3K15	389840	.	GRCh37	X	19379516	19379516	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	17	107	1	ENST00000338883.4:c.3798T>C	p.Tyr1266=	p.Y1266=	ENST00000338883	NM_001001671.3	1266	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	.	3798	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTATAACC	NONE	.	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Superfamily_domains:SSF47769	.	.	ENSP00000345629	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,synonymous_variant,p.%3D,ENST00000469203,;MAP3K15,synonymous_variant,p.%3D,ENST00000359173,;MAP3K15,synonymous_variant,p.%3D,ENST00000338883,;PDHA1,3_prime_UTR_variant,,ENST00000422285,;PDHA1,3_prime_UTR_variant,,ENST00000540249,;PDHA1,3_prime_UTR_variant,,ENST00000379806,;PDHA1,3_prime_UTR_variant,,ENST00000545074,;PDHA1,downstream_gene_variant,,ENST00000379804,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;PDHA1,downstream_gene_variant,,ENST00000481733,;PDHA1,downstream_gene_variant,,ENST00000478795,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000470101,;	3798	108	161	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20252926	20252926	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	29	230	0	ENST00000379565.3:c.76C>T	p.Gln26Ter	p.Q26*	ENST00000379565	NM_004586.2	26	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14197.1	76	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGTCCAT	NONE	.	.	hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,PIRSF_domain:PIRSF000606	.	.	ENSP00000368884	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,stop_gained,p.Gln26Ter,ENST00000379565,;RPS6KA3,5_prime_UTR_variant,,ENST00000438357,;RPS6KA3,5_prime_UTR_variant,,ENST00000540702,;RPS6KA3,5_prime_UTR_variant,,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;	284	230	294	SUCCESS
CNKSR2	22866	.	GRCh37	X	21545015	21545015	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759498814	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	33	95	0	ENST00000379510.3:c.988G>A	p.Val330Ile	p.V330I	ENST00000379510	NM_014927.3	330	Gtt/Att	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS14198.1	988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGTTGCC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21	A:0	.	ENSP00000368824	A:0	10/22	.	.	.	.	.	.	.	.	rs759498814	10/22	PASS	ENST00000379510	Transcript	.	A:0.0003	ENSG00000149970	19701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0.001	tolerated(0.28)	.	CNKR2_HUMAN	CNKSR2	HGNC	.	.	UPI0000070D72	SNV	CNKSR2,missense_variant,p.Val330Ile,ENST00000379510,;CNKSR2,missense_variant,p.Val330Ile,ENST00000425654,;CNKSR2,missense_variant,p.Val281Ile,ENST00000543067,;CNKSR2,missense_variant,p.Val330Ile,ENST00000279451,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000479158,;CNKSR2,upstream_gene_variant,,ENST00000485012,;	1024	95	178	SUCCESS
ARAF	369	.	GRCh37	X	47428285	47428285	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	26	53	0	ENST00000377045.4:c.1245G>T	p.Gln415His	p.Q415H	ENST00000377045	NM_001654.4	415	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS35232.1	1245	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGGCAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF43,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000366244	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000377045	Transcript	.	.	ENSG00000078061	646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ARAF_HUMAN	ARAF	HGNC	Q96II5_HUMAN	.	UPI0000000C41	SNV	ARAF,missense_variant,p.Gln415His,ENST00000377045,;ARAF,downstream_gene_variant,,ENST00000377039,;ARAF,downstream_gene_variant,,ENST00000290277,;SYN1,downstream_gene_variant,,ENST00000295987,;SYN1,downstream_gene_variant,,ENST00000340666,;ARAF,downstream_gene_variant,,ENST00000489496,;ARAF,upstream_gene_variant,,ENST00000469505,;ARAF,upstream_gene_variant,,ENST00000470206,;	1439	53	194	SUCCESS
AMER1	139285	.	GRCh37	X	63410708	63410708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	32	24	0	ENST00000330258.3:c.2459G>T	p.Gly820Val	p.G820V	ENST00000330258	NM_152424.3	820	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14377.2	2459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCCTTCC	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Gly820Val,ENST00000330258,;AMER1,intron_variant,,ENST00000374869,;AMER1,intron_variant,,ENST00000403336,;	2732	24	119	SUCCESS
ASB12	142689	.	GRCh37	X	63445128	63445128	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	14	91	0	ENST00000362002.2:c.403A>G	p.Ser135Gly	p.S135G	ENST00000362002	NM_130388.3	135	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS14378.2	403	MUTECT|MUSE	.	GATGCTACCAC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24120,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000355195	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362002	Transcript	.	.	ENSG00000198881	19763	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	ASB12_HUMAN	ASB12	HGNC	.	.	UPI000013DA93	SNV	ASB12,missense_variant,p.Ser126Gly,ENST00000396130,;MTMR8,missense_variant,p.Ser510Gly,ENST00000453546,;ASB12,missense_variant,p.Ser135Gly,ENST00000362002,;	596	91	199	SUCCESS
TAF1	6872	.	GRCh37	X	70680629	70680629	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	30	104	0	ENST00000373790.4:c.5372A>G	p.His1791Arg	p.H1791R	ENST00000373790	NM_004606.3	1791	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14412.1	5435	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATGGTT	NONE	.	.	PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	37/38	.	.	.	.	.	.	.	.	.	37/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.21)	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,missense_variant,p.His1791Arg,ENST00000373790,;TAF1,missense_variant,p.His1812Arg,ENST00000276072,;TAF1,missense_variant,p.His1814Arg,ENST00000423759,;TAF1,missense_variant,p.His1825Arg,ENST00000449580,;TAF1,non_coding_transcript_exon_variant,,ENST00000492404,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000461157,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000467309,;TAF1,non_coding_transcript_exon_variant,,ENST00000482544,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,missense_variant,p.His480Arg,ENST00000437147,;TAF1,missense_variant,p.His448Arg,ENST00000373775,;	5445	104	162	SUCCESS
CYLC1	1538	.	GRCh37	X	83128877	83128877	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	8	98	0	ENST00000329312.4:c.1161G>T	p.Leu387Phe	p.L387F	ENST00000329312	NM_021118.2	387	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS35341.1	1161	MUTECT|MUSE	.	AATTTGAAGAA	NONE	.	.	hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.05)	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Leu387Phe,ENST00000329312,;	1198	98	145	SUCCESS
CHM	1121	.	GRCh37	X	85218969	85218969	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	12	129	0	ENST00000357749.2:c.403G>C	p.Asp135His	p.D135H	ENST00000357749	NM_000390.2	135	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS14454.1	403	MUTECT|MUSE	.	AGAATCTGCAG	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000350386	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000357749	Transcript	.	.	ENSG00000188419	1940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.08)	.	RAE1_HUMAN	CHM	HGNC	B4DRL9_HUMAN	.	UPI0000049C8C	SNV	CHM,missense_variant,p.Asp135His,ENST00000357749,;CHM,5_prime_UTR_variant,,ENST00000537751,;CHM,intron_variant,,ENST00000467744,;	433	129	225	SUCCESS
TGIF2LX	90316	.	GRCh37	X	89177754	89177754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	441	70	177	0	ENST00000283891.5:c.670G>A	p.Ala224Thr	p.A224T	ENST00000283891	NM_138960.3	224	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14459.1	670	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGCAGTA	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	.	.	ENSP00000453704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000561129	Transcript	.	.	ENSG00000153779	18570	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	TF2LX_HUMAN	TGIF2LX	HGNC	.	.	UPI0000074793	SNV	TGIF2LX,missense_variant,p.Ala224Thr,ENST00000283891,;TGIF2LX,missense_variant,p.Ala224Thr,ENST00000561129,;	800	177	511	SUCCESS
DHX32	55760	.	GRCh37	10	127569442	127569442	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	24	0	ENST00000284690.3:c.-49A>T		p.*17*	ENST00000284690	NM_018180.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7652.1	.	RADIA|MUTECT|VARSCANS	.	GTTTCTCCTAT	NONE	.	.	.	.	.	ENSP00000284690	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,5_prime_UTR_variant,,ENST00000415732,;DHX32,5_prime_UTR_variant,,ENST00000284688,;DHX32,5_prime_UTR_variant,,ENST00000284690,;	443	24	15	SUCCESS
CUBN	8029	.	GRCh37	10	17130262	17130262	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	24	134	1	ENST00000377833.4:c.1848T>C	p.Cys616=	p.C616=	ENST00000377833	NM_001081.3	616	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS7113.1	1848	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACACAATC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	15/67	.	.	.	.	.	.	.	.	.	15/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,synonymous_variant,p.%3D,ENST00000377833,;	1914	135	119	SUCCESS
DIP2C	22982	.	GRCh37	10	436697	436697	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	156	0	ENST00000280886.6:c.1367A>T	p.Glu456Val	p.E456V	ENST00000280886	NM_014974.2	456	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7054.1	1367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCTCTCCC	NONE	.	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000280886	.	11/37	.	.	.	.	.	.	.	.	.	11/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,missense_variant,p.Glu349Val,ENST00000381496,;DIP2C,missense_variant,p.Glu456Val,ENST00000280886,;DIP2C,upstream_gene_variant,,ENST00000421992,;	1455	156	88	SUCCESS
RBP3	5949	.	GRCh37	10	48388579	48388579	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	103	0	ENST00000224600.4:c.2299C>T	p.Leu767=	p.L767=	ENST00000224600	NM_002900.2	767	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7218.1	2299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAGCCGCA	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,synonymous_variant,p.%3D,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	2413	103	94	SUCCESS
ZWINT	11130	.	GRCh37	10	58118598	58118598	+	synonymous_variant	Silent	SNP	C	C	T	rs1449243998	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	41	299	0	ENST00000373944.3:c.591G>A	p.Gln197=	p.Q197=	ENST00000373944		197	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS7249.1	591	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCTGCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31504:SF1,hmmpanther:PTHR31504,Pfam_domain:PF15556	.	.	ENSP00000363055	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000373944	Transcript	.	.	ENSG00000122952	13195	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZWINT_HUMAN	ZWINT	HGNC	A6NH27_HUMAN	.	UPI000013CB09	SNV	ZWINT,synonymous_variant,p.%3D,ENST00000395405,;ZWINT,synonymous_variant,p.%3D,ENST00000373944,;ZWINT,synonymous_variant,p.%3D,ENST00000318387,;ZWINT,intron_variant,,ENST00000361148,;ZWINT,non_coding_transcript_exon_variant,,ENST00000467523,;ZWINT,non_coding_transcript_exon_variant,,ENST00000460654,;ZWINT,intron_variant,,ENST00000478181,;ZWINT,non_coding_transcript_exon_variant,,ENST00000494312,;ZWINT,intron_variant,,ENST00000489649,;	630	299	232	SUCCESS
PFKFB3	5209	.	GRCh37	10	6258734	6258734	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	141	0	ENST00000379775.4:c.432T>C	p.Asn144=	p.N144=	ENST00000379775	NM_004566.3	144	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS7078.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATGACTT	BUFFER|p.K147R|c.440A>G|5,BUFFER|p.K127R|c.380A>G|5,BUFFER|p.K147R|c.440A>G|5	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.300,Pfam_domain:PF01591,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	.	.	ENSP00000369100	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,synonymous_variant,p.%3D,ENST00000540253,;PFKFB3,synonymous_variant,p.%3D,ENST00000379785,;PFKFB3,synonymous_variant,p.%3D,ENST00000317350,;PFKFB3,synonymous_variant,p.%3D,ENST00000536985,;PFKFB3,synonymous_variant,p.%3D,ENST00000379782,;PFKFB3,synonymous_variant,p.%3D,ENST00000360521,;PFKFB3,synonymous_variant,p.%3D,ENST00000379789,;PFKFB3,synonymous_variant,p.%3D,ENST00000379775,;PFKFB3,upstream_gene_variant,,ENST00000450232,;PFKFB3,synonymous_variant,p.%3D,ENST00000467491,;PFKFB3,synonymous_variant,p.%3D,ENST00000477914,;PFKFB3,synonymous_variant,p.%3D,ENST00000461744,;PFKFB3,synonymous_variant,p.%3D,ENST00000490474,;	762	141	73	SUCCESS
JMJD1C	221037	.	GRCh37	10	64966479	64966479	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	347	146	755	1	ENST00000399262.2:c.4950C>G	p.Tyr1650Ter	p.Y1650*	ENST00000399262	NM_032776.1	1650	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS41532.1	4950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGTAAGT	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,stop_gained,p.Tyr1431Ter,ENST00000399251,;JMJD1C,stop_gained,p.Tyr1650Ter,ENST00000399262,;JMJD1C,stop_gained,p.Tyr336Ter,ENST00000327520,;JMJD1C,stop_gained,p.Tyr1468Ter,ENST00000542921,;JMJD1C,stop_gained,p.Tyr1431Ter,ENST00000402544,;	5169	756	494	SUCCESS
KIF20B	9585	.	GRCh37	10	91474892	91474892	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	56	307	0	ENST00000371728.3:c.893A>G	p.Lys298Arg	p.K298R	ENST00000371728	NM_001284259.1	298	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7407.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAGATGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR23165,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260753	.	8/33	.	.	.	.	.	.	.	.	.	8/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,missense_variant,p.Lys298Arg,ENST00000371728,;KIF20B,missense_variant,p.Lys298Arg,ENST00000416354,;KIF20B,missense_variant,p.Lys298Arg,ENST00000260753,;KIF20B,missense_variant,p.Lys298Arg,ENST00000394289,;KIF20B,downstream_gene_variant,,ENST00000447580,;	965	307	161	SUCCESS
IDE	3416	.	GRCh37	10	94223595	94223595	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	382	66	664	0	ENST00000265986.6:c.2654A>T	p.His885Leu	p.H885L	ENST00000265986	NM_004969.3	885	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS7421.1	2654	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTGTTTT	NONE	.	.	Superfamily_domains:SSF63411,Pfam_domain:PF05193,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	.	.	ENSP00000265986	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,missense_variant,p.His330Leu,ENST00000371581,;IDE,missense_variant,p.His885Leu,ENST00000265986,;IDE,non_coding_transcript_exon_variant,,ENST00000496903,;	2711	664	448	SUCCESS
MYOF	26509	.	GRCh37	10	95123767	95123767	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770604304	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	52	0	ENST00000359263.4:c.2819G>A	p.Arg940His	p.R940H	ENST00000359263	NM_013451.3	940	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS41551.1	2819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGCGGCTC	NONE	byFrequency	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,SMART_domains:SM00693	.	.	ENSP00000352208	.	27/54	.	.	.	.	.	.	.	.	rs770604304	27/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,missense_variant,p.Arg940His,ENST00000371502,;MYOF,missense_variant,p.Arg927His,ENST00000358334,;MYOF,missense_variant,p.Arg940His,ENST00000371501,;MYOF,missense_variant,p.Arg940His,ENST00000359263,;MYOF,missense_variant,p.Arg315His,ENST00000463743,;	2819	52	43	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100792230	100792230	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	191	0	ENST00000298815.8:c.492T>C	p.Asp164=	p.D164=	ENST00000298815	NM_152432.2	164	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	.	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATACACA	NONE	.	.	hmmpanther:PTHR12552:SF3,hmmpanther:PTHR12552,Gene3D:1y2oA00,Superfamily_domains:SSF103657	.	.	ENSP00000298815	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000298815	Transcript	.	.	ENSG00000165895	26545	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG42_HUMAN	ARHGAP42	HGNC	H0YDU1_HUMAN	.	UPI00005778C9	SNV	ARHGAP42,synonymous_variant,p.%3D,ENST00000524892,;ARHGAP42,synonymous_variant,p.%3D,ENST00000298815,;ARHGAP42,synonymous_variant,p.%3D,ENST00000531183,;	495	191	120	SUCCESS
FDXACB1	91893	.	GRCh37	11	111746109	111746109	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1555161935	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	43	157	0	ENST00000260257.4:c.1412T>C	p.Ile471Thr	p.I471T	ENST00000260257	NM_138378.2	471	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS44729.1	1412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGATAACA	NONE	.	.	hmmpanther:PTHR11538,hmmpanther:PTHR11538:SF26	.	.	ENSP00000260257	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000260257	Transcript	.	.	ENSG00000255561	25110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.99)	.	FDXA1_HUMAN	FDXACB1	HGNC	B4DUU2_HUMAN	.	UPI00001C1EEE	SNV	FDXACB1,missense_variant,p.Ile322Thr,ENST00000542429,;FDXACB1,missense_variant,p.Ile382Thr,ENST00000528274,;FDXACB1,missense_variant,p.Ile471Thr,ENST00000260257,;C11orf1,upstream_gene_variant,,ENST00000528125,;ALG9,upstream_gene_variant,,ENST00000531154,;C11orf1,upstream_gene_variant,,ENST00000260276,;C11orf1,upstream_gene_variant,,ENST00000530799,;C11orf1,upstream_gene_variant,,ENST00000530214,;ALG9,upstream_gene_variant,,ENST00000398006,;ALG9,intron_variant,,ENST00000527377,;ALG9,intron_variant,,ENST00000526587,;ALG9,upstream_gene_variant,,ENST00000530723,;ALG9,upstream_gene_variant,,ENST00000529754,;ALG9,upstream_gene_variant,,ENST00000524386,;ALG9,upstream_gene_variant,,ENST00000524457,;ALG9,upstream_gene_variant,,ENST00000527883,;ALG9,upstream_gene_variant,,ENST00000527228,;ALG9,upstream_gene_variant,,ENST00000532374,;FDXACB1,3_prime_UTR_variant,,ENST00000531487,;ALG9,intron_variant,,ENST00000524880,;	1460	157	78	SUCCESS
ROBO4	54538	.	GRCh37	11	124767725	124767725	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	101	0	ENST00000306534.3:c.-34T>C		p.*12*	ENST00000306534	NM_019055.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8455.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCACTTTG	NONE	.	.	.	.	.	ENSP00000304945	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,5_prime_UTR_variant,,ENST00000306534,;ROBO4,5_prime_UTR_variant,,ENST00000533054,;ROBO4,non_coding_transcript_exon_variant,,ENST00000529941,;ROBO4,intron_variant,,ENST00000527279,;ROBO4,intron_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000533337,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000532216,;	453	101	64	SUCCESS
PKNOX2	63876	.	GRCh37	11	125237764	125237764	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	104	0	ENST00000298282.9:c.110C>T	p.Pro37Leu	p.P37L	ENST00000298282	NM_022062.2	37	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS41730.1	110	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCCTCCA	NONE	.	.	hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850	.	.	ENSP00000298282	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000298282	Transcript	.	.	ENSG00000165495	16714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.066)	.	tolerated_low_confidence(0.07)	.	PKNX2_HUMAN	PKNOX2	HGNC	H0YLX0_HUMAN,E9PRB6_HUMAN,E9PKL2_HUMAN,B7ZAF3_HUMAN	.	UPI000023271E	SNV	PKNOX2,missense_variant,p.Pro37Leu,ENST00000558705,;PKNOX2,missense_variant,p.Pro37Leu,ENST00000531212,;PKNOX2,missense_variant,p.Pro37Leu,ENST00000298282,;PKNOX2,missense_variant,p.Pro37Leu,ENST00000527238,;PKNOX2,intron_variant,,ENST00000542175,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000558729,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000561115,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000559662,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000557814,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000561298,;PKNOX2,intron_variant,,ENST00000532623,;	381	104	91	SUCCESS
CKAP5	9793	.	GRCh37	11	46804849	46804849	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	65	0	ENST00000529230.1:c.2224G>A	p.Ala742Thr	p.A742T	ENST00000529230		742	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31477.1	2224	RADIA|MUTECT|VARSCANS	.	TATGGCATTTG	NONE	.	.	hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000432768	.	18/44	.	.	.	.	.	.	.	.	.	18/44	PASS	ENST00000529230	Transcript	.	.	ENSG00000175216	28959	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.529)	.	deleterious(0)	.	CKAP5_HUMAN	CKAP5	HGNC	E9PQH5_HUMAN	.	UPI000013F21E	SNV	CKAP5,missense_variant,p.Ala742Thr,ENST00000415402,;CKAP5,missense_variant,p.Ala742Thr,ENST00000354558,;CKAP5,missense_variant,p.Ala742Thr,ENST00000312055,;CKAP5,missense_variant,p.Ala742Thr,ENST00000529230,;CKAP5,non_coding_transcript_exon_variant,,ENST00000528593,;	2271	65	49	SUCCESS
CPT1A	1374	.	GRCh37	11	68530229	68530229	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs201706909	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	44	0	ENST00000265641.5:c.1741G>T	p.Asp581Tyr	p.D581Y	ENST00000265641	NM_001876.3	581	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8185.1	1741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTCCTGGG	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF49,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000265641	.	15/19	.	.	.	.	.	.	.	.	rs201706909	15/19	PASS	ENST00000265641	Transcript	.	.	ENSG00000110090	2328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	CPT1A_HUMAN	CPT1A	HGNC	Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN	.	UPI000013D658	SNV	CPT1A,missense_variant,p.Asp581Tyr,ENST00000539743,;CPT1A,missense_variant,p.Asp581Tyr,ENST00000540367,;CPT1A,missense_variant,p.Asp581Tyr,ENST00000265641,;CPT1A,missense_variant,p.Asp581Tyr,ENST00000376618,;CPT1A,splice_region_variant,,ENST00000537756,;	1896	44	33	SUCCESS
DENND5A	23258	.	GRCh37	11	9202573	9202573	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	30	170	0	ENST00000328194.3:c.1196C>A	p.Pro399Gln	p.P399Q	ENST00000328194	NM_015213.3	399	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS31423.1	1196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGGCAAG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45	.	.	ENSP00000328524	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000328194	Transcript	.	.	ENSG00000184014	19344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEN5A_HUMAN	DENND5A	HGNC	B3KWN5_HUMAN	.	UPI00001C1F29	SNV	DENND5A,missense_variant,p.Pro399Gln,ENST00000328194,;DENND5A,missense_variant,p.Pro399Gln,ENST00000530044,;DENND5A,upstream_gene_variant,,ENST00000526523,;DENND5A,missense_variant,p.Pro375Gln,ENST00000526707,;DENND5A,upstream_gene_variant,,ENST00000530867,;DENND5A,upstream_gene_variant,,ENST00000527896,;	1517	170	142	SUCCESS
ANO4	121601	.	GRCh37	12	101365128	101365128	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	27	196	0	ENST00000392977.3:c.501C>T	p.Ala167=	p.A167=	ENST00000392977	NM_001286615.1	167	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31884.1	396	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCCCCATG	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,synonymous_variant,p.%3D,ENST00000538618,;ANO4,synonymous_variant,p.%3D,ENST00000392977,;ANO4,synonymous_variant,p.%3D,ENST00000392979,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,synonymous_variant,p.%3D,ENST00000549155,;	757	196	140	SUCCESS
C12orf42	374470	.	GRCh37	12	103696092	103696092	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1251170925	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	93	0	ENST00000378113.2:c.877C>T	p.Arg293Trp	p.R293W	ENST00000378113	NM_001278419.1	293	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44963.1	877	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCGGGG	NONE	.	.	Pfam_domain:PF15380	.	.	ENSP00000367353	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000378113	Transcript	.	.	ENSG00000179088	24729	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.898)	.	deleterious(0.02)	.	CL042_HUMAN	C12orf42	HGNC	F8W1Y6_HUMAN,F8VV63_HUMAN	.	UPI00001D7906	SNV	C12orf42,missense_variant,p.Arg293Trp,ENST00000378113,;C12orf42,missense_variant,p.Arg226Trp,ENST00000548048,;C12orf42,missense_variant,p.Arg293Trp,ENST00000548883,;C12orf42,intron_variant,,ENST00000315192,;C12orf42,downstream_gene_variant,,ENST00000552578,;C12orf42,intron_variant,,ENST00000546526,;C12orf42,intron_variant,,ENST00000550650,;C12orf42,intron_variant,,ENST00000552977,;C12orf42,downstream_gene_variant,,ENST00000548789,;C12orf42,3_prime_UTR_variant,,ENST00000551134,;C12orf42,intron_variant,,ENST00000547347,;	1103	93	62	SUCCESS
NOS1	4842	.	GRCh37	12	117710212	117710212	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	76	0	ENST00000317775.6:c.1817A>G	p.Asn606Ser	p.N606S	ENST00000317775	NM_000620.4	606	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS55890.1	1817	RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGTTGTCA	NONE	.	.	Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Gene3D:3.90.1230.10,Pfam_domain:PF02898,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.8)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Asn606Ser,ENST00000317775,;NOS1,missense_variant,p.Asn606Ser,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	1822	76	81	SUCCESS
OR6C74	254783	.	GRCh37	12	55641327	55641327	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772386317	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	61	228	0	ENST00000343870.4:c.256G>A	p.Gly86Ser	p.G86S	ENST00000343870	NM_001005490.1	86	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS31816.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGGTGAT	BUFFER|p.G86D|c.257G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342836	.	1/1	.	.	.	.	.	.	.	.	rs772386317	1/1	PASS	ENST00000343870	Transcript	.	.	ENSG00000197706	31303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	O6C74_HUMAN	OR6C74	HGNC	.	.	UPI000016150B	SNV	OR6C74,missense_variant,p.Gly86Ser,ENST00000343870,;	346	228	235	SUCCESS
AGAP2	116986	.	GRCh37	12	58131419	58131419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	33	0	ENST00000547588.1:c.611A>G	p.Lys204Arg	p.K204R	ENST00000547588	NM_001122772.2	204	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS44932.1	611	RADIA|VARSCANS	.	CGCCCTTGCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000449241	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.486)	.	deleterious_low_confidence(0.01)	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,missense_variant,p.Lys68Arg,ENST00000328568,;AGAP2,missense_variant,p.Lys204Arg,ENST00000547588,;AGAP2,intron_variant,,ENST00000257897,;TSPAN31,upstream_gene_variant,,ENST00000550528,;TSPAN31,upstream_gene_variant,,ENST00000553221,;TSPAN31,upstream_gene_variant,,ENST00000547311,;	611	33	43	SUCCESS
ANO2	57101	.	GRCh37	12	5936960	5936960	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	108	1	ENST00000356134.5:c.858C>T	p.Ala286=	p.A286=	ENST00000356134		286	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	.	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGGCTGT	NONE	.	.	hmmpanther:PTHR12308:SF20,hmmpanther:PTHR12308	.	.	ENSP00000314048	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000327087	Transcript	.	.	ENSG00000047617	1183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO2_HUMAN	ANO2	HGNC	Q69YW4_HUMAN	.	UPI0001823FDD	SNV	ANO2,synonymous_variant,p.%3D,ENST00000327087,;ANO2,synonymous_variant,p.%3D,ENST00000546188,;ANO2,synonymous_variant,p.%3D,ENST00000356134,;ANO2,downstream_gene_variant,,ENST00000544988,;	927	109	67	SUCCESS
MTMR6	9107	.	GRCh37	13	25823570	25823570	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	53	328	1	ENST00000381801.5:c.1666T>G	p.Ser556Ala	p.S556A	ENST00000381801	NM_004685.3	556	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS9313.1	1666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGAATGTA	NONE	.	.	hmmpanther:PTHR10807:SF34,hmmpanther:PTHR10807	.	.	ENSP00000371221	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000381801	Transcript	.	.	ENSG00000139505	7453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.47)	.	MTMR6_HUMAN	MTMR6	HGNC	Q8N5Q4_HUMAN	.	UPI00001FC8D0	SNV	MTMR6,missense_variant,p.Ser556Ala,ENST00000381801,;MTMR6,intron_variant,,ENST00000540661,;AL590787.1,downstream_gene_variant,,ENST00000408397,;	2428	330	217	SUCCESS
FAM194B	0	.	GRCh37	13	46135603	46135603	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	28	486	1	ENST00000298738.2:c.1308T>C	p.Pro436=	p.P436=	ENST00000298738	NM_182542.2	436	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS45045.1	1308	MUTECT|MUSE|VARSCANS	.	TTCTCAGGTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23093:SF12,hmmpanther:PTHR23093	.	.	ENSP00000298738	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000298738	Transcript	.	.	ENSG00000165837	26523	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F194B_HUMAN	FAM194B	HGNC	.	.	UPI000013E513	SNV	FAM194B,synonymous_variant,p.%3D,ENST00000298738,;FAM194B,downstream_gene_variant,,ENST00000378977,;	1473	487	320	SUCCESS
SLC15A1	6564	.	GRCh37	13	99371494	99371494	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	53	0	ENST00000376503.5:c.637C>T	p.Leu213=	p.L213=	ENST00000376503	NM_005073.3	213	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9489.1	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGGGCTA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00926,Pfam_domain:PF00854,hmmpanther:PTHR11654:SF89,hmmpanther:PTHR11654	.	.	ENSP00000365686	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000376503	Transcript	.	.	ENSG00000088386	10920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S15A1_HUMAN	SLC15A1	HGNC	B2CQT6_HUMAN	.	UPI000013166F	SNV	SLC15A1,synonymous_variant,p.%3D,ENST00000376503,;SLC15A1,downstream_gene_variant,,ENST00000376494,;	693	53	46	SUCCESS
CYP46A1	10858	.	GRCh37	14	100172868	100172868	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	19	0	ENST00000261835.3:c.444-116G>T		p.*148*	ENST00000261835	NM_006668.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9954.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGGAGGG	NONE	.	.	.	.	.	ENSP00000261835	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261835	Transcript	.	.	ENSG00000036530	2641	.	.	MODIFIER	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP46A_HUMAN	CYP46A1	HGNC	B4DHP8_HUMAN	.	UPI00001281DC	SNV	CYP46A1,5_prime_UTR_variant,,ENST00000554176,;CYP46A1,intron_variant,,ENST00000380228,;CYP46A1,intron_variant,,ENST00000423126,;CYP46A1,intron_variant,,ENST00000261835,;CYP46A1,intron_variant,,ENST00000554611,;	.	19	20	SUCCESS
ATG14	22863	.	GRCh37	14	55857663	55857663	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	25	276	0	ENST00000247178.5:c.375A>G	p.Gln125=	p.Q125=	ENST00000247178	NM_014924.4	125	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS32087.1	375	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTTTGTTT	NONE	.	.	hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0,Pfam_domain:PF10186	.	.	ENSP00000247178	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000247178	Transcript	.	.	ENSG00000126775	19962	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BAKOR_HUMAN	ATG14	HGNC	.	.	UPI00001FD5B2	SNV	ATG14,synonymous_variant,p.%3D,ENST00000247178,;ATG14,non_coding_transcript_exon_variant,,ENST00000558189,;RP11-454L9.2,downstream_gene_variant,,ENST00000559320,;	411	276	189	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72054832	72054832	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	121	1	ENST00000555818.1:c.243A>T	p.Ala81=	p.A81=	ENST00000555818	NM_015556.1	81	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9807.1	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCAGATTG	NONE	.	.	hmmpanther:PTHR15711:SF10,hmmpanther:PTHR15711	.	.	ENSP00000450832	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,synonymous_variant,p.%3D,ENST00000358550,;SIPA1L1,synonymous_variant,p.%3D,ENST00000381232,;SIPA1L1,synonymous_variant,p.%3D,ENST00000555818,;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;	591	122	87	SUCCESS
ATG2B	55102	.	GRCh37	14	96809512	96809512	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	12	291	0	ENST00000359933.4:c.688T>A	p.Trp230Arg	p.W230R	ENST00000359933	NM_018036.5	230	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS9944.2	688	MUTECT|MUSE	.	ATCCCAGAAGA	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.04)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Trp230Arg,ENST00000359933,;	1582	291	165	SUCCESS
DNM1P46	196968	.	GRCh37	15	100332658	100332658	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	80	0	ENST00000341853.1:n.1534G>A		p.*512*	ENST00000341853				0	.	.	.	.	.	T	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCTGGCC	NONE	.	74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408584	Transcript	.	.	ENSG00000221511	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC090825.1	Clone_based_ensembl_gene	.	.	.	SNV	AC090825.1,downstream_gene_variant,,ENST00000408584,;RN7SL484P,downstream_gene_variant,,ENST00000462651,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000561042,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000341853,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000559110,;CTD-2054N24.1,non_coding_transcript_exon_variant,,ENST00000557959,;	.	80	42	SUCCESS
DUOX2	50506	.	GRCh37	15	45403646	45403646	+	synonymous_variant	Silent	SNP	G	G	A	rs772839042	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	16	0	ENST00000603300.1:c.651C>T	p.Asn217=	p.N217=	ENST00000603300	NM_014080.4	217	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS10117.1	651	RADIA|MUTECT|MUSE	.	AGGGGGTTCTG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000475084	.	6/34	.	.	.	.	.	.	.	.	rs772839042	6/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,synonymous_variant,p.%3D,ENST00000389039,;DUOX2,synonymous_variant,p.%3D,ENST00000603300,;DUOXA2,upstream_gene_variant,,ENST00000323030,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOXA2,upstream_gene_variant,,ENST00000350243,;DUOXA2,upstream_gene_variant,,ENST00000491993,;	854	16	12	SUCCESS
BLOC1S6	26258	.	GRCh37	15	45884374	45884374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	128	1	ENST00000220531.3:c.124T>A	p.Leu42Met	p.L42M	ENST00000220531	NM_012388.2	42	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS10126.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTTGACT	NONE	.	.	PIRSF_domain:PIRSF037609,hmmpanther:PTHR31328	.	.	ENSP00000220531	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000220531	Transcript	1	.	ENSG00000104164	8549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated(0.16)	.	BL1S6_HUMAN	BLOC1S6	HGNC	H3BRA4_HUMAN,H3BN73_HUMAN	.	UPI000004A0B2	SNV	BLOC1S6,missense_variant,p.Leu47Met,ENST00000565323,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000220531,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000566753,;BLOC1S6,5_prime_UTR_variant,,ENST00000564765,;BLOC1S6,5_prime_UTR_variant,,ENST00000568816,;BLOC1S6,5_prime_UTR_variant,,ENST00000565409,;BLOC1S6,intron_variant,,ENST00000566801,;BLOC1S6,intron_variant,,ENST00000562384,;BLOC1S6,intron_variant,,ENST00000565216,;RP11-96O20.4,intron_variant,,ENST00000564080,;BLOC1S6,intron_variant,,ENST00000567461,;BLOC1S6,intron_variant,,ENST00000569076,;Y_RNA,downstream_gene_variant,,ENST00000363549,;BLOC1S6,non_coding_transcript_exon_variant,,ENST00000563160,;BLOC1S6,intron_variant,,ENST00000565727,;BLOC1S6,intron_variant,,ENST00000567740,;BLOC1S6,intron_variant,,ENST00000563000,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000567523,;BLOC1S6,missense_variant,p.Leu19Met,ENST00000564310,;BLOC1S6,missense_variant,p.Leu42Met,ENST00000568597,;BLOC1S6,intron_variant,,ENST00000566184,;BLOC1S6,intron_variant,,ENST00000568963,;	445	130	68	SUCCESS
RFX7	64864	.	GRCh37	15	56387953	56387953	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	236	1	ENST00000559447.2:c.1682A>G	p.Lys561Arg	p.K561R	ENST00000559447		561	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	.	1973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGTTTTCTT	NONE	.	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Lys658Arg,ENST00000423270,;RFX7,missense_variant,p.Lys561Arg,ENST00000559447,;RFX7,missense_variant,p.Lys658Arg,ENST00000317318,;RFX7,missense_variant,p.Lys561Arg,ENST00000422057,;RFX7,missense_variant,p.Lys561Arg,ENST00000559847,;	1973	237	146	SUCCESS
ANP32A	8125	.	GRCh37	15	69076893	69076893	+	synonymous_variant	Silent	SNP	G	G	A	rs757866606	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	53	384	2	ENST00000465139.2:c.369C>T	p.Cys123=	p.C123=	ENST00000465139	NM_006305.3	123	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS45292.1	369	RADIA|VARSCANS	.	ACCTCGCAATT	NONE	byFrequency	.	PROSITE_profiles:PS51450,hmmpanther:PTHR11375:SF1,hmmpanther:PTHR11375,Pfam_domain:PF14580,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000417864	.	4/7	.	.	.	.	.	.	.	.	rs757866606	4/7	PASS	ENST00000465139	Transcript	.	.	ENSG00000140350	13233	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AN32A_HUMAN	ANP32A	HGNC	Q08AJ6_HUMAN	.	UPI0000125027	SNV	ANP32A,synonymous_variant,p.%3D,ENST00000560303,;ANP32A,synonymous_variant,p.%3D,ENST00000465139,;ANP32A,non_coding_transcript_exon_variant,,ENST00000267918,;ANP32A,non_coding_transcript_exon_variant,,ENST00000483551,;ANP32A,downstream_gene_variant,,ENST00000495764,;ANP32A,3_prime_UTR_variant,,ENST00000409628,;ANP32A,non_coding_transcript_exon_variant,,ENST00000561430,;ANP32A,upstream_gene_variant,,ENST00000480858,;ANP32A,upstream_gene_variant,,ENST00000486054,;ANP32A,downstream_gene_variant,,ENST00000495420,;	513	387	231	SUCCESS
PTPN9	5780	.	GRCh37	15	75762179	75762180	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	80	0	ENST00000306726.2:c.1520_1521del	p.Pro507ArgfsTer35	p.P507Rfs*35	ENST00000306726	NM_002833.2	507	cCT/c	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10280.1	1520-1521	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCTCAGGGCAC	NONE	.	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF194,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000303554	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000306726	Transcript	.	.	ENSG00000169410	9661	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTN9_HUMAN	PTPN9	HGNC	.	.	UPI0000000CAC	deletion	PTPN9,frameshift_variant,p.Pro507ArgfsTer35,ENST00000306726,;PTPN9,non_coding_transcript_exon_variant,,ENST00000563835,;PTPN9,non_coding_transcript_exon_variant,,ENST00000568108,;	2033-2034	80	109	SUCCESS
RCN2	5955	.	GRCh37	15	77227917	77227917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	124	0	ENST00000394885.3:c.301G>A	p.Glu101Lys	p.E101K	ENST00000394885	NM_002902.2	101	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10291.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAGAAGCA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF32,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000378349	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000394885	Transcript	.	.	ENSG00000117906	9935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0.03)	.	RCN2_HUMAN	RCN2	HGNC	.	.	UPI0000000C65	SNV	RCN2,missense_variant,p.Glu101Lys,ENST00000320963,;RCN2,missense_variant,p.Glu101Lys,ENST00000394885,;RCN2,intron_variant,,ENST00000394883,;RCN2,missense_variant,p.Glu92Lys,ENST00000557805,;	524	124	73	SUCCESS
FAM169B	283777	.	GRCh37	15	99023985	99023985	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	164	1	ENST00000558256.1:c.28G>C	p.Val10Leu	p.V10L	ENST00000558256	NM_182562.2	10	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS45360.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAACCCTTT	NONE	.	.	hmmpanther:PTHR22442:SF4,hmmpanther:PTHR22442	.	.	ENSP00000453554	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000558256	Transcript	.	.	ENSG00000185087	26835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.01)	.	F169B_HUMAN	FAM169B	HGNC	.	.	UPI0000199E5A	SNV	FAM169B,missense_variant,p.Val10Leu,ENST00000332908,;FAM169B,missense_variant,p.Val10Leu,ENST00000558256,;	278	165	96	SUCCESS
KIAA0556	0	.	GRCh37	16	27761333	27761333	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	112	0	ENST00000261588.4:c.3052A>G	p.Ile1018Val	p.I1018V	ENST00000261588	NM_015202.2	1018	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32415.1	3052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGATATCAAT	NONE	.	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534,Pfam_domain:PF14652,Pfam_domain:PF14652	.	.	ENSP00000261588	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.03)	.	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,missense_variant,p.Ile1018Val,ENST00000261588,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;	3071	112	71	SUCCESS
FUS	2521	.	GRCh37	16	31201608	31201608	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs886051936	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	26	253	1	ENST00000254108.7:c.1181G>T	p.Arg394Leu	p.R394L	ENST00000254108	NM_004960.3	394	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS10707.1	1181	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF5,hmmpanther:PTHR23238	.	.	ENSP00000254108	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000254108	Transcript	.	.	ENSG00000089280	4010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.077)	.	tolerated(0.25)	.	FUS_HUMAN	FUS	HGNC	Q6IBQ5_HUMAN	.	UPI000012AD9A	SNV	FUS,missense_variant,p.Arg393Leu,ENST00000380244,;FUS,missense_variant,p.Arg394Leu,ENST00000254108,;FUS,missense_variant,p.Arg395Leu,ENST00000568685,;FUS,non_coding_transcript_exon_variant,,ENST00000474990,;FUS,3_prime_UTR_variant,,ENST00000566605,;FUS,non_coding_transcript_exon_variant,,ENST00000487509,;FUS,non_coding_transcript_exon_variant,,ENST00000569760,;FUS,downstream_gene_variant,,ENST00000568901,;FUS,downstream_gene_variant,,ENST00000564766,;FUS,upstream_gene_variant,,ENST00000483853,;FUS,downstream_gene_variant,,ENST00000570090,;	1286	254	145	SUCCESS
FTO	79068	.	GRCh37	16	53878098	53878098	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs886052103	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	30	274	0	ENST00000471389.1:c.783T>A	p.His261Gln	p.H261Q	ENST00000471389	NM_001080432.2	261	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS32448.1	783	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCATCTCGA	NONE	.	.	hmmpanther:PTHR31291,hmmpanther:PTHR31291:SF2,Pfam_domain:PF12933	.	.	ENSP00000418823	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000471389	Transcript	.	.	ENSG00000140718	24678	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.65)	.	FTO_HUMAN	FTO	HGNC	B4DHN4_HUMAN	.	UPI000013D7B3	SNV	FTO,missense_variant,p.His261Gln,ENST00000471389,;FTO,5_prime_UTR_variant,,ENST00000394647,;FTO,missense_variant,p.Ile52Asn,ENST00000464071,;	1005	274	181	SUCCESS
CES3	23491	.	GRCh37	16	67006590	67006590	+	synonymous_variant	Silent	SNP	G	G	A	rs377447761	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	86	0	ENST00000303334.4:c.1461G>A	p.Glu487=	p.E487=	ENST00000303334	NM_024922.5	487	gaG/gaA	0	A:0.0002	.	.	.	.	A	E	protein_coding	YES	CCDS10826.1	1461	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACAGAGGAGGA	NONE	byCluster	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF163	.	A:0	ENSP00000304782	.	12/13	.	.	.	.	.	.	.	.	rs377447761	12/13	PASS	ENST00000303334	Transcript	.	.	ENSG00000172828	1865	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EST3_HUMAN	CES3	HGNC	.	.	UPI0000047824	SNV	CES3,synonymous_variant,p.%3D,ENST00000543856,;CES3,synonymous_variant,p.%3D,ENST00000394037,;CES3,synonymous_variant,p.%3D,ENST00000303334,;CES3,3_prime_UTR_variant,,ENST00000570236,;	1532	86	61	SUCCESS
MYH1	4619	.	GRCh37	17	10404577	10404577	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	43	242	1	ENST00000226207.5:c.3588G>A	p.Leu1196=	p.L1196=	ENST00000226207	NM_005963.3	1196	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11155.1	3588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCAGGGT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576	.	.	ENSP00000226207	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3683	243	161	SUCCESS
DNAH9	1770	.	GRCh37	17	11786904	11786904	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	77	1	ENST00000262442.4:c.10808C>A	p.Ser3603Tyr	p.S3603Y	ENST00000262442	NM_001372.3	3603	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS11160.1	10808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCCGATC	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000262442	.	56/69	.	.	.	.	.	.	.	.	.	56/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Ser3603Tyr,ENST00000454412,;DNAH9,missense_variant,p.Ser3603Tyr,ENST00000262442,;DNAH9,splice_region_variant,,ENST00000608377,;DNAH9,downstream_gene_variant,,ENST00000579703,;DNAH9,splice_region_variant,,ENST00000396001,;DNAH9,downstream_gene_variant,,ENST00000580255,;DNAH9,upstream_gene_variant,,ENST00000581682,;	10876	78	68	SUCCESS
ARHGAP44	9912	.	GRCh37	17	12819314	12819314	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	139	0	ENST00000379672.5:c.373T>A	p.Phe125Ile	p.F125I	ENST00000379672	NM_014859.4	125	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS45616.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTTTTTG	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000368994	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000379672	Transcript	.	.	ENSG00000006740	29096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	tolerated(0.37)	.	RHG44_HUMAN	ARHGAP44	HGNC	J3QQU7_HUMAN	.	UPI0000252116	SNV	ARHGAP44,missense_variant,p.Phe125Ile,ENST00000340825,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000379672,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000262444,;MIR1269B,downstream_gene_variant,,ENST00000580405,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000544416,;ARHGAP44,missense_variant,p.Phe125Ile,ENST00000580768,;ARHGAP44,non_coding_transcript_exon_variant,,ENST00000578442,;	673	139	86	SUCCESS
CLUH	23277	.	GRCh37	17	2604781	2604781	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1478311187	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	67	0	ENST00000435359.1:c.664G>A	p.Gly222Arg	p.G222R	ENST00000435359	NM_015229.3	222	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS45572.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCGCTCA	NONE	.	.	HAMAP:MF_03013,hmmpanther:PTHR12601,hmmpanther:PTHR12601:SF10,Superfamily_domains:0049393	.	.	ENSP00000458986	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000570628	Transcript	.	.	ENSG00000132361	29094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0.01)	.	CLU_HUMAN	CLUH	HGNC	I3L3A3_HUMAN,I3L350_HUMAN,I3L318_HUMAN	.	UPI00004C8042	SNV	CLUH,missense_variant,p.Gly222Arg,ENST00000435359,;CLUH,missense_variant,p.Gly163Arg,ENST00000575014,;CLUH,missense_variant,p.Gly260Arg,ENST00000574426,;CLUH,missense_variant,p.Gly222Arg,ENST00000538975,;CLUH,missense_variant,p.Gly222Arg,ENST00000570628,;CLUH,downstream_gene_variant,,ENST00000576885,;CLUH,downstream_gene_variant,,ENST00000571566,;CLUH,downstream_gene_variant,,ENST00000576309,;CLUH,upstream_gene_variant,,ENST00000572129,;CLUH,upstream_gene_variant,,ENST00000571539,;	770	67	47	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43552916	43552916	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	155	0	ENST00000430334.3:c.473C>A	p.Ala158Asp	p.A158D	ENST00000430334	NM_014798.2	158	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS32671.1	473	MUTECT|MUSE	.	CCTCAGCATCC	NONE	.	.	PROSITE_profiles:PS50826,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343	.	.	ENSP00000389913	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000430334	Transcript	.	.	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.895)	.	deleterious(0.01)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Ala91Asp,ENST00000589780,;PLEKHM1,missense_variant,p.Ala28Asp,ENST00000584420,;PLEKHM1,missense_variant,p.Ala69Asp,ENST00000421073,;PLEKHM1,missense_variant,p.Ala158Asp,ENST00000430334,;RN7SL730P,upstream_gene_variant,,ENST00000583727,;PLEKHM1,intron_variant,,ENST00000582119,;PLEKHM1,downstream_gene_variant,,ENST00000586562,;PLEKHM1,missense_variant,p.Ala158Asp,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,downstream_gene_variant,,ENST00000586084,;PLEKHM1,downstream_gene_variant,,ENST00000581932,;	607	155	100	SUCCESS
TMEM102	284114	.	GRCh37	17	7339378	7339378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	48	121	0	ENST00000323206.1:c.188C>T	p.Ala63Val	p.A63V	ENST00000323206	NM_178518.2	63	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11104.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCCAAGG	NONE	.	.	hmmpanther:PTHR10656:SF11,hmmpanther:PTHR10656	.	.	ENSP00000315387	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000323206	Transcript	.	.	ENSG00000181284	26722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	TM102_HUMAN	TMEM102	HGNC	.	.	UPI000000DB5A	SNV	TMEM102,missense_variant,p.Ala63Val,ENST00000396568,;TMEM102,missense_variant,p.Ala63Val,ENST00000323206,;FGF11,upstream_gene_variant,,ENST00000575235,;FGF11,upstream_gene_variant,,ENST00000575082,;FGF11,upstream_gene_variant,,ENST00000293829,;FGF11,upstream_gene_variant,,ENST00000575398,;FGF11,upstream_gene_variant,,ENST00000572907,;RP11-104H15.9,downstream_gene_variant,,ENST00000570444,;RP11-104H15.8,downstream_gene_variant,,ENST00000576615,;RP11-104H15.7,intron_variant,,ENST00000575310,;RP11-104H15.10,upstream_gene_variant,,ENST00000575331,;FGF11,upstream_gene_variant,,ENST00000576328,;	461	121	135	SUCCESS
ALOXE3	59344	.	GRCh37	17	8021805	8021805	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	18	0	ENST00000448843.2:c.-315A>G		p.X105_splice	ENST00000448843	NM_021628.2	105		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54084.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGCATT	NONE	.	.	.	.	.	ENSP00000314879	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318227	Transcript	.	.	ENSG00000179148	13743	.	.	MODIFIER	1/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOXE3_HUMAN	ALOXE3	HGNC	.	.	UPI0000EE63AA	SNV	ALOXE3,splice_region_variant,,ENST00000448843,;ALOXE3,5_prime_UTR_variant,,ENST00000380149,;ALOXE3,intron_variant,,ENST00000318227,;HES7,downstream_gene_variant,,ENST00000317814,;HES7,downstream_gene_variant,,ENST00000577735,;HES7,downstream_gene_variant,,ENST00000541682,;	.	18	16	SUCCESS
ZNF519	162655	.	GRCh37	18	14105690	14105690	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	112	0	ENST00000590202.1:c.849G>A	p.Gln283=	p.Q283=	ENST00000590202	NM_145287.3	283	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS32797.1	849	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTGATG	NONE	.	.	hmmpanther:PTHR24384:SF97,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000464872	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000590202	Transcript	.	.	ENSG00000175322	30574	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN519_HUMAN	ZNF519	HGNC	.	.	UPI0000201A41	SNV	ZNF519,synonymous_variant,p.%3D,ENST00000590202,;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,intron_variant,,ENST00000587419,;	1002	112	40	SUCCESS
SMCHD1	23347	.	GRCh37	18	2795979	2795979	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	74	325	1	ENST00000320876.6:c.5752A>T	p.Lys1918Ter	p.K1918*	ENST00000320876	NM_015295.2	1918	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS45822.1	5752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCAAACTA	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,stop_gained,p.Lys1918Ter,ENST00000320876,;SMCHD1,upstream_gene_variant,,ENST00000583800,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,3_prime_UTR_variant,,ENST00000577880,;	6090	326	263	SUCCESS
DSG4	147409	.	GRCh37	18	28956907	28956907	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	47	196	1	ENST00000308128.4:c.33T>C	p.Leu11=	p.L11=	ENST00000308128	NM_177986.3	11	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS45845.1	33	RADIA|SOMATICSNIPER|VARSCANS	.	TGCCTTTTGAT	BUFFER|p.L11P|c.32T>C|3	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10	.	.	ENSP00000352785	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000359747	Transcript	.	.	ENSG00000175065	21307	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DSG4_HUMAN	DSG4	HGNC	.	.	UPI000035DB4E	SNV	DSG4,synonymous_variant,p.%3D,ENST00000308128,;DSG4,synonymous_variant,p.%3D,ENST00000359747,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;	62	198	130	SUCCESS
LPIN2	9663	.	GRCh37	18	2925247	2925247	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	44	278	0	ENST00000261596.4:c.1913C>G	p.Ser638Cys	p.S638C	ENST00000261596	NM_014646.2	638	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS11829.1	1913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGACTTC	NONE	.	.	hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11	.	.	ENSP00000261596	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000261596	Transcript	.	.	ENSG00000101577	14450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,missense_variant,p.Ser638Cys,ENST00000261596,;RP11-737O24.5,downstream_gene_variant,,ENST00000608032,;	2152	278	159	SUCCESS
ASXL3	80816	.	GRCh37	18	31314285	31314285	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	49	335	2	ENST00000269197.5:c.988C>T	p.Pro330Ser	p.P330S	ENST00000269197	NM_030632.1	330	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45847.1	988	RADIA|VARSCANS	.	TTACCCCAGAA	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578,Pfam_domain:PF13919	.	.	ENSP00000269197	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Pro330Ser,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	988	337	185	SUCCESS
DSEL	92126	.	GRCh37	18	65180960	65180960	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778536579	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	141	0	ENST00000310045.7:c.916C>T	p.Arg306Cys	p.R306C	ENST00000310045	NM_032160.2	306	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11995.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGCTGGG	NONE	.	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	rs778536579,COSM1389560	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Arg306Cys,ENST00000310045,;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	2390	141	99	SUCCESS
SMARCA4	6597	.	GRCh37	19	11141502	11141502	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	44	1	ENST00000344626.4:c.3479G>A	p.Gly1160Glu	p.G1160E	ENST00000344626	NM_003072.3	1160	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12253.1	3479	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGGGGGCTCG	BUFFER|p.R1157W|c.3469C>T|4	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51194	.	.	ENSP00000395654	.	26/36	.	.	.	.	.	.	.	.	.	26/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Gly1160Glu,ENST00000450717,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000358026,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000413806,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000444061,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000541122,;SMARCA4,missense_variant,p.Gly5Glu,ENST00000592158,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000590574,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000344626,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000589677,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,upstream_gene_variant,,ENST00000586892,;	3760	45	46	SUCCESS
SLC1A6	6511	.	GRCh37	19	15063807	15063807	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	141	0	ENST00000221742.3:c.1432A>G	p.Ile478Val	p.I478V	ENST00000221742	NM_005071.2	478	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS12321.1	1432	RADIA|MUTECT|MUSE|VARSCANS	.	CACAATGACCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221,Prints_domain:PR00173	.	.	ENSP00000221742	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.726)	.	deleterious(0)	.	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,missense_variant,p.Ile400Val,ENST00000600144,;SLC1A6,missense_variant,p.Ile478Val,ENST00000221742,;SLC1A6,missense_variant,p.Ile414Val,ENST00000430939,;	1440	141	178	SUCCESS
BRD4	23476	.	GRCh37	19	15376412	15376412	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	37	309	0	ENST00000263377.2:c.602A>C	p.Gln201Pro	p.Q201P	ENST00000263377	NM_058243.2	201	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS12328.1	602	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTTGAGTT	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143,Low_complexity_(Seg):seg	.	.	ENSP00000263377	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,missense_variant,p.Gln201Pro,ENST00000594841,;BRD4,missense_variant,p.Gln201Pro,ENST00000371835,;BRD4,missense_variant,p.Gln201Pro,ENST00000263377,;BRD4,missense_variant,p.Gln201Pro,ENST00000360016,;BRD4,downstream_gene_variant,,ENST00000601941,;BRD4,downstream_gene_variant,,ENST00000601071,;BRD4,upstream_gene_variant,,ENST00000602230,;BRD4,downstream_gene_variant,,ENST00000597315,;	824	309	285	SUCCESS
ZNF100	163227	.	GRCh37	19	21910792	21910792	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	105	0	ENST00000358296.6:c.323-1G>C		p.X108_splice	ENST00000358296	NM_173531.3	108		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42538.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TATAACTGAAA	NONE	.	.	.	.	.	ENSP00000351042	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358296	Transcript	.	.	ENSG00000197020	12880	.	.	HIGH	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN100_HUMAN	ZNF100	HGNC	Q6MZN6_HUMAN	.	UPI00001614AC	SNV	ZNF100,splice_acceptor_variant,,ENST00000594401,;ZNF100,splice_acceptor_variant,,ENST00000305570,;ZNF100,splice_acceptor_variant,,ENST00000358296,;	.	105	71	SUCCESS
ZNF208	7757	.	GRCh37	19	22154328	22154328	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1470707486	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	22	0	ENST00000397126.4:c.3508A>G	p.Lys1170Glu	p.K1170E	ENST00000397126	NM_007153.3	1170	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS54240.1	3508	RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTGTAGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.24)	.	tolerated(0.33)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Lys1170Glu,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	3657	22	23	SUCCESS
ZNF728	388523	.	GRCh37	19	23159320	23159320	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	17	41	0	ENST00000594710.1:c.819A>G	p.Glu273=	p.E273=	ENST00000594710	NM_001267716.1	273	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS59370.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGTTCAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF153,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471593	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000594710	Transcript	.	.	ENSG00000269067	32463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN728_HUMAN	ZNF728	HGNC	.	.	UPI0002656E4B	SNV	ZNF728,synonymous_variant,p.%3D,ENST00000594710,;ZNF728,downstream_gene_variant,,ENST00000599851,;	965	41	30	SUCCESS
ZNF681	148213	.	GRCh37	19	23926971	23926971	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	66	0	ENST00000395385.3:c.1174C>G	p.Gln392Glu	p.Q392E	ENST00000395385		392	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS12414.2	1381	RADIA|MUSE|VARSCANS	.	GAACTGGTTAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.25)	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,missense_variant,p.Gln392Glu,ENST00000395385,;ZNF681,missense_variant,p.Gln461Glu,ENST00000402377,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	1523	66	64	SUCCESS
ZNF681	148213	.	GRCh37	19	23927977	23927977	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	137	0	ENST00000395385.3:c.168A>T	p.Gly56=	p.G56=	ENST00000395385		56	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12414.2	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCTCCTTT	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,synonymous_variant,p.%3D,ENST00000395385,;ZNF681,synonymous_variant,p.%3D,ENST00000528059,;ZNF681,synonymous_variant,p.%3D,ENST00000531570,;ZNF681,synonymous_variant,p.%3D,ENST00000402377,;	517	137	107	SUCCESS
C2CD4C	126567	.	GRCh37	19	408227	408227	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	17	252	1	ENST00000332235.6:c.135C>G	p.Asp45Glu	p.D45E	ENST00000332235	NM_001136263.1	45	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS45890.1	135	MUTECT|MUSE	.	ATCTTGTCGGG	NONE	.	.	hmmpanther:PTHR10024:SF116,hmmpanther:PTHR10024	.	.	ENSP00000328677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332235	Transcript	.	.	ENSG00000183186	29417	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.326)	.	tolerated(0.09)	.	C2C4C_HUMAN	C2CD4C	HGNC	.	.	UPI00001C2016	SNV	C2CD4C,missense_variant,p.Asp45Glu,ENST00000332235,;	309	253	219	SUCCESS
PSG1	5669	.	GRCh37	19	43382236	43382236	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1058661	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	34	250	1	ENST00000436291.2:c.259G>C	p.Glu87Gln	p.E87Q	ENST00000436291	NM_001184826.1	87	Gaa/Caa	0	.	T:0	.	T:0	.	G	E/Q	protein_coding	YES	CCDS12612.1	259	RADIA|MUSE|VARSCANS	.	TATTTCACCGT	NONE	byFrequency|suspect|byCluster|by1000G	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF114,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0.001	.	ENSP00000244296	T:0	2/5	.	.	.	.	.	.	.	.	rs1058661	2/5	common_in_exac	ENST00000244296	Transcript	.	T:0.0006	ENSG00000231924	9514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	T:0.002	tolerated(1)	.	PSG1_HUMAN	PSG1	HGNC	Q9UMI0_HUMAN,M0QY44_HUMAN	.	UPI0000001071	SNV	PSG1,missense_variant,p.Glu87Gln,ENST00000244296,;PSG1,missense_variant,p.Glu87Gln,ENST00000595356,;PSG1,missense_variant,p.Glu87Gln,ENST00000312439,;PSG1,missense_variant,p.Glu8Gln,ENST00000597058,;PSG1,missense_variant,p.Glu87Gln,ENST00000436291,;PSG1,missense_variant,p.Glu87Gln,ENST00000595124,;PSG1,missense_variant,p.Glu16Gln,ENST00000595930,;PSG1,missense_variant,p.Glu87Gln,ENST00000403380,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;	397	251	178	SUCCESS
CHAF1A	10036	.	GRCh37	19	4408946	4408946	+	synonymous_variant	Silent	SNP	C	C	T	rs756494953	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	13	89	0	ENST00000301280.5:c.150C>T	p.Ala50=	p.A50=	ENST00000301280	NM_005483.2	50	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS32875.1	150	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCGATGA	NONE	byFrequency	.	hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0,Pfam_domain:PF15557	.	.	ENSP00000301280	.	3/15	.	.	.	.	.	.	.	.	rs756494953	3/15	PASS	ENST00000301280	Transcript	.	.	ENSG00000167670	1910	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAF1A_HUMAN	CHAF1A	HGNC	.	.	UPI00002030F8	SNV	CHAF1A,synonymous_variant,p.%3D,ENST00000301280,;CHAF1A,synonymous_variant,p.%3D,ENST00000585854,;CHAF1A,upstream_gene_variant,,ENST00000587739,;CHAF1A,non_coding_transcript_exon_variant,,ENST00000587580,;	251	89	115	SUCCESS
ZNF284	342909	.	GRCh37	19	44590091	44590091	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	7	114	0	ENST00000421176.3:c.460A>C	p.Lys154Gln	p.K154Q	ENST00000421176	NM_001037813.2	154	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS46099.1	460	MUTECT|MUSE|VARSCANS	.	GTAAAAAATTC	NONE	.	.	hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2,Superfamily_domains:SSF57667	.	.	ENSP00000411032	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421176	Transcript	.	.	ENSG00000186026	13078	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.57)	.	ZN284_HUMAN	ZNF284	HGNC	.	.	UPI00005788EA	SNV	ZNF284,missense_variant,p.Lys154Gln,ENST00000421176,;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;	676	114	87	SUCCESS
ZNF285	26974	.	GRCh37	19	44890916	44890916	+	synonymous_variant	Silent	SNP	T	T	C	rs548413151	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	106	268	0	ENST00000330997.4:c.1491A>G	p.Ser497=	p.S497=	ENST00000330997	NM_152354.3	497	tcA/tcG	0	.	C:0.0008	.	C:0	.	C	S	protein_coding	YES	CCDS12638.1	1491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATGAACT	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF173,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	C:0	.	ENSP00000333595	C:0	4/4	.	.	.	.	.	.	.	.	rs548413151	4/4	PASS	ENST00000330997	Transcript	.	C:0.0002	ENSG00000267508	13079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	ZN285_HUMAN	ZNF285	HGNC	K7ERT5_HUMAN	.	UPI0000456CDE	SNV	ZNF285,synonymous_variant,p.%3D,ENST00000591679,;ZNF285,synonymous_variant,p.%3D,ENST00000544719,;ZNF285,synonymous_variant,p.%3D,ENST00000330997,;CTC-512J12.6,intron_variant,,ENST00000588212,;ZNF285,downstream_gene_variant,,ENST00000585868,;ZNF285,downstream_gene_variant,,ENST00000589738,;	1556	269	198	SUCCESS
PGLYRP1	8993	.	GRCh37	19	46525997	46525997	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	17	233	0	ENST00000008938.4:c.283T>A	p.Tyr95Asn	p.Y95N	ENST00000008938	NM_005091.2	95	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS12680.1	283	MUTECT|MUSE	.	CTTGTAGCCCA	NONE	.	.	Superfamily_domains:SSF55846,SMART_domains:SM00701,PIRSF_domain:PIRSF037945,SMART_domains:SM00644,Pfam_domain:PF01510,Gene3D:3.40.80.10,hmmpanther:PTHR11022:SF32,hmmpanther:PTHR11022	.	.	ENSP00000008938	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000008938	Transcript	.	.	ENSG00000008438	8904	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PGRP1_HUMAN	PGLYRP1	HGNC	.	.	UPI0000131870	SNV	PGLYRP1,missense_variant,p.Tyr95Asn,ENST00000008938,;CCDC61,downstream_gene_variant,,ENST00000536603,;CCDC61,downstream_gene_variant,,ENST00000594087,;CCDC61,downstream_gene_variant,,ENST00000263284,;CCDC61,downstream_gene_variant,,ENST00000595358,;MIR769,downstream_gene_variant,,ENST00000390225,;CTC-344H19.4,upstream_gene_variant,,ENST00000595955,;CCDC61,downstream_gene_variant,,ENST00000601763,;	327	233	242	SUCCESS
SLC6A16	28968	.	GRCh37	19	49814654	49814654	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	40	0	ENST00000335875.4:c.-50A>G		p.*17*	ENST00000335875	NM_014037.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42590.1	.	RADIA|VARSCANS	.	GTTCATCTTCC	NONE	.	.	.	.	.	ENSP00000338627	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000335875	Transcript	.	.	ENSG00000063127	13622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S6A16_HUMAN	SLC6A16	HGNC	M0QYK3_HUMAN	.	UPI00001305CE	SNV	SLC6A16,5_prime_UTR_variant,,ENST00000454748,;SLC6A16,5_prime_UTR_variant,,ENST00000335875,;SLC6A16,intron_variant,,ENST00000598828,;SLC6A16,upstream_gene_variant,,ENST00000594917,;SLC6A16,upstream_gene_variant,,ENST00000594180,;SLC6A16,upstream_gene_variant,,ENST00000597969,;MIR4324,upstream_gene_variant,,ENST00000584846,;SLC6A16,intron_variant,,ENST00000598221,;	193	40	36	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49956570	49956570	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	40	0	ENST00000293350.4:c.-17del		p.*6*	ENST00000293350	NM_153329.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12766.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGCGGAAAGCG	NONE	.	.	.	.	.	ENSP00000293350	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	deletion	ALDH16A1,5_prime_UTR_variant,,ENST00000293350,;ALDH16A1,5_prime_UTR_variant,,ENST00000540132,;ALDH16A1,5_prime_UTR_variant,,ENST00000455361,;PIH1D1,5_prime_UTR_variant,,ENST00000597415,;ALDH16A1,5_prime_UTR_variant,,ENST00000433981,;PIH1D1,intron_variant,,ENST00000596049,;PIH1D1,intron_variant,,ENST00000601825,;PIH1D1,intron_variant,,ENST00000599366,;PIH1D1,upstream_gene_variant,,ENST00000601807,;PIH1D1,upstream_gene_variant,,ENST00000595550,;PIH1D1,upstream_gene_variant,,ENST00000600875,;PIH1D1,upstream_gene_variant,,ENST00000262265,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000598015,;ALDH16A1,5_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;PIH1D1,upstream_gene_variant,,ENST00000601053,;PIH1D1,upstream_gene_variant,,ENST00000593629,;PIH1D1,upstream_gene_variant,,ENST00000595516,;PIH1D1,upstream_gene_variant,,ENST00000595074,;PIH1D1,upstream_gene_variant,,ENST00000598889,;PIH1D1,upstream_gene_variant,,ENST00000593900,;PIH1D1,upstream_gene_variant,,ENST00000596651,;PIH1D1,upstream_gene_variant,,ENST00000596916,;PIH1D1,upstream_gene_variant,,ENST00000599791,;	145	40	65	SUCCESS
SIGLEC9	27180	.	GRCh37	19	51633303	51633303	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781328563	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	56	111	0	ENST00000250360.3:c.1359C>A	p.Asp453Glu	p.D453E	ENST00000250360	NM_014441.2	453	gaC/gaA	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56100.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGACACCGA	NONE	.	.	.	.	.	ENSP00000413861	.	.	.	.	.	.	.	.	.	.	rs781328563	.	PASS	ENST00000440804	Transcript	.	.	ENSG00000129450	10878	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SIGLEC9	HGNC	.	.	UPI00017A75A8	SNV	SIGLEC9,missense_variant,p.Asp453Glu,ENST00000250360,;SIGLEC9,intron_variant,,ENST00000440804,;SIGLEC9,downstream_gene_variant,,ENST00000599948,;	.	111	105	SUCCESS
LILRA1	11024	.	GRCh37	19	55106781	55106781	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	270	58	418	0	ENST00000251372.3:c.575G>A	p.Arg192Lys	p.R192K	ENST00000251372	NM_006863.3	192	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS12901.1	575	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGGTGGT	BUFFER|p.R191C|c.571C>T|3	.	.	hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251372	.	5/10	.	.	.	.	.	.	.	.	COSM1001183	5/10	PASS	ENST00000251372	Transcript	.	.	ENSG00000104974	6602	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.811)	.	tolerated(0.06)	1	LIRA1_HUMAN	LILRA1	HGNC	.	.	UPI0000034C00	SNV	LILRA1,missense_variant,p.Arg192Lys,ENST00000453777,;LILRA1,missense_variant,p.Arg192Lys,ENST00000251372,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	757	418	328	SUCCESS
ZSCAN1	284312	.	GRCh37	19	58563914	58563914	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	9	107	0	ENST00000282326.1:c.522T>C	p.Ser174=	p.S174=	ENST00000282326	NM_182572.3	174	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS12969.1	522	RADIA|MUTECT|VARSCANS	.	GAAAGTGAGTG	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187	.	.	ENSP00000282326	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000282326	Transcript	.	.	ENSG00000152467	23712	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSCA1_HUMAN	ZSCAN1	HGNC	.	.	UPI000013DCD2	SNV	ZSCAN1,synonymous_variant,p.%3D,ENST00000282326,;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;	769	107	103	SUCCESS
MTOR	2475	.	GRCh37	1	11204794	11204794	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	23	54	0	ENST00000361445.4:c.4783A>G	p.Met1595Val	p.M1595V	ENST00000361445	NM_004958.3	1595	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS127.1	4783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATGTGGC	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF02259	.	.	ENSP00000354558	.	34/58	.	.	.	.	.	.	.	.	.	34/58	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,missense_variant,p.Met1595Val,ENST00000361445,;MTOR-AS1,non_coding_transcript_exon_variant,,ENST00000420480,;MTOR-AS1,non_coding_transcript_exon_variant,,ENST00000445982,;MTOR,non_coding_transcript_exon_variant,,ENST00000495435,;	4860	54	35	SUCCESS
SLC22A15	55356	.	GRCh37	1	116563474	116563474	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	140	483	0	ENST00000369503.4:c.566A>G	p.Glu189Gly	p.E189G	ENST00000369503	NM_018420.2	189	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS44198.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGAATGTG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF170,hmmpanther:PTHR24064,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000358515	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000369503	Transcript	.	.	ENSG00000163393	20301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.336)	.	deleterious(0)	.	S22AF_HUMAN	SLC22A15	HGNC	B3KWH0_HUMAN	.	UPI000007412F	SNV	SLC22A15,missense_variant,p.Glu189Gly,ENST00000369503,;SLC22A15,missense_variant,p.Glu189Gly,ENST00000369502,;RP11-159M11.2,upstream_gene_variant,,ENST00000453128,;	696	483	343	SUCCESS
CCNL2	81669	.	GRCh37	1	1322749	1322749	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	102	0	ENST00000400809.3:c.1425G>A	p.Glu475=	p.E475=	ENST00000400809	NM_030937.4	475	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS30557.1	1425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCTCCCG	NONE	.	.	PIRSF_domain:PIRSF036580,hmmpanther:PTHR10026:SF45,hmmpanther:PTHR10026	.	.	ENSP00000383611	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,synonymous_variant,p.%3D,ENST00000400809,;CCNL2,synonymous_variant,p.%3D,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000408918,;CCNL2,non_coding_transcript_exon_variant,,ENST00000505849,;CCNL2,downstream_gene_variant,,ENST00000471930,;CCNL2,downstream_gene_variant,,ENST00000469113,;CCNL2,3_prime_UTR_variant,,ENST00000481223,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,3_prime_UTR_variant,,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000463260,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480479,;CCNL2,non_coding_transcript_exon_variant,,ENST00000418865,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,non_coding_transcript_exon_variant,,ENST00000482365,;CCNL2,downstream_gene_variant,,ENST00000480646,;CCNL2,downstream_gene_variant,,ENST00000492998,;	1431	102	90	SUCCESS
MUC1	4582	.	GRCh37	1	155160803	155160803	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	383	81	472	2	ENST00000368395.1:c.724G>A	p.Val242Ile	p.V242I	ENST00000368395	NM_001204285.1	242	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS55640.1	724	RADIA|VARSCANS	.	AGGTACCGTGC	NONE	.	.	hmmpanther:PTHR10006,hmmpanther:PTHR10006:SF7	.	.	ENSP00000357380	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000368395	Transcript	.	.	ENSG00000185499	7508	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.785)	.	tolerated(0.13)	.	.	MUC1	HGNC	Q9UMI8_HUMAN,Q7Z545_HUMAN,Q14877_HUMAN,B1AVQ5_HUMAN	.	UPI0000038A9F	SNV	MUC1,missense_variant,p.Val242Ile,ENST00000368395,;MUC1,intron_variant,,ENST00000368393,;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000438413,;MUC1,intron_variant,,ENST00000368389,;MUC1,intron_variant,,ENST00000368390,;MUC1,intron_variant,,ENST00000368396,;MUC1,intron_variant,,ENST00000337604,;MUC1,intron_variant,,ENST00000368392,;MUC1,intron_variant,,ENST00000338684,;MUC1,intron_variant,,ENST00000368398,;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,;TRIM46,downstream_gene_variant,,ENST00000368382,;THBS3,downstream_gene_variant,,ENST00000541576,;TRIM46,downstream_gene_variant,,ENST00000545012,;RP11-201K10.3,upstream_gene_variant,,ENST00000473363,;TRIM46,downstream_gene_variant,,ENST00000392451,;TRIM46,downstream_gene_variant,,ENST00000334634,;THBS3,downstream_gene_variant,,ENST00000368378,;THBS3,downstream_gene_variant,,ENST00000541990,;THBS3,downstream_gene_variant,,ENST00000457183,;MIR92B,upstream_gene_variant,,ENST00000607575,;MUC1,splice_donor_variant,,ENST00000462215,;MUC1,non_coding_transcript_exon_variant,,ENST00000462317,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000471283,;MUC1,intron_variant,,ENST00000467134,;MUC1,upstream_gene_variant,,ENST00000468978,;TRIM46,downstream_gene_variant,,ENST00000468878,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,upstream_gene_variant,,ENST00000485118,;MUC1,downstream_gene_variant,,ENST00000494844,;THBS3,downstream_gene_variant,,ENST00000498500,;THBS3,downstream_gene_variant,,ENST00000469769,;	796	475	465	SUCCESS
FAM189B	10712	.	GRCh37	1	155224577	155224577	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	16	140	0	ENST00000361361.2:c.92T>G	p.Leu31Arg	p.L31R	ENST00000361361	NM_006589.2	31	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS1103.1	92	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17615:SF7,hmmpanther:PTHR17615	.	.	ENSP00000354958	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000361361	Transcript	.	.	ENSG00000160767	1233	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	F189B_HUMAN	FAM189B	HGNC	.	.	UPI00000710DE	SNV	FAM189B,missense_variant,p.Leu31Arg,ENST00000368368,;FAM189B,missense_variant,p.Leu31Arg,ENST00000491082,;FAM189B,missense_variant,p.Leu31Arg,ENST00000350210,;FAM189B,missense_variant,p.Leu31Arg,ENST00000361361,;SCAMP3,downstream_gene_variant,,ENST00000355379,;SCAMP3,downstream_gene_variant,,ENST00000302631,;FAM189B,non_coding_transcript_exon_variant,,ENST00000472550,;SCAMP3,downstream_gene_variant,,ENST00000472397,;SCAMP3,downstream_gene_variant,,ENST00000465312,;SCAMP3,downstream_gene_variant,,ENST00000490999,;SCAMP3,downstream_gene_variant,,ENST00000462151,;SCAMP3,downstream_gene_variant,,ENST00000497470,;SCAMP3,downstream_gene_variant,,ENST00000478737,;FAM189B,missense_variant,p.Leu31Arg,ENST00000487649,;FAM189B,non_coding_transcript_exon_variant,,ENST00000481822,;FAM189B,upstream_gene_variant,,ENST00000368366,;FAM189B,upstream_gene_variant,,ENST00000497941,;	602	140	148	SUCCESS
OR10K1	391109	.	GRCh37	1	158435704	158435704	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145698229	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	306	54	394	0	ENST00000289451.2:c.353T>C	p.Met118Thr	p.M118T	ENST00000289451	NM_001004473.1	118	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS30897.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATGGGCT	BUFFER|p.R122C|c.364C>T|3	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF112,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000289451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	common_in_exac	ENST00000289451	Transcript	.	.	ENSG00000173285	14693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.341)	.	deleterious(0)	.	O10K1_HUMAN	OR10K1	HGNC	.	.	UPI0000041B19	SNV	OR10K1,missense_variant,p.Met118Thr,ENST00000289451,;	433	394	360	SUCCESS
OR6K6	128371	.	GRCh37	1	158725609	158725609	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs559439148	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	38	267	1	ENST00000368144.2:c.1004A>G	p.Gln335Arg	p.Q335R	ENST00000368144	NM_001005184.1	335	cAg/cGg	0	.	G:0	.	G:0	.	G	Q/R	protein_coding	YES	CCDS30904.1	1004	RADIA|MUTECT|MUSE|VARSCANS	.	CTATCAGAAGA	NONE	by1000G	.	hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,Superfamily_domains:SSF81321	G:0	.	ENSP00000357126	G:0	1/1	.	.	.	.	.	.	.	.	rs559439148	1/1	PASS	ENST00000368144	Transcript	.	G:0.0002	ENSG00000180433	15033	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	G:0.001	tolerated(0.1)	.	OR6K6_HUMAN	OR6K6	HGNC	.	.	UPI000015F229	SNV	OR6K6,missense_variant,p.Gln335Arg,ENST00000368144,;	1100	268	266	SUCCESS
TDRD5	163589	.	GRCh37	1	179621325	179621325	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375929466	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	23	309	0	ENST00000294848.8:c.2153G>A	p.Arg718His	p.R718H	ENST00000294848	NM_173533.3	718	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS55663.1	2153	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACGTATCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22948	.	A:0	ENSP00000406052	.	13/18	.	.	.	.	.	.	.	.	rs375929466,COSM3976627,COSM3976626	13/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.001)	.	tolerated(0.56)	0,1,1	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Arg718His,ENST00000367614,;TDRD5,missense_variant,p.Arg174His,ENST00000417329,;TDRD5,missense_variant,p.Arg718His,ENST00000444136,;TDRD5,missense_variant,p.Arg718His,ENST00000294848,;	2403	309	230	SUCCESS
DENND1B	163486	.	GRCh37	1	197704850	197704850	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	43	0	ENST00000367396.3:c.83-20646A>G		p.*28*	ENST00000367396	NM_144977.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41452.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTTCCAG	NONE	.	.	.	.	.	ENSP00000356366	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367396	Transcript	.	.	ENSG00000213047	28404	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN1B_HUMAN	DENND1B	HGNC	.	.	UPI0000227E74	SNV	DENND1B,5_prime_UTR_variant,,ENST00000235453,;DENND1B,intron_variant,,ENST00000422998,;DENND1B,intron_variant,,ENST00000367396,;DENND1B,upstream_gene_variant,,ENST00000400967,;DENND1B,non_coding_transcript_exon_variant,,ENST00000477581,;DENND1B,upstream_gene_variant,,ENST00000294738,;DENND1B,non_coding_transcript_exon_variant,,ENST00000495550,;DENND1B,non_coding_transcript_exon_variant,,ENST00000468589,;DENND1B,intron_variant,,ENST00000294737,;RP11-448G4.2,non_coding_transcript_exon_variant,,ENST00000447479,;	.	43	37	SUCCESS
PTPRC	5788	.	GRCh37	1	198721876	198721876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	78	0	ENST00000442510.2:c.3484A>G	p.Ser1162Gly	p.S1162G	ENST00000442510		1162	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS1397.2	3484	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGAGTACA	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50055,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,PIRSF_domain:PIRSF002004,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000411355	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	tolerated(0.09)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Ser999Gly,ENST00000594404,;PTPRC,missense_variant,p.Ser1001Gly,ENST00000348564,;PTPRC,missense_variant,p.Ser1112Gly,ENST00000352140,;PTPRC,missense_variant,p.Ser1160Gly,ENST00000367376,;PTPRC,missense_variant,p.Ser1162Gly,ENST00000442510,;	3625	78	77	SUCCESS
OPTC	26254	.	GRCh37	1	203468895	203468895	+	synonymous_variant	Silent	SNP	G	G	T	rs114294638	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	99	142	1	ENST00000367222.2:c.648G>T	p.Leu216=	p.L216=	ENST00000367222	NM_014359.3	216	ctG/ctT	0	.	A:0	.	A:0	.	T	L	protein_coding	YES	CCDS1439.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCCCGT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24370,PROSITE_profiles:PS51450	A:0.004	.	ENSP00000356191	A:0	5/8	.	.	.	.	.	.	.	.	rs114294638,COSM3997161	5/8	PASS	ENST00000367222	Transcript	.	A:0.0008	ENSG00000188770	8158	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	OPT_HUMAN	OPTC	HGNC	.	.	UPI00000015D9	SNV	OPTC,synonymous_variant,p.%3D,ENST00000367222,;OPTC,downstream_gene_variant,,ENST00000448911,;	764	143	166	SUCCESS
LYST	1130	.	GRCh37	1	235904821	235904821	+	synonymous_variant	Silent	SNP	C	C	T	rs116017878	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	25	323	1	ENST00000389793.2:c.8259G>A	p.Ser2753=	p.S2753=	ENST00000389793	NM_000081.3	2753	tcG/tcA	0	.	T:0.0008	.	T:0	.	T	S	protein_coding	YES	CCDS31062.1	8259	MUTECT|MUSE|VARSCANS	.	GCTGGCGACAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	T:0	.	ENSP00000374444	T:0	31/53	.	.	.	.	.	.	.	.	rs116017878	31/53	PASS	ENST00000389794	Transcript	.	T:0.0004	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.001	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;LYST,downstream_gene_variant,,ENST00000487530,;LYST,non_coding_transcript_exon_variant,,ENST00000461526,;LYST,upstream_gene_variant,,ENST00000473037,;LDHAP2,downstream_gene_variant,,ENST00000437325,;	8434	324	270	SUCCESS
EXO1	9156	.	GRCh37	1	242035389	242035389	+	synonymous_variant	Silent	SNP	G	G	A	rs752458504	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	310	26	400	0	ENST00000348581.5:c.1323G>A	p.Lys441=	p.K441=	ENST00000348581	NM_003686.4	441	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS1620.1	1323	MUTECT|MUSE	.	AAGAAGACCAA	NONE	byFrequency	.	hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	12/16	.	.	.	.	.	.	.	.	rs752458504,COSM1340670	12/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,synonymous_variant,p.%3D,ENST00000348581,;EXO1,synonymous_variant,p.%3D,ENST00000518483,;EXO1,synonymous_variant,p.%3D,ENST00000366548,;	1916	400	337	SUCCESS
KIF26B	55083	.	GRCh37	1	245674408	245674408	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	506	28	624	0	ENST00000407071.2:c.1167-29661A>G		p.*389*	ENST00000407071	NM_018012.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44342.1	.	MUTECT|MUSE	.	TATCAATGATG	NONE	.	.	.	.	.	ENSP00000385545	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODIFIER	4/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,start_lost,p.Met1?,ENST00000366518,;KIF26B,intron_variant,,ENST00000407071,;	.	624	534	SUCCESS
MMEL1	79258	.	GRCh37	1	2535696	2535696	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	82	198	2	ENST00000378412.3:c.841A>G	p.Met281Val	p.M281V	ENST00000378412		281	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS30569.2	841	RADIA|SOMATICSNIPER|VARSCANS	.	CACCATGAACT	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF112,Pfam_domain:PF05649,Superfamily_domains:SSF55486	.	.	ENSP00000367668	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000378412	Transcript	.	.	ENSG00000142606	14668	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	MMEL1_HUMAN	MMEL1	HGNC	.	.	UPI0000047596	SNV	MMEL1,missense_variant,p.Met272Val,ENST00000288709,;MMEL1,missense_variant,p.Met281Val,ENST00000378412,;MMEL1,intron_variant,,ENST00000502556,;MMEL1,missense_variant,p.Met281Val,ENST00000504800,;MMEL1,downstream_gene_variant,,ENST00000509374,;	1003	200	121	SUCCESS
USP24	23358	.	GRCh37	1	55573092	55573092	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1201988757	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	111	0	ENST00000294383.6:c.4582G>A	p.Glu1528Lys	p.E1528K	ENST00000294383	NM_015306.2	1528	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS44154.2	4582	MUTECT|MUSE|VARSCANS	.	CTGCTCCATTT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349	.	.	ENSP00000294383	.	40/68	.	.	.	.	.	.	.	.	.	40/68	PASS	ENST00000294383	Transcript	.	.	ENSG00000162402	12623	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.02)	.	tolerated(0.4)	.	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	SNV	USP24,missense_variant,p.Glu1368Lys,ENST00000407756,;USP24,missense_variant,p.Glu1528Lys,ENST00000294383,;	4582	111	73	SUCCESS
MYLK2	85366	.	GRCh37	20	30411376	30411376	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1249774186	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	59	0	ENST00000375985.4:c.869C>T	p.Ala290Val	p.A290V	ENST00000375985	NM_033118.3	290	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13191.1	869	MUSE|VARSCANS	.	GGAGGCGCTCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF118,hmmpanther:PTHR24347,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000365162	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000375994	Transcript	1	.	ENSG00000101306	16243	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.031)	.	tolerated(1)	.	MYLK2_HUMAN	MYLK2	HGNC	.	.	UPI0000041851	SNV	MYLK2,missense_variant,p.Ala290Val,ENST00000375985,;MYLK2,missense_variant,p.Ala290Val,ENST00000375994,;MYLK2,upstream_gene_variant,,ENST00000468730,;	1142	59	63	SUCCESS
ASXL1	171023	.	GRCh37	20	31016044	31016044	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	137	0	ENST00000375687.4:c.366A>G	p.Glu122=	p.E122=	ENST00000375687	NM_015338.5	122	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS13201.1	366	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAAAACGA	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,synonymous_variant,p.%3D,ENST00000375687,;ASXL1,synonymous_variant,p.%3D,ENST00000306058,;ASXL1,3_prime_UTR_variant,,ENST00000542461,;ASXL1,upstream_gene_variant,,ENST00000553345,;ASXL1,non_coding_transcript_exon_variant,,ENST00000470145,;ASXL1,upstream_gene_variant,,ENST00000555564,;	790	137	123	SUCCESS
MROH8	140699	.	GRCh37	20	35757451	35757451	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	10	99	0	ENST00000343811.4:c.1850C>T	p.Ala617Val	p.A617V	ENST00000343811	NM_152503.4	617	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	.	1850	RADIA|MUTECT|MUSE|VARSCANS	.	CATATGCCATC	NONE	.	.	hmmpanther:PTHR23120:SF4,hmmpanther:PTHR23120	.	.	ENSP00000339971	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000343811	Transcript	.	.	ENSG00000101353	16125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.693)	.	deleterious(0.03)	.	.	MROH8	HGNC	Q5JYR0_HUMAN,Q5JYQ9_HUMAN	.	UPI0000E5A31D	SNV	MROH8,missense_variant,p.Ala592Val,ENST00000421643,;MROH8,missense_variant,p.Ala617Val,ENST00000343811,;MROH8,missense_variant,p.Ala419Val,ENST00000217333,;MROH8,missense_variant,p.Ala576Val,ENST00000441008,;MROH8,missense_variant,p.Ala590Val,ENST00000400441,;MROH8,missense_variant,p.Ala218Val,ENST00000417458,;MROH8,missense_variant,p.Ala621Val,ENST00000400440,;	1849	99	89	SUCCESS
ATP9A	10079	.	GRCh37	20	50287725	50287725	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	86	0	ENST00000338821.5:c.1109G>A	p.Gly370Glu	p.G370E	ENST00000338821	NM_006045.1	370	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33489.1	1109	RADIA|MUTECT|MUSE	.	CGGTCCCGGGG	NONE	.	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473	.	.	ENSP00000342481	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.323)	.	tolerated(0.13)	.	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Gly370Glu,ENST00000338821,;ATP9A,missense_variant,p.Gly249Glu,ENST00000402822,;ATP9A,missense_variant,p.Gly234Glu,ENST00000311637,;	1374	86	96	SUCCESS
PLCB1	23236	.	GRCh37	20	8713939	8713939	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	9	183	0	ENST00000338037.6:c.1943A>G	p.Tyr648Cys	p.Y648C	ENST00000338037	NM_015192.3	648	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13102.1	1943	MUTECT|MUSE	.	TGGCTACAGAT	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00387,Gene3D:3.20.20.190,PIRSF_domain:PIRSF000956,SMART_domains:SM00149,Superfamily_domains:SSF51695	.	.	ENSP00000338185	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Tyr648Cys,ENST00000378641,;PLCB1,missense_variant,p.Tyr648Cys,ENST00000338037,;PLCB1,missense_variant,p.Tyr648Cys,ENST00000378637,;PLCB1,upstream_gene_variant,,ENST00000439627,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Tyr389Cys,ENST00000487210,;	1970	183	147	SUCCESS
LIPI	149998	.	GRCh37	21	15579205	15579206	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	80	0	ENST00000344577.2:c.39dup	p.Tyr14IlefsTer2	p.Y14Ifs*2	ENST00000344577	NM_198996.2	13	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13564.1	39-40	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTATATTTTT	NONE	.	.	.	.	.	ENSP00000343331	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	insertion	LIPI,frameshift_variant,p.Tyr14IlefsTer2,ENST00000344577,;LIPI,intron_variant,,ENST00000536861,;	65-66	80	73	SUCCESS
COL6A2	1292	.	GRCh37	21	47531490	47531492	+	inframe_deletion	In_Frame_Del	DEL	AAC	AAC	-	rs754701639	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	AAC	AAC	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	109	0	ENST00000300527.4:c.106_108del	p.Asn36del	p.N36del	ENST00000300527	NM_001849.3	34	AAC/-	0	.	.	.	.	.	-	N/-	protein_coding	YES	CCDS13728.1	100-102	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAGAAACAACAA	NONE	byFrequency	.	Superfamily_domains:SSF53300	.	.	ENSP00000300527	.	2/28	.	.	.	.	.	.	.	.	rs754701639	2/28	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	deletion	COL6A2,inframe_deletion,p.Asn36del,ENST00000397763,;COL6A2,inframe_deletion,p.Asn36del,ENST00000310645,;COL6A2,inframe_deletion,p.Asn36del,ENST00000300527,;COL6A2,inframe_deletion,p.Asn36del,ENST00000357838,;COL6A2,inframe_deletion,p.Asn36del,ENST00000409416,;COL6A2,inframe_deletion,p.Asn36del,ENST00000436769,;COL6A2,upstream_gene_variant,,ENST00000460886,;COL6A2,upstream_gene_variant,,ENST00000485591,;	204-206	109	75	SUCCESS
SEZ6L	23544	.	GRCh37	22	26688528	26688528	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1569447938	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	49	1	ENST00000248933.6:c.251T>C	p.Val84Ala	p.V84A	ENST00000248933		84	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13833.1	251	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTGGTGCTGG	BUFFER|p.G81G|c.243C>T|3	.	.	.	.	.	ENSP00000248933	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.1)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Val84Ala,ENST00000529632,;SEZ6L,missense_variant,p.Val84Ala,ENST00000248933,;SEZ6L,missense_variant,p.Val84Ala,ENST00000360929,;SEZ6L,missense_variant,p.Val84Ala,ENST00000343706,;SEZ6L,missense_variant,p.Val84Ala,ENST00000404234,;SEZ6L,5_prime_UTR_variant,,ENST00000402979,;SEZ6L,5_prime_UTR_variant,,ENST00000403121,;	346	51	33	SUCCESS
PARVB	29780	.	GRCh37	22	44465040	44465040	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	78	359	2	ENST00000338758.7:c.113-24768C>T		p.*38*	ENST00000338758	NM_013327.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46724.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCTCGCCAGTG	NONE	.	.	.	.	.	ENSP00000384515	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406477	Transcript	.	.	ENSG00000188677	14653	.	.	MODIFIER	2/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PARVB_HUMAN	PARVB	HGNC	.	.	UPI000041A256	SNV	PARVB,splice_region_variant,,ENST00000404989,;PARVB,intron_variant,,ENST00000406477,;PARVB,intron_variant,,ENST00000444029,;PARVB,intron_variant,,ENST00000338758,;PARVB,intron_variant,,ENST00000402876,;	.	361	252	SUCCESS
TTN	7273	.	GRCh37	2	179548789	179548789	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs72650032	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	107	232	1	ENST00000591111.1:c.31792G>A	p.Ala10598Thr	p.A10598T	ENST00000591111		10598	Gct/Act	0	G:0.0083	G:0.0068	.	G:0.0029	.	T	A/T	protein_coding	YES	CCDS59435.1	32743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCTCTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF02818	G:0	G:0.0001	ENSP00000467141	G:0	133/363	.	.	.	.	.	.	.	.	rs72650032	133/363	PASS	ENST00000589042	Transcript	.	G:0.0022	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	.	G:0	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala9671Thr,ENST00000342992,;TTN,missense_variant,p.Ala10915Thr,ENST00000589042,;TTN,missense_variant,p.Ala10598Thr,ENST00000591111,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	32968	233	166	SUCCESS
TTN	7273	.	GRCh37	2	179575865	179575865	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs374930292	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	115	0	ENST00000591111.1:c.27147C>G	p.Ser9049Arg	p.S9049R	ENST00000591111		9049	agC/agG	0	C:0.0003	.	.	.	.	C	S/R	protein_coding	YES	CCDS59435.1	28098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGCTCCG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	C:0	ENSP00000467141	.	97/363	.	.	.	.	.	.	.	.	rs374930292	97/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser8122Arg,ENST00000342992,;TTN,missense_variant,p.Ser9366Arg,ENST00000589042,;TTN,missense_variant,p.Ser9049Arg,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	28323	115	73	SUCCESS
RAPH1	65059	.	GRCh37	2	204326584	204326584	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	395	23	366	0	ENST00000319170.5:c.797C>T	p.Ala266Val	p.A266V	ENST00000319170	NM_213589.1	266	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2359.1	797	MUTECT|MUSE	.	CTTGTGCCTCT	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	.	.	ENSP00000316543	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,missense_variant,p.Ala266Val,ENST00000418114,;RAPH1,missense_variant,p.Ala293Val,ENST00000423104,;RAPH1,missense_variant,p.Ala266Val,ENST00000419464,;RAPH1,missense_variant,p.Ala291Val,ENST00000374488,;RAPH1,missense_variant,p.Ala291Val,ENST00000439222,;RAPH1,missense_variant,p.Ala318Val,ENST00000374493,;RAPH1,missense_variant,p.Ala293Val,ENST00000374489,;RAPH1,missense_variant,p.Ala318Val,ENST00000453034,;RAPH1,missense_variant,p.Ala266Val,ENST00000457812,;RAPH1,missense_variant,p.Ala318Val,ENST00000308091,;RAPH1,missense_variant,p.Ala266Val,ENST00000319170,;	1097	366	419	SUCCESS
SLC19A3	80704	.	GRCh37	2	228567037	228567037	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	64	0	ENST00000258403.3:c.-2-1G>A		p.X1_splice	ENST00000258403	NM_025243.3	1		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2468.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCTGATC	NONE	.	.	.	.	.	ENSP00000258403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258403	Transcript	.	.	ENSG00000135917	16266	.	.	HIGH	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S19A3_HUMAN	SLC19A3	HGNC	C9J4J5_HUMAN,C9IZI1_HUMAN,B8ZZ39_HUMAN	.	UPI000004DAE9	SNV	SLC19A3,splice_acceptor_variant,,ENST00000409287,;SLC19A3,splice_acceptor_variant,,ENST00000258403,;SLC19A3,splice_acceptor_variant,,ENST00000456524,;SLC19A3,splice_acceptor_variant,,ENST00000541617,;SLC19A3,5_prime_UTR_variant,,ENST00000419059,;SLC19A3,5_prime_UTR_variant,,ENST00000409456,;SLC19A3,splice_acceptor_variant,,ENST00000431622,;SLC19A3,splice_acceptor_variant,,ENST00000477697,;SLC19A3,splice_acceptor_variant,,ENST00000425817,;	.	64	46	SUCCESS
SPHKAP	80309	.	GRCh37	2	228884727	228884727	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	846	124	1283	1	ENST00000392056.3:c.843T>A	p.Ile281=	p.I281=	ENST00000392056	NM_001142644.1	281	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS46537.1	843	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTAATCAA	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,synonymous_variant,p.%3D,ENST00000344657,;SPHKAP,synonymous_variant,p.%3D,ENST00000392056,;	890	1284	971	SUCCESS
MTIF2	4528	.	GRCh37	2	55473534	55473534	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	21	272	0	ENST00000263629.4:c.1045G>A	p.Ala349Thr	p.A349T	ENST00000263629	NM_002453.2	349	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1853.1	1045	MUTECT|MUSE|VARSCANS	.	ATCTGCTTTCA	NONE	.	.	HAMAP:MF_00100_B,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF113,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378099	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000394600	Transcript	.	.	ENSG00000085760	7441	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	IF2M_HUMAN	MTIF2	HGNC	E7EW07_HUMAN,E7ESE3_HUMAN,C9JIY5_HUMAN,B5MCU1_HUMAN	.	UPI000013D42F	SNV	MTIF2,missense_variant,p.Ala69Thr,ENST00000418823,;MTIF2,missense_variant,p.Ala349Thr,ENST00000394600,;MTIF2,missense_variant,p.Ala349Thr,ENST00000403721,;MTIF2,missense_variant,p.Ala349Thr,ENST00000263629,;	1782	272	212	SUCCESS
C2orf81	388963	.	GRCh37	2	74641896	74641896	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	15	135	0	ENST00000290390.5:c.1327C>T	p.Leu443=	p.L443=	ENST00000290390	NM_001145054.1	443	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	.	1327	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGCTTTG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15479	.	.	ENSP00000290390	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290390	Transcript	.	.	ENSG00000159239	34350	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	C2orf81	HGNC	G3XAA6_HUMAN	.	UPI0000EE2496	SNV	C2orf81,synonymous_variant,p.%3D,ENST00000517883,;C2orf81,synonymous_variant,p.%3D,ENST00000290390,;C2orf81,downstream_gene_variant,,ENST00000518401,;C2orf81,downstream_gene_variant,,ENST00000517896,;C2orf81,downstream_gene_variant,,ENST00000518863,;HMGA1P8,downstream_gene_variant,,ENST00000414130,;AC005041.11,upstream_gene_variant,,ENST00000448783,;	1636	135	100	SUCCESS
ANKRD36BP2	645784	.	GRCh37	2	89082254	89082254	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	21	0	ENST00000393525.3:n.478C>T		p.*160*	ENST00000393525				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	AGTGTCTTCTC	NONE	.	.	.	.	.	.	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000393525	Transcript	.	.	ENSG00000230006	33607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ANKRD36BP2	HGNC	.	.	.	SNV	ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393525,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393515,;ANKRD36BP2,downstream_gene_variant,,ENST00000421951,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000575193,;	478	21	11	SUCCESS
PHLDB2	90102	.	GRCh37	3	111688738	111688738	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	34	118	1	ENST00000393925.3:c.3517A>T	p.Thr1173Ser	p.T1173S	ENST00000393925	NM_001134439.1	1173	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS46886.1	3517	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCGAACATTC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12156:SF17,hmmpanther:PTHR12156,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000405405	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000431670	Transcript	.	.	ENSG00000144824	29573	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.812)	.	deleterious(0)	.	PHLB2_HUMAN	PHLDB2	HGNC	Q8NEI7_HUMAN,Q659D2_HUMAN	.	UPI0000457152	SNV	PHLDB2,missense_variant,p.Thr1157Ser,ENST00000393923,;PHLDB2,missense_variant,p.Thr1130Ser,ENST00000412622,;PHLDB2,missense_variant,p.Thr1130Ser,ENST00000481953,;PHLDB2,missense_variant,p.Thr664Ser,ENST00000495180,;PHLDB2,missense_variant,p.Thr1173Ser,ENST00000431670,;PHLDB2,missense_variant,p.Thr1173Ser,ENST00000393925,;PHLDB2,downstream_gene_variant,,ENST00000498699,;PHLDB2,downstream_gene_variant,,ENST00000470699,;PHLDB2,non_coding_transcript_exon_variant,,ENST00000486886,;PHLDB2,downstream_gene_variant,,ENST00000478584,;	3928	119	111	SUCCESS
BOC	91653	.	GRCh37	3	112969411	112969411	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	7	113	0	ENST00000355385.3:c.107C>T	p.Pro36Leu	p.P36L	ENST00000355385	NM_033254.2	36	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2971.1	107	MUTECT|MUSE|VARSCANS	.	GGTCCCTCAGG	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	.	.	ENSP00000418663	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.4)	.	tolerated(0.25)	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,missense_variant,p.Pro36Leu,ENST00000355385,;BOC,missense_variant,p.Pro36Leu,ENST00000485230,;BOC,missense_variant,p.Pro36Leu,ENST00000495514,;BOC,missense_variant,p.Pro36Leu,ENST00000273395,;BOC,missense_variant,p.Pro36Leu,ENST00000464546,;BOC,missense_variant,p.Pro36Leu,ENST00000484034,;BOC,intron_variant,,ENST00000498710,;BOC,downstream_gene_variant,,ENST00000494687,;BOC,downstream_gene_variant,,ENST00000462425,;BOC,non_coding_transcript_exon_variant,,ENST00000471963,;	811	113	83	SUCCESS
POLQ	10721	.	GRCh37	3	121207657	121207657	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1315048990	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	326	39	429	0	ENST00000264233.5:c.4121C>T	p.Pro1374Leu	p.P1374L	ENST00000264233	NM_199420.3	1374	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33833.1	4121	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGGAATG	NONE	.	.	.	.	.	ENSP00000264233	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.3)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Pro1374Leu,ENST00000264233,;	4250	429	366	SUCCESS
EAF2	55840	.	GRCh37	3	121554071	121554071	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	44	0	ENST00000273668.2:c.-62A>T		p.*21*	ENST00000273668	NM_018456.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3006.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCAGGCTG	NONE	.	.	.	.	.	ENSP00000273668	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000273668	Transcript	.	.	ENSG00000145088	23115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAF2_HUMAN	EAF2	HGNC	F8WF04_HUMAN	.	UPI000000D7DA	SNV	EAF2,5_prime_UTR_variant,,ENST00000273668,;EAF2,upstream_gene_variant,,ENST00000451944,;IQCB1,upstream_gene_variant,,ENST00000460108,;IQCB1,upstream_gene_variant,,ENST00000310864,;IQCB1,upstream_gene_variant,,ENST00000349820,;IQCB1,upstream_gene_variant,,ENST00000498104,;IQCB1,upstream_gene_variant,,ENST00000462442,;EAF2,non_coding_transcript_exon_variant,,ENST00000465664,;EAF2,5_prime_UTR_variant,,ENST00000490434,;IQCB1,upstream_gene_variant,,ENST00000393650,;IQCB1,upstream_gene_variant,,ENST00000471726,;EAF2,upstream_gene_variant,,ENST00000490477,;	10	44	49	SUCCESS
TMCC1	23023	.	GRCh37	3	129389440	129389440	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	27	266	0	ENST00000393238.3:c.1244C>A	p.Pro415Gln	p.P415Q	ENST00000393238	NM_001017395.3	415	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS33855.1	1244	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGGGCTA	NONE	.	.	Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11	.	.	ENSP00000376930	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000393238	Transcript	.	.	ENSG00000172765	29116	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TMCC1_HUMAN	TMCC1	HGNC	Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN	.	UPI0000197B80	SNV	TMCC1,missense_variant,p.Pro236Gln,ENST00000329333,;TMCC1,missense_variant,p.Pro301Gln,ENST00000426664,;TMCC1,missense_variant,p.Pro91Gln,ENST00000432054,;TMCC1,missense_variant,p.Pro415Gln,ENST00000393238,;TMCC1,downstream_gene_variant,,ENST00000505616,;	1585	266	243	SUCCESS
CLSTN2	64084	.	GRCh37	3	140140017	140140017	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	75	0	ENST00000458420.3:c.688G>C	p.Glu230Gln	p.E230Q	ENST00000458420	NM_022131.2	230	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS3112.1	688	RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGAGATC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000402460	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.051)	.	tolerated(0.16)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Glu230Gln,ENST00000458420,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	878	75	75	SUCCESS
ATR	545	.	GRCh37	3	142215986	142215986	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	70	0	ENST00000350721.4:c.5607G>A	p.Gln1869=	p.Q1869=	ENST00000350721	NM_001184.3	1869	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS3124.1	5607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCTGGAA	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Pfam_domain:PF02259	.	.	ENSP00000343741	.	33/47	.	.	.	.	.	.	.	.	.	33/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,synonymous_variant,p.%3D,ENST00000383101,;ATR,synonymous_variant,p.%3D,ENST00000350721,;ATR,3_prime_UTR_variant,,ENST00000514393,;ATR,non_coding_transcript_exon_variant,,ENST00000507620,;	5729	70	86	SUCCESS
MED12L	116931	.	GRCh37	3	150873991	150873991	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	60	1	ENST00000474524.1:c.600C>T	p.Ala200=	p.A200=	ENST00000474524	NM_053002.4	200	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33876.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCAAGAT	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5	.	.	ENSP00000417235	.	5/43	.	.	.	.	.	.	.	.	.	5/43	PASS	ENST00000474524	Transcript	.	.	ENSG00000144893	16050	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MD12L_HUMAN	MED12L	HGNC	.	.	UPI000020A46B	SNV	MED12L,synonymous_variant,p.%3D,ENST00000474524,;MED12L,synonymous_variant,p.%3D,ENST00000422248,;MED12L,synonymous_variant,p.%3D,ENST00000273432,;MED12L,synonymous_variant,p.%3D,ENST00000309237,;	638	61	75	SUCCESS
LRRC31	79782	.	GRCh37	3	169557828	169557828	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	396	27	496	0	ENST00000316428.5:c.1601A>G	p.Glu534Gly	p.E534G	ENST00000316428	NM_024727.3	534	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS43167.1	1601	MUTECT|MUSE	.	AGCATTCTAGT	NONE	.	.	hmmpanther:PTHR24109,Gene3D:3.80.10.10	.	.	ENSP00000325978	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000316428	Transcript	.	.	ENSG00000114248	26261	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.11)	.	LRC31_HUMAN	LRRC31	HGNC	.	.	UPI00001D690F	SNV	LRRC31,missense_variant,p.Glu478Gly,ENST00000264676,;LRRC31,missense_variant,p.Glu534Gly,ENST00000316428,;LRRC31,3_prime_UTR_variant,,ENST00000523069,;LRRIQ4,downstream_gene_variant,,ENST00000340806,;	1659	496	423	SUCCESS
EHHADH	1962	.	GRCh37	3	184910999	184910999	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	61	172	0	ENST00000231887.3:c.1187T>G	p.Leu396Arg	p.L396R	ENST00000231887	NM_001166415.1	396	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS33901.1	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGAGTTCA	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF02737,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Leu300Arg,ENST00000456310,;EHHADH,missense_variant,p.Leu396Arg,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1263	173	156	SUCCESS
CLASP2	23122	.	GRCh37	3	33673843	33673843	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1174055064	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	65	232	0	ENST00000468888.2:c.886G>A	p.Ala296Thr	p.A296T	ENST00000468888		296	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCACCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567	.	.	ENSP00000419974	.	9/39	.	.	.	.	.	.	.	.	.	9/39	PASS	ENST00000468888	Transcript	.	.	ENSG00000163539	17078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	.	CLASP2	HGNC	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN	.	UPI0001B7944B	SNV	CLASP2,missense_variant,p.Ala72Thr,ENST00000333778,;CLASP2,missense_variant,p.Ala295Thr,ENST00000359576,;CLASP2,missense_variant,p.Ala62Thr,ENST00000461133,;CLASP2,missense_variant,p.Ala63Thr,ENST00000496954,;CLASP2,missense_variant,p.Ala296Thr,ENST00000468888,;CLASP2,missense_variant,p.Ala68Thr,ENST00000487200,;CLASP2,missense_variant,p.Ala68Thr,ENST00000313350,;CLASP2,missense_variant,p.Ala68Thr,ENST00000485378,;CLASP2,missense_variant,p.Ala295Thr,ENST00000399362,;CLASP2,missense_variant,p.Ala62Thr,ENST00000480013,;CLASP2,5_prime_UTR_variant,,ENST00000307312,;CLASP2,intron_variant,,ENST00000539981,;CLASP2,non_coding_transcript_exon_variant,,ENST00000476433,;CLASP2,non_coding_transcript_exon_variant,,ENST00000482896,;CLASP2,non_coding_transcript_exon_variant,,ENST00000498331,;	933	232	190	SUCCESS
DLEC1	9940	.	GRCh37	3	38135225	38135225	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774060723	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	52	148	0	ENST00000308059.6:c.1886C>T	p.Thr629Met	p.T629M	ENST00000308059		629	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS2672.2	1886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGGCTA	NONE	byFrequency	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	12/37	.	.	.	.	.	.	.	.	rs774060723	12/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	deleterious(0.04)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Thr629Met,ENST00000308059,;DLEC1,missense_variant,p.Thr629Met,ENST00000346219,;DLEC1,missense_variant,p.Thr629Met,ENST00000452631,;DLEC1,3_prime_UTR_variant,,ENST00000447130,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;	1907	148	169	SUCCESS
ITPR1	3708	.	GRCh37	3	4732940	4732940	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	66	252	1	ENST00000354582.6:c.3941G>A	p.Arg1314Gln	p.R1314Q	ENST00000354582		1314	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54551.1	3896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGGAATG	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF01365,Superfamily_domains:SSF48371	.	.	ENSP00000306253	.	31/61	.	.	.	.	.	.	.	.	.	31/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Arg1299Gln,ENST00000443694,;ITPR1,missense_variant,p.Arg1314Gln,ENST00000354582,;ITPR1,missense_variant,p.Arg1305Gln,ENST00000423119,;ITPR1,missense_variant,p.Arg1290Gln,ENST00000456211,;ITPR1,missense_variant,p.Arg1305Gln,ENST00000357086,;ITPR1,missense_variant,p.Arg1299Gln,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	4246	253	202	SUCCESS
C3orf84	646498	.	GRCh37	3	49215434	49215434	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	26	0	ENST00000545770.2:c.250C>T	p.Leu84=	p.L84=	ENST00000545770	NM_001080528.2	84	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS58831.1	250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGGCGCT	NONE	.	.	Pfam_domain:PF15115	.	.	ENSP00000454903	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000545770	Transcript	.	.	ENSG00000236980	44666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC084_HUMAN	C3orf84	HGNC	.	.	UPI0001C53D25	SNV	C3orf84,synonymous_variant,p.%3D,ENST00000545770,;C3orf84,synonymous_variant,p.%3D,ENST00000432035,;KLHDC8B,downstream_gene_variant,,ENST00000332780,;C3orf84,non_coding_transcript_exon_variant,,ENST00000443990,;KLHDC8B,downstream_gene_variant,,ENST00000462582,;KLHDC8B,downstream_gene_variant,,ENST00000459846,;KLHDC8B,downstream_gene_variant,,ENST00000476495,;KLHDC8B,downstream_gene_variant,,ENST00000471811,;	337	26	16	SUCCESS
BAP1	8314	.	GRCh37	3	52440270	52440276	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGCTGCA	TGCTGCA	-	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	TGCTGCA	TGCTGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	125	0	ENST00000460680.1:c.776_782del	p.Leu259ArgfsTer2	p.L259Rfs*2	ENST00000460680	NM_004656.3	259	cTGCAGCAg/cg	0	.	.	.	.	.	-	LQQ/X	protein_coding	YES	CCDS2853.1	776-782	INDELOCATOR*|PINDEL	.	CCTACCTGCTGCAGAGCC	CODON|p.Q261*|c.781C>T|3	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,frameshift_variant,p.Leu241ArgfsTer2,ENST00000296288,;BAP1,frameshift_variant,p.Leu259ArgfsTer2,ENST00000460680,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,splice_region_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,downstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;	1248-1254	125	46	SUCCESS
SPATA12	353324	.	GRCh37	3	57108184	57108184	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	8	113	0	ENST00000334325.1:c.462G>T	p.Glu154Asp	p.E154D	ENST00000334325	NM_181727.1	154	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS2879.1	462	MUTECT|MUSE	.	GCCGAGCCCAG	NONE	.	.	.	.	.	ENSP00000335392	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334325	Transcript	.	.	ENSG00000186451	23221	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.801)	.	deleterious_low_confidence(0.04)	.	SPT12_HUMAN	SPATA12	HGNC	.	.	UPI00001A9456	SNV	SPATA12,missense_variant,p.Glu154Asp,ENST00000334325,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;RP11-157F20.3,upstream_gene_variant,,ENST00000607541,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000477833,;	1137	113	118	SUCCESS
SMARCA5	8467	.	GRCh37	4	144467138	144467138	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	73	304	1	ENST00000283131.3:c.2458A>G	p.Ile820Val	p.I820V	ENST00000283131	NM_003601.3	820	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3761.1	2458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAATTGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF575,hmmpanther:PTHR10799,Pfam_domain:PF09110,Superfamily_domains:0041827	.	.	ENSP00000283131	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000283131	Transcript	1	.	ENSG00000153147	11101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.1)	.	SMCA5_HUMAN	SMARCA5	HGNC	Q4W5H1_HUMAN,Q4W5G3_HUMAN	.	UPI000006E693	SNV	SMARCA5,missense_variant,p.Ile820Val,ENST00000283131,;SMARCA5,upstream_gene_variant,,ENST00000508573,;SMARCA5,downstream_gene_variant,,ENST00000515531,;	2920	305	216	SUCCESS
ZNF827	152485	.	GRCh37	4	146686272	146686272	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	148	0	ENST00000508784.1:c.3098T>A	p.Met1033Lys	p.M1033K	ENST00000508784		1033	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS34072.1	3098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACATGTTC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.23)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Met134Lys,ENST00000511659,;ZNF827,missense_variant,p.Met1033Lys,ENST00000508784,;ZNF827,missense_variant,p.Met1033Lys,ENST00000379448,;ZNF827,missense_variant,p.Met683Lys,ENST00000513320,;ZNF827,upstream_gene_variant,,ENST00000503462,;C4orf51,intron_variant,,ENST00000510096,;ZNF827,non_coding_transcript_exon_variant,,ENST00000515386,;	3162	148	93	SUCCESS
DCHS2	54798	.	GRCh37	4	155278437	155278437	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	91	0	ENST00000357232.4:c.734A>G	p.Asn245Ser	p.N245S	ENST00000357232	NM_017639.3	245	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS3785.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTTGACA	NONE	.	.	PROSITE_profiles:PS50268	.	.	ENSP00000349768	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.8)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Asn245Ser,ENST00000357232,;DCHS2,intron_variant,,ENST00000339452,;DCHS2,upstream_gene_variant,,ENST00000507542,;DCHS2,upstream_gene_variant,,ENST00000504580,;	734	91	56	SUCCESS
PROM1	8842	.	GRCh37	4	16035130	16035130	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	42	233	0	ENST00000447510.2:c.306T>C		p.X102_splice	ENST00000447510	NM_006017.2	102	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS47029.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGACAATCTG	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3	.	.	ENSP00000426809	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000510224	Transcript	1	.	ENSG00000007062	9454	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROM1_HUMAN	PROM1	HGNC	D6RIF3_HUMAN,D6RBI0_HUMAN	.	UPI000004ECD6	SNV	PROM1,synonymous_variant,p.%3D,ENST00000505450,;PROM1,synonymous_variant,p.%3D,ENST00000510224,;PROM1,synonymous_variant,p.%3D,ENST00000508167,;PROM1,synonymous_variant,p.%3D,ENST00000543373,;PROM1,synonymous_variant,p.%3D,ENST00000447510,;PROM1,synonymous_variant,p.%3D,ENST00000539194,;PROM1,synonymous_variant,p.%3D,ENST00000540805,;PROM1,splice_region_variant,,ENST00000502943,;PROM1,splice_region_variant,,ENST00000511153,;	555	233	157	SUCCESS
LYAR	55646	.	GRCh37	4	4275388	4275388	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	33	164	0	ENST00000343470.4:c.841G>A	p.Asp281Asn	p.D281N	ENST00000343470	NM_017816.2	281	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3374.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCTGTTT	NONE	.	.	hmmpanther:PTHR13100:SF10,hmmpanther:PTHR13100	.	.	ENSP00000345917	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000343470	Transcript	.	.	ENSG00000145220	26021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.35)	.	LYAR_HUMAN	LYAR	HGNC	D6RDJ1_HUMAN	.	UPI00001AE9B6	SNV	LYAR,missense_variant,p.Asp281Asn,ENST00000452476,;LYAR,missense_variant,p.Asp281Asn,ENST00000343470,;LYAR,upstream_gene_variant,,ENST00000502917,;	1082	164	128	SUCCESS
ZNF721	170960	.	GRCh37	4	436527	436527	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782091453	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	25	186	0	ENST00000338977.5:c.1693A>G	p.Arg565Gly	p.R565G	ENST00000338977		565	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46991.1	1729	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTCCTAT	CODON|p.R577I|c.1730G>T|3,CODON|p.R347I|c.1040G>T|3	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000428878	.	3/3	.	.	.	.	.	.	.	.	rs782091453	3/3	PASS	ENST00000511833	Transcript	.	.	ENSG00000182903	29425	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.02)	.	ZN721_HUMAN	ZNF721	HGNC	.	.	UPI0000E9B4A9	SNV	ZNF721,missense_variant,p.Arg565Gly,ENST00000338977,;ZNF721,missense_variant,p.Arg577Gly,ENST00000511833,;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000514396,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ZNF721,intron_variant,,ENST00000515578,;	1923	186	158	SUCCESS
STK32B	55351	.	GRCh37	4	5170120	5170120	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	27	141	0	ENST00000282908.5:c.203T>A	p.Val68Asp	p.V68D	ENST00000282908	NM_018401.1	68	gTt/gAt	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS3380.1	203	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTTTTCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000282908	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000282908	Transcript	.	.	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.Val21Asp,ENST00000510398,;STK32B,missense_variant,p.Val21Asp,ENST00000512636,;STK32B,missense_variant,p.Val68Asp,ENST00000282908,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	625	141	153	SUCCESS
SLC4A4	8671	.	GRCh37	4	72338736	72338736	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	98	0	ENST00000264485.5:c.1903+49G>A		p.*635*	ENST00000264485	NM_001098484.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47071.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGGTGTA	NONE	.	.	.	.	.	ENSP00000393557	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425175	Transcript	1	.	ENSG00000080493	11030	.	.	MODIFIER	14/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A4_HUMAN	SLC4A4	HGNC	A5JJ20_HUMAN	.	UPI000152897D	SNV	SLC4A4,missense_variant,p.Arg607Lys,ENST00000512686,;SLC4A4,intron_variant,,ENST00000340595,;SLC4A4,intron_variant,,ENST00000425175,;SLC4A4,intron_variant,,ENST00000264485,;SLC4A4,intron_variant,,ENST00000351898,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	.	98	48	SUCCESS
FRAS1	80144	.	GRCh37	4	79428611	79428611	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778398446	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	47	217	0	ENST00000264895.6:c.9353C>T	p.Ser3118Phe	p.S3118F	ENST00000264895	NM_025074.6	3118	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS54771.1	9353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCCAATG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000264895	.	62/74	.	.	.	.	.	.	.	.	rs778398446	62/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Ser1347Phe,ENST00000512123,;FRAS1,missense_variant,p.Ser3118Phe,ENST00000264895,;	9793	217	165	SUCCESS
ABCG2	9429	.	GRCh37	4	89039357	89039357	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762343090	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	133	1	ENST00000237612.3:c.745A>G	p.Ile249Val	p.I249V	ENST00000237612	NM_004827.2	249	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3628.1	745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGGAAT	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000237612	.	7/16	.	.	.	.	.	.	.	.	rs762343090	7/16	PASS	ENST00000237612	Transcript	1	.	ENSG00000118777	74	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ABCG2_HUMAN	ABCG2	HGNC	F8S0F2_HUMAN	.	UPI0000001275	SNV	ABCG2,missense_variant,p.Ile249Val,ENST00000515655,;ABCG2,missense_variant,p.Ile249Val,ENST00000237612,;	1291	135	101	SUCCESS
SRFBP1	153443	.	GRCh37	5	121358098	121358098	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	242	0	ENST00000339397.4:c.1101C>G	p.Ser367=	p.S367=	ENST00000339397	NM_152546.2	367	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS43354.1	1101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCCTAGG	NONE	.	.	hmmpanther:PTHR23325	.	.	ENSP00000341324	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000339397	Transcript	.	.	ENSG00000151304	26333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRFB1_HUMAN	SRFBP1	HGNC	.	.	UPI000006DEC3	SNV	SRFBP1,synonymous_variant,p.%3D,ENST00000339397,;SRFBP1,non_coding_transcript_exon_variant,,ENST00000504881,;	1173	242	96	SUCCESS
PCDHA2	56146	.	GRCh37	5	140175842	140175842	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	161	0	ENST00000526136.1:c.1293C>T	p.Gly431=	p.G431=	ENST00000526136	NM_018905.2	431	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS54914.1	1293	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCTCGCC	BUFFER|p.S432L|c.1295C>T|3,BUFFER|p.S432L|c.1295C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,synonymous_variant,p.%3D,ENST00000378132,;PCDHA2,synonymous_variant,p.%3D,ENST00000526136,;PCDHA2,synonymous_variant,p.%3D,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,upstream_gene_variant,,ENST00000532566,;PCDHA3,upstream_gene_variant,,ENST00000522353,;	1293	161	84	SUCCESS
PCDHA4	56144	.	GRCh37	5	140188279	140188279	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	142	0	ENST00000530339.1:c.1507G>A	p.Ala503Thr	p.A503T	ENST00000530339	NM_018907.2	503	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54916.1	1507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGCGCTG	BUFFER|p.V499G|c.1496T>G|3,BUFFER|p.V499G|c.1496T>G|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000435300	.	1/4	.	.	.	.	.	.	.	.	COSM3393187,COSM3393186	1/4	PASS	ENST00000530339	Transcript	.	.	ENSG00000204967	8670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.055)	.	tolerated_low_confidence(0.11)	1,1	PCDA4_HUMAN	PCDHA4	HGNC	.	.	UPI00001273CC	SNV	PCDHA4,missense_variant,p.Ala503Thr,ENST00000356878,;PCDHA4,missense_variant,p.Ala503Thr,ENST00000530339,;PCDHA4,missense_variant,p.Ala503Thr,ENST00000512229,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA2,downstream_gene_variant,,ENST00000520672,;	1507	142	85	SUCCESS
PCDHGA3	56112	.	GRCh37	5	140723657	140723657	+	synonymous_variant	Silent	SNP	C	C	T	rs200693710	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	87	0	ENST00000253812.6:c.57C>T	p.Leu19=	p.L19=	ENST00000253812	NM_018916.3	19	ctC/ctT	0	.	G:0.0008	.	G:0	.	T	L	protein_coding	YES	CCDS47290.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCCTGGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112	G:0	.	ENSP00000253812	G:0	1/4	.	.	.	.	.	.	.	.	rs200693710	1/4	PASS	ENST00000253812	Transcript	.	G:0.0002	ENSG00000254245	8701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PCDG3_HUMAN	PCDHGA3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000161C1A	SNV	PCDHGA3,synonymous_variant,p.%3D,ENST00000253812,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA2,downstream_gene_variant,,ENST00000528330,;	57	87	53	SUCCESS
FAT2	2196	.	GRCh37	5	150922777	150922777	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	111	0	ENST00000261800.5:c.7911C>T	p.Asn2637=	p.N2637=	ENST00000261800	NM_001447.2	2637	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4317.1	7911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGTTAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	7924	111	49	SUCCESS
DOCK2	1794	.	GRCh37	5	169484584	169484584	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	167	0	ENST00000256935.8:c.4381T>C	p.Ser1461Pro	p.S1461P	ENST00000256935	NM_004946.2	1461	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS4371.1	4381	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGTCCATG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000256935	.	44/52	.	.	.	.	.	.	.	.	.	44/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.915)	.	deleterious(0.04)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Ser522Pro,ENST00000540750,;DOCK2,missense_variant,p.Ser1461Pro,ENST00000256935,;DOCK2,missense_variant,p.Ser953Pro,ENST00000520908,;DOCK2,splice_region_variant,,ENST00000523351,;DOCK2,splice_region_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	4461	167	94	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	181677	181677	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1375141230	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	127	2	ENST00000283426.6:c.3383T>C	p.Phe1128Ser	p.F1128S	ENST00000283426	NM_052909.3	1128	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS34124.1	3383	RADIA|SOMATICSNIPER|VARSCANS	.	GCCATTCATGG	NONE	.	.	hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826,Gene3D:2.30.29.30	.	.	ENSP00000283426	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.677)	.	deleterious(0.02)	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,missense_variant,p.Phe1128Ser,ENST00000283426,;PLEKHG4B,non_coding_transcript_exon_variant,,ENST00000504041,;	3433	129	96	SUCCESS
DDX4	54514	.	GRCh37	5	55083699	55083699	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1430341061	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	154	1	ENST00000505374.1:c.1043C>T	p.Ala348Val	p.A348V	ENST00000505374	NM_024415.2	348	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3969.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCTCATA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF168,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000424838	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000505374	Transcript	.	.	ENSG00000152670	18700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.04)	.	DDX4_HUMAN	DDX4	HGNC	D6RBL3_HUMAN,D6RAF5_HUMAN	.	UPI00001290D3	SNV	DDX4,missense_variant,p.Ala314Val,ENST00000353507,;DDX4,missense_variant,p.Ala328Val,ENST00000506511,;DDX4,missense_variant,p.Ala328Val,ENST00000514278,;DDX4,missense_variant,p.Ala199Val,ENST00000511853,;DDX4,missense_variant,p.Ala314Val,ENST00000354991,;DDX4,missense_variant,p.Ala348Val,ENST00000505374,;DDX4,missense_variant,p.Ala254Val,ENST00000503129,;DDX4,downstream_gene_variant,,ENST00000507645,;	1135	155	118	SUCCESS
GAPT	202309	.	GRCh37	5	57790304	57790304	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	117	1	ENST00000318469.2:c.-60T>C		p.*20*	ENST00000318469				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3975.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAATTACAC	NONE	.	.	.	.	.	ENSP00000379997	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396776	Transcript	.	.	ENSG00000175857	26588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GAPT_HUMAN	GAPT	HGNC	D6RBK7_HUMAN,D6RA63_HUMAN	.	UPI0000039EFF	SNV	GAPT,5_prime_UTR_variant,,ENST00000396776,;GAPT,5_prime_UTR_variant,,ENST00000502276,;GAPT,5_prime_UTR_variant,,ENST00000318469,;GAPT,5_prime_UTR_variant,,ENST00000511930,;GAPT,non_coding_transcript_exon_variant,,ENST00000515443,;GAPT,non_coding_transcript_exon_variant,,ENST00000513924,;GAPT,intron_variant,,ENST00000511178,;	403	118	68	SUCCESS
GPRC6A	222545	.	GRCh37	6	117150115	117150115	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775223423	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	24	155	0	ENST00000310357.3:c.62G>A	p.Cys21Tyr	p.C21Y	ENST00000310357	NM_148963.2	21	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS5112.1	62	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCAAGGC	NONE	byFrequency	.	hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061	.	.	ENSP00000309493	.	1/6	.	.	.	.	.	.	.	.	rs775223423	1/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0.02)	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,missense_variant,p.Cys21Tyr,ENST00000310357,;GPRC6A,missense_variant,p.Cys21Tyr,ENST00000368549,;GPRC6A,missense_variant,p.Cys21Tyr,ENST00000530250,;	84	155	152	SUCCESS
MAP7	9053	.	GRCh37	6	136742909	136742909	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	68	306	1	ENST00000354570.3:c.96G>A	p.Lys32=	p.K32=	ENST00000354570	NM_001198616.1	32	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS56455.1	162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCTTATC	NONE	.	.	hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4	.	.	ENSP00000414712	.	3/19	.	.	.	.	.	.	.	.	COSM3920784	3/19	PASS	ENST00000454590	Transcript	.	.	ENSG00000135525	6869	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MAP7_HUMAN	MAP7	HGNC	.	.	UPI0001AE72EF	SNV	MAP7,synonymous_variant,p.%3D,ENST00000544465,;MAP7,synonymous_variant,p.%3D,ENST00000454590,;MAP7,synonymous_variant,p.%3D,ENST00000354570,;MAP7,synonymous_variant,p.%3D,ENST00000438100,;MAP7,5_prime_UTR_variant,,ENST00000432797,;RP3-406A7.5,upstream_gene_variant,,ENST00000405850,;	280	307	272	SUCCESS
OR2B6	26212	.	GRCh37	6	27925139	27925139	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766928394	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	334	14	411	0	ENST00000244623.1:c.121G>A	p.Gly41Ser	p.G41S	ENST00000244623	NM_012367.1	41	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS4642.1	121	MUTECT|MUSE	.	TCTTTGGCAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF202,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000244623	.	1/1	.	.	.	.	.	.	.	.	rs766928394	1/1	PASS	ENST00000244623	Transcript	.	.	ENSG00000124657	8241	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.318)	.	deleterious(0.01)	.	OR2B6_HUMAN	OR2B6	HGNC	.	.	UPI000003F061	SNV	OR2B6,missense_variant,p.Gly41Ser,ENST00000244623,;	121	411	348	SUCCESS
PPT2	9374	.	GRCh37	6	32123651	32123651	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749336768	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	246	60	304	0	ENST00000324816.6:c.437C>T	p.Thr146Met	p.T146M	ENST00000324816		146	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS4740.1	455	RADIA|MUTECT|MUSE|VARSCANS	.	AGACACGGACT	NONE	byFrequency	.	hmmpanther:PTHR11247:SF22,hmmpanther:PTHR11247,Gene3D:3.40.50.1820,Pfam_domain:PF02089,Superfamily_domains:SSF53474	.	.	ENSP00000354608	.	5/9	.	.	.	.	.	.	.	.	rs749336768	5/9	PASS	ENST00000361568	Transcript	.	.	ENSG00000221988	9326	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	.	PPT2	HGNC	G8JLL2_HUMAN,G8JLE1_HUMAN	.	UPI0000457411	SNV	PPT2,missense_variant,p.Thr146Met,ENST00000395523,;PPT2,missense_variant,p.Thr146Met,ENST00000324816,;PPT2,missense_variant,p.Thr146Met,ENST00000375143,;PPT2,missense_variant,p.Thr68Met,ENST00000424499,;PPT2,missense_variant,p.Thr146Met,ENST00000375137,;PPT2,missense_variant,p.Thr146Met,ENST00000414204,;PPT2,missense_variant,p.Thr152Met,ENST00000361568,;PPT2,missense_variant,p.Thr146Met,ENST00000445576,;PPT2,missense_variant,p.Thr23Met,ENST00000437001,;PRRT1,upstream_gene_variant,,ENST00000211413,;PRRT1,upstream_gene_variant,,ENST00000375150,;PRRT1,upstream_gene_variant,,ENST00000428778,;PRRT1,upstream_gene_variant,,ENST00000375152,;PPT2-EGFL8,non_coding_transcript_exon_variant,,ENST00000453656,;PPT2,non_coding_transcript_exon_variant,,ENST00000478521,;PPT2,non_coding_transcript_exon_variant,,ENST00000493548,;PRRT1,upstream_gene_variant,,ENST00000472641,;PRRT1,upstream_gene_variant,,ENST00000485392,;PPT2,downstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000497552,;PRRT1,upstream_gene_variant,,ENST00000494332,;PRRT1,upstream_gene_variant,,ENST00000498575,;PRRT1,upstream_gene_variant,,ENST00000475826,;PRRT1,upstream_gene_variant,,ENST00000486917,;PPT2-EGFL8,missense_variant,p.Arg95Trp,ENST00000585246,;PPT2-EGFL8,missense_variant,p.Thr146Met,ENST00000428388,;PPT2-EGFL8,missense_variant,p.Arg95Trp,ENST00000583227,;PPT2-EGFL8,missense_variant,p.Thr146Met,ENST00000422437,;PPT2,missense_variant,p.Arg95Trp,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000479001,;PPT2,upstream_gene_variant,,ENST00000495908,;PRRT1,upstream_gene_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000421600,;	559	304	306	SUCCESS
SNAPC5P1	100750245	.	GRCh37	6	6347594	6347594	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	34	0	ENST00000403621.1:n.21C>G		p.*7*	ENST00000403621				0	.	.	.	.	.	C	.	transcribed_processed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCAGTTCCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000403621	Transcript	.	.	ENSG00000241216	38667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SNAPC5P1	HGNC	.	.	.	SNV	LY86-AS1,non_coding_transcript_exon_variant,,ENST00000429345,;SNAPC5P1,non_coding_transcript_exon_variant,,ENST00000403621,;	21	34	29	SUCCESS
NYAP1	222950	.	GRCh37	7	100085893	100085893	+	synonymous_variant	Silent	SNP	C	C	T	rs1199334813	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	116	1	ENST00000300179.2:c.549C>T	p.Gly183=	p.G183=	ENST00000300179	NM_173564.3	183	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5696.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCCCCTC	NONE	.	.	hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	.	.	ENSP00000300179	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,synonymous_variant,p.%3D,ENST00000454988,;NYAP1,synonymous_variant,p.%3D,ENST00000423930,;NYAP1,synonymous_variant,p.%3D,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	708	117	57	SUCCESS
SLC12A9	56996	.	GRCh37	7	100452001	100452001	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	334	129	537	0	ENST00000354161.3:c.181+1G>T		p.X61_splice	ENST00000354161	NM_020246.3	61		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5707.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGGTGAGT	NONE	.	.	.	.	.	ENSP00000275730	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354161	Transcript	.	.	ENSG00000146828	17435	.	.	HIGH	2/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S12A9_HUMAN	SLC12A9	HGNC	D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN	.	UPI000006CD28	SNV	SLC12A9,splice_donor_variant,,ENST00000354161,;SLC12A9,splice_donor_variant,,ENST00000416675,;SLC12A9,splice_donor_variant,,ENST00000275729,;SLC12A9,splice_donor_variant,,ENST00000415287,;SLC12A9,splice_donor_variant,,ENST00000434158,;SLC12A9,splice_donor_variant,,ENST00000428758,;SLC12A9,splice_donor_variant,,ENST00000540482,;SLC12A9,intron_variant,,ENST00000418037,;RP11-126L15.4,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,splice_donor_variant,,ENST00000462106,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,upstream_gene_variant,,ENST00000467972,;SLC12A9,upstream_gene_variant,,ENST00000475687,;SLC12A9,upstream_gene_variant,,ENST00000497958,;	.	537	463	SUCCESS
MUC17	140453	.	GRCh37	7	100678400	100678400	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs760718941	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	101	0	ENST00000306151.4:c.3703G>T	p.Glu1235Ter	p.E1235*	ENST00000306151	NM_001040105.1	1235	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34711.1	3703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTGAGGCT	NONE	byFrequency	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	rs760718941	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,stop_gained,p.Glu1235Ter,ENST00000306151,;MUC17,stop_gained,p.Glu1235Ter,ENST00000379439,;	3767	101	85	SUCCESS
UBE2H	7328	.	GRCh37	7	129520790	129520790	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	94	0	ENST00000355621.3:c.75T>C	p.Val25=	p.V25=	ENST00000355621	NM_003344.3	25	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS5814.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGTAACCTC	NONE	.	.	hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF0,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000347836	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000355621	Transcript	.	.	ENSG00000186591	12484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE2H_HUMAN	UBE2H	HGNC	A4D1L5_HUMAN	.	UPI0000006BD3	SNV	UBE2H,synonymous_variant,p.%3D,ENST00000490974,;UBE2H,synonymous_variant,p.%3D,ENST00000472396,;UBE2H,synonymous_variant,p.%3D,ENST00000355621,;UBE2H,synonymous_variant,p.%3D,ENST00000473814,;UBE2H,5_prime_UTR_variant,,ENST00000496698,;UBE2H,synonymous_variant,p.%3D,ENST00000480245,;UBE2H,non_coding_transcript_exon_variant,,ENST00000486283,;	469	94	103	SUCCESS
BZW2	28969	.	GRCh37	7	16720997	16720997	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	93	1	ENST00000258761.3:c.307G>T	p.Glu103Ter	p.E103*	ENST00000258761	NM_014038.2	103	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS5362.1	307	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGAAGAT	NONE	.	.	hmmpanther:PTHR14208,hmmpanther:PTHR14208:SF1	.	.	ENSP00000397249	.	4/12	.	.	.	.	.	.	.	.	COSM461623	4/12	PASS	ENST00000433922	Transcript	.	.	ENSG00000136261	18808	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	BZW2_HUMAN	BZW2	HGNC	Q75MG1_HUMAN,E7ETZ4_HUMAN,E7EMS9_HUMAN,C9JF98_HUMAN,B5MCH7_HUMAN,B5MCE7_HUMAN	.	UPI000003B445	SNV	BZW2,stop_gained,p.Glu103Ter,ENST00000433922,;BZW2,stop_gained,p.Glu103Ter,ENST00000415365,;BZW2,stop_gained,p.Glu103Ter,ENST00000430000,;BZW2,stop_gained,p.Glu103Ter,ENST00000438834,;BZW2,stop_gained,p.Glu103Ter,ENST00000258761,;BZW2,stop_gained,p.Glu103Ter,ENST00000446596,;BZW2,stop_gained,p.Glu27Ter,ENST00000405202,;BZW2,stop_gained,p.Glu103Ter,ENST00000452975,;BZW2,non_coding_transcript_exon_variant,,ENST00000432311,;BZW2,stop_gained,p.Glu103Ter,ENST00000437745,;BZW2,stop_gained,p.Glu103Ter,ENST00000436868,;BZW2,non_coding_transcript_exon_variant,,ENST00000480517,;	485	94	92	SUCCESS
ZFPM2	23414	.	GRCh37	8	106331179	106331179	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	24	141	0	ENST00000407775.2:c.10C>T	p.Arg4Ter	p.R4*	ENST00000407775	NM_012082.3	4	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS47908.1	10	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGAAAG	NONE	.	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	1/8	.	.	.	.	.	.	.	.	COSM1453960	1/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,stop_gained,p.Arg4Ter,ENST00000407775,;ZFPM2,upstream_gene_variant,,ENST00000520492,;RP11-127H5.1,intron_variant,,ENST00000518180,;	260	141	176	SUCCESS
ANGPT1	284	.	GRCh37	8	108297062	108297062	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	206	34	184	1	ENST00000517746.1:c.1053C>A	p.Pro351=	p.P351=	ENST00000517746	NM_001199859.1	351	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6306.1	1053	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGAGGGATT	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000428340	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000517746	Transcript	.	.	ENSG00000154188	484	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANGP1_HUMAN	ANGPT1	HGNC	E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN	.	UPI0000034766	SNV	ANGPT1,synonymous_variant,p.%3D,ENST00000520734,;ANGPT1,synonymous_variant,p.%3D,ENST00000517746,;ANGPT1,synonymous_variant,p.%3D,ENST00000520052,;ANGPT1,synonymous_variant,p.%3D,ENST00000297450,;ANGPT1,intron_variant,,ENST00000518386,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000522400,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000521950,;	1505	185	241	SUCCESS
ADCY8	114	.	GRCh37	8	131797673	131797673	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	106	0	ENST00000286355.5:c.3109G>A	p.Gly1037Ser	p.G1037S	ENST00000286355	NM_001115.2	1037	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS6363.1	3109	MUTECT|MUSE|VARSCANS	.	GCTGCCAATGG	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	deleterious(0)	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Gly1037Ser,ENST00000286355,;ADCY8,missense_variant,p.Gly906Ser,ENST00000377928,;	5202	106	90	SUCCESS
TG	7038	.	GRCh37	8	133961019	133961019	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	54	174	0	ENST00000220616.4:c.5234-2A>G		p.X1745_splice	ENST00000220616	NM_003235.4	1745		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34944.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCAGGTGC	NONE	.	.	.	.	.	ENSP00000220616	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	HIGH	26/47	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,splice_acceptor_variant,,ENST00000220616,;TG,splice_acceptor_variant,,ENST00000377869,;TG,splice_acceptor_variant,,ENST00000542445,;TG,splice_acceptor_variant,,ENST00000519178,;TG,splice_acceptor_variant,,ENST00000523756,;	.	174	236	SUCCESS
SGCZ	137868	.	GRCh37	8	13948074	13948074	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	90	1	ENST00000382080.1:c.817T>A	p.Ser273Thr	p.S273T	ENST00000382080	NM_139167.2	273	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS5992.2	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGAGCTGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5	.	.	ENSP00000371512	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000382080	Transcript	.	.	ENSG00000185053	14075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.57)	.	SGCZ_HUMAN	SGCZ	HGNC	.	.	UPI00002339F6	SNV	SGCZ,missense_variant,p.Ser273Thr,ENST00000382080,;SGCZ,missense_variant,p.Ser226Thr,ENST00000421524,;	1533	91	54	SUCCESS
PROSC	0	.	GRCh37	8	37633525	37633525	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	66	0	ENST00000328195.3:c.687C>A	p.Phe229Leu	p.F229L	ENST00000328195	NM_007198.3	229	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS6096.1	687	RADIA|VARSCANS	.	GATTTCCAGCA	NONE	.	.	hmmpanther:PTHR10146,Gene3D:3.20.20.10,TIGRFAM_domain:TIGR00044,Pfam_domain:PF01168,PIRSF_domain:PIRSF004848,Superfamily_domains:SSF51419	.	.	ENSP00000333551	.	7/8	.	.	.	.	.	.	.	.	COSM3648758	7/8	PASS	ENST00000328195	Transcript	.	.	ENSG00000147471	9457	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.612)	.	deleterious(0.02)	1	PROSC_HUMAN	PROSC	HGNC	E5RG77_HUMAN,E5RFX7_HUMAN,D3DSW3_HUMAN	.	UPI0000131F89	SNV	PROSC,missense_variant,p.Phe229Leu,ENST00000328195,;PROSC,downstream_gene_variant,,ENST00000523187,;PROSC,downstream_gene_variant,,ENST00000523358,;PROSC,downstream_gene_variant,,ENST00000523521,;PROSC,non_coding_transcript_exon_variant,,ENST00000522808,;PROSC,downstream_gene_variant,,ENST00000518036,;PROSC,downstream_gene_variant,,ENST00000521631,;	754	66	34	SUCCESS
ZNF189	7743	.	GRCh37	9	104171115	104171115	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	133	0	ENST00000339664.2:c.1065G>A	p.Arg355=	p.R355=	ENST00000339664	NM_001278240.1	355	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6754.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGGAGCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF123,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000342019	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000339664	Transcript	.	.	ENSG00000136870	12980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN189_HUMAN	ZNF189	HGNC	.	.	UPI000013FAD5	SNV	ZNF189,synonymous_variant,p.%3D,ENST00000339664,;ZNF189,synonymous_variant,p.%3D,ENST00000259395,;ZNF189,synonymous_variant,p.%3D,ENST00000374861,;	1194	133	73	SUCCESS
DMRT2	10655	.	GRCh37	9	1056606	1056606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	122	0	ENST00000358146.2:c.1019G>T	p.Arg340Ile	p.R340I	ENST00000358146		340	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS6444.1	1019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGATTTT	NONE	.	.	hmmpanther:PTHR12322:SF59,hmmpanther:PTHR12322	.	.	ENSP00000371686	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000382251	Transcript	.	.	ENSG00000173253	2935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	DMRT2_HUMAN	DMRT2	HGNC	.	.	UPI000013D066	SNV	DMRT2,missense_variant,p.Arg340Ile,ENST00000302441,;DMRT2,missense_variant,p.Arg340Ile,ENST00000382251,;DMRT2,missense_variant,p.Arg340Ile,ENST00000358146,;DMRT2,3_prime_UTR_variant,,ENST00000259622,;DMRT2,3_prime_UTR_variant,,ENST00000382255,;DMRT2,downstream_gene_variant,,ENST00000412350,;	1348	122	78	SUCCESS
CYLC2	1539	.	GRCh37	9	105767037	105767037	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	35	183	0	ENST00000374798.3:c.241T>C	p.Leu81=	p.L81=	ENST00000374798	NM_001340.3	81	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS35085.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTTAATG	NONE	.	.	hmmpanther:PTHR16742,Pfam_domain:PF15241	.	.	ENSP00000420256	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000374798	Transcript	.	.	ENSG00000155833	2583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,synonymous_variant,p.%3D,ENST00000374798,;CYLC2,synonymous_variant,p.%3D,ENST00000487798,;	311	183	116	SUCCESS
OR13C9	286362	.	GRCh37	9	107379994	107379994	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	59	247	0	ENST00000259362.1:c.492A>G	p.Val164=	p.V164=	ENST00000259362	NM_001001956.1	164	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS35093.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGTACTAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF143,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000259362	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259362	Transcript	.	.	ENSG00000136839	15104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O13C9_HUMAN	OR13C9	HGNC	Q8NGV4_HUMAN	.	UPI0000041D56	SNV	OR13C9,synonymous_variant,p.%3D,ENST00000259362,;	492	248	188	SUCCESS
SUSD1	64420	.	GRCh37	9	114820918	114820918	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	110	0	ENST00000374270.3:c.1899T>A	p.Ser633=	p.S633=	ENST00000374270	NM_022486.3	633	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6783.1	1899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAAGAAAA	NONE	.	.	hmmpanther:PTHR24051	.	.	ENSP00000363388	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000374270	Transcript	.	.	ENSG00000106868	25413	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUSD1_HUMAN	SUSD1	HGNC	.	.	UPI0000049E0D	SNV	SUSD1,synonymous_variant,p.%3D,ENST00000374263,;SUSD1,synonymous_variant,p.%3D,ENST00000355396,;SUSD1,synonymous_variant,p.%3D,ENST00000374270,;SUSD1,synonymous_variant,p.%3D,ENST00000374264,;SUSD1,upstream_gene_variant,,ENST00000475283,;	2072	110	93	SUCCESS
ALAD	210	.	GRCh37	9	116151330	116151330	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	96	0	ENST00000409155.3:c.858G>C	p.Trp286Cys	p.W286C	ENST00000409155	NM_000031.5	286	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS6794.2	858	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCCACAG	NONE	.	.	hmmpanther:PTHR11458,hmmpanther:PTHR11458:SF0,Gene3D:3.20.20.70,Pfam_domain:PF00490,SMART_domains:SM01004,PIRSF_domain:PIRSF001415,Superfamily_domains:SSF51569,Prints_domain:PR00144	.	.	ENSP00000386284	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000409155	Transcript	.	.	ENSG00000148218	395	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.18)	.	HEM2_HUMAN	ALAD	HGNC	.	.	UPI0000037431	SNV	ALAD,missense_variant,p.Trp269Cys,ENST00000277315,;ALAD,missense_variant,p.Trp286Cys,ENST00000409155,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000448137,;ALAD,downstream_gene_variant,,ENST00000445750,;ALAD,downstream_gene_variant,,ENST00000482001,;ALAD,non_coding_transcript_exon_variant,,ENST00000482847,;ALAD,downstream_gene_variant,,ENST00000494848,;ALAD,downstream_gene_variant,,ENST00000468504,;ALAD,downstream_gene_variant,,ENST00000464749,;	1055	96	60	SUCCESS
CACNA1B	774	.	GRCh37	9	141000176	141000176	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	33	0	ENST00000371372.1:c.5345T>C	p.Ile1782Thr	p.I1782T	ENST00000371372	NM_001243812.1	1782	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS59522.1	5345	RADIA|VARSCANS	.	GCCCATCTCCA	NONE	.	.	hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	39/47	.	.	.	.	.	.	.	.	.	39/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.24)	.	deleterious(0.01)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Ile147Thr,ENST00000413253,;CACNA1B,missense_variant,p.Ile1783Thr,ENST00000371355,;CACNA1B,missense_variant,p.Ile1781Thr,ENST00000371357,;CACNA1B,missense_variant,p.Ile976Thr,ENST00000277549,;CACNA1B,missense_variant,p.Ile1782Thr,ENST00000277551,;CACNA1B,missense_variant,p.Ile146Thr,ENST00000371365,;CACNA1B,missense_variant,p.Ile1780Thr,ENST00000371363,;CACNA1B,missense_variant,p.Ile1782Thr,ENST00000371372,;	5490	33	32	SUCCESS
IFNA4	3441	.	GRCh37	9	21187344	21187344	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs142712065	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	92	421	1	ENST00000421715.1:c.187G>C	p.Glu63Gln	p.E63Q	ENST00000421715	NM_021068.2	63	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS6498.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCGGGGA	BUFFER|p.F59F|c.177C>T|3	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29	.	.	ENSP00000412897	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000421715	Transcript	.	.	ENSG00000236637	5425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	IFNA4_HUMAN	IFNA4	HGNC	Q9UMJ2_HUMAN	.	UPI000002BA77	SNV	IFNA4,missense_variant,p.Glu63Gln,ENST00000421715,;IFNWP9,downstream_gene_variant,,ENST00000448683,;	255	423	299	SUCCESS
TMSB15B	286527	.	GRCh37	X	103216806	103216806	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	86	0	ENST00000419165.1:c.-508G>A		p.*170*	ENST00000419165	NM_194324.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59172.1	.	RADIA|VARSCANS	.	CTTCGGTGAGC	NONE	.	436	.	.	.	ENSP00000455771	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436583	Transcript	.	.	ENSG00000158427	28612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TB15B_HUMAN	TMSB15B	HGNC	.	.	UPI000004716D	SNV	TMSB15B,5_prime_UTR_variant,,ENST00000419165,;TMSB15B,upstream_gene_variant,,ENST00000569577,;TMSB15B,upstream_gene_variant,,ENST00000563257,;TMSB15B,upstream_gene_variant,,ENST00000540220,;TMSB15B,upstream_gene_variant,,ENST00000567181,;TMSB15B,upstream_gene_variant,,ENST00000436583,;DPPA3P1,non_coding_transcript_exon_variant,,ENST00000451146,;DPPA3P1,non_coding_transcript_exon_variant,,ENST00000448050,;	.	86	42	SUCCESS
TENM1	10178	.	GRCh37	X	123517526	123517526	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	315	0	ENST00000371130.3:c.7234T>A	p.Tyr2412Asn	p.Y2412N	ENST00000371130	NM_014253.3	2412	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS55488.1	7255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTAGTTAT	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Tyr2419Asn,ENST00000422452,;TENM1,missense_variant,p.Tyr2412Asn,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	7319	315	123	SUCCESS
GPR112	0	.	GRCh37	X	135453612	135453612	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761730115	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	78	420	1	ENST00000370652.1:c.7522A>G	p.Met2508Val	p.M2508V	ENST00000370652		2508	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS35409.1	7522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTATGAAC	NONE	byFrequency	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	14/26	.	.	.	.	.	.	.	.	rs761730115	14/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.23)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Met2306Val,ENST00000287534,;GPR112,missense_variant,p.Met2508Val,ENST00000370652,;GPR112,missense_variant,p.Met2508Val,ENST00000394143,;GPR112,missense_variant,p.Met2303Val,ENST00000394141,;GPR112,missense_variant,p.Met2303Val,ENST00000412101,;	7813	421	172	SUCCESS
HCFC1	3054	.	GRCh37	X	153222832	153222832	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	82	360	1	ENST00000310441.7:c.2286G>A	p.Lys762=	p.K762=	ENST00000310441	NM_005334.2	762	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS44020.1	2286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCTTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF266	.	.	ENSP00000309555	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000310441	Transcript	.	.	ENSG00000172534	4839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCFC1_HUMAN	HCFC1	HGNC	Q05C05_HUMAN	.	UPI0000142F1F	SNV	HCFC1,synonymous_variant,p.%3D,ENST00000369984,;HCFC1,synonymous_variant,p.%3D,ENST00000310441,;HCFC1,synonymous_variant,p.%3D,ENST00000354233,;HCFC1,upstream_gene_variant,,ENST00000444191,;HCFC1,downstream_gene_variant,,ENST00000461098,;	3253	361	190	SUCCESS
ASAH2	56624	.	GRCh37	10	52008360	52008360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376205298	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	91	0	ENST00000395526.4:c.11G>A	p.Arg4His	p.R4H	ENST00000395526	NM_019893.2	4	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7239.2	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCGTTTG	NONE	byCluster	.	.	.	T:0.0001	ENSP00000378897	.	1/20	.	.	.	.	.	.	.	.	rs376205298	1/20	PASS	ENST00000395526	Transcript	.	.	ENSG00000188611	18860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.1)	.	ASAH2_HUMAN	ASAH2	HGNC	.	.	UPI00004042A7	SNV	ASAH2,missense_variant,p.Arg4His,ENST00000447815,;ASAH2,missense_variant,p.Arg4His,ENST00000395526,;ASAH2,upstream_gene_variant,,ENST00000329428,;	11	91	97	SUCCESS
EIF4G2	1982	.	GRCh37	11	10821282	10821282	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	109	0	ENST00000526148.1:c.2141G>A	p.Arg714His	p.R714H	ENST00000526148	NM_001172705.1	714	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS31428.1	2141	RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCGGTCC	NONE	.	.	hmmpanther:PTHR23253,Gene3D:1.25.40.180,Superfamily_domains:SSF48371	.	.	ENSP00000433664	.	19/22	.	.	.	.	.	.	.	.	COSM180712	19/22	PASS	ENST00000526148	Transcript	.	.	ENSG00000110321	3297	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.882)	.	deleterious(0)	1	.	EIF4G2	HGNC	Q59G42_HUMAN,Q2TU89_HUMAN,H0YEN8_HUMAN,H0YEC5_HUMAN,H0YDC0_HUMAN,H0YD99_HUMAN,H0YD77_HUMAN,H0YCF8_HUMAN,D3DQV9_HUMAN,B4DZF2_HUMAN	.	UPI000013C8BE	SNV	EIF4G2,missense_variant,p.Arg676His,ENST00000396525,;EIF4G2,missense_variant,p.Arg714His,ENST00000339995,;EIF4G2,missense_variant,p.Arg714His,ENST00000525681,;EIF4G2,missense_variant,p.Arg714His,ENST00000526148,;EIF4G2,intron_variant,,ENST00000528839,;EIF4G2,downstream_gene_variant,,ENST00000532082,;EIF4G2,downstream_gene_variant,,ENST00000531416,;EIF4G2,downstream_gene_variant,,ENST00000527419,;EIF4G2,downstream_gene_variant,,ENST00000531180,;EIF4G2,downstream_gene_variant,,ENST00000524932,;EIF4G2,downstream_gene_variant,,ENST00000532570,;SNORD97,downstream_gene_variant,,ENST00000459187,;RP11-685M7.5,intron_variant,,ENST00000532365,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000534272,;EIF4G2,intron_variant,,ENST00000532120,;EIF4G2,downstream_gene_variant,,ENST00000531507,;EIF4G2,downstream_gene_variant,,ENST00000525972,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000532383,;EIF4G2,downstream_gene_variant,,ENST00000528562,;EIF4G2,downstream_gene_variant,,ENST00000527015,;EIF4G2,downstream_gene_variant,,ENST00000532349,;EIF4G2,downstream_gene_variant,,ENST00000534605,;EIF4G2,downstream_gene_variant,,ENST00000530564,;EIF4G2,downstream_gene_variant,,ENST00000532152,;EIF4G2,downstream_gene_variant,,ENST00000531647,;EIF4G2,upstream_gene_variant,,ENST00000534470,;EIF4G2,upstream_gene_variant,,ENST00000525606,;	2652	109	104	SUCCESS
ROBO4	54538	.	GRCh37	11	124763622	124763622	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	99	181	1	ENST00000306534.3:c.1509G>T	p.Leu503=	p.L503=	ENST00000306534	NM_019055.5	503	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8455.1	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTACAGACC	NONE	.	.	hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489	.	.	ENSP00000304945	.	10/18	.	.	.	.	.	.	.	.	COSM3808685	10/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,synonymous_variant,p.%3D,ENST00000306534,;ROBO4,synonymous_variant,p.%3D,ENST00000533054,;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,downstream_gene_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,downstream_gene_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000525182,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532216,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,downstream_gene_variant,,ENST00000532300,;ROBO4,downstream_gene_variant,,ENST00000533337,;	1995	183	258	SUCCESS
NCAPD3	23310	.	GRCh37	11	134029862	134029862	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	53	93	0	ENST00000534548.2:c.3792C>T	p.Val1264=	p.V1264=	ENST00000534548	NM_015261.2	1264	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31723.1	3792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGACCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222	.	.	ENSP00000433681	.	29/35	.	.	.	.	.	.	.	.	.	29/35	PASS	ENST00000534548	Transcript	.	.	ENSG00000151503	28952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNDD3_HUMAN	NCAPD3	HGNC	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN	.	UPI00001C1EFE	SNV	NCAPD3,synonymous_variant,p.%3D,ENST00000534548,;NCAPD3,synonymous_variant,p.%3D,ENST00000527944,;NCAPD3,downstream_gene_variant,,ENST00000530396,;NCAPD3,3_prime_UTR_variant,,ENST00000525964,;NCAPD3,3_prime_UTR_variant,,ENST00000534532,;NCAPD3,upstream_gene_variant,,ENST00000525432,;	3857	93	109	SUCCESS
NXF1	10482	.	GRCh37	11	62566040	62566040	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	68	0	ENST00000294172.2:c.1024C>G	p.Arg342Gly	p.R342G	ENST00000294172	NM_006362.4	342	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS8037.1	1024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGCGAATGG	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR10662:SF27,hmmpanther:PTHR10662	.	.	ENSP00000436679	.	12/22	.	.	.	.	.	.	.	.	COSM3451087	12/22	PASS	ENST00000532297	Transcript	.	.	ENSG00000162231	8071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.459)	.	deleterious(0.04)	1	NXF1_HUMAN	NXF1	HGNC	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN	.	UPI00000012B9	SNV	NXF1,missense_variant,p.Arg342Gly,ENST00000532297,;NXF1,missense_variant,p.Arg385Gly,ENST00000530875,;NXF1,missense_variant,p.Arg342Gly,ENST00000294172,;NXF1,3_prime_UTR_variant,,ENST00000531709,;NXF1,downstream_gene_variant,,ENST00000531474,;NXF1,downstream_gene_variant,,ENST00000533671,;NXF1,upstream_gene_variant,,ENST00000527902,;NXF1,downstream_gene_variant,,ENST00000439713,;NXF1,downstream_gene_variant,,ENST00000531131,;NXF1,intron_variant,,ENST00000531579,;NXF1,upstream_gene_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000526163,;NXF1,non_coding_transcript_exon_variant,,ENST00000531872,;NXF1,upstream_gene_variant,,ENST00000533440,;NXF1,downstream_gene_variant,,ENST00000525576,;NXF1,downstream_gene_variant,,ENST00000527064,;NXF1,upstream_gene_variant,,ENST00000533499,;NXF1,upstream_gene_variant,,ENST00000527497,;	1654	68	88	SUCCESS
MYO7A	4647	.	GRCh37	11	76917166	76917166	+	synonymous_variant	Silent	SNP	G	G	A	rs375627342	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	52	0	ENST00000409709.3:c.5661G>A	p.Pro1887=	p.P1887=	ENST00000409709	NM_000260.3	1887	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS53683.1	5661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGCACCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51016,Pfam_domain:PF00784,SMART_domains:SM00139	.	A:0	ENSP00000386331	.	41/49	.	.	.	.	.	.	.	.	rs375627342,COSM932154	41/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,synonymous_variant,p.%3D,ENST00000458169,;MYO7A,synonymous_variant,p.%3D,ENST00000409619,;MYO7A,synonymous_variant,p.%3D,ENST00000409709,;MYO7A,synonymous_variant,p.%3D,ENST00000458637,;MYO7A,non_coding_transcript_exon_variant,,ENST00000605744,;MYO7A,upstream_gene_variant,,ENST00000526863,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;	5933	52	71	SUCCESS
STAB2	55576	.	GRCh37	12	104062497	104062497	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	34	0	ENST00000388887.2:c.2162C>T	p.Ala721Val	p.A721V	ENST00000388887	NM_017564.9	721	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31888.1	2162	RADIA|VARSCANS	.	CAATGCCACTG	NONE	.	.	hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038	.	.	ENSP00000373539	.	20/69	.	.	.	.	.	.	.	.	.	20/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.34)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Ala721Val,ENST00000388887,;RP11-341G23.3,non_coding_transcript_exon_variant,,ENST00000550175,;	2366	34	38	SUCCESS
C1QTNF9B-AS1	0	.	GRCh37	13	24465321	24465321	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	52	0	ENST00000382133.4:n.167-203A>G		p.*56*	ENST00000382133				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31947.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATGATT	NONE	.	67	.	.	.	ENSP00000371572	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382137	Transcript	.	.	ENSG00000205863	34072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1T9B_HUMAN	C1QTNF9B	HGNC	.	.	UPI000004F070	SNV	C1QTNF9B,3_prime_UTR_variant,,ENST00000382145,;MIPEP,upstream_gene_variant,,ENST00000382172,;C1QTNF9B,downstream_gene_variant,,ENST00000382137,;C1QTNF9B,downstream_gene_variant,,ENST00000382057,;C1QTNF9B,downstream_gene_variant,,ENST00000382140,;C1QTNF9B-AS1,intron_variant,,ENST00000435039,;C1QTNF9B-AS1,intron_variant,,ENST00000382133,;C1QTNF9B-AS1,upstream_gene_variant,,ENST00000417034,;C1QTNF9B,downstream_gene_variant,,ENST00000556521,;MIPEP,upstream_gene_variant,,ENST00000469167,;	.	52	27	SUCCESS
RTL1	388015	.	GRCh37	14	101348750	101348750	+	synonymous_variant	Silent	SNP	G	G	A	rs1373326953	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	61	114	0	ENST00000534062.1:c.2376C>T	p.Asn792=	p.N792=	ENST00000534062	NM_001134888.2	792	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS53910.1	2376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACGTTCTT	NONE	.	.	Superfamily_domains:SSF56672	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,synonymous_variant,p.%3D,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	2435	114	140	SUCCESS
PACS2	23241	.	GRCh37	14	105858084	105858084	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782373206	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	61	0	ENST00000325438.8:c.2191G>A	p.Gly731Arg	p.G731R	ENST00000325438		731	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS45178.2	2236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGGAGGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF10254,hmmpanther:PTHR13280:SF15,hmmpanther:PTHR13280	.	.	ENSP00000399732	.	22/25	.	.	.	.	.	.	.	.	rs782373206	22/25	PASS	ENST00000458164	Transcript	.	.	ENSG00000179364	23794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.816)	.	tolerated(0.09)	.	PACS2_HUMAN	PACS2	HGNC	F8W0V0_HUMAN,F8W0B1_HUMAN	.	UPI0000E56F01	SNV	PACS2,missense_variant,p.Gly245Arg,ENST00000551743,;PACS2,missense_variant,p.Gly746Arg,ENST00000458164,;PACS2,missense_variant,p.Gly735Arg,ENST00000447393,;PACS2,missense_variant,p.Gly701Arg,ENST00000547217,;PACS2,missense_variant,p.Gly731Arg,ENST00000325438,;PACS2,missense_variant,p.Gly656Arg,ENST00000430725,;PACS2,5_prime_UTR_variant,,ENST00000551801,;PACS2,non_coding_transcript_exon_variant,,ENST00000551692,;PACS2,non_coding_transcript_exon_variant,,ENST00000549030,;PACS2,non_coding_transcript_exon_variant,,ENST00000548796,;PACS2,downstream_gene_variant,,ENST00000547903,;PACS2,upstream_gene_variant,,ENST00000550790,;AL928654.1,upstream_gene_variant,,ENST00000542059,;	2411	61	68	SUCCESS
ZBTB1	22890	.	GRCh37	14	64989700	64989700	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	80	0	ENST00000554015.1:c.1478A>G	p.Asn493Ser	p.N493S	ENST00000554015		493	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS45126.1	1478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAATCCTG	NONE	.	.	hmmpanther:PTHR11389:SF326,hmmpanther:PTHR11389	.	.	ENSP00000378201	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394712	Transcript	.	.	ENSG00000126804	20259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.76)	.	ZBTB1_HUMAN	ZBTB1	HGNC	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN	.	UPI00001FD6B2	SNV	ZBTB1,missense_variant,p.Asn493Ser,ENST00000394712,;ZBTB1,missense_variant,p.Asn493Ser,ENST00000554015,;ZBTB1,missense_variant,p.Asn493Ser,ENST00000358738,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;	1869	80	87	SUCCESS
ZDHHC22	283576	.	GRCh37	14	77606003	77606003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	33	0	ENST00000319374.4:c.79C>T	p.Leu27Phe	p.L27F	ENST00000319374	NM_174976.2	27	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS45140.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGCTGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22883:SF12,hmmpanther:PTHR22883	.	.	ENSP00000318222	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000319374	Transcript	.	.	ENSG00000177108	20106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.48)	.	ZDH22_HUMAN	ZDHHC22	HGNC	G3V3N3_HUMAN,G3V259_HUMAN	.	UPI000059D283	SNV	ZDHHC22,missense_variant,p.Leu27Phe,ENST00000319374,;ZDHHC22,missense_variant,p.Leu27Phe,ENST00000555327,;ZDHHC22,missense_variant,p.Leu27Phe,ENST00000555389,;TMEM63C,intron_variant,,ENST00000557408,;AC007375.1,upstream_gene_variant,,ENST00000600936,;RP11-463C8.4,intron_variant,,ENST00000557752,;	282	33	48	SUCCESS
STON2	85439	.	GRCh37	14	81744756	81744756	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201611443	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	15	122	0	ENST00000267540.2:c.899C>T	p.Thr300Met	p.T300M	ENST00000267540	NM_033104.3	300	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS58332.1	899	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGTGCGG	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF037099,Pfam_domain:PF12016,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19	.	A:0.0002	ENSP00000450857	.	6/8	.	.	.	.	.	.	.	.	rs201611443,COSM958357	6/8	PASS	ENST00000555447	Transcript	.	.	ENSG00000140022	30652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.157)	.	deleterious_low_confidence(0.03)	0,1	STON2_HUMAN	STON2	HGNC	G3V322_HUMAN	.	UPI00001FD96B	SNV	STON2,missense_variant,p.Thr300Met,ENST00000267540,;STON2,missense_variant,p.Thr300Met,ENST00000555447,;STON2,upstream_gene_variant,,ENST00000553821,;STON2,downstream_gene_variant,,ENST00000556280,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	1312	122	107	SUCCESS
TJP1	7082	.	GRCh37	15	30012108	30012108	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	108	197	0	ENST00000346128.6:c.2876C>T	p.Pro959Leu	p.P959L	ENST00000346128	NM_175610.2	959	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42007.1	2876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGGGCTCC	NONE	.	.	hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	.	.	ENSP00000281537	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious_low_confidence(0.02)	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,missense_variant,p.Pro959Leu,ENST00000356107,;TJP1,missense_variant,p.Pro959Leu,ENST00000346128,;TJP1,intron_variant,,ENST00000400011,;TJP1,intron_variant,,ENST00000545208,;TJP1,non_coding_transcript_exon_variant,,ENST00000561307,;	3351	197	247	SUCCESS
SLC27A2	11001	.	GRCh37	15	50474581	50474581	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs770927955	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	35	0	ENST00000267842.5:c.-44G>A		p.*15*	ENST00000267842	NM_003645.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10133.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGTGAAC	NONE	.	.	.	.	.	ENSP00000267842	.	1/10	.	.	.	.	.	.	.	.	rs770927955	1/10	PASS	ENST00000267842	Transcript	.	.	ENSG00000140284	10996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S27A2_HUMAN	SLC27A2	HGNC	G3V1R7_HUMAN	.	UPI000013D776	SNV	SLC27A2,5_prime_UTR_variant,,ENST00000380902,;SLC27A2,5_prime_UTR_variant,,ENST00000267842,;ATP8B4,5_prime_UTR_variant,,ENST00000558829,;	189	35	52	SUCCESS
AXIN1	8312	.	GRCh37	16	347071	347072	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	61	0	ENST00000262320.3:c.1939dup	p.Arg647ProfsTer17	p.R647Pfs*17	ENST00000262320	NM_003502.3	647	cgc/cCgc	0	.	.	.	.	.	G	R/PX	protein_coding	YES	CCDS10405.1	1939-1940	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTGCGGTGC	NONE	.	.	.	.	.	ENSP00000262320	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	insertion	AXIN1,frameshift_variant,p.Arg647ProfsTer17,ENST00000262320,;AXIN1,frameshift_variant,p.Arg647ProfsTer17,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	2311-2312	61	69	SUCCESS
BRD7	29117	.	GRCh37	16	50357576	50357576	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	41	139	0	ENST00000394688.3:c.1365T>G	p.Tyr455Ter	p.Y455*	ENST00000394688		455	taT/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS54007.1	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGGATAATC	NONE	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	12/17	.	.	.	.	.	.	.	.	COSM1629913	12/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,stop_gained,p.Tyr455Ter,ENST00000394688,;BRD7,stop_gained,p.Tyr455Ter,ENST00000394689,;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;	1370	139	61	SUCCESS
ITGB3	3690	.	GRCh37	17	45387555	45387555	+	synonymous_variant	Silent	SNP	G	G	C	rs565628822	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	87	169	0	ENST00000559488.1:c.2352G>C	p.Thr784=	p.T784=	ENST00000559488	NM_000212.2	784	acG/acC	0	.	A:0	.	A:0	.	C	T	protein_coding	YES	CCDS11511.1	2352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACGTACCG	NONE	by1000G	.	hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Gene3D:1m8oB00,Pfam_domain:PF08725,PIRSF_domain:PIRSF002512	A:0	.	ENSP00000452786	A:0	15/15	.	.	.	.	.	.	.	.	rs565628822	15/15	PASS	ENST00000559488	Transcript	.	A:0.0002	ENSG00000259207	6156	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	ITB3_HUMAN	ITGB3	HGNC	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN	.	UPI000013D240	SNV	ITGB3,synonymous_variant,p.%3D,ENST00000559488,;ITGB3,intron_variant,,ENST00000435993,;RP11-290H9.4,intron_variant,,ENST00000575039,;RP11-290H9.4,upstream_gene_variant,,ENST00000576345,;ITGB3,intron_variant,,ENST00000560629,;	2368	169	210	SUCCESS
EPN3	55040	.	GRCh37	17	48614425	48614425	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146173668	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	37	0	ENST00000268933.3:c.508C>T	p.Arg170Cys	p.R170C	ENST00000268933	NM_017957.2	170	Cgc/Tgc	0	T:0	T:0.0015	.	T:0	.	T	R/C	protein_coding	YES	CCDS11570.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGCCGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12276:SF16,hmmpanther:PTHR12276	T:0	T:0.0001	ENSP00000268933	T:0.002	2/10	.	.	.	.	.	.	.	.	rs146173668	2/10	PASS	ENST00000268933	Transcript	.	T:0.0008	ENSG00000049283	18235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	T:0	deleterious(0.01)	.	EPN3_HUMAN	EPN3	HGNC	D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN	.	UPI0000073234	SNV	EPN3,missense_variant,p.Arg114Cys,ENST00000541226,;EPN3,missense_variant,p.Arg225Cys,ENST00000537145,;EPN3,missense_variant,p.Arg170Cys,ENST00000268933,;EPN3,downstream_gene_variant,,ENST00000507709,;EPN3,downstream_gene_variant,,ENST00000515126,;EPN3,downstream_gene_variant,,ENST00000507467,;EPN3,downstream_gene_variant,,ENST00000514874,;EPN3,downstream_gene_variant,,ENST00000503246,;EPN3,downstream_gene_variant,,ENST00000503690,;RP11-94C24.8,downstream_gene_variant,,ENST00000513017,;EPN3,downstream_gene_variant,,ENST00000571402,;EPN3,downstream_gene_variant,,ENST00000511414,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000507998,;EPN3,missense_variant,p.Arg170Cys,ENST00000510045,;EPN3,missense_variant,p.Arg170Cys,ENST00000574464,;EPN3,3_prime_UTR_variant,,ENST00000512379,;EPN3,3_prime_UTR_variant,,ENST00000512291,;RP11-94C24.8,downstream_gene_variant,,ENST00000509260,;	1087	37	43	SUCCESS
TOM1L1	10040	.	GRCh37	17	52991114	52991114	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	61	95	0	ENST00000575882.1:c.378G>C	p.Trp126Cys	p.W126C	ENST00000575882	NM_005486.2	126	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS11582.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGGTCACA	NONE	.	.	PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,Pfam_domain:PF00790,Gene3D:1.25.40.90,PIRSF_domain:PIRSF036948,SMART_domains:SM00288,Superfamily_domains:SSF48464	.	.	ENSP00000460823	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000575882	Transcript	.	.	ENSG00000141198	11983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TM1L1_HUMAN	TOM1L1	HGNC	I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN	.	UPI000003E7E0	SNV	TOM1L1,missense_variant,p.Trp73Cys,ENST00000572576,;TOM1L1,missense_variant,p.Trp125Cys,ENST00000570499,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000572298,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000570371,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000575333,;TOM1L1,missense_variant,p.Trp116Cys,ENST00000575909,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000445275,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000540336,;TOM1L1,missense_variant,p.Trp119Cys,ENST00000572158,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000348161,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000536554,;TOM1L1,missense_variant,p.Trp91Cys,ENST00000572405,;TOM1L1,missense_variant,p.Trp91Cys,ENST00000573607,;TOM1L1,missense_variant,p.Trp126Cys,ENST00000575882,;TOM1L1,missense_variant,p.Trp49Cys,ENST00000576932,;TOM1L1,3_prime_UTR_variant,,ENST00000572360,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,3_prime_UTR_variant,,ENST00000570965,;TOM1L1,upstream_gene_variant,,ENST00000570977,;	731	95	129	SUCCESS
PSMC5	5705	.	GRCh37	17	61908431	61908431	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	33	70	0	ENST00000310144.6:c.715C>T	p.Arg239Trp	p.R239W	ENST00000310144	NM_002805.5	239	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11645.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACGGGAA	NONE	.	.	hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF12,TIGRFAM_domain:TIGR01242,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000310572	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000310144	Transcript	.	.	ENSG00000087191	9552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PRS8_HUMAN	PSMC5	HGNC	J3QSA9_HUMAN,J3QLH6_HUMAN,J3KRP2_HUMAN	.	UPI00000219DE	SNV	PSMC5,missense_variant,p.Arg231Trp,ENST00000581882,;PSMC5,missense_variant,p.Arg231Trp,ENST00000375812,;PSMC5,missense_variant,p.Arg231Trp,ENST00000585123,;PSMC5,missense_variant,p.Arg239Trp,ENST00000310144,;PSMC5,missense_variant,p.Arg231Trp,ENST00000580864,;PSMC5,missense_variant,p.Arg231Trp,ENST00000584320,;PSMC5,missense_variant,p.Arg220Trp,ENST00000582130,;SMARCD2,downstream_gene_variant,,ENST00000323347,;SMARCD2,downstream_gene_variant,,ENST00000448276,;PSMC5,downstream_gene_variant,,ENST00000579708,;SMARCD2,downstream_gene_variant,,ENST00000225742,;FTSJ3,upstream_gene_variant,,ENST00000580272,;FTSJ3,upstream_gene_variant,,ENST00000581209,;FTSJ3,upstream_gene_variant,,ENST00000585145,;SMARCD2,downstream_gene_variant,,ENST00000450364,;FTSJ3,upstream_gene_variant,,ENST00000427159,;FTSJ3,upstream_gene_variant,,ENST00000584574,;PSMC5,downstream_gene_variant,,ENST00000581842,;FTSJ3,upstream_gene_variant,,ENST00000580295,;PSMC5,downstream_gene_variant,,ENST00000582420,;PSMC5,missense_variant,p.Thr99Met,ENST00000584880,;PSMC5,3_prime_UTR_variant,,ENST00000584536,;PSMC5,3_prime_UTR_variant,,ENST00000585242,;PSMC5,non_coding_transcript_exon_variant,,ENST00000578570,;PSMC5,non_coding_transcript_exon_variant,,ENST00000579031,;PSMC5,non_coding_transcript_exon_variant,,ENST00000581764,;PSMC5,non_coding_transcript_exon_variant,,ENST00000580063,;PSMC5,non_coding_transcript_exon_variant,,ENST00000579147,;SMARCD2,downstream_gene_variant,,ENST00000584483,;PSMC5,downstream_gene_variant,,ENST00000580265,;FTSJ3,upstream_gene_variant,,ENST00000579569,;FTSJ3,upstream_gene_variant,,ENST00000582476,;SMARCD2,downstream_gene_variant,,ENST00000584400,;FTSJ3,upstream_gene_variant,,ENST00000584193,;PSMC5,downstream_gene_variant,,ENST00000583283,;PSMC5,upstream_gene_variant,,ENST00000584657,;FTSJ3,upstream_gene_variant,,ENST00000577263,;SMARCD2,downstream_gene_variant,,ENST00000578234,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000581832,;FTSJ3,upstream_gene_variant,,ENST00000580290,;	1023	70	110	SUCCESS
MAPK4	5596	.	GRCh37	18	48190630	48190630	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs556250636	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	44	0	ENST00000400384.2:c.302C>T	p.Ala101Val	p.A101V	ENST00000400384	NM_002747.3	101	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42437.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCGTACA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF25,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000383234	.	2/6	.	.	.	.	.	.	.	.	rs556250636	2/6	PASS	ENST00000400384	Transcript	.	.	ENSG00000141639	6878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	MK04_HUMAN	MAPK4	HGNC	Q0VG04_HUMAN,B4E104_HUMAN,B4DEW2_HUMAN	.	UPI0000201D20	SNV	MAPK4,missense_variant,p.Ala101Val,ENST00000588540,;MAPK4,missense_variant,p.Ala101Val,ENST00000592595,;MAPK4,missense_variant,p.Ala101Val,ENST00000400384,;MAPK4,intron_variant,,ENST00000540640,;MAPK4,upstream_gene_variant,,ENST00000587823,;MAPK4,downstream_gene_variant,,ENST00000586735,;	1338	44	32	SUCCESS
LCE1B	353132	.	GRCh37	1	152785040	152785040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	592	164	294	0	ENST00000360090.3:c.118G>T	p.Val40Phe	p.V40F	ENST00000360090	NM_178349.1	40	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1027.1	118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGTCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Pfam_domain:PF14672	.	.	ENSP00000353203	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360090	Transcript	.	.	ENSG00000196734	16611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.09)	.	LCE1B_HUMAN	LCE1B	HGNC	.	.	UPI000014099C	SNV	LCE1B,missense_variant,p.Val40Phe,ENST00000360090,;	594	294	756	SUCCESS
OR2M3	127062	.	GRCh37	1	248366773	248366773	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	638	174	409	1	ENST00000456743.1:c.404T>C	p.Leu135Pro	p.L135P	ENST00000456743	NM_001004689.1	135	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31107.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTCATGA	BUFFER|p.T133A|c.397A>G|7	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000389625	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000456743	Transcript	.	.	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.Leu135Pro,ENST00000456743,;	442	410	813	SUCCESS
ARID1A	8289	.	GRCh37	1	27105550	27105550	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	107	266	0	ENST00000324856.7:c.5161C>T	p.Arg1721Ter	p.R1721*	ENST00000324856	NM_006015.4	1721	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS285.1	5161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCCGACGA	SITE|p.R1721*|c.5161C>T|9,BUFFER|p.R1722*|c.5164C>T|9	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	COSM51441	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,stop_gained,p.Arg1504Ter,ENST00000457599,;ARID1A,stop_gained,p.Arg1338Ter,ENST00000374152,;ARID1A,stop_gained,p.Arg618Ter,ENST00000430799,;ARID1A,stop_gained,p.Arg49Ter,ENST00000540690,;ARID1A,stop_gained,p.Arg1721Ter,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	5532	266	213	SUCCESS
ARID1A	8289	.	GRCh37	1	27106893	27106894	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	60	0	ENST00000324856.7:c.6504_6505insT	p.Val2169CysfsTer56	p.V2169Cfs*56	ENST00000324856	NM_006015.4	2168	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS285.1	6504-6505	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGTGGTACT	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	insertion	ARID1A,frameshift_variant,p.Val1952CysfsTer56,ENST00000457599,;ARID1A,frameshift_variant,p.Val1786CysfsTer56,ENST00000374152,;ARID1A,frameshift_variant,p.Val1066CysfsTer56,ENST00000430799,;ARID1A,frameshift_variant,p.Val497CysfsTer56,ENST00000540690,;ARID1A,frameshift_variant,p.Val2169CysfsTer56,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6875-6876	60	64	SUCCESS
ADAM33	80332	.	GRCh37	20	3655233	3655233	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	28	0	ENST00000356518.2:c.518T>C	p.Leu173Pro	p.L173P	ENST00000356518	NM_025220.2	173	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS13058.1	518	RADIA|VARSCANS	.	AGGTGAGCAGC	NONE	.	.	hmmpanther:PTHR11905:SF38,hmmpanther:PTHR11905	.	.	ENSP00000348912	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000356518	Transcript	1	.	ENSG00000149451	15478	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.33)	.	ADA33_HUMAN	ADAM33	HGNC	Q8N6B9_HUMAN	.	UPI0000048F2A	SNV	ADAM33,missense_variant,p.Leu173Pro,ENST00000356518,;ADAM33,missense_variant,p.Leu173Pro,ENST00000379861,;ADAM33,missense_variant,p.Leu173Pro,ENST00000350009,;ADAM33,upstream_gene_variant,,ENST00000483362,;ADAM33,upstream_gene_variant,,ENST00000466620,;	760	28	42	SUCCESS
OCSTAMP	128506	.	GRCh37	20	45174216	45174216	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs76943342	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	60	0	ENST00000279028.2:c.797G>A	p.Arg266Gln	p.R266Q	ENST00000279028	NM_080721.2	266	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS54468.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCGCTGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21041:SF3,hmmpanther:PTHR21041,Pfam_domain:PF07782	T:0.0069	.	ENSP00000279028	T:0	2/3	.	.	.	.	.	.	.	.	rs76943342	2/3	PASS	ENST00000279028	Transcript	.	T:0.0016	ENSG00000149635	16116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0.001	tolerated(0.55)	.	OCSTP_HUMAN	OCSTAMP	HGNC	.	.	UPI00006C1A90	SNV	OCSTAMP,missense_variant,p.Arg266Gln,ENST00000279028,;	811	60	78	SUCCESS
IL18RAP	8807	.	GRCh37	2	103068506	103068506	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764892857	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	57	127	0	ENST00000264260.2:c.1665G>T	p.Met555Ile	p.M555I	ENST00000264260	NM_003853.2	555	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS2061.1	1665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGCGCTA	NONE	byFrequency	.	Prints_domain:PR01537,Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4,PROSITE_profiles:PS50104	.	.	ENSP00000264260	.	12/12	.	.	.	.	.	.	.	.	rs764892857	12/12	PASS	ENST00000264260	Transcript	.	.	ENSG00000115607	5989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.42)	.	I18RA_HUMAN	IL18RAP	HGNC	Q3KPE8_HUMAN,C9JLE2_HUMAN	.	UPI0000071CAF	SNV	IL18RAP,missense_variant,p.Met413Ile,ENST00000409369,;IL18RAP,missense_variant,p.Met555Ile,ENST00000264260,;	2254	127	137	SUCCESS
PLA2R1	22925	.	GRCh37	2	160833216	160833216	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	106	204	0	ENST00000283243.7:c.2417T>C	p.Ile806Thr	p.I806T	ENST00000283243	NM_001195641.1	806	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS33309.1	2417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGAATCTTG	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803	.	.	ENSP00000283243	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.35)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Ile806Thr,ENST00000283243,;PLA2R1,missense_variant,p.Ile806Thr,ENST00000392771,;	2624	204	225	SUCCESS
TNS1	7145	.	GRCh37	2	218696257	218696257	+	synonymous_variant	Silent	SNP	C	C	T	rs545831386	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	28	0	ENST00000171887.4:c.2919G>A	p.Pro973=	p.P973=	ENST00000171887	NM_022648.4	973	ccG/ccA	0	.	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS2407.1	2919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGGGGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	T:0.001	.	ENSP00000171887	T:0	20/33	.	.	.	.	.	.	.	.	rs545831386	20/33	PASS	ENST00000171887	Transcript	.	T:0.0002	ENSG00000079308	11973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TENS1_HUMAN	TNS1	HGNC	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN	.	UPI0000456EEB	SNV	TNS1,synonymous_variant,p.%3D,ENST00000171887,;TNS1,synonymous_variant,p.%3D,ENST00000430930,;TNS1,synonymous_variant,p.%3D,ENST00000419504,;TNS1,synonymous_variant,p.%3D,ENST00000446688,;	3372	28	33	SUCCESS
SPATA3	130560	.	GRCh37	2	231865207	231865207	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	98	0	ENST00000424440.1:c.428A>T	p.Gln143Leu	p.Q143L	ENST00000424440		143	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS2481.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGATGG	NONE	.	.	hmmpanther:PTHR22234	.	.	ENSP00000388895	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000452881	Transcript	.	.	ENSG00000173699	17884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.23)	.	SPTA3_HUMAN	SPATA3	HGNC	.	.	UPI000006E910	SNV	SPATA3,missense_variant,p.Gln143Leu,ENST00000455816,;SPATA3,missense_variant,p.Gln143Leu,ENST00000424440,;SPATA3,missense_variant,p.Gln143Leu,ENST00000452881,;SPATA3,missense_variant,p.Gln143Leu,ENST00000433428,;SPATA3,intron_variant,,ENST00000423134,;SPATA3,intron_variant,,ENST00000440792,;SPATA3,upstream_gene_variant,,ENST00000495639,;SPATA3-AS1,upstream_gene_variant,,ENST00000434094,;SPATA3-AS1,upstream_gene_variant,,ENST00000414876,;SPATA3-AS1,upstream_gene_variant,,ENST00000446741,;SPATA3-AS1,upstream_gene_variant,,ENST00000418330,;SPATA3-AS1,upstream_gene_variant,,ENST00000426904,;SPATA3-AS1,upstream_gene_variant,,ENST00000457803,;SPATA3-AS1,upstream_gene_variant,,ENST00000441063,;SPATA3,intron_variant,,ENST00000409956,;SPATA3,3_prime_UTR_variant,,ENST00000454918,;	536	98	116	SUCCESS
IQCA1	79781	.	GRCh37	2	237300683	237300683	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	309	147	260	0	ENST00000409907.3:c.1349del	p.Asn450ThrfsTer2	p.N450Tfs*2	ENST00000409907	NM_024726.4	450	aAc/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS46549.1	1349	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTAAGTTTTTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2	.	.	ENSP00000387347	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000409907	Transcript	.	.	ENSG00000132321	26195	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IQCA1_HUMAN	IQCA1	HGNC	Q53SG8_HUMAN	.	UPI000000DA5B	deletion	IQCA1,frameshift_variant,p.Asn446ThrfsTer2,ENST00000309507,;IQCA1,frameshift_variant,p.Asn450ThrfsTer2,ENST00000409907,;IQCA1,frameshift_variant,p.Asn469ThrfsTer2,ENST00000418802,;IQCA1,frameshift_variant,p.Asn409ThrfsTer2,ENST00000431676,;AC019068.2,intron_variant,,ENST00000413353,;IQCA1,non_coding_transcript_exon_variant,,ENST00000467572,;IQCA1,downstream_gene_variant,,ENST00000465621,;IQCA1,frameshift_variant,p.Asn450ThrfsTer2,ENST00000254653,;	1624	260	456	SUCCESS
RAMP1	10267	.	GRCh37	2	238768338	238768338	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	9	0	ENST00000254661.4:c.20G>T	p.Arg7Leu	p.R7L	ENST00000254661	NM_005855.2	7	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS2522.1	20	RADIA|VARSCANS	.	GTGCCGCCTCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257,hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF3	.	.	ENSP00000254661	.	1/3	.	.	.	.	.	.	.	.	.	1/3	oxog	ENST00000254661	Transcript	.	.	ENSG00000132329	9843	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.73)	.	RAMP1_HUMAN	RAMP1	HGNC	Q53T50_HUMAN,Q53SN3_HUMAN,E9PC20_HUMAN	.	UPI00001342FF	SNV	RAMP1,missense_variant,p.Arg7Leu,ENST00000254661,;RAMP1,5_prime_UTR_variant,,ENST00000409726,;RAMP1,intron_variant,,ENST00000404910,;RAMP1,upstream_gene_variant,,ENST00000403885,;	152	9	45	SUCCESS
SPTBN1	6711	.	GRCh37	2	54858605	54858605	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1371716918	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	54	0	ENST00000356805.4:c.3421C>T	p.Arg1141Trp	p.R1141W	ENST00000356805	NM_003128.2	1141	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33198.1	3421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGCGGCAG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Arg1128Trp,ENST00000333896,;SPTBN1,missense_variant,p.Arg1141Trp,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000389980,;	3702	54	75	SUCCESS
SI	6476	.	GRCh37	3	164750329	164750329	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	104	0	ENST00000264382.3:c.2717C>T	p.Thr906Ile	p.T906I	ENST00000264382	NM_001041.3	906	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS3196.1	2717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAGTGAAA	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	24/48	.	.	.	.	.	.	.	.	.	24/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.06)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Thr906Ile,ENST00000264382,;	2780	104	87	SUCCESS
IRF2	3660	.	GRCh37	4	185320192	185320192	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	75	80	0	ENST00000393593.3:c.571G>T	p.Glu191Ter	p.E191*	ENST00000393593	NM_002199.3	191	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3835.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCTTGAT	NONE	.	.	PIRSF_domain:PIRSF038196,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22	.	.	ENSP00000377218	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000393593	Transcript	.	.	ENSG00000168310	6117	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRF2_HUMAN	IRF2	HGNC	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN	.	UPI000012D888	SNV	IRF2,stop_gained,p.Glu48Ter,ENST00000502750,;IRF2,stop_gained,p.Glu125Ter,ENST00000505067,;IRF2,stop_gained,p.Glu191Ter,ENST00000393593,;	779	80	91	SUCCESS
FBN2	2201	.	GRCh37	5	127681089	127681089	+	synonymous_variant	Silent	SNP	A	A	T	rs755961856	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	64	0	ENST00000262464.4:c.3177T>A	p.Ala1059=	p.A1059=	ENST00000262464	NM_001999.3	1059	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34222.1	3177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTTAGCAAA	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19	.	.	ENSP00000424571	.	30/71	.	.	.	.	.	.	.	.	rs755961856	30/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;FBN2,synonymous_variant,p.%3D,ENST00000508989,;	4152	64	81	SUCCESS
RBM27	54439	.	GRCh37	5	145641135	145641135	+	synonymous_variant	Silent	SNP	G	G	A	rs1235193211	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	67	182	0	ENST00000265271.5:c.1956G>A	p.Arg652=	p.R652=	ENST00000265271	NM_018989.1	652	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS43378.1	1956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGAAAGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398,Gene3D:3.30.70.330,Pfam_domain:PF13893,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000265271	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,synonymous_variant,p.%3D,ENST00000265271,;RBM27,synonymous_variant,p.%3D,ENST00000506502,;RBM27,non_coding_transcript_exon_variant,,ENST00000508019,;	2122	182	202	SUCCESS
VCAN	1462	.	GRCh37	5	82833574	82833574	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	131	0	ENST00000265077.3:c.4752C>T	p.Pro1584=	p.P1584=	ENST00000265077	NM_004385.4	1584	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4060.1	4752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCACTAT	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,synonymous_variant,p.%3D,ENST00000265077,;VCAN,synonymous_variant,p.%3D,ENST00000343200,;VCAN,synonymous_variant,p.%3D,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	5317	131	110	SUCCESS
HIVEP1	3096	.	GRCh37	6	12125147	12125148	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	219	47	120	0	ENST00000379388.2:c.5123dup	p.Asn1708LysfsTer38	p.N1708Kfs*38	ENST00000379388	NM_002114.2	1707	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS43426.1	5119-5120	INDELOCATOR*|VARSCANI*|PINDEL	.	TATGTGAAAAT	NONE	.	.	hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	insertion	HIVEP1,frameshift_variant,p.Asn1708LysfsTer38,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	5451-5452	120	266	SUCCESS
TPD52L1	7164	.	GRCh37	6	125584076	125584076	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs559154046	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	25	0	ENST00000534000.1:c.583C>T	p.Arg195Trp	p.R195W	ENST00000534000	NM_003287.2	195	Cgg/Tgg	0	.	T:0.0008	.	T:0	.	T	R/W	protein_coding	YES	CCDS5130.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCGGCGG	NONE	by1000G	.	hmmpanther:PTHR19307:SF8,hmmpanther:PTHR19307	T:0	.	ENSP00000434142	T:0	7/7	.	.	.	.	.	.	.	.	rs559154046	7/7	PASS	ENST00000534000	Transcript	.	T:0.0002	ENSG00000111907	12006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	T:0	deleterious_low_confidence(0.02)	.	TPD53_HUMAN	TPD52L1	HGNC	F6V707_HUMAN,E9PNQ9_HUMAN	.	UPI0000136B40	SNV	TPD52L1,missense_variant,p.Arg182Trp,ENST00000527711,;TPD52L1,missense_variant,p.Arg195Trp,ENST00000534000,;TPD52L1,missense_variant,p.Arg166Trp,ENST00000532429,;TPD52L1,missense_variant,p.Arg200Trp,ENST00000304877,;TPD52L1,3_prime_UTR_variant,,ENST00000392482,;TPD52L1,3_prime_UTR_variant,,ENST00000528193,;TPD52L1,3_prime_UTR_variant,,ENST00000534199,;TPD52L1,3_prime_UTR_variant,,ENST00000368402,;TPD52L1,3_prime_UTR_variant,,ENST00000524679,;TPD52L1,3_prime_UTR_variant,,ENST00000368388,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000576089,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000530868,;HDDC2,intron_variant,,ENST00000608456,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000571678,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000532423,;HDDC2,intron_variant,,ENST00000609477,;	879	25	18	SUCCESS
ARHGAP18	93663	.	GRCh37	6	129927037	129927037	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	58	106	0	ENST00000368149.2:c.1350C>T	p.Asn450=	p.N450=	ENST00000368149	NM_033515.2	450	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS34535.1	1350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGTTTGC	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14963:SF6,hmmpanther:PTHR14963,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000357131	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000368149	Transcript	.	.	ENSG00000146376	21035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG18_HUMAN	ARHGAP18	HGNC	.	.	UPI000020E208	SNV	ARHGAP18,synonymous_variant,p.%3D,ENST00000368149,;	1439	106	78	SUCCESS
COL12A1	1303	.	GRCh37	6	75893307	75893307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	54	162	0	ENST00000322507.8:c.1350C>A	p.Ser450Arg	p.S450R	ENST00000322507	NM_004370.5	450	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS43482.1	1350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGCTATA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000325146	.	10/66	.	.	.	.	.	.	.	.	.	10/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Ser450Arg,ENST00000416123,;COL12A1,missense_variant,p.Ser450Arg,ENST00000322507,;COL12A1,missense_variant,p.Ser450Arg,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;	1660	162	86	SUCCESS
SLC26A4	5172	.	GRCh37	7	107315471	107315471	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	19	186	1	ENST00000265715.3:c.682G>T	p.Ala228Ser	p.A228S	ENST00000265715	NM_000441.1	228	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS5746.1	682	MUTECT|MUSE|VARSCANS	.	CTGCTGCCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF33,hmmpanther:PTHR11814,Pfam_domain:PF00916,TIGRFAM_domain:TIGR00815	.	.	ENSP00000265715	.	6/21	.	.	.	.	.	.	.	.	CD073698	6/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(1)	.	deleterious(0.01)	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,missense_variant,p.Ala228Ser,ENST00000265715,;SLC26A4,downstream_gene_variant,,ENST00000440056,;	906	187	247	SUCCESS
INHBA	3624	.	GRCh37	7	41729607	41729607	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	37	26	0	ENST00000242208.4:c.922C>T	p.Arg308Cys	p.R308C	ENST00000242208	NM_002192.2	308	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5464.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACGCCGGC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF133	.	.	ENSP00000242208	.	3/3	.	.	.	.	.	.	.	.	COSM1450701	3/3	PASS	ENST00000242208	Transcript	.	.	ENSG00000122641	6066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.953)	.	deleterious(0)	1	INHBA_HUMAN	INHBA	HGNC	A4D1W7_HUMAN	.	UPI000012D421	SNV	INHBA,missense_variant,p.Arg308Cys,ENST00000442711,;INHBA,missense_variant,p.Arg308Cys,ENST00000242208,;AC005027.3,intron_variant,,ENST00000416150,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;	1169	26	64	SUCCESS
ZNF107	51427	.	GRCh37	7	64167564	64167564	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	36	61	0	ENST00000344930.3:c.882T>C	p.His294=	p.H294=	ENST00000344930	NM_001013746.1	294	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS5527.1	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATACTGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,PROSITE_profiles:PS50157	.	.	ENSP00000378789	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395391	Transcript	.	.	ENSG00000196247	12887	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN107_HUMAN	ZNF107	HGNC	Q9H3U2_HUMAN,C9JSF9_HUMAN	.	UPI000000DBC2	SNV	ZNF107,synonymous_variant,p.%3D,ENST00000344930,;ZNF107,synonymous_variant,p.%3D,ENST00000395391,;ZNF107,synonymous_variant,p.%3D,ENST00000423627,;ZNF107,downstream_gene_variant,,ENST00000360117,;	2257	61	72	SUCCESS
DCSTAMP	81501	.	GRCh37	8	105361088	105361088	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1255198244	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	80	226	0	ENST00000297581.2:c.308C>A	p.Thr103Lys	p.T103K	ENST00000297581	NM_030788.3	103	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS6301.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACAGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	.	.	ENSP00000297581	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297581	Transcript	.	.	ENSG00000164935	18549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	DCSTP_HUMAN	DCSTAMP	HGNC	.	.	UPI000003BCB5	SNV	DCSTAMP,missense_variant,p.Thr103Lys,ENST00000297581,;DCSTAMP,missense_variant,p.Thr103Lys,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	357	226	199	SUCCESS
TRPM6	140803	.	GRCh37	9	77339554	77339554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	88	204	0	ENST00000360774.1:c.6044C>A	p.Ser2015Tyr	p.S2015Y	ENST00000360774	NM_017662.4	2015	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6647.1	6044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAATTT	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious_low_confidence(0.01)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Ser2019Tyr,ENST00000451710,;TRPM6,missense_variant,p.Ser2010Tyr,ENST00000449912,;TRPM6,missense_variant,p.Ser852Tyr,ENST00000376871,;TRPM6,missense_variant,p.Ser2010Tyr,ENST00000361255,;TRPM6,missense_variant,p.Ser970Tyr,ENST00000376872,;TRPM6,missense_variant,p.Ser2015Tyr,ENST00000360774,;	6282	204	237	SUCCESS
VPS13A	23230	.	GRCh37	9	79867172	79867172	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746836759	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	59	124	0	ENST00000360280.3:c.2192G>A	p.Arg731Gln	p.R731Q	ENST00000360280	NM_033305.2	731	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6655.1	2192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACGAAAAC	NONE	byFrequency	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	22/72	.	.	.	.	.	.	.	.	rs746836759,COSM1463059,COSM1463060,COSM1463061	22/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1,1,1	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,missense_variant,p.Arg731Gln,ENST00000357409,;VPS13A,missense_variant,p.Arg731Gln,ENST00000376634,;VPS13A,missense_variant,p.Arg731Gln,ENST00000376636,;VPS13A,missense_variant,p.Arg731Gln,ENST00000360280,;	2452	124	128	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20252926	20252926	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	183	183	0	ENST00000379565.3:c.76C>T	p.Gln26Ter	p.Q26*	ENST00000379565	NM_004586.2	26	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14197.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTGTCCAT	NONE	.	.	hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,PIRSF_domain:PIRSF000606	.	.	ENSP00000368884	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,stop_gained,p.Gln26Ter,ENST00000379565,;RPS6KA3,5_prime_UTR_variant,,ENST00000438357,;RPS6KA3,5_prime_UTR_variant,,ENST00000540702,;RPS6KA3,5_prime_UTR_variant,,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;	284	183	218	SUCCESS
DCLRE1C	64421	.	GRCh37	10	14976379	14976379	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	66	147	0	ENST00000378278.2:c.678G>A		p.X226_splice	ENST00000378278		226	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS31149.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTGGAC	NONE	.	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF8,Gene3D:3.60.15.10,Superfamily_domains:SSF56281	.	.	ENSP00000367527	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000378278	Transcript	1	.	ENSG00000152457	17642	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCR1C_HUMAN	DCLRE1C	HGNC	B3KSJ7_HUMAN	.	UPI000013EEDC	SNV	DCLRE1C,synonymous_variant,p.%3D,ENST00000396817,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378278,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378258,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378254,;DCLRE1C,synonymous_variant,p.%3D,ENST00000418843,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378246,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378255,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378249,;DCLRE1C,synonymous_variant,p.%3D,ENST00000357717,;DCLRE1C,synonymous_variant,p.%3D,ENST00000453695,;DCLRE1C,synonymous_variant,p.%3D,ENST00000378289,;DCLRE1C,downstream_gene_variant,,ENST00000378241,;DCLRE1C,downstream_gene_variant,,ENST00000456122,;	716	147	211	SUCCESS
ZNF365	22891	.	GRCh37	10	64148204	64148204	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763110946	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	17	109	0	ENST00000395254.3:c.793G>T	p.Val265Phe	p.V265F	ENST00000395254	NM_014951.2	265	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS7264.1	793	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGTTCAA	NONE	byFrequency	.	hmmpanther:PTHR15739	.	.	ENSP00000387091	.	3/8	.	.	.	.	.	.	.	.	rs763110946	3/8	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	tolerated(0.23)	.	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,missense_variant,p.Val265Phe,ENST00000395254,;ZNF365,missense_variant,p.Val265Phe,ENST00000410046,;ZNF365,missense_variant,p.Val265Phe,ENST00000395255,;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,;	1073	109	138	SUCCESS
OR5B12	390191	.	GRCh37	11	58207461	58207461	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	42	99	0	ENST00000302572.2:c.164C>A	p.Thr55Asn	p.T55N	ENST00000302572	NM_001004733.2	55	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS31551.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGTGTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000306657	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302572	Transcript	.	.	ENSG00000172362	15432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	deleterious_low_confidence(0.02)	.	OR5BC_HUMAN	OR5B12	HGNC	.	.	UPI00000015B2	SNV	OR5B12,missense_variant,p.Thr55Asn,ENST00000302572,;	186	99	163	SUCCESS
ZP1	22917	.	GRCh37	11	60641219	60641219	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	30	0	ENST00000278853.5:c.1543T>G	p.Ser515Ala	p.S515A	ENST00000278853	NM_207341.2	515	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS31572.1	1543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTCAGGC	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343:SF41,hmmpanther:PTHR23343,PROSITE_profiles:PS51034	.	.	ENSP00000278853	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000278853	Transcript	.	.	ENSG00000149506	13187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	tolerated(0.11)	.	ZP1_HUMAN	ZP1	HGNC	.	.	UPI0000351AA0	SNV	ZP1,missense_variant,p.Ser515Ala,ENST00000278853,;ZP1,non_coding_transcript_exon_variant,,ENST00000543020,;ZP1,non_coding_transcript_exon_variant,,ENST00000537203,;ZP1,downstream_gene_variant,,ENST00000542971,;ZP1,downstream_gene_variant,,ENST00000540908,;	1543	30	44	SUCCESS
ASRGL1	80150	.	GRCh37	11	62159568	62159568	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	26	82	0	ENST00000301776.5:c.739G>A	p.Ala247Thr	p.A247T	ENST00000301776	NM_025080.3	247	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8019.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGCTGCG	NONE	.	.	hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF18,Pfam_domain:PF01112,Superfamily_domains:SSF56235	.	.	ENSP00000400057	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000415229	Transcript	.	.	ENSG00000162174	16448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ASGL1_HUMAN	ASRGL1	HGNC	Q9BRH2_HUMAN	.	UPI000004BF00	SNV	ASRGL1,missense_variant,p.Ala247Thr,ENST00000415229,;ASRGL1,missense_variant,p.Ala247Thr,ENST00000301776,;ASRGL1,downstream_gene_variant,,ENST00000535727,;CTD-2531D15.5,intron_variant,,ENST00000526045,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000533970,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000525708,;ASRGL1,downstream_gene_variant,,ENST00000534183,;ASRGL1,downstream_gene_variant,,ENST00000529226,;	954	82	128	SUCCESS
DCHS1	8642	.	GRCh37	11	6662505	6662505	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200060711	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	38	0	ENST00000299441.3:c.340C>T	p.Arg114Cys	p.R114C	ENST00000299441	NM_003737.2	114	Cgc/Tgc	0	A:0	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS7771.1	340	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGGTCCC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	A:0.001	A:0.0001	ENSP00000299441	A:0	2/21	.	.	.	.	.	.	.	.	rs200060711	2/21	common_in_exac	ENST00000299441	Transcript	.	A:0.0002	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.556)	A:0	deleterious(0.01)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Arg114Cys,ENST00000299441,;	752	38	39	SUCCESS
SBNO1	55206	.	GRCh37	12	123825580	123825580	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	58	130	0	ENST00000420886.2:c.606A>C	p.Arg202Ser	p.R202S	ENST00000420886	NM_001167856.1	202	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS53844.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATTCTAGC	NONE	.	.	hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8	.	.	ENSP00000387361	.	4/31	.	.	.	.	.	.	.	.	.	4/31	PASS	ENST00000420886	Transcript	.	.	ENSG00000139697	22973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.655)	.	deleterious_low_confidence(0.01)	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,missense_variant,p.Arg202Ser,ENST00000602398,;SBNO1,missense_variant,p.Arg201Ser,ENST00000602750,;SBNO1,missense_variant,p.Arg202Ser,ENST00000420886,;SBNO1,missense_variant,p.Arg201Ser,ENST00000267176,;	606	130	216	SUCCESS
KCNJ8	3764	.	GRCh37	12	21926286	21926286	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	11	68	0	ENST00000240662.2:c.265A>G	p.Ile89Val	p.I89V	ENST00000240662	NM_004982.3	89	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8692.1	265	RADIA|MUTECT|MUSE|VARSCANS	.	CATGATAGCGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF11,Gene3D:1.10.287.70,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320	.	.	ENSP00000240662	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000240662	Transcript	.	.	ENSG00000121361	6269	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.45)	.	IRK8_HUMAN	KCNJ8	HGNC	F5GY12_HUMAN	.	UPI000012D8A3	SNV	KCNJ8,missense_variant,p.Ile89Val,ENST00000537950,;KCNJ8,missense_variant,p.Ile89Val,ENST00000240662,;	611	68	111	SUCCESS
TMEM106C	79022	.	GRCh37	12	48359720	48359720	+	synonymous_variant	Silent	SNP	C	C	T	rs370706223	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	624	42	412	0	ENST00000429772.2:c.351C>T	p.Gly117=	p.G117=	ENST00000429772	NM_001143842.1	117	ggC/ggT	0	A:0	.	.	.	.	T	G	protein_coding	YES	CCDS8758.1	351	MUTECT|MUSE	.	GACGGCATCAA	NONE	byCluster	.	Pfam_domain:PF07092	.	A:0.0001	ENSP00000400471	.	4/8	.	.	.	.	.	.	.	.	rs370706223	4/8	PASS	ENST00000429772	Transcript	.	.	ENSG00000134291	28775	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T106C_HUMAN	TMEM106C	HGNC	F8VZW0_HUMAN,F8VVN7_HUMAN	.	UPI000006D603	SNV	TMEM106C,synonymous_variant,p.%3D,ENST00000548640,;TMEM106C,synonymous_variant,p.%3D,ENST00000449758,;TMEM106C,synonymous_variant,p.%3D,ENST00000552546,;TMEM106C,synonymous_variant,p.%3D,ENST00000547682,;TMEM106C,synonymous_variant,p.%3D,ENST00000552561,;TMEM106C,synonymous_variant,p.%3D,ENST00000256686,;TMEM106C,synonymous_variant,p.%3D,ENST00000550552,;TMEM106C,synonymous_variant,p.%3D,ENST00000429772,;TMEM106C,5_prime_UTR_variant,,ENST00000546749,;TMEM106C,intron_variant,,ENST00000548965,;TMEM106C,intron_variant,,ENST00000549288,;TMEM106C,non_coding_transcript_exon_variant,,ENST00000551305,;TMEM106C,non_coding_transcript_exon_variant,,ENST00000547136,;TMEM106C,non_coding_transcript_exon_variant,,ENST00000550161,;TMEM106C,intron_variant,,ENST00000550146,;TMEM106C,intron_variant,,ENST00000548355,;TMEM106C,intron_variant,,ENST00000553217,;TMEM106C,downstream_gene_variant,,ENST00000552187,;TMEM106C,downstream_gene_variant,,ENST00000551705,;TMEM106C,downstream_gene_variant,,ENST00000548153,;TMEM106C,upstream_gene_variant,,ENST00000549287,;	464	412	667	SUCCESS
NPFF	8620	.	GRCh37	12	53900573	53900573	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	48	0	ENST00000267017.3:c.329T>C	p.Phe110Ser	p.F110S	ENST00000267017	NM_003717.2	110	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS8862.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAAAGCGT	NONE	.	.	hmmpanther:PTHR15044,hmmpanther:PTHR15044:SF0,Pfam_domain:PF15085,PIRSF_domain:PIRSF038092,Prints_domain:PR01682	.	.	ENSP00000267017	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000267017	Transcript	.	.	ENSG00000139574	7901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NPFF_HUMAN	NPFF	HGNC	.	.	UPI00001303DD	SNV	NPFF,missense_variant,p.Phe113Ser,ENST00000609999,;NPFF,missense_variant,p.Phe110Ser,ENST00000267017,;RP11-793H13.10,3_prime_UTR_variant,,ENST00000591834,;TARBP2,downstream_gene_variant,,ENST00000552817,;TARBP2,downstream_gene_variant,,ENST00000394357,;ATF7,downstream_gene_variant,,ENST00000548446,;TARBP2,downstream_gene_variant,,ENST00000456234,;TARBP2,downstream_gene_variant,,ENST00000552857,;TARBP2,downstream_gene_variant,,ENST00000550407,;TARBP2,downstream_gene_variant,,ENST00000266987,;TARBP2,downstream_gene_variant,,ENST00000549028,;RP11-793H13.10,non_coding_transcript_exon_variant,,ENST00000448979,;TARBP2,downstream_gene_variant,,ENST00000549572,;TARBP2,downstream_gene_variant,,ENST00000550147,;TARBP2,downstream_gene_variant,,ENST00000547064,;TARBP2,downstream_gene_variant,,ENST00000551157,;TARBP2,downstream_gene_variant,,ENST00000547541,;TARBP2,downstream_gene_variant,,ENST00000552650,;TARBP2,downstream_gene_variant,,ENST00000549679,;TARBP2,downstream_gene_variant,,ENST00000547388,;TARBP2,downstream_gene_variant,,ENST00000546889,;TARBP2,downstream_gene_variant,,ENST00000549610,;TARBP2,downstream_gene_variant,,ENST00000546763,;TARBP2,downstream_gene_variant,,ENST00000548971,;TARBP2,downstream_gene_variant,,ENST00000551741,;	493	48	61	SUCCESS
RBP5	83758	.	GRCh37	12	7281340	7281340	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	49	163	0	ENST00000266560.3:c.32T>A	p.Phe11Tyr	p.F11Y	ENST00000266560	NM_031491.2	11	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS8574.1	32	RADIA|MUTECT|MUSE|VARSCANS	.	AGACAAAGCGG	NONE	.	.	hmmpanther:PTHR11955:SF74,hmmpanther:PTHR11955,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178	.	.	ENSP00000266560	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000266560	Transcript	.	.	ENSG00000139194	15847	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.092)	.	deleterious(0.03)	.	RET5_HUMAN	RBP5	HGNC	.	.	UPI000013D6F8	SNV	RBP5,missense_variant,p.Phe11Tyr,ENST00000266560,;RBP5,missense_variant,p.Phe11Tyr,ENST00000542370,;CLSTN3,upstream_gene_variant,,ENST00000537408,;CLSTN3,upstream_gene_variant,,ENST00000539982,;CLSTN3,upstream_gene_variant,,ENST00000266546,;CLSTN3,upstream_gene_variant,,ENST00000535452,;CLSTN3,upstream_gene_variant,,ENST00000545663,;CLSTN3,upstream_gene_variant,,ENST00000541953,;CLSTN3,upstream_gene_variant,,ENST00000534830,;RP11-273B20.1,downstream_gene_variant,,ENST00000544657,;RP11-273B20.1,downstream_gene_variant,,ENST00000538062,;CLSTN3,upstream_gene_variant,,ENST00000541667,;RBP5,missense_variant,p.Phe11Tyr,ENST00000543045,;RBP5,upstream_gene_variant,,ENST00000542784,;CLSTN3,upstream_gene_variant,,ENST00000538933,;	199	163	219	SUCCESS
AK7	122481	.	GRCh37	14	96875279	96875279	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs377123131	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	69	0	ENST00000267584.4:c.498+1G>A		p.X166_splice	ENST00000267584	NM_152327.3	166		0	A:0	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS9945.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGTAAGT	NONE	byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000267584	A:0.001	.	.	.	.	.	.	.	.	.	rs377123131	.	PASS	ENST00000267584	Transcript	.	A:0.0002	ENSG00000140057	20091	.	.	HIGH	4/17	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	KAD7_HUMAN	AK7	HGNC	.	.	UPI00001FDB1D	SNV	AK7,splice_donor_variant,,ENST00000267584,;AK7,splice_donor_variant,,ENST00000554313,;AK7,downstream_gene_variant,,ENST00000556643,;	.	69	55	SUCCESS
TRPM7	54822	.	GRCh37	15	50897161	50897161	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	17	105	0	ENST00000313478.7:c.2890A>C	p.Ile964Leu	p.I964L	ENST00000313478	NM_017672.4	964	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS42035.1	2890	RADIA|MUSE|VARSCANS	.	GTAAATTAATC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF00520,hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	21/39	.	.	.	.	.	.	.	.	.	21/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.423)	.	tolerated(0.18)	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,missense_variant,p.Ile964Leu,ENST00000560955,;TRPM7,missense_variant,p.Ile501Leu,ENST00000560638,;TRPM7,missense_variant,p.Ile964Leu,ENST00000313478,;	3172	105	130	SUCCESS
GTF3C1	2975	.	GRCh37	16	27487845	27487845	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	28	0	ENST00000356183.4:c.4280T>C	p.Leu1427Pro	p.L1427P	ENST00000356183	NM_001520.3	1427	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS32414.1	4280	RADIA|VARSCANS	.	GCACCAGAAAG	NONE	.	.	hmmpanther:PTHR15180	.	.	ENSP00000348510	.	29/37	.	.	.	.	.	.	.	.	.	29/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,missense_variant,p.Leu1427Pro,ENST00000356183,;GTF3C1,missense_variant,p.Leu1427Pro,ENST00000561623,;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,downstream_gene_variant,,ENST00000568569,;GTF3C1,missense_variant,p.Leu2Pro,ENST00000571886,;GTF3C1,3_prime_UTR_variant,,ENST00000564664,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000569394,;GTF3C1,downstream_gene_variant,,ENST00000566779,;	4296	28	30	SUCCESS
CHTF18	63922	.	GRCh37	16	847042	847042	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	44	0	ENST00000262315.9:c.2683C>T	p.His895Tyr	p.H895Y	ENST00000262315	NM_022092.2	895	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS45371.1	2683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACCATGAG	NONE	.	.	hmmpanther:PTHR23389:SF3,hmmpanther:PTHR23389	.	.	ENSP00000262315	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000262315	Transcript	.	.	ENSG00000127586	18435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	deleterious(0)	.	CTF18_HUMAN	CHTF18	HGNC	.	.	UPI00000710D2	SNV	CHTF18,missense_variant,p.His895Tyr,ENST00000262315,;CHTF18,missense_variant,p.His1104Tyr,ENST00000317063,;CHTF18,missense_variant,p.His923Tyr,ENST00000455171,;GNG13,downstream_gene_variant,,ENST00000248150,;CHTF18,downstream_gene_variant,,ENST00000461268,;CHTF18,downstream_gene_variant,,ENST00000493715,;CHTF18,upstream_gene_variant,,ENST00000564940,;CHTF18,non_coding_transcript_exon_variant,,ENST00000498439,;CHTF18,non_coding_transcript_exon_variant,,ENST00000464728,;CHTF18,non_coding_transcript_exon_variant,,ENST00000471202,;CHTF18,downstream_gene_variant,,ENST00000565787,;CHTF18,downstream_gene_variant,,ENST00000440239,;CHTF18,downstream_gene_variant,,ENST00000569270,;	2746	44	28	SUCCESS
SREBF1	6720	.	GRCh37	17	17723725	17723725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	32	0	ENST00000261646.5:c.202T>C	p.Ser68Pro	p.S68P	ENST00000261646	NM_004176.4	68	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS32583.1	292	RADIA|VARSCANS	.	TGGGGAGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(0.17)	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,missense_variant,p.Ser44Pro,ENST00000423161,;SREBF1,missense_variant,p.Ser68Pro,ENST00000338854,;SREBF1,missense_variant,p.Ser98Pro,ENST00000355815,;SREBF1,missense_variant,p.Ser68Pro,ENST00000261646,;SREBF1,missense_variant,p.Ser68Pro,ENST00000435530,;SREBF1,5_prime_UTR_variant,,ENST00000577897,;SREBF1,upstream_gene_variant,,ENST00000395757,;SREBF1,non_coding_transcript_exon_variant,,ENST00000583732,;SREBF1,5_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,upstream_gene_variant,,ENST00000583080,;SREBF1,upstream_gene_variant,,ENST00000487401,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,upstream_gene_variant,,ENST00000395756,;SREBF1,upstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000580540,;SREBF1,upstream_gene_variant,,ENST00000470247,;	462	32	38	SUCCESS
GSDMB	55876	.	GRCh37	17	38068752	38068752	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	43	137	0	ENST00000418519.1:c.236-2A>G		p.X79_splice	ENST00000418519	NM_001165958.1	79		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTGGAAA	NONE	.	.	.	.	.	ENSP00000415049	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000418519	Transcript	.	.	ENSG00000073605	23690	.	.	HIGH	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSDMB_HUMAN	GSDMB	HGNC	.	.	UPI0000200C24	SNV	GSDMB,splice_acceptor_variant,,ENST00000520542,;GSDMB,splice_acceptor_variant,,ENST00000394179,;GSDMB,splice_acceptor_variant,,ENST00000360317,;GSDMB,splice_acceptor_variant,,ENST00000394175,;GSDMB,splice_acceptor_variant,,ENST00000418519,;GSDMB,splice_acceptor_variant,,ENST00000309481,;GSDMB,splice_acceptor_variant,,ENST00000523371,;GSDMB,splice_acceptor_variant,,ENST00000477054,;GSDMB,splice_acceptor_variant,,ENST00000522564,;GSDMB,splice_acceptor_variant,,ENST00000524039,;GSDMB,splice_acceptor_variant,,ENST00000464556,;GSDMB,upstream_gene_variant,,ENST00000479136,;GSDMB,upstream_gene_variant,,ENST00000468820,;GSDMB,upstream_gene_variant,,ENST00000519429,;	.	137	171	SUCCESS
CD300LG	146894	.	GRCh37	17	41932594	41932594	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766697730	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	49	0	ENST00000317310.4:c.739C>T	p.Arg247Cys	p.R247C	ENST00000317310	NM_145273.3	247	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11470.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCGCATA	NONE	.	.	hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF42	.	.	ENSP00000321005	.	5/7	.	.	.	.	.	.	.	.	rs766697730	5/7	PASS	ENST00000317310	Transcript	.	.	ENSG00000161649	30455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CLM9_HUMAN	CD300LG	HGNC	.	.	UPI000013E104	SNV	CD300LG,missense_variant,p.Arg247Cys,ENST00000317310,;CD300LG,missense_variant,p.Arg162Cys,ENST00000293396,;CD300LG,missense_variant,p.Arg162Cys,ENST00000586233,;CD300LG,missense_variant,p.Arg213Cys,ENST00000377203,;CD300LG,missense_variant,p.Arg247Cys,ENST00000539718,;CD300LG,upstream_gene_variant,,ENST00000589212,;	780	49	96	SUCCESS
TBX2	6909	.	GRCh37	17	59479112	59479112	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs754473056	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	60	0	ENST00000240328.3:c.463A>T	p.Met155Leu	p.M155L	ENST00000240328	NM_005994.3	155	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS11627.2	463	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGATGGAC	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF82,hmmpanther:PTHR11267,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000240328	.	2/7	.	.	.	.	.	.	.	.	rs754473056	2/7	PASS	ENST00000240328	Transcript	.	.	ENSG00000121068	11597	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.887)	.	deleterious(0.01)	.	TBX2_HUMAN	TBX2	HGNC	.	.	UPI000020116F	SNV	TBX2,missense_variant,p.Met155Leu,ENST00000240328,;RP11-332H18.4,intron_variant,,ENST00000592009,;RP11-332H18.4,upstream_gene_variant,,ENST00000591313,;RP11-332H18.5,upstream_gene_variant,,ENST00000585765,;RP11-332H18.4,upstream_gene_variant,,ENST00000590421,;RP11-332H18.4,upstream_gene_variant,,ENST00000589814,;TBX2,stop_lost,p.Ter147CysextTer4,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;	744	60	55	SUCCESS
ABCA6	23460	.	GRCh37	17	67110945	67110945	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs753829902	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	256	75	176	0	ENST00000284425.2:c.1740del	p.Phe580LeufsTer4	p.F580Lfs*4	ENST00000284425	NM_080284.2	580	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS11683.1	1740	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTAGCAAACAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF13,hmmpanther:PTHR19229,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000284425	.	13/39	.	.	.	.	.	.	.	.	rs753829902	13/39	PASS	ENST00000284425	Transcript	.	.	ENSG00000154262	36	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCA6_HUMAN	ABCA6	HGNC	.	.	UPI000013DD9D	deletion	ABCA6,frameshift_variant,p.Phe580LeufsTer4,ENST00000284425,;ABCA6,non_coding_transcript_exon_variant,,ENST00000592493,;ABCA6,non_coding_transcript_exon_variant,,ENST00000589803,;ABCA6,non_coding_transcript_exon_variant,,ENST00000590311,;	1915	176	331	SUCCESS
TP53	7157	.	GRCh37	17	7578419	7578419	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs587781845	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	74	0	ENST00000269305.4:c.511G>T	p.Glu171Ter	p.E171*	ENST00000269305	NM_001126112.2	171	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11118.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	AACCTCCGTCA	SITE|p.E78*|c.232G>T|4,SITE|p.E171*|c.511G>T|4,SITE|p.E39*|c.115G>T|4,SITE|p.E171*|c.511G>T|13,SITE|p.E171*|c.511G>T|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.E171G|c.512A>G|3,BUFFER|p.R174K|c.521G>A|5,BUFFER|p.R174W|c.520A>T|11,BUFFER|p.V173V|c.519G>A|6,BUFFER|p.V173V|c.519G>T|3,BUFFER|p.V173A|c.518T>C|14,BUFFER|p.V173G|c.518T>G|8,BUFFER|p.V173E|c.518T>A|4,BUFFER|p.V41E|c.122T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V80E|c.239T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V173fs*1|c.517delG|4,BUFFER|p.V41L|c.121G>T|9,BUFFER|p.V80L|c.238G>T|9,BUFFER|p.V173M|c.517G>A|10,BUFFER|p.V80L|c.238G>C|5,BUFFER|p.V41M|c.121G>A|11,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|11,BUFFER|p.V173L|c.517G>C|15,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V80M|c.238G>A|11,BUFFER|p.V173L|c.517G>T|52,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173M|c.517G>A|50,BUFFER|p.V41L|c.121G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V172D|c.515T>A|11,BUFFER|p.V172A|c.515T>C|4,BUFFER|p.V172G|c.515T>G|4,BUFFER|p.V172fs*2|c.514delG|3,BUFFER|p.V79F|c.235G>T|5,BUFFER|p.V172F|c.514G>T|16,BUFFER|p.V172F|c.514G>T|4,BUFFER|p.V40F|c.118G>T|6,BUFFER|p.V172F|c.514G>T|5,BUFFER|p.V172F|c.514G>T|5,BUFFER|p.V172I|c.514G>A|8,BUFFER|p.V172F|c.514G>T|4,BUFFER|p.E171Q|c.511G>C|4,BUFFER|p.E171K|c.511G>A|9,BUFFER|p.T170T|c.510G>A|6,BUFFER|p.T170M|c.509C>T|7,BUFFER|p.M169I|c.507G>A|7,BUFFER|p.M169T|c.506T>C|4,BUFFER|p.M169V|c.505A>G|3,BUFFER|p.H168H|c.504C>T|4,BUFFER|p.H75R|c.224A>G|3,BUFFER|p.H168R|c.503A>G|15,BUFFER|p.H168L|c.503A>T|6,BUFFER|p.H168R|c.503A>G|3,BUFFER|p.H168P|c.503A>C|12,BUFFER|p.H168R|c.503A>G|3,BUFFER|p.H168R|c.503A>G|3,BUFFER|p.H168R|c.503A>G|3,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H168Y|c.502C>T|9,BUFFER|p.Q167fs*13|c.499_500delCA|3,BUFFER|p.Q167Q|c.501G>A|3,BUFFER|p.Q167R|c.500A>G|4,BUFFER|p.Q167L|c.500A>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs587781845,TP53_g.12499G>C,TP53_g.12499G>T,TP53_g.12499del,TP53_g.12499G>A,COSM10996,COSM44312,COSM46095,COSM45751,COSM417964,COSM357723,COSM357724,COSM417965,COSM417967,COSM357726,COSM3421937,COSM4070042,COSM2744871,COSM4070041,COSM357725,COSM417966	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Glu171Ter,ENST00000413465,;TP53,stop_gained,p.Glu171Ter,ENST00000420246,;TP53,stop_gained,p.Glu171Ter,ENST00000269305,;TP53,stop_gained,p.Glu39Ter,ENST00000509690,;TP53,stop_gained,p.Glu171Ter,ENST00000359597,;TP53,stop_gained,p.Glu78Ter,ENST00000514944,;TP53,stop_gained,p.Glu171Ter,ENST00000445888,;TP53,stop_gained,p.Glu171Ter,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	701	74	54	SUCCESS
PPP1R27	116729	.	GRCh37	17	79791780	79791780	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	37	0	ENST00000330261.4:c.342-52A>T		p.*114*	ENST00000330261	NM_001007533.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32767.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGCTCGCCC	NONE	.	.	.	.	.	ENSP00000331065	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330261	Transcript	.	.	ENSG00000182676	16813	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPR27_HUMAN	PPP1R27	HGNC	I3L267_HUMAN	.	UPI0000061E1A	SNV	PPP1R27,3_prime_UTR_variant,,ENST00000570394,;PPP1R27,intron_variant,,ENST00000330261,;FAM195B,upstream_gene_variant,,ENST00000575061,;FAM195B,upstream_gene_variant,,ENST00000455127,;FAM195B,upstream_gene_variant,,ENST00000572645,;FAM195B,upstream_gene_variant,,ENST00000576431,;FAM195B,upstream_gene_variant,,ENST00000538396,;FAM195B,upstream_gene_variant,,ENST00000573478,;PPP1R27,intron_variant,,ENST00000573182,;	.	37	37	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60242702	60242702	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	48	117	0	ENST00000269499.5:c.3388A>C	p.Asn1130His	p.N1130H	ENST00000269499	NM_017742.4	1130	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS45880.1	3388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGAATGTC	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13,Superfamily_domains:SSF57756	.	.	ENSP00000269499	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.664)	.	deleterious(0)	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,missense_variant,p.Asn809His,ENST00000586834,;ZCCHC2,missense_variant,p.Asn1130His,ENST00000269499,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000587612,;ZCCHC2,missense_variant,p.Asn1050His,ENST00000585873,;ZCCHC2,missense_variant,p.Asn58His,ENST00000591145,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;	3806	117	179	SUCCESS
SARS2	54938	.	GRCh37	19	39408640	39408640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	53	125	0	ENST00000221431.6:c.971G>T	p.Cys324Phe	p.C324F	ENST00000221431	NM_017827.3	324	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS54265.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCAAACC	NONE	.	.	PROSITE_profiles:PS50862,hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,TIGRFAM_domain:TIGR00414,Pfam_domain:PF00587,Gene3D:3.30.930.10,PIRSF_domain:PIRSF001529,Superfamily_domains:SSF55681	.	.	ENSP00000472847	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,missense_variant,p.Cys326Phe,ENST00000600042,;SARS2,missense_variant,p.Cys324Phe,ENST00000448145,;SARS2,missense_variant,p.Cys324Phe,ENST00000221431,;SARS2,missense_variant,p.Cys134Phe,ENST00000594171,;SARS2,missense_variant,p.Cys324Phe,ENST00000430193,;CTC-360G5.8,missense_variant,p.Cys394Phe,ENST00000599996,;SARS2,upstream_gene_variant,,ENST00000598831,;SARS2,3_prime_UTR_variant,,ENST00000455102,;SARS2,non_coding_transcript_exon_variant,,ENST00000598563,;SARS2,downstream_gene_variant,,ENST00000598343,;SARS2,downstream_gene_variant,,ENST00000598598,;SARS2,upstream_gene_variant,,ENST00000594259,;SARS2,upstream_gene_variant,,ENST00000597490,;SARS2,downstream_gene_variant,,ENST00000602034,;SARS2,downstream_gene_variant,,ENST00000593754,;SARS2,downstream_gene_variant,,ENST00000600448,;	1002	125	170	SUCCESS
FLT3LG	2323	.	GRCh37	19	49979723	49979723	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1195581012	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	44	0	ENST00000594009.1:c.242G>A	p.Arg81His	p.R81H	ENST00000594009	NM_001204503.1	81	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12767.1	242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGCTGGA	NONE	.	.	hmmpanther:PTHR11032,hmmpanther:PTHR11032:SF1,Pfam_domain:PF02947,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000469613	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000594009	Transcript	.	.	ENSG00000090554	3766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	deleterious(0.02)	.	FLT3L_HUMAN	FLT3LG	HGNC	Q05C96_HUMAN	.	UPI0000037544	SNV	FLT3LG,missense_variant,p.Arg81His,ENST00000600429,;FLT3LG,missense_variant,p.Arg81His,ENST00000597551,;FLT3LG,missense_variant,p.Arg81His,ENST00000344019,;FLT3LG,missense_variant,p.Arg41His,ENST00000598555,;FLT3LG,missense_variant,p.Arg81His,ENST00000596435,;FLT3LG,missense_variant,p.Arg81His,ENST00000594009,;FLT3LG,5_prime_UTR_variant,,ENST00000595510,;FLT3LG,5_prime_UTR_variant,,ENST00000204637,;FLT3LG,upstream_gene_variant,,ENST00000597914,;CTD-3148I10.15,non_coding_transcript_exon_variant,,ENST00000595815,;FLT3LG,3_prime_UTR_variant,,ENST00000600084,;FLT3LG,3_prime_UTR_variant,,ENST00000601800,;FLT3LG,non_coding_transcript_exon_variant,,ENST00000593422,;FLT3LG,non_coding_transcript_exon_variant,,ENST00000598472,;CTD-3148I10.9,intron_variant,,ENST00000599536,;	321	44	57	SUCCESS
COL11A1	1301	.	GRCh37	1	103491141	103491141	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766508371	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	340	61	292	0	ENST00000370096.3:c.926A>G	p.Tyr309Cys	p.Y309C	ENST00000370096	NM_001854.3	309	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS778.1	926	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGTATTCT	NONE	byFrequency	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	7/67	.	.	.	.	.	.	.	.	rs766508371	7/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Tyr270Cys,ENST00000353414,;COL11A1,missense_variant,p.Tyr321Cys,ENST00000427239,;COL11A1,missense_variant,p.Tyr309Cys,ENST00000370096,;COL11A1,missense_variant,p.Tyr321Cys,ENST00000358392,;COL11A1,intron_variant,,ENST00000512756,;	1239	292	401	SUCCESS
FAM63A	0	.	GRCh37	1	150974678	150974679	+	inframe_insertion	In_Frame_Ins	INS	-	-	GAG	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	181	66	171	0	ENST00000361738.6:c.557_559dup	p.Pro186dup	p.P186dup	ENST00000361738	NM_001163258.1	186	ctc/cCTCtc	0	.	.	.	.	.	GAG	L/PL	protein_coding	YES	CCDS53361.1	559-560	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGGAGAGGG	NONE	.	.	hmmpanther:PTHR18063:SF7,hmmpanther:PTHR18063	.	.	ENSP00000354669	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000361738	Transcript	.	.	ENSG00000143409	25648	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA63A_HUMAN	FAM63A	HGNC	.	.	UPI0001AE7915	insertion	FAM63A,inframe_insertion,p.Pro186dup,ENST00000361738,;FAM63A,inframe_insertion,p.Pro43dup,ENST00000493834,;FAM63A,inframe_insertion,p.Pro138dup,ENST00000361936,;FAM63A,5_prime_UTR_variant,,ENST00000312210,;FAM63A,upstream_gene_variant,,ENST00000497067,;FAM63A,intron_variant,,ENST00000470877,;	779-780	171	247	SUCCESS
ZNF687	57592	.	GRCh37	1	151262327	151262328	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs749403447	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	78	0	ENST00000324048.5:c.2815dup	p.Arg939ProfsTer36	p.R939Pfs*36	ENST00000324048		936	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS992.1	2808-2809	INDELOCATOR|VARSCANI	.	CCTGAGCCCCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402	.	.	ENSP00000319829	.	7/10	.	.	.	.	.	.	.	.	rs749403447	7/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	insertion	ZNF687,frameshift_variant,p.Arg939ProfsTer36,ENST00000324048,;ZNF687,frameshift_variant,p.Arg939ProfsTer36,ENST00000368879,;ZNF687,frameshift_variant,p.Arg542ProfsTer36,ENST00000426871,;ZNF687,frameshift_variant,p.Arg939ProfsTer36,ENST00000336715,;PI4KB,downstream_gene_variant,,ENST00000455060,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368875,;PI4KB,downstream_gene_variant,,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000368874,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000529142,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000368872,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,3_prime_UTR_variant,,ENST00000449313,;ZNF687,downstream_gene_variant,,ENST00000459919,;	3778-3779	78	87	SUCCESS
C1orf68	100129271	.	GRCh37	1	152692135	152692135	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	58	191	0	ENST00000368775.2:c.140del	p.Pro47LeufsTer10	p.P47Lfs*10	ENST00000368775	NM_001024679.2	46	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS44226.1	138	INDELOCATOR*|VARSCANI*|PINDEL	.	GACAGGCCCTGC	NONE	.	.	.	.	.	ENSP00000357764	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368775	Transcript	.	.	ENSG00000198854	29468	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XP32_HUMAN	C1orf68	HGNC	.	.	UPI00001C1D9F	deletion	C1orf68,frameshift_variant,p.Pro47LeufsTer10,ENST00000368775,;	138	191	275	SUCCESS
ASH1L	55870	.	GRCh37	1	155308071	155308071	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs768724603	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	53	131	0	ENST00000368346.3:c.8627A>C	p.Asn2876Thr	p.N2876T	ENST00000368346		2876	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS1113.2	8612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCATTGGCT	NONE	.	.	.	.	.	ENSP00000376204	.	27/28	.	.	.	.	.	.	.	.	rs768724603	27/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.47)	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Asn2876Thr,ENST00000368346,;ASH1L,missense_variant,p.Asn2871Thr,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000478837,;	9091	131	183	SUCCESS
SLAMF6	114836	.	GRCh37	1	160461021	160461021	+	synonymous_variant	Silent	SNP	A	A	G	rs1468068474	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	63	164	0	ENST00000368057.3:c.540T>C	p.Thr180=	p.T180=	ENST00000368057		180	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS53394.1	540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACAGTGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF16,Pfam_domain:PF13927,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000357036	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000368057	Transcript	.	.	ENSG00000162739	21392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLAF6_HUMAN	SLAMF6	HGNC	.	.	UPI0000051E34	SNV	SLAMF6,synonymous_variant,p.%3D,ENST00000368055,;SLAMF6,synonymous_variant,p.%3D,ENST00000368057,;SLAMF6,synonymous_variant,p.%3D,ENST00000368059,;	601	164	221	SUCCESS
KCNT2	343450	.	GRCh37	1	196274453	196274458	+	inframe_deletion	In_Frame_Del	DEL	TAATAC	TAATAC	-	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	TAATAC	TAATAC	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	79	0	ENST00000294725.9:c.2501_2506del	p.Ser834_Ile835del	p.S834_I835del	ENST00000294725		834	aGTATTAtc/atc	0	.	.	.	.	.	-	SII/I	protein_coding	YES	CCDS1384.1	2501-2506	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTGATAATACTGAGA	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Gene3D:3.40.50.720	.	.	ENSP00000294725	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	deletion	KCNT2,inframe_deletion,p.Ser760_Ile761del,ENST00000609185,;KCNT2,inframe_deletion,p.Ser834_Ile835del,ENST00000294725,;KCNT2,inframe_deletion,p.Ser810_Ile811del,ENST00000367433,;KCNT2,inframe_deletion,p.Ser760_Ile761del,ENST00000367431,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;	3417-3422	79	101	SUCCESS
CYP4Z1	199974	.	GRCh37	1	47571829	47571829	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs766692536	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	99	211	0	ENST00000334194.3:c.1097C>G	p.Thr366Arg	p.T366R	ENST00000334194	NM_178134.2	366	aCg/aGg	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS545.1	1097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCACGATGT	NONE	.	.	Superfamily_domains:SSF48264,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF6	.	.	ENSP00000334246	.	9/12	.	.	.	.	.	.	.	.	rs766692536	9/12	PASS	ENST00000334194	Transcript	.	.	ENSG00000186160	20583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CP4Z1_HUMAN	CYP4Z1	HGNC	.	.	UPI00000477F8	SNV	CYP4Z1,missense_variant,p.Thr366Arg,ENST00000334194,;CYP4A22-AS1,intron_variant,,ENST00000444042,;	1100	211	280	SUCCESS
IL12RB2	3595	.	GRCh37	1	67787396	67787396	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs149868445	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	61	168	0	ENST00000262345.1:c.188C>A	p.Ser63Tyr	p.S63Y	ENST00000262345	NM_001559.2	63	tCc/tAc	0	T:0	.	.	.	.	A	S/Y	protein_coding	YES	CCDS638.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATTCCAGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,Pfam_domain:PF06328	.	T:0.0001	ENSP00000262345	.	3/16	.	.	.	.	.	.	.	.	rs149868445	3/16	PASS	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.513)	.	deleterious(0)	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,missense_variant,p.Ser63Tyr,ENST00000541374,;IL12RB2,missense_variant,p.Ser63Tyr,ENST00000544434,;IL12RB2,missense_variant,p.Ser63Tyr,ENST00000262345,;IL12RB2,missense_variant,p.Ser63Tyr,ENST00000371000,;	828	168	191	SUCCESS
PAX1	5075	.	GRCh37	20	21687580	21687580	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	45	0	ENST00000398485.2:c.791G>A	p.Gly264Asp	p.G264D	ENST00000398485	NM_006192.4	264	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS13146.2	791	RADIA|MUTECT|MUSE|VARSCANS	.	CACGGGCGCCA	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262	.	.	ENSP00000381499	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000398485	Transcript	1	.	ENSG00000125813	8615	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.778)	.	deleterious(0.02)	.	PAX1_HUMAN	PAX1	HGNC	.	.	UPI000179A786	SNV	PAX1,missense_variant,p.Gly240Asp,ENST00000444366,;PAX1,missense_variant,p.Gly264Asp,ENST00000398485,;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	845	45	33	SUCCESS
C20orf62	0	.	GRCh37	20	43093812	43093812	+	synonymous_variant	Silent	SNP	C	C	A	rs765534990	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	40	83	0	ENST00000372910.3:c.108G>T	p.Ser36=	p.S36=	ENST00000372910	NM_001287807.1	36	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	.	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTACGAGTC	NONE	byFrequency	.	.	.	.	ENSP00000362001	.	1/2	.	.	.	.	.	.	.	.	rs765534990,COSM1615636	1/2	PASS	ENST00000372910	Transcript	.	.	ENSG00000168746	16195	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CT062_HUMAN	C20orf62	HGNC	.	.	UPI0000198842	SNV	C20orf62,synonymous_variant,p.%3D,ENST00000372910,;C20orf62,synonymous_variant,p.%3D,ENST00000306731,;RPL37AP1,downstream_gene_variant,,ENST00000412502,;	173	83	132	SUCCESS
SEMG2	6407	.	GRCh37	20	43851219	43851219	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	60	162	0	ENST00000372769.3:c.946A>T	p.Ile316Phe	p.I316F	ENST00000372769	NM_003008.2	316	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS13346.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTATCCAA	NONE	.	.	hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6,Pfam_domain:PF05474	.	.	ENSP00000361855	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000372769	Transcript	.	.	ENSG00000124157	10743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	tolerated(0.08)	.	SEMG2_HUMAN	SEMG2	HGNC	.	.	UPI0000135845	SNV	SEMG2,missense_variant,p.Ile316Phe,ENST00000372769,;	1036	162	239	SUCCESS
CECR2	27443	.	GRCh37	22	18028982	18028982	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	60	0	ENST00000262608.8:c.3942A>G	p.Ala1314=	p.A1314=	ENST00000262608	NM_031413.3	1314	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	.	3942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCATTTCC	NONE	.	.	.	.	.	ENSP00000262608	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000262608	Transcript	.	.	ENSG00000099954	1840	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CECR2_HUMAN	CECR2	HGNC	.	.	UPI0001AE62C8	SNV	CECR2,synonymous_variant,p.%3D,ENST00000400573,;CECR2,synonymous_variant,p.%3D,ENST00000400585,;CECR2,synonymous_variant,p.%3D,ENST00000262608,;CECR2,synonymous_variant,p.%3D,ENST00000355219,;	3942	60	83	SUCCESS
PHF21B	112885	.	GRCh37	22	45289355	45289355	+	synonymous_variant	Silent	SNP	G	G	A	rs762856929	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	30	116	1	ENST00000313237.5:c.942C>T	p.Ser314=	p.S314=	ENST00000313237	NM_138415.4	314	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14061.1	942	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCTGTA	NONE	byFrequency	.	hmmpanther:PTHR24102:SF1,hmmpanther:PTHR24102	.	.	ENSP00000324403	.	7/13	.	.	.	.	.	.	.	.	rs762856929	7/13	PASS	ENST00000313237	Transcript	.	.	ENSG00000056487	25161	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PF21B_HUMAN	PHF21B	HGNC	B3KTL5_HUMAN	.	UPI0000072111	SNV	PHF21B,synonymous_variant,p.%3D,ENST00000447824,;PHF21B,synonymous_variant,p.%3D,ENST00000396103,;PHF21B,synonymous_variant,p.%3D,ENST00000313237,;PHF21B,synonymous_variant,p.%3D,ENST00000414269,;PHF21B,synonymous_variant,p.%3D,ENST00000404079,;PHF21B,synonymous_variant,p.%3D,ENST00000403565,;	1093	117	167	SUCCESS
NRXN1	9378	.	GRCh37	2	50758388	50758388	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369744946	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	72	0	ENST00000406316.2:c.2324G>A	p.Arg775His	p.R775H	ENST00000406316	NM_004801.4	775	cGt/cAt	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS46282.1	2444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACGTCCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	T:0	ENSP00000385142	.	12/24	.	.	.	.	.	.	.	.	rs369744946	12/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.Arg767His,ENST00000405472,;NRXN1,missense_variant,p.Arg815His,ENST00000404971,;NRXN1,missense_variant,p.Arg775His,ENST00000406316,;NRXN1,missense_variant,p.Arg775His,ENST00000401669,;NRXN1,missense_variant,p.Arg775His,ENST00000406859,;NRXN1,missense_variant,p.Arg767His,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,intron_variant,,ENST00000495871,;NRXN1,upstream_gene_variant,,ENST00000474354,;	3784	72	95	SUCCESS
BCL11A	53335	.	GRCh37	2	60688821	60688821	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	27	100	0	ENST00000335712.6:c.1226T>G	p.Leu409Arg	p.L409R	ENST00000335712	NM_022893.3	409	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS1862.1	1226	RADIA|MUTECT|MUSE|VARSCANS	.	CGCACAGGTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000338774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335712	Transcript	.	.	ENSG00000119866	13221	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	BC11A_HUMAN	BCL11A	HGNC	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN	.	UPI000013DC00	SNV	BCL11A,missense_variant,p.Leu375Arg,ENST00000538214,;BCL11A,missense_variant,p.Leu375Arg,ENST00000358510,;BCL11A,missense_variant,p.Leu409Arg,ENST00000356842,;BCL11A,missense_variant,p.Leu78Arg,ENST00000537768,;BCL11A,missense_variant,p.Leu409Arg,ENST00000335712,;BCL11A,intron_variant,,ENST00000359629,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	1454	100	115	SUCCESS
KRCC1	51315	.	GRCh37	2	88327723	88327723	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	346	127	332	1	ENST00000347055.3:c.360T>C	p.Phe120=	p.F120=	ENST00000347055	NM_016618.1	120	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS2000.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTAAAGTT	NONE	.	.	hmmpanther:PTHR23067:SF36,hmmpanther:PTHR23067	.	.	ENSP00000340083	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000347055	Transcript	.	.	ENSG00000172086	28039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRCC1_HUMAN	KRCC1	HGNC	.	.	UPI000004A006	SNV	KRCC1,synonymous_variant,p.%3D,ENST00000347055,;	754	333	474	SUCCESS
MME	4311	.	GRCh37	3	154886382	154886382	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	89	219	0	ENST00000360490.2:c.1882A>C	p.Asn628His	p.N628H	ENST00000360490	NM_007289.2	628	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS3172.1	1882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAACTTT	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF114,hmmpanther:PTHR11733	.	.	ENSP00000418525	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000460393	Transcript	.	.	ENSG00000196549	7154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NEP_HUMAN	MME	HGNC	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN	.	UPI0000033C41	SNV	MME,missense_variant,p.Asn628His,ENST00000360490,;MME,missense_variant,p.Asn628His,ENST00000460393,;MME,missense_variant,p.Asn628His,ENST00000492661,;MME,missense_variant,p.Asn628His,ENST00000493237,;MME,missense_variant,p.Asn628His,ENST00000462745,;MME-AS1,intron_variant,,ENST00000484721,;MME,non_coding_transcript_exon_variant,,ENST00000495577,;MME,upstream_gene_variant,,ENST00000493888,;	2002	219	357	SUCCESS
GNAT1	2779	.	GRCh37	3	50231028	50231028	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs759804674	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	40	0	ENST00000232461.3:c.381G>A	p.Trp127Ter	p.W127*	ENST00000232461	NM_144499.2	127	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS2812.1	381	MUTECT|MUSE	.	CTGTGGAAGGA	NONE	.	.	hmmpanther:PTHR10218:SF67,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000232461	.	4/9	.	.	.	.	.	.	.	.	rs759804674	4/9	PASS	ENST00000232461	Transcript	.	.	ENSG00000114349	4393	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNAT1_HUMAN	GNAT1	HGNC	C9JCV8_HUMAN	.	UPI000000124C	SNV	GNAT1,stop_gained,p.Trp127Ter,ENST00000433068,;GNAT1,stop_gained,p.Trp79Ter,ENST00000440836,;GNAT1,stop_gained,p.Trp127Ter,ENST00000232461,;SEMA3F,downstream_gene_variant,,ENST00000413852,;SEMA3F,downstream_gene_variant,,ENST00000434342,;SEMA3F,downstream_gene_variant,,ENST00000002829,;GNAT1,non_coding_transcript_exon_variant,,ENST00000481246,;GNAT1,downstream_gene_variant,,ENST00000467787,;	495	40	49	SUCCESS
DNAH1	25981	.	GRCh37	3	52393977	52393977	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs200763734	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	33	98	0	ENST00000420323.2:c.4453C>T	p.Gln1485Ter	p.Q1485*	ENST00000420323	NM_015512.4	1485	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS46842.1	4453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCAGCGG	NONE	byCluster	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	27/78	.	.	.	.	.	.	.	.	rs200763734	27/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,stop_gained,p.Gln1485Ter,ENST00000420323,;DNAH1,upstream_gene_variant,,ENST00000466628,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;	4714	98	115	SUCCESS
RBM46	166863	.	GRCh37	4	155719372	155719372	+	synonymous_variant	Silent	SNP	A	A	G	rs1298098399	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	38	165	1	ENST00000281722.3:c.561A>G	p.Ala187=	p.A187=	ENST00000281722	NM_144979.4	187	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3790.1	561	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCATTTGT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF272,PROSITE_profiles:PS50102	.	.	ENSP00000281722	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000281722	Transcript	.	.	ENSG00000151962	28401	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBM46_HUMAN	RBM46	HGNC	D6RF41_HUMAN	.	UPI000007173F	SNV	RBM46,synonymous_variant,p.%3D,ENST00000510397,;RBM46,synonymous_variant,p.%3D,ENST00000281722,;RBM46,synonymous_variant,p.%3D,ENST00000514866,;RBM46,downstream_gene_variant,,ENST00000512640,;	796	166	194	SUCCESS
SHROOM3	57619	.	GRCh37	4	77677614	77677618	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTA	TTCTA	-	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	TTCTA	TTCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	76	0	ENST00000296043.6:c.4722_4726del	p.Lys1576AspfsTer17	p.K1576Dfs*17	ENST00000296043	NM_020859.3	1574	ctTTCTAaa/ctaa	0	.	.	.	.	.	-	LSK/LX	protein_coding	YES	CCDS3579.2	4722-4726	VARSCANI*|PINDEL	.	CAAACTTTCTAAAGTG	NONE	.	.	hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	.	.	ENSP00000296043	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	deletion	SHROOM3,frameshift_variant,p.Lys1576AspfsTer17,ENST00000296043,;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,downstream_gene_variant,,ENST00000469923,;	5675-5679	76	66	SUCCESS
MCC	4163	.	GRCh37	5	112364451	112364451	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	28	0	ENST00000302475.4:c.2309+180T>C		p.*770*	ENST00000302475	NM_002387.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43351.1	.	RADIA|VARSCANS	.	TTGGGAGATGC	NONE	.	.	.	.	.	ENSP00000386227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODIFIER	18/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,intron_variant,,ENST00000302475,;MCC,intron_variant,,ENST00000515367,;MCC,intron_variant,,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	.	28	29	SUCCESS
SPATA24	202051	.	GRCh37	5	138739744	138739744	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	24	0	ENST00000450845.2:c.6G>T	p.Ala2=	p.A2=	ENST00000450845	NM_194296.1	2	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47274.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGTCGCCAT	NONE	.	.	.	.	.	ENSP00000414920	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000450845	Transcript	.	.	ENSG00000170469	27322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPA24_HUMAN	SPATA24	HGNC	.	.	UPI0000198A05	SNV	SPATA24,synonymous_variant,p.%3D,ENST00000451821,;SPATA24,synonymous_variant,p.%3D,ENST00000507779,;SPATA24,synonymous_variant,p.%3D,ENST00000450845,;SPATA24,synonymous_variant,p.%3D,ENST00000509959,;SPATA24,synonymous_variant,p.%3D,ENST00000302091,;SPATA24,upstream_gene_variant,,ENST00000512761,;SPATA24,upstream_gene_variant,,ENST00000514983,;DNAJC18,downstream_gene_variant,,ENST00000515559,;	14	24	34	SUCCESS
MROH2B	133558	.	GRCh37	5	41065451	41065451	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	41	0	ENST00000399564.4:c.343G>A	p.Glu115Lys	p.E115K	ENST00000399564	NM_173489.4	115	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47202.1	343	RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCAGCCA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10	.	.	ENSP00000382476	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.336)	.	tolerated(0.09)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Glu115Lys,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	794	41	69	SUCCESS
MROH2B	133558	.	GRCh37	5	41065590	41065590	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	53	0	ENST00000399564.4:c.204G>T	p.Met68Ile	p.M68I	ENST00000399564	NM_173489.4	68	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS47202.1	204	MUTECT|MUSE	.	CTGAGCATCTG	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10	.	.	ENSP00000382476	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Met68Ile,ENST00000399564,;MROH2B,splice_region_variant,,ENST00000508575,;	655	53	71	SUCCESS
MROH2B	133558	.	GRCh37	5	41065593	41065593	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	51	0	ENST00000399564.4:c.202-1G>C		p.X68_splice	ENST00000399564	NM_173489.4	68		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47202.1	.	MUTECT|MUSE	.	AGCATCTGAGG	NONE	.	.	.	.	.	ENSP00000382476	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	HIGH	3/41	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,splice_acceptor_variant,,ENST00000399564,;MROH2B,splice_acceptor_variant,,ENST00000508575,;	.	51	70	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73048919	73048919	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	31	90	0	ENST00000426542.2:c.367G>T	p.Ala123Ser	p.A123S	ENST00000426542		123	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47231.2	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGCCTTG	NONE	.	.	hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825	.	.	ENSP00000441913	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.19)	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,missense_variant,p.Ala123Ser,ENST00000437974,;ARHGEF28,missense_variant,p.Ala123Ser,ENST00000513042,;ARHGEF28,missense_variant,p.Ala123Ser,ENST00000287898,;ARHGEF28,missense_variant,p.Ala123Ser,ENST00000545377,;ARHGEF28,missense_variant,p.Ala123Ser,ENST00000426542,;ARHGEF28,missense_variant,p.Ala123Ser,ENST00000296794,;ARHGEF28,downstream_gene_variant,,ENST00000509848,;	543	90	138	SUCCESS
LNPEP	4012	.	GRCh37	5	96358073	96358073	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	92	0	ENST00000231368.5:c.2446A>G	p.Met816Val	p.M816V	ENST00000231368	NM_005575.2	816	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS4087.1	2446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTATGCGA	NONE	.	.	Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	.	.	ENSP00000231368	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000231368	Transcript	.	.	ENSG00000113441	6656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	LCAP_HUMAN	LNPEP	HGNC	.	.	UPI000013C94B	SNV	LNPEP,missense_variant,p.Met802Val,ENST00000395770,;LNPEP,missense_variant,p.Met816Val,ENST00000231368,;	3138	92	165	SUCCESS
MICAL1	64780	.	GRCh37	6	109768571	109768571	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	72	0	ENST00000358807.3:c.2059C>T	p.Gln687Ter	p.Q687*	ENST00000358807	NM_022765.3	687	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5076.1	2059	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTGGGATG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF259	.	.	ENSP00000351664	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000358807	Transcript	.	.	ENSG00000135596	20619	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MICA1_HUMAN	MICAL1	HGNC	Q5TED7_HUMAN,H0UI45_HUMAN	.	UPI00000745D0	SNV	MICAL1,stop_gained,p.Gln687Ter,ENST00000358807,;MICAL1,stop_gained,p.Gln249Ter,ENST00000433205,;MICAL1,stop_gained,p.Gln601Ter,ENST00000358577,;MICAL1,stop_gained,p.Gln706Ter,ENST00000368952,;SMPD2,downstream_gene_variant,,ENST00000258052,;MICAL1,downstream_gene_variant,,ENST00000431946,;SMPD2,downstream_gene_variant,,ENST00000458487,;MICAL1,downstream_gene_variant,,ENST00000483856,;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,;MICAL1,non_coding_transcript_exon_variant,,ENST00000465904,;SMPD2,downstream_gene_variant,,ENST00000439615,;	2371	72	79	SUCCESS
MYO6	4646	.	GRCh37	6	76596568	76596568	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1352587099	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	63	0	ENST00000369977.3:c.2515G>A	p.Gly839Ser	p.G839S	ENST00000369977	NM_004999.3	839	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS34487.1	2515	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGGTCTG	NONE	.	.	hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140	.	.	ENSP00000358994	.	25/35	.	.	.	.	.	.	.	.	.	25/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.31)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Gly839Ser,ENST00000369985,;MYO6,missense_variant,p.Gly839Ser,ENST00000369977,;MYO6,missense_variant,p.Gly839Ser,ENST00000369981,;MYO6,missense_variant,p.Gly839Ser,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;	2654	63	71	SUCCESS
PRKRIP1	79706	.	GRCh37	7	102016741	102016741	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	765	59	537	0	ENST00000496391.1:c.-464A>T		p.*155*	ENST00000496391				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34714.1	.	MUSE|VARSCANS	.	ATGGAAGGTGA	NONE	.	.	.	.	.	ENSP00000419270	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000496391	Transcript	.	.	ENSG00000128563	21894	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKRI1_HUMAN	PRKRIP1	HGNC	.	.	UPI000003587A	SNV	PRKRIP1,missense_variant,p.Glu2Asp,ENST00000462601,;PRKRIP1,5_prime_UTR_variant,,ENST00000496391,;RP11-163E9.2,non_coding_transcript_exon_variant,,ENST00000484974,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000469763,;RP11-163E9.2,non_coding_transcript_exon_variant,,ENST00000492837,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000477886,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000482465,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000482549,;RP11-163E9.2,non_coding_transcript_exon_variant,,ENST00000476426,;RP11-163E9.1,downstream_gene_variant,,ENST00000426478,;	847	537	824	SUCCESS
ORC5	5001	.	GRCh37	7	103848403	103848403	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs780642882	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	20	0	ENST00000297431.4:c.-51C>T		p.*17*	ENST00000297431	NM_002553.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5734.1	.	MUTECT|MUSE	.	CCCTTGCACAA	NONE	byFrequency	.	.	.	.	ENSP00000297431	.	1/14	.	.	.	.	.	.	.	.	rs780642882	1/14	PASS	ENST00000297431	Transcript	.	.	ENSG00000164815	8491	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ORC5_HUMAN	ORC5	HGNC	Q9UDM8_HUMAN,Q8NDU9_HUMAN,B4DXT8_HUMAN,A4D0P7_HUMAN	.	UPI0000001C1C	SNV	ORC5,5_prime_UTR_variant,,ENST00000297431,;ORC5,5_prime_UTR_variant,,ENST00000545943,;ORC5,5_prime_UTR_variant,,ENST00000447452,;ORC5,non_coding_transcript_exon_variant,,ENST00000485726,;ORC5,5_prime_UTR_variant,,ENST00000448563,;ORC5,5_prime_UTR_variant,,ENST00000422497,;	93	20	32	SUCCESS
SSPO	0	.	GRCh37	7	149485526	149485526	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	90	0	ENST00000378016.2:n.3932G>A		p.*1311*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCTGCT	NONE	.	.	.	.	.	.	.	27/109	.	.	.	.	.	.	.	.	.	27/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,downstream_gene_variant,,ENST00000477518,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;SSPO,downstream_gene_variant,,ENST00000493502,;	3932	90	94	SUCCESS
MLXIPL	51085	.	GRCh37	7	73020297	73020297	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	47	0	ENST00000313375.3:c.763A>G	p.Thr255Ala	p.T255A	ENST00000313375	NM_032953.2	255	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS5553.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTGTCTG	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.626)	.	deleterious(0)	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Thr255Ala,ENST00000313375,;MLXIPL,missense_variant,p.Thr217Ala,ENST00000456640,;MLXIPL,missense_variant,p.Thr255Ala,ENST00000429400,;MLXIPL,missense_variant,p.Thr255Ala,ENST00000354613,;MLXIPL,missense_variant,p.Thr255Ala,ENST00000414749,;MLXIPL,intron_variant,,ENST00000434326,;MLXIPL,intron_variant,,ENST00000395189,;MLXIPL,intron_variant,,ENST00000453275,;MLXIPL,missense_variant,p.Thr255Ala,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;	811	47	56	SUCCESS
RBM48	84060	.	GRCh37	7	92158153	92158153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	116	0	ENST00000265732.5:c.26G>T	p.Gly9Val	p.G9V	ENST00000265732	NM_032120.2	9	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43615.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAGGGAGTT	NONE	.	.	hmmpanther:PTHR20957	.	.	ENSP00000265732	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000265732	Transcript	.	.	ENSG00000127993	21785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.368)	.	tolerated(0.1)	.	RBM48_HUMAN	RBM48	HGNC	.	.	UPI000020F54D	SNV	RBM48,missense_variant,p.Gly9Val,ENST00000481551,;RBM48,missense_variant,p.Gly9Val,ENST00000265732,;RBM48,5_prime_UTR_variant,,ENST00000496410,;PEX1,upstream_gene_variant,,ENST00000248633,;PEX1,upstream_gene_variant,,ENST00000438045,;PEX1,upstream_gene_variant,,ENST00000428214,;PEX1,upstream_gene_variant,,ENST00000484913,;	67	116	134	SUCCESS
PTCD1	26024	.	GRCh37	7	99032672	99032672	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750615515	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	39	0	ENST00000292478.4:c.194G>A	p.Ser65Asn	p.S65N	ENST00000292478	NM_015545.3	65	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS56496.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCTGCCC	NONE	.	.	hmmpanther:PTHR24014:SF5,hmmpanther:PTHR24014	.	.	ENSP00000400168	.	3/9	.	.	.	.	.	.	.	.	rs750615515	3/9	PASS	ENST00000413834	Transcript	.	.	ENSG00000248919	38844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.14)	.	.	ATP5J2-PTCD1	HGNC	G3V325_HUMAN,C9JWL7_HUMAN,C9JQN9_HUMAN,C9JGL8_HUMAN,C9JBD7_HUMAN,A4D273_HUMAN	.	UPI000198CE57	SNV	ATP5J2-PTCD1,missense_variant,p.Ser114Asn,ENST00000413834,;PTCD1,missense_variant,p.Ser65Asn,ENST00000292478,;PTCD1,missense_variant,p.Ser65Asn,ENST00000430029,;PTCD1,missense_variant,p.Ser65Asn,ENST00000430982,;PTCD1,missense_variant,p.Ser114Asn,ENST00000555673,;PTCD1,missense_variant,p.Ser65Asn,ENST00000419981,;CPSF4,upstream_gene_variant,,ENST00000412686,;CPSF4,upstream_gene_variant,,ENST00000292476,;CPSF4,upstream_gene_variant,,ENST00000441580,;CPSF4,upstream_gene_variant,,ENST00000451876,;CPSF4,upstream_gene_variant,,ENST00000436336,;ATP5J2-PTCD1,non_coding_transcript_exon_variant,,ENST00000437572,;PTCD1,upstream_gene_variant,,ENST00000485746,;ATP5J2-PTCD1,downstream_gene_variant,,ENST00000451138,;CPSF4,upstream_gene_variant,,ENST00000430038,;CPSF4,upstream_gene_variant,,ENST00000484112,;	364	39	35	SUCCESS
TRHR	7201	.	GRCh37	8	110131669	110131669	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	62	110	0	ENST00000311762.2:c.1182C>A	p.Ser394=	p.S394=	ENST00000311762	NM_003301.5	394	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6311.1	1182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCCTTTAG	NONE	.	.	.	.	.	ENSP00000430711	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000518632	Transcript	1	.	ENSG00000174417	12299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRFR_HUMAN	TRHR	HGNC	.	.	UPI0000050437	SNV	TRHR,synonymous_variant,p.%3D,ENST00000311762,;TRHR,synonymous_variant,p.%3D,ENST00000518632,;	1533	110	278	SUCCESS
ST3GAL1	6482	.	GRCh37	8	134477129	134477129	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	158	147	0	ENST00000399640.2:c.575C>G	p.Pro192Arg	p.P192R	ENST00000399640		192	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS6373.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGGGTAC	NONE	.	.	hmmpanther:PTHR13713:SF39,hmmpanther:PTHR13713,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000318445	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000319914	Transcript	.	.	ENSG00000008513	10862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SIA4A_HUMAN	ST3GAL1	HGNC	E5RHV6_HUMAN,E5RH34_HUMAN,E5RGL4_HUMAN,E5RGI3_HUMAN,E5RG72_HUMAN	.	UPI00000015E1	SNV	ST3GAL1,missense_variant,p.Pro192Arg,ENST00000521180,;ST3GAL1,missense_variant,p.Pro62Arg,ENST00000523854,;ST3GAL1,missense_variant,p.Pro192Arg,ENST00000319914,;ST3GAL1,missense_variant,p.Pro192Arg,ENST00000522652,;ST3GAL1,missense_variant,p.Pro192Arg,ENST00000399640,;ST3GAL1,downstream_gene_variant,,ENST00000517668,;ST3GAL1,downstream_gene_variant,,ENST00000522204,;	1603	147	298	SUCCESS
ZNF596	169270	.	GRCh37	8	195803	195803	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	47	110	0	ENST00000308811.4:c.956G>A	p.Cys319Tyr	p.C319Y	ENST00000308811	NM_173539.2	319	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS5951.2	956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATGTTCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF133,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000381613	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000398612	Transcript	.	.	ENSG00000172748	27268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(1)	.	ZN596_HUMAN	ZNF596	HGNC	E5RJH7_HUMAN,E5RIL8_HUMAN,E5RHT8_HUMAN	.	UPI0000160DBF	SNV	ZNF596,missense_variant,p.Cys249Tyr,ENST00000320552,;ZNF596,missense_variant,p.Cys319Tyr,ENST00000308811,;ZNF596,missense_variant,p.Cys319Tyr,ENST00000398612,;ZNF596,downstream_gene_variant,,ENST00000521145,;ZNF596,downstream_gene_variant,,ENST00000518320,;ZNF596,downstream_gene_variant,,ENST00000521270,;ZNF596,downstream_gene_variant,,ENST00000518414,;ZNF596,downstream_gene_variant,,ENST00000522866,;ZNF596,downstream_gene_variant,,ENST00000521238,;ZNF596,downstream_gene_variant,,ENST00000523333,;ZNF596,downstream_gene_variant,,ENST00000523162,;ZNF596,downstream_gene_variant,,ENST00000523418,;	1339	110	136	SUCCESS
OSGIN2	734	.	GRCh37	8	90937753	90937753	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	121	77	0	ENST00000297438.2:c.1511T>C	p.Ile504Thr	p.I504T	ENST00000297438	NM_004337.2	504	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47888.1	1643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGATAGCTT	NONE	.	.	hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF4	.	.	ENSP00000396445	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000451899	Transcript	.	.	ENSG00000164823	1355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	deleterious_low_confidence(0.01)	.	OSGI2_HUMAN	OSGIN2	HGNC	E5RJZ3_HUMAN	.	UPI0000E5AF0B	SNV	OSGIN2,missense_variant,p.Ile548Thr,ENST00000451899,;OSGIN2,missense_variant,p.Ile504Thr,ENST00000297438,;OSGIN2,downstream_gene_variant,,ENST00000520659,;	1903	77	208	SUCCESS
ZNF462	58499	.	GRCh37	9	109688981	109688981	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	42	1	ENST00000277225.5:c.2788T>C	p.Cys930Arg	p.C930R	ENST00000277225		930	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS35096.1	2788	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTTTTGTTCA	NONE	.	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,Pfam_domain:PF13909,SMART_domains:SM00355	.	.	ENSP00000277225	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,missense_variant,p.Cys930Arg,ENST00000277225,;ZNF462,missense_variant,p.Cys930Arg,ENST00000457913,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000441147,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000480607,;	3077	43	60	SUCCESS
MAGEC1	9947	.	GRCh37	X	140993326	140993326	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761310657	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	39	0	ENST00000285879.4:c.136G>C	p.Asp46His	p.D46H	ENST00000285879	NM_005462.4	46	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS35417.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGACGACACC	NONE	byFrequency	.	.	.	.	ENSP00000285879	.	4/4	.	.	.	.	.	.	.	.	rs761310657,COSM3716543	4/4	PASS	ENST00000285879	Transcript	.	.	ENSG00000155495	6812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.92)	.	deleterious_low_confidence(0.01)	0,1	MAGC1_HUMAN	MAGEC1	HGNC	A0PK03_HUMAN	.	UPI000006F2FD	SNV	MAGEC1,missense_variant,p.Asp46His,ENST00000285879,;MAGEC1,5_prime_UTR_variant,,ENST00000406005,;	422	39	53	SUCCESS
SLITRK2	84631	.	GRCh37	X	144904543	144904543	+	synonymous_variant	Silent	SNP	C	C	A	rs377679182	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	72	0	ENST00000370490.1:c.600C>A	p.Gly200=	p.G200=	ENST00000370490		200	ggC/ggA	0	A:0.0003	.	.	.	.	A	G	protein_coding	YES	CCDS14680.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGTCCT	NONE	byCluster	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	A:0	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	rs377679182	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;SLITRK2,synonymous_variant,p.%3D,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	4855	72	85	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4968285	4968285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	315	106	239	0	ENST00000400457.2:c.2603C>A	p.Pro868Gln	p.P868Q	ENST00000400457	NM_032973.2	868	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS14777.1	2666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCCAAACC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08374	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Pro889Gln,ENST00000215473,;PCDH11Y,missense_variant,p.Pro878Gln,ENST00000333703,;PCDH11Y,missense_variant,p.Pro868Gln,ENST00000400457,;PCDH11Y,missense_variant,p.Pro889Gln,ENST00000362095,;	3400	239	421	SUCCESS
TACR2	6865	.	GRCh37	10	71175920	71175920	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151093941	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	389	0	ENST00000373306.4:c.160G>A	p.Val54Ile	p.V54I	ENST00000373306	NM_001057.2	54	Gtc/Atc	0	T:0	T:0.0008	.	T:0	.	T	V/I	protein_coding	YES	CCDS7293.1	160	RADIA|MUTECT|MUSE|VARSCANS	.	GATGACGATGG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF208,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	T:0	T:0.0006	ENSP00000362403	T:0	1/5	.	.	.	.	.	.	.	.	rs151093941,COSM1474730	1/5	PASS	ENST00000373306	Transcript	.	T:0.0002	ENSG00000075073	11527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.447)	T:0	tolerated(0.05)	0,1	NK2R_HUMAN	TACR2	HGNC	A6NEW7_HUMAN	.	UPI0000061EE3	SNV	TACR2,missense_variant,p.Val54Ile,ENST00000373306,;	704	389	93	SUCCESS
HTR7	3363	.	GRCh37	10	92508894	92508894	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780476203	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	40	239	0	ENST00000336152.3:c.997G>A	p.Val333Ile	p.V333I	ENST00000336152	NM_019859.3	333	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS7408.1	997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGACGATGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247,PROSITE_profiles:PS50262	.	.	ENSP00000337949	.	2/4	.	.	.	.	.	.	.	.	rs780476203	2/4	PASS	ENST00000336152	Transcript	.	.	ENSG00000148680	5302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0.02)	.	5HT7R_HUMAN	HTR7	HGNC	.	.	UPI0000049B68	SNV	HTR7,missense_variant,p.Val333Ile,ENST00000371719,;HTR7,missense_variant,p.Val333Ile,ENST00000371721,;HTR7,missense_variant,p.Val333Ile,ENST00000277874,;HTR7,missense_variant,p.Val333Ile,ENST00000336152,;	1024	239	143	SUCCESS
MUC2	4583	.	GRCh37	11	1077628	1077628	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	345	1	ENST00000441003.2:c.378G>A	p.Leu126=	p.L126=	ENST00000441003	NM_002457.2	126	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	.	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCTCAT	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	3/49	.	.	.	.	.	.	.	.	.	3/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,synonymous_variant,p.%3D,ENST00000359061,;	405	346	75	SUCCESS
CBL	867	.	GRCh37	11	119077309	119077309	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	124	0	ENST00000264033.4:c.182A>G	p.Lys61Arg	p.K61R	ENST00000264033	NM_005188.3	61	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS8418.1	182	RADIA|VARSCANS	.	CTGGAAGCTCA	NONE	.	.	PROSITE_profiles:PS51506,hmmpanther:PTHR23007:SF5,hmmpanther:PTHR23007,Gene3D:3buxB01,Pfam_domain:PF02262,Superfamily_domains:0045208	.	.	ENSP00000264033	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000264033	Transcript	.	.	ENSG00000110395	1541	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.07)	.	tolerated(0.19)	.	CBL_HUMAN	CBL	HGNC	.	.	UPI000013D4A7	SNV	CBL,missense_variant,p.Lys61Arg,ENST00000264033,;	558	124	25	SUCCESS
NAV2	89797	.	GRCh37	11	19955620	19955620	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	298	0	ENST00000396087.3:c.1899C>G	p.Ser633=	p.S633=	ENST00000396087	NM_001244963.1	633	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS58126.1	1899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCCAGTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	8/41	.	.	.	.	.	.	.	.	.	8/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,synonymous_variant,p.%3D,ENST00000396085,;NAV2,synonymous_variant,p.%3D,ENST00000360655,;NAV2,synonymous_variant,p.%3D,ENST00000540292,;NAV2,synonymous_variant,p.%3D,ENST00000527559,;NAV2,synonymous_variant,p.%3D,ENST00000349880,;NAV2,synonymous_variant,p.%3D,ENST00000396087,;NAV2,downstream_gene_variant,,ENST00000528008,;	1998	298	47	SUCCESS
OR51I2	390064	.	GRCh37	11	5474986	5474986	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754539560	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	93	0	ENST00000341449.2:c.268C>T	p.Arg90Cys	p.R90C	ENST00000341449	NM_001004754.2	90	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS31383.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCGCAAC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF112,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000341987	.	1/1	.	.	.	.	.	.	.	.	rs754539560	1/1	PASS	ENST00000341449	Transcript	.	.	ENSG00000187918	15201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	deleterious(0)	.	O51I2_HUMAN	OR51I2	HGNC	.	.	UPI0000041CD1	SNV	OR51I2,missense_variant,p.Arg90Cys,ENST00000341449,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;	349	93	117	SUCCESS
GDPD4	220032	.	GRCh37	11	76969478	76969478	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	86	31	0	ENST00000376217.2:c.817G>A	p.Asp273Asn	p.D273N	ENST00000376217		273	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS8249.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCCCAGT	NONE	.	.	PROSITE_profiles:PS51704,hmmpanther:PTHR23344:SF13,hmmpanther:PTHR23344,Pfam_domain:PF03009,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000320815	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000315938	Transcript	.	.	ENSG00000178795	24849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.26)	.	GDPD4_HUMAN	GDPD4	HGNC	.	.	UPI00001B3DB6	SNV	GDPD4,missense_variant,p.Asp273Asn,ENST00000376217,;GDPD4,missense_variant,p.Asp273Asn,ENST00000315938,;	1068	31	153	SUCCESS
INTS4	92105	.	GRCh37	11	77672039	77672039	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	21	47	0	ENST00000534064.1:c.617A>T	p.Asp206Val	p.D206V	ENST00000534064	NM_033547.3	206	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS31644.1	617	MUTECT|MUSE|VARSCANS	.	CTTGGTCACTG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF13646,hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0	.	.	ENSP00000434466	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000534064	Transcript	.	.	ENSG00000149262	25048	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	INT4_HUMAN	INTS4	HGNC	.	.	UPI00001FB00A	SNV	INTS4,missense_variant,p.Asp206Val,ENST00000529807,;INTS4,missense_variant,p.Asp206Val,ENST00000534064,;INTS4,3_prime_UTR_variant,,ENST00000433818,;	652	47	168	SUCCESS
SUDS3	64426	.	GRCh37	12	118848953	118848953	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	10	0	ENST00000543473.1:c.879A>G	p.Gly293=	p.G293=	ENST00000543473	NM_022491.2	293	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS44993.1	879	RADIA|VARSCANS	.	GTAGGAGCCAA	BUFFER|p.?|c.888+1G>A|3,BUFFER|p.?|c.411+1G>A|3	.	.	hmmpanther:PTHR21964,hmmpanther:PTHR21964:SF11	.	.	ENSP00000443988	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000543473	Transcript	.	.	ENSG00000111707	29545	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SDS3_HUMAN	SUDS3	HGNC	Q52LB7_HUMAN,Q2M2F3_HUMAN	.	UPI00001C1F43	SNV	SUDS3,synonymous_variant,p.%3D,ENST00000397564,;SUDS3,synonymous_variant,p.%3D,ENST00000543473,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541591,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541280,;SUDS3,downstream_gene_variant,,ENST00000360286,;	1191	10	29	SUCCESS
SMCO3	440087	.	GRCh37	12	14959587	14959587	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	66	37	0	ENST00000316048.2:c.28G>C	p.Glu10Gln	p.E10Q	ENST00000316048	NM_001013698.2	10	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS41759.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTCTGGGT	NONE	.	.	.	.	.	ENSP00000381895	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000316048	Transcript	.	.	ENSG00000179256	34401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.26)	.	SMCO3_HUMAN	SMCO3	HGNC	.	.	UPI00001FB6CD	SNV	SMCO3,missense_variant,p.Glu10Gln,ENST00000316048,;C12orf60,intron_variant,,ENST00000330828,;WBP11,upstream_gene_variant,,ENST00000261167,;WBP11,upstream_gene_variant,,ENST00000535328,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;WBP11,upstream_gene_variant,,ENST00000544764,;WBP11,upstream_gene_variant,,ENST00000543316,;	101	37	87	SUCCESS
CNTN1	1272	.	GRCh37	12	41327519	41327519	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	9	19	0	ENST00000347616.1:c.824G>A	p.Trp275Ter	p.W275*	ENST00000347616		275	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS8737.1	824	MUTECT|MUSE	.	CCGATGGCGGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50835	.	.	ENSP00000447006	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,stop_gained,p.Trp275Ter,ENST00000360099,;CNTN1,stop_gained,p.Trp275Ter,ENST00000551295,;CNTN1,stop_gained,p.Trp275Ter,ENST00000347616,;CNTN1,stop_gained,p.Trp264Ter,ENST00000348761,;CNTN1,stop_gained,p.Trp275Ter,ENST00000547849,;CNTN1,stop_gained,p.Trp275Ter,ENST00000547702,;	941	19	133	SUCCESS
NEUROD4	58158	.	GRCh37	12	55420793	55420793	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	16	0	ENST00000242994.3:c.570T>C	p.Ser190=	p.S190=	ENST00000242994	NM_021191.2	190	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS8886.1	570	RADIA|MUSE|VARSCANS	.	AAATCTCCTAT	NONE	.	.	hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF86,Pfam_domain:PF12533,PIRSF_domain:PIRSF015618	.	.	ENSP00000242994	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242994	Transcript	.	.	ENSG00000123307	13802	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDF4_HUMAN	NEUROD4	HGNC	Q8IW56_HUMAN	.	UPI000013CB1E	SNV	NEUROD4,synonymous_variant,p.%3D,ENST00000242994,;	948	16	40	SUCCESS
TSC22D1	8848	.	GRCh37	13	45010910	45010910	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	16	0	ENST00000458659.2:c.2913-679G>C		p.*971*	ENST00000458659	NM_183422.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31966.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCTTGAT	NONE	.	.	.	.	.	ENSP00000397435	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458659	Transcript	.	.	ENSG00000102804	16826	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T22D1_HUMAN	TSC22D1	HGNC	C9IZ15_HUMAN	.	UPI0000D61A6B	SNV	TSC22D1,5_prime_UTR_variant,,ENST00000261489,;TSC22D1,intron_variant,,ENST00000472477,;TSC22D1,intron_variant,,ENST00000501704,;TSC22D1,intron_variant,,ENST00000458659,;RP11-71C5.2,upstream_gene_variant,,ENST00000426579,;TSC22D1,upstream_gene_variant,,ENST00000487881,;TSC22D1,upstream_gene_variant,,ENST00000496314,;TSC22D1,upstream_gene_variant,,ENST00000496838,;	.	16	14	SUCCESS
SLITRK1	114798	.	GRCh37	13	84454187	84454187	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	199	1	ENST00000377084.2:c.1456C>T	p.Leu486=	p.L486=	ENST00000377084	NM_052910.2	486	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9464.1	1456	RADIA|SOMATICSNIPER|VARSCANS	.	AGGCAGGGACC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,synonymous_variant,p.%3D,ENST00000377084,;	2342	200	115	SUCCESS
UGGT2	55757	.	GRCh37	13	96599294	96599294	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	97	35	0	ENST00000376747.3:c.1674A>G	p.Val558=	p.V558=	ENST00000376747	NM_020121.3	558	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS9480.1	1674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGTACTAT	NONE	.	.	hmmpanther:PTHR11226:SF1,hmmpanther:PTHR11226	.	.	ENSP00000365938	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000376747	Transcript	.	.	ENSG00000102595	15664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UGGG2_HUMAN	UGGT2	HGNC	.	.	UPI00001FC9AA	SNV	UGGT2,synonymous_variant,p.%3D,ENST00000376747,;	1745	35	241	SUCCESS
SEMA6D	80031	.	GRCh37	15	48063289	48063289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	21	0	ENST00000316364.5:c.2529C>A	p.Asn843Lys	p.N843K	ENST00000316364	NM_153618.1	843	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS32225.1	2529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAACTCCAA	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.05)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Asn800Lys,ENST00000389432,;SEMA6D,missense_variant,p.Asn781Lys,ENST00000537942,;SEMA6D,missense_variant,p.Asn781Lys,ENST00000358066,;SEMA6D,missense_variant,p.Asn787Lys,ENST00000354744,;SEMA6D,missense_variant,p.Asn768Lys,ENST00000389428,;SEMA6D,missense_variant,p.Asn843Lys,ENST00000536845,;SEMA6D,missense_variant,p.Asn824Lys,ENST00000389433,;SEMA6D,missense_variant,p.Asn781Lys,ENST00000558014,;SEMA6D,missense_variant,p.Asn843Lys,ENST00000316364,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	2968	21	103	SUCCESS
GNB5	10681	.	GRCh37	15	52476791	52476791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	23	0	ENST00000261837.7:c.83A>T	p.Lys28Met	p.K28M	ENST00000261837	NM_016194.3	28	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS10149.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTTGAAA	NONE	.	.	hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12	.	.	ENSP00000261837	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000261837	Transcript	.	.	ENSG00000069966	4401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.09)	.	GBB5_HUMAN	GNB5	HGNC	H0YLU1_HUMAN	.	UPI000006E214	SNV	GNB5,missense_variant,p.Lys28Met,ENST00000261837,;GNB5,upstream_gene_variant,,ENST00000358784,;GNB5,upstream_gene_variant,,ENST00000560116,;GNB5,upstream_gene_variant,,ENST00000396335,;RP11-430B1.2,intron_variant,,ENST00000559779,;RP11-430B1.2,intron_variant,,ENST00000560518,;GNB5,non_coding_transcript_exon_variant,,ENST00000560075,;GNB5,upstream_gene_variant,,ENST00000561313,;	149	23	73	SUCCESS
DNAJA2	10294	.	GRCh37	16	46991020	46991020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	61	16	0	ENST00000317089.5:c.1160G>T	p.Arg387Met	p.R387M	ENST00000317089	NM_005880.3	387	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS10726.1	1160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCTCTGA	NONE	.	.	HAMAP:MF_01152,hmmpanther:PTHR24076:SF1,hmmpanther:PTHR24076	.	.	ENSP00000314030	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000317089	Transcript	.	.	ENSG00000069345	14884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0.01)	.	DNJA2_HUMAN	DNAJA2	HGNC	H3BMW5_HUMAN	.	UPI0000052A4E	SNV	DNAJA2,missense_variant,p.Arg387Met,ENST00000317089,;DNAJA2,3_prime_UTR_variant,,ENST00000563158,;DNAJA2,downstream_gene_variant,,ENST00000569553,;	1376	16	132	SUCCESS
HYDIN	54768	.	GRCh37	16	71065621	71065621	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	9	0	ENST00000393567.2:c.2729A>G	p.Lys910Arg	p.K910R	ENST00000393567	NM_001270974.1	910	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS59269.1	2729	RADIA|VARSCANS	.	AGGGCTTATCT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	19/86	.	.	.	.	.	.	.	.	.	19/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Lys910Arg,ENST00000448089,;HYDIN,missense_variant,p.Lys910Arg,ENST00000448691,;HYDIN,missense_variant,p.Lys910Arg,ENST00000393567,;HYDIN,missense_variant,p.Lys927Arg,ENST00000541601,;HYDIN,missense_variant,p.Lys937Arg,ENST00000538248,;HYDIN,missense_variant,p.Lys910Arg,ENST00000321489,;HYDIN,missense_variant,p.Lys528Arg,ENST00000393552,;HYDIN,missense_variant,p.Lys95Arg,ENST00000538568,;HYDIN,3_prime_UTR_variant,,ENST00000545230,;HYDIN,3_prime_UTR_variant,,ENST00000539447,;HYDIN,non_coding_transcript_exon_variant,,ENST00000540892,;	2880	9	38	SUCCESS
TVP23B	51030	.	GRCh37	17	18694221	18694221	+	synonymous_variant	Silent	SNP	A	A	G	rs573504806	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	22	35	0	ENST00000307767.8:c.108A>G	p.Ala36=	p.A36=	ENST00000307767	NM_016078.4	36	gcA/gcG	0	.	G:0	.	G:0	.	G	A	protein_coding	YES	CCDS42274.1	108	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCATCGTT	NONE	by1000G	.	hmmpanther:PTHR13019,hmmpanther:PTHR13019:SF9,Pfam_domain:PF05832	G:0	.	ENSP00000305654	G:0	3/7	.	.	.	.	.	.	.	.	rs573504806	3/7	PASS	ENST00000307767	Transcript	.	G:0.0002	ENSG00000171928	20399	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0.001	.	.	TV23B_HUMAN	TVP23B	HGNC	K7ENL4_HUMAN,J3QL63_HUMAN,I3L376_HUMAN	.	UPI00000713C4	SNV	TVP23B,synonymous_variant,p.%3D,ENST00000307767,;TVP23B,synonymous_variant,p.%3D,ENST00000574226,;TVP23B,5_prime_UTR_variant,,ENST00000575261,;TVP23B,5_prime_UTR_variant,,ENST00000581733,;TVP23B,5_prime_UTR_variant,,ENST00000476139,;TVP23B,synonymous_variant,p.%3D,ENST00000574294,;TVP23B,intron_variant,,ENST00000572845,;TVP23B,intron_variant,,ENST00000571018,;TVP23B,upstream_gene_variant,,ENST00000482741,;TVP23B,downstream_gene_variant,,ENST00000582288,;	407	35	195	SUCCESS
TMEM132E	124842	.	GRCh37	17	32956067	32956067	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778414778	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	22	421	0	ENST00000321639.5:c.912C>A	p.Asp304Glu	p.D304E	ENST00000321639	NM_207313.1	304	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS11283.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACTTTGA	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	5/10	.	.	.	.	.	.	.	.	rs778414778	5/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.365)	.	deleterious(0.02)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Asp304Glu,ENST00000321639,;	1240	421	121	SUCCESS
LINC00854	0	.	GRCh37	17	41383337	41383337	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1685415	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	10	0	ENST00000433702.2:n.2G>A		p.*1*	ENST00000433702				0	.	.	.	.	.	T	.	antisense	YES	.	.	RADIA|SOMATICSNIPER|MUSE	.	ATGTTCCCTGG	NONE	byFrequency|byCluster	.	.	.	.	.	.	1/6	.	.	.	.	.	.	.	.	rs1685415	1/6	PASS	ENST00000433702	Transcript	.	.	ENSG00000236383	43658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	LINC00854	HGNC	.	.	.	SNV	LINC00854,non_coding_transcript_exon_variant,,ENST00000433702,;LINC00854,upstream_gene_variant,,ENST00000600764,;LINC00854,upstream_gene_variant,,ENST00000608223,;	2	10	14	SUCCESS
APOH	350	.	GRCh37	17	64222231	64222231	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs55645281	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	71	29	0	ENST00000205948.6:c.253C>T	p.Pro85Ser	p.P85S	ENST00000205948	NM_000042.2	85	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11663.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGACATA	SITE|p.P85S|c.253C>T|3	.	.	Superfamily_domains:SSF57535,Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF46,PROSITE_profiles:PS50923	.	.	ENSP00000205948	.	3/8	.	.	.	.	.	.	.	.	rs55645281,COSM1710658	3/8	PASS	ENST00000205948	Transcript	.	.	ENSG00000091583	616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.991)	.	tolerated(0.08)	0,1	APOH_HUMAN	APOH	HGNC	J3QRN2_HUMAN,J3QLI0_HUMAN,D9IWP9_HUMAN	.	UPI0000125CAA	SNV	APOH,missense_variant,p.Pro25Ser,ENST00000581797,;APOH,missense_variant,p.Pro85Ser,ENST00000205948,;APOH,missense_variant,p.Pro85Ser,ENST00000577982,;	291	29	103	SUCCESS
HELZ	9931	.	GRCh37	17	65214794	65214794	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	31	28	0	ENST00000358691.5:c.127G>T	p.Asp43Tyr	p.D43Y	ENST00000358691	NM_014877.3	43	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42374.1	127	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCTGCCA	NONE	.	.	Gene3D:1.25.40.10	.	.	ENSP00000351524	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.09)	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Asp43Tyr,ENST00000580168,;HELZ,missense_variant,p.Asp43Tyr,ENST00000579861,;HELZ,missense_variant,p.Asp43Tyr,ENST00000358691,;HELZ,missense_variant,p.Asp43Tyr,ENST00000581159,;HELZ,non_coding_transcript_exon_variant,,ENST00000580662,;HELZ,missense_variant,p.Asp43Tyr,ENST00000417253,;HELZ,missense_variant,p.Asp43Tyr,ENST00000579953,;HELZ,non_coding_transcript_exon_variant,,ENST00000580963,;HELZ,non_coding_transcript_exon_variant,,ENST00000584641,;	294	28	160	SUCCESS
GAREM	0	.	GRCh37	18	29867589	29867589	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1238835671	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	275	1	ENST00000269209.6:c.971A>G	p.His324Arg	p.H324R	ENST00000269209		324	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS56057.1	971	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGGACC	NONE	.	.	hmmpanther:PTHR14454:SF6,hmmpanther:PTHR14454,Pfam_domain:PF12736	.	.	ENSP00000269209	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000269209	Transcript	.	.	ENSG00000141441	26136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	GAREM_HUMAN	GAREM	HGNC	.	.	UPI00005A72DA	SNV	GAREM,missense_variant,p.His324Arg,ENST00000399218,;GAREM,missense_variant,p.His324Arg,ENST00000269209,;GAREM,upstream_gene_variant,,ENST00000583696,;RP11-344B2.2,non_coding_transcript_exon_variant,,ENST00000579580,;GAREM,downstream_gene_variant,,ENST00000578619,;	975	276	102	SUCCESS
EPG5	57724	.	GRCh37	18	43435550	43435550	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	26	0	ENST00000282041.5:c.7545C>G	p.Pro2515=	p.P2515=	ENST00000282041	NM_020964.2	2515	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS11926.2	7545	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTGGGGGT	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	43/44	.	.	.	.	.	.	.	.	.	43/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,synonymous_variant,p.%3D,ENST00000282041,;EPG5,synonymous_variant,p.%3D,ENST00000590854,;EPG5,non_coding_transcript_exon_variant,,ENST00000587262,;EPG5,downstream_gene_variant,,ENST00000585906,;EPG5,downstream_gene_variant,,ENST00000587884,;EPG5,downstream_gene_variant,,ENST00000592272,;EPG5,downstream_gene_variant,,ENST00000590884,;	7580	26	68	SUCCESS
SOCS6	9306	.	GRCh37	18	67992585	67992606	+	frameshift_variant	Frame_Shift_Del	DEL	AGATGAGGGGATGTATCCTTTG	AGATGAGGGGATGTATCCTTTG	CA	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	AGATGAGGGGATGTATCCTTTG	AGATGAGGGGATGTATCCTTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	63	81	230	0	ENST00000397942.3:c.681_702delinsCA	p.Leu227PhefsTer33	p.L227Ffs*33	ENST00000397942	NM_004232.3	227	ttAGATGAGGGGATGTATCCTTTG/ttCA	0	.	.	.	.	.	CA	LDEGMYPL/FX	protein_coding	YES	CCDS11998.1	681-702	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTTTAGATGAGGGGATGTATCCTTTGGAAGG	NONE	.	.	hmmpanther:PTHR10385:SF25,hmmpanther:PTHR10385	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	substitution	SOCS6,frameshift_variant,p.Leu227PhefsTer33,ENST00000397942,;SOCS6,frameshift_variant,p.Leu227PhefsTer33,ENST00000582322,;SOCS6,coding_sequence_variant,,ENST00000578377,;	997-1018	230	144	SUCCESS
SOCS6	9306	.	GRCh37	18	67992606	67992606	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	232	1	ENST00000397942.3:c.702G>A	p.Leu234=	p.L234=	ENST00000397942	NM_004232.3	234	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11998.1	702	SOMATICSNIPER|VARSCANS	.	CCTTTGGAAGG	NONE	.	.	hmmpanther:PTHR10385:SF25,hmmpanther:PTHR10385	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,synonymous_variant,p.%3D,ENST00000397942,;SOCS6,synonymous_variant,p.%3D,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	1018	233	109	SUCCESS
GRIN3B	116444	.	GRCh37	19	1004576	1004576	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778317218	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	194	0	ENST00000234389.3:c.1076G>A	p.Ser359Asn	p.S359N	ENST00000234389	NM_138690.1	359	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS32861.1	1076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGCTCCC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Superfamily_domains:SSF53822	.	.	ENSP00000234389	.	3/9	.	.	.	.	.	.	.	.	rs778317218	3/9	PASS	ENST00000234389	Transcript	.	.	ENSG00000116032	16768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.28)	.	NMD3B_HUMAN	GRIN3B	HGNC	.	.	UPI000004064B	SNV	GRIN3B,missense_variant,p.Ser359Asn,ENST00000234389,;AC004528.1,downstream_gene_variant,,ENST00000594393,;AC004528.4,upstream_gene_variant,,ENST00000588380,;GRIN3B,non_coding_transcript_exon_variant,,ENST00000588335,;	1095	194	39	SUCCESS
SMIM7	79086	.	GRCh37	19	16770916	16770916	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	T	rs11555682	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	280	0	ENST00000481671.2:c.6C>A	p.Ile2=	p.I2=	ENST00000481671		2	atC/atA	0	A:0	A:0	.	A:0	.	T	I	protein_coding	YES	CCDS12348.2	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGATCAT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0004	ENSP00000417147	A:0.002	1/5	.	.	.	.	.	.	.	.	rs11555682,COSM4154076	1/5	PASS	ENST00000487416	Transcript	.	A:0.0004	ENSG00000214046	28419	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	SMIM7_HUMAN	SMIM7	HGNC	M0R2G5_HUMAN,M0R0R3_HUMAN	.	UPI000004A094	SNV	SMIM7,synonymous_variant,p.%3D,ENST00000487416,;SMIM7,synonymous_variant,p.%3D,ENST00000358726,;SMIM7,synonymous_variant,p.%3D,ENST00000597711,;CTC-429P9.4,upstream_gene_variant,,ENST00000593459,;TMEM38A,upstream_gene_variant,,ENST00000599479,;TMEM38A,upstream_gene_variant,,ENST00000187762,;SMIM7,non_coding_transcript_exon_variant,,ENST00000461364,;SMIM7,non_coding_transcript_exon_variant,,ENST00000594507,;SMIM7,upstream_gene_variant,,ENST00000397349,;CTC-429P9.4,upstream_gene_variant,,ENST00000593962,;SMIM7,synonymous_variant,p.%3D,ENST00000481671,;SMIM7,synonymous_variant,p.%3D,ENST00000593404,;SMIM7,synonymous_variant,p.%3D,ENST00000599310,;SMIM7,synonymous_variant,p.%3D,ENST00000602194,;CTC-429P9.4,synonymous_variant,p.%3D,ENST00000600705,;SMIM7,synonymous_variant,p.%3D,ENST00000597781,;SMIM7,synonymous_variant,p.%3D,ENST00000593409,;SMIM7,synonymous_variant,p.%3D,ENST00000598278,;CTC-429P9.4,synonymous_variant,p.%3D,ENST00000595505,;SMIM7,synonymous_variant,p.%3D,ENST00000487803,;SMIM7,synonymous_variant,p.%3D,ENST00000461488,;SMIM7,synonymous_variant,p.%3D,ENST00000465250,;SMIM7,synonymous_variant,p.%3D,ENST00000463051,;CTC-429P9.4,upstream_gene_variant,,ENST00000601636,;CTC-429P9.4,upstream_gene_variant,,ENST00000593991,;SMIM7,upstream_gene_variant,,ENST00000600740,;TMEM38A,upstream_gene_variant,,ENST00000595452,;SMIM7,upstream_gene_variant,,ENST00000594662,;CTC-429P9.4,upstream_gene_variant,,ENST00000594509,;	53	280	48	SUCCESS
SMIM7	79086	.	GRCh37	19	16770917	16770917	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	277	0	ENST00000481671.2:c.5T>A	p.Ile2Asn	p.I2N	ENST00000481671		2	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS12348.2	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGATCATC	NONE	.	.	.	.	.	ENSP00000417147	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000487416	Transcript	.	.	ENSG00000214046	28419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious(0)	.	SMIM7_HUMAN	SMIM7	HGNC	M0R2G5_HUMAN,M0R0R3_HUMAN	.	UPI000004A094	SNV	SMIM7,missense_variant,p.Ile2Asn,ENST00000487416,;SMIM7,missense_variant,p.Ile2Asn,ENST00000358726,;SMIM7,missense_variant,p.Ile2Asn,ENST00000597711,;CTC-429P9.4,upstream_gene_variant,,ENST00000593459,;TMEM38A,upstream_gene_variant,,ENST00000599479,;TMEM38A,upstream_gene_variant,,ENST00000187762,;SMIM7,non_coding_transcript_exon_variant,,ENST00000461364,;SMIM7,non_coding_transcript_exon_variant,,ENST00000594507,;SMIM7,upstream_gene_variant,,ENST00000397349,;CTC-429P9.4,upstream_gene_variant,,ENST00000593962,;SMIM7,missense_variant,p.Ile2Asn,ENST00000481671,;SMIM7,missense_variant,p.Ile2Asn,ENST00000593404,;SMIM7,missense_variant,p.Ile2Asn,ENST00000599310,;SMIM7,missense_variant,p.Ile2Asn,ENST00000602194,;CTC-429P9.4,missense_variant,p.Ile2Asn,ENST00000600705,;SMIM7,missense_variant,p.Ile2Asn,ENST00000597781,;SMIM7,missense_variant,p.Ile2Asn,ENST00000593409,;SMIM7,missense_variant,p.Ile2Asn,ENST00000598278,;CTC-429P9.4,missense_variant,p.Ile2Asn,ENST00000595505,;SMIM7,missense_variant,p.Ile2Asn,ENST00000487803,;SMIM7,missense_variant,p.Ile2Asn,ENST00000461488,;SMIM7,missense_variant,p.Ile2Asn,ENST00000465250,;SMIM7,missense_variant,p.Ile2Asn,ENST00000463051,;CTC-429P9.4,upstream_gene_variant,,ENST00000601636,;CTC-429P9.4,upstream_gene_variant,,ENST00000593991,;SMIM7,upstream_gene_variant,,ENST00000600740,;TMEM38A,upstream_gene_variant,,ENST00000595452,;SMIM7,upstream_gene_variant,,ENST00000594662,;CTC-429P9.4,upstream_gene_variant,,ENST00000594509,;	52	277	48	SUCCESS
GMIP	51291	.	GRCh37	19	19744903	19744903	+	synonymous_variant	Silent	SNP	T	T	C	rs376288223	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	151	0	ENST00000203556.4:c.2181A>G	p.Ala727=	p.A727=	ENST00000203556	NM_016573.2	727	gcA/gcG	0	A:0	.	.	.	.	C	A	protein_coding	YES	CCDS12408.1	2181	RADIA|VARSCANS	.	CTGGCTGCCCG	NONE	byCluster	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	A:0.0001	ENSP00000203556	.	19/21	.	.	.	.	.	.	.	.	rs376288223	19/21	PASS	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,synonymous_variant,p.%3D,ENST00000587238,;GMIP,synonymous_variant,p.%3D,ENST00000203556,;GMIP,synonymous_variant,p.%3D,ENST00000445806,;GMIP,downstream_gene_variant,,ENST00000593186,;GMIP,downstream_gene_variant,,ENST00000586269,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000591047,;	2319	151	24	SUCCESS
LILRB5	10990	.	GRCh37	19	54760149	54760149	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1173357717	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	92	0	ENST00000449561.2:c.412G>A	p.Gly138Arg	p.G138R	ENST00000449561		138	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46176.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCTCCTG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000406478	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	tolerated(0.09)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Gly129Arg,ENST00000450632,;LILRB5,missense_variant,p.Gly138Arg,ENST00000449561,;LILRB5,missense_variant,p.Gly138Arg,ENST00000316219,;LILRB5,intron_variant,,ENST00000345866,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,intron_variant,,ENST00000463460,;	483	93	32	SUCCESS
PALMD	54873	.	GRCh37	1	100111832	100111832	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs777088503	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	83	0	ENST00000263174.4:c.-42C>A		p.*14*	ENST00000263174	NM_017734.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS758.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCTTTGG	NONE	.	.	.	.	.	ENSP00000263174	.	1/8	.	.	.	.	.	.	.	.	rs777088503	1/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,5_prime_UTR_variant,,ENST00000605497,;PALMD,5_prime_UTR_variant,,ENST00000263174,;	334	83	108	SUCCESS
RABGAP1L	9910	.	GRCh37	1	174517120	174517120	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	241	65	51	0	ENST00000251507.4:c.1711-89393G>T		p.*571*	ENST00000251507	NM_014857.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1314.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGTTCCT	NONE	.	.	.	.	.	ENSP00000251507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251507	Transcript	.	.	ENSG00000152061	24663	.	.	MODIFIER	13/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBG1L_HUMAN	RABGAP1L	HGNC	F1LJ00_HUMAN	.	UPI0000458A9F	SNV	RABGAP1L,missense_variant,p.Ser582Ile,ENST00000357444,;RABGAP1L,intron_variant,,ENST00000251507,;RABGAP1L,downstream_gene_variant,,ENST00000367689,;RABGAP1L,intron_variant,,ENST00000526253,;RABGAP1L,downstream_gene_variant,,ENST00000367690,;	.	51	307	SUCCESS
KCNH1	3756	.	GRCh37	1	211093326	211093326	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	30	456	1	ENST00000271751.4:c.1118A>G	p.Glu373Gly	p.E373G	ENST00000271751		373	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS1496.1	1118	MUSE|VARSCANS	.	CATATTCAATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000271751	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Glu346Gly,ENST00000367007,;KCNH1,missense_variant,p.Glu373Gly,ENST00000271751,;	1146	457	146	SUCCESS
DISC1	27185	.	GRCh37	1	231830097	231830097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	410	0	ENST00000439617.2:c.593C>A	p.Thr198Asn	p.T198N	ENST00000439617	NM_001164540.1	198	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS53482.1	593	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAACCCCTC	NONE	.	.	hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332,Low_complexity_(Seg):seg	.	.	ENSP00000355593	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.385)	.	tolerated(0.16)	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,missense_variant,p.Thr198Asn,ENST00000539444,;DISC1,missense_variant,p.Thr198Asn,ENST00000439617,;DISC1,missense_variant,p.Thr198Asn,ENST00000317586,;DISC1,missense_variant,p.Thr198Asn,ENST00000535983,;DISC1,missense_variant,p.Thr198Asn,ENST00000602281,;DISC1,missense_variant,p.Thr198Asn,ENST00000366633,;DISC1,missense_variant,p.Thr198Asn,ENST00000366636,;DISC1,missense_variant,p.Thr198Asn,ENST00000537876,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,intron_variant,,ENST00000602873,;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,missense_variant,p.Thr198Asn,ENST00000295051,;DISC1,missense_variant,p.Thr198Asn,ENST00000602822,;DISC1,missense_variant,p.Thr198Asn,ENST00000366632,;DISC1,missense_variant,p.Thr198Asn,ENST00000602713,;DISC1,missense_variant,p.Thr198Asn,ENST00000602700,;DISC1,missense_variant,p.Thr198Asn,ENST00000535944,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	646	410	102	SUCCESS
WASF2	10163	.	GRCh37	1	27739169	27739169	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1246146048	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	81	44	0	ENST00000430629.2:c.721G>A	p.Val241Met	p.V241M	ENST00000430629	NM_006990.3	241	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS304.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACGTTTT	NONE	.	.	hmmpanther:PTHR12902:SF6,hmmpanther:PTHR12902	.	.	ENSP00000396211	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000430629	Transcript	.	.	ENSG00000158195	12733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.39)	.	WASF2_HUMAN	WASF2	HGNC	Q8NBU0_HUMAN,B4E3J5_HUMAN	.	UPI0000000D74	SNV	WASF2,missense_variant,p.Val241Met,ENST00000430629,;WASF2,missense_variant,p.Val241Met,ENST00000536657,;	937	44	210	SUCCESS
EBNA1BP2	10969	.	GRCh37	1	43637633	43637633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	175	0	ENST00000236051.2:c.74A>G	p.Asp25Gly	p.D25G	ENST00000236051	NM_006824.2	25	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS53308.1	239	RADIA|VARSCANS	.	ACGCATCCTGC	NONE	.	.	hmmpanther:PTHR13028,hmmpanther:PTHR13028:SF0,Pfam_domain:PF05890	.	.	ENSP00000407323	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000431635	Transcript	.	.	ENSG00000117395	15531	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.138)	.	deleterious(0.04)	.	.	EBNA1BP2	HGNC	Q6IB29_HUMAN,H7C2Q8_HUMAN	.	UPI0000204E6D	SNV	EBNA1BP2,missense_variant,p.Asp25Gly,ENST00000236051,;EBNA1BP2,missense_variant,p.Asp80Gly,ENST00000431635,;WDR65,upstream_gene_variant,,ENST00000529956,;WDR65,upstream_gene_variant,,ENST00000528956,;WDR65,upstream_gene_variant,,ENST00000372492,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000483082,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000461557,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000491223,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000472982,;EBNA1BP2,upstream_gene_variant,,ENST00000463906,;WDR65,upstream_gene_variant,,ENST00000533339,;WDR65,upstream_gene_variant,,ENST00000525227,;	388	175	35	SUCCESS
PTPRF	5792	.	GRCh37	1	44069357	44069357	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	158	0	ENST00000359947.4:c.2534A>G	p.Glu845Gly	p.E845G	ENST00000359947	NM_002840.3	845	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS489.2	2534	RADIA|VARSCANS	.	CAAGGAACTGC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19134:SF203,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	.	ENSP00000353030	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000359947	Transcript	.	.	ENSG00000142949	9670	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.861)	.	tolerated(0.15)	.	PTPRF_HUMAN	PTPRF	HGNC	G1UI20_HUMAN	.	UPI0000470154	SNV	PTPRF,missense_variant,p.Glu259Gly,ENST00000414879,;PTPRF,missense_variant,p.Glu836Gly,ENST00000438120,;PTPRF,missense_variant,p.Glu845Gly,ENST00000359947,;PTPRF,missense_variant,p.Glu491Gly,ENST00000429895,;PTPRF,missense_variant,p.Glu836Gly,ENST00000372413,;PTPRF,missense_variant,p.Glu193Gly,ENST00000422171,;PTPRF,missense_variant,p.Glu845Gly,ENST00000372414,;PTPRF,intron_variant,,ENST00000372407,;PTPRF,intron_variant,,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,upstream_gene_variant,,ENST00000463041,;	2874	158	39	SUCCESS
PDE4B	5142	.	GRCh37	1	66723358	66723358	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	146	48	0	ENST00000329654.4:c.505T>G	p.Phe169Val	p.F169V	ENST00000329654	NM_001037341.1	169	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS632.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTTTGCC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF90	.	.	ENSP00000332116	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000329654	Transcript	.	.	ENSG00000184588	8781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0)	.	PDE4B_HUMAN	PDE4B	HGNC	E9PR34_HUMAN,E9PNB0_HUMAN,E9PJ03_HUMAN	.	UPI0000127BF6	SNV	PDE4B,missense_variant,p.Phe169Val,ENST00000341517,;PDE4B,missense_variant,p.Phe169Val,ENST00000371049,;PDE4B,missense_variant,p.Phe169Val,ENST00000329654,;PDE4B,missense_variant,p.Phe77Val,ENST00000412480,;PDE4B,missense_variant,p.Phe154Val,ENST00000423207,;PDE4B,missense_variant,p.Phe11Val,ENST00000491340,;PDE4B,non_coding_transcript_exon_variant,,ENST00000371048,;PDE4B,non_coding_transcript_exon_variant,,ENST00000490695,;	692	48	226	SUCCESS
ZNF326	284695	.	GRCh37	1	90487903	90487903	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	283	67	64	0	ENST00000340281.4:c.1400A>C	p.Lys467Thr	p.K467T	ENST00000340281	NM_182976.2	467	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS727.1	1400	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAAGGTAA	NONE	.	.	hmmpanther:PTHR12190:SF1,hmmpanther:PTHR12190,Pfam_domain:PF04988	.	.	ENSP00000340796	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000340281	Transcript	.	.	ENSG00000162664	14104	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.478)	.	deleterious(0)	.	ZN326_HUMAN	ZNF326	HGNC	.	.	UPI0000160AB2	SNV	ZNF326,missense_variant,p.Lys261Thr,ENST00000455342,;ZNF326,missense_variant,p.Lys378Thr,ENST00000370447,;ZNF326,missense_variant,p.Lys467Thr,ENST00000340281,;ZNF326,splice_region_variant,,ENST00000394583,;	1543	64	350	SUCCESS
C21orf59	0	.	GRCh37	21	33974647	33974647	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs370327238	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	81	1	ENST00000290155.3:c.697A>G	p.Ile233Val	p.I233V	ENST00000290155	NM_021254.2	233	Att/Gtt	0	C:0.0002	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATAGGCT	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000446874	.	.	.	.	.	.	.	.	.	.	rs370327238	.	PASS	ENST00000553001	Transcript	.	.	ENSG00000265590	.	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AP000275.65	Clone_based_vega_gene	F8VZ95_HUMAN	.	UPI0000E5A3A4	SNV	AP000275.65,missense_variant,p.Ile201Val,ENST00000431216,;C21orf59,missense_variant,p.Ile233Val,ENST00000290155,;C21orf59,missense_variant,p.Ile81Val,ENST00000425336,;C21orf59,3_prime_UTR_variant,,ENST00000382549,;AP000275.65,intron_variant,,ENST00000553001,;C21orf59,intron_variant,,ENST00000440966,;C21orf59,intron_variant,,ENST00000431599,;C21orf59,downstream_gene_variant,,ENST00000540881,;C21orf59,downstream_gene_variant,,ENST00000458138,;C21orf59,3_prime_UTR_variant,,ENST00000300260,;C21orf59,non_coding_transcript_exon_variant,,ENST00000483315,;	.	82	60	SUCCESS
RGL4	266747	.	GRCh37	22	24037416	24037416	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	40	0	ENST00000290691.5:c.1086+210C>T		p.*362*	ENST00000290691	NM_153615.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13811.1	.	RADIA|MUTECT|MUSE	.	GGGGGCAGGAG	NONE	.	.	.	.	.	ENSP00000290691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290691	Transcript	.	.	ENSG00000159496	31911	.	.	MODIFIER	6/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGDSR_HUMAN	RGL4	HGNC	B5MCW5_HUMAN	.	UPI00000740FE	SNV	RGL4,intron_variant,,ENST00000290691,;RGL4,intron_variant,,ENST00000423392,;RGL4,intron_variant,,ENST00000401461,;RGL4,upstream_gene_variant,,ENST00000452208,;KB-1572G7.2,non_coding_transcript_exon_variant,,ENST00000421064,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000422506,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000445682,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000451837,;GUSBP11,intron_variant,,ENST00000452737,;AP000347.2,upstream_gene_variant,,ENST00000458554,;KB-1572G7.2,upstream_gene_variant,,ENST00000423913,;AP000347.2,upstream_gene_variant,,ENST00000417194,;RGL4,upstream_gene_variant,,ENST00000460167,;GUSBP11,upstream_gene_variant,,ENST00000455485,;AP000347.2,upstream_gene_variant,,ENST00000438858,;GUSBP11,upstream_gene_variant,,ENST00000608454,;RGL4,intron_variant,,ENST00000460003,;RGL4,intron_variant,,ENST00000441897,;RGL4,intron_variant,,ENST00000467354,;AP000347.2,intron_variant,,ENST00000435868,;	.	40	11	SUCCESS
LARGE	0	.	GRCh37	22	33960897	33960897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	43	12	0	ENST00000354992.2:c.724G>A	p.Asp242Asn	p.D242N	ENST00000354992	NM_004737.4	242	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13912.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTCAAGGA	NONE	.	.	hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF18,Pfam_domain:PF01501,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000347088	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000354992	Transcript	.	.	ENSG00000133424	6511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	LARGE_HUMAN	LARGE	HGNC	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN	.	UPI000012E200	SNV	LARGE,missense_variant,p.Asp41Asn,ENST00000452586,;LARGE,missense_variant,p.Asp242Asn,ENST00000354992,;LARGE,missense_variant,p.Asp41Asn,ENST00000421768,;LARGE,missense_variant,p.Asp242Asn,ENST00000437602,;LARGE,missense_variant,p.Asp242Asn,ENST00000337431,;LARGE,missense_variant,p.Asp242Asn,ENST00000402320,;LARGE,missense_variant,p.Asp242Asn,ENST00000397394,;LARGE,non_coding_transcript_exon_variant,,ENST00000476315,;	1296	12	113	SUCCESS
CYB5R3	1727	.	GRCh37	22	43024254	43024254	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs367914897	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	198	0	ENST00000352397.5:c.367G>A	p.Ala123Thr	p.A123T	ENST00000352397	NM_000398.6	123	Gct/Act	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS54535.1	466	RADIA|MUSE|VARSCANS	.	TCCAGCGGGAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51384,hmmpanther:PTHR19370:SF80,hmmpanther:PTHR19370,Pfam_domain:PF00970,Gene3D:2.40.30.10,Superfamily_domains:SSF63380	.	T:0.0002	ENSP00000354468	.	5/9	.	.	.	.	.	.	.	.	rs367914897	5/9	PASS	ENST00000361740	Transcript	.	.	ENSG00000100243	2873	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.1)	.	NB5R3_HUMAN	CYB5R3	HGNC	B1AHF3_HUMAN	.	UPI00019150F6	SNV	CYB5R3,missense_variant,p.Ala100Thr,ENST00000407623,;CYB5R3,missense_variant,p.Ala100Thr,ENST00000396303,;CYB5R3,missense_variant,p.Ala156Thr,ENST00000361740,;CYB5R3,missense_variant,p.Ala123Thr,ENST00000352397,;CYB5R3,missense_variant,p.Ala100Thr,ENST00000402438,;CYB5R3,missense_variant,p.Ala100Thr,ENST00000438270,;CYB5R3,missense_variant,p.Ala100Thr,ENST00000407332,;CYB5R3,non_coding_transcript_exon_variant,,ENST00000470741,;CYB5R3,downstream_gene_variant,,ENST00000466276,;	466	198	73	SUCCESS
TTN	7273	.	GRCh37	2	179559565	179559565	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	114	47	0	ENST00000591111.1:c.30388G>C	p.Val10130Leu	p.V10130L	ENST00000591111		10130	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS59435.1	31339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACTTGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	116/363	.	.	.	.	.	.	.	.	.	116/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val325Leu,ENST00000414766,;TTN,missense_variant,p.Val9203Leu,ENST00000342992,;TTN,missense_variant,p.Val10447Leu,ENST00000589042,;TTN,missense_variant,p.Val10130Leu,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31564	47	308	SUCCESS
CGREF1	10669	.	GRCh37	2	27325451	27325451	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	134	0	ENST00000260595.5:c.89C>A	p.Ser30Tyr	p.S30Y	ENST00000260595		30	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS33162.2	89	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGAGTCT	NONE	.	.	hmmpanther:PTHR23104:SF3,hmmpanther:PTHR23104	.	.	ENSP00000385452	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000402394	Transcript	.	.	ENSG00000138028	16962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.706)	.	deleterious(0.01)	.	CGRE1_HUMAN	CGREF1	HGNC	.	.	UPI000013D0EB	SNV	CGREF1,missense_variant,p.Ser30Tyr,ENST00000405600,;CGREF1,missense_variant,p.Ser30Tyr,ENST00000402550,;CGREF1,missense_variant,p.Ser30Tyr,ENST00000260595,;CGREF1,missense_variant,p.Ser152Tyr,ENST00000404694,;CGREF1,missense_variant,p.Ser30Tyr,ENST00000312734,;CGREF1,missense_variant,p.Ser30Tyr,ENST00000402394,;CGREF1,5_prime_UTR_variant,,ENST00000452318,;KHK,downstream_gene_variant,,ENST00000260599,;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000260598,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,missense_variant,p.Ser30Tyr,ENST00000440612,;CGREF1,non_coding_transcript_exon_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000464371,;	358	134	43	SUCCESS
SIX2	10736	.	GRCh37	2	45233509	45233509	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	104	0	ENST00000303077.6:c.676T>A	p.Ser226Thr	p.S226T	ENST00000303077	NM_016932.4	226	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS1822.1	676	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGATGATGAGT	NONE	.	.	hmmpanther:PTHR10390:SF29,hmmpanther:PTHR10390,Low_complexity_(Seg):seg	.	.	ENSP00000304502	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303077	Transcript	.	.	ENSG00000170577	10888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.155)	.	tolerated(0.06)	.	SIX2_HUMAN	SIX2	HGNC	.	.	UPI00001359C0	SNV	SIX2,missense_variant,p.Ser226Thr,ENST00000303077,;	996	104	14	SUCCESS
STON1-GTF2A1L	286749	.	GRCh37	2	48809395	48809395	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	224	40	52	0	ENST00000394754.1:c.1623G>A	p.Val541=	p.V541=	ENST00000394754	NM_172311.2	541	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1840.1	1623	RADIA|MUTECT|MUSE|VARSCANS	.	TACGTGGAACT	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,Gene3D:2.60.40.1170,Pfam_domain:PF00928,Superfamily_domains:0038852	.	.	ENSP00000378236	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000394754	Transcript	.	.	ENSG00000068781	30651	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	STON1-GTF2A1L	HGNC	Q53S48_HUMAN	.	UPI000013C976	SNV	STON1-GTF2A1L,synonymous_variant,p.%3D,ENST00000309827,;STON1-GTF2A1L,synonymous_variant,p.%3D,ENST00000394754,;STON1,synonymous_variant,p.%3D,ENST00000406226,;STON1-GTF2A1L,synonymous_variant,p.%3D,ENST00000402114,;STON1-GTF2A1L,synonymous_variant,p.%3D,ENST00000405008,;STON1-GTF2A1L,synonymous_variant,p.%3D,ENST00000394751,;STON1,synonymous_variant,p.%3D,ENST00000404752,;STON1,synonymous_variant,p.%3D,ENST00000309835,;STON1,upstream_gene_variant,,ENST00000444932,;	1737	52	265	SUCCESS
PLCXD2	257068	.	GRCh37	3	111393914	111393914	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	34	0	ENST00000477665.1:c.-179G>A		p.*60*	ENST00000477665	NM_001185106.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54619.1	.	RADIA|MUTECT|MUSE	.	AGAGTGGGGAC	NONE	.	.	.	.	.	ENSP00000420686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,5_prime_UTR_variant,,ENST00000477665,;PLCXD2,5_prime_UTR_variant,,ENST00000393934,;PLCXD2-AS1,downstream_gene_variant,,ENST00000493131,;	146	34	11	SUCCESS
KALRN	8997	.	GRCh37	3	124165646	124165646	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	11	0	ENST00000240874.3:c.3460C>G	p.Leu1154Val	p.L1154V	ENST00000240874	NM_003947.4	1154	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3027.1	3460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCTCTCA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000240874	.	21/34	.	.	.	.	.	.	.	.	.	21/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	deleterious(0.02)	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,missense_variant,p.Leu1154Val,ENST00000240874,;KALRN,missense_variant,p.Leu1145Val,ENST00000460856,;KALRN,missense_variant,p.Leu1123Val,ENST00000354186,;KALRN,missense_variant,p.Leu1154Val,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;	3617	11	73	SUCCESS
OSBPL11	114885	.	GRCh37	3	125313601	125313605	+	frameshift_variant	Frame_Shift_Del	DEL	CTCTC	CTCTC	-	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	CTCTC	CTCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	115	30	372	0	ENST00000296220.5:c.40_44del	p.Glu14ArgfsTer25	p.E14Rfs*25	ENST00000296220	NM_022776.4	14	GAGAGc/c	0	.	.	.	.	.	-	ES/X	protein_coding	YES	CCDS3033.1	40-44	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTCGCTCTCCGAGA	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF46	.	.	ENSP00000296220	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000296220	Transcript	.	.	ENSG00000144909	16397	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OSB11_HUMAN	OSBPL11	HGNC	Q9GZM0_HUMAN	.	UPI0000130E9C	deletion	OSBPL11,frameshift_variant,p.Glu14ArgfsTer25,ENST00000296220,;	330-334	372	145	SUCCESS
RAB7A	7879	.	GRCh37	3	128516808	128516808	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	28	26	0	ENST00000265062.3:c.76A>G	p.Asn26Asp	p.N26D	ENST00000265062	NM_004637.5	26	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3052.1	76	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGAACCAG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24073:SF320,hmmpanther:PTHR24073,PROSITE_profiles:PS51419	.	.	ENSP00000265062	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000265062	Transcript	.	.	ENSG00000075785	9788	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.129)	.	deleterious(0.02)	.	RAB7A_HUMAN	RAB7A	HGNC	C9J592_HUMAN	.	UPI0000001260	SNV	RAB7A,missense_variant,p.Asn26Asp,ENST00000483906,;RAB7A,missense_variant,p.Asn26Asp,ENST00000490093,;RAB7A,missense_variant,p.Asn26Asp,ENST00000493186,;RAB7A,missense_variant,p.Asn26Asp,ENST00000482525,;RAB7A,missense_variant,p.Asn26Asp,ENST00000464496,;RAB7A,missense_variant,p.Asn26Asp,ENST00000265062,;RAB7A,missense_variant,p.Asn26Asp,ENST00000485280,;RAB7A,non_coding_transcript_exon_variant,,ENST00000491681,;RPS15AP16,downstream_gene_variant,,ENST00000472521,;	322	26	186	SUCCESS
CPB1	1360	.	GRCh37	3	148559613	148559613	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761204342	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	88	32	0	ENST00000282957.4:c.478G>A	p.Gly160Ser	p.G160S	ENST00000282957	NM_001871.2	160	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS33874.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTGGCAAA	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000417222	.	7/12	.	.	.	.	.	.	.	.	rs761204342	7/12	PASS	ENST00000491148	Transcript	.	.	ENSG00000153002	2299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.14)	.	CBPB1_HUMAN	CPB1	HGNC	Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN	.	UPI00001271CD	SNV	CPB1,missense_variant,p.Gly126Ser,ENST00000468341,;CPB1,missense_variant,p.Gly160Ser,ENST00000282957,;CPB1,missense_variant,p.Gly160Ser,ENST00000491148,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	812	32	201	SUCCESS
TP63	8626	.	GRCh37	3	189349323	189349323	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376627647	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	15	0	ENST00000264731.3:c.19C>T	p.Arg7Trp	p.R7W	ENST00000264731	NM_003722.4	7	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS3293.1	19	MUTECT|MUSE	.	CTTCACGGTGT	NONE	byCluster	.	.	.	T:0	ENSP00000264731	.	1/14	.	.	.	.	.	.	.	.	rs376627647	1/14	PASS	ENST00000264731	Transcript	.	.	ENSG00000073282	15979	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	deleterious_low_confidence(0.04)	.	P63_HUMAN	TP63	HGNC	.	.	UPI0000073CF2	SNV	TP63,missense_variant,p.Arg7Trp,ENST00000440651,;TP63,missense_variant,p.Arg7Trp,ENST00000320472,;TP63,missense_variant,p.Arg7Trp,ENST00000264731,;TP63,missense_variant,p.Arg7Trp,ENST00000418709,;TP63,missense_variant,p.Arg7Trp,ENST00000382063,;TP63,missense_variant,p.Arg7Trp,ENST00000392460,;TP63,non_coding_transcript_exon_variant,,ENST00000486398,;	108	15	103	SUCCESS
ATP13A5	344905	.	GRCh37	3	193061790	193061790	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	86	37	0	ENST00000342358.4:c.869C>T	p.Pro290Leu	p.P290L	ENST00000342358	NM_198505.2	290	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33914.1	869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGGAAGA	NONE	.	.	Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093	.	.	ENSP00000341942	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.456)	.	deleterious(0.01)	.	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,missense_variant,p.Pro290Leu,ENST00000342358,;	987	38	190	SUCCESS
SDHAP1	255812	.	GRCh37	3	195704091	195704091	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	64	117	0	ENST00000427841.1:n.1054A>C		p.*352*	ENST00000427841				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTTCCGT	NONE	.	.	.	.	.	.	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000427841	Transcript	.	.	ENSG00000185485	32455	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SDHAP1	HGNC	.	.	.	SNV	SDHAP1,non_coding_transcript_exon_variant,,ENST00000427841,;SDHAP1,downstream_gene_variant,,ENST00000413474,;SDHAP1,upstream_gene_variant,,ENST00000457601,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000440850,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000538515,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000354937,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000545003,;	1054	117	179	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	81	13	0	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2694.1	1004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAAAACTAC	SITE|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	13	161	SUCCESS
CACNA1D	776	.	GRCh37	3	53707151	53707151	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1425686360	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	456	455	126	0	ENST00000350061.5:c.1218C>T		p.X406_splice	ENST00000350061	NM_001128840.2	406	agC/agT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2872.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCGGGTA	NONE	.	.	.	.	.	ENSP00000288139	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	MODIFIER	7/48	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,synonymous_variant,p.%3D,ENST00000422281,;CACNA1D,synonymous_variant,p.%3D,ENST00000350061,;CACNA1D,synonymous_variant,p.%3D,ENST00000481478,;CACNA1D,intron_variant,,ENST00000481085,;CACNA1D,intron_variant,,ENST00000288139,;CACNA1D,splice_region_variant,,ENST00000498251,;CACNA1D,intron_variant,,ENST00000464429,;	.	126	911	SUCCESS
DENND6A	201627	.	GRCh37	3	57646514	57646514	+	synonymous_variant	Silent	SNP	G	G	A	rs776676984	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	147	95	0	ENST00000311128.5:c.672C>T	p.His224=	p.H224=	ENST00000311128	NM_152678.2	224	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS33773.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGTGTAA	NONE	.	.	hmmpanther:PTHR13677:SF1,hmmpanther:PTHR13677	.	.	ENSP00000311401	.	7/20	.	.	.	.	.	.	.	.	rs776676984	7/20	PASS	ENST00000311128	Transcript	.	.	ENSG00000174839	26635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN6A_HUMAN	DENND6A	HGNC	.	.	UPI00000744F6	SNV	DENND6A,synonymous_variant,p.%3D,ENST00000477344,;DENND6A,synonymous_variant,p.%3D,ENST00000311128,;DENND6A,non_coding_transcript_exon_variant,,ENST00000487662,;	743	95	348	SUCCESS
CADM2	253559	.	GRCh37	3	86114753	86114753	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	105	43	0	ENST00000407528.2:c.1064-2A>G		p.X355_splice	ENST00000407528	NM_001167674.1	355		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33792.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGATCC	NONE	.	.	.	.	.	ENSP00000384193	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,splice_acceptor_variant,,ENST00000407528,;CADM2,splice_acceptor_variant,,ENST00000383699,;CADM2,splice_acceptor_variant,,ENST00000405615,;	.	43	237	SUCCESS
PPP2R2C	5522	.	GRCh37	4	6335429	6335429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1401064445	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	404	0	ENST00000382599.4:c.820C>T	p.Arg274Cys	p.R274C	ENST00000382599		274	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3388.1	820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGTTAC	NONE	.	.	hmmpanther:PTHR11871:SF5,hmmpanther:PTHR11871,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037309,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00600	.	.	ENSP00000335083	.	7/9	.	.	.	.	.	.	.	.	COSM340706	7/9	PASS	ENST00000335585	Transcript	.	.	ENSG00000074211	9306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.687)	.	deleterious(0.02)	1	2ABG_HUMAN	PPP2R2C	HGNC	.	.	UPI0000140CE7	SNV	PPP2R2C,missense_variant,p.Arg274Cys,ENST00000382599,;PPP2R2C,missense_variant,p.Arg257Cys,ENST00000515571,;PPP2R2C,missense_variant,p.Arg267Cys,ENST00000507294,;PPP2R2C,missense_variant,p.Arg267Cys,ENST00000506140,;PPP2R2C,missense_variant,p.Arg274Cys,ENST00000335585,;PPP2R2C,non_coding_transcript_exon_variant,,ENST00000513943,;	844	404	94	SUCCESS
FBXL7	23194	.	GRCh37	5	15937055	15937055	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	317	0	ENST00000504595.1:c.1238del	p.Pro413LeufsTer13	p.P413Lfs*13	ENST00000504595	NM_012304.4	412	tgC/tg	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS54833.1	1236	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAATGCCCTTT	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	deletion	FBXL7,frameshift_variant,p.Pro401LeufsTer13,ENST00000329673,;FBXL7,frameshift_variant,p.Pro366LeufsTer13,ENST00000510662,;FBXL7,frameshift_variant,p.Pro413LeufsTer13,ENST00000504595,;MIR887,downstream_gene_variant,,ENST00000401258,;	1717	317	77	SUCCESS
LAMA2	3908	.	GRCh37	6	129637033	129637033	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758134778	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	10	0	ENST00000421865.2:c.3862G>A	p.Val1288Ile	p.V1288I	ENST00000421865	NM_001079823.1	1288	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS5138.1	3862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCGTCAGG	NONE	byFrequency	.	PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Pfam_domain:PF00052,SMART_domains:SM00281	.	.	ENSP00000400365	.	26/65	.	.	.	.	.	.	.	.	rs758134778	26/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.24)	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Val1288Ile,ENST00000421865,;	3911	10	48	SUCCESS
PRRC2A	7916	.	GRCh37	6	31597547	31597547	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	65	385	1	ENST00000376007.4:c.2179C>T	p.Pro727Ser	p.P727S	ENST00000376007	NM_080686.2	727	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4708.1	2179	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCCTCCT	NONE	.	.	hmmpanther:PTHR14038	.	.	ENSP00000365201	.	14/31	.	.	.	.	.	.	.	.	.	14/31	PASS	ENST00000376033	Transcript	.	.	ENSG00000204469	13918	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.641)	.	.	.	PRC2A_HUMAN	PRRC2A	HGNC	.	.	UPI000020E56F	SNV	PRRC2A,missense_variant,p.Pro727Ser,ENST00000376033,;PRRC2A,missense_variant,p.Pro727Ser,ENST00000376007,;PRRC2A,downstream_gene_variant,,ENST00000469577,;PRRC2A,upstream_gene_variant,,ENST00000460302,;PRRC2A,downstream_gene_variant,,ENST00000464079,;PRRC2A,upstream_gene_variant,,ENST00000484787,;PRRC2A,downstream_gene_variant,,ENST00000464890,;PRRC2A,downstream_gene_variant,,ENST00000483470,;	2413	387	103	SUCCESS
RXRB	6257	.	GRCh37	6	33166198	33166198	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs776043869	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	163	0	ENST00000374680.3:c.527del	p.Pro176LeufsTer4	p.P176Lfs*4	ENST00000374680	NM_021976.4	176	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS59007.1	527	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTTCAGGGGGG	NONE	.	.	hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083	.	.	ENSP00000363817	.	3/10	.	.	.	.	.	.	.	.	rs776043869,COSM1443734	3/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	deletion	RXRB,frameshift_variant,p.Pro80LeufsTer4,ENST00000413614,;RXRB,frameshift_variant,p.Pro176LeufsTer4,ENST00000374680,;RXRB,frameshift_variant,p.Pro176LeufsTer4,ENST00000374685,;RXRB,intron_variant,,ENST00000544186,;SLC39A7,upstream_gene_variant,,ENST00000374675,;SLC39A7,upstream_gene_variant,,ENST00000444757,;SLC39A7,upstream_gene_variant,,ENST00000374677,;RNY4P10,upstream_gene_variant,,ENST00000365571,;SLC39A7,upstream_gene_variant,,ENST00000463972,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,upstream_gene_variant,,ENST00000483821,;	665	163	82	SUCCESS
KCTD20	222658	.	GRCh37	6	36447368	36447368	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	10	0	ENST00000373731.2:c.538G>T	p.Asp180Tyr	p.D180Y	ENST00000373731	NM_173562.3	180	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4821.1	538	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGGATTAT	NONE	.	.	hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000362836	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000373731	Transcript	.	.	ENSG00000112078	21052	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KCD20_HUMAN	KCTD20	HGNC	F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN	.	UPI00001AADF6	SNV	KCTD20,missense_variant,p.Asp35Tyr,ENST00000536244,;KCTD20,missense_variant,p.Asp180Tyr,ENST00000373731,;KCTD20,intron_variant,,ENST00000544295,;KCTD20,intron_variant,,ENST00000449081,;KCTD20,downstream_gene_variant,,ENST00000460983,;KCTD20,downstream_gene_variant,,ENST00000498267,;KCTD20,downstream_gene_variant,,ENST00000483557,;KCTD20,intron_variant,,ENST00000474988,;KCTD20,missense_variant,p.Trp88Cys,ENST00000265344,;KCTD20,intron_variant,,ENST00000481911,;	929	10	39	SUCCESS
DST	667	.	GRCh37	6	56489341	56489341	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	10	0	ENST00000244364.6:c.3305T>C	p.Leu1102Pro	p.L1102P	ENST00000244364	NM_015548.4	1102	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS47443.1	3305	RADIA|VARSCANS	.	CTTCCAGCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,SMART_domains:SM00150	.	.	ENSP00000244364	.	22/84	.	.	.	.	.	.	.	.	.	22/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Leu100Pro,ENST00000522360,;DST,missense_variant,p.Leu1102Pro,ENST00000439203,;DST,missense_variant,p.Leu1102Pro,ENST00000446842,;DST,missense_variant,p.Leu1428Pro,ENST00000370788,;DST,missense_variant,p.Leu1102Pro,ENST00000244364,;DST,missense_variant,p.Leu1468Pro,ENST00000520645,;DST,missense_variant,p.Leu1102Pro,ENST00000370765,;DST,missense_variant,p.Leu1606Pro,ENST00000370754,;DST,missense_variant,p.Leu1428Pro,ENST00000361203,;DST,missense_variant,p.Leu1428Pro,ENST00000370769,;DST,missense_variant,p.Leu1428Pro,ENST00000312431,;DST,missense_variant,p.Leu1428Pro,ENST00000421834,;DST,missense_variant,p.Leu1102Pro,ENST00000518935,;	3513	10	35	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121684588	121684588	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	23	24	0	ENST00000393386.2:c.6050C>T	p.Pro2017Leu	p.P2017L	ENST00000393386	NM_001206838.1	2017	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS34740.1	6050	RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCAGCAG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000377047	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	deleterious(0.02)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Pro1150Leu,ENST00000449182,;PTPRZ1,missense_variant,p.Pro2017Leu,ENST00000393386,;PTPRZ1,downstream_gene_variant,,ENST00000470504,;	6461	24	130	SUCCESS
CLCN1	1180	.	GRCh37	7	143039472	143039472	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	53	17	0	ENST00000343257.2:c.1804A>G	p.Thr602Ala	p.T602A	ENST00000343257	NM_000083.2	602	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5881.1	1804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATACCATC	NONE	.	.	Superfamily_domains:SSF54631,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	.	.	ENSP00000339867	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000343257	Transcript	.	.	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	deleterious(0.02)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Thr602Ala,ENST00000343257,;	1891	17	146	SUCCESS
ABCA13	154664	.	GRCh37	7	48318518	48318518	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs544493291	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	15	17	0	ENST00000435803.1:c.7727T>A	p.Leu2576Ter	p.L2576*	ENST00000435803	NM_152701.3	2576	tTa/tAa	0	.	A:0	.	A:0.0014	.	A	L/*	protein_coding	YES	CCDS47584.1	7727	MUTECT|MUSE|VARSCANS	.	TACTTTAAAAA	CODON|p.I2579fs*1|c.7728delA|3,CODON|p.I2524fs*1|c.7563delA|3	byFrequency|by1000G	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	A:0	.	ENSP00000411096	A:0	18/62	.	.	.	.	.	.	.	.	rs544493291	18/62	PASS	ENST00000435803	Transcript	.	A:0.0006	ENSG00000179869	14638	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.002	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,stop_gained,p.Leu2576Ter,ENST00000435803,;	7751	17	150	SUCCESS
MLXIPL	51085	.	GRCh37	7	73020290	73020290	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	200	0	ENST00000313375.3:c.770T>C	p.Phe257Ser	p.F257S	ENST00000313375	NM_032953.2	257	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS5553.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGAAGAGA	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Phe257Ser,ENST00000313375,;MLXIPL,missense_variant,p.Phe219Ser,ENST00000456640,;MLXIPL,missense_variant,p.Phe257Ser,ENST00000429400,;MLXIPL,missense_variant,p.Phe257Ser,ENST00000354613,;MLXIPL,missense_variant,p.Phe257Ser,ENST00000414749,;MLXIPL,intron_variant,,ENST00000434326,;MLXIPL,intron_variant,,ENST00000395189,;MLXIPL,intron_variant,,ENST00000453275,;MLXIPL,missense_variant,p.Phe257Ser,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;	818	201	49	SUCCESS
SEMA3E	9723	.	GRCh37	7	83021890	83021890	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	68	40	0	ENST00000307792.3:c.1648A>G	p.Thr550Ala	p.T550A	ENST00000307792	NM_012431.2	550	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34674.1	1648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTTGGGT	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000303212	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.52)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Thr490Ala,ENST00000427262,;SEMA3E,missense_variant,p.Thr550Ala,ENST00000307792,;	2116	40	136	SUCCESS
SGCE	8910	.	GRCh37	7	94232701	94232701	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	100	43	0	ENST00000265735.7:c.726A>T	p.Pro242=	p.P242=	ENST00000265735	NM_003919.2	242	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47643.1	726	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGTGGATT	NONE	.	.	hmmpanther:PTHR10132:SF13,hmmpanther:PTHR10132,Pfam_domain:PF05510	.	.	ENSP00000398930	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000445866	Transcript	.	.	ENSG00000127990	10808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SGCE	HGNC	G5E9K6_HUMAN	.	UPI0000D4E987	SNV	SGCE,synonymous_variant,p.%3D,ENST00000447873,;SGCE,synonymous_variant,p.%3D,ENST00000415788,;SGCE,synonymous_variant,p.%3D,ENST00000445866,;SGCE,synonymous_variant,p.%3D,ENST00000437425,;SGCE,synonymous_variant,p.%3D,ENST00000265735,;SGCE,synonymous_variant,p.%3D,ENST00000428696,;SGCE,upstream_gene_variant,,ENST00000522045,;SGCE,non_coding_transcript_exon_variant,,ENST00000462731,;SGCE,upstream_gene_variant,,ENST00000472326,;	752	43	271	SUCCESS
CSMD3	114788	.	GRCh37	8	113347573	113347574	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1230860045	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	119	44	25	0	ENST00000297405.5:c.7149dup	p.Val2384CysfsTer22	p.V2384Cfs*22	ENST00000297405	NM_198123.1	2383	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS6315.1	7149-7150	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCACAAAAA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	45/71	.	.	.	.	.	.	.	.	.	45/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	insertion	CSMD3,frameshift_variant,p.Val2314CysfsTer22,ENST00000352409,;CSMD3,frameshift_variant,p.Val2280CysfsTer22,ENST00000455883,;CSMD3,frameshift_variant,p.Val2384CysfsTer22,ENST00000297405,;CSMD3,frameshift_variant,p.Val1654CysfsTer22,ENST00000339701,;CSMD3,frameshift_variant,p.Val2344CysfsTer22,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7394-7395	25	163	SUCCESS
TSTA3	0	.	GRCh37	8	144698895	144698895	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	44	139	0	ENST00000425753.2:c.-11-2A>G		p.X4_splice	ENST00000425753	NM_003313.3	4		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGTAAT	NONE	.	.	.	.	.	ENSP00000398803	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425753	Transcript	.	.	ENSG00000104522	12390	.	.	HIGH	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCL_HUMAN	TSTA3	HGNC	E9PP14_HUMAN,E9PLH9_HUMAN,E9PKL9_HUMAN	.	UPI000012A5A5	SNV	TSTA3,splice_acceptor_variant,,ENST00000529048,;TSTA3,splice_acceptor_variant,,ENST00000425753,;TSTA3,splice_acceptor_variant,,ENST00000529064,;TSTA3,splice_acceptor_variant,,ENST00000526290,;TSTA3,splice_acceptor_variant,,ENST00000533817,;TSTA3,upstream_gene_variant,,ENST00000524719,;TSTA3,upstream_gene_variant,,ENST00000527006,;TSTA3,splice_acceptor_variant,,ENST00000531006,;TSTA3,splice_acceptor_variant,,ENST00000527549,;TSTA3,splice_acceptor_variant,,ENST00000530474,;TSTA3,splice_acceptor_variant,,ENST00000532308,;TSTA3,splice_acceptor_variant,,ENST00000529899,;TSTA3,non_coding_transcript_exon_variant,,ENST00000525274,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531473,;TSTA3,upstream_gene_variant,,ENST00000528920,;TSTA3,upstream_gene_variant,,ENST00000527677,;	.	139	77	SUCCESS
TRIM55	84675	.	GRCh37	8	67067941	67067941	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	111	55	0	ENST00000315962.4:c.1524+1372A>C		p.*508*	ENST00000315962	NM_184085.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6184.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTAATGGG	NONE	.	.	.	.	.	ENSP00000323913	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315962	Transcript	.	.	ENSG00000147573	14215	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI55_HUMAN	TRIM55	HGNC	.	.	UPI00001CE3B7	SNV	TRIM55,missense_variant,p.Leu536Phe,ENST00000276573,;TRIM55,intron_variant,,ENST00000315962,;TRIM55,intron_variant,,ENST00000353317,;TRIM55,intron_variant,,ENST00000350034,;TRIM55,intron_variant,,ENST00000517647,;	.	55	237	SUCCESS
RXRA	6256	.	GRCh37	9	137328351	137328351	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1057519958	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	262	0	ENST00000481739.1:c.1280C>T	p.Ser427Phe	p.S427F	ENST00000481739	NM_002957.4	427	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS35172.1	1280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCCATCG	SITE|p.S427F|c.1280C>T|13,CODON|p.S427Y|c.1280C>A|3	.	.	Prints_domain:PR00398,Superfamily_domains:SSF48508,SMART_domains:SM00430,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	10/10	.	.	.	.	.	.	.	.	COSM1314611,COSM1314610	10/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Ser427Phe,ENST00000481739,;RXRA,missense_variant,p.Ser330Phe,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;	1332	262	72	SUCCESS
KLF9	687	.	GRCh37	9	73027906	73027906	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	40	522	0	ENST00000377126.2:c.374C>G	p.Ser125Cys	p.S125C	ENST00000377126	NM_001206.2	125	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS6633.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGAGAGC	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF131	.	.	ENSP00000366330	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000377126	Transcript	.	.	ENSG00000119138	1123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.1)	.	KLF9_HUMAN	KLF9	HGNC	.	.	UPI0000126B0A	SNV	KLF9,missense_variant,p.Ser125Cys,ENST00000377126,;	1635	522	141	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84530717	84530717	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	29	39	0	ENST00000527857.1:n.739C>T		p.*247*	ENST00000527857				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCCCTAC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	739	39	92	SUCCESS
DAPK1	1612	.	GRCh37	9	90318036	90318036	+	synonymous_variant	Silent	SNP	G	G	A	rs758891644	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	278	0	ENST00000358077.5:c.2964G>A	p.Leu988=	p.L988=	ENST00000358077	NM_001288731.1	988	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43842.1	2964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTGCAGCA	NONE	byFrequency	.	hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964	.	.	ENSP00000386135	.	25/26	.	.	.	.	.	.	.	.	rs758891644	25/26	PASS	ENST00000408954	Transcript	.	.	ENSG00000196730	2674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	SNV	DAPK1,synonymous_variant,p.%3D,ENST00000408954,;DAPK1,synonymous_variant,p.%3D,ENST00000358077,;DAPK1,synonymous_variant,p.%3D,ENST00000491893,;DAPK1,synonymous_variant,p.%3D,ENST00000469640,;DAPK1,synonymous_variant,p.%3D,ENST00000472284,;DAPK1,downstream_gene_variant,,ENST00000468482,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;	3299	278	51	SUCCESS
NLGN4X	57502	.	GRCh37	X	5811266	5811266	+	synonymous_variant	Silent	SNP	G	G	A	rs770117821	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	91	579	0	ENST00000275857.6:c.2043C>T	p.Val681=	p.V681=	ENST00000275857	NM_020742.2	681	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14126.1	2043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGACGGC	NONE	byFrequency	.	Prints_domain:PR01090,Transmembrane_helices:TMhelix	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	rs770117821,COSM374703	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,synonymous_variant,p.%3D,ENST00000381092,;NLGN4X,synonymous_variant,p.%3D,ENST00000381095,;NLGN4X,synonymous_variant,p.%3D,ENST00000381093,;NLGN4X,synonymous_variant,p.%3D,ENST00000538097,;NLGN4X,synonymous_variant,p.%3D,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	2671	580	240	SUCCESS
GJB1	2705	.	GRCh37	X	70443636	70443637	+	inframe_insertion	In_Frame_Ins	INS	-	-	TCATCT	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	304	0	ENST00000361726.6:c.89_94dup	p.Ile30_Phe31dup	p.I30_F31dup	ENST00000361726	NM_000166.5	30	gtc/gTCATCTtc	0	.	.	.	.	.	TCATCT	V/VIF	protein_coding	YES	CCDS14408.1	79-80	INDELOCATOR|VARSCANI	.	TCTCGGTCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF20,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206	.	.	ENSP00000363134	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374022	Transcript	.	.	ENSG00000169562	4283	15	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXB1_HUMAN	GJB1	HGNC	C9JWU8_HUMAN	.	UPI0000001C7E	insertion	GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000447581,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000361726,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000374029,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000374022,;	174-175	304	90	SUCCESS
LOXL4	84171	.	GRCh37	10	100017553	100017553	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs11189525	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	130	0	ENST00000260702.3:c.1114C>A	p.Pro372Thr	p.P372T	ENST00000260702	NM_032211.6	372	Ccc/Acc	0	T:0	T:0	.	T:0	.	T	P/T	protein_coding	YES	CCDS7473.1	1114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGCCCTA	NONE	byFrequency|byCluster|by2Hit2Allele|byHapMap|by1000G	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	T:0.0129	T:0.0001	ENSP00000260702	T:0	8/15	.	.	.	.	.	.	.	.	rs11189525	8/15	common_in_exac	ENST00000260702	Transcript	.	T:0.0026	ENSG00000138131	17171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	T:0	deleterious(0)	.	LOXL4_HUMAN	LOXL4	HGNC	.	.	UPI0000046706	SNV	LOXL4,missense_variant,p.Pro372Thr,ENST00000260702,;RP11-34A14.3,downstream_gene_variant,,ENST00000433374,;	1265	130	117	SUCCESS
BTAF1	9044	.	GRCh37	10	93722349	93722349	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	197	132	362	0	ENST00000265990.6:c.1318C>G	p.Gln440Glu	p.Q440E	ENST00000265990	NM_003972.2	440	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS7419.1	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCAGGAT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	12/38	.	.	.	.	.	.	.	.	.	12/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.94)	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,missense_variant,p.Gln440Glu,ENST00000265990,;BTAF1,non_coding_transcript_exon_variant,,ENST00000471217,;	1626	363	329	SUCCESS
ANO9	338440	.	GRCh37	11	432029	432029	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139380371	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	75	0	ENST00000332826.6:c.376G>A	p.Val126Ile	p.V126I	ENST00000332826	NM_001012302.2	126	Gtt/Att	0	T:0.0002	.	.	.	.	T	V/I	protein_coding	YES	CCDS31326.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAACGAAGT	NONE	byCluster	.	hmmpanther:PTHR12308:SF27,hmmpanther:PTHR12308	.	T:0	ENSP00000332788	.	5/23	.	.	.	.	.	.	.	.	rs139380371,COSM242976	5/23	PASS	ENST00000332826	Transcript	.	.	ENSG00000185101	20679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	tolerated(1)	0,1	ANO9_HUMAN	ANO9	HGNC	.	.	UPI00001D782B	SNV	ANO9,missense_variant,p.Val126Ile,ENST00000332826,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,upstream_gene_variant,,ENST00000525857,;ANO9,upstream_gene_variant,,ENST00000526142,;ANO9,upstream_gene_variant,,ENST00000534161,;	461	75	78	SUCCESS
MIR194-2	406970	.	GRCh37	11	64658908	64658908	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	102	0	ENST00000413053.1:n.1771T>G		p.*591*	ENST00000413053				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31602.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGAACCAAT	NONE	.	3110	.	.	.	ENSP00000366475	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377264	Transcript	.	.	ENSG00000110046	29028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG2A_HUMAN	ATG2A	HGNC	B4DV45_HUMAN	.	UPI00001C1F21	SNV	EHD1,upstream_gene_variant,,ENST00000457202,;ATG2A,downstream_gene_variant,,ENST00000418259,;ATG2A,downstream_gene_variant,,ENST00000421419,;ATG2A,downstream_gene_variant,,ENST00000377264,;MIR194-2,non_coding_transcript_exon_variant,,ENST00000413053,;MIR194-2,non_coding_transcript_exon_variant,,ENST00000384864,;RP11-665N17.4,upstream_gene_variant,,ENST00000601517,;MIR192,upstream_gene_variant,,ENST00000384915,;AP001187.1,upstream_gene_variant,,ENST00000366222,;	.	102	90	SUCCESS
RBM19	9904	.	GRCh37	12	114386746	114386746	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776232799	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	84	296	0	ENST00000261741.5:c.1168G>A	p.Gly390Arg	p.G390R	ENST00000261741	NM_016196.3	390	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS9172.1	1168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCGAGTA	NONE	byFrequency	.	hmmpanther:PTHR24012:SF312,hmmpanther:PTHR24012,Gene3D:3.30.70.330	.	.	ENSP00000442053	.	10/25	.	.	.	.	.	.	.	.	rs776232799	10/25	PASS	ENST00000545145	Transcript	.	.	ENSG00000122965	29098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.24)	.	RBM19_HUMAN	RBM19	HGNC	.	.	UPI000013D1EC	SNV	RBM19,missense_variant,p.Gly390Arg,ENST00000545145,;RBM19,missense_variant,p.Gly390Arg,ENST00000392561,;RBM19,missense_variant,p.Gly390Arg,ENST00000261741,;	1247	296	232	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43792900	43792900	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	165	0	ENST00000389420.3:c.4421G>T	p.Cys1474Phe	p.C1474F	ENST00000389420	NM_025003.3	1474	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31778.2	4421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGCATCTG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895,Superfamily_domains:SSF82895	.	.	ENSP00000374071	.	29/39	.	.	.	.	.	.	.	.	.	29/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Cys1474Phe,ENST00000389420,;	4421	165	131	SUCCESS
ADCY6	112	.	GRCh37	12	49170256	49170256	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1446810799	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	118	0	ENST00000307885.4:c.1490A>G	p.Asn497Ser	p.N497S	ENST00000307885	NM_015270.3	497	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8767.1	1490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATTGGAC	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,PROSITE_patterns:PS00452,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000311405	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000307885	Transcript	.	.	ENSG00000174233	237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	deleterious(0)	.	ADCY6_HUMAN	ADCY6	HGNC	Q9NR74_HUMAN,Q6LCE1_HUMAN	.	UPI000003EC29	SNV	ADCY6,missense_variant,p.Asn497Ser,ENST00000307885,;ADCY6,missense_variant,p.Asn497Ser,ENST00000550422,;ADCY6,missense_variant,p.Asn497Ser,ENST00000357869,;ADCY6,downstream_gene_variant,,ENST00000548820,;MIR4701,upstream_gene_variant,,ENST00000583094,;ADCY6,non_coding_transcript_exon_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,non_coding_transcript_exon_variant,,ENST00000551435,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;	2185	118	74	SUCCESS
CHD4	1108	.	GRCh37	12	6692504	6692504	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	48	161	0	ENST00000357008.2:c.3920A>G	p.Glu1307Gly	p.E1307G	ENST00000357008	NM_001273.2	1307	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS8552.1	3920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTCTTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,Pfam_domain:PF06465	.	.	ENSP00000349508	.	26/40	.	.	.	.	.	.	.	.	.	26/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,missense_variant,p.Glu1300Gly,ENST00000544040,;CHD4,missense_variant,p.Glu1304Gly,ENST00000544484,;CHD4,missense_variant,p.Glu1307Gly,ENST00000309577,;CHD4,missense_variant,p.Glu1307Gly,ENST00000357008,;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,non_coding_transcript_exon_variant,,ENST00000501075,;CHD4,non_coding_transcript_exon_variant,,ENST00000540960,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000542717,;	4084	161	141	SUCCESS
ATP7B	540	.	GRCh37	13	52548363	52548363	+	synonymous_variant	Silent	SNP	G	G	A	rs377294197	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	66	0	ENST00000242839.4:c.993C>T	p.Ala331=	p.A331=	ENST00000242839	NM_000053.3	331	gcC/gcT	0	A:0	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS41892.1	993	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGGCTCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24093:SF239,hmmpanther:PTHR24093,Gene3D:3.30.70.100	A:0	A:0.0002	ENSP00000242839	A:0	2/21	.	.	.	.	.	.	.	.	rs377294197	2/21	PASS	ENST00000242839	Transcript	.	A:0.0002	ENSG00000123191	870	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ATP7B_HUMAN	ATP7B	HGNC	G1FFF2_HUMAN,D3KCZ0_HUMAN,C8BMD5_HUMAN,A6YQZ1_HUMAN	.	UPI00001FCE15	SNV	ATP7B,synonymous_variant,p.%3D,ENST00000542656,;ATP7B,synonymous_variant,p.%3D,ENST00000400370,;ATP7B,synonymous_variant,p.%3D,ENST00000242839,;ATP7B,synonymous_variant,p.%3D,ENST00000418097,;ATP7B,synonymous_variant,p.%3D,ENST00000448424,;ATP7B,synonymous_variant,p.%3D,ENST00000344297,;ATP7B,intron_variant,,ENST00000400366,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,upstream_gene_variant,,ENST00000483772,;	1150	66	35	SUCCESS
LRFN5	145581	.	GRCh37	14	42357103	42357103	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	152	0	ENST00000298119.4:c.1275A>T	p.Glu425Asp	p.E425D	ENST00000298119	NM_152447.3	425	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS9678.1	1275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAAGCTAC	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.26)	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Glu425Asp,ENST00000298119,;LRFN5,missense_variant,p.Glu425Asp,ENST00000554120,;LRFN5,missense_variant,p.Glu425Asp,ENST00000554171,;	2464	152	126	SUCCESS
DACT1	51339	.	GRCh37	14	59112758	59112758	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	27	0	ENST00000335867.4:c.1417G>T	p.Glu473Ter	p.E473*	ENST00000335867		473	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9736.1	1417	RADIA|MUTECT|MUSE	.	CAGGGGAGTCC	NONE	.	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268	.	.	ENSP00000337439	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	SNV	DACT1,stop_gained,p.Glu473Ter,ENST00000335867,;DACT1,stop_gained,p.Glu436Ter,ENST00000395153,;DACT1,stop_gained,p.Glu192Ter,ENST00000556859,;DACT1,stop_gained,p.Glu192Ter,ENST00000541264,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	1441	27	24	SUCCESS
ADAM21	8747	.	GRCh37	14	70925176	70925176	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	72	199	0	ENST00000603540.1:c.960T>G	p.Ile320Met	p.I320M	ENST00000603540	NM_003813.3	320	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS9804.1	960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATTGATTG	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01421,hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905,PROSITE_profiles:PS50215	.	.	ENSP00000474385	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000603540	Transcript	.	.	ENSG00000139985	200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	tolerated(0.1)	.	ADA21_HUMAN	ADAM21	HGNC	.	.	UPI000013D756	SNV	ADAM21,missense_variant,p.Ile320Met,ENST00000603540,;ADAM21,missense_variant,p.Ile320Met,ENST00000267499,;RP11-486O13.4,intron_variant,,ENST00000556646,;	1218	199	158	SUCCESS
PTPN9	5780	.	GRCh37	15	75798215	75798215	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	70	195	0	ENST00000306726.2:c.769C>G	p.His257Asp	p.H257D	ENST00000306726	NM_002833.2	257	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS10280.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGGCCGT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF194,Superfamily_domains:SSF52087	.	.	ENSP00000303554	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000306726	Transcript	.	.	ENSG00000169410	9661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.343)	.	tolerated(0.16)	.	PTN9_HUMAN	PTPN9	HGNC	.	.	UPI0000000CAC	SNV	PTPN9,missense_variant,p.His257Asp,ENST00000306726,;PTPN9,upstream_gene_variant,,ENST00000564970,;	1282	195	178	SUCCESS
SRRM2	23524	.	GRCh37	16	2814972	2814972	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	41	0	ENST00000301740.8:c.4443T>C	p.Asp1481=	p.D1481=	ENST00000301740	NM_016333.3	1481	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS32373.1	4443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGATTCTTC	NONE	.	.	hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,synonymous_variant,p.%3D,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;AC092117.2,upstream_gene_variant,,ENST00000581119,;SRRM2,non_coding_transcript_exon_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,upstream_gene_variant,,ENST00000574866,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,upstream_gene_variant,,ENST00000574331,;SRRM2,upstream_gene_variant,,ENST00000570705,;	4992	41	23	SUCCESS
KRT27	342574	.	GRCh37	17	38933922	38933922	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	60	131	0	ENST00000301656.3:c.1035G>T	p.Gln345His	p.Q345H	ENST00000301656	NM_181537.3	345	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS11375.1	1035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCTGTGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	.	ENSP00000301656	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000301656	Transcript	.	.	ENSG00000171446	30841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	deleterious(0.02)	.	K1C27_HUMAN	KRT27	HGNC	.	.	UPI0000200C91	SNV	KRT27,missense_variant,p.Gln345His,ENST00000301656,;KRT27,non_coding_transcript_exon_variant,,ENST00000540723,;	1076	131	117	SUCCESS
UTS2R	2837	.	GRCh37	17	80332626	80332626	+	synonymous_variant	Silent	SNP	C	C	A	rs769680132	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	66	0	ENST00000313135.2:c.426C>A	p.Thr142=	p.T142=	ENST00000313135	NM_018949.1	142	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS11810.1	426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCGTCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF60,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323516	.	1/1	.	.	.	.	.	.	.	.	rs769680132	1/1	PASS	ENST00000313135	Transcript	.	.	ENSG00000181408	4468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UR2R_HUMAN	UTS2R	HGNC	.	.	UPI000005046F	SNV	UTS2R,synonymous_variant,p.%3D,ENST00000313135,;	474	66	51	SUCCESS
ZNF20	7568	.	GRCh37	19	12243520	12243520	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761462185	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	92	0	ENST00000334213.5:c.1481G>A	p.Arg494Gln	p.R494Q	ENST00000334213	NM_001203250.1	494	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45986.1	1481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATCGAATG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF121,PROSITE_profiles:PS50157	.	.	ENSP00000335437	.	4/4	.	.	.	.	.	.	.	.	rs761462185	4/4	PASS	ENST00000334213	Transcript	.	.	ENSG00000132010	12992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.63)	.	ZNF20_HUMAN	ZNF20	HGNC	Q86XA2_HUMAN	.	UPI000013C404	SNV	ZNF20,missense_variant,p.Arg494Gln,ENST00000334213,;ZNF20,intron_variant,,ENST00000600335,;ZNF20,downstream_gene_variant,,ENST00000418866,;ZNF20,intron_variant,,ENST00000480770,;ZNF788,intron_variant,,ENST00000601686,;ZNF20,downstream_gene_variant,,ENST00000485451,;ZNF20,downstream_gene_variant,,ENST00000480477,;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000430024,;ZNF20,downstream_gene_variant,,ENST00000454949,;ZNF20,downstream_gene_variant,,ENST00000478942,;	1706	92	64	SUCCESS
ERF	2077	.	GRCh37	19	42753847	42753847	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	66	0	ENST00000222329.4:c.417T>G	p.Gly139=	p.G139=	ENST00000222329	NM_006494.2	139	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS12600.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTACCACC	NONE	.	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF31,Superfamily_domains:SSF46785	.	.	ENSP00000222329	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000222329	Transcript	1	.	ENSG00000105722	3444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERF_HUMAN	ERF	HGNC	M0QXN0_HUMAN,B7Z6N1_HUMAN,B7Z4R0_HUMAN	.	UPI000000106F	SNV	ERF,synonymous_variant,p.%3D,ENST00000593944,;ERF,synonymous_variant,p.%3D,ENST00000222329,;ERF,synonymous_variant,p.%3D,ENST00000440177,;ERF,intron_variant,,ENST00000598965,;AC006486.9,intron_variant,,ENST00000594664,;AC006486.1,downstream_gene_variant,,ENST00000378108,;ERF,downstream_gene_variant,,ENST00000595941,;ERF,non_coding_transcript_exon_variant,,ENST00000595448,;ERF,downstream_gene_variant,,ENST00000596818,;	575	66	40	SUCCESS
TRPM4	54795	.	GRCh37	19	49703678	49703678	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759518981	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	67	0	ENST00000252826.5:c.2767G>A	p.Val923Met	p.V923M	ENST00000252826	NM_017636.3	923	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS33073.1	2767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCGTGAGC	NONE	byFrequency	.	hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800,Pfam_domain:PF00520	.	.	ENSP00000252826	.	18/25	.	.	.	.	.	.	.	.	rs759518981	18/25	PASS	ENST00000252826	Transcript	1	.	ENSG00000130529	17993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRPM4_HUMAN	TRPM4	HGNC	.	.	UPI0000070598	SNV	TRPM4,missense_variant,p.Val569Met,ENST00000355712,;TRPM4,missense_variant,p.Val778Met,ENST00000427978,;TRPM4,missense_variant,p.Val923Met,ENST00000252826,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,downstream_gene_variant,,ENST00000595882,;	2893	67	59	SUCCESS
SLC25A24	29957	.	GRCh37	1	108735196	108735196	+	intron_variant	Intron	SNP	C	C	A	rs150343087	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	47	97	0	ENST00000565488.1:c.184-6620G>T		p.*62*	ENST00000565488	NM_013386.4			0	T:0.0096	T:0.0076	.	T:0	.	A	.	protein_coding	YES	CCDS41361.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCTTGTT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000457733	T:0	.	.	.	.	.	.	.	.	.	rs150343087	.	PASS	ENST00000565488	Transcript	.	T:0.0020	ENSG00000085491	20662	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SCMC1_HUMAN	SLC25A24	HGNC	.	.	UPI0000206111	SNV	SLC25A24,missense_variant,p.Lys16Asn,ENST00000370041,;SLC25A24,intron_variant,,ENST00000565488,;SLC25A24,intron_variant,,ENST00000264128,;	.	97	94	SUCCESS
SLC6A17	388662	.	GRCh37	1	110740935	110740935	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141622274	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	115	0	ENST00000331565.4:c.2053C>T	p.Pro685Ser	p.P685S	ENST00000331565	NM_001010898.2	685	Cct/Tct	0	T:0	T:0	.	T:0	.	T	P/S	protein_coding	YES	CCDS30799.1	2053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACCTTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11616:SF102,hmmpanther:PTHR11616	T:0	T:0.0002	ENSP00000330199	T:0.002	12/12	.	.	.	.	.	.	.	.	rs141622274	12/12	PASS	ENST00000331565	Transcript	.	T:0.0004	ENSG00000197106	31399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	T:0	tolerated(0.14)	.	S6A17_HUMAN	SLC6A17	HGNC	.	.	UPI0000470B3D	SNV	SLC6A17,missense_variant,p.Pro685Ser,ENST00000331565,;SLC6A17,downstream_gene_variant,,ENST00000465159,;	2538	115	104	SUCCESS
TCHH	7062	.	GRCh37	1	152083976	152083976	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs572401737	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	65	195	0	ENST00000368804.1:c.1717G>T	p.Glu573Ter	p.E573*	ENST00000368804	NM_007113.3	573	Gag/Tag	0	.	T:0	.	T:0	.	A	E/*	protein_coding	YES	CCDS41396.1	1717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCCTCCT	NONE	by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	T:0.001	.	ENSP00000357794	T:0	2/2	.	.	.	.	.	.	.	.	rs572401737	2/2	PASS	ENST00000368804	Transcript	.	T:0.0002	ENSG00000159450	11791	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,stop_gained,p.Glu573Ter,ENST00000368804,;	1717	195	264	SUCCESS
ZBTB7B	51043	.	GRCh37	1	154987976	154987976	+	synonymous_variant	Silent	SNP	G	G	A	rs199671742	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	34	123	0	ENST00000292176.2:c.840G>A	p.Glu280=	p.E280=	ENST00000292176		280	gaG/gaA	0	.	A:0	.	A:0	.	A	E	protein_coding	YES	CCDS58030.1	942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGGAGCT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF129	A:0.002	.	ENSP00000406286	A:0	4/5	.	.	.	.	.	.	.	.	rs199671742	4/5	PASS	ENST00000417934	Transcript	.	A:0.0004	ENSG00000160685	18668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZBT7B_HUMAN	ZBTB7B	HGNC	.	.	UPI0001A5EB6F	SNV	ZBTB7B,synonymous_variant,p.%3D,ENST00000535420,;ZBTB7B,synonymous_variant,p.%3D,ENST00000368426,;ZBTB7B,synonymous_variant,p.%3D,ENST00000292176,;ZBTB7B,synonymous_variant,p.%3D,ENST00000417934,;DCST2,downstream_gene_variant,,ENST00000368424,;ZBTB7B,downstream_gene_variant,,ENST00000461530,;ZBTB7B,downstream_gene_variant,,ENST00000483226,;ZBTB7B,downstream_gene_variant,,ENST00000487542,;DCST2,downstream_gene_variant,,ENST00000485982,;DCST2,downstream_gene_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000467991,;	1211	123	146	SUCCESS
SELE	6401	.	GRCh37	1	169696929	169696929	+	synonymous_variant	Silent	SNP	A	A	G	rs761064301	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	86	240	0	ENST00000333360.7:c.1419T>C	p.Leu473=	p.L473=	ENST00000333360	NM_000450.2	473	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1283.1	1419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCAAGTTG	NONE	byFrequency	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF336,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000331736	.	9/14	.	.	.	.	.	.	.	.	rs761064301	9/14	PASS	ENST00000333360	Transcript	.	.	ENSG00000007908	10718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYAM2_HUMAN	SELE	HGNC	.	.	UPI000012E44A	SNV	SELE,synonymous_variant,p.%3D,ENST00000367776,;SELE,synonymous_variant,p.%3D,ENST00000367775,;SELE,synonymous_variant,p.%3D,ENST00000333360,;SELE,synonymous_variant,p.%3D,ENST00000367781,;SELE,synonymous_variant,p.%3D,ENST00000367780,;SELE,intron_variant,,ENST00000367779,;SELE,intron_variant,,ENST00000367782,;SELE,intron_variant,,ENST00000367774,;SELE,intron_variant,,ENST00000367777,;C1orf112,intron_variant,,ENST00000498289,;SELE,downstream_gene_variant,,ENST00000461085,;	1559	240	283	SUCCESS
ANGPTL1	9068	.	GRCh37	1	178820448	178820448	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	85	111	0	ENST00000234816.2:c.1292A>G	p.Asn431Ser	p.N431S	ENST00000234816	NM_004673.3	431	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS1327.1	1292	RADIA|MUTECT|MUSE	.	CGCAGTTTCCT	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF25,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000234816	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000234816	Transcript	.	.	ENSG00000116194	489	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0.02)	.	ANGL1_HUMAN	ANGPTL1	HGNC	.	.	UPI000004C64E	SNV	ANGPTL1,missense_variant,p.Asn431Ser,ENST00000234816,;ANGPTL1,missense_variant,p.Asn431Ser,ENST00000367629,;RALGPS2,intron_variant,,ENST00000324778,;RALGPS2,intron_variant,,ENST00000367635,;RALGPS2,intron_variant,,ENST00000367634,;RALGPS2,intron_variant,,ENST00000495034,;	1740	111	163	SUCCESS
TNNT2	7139	.	GRCh37	1	201328352	201328352	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147940106	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	44	128	0	ENST00000236918.7:c.868G>A	p.Gly290Arg	p.G290R	ENST00000236918		290	Ggg/Agg	0	T:0.0002	.	.	.	.	T	G/R	protein_coding	YES	CCDS30969.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	GCGCCCGGTGA	NONE	byCluster	.	Gene3D:1.20.5.350,hmmpanther:PTHR11521:SF5,hmmpanther:PTHR11521	.	T:0	ENSP00000422031	.	16/16	.	.	.	.	.	.	.	.	rs147940106	16/16	PASS	ENST00000509001	Transcript	.	.	ENSG00000118194	11949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.958)	.	deleterious(0.04)	.	TNNT2_HUMAN	TNNT2	HGNC	Q8IZA1_HUMAN,Q15608_HUMAN,A9QLG2_HUMAN,A9QLG1_HUMAN	.	UPI000014A55F	SNV	TNNT2,missense_variant,p.Gly285Arg,ENST00000367318,;TNNT2,missense_variant,p.Gly294Arg,ENST00000458432,;TNNT2,missense_variant,p.Gly285Arg,ENST00000367317,;TNNT2,missense_variant,p.Gly280Arg,ENST00000360372,;TNNT2,missense_variant,p.Gly282Arg,ENST00000367315,;TNNT2,missense_variant,p.Gly285Arg,ENST00000509001,;TNNT2,missense_variant,p.Gly282Arg,ENST00000367322,;TNNT2,missense_variant,p.Gly288Arg,ENST00000421663,;TNNT2,missense_variant,p.Gly252Arg,ENST00000367320,;TNNT2,missense_variant,p.Gly290Arg,ENST00000236918,;TNNT2,downstream_gene_variant,,ENST00000438742,;TNNT2,downstream_gene_variant,,ENST00000455702,;TNNT2,non_coding_transcript_exon_variant,,ENST00000460780,;TNNT2,non_coding_transcript_exon_variant,,ENST00000476888,;TNNT2,non_coding_transcript_exon_variant,,ENST00000479297,;TNNT2,downstream_gene_variant,,ENST00000477035,;TNNT2,downstream_gene_variant,,ENST00000466570,;TNNT2,non_coding_transcript_exon_variant,,ENST00000491504,;TNNT2,downstream_gene_variant,,ENST00000503459,;TNNT2,downstream_gene_variant,,ENST00000515042,;	1140	128	164	SUCCESS
EIF2D	1939	.	GRCh37	1	206772954	206772954	+	synonymous_variant	Silent	SNP	G	G	A	rs114245341	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	31	68	0	ENST00000271764.2:c.1065C>T	p.Phe355=	p.F355=	ENST00000271764	NM_006893.2	355	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS1465.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACGAAAGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12217:SF4,hmmpanther:PTHR12217	.	.	ENSP00000271764	.	10/15	.	.	.	.	.	.	.	.	rs782633316,rs114245341	10/15	PASS	ENST00000271764	Transcript	.	.	ENSG00000143486	6583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF2D_HUMAN	EIF2D	HGNC	.	.	UPI00000710E1	SNV	EIF2D,synonymous_variant,p.%3D,ENST00000367114,;EIF2D,synonymous_variant,p.%3D,ENST00000271764,;EIF2D,downstream_gene_variant,,ENST00000437518,;EIF2D,non_coding_transcript_exon_variant,,ENST00000468891,;EIF2D,intron_variant,,ENST00000484492,;EIF2D,upstream_gene_variant,,ENST00000472709,;EIF2D,downstream_gene_variant,,ENST00000461334,;	1274	68	127	SUCCESS
CASS4	57091	.	GRCh37	20	55027468	55027468	+	synonymous_variant	Silent	SNP	G	G	A	rs770612500	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	4	93	0	ENST00000360314.3:c.1236G>A	p.Ser412=	p.S412=	ENST00000360314	NM_001164116.1	412	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33492.1	1236	MUTECT|MUSE	.	TCCTCGTGCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654	.	.	ENSP00000360387	.	5/6	.	.	.	.	.	.	.	.	rs770612500,COSM1247378	5/6	PASS	ENST00000371336	Transcript	.	.	ENSG00000087589	15878	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CASS4_HUMAN	CASS4	HGNC	.	.	UPI00001285DB	SNV	CASS4,synonymous_variant,p.%3D,ENST00000371336,;CASS4,synonymous_variant,p.%3D,ENST00000360314,;CASS4,intron_variant,,ENST00000434344,;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	1437	93	97	SUCCESS
SLC2A4RG	56731	.	GRCh37	20	62373481	62373481	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	104	0	ENST00000266077.2:c.580-2A>G		p.X194_splice	ENST00000266077	NM_020062.3	194		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13537.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGAGCC	NONE	.	.	.	.	.	ENSP00000266077	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266077	Transcript	.	.	ENSG00000125520	15930	.	.	HIGH	4/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2A4R_HUMAN	SLC2A4RG	HGNC	Q2PHL5_HUMAN	.	UPI000013D6CE	SNV	SLC2A4RG,splice_acceptor_variant,,ENST00000266077,;ZBTB46,downstream_gene_variant,,ENST00000395104,;RP4-583P15.14,downstream_gene_variant,,ENST00000467211,;LIME1,downstream_gene_variant,,ENST00000493265,;ZBTB46,downstream_gene_variant,,ENST00000245663,;LIME1,downstream_gene_variant,,ENST00000309546,;ZBTB46,downstream_gene_variant,,ENST00000302995,;LIME1,downstream_gene_variant,,ENST00000444951,;RP4-583P15.10,upstream_gene_variant,,ENST00000433905,;RP4-583P15.10,upstream_gene_variant,,ENST00000447343,;SLC2A4RG,splice_acceptor_variant,,ENST00000473157,;SLC2A4RG,splice_acceptor_variant,,ENST00000482718,;SLC2A4RG,splice_acceptor_variant,,ENST00000485897,;SLC2A4RG,splice_acceptor_variant,,ENST00000493772,;SLC2A4RG,splice_acceptor_variant,,ENST00000474248,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000491109,;LIME1,downstream_gene_variant,,ENST00000490824,;LIME1,downstream_gene_variant,,ENST00000476183,;LIME1,downstream_gene_variant,,ENST00000496820,;LIME1,downstream_gene_variant,,ENST00000465591,;RP4-583P15.14,downstream_gene_variant,,ENST00000476221,;SLC2A4RG,upstream_gene_variant,,ENST00000496425,;LIME1,downstream_gene_variant,,ENST00000487026,;LIME1,downstream_gene_variant,,ENST00000489212,;LIME1,downstream_gene_variant,,ENST00000480139,;LIME1,downstream_gene_variant,,ENST00000494776,;RP4-583P15.15,downstream_gene_variant,,ENST00000490623,;	.	104	73	SUCCESS
DSCAM	1826	.	GRCh37	21	41719859	41719859	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	67	0	ENST00000400454.1:c.948C>A	p.Ala316=	p.A316=	ENST00000400454	NM_001271534.1	316	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42929.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGGCTTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,synonymous_variant,p.%3D,ENST00000404019,;DSCAM,synonymous_variant,p.%3D,ENST00000400454,;	1426	67	52	SUCCESS
LRRC3	81543	.	GRCh37	21	45876637	45876638	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	27	0	ENST00000291592.4:c.112dup	p.Arg38ProfsTer4	p.R38Pfs*4	ENST00000291592	NM_030891.3	37	tgc/tgCc	0	.	.	.	.	.	C	C/CX	protein_coding	YES	CCDS13711.1	110-111	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCTGCCGGT	NONE	.	.	hmmpanther:PTHR24365:SF135,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013	.	.	ENSP00000291592	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000291592	Transcript	.	.	ENSG00000160233	14965	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRC3_HUMAN	LRRC3	HGNC	.	.	UPI000012E946	insertion	LRRC3,frameshift_variant,p.Arg38ProfsTer4,ENST00000291592,;LRRC3DN,upstream_gene_variant,,ENST00000596691,;LRRC3-AS1,upstream_gene_variant,,ENST00000426578,;	427-428	27	24	SUCCESS
ASCC2	84164	.	GRCh37	22	30218403	30218403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	82	0	ENST00000307790.3:c.462C>A	p.Phe154Leu	p.F154L	ENST00000307790	NM_032204.4	154	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS13869.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGAAGTT	NONE	.	.	hmmpanther:PTHR21494,hmmpanther:PTHR21494:SF0	.	.	ENSP00000380877	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000397771	Transcript	.	.	ENSG00000100325	24103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	deleterious(0)	.	ASCC2_HUMAN	ASCC2	HGNC	B1AH59_HUMAN	.	UPI000006E83B	SNV	ASCC2,missense_variant,p.Phe154Leu,ENST00000412689,;ASCC2,missense_variant,p.Phe154Leu,ENST00000307790,;ASCC2,missense_variant,p.Phe154Leu,ENST00000431535,;ASCC2,missense_variant,p.Phe154Leu,ENST00000397771,;ASCC2,intron_variant,,ENST00000542393,;ASCC2,non_coding_transcript_exon_variant,,ENST00000495967,;ASCC2,3_prime_UTR_variant,,ENST00000458594,;ASCC2,non_coding_transcript_exon_variant,,ENST00000463203,;ASCC2,non_coding_transcript_exon_variant,,ENST00000465667,;ASCC2,intron_variant,,ENST00000449900,;ASCC2,downstream_gene_variant,,ENST00000454854,;ASCC2,downstream_gene_variant,,ENST00000453160,;ASCC2,downstream_gene_variant,,ENST00000460313,;ASCC2,downstream_gene_variant,,ENST00000462454,;ASCC2,downstream_gene_variant,,ENST00000477074,;ASCC2,downstream_gene_variant,,ENST00000495681,;	640	82	73	SUCCESS
SEC14L2	23541	.	GRCh37	22	30793042	30793042	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	47	0	ENST00000312932.9:c.-64G>T		p.*22*	ENST00000312932	NM_012429.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13876.1	.	MUTECT|MUSE	.	TCTGTGCTCCA	NONE	.	.	.	.	.	ENSP00000316203	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000312932	Transcript	.	.	ENSG00000100003	10699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S14L2_HUMAN	SEC14L2	HGNC	C9JZI9_HUMAN,B7Z3Z8_HUMAN	.	UPI0000135433	SNV	SEC14L2,5_prime_UTR_variant,,ENST00000405717,;SEC14L2,5_prime_UTR_variant,,ENST00000312932,;SEC14L2,5_prime_UTR_variant,,ENST00000402592,;SEC14L2,5_prime_UTR_variant,,ENST00000403484,;SEC14L2,5_prime_UTR_variant,,ENST00000428195,;RNF215,intron_variant,,ENST00000431544,;SEC14L2,upstream_gene_variant,,ENST00000429917,;SEC14L2,upstream_gene_variant,,ENST00000415072,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000459728,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000416523,;SEC14L2,upstream_gene_variant,,ENST00000485482,;SEC14L2,upstream_gene_variant,,ENST00000484486,;SEC14L2,5_prime_UTR_variant,,ENST00000452649,;SEC14L2,5_prime_UTR_variant,,ENST00000437022,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000467218,;SEC14L2,upstream_gene_variant,,ENST00000464335,;	197	47	37	SUCCESS
MYH9	4627	.	GRCh37	22	36721141	36721141	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	66	0	ENST00000216181.5:c.612+1472A>T		p.*204*	ENST00000216181	NM_002473.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13927.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCTCACAG	NONE	.	.	.	.	.	ENSP00000216181	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	MODIFIER	5/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,missense_variant,p.Arg214Trp,ENST00000401701,;MYH9,intron_variant,,ENST00000216181,;MYH9,intron_variant,,ENST00000463027,;MYH9,upstream_gene_variant,,ENST00000472210,;	.	66	40	SUCCESS
E2F6	1876	.	GRCh37	2	11593707	11593707	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	177	0	ENST00000381525.3:c.380+1G>C		p.X127_splice	ENST00000381525	NM_001278278.1	127		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1680.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACATCCA	NONE	.	.	.	.	.	ENSP00000370936	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381525	Transcript	.	.	ENSG00000169016	3120	.	.	HIGH	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2F6_HUMAN	E2F6	HGNC	Q6Q9Z5_HUMAN,Q53YM3_HUMAN	.	UPI0000000C90	SNV	E2F6,splice_donor_variant,,ENST00000542100,;E2F6,splice_donor_variant,,ENST00000307236,;E2F6,splice_donor_variant,,ENST00000362009,;E2F6,splice_donor_variant,,ENST00000546212,;E2F6,splice_donor_variant,,ENST00000381525,;E2F6,splice_donor_variant,,ENST00000468775,;E2F6,splice_donor_variant,,ENST00000421117,;E2F6,splice_donor_variant,,ENST00000444832,;E2F6,splice_donor_variant,,ENST00000428221,;E2F6,splice_donor_variant,,ENST00000437573,;E2F6,splice_donor_variant,,ENST00000455198,;E2F6,downstream_gene_variant,,ENST00000498701,;E2F6,upstream_gene_variant,,ENST00000471343,;	.	177	103	SUCCESS
ACVR1C	130399	.	GRCh37	2	158390474	158390474	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	45	0	ENST00000243349.8:c.1438A>G	p.Lys480Glu	p.K480E	ENST00000243349	NM_001111032.1	480	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS2205.1	1438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTCTTAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF58,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000243349	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000243349	Transcript	.	.	ENSG00000123612	18123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ACV1C_HUMAN	ACVR1C	HGNC	Q53SF5_HUMAN	.	UPI000006CFAE	SNV	ACVR1C,missense_variant,p.Lys323Glu,ENST00000348328,;ACVR1C,missense_variant,p.Lys430Glu,ENST00000409680,;ACVR1C,missense_variant,p.Lys480Glu,ENST00000243349,;ACVR1C,missense_variant,p.Lys400Glu,ENST00000335450,;	1799	45	54	SUCCESS
AOX1	316	.	GRCh37	2	201478589	201478589	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	54	144	0	ENST00000374700.2:c.1511T>G	p.Leu504Trp	p.L504W	ENST00000374700	NM_001159.3	504	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS33360.1	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTGGGCT	BUFFER|p.A507V|c.1520C>T|5,BUFFER|p.A507A|c.1521G>A|3	.	.	hmmpanther:PTHR11908,Gene3D:3.30.390.50,Pfam_domain:PF03450,TIGRFAM_domain:TIGR02969,SMART_domains:SM01092,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF55447	.	.	ENSP00000363832	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.496)	.	deleterious(0.01)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.Leu504Trp,ENST00000374700,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;AOX1,non_coding_transcript_exon_variant,,ENST00000485965,;	1752	144	152	SUCCESS
RAPH1	65059	.	GRCh37	2	204304792	204304792	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1187023876	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	103	0	ENST00000319170.5:c.3121C>T	p.Leu1041Phe	p.L1041F	ENST00000319170	NM_213589.1	1041	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS2359.1	3121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGAACTC	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15	.	.	ENSP00000316543	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,missense_variant,p.Leu1093Phe,ENST00000374493,;RAPH1,missense_variant,p.Leu1041Phe,ENST00000319170,;ABI2,3_prime_UTR_variant,,ENST00000295851,;RAPH1,intron_variant,,ENST00000457812,;RAPH1,downstream_gene_variant,,ENST00000418114,;RAPH1,downstream_gene_variant,,ENST00000423104,;RAPH1,downstream_gene_variant,,ENST00000419464,;RAPH1,downstream_gene_variant,,ENST00000374488,;RAPH1,downstream_gene_variant,,ENST00000439222,;RAPH1,downstream_gene_variant,,ENST00000374489,;RAPH1,downstream_gene_variant,,ENST00000453034,;RAPH1,downstream_gene_variant,,ENST00000308091,;ABI2,downstream_gene_variant,,ENST00000464761,;	3421	103	59	SUCCESS
APOB	338	.	GRCh37	2	21231070	21231070	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	151	0	ENST00000233242.1:c.8670C>A	p.Phe2890Leu	p.F2890L	ENST00000233242	NM_000384.2	2890	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS1703.1	8670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGGAAGTA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	COSM1614276	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.034)	.	.	1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Phe2890Leu,ENST00000233242,;	8798	152	129	SUCCESS
KIF1A	547	.	GRCh37	2	241712532	241712532	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs779694088	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	104	0	ENST00000320389.7:c.1179C>G	p.Asp393Glu	p.D393E	ENST00000320389	NM_004321.6	393	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS58757.1	1179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGTCAGT	NONE	.	.	hmmpanther:PTHR24115:SF361,hmmpanther:PTHR24115	.	.	ENSP00000438388	.	13/50	.	.	.	.	.	.	.	.	rs779694088	13/50	PASS	ENST00000498729	Transcript	.	.	ENSG00000130294	888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.29)	.	KIF1A_HUMAN	KIF1A	HGNC	G1UI30_HUMAN,C9JBH1_HUMAN	.	UPI0002065B81	SNV	KIF1A,missense_variant,p.Asp201Glu,ENST00000428768,;KIF1A,missense_variant,p.Asp393Glu,ENST00000498729,;KIF1A,missense_variant,p.Asp393Glu,ENST00000320389,;KIF1A,missense_variant,p.Asp393Glu,ENST00000404283,;KIF1A,upstream_gene_variant,,ENST00000463388,;	1426	104	83	SUCCESS
BIRC6	57448	.	GRCh37	2	32602706	32602706	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	34	153	0	ENST00000421745.2:c.376G>T	p.Val126Phe	p.V126F	ENST00000421745	NM_016252.3	126	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33175.2	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAAGTTATA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	2/74	.	.	.	.	.	.	.	.	.	2/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Val126Phe,ENST00000421745,;BIRC6-AS1,non_coding_transcript_exon_variant,,ENST00000455572,;	510	153	144	SUCCESS
SOX11	6664	.	GRCh37	2	5832837	5832837	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	47	141	0	ENST00000322002.3:c.-17C>A		p.*6*	ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCCAGCCC	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,5_prime_UTR_variant,,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	39	141	110	SUCCESS
AAK1	22848	.	GRCh37	2	69757151	69757151	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs759944504	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	55	195	0	ENST00000409085.4:c.860A>T	p.His287Leu	p.H287L	ENST00000409085	NM_014911.3	287	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS1893.2	860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTGCATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22967:SF9,hmmpanther:PTHR22967,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000386456	.	8/22	.	.	.	.	.	.	.	.	rs759944504	8/22	PASS	ENST00000409085	Transcript	.	.	ENSG00000115977	19679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	AAK1_HUMAN	AAK1	HGNC	.	.	UPI0001881663	SNV	AAK1,missense_variant,p.His287Leu,ENST00000406297,;AAK1,missense_variant,p.His287Leu,ENST00000409085,;AAK1,missense_variant,p.His287Leu,ENST00000409068,;AAK1,downstream_gene_variant,,ENST00000470281,;	1237	195	148	SUCCESS
TGFA	7039	.	GRCh37	2	70742002	70742002	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	90	0	ENST00000295400.6:c.83C>G	p.Ser28Cys	p.S28C	ENST00000295400	NM_001099691.2	28	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS1905.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGACGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000295400	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000295400	Transcript	.	.	ENSG00000163235	11765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.12)	.	TGFA_HUMAN	TGFA	HGNC	Q9UQ91_HUMAN,Q9UIS3_HUMAN,Q6QBS1_HUMAN	.	UPI0000006BEF	SNV	TGFA,missense_variant,p.Ser34Cys,ENST00000444975,;TGFA,missense_variant,p.Ser28Cys,ENST00000445399,;TGFA,missense_variant,p.Ser28Cys,ENST00000295400,;TGFA,missense_variant,p.Ser34Cys,ENST00000450929,;TGFA,missense_variant,p.Ser28Cys,ENST00000394241,;TGFA,missense_variant,p.Ser28Cys,ENST00000418333,;TGFA,non_coding_transcript_exon_variant,,ENST00000474101,;TGFA,non_coding_transcript_exon_variant,,ENST00000460808,;	331	90	76	SUCCESS
DNAH6	1768	.	GRCh37	2	84931193	84931193	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1341597519	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	66	0	ENST00000237449.6:c.8232C>T		p.X2744_splice	ENST00000237449		2744	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46348.1	8232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCCGTAA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000374045	.	51/77	.	.	.	.	.	.	.	.	.	51/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,synonymous_variant,p.%3D,ENST00000237449,;DNAH6,synonymous_variant,p.%3D,ENST00000389394,;	8369	66	57	SUCCESS
COL6A6	131873	.	GRCh37	3	130286894	130286894	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	97	1	ENST00000358511.6:c.1847G>T	p.Cys616Phe	p.C616F	ENST00000358511	NM_001102608.1	616	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS46911.1	1847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTGCAAAG	NONE	.	.	hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Cys616Phe,ENST00000453409,;COL6A6,missense_variant,p.Cys616Phe,ENST00000358511,;	1878	98	73	SUCCESS
MCF2L2	23101	.	GRCh37	3	183014626	183014626	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	17	0	ENST00000328913.3:c.1497+138C>T		p.*499*	ENST00000328913	NM_015078.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3243.1	.	MUTECT|MUSE	.	CCGCCGGAGGG	NONE	.	.	.	.	.	ENSP00000328118	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODIFIER	12/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000414362,;B3GNT5,non_coding_transcript_exon_variant,,ENST00000462559,;B3GNT5,downstream_gene_variant,,ENST00000480551,;MCF2L2,intron_variant,,ENST00000488149,;MCF2L2,upstream_gene_variant,,ENST00000475664,;MCF2L2,downstream_gene_variant,,ENST00000459750,;MCF2L2,downstream_gene_variant,,ENST00000492331,;	.	17	16	SUCCESS
EHHADH	1962	.	GRCh37	3	184910061	184910061	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	9	133	0	ENST00000231887.3:c.2125C>T	p.Leu709=	p.L709=	ENST00000231887	NM_001166415.1	709	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33901.1	2125	MUTECT|MUSE	.	TTTCAGGGGAG	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF00725	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,synonymous_variant,p.%3D,ENST00000456310,;EHHADH,synonymous_variant,p.%3D,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	2201	133	131	SUCCESS
EHHADH	1962	.	GRCh37	3	184910094	184910094	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	9	142	0	ENST00000231887.3:c.2092C>G	p.Leu698Val	p.L698V	ENST00000231887	NM_001166415.1	698	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS33901.1	2092	MUTECT|MUSE	.	TTTTAGATAGT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF00725,Gene3D:1.10.1040.10,Superfamily_domains:SSF48179	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Leu602Val,ENST00000456310,;EHHADH,missense_variant,p.Leu698Val,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	2168	142	123	SUCCESS
EHHADH	1962	.	GRCh37	3	184910328	184910328	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	115	0	ENST00000231887.3:c.1858C>A	p.Leu620Ile	p.L620I	ENST00000231887	NM_001166415.1	620	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS33901.1	1858	MUTECT|MUSE	.	TTCAAGGATCT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF00725,Superfamily_domains:SSF48179	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.231)	.	tolerated(0.14)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Leu524Ile,ENST00000456310,;EHHADH,missense_variant,p.Leu620Ile,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1934	115	97	SUCCESS
EHHADH	1962	.	GRCh37	3	184910329	184910329	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	115	1	ENST00000231887.3:c.1857C>T	p.Ile619=	p.I619=	ENST00000231887	NM_001166415.1	619	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33901.1	1857	MUTECT|MUSE	.	TCAAGGATCTC	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF00725,Superfamily_domains:SSF48179	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,synonymous_variant,p.%3D,ENST00000456310,;EHHADH,synonymous_variant,p.%3D,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1933	116	94	SUCCESS
EHHADH	1962	.	GRCh37	3	184910445	184910445	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	4	120	0	ENST00000231887.3:c.1741C>A	p.Gln581Lys	p.Q581K	ENST00000231887	NM_001166415.1	581	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS33901.1	1741	MUTECT|MUSE	.	ATATTGATACC	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF00725,Gene3D:1.10.1040.10,Superfamily_domains:SSF48179	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.67)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Gln485Lys,ENST00000456310,;EHHADH,missense_variant,p.Gln581Lys,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1817	120	97	SUCCESS
EHHADH	1962	.	GRCh37	3	184910834	184910834	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	10	165	0	ENST00000231887.3:c.1352C>T	p.Ser451Phe	p.S451F	ENST00000231887	NM_001166415.1	451	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS33901.1	1352	MUTECT|MUSE	.	GGGAAGAGTAT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF02737,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Ser355Phe,ENST00000456310,;EHHADH,missense_variant,p.Ser451Phe,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1428	165	153	SUCCESS
EHHADH	1962	.	GRCh37	3	184910910	184910910	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760406357	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	14	178	0	ENST00000231887.3:c.1276C>T	p.His426Tyr	p.H426Y	ENST00000231887	NM_001166415.1	426	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS33901.1	1276	MUTECT|MUSE	.	CAAGTGAGGAC	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF02737,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	rs760406357	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.516)	.	deleterious(0.01)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.His330Tyr,ENST00000456310,;EHHADH,missense_variant,p.His426Tyr,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1352	178	153	SUCCESS
EHHADH	1962	.	GRCh37	3	184910913	184910913	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	13	177	0	ENST00000231887.3:c.1273C>T	p.Pro425Ser	p.P425S	ENST00000231887	NM_001166415.1	425	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33901.1	1273	MUTECT|MUSE	.	GTGAGGACGAT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF02737,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	COSM222886	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Pro329Ser,ENST00000456310,;EHHADH,missense_variant,p.Pro425Ser,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1349	177	151	SUCCESS
EHHADH	1962	.	GRCh37	3	184911086	184911086	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	11	161	0	ENST00000231887.3:c.1100C>T	p.Ser367Leu	p.S367L	ENST00000231887	NM_001166415.1	367	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS33901.1	1100	MUTECT|MUSE	.	CAGATGAAGTT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF02737,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.76)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Ser271Leu,ENST00000456310,;EHHADH,missense_variant,p.Ser367Leu,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	1176	161	180	SUCCESS
RNF123	63891	.	GRCh37	3	49739578	49739578	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs752488889	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	57	160	0	ENST00000327697.6:c.1557+1G>A		p.X519_splice	ENST00000327697	NM_022064.3	519		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33758.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGGTGAGT	NONE	.	.	.	.	.	ENSP00000328287	.	.	.	.	.	.	.	.	.	.	rs752488889	.	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	HIGH	18/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,splice_donor_variant,,ENST00000327697,;RNF123,splice_donor_variant,,ENST00000432042,;RNF123,downstream_gene_variant,,ENST00000454491,;RNF123,splice_donor_variant,,ENST00000487805,;RNF123,splice_donor_variant,,ENST00000457726,;RNF123,splice_donor_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000494005,;RNF123,downstream_gene_variant,,ENST00000443204,;	.	160	153	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64579956	64579956	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	134	0	ENST00000498707.1:c.4334G>A	p.Trp1445Ter	p.W1445*	ENST00000498707	NM_182920.1	1445	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS2903.1	4334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCCATGCA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000418735	.	28/40	.	.	.	.	.	.	.	.	.	28/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,stop_gained,p.Trp501Ter,ENST00000481060,;ADAMTS9,stop_gained,p.Trp1417Ter,ENST00000295903,;ADAMTS9,stop_gained,p.Trp1445Ter,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	4677	134	125	SUCCESS
ACSL1	2180	.	GRCh37	4	185709825	185709825	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	46	0	ENST00000281455.2:c.256T>A	p.Tyr86Asn	p.Y86N	ENST00000281455	NM_001995.2	86	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS3839.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAGAAAT	NONE	.	.	hmmpanther:PTHR24096:SF167,hmmpanther:PTHR24096,Superfamily_domains:SSF56801	.	.	ENSP00000422607	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000515030	Transcript	.	.	ENSG00000151726	3569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	deleterious(0.03)	.	ACSL1_HUMAN	ACSL1	HGNC	B7Z3Z9_HUMAN	.	UPI000004AC12	SNV	ACSL1,missense_variant,p.Tyr86Asn,ENST00000504900,;ACSL1,missense_variant,p.Tyr86Asn,ENST00000504342,;ACSL1,missense_variant,p.Tyr86Asn,ENST00000515030,;ACSL1,missense_variant,p.Tyr86Asn,ENST00000513317,;ACSL1,missense_variant,p.Tyr86Asn,ENST00000507295,;ACSL1,missense_variant,p.Tyr86Asn,ENST00000281455,;ACSL1,5_prime_UTR_variant,,ENST00000437665,;ACSL1,5_prime_UTR_variant,,ENST00000454703,;ACSL1,missense_variant,p.Tyr86Asn,ENST00000506733,;	582	46	35	SUCCESS
APBB2	323	.	GRCh37	4	41015987	41015987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	169	0	ENST00000295974.8:c.448A>G	p.Ile150Val	p.I150V	ENST00000295974	NM_001166050.1	150	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54762.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATCTCAC	NONE	.	.	hmmpanther:PTHR14058:SF11,hmmpanther:PTHR14058	.	.	ENSP00000427211	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000508593	Transcript	.	.	ENSG00000163697	582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.52)	.	APBB2_HUMAN	APBB2	HGNC	Q5I0G1_HUMAN,D6RGD4_HUMAN,D6RDY3_HUMAN,D6RD19_HUMAN,D6RB55_HUMAN,D6RB00_HUMAN,D6RAJ4_HUMAN,D6RAE0_HUMAN,A8K1C3_HUMAN	.	UPI0001B8E1D4	SNV	APBB2,missense_variant,p.Ile150Val,ENST00000513140,;APBB2,missense_variant,p.Ile150Val,ENST00000295974,;APBB2,missense_variant,p.Ile150Val,ENST00000506352,;APBB2,missense_variant,p.Ile140Val,ENST00000513611,;APBB2,missense_variant,p.Ile150Val,ENST00000508593,;APBB2,missense_variant,p.Ile133Val,ENST00000509446,;APBB2,downstream_gene_variant,,ENST00000508707,;APBB2,downstream_gene_variant,,ENST00000503503,;APBB2,downstream_gene_variant,,ENST00000503264,;APBB2,downstream_gene_variant,,ENST00000508676,;APBB2,non_coding_transcript_exon_variant,,ENST00000509475,;	992	170	135	SUCCESS
C4orf6	0	.	GRCh37	4	5527032	5527032	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	80	0	ENST00000195455.2:c.-26C>T		p.*9*	ENST00000195455	NM_005750.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3381.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTCCTGGG	NONE	.	.	.	.	.	ENSP00000195455	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000195455	Transcript	.	.	ENSG00000082929	13716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD006_HUMAN	C4orf6	HGNC	.	.	UPI0000127329	SNV	C4orf6,5_prime_UTR_variant,,ENST00000195455,;C4orf6,upstream_gene_variant,,ENST00000505296,;C4orf6,intron_variant,,ENST00000515342,;C4orf6,upstream_gene_variant,,ENST00000504943,;	150	80	60	SUCCESS
HMX1	3166	.	GRCh37	4	8869814	8869814	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	28	0	ENST00000400677.3:c.652C>A	p.Leu218Met	p.L218M	ENST00000400677	NM_018942.2	218	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS47018.1	652	MUTECT|MUSE	.	TTCCAGCTGGA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24325:SF16,hmmpanther:PTHR24325,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000383516	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400677	Transcript	1	.	ENSG00000215612	5017	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	HMX1_HUMAN	HMX1	HGNC	.	.	UPI00004804DE	SNV	HMX1,missense_variant,p.Leu218Met,ENST00000400677,;HMX1,intron_variant,,ENST00000506970,;	855	28	18	SUCCESS
IDUA	3425	.	GRCh37	4	994398	994398	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	76	205	0	ENST00000247933.4:c.300-2A>T		p.X100_splice	ENST00000247933	NM_000203.3	100		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3343.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGGGGG	NONE	.	.	.	.	.	ENSP00000247933	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000247933	Transcript	1	.	ENSG00000127415	5391	.	.	HIGH	2/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDUA_HUMAN	IDUA	HGNC	J9QQV7_HUMAN,D6REB5_HUMAN	.	UPI00004571D0	SNV	IDUA,splice_acceptor_variant,,ENST00000514224,;IDUA,splice_acceptor_variant,,ENST00000504568,;IDUA,splice_acceptor_variant,,ENST00000509948,;IDUA,splice_acceptor_variant,,ENST00000453894,;IDUA,splice_acceptor_variant,,ENST00000247933,;IDUA,splice_acceptor_variant,,ENST00000502910,;IDUA,splice_acceptor_variant,,ENST00000514192,;IDUA,splice_acceptor_variant,,ENST00000514698,;IDUA,splice_acceptor_variant,,ENST00000508168,;IDUA,splice_acceptor_variant,,ENST00000506561,;IDUA,upstream_gene_variant,,ENST00000514417,;IDUA,upstream_gene_variant,,ENST00000502829,;	.	205	186	SUCCESS
AP3S1	1176	.	GRCh37	5	115249063	115249063	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	101	0	ENST00000316788.7:c.458G>C	p.Gly153Ala	p.G153A	ENST00000316788	NM_001284.2	153	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS4123.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGCTTAG	NONE	.	.	hmmpanther:PTHR11753:SF12,hmmpanther:PTHR11753,PIRSF_domain:PIRSF015588	.	.	ENSP00000325369	.	6/6	.	.	.	.	.	.	.	.	COSM3607723	6/6	PASS	ENST00000316788	Transcript	.	.	ENSG00000177879	2013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.025)	.	tolerated(0.11)	1	AP3S1_HUMAN	AP3S1	HGNC	.	.	UPI000002236E	SNV	AP3S1,missense_variant,p.Gly153Ala,ENST00000316788,;AP3S1,non_coding_transcript_exon_variant,,ENST00000505423,;AP3S1,3_prime_UTR_variant,,ENST00000506430,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;	1015	101	83	SUCCESS
CEP120	153241	.	GRCh37	5	122725672	122725672	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	91	304	0	ENST00000306467.5:c.1201G>A	p.Glu401Lys	p.E401K	ENST00000306467		401	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4134.2	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCTGTTG	NONE	.	.	hmmpanther:PTHR21574	.	.	ENSP00000303058	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000306467	Transcript	1	.	ENSG00000168944	26690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.16)	.	CE120_HUMAN	CEP120	HGNC	F8VRV0_HUMAN,D6REX9_HUMAN,D6RC69_HUMAN	.	UPI0000D79C73	SNV	CEP120,missense_variant,p.Glu375Lys,ENST00000508442,;CEP120,missense_variant,p.Glu401Lys,ENST00000306467,;CEP120,missense_variant,p.Glu401Lys,ENST00000328236,;CEP120,missense_variant,p.Glu375Lys,ENST00000306481,;CEP120,downstream_gene_variant,,ENST00000395431,;CEP120,3_prime_UTR_variant,,ENST00000513565,;CEP120,3_prime_UTR_variant,,ENST00000508138,;CEP120,downstream_gene_variant,,ENST00000503049,;	1506	304	254	SUCCESS
ANKHD1	54882	.	GRCh37	5	139781433	139781433	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	31	0	ENST00000360839.2:c.-120G>A		p.*40*	ENST00000360839	NM_017747.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4224.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGGCGCTG	NONE	.	.	.	.	.	ENSP00000297183	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,5_prime_UTR_variant,,ENST00000360839,;ANKHD1,5_prime_UTR_variant,,ENST00000297183,;ANKHD1,upstream_gene_variant,,ENST00000421134,;ANKHD1,upstream_gene_variant,,ENST00000394723,;ANKHD1,upstream_gene_variant,,ENST00000511151,;ANKHD1,upstream_gene_variant,,ENST00000394722,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000532219,;RNU4-14P,upstream_gene_variant,,ENST00000410858,;CTC-329D1.2,upstream_gene_variant,,ENST00000507521,;	5	31	21	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222268	140222268	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	121	360	0	ENST00000531613.1:c.1362G>A	p.Ala454=	p.A454=	ENST00000531613	NM_018911.2	454	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54919.1	1362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGTTCGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	COSM1433919,COSM1433918	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,synonymous_variant,p.%3D,ENST00000531613,;PCDHA8,synonymous_variant,p.%3D,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	1362	360	298	SUCCESS
TLX3	30012	.	GRCh37	5	170736448	170736448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	21	0	ENST00000296921.5:c.79C>A	p.Pro27Thr	p.P27T	ENST00000296921	NM_021025.2	27	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34288.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCCGGAC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	.	.	ENSP00000296921	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.15)	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,missense_variant,p.Pro27Thr,ENST00000296921,;	161	21	24	SUCCESS
UNC5A	90249	.	GRCh37	5	176305056	176305056	+	synonymous_variant	Silent	SNP	G	G	A	rs1380046859	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	39	81	0	ENST00000329542.4:c.1797G>A	p.Ala599=	p.A599=	ENST00000329542	NM_133369.2	599	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34299.1	1797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCGCCGGT	NONE	.	.	hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,Low_complexity_(Seg):seg	.	.	ENSP00000332737	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000329542	Transcript	.	.	ENSG00000113763	12567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC5A_HUMAN	UNC5A	HGNC	.	.	UPI0000047F37	SNV	UNC5A,synonymous_variant,p.%3D,ENST00000329542,;UNC5A,synonymous_variant,p.%3D,ENST00000261961,;HK3,downstream_gene_variant,,ENST00000292432,;UNC5A,downstream_gene_variant,,ENST00000509580,;HK3,downstream_gene_variant,,ENST00000514058,;UNC5A,downstream_gene_variant,,ENST00000513890,;HK3,downstream_gene_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000514666,;	2071	81	71	SUCCESS
SKP2	6502	.	GRCh37	5	36152875	36152875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	61	0	ENST00000274255.6:c.11A>G	p.Lys4Arg	p.K4R	ENST00000274255	NM_005983.3	4	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS3916.1	11	RADIA|MUSE|VARSCANS	.	CAGGAAGCACC	NONE	.	.	hmmpanther:PTHR23125:SF34,hmmpanther:PTHR23125	.	.	ENSP00000274255	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000274255	Transcript	.	.	ENSG00000145604	10901	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.32)	.	SKP2_HUMAN	SKP2	HGNC	.	.	UPI0000073D61	SNV	SKP2,missense_variant,p.Lys4Arg,ENST00000508514,;SKP2,missense_variant,p.Lys4Arg,ENST00000274254,;SKP2,missense_variant,p.Lys4Arg,ENST00000274255,;SKP2,missense_variant,p.Lys4Arg,ENST00000513151,;SKP2,splice_region_variant,,ENST00000546211,;LMBRD2,upstream_gene_variant,,ENST00000296603,;MIR580,upstream_gene_variant,,ENST00000385023,;RNU6-1305P,upstream_gene_variant,,ENST00000364353,;SKP2,missense_variant,p.Lys4Arg,ENST00000513263,;SKP2,missense_variant,p.Lys4Arg,ENST00000509692,;SKP2,upstream_gene_variant,,ENST00000504386,;	207	61	39	SUCCESS
C7	730	.	GRCh37	5	40981550	40981550	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	62	188	0	ENST00000313164.9:c.2407A>T	p.Ser803Cys	p.S803C	ENST00000313164	NM_000587.2	803	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS47201.1	2407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTAGCATT	NONE	.	.	SMART_domains:SM00057	.	.	ENSP00000322061	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000313164	Transcript	1	.	ENSG00000112936	1346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	deleterious(0.03)	.	CO7_HUMAN	C7	HGNC	.	.	UPI000020CA08	SNV	C7,missense_variant,p.Ser803Cys,ENST00000313164,;C7,downstream_gene_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000464864,;C7,downstream_gene_variant,,ENST00000513922,;	2766	188	136	SUCCESS
FLOT1	10211	.	GRCh37	6	30709635	30709635	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	80	0	ENST00000376389.3:c.53G>A	p.Arg18Gln	p.R18Q	ENST00000376389	NM_005803.2	18	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS4688.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCGGCAG	NONE	.	.	hmmpanther:PTHR13806:SF18,hmmpanther:PTHR13806,Pfam_domain:PF01145	.	.	ENSP00000365569	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000376389	Transcript	.	.	ENSG00000137312	3757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.29)	.	FLOT1_HUMAN	FLOT1	HGNC	Q5ST80_HUMAN,A2AB13_HUMAN,A2AB12_HUMAN,A2AB10_HUMAN	.	UPI000000D73F	SNV	FLOT1,missense_variant,p.Arg18Gln,ENST00000416018,;FLOT1,missense_variant,p.Arg18Gln,ENST00000438162,;FLOT1,missense_variant,p.Arg18Gln,ENST00000376389,;FLOT1,missense_variant,p.Arg18Gln,ENST00000456573,;FLOT1,missense_variant,p.Arg18Gln,ENST00000454845,;FLOT1,missense_variant,p.Arg18Gln,ENST00000445853,;FLOT1,intron_variant,,ENST00000418160,;FLOT1,intron_variant,,ENST00000413165,;IER3,downstream_gene_variant,,ENST00000376377,;IER3,downstream_gene_variant,,ENST00000259874,;XXbac-BPG252P9.10,upstream_gene_variant,,ENST00000607333,;FLOT1,non_coding_transcript_exon_variant,,ENST00000470643,;FLOT1,non_coding_transcript_exon_variant,,ENST00000484693,;FLOT1,non_coding_transcript_exon_variant,,ENST00000484168,;FLOT1,upstream_gene_variant,,ENST00000487376,;FLOT1,upstream_gene_variant,,ENST00000476729,;	274	80	68	SUCCESS
UBR2	23304	.	GRCh37	6	42585071	42585071	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	57	149	0	ENST00000372899.1:c.1276A>G	p.Thr426Ala	p.T426A	ENST00000372899	NM_015255.2	426	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS4870.1	1276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTACTCTG	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	11/47	.	.	.	.	.	.	.	.	.	11/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.401)	.	deleterious(0)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Thr426Ala,ENST00000372899,;UBR2,intron_variant,,ENST00000372901,;UBR2,intron_variant,,ENST00000372903,;UBR2,intron_variant,,ENST00000372883,;	1534	149	135	SUCCESS
GFRAL	389400	.	GRCh37	6	55198738	55198738	+	synonymous_variant	Silent	SNP	A	A	G	rs777786050	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	31	0	ENST00000340465.2:c.312A>G	p.Lys104=	p.K104=	ENST00000340465	NM_207410.2	104	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS4957.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAAATCAGG	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1	.	.	ENSP00000343636	.	3/9	.	.	.	.	.	.	.	.	rs777786050	3/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,synonymous_variant,p.%3D,ENST00000340465,;	398	31	20	SUCCESS
SSMEM1	136263	.	GRCh37	7	129847775	129847775	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	56	182	0	ENST00000297819.3:c.25T>G	p.Trp9Gly	p.W9G	ENST00000297819	NM_145268.3	9	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS5816.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTGGGAG	NONE	.	.	hmmpanther:PTHR31822:SF1,hmmpanther:PTHR31822,Pfam_domain:PF15468	.	.	ENSP00000297819	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000297819	Transcript	.	.	ENSG00000165120	29580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious(0.01)	.	SSMM1_HUMAN	SSMEM1	HGNC	A4D1L0_HUMAN	.	UPI00000706B0	SNV	SSMEM1,missense_variant,p.Trp9Gly,ENST00000297819,;TMEM209,upstream_gene_variant,,ENST00000336804,;TMEM209,upstream_gene_variant,,ENST00000473456,;TMEM209,upstream_gene_variant,,ENST00000397622,;TMEM209,upstream_gene_variant,,ENST00000471077,;TMEM209,upstream_gene_variant,,ENST00000471985,;TMEM209,upstream_gene_variant,,ENST00000462753,;RP11-775D22.3,downstream_gene_variant,,ENST00000483283,;	76	182	148	SUCCESS
MRPS33	51650	.	GRCh37	7	140710231	140710231	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759042939	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	164	1	ENST00000324787.5:c.203T>C	p.Leu68Pro	p.L68P	ENST00000324787	NM_053035.2	68	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS5864.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAAGAAAT	NONE	byFrequency	.	hmmpanther:PTHR13362,hmmpanther:PTHR13362:SF2,Pfam_domain:PF08293	.	.	ENSP00000376732	.	2/3	.	.	.	.	.	.	.	.	rs759042939	2/3	PASS	ENST00000393008	Transcript	.	.	ENSG00000090263	16634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0.01)	.	RT33_HUMAN	MRPS33	HGNC	A4D1T3_HUMAN,C9JBY7_HUMAN	.	UPI00001352B2	SNV	MRPS33,missense_variant,p.Leu68Pro,ENST00000496958,;MRPS33,missense_variant,p.Leu68Pro,ENST00000324787,;MRPS33,missense_variant,p.Leu58Pro,ENST00000467334,;MRPS33,missense_variant,p.Leu68Pro,ENST00000469351,;MRPS33,missense_variant,p.Leu68Pro,ENST00000393008,;MRPS33,intron_variant,,ENST00000484502,;MRPS33,upstream_gene_variant,,ENST00000472343,;MRPS33,non_coding_transcript_exon_variant,,ENST00000485202,;MRPS33,non_coding_transcript_exon_variant,,ENST00000496641,;	359	165	126	SUCCESS
ABCB5	340273	.	GRCh37	7	20706379	20706379	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	74	0	ENST00000404938.2:c.1707+8080T>A		p.*569*	ENST00000404938	NM_001163941.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55090.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTAGAAA	NONE	.	.	.	.	.	ENSP00000384881	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODIFIER	14/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,splice_region_variant,,ENST00000406935,;ABCB5,intron_variant,,ENST00000258738,;ABCB5,intron_variant,,ENST00000404938,;	.	74	76	SUCCESS
HOXA9	3205	.	GRCh37	7	27204710	27204710	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368757601	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	50	0	ENST00000343483.6:c.367G>A	p.Gly123Ser	p.G123S	ENST00000343483	NM_152739.3	123	Ggc/Agc	0	A:0.0002	.	.	.	.	T	G/S	protein_coding	YES	CCDS5409.1	367	RADIA|VARSCANS	.	CAAGCCCGCGA	NONE	byCluster	.	hmmpanther:PTHR24325:SF9,hmmpanther:PTHR24325,Pfam_domain:PF04617,PIRSF_domain:PIRSF037109	.	A:0	ENSP00000343619	.	1/2	.	.	.	.	.	.	.	.	rs368757601	1/2	PASS	ENST00000343483	Transcript	.	.	ENSG00000078399	5109	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.381)	.	tolerated(0.08)	.	HXA9_HUMAN	HOXA9	HGNC	.	.	UPI0000000CA4	SNV	HOXA9,missense_variant,p.Gly123Ser,ENST00000343483,;RP1-170O19.20,intron_variant,,ENST00000470747,;HOXA9,intron_variant,,ENST00000396345,;MIR196B,downstream_gene_variant,,ENST00000384852,;HOXA10-AS,upstream_gene_variant,,ENST00000519694,;HOXA10-AS,upstream_gene_variant,,ENST00000523790,;HOXA10-AS,upstream_gene_variant,,ENST00000519935,;HOXA9,intron_variant,,ENST00000489695,;HOXA9,intron_variant,,ENST00000497089,;HOXA9,intron_variant,,ENST00000487384,;RP1-170O19.20,intron_variant,,ENST00000465941,;	440	50	34	SUCCESS
NT5C3A	51251	.	GRCh37	7	33054407	33054407	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	44	0	ENST00000242210.7:c.946G>T	p.Asp316Tyr	p.D316Y	ENST00000242210	NM_001002010.2	316	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34616.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATCATAAG	NONE	.	.	hmmpanther:PTHR13045,TIGRFAM_domain:TIGR01544,Pfam_domain:PF05822,Superfamily_domains:SSF56784	.	.	ENSP00000242210	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000242210	Transcript	.	.	ENSG00000122643	17820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	5NT3A_HUMAN	NT5C3A	HGNC	C9K084_HUMAN	.	UPI0000037BCB	SNV	NT5C3A,missense_variant,p.Asp277Tyr,ENST00000405342,;NT5C3A,missense_variant,p.Asp265Tyr,ENST00000381626,;NT5C3A,missense_variant,p.Asp265Tyr,ENST00000409467,;NT5C3A,missense_variant,p.Asp277Tyr,ENST00000396152,;NT5C3A,missense_variant,p.Asp311Tyr,ENST00000610140,;NT5C3A,missense_variant,p.Asp316Tyr,ENST00000242210,;AVL9,intron_variant,,ENST00000404479,;NT5C3A,downstream_gene_variant,,ENST00000409787,;NT5C3A,3_prime_UTR_variant,,ENST00000456458,;NT5C3A,non_coding_transcript_exon_variant,,ENST00000473083,;	1023	44	43	SUCCESS
EGFR	1956	.	GRCh37	7	55273125	55273125	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	43	132	0	ENST00000275493.2:c.3448A>T	p.Thr1150Ser	p.T1150S	ENST00000275493	NM_005228.3	1150	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS5514.1	3448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCACATTC	BUFFER|p.S1153I|c.3458G>T|3	.	.	PIRSF_domain:PIRSF000619	.	.	ENSP00000275493	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.2)	.	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,missense_variant,p.Thr1097Ser,ENST00000454757,;EGFR,missense_variant,p.Thr1150Ser,ENST00000275493,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000485503,;	3625	132	121	SUCCESS
PCLO	27445	.	GRCh37	7	82580517	82580517	+	synonymous_variant	Silent	SNP	T	T	G	rs776093952	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	49	168	0	ENST00000333891.9:c.9387A>C	p.Ser3129=	p.S3129=	ENST00000333891	NM_033026.5	3129	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47630.1	9387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAATGAAGT	NONE	byFrequency	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	6/25	.	.	.	.	.	.	.	.	rs776093952	6/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	9725	168	130	SUCCESS
TAF2	6873	.	GRCh37	8	120807828	120807828	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	44	150	0	ENST00000378164.2:c.1135G>A	p.Gly379Arg	p.G379R	ENST00000378164	NM_003184.3	379	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34937.1	1135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCATAGA	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR15137	.	.	ENSP00000367406	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000378164	Transcript	1	.	ENSG00000064313	11536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TAF2_HUMAN	TAF2	HGNC	.	.	UPI0000210507	SNV	TAF2,missense_variant,p.Gly72Arg,ENST00000523904,;TAF2,missense_variant,p.Gly379Arg,ENST00000378164,;TAF2,upstream_gene_variant,,ENST00000523734,;	1434	151	102	SUCCESS
STAU2	27067	.	GRCh37	8	74600947	74600947	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	45	192	1	ENST00000524300.1:c.216A>G	p.Glu72=	p.E72=	ENST00000524300	NM_001164381.1	72	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS55247.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGATTCAGT	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF60,hmmpanther:PTHR10910,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000428756	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000524300	Transcript	.	.	ENSG00000040341	11371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	STAU2	HGNC	E5RJN7_HUMAN	.	UPI000013D271	SNV	STAU2,synonymous_variant,p.%3D,ENST00000521447,;STAU2,synonymous_variant,p.%3D,ENST00000355780,;STAU2,synonymous_variant,p.%3D,ENST00000521736,;STAU2,synonymous_variant,p.%3D,ENST00000522509,;STAU2,synonymous_variant,p.%3D,ENST00000517542,;STAU2,synonymous_variant,p.%3D,ENST00000521727,;STAU2,synonymous_variant,p.%3D,ENST00000521419,;STAU2,synonymous_variant,p.%3D,ENST00000522695,;STAU2,synonymous_variant,p.%3D,ENST00000524300,;STAU2,synonymous_variant,p.%3D,ENST00000524104,;STAU2,synonymous_variant,p.%3D,ENST00000519961,;STAU2,intron_variant,,ENST00000521451,;STAU2,intron_variant,,ENST00000521210,;STAU2,intron_variant,,ENST00000523558,;STAU2,intron_variant,,ENST00000518502,;STAU2,intron_variant,,ENST00000518767,;RP11-463D19.1,intron_variant,,ENST00000533978,;STAU2,non_coding_transcript_exon_variant,,ENST00000520872,;STAU2,non_coding_transcript_exon_variant,,ENST00000522962,;STAU2,non_coding_transcript_exon_variant,,ENST00000521845,;STAU2,non_coding_transcript_exon_variant,,ENST00000521293,;STAU2,intron_variant,,ENST00000524191,;STAU2,intron_variant,,ENST00000520945,;STAU2,downstream_gene_variant,,ENST00000522061,;STAU2,downstream_gene_variant,,ENST00000519818,;STAU2,synonymous_variant,p.%3D,ENST00000518981,;RP11-463D19.2,3_prime_UTR_variant,,ENST00000358757,;STAU2,non_coding_transcript_exon_variant,,ENST00000524113,;	567	193	137	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88885313	88885313	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	45	207	0	ENST00000319675.3:c.887T>C	p.Leu296Pro	p.L296P	ENST00000319675	NM_152418.3	296	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6245.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGCTTG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	SNV	DCAF4L2,missense_variant,p.Leu296Pro,ENST00000319675,;	984	207	176	SUCCESS
TSC1	7248	.	GRCh37	9	135782757	135782757	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	53	155	0	ENST00000298552.3:c.1264G>T	p.Glu422Ter	p.E422*	ENST00000298552	NM_001162426.1	422	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6956.1	1264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCCTGAA	NONE	.	.	hmmpanther:PTHR15154,Pfam_domain:PF04388	.	.	ENSP00000298552	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,stop_gained,p.Glu422Ter,ENST00000298552,;TSC1,stop_gained,p.Glu371Ter,ENST00000545250,;TSC1,stop_gained,p.Glu422Ter,ENST00000440111,;TSC1,downstream_gene_variant,,ENST00000403810,;TSC1,downstream_gene_variant,,ENST00000493467,;	1486	155	82	SUCCESS
FAM205A	259308	.	GRCh37	9	34725816	34725816	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	206	45	183	0	ENST00000378788.3:c.1421T>A	p.Leu474His	p.L474H	ENST00000378788	NM_001141917.1	474	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS55305.1	1421	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGAGCTCA	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4,Pfam_domain:PF14650,Pfam_domain:PF14650	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.923)	.	tolerated(0.18)	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,missense_variant,p.Leu474His,ENST00000378788,;	1461	183	252	SUCCESS
FAM205B	0	.	GRCh37	9	34834878	34834878	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	100	0	ENST00000399773.6:n.1423T>A		p.*475*	ENST00000399773				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE	.	AGGAGAGATCA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	1423	100	127	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39099959	39099959	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779868839	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	95	229	0	ENST00000297668.6:c.2944G>T	p.Val982Phe	p.V982F	ENST00000297668	NM_033655.3	982	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS6616.1	2944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGACCCCCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:2gy5A03,SMART_domains:SM00181,Superfamily_domains:SSF49899	.	.	ENSP00000297668	.	18/24	.	.	.	.	.	.	.	.	rs763585044,rs779868839	18/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.89)	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,missense_variant,p.Val894Phe,ENST00000358144,;CNTNAP3,missense_variant,p.Val982Phe,ENST00000297668,;CNTNAP3,intron_variant,,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000483502,;CNTNAP3,downstream_gene_variant,,ENST00000495573,;CNTNAP3,downstream_gene_variant,,ENST00000448573,;CNTNAP3,downstream_gene_variant,,ENST00000443583,;	3018	229	215	SUCCESS
ARMCX1	51309	.	GRCh37	X	100808329	100808329	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	87	0	ENST00000372829.3:c.416C>A	p.Ala139Glu	p.A139E	ENST00000372829	NM_016608.1	139	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS14487.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCACCGA	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF14	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	deleterious_low_confidence(0)	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,missense_variant,p.Ala139Glu,ENST00000372829,;	787	87	64	SUCCESS
FAM58A	0	.	GRCh37	X	152857988	152857988	+	synonymous_variant	Silent	SNP	G	G	T	rs373107311	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	71	150	0	ENST00000406277.2:c.627C>A	p.Val209=	p.V209=	ENST00000406277	NM_152274.4	209	gtC/gtA	0	A:0.0003	.	.	.	.	T	V	protein_coding	YES	.	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGACCTC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF60,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	A:0	ENSP00000384396	.	6/7	.	.	.	.	.	.	.	.	rs373107311	6/7	PASS	ENST00000406277	Transcript	.	.	ENSG00000147382	28434	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM58A	HGNC	D3DWU4_HUMAN,K7EM37_HUMAN,J3QT30_HUMAN	.	UPI0001AE6FCF	SNV	FAM58A,synonymous_variant,p.%3D,ENST00000406277,;FAM58A,synonymous_variant,p.%3D,ENST00000440428,;FAM58A,intron_variant,,ENST00000429336,;FAM58A,downstream_gene_variant,,ENST00000482182,;FAM58A,non_coding_transcript_exon_variant,,ENST00000276345,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370173,;FAM58A,non_coding_transcript_exon_variant,,ENST00000470284,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370175,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370171,;FAM58A,intron_variant,,ENST00000428722,;FAM58A,downstream_gene_variant,,ENST00000465867,;	730	150	143	SUCCESS
GPR158	57512	.	GRCh37	10	25883311	25883311	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	129	0	ENST00000376351.3:c.1983G>T	p.Leu661Phe	p.L661F	ENST00000376351	NM_020752.2	661	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31166.1	1983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTGCTTTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003	.	.	ENSP00000365529	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Leu661Phe,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	2342	130	71	SUCCESS
ASAH2	56624	.	GRCh37	10	52005051	52005051	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	164	333	0	ENST00000395526.4:c.291G>T	p.Gln97His	p.Q97H	ENST00000395526	NM_019893.2	97	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7239.2	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCTGAAA	NONE	.	.	hmmpanther:PTHR12670	.	.	ENSP00000378897	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000395526	Transcript	.	.	ENSG00000188611	18860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.438)	.	deleterious_low_confidence(0.01)	.	ASAH2_HUMAN	ASAH2	HGNC	.	.	UPI00004042A7	SNV	ASAH2,missense_variant,p.Gln78His,ENST00000329428,;ASAH2,missense_variant,p.Gln97His,ENST00000447815,;ASAH2,missense_variant,p.Gln97His,ENST00000395526,;ASAH2,upstream_gene_variant,,ENST00000443575,;	291	333	312	SUCCESS
ASB13	79754	.	GRCh37	10	5694860	5694860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	30	0	ENST00000357700.6:c.197G>T	p.Arg66Leu	p.R66L	ENST00000357700	NM_024701.3	66	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7070.1	197	RADIA|VARSCANS	.	CACACCGCGCC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24196,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000350331	.	2/6	.	.	.	.	.	.	.	.	.	2/6	oxog	ENST00000357700	Transcript	.	.	ENSG00000196372	19765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.087)	.	tolerated(0.2)	.	ASB13_HUMAN	ASB13	HGNC	.	.	UPI00001260DE	SNV	ASB13,missense_variant,p.Arg66Leu,ENST00000357700,;ASB13,non_coding_transcript_exon_variant,,ENST00000479033,;ASB13,upstream_gene_variant,,ENST00000482921,;ASB13,missense_variant,p.Arg66Leu,ENST00000459912,;	224	30	28	SUCCESS
MYOD1	4654	.	GRCh37	11	17741511	17741511	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1177547598	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	28	0	ENST00000250003.3:c.182A>G	p.Glu61Gly	p.E61G	ENST00000250003	NM_002478.4	61	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS7826.1	182	MUTECT|MUSE	.	CGAAGAGCACT	NONE	.	.	hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2,Pfam_domain:PF01586,SMART_domains:SM00520	.	.	ENSP00000250003	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000250003	Transcript	.	.	ENSG00000129152	7611	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.533)	.	tolerated(0.11)	.	MYOD1_HUMAN	MYOD1	HGNC	.	.	UPI000007280C	SNV	MYOD1,missense_variant,p.Glu61Gly,ENST00000250003,;	397	28	22	SUCCESS
ATG13	9776	.	GRCh37	11	46679130	46679130	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780215956	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	63	159	1	ENST00000359513.4:c.653G>A	p.Arg218His	p.R218H	ENST00000359513		218	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS55760.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGTCCCT	NONE	byFrequency	.	hmmpanther:PTHR13430,hmmpanther:PTHR13430:SF2	.	.	ENSP00000432412	.	9/18	.	.	.	.	.	.	.	.	rs780215956	9/18	PASS	ENST00000528494	Transcript	.	.	ENSG00000175224	29091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	ATG13_HUMAN	ATG13	HGNC	J9JIF6_HUMAN,J3QRL1_HUMAN,J3QR83_HUMAN,J3QR16_HUMAN,J3KST9_HUMAN,J3KRU6_HUMAN,E9PPR2_HUMAN,B7Z9G0_HUMAN	.	UPI000153D6E4	SNV	ATG13,missense_variant,p.Arg218His,ENST00000528494,;ATG13,missense_variant,p.Arg139His,ENST00000530500,;ATG13,missense_variant,p.Arg218His,ENST00000312040,;ATG13,missense_variant,p.Arg218His,ENST00000451945,;ATG13,missense_variant,p.Arg218His,ENST00000526508,;ATG13,missense_variant,p.Arg218His,ENST00000359513,;ATG13,missense_variant,p.Arg218His,ENST00000524625,;ATG13,missense_variant,p.Arg218His,ENST00000529655,;ATG13,missense_variant,p.Arg218His,ENST00000434074,;ATG13,downstream_gene_variant,,ENST00000395549,;ATG13,upstream_gene_variant,,ENST00000531933,;ATG13,non_coding_transcript_exon_variant,,ENST00000525850,;ATG13,non_coding_transcript_exon_variant,,ENST00000528984,;ATG13,non_coding_transcript_exon_variant,,ENST00000534610,;ATG13,non_coding_transcript_exon_variant,,ENST00000528704,;ATG13,non_coding_transcript_exon_variant,,ENST00000527907,;ATG13,downstream_gene_variant,,ENST00000528145,;ATG13,upstream_gene_variant,,ENST00000533316,;	957	161	156	SUCCESS
OR5D14	219436	.	GRCh37	11	55563794	55563794	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	268	0	ENST00000335605.1:c.763G>T	p.Gly255Trp	p.G255W	ENST00000335605	NM_001004735.1	255	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS31508.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGGGACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0)	.	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.Gly255Trp,ENST00000335605,;	763	268	113	SUCCESS
OR5D14	219436	.	GRCh37	11	55563795	55563795	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	47	260	0	ENST00000335605.1:c.764G>T	p.Gly255Val	p.G255V	ENST00000335605	NM_001004735.1	255	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31508.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGGACCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0.01)	.	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.Gly255Val,ENST00000335605,;	764	261	114	SUCCESS
ESRRA	2101	.	GRCh37	11	64082291	64082291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	54	0	ENST00000000442.6:c.650G>T	p.Gly217Val	p.G217V	ENST00000000442		217	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41667.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGCCCTG	NONE	.	.	hmmpanther:PTHR24084,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Superfamily_domains:SSF48508	.	.	ENSP00000384851	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000405666	Transcript	.	.	ENSG00000173153	3471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ERR1_HUMAN	ESRRA	HGNC	Q96I02_HUMAN,Q96F89_HUMAN,Q569H8_HUMAN,F5H0E9_HUMAN,F5GWT5_HUMAN	.	UPI0000167B87	SNV	ESRRA,missense_variant,p.Gly217Val,ENST00000405666,;ESRRA,missense_variant,p.Gly217Val,ENST00000000442,;ESRRA,missense_variant,p.Gly216Val,ENST00000406310,;ESRRA,missense_variant,p.Gly74Val,ENST00000539594,;ESRRA,intron_variant,,ENST00000545035,;TRMT112,downstream_gene_variant,,ENST00000544844,;PRDX5,upstream_gene_variant,,ENST00000265462,;TRMT112,downstream_gene_variant,,ENST00000535750,;TRMT112,downstream_gene_variant,,ENST00000308774,;PRDX5,upstream_gene_variant,,ENST00000352435,;PRDX5,upstream_gene_variant,,ENST00000347941,;TRMT112,downstream_gene_variant,,ENST00000539854,;TRMT112,downstream_gene_variant,,ENST00000535126,;ESRRA,intron_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,;	884	54	58	SUCCESS
RNASEH2C	84153	.	GRCh37	11	65488115	65488115	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs773527127	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	26	0	ENST00000308418.4:c.115G>C	p.Asp39His	p.D39H	ENST00000308418	NM_032193.3	39	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS8111.1	115	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCCGTCCACCG	NONE	byFrequency	.	Pfam_domain:PF08615,hmmpanther:PTHR21726	.	.	ENSP00000308193	.	1/4	.	.	.	.	.	.	.	.	rs773527127,CM102544	1/4	PASS	ENST00000308418	Transcript	.	.	ENSG00000172922	24116	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.396)	.	deleterious(0.01)	.	RNH2C_HUMAN	RNASEH2C	HGNC	E9PKP0_HUMAN	.	UPI000000D799	SNV	RNASEH2C,missense_variant,p.Asp39His,ENST00000527610,;RNASEH2C,missense_variant,p.Asp39His,ENST00000308418,;RNASEH2C,5_prime_UTR_variant,,ENST00000528220,;KAT5,downstream_gene_variant,,ENST00000530446,;KAT5,downstream_gene_variant,,ENST00000377046,;KAT5,downstream_gene_variant,,ENST00000533596,;KAT5,downstream_gene_variant,,ENST00000352980,;KAT5,downstream_gene_variant,,ENST00000341318,;KAT5,downstream_gene_variant,,ENST00000534650,;RNASEH2C,missense_variant,p.Asp33His,ENST00000531596,;RNASEH2C,non_coding_transcript_exon_variant,,ENST00000530192,;KAT5,downstream_gene_variant,,ENST00000533441,;RNASEH2C,upstream_gene_variant,,ENST00000533698,;KAT5,downstream_gene_variant,,ENST00000525600,;RNASEH2C,upstream_gene_variant,,ENST00000534482,;	304	26	17	SUCCESS
TPP1	1200	.	GRCh37	11	6640088	6640088	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753620806	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	44	0	ENST00000299427.6:c.148A>G	p.Thr50Ala	p.T50A	ENST00000299427	NM_000391.3	50	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7770.1	148	RADIA|VARSCANS	.	AAAGGTGAGAC	NONE	.	.	Superfamily_domains:SSF54897,SMART_domains:SM00944,Pfam_domain:PF09286,hmmpanther:PTHR14218,hmmpanther:PTHR14218:SF15	.	.	ENSP00000299427	.	3/13	.	.	.	.	.	.	.	.	rs753620806	3/13	PASS	ENST00000299427	Transcript	.	.	ENSG00000166340	2073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0.01)	.	TPP1_HUMAN	TPP1	HGNC	E9PME9_HUMAN,D3DQU2_HUMAN	.	UPI0000001109	SNV	TPP1,missense_variant,p.Thr50Ala,ENST00000436873,;TPP1,missense_variant,p.Thr50Ala,ENST00000299427,;TPP1,5_prime_UTR_variant,,ENST00000533371,;TPP1,3_prime_UTR_variant,,ENST00000528657,;DCHS1,downstream_gene_variant,,ENST00000299441,;RP11-732A19.9,splice_donor_variant,,ENST00000545572,;RP11-732A19.5,upstream_gene_variant,,ENST00000526456,;TPP1,non_coding_transcript_exon_variant,,ENST00000530040,;TPP1,non_coding_transcript_exon_variant,,ENST00000524903,;TPP1,intron_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000524924,;TPP1,upstream_gene_variant,,ENST00000524611,;TPP1,upstream_gene_variant,,ENST00000532191,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,non_coding_transcript_exon_variant,,ENST00000531754,;TPP1,non_coding_transcript_exon_variant,,ENST00000528917,;TPP1,non_coding_transcript_exon_variant,,ENST00000428886,;TPP1,intron_variant,,ENST00000528571,;	209	44	40	SUCCESS
DCHS1	8642	.	GRCh37	11	6643329	6643329	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1465045788	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	102	0	ENST00000299441.3:c.9578G>T	p.Cys3193Phe	p.C3193F	ENST00000299441	NM_003737.2	3193	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS7771.1	9578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACATGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	tolerated(0.75)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Cys3193Phe,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,intron_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	9990	102	76	SUCCESS
LRFN4	78999	.	GRCh37	11	66625840	66625840	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	29	0	ENST00000309602.4:c.625G>A	p.Ala209Thr	p.A209T	ENST00000309602	NM_024036.4	209	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8153.1	625	RADIA|VARSCANS	.	CGCTGGCTCCG	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF104	.	.	ENSP00000312535	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000309602	Transcript	.	.	ENSG00000173621	28456	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.228)	.	deleterious(0)	.	LRFN4_HUMAN	LRFN4	HGNC	Q7L3C2_HUMAN	.	UPI0000001C10	SNV	LRFN4,missense_variant,p.Ala209Thr,ENST00000309602,;LRFN4,missense_variant,p.Ala209Thr,ENST00000393952,;PC,intron_variant,,ENST00000393960,;PC,intron_variant,,ENST00000393958,;PC,intron_variant,,ENST00000393955,;PC,downstream_gene_variant,,ENST00000524491,;PC,downstream_gene_variant,,ENST00000355677,;PC,intron_variant,,ENST00000530187,;LRFN4,downstream_gene_variant,,ENST00000531590,;	868	29	51	SUCCESS
FAM71C	196472	.	GRCh37	12	100041853	100041853	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	31	0	ENST00000324341.1:c.-100G>T		p.*34*	ENST00000324341	NM_153364.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9072.1	.	MUTECT|MUSE	.	TGCTGGCCCAC	NONE	.	.	.	.	.	ENSP00000315247	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000324341	Transcript	.	.	ENSG00000180219	28594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA71C_HUMAN	FAM71C	HGNC	.	.	UPI0000073857	SNV	FAM71C,5_prime_UTR_variant,,ENST00000324341,;ANKS1B,intron_variant,,ENST00000329257,;ANKS1B,intron_variant,,ENST00000549866,;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,intron_variant,,ENST00000547776,;ANKS1B,intron_variant,,ENST00000552232,;	323	31	29	SUCCESS
PPP1CC	5501	.	GRCh37	12	111180527	111180527	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	19	0	ENST00000335007.5:c.-15G>A		p.*5*	ENST00000335007	NM_002710.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58279.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCCGACCC	NONE	.	.	.	.	.	ENSP00000341779	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000340766	Transcript	.	.	ENSG00000186298	9283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PP1G_HUMAN	PPP1CC	HGNC	Q9UPN1_HUMAN,C4TNW6_HUMAN,C4TNW5_HUMAN	.	UPI000002B16F	SNV	PPP1CC,5_prime_UTR_variant,,ENST00000551676,;PPP1CC,5_prime_UTR_variant,,ENST00000550991,;PPP1CC,5_prime_UTR_variant,,ENST00000335007,;PPP1CC,5_prime_UTR_variant,,ENST00000340766,;PPP1CC,non_coding_transcript_exon_variant,,ENST00000551690,;	218	19	23	SUCCESS
DNAH10	196385	.	GRCh37	12	124305198	124305198	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781073451	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	60	146	0	ENST00000409039.3:c.3718G>T	p.Ala1240Ser	p.A1240S	ENST00000409039	NM_207437.3	1240	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9255.2	3718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACGCTGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	23/78	.	.	.	.	.	.	.	.	rs781073451,COSM2226274	23/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.5)	.	.	0,1	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Ala1240Ser,ENST00000409039,;	3743	146	120	SUCCESS
GRIN2B	2904	.	GRCh37	12	13906561	13906561	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	76	0	ENST00000609686.1:c.700A>G	p.Lys234Glu	p.K234E	ENST00000609686	NM_000834.3	234	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS8662.1	700	RADIA|VARSCANS	.	TTCCTTGGTAC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000477455	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000609686	Transcript	.	.	ENSG00000273079	4586	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.925)	.	deleterious(0.04)	.	NMDE2_HUMAN	GRIN2B	HGNC	Q59HA9_HUMAN	.	UPI000013026C	SNV	GRIN2B,missense_variant,p.Lys234Glu,ENST00000609686,;	910	76	37	SUCCESS
LRMP	0	.	GRCh37	12	25254117	25254117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	81	0	ENST00000354454.3:c.747C>A	p.Ser249Arg	p.S249R	ENST00000354454	NM_006152.3	249	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS8701.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCCGGGT	NONE	.	.	hmmpanther:PTHR15352,Pfam_domain:PF05781	.	.	ENSP00000346442	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000354454	Transcript	.	.	ENSG00000118308	6690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LRMP_HUMAN	LRMP	HGNC	G3V513_HUMAN,G3V2F6_HUMAN,F8W9L6_HUMAN,F8VRE4_HUMAN,F5H006_HUMAN	.	UPI000034ECC4	SNV	LRMP,missense_variant,p.Ser196Arg,ENST00000536173,;LRMP,missense_variant,p.Ser249Arg,ENST00000354454,;LRMP,missense_variant,p.Ser249Arg,ENST00000548766,;LRMP,missense_variant,p.Ser249Arg,ENST00000547044,;RP11-713N11.4,upstream_gene_variant,,ENST00000555862,;LRMP,missense_variant,p.Ser40Arg,ENST00000555877,;LRMP,missense_variant,p.Ser249Arg,ENST00000361433,;LRMP,non_coding_transcript_exon_variant,,ENST00000553398,;LRMP,non_coding_transcript_exon_variant,,ENST00000549437,;LRMP,upstream_gene_variant,,ENST00000555194,;	1576	81	44	SUCCESS
C12orf4	57102	.	GRCh37	12	4609389	4609389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	44	190	0	ENST00000261250.3:c.1355G>T	p.Gly452Val	p.G452V	ENST00000261250	NM_020374.2	452	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS8528.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCCCATA	NONE	.	.	Pfam_domain:PF10154,hmmpanther:PTHR16525,hmmpanther:PTHR16525:SF0	.	.	ENSP00000261250	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000261250	Transcript	.	.	ENSG00000047621	1184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	CL004_HUMAN	C12orf4	HGNC	F5H744_HUMAN,F5GXX6_HUMAN	.	UPI0000038C60	SNV	C12orf4,missense_variant,p.Gly452Val,ENST00000545746,;C12orf4,missense_variant,p.Gly452Val,ENST00000261250,;C12orf4,downstream_gene_variant,,ENST00000509318,;C12orf4,3_prime_UTR_variant,,ENST00000544258,;	1443	191	125	SUCCESS
TENC1	0	.	GRCh37	12	53446269	53446269	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	38	89	0	ENST00000314250.6:c.215A>T	p.Glu72Val	p.E72V	ENST00000314250	NM_170754.2	72	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS8842.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGAAGCAA	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000319756	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000314276	Transcript	.	.	ENSG00000111077	19737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	TENC1_HUMAN	TENC1	HGNC	.	.	UPI000013F790	SNV	TENC1,missense_variant,p.Glu72Val,ENST00000451358,;TENC1,missense_variant,p.Glu72Val,ENST00000549700,;TENC1,missense_variant,p.Glu72Val,ENST00000546602,;TENC1,missense_variant,p.Glu82Val,ENST00000314276,;TENC1,missense_variant,p.Glu72Val,ENST00000314250,;TENC1,missense_variant,p.Glu72Val,ENST00000552570,;TENC1,5_prime_UTR_variant,,ENST00000379902,;RP11-983P16.4,intron_variant,,ENST00000550601,;RP11-983P16.4,intron_variant,,ENST00000546793,;RP11-983P16.4,downstream_gene_variant,,ENST00000551890,;TENC1,non_coding_transcript_exon_variant,,ENST00000552403,;TENC1,non_coding_transcript_exon_variant,,ENST00000549498,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;TENC1,downstream_gene_variant,,ENST00000551302,;TENC1,upstream_gene_variant,,ENST00000551693,;	440	89	101	SUCCESS
MMP19	4327	.	GRCh37	12	56235006	56235006	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	29	0	ENST00000322569.4:c.188C>A	p.Ala63Glu	p.A63E	ENST00000322569	NM_002429.5	63	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS8895.1	188	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGCTTCC	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,Gene3D:1.10.101.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000313437	.	3/9	.	.	.	.	.	.	.	.	.	3/9	oxog	ENST00000322569	Transcript	.	.	ENSG00000123342	7165	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0.03)	.	MMP19_HUMAN	MMP19	HGNC	.	.	UPI0000030AE6	SNV	MMP19,missense_variant,p.Ala63Glu,ENST00000548629,;MMP19,missense_variant,p.Ala63Glu,ENST00000409200,;MMP19,missense_variant,p.Ala63Glu,ENST00000322569,;MMP19,upstream_gene_variant,,ENST00000394182,;MMP19,non_coding_transcript_exon_variant,,ENST00000547487,;MMP19,non_coding_transcript_exon_variant,,ENST00000547299,;TMEM198B,downstream_gene_variant,,ENST00000487582,;TMEM198B,downstream_gene_variant,,ENST00000508246,;TMEM198B,downstream_gene_variant,,ENST00000482378,;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000471276,;MMP19,intron_variant,,ENST00000548882,;MMP19,intron_variant,,ENST00000552763,;MMP19,intron_variant,,ENST00000552872,;MMP19,upstream_gene_variant,,ENST00000547685,;	280	29	23	SUCCESS
PPFIA2	8499	.	GRCh37	12	81746949	81746949	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753367719	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	47	185	0	ENST00000549396.1:c.1943C>A	p.Thr648Lys	p.T648K	ENST00000549396	NM_003625.3	648	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS55857.1	1943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCGTCTGG	NONE	byFrequency	.	hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	17/33	.	.	.	.	.	.	.	.	rs753367719	17/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,missense_variant,p.Thr630Lys,ENST00000333447,;PPFIA2,missense_variant,p.Thr574Lys,ENST00000407050,;PPFIA2,missense_variant,p.Thr215Lys,ENST00000541570,;PPFIA2,missense_variant,p.Thr549Lys,ENST00000443686,;PPFIA2,missense_variant,p.Thr495Lys,ENST00000550359,;PPFIA2,missense_variant,p.Thr229Lys,ENST00000553058,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000548586,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000549396,;PPFIA2,missense_variant,p.Thr630Lys,ENST00000549325,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000550584,;PPFIA2,missense_variant,p.Thr648Lys,ENST00000552948,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,upstream_gene_variant,,ENST00000549917,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	2104	185	103	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679663	37679663	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	29	0	ENST00000379800.3:c.-270C>A		p.*90*	ENST00000379800	NM_145203.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9363.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGATGTC	NONE	.	.	.	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,5_prime_UTR_variant,,ENST00000379800,;	141	29	33	SUCCESS
FREM2	341640	.	GRCh37	13	39422666	39422666	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367867609	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	139	0	ENST00000280481.7:c.6238C>A	p.Arg2080Ser	p.R2080S	ENST00000280481	NM_207361.4	2080	Cgt/Agt	0	T:0.0002	.	.	.	.	A	R/S	protein_coding	YES	CCDS31960.1	6238	RADIA|VARSCANS	.	CTGTTCGTGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	T:0	ENSP00000280481	.	8/24	.	.	.	.	.	.	.	.	rs367867609,COSM2073198	8/24	oxog	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.014)	.	tolerated(0.21)	0,1	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Arg2080Ser,ENST00000280481,;FREM2,non_coding_transcript_exon_variant,,ENST00000482551,;	6454	139	39	SUCCESS
PCDH17	27253	.	GRCh37	13	58240890	58240890	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1208260199	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	153	0	ENST00000377918.3:c.2720G>A	p.Gly907Asp	p.G907D	ENST00000377918	NM_001040429.2	907	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31986.1	2720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGCTCCT	NONE	.	.	.	.	.	ENSP00000367151	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,missense_variant,p.Gly907Asp,ENST00000377918,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	2746	153	61	SUCCESS
MYH7	4625	.	GRCh37	14	23894544	23894544	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	92	0	ENST00000355349.3:c.2370C>A	p.Ala790=	p.A790=	ENST00000355349	NM_000257.2	790	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9601.1	2370	RADIA|VARSCANS	.	GACTGGGCCTG	NONE	.	.	PROSITE_profiles:PS50096,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Gene3D:1wdcA00,SMART_domains:SM00015,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	21/40	.	.	.	.	.	.	.	.	.	21/40	oxog	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,synonymous_variant,p.%3D,ENST00000355349,;	2533	92	37	SUCCESS
SNRPA1	6627	.	GRCh37	15	101827889	101827889	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	61	180	0	ENST00000254193.6:c.328G>T	p.Ala110Ser	p.A110S	ENST00000254193	NM_003090.2	110	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10391.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCCAGAG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10552,Pfam_domain:PF14580,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000254193	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000254193	Transcript	.	.	ENSG00000131876	11152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	RU2A_HUMAN	SNRPA1	HGNC	Q9UEN1_HUMAN,H0YLR3_HUMAN	.	UPI000006DD72	SNV	SNRPA1,missense_variant,p.Ala110Ser,ENST00000254193,;SNRPA1,missense_variant,p.Ala5Ser,ENST00000559686,;SNRPA1,5_prime_UTR_variant,,ENST00000560496,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560856,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000394082,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560987,;SNRPA1,intron_variant,,ENST00000540017,;SNRPA1,downstream_gene_variant,,ENST00000558020,;SNRPA1,missense_variant,p.Ala110Ser,ENST00000559309,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558059,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560433,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560383,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558036,;SNRPA1,upstream_gene_variant,,ENST00000560307,;	401	180	90	SUCCESS
DMXL2	23312	.	GRCh37	15	51791589	51791589	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	46	130	0	ENST00000251076.5:c.3832G>C	p.Val1278Leu	p.V1278L	ENST00000251076	NM_015263.3	1278	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS53946.1	3832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACAGCAT	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.63)	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,missense_variant,p.Val1278Leu,ENST00000543779,;DMXL2,missense_variant,p.Val1278Leu,ENST00000251076,;DMXL2,intron_variant,,ENST00000449909,;RP11-707P17.1,downstream_gene_variant,,ENST00000561007,;	3922	130	78	SUCCESS
STOML1	9399	.	GRCh37	15	74277722	74277722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	84	0	ENST00000541638.1:c.601G>T	p.Ala201Ser	p.A201S	ENST00000541638		201	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10254.1	727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCCAGCT	NONE	.	.	hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF70	.	.	ENSP00000319323	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000316900	Transcript	.	.	ENSG00000067221	14560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.02)	.	STML1_HUMAN	STOML1	HGNC	H3BVF2_HUMAN	.	UPI00000377B6	SNV	STOML1,missense_variant,p.Ala243Ser,ENST00000359750,;STOML1,missense_variant,p.Ala193Ser,ENST00000316911,;STOML1,missense_variant,p.Ala193Ser,ENST00000564777,;STOML1,missense_variant,p.Ala243Ser,ENST00000316900,;STOML1,missense_variant,p.Ala201Ser,ENST00000541638,;STOML1,missense_variant,p.Ala156Ser,ENST00000561656,;STOML1,downstream_gene_variant,,ENST00000566081,;STOML1,downstream_gene_variant,,ENST00000565240,;STOML1,downstream_gene_variant,,ENST00000562453,;STOML1,non_coding_transcript_exon_variant,,ENST00000561480,;STOML1,downstream_gene_variant,,ENST00000567052,;STOML1,downstream_gene_variant,,ENST00000567876,;STOML1,downstream_gene_variant,,ENST00000563229,;	852	84	31	SUCCESS
TTC23	64927	.	GRCh37	15	99759189	99759189	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	87	343	0	ENST00000394132.2:c.369G>T	p.Val123=	p.V123=	ENST00000394132	NM_001288615.1	123	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10379.2	369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCACAAT	NONE	.	.	hmmpanther:PTHR14485:SF1,hmmpanther:PTHR14485,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000377690	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000394132	Transcript	.	.	ENSG00000103852	25730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC23_HUMAN	TTC23	HGNC	H0YNV8_HUMAN,H0YNH7_HUMAN,H0YN45_HUMAN,H0YMN1_HUMAN,H0YM10_HUMAN,H0YKN9_HUMAN,B3KMY5_HUMAN	.	UPI00004525C9	SNV	TTC23,synonymous_variant,p.%3D,ENST00000394129,;TTC23,synonymous_variant,p.%3D,ENST00000561365,;TTC23,synonymous_variant,p.%3D,ENST00000262074,;TTC23,synonymous_variant,p.%3D,ENST00000558663,;TTC23,synonymous_variant,p.%3D,ENST00000394132,;TTC23,synonymous_variant,p.%3D,ENST00000558613,;TTC23,synonymous_variant,p.%3D,ENST00000394130,;TTC23,synonymous_variant,p.%3D,ENST00000394136,;TTC23,synonymous_variant,p.%3D,ENST00000560279,;TTC23,synonymous_variant,p.%3D,ENST00000394135,;TTC23,downstream_gene_variant,,ENST00000560772,;TTC23,downstream_gene_variant,,ENST00000560860,;TTC23,synonymous_variant,p.%3D,ENST00000459771,;TTC23,non_coding_transcript_exon_variant,,ENST00000494567,;	1187	343	149	SUCCESS
ZNF646	9726	.	GRCh37	16	31089632	31089632	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	26	0	ENST00000394979.2:c.1987T>C	p.Leu663=	p.L663=	ENST00000394979		663	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10702.1	1987	RADIA|VARSCANS	.	ACCACTTGCGC	NONE	.	.	SMART_domains:SM00355,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182,PROSITE_profiles:PS50157	.	.	ENSP00000300850	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000300850	Transcript	.	.	ENSG00000167395	29004	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN646_HUMAN	ZNF646	HGNC	H3BSD0_HUMAN,C9J3L0_HUMAN	.	UPI00001FFF54	SNV	ZNF646,synonymous_variant,p.%3D,ENST00000394979,;ZNF646,synonymous_variant,p.%3D,ENST00000300850,;ZNF668,upstream_gene_variant,,ENST00000414399,;ZNF668,upstream_gene_variant,,ENST00000300849,;ZNF668,upstream_gene_variant,,ENST00000538906,;ZNF668,upstream_gene_variant,,ENST00000394983,;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;ZNF668,upstream_gene_variant,,ENST00000564456,;	2276	26	26	SUCCESS
ZNF423	23090	.	GRCh37	16	49671299	49671299	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	144	471	0	ENST00000262383.2:c.1764C>A	p.His588Gln	p.H588Q	ENST00000262383		588	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS32445.1	1764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGTGGTT	NONE	.	.	hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385,SMART_domains:SM00355	.	.	ENSP00000455426	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,missense_variant,p.His588Gln,ENST00000262383,;ZNF423,missense_variant,p.His528Gln,ENST00000563137,;ZNF423,missense_variant,p.His528Gln,ENST00000562520,;ZNF423,missense_variant,p.His588Gln,ENST00000561648,;ZNF423,missense_variant,p.His471Gln,ENST00000567169,;ZNF423,missense_variant,p.His471Gln,ENST00000535559,;ZNF423,missense_variant,p.His528Gln,ENST00000562871,;	1818	471	406	SUCCESS
FLOT2	2319	.	GRCh37	17	27210165	27210165	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777162321	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	42	0	ENST00000394908.4:c.307G>A	p.Val103Ile	p.V103I	ENST00000394908	NM_004475.2	103	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS11245.2	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGACGT	NONE	byCluster	.	hmmpanther:PTHR13806,hmmpanther:PTHR13806:SF17,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593	.	.	ENSP00000378368	.	4/11	.	.	.	.	.	.	.	.	rs777162321	4/11	PASS	ENST00000394908	Transcript	.	.	ENSG00000132589	3758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	FLOT2_HUMAN	FLOT2	HGNC	Q6FG43_HUMAN	.	UPI00001AE777	SNV	FLOT2,missense_variant,p.Val158Ile,ENST00000394906,;FLOT2,missense_variant,p.Val103Ile,ENST00000585169,;FLOT2,missense_variant,p.Val103Ile,ENST00000394908,;FLOT2,intron_variant,,ENST00000465427,;FLOT2,non_coding_transcript_exon_variant,,ENST00000577789,;FLOT2,upstream_gene_variant,,ENST00000584569,;FLOT2,3_prime_UTR_variant,,ENST00000580805,;FLOT2,non_coding_transcript_exon_variant,,ENST00000582174,;FLOT2,non_coding_transcript_exon_variant,,ENST00000581509,;FLOT2,non_coding_transcript_exon_variant,,ENST00000580313,;FLOT2,intron_variant,,ENST00000593158,;FLOT2,intron_variant,,ENST00000586827,;	412	42	51	SUCCESS
SMURF2P1	107133516	.	GRCh37	17	28935566	28935566	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	44	0	ENST00000579301.1:n.417T>A		p.*139*	ENST00000579301				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTCAAAG	NONE	.	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000579301	Transcript	.	.	ENSG00000248121	44402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SMURF2P1	HGNC	.	.	.	SNV	AC005562.1,non_coding_transcript_exon_variant,,ENST00000431308,;AC005562.1,non_coding_transcript_exon_variant,,ENST00000398849,;SMURF2P1,non_coding_transcript_exon_variant,,ENST00000579301,;AC005562.1,non_coding_transcript_exon_variant,,ENST00000440026,;AC005562.1,non_coding_transcript_exon_variant,,ENST00000578265,;SMURF2P1,non_coding_transcript_exon_variant,,ENST00000514992,;	417	44	35	SUCCESS
ACACA	31	.	GRCh37	17	35656427	35656427	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	40	0	ENST00000353139.5:c.339-14556C>G		p.*113*	ENST00000353139	NM_198834.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATAGTCTTT	NONE	.	.	.	.	.	ENSP00000344789	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODIFIER	3/55	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,5_prime_UTR_variant,,ENST00000360679,;ACACA,5_prime_UTR_variant,,ENST00000335166,;ACACA,intron_variant,,ENST00000416895,;ACACA,intron_variant,,ENST00000591148,;ACACA,intron_variant,,ENST00000394403,;ACACA,intron_variant,,ENST00000353139,;ACACA,intron_variant,,ENST00000394406,;ACACA,intron_variant,,ENST00000413318,;ACACA,intron_variant,,ENST00000451642,;ACACA,intron_variant,,ENST00000590888,;ACACA,intron_variant,,ENST00000456066,;	.	40	31	SUCCESS
GSG2	0	.	GRCh37	17	3627867	3627867	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	88	0	ENST00000325418.4:c.638A>G	p.Asp213Gly	p.D213G	ENST00000325418	NM_031965.2	213	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11036.1	638	RADIA|VARSCANS	.	CCTGGACCGAG	NONE	.	.	hmmpanther:PTHR24419:SF20,hmmpanther:PTHR24419	.	.	ENSP00000325290	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325418	Transcript	.	.	ENSG00000177602	19682	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.21)	.	HASP_HUMAN	GSG2	HGNC	.	.	UPI0000141654	SNV	GSG2,missense_variant,p.Asp213Gly,ENST00000325418,;ITGAE,intron_variant,,ENST00000263087,;ITGAE,downstream_gene_variant,,ENST00000574026,;CTD-3195I5.4,upstream_gene_variant,,ENST00000575043,;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,;ITGAE,non_coding_transcript_exon_variant,,ENST00000571185,;ITGAE,upstream_gene_variant,,ENST00000570360,;ITGAE,upstream_gene_variant,,ENST00000572179,;ITGAE,intron_variant,,ENST00000570415,;ITGAE,upstream_gene_variant,,ENST00000572433,;	657	88	43	SUCCESS
PCGF2	7703	.	GRCh37	17	36891702	36891702	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1196536292	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	132	0	ENST00000580830.1:c.809C>T	p.Pro270Leu	p.P270L	ENST00000580830		270	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32638.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10825:SF22,hmmpanther:PTHR10825	.	.	ENSP00000461961	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000580830	Transcript	.	.	ENSG00000056661	12929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	PCGF2_HUMAN	PCGF2	HGNC	.	.	UPI0000001279	SNV	PCGF2,missense_variant,p.Pro270Leu,ENST00000581345,;PCGF2,missense_variant,p.Pro270Leu,ENST00000360797,;PCGF2,missense_variant,p.Pro270Leu,ENST00000580830,;PCGF2,3_prime_UTR_variant,,ENST00000578109,;PCGF2,3_prime_UTR_variant,,ENST00000579882,;PCGF2,3_prime_UTR_variant,,ENST00000585100,;PCGF2,intron_variant,,ENST00000578487,;CISD3,downstream_gene_variant,,ENST00000439660,;RNA5SP440,upstream_gene_variant,,ENST00000363245,;CISD3,downstream_gene_variant,,ENST00000578573,;CISD3,downstream_gene_variant,,ENST00000581668,;	1511	132	104	SUCCESS
KRTAP3-3	85293	.	GRCh37	17	39150290	39150290	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	81	313	0	ENST00000391586.1:c.60C>A	p.Cys20Ter	p.C20*	ENST00000391586	NM_033185.2	20	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS32643.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGCAGAT	NONE	.	.	hmmpanther:PTHR23260,Pfam_domain:PF04579	.	.	ENSP00000375428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391586	Transcript	.	.	ENSG00000212899	18890	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA33_HUMAN	KRTAP3-3	HGNC	.	.	UPI00000706E5	SNV	KRTAP3-3,stop_gained,p.Cys20Ter,ENST00000391586,;	96	313	219	SUCCESS
ATP6V0A1	535	.	GRCh37	17	40652840	40652840	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	394	249	706	0	ENST00000343619.4:c.1795G>T	p.Ala599Ser	p.A599S	ENST00000343619	NM_001130021.1	599	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45683.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGCTCAT	NONE	.	.	hmmpanther:PTHR11629:SF25,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000264649	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000264649	Transcript	.	.	ENSG00000033627	865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	tolerated(0.08)	.	VPP1_HUMAN	ATP6V0A1	HGNC	K7EM24_HUMAN,K7ELZ6_HUMAN	.	UPI0000E59F9E	SNV	ATP6V0A1,missense_variant,p.Ala556Ser,ENST00000585525,;ATP6V0A1,missense_variant,p.Ala599Ser,ENST00000393829,;ATP6V0A1,missense_variant,p.Ala599Ser,ENST00000343619,;ATP6V0A1,missense_variant,p.Ala599Ser,ENST00000546249,;ATP6V0A1,missense_variant,p.Ala556Ser,ENST00000537728,;ATP6V0A1,missense_variant,p.Ala4Ser,ENST00000586201,;ATP6V0A1,missense_variant,p.Ala606Ser,ENST00000264649,;ATP6V0A1,missense_variant,p.Ala245Ser,ENST00000544137,;ATP6V0A1,upstream_gene_variant,,ENST00000588138,;RP11-194N12.2,downstream_gene_variant,,ENST00000591343,;ATP6V0A1,missense_variant,p.Ala15Ser,ENST00000587510,;	1947	706	644	SUCCESS
RUNDC1	146923	.	GRCh37	17	41143400	41143400	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	109	0	ENST00000361677.1:c.1509T>A	p.Pro503=	p.P503=	ENST00000361677	NM_173079.2	503	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11448.1	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGTTAC	NONE	.	.	PROSITE_profiles:PS50826,Pfam_domain:PF02759	.	.	ENSP00000354622	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361677	Transcript	.	.	ENSG00000198863	25418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUND1_HUMAN	RUNDC1	HGNC	.	.	UPI00001AED0E	SNV	RUNDC1,synonymous_variant,p.%3D,ENST00000361677,;RUNDC1,downstream_gene_variant,,ENST00000589705,;	1521	109	101	SUCCESS
CCDC43	124808	.	GRCh37	17	42756228	42756228	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	147	421	0	ENST00000315286.8:c.671G>C	p.Arg224Pro	p.R224P	ENST00000315286	NM_144609.2	224	cGa/cCa	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS45704.1	671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCGCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31684	.	.	ENSP00000323782	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000315286	Transcript	.	.	ENSG00000180329	26472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	CCD43_HUMAN	CCDC43	HGNC	.	.	UPI00002013C0	SNV	CCDC43,missense_variant,p.Arg224Pro,ENST00000315286,;CCDC43,missense_variant,p.Arg227Pro,ENST00000588210,;CCDC43,3_prime_UTR_variant,,ENST00000457422,;CCDC43,intron_variant,,ENST00000588687,;C17orf104,downstream_gene_variant,,ENST00000409122,;RP11-1072C15.4,upstream_gene_variant,,ENST00000591628,;C17orf104,intron_variant,,ENST00000588805,;C17orf104,intron_variant,,ENST00000472403,;CCDC43,downstream_gene_variant,,ENST00000592333,;	680	421	370	SUCCESS
SP6	80320	.	GRCh37	17	45925714	45925714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	39	0	ENST00000342234.2:c.82C>A	p.Pro28Thr	p.P28T	ENST00000342234	NM_199262.2	28	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS11520.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGGCTGCA	NONE	.	.	hmmpanther:PTHR23223:SF138,hmmpanther:PTHR23223	.	.	ENSP00000438209	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000536300	Transcript	.	.	ENSG00000189120	14530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious_low_confidence(0.01)	.	SP6_HUMAN	SP6	HGNC	.	.	UPI000022A416	SNV	SP6,missense_variant,p.Pro28Thr,ENST00000536300,;SP6,missense_variant,p.Pro28Thr,ENST00000342234,;	414	39	44	SUCCESS
CSH1	1442	.	GRCh37	17	61972411	61972411	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs61764004	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	80	249	0	ENST00000316193.8:c.625C>A	p.Arg209Ser	p.R209S	ENST00000316193	NM_001317.5	209	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11649.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCGGCACT	NONE	byFrequency|byCluster	.	Prints_domain:PR00836,Superfamily_domains:SSF47266,Gene3D:1.20.1250.10,Pfam_domain:PF00103,hmmpanther:PTHR11417:SF32,hmmpanther:PTHR11417	.	.	ENSP00000316416	.	5/5	.	.	.	.	.	.	.	.	rs61764004,COSM305377	5/5	PASS	ENST00000316193	Transcript	.	.	ENSG00000136488	2440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.955)	.	deleterious(0)	0,1	CSH_HUMAN	CSH1	HGNC	Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN	.	UPI0000000C48	SNV	CSH1,missense_variant,p.Arg114Ser,ENST00000453363,;CSH1,missense_variant,p.Arg209Ser,ENST00000316193,;CSH1,3_prime_UTR_variant,,ENST00000329882,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;	767	249	172	SUCCESS
TP53	7157	.	GRCh37	17	7578449	7578449	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs193920817	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	34	85	0	ENST00000269305.4:c.481G>T	p.Ala161Ser	p.A161S	ENST00000269305	NM_001126112.2	161	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11118.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,likely_pathogenic	GATGGCCATGG	SITE|p.A161S|c.481G>T|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.A161A|c.483C>T|5,CODON|p.A161fs*9|c.481delG|3,CODON|p.A161V|c.482C>T|9,CODON|p.A161D|c.482C>A|9,BUFFER|p.K164N|c.492G>T|6,BUFFER|p.K164M|c.491A>T|4,BUFFER|p.K164E|c.490A>G|3,BUFFER|p.K164E|c.490A>G|3,BUFFER|p.K164E|c.490A>G|13,BUFFER|p.K164*|c.490A>T|11,BUFFER|p.K71E|c.211A>G|3,BUFFER|p.K32E|c.94A>G|4,BUFFER|p.Y163*|c.489C>G|5,BUFFER|p.Y163Y|c.489C>T|3,BUFFER|p.Y163*|c.489C>A|3,BUFFER|p.Y163C|c.488A>G|126,BUFFER|p.Y70C|c.209A>G|30,BUFFER|p.Y163S|c.488A>C|5,BUFFER|p.Y31C|c.92A>G|33,BUFFER|p.Y163C|c.488A>G|9,BUFFER|p.Y163C|c.488A>G|13,BUFFER|p.Y163C|c.488A>G|30,BUFFER|p.Y163C|c.488A>G|30,BUFFER|p.Y163H|c.487T>C|19,BUFFER|p.Y70D|c.208T>G|3,BUFFER|p.Y163N|c.487T>A|5,BUFFER|p.Y163N|c.487T>A|5,BUFFER|p.Y163D|c.487T>G|3,BUFFER|p.Y70N|c.208T>A|5,BUFFER|p.Y163N|c.487T>A|22,BUFFER|p.Y163D|c.487T>G|3,BUFFER|p.Y31D|c.91T>G|3,BUFFER|p.Y31N|c.91T>A|5,BUFFER|p.Y163D|c.487T>G|6,BUFFER|p.I162M|c.486C>G|3,BUFFER|p.I162N|c.485T>A|6,BUFFER|p.I162N|c.485T>A|9,BUFFER|p.I162S|c.485T>G|5,BUFFER|p.I69N|c.206T>A|6,BUFFER|p.I162N|c.485T>A|6,BUFFER|p.I30N|c.89T>A|6,BUFFER|p.I162V|c.484A>G|5,BUFFER|p.I162F|c.484A>T|11,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A29T|c.85G>A|10,BUFFER|p.A161T|c.481G>A|52,BUFFER|p.A68T|c.202G>A|10,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.R158fs*11|c.472_475delCGCG|3,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158C|c.471_472CC>TT|6,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157V|c.471C>A|3,BUFFER|p.V157G|c.470T>G|9,BUFFER|p.V157D|c.470T>A|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs193920817,TP53_g.12469G>C,TP53_g.12469G>T,TP53_g.12469G>A,TP53_g.12469del,COSM44230,COSM10739,COSM43549,COSM45501,COSM249095,COSM1610856,COSM249094,COSM1610857,COSM249096,COSM1610859,COSM3378356,COSM3717664,COSM2744887,COSM3717663,COSM249097,COSM1610858	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ala161Ser,ENST00000508793,;TP53,missense_variant,p.Ala161Ser,ENST00000413465,;TP53,missense_variant,p.Ala161Ser,ENST00000420246,;TP53,missense_variant,p.Ala161Ser,ENST00000269305,;TP53,missense_variant,p.Ala29Ser,ENST00000509690,;TP53,missense_variant,p.Ala161Ser,ENST00000359597,;TP53,missense_variant,p.Ala68Ser,ENST00000514944,;TP53,missense_variant,p.Ala161Ser,ENST00000445888,;TP53,missense_variant,p.Ala161Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	671	85	49	SUCCESS
CTD-2047H16.4	0	.	GRCh37	17	78327755	78327755	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	37	0	ENST00000575034.1:n.1524G>A		p.*508*	ENST00000575034				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58606.1	.	RADIA|VARSCANS	.	ACGGGCGGTTT	NONE	.	.	.	.	.	ENSP00000464087	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODIFIER	34/67	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,intron_variant,,ENST00000582970,;RNF213,intron_variant,,ENST00000336301,;RNF213,intron_variant,,ENST00000508628,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;CTD-2047H16.4,downstream_gene_variant,,ENST00000572151,;RNF213,upstream_gene_variant,,ENST00000560694,;RNF213,upstream_gene_variant,,ENST00000558116,;	.	37	39	SUCCESS
PCYT2	5833	.	GRCh37	17	79864760	79864760	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	47	0	ENST00000538936.2:c.552G>T	p.Arg184=	p.R184=	ENST00000538936	NM_001256435.1	184	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54178.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTCCGCCC	NONE	.	.	hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF23	.	.	ENSP00000442050	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000538721	Transcript	.	.	ENSG00000185813	8756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCY2_HUMAN	PCYT2	HGNC	I3L1F9_HUMAN,I3L1C4_HUMAN	.	UPI0000D4CB10	SNV	PCYT2,synonymous_variant,p.%3D,ENST00000572995,;PCYT2,synonymous_variant,p.%3D,ENST00000331285,;PCYT2,synonymous_variant,p.%3D,ENST00000538936,;PCYT2,synonymous_variant,p.%3D,ENST00000576343,;PCYT2,synonymous_variant,p.%3D,ENST00000571105,;PCYT2,synonymous_variant,p.%3D,ENST00000538721,;PCYT2,synonymous_variant,p.%3D,ENST00000573636,;PCYT2,synonymous_variant,p.%3D,ENST00000570391,;PCYT2,synonymous_variant,p.%3D,ENST00000570388,;PCYT2,downstream_gene_variant,,ENST00000573927,;NPB,downstream_gene_variant,,ENST00000333383,;PCYT2,downstream_gene_variant,,ENST00000572157,;NPB,downstream_gene_variant,,ENST00000573081,;PCYT2,downstream_gene_variant,,ENST00000572473,;PCYT2,3_prime_UTR_variant,,ENST00000573401,;PCYT2,non_coding_transcript_exon_variant,,ENST00000571581,;PCYT2,upstream_gene_variant,,ENST00000574155,;PCYT2,upstream_gene_variant,,ENST00000571944,;PCYT2,upstream_gene_variant,,ENST00000572924,;PCYT2,upstream_gene_variant,,ENST00000574343,;	657	47	63	SUCCESS
MYADML2	255275	.	GRCh37	17	79899539	79899539	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs931530655	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	41	0	ENST00000330655.3:c.79G>A	p.Val27Met	p.V27M	ENST00000330655		27	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45815.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCACGCGGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR17068:SF5,hmmpanther:PTHR17068,Pfam_domain:PF01284	.	.	ENSP00000386702	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000409745	Transcript	.	.	ENSG00000185105	34548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.16)	.	MADL2_HUMAN	MYADML2	HGNC	.	.	UPI0000EE5F22	SNV	MYADML2,missense_variant,p.Val27Met,ENST00000409745,;MYADML2,missense_variant,p.Val27Met,ENST00000330655,;PYCR1,intron_variant,,ENST00000582198,;PYCR1,upstream_gene_variant,,ENST00000583564,;PYCR1,upstream_gene_variant,,ENST00000337943,;PYCR1,upstream_gene_variant,,ENST00000577624,;PYCR1,upstream_gene_variant,,ENST00000405481,;PYCR1,upstream_gene_variant,,ENST00000585244,;PYCR1,upstream_gene_variant,,ENST00000584848,;PYCR1,upstream_gene_variant,,ENST00000403172,;PYCR1,upstream_gene_variant,,ENST00000579366,;PYCR1,upstream_gene_variant,,ENST00000329875,;PYCR1,upstream_gene_variant,,ENST00000585215,;PYCR1,upstream_gene_variant,,ENST00000402252,;PYCR1,upstream_gene_variant,,ENST00000581271,;PYCR1,upstream_gene_variant,,ENST00000577756,;PYCR1,upstream_gene_variant,,ENST00000579698,;AC137723.5,upstream_gene_variant,,ENST00000415556,;	434	41	49	SUCCESS
KATNAL2	83473	.	GRCh37	18	44625671	44625671	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	9	110	0	ENST00000356157.7:c.1269C>A	p.Pro423=	p.P423=	ENST00000356157		423	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32828.1	1053	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGCCG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF78,HAMAP:MF_03025	.	.	ENSP00000245121	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000245121	Transcript	.	.	ENSG00000167216	25387	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KATL2_HUMAN	KATNAL2	HGNC	K7EM02_HUMAN	.	UPI0000456B8E	SNV	KATNAL2,synonymous_variant,p.%3D,ENST00000588433,;KATNAL2,synonymous_variant,p.%3D,ENST00000245121,;KATNAL2,synonymous_variant,p.%3D,ENST00000356157,;KATNAL2,downstream_gene_variant,,ENST00000592005,;KATNAL2,downstream_gene_variant,,ENST00000591522,;	1247	110	80	SUCCESS
KEAP1	9817	.	GRCh37	19	10602767	10602767	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	28	64	0	ENST00000171111.5:c.811G>T	p.Val271Leu	p.V271L	ENST00000171111	NM_203500.1	271	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS12239.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCACGGCCC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	COSM1524059	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.927)	.	deleterious(0)	1	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Val271Leu,ENST00000393623,;KEAP1,missense_variant,p.Val271Leu,ENST00000592055,;KEAP1,missense_variant,p.Val271Leu,ENST00000171111,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;KEAP1,upstream_gene_variant,,ENST00000590593,;	1359	64	38	SUCCESS
SYDE1	85360	.	GRCh37	19	15221436	15221436	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	40	0	ENST00000342784.2:c.1180C>A	p.Arg394Ser	p.R394S	ENST00000342784	NM_033025.4	394	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12324.1	1180	RADIA|VARSCANS	.	AGCCCCGCGTC	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178,Gene3D:1.10.555.10,Superfamily_domains:SSF48350	.	.	ENSP00000341489	.	4/8	.	.	.	.	.	.	.	.	.	4/8	oxog	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.277)	.	tolerated(0.75)	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,missense_variant,p.Arg327Ser,ENST00000600440,;SYDE1,missense_variant,p.Arg16Ser,ENST00000602203,;SYDE1,missense_variant,p.Arg51Ser,ENST00000600252,;SYDE1,missense_variant,p.Arg394Ser,ENST00000342784,;ILVBL,downstream_gene_variant,,ENST00000534378,;ILVBL,downstream_gene_variant,,ENST00000263383,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000534806,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000524779,;	1211	40	36	SUCCESS
HPN	3249	.	GRCh37	19	35556780	35556780	+	synonymous_variant	Silent	SNP	C	C	T	rs1227466391	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	46	96	0	ENST00000262626.2:c.1059C>T	p.Ser353=	p.S353=	ENST00000262626	NM_182983.2	353	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32993.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCGGTGG	NONE	.	.	Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,PROSITE_patterns:PS00135,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5,PROSITE_profiles:PS50240	.	.	ENSP00000262626	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000262626	Transcript	.	.	ENSG00000105707	5155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEPS_HUMAN	HPN	HGNC	M0R244_HUMAN,B2ZDQ2_HUMAN	.	UPI000003FE67	SNV	HPN,synonymous_variant,p.%3D,ENST00000392226,;HPN,synonymous_variant,p.%3D,ENST00000597419,;HPN,synonymous_variant,p.%3D,ENST00000262626,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;	1884	96	95	SUCCESS
GAPDHS	26330	.	GRCh37	19	36033250	36033250	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	70	0	ENST00000222286.4:c.479C>A	p.Ala160Asp	p.A160D	ENST00000222286	NM_014364.4	160	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS12465.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCTGTCG	NONE	.	.	hmmpanther:PTHR10836,hmmpanther:PTHR10836:SF26,Pfam_domain:PF00044,TIGRFAM_domain:TIGR01534,Gene3D:3.40.50.720,SMART_domains:SM00846,PIRSF_domain:PIRSF000149,Superfamily_domains:SSF51735	.	.	ENSP00000222286	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000222286	Transcript	.	.	ENSG00000105679	24864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated_low_confidence(0.73)	.	G3PT_HUMAN	GAPDHS	HGNC	K7EP73_HUMAN	.	UPI000012AE83	SNV	GAPDHS,missense_variant,p.Ala92Asp,ENST00000585510,;GAPDHS,missense_variant,p.Ala160Asp,ENST00000222286,;TMEM147,upstream_gene_variant,,ENST00000392205,;TMEM147,upstream_gene_variant,,ENST00000392204,;TMEM147,upstream_gene_variant,,ENST00000222284,;AD000090.2,non_coding_transcript_exon_variant,,ENST00000588286,;AD000090.2,intron_variant,,ENST00000444728,;AD000090.2,intron_variant,,ENST00000590717,;AD000090.2,intron_variant,,ENST00000589137,;AD000090.2,intron_variant,,ENST00000590125,;GAPDHS,3_prime_UTR_variant,,ENST00000586334,;TMEM147,upstream_gene_variant,,ENST00000596232,;TMEM147,upstream_gene_variant,,ENST00000593027,;TMEM147,upstream_gene_variant,,ENST00000599895,;TMEM147,upstream_gene_variant,,ENST00000477168,;TMEM147,upstream_gene_variant,,ENST00000595467,;TMEM147,upstream_gene_variant,,ENST00000595180,;	595	70	54	SUCCESS
NPHS1	4868	.	GRCh37	19	36340537	36340537	+	synonymous_variant	Silent	SNP	T	T	A	rs111277506	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	65	0	ENST00000378910.5:c.627A>T	p.Ser209=	p.S209=	ENST00000378910	NM_004646.3	209	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32996.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTGAGCT	NONE	.	.	hmmpanther:PTHR11640:SF31,hmmpanther:PTHR11640,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000368190	.	6/29	.	.	.	.	.	.	.	.	rs111277506	6/29	PASS	ENST00000378910	Transcript	1	.	ENSG00000161270	7908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHN_HUMAN	NPHS1	HGNC	.	.	UPI000004EF61	SNV	NPHS1,synonymous_variant,p.%3D,ENST00000378910,;NPHS1,synonymous_variant,p.%3D,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000592132,;NPHS1,upstream_gene_variant,,ENST00000585400,;	627	65	54	SUCCESS
LGALS7	3963	.	GRCh37	19	39262670	39262670	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	37	0	ENST00000378626.4:c.96G>C	p.Arg32Ser	p.R32S	ENST00000378626	NM_002307.3	32	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS33012.1	96	RADIA|MUTECT	.	TGGAACCTGGA	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF82,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000367891	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000378626	Transcript	.	.	ENSG00000205076	6568	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.877)	.	tolerated(0.05)	.	LEG7_HUMAN	LGALS7	HGNC	.	.	UPI000000D9FF	SNV	LGALS7,missense_variant,p.Arg32Ser,ENST00000378626,;LGALS7,splice_region_variant,,ENST00000599035,;CAPN12,upstream_gene_variant,,ENST00000601953,;	96	37	12	SUCCESS
LGALS7B	653499	.	GRCh37	19	39281329	39281329	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs764438935	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	15	176	0	ENST00000314980.4:c.96G>C	p.Arg32Ser	p.R32S	ENST00000314980	NM_001042507.3	32	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS42565.1	96	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGTTCCA	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00276,SMART_domains:SM00908,Pfam_domain:PF00337,Gene3D:2.60.120.200,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF82,PROSITE_profiles:PS51304	.	.	ENSP00000313571	.	3/4	.	.	.	.	.	.	.	.	rs764438935	3/4	PASS	ENST00000314980	Transcript	.	.	ENSG00000178934	34447	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.877)	.	tolerated(0.05)	.	LEG7_HUMAN	LGALS7B	HGNC	.	.	UPI000000D9FF	SNV	LGALS7B,missense_variant,p.Arg32Ser,ENST00000314980,;LGALS7B,non_coding_transcript_exon_variant,,ENST00000600304,;	112	176	150	SUCCESS
LRG1	116844	.	GRCh37	19	4538450	4538450	+	synonymous_variant	Silent	SNP	C	C	A	rs774998596	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	15	40	0	ENST00000306390.6:c.546G>T	p.Gly182=	p.G182=	ENST00000306390	NM_052972.2	182	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12130.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCCCGGG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF25,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000302621	.	2/2	.	.	.	.	.	.	.	.	rs774998596	2/2	PASS	ENST00000306390	Transcript	.	.	ENSG00000171236	29480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2GL_HUMAN	LRG1	HGNC	B4E1I8_HUMAN	.	UPI0000125014	SNV	LRG1,synonymous_variant,p.%3D,ENST00000306390,;SEMA6B,downstream_gene_variant,,ENST00000586965,;PLIN5,upstream_gene_variant,,ENST00000381848,;PLIN5,upstream_gene_variant,,ENST00000588887,;SEMA6B,downstream_gene_variant,,ENST00000301293,;PLIN5,upstream_gene_variant,,ENST00000592610,;SEMA6B,downstream_gene_variant,,ENST00000586582,;PLIN5,upstream_gene_variant,,ENST00000586133,;LRG1,downstream_gene_variant,,ENST00000586883,;CTB-50L17.14,intron_variant,,ENST00000586020,;PLIN5,upstream_gene_variant,,ENST00000590350,;	1007	40	21	SUCCESS
CGB2	114336	.	GRCh37	19	49536324	49536324	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	37	189	0	ENST00000359342.6:c.338G>A	p.Arg113His	p.R113H	ENST00000359342	NM_033378.1	113	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12750.2	338	MUTECT|MUSE|VARSCANS	.	CCGCCGCAGCA	NONE	.	.	Superfamily_domains:SSF57501,SMART_domains:SM00068,Pfam_domain:PF00007,Gene3D:2.10.90.10,PROSITE_patterns:PS00689,hmmpanther:PTHR11515:SF12,hmmpanther:PTHR11515	.	.	ENSP00000352295	.	3/3	.	.	.	.	.	.	.	.	COSM999189	3/3	PASS	ENST00000359342	Transcript	.	.	ENSG00000104818	16722	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.952)	.	deleterious(0.01)	1	.	CGB2	HGNC	S4R385_HUMAN,M0R0E6_HUMAN,H9KV56_HUMAN	.	UPI000059D759	SNV	CGB2,missense_variant,p.Arg113His,ENST00000359342,;CGB2,missense_variant,p.Arg101His,ENST00000474913,;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB1,downstream_gene_variant,,ENST00000301407,;CGB1,downstream_gene_variant,,ENST00000601167,;CGB1,downstream_gene_variant,,ENST00000391869,;NTF6G,downstream_gene_variant,,ENST00000591094,;	456	189	108	SUCCESS
SIGLEC7	27036	.	GRCh37	19	51645632	51645632	+	synonymous_variant	Silent	SNP	G	G	A	rs1220898482	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	41	0	ENST00000317643.6:c.6G>A	p.Leu2=	p.L2=	ENST00000317643	NM_014385.3	2	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12826.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12035:SF43,hmmpanther:PTHR12035	.	.	ENSP00000323328	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000317643	Transcript	.	.	ENSG00000168995	10876	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL7_HUMAN	SIGLEC7	HGNC	.	.	UPI000011B40B	SNV	SIGLEC7,synonymous_variant,p.%3D,ENST00000601682,;SIGLEC7,synonymous_variant,p.%3D,ENST00000305628,;SIGLEC7,synonymous_variant,p.%3D,ENST00000600577,;SIGLEC7,synonymous_variant,p.%3D,ENST00000317643,;SIGLEC7,synonymous_variant,p.%3D,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;SIGLEC19P,upstream_gene_variant,,ENST00000600623,;CTD-3187F8.15,downstream_gene_variant,,ENST00000601996,;	75	41	28	SUCCESS
CEACAM18	729767	.	GRCh37	19	51984902	51984902	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	79	0	ENST00000396477.4:c.656T>G	p.Ile219Ser	p.I219S	ENST00000396477	NM_001278392.1	219	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	.	839	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCATCTCTC	NONE	.	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000402203	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000451626	Transcript	.	.	ENSG00000213822	31949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.795)	.	deleterious(0.01)	.	.	CEACAM18	HGNC	.	.	UPI0000DD8506	SNV	CEACAM18,missense_variant,p.Ile280Ser,ENST00000451626,;CEACAM18,missense_variant,p.Ile219Ser,ENST00000396477,;	839	80	86	SUCCESS
FBN3	84467	.	GRCh37	19	8186181	8186181	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781241175	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	40	123	0	ENST00000270509.2:c.3172G>T	p.Gly1058Cys	p.G1058C	ENST00000270509	NM_032447.3	1058	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS12196.1	3172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCCGGGAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000470498	.	25/64	.	.	.	.	.	.	.	.	rs781241175	25/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Gly1058Cys,ENST00000600128,;FBN3,missense_variant,p.Gly1058Cys,ENST00000601739,;FBN3,missense_variant,p.Gly1058Cys,ENST00000270509,;	3587	124	70	SUCCESS
LRIG2	9860	.	GRCh37	1	113658968	113658968	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	60	177	0	ENST00000361127.5:c.2590G>T	p.Glu864Ter	p.E864*	ENST00000361127	NM_014813.1	864	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS30808.1	2590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGAGCCA	NONE	.	.	hmmpanther:PTHR24367:SF230,hmmpanther:PTHR24367	.	.	ENSP00000355396	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000361127	Transcript	.	.	ENSG00000198799	20889	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIG2_HUMAN	LRIG2	HGNC	.	.	UPI000006F613	SNV	LRIG2,stop_gained,p.Glu864Ter,ENST00000361127,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;	2788	177	147	SUCCESS
MAGI3	260425	.	GRCh37	1	114137184	114137184	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	10	228	1	ENST00000307546.9:c.1018+2T>C		p.X340_splice	ENST00000307546	NM_001142782.1	340		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44196.1	.	MUTECT|MUSE	.	GGAGGTAGAGA	NONE	.	.	.	.	.	ENSP00000304604	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307546	Transcript	.	.	ENSG00000081026	29647	.	.	HIGH	6/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAGI3_HUMAN	MAGI3	HGNC	.	.	UPI00004589AE	SNV	MAGI3,splice_donor_variant,,ENST00000369617,;MAGI3,splice_donor_variant,,ENST00000369615,;MAGI3,splice_donor_variant,,ENST00000307546,;MAGI3,splice_donor_variant,,ENST00000369611,;	.	229	196	SUCCESS
DVL1	1855	.	GRCh37	1	1274679	1274679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	73	206	0	ENST00000378888.5:c.1195C>A	p.Pro399Thr	p.P399T	ENST00000378888		399	Cct/Act	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS22.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGCACGG	NONE	.	.	.	.	.	ENSP00000368169	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378891	Transcript	.	.	ENSG00000107404	3084	.	.	MODIFIER	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DVL1_HUMAN	DVL1	HGNC	Q6PJD6_HUMAN,B7Z6B5_HUMAN,B7Z1E8_HUMAN	.	UPI000013D455	SNV	DVL1,missense_variant,p.Pro399Thr,ENST00000378888,;DVL1,intron_variant,,ENST00000378891,;TAS1R3,downstream_gene_variant,,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000472445,;	.	206	206	SUCCESS
DENND4B	9909	.	GRCh37	1	153913916	153913916	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	46	71	0	ENST00000361217.4:c.1056G>C		p.X352_splice	ENST00000361217	NM_014856.2	352	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS44228.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGCCTGGG	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF18,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000354597	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000361217	Transcript	.	.	ENSG00000198837	29044	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN4B_HUMAN	DENND4B	HGNC	.	.	UPI000047EA3E	SNV	DENND4B,synonymous_variant,p.%3D,ENST00000368646,;DENND4B,synonymous_variant,p.%3D,ENST00000361217,;DENND4B,downstream_gene_variant,,ENST00000472932,;DENND4B,splice_region_variant,,ENST00000483561,;DENND4B,downstream_gene_variant,,ENST00000464048,;DENND4B,upstream_gene_variant,,ENST00000494683,;DENND4B,upstream_gene_variant,,ENST00000485359,;DENND4B,upstream_gene_variant,,ENST00000477746,;	1475	71	85	SUCCESS
COPA	1314	.	GRCh37	1	160305090	160305090	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	287	118	318	1	ENST00000241704.7:c.251G>T	p.Arg84Leu	p.R84L	ENST00000241704	NM_004371.3	84	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS41424.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCGCCGA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF003354,Superfamily_domains:SSF50978	.	.	ENSP00000357048	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.569)	.	deleterious(0)	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,missense_variant,p.Arg84Leu,ENST00000368069,;COPA,missense_variant,p.Arg84Leu,ENST00000241704,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;COPA,downstream_gene_variant,,ENST00000545266,;	329	319	405	SUCCESS
MST1L	11223	.	GRCh37	1	17081595	17081595	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	9	0	ENST00000389184.2:n.4187C>T		p.*1396*	ENST00000389184				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	AATGAGGCTTG	NONE	.	.	.	.	.	.	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000389184	Transcript	.	.	ENSG00000186715	7390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MST1L	HGNC	.	.	.	SNV	MST1L,non_coding_transcript_exon_variant,,ENST00000455405,;CROCC,intron_variant,,ENST00000466256,;MST1L,downstream_gene_variant,,ENST00000544155,;MST1L,non_coding_transcript_exon_variant,,ENST00000389184,;MST1L,downstream_gene_variant,,ENST00000442552,;CROCCP4,downstream_gene_variant,,ENST00000457096,;	4187	9	14	SUCCESS
COLGALT2	23127	.	GRCh37	1	183938536	183938536	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	75	141	0	ENST00000361927.4:c.699C>A	p.Pro233=	p.P233=	ENST00000361927	NM_015101.2	233	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1360.1	699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATGGGGAC	NONE	.	.	Superfamily_domains:SSF53448,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,synonymous_variant,p.%3D,ENST00000361927,;COLGALT2,synonymous_variant,p.%3D,ENST00000546159,;COLGALT2,upstream_gene_variant,,ENST00000367520,;	1071	141	128	SUCCESS
COLGALT2	23127	.	GRCh37	1	183938539	183938539	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	77	141	0	ENST00000361927.4:c.696C>A	p.Val232=	p.V232=	ENST00000361927	NM_015101.2	232	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1360.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGGACGGG	NONE	.	.	Superfamily_domains:SSF53448,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,synonymous_variant,p.%3D,ENST00000361927,;COLGALT2,synonymous_variant,p.%3D,ENST00000546159,;COLGALT2,upstream_gene_variant,,ENST00000367520,;	1068	141	131	SUCCESS
KIF21B	23046	.	GRCh37	1	200946358	200946358	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776939102	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	47	0	ENST00000422435.2:c.4307G>T	p.Arg1436Leu	p.R1436L	ENST00000422435	NM_001252100.1	1436	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS58056.1	4307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCGGACG	NONE	byFrequency	.	PROSITE_profiles:PS50294,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000411831	.	31/35	.	.	.	.	.	.	.	.	rs776939102,COSM1733782	31/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,missense_variant,p.Arg1436Leu,ENST00000422435,;KIF21B,missense_variant,p.Arg1423Leu,ENST00000360529,;KIF21B,missense_variant,p.Arg1436Leu,ENST00000461742,;KIF21B,missense_variant,p.Arg1423Leu,ENST00000332129,;	4624	47	56	SUCCESS
KDM5B	10765	.	GRCh37	1	202702803	202702803	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754820992	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	74	0	ENST00000367265.3:c.3635G>T	p.Gly1212Val	p.G1212V	ENST00000367265	NM_006618.3	1212	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS30974.1	3635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCCCTGT	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Pfam_domain:PF00628,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3,PROSITE_profiles:PS50016	.	.	ENSP00000356234	.	23/27	.	.	.	.	.	.	.	.	rs754820992	23/27	PASS	ENST00000367265	Transcript	.	.	ENSG00000117139	18039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.11)	.	KDM5B_HUMAN	KDM5B	HGNC	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN	.	UPI0000032AA2	SNV	KDM5B,missense_variant,p.Gly1054Val,ENST00000235790,;KDM5B,missense_variant,p.Gly1248Val,ENST00000367264,;KDM5B,missense_variant,p.Gly1212Val,ENST00000367265,;KDM5B,non_coding_transcript_exon_variant,,ENST00000472822,;KDM5B,upstream_gene_variant,,ENST00000491153,;	4800	74	68	SUCCESS
ADIPOR1	51094	.	GRCh37	1	202917500	202917500	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	71	95	0	ENST00000340990.5:c.190G>T	p.Val64Leu	p.V64L	ENST00000340990	NM_015999.4	64	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS1430.1	190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF40	.	.	ENSP00000341785	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000340990	Transcript	.	.	ENSG00000159346	24040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.68)	.	ADR1_HUMAN	ADIPOR1	HGNC	C9JNM5_HUMAN,C9J0W7_HUMAN	.	UPI000003779A	SNV	ADIPOR1,missense_variant,p.Val64Leu,ENST00000436244,;ADIPOR1,missense_variant,p.Val64Leu,ENST00000367254,;ADIPOR1,missense_variant,p.Val64Leu,ENST00000340990,;ADIPOR1,missense_variant,p.Val64Leu,ENST00000426229,;ADIPOR1,missense_variant,p.Val64Leu,ENST00000417068,;ADIPOR1,upstream_gene_variant,,ENST00000495562,;	489	95	128	SUCCESS
OBSCN	84033	.	GRCh37	1	228474710	228474710	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs558072959	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	46	63	0	ENST00000422127.1:c.9514G>T	p.Ala3172Ser	p.A3172S	ENST00000422127	NM_001098623.2	3172	Gcc/Tcc	0	.	A:0	.	A:0.0014	.	T	A/S	protein_coding	YES	CCDS59204.1	10801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCCTGC	NONE	by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	.	ENSP00000455507	A:0	40/116	.	.	.	.	.	.	.	.	rs558072959	40/116	PASS	ENST00000570156	Transcript	.	A:0.0002	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	A:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala291Ser,ENST00000366707,;OBSCN,missense_variant,p.Ala291Ser,ENST00000366709,;OBSCN,missense_variant,p.Ala448Ser,ENST00000483539,;OBSCN,missense_variant,p.Ala3172Ser,ENST00000284548,;OBSCN,missense_variant,p.Ala2019Ser,ENST00000359599,;OBSCN,missense_variant,p.Ala3601Ser,ENST00000570156,;OBSCN,missense_variant,p.Ala3172Ser,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;	10875	63	58	SUCCESS
ZBTB18	10472	.	GRCh37	1	244218434	244218434	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	76	76	0	ENST00000358704.4:c.1358G>T	p.Gly453Val	p.G453V	ENST00000358704	NM_205768.2	453	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1622.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGGCAAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.02)	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,missense_variant,p.Gly453Val,ENST00000358704,;	1507	76	94	SUCCESS
OR2G2	81470	.	GRCh37	1	247751752	247751752	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	324	135	604	0	ENST00000320065.1:c.91T>G	p.Phe31Val	p.F31V	ENST00000320065	NM_001001915.1	31	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS31092.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TTCTATTTGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326349	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320065	Transcript	.	.	ENSG00000177489	15007	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR2G2_HUMAN	OR2G2	HGNC	.	.	UPI0000061EB9	SNV	OR2G2,missense_variant,p.Phe31Val,ENST00000320065,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	91	604	459	SUCCESS
FAM213B	0	.	GRCh37	1	2520399	2520399	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	96	0	ENST00000419916.2:c.589C>G	p.Pro197Ala	p.P197A	ENST00000419916	NM_152371.3	197	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS44.2	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCCAGGC	NONE	.	.	.	.	.	ENSP00000394405	.	6/7	.	.	.	.	.	.	.	.	COSM178376	6/7	PASS	ENST00000419916	Transcript	.	.	ENSG00000157870	28390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.835)	.	tolerated(0.18)	1	.	FAM213B	HGNC	J3KQD0_HUMAN	.	UPI0001E306A4	SNV	FAM213B,missense_variant,p.Pro185Ala,ENST00000444521,;FAM213B,missense_variant,p.Pro160Ala,ENST00000537325,;FAM213B,missense_variant,p.Pro197Ala,ENST00000419916,;FAM213B,missense_variant,p.Pro186Arg,ENST00000378427,;FAM213B,missense_variant,p.Pro167Ala,ENST00000378425,;FAM213B,missense_variant,p.Pro204Arg,ENST00000378424,;FAM213B,synonymous_variant,p.%3D,ENST00000465233,;FAM213B,synonymous_variant,p.%3D,ENST00000498083,;MMEL1,downstream_gene_variant,,ENST00000378412,;MMEL1,downstream_gene_variant,,ENST00000471840,;MMEL1,downstream_gene_variant,,ENST00000502556,;MMEL1,downstream_gene_variant,,ENST00000288709,;RP3-395M20.9,downstream_gene_variant,,ENST00000424215,;FAM213B,non_coding_transcript_exon_variant,,ENST00000464043,;FAM213B,non_coding_transcript_exon_variant,,ENST00000493183,;FAM213B,non_coding_transcript_exon_variant,,ENST00000481683,;FAM213B,non_coding_transcript_exon_variant,,ENST00000484099,;FAM213B,non_coding_transcript_exon_variant,,ENST00000474659,;FAM213B,non_coding_transcript_exon_variant,,ENST00000476686,;FAM213B,downstream_gene_variant,,ENST00000477045,;MMEL1,downstream_gene_variant,,ENST00000491941,;MMEL1,downstream_gene_variant,,ENST00000504800,;MMEL1,downstream_gene_variant,,ENST00000469962,;MMEL1,downstream_gene_variant,,ENST00000464195,;	610	96	80	SUCCESS
SYF2	25949	.	GRCh37	1	25558651	25558651	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	40	71	0	ENST00000236273.4:c.76G>T	p.Ala26Ser	p.A26S	ENST00000236273	NM_015484.4	26	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS259.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13264,hmmpanther:PTHR13264:SF5	.	.	ENSP00000236273	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000236273	Transcript	.	.	ENSG00000117614	19824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	tolerated(0.22)	.	SYF2_HUMAN	SYF2	HGNC	.	.	UPI0000073D39	SNV	SYF2,missense_variant,p.Ala26Ser,ENST00000354361,;SYF2,missense_variant,p.Ala26Ser,ENST00000236273,;SYF2,non_coding_transcript_exon_variant,,ENST00000476231,;SYF2,non_coding_transcript_exon_variant,,ENST00000474160,;	102	71	80	SUCCESS
DNAJC8	22826	.	GRCh37	1	28536505	28536505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	129	0	ENST00000263697.4:c.377G>T	p.Gly126Val	p.G126V	ENST00000263697	NM_014280.2	126	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41292.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCCTGCC	NONE	.	.	hmmpanther:PTHR15606	.	.	ENSP00000263697	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000263697	Transcript	.	.	ENSG00000126698	15470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	DNJC8_HUMAN	DNAJC8	HGNC	.	.	UPI0000072BF3	SNV	DNAJC8,missense_variant,p.Gly126Val,ENST00000263697,;DNAJC8,upstream_gene_variant,,ENST00000603289,;DNAJC8,non_coding_transcript_exon_variant,,ENST00000489277,;DNAJC8,downstream_gene_variant,,ENST00000488868,;DNAJC8,downstream_gene_variant,,ENST00000482674,;DNAJC8,upstream_gene_variant,,ENST00000470967,;	404	129	89	SUCCESS
PHACTR4	65979	.	GRCh37	1	28800595	28800595	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs746855923	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	133	0	ENST00000373839.3:c.1353C>G	p.Ser451Arg	p.S451R	ENST00000373839	NM_001048183.1	451	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS41294.1	1383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCTTTTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4	.	.	ENSP00000362942	.	6/13	.	.	.	.	.	.	.	.	rs746855923	6/13	PASS	ENST00000373836	Transcript	.	.	ENSG00000204138	25793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	tolerated(0.12)	.	PHAR4_HUMAN	PHACTR4	HGNC	.	.	UPI0000374EB3	SNV	PHACTR4,missense_variant,p.Ser461Arg,ENST00000373836,;PHACTR4,missense_variant,p.Ser451Arg,ENST00000373839,;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;	1597	133	124	SUCCESS
MEGF6	1953	.	GRCh37	1	3428670	3428670	+	synonymous_variant	Silent	SNP	C	C	A	rs764404541	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	60	155	0	ENST00000356575.4:c.876G>T	p.Gly292=	p.G292=	ENST00000356575	NM_001409.3	292	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41237.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCCTGC	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF29,hmmpanther:PTHR24035,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000348982	.	8/37	.	.	.	.	.	.	.	.	rs764404541	8/37	PASS	ENST00000356575	Transcript	.	.	ENSG00000162591	3232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,synonymous_variant,p.%3D,ENST00000356575,;MEGF6,synonymous_variant,p.%3D,ENST00000294599,;MEGF6,synonymous_variant,p.%3D,ENST00000485002,;	1103	155	153	SUCCESS
CLDN19	149461	.	GRCh37	1	43201511	43201511	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	60	0	ENST00000296387.1:c.626+38C>A		p.*209*	ENST00000296387	NM_001123395.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS471.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGTGGGG	NONE	.	.	.	.	.	ENSP00000296387	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296387	Transcript	.	.	ENSG00000164007	2040	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD19_HUMAN	CLDN19	HGNC	.	.	UPI000013E32D	SNV	CLDN19,missense_variant,p.His193Gln,ENST00000539749,;CLDN19,3_prime_UTR_variant,,ENST00000372539,;CLDN19,intron_variant,,ENST00000296387,;	.	60	65	SUCCESS
TNNI3K	51086	.	GRCh37	1	74957805	74957805	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	14	255	0	ENST00000326637.3:c.2206A>T	p.Ser736Cys	p.S736C	ENST00000326637	NM_015978.2	736	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	.	2509	RADIA|MUTECT|MUSE|VARSCANS	.	GTAACAGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257	.	.	ENSP00000359928	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000370891	Transcript	.	.	ENSG00000116783	19661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.919)	.	tolerated_low_confidence(0.06)	.	TNI3K_HUMAN	TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI00005E2707	SNV	TNNI3K,missense_variant,p.Ser837Cys,ENST00000370891,;FPGT-TNNI3K,missense_variant,p.Ser850Cys,ENST00000557284,;TNNI3K,missense_variant,p.Ser736Cys,ENST00000326637,;LRRC53,intron_variant,,ENST00000294635,;	2525	255	84	SUCCESS
SNX7	51375	.	GRCh37	1	99203828	99203828	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	107	0	ENST00000306121.3:c.1161G>C	p.Val387=	p.V387=	ENST00000306121	NM_015976.4	387	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS755.2	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTGGAATG	NONE	.	.	hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555	.	.	ENSP00000304429	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000306121	Transcript	.	.	ENSG00000162627	14971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX7_HUMAN	SNX7	HGNC	B7ZC83_HUMAN	.	UPI0000205396	SNV	SNX7,synonymous_variant,p.%3D,ENST00000306121,;SNX7,synonymous_variant,p.%3D,ENST00000529992,;SNX7,intron_variant,,ENST00000370189,;SNX7,intron_variant,,ENST00000528824,;	1170	107	75	SUCCESS
BPIFB4	149954	.	GRCh37	20	31672752	31672752	+	synonymous_variant	Silent	SNP	C	C	T	rs772317789	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	54	0	ENST00000375483.3:c.732C>T	p.Gly244=	p.G244=	ENST00000375483	NM_182519.2	244	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13213.2	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCGTGGG	NONE	byFrequency	.	hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000364632	.	4/16	.	.	.	.	.	.	.	.	rs772317789	4/16	PASS	ENST00000375483	Transcript	.	.	ENSG00000186191	16179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIB4_HUMAN	BPIFB4	HGNC	.	.	UPI0000206190	SNV	BPIFB4,synonymous_variant,p.%3D,ENST00000375483,;BPIFB4,intron_variant,,ENST00000445356,;	732	54	45	SUCCESS
OSER1	51526	.	GRCh37	20	42826208	42826208	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	100	0	ENST00000255174.2:c.363G>T	p.Leu121=	p.L121=	ENST00000255174	NM_016470.7	121	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13327.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCCAGCCC	NONE	.	.	hmmpanther:PTHR31383,hmmpanther:PTHR31383:SF1,Pfam_domain:PF05604	.	.	ENSP00000362061	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372970	Transcript	.	.	ENSG00000132823	16105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSER1_HUMAN	OSER1	HGNC	.	.	UPI000004A0E4	SNV	OSER1,synonymous_variant,p.%3D,ENST00000372970,;OSER1,synonymous_variant,p.%3D,ENST00000255174,;	544	100	91	SUCCESS
TAF4	6874	.	GRCh37	20	60578221	60578221	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	96	0	ENST00000252996.4:c.2481G>T	p.Ser827=	p.S827=	ENST00000252996	NM_003185.3	827	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33500.1	2481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAACGAACC	NONE	.	.	hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF13	.	.	ENSP00000252996	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000252996	Transcript	.	.	ENSG00000130699	11537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF4_HUMAN	TAF4	HGNC	.	.	UPI000020630A	SNV	TAF4,synonymous_variant,p.%3D,ENST00000252996,;TAF4,synonymous_variant,p.%3D,ENST00000488539,;TAF4,upstream_gene_variant,,ENST00000474089,;TAF4,non_coding_transcript_exon_variant,,ENST00000436129,;TAF4,downstream_gene_variant,,ENST00000609041,;	2481	96	95	SUCCESS
CHRNA4	1137	.	GRCh37	20	61981117	61981117	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768292011	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	40	0	ENST00000370263.4:c.1646G>C	p.Arg549Pro	p.R549P	ENST00000370263	NM_000744.6	549	cGc/cCc	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS13517.1	1646	RADIA|MUTECT|MUSE	.	TGCTGCGGGTC	NONE	.	.	hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Pfam_domain:PF02932	.	.	ENSP00000359285	.	5/6	.	.	.	.	.	.	.	.	rs768292011	5/6	PASS	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.3)	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,missense_variant,p.Arg549Pro,ENST00000370263,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;	1868	40	26	SUCCESS
SLC37A1	54020	.	GRCh37	21	43954849	43954849	+	synonymous_variant	Silent	SNP	C	C	T	rs769589128	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	66	0	ENST00000352133.2:c.180C>T	p.Asp60=	p.D60=	ENST00000352133		60	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS13689.1	180	RADIA|VARSCANS	.	GCTGACGTCAG	NONE	byFrequency	.	Superfamily_domains:SSF103473,PIRSF_domain:PIRSF002808,Gene3D:1.20.1250.20,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF225,PROSITE_profiles:PS50850	.	.	ENSP00000344648	.	4/20	.	.	.	.	.	.	.	.	rs769589128,COSM1242859	4/20	PASS	ENST00000352133	Transcript	.	.	ENSG00000160190	11024	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	GLPT_HUMAN	SLC37A1	HGNC	.	.	UPI00001AEB81	SNV	SLC37A1,synonymous_variant,p.%3D,ENST00000398341,;SLC37A1,synonymous_variant,p.%3D,ENST00000352133,;	1162	66	37	SUCCESS
KRTAP10-1	386677	.	GRCh37	21	45959880	45959880	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782560857	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	49	0	ENST00000400375.1:c.154C>A	p.Arg52Ser	p.R52S	ENST00000400375	NM_198691.2	52	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS42954.1	154	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGGCTCA	NONE	byFrequency	.	hmmpanther:PTHR23262:SF30,hmmpanther:PTHR23262	.	.	ENSP00000383226	.	1/1	.	.	.	.	.	.	.	.	rs782560857	1/1	PASS	ENST00000400375	Transcript	.	.	ENSG00000215455	22966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious(0.03)	.	KR101_HUMAN	KRTAP10-1	HGNC	.	.	UPI00003D4D6C	SNV	KRTAP10-1,missense_variant,p.Arg52Ser,ENST00000400375,;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000323084,;	199	49	40	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105924415	105924415	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369840873	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	43	0	ENST00000258449.1:c.344G>T	p.Arg115Leu	p.R115L	ENST00000258449	NM_001142621.1	115	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS2067.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCGGGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50219,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00780	.	T:0.0001	ENSP00000377027	.	2/12	.	.	.	.	.	.	.	.	rs369840873	2/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.Arg115Leu,ENST00000393359,;TGFBRAP1,missense_variant,p.Arg115Leu,ENST00000258449,;	771	43	43	SUCCESS
RANBP2	5903	.	GRCh37	2	109380318	109380318	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764978550	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	200	0	ENST00000283195.6:c.3323G>T	p.Gly1108Val	p.G1108V	ENST00000283195	NM_006267.4	1108	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2079.1	3323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGAATTT	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	rs764978550	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Gly1108Val,ENST00000283195,;	3449	200	110	SUCCESS
PRPF40A	55660	.	GRCh37	2	153573934	153573934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	76	0	ENST00000410080.1:c.20G>T	p.Arg7Leu	p.R7L	ENST00000410080	NM_017892.3	7	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS46430.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCGGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864	.	.	ENSP00000386458	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000410080	Transcript	.	.	ENSG00000196504	16463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	tolerated_low_confidence(0.24)	.	PR40A_HUMAN	PRPF40A	HGNC	Q4ZG51_HUMAN	.	UPI00015743D9	SNV	PRPF40A,missense_variant,p.Arg7Leu,ENST00000410080,;PRPF40A,missense_variant,p.Arg13Leu,ENST00000448428,;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,upstream_gene_variant,,ENST00000545856,;ARL6IP6,upstream_gene_variant,,ENST00000326446,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000486100,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;ARL6IP6,upstream_gene_variant,,ENST00000495469,;PRPF40A,missense_variant,p.Arg15Leu,ENST00000354363,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000450303,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;ARL6IP6,upstream_gene_variant,,ENST00000455875,;PRPF40A,upstream_gene_variant,,ENST00000489741,;	562	76	71	SUCCESS
TTN	7273	.	GRCh37	2	179489356	179489356	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs886042406	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	153	1	ENST00000591111.1:c.39728A>G	p.Lys13243Arg	p.K13243R	ENST00000591111		13243	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS59435.1	44651	RADIA|VARSCANS	.	ACCATTTCACC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	242/363	.	.	.	.	.	.	.	.	.	242/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys5944Arg,ENST00000359218,;TTN,missense_variant,p.Lys6011Arg,ENST00000342175,;TTN,missense_variant,p.Lys12316Arg,ENST00000342992,;TTN,missense_variant,p.Lys13243Arg,ENST00000591111,;TTN,missense_variant,p.Lys14884Arg,ENST00000589042,;TTN,missense_variant,p.Lys5819Arg,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;	44876	154	31	SUCCESS
TRAK2	66008	.	GRCh37	2	202251196	202251196	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	116	0	ENST00000332624.3:c.1708C>T	p.Leu570=	p.L570=	ENST00000332624	NM_015049.2	570	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2347.1	1708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAGAGTTT	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,synonymous_variant,p.%3D,ENST00000332624,;STRADB,upstream_gene_variant,,ENST00000458269,;	2137	116	49	SUCCESS
MPP4	58538	.	GRCh37	2	202557682	202557682	+	synonymous_variant	Silent	SNP	C	C	T	rs201304506	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	97	0	ENST00000409474.3:c.150G>A	p.Val50=	p.V50=	ENST00000409474	NM_033066.2	50	gtG/gtA	0	.	T:0.0008	.	T:0	.	T	V	protein_coding	YES	CCDS46491.1	150	RADIA|MUTECT|MUSE|VARSCANS	.	AGACACACTCC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51022,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,SMART_domains:SM00569	T:0	.	ENSP00000387278	T:0	3/22	.	.	.	.	.	.	.	.	rs201304506	3/22	PASS	ENST00000409474	Transcript	.	T:0.0002	ENSG00000082126	13680	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	MPP4_HUMAN	MPP4	HGNC	.	.	UPI000050A341	SNV	MPP4,synonymous_variant,p.%3D,ENST00000315506,;MPP4,synonymous_variant,p.%3D,ENST00000396886,;MPP4,synonymous_variant,p.%3D,ENST00000428900,;MPP4,synonymous_variant,p.%3D,ENST00000409474,;MPP4,synonymous_variant,p.%3D,ENST00000359962,;MPP4,synonymous_variant,p.%3D,ENST00000447335,;MPP4,synonymous_variant,p.%3D,ENST00000409143,;MPP4,synonymous_variant,p.%3D,ENST00000602867,;MPP4,synonymous_variant,p.%3D,ENST00000409818,;MPP4,non_coding_transcript_exon_variant,,ENST00000486212,;MPP4,non_coding_transcript_exon_variant,,ENST00000483841,;	358	97	35	SUCCESS
TNS1	7145	.	GRCh37	2	218745712	218745712	+	synonymous_variant	Silent	SNP	C	C	A	rs755013483	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	52	0	ENST00000171887.4:c.963G>T	p.Pro321=	p.P321=	ENST00000171887	NM_022648.4	321	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2407.1	963	RADIA|VARSCANS	.	ACGCTCGGCCC	NONE	byFrequency	.	hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	.	.	ENSP00000171887	.	16/33	.	.	.	.	.	.	.	.	rs755013483	16/33	oxog	ENST00000171887	Transcript	.	.	ENSG00000079308	11973	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TENS1_HUMAN	TNS1	HGNC	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN	.	UPI0000456EEB	SNV	TNS1,synonymous_variant,p.%3D,ENST00000413554,;TNS1,synonymous_variant,p.%3D,ENST00000171887,;TNS1,synonymous_variant,p.%3D,ENST00000453356,;TNS1,synonymous_variant,p.%3D,ENST00000446903,;TNS1,synonymous_variant,p.%3D,ENST00000419504,;TNS1,synonymous_variant,p.%3D,ENST00000310858,;TNS1,synonymous_variant,p.%3D,ENST00000430930,;TNS1,non_coding_transcript_exon_variant,,ENST00000479185,;	1416	52	37	SUCCESS
ABCB6	10058	.	GRCh37	2	220079777	220079777	+	synonymous_variant	Silent	SNP	C	C	A	rs548516506	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	100	0	ENST00000265316.3:c.1182G>T	p.Thr394=	p.T394=	ENST00000265316	NM_005689.2	394	acG/acT	0	.	T:0	.	T:0	.	A	T	protein_coding	YES	CCDS2436.1	1182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCGTGGG	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	T:0	.	ENSP00000265316	T:0	6/19	.	.	.	.	.	.	.	.	rs548516506	6/19	PASS	ENST00000265316	Transcript	.	T:0.0002	ENSG00000115657	47	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	ABCB6_HUMAN	ABCB6	HGNC	U3THN0_HUMAN,H7C1R6_HUMAN	.	UPI000004C4BA	SNV	ABCB6,synonymous_variant,p.%3D,ENST00000265316,;ABCB6,synonymous_variant,p.%3D,ENST00000439002,;ABCB6,synonymous_variant,p.%3D,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000361242,;ATG9A,downstream_gene_variant,,ENST00000396761,;ATG9A,downstream_gene_variant,,ENST00000409618,;ABCB6,3_prime_UTR_variant,,ENST00000452545,;ABCB6,3_prime_UTR_variant,,ENST00000417678,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,non_coding_transcript_exon_variant,,ENST00000497882,;ABCB6,non_coding_transcript_exon_variant,,ENST00000492953,;ABCB6,non_coding_transcript_exon_variant,,ENST00000496984,;ABCB6,intron_variant,,ENST00000448398,;ABCB6,upstream_gene_variant,,ENST00000487380,;ABCB6,upstream_gene_variant,,ENST00000485773,;ABCB6,upstream_gene_variant,,ENST00000494639,;ABCB6,upstream_gene_variant,,ENST00000443805,;ABCB6,upstream_gene_variant,,ENST00000492543,;ATG9A,downstream_gene_variant,,ENST00000409033,;	1499	100	92	SUCCESS
TRIP12	9320	.	GRCh37	2	230667054	230667054	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	100	0	ENST00000283943.5:c.2895C>T	p.Ala965=	p.A965=	ENST00000283943	NM_004238.1	965	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33391.1	2895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGGCTGT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,Low_complexity_(Seg):seg	.	.	ENSP00000283943	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000487178,;TRIP12,downstream_gene_variant,,ENST00000479037,;	3074	100	64	SUCCESS
C2orf71	0	.	GRCh37	2	29294437	29294437	+	synonymous_variant	Silent	SNP	G	G	A	rs767685634	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	37	0	ENST00000331664.5:c.2691C>T	p.Thr897=	p.T897=	ENST00000331664	NM_001029883.2	897	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42669.1	2691	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGTGCT	NONE	byFrequency	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	rs767685634	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,synonymous_variant,p.%3D,ENST00000331664,;	2691	37	46	SUCCESS
AUP1	550	.	GRCh37	2	74755115	74755115	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs767233879	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	23	137	0	ENST00000377526.3:c.690del	p.Arg231AlafsTer3	p.R231Afs*3	ENST00000377526	NM_181575.3	230	caT/ca	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS42702.1	690	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGGCGATGAAC	NONE	.	.	hmmpanther:PTHR15486,Superfamily_domains:0039877	.	.	ENSP00000366748	.	7/12	.	.	.	.	.	.	.	.	rs767233879	7/12	PASS	ENST00000377526	Transcript	.	.	ENSG00000115307	891	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AUP1_HUMAN	AUP1	HGNC	.	.	UPI000000163A	deletion	AUP1,frameshift_variant,p.Arg231AlafsTer3,ENST00000377526,;HTRA2,upstream_gene_variant,,ENST00000352222,;HTRA2,upstream_gene_variant,,ENST00000258080,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;HTRA2,upstream_gene_variant,,ENST00000437202,;LOXL3,downstream_gene_variant,,ENST00000264094,;LOXL3,downstream_gene_variant,,ENST00000409249,;DQX1,upstream_gene_variant,,ENST00000451518,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;HTRA2,upstream_gene_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000495597,;AUP1,frameshift_variant,p.Arg231AlafsTer3,ENST00000425118,;AUP1,non_coding_transcript_exon_variant,,ENST00000463900,;AUP1,non_coding_transcript_exon_variant,,ENST00000486234,;AUP1,non_coding_transcript_exon_variant,,ENST00000464887,;AUP1,non_coding_transcript_exon_variant,,ENST00000466894,;HTRA2,upstream_gene_variant,,ENST00000484352,;HTRA2,upstream_gene_variant,,ENST00000465521,;DQX1,upstream_gene_variant,,ENST00000483555,;DQX1,upstream_gene_variant,,ENST00000473508,;LOXL3,downstream_gene_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000462297,;HTRA2,upstream_gene_variant,,ENST00000482205,;DQX1,upstream_gene_variant,,ENST00000418139,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,downstream_gene_variant,,ENST00000472800,;	1000	137	135	SUCCESS
IGKV2D-24	28885	.	GRCh37	2	90044403	90044403	+	synonymous_variant	Silent	SNP	C	C	A	rs371304835	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	45	665	0	ENST00000462693.1:c.324C>A	p.Val108=	p.V108=	ENST00000462693		108	gtC/gtA	0	T:0	.	.	.	.	A	V	IG_V_gene	YES	.	324	RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCGGGGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000417136	.	2/2	.	.	.	.	.	.	.	.	rs371304835	2/2	PASS	ENST00000462693	Transcript	.	.	ENSG00000241566	5797	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGKV2D-24	HGNC	.	.	UPI0000176EBA	SNV	IGKV2D-24,synonymous_variant,p.%3D,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;	354	665	206	SUCCESS
PLXND1	23129	.	GRCh37	3	129279234	129279234	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201100072	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	136	0	ENST00000324093.4:c.5072G>A	p.Arg1691Gln	p.R1691Q	ENST00000324093	NM_015103.2	1691	cGg/cAg	0	.	G:0.0008	.	G:0	.	T	R/Q	protein_coding	YES	CCDS33854.1	5072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCCGGTGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337	G:0	.	ENSP00000317128	G:0	31/36	.	.	.	.	.	.	.	.	rs201100072	31/36	PASS	ENST00000324093	Transcript	.	G:0.0002	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	G:0	deleterious(0.01)	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Arg1691Gln,ENST00000324093,;PLXND1,missense_variant,p.Arg1691Gln,ENST00000393239,;PLXND1,missense_variant,p.Arg35Gln,ENST00000506979,;PLXND1,upstream_gene_variant,,ENST00000504689,;PLXND1,missense_variant,p.Arg286Gln,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000512807,;PLXND1,non_coding_transcript_exon_variant,,ENST00000508630,;PLXND1,upstream_gene_variant,,ENST00000501038,;PLXND1,downstream_gene_variant,,ENST00000503166,;PLXND1,upstream_gene_variant,,ENST00000504524,;PLXND1,downstream_gene_variant,,ENST00000504979,;	5251	136	134	SUCCESS
CLSTN2	64084	.	GRCh37	3	140281020	140281020	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	84	0	ENST00000458420.3:c.2082A>T	p.Leu694Phe	p.L694F	ENST00000458420	NM_022131.2	694	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS3112.1	2082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTAGATTT	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3	.	.	ENSP00000402460	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Leu694Phe,ENST00000458420,;	2272	84	87	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	48	230	0	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS2694.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCATTCTG	SITE|p.H36P|c.107A>C|34,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.H36Y|c.106C>T|5,CODON|p.H36R|c.107A>G|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5678,COSM27378	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.397)	.	deleterious(0.04)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	387	230	121	SUCCESS
DOCK3	1795	.	GRCh37	3	51398052	51398052	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	41	1	ENST00000266037.9:c.4995C>T	p.Thr1665=	p.T1665=	ENST00000266037	NM_004947.4	1665	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46835.1	4995	SOMATICSNIPER|MUSE|VARSCANS	.	ATGACCCACCG	NONE	.	.	hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317	.	.	ENSP00000266037	.	47/53	.	.	.	.	.	.	.	.	.	47/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,synonymous_variant,p.%3D,ENST00000266037,;	5018	42	32	SUCCESS
ROBO2	6092	.	GRCh37	3	77651546	77651546	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751528165	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	104	219	0	ENST00000461745.1:c.3040G>A	p.Asp1014Asn	p.D1014N	ENST00000461745	NM_002942.4	1014	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54609.1	3088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGATCTG	SITE|p.D1014N|c.3040G>A|3,SITE|p.D1030N|c.3088G>A|3	byFrequency	.	hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489	.	.	ENSP00000417335	.	21/27	.	.	.	.	.	.	.	.	rs751528165,COSM1048533,COSM1048534	21/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.555)	.	deleterious(0)	0,1,1	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Asp1034Asn,ENST00000602589,;ROBO2,missense_variant,p.Asp89Asn,ENST00000471893,;ROBO2,missense_variant,p.Asp1030Asn,ENST00000487694,;ROBO2,missense_variant,p.Asp1014Asn,ENST00000332191,;ROBO2,missense_variant,p.Asp1014Asn,ENST00000461745,;ROBO2,missense_variant,p.Asp171Asn,ENST00000490991,;ROBO2,upstream_gene_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	3367	219	254	SUCCESS
KCTD8	386617	.	GRCh37	4	44177219	44177219	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	141	0	ENST00000360029.3:c.1010A>G	p.Lys337Arg	p.K337R	ENST00000360029	NM_198353.2	337	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3467.1	1010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTTTCCTA	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.18)	.	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,missense_variant,p.Lys73Arg,ENST00000515268,;KCTD8,missense_variant,p.Lys337Arg,ENST00000360029,;	1294	141	100	SUCCESS
CTNND2	1501	.	GRCh37	5	11082847	11082847	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	151	0	ENST00000304623.8:c.2749C>T	p.Arg917Trp	p.R917W	ENST00000304623	NM_001332.2	917	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3881.1	2749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCGCAGCG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,PROSITE_profiles:PS50176	.	.	ENSP00000307134	.	16/22	.	.	.	.	.	.	.	.	COSM339179	16/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Arg917Trp,ENST00000304623,;CTNND2,missense_variant,p.Arg859Trp,ENST00000359640,;CTNND2,missense_variant,p.Arg580Trp,ENST00000503622,;CTNND2,missense_variant,p.Arg826Trp,ENST00000511377,;CTNND2,missense_variant,p.Arg484Trp,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Arg696Trp,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2939	151	104	SUCCESS
REEP5	7905	.	GRCh37	5	112238112	112238112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	54	132	0	ENST00000379638.4:c.316T>C	p.Phe106Leu	p.F106L	ENST00000379638	NM_005669.4	106	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS4109.2	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAAGATAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF41,Pfam_domain:PF03134	.	.	ENSP00000368959	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000379638	Transcript	.	.	ENSG00000129625	30077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	tolerated(0.68)	.	REEP5_HUMAN	REEP5	HGNC	.	.	UPI00001B24A5	SNV	REEP5,missense_variant,p.Phe106Leu,ENST00000545426,;REEP5,missense_variant,p.Phe97Leu,ENST00000261482,;REEP5,missense_variant,p.Phe106Leu,ENST00000379638,;REEP5,missense_variant,p.Phe106Leu,ENST00000513339,;REEP5,intron_variant,,ENST00000504247,;AC008536.1,downstream_gene_variant,,ENST00000579867,;CTC-487M23.7,downstream_gene_variant,,ENST00000607284,;REEP5,non_coding_transcript_exon_variant,,ENST00000474542,;REEP5,missense_variant,p.Phe120Leu,ENST00000511865,;REEP5,non_coding_transcript_exon_variant,,ENST00000497856,;	665	132	120	SUCCESS
PCDHA14	26307	.	GRCh37	5	140242214	140242214	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	82	0	ENST00000506751.1:n.1355C>A		p.*452*	ENST00000506751				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCCACGA	NONE	.	.	.	.	.	ENSP00000424817	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000502505	Transcript	.	.	ENSG00000249034	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC005609.1	Clone_based_ensembl_gene	Q8NB83_HUMAN	.	UPI0000073A41	SNV	AC005609.1,3_prime_UTR_variant,,ENST00000502505,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;	1011	82	75	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140798829	140798829	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	25	136	0	ENST00000398594.2:c.1403G>A	p.Gly468Asp	p.G468D	ENST00000398594	NM_018927.3	468	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47293.1	1403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGGTGCCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,missense_variant,p.Gly468Asp,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1403	136	111	SUCCESS
SLC45A2	51151	.	GRCh37	5	33984453	33984453	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	40	0	ENST00000296589.4:c.236T>C	p.Ile79Thr	p.I79T	ENST00000296589	NM_016180.3	79	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3901.1	236	RADIA|VARSCANS	.	CCAGGATGGGG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF13347,Gene3D:1.20.1250.20,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF28	.	.	ENSP00000296589	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000296589	Transcript	1	.	ENSG00000164175	16472	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.061)	.	deleterious(0.01)	.	S45A2_HUMAN	SLC45A2	HGNC	.	.	UPI00001AEC19	SNV	SLC45A2,missense_variant,p.Ile79Thr,ENST00000342059,;SLC45A2,missense_variant,p.Ile79Thr,ENST00000382102,;SLC45A2,missense_variant,p.Ile79Thr,ENST00000345083,;SLC45A2,missense_variant,p.Ile79Thr,ENST00000509381,;SLC45A2,missense_variant,p.Ile79Thr,ENST00000296589,;SLC45A2,upstream_gene_variant,,ENST00000510600,;AMACR,downstream_gene_variant,,ENST00000502637,;AMACR,downstream_gene_variant,,ENST00000382085,;AMACR,downstream_gene_variant,,ENST00000382072,;AMACR,downstream_gene_variant,,ENST00000335606,;AMACR,downstream_gene_variant,,ENST00000514195,;SLC45A2,non_coding_transcript_exon_variant,,ENST00000505056,;AMACR,downstream_gene_variant,,ENST00000506639,;RP11-1084J3.4,downstream_gene_variant,,ENST00000382079,;	383	40	33	SUCCESS
SEPP1	0	.	GRCh37	5	42804757	42804757	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	101	278	0	ENST00000506577.1:c.534+1G>T		p.X178_splice	ENST00000506577		178		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43311.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACCGTGA	NONE	.	.	.	.	.	ENSP00000420939	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000514985	Transcript	.	.	ENSG00000250722	10751	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,splice_donor_variant,,ENST00000506577,;SEPP1,splice_donor_variant,,ENST00000510965,;SEPP1,splice_donor_variant,,ENST00000511224,;SEPP1,splice_donor_variant,,ENST00000514218,;SEPP1,splice_donor_variant,,ENST00000514985,;SEPP1,intron_variant,,ENST00000507920,;CCDC152,downstream_gene_variant,,ENST00000388827,;CCDC152,downstream_gene_variant,,ENST00000361970,;CTD-2325A15.5,upstream_gene_variant,,ENST00000606056,;SEPP1,splice_donor_variant,,ENST00000509276,;SEPP1,intron_variant,,ENST00000513303,;SEPP1,downstream_gene_variant,,ENST00000515626,;SEPP1,splice_donor_variant,,ENST00000512980,;SEPP1,splice_donor_variant,,ENST00000514403,;SEPP1,downstream_gene_variant,,ENST00000506078,;SEPP1,downstream_gene_variant,,ENST00000510650,;SEPP1,downstream_gene_variant,,ENST00000508937,;SEPP1,downstream_gene_variant,,ENST00000505309,;	.	278	297	SUCCESS
NT5DC1	221294	.	GRCh37	6	116542390	116542390	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	56	345	0	ENST00000319550.4:c.703G>A	p.Gly235Arg	p.G235R	ENST00000319550	NM_152729.2	235	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS5104.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGGGTGA	NONE	.	.	hmmpanther:PTHR12103:SF13,hmmpanther:PTHR12103,Pfam_domain:PF05761,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	.	.	ENSP00000326858	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000319550	Transcript	.	.	ENSG00000178425	21556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NT5D1_HUMAN	NT5DC1	HGNC	.	.	UPI000020E135	SNV	NT5DC1,missense_variant,p.Gly235Arg,ENST00000319550,;NT5DC1,missense_variant,p.Gly60Arg,ENST00000460749,;	785	345	169	SUCCESS
ALDH8A1	64577	.	GRCh37	6	135265028	135265028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	35	0	ENST00000265605.2:c.215T>C	p.Val72Ala	p.V72A	ENST00000265605	NM_022568.3	72	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS5171.1	215	MUTECT|VARSCANS	.	TCAGGACCCGT	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF42,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720	.	.	ENSP00000265605	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000265605	Transcript	.	.	ENSG00000118514	15471	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	deleterious(0.01)	.	AL8A1_HUMAN	ALDH8A1	HGNC	.	.	UPI000004F8AE	SNV	ALDH8A1,missense_variant,p.Val72Ala,ENST00000367847,;ALDH8A1,missense_variant,p.Val72Ala,ENST00000367845,;ALDH8A1,missense_variant,p.Val72Ala,ENST00000265605,;ALDH8A1,5_prime_UTR_variant,,ENST00000534012,;RP11-349J5.2,downstream_gene_variant,,ENST00000416448,;ALDH8A1,missense_variant,p.Val72Ala,ENST00000349305,;	284	35	40	SUCCESS
UNC93A	54346	.	GRCh37	6	167708073	167708073	+	synonymous_variant	Silent	SNP	G	G	A	rs558415122	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	39	93	0	ENST00000230256.3:c.156G>A	p.Leu52=	p.L52=	ENST00000230256	NM_018974.3	52	ctG/ctA	0	.	T:0	.	T:0	.	A	L	protein_coding	YES	CCDS5300.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGTCCTC	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Pfam_domain:PF05978,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	T:0	.	ENSP00000230256	T:0	2/8	.	.	.	.	.	.	.	.	rs558415122	2/8	PASS	ENST00000230256	Transcript	.	T:0.0002	ENSG00000112494	12570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	UN93A_HUMAN	UNC93A	HGNC	D6RFH7_HUMAN	.	UPI0000062351	SNV	UNC93A,synonymous_variant,p.%3D,ENST00000503433,;UNC93A,synonymous_variant,p.%3D,ENST00000366829,;UNC93A,synonymous_variant,p.%3D,ENST00000230256,;UNC93A,non_coding_transcript_exon_variant,,ENST00000366830,;UNC93A,non_coding_transcript_exon_variant,,ENST00000504706,;	331	93	109	SUCCESS
KIF13A	63971	.	GRCh37	6	17764367	17764367	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	51	138	0	ENST00000259711.6:c.5392G>T	p.Ala1798Ser	p.A1798S	ENST00000259711	NM_022113.5	1798	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47381.1	5392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGCTGCCT	NONE	.	.	.	.	.	ENSP00000259711	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000259711	Transcript	.	.	ENSG00000137177	14566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.17)	.	KI13A_HUMAN	KIF13A	HGNC	.	.	UPI0000E20DA3	SNV	KIF13A,missense_variant,p.Ala1763Ser,ENST00000378826,;KIF13A,missense_variant,p.Ala1798Ser,ENST00000259711,;KIF13A,missense_variant,p.Ala1763Ser,ENST00000378816,;KIF13A,missense_variant,p.Ala1750Ser,ENST00000378843,;KIF13A,intron_variant,,ENST00000378814,;KIF13A,intron_variant,,ENST00000502297,;	5498	138	123	SUCCESS
ZNF192P1	651302	.	GRCh37	6	28134514	28134514	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	83	0	ENST00000440790.2:n.617G>T		p.*206*	ENST00000440790				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGTTCGA	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000440790	Transcript	.	.	ENSG00000226314	18777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF192P1	HGNC	.	.	.	SNV	ZNF192P1,non_coding_transcript_exon_variant,,ENST00000562227,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000440790,;ZNF192P1,downstream_gene_variant,,ENST00000570126,;ZNF192P1,downstream_gene_variant,,ENST00000570042,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000565888,;	617	83	58	SUCCESS
COL11A2	1302	.	GRCh37	6	33144991	33144991	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	60	0	ENST00000374708.4:c.1725G>T	p.Gly575=	p.G575=	ENST00000374708	NM_080681.2	575	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43452.1	1725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCCCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	22/64	.	.	.	.	.	.	.	.	.	22/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,synonymous_variant,p.%3D,ENST00000395197,;COL11A2,synonymous_variant,p.%3D,ENST00000374713,;COL11A2,synonymous_variant,p.%3D,ENST00000361917,;COL11A2,synonymous_variant,p.%3D,ENST00000374712,;COL11A2,synonymous_variant,p.%3D,ENST00000357486,;COL11A2,synonymous_variant,p.%3D,ENST00000374708,;COL11A2,synonymous_variant,p.%3D,ENST00000341947,;COL11A2,synonymous_variant,p.%3D,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	1984	60	51	SUCCESS
DNAH8	1769	.	GRCh37	6	38747836	38747836	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	105	0	ENST00000359357.3:c.1483A>T	p.Lys495Ter	p.K495*	ENST00000359357		495	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	.	1483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTAAGAAG	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	13/91	.	.	.	.	.	.	.	.	.	13/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,stop_gained,p.Lys495Ter,ENST00000359357,;DNAH8,stop_gained,p.Lys700Ter,ENST00000327475,;DNAH8,stop_gained,p.Lys495Ter,ENST00000441566,;DNAH8,stop_gained,p.Lys712Ter,ENST00000449981,;	1737	105	88	SUCCESS
KLHL31	401265	.	GRCh37	6	53517092	53517092	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	60	0	ENST00000370905.3:c.1209C>A	p.Ala403=	p.A403=	ENST00000370905	NM_001003760.4	403	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34478.1	1209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGGCCAG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF58,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000359942	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370905	Transcript	.	.	ENSG00000124743	21353	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH31_HUMAN	KLHL31	HGNC	.	.	UPI000006D624	SNV	KLHL31,synonymous_variant,p.%3D,ENST00000407079,;KLHL31,synonymous_variant,p.%3D,ENST00000370905,;	1350	61	74	SUCCESS
IQUB	154865	.	GRCh37	7	123143008	123143008	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1450165298	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	40	162	1	ENST00000324698.6:c.857G>A	p.Arg286Lys	p.R286K	ENST00000324698	NM_178827.4	286	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS5787.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCCTACAA	BUFFER|p.T288M|c.863C>T|3	.	.	hmmpanther:PTHR21074:SF0,hmmpanther:PTHR21074	.	.	ENSP00000417769	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000466202	Transcript	.	.	ENSG00000164675	21995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	tolerated(0.07)	.	IQUB_HUMAN	IQUB	HGNC	.	.	UPI000013E3DF	SNV	IQUB,missense_variant,p.Arg286Lys,ENST00000324698,;IQUB,missense_variant,p.Arg286Lys,ENST00000466202,;IQUB,missense_variant,p.Arg286Lys,ENST00000434450,;IQUB,non_coding_transcript_exon_variant,,ENST00000488987,;IQUB,missense_variant,p.Arg286Lys,ENST00000484508,;IQUB,missense_variant,p.Arg286Lys,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,;	1434	163	69	SUCCESS
AGBL3	340351	.	GRCh37	7	134717660	134717660	+	frameshift_variant	Frame_Shift_Ins	INS	G	G	TA	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	173	0	ENST00000436302.2:c.484delinsTA	p.Val162TyrfsTer5	p.V162Yfs*5	ENST00000436302	NM_178563.3	162	Gtg/TAtg	0	.	.	.	.	.	TA	V/YX	protein_coding	YES	CCDS47718.1	484	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CAGCCTGTGGAT	NONE	.	.	hmmpanther:PTHR12756:SF6,hmmpanther:PTHR12756	.	.	ENSP00000388275	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000436302	Transcript	.	.	ENSG00000146856	27981	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC3_HUMAN	AGBL3	HGNC	.	.	UPI000192952B	substitution	AGBL3,frameshift_variant,p.Val136TyrfsTer5,ENST00000458078,;AGBL3,frameshift_variant,p.Val162TyrfsTer5,ENST00000436302,;AGBL3,frameshift_variant,p.Val162TyrfsTer5,ENST00000435976,;AGBL3,frameshift_variant,p.Val162TyrfsTer5,ENST00000275763,;	737	173	98	SUCCESS
SEMA3D	223117	.	GRCh37	7	84671523	84671523	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	150	0	ENST00000284136.6:c.940G>A	p.Gly314Arg	p.G314R	ENST00000284136	NM_152754.2	314	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34676.1	940	RADIA|VARSCANS	.	ACTTCCAGGAA	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	.	ENSP00000284136	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,missense_variant,p.Gly314Arg,ENST00000284136,;SEMA3D,upstream_gene_variant,,ENST00000484038,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000463315,;	984	150	35	SUCCESS
SMC2	10592	.	GRCh37	9	106894408	106894408	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	113	463	0	ENST00000286398.7:c.3108+2T>G		p.X1036_splice	ENST00000286398	NM_006444.2	1036		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35086.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTACTTT	NONE	.	.	.	.	.	ENSP00000286398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286398	Transcript	.	.	ENSG00000136824	14011	.	.	HIGH	22/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC2_HUMAN	SMC2	HGNC	Q5T821_HUMAN	.	UPI000013DE44	SNV	SMC2,splice_donor_variant,,ENST00000303219,;SMC2,splice_donor_variant,,ENST00000374793,;SMC2,splice_donor_variant,,ENST00000286398,;SMC2,splice_donor_variant,,ENST00000374787,;SMC2,splice_donor_variant,,ENST00000493955,;	.	463	264	SUCCESS
CACNA1B	774	.	GRCh37	9	140953173	140953173	+	synonymous_variant	Silent	SNP	G	G	C	rs199714779	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	89	0	ENST00000371372.1:c.4461G>C	p.Val1487=	p.V1487=	ENST00000371372	NM_001243812.1	1487	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS59522.1	4461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGCTGAT	NONE	byCluster	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000360423	.	29/47	.	.	.	.	.	.	.	.	rs199714779	29/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,synonymous_variant,p.%3D,ENST00000371355,;CACNA1B,synonymous_variant,p.%3D,ENST00000371357,;CACNA1B,synonymous_variant,p.%3D,ENST00000277549,;CACNA1B,synonymous_variant,p.%3D,ENST00000277551,;CACNA1B,synonymous_variant,p.%3D,ENST00000371363,;CACNA1B,synonymous_variant,p.%3D,ENST00000371372,;	4606	89	91	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84609195	84609195	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	99	0	ENST00000344803.2:c.3810G>T	p.Gln1270His	p.Q1270H	ENST00000344803	NM_001001670.2	1270	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS47986.1	3810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGGAGCC	NONE	.	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	.	.	ENSP00000341988	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000344803	Transcript	.	.	ENSG00000214929	37283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	.	deleterious(0)	.	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,missense_variant,p.Gln1270His,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	3857	100	61	SUCCESS
ARHGEF6	9459	.	GRCh37	X	135757211	135757211	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	91	115	0	ENST00000250617.6:c.1990G>C	p.Glu664Gln	p.E664Q	ENST00000250617	NM_004840.2	664	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS14660.1	1990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCGATCA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92	.	.	ENSP00000250617	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000250617	Transcript	.	.	ENSG00000129675	685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.286)	.	deleterious(0.02)	.	ARHG6_HUMAN	ARHGEF6	HGNC	.	.	UPI0000001C8E	SNV	ARHGEF6,missense_variant,p.Glu510Gln,ENST00000370620,;ARHGEF6,missense_variant,p.Glu664Gln,ENST00000250617,;ARHGEF6,missense_variant,p.Glu510Gln,ENST00000370622,;ARHGEF6,missense_variant,p.Glu537Gln,ENST00000535227,;	3196	116	107	SUCCESS
MAGEB18	286514	.	GRCh37	X	26157602	26157602	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	72	75	1	ENST00000325250.1:c.500T>A	p.Val167Glu	p.V167E	ENST00000325250	NM_173699.3	167	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS14216.1	500	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTGGATC	BUFFER|p.E166D|c.498A>C|3	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF23,Pfam_domain:PF01454	.	.	ENSP00000314543	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000325250	Transcript	.	.	ENSG00000176774	28515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	MAGBI_HUMAN	MAGEB18	HGNC	.	.	UPI00001415E3	SNV	MAGEB18,missense_variant,p.Val167Glu,ENST00000325250,;	687	76	81	SUCCESS
AMER1	139285	.	GRCh37	X	63410708	63410708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	53	52	0	ENST00000330258.3:c.2459G>T	p.Gly820Val	p.G820V	ENST00000330258	NM_152424.3	820	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14377.2	2459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCCTTCC	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Gly820Val,ENST00000330258,;AMER1,intron_variant,,ENST00000374869,;AMER1,intron_variant,,ENST00000403336,;	2732	52	57	SUCCESS
DHX32	55760	.	GRCh37	10	127541724	127541724	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	65	0	ENST00000284690.3:c.1093-513A>G		p.*365*	ENST00000284690	NM_018180.2	294		0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7649.1	881	MUTECT|MUSE	.	CCTGGTTTCTC	NONE	.	.	PIRSF_domain:PIRSF028983	.	.	ENSP00000357748	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000368759	Transcript	.	.	ENSG00000107949	978	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.25)	.	BCCIP_HUMAN	BCCIP	HGNC	.	.	UPI0000073C44	SNV	BCCIP,missense_variant,p.Val294Ala,ENST00000368759,;DHX32,intron_variant,,ENST00000284688,;DHX32,intron_variant,,ENST00000368721,;DHX32,intron_variant,,ENST00000284690,;	893	65	63	SUCCESS
COMMD3	23412	.	GRCh37	10	22606855	22606855	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	60	258	0	ENST00000376836.3:c.182A>G	p.His61Arg	p.H61R	ENST00000376836	NM_012071.3	61	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS7137.1	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATTGTC	NONE	.	.	hmmpanther:PTHR31159:SF1,hmmpanther:PTHR31159,Pfam_domain:PF07258	.	.	ENSP00000366032	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376836	Transcript	.	.	ENSG00000148444	23332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.12)	.	COMD3_HUMAN	COMMD3	HGNC	.	.	UPI000006F319	SNV	COMMD3,missense_variant,p.His62Arg,ENST00000456711,;COMMD3,missense_variant,p.His61Arg,ENST00000376836,;COMMD3-BMI1,missense_variant,p.His61Arg,ENST00000602390,;COMMD3,missense_variant,p.His61Arg,ENST00000444869,;COMMD3-BMI1,missense_variant,p.His61Arg,ENST00000475460,;COMMD3-BMI1,missense_variant,p.His57Arg,ENST00000489125,;COMMD3,intron_variant,,ENST00000448361,;BMI1,upstream_gene_variant,,ENST00000442508,;COMMD3,upstream_gene_variant,,ENST00000471350,;BMI1,upstream_gene_variant,,ENST00000376663,;COMMD3,non_coding_transcript_exon_variant,,ENST00000483684,;COMMD3-BMI1,non_coding_transcript_exon_variant,,ENST00000463409,;COMMD3,non_coding_transcript_exon_variant,,ENST00000472673,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468469,;COMMD3,3_prime_UTR_variant,,ENST00000472610,;COMMD3,non_coding_transcript_exon_variant,,ENST00000470045,;COMMD3,non_coding_transcript_exon_variant,,ENST00000463688,;COMMD3,non_coding_transcript_exon_variant,,ENST00000496071,;COMMD3,non_coding_transcript_exon_variant,,ENST00000479958,;COMMD3,non_coding_transcript_exon_variant,,ENST00000602574,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468179,;COMMD3-BMI1,intron_variant,,ENST00000417470,;BMI1,upstream_gene_variant,,ENST00000602523,;BMI1,upstream_gene_variant,,ENST00000456675,;COMMD3-BMI1,upstream_gene_variant,,ENST00000602395,;	626	258	170	SUCCESS
OR51S1	119692	.	GRCh37	11	4869815	4869815	+	synonymous_variant	Silent	SNP	A	A	G	rs763853085	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	76	0	ENST00000322101.2:c.624T>C	p.Phe208=	p.F208=	ENST00000322101	NM_001004758.1	208	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS31362.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAAATAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000322754	.	1/1	.	.	.	.	.	.	.	.	rs763853085	1/1	PASS	ENST00000322101	Transcript	.	.	ENSG00000176922	15204	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51S1_HUMAN	OR51S1	HGNC	.	.	UPI0000041C33	SNV	OR51S1,synonymous_variant,p.%3D,ENST00000322101,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	700	76	42	SUCCESS
NOS1	4842	.	GRCh37	12	117658021	117658021	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	55	0	ENST00000317775.6:c.4029C>A	p.Ala1343=	p.A1343=	ENST00000317775	NM_000620.4	1343	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55890.1	4131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGGCTCG	NONE	.	.	Superfamily_domains:SSF52343,PIRSF_domain:PIRSF000333,Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,synonymous_variant,p.%3D,ENST00000317775,;NOS1,synonymous_variant,p.%3D,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	4136	55	35	SUCCESS
NOS1	4842	.	GRCh37	12	117658022	117658022	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747706095	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	56	0	ENST00000317775.6:c.4028C>A	p.Ala1343Asp	p.A1343D	ENST00000317775	NM_000620.4	1343	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS55890.1	4130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGCTCGG	NONE	.	.	Superfamily_domains:SSF52343,PIRSF_domain:PIRSF000333,Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	27/29	.	.	.	.	.	.	.	.	rs747706095,COSM3670117	27/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.958)	.	tolerated(0.17)	0,1	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Ala1343Asp,ENST00000317775,;NOS1,missense_variant,p.Ala1377Asp,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	4135	56	34	SUCCESS
PRKAG1	5571	.	GRCh37	12	49412616	49412616	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs376441054	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	57	0	ENST00000548065.1:c.-93G>A		p.*31*	ENST00000548065				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55825.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCACGTC	NONE	.	54	.	.	.	ENSP00000323867	.	.	.	.	.	.	.	.	.	.	rs376441054	.	PASS	ENST00000316299	Transcript	.	.	ENSG00000181929	9385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAKG1_HUMAN	PRKAG1	HGNC	F8W9D1_HUMAN,F8VYZ8_HUMAN,F8VPF5_HUMAN	.	UPI000007202F	SNV	PRKAG1,5_prime_UTR_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000548950,;KMT2D,downstream_gene_variant,,ENST00000301067,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000552212,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000316299,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000395170,;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000547125,;KMT2D,downstream_gene_variant,,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000551696,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547866,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;PRKAG1,upstream_gene_variant,,ENST00000552657,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000546531,;	.	57	37	SUCCESS
FAM186A	121006	.	GRCh37	12	50749671	50749671	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	37	128	1	ENST00000327337.5:c.944T>C	p.Met315Thr	p.M315T	ENST00000327337	NM_001145475.1	315	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS44878.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCATTTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Gene3D:1.20.5.340	.	.	ENSP00000329995	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000327337	Transcript	.	.	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.351)	.	tolerated(0.06)	.	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Met315Thr,ENST00000327337,;FAM186A,missense_variant,p.Met315Thr,ENST00000543111,;	944	129	87	SUCCESS
HOXC9	3225	.	GRCh37	12	54394044	54394044	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	116	0	ENST00000303450.4:c.72A>G	p.Leu24=	p.L24=	ENST00000303450	NM_006897.1	24	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8869.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTAGCGTC	NONE	.	.	hmmpanther:PTHR24326:SF145,hmmpanther:PTHR24326,Pfam_domain:PF04617,PIRSF_domain:PIRSF037109	.	.	ENSP00000302836	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000303450	Transcript	.	.	ENSG00000180806	5130	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC9_HUMAN	HOXC9	HGNC	.	.	UPI000012CF79	SNV	HOXC9,synonymous_variant,p.%3D,ENST00000303450,;HOXC9,synonymous_variant,p.%3D,ENST00000508190,;HOXC6,intron_variant,,ENST00000509328,;HOXC6,intron_variant,,ENST00000504315,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC-AS2,upstream_gene_variant,,ENST00000513533,;HOXC-AS2,upstream_gene_variant,,ENST00000604081,;HOXC-AS1,upstream_gene_variant,,ENST00000505700,;HOXC-AS1,upstream_gene_variant,,ENST00000512427,;HOXC9,intron_variant,,ENST00000504557,;	142	116	94	SUCCESS
NTF3	4908	.	GRCh37	12	5541339	5541339	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	15	0	ENST00000423158.3:c.-152G>A		p.*51*	ENST00000423158	NM_001102654.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44806.1	.	RADIA|MUTECT|MUSE	.	CCGGCGCAACT	NONE	.	.	.	.	.	ENSP00000397297	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000423158	Transcript	.	.	ENSG00000185652	8023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NTF3_HUMAN	NTF3	HGNC	.	.	UPI0000D4F126	SNV	NTF3,5_prime_UTR_variant,,ENST00000423158,;NTF3,non_coding_transcript_exon_variant,,ENST00000535299,;NTF3,upstream_gene_variant,,ENST00000543548,;	61	15	12	SUCCESS
IKBIP	121457	.	GRCh37	12	99020519	99020519	+	intron_variant	Intron	DEL	T	T	-	rs375489943	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	89	0	ENST00000342502.2:c.297+7555del		p.*99*	ENST00000342502	NM_201612.2	108		0	C:0	.	.	.	.	-	Q/X	protein_coding	YES	CCDS9068.1	323	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTCCTGCAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21734	.	C:0.0001	ENSP00000299157	.	3/3	.	.	.	.	.	.	.	.	rs375489943	3/3	PASS	ENST00000299157	Transcript	.	.	ENSG00000166130	26430	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IKIP_HUMAN	IKBIP	HGNC	.	.	UPI0000070C12	deletion	IKBIP,frameshift_variant,p.Gln108ArgfsTer9,ENST00000299157,;IKBIP,intron_variant,,ENST00000342502,;IKBIP,intron_variant,,ENST00000393042,;IKBIP,intron_variant,,ENST00000420861,;	697	89	107	SUCCESS
WASF3	10810	.	GRCh37	13	27255234	27255234	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756288563	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	188	0	ENST00000335327.5:c.760C>T	p.Pro254Ser	p.P254S	ENST00000335327	NM_006646.5	254	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9318.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTCCCAAC	NONE	byFrequency	.	hmmpanther:PTHR12902:SF7,hmmpanther:PTHR12902	.	.	ENSP00000335055	.	8/10	.	.	.	.	.	.	.	.	rs756288563	8/10	PASS	ENST00000335327	Transcript	.	.	ENSG00000132970	12734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.574)	.	tolerated(0.11)	.	WASF3_HUMAN	WASF3	HGNC	Q5T8P4_HUMAN,B4DGR1_HUMAN	.	UPI000013CEA7	SNV	WASF3,missense_variant,p.Pro251Ser,ENST00000361042,;WASF3,missense_variant,p.Pro254Ser,ENST00000335327,;WASF3,downstream_gene_variant,,ENST00000496788,;	938	188	93	SUCCESS
SYNE2	23224	.	GRCh37	14	64497758	64497758	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	77	359	1	ENST00000344113.4:c.6904C>T	p.Gln2302Ter	p.Q2302*	ENST00000344113	NM_015180.4	2302	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS9761.2	6904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTACAAGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	45/116	.	.	.	.	.	.	.	.	.	45/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,stop_gained,p.Gln2302Ter,ENST00000554584,;SYNE2,stop_gained,p.Gln2302Ter,ENST00000358025,;SYNE2,stop_gained,p.Gln2302Ter,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	7134	360	233	SUCCESS
ZNF770	54989	.	GRCh37	15	35274530	35274530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	118	0	ENST00000356321.4:c.1106G>A	p.Cys369Tyr	p.C369Y	ENST00000356321	NM_014106.3	369	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS10042.1	1106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACAATTT	NONE	.	.	hmmpanther:PTHR10032:SF208,hmmpanther:PTHR10032	.	.	ENSP00000348673	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356321	Transcript	.	.	ENSG00000198146	26061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ZN770_HUMAN	ZNF770	HGNC	H0YM59_HUMAN	.	UPI00001D776B	SNV	ZNF770,missense_variant,p.Cys369Tyr,ENST00000356321,;ZNF770,downstream_gene_variant,,ENST00000559564,;AC114546.1,downstream_gene_variant,,ENST00000391457,;	1451	118	71	SUCCESS
DUOXA1	90527	.	GRCh37	15	45413291	45413291	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	110	0	ENST00000560572.1:c.334C>G	p.Leu112Val	p.L112V	ENST00000560572	NM_001276266.1	112	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS10119.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAGTGTGA	NONE	.	.	hmmpanther:PTHR31158,hmmpanther:PTHR31158:SF3,Pfam_domain:PF10204	.	.	ENSP00000267803	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000267803	Transcript	.	.	ENSG00000140254	26507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	deleterious(0.01)	.	DOXA1_HUMAN	DUOXA1	HGNC	H0YMZ8_HUMAN,H0YLQ4_HUMAN,A8K9Q6_HUMAN	.	UPI000006D4D4	SNV	DUOXA1,missense_variant,p.Leu112Val,ENST00000267803,;DUOXA1,missense_variant,p.Leu112Val,ENST00000559014,;DUOXA1,missense_variant,p.Leu112Val,ENST00000560572,;DUOXA1,missense_variant,p.Leu112Val,ENST00000559988,;DUOXA1,intron_variant,,ENST00000558326,;DUOXA1,intron_variant,,ENST00000558422,;DUOXA1,intron_variant,,ENST00000558996,;DUOXA1,intron_variant,,ENST00000559226,;DUOXA1,intron_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558851,;DUOXA1,downstream_gene_variant,,ENST00000558377,;DUOXA2,downstream_gene_variant,,ENST00000323030,;DUOXA1,downstream_gene_variant,,ENST00000559644,;DUOXA1,missense_variant,p.Leu92Val,ENST00000559013,;DUOXA2,downstream_gene_variant,,ENST00000350243,;DUOXA2,downstream_gene_variant,,ENST00000491993,;	734	110	102	SUCCESS
DIS3L	115752	.	GRCh37	15	66604085	66604085	+	synonymous_variant	Silent	SNP	T	T	A	rs1005946073	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	57	0	ENST00000319212.4:c.582T>A	p.Pro194=	p.P194=	ENST00000319212	NM_001143688.1	194	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45286.1	582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTGATTT	NONE	.	.	hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30	.	.	ENSP00000321711	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000319212	Transcript	.	.	ENSG00000166938	28698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DI3L1_HUMAN	DIS3L	HGNC	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN	.	UPI000162779D	SNV	DIS3L,synonymous_variant,p.%3D,ENST00000319194,;DIS3L,synonymous_variant,p.%3D,ENST00000319212,;DIS3L,synonymous_variant,p.%3D,ENST00000525109,;DIS3L,synonymous_variant,p.%3D,ENST00000441424,;DIS3L,downstream_gene_variant,,ENST00000530615,;DIS3L,downstream_gene_variant,,ENST00000525134,;DIS3L,downstream_gene_variant,,ENST00000532580,;RP11-352G18.2,downstream_gene_variant,,ENST00000565993,;DIS3L,3_prime_UTR_variant,,ENST00000530537,;DIS3L,3_prime_UTR_variant,,ENST00000524795,;DIS3L,non_coding_transcript_exon_variant,,ENST00000562314,;DIS3L,non_coding_transcript_exon_variant,,ENST00000565281,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564909,;	632	57	28	SUCCESS
C16orf96	342346	.	GRCh37	16	4625287	4625287	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	50	0	ENST00000444310.4:c.806A>G	p.Glu269Gly	p.E269G	ENST00000444310	NM_001145011.1	269	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS53986.1	806	RADIA|MUSE	.	CTCCGAGCCCG	NONE	.	.	.	.	.	ENSP00000415027	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.922)	.	deleterious(0.03)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Glu269Gly,ENST00000444310,;	806	50	52	SUCCESS
PDF	64146	.	GRCh37	16	69363005	69363005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	68	0	ENST00000288022.1:c.652C>A	p.His218Asn	p.H218N	ENST00000288022	NM_022341.1	218	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS10875.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGGTCCA	NONE	.	.	HAMAP:MF_00163,hmmpanther:PTHR10458,hmmpanther:PTHR10458:SF6,Pfam_domain:PF01327,Gene3D:3.90.45.10,Superfamily_domains:SSF56420,Prints_domain:PR01576	.	.	ENSP00000288022	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000288022	Transcript	.	.	ENSG00000258429	30012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEFM_HUMAN	PDF	HGNC	.	.	UPI000003C676	SNV	PDF,missense_variant,p.His218Asn,ENST00000288022,;RP11-343C2.12,synonymous_variant,p.%3D,ENST00000562949,;COG8,3_prime_UTR_variant,,ENST00000306875,;COG8,intron_variant,,ENST00000562595,;VPS4A,downstream_gene_variant,,ENST00000254950,;COG8,downstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000564419,;VPS4A,downstream_gene_variant,,ENST00000566354,;	677	68	61	SUCCESS
FBXL16	146330	.	GRCh37	16	745857	745857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	176	0	ENST00000324361.5:c.700G>T	p.Ala234Ser	p.A234S	ENST00000324361		234	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10421.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCCTCGG	NONE	.	.	hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF233,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000380746	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000397621	Transcript	.	.	ENSG00000127585	14150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	tolerated(0.16)	.	FXL16_HUMAN	FBXL16	HGNC	Q8N4J3_HUMAN,B3KR59_HUMAN	.	UPI0000141371	SNV	FBXL16,missense_variant,p.Ala234Ser,ENST00000324361,;FBXL16,missense_variant,p.Ala234Ser,ENST00000397621,;FBXL16,missense_variant,p.Ala22Ser,ENST00000562563,;LA16c-313D11.12,downstream_gene_variant,,ENST00000566927,;FBXL16,upstream_gene_variant,,ENST00000562585,;FBXL16,upstream_gene_variant,,ENST00000562648,;LA16c-313D11.12,downstream_gene_variant,,ENST00000575305,;	1032	176	97	SUCCESS
WDR81	124997	.	GRCh37	17	1634133	1634133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	111	0	ENST00000409644.1:c.3860T>C	p.Leu1287Pro	p.L1287P	ENST00000409644	NM_001163809.1	1287	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS54062.1	3860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCTGGGCG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314	.	.	ENSP00000386609	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000409644	Transcript	.	.	ENSG00000167716	26600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	WDR81_HUMAN	WDR81	HGNC	E9PDG3_HUMAN,C9JD20_HUMAN	.	UPI0001881A85	SNV	WDR81,missense_variant,p.Leu60Pro,ENST00000419248,;WDR81,missense_variant,p.Leu168Pro,ENST00000575206,;WDR81,missense_variant,p.Leu84Pro,ENST00000455636,;WDR81,missense_variant,p.Leu236Pro,ENST00000309182,;WDR81,missense_variant,p.Leu84Pro,ENST00000437219,;WDR81,missense_variant,p.Leu1287Pro,ENST00000409644,;WDR81,5_prime_UTR_variant,,ENST00000446363,;WDR81,5_prime_UTR_variant,,ENST00000545662,;WDR81,intron_variant,,ENST00000468539,;WDR81,intron_variant,,ENST00000418841,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,missense_variant,p.Leu38Pro,ENST00000474958,;WDR81,non_coding_transcript_exon_variant,,ENST00000479966,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000495411,;WDR81,downstream_gene_variant,,ENST00000492901,;	3860	111	71	SUCCESS
BRCA1	672	.	GRCh37	17	41203109	41203109	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs730881497	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	87	0	ENST00000357654.3:c.5303G>A	p.Cys1768Tyr	p.C1768Y	ENST00000357654	NM_007294.3	1768	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS11456.2	5366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CATAGCAACAG	NONE	.	.	PROSITE_profiles:PS50172,hmmpanther:PTHR13763:SF0,hmmpanther:PTHR13763,Gene3D:3.40.50.10190,Pfam_domain:PF00533,PIRSF_domain:PIRSF001734,SMART_domains:SM00292,Superfamily_domains:SSF52113	.	.	ENSP00000418960	.	21/24	.	.	.	.	.	.	.	.	rs730881497	21/24	PASS	ENST00000471181	Transcript	.	.	ENSG00000012048	1100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	.	.	BRCA1	HGNC	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFC7_HUMAN,E7EWN5_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN	.	UPI0000E0360B	SNV	BRCA1,missense_variant,p.Cys626Tyr,ENST00000352993,;BRCA1,missense_variant,p.Cys1721Tyr,ENST00000493795,;BRCA1,missense_variant,p.Cys664Tyr,ENST00000468300,;BRCA1,missense_variant,p.Cys585Tyr,ENST00000351666,;BRCA1,missense_variant,p.Cys259Tyr,ENST00000591534,;BRCA1,missense_variant,p.Cys664Tyr,ENST00000491747,;BRCA1,missense_variant,p.Cys1789Tyr,ENST00000471181,;BRCA1,missense_variant,p.Cys78Tyr,ENST00000586385,;BRCA1,missense_variant,p.Cys1529Tyr,ENST00000346315,;BRCA1,missense_variant,p.Cys1768Tyr,ENST00000357654,;BRCA1,missense_variant,p.Cys1472Tyr,ENST00000309486,;BRCA1,missense_variant,p.Cys1503Tyr,ENST00000354071,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;	5598	87	55	SUCCESS
ATXN7L3	56970	.	GRCh37	17	42273177	42273177	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	61	0	ENST00000389384.4:c.543T>A	p.Asp181Glu	p.D181E	ENST00000389384	NM_001098833.1	181	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS45697.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGATCCGA	NONE	.	.	hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF6	.	.	ENSP00000397259	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000454077	Transcript	.	.	ENSG00000087152	25416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.73)	.	AT7L3_HUMAN	ATXN7L3	HGNC	K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN	.	UPI00001613AC	SNV	ATXN7L3,missense_variant,p.Asp14Glu,ENST00000591295,;ATXN7L3,missense_variant,p.Asp181Glu,ENST00000389384,;ATXN7L3,missense_variant,p.Asp181Glu,ENST00000587097,;ATXN7L3,missense_variant,p.Asp188Glu,ENST00000454077,;ATXN7L3,5_prime_UTR_variant,,ENST00000590537,;ATXN7L3,downstream_gene_variant,,ENST00000589805,;TMUB2,downstream_gene_variant,,ENST00000319511,;TMUB2,downstream_gene_variant,,ENST00000587630,;TMUB2,downstream_gene_variant,,ENST00000357984,;TMUB2,downstream_gene_variant,,ENST00000587172,;TMUB2,downstream_gene_variant,,ENST00000446571,;TMUB2,downstream_gene_variant,,ENST00000589785,;TMUB2,downstream_gene_variant,,ENST00000590235,;ATXN7L3,downstream_gene_variant,,ENST00000590169,;TMUB2,downstream_gene_variant,,ENST00000592825,;TMUB2,downstream_gene_variant,,ENST00000589184,;TMUB2,downstream_gene_variant,,ENST00000587989,;TMUB2,downstream_gene_variant,,ENST00000538716,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,intron_variant,,ENST00000593073,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000587022,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000589607,;ATXN7L3,upstream_gene_variant,,ENST00000591807,;ATXN7L3,upstream_gene_variant,,ENST00000586688,;TMUB2,downstream_gene_variant,,ENST00000587326,;	564	61	37	SUCCESS
DHX33	56919	.	GRCh37	17	5365670	5365670	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	52	179	0	ENST00000225296.3:c.647G>T	p.Arg216Met	p.R216M	ENST00000225296	NM_001199699.1	216	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS11072.1	647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTCTTC	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF96,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000225296	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000225296	Transcript	.	.	ENSG00000005100	16718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	tolerated(0.09)	.	DHX33_HUMAN	DHX33	HGNC	.	.	UPI000013C861	SNV	DHX33,missense_variant,p.Arg126Met,ENST00000572490,;DHX33,missense_variant,p.Arg216Met,ENST00000225296,;DHX33,intron_variant,,ENST00000433302,;DHX33,3_prime_UTR_variant,,ENST00000574023,;DHX33,upstream_gene_variant,,ENST00000575153,;	848	179	168	SUCCESS
EPX	8288	.	GRCh37	17	56276412	56276412	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1439178803	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	24	0	ENST00000225371.5:c.1132T>C	p.Ser378Pro	p.S378P	ENST00000225371	NM_000502.4	378	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS11602.1	1132	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGATCAACG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000225371	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000225371	Transcript	.	.	ENSG00000121053	3423	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.854)	.	deleterious(0.03)	.	PERE_HUMAN	EPX	HGNC	.	.	UPI0000131629	SNV	EPX,missense_variant,p.Ser378Pro,ENST00000225371,;	1242	24	29	SUCCESS
MRC2	9902	.	GRCh37	17	60767531	60767531	+	synonymous_variant	Silent	SNP	C	C	A	rs763671736	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	68	327	1	ENST00000303375.5:c.3757C>A	p.Arg1253=	p.R1253=	ENST00000303375	NM_006039.4	1253	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11634.1	3757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCGAAGA	NONE	.	.	hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10	.	.	ENSP00000307513	.	26/30	.	.	.	.	.	.	.	.	rs763671736	26/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,synonymous_variant,p.%3D,ENST00000446119,;MRC2,synonymous_variant,p.%3D,ENST00000303375,;MRC2,downstream_gene_variant,,ENST00000580916,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;	4159	328	223	SUCCESS
ABCA10	10349	.	GRCh37	17	67210857	67210857	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs200246933	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	115	0	ENST00000269081.4:c.994C>T	p.Arg332Ter	p.R332*	ENST00000269081	NM_080282.3	332	Cga/Tga	0	.	C:0	.	C:0	.	A	R/*	protein_coding	YES	CCDS11684.1	994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCGCTCAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229	C:0	.	ENSP00000269081	C:0.001	10/40	.	.	.	.	.	.	.	.	rs200246933,COSM4069067	10/40	PASS	ENST00000269081	Transcript	.	C:0.0002	ENSG00000154263	30	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	C:0	.	0,1	ABCAA_HUMAN	ABCA10	HGNC	K7ERP5_HUMAN	.	UPI000013D7F6	SNV	ABCA10,stop_gained,p.Arg332Ter,ENST00000416101,;ABCA10,stop_gained,p.Arg332Ter,ENST00000269081,;ABCA10,stop_gained,p.Arg332Ter,ENST00000432313,;ABCA10,downstream_gene_variant,,ENST00000423818,;ABCA10,stop_gained,p.Arg332Ter,ENST00000522406,;ABCA10,stop_gained,p.Arg332Ter,ENST00000523419,;ABCA10,stop_gained,p.Arg332Ter,ENST00000518929,;ABCA10,3_prime_UTR_variant,,ENST00000523512,;ABCA10,downstream_gene_variant,,ENST00000524273,;	1904	115	86	SUCCESS
SLC26A11	284129	.	GRCh37	17	78222437	78222437	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	52	219	0	ENST00000361193.3:c.1486G>A	p.Ala496Thr	p.A496T	ENST00000361193	NM_001166347.1	496	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11771.2	1486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGCTCTG	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF55,hmmpanther:PTHR11814,Gene3D:3.30.750.24,Pfam_domain:PF01740,Superfamily_domains:SSF52091	.	.	ENSP00000355384	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000361193	Transcript	.	.	ENSG00000181045	14471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.39)	.	S2611_HUMAN	SLC26A11	HGNC	Q96BU7_HUMAN,I3L3K8_HUMAN,I3L2J9_HUMAN,I3L1H1_HUMAN,I3L124_HUMAN	.	UPI000003E7B7	SNV	SLC26A11,missense_variant,p.Ala37Thr,ENST00000575019,;SLC26A11,missense_variant,p.Ala496Thr,ENST00000361193,;SLC26A11,missense_variant,p.Ala496Thr,ENST00000572725,;SLC26A11,missense_variant,p.Ala496Thr,ENST00000546047,;SLC26A11,missense_variant,p.Ala496Thr,ENST00000411502,;SLC26A11,downstream_gene_variant,,ENST00000571215,;SLC26A11,downstream_gene_variant,,ENST00000571888,;	1766	219	166	SUCCESS
NOL4	8715	.	GRCh37	18	31685081	31685081	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1267178451	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	50	163	0	ENST00000261592.5:c.458G>A	p.Arg153Gln	p.R153Q	ENST00000261592	NM_001198546.1	153	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11907.2	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCGTGTC	NONE	.	.	hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8	.	.	ENSP00000261592	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000261592	Transcript	.	.	ENSG00000101746	7870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NOL4_HUMAN	NOL4	HGNC	.	.	UPI000059D504	SNV	NOL4,missense_variant,p.Arg153Gln,ENST00000261592,;NOL4,missense_variant,p.Arg153Gln,ENST00000589544,;NOL4,missense_variant,p.Arg39Gln,ENST00000269185,;NOL4,missense_variant,p.Arg79Gln,ENST00000538587,;NOL4,missense_variant,p.Arg137Gln,ENST00000590712,;NOL4,5_prime_UTR_variant,,ENST00000535475,;NOL4,non_coding_transcript_exon_variant,,ENST00000587953,;NOL4,non_coding_transcript_exon_variant,,ENST00000588280,;NOL4,intron_variant,,ENST00000587971,;NOL4,3_prime_UTR_variant,,ENST00000586314,;NOL4,3_prime_UTR_variant,,ENST00000591917,;NOL4,downstream_gene_variant,,ENST00000586309,;	756	163	129	SUCCESS
MOCOS	55034	.	GRCh37	18	33831219	33831219	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	46	0	ENST00000261326.5:c.2137A>G	p.Arg713Gly	p.R713G	ENST00000261326	NM_017947.2	713	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS11919.1	2137	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAAGGAAT	NONE	.	.	Superfamily_domains:0052540,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050,PROSITE_profiles:PS51340	.	.	ENSP00000261326	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.177)	.	deleterious(0.03)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Arg713Gly,ENST00000261326,;	2158	46	41	SUCCESS
QTRT1	81890	.	GRCh37	19	10823446	10823446	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	50	74	0	ENST00000250237.5:c.874G>T	p.Ala292Ser	p.A292S	ENST00000250237	NM_031209.2	292	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS12248.1	874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCCCTG	NONE	.	.	HAMAP:MF_00168,hmmpanther:PTHR11962,hmmpanther:PTHR11962:SF6,TIGRFAM_domain:TIGR00449,Pfam_domain:PF01702,TIGRFAM_domain:TIGR00430,Gene3D:3.20.20.105,Superfamily_domains:SSF51713	.	.	ENSP00000250237	.	8/10	.	.	.	.	.	.	.	.	COSM1524033	8/10	PASS	ENST00000250237	Transcript	.	.	ENSG00000213339	23797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	TGT_HUMAN	QTRT1	HGNC	.	.	UPI000003B010	SNV	QTRT1,missense_variant,p.Ala27Ser,ENST00000592376,;QTRT1,missense_variant,p.Ala292Ser,ENST00000250237,;QTRT1,downstream_gene_variant,,ENST00000591643,;QTRT1,downstream_gene_variant,,ENST00000585885,;QTRT1,3_prime_UTR_variant,,ENST00000421333,;QTRT1,non_coding_transcript_exon_variant,,ENST00000587500,;QTRT1,non_coding_transcript_exon_variant,,ENST00000587861,;QTRT1,non_coding_transcript_exon_variant,,ENST00000589488,;QTRT1,downstream_gene_variant,,ENST00000590705,;QTRT1,upstream_gene_variant,,ENST00000592531,;QTRT1,downstream_gene_variant,,ENST00000587599,;	884	74	95	SUCCESS
GMIP	51291	.	GRCh37	19	19745726	19745726	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs948233674	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	62	0	ENST00000203556.4:c.1762G>A	p.Val588Ile	p.V588I	ENST00000203556	NM_016573.2	588	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS12408.1	1762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACCCGGT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000203556	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.58)	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,missense_variant,p.Val562Ile,ENST00000587238,;GMIP,missense_variant,p.Val588Ile,ENST00000203556,;GMIP,missense_variant,p.Val559Ile,ENST00000445806,;GMIP,downstream_gene_variant,,ENST00000593186,;GMIP,non_coding_transcript_exon_variant,,ENST00000586269,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000591047,;	1900	62	76	SUCCESS
ZNF77	58492	.	GRCh37	19	2934207	2934207	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	75	178	0	ENST00000314531.4:c.918C>T	p.Ser306=	p.S306=	ENST00000314531	NM_021217.2	306	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12099.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGCTGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF51,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000319053	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314531	Transcript	.	.	ENSG00000175691	13150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF77_HUMAN	ZNF77	HGNC	.	.	UPI0000160564	SNV	ZNF77,synonymous_variant,p.%3D,ENST00000314531,;	1011	178	145	SUCCESS
ZNF461	92283	.	GRCh37	19	37130367	37130367	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	55	0	ENST00000588268.1:c.880A>G	p.Ile294Val	p.I294V	ENST00000588268	NM_153257.2	294	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54257.1	880	MUTECT|MUSE	.	GTGAATTCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF277,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000467931	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588268	Transcript	.	.	ENSG00000197808	21629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.16)	.	ZN461_HUMAN	ZNF461	HGNC	K7EJM1_HUMAN,K7EIW1_HUMAN	.	UPI00002021CA	SNV	ZNF461,missense_variant,p.Ile271Val,ENST00000360357,;ZNF461,missense_variant,p.Ile294Val,ENST00000588268,;ZNF461,downstream_gene_variant,,ENST00000591370,;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000590361,;ZNF461,downstream_gene_variant,,ENST00000588844,;	1108	55	74	SUCCESS
THEG	51298	.	GRCh37	19	375911	375911	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1190840382	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	37	0	ENST00000342640.4:c.60G>T	p.Arg20Ser	p.R20S	ENST00000342640	NM_016585.4	20	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12025.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGACCTGCC	NONE	.	.	hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13	.	.	ENSP00000340088	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000342640	Transcript	.	.	ENSG00000105549	13706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.78)	.	THEG_HUMAN	THEG	HGNC	.	.	UPI000006E5C6	SNV	THEG,missense_variant,p.Arg20Ser,ENST00000346878,;THEG,missense_variant,p.Arg20Ser,ENST00000342640,;THEG,upstream_gene_variant,,ENST00000530711,;THEG,upstream_gene_variant,,ENST00000528213,;	103	37	44	SUCCESS
ZNF577	84765	.	GRCh37	19	52375810	52375810	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	52	0	ENST00000301399.5:c.1433A>C	p.Tyr478Ser	p.Y478S	ENST00000301399	NM_032679.2	478	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS12842.2	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGATACAAG	NONE	.	.	hmmpanther:PTHR24377:SF208,hmmpanther:PTHR24377	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0)	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,missense_variant,p.Tyr419Ser,ENST00000451628,;ZNF577,missense_variant,p.Tyr478Ser,ENST00000458390,;ZNF577,missense_variant,p.Tyr419Ser,ENST00000420592,;ZNF577,missense_variant,p.Tyr478Ser,ENST00000301399,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	1799	52	63	SUCCESS
C1orf43	25912	.	GRCh37	1	154184832	154184832	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	62	95	0	ENST00000368521.5:c.530T>C	p.Leu177Pro	p.L177P	ENST00000368521	NM_001098616.1	177	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41404.1	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTAGGTAC	NONE	.	.	hmmpanther:PTHR21425,hmmpanther:PTHR21425:SF2,Gene3D:1.10.1040.10,Pfam_domain:PF07406	.	.	ENSP00000357507	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000368521	Transcript	.	.	ENSG00000143612	29876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	tolerated(0.11)	.	CA043_HUMAN	C1orf43	HGNC	.	.	UPI0000070171	SNV	C1orf43,missense_variant,p.Leu125Pro,ENST00000362076,;C1orf43,missense_variant,p.Leu143Pro,ENST00000350592,;C1orf43,missense_variant,p.Leu159Pro,ENST00000368519,;C1orf43,missense_variant,p.Leu177Pro,ENST00000368521,;C1orf43,missense_variant,p.Leu177Pro,ENST00000368518,;C1orf43,missense_variant,p.Leu143Pro,ENST00000368516,;C1orf43,non_coding_transcript_exon_variant,,ENST00000493814,;C1orf43,upstream_gene_variant,,ENST00000483282,;C1orf43,downstream_gene_variant,,ENST00000470180,;	729	95	100	SUCCESS
PMVK	10654	.	GRCh37	1	154904854	154904854	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1487418854	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	53	166	0	ENST00000368467.3:c.133G>A	p.Gly45Ser	p.G45S	ENST00000368467	NM_006556.3	45	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1073.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCAGAGA	NONE	.	.	hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,TIGRFAM_domain:TIGR01223,Pfam_domain:PF04275,PIRSF_domain:PIRSF036639,Superfamily_domains:SSF52540	.	.	ENSP00000357452	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000368467	Transcript	.	.	ENSG00000163344	9141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	deleterious(0.05)	.	PMVK_HUMAN	PMVK	HGNC	Q6FGV9_HUMAN	.	UPI000013E263	SNV	PMVK,missense_variant,p.Gly45Ser,ENST00000368467,;RP11-307C12.13,upstream_gene_variant,,ENST00000604546,;	439	166	208	SUCCESS
MSTO2P	100129405	.	GRCh37	1	155717790	155717790	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs530614846	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	25	150	0	ENST00000538914.1:n.765G>A		p.*255*	ENST00000538914				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44242.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTATCGTCTAT	NONE	byFrequency|byCluster	1718	.	.	.	ENSP00000396117	.	.	.	.	.	.	.	.	.	.	rs530614846	.	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	MSTO1,3_prime_UTR_variant,,ENST00000452804,;GON4L,downstream_gene_variant,,ENST00000437809,;MSTO1,downstream_gene_variant,,ENST00000538143,;GON4L,downstream_gene_variant,,ENST00000368331,;GON4L,downstream_gene_variant,,ENST00000271883,;GON4L,downstream_gene_variant,,ENST00000473267,;MSTO2P,non_coding_transcript_exon_variant,,ENST00000538914,;MSTO2P,non_coding_transcript_exon_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	.	150	159	SUCCESS
SPTA1	6708	.	GRCh37	1	158651436	158651436	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	59	175	0	ENST00000368147.4:c.412del	p.His138ThrfsTer7	p.H138Tfs*7	ENST00000368147	NM_003126.2	138	Cac/ac	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS41423.1	412	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGGTGGCGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	4/52	.	.	.	.	.	.	.	.	.	4/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	deletion	SPTA1,frameshift_variant,p.His138ThrfsTer7,ENST00000368147,;SPTA1,intron_variant,,ENST00000467387,;	593	175	245	SUCCESS
FMO2	2327	.	GRCh37	1	171174626	171174626	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	89	0	ENST00000209929.7:c.1036G>C	p.Glu346Gln	p.E346Q	ENST00000209929		346	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS1293.1	1036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGAGAAT	NONE	.	.	hmmpanther:PTHR23023:SF84,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,Superfamily_domains:SSF51905,Prints_domain:PR01122	.	.	ENSP00000405905	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000441535	Transcript	.	.	ENSG00000094963	3770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	tolerated(0.49)	.	FMO2_HUMAN	FMO2	HGNC	B4E2Q9_HUMAN	.	UPI000013C672	SNV	FMO2,missense_variant,p.Glu346Gln,ENST00000441535,;FMO2,missense_variant,p.Glu346Gln,ENST00000209929,;RP1-127D3.4,intron_variant,,ENST00000445909,;RP1-127D3.4,intron_variant,,ENST00000445290,;RP1-127D3.4,intron_variant,,ENST00000422841,;FMO2,non_coding_transcript_exon_variant,,ENST00000529935,;FMO2,upstream_gene_variant,,ENST00000488431,;FMO2,downstream_gene_variant,,ENST00000489354,;	1153	89	114	SUCCESS
KDM5B	10765	.	GRCh37	1	202704644	202704644	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	288	62	276	0	ENST00000367265.3:c.3336G>A	p.Leu1112=	p.L1112=	ENST00000367265	NM_006618.3	1112	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30974.1	3336	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCAAGGG	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3	.	.	ENSP00000356234	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000367265	Transcript	.	.	ENSG00000117139	18039	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KDM5B_HUMAN	KDM5B	HGNC	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN	.	UPI0000032AA2	SNV	KDM5B,synonymous_variant,p.%3D,ENST00000235790,;KDM5B,synonymous_variant,p.%3D,ENST00000367264,;KDM5B,synonymous_variant,p.%3D,ENST00000367265,;KDM5B,non_coding_transcript_exon_variant,,ENST00000472822,;KDM5B,upstream_gene_variant,,ENST00000491153,;	4501	276	350	SUCCESS
PPFIA4	8497	.	GRCh37	1	203037705	203037705	+	synonymous_variant	Silent	SNP	C	C	T	rs200137584	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	56	86	0	ENST00000447715.2:c.3207C>T	p.Phe1069=	p.F1069=	ENST00000447715		1069	ttC/ttT	0	T:0	.	.	.	.	T	F	protein_coding	YES	CCDS44296.1	1755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCGACCA	CODON|p.D1216N|c.3646G>A|3	byCluster	.	PROSITE_profiles:PS50105,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	T:0.0005	ENSP00000272198	.	14/17	.	.	.	.	.	.	.	.	rs200137584	14/17	PASS	ENST00000272198	Transcript	.	.	ENSG00000143847	9248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPA4_HUMAN	PPFIA4	HGNC	.	.	UPI00001C0CC6	SNV	PPFIA4,synonymous_variant,p.%3D,ENST00000295706,;PPFIA4,synonymous_variant,p.%3D,ENST00000272198,;PPFIA4,synonymous_variant,p.%3D,ENST00000599966,;PPFIA4,synonymous_variant,p.%3D,ENST00000367240,;PPFIA4,synonymous_variant,p.%3D,ENST00000414050,;PPFIA4,synonymous_variant,p.%3D,ENST00000600426,;PPFIA4,synonymous_variant,p.%3D,ENST00000447715,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000486360,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000597023,;PPFIA4,downstream_gene_variant,,ENST00000594656,;	2348	86	99	SUCCESS
DNAH14	127602	.	GRCh37	1	225510419	225510419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	42	192	0	ENST00000445597.2:c.7151T>C	p.Ile2384Thr	p.I2384T	ENST00000445597		2384	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	.	.	7151	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTATTCTTC	NONE	.	.	Pfam_domain:PF12777,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676	.	.	ENSP00000409472	.	42/61	.	.	.	.	.	.	.	.	.	42/61	PASS	ENST00000445597	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0001642868	SNV	DNAH14,missense_variant,p.Ile2384Thr,ENST00000445597,;DNAH14,missense_variant,p.Ile3037Thr,ENST00000430092,;DNAH14,missense_variant,p.Ile3037Thr,ENST00000439375,;DNAH14,missense_variant,p.Ile835Thr,ENST00000327794,;	7151	192	219	SUCCESS
ARID1A	8289	.	GRCh37	1	27105581	27105582	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	46	206	0	ENST00000324856.7:c.5195dup	p.Glu1733GlyfsTer3	p.E1733Gfs*3	ENST00000324856	NM_006015.4	1731	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS285.1	5192-5193	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTTTAAAGG	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	insertion	ARID1A,frameshift_variant,p.Glu1516GlyfsTer3,ENST00000457599,;ARID1A,frameshift_variant,p.Glu1350GlyfsTer3,ENST00000374152,;ARID1A,frameshift_variant,p.Glu630GlyfsTer3,ENST00000430799,;ARID1A,frameshift_variant,p.Glu61GlyfsTer3,ENST00000540690,;ARID1A,frameshift_variant,p.Glu1733GlyfsTer3,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	5563-5564	206	135	SUCCESS
DHCR24	1718	.	GRCh37	1	55340777	55340777	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1218323792	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	98	0	ENST00000371269.3:c.601C>T	p.Arg201Ter	p.R201*	ENST00000371269	NM_014762.3	201	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS600.1	601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCGCACAA	NONE	.	.	PROSITE_profiles:PS51387,hmmpanther:PTHR10801:SF0,hmmpanther:PTHR10801,Pfam_domain:PF01565,Gene3D:3.30.465.10,Superfamily_domains:SSF56176	.	.	ENSP00000360316	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000371269	Transcript	.	.	ENSG00000116133	2859	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHC24_HUMAN	DHCR24	HGNC	Q3LIE7_HUMAN,B7Z546_HUMAN	.	UPI00000335D4	SNV	DHCR24,stop_gained,p.Arg33Ter,ENST00000537443,;DHCR24,stop_gained,p.Arg160Ter,ENST00000535035,;DHCR24,stop_gained,p.Arg201Ter,ENST00000371269,;	700	98	69	SUCCESS
XKR7	343702	.	GRCh37	20	30556166	30556166	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1294070844	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	69	0	ENST00000562532.2:c.188C>T	p.Ala63Val	p.A63V	ENST00000562532	NM_001011718.1	63	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33459.1	188	MUTECT|MUSE	.	GTGCGCGCTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815	.	.	ENSP00000477059	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000562532	Transcript	.	.	ENSG00000260903	23062	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.849)	.	deleterious(0.03)	.	XKR7_HUMAN	XKR7	HGNC	.	.	UPI00004C7A9E	SNV	XKR7,missense_variant,p.Ala63Val,ENST00000562532,;	362	69	58	SUCCESS
BIRC7	79444	.	GRCh37	20	61870579	61870579	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	43	0	ENST00000217169.3:c.643G>A	p.Glu215Lys	p.E215K	ENST00000217169	NM_139317.2	215	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13513.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGAGCCA	NONE	.	.	hmmpanther:PTHR10044	.	.	ENSP00000217169	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000217169	Transcript	.	.	ENSG00000101197	13702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	tolerated(0.1)	.	BIRC7_HUMAN	BIRC7	HGNC	.	.	UPI00001269A6	SNV	BIRC7,missense_variant,p.Glu128Lys,ENST00000395306,;BIRC7,missense_variant,p.Glu215Lys,ENST00000217169,;BIRC7,missense_variant,p.Glu215Lys,ENST00000342412,;NKAIN4,downstream_gene_variant,,ENST00000370307,;NKAIN4,downstream_gene_variant,,ENST00000370317,;NKAIN4,downstream_gene_variant,,ENST00000370313,;NKAIN4,downstream_gene_variant,,ENST00000370316,;MIR3196,downstream_gene_variant,,ENST00000579556,;NKAIN4,downstream_gene_variant,,ENST00000466885,;NKAIN4,downstream_gene_variant,,ENST00000470246,;NKAIN4,downstream_gene_variant,,ENST00000461738,;NKAIN4,downstream_gene_variant,,ENST00000486495,;	857	43	45	SUCCESS
ZNRF3	84133	.	GRCh37	22	29438502	29438502	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	65	0	ENST00000544604.2:c.446G>C	p.Arg149Pro	p.R149P	ENST00000544604	NM_001206998.1	149	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS56225.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGGGAG	NONE	.	.	hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200	.	.	ENSP00000443824	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000544604	Transcript	.	.	ENSG00000183579	18126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZNRF3_HUMAN	ZNRF3	HGNC	.	.	UPI0000EE5944	SNV	ZNRF3,missense_variant,p.Arg49Pro,ENST00000406323,;ZNRF3,missense_variant,p.Arg49Pro,ENST00000332811,;ZNRF3,missense_variant,p.Arg49Pro,ENST00000402174,;ZNRF3,missense_variant,p.Arg149Pro,ENST00000544604,;	621	65	51	SUCCESS
IL2RB	3560	.	GRCh37	22	37524843	37524843	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143857582	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	79	0	ENST00000216223.5:c.949G>A	p.Gly317Ser	p.G317S	ENST00000216223	NM_000878.3	317	Ggc/Agc	0	T:0	T:0	.	T:0.0014	.	T	G/S	protein_coding	YES	CCDS13942.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGCCAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23037:SF23,hmmpanther:PTHR23037	T:0	T:0.0024	ENSP00000216223	T:0.001	10/10	.	.	.	.	.	.	.	.	rs143857582	10/10	common_in_exac	ENST00000216223	Transcript	.	T:0.0004	ENSG00000100385	6009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	T:0	tolerated(0.32)	.	IL2RB_HUMAN	IL2RB	HGNC	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN	.	UPI000000128F	SNV	IL2RB,missense_variant,p.Gly317Ser,ENST00000216223,;IL2RB,non_coding_transcript_exon_variant,,ENST00000483573,;	1148	79	56	SUCCESS
SBF1	6305	.	GRCh37	22	50906873	50906873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	44	0	ENST00000380817.3:c.73G>T	p.Gly25Cys	p.G25C	ENST00000380817	NM_002972.2	25	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS14091.2	73	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGCCCTGGC	NONE	.	.	PROSITE_profiles:PS50946,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF03456,SMART_domains:SM00800	.	.	ENSP00000370196	.	2/41	.	.	.	.	.	.	.	.	.	2/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,missense_variant,p.Gly25Cys,ENST00000390679,;SBF1,missense_variant,p.Gly25Cys,ENST00000348911,;SBF1,missense_variant,p.Gly25Cys,ENST00000380817,;SBF1,non_coding_transcript_exon_variant,,ENST00000399627,;SBF1,upstream_gene_variant,,ENST00000477234,;	257	44	42	SUCCESS
ZC3H6	376940	.	GRCh37	2	113067682	113067682	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	106	0	ENST00000343936.4:c.557G>A	p.Gly186Glu	p.G186E	ENST00000343936		186	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS46393.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGGTCAT	NONE	.	.	hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22	.	.	ENSP00000386764	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000409871	Transcript	.	.	ENSG00000188177	24762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	tolerated(0.07)	.	ZC3H6_HUMAN	ZC3H6	HGNC	.	.	UPI00004215E8	SNV	ZC3H6,missense_variant,p.Gly186Glu,ENST00000343936,;ZC3H6,missense_variant,p.Gly186Glu,ENST00000409871,;ZC3H6,non_coding_transcript_exon_variant,,ENST00000476511,;	958	106	66	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125521613	125521613	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	8	220	0	ENST00000431078.1:c.2419T>A	p.Phe807Ile	p.F807I	ENST00000431078	NM_130773.3	807	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS46401.1	2419	MUTECT|MUSE	.	CTACCTTCCAT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.1)	.	deleterious(0.01)	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.Phe807Ile,ENST00000431078,;	2783	220	159	SUCCESS
RAPGEF4	11069	.	GRCh37	2	173686605	173686605	+	intron_variant	Intron	SNP	G	G	A	rs374213818	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	44	0	ENST00000397081.3:c.444+7452G>A		p.*148*	ENST00000397081	NM_007023.3			0	A:0	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS42775.1	.	RADIA|VARSCANS	.	TGAACGGCAAT	NONE	byCluster|by1000G	.	.	A:0	A:0.0003	ENSP00000380271	A:0	.	.	.	.	.	.	.	.	.	rs374213818	.	PASS	ENST00000397081	Transcript	.	A:0.0002	ENSG00000091428	16626	.	.	MODIFIER	4/30	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	RPGF4_HUMAN	RAPGEF4	HGNC	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN	.	UPI000006D4C7	SNV	RAPGEF4,5_prime_UTR_variant,,ENST00000397087,;RAPGEF4,intron_variant,,ENST00000409036,;RAPGEF4,intron_variant,,ENST00000264111,;RAPGEF4,intron_variant,,ENST00000397081,;RAPGEF4,intron_variant,,ENST00000484331,;	.	44	31	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098799	178098799	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	164	0	ENST00000397062.3:c.246A>C	p.Glu82Asp	p.E82D	ENST00000397062	NM_006164.4	82	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS42782.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATTCACC	SITE|p.E82D|c.246A>C|3,CODON|p.E82D|c.246A>T|6,CODON|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81D|c.242G>A|6,BUFFER|p.G81V|c.242G>T|7,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132860,COSM251434	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Glu66Asp,ENST00000423513,;NFE2L2,missense_variant,p.Glu82Asp,ENST00000397062,;NFE2L2,missense_variant,p.Glu66Asp,ENST00000446151,;NFE2L2,missense_variant,p.Glu66Asp,ENST00000588123,;NFE2L2,missense_variant,p.Glu81Asp,ENST00000586532,;NFE2L2,missense_variant,p.Glu66Asp,ENST00000421929,;NFE2L2,missense_variant,p.Glu66Asp,ENST00000464747,;NFE2L2,missense_variant,p.Glu66Asp,ENST00000448782,;NFE2L2,missense_variant,p.Glu66Asp,ENST00000397063,;NFE2L2,splice_region_variant,,ENST00000449627,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	801	164	112	SUCCESS
ANKZF1	55139	.	GRCh37	2	220095010	220095010	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs767131449	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	34	191	0	ENST00000323348.5:c.31C>G	p.Pro11Ala	p.P11A	ENST00000323348	NM_018089.2	11	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS42821.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTCCTGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16036,hmmpanther:PTHR16036:SF2	.	.	ENSP00000321617	.	2/14	.	.	.	.	.	.	.	.	rs767131449	2/14	PASS	ENST00000323348	Transcript	.	.	ENSG00000163516	25527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.04)	.	ANKZ1_HUMAN	ANKZF1	HGNC	C9K022_HUMAN,C9JS61_HUMAN,C9JQZ3_HUMAN,B8ZZS4_HUMAN	.	UPI000007069C	SNV	ANKZF1,missense_variant,p.Pro11Ala,ENST00000447157,;ANKZF1,missense_variant,p.Pro11Ala,ENST00000323348,;ANKZF1,missense_variant,p.Pro11Ala,ENST00000410034,;ANKZF1,missense_variant,p.Pro11Ala,ENST00000416565,;ANKZF1,missense_variant,p.Pro11Ala,ENST00000436226,;ANKZF1,intron_variant,,ENST00000409849,;ANKZF1,intron_variant,,ENST00000453432,;ATG9A,upstream_gene_variant,,ENST00000439812,;ATG9A,upstream_gene_variant,,ENST00000432520,;ATG9A,upstream_gene_variant,,ENST00000409422,;ATG9A,upstream_gene_variant,,ENST00000396761,;ATG9A,upstream_gene_variant,,ENST00000436856,;ATG9A,upstream_gene_variant,,ENST00000434939,;ATG9A,upstream_gene_variant,,ENST00000431715,;ATG9A,upstream_gene_variant,,ENST00000428226,;ATG9A,upstream_gene_variant,,ENST00000443140,;ATG9A,upstream_gene_variant,,ENST00000361242,;ATG9A,upstream_gene_variant,,ENST00000457841,;ATG9A,upstream_gene_variant,,ENST00000409618,;ATG9A,upstream_gene_variant,,ENST00000488833,;ANKZF1,missense_variant,p.Pro11Ala,ENST00000435521,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000474225,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000463792,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000486203,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000461731,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000477479,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000491181,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000464763,;ANKZF1,intron_variant,,ENST00000496346,;ANKZF1,intron_variant,,ENST00000475202,;ANKZF1,intron_variant,,ENST00000467884,;ANKZF1,upstream_gene_variant,,ENST00000490526,;ANKZF1,upstream_gene_variant,,ENST00000465550,;ANKZF1,upstream_gene_variant,,ENST00000468387,;ATG9A,upstream_gene_variant,,ENST00000466217,;ATG9A,upstream_gene_variant,,ENST00000486766,;ATG9A,upstream_gene_variant,,ENST00000412355,;ATG9A,upstream_gene_variant,,ENST00000455079,;ANKZF1,upstream_gene_variant,,ENST00000494886,;ATG9A,upstream_gene_variant,,ENST00000456708,;ANKZF1,upstream_gene_variant,,ENST00000493563,;ANKZF1,upstream_gene_variant,,ENST00000489580,;ANKZF1,upstream_gene_variant,,ENST00000483188,;ATG9A,upstream_gene_variant,,ENST00000409033,;	205	191	129	SUCCESS
PAX3	5077	.	GRCh37	2	223084872	223084872	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs987480491	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	167	0	ENST00000350526.4:c.1160G>A	p.Gly387Asp	p.G387D	ENST00000350526	NM_181457.3	387	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2448.1	1160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCCATTG	NONE	.	.	hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329,Pfam_domain:PF12360	.	.	ENSP00000375921	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	deleterious_low_confidence(0)	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,missense_variant,p.Gly387Asp,ENST00000392070,;PAX3,missense_variant,p.Gly387Asp,ENST00000336840,;PAX3,missense_variant,p.Gly387Asp,ENST00000392069,;PAX3,missense_variant,p.Gly387Asp,ENST00000344493,;PAX3,missense_variant,p.Gly386Asp,ENST00000409551,;PAX3,missense_variant,p.Gly387Asp,ENST00000350526,;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,non_coding_transcript_exon_variant,,ENST00000555548,;	1526	167	111	SUCCESS
HJURP	55355	.	GRCh37	2	234749510	234749510	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	43	0	ENST00000411486.2:c.1916T>G	p.Leu639Trp	p.L639W	ENST00000411486	NM_018410.3	639	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS33406.1	1916	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGGCAACTTC	NONE	.	.	hmmpanther:PTHR15992	.	.	ENSP00000414109	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000411486	Transcript	.	.	ENSG00000123485	25444	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.329)	.	deleterious(0.05)	.	HJURP_HUMAN	HJURP	HGNC	.	.	UPI000013CB29	SNV	HJURP,missense_variant,p.Leu639Trp,ENST00000411486,;HJURP,missense_variant,p.Leu554Trp,ENST00000414924,;HJURP,missense_variant,p.Leu554Trp,ENST00000441687,;HJURP,missense_variant,p.Leu585Trp,ENST00000432087,;HJURP,downstream_gene_variant,,ENST00000454020,;HJURP,downstream_gene_variant,,ENST00000434039,;HJURP,upstream_gene_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000373395,;HJURP,downstream_gene_variant,,ENST00000453122,;	1982	44	26	SUCCESS
MAP4K3	8491	.	GRCh37	2	39535117	39535117	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	64	0	ENST00000263881.3:c.1086A>G	p.Ser362=	p.S362=	ENST00000263881	NM_003618.3	362	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1803.1	1086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTGAACT	NONE	.	.	hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172	.	.	ENSP00000263881	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000263881	Transcript	.	.	ENSG00000011566	6865	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4K3_HUMAN	MAP4K3	HGNC	Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN	.	UPI00000747E6	SNV	MAP4K3,synonymous_variant,p.%3D,ENST00000263881,;MAP4K3,5_prime_UTR_variant,,ENST00000536018,;MAP4K3,intron_variant,,ENST00000437545,;MAP4K3,intron_variant,,ENST00000341681,;MAP4K3,synonymous_variant,p.%3D,ENST00000414968,;MAP4K3,intron_variant,,ENST00000497566,;	1411	64	46	SUCCESS
ELMOD3	84173	.	GRCh37	2	85617517	85617517	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	14	249	0	ENST00000393852.4:c.943+129A>C		p.*315*	ENST00000393852	NM_001135023.1	358		0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS1973.1	1072	MUTECT|MUSE	.	AGCTTACCAAA	NONE	.	.	.	.	.	ENSP00000318264	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000315658	Transcript	.	.	ENSG00000115459	26158	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.01)	.	ELMD3_HUMAN	ELMOD3	HGNC	E9PI96_HUMAN,D3YTJ5_HUMAN,B8ZZT8_HUMAN	.	UPI0000072463	SNV	ELMOD3,missense_variant,p.Thr358Pro,ENST00000315658,;ELMOD3,intron_variant,,ENST00000409344,;ELMOD3,intron_variant,,ENST00000409013,;ELMOD3,intron_variant,,ENST00000409890,;ELMOD3,intron_variant,,ENST00000393852,;CAPG,downstream_gene_variant,,ENST00000263867,;CAPG,downstream_gene_variant,,ENST00000409670,;CAPG,downstream_gene_variant,,ENST00000409921,;CAPG,downstream_gene_variant,,ENST00000453973,;ELMOD3,downstream_gene_variant,,ENST00000428955,;CAPG,downstream_gene_variant,,ENST00000409724,;RP11-717A5.2,upstream_gene_variant,,ENST00000610137,;ELMOD3,intron_variant,,ENST00000496957,;ELMOD3,intron_variant,,ENST00000490508,;ELMOD3,3_prime_UTR_variant,,ENST00000446464,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000486908,;ELMOD3,intron_variant,,ENST00000410106,;ELMOD3,intron_variant,,ENST00000414593,;ELMOD3,intron_variant,,ENST00000444108,;ELMOD3,intron_variant,,ENST00000423095,;CAPG,downstream_gene_variant,,ENST00000471064,;ELMOD3,downstream_gene_variant,,ENST00000429764,;	1331	249	209	SUCCESS
KIAA1257	0	.	GRCh37	3	128712024	128712024	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765406321	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	181	0	ENST00000265068.5:c.124A>G	p.Arg42Gly	p.R42G	ENST00000265068	NM_020741.2	42	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46905.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTGGCCT	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000265068	.	2/8	.	.	.	.	.	.	.	.	rs765406321	2/8	PASS	ENST00000265068	Transcript	.	.	ENSG00000114656	29231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.5)	.	K1257_HUMAN	KIAA1257	HGNC	.	.	UPI00001C1DE3	SNV	KIAA1257,missense_variant,p.Arg42Gly,ENST00000511438,;KIAA1257,missense_variant,p.Arg42Gly,ENST00000265068,;KIAA1257,upstream_gene_variant,,ENST00000515659,;KIAA1257,intron_variant,,ENST00000510149,;	292	181	117	SUCCESS
BFSP2	8419	.	GRCh37	3	133185754	133185754	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs751496741	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	19	212	0	ENST00000302334.2:c.974C>A	p.Ser325Ter	p.S325*	ENST00000302334	NM_003571.2	325	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS33859.1	974	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCGTGCC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF32,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000304987	.	5/7	.	.	.	.	.	.	.	.	rs751496741,COSM419820	5/7	PASS	ENST00000302334	Transcript	.	.	ENSG00000170819	1041	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	BFSP2_HUMAN	BFSP2	HGNC	.	.	UPI00001268CA	SNV	BFSP2,stop_gained,p.Ser325Ter,ENST00000302334,;BFSP2,non_coding_transcript_exon_variant,,ENST00000510039,;BFSP2,non_coding_transcript_exon_variant,,ENST00000511434,;	1063	212	174	SUCCESS
HTR3E	285242	.	GRCh37	3	183822009	183822009	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	59	0	ENST00000415389.2:c.319T>A	p.Cys107Ser	p.C107S	ENST00000415389	NM_001256613.1	107	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS58871.1	319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATGTGAG	NONE	.	.	hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000406050	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000440596	Transcript	.	.	ENSG00000186038	24005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	5HT3E_HUMAN	HTR3E	HGNC	.	.	UPI000198CB5D	SNV	HTR3E,missense_variant,p.Cys92Ser,ENST00000425359,;HTR3E,missense_variant,p.Cys107Ser,ENST00000440596,;HTR3E,missense_variant,p.Cys36Ser,ENST00000431041,;HTR3E,missense_variant,p.Cys122Ser,ENST00000335304,;HTR3E,missense_variant,p.Cys107Ser,ENST00000436361,;HTR3E,missense_variant,p.Cys107Ser,ENST00000415389,;HTR3E-AS1,non_coding_transcript_exon_variant,,ENST00000431427,;	319	59	44	SUCCESS
CRYGS	1427	.	GRCh37	3	186256648	186256648	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs570966753	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	48	149	0	ENST00000307944.5:c.374G>T	p.Arg125Leu	p.R125L	ENST00000307944		125	cGa/cTa	0	.	G:0.0008	.	G:0	.	A	R/L	protein_coding	YES	CCDS3275.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCGCATG	NONE	by1000G	.	Superfamily_domains:SSF49695,SMART_domains:SM00247,Pfam_domain:PF00030,Gene3D:2.60.20.10,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF6,PROSITE_profiles:PS50915	G:0	.	ENSP00000376287	G:0	4/4	.	.	.	.	.	.	.	.	rs570966753	4/4	PASS	ENST00000392499	Transcript	.	G:0.0002	ENSG00000213139	2417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	G:0	deleterious(0.05)	.	CRBS_HUMAN	CRYGS	HGNC	Q9UFA7_HUMAN	.	UPI000013EC82	SNV	CRYGS,missense_variant,p.Arg125Leu,ENST00000307944,;CRYGS,missense_variant,p.Arg125Leu,ENST00000392499,;CRYGS,non_coding_transcript_exon_variant,,ENST00000460288,;	714	149	119	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057519886	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	67	305	0	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTCTGGA	SITE|p.S33P|c.97T>C|61,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32V|c.95A>T|41,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.D32E|c.96C>A|3,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5682,COSM5683,COSM27311	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.423)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	377	305	218	SUCCESS
TTC29	83894	.	GRCh37	4	147824847	147824847	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	118	0	ENST00000325106.4:c.435T>A	p.Ala145=	p.A145=	ENST00000325106	NM_031956.2	145	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47141.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGAGCATA	NONE	.	.	hmmpanther:PTHR10098	.	.	ENSP00000316740	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000325106	Transcript	.	.	ENSG00000137473	29936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC29_HUMAN	TTC29	HGNC	D6RJF6_HUMAN	.	UPI00001AE7CF	SNV	TTC29,synonymous_variant,p.%3D,ENST00000504425,;TTC29,synonymous_variant,p.%3D,ENST00000398886,;TTC29,synonymous_variant,p.%3D,ENST00000513335,;TTC29,synonymous_variant,p.%3D,ENST00000325106,;TTC29,synonymous_variant,p.%3D,ENST00000508306,;	662	118	84	SUCCESS
FNIP2	57600	.	GRCh37	4	159782775	159782775	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs767742039	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	45	201	0	ENST00000264433.6:c.1312C>G	p.Leu438Val	p.L438V	ENST00000264433	NM_020840.1	438	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS47155.1	1312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTACTGACT	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11,Pfam_domain:PF14637	.	.	ENSP00000264433	.	12/17	.	.	.	.	.	.	.	.	rs767742039	12/17	PASS	ENST00000264433	Transcript	.	.	ENSG00000052795	29280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	tolerated(0.06)	.	FNIP2_HUMAN	FNIP2	HGNC	.	.	UPI00001C1E0A	SNV	FNIP2,missense_variant,p.Leu461Val,ENST00000379346,;FNIP2,missense_variant,p.Leu461Val,ENST00000512986,;FNIP2,missense_variant,p.Leu438Val,ENST00000264433,;FNIP2,downstream_gene_variant,,ENST00000504715,;	1387	201	157	SUCCESS
PROM1	8842	.	GRCh37	4	16014922	16014922	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs137853006	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	81	0	ENST00000447510.2:c.1117C>A	p.Arg373Ser	p.R373S	ENST00000447510	NM_006017.2	373	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47029.1	1117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TTGGCGTTGTA	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3	.	.	ENSP00000426809	.	11/28	.	.	.	.	.	.	.	.	CM083044,rs137853006	11/28	PASS	ENST00000510224	Transcript	1	.	ENSG00000007062	9454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	25802487	benign(0)	.	tolerated(0.25)	.	PROM1_HUMAN	PROM1	HGNC	D6RIF3_HUMAN,D6RBI0_HUMAN	.	UPI000004ECD6	SNV	PROM1,missense_variant,p.Arg364Ser,ENST00000505450,;PROM1,missense_variant,p.Arg373Ser,ENST00000510224,;PROM1,missense_variant,p.Arg364Ser,ENST00000508167,;PROM1,missense_variant,p.Arg364Ser,ENST00000543373,;PROM1,missense_variant,p.Arg373Ser,ENST00000447510,;PROM1,missense_variant,p.Arg373Ser,ENST00000539194,;PROM1,missense_variant,p.Arg373Ser,ENST00000540805,;RNU6-350P,upstream_gene_variant,,ENST00000515949,;PROM1,3_prime_UTR_variant,,ENST00000511153,;	1366	81	61	SUCCESS
FGFR3	2261	.	GRCh37	4	1808893	1808893	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	182	0	ENST00000260795.2:c.2325G>A	p.Gln775=	p.Q775=	ENST00000260795		775	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS54706.1	2331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGGACAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416:SF128,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000628	.	.	ENSP00000339824	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000340107	Transcript	1	.	ENSG00000068078	3690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGFR3_HUMAN	FGFR3	HGNC	Q8NI16_HUMAN	.	UPI000002A9AC	SNV	FGFR3,missense_variant,p.Gly753Arg,ENST00000481110,;FGFR3,synonymous_variant,p.%3D,ENST00000352904,;FGFR3,synonymous_variant,p.%3D,ENST00000412135,;FGFR3,synonymous_variant,p.%3D,ENST00000440486,;FGFR3,synonymous_variant,p.%3D,ENST00000260795,;FGFR3,synonymous_variant,p.%3D,ENST00000340107,;LETM1,downstream_gene_variant,,ENST00000302787,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,downstream_gene_variant,,ENST00000469068,;	2587	182	119	SUCCESS
PTTG2	10744	.	GRCh37	4	37962092	37962092	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	51	167	0	ENST00000504686.1:c.37G>T	p.Glu13Ter	p.E13*	ENST00000504686	NM_006607.2	13	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54755.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGAACCA	NONE	.	.	hmmpanther:PTHR10418,Pfam_domain:PF04856	.	.	ENSP00000424261	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504686	Transcript	.	.	ENSG00000250254	9691	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTTG2_HUMAN	PTTG2	HGNC	.	.	UPI000020AF94	SNV	PTTG2,stop_gained,p.Glu13Ter,ENST00000504686,;TBC1D1,intron_variant,,ENST00000261439,;TBC1D1,intron_variant,,ENST00000508802,;TBC1D1,intron_variant,,ENST00000510573,;AC021106.1,non_coding_transcript_exon_variant,,ENST00000455272,;	37	167	146	SUCCESS
DGKQ	1609	.	GRCh37	4	967112	967112	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	52	0	ENST00000273814.3:c.159G>T	p.Pro53=	p.P53=	ENST00000273814	NM_001347.3	53	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3342.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGGGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000273814	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000273814	Transcript	.	.	ENSG00000145214	2856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKQ_HUMAN	DGKQ	HGNC	.	.	UPI00001AE9B4	SNV	DGKQ,synonymous_variant,p.%3D,ENST00000273814,;DGKQ,intron_variant,,ENST00000510286,;DGKQ,upstream_gene_variant,,ENST00000509465,;	233	52	26	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128958013	128958013	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	51	222	0	ENST00000274487.4:c.1724C>G	p.Pro575Arg	p.P575R	ENST00000274487	NM_133638.3	575	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS4146.1	1724	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCATTGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,SMART_domains:SM00608	.	.	ENSP00000274487	.	10/23	.	.	.	.	.	.	.	.	COSM1541495	10/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.048)	.	tolerated(0.06)	1	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Pro575Arg,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1869	222	215	SUCCESS
PCDHA6	56142	.	GRCh37	5	140209065	140209065	+	synonymous_variant	Silent	SNP	C	C	T	rs781847846	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	277	28	354	1	ENST00000529310.1:c.1389C>T	p.Phe463=	p.F463=	ENST00000529310	NM_018909.2	463	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS47281.1	1389	MUTECT|MUSE|VARSCANS	.	GTGTTCGTGAA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	rs781847846	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,synonymous_variant,p.%3D,ENST00000527624,;PCDHA6,synonymous_variant,p.%3D,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	1503	355	305	SUCCESS
HAVCR1	26762	.	GRCh37	5	156479625	156479625	+	synonymous_variant	Silent	SNP	G	G	A	rs566987531	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	244	20	288	0	ENST00000339252.3:c.420C>T	p.Thr140=	p.T140=	ENST00000339252	NM_012206.2	140	acC/acT	0	.	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS43392.1	420	MUTECT|MUSE	.	GTGACGGTTGG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15498:SF8,hmmpanther:PTHR15498	A:0	.	ENSP00000344844	A:0	3/8	.	.	.	.	.	.	.	.	rs566987531,COSM737076	3/8	PASS	ENST00000339252	Transcript	.	A:0.0002	ENSG00000113249	17866	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0.001	.	0,1	HAVR1_HUMAN	HAVCR1	HGNC	E5RIF6_HUMAN	.	UPI000006EEEC	SNV	HAVCR1,synonymous_variant,p.%3D,ENST00000425854,;HAVCR1,synonymous_variant,p.%3D,ENST00000339252,;HAVCR1,synonymous_variant,p.%3D,ENST00000523175,;HAVCR1,synonymous_variant,p.%3D,ENST00000544197,;HAVCR1,synonymous_variant,p.%3D,ENST00000518745,;HAVCR1,synonymous_variant,p.%3D,ENST00000522693,;HAVCR1,upstream_gene_variant,,ENST00000517644,;	953	288	265	SUCCESS
MYO10	4651	.	GRCh37	5	16794852	16794852	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs192053260	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	50	92	0	ENST00000513610.1:c.370C>T	p.Arg124Cys	p.R124C	ENST00000513610	NM_012334.2	124	Cgc/Tgc	0	A:0.0002	A:0.0023	.	A:0	.	A	R/C	protein_coding	YES	CCDS54834.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGCCGGC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	A:0	A:0.0001	ENSP00000421280	A:0	4/41	.	.	.	.	.	.	.	.	rs192053260	4/41	PASS	ENST00000513610	Transcript	.	A:0.0006	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated(0.14)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Arg135Cys,ENST00000513882,;MYO10,missense_variant,p.Arg124Cys,ENST00000513610,;MYO10,missense_variant,p.Arg91Cys,ENST00000502436,;	825	92	105	SUCCESS
CDHR2	54825	.	GRCh37	5	176011757	176011757	+	synonymous_variant	Silent	SNP	C	C	T	rs180931810	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	38	124	0	ENST00000261944.5:c.2475C>T	p.His825=	p.H825=	ENST00000261944	NM_017675.4	825	caC/caT	0	T:0.0002	T:0.0008	.	T:0.0014	.	T	H	protein_coding	YES	CCDS34297.1	2475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACGGCCA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF286,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	T:0.001	T:0	ENSP00000424565	T:0	19/32	.	.	.	.	.	.	.	.	rs180931810	19/32	PASS	ENST00000510636	Transcript	.	T:0.0008	ENSG00000074276	18231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,synonymous_variant,p.%3D,ENST00000261944,;CDHR2,synonymous_variant,p.%3D,ENST00000506348,;CDHR2,synonymous_variant,p.%3D,ENST00000510636,;CDHR2,upstream_gene_variant,,ENST00000513031,;CDHR2,upstream_gene_variant,,ENST00000508085,;	2749	124	157	SUCCESS
CDH18	1016	.	GRCh37	5	19838935	19838944	+	frameshift_variant	Frame_Shift_Del	DEL	CCCCTTTTGG	CCCCTTTTGG	-	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	CCCCTTTTGG	CCCCTTTTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	139	0	ENST00000274170.4:c.152_161del	p.Pro51HisfsTer10	p.P51Hfs*10	ENST00000274170		51	cCCAAAAGGGGa/ca	0	.	.	.	.	.	-	PKRG/X	protein_coding	YES	CCDS3889.1	152-161	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCCATCCCCTTTTGGGACGA	BUFFER|p.R50C|c.148C>T|4,BUFFER|p.R50C|c.148C>T|4	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	.	.	ENSP00000425093	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	deletion	CDH18,frameshift_variant,p.Pro51HisfsTer10,ENST00000274170,;CDH18,frameshift_variant,p.Pro51HisfsTer10,ENST00000506372,;CDH18,frameshift_variant,p.Pro51HisfsTer10,ENST00000507958,;CDH18,frameshift_variant,p.Pro51HisfsTer10,ENST00000502796,;CDH18,frameshift_variant,p.Pro51HisfsTer10,ENST00000382275,;CDH18,frameshift_variant,p.Pro51HisfsTer10,ENST00000511273,;CDH18,upstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000507632,;CDH18,downstream_gene_variant,,ENST00000511423,;CDH18,downstream_gene_variant,,ENST00000503132,;	1143-1152	139	117	SUCCESS
PCSK1	5122	.	GRCh37	5	95733104	95733104	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	33	144	0	ENST00000311106.3:c.1658del	p.Phe553SerfsTer12	p.F553Sfs*12	ENST00000311106	NM_000439.4	553	tTc/tc	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS4081.1	1658	INDELOCATOR*|VARSCANI*|PINDEL	.	GACATGAAGTCC	NONE	.	.	hmmpanther:PTHR10795:SF343,hmmpanther:PTHR10795,Gene3D:2.60.120.260,Pfam_domain:PF01483,Superfamily_domains:SSF49785	.	.	ENSP00000308024	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000311106	Transcript	1	.	ENSG00000175426	8743	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEC1_HUMAN	PCSK1	HGNC	D6RJA3_HUMAN	.	UPI000013F0F5	deletion	PCSK1,frameshift_variant,p.Phe553SerfsTer12,ENST00000311106,;PCSK1,frameshift_variant,p.Phe506SerfsTer12,ENST00000508626,;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;	1896	144	175	SUCCESS
MOXD1	26002	.	GRCh37	6	132649562	132649562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	107	0	ENST00000367963.3:c.835G>T	p.Gly279Cys	p.G279C	ENST00000367963	NM_015529.2	279	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5152.2	835	MUTECT|MUSE	.	TCCACCAATAG	NONE	.	.	Prints_domain:PR00767,Superfamily_domains:SSF49742,Gene3D:1yi9A01,Pfam_domain:PF01082,hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF21	.	.	ENSP00000356940	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000367963	Transcript	.	.	ENSG00000079931	21063	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MOXD1_HUMAN	MOXD1	HGNC	.	.	UPI000003F04F	SNV	MOXD1,missense_variant,p.Gly211Cys,ENST00000336749,;MOXD1,missense_variant,p.Gly279Cys,ENST00000367963,;MOXD1,upstream_gene_variant,,ENST00000489128,;	954	107	90	SUCCESS
TIAM2	26230	.	GRCh37	6	155498016	155498016	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	35	88	0	ENST00000318981.5:c.2428A>T	p.Ile810Phe	p.I810F	ENST00000318981	NM_012454.3	810	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS34558.1	2428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAATCCAG	NONE	.	.	PROSITE_profiles:PS50898,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826,SMART_domains:SM00455	.	.	ENSP00000437188	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.23)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Ile810Phe,ENST00000461783,;TIAM2,missense_variant,p.Ile810Phe,ENST00000318981,;TIAM2,missense_variant,p.Ile146Phe,ENST00000528391,;TIAM2,missense_variant,p.Ile810Phe,ENST00000528535,;TIAM2,missense_variant,p.Ile810Phe,ENST00000456144,;TIAM2,missense_variant,p.Ile186Phe,ENST00000367174,;TIAM2,missense_variant,p.Ile810Phe,ENST00000529824,;TIAM2,missense_variant,p.Ile834Phe,ENST00000360366,;TIAM2,missense_variant,p.Ile122Phe,ENST00000456877,;	3701	88	66	SUCCESS
OSTCP1	202459	.	GRCh37	6	159262851	159262851	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	116	0	ENST00000522287.1:n.493T>C		p.*165*	ENST00000522287				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAATCTAT	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000522287	Transcript	.	.	ENSG00000243775	30530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OSTCP1	HGNC	.	.	.	SNV	OSTCP1,non_coding_transcript_exon_variant,,ENST00000522287,;OSTCP1,non_coding_transcript_exon_variant,,ENST00000455507,;	493	116	83	SUCCESS
TULP1	7287	.	GRCh37	6	35471393	35471393	+	synonymous_variant	Silent	SNP	G	G	A	rs747534563	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	71	0	ENST00000229771.6:c.1266C>T	p.Thr422=	p.T422=	ENST00000229771	NM_003322.3	422	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4807.1	1266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGGTCAT	NONE	byFrequency	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12,Gene3D:3c5nA00,Pfam_domain:PF01167,Superfamily_domains:SSF54518,Prints_domain:PR01573	.	.	ENSP00000229771	.	13/15	.	.	.	.	.	.	.	.	rs747534563	13/15	PASS	ENST00000229771	Transcript	.	.	ENSG00000112041	12423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TULP1_HUMAN	TULP1	HGNC	Q0QD38_HUMAN	.	UPI000045742A	SNV	TULP1,synonymous_variant,p.%3D,ENST00000229771,;TULP1,synonymous_variant,p.%3D,ENST00000322263,;TULP1,non_coding_transcript_exon_variant,,ENST00000496434,;TULP1,non_coding_transcript_exon_variant,,ENST00000495781,;TULP1,downstream_gene_variant,,ENST00000373892,;	1346	71	53	SUCCESS
DST	667	.	GRCh37	6	56566691	56566691	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs183558657	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	128	0	ENST00000312431.6:c.316C>T	p.Arg106Cys	p.R106C	ENST00000312431		106	Cgc/Tgc	0	.	A:0	.	A:0.0014	.	A	R/C	protein_coding	.	.	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGTCTTT	SITE|p.R106C|c.316C>T|3,SITE|p.R284C|c.850C>T|3	by1000G	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	A:0	.	ENSP00000359824	A:0	4/93	.	.	.	.	.	.	.	.	rs183558657,COSM3411225,COSM3411224	4/93	PASS	ENST00000370788	Transcript	.	A:0.0002	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.854)	A:0	.	0,1,1	.	DST	HGNC	Q8WXY3_HUMAN,E7ESK0_HUMAN,E7ERU0_HUMAN	.	UPI0001E8F796	SNV	DST,missense_variant,p.Arg106Cys,ENST00000370788,;DST,missense_variant,p.Arg146Cys,ENST00000520645,;DST,missense_variant,p.Arg57Cys,ENST00000522538,;DST,missense_variant,p.Arg284Cys,ENST00000449297,;DST,missense_variant,p.Arg284Cys,ENST00000370754,;DST,missense_variant,p.Arg106Cys,ENST00000361203,;DST,missense_variant,p.Arg106Cys,ENST00000370769,;DST,missense_variant,p.Arg106Cys,ENST00000312431,;DST,missense_variant,p.Arg99Cys,ENST00000523817,;DST,missense_variant,p.Arg106Cys,ENST00000421834,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000521821,;	836	128	82	SUCCESS
BAI3	0	.	GRCh37	6	69703824	69703824	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	86	0	ENST00000370598.1:c.1899A>G	p.Ala633=	p.A633=	ENST00000370598	NM_001704.2	633	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS4968.1	1899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCAAGTTA	NONE	.	.	hmmpanther:PTHR12011:SF40,hmmpanther:PTHR12011,Pfam_domain:PF12003,Prints_domain:PR01694	.	.	ENSP00000359630	.	11/32	.	.	.	.	.	.	.	.	COSM1445643	11/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,synonymous_variant,p.%3D,ENST00000370598,;	2720	86	84	SUCCESS
LCA5	167691	.	GRCh37	6	80196750	80196750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	119	0	ENST00000369846.4:c.2065G>T	p.Asp689Tyr	p.D689Y	ENST00000369846	NM_001122769.2	689	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS4990.1	2065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCTTCTA	NONE	.	.	hmmpanther:PTHR16650:SF8,hmmpanther:PTHR16650	.	.	ENSP00000376686	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,missense_variant,p.Asp689Tyr,ENST00000369846,;LCA5,missense_variant,p.Asp689Tyr,ENST00000392959,;LCA5,downstream_gene_variant,,ENST00000467898,;	2677	119	90	SUCCESS
SDK1	221935	.	GRCh37	7	3678680	3678680	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143792155	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	29	112	0	ENST00000404826.2:c.503G>A	p.Arg168His	p.R168H	ENST00000404826	NM_152744.3	168	cGc/cAc	0	A:0	A:0	.	A:0.0014	.	A	R/H	protein_coding	YES	CCDS34590.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGCTGCG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	A:0.0001	ENSP00000385899	A:0	3/45	.	.	.	.	.	.	.	.	rs143792155	3/45	PASS	ENST00000404826	Transcript	.	A:0.0002	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	A:0	tolerated(0.09)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Arg168His,ENST00000404826,;SDK1,missense_variant,p.Arg168His,ENST00000389531,;AC011284.3,downstream_gene_variant,,ENST00000427920,;	642	112	123	SUCCESS
HECW1	23072	.	GRCh37	7	43484273	43484273	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	83	0	ENST00000395891.2:c.1502A>G	p.Glu501Gly	p.E501G	ENST00000395891	NM_015052.3	501	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS5469.2	1502	MUTECT|MUSE	.	GGAAGAAGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.14)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Glu501Gly,ENST00000453890,;HECW1,missense_variant,p.Glu501Gly,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2107	83	87	SUCCESS
SEMA3D	223117	.	GRCh37	7	84628838	84628838	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	75	292	0	ENST00000284136.6:c.2252A>C	p.Lys751Thr	p.K751T	ENST00000284136	NM_152754.2	751	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS34676.1	2252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTTCCAC	NONE	.	.	hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036	.	.	ENSP00000284136	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,missense_variant,p.Lys751Thr,ENST00000284136,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;	2296	292	283	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145773562	145773562	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	61	0	ENST00000276826.5:c.908C>T	p.Ser303Phe	p.S303F	ENST00000276826		303	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS34971.1	908	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGAGGAG	NONE	.	.	hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177	.	.	ENSP00000366522	.	4/11	.	.	.	.	.	.	.	.	COSM1187674	4/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.983)	.	deleterious(0)	1	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,missense_variant,p.Ser303Phe,ENST00000540274,;ARHGAP39,missense_variant,p.Ser303Phe,ENST00000276826,;ARHGAP39,missense_variant,p.Ser303Phe,ENST00000377307,;ARHGAP39,upstream_gene_variant,,ENST00000528810,;AC084125.1,upstream_gene_variant,,ENST00000536320,;	993	61	55	SUCCESS
ST18	9705	.	GRCh37	8	53085080	53085080	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	34	0	ENST00000276480.7:c.341G>A	p.Arg114Lys	p.R114K	ENST00000276480	NM_014682.2	114	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS6149.1	341	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCTACTG	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	.	.	ENSP00000276480	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.41)	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,missense_variant,p.Arg114Lys,ENST00000517580,;ST18,missense_variant,p.Arg114Lys,ENST00000276480,;ST18,non_coding_transcript_exon_variant,,ENST00000520257,;ST18,missense_variant,p.Arg114Lys,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;	1025	34	59	SUCCESS
SWI5	375757	.	GRCh37	9	131038585	131038585	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs978957695	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	119	0	ENST00000320188.5:c.161C>T	p.Pro54Leu	p.P54L	ENST00000320188	NM_001040011.1	54	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43883.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCGGTGC	NONE	.	.	.	.	.	ENSP00000316609	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000320188	Transcript	.	.	ENSG00000175854	31412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.24)	.	SWI5_HUMAN	SWI5	HGNC	.	.	UPI00001D76F5	SNV	SWI5,missense_variant,p.Pro54Leu,ENST00000320188,;SWI5,5_prime_UTR_variant,,ENST00000418976,;SWI5,5_prime_UTR_variant,,ENST00000419867,;SWI5,5_prime_UTR_variant,,ENST00000608796,;SWI5,intron_variant,,ENST00000372898,;SWI5,intron_variant,,ENST00000495313,;GOLGA2,upstream_gene_variant,,ENST00000609374,;GOLGA2,upstream_gene_variant,,ENST00000458730,;GOLGA2,upstream_gene_variant,,ENST00000490628,;GOLGA2,upstream_gene_variant,,ENST00000421699,;GOLGA2,upstream_gene_variant,,ENST00000450617,;	161	119	72	SUCCESS
FOCAD	54914	.	GRCh37	9	20926358	20926358	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	109	1	ENST00000338382.6:c.3020T>A	p.Leu1007Ter	p.L1007*	ENST00000338382		1007	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS34993.1	3020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTGGTCA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4	.	.	ENSP00000369599	.	28/46	.	.	.	.	.	.	.	.	.	28/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,stop_gained,p.Leu1007Ter,ENST00000380249,;FOCAD,stop_gained,p.Leu443Ter,ENST00000605086,;FOCAD,stop_gained,p.Leu1007Ter,ENST00000338382,;FOCAD,upstream_gene_variant,,ENST00000603695,;FOCAD,upstream_gene_variant,,ENST00000604254,;FOCAD,upstream_gene_variant,,ENST00000603044,;	3384	110	69	SUCCESS
GLDC	2731	.	GRCh37	9	6592200	6592200	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	63	0	ENST00000321612.6:c.1425A>G	p.Thr475=	p.T475=	ENST00000321612	NM_000170.2	475	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS34987.1	1425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACTGTTTC	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,hmmpanther:PTHR11773,HAMAP:MF_00711	.	.	ENSP00000370737	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000321612	Transcript	.	.	ENSG00000178445	4313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCSP_HUMAN	GLDC	HGNC	.	.	UPI0000684276	SNV	GLDC,synonymous_variant,p.%3D,ENST00000321612,;GLDC,non_coding_transcript_exon_variant,,ENST00000463305,;	1576	63	43	SUCCESS
ZFAND5	7763	.	GRCh37	9	74970914	74970914	+	synonymous_variant	Silent	SNP	T	T	C	rs769951584	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	36	239	0	ENST00000237937.3:c.597A>G	p.Arg199=	p.R199=	ENST00000237937	NM_006007.3	199	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS6642.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTCTGAT	NONE	.	.	hmmpanther:PTHR10634:SF24,hmmpanther:PTHR10634,Gene3D:4.10.1110.10,Superfamily_domains:SSF118310	.	.	ENSP00000237937	.	6/6	.	.	.	.	.	.	.	.	rs769951584	6/6	PASS	ENST00000237937	Transcript	.	.	ENSG00000107372	13008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFAN5_HUMAN	ZFAND5	HGNC	.	.	UPI000013C322	SNV	ZFAND5,synonymous_variant,p.%3D,ENST00000376962,;ZFAND5,synonymous_variant,p.%3D,ENST00000343431,;ZFAND5,synonymous_variant,p.%3D,ENST00000237937,;ZFAND5,synonymous_variant,p.%3D,ENST00000376960,;ZFAND5,downstream_gene_variant,,ENST00000376956,;ZFAND5,non_coding_transcript_exon_variant,,ENST00000488164,;ZFAND5,non_coding_transcript_exon_variant,,ENST00000471197,;ZFAND5,downstream_gene_variant,,ENST00000487330,;	1155	239	136	SUCCESS
HKDC1	80201	.	GRCh37	10	71008284	71008284	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	48	100	0	ENST00000354624.5:c.1370C>T	p.Thr457Ile	p.T457I	ENST00000354624	NM_025130.3	457	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7288.1	1370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACCGCGG	NONE	.	.	Superfamily_domains:SSF53067,Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12	.	.	ENSP00000346643	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000354624	Transcript	.	.	ENSG00000156510	23302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	HKDC1_HUMAN	HKDC1	HGNC	.	.	UPI00003666D2	SNV	HKDC1,missense_variant,p.Thr457Ile,ENST00000354624,;HKDC1,missense_variant,p.Thr457Ile,ENST00000395086,;HKDC1,non_coding_transcript_exon_variant,,ENST00000488706,;	1503	100	107	SUCCESS
MRVI1	0	.	GRCh37	11	10602112	10602112	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	74	0	ENST00000423302.2:c.2385C>T	p.Thr795=	p.T795=	ENST00000423302	NM_130385.3	795	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS55746.1	2385	MUTECT|MUSE	.	TCTTTGGTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15352:SF2,hmmpanther:PTHR15352,Pfam_domain:PF05781	.	.	ENSP00000412130	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000423302	Transcript	.	.	ENSG00000072952	7237	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRVI1_HUMAN	MRVI1	HGNC	H0YI08_HUMAN,E9PRG4_HUMAN	.	UPI0001F78343	SNV	MRVI1,synonymous_variant,p.%3D,ENST00000436272,;MRVI1,synonymous_variant,p.%3D,ENST00000424001,;MRVI1,synonymous_variant,p.%3D,ENST00000545852,;MRVI1,synonymous_variant,p.%3D,ENST00000547195,;MRVI1,synonymous_variant,p.%3D,ENST00000423302,;MRVI1,synonymous_variant,p.%3D,ENST00000558540,;MRVI1,synonymous_variant,p.%3D,ENST00000534266,;MRVI1,synonymous_variant,p.%3D,ENST00000531107,;MRVI1,synonymous_variant,p.%3D,ENST00000527509,;MRVI1,synonymous_variant,p.%3D,ENST00000552103,;MRVI1,synonymous_variant,p.%3D,ENST00000541483,;MRVI1,synonymous_variant,p.%3D,ENST00000421747,;MRVI1-AS1,intron_variant,,ENST00000529979,;MRVI1-AS1,intron_variant,,ENST00000529829,;LYVE1,intron_variant,,ENST00000531706,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;MRVI1,downstream_gene_variant,,ENST00000526414,;	2535	74	52	SUCCESS
RNF214	257160	.	GRCh37	11	117150670	117150670	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377377564	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	70	0	ENST00000300650.4:c.1006G>A	p.Glu336Lys	p.E336K	ENST00000300650	NM_207343.3	336	Gaa/Aaa	0	A:0	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS41720.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGAAATA	NONE	byCluster|by1000G	.	hmmpanther:PTHR15727	A:0	A:0.0002	ENSP00000431643	A:0	7/15	.	.	.	.	.	.	.	.	rs377377564	7/15	PASS	ENST00000531452	Transcript	.	A:0.0002	ENSG00000167257	25335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	A:0.001	tolerated(0.22)	.	RN214_HUMAN	RNF214	HGNC	E9PRE9_HUMAN	.	UPI00001D7749	SNV	RNF214,missense_variant,p.Glu336Lys,ENST00000531452,;RNF214,missense_variant,p.Glu336Lys,ENST00000300650,;RNF214,missense_variant,p.Glu181Lys,ENST00000531287,;RNF214,missense_variant,p.Glu181Lys,ENST00000530849,;RNF214,upstream_gene_variant,,ENST00000524917,;RNF214,upstream_gene_variant,,ENST00000534709,;	1052	70	55	SUCCESS
ABCC8	6833	.	GRCh37	11	17428453	17428453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	114	0	ENST00000389817.3:c.3144G>T	p.Arg1048Ser	p.R1048S	ENST00000389817		1048	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS31437.1	3144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCCTGGC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123,Prints_domain:PR01093	.	.	ENSP00000374467	.	25/39	.	.	.	.	.	.	.	.	.	25/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.76)	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Arg1048Ser,ENST00000389817,;ABCC8,missense_variant,p.Arg1049Ser,ENST00000302539,;ABCC8,upstream_gene_variant,,ENST00000528374,;ABCC8,3_prime_UTR_variant,,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000524561,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526921,;ABCC8,non_coding_transcript_exon_variant,,ENST00000529967,;ABCC8,downstream_gene_variant,,ENST00000531911,;ABCC8,upstream_gene_variant,,ENST00000531137,;ABCC8,downstream_gene_variant,,ENST00000530147,;ABCC8,upstream_gene_variant,,ENST00000531891,;	3213	114	73	SUCCESS
FOLH1	2346	.	GRCh37	11	49229931	49229931	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749825495	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	40	0	ENST00000256999.2:c.31G>C	p.Ala11Pro	p.A11P	ENST00000256999	NM_004476.1	11	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7946.1	31	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACAGCCGAGT	NONE	.	.	hmmpanther:PTHR10404:SF36,hmmpanther:PTHR10404	.	.	ENSP00000256999	.	1/19	.	.	.	.	.	.	.	.	rs749825495	1/19	PASS	ENST00000256999	Transcript	.	.	ENSG00000086205	3788	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.177)	.	deleterious_low_confidence(0.05)	.	FOLH1_HUMAN	FOLH1	HGNC	Q7Z5D2_HUMAN,Q2VPJ0_HUMAN,E9PMK6_HUMAN,E9PKM3_HUMAN	.	UPI0000000A01	SNV	FOLH1,missense_variant,p.Ala11Pro,ENST00000256999,;FOLH1,missense_variant,p.Ala11Pro,ENST00000356696,;FOLH1,5_prime_UTR_variant,,ENST00000340334,;FOLH1,5_prime_UTR_variant,,ENST00000343844,;FOLH1,upstream_gene_variant,,ENST00000533034,;FOLH1,upstream_gene_variant,,ENST00000529117,;FOLH1,missense_variant,p.Ala11Pro,ENST00000525826,;FOLH1,missense_variant,p.Ala11Pro,ENST00000533510,;FOLH1,missense_variant,p.Ala11Pro,ENST00000529648,;FOLH1,upstream_gene_variant,,ENST00000529646,;	292	40	42	SUCCESS
DCHS1	8642	.	GRCh37	11	6648374	6648374	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1050619250	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	25	132	0	ENST00000299441.3:c.5896C>T	p.Arg1966Cys	p.R1966C	ENST00000299441	NM_003737.2	1966	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS7771.1	5896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGCAGAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	14/21	.	.	.	.	.	.	.	.	COSM2041001	14/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.731)	.	tolerated(0.11)	1	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Arg1966Cys,ENST00000299441,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;	6308	132	111	SUCCESS
HNF1A	6927	.	GRCh37	12	121431424	121431424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	119	0	ENST00000257555.6:c.628T>A	p.Ser210Thr	p.S210T	ENST00000257555		210	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS9209.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATCCCAG	BUFFER|p.W206L|c.617G>T|10,BUFFER|p.W206C|c.618G>T|7,BUFFER|p.Q211P|c.632A>C|3	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000257555	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Ser210Thr,ENST00000541395,;HNF1A,missense_variant,p.Ser210Thr,ENST00000400024,;HNF1A,missense_variant,p.Ser210Thr,ENST00000402929,;HNF1A,missense_variant,p.Ser93Thr,ENST00000543427,;HNF1A,missense_variant,p.Ser210Thr,ENST00000544413,;HNF1A,missense_variant,p.Ser210Thr,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Ser258Thr,ENST00000560968,;HNF1A,missense_variant,p.Ser210Thr,ENST00000541924,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000538646,;HNF1A,upstream_gene_variant,,ENST00000543255,;	854	119	102	SUCCESS
FAM186A	121006	.	GRCh37	12	50746361	50746361	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1458460713	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	212	0	ENST00000327337.5:c.4254A>C	p.Glu1418Asp	p.E1418D	ENST00000327337	NM_001145475.1	1418	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS44878.1	4254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATTCCTG	NONE	.	.	.	.	.	ENSP00000329995	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000327337	Transcript	.	.	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.51)	.	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Glu1418Asp,ENST00000327337,;FAM186A,missense_variant,p.Glu1418Asp,ENST00000543111,;FAM186A,upstream_gene_variant,,ENST00000543096,;	4254	213	152	SUCCESS
FAM186A	121006	.	GRCh37	12	50746362	50746362	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs567893686	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	56	211	0	ENST00000327337.5:c.4253A>C	p.Glu1418Ala	p.E1418A	ENST00000327337	NM_001145475.1	1418	gAa/gCa	0	.	G:0.0015	.	G:0	.	G	E/A	protein_coding	YES	CCDS44878.1	4253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATTCCTGA	NONE	byFrequency|by1000G	.	.	G:0.001	.	ENSP00000329995	G:0.001	4/8	.	.	.	.	.	.	.	.	rs567893686	4/8	PASS	ENST00000327337	Transcript	.	G:0.0008	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	G:0	tolerated(1)	.	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Glu1418Ala,ENST00000327337,;FAM186A,missense_variant,p.Glu1418Ala,ENST00000543111,;FAM186A,upstream_gene_variant,,ENST00000543096,;	4253	211	151	SUCCESS
FAM186A	121006	.	GRCh37	12	50746424	50746424	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs546296194	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	160	1	ENST00000327337.5:c.4191G>C	p.Met1397Ile	p.M1397I	ENST00000327337	NM_001145475.1	1397	atG/atC	0	.	T:0	.	T:0	.	G	M/I	protein_coding	YES	CCDS44878.1	4191	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCATCCC	NONE	byFrequency|by1000G	.	.	T:0.003	.	ENSP00000329995	T:0	4/8	.	.	.	.	.	.	.	.	rs546296194,COSM1628651	4/8	PASS	ENST00000327337	Transcript	.	T:0.0006	ENSG00000185958	26980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0)	T:0	tolerated(1)	0,1	F186A_HUMAN	FAM186A	HGNC	.	.	UPI00001D7978	SNV	FAM186A,missense_variant,p.Met1397Ile,ENST00000327337,;FAM186A,missense_variant,p.Met1397Ile,ENST00000543111,;FAM186A,upstream_gene_variant,,ENST00000543096,;	4191	161	112	SUCCESS
LHFP	0	.	GRCh37	13	40175212	40175212	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1440185312	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	22	163	0	ENST00000379589.3:c.142C>T	p.Arg48Trp	p.R48W	ENST00000379589	NM_005780.2	48	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9369.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGGAAGG	NONE	.	.	hmmpanther:PTHR12489:SF12,hmmpanther:PTHR12489,Pfam_domain:PF10242	.	.	ENSP00000368908	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000379589	Transcript	.	.	ENSG00000183722	6586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LHFP_HUMAN	LHFP	HGNC	.	.	UPI000006D140	SNV	LHFP,missense_variant,p.Arg48Trp,ENST00000379589,;LHFP,downstream_gene_variant,,ENST00000495922,;	605	163	124	SUCCESS
YPEL3	83719	.	GRCh37	16	30106026	30106026	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	53	0	ENST00000398838.4:c.270+84T>C		p.*90*	ENST00000398838	NM_001145524.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42147.1	.	MUTECT|MUSE	.	CTGAAAGGCTA	NONE	.	.	.	.	.	ENSP00000381821	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398841	Transcript	.	.	ENSG00000090238	18327	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YPEL3_HUMAN	YPEL3	HGNC	H3BRF0_HUMAN,H3BME7_HUMAN	.	UPI000059D35D	SNV	YPEL3,3_prime_UTR_variant,,ENST00000562641,;YPEL3,intron_variant,,ENST00000565110,;YPEL3,intron_variant,,ENST00000398838,;YPEL3,intron_variant,,ENST00000566595,;YPEL3,intron_variant,,ENST00000566134,;YPEL3,intron_variant,,ENST00000398841,;YPEL3,intron_variant,,ENST00000563788,;TBX6,upstream_gene_variant,,ENST00000395224,;TBX6,upstream_gene_variant,,ENST00000279386,;TBX6,upstream_gene_variant,,ENST00000553607,;RP11-455F5.3,upstream_gene_variant,,ENST00000515455,;YPEL3,intron_variant,,ENST00000568674,;YPEL3,intron_variant,,ENST00000565479,;YPEL3,non_coding_transcript_exon_variant,,ENST00000568681,;YPEL3,intron_variant,,ENST00000570099,;TBX6,upstream_gene_variant,,ENST00000567664,;YPEL3,downstream_gene_variant,,ENST00000566401,;	.	53	45	SUCCESS
CCDC64B	0	.	GRCh37	16	3085397	3085397	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758906156	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	34	94	0	ENST00000389347.4:c.101G>A	p.Arg34Gln	p.R34Q	ENST00000389347	NM_001103175.1	34	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45393.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCCGCCGC	NONE	byFrequency	.	hmmpanther:PTHR32123,hmmpanther:PTHR32123:SF11	.	.	ENSP00000459043	.	2/10	.	.	.	.	.	.	.	.	rs758906156	2/10	PASS	ENST00000572449	Transcript	.	.	ENSG00000162069	33584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.24)	.	BICR2_HUMAN	CCDC64B	HGNC	.	.	UPI00001D78D6	SNV	CCDC64B,missense_variant,p.Arg34Gln,ENST00000572449,;CCDC64B,missense_variant,p.Arg34Gln,ENST00000389347,;CCDC64B,upstream_gene_variant,,ENST00000573514,;RP11-473M20.5,non_coding_transcript_exon_variant,,ENST00000382225,;CCDC64B,non_coding_transcript_exon_variant,,ENST00000576826,;CCDC64B,upstream_gene_variant,,ENST00000572240,;	164	94	79	SUCCESS
CTCF	10664	.	GRCh37	16	67660509	67660509	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1259626314	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	120	0	ENST00000264010.4:c.1409G>A	p.Arg470His	p.R470H	ENST00000264010	NM_006565.3	470	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10841.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCGTTACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264010	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000264010	Transcript	.	.	ENSG00000102974	13723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	tolerated(0.07)	.	CTCF_HUMAN	CTCF	HGNC	.	.	UPI0000000DDE	SNV	CTCF,missense_variant,p.Arg142His,ENST00000401394,;CTCF,missense_variant,p.Arg470His,ENST00000264010,;	1853	120	87	SUCCESS
YWHAE	7531	.	GRCh37	17	1265253	1265253	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs772908861	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	86	0	ENST00000264335.8:c.314A>G	p.Asp105Gly	p.D105G	ENST00000264335	NM_006761.4	105	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS11001.1	314	MUTECT|MUSE	.	GTTTGTCCAGT	NONE	.	.	Prints_domain:PR00305,Superfamily_domains:SSF48445,PIRSF_domain:PIRSF000868,SMART_domains:SM00101,Gene3D:3iquA00,Pfam_domain:PF00244,hmmpanther:PTHR18860	.	.	ENSP00000264335	.	3/6	.	.	.	.	.	.	.	.	rs772908861	3/6	PASS	ENST00000264335	Transcript	.	.	ENSG00000108953	12851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.688)	.	deleterious_low_confidence(0.01)	.	1433E_HUMAN	YWHAE	HGNC	B7ZA86_HUMAN	.	UPI0000021A46	SNV	YWHAE,missense_variant,p.Asp105Gly,ENST00000264335,;YWHAE,missense_variant,p.Asp83Gly,ENST00000571732,;YWHAE,intron_variant,,ENST00000575977,;YWHAE,intron_variant,,ENST00000573026,;YWHAE,upstream_gene_variant,,ENST00000496706,;YWHAE,missense_variant,p.Asp84Gly,ENST00000466227,;YWHAE,non_coding_transcript_exon_variant,,ENST00000486241,;YWHAE,non_coding_transcript_exon_variant,,ENST00000469398,;YWHAE,intron_variant,,ENST00000573196,;YWHAE,downstream_gene_variant,,ENST00000489287,;	582	86	66	SUCCESS
LIG3	3980	.	GRCh37	17	33310396	33310396	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	123	0	ENST00000378526.4:c.372C>T	p.Pro124=	p.P124=	ENST00000378526	NM_013975.3	124	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11284.2	372	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCAATCC	NONE	.	.	PROSITE_profiles:PS50064,hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,PROSITE_patterns:PS00347,Pfam_domain:PF00645,Gene3D:1v9xA00,Superfamily_domains:SSF57716	.	.	ENSP00000367787	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000378526	Transcript	.	.	ENSG00000005156	6600	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DNLI3_HUMAN	LIG3	HGNC	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN	.	UPI0000350B71	SNV	LIG3,synonymous_variant,p.%3D,ENST00000592690,;LIG3,synonymous_variant,p.%3D,ENST00000378526,;LIG3,synonymous_variant,p.%3D,ENST00000262327,;LIG3,synonymous_variant,p.%3D,ENST00000585941,;LIG3,intron_variant,,ENST00000585740,;CCT6B,upstream_gene_variant,,ENST00000585073,;LIG3,intron_variant,,ENST00000586407,;LIG3,non_coding_transcript_exon_variant,,ENST00000590181,;LIG3,upstream_gene_variant,,ENST00000586435,;LIG3,upstream_gene_variant,,ENST00000588109,;	505	124	73	SUCCESS
EME1	146956	.	GRCh37	17	48452910	48452910	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	51	163	1	ENST00000338165.4:c.341A>G	p.Asp114Gly	p.D114G	ENST00000338165	NM_152463.2	114	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54141.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGACTCTA	NONE	.	.	hmmpanther:PTHR21077:SF3,hmmpanther:PTHR21077	.	.	ENSP00000376952	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000393271	Transcript	.	.	ENSG00000154920	24965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	tolerated(0.14)	.	EME1_HUMAN	EME1	HGNC	D6RIT8_HUMAN	.	UPI00001AEAC6	SNV	EME1,missense_variant,p.Asp114Gly,ENST00000393271,;EME1,missense_variant,p.Asp114Gly,ENST00000338165,;EME1,missense_variant,p.Asp114Gly,ENST00000511648,;EME1,intron_variant,,ENST00000511519,;LRRC59,intron_variant,,ENST00000503118,;MRPL27,upstream_gene_variant,,ENST00000225969,;MRPL27,upstream_gene_variant,,ENST00000508200,;MRPL27,upstream_gene_variant,,ENST00000507088,;MRPL27,upstream_gene_variant,,ENST00000511860,;MRPL27,upstream_gene_variant,,ENST00000503633,;MRPL27,upstream_gene_variant,,ENST00000442592,;EME1,upstream_gene_variant,,ENST00000510246,;EME1,intron_variant,,ENST00000510007,;EME1,intron_variant,,ENST00000511711,;MRPL27,upstream_gene_variant,,ENST00000514928,;EME1,upstream_gene_variant,,ENST00000514211,;EME1,upstream_gene_variant,,ENST00000507616,;EME1,upstream_gene_variant,,ENST00000513077,;	423	164	113	SUCCESS
FTSJ3	117246	.	GRCh37	17	61898837	61898837	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	67	0	ENST00000427159.2:c.1763A>G	p.Gln588Arg	p.Q588R	ENST00000427159	NM_017647.3	588	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS11644.1	1763	RADIA|MUSE|VARSCANS	.	CATCTTGGTAC	NONE	.	.	HAMAP:MF_03163,hmmpanther:PTHR10920,hmmpanther:PTHR10920:SF13	.	.	ENSP00000396673	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000427159	Transcript	.	.	ENSG00000108592	17136	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.52)	.	SPB1_HUMAN	FTSJ3	HGNC	J3QSE2_HUMAN,J3QRS5_HUMAN,J3QKT6_HUMAN,J3KS36_HUMAN	.	UPI000013C87B	SNV	FTSJ3,missense_variant,p.Gln588Arg,ENST00000427159,;DDX42,downstream_gene_variant,,ENST00000389924,;DDX42,downstream_gene_variant,,ENST00000578681,;FTSJ3,downstream_gene_variant,,ENST00000580272,;DDX42,downstream_gene_variant,,ENST00000359353,;DDX42,downstream_gene_variant,,ENST00000583590,;FTSJ3,downstream_gene_variant,,ENST00000581209,;DDX42,downstream_gene_variant,,ENST00000457800,;DDX42,downstream_gene_variant,,ENST00000582985,;FTSJ3,3_prime_UTR_variant,,ENST00000579831,;FTSJ3,non_coding_transcript_exon_variant,,ENST00000583202,;FTSJ3,non_coding_transcript_exon_variant,,ENST00000583901,;FTSJ3,downstream_gene_variant,,ENST00000580376,;DDX42,downstream_gene_variant,,ENST00000579539,;FTSJ3,downstream_gene_variant,,ENST00000579569,;FTSJ3,downstream_gene_variant,,ENST00000582476,;FTSJ3,downstream_gene_variant,,ENST00000577263,;FTSJ3,downstream_gene_variant,,ENST00000580129,;DDX42,downstream_gene_variant,,ENST00000578593,;FTSJ3,downstream_gene_variant,,ENST00000580290,;DDX42,downstream_gene_variant,,ENST00000584010,;FTSJ3,downstream_gene_variant,,ENST00000584193,;DDX42,downstream_gene_variant,,ENST00000581767,;	2409	67	75	SUCCESS
ITGB4	3691	.	GRCh37	17	73723530	73723530	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs569235037	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	31	139	0	ENST00000200181.3:c.208G>A	p.Ala70Thr	p.A70T	ENST00000200181	NM_000213.3	70	Gcg/Acg	0	.	A:0	.	A:0.0014	.	A	A/T	protein_coding	YES	CCDS11727.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGCGGGC	NONE	by1000G	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002513,SMART_domains:SM00187,SMART_domains:SM00423,Superfamily_domains:SSF103575,Prints_domain:PR01186	A:0	.	ENSP00000200181	A:0	4/40	.	.	.	.	.	.	.	.	rs569235037	4/40	PASS	ENST00000200181	Transcript	.	A:0.0002	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.415)	A:0	tolerated(0.55)	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Ala70Thr,ENST00000579662,;ITGB4,missense_variant,p.Ala70Thr,ENST00000450894,;ITGB4,missense_variant,p.Ala70Thr,ENST00000339591,;ITGB4,missense_variant,p.Ala70Thr,ENST00000449880,;ITGB4,missense_variant,p.Ala70Thr,ENST00000200181,;ITGB4,upstream_gene_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,upstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;	395	139	119	SUCCESS
WDR45B	56270	.	GRCh37	17	80576976	80576976	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	102	0	ENST00000392325.4:c.647C>G	p.Ser216Ter	p.S216*	ENST00000392325	NM_019613.3	216	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS11815.2	647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGAAGTA	NONE	.	.	hmmpanther:PTHR11227,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000376139	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000392325	Transcript	.	.	ENSG00000141580	25072	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPI3_HUMAN	WDR45B	HGNC	B4DMI6_HUMAN	.	UPI000020051D	SNV	WDR45B,stop_gained,p.Ser216Ter,ENST00000392325,;WDR45B,non_coding_transcript_exon_variant,,ENST00000571767,;WDR45B,non_coding_transcript_exon_variant,,ENST00000571835,;FOXK2,intron_variant,,ENST00000574694,;WDR45B,splice_region_variant,,ENST00000573616,;WDR45B,splice_region_variant,,ENST00000573656,;WDR45B,splice_region_variant,,ENST00000572583,;WDR45B,3_prime_UTR_variant,,ENST00000571817,;WDR45B,upstream_gene_variant,,ENST00000576517,;WDR45B,upstream_gene_variant,,ENST00000577774,;	842	102	72	SUCCESS
CAPNS1	826	.	GRCh37	19	36637097	36637097	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	79	0	ENST00000246533.3:c.605-1G>C		p.X202_splice	ENST00000246533	NM_001749.2	202		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12489.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGGGTTC	NONE	.	.	.	.	.	ENSP00000246533	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000246533	Transcript	.	.	ENSG00000126247	1481	.	.	HIGH	8/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CPNS1_HUMAN	CAPNS1	HGNC	U3KPR7_HUMAN,K7ES78_HUMAN,K7EM73_HUMAN	.	UPI0000000E07	SNV	CAPNS1,splice_acceptor_variant,,ENST00000588815,;CAPNS1,splice_acceptor_variant,,ENST00000587718,;CAPNS1,splice_acceptor_variant,,ENST00000588780,;CAPNS1,splice_acceptor_variant,,ENST00000246533,;CAPNS1,splice_acceptor_variant,,ENST00000592354,;CAPNS1,splice_acceptor_variant,,ENST00000590874,;CAPNS1,splice_acceptor_variant,,ENST00000586963,;CAPNS1,splice_acceptor_variant,,ENST00000589146,;CAPNS1,intron_variant,,ENST00000590211,;CAPNS1,intron_variant,,ENST00000586851,;CAPNS1,downstream_gene_variant,,ENST00000592483,;CAPNS1,downstream_gene_variant,,ENST00000591041,;COX7A1,downstream_gene_variant,,ENST00000589154,;COX7A1,downstream_gene_variant,,ENST00000292907,;COX7A1,downstream_gene_variant,,ENST00000437291,;AD001527.7,intron_variant,,ENST00000604228,;CAPNS1,splice_acceptor_variant,,ENST00000589162,;CAPNS1,splice_acceptor_variant,,ENST00000590049,;COX7A1,downstream_gene_variant,,ENST00000481297,;	.	79	53	SUCCESS
MIR520D	574482	.	GRCh37	19	54223426	54223426	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	72	0	ENST00000385002.1:n.77A>G		p.*26*	ENST00000385002				0	.	.	.	.	.	G	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTACGGTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385002	Transcript	.	.	ENSG00000207735	32114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MIR520D	HGNC	.	.	.	SNV	MIR520D,non_coding_transcript_exon_variant,,ENST00000385002,;MIR521-2,downstream_gene_variant,,ENST00000384818,;MIR517B,upstream_gene_variant,,ENST00000385102,;RNU6-803P,upstream_gene_variant,,ENST00000516034,;MIR520G,upstream_gene_variant,,ENST00000385064,;	77	72	55	SUCCESS
ZNF583	147949	.	GRCh37	19	56934521	56934521	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	36	0	ENST00000291598.7:c.494T>G	p.Phe165Cys	p.F165C	ENST00000291598	NM_001159860.1	165	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS12943.1	494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATTCCACC	NONE	.	.	hmmpanther:PTHR24387:SF211,hmmpanther:PTHR24387	.	.	ENSP00000388502	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000333201	Transcript	.	.	ENSG00000198440	26427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.04)	.	ZN583_HUMAN	ZNF583	HGNC	I3L0C4_HUMAN,F5GZQ5_HUMAN	.	UPI000013E700	SNV	ZNF583,missense_variant,p.Phe165Cys,ENST00000333201,;ZNF583,missense_variant,p.Phe165Cys,ENST00000291598,;ZNF583,downstream_gene_variant,,ENST00000391778,;ZNF583,downstream_gene_variant,,ENST00000537943,;ZNF583,non_coding_transcript_exon_variant,,ENST00000585612,;	704	36	39	SUCCESS
CD1B	910	.	GRCh37	1	158299817	158299817	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	79	221	0	ENST00000368168.3:c.432C>A	p.Val144=	p.V144=	ENST00000368168	NM_001764.2	144	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1176.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGACACT	NONE	.	.	hmmpanther:PTHR16675:SF130,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000357150	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,synonymous_variant,p.%3D,ENST00000368168,;CD1B,synonymous_variant,p.%3D,ENST00000451207,;	540	221	245	SUCCESS
DHX9	1660	.	GRCh37	1	182848473	182848473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	26	133	0	ENST00000367549.3:c.2440G>A	p.Gly814Ser	p.G814S	ENST00000367549	NM_001357.4	814	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS41444.1	2440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTGGCCAA	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Superfamily_domains:SSF52540	.	.	ENSP00000356520	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	deleterious(0.04)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Gly814Ser,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000474446,;DHX9,upstream_gene_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000490519,;	2550	133	136	SUCCESS
PTPN14	5784	.	GRCh37	1	214542934	214542934	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs61749333	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	264	15	275	0	ENST00000366956.5:c.3137C>A	p.Thr1046Lys	p.T1046K	ENST00000366956	NM_005401.4	1046	aCg/aAg	0	C:0.0007	C:0	.	C:0.0014	.	T	T/K	protein_coding	YES	CCDS1514.1	3137	MUTECT|MUSE	.	AATCCGTTCGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000934,SMART_domains:SM00194,Gene3D:3.90.190.10,Pfam_domain:PF00102,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PROSITE_profiles:PS50055	C:0	C:0.0017	ENSP00000355923	C:0.003	17/19	.	.	.	.	.	.	.	.	rs61749333,COSM390010	17/19	PASS	ENST00000366956	Transcript	.	C:0.0014	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.994)	C:0.0031	deleterious(0)	0,1	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Thr1046Lys,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;PTPN14,downstream_gene_variant,,ENST00000473261,;	3332	275	280	SUCCESS
ARID1A	8289	.	GRCh37	1	27099008	27099008	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	71	192	0	ENST00000324856.7:c.3424C>T	p.Gln1142Ter	p.Q1142*	ENST00000324856	NM_006015.4	1142	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS285.1	3424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGCAGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	13/20	.	.	.	.	.	.	.	.	COSM251400	13/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,stop_gained,p.Gln1142Ter,ENST00000457599,;ARID1A,stop_gained,p.Gln1142Ter,ENST00000324856,;ARID1A,stop_gained,p.Gln759Ter,ENST00000374152,;ARID1A,stop_gained,p.Gln40Ter,ENST00000430799,;ARID1A,upstream_gene_variant,,ENST00000540690,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,downstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000532781,;	3795	192	178	SUCCESS
WFDC5	149708	.	GRCh37	20	43743715	43743715	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	40	0	ENST00000307971.4:c.10C>T	p.Gln4Ter	p.Q4*	ENST00000307971		4	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS33475.1	10	RADIA|MUSE|VARSCANS	.	GCTCTGGGTCC	NONE	.	.	hmmpanther:PTHR19441:SF25,hmmpanther:PTHR19441,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000361875	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000372789	Transcript	.	.	ENSG00000175121	20477	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WFDC5_HUMAN	WFDC5	HGNC	.	.	UPI0000001C7C	SNV	WFDC5,stop_gained,p.Gln4Ter,ENST00000372789,;WFDC5,stop_gained,p.Gln4Ter,ENST00000307971,;	99	40	33	SUCCESS
GABPA	2551	.	GRCh37	21	27141414	27141414	+	synonymous_variant	Silent	SNP	G	G	A	rs563533466	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	79	289	0	ENST00000354828.3:c.1236G>A	p.Ala412=	p.A412=	ENST00000354828	NM_001197297.1	412	gcG/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS13575.1	1236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGGAGTT	NONE	by1000G	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF28,Gene3D:1.10.10.10,PIRSF_domain:PIRSF001703,Superfamily_domains:SSF46785	A:0	.	ENSP00000346886	A:0.001	10/10	.	.	.	.	.	.	.	.	rs563533466	10/10	PASS	ENST00000354828	Transcript	.	A:0.0002	ENSG00000154727	4071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GABPA_HUMAN	GABPA	HGNC	A8IE48_HUMAN	.	UPI000012AFB2	SNV	GABPA,synonymous_variant,p.%3D,ENST00000400075,;GABPA,synonymous_variant,p.%3D,ENST00000354828,;	1763	289	196	SUCCESS
PPARA	5465	.	GRCh37	22	46611213	46611213	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	108	0	ENST00000262735.5:c.352G>T	p.Ala118Ser	p.A118S	ENST00000262735	NM_005036.4	118	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33669.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGCGTGT	NONE	.	.	Prints_domain:PR00047,Prints_domain:PR00047,Superfamily_domains:SSF57716,SMART_domains:SM00399,Pfam_domain:PF00105,Gene3D:3.30.50.10,hmmpanther:PTHR24082,PROSITE_patterns:PS00031,hmmpanther:PTHR24082:SF197,PROSITE_profiles:PS51030	.	.	ENSP00000379322	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000396000	Transcript	.	.	ENSG00000186951	9232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.25)	.	PPARA_HUMAN	PPARA	HGNC	F1D8S4_HUMAN,B0QYX2_HUMAN	.	UPI000000D8E0	SNV	PPARA,missense_variant,p.Ala118Ser,ENST00000262735,;PPARA,missense_variant,p.Ala118Ser,ENST00000420804,;PPARA,missense_variant,p.Ala118Ser,ENST00000396000,;PPARA,missense_variant,p.Ala118Ser,ENST00000434345,;PPARA,missense_variant,p.Ala118Ser,ENST00000402126,;PPARA,missense_variant,p.Ala118Ser,ENST00000407236,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,;	617	108	75	SUCCESS
STEAP3	55240	.	GRCh37	2	120012401	120012401	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	32	149	0	ENST00000393106.2:c.1162del	p.Trp388GlyfsTer18	p.W388Gfs*18	ENST00000393106	NM_018234.2	388	Tgg/gg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS42738.1	1192	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCAACTGGAGG	NONE	.	.	hmmpanther:PTHR14239:SF7,hmmpanther:PTHR14239,Pfam_domain:PF01794	.	.	ENSP00000376822	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000393110	Transcript	.	.	ENSG00000115107	24592	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STEA3_HUMAN	STEAP3	HGNC	.	.	UPI0000207E04	deletion	STEAP3,frameshift_variant,p.Trp388GlyfsTer44,ENST00000450943,;STEAP3,frameshift_variant,p.Trp388GlyfsTer44,ENST00000409811,;STEAP3,frameshift_variant,p.Trp388GlyfsTer18,ENST00000354888,;STEAP3,frameshift_variant,p.Trp388GlyfsTer18,ENST00000393106,;STEAP3,frameshift_variant,p.Trp388GlyfsTer18,ENST00000393107,;STEAP3,frameshift_variant,p.Trp388GlyfsTer18,ENST00000393108,;STEAP3,frameshift_variant,p.Trp388GlyfsTer18,ENST00000425223,;STEAP3,frameshift_variant,p.Trp398GlyfsTer18,ENST00000393110,;	1643	149	111	SUCCESS
CAPN14	440854	.	GRCh37	2	31414909	31414909	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	151	0	ENST00000403897.3:c.1170C>A	p.Gly390=	p.G390=	ENST00000403897	NM_001145122.1	390	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46254.1	1170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGCCCTC	NONE	.	.	hmmpanther:PTHR10183:SF285,hmmpanther:PTHR10183,Gene3D:2.60.120.380,Pfam_domain:PF01067,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000385247	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000403897	Transcript	.	.	ENSG00000214711	16664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN14_HUMAN	CAPN14	HGNC	D6W573_HUMAN	.	UPI000173A463	SNV	CAPN14,synonymous_variant,p.%3D,ENST00000444918,;CAPN14,synonymous_variant,p.%3D,ENST00000403897,;CAPN14,3_prime_UTR_variant,,ENST00000398824,;	1312	151	101	SUCCESS
CCDC88A	55704	.	GRCh37	2	55589549	55589549	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	39	289	1	ENST00000436346.1:c.522A>G	p.Gln174=	p.Q174=	ENST00000436346	NM_001135597.1	174	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS46288.1	522	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCATTGCAG	NONE	.	.	hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30,Pfam_domain:PF05622	.	.	ENSP00000338728	.	7/33	.	.	.	.	.	.	.	.	.	7/33	PASS	ENST00000336838	Transcript	.	.	ENSG00000115355	25523	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRDN_HUMAN	CCDC88A	HGNC	C9J225_HUMAN,B4DSN0_HUMAN	.	UPI00005B7220	SNV	CCDC88A,synonymous_variant,p.%3D,ENST00000413716,;CCDC88A,synonymous_variant,p.%3D,ENST00000336838,;CCDC88A,synonymous_variant,p.%3D,ENST00000430086,;CCDC88A,synonymous_variant,p.%3D,ENST00000436346,;CCDC88A,synonymous_variant,p.%3D,ENST00000263630,;	1056	290	235	SUCCESS
MAL	4118	.	GRCh37	2	95713853	95713853	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	59	240	0	ENST00000309988.4:c.243G>A	p.Glu81=	p.E81=	ENST00000309988	NM_002371.3	81	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2006.1	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGACTTC	NONE	.	.	PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF12,Pfam_domain:PF01284	.	.	ENSP00000310880	.	2/4	.	.	.	.	.	.	.	.	COSM722891	2/4	PASS	ENST00000309988	Transcript	.	.	ENSG00000172005	6817	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MAL_HUMAN	MAL	HGNC	.	.	UPI000004494A	SNV	MAL,synonymous_variant,p.%3D,ENST00000309988,;MAL,synonymous_variant,p.%3D,ENST00000353004,;MAL,intron_variant,,ENST00000354078,;MAL,intron_variant,,ENST00000349807,;AC103563.9,downstream_gene_variant,,ENST00000442200,;MAL,downstream_gene_variant,,ENST00000489399,;	352	240	164	SUCCESS
HPS3	84343	.	GRCh37	3	148868468	148868468	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	124	0	ENST00000296051.2:c.1245+1G>A		p.X415_splice	ENST00000296051	NM_032383.3	415		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3140.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGTAAGA	NONE	.	.	.	.	.	ENSP00000296051	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296051	Transcript	.	.	ENSG00000163755	15597	.	.	HIGH	6/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPS3_HUMAN	HPS3	HGNC	Q8N3N1_HUMAN	.	UPI000000D989	SNV	HPS3,splice_donor_variant,,ENST00000296051,;HPS3,splice_donor_variant,,ENST00000460120,;HPS3,splice_donor_variant,,ENST00000462030,;HPS3,splice_donor_variant,,ENST00000486530,;	.	124	100	SUCCESS
PCDHA9	9752	.	GRCh37	5	140228652	140228652	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	34	227	0	ENST00000532602.1:c.572C>T	p.Pro191Leu	p.P191L	ENST00000532602	NM_031857.1	191	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54920.1	572	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACCTCTTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000436042	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	tolerated_low_confidence(0.78)	.	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,missense_variant,p.Pro191Leu,ENST00000378122,;PCDHA9,missense_variant,p.Pro191Leu,ENST00000532602,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1605	227	204	SUCCESS
PCDHB12	56124	.	GRCh37	5	140589809	140589809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	6	124	0	ENST00000239450.2:c.1330G>A	p.Val444Ile	p.V444I	ENST00000239450	NM_018932.3	444	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS4254.1	1330	MUTECT|MUSE	.	CCGACGTCAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	tolerated_low_confidence(0.19)	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,missense_variant,p.Val107Ile,ENST00000541609,;PCDHB12,missense_variant,p.Val444Ile,ENST00000239450,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	1519	124	145	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140744161	140744161	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	49	103	0	ENST00000518069.1:c.264C>T	p.Gly88=	p.G88=	ENST00000518069	NM_018918.2	88	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS54925.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGCAGGAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,synonymous_variant,p.%3D,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;	264	103	140	SUCCESS
ARAP3	64411	.	GRCh37	5	141051870	141051870	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	6	133	0	ENST00000239440.4:c.1386-2A>T		p.X462_splice	ENST00000239440	NM_022481.5	462		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4266.1	.	MUTECT|MUSE	.	GAAGCTGAGGG	NONE	.	.	.	.	.	ENSP00000239440	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	HIGH	9/32	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,splice_acceptor_variant,,ENST00000508305,;ARAP3,splice_acceptor_variant,,ENST00000239440,;ARAP3,splice_acceptor_variant,,ENST00000504448,;ARAP3,splice_acceptor_variant,,ENST00000513878,;ARAP3,downstream_gene_variant,,ENST00000524066,;	.	133	132	SUCCESS
NIPBL	25836	.	GRCh37	5	37007558	37007558	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	48	152	0	ENST00000282516.8:c.4221A>C	p.Thr1407=	p.T1407=	ENST00000282516	NM_133433.3	1407	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3920.1	4221	RADIA|MUTECT|MUSE	.	CTTACAGACAC	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	18/47	.	.	.	.	.	.	.	.	.	18/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;	4720	152	111	SUCCESS
NIPBL	25836	.	GRCh37	5	37007562	37007562	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1260002719	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	48	149	0	ENST00000282516.8:c.4225A>G	p.Thr1409Ala	p.T1409A	ENST00000282516	NM_133433.3	1409	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3920.1	4225	RADIA|MUTECT|MUSE	.	CAGACACAACA	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	18/47	.	.	.	.	.	.	.	.	.	18/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,missense_variant,p.Thr1409Ala,ENST00000448238,;NIPBL,missense_variant,p.Thr1409Ala,ENST00000282516,;	4724	149	109	SUCCESS
ELL2	22936	.	GRCh37	5	95224587	95224587	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	117	0	ENST00000237853.4:c.1911G>A	p.Glu637=	p.E637=	ENST00000237853	NM_012081.5	637	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS4080.1	1911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACTCTGC	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288	.	.	ENSP00000237853	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,synonymous_variant,p.%3D,ENST00000431061,;ELL2,synonymous_variant,p.%3D,ENST00000237853,;ELL2,downstream_gene_variant,,ENST00000508757,;	2261	117	72	SUCCESS
SAMD5	389432	.	GRCh37	6	147830139	147830139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	55	202	0	ENST00000367474.1:c.75C>A	p.Asn25Lys	p.N25K	ENST00000367474	NM_001030060.2	25	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS34548.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAACGGCTA	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR12301,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000356444	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367474	Transcript	.	.	ENSG00000203727	21180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SAMD5_HUMAN	SAMD5	HGNC	.	.	UPI000022CCF8	SNV	SAMD5,missense_variant,p.Asn25Lys,ENST00000367474,;SAMD5,upstream_gene_variant,,ENST00000566741,;	77	202	184	SUCCESS
OR2J3	442186	.	GRCh37	6	29080097	29080097	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs751170327	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	120	412	0	ENST00000377169.1:c.430T>G	p.Cys144Gly	p.C144G	ENST00000377169	NM_001005216.3	144	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS43433.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTGCCAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	rs751170327	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Cys144Gly,ENST00000377169,;	430	413	306	SUCCESS
OR12D3	81797	.	GRCh37	6	29342651	29342651	+	synonymous_variant	Silent	SNP	C	C	T	rs755840622	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	84	0	ENST00000396806.3:c.414G>A	p.Val138=	p.V138=	ENST00000396806	NM_030959.2	138	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4658.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACACCTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF193,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000380023	.	1/1	.	.	.	.	.	.	.	.	rs755840622	1/1	PASS	ENST00000396806	Transcript	.	.	ENSG00000112462	13963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O12D3_HUMAN	OR12D3	HGNC	D2XT27_HUMAN	.	UPI000000DCA9	SNV	OR12D3,synonymous_variant,p.%3D,ENST00000396806,;OR5V1,intron_variant,,ENST00000377154,;	418	84	77	SUCCESS
MUC17	140453	.	GRCh37	7	100686943	100686943	+	synonymous_variant	Silent	SNP	G	G	A	rs201108444	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	37	225	0	ENST00000306151.4:c.12246G>A	p.Thr4082=	p.T4082=	ENST00000306151	NM_001040105.1	4082	acG/acA	0	A:0.0011	A:0.0023	.	A:0	.	A	T	protein_coding	YES	CCDS34711.1	12246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGACTGT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	A:0	A:0	ENSP00000302716	A:0	3/13	.	.	.	.	.	.	.	.	rs201108444	3/13	PASS	ENST00000306151	Transcript	.	A:0.0006	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	12310	225	175	SUCCESS
KPNA7	402569	.	GRCh37	7	98792911	98792911	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs183241291	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	57	0	ENST00000327442.6:c.335C>A	p.Ala112Glu	p.A112E	ENST00000327442	NM_001145715.1	112	gCg/gAg	0	.	A:0	.	A:0	.	T	A/E	protein_coding	YES	CCDS47651.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCTTCA	NONE	by1000G	.	hmmpanther:PTHR23316:SF11,hmmpanther:PTHR23316,Pfam_domain:PF00514,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371	A:0.001	.	ENSP00000330878	A:0	4/10	.	.	.	.	.	.	.	.	rs183241291	4/10	PASS	ENST00000327442	Transcript	.	A:0.0002	ENSG00000185467	21839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	A:0	deleterious(0.03)	.	IMA8_HUMAN	KPNA7	HGNC	.	.	UPI00004193B5	SNV	KPNA7,missense_variant,p.Ala112Glu,ENST00000327442,;	375	57	61	SUCCESS
ADAM28	10863	.	GRCh37	8	24170902	24170902	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	9	137	0	ENST00000265769.4:c.385G>T	p.Gly129Cys	p.G129C	ENST00000265769	NM_014265.4	129	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS34865.1	385	MUTECT|MUSE	.	TCAGGGGCTAC	BUFFER|p.F131F|c.393C>T|3	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01562	.	.	ENSP00000265769	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,missense_variant,p.Gly129Cys,ENST00000437154,;ADAM28,missense_variant,p.Gly129Cys,ENST00000265769,;ADAM28,splice_region_variant,,ENST00000397649,;ADAM28,intron_variant,,ENST00000540823,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,missense_variant,p.Gly129Cys,ENST00000520448,;ADAM28,downstream_gene_variant,,ENST00000523379,;ADAM28,downstream_gene_variant,,ENST00000523440,;	495	137	113	SUCCESS
ADAM28	10863	.	GRCh37	8	24170903	24170903	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs1410910068	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	8	133	0	ENST00000265769.4:c.386G>T	p.Gly129Val	p.G129V	ENST00000265769	NM_014265.4	129	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34865.1	386	MUTECT|MUSE|VARSCANS	.	CAGGGGCTACT	BUFFER|p.F131F|c.393C>T|3	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01562	.	.	ENSP00000265769	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,missense_variant,p.Gly129Val,ENST00000437154,;ADAM28,missense_variant,p.Gly129Val,ENST00000265769,;ADAM28,splice_region_variant,,ENST00000397649,;ADAM28,intron_variant,,ENST00000540823,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,missense_variant,p.Gly129Val,ENST00000520448,;ADAM28,downstream_gene_variant,,ENST00000523379,;ADAM28,downstream_gene_variant,,ENST00000523440,;	496	133	109	SUCCESS
CSMD1	64478	.	GRCh37	8	3267015	3267015	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	49	132	0	ENST00000537824.1:c.1674G>A	p.Glu558=	p.E558=	ENST00000537824	NM_033225.5	558	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS55189.1	1674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCTCAAA	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	13/70	.	.	.	.	.	.	.	.	.	13/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;	1674	132	102	SUCCESS
PHPT1	29085	.	GRCh37	9	139744952	139744958	+	intron_variant	Intron	DEL	CAGCAGA	CAGCAGA	-	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	CAGCAGA	CAGCAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	89	0	ENST00000247665.10:c.286-255_286-249del		p.*96*	ENST00000247665	NM_014172.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7009.1	.	INDELOCATOR*|PINDEL	.	AACCACCAGCAGATGAGA	NONE	.	.	.	.	.	ENSP00000247665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000247665	Transcript	.	.	ENSG00000054148	30033	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHP14_HUMAN	PHPT1	HGNC	.	.	UPI0000034027	deletion	PHPT1,splice_acceptor_variant,,ENST00000545326,;PHPT1,splice_acceptor_variant,,ENST00000371661,;PHPT1,intron_variant,,ENST00000247665,;C9orf172,downstream_gene_variant,,ENST00000436881,;MAMDC4,upstream_gene_variant,,ENST00000445819,;MAMDC4,upstream_gene_variant,,ENST00000317446,;PHPT1,splice_acceptor_variant,,ENST00000497413,;PHPT1,splice_acceptor_variant,,ENST00000462205,;PHPT1,non_coding_transcript_exon_variant,,ENST00000492540,;PHPT1,intron_variant,,ENST00000463215,;MAMDC4,upstream_gene_variant,,ENST00000485732,;	.	89	48	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20227476	20227476	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	155	0	ENST00000379565.3:c.173A>T	p.Glu58Val	p.E58V	ENST00000379565	NM_004586.2	58	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS14197.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTTCCTTT	NONE	.	.	hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000606	.	.	ENSP00000368884	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Glu58Val,ENST00000379565,;RPS6KA3,missense_variant,p.Glu30Val,ENST00000438357,;RPS6KA3,missense_variant,p.Glu30Val,ENST00000540702,;RPS6KA3,missense_variant,p.Glu30Val,ENST00000544447,;RPS6KA3,missense_variant,p.Glu29Val,ENST00000379548,;RPS6KA3,missense_variant,p.Glu29Val,ENST00000457145,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000474266,;	381	155	90	SUCCESS
LDB3	11155	.	GRCh37	10	88459081	88459081	+	intron_variant	Intron	SNP	C	C	T	rs121908335	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	65	0	ENST00000361373.4:c.896+6753C>T		p.*299*	ENST00000361373	NM_007078.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53550.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	AATTGCGCAAC	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000401437	.	.	.	.	.	.	.	.	.	.	rs121908335,CM050286	.	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODIFIER	8/13	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,missense_variant,p.Arg383Cys,ENST00000372056,;LDB3,missense_variant,p.Arg268Cys,ENST00000372066,;LDB3,missense_variant,p.Arg315Cys,ENST00000310944,;LDB3,3_prime_UTR_variant,,ENST00000542786,;LDB3,intron_variant,,ENST00000361373,;LDB3,intron_variant,,ENST00000458213,;LDB3,intron_variant,,ENST00000352360,;LDB3,intron_variant,,ENST00000429277,;LDB3,intron_variant,,ENST00000263066,;	.	65	92	SUCCESS
ATAD1	84896	.	GRCh37	10	89550120	89550120	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	76	0	ENST00000308448.7:c.329C>T	p.Pro110Leu	p.P110L	ENST00000308448	NM_032810.2	110	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7386.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATAGGTAAG	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23074:SF73,hmmpanther:PTHR23074	.	.	ENSP00000339017	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000308448	Transcript	.	.	ENSG00000138138	25903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ATAD1_HUMAN	ATAD1	HGNC	.	.	UPI000000B2DE	SNV	ATAD1,missense_variant,p.Pro110Leu,ENST00000541004,;ATAD1,missense_variant,p.Pro110Leu,ENST00000308448,;ATAD1,missense_variant,p.Pro52Leu,ENST00000400215,;ATAD1,missense_variant,p.Pro110Leu,ENST00000328142,;ATAD1,non_coding_transcript_exon_variant,,ENST00000495903,;	708	76	71	SUCCESS
CYP2C18	1562	.	GRCh37	10	96447910	96447910	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs762490017	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	54	211	0	ENST00000285979.6:c.360G>A	p.Trp120Ter	p.W120*	ENST00000285979	NM_000772.2	120	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS7435.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGAAGGA	NONE	.	.	hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000285979	.	3/9	.	.	.	.	.	.	.	.	rs762490017	3/9	PASS	ENST00000285979	Transcript	.	.	ENSG00000108242	2620	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2CI_HUMAN	CYP2C18	HGNC	Q16750_HUMAN	.	UPI000013DE1D	SNV	CYP2C18,stop_gained,p.Trp120Ter,ENST00000339022,;CYP2C18,stop_gained,p.Trp120Ter,ENST00000285979,;CYP2C19,upstream_gene_variant,,ENST00000464755,;	559	211	173	SUCCESS
KRTAP5-1	387264	.	GRCh37	11	1606421	1606421	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	48	161	0	ENST00000382171.2:c.59G>C	p.Gly20Ala	p.G20A	ENST00000382171	NM_001005922.1	20	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS31330.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262	.	.	ENSP00000371606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382171	Transcript	.	.	ENSG00000205869	23596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KRA51_HUMAN	KRTAP5-1	HGNC	.	.	UPI000037605D	SNV	KRTAP5-1,missense_variant,p.Gly20Ala,ENST00000382171,;KRTAP5-AS1,intron_variant,,ENST00000534077,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;	93	161	115	SUCCESS
NAV2	89797	.	GRCh37	11	20066708	20066708	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	72	0	ENST00000396087.3:c.3463C>G	p.Leu1155Val	p.L1155V	ENST00000396087	NM_001244963.1	1155	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS58126.1	3463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCCTGGCC	NONE	.	.	hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	15/41	.	.	.	.	.	.	.	.	.	15/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.234)	.	tolerated(0.99)	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,missense_variant,p.Leu1068Val,ENST00000360655,;NAV2,missense_variant,p.Leu218Val,ENST00000525322,;NAV2,missense_variant,p.Leu218Val,ENST00000533917,;NAV2,missense_variant,p.Leu1084Val,ENST00000527559,;NAV2,missense_variant,p.Leu1132Val,ENST00000349880,;NAV2,missense_variant,p.Leu1155Val,ENST00000396087,;NAV2,missense_variant,p.Leu1132Val,ENST00000396085,;NAV2,missense_variant,p.Leu1086Val,ENST00000540292,;NAV2,missense_variant,p.Leu218Val,ENST00000311043,;NAV2,downstream_gene_variant,,ENST00000530408,;NAV2-AS2,intron_variant,,ENST00000533767,;NAV2,downstream_gene_variant,,ENST00000526675,;NAV2,downstream_gene_variant,,ENST00000534299,;	3562	72	49	SUCCESS
ANO3	63982	.	GRCh37	11	26664762	26664762	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758291457	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	38	154	0	ENST00000256737.3:c.2309C>T	p.Ala770Val	p.A770V	ENST00000256737	NM_031418.2	770	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31447.1	2309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCGGCTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF16,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000256737	.	23/27	.	.	.	.	.	.	.	.	rs758291457	23/27	PASS	ENST00000256737	Transcript	.	.	ENSG00000134343	14004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ANO3_HUMAN	ANO3	HGNC	E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN	.	UPI00001F9ED8	SNV	ANO3,missense_variant,p.Ala624Val,ENST00000531568,;ANO3,missense_variant,p.Ala754Val,ENST00000525139,;ANO3,missense_variant,p.Ala770Val,ENST00000256737,;ANO3,missense_variant,p.Ala754Val,ENST00000537978,;	3161	154	123	SUCCESS
OR5A1	219982	.	GRCh37	11	59211305	59211305	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	190	0	ENST00000302030.2:c.664G>T	p.Gly222Cys	p.G222C	ENST00000302030	NM_001004728.1	222	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS31561.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATGGTTAC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF176,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000303096	.	1/1	.	.	.	.	.	.	.	.	COSM3450241	1/1	PASS	ENST00000302030	Transcript	.	.	ENSG00000172320	8319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.141)	.	tolerated(0.14)	1	OR5A1_HUMAN	OR5A1	HGNC	.	.	UPI0000041C97	SNV	OR5A1,missense_variant,p.Gly222Cys,ENST00000302030,;	689	190	127	SUCCESS
KRT2	3849	.	GRCh37	12	53039093	53039093	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs571471637	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	71	0	ENST00000309680.3:c.1630C>T	p.Arg544Ter	p.R544*	ENST00000309680	NM_000423.2	544	Cga/Tga	0	.	A:0	.	A:0	.	A	R/*	protein_coding	YES	CCDS8835.1	1630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGGCCTC	CODON|p.R544Q|c.1631G>A|3	by1000G	.	hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239,Low_complexity_(Seg):seg	A:0	.	ENSP00000310861	A:0.001	9/9	.	.	.	.	.	.	.	.	rs571471637	9/9	PASS	ENST00000309680	Transcript	.	A:0.0002	ENSG00000172867	6439	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	K22E_HUMAN	KRT2	HGNC	.	.	UPI0000367804	SNV	KRT2,stop_gained,p.Arg544Ter,ENST00000309680,;KRT2,downstream_gene_variant,,ENST00000547106,;	1652	71	60	SUCCESS
CCER1	196477	.	GRCh37	12	91348442	91348442	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	77	0	ENST00000358859.2:c.78G>A	p.Trp26Ter	p.W26*	ENST00000358859	NM_152638.2	26	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS9036.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15482	.	.	ENSP00000351727	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358859	Transcript	.	.	ENSG00000197651	28373	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCER1_HUMAN	CCER1	HGNC	.	.	UPI000006EE70	SNV	CCER1,stop_gained,p.Trp26Ter,ENST00000358859,;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	512	77	42	SUCCESS
HNRNPC	3183	.	GRCh37	14	21699222	21699222	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1367631708	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	59	0	ENST00000420743.2:c.251T>G	p.Leu84Arg	p.L84R	ENST00000420743		84	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS41915.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAGGTTA	NONE	.	.	Superfamily_domains:SSF54928,PIRSF_domain:PIRSF037992,Gene3D:3.30.70.330,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PROSITE_profiles:PS50102	.	.	ENSP00000319690	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000320084	Transcript	.	.	ENSG00000092199	5035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.356)	.	tolerated(0.07)	.	HNRPC_HUMAN	HNRNPC	HGNC	G3V575_HUMAN,G3V555_HUMAN,G3V4M8_HUMAN,G3V2H6_HUMAN	.	UPI000013C6E4	SNV	HNRNPC,missense_variant,p.Leu84Arg,ENST00000554969,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000555883,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000336053,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000556513,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000553753,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000556897,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000553300,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000556142,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000555176,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000555309,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000554383,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000555137,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000554455,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000554891,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000555914,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000557201,;HNRNPC,missense_variant,p.Leu5Arg,ENST00000557157,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000420743,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000555215,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000320084,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000430246,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000449098,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000556226,;HNRNPC,intron_variant,,ENST00000556628,;HNRNPC,intron_variant,,ENST00000554539,;HNRNPC,downstream_gene_variant,,ENST00000557336,;HNRNPC,downstream_gene_variant,,ENST00000557768,;HNRNPC,missense_variant,p.Leu84Arg,ENST00000557442,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000553614,;HNRNPC,upstream_gene_variant,,ENST00000554417,;	491	59	55	SUCCESS
TGM1	7051	.	GRCh37	14	24729674	24729674	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1202567770	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	78	0	ENST00000206765.6:c.739T>C	p.Phe247Leu	p.F247L	ENST00000206765	NM_000359.2	247	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS9622.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAAGAGGA	NONE	.	.	Superfamily_domains:SSF81296,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,hmmpanther:PTHR11590:SF13,hmmpanther:PTHR11590	.	.	ENSP00000206765	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000206765	Transcript	.	.	ENSG00000092295	11777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	TGM1_HUMAN	TGM1	HGNC	H0YNM4_HUMAN,H0YN27_HUMAN,H0YMQ8_HUMAN,H0YLT9_HUMAN,H0YLJ6_HUMAN,H0YKI6_HUMAN,B4DWR7_HUMAN	.	UPI000000164D	SNV	TGM1,missense_variant,p.Phe247Leu,ENST00000206765,;TGM1,intron_variant,,ENST00000544573,;TGM1,downstream_gene_variant,,ENST00000561067,;TGM1,downstream_gene_variant,,ENST00000558074,;TGM1,downstream_gene_variant,,ENST00000560226,;TGM1,upstream_gene_variant,,ENST00000559136,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,downstream_gene_variant,,ENST00000560478,;	863	78	54	SUCCESS
ZNF106	64397	.	GRCh37	15	42742306	42742306	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	99	0	ENST00000263805.4:c.2095T>G	p.Leu699Val	p.L699V	ENST00000263805	NM_022473.1	699	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS32208.1	2095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAGCTAG	NONE	.	.	hmmpanther:PTHR14435	.	.	ENSP00000263805	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000263805	Transcript	.	.	ENSG00000103994	12886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	ZN106_HUMAN	ZNF106	HGNC	H3BNX5_HUMAN	.	UPI000006D6CC	SNV	ZNF106,missense_variant,p.Leu699Val,ENST00000263805,;ZNF106,missense_variant,p.Leu482Val,ENST00000565948,;ZNF106,intron_variant,,ENST00000565611,;ZNF106,intron_variant,,ENST00000565380,;ZNF106,downstream_gene_variant,,ENST00000567041,;ZNF106,upstream_gene_variant,,ENST00000565500,;ZNF106,downstream_gene_variant,,ENST00000564754,;ZNF106,upstream_gene_variant,,ENST00000567772,;	2422	99	102	SUCCESS
SEMA6D	80031	.	GRCh37	15	48056059	48056059	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs543020539	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	110	0	ENST00000316364.5:c.760C>T	p.Arg254Cys	p.R254C	ENST00000316364	NM_153618.1	254	Cgc/Tgc	0	.	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS32225.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCCGCGTG	NONE	by1000G	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	T:0	.	ENSP00000324857	T:0	10/19	.	.	.	.	.	.	.	.	rs543020539	10/19	PASS	ENST00000316364	Transcript	.	T:0.0002	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	T:0	deleterious(0)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Arg254Cys,ENST00000389432,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000358066,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000389428,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000389425,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000355997,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000389433,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000558014,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000537942,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000354744,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000536845,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000558816,;SEMA6D,missense_variant,p.Arg254Cys,ENST00000316364,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,downstream_gene_variant,,ENST00000561106,;SEMA6D,upstream_gene_variant,,ENST00000558431,;	1199	110	100	SUCCESS
SEMA7A	8482	.	GRCh37	15	74709008	74709008	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140707085	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	16	276	0	ENST00000261918.4:c.709G>A	p.Asp237Asn	p.D237N	ENST00000261918	NM_003612.3	237	Gat/Aat	0	T:0	.	.	.	.	T	D/N	protein_coding	YES	CCDS10262.1	709	MUTECT|MUSE	.	GTCATCGTAAG	NONE	byCluster	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	T:0.0003	ENSP00000261918	.	7/14	.	.	.	.	.	.	.	.	rs140707085	7/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(1)	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,missense_variant,p.Asp72Asn,ENST00000567345,;SEMA7A,missense_variant,p.Asp237Asn,ENST00000261918,;SEMA7A,missense_variant,p.Asp72Asn,ENST00000542748,;SEMA7A,missense_variant,p.Asp223Asn,ENST00000543145,;	1258	276	227	SUCCESS
TBC1D2B	23102	.	GRCh37	15	78305187	78305187	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs754926191	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	15	210	0	ENST00000300584.3:c.2248G>C	p.Gly750Arg	p.G750R	ENST00000300584	NM_144572.1	750	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS45314.1	2248	MUTECT|MUSE	.	GTAGCCGATAT	NONE	byFrequency	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF231,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000300584	.	9/13	.	.	.	.	.	.	.	.	rs754926191	9/13	PASS	ENST00000300584	Transcript	.	.	ENSG00000167202	29183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TBD2B_HUMAN	TBC1D2B	HGNC	Q69YW7_HUMAN,B2RTQ2_HUMAN	.	UPI0000E02247	SNV	TBC1D2B,missense_variant,p.Gly750Arg,ENST00000409931,;TBC1D2B,missense_variant,p.Gly750Arg,ENST00000300584,;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000472786,;	2248	210	208	SUCCESS
ABCC1	4363	.	GRCh37	16	16184313	16184313	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs780819239	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	75	0	ENST00000399410.3:c.2512A>G	p.Ile838Val	p.I838V	ENST00000399410	NM_004996.3	838	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS42122.1	2512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCATCATC	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000382342	.	19/31	.	.	.	.	.	.	.	.	rs780819239	19/31	PASS	ENST00000399410	Transcript	.	.	ENSG00000103222	51	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.07)	.	MRP1_HUMAN	ABCC1	HGNC	Q9BV39_HUMAN	.	UPI00001FEEFC	SNV	ABCC1,missense_variant,p.Ile838Val,ENST00000399408,;ABCC1,missense_variant,p.Ile779Val,ENST00000351154,;ABCC1,missense_variant,p.Ile838Val,ENST00000399410,;ABCC1,missense_variant,p.Ile723Val,ENST00000349029,;ABCC1,missense_variant,p.Ile782Val,ENST00000346370,;ABCC1,missense_variant,p.Ile838Val,ENST00000345148,;ABCC1,missense_variant,p.Ile737Val,ENST00000572882,;ABCC1,non_coding_transcript_exon_variant,,ENST00000575422,;RPL17P40,downstream_gene_variant,,ENST00000400791,;	2687	75	54	SUCCESS
HS3ST6	64711	.	GRCh37	16	1961778	1961778	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779606612	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	147	0	ENST00000293937.3:c.842A>G	p.Asn281Ser	p.N281S	ENST00000293937		281	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45381.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGTTGAAG	NONE	byFrequency	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000390354	.	2/2	.	.	.	.	.	.	.	.	rs779606612	2/2	PASS	ENST00000443547	Transcript	.	.	ENSG00000162040	14178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	.	HS3ST6	HGNC	C9JH64_HUMAN	.	UPI0000E02544	SNV	HS3ST6,missense_variant,p.Asn281Ser,ENST00000293937,;HS3ST6,missense_variant,p.Asn250Ser,ENST00000443547,;HS3ST6,missense_variant,p.Asn298Ser,ENST00000454677,;	749	147	92	SUCCESS
CDH8	1006	.	GRCh37	16	61687550	61687550	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1055288839	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	159	0	ENST00000577390.1:c.2362G>A	p.Glu788Lys	p.E788K	ENST00000577390	NM_001796.4	788	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10802.1	2362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTCGCCCA	SITE|p.E788K|c.2362G>A|4	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10	.	.	ENSP00000462701	.	12/12	.	.	.	.	.	.	.	.	COSM229287	12/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.993)	.	deleterious(0.04)	1	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,missense_variant,p.Glu788Lys,ENST00000577390,;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	3317	159	127	SUCCESS
DNAH9	1770	.	GRCh37	17	11757692	11757692	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368607572	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	104	0	ENST00000262442.4:c.9880G>A	p.Ala3294Thr	p.A3294T	ENST00000262442	NM_001372.3	3294	Gcg/Acg	0	A:0.0002	A:0.0008	.	A:0	.	A	A/T	protein_coding	YES	CCDS11160.1	9880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCGGAC	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777	A:0	A:0	ENSP00000262442	A:0	50/69	.	.	.	.	.	.	.	.	rs368607572	50/69	PASS	ENST00000262442	Transcript	.	A:0.0002	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	A:0	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Ala3294Thr,ENST00000454412,;DNAH9,missense_variant,p.Ala108Thr,ENST00000579703,;DNAH9,missense_variant,p.Ala3294Thr,ENST00000262442,;DNAH9,non_coding_transcript_exon_variant,,ENST00000578834,;	9948	104	102	SUCCESS
GPR179	440435	.	GRCh37	17	36499312	36499312	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	13	158	0	ENST00000342292.4:c.361T>C	p.Ser121Pro	p.S121P	ENST00000342292	NM_001004334.2	121	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS42308.1	361	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGACTCAC	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Ser121Pro,ENST00000342292,;GPR179,non_coding_transcript_exon_variant,,ENST00000494542,;	382	159	124	SUCCESS
MRC2	9902	.	GRCh37	17	60766239	60766239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	117	0	ENST00000303375.5:c.3252C>A	p.Ser1084Arg	p.S1084R	ENST00000303375	NM_006039.4	1084	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS11634.1	3252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCCCTC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000307513	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	deleterious(0.03)	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,missense_variant,p.Ala30Asp,ENST00000446119,;MRC2,missense_variant,p.Ser1084Arg,ENST00000303375,;RNU6-446P,downstream_gene_variant,,ENST00000362827,;MRC2,non_coding_transcript_exon_variant,,ENST00000580916,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;	3654	117	107	SUCCESS
MYOM1	8736	.	GRCh37	18	3090725	3090725	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	26	191	0	ENST00000356443.4:c.3940G>A	p.Gly1314Arg	p.G1314R	ENST00000356443	NM_019856.1	1314	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS45824.1	3940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCCCTCAT	NONE	.	.	hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348821	.	27/38	.	.	.	.	.	.	.	.	.	27/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Gly1314Arg,ENST00000356443,;MYOM1,missense_variant,p.Gly1314Arg,ENST00000400569,;MYOM1,missense_variant,p.Gly1218Arg,ENST00000261606,;RNU7-25P,upstream_gene_variant,,ENST00000516544,;MYOM1,missense_variant,p.Gly14Arg,ENST00000581075,;	4274	191	150	SUCCESS
SBNO2	22904	.	GRCh37	19	1112458	1112458	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	88	0	ENST00000361757.3:c.2458C>T	p.Arg820Cys	p.R820C	ENST00000361757	NM_014963.2	820	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45894.1	2458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCGGCGCC	NONE	.	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706,Pfam_domain:PF13871,Superfamily_domains:SSF52540	.	.	ENSP00000354733	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,missense_variant,p.Arg763Cys,ENST00000438103,;SBNO2,missense_variant,p.Arg810Cys,ENST00000587024,;SBNO2,missense_variant,p.Arg820Cys,ENST00000361757,;SBNO2,downstream_gene_variant,,ENST00000592222,;SBNO2,upstream_gene_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000590446,;SBNO2,upstream_gene_variant,,ENST00000587673,;	2696	88	40	SUCCESS
TSHZ3	57616	.	GRCh37	19	31769301	31769301	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	30	174	0	ENST00000240587.4:c.1398G>C	p.Leu466=	p.L466=	ENST00000240587	NM_020856.2	466	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS12421.2	1398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCAGTTT	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,synonymous_variant,p.%3D,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	1726	174	159	SUCCESS
KIAA0355	0	.	GRCh37	19	34818735	34818735	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	88	0	ENST00000299505.6:c.906C>T	p.Phe302=	p.F302=	ENST00000299505	NM_014686.3	302	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS12436.1	906	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCCACCT	NONE	.	.	hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	.	ENSP00000299505	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,synonymous_variant,p.%3D,ENST00000299505,;KIAA0355,intron_variant,,ENST00000588338,;	1779	88	80	SUCCESS
SAMD4B	55095	.	GRCh37	19	39868421	39868421	+	synonymous_variant	Silent	SNP	C	C	G	rs770146443	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	75	0	ENST00000314471.6:c.1401C>G	p.Ala467=	p.A467=	ENST00000314471	NM_018028.2	467	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS33020.1	1401	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGCCGACGG	NONE	byFrequency	.	hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF9,Gene3D:1oxjA02	.	.	ENSP00000317224	.	10/16	.	.	.	.	.	.	.	.	rs770146443	10/16	PASS	ENST00000314471	Transcript	.	.	ENSG00000179134	25492	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMAG2_HUMAN	SAMD4B	HGNC	M0QY61_HUMAN,M0QXV2_HUMAN	.	UPI00001D8165	SNV	SAMD4B,synonymous_variant,p.%3D,ENST00000598913,;SAMD4B,synonymous_variant,p.%3D,ENST00000314471,;SAMD4B,intron_variant,,ENST00000596368,;SAMD4B,upstream_gene_variant,,ENST00000598605,;SAMD4B,downstream_gene_variant,,ENST00000600018,;SAMD4B,upstream_gene_variant,,ENST00000595476,;SAMD4B,downstream_gene_variant,,ENST00000596319,;	2436	75	58	SUCCESS
FCGBP	8857	.	GRCh37	19	40368846	40368846	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	130	0	ENST00000221347.6:c.12502T>G	p.Ser4168Ala	p.S4168A	ENST00000221347	NM_003890.2	4168	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS12546.1	12502	MUTECT|MUSE|VARSCANS	.	CACGGAGACAG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.299)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Ser4168Ala,ENST00000221347,;	12510	130	111	SUCCESS
LILRB5	10990	.	GRCh37	19	54759311	54759311	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376519844	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	25	193	0	ENST00000449561.2:c.790G>A	p.Val264Ile	p.V264I	ENST00000449561		264	Gtc/Atc	0	T:0.0002	.	.	.	.	T	V/I	protein_coding	YES	CCDS46176.1	790	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACGAGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000406478	.	5/13	.	.	.	.	.	.	.	.	rs376519844	5/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.077)	.	tolerated(0.59)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Val164Ile,ENST00000345866,;LILRB5,missense_variant,p.Val255Ile,ENST00000450632,;LILRB5,missense_variant,p.Val264Ile,ENST00000449561,;LILRB5,missense_variant,p.Val264Ile,ENST00000316219,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;	861	193	202	SUCCESS
ZNF71	58491	.	GRCh37	19	57133319	57133319	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754884155	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	16	95	0	ENST00000328070.6:c.664G>A	p.Ala222Thr	p.A222T	ENST00000328070	NM_021216.4	222	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12947.1	664	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGCCTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	rs754884155	3/3	PASS	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	tolerated(0.13)	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,missense_variant,p.Ala222Thr,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	898	95	109	SUCCESS
CELSR2	1952	.	GRCh37	1	109793709	109793709	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	56	0	ENST00000271332.3:c.1008C>T	p.Pro336=	p.P336=	ENST00000271332	NM_001408.2	336	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS796.1	1008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCTCTGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000271332	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,synonymous_variant,p.%3D,ENST00000271332,;	1069	56	50	SUCCESS
ALX3	257	.	GRCh37	1	110607343	110607343	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs535409677	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	100	311	0	ENST00000369792.4:c.460C>A	p.Arg154Ser	p.R154S	ENST00000369792	NM_006492.2	154	Cgt/Agt	0	.	A:0	.	A:0.0014	.	T	R/S	protein_coding	YES	CCDS819.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGACGCTTCT	NONE	by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF267,hmmpanther:PTHR24329,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	A:0	.	ENSP00000358807	A:0	2/4	.	.	.	.	.	.	.	.	rs535409677	2/4	PASS	ENST00000369792	Transcript	.	A:0.0002	ENSG00000156150	449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	A:0	deleterious(0)	.	ALX3_HUMAN	ALX3	HGNC	.	.	UPI000013DE5F	SNV	ALX3,missense_variant,p.Arg154Ser,ENST00000369792,;RP4-773N10.4,downstream_gene_variant,,ENST00000554749,;RP4-773N10.4,downstream_gene_variant,,ENST00000596959,;STRIP1,intron_variant,,ENST00000473429,;	548	311	196	SUCCESS
HIST2H2BA	0	.	GRCh37	1	120906259	120906259	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1245637444	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	57	192	0	ENST00000430394.1:n.232C>T		p.*78*	ENST00000430394				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGCGCATC	NONE	.	1100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427872	Transcript	.	.	ENSG00000227193	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-439A17.4	Clone_based_vega_gene	.	.	.	SNV	RP11-439A17.4,upstream_gene_variant,,ENST00000427872,;RP11-439A17.10,upstream_gene_variant,,ENST00000426275,;HIST2H2BA,non_coding_transcript_exon_variant,,ENST00000430394,;HIST2H2BA,non_coding_transcript_exon_variant,,ENST00000412169,;HIST2H3DP1,downstream_gene_variant,,ENST00000401004,;	.	192	170	SUCCESS
MTMR11	10903	.	GRCh37	1	149901687	149901687	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868984659	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	17	75	0	ENST00000439741.2:c.1769G>A	p.Arg590His	p.R590H	ENST00000439741	NM_001145862.1	590	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS53360.1	1769	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAACGAGAA	NONE	.	.	Pfam_domain:PF12578,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,PROSITE_profiles:PS51339	.	.	ENSP00000391668	.	16/17	.	.	.	.	.	.	.	.	COSM1258036,COSM1258035	16/17	PASS	ENST00000439741	Transcript	.	.	ENSG00000014914	24307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.08)	.	tolerated(0.26)	1,1	MTMRB_HUMAN	MTMR11	HGNC	.	.	UPI000173AA17	SNV	MTMR11,missense_variant,p.Arg518His,ENST00000369140,;MTMR11,missense_variant,p.Arg590His,ENST00000439741,;MTMR11,3_prime_UTR_variant,,ENST00000406732,;MTMR11,3_prime_UTR_variant,,ENST00000361405,;SF3B4,upstream_gene_variant,,ENST00000457312,;SF3B4,upstream_gene_variant,,ENST00000271628,;MTMR11,non_coding_transcript_exon_variant,,ENST00000495054,;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,non_coding_transcript_exon_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000479272,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	2020	75	114	SUCCESS
FLG2	388698	.	GRCh37	1	152327807	152327807	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	270	12	112	1	ENST00000388718.5:c.2455G>A	p.Gly819Ser	p.G819S	ENST00000388718	NM_001014342.2	819	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS30861.1	2455	MUTECT|MUSE	.	AAAGCCAGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Gly819Ser,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	2528	113	282	SUCCESS
PGLYRP4	57115	.	GRCh37	1	153317700	153317700	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs554667521	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	59	0	ENST00000359650.5:c.298C>T	p.Arg100Trp	p.R100W	ENST00000359650	NM_020393.2	100	Cgg/Tgg	0	.	A:0	.	A:0.0014	.	A	R/W	protein_coding	YES	CCDS30871.1	298	RADIA|MUTECT|MUSE	.	TTCCCGCAGTC	NONE	by1000G	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	A:0	.	ENSP00000352672	A:0	4/9	.	.	.	.	.	.	.	.	rs554667521	4/9	PASS	ENST00000359650	Transcript	.	A:0.0002	ENSG00000163218	30015	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.056)	A:0	tolerated(0.05)	.	PGRP4_HUMAN	PGLYRP4	HGNC	.	.	UPI000013F78A	SNV	PGLYRP4,missense_variant,p.Arg96Trp,ENST00000368739,;PGLYRP4,missense_variant,p.Arg100Trp,ENST00000359650,;PGLYRP4,non_coding_transcript_exon_variant,,ENST00000490266,;	363	59	100	SUCCESS
CD1E	913	.	GRCh37	1	158325665	158325665	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202212296	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	399	31	254	1	ENST00000368167.3:c.674G>A	p.Arg225His	p.R225H	ENST00000368167	NM_030893.3	225	cGt/cAt	0	A:0.003	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS41417.1	674	MUTECT|MUSE	.	TGGCCGTCTGC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	A:0.001	A:0	ENSP00000357149	A:0	4/6	.	.	.	.	.	.	.	.	rs202212296,COSM1335161	4/6	common_in_exac	ENST00000368167	Transcript	.	A:0.0006	ENSG00000158488	1638	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.001)	A:0.001	tolerated(0.42)	0,1	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,missense_variant,p.Arg135His,ENST00000368165,;CD1E,missense_variant,p.Arg225His,ENST00000368163,;CD1E,missense_variant,p.Arg223His,ENST00000434258,;CD1E,missense_variant,p.Arg36His,ENST00000368166,;CD1E,missense_variant,p.Arg126His,ENST00000444681,;CD1E,missense_variant,p.Arg225His,ENST00000368161,;CD1E,missense_variant,p.Arg36His,ENST00000368154,;CD1E,missense_variant,p.Arg225His,ENST00000368160,;CD1E,missense_variant,p.Arg225His,ENST00000368167,;CD1E,missense_variant,p.Arg135His,ENST00000368156,;CD1E,missense_variant,p.Arg36His,ENST00000368164,;CD1E,missense_variant,p.Arg135His,ENST00000368155,;CD1E,missense_variant,p.Arg36His,ENST00000452291,;CD1E,missense_variant,p.Arg36His,ENST00000368157,;CD1E,upstream_gene_variant,,ENST00000368162,;CD1E,downstream_gene_variant,,ENST00000464822,;	913	255	430	SUCCESS
GNB1	2782	.	GRCh37	1	1720616	1720617	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	56	183	0	ENST00000378609.4:c.791dup	p.Tyr264Ter	p.Y264*	ENST00000378609	NM_002074.3	264	tac/taAc	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS34.1	791-792	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGAGTAAGT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19850,Gene3D:2.130.10.10,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000367872	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000378609	Transcript	.	.	ENSG00000078369	4396	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBB1_HUMAN	GNB1	HGNC	Q71UM7_HUMAN,Q71UM6_HUMAN,F6UT28_HUMAN,B3KVK2_HUMAN,B1AKQ8_HUMAN	.	UPI00000230B3	insertion	GNB1,stop_gained,p.Tyr264Ter,ENST00000378609,;GNB1,downstream_gene_variant,,ENST00000434686,;GNB1,downstream_gene_variant,,ENST00000439272,;GNB1,non_coding_transcript_exon_variant,,ENST00000471354,;GNB1,non_coding_transcript_exon_variant,,ENST00000461893,;	1123-1124	183	168	SUCCESS
NVL	4931	.	GRCh37	1	224475603	224475603	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	22	149	0	ENST00000281701.6:c.1668C>A	p.Phe556Leu	p.F556L	ENST00000281701	NM_002533.3	556	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS1541.1	1668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATGAAATC	NONE	.	.	Gene3D:3.40.50.300,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55	.	.	ENSP00000281701	.	14/23	.	.	.	.	.	.	.	.	COSM3864569,COSM255719	14/23	PASS	ENST00000281701	Transcript	.	.	ENSG00000143748	8070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.947)	.	deleterious(0)	1,1	NVL_HUMAN	NVL	HGNC	Q96PA2_HUMAN	.	UPI0000073F3E	SNV	NVL,missense_variant,p.Phe280Leu,ENST00000482491,;NVL,missense_variant,p.Phe450Leu,ENST00000361463,;NVL,missense_variant,p.Phe367Leu,ENST00000340871,;NVL,missense_variant,p.Phe450Leu,ENST00000391875,;NVL,missense_variant,p.Phe556Leu,ENST00000281701,;NVL,missense_variant,p.Phe439Leu,ENST00000469968,;NVL,missense_variant,p.Phe465Leu,ENST00000469075,;NVL,downstream_gene_variant,,ENST00000462893,;NVL,downstream_gene_variant,,ENST00000467882,;	1928	149	98	SUCCESS
HDAC1	3065	.	GRCh37	1	32794750	32794750	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774635583	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	44	0	ENST00000373548.3:c.718A>T	p.Ile240Phe	p.I240F	ENST00000373548	NM_004964.2	240	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS360.1	718	RADIA|VARSCANS	.	AGGCCATTTTC	NONE	byFrequency	.	hmmpanther:PTHR10625:SF113,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271	.	.	ENSP00000362649	.	7/14	.	.	.	.	.	.	.	.	rs774635583	7/14	PASS	ENST00000373548	Transcript	.	.	ENSG00000116478	4852	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.912)	.	deleterious(0)	.	HDAC1_HUMAN	HDAC1	HGNC	Q6IT96_HUMAN,F5GXM1_HUMAN	.	UPI0000035528	SNV	HDAC1,missense_variant,p.Ile240Phe,ENST00000373548,;HDAC1,missense_variant,p.Ile47Phe,ENST00000373541,;HDAC1,downstream_gene_variant,,ENST00000428704,;MARCKSL1,downstream_gene_variant,,ENST00000329421,;HDAC1,non_coding_transcript_exon_variant,,ENST00000490081,;HDAC1,non_coding_transcript_exon_variant,,ENST00000482310,;HDAC1,downstream_gene_variant,,ENST00000481281,;HDAC1,downstream_gene_variant,,ENST00000463172,;HDAC1,downstream_gene_variant,,ENST00000472928,;HDAC1,upstream_gene_variant,,ENST00000476391,;HDAC1,upstream_gene_variant,,ENST00000471488,;HDAC1,upstream_gene_variant,,ENST00000484305,;	802	44	30	SUCCESS
SIRPB2	284759	.	GRCh37	20	1460431	1460431	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	56	215	0	ENST00000359801.3:c.365C>T	p.Thr122Ile	p.T122I	ENST00000359801	NM_001122962.1	122	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS42849.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTGTGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF9,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000352849	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000359801	Transcript	.	.	ENSG00000196209	16247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	deleterious(0)	.	SIRB2_HUMAN	SIRPB2	HGNC	.	.	UPI00001D8311	SNV	SIRPB2,missense_variant,p.Thr122Ile,ENST00000359801,;SIRPB2,5_prime_UTR_variant,,ENST00000537284,;SIRPB2,intron_variant,,ENST00000444444,;SIRPB2,intron_variant,,ENST00000608747,;SIRPB2,missense_variant,p.Thr122Ile,ENST00000486775,;SIRPB2,missense_variant,p.Thr122Ile,ENST00000481731,;SIRPB2,synonymous_variant,p.%3D,ENST00000608073,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000609796,;SIRPB2,intron_variant,,ENST00000381630,;	402	215	201	SUCCESS
FERMT1	55612	.	GRCh37	20	6057869	6057869	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	20	150	0	ENST00000217289.4:c.1985A>T	p.Glu662Val	p.E662V	ENST00000217289	NM_017671.4	662	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13098.1	1985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTTCATTC	NONE	.	.	hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160	.	.	ENSP00000217289	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000217289	Transcript	1	.	ENSG00000101311	15889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	FERM1_HUMAN	FERMT1	HGNC	Q5JWV4_HUMAN,G3V1L6_HUMAN	.	UPI00001285DD	SNV	FERMT1,missense_variant,p.Glu405Val,ENST00000536936,;FERMT1,missense_variant,p.Glu662Val,ENST00000217289,;FERMT1,non_coding_transcript_exon_variant,,ENST00000478194,;	2774	150	117	SUCCESS
GMEB2	26205	.	GRCh37	20	62250655	62250655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	67	0	ENST00000266068.1:c.96G>T	p.Lys32Asn	p.K32N	ENST00000266068		32	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS13528.1	96	MUTECT|MUSE	.	ACGGTCTTCAC	NONE	.	.	hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF2	.	.	ENSP00000266068	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000266068	Transcript	.	.	ENSG00000101216	4371	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	GMEB2_HUMAN	GMEB2	HGNC	Q659E7_HUMAN,Q5JTV1_HUMAN	.	UPI000012B8AD	SNV	GMEB2,missense_variant,p.Lys32Asn,ENST00000266068,;GMEB2,missense_variant,p.Lys32Asn,ENST00000370077,;	575	67	40	SUCCESS
SLC2A4RG	56731	.	GRCh37	20	62373927	62373927	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772765211	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	35	0	ENST00000266077.2:c.919G>A	p.Val307Ile	p.V307I	ENST00000266077	NM_020062.3	307	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS13537.1	919	MUTECT|MUSE|VARSCANS	.	GCACCGTTGCT	NONE	byFrequency	.	hmmpanther:PTHR13006,hmmpanther:PTHR13006:SF5	.	.	ENSP00000266077	.	6/8	.	.	.	.	.	.	.	.	rs772765211	6/8	PASS	ENST00000266077	Transcript	.	.	ENSG00000125520	15930	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.172)	.	tolerated(0.37)	.	S2A4R_HUMAN	SLC2A4RG	HGNC	Q2PHL5_HUMAN	.	UPI000013D6CE	SNV	SLC2A4RG,missense_variant,p.Val307Ile,ENST00000266077,;ZBTB46,downstream_gene_variant,,ENST00000395104,;RP4-583P15.14,downstream_gene_variant,,ENST00000467211,;LIME1,downstream_gene_variant,,ENST00000493265,;ZBTB46,downstream_gene_variant,,ENST00000245663,;LIME1,downstream_gene_variant,,ENST00000309546,;ZBTB46,downstream_gene_variant,,ENST00000302995,;LIME1,downstream_gene_variant,,ENST00000444951,;RP4-583P15.10,upstream_gene_variant,,ENST00000433905,;RP4-583P15.10,upstream_gene_variant,,ENST00000447343,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000493772,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000496425,;SLC2A4RG,intron_variant,,ENST00000473157,;LIME1,downstream_gene_variant,,ENST00000490824,;SLC2A4RG,downstream_gene_variant,,ENST00000482718,;SLC2A4RG,downstream_gene_variant,,ENST00000485897,;LIME1,downstream_gene_variant,,ENST00000476183,;SLC2A4RG,downstream_gene_variant,,ENST00000491109,;LIME1,downstream_gene_variant,,ENST00000496820,;LIME1,downstream_gene_variant,,ENST00000465591,;RP4-583P15.14,downstream_gene_variant,,ENST00000476221,;LIME1,downstream_gene_variant,,ENST00000487026,;SLC2A4RG,downstream_gene_variant,,ENST00000474248,;LIME1,downstream_gene_variant,,ENST00000489212,;LIME1,downstream_gene_variant,,ENST00000480139,;LIME1,downstream_gene_variant,,ENST00000494776,;RP4-583P15.15,downstream_gene_variant,,ENST00000490623,;	971	35	33	SUCCESS
SIM2	6493	.	GRCh37	21	38095410	38095410	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	72	0	ENST00000290399.6:c.522C>A	p.Gly174=	p.G174=	ENST00000290399	NM_005069.3	174	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13646.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCCTGAC	NONE	.	.	hmmpanther:PTHR23043:SF19,hmmpanther:PTHR23043,Superfamily_domains:SSF55785	.	.	ENSP00000290399	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,synonymous_variant,p.%3D,ENST00000431229,;SIM2,synonymous_variant,p.%3D,ENST00000430056,;SIM2,synonymous_variant,p.%3D,ENST00000290399,;SIM2,downstream_gene_variant,,ENST00000483178,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	1135	72	55	SUCCESS
FTCD	10841	.	GRCh37	21	47575400	47575401	+	inframe_insertion	In_Frame_Ins	INS	-	-	CCATAA	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	94	0	ENST00000291670.5:c.37_38insTTATGG	p.Ser12_Glu13insValMet	p.S12_E13insVM	ENST00000291670	NM_006657.2	13	gag/gTTATGGag	0	.	.	.	.	.	CCATAA	E/VME	protein_coding	YES	CCDS13731.1	37-38	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCCTCCGAA	NONE	.	.	hmmpanther:PTHR12234:SF0,hmmpanther:PTHR12234,Pfam_domain:PF07837,Gene3D:1qd1A01,TIGRFAM_domain:TIGR02024,Superfamily_domains:SSF55116	.	.	ENSP00000291670	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000291670	Transcript	.	.	ENSG00000160282	3974	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FTCD_HUMAN	FTCD	HGNC	Q49AR5_HUMAN,D3DSM8_HUMAN	.	UPI000012AC75	insertion	FTCD,inframe_insertion,p.Ser12_Glu13insValMet,ENST00000397746,;FTCD,inframe_insertion,p.Ser12_Glu13insValMet,ENST00000359679,;FTCD,inframe_insertion,p.Ser12_Glu13insValMet,ENST00000291670,;FTCD,inframe_insertion,p.Ser12_Glu13insValMet,ENST00000397743,;FTCD,inframe_insertion,p.Ser12_Glu13insValMet,ENST00000355384,;FTCD,inframe_insertion,p.Ser12_Glu13insValMet,ENST00000397748,;FTCD-AS1,downstream_gene_variant,,ENST00000446649,;FTCD,non_coding_transcript_exon_variant,,ENST00000498355,;	81-82	94	57	SUCCESS
TNRC6B	23112	.	GRCh37	22	40521858	40521858	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	78	1	ENST00000301923.9:c.37A>G	p.Ser13Gly	p.S13G	ENST00000301923	NM_001024843.1	13	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	.	CCDS46712.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCAGTTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000384795	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000402203	Transcript	.	.	ENSG00000100354	29190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.15)	.	TNR6B_HUMAN	TNRC6B	HGNC	B0QYM5_HUMAN	.	UPI0000072E1A	SNV	TNRC6B,missense_variant,p.Ser13Gly,ENST00000402203,;TNRC6B,missense_variant,p.Ser13Gly,ENST00000441751,;TNRC6B,missense_variant,p.Ser13Gly,ENST00000301923,;	272	79	67	SUCCESS
MGAT5	4249	.	GRCh37	2	135170467	135170467	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	25	222	0	ENST00000281923.2:c.1558G>A	p.Glu520Lys	p.E520K	ENST00000281923	NM_002410.4	520	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2171.1	1558	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACGAGGGC	NONE	.	.	Pfam_domain:PF15024,hmmpanther:PTHR15075:SF3,hmmpanther:PTHR15075	.	.	ENSP00000386377	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000409645	Transcript	.	.	ENSG00000152127	7049	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.854)	.	deleterious(0)	.	MGT5A_HUMAN	MGAT5	HGNC	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN	.	UPI0000049D8F	SNV	MGAT5,missense_variant,p.Glu520Lys,ENST00000281923,;MGAT5,missense_variant,p.Glu520Lys,ENST00000409645,;	1810	222	203	SUCCESS
GTF3C3	9330	.	GRCh37	2	197634689	197634689	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	87	0	ENST00000263956.3:c.2335C>T	p.His779Tyr	p.H779Y	ENST00000263956	NM_012086.4	779	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS2316.1	2335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATGAATAA	NONE	.	.	hmmpanther:PTHR23082,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000263956	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000263956	Transcript	.	.	ENSG00000119041	4666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	TF3C3_HUMAN	GTF3C3	HGNC	.	.	UPI0000070C01	SNV	GTF3C3,missense_variant,p.His779Tyr,ENST00000263956,;GTF3C3,downstream_gene_variant,,ENST00000416690,;GTF3C3,upstream_gene_variant,,ENST00000481098,;	2425	87	86	SUCCESS
SPEG	10290	.	GRCh37	2	220333960	220333960	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767242646	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	54	156	0	ENST00000312358.7:c.3574C>T	p.Arg1192Trp	p.R1192W	ENST00000312358	NM_005876.4	1192	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS42824.1	3574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCGGCCA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	13/41	.	.	.	.	.	.	.	.	rs767242646	13/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Arg1192Trp,ENST00000312358,;SPEG,downstream_gene_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000396688,;SPEG,downstream_gene_variant,,ENST00000396686,;SPEG,downstream_gene_variant,,ENST00000396689,;SPEG,downstream_gene_variant,,ENST00000396698,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000498378,;SPEG,downstream_gene_variant,,ENST00000496786,;SPEG,downstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000464989,;SPEG,downstream_gene_variant,,ENST00000475921,;SPEG,upstream_gene_variant,,ENST00000485069,;	3706	156	154	SUCCESS
CEBPZ	10153	.	GRCh37	2	37455988	37455988	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	33	0	ENST00000234170.5:c.348A>G	p.Lys116=	p.K116=	ENST00000234170	NM_005760.2	116	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS1787.1	348	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTTTTTT	NONE	.	.	hmmpanther:PTHR12048	.	.	ENSP00000234170	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000234170	Transcript	.	.	ENSG00000115816	24218	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CEBPZ_HUMAN	CEBPZ	HGNC	.	.	UPI0000072AAB	SNV	CEBPZ,synonymous_variant,p.%3D,ENST00000234170,;CEBPZ,synonymous_variant,p.%3D,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000002125,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;NDUFAF7,upstream_gene_variant,,ENST00000336237,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;	494	33	39	SUCCESS
NKIRAS1	28512	.	GRCh37	3	23942421	23942421	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	16	119	0	ENST00000388759.3:c.214C>G	p.Pro72Ala	p.P72A	ENST00000388759		72	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS33717.1	214	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGCAGCT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF214,PROSITE_profiles:PS51419	.	.	ENSP00000393785	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000443659	Transcript	.	.	ENSG00000197885	17899	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.759)	.	tolerated(0.1)	.	KBRS1_HUMAN	NKIRAS1	HGNC	.	.	UPI000004A03F	SNV	NKIRAS1,missense_variant,p.Pro72Ala,ENST00000443659,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000416026,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000425478,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000437230,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000388759,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000415901,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000412028,;NKIRAS1,missense_variant,p.Pro72Ala,ENST00000421515,;	992	119	141	SUCCESS
NKIRAS1	28512	.	GRCh37	3	23942422	23942422	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	16	122	0	ENST00000388759.3:c.213G>T	p.Leu71=	p.L71=	ENST00000388759		71	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33717.1	213	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCAGCTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF214,PROSITE_profiles:PS51419	.	.	ENSP00000393785	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000443659	Transcript	.	.	ENSG00000197885	17899	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KBRS1_HUMAN	NKIRAS1	HGNC	.	.	UPI000004A03F	SNV	NKIRAS1,synonymous_variant,p.%3D,ENST00000443659,;NKIRAS1,synonymous_variant,p.%3D,ENST00000416026,;NKIRAS1,synonymous_variant,p.%3D,ENST00000425478,;NKIRAS1,synonymous_variant,p.%3D,ENST00000437230,;NKIRAS1,synonymous_variant,p.%3D,ENST00000388759,;NKIRAS1,synonymous_variant,p.%3D,ENST00000415901,;NKIRAS1,synonymous_variant,p.%3D,ENST00000412028,;NKIRAS1,synonymous_variant,p.%3D,ENST00000421515,;	991	122	139	SUCCESS
ZNF852	285346	.	GRCh37	3	44541117	44541117	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs758443673	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	19	0	ENST00000436261.1:c.1152G>C	p.Lys384Asn	p.K384N	ENST00000436261	NM_001287349.1	384	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	.	1152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACACTTAAA	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF192,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000389841	.	4/4	.	.	.	.	.	.	.	.	rs758443673	4/4	PASS	ENST00000436261	Transcript	.	.	ENSG00000178917	27713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious(0.03)	.	ZN852_HUMAN	ZNF852	HGNC	.	.	UPI000198C97D	SNV	ZNF852,missense_variant,p.Lys384Asn,ENST00000436261,;ZNF852,non_coding_transcript_exon_variant,,ENST00000489411,;ZNF852,non_coding_transcript_exon_variant,,ENST00000463067,;	1313	19	31	SUCCESS
FAT4	79633	.	GRCh37	4	126238284	126238284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	121	0	ENST00000394329.3:c.718G>T	p.Val240Leu	p.V240L	ENST00000394329	NM_024582.4	240	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS3732.3	718	MUTECT|MUSE	.	TGACTGTGCAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.124)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Val240Leu,ENST00000394329,;	731	121	83	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148778702	148778702	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	39	0	ENST00000336498.3:c.385-2A>G		p.X129_splice	ENST00000336498	NM_024605.3	129		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34075.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTAGGAAG	NONE	.	.	.	.	.	ENSP00000336923	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	HIGH	4/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,splice_acceptor_variant,,ENST00000336498,;ARHGAP10,splice_acceptor_variant,,ENST00000510379,;ARHGAP10,upstream_gene_variant,,ENST00000506054,;	.	39	35	SUCCESS
UGT2B28	54490	.	GRCh37	4	70160274	70160274	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	65	0	ENST00000335568.5:c.1337C>G	p.Ser446Ter	p.S446*	ENST00000335568	NM_053039.1	446	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS3528.1	1337	RADIA|MUTECT|MUSE	.	ATTATCAATAA	NONE	.	.	hmmpanther:PTHR11926:SF142,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000334276	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000335568	Transcript	.	.	ENSG00000135226	13479	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UDB28_HUMAN	UGT2B28	HGNC	.	.	UPI0000137A9F	SNV	UGT2B28,stop_gained,p.Ser446Ter,ENST00000335568,;UGT2B28,3_prime_UTR_variant,,ENST00000511240,;	1339	65	58	SUCCESS
GRSF1	2926	.	GRCh37	4	71691022	71691022	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	136	0	ENST00000254799.6:c.1384T>C	p.Ser462Pro	p.S462P	ENST00000254799	NM_002092.3	462	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS47069.1	1384	MUTECT|MUSE	.	GTGGGACCGAT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF26,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360	.	.	ENSP00000254799	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000254799	Transcript	.	.	ENSG00000132463	4610	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.725)	.	deleterious(0.02)	.	GRSF1_HUMAN	GRSF1	HGNC	.	.	UPI0001838834	SNV	GRSF1,missense_variant,p.Ser435Pro,ENST00000499044,;GRSF1,missense_variant,p.Ser300Pro,ENST00000439371,;GRSF1,missense_variant,p.Ser344Pro,ENST00000545193,;GRSF1,missense_variant,p.Ser399Pro,ENST00000514161,;GRSF1,missense_variant,p.Ser462Pro,ENST00000254799,;GRSF1,missense_variant,p.Ser300Pro,ENST00000502323,;GRSF1,intron_variant,,ENST00000508091,;GRSF1,3_prime_UTR_variant,,ENST00000506453,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;	1502	136	74	SUCCESS
ALB	213	.	GRCh37	4	74283258	74283259	+	frameshift_variant	Frame_Shift_Del	DEL	CG	CG	-	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	CG	CG	.	.	.	.	.	.	.	.	.	.	.	.	.	88	14	102	0	ENST00000295897.4:c.1300_1301del	p.Arg434LeufsTer29	p.R434Lfs*29	ENST00000295897	NM_000477.5	434	CGt/t	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS3555.1	1300-1301	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAGTTCGTTACA	BUFFER|p.R434C|c.1300C>T|3	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Arg434LeufsTer29,ENST00000509063,;ALB,frameshift_variant,p.Arg279LeufsTer29,ENST00000511370,;ALB,frameshift_variant,p.Arg242LeufsTer29,ENST00000415165,;ALB,frameshift_variant,p.Arg434LeufsTer29,ENST00000295897,;ALB,frameshift_variant,p.Arg284LeufsTer29,ENST00000503124,;ALB,frameshift_variant,p.Arg319LeufsTer29,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000504043,;	1389-1390	102	102	SUCCESS
PCDHGA1	56114	.	GRCh37	5	140712536	140712536	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	47	233	0	ENST00000517417.1:c.2285A>G	p.Asp762Gly	p.D762G	ENST00000517417	NM_018912.2	762	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54922.1	2285	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGACTCGC	NONE	.	.	hmmpanther:PTHR24028:SF108,hmmpanther:PTHR24028	.	.	ENSP00000431083	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000517417	Transcript	.	.	ENSG00000204956	8696	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.101)	.	tolerated_low_confidence(0.17)	.	PCDG1_HUMAN	PCDHGA1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070596	SNV	PCDHGA1,missense_variant,p.Asp762Gly,ENST00000517417,;PCDHGA1,missense_variant,p.Asp762Gly,ENST00000378105,;AC005618.6,downstream_gene_variant,,ENST00000606901,;	2285	233	229	SUCCESS
PCDHGB3	56102	.	GRCh37	5	140750845	140750845	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	76	0	ENST00000576222.1:c.884A>G	p.Asp295Gly	p.D295G	ENST00000576222	NM_018924.2	295	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS58980.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGACAGTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000461862	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000576222	Transcript	.	.	ENSG00000262209	8710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.554)	.	deleterious(0.01)	.	PCDGF_HUMAN	PCDHGB3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FA6F	SNV	PCDHGB3,missense_variant,p.Asp295Gly,ENST00000576222,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA6,upstream_gene_variant,,ENST00000517434,;	1015	76	91	SUCCESS
DHX29	54505	.	GRCh37	5	54570765	54570765	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	96	0	ENST00000251636.5:c.2501A>G	p.Gln834Arg	p.Q834R	ENST00000251636	NM_019030.2	834	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34158.1	2501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGAGTG	NONE	.	.	hmmpanther:PTHR18934:SF82,hmmpanther:PTHR18934	.	.	ENSP00000251636	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000251636	Transcript	.	.	ENSG00000067248	15815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	DHX29_HUMAN	DHX29	HGNC	.	.	UPI00001AE72C	SNV	DHX29,missense_variant,p.Gln834Arg,ENST00000251636,;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000513447,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	2650	96	72	SUCCESS
KIAA0825	285600	.	GRCh37	5	93807341	93807341	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	11	137	0	ENST00000513200.3:c.1551G>T	p.Val517=	p.V517=	ENST00000513200	NM_001145678.1	517	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	.	.	1551	MUTECT|MUSE	.	GCCTCCACCAA	NONE	.	.	Pfam_domain:PF14906	.	.	ENSP00000400288	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000427991	Transcript	.	.	ENSG00000185261	28532	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KIAA0825	HGNC	C9J0Q2_HUMAN	.	UPI0001D3B505	SNV	KIAA0825,synonymous_variant,p.%3D,ENST00000427991,;KIAA0825,synonymous_variant,p.%3D,ENST00000312498,;KIAA0825,synonymous_variant,p.%3D,ENST00000513200,;KIAA0825,non_coding_transcript_exon_variant,,ENST00000504117,;	1551	137	153	SUCCESS
STXBP5	134957	.	GRCh37	6	147680286	147680286	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	84	0	ENST00000321680.6:c.2372G>T	p.Arg791Leu	p.R791L	ENST00000321680	NM_001127715.2	791	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS47499.1	2372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGAGAAG	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22	.	.	ENSP00000321826	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.16)	.	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,missense_variant,p.Arg791Leu,ENST00000321680,;STXBP5,missense_variant,p.Arg117Leu,ENST00000367475,;STXBP5,missense_variant,p.Arg738Leu,ENST00000367480,;STXBP5,missense_variant,p.Arg115Leu,ENST00000392291,;STXBP5,missense_variant,p.Arg446Leu,ENST00000179882,;STXBP5,missense_variant,p.Arg755Leu,ENST00000367481,;	2372	84	52	SUCCESS
ACOT13	55856	.	GRCh37	6	24698153	24698153	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	93	0	ENST00000230048.4:c.124A>G	p.Met42Val	p.M42V	ENST00000230048	NM_018473.3	42	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS4558.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAATGAAA	NONE	.	.	hmmpanther:PTHR21660,Gene3D:3.10.129.10,TIGRFAM_domain:TIGR00369,Superfamily_domains:SSF54637	.	.	ENSP00000230048	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000230048	Transcript	.	.	ENSG00000112304	20999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.03)	.	ACO13_HUMAN	ACOT13	HGNC	.	.	UPI0000131D18	SNV	ACOT13,missense_variant,p.Met42Val,ENST00000230048,;ACOT13,missense_variant,p.Met19Val,ENST00000537591,;RP1-30M3.5,downstream_gene_variant,,ENST00000607014,;ACOT13,non_coding_transcript_exon_variant,,ENST00000476436,;	317	93	85	SUCCESS
SLC17A2	10246	.	GRCh37	6	25917214	25917214	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	79	0	ENST00000265425.3:c.751T>C	p.Ser251Pro	p.S251P	ENST00000265425		251	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4567.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGACAGGA	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF07690,hmmpanther:PTHR11662:SF193,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	.	.	ENSP00000353677	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000360488	Transcript	.	.	ENSG00000112337	10930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0.02)	.	NPT3_HUMAN	SLC17A2	HGNC	.	.	UPI0000000DB7	SNV	SLC17A2,missense_variant,p.Ser251Pro,ENST00000377850,;SLC17A2,missense_variant,p.Ser251Pro,ENST00000265425,;SLC17A2,missense_variant,p.Ser251Pro,ENST00000360488,;	1169	79	85	SUCCESS
OGFRL1	79627	.	GRCh37	6	72003034	72003034	+	synonymous_variant	Silent	SNP	A	A	G	rs1370413268	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	17	107	0	ENST00000370435.4:c.273A>G	p.Arg91=	p.R91=	ENST00000370435	NM_024576.3	91	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS34482.1	273	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGAAGTTT	NONE	.	.	hmmpanther:PTHR14015:SF2,hmmpanther:PTHR14015	.	.	ENSP00000359464	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000370435	Transcript	.	.	ENSG00000119900	21378	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OGRL1_HUMAN	OGFRL1	HGNC	.	.	UPI000021D446	SNV	OGFRL1,synonymous_variant,p.%3D,ENST00000370435,;RP3-331H24.5,downstream_gene_variant,,ENST00000602823,;RP11-154D6.1,intron_variant,,ENST00000587253,;RP11-154D6.1,intron_variant,,ENST00000423255,;RP11-154D6.1,intron_variant,,ENST00000588612,;RP11-154D6.1,intron_variant,,ENST00000591156,;RP11-154D6.1,intron_variant,,ENST00000412751,;RP11-154D6.1,intron_variant,,ENST00000586232,;RP11-154D6.1,downstream_gene_variant,,ENST00000586030,;RP11-154D6.1,downstream_gene_variant,,ENST00000432050,;OGFRL1,non_coding_transcript_exon_variant,,ENST00000467503,;	407	107	123	SUCCESS
ZNF425	155054	.	GRCh37	7	148823340	148823340	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	72	0	ENST00000378061.2:c.-35C>T		p.*12*	ENST00000378061	NM_001001661.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34773.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGGCCTCC	NONE	.	.	.	.	.	ENSP00000367300	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000378061	Transcript	.	.	ENSG00000204947	20690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN425_HUMAN	ZNF425	HGNC	.	.	UPI00001B64B9	SNV	ZNF425,5_prime_UTR_variant,,ENST00000483014,;ZNF425,5_prime_UTR_variant,,ENST00000378061,;ZNF398,upstream_gene_variant,,ENST00000426851,;RN7SL521P,upstream_gene_variant,,ENST00000488398,;	99	72	60	SUCCESS
LMBR1	64327	.	GRCh37	7	156685632	156685632	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	45	0	ENST00000353442.5:c.56G>T	p.Arg19Leu	p.R19L	ENST00000353442	NM_022458.3	19	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5945.1	56	RADIA|SOMATICSNIPER|MUSE	.	ACTCCCGCACT	NONE	.	.	hmmpanther:PTHR12625:SF1,hmmpanther:PTHR12625	.	.	ENSP00000326604	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000353442	Transcript	.	.	ENSG00000105983	13243	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	deleterious(0)	.	LMBR1_HUMAN	LMBR1	HGNC	Q7LDY5_HUMAN	.	UPI000005340E	SNV	LMBR1,missense_variant,p.Arg17Leu,ENST00000415428,;LMBR1,missense_variant,p.Arg19Leu,ENST00000353442,;LMBR1,missense_variant,p.Arg19Leu,ENST00000354505,;LMBR1,synonymous_variant,p.%3D,ENST00000540390,;LMBR1,non_coding_transcript_exon_variant,,ENST00000433968,;LMBR1,non_coding_transcript_exon_variant,,ENST00000430278,;LMBR1,upstream_gene_variant,,ENST00000461469,;LMBR1,upstream_gene_variant,,ENST00000498034,;LMBR1,missense_variant,p.Arg19Leu,ENST00000434453,;LMBR1,missense_variant,p.Arg19Leu,ENST00000434278,;LMBR1,missense_variant,p.Arg19Leu,ENST00000414218,;LMBR1,missense_variant,p.Arg19Leu,ENST00000444719,;LMBR1,missense_variant,p.Arg19Leu,ENST00000454132,;LMBR1,missense_variant,p.Arg19Leu,ENST00000434503,;LMBR1,non_coding_transcript_exon_variant,,ENST00000485985,;	293	45	16	SUCCESS
ANKMY2	57037	.	GRCh37	7	16640522	16640522	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	57	0	ENST00000306999.2:c.1190A>T	p.Glu397Val	p.E397V	ENST00000306999	NM_020319.2	397	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS5361.1	1190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTCTGGT	NONE	.	.	hmmpanther:PTHR24150	.	.	ENSP00000303570	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000306999	Transcript	.	.	ENSG00000106524	25370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.21)	.	ANKY2_HUMAN	ANKMY2	HGNC	.	.	UPI0000035D93	SNV	ANKMY2,missense_variant,p.Glu397Val,ENST00000306999,;ANKMY2,3_prime_UTR_variant,,ENST00000447802,;	1434	57	58	SUCCESS
DFNA5	0	.	GRCh37	7	24749890	24749890	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs771163879	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	55	0	ENST00000342947.3:c.815C>G	p.Ala272Gly	p.A272G	ENST00000342947	NM_004403.2	272	gCg/gGg	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS5389.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCGCAGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	.	.	ENSP00000339587	.	6/10	.	.	.	.	.	.	.	.	rs771163879	6/10	PASS	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.51)	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,missense_variant,p.Ala272Gly,ENST00000409775,;DFNA5,missense_variant,p.Ala272Gly,ENST00000342947,;DFNA5,missense_variant,p.Ala61Gly,ENST00000415480,;DFNA5,missense_variant,p.Ala108Gly,ENST00000545231,;DFNA5,missense_variant,p.Ala108Gly,ENST00000419307,;DFNA5,missense_variant,p.Ala108Gly,ENST00000409970,;DFNA5,missense_variant,p.Ala97Gly,ENST00000446822,;DFNA5,upstream_gene_variant,,ENST00000430096,;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,;DFNA5,3_prime_UTR_variant,,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000469133,;DFNA5,upstream_gene_variant,,ENST00000479636,;	1241	55	58	SUCCESS
GLI3	2737	.	GRCh37	7	42005994	42005994	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	22	0	ENST00000395925.3:c.2677G>A	p.Asp893Asn	p.D893N	ENST00000395925	NM_000168.5	893	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5465.1	2677	RADIA|SOMATICSNIPER|MUSE	.	GGAGTCGGCCA	NONE	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.83)	.	deleterious(0.02)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Asp893Asn,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	2762	22	15	SUCCESS
AEBP1	165	.	GRCh37	7	44150363	44150363	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	107	0	ENST00000223357.3:c.1440T>A	p.Asn480Lys	p.N480K	ENST00000223357	NM_001129.4	480	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS5476.1	1440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAATGACAG	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000223357	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000223357	Transcript	.	.	ENSG00000106624	303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AEBP1_HUMAN	AEBP1	HGNC	B4DJB3_HUMAN	.	UPI00000746E2	SNV	AEBP1,missense_variant,p.Asn480Lys,ENST00000223357,;AEBP1,5_prime_UTR_variant,,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000452185,;AEBP1,downstream_gene_variant,,ENST00000455443,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,missense_variant,p.Asn41Lys,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000489883,;AEBP1,downstream_gene_variant,,ENST00000453052,;	1745	107	85	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72420659	72420659	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs782682832	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	78	416	0	ENST00000388955.4:n.780G>A		p.*260*	ENST00000388955				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59059.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGGGAA	NONE	.	.	.	.	.	ENSP00000378687	.	16/16	.	.	.	.	.	.	.	.	rs782682832	16/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,3_prime_UTR_variant,,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000446813,;POM121,downstream_gene_variant,,ENST00000257622,;POM121,downstream_gene_variant,,ENST00000434423,;POM121,downstream_gene_variant,,ENST00000358357,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000388955,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000602348,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000444583,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000485741,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000457352,;	5691	416	372	SUCCESS
CCDC132	0	.	GRCh37	7	92952972	92952972	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	50	0	ENST00000305866.5:c.1905T>A	p.Val635=	p.V635=	ENST00000305866	NM_017667.3	635	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43617.1	1905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTATTCA	NONE	.	.	hmmpanther:PTHR13258	.	.	ENSP00000307666	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000305866	Transcript	.	.	ENSG00000004766	25956	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC132_HUMAN	CCDC132	HGNC	A7MD03_HUMAN	.	UPI000015F998	SNV	CCDC132,synonymous_variant,p.%3D,ENST00000305866,;CCDC132,synonymous_variant,p.%3D,ENST00000544910,;CCDC132,synonymous_variant,p.%3D,ENST00000535481,;CCDC132,synonymous_variant,p.%3D,ENST00000541136,;CCDC132,downstream_gene_variant,,ENST00000458707,;CCDC132,downstream_gene_variant,,ENST00000317751,;CCDC132,non_coding_transcript_exon_variant,,ENST00000467326,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000480943,;CCDC132,intron_variant,,ENST00000471188,;	2033	50	33	SUCCESS
CDCA2	157313	.	GRCh37	8	25341513	25341513	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	51	1	ENST00000330560.3:c.1152T>C	p.Phe384=	p.F384=	ENST00000330560	NM_152562.2	384	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS6049.1	1152	MUTECT|MUSE	.	GCCTTTCTAAA	NONE	.	.	hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603	.	.	ENSP00000328228	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000330560	Transcript	.	.	ENSG00000184661	14623	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDCA2_HUMAN	CDCA2	HGNC	.	.	UPI000013DF9A	SNV	CDCA2,synonymous_variant,p.%3D,ENST00000380665,;CDCA2,synonymous_variant,p.%3D,ENST00000330560,;CDCA2,non_coding_transcript_exon_variant,,ENST00000523454,;CDCA2,non_coding_transcript_exon_variant,,ENST00000521098,;	1629	52	44	SUCCESS
SVEP1	79987	.	GRCh37	9	113169740	113169740	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	6	101	0	ENST00000374469.1:c.8071T>C	p.Ser2691Pro	p.S2691P	ENST00000374469		2691	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS48004.1	8140	MUTECT|MUSE	.	AATTGAAATGC	NONE	.	.	Superfamily_domains:SSF57535,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	38/48	.	.	.	.	.	.	.	.	.	38/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.126)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Ser2714Pro,ENST00000401783,;SVEP1,missense_variant,p.Ser2691Pro,ENST00000374469,;SVEP1,missense_variant,p.Ser640Pro,ENST00000297826,;	8477	101	119	SUCCESS
OR1L6	392390	.	GRCh37	9	125512279	125512279	+	synonymous_variant	Silent	SNP	C	C	T	rs777871723	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	43	284	0	ENST00000373684.1:c.261C>T	p.Tyr87=	p.Y87=	ENST00000373684		87	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS35130.2	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACTCTGA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF194,PROSITE_profiles:PS50262	.	.	ENSP00000304235	.	1/1	.	.	.	.	.	.	.	.	rs777871723	1/1	PASS	ENST00000304720	Transcript	.	.	ENSG00000171459	8218	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1L6_HUMAN	OR1L6	HGNC	.	.	UPI000003CAAE	SNV	OR1L6,synonymous_variant,p.%3D,ENST00000304720,;OR1L6,synonymous_variant,p.%3D,ENST00000373684,;	153	284	211	SUCCESS
GPSM1	26086	.	GRCh37	9	139244074	139244074	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	113	0	ENST00000440944.1:c.1314G>A	p.Trp438Ter	p.W438*	ENST00000440944	NM_001145638.2	438	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS48055.1	1314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGCGGGG	NONE	.	.	hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36	.	.	ENSP00000392828	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,stop_gained,p.Trp438Ter,ENST00000440944,;GPSM1,stop_gained,p.Trp415Ter,ENST00000354753,;GPSM1,upstream_gene_variant,,ENST00000429455,;	1534	113	79	SUCCESS
GRIN1	2902	.	GRCh37	9	140058393	140058393	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	25	0	ENST00000371561.3:c.2589+37G>A		p.*863*	ENST00000371561	NM_007327.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55354.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCCCGG	NONE	.	.	.	.	.	ENSP00000360608	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODIFIER	19/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Ala876Thr,ENST00000350902,;GRIN1,intron_variant,,ENST00000371555,;GRIN1,intron_variant,,ENST00000315048,;GRIN1,intron_variant,,ENST00000371561,;GRIN1,intron_variant,,ENST00000371550,;GRIN1,intron_variant,,ENST00000371553,;GRIN1,intron_variant,,ENST00000371559,;GRIN1,intron_variant,,ENST00000371546,;GRIN1,intron_variant,,ENST00000371560,;LRRC26,downstream_gene_variant,,ENST00000371542,;GRIN1,non_coding_transcript_exon_variant,,ENST00000460273,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000473811,;GRIN1,upstream_gene_variant,,ENST00000462584,;RP11-350O14.18,downstream_gene_variant,,ENST00000568665,;	.	25	17	SUCCESS
IFNA7	3444	.	GRCh37	9	21201807	21201807	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	82	375	0	ENST00000239347.3:c.358G>A	p.Glu120Lys	p.E120K	ENST00000239347	NM_021057.2	120	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34995.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCCAGGT	NONE	.	.	hmmpanther:PTHR11691:SF29,hmmpanther:PTHR11691,Pfam_domain:PF00143,Gene3D:1.20.1250.10,SMART_domains:SM00076,Superfamily_domains:SSF47266	.	.	ENSP00000239347	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239347	Transcript	.	.	ENSG00000214042	5428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	tolerated(0.2)	.	IFNA7_HUMAN	IFNA7	HGNC	.	.	UPI000004775E	SNV	IFNA7,missense_variant,p.Glu120Lys,ENST00000239347,;IFNA10,downstream_gene_variant,,ENST00000357374,;	398	375	255	SUCCESS
C9orf72	203228	.	GRCh37	9	27548315	27548315	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	57	0	ENST00000380003.3:c.1365T>G	p.Ile455Met	p.I455M	ENST00000380003	NM_001256054.1	455	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS6522.1	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTAATTTT	NONE	.	.	hmmpanther:PTHR31855,hmmpanther:PTHR31855:SF1	.	.	ENSP00000369339	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000380003	Transcript	.	.	ENSG00000147894	28337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.19)	.	CI072_HUMAN	C9orf72	HGNC	Q9NUW0_HUMAN	.	UPI00001D3FEF	SNV	C9orf72,missense_variant,p.Ile455Met,ENST00000380003,;C9orf72,non_coding_transcript_exon_variant,,ENST00000488117,;	1429	57	54	SUCCESS
C9orf131	138724	.	GRCh37	9	35045380	35045380	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	39	0	ENST00000312292.5:c.2754A>G	p.Pro918=	p.P918=	ENST00000312292	NM_203299.2	918	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6572.2	2754	MUTECT|MUSE	.	GGCCCAGGAGA	NONE	.	.	hmmpanther:PTHR21777	.	.	ENSP00000308279	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312292	Transcript	.	.	ENSG00000174038	31418	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CI131_HUMAN	C9orf131	HGNC	.	.	UPI00001605AC	SNV	C9orf131,synonymous_variant,p.%3D,ENST00000421362,;C9orf131,synonymous_variant,p.%3D,ENST00000312292,;C9orf131,synonymous_variant,p.%3D,ENST00000354479,;C9orf131,downstream_gene_variant,,ENST00000378745,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000534880,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	2801	39	37	SUCCESS
LDOC1	23641	.	GRCh37	X	140270987	140270987	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	77	0	ENST00000370526.2:c.220del	p.Tyr74ThrfsTer4	p.Y74Tfs*4	ENST00000370526	NM_012317.2	74	Tac/ac	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS14672.1	220	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATGTAAGACG	NONE	.	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF3	.	.	ENSP00000359557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370526	Transcript	.	.	ENSG00000182195	6548	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LDOC1_HUMAN	LDOC1	HGNC	.	.	UPI00000373D3	deletion	LDOC1,frameshift_variant,p.Tyr74ThrfsTer4,ENST00000370526,;RP3-507I15.2,upstream_gene_variant,,ENST00000566241,;LDOC1,intron_variant,,ENST00000460721,;	324	77	65	SUCCESS
HCFC1	3054	.	GRCh37	X	153220034	153220034	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	153	0	ENST00000310441.7:c.3816G>A	p.Val1272=	p.V1272=	ENST00000310441	NM_005334.2	1272	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44020.1	3816	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTGTCACAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF266	.	.	ENSP00000309555	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000310441	Transcript	.	.	ENSG00000172534	4839	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HCFC1_HUMAN	HCFC1	HGNC	Q05C05_HUMAN	.	UPI0000142F1F	SNV	HCFC1,synonymous_variant,p.%3D,ENST00000369984,;HCFC1,synonymous_variant,p.%3D,ENST00000310441,;HCFC1,synonymous_variant,p.%3D,ENST00000354233,;HCFC1,upstream_gene_variant,,ENST00000444191,;	4783	153	92	SUCCESS
KNDC1	85442	.	GRCh37	10	135012267	135012267	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771852065	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	33	0	ENST00000304613.3:c.2255G>A	p.Arg752His	p.R752H	ENST00000304613		752	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS7674.1	2255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGTGACT	BUFFER|p.Q751H|c.2253G>T|3,BUFFER|p.S754A|c.2260T>G|4	byFrequency	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	.	.	ENSP00000304437	.	14/30	.	.	.	.	.	.	.	.	rs771852065	14/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.47)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Arg687His,ENST00000368571,;KNDC1,missense_variant,p.Arg752His,ENST00000304613,;KNDC1,missense_variant,p.Arg752His,ENST00000368572,;	2276	33	40	SUCCESS
KIAA1217	56243	.	GRCh37	10	24834953	24834953	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	65	319	0	ENST00000376454.3:c.5532A>T	p.Thr1844=	p.T1844=	ENST00000376454	NM_019590.3	1844	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31165.1	5532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGGACC	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,synonymous_variant,p.%3D,ENST00000376454,;KIAA1217,synonymous_variant,p.%3D,ENST00000376452,;KIAA1217,synonymous_variant,p.%3D,ENST00000376462,;KIAA1217,synonymous_variant,p.%3D,ENST00000458595,;KIAA1217,3_prime_UTR_variant,,ENST00000396445,;KIAA1217,3_prime_UTR_variant,,ENST00000376451,;KIAA1217,downstream_gene_variant,,ENST00000307544,;KIAA1217,downstream_gene_variant,,ENST00000396446,;KIAA1217,downstream_gene_variant,,ENST00000492009,;	5562	319	175	SUCCESS
VCL	7414	.	GRCh37	10	75871688	75871688	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	137	0	ENST00000211998.4:c.2767G>A	p.Val923Met	p.V923M	ENST00000211998	NM_014000.2	923	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS7341.1	2767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGTGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18914:SF22,hmmpanther:PTHR18914	.	.	ENSP00000211998	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000211998	Transcript	1	.	ENSG00000035403	12665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated_low_confidence(0.11)	.	VINC_HUMAN	VCL	HGNC	Q5JQ13_HUMAN	.	UPI0000167B54	SNV	VCL,missense_variant,p.Val595Met,ENST00000436396,;VCL,missense_variant,p.Val923Met,ENST00000211998,;VCL,intron_variant,,ENST00000417648,;VCL,intron_variant,,ENST00000372755,;VCL,downstream_gene_variant,,ENST00000472585,;	2861	137	93	SUCCESS
LDB3	11155	.	GRCh37	10	88478582	88478582	+	synonymous_variant	Silent	SNP	C	C	T	rs139213290	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	7	149	0	ENST00000361373.4:c.1956C>T	p.Asp652=	p.D652=	ENST00000361373	NM_007078.2	652	gaC/gaT	0	T:0.0002	T:0.0008	.	T:0.0014	.	T	D	protein_coding	YES	CCDS53550.1	1971	MUTECT|MUSE	likely_benign	GAAGACGGGGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24214:SF9,hmmpanther:PTHR24214,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	T:0	T:0.0001	ENSP00000401437	T:0	12/14	.	.	.	.	.	.	.	.	rs139213290,COSM1349405,COSM1349404	12/14	PASS	ENST00000429277	Transcript	1	T:0.0004	ENSG00000122367	15710	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	.	T:0	.	0,1,1	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,synonymous_variant,p.%3D,ENST00000352360,;LDB3,synonymous_variant,p.%3D,ENST00000361373,;LDB3,synonymous_variant,p.%3D,ENST00000458213,;LDB3,synonymous_variant,p.%3D,ENST00000263066,;LDB3,synonymous_variant,p.%3D,ENST00000429277,;LDB3,non_coding_transcript_exon_variant,,ENST00000477489,;	2116	149	135	SUCCESS
MUC5B	727897	.	GRCh37	11	1256342	1256342	+	synonymous_variant	Silent	SNP	C	C	T	rs769335872	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	42	125	0	ENST00000529681.1:c.2658C>T	p.Cys886=	p.C886=	ENST00000529681	NM_002458.2	886	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS44515.2	2658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCAGCCA	NONE	byFrequency	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,SMART_domains:SM00215,SMART_domains:SM00214,SMART_domains:SM00216	.	.	ENSP00000436812	.	22/49	.	.	.	.	.	.	.	.	rs769335872	22/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	2716	125	88	SUCCESS
RRM1	6240	.	GRCh37	11	4142990	4142990	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	187	0	ENST00000300738.5:c.1033A>T	p.Asn345Tyr	p.N345Y	ENST00000300738	NM_001033.3	345	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS7750.1	1033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAATCAG	NONE	.	.	Superfamily_domains:SSF51998,Pfam_domain:PF02867,TIGRFAM_domain:TIGR02506,hmmpanther:PTHR11573	.	.	ENSP00000300738	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000300738	Transcript	.	.	ENSG00000167325	10451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious_low_confidence(0)	.	RIR1_HUMAN	RRM1	HGNC	F5H861_HUMAN,E9PL69_HUMAN,E9PD78_HUMAN,B4DNN4_HUMAN	.	UPI0000000C7C	SNV	RRM1,missense_variant,p.Asn248Tyr,ENST00000423050,;RRM1,missense_variant,p.Asn7Tyr,ENST00000537197,;RRM1,missense_variant,p.Asn345Tyr,ENST00000300738,;RRM1,missense_variant,p.Asn123Tyr,ENST00000534285,;RRM1,non_coding_transcript_exon_variant,,ENST00000528470,;RRM1,non_coding_transcript_exon_variant,,ENST00000526304,;RRM1,3_prime_UTR_variant,,ENST00000533495,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,;RRM1,3_prime_UTR_variant,,ENST00000528442,;RRM1,non_coding_transcript_exon_variant,,ENST00000531591,;RRM1,upstream_gene_variant,,ENST00000529109,;	1237	187	92	SUCCESS
UBQLN3	50613	.	GRCh37	11	5528949	5528949	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	117	0	ENST00000311659.4:c.1840G>C	p.Ala614Pro	p.A614P	ENST00000311659	NM_017481.2	614	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7758.1	1840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCCTCAG	NONE	.	.	PROSITE_profiles:PS50030,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4,Gene3D:1.10.8.10,Superfamily_domains:SSF46934	.	.	ENSP00000347997	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311659	Transcript	.	.	ENSG00000175520	12510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	tolerated(0.13)	.	UBQL3_HUMAN	UBQLN3	HGNC	C9IYQ4_HUMAN	.	UPI000006E3A0	SNV	UBQLN3,missense_variant,p.Ala614Pro,ENST00000311659,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000396895,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	1988	117	62	SUCCESS
TMEM126B	55863	.	GRCh37	11	85346851	85346851	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	73	0	ENST00000358867.6:c.509+29T>C		p.*170*	ENST00000358867	NM_018480.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8267.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTTTCT	NONE	.	.	.	.	.	ENSP00000351737	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358867	Transcript	.	.	ENSG00000171204	30883	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T126B_HUMAN	TMEM126B	HGNC	.	.	UPI00003D5F21	SNV	TMEM126B,3_prime_UTR_variant,,ENST00000534341,;TMEM126B,intron_variant,,ENST00000393375,;TMEM126B,intron_variant,,ENST00000531274,;TMEM126B,intron_variant,,ENST00000358867,;TMEM126B,intron_variant,,ENST00000529197,;TMEM126B,intron_variant,,ENST00000526822,;TMEM126B,intron_variant,,ENST00000530783,;TMEM126B,intron_variant,,ENST00000531477,;TMEM126B,downstream_gene_variant,,ENST00000530901,;TMEM126B,downstream_gene_variant,,ENST00000531718,;TMEM126B,downstream_gene_variant,,ENST00000528361,;	.	73	38	SUCCESS
TMEM132C	92293	.	GRCh37	12	128899651	128899651	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	145	0	ENST00000435159.2:c.460A>G	p.Met154Val	p.M154V	ENST00000435159	NM_001136103.2	154	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	.	460	RADIA|MUSE	.	ACATCATGGGC	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4	.	.	ENSP00000410852	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000435159	Transcript	.	.	ENSG00000181234	25436	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	T132C_HUMAN	TMEM132C	HGNC	F5H439_HUMAN,E9PC33_HUMAN	.	UPI0001C0B37C	SNV	TMEM132C,missense_variant,p.Met154Val,ENST00000435159,;	460	145	48	SUCCESS
CNTN1	1272	.	GRCh37	12	41318438	41318438	+	synonymous_variant	Silent	SNP	C	C	G	rs771697105	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	214	0	ENST00000347616.1:c.480C>G	p.Pro160=	p.P160=	ENST00000347616		160	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS8737.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCCCATA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50835	.	.	ENSP00000447006	.	6/24	.	.	.	.	.	.	.	.	rs771697105	6/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,synonymous_variant,p.%3D,ENST00000347616,;CNTN1,synonymous_variant,p.%3D,ENST00000348761,;CNTN1,synonymous_variant,p.%3D,ENST00000551295,;CNTN1,synonymous_variant,p.%3D,ENST00000360099,;CNTN1,synonymous_variant,p.%3D,ENST00000547702,;CNTN1,synonymous_variant,p.%3D,ENST00000547849,;CNTN1,downstream_gene_variant,,ENST00000552248,;CNTN1,downstream_gene_variant,,ENST00000548005,;	597	214	105	SUCCESS
PUS7L	83448	.	GRCh37	12	44148626	44148626	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	111	0	ENST00000344862.5:c.423C>T	p.Ala141=	p.A141=	ENST00000344862	NM_031292.4	141	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8743.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGGCAAA	NONE	.	.	PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326:SF5,hmmpanther:PTHR13326	.	.	ENSP00000415899	.	2/9	.	.	.	.	.	.	.	.	COSM548143	2/9	PASS	ENST00000416848	Transcript	.	.	ENSG00000129317	25276	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PUS7L_HUMAN	PUS7L	HGNC	F8VZA0_HUMAN,F8VWC0_HUMAN,F8VW99_HUMAN,F8VP66_HUMAN,B3KUJ1_HUMAN	.	UPI0000037C53	SNV	PUS7L,synonymous_variant,p.%3D,ENST00000416848,;PUS7L,synonymous_variant,p.%3D,ENST00000344862,;PUS7L,synonymous_variant,p.%3D,ENST00000553166,;PUS7L,synonymous_variant,p.%3D,ENST00000551923,;PUS7L,intron_variant,,ENST00000431332,;PUS7L,intron_variant,,ENST00000547156,;PUS7L,intron_variant,,ENST00000550784,;IRAK4,upstream_gene_variant,,ENST00000440781,;PUS7L,downstream_gene_variant,,ENST00000549868,;IRAK4,upstream_gene_variant,,ENST00000551736,;IRAK4,upstream_gene_variant,,ENST00000448290,;IRAK4,upstream_gene_variant,,ENST00000550616,;IRAK4,upstream_gene_variant,,ENST00000431837,;IRAK4,upstream_gene_variant,,ENST00000552309,;IRAK4,upstream_gene_variant,,ENST00000546780,;IRAK4,upstream_gene_variant,,ENST00000547101,;IRAK4,upstream_gene_variant,,ENST00000550361,;IRAK4,upstream_gene_variant,,ENST00000547521,;IRAK4,upstream_gene_variant,,ENST00000550615,;IRAK4,upstream_gene_variant,,ENST00000550386,;	912	111	72	SUCCESS
GPR84	53831	.	GRCh37	12	54757190	54757190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	76	0	ENST00000267015.3:c.446T>C	p.Val149Ala	p.V149A	ENST00000267015	NM_020370.2	149	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS8878.1	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCACGCCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF59,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000450310	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000551809	Transcript	.	.	ENSG00000139572	4535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.22)	.	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,missense_variant,p.Val149Ala,ENST00000551809,;GPR84,missense_variant,p.Val149Ala,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	1082	76	42	SUCCESS
PTPRB	5787	.	GRCh37	12	70931914	70931914	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	105	0	ENST00000261266.5:c.5292+21T>C		p.*1764*	ENST00000261266	NM_002837.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44943.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTATGGCC	NONE	.	.	.	.	.	ENSP00000334928	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODIFIER	28/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,intron_variant,,ENST00000538708,;PTPRB,intron_variant,,ENST00000261266,;PTPRB,intron_variant,,ENST00000334414,;PTPRB,intron_variant,,ENST00000550358,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000547656,;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000548687,;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000551438,;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;PTPRB,downstream_gene_variant,,ENST00000549400,;	.	105	66	SUCCESS
PTPRQ	374462	.	GRCh37	12	80887157	80887157	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	90	0	ENST00000266688.5:c.1451C>T	p.Ala484Val	p.A484V	ENST00000266688		484	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	.	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCTACAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,SMART_domains:SM00060	.	.	ENSP00000266688	.	15/50	.	.	.	.	.	.	.	.	.	15/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	tolerated(0.22)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Ala484Val,ENST00000266688,;	1451	90	47	SUCCESS
LINC00283	0	.	GRCh37	13	103397021	103397021	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1215258254	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	46	139	0	ENST00000430111.1:n.1394G>A		p.*465*	ENST00000430111				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTGTACTG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000430111	Transcript	.	.	ENSG00000231633	38809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00283	HGNC	.	.	.	SNV	LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,;	1394	139	89	SUCCESS
DGKH	160851	.	GRCh37	13	42764600	42764600	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	101	1	ENST00000337343.4:c.1974C>T	p.Ser658=	p.S658=	ENST00000337343	NM_178009.3	658	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9381.1	1974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCACAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11255:SF37,hmmpanther:PTHR11255	.	.	ENSP00000337572	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000337343	Transcript	.	.	ENSG00000102780	2854	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKH_HUMAN	DGKH	HGNC	.	.	UPI000017DA47	SNV	DGKH,synonymous_variant,p.%3D,ENST00000536612,;DGKH,synonymous_variant,p.%3D,ENST00000379274,;DGKH,synonymous_variant,p.%3D,ENST00000261491,;DGKH,synonymous_variant,p.%3D,ENST00000538674,;DGKH,synonymous_variant,p.%3D,ENST00000540693,;DGKH,synonymous_variant,p.%3D,ENST00000337343,;DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;	1995	102	52	SUCCESS
SUPT16H	11198	.	GRCh37	14	21829290	21829311	+	frameshift_variant	Frame_Shift_Del	DEL	TAATAATTCGGAAAGCATTCTG	TAATAATTCGGAAAGCATTCTG	-	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	TAATAATTCGGAAAGCATTCTG	TAATAATTCGGAAAGCATTCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	167	0	ENST00000216297.2:c.1855_1876del	p.Gln619LysfsTer21	p.Q619Kfs*21	ENST00000216297	NM_007192.3	619	CAGAATGCTTTCCGAATTATTAaa/aa	0	.	.	.	.	.	-	QNAFRIIK/X	protein_coding	YES	CCDS9569.1	1855-1876	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTTTAATAATTCGGAAAGCATTCTGAAGGT	NONE	.	.	hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980,Pfam_domain:PF08644	.	.	ENSP00000216297	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000216297	Transcript	.	.	ENSG00000092201	11465	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SP16H_HUMAN	SUPT16H	HGNC	.	.	UPI0000035D5C	deletion	SUPT16H,frameshift_variant,p.Gln619LysfsTer21,ENST00000216297,;SUPT16H,upstream_gene_variant,,ENST00000557394,;	2194-2215	167	88	SUCCESS
DPPA3P2	400206	.	GRCh37	14	36840659	36840659	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	110	0	ENST00000557188.1:n.290C>T		p.*97*	ENST00000557188				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	AGGGTCTCCAC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000557188	Transcript	.	.	ENSG00000188831	20417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DPPA3P2	HGNC	.	.	.	SNV	DPPA3P2,non_coding_transcript_exon_variant,,ENST00000557188,;DPPA3P2,non_coding_transcript_exon_variant,,ENST00000340350,;DPPA3P2,non_coding_transcript_exon_variant,,ENST00000553589,;	290	110	48	SUCCESS
CDKN3	1033	.	GRCh37	14	54878223	54878223	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1314092141	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	78	0	ENST00000335183.6:c.215T>C	p.Ile72Thr	p.I72T	ENST00000335183	NM_005192.3	72	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS9716.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTATACAAG	NONE	.	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF037322,Pfam_domain:PF05706,Gene3D:3.90.190.10,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF24	.	.	ENSP00000335357	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000335183	Transcript	.	.	ENSG00000100526	1791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	tolerated(0.25)	.	CDKN3_HUMAN	CDKN3	HGNC	Q9BY34_HUMAN	.	UPI000000D8BB	SNV	CDKN3,missense_variant,p.Ile26Thr,ENST00000395577,;CDKN3,missense_variant,p.Ile72Thr,ENST00000541304,;CDKN3,missense_variant,p.Ile72Thr,ENST00000335183,;CDKN3,missense_variant,p.Ile72Thr,ENST00000556102,;CDKN3,missense_variant,p.Ile32Thr,ENST00000442975,;CDKN3,missense_variant,p.Ile72Thr,ENST00000543789,;CDKN3,missense_variant,p.Ile72Thr,ENST00000458126,;CDKN3,non_coding_transcript_exon_variant,,ENST00000556305,;CDKN3,non_coding_transcript_exon_variant,,ENST00000555837,;CDKN3,intron_variant,,ENST00000216414,;	329	78	36	SUCCESS
ATG2B	55102	.	GRCh37	14	96798729	96798729	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	74	333	0	ENST00000359933.4:c.1381G>T	p.Glu461Ter	p.E461*	ENST00000359933	NM_018036.5	461	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS9944.2	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCTCCCC	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	10/42	.	.	.	.	.	.	.	.	.	10/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,stop_gained,p.Glu461Ter,ENST00000359933,;	2275	334	199	SUCCESS
LTK	4058	.	GRCh37	15	41799394	41799394	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	105	0	ENST00000263800.6:c.1440C>G	p.Ala480=	p.A480=	ENST00000263800	NM_002344.5	480	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS10077.1	1440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGGCTGT	NONE	.	.	hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416	.	.	ENSP00000263800	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000263800	Transcript	.	.	ENSG00000062524	6721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,synonymous_variant,p.%3D,ENST00000561619,;LTK,synonymous_variant,p.%3D,ENST00000263800,;LTK,synonymous_variant,p.%3D,ENST00000355166,;LTK,intron_variant,,ENST00000453182,;ITPKA,downstream_gene_variant,,ENST00000425927,;ITPKA,downstream_gene_variant,,ENST00000260386,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,intron_variant,,ENST00000569283,;ITPKA,downstream_gene_variant,,ENST00000491007,;ITPKA,downstream_gene_variant,,ENST00000462816,;	1537	105	64	SUCCESS
SHC4	399694	.	GRCh37	15	49176517	49176517	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	101	0	ENST00000332408.4:c.768G>T	p.Gln256His	p.Q256H	ENST00000332408	NM_203349.3	256	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS10130.1	768	MUTECT|MUSE	.	GAAAACTGAAG	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000329668	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,missense_variant,p.Gln256His,ENST00000332408,;EID1,downstream_gene_variant,,ENST00000530028,;EID1,downstream_gene_variant,,ENST00000558295,;	1197	101	57	SUCCESS
UNC13C	440279	.	GRCh37	15	54825124	54825124	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	90	0	ENST00000260323.11:c.5556T>A	p.Val1852=	p.V1852=	ENST00000260323	NM_001080534.1	1852	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45264.1	5556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTTATAAT	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000559093,;UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;	5556	90	50	SUCCESS
PEAK1	79834	.	GRCh37	15	77473962	77473962	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	40	189	0	ENST00000312493.4:c.307G>C	p.Gly103Arg	p.G103R	ENST00000312493	NM_024776.3	103	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS42062.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCTATGA	NONE	.	.	hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5	.	.	ENSP00000452796	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0.01)	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,missense_variant,p.Gly103Arg,ENST00000560626,;PEAK1,missense_variant,p.Gly103Arg,ENST00000558305,;PEAK1,missense_variant,p.Gly103Arg,ENST00000564328,;PEAK1,missense_variant,p.Gly103Arg,ENST00000312493,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,upstream_gene_variant,,ENST00000560854,;	783	189	115	SUCCESS
SH2D7	646892	.	GRCh37	15	78393469	78393469	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	38	103	0	ENST00000328828.5:c.874C>T	p.Pro292Ser	p.P292S	ENST00000328828	NM_001101404.1	292	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45315.1	874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGCCTGAT	NONE	.	.	hmmpanther:PTHR14388,hmmpanther:PTHR14388:SF6	.	.	ENSP00000327846	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000328828	Transcript	.	.	ENSG00000183476	34549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(0.09)	.	SH2D7_HUMAN	SH2D7	HGNC	B8ZZB5_HUMAN	.	UPI00006C15D7	SNV	SH2D7,missense_variant,p.Pro292Ser,ENST00000328828,;SH2D7,missense_variant,p.Pro156Ser,ENST00000409568,;CIB2,downstream_gene_variant,,ENST00000539011,;CIB2,downstream_gene_variant,,ENST00000258930,;CIB2,downstream_gene_variant,,ENST00000557846,;CIB2,downstream_gene_variant,,ENST00000559645,;CIB2,downstream_gene_variant,,ENST00000560618,;CIB2,downstream_gene_variant,,ENST00000561190,;CIB2,downstream_gene_variant,,ENST00000557818,;CIB2,downstream_gene_variant,,ENST00000557917,;	874	103	59	SUCCESS
AXIN1	8312	.	GRCh37	16	364598	364598	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs377639730	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	93	0	ENST00000262320.3:c.964del	p.Glu322SerfsTer92	p.E322Sfs*92	ENST00000262320	NM_003502.3	322	Gag/ag	0	T:0	.	.	.	.	-	E/X	protein_coding	YES	CCDS10405.1	964	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGCTCGCTGT	NONE	byCluster	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	T:0.0001	ENSP00000262320	.	3/11	.	.	.	.	.	.	.	.	rs377639730,COSM142852,COSM143895	3/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	deletion	AXIN1,frameshift_variant,p.Glu322SerfsTer92,ENST00000262320,;AXIN1,frameshift_variant,p.Glu322SerfsTer92,ENST00000354866,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1336	93	46	SUCCESS
BRD7	29117	.	GRCh37	16	50367608	50367608	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	32	121	0	ENST00000394688.3:c.888G>T	p.Lys296Asn	p.K296N	ENST00000394688		296	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS54007.1	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCCTGAA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.432)	.	tolerated(0.06)	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,missense_variant,p.Lys296Asn,ENST00000394688,;BRD7,missense_variant,p.Lys296Asn,ENST00000394689,;BRD7,downstream_gene_variant,,ENST00000475877,;	893	121	45	SUCCESS
BRD7	29117	.	GRCh37	16	50367609	50367609	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	31	119	0	ENST00000394688.3:c.888-1G>A		p.X296_splice	ENST00000394688		296		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCTGAAA	NONE	.	.	.	.	.	ENSP00000378181	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	7/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,splice_acceptor_variant,,ENST00000394688,;BRD7,splice_acceptor_variant,,ENST00000394689,;BRD7,downstream_gene_variant,,ENST00000475877,;	.	119	44	SUCCESS
AP1G1	164	.	GRCh37	16	71798318	71798318	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	59	229	0	ENST00000299980.4:c.853G>T	p.Gly285Ter	p.G285*	ENST00000299980	NM_001128.5	285	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS45522.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCCTACAT	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,stop_gained,p.Gly285Ter,ENST00000569748,;AP1G1,stop_gained,p.Gly308Ter,ENST00000433195,;AP1G1,stop_gained,p.Gly285Ter,ENST00000299980,;AP1G1,stop_gained,p.Gly288Ter,ENST00000423132,;AP1G1,stop_gained,p.Gly288Ter,ENST00000393512,;AP1G1,stop_gained,p.Gly22Ter,ENST00000566179,;AP1G1,3_prime_UTR_variant,,ENST00000450149,;AP1G1,3_prime_UTR_variant,,ENST00000568327,;AP1G1,3_prime_UTR_variant,,ENST00000565009,;AP1G1,non_coding_transcript_exon_variant,,ENST00000565642,;	1304	229	77	SUCCESS
UNC45B	146862	.	GRCh37	17	33495162	33495162	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	48	220	0	ENST00000268876.5:c.1234C>G	p.Leu412Val	p.L412V	ENST00000268876	NM_173167.2	412	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11292.1	1234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCTGGGC	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Pfam_domain:PF11701,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Leu412Val,ENST00000378449,;UNC45B,missense_variant,p.Leu412Val,ENST00000433649,;UNC45B,missense_variant,p.Leu412Val,ENST00000268876,;UNC45B,missense_variant,p.Leu412Val,ENST00000591048,;UNC45B,missense_variant,p.Leu412Val,ENST00000394570,;RP11-799D4.3,upstream_gene_variant,,ENST00000585646,;	1331	220	108	SUCCESS
KRTAP4-6	81871	.	GRCh37	17	39296198	39296198	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	60	284	0	ENST00000345847.4:c.542A>T	p.His181Leu	p.H181L	ENST00000345847	NM_030976.1	181	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS54125.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTGGCAG	NONE	.	.	hmmpanther:PTHR23262	.	.	ENSP00000328270	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000345847	Transcript	.	.	ENSG00000198090	18909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	KRA46_HUMAN	KRTAP4-6	HGNC	.	.	UPI00006C17B9	SNV	KRTAP4-6,missense_variant,p.His181Leu,ENST00000345847,;	542	285	159	SUCCESS
EMILIN2	84034	.	GRCh37	18	2890914	2890914	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	48	0	ENST00000254528.3:c.789G>T	p.Lys263Asn	p.K263N	ENST00000254528	NM_032048.2	263	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS11828.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAGTCTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5	.	.	ENSP00000254528	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000254528	Transcript	.	.	ENSG00000132205	19881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	tolerated(0.07)	.	EMIL2_HUMAN	EMILIN2	HGNC	.	.	UPI000013CE3E	SNV	EMILIN2,missense_variant,p.Lys263Asn,ENST00000254528,;	948	48	38	SUCCESS
SYT4	6860	.	GRCh37	18	40853607	40853607	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	52	201	0	ENST00000255224.3:c.787G>T	p.Gly263Ter	p.G263*	ENST00000255224	NM_020783.3	263	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS11922.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCCCGAGA	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000255224	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,stop_gained,p.Gly263Ter,ENST00000255224,;SYT4,stop_gained,p.Gly245Ter,ENST00000590752,;SYT4,stop_gained,p.Gly90Ter,ENST00000593720,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,downstream_gene_variant,,ENST00000591820,;SYT4,upstream_gene_variant,,ENST00000589479,;	1156	201	121	SUCCESS
ICAM3	3385	.	GRCh37	19	10449552	10449552	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	90	0	ENST00000160262.5:c.149T>C	p.Phe50Ser	p.F50S	ENST00000160262	NM_002162.3	50	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS12235.1	149	MUTECT|MUSE|VARSCANS	.	TCACAAACAGG	NONE	.	.	hmmpanther:PTHR13771:SF9,hmmpanther:PTHR13771,Pfam_domain:PF03921,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR01472	.	.	ENSP00000160262	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000160262	Transcript	.	.	ENSG00000076662	5346	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.42)	.	ICAM3_HUMAN	ICAM3	HGNC	K7ERN2_HUMAN,K7ERJ4_HUMAN,K7ELH4_HUMAN	.	UPI000013C59C	SNV	ICAM3,missense_variant,p.Phe50Ser,ENST00000160262,;ICAM3,5_prime_UTR_variant,,ENST00000589580,;ICAM3,5_prime_UTR_variant,,ENST00000589261,;ICAM3,5_prime_UTR_variant,,ENST00000589249,;ICAM3,intron_variant,,ENST00000590569,;ICAM3,upstream_gene_variant,,ENST00000592439,;ICAM3,upstream_gene_variant,,ENST00000592945,;ICAM3,non_coding_transcript_exon_variant,,ENST00000587992,;ICAM3,non_coding_transcript_exon_variant,,ENST00000589900,;ICAM3,intron_variant,,ENST00000585439,;	358	90	57	SUCCESS
PSG7	5676	.	GRCh37	19	43430131	43430131	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	37	162	0	ENST00000406070.2:c.1037C>A	p.Ser346Ter	p.S346*	ENST00000406070	NM_002783.2	346	tCa/tAa	0	.	.	.	.	.	T	S/*	polymorphic_pseudogene	YES	.	1037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGAATGG	NONE	.	.	.	.	.	ENSP00000421986	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000406070	Transcript	.	.	ENSG00000221878	9524	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PSG7	HGNC	.	.	.	SNV	PSG7,non_coding_transcript_exon_variant,,ENST00000599226,;PSG7,downstream_gene_variant,,ENST00000599620,;PSG7,stop_gained,p.Ser346Ter,ENST00000406070,;PSG7,stop_gained,p.Ser346Ter,ENST00000446844,;	1134	162	80	SUCCESS
GRIN2D	2906	.	GRCh37	19	48908506	48908506	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	22	0	ENST00000263269.3:c.981G>A	p.Val327=	p.V327=	ENST00000263269	NM_000836.2	327	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12719.1	981	MUTECT|MUSE	.	GTAGTGGCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000263269	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,synonymous_variant,p.%3D,ENST00000263269,;	1069	22	11	SUCCESS
NUP62	23636	.	GRCh37	19	50412103	50412103	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766750131	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	86	0	ENST00000352066.3:c.962G>A	p.Gly321Glu	p.G321E	ENST00000352066	NM_016553.4	321	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS12788.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCCTGCA	NONE	.	.	hmmpanther:PTHR12084,hmmpanther:PTHR12084:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000471191	.	2/2	.	.	.	.	.	.	.	.	rs766750131	2/2	PASS	ENST00000596217	Transcript	1	.	ENSG00000213024	8066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.28)	.	NUP62_HUMAN	NUP62	HGNC	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN	.	UPI000013EAFD	SNV	NUP62,missense_variant,p.Gly321Glu,ENST00000413454,;NUP62,missense_variant,p.Gly321Glu,ENST00000422090,;NUP62,missense_variant,p.Gly321Glu,ENST00000596217,;NUP62,missense_variant,p.Gly321Glu,ENST00000352066,;NUP62,missense_variant,p.Gly321Glu,ENST00000597029,;IL4I1,intron_variant,,ENST00000597295,;NUP62,intron_variant,,ENST00000597723,;IL4I1,intron_variant,,ENST00000596011,;IL4I1,intron_variant,,ENST00000596022,;IL4I1,intron_variant,,ENST00000341114,;IL4I1,intron_variant,,ENST00000595948,;NUP62,downstream_gene_variant,,ENST00000595761,;NUP62,downstream_gene_variant,,ENST00000596437,;NUP62,downstream_gene_variant,,ENST00000599788,;NUP62,downstream_gene_variant,,ENST00000596680,;NUP62,downstream_gene_variant,,ENST00000600645,;NUP62,downstream_gene_variant,,ENST00000600935,;NUP62,downstream_gene_variant,,ENST00000594673,;NUP62,downstream_gene_variant,,ENST00000593652,;NUP62,downstream_gene_variant,,ENST00000599567,;NUP62,downstream_gene_variant,,ENST00000599830,;NUP62,downstream_gene_variant,,ENST00000599560,;NUP62,downstream_gene_variant,,ENST00000601665,;NUP62,downstream_gene_variant,,ENST00000600583,;NUP62,downstream_gene_variant,,ENST00000597814,;NUP62,downstream_gene_variant,,ENST00000595463,;NUP62,downstream_gene_variant,,ENST00000595373,;NUP62,downstream_gene_variant,,ENST00000599186,;NUP62,downstream_gene_variant,,ENST00000598301,;IL4I1,intron_variant,,ENST00000601717,;CTC-326K19.6,downstream_gene_variant,,ENST00000451973,;	2850	86	34	SUCCESS
ZNF835	90485	.	GRCh37	19	57175497	57175497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	119	0	ENST00000537055.2:c.1070C>A	p.Thr357Asn	p.T357N	ENST00000537055	NM_001005850.2	357	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS56105.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGGTGTGC	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.05)	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,missense_variant,p.Thr357Asn,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1302	119	62	SUCCESS
PEG3	5178	.	GRCh37	19	57326944	57326944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	269	0	ENST00000326441.9:c.2866C>A	p.Pro956Thr	p.P956T	ENST00000326441	NM_006210.2	956	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12948.1	2866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGCAGAG	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.4)	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,missense_variant,p.Pro956Thr,ENST00000423103,;PEG3,missense_variant,p.Pro956Thr,ENST00000599577,;PEG3,missense_variant,p.Pro956Thr,ENST00000599534,;PEG3,missense_variant,p.Pro832Thr,ENST00000598410,;PEG3,missense_variant,p.Pro956Thr,ENST00000326441,;PEG3,missense_variant,p.Pro830Thr,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	3230	269	112	SUCCESS
AZU1	566	.	GRCh37	19	828354	828354	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	87	0	ENST00000233997.2:c.183C>G	p.Phe61Leu	p.F61L	ENST00000233997	NM_001700.3	61	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS12044.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTCGTGAT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF10,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000233997	.	2/5	.	.	.	.	.	.	.	.	COSM2730128	2/5	PASS	ENST00000233997	Transcript	.	.	ENSG00000172232	913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.6)	.	deleterious(0.03)	1	CAP7_HUMAN	AZU1	HGNC	.	.	UPI0000126ECD	SNV	AZU1,missense_variant,p.Phe61Leu,ENST00000233997,;AZU1,non_coding_transcript_exon_variant,,ENST00000592205,;	204	87	45	SUCCESS
MUC16	94025	.	GRCh37	19	9087298	9087298	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	145	0	ENST00000397910.4:c.4517C>T	p.Thr1506Ile	p.T1506I	ENST00000397910	NM_024690.2	1506	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS54212.1	4517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGTATCT	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr1506Ile,ENST00000397910,;	4721	145	62	SUCCESS
CD1E	913	.	GRCh37	1	158325760	158325760	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	59	303	0	ENST00000368167.3:c.769G>A	p.Gly257Arg	p.G257R	ENST00000368167	NM_030893.3	257	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS41417.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGAGGGGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000357149	.	4/6	.	.	.	.	.	.	.	.	COSM319333	4/6	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.82)	.	deleterious(0.02)	1	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,missense_variant,p.Gly27Arg,ENST00000368162,;CD1E,missense_variant,p.Gly167Arg,ENST00000368165,;CD1E,missense_variant,p.Gly255Arg,ENST00000434258,;CD1E,missense_variant,p.Gly68Arg,ENST00000368166,;CD1E,missense_variant,p.Gly158Arg,ENST00000444681,;CD1E,missense_variant,p.Gly257Arg,ENST00000368161,;CD1E,missense_variant,p.Gly257Arg,ENST00000368160,;CD1E,missense_variant,p.Gly257Arg,ENST00000368167,;CD1E,missense_variant,p.Gly167Arg,ENST00000368156,;CD1E,missense_variant,p.Gly68Arg,ENST00000368164,;CD1E,missense_variant,p.Gly68Arg,ENST00000452291,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	1008	303	217	SUCCESS
RGS4	5999	.	GRCh37	1	163042190	163042190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	88	0	ENST00000367909.6:c.50A>G	p.Lys17Arg	p.K17R	ENST00000367909	NM_005613.5	17	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44270.1	341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAAAGATA	NONE	.	.	hmmpanther:PTHR10845:SF40,hmmpanther:PTHR10845	.	.	ENSP00000397181	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.02)	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,missense_variant,p.Lys17Arg,ENST00000367908,;RGS4,missense_variant,p.Lys17Arg,ENST00000367909,;RGS4,missense_variant,p.Lys17Arg,ENST00000531057,;RGS4,missense_variant,p.Lys114Arg,ENST00000421743,;RGS4,5_prime_UTR_variant,,ENST00000528938,;RGS4,5_prime_UTR_variant,,ENST00000367906,;RGS4,5_prime_UTR_variant,,ENST00000527809,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,non_coding_transcript_exon_variant,,ENST00000533019,;RGS4,non_coding_transcript_exon_variant,,ENST00000527393,;	501	88	66	SUCCESS
RFWD2	0	.	GRCh37	1	175958553	175958553	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	41	204	1	ENST00000367669.3:c.1792C>T	p.His598Tyr	p.H598Y	ENST00000367669	NM_022457.5	598	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS30944.1	1792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTGTCCTT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356641	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.His574Tyr,ENST00000308769,;RFWD2,missense_variant,p.His433Tyr,ENST00000367666,;RFWD2,missense_variant,p.His598Tyr,ENST00000367669,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2307	205	177	SUCCESS
AHDC1	27245	.	GRCh37	1	27876275	27876275	+	synonymous_variant	Silent	SNP	G	G	A	rs200498435	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	92	0	ENST00000247087.5:c.2352C>T	p.Gly784=	p.G784=	ENST00000247087		784	ggC/ggT	0	A:0	A:0	.	A:0.0014	.	A	G	protein_coding	YES	CCDS30652.1	2352	MUTECT|MUSE	.	TGTCCGCCTGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	A:0	A:0.0001	ENSP00000363123	A:0	6/7	.	.	.	.	.	.	.	.	rs200498435	6/7	PASS	ENST00000374011	Transcript	.	A:0.0002	ENSG00000126705	25230	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	SNV	AHDC1,synonymous_variant,p.%3D,ENST00000247087,;AHDC1,synonymous_variant,p.%3D,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	3321	92	45	SUCCESS
DLGAP3	58512	.	GRCh37	1	35334624	35334624	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	86	0	ENST00000235180.4:c.2067C>T	p.Gly689=	p.G689=	ENST00000235180	NM_001080418.1	689	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30670.1	2067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGCCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12353:SF4,hmmpanther:PTHR12353,Pfam_domain:PF03359	.	.	ENSP00000362444	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000373347	Transcript	.	.	ENSG00000116544	30368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLGP3_HUMAN	DLGAP3	HGNC	B4DH33_HUMAN	.	UPI00003D4D81	SNV	DLGAP3,synonymous_variant,p.%3D,ENST00000373347,;DLGAP3,synonymous_variant,p.%3D,ENST00000235180,;	2336	86	49	SUCCESS
RLF	6018	.	GRCh37	1	40705106	40705106	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	104	0	ENST00000372771.4:c.4732A>G	p.Ser1578Gly	p.S1578G	ENST00000372771	NM_012421.3	1578	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS448.1	4732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTAGTGCC	NONE	.	.	hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507	.	.	ENSP00000361857	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372771	Transcript	.	.	ENSG00000117000	10025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	tolerated(0.61)	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,missense_variant,p.Ser1578Gly,ENST00000372771,;	4759	104	40	SUCCESS
MRPL37	51253	.	GRCh37	1	54681856	54681856	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369065705	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	6	324	0	ENST00000360840.5:c.1033G>A	p.Val345Met	p.V345M	ENST00000360840	NM_016491.3	345	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS589.1	1033	MUTECT|MUSE	.	AGAGCGTGGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15889,hmmpanther:PTHR15889:SF1,Pfam_domain:PF07147	.	A:0.0001	ENSP00000354086	.	6/7	.	.	.	.	.	.	.	.	rs369065705,COSM191756	6/7	PASS	ENST00000360840	Transcript	.	.	ENSG00000116221	14034	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.629)	.	deleterious(0)	0,1	RM37_HUMAN	MRPL37	HGNC	.	.	UPI000006CF76	SNV	MRPL37,missense_variant,p.Val345Met,ENST00000360840,;MRPL37,missense_variant,p.Val214Met,ENST00000336230,;MRPL37,missense_variant,p.Val130Met,ENST00000398219,;MRPL37,missense_variant,p.Val345Met,ENST00000605337,;	1110	324	154	SUCCESS
ABCA4	24	.	GRCh37	1	94502755	94502755	+	synonymous_variant	Silent	SNP	C	C	A	rs147884766	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	119	0	ENST00000370225.3:c.3759G>T	p.Thr1253=	p.T1253=	ENST00000370225	NM_000350.2	1253	acG/acT	0	T:0.0048	T:0.0053	.	T:0.0014	.	A	T	protein_coding	YES	CCDS747.1	3759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	benign	GCCAGCGTCTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	T:0	T:0.0002	ENSP00000359245	T:0	25/50	.	.	.	.	.	.	.	.	rs147884766,COSM1503867	25/50	PASS	ENST00000370225	Transcript	.	T:0.0016	ENSG00000198691	34	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	T:0	.	0,1	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,synonymous_variant,p.%3D,ENST00000370225,;	3846	119	69	SUCCESS
E2F1	1869	.	GRCh37	20	32265257	32265257	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	167	0	ENST00000343380.5:c.815A>T	p.Gln272Leu	p.Q272L	ENST00000343380	NM_005225.2	272	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13224.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGGGTC	NONE	.	.	Superfamily_domains:SSF144074,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF21	.	.	ENSP00000345571	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000343380	Transcript	.	.	ENSG00000101412	3113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.554)	.	deleterious(0.01)	.	E2F1_HUMAN	E2F1	HGNC	.	.	UPI000002EDEC	SNV	E2F1,missense_variant,p.Gln272Leu,ENST00000343380,;NECAB3,upstream_gene_variant,,ENST00000439478,;NECAB3,upstream_gene_variant,,ENST00000606690,;NECAB3,upstream_gene_variant,,ENST00000246190,;NECAB3,upstream_gene_variant,,ENST00000375238,;RP1-63M2.5,downstream_gene_variant,,ENST00000606866,;NECAB3,upstream_gene_variant,,ENST00000606699,;NECAB3,upstream_gene_variant,,ENST00000493590,;NECAB3,upstream_gene_variant,,ENST00000485399,;NECAB3,upstream_gene_variant,,ENST00000484824,;NECAB3,upstream_gene_variant,,ENST00000607055,;NECAB3,upstream_gene_variant,,ENST00000607805,;NECAB3,upstream_gene_variant,,ENST00000488489,;	955	167	100	SUCCESS
LBP	3929	.	GRCh37	20	36974925	36974925	+	synonymous_variant	Silent	SNP	G	G	A	rs1439501010	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	71	0	ENST00000217407.2:c.6G>A	p.Gly2=	p.G2=	ENST00000217407	NM_004139.3	2	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13304.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGGGCCTT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43	.	.	ENSP00000217407	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000217407	Transcript	.	.	ENSG00000129988	6517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBP_HUMAN	LBP	HGNC	.	.	UPI000013C728	SNV	LBP,synonymous_variant,p.%3D,ENST00000217407,;	167	71	51	SUCCESS
NCOA3	8202	.	GRCh37	20	46275954	46275954	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	46	166	0	ENST00000371998.3:c.3390A>G	p.Gly1130=	p.G1130=	ENST00000371998		1130	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS13407.1	3390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGACAATC	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,synonymous_variant,p.%3D,ENST00000371997,;NCOA3,synonymous_variant,p.%3D,ENST00000372004,;NCOA3,synonymous_variant,p.%3D,ENST00000341724,;NCOA3,synonymous_variant,p.%3D,ENST00000371998,;	3581	166	82	SUCCESS
DSCAM	1826	.	GRCh37	21	41455834	41455834	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	122	0	ENST00000400454.1:c.4231+1G>C		p.X1411_splice	ENST00000400454	NM_001271534.1	1411		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42929.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTACCTCTG	NONE	.	.	.	.	.	ENSP00000383303	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	HIGH	24/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,splice_donor_variant,,ENST00000404019,;DSCAM,splice_donor_variant,,ENST00000400454,;	.	122	76	SUCCESS
DSCAM	1826	.	GRCh37	21	41455835	41455835	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	124	0	ENST00000400454.1:c.4231G>T	p.Gly1411Ter	p.G1411*	ENST00000400454	NM_001271534.1	1411	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS42929.1	4231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACCTCTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000383303	.	24/33	.	.	.	.	.	.	.	.	.	24/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,stop_gained,p.Gly1163Ter,ENST00000404019,;DSCAM,stop_gained,p.Gly1411Ter,ENST00000400454,;	4709	124	76	SUCCESS
NEB	4703	.	GRCh37	2	152534626	152534626	+	synonymous_variant	Silent	SNP	G	G	A	rs777827277	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	85	344	0	ENST00000172853.10:c.3331C>T	p.Leu1111=	p.L1111=	ENST00000172853		1111	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54407.1	3331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAGTTTAG	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	33/182	.	.	.	.	.	.	.	.	rs777827277	33/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,synonymous_variant,p.%3D,ENST00000603639,;NEB,synonymous_variant,p.%3D,ENST00000172853,;NEB,synonymous_variant,p.%3D,ENST00000427231,;NEB,synonymous_variant,p.%3D,ENST00000397345,;NEB,synonymous_variant,p.%3D,ENST00000604864,;NEB,synonymous_variant,p.%3D,ENST00000409198,;	3534	344	201	SUCCESS
FMNL2	114793	.	GRCh37	2	153435453	153435453	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	107	0	ENST00000288670.9:c.757C>G	p.Leu253Val	p.L253V	ENST00000288670	NM_052905.3	253	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS46429.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCACTAAGC	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06371,Superfamily_domains:SSF48371	.	.	ENSP00000288670	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.743)	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,missense_variant,p.Leu253Val,ENST00000288670,;FMNL2,non_coding_transcript_exon_variant,,ENST00000492942,;	1124	107	46	SUCCESS
LRP2	4036	.	GRCh37	2	170103365	170103365	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781041064	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	243	0	ENST00000263816.3:c.3040G>A	p.Glu1014Lys	p.E1014K	ENST00000263816	NM_004525.2	1014	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2232.1	3040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCGCATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,SMART_domains:SM00181	.	.	ENSP00000263816	.	21/79	.	.	.	.	.	.	.	.	rs781041064	21/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Glu1014Lys,ENST00000263816,;LRP2,missense_variant,p.Glu877Lys,ENST00000443831,;	3326	243	134	SUCCESS
C2orf88	84281	.	GRCh37	2	191064868	191064868	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	209	0	ENST00000340623.4:c.282G>A	p.Gly94=	p.G94=	ENST00000340623	NM_001042519.1	94	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42792.1	282	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGCCTTG	NONE	.	.	Pfam_domain:PF15127	.	.	ENSP00000345107	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340623	Transcript	.	.	ENSG00000187699	28191	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMAKA_HUMAN	C2orf88	HGNC	H7BZ15_HUMAN,C9JS57_HUMAN	.	UPI000013D122	SNV	C2orf88,synonymous_variant,p.%3D,ENST00000409870,;C2orf88,synonymous_variant,p.%3D,ENST00000443551,;C2orf88,synonymous_variant,p.%3D,ENST00000396974,;C2orf88,synonymous_variant,p.%3D,ENST00000340623,;HIBCH,intron_variant,,ENST00000399855,;HIBCH,downstream_gene_variant,,ENST00000359678,;HIBCH,downstream_gene_variant,,ENST00000392332,;C2orf88,downstream_gene_variant,,ENST00000450357,;C2orf88,downstream_gene_variant,,ENST00000409545,;HIBCH,downstream_gene_variant,,ENST00000410045,;HIBCH,downstream_gene_variant,,ENST00000486981,;C2orf88,downstream_gene_variant,,ENST00000490033,;	693	209	116	SUCCESS
UNC80	285175	.	GRCh37	2	210837964	210837964	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	176	0	ENST00000439458.1:c.8359G>A	p.Ala2787Thr	p.A2787T	ENST00000439458	NM_032504.1	2787	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46504.1	8359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGCTGAG	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	55/64	.	.	.	.	.	.	.	.	.	55/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Ala2787Thr,ENST00000439458,;UNC80,missense_variant,p.Ala2782Thr,ENST00000272845,;UNC80,missense_variant,p.Ala233Thr,ENST00000539183,;UNC80,missense_variant,p.Ala313Thr,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;UNC80,downstream_gene_variant,,ENST00000489023,;	8439	176	92	SUCCESS
MARCH4	0	.	GRCh37	2	217124210	217124210	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs973671685	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	153	0	ENST00000273067.4:c.1058G>A	p.Gly353Asp	p.G353D	ENST00000273067	NM_020814.2	353	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33376.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGCCTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23012:SF51,hmmpanther:PTHR23012	.	.	ENSP00000273067	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000273067	Transcript	.	.	ENSG00000144583	29269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.05)	.	MARH4_HUMAN	MARCH4	HGNC	.	.	UPI00001C1DB9	SNV	MARCH4,missense_variant,p.Gly353Asp,ENST00000273067,;AC012513.6,upstream_gene_variant,,ENST00000417481,;	2825	153	89	SUCCESS
CHRND	1144	.	GRCh37	2	233400022	233400022	+	stop_lost	Nonstop_Mutation	SNP	G	G	T	rs780761579	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	58	0	ENST00000258385.3:c.1554G>T	p.Ter518TyrextTer13	p.*518Yext*13	ENST00000258385	NM_000751.2	518	taG/taT	0	.	.	.	.	.	T	*/Y	protein_coding	YES	CCDS2494.1	1554	MUTECT|MUSE	.	ATCTAGGGTGG	NONE	.	.	.	.	.	ENSP00000258385	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000258385	Transcript	.	.	ENSG00000135902	1965	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHD_HUMAN	CHRND	HGNC	.	.	UPI000012525E	SNV	CHRND,stop_lost,p.Ter324TyrextTer13,ENST00000457943,;CHRND,stop_lost,p.Ter518TyrextTer13,ENST00000258385,;CHRND,stop_lost,p.Ter503TyrextTer13,ENST00000543200,;CHRNG,upstream_gene_variant,,ENST00000389494,;CHRND,downstream_gene_variant,,ENST00000536614,;CHRNG,upstream_gene_variant,,ENST00000389492,;CHRND,3_prime_UTR_variant,,ENST00000441621,;CHRND,3_prime_UTR_variant,,ENST00000446616,;CHRNG,upstream_gene_variant,,ENST00000485094,;CHRND,downstream_gene_variant,,ENST00000412233,;	1586	58	51	SUCCESS
NDUFAF7	55471	.	GRCh37	2	37464985	37464985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	56	0	ENST00000002125.4:c.383G>A	p.Gly128Glu	p.G128E	ENST00000002125	NM_144736.4	128	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS1788.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGGAACCC	NONE	.	.	hmmpanther:PTHR12049,hmmpanther:PTHR12049:SF5,Pfam_domain:PF02636,Superfamily_domains:SSF53335	.	.	ENSP00000002125	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000002125	Transcript	.	.	ENSG00000003509	28816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NDUF7_HUMAN	NDUFAF7	HGNC	C9JS27_HUMAN,C9JP36_HUMAN,C9JEL7_HUMAN,C9J236_HUMAN	.	UPI000004A041	SNV	NDUFAF7,missense_variant,p.Gly49Glu,ENST00000431821,;NDUFAF7,missense_variant,p.Gly86Glu,ENST00000439218,;NDUFAF7,missense_variant,p.Gly128Glu,ENST00000002125,;NDUFAF7,missense_variant,p.Gly86Glu,ENST00000416653,;NDUFAF7,missense_variant,p.Gly86Glu,ENST00000432075,;NDUFAF7,missense_variant,p.Gly101Glu,ENST00000336237,;NDUFAF7,splice_region_variant,,ENST00000483999,;NDUFAF7,splice_region_variant,,ENST00000455230,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474154,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000469831,;NDUFAF7,upstream_gene_variant,,ENST00000474257,;	423	56	33	SUCCESS
PPM1B	5495	.	GRCh37	2	44436409	44436409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	56	0	ENST00000282412.4:c.907G>A	p.Asp303Asn	p.D303N	ENST00000282412	NM_002706.4	303	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1817.1	907	RADIA|MUSE	.	TCTCAGATGAA	NONE	.	.	hmmpanther:PTHR13832:SF244,hmmpanther:PTHR13832,Pfam_domain:PF07830,Gene3D:3.60.40.10,Superfamily_domains:0034913	.	.	ENSP00000282412	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000282412	Transcript	.	.	ENSG00000138032	9276	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.088)	.	tolerated(0.09)	.	PPM1B_HUMAN	PPM1B	HGNC	C9JIR6_HUMAN	.	UPI0000130FE7	SNV	PPM1B,missense_variant,p.Asp303Asn,ENST00000409432,;PPM1B,missense_variant,p.Asp303Asn,ENST00000409895,;PPM1B,missense_variant,p.Asp228Asn,ENST00000409473,;PPM1B,missense_variant,p.Asp303Asn,ENST00000419807,;PPM1B,missense_variant,p.Asp303Asn,ENST00000282412,;PPM1B,missense_variant,p.Asp16Asn,ENST00000345249,;PPM1B,missense_variant,p.Asp303Asn,ENST00000378551,;PPM1B,non_coding_transcript_exon_variant,,ENST00000487286,;PPM1B,non_coding_transcript_exon_variant,,ENST00000378540,;PPM1B,intron_variant,,ENST00000459690,;PPM1B,non_coding_transcript_exon_variant,,ENST00000409486,;	1319	56	25	SUCCESS
ZNF638	27332	.	GRCh37	2	71592804	71592804	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	184	0	ENST00000264447.4:c.1963G>T	p.Val655Leu	p.V655L	ENST00000264447	NM_001014972.2	655	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1917.1	1963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGGTGTCT	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.23)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Val83Leu,ENST00000601581,;ZNF638,missense_variant,p.Val655Leu,ENST00000409544,;ZNF638,missense_variant,p.Val655Leu,ENST00000264447,;ZNF638,missense_variant,p.Val655Leu,ENST00000377802,;ZNF638,missense_variant,p.Val655Leu,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,non_coding_transcript_exon_variant,,ENST00000494621,;ZNF638,downstream_gene_variant,,ENST00000466975,;ZNF638,downstream_gene_variant,,ENST00000464375,;ZNF638,downstream_gene_variant,,ENST00000466330,;ZNF638,downstream_gene_variant,,ENST00000475743,;	2593	184	107	SUCCESS
ALMS1	7840	.	GRCh37	2	73716837	73716837	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	109	0	ENST00000264448.6:c.7748A>G	p.Lys2583Arg	p.K2583R	ENST00000264448	NM_015120.4	2583	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS42697.1	7748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAAGGGAT	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Lys2541Arg,ENST00000409009,;ALMS1,missense_variant,p.Lys2583Arg,ENST00000264448,;AC096546.1,upstream_gene_variant,,ENST00000408160,;ALMS1,missense_variant,p.Lys861Arg,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	7859	109	47	SUCCESS
MSL2	55167	.	GRCh37	3	135914128	135914128	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000309993.2:c.-173G>A		p.*58*	ENST00000309993	NM_018133.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33861.1	.	RADIA|MUTECT|MUSE	.	ATCCTCCCACA	NONE	.	.	.	.	.	ENSP00000311827	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000309993	Transcript	.	.	ENSG00000174579	25544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSL2_HUMAN	MSL2	HGNC	C9J5S2_HUMAN,C9IZG7_HUMAN,C9IZ03_HUMAN	.	UPI000020A2D7	SNV	MSL2,5_prime_UTR_variant,,ENST00000309993,;MSL2,intron_variant,,ENST00000491050,;MSL2,intron_variant,,ENST00000473093,;MSL2,intron_variant,,ENST00000481989,;MSL2,upstream_gene_variant,,ENST00000434835,;	561	11	12	SUCCESS
NLGN1	22871	.	GRCh37	3	173997373	173997373	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	82	291	0	ENST00000457714.1:c.1582T>G	p.Phe528Val	p.F528V	ENST00000457714	NM_014932.3	528	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS3222.1	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATTTCTCC	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Phe568Val,ENST00000401917,;NLGN1,missense_variant,p.Phe528Val,ENST00000457714,;NLGN1,missense_variant,p.Phe528Val,ENST00000361589,;NLGN1,missense_variant,p.Phe528Val,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000490929,;NLGN1,downstream_gene_variant,,ENST00000469727,;	2011	291	181	SUCCESS
MASP1	5648	.	GRCh37	3	186938875	186938875	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	55	178	0	ENST00000337774.5:c.1857C>T	p.Ala619=	p.A619=	ENST00000337774	NM_001879.5	619	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	.	CCDS33907.1	1857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGGGCATA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000336792	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000337774	Transcript	.	.	ENSG00000127241	6901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MASP1_HUMAN	MASP1	HGNC	C9JLU5_HUMAN	.	UPI0000161FB8	SNV	MASP1,synonymous_variant,p.%3D,ENST00000337774,;	2247	178	121	SUCCESS
EDEM1	9695	.	GRCh37	3	5252876	5252876	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs148682616	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	140	0	ENST00000256497.4:c.1655G>C	p.Ser552Thr	p.S552T	ENST00000256497	NM_014674.2	552	aGt/aCt	0	.	A:0.0008	.	A:0	.	C	S/T	protein_coding	YES	CCDS33686.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAGTGAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF25,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225,Prints_domain:PR00747	A:0	.	ENSP00000256497	A:0	10/12	.	.	.	.	.	.	.	.	rs148682616	10/12	PASS	ENST00000256497	Transcript	.	A:0.0002	ENSG00000134109	18967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	A:0	deleterious(0)	.	EDEM1_HUMAN	EDEM1	HGNC	.	.	UPI0000040633	SNV	EDEM1,missense_variant,p.Ser357Thr,ENST00000445686,;EDEM1,missense_variant,p.Ser552Thr,ENST00000256497,;EDEM1,non_coding_transcript_exon_variant,,ENST00000465369,;EDEM1,downstream_gene_variant,,ENST00000434243,;	1788	140	69	SUCCESS
TLR2	7097	.	GRCh37	4	154625449	154625449	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	136	0	ENST00000260010.6:c.1390G>A	p.Val464Ile	p.V464I	ENST00000260010	NM_003264.3	464	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS3784.1	1390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATGTTAGC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF17,hmmpanther:PTHR24365,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,SMART_domains:SM00364,Superfamily_domains:SSF52047	.	.	ENSP00000260010	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000260010	Transcript	1	.	ENSG00000137462	11848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.22)	.	TLR2_HUMAN	TLR2	HGNC	K9MV98_HUMAN,C6KIA6_HUMAN	.	UPI0000137051	SNV	TLR2,missense_variant,p.Val464Ile,ENST00000260010,;	2798	136	92	SUCCESS
RHOH	399	.	GRCh37	4	40245536	40245536	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1244021714	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	188	0	ENST00000381799.5:c.530G>A	p.Arg177Gln	p.R177Q	ENST00000381799	NM_004310.4	177	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3458.1	530	MUTECT|MUSE|VARSCANS	.	GAGACGAAACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24072:SF12,hmmpanther:PTHR24072,Gene3D:3.40.50.300	.	.	ENSP00000371219	.	3/3	.	.	.	.	.	.	.	.	COSM187728	3/3	PASS	ENST00000381799	Transcript	1	.	ENSG00000168421	686	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.001)	.	tolerated(0.45)	1	RHOH_HUMAN	RHOH	HGNC	Q6ICP4_HUMAN,D6RG23_HUMAN,D6RA52_HUMAN	.	UPI0000133892	SNV	RHOH,missense_variant,p.Arg177Gln,ENST00000505618,;RHOH,missense_variant,p.Arg177Gln,ENST00000381799,;RHOH,downstream_gene_variant,,ENST00000503941,;RHOH,downstream_gene_variant,,ENST00000508513,;RHOH,downstream_gene_variant,,ENST00000507851,;RHOH,downstream_gene_variant,,ENST00000511121,;RHOH,downstream_gene_variant,,ENST00000504638,;RHOH,downstream_gene_variant,,ENST00000515503,;RHOH,downstream_gene_variant,,ENST00000515702,;RHOH,downstream_gene_variant,,ENST00000511967,;RHOH,downstream_gene_variant,,ENST00000503754,;RHOH,downstream_gene_variant,,ENST00000515718,;RHOH,downstream_gene_variant,,ENST00000513894,;RHOH,downstream_gene_variant,,ENST00000503978,;	1254	188	88	SUCCESS
PGGT1B	5229	.	GRCh37	5	114548112	114548112	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748433127	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	44	267	0	ENST00000419445.1:c.1121A>G	p.His374Arg	p.H374R	ENST00000419445	NM_005023.3	374	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS4116.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATGTACA	NONE	.	.	hmmpanther:PTHR11774:SF4,hmmpanther:PTHR11774,Gene3D:1.50.10.20	.	.	ENSP00000404676	.	9/9	.	.	.	.	.	.	.	.	rs748433127	9/9	PASS	ENST00000419445	Transcript	.	.	ENSG00000164219	8895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.16)	.	PGTB1_HUMAN	PGGT1B	HGNC	.	.	UPI00001AEC1C	SNV	PGGT1B,missense_variant,p.His374Arg,ENST00000419445,;PGGT1B,missense_variant,p.His297Arg,ENST00000379615,;PGGT1B,downstream_gene_variant,,ENST00000296642,;PGGT1B,downstream_gene_variant,,ENST00000514178,;	1142	267	133	SUCCESS
EGFLAM	133584	.	GRCh37	5	38337733	38337733	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	116	0	ENST00000354891.3:c.207+2T>C		p.X69_splice	ENST00000354891	NM_001205301.1	69		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56363.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTGAGTA	NONE	.	.	.	.	.	ENSP00000346964	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	HIGH	2/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,splice_donor_variant,,ENST00000354891,;EGFLAM,splice_donor_variant,,ENST00000322350,;EGFLAM,splice_donor_variant,,ENST00000504709,;	.	116	51	SUCCESS
SLC30A5	64924	.	GRCh37	5	68390024	68390024	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	24	0	ENST00000396591.3:c.-59C>T		p.*20*	ENST00000396591	NM_022902.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3996.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGCAGCGGCGA	NONE	.	.	.	.	.	ENSP00000379836	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000396591	Transcript	.	.	ENSG00000145740	19089	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZNT5_HUMAN	SLC30A5	HGNC	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN	.	UPI0000073958	SNV	SLC30A5,5_prime_UTR_variant,,ENST00000396591,;SLC30A5,5_prime_UTR_variant,,ENST00000380860,;SLC30A5,5_prime_UTR_variant,,ENST00000504103,;SLC30A5,upstream_gene_variant,,ENST00000502979,;	552	24	16	SUCCESS
PAK1IP1	55003	.	GRCh37	6	10702604	10702604	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs751776397	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	93	0	ENST00000379568.3:c.250A>G	p.Thr84Ala	p.T84A	ENST00000379568	NM_017906.2	84	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS34339.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTACAATA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF345,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000368887	.	3/10	.	.	.	.	.	.	.	.	rs751776397	3/10	PASS	ENST00000379568	Transcript	.	.	ENSG00000111845	20882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.545)	.	deleterious(0)	.	PK1IP_HUMAN	PAK1IP1	HGNC	.	.	UPI000013CB73	SNV	PAK1IP1,missense_variant,p.Thr84Ala,ENST00000379568,;	541	93	69	SUCCESS
MDC1	9656	.	GRCh37	6	30680046	30680046	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	39	213	0	ENST00000376406.3:c.1673del	p.Gly558AspfsTer10	p.G558Dfs*10	ENST00000376406	NM_014641.2	558	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS34384.1	1673	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGTCCCCCA	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	deletion	MDC1,frameshift_variant,p.Gly558AspfsTer10,ENST00000376405,;MDC1,frameshift_variant,p.Gly558AspfsTer10,ENST00000376406,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,downstream_gene_variant,,ENST00000425072,;MDC1,upstream_gene_variant,,ENST00000417033,;MDC1,downstream_gene_variant,,ENST00000416571,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000492462,;	2321	213	221	SUCCESS
FLOT1	10211	.	GRCh37	6	30707949	30707949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	85	0	ENST00000376389.3:c.709G>T	p.Ala237Ser	p.A237S	ENST00000376389	NM_005803.2	237	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS4688.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGCCAGGT	NONE	.	.	hmmpanther:PTHR13806:SF18,hmmpanther:PTHR13806,SMART_domains:SM00244	.	.	ENSP00000365569	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000376389	Transcript	.	.	ENSG00000137312	3757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.27)	.	tolerated(0.06)	.	FLOT1_HUMAN	FLOT1	HGNC	Q5ST80_HUMAN,A2AB13_HUMAN,A2AB12_HUMAN,A2AB10_HUMAN	.	UPI000000D73F	SNV	FLOT1,missense_variant,p.Ala237Ser,ENST00000376389,;FLOT1,missense_variant,p.Ala174Ser,ENST00000413165,;FLOT1,missense_variant,p.Ala237Ser,ENST00000438162,;FLOT1,missense_variant,p.Ala142Ser,ENST00000418160,;FLOT1,missense_variant,p.Ala189Ser,ENST00000456573,;IER3,downstream_gene_variant,,ENST00000259874,;FLOT1,downstream_gene_variant,,ENST00000454845,;FLOT1,downstream_gene_variant,,ENST00000445853,;FLOT1,downstream_gene_variant,,ENST00000416018,;IER3,downstream_gene_variant,,ENST00000376377,;Y_RNA,upstream_gene_variant,,ENST00000365118,;XXbac-BPG252P9.10,upstream_gene_variant,,ENST00000607333,;FLOT1,non_coding_transcript_exon_variant,,ENST00000470643,;FLOT1,non_coding_transcript_exon_variant,,ENST00000487376,;FLOT1,non_coding_transcript_exon_variant,,ENST00000476729,;FLOT1,downstream_gene_variant,,ENST00000484693,;FLOT1,downstream_gene_variant,,ENST00000484168,;	930	85	78	SUCCESS
PACSIN1	29993	.	GRCh37	6	34494040	34494040	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	62	0	ENST00000244458.2:c.-43C>A		p.*15*	ENST00000244458				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4793.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCTAACC	NONE	.	.	.	.	.	ENSP00000439639	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000538621	Transcript	.	.	ENSG00000124507	8570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PACN1_HUMAN	PACSIN1	HGNC	Q5TZC3_HUMAN,F6U236_HUMAN	.	UPI000000D983	SNV	PACSIN1,5_prime_UTR_variant,,ENST00000538621,;PACSIN1,5_prime_UTR_variant,,ENST00000244458,;PACSIN1,5_prime_UTR_variant,,ENST00000374043,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000486120,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000487760,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000493633,;	203	62	47	SUCCESS
UHRF1BP1	54887	.	GRCh37	6	34831811	34831811	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	92	0	ENST00000192788.5:c.3248C>T	p.Ala1083Val	p.A1083V	ENST00000192788	NM_017754.3	1083	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43455.1	3248	RADIA|MUTECT|MUSE	.	GGTGGCAGCCC	NONE	.	.	hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	.	.	ENSP00000192788	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000192788	Transcript	.	.	ENSG00000065060	21216	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.33)	.	URFB1_HUMAN	UHRF1BP1	HGNC	.	.	UPI00001B654C	SNV	UHRF1BP1,missense_variant,p.Ala1083Val,ENST00000192788,;UHRF1BP1,missense_variant,p.Ala1083Val,ENST00000452449,;	3419	92	51	SUCCESS
KIF6	221458	.	GRCh37	6	39554149	39554149	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755557178	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	6	224	0	ENST00000287152.7:c.878C>T	p.Ser293Leu	p.S293L	ENST00000287152	NM_145027.4	293	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS4844.1	878	MUTECT|MUSE	.	TGTGCGAACGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115,PROSITE_profiles:PS50067	.	.	ENSP00000287152	.	8/23	.	.	.	.	.	.	.	.	rs755557178	8/23	PASS	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.052)	.	deleterious(0.04)	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,missense_variant,p.Ser80Leu,ENST00000441975,;KIF6,missense_variant,p.Ser293Leu,ENST00000287152,;KIF6,missense_variant,p.Ser132Leu,ENST00000373213,;KIF6,missense_variant,p.Ser293Leu,ENST00000373215,;KIF6,missense_variant,p.Ser293Leu,ENST00000373216,;KIF6,missense_variant,p.Ser293Leu,ENST00000538893,;KIF6,missense_variant,p.Ser185Leu,ENST00000458470,;	973	224	187	SUCCESS
MRPS10	55173	.	GRCh37	6	42185570	42185570	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	77	0	ENST00000053468.3:c.18G>T	p.Ala6=	p.A6=	ENST00000053468	NM_018141.3	6	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4866.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAACGCTGT	NONE	.	.	hmmpanther:PTHR13334,hmmpanther:PTHR13334:SF4	.	.	ENSP00000053468	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000053468	Transcript	.	.	ENSG00000048544	14502	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT10_HUMAN	MRPS10	HGNC	B4DP77_HUMAN	.	UPI0000135254	SNV	MRPS10,synonymous_variant,p.%3D,ENST00000053468,;	34	78	53	SUCCESS
C6orf223	221416	.	GRCh37	6	43970788	43970788	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	132	0	ENST00000336600.5:c.654G>T	p.Arg218=	p.R218=	ENST00000336600	NM_001171992.1	218	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34459.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGGCTAAT	NONE	.	.	.	.	.	ENSP00000426159	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336600	Transcript	.	.	ENSG00000181577	28692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF223_HUMAN	C6orf223	HGNC	.	.	UPI00001BDAC0	SNV	C6orf223,synonymous_variant,p.%3D,ENST00000336600,;C6orf223,synonymous_variant,p.%3D,ENST00000442114,;C6orf223,3_prime_UTR_variant,,ENST00000439969,;RP5-1120P11.1,intron_variant,,ENST00000422059,;RP5-1120P11.1,intron_variant,,ENST00000607590,;C6orf223,non_coding_transcript_exon_variant,,ENST00000448947,;	674	132	113	SUCCESS
FBXL4	26235	.	GRCh37	6	99374410	99374410	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	42	169	0	ENST00000229971.1:c.455T>G	p.Ile152Ser	p.I152S	ENST00000229971	NM_012160.4	152	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS5041.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAATGACT	NONE	.	.	hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.432)	.	deleterious(0)	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,missense_variant,p.Ile152Ser,ENST00000229971,;FBXL4,missense_variant,p.Ile152Ser,ENST00000369244,;	884	169	58	SUCCESS
CTAGE15	441294	.	GRCh37	7	143270096	143270096	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	608	61	762	0	ENST00000420911.2:c.1186A>C	p.Met396Leu	p.M396L	ENST00000420911	NM_001008747.2	396	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS64788.1	1186	MUTECT|MUSE|VARSCANS	.	ATGAAATGAAA	NONE	.	.	hmmpanther:PTHR23158:SF39,hmmpanther:PTHR23158	.	.	ENSP00000474204	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000420911	Transcript	.	.	ENSG00000271079	37295	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.024)	.	tolerated(0.28)	.	CTGEF_HUMAN	CTAGE15	Uniprot_gn	.	.	UPI0000199821	SNV	CTAGE15,missense_variant,p.Met396Leu,ENST00000420911,;RNU6-162P,upstream_gene_variant,,ENST00000516228,;CTAGE15,non_coding_transcript_exon_variant,,ENST00000447022,;	1203	763	670	SUCCESS
SNX13	23161	.	GRCh37	7	17933019	17933019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	35	203	0	ENST00000428135.3:c.164C>T	p.Ser55Leu	p.S55L	ENST00000428135	NM_015132.4	55	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS47551.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGAGTTT	NONE	.	.	hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26	.	.	ENSP00000398789	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000428135	Transcript	.	.	ENSG00000071189	21335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	tolerated(0.2)	.	SNX13_HUMAN	SNX13	HGNC	B3KN60_HUMAN	.	UPI000002B3E8	SNV	SNX13,missense_variant,p.Ser55Leu,ENST00000428135,;SNX13,missense_variant,p.Ser55Leu,ENST00000409389,;SNX13,missense_variant,p.Ser55Leu,ENST00000409604,;SNX13,non_coding_transcript_exon_variant,,ENST00000475800,;SNX13,non_coding_transcript_exon_variant,,ENST00000498463,;SNX13,non_coding_transcript_exon_variant,,ENST00000474067,;SNX13,non_coding_transcript_exon_variant,,ENST00000494402,;SNX13,downstream_gene_variant,,ENST00000471744,;SNX13,missense_variant,p.Ser55Leu,ENST00000409076,;SNX13,non_coding_transcript_exon_variant,,ENST00000492626,;SNX13,non_coding_transcript_exon_variant,,ENST00000482558,;SNX13,intron_variant,,ENST00000444712,;	363	203	175	SUCCESS
SDK1	221935	.	GRCh37	7	4091349	4091349	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	68	181	0	ENST00000404826.2:c.2798G>A	p.Gly933Glu	p.G933E	ENST00000404826	NM_152744.3	933	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34590.1	2798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGACACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	19/45	.	.	.	.	.	.	.	.	.	19/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	deleterious(0.04)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Gly933Glu,ENST00000404826,;SDK1,missense_variant,p.Gly933Glu,ENST00000389531,;	2937	181	173	SUCCESS
VSTM2A	222008	.	GRCh37	7	54610394	54610394	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs778158827	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	47	264	2	ENST00000407838.3:c.-30A>G		p.*10*	ENST00000407838	NM_182546.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5512.2	.	RADIA|VARSCANS	.	TGGCTACACTG	NONE	.	.	.	.	.	ENSP00000384967	.	1/5	.	.	.	.	.	.	.	.	rs778158827	1/5	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,5_prime_UTR_variant,,ENST00000402026,;VSTM2A,5_prime_UTR_variant,,ENST00000302287,;VSTM2A,5_prime_UTR_variant,,ENST00000402613,;VSTM2A,5_prime_UTR_variant,,ENST00000404951,;VSTM2A,5_prime_UTR_variant,,ENST00000407838,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	377	266	201	SUCCESS
ZNF479	90827	.	GRCh37	7	57188564	57188564	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	82	304	0	ENST00000331162.4:c.558A>T	p.Lys186Asn	p.K186N	ENST00000331162	NM_033273.1	186	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS43590.1	558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACATTTGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0.01)	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,missense_variant,p.Lys186Asn,ENST00000331162,;	829	304	300	SUCCESS
RP1L1	94137	.	GRCh37	8	10464506	10464506	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	23	95	0	ENST00000382483.3:c.7102G>A	p.Glu2368Lys	p.E2368K	ENST00000382483	NM_178857.5	2368	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43708.1	7102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCACTGG	NONE	.	.	hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	.	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Glu2368Lys,ENST00000382483,;	7326	95	30	SUCCESS
TRAPPC9	83696	.	GRCh37	8	141381200	141381200	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760322913	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	89	0	ENST00000438773.2:c.1214C>T	p.Ala405Val	p.A405V	ENST00000438773	NM_001160372.1	405	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34946.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACGCAGAC	NONE	byFrequency	.	Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11	.	.	ENSP00000373979	.	8/23	.	.	.	.	.	.	.	.	rs760322913	8/23	PASS	ENST00000389328	Transcript	1	.	ENSG00000167632	30832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	TPPC9_HUMAN	TRAPPC9	HGNC	.	.	UPI0000DBEF2B	SNV	TRAPPC9,missense_variant,p.Ala249Val,ENST00000520857,;TRAPPC9,missense_variant,p.Ala396Val,ENST00000389327,;TRAPPC9,missense_variant,p.Ala503Val,ENST00000389328,;TRAPPC9,missense_variant,p.Ala405Val,ENST00000438773,;	1523	89	58	SUCCESS
BAI1	0	.	GRCh37	8	143603336	143603336	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761237409	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	80	1	ENST00000323289.5:c.3035C>T	p.Thr1012Met	p.T1012M	ENST00000323289	NM_001702.2	1012	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS64985.1	3035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACGCTGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,PROSITE_profiles:PS50261	.	.	ENSP00000430945	.	21/31	.	.	.	.	.	.	.	.	rs761237409	21/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.02)	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,missense_variant,p.Thr1012Met,ENST00000323289,;BAI1,missense_variant,p.Thr1012Met,ENST00000517894,;BAI1,missense_variant,p.Thr1012Met,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518820,;	3929	81	47	SUCCESS
SCRIB	23513	.	GRCh37	8	144890960	144890960	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	57	0	ENST00000320476.3:c.1934G>A	p.Trp645Ter	p.W645*	ENST00000320476	NM_015356.4	645	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS6412.1	1934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCCAGCCC	NONE	.	.	.	.	.	ENSP00000349486	.	15/37	.	.	.	.	.	.	.	.	.	15/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,stop_gained,p.Trp564Ter,ENST00000377533,;SCRIB,stop_gained,p.Trp645Ter,ENST00000356994,;SCRIB,stop_gained,p.Trp645Ter,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000526832,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	1941	57	43	SUCCESS
EPPK1	83481	.	GRCh37	8	144944289	144944289	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	49	153	0	ENST00000525985.1:c.3133G>A	p.Ala1045Thr	p.A1045T	ENST00000525985	NM_031308.2	1045	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	3133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCACTT	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.Ala1045Thr,ENST00000525985,;	3205	153	135	SUCCESS
CPSF1	29894	.	GRCh37	8	145619449	145619449	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	43	247	0	ENST00000349769.3:c.3811G>T	p.Val1271Leu	p.V1271L	ENST00000349769	NM_013291.2	1271	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS34966.1	3811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACCCAGAA	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2,Pfam_domain:PF03178	.	.	ENSP00000339353	.	33/38	.	.	.	.	.	.	.	.	COSM604545	33/38	PASS	ENST00000349769	Transcript	.	.	ENSG00000071894	2324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.405)	.	deleterious(0.03)	1	CPSF1_HUMAN	CPSF1	HGNC	Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN	.	UPI00001282EE	SNV	CPSF1,missense_variant,p.Val1271Leu,ENST00000349769,;ADCK5,downstream_gene_variant,,ENST00000532190,;ADCK5,downstream_gene_variant,,ENST00000308860,;MIR939,upstream_gene_variant,,ENST00000401314,;CPSF1,splice_region_variant,,ENST00000532935,;CPSF1,intron_variant,,ENST00000531727,;ADCK5,downstream_gene_variant,,ENST00000534714,;ADCK5,downstream_gene_variant,,ENST00000526231,;CPSF1,splice_region_variant,,ENST00000531480,;CPSF1,splice_region_variant,,ENST00000526271,;CPSF1,non_coding_transcript_exon_variant,,ENST00000532725,;ADCK5,downstream_gene_variant,,ENST00000529654,;CPSF1,downstream_gene_variant,,ENST00000527827,;ADCK5,downstream_gene_variant,,ENST00000526833,;ADCK5,downstream_gene_variant,,ENST00000533715,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000527916,;	3906	247	144	SUCCESS
ADRA1A	148	.	GRCh37	8	26614202	26614202	+	intron_variant	Intron	SNP	G	G	C	rs377599583	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	23	119	0	ENST00000380586.1:c.1270-7937C>G		p.*424*	ENST00000380586	NM_033303.3			0	A:0.0007	.	.	.	.	C	.	protein_coding	YES	CCDS34869.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGCAGGA	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000369960	.	.	.	.	.	.	.	.	.	.	rs377599583,COSM2787511	.	PASS	ENST00000380586	Transcript	.	.	ENSG00000120907	277	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ADA1A_HUMAN	ADRA1A	HGNC	Q7KYZ9_HUMAN,B0ZBD3_HUMAN	.	UPI000066DA42	SNV	ADRA1A,missense_variant,p.Cys326Trp,ENST00000380581,;ADRA1A,3_prime_UTR_variant,,ENST00000380582,;ADRA1A,3_prime_UTR_variant,,ENST00000519229,;ADRA1A,intron_variant,,ENST00000380586,;ADRA1A,intron_variant,,ENST00000380587,;ADRA1A,3_prime_UTR_variant,,ENST00000521711,;ADRA1A,intron_variant,,ENST00000519096,;	.	119	34	SUCCESS
RP1	6101	.	GRCh37	8	55542668	55542668	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	86	0	ENST00000220676.1:c.6226T>A	p.Phe2076Ile	p.F2076I	ENST00000220676	NM_006269.1	2076	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS6160.1	6226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATTCCAG	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.429)	.	deleterious(0.02)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Phe2076Ile,ENST00000220676,;	6374	86	64	SUCCESS
ZDHHC21	340481	.	GRCh37	9	14639974	14639974	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	69	0	ENST00000380916.4:c.541A>G	p.Arg181Gly	p.R181G	ENST00000380916	NM_178566.4	181	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6475.1	541	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCTCATTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22883:SF11,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000370303	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000380916	Transcript	.	.	ENSG00000175893	20750	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.159)	.	tolerated(0.09)	.	ZDH21_HUMAN	ZDHHC21	HGNC	.	.	UPI00000745E6	SNV	ZDHHC21,missense_variant,p.Arg181Gly,ENST00000380916,;	1008	69	50	SUCCESS
TMEM8B	51754	.	GRCh37	9	35853674	35853674	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	60	264	0	ENST00000377988.2:c.1256G>T	p.Gly419Val	p.G419V	ENST00000377988	NM_001042590.2	419	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43800.1	1256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGGCAGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14319:SF6,hmmpanther:PTHR14319	.	.	ENSP00000367227	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000377988	Transcript	.	.	ENSG00000137103	21427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	TMM8B_HUMAN	TMEM8B	HGNC	.	.	UPI00002113B9	SNV	TMEM8B,missense_variant,p.Gly419Val,ENST00000377988,;TMEM8B,missense_variant,p.Gly419Val,ENST00000377991,;	2544	264	163	SUCCESS
RLN1	6013	.	GRCh37	9	5339796	5339796	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	154	1	ENST00000223862.1:c.-50A>G		p.*17*	ENST00000223862	NM_006911.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6462.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACTGCGGC	NONE	.	.	.	.	.	ENSP00000223862	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000223862	Transcript	.	.	ENSG00000107018	10026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REL1_HUMAN	RLN1	HGNC	.	.	UPI000002C183	SNV	RLN1,5_prime_UTR_variant,,ENST00000223858,;RLN1,5_prime_UTR_variant,,ENST00000223862,;RLN1,upstream_gene_variant,,ENST00000487557,;	78	155	81	SUCCESS
TENM1	10178	.	GRCh37	X	123654550	123654550	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	49	291	0	ENST00000371130.3:c.3118C>T	p.Leu1040=	p.L1040=	ENST00000371130	NM_014253.3	1040	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55488.1	3118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTAGCAGGG	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,synonymous_variant,p.%3D,ENST00000422452,;TENM1,synonymous_variant,p.%3D,ENST00000371130,;	3182	291	70	SUCCESS
EFHC2	80258	.	GRCh37	X	44109537	44109537	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	168	0	ENST00000420999.1:c.761T>C	p.Phe254Ser	p.F254S	ENST00000420999	NM_025184.3	254	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS55405.1	761	MUTECT|MUSE	.	ACAAGAAGTAA	NONE	.	.	PROSITE_profiles:PS51336,hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11,Pfam_domain:PF06565,SMART_domains:SM00676	.	.	ENSP00000404232	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000420999	Transcript	.	.	ENSG00000183690	26233	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	EFHC2_HUMAN	EFHC2	HGNC	.	.	UPI00000717F2	SNV	EFHC2,missense_variant,p.Phe254Ser,ENST00000420999,;	845	168	56	SUCCESS
TAF5	6877	.	GRCh37	10	105142994	105142994	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	63	177	1	ENST00000369839.3:c.1535-1G>C		p.X512_splice	ENST00000369839	NM_006951.3	512		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGATCTT	NONE	.	.	.	.	.	ENSP00000358854	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369839	Transcript	.	.	ENSG00000148835	11539	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF5_HUMAN	TAF5	HGNC	.	.	UPI000013DB5B	SNV	TAF5,splice_acceptor_variant,,ENST00000351396,;TAF5,splice_acceptor_variant,,ENST00000369839,;	.	178	149	SUCCESS
PLEKHS1	79949	.	GRCh37	10	115528632	115528632	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	65	0	ENST00000369310.3:c.400A>G	p.Thr134Ala	p.T134A	ENST00000369310	NM_182601.1	134	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS53580.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAACACAG	NONE	.	.	hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156,Superfamily_domains:SSF50729	.	.	ENSP00000358316	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000369310	Transcript	.	.	ENSG00000148735	26285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	PKHS1_HUMAN	PLEKHS1	HGNC	.	.	UPI000047020C	SNV	PLEKHS1,missense_variant,p.Thr134Ala,ENST00000369310,;PLEKHS1,missense_variant,p.Thr140Ala,ENST00000361048,;PLEKHS1,missense_variant,p.Thr52Ala,ENST00000369312,;PLEKHS1,upstream_gene_variant,,ENST00000354462,;PLEKHS1,upstream_gene_variant,,ENST00000369309,;	962	66	43	SUCCESS
ADAM12	8038	.	GRCh37	10	127760154	127760154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	75	165	1	ENST00000368679.4:c.1224G>A	p.Met408Ile	p.M408I	ENST00000368679	NM_003474.4	408	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7653.1	1224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCATTCC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000357668	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(1)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Met408Ile,ENST00000368679,;ADAM12,missense_variant,p.Met408Ile,ENST00000368676,;ADAM12,upstream_gene_variant,,ENST00000467145,;ADAM12,upstream_gene_variant,,ENST00000482291,;	1534	166	155	SUCCESS
ZFAND4	93550	.	GRCh37	10	46111982	46111982	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	67	215	0	ENST00000344646.5:c.2086G>C	p.Glu696Gln	p.E696Q	ENST00000344646	NM_174890.2	696	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS7214.1	2086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCTGCAT	NONE	.	.	PROSITE_profiles:PS51039,hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666,Pfam_domain:PF01428,Gene3D:4.10.1110.10,SMART_domains:SM00154,Superfamily_domains:SSF118310	.	.	ENSP00000339484	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000344646	Transcript	.	.	ENSG00000172671	23504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZFAN4_HUMAN	ZFAND4	HGNC	Q5VVY6_HUMAN,J3KPC0_HUMAN	.	UPI0000161363	SNV	ZFAND4,missense_variant,p.Glu696Gln,ENST00000344646,;ZFAND4,missense_variant,p.Glu622Gln,ENST00000374366,;ZFAND4,3_prime_UTR_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;ZFAND4,downstream_gene_variant,,ENST00000484333,;	2302	215	214	SUCCESS
TAF3	83860	.	GRCh37	10	8006861	8006861	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778575614	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	102	0	ENST00000344293.5:c.1388C>T	p.Ser463Leu	p.S463L	ENST00000344293	NM_031923.3	463	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS41487.1	1388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACTCATGGA	NONE	.	.	hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321	.	.	ENSP00000340271	.	3/7	.	.	.	.	.	.	.	.	rs778575614	3/7	PASS	ENST00000344293	Transcript	.	.	ENSG00000165632	17303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TAF3_HUMAN	TAF3	HGNC	.	.	UPI00004588FA	SNV	TAF3,missense_variant,p.Ser463Leu,ENST00000344293,;	1594	102	101	SUCCESS
HTR7	3363	.	GRCh37	10	92509305	92509305	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	83	0	ENST00000336152.3:c.586G>T	p.Gly196Trp	p.G196W	ENST00000336152	NM_019859.3	196	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS7408.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCATTCT	NONE	.	.	Prints_domain:PR00652,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247,PROSITE_profiles:PS50262	.	.	ENSP00000337949	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000336152	Transcript	.	.	ENSG00000148680	5302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	5HT7R_HUMAN	HTR7	HGNC	.	.	UPI0000049B68	SNV	HTR7,missense_variant,p.Gly196Trp,ENST00000371719,;HTR7,missense_variant,p.Gly196Trp,ENST00000371721,;HTR7,missense_variant,p.Gly196Trp,ENST00000277874,;HTR7,missense_variant,p.Gly196Trp,ENST00000336152,;	613	83	121	SUCCESS
OR8G5	219865	.	GRCh37	11	124135110	124135110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	101	271	0	ENST00000524943.2:c.388C>A	p.Pro130Thr	p.P130T	ENST00000524943	NM_001005198.1	130	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS66256.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACCCTGAA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF73,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000477014	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000524943	Transcript	.	.	ENSG00000255298	19622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.1)	.	OR8G5_HUMAN	OR8G5	HGNC	B2RND3_HUMAN	.	UPI00003B286B	SNV	OR8G5,missense_variant,p.Pro130Thr,ENST00000524943,;OR8G1,intron_variant,,ENST00000341493,;	388	271	218	SUCCESS
CSRP3	8048	.	GRCh37	11	19204231	19204231	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	7	151	0	ENST00000265968.3:c.571G>T	p.Glu191Ter	p.E191*	ENST00000265968		191	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7848.1	571	MUTECT|MUSE	.	CTTTTCCACTT	NONE	.	.	hmmpanther:PTHR24215,hmmpanther:PTHR24215:SF1	.	.	ENSP00000431813	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000533783	Transcript	.	.	ENSG00000129170	2472	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSRP3_HUMAN	CSRP3	HGNC	A2TDB8_HUMAN	.	UPI000011DC5F	SNV	CSRP3,stop_gained,p.Glu191Ter,ENST00000533783,;CSRP3,stop_gained,p.Glu191Ter,ENST00000265968,;	812	151	145	SUCCESS
LUZP2	338645	.	GRCh37	11	25100161	25100161	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773564969	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	63	0	ENST00000336930.6:c.998C>A	p.Thr333Asn	p.T333N	ENST00000336930		333	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS31446.1	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGACCAGCT	NONE	.	.	hmmpanther:PTHR22414	.	.	ENSP00000336817	.	12/12	.	.	.	.	.	.	.	.	rs773564969	12/12	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.16)	.	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,missense_variant,p.Thr333Asn,ENST00000336930,;LUZP2,missense_variant,p.Thr247Asn,ENST00000533227,;	1064	64	67	SUCCESS
WT1	7490	.	GRCh37	11	32421555	32421555	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761627098	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	9	243	0	ENST00000332351.3:c.1037C>T	p.Thr346Met	p.T346M	ENST00000332351	NM_024426.4	346	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS7878.2	1037	MUTECT|MUSE	.	TGGGCGTTGTG	BUFFER|p.C138R|c.412T>C|3,BUFFER|p.C282R|c.844T>C|4	.	.	hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042,Pfam_domain:PF02165	.	.	ENSP00000331327	.	6/10	.	.	.	.	.	.	.	.	rs761627098,COSM1232870,COSM1232869	6/10	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	possibly_damaging(0.489)	.	deleterious_low_confidence(0.01)	0,1,1	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,missense_variant,p.Thr97Met,ENST00000527775,;WT1,missense_variant,p.Thr346Met,ENST00000332351,;WT1,missense_variant,p.Thr346Met,ENST00000448076,;WT1,missense_variant,p.Thr329Met,ENST00000452863,;WT1,missense_variant,p.Thr134Met,ENST00000379079,;WT1,missense_variant,p.Thr37Met,ENST00000527882,;WT1,missense_variant,p.Thr117Met,ENST00000530998,;WT1,5_prime_UTR_variant,,ENST00000526685,;WT1,3_prime_UTR_variant,,ENST00000379077,;	1322	243	230	SUCCESS
RPS6KA4	8986	.	GRCh37	11	64128041	64128041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	94	0	ENST00000334205.4:c.439C>A	p.Leu147Met	p.L147M	ENST00000334205	NM_003942.2	147	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS8073.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGCTGGCC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24351:SF41,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000333896	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000334205	Transcript	.	.	ENSG00000162302	10433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.02)	.	KS6A4_HUMAN	RPS6KA4	HGNC	A0PJF8_HUMAN	.	UPI000006F835	SNV	RPS6KA4,missense_variant,p.Leu147Met,ENST00000294261,;RPS6KA4,missense_variant,p.Leu147Met,ENST00000334205,;RPS6KA4,missense_variant,p.Leu147Met,ENST00000528057,;RPS6KA4,missense_variant,p.Leu131Met,ENST00000530504,;CCDC88B,downstream_gene_variant,,ENST00000301897,;CCDC88B,downstream_gene_variant,,ENST00000359902,;CCDC88B,downstream_gene_variant,,ENST00000356786,;CCDC88B,downstream_gene_variant,,ENST00000463837,;CCDC88B,downstream_gene_variant,,ENST00000472524,;CCDC88B,downstream_gene_variant,,ENST00000473405,;CCDC88B,downstream_gene_variant,,ENST00000494080,;CCDC88B,downstream_gene_variant,,ENST00000479965,;RPS6KA4,3_prime_UTR_variant,,ENST00000528355,;RPS6KA4,non_coding_transcript_exon_variant,,ENST00000532885,;RPS6KA4,non_coding_transcript_exon_variant,,ENST00000531659,;RPS6KA4,upstream_gene_variant,,ENST00000532496,;RPS6KA4,downstream_gene_variant,,ENST00000530383,;	504	94	83	SUCCESS
NLRP10	338322	.	GRCh37	11	7981809	7981809	+	synonymous_variant	Silent	SNP	G	G	A	rs56052845	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	61	0	ENST00000328600.2:c.1350C>T	p.Asn450=	p.N450=	ENST00000328600	NM_176821.3	450	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS7784.1	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCGTTACT	NONE	byFrequency	.	hmmpanther:PTHR24106:SF103,hmmpanther:PTHR24106	.	.	ENSP00000327763	.	2/2	.	.	.	.	.	.	.	.	rs56052845,COSM1259203	2/2	PASS	ENST00000328600	Transcript	.	.	ENSG00000182261	21464	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NAL10_HUMAN	NLRP10	HGNC	E9PPY0_HUMAN	.	UPI0000167F6C	SNV	NLRP10,synonymous_variant,p.%3D,ENST00000328600,;NLRP10,downstream_gene_variant,,ENST00000526590,;	1512	61	60	SUCCESS
HNF1A	6927	.	GRCh37	12	121426820	121426820	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1057520291	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	73	0	ENST00000257555.6:c.511C>T	p.Arg171Ter	p.R171*	ENST00000257555		171	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS9209.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGAGAG	BUFFER|p.R168C|c.502C>T|3	.	.	hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF04814,Gene3D:1.10.260.40,Superfamily_domains:SSF47413	.	.	ENSP00000257555	.	2/10	.	.	.	.	.	.	.	.	CM093342,CM971451	2/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,stop_gained,p.Arg171Ter,ENST00000541395,;HNF1A,stop_gained,p.Arg171Ter,ENST00000400024,;HNF1A,stop_gained,p.Arg171Ter,ENST00000402929,;HNF1A,stop_gained,p.Arg54Ter,ENST00000543427,;HNF1A,stop_gained,p.Arg171Ter,ENST00000544413,;HNF1A,stop_gained,p.Arg171Ter,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,stop_gained,p.Arg219Ter,ENST00000560968,;HNF1A,stop_gained,p.Arg171Ter,ENST00000538646,;HNF1A,stop_gained,p.Arg171Ter,ENST00000541924,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000540108,;	737	73	69	SUCCESS
HNF1A	6927	.	GRCh37	12	121431506	121431506	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	57	0	ENST00000257555.6:c.710A>G	p.Asn237Ser	p.N237S	ENST00000257555		237	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS9209.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAATAGGT	SITE|p.N237S|c.710A>G|4	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000257555	.	3/10	.	.	.	.	.	.	.	.	COSM21474	3/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.382)	.	deleterious(0.02)	1	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Asn237Ser,ENST00000541395,;HNF1A,missense_variant,p.Asn237Ser,ENST00000400024,;HNF1A,missense_variant,p.Asn237Ser,ENST00000402929,;HNF1A,missense_variant,p.Asn120Ser,ENST00000543427,;HNF1A,missense_variant,p.Asn237Ser,ENST00000544413,;HNF1A,missense_variant,p.Asn237Ser,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Asn285Ser,ENST00000560968,;HNF1A,missense_variant,p.Asn237Ser,ENST00000541924,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000538646,;HNF1A,upstream_gene_variant,,ENST00000543255,;	936	57	66	SUCCESS
ITFG2	55846	.	GRCh37	12	2933099	2933099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	77	0	ENST00000228799.2:c.1230G>T	p.Glu410Asp	p.E410D	ENST00000228799	NM_018463.3	410	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS8513.1	1230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCTGGG	NONE	.	.	hmmpanther:PTHR16317	.	.	ENSP00000228799	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000228799	Transcript	.	.	ENSG00000111203	30879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.33)	.	ITFG2_HUMAN	ITFG2	HGNC	H0YFM4_HUMAN,E7EST0_HUMAN	.	UPI00000373A8	SNV	ITFG2,missense_variant,p.Glu31Asp,ENST00000540662,;ITFG2,missense_variant,p.Glu233Asp,ENST00000419778,;ITFG2,missense_variant,p.Glu298Asp,ENST00000542548,;ITFG2,missense_variant,p.Glu410Asp,ENST00000228799,;ITFG2,intron_variant,,ENST00000535564,;NRIP2,downstream_gene_variant,,ENST00000542386,;NRIP2,downstream_gene_variant,,ENST00000542990,;NRIP2,downstream_gene_variant,,ENST00000337508,;ITFG2,missense_variant,p.Glu20Asp,ENST00000538822,;ITFG2,missense_variant,p.Glu94Asp,ENST00000534935,;ITFG2,3_prime_UTR_variant,,ENST00000537851,;ITFG2,3_prime_UTR_variant,,ENST00000540929,;ITFG2,downstream_gene_variant,,ENST00000537183,;	1369	77	79	SUCCESS
KMT2D	8085	.	GRCh37	12	49425236	49425236	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	119	0	ENST00000301067.7:c.13252del	p.Glu4418AsnfsTer14	p.E4418Nfs*14	ENST00000301067	NM_003482.3	4418	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS44873.1	13252	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGTTCCTGCT	BUFFER|p.R4150W|c.12448C>T|3,BUFFER|p.R4420W|c.13258C>T|3	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	deletion	KMT2D,frameshift_variant,p.Glu4418AsnfsTer14,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	13252	119	104	SUCCESS
VAMP1	6843	.	GRCh37	12	6575451	6575451	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	92	0	ENST00000396308.3:c.69C>T	p.Gly23=	p.G23=	ENST00000396308	NM_199245.1	23	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41740.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCCAGG	NONE	.	.	PIRSF_domain:PIRSF005409,hmmpanther:PTHR21136:SF32,hmmpanther:PTHR21136,Low_complexity_(Seg):seg	.	.	ENSP00000379602	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	SNV	VAMP1,synonymous_variant,p.%3D,ENST00000396308,;VAMP1,synonymous_variant,p.%3D,ENST00000361716,;VAMP1,synonymous_variant,p.%3D,ENST00000535180,;VAMP1,synonymous_variant,p.%3D,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;VAMP1,non_coding_transcript_exon_variant,,ENST00000539047,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;VAMP1,intron_variant,,ENST00000544432,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,intron_variant,,ENST00000535927,;VAMP1,upstream_gene_variant,,ENST00000538970,;	215	92	103	SUCCESS
ZDHHC17	23390	.	GRCh37	12	77158072	77158072	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs562629778	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	58	0	ENST00000426126.2:c.56A>G	p.Asp19Gly	p.D19G	ENST00000426126	NM_015336.2	19	gAt/gGt	0	.	G:0	.	G:0	.	G	D/G	protein_coding	YES	CCDS44946.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACGATACCG	NONE	by1000G	.	hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18	G:0	.	ENSP00000403397	G:0.001	1/17	.	.	.	.	.	.	.	.	rs562629778	1/17	PASS	ENST00000426126	Transcript	.	G:0.0002	ENSG00000186908	18412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	G:0	tolerated_low_confidence(0.11)	.	ZDH17_HUMAN	ZDHHC17	HGNC	A8KA01_HUMAN	.	UPI0000051F55	SNV	ZDHHC17,missense_variant,p.Asp19Gly,ENST00000426126,;ZDHHC17,missense_variant,p.Asp19Gly,ENST00000334822,;ZDHHC17,missense_variant,p.Ile4Val,ENST00000359019,;ZDHHC17,5_prime_UTR_variant,,ENST00000550876,;ZDHHC17,upstream_gene_variant,,ENST00000549682,;ZDHHC17,missense_variant,p.Asp14Gly,ENST00000547620,;ZDHHC17,missense_variant,p.Asp12Gly,ENST00000551407,;ZDHHC17,missense_variant,p.Asp12Gly,ENST00000547604,;ZDHHC17,missense_variant,p.Asp17Gly,ENST00000552453,;ZDHHC17,missense_variant,p.Asp19Gly,ENST00000546778,;ZDHHC17,upstream_gene_variant,,ENST00000550163,;	705	58	46	SUCCESS
FOXJ2	55810	.	GRCh37	12	8205442	8205442	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	55	0	ENST00000162391.3:c.1721C>G	p.Thr574Ser	p.T574S	ENST00000162391	NM_018416.2	574	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS8587.1	1721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACTTAGT	NONE	.	.	.	.	.	ENSP00000162391	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000162391	Transcript	.	.	ENSG00000065970	24818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious_low_confidence(0.02)	.	FOXJ2_HUMAN	FOXJ2	HGNC	.	.	UPI000012ADE1	SNV	FOXJ2,missense_variant,p.Thr574Ser,ENST00000162391,;FOXJ2,downstream_gene_variant,,ENST00000428177,;FOXJ2,non_coding_transcript_exon_variant,,ENST00000539192,;	2866	55	57	SUCCESS
CUL4A	8451	.	GRCh37	13	113898777	113898777	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	89	182	0	ENST00000375440.4:c.1282G>T	p.Glu428Ter	p.E428*	ENST00000375440	NM_001008895.2	428	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41908.1	1282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGGAGCTG	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932:SF68,hmmpanther:PTHR11932,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF75632	.	.	ENSP00000364589	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000375440	Transcript	.	.	ENSG00000139842	2554	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL4A_HUMAN	CUL4A	HGNC	B4DKT2_HUMAN	.	UPI000021C449	SNV	CUL4A,stop_gained,p.Glu328Ter,ENST00000375441,;CUL4A,stop_gained,p.Glu428Ter,ENST00000375440,;CUL4A,stop_gained,p.Glu328Ter,ENST00000326335,;CUL4A,stop_gained,p.Glu328Ter,ENST00000451881,;CUL4A,non_coding_transcript_exon_variant,,ENST00000470067,;CUL4A,upstream_gene_variant,,ENST00000472083,;	1366	182	215	SUCCESS
IGHV3-49	28423	.	GRCh37	14	107013160	107013160	+	synonymous_variant	Silent	SNP	T	T	A	rs782102750	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	72	0	ENST00000390625.2:c.135A>T	p.Gly45=	p.G45=	ENST00000390625		45	ggA/ggT	0	.	.	.	.	.	A	G	IG_V_gene	YES	.	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAATCCAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375034	.	2/2	.	.	.	.	.	.	.	.	rs782102750	2/2	PASS	ENST00000390625	Transcript	.	.	ENSG00000211965	5607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHV3-49	HGNC	.	.	UPI000011AAC9	SNV	IGHV3-49,synonymous_variant,p.%3D,ENST00000390625,;	215	72	87	SUCCESS
BAZ1A	11177	.	GRCh37	14	35231375	35231375	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	9	162	1	ENST00000360310.1:c.3831A>C	p.Lys1277Asn	p.K1277N	ENST00000360310	NM_013448.2	1277	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS9651.1	3831	MUTECT|MUSE	.	CTAAGTTTCCC	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145	.	.	ENSP00000353458	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000360310	Transcript	.	.	ENSG00000198604	960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated_low_confidence(0.09)	.	BAZ1A_HUMAN	BAZ1A	HGNC	D3DS96_HUMAN	.	UPI00001584D3	SNV	BAZ1A,missense_variant,p.Lys1245Asn,ENST00000358716,;BAZ1A,missense_variant,p.Lys1277Asn,ENST00000360310,;BAZ1A,missense_variant,p.Lys1277Asn,ENST00000382422,;BAZ1A,downstream_gene_variant,,ENST00000554865,;BAZ1A,upstream_gene_variant,,ENST00000555331,;BAZ1A,upstream_gene_variant,,ENST00000557739,;	4399	163	187	SUCCESS
DUT	1854	.	GRCh37	15	48634045	48634045	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	21	0	ENST00000331200.3:c.703-174G>A		p.*235*	ENST00000331200	NM_001025248.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32231.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGTATTC	NONE	.	.	.	.	.	ENSP00000370376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331200	Transcript	.	.	ENSG00000128951	3078	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUT_HUMAN	DUT	HGNC	.	.	UPI000035ECE0	SNV	DUT,3_prime_UTR_variant,,ENST00000559540,;DUT,intron_variant,,ENST00000558813,;DUT,intron_variant,,ENST00000455976,;DUT,intron_variant,,ENST00000331200,;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000558367,;DUT,downstream_gene_variant,,ENST00000559935,;DUT,downstream_gene_variant,,ENST00000561350,;DUT,intron_variant,,ENST00000559852,;DUT,intron_variant,,ENST00000558978,;	.	21	14	SUCCESS
SECISBP2L	9728	.	GRCh37	15	49284998	49284999	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGGGGGTGTGTCAAATGGAAGTTG	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	110	34	170	0	ENST00000559471.1:c.2748_2749insCAACTTCCATTTGACACACCCCCA	p.Pro916_Ile917insGlnLeuProPheAspThrProPro	p.P916_I917insQLPFDTPP	ENST00000559471	NM_001193489.1	916	-/CAACTTCCATTTGACACACCCCCA	0	.	.	.	.	.	TGGGGGTGTGTCAAATGGAAGTTG	-/QLPFDTPP	protein_coding	YES	CCDS53942.1	2748-2749	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCAATTGGGG	NONE	.	.	hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10	.	.	ENSP00000453854	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000559471	Transcript	.	.	ENSG00000138593	28997	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SBP2L_HUMAN	SECISBP2L	HGNC	J3KPI1_HUMAN	.	UPI00001C1F8B	insertion	SECISBP2L,inframe_insertion,p.Pro871_Ile872insGlnLeuProPheAspThrProPro,ENST00000261847,;SECISBP2L,inframe_insertion,p.Pro83_Ile84insGlnLeuProPheAspThrProPro,ENST00000561428,;SECISBP2L,inframe_insertion,p.Pro916_Ile917insGlnLeuProPheAspThrProPro,ENST00000559471,;SECISBP2L,downstream_gene_variant,,ENST00000380927,;Y_RNA,downstream_gene_variant,,ENST00000384377,;	3012-3013	170	144	SUCCESS
TRIP4	9325	.	GRCh37	15	64701814	64701814	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	8	114	0	ENST00000261884.3:c.830T>C	p.Ile277Thr	p.I277T	ENST00000261884	NM_016213.4	277	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS10194.1	830	MUTECT|MUSE	.	CAGTATTCGAA	NONE	.	.	hmmpanther:PTHR12963:SF0,hmmpanther:PTHR12963	.	.	ENSP00000261884	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000261884	Transcript	.	.	ENSG00000103671	12310	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.14)	.	tolerated(0.12)	.	TRIP4_HUMAN	TRIP4	HGNC	.	.	UPI0000035D96	SNV	TRIP4,missense_variant,p.Ile277Thr,ENST00000261884,;TRIP4,upstream_gene_variant,,ENST00000560475,;TRIP4,splice_region_variant,,ENST00000559565,;TRIP4,missense_variant,p.Ile277Thr,ENST00000560567,;TRIP4,splice_region_variant,,ENST00000558820,;TRIP4,splice_region_variant,,ENST00000561265,;	890	114	129	SUCCESS
FURIN	5045	.	GRCh37	15	91423938	91423938	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	129	0	ENST00000268171.3:c.1574C>T	p.Ala525Val	p.A525V	ENST00000268171	NM_002569.2	525	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10364.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGCAGATG	NONE	.	.	Superfamily_domains:SSF49785,Gene3D:2.60.120.260,Pfam_domain:PF01483,hmmpanther:PTHR10795:SF325,hmmpanther:PTHR10795	.	.	ENSP00000268171	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.13)	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,missense_variant,p.Ala525Val,ENST00000268171,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000559355,;FES,upstream_gene_variant,,ENST00000450438,;FES,upstream_gene_variant,,ENST00000394300,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000444422,;FES,upstream_gene_variant,,ENST00000328850,;FURIN,downstream_gene_variant,,ENST00000559353,;FURIN,3_prime_UTR_variant,,ENST00000558794,;FURIN,downstream_gene_variant,,ENST00000560018,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	1853	129	99	SUCCESS
CACNA1H	8912	.	GRCh37	16	1251935	1251935	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	45	0	ENST00000348261.5:c.1485G>A	p.Val495=	p.V495=	ENST00000348261	NM_021098.2	495	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45375.1	1485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGCAAGG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,synonymous_variant,p.%3D,ENST00000565831,;CACNA1H,synonymous_variant,p.%3D,ENST00000358590,;CACNA1H,synonymous_variant,p.%3D,ENST00000348261,;RP11-616M22.3,downstream_gene_variant,,ENST00000564700,;CACNA1H,downstream_gene_variant,,ENST00000564954,;	1733	45	39	SUCCESS
SH2B1	25970	.	GRCh37	16	28877909	28877909	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	47	0	ENST00000322610.8:c.494C>T	p.Ser165Leu	p.S165L	ENST00000322610		165	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS53996.1	494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCAGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10872:SF3,hmmpanther:PTHR10872	.	.	ENSP00000321221	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000322610	Transcript	.	.	ENSG00000178188	30417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0)	.	SH2B1_HUMAN	SH2B1	HGNC	H3BVF6_HUMAN,H3BTK4_HUMAN	.	UPI00001AF36C	SNV	SH2B1,missense_variant,p.Ser165Leu,ENST00000395532,;SH2B1,missense_variant,p.Ser165Leu,ENST00000322610,;SH2B1,missense_variant,p.Ser165Leu,ENST00000359285,;SH2B1,missense_variant,p.Ser165Leu,ENST00000337120,;SH2B1,intron_variant,,ENST00000545570,;SH2B1,intron_variant,,ENST00000538342,;SH2B1,intron_variant,,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000566176,;SH2B1,downstream_gene_variant,,ENST00000563591,;SH2B1,upstream_gene_variant,,ENST00000561629,;SH2B1,downstream_gene_variant,,ENST00000566209,;RP11-22P6.2,upstream_gene_variant,,ENST00000567731,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,upstream_gene_variant,,ENST00000569471,;	933	47	52	SUCCESS
TMEM219	124446	.	GRCh37	16	29979380	29979380	+	synonymous_variant	Silent	SNP	C	C	T	rs1471443164	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	101	0	ENST00000279396.6:c.390C>T	p.Ala130=	p.A130=	ENST00000279396	NM_001083613.1	130	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42145.1	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCAGGGT	NONE	.	.	hmmpanther:PTHR16002,hmmpanther:PTHR16002:SF2,Pfam_domain:PF14940	.	.	ENSP00000457492	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000566848	Transcript	.	.	ENSG00000149932	25201	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM219_HUMAN	TMEM219	HGNC	R4GNJ4_HUMAN	.	UPI000004F67E	SNV	TMEM219,synonymous_variant,p.%3D,ENST00000414689,;TMEM219,synonymous_variant,p.%3D,ENST00000279396,;TMEM219,synonymous_variant,p.%3D,ENST00000602948,;TMEM219,synonymous_variant,p.%3D,ENST00000575829,;TMEM219,synonymous_variant,p.%3D,ENST00000569445,;TMEM219,synonymous_variant,p.%3D,ENST00000566848,;TMEM219,synonymous_variant,p.%3D,ENST00000561899,;TMEM219,intron_variant,,ENST00000569481,;TMEM219,synonymous_variant,p.%3D,ENST00000570255,;	857	101	104	SUCCESS
SETD1A	9739	.	GRCh37	16	30976057	30976057	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	145	1	ENST00000262519.8:c.994G>A	p.Ala332Thr	p.A332T	ENST00000262519	NM_014712.1	332	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32435.1	994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF295,hmmpanther:PTHR22884	.	.	ENSP00000262519	.	7/19	.	.	.	.	.	.	.	.	COSM4129001	7/19	PASS	ENST00000262519	Transcript	.	.	ENSG00000099381	29010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	.	1	SET1A_HUMAN	SETD1A	HGNC	C9J2Z9_HUMAN	.	UPI00001C1FA9	SNV	SETD1A,missense_variant,p.Ala332Thr,ENST00000262519,;SETD1A,downstream_gene_variant,,ENST00000452917,;	1680	146	144	SUCCESS
ALG1	56052	.	GRCh37	16	5127503	5127503	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	98	0	ENST00000262374.5:c.597G>A	p.Met199Ile	p.M199I	ENST00000262374	NM_019109.4	199	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10528.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATGCGAGA	NONE	.	.	hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0,Superfamily_domains:SSF53756	.	.	ENSP00000262374	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000262374	Transcript	.	.	ENSG00000033011	18294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ALG1_HUMAN	ALG1	HGNC	K7EID2_HUMAN,B4DP08_HUMAN	.	UPI000003B09B	SNV	ALG1,missense_variant,p.Met88Ile,ENST00000588623,;ALG1,missense_variant,p.Met88Ile,ENST00000544428,;ALG1,missense_variant,p.Met88Ile,ENST00000591783,;ALG1,missense_variant,p.Met199Ile,ENST00000262374,;ALG1,downstream_gene_variant,,ENST00000586840,;ALG1,3_prime_UTR_variant,,ENST00000591822,;ALG1,downstream_gene_variant,,ENST00000592793,;RP11-10K17.3,downstream_gene_variant,,ENST00000564330,;	628	98	90	SUCCESS
CWC25	54883	.	GRCh37	17	36977155	36977155	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	109	0	ENST00000225428.5:c.190A>T	p.Lys64Ter	p.K64*	ENST00000225428	NM_017748.4	64	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45663.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTTGACGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16196,Pfam_domain:PF12542	.	.	ENSP00000225428	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000225428	Transcript	.	.	ENSG00000108296	25989	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CWC25_HUMAN	CWC25	HGNC	B4DZL1_HUMAN	.	UPI000007081D	SNV	CWC25,stop_gained,p.Lys64Ter,ENST00000225428,;CWC25,splice_region_variant,,ENST00000536127,;MIR4727,upstream_gene_variant,,ENST00000584037,;CWC25,stop_gained,p.Lys64Ter,ENST00000583435,;CWC25,stop_gained,p.Lys64Ter,ENST00000585298,;CWC25,stop_gained,p.Lys12Ter,ENST00000582713,;	488	109	132	SUCCESS
CCR10	2826	.	GRCh37	17	40831634	40831634	+	synonymous_variant	Silent	SNP	G	G	A	rs751380970	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	28	0	ENST00000332438.4:c.1026C>T	p.Arg342=	p.R342=	ENST00000332438	NM_016602.2	342	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11435.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGGCGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF72,Superfamily_domains:SSF81321,Prints_domain:PR01557	.	.	ENSP00000332504	.	2/2	.	.	.	.	.	.	.	.	rs751380970	2/2	PASS	ENST00000332438	Transcript	.	.	ENSG00000184451	4474	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR10_HUMAN	CCR10	HGNC	K7ER70_HUMAN,K7EPC9_HUMAN	.	UPI0000212EE9	SNV	CCR10,synonymous_variant,p.%3D,ENST00000591765,;CCR10,synonymous_variant,p.%3D,ENST00000332438,;PLEKHH3,upstream_gene_variant,,ENST00000412503,;PLEKHH3,upstream_gene_variant,,ENST00000587627,;PLEKHH3,upstream_gene_variant,,ENST00000591022,;CCR10,downstream_gene_variant,,ENST00000591568,;CNTNAP1,upstream_gene_variant,,ENST00000264638,;PLEKHH3,upstream_gene_variant,,ENST00000293349,;CTD-3193K9.3,downstream_gene_variant,,ENST00000592440,;CTD-3193K9.4,upstream_gene_variant,,ENST00000593139,;PLEKHH3,upstream_gene_variant,,ENST00000591544,;PLEKHH3,upstream_gene_variant,,ENST00000456950,;PLEKHH3,upstream_gene_variant,,ENST00000591196,;CNTNAP1,upstream_gene_variant,,ENST00000591662,;PLEKHH3,upstream_gene_variant,,ENST00000591490,;	1046	28	35	SUCCESS
KPNB1	3837	.	GRCh37	17	45757446	45757446	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	100	0	ENST00000290158.4:c.2414C>T	p.Ala805Val	p.A805V	ENST00000290158	NM_002265.5	805	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11513.1	2414	MUTECT|MUSE	.	CATTGCTGGAG	NONE	.	.	hmmpanther:PTHR10527:SF1,hmmpanther:PTHR10527,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000290158	.	20/22	.	.	.	.	.	.	.	.	COSM1195476	20/22	PASS	ENST00000290158	Transcript	.	.	ENSG00000108424	6400	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.37)	.	deleterious(0.03)	1	IMB1_HUMAN	KPNB1	HGNC	J3QRG4_HUMAN,J3QR48_HUMAN,B7ZAV6_HUMAN	.	UPI0000001C21	SNV	KPNB1,missense_variant,p.Ala619Val,ENST00000582097,;KPNB1,missense_variant,p.Ala660Val,ENST00000535458,;KPNB1,missense_variant,p.Ala589Val,ENST00000537679,;KPNB1,missense_variant,p.Ala660Val,ENST00000540627,;KPNB1,missense_variant,p.Ala805Val,ENST00000290158,;RP11-138C9.1,downstream_gene_variant,,ENST00000578482,;KPNB1,downstream_gene_variant,,ENST00000579901,;KPNB1,non_coding_transcript_exon_variant,,ENST00000580158,;KPNB1,upstream_gene_variant,,ENST00000582126,;KPNB1,downstream_gene_variant,,ENST00000580573,;	2821	100	94	SUCCESS
CTC1	80169	.	GRCh37	17	8141349	8141349	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1209456215	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	71	0	ENST00000315684.8:c.647G>A	p.Arg216Lys	p.R216K	ENST00000315684	NM_025099.5	216	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS42259.1	647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACCTGAGC	NONE	.	.	hmmpanther:PTHR14865,Pfam_domain:PF15489	.	.	ENSP00000313759	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000315684	Transcript	.	.	ENSG00000178971	26169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.03)	.	CTC1_HUMAN	CTC1	HGNC	.	.	UPI000041A9A9	SNV	CTC1,missense_variant,p.Arg216Lys,ENST00000315684,;CTC1,splice_region_variant,,ENST00000581671,;CTC1,missense_variant,p.Arg216Lys,ENST00000449476,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000584842,;CTC1,upstream_gene_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000583254,;	655	71	76	SUCCESS
ESCO1	114799	.	GRCh37	18	19144186	19144186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	30	161	0	ENST00000269214.5:c.1799C>A	p.Thr600Asn	p.T600N	ENST00000269214	NM_052911.2	600	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS32800.1	1799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGTTTTC	NONE	.	.	hmmpanther:PTHR11076:SF26,hmmpanther:PTHR11076	.	.	ENSP00000269214	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000269214	Transcript	.	.	ENSG00000141446	24645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.26)	.	ESCO1_HUMAN	ESCO1	HGNC	.	.	UPI00001C1FF4	SNV	ESCO1,missense_variant,p.Thr600Asn,ENST00000269214,;ESCO1,missense_variant,p.Thr600Asn,ENST00000383276,;	2737	161	124	SUCCESS
ZNF521	25925	.	GRCh37	18	22807281	22807281	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	86	255	0	ENST00000361524.3:c.601C>A	p.Pro201Thr	p.P201T	ENST00000361524	NM_015461.2	201	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32806.1	601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGGCTTGT	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Pro201Thr,ENST00000538137,;ZNF521,missense_variant,p.Pro148Thr,ENST00000577720,;ZNF521,missense_variant,p.Pro201Thr,ENST00000577801,;ZNF521,missense_variant,p.Pro201Thr,ENST00000361524,;ZNF521,5_prime_UTR_variant,,ENST00000584787,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Pro201Thr,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	750	256	239	SUCCESS
CPAMD8	27151	.	GRCh37	19	17115177	17115180	+	frameshift_variant	Frame_Shift_Del	DEL	GAAG	GAAG	AAA	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	GAAG	GAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	99	0	ENST00000443236.1:c.717_720delinsTTT	p.Leu242CysfsTer38	p.L242Cfs*38	ENST00000443236	NM_015692.2	239	agCTTC/agTTT	0	.	.	.	.	.	AAA	SF/SX	protein_coding	YES	CCDS42519.1	717-720	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|MUSE*|VARSCANS*	.	CAAGGGGAAGCTCAT	NONE	.	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412,Pfam_domain:PF01835	.	.	ENSP00000402505	.	8/42	.	.	.	.	.	.	.	.	.	8/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	HIGH	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	substitution	CPAMD8,frameshift_variant,p.Leu195CysfsTer38,ENST00000388925,;CPAMD8,frameshift_variant,p.Leu242CysfsTer38,ENST00000443236,;CTD-2528A14.1,upstream_gene_variant,,ENST00000595134,;CPAMD8,frameshift_variant,p.Leu242CysfsTer38,ENST00000291440,;CPAMD8,upstream_gene_variant,,ENST00000601637,;	749-752	99	92	SUCCESS
PPAP2C	0	.	GRCh37	19	288028	288028	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148329482	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	57	153	0	ENST00000434325.2:c.28G>A	p.Val10Ile	p.V10I	ENST00000434325		10	Gtc/Atc	0	T:0.0002	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS12024.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGACGGTGG	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	T:0	T:0	ENSP00000329697	T:0.006	2/6	.	.	.	.	.	.	.	.	rs148329482,COSM371354	2/6	common_in_exac	ENST00000327790	Transcript	.	T:0.0012	ENSG00000141934	9230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.019)	T:0	tolerated(1)	0,1	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,missense_variant,p.Val87Ile,ENST00000327790,;PPAP2C,missense_variant,p.Val66Ile,ENST00000269812,;PPAP2C,missense_variant,p.Val10Ile,ENST00000434325,;PPAP2C,missense_variant,p.Val72Ile,ENST00000591572,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,non_coding_transcript_exon_variant,,ENST00000589672,;	363	153	132	SUCCESS
CYP2A6	1548	.	GRCh37	19	41354235	41354235	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	117	263	0	ENST00000301141.5:c.543C>G	p.Val181=	p.V181=	ENST00000301141	NM_000762.5	181	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS12568.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGACATT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000301141	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000301141	Transcript	1	.	ENSG00000255974	2610	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2A6_HUMAN	CYP2A6	HGNC	.	.	UPI000013E6D2	SNV	CYP2A6,synonymous_variant,p.%3D,ENST00000301141,;CYP2A6,3_prime_UTR_variant,,ENST00000600495,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000596719,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,upstream_gene_variant,,ENST00000599960,;	564	263	311	SUCCESS
ZNF611	81856	.	GRCh37	19	53208756	53208756	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	134	0	ENST00000319783.1:c.1552G>C	p.Val518Leu	p.V518L	ENST00000319783	NM_030972.3	518	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS12855.1	1552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACCTTTT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF233,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000437616	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000543227	Transcript	.	.	ENSG00000213020	28766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.13)	.	ZN611_HUMAN	ZNF611	HGNC	M0QYR0_HUMAN	.	UPI00001406C1	SNV	ZNF611,missense_variant,p.Val449Leu,ENST00000453741,;ZNF611,missense_variant,p.Val518Leu,ENST00000543227,;ZNF611,missense_variant,p.Val518Leu,ENST00000319783,;ZNF611,missense_variant,p.Val449Leu,ENST00000595798,;ZNF611,missense_variant,p.Val449Leu,ENST00000602162,;ZNF611,missense_variant,p.Val518Leu,ENST00000540744,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	1827	134	130	SUCCESS
FNDC7	163479	.	GRCh37	1	109261510	109261510	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	56	207	0	ENST00000370017.3:c.437T>G	p.Ile146Ser	p.I146S	ENST00000370017	NM_001144937.1	146	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS44185.1	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATTATGC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853	.	.	ENSP00000359034	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000370017	Transcript	.	.	ENSG00000143107	26668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	deleterious(0)	.	FNDC7_HUMAN	FNDC7	HGNC	.	.	UPI000187497A	SNV	FNDC7,missense_variant,p.Ile146Ser,ENST00000370017,;FNDC7,missense_variant,p.Ile147Ser,ENST00000271311,;FNDC7,upstream_gene_variant,,ENST00000445274,;	714	207	158	SUCCESS
CD5L	922	.	GRCh37	1	157805945	157805945	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs377627339	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	60	0	ENST00000368174.4:c.56C>T	p.Ala19Val	p.A19V	ENST00000368174	NM_005894.2	19	gCg/gTg	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS1171.1	56	MUTECT|MUSE	.	GAGACGCTGCA	NONE	byCluster	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246	.	A:0	ENSP00000357156	.	3/6	.	.	.	.	.	.	.	.	rs377627339,COSM159866,COSM676234	3/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.035)	.	tolerated(0.15)	0,1,1	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,missense_variant,p.Ala19Val,ENST00000368174,;CD5L,splice_region_variant,,ENST00000484609,;	153	60	44	SUCCESS
CTSE	1510	.	GRCh37	1	206325312	206325312	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	100	239	0	ENST00000358184.2:c.537A>C	p.Ala179=	p.A179=	ENST00000358184	NM_001910.3	179	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS1462.1	537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCAGAGTT	NONE	.	.	hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF81,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	.	.	ENSP00000350911	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000358184	Transcript	.	.	ENSG00000196188	2530	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATE_HUMAN	CTSE	HGNC	.	.	UPI000000D9E4	SNV	CTSE,synonymous_variant,p.%3D,ENST00000361052,;CTSE,synonymous_variant,p.%3D,ENST00000360218,;CTSE,synonymous_variant,p.%3D,ENST00000432969,;CTSE,synonymous_variant,p.%3D,ENST00000358184,;CTSE,non_coding_transcript_exon_variant,,ENST00000468617,;CTSE,upstream_gene_variant,,ENST00000486757,;	655	239	258	SUCCESS
URB2	9816	.	GRCh37	1	229794870	229794870	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	82	0	ENST00000258243.2:c.4401A>C	p.Lys1467Asn	p.K1467N	ENST00000258243	NM_014777.2	1467	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS31052.1	4401	MUTECT|MUSE	.	GTGAAAAGTCT	NONE	.	.	hmmpanther:PTHR15682,Pfam_domain:PF10441	.	.	ENSP00000258243	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000258243	Transcript	.	.	ENSG00000135763	28967	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	URB2_HUMAN	URB2	HGNC	Q5VYD0_HUMAN	.	UPI000013CFBD	SNV	URB2,missense_variant,p.Lys1467Asn,ENST00000258243,;URB2,missense_variant,p.Lys83Asn,ENST00000434387,;	4537	82	71	SUCCESS
TRIM67	440730	.	GRCh37	1	231337125	231337125	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370312974	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	44	103	0	ENST00000366653.5:c.1396C>T	p.Arg466Cys	p.R466C	ENST00000366653		466	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS44333.1	1396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGCGCGTC	BUFFER|p.R466R|c.1398C>T|3,BUFFER|p.R466R|c.1398C>T|3	byFrequency|byCluster	.	SMART_domains:SM00502,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS51262	.	T:0.0001	ENSP00000355613	.	5/10	.	.	.	.	.	.	.	.	rs370312974	5/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	SNV	TRIM67,missense_variant,p.Arg466Cys,ENST00000444294,;TRIM67,missense_variant,p.Arg466Cys,ENST00000366652,;TRIM67,missense_variant,p.Arg404Cys,ENST00000449018,;TRIM67,missense_variant,p.Arg466Cys,ENST00000366653,;	1396	103	119	SUCCESS
ROR1	4919	.	GRCh37	1	64644486	64644486	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs899194498	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	73	218	0	ENST00000371079.1:c.2762G>A	p.Gly921Glu	p.G921E	ENST00000371079	NM_005012.3	921	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS626.1	2762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGGAGACG	NONE	.	.	PIRSF_domain:PIRSF000624	.	.	ENSP00000360120	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371079	Transcript	.	.	ENSG00000185483	10256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.02)	.	ROR1_HUMAN	ROR1	HGNC	.	.	UPI00001AF82C	SNV	ROR1,missense_variant,p.Gly372Glu,ENST00000545203,;ROR1,missense_variant,p.Gly921Glu,ENST00000371079,;	3137	218	173	SUCCESS
GBP5	115362	.	GRCh37	1	89735097	89735097	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752091819	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	136	319	0	ENST00000370459.3:c.142C>G	p.Arg48Gly	p.R48G	ENST00000370459		48	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS722.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGATAGA	NONE	byFrequency	.	PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF40,hmmpanther:PTHR10751,Pfam_domain:PF02263,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000340396	.	3/12	.	.	.	.	.	.	.	.	rs752091819	3/12	PASS	ENST00000343435	Transcript	.	.	ENSG00000154451	19895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0)	.	GBP5_HUMAN	GBP5	HGNC	E7ETN8_HUMAN	.	UPI000004B6D7	SNV	GBP5,missense_variant,p.Arg48Gly,ENST00000443807,;GBP5,missense_variant,p.Arg48Gly,ENST00000343435,;GBP5,missense_variant,p.Arg48Gly,ENST00000370459,;RP4-620F22.2,intron_variant,,ENST00000437128,;GBP5,upstream_gene_variant,,ENST00000490568,;GBP5,upstream_gene_variant,,ENST00000481145,;	679	319	332	SUCCESS
TMC2	117532	.	GRCh37	20	2582881	2582881	+	synonymous_variant	Silent	SNP	C	C	T	rs764716948	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	64	227	0	ENST00000358864.1:c.1347C>T	p.Tyr449=	p.Y449=	ENST00000358864	NM_080751.2	449	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS13029.2	1347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACTTTGT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17	.	.	ENSP00000351732	.	11/20	.	.	.	.	.	.	.	.	rs764716948	11/20	PASS	ENST00000358864	Transcript	.	.	ENSG00000149488	16527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC2_HUMAN	TMC2	HGNC	.	.	UPI0000246C98	SNV	TMC2,synonymous_variant,p.%3D,ENST00000358864,;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	1362	227	212	SUCCESS
RALY	22913	.	GRCh37	20	32664559	32664559	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	85	0	ENST00000246194.3:c.596C>T	p.Ser199Phe	p.S199F	ENST00000246194	NM_016732.2	199	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS13230.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTCCAATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13968:SF6,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000246194	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000246194	Transcript	.	.	ENSG00000125970	15921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	tolerated(0.13)	.	RALY_HUMAN	RALY	HGNC	Q5QPM2_HUMAN,Q5QPM1_HUMAN,Q53GL6_HUMAN,B4DSJ1_HUMAN	.	UPI00000467E6	SNV	RALY,missense_variant,p.Ser183Phe,ENST00000375114,;RALY,missense_variant,p.Ser199Phe,ENST00000246194,;RALY,missense_variant,p.Ser133Phe,ENST00000333552,;RALY,missense_variant,p.Ser183Phe,ENST00000442805,;RALY,downstream_gene_variant,,ENST00000448364,;RALY,downstream_gene_variant,,ENST00000413297,;RP1-64K7.4,upstream_gene_variant,,ENST00000434926,;RALY,non_coding_transcript_exon_variant,,ENST00000493399,;RALY,upstream_gene_variant,,ENST00000489384,;RALY,downstream_gene_variant,,ENST00000488227,;RALY,non_coding_transcript_exon_variant,,ENST00000481580,;	1098	85	69	SUCCESS
PLTP	5360	.	GRCh37	20	44531198	44531198	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	52	186	0	ENST00000372431.3:c.988C>G	p.Leu330Val	p.L330V	ENST00000372431	NM_006227.3	330	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS13386.1	988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGGACCC	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF16,Gene3D:1ewfA02,Pfam_domain:PF02886,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	.	ENSP00000417138	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000477313	Transcript	.	.	ENSG00000100979	9093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.73)	.	PLTP_HUMAN	PLTP	HGNC	.	.	UPI0000131C7C	SNV	PLTP,missense_variant,p.Leu242Val,ENST00000372420,;PLTP,missense_variant,p.Leu330Val,ENST00000372431,;PLTP,missense_variant,p.Leu235Val,ENST00000420868,;PLTP,missense_variant,p.Leu350Val,ENST00000542937,;PLTP,missense_variant,p.Leu330Val,ENST00000477313,;PLTP,missense_variant,p.Leu278Val,ENST00000354050,;CTSA,downstream_gene_variant,,ENST00000372484,;CTSA,downstream_gene_variant,,ENST00000354880,;CTSA,downstream_gene_variant,,ENST00000191018,;CTSA,downstream_gene_variant,,ENST00000372459,;CTSA,downstream_gene_variant,,ENST00000607187,;CTSA,downstream_gene_variant,,ENST00000606000,;CTSA,downstream_gene_variant,,ENST00000606788,;CTSA,downstream_gene_variant,,ENST00000493522,;CTSA,downstream_gene_variant,,ENST00000484855,;	1583	186	137	SUCCESS
CHRNA4	1137	.	GRCh37	20	61990961	61990961	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	99	0	ENST00000370263.4:c.167C>T	p.Ala56Val	p.A56V	ENST00000370263	NM_000744.6	56	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13517.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGCCACG	NONE	.	.	hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000359285	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.18)	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,missense_variant,p.Ala56Val,ENST00000370263,;RP11-261N11.8,upstream_gene_variant,,ENST00000370257,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,intron_variant,,ENST00000463705,;CHRNA4,missense_variant,p.Ala31Val,ENST00000498043,;	389	99	97	SUCCESS
MICAL3	57553	.	GRCh37	22	18300440	18300440	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	56	0	ENST00000441493.2:c.4987C>G	p.Leu1663Val	p.L1663V	ENST00000441493	NM_015241.2	1663	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS46659.1	4987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGGGTGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,missense_variant,p.Leu1663Val,ENST00000441493,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;	5340	56	40	SUCCESS
LARGE	0	.	GRCh37	22	33670561	33670561	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	50	132	0	ENST00000354992.2:c.2123A>T	p.His708Leu	p.H708L	ENST00000354992	NM_004737.4	708	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS13912.1	2123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCATGAGGC	NONE	.	.	hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF18,Pfam_domain:PF13896	.	.	ENSP00000347088	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000354992	Transcript	.	.	ENSG00000133424	6511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LARGE_HUMAN	LARGE	HGNC	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN	.	UPI000012E200	SNV	LARGE,missense_variant,p.His507Leu,ENST00000452586,;LARGE,missense_variant,p.His708Leu,ENST00000354992,;LARGE,missense_variant,p.His659Leu,ENST00000437602,;LARGE,missense_variant,p.His656Leu,ENST00000337431,;LARGE,missense_variant,p.His656Leu,ENST00000402320,;LARGE,missense_variant,p.His708Leu,ENST00000397394,;LARGE,intron_variant,,ENST00000609799,;LARGE,intron_variant,,ENST00000608642,;LARGE,intron_variant,,ENST00000610186,;	2695	132	136	SUCCESS
AC079354.1	0	.	GRCh37	2	202965064	202965064	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	89	0	ENST00000541917.1:c.1047A>T	p.Arg349Ser	p.R349S	ENST00000541917		349	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	.	1047	MUTECT|MUSE	.	GCCAGAAGCAG	NONE	.	.	hmmpanther:PTHR21937	.	.	ENSP00000437957	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000541917	Transcript	.	.	ENSG00000182329	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	.	AC079354.1	Clone_based_vega_gene	F5H626_HUMAN	.	UPI00020659C3	SNV	AC079354.1,missense_variant,p.Arg405Ser,ENST00000295844,;AC079354.1,missense_variant,p.Arg349Ser,ENST00000541917,;AC079354.1,upstream_gene_variant,,ENST00000498697,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000459709,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000409515,;	1420	89	80	SUCCESS
ZNF142	7701	.	GRCh37	2	219513586	219513586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	48	93	0	ENST00000411696.2:c.1045G>T	p.Asp349Tyr	p.D349Y	ENST00000411696		349	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42817.1	1045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCACAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000398798	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000411696	Transcript	.	.	ENSG00000115568	12927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0)	.	ZN142_HUMAN	ZNF142	HGNC	C9J055_HUMAN	.	UPI000013D5FC	SNV	ZNF142,missense_variant,p.Asp349Tyr,ENST00000411696,;ZNF142,missense_variant,p.Asp349Tyr,ENST00000449707,;ZNF142,downstream_gene_variant,,ENST00000440934,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;	1825	93	130	SUCCESS
LTBP1	4052	.	GRCh37	2	33172789	33172789	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781516821	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	51	0	ENST00000404816.2:c.398A>G	p.Lys133Arg	p.K133R	ENST00000404816		133	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS33177.2	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAAACAAG	NONE	.	.	.	.	.	ENSP00000386043	.	1/34	.	.	.	.	.	.	.	.	rs781516821	1/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.43)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Lys133Arg,ENST00000404816,;LTBP1,missense_variant,p.Lys133Arg,ENST00000354476,;Y_RNA,upstream_gene_variant,,ENST00000384224,;	751	51	59	SUCCESS
ASPRV1	151516	.	GRCh37	2	70188883	70188883	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	72	0	ENST00000320256.4:c.-63G>T		p.*21*	ENST00000320256	NM_152792.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1897.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGACTAGCA	NONE	.	.	.	.	.	ENSP00000315383	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320256	Transcript	.	.	ENSG00000244617	26321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APRV1_HUMAN	ASPRV1	HGNC	.	.	UPI0000140820	SNV	ASPRV1,5_prime_UTR_variant,,ENST00000320256,;PCBP1-AS1,downstream_gene_variant,,ENST00000413436,;PCBP1-AS1,downstream_gene_variant,,ENST00000457076,;PCBP1-AS1,downstream_gene_variant,,ENST00000418564,;PCBP1-AS1,downstream_gene_variant,,ENST00000415222,;PCBP1-AS1,downstream_gene_variant,,ENST00000435880,;PCBP1-AS1,downstream_gene_variant,,ENST00000596259,;PCBP1-AS1,downstream_gene_variant,,ENST00000419542,;	515	72	64	SUCCESS
DYSF	8291	.	GRCh37	2	71755439	71755439	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs144202114	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	40	95	0	ENST00000258104.3:c.1192G>T	p.Val398Leu	p.V398L	ENST00000258104	NM_003494.3	398	Gtg/Ttg	0	A:0.0134	A:0.0091	.	A:0.0014	.	T	V/L	protein_coding	YES	CCDS46328.1	1288	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCGTGATG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	A:0	A:0.0005	ENSP00000386881	A:0	14/56	.	.	.	.	.	.	.	.	rs144202114,COSM239665	14/56	PASS	ENST00000410020	Transcript	.	A:0.0026	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.592)	A:0	tolerated(0.16)	0,1	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Val429Leu,ENST00000409582,;DYSF,missense_variant,p.Val430Leu,ENST00000410020,;DYSF,missense_variant,p.Val399Leu,ENST00000409744,;DYSF,missense_variant,p.Val398Leu,ENST00000429174,;DYSF,missense_variant,p.Val429Leu,ENST00000409762,;DYSF,missense_variant,p.Val430Leu,ENST00000410041,;DYSF,missense_variant,p.Val430Leu,ENST00000409651,;DYSF,missense_variant,p.Val399Leu,ENST00000394120,;DYSF,missense_variant,p.Val399Leu,ENST00000409366,;DYSF,missense_variant,p.Val429Leu,ENST00000413539,;DYSF,missense_variant,p.Val398Leu,ENST00000258104,;	1429	95	94	SUCCESS
DNAH6	1768	.	GRCh37	2	84777070	84777070	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	16	93	0	ENST00000237449.6:c.1374T>C	p.Asn458=	p.N458=	ENST00000237449		458	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS46348.1	1374	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAATGCTGT	BUFFER|p.T456M|c.1367C>T|3,BUFFER|p.T35M|c.104C>T|3	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676	.	.	ENSP00000374045	.	9/77	.	.	.	.	.	.	.	.	.	9/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,synonymous_variant,p.%3D,ENST00000237449,;DNAH6,synonymous_variant,p.%3D,ENST00000398278,;DNAH6,synonymous_variant,p.%3D,ENST00000389394,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,non_coding_transcript_exon_variant,,ENST00000494025,;	1511	93	95	SUCCESS
KALRN	8997	.	GRCh37	3	123987858	123987858	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	13	185	0	ENST00000240874.3:c.719C>T	p.Ala240Val	p.A240V	ENST00000240874	NM_003947.4	240	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3027.1	719	MUTECT|MUSE	.	GAAGGCCCCTG	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000240874	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.611)	.	tolerated(0.2)	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,missense_variant,p.Ala240Val,ENST00000240874,;KALRN,missense_variant,p.Ala240Val,ENST00000460856,;KALRN,missense_variant,p.Ala268Val,ENST00000448253,;KALRN,missense_variant,p.Ala218Val,ENST00000354186,;KALRN,missense_variant,p.Ala240Val,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000498499,;	876	185	182	SUCCESS
ITGA9	3680	.	GRCh37	3	37695227	37695227	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779583800	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	53	165	0	ENST00000264741.5:c.1862G>A	p.Arg621His	p.R621H	ENST00000264741	NM_002207.2	621	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS2669.1	1862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGTTCAG	NONE	byFrequency	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A02	.	.	ENSP00000264741	.	17/28	.	.	.	.	.	.	.	.	rs779583800,COSM132710	17/28	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(0.25)	0,1	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,missense_variant,p.Arg621His,ENST00000264741,;	2118	165	143	SUCCESS
HYAL3	8372	.	GRCh37	3	50332788	50332788	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	81	0	ENST00000336307.1:c.246C>T	p.Pro82=	p.P82=	ENST00000336307	NM_003549.3	82	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2815.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGGGATA	NONE	.	.	hmmpanther:PTHR11769:SF19,hmmpanther:PTHR11769,Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF500776,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445	.	.	ENSP00000337425	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000336307	Transcript	.	.	ENSG00000186792	5322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYAL3_HUMAN	HYAL3	HGNC	C9JB51_HUMAN	.	UPI000006E0AC	SNV	HYAL3,synonymous_variant,p.%3D,ENST00000450982,;HYAL3,synonymous_variant,p.%3D,ENST00000435141,;HYAL3,synonymous_variant,p.%3D,ENST00000336307,;HYAL3,synonymous_variant,p.%3D,ENST00000359051,;HYAL3,intron_variant,,ENST00000415204,;HYAL3,intron_variant,,ENST00000513170,;NAT6,downstream_gene_variant,,ENST00000417393,;NAT6,downstream_gene_variant,,ENST00000443842,;IFRD2,upstream_gene_variant,,ENST00000429673,;HYAL1,downstream_gene_variant,,ENST00000395143,;NAT6,downstream_gene_variant,,ENST00000443094,;NAT6,downstream_gene_variant,,ENST00000442620,;NAT6,downstream_gene_variant,,ENST00000354862,;IFRD2,upstream_gene_variant,,ENST00000336089,;HYAL1,downstream_gene_variant,,ENST00000320295,;HYAL1,downstream_gene_variant,,ENST00000266031,;NAT6,downstream_gene_variant,,ENST00000450489,;HYAL1,downstream_gene_variant,,ENST00000395144,;IFRD2,upstream_gene_variant,,ENST00000417626,;NAT6,downstream_gene_variant,,ENST00000452674,;IFRD2,upstream_gene_variant,,ENST00000436390,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000489569,;	519	81	57	SUCCESS
ATXN7	6314	.	GRCh37	3	63982027	63982027	+	synonymous_variant	Silent	SNP	G	G	A	rs778995089	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	10	240	0	ENST00000295900.6:c.2529G>A	p.Ser843=	p.S843=	ENST00000295900	NM_000333.3	843	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54603.1	2529	MUTECT|MUSE	.	AGCTCGAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15117:SF2,hmmpanther:PTHR15117	.	.	ENSP00000381590	.	12/14	.	.	.	.	.	.	.	.	rs778995089	12/14	PASS	ENST00000398590	Transcript	.	.	ENSG00000163635	10560	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATX7_HUMAN	ATXN7	HGNC	Q9UPD8_HUMAN,Q8TEZ8_HUMAN,H0YAT6_HUMAN	.	UPI00001B07C4	SNV	ATXN7,synonymous_variant,p.%3D,ENST00000522345,;ATXN7,synonymous_variant,p.%3D,ENST00000398590,;ATXN7,synonymous_variant,p.%3D,ENST00000295900,;ATXN7,synonymous_variant,p.%3D,ENST00000484332,;ATXN7,synonymous_variant,p.%3D,ENST00000487717,;ATXN7,synonymous_variant,p.%3D,ENST00000538065,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;ATXN7,downstream_gene_variant,,ENST00000477516,;	3082	240	211	SUCCESS
TACR3	6870	.	GRCh37	4	104640561	104640561	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	43	127	1	ENST00000304883.2:c.272C>T	p.Ala91Val	p.A91V	ENST00000304883	NM_001059.2	91	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3664.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACGCCAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00244,Prints_domain:PR00237	.	.	ENSP00000303325	.	1/5	.	.	.	.	.	.	.	.	CM119299	1/5	PASS	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	SNV	TACR3,missense_variant,p.Ala91Val,ENST00000304883,;	413	128	150	SUCCESS
PCDH10	57575	.	GRCh37	4	134075516	134075516	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	50	162	0	ENST00000264360.5:c.2686A>C	p.Asn896His	p.N896H	ENST00000264360	NM_032961.1	896	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS34063.1	2686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTAACAGG	NONE	.	.	hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028	.	.	ENSP00000264360	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.06)	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,missense_variant,p.Asn896His,ENST00000264360,;PCDH10,upstream_gene_variant,,ENST00000511112,;	3512	162	151	SUCCESS
DCHS2	54798	.	GRCh37	4	155157679	155157679	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs766247841	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	91	0	ENST00000357232.4:c.6760G>T	p.Glu2254Ter	p.E2254*	ENST00000357232	NM_017639.3	2254	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3785.1	6760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCATTTC	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	rs766247841,COSM259039	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,stop_gained,p.Glu2254Ter,ENST00000357232,;	6760	91	72	SUCCESS
ADAM29	11086	.	GRCh37	4	175896738	175896738	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	128	0	ENST00000359240.3:c.62A>C	p.Gln21Pro	p.Q21P	ENST00000359240	NM_014269.4	21	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS3823.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGATG	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.01)	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Gln21Pro,ENST00000502305,;ADAM29,missense_variant,p.Gln21Pro,ENST00000514159,;ADAM29,missense_variant,p.Gln21Pro,ENST00000502940,;ADAM29,missense_variant,p.Gln21Pro,ENST00000445694,;ADAM29,missense_variant,p.Gln21Pro,ENST00000404450,;ADAM29,missense_variant,p.Gln21Pro,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	732	128	128	SUCCESS
HTT	3064	.	GRCh37	4	3190808	3190808	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1260457762	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	104	235	0	ENST00000355072.5:c.5356A>G	p.Ile1786Val	p.I1786V	ENST00000355072	NM_002111.6	1786	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43206.1	5356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATCTTC	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	40/67	.	.	.	.	.	.	.	.	.	40/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Ile1786Val,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	5501	235	260	SUCCESS
GABRA2	2555	.	GRCh37	4	46390916	46390916	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	17	0	ENST00000356504.1:c.-193G>A		p.*65*	ENST00000356504	NM_001114175.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3471.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCCCCAC	NONE	.	.	.	.	.	ENSP00000421828	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	SNV	GABRA2,5_prime_UTR_variant,,ENST00000356504,;GABRA2,intron_variant,,ENST00000503806,;GABRA2,intron_variant,,ENST00000510861,;GABRA2,intron_variant,,ENST00000515082,;GABRA2,intron_variant,,ENST00000507460,;GABRA2,intron_variant,,ENST00000506961,;GABRA2,intron_variant,,ENST00000381620,;GABRA2,intron_variant,,ENST00000540012,;GABRA2,intron_variant,,ENST00000514090,;GABRA2,upstream_gene_variant,,ENST00000507069,;RP11-436F23.1,upstream_gene_variant,,ENST00000502455,;GABRA2,upstream_gene_variant,,ENST00000509716,;GABRA2,intron_variant,,ENST00000514193,;GABRA2,upstream_gene_variant,,ENST00000513005,;GABRA2,upstream_gene_variant,,ENST00000510233,;	.	17	23	SUCCESS
MAN2B2	23324	.	GRCh37	4	6595009	6595009	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs552037144	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	6	116	0	ENST00000285599.3:c.790G>A	p.Glu264Lys	p.E264K	ENST00000285599	NM_015274.1	264	Gag/Aag	0	.	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS33951.1	790	MUTECT|MUSE	.	ATGCCGAGGCC	NONE	by1000G	.	hmmpanther:PTHR11607:SF5,hmmpanther:PTHR11607,Gene3D:3.20.110.10,Pfam_domain:PF01074,Superfamily_domains:SSF88713	A:0	.	ENSP00000285599	A:0	6/19	.	.	.	.	.	.	.	.	rs552037144	6/19	PASS	ENST00000285599	Transcript	.	A:0.0002	ENSG00000013288	29623	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	A:0.001	tolerated(0.77)	.	MA2B2_HUMAN	MAN2B2	HGNC	Q05BN7_HUMAN,B3KQN1_HUMAN	.	UPI000004BF05	SNV	MAN2B2,missense_variant,p.Glu264Lys,ENST00000504248,;MAN2B2,missense_variant,p.Glu263Lys,ENST00000505907,;MAN2B2,missense_variant,p.Glu264Lys,ENST00000285599,;	826	116	102	SUCCESS
ENOPH1	58478	.	GRCh37	4	83378171	83378171	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs756503825	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	49	159	0	ENST00000273920.3:c.626T>G	p.Phe209Cys	p.F209C	ENST00000273920	NM_021204.3	209	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS3594.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTTCTGA	NONE	.	.	HAMAP:MF_03117,HAMAP:MF_01681,hmmpanther:PTHR20371,TIGRFAM_domain:TIGR01691,TIGRFAM_domain:TIGR01549,Pfam_domain:PF13419,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	.	.	ENSP00000273920	.	5/6	.	.	.	.	.	.	.	.	rs756503825	5/6	PASS	ENST00000273920	Transcript	.	.	ENSG00000145293	24599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ENOPH_HUMAN	ENOPH1	HGNC	D6RA00_HUMAN	.	UPI000006D6DB	SNV	ENOPH1,missense_variant,p.Phe209Cys,ENST00000273920,;ENOPH1,missense_variant,p.Phe121Cys,ENST00000509635,;ENOPH1,missense_variant,p.Phe63Cys,ENST00000505846,;	894	159	160	SUCCESS
PCDHA5	56143	.	GRCh37	5	140203294	140203294	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782395290	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	86	190	0	ENST00000529859.1:c.1934G>A	p.Arg645His	p.R645H	ENST00000529859	NM_018908.2	645	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS54917.1	1934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCCTTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	rs782395290,COSM1433828,COSM1433827	1/4	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.152)	.	deleterious_low_confidence(0.04)	0,1,1	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Arg645His,ENST00000529619,;PCDHA5,missense_variant,p.Arg645His,ENST00000378126,;PCDHA5,missense_variant,p.Arg645His,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	1934	190	235	SUCCESS
PRELID2	153768	.	GRCh37	5	145176020	145176020	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	55	0	ENST00000334744.4:c.495A>C	p.Arg165=	p.R165=	ENST00000334744	NM_182960.2	165	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS34262.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTCGTAA	NONE	.	.	PROSITE_profiles:PS50904,hmmpanther:PTHR11158,hmmpanther:PTHR11158:SF20,Pfam_domain:PF04707	.	.	ENSP00000335675	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000334744	Transcript	.	.	ENSG00000186314	28306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRLD2_HUMAN	PRELID2	HGNC	.	.	UPI000006FB14	SNV	PRELID2,synonymous_variant,p.%3D,ENST00000394450,;PRELID2,synonymous_variant,p.%3D,ENST00000358004,;PRELID2,synonymous_variant,p.%3D,ENST00000334744,;PRELID2,synonymous_variant,p.%3D,ENST00000505416,;PRELID2,synonymous_variant,p.%3D,ENST00000511435,;PRELID2,non_coding_transcript_exon_variant,,ENST00000510594,;	548	55	41	SUCCESS
CSNK1A1	1452	.	GRCh37	5	148929773	148929773	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	63	0	ENST00000377843.2:c.124-29G>A		p.*42*	ENST00000377843	NM_001271741.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47304.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCAACAT	NONE	.	.	.	.	.	ENSP00000421689	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000515768	Transcript	.	.	ENSG00000113712	2451	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1A_HUMAN	CSNK1A1	HGNC	U3KQ83_HUMAN,U3KPX3_HUMAN,B4DER9_HUMAN	.	UPI000053FD0F	SNV	CSNK1A1,5_prime_UTR_variant,,ENST00000504676,;CSNK1A1,5_prime_UTR_variant,,ENST00000515435,;CSNK1A1,intron_variant,,ENST00000377843,;CSNK1A1,intron_variant,,ENST00000515748,;CSNK1A1,intron_variant,,ENST00000515768,;CSNK1A1,intron_variant,,ENST00000261798,;ARHGEF37,upstream_gene_variant,,ENST00000505810,;CSNK1A1,intron_variant,,ENST00000523203,;RPL29P14,upstream_gene_variant,,ENST00000495837,;	.	63	70	SUCCESS
NDST1	3340	.	GRCh37	5	149927947	149927947	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	31	0	ENST00000261797.6:c.2313C>A	p.Asn771Lys	p.N771K	ENST00000261797	NM_001543.4	771	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS34277.1	2313	RADIA|SOMATICSNIPER|VARSCANS	.	GCCAACCAGGT	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000261797	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000261797	Transcript	1	.	ENSG00000070614	7680	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.13)	.	tolerated(0.29)	.	NDST1_HUMAN	NDST1	HGNC	E5RGN9_HUMAN,E5RG58_HUMAN,E5RG24_HUMAN	.	UPI000012CDA5	SNV	NDST1,missense_variant,p.Asn771Lys,ENST00000261797,;NDST1,intron_variant,,ENST00000523767,;snoU13,upstream_gene_variant,,ENST00000459561,;NDST1,upstream_gene_variant,,ENST00000521752,;	2815	32	30	SUCCESS
ITK	3702	.	GRCh37	5	156675955	156675955	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	58	0	ENST00000422843.3:c.1729T>C	p.Leu577=	p.L577=	ENST00000422843	NM_005546.3	577	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4336.1	1729	MUTECT|MUSE	.	TTCGGTTGTAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000398655	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000422843	Transcript	1	.	ENSG00000113263	6171	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITK_HUMAN	ITK	HGNC	Q7Z318_HUMAN,E5RFR5_HUMAN	.	UPI000004CADA	SNV	ITK,synonymous_variant,p.%3D,ENST00000422843,;ITK,non_coding_transcript_exon_variant,,ENST00000519749,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,downstream_gene_variant,,ENST00000520173,;ITK,downstream_gene_variant,,ENST00000523926,;	1881	58	72	SUCCESS
FCHO2	115548	.	GRCh37	5	72347205	72347205	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	C	C	AA	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	105	0	ENST00000430046.2:c.969delinsAA	p.Tyr323Ter	p.Y323*	ENST00000430046	NM_138782.2	323	taC/taAA	0	.	.	.	.	.	AA	Y/*	protein_coding	YES	CCDS47230.1	969	INDELOCATOR*|PINDEL	.	AGGCTACAGTAT	NONE	.	.	hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8	.	.	ENSP00000393776	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000430046	Transcript	.	.	ENSG00000157107	25180	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FCHO2_HUMAN	FCHO2	HGNC	B4DEU7_HUMAN	.	UPI000019971A	substitution	FCHO2,stop_gained,p.Tyr290Ter,ENST00000512348,;FCHO2,stop_gained,p.Tyr323Ter,ENST00000341845,;FCHO2,stop_gained,p.Tyr323Ter,ENST00000430046,;FCHO2,non_coding_transcript_exon_variant,,ENST00000503302,;	1085	105	82	SUCCESS
GFM2	84340	.	GRCh37	5	74026206	74026206	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	48	131	0	ENST00000296805.3:c.1605G>C	p.Met535Ile	p.M535I	ENST00000296805	NM_032380.4	535	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS4023.1	1605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCCATACC	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Gene3D:3.30.70.870,Pfam_domain:PF14492,Superfamily_domains:SSF54980	.	.	ENSP00000296805	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000296805	Transcript	.	.	ENSG00000164347	29682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	deleterious(0)	.	RRF2M_HUMAN	GFM2	HGNC	D6RF75_HUMAN	.	UPI0000129CA7	SNV	GFM2,missense_variant,p.Met488Ile,ENST00000345239,;GFM2,missense_variant,p.Met535Ile,ENST00000509430,;GFM2,missense_variant,p.Met535Ile,ENST00000296805,;GFM2,non_coding_transcript_exon_variant,,ENST00000514734,;GFM2,intron_variant,,ENST00000515125,;GFM2,non_coding_transcript_exon_variant,,ENST00000506263,;	2063	131	125	SUCCESS
POLK	51426	.	GRCh37	5	74872759	74872759	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	77	0	ENST00000241436.4:c.694+1G>C		p.X232_splice	ENST00000241436	NM_016218.2	232		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4030.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGTAAGC	NONE	.	.	.	.	.	ENSP00000241436	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000241436	Transcript	.	.	ENSG00000122008	9183	.	.	HIGH	6/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POLK_HUMAN	POLK	HGNC	D6RDX9_HUMAN	.	UPI0000073EF6	SNV	POLK,splice_donor_variant,,ENST00000352007,;POLK,splice_donor_variant,,ENST00000515295,;POLK,splice_donor_variant,,ENST00000380481,;POLK,splice_donor_variant,,ENST00000504026,;POLK,splice_donor_variant,,ENST00000241436,;POLK,splice_donor_variant,,ENST00000508526,;POLK,downstream_gene_variant,,ENST00000514296,;POLK,splice_donor_variant,,ENST00000506928,;POLK,downstream_gene_variant,,ENST00000507073,;POLK,splice_donor_variant,,ENST00000514141,;POLK,splice_donor_variant,,ENST00000509126,;POLK,splice_donor_variant,,ENST00000510815,;POLK,splice_donor_variant,,ENST00000508867,;POLK,splice_donor_variant,,ENST00000511527,;POLK,splice_donor_variant,,ENST00000505975,;POLK,splice_donor_variant,,ENST00000503479,;	.	77	58	SUCCESS
TFEB	7942	.	GRCh37	6	41655675	41655675	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370711905	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	71	196	0	ENST00000230323.4:c.641C>T	p.Ala214Val	p.A214V	ENST00000230323	NM_007162.2	214	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS4858.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGCAGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF9	.	A:0.0001	ENSP00000230323	.	6/10	.	.	.	.	.	.	.	.	rs370711905	6/10	PASS	ENST00000230323	Transcript	.	.	ENSG00000112561	11753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.592)	.	deleterious(0)	.	TFEB_HUMAN	TFEB	HGNC	Q86WB1_HUMAN,Q709A9_HUMAN,Q709A8_HUMAN,B1AKB4_HUMAN,B1AKB2_HUMAN,B1AKB1_HUMAN,B1AKA9_HUMAN	.	UPI0000001615	SNV	TFEB,missense_variant,p.Ala214Val,ENST00000416140,;TFEB,missense_variant,p.Ala228Val,ENST00000358871,;TFEB,missense_variant,p.Ala129Val,ENST00000420312,;TFEB,missense_variant,p.Ala214Val,ENST00000230323,;TFEB,missense_variant,p.Ala214Val,ENST00000419574,;TFEB,missense_variant,p.Ala214Val,ENST00000403298,;TFEB,missense_variant,p.Ala214Val,ENST00000373033,;TFEB,missense_variant,p.Ala214Val,ENST00000394283,;TFEB,missense_variant,p.Ala214Val,ENST00000419396,;TFEB,missense_variant,p.Ala72Val,ENST00000406563,;TFEB,missense_variant,p.Ala300Val,ENST00000343317,;AL035588.1,downstream_gene_variant,,ENST00000597468,;TFEB,downstream_gene_variant,,ENST00000424495,;TFEB,downstream_gene_variant,,ENST00000433032,;TFEB,downstream_gene_variant,,ENST00000445700,;TFEB,downstream_gene_variant,,ENST00000445214,;TFEB,downstream_gene_variant,,ENST00000425401,;TFEB,non_coding_transcript_exon_variant,,ENST00000494822,;	943	197	181	SUCCESS
KMT2E	55904	.	GRCh37	7	104747073	104747073	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200234811	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	49	153	0	ENST00000257745.4:c.2701A>G	p.Thr901Ala	p.T901A	ENST00000257745	NM_018682.3	901	Acc/Gcc	0	T:0	.	.	.	.	G	T/A	protein_coding	YES	CCDS34723.1	2701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACACCGAT	BUFFER|p.D902N|c.2704G>A|3	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	T:0.0003	ENSP00000312379	.	20/27	.	.	.	.	.	.	.	.	rs200234811	20/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.89)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Thr901Ala,ENST00000257745,;KMT2E,missense_variant,p.Thr901Ala,ENST00000311117,;KMT2E,missense_variant,p.Thr901Ala,ENST00000334877,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,upstream_gene_variant,,ENST00000473063,;KMT2E,downstream_gene_variant,,ENST00000479838,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,intron_variant,,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;	3246	153	185	SUCCESS
KDM7A	80853	.	GRCh37	7	139798778	139798778	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	305	98	318	1	ENST00000397560.2:c.1819G>A	p.Glu607Lys	p.E607K	ENST00000397560	NM_030647.1	607	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43658.1	1819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCATTTT	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15	.	.	ENSP00000380692	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.22)	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,missense_variant,p.Glu607Lys,ENST00000006967,;KDM7A,missense_variant,p.Glu607Lys,ENST00000397560,;Y_RNA,upstream_gene_variant,,ENST00000515919,;KDM7A,missense_variant,p.Glu202Lys,ENST00000472616,;	1917	319	403	SUCCESS
MGAM	8972	.	GRCh37	7	141726934	141726934	+	synonymous_variant	Silent	SNP	G	G	T	rs782793080	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	47	92	0	ENST00000549489.2:c.1002G>T	p.Ala334=	p.A334=	ENST00000549489	NM_004668.2	334	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47727.1	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGCCAGC	NONE	byFrequency	.	Superfamily_domains:SSF74650,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	9/48	.	.	.	.	.	.	.	.	rs782793080	9/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,synonymous_variant,p.%3D,ENST00000475668,;MGAM,synonymous_variant,p.%3D,ENST00000549489,;MGAM,upstream_gene_variant,,ENST00000495045,;	1097	92	161	SUCCESS
SMARCD3	6604	.	GRCh37	7	150945734	150945734	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	33	0	ENST00000262188.8:c.-86G>A		p.*29*	ENST00000262188	NM_001003801.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34780.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCTCCCCTCT	NONE	.	.	.	.	.	ENSP00000262188	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000262188	Transcript	.	.	ENSG00000082014	11108	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMRD3_HUMAN	SMARCD3	HGNC	.	.	UPI000022D4B4	SNV	SMARCD3,5_prime_UTR_variant,,ENST00000262188,;SMARCD3,intron_variant,,ENST00000491651,;SMARCD3,intron_variant,,ENST00000392811,;SMARCD3,intron_variant,,ENST00000356800,;RP5-1070G24.2,upstream_gene_variant,,ENST00000466775,;SMARCD3,intron_variant,,ENST00000477169,;SMARCD3,upstream_gene_variant,,ENST00000460431,;SMARCD3,non_coding_transcript_exon_variant,,ENST00000472988,;SMARCD3,intron_variant,,ENST00000469154,;SMARCD3,upstream_gene_variant,,ENST00000472103,;SMARCD3,upstream_gene_variant,,ENST00000485592,;SMARCD3,upstream_gene_variant,,ENST00000485610,;	326	33	17	SUCCESS
GLI3	2737	.	GRCh37	7	42005030	42005030	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	73	0	ENST00000395925.3:c.3641A>C	p.Gln1214Pro	p.Q1214P	ENST00000395925	NM_000168.5	1214	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS5465.1	3641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCTGATAG	NONE	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.15)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Gln1214Pro,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	3726	73	68	SUCCESS
RNF216P1	441191	.	GRCh37	7	5036869	5036869	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	11	0	ENST00000471244.1:n.2703G>A		p.*901*	ENST00000471244				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAAGGCTGA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000471244	Transcript	.	.	ENSG00000196204	33610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNF216P1	HGNC	.	.	.	SNV	RBAK-RBAKDN,intron_variant,,ENST00000407184,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000403969,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000471244,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000404006,;RNF216P1,intron_variant,,ENST00000494947,;RNF216P1,downstream_gene_variant,,ENST00000464479,;RNF216P1,downstream_gene_variant,,ENST00000405396,;RNF216P1,downstream_gene_variant,,ENST00000477090,;RNF216P1,downstream_gene_variant,,ENST00000406608,;RNF216P1,downstream_gene_variant,,ENST00000406089,;RNF216P1,non_coding_transcript_exon_variant,,ENST00000404404,;RNF216P1,downstream_gene_variant,,ENST00000360944,;	2703	11	30	SUCCESS
ELN	2006	.	GRCh37	7	73477959	73477959	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	372	23	315	0	ENST00000358929.4:c.2131G>A	p.Gly711Arg	p.G711R	ENST00000358929	NM_001278939.1	711	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS5562.2	1927	MUTECT|MUSE	.	TAGTGGGAGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24018:SF2,hmmpanther:PTHR24018	.	.	ENSP00000252034	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000252034	Transcript	.	.	ENSG00000049540	3327	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	ELN_HUMAN	ELN	HGNC	Q9UMK5_HUMAN	.	UPI0000D4A0DC	SNV	ELN,missense_variant,p.Gly629Arg,ENST00000429192,;ELN,missense_variant,p.Gly649Arg,ENST00000380562,;ELN,missense_variant,p.Gly507Arg,ENST00000380553,;ELN,missense_variant,p.Gly711Arg,ENST00000358929,;ELN,missense_variant,p.Gly643Arg,ENST00000252034,;ELN,missense_variant,p.Gly676Arg,ENST00000320399,;ELN,missense_variant,p.Gly624Arg,ENST00000380576,;ELN,missense_variant,p.Gly614Arg,ENST00000380575,;ELN,missense_variant,p.Gly562Arg,ENST00000320492,;ELN,missense_variant,p.Gly633Arg,ENST00000458204,;ELN,missense_variant,p.Gly643Arg,ENST00000445912,;ELN,missense_variant,p.Gly648Arg,ENST00000357036,;ELN,missense_variant,p.Gly595Arg,ENST00000380584,;ELN,missense_variant,p.Gly619Arg,ENST00000414324,;CTB-51J22.1,upstream_gene_variant,,ENST00000435932,;	2326	315	395	SUCCESS
RP1L1	94137	.	GRCh37	8	10469481	10469481	+	synonymous_variant	Silent	SNP	C	C	T	rs367955605	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	87	0	ENST00000382483.3:c.2127G>A	p.Ser709=	p.S709=	ENST00000382483	NM_178857.5	709	tcG/tcA	0	G:0.0005	.	.	.	.	T	S	protein_coding	YES	CCDS43708.1	2127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTCGATGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	G:0	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	rs367955605	4/4	common_in_exac	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,synonymous_variant,p.%3D,ENST00000382483,;	2351	87	104	SUCCESS
FKBP15	23307	.	GRCh37	9	115938874	115938876	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	CAC	CAC	.	.	.	.	.	.	.	.	.	.	.	.	.	197	95	296	0	ENST00000238256.3:c.2164_2166del	p.Val722del	p.V722del	ENST00000238256	NM_015258.1	722	GTG/-	0	.	.	.	.	.	-	V/-	protein_coding	YES	CCDS48007.1	2164-2166	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATGTCACCTTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF178	.	.	ENSP00000238256	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000238256	Transcript	.	.	ENSG00000119321	23397	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FKB15_HUMAN	FKBP15	HGNC	B4DZS8_HUMAN	.	UPI000022D996	deletion	FKBP15,inframe_deletion,p.Val722del,ENST00000238256,;FKBP15,inframe_deletion,p.Val747del,ENST00000446284,;	2282-2284	296	292	SUCCESS
C5	727	.	GRCh37	9	123785770	123785770	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	7	169	0	ENST00000223642.1:c.1028C>T	p.Pro343Leu	p.P343L	ENST00000223642	NM_001735.2	343	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6826.1	1028	MUTECT|MUSE	.	TGCCAGGTATT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83	.	.	ENSP00000223642	.	10/41	.	.	.	.	.	.	.	.	.	10/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.06)	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,missense_variant,p.Pro343Leu,ENST00000223642,;C5,downstream_gene_variant,,ENST00000460578,;	1058	169	197	SUCCESS
ASB6	140459	.	GRCh37	9	132400301	132400301	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	49	0	ENST00000277458.4:c.1034A>C	p.Asn345Thr	p.N345T	ENST00000277458	NM_017873.3	345	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS6924.1	1034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGTTTTCG	BUFFER|p.F346F|c.1038C>T|3	.	.	hmmpanther:PTHR24132:SF0,hmmpanther:PTHR24132	.	.	ENSP00000277458	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000277458	Transcript	.	.	ENSG00000148331	17181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	tolerated(0.08)	.	ASB6_HUMAN	ASB6	HGNC	.	.	UPI000004A09F	SNV	ASB6,missense_variant,p.Asn345Thr,ENST00000277458,;ASB6,missense_variant,p.Asn266Thr,ENST00000450050,;ASB6,3_prime_UTR_variant,,ENST00000277459,;NTMT1,downstream_gene_variant,,ENST00000372481,;NTMT1,downstream_gene_variant,,ENST00000372486,;NTMT1,downstream_gene_variant,,ENST00000482347,;NTMT1,downstream_gene_variant,,ENST00000459968,;NTMT1,downstream_gene_variant,,ENST00000372483,;NTMT1,downstream_gene_variant,,ENST00000372480,;RP11-483H20.4,upstream_gene_variant,,ENST00000455074,;NTMT1,downstream_gene_variant,,ENST00000486391,;NTMT1,downstream_gene_variant,,ENST00000481189,;	1200	49	59	SUCCESS
FAM69B	0	.	GRCh37	9	139617874	139617874	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs772841835	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	42	0	ENST00000371692.4:c.944A>C	p.Asp315Ala	p.D315A	ENST00000371692	NM_152421.3	315	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS7004.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGACCTGC	NONE	.	.	hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF3,Pfam_domain:PF12260	.	.	ENSP00000360757	.	5/5	.	.	.	.	.	.	.	.	rs772841835	5/5	PASS	ENST00000371692	Transcript	.	.	ENSG00000165716	28290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	FA69B_HUMAN	FAM69B	HGNC	.	.	UPI000013E4F3	SNV	FAM69B,missense_variant,p.Asp228Ala,ENST00000371691,;FAM69B,missense_variant,p.Asp315Ala,ENST00000371692,;SNHG7,downstream_gene_variant,,ENST00000391185,;SNHG7,downstream_gene_variant,,ENST00000362567,;SNHG7,intron_variant,,ENST00000414282,;SNHG7,downstream_gene_variant,,ENST00000416970,;SNHG7,downstream_gene_variant,,ENST00000447221,;SNHG7,downstream_gene_variant,,ENST00000436596,;	1040	42	32	SUCCESS
LCNL1	401562	.	GRCh37	9	139878137	139878137	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	47	144	0	ENST00000408973.2:c.99G>T	p.Leu33=	p.L33=	ENST00000408973	NM_207510.3	33	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43908.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGGCCCT	NONE	.	.	Superfamily_domains:SSF50814,Pfam_domain:PF00061,Gene3D:2.40.128.20,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF69	.	.	ENSP00000386162	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000408973	Transcript	.	.	ENSG00000214402	34436	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCNL1_HUMAN	LCNL1	HGNC	Q6ZSQ0_HUMAN,F2Z3E7_HUMAN	.	UPI0000251FB0	SNV	LCNL1,synonymous_variant,p.%3D,ENST00000408973,;PTGDS,downstream_gene_variant,,ENST00000224167,;PTGDS,downstream_gene_variant,,ENST00000444903,;PTGDS,downstream_gene_variant,,ENST00000446677,;PTGDS,downstream_gene_variant,,ENST00000457950,;PTGDS,downstream_gene_variant,,ENST00000371625,;PTGDS,downstream_gene_variant,,ENST00000371623,;PTGDS,downstream_gene_variant,,ENST00000462514,;PTGDS,downstream_gene_variant,,ENST00000492068,;PTGDS,downstream_gene_variant,,ENST00000467871,;PTGDS,downstream_gene_variant,,ENST00000460340,;LCNL1,upstream_gene_variant,,ENST00000432827,;LCNL1,synonymous_variant,p.%3D,ENST00000482657,;LCNL1,synonymous_variant,p.%3D,ENST00000460177,;PTGDS,3_prime_UTR_variant,,ENST00000471521,;	693	144	142	SUCCESS
TDGF1P3	6998	.	GRCh37	X	109764286	109764286	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	68	0	ENST00000602699.1:n.747T>G		p.*249*	ENST00000602699				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTTTGGC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000602699	Transcript	.	.	ENSG00000225366	11703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TDGF1P3	HGNC	.	.	.	SNV	TDGF1P3,non_coding_transcript_exon_variant,,ENST00000602699,;TDGF1P3,upstream_gene_variant,,ENST00000493351,;	747	68	73	SUCCESS
ZNF449	203523	.	GRCh37	X	134482047	134482047	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	91	183	0	ENST00000339249.4:c.354+650A>C		p.*118*	ENST00000339249	NM_152695.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14649.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCAAGTAC	NONE	.	.	.	.	.	ENSP00000339585	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339249	Transcript	.	.	ENSG00000173275	21039	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN449_HUMAN	ZNF449	HGNC	Q7Z3P1_HUMAN	.	UPI000013F1DE	SNV	ZNF449,3_prime_UTR_variant,,ENST00000370761,;ZNF449,intron_variant,,ENST00000370760,;ZNF449,intron_variant,,ENST00000339249,;ZNF75D,upstream_gene_variant,,ENST00000370766,;ZNF75D,upstream_gene_variant,,ENST00000494295,;	.	183	212	SUCCESS
IDS	3423	.	GRCh37	X	148582537	148582537	+	synonymous_variant	Silent	SNP	C	C	T	rs201892132	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	82	0	ENST00000340855.6:c.450G>A	p.Pro150=	p.P150=	ENST00000340855	NM_001166550.1	150	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS14685.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATACGGAGA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF185	.	T:0.0001	ENSP00000339801	.	4/9	.	.	.	.	.	.	.	.	rs201892132	4/9	PASS	ENST00000340855	Transcript	.	.	ENSG00000010404	5389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDS_HUMAN	IDS	HGNC	E5RHJ1_HUMAN,B4DIX1_HUMAN,B3KWA1_HUMAN	.	UPI000012D213	SNV	IDS,synonymous_variant,p.%3D,ENST00000370443,;IDS,synonymous_variant,p.%3D,ENST00000370441,;IDS,synonymous_variant,p.%3D,ENST00000340855,;IDS,5_prime_UTR_variant,,ENST00000541269,;IDS,5_prime_UTR_variant,,ENST00000422081,;IDS,downstream_gene_variant,,ENST00000521702,;IDS,downstream_gene_variant,,ENST00000428056,;IDS,non_coding_transcript_exon_variant,,ENST00000523759,;IDS,non_coding_transcript_exon_variant,,ENST00000490775,;IDS,intron_variant,,ENST00000441880,;IDS,downstream_gene_variant,,ENST00000427113,;IDS,upstream_gene_variant,,ENST00000466019,;IDS,synonymous_variant,p.%3D,ENST00000466323,;IDS,3_prime_UTR_variant,,ENST00000464251,;	660	82	85	SUCCESS
POLA1	5422	.	GRCh37	X	24744103	24744103	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	170	380	0	ENST00000379059.3:c.1305G>T	p.Val435=	p.V435=	ENST00000379059	NM_016937.3	435	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14214.1	1305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGGAAAA	NONE	.	.	hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Pfam_domain:PF03104,TIGRFAM_domain:TIGR00592,Superfamily_domains:SSF53098	.	.	ENSP00000368349	.	13/37	.	.	.	.	.	.	.	.	.	13/37	PASS	ENST00000379059	Transcript	.	.	ENSG00000101868	9173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLA_HUMAN	POLA1	HGNC	.	.	UPI000014D383	SNV	POLA1,synonymous_variant,p.%3D,ENST00000379059,;POLA1,synonymous_variant,p.%3D,ENST00000379068,;POLA1,upstream_gene_variant,,ENST00000493342,;	1320	380	409	SUCCESS
SORCS1	114815	.	GRCh37	10	108339225	108339225	+	synonymous_variant	Silent	SNP	C	C	A	rs142773000	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	44	1	ENST00000263054.6:c.3273G>T	p.Leu1091=	p.L1091=	ENST00000263054	NM_001206570.1	1091	ctG/ctT	0	A:0	.	.	.	.	A	L	protein_coding	YES	CCDS31283.1	3273	MUTECT|MUSE	.	TCCACCAGGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106	.	A:0.0003	ENSP00000345964	.	25/27	.	.	.	.	.	.	.	.	rs142773000	25/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,synonymous_variant,p.%3D,ENST00000263054,;SORCS1,synonymous_variant,p.%3D,ENST00000369698,;SORCS1,synonymous_variant,p.%3D,ENST00000452214,;SORCS1,synonymous_variant,p.%3D,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	3273	45	30	SUCCESS
MALRD1	340895	.	GRCh37	10	19780493	19780493	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748232359	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	43	0	ENST00000454679.2:c.3175C>T	p.Arg1059Trp	p.R1059W	ENST00000454679		1059	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	.	3214	RADIA|MUTECT|MUSE	.	TGTGCCGGGAC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF57424,SMART_domains:SM00192,Pfam_domain:PF00057,Gene3D:4.10.400.10,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,PROSITE_profiles:PS50068	.	.	ENSP00000366477	.	17/25	.	.	.	.	.	.	.	.	rs748232359	17/25	PASS	ENST00000377266	Transcript	.	.	ENSG00000204740	24331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.12)	.	.	MALRD1	HGNC	U5GXS0_HUMAN	.	UPI000191551D	SNV	MALRD1,missense_variant,p.Arg1059Trp,ENST00000454679,;MALRD1,missense_variant,p.Arg256Trp,ENST00000441070,;MALRD1,missense_variant,p.Arg44Trp,ENST00000377265,;MALRD1,missense_variant,p.Arg1072Trp,ENST00000377266,;MALRD1,5_prime_UTR_variant,,ENST00000455457,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;RP11-265G8.3,upstream_gene_variant,,ENST00000427935,;HMGN1P20,downstream_gene_variant,,ENST00000411849,;	3214	43	50	SUCCESS
NDST2	8509	.	GRCh37	10	75567215	75567215	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377733383	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	92	0	ENST00000299641.4:c.563G>A	p.Arg188His	p.R188H	ENST00000299641	NM_003635.3	188	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7335.1	932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGCGGTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36,Pfam_domain:PF12062	.	T:0.0001	ENSP00000310657	.	3/15	.	.	.	.	.	.	.	.	rs377733383	3/15	PASS	ENST00000309979	Transcript	.	.	ENSG00000166507	7681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NDST2_HUMAN	NDST2	HGNC	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN	.	UPI0000001C41	SNV	NDST2,missense_variant,p.Arg188His,ENST00000299641,;NDST2,missense_variant,p.Arg311His,ENST00000309979,;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,non_coding_transcript_exon_variant,,ENST00000463410,;NDST2,downstream_gene_variant,,ENST00000465929,;NDST2,downstream_gene_variant,,ENST00000398701,;RP11-574K11.31,missense_variant,p.Arg311His,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;	1489	92	78	SUCCESS
PHLDB1	23187	.	GRCh37	11	118513074	118513074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	20	0	ENST00000361417.2:c.2839C>A	p.Pro947Thr	p.P947T	ENST00000361417	NM_015157.3	947	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS8401.1	2839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16	.	.	ENSP00000354498	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000361417	Transcript	.	.	ENSG00000019144	23697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.04)	.	PHLB1_HUMAN	PHLDB1	HGNC	.	.	UPI0000192101	SNV	PHLDB1,missense_variant,p.Pro90Thr,ENST00000524713,;PHLDB1,missense_variant,p.Pro947Thr,ENST00000361417,;PHLDB1,intron_variant,,ENST00000527898,;PHLDB1,intron_variant,,ENST00000356063,;AP002954.3,downstream_gene_variant,,ENST00000530198,;PHLDB1,intron_variant,,ENST00000534140,;PHLDB1,intron_variant,,ENST00000528875,;PHLDB1,intron_variant,,ENST00000534672,;PHLDB1,upstream_gene_variant,,ENST00000529005,;PHLDB1,downstream_gene_variant,,ENST00000527500,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000531987,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000526826,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000392852,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,intron_variant,,ENST00000528594,;PHLDB1,intron_variant,,ENST00000531862,;PHLDB1,intron_variant,,ENST00000525698,;PHLDB1,intron_variant,,ENST00000530994,;PHLDB1,downstream_gene_variant,,ENST00000526699,;PHLDB1,upstream_gene_variant,,ENST00000526537,;PHLDB1,upstream_gene_variant,,ENST00000525226,;	3250	20	21	SUCCESS
KRTAP5-4	387267	.	GRCh37	11	1642677	1642677	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	75	0	ENST00000399682.1:c.647C>A	p.Ser216Tyr	p.S216Y	ENST00000399682	NM_001012709.1	216	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	.	647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTAGACTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262	.	.	ENSP00000382590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399682	Transcript	.	.	ENSG00000241598	23599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	KRTAP5-4	HGNC	A8MUN0_HUMAN	.	UPI0000E592E4	SNV	KRTAP5-4,missense_variant,p.Ser216Tyr,ENST00000399682,;	692	75	61	SUCCESS
CCDC73	493860	.	GRCh37	11	32635624	32635625	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	99	0	ENST00000335185.5:c.2239dup	p.Thr747AsnfsTer4	p.T747Nfs*4	ENST00000335185	NM_001008391.3	747	act/aAct	0	.	.	.	.	.	T	T/NX	protein_coding	YES	CCDS41630.1	2239-2240	INDELOCATOR*|VARSCANI*|PINDEL	.	ACATAGTTTTT	NONE	.	.	.	.	.	ENSP00000335325	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000335185	Transcript	.	.	ENSG00000186714	23261	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD73_HUMAN	CCDC73	HGNC	.	.	UPI000066725E	insertion	CCDC73,frameshift_variant,p.Thr747AsnfsTer4,ENST00000335185,;CCDC73,intron_variant,,ENST00000528333,;CCDC73,downstream_gene_variant,,ENST00000534415,;	2283-2284	99	90	SUCCESS
TRIM21	6737	.	GRCh37	11	4411479	4411479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	72	0	ENST00000254436.7:c.161G>A	p.Cys54Tyr	p.C54Y	ENST00000254436	NM_003141.3	54	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS44525.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCACACA	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF46,hmmpanther:PTHR24103,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00504,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000254436	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000254436	Transcript	.	.	ENSG00000132109	11312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RO52_HUMAN	TRIM21	HGNC	.	.	UPI000013450B	SNV	TRIM21,missense_variant,p.Cys54Tyr,ENST00000254436,;TRIM21,missense_variant,p.Cys54Tyr,ENST00000543625,;TRIM21,upstream_gene_variant,,ENST00000533692,;	274	72	60	SUCCESS
HBG1	3047	.	GRCh37	11	5269688	5269688	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	54	189	0	ENST00000330597.3:c.345G>A	p.Leu115=	p.L115=	ENST00000330597	NM_000559.2	115	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7754.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCCAAAAC	NONE	.	.	Superfamily_domains:SSF46458,Gene3D:1.10.490.10,hmmpanther:PTHR11442,PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF34	.	.	ENSP00000327431	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000330597	Transcript	.	.	ENSG00000213934	4831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBG1_HUMAN	HBG1	HGNC	D9YZU8_HUMAN	.	UPI00000711A9	SNV	HBG1,synonymous_variant,p.%3D,ENST00000330597,;HBG2,downstream_gene_variant,,ENST00000380252,;HBG2,downstream_gene_variant,,ENST00000380259,;HBG2,downstream_gene_variant,,ENST00000336906,;CTD-2643I7.1,upstream_gene_variant,,ENST00000564523,;HBG2,downstream_gene_variant,,ENST00000444587,;HBBP1,upstream_gene_variant,,ENST00000433329,;	433	189	172	SUCCESS
SF3B2	10992	.	GRCh37	11	65828070	65828070	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	63	0	ENST00000322535.6:c.1647G>T	p.Met549Ile	p.M549I	ENST00000322535	NM_006842.2	549	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31612.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGAAGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12785,hmmpanther:PTHR12785:SF6,Pfam_domain:PF04037	.	.	ENSP00000318861	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000322535	Transcript	.	.	ENSG00000087365	10769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.289)	.	deleterious(0.02)	.	SF3B2_HUMAN	SF3B2	HGNC	E9PIL8_HUMAN	.	UPI00001C1F20	SNV	SF3B2,missense_variant,p.Met549Ile,ENST00000322535,;SF3B2,missense_variant,p.Met532Ile,ENST00000528302,;SF3B2,upstream_gene_variant,,ENST00000530981,;SF3B2,downstream_gene_variant,,ENST00000530322,;SF3B2,downstream_gene_variant,,ENST00000524627,;SF3B2,downstream_gene_variant,,ENST00000533595,;SF3B2,non_coding_transcript_exon_variant,,ENST00000529994,;SF3B2,upstream_gene_variant,,ENST00000534765,;SF3B2,downstream_gene_variant,,ENST00000526653,;SF3B2,downstream_gene_variant,,ENST00000525207,;	1696	63	47	SUCCESS
CAPZA3	93661	.	GRCh37	12	18892064	18892064	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	93	1	ENST00000317658.3:c.862A>G	p.Ile288Val	p.I288V	ENST00000317658	NM_033328.2	288	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8681.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCATTTAT	NONE	.	.	.	.	.	ENSP00000326238	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317658	Transcript	.	.	ENSG00000177938	24205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.52)	.	CAZA3_HUMAN	CAPZA3	HGNC	.	.	UPI00001270FE	SNV	CAPZA3,missense_variant,p.Ile288Val,ENST00000317658,;PLCZ1,upstream_gene_variant,,ENST00000447925,;PLCZ1,upstream_gene_variant,,ENST00000435379,;PLCZ1,upstream_gene_variant,,ENST00000541966,;PLCZ1,upstream_gene_variant,,ENST00000266505,;PLCZ1,upstream_gene_variant,,ENST00000539072,;PLCZ1,upstream_gene_variant,,ENST00000539875,;PLCZ1,upstream_gene_variant,,ENST00000543242,;RP11-361I14.2,downstream_gene_variant,,ENST00000536931,;PLCZ1,upstream_gene_variant,,ENST00000541109,;PLCZ1,upstream_gene_variant,,ENST00000545129,;PLCZ1,upstream_gene_variant,,ENST00000318197,;PLCZ1,upstream_gene_variant,,ENST00000539207,;PLCZ1,upstream_gene_variant,,ENST00000544849,;PLCZ1,upstream_gene_variant,,ENST00000535429,;	1020	94	80	SUCCESS
BEST3	144453	.	GRCh37	12	70049144	70049144	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs773780993	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	52	0	ENST00000330891.5:c.1550del	p.Gly517AlafsTer11	p.G517Afs*11	ENST00000330891	NM_032735.2	517	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS8992.2	1550	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTAGCCCCCT	NONE	byFrequency	.	hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2	.	.	ENSP00000332413	.	10/10	.	.	.	.	.	.	.	.	rs773780993	10/10	PASS	ENST00000330891	Transcript	.	.	ENSG00000127325	17105	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BEST3_HUMAN	BEST3	HGNC	F8VVZ2_HUMAN	.	UPI000006E397	deletion	BEST3,frameshift_variant,p.Gly517AlafsTer11,ENST00000330891,;BEST3,frameshift_variant,p.Gly411AlafsTer11,ENST00000553096,;BEST3,frameshift_variant,p.Gly304AlafsTer11,ENST00000488961,;BEST3,intron_variant,,ENST00000331471,;BEST3,intron_variant,,ENST00000547208,;	1777	52	73	SUCCESS
SPACA7	122258	.	GRCh37	13	113047360	113047360	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	45	0	ENST00000283550.3:c.120T>C	p.Ser40=	p.S40=	ENST00000283550	NM_145248.4	40	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9524.1	120	RADIA|MUSE|VARSCANS	.	TTCAGTTCAAA	NONE	.	.	Pfam_domain:PF15307	.	.	ENSP00000283550	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000283550	Transcript	.	.	ENSG00000153498	29575	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPAC7_HUMAN	SPACA7	HGNC	.	.	UPI000013DD4B	SNV	SPACA7,synonymous_variant,p.%3D,ENST00000283550,;SPACA7,synonymous_variant,p.%3D,ENST00000443541,;SPACA7,synonymous_variant,p.%3D,ENST00000414180,;SPACA7,intron_variant,,ENST00000375699,;	187	45	36	SUCCESS
POSTN	10631	.	GRCh37	13	38159033	38159033	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	36	119	0	ENST00000379747.4:c.928del	p.Gln310SerfsTer22	p.Q310Sfs*22	ENST00000379747	NM_006475.2	310	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS9364.1	928	INDELOCATOR*|VARSCANI*|PINDEL	.	AACACTGGAGAG	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	deletion	POSTN,frameshift_variant,p.Gln310SerfsTer22,ENST00000379747,;POSTN,frameshift_variant,p.Gln310SerfsTer22,ENST00000379749,;POSTN,frameshift_variant,p.Gln310SerfsTer22,ENST00000541481,;POSTN,frameshift_variant,p.Gln310SerfsTer22,ENST00000379743,;POSTN,frameshift_variant,p.Gln310SerfsTer22,ENST00000541179,;POSTN,frameshift_variant,p.Gln310SerfsTer22,ENST00000379742,;	1046	119	137	SUCCESS
FREM2	341640	.	GRCh37	13	39338482	39338482	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs781533312	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	42	162	0	ENST00000280481.7:c.5305G>C	p.Ala1769Pro	p.A1769P	ENST00000280481	NM_207361.4	1769	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS31960.1	5305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGCATGG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000280481	.	3/24	.	.	.	.	.	.	.	.	rs781533312	3/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	deleterious(0)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Ala1769Pro,ENST00000280481,;	5521	162	128	SUCCESS
PNP	4860	.	GRCh37	14	20944716	20944716	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	75	0	ENST00000361505.5:c.826T>C	p.Ser276Pro	p.S276P	ENST00000361505	NM_000270.3	276	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS9552.1	826	MUTECT|MUSE	.	TTGTCTCCATT	NONE	.	.	Superfamily_domains:SSF53167,PIRSF_domain:PIRSF000477,TIGRFAM_domain:TIGR01697,Gene3D:3.40.50.1580,TIGRFAM_domain:TIGR01700,hmmpanther:PTHR11904,hmmpanther:PTHR11904:SF12	.	.	ENSP00000354532	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361505	Transcript	.	.	ENSG00000198805	7892	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.632)	.	deleterious(0.02)	.	PNPH_HUMAN	PNP	HGNC	Q9P1G4_HUMAN,Q8N7G1_HUMAN,G3V393_HUMAN,G3V2H3_HUMAN	.	UPI00001FCF7D	SNV	PNP,missense_variant,p.Ser276Pro,ENST00000361505,;PNP,downstream_gene_variant,,ENST00000553591,;PNP,downstream_gene_variant,,ENST00000554065,;PNP,downstream_gene_variant,,ENST00000553418,;RP11-203M5.8,intron_variant,,ENST00000554678,;PNP,non_coding_transcript_exon_variant,,ENST00000554056,;PNP,non_coding_transcript_exon_variant,,ENST00000556754,;PNP,downstream_gene_variant,,ENST00000557229,;PNP,downstream_gene_variant,,ENST00000556293,;	972	76	67	SUCCESS
AP5M1	55745	.	GRCh37	14	57741433	57741433	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	151	0	ENST00000261558.3:c.546T>C	p.Asp182=	p.D182=	ENST00000261558	NM_018229.3	182	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS9729.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGATAATAC	NONE	.	.	hmmpanther:PTHR16082:SF2,hmmpanther:PTHR16082	.	.	ENSP00000261558	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000261558	Transcript	.	.	ENSG00000053770	20192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP5M1_HUMAN	AP5M1	HGNC	H0YIY0_HUMAN,G3V573_HUMAN	.	UPI00000719DE	SNV	AP5M1,synonymous_variant,p.%3D,ENST00000261558,;AP5M1,synonymous_variant,p.%3D,ENST00000431972,;AP5M1,synonymous_variant,p.%3D,ENST00000556995,;AP5M1,upstream_gene_variant,,ENST00000556723,;AP5M1,downstream_gene_variant,,ENST00000554213,;AP5M1,non_coding_transcript_exon_variant,,ENST00000554931,;AP5M1,intron_variant,,ENST00000555448,;	952	151	118	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72054528	72054528	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	64	0	ENST00000555818.1:c.-62C>T		p.*21*	ENST00000555818	NM_015556.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9807.1	.	MUTECT|MUSE	.	GTGCACATTTA	NONE	.	.	.	.	.	ENSP00000450832	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,5_prime_UTR_variant,,ENST00000358550,;SIPA1L1,5_prime_UTR_variant,,ENST00000381232,;SIPA1L1,5_prime_UTR_variant,,ENST00000555818,;SIPA1L1,5_prime_UTR_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;	287	64	50	SUCCESS
DOC2A	8448	.	GRCh37	16	30018527	30018527	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	42	0	ENST00000350119.4:c.621G>A	p.Lys207=	p.K207=	ENST00000350119	NM_003586.2	207	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS10666.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCTTCTT	NONE	.	.	Superfamily_domains:SSF49562,PIRSF_domain:PIRSF036931,SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF204,hmmpanther:PTHR10024	.	.	ENSP00000340017	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000350119	Transcript	.	.	ENSG00000149927	2985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOC2A_HUMAN	DOC2A	HGNC	H3BU41_HUMAN,H3BSH4_HUMAN,H3BNF7_HUMAN	.	UPI000013DBC8	SNV	DOC2A,missense_variant,p.Ser17Asn,ENST00000564357,;DOC2A,synonymous_variant,p.%3D,ENST00000565273,;DOC2A,synonymous_variant,p.%3D,ENST00000564979,;DOC2A,synonymous_variant,p.%3D,ENST00000350119,;DOC2A,synonymous_variant,p.%3D,ENST00000564944,;DOC2A,downstream_gene_variant,,ENST00000563125,;INO80E,downstream_gene_variant,,ENST00000562291,;INO80E,downstream_gene_variant,,ENST00000563197,;INO80E,downstream_gene_variant,,ENST00000304516,;INO80E,downstream_gene_variant,,ENST00000567705,;DOC2A,downstream_gene_variant,,ENST00000563378,;DOC2A,downstream_gene_variant,,ENST00000567332,;DOC2A,downstream_gene_variant,,ENST00000574405,;DOC2A,downstream_gene_variant,,ENST00000570194,;DOC2A,synonymous_variant,p.%3D,ENST00000566310,;DOC2A,3_prime_UTR_variant,,ENST00000561671,;DOC2A,non_coding_transcript_exon_variant,,ENST00000564233,;DOC2A,downstream_gene_variant,,ENST00000566456,;INO80E,downstream_gene_variant,,ENST00000567987,;INO80E,downstream_gene_variant,,ENST00000569957,;INO80E,downstream_gene_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000567065,;INO80E,downstream_gene_variant,,ENST00000562441,;	812	42	45	SUCCESS
DHODH	1723	.	GRCh37	16	72058091	72058091	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761184880	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	175	0	ENST00000219240.4:c.1181G>C	p.Arg394Pro	p.R394P	ENST00000219240	NM_001361.4	394	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS42192.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGGAGGT	NONE	byFrequency	.	hmmpanther:PTHR11938,Gene3D:3.20.20.70,TIGRFAM_domain:TIGR01036,PIRSF_domain:PIRSF000164,Superfamily_domains:SSF51395	.	.	ENSP00000219240	.	9/9	.	.	.	.	.	.	.	.	rs761184880	9/9	PASS	ENST00000219240	Transcript	.	.	ENSG00000102967	2867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	deleterious(0)	.	PYRD_HUMAN	DHODH	HGNC	J3QRQ3_HUMAN	.	UPI00001FF5FB	SNV	DHODH,missense_variant,p.Arg394Pro,ENST00000219240,;DHODH,missense_variant,p.Gly188Arg,ENST00000574309,;DHODH,missense_variant,p.Arg392Pro,ENST00000572887,;DHODH,downstream_gene_variant,,ENST00000573922,;DHODH,non_coding_transcript_exon_variant,,ENST00000571392,;DHODH,downstream_gene_variant,,ENST00000572003,;DHODH,downstream_gene_variant,,ENST00000573843,;	1202	175	152	SUCCESS
NF1	4763	.	GRCh37	17	29541512	29541512	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	82	174	0	ENST00000358273.4:c.1440del	p.Lys480AsnfsTer18	p.K480Nfs*18	ENST00000358273	NM_001042492.2	479	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS42292.1	1436	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAAAGAAAAAC	NONE	.	.	hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	13/58	.	.	.	.	.	.	.	.	.	13/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	deletion	NF1,frameshift_variant,p.Lys146AsnfsTer18,ENST00000456735,;NF1,frameshift_variant,p.Lys480AsnfsTer18,ENST00000431387,;NF1,frameshift_variant,p.Lys480AsnfsTer18,ENST00000358273,;NF1,frameshift_variant,p.Lys480AsnfsTer18,ENST00000356175,;NF1,frameshift_variant,p.Lys514AsnfsTer18,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	1819	174	271	SUCCESS
TRPV1	7442	.	GRCh37	17	3493227	3493227	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	34	84	0	ENST00000399756.4:c.918G>T	p.Val306=	p.V306=	ENST00000399756	NM_080706.3	306	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45576.1	918	RADIA|MUTECT|MUSE	.	CTCGTCACAAA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,Superfamily_domains:SSF48403,Prints_domain:PR01768	.	.	ENSP00000459962	.	7/17	.	.	.	.	.	.	.	.	COSM978164,COSM978163	7/17	PASS	ENST00000572705	Transcript	.	.	ENSG00000262304	1492	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	.	SHPK	Uniprot_gn	Q8IZY9_HUMAN	.	UPI00005B2E0C	SNV	SHPK,synonymous_variant,p.%3D,ENST00000572705,;TRPV1,synonymous_variant,p.%3D,ENST00000571088,;TRPV1,synonymous_variant,p.%3D,ENST00000425167,;TRPV1,synonymous_variant,p.%3D,ENST00000310522,;TRPV1,synonymous_variant,p.%3D,ENST00000576351,;TRPV1,synonymous_variant,p.%3D,ENST00000399759,;TRPV1,synonymous_variant,p.%3D,ENST00000399756,;TRPV1,synonymous_variant,p.%3D,ENST00000174621,;SHPK,3_prime_UTR_variant,,ENST00000572919,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;	1193	84	55	SUCCESS
TRPV1	7442	.	GRCh37	17	3493239	3493239	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	26	74	0	ENST00000399756.4:c.906C>T	p.Asn302=	p.N302=	ENST00000399756	NM_080706.3	302	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS45576.1	906	RADIA|MUTECT|MUSE	.	TTCGTGTTGTC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,Superfamily_domains:SSF48403,Prints_domain:PR01768	.	.	ENSP00000459962	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000572705	Transcript	.	.	ENSG00000262304	1492	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SHPK	Uniprot_gn	Q8IZY9_HUMAN	.	UPI00005B2E0C	SNV	SHPK,synonymous_variant,p.%3D,ENST00000572705,;TRPV1,synonymous_variant,p.%3D,ENST00000571088,;TRPV1,synonymous_variant,p.%3D,ENST00000425167,;TRPV1,synonymous_variant,p.%3D,ENST00000310522,;TRPV1,synonymous_variant,p.%3D,ENST00000576351,;TRPV1,synonymous_variant,p.%3D,ENST00000399759,;TRPV1,synonymous_variant,p.%3D,ENST00000399756,;TRPV1,synonymous_variant,p.%3D,ENST00000174621,;SHPK,3_prime_UTR_variant,,ENST00000572919,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;	1181	74	43	SUCCESS
STAT3	6774	.	GRCh37	17	40481576	40481576	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	74	134	0	ENST00000264657.5:c.1229A>G	p.His410Arg	p.H410R	ENST00000264657	NM_139276.2	410	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS32656.1	1229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTGTTTG	NONE	.	.	hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417	.	.	ENSP00000264657	.	13/24	.	.	.	.	.	.	.	.	COSM3819625	13/24	PASS	ENST00000264657	Transcript	.	.	ENSG00000168610	11364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	STAT3_HUMAN	STAT3	HGNC	G8JLH9_HUMAN	.	UPI0000031047	SNV	STAT3,missense_variant,p.His410Arg,ENST00000588969,;STAT3,missense_variant,p.His410Arg,ENST00000585517,;STAT3,missense_variant,p.His410Arg,ENST00000404395,;STAT3,missense_variant,p.His410Arg,ENST00000264657,;STAT3,missense_variant,p.His312Arg,ENST00000389272,;STAT3,upstream_gene_variant,,ENST00000471989,;STAT3,upstream_gene_variant,,ENST00000498330,;STAT3,downstream_gene_variant,,ENST00000478276,;	1542	134	141	SUCCESS
C17orf104	0	.	GRCh37	17	42744727	42744728	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	34	60	0	ENST00000409122.2:c.1454dup	p.Asn485LysfsTer2	p.N485Kfs*2	ENST00000409122	NM_001145080.2	483	aca/acAa	0	.	.	.	.	.	A	T/TX	protein_coding	YES	CCDS45703.2	1448-1449	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAACAAAAA	NONE	.	.	.	.	.	ENSP00000386452	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000409122	Transcript	.	.	ENSG00000180336	26670	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CQ104_HUMAN	C17orf104	HGNC	C9JYK8_HUMAN,C9J4A2_HUMAN	.	UPI0001881A86	insertion	C17orf104,frameshift_variant,p.Asn319LysfsTer2,ENST00000409464,;C17orf104,frameshift_variant,p.Asn485LysfsTer2,ENST00000409122,;C17orf104,frameshift_variant,p.Asn485LysfsTer2,ENST00000359945,;C17orf104,downstream_gene_variant,,ENST00000425535,;C17orf104,downstream_gene_variant,,ENST00000432494,;C17orf104,downstream_gene_variant,,ENST00000456912,;C17orf104,upstream_gene_variant,,ENST00000472403,;	1590-1591	60	123	SUCCESS
KIF2B	84643	.	GRCh37	17	51901390	51901390	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	27	88	0	ENST00000268919.4:c.996G>T	p.Val332=	p.V332=	ENST00000268919	NM_032559.4	332	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32685.1	996	RADIA|MUTECT|MUSE	.	CTGGTGGCACA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,synonymous_variant,p.%3D,ENST00000268919,;	1152	88	103	SUCCESS
DYNLL2	140735	.	GRCh37	17	56166589	56166589	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	25	109	0	ENST00000579991.2:c.219C>T	p.Phe73=	p.F73=	ENST00000579991	NM_080677.2	73	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS11601.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCATCTA	NONE	.	.	hmmpanther:PTHR11886,hmmpanther:PTHR11886:SF33,Gene3D:2xqqA00,Pfam_domain:PF01221,Superfamily_domains:SSF54648	.	.	ENSP00000477310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000579991	Transcript	.	.	ENSG00000264364	24596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYL2_HUMAN	DYNLL2	HGNC	.	.	UPI0000021932	SNV	DYNLL2,synonymous_variant,p.%3D,ENST00000579991,;	497	109	119	SUCCESS
RPTOR	57521	.	GRCh37	17	78867532	78867532	+	synonymous_variant	Silent	SNP	C	C	T	rs767092097	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	32	0	ENST00000306801.3:c.2268C>T	p.Pro756=	p.P756=	ENST00000306801	NM_020761.2	756	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11773.1	2268	MUTECT|MUSE	.	TCCCCCGGAAA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12848	.	.	ENSP00000307272	.	20/34	.	.	.	.	.	.	.	.	rs767092097	20/34	PASS	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,synonymous_variant,p.%3D,ENST00000544334,;RPTOR,synonymous_variant,p.%3D,ENST00000306801,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;	2630	32	50	SUCCESS
PRKACA	5566	.	GRCh37	19	14208204	14208204	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	59	0	ENST00000308677.4:c.734T>C	p.Ile245Thr	p.I245T	ENST00000308677	NM_002730.3	245	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS12304.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGATGGGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF55,hmmpanther:PTHR24353,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000309591	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000308677	Transcript	1	.	ENSG00000072062	9380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	deleterious(0)	.	KAPCA_HUMAN	PRKACA	HGNC	K7EMV1_HUMAN	.	UPI0000001C8D	SNV	PRKACA,missense_variant,p.Ile245Thr,ENST00000308677,;PRKACA,missense_variant,p.Ile200Thr,ENST00000587372,;PRKACA,missense_variant,p.Ile237Thr,ENST00000589994,;PRKACA,3_prime_UTR_variant,,ENST00000593092,;PRKACA,intron_variant,,ENST00000590853,;PRKACA,non_coding_transcript_exon_variant,,ENST00000350356,;PRKACA,non_coding_transcript_exon_variant,,ENST00000588209,;PRKACA,non_coding_transcript_exon_variant,,ENST00000536649,;PRKACA,non_coding_transcript_exon_variant,,ENST00000587533,;	931	59	56	SUCCESS
NOTCH3	4854	.	GRCh37	19	15303036	15303036	+	synonymous_variant	Silent	SNP	G	G	A	rs759982965	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	52	0	ENST00000263388.2:c.414C>T	p.Pro138=	p.P138=	ENST00000263388	NM_000435.2	138	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12326.1	414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCGGGCCC	NONE	byFrequency	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2gy5A03,Pfam_domain:PF00008,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	4/33	.	.	.	.	.	.	.	.	rs759982965	4/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,synonymous_variant,p.%3D,ENST00000263388,;NOTCH3,synonymous_variant,p.%3D,ENST00000601011,;	490	52	32	SUCCESS
CATSPERG	57828	.	GRCh37	19	38855544	38855544	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	59	0	ENST00000409235.3:c.2489A>T	p.Asp830Val	p.D830V	ENST00000409235	NM_021185.4	830	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS12514.2	2489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGATAAAA	NONE	.	.	hmmpanther:PTHR14327,Pfam_domain:PF15064	.	.	ENSP00000386962	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000409235	Transcript	.	.	ENSG00000099338	25243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	CTSRG_HUMAN	CATSPERG	HGNC	Q32MQ2_HUMAN	.	UPI000022A813	SNV	CATSPERG,missense_variant,p.Asp830Val,ENST00000409235,;CATSPERG,missense_variant,p.Asp790Val,ENST00000410018,;CATSPERG,3_prime_UTR_variant,,ENST00000215069,;CATSPERG,downstream_gene_variant,,ENST00000489693,;CATSPERG,downstream_gene_variant,,ENST00000409410,;AC005625.1,upstream_gene_variant,,ENST00000590304,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000312265,;CATSPERG,3_prime_UTR_variant,,ENST00000412458,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000492088,;	2604	59	54	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49972226	49972226	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	43	0	ENST00000293350.4:c.2230T>C	p.Tyr744His	p.Y744H	ENST00000293350	NM_153329.3	744	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS12766.1	2230	MUTECT|MUSE	.	TGTGGTATTTC	NONE	.	.	Gene3D:3.40.605.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036490,Superfamily_domains:SSF53720	.	.	ENSP00000293350	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.12)	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,missense_variant,p.Tyr744His,ENST00000293350,;ALDH16A1,missense_variant,p.Tyr581His,ENST00000540132,;ALDH16A1,missense_variant,p.Tyr579His,ENST00000433981,;ALDH16A1,missense_variant,p.Tyr693His,ENST00000455361,;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000594549,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,intron_variant,,ENST00000599536,;ALDH16A1,downstream_gene_variant,,ENST00000600265,;	2393	43	44	SUCCESS
ZNF543	125919	.	GRCh37	19	57840110	57840110	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	48	0	ENST00000321545.4:c.1280A>C	p.Glu427Ala	p.E427A	ENST00000321545	NM_213598.3	427	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS33130.1	1280	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGTGAATGTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24384:SF99,hmmpanther:PTHR24384,PROSITE_profiles:PS50157	.	.	ENSP00000322545	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000321545	Transcript	.	.	ENSG00000178229	25281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.944)	.	deleterious(0.03)	.	ZN543_HUMAN	ZNF543	HGNC	.	.	UPI00001D8197	SNV	ZNF543,missense_variant,p.Glu427Ala,ENST00000321545,;	1625	48	34	SUCCESS
PRDM2	7799	.	GRCh37	1	14108628	14108628	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	125	0	ENST00000235372.7:c.4338G>A	p.Leu1446=	p.L1446=	ENST00000235372	NM_012231.4	1446	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS150.1	4338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGAAAAA	NONE	.	.	PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4	.	.	ENSP00000235372	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,synonymous_variant,p.%3D,ENST00000343137,;PRDM2,synonymous_variant,p.%3D,ENST00000413440,;PRDM2,synonymous_variant,p.%3D,ENST00000311066,;PRDM2,synonymous_variant,p.%3D,ENST00000235372,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000376048,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,intron_variant,,ENST00000491134,;	5194	125	119	SUCCESS
RAB13	5872	.	GRCh37	1	153958796	153958796	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	20	0	ENST00000368575.3:c.-84T>C		p.*28*	ENST00000368575	NM_002870.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1058.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCACGGAG	NONE	.	.	.	.	.	ENSP00000357564	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000368575	Transcript	.	.	ENSG00000143545	9762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB13_HUMAN	RAB13	HGNC	Q504R6_HUMAN	.	UPI0000001264	SNV	RAB13,5_prime_UTR_variant,,ENST00000368575,;RPS27,upstream_gene_variant,,ENST00000368567,;RPS27,upstream_gene_variant,,ENST00000392558,;RAB13,non_coding_transcript_exon_variant,,ENST00000495720,;RPS27,upstream_gene_variant,,ENST00000493224,;RPS27,upstream_gene_variant,,ENST00000477151,;RAB13,upstream_gene_variant,,ENST00000462680,;RAB13,upstream_gene_variant,,ENST00000484297,;	33	20	26	SUCCESS
RUSC1	23623	.	GRCh37	1	155296520	155296520	+	synonymous_variant	Silent	SNP	C	C	T	rs1270149326	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	43	40	1	ENST00000368352.5:c.2011C>T	p.Leu671=	p.L671=	ENST00000368352	NM_001105203.1	671	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41410.1	2011	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCACCTGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15591	.	.	ENSP00000357336	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,synonymous_variant,p.%3D,ENST00000292254,;RUSC1,synonymous_variant,p.%3D,ENST00000368352,;RUSC1,synonymous_variant,p.%3D,ENST00000368347,;RUSC1,synonymous_variant,p.%3D,ENST00000368349,;RUSC1,intron_variant,,ENST00000368354,;RUSC1-AS1,upstream_gene_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000443642,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,non_coding_transcript_exon_variant,,ENST00000497930,;RUSC1,non_coding_transcript_exon_variant,,ENST00000485924,;RUSC1,non_coding_transcript_exon_variant,,ENST00000467820,;RUSC1,non_coding_transcript_exon_variant,,ENST00000490373,;RUSC1,non_coding_transcript_exon_variant,,ENST00000489860,;RUSC1,non_coding_transcript_exon_variant,,ENST00000473331,;RUSC1,non_coding_transcript_exon_variant,,ENST00000492536,;RUSC1,non_coding_transcript_exon_variant,,ENST00000468764,;RUSC1,intron_variant,,ENST00000471876,;RUSC1,intron_variant,,ENST00000479924,;RUSC1,intron_variant,,ENST00000484664,;	2162	41	68	SUCCESS
ATF6	22926	.	GRCh37	1	161823113	161823113	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	63	0	ENST00000367942.3:c.1533G>T	p.Gln511His	p.Q511H	ENST00000367942	NM_007348.3	511	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS1235.1	1533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGGTATG	NONE	.	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF10	.	.	ENSP00000356919	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000367942	Transcript	.	.	ENSG00000118217	791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	deleterious(0.01)	.	ATF6A_HUMAN	ATF6	HGNC	.	.	UPI000013D3E4	SNV	ATF6,missense_variant,p.Gln511His,ENST00000367942,;ATF6,splice_region_variant,,ENST00000476437,;	1600	63	78	SUCCESS
CEP350	9857	.	GRCh37	1	179965731	179965731	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	78	82	0	ENST00000367607.3:c.439G>A	p.Glu147Lys	p.E147K	ENST00000367607	NM_014810.4	147	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1336.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGGAATCA	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	6/38	.	.	.	.	.	.	.	.	COSM3400048,COSM3400049	6/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.611)	.	.	1,1	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Glu147Lys,ENST00000367607,;CEP350,missense_variant,p.Glu121Lys,ENST00000491495,;CEP350,downstream_gene_variant,,ENST00000357434,;RP11-52I18.1,downstream_gene_variant,,ENST00000424289,;	857	82	110	SUCCESS
CEP350	9857	.	GRCh37	1	180003175	180003175	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1395107563	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	152	139	0	ENST00000367607.3:c.3904G>A	p.Ala1302Thr	p.A1302T	ENST00000367607	NM_014810.4	1302	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1336.1	3904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGGCAGCC	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Ala1302Thr,ENST00000367607,;	4322	139	232	SUCCESS
C1orf21	81563	.	GRCh37	1	184446676	184446676	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	44	53	0	ENST00000235307.6:c.33T>A	p.Thr11=	p.T11=	ENST00000235307	NM_030806.3	11	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1362.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACTGTTCA	NONE	.	.	hmmpanther:PTHR14974,hmmpanther:PTHR14974:SF2,Pfam_domain:PF15389	.	.	ENSP00000235307	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000235307	Transcript	.	.	ENSG00000116667	15494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA021_HUMAN	C1orf21	HGNC	.	.	UPI0000071170	SNV	C1orf21,synonymous_variant,p.%3D,ENST00000235307,;	468	53	84	SUCCESS
TRAF3IP3	80342	.	GRCh37	1	209936844	209936844	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	35	127	0	ENST00000367024.1:c.614T>A	p.Leu205Gln	p.L205Q	ENST00000367024		205	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1490.2	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTACAAA	NONE	.	.	hmmpanther:PTHR18889:SF10,hmmpanther:PTHR18889	.	.	ENSP00000355991	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000367024	Transcript	.	.	ENSG00000009790	30766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	T3JAM_HUMAN	TRAF3IP3	HGNC	C9JXB3_HUMAN,C9J0C0_HUMAN	.	UPI00005190E1	SNV	TRAF3IP3,missense_variant,p.Leu205Gln,ENST00000367024,;TRAF3IP3,missense_variant,p.Leu185Gln,ENST00000400959,;TRAF3IP3,missense_variant,p.Leu185Gln,ENST00000010338,;TRAF3IP3,missense_variant,p.Leu205Gln,ENST00000367025,;TRAF3IP3,missense_variant,p.Leu185Gln,ENST00000367026,;TRAF3IP3,downstream_gene_variant,,ENST00000479796,;TRAF3IP3,upstream_gene_variant,,ENST00000367023,;TRAF3IP3,downstream_gene_variant,,ENST00000468672,;TRAF3IP3,missense_variant,p.Leu205Gln,ENST00000478359,;	1130	127	190	SUCCESS
CAPN9	10753	.	GRCh37	1	230898441	230898441	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151280259	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	43	0	ENST00000271971.2:c.445C>T	p.Arg149Cys	p.R149C	ENST00000271971	NM_006615.2	149	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS1586.1	445	RADIA|MUTECT|MUSE|VARSCANS	.	ATGACCGCCTG	NONE	byCluster	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF136,hmmpanther:PTHR10183,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	T:0.0001	ENSP00000271971	.	4/20	.	.	.	.	.	.	.	.	rs151280259	4/20	PASS	ENST00000271971	Transcript	.	.	ENSG00000135773	1486	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.08)	.	CAN9_HUMAN	CAPN9	HGNC	.	.	UPI000006E882	SNV	CAPN9,missense_variant,p.Arg149Cys,ENST00000271971,;CAPN9,missense_variant,p.Arg86Cys,ENST00000366666,;CAPN9,missense_variant,p.Arg149Cys,ENST00000354537,;RP11-99J16__A.2,intron_variant,,ENST00000412344,;	558	43	81	SUCCESS
PHACTR4	65979	.	GRCh37	1	28818225	28818225	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1384154541	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	86	0	ENST00000373839.3:c.1942G>T	p.Val648Leu	p.V648L	ENST00000373839	NM_001048183.1	648	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS41294.1	1972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATGTAGAG	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4	.	.	ENSP00000362942	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000373836	Transcript	.	.	ENSG00000204138	25793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	deleterious(0)	.	PHAR4_HUMAN	PHACTR4	HGNC	.	.	UPI0000374EB3	SNV	PHACTR4,missense_variant,p.Val658Leu,ENST00000373836,;PHACTR4,missense_variant,p.Val648Leu,ENST00000373839,;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;	2186	86	72	SUCCESS
PRDX1	5052	.	GRCh37	1	45977016	45977016	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	89	0	ENST00000262746.1:c.585C>G	p.Phe195Leu	p.F195L	ENST00000262746	NM_181696.2	195	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS522.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGAAATA	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000239,Pfam_domain:PF10417,Gene3D:3.40.30.10,hmmpanther:PTHR10681:SF75,hmmpanther:PTHR10681	.	.	ENSP00000262746	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262746	Transcript	.	.	ENSG00000117450	9352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	PRDX1_HUMAN	PRDX1	HGNC	.	.	UPI000002FC88	SNV	PRDX1,missense_variant,p.Phe195Leu,ENST00000319248,;PRDX1,missense_variant,p.Phe195Leu,ENST00000262746,;PRDX1,missense_variant,p.Phe93Leu,ENST00000372079,;MMACHC,downstream_gene_variant,,ENST00000401061,;PRDX1,downstream_gene_variant,,ENST00000447184,;PRDX1,downstream_gene_variant,,ENST00000424390,;PRDX1,downstream_gene_variant,,ENST00000483583,;MMACHC,downstream_gene_variant,,ENST00000477188,;	925	89	73	SUCCESS
DNASE2B	58511	.	GRCh37	1	84864291	84864291	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	37	85	0	ENST00000370665.3:c.44C>A	p.Ala15Asp	p.A15D	ENST00000370665	NM_021233.2	15	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS44167.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCTTTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,PROSITE_profiles:PS51257,hmmpanther:PTHR10858:SF2,hmmpanther:PTHR10858	.	.	ENSP00000359699	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000370665	Transcript	.	.	ENSG00000137976	28875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.19)	.	DNS2B_HUMAN	DNASE2B	HGNC	Q66K39_HUMAN	.	UPI000006DA43	SNV	DNASE2B,missense_variant,p.Ala15Asp,ENST00000370665,;UOX,upstream_gene_variant,,ENST00000471089,;	77	85	84	SUCCESS
GBP2	2634	.	GRCh37	1	89575922	89575922	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	50	143	0	ENST00000370466.3:c.1390G>A	p.Glu464Lys	p.E464K	ENST00000370466	NM_004120.4	464	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS719.1	1390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCCAAAT	NONE	.	.	hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF39,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397	.	.	ENSP00000359497	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000370466	Transcript	.	.	ENSG00000162645	4183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.56)	.	GBP2_HUMAN	GBP2	HGNC	Q8TCE5_HUMAN	.	UPI000013E19F	SNV	GBP2,missense_variant,p.Glu464Lys,ENST00000370466,;GBP2,non_coding_transcript_exon_variant,,ENST00000463660,;GBP2,non_coding_transcript_exon_variant,,ENST00000493802,;GBP2,missense_variant,p.Glu464Lys,ENST00000464839,;	1659	144	109	SUCCESS
HFM1	164045	.	GRCh37	1	91784735	91784735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	115	0	ENST00000370425.3:c.2712G>T	p.Lys904Asn	p.K904N	ENST00000370425	NM_001017975.3	904	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS30769.2	2712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCTTTTC	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Gene3D:2q0zX01,Pfam_domain:PF02889,SMART_domains:SM00973,Superfamily_domains:SSF158702	.	.	ENSP00000359454	.	25/39	.	.	.	.	.	.	.	.	.	25/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.45)	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,missense_variant,p.Lys583Asn,ENST00000370424,;HFM1,missense_variant,p.Lys904Asn,ENST00000370425,;HFM1,missense_variant,p.Lys136Asn,ENST00000294696,;HFM1,intron_variant,,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;HFM1,intron_variant,,ENST00000497520,;	2811	115	103	SUCCESS
IL17RA	23765	.	GRCh37	22	17577966	17577966	+	synonymous_variant	Silent	SNP	G	G	A	rs767860569	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	67	204	0	ENST00000319363.6:c.153G>A	p.Thr51=	p.T51=	ENST00000319363	NM_014339.6	51	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13739.1	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGGTCAA	NONE	.	.	hmmpanther:PTHR15583:SF1,hmmpanther:PTHR15583	.	.	ENSP00000320936	.	2/13	.	.	.	.	.	.	.	.	rs767860569,COSM444662	2/13	PASS	ENST00000319363	Transcript	.	.	ENSG00000177663	5985	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	I17RA_HUMAN	IL17RA	HGNC	F1JZ08_HUMAN	.	UPI000005031F	SNV	IL17RA,synonymous_variant,p.%3D,ENST00000319363,;IL17RA,intron_variant,,ENST00000477874,;IL17RA,non_coding_transcript_exon_variant,,ENST00000459971,;AC006946.12,upstream_gene_variant,,ENST00000429106,;	286	204	185	SUCCESS
TMEM177	80775	.	GRCh37	2	120438937	120438937	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs547985745	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	56	0	ENST00000272521.6:c.508G>T	p.Ala170Ser	p.A170S	ENST00000272521	NM_030577.2	170	Gcc/Tcc	0	.	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS2128.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGCCCTG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR21824,hmmpanther:PTHR21824:SF1	A:0.002	.	ENSP00000402661	A:0	2/2	.	.	.	.	.	.	.	.	rs547985745	2/2	PASS	ENST00000424086	Transcript	.	A:0.0004	ENSG00000144120	28143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	A:0	tolerated(0.17)	.	TM177_HUMAN	TMEM177	HGNC	C9J6F8_HUMAN	.	UPI000013D95F	SNV	TMEM177,missense_variant,p.Ala170Ser,ENST00000272521,;TMEM177,missense_variant,p.Ala170Ser,ENST00000401466,;TMEM177,missense_variant,p.Ala170Ser,ENST00000424086,;TMEM177,intron_variant,,ENST00000409951,;TMEM177,downstream_gene_variant,,ENST00000445518,;TMEM177,intron_variant,,ENST00000496203,;	981	56	51	SUCCESS
PLA2R1	22925	.	GRCh37	2	160901606	160901606	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	123	0	ENST00000283243.7:c.172G>C	p.Val58Leu	p.V58L	ENST00000283243	NM_001195641.1	58	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS33309.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACCGATT	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000283243	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.3)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Val58Leu,ENST00000283243,;PLA2R1,missense_variant,p.Val58Leu,ENST00000392771,;	379	123	117	SUCCESS
MAP2	4133	.	GRCh37	2	210517999	210517999	+	synonymous_variant	Silent	SNP	C	C	A	rs149857613	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	140	0	ENST00000360351.4:c.105C>A	p.Gly35=	p.G35=	ENST00000360351	NM_002374.3	35	ggC/ggA	0	T:0.0002	T:0	.	T:0	.	A	G	protein_coding	YES	CCDS2384.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCGGAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501	T:0.001	T:0.0001	ENSP00000353508	T:0	4/15	.	.	.	.	.	.	.	.	rs149857613	4/15	PASS	ENST00000360351	Transcript	.	T:0.0002	ENSG00000078018	6839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,synonymous_variant,p.%3D,ENST00000447185,;MAP2,synonymous_variant,p.%3D,ENST00000392193,;MAP2,synonymous_variant,p.%3D,ENST00000361559,;MAP2,synonymous_variant,p.%3D,ENST00000360351,;MAP2,synonymous_variant,p.%3D,ENST00000199940,;MAP2,synonymous_variant,p.%3D,ENST00000392194,;MAP2,synonymous_variant,p.%3D,ENST00000445941,;MAP2,upstream_gene_variant,,ENST00000452717,;	611	140	114	SUCCESS
FABP1	2168	.	GRCh37	2	88424070	88424072	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	CAC	CAC	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	70	0	ENST00000295834.3:c.274_276del	p.Val92del	p.V92del	ENST00000295834	NM_001443.2	92	GTG/-	0	.	.	.	.	.	-	V/-	protein_coding	YES	CCDS2001.1	274-276	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTTGTCACCAGTT	NONE	.	.	Superfamily_domains:SSF50814,Pfam_domain:PF14651,Gene3D:2.40.128.20,hmmpanther:PTHR11955:SF73,hmmpanther:PTHR11955	.	.	ENSP00000295834	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000295834	Transcript	.	.	ENSG00000163586	3555	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FABPL_HUMAN	FABP1	HGNC	Q6FGL7_HUMAN	.	UPI00000527AB	deletion	FABP1,inframe_deletion,p.Val92del,ENST00000295834,;FABP1,inframe_deletion,p.Val92del,ENST00000393750,;FABP1,non_coding_transcript_exon_variant,,ENST00000495375,;FABP1,downstream_gene_variant,,ENST00000472846,;	373-375	70	34	SUCCESS
GPAT2	150763	.	GRCh37	2	96696261	96696261	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	29	0	ENST00000359548.4:c.378G>A	p.Gly126=	p.G126=	ENST00000359548	NM_207328.2	126	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42714.1	378	RADIA|VARSCANS	.	ACCCTCCCTGA	NONE	.	.	hmmpanther:PTHR12563:SF7,hmmpanther:PTHR12563	.	.	ENSP00000389395	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000434632	Transcript	.	.	ENSG00000186281	27168	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPAT2_HUMAN	GPAT2	HGNC	C9JYV5_HUMAN	.	UPI0000E5E123	SNV	GPAT2,synonymous_variant,p.%3D,ENST00000439254,;GPAT2,synonymous_variant,p.%3D,ENST00000377137,;GPAT2,synonymous_variant,p.%3D,ENST00000359548,;GPAT2,synonymous_variant,p.%3D,ENST00000453542,;GPAT2,synonymous_variant,p.%3D,ENST00000434632,;GPAT2,downstream_gene_variant,,ENST00000488515,;GPAT2,downstream_gene_variant,,ENST00000468438,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;	838	29	32	SUCCESS
POLQ	10721	.	GRCh37	3	121200622	121200622	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773624174	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	38	127	1	ENST00000264233.5:c.6008C>T	p.Pro2003Leu	p.P2003L	ENST00000264233	NM_199420.3	2003	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33833.1	6008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGGCTCC	NONE	byFrequency	.	Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000264233	.	19/30	.	.	.	.	.	.	.	.	rs773624174,COSM1418129	19/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.866)	.	tolerated(0.11)	0,1	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Pro2003Leu,ENST00000264233,;POLQ,upstream_gene_variant,,ENST00000474243,;	6137	128	105	SUCCESS
HES1	3280	.	GRCh37	3	193855598	193855598	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	45	0	ENST00000232424.3:c.419T>G	p.Leu140Arg	p.L140R	ENST00000232424	NM_005524.3	140	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS3305.1	419	MUTECT|MUSE	.	GCTGCTCGGCC	NONE	.	.	PROSITE_profiles:PS51054,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF19,Pfam_domain:PF07527,SMART_domains:SM00511,Superfamily_domains:0053813	.	.	ENSP00000232424	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000232424	Transcript	.	.	ENSG00000114315	5192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.643)	.	deleterious(0)	.	HES1_HUMAN	HES1	HGNC	Q8IXV0_HUMAN	.	UPI0000037B01	SNV	HES1,missense_variant,p.Leu140Arg,ENST00000232424,;HES1,downstream_gene_variant,,ENST00000476918,;	655	45	23	SUCCESS
MUC20	200958	.	GRCh37	3	195452957	195452957	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	206	59	317	0	ENST00000447234.2:c.1483A>T	p.Thr495Ser	p.T495S	ENST00000447234	NM_001282506.1	495	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS63877.1	1483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCACGGTT	BUFFER|p.V496I|c.1486G>A|3	.	.	.	.	.	ENSP00000414350	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.05)	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	SNV	MUC20,missense_variant,p.Thr460Ser,ENST00000445522,;MUC20,missense_variant,p.Thr495Ser,ENST00000447234,;MUC20,missense_variant,p.Thr324Ser,ENST00000320736,;MUC20,missense_variant,p.Thr495Ser,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000594976,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,upstream_gene_variant,,ENST00000498018,;	1609	317	265	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28931589	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	78	187	1	ENST00000349496.5:c.101G>A	p.Gly34Glu	p.G34E	ENST00000349496	NM_001904.3	34	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2694.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	CTCTGGAATCC	SITE|p.G34E|c.101G>A|87,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.G34R|c.100G>C|19,CODON|p.G34R|c.100G>A|88,CODON|p.G34V|c.101G>T|90,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs28931589,COSM5671,COSM5670	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	19635198	probably_damaging(0.993)	.	deleterious(0.03)	0,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Gly34Glu,ENST00000349496,;CTNNB1,missense_variant,p.Gly27Glu,ENST00000426215,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000396185,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000405570,;CTNNB1,missense_variant,p.Gly27Glu,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000396183,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	381	188	208	SUCCESS
SPATA5	166378	.	GRCh37	4	123900511	123900511	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	132	0	ENST00000274008.4:c.1839C>T	p.Ala613=	p.A613=	ENST00000274008	NM_145207.2	613	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3730.1	1839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCATGAG	NONE	.	.	hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000274008	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000274008	Transcript	.	.	ENSG00000145375	18119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAT5_HUMAN	SPATA5	HGNC	.	.	UPI000013D9E6	SNV	SPATA5,synonymous_variant,p.%3D,ENST00000274008,;SPATA5,non_coding_transcript_exon_variant,,ENST00000422835,;	1908	132	106	SUCCESS
SLC34A2	10568	.	GRCh37	4	25664369	25664369	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374467761	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	44	155	0	ENST00000382051.3:c.155C>T	p.Pro52Leu	p.P52L	ENST00000382051	NM_006424.2	52	cCg/cTg	0	G:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS3435.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCGTCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23	.	G:0.0001	ENSP00000371483	.	3/13	.	.	.	.	.	.	.	.	rs374467761	3/13	PASS	ENST00000382051	Transcript	1	.	ENSG00000157765	11020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.06)	.	NPT2B_HUMAN	SLC34A2	HGNC	D6RBC0_HUMAN	.	UPI000013DF24	SNV	SLC34A2,missense_variant,p.Pro52Leu,ENST00000507530,;SLC34A2,missense_variant,p.Pro51Leu,ENST00000503434,;SLC34A2,missense_variant,p.Pro51Leu,ENST00000513204,;SLC34A2,missense_variant,p.Pro52Leu,ENST00000382051,;SLC34A2,missense_variant,p.Pro51Leu,ENST00000504570,;SLC34A2,upstream_gene_variant,,ENST00000510033,;	205	155	134	SUCCESS
KDR	3791	.	GRCh37	4	55976858	55976858	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	69	217	0	ENST00000263923.4:c.1054G>T	p.Ala352Ser	p.A352S	ENST00000263923	NM_002253.2	352	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3497.1	1054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGCAGGGA	CODON|p.A352V|c.1055C>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000263923	.	8/30	.	.	.	.	.	.	.	.	.	8/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	deleterious(0)	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,missense_variant,p.Ala352Ser,ENST00000263923,;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	1350	217	172	SUCCESS
TRMT44	152992	.	GRCh37	4	8465812	8465812	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	102	0	ENST00000389737.4:c.1304C>T	p.Ala435Val	p.A435V	ENST00000389737	NM_152544.2	435	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3402.2	1304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCAGCCA	NONE	.	.	hmmpanther:PTHR21210:SF0,hmmpanther:PTHR21210,Superfamily_domains:SSF53335	.	.	ENSP00000374387	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000389737	Transcript	.	.	ENSG00000155275	26653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	TRM44_HUMAN	TRMT44	HGNC	.	.	UPI0000DE1FA2	SNV	TRMT44,missense_variant,p.Ala194Val,ENST00000513449,;TRMT44,missense_variant,p.Ala435Val,ENST00000389737,;TRMT44,non_coding_transcript_exon_variant,,ENST00000532477,;	1304	102	91	SUCCESS
DMXL1	1657	.	GRCh37	5	118484603	118484603	+	synonymous_variant	Silent	SNP	A	A	G	rs1029381930	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	65	214	0	ENST00000311085.8:c.3081A>G	p.Pro1027=	p.P1027=	ENST00000311085	NM_005509.4	1027	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4125.1	3081	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCATTACT	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,synonymous_variant,p.%3D,ENST00000539542,;DMXL1,synonymous_variant,p.%3D,ENST00000311085,;DMXL1,downstream_gene_variant,,ENST00000512281,;	3161	214	247	SUCCESS
ANKHD1	54882	.	GRCh37	5	139852005	139852005	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	40	0	ENST00000360839.2:c.1782+7644C>T		p.*594*	ENST00000360839	NM_017747.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4224.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCCTCTT	NONE	.	.	.	.	.	ENSP00000297183	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODIFIER	10/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,3_prime_UTR_variant,,ENST00000394723,;ANKHD1,3_prime_UTR_variant,,ENST00000394722,;ANKHD1,intron_variant,,ENST00000297183,;ANKHD1,intron_variant,,ENST00000246149,;ANKHD1,intron_variant,,ENST00000360839,;ANKHD1,intron_variant,,ENST00000421134,;ANKHD1-EIF4EBP3,intron_variant,,ENST00000532219,;	.	40	52	SUCCESS
PCDHGA2	56113	.	GRCh37	5	140720406	140720406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370683887	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	20	0	ENST00000394576.2:c.1868C>T	p.Thr623Met	p.T623M	ENST00000394576	NM_018915.2	623	aCg/aTg	0	T:0.0002	.	.	.	.	T	T/M	protein_coding	YES	CCDS47289.1	1868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACACGGGCG	BUFFER|p.E625K|c.1873G>A|3,BUFFER|p.E625K|c.1873G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	T:0.0001	ENSP00000378077	.	1/4	.	.	.	.	.	.	.	.	rs370683887,COSM205212	1/4	PASS	ENST00000394576	Transcript	.	.	ENSG00000081853	8700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	0,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000072E67	SNV	PCDHGA2,missense_variant,p.Thr623Met,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA3,upstream_gene_variant,,ENST00000253812,;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	1868	20	49	SUCCESS
NIPBL	25836	.	GRCh37	5	36976173	36976173	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs768113851	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	118	155	0	ENST00000282516.8:c.1164T>A	p.Asn388Lys	p.N388K	ENST00000282516	NM_133433.3	388	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS3920.1	1164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATGATAT	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	9/47	.	.	.	.	.	.	.	.	rs768113851	9/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.27)	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,missense_variant,p.Asn388Lys,ENST00000448238,;NIPBL,missense_variant,p.Asn388Lys,ENST00000282516,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000505998,;	1663	155	221	SUCCESS
CWC27	10283	.	GRCh37	5	64314004	64314005	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TT	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	221	129	185	0	ENST00000381070.3:c.1277_1278dup	p.Glu427LeufsTer8	p.E427Lfs*8	ENST00000381070	NM_005869.2	425	-/TT	0	.	.	.	.	.	TT	-/X	protein_coding	YES	CCDS3982.2	1275-1276	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCAGTTTGA	NONE	.	.	.	.	.	ENSP00000370460	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	insertion	CWC27,frameshift_variant,p.Glu427LeufsTer8,ENST00000381070,;RP11-307L14.2,upstream_gene_variant,,ENST00000606057,;RP11-307L14.1,upstream_gene_variant,,ENST00000607786,;CWC27,non_coding_transcript_exon_variant,,ENST00000545000,;	1492-1493	185	350	SUCCESS
OPRM1	4988	.	GRCh37	6	154412549	154412549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199984546	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	95	0	ENST00000330432.7:c.1106G>A	p.Arg369His	p.R369H	ENST00000330432	NM_000914.3	369	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47503.1	1385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCGTCAGA	CODON|p.R369C|c.1105C>T|7,CODON|p.R369C|c.1105C>T|7,CODON|p.R462C|c.1384C>T|7	byFrequency|byCluster	.	hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000394624	.	5/6	.	.	.	.	.	.	.	.	rs199984546,COSM483591,COSM483592	5/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.399)	.	deleterious(0)	0,1,1	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Arg369His,ENST00000337049,;OPRM1,missense_variant,p.Arg369His,ENST00000428397,;OPRM1,missense_variant,p.Arg369His,ENST00000360422,;OPRM1,missense_variant,p.Arg369His,ENST00000452687,;OPRM1,missense_variant,p.Arg369His,ENST00000330432,;OPRM1,missense_variant,p.Arg369His,ENST00000435918,;OPRM1,missense_variant,p.Arg288His,ENST00000518759,;OPRM1,missense_variant,p.Arg369His,ENST00000414028,;OPRM1,missense_variant,p.Arg369His,ENST00000419506,;OPRM1,missense_variant,p.Arg462His,ENST00000434900,;OPRM1,missense_variant,p.Arg369His,ENST00000524163,;OPRM1,missense_variant,p.Arg269His,ENST00000522236,;OPRM1,missense_variant,p.Arg269His,ENST00000520708,;OPRM1,missense_variant,p.Arg269His,ENST00000522555,;OPRM1,missense_variant,p.Arg369His,ENST00000229768,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Arg369His,ENST00000522739,;OPRM1,missense_variant,p.Arg369His,ENST00000519083,;OPRM1,3_prime_UTR_variant,,ENST00000524150,;	1903	95	71	SUCCESS
HSPA1A	3303	.	GRCh37	6	31783358	31783358	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	27	0	ENST00000375651.5:c.-176C>G		p.*59*	ENST00000375651	NM_005345.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34413.1	.	RADIA|MUTECT|VARSCANS	.	ACTACCTTTTT	NONE	.	516	.	.	.	ENSP00000364805	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,splice_region_variant,,ENST00000417199,;HSPA1A,5_prime_UTR_variant,,ENST00000375651,;HSPA1A,5_prime_UTR_variant,,ENST00000458062,;HSPA1A,5_prime_UTR_variant,,ENST00000608703,;HSPA1L,upstream_gene_variant,,ENST00000375654,;	.	27	24	SUCCESS
DNAH8	1769	.	GRCh37	6	38747842	38747842	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs376576474	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	77	0	ENST00000359357.3:c.1488+1G>T		p.X496_splice	ENST00000359357		496		0	A:0	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGCAAGT	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000352312	.	.	.	.	.	.	.	.	.	.	rs376576474	.	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	HIGH	13/90	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,splice_donor_variant,,ENST00000359357,;DNAH8,splice_donor_variant,,ENST00000327475,;DNAH8,splice_donor_variant,,ENST00000441566,;DNAH8,splice_donor_variant,,ENST00000449981,;	.	77	77	SUCCESS
CALD1	800	.	GRCh37	7	134618234	134618234	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	131	0	ENST00000361675.2:c.714T>C	p.Pro238=	p.P238=	ENST00000361675		238	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5835.1	714	MUTECT|MUSE	.	GAGCCTAAACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18949:SF0,hmmpanther:PTHR18949,Pfam_domain:PF02029	.	.	ENSP00000354826	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000361675	Transcript	.	.	ENSG00000122786	1441	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CALD1_HUMAN	CALD1	HGNC	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN	.	UPI0000140A64	SNV	CALD1,synonymous_variant,p.%3D,ENST00000361675,;CALD1,intron_variant,,ENST00000361901,;CALD1,intron_variant,,ENST00000495522,;CALD1,intron_variant,,ENST00000436461,;CALD1,intron_variant,,ENST00000393118,;CALD1,intron_variant,,ENST00000422748,;CALD1,intron_variant,,ENST00000543443,;CALD1,intron_variant,,ENST00000361388,;CALD1,intron_variant,,ENST00000417172,;CALD1,intron_variant,,ENST00000424922,;CALD1,downstream_gene_variant,,ENST00000454108,;CALD1,downstream_gene_variant,,ENST00000445569,;CALD1,downstream_gene_variant,,ENST00000435928,;CALD1,downstream_gene_variant,,ENST00000496024,;CALD1,intron_variant,,ENST00000482470,;CALD1,intron_variant,,ENST00000443197,;CALD1,intron_variant,,ENST00000430085,;	943	131	91	SUCCESS
MPP6	0	.	GRCh37	7	24690139	24690139	+	synonymous_variant	Silent	SNP	A	A	G	rs548751295	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	65	0	ENST00000222644.5:c.459A>G	p.Val153=	p.V153=	ENST00000222644		153	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS5388.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTAATTGC	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122,PROSITE_profiles:PS50106	.	.	ENSP00000222644	.	5/12	.	.	.	.	.	.	.	.	rs548751295	5/12	PASS	ENST00000222644	Transcript	.	.	ENSG00000105926	18167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,synonymous_variant,p.%3D,ENST00000430180,;MPP6,synonymous_variant,p.%3D,ENST00000396475,;MPP6,synonymous_variant,p.%3D,ENST00000409761,;MPP6,synonymous_variant,p.%3D,ENST00000222644,;MPP6,synonymous_variant,p.%3D,ENST00000432190,;	709	65	70	SUCCESS
SAMD9	54809	.	GRCh37	7	92733944	92733944	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	133	0	ENST00000379958.2:c.1467C>T	p.Pro489=	p.P489=	ENST00000379958	NM_017654.3	489	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34680.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGGGTTG	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,synonymous_variant,p.%3D,ENST00000446617,;SAMD9,synonymous_variant,p.%3D,ENST00000379958,;	1737	133	110	SUCCESS
MTMR9	66036	.	GRCh37	8	11177448	11177448	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	25	0	ENST00000221086.3:c.1486+101G>C		p.*496*	ENST00000221086	NM_015458.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5979.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGACGTGGCC	NONE	.	.	.	.	.	ENSP00000221086	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000221086	Transcript	.	.	ENSG00000104643	14596	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMR9_HUMAN	MTMR9	HGNC	Q9Y4N6_HUMAN,B7Z291_HUMAN	.	UPI0000073CA7	SNV	MTMR9,intron_variant,,ENST00000526292,;MTMR9,intron_variant,,ENST00000221086,;AF131216.6,non_coding_transcript_exon_variant,,ENST00000498997,;MTMR9,intron_variant,,ENST00000530200,;	.	25	13	SUCCESS
WISP1	0	.	GRCh37	8	134232984	134232984	+	synonymous_variant	Silent	SNP	G	G	A	rs775016662	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	21	0	ENST00000250160.6:c.510G>A	p.Pro170=	p.P170=	ENST00000250160	NM_003882.3	170	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6371.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGCGGCG	NONE	byFrequency	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF4,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,PIRSF_domain:PIRSF036495,Superfamily_domains:SSF57603	.	.	ENSP00000250160	.	3/5	.	.	.	.	.	.	.	.	rs775016662	3/5	PASS	ENST00000250160	Transcript	.	.	ENSG00000104415	12769	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WISP1_HUMAN	WISP1	HGNC	.	.	UPI00000359FE	SNV	WISP1,synonymous_variant,p.%3D,ENST00000250160,;WISP1,intron_variant,,ENST00000377863,;WISP1,intron_variant,,ENST00000517423,;WISP1,intron_variant,,ENST00000519433,;WISP1,intron_variant,,ENST00000220856,;WISP1,intron_variant,,ENST00000377862,;	616	21	93	SUCCESS
TBC1D13	54662	.	GRCh37	9	131566320	131566320	+	synonymous_variant	Silent	SNP	G	G	T	rs373890081	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	50	0	ENST00000372648.5:c.840G>T	p.Ser280=	p.S280=	ENST00000372648	NM_018201.3	280	tcG/tcT	0	A:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS6911.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGCAGTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF252,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	A:0.0001	ENSP00000361731	.	9/12	.	.	.	.	.	.	.	.	rs373890081	9/12	PASS	ENST00000372648	Transcript	.	.	ENSG00000107021	25571	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC13_HUMAN	TBC1D13	HGNC	Q59F95_HUMAN,B4DHM6_HUMAN,B3KW04_HUMAN	.	UPI000013E816	SNV	TBC1D13,synonymous_variant,p.%3D,ENST00000539497,;TBC1D13,synonymous_variant,p.%3D,ENST00000372648,;TBC1D13,intron_variant,,ENST00000223865,;TBC1D13,downstream_gene_variant,,ENST00000466056,;	990	50	58	SUCCESS
TRMT10B	158234	.	GRCh37	9	37769962	37769962	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	76	0	ENST00000297994.3:c.598T>C	p.Phe200Leu	p.F200L	ENST00000297994	NM_144964.2	200	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS43804.1	598	MUTECT|MUSE	.	ACTGCTTTAGT	NONE	.	.	Pfam_domain:PF01746,hmmpanther:PTHR13563:SF10,hmmpanther:PTHR13563,PROSITE_profiles:PS51675	.	.	ENSP00000297994	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000297994	Transcript	.	.	ENSG00000165275	26454	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.95)	.	TM10B_HUMAN	TRMT10B	HGNC	.	.	UPI000013E47D	SNV	TRMT10B,missense_variant,p.Phe122Leu,ENST00000377753,;TRMT10B,missense_variant,p.Phe105Leu,ENST00000377754,;TRMT10B,missense_variant,p.Phe149Leu,ENST00000537911,;TRMT10B,missense_variant,p.Phe200Leu,ENST00000297994,;TRMT10B,3_prime_UTR_variant,,ENST00000488673,;TRMT10B,3_prime_UTR_variant,,ENST00000537016,;TRMT10B,non_coding_transcript_exon_variant,,ENST00000509577,;EXOSC3,intron_variant,,ENST00000465229,;RP11-613M10.9,intron_variant,,ENST00000540557,;TRMT10B,downstream_gene_variant,,ENST00000538370,;	663	77	64	SUCCESS
PRUNE2	158471	.	GRCh37	9	79323927	79323927	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs754280317	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	81	223	1	ENST00000376718.3:c.3263A>C	p.Tyr1088Ser	p.Y1088S	ENST00000376718	NM_015225.2	1088	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS47982.1	3263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTACAGT	NONE	byFrequency	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	rs754280317	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.05)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Tyr410Ser,ENST00000426088,;PRUNE2,missense_variant,p.Tyr1088Ser,ENST00000376718,;PRUNE2,missense_variant,p.Tyr729Ser,ENST00000428286,;	3387	224	208	SUCCESS
ELF4	2000	.	GRCh37	X	129200820	129200820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	43	72	0	ENST00000308167.5:c.1868C>A	p.Ser623Tyr	p.S623Y	ENST00000308167	NM_001421.3	623	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS14617.1	1868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGACCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF170	.	.	ENSP00000311280	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000308167	Transcript	.	.	ENSG00000102034	3319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious_low_confidence(0)	.	ELF4_HUMAN	ELF4	HGNC	B1AL80_HUMAN	.	UPI0000072B32	SNV	ELF4,missense_variant,p.Ser623Tyr,ENST00000335997,;ELF4,missense_variant,p.Ser623Tyr,ENST00000308167,;	2248	72	61	SUCCESS
SRPX	8406	.	GRCh37	X	38020249	38020249	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	28	42	0	ENST00000378533.3:c.712C>T	p.Gln238Ter	p.Q238*	ENST00000378533	NM_006307.4	238	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14245.1	712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTGGATCT	NONE	.	.	Pfam_domain:PF02494,hmmpanther:PTHR19325:SF27,hmmpanther:PTHR19325,PROSITE_profiles:PS50825	.	.	ENSP00000367794	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000378533	Transcript	.	.	ENSG00000101955	11309	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRPX_HUMAN	SRPX	HGNC	.	.	UPI0000135F5C	SNV	SRPX,stop_gained,p.Gln238Ter,ENST00000378533,;SRPX,stop_gained,p.Gln179Ter,ENST00000432886,;SRPX,stop_gained,p.Gln218Ter,ENST00000544439,;SRPX,stop_gained,p.Gln225Ter,ENST00000343800,;SRPX,stop_gained,p.Gln238Ter,ENST00000538295,;TM4SF2,intron_variant,,ENST00000465127,;SRPX,upstream_gene_variant,,ENST00000479015,;	819	42	41	SUCCESS
HPS1	3257	.	GRCh37	10	100183612	100183612	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	55	0	ENST00000325103.6:c.1430A>G	p.Gln477Arg	p.Q477R	ENST00000325103	NM_000195.3	477	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7475.1	1430	RADIA|VARSCANS	.	AGAGCTGCCGC	NONE	.	.	hmmpanther:PTHR12761	.	.	ENSP00000326649	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000325103	Transcript	1	.	ENSG00000107521	5163	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.562)	.	tolerated(0.05)	.	HPS1_HUMAN	HPS1	HGNC	.	.	UPI000006D5B0	SNV	HPS1,missense_variant,p.Gln477Arg,ENST00000361490,;HPS1,missense_variant,p.Gln272Arg,ENST00000359632,;HPS1,missense_variant,p.Gln477Arg,ENST00000325103,;HPS1,non_coding_transcript_exon_variant,,ENST00000470095,;HPS1,non_coding_transcript_exon_variant,,ENST00000478087,;HPS1,non_coding_transcript_exon_variant,,ENST00000467246,;HPS1,upstream_gene_variant,,ENST00000462743,;HPS1,downstream_gene_variant,,ENST00000497527,;HPS1,downstream_gene_variant,,ENST00000498219,;	1664	55	37	SUCCESS
GPAM	57678	.	GRCh37	10	113913361	113913364	+	frameshift_variant	Frame_Shift_Del	DEL	GAGG	GAGG	-	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	GAGG	GAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	66	0	ENST00000348367.4:c.2431_2434del	p.Pro811AsnfsTer8	p.P811Nfs*8	ENST00000348367		811	CCTCaa/aa	0	.	.	.	.	.	-	PQ/X	protein_coding	YES	CCDS7570.1	2431-2434	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCATTGAGGTAGAA	NONE	.	.	PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500064,hmmpanther:PTHR12563:SF2,hmmpanther:PTHR12563	.	.	ENSP00000265276	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000348367	Transcript	.	.	ENSG00000119927	24865	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	deletion	GPAM,frameshift_variant,p.Pro811AsnfsTer8,ENST00000348367,;GPAM,frameshift_variant,p.Pro811AsnfsTer8,ENST00000423155,;GPAM,downstream_gene_variant,,ENST00000369425,;	2629-2632	66	55	SUCCESS
H2AFY2	0	.	GRCh37	10	71835423	71835423	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	108	0	ENST00000373255.4:c.10del	p.Arg4GlyfsTer25	p.R4Gfs*25	ENST00000373255	NM_018649.2	3	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS7296.1	9	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCGGGCCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF37,Gene3D:1.10.20.10,SMART_domains:SM00414,PIRSF_domain:PIRSF037942	.	.	ENSP00000362352	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000373255	Transcript	.	.	ENSG00000099284	14453	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H2AW_HUMAN	H2AFY2	HGNC	.	.	UPI000003F001	deletion	H2AFY2,frameshift_variant,p.Arg4GlyfsTer25,ENST00000373255,;H2AFY2,frameshift_variant,p.Arg4GlyfsTer25,ENST00000455786,;	273	108	92	SUCCESS
PALD1	27143	.	GRCh37	10	72301249	72301249	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1022510891	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	45	0	ENST00000263563.6:c.2080G>A	p.Val694Met	p.V694M	ENST00000263563	NM_014431.2	694	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS31215.1	2080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGTGAGT	NONE	.	.	hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339	.	.	ENSP00000263563	.	17/20	.	.	.	.	.	.	.	.	COSM3867708	17/20	PASS	ENST00000263563	Transcript	.	.	ENSG00000107719	23530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.694)	.	deleterious(0)	1	PALD_HUMAN	PALD1	HGNC	.	.	UPI00001C1EDC	SNV	PALD1,missense_variant,p.Val694Met,ENST00000263563,;	2348	45	61	SUCCESS
CUX2	23316	.	GRCh37	12	111746258	111746258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	102	0	ENST00000261726.6:c.1186C>A	p.Leu396Ile	p.L396I	ENST00000261726	NM_015267.3	396	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS41837.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCTTATT	NONE	.	.	hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	deleterious(0)	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	SNV	CUX2,missense_variant,p.Leu396Ile,ENST00000261726,;	1340	102	81	SUCCESS
FBXW8	26259	.	GRCh37	12	117465265	117465265	+	synonymous_variant	Silent	SNP	G	G	A	rs188048498	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	29	0	ENST00000309909.5:c.1608G>A	p.Thr536=	p.T536=	ENST00000309909		536	acG/acA	0	.	A:0.0015	.	A:0	.	A	T	protein_coding	YES	CCDS9182.1	1608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGGTAAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22844:SF157,hmmpanther:PTHR22844	A:0	.	ENSP00000310686	A:0	10/11	.	.	.	.	.	.	.	.	rs188048498	10/11	PASS	ENST00000309909	Transcript	.	A:0.0004	ENSG00000174989	13597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FBXW8_HUMAN	FBXW8	HGNC	.	.	UPI000019AB72	SNV	FBXW8,synonymous_variant,p.%3D,ENST00000455858,;FBXW8,synonymous_variant,p.%3D,ENST00000309909,;	1690	29	33	SUCCESS
KRAS	3845	.	GRCh37	12	25398281	25398281	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs112445441	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	61	180	0	ENST00000256078.4:c.38G>A	p.Gly13Asp	p.G13D	ENST00000256078	NM_033360.2	13	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS8703.1	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACGCCACCA	SITE|p.G13D|c.38G>A|3959,SITE|p.G13D|c.38G>A|76,CODON|p.G13D|c.38_39GC>AT|22,CODON|p.G13V|c.38_39GC>TT|6,CODON|p.G13G|c.39C>T|7,CODON|p.G13G|c.39C>A|9,CODON|p.G13G|c.39C>G|3,CODON|p.G13V|c.38G>T|30,CODON|p.G13A|c.38G>C|30,BUFFER|p.S17G|c.49A>G|3,BUFFER|p.G13_V14insG|c.39_40insGGC|3,BUFFER|p.V14I|c.40G>A|16,BUFFER|p.G13C|c.37G>T|276,BUFFER|p.G13S|c.37G>A|67,BUFFER|p.G13R|c.37G>C|50,BUFFER|p.G13C|c.37G>T|10,BUFFER|p.G12E|c.35_36GT>AA|3,BUFFER|p.G12V|c.35_36GT>TC|6,BUFFER|p.G12W|c.34_36GGT>TGG|3,BUFFER|p.G12_G13insG|c.36_37insGGT|5,BUFFER|p.G12F|c.34_35GG>TT|46,BUFFER|p.G12Y|c.34_35GG>TA|3,BUFFER|p.G12I|c.34_35GG>AT|5,BUFFER|p.G12L|c.34_35GG>CT|8,BUFFER|p.G12G|c.36T>A|4,BUFFER|p.G12G|c.36T>C|7,BUFFER|p.G12V|c.35G>T|7138,BUFFER|p.G12V|c.35G>T|329,BUFFER|p.G12A|c.35G>C|1694,BUFFER|p.G12D|c.35G>A|10719,BUFFER|p.G12D|c.35G>A|342,BUFFER|p.G12A|c.35G>C|39,BUFFER|p.G12R|c.34G>C|1024,BUFFER|p.G12S|c.34G>A|1507,BUFFER|p.G12C|c.34G>T|3713,BUFFER|p.G12S|c.34G>A|27,BUFFER|p.G12C|c.34G>T|80,BUFFER|p.G12R|c.34G>C|101,BUFFER|p.A11V|c.32C>T|3,BUFFER|p.G10_A11insG|c.30_31insGGA|5	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000256078	.	2/6	.	.	.	.	.	.	.	.	COSM533,COSM532,COSM534,COSM1152504,COSM1140132,COSM3384257	2/6	PASS	ENST00000256078	Transcript	.	.	ENSG00000133703	6407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	.	possibly_damaging(0.506)	.	deleterious(0.04)	1,1,1,1,1,1	RASK_HUMAN	KRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN	.	UPI0000133132	SNV	KRAS,missense_variant,p.Gly13Asp,ENST00000256078,;KRAS,missense_variant,p.Gly13Asp,ENST00000311936,;KRAS,missense_variant,p.Gly13Asp,ENST00000556131,;KRAS,missense_variant,p.Gly13Asp,ENST00000557334,;	102	180	132	SUCCESS
DTX3	196403	.	GRCh37	12	58001190	58001190	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	87	0	ENST00000337737.3:c.544C>T	p.His182Tyr	p.H182Y	ENST00000337737	NM_178502.2	182	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS41800.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCATTCA	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12622,PROSITE_patterns:PS00518,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000447873	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,missense_variant,p.His182Tyr,ENST00000337737,;DTX3,missense_variant,p.His182Tyr,ENST00000548804,;DTX3,missense_variant,p.His182Tyr,ENST00000548198,;DTX3,missense_variant,p.His185Tyr,ENST00000549583,;DTX3,missense_variant,p.His175Tyr,ENST00000548478,;DTX3,missense_variant,p.His185Tyr,ENST00000551632,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000550596,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;DTX3,upstream_gene_variant,,ENST00000550300,;PIP4K2C,downstream_gene_variant,,ENST00000540759,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;	2048	87	78	SUCCESS
STARD13	90627	.	GRCh37	13	33859883	33859883	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	15	0	ENST00000336934.5:c.-108T>C		p.*36*	ENST00000336934	NM_178006.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9348.1	.	MUTECT|MUSE	.	GACCCAGCGAT	NONE	.	.	.	.	.	ENSP00000338785	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000336934	Transcript	.	.	ENSG00000133121	19164	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STA13_HUMAN	STARD13	HGNC	B3KT04_HUMAN,B2R789_HUMAN	.	UPI000006226E	SNV	STARD13,5_prime_UTR_variant,,ENST00000336934,;STARD13,intron_variant,,ENST00000567873,;STARD13-AS,downstream_gene_variant,,ENST00000608628,;STARD13-AS,downstream_gene_variant,,ENST00000609788,;STARD13-AS,downstream_gene_variant,,ENST00000609137,;STARD13-AS,downstream_gene_variant,,ENST00000590003,;STARD13-AS,downstream_gene_variant,,ENST00000608695,;STARD13-AS,downstream_gene_variant,,ENST00000609588,;STARD13-AS,downstream_gene_variant,,ENST00000591781,;STARD13-AS,downstream_gene_variant,,ENST00000608175,;STARD13-AS,downstream_gene_variant,,ENST00000589816,;STARD13-AS,downstream_gene_variant,,ENST00000609063,;STARD13-AS,downstream_gene_variant,,ENST00000609061,;STARD13-AS,downstream_gene_variant,,ENST00000609615,;STARD13-AS,downstream_gene_variant,,ENST00000589472,;STARD13-AS,downstream_gene_variant,,ENST00000586424,;STARD13-AS,downstream_gene_variant,,ENST00000608315,;STARD13-AS,downstream_gene_variant,,ENST00000592544,;STARD13-AS,downstream_gene_variant,,ENST00000588660,;STARD13-AS,downstream_gene_variant,,ENST00000588966,;STARD13-AS,downstream_gene_variant,,ENST00000609997,;STARD13-AS,downstream_gene_variant,,ENST00000609536,;STARD13-AS,downstream_gene_variant,,ENST00000609343,;STARD13-AS,downstream_gene_variant,,ENST00000590997,;STARD13-AS,downstream_gene_variant,,ENST00000589122,;STARD13-AS,downstream_gene_variant,,ENST00000587441,;STARD13-AS,downstream_gene_variant,,ENST00000610218,;STARD13-AS,downstream_gene_variant,,ENST00000609351,;STARD13-AS,downstream_gene_variant,,ENST00000609167,;STARD13-AS,downstream_gene_variant,,ENST00000609335,;STARD13-AS,downstream_gene_variant,,ENST00000609790,;STARD13-AS,downstream_gene_variant,,ENST00000609233,;STARD13-AS,downstream_gene_variant,,ENST00000609608,;STARD13-AS,downstream_gene_variant,,ENST00000608539,;STARD13-AS,downstream_gene_variant,,ENST00000608060,;STARD13-AS,downstream_gene_variant,,ENST00000590434,;STARD13,non_coding_transcript_exon_variant,,ENST00000487412,;STARD13,upstream_gene_variant,,ENST00000498019,;STARD13,upstream_gene_variant,,ENST00000344312,;	10	15	23	SUCCESS
IGHV2-70	28454	.	GRCh37	14	107178850	107178850	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	289	171	483	0	ENST00000390634.2:c.327G>T	p.Val109=	p.V109=	ENST00000390634		109	gtG/gtT	0	.	.	.	.	.	A	V	IG_V_gene	YES	.	327	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCCACAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375043	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390634	Transcript	.	.	ENSG00000211974	5577	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGHV2-70	HGNC	.	.	UPI000011AAC1	SNV	IGHV2-70,synonymous_variant,p.%3D,ENST00000390634,;IGHV3-71,downstream_gene_variant,,ENST00000523324,;	403	484	460	SUCCESS
ZSCAN29	146050	.	GRCh37	15	43656356	43656356	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	60	0	ENST00000396976.2:c.1447A>C	p.Thr483Pro	p.T483P	ENST00000396976	NM_152455.3	483	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS10095.2	1447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTCTCTG	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209,Pfam_domain:PF13837	.	.	ENSP00000380174	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000396976	Transcript	.	.	ENSG00000140265	26673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	deleterious(0.04)	.	ZSC29_HUMAN	ZSCAN29	HGNC	Q96AG1_HUMAN,H3BVH1_HUMAN	.	UPI0000DA5AF5	SNV	ZSCAN29,missense_variant,p.Thr482Pro,ENST00000562072,;ZSCAN29,missense_variant,p.Thr483Pro,ENST00000396976,;ZSCAN29,3_prime_UTR_variant,,ENST00000570181,;ZSCAN29,intron_variant,,ENST00000396972,;ZSCAN29,intron_variant,,ENST00000568898,;ZSCAN29,3_prime_UTR_variant,,ENST00000566849,;	1582	60	75	SUCCESS
ST8SIA2	8128	.	GRCh37	15	92988127	92988127	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	43	0	ENST00000268164.3:c.810C>T	p.Tyr270=	p.Y270=	ENST00000268164	NM_006011.3	270	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS10372.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATACCCCTC	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR11987:SF30,hmmpanther:PTHR11987	.	.	ENSP00000268164	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000268164	Transcript	.	.	ENSG00000140557	10870	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA8B_HUMAN	ST8SIA2	HGNC	B2R9U8_HUMAN	.	UPI0000135970	SNV	ST8SIA2,synonymous_variant,p.%3D,ENST00000539113,;ST8SIA2,synonymous_variant,p.%3D,ENST00000555434,;ST8SIA2,synonymous_variant,p.%3D,ENST00000268164,;ST8SIA2,non_coding_transcript_exon_variant,,ENST00000556382,;	1047	43	38	SUCCESS
PHKB	5257	.	GRCh37	16	47630379	47630379	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	41	166	0	ENST00000323584.5:c.1300T>A	p.Cys434Ser	p.C434S	ENST00000323584	NM_000293.2	434	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS10729.1	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTGTGGC	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3,Pfam_domain:PF00723,Superfamily_domains:SSF48208	.	.	ENSP00000313504	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000323584	Transcript	.	.	ENSG00000102893	8927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.73)	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Cys434Ser,ENST00000299167,;PHKB,missense_variant,p.Cys434Ser,ENST00000323584,;PHKB,missense_variant,p.Cys15Ser,ENST00000568439,;PHKB,missense_variant,p.Cys427Ser,ENST00000566044,;PHKB,missense_variant,p.Cys427Ser,ENST00000455779,;PHKB,non_coding_transcript_exon_variant,,ENST00000566436,;NDUFA5P11,downstream_gene_variant,,ENST00000567995,;	1324	166	159	SUCCESS
TMEM132E	124842	.	GRCh37	17	32959873	32959873	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	39	0	ENST00000321639.5:c.1363G>C	p.Asp455His	p.D455H	ENST00000321639	NM_207313.1	455	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS11283.1	1363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAGATGCC	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Asp455His,ENST00000321639,;TMEM132E,upstream_gene_variant,,ENST00000577271,;	1691	39	61	SUCCESS
SP6	80320	.	GRCh37	17	45925436	45925436	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747991818	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	35	0	ENST00000342234.2:c.360G>T	p.Trp120Cys	p.W120C	ENST00000342234	NM_199262.2	120	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS11520.1	360	MUTECT|MUSE	.	TCCCACCACGA	NONE	.	.	hmmpanther:PTHR23223:SF138,hmmpanther:PTHR23223	.	.	ENSP00000438209	.	2/2	.	.	.	.	.	.	.	.	rs747991818	2/2	PASS	ENST00000536300	Transcript	.	.	ENSG00000189120	14530	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SP6_HUMAN	SP6	HGNC	.	.	UPI000022A416	SNV	SP6,missense_variant,p.Trp120Cys,ENST00000536300,;SP6,missense_variant,p.Trp120Cys,ENST00000342234,;	692	35	17	SUCCESS
KIAA1468	0	.	GRCh37	18	59947916	59947948	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	ATTATGGAAACAGTAATTCAAAGAGAGGTAGGA	ATTATGGAAACAGTAATTCAAAGAGAGGTAGGA	-	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	ATTATGGAAACAGTAATTCAAAGAGAGGTAGGA	ATTATGGAAACAGTAATTCAAAGAGAGGTAGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	84	0	ENST00000398130.2:c.3090_3114+8del		p.X1030_splice	ENST00000398130	NM_020854.3	1030		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11979.2	3088-?	VARSCANI*|PINDEL	.	GGCACTATTATGGAAACAGTAATTCAAAGAGAGGTAGGAATAAT	NONE	.	.	.	.	.	ENSP00000381198	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000398130	Transcript	.	.	ENSG00000134444	29289	2	.	HIGH	24/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1468_HUMAN	KIAA1468	HGNC	Q96ES0_HUMAN	.	UPI0000DA5AF7	deletion	KIAA1468,splice_donor_variant,,ENST00000256858,;KIAA1468,splice_donor_variant,,ENST00000398130,;KIAA1468,splice_donor_variant,,ENST00000587764,;KIAA1468,upstream_gene_variant,,ENST00000593217,;KIAA1468,upstream_gene_variant,,ENST00000587714,;KIAA1468,splice_donor_variant,,ENST00000587198,;	3320-?	84	66	SUCCESS
SBNO2	22904	.	GRCh37	19	1112842	1112842	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	44	0	ENST00000361757.3:c.2354A>G	p.Lys785Arg	p.K785R	ENST00000361757	NM_014963.2	785	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS45894.1	2354	RADIA|MUTECT|MUSE	.	GCTGCTTCTCC	NONE	.	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706,Pfam_domain:PF13871	.	.	ENSP00000354733	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	tolerated(0.07)	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,missense_variant,p.Lys728Arg,ENST00000438103,;SBNO2,missense_variant,p.Lys775Arg,ENST00000587024,;SBNO2,missense_variant,p.Lys785Arg,ENST00000361757,;SBNO2,downstream_gene_variant,,ENST00000592222,;SBNO2,upstream_gene_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000590446,;SBNO2,upstream_gene_variant,,ENST00000587673,;	2592	44	15	SUCCESS
CD22	933	.	GRCh37	19	35828792	35828792	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	30	0	ENST00000085219.5:c.853T>C	p.Ser285Pro	p.S285P	ENST00000085219	NM_001771.3	285	Tcg/Ccg	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS12457.1	853	RADIA|VARSCANS	.	GGACCTCGCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000085219	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000085219	Transcript	.	.	ENSG00000012124	1643	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.37)	.	CD22_HUMAN	CD22	HGNC	Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN	.	UPI000012733D	SNV	CD22,missense_variant,p.Ser285Pro,ENST00000544992,;CD22,missense_variant,p.Ser165Pro,ENST00000270311,;CD22,missense_variant,p.Ser285Pro,ENST00000085219,;CD22,missense_variant,p.Ser285Pro,ENST00000536635,;CD22,missense_variant,p.Ser113Pro,ENST00000419549,;CD22,intron_variant,,ENST00000600424,;CD22,intron_variant,,ENST00000341773,;CD22,intron_variant,,ENST00000594250,;CD22,intron_variant,,ENST00000599811,;CD22,downstream_gene_variant,,ENST00000595780,;CD22,downstream_gene_variant,,ENST00000600131,;CD22,downstream_gene_variant,,ENST00000593867,;CD22,downstream_gene_variant,,ENST00000597916,;CD22,non_coding_transcript_exon_variant,,ENST00000601329,;CD22,non_coding_transcript_exon_variant,,ENST00000598028,;CD22,intron_variant,,ENST00000597433,;CD22,intron_variant,,ENST00000598815,;CD22,downstream_gene_variant,,ENST00000595419,;CD22,downstream_gene_variant,,ENST00000598138,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000601414,;CD22,downstream_gene_variant,,ENST00000600905,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,3_prime_UTR_variant,,ENST00000594349,;CD22,intron_variant,,ENST00000600655,;CD22,upstream_gene_variant,,ENST00000594125,;CD22,upstream_gene_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000602224,;CD22,downstream_gene_variant,,ENST00000599717,;CD22,downstream_gene_variant,,ENST00000596492,;	919	30	38	SUCCESS
GGN	199720	.	GRCh37	19	38877740	38877740	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	22	0	ENST00000334928.6:c.162C>T	p.Ser54=	p.S54=	ENST00000334928	NM_152657.3	54	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12516.1	162	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGCTGCC	NONE	.	.	hmmpanther:PTHR22979:SF18,hmmpanther:PTHR22979	.	.	ENSP00000334940	.	3/4	.	.	.	.	.	.	.	.	COSM1393353	3/4	PASS	ENST00000334928	Transcript	.	.	ENSG00000179168	18869	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	GGN_HUMAN	GGN	HGNC	K7ENT5_HUMAN,K7EJI6_HUMAN	.	UPI0000073CAB	SNV	GGN,synonymous_variant,p.%3D,ENST00000334928,;GGN,synonymous_variant,p.%3D,ENST00000587676,;GGN,intron_variant,,ENST00000586599,;SPRED3,upstream_gene_variant,,ENST00000338502,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000592035,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000592561,;PSMD8,downstream_gene_variant,,ENST00000215071,;PSMD8,downstream_gene_variant,,ENST00000585598,;SPRED3,upstream_gene_variant,,ENST00000586301,;SPRED3,upstream_gene_variant,,ENST00000587013,;AC005789.9,downstream_gene_variant,,ENST00000585411,;GGN,intron_variant,,ENST00000591809,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,intron_variant,,ENST00000585737,;SPRED3,upstream_gene_variant,,ENST00000586958,;PSMD8,downstream_gene_variant,,ENST00000590331,;SPRED3,upstream_gene_variant,,ENST00000590962,;	295	22	18	SUCCESS
ZNF415	55786	.	GRCh37	19	53612315	53612315	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	75	0	ENST00000500065.4:c.983A>T	p.Tyr328Phe	p.Y328F	ENST00000500065	NM_001136038.2	328	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS54313.1	983	RADIA|MUTECT|MUSE	.	ATGTGTAAGGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.894)	.	deleterious(0.03)	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,missense_variant,p.Tyr315Phe,ENST00000440291,;ZNF415,missense_variant,p.Tyr376Phe,ENST00000455735,;ZNF415,missense_variant,p.Tyr376Phe,ENST00000448501,;ZNF415,missense_variant,p.Tyr98Phe,ENST00000601493,;ZNF415,missense_variant,p.Tyr328Phe,ENST00000500065,;ZNF415,missense_variant,p.Tyr328Phe,ENST00000243643,;ZNF415,missense_variant,p.Tyr340Phe,ENST00000421033,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	1317	75	51	SUCCESS
AMY1C	278	.	GRCh37	1	104293194	104293194	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs938886200	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	13	0	ENST00000370079.3:c.103C>T	p.Arg35Ter	p.R35*	ENST00000370079	NM_001008219.1	35	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS30784.1	103	RADIA|VARSCANS	.	AATGGCGATGG	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000359096	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000370079	Transcript	.	.	ENSG00000187733	476	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMY1_HUMAN	AMY1C	HGNC	Q5T085_HUMAN,Q5T084_HUMAN	.	UPI0000125AA9	SNV	AMY1C,stop_gained,p.Arg35Ter,ENST00000370079,;	167	13	26	SUCCESS
KIFAP3	22920	.	GRCh37	1	170007568	170007568	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	44	131	0	ENST00000361580.2:c.380A>T	p.Asp127Val	p.D127V	ENST00000361580	NM_014970.3	127	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS1288.1	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATCAATC	NONE	.	.	hmmpanther:PTHR15605,Pfam_domain:PF05804	.	.	ENSP00000354560	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000361580	Transcript	.	.	ENSG00000075945	17060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0.03)	.	KIFA3_HUMAN	KIFAP3	HGNC	B7Z7E7_HUMAN	.	UPI000006CD6C	SNV	KIFAP3,missense_variant,p.Asp127Val,ENST00000361580,;KIFAP3,missense_variant,p.Asp49Val,ENST00000538366,;KIFAP3,missense_variant,p.Asp87Val,ENST00000367765,;KIFAP3,missense_variant,p.Asp83Val,ENST00000367767,;KIFAP3,non_coding_transcript_exon_variant,,ENST00000490550,;	608	131	144	SUCCESS
RGL1	23179	.	GRCh37	1	183885770	183885770	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	95	0	ENST00000360851.3:c.1939G>T	p.Glu647Ter	p.E647*	ENST00000360851		647	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS1359.1	2044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATGAAGAC	NONE	.	.	Superfamily_domains:SSF54236,Gene3D:3.10.20.90	.	.	ENSP00000303192	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000304685	Transcript	.	.	ENSG00000143344	30281	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL1_HUMAN	RGL1	HGNC	.	.	UPI000002B24C	SNV	RGL1,stop_gained,p.Glu682Ter,ENST00000304685,;RGL1,stop_gained,p.Glu618Ter,ENST00000539189,;RGL1,stop_gained,p.Glu645Ter,ENST00000536277,;RGL1,stop_gained,p.Glu647Ter,ENST00000360851,;	2493	95	68	SUCCESS
PGBD2	267002	.	GRCh37	1	249211640	249211640	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs560395632	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	56	115	0	ENST00000329291.5:c.857G>T	p.Arg286Met	p.R286M	ENST00000329291	NM_170725.2	286	aGg/aTg	0	.	A:0	.	A:0	.	T	R/M	protein_coding	YES	CCDS31128.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGGGGGA	NONE	byFrequency|by1000G	.	Pfam_domain:PF13843	A:0	.	ENSP00000331643	A:0	3/3	.	.	.	.	.	.	.	.	rs560395632	3/3	PASS	ENST00000329291	Transcript	.	A:0.0004	ENSG00000185220	19399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	A:0.002	tolerated(0.08)	.	PGBD2_HUMAN	PGBD2	HGNC	.	.	UPI000016196D	SNV	PGBD2,missense_variant,p.Arg283Met,ENST00000539153,;PGBD2,missense_variant,p.Arg286Met,ENST00000329291,;PGBD2,missense_variant,p.Arg35Met,ENST00000355360,;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,downstream_gene_variant,,ENST00000462488,;	1004	115	115	SUCCESS
C1orf94	84970	.	GRCh37	1	34667861	34667861	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs754997639	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	101	0	ENST00000488417.1:c.1446+1G>T		p.X482_splice	ENST00000488417	NM_001134734.1	482		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44108.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGTCAGT	NONE	.	.	.	.	.	ENSP00000435634	.	.	.	.	.	.	.	.	.	.	rs754997639	.	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	HIGH	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,splice_donor_variant,,ENST00000488417,;C1orf94,splice_donor_variant,,ENST00000373374,;	.	101	76	SUCCESS
SNPH	9751	.	GRCh37	20	1285530	1285530	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	51	0	ENST00000381873.3:c.317A>G	p.Glu106Gly	p.E106G	ENST00000381873	NM_014723.2	106	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS13012.1	317	MUTECT|MUSE	.	CACAGAGATTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16208:SF1,hmmpanther:PTHR16208,Pfam_domain:PF15290	.	.	ENSP00000371297	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381873	Transcript	.	.	ENSG00000101298	15931	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SNPH_HUMAN	SNPH	HGNC	.	.	UPI000007424E	SNV	SNPH,missense_variant,p.Glu106Gly,ENST00000381873,;SNPH,missense_variant,p.Glu150Gly,ENST00000381867,;	553	51	39	SUCCESS
TCF20	6942	.	GRCh37	22	42608580	42608580	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1400044584	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	58	138	0	ENST00000359486.3:c.2732C>G	p.Pro911Arg	p.P911R	ENST00000359486	NM_005650.2	911	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS14033.1	2732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGAAGA	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Pro911Arg,ENST00000335626,;TCF20,missense_variant,p.Pro911Arg,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	2869	138	152	SUCCESS
ITGA4	3676	.	GRCh37	2	182350624	182350624	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1195462762	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	46	124	0	ENST00000397033.2:c.1058C>T	p.Ala353Val	p.A353V	ENST00000397033	NM_000885.4	353	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42788.1	1058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCAATGG	NONE	.	.	hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,Pfam_domain:PF13517,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000380227	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	deleterious(0.02)	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,missense_variant,p.Ala353Val,ENST00000233573,;ITGA4,missense_variant,p.Ala353Val,ENST00000397033,;ITGA4,non_coding_transcript_exon_variant,,ENST00000465522,;	1488	124	124	SUCCESS
ATG16L1	55054	.	GRCh37	2	234171807	234171807	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	91	0	ENST00000392017.4:c.241C>G	p.Gln81Glu	p.Q81E	ENST00000392017	NM_001190266.1	81	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS2503.2	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATCAGCTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19878,hmmpanther:PTHR19878:SF3,Pfam_domain:PF08614	.	.	ENSP00000375872	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000392017	Transcript	.	.	ENSG00000085978	21498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.438)	.	tolerated(1)	.	A16L1_HUMAN	ATG16L1	HGNC	Q53SV2_HUMAN,Q17RG0_HUMAN,F8WAF9_HUMAN,D9N2U2_HUMAN,C9J8C6_HUMAN	.	UPI0000208D0D	SNV	ATG16L1,missense_variant,p.Gln81Glu,ENST00000392017,;ATG16L1,missense_variant,p.Gln81Glu,ENST00000392020,;ATG16L1,missense_variant,p.Gln81Glu,ENST00000417017,;ATG16L1,missense_variant,p.Gln81Glu,ENST00000392018,;ATG16L1,5_prime_UTR_variant,,ENST00000431917,;ATG16L1,intron_variant,,ENST00000373525,;ATG16L1,intron_variant,,ENST00000444735,;ATG16L1,intron_variant,,ENST00000347464,;ATG16L1,intron_variant,,ENST00000419681,;ATG16L1,upstream_gene_variant,,ENST00000498620,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000485623,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;	498	91	56	SUCCESS
KIAA1211L	0	.	GRCh37	2	99454679	99454679	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	57	92	0	ENST00000397899.2:c.142T>C	p.Ser48Pro	p.S48P	ENST00000397899	NM_207362.2	48	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS42720.1	142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGACGACG	NONE	.	.	hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	.	.	ENSP00000380996	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000397899	Transcript	.	.	ENSG00000196872	33454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious(0.05)	.	K121L_HUMAN	KIAA1211L	HGNC	.	.	UPI0000E59245	SNV	KIAA1211L,missense_variant,p.Ser62Pro,ENST00000415261,;KIAA1211L,missense_variant,p.Ser48Pro,ENST00000397899,;KIAA1211L,missense_variant,p.Ser62Pro,ENST00000428096,;KIAA1211L,missense_variant,p.Ser76Pro,ENST00000423771,;RNU7-46P,downstream_gene_variant,,ENST00000459066,;KIAA1211L,non_coding_transcript_exon_variant,,ENST00000462314,;	474	92	118	SUCCESS
EIF5B	9669	.	GRCh37	2	99953881	99953881	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs571700410	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	13	0	ENST00000289371.6:c.-137G>T		p.*46*	ENST00000289371	NM_015904.3			0	.	C:0	.	C:0	.	T	.	protein_coding	YES	CCDS42721.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGGGTCTG	NONE	by1000G	.	.	C:0	.	ENSP00000289371	C:0	1/24	.	.	.	.	.	.	.	.	rs571700410	1/24	PASS	ENST00000289371	Transcript	.	C:0.0002	ENSG00000158417	30793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	IF2P_HUMAN	EIF5B	HGNC	D3DVI5_HUMAN	.	UPI0000207EC7	SNV	EIF5B,5_prime_UTR_variant,,ENST00000289371,;TXNDC9,intron_variant,,ENST00000409705,;TXNDC9,upstream_gene_variant,,ENST00000264255,;TXNDC9,upstream_gene_variant,,ENST00000409434,;TXNDC9,upstream_gene_variant,,ENST00000434323,;TXNDC9,intron_variant,,ENST00000477337,;TXNDC9,upstream_gene_variant,,ENST00000465183,;TXNDC9,upstream_gene_variant,,ENST00000422767,;TXNDC9,upstream_gene_variant,,ENST00000438680,;TXNDC9,upstream_gene_variant,,ENST00000463385,;	66	13	14	SUCCESS
EIF2B5	8893	.	GRCh37	3	183855595	183855595	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	107	0	ENST00000273783.3:c.506+2T>A		p.X169_splice	ENST00000273783	NM_003907.2	169		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3252.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTCAGGA	NONE	.	.	.	.	.	ENSP00000273783	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273783	Transcript	.	.	ENSG00000145191	3261	.	.	HIGH	3/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BE_HUMAN	EIF2B5	HGNC	C9JRD9_HUMAN	.	UPI000013D9CF	SNV	EIF2B5,splice_donor_variant,,ENST00000273783,;EIF2B5,splice_donor_variant,,ENST00000444495,;EIF2B5,downstream_gene_variant,,ENST00000432569,;RP11-778D9.13,upstream_gene_variant,,ENST00000609288,;RP11-778D9.12,upstream_gene_variant,,ENST00000608232,;RP11-778D9.12,upstream_gene_variant,,ENST00000608135,;EIF2B5,splice_donor_variant,,ENST00000498831,;EIF2B5,upstream_gene_variant,,ENST00000492773,;EIF2B5,downstream_gene_variant,,ENST00000471832,;EIF2B5,upstream_gene_variant,,ENST00000479833,;EIF2B5,splice_donor_variant,,ENST00000481054,;EIF2B5,splice_donor_variant,,ENST00000491008,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491144,;EIF2B5,intron_variant,,ENST00000432982,;EIF2B5,upstream_gene_variant,,ENST00000479250,;EIF2B5,upstream_gene_variant,,ENST00000493740,;EIF2B5,upstream_gene_variant,,ENST00000468748,;EIF2B5,upstream_gene_variant,,ENST00000465218,;EIF2B5,upstream_gene_variant,,ENST00000484154,;	.	107	110	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	108	0	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2694.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAAACTAC	SITE|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	108	73	SUCCESS
MITF	4286	.	GRCh37	3	70014270	70014270	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	73	0	ENST00000352241.4:c.1434C>A	p.Ile478=	p.I478=	ENST00000352241	NM_198159.2	478	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS43106.1	1434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCCTGAT	NONE	.	.	hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF38,Pfam_domain:PF11851	.	.	ENSP00000295600	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000352241	Transcript	.	.	ENSG00000187098	7105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MITF_HUMAN	MITF	HGNC	C9K0S7_HUMAN	.	UPI000002ADF8	SNV	MITF,synonymous_variant,p.%3D,ENST00000314589,;MITF,synonymous_variant,p.%3D,ENST00000394351,;MITF,synonymous_variant,p.%3D,ENST00000472437,;MITF,synonymous_variant,p.%3D,ENST00000352241,;MITF,synonymous_variant,p.%3D,ENST00000531774,;MITF,synonymous_variant,p.%3D,ENST00000328528,;MITF,synonymous_variant,p.%3D,ENST00000394355,;MITF,synonymous_variant,p.%3D,ENST00000448226,;MITF,synonymous_variant,p.%3D,ENST00000314557,;MITF,3_prime_UTR_variant,,ENST00000478490,;	1597	73	78	SUCCESS
EPHA6	285220	.	GRCh37	3	96706703	96706703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	131	1	ENST00000389672.5:c.980G>A	p.Arg327Gln	p.R327Q	ENST00000389672	NM_001080448.2	327	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS46876.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACGGGGTT	NONE	.	.	hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416	.	.	ENSP00000374323	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Arg272Gln,ENST00000506569,;EPHA6,missense_variant,p.Arg327Gln,ENST00000389672,;EPHA6,missense_variant,p.Arg233Gln,ENST00000542517,;EPHA6,missense_variant,p.Arg327Gln,ENST00000470610,;	1018	132	114	SUCCESS
ELOVL7	79993	.	GRCh37	5	60083199	60083199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	70	0	ENST00000425382.1:c.26G>T	p.Arg9Met	p.R9M	ENST00000425382	NM_001104558.1	9	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS34164.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCTCGAT	NONE	.	.	hmmpanther:PTHR11157:SF8,hmmpanther:PTHR11157	.	.	ENSP00000424123	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000508821	Transcript	.	.	ENSG00000164181	26292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.264)	.	tolerated(0.07)	.	ELOV7_HUMAN	ELOVL7	HGNC	D6RBM2_HUMAN	.	UPI000004CAF4	SNV	ELOVL7,missense_variant,p.Arg9Met,ENST00000511799,;ELOVL7,missense_variant,p.Arg9Met,ENST00000425382,;ELOVL7,missense_variant,p.Arg9Met,ENST00000507047,;ELOVL7,missense_variant,p.Arg9Met,ENST00000508821,;ELOVL7,missense_variant,p.Arg9Met,ENST00000438340,;ELOVL7,5_prime_UTR_variant,,ENST00000505959,;ELOVL7,missense_variant,p.Arg9Met,ENST00000514809,;ELOVL7,missense_variant,p.Arg9Met,ENST00000504455,;	341	70	52	SUCCESS
CMYA5	202333	.	GRCh37	5	79035108	79035108	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	50	0	ENST00000446378.2:c.10520C>A	p.Ser3507Tyr	p.S3507Y	ENST00000446378	NM_153610.3	3507	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS47238.1	10520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCCCAGA	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,missense_variant,p.Ser3507Tyr,ENST00000446378,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	10551	50	90	SUCCESS
ZNF862	643641	.	GRCh37	7	149557718	149557718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	72	0	ENST00000223210.4:c.1469G>T	p.Cys490Phe	p.C490F	ENST00000223210	NM_001099220.1	490	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS47741.1	1469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTGCATAG	NONE	.	.	hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF43,SMART_domains:SM00597	.	.	ENSP00000223210	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000223210	Transcript	.	.	ENSG00000106479	34519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN862_HUMAN	ZNF862	HGNC	C9JB70_HUMAN	.	UPI000016105C	SNV	ZNF862,missense_variant,p.Cys490Phe,ENST00000223210,;RP4-751H13.7,non_coding_transcript_exon_variant,,ENST00000608963,;ZNF862,downstream_gene_variant,,ENST00000478024,;	1714	72	78	SUCCESS
ZNF862	643641	.	GRCh37	7	149557719	149557719	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	73	0	ENST00000223210.4:c.1470C>A	p.Cys490Ter	p.C490*	ENST00000223210	NM_001099220.1	490	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS47741.1	1470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCATAGA	NONE	.	.	hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF43,SMART_domains:SM00597	.	.	ENSP00000223210	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000223210	Transcript	.	.	ENSG00000106479	34519	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN862_HUMAN	ZNF862	HGNC	C9JB70_HUMAN	.	UPI000016105C	SNV	ZNF862,stop_gained,p.Cys490Ter,ENST00000223210,;RP4-751H13.7,non_coding_transcript_exon_variant,,ENST00000608963,;ZNF862,downstream_gene_variant,,ENST00000478024,;	1715	73	77	SUCCESS
ITGB8	3696	.	GRCh37	7	20418810	20418810	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	110	0	ENST00000222573.4:c.525A>T	p.Arg175Ser	p.R175S	ENST00000222573	NM_002214.2	175	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS5370.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGAAAAAT	NONE	.	.	hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300	.	.	ENSP00000222573	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000222573	Transcript	.	.	ENSG00000105855	6163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.08)	.	ITB8_HUMAN	ITGB8	HGNC	B4DHD4_HUMAN	.	UPI000012DA14	SNV	ITGB8,missense_variant,p.Arg175Ser,ENST00000222573,;ITGB8,missense_variant,p.Arg40Ser,ENST00000537992,;SNORD56,downstream_gene_variant,,ENST00000363883,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;ITGB8,non_coding_transcript_exon_variant,,ENST00000477859,;	1209	110	100	SUCCESS
DNAH11	8701	.	GRCh37	7	21657266	21657266	+	synonymous_variant	Silent	SNP	C	C	T	rs570983771	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	70	0	ENST00000409508.3:c.4125C>T	p.Arg1375=	p.R1375=	ENST00000409508	NM_001277115.1	1375	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	.	4140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCGCGTCTG	CODON|p.V1381I|c.4141G>A|3,BUFFER|p.R1380H|c.4139G>A|3,BUFFER|p.R1380H|c.4139G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000330671	.	23/83	.	.	.	.	.	.	.	.	rs570983771	23/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,synonymous_variant,p.%3D,ENST00000328843,;DNAH11,synonymous_variant,p.%3D,ENST00000409508,;DNAH11,upstream_gene_variant,,ENST00000465593,;	4171	70	47	SUCCESS
GUSB	2990	.	GRCh37	7	65435332	65435332	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	30	0	ENST00000304895.4:c.1413A>G	p.Lys471=	p.K471=	ENST00000304895	NM_000181.3	471	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS5530.1	1413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATTTGGT	NONE	.	.	hmmpanther:PTHR10066:SF51,hmmpanther:PTHR10066,Pfam_domain:PF02836,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000302728	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000304895	Transcript	.	.	ENSG00000169919	4696	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BGLR_HUMAN	GUSB	HGNC	.	.	UPI000013E9E0	SNV	GUSB,synonymous_variant,p.%3D,ENST00000345660,;GUSB,synonymous_variant,p.%3D,ENST00000304895,;GUSB,synonymous_variant,p.%3D,ENST00000421103,;GUSB,downstream_gene_variant,,ENST00000476486,;GUSB,downstream_gene_variant,,ENST00000465785,;GUSB,downstream_gene_variant,,ENST00000475316,;GUSB,downstream_gene_variant,,ENST00000479038,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,non_coding_transcript_exon_variant,,ENST00000462371,;GUSB,intron_variant,,ENST00000466883,;GUSB,downstream_gene_variant,,ENST00000489482,;GUSB,upstream_gene_variant,,ENST00000461622,;	1544	30	33	SUCCESS
PCLO	27445	.	GRCh37	7	82595422	82595422	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373217000	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	353	10	389	1	ENST00000333891.9:c.3682C>T	p.Arg1228Cys	p.R1228C	ENST00000333891	NM_033026.5	1228	Cgt/Tgt	0	T:0.0003	.	.	.	.	A	R/C	protein_coding	YES	CCDS47630.1	3682	MUTECT|MUSE	.	AGAACGTATCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	T:0	ENSP00000334319	.	4/25	.	.	.	.	.	.	.	.	rs373217000	4/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Arg1228Cys,ENST00000333891,;PCLO,missense_variant,p.Arg1228Cys,ENST00000423517,;PCLO,downstream_gene_variant,,ENST00000461143,;	4020	390	363	SUCCESS
RGS22	26166	.	GRCh37	8	101054142	101054142	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	77	0	ENST00000360863.6:c.1826C>T	p.Ser609Leu	p.S609L	ENST00000360863	NM_015668.3	609	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43758.1	1826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTGACCTA	NONE	.	.	hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845	.	.	ENSP00000354109	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.24)	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,missense_variant,p.Ser597Leu,ENST00000523437,;RGS22,missense_variant,p.Ser609Leu,ENST00000360863,;RGS22,missense_variant,p.Ser428Leu,ENST00000523287,;RGS22,intron_variant,,ENST00000517828,;RGS22,downstream_gene_variant,,ENST00000524182,;RGS22,splice_region_variant,,ENST00000519725,;RGS22,splice_region_variant,,ENST00000520923,;RGS22,splice_region_variant,,ENST00000518474,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;	2021	77	70	SUCCESS
CSMD1	64478	.	GRCh37	8	2876120	2876120	+	synonymous_variant	Silent	SNP	C	C	T	rs374916113	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	73	0	ENST00000537824.1:c.7908G>A	p.Thr2636=	p.T2636=	ENST00000537824	NM_033225.5	2636	acG/acA	0	T:0.0003	.	.	.	.	T	T	protein_coding	YES	CCDS55189.1	7908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAACGTTCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	T:0	ENSP00000441462	.	52/70	.	.	.	.	.	.	.	.	rs374916113,COSM243884,COSM178497,COSM178498,COSM243885	52/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000542608,;CSMD1,intron_variant,,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519623,;	7908	73	66	SUCCESS
C8orf86	389649	.	GRCh37	8	38370074	38370074	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	78	0	ENST00000358138.1:c.503T>C	p.Leu168Pro	p.L168P	ENST00000358138	NM_207412.1	168	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6108.1	503	MUTECT|MUSE	.	AGCAGAGAGGA	NONE	.	.	.	.	.	ENSP00000350856	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000358138	Transcript	.	.	ENSG00000196166	33774	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.883)	.	deleterious_low_confidence(0)	.	CH086_HUMAN	C8orf86	HGNC	.	.	UPI00001C0B34	SNV	C8orf86,missense_variant,p.Leu168Pro,ENST00000358138,;C8orf86,synonymous_variant,p.%3D,ENST00000437935,;	528	78	81	SUCCESS
PXDNL	137902	.	GRCh37	8	52384855	52384855	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757076660	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	71	0	ENST00000356297.4:c.704G>A	p.Arg235Gln	p.R235Q	ENST00000356297	NM_144651.4	235	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS47855.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCGGGGG	NONE	.	.	PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF52058,Superfamily_domains:SSF48726	.	.	ENSP00000348645	.	8/23	.	.	.	.	.	.	.	.	rs757076660,COSM1100422	8/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.663)	.	tolerated(0.24)	0,1	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Arg235Gln,ENST00000543296,;PXDNL,missense_variant,p.Arg235Gln,ENST00000356297,;	805	71	77	SUCCESS
CA3	761	.	GRCh37	8	86360370	86360370	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	70	0	ENST00000285381.2:c.771T>C	p.Ala257=	p.A257=	ENST00000285381	NM_005181.3	257	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6238.1	771	MUTECT|MUSE	.	AGAGCTTCCTT	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF96,hmmpanther:PTHR18952,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000285381	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000285381	Transcript	.	.	ENSG00000164879	1374	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAH3_HUMAN	CA3	HGNC	E5RHI4_HUMAN	.	UPI0000049C1A	SNV	CA3,synonymous_variant,p.%3D,ENST00000285381,;RP11-317J10.2,intron_variant,,ENST00000521761,;RP11-317J10.2,intron_variant,,ENST00000517697,;	854	70	74	SUCCESS
PSIP1	11168	.	GRCh37	9	15506558	15506558	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs749700330	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	45	0	ENST00000380733.4:c.149+1G>T		p.X50_splice	ENST00000380733		50		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6479.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACGTCTC	NONE	.	.	.	.	.	ENSP00000370109	.	.	.	.	.	.	.	.	.	.	rs749700330	.	PASS	ENST00000380733	Transcript	.	.	ENSG00000164985	9527	.	.	HIGH	3/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSIP1_HUMAN	PSIP1	HGNC	Q8N4N4_HUMAN	.	UPI0000073FC4	SNV	PSIP1,splice_donor_variant,,ENST00000397519,;PSIP1,splice_donor_variant,,ENST00000380716,;PSIP1,splice_donor_variant,,ENST00000380738,;PSIP1,splice_donor_variant,,ENST00000380733,;PSIP1,splice_donor_variant,,ENST00000380715,;PSIP1,splice_donor_variant,,ENST00000488797,;PSIP1,splice_donor_variant,,ENST00000487363,;PSIP1,splice_donor_variant,,ENST00000463712,;PSIP1,non_coding_transcript_exon_variant,,ENST00000484265,;	.	45	54	SUCCESS
UXT	8409	.	GRCh37	X	47516683	47516683	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	39	59	1	ENST00000333119.3:c.255T>C	p.Asp85=	p.D85=	ENST00000333119	NM_004182.3	85	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS14284.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTATCTGG	NONE	.	.	hmmpanther:PTHR13345,Gene3D:1.10.287.370,Pfam_domain:PF02996,Superfamily_domains:SSF46579	.	.	ENSP00000337393	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000335890	Transcript	.	.	ENSG00000126756	12641	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UXT_HUMAN	UXT	HGNC	.	.	UPI0000044699	SNV	UXT,synonymous_variant,p.%3D,ENST00000335890,;UXT,synonymous_variant,p.%3D,ENST00000333119,;UXT-AS1,upstream_gene_variant,,ENST00000590504,;UXT-AS1,upstream_gene_variant,,ENST00000591832,;UXT,non_coding_transcript_exon_variant,,ENST00000460840,;UXT,missense_variant,p.Tyr75His,ENST00000485641,;UXT,non_coding_transcript_exon_variant,,ENST00000376964,;	445	60	52	SUCCESS
PHF8	23133	.	GRCh37	X	54044138	54044138	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	37	59	0	ENST00000357988.5:c.518T>G	p.Leu173Arg	p.L173R	ENST00000357988	NM_001184896.1	173	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS55420.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCAGCGTC	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11,Superfamily_domains:SSF51197	.	.	ENSP00000350676	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000357988	Transcript	.	.	ENSG00000172943	20672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	PHF8_HUMAN	PHF8	HGNC	Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN	.	UPI00001C2071	SNV	PHF8,missense_variant,p.Leu137Arg,ENST00000338154,;PHF8,missense_variant,p.Leu137Arg,ENST00000338946,;PHF8,missense_variant,p.Leu41Arg,ENST00000396282,;PHF8,missense_variant,p.Leu173Arg,ENST00000357988,;PHF8,missense_variant,p.Leu137Arg,ENST00000322659,;PHF8,downstream_gene_variant,,ENST00000433120,;PHF8,downstream_gene_variant,,ENST00000453905,;PHF8,downstream_gene_variant,,ENST00000437224,;PHF8,upstream_gene_variant,,ENST00000443302,;PHF8,downstream_gene_variant,,ENST00000415025,;PHF8,downstream_gene_variant,,ENST00000425862,;PHF8,downstream_gene_variant,,ENST00000445025,;PHF8,upstream_gene_variant,,ENST00000490635,;	877	59	51	SUCCESS
DMBT1	1755	.	GRCh37	10	124390621	124390621	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	127	0	ENST00000338354.3:c.5783G>C	p.Gly1928Ala	p.G1928A	ENST00000338354		1928	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS44490.1	5783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGGGTGTG	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	46/53	.	.	.	.	.	.	.	.	COSM3435205,COSM3435203,COSM3435204	46/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.963)	.	deleterious(0.01)	1,1,1	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Gly1300Ala,ENST00000368956,;DMBT1,missense_variant,p.Gly648Ala,ENST00000359586,;DMBT1,missense_variant,p.Gly1300Ala,ENST00000330163,;DMBT1,missense_variant,p.Gly1918Ala,ENST00000344338,;DMBT1,missense_variant,p.Gly1918Ala,ENST00000368955,;DMBT1,missense_variant,p.Gly1928Ala,ENST00000368909,;DMBT1,missense_variant,p.Gly1928Ala,ENST00000338354,;	5889	127	122	SUCCESS
ADARB2	105	.	GRCh37	10	1779280	1779280	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1257430231	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	12	0	ENST00000381312.1:c.65C>G	p.Ser22Cys	p.S22C	ENST00000381312	NM_018702.3	22	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS7058.1	65	MUTECT|MUSE	.	TCTTGGACTTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000370713	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	tolerated_low_confidence(0.09)	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,missense_variant,p.Ser22Cys,ENST00000381312,;	391	12	11	SUCCESS
DNAJC1	64215	.	GRCh37	10	22207780	22207780	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	47	0	ENST00000376980.3:c.657G>A	p.Trp219Ter	p.W219*	ENST00000376980	NM_022365.3	219	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7136.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGCCACTG	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF130	.	.	ENSP00000366179	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000376980	Transcript	.	.	ENSG00000136770	20090	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJC1_HUMAN	DNAJC1	HGNC	Q96NY3_HUMAN	.	UPI0000049FEF	SNV	DNAJC1,stop_gained,p.Trp219Ter,ENST00000376980,;DNAJC1,downstream_gene_variant,,ENST00000447548,;DNAJC1,downstream_gene_variant,,ENST00000376946,;DNAJC1,downstream_gene_variant,,ENST00000476103,;	948	47	62	SUCCESS
IGSF9B	22997	.	GRCh37	11	133815979	133815979	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1369676278	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	46	0	ENST00000321016.8:c.239C>T	p.Pro80Leu	p.P80L	ENST00000321016		80	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS61010.1	239	RADIA|MUTECT|MUSE	.	CGTGCGGCGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000436552	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Pro127Leu,ENST00000526663,;IGSF9B,missense_variant,p.Pro70Leu,ENST00000533160,;IGSF9B,missense_variant,p.Pro80Leu,ENST00000533871,;IGSF9B,missense_variant,p.Pro80Leu,ENST00000321016,;	470	46	69	SUCCESS
DEPDC7	91614	.	GRCh37	11	33037511	33037511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	89	0	ENST00000241051.3:c.10G>A	p.Val4Met	p.V4M	ENST00000241051	NM_001077242.1	4	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS41632.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGTGCAG	NONE	.	.	.	.	.	ENSP00000241051	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000241051	Transcript	.	.	ENSG00000121690	29899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	DEPD7_HUMAN	DEPDC7	HGNC	.	.	UPI000006E96C	SNV	DEPDC7,missense_variant,p.Val4Met,ENST00000241051,;DEPDC7,upstream_gene_variant,,ENST00000311388,;DEPDC7,non_coding_transcript_exon_variant,,ENST00000427755,;DEPDC7,non_coding_transcript_exon_variant,,ENST00000532078,;	102	89	54	SUCCESS
OR51E1	143503	.	GRCh37	11	4674237	4674237	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs137885627	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	90	0	ENST00000396952.5:c.481C>T	p.Pro161Ser	p.P161S	ENST00000396952	NM_152430.3	161	Ccc/Tcc	0	.	T:0	.	T:0	.	T	P/S	protein_coding	YES	CCDS31358.2	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACCCCTT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF34,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	T:0.001	.	ENSP00000380155	T:0	2/2	.	.	.	.	.	.	.	.	rs137885627	2/2	PASS	ENST00000396952	Transcript	.	T:0.0002	ENSG00000180785	15194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	T:0	deleterious(0.01)	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,missense_variant,p.Pro161Ser,ENST00000396952,;OR51E1,intron_variant,,ENST00000530215,;	1131	90	65	SUCCESS
OR56B4	196335	.	GRCh37	11	6129479	6129479	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	77	0	ENST00000316529.3:c.471G>T	p.Arg157Ser	p.R157S	ENST00000316529	NM_001005181.1	157	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31406.1	471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGAATGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF131,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000321196	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316529	Transcript	.	.	ENSG00000180919	15248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	O56B4_HUMAN	OR56B4	HGNC	.	.	UPI000004B214	SNV	OR56B4,missense_variant,p.Arg157Ser,ENST00000316529,;RP11-290F24.3,non_coding_transcript_exon_variant,,ENST00000529961,;	566	77	110	SUCCESS
KLRK1	22914	.	GRCh37	12	10525808	10525808	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	55	144	0	ENST00000240618.6:c.556A>T	p.Lys186Ter	p.K186*	ENST00000240618	NM_007360.3	186	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS8623.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTCTGCA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF14,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000240618	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240618	Transcript	.	.	ENSG00000213809	18788	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2D_HUMAN	KLRK1	HGNC	Q8WZ67_HUMAN	.	UPI000013CAB1	SNV	KLRK1,stop_gained,p.Lys186Ter,ENST00000540818,;KLRK1,stop_gained,p.Lys186Ter,ENST00000240618,;RP11-277P12.20,intron_variant,,ENST00000500682,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591546,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRK1,3_prime_UTR_variant,,ENST00000396451,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRK1,non_coding_transcript_exon_variant,,ENST00000540267,;KLRC4-KLRK1,downstream_gene_variant,,ENST00000588263,;	697	144	141	SUCCESS
TPCN1	53373	.	GRCh37	12	113704076	113704076	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	39	0	ENST00000335509.6:c.329T>C	p.Leu110Pro	p.L110P	ENST00000335509	NM_017901.4	110	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS44985.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTGATGG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF201,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000448083	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000550785	Transcript	.	.	ENSG00000186815	18182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.03)	.	TPC1_HUMAN	TPCN1	HGNC	F8W1L6_HUMAN,F8W1G4_HUMAN,F8VZZ6_HUMAN,F8VV93_HUMAN,F8VR74_HUMAN,B7Z3R2_HUMAN	.	UPI00004066FB	SNV	TPCN1,missense_variant,p.Leu42Pro,ENST00000552542,;TPCN1,missense_variant,p.Leu86Pro,ENST00000552642,;TPCN1,missense_variant,p.Leu182Pro,ENST00000541517,;TPCN1,missense_variant,p.Leu42Pro,ENST00000392569,;TPCN1,missense_variant,p.Leu42Pro,ENST00000548465,;TPCN1,missense_variant,p.Leu42Pro,ENST00000552897,;TPCN1,missense_variant,p.Leu110Pro,ENST00000335509,;TPCN1,missense_variant,p.Leu196Pro,ENST00000552985,;TPCN1,missense_variant,p.Leu182Pro,ENST00000550785,;TPCN1,downstream_gene_variant,,ENST00000550873,;TPCN1,downstream_gene_variant,,ENST00000547275,;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,;TPCN1,non_coding_transcript_exon_variant,,ENST00000428632,;	714	39	55	SUCCESS
TAOK3	51347	.	GRCh37	12	118639247	118639247	+	synonymous_variant	Silent	SNP	G	G	T	rs537291817	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	39	110	0	ENST00000392533.3:c.841C>A	p.Arg281=	p.R281=	ENST00000392533	NM_016281.3	281	Cgg/Agg	0	.	A:0.0008	.	A:0	.	T	R	protein_coding	YES	CCDS9188.1	841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGTCTC	NONE	by1000G	.	hmmpanther:PTHR24361:SF187,hmmpanther:PTHR24361,Gene3D:1.10.510.10	A:0	.	ENSP00000376317	A:0	12/21	.	.	.	.	.	.	.	.	rs537291817	12/21	PASS	ENST00000392533	Transcript	.	A:0.0002	ENSG00000135090	18133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TAOK3_HUMAN	TAOK3	HGNC	G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN	.	UPI000007231B	SNV	TAOK3,synonymous_variant,p.%3D,ENST00000392533,;TAOK3,synonymous_variant,p.%3D,ENST00000538601,;TAOK3,synonymous_variant,p.%3D,ENST00000419821,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;TAOK3,non_coding_transcript_exon_variant,,ENST00000536584,;	1332	110	109	SUCCESS
GCN1L1	0	.	GRCh37	12	120578768	120578768	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1358396940	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	55	0	ENST00000300648.6:c.5889G>T	p.Glu1963Asp	p.E1963D	ENST00000300648	NM_006836.1	1963	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS41847.1	5889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCTCGGG	NONE	.	.	Superfamily_domains:SSF48371,Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000300648	.	45/58	.	.	.	.	.	.	.	.	.	45/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Glu1963Asp,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000547263,;GCN1L1,upstream_gene_variant,,ENST00000549815,;	5902	55	65	SUCCESS
EP400	57634	.	GRCh37	12	132471242	132471242	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779657584	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	39	0	ENST00000389561.2:c.2113C>T	p.Arg705Trp	p.R705W	ENST00000389561	NM_015409.4	705	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS31929.2	2113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCGGACC	NONE	byFrequency	.	hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	.	ENSP00000374212	.	6/53	.	.	.	.	.	.	.	.	rs779657584	6/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,missense_variant,p.Arg704Trp,ENST00000389562,;EP400,missense_variant,p.Arg668Trp,ENST00000332482,;EP400,missense_variant,p.Arg705Trp,ENST00000389561,;EP400,missense_variant,p.Arg741Trp,ENST00000333577,;EP400,missense_variant,p.Arg705Trp,ENST00000330386,;	2222	39	36	SUCCESS
BICD1	636	.	GRCh37	12	32369238	32369238	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	92	0	ENST00000281474.5:c.271G>T	p.Glu91Ter	p.E91*	ENST00000281474	NM_001714.2	91	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS8726.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGGAGGAA	NONE	.	.	Pfam_domain:PF09730,hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233	.	.	ENSP00000281474	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000281474	Transcript	.	.	ENSG00000151746	1049	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BICD1_HUMAN	BICD1	HGNC	.	.	UPI00001AEA67	SNV	BICD1,stop_gained,p.Glu91Ter,ENST00000281474,;BICD1,stop_gained,p.Glu91Ter,ENST00000548411,;BICD1,stop_gained,p.Glu91Ter,ENST00000395758,;	374	92	76	SUCCESS
IFNG	3458	.	GRCh37	12	68553297	68553297	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	117	0	ENST00000229135.3:c.99C>G	p.Asn33Lys	p.N33K	ENST00000229135	NM_000619.2	33	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS8980.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGGTTTTC	NONE	.	.	hmmpanther:PTHR11419,Pfam_domain:PF00714,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001936,Superfamily_domains:SSF47266	.	.	ENSP00000229135	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000229135	Transcript	.	.	ENSG00000111537	5438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(1)	.	IFNG_HUMAN	IFNG	HGNC	A1Z2M2_HUMAN	.	UPI000002C7C8	SNV	IFNG,missense_variant,p.Asn33Lys,ENST00000229135,;IFNG-AS1,intron_variant,,ENST00000536914,;	231	117	111	SUCCESS
C3AR1	719	.	GRCh37	12	8212610	8212610	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	83	0	ENST00000307637.4:c.172A>G	p.Thr58Ala	p.T58A	ENST00000307637	NM_004054.2	58	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8588.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTGTTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF4,hmmpanther:PTHR24225,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01060	.	.	ENSP00000302079	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307637	Transcript	.	.	ENSG00000171860	1319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	C3AR_HUMAN	C3AR1	HGNC	F5GZE6_HUMAN,A8K2H7_HUMAN	.	UPI0000001066	SNV	C3AR1,missense_variant,p.Thr58Ala,ENST00000307637,;C3AR1,missense_variant,p.Thr58Ala,ENST00000546241,;FOXJ2,downstream_gene_variant,,ENST00000162391,;	376	83	90	SUCCESS
CCDC168	643677	.	GRCh37	13	103385109	103385109	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	65	152	0	ENST00000322527.2:c.4051G>T	p.Glu1351Ter	p.E1351*	ENST00000322527	NM_001146197.1	1351	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	.	4051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCTTGCA	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,stop_gained,p.Glu1351Ter,ENST00000322527,;	4051	152	165	SUCCESS
MIS18BP1	55320	.	GRCh37	14	45700393	45700393	+	synonymous_variant	Silent	SNP	A	A	G	rs751222387	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	98	255	0	ENST00000310806.4:c.1545T>C	p.Asp515=	p.D515=	ENST00000310806	NM_018353.4	515	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS9684.1	1545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTATCTGT	NONE	.	.	hmmpanther:PTHR16124:SF1,hmmpanther:PTHR16124	.	.	ENSP00000309790	.	8/17	.	.	.	.	.	.	.	.	rs751222387	8/17	PASS	ENST00000310806	Transcript	.	.	ENSG00000129534	20190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M18BP_HUMAN	MIS18BP1	HGNC	C9J2Q8_HUMAN	.	UPI00001FD488	SNV	MIS18BP1,synonymous_variant,p.%3D,ENST00000310806,;MIS18BP1,3_prime_UTR_variant,,ENST00000454990,;MIS18BP1,3_prime_UTR_variant,,ENST00000453142,;MIS18BP1,non_coding_transcript_exon_variant,,ENST00000555653,;	2004	255	243	SUCCESS
NEK9	91754	.	GRCh37	14	75580093	75580093	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	28	93	0	ENST00000238616.5:c.887G>A	p.Arg296Lys	p.R296K	ENST00000238616	NM_033116.4	296	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS9839.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCTCTGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000238616	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	SNV	NEK9,missense_variant,p.Arg296Lys,ENST00000238616,;NEK9,downstream_gene_variant,,ENST00000557673,;NEK9,non_coding_transcript_exon_variant,,ENST00000557026,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,downstream_gene_variant,,ENST00000554258,;HIF1AP1,downstream_gene_variant,,ENST00000553642,;	1046	93	155	SUCCESS
NRXN3	9369	.	GRCh37	14	80328058	80328058	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	52	0	ENST00000557594.1:c.1665C>A	p.Ile555=	p.I555=	ENST00000557594		555	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9870.1	2937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATCCGGGA	NONE	.	.	hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127	.	.	ENSP00000451648	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,synonymous_variant,p.%3D,ENST00000554719,;NRXN3,synonymous_variant,p.%3D,ENST00000281127,;NRXN3,synonymous_variant,p.%3D,ENST00000557594,;NRXN3,synonymous_variant,p.%3D,ENST00000335750,;NRXN3,synonymous_variant,p.%3D,ENST00000428277,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556003,;NRXN3,3_prime_UTR_variant,,ENST00000555387,;NRXN3,3_prime_UTR_variant,,ENST00000554738,;	3428	52	57	SUCCESS
PLA2G4F	255189	.	GRCh37	15	42437866	42437866	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776310395	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	47	0	ENST00000397272.3:c.1693G>A	p.Ala565Thr	p.A565T	ENST00000397272	NM_213600.3	565	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32204.1	1687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGCGCTGC	NONE	byFrequency	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22,Gene3D:3.40.1090.10,Pfam_domain:PF01735,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000371833	.	16/20	.	.	.	.	.	.	.	.	rs776310395,COSM3420296	16/20	PASS	ENST00000382396	Transcript	.	.	ENSG00000168907	27396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	tolerated(0.07)	0,1	PA24F_HUMAN	PLA2G4F	HGNC	.	.	UPI0000160965	SNV	PLA2G4F,missense_variant,p.Ala565Thr,ENST00000397272,;PLA2G4F,missense_variant,p.Ala563Thr,ENST00000382396,;PLA2G4F,3_prime_UTR_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,downstream_gene_variant,,ENST00000561893,;PLA2G4F,upstream_gene_variant,,ENST00000562320,;PLA2G4F,downstream_gene_variant,,ENST00000561627,;	1774	47	54	SUCCESS
IL21R	50615	.	GRCh37	16	27460191	27460191	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	48	0	ENST00000337929.3:c.1204C>T	p.Leu402=	p.L402=	ENST00000337929	NM_181078.2	402	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10630.1	1204	RADIA|MUTECT|MUSE	.	CAGCCCTGGAC	NONE	.	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	.	.	ENSP00000338010	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000337929	Transcript	.	.	ENSG00000103522	6006	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,synonymous_variant,p.%3D,ENST00000395755,;IL21R,synonymous_variant,p.%3D,ENST00000564089,;IL21R,synonymous_variant,p.%3D,ENST00000395754,;IL21R,synonymous_variant,p.%3D,ENST00000337929,;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	1677	48	85	SUCCESS
IL21R	50615	.	GRCh37	16	27460214	27460214	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	45	0	ENST00000337929.3:c.1227G>T	p.Glu409Asp	p.E409D	ENST00000337929	NM_181078.2	409	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS10630.1	1227	RADIA|MUTECT|MUSE	.	CTGGAGCCCAG	NONE	.	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	.	.	ENSP00000338010	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000337929	Transcript	.	.	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.034)	.	tolerated(0.17)	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.Glu409Asp,ENST00000395755,;IL21R,missense_variant,p.Glu409Asp,ENST00000564089,;IL21R,missense_variant,p.Glu409Asp,ENST00000395754,;IL21R,missense_variant,p.Glu409Asp,ENST00000337929,;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	1700	45	77	SUCCESS
KIAA0556	0	.	GRCh37	16	27561479	27561479	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	39	0	ENST00000261588.4:c.-13G>A		p.*5*	ENST00000261588	NM_015202.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32415.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCGCCGCC	NONE	.	.	.	.	.	ENSP00000261588	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,5_prime_UTR_variant,,ENST00000261588,;GTF3C1,upstream_gene_variant,,ENST00000561623,;GTF3C1,upstream_gene_variant,,ENST00000356183,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000566023,;	7	39	64	SUCCESS
PYCARD	29108	.	GRCh37	16	31212988	31212988	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	29	0	ENST00000247470.9:c.506G>A	p.Trp169Ter	p.W169*	ENST00000247470	NM_013258.4	169	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS10708.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCAGGCT	NONE	.	.	PROSITE_profiles:PS50209,hmmpanther:PTHR10454,Pfam_domain:PF00619,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000247470	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000247470	Transcript	.	.	ENSG00000103490	16608	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASC_HUMAN	PYCARD	HGNC	.	.	UPI0000032BA7	SNV	PYCARD,stop_gained,p.Trp169Ter,ENST00000247470,;PYCARD,stop_gained,p.Trp150Ter,ENST00000350605,;C16orf98,upstream_gene_variant,,ENST00000561916,;PYCARD,downstream_gene_variant,,ENST00000561508,;RP11-388M20.1,downstream_gene_variant,,ENST00000565152,;PYCARD,non_coding_transcript_exon_variant,,ENST00000565022,;	808	29	25	SUCCESS
CDH5	1003	.	GRCh37	16	66434787	66434787	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	57	1	ENST00000341529.3:c.1705A>G	p.Ser569Gly	p.S569G	ENST00000341529	NM_001795.3	569	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS10804.1	1705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCAGCACG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF89,PROSITE_profiles:PS50268	.	.	ENSP00000344115	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000341529	Transcript	.	.	ENSG00000179776	1764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.17)	.	CADH5_HUMAN	CDH5	HGNC	Q59EA3_HUMAN,I3L1J2_HUMAN,H3BR64_HUMAN,H3BPG1_HUMAN,B4DTR2_HUMAN	.	UPI000016B272	SNV	CDH5,missense_variant,p.Ser8Gly,ENST00000539168,;CDH5,missense_variant,p.Ser569Gly,ENST00000341529,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	1853	58	51	SUCCESS
JMJD8	339123	.	GRCh37	16	733364	733364	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	50	75	0	ENST00000412368.2:c.532G>A	p.Gly178Ser	p.G178S	ENST00000412368	NM_001005920.2	178	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS45369.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCAAATG	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR12480,hmmpanther:PTHR12480:SF12,Pfam_domain:PF13621,Gene3D:1vrbA01,Superfamily_domains:SSF51197	.	.	ENSP00000399475	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000412368	Transcript	.	.	ENSG00000161999	14148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.74)	.	JMJD8_HUMAN	JMJD8	HGNC	.	.	UPI0000471011	SNV	JMJD8,missense_variant,p.Gly157Ser,ENST00000562111,;JMJD8,missense_variant,p.Gly127Ser,ENST00000562824,;JMJD8,missense_variant,p.Gly157Ser,ENST00000609261,;JMJD8,missense_variant,p.Gly197Ser,ENST00000454700,;JMJD8,missense_variant,p.Gly227Ser,ENST00000293882,;JMJD8,missense_variant,p.Gly178Ser,ENST00000412368,;STUB1,downstream_gene_variant,,ENST00000565677,;STUB1,downstream_gene_variant,,ENST00000567173,;WDR24,downstream_gene_variant,,ENST00000293883,;STUB1,downstream_gene_variant,,ENST00000219548,;STUB1,downstream_gene_variant,,ENST00000564316,;WDR24,downstream_gene_variant,,ENST00000248142,;STUB1,downstream_gene_variant,,ENST00000564370,;STUB1,downstream_gene_variant,,ENST00000566408,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,downstream_gene_variant,,ENST00000566181,;JMJD8,synonymous_variant,p.%3D,ENST00000565258,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000569396,;JMJD8,non_coding_transcript_exon_variant,,ENST00000563088,;JMJD8,non_coding_transcript_exon_variant,,ENST00000566199,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;JMJD8,non_coding_transcript_exon_variant,,ENST00000570037,;JMJD8,non_coding_transcript_exon_variant,,ENST00000569441,;JMJD8,non_coding_transcript_exon_variant,,ENST00000564436,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567901,;STUB1,downstream_gene_variant,,ENST00000569248,;STUB1,downstream_gene_variant,,ENST00000565813,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,upstream_gene_variant,,ENST00000568313,;WDR24,downstream_gene_variant,,ENST00000567014,;STUB1,downstream_gene_variant,,ENST00000567790,;	589	75	83	SUCCESS
TLDC1	0	.	GRCh37	16	84513531	84513531	+	synonymous_variant	Silent	SNP	C	C	T	rs368856164	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	73	0	ENST00000343629.6:c.1359G>A	p.Pro453=	p.P453=	ENST00000343629	NM_020947.3	453	ccG/ccA	0	T:0	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS32498.1	1359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCCGGGAC	NONE	byCluster|by1000G	.	.	T:0.001	T:0.0001	ENSP00000343635	T:0	8/8	.	.	.	.	.	.	.	.	rs368856164	8/8	common_in_exac	ENST00000343629	Transcript	.	T:0.0002	ENSG00000140950	29325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TLDC1_HUMAN	TLDC1	HGNC	H3BUB0_HUMAN,H3BTC5_HUMAN,H3BQ13_HUMAN,B4DM09_HUMAN	.	UPI00001BBB2E	SNV	TLDC1,synonymous_variant,p.%3D,ENST00000343629,;TLDC1,synonymous_variant,p.%3D,ENST00000535580,;TLDC1,3_prime_UTR_variant,,ENST00000570036,;TLDC1,3_prime_UTR_variant,,ENST00000566995,;	1542	73	75	SUCCESS
RASD1	51655	.	GRCh37	17	17398678	17398678	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	13	19	0	ENST00000225688.3:c.607C>T	p.Pro203Ser	p.P203S	ENST00000225688	NM_016084.4	203	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11185.1	607	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGGCTCA	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF240,SMART_domains:SM00176,Superfamily_domains:SSF52540	.	.	ENSP00000225688	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000225688	Transcript	.	.	ENSG00000108551	15828	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RASD1_HUMAN	RASD1	HGNC	Q9HC43_HUMAN	.	UPI0000072DA1	SNV	RASD1,missense_variant,p.Pro203Ser,ENST00000225688,;RASD1,3_prime_UTR_variant,,ENST00000579152,;MED9,downstream_gene_variant,,ENST00000268711,;MED9,downstream_gene_variant,,ENST00000581315,;	819	19	15	SUCCESS
DUSP14	11072	.	GRCh37	17	35872856	35872856	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	35	0	ENST00000487847.1:c.482A>G	p.Tyr161Cys	p.Y161C	ENST00000487847		161	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11320.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTACGAGC	NONE	.	.	Superfamily_domains:SSF52799,SMART_domains:SM00195,Gene3D:3.90.190.10,Pfam_domain:PF00782,hmmpanther:PTHR10159:SF117,hmmpanther:PTHR10159,PROSITE_profiles:PS50054	.	.	ENSP00000466299	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000487847	Transcript	.	.	ENSG00000161326	17007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DUS14_HUMAN	DUSP14	HGNC	Q6FI36_HUMAN	.	UPI0000129965	SNV	DUSP14,missense_variant,p.Tyr161Cys,ENST00000394386,;DUSP14,missense_variant,p.Tyr161Cys,ENST00000394389,;DUSP14,missense_variant,p.Tyr161Cys,ENST00000487847,;SYNRG,downstream_gene_variant,,ENST00000339208,;SYNRG,downstream_gene_variant,,ENST00000346661,;SYNRG,downstream_gene_variant,,ENST00000590102,;	1460	35	31	SUCCESS
GAST	2520	.	GRCh37	17	39872101	39872101	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868921087	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	60	0	ENST00000329402.3:c.283C>T	p.Arg95Cys	p.R95C	ENST00000329402	NM_000805.4	95	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11404.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCGCAGT	NONE	.	.	hmmpanther:PTHR19309:SF0,hmmpanther:PTHR19309,Pfam_domain:PF00918,SMART_domains:SM00029	.	.	ENSP00000331358	.	3/3	.	.	.	.	.	.	.	.	COSM472788	3/3	PASS	ENST00000329402	Transcript	.	.	ENSG00000184502	4164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.965)	.	deleterious_low_confidence(0)	1	GAST_HUMAN	GAST	HGNC	.	.	UPI000012B0F4	SNV	GAST,missense_variant,p.Arg95Cys,ENST00000329402,;JUP,intron_variant,,ENST00000540235,;HAP1,downstream_gene_variant,,ENST00000442364,;HAP1,downstream_gene_variant,,ENST00000455021,;HAP1,downstream_gene_variant,,ENST00000393939,;HAP1,downstream_gene_variant,,ENST00000458656,;RNA5SP442,upstream_gene_variant,,ENST00000365050,;	350	60	54	SUCCESS
ZNF385C	201181	.	GRCh37	17	40179065	40179065	+	synonymous_variant	Silent	SNP	G	G	T	rs71373480	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	78	0	ENST00000436535.3:c.1350C>A	p.Ile450=	p.I450=	ENST00000436535		450	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	.	1350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGATGGC	NONE	.	.	hmmpanther:PTHR23067:SF6,hmmpanther:PTHR23067	.	.	ENSP00000411514	.	8/8	.	.	.	.	.	.	.	.	rs71373480	8/8	PASS	ENST00000436535	Transcript	.	.	ENSG00000187595	33722	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF385C	HGNC	C9J6X6_HUMAN	.	UPI000198C823	SNV	ZNF385C,synonymous_variant,p.%3D,ENST00000436535,;NKIRAS2,downstream_gene_variant,,ENST00000393880,;NKIRAS2,downstream_gene_variant,,ENST00000462043,;NKIRAS2,downstream_gene_variant,,ENST00000307641,;NKIRAS2,downstream_gene_variant,,ENST00000585955,;NKIRAS2,downstream_gene_variant,,ENST00000393885,;NKIRAS2,downstream_gene_variant,,ENST00000393884,;NKIRAS2,downstream_gene_variant,,ENST00000393881,;NKIRAS2,downstream_gene_variant,,ENST00000316082,;NKIRAS2,downstream_gene_variant,,ENST00000479407,;NKIRAS2,downstream_gene_variant,,ENST00000587337,;NKIRAS2,downstream_gene_variant,,ENST00000449471,;ZNF385C,non_coding_transcript_exon_variant,,ENST00000461831,;ZNF385C,non_coding_transcript_exon_variant,,ENST00000496039,;NKIRAS2,downstream_gene_variant,,ENST00000491638,;NKIRAS2,downstream_gene_variant,,ENST00000393879,;NKIRAS2,downstream_gene_variant,,ENST00000485789,;	1351	78	87	SUCCESS
TMEM100	55273	.	GRCh37	17	53798239	53798239	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	78	0	ENST00000424486.2:c.193T>C	p.Phe65Leu	p.F65L	ENST00000424486	NM_018286.2	65	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS11587.1	193	MUTECT|MUSE	.	GATGAAGACAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16100,hmmpanther:PTHR16100:SF2,Pfam_domain:PF15099	.	.	ENSP00000465638	.	4/4	.	.	.	.	.	.	.	.	COSM330350	4/4	PASS	ENST00000575734	Transcript	.	.	ENSG00000166292	25607	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.001)	.	tolerated(1)	1	TM100_HUMAN	TMEM100	HGNC	.	.	UPI000004A0C2	SNV	TMEM100,missense_variant,p.Phe65Leu,ENST00000575734,;TMEM100,missense_variant,p.Phe65Leu,ENST00000571679,;TMEM100,missense_variant,p.Phe65Leu,ENST00000424486,;TMEM100,downstream_gene_variant,,ENST00000570586,;TMEM100,downstream_gene_variant,,ENST00000575685,;TMEM100,downstream_gene_variant,,ENST00000575806,;	1002	78	69	SUCCESS
DNAH17	8632	.	GRCh37	17	76462860	76462860	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	34	0	ENST00000389840.5:c.8775G>T	p.Arg2925=	p.R2925=	ENST00000389840		2925	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	.	8775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTACCCGCAG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,Superfamily_domains:SSF52540	.	.	ENSP00000374490	.	56/81	.	.	.	.	.	.	.	.	.	56/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,synonymous_variant,p.%3D,ENST00000591369,;	8900	34	38	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14851780	14851780	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	194	7	176	0	ENST00000358984.4:c.3480T>C	p.Ser1160=	p.S1160=	ENST00000358984	NM_001145029.1	1160	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS54182.1	3480	MUTECT|MUSE	.	ACTTCTAAATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915	.	.	ENSP00000351875	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,synonymous_variant,p.%3D,ENST00000358984,;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	3660	176	201	SUCCESS
TSHZ1	10194	.	GRCh37	18	72998476	72998476	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs574385316	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	74	0	ENST00000580243.1:c.1114G>A	p.Ala372Thr	p.A372T	ENST00000580243		372	Gca/Aca	0	.	A:0	.	A:0.0014	.	A	A/T	protein_coding	YES	CCDS12009.1	979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGCAGAG	NONE	by1000G	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF6	A:0	.	ENSP00000323584	A:0	2/2	.	.	.	.	.	.	.	.	rs574385316	2/2	PASS	ENST00000322038	Transcript	.	A:0.0002	ENSG00000179981	10669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	tolerated(0.95)	.	TSH1_HUMAN	TSHZ1	HGNC	H0YN23_HUMAN,H0YKA1_HUMAN,A7YF73_HUMAN	.	UPI000021BFB5	SNV	TSHZ1,missense_variant,p.Ala372Thr,ENST00000580243,;TSHZ1,missense_variant,p.Ala327Thr,ENST00000322038,;TSHZ1,downstream_gene_variant,,ENST00000560661,;TSHZ1,downstream_gene_variant,,ENST00000560918,;TSHZ1,non_coding_transcript_exon_variant,,ENST00000584217,;	1563	74	76	SUCCESS
CEACAM6	4680	.	GRCh37	19	42266039	42266039	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	54	131	0	ENST00000199764.6:c.866T>C	p.Ile289Thr	p.I289T	ENST00000199764	NM_002483.4	289	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS12585.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATCACTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF121,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000199764	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000199764	Transcript	.	.	ENSG00000086548	1818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	CEAM6_HUMAN	CEACAM6	HGNC	Q13985_HUMAN,M0QYD3_HUMAN	.	UPI000006DF42	SNV	CEACAM6,missense_variant,p.Ile289Thr,ENST00000199764,;CEA,downstream_gene_variant,,ENST00000598976,;AC011513.4,intron_variant,,ENST00000601409,;	1084	131	145	SUCCESS
CARD8	22900	.	GRCh37	19	48718639	48718639	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs767149939	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	69	0	ENST00000391898.3:c.1306G>T	p.Asp436Tyr	p.D436Y	ENST00000391898	NM_001184900.1	436	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54289.1	1306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCCACTA	NONE	.	.	hmmpanther:PTHR24106:SF65,hmmpanther:PTHR24106,Pfam_domain:PF13553	.	.	ENSP00000375767	.	10/11	.	.	.	.	.	.	.	.	rs767149939	10/11	PASS	ENST00000391898	Transcript	.	.	ENSG00000105483	17057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CARD8_HUMAN	CARD8	HGNC	E5RGG3_HUMAN,E5RFV9_HUMAN	.	UPI000022A913	SNV	CARD8,missense_variant,p.Asp161Tyr,ENST00000357778,;CARD8,missense_variant,p.Asp436Tyr,ENST00000519940,;CARD8,missense_variant,p.Trp388Cys,ENST00000520015,;CARD8,missense_variant,p.Asp330Tyr,ENST00000359009,;CARD8,missense_variant,p.Asp436Tyr,ENST00000391898,;CARD8,missense_variant,p.Asp386Tyr,ENST00000447740,;CARD8,missense_variant,p.Asp386Tyr,ENST00000520153,;CARD8,missense_variant,p.Trp388Cys,ENST00000520753,;CARD8,missense_variant,p.Asp386Tyr,ENST00000521613,;ZNF114,intron_variant,,ENST00000597695,;CTC-453G23.8,downstream_gene_variant,,ENST00000595201,;CARD8,missense_variant,p.Asp30Tyr,ENST00000518450,;CARD8,splice_region_variant,,ENST00000518979,;CARD8,splice_region_variant,,ENST00000377461,;CARD8,splice_region_variant,,ENST00000517510,;CARD8,splice_region_variant,,ENST00000519302,;CARD8,splice_region_variant,,ENST00000523668,;CARD8,splice_region_variant,,ENST00000522051,;CARD8,splice_region_variant,,ENST00000518622,;CARD8,splice_region_variant,,ENST00000519646,;CARD8,splice_region_variant,,ENST00000523579,;CARD8,splice_region_variant,,ENST00000522773,;CARD8,splice_region_variant,,ENST00000521415,;	1349	69	67	SUCCESS
ZNF534	147658	.	GRCh37	19	52938382	52938382	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	139	0	ENST00000332323.6:c.230G>A	p.Arg77Lys	p.R77K	ENST00000332323	NM_001143939.1	77	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS46165.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGAGATC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,SMART_domains:SM00349	.	.	ENSP00000327538	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000332323	Transcript	.	.	ENSG00000198633	26337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	ZN534_HUMAN	ZNF534	HGNC	.	.	UPI0000351984	SNV	ZNF534,missense_variant,p.Arg77Lys,ENST00000332323,;ZNF534,missense_variant,p.Arg64Lys,ENST00000433050,;ZNF534,missense_variant,p.Arg64Lys,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,;	291	139	101	SUCCESS
ZNF132	7691	.	GRCh37	19	58944869	58944870	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	64	0	ENST00000254166.3:c.1941_1942del	p.Arg647SerfsTer9	p.R647Sfs*9	ENST00000254166	NM_003433.3	647	agAGtt/agtt	0	.	.	.	.	.	-	RV/SX	protein_coding	YES	CCDS12980.1	1941-1942	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGAACTCTCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF219,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000254166	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254166	Transcript	.	.	ENSG00000131849	12916	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN132_HUMAN	ZNF132	HGNC	.	.	UPI0000366EAB	deletion	ZNF132,frameshift_variant,p.Arg647SerfsTer9,ENST00000254166,;CTD-2619J13.17,upstream_gene_variant,,ENST00000594816,;ZNF132,non_coding_transcript_exon_variant,,ENST00000599148,;	2342-2343	64	82	SUCCESS
MISP	126353	.	GRCh37	19	758170	758170	+	synonymous_variant	Silent	SNP	C	C	T	rs530131211	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	35	0	ENST00000215582.6:c.1224C>T	p.Ala408=	p.A408=	ENST00000215582	NM_173481.2	408	gcC/gcT	0	.	T:0.0008	.	T:0	.	T	A	protein_coding	YES	CCDS12042.1	1224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCGACCC	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	T:0	.	ENSP00000215582	T:0	2/5	.	.	.	.	.	.	.	.	rs530131211	2/5	PASS	ENST00000215582	Transcript	.	T:0.0002	ENSG00000099812	27000	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,synonymous_variant,p.%3D,ENST00000215582,;	1327	35	44	SUCCESS
KCNA2	3737	.	GRCh37	1	111147255	111147255	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	44	101	0	ENST00000316361.4:c.150C>A	p.Thr50=	p.T50=	ENST00000316361	NM_004974.3	50	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS827.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAAGGTCTT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF02214,Gene3D:3.30.710.10,hmmpanther:PTHR11537:SF23,hmmpanther:PTHR11537	.	.	ENSP00000433109	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000485317	Transcript	.	.	ENSG00000177301	6220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA2_HUMAN	KCNA2	HGNC	.	.	UPI00001279A1	SNV	KCNA2,synonymous_variant,p.%3D,ENST00000440270,;KCNA2,synonymous_variant,p.%3D,ENST00000485317,;KCNA2,synonymous_variant,p.%3D,ENST00000316361,;KCNA2,synonymous_variant,p.%3D,ENST00000369770,;KCNA2,intron_variant,,ENST00000525120,;	824	101	98	SUCCESS
MXRA8	54587	.	GRCh37	1	1289853	1289853	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1409788364	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	30	0	ENST00000309212.6:c.986T>C	p.Val329Ala	p.V329A	ENST00000309212	NM_032348.2	329	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS24.1	986	RADIA|MUSE	.	CGATGACATTG	NONE	.	.	hmmpanther:PTHR12231:SF30,hmmpanther:PTHR12231	.	.	ENSP00000307887	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000309212	Transcript	.	.	ENSG00000162576	7542	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.183)	.	deleterious(0)	.	MXRA8_HUMAN	MXRA8	HGNC	.	.	UPI000003ED26	SNV	MXRA8,missense_variant,p.Val228Ala,ENST00000342753,;MXRA8,missense_variant,p.Val329Ala,ENST00000445648,;MXRA8,missense_variant,p.Val320Ala,ENST00000477278,;MXRA8,missense_variant,p.Val329Ala,ENST00000309212,;MXRA8,non_coding_transcript_exon_variant,,ENST00000473097,;MXRA8,non_coding_transcript_exon_variant,,ENST00000476718,;MXRA8,downstream_gene_variant,,ENST00000464351,;MXRA8,upstream_gene_variant,,ENST00000474033,;MXRA8,downstream_gene_variant,,ENST00000460473,;MXRA8,upstream_gene_variant,,ENST00000478517,;	1017	30	28	SUCCESS
MRPL20	55052	.	GRCh37	1	1342350	1342350	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	27	0	ENST00000344843.7:c.137T>C	p.Val46Ala	p.V46A	ENST00000344843	NM_017971.3	46	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS26.1	137	RADIA|MUSE	.	GAATCACGGTT	NONE	.	.	hmmpanther:PTHR10986,TIGRFAM_domain:TIGR01032,Pfam_domain:PF00453,Superfamily_domains:SSF74731,Prints_domain:PR00062	.	.	ENSP00000341082	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000344843	Transcript	.	.	ENSG00000242485	14478	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.64)	.	deleterious(0.04)	.	RM20_HUMAN	MRPL20	HGNC	.	.	UPI000006F0A8	SNV	MRPL20,missense_variant,p.Val46Ala,ENST00000482352,;MRPL20,missense_variant,p.Val10Ala,ENST00000492508,;MRPL20,missense_variant,p.Val46Ala,ENST00000344843,;RP4-758J18.2,downstream_gene_variant,,ENST00000444362,;RP4-758J18.13,upstream_gene_variant,,ENST00000607307,;RN7SL657P,upstream_gene_variant,,ENST00000582431,;MRPL20,non_coding_transcript_exon_variant,,ENST00000477686,;MRPL20,upstream_gene_variant,,ENST00000493287,;RP4-758J18.2,downstream_gene_variant,,ENST00000453521,;MRPL20,non_coding_transcript_exon_variant,,ENST00000487659,;RP4-758J18.2,downstream_gene_variant,,ENST00000572242,;RP4-758J18.2,downstream_gene_variant,,ENST00000447725,;RP4-758J18.2,downstream_gene_variant,,ENST00000418833,;	233	27	26	SUCCESS
PRDM2	7799	.	GRCh37	1	14075915	14075915	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	14	0	ENST00000235372.7:c.444A>G	p.Ile148Met	p.I148M	ENST00000235372	NM_012231.4	148	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS150.1	444	RADIA|MUTECT	.	GAGATAGCAGC	NONE	.	.	PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000235372	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.762)	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,missense_variant,p.Ile148Met,ENST00000311066,;PRDM2,missense_variant,p.Ile139Met,ENST00000484063,;PRDM2,missense_variant,p.Ile148Met,ENST00000376048,;PRDM2,missense_variant,p.Ile148Met,ENST00000235372,;PRDM2,5_prime_UTR_variant,,ENST00000343137,;PRDM2,5_prime_UTR_variant,,ENST00000413440,;PRDM2,upstream_gene_variant,,ENST00000505823,;PRDM2,upstream_gene_variant,,ENST00000503842,;PRDM2,upstream_gene_variant,,ENST00000407521,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502724,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502727,;PRDM2,3_prime_UTR_variant,,ENST00000491134,;PRDM2,upstream_gene_variant,,ENST00000491815,;	1300	14	8	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144912287	144912287	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	39	129	0	ENST00000369354.3:c.1988C>T	p.Ala663Val	p.A663V	ENST00000369354		663	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS55627.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGCAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	15/44	.	.	.	.	.	.	.	.	.	15/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.05)	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.Ala450Val,ENST00000479408,;PDE4DIP,missense_variant,p.Ala663Val,ENST00000369354,;PDE4DIP,missense_variant,p.Ala663Val,ENST00000369349,;PDE4DIP,missense_variant,p.Ala800Val,ENST00000369359,;PDE4DIP,missense_variant,p.Ala826Val,ENST00000313431,;PDE4DIP,missense_variant,p.Ala800Val,ENST00000530740,;PDE4DIP,missense_variant,p.Ala729Val,ENST00000313382,;PDE4DIP,missense_variant,p.Ala663Val,ENST00000369356,;PDE4DIP,missense_variant,p.Ala826Val,ENST00000529945,;PDE4DIP,missense_variant,p.Ala663Val,ENST00000369351,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000533963,;PDE4DIP,upstream_gene_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,downstream_gene_variant,,ENST00000496263,;	2279	129	183	SUCCESS
MNDA	4332	.	GRCh37	1	158812126	158812126	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	63	129	0	ENST00000368141.4:c.183T>C	p.Cys61=	p.C61=	ENST00000368141	NM_002432.1	61	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS1177.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTCTAGA	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR12200:SF18,hmmpanther:PTHR12200,Pfam_domain:PF02758	.	.	ENSP00000357123	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,synonymous_variant,p.%3D,ENST00000368141,;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,non_coding_transcript_exon_variant,,ENST00000491210,;	444	129	149	SUCCESS
RSC1A1	6248	.	GRCh37	1	15986764	15986764	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757473323	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	61	125	0	ENST00000345034.1:c.401C>A	p.Ser134Tyr	p.S134Y	ENST00000345034	NM_006511.1	134	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS161.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCTGTCA	NONE	.	.	hmmpanther:PTHR15397:SF2,hmmpanther:PTHR15397	.	.	ENSP00000341963	.	1/1	.	.	.	.	.	.	.	.	rs757473323	1/1	PASS	ENST00000345034	Transcript	.	.	ENSG00000215695	10458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	RSCA1_HUMAN	RSC1A1	HGNC	.	.	UPI00000715AC	SNV	RSC1A1,missense_variant,p.Ser134Tyr,ENST00000345034,;DDI2,3_prime_UTR_variant,,ENST00000480945,;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,downstream_gene_variant,,ENST00000548451,;	401	125	126	SUCCESS
EMC1	23065	.	GRCh37	1	19568867	19568867	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	64	1	ENST00000477853.1:c.481C>G	p.Leu161Val	p.L161V	ENST00000477853	NM_001271427.1	161	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS190.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAGGTGCC	NONE	.	.	Superfamily_domains:SSF50998,Gene3D:2.140.10.10,Pfam_domain:PF13360,hmmpanther:PTHR21573,hmmpanther:PTHR21573:SF0	.	.	ENSP00000420608	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000477853	Transcript	.	.	ENSG00000127463	28957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.11)	.	EMC1_HUMAN	EMC1	HGNC	.	.	UPI0000070A23	SNV	EMC1,missense_variant,p.Leu139Val,ENST00000375208,;EMC1,missense_variant,p.Leu161Val,ENST00000375199,;EMC1,missense_variant,p.Leu161Val,ENST00000477853,;EMC1,downstream_gene_variant,,ENST00000356068,;RP1-43E13.2,downstream_gene_variant,,ENST00000437898,;EMC1,upstream_gene_variant,,ENST00000467423,;EMC1,downstream_gene_variant,,ENST00000488681,;EMC1,downstream_gene_variant,,ENST00000475079,;	524	65	54	SUCCESS
CRB1	23418	.	GRCh37	1	197446818	197446818	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs111761880	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	64	140	0	ENST00000367400.3:c.4030A>G	p.Ile1344Val	p.I1344V	ENST00000367400	NM_201253.2	1344	Att/Gtt	0	G:0.0007	.	.	.	.	G	I/V	protein_coding	YES	CCDS1390.1	4030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACATTTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24049	.	G:0	ENSP00000356370	.	12/12	.	.	.	.	.	.	.	.	rs111761880	12/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.56)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Ile1232Val,ENST00000367399,;CRB1,missense_variant,p.Ile1320Val,ENST00000535699,;CRB1,missense_variant,p.Ile808Val,ENST00000538660,;CRB1,missense_variant,p.Ile825Val,ENST00000544212,;CRB1,missense_variant,p.Ile1344Val,ENST00000367400,;CRB1,3_prime_UTR_variant,,ENST00000448952,;CRB1,3_prime_UTR_variant,,ENST00000484075,;	4165	140	139	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204394045	204394058	+	frameshift_variant	Frame_Shift_Del	DEL	GCTCTCGCAGGCGG	GCTCTCGCAGGCGG	-	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	GCTCTCGCAGGCGG	GCTCTCGCAGGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	74	0	ENST00000367187.3:c.4827_4840del	p.Arg1610GlyfsTer75	p.R1610Gfs*75	ENST00000367187	NM_002646.3	1609	atCCGCCTGCGAGAGCtg/attg	0	.	.	.	.	.	-	IRLREL/IX	protein_coding	YES	CCDS1446.1	4827-4840	INDELOCATOR|VARSCANI	.	GGTCCAGCTCTCGCAGGCGGATGTT	NONE	.	.	Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000356155	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	deletion	PIK3C2B,frameshift_variant,p.Arg1610GlyfsTer75,ENST00000367187,;PIK3C2B,frameshift_variant,p.Arg1582GlyfsTer75,ENST00000424712,;RP11-739N20.2,intron_variant,,ENST00000443515,;	5384-5397	74	73	SUCCESS
RYR2	6262	.	GRCh37	1	237758830	237758830	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	57	116	1	ENST00000366574.2:c.4469C>T	p.Ala1490Val	p.A1490V	ENST00000366574	NM_001035.2	1490	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS55691.1	4469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGCGGGTG	NONE	.	.	SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000355533	.	34/105	.	.	.	.	.	.	.	.	COSM352077,COSM145901,COSM3369627	34/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.12)	.	.	1,1,1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ala1474Val,ENST00000542537,;RYR2,missense_variant,p.Ala1490Val,ENST00000366574,;RYR2,missense_variant,p.Ala1488Val,ENST00000360064,;	4786	117	123	SUCCESS
FGGY	55277	.	GRCh37	1	60223627	60223627	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	60	0	ENST00000303721.7:c.1537G>T	p.Val513Phe	p.V513F	ENST00000303721	NM_018291.3	513	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS44155.1	1609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGTTGGG	NONE	.	.	hmmpanther:PTHR10196:SF10,hmmpanther:PTHR10196,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000360262	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000371218	Transcript	.	.	ENSG00000172456	25610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.564)	.	tolerated(0.11)	.	FGGY_HUMAN	FGGY	HGNC	J3QKV9_HUMAN,C9J015_HUMAN	.	UPI0000458AF6	SNV	FGGY,missense_variant,p.Val214Phe,ENST00000371210,;FGGY,missense_variant,p.Val537Phe,ENST00000371218,;FGGY,missense_variant,p.Val513Phe,ENST00000303721,;FGGY,missense_variant,p.Val425Phe,ENST00000371212,;RP4-782L23.2,intron_variant,,ENST00000443012,;FGGY,non_coding_transcript_exon_variant,,ENST00000476939,;FGGY,non_coding_transcript_exon_variant,,ENST00000471169,;FGGY,non_coding_transcript_exon_variant,,ENST00000493891,;FGGY,non_coding_transcript_exon_variant,,ENST00000472783,;FGGY,non_coding_transcript_exon_variant,,ENST00000480847,;	1793	60	67	SUCCESS
GNG12	55970	.	GRCh37	1	68171260	68171260	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	31	78	0	ENST00000370982.3:c.94-1G>C		p.X32_splice	ENST00000370982	NM_018841.5	32		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30749.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCTGACA	NONE	.	.	.	.	.	ENSP00000360021	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370982	Transcript	.	.	ENSG00000172380	19663	.	.	HIGH	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBG12_HUMAN	GNG12	HGNC	.	.	UPI000004247A	SNV	GNG12,splice_acceptor_variant,,ENST00000370982,;	.	78	139	SUCCESS
LRRC7	57554	.	GRCh37	1	70339281	70339281	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	44	0	ENST00000035383.5:c.533+35315G>A		p.*178*	ENST00000035383	NM_020794.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS645.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAGACTTT	NONE	.	.	.	.	.	ENSP00000035383	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODIFIER	5/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,3_prime_UTR_variant,,ENST00000370958,;LRRC7,intron_variant,,ENST00000415775,;LRRC7,intron_variant,,ENST00000035383,;LRRC7,intron_variant,,ENST00000310961,;	.	44	41	SUCCESS
LCA5L	150082	.	GRCh37	21	40794906	40794907	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1198290766	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	163	66	168	0	ENST00000288350.3:c.832dup	p.Ile278AsnfsTer16	p.I278Nfs*16	ENST00000288350		278	ata/aAta	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS13665.1	832-833	INDELOCATOR|VARSCANI	.	CCTGTATTTTT	NONE	.	.	Pfam_domain:PF15619,hmmpanther:PTHR16650:SF9,hmmpanther:PTHR16650	.	.	ENSP00000351008	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000358268	Transcript	.	.	ENSG00000157578	1255	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCA5L_HUMAN	LCA5L	HGNC	C9JYR0_HUMAN,C9JRD7_HUMAN,C9JIJ8_HUMAN,C9JFB6_HUMAN,C9J9Z3_HUMAN,C9J5D2_HUMAN,C9J293_HUMAN,C9J198_HUMAN	.	UPI00000015EE	insertion	LCA5L,frameshift_variant,p.Ile278AsnfsTer16,ENST00000288350,;LCA5L,frameshift_variant,p.Ile278AsnfsTer16,ENST00000358268,;LCA5L,frameshift_variant,p.Ile278AsnfsTer17,ENST00000485895,;LCA5L,frameshift_variant,p.Ile278AsnfsTer16,ENST00000380671,;LCA5L,downstream_gene_variant,,ENST00000418018,;LCA5L,non_coding_transcript_exon_variant,,ENST00000484878,;WRB,intron_variant,,ENST00000478273,;LCA5L,downstream_gene_variant,,ENST00000459939,;LCA5L,downstream_gene_variant,,ENST00000490184,;WRB,upstream_gene_variant,,ENST00000480690,;LCA5L,downstream_gene_variant,,ENST00000466954,;WRB,upstream_gene_variant,,ENST00000476914,;LCA5L,non_coding_transcript_exon_variant,,ENST00000491625,;	1361-1362	168	229	SUCCESS
SGSM1	129049	.	GRCh37	22	25275471	25275471	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	42	80	0	ENST00000400359.4:c.1638C>A	p.Ile546=	p.I546=	ENST00000400359	NM_133454.2	546	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS46674.1	1638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCCTCTC	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF187	.	.	ENSP00000383212	.	15/26	.	.	.	.	.	.	.	.	COSM3552714,COSM3552713	15/26	PASS	ENST00000400359	Transcript	.	.	ENSG00000167037	29410	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SGSM1_HUMAN	SGSM1	HGNC	.	.	UPI00006EB130	SNV	SGSM1,synonymous_variant,p.%3D,ENST00000400359,;SGSM1,synonymous_variant,p.%3D,ENST00000400358,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;	1645	80	88	SUCCESS
RGPD8	727851	.	GRCh37	2	113147588	113147588	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	465	37	517	0	ENST00000302558.3:c.2934T>G	p.Thr978=	p.T978=	ENST00000302558	NM_001164463.1	978	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS46394.1	2934	MUTECT|MUSE|VARSCANS	.	CCTGAAGTTGA	NONE	.	.	hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138	.	.	ENSP00000306637	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000302558	Transcript	.	.	ENSG00000169629	9849	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD8_HUMAN	RGPD8	HGNC	I1Z9D1_HUMAN,C9J1P2_HUMAN	.	UPI000013E7F5	SNV	RGPD8,synonymous_variant,p.%3D,ENST00000302558,;RGPD8,synonymous_variant,p.%3D,ENST00000409750,;RGPD8,downstream_gene_variant,,ENST00000330575,;RGPD8,downstream_gene_variant,,ENST00000522286,;	3126	517	502	SUCCESS
TTC21B-AS1	100506134	.	GRCh37	2	166806244	166806244	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	51	103	0	ENST00000440322.1:n.2103A>C		p.*701*	ENST00000440322				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33315.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAAATAAT	NONE	.	.	.	.	.	ENSP00000243344	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000243344	Transcript	.	.	ENSG00000123607	25660	.	.	MODIFIER	1/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TT21B_HUMAN	TTC21B	HGNC	B3KU32_HUMAN	.	UPI000020900A	SNV	TTC21B,intron_variant,,ENST00000243344,;TTC21B-AS1,non_coding_transcript_exon_variant,,ENST00000440322,;TTC21B-AS1,downstream_gene_variant,,ENST00000443032,;TTC21B,intron_variant,,ENST00000476227,;TTC21B,intron_variant,,ENST00000464374,;TTC21B-AS1,downstream_gene_variant,,ENST00000446624,;	.	103	92	SUCCESS
KCNS3	3790	.	GRCh37	2	18113077	18113077	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	58	137	0	ENST00000304101.4:c.802G>T	p.Ala268Ser	p.A268S	ENST00000304101	NM_002252.3	268	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1692.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATGCCACG	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000385968	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000403915	Transcript	.	.	ENSG00000170745	6302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	tolerated(0.07)	.	KCNS3_HUMAN	KCNS3	HGNC	C9J187_HUMAN	.	UPI000013E93A	SNV	KCNS3,missense_variant,p.Ala268Ser,ENST00000304101,;KCNS3,missense_variant,p.Ala268Ser,ENST00000403915,;KCNS3,downstream_gene_variant,,ENST00000419802,;KCNS3,intron_variant,,ENST00000465292,;	1253	137	149	SUCCESS
C2orf43	0	.	GRCh37	2	20939926	20939926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	103	106	0	ENST00000237822.3:c.508A>G	p.Met170Val	p.M170V	ENST00000237822	NM_021925.2	170	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS1702.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACATTCGTT	NONE	.	.	hmmpanther:PTHR13390:SF0,hmmpanther:PTHR13390,Pfam_domain:PF10230,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000237822	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000237822	Transcript	.	.	ENSG00000118961	26145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	deleterious(0.01)	.	CB043_HUMAN	C2orf43	HGNC	C9JHU6_HUMAN,B7ZA47_HUMAN,B4DU46_HUMAN	.	UPI0000071DAB	SNV	C2orf43,missense_variant,p.Met40Val,ENST00000403006,;C2orf43,missense_variant,p.Met170Val,ENST00000237822,;C2orf43,missense_variant,p.Met122Val,ENST00000435420,;C2orf43,missense_variant,p.Met170Val,ENST00000381090,;C2orf43,missense_variant,p.Met40Val,ENST00000432947,;C2orf43,missense_variant,p.Met122Val,ENST00000412261,;C2orf43,missense_variant,p.Met40Val,ENST00000541941,;C2orf43,intron_variant,,ENST00000440866,;C2orf43,upstream_gene_variant,,ENST00000470099,;	588	106	163	SUCCESS
APOB	338	.	GRCh37	2	21251347	21251347	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	82	0	ENST00000233242.1:c.1681G>T	p.Ala561Ser	p.A561S	ENST00000233242	NM_000384.2	561	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1703.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGCAGCCA	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642	.	.	ENSP00000233242	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Ala561Ser,ENST00000233242,;APOB,missense_variant,p.Ala561Ser,ENST00000399256,;	1809	82	78	SUCCESS
RUFY4	285180	.	GRCh37	2	218940360	218940360	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	72	74	0	ENST00000344321.7:c.1145C>T	p.Thr382Ile	p.T382I	ENST00000344321	NM_198483.3	382	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	.	1205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAACAAAGG	NONE	.	.	hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF13	.	.	ENSP00000363270	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000374155	Transcript	.	.	ENSG00000188282	24804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.09)	.	.	RUFY4	HGNC	C9J235_HUMAN	.	UPI000035E73D	SNV	RUFY4,missense_variant,p.Thr402Ile,ENST00000374155,;RUFY4,missense_variant,p.Thr382Ile,ENST00000344321,;RUFY4,3_prime_UTR_variant,,ENST00000441828,;RUFY4,non_coding_transcript_exon_variant,,ENST00000463872,;RUFY4,downstream_gene_variant,,ENST00000472496,;RUFY4,downstream_gene_variant,,ENST00000465568,;RUFY4,3_prime_UTR_variant,,ENST00000457754,;RUFY4,downstream_gene_variant,,ENST00000495721,;	1615	74	140	SUCCESS
ALK	238	.	GRCh37	2	29940532	29940532	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778129557	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	55	202	0	ENST00000389048.3:c.699G>T	p.Met233Ile	p.M233I	ENST00000389048	NM_004304.4	233	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33172.1	699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCATGTT	NONE	byFrequency	.	.	.	.	ENSP00000373700	.	2/29	.	.	.	.	.	.	.	.	rs778129557	2/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.46)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Met233Ile,ENST00000389048,;ALK,missense_variant,p.Met233Ile,ENST00000431873,;	1606	202	198	SUCCESS
DHX57	90957	.	GRCh37	2	39088480	39088480	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	G	G	A	rs1231718000	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	83	0	ENST00000457308.1:c.766C>T	p.Arg256Ter	p.R256*	ENST00000457308		256	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1800.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCGAATTT	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Pfam_domain:PF05773	.	.	ENSP00000295373	.	5/24	.	.	.	.	.	.	.	.	COSM3581509	5/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	SNV	DHX57,stop_gained,p.Arg358Ter,ENST00000295373,;DHX57,downstream_gene_variant,,ENST00000417233,;AC018693.6,upstream_gene_variant,,ENST00000442829,;DHX57,non_coding_transcript_exon_variant,,ENST00000479345,;DHX57,upstream_gene_variant,,ENST00000492042,;DHX57,stop_gained,p.Arg256Ter,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000474104,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;	1199	83	110	SUCCESS
SPTBN1	6711	.	GRCh37	2	54859819	54859819	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	53	93	0	ENST00000356805.4:c.3681T>C	p.Ala1227=	p.A1227=	ENST00000356805	NM_003128.2	1227	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS33198.1	3681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTGTGGT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	17/36	.	.	.	.	.	.	.	.	.	17/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,synonymous_variant,p.%3D,ENST00000333896,;SPTBN1,synonymous_variant,p.%3D,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000389980,;	3962	93	135	SUCCESS
MRPL53	116540	.	GRCh37	2	74699318	74699318	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	79	0	ENST00000258105.7:c.267C>G	p.Ala89=	p.A89=	ENST00000258105	NM_053050.4	89	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS1944.1	267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAAGGCGGT	NONE	.	.	.	.	.	ENSP00000258105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000258105	Transcript	.	.	ENSG00000204822	16684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM53_HUMAN	MRPL53	HGNC	.	.	UPI000006ED10	SNV	MRPL53,missense_variant,p.Leu52Val,ENST00000409710,;MRPL53,synonymous_variant,p.%3D,ENST00000258105,;CCDC142,downstream_gene_variant,,ENST00000393965,;CCDC142,downstream_gene_variant,,ENST00000290418,;CCDC142,3_prime_UTR_variant,,ENST00000454193,;MRPL53,non_coding_transcript_exon_variant,,ENST00000468875,;MRPL53,non_coding_transcript_exon_variant,,ENST00000467349,;CCDC142,downstream_gene_variant,,ENST00000497232,;CCDC142,downstream_gene_variant,,ENST00000473278,;CCDC142,downstream_gene_variant,,ENST00000486335,;	929	79	83	SUCCESS
M1AP	130951	.	GRCh37	2	74785860	74785860	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs956996083	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	57	110	0	ENST00000290536.5:c.1576G>A	p.Asp526Asn	p.D526N	ENST00000290536	NM_138804.4	526	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33229.1	1576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATCCTTCT	NONE	.	.	.	.	.	ENSP00000290536	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000290536	Transcript	.	.	ENSG00000159374	25183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.3)	.	M1AP_HUMAN	M1AP	HGNC	C9JPR9_HUMAN	.	UPI0000072570	SNV	M1AP,missense_variant,p.Asp526Asn,ENST00000290536,;M1AP,missense_variant,p.Asp522Asn,ENST00000536235,;M1AP,missense_variant,p.Asp522Asn,ENST00000409585,;M1AP,missense_variant,p.Asp175Asn,ENST00000358434,;LOXL3,upstream_gene_variant,,ENST00000413469,;DOK1,downstream_gene_variant,,ENST00000409429,;LOXL3,upstream_gene_variant,,ENST00000264094,;LOXL3,upstream_gene_variant,,ENST00000409986,;DOK1,downstream_gene_variant,,ENST00000340004,;DOK1,downstream_gene_variant,,ENST00000233668,;LOXL3,upstream_gene_variant,,ENST00000393937,;M1AP,non_coding_transcript_exon_variant,,ENST00000485997,;M1AP,non_coding_transcript_exon_variant,,ENST00000464686,;DOK1,downstream_gene_variant,,ENST00000488613,;DOK1,downstream_gene_variant,,ENST00000480318,;DOK1,downstream_gene_variant,,ENST00000489958,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,downstream_gene_variant,,ENST00000496966,;DOK1,downstream_gene_variant,,ENST00000429631,;DOK1,downstream_gene_variant,,ENST00000475191,;DOK1,downstream_gene_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000482206,;	1693	110	112	SUCCESS
ANKRD36BP2	645784	.	GRCh37	2	89103596	89103596	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	12	0	ENST00000393525.3:n.4070G>C		p.*1357*	ENST00000393525				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGATAGT	NONE	.	.	.	.	.	.	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000393525	Transcript	.	.	ENSG00000230006	33607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ANKRD36BP2	HGNC	.	.	.	SNV	ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393525,;ANKRD36BP2,intron_variant,,ENST00000393515,;ANKRD36BP2,intron_variant,,ENST00000454490,;ANKRD36BP2,intron_variant,,ENST00000575193,;	4070	12	15	SUCCESS
FAHD2A	51011	.	GRCh37	2	96076720	96076720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	53	126	0	ENST00000233379.4:c.631T>C	p.Phe211Leu	p.F211L	ENST00000233379	NM_016044.2	211	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2014.1	631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCTTCGAC	NONE	.	.	hmmpanther:PTHR11820:SF74,hmmpanther:PTHR11820,Gene3D:3.90.850.10,Pfam_domain:PF01557,Superfamily_domains:SSF56529	.	.	ENSP00000233379	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000233379	Transcript	.	.	ENSG00000115042	24252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.28)	.	FAH2A_HUMAN	FAHD2A	HGNC	C9JGM0_HUMAN,C9J5B6_HUMAN	.	UPI000006D4CC	SNV	FAHD2A,missense_variant,p.Phe211Leu,ENST00000233379,;FAHD2A,missense_variant,p.Phe211Leu,ENST00000447036,;FAHD2A,downstream_gene_variant,,ENST00000418606,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000470100,;FAHD2A,downstream_gene_variant,,ENST00000463940,;AC009238.6,downstream_gene_variant,,ENST00000512705,;	784	126	120	SUCCESS
NUDT16P1	0	.	GRCh37	3	131081026	131081026	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	20	0	ENST00000499077.2:n.182G>T		p.*61*	ENST00000499077				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	GATGCGCTTTG	NONE	.	.	.	.	.	.	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000499077	Transcript	.	.	ENSG00000246082	27189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NUDT16P1	HGNC	.	.	.	SNV	RP11-933H2.4,intron_variant,,ENST00000502521,;RP11-933H2.4,upstream_gene_variant,,ENST00000513905,;NUDT16P1,non_coding_transcript_exon_variant,,ENST00000499077,;NUDT16P1,non_coding_transcript_exon_variant,,ENST00000498923,;RP11-933H2.4,upstream_gene_variant,,ENST00000441345,;NUDT16P1,non_coding_transcript_exon_variant,,ENST00000513809,;	182	20	12	SUCCESS
EIF4A2	1974	.	GRCh37	3	186501388	186501389	+	5_prime_UTR_variant	5'UTR	INS	-	-	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	129	29	59	0	ENST00000323963.5:c.-7dup		p.*3*	ENST00000323963				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3282.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTGGTTTTT	NONE	.	.	.	.	.	ENSP00000326381	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	insertion	EIF4A2,5_prime_UTR_variant,,ENST00000445596,;EIF4A2,5_prime_UTR_variant,,ENST00000323963,;EIF4A2,5_prime_UTR_variant,,ENST00000356531,;EIF4A2,5_prime_UTR_variant,,ENST00000441007,;EIF4A2,5_prime_UTR_variant,,ENST00000440191,;EIF4A2,upstream_gene_variant,,ENST00000498746,;SNORA81,upstream_gene_variant,,ENST00000408493,;SNORA63,upstream_gene_variant,,ENST00000363548,;SNORD2,upstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;RP11-573D15.9,non_coding_transcript_exon_variant,,ENST00000577781,;EIF4A2,5_prime_UTR_variant,,ENST00000426808,;EIF4A2,5_prime_UTR_variant,,ENST00000443963,;EIF4A2,5_prime_UTR_variant,,ENST00000429589,;EIF4A2,5_prime_UTR_variant,,ENST00000425053,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465032,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465222,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000491473,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000495049,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465267,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000486805,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475653,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,upstream_gene_variant,,ENST00000497177,;EIF4A2,upstream_gene_variant,,ENST00000475409,;EIF4A2,upstream_gene_variant,,ENST00000468362,;EIF4A2,upstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,upstream_gene_variant,,ENST00000465792,;EIF4A2,upstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000492144,;EIF4A2,upstream_gene_variant,,ENST00000461021,;EIF4A2,upstream_gene_variant,,ENST00000494445,;	53-54	59	158	SUCCESS
NGLY1	55768	.	GRCh37	3	25805746	25805746	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	89	180	0	ENST00000280700.5:c.303T>A	p.Ile101=	p.I101=	ENST00000280700	NM_018297.3	101	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS33719.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGAATTTT	BUFFER|p.R102C|c.304C>T|3	.	.	hmmpanther:PTHR12143,hmmpanther:PTHR12143:SF19,Pfam_domain:PF09409,Superfamily_domains:0052385	.	.	ENSP00000280700	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000280700	Transcript	.	.	ENSG00000151092	17646	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGLY1_HUMAN	NGLY1	HGNC	C9JU75_HUMAN	.	UPI0000001239	SNV	NGLY1,synonymous_variant,p.%3D,ENST00000422724,;NGLY1,synonymous_variant,p.%3D,ENST00000280700,;NGLY1,synonymous_variant,p.%3D,ENST00000428257,;NGLY1,synonymous_variant,p.%3D,ENST00000427041,;NGLY1,synonymous_variant,p.%3D,ENST00000417874,;NGLY1,synonymous_variant,p.%3D,ENST00000396649,;NGLY1,synonymous_variant,p.%3D,ENST00000308710,;AC092798.1,downstream_gene_variant,,ENST00000577400,;NGLY1,non_coding_transcript_exon_variant,,ENST00000461491,;NGLY1,synonymous_variant,p.%3D,ENST00000280699,;NGLY1,non_coding_transcript_exon_variant,,ENST00000493324,;	464	180	209	SUCCESS
FLNB	2317	.	GRCh37	3	57994556	57994556	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755518501	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	40	60	0	ENST00000295956.4:c.265C>G	p.Arg89Gly	p.R89G	ENST00000295956	NM_001457.3	89	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS54599.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACCGTGAG	NONE	byFrequency	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000420213	.	1/47	.	.	.	.	.	.	.	.	rs755518501	1/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.02)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Arg89Gly,ENST00000429972,;FLNB,missense_variant,p.Arg89Gly,ENST00000295956,;FLNB,missense_variant,p.Arg89Gly,ENST00000348383,;FLNB,missense_variant,p.Arg89Gly,ENST00000358537,;FLNB,missense_variant,p.Arg89Gly,ENST00000490882,;FLNB,missense_variant,p.Arg89Gly,ENST00000357272,;	430	60	82	SUCCESS
LRIG1	26018	.	GRCh37	3	66502014	66502014	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149854215	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	54	0	ENST00000273261.3:c.334G>A	p.Ala112Thr	p.A112T	ENST00000273261	NM_015541.2	112	Gct/Act	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS33783.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCGCCCA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS51450	T:0.001	.	ENSP00000273261	T:0	3/19	.	.	.	.	.	.	.	.	rs149854215,COSM1425151	3/19	PASS	ENST00000273261	Transcript	.	T:0.0002	ENSG00000144749	17360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.007)	T:0	tolerated(0.5)	0,1	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,missense_variant,p.Ala112Thr,ENST00000383703,;LRIG1,missense_variant,p.Ala112Thr,ENST00000273261,;LRIG1,non_coding_transcript_exon_variant,,ENST00000475366,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495671,;LRIG1,non_coding_transcript_exon_variant,,ENST00000498287,;	859	54	55	SUCCESS
LMOD3	56203	.	GRCh37	3	69168641	69168641	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	135	0	ENST00000420581.2:c.865T>C	p.Leu289=	p.L289=	ENST00000420581	NM_198271.3	289	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS46862.1	865	MUTECT|MUSE	.	GGCTAAACTGA	NONE	.	.	hmmpanther:PTHR10901:SF3,hmmpanther:PTHR10901,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000414670	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000420581	Transcript	.	.	ENSG00000163380	6649	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMOD3_HUMAN	LMOD3	HGNC	.	.	UPI00001612AC	SNV	LMOD3,synonymous_variant,p.%3D,ENST00000489031,;LMOD3,synonymous_variant,p.%3D,ENST00000475434,;LMOD3,synonymous_variant,p.%3D,ENST00000420581,;	1045	135	122	SUCCESS
UBA6	55236	.	GRCh37	4	68539451	68539451	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	83	1	ENST00000322244.5:c.510C>G	p.Ile170Met	p.I170M	ENST00000322244	NM_018227.5	170	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3516.1	510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTGATCTT	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572	.	.	ENSP00000313454	.	7/33	.	.	.	.	.	.	.	.	.	7/33	PASS	ENST00000322244	Transcript	.	.	ENSG00000033178	25581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	deleterious(0)	.	UBA6_HUMAN	UBA6	HGNC	B3KSS1_HUMAN	.	UPI000004A4F7	SNV	UBA6,missense_variant,p.Ile170Met,ENST00000322244,;UBA6,missense_variant,p.Ile170Met,ENST00000420827,;UBA6,non_coding_transcript_exon_variant,,ENST00000429659,;UBA6,downstream_gene_variant,,ENST00000506571,;	570	84	79	SUCCESS
IDUA	3425	.	GRCh37	4	995816	995816	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	17	0	ENST00000247933.4:c.839C>T	p.Ala280Val	p.A280V	ENST00000247933	NM_000203.3	280	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3343.1	839	RADIA|MUSE	.	CGTCGCGCAGC	NONE	.	.	hmmpanther:PTHR12631:SF4,hmmpanther:PTHR12631,Gene3D:3.20.20.80,Pfam_domain:PF01229,Superfamily_domains:SSF51445	.	.	ENSP00000247933	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000247933	Transcript	1	.	ENSG00000127415	5391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(1)	.	IDUA_HUMAN	IDUA	HGNC	J9QQV7_HUMAN,D6REB5_HUMAN	.	UPI00004571D0	SNV	IDUA,missense_variant,p.Ala148Val,ENST00000514224,;IDUA,missense_variant,p.Ala280Val,ENST00000247933,;IDUA,missense_variant,p.Ala219Val,ENST00000514192,;IDUA,synonymous_variant,p.%3D,ENST00000453894,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,downstream_gene_variant,,ENST00000509948,;IDUA,downstream_gene_variant,,ENST00000502910,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,upstream_gene_variant,,ENST00000502829,;	927	17	13	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140745170	140745170	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1198770505	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	59	1	ENST00000518069.1:c.1273A>G	p.Met425Val	p.M425V	ENST00000518069	NM_018918.2	425	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS54925.1	1273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCATGGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.08)	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,missense_variant,p.Met425Val,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGB3,upstream_gene_variant,,ENST00000576222,;	1273	60	58	SUCCESS
SIMC1	375484	.	GRCh37	5	175717553	175717553	+	synonymous_variant	Silent	SNP	G	G	T	rs755439835	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	66	137	0	ENST00000443967.1:c.969G>T	p.Val323=	p.V323=	ENST00000443967		323	gtG/gtT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4398.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTGTTACA	NONE	byFrequency	.	.	.	.	ENSP00000342075	.	.	.	.	.	.	.	.	.	.	rs755439835	.	PASS	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,synonymous_variant,p.%3D,ENST00000443967,;SIMC1,synonymous_variant,p.%3D,ENST00000429602,;SIMC1,intron_variant,,ENST00000430704,;SIMC1,intron_variant,,ENST00000341199,;SIMC1,intron_variant,,ENST00000467472,;SIMC1,downstream_gene_variant,,ENST00000508769,;SIMC1,downstream_gene_variant,,ENST00000514128,;SIMC1,downstream_gene_variant,,ENST00000503595,;SIMC1,intron_variant,,ENST00000495423,;	.	137	155	SUCCESS
HTR1A	3350	.	GRCh37	5	63256470	63256470	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	51	93	1	ENST00000323865.3:c.1077G>A	p.Leu359=	p.L359=	ENST00000323865	NM_000524.3	359	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34168.1	1077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGCAGCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000316244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323865	Transcript	1	.	ENSG00000178394	5286	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT1A_HUMAN	HTR1A	HGNC	Q5ZGX3_HUMAN,D6RA34_HUMAN	.	UPI0000124F1A	SNV	HTR1A,synonymous_variant,p.%3D,ENST00000323865,;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	1311	94	104	SUCCESS
MIR583	693168	.	GRCh37	5	95414907	95414907	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs749248154	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	81	0	ENST00000384846.1:n.66C>T		p.*22*	ENST00000384846				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTACCTCTT	NONE	byFrequency	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs749248154	1/1	PASS	ENST00000384846	Transcript	.	.	ENSG00000207578	32839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR583	HGNC	.	.	.	SNV	MIR583,non_coding_transcript_exon_variant,,ENST00000384846,;RP11-254I22.1,intron_variant,,ENST00000507997,;CTD-2337A12.1,intron_variant,,ENST00000502645,;CTD-2337A12.1,intron_variant,,ENST00000511775,;	66	81	84	SUCCESS
SOGA3	387104	.	GRCh37	6	127796693	127796693	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	24	0	ENST00000481848.2:c.2478C>T	p.Gly826=	p.G826=	ENST00000481848		826	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43505.1	2478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGCCCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2	.	.	ENSP00000451768	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000556132	Transcript	.	.	ENSG00000214338	21494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA3_HUMAN	SOGA3	HGNC	A5PLQ8_HUMAN	.	UPI0000419273	SNV	SOGA3,synonymous_variant,p.%3D,ENST00000525778,;SOGA3,synonymous_variant,p.%3D,ENST00000556132,;SOGA3,synonymous_variant,p.%3D,ENST00000465909,;SOGA3,synonymous_variant,p.%3D,ENST00000368268,;SOGA3,non_coding_transcript_exon_variant,,ENST00000474293,;SOGA3,synonymous_variant,p.%3D,ENST00000473298,;SOGA3,synonymous_variant,p.%3D,ENST00000481848,;SOGA3,upstream_gene_variant,,ENST00000464495,;	3343	24	23	SUCCESS
E2F3	1871	.	GRCh37	6	20481646	20481646	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1480011422	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	82	0	ENST00000346618.3:c.715G>A	p.Val239Ile	p.V239I	ENST00000346618	NM_001949.4	239	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS4545.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACGTCCAA	NONE	.	.	Superfamily_domains:SSF46785,Gene3D:1.10.10.10,Pfam_domain:PF02319,hmmpanther:PTHR12081:SF36,hmmpanther:PTHR12081	.	.	ENSP00000262904	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000346618	Transcript	.	.	ENSG00000112242	3115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	E2F3_HUMAN	E2F3	HGNC	Q24JQ3_HUMAN	.	UPI0000129AC2	SNV	E2F3,missense_variant,p.Val108Ile,ENST00000535432,;E2F3,missense_variant,p.Val239Ile,ENST00000346618,;	781	82	87	SUCCESS
DPCR1	0	.	GRCh37	6	30918729	30918729	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	88	0	ENST00000462446.1:c.2488G>A	p.Ala830Thr	p.A830T	ENST00000462446		830	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4692.2	2488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGCCAAT	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.32)	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Ala830Thr,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	2516	88	99	SUCCESS
THSD7A	221981	.	GRCh37	7	11676308	11676308	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768533858	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	78	0	ENST00000423059.4:c.471G>C	p.Glu157Asp	p.E157D	ENST00000423059	NM_015204.2	157	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS47543.1	471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATCTCCCT	NONE	byFrequency	.	hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8	.	.	ENSP00000406482	.	2/28	.	.	.	.	.	.	.	.	rs768533858	2/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.28)	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,missense_variant,p.Glu157Asp,ENST00000423059,;THSD7A,non_coding_transcript_exon_variant,,ENST00000480061,;	723	78	97	SUCCESS
KEL	3792	.	GRCh37	7	142651031	142651031	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs191311545	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	28	34	0	ENST00000355265.2:c.937G>A	p.Ala313Thr	p.A313T	ENST00000355265	NM_000420.2	313	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS34766.1	937	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCGGGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	T:0.003	.	ENSP00000347409	T:0	9/19	.	.	.	.	.	.	.	.	rs191311545	9/19	PASS	ENST00000355265	Transcript	.	T:0.0006	ENSG00000197993	6308	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.323)	T:0	deleterious(0.03)	.	KELL_HUMAN	KEL	HGNC	Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN	.	UPI000000D923	SNV	KEL,missense_variant,p.Ala313Thr,ENST00000355265,;KEL,downstream_gene_variant,,ENST00000476829,;KEL,downstream_gene_variant,,ENST00000460479,;KEL,downstream_gene_variant,,ENST00000467543,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000494148,;	1412	34	51	SUCCESS
XPO7	23039	.	GRCh37	8	21856326	21856326	+	synonymous_variant	Silent	SNP	C	C	T	rs758679409	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	91	1	ENST00000252512.9:c.2406C>T	p.Thr802=	p.T802=	ENST00000252512	NM_015024.4	802	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47818.1	2406	MUTECT|VARSCANS	.	GAAACCAGCAA	NONE	.	.	hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7,Superfamily_domains:SSF48371	.	.	ENSP00000252512	.	22/28	.	.	.	.	.	.	.	.	rs758679409	22/28	PASS	ENST00000252512	Transcript	.	.	ENSG00000130227	14108	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XPO7_HUMAN	XPO7	HGNC	E5RIW1_HUMAN,B4DSP8_HUMAN	.	UPI0000134559	SNV	XPO7,synonymous_variant,p.%3D,ENST00000252512,;XPO7,synonymous_variant,p.%3D,ENST00000434536,;XPO7,synonymous_variant,p.%3D,ENST00000517551,;XPO7,synonymous_variant,p.%3D,ENST00000433566,;XPO7,upstream_gene_variant,,ENST00000522015,;	2506	92	41	SUCCESS
DDX31	64794	.	GRCh37	9	135507429	135507429	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	55	0	ENST00000372153.1:c.1805A>T	p.Gln602Leu	p.Q602L	ENST00000372153		602	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6951.1	1805	MUTECT|MUSE	.	TTACCTGAACA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF89,PROSITE_profiles:PS51194	.	.	ENSP00000361232	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000372159	Transcript	.	.	ENSG00000125485	16715	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DDX31_HUMAN	DDX31	HGNC	.	.	UPI00000736CA	SNV	DDX31,missense_variant,p.Gln602Leu,ENST00000372159,;DDX31,missense_variant,p.Gln473Leu,ENST00000438527,;DDX31,missense_variant,p.Gln602Leu,ENST00000372153,;	1957	55	58	SUCCESS
LINGO2	158038	.	GRCh37	9	27950509	27950509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	236	8	214	0	ENST00000308675.3:c.161G>T	p.Gly54Val	p.G54V	ENST00000308675		54	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS6524.1	161	MUTECT|MUSE	.	GAATGCCCTCT	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000369328	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000379992	Transcript	.	.	ENSG00000174482	21207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LIGO2_HUMAN	LINGO2	HGNC	.	.	UPI000004C7CD	SNV	LINGO2,missense_variant,p.Gly54Val,ENST00000308675,;LINGO2,missense_variant,p.Gly54Val,ENST00000379992,;	611	214	245	SUCCESS
SMARCA1	6594	.	GRCh37	X	128641995	128641995	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	194	129	340	1	ENST00000371122.4:c.889A>T	p.Lys297Ter	p.K297*	ENST00000371122	NM_003069.3	297	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS14612.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTTTTCTT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF602,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000360163	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000371122	Transcript	.	.	ENSG00000102038	11097	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMCA1_HUMAN	SMARCA1	HGNC	F6TQG2_HUMAN	.	UPI0000161FA6	SNV	SMARCA1,stop_gained,p.Lys297Ter,ENST00000371122,;SMARCA1,stop_gained,p.Lys297Ter,ENST00000371121,;SMARCA1,stop_gained,p.Lys297Ter,ENST00000371123,;SMARCA1,downstream_gene_variant,,ENST00000478420,;	1019	341	323	SUCCESS
ABLIM1	3983	.	GRCh37	10	116417799	116417799	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771927361	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	10	112	0	ENST00000277895.5:c.161G>A	p.Arg54His	p.R54H	ENST00000277895	NM_002313.5	54	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS7590.1	161	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACGCCTA	NONE	byFrequency	.	.	.	.	ENSP00000277895	.	1/23	.	.	.	.	.	.	.	.	rs771927361	1/23	PASS	ENST00000277895	Transcript	.	.	ENSG00000099204	78	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.01)	.	ABLM1_HUMAN	ABLIM1	HGNC	.	.	UPI0000418D06	SNV	ABLIM1,missense_variant,p.Arg54His,ENST00000277895,;ABLIM1,intron_variant,,ENST00000533213,;ABLIM1,intron_variant,,ENST00000369252,;snoU13,downstream_gene_variant,,ENST00000458910,;ABLIM1,intron_variant,,ENST00000392955,;ABLIM1,intron_variant,,ENST00000369256,;	259	112	88	SUCCESS
KNDC1	85442	.	GRCh37	10	135032389	135032389	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	46	0	ENST00000304613.3:c.4732C>T	p.Gln1578Ter	p.Q1578*	ENST00000304613		1578	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS7674.1	4732	RADIA|MUSE	.	ATGAGCAGAGA	NONE	.	.	Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS50009	.	.	ENSP00000304437	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,stop_gained,p.Gln1578Ter,ENST00000304613,;KNDC1,stop_gained,p.Gln1580Ter,ENST00000368572,;	4753	46	27	SUCCESS
CPEB3	22849	.	GRCh37	10	93902837	93902837	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773585852	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	63	0	ENST00000265997.4:c.1402G>A	p.Val468Ile	p.V468I	ENST00000265997	NM_014912.4	468	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31246.1	1402	RADIA|MUTECT|MUSE|VARSCANS	.	TACTACGAGAG	NONE	byFrequency	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR12566,hmmpanther:PTHR12566:SF7,PROSITE_profiles:PS50102	.	.	ENSP00000265997	.	6/10	.	.	.	.	.	.	.	.	rs773585852	6/10	PASS	ENST00000265997	Transcript	.	.	ENSG00000107864	21746	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.242)	.	tolerated(0.19)	.	CPEB3_HUMAN	CPEB3	HGNC	.	.	UPI000013F7DE	SNV	CPEB3,missense_variant,p.Val468Ile,ENST00000265997,;CPEB3,missense_variant,p.Val454Ile,ENST00000412050,;EIF4A1P8,downstream_gene_variant,,ENST00000394444,;	1575	63	42	SUCCESS
SERGEF	26297	.	GRCh37	11	18010209	18010209	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	9	115	0	ENST00000265965.5:c.779A>C	p.His260Pro	p.H260P	ENST00000265965	NM_012139.2	260	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS7828.1	779	RADIA|MUTECT|MUSE|VARSCANS	.	AACAATGTGCT	NONE	.	.	Superfamily_domains:SSF50985,Gene3D:2.130.10.30,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF7,PROSITE_profiles:PS50012	.	.	ENSP00000265965	.	8/11	.	.	.	.	.	.	.	.	COSM4165727	8/11	PASS	ENST00000265965	Transcript	.	.	ENSG00000129158	17499	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.002)	.	tolerated(0.24)	1	SRGEF_HUMAN	SERGEF	HGNC	E9PS70_HUMAN,E9PR50_HUMAN	.	UPI000007326C	SNV	SERGEF,missense_variant,p.His124Pro,ENST00000529151,;SERGEF,missense_variant,p.His146Pro,ENST00000530613,;SERGEF,missense_variant,p.His260Pro,ENST00000528200,;SERGEF,missense_variant,p.His33Pro,ENST00000533241,;SERGEF,missense_variant,p.His146Pro,ENST00000532265,;SERGEF,missense_variant,p.His146Pro,ENST00000529728,;SERGEF,missense_variant,p.His260Pro,ENST00000265965,;SERGEF,intron_variant,,ENST00000525920,;SERGEF,downstream_gene_variant,,ENST00000532389,;SERGEF,intron_variant,,ENST00000529440,;SERGEF,missense_variant,p.His260Pro,ENST00000525422,;SERGEF,missense_variant,p.His76Pro,ENST00000532546,;SERGEF,3_prime_UTR_variant,,ENST00000527494,;SERGEF,downstream_gene_variant,,ENST00000533328,;SERGEF,downstream_gene_variant,,ENST00000530925,;	931	115	66	SUCCESS
P2RX3	5024	.	GRCh37	11	57137453	57137453	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	50	0	ENST00000263314.2:c.1177T>C	p.Phe393Leu	p.F393L	ENST00000263314	NM_002559.3	393	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS7953.1	1177	MUTECT|MUSE	.	GGGCCTTCTCC	NONE	.	.	hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF8,Prints_domain:PR01310	.	.	ENSP00000263314	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000263314	Transcript	.	.	ENSG00000109991	8534	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.18)	.	P2RX3_HUMAN	P2RX3	HGNC	H0YDR6_HUMAN	.	UPI00000342EB	SNV	P2RX3,missense_variant,p.Phe393Leu,ENST00000263314,;	1211	50	44	SUCCESS
DPF2	5977	.	GRCh37	11	65111286	65111286	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs994854120	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	122	0	ENST00000528416.1:c.536G>A	p.Arg179His	p.R179H	ENST00000528416	NM_006268.4	179	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8100.1	536	MUTECT|MUSE	.	CAAGCGTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615:SF13,hmmpanther:PTHR10615	.	.	ENSP00000436901	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000528416	Transcript	.	.	ENSG00000133884	9964	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.789)	.	deleterious(0)	.	REQU_HUMAN	DPF2	HGNC	.	.	UPI000000D90F	SNV	DPF2,missense_variant,p.Arg179His,ENST00000252268,;DPF2,missense_variant,p.Arg179His,ENST00000528416,;DPF2,intron_variant,,ENST00000415073,;DPF2,upstream_gene_variant,,ENST00000531989,;DPF2,non_coding_transcript_exon_variant,,ENST00000530993,;DPF2,non_coding_transcript_exon_variant,,ENST00000532264,;DPF2,3_prime_UTR_variant,,ENST00000532102,;DPF2,non_coding_transcript_exon_variant,,ENST00000532492,;DPF2,non_coding_transcript_exon_variant,,ENST00000524666,;DPF2,non_coding_transcript_exon_variant,,ENST00000530973,;DPF2,upstream_gene_variant,,ENST00000532052,;DPF2,downstream_gene_variant,,ENST00000444314,;	669	122	84	SUCCESS
MYO1H	283446	.	GRCh37	12	109838904	109838904	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1369198344	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	78	0	ENST00000310903.5:c.529C>A	p.Pro177Thr	p.P177T	ENST00000310903		177	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS53826.1	529	RADIA|MUTECT|MUSE|VARSCANS	.	GCATTCCCGTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF353,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000439182	.	6/32	.	.	.	.	.	.	.	.	.	6/32	PASS	ENST00000310903	Transcript	.	.	ENSG00000174527	13879	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,missense_variant,p.Pro177Thr,ENST00000431443,;MYO1H,missense_variant,p.Pro177Thr,ENST00000310903,;MYO1H,upstream_gene_variant,,ENST00000542883,;	635	78	60	SUCCESS
PRMT8	56341	.	GRCh37	12	3600744	3600744	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	14	0	ENST00000382622.3:c.-48T>C		p.*16*	ENST00000382622	NM_019854.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8521.2	.	SOMATICSNIPER|MUSE	.	AGCTCTCTCTC	NONE	.	.	.	.	.	ENSP00000372067	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000382622	Transcript	.	.	ENSG00000111218	5188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANM8_HUMAN	PRMT8	HGNC	.	.	UPI00005B2E00	SNV	PRMT8,5_prime_UTR_variant,,ENST00000382622,;PRMT8,intron_variant,,ENST00000452611,;PRMT8,non_coding_transcript_exon_variant,,ENST00000543701,;	343	14	15	SUCCESS
IGHV7-81	28378	.	GRCh37	14	107282864	107282864	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	85	0	ENST00000390639.2:c.279C>T	p.Thr93=	p.T93=	ENST00000390639		93	acC/acT	0	.	.	.	.	.	A	T	IG_V_gene	YES	.	279	MUTECT|MUSE|VARSCANS	.	GCAGAGGTGTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF85,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375048	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390639	Transcript	.	.	ENSG00000211979	5669	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGHV7-81	HGNC	Q6PIL0_HUMAN	.	UPI000011AABF	SNV	IGHV7-81,synonymous_variant,p.%3D,ENST00000390639,;IGHVIII-82,downstream_gene_variant,,ENST00000522058,;IGHV4-80,upstream_gene_variant,,ENST00000522457,;	333	86	55	SUCCESS
FUT8	2530	.	GRCh37	14	66188664	66188665	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	85	8	108	0	ENST00000360689.5:c.1007_1008insA	p.Arg337ProfsTer44	p.R337Pfs*44	ENST00000360689	NM_178155.2	336	atc/atAc	0	.	.	.	.	.	A	I/IX	protein_coding	YES	CCDS9775.1	1007-1008	VARSCANI*|PINDEL	.	CTTGATCCGCC	NONE	.	.	PROSITE_profiles:PS51659,hmmpanther:PTHR13132,PIRSF_domain:PIRSF000472	.	.	ENSP00000353910	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000360689	Transcript	.	.	ENSG00000033170	4019	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT8_HUMAN	FUT8	HGNC	Q546E0_HUMAN,G3V5Z4_HUMAN,G3V5E3_HUMAN,G3V530_HUMAN,G3V509_HUMAN,G3V4A8_HUMAN	.	UPI000000DCC9	insertion	FUT8,frameshift_variant,p.Arg337ProfsTer44,ENST00000394585,;FUT8,frameshift_variant,p.Arg174ProfsTer44,ENST00000557164,;FUT8,frameshift_variant,p.Arg337ProfsTer44,ENST00000360689,;FUT8,frameshift_variant,p.Arg208ProfsTer44,ENST00000358307,;FUT8,frameshift_variant,p.Arg337ProfsTer44,ENST00000394586,;FUT8,intron_variant,,ENST00000417683,;FUT8,downstream_gene_variant,,ENST00000554765,;FUT8,downstream_gene_variant,,ENST00000557536,;FUT8,intron_variant,,ENST00000342677,;	2734-2735	108	93	SUCCESS
PARP16	54956	.	GRCh37	15	65563339	65563339	+	synonymous_variant	Silent	SNP	G	G	A	rs760479511	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	8	102	0	ENST00000261888.6:c.246C>T	p.Ala82=	p.A82=	ENST00000261888	NM_017851.4	82	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10204.1	246	MUTECT|MUSE|VARSCANS	.	TCCCAGGCCCG	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR21328	.	.	ENSP00000261888	.	2/6	.	.	.	.	.	.	.	.	rs760479511	2/6	PASS	ENST00000261888	Transcript	.	.	ENSG00000138617	26040	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAR16_HUMAN	PARP16	HGNC	.	.	UPI000035079D	SNV	PARP16,synonymous_variant,p.%3D,ENST00000261888,;PARP16,intron_variant,,ENST00000444347,;PARP16,non_coding_transcript_exon_variant,,ENST00000560149,;PARP16,non_coding_transcript_exon_variant,,ENST00000558873,;	692	102	84	SUCCESS
TSC2	7249	.	GRCh37	16	2130279	2130279	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	87	0	ENST00000219476.3:c.3511del	p.Ala1171LeufsTer20	p.A1171Lfs*20	ENST00000219476	NM_000548.3	1171	Gct/ct	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS10458.1	3511	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTCAGCTGGC	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	.	.	ENSP00000219476	.	30/42	.	.	.	.	.	.	.	.	.	30/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,frameshift_variant,p.Ala1091LeufsTer20,ENST00000439673,;TSC2,frameshift_variant,p.Ala1171LeufsTer20,ENST00000219476,;TSC2,frameshift_variant,p.Ala1128LeufsTer20,ENST00000353929,;TSC2,frameshift_variant,p.Ala1171LeufsTer20,ENST00000350773,;TSC2,frameshift_variant,p.Ala1138LeufsTer20,ENST00000568454,;TSC2,frameshift_variant,p.Ala1079LeufsTer20,ENST00000382538,;TSC2,frameshift_variant,p.Ala1127LeufsTer20,ENST00000401874,;TSC2,upstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000561695,;TSC2,upstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000471143,;TSC2,downstream_gene_variant,,ENST00000483020,;	4141	87	51	SUCCESS
ASGR2	433	.	GRCh37	17	7010457	7010457	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	75	0	ENST00000355035.5:c.525C>T	p.Thr175=	p.T175=	ENST00000355035		175	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS32544.1	525	MUTECT|MUSE	.	CAGCAGGTCCT	NONE	.	.	hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF201,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	.	.	ENSP00000370339	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000380952	Transcript	.	.	ENSG00000161944	743	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASGR2_HUMAN	ASGR2	HGNC	Q7Z4G9_HUMAN	.	UPI00002007B9	SNV	ASGR2,synonymous_variant,p.%3D,ENST00000446679,;ASGR2,synonymous_variant,p.%3D,ENST00000355035,;ASGR2,synonymous_variant,p.%3D,ENST00000380952,;ASGR2,synonymous_variant,p.%3D,ENST00000254850,;ASGR2,downstream_gene_variant,,ENST00000574868,;ASGR2,downstream_gene_variant,,ENST00000450034,;ASGR2,downstream_gene_variant,,ENST00000576487,;	790	75	70	SUCCESS
ZNF418	147686	.	GRCh37	19	58439199	58439199	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs750772996	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	346	12	426	0	ENST00000396147.1:c.350A>C	p.Asn117Thr	p.N117T	ENST00000396147	NM_133460.1	117	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS42642.1	350	MUTECT|MUSE	.	ATTTATTCCCC	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF192,Superfamily_domains:SSF57667	.	.	ENSP00000379451	.	4/6	.	.	.	.	.	.	.	.	rs750772996	4/6	PASS	ENST00000396147	Transcript	.	.	ENSG00000196724	20647	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	tolerated(0.1)	.	ZN418_HUMAN	ZNF418	HGNC	M0QX82_HUMAN	.	UPI000013B4C8	SNV	ZNF418,missense_variant,p.Asn138Thr,ENST00000425570,;ZNF418,missense_variant,p.Asn117Thr,ENST00000396147,;ZNF418,missense_variant,p.Asn117Thr,ENST00000595830,;ZNF418,missense_variant,p.Asn32Thr,ENST00000599852,;ZNF418,intron_variant,,ENST00000600989,;ZNF418,downstream_gene_variant,,ENST00000601593,;ZNF418,downstream_gene_variant,,ENST00000593296,;ZNF418,downstream_gene_variant,,ENST00000595569,;ZNF418,intron_variant,,ENST00000598213,;ZNF418,upstream_gene_variant,,ENST00000599086,;	642	426	358	SUCCESS
MBD3L2	125997	.	GRCh37	19	7051578	7051578	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	98	0	ENST00000381393.3:c.572A>T	p.Lys191Met	p.K191M	ENST00000381393	NM_144614.3	191	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS42483.1	572	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAAGGCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12396,Pfam_domain:PF14048	.	.	ENSP00000370800	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381393	Transcript	.	.	ENSG00000230522	18532	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.043)	.	tolerated(0.15)	.	MB3L2_HUMAN	MBD3L2	HGNC	.	.	UPI000059D64D	SNV	MBD3L2,missense_variant,p.Lys191Met,ENST00000381393,;MBD3L3,downstream_gene_variant,,ENST00000333843,;	625	98	81	SUCCESS
CLCC1	23155	.	GRCh37	1	109479980	109479980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	93	1	ENST00000356970.2:c.1102A>G	p.Ser368Gly	p.S368G	ENST00000356970		368	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS41362.1	1102	MUTECT|MUSE	.	TTCGCTCTCAG	NONE	.	.	Pfam_domain:PF05934	.	.	ENSP00000358988	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000369971	Transcript	.	.	ENSG00000121940	29675	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	deleterious(0.04)	.	CLCC1_HUMAN	CLCC1	HGNC	.	.	UPI0000073C42	SNV	CLCC1,missense_variant,p.Ser318Gly,ENST00000415331,;CLCC1,missense_variant,p.Ser247Gly,ENST00000302500,;CLCC1,missense_variant,p.Ser247Gly,ENST00000369969,;CLCC1,missense_variant,p.Ser368Gly,ENST00000369971,;CLCC1,missense_variant,p.Ser183Gly,ENST00000369968,;CLCC1,missense_variant,p.Ser183Gly,ENST00000348264,;CLCC1,missense_variant,p.Ser368Gly,ENST00000356970,;CLCC1,missense_variant,p.Ser318Gly,ENST00000369970,;AKNAD1,intron_variant,,ENST00000357393,;CLCC1,intron_variant,,ENST00000369976,;GPSM2,downstream_gene_variant,,ENST00000406462,;CLCC1,intron_variant,,ENST00000482889,;CLCC1,intron_variant,,ENST00000473062,;	1232	94	70	SUCCESS
SPRR1B	6699	.	GRCh37	1	153004891	153004891	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	5	128	0	ENST00000307098.4:c.70C>T	p.Pro24Ser	p.P24S	ENST00000307098	NM_003125.2	24	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS30863.1	70	MUTECT|MUSE	.	AACAGCCTTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF49,hmmpanther:PTHR23263,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000306461	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307098	Transcript	.	.	ENSG00000169469	11260	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,missense_variant,p.Pro24Ser,ENST00000307098,;SPRR1B,missense_variant,p.Pro24Ser,ENST00000392661,;	135	128	100	SUCCESS
CFHR1	3078	.	GRCh37	1	196800931	196800931	+	synonymous_variant	Silent	SNP	G	G	A	rs766719031	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	411	39	595	1	ENST00000320493.5:c.795G>A	p.Pro265=	p.P265=	ENST00000320493	NM_002113.2	265	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1386.1	795	MUTECT|MUSE|VARSCANS	.	GATCCGTGTGT	NONE	byFrequency	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF325,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000314299	.	6/6	.	.	.	.	.	.	.	.	rs766719031	6/6	PASS	ENST00000320493	Transcript	.	.	ENSG00000244414	4888	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHR1_HUMAN	CFHR1	HGNC	Q6LBM9_HUMAN	.	UPI000013CCFE	SNV	CFHR1,synonymous_variant,p.%3D,ENST00000367424,;CFHR1,synonymous_variant,p.%3D,ENST00000320493,;CFHR2,intron_variant,,ENST00000367421,;CFHR1,downstream_gene_variant,,ENST00000480960,;	883	596	451	SUCCESS
LBR	3930	.	GRCh37	1	225599103	225599103	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs977194928	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	15	197	0	ENST00000272163.4:c.1124A>G	p.Asn375Ser	p.N375S	ENST00000272163	NM_002296.3	375	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS1545.1	1124	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGTTTAAT	BUFFER|p.R377Q|c.1130G>A|4	.	.	Pfam_domain:PF01222,hmmpanther:PTHR21257,PROSITE_patterns:PS01017,hmmpanther:PTHR21257:SF32	.	.	ENSP00000339883	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	LBR,missense_variant,p.Asn375Ser,ENST00000338179,;LBR,missense_variant,p.Asn6Ser,ENST00000424022,;LBR,missense_variant,p.Asn375Ser,ENST00000272163,;AC092811.1,upstream_gene_variant,,ENST00000366845,;	1250	197	136	SUCCESS
C1orf177	0	.	GRCh37	1	55272679	55272679	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	94	0	ENST00000371273.3:c.115T>C	p.Ser39Pro	p.S39P	ENST00000371273	NM_001110533.1	39	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS44153.1	115	RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTCTGCT	NONE	.	.	.	.	.	ENSP00000360320	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000371273	Transcript	.	.	ENSG00000162398	26854	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	deleterious(0.04)	.	CA177_HUMAN	C1orf177	HGNC	.	.	UPI0000204405	SNV	C1orf177,missense_variant,p.Ser39Pro,ENST00000358193,;C1orf177,missense_variant,p.Ser39Pro,ENST00000371273,;	130	94	62	SUCCESS
C20orf96	140680	.	GRCh37	20	257508	257508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	107	0	ENST00000360321.2:c.838C>T	p.Pro280Ser	p.P280S	ENST00000360321	NM_153269.2	280	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12994.1	838	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGGACGCT	NONE	.	.	Pfam_domain:PF15397	.	.	ENSP00000353470	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000360321	Transcript	.	.	ENSG00000196476	16227	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.941)	.	deleterious(0.02)	.	CT096_HUMAN	C20orf96	HGNC	.	.	UPI00001285F1	SNV	C20orf96,missense_variant,p.Pro222Ser,ENST00000400269,;C20orf96,missense_variant,p.Pro280Ser,ENST00000360321,;C20orf96,missense_variant,p.Pro245Ser,ENST00000382369,;	977	107	67	SUCCESS
NF2	4771	.	GRCh37	22	30038257	30038258	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	A	.	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	88	0	ENST00000338641.4:c.431dup	p.Tyr144Ter	p.Y144*	ENST00000338641	NM_000268.3	144	tac/tAac	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS13861.1	430-431	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTTACGCC	CODON|p.V122_K149del|c.364_447del84|5,CODON|p.Y144fs*1|c.430_431insA|5,BUFFER|p.Y144*|c.432C>A|4,BUFFER|p.V146I|c.436G>A|3	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935,Prints_domain:PR00661	.	.	ENSP00000344666	.	4/16	.	.	.	.	.	.	.	.	CI983522,CI045510,COSM23847,COSM22291,COSM1685255	4/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,1,1,1	.	.	.	.	.	0,0,1,1,1	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	insertion	NF2,stop_gained,p.Tyr61Ter,ENST00000347330,;NF2,stop_gained,p.Tyr144Ter,ENST00000403435,;NF2,stop_gained,p.Tyr102Ter,ENST00000361676,;NF2,stop_gained,p.Tyr144Ter,ENST00000338641,;NF2,stop_gained,p.Tyr144Ter,ENST00000397789,;NF2,stop_gained,p.Tyr61Ter,ENST00000353887,;NF2,stop_gained,p.Tyr144Ter,ENST00000413209,;NF2,stop_gained,p.Tyr144Ter,ENST00000361166,;NF2,stop_gained,p.Tyr144Ter,ENST00000403999,;NF2,stop_gained,p.Tyr61Ter,ENST00000334961,;NF2,stop_gained,p.Tyr103Ter,ENST00000361452,;NF2,stop_gained,p.Tyr61Ter,ENST00000432151,;	871-872	88	66	SUCCESS
LRP2	4036	.	GRCh37	2	170062972	170062972	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	6	131	0	ENST00000263816.3:c.7258A>G	p.Thr2420Ala	p.T2420A	ENST00000263816	NM_004525.2	2420	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2232.1	7258	MUTECT|MUSE	.	GACAGTTCTTT	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	39/79	.	.	.	.	.	.	.	.	.	39/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Thr2420Ala,ENST00000263816,;	7544	131	115	SUCCESS
TTN	7273	.	GRCh37	2	179463630	179463630	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745914315	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	14	188	1	ENST00000591111.1:c.51884G>A	p.Arg17295Gln	p.R17295Q	ENST00000591111		17295	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS59435.1	56807	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCGGTTA	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	291/363	.	.	.	.	.	.	.	.	rs745914315	291/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg9996Gln,ENST00000359218,;TTN,missense_variant,p.Arg17295Gln,ENST00000591111,;TTN,missense_variant,p.Arg18936Gln,ENST00000589042,;TTN,missense_variant,p.Arg10063Gln,ENST00000342175,;TTN,missense_variant,p.Arg16368Gln,ENST00000342992,;TTN,missense_variant,p.Arg9871Gln,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,upstream_gene_variant,,ENST00000589487,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;	57032	189	124	SUCCESS
EPHA3	2042	.	GRCh37	3	89480486	89480486	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775319034	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	8	120	0	ENST00000336596.2:c.2323C>T	p.Pro775Ser	p.P775S	ENST00000336596	NM_005233.5	775	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2922.1	2323	MUTECT|MUSE|VARSCANS	.	ATGACCCAGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000337451	.	13/17	.	.	.	.	.	.	.	.	rs775319034,COSM377628	13/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.996)	.	tolerated(0.38)	0,1	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Pro775Ser,ENST00000494014,;EPHA3,missense_variant,p.Pro775Ser,ENST00000336596,;	2548	120	93	SUCCESS
TENM3	55714	.	GRCh37	4	183694627	183694627	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	20	269	0	ENST00000511685.1:c.4895A>G	p.Tyr1632Cys	p.Y1632C	ENST00000511685		1632	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS47165.1	4895	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTATGACA	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,TIGRFAM_domain:TIGR01643,Superfamily_domains:SSF50978	.	.	ENSP00000424226	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.827)	.	deleterious(0)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Tyr1632Cys,ENST00000511685,;TENM3,missense_variant,p.Tyr1632Cys,ENST00000406950,;RP11-18D7.2,intron_variant,,ENST00000513255,;	5018	269	188	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5209306	5209306	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs547851789	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	6	176	0	ENST00000274181.7:c.1552T>A	p.Cys518Ser	p.C518S	ENST00000274181	NM_139056.2	518	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS43299.1	1552	MUTECT|MUSE	.	CACAGTGCAAG	NONE	.	.	hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723	.	.	ENSP00000274181	.	10/23	.	.	.	.	.	.	.	.	rs547851789	10/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,missense_variant,p.Cys518Ser,ENST00000274181,;ADAMTS16,missense_variant,p.Cys518Ser,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	1690	176	114	SUCCESS
FAM184A	79632	.	GRCh37	6	119327610	119327610	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	112	0	ENST00000338891.7:c.1815+2T>C		p.X605_splice	ENST00000338891	NM_024581.4	605		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTACCTCC	NONE	.	.	.	.	.	ENSP00000342604	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	HIGH	7/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,splice_donor_variant,,ENST00000368475,;FAM184A,splice_donor_variant,,ENST00000352896,;FAM184A,splice_donor_variant,,ENST00000338891,;FAM184A,splice_donor_variant,,ENST00000522284,;FAM184A,splice_donor_variant,,ENST00000521531,;FAM184A,downstream_gene_variant,,ENST00000448815,;RP11-351A11.1,intron_variant,,ENST00000518570,;	.	112	75	SUCCESS
C6orf118	168090	.	GRCh37	6	165715587	165715587	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757541436	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	6	110	0	ENST00000230301.8:c.224C>T	p.Thr75Met	p.T75M	ENST00000230301	NM_144980.3	75	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS5288.1	224	MUTECT|MUSE|VARSCANS	.	AGATCGTCTCC	NONE	.	.	.	.	.	ENSP00000230301	.	2/9	.	.	.	.	.	.	.	.	rs757541436,COSM3735747	2/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.692)	.	deleterious(0.04)	0,1	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,missense_variant,p.Thr75Met,ENST00000230301,;C6orf118,5_prime_UTR_variant,,ENST00000543069,;	245	110	83	SUCCESS
STRIP2	57464	.	GRCh37	7	129110535	129110535	+	synonymous_variant	Silent	SNP	G	G	C	rs139413732	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	133	0	ENST00000249344.2:c.1923G>C	p.Pro641=	p.P641=	ENST00000249344	NM_020704.2	641	ccG/ccC	0	.	A:0	.	A:0	.	C	P	protein_coding	YES	CCDS34752.1	1923	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGGAGCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6,Pfam_domain:PF11882	A:0.002	.	ENSP00000249344	A:0	18/21	.	.	.	.	.	.	.	.	rs139413732	18/21	PASS	ENST00000249344	Transcript	.	A:0.0004	ENSG00000128578	22209	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	STRP2_HUMAN	STRIP2	HGNC	A4D1K4_HUMAN	.	UPI00001C1E68	SNV	STRIP2,synonymous_variant,p.%3D,ENST00000435494,;STRIP2,synonymous_variant,p.%3D,ENST00000249344,;	1963	133	92	SUCCESS
CARD9	64170	.	GRCh37	9	139265546	139265546	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	44	1	ENST00000371732.5:c.374A>G	p.Lys125Arg	p.K125R	ENST00000371732	NM_052813.4	125	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6997.1	374	MUTECT|MUSE	.	GCAGCTTCATG	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF3	.	.	ENSP00000360797	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000371732	Transcript	.	.	ENSG00000187796	16391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.147)	.	tolerated(0.33)	.	CARD9_HUMAN	CARD9	HGNC	.	.	UPI000013E4EB	SNV	CARD9,missense_variant,p.Lys125Arg,ENST00000315908,;CARD9,missense_variant,p.Lys125Arg,ENST00000371732,;CARD9,missense_variant,p.Lys125Arg,ENST00000371734,;SNAPC4,downstream_gene_variant,,ENST00000298532,;CARD9,upstream_gene_variant,,ENST00000460290,;CARD9,missense_variant,p.Lys125Arg,ENST00000489932,;CARD9,non_coding_transcript_exon_variant,,ENST00000556340,;CARD9,non_coding_transcript_exon_variant,,ENST00000481053,;CARD9,upstream_gene_variant,,ENST00000485975,;	540	45	40	SUCCESS
CER1	9350	.	GRCh37	9	14720318	14720318	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	98	1	ENST00000380911.3:c.574T>C	p.Ser192Pro	p.S192P	ENST00000380911	NM_005454.2	192	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS6476.1	574	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGACCCGC	NONE	.	.	PROSITE_profiles:PS01225,hmmpanther:PTHR15273,hmmpanther:PTHR15273:SF3,Pfam_domain:PF03045,SMART_domains:SM00041,PIRSF_domain:PIRSF027807	.	.	ENSP00000370297	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380911	Transcript	.	.	ENSG00000147869	1862	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	CER1_HUMAN	CER1	HGNC	.	.	UPI0000051056	SNV	CER1,missense_variant,p.Ser192Pro,ENST00000380911,;	619	99	77	SUCCESS
TAF1L	138474	.	GRCh37	9	32631815	32631815	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs967153095	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	25	292	1	ENST00000242310.4:c.3763C>T	p.Arg1255Trp	p.R1255W	ENST00000242310	NM_153809.2	1255	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS35003.1	3763	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGCTTAA	BUFFER|p.R1252W|c.3754C>T|3	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Arg1255Trp,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	3853	293	191	SUCCESS
RGN	9104	.	GRCh37	X	46951499	46951499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A6-01	TCGA-DD-A3A6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	97	0	ENST00000336169.3:c.734C>A	p.Thr245Lys	p.T245K	ENST00000336169		245	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS14272.1	734	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAACAACTT	NONE	.	.	Prints_domain:PR01790,Superfamily_domains:SSF63829,Pfam_domain:PF08450,Gene3D:2.120.10.30,hmmpanther:PTHR10907,hmmpanther:PTHR10907:SF52	.	.	ENSP00000380365	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000397180	Transcript	.	.	ENSG00000130988	9989	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	RGN_HUMAN	RGN	HGNC	.	.	UPI0000135A59	SNV	RGN,missense_variant,p.Thr245Lys,ENST00000352078,;RGN,missense_variant,p.Thr245Lys,ENST00000336169,;RGN,missense_variant,p.Thr173Lys,ENST00000457380,;RGN,missense_variant,p.Thr245Lys,ENST00000397180,;RNU6-1189P,downstream_gene_variant,,ENST00000383958,;RGN,non_coding_transcript_exon_variant,,ENST00000475448,;	1703	97	69	SUCCESS
MRC1L1	0	.	GRCh37	10	17905586	17905586	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	42	212	0	ENST00000331429.2:c.1677T>C	p.Pro559=	p.P559=	ENST00000331429		559	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	.	1677	MUTECT|VARSCANS	.	AGGCCTGAAAA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF55,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000332124	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000331429	Transcript	.	.	ENSG00000183748	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MRC1L1	Clone_based_vega_gene	B4DLK9_HUMAN	.	UPI00001AFE88	SNV	MRC1L1,synonymous_variant,p.%3D,ENST00000331429,;	1780	212	110	SUCCESS
SLC39A12	221074	.	GRCh37	10	18250660	18250660	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	58	173	1	ENST00000377369.2:c.412A>G	p.Lys138Glu	p.K138E	ENST00000377369	NM_001145195.1	138	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS44362.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATAAAGAG	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.26)	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Lys138Glu,ENST00000377369,;SLC39A12,missense_variant,p.Lys4Glu,ENST00000539911,;SLC39A12,missense_variant,p.Lys138Glu,ENST00000377371,;SLC39A12,missense_variant,p.Lys138Glu,ENST00000377374,;	685	174	133	SUCCESS
CCAR1	55749	.	GRCh37	10	70508892	70508892	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs772363949	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	30	0	ENST00000265872.6:c.827-1G>T		p.X276_splice	ENST00000265872	NM_018237.2	276		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAGCTGGT	NONE	.	.	.	.	.	ENSP00000265872	.	.	.	.	.	.	.	.	.	.	rs772363949	.	PASS	ENST00000265872	Transcript	.	.	ENSG00000060339	24236	.	.	HIGH	8/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCAR1_HUMAN	CCAR1	HGNC	F5H7M9_HUMAN,F5H3I8_HUMAN,F5H1H2_HUMAN	.	UPI000004D30A	SNV	CCAR1,splice_acceptor_variant,,ENST00000535016,;CCAR1,splice_acceptor_variant,,ENST00000543225,;CCAR1,splice_acceptor_variant,,ENST00000539539,;CCAR1,splice_acceptor_variant,,ENST00000543719,;CCAR1,splice_acceptor_variant,,ENST00000265872,;CCAR1,splice_acceptor_variant,,ENST00000536012,;CCAR1,splice_acceptor_variant,,ENST00000540210,;CCAR1,splice_acceptor_variant,,ENST00000541012,;CCAR1,splice_acceptor_variant,,ENST00000543229,;	.	30	46	SUCCESS
CCAR1	55749	.	GRCh37	10	70508893	70508893	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	30	0	ENST00000265872.6:c.827C>T	p.Ala276Val	p.A276V	ENST00000265872	NM_018237.2	276	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7282.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGCTGGTT	NONE	.	.	hmmpanther:PTHR14304:SF13,hmmpanther:PTHR14304,Low_complexity_(Seg):seg	.	.	ENSP00000265872	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000265872	Transcript	.	.	ENSG00000060339	24236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.27)	.	CCAR1_HUMAN	CCAR1	HGNC	F5H7M9_HUMAN,F5H3I8_HUMAN,F5H1H2_HUMAN	.	UPI000004D30A	SNV	CCAR1,missense_variant,p.Ala261Val,ENST00000535016,;CCAR1,missense_variant,p.Ala250Val,ENST00000543225,;CCAR1,missense_variant,p.Ala261Val,ENST00000539539,;CCAR1,missense_variant,p.Ala261Val,ENST00000543719,;CCAR1,missense_variant,p.Ala276Val,ENST00000265872,;CCAR1,missense_variant,p.Ala81Val,ENST00000536012,;CCAR1,missense_variant,p.Ala276Val,ENST00000540210,;CCAR1,missense_variant,p.Ala276Val,ENST00000541012,;CCAR1,splice_region_variant,,ENST00000543229,;	946	30	46	SUCCESS
TAF3	83860	.	GRCh37	10	8006438	8006438	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1315842403	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	45	0	ENST00000344293.5:c.965A>G	p.Lys322Arg	p.K322R	ENST00000344293	NM_031923.3	322	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS41487.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAAGAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321	.	.	ENSP00000340271	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000344293	Transcript	.	.	ENSG00000165632	17303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated_low_confidence(0.05)	.	TAF3_HUMAN	TAF3	HGNC	.	.	UPI00004588FA	SNV	TAF3,missense_variant,p.Lys322Arg,ENST00000344293,;	1171	45	40	SUCCESS
GRIA4	2893	.	GRCh37	11	105789505	105789505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	116	0	ENST00000282499.5:c.1337A>G	p.Tyr446Cys	p.Y446C	ENST00000282499	NM_000829.3	446	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8333.1	1337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATACTGTG	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF10613,Gene3D:3.40.190.10,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Tyr446Cys,ENST00000282499,;GRIA4,missense_variant,p.Tyr446Cys,ENST00000530497,;GRIA4,missense_variant,p.Tyr446Cys,ENST00000393127,;GRIA4,missense_variant,p.Tyr446Cys,ENST00000525187,;	1783	116	77	SUCCESS
NPAT	4863	.	GRCh37	11	108064705	108064714	+	frameshift_variant	Frame_Shift_Del	DEL	ACTCATTTAA	ACTCATTTAA	-	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	ACTCATTTAA	ACTCATTTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	128	53	260	0	ENST00000278612.8:c.187_196del	p.Leu63MetfsTer2	p.L63Mfs*2	ENST00000278612	NM_002519.2	63	TTAAATGAGTat/at	0	.	.	.	.	.	-	LNEY/X	protein_coding	YES	CCDS41710.1	187-196	INDELOCATOR*|VARSCANI*|PINDEL	.	CTACATACTCATTTAAAATTG	NONE	.	.	hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087	.	.	ENSP00000278612	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000278612	Transcript	.	.	ENSG00000149308	7896	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAT_HUMAN	NPAT	HGNC	.	.	UPI00001FA306	deletion	NPAT,frameshift_variant,p.Leu63MetfsTer2,ENST00000278612,;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;NPAT,3_prime_UTR_variant,,ENST00000531384,;	293-302	260	181	SUCCESS
DIXDC1	85458	.	GRCh37	11	111851539	111851539	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782671817	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	103	0	ENST00000440460.2:c.734T>C	p.Val245Ala	p.V245A	ENST00000440460	NM_001037954.3	245	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTGATTA	NONE	.	.	hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF18	.	.	ENSP00000394352	.	6/21	.	.	.	.	.	.	.	.	rs782671817	6/21	PASS	ENST00000440460	Transcript	.	.	ENSG00000150764	23695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.23)	.	.	DIXDC1	HGNC	J3KQC9_HUMAN	.	UPI00015E0094	SNV	DIXDC1,missense_variant,p.Val245Ala,ENST00000440460,;DIXDC1,missense_variant,p.Val34Ala,ENST00000315253,;DIXDC1,downstream_gene_variant,,ENST00000529225,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000530411,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524385,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000389821,;DIXDC1,upstream_gene_variant,,ENST00000524609,;	1031	103	68	SUCCESS
HSPA8	3312	.	GRCh37	11	122931847	122931847	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	60	0	ENST00000227378.3:c.186C>T	p.Asn62=	p.N62=	ENST00000227378		62	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS8440.1	186	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGTTCAT	NONE	.	.	hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF156,Gene3D:3.30.30.30,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301	.	.	ENSP00000432083	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000534624	Transcript	.	.	ENSG00000109971	5241	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HSP7C_HUMAN	HSPA8	HGNC	Q9NZ87_HUMAN,Q96IS6_HUMAN,Q96H53_HUMAN,Q96BE0_HUMAN,E9PS65_HUMAN,E9PQQ4_HUMAN,E9PQK7_HUMAN,E9PPY6_HUMAN,E9PN89_HUMAN,E9PN25_HUMAN,E9PM13_HUMAN,E9PLF4_HUMAN,E9PK54_HUMAN,A8K7Q2_HUMAN	.	UPI0000000801	SNV	HSPA8,synonymous_variant,p.%3D,ENST00000526110,;HSPA8,synonymous_variant,p.%3D,ENST00000525463,;HSPA8,synonymous_variant,p.%3D,ENST00000525624,;HSPA8,synonymous_variant,p.%3D,ENST00000528292,;HSPA8,synonymous_variant,p.%3D,ENST00000532182,;HSPA8,synonymous_variant,p.%3D,ENST00000534567,;HSPA8,synonymous_variant,p.%3D,ENST00000530391,;HSPA8,synonymous_variant,p.%3D,ENST00000453788,;HSPA8,synonymous_variant,p.%3D,ENST00000527387,;HSPA8,synonymous_variant,p.%3D,ENST00000227378,;HSPA8,synonymous_variant,p.%3D,ENST00000532636,;HSPA8,synonymous_variant,p.%3D,ENST00000524590,;HSPA8,synonymous_variant,p.%3D,ENST00000533540,;HSPA8,synonymous_variant,p.%3D,ENST00000534624,;HSPA8,upstream_gene_variant,,ENST00000534319,;HSPA8,upstream_gene_variant,,ENST00000524552,;HSPA8,upstream_gene_variant,,ENST00000526686,;SNORD14D,upstream_gene_variant,,ENST00000384390,;SNORD14E,upstream_gene_variant,,ENST00000364009,;SNORD14C,upstream_gene_variant,,ENST00000365382,;HSPA8,non_coding_transcript_exon_variant,,ENST00000533238,;HSPA8,upstream_gene_variant,,ENST00000526862,;HSPA8,non_coding_transcript_exon_variant,,ENST00000527983,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532780,;HSPA8,non_coding_transcript_exon_variant,,ENST00000531063,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532167,;HSPA8,upstream_gene_variant,,ENST00000532091,;	463	60	43	SUCCESS
GLB1L3	112937	.	GRCh37	11	134158769	134158769	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	36	0	ENST00000431683.2:c.714G>A	p.Met238Ile	p.M238I	ENST00000431683	NM_001080407.2	238	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS44780.1	714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATGCCGTA	NONE	.	.	hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59,Gene3D:3.20.20.80,Pfam_domain:PF01301,PIRSF_domain:PIRSF006336,Superfamily_domains:SSF51445	.	.	ENSP00000396615	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000431683	Transcript	.	.	ENSG00000166105	25147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0)	.	GLBL3_HUMAN	GLB1L3	HGNC	.	.	UPI0001633637	SNV	GLB1L3,missense_variant,p.Met238Ile,ENST00000389887,;GLB1L3,missense_variant,p.Met238Ile,ENST00000431683,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000498012,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000532985,;	714	36	26	SUCCESS
MYOD1	4654	.	GRCh37	11	17742472	17742472	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762738028	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	22	40	0	ENST00000250003.3:c.654C>A	p.Ser218Arg	p.S218R	ENST00000250003	NM_002478.4	218	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS7826.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCGGCGC	NONE	.	.	hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2,Pfam_domain:PF12232	.	.	ENSP00000250003	.	2/3	.	.	.	.	.	.	.	.	rs762738028	2/3	PASS	ENST00000250003	Transcript	.	.	ENSG00000129152	7611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.37)	.	MYOD1_HUMAN	MYOD1	HGNC	.	.	UPI000007280C	SNV	MYOD1,missense_variant,p.Ser218Arg,ENST00000250003,;	869	40	38	SUCCESS
IMMP1L	196294	.	GRCh37	11	31482231	31482232	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	274	100	365	0	ENST00000278200.1:c.135dup	p.Gln46SerfsTer12	p.Q46Sfs*12	ENST00000278200	NM_144981.1	45	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS7874.1	135-136	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTTGAATTG	NONE	.	.	hmmpanther:PTHR12383,hmmpanther:PTHR12383:SF14,Pfam_domain:PF00717,TIGRFAM_domain:TIGR02227,Gene3D:2.10.109.10,Superfamily_domains:SSF51306	.	.	ENSP00000278200	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000278200	Transcript	.	.	ENSG00000148950	26317	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IMP1L_HUMAN	IMMP1L	HGNC	E9PNR7_HUMAN,E9PIG6_HUMAN	.	UPI00000427B2	insertion	IMMP1L,frameshift_variant,p.Gln46SerfsTer12,ENST00000530023,;IMMP1L,frameshift_variant,p.Gln46SerfsTer12,ENST00000532287,;IMMP1L,frameshift_variant,p.Gln46SerfsTer12,ENST00000278200,;IMMP1L,frameshift_variant,p.Gln46SerfsTer12,ENST00000529749,;IMMP1L,intron_variant,,ENST00000526776,;IMMP1L,intron_variant,,ENST00000533642,;IMMP1L,intron_variant,,ENST00000534812,;IMMP1L,non_coding_transcript_exon_variant,,ENST00000532624,;IMMP1L,non_coding_transcript_exon_variant,,ENST00000527184,;IMMP1L,intron_variant,,ENST00000531693,;IMMP1L,intron_variant,,ENST00000528161,;IMMP1L,upstream_gene_variant,,ENST00000531331,;	331-332	365	374	SUCCESS
OR5T2	219464	.	GRCh37	11	56000436	56000441	+	inframe_deletion	In_Frame_Del	DEL	AGAGGT	AGAGGT	-	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	AGAGGT	AGAGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	111	0	ENST00000313264.4:c.221_226del	p.Tyr74_Leu75del	p.Y74_L75del	ENST00000313264	NM_001004746.1	74	tACCTCTtc/ttc	0	.	.	.	.	.	-	YLF/F	protein_coding	YES	CCDS31523.1	221-226	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	GAGTGAAGAGGTAGATT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	deletion	OR5T2,inframe_deletion,p.Tyr74_Leu75del,ENST00000313264,;	297-302	111	66	SUCCESS
OR5T3	390154	.	GRCh37	11	56019970	56019970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	56	276	0	ENST00000303059.3:c.295T>A	p.Leu99Met	p.L99M	ENST00000303059	NM_001004747.1	99	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS31524.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTTGGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305403	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303059	Transcript	.	.	ENSG00000172489	15297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	OR5T3_HUMAN	OR5T3	HGNC	.	.	UPI0000061E96	SNV	OR5T3,missense_variant,p.Leu99Met,ENST00000303059,;	295	276	148	SUCCESS
OR9Q1	219956	.	GRCh37	11	57947370	57947370	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370535668	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	54	201	0	ENST00000335397.3:c.454G>T	p.Gly152Cys	p.G152C	ENST00000335397	NM_001005212.3	152	Ggt/Tgt	0	C:0	.	.	.	.	T	G/C	protein_coding	YES	CCDS31543.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGGTCTC	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF276,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	C:0.0001	ENSP00000334934	.	3/3	.	.	.	.	.	.	.	.	rs370535668	3/3	PASS	ENST00000335397	Transcript	.	.	ENSG00000186509	14724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR9Q1_HUMAN	OR9Q1	HGNC	.	.	UPI0000041B48	SNV	OR9Q1,missense_variant,p.Gly152Cys,ENST00000335397,;	770	201	137	SUCCESS
DNHD1	144132	.	GRCh37	11	6579425	6579425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	56	0	ENST00000254579.6:c.8900C>T	p.Pro2967Leu	p.P2967L	ENST00000254579	NM_144666.2	2967	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44532.1	8900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCTGGCC	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	25/43	.	.	.	.	.	.	.	.	.	25/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Pro2967Leu,ENST00000527990,;DNHD1,missense_variant,p.Pro2967Leu,ENST00000254579,;DNHD1,missense_variant,p.Pro48Leu,ENST00000524401,;DNHD1,non_coding_transcript_exon_variant,,ENST00000531903,;DNHD1,non_coding_transcript_exon_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000526027,;	9464	56	42	SUCCESS
SLC29A2	3177	.	GRCh37	11	66135010	66135010	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs962219949	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	95	0	ENST00000357440.2:c.658C>T	p.Arg220Cys	p.R220C	ENST00000357440	NM_001532.2	220	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8137.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGGGCAA	NONE	.	.	hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332,Pfam_domain:PF01733,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473	.	.	ENSP00000350024	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000357440	Transcript	.	.	ENSG00000174669	11004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0.02)	.	S29A2_HUMAN	SLC29A2	HGNC	.	.	UPI000013F0E7	SNV	SLC29A2,missense_variant,p.Arg220Cys,ENST00000311161,;SLC29A2,missense_variant,p.Arg220Cys,ENST00000546034,;SLC29A2,missense_variant,p.Arg220Cys,ENST00000544554,;SLC29A2,missense_variant,p.Arg220Cys,ENST00000357440,;RP11-867G23.8,downstream_gene_variant,,ENST00000531602,;RP11-867G23.8,downstream_gene_variant,,ENST00000580881,;SLC29A2,missense_variant,p.Arg220Cys,ENST00000540386,;SLC29A2,missense_variant,p.Pro197Leu,ENST00000541567,;	887	95	81	SUCCESS
PRKRIR	0	.	GRCh37	11	76063257	76063257	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs148924079	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	120	385	0	ENST00000260045.3:c.937A>G	p.Met313Val	p.M313V	ENST00000260045	NM_004705.2	313	Atg/Gtg	0	C:0.0002	.	.	.	.	C	M/V	protein_coding	YES	CCDS8243.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCATAGTGT	NONE	byCluster	.	hmmpanther:PTHR11697:SF10,hmmpanther:PTHR11697,Pfam_domain:PF14291,Superfamily_domains:SSF53098	.	C:0.0001	ENSP00000260045	.	5/5	.	.	.	.	.	.	.	.	rs148924079,COSM246787	5/5	PASS	ENST00000260045	Transcript	.	.	ENSG00000137492	9440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.23)	0,1	P52K_HUMAN	PRKRIR	HGNC	B4DS64_HUMAN	.	UPI0000131030	SNV	PRKRIR,missense_variant,p.Met313Val,ENST00000260045,;PRKRIR,downstream_gene_variant,,ENST00000531878,;PRKRIR,non_coding_transcript_exon_variant,,ENST00000529901,;PRKRIR,downstream_gene_variant,,ENST00000528993,;PRKRIR,downstream_gene_variant,,ENST00000525277,;	1043	385	314	SUCCESS
USP35	57558	.	GRCh37	11	77920573	77920573	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs202205531	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	88	0	ENST00000529308.1:c.1672C>A	p.Pro558Thr	p.P558T	ENST00000529308	NM_020798.2	558	Ccc/Acc	0	.	T:0.0008	.	T:0	.	A	P/T	protein_coding	YES	CCDS41693.1	1672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCCCCCG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF343,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	T:0	.	ENSP00000431876	T:0	10/11	.	.	.	.	.	.	.	.	rs202205531	10/11	PASS	ENST00000529308	Transcript	.	T:0.0002	ENSG00000118369	20061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0	tolerated(0.51)	.	UBP35_HUMAN	USP35	HGNC	E9PRM2_HUMAN,E9PK78_HUMAN	.	UPI0000456553	SNV	USP35,missense_variant,p.Pro558Thr,ENST00000529308,;USP35,missense_variant,p.Pro289Thr,ENST00000526425,;USP35,missense_variant,p.Pro144Thr,ENST00000441408,;USP35,missense_variant,p.Pro126Thr,ENST00000530267,;USP35,downstream_gene_variant,,ENST00000528910,;USP35,non_coding_transcript_exon_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,non_coding_transcript_exon_variant,,ENST00000530521,;	1933	88	87	SUCCESS
RPH3A	22895	.	GRCh37	12	113304627	113304627	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	59	0	ENST00000389385.4:c.426C>G	p.Ile142Met	p.I142M	ENST00000389385	NM_001143854.1	142	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS44979.1	426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTGCAT	NONE	.	.	PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903	.	.	ENSP00000374036	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000389385	Transcript	.	.	ENSG00000089169	17056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RP3A_HUMAN	RPH3A	HGNC	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN	.	UPI000013456D	SNV	RPH3A,missense_variant,p.Ile75Met,ENST00000550901,;RPH3A,missense_variant,p.Ile142Met,ENST00000415485,;RPH3A,missense_variant,p.Ile138Met,ENST00000551052,;RPH3A,missense_variant,p.Ile142Met,ENST00000543106,;RPH3A,missense_variant,p.Ile142Met,ENST00000551593,;RPH3A,missense_variant,p.Ile93Met,ENST00000447659,;RPH3A,missense_variant,p.Ile93Met,ENST00000548866,;RPH3A,missense_variant,p.Ile142Met,ENST00000420983,;RPH3A,missense_variant,p.Ile142Met,ENST00000547728,;RPH3A,missense_variant,p.Ile142Met,ENST00000389385,;RPH3A,downstream_gene_variant,,ENST00000547686,;RPH3A,downstream_gene_variant,,ENST00000546703,;RPH3A,downstream_gene_variant,,ENST00000552667,;RPH3A,downstream_gene_variant,,ENST00000548197,;RPH3A,downstream_gene_variant,,ENST00000547840,;RPH3A,downstream_gene_variant,,ENST00000549769,;RPH3A,downstream_gene_variant,,ENST00000551748,;RPH3A,downstream_gene_variant,,ENST00000551198,;RPH3A,downstream_gene_variant,,ENST00000553114,;RPH3A,non_coding_transcript_exon_variant,,ENST00000547222,;RPH3A,upstream_gene_variant,,ENST00000549913,;RPH3A,downstream_gene_variant,,ENST00000552679,;RPH3A,downstream_gene_variant,,ENST00000547099,;	923	59	58	SUCCESS
ATF7IP	55729	.	GRCh37	12	14631250	14631250	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	22	98	0	ENST00000261168.4:c.2942-1G>T		p.X981_splice	ENST00000261168	NM_018179.3	981		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8663.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGACCCC	NONE	.	.	.	.	.	ENSP00000261168	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	HIGH	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,splice_acceptor_variant,,ENST00000261168,;ATF7IP,splice_acceptor_variant,,ENST00000540793,;ATF7IP,splice_acceptor_variant,,ENST00000543189,;ATF7IP,splice_acceptor_variant,,ENST00000544627,;ATF7IP,splice_acceptor_variant,,ENST00000536444,;ATF7IP,upstream_gene_variant,,ENST00000535738,;ATF7IP,downstream_gene_variant,,ENST00000535179,;ATF7IP,downstream_gene_variant,,ENST00000537653,;	.	98	37	SUCCESS
ATF7IP	55729	.	GRCh37	12	14631251	14631251	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	22	98	0	ENST00000261168.4:c.2942A>C	p.Asp981Ala	p.D981A	ENST00000261168	NM_018179.3	981	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS8663.1	2942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGACCCCA	NONE	.	.	hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210	.	.	ENSP00000261168	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,missense_variant,p.Asp981Ala,ENST00000261168,;ATF7IP,missense_variant,p.Asp981Ala,ENST00000540793,;ATF7IP,missense_variant,p.Asp980Ala,ENST00000543189,;ATF7IP,missense_variant,p.Asp989Ala,ENST00000544627,;ATF7IP,missense_variant,p.Asp980Ala,ENST00000536444,;ATF7IP,upstream_gene_variant,,ENST00000535738,;ATF7IP,downstream_gene_variant,,ENST00000535179,;ATF7IP,downstream_gene_variant,,ENST00000537653,;	3095	98	37	SUCCESS
MANSC4	100287284	.	GRCh37	12	27919595	27919595	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	29	107	0	ENST00000381273.3:c.364+3A>T		p.X122_splice	ENST00000381273	NM_001146221.1	122		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53770.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATTACCGT	NONE	.	.	.	.	.	ENSP00000370673	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381273	Transcript	.	.	ENSG00000205693	40023	.	.	LOW	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MANS4_HUMAN	MANSC4	HGNC	.	.	UPI00019912E6	SNV	MANSC4,splice_region_variant,,ENST00000381273,;	.	107	42	SUCCESS
LRRK2	120892	.	GRCh37	12	40687370	40687370	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	95	110	0	ENST00000298910.7:c.2713A>T	p.Lys905Ter	p.K905*	ENST00000298910	NM_198578.3	905	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31774.1	2713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGAAAAAG	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	.	.	ENSP00000298910	.	21/51	.	.	.	.	.	.	.	.	.	21/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,stop_gained,p.Lys905Ter,ENST00000343742,;LRRK2,stop_gained,p.Lys905Ter,ENST00000298910,;LRRK2,upstream_gene_variant,,ENST00000479187,;LRRK2,upstream_gene_variant,,ENST00000430804,;	2771	110	131	SUCCESS
PDZRN4	29951	.	GRCh37	12	41957413	41957413	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755567199	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	62	88	0	ENST00000402685.2:c.1429A>G	p.Lys477Glu	p.K477E	ENST00000402685	NM_001164595.1	477	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS53777.1	1429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTAAGAGA	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545	.	.	ENSP00000384197	.	8/10	.	.	.	.	.	.	.	.	rs755567199	8/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	tolerated(0.1)	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,missense_variant,p.Lys217Glu,ENST00000298919,;PDZRN4,missense_variant,p.Lys219Glu,ENST00000539469,;PDZRN4,missense_variant,p.Lys477Glu,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	1437	88	93	SUCCESS
KMT2D	8085	.	GRCh37	12	49416062	49416062	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs794727752	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	16	64	0	ENST00000301067.7:c.16412+1G>T		p.X5471_splice	ENST00000301067	NM_003482.3	5471		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44873.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTCACCTGGC	NONE	.	.	.	.	.	ENSP00000301067	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	HIGH	52/53	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,splice_donor_variant,,ENST00000301067,;KMT2D,splice_donor_variant,,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000548950,;PRKAG1,upstream_gene_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000552212,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000316299,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000395170,;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000547125,;PRKAG1,upstream_gene_variant,,ENST00000551696,;RP11-386G11.5,downstream_gene_variant,,ENST00000547866,;RP11-386G11.5,downstream_gene_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;PRKAG1,upstream_gene_variant,,ENST00000552657,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000546531,;	.	64	81	SUCCESS
LRIG3	121227	.	GRCh37	12	59313326	59313326	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	44	0	ENST00000320743.3:c.236+455T>G		p.*79*	ENST00000320743	NM_153377.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8960.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTACTGGG	NONE	.	.	.	.	.	ENSP00000326759	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320743	Transcript	.	.	ENSG00000139263	30991	.	.	MODIFIER	1/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIG3_HUMAN	LRIG3	HGNC	F8VYZ5_HUMAN	.	UPI0000035BB5	SNV	LRIG3,5_prime_UTR_variant,,ENST00000379141,;LRIG3,intron_variant,,ENST00000320743,;LRIG3,upstream_gene_variant,,ENST00000552267,;RP11-150C16.1,upstream_gene_variant,,ENST00000547590,;LRIG3,intron_variant,,ENST00000433272,;LRIG3,intron_variant,,ENST00000548968,;	.	44	48	SUCCESS
USP5	8078	.	GRCh37	12	6973284	6973284	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	72	0	ENST00000229268.8:c.2169T>G	p.Pro723=	p.P723=	ENST00000229268	NM_001098536.1	723	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41743.1	2169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTCCTGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,PROSITE_profiles:PS50030,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,Pfam_domain:PF00443,Gene3D:1.10.8.10,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF46934	.	.	ENSP00000229268	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,synonymous_variant,p.%3D,ENST00000229268,;USP5,synonymous_variant,p.%3D,ENST00000389231,;TPI1,upstream_gene_variant,,ENST00000396705,;TPI1,upstream_gene_variant,,ENST00000229270,;TPI1,upstream_gene_variant,,ENST00000535434,;TPI1,upstream_gene_variant,,ENST00000488464,;TPI1,upstream_gene_variant,,ENST00000495834,;TPI1,upstream_gene_variant,,ENST00000462761,;TPI1,upstream_gene_variant,,ENST00000493987,;USP5,downstream_gene_variant,,ENST00000542087,;USP5,downstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000542371,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;	2221	72	19	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111927941	111927941	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	109	0	ENST00000375741.2:c.1398C>A	p.Ile466=	p.I466=	ENST00000375741	NM_145735.2	466	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS45068.1	1398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCCGGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF50729,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826	.	.	ENSP00000364893	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,synonymous_variant,p.%3D,ENST00000466143,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375736,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375737,;ARHGEF7,synonymous_variant,p.%3D,ENST00000478679,;ARHGEF7,synonymous_variant,p.%3D,ENST00000218789,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375739,;ARHGEF7,synonymous_variant,p.%3D,ENST00000544132,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375723,;ARHGEF7,synonymous_variant,p.%3D,ENST00000426073,;ARHGEF7,synonymous_variant,p.%3D,ENST00000375741,;ARHGEF7,synonymous_variant,p.%3D,ENST00000317133,;ARHGEF7,synonymous_variant,p.%3D,ENST00000370623,;ARHGEF7,non_coding_transcript_exon_variant,,ENST00000483189,;ARHGEF7,3_prime_UTR_variant,,ENST00000469877,;	1648	109	110	SUCCESS
STARD13	90627	.	GRCh37	13	33681023	33681023	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	96	0	ENST00000336934.5:c.3096C>G	p.Leu1032=	p.L1032=	ENST00000336934	NM_178006.3	1032	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9348.1	3096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGAGAGGGA	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659,Pfam_domain:PF01852,Gene3D:3.30.530.20,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000338785	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000336934	Transcript	.	.	ENSG00000133121	19164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STA13_HUMAN	STARD13	HGNC	B3KT04_HUMAN,B2R789_HUMAN	.	UPI000006226E	SNV	STARD13,synonymous_variant,p.%3D,ENST00000336934,;STARD13,synonymous_variant,p.%3D,ENST00000255486,;STARD13,synonymous_variant,p.%3D,ENST00000399365,;STARD13,downstream_gene_variant,,ENST00000491333,;	3213	96	56	SUCCESS
WDFY2	115825	.	GRCh37	13	52301872	52301872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	62	0	ENST00000298125.5:c.544C>A	p.Leu182Ile	p.L182I	ENST00000298125	NM_052950.3	182	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS9429.1	544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCCTCAAA	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF84,PROSITE_profiles:PS50294	.	.	ENSP00000298125	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000298125	Transcript	.	.	ENSG00000139668	20482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.03)	.	WDFY2_HUMAN	WDFY2	HGNC	.	.	UPI00000466AC	SNV	WDFY2,missense_variant,p.Leu182Ile,ENST00000298125,;	724	62	58	SUCCESS
MYCBP2	23077	.	GRCh37	13	77740568	77740568	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754388017	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	44	133	1	ENST00000357337.6:c.6122A>G	p.Tyr2041Cys	p.Y2041C	ENST00000357337		2041	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	.	6122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATATCCT	BUFFER|p.G2042R|c.6124G>A|3,BUFFER|p.G2042R|c.6124G>A|3,BUFFER|p.G2080R|c.6238G>A|3	byFrequency	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	41/83	.	.	.	.	.	.	.	.	rs754388017	41/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Tyr2041Cys,ENST00000357337,;MYCBP2,missense_variant,p.Tyr2041Cys,ENST00000544440,;MYCBP2,missense_variant,p.Tyr2079Cys,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;	6140	134	161	SUCCESS
RP11-66N24.3	0	.	GRCh37	14	24035225	24035225	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	33	46	0	ENST00000555968.1:n.1452T>C		p.*484*	ENST00000555968				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9602.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTTCTGT	NONE	.	.	.	.	.	ENSP00000312442	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308724	Transcript	.	.	ENSG00000213983	556	.	.	MODIFIER	4/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP1G2_HUMAN	AP1G2	HGNC	Q86U41_HUMAN,Q86U03_HUMAN,G3V532_HUMAN,G3V3Z2_HUMAN,G3V2V9_HUMAN	.	UPI0000124FE8	SNV	AP1G2,intron_variant,,ENST00000308724,;AP1G2,intron_variant,,ENST00000557189,;AP1G2,intron_variant,,ENST00000397120,;AP1G2,downstream_gene_variant,,ENST00000556843,;JPH4,downstream_gene_variant,,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000554477,;JPH4,downstream_gene_variant,,ENST00000397118,;JPH4,downstream_gene_variant,,ENST00000356300,;RP11-66N24.3,non_coding_transcript_exon_variant,,ENST00000555968,;AP1G2,intron_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000555118,;AP1G2,upstream_gene_variant,,ENST00000555510,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554069,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554312,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556743,;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,;AP1G2,non_coding_transcript_exon_variant,,ENST00000557619,;AP1G2,non_coding_transcript_exon_variant,,ENST00000555896,;AP1G2,non_coding_transcript_exon_variant,,ENST00000553629,;AP1G2,intron_variant,,ENST00000556943,;AP1G2,intron_variant,,ENST00000553756,;AP1G2,intron_variant,,ENST00000557482,;AP1G2,intron_variant,,ENST00000465445,;AP1G2,upstream_gene_variant,,ENST00000556741,;AP1G2,upstream_gene_variant,,ENST00000555789,;AP1G2,downstream_gene_variant,,ENST00000553685,;AP1G2,downstream_gene_variant,,ENST00000554816,;AP1G2,upstream_gene_variant,,ENST00000557132,;AP1G2,upstream_gene_variant,,ENST00000557162,;AP1G2,upstream_gene_variant,,ENST00000555974,;AP1G2,upstream_gene_variant,,ENST00000554977,;AP1G2,upstream_gene_variant,,ENST00000554554,;AP1G2,upstream_gene_variant,,ENST00000556966,;AP1G2,upstream_gene_variant,,ENST00000554982,;AP1G2,upstream_gene_variant,,ENST00000556152,;	.	46	57	SUCCESS
GPHN	10243	.	GRCh37	14	67346716	67346716	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	28	113	0	ENST00000315266.5:c.354A>T	p.Gly118=	p.G118=	ENST00000315266	NM_001024218.1	118	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9777.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGATCACT	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF00994,Gene3D:3.40.980.10,TIGRFAM_domain:TIGR00177,SMART_domains:SM00852,Superfamily_domains:SSF53218	.	.	ENSP00000417901	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,synonymous_variant,p.%3D,ENST00000459628,;GPHN,synonymous_variant,p.%3D,ENST00000543237,;GPHN,synonymous_variant,p.%3D,ENST00000305960,;GPHN,synonymous_variant,p.%3D,ENST00000555456,;GPHN,synonymous_variant,p.%3D,ENST00000315266,;GPHN,synonymous_variant,p.%3D,ENST00000478722,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,3_prime_UTR_variant,,ENST00000555668,;GPHN,3_prime_UTR_variant,,ENST00000556633,;GPHN,3_prime_UTR_variant,,ENST00000557654,;GPHN,3_prime_UTR_variant,,ENST00000553936,;	1475	113	41	SUCCESS
CLMN	79789	.	GRCh37	14	95669653	95669653	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	96	1	ENST00000298912.4:c.2033A>G	p.Asp678Gly	p.D678G	ENST00000298912	NM_024734.3	678	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9933.1	2033	MUTECT|MUSE	.	GGAGGTCATCG	NONE	.	.	hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915	.	.	ENSP00000298912	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000298912	Transcript	.	.	ENSG00000165959	19972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	CLMN_HUMAN	CLMN	HGNC	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN	.	UPI000006DB99	SNV	CLMN,missense_variant,p.Asp678Gly,ENST00000298912,;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;	2147	97	41	SUCCESS
DMXL2	23312	.	GRCh37	15	51839582	51839582	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	70	0	ENST00000251076.5:c.591G>A	p.Trp197Ter	p.W197*	ENST00000251076	NM_015263.3	197	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS53946.1	591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATACCACAC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	7/43	.	.	.	.	.	.	.	.	COSM470793	7/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,stop_gained,p.Trp197Ter,ENST00000449909,;DMXL2,stop_gained,p.Trp197Ter,ENST00000543779,;DMXL2,stop_gained,p.Trp197Ter,ENST00000251076,;DMXL2,non_coding_transcript_exon_variant,,ENST00000560421,;	681	70	64	SUCCESS
LACTB	114294	.	GRCh37	15	63419842	63419842	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	127	0	ENST00000261893.4:c.906T>G	p.Ile302Met	p.I302M	ENST00000261893	NM_032857.3	302	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS10182.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATTGAATC	NONE	.	.	hmmpanther:PTHR22935,hmmpanther:PTHR22935:SF64,Pfam_domain:PF00144,Gene3D:3.40.710.10,Superfamily_domains:SSF56601	.	.	ENSP00000261893	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000261893	Transcript	.	.	ENSG00000103642	16468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.09)	.	LACTB_HUMAN	LACTB	HGNC	H0YNN5_HUMAN	.	UPI000013D220	SNV	LACTB,missense_variant,p.Ile302Met,ENST00000261893,;LACTB,missense_variant,p.Ile302Met,ENST00000413507,;LACTB,downstream_gene_variant,,ENST00000557972,;RPS27L,intron_variant,,ENST00000559763,;LACTB,upstream_gene_variant,,ENST00000559782,;	978	127	97	SUCCESS
TLE3	7090	.	GRCh37	15	70343755	70343755	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747052800	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	85	0	ENST00000558939.1:c.2186C>T	p.Thr729Met	p.T729M	ENST00000558939	NM_001282979.1	729	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS45293.1	2186	MUTECT|MUSE	.	AAGGCGTCCTC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR10814,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR01850	.	.	ENSP00000452871	.	19/20	.	.	.	.	.	.	.	.	rs747052800	19/20	PASS	ENST00000558939	Transcript	.	.	ENSG00000140332	11839	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TLE3_HUMAN	TLE3	HGNC	H0YNT2_HUMAN	.	UPI000013703A	SNV	TLE3,missense_variant,p.Thr735Met,ENST00000558201,;TLE3,missense_variant,p.Thr656Met,ENST00000539550,;TLE3,missense_variant,p.Thr721Met,ENST00000557997,;TLE3,missense_variant,p.Thr739Met,ENST00000559929,;TLE3,missense_variant,p.Thr721Met,ENST00000442299,;TLE3,missense_variant,p.Thr731Met,ENST00000560939,;TLE3,missense_variant,p.Thr673Met,ENST00000560589,;TLE3,missense_variant,p.Thr726Met,ENST00000451782,;TLE3,missense_variant,p.Thr724Met,ENST00000558379,;TLE3,missense_variant,p.Thr721Met,ENST00000557907,;TLE3,missense_variant,p.Thr729Met,ENST00000558939,;TLE3,missense_variant,p.Thr719Met,ENST00000440567,;TLE3,missense_variant,p.Thr310Met,ENST00000559191,;TLE3,missense_variant,p.Thr717Met,ENST00000317509,;TLE3,missense_variant,p.Thr729Met,ENST00000559048,;TLE3,3_prime_UTR_variant,,ENST00000560525,;TLE3,3_prime_UTR_variant,,ENST00000557919,;TLE3,3_prime_UTR_variant,,ENST00000561453,;TLE3,non_coding_transcript_exon_variant,,ENST00000557815,;TLE3,non_coding_transcript_exon_variant,,ENST00000559608,;TLE3,downstream_gene_variant,,ENST00000542329,;	3564	85	53	SUCCESS
MYO9A	4649	.	GRCh37	15	72338583	72338583	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	46	104	0	ENST00000356056.5:c.322A>C	p.Arg108=	p.R108=	ENST00000356056	NM_006901.3	108	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS10239.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTCAGAA	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000348349	.	2/42	.	.	.	.	.	.	.	.	.	2/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,synonymous_variant,p.%3D,ENST00000424560,;MYO9A,synonymous_variant,p.%3D,ENST00000569314,;MYO9A,synonymous_variant,p.%3D,ENST00000564571,;MYO9A,synonymous_variant,p.%3D,ENST00000356056,;MYO9A,synonymous_variant,p.%3D,ENST00000444904,;MYO9A,intron_variant,,ENST00000566885,;MYO9A,downstream_gene_variant,,ENST00000564931,;RNU2-65P,downstream_gene_variant,,ENST00000410162,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567560,;MYO9A,upstream_gene_variant,,ENST00000568438,;RP11-390D11.2,upstream_gene_variant,,ENST00000564027,;	795	104	98	SUCCESS
PALB2	79728	.	GRCh37	16	23646316	23646316	+	synonymous_variant	Silent	SNP	T	T	C	rs755845383	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	54	147	0	ENST00000261584.4:c.1551A>G	p.Lys517=	p.K517=	ENST00000261584	NM_024675.3	517	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS32406.1	1551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATTTTCT	NONE	byFrequency	.	hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662	.	.	ENSP00000261584	.	4/13	.	.	.	.	.	.	.	.	rs755845383	4/13	PASS	ENST00000261584	Transcript	.	.	ENSG00000083093	26144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALB2_HUMAN	PALB2	HGNC	.	.	UPI000000DA86	SNV	PALB2,synonymous_variant,p.%3D,ENST00000261584,;PALB2,downstream_gene_variant,,ENST00000561514,;PALB2,3_prime_UTR_variant,,ENST00000568219,;PALB2,intron_variant,,ENST00000565038,;PALB2,downstream_gene_variant,,ENST00000567003,;	1704	147	124	SUCCESS
KDM8	79831	.	GRCh37	16	27225073	27225073	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	58	0	ENST00000286096.4:c.665+1G>C		p.X222_splice	ENST00000286096	NM_024773.2	222		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45448.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGTGGGT	NONE	.	.	.	.	.	ENSP00000398410	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441782	Transcript	.	.	ENSG00000155666	25840	.	.	HIGH	3/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM8_HUMAN	KDM8	HGNC	H3BR76_HUMAN,H3BM39_HUMAN,B4DPM6_HUMAN	.	UPI00017A73AE	SNV	KDM8,splice_donor_variant,,ENST00000441782,;KDM8,splice_donor_variant,,ENST00000286096,;KDM8,intron_variant,,ENST00000380948,;KDM8,intron_variant,,ENST00000568965,;KDM8,downstream_gene_variant,,ENST00000562733,;KDM8,downstream_gene_variant,,ENST00000569329,;KDM8,upstream_gene_variant,,ENST00000567735,;CTD-3203P2.1,non_coding_transcript_exon_variant,,ENST00000567108,;KDM8,upstream_gene_variant,,ENST00000567785,;KDM8,upstream_gene_variant,,ENST00000567366,;KDM8,downstream_gene_variant,,ENST00000562269,;KDM8,upstream_gene_variant,,ENST00000568792,;KDM8,upstream_gene_variant,,ENST00000563571,;KDM8,downstream_gene_variant,,ENST00000564961,;	.	58	46	SUCCESS
KIF22	3835	.	GRCh37	16	29814926	29814926	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	64	0	ENST00000160827.4:c.1606C>G	p.Leu536Val	p.L536V	ENST00000160827	NM_001256269.1	536	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS10653.1	1606	MUTECT|MUSE	.	TACAGCTAAGT	NONE	.	.	hmmpanther:PTHR24115:SF171,hmmpanther:PTHR24115	.	.	ENSP00000160827	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000160827	Transcript	.	.	ENSG00000079616	6391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.708)	.	tolerated(0.85)	.	KIF22_HUMAN	KIF22	HGNC	Q14985_HUMAN,H3BTH5_HUMAN,H3BQB9_HUMAN	.	UPI00000012C0	SNV	KIF22,missense_variant,p.Leu468Val,ENST00000569382,;KIF22,missense_variant,p.Leu41Val,ENST00000400750,;KIF22,missense_variant,p.Leu468Val,ENST00000561482,;KIF22,missense_variant,p.Leu468Val,ENST00000400751,;KIF22,missense_variant,p.Leu536Val,ENST00000160827,;MAZ,upstream_gene_variant,,ENST00000545521,;MAZ,upstream_gene_variant,,ENST00000566906,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000568544,;MAZ,upstream_gene_variant,,ENST00000563012,;KIF22,downstream_gene_variant,,ENST00000569636,;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000219782,;MAZ,upstream_gene_variant,,ENST00000562337,;MAZ,upstream_gene_variant,,ENST00000563402,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000567444,;MAZ,upstream_gene_variant,,ENST00000322945,;AC009133.15,downstream_gene_variant,,ENST00000566537,;KIF22,downstream_gene_variant,,ENST00000563263,;KIF22,missense_variant,p.Leu36Val,ENST00000568312,;KIF22,non_coding_transcript_exon_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000563666,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000570173,;	1646	64	47	SUCCESS
TAOK2	9344	.	GRCh37	16	29992748	29992748	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	20	0	ENST00000308893.4:c.656-234G>A		p.*219*	ENST00000308893	NM_016151.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10663.1	.	MUTECT|MUSE	.	CTTTTGTGGAT	NONE	.	.	.	.	.	ENSP00000310094	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308893	Transcript	.	.	ENSG00000149930	16835	.	.	MODIFIER	8/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TAOK2_HUMAN	TAOK2	HGNC	.	.	UPI000013EDDA	SNV	TAOK2,5_prime_UTR_variant,,ENST00000416441,;TAOK2,intron_variant,,ENST00000543033,;TAOK2,intron_variant,,ENST00000279394,;TAOK2,intron_variant,,ENST00000308893,;TAOK2,upstream_gene_variant,,ENST00000566552,;	.	20	8	SUCCESS
ABCC11	85320	.	GRCh37	16	48242358	48242358	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs747456949	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	51	0	ENST00000356608.2:c.1658T>C	p.Leu553Pro	p.L553P	ENST00000356608		553	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS10732.1	1658	RADIA|VARSCANS	.	ACAACAGGCTG	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF168,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000378230	.	11/29	.	.	.	.	.	.	.	.	rs747456949	11/29	PASS	ENST00000394747	Transcript	.	.	ENSG00000121270	14639	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABCCB_HUMAN	ABCC11	HGNC	H3BRJ2_HUMAN	.	UPI0000052711	SNV	ABCC11,missense_variant,p.Leu553Pro,ENST00000394747,;ABCC11,missense_variant,p.Leu553Pro,ENST00000394748,;ABCC11,missense_variant,p.Leu553Pro,ENST00000537808,;ABCC11,missense_variant,p.Leu553Pro,ENST00000353782,;ABCC11,missense_variant,p.Leu553Pro,ENST00000356608,;ABCC11,downstream_gene_variant,,ENST00000567385,;	2008	51	33	SUCCESS
PPL	5493	.	GRCh37	16	4935181	4935181	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762357647	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	111	0	ENST00000345988.2:c.3475T>C	p.Trp1159Arg	p.W1159R	ENST00000345988	NM_002705.4	1159	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS10526.1	3475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCATATCT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169	.	.	ENSP00000340510	.	22/22	.	.	.	.	.	.	.	.	rs762357647	22/22	PASS	ENST00000345988	Transcript	.	.	ENSG00000118898	9273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	PEPL_HUMAN	PPL	HGNC	.	.	UPI00001AE832	SNV	PPL,missense_variant,p.Trp580Arg,ENST00000592772,;PPL,missense_variant,p.Trp1157Arg,ENST00000590782,;PPL,missense_variant,p.Trp1159Arg,ENST00000345988,;UBN1,downstream_gene_variant,,ENST00000262376,;UBN1,downstream_gene_variant,,ENST00000590769,;UBN1,downstream_gene_variant,,ENST00000545171,;UBN1,downstream_gene_variant,,ENST00000396658,;UBN1,downstream_gene_variant,,ENST00000589191,;PPL,downstream_gene_variant,,ENST00000589090,;	3565	111	62	SUCCESS
C16orf89	146556	.	GRCh37	16	5108602	5108602	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	18	0	ENST00000315997.5:c.519C>G	p.Ser173Arg	p.S173R	ENST00000315997	NM_152459.4	173	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS42116.2	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTGCTGTC	NONE	.	.	.	.	.	ENSP00000324672	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000315997	Transcript	.	.	ENSG00000153446	28687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	deleterious(0.05)	.	CP089_HUMAN	C16orf89	HGNC	.	.	UPI000166306A	SNV	C16orf89,missense_variant,p.Ser211Arg,ENST00000350219,;C16orf89,missense_variant,p.Ser173Arg,ENST00000315997,;C16orf89,missense_variant,p.Ser211Arg,ENST00000422873,;C16orf89,missense_variant,p.Ser173Arg,ENST00000474471,;C16orf89,missense_variant,p.Ser173Arg,ENST00000472572,;ALG1,intron_variant,,ENST00000588623,;C16orf89,non_coding_transcript_exon_variant,,ENST00000592343,;C16orf89,upstream_gene_variant,,ENST00000586629,;C16orf89,downstream_gene_variant,,ENST00000591875,;	721	18	24	SUCCESS
NLRC5	84166	.	GRCh37	16	57054706	57054706	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	70	0	ENST00000262510.6:c.82C>A	p.Leu28Met	p.L28M	ENST00000262510	NM_032206.4	28	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS10773.1	82	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCTGAAC	NONE	.	.	hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106	.	.	ENSP00000262510	.	3/49	.	.	.	.	.	.	.	.	.	3/49	PASS	ENST00000262510	Transcript	.	.	ENSG00000140853	29933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0.03)	.	NLRC5_HUMAN	NLRC5	HGNC	F5H274_HUMAN,F5GYP0_HUMAN	.	UPI00001AEE94	SNV	NLRC5,missense_variant,p.Leu28Met,ENST00000308149,;NLRC5,missense_variant,p.Leu28Met,ENST00000539144,;NLRC5,missense_variant,p.Leu28Met,ENST00000544641,;NLRC5,missense_variant,p.Leu28Met,ENST00000436936,;NLRC5,missense_variant,p.Leu28Met,ENST00000262510,;NLRC5,upstream_gene_variant,,ENST00000538805,;NLRC5,downstream_gene_variant,,ENST00000538059,;NLRC5,missense_variant,p.Leu28Met,ENST00000539881,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538273,;NLRC5,upstream_gene_variant,,ENST00000545081,;	307	70	52	SUCCESS
TPPP3	51673	.	GRCh37	16	67424967	67424967	+	synonymous_variant	Silent	SNP	C	C	T	rs778166680	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	61	0	ENST00000290942.5:c.48G>A	p.Lys16=	p.K16=	ENST00000290942	NM_016140.2	16	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS10835.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAACTTGCG	NONE	.	.	hmmpanther:PTHR12932,hmmpanther:PTHR12932:SF16,Pfam_domain:PF05517,Superfamily_domains:SSF47473	.	.	ENSP00000462435	.	1/3	.	.	.	.	.	.	.	.	rs778166680	1/3	PASS	ENST00000564104	Transcript	.	.	ENSG00000159713	24162	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPPP3_HUMAN	TPPP3	HGNC	.	.	UPI0000127598	SNV	TPPP3,synonymous_variant,p.%3D,ENST00000562206,;TPPP3,synonymous_variant,p.%3D,ENST00000290942,;TPPP3,synonymous_variant,p.%3D,ENST00000393957,;TPPP3,synonymous_variant,p.%3D,ENST00000564104,;ZDHHC1,downstream_gene_variant,,ENST00000348579,;ZDHHC1,downstream_gene_variant,,ENST00000565726,;RNU1-123P,upstream_gene_variant,,ENST00000458950,;ZDHHC1,downstream_gene_variant,,ENST00000566075,;ZDHHC1,downstream_gene_variant,,ENST00000567311,;ZDHHC1,downstream_gene_variant,,ENST00000562122,;TPPP3,non_coding_transcript_exon_variant,,ENST00000561537,;	890	61	47	SUCCESS
TANGO6	79613	.	GRCh37	16	68953097	68953097	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	58	0	ENST00000261778.1:c.2102C>T	p.Ala701Val	p.A701V	ENST00000261778	NM_024562.1	701	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45516.1	2102	MUTECT|MUSE	.	GGTGGCTGTCA	NONE	.	.	hmmpanther:PTHR20959:SF1,hmmpanther:PTHR20959,Superfamily_domains:SSF48371	.	.	ENSP00000261778	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000261778	Transcript	.	.	ENSG00000103047	25749	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.694)	.	deleterious(0)	.	TNG6_HUMAN	TANGO6	HGNC	B3KTB6_HUMAN	.	UPI00001FF4A8	SNV	TANGO6,missense_variant,p.Ala701Val,ENST00000261778,;TANGO6,3_prime_UTR_variant,,ENST00000561856,;	2114	58	52	SUCCESS
GLG1	2734	.	GRCh37	16	74487222	74487222	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	106	0	ENST00000422840.2:c.3383C>T	p.Ala1128Val	p.A1128V	ENST00000422840	NM_001145667.1	1128	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32485.1	3383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGCTGGG	NONE	.	.	hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF1	.	.	ENSP00000205061	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000205061	Transcript	.	.	ENSG00000090863	4316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.32)	.	GSLG1_HUMAN	GLG1	HGNC	Q6ZMF1_HUMAN,H3BQT1_HUMAN	.	UPI00001FFBD9	SNV	GLG1,missense_variant,p.Ala1128Val,ENST00000422840,;GLG1,missense_variant,p.Ala1128Val,ENST00000205061,;GLG1,missense_variant,p.Ala1117Val,ENST00000447066,;RNU6-237P,upstream_gene_variant,,ENST00000515985,;RP11-252A24.7,upstream_gene_variant,,ENST00000566788,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561942,;	3403	106	88	SUCCESS
SPATA33	124045	.	GRCh37	16	89724560	89724560	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	48	0	ENST00000301031.4:c.35-96G>T		p.*12*	ENST00000301031	NM_001271908.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10983.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGCTTAT	NONE	.	.	.	.	.	ENSP00000301031	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301031	Transcript	.	.	ENSG00000167523	26463	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT33_HUMAN	SPATA33	HGNC	.	.	UPI000007159D	SNV	SPATA33,5_prime_UTR_variant,,ENST00000568929,;SPATA33,intron_variant,,ENST00000301031,;SPATA33,intron_variant,,ENST00000566204,;SPATA33,intron_variant,,ENST00000579310,;SPATA33,intron_variant,,ENST00000564238,;CHMP1A,upstream_gene_variant,,ENST00000397901,;CHMP1A,upstream_gene_variant,,ENST00000550102,;CHMP1A,upstream_gene_variant,,ENST00000535997,;CHMP1A,upstream_gene_variant,,ENST00000253475,;SPATA33,upstream_gene_variant,,ENST00000566857,;CHMP1A,upstream_gene_variant,,ENST00000547614,;SPATA33,3_prime_UTR_variant,,ENST00000565890,;SPATA33,intron_variant,,ENST00000567827,;SPATA33,intron_variant,,ENST00000457689,;CHMP1A,upstream_gene_variant,,ENST00000549328,;CHMP1A,upstream_gene_variant,,ENST00000550872,;CHMP1A,upstream_gene_variant,,ENST00000551981,;	.	48	29	SUCCESS
LMF1	64788	.	GRCh37	16	904604	904604	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201312320	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	34	0	ENST00000262301.11:c.1632C>A	p.Phe544Leu	p.F544L	ENST00000262301	NM_022773.2	544	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS45373.1	1632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGAAGTA	NONE	byCluster	.	hmmpanther:PTHR14463,Pfam_domain:PF06762	.	.	ENSP00000262301	.	11/11	.	.	.	.	.	.	.	.	rs201312320	11/11	PASS	ENST00000262301	Transcript	.	.	ENSG00000103227	14154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.57)	.	LMF1_HUMAN	LMF1	HGNC	H3BVI4_HUMAN,H3BN37_HUMAN,B3KS80_HUMAN	.	UPI000006E366	SNV	LMF1,missense_variant,p.Phe307Leu,ENST00000543238,;LMF1,missense_variant,p.Phe327Leu,ENST00000568897,;LMF1,missense_variant,p.Phe544Leu,ENST00000399843,;LMF1,missense_variant,p.Phe544Leu,ENST00000262301,;LMF1,3_prime_UTR_variant,,ENST00000545827,;LMF1,3_prime_UTR_variant,,ENST00000565276,;LMF1,non_coding_transcript_exon_variant,,ENST00000569516,;	1651	34	31	SUCCESS
YWHAE	7531	.	GRCh37	17	1264424	1264424	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs148760302	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	32	99	0	ENST00000264335.8:c.540C>A	p.Phe180Leu	p.F180L	ENST00000264335	NM_006761.4	180	ttC/ttA	0	A:0	.	.	.	.	T	F/L	protein_coding	YES	CCDS11001.1	540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAGAATAC	NONE	byCluster	.	Prints_domain:PR00305,Superfamily_domains:SSF48445,PIRSF_domain:PIRSF000868,SMART_domains:SM00101,Gene3D:3iquA00,Pfam_domain:PF00244,hmmpanther:PTHR18860	.	A:0.0001	ENSP00000264335	.	4/6	.	.	.	.	.	.	.	.	rs148760302	4/6	PASS	ENST00000264335	Transcript	.	.	ENSG00000108953	12851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	1433E_HUMAN	YWHAE	HGNC	B7ZA86_HUMAN	.	UPI0000021A46	SNV	YWHAE,missense_variant,p.Phe180Leu,ENST00000264335,;YWHAE,missense_variant,p.Phe158Leu,ENST00000571732,;YWHAE,missense_variant,p.Phe55Leu,ENST00000496706,;YWHAE,intron_variant,,ENST00000575977,;YWHAE,intron_variant,,ENST00000573026,;YWHAE,intron_variant,,ENST00000466227,;YWHAE,intron_variant,,ENST00000573196,;YWHAE,downstream_gene_variant,,ENST00000489287,;YWHAE,downstream_gene_variant,,ENST00000486241,;YWHAE,downstream_gene_variant,,ENST00000469398,;	808	99	46	SUCCESS
GGNBP2	79893	.	GRCh37	17	34935776	34935776	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	36	110	0	ENST00000304718.4:c.947A>T	p.Lys316Met	p.K316M	ENST00000304718	NM_024835.4	316	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS11314.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAGCTAC	NONE	.	.	hmmpanther:PTHR13601	.	.	ENSP00000307617	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000304718	Transcript	.	.	ENSG00000005955	19357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	GGNB2_HUMAN	GGNBP2	HGNC	K7ELA8_HUMAN,B4DWN7_HUMAN	.	UPI00000728CB	SNV	GGNBP2,missense_variant,p.Lys316Met,ENST00000304718,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000486208,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000495023,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000483256,;CTB-75G16.1,upstream_gene_variant,,ENST00000414616,;CTB-75G16.1,upstream_gene_variant,,ENST00000486628,;	1263	110	188	SUCCESS
KRTAP4-2	85291	.	GRCh37	17	39334360	39334360	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	36	107	0	ENST00000377726.2:c.57C>G	p.Asn19Lys	p.N19K	ENST00000377726	NM_033062.3	19	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS11384.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGTTCTC	NONE	.	.	Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF43	.	.	ENSP00000366955	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377726	Transcript	.	.	ENSG00000244537	18900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	KRA42_HUMAN	KRTAP4-2	HGNC	.	.	UPI0000246F2E	SNV	KRTAP4-2,missense_variant,p.Asn19Lys,ENST00000377726,;	101	107	134	SUCCESS
KRTAP4-1	85285	.	GRCh37	17	39341295	39341295	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	334	81	299	0	ENST00000398472.1:c.-189T>A		p.*63*	ENST00000398472				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATATCTGT	NONE	.	.	.	.	.	ENSP00000381489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000398472	Transcript	.	.	ENSG00000198443	18907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA41_HUMAN	KRTAP4-1	HGNC	.	.	UPI0000246F4A	SNV	KRTAP4-1,5_prime_UTR_variant,,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000398470,;KRTAP9-1,upstream_gene_variant,,ENST00000318329,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;	300	299	416	SUCCESS
BECN1	8678	.	GRCh37	17	40962923	40962923	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767022425	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	30	43	0	ENST00000361523.4:c.1208T>C	p.Ile403Thr	p.I403T	ENST00000361523	NM_003766.3	403	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11441.1	1208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAATCTTG	NONE	.	.	Pfam_domain:PF04111,hmmpanther:PTHR12768:SF6,hmmpanther:PTHR12768	.	.	ENSP00000355231	.	12/12	.	.	.	.	.	.	.	.	rs767022425	12/12	PASS	ENST00000361523	Transcript	.	.	ENSG00000126581	1034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	BECN1_HUMAN	BECN1	HGNC	K7EQQ7_HUMAN,K7EPZ0_HUMAN,B4DS82_HUMAN	.	UPI0000126837	SNV	BECN1,missense_variant,p.Ile85Thr,ENST00000589663,;BECN1,missense_variant,p.Ile403Thr,ENST00000590099,;BECN1,missense_variant,p.Ile59Thr,ENST00000588276,;BECN1,missense_variant,p.Ile403Thr,ENST00000361523,;BECN1,synonymous_variant,p.%3D,ENST00000586589,;BECN1,synonymous_variant,p.%3D,ENST00000590764,;BECN1,synonymous_variant,p.%3D,ENST00000438274,;CNTD1,downstream_gene_variant,,ENST00000586652,;CNTD1,downstream_gene_variant,,ENST00000585355,;CNTD1,downstream_gene_variant,,ENST00000588527,;BECN1,downstream_gene_variant,,ENST00000593205,;BECN1,downstream_gene_variant,,ENST00000586754,;CNTD1,downstream_gene_variant,,ENST00000588408,;BECN1,downstream_gene_variant,,ENST00000590852,;CNTD1,non_coding_transcript_exon_variant,,ENST00000315066,;BECN1,3_prime_UTR_variant,,ENST00000587880,;BECN1,non_coding_transcript_exon_variant,,ENST00000590185,;BECN1,non_coding_transcript_exon_variant,,ENST00000543382,;BECN1,downstream_gene_variant,,ENST00000589492,;BECN1,downstream_gene_variant,,ENST00000589493,;CNTD1,downstream_gene_variant,,ENST00000592166,;	1341	43	44	SUCCESS
TP53	7157	.	GRCh37	17	7578525	7578525	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	16	34	0	ENST00000269305.4:c.405C>A	p.Cys135Ter	p.C135*	ENST00000269305	NM_001126112.2	135	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS11118.1	405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGCAAAA	SITE|p.C135*|c.405C>A|8,CODON|p.0?|c.1_1182del1182|6,CODON|p.C3W|c.9C>G|4,CODON|p.C42W|c.126C>G|3,CODON|p.C135W|c.405C>G|3,CODON|p.C135W|c.405C>G|3,CODON|p.C135C|c.405C>T|5,CODON|p.C135W|c.405C>G|24,CODON|p.C135F|c.404G>T|6,CODON|p.C3S|c.8G>C|3,CODON|p.C135S|c.404G>C|3,CODON|p.C3F|c.8G>T|13,CODON|p.C135S|c.404G>C|3,CODON|p.C42F|c.125G>T|13,CODON|p.C42S|c.125G>C|3,CODON|p.C135F|c.404G>T|6,CODON|p.C135Y|c.404G>A|8,CODON|p.C135Y|c.404G>A|54,CODON|p.C135S|c.404G>C|9,CODON|p.C135Y|c.404G>A|3,CODON|p.C42Y|c.125G>A|8,CODON|p.C135Y|c.404G>A|3,CODON|p.C135F|c.404G>T|13,CODON|p.C135F|c.404G>T|13,CODON|p.C135F|c.404G>T|49,CODON|p.C135Y|c.404G>A|8,CODON|p.C3Y|c.8G>A|8,CODON|p.C135fs*35|c.403delT|5,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139*|c.415A>T|5,BUFFER|p.K7*|c.19A>T|3,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139E|c.415A>G|4,BUFFER|p.K46*|c.136A>T|3,BUFFER|p.A138fs*32|c.412delG|5,BUFFER|p.A138V|c.413C>T|4,BUFFER|p.A138V|c.413C>T|4,BUFFER|p.A6V|c.17C>T|4,BUFFER|p.A45V|c.134C>T|4,BUFFER|p.A138V|c.413C>T|21,BUFFER|p.A138P|c.412G>C|14,BUFFER|p.A138T|c.412G>A|5,BUFFER|p.A138fs*11|c.411_412insN|3,BUFFER|p.L137L|c.411G>A|3,BUFFER|p.L137P|c.410T>C|3,BUFFER|p.L137Q|c.410T>A|3,BUFFER|p.Q136H|c.408A>C|5,BUFFER|p.Q136Q|c.408A>G|4,BUFFER|p.Q136P|c.407A>C|3,BUFFER|p.Q136E|c.406C>G|9,BUFFER|p.Q136*|c.406C>T|35,BUFFER|p.Q4*|c.10C>T|5,BUFFER|p.Q136E|c.406C>G|6,BUFFER|p.Q43*|c.127C>T|5,BUFFER|p.Q4E|c.10C>G|6,BUFFER|p.Q136E|c.406C>G|6,BUFFER|p.Q136E|c.406C>G|4,BUFFER|p.Q136E|c.406C>G|5,BUFFER|p.Q43E|c.127C>G|6,BUFFER|p.Q136*|c.406C>T|5,BUFFER|p.Q136*|c.406C>T|5,BUFFER|p.Q136*|c.406C>T|3,BUFFER|p.C135G|c.403T>G|8,BUFFER|p.C135S|c.403T>A|4,BUFFER|p.C135R|c.403T>C|11,BUFFER|p.C135fs*35|c.400delT|6,BUFFER|p.F134S|c.401T>C|4,BUFFER|p.F134C|c.401T>G|9,BUFFER|p.F134V|c.400T>G|11,BUFFER|p.F41L|c.121T>C|4,BUFFER|p.F134L|c.400T>C|3,BUFFER|p.F134L|c.400T>C|4,BUFFER|p.F2L|c.4T>C|4,BUFFER|p.F134L|c.400T>C|4,BUFFER|p.F134L|c.400T>C|18,BUFFER|p.M133T|c.398T>C|5,BUFFER|p.M133T|c.398T>C|3,BUFFER|p.M133T|c.398T>C|3,BUFFER|p.M133R|c.398T>G|3,BUFFER|p.M133T|c.398T>C|3,BUFFER|p.M40T|c.119T>C|3,BUFFER|p.M1T|c.2T>C|3,BUFFER|p.M1R|c.2T>G|3,BUFFER|p.M133R|c.398T>G|7,BUFFER|p.M133K|c.398T>A|12,BUFFER|p.M133R|c.398T>G|3,BUFFER|p.M40R|c.119T>G|3,BUFFER|p.Y126_K132delYSPALNK|c.376_396del21|6,BUFFER|p.K132N|c.396G>C|29,BUFFER|p.K132N|c.396G>T|3,BUFFER|p.K132N|c.396G>C|5,BUFFER|p.K132N|c.396G>T|6,BUFFER|p.K39N|c.117G>C|5,BUFFER|p.K132N|c.396G>T|24,BUFFER|p.K132N|c.396G>C|5,BUFFER|p.K132N|c.396G>T|6,BUFFER|p.K39N|c.117G>T|6,BUFFER|p.N131delN|c.393_395delCAA|4,BUFFER|p.K132R|c.395A>G|5,BUFFER|p.K132T|c.395A>C|7,BUFFER|p.K39T|c.116A>C|3,BUFFER|p.K132R|c.395A>G|39,BUFFER|p.K132M|c.395A>T|10,BUFFER|p.K132T|c.395A>C|3,BUFFER|p.K132R|c.395A>G|3,BUFFER|p.K132R|c.395A>G|7,BUFFER|p.K132T|c.395A>C|3,BUFFER|p.K132R|c.395A>G|7,BUFFER|p.K39R|c.116A>G|7,BUFFER|p.K132Q|c.394A>C|13,BUFFER|p.K39E|c.115A>G|3,BUFFER|p.K132*|c.394A>T|5,BUFFER|p.K132E|c.394A>G|3,BUFFER|p.K132E|c.394A>G|3,BUFFER|p.K132E|c.394A>G|19,BUFFER|p.Y126_N131delYSPALN|c.376_393del18|3,BUFFER|p.N131delN|c.391_393delAAC|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	TP53_g.12393C>G,TP53_g.12393del,TP53_g.12393C>T,TP53_g.12393C>A,COSM44319,COSM43704,COSM44219,COSM437601,COSM437602,COSM437604,COSM1640866,COSM437603	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Cys135Ter,ENST00000508793,;TP53,stop_gained,p.Cys135Ter,ENST00000413465,;TP53,stop_gained,p.Cys128Ter,ENST00000604348,;TP53,stop_gained,p.Cys135Ter,ENST00000420246,;TP53,stop_gained,p.Cys135Ter,ENST00000269305,;TP53,stop_gained,p.Cys3Ter,ENST00000509690,;TP53,stop_gained,p.Cys135Ter,ENST00000359597,;TP53,stop_gained,p.Cys42Ter,ENST00000514944,;TP53,stop_gained,p.Cys135Ter,ENST00000445888,;TP53,stop_gained,p.Cys135Ter,ENST00000455263,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	595	34	22	SUCCESS
DSEL	92126	.	GRCh37	18	65178248	65178248	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1219183760	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	32	135	0	ENST00000310045.7:c.3628A>T	p.Thr1210Ser	p.T1210S	ENST00000310045	NM_032160.2	1210	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS11995.1	3628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTCCAGC	NONE	.	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.88)	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Thr1210Ser,ENST00000310045,;CTD-2541J13.2,intron_variant,,ENST00000583493,;CTD-2541J13.2,intron_variant,,ENST00000581951,;	5102	135	97	SUCCESS
PTPRM	5797	.	GRCh37	18	7906552	7906552	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	52	194	0	ENST00000332175.8:c.518A>C	p.Asp173Ala	p.D173A	ENST00000332175	NM_002845.3	173	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS58613.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCGATGAGG	NONE	.	.	Prints_domain:PR00020,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50060	.	.	ENSP00000463325	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.05)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.Asp173Ala,ENST00000332175,;PTPRM,missense_variant,p.Asp111Ala,ENST00000400053,;PTPRM,missense_variant,p.Asp173Ala,ENST00000400060,;PTPRM,missense_variant,p.Asp173Ala,ENST00000580170,;	1555	194	159	SUCCESS
BRD4	23476	.	GRCh37	19	15367957	15367957	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	26	0	ENST00000263377.2:c.1369A>T	p.Met457Leu	p.M457L	ENST00000263377	NM_058243.2	457	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS12328.1	1369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCATCTTGG	NONE	.	.	Superfamily_domains:SSF47370,SMART_domains:SM00297,Gene3D:1.20.920.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143	.	.	ENSP00000263377	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,missense_variant,p.Met457Leu,ENST00000594841,;BRD4,missense_variant,p.Met457Leu,ENST00000371835,;BRD4,missense_variant,p.Met457Leu,ENST00000263377,;BRD4,missense_variant,p.Met457Leu,ENST00000360016,;BRD4,non_coding_transcript_exon_variant,,ENST00000602230,;BRD4,non_coding_transcript_exon_variant,,ENST00000594842,;BRD4,upstream_gene_variant,,ENST00000595926,;	1591	26	24	SUCCESS
LGALS4	3960	.	GRCh37	19	39297124	39297124	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760505571	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	84	0	ENST00000307751.4:c.451G>A	p.Gly151Arg	p.G151R	ENST00000307751	NM_006149.3	151	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12521.1	451	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCGATGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF32,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000302100	.	4/10	.	.	.	.	.	.	.	.	rs760505571,COSM996147	4/10	PASS	ENST00000307751	Transcript	.	.	ENSG00000171747	6565	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.993)	.	deleterious(0)	0,1	LEG4_HUMAN	LGALS4	HGNC	Q6FHZ4_HUMAN,M0R349_HUMAN	.	UPI0000001651	SNV	LGALS4,missense_variant,p.Gly59Arg,ENST00000600070,;LGALS4,missense_variant,p.Gly151Arg,ENST00000307751,;LGALS4,downstream_gene_variant,,ENST00000594209,;LGALS4,non_coding_transcript_exon_variant,,ENST00000597803,;LGALS4,synonymous_variant,p.%3D,ENST00000595291,;LGALS4,non_coding_transcript_exon_variant,,ENST00000595278,;LGALS4,non_coding_transcript_exon_variant,,ENST00000597153,;LGALS4,non_coding_transcript_exon_variant,,ENST00000596628,;LGALS4,upstream_gene_variant,,ENST00000595342,;	929	84	72	SUCCESS
CEACAM5	1048	.	GRCh37	19	42224926	42224926	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	67	180	0	ENST00000221992.6:c.1856C>T	p.Ser619Phe	p.S619F	ENST00000221992	NM_004363.2	619	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS12584.1	1856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCTAACC	NONE	.	.	PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000221992	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000221992	Transcript	.	.	ENSG00000105388	1817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	CEAM5_HUMAN	CEACAM5	HGNC	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI000013C7E5	SNV	CEACAM5,missense_variant,p.Ser619Phe,ENST00000221992,;CEACAM5,missense_variant,p.Ser618Phe,ENST00000398599,;CEACAM5,missense_variant,p.Ser619Phe,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000595403,;	1970	180	152	SUCCESS
ZNF226	7769	.	GRCh37	19	44681511	44681511	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1484884127	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	44	110	0	ENST00000337433.5:c.2096A>G	p.Tyr699Cys	p.Y699C	ENST00000337433	NM_001032373.1	699	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46102.1	2096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATATAAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000465121	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,missense_variant,p.Tyr699Cys,ENST00000590089,;ZNF226,missense_variant,p.Tyr699Cys,ENST00000337433,;ZNF226,missense_variant,p.Tyr699Cys,ENST00000454662,;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000413984,;ZNF226,downstream_gene_variant,,ENST00000588742,;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000300823,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590759,;	2463	110	86	SUCCESS
QPCTL	54814	.	GRCh37	19	46206190	46206190	+	synonymous_variant	Silent	SNP	G	G	A	rs138046208	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	84	0	ENST00000012049.5:c.1032G>A	p.Thr344=	p.T344=	ENST00000012049	NM_017659.3	344	acG/acA	0	A:0.0002	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS12672.1	1032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGCCCTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF3,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	A:0	A:0.0003	ENSP00000012049	A:0	7/7	.	.	.	.	.	.	.	.	rs138046208	7/7	common_in_exac	ENST00000012049	Transcript	.	A:0.0016	ENSG00000011478	25952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0082	.	.	QPCTL_HUMAN	QPCTL	HGNC	.	.	UPI000013C51F	SNV	QPCTL,synonymous_variant,p.%3D,ENST00000366382,;QPCTL,synonymous_variant,p.%3D,ENST00000012049,;QPCTL,downstream_gene_variant,,ENST00000592769,;QPCTL,downstream_gene_variant,,ENST00000591606,;	1253	84	67	SUCCESS
KIR2DL3	3804	.	GRCh37	19	55253485	55253485	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	33	31	0	ENST00000342376.3:c.130A>G	p.Thr44Ala	p.T44A	ENST00000342376	NM_015868.2	44	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33107.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGACAGTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000342215	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342376	Transcript	.	.	ENSG00000243772	6331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.09)	.	KI2L3_HUMAN	KIR2DL3	HGNC	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN	.	UPI000012DB1C	SNV	KIR2DL3,missense_variant,p.Thr44Ala,ENST00000342376,;KIR2DL3,missense_variant,p.Thr44Ala,ENST00000434419,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;CTB-61M7.1,intron_variant,,ENST00000400864,;	161	31	35	SUCCESS
HRNR	388697	.	GRCh37	1	152191055	152191055	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs765947560	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	22	177	0	ENST00000368801.2:c.3050G>C	p.Gly1017Ala	p.G1017A	ENST00000368801	NM_001009931.2	1017	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS30859.1	3050	MUTECT|MUSE|VARSCANS	.	CGGAACCAGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	rs765947560	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Gly1017Ala,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	3126	177	261	SUCCESS
FLG	2312	.	GRCh37	1	152279315	152279315	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs978966210	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	43	157	0	ENST00000368799.1:c.8047G>A	p.Gly2683Arg	p.G2683R	ENST00000368799	NM_002016.1	2683	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS30860.1	8047	RADIA|MUSE|VARSCANS	.	GTGTCCACTGT	NONE	.	.	Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.878)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gly2683Arg,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8083	157	265	SUCCESS
LCE6A	448835	.	GRCh37	1	152816050	152816050	+	synonymous_variant	Silent	SNP	C	C	T	rs1383628188	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	43	153	0	ENST00000431011.2:c.54C>T	p.Ser18=	p.S18=	ENST00000431011	NM_001128600.1	18	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS44227.1	54	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCCCTCC	NONE	.	.	.	.	.	ENSP00000411070	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431011	Transcript	.	.	ENSG00000235942	31824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE6A_HUMAN	LCE6A	HGNC	.	.	UPI0000D83229	SNV	LCE6A,synonymous_variant,p.%3D,ENST00000431011,;	219	153	204	SUCCESS
GON4L	54856	.	GRCh37	1	155823310	155823310	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1571954465	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	334	31	179	0	ENST00000368331.1:c.262A>C	p.Asn88His	p.N88H	ENST00000368331	NM_001037533.1	88	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS44242.1	262	MUTECT|MUSE|VARSCANS	.	TACATTTGTGT	NONE	.	.	.	.	.	ENSP00000396117	.	2/32	.	.	.	.	.	.	.	.	.	2/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.04)	.	tolerated_low_confidence(0.13)	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,missense_variant,p.Asn88His,ENST00000437809,;GON4L,missense_variant,p.Asn88His,ENST00000361040,;GON4L,missense_variant,p.Asn88His,ENST00000368331,;GON4L,missense_variant,p.Asn88His,ENST00000271883,;GON4L,non_coding_transcript_exon_variant,,ENST00000488251,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,upstream_gene_variant,,ENST00000468867,;	385	179	365	SUCCESS
CD1E	913	.	GRCh37	1	158326144	158326144	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	5	68	0	ENST00000368167.3:c.905-144C>A		p.*302*	ENST00000368167	NM_030893.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41417.1	.	MUTECT|MUSE	.	ACAGACAAAGG	NONE	.	.	.	.	.	ENSP00000357149	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,3_prime_UTR_variant,,ENST00000434258,;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368165,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368166,;CD1E,intron_variant,,ENST00000444681,;CD1E,intron_variant,,ENST00000368161,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368160,;CD1E,intron_variant,,ENST00000368167,;CD1E,intron_variant,,ENST00000368156,;CD1E,intron_variant,,ENST00000368164,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000452291,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	.	68	112	SUCCESS
OR6K2	81448	.	GRCh37	1	158669566	158669566	+	synonymous_variant	Silent	SNP	G	G	A	rs1553241072	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	153	186	0	ENST00000359610.2:c.877C>T	p.Leu293=	p.L293=	ENST00000359610	NM_001005279.1	293	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS30902.1	877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGGCTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,synonymous_variant,p.%3D,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	921	187	227	SUCCESS
PBX1	5087	.	GRCh37	1	164789392	164789392	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780672150	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	23	141	0	ENST00000420696.2:c.1081G>A	p.Ala361Thr	p.A361T	ENST00000420696	NM_002585.3	361	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1246.1	1081	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGCCCAG	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58	.	.	ENSP00000405890	.	7/9	.	.	.	.	.	.	.	.	rs780672150	7/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.24)	.	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,missense_variant,p.Ala361Thr,ENST00000540236,;PBX1,missense_variant,p.Ala256Thr,ENST00000560641,;PBX1,missense_variant,p.Ala361Thr,ENST00000420696,;PBX1,missense_variant,p.Ala256Thr,ENST00000540246,;PBX1,intron_variant,,ENST00000559240,;PBX1,intron_variant,,ENST00000367897,;PBX1,intron_variant,,ENST00000401534,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,non_coding_transcript_exon_variant,,ENST00000465089,;	1269	141	144	SUCCESS
TNR	7143	.	GRCh37	1	175375890	175375890	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	68	0	ENST00000263525.2:c.-40G>A		p.*14*	ENST00000263525	NM_003285.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1318.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCACACA	NONE	.	.	.	.	.	ENSP00000356646	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,5_prime_UTR_variant,,ENST00000367674,;TNR,5_prime_UTR_variant,,ENST00000263525,;TNR,upstream_gene_variant,,ENST00000422274,;	670	68	63	SUCCESS
NUP133	55746	.	GRCh37	1	229636533	229636533	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	21	38	0	ENST00000261396.3:c.483T>C	p.Ser161=	p.S161=	ENST00000261396	NM_018230.2	161	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1579.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAAGAGTA	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,synonymous_variant,p.%3D,ENST00000537506,;NUP133,synonymous_variant,p.%3D,ENST00000366678,;NUP133,synonymous_variant,p.%3D,ENST00000261396,;	575	38	97	SUCCESS
WASF2	10163	.	GRCh37	1	27734780	27734780	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	114	0	ENST00000430629.2:c.1400A>G	p.Asn467Ser	p.N467S	ENST00000430629	NM_006990.3	467	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS304.1	1400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCATTGCCC	NONE	.	.	hmmpanther:PTHR12902:SF6,hmmpanther:PTHR12902	.	.	ENSP00000396211	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000430629	Transcript	.	.	ENSG00000158195	12733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	WASF2_HUMAN	WASF2	HGNC	Q8NBU0_HUMAN,B4E3J5_HUMAN	.	UPI0000000D74	SNV	WASF2,missense_variant,p.Asn467Ser,ENST00000430629,;WASF2,3_prime_UTR_variant,,ENST00000536657,;	1616	114	81	SUCCESS
BAI2	0	.	GRCh37	1	32206014	32206014	+	synonymous_variant	Silent	SNP	G	G	A	rs750994877	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	83	0	ENST00000373658.3:c.1923C>T	p.Asp641=	p.D641=	ENST00000373658	NM_001703.2	641	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS346.2	1923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGTCCAC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41,Pfam_domain:PF12003,Prints_domain:PR01694	.	.	ENSP00000362762	.	12/33	.	.	.	.	.	.	.	.	rs750994877	12/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,synonymous_variant,p.%3D,ENST00000373658,;BAI2,synonymous_variant,p.%3D,ENST00000398547,;BAI2,synonymous_variant,p.%3D,ENST00000420125,;BAI2,synonymous_variant,p.%3D,ENST00000398542,;BAI2,synonymous_variant,p.%3D,ENST00000373655,;BAI2,synonymous_variant,p.%3D,ENST00000440175,;BAI2,synonymous_variant,p.%3D,ENST00000398538,;BAI2,synonymous_variant,p.%3D,ENST00000527361,;BAI2,synonymous_variant,p.%3D,ENST00000257070,;BAI2,synonymous_variant,p.%3D,ENST00000398556,;BAI2,downstream_gene_variant,,ENST00000533175,;BAI2,intron_variant,,ENST00000530134,;BAI2,downstream_gene_variant,,ENST00000473952,;BAI2,upstream_gene_variant,,ENST00000484002,;BAI2,upstream_gene_variant,,ENST00000465256,;BAI2,downstream_gene_variant,,ENST00000468430,;BAI2,upstream_gene_variant,,ENST00000466109,;BAI2,upstream_gene_variant,,ENST00000525655,;	2265	83	60	SUCCESS
NRD1	0	.	GRCh37	1	52272522	52272522	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	77	274	0	ENST00000354831.7:c.2258A>G	p.Asn753Ser	p.N753S	ENST00000354831	NM_002525.2	753	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS559.1	2258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTATTCACA	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,Gene3D:3.30.830.10,Superfamily_domains:SSF63411	.	.	ENSP00000346890	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.6)	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,missense_variant,p.Asn753Ser,ENST00000354831,;NRD1,missense_variant,p.Asn685Ser,ENST00000352171,;NRD1,missense_variant,p.Asn553Ser,ENST00000544028,;NRD1,missense_variant,p.Asn621Ser,ENST00000539524,;NRD1,intron_variant,,ENST00000440943,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,downstream_gene_variant,,ENST00000483007,;	2448	274	200	SUCCESS
RAVER2	55225	.	GRCh37	1	65280433	65280433	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	55	1	ENST00000294428.3:c.1839C>T	p.Ser613=	p.S613=	ENST00000294428		613	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41345.1	1800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCATTCT	NONE	.	.	hmmpanther:PTHR23189:SF6,hmmpanther:PTHR23189	.	.	ENSP00000360112	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000371072	Transcript	.	.	ENSG00000162437	25577	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAVR2_HUMAN	RAVER2	HGNC	.	.	UPI000043DED2	SNV	RAVER2,synonymous_variant,p.%3D,ENST00000294428,;RAVER2,synonymous_variant,p.%3D,ENST00000430964,;RAVER2,synonymous_variant,p.%3D,ENST00000371072,;RAVER2,3_prime_UTR_variant,,ENST00000418058,;	1878	56	45	SUCCESS
ODF2L	57489	.	GRCh37	1	86814445	86814445	+	synonymous_variant	Silent	SNP	T	T	G	rs772106732	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	66	206	1	ENST00000317336.7:c.2010A>C	p.Thr670=	p.T670=	ENST00000317336	NM_001184765.1	670	acA/acC	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41354.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATTGTTAC	NONE	.	.	.	.	.	ENSP00000359600	.	18/18	.	.	.	.	.	.	.	.	rs772106732	18/18	PASS	ENST00000359242	Transcript	.	.	ENSG00000122417	29225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODF2L_HUMAN	ODF2L	HGNC	B5ME44_HUMAN	.	UPI00001C1D6A	SNV	ODF2L,synonymous_variant,p.%3D,ENST00000394731,;ODF2L,synonymous_variant,p.%3D,ENST00000370566,;ODF2L,synonymous_variant,p.%3D,ENST00000460698,;ODF2L,synonymous_variant,p.%3D,ENST00000317336,;ODF2L,synonymous_variant,p.%3D,ENST00000370567,;ODF2L,3_prime_UTR_variant,,ENST00000359242,;ODF2L,downstream_gene_variant,,ENST00000294678,;ODF2L,downstream_gene_variant,,ENST00000462648,;ODF2L,downstream_gene_variant,,ENST00000531412,;ODF2L,downstream_gene_variant,,ENST00000473792,;ODF2L,downstream_gene_variant,,ENST00000476054,;	5622	207	164	SUCCESS
RBM39	9584	.	GRCh37	20	34312495	34312495	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	68	90	0	ENST00000253363.6:c.684A>G	p.Ser228=	p.S228=	ENST00000253363		228	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS13266.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTGATGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF301,TIGRFAM_domain:TIGR01622,Gene3D:3.30.70.330	.	.	ENSP00000253363	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000253363	Transcript	.	.	ENSG00000131051	15923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM39_HUMAN	RBM39	HGNC	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN	.	UPI0000134418	SNV	RBM39,synonymous_variant,p.%3D,ENST00000528062,;RBM39,synonymous_variant,p.%3D,ENST00000361162,;RBM39,synonymous_variant,p.%3D,ENST00000448303,;RBM39,synonymous_variant,p.%3D,ENST00000253363,;RBM39,synonymous_variant,p.%3D,ENST00000374038,;RBM39,synonymous_variant,p.%3D,ENST00000407261,;RBM39,downstream_gene_variant,,ENST00000434927,;RBM39,non_coding_transcript_exon_variant,,ENST00000494274,;RBM39,synonymous_variant,p.%3D,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000412738,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000490484,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,downstream_gene_variant,,ENST00000455343,;RBM39,downstream_gene_variant,,ENST00000481037,;RBM39,downstream_gene_variant,,ENST00000416108,;RBM39,downstream_gene_variant,,ENST00000425184,;	708	90	115	SUCCESS
GTSF1L	149699	.	GRCh37	20	42355239	42355239	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	35	100	0	ENST00000373003.1:c.96G>C	p.Lys32Asn	p.K32N	ENST00000373003	NM_176791.3	32	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS13323.1	96	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTCTTTCT	NONE	.	.	hmmpanther:PTHR21402:SF3,hmmpanther:PTHR21402,Superfamily_domains:SSF57667	.	.	ENSP00000362094	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373003	Transcript	.	.	ENSG00000124196	16198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	GTSFL_HUMAN	GTSF1L	HGNC	.	.	UPI00001285E6	SNV	GTSF1L,missense_variant,p.Lys32Asn,ENST00000373003,;GTSF1L,missense_variant,p.Lys32Asn,ENST00000373005,;	400	100	140	SUCCESS
NFATC2	4773	.	GRCh37	20	50048694	50048694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	9	159	0	ENST00000396009.3:c.2632G>A	p.Gly878Arg	p.G878R	ENST00000396009	NM_001258297.1	878	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13437.1	2632	MUTECT|MUSE	.	GGGTCCGTTTT	NONE	.	.	hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	tolerated(0.22)	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,missense_variant,p.Gly878Arg,ENST00000396009,;NFATC2,missense_variant,p.Gly858Arg,ENST00000609943,;NFATC2,missense_variant,p.Gly878Arg,ENST00000371564,;NFATC2,missense_variant,p.Gly659Arg,ENST00000609507,;NFATC2,missense_variant,p.Gly659Arg,ENST00000610033,;NFATC2,missense_variant,p.Gly858Arg,ENST00000414705,;	2852	159	143	SUCCESS
STX16	8675	.	GRCh37	20	57251326	57251326	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	51	188	0	ENST00000371141.4:c.957C>T	p.Leu319=	p.L319=	ENST00000371141	NM_001001433.2	319	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13468.1	957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCGTTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957	.	.	ENSP00000360183	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,synonymous_variant,p.%3D,ENST00000355957,;STX16,synonymous_variant,p.%3D,ENST00000371132,;STX16,synonymous_variant,p.%3D,ENST00000371141,;STX16,synonymous_variant,p.%3D,ENST00000358029,;STX16,synonymous_variant,p.%3D,ENST00000438253,;STX16,synonymous_variant,p.%3D,ENST00000359617,;STX16,synonymous_variant,p.%3D,ENST00000361770,;STX16,synonymous_variant,p.%3D,ENST00000361830,;STX16,downstream_gene_variant,,ENST00000312283,;STX16,non_coding_transcript_exon_variant,,ENST00000490700,;STX16,downstream_gene_variant,,ENST00000496003,;STX16,downstream_gene_variant,,ENST00000468590,;STX16,3_prime_UTR_variant,,ENST00000467096,;STX16,3_prime_UTR_variant,,ENST00000483434,;STX16,3_prime_UTR_variant,,ENST00000476384,;STX16-NPEPL1,intron_variant,,ENST00000530122,;STX16-NPEPL1,intron_variant,,ENST00000413559,;STX16,downstream_gene_variant,,ENST00000464640,;STX16,downstream_gene_variant,,ENST00000493301,;	1681	188	194	SUCCESS
HRH3	11255	.	GRCh37	20	60791849	60791849	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	65	0	ENST00000340177.5:c.551C>G	p.Pro184Arg	p.P184R	ENST00000340177	NM_007232.2	184	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS13493.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGGGGATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF242,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01471	.	.	ENSP00000342560	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340177	Transcript	.	.	ENSG00000101180	5184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	HRH3_HUMAN	HRH3	HGNC	.	.	UPI000012C6ED	SNV	HRH3,missense_variant,p.Pro184Arg,ENST00000317393,;HRH3,missense_variant,p.Pro184Arg,ENST00000340177,;	836	65	58	SUCCESS
PLCB1	23236	.	GRCh37	20	8698371	8698371	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	67	0	ENST00000338037.6:c.1389G>T	p.Leu463Phe	p.L463F	ENST00000338037	NM_015192.3	463	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS13102.1	1389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGGTGAA	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000338185	.	14/32	.	.	.	.	.	.	.	.	.	14/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Leu463Phe,ENST00000378641,;PLCB1,missense_variant,p.Leu463Phe,ENST00000338037,;PLCB1,missense_variant,p.Leu463Phe,ENST00000378637,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Leu204Phe,ENST00000487210,;	1416	67	45	SUCCESS
BRWD1	54014	.	GRCh37	21	40627715	40627715	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	83	0	ENST00000333229.2:c.2111A>G	p.Asn704Ser	p.N704S	ENST00000333229	NM_018963.4	704	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13662.1	2111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATATTTGGA	NONE	.	.	hmmpanther:PTHR16266:SF26,hmmpanther:PTHR16266	.	.	ENSP00000330753	.	19/42	.	.	.	.	.	.	.	.	.	19/42	PASS	ENST00000333229	Transcript	.	.	ENSG00000185658	12760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(0.06)	.	BRWD1_HUMAN	BRWD1	HGNC	.	.	UPI0000163C12	SNV	BRWD1,missense_variant,p.Asn416Ser,ENST00000455867,;BRWD1,missense_variant,p.Asn704Ser,ENST00000342449,;BRWD1,missense_variant,p.Asn704Ser,ENST00000380800,;BRWD1,missense_variant,p.Asn704Ser,ENST00000333229,;BRWD1,missense_variant,p.Asn168Ser,ENST00000446924,;BRWD1,missense_variant,p.Asn416Ser,ENST00000412604,;BRWD1,3_prime_UTR_variant,,ENST00000445245,;BRWD1,3_prime_UTR_variant,,ENST00000430093,;BRWD1,intron_variant,,ENST00000445668,;	2439	83	29	SUCCESS
PRDM15	63977	.	GRCh37	21	43241421	43241421	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	71	1	ENST00000269844.3:c.3158+2T>G		p.X1053_splice	ENST00000269844	NM_022115.3	1053		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13676.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCACTTCT	NONE	.	.	.	.	.	ENSP00000269844	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	HIGH	23/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,splice_donor_variant,,ENST00000269844,;PRDM15,splice_donor_variant,,ENST00000422911,;PRDM15,splice_donor_variant,,ENST00000398548,;PRDM15,splice_donor_variant,,ENST00000447207,;PRDM15,splice_donor_variant,,ENST00000538201,;PRDM15,upstream_gene_variant,,ENST00000495217,;PRDM15,downstream_gene_variant,,ENST00000491486,;PRDM15,splice_donor_variant,,ENST00000433067,;PRDM15,splice_donor_variant,,ENST00000449395,;PRDM15,splice_donor_variant,,ENST00000447016,;PRDM15,splice_donor_variant,,ENST00000441787,;PRDM15,downstream_gene_variant,,ENST00000489661,;	.	72	28	SUCCESS
TSPEAR	54084	.	GRCh37	21	46021639	46021639	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	64	0	ENST00000323084.4:c.83-33750G>A		p.*28*	ENST00000323084	NM_001272037.1	373		0	.	.	.	.	.	T	S/F	protein_coding	YES	.	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCCAGCT	NONE	.	.	hmmpanther:PTHR23262:SF40,hmmpanther:PTHR23262	.	.	ENSP00000369445	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380102	Transcript	.	.	ENSG00000205441	22970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	KR107_HUMAN	KRTAP10-7	HGNC	.	.	UPI000036709B	SNV	KRTAP10-7,missense_variant,p.Ser373Phe,ENST00000380102,;TSPEAR,intron_variant,,ENST00000323084,;AL773602.1,non_coding_transcript_exon_variant,,ENST00000339001,;	1143	65	26	SUCCESS
CABIN1	23523	.	GRCh37	22	24564464	24564464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	91	0	ENST00000263119.5:c.5732A>G	p.His1911Arg	p.H1911R	ENST00000263119	NM_012295.3	1911	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS13823.1	5732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCATCTTG	NONE	.	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	33/37	.	.	.	.	.	.	.	.	.	33/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0.02)	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.His336Arg,ENST00000337989,;CABIN1,missense_variant,p.His1911Arg,ENST00000398319,;CABIN1,missense_variant,p.His1832Arg,ENST00000405822,;CABIN1,missense_variant,p.His1911Arg,ENST00000263119,;CABIN1,non_coding_transcript_exon_variant,,ENST00000485008,;CABIN1,downstream_gene_variant,,ENST00000495121,;	6117	91	22	SUCCESS
AP1B1	162	.	GRCh37	22	29724846	29724846	+	synonymous_variant	Silent	SNP	G	G	A	rs147684584	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	48	0	ENST00000405198.1:c.2814C>T	p.His938=	p.H938=	ENST00000405198		938	caC/caT	0	A:0.0002	A:0	.	A:0	.	A	H	protein_coding	YES	CCDS13855.1	2814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACGTGCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF12,Gene3D:3.30.310.10,Pfam_domain:PF09066,SMART_domains:SM01020,Superfamily_domains:SSF55711	A:0.001	A:0	ENSP00000350199	A:0	23/23	.	.	.	.	.	.	.	.	rs147684584	23/23	PASS	ENST00000357586	Transcript	.	A:0.0002	ENSG00000100280	554	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	AP1B1_HUMAN	AP1B1	HGNC	C9J1E7_HUMAN	.	UPI000013CED0	SNV	AP1B1,synonymous_variant,p.%3D,ENST00000356015,;AP1B1,synonymous_variant,p.%3D,ENST00000402502,;AP1B1,synonymous_variant,p.%3D,ENST00000357586,;AP1B1,synonymous_variant,p.%3D,ENST00000405198,;AP1B1,synonymous_variant,p.%3D,ENST00000432560,;AP1B1,synonymous_variant,p.%3D,ENST00000415447,;AP1B1,synonymous_variant,p.%3D,ENST00000317368,;SNORD125,downstream_gene_variant,,ENST00000459538,;AP1B1,downstream_gene_variant,,ENST00000472057,;AP1B1,non_coding_transcript_exon_variant,,ENST00000482818,;	3001	48	32	SUCCESS
POLR2F	5435	.	GRCh37	22	38363465	38363465	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	9	0	ENST00000442738.2:c.294-167A>T		p.*98*	ENST00000442738	NM_021974.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13963.1	.	MUTECT|MUSE	.	ATATAAAAACT	NONE	.	.	.	.	.	ENSP00000403852	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000442738	Transcript	.	.	ENSG00000100142	9193	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPAB2_HUMAN	POLR2F	HGNC	U3KQS8_HUMAN	.	UPI00001345E0	SNV	POLR2F,3_prime_UTR_variant,,ENST00000606538,;POLR2F,intron_variant,,ENST00000442738,;POLR2F,intron_variant,,ENST00000407936,;POLR2F,intron_variant,,ENST00000492213,;POLR2F,intron_variant,,ENST00000470701,;POLR2F,intron_variant,,ENST00000405557,;SOX10,downstream_gene_variant,,ENST00000360880,;POLR2F,downstream_gene_variant,,ENST00000488684,;POLR2F,downstream_gene_variant,,ENST00000460648,;SOX10,downstream_gene_variant,,ENST00000396884,;SOX10,downstream_gene_variant,,ENST00000446929,;POLR2F,intron_variant,,ENST00000484894,;POLR2F,intron_variant,,ENST00000443002,;POLR2F,intron_variant,,ENST00000483713,;	.	9	10	SUCCESS
PLA2R1	22925	.	GRCh37	2	160833798	160833798	+	synonymous_variant	Silent	SNP	T	T	G	rs747080622	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	40	129	1	ENST00000283243.7:c.2398A>C	p.Arg800=	p.R800=	ENST00000283243	NM_001195641.1	800	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS33309.1	2398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTTGGGA	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	15/30	.	.	.	.	.	.	.	.	rs747080622	15/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,synonymous_variant,p.%3D,ENST00000283243,;PLA2R1,synonymous_variant,p.%3D,ENST00000392771,;	2605	130	166	SUCCESS
SLC4A10	57282	.	GRCh37	2	162799343	162799343	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	33	0	ENST00000446997.1:c.2039T>G	p.Leu680Trp	p.L680W	ENST00000446997	NM_001178015.1	680	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS54411.1	2039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATTGAAGG	NONE	.	.	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	.	.	ENSP00000393066	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,missense_variant,p.Leu680Trp,ENST00000446997,;SLC4A10,missense_variant,p.Leu680Trp,ENST00000421911,;SLC4A10,missense_variant,p.Leu650Trp,ENST00000272716,;SLC4A10,missense_variant,p.Leu661Trp,ENST00000375514,;SLC4A10,missense_variant,p.Leu650Trp,ENST00000415876,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	2132	33	58	SUCCESS
TTN	7273	.	GRCh37	2	179560596	179560596	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	74	246	0	ENST00000591111.1:c.30252T>C	p.Tyr10084=	p.Y10084=	ENST00000591111		10084	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS59435.1	31203	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCATAGAC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	114/363	.	.	.	.	.	.	.	.	.	114/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000414766,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31428	246	322	SUCCESS
DNAH7	56171	.	GRCh37	2	196682482	196682482	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	39	79	0	ENST00000312428.6:c.9363A>G	p.Gln3121=	p.Q3121=	ENST00000312428	NM_018897.2	3121	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS42794.1	9363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTTGTGC	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000311273	.	50/65	.	.	.	.	.	.	.	.	.	50/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;DNAH7,non_coding_transcript_exon_variant,,ENST00000493844,;	9464	79	125	SUCCESS
APOB	338	.	GRCh37	2	21251239	21251240	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	110	39	146	0	ENST00000233242.1:c.1788dup	p.Ile597TyrfsTer53	p.I597Yfs*53	ENST00000233242	NM_000384.2	596	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1703.1	1788-1789	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAATATGGG	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642	.	.	ENSP00000233242	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.Ile597TyrfsTer53,ENST00000233242,;APOB,frameshift_variant,p.Ile597TyrfsTer53,ENST00000399256,;	1916-1917	146	149	SUCCESS
TUBA4B	80086	.	GRCh37	2	220135019	220135019	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	11	0	ENST00000490341.1:n.319G>T		p.*107*	ENST00000490341				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGAGTTC	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000490341	Transcript	.	.	ENSG00000243910	18637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TUBA4B	HGNC	.	.	.	SNV	TUBA4A,intron_variant,,ENST00000398989,;TUBA4A,intron_variant,,ENST00000427737,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000485041,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000490341,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000473885,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000486997,;	319	11	14	SUCCESS
IQCA1	79781	.	GRCh37	2	237233372	237233372	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754443986	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	60	80	0	ENST00000409907.3:c.2428G>A	p.Gly810Ser	p.G810S	ENST00000409907	NM_024726.4	810	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS46549.1	2428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCTCCTG	NONE	byFrequency	.	hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2	.	.	ENSP00000387347	.	19/19	.	.	.	.	.	.	.	.	rs754443986	19/19	PASS	ENST00000409907	Transcript	.	.	ENSG00000132321	26195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.27)	.	IQCA1_HUMAN	IQCA1	HGNC	Q53SG8_HUMAN	.	UPI000000DA5B	SNV	IQCA1,missense_variant,p.Gly807Ser,ENST00000309507,;IQCA1,missense_variant,p.Gly810Ser,ENST00000409907,;IQCA1,missense_variant,p.Gly769Ser,ENST00000431676,;IQCA1,non_coding_transcript_exon_variant,,ENST00000409100,;IQCA1,3_prime_UTR_variant,,ENST00000254653,;IQCA1,non_coding_transcript_exon_variant,,ENST00000479783,;IQCA1,non_coding_transcript_exon_variant,,ENST00000479471,;	2703	80	71	SUCCESS
CLEC4F	165530	.	GRCh37	2	71043463	71043463	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	67	204	0	ENST00000272367.2:c.1050C>T	p.Gly350=	p.G350=	ENST00000272367	NM_001258027.1	350	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1910.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACGGCCATT	NONE	.	.	hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195	.	.	ENSP00000272367	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000272367	Transcript	.	.	ENSG00000152672	25357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC4F_HUMAN	CLEC4F	HGNC	.	.	UPI0000376BCC	SNV	CLEC4F,synonymous_variant,p.%3D,ENST00000426626,;CLEC4F,synonymous_variant,p.%3D,ENST00000272367,;AC007395.4,upstream_gene_variant,,ENST00000451333,;	1127	204	173	SUCCESS
ALMS1	7840	.	GRCh37	2	73679628	73679628	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	118	0	ENST00000264448.6:c.5971C>A	p.His1991Asn	p.H1991N	ENST00000264448	NM_015120.4	1991	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS42697.1	5971	RADIA|SOMATICSNIPER|VARSCANS	.	ATTCACATAAA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.811)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.His1991Asn,ENST00000377715,;ALMS1,missense_variant,p.His1949Asn,ENST00000409009,;ALMS1,missense_variant,p.His1991Asn,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,missense_variant,p.His269Asn,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000484298,;	6082	119	94	SUCCESS
ALMS1	7840	.	GRCh37	2	73679731	73679731	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs367904732	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	132	0	ENST00000264448.6:c.6074A>G	p.Lys2025Arg	p.K2025R	ENST00000264448	NM_015120.4	2025	aAg/aGg	0	G:0	.	.	.	.	G	K/R	protein_coding	YES	CCDS42697.1	6074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAAGATTT	NONE	byCluster	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	G:0.0001	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	rs367904732	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Lys2025Arg,ENST00000377715,;ALMS1,missense_variant,p.Lys1983Arg,ENST00000409009,;ALMS1,missense_variant,p.Lys2025Arg,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,missense_variant,p.Lys303Arg,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000484298,;	6185	132	79	SUCCESS
ALMS1	7840	.	GRCh37	2	73679798	73679798	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	138	0	ENST00000264448.6:c.6141T>A	p.Tyr2047Ter	p.Y2047*	ENST00000264448	NM_015120.4	2047	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS42697.1	6141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTATTCTCA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,stop_gained,p.Tyr2047Ter,ENST00000377715,;ALMS1,stop_gained,p.Tyr2005Ter,ENST00000409009,;ALMS1,stop_gained,p.Tyr2047Ter,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,stop_gained,p.Tyr325Ter,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000484298,;	6252	138	84	SUCCESS
ASAP2	8853	.	GRCh37	2	9508603	9508603	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	82	0	ENST00000281419.3:c.1511G>A	p.Cys504Tyr	p.C504Y	ENST00000281419	NM_003887.2	504	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS1661.1	1511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGCCTAC	NONE	.	.	Superfamily_domains:SSF57863,SMART_domains:SM00105,Pfam_domain:PF01412,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,PROSITE_profiles:PS50115	.	.	ENSP00000281419	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000281419	Transcript	.	.	ENSG00000151693	2721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.674)	.	deleterious(0.02)	.	ASAP2_HUMAN	ASAP2	HGNC	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN	.	UPI0000073459	SNV	ASAP2,missense_variant,p.Cys504Tyr,ENST00000281419,;ASAP2,missense_variant,p.Cys504Tyr,ENST00000315273,;	1851	82	74	SUCCESS
ADAM17	6868	.	GRCh37	2	9630394	9630394	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs572250428	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	59	148	0	ENST00000310823.3:c.2387C>T	p.Thr796Met	p.T796M	ENST00000310823	NM_003183.4	796	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS1665.1	2387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGTGAGA	NONE	byCluster	.	.	.	.	ENSP00000309968	.	19/19	.	.	.	.	.	.	.	.	rs572250428	19/19	PASS	ENST00000310823	Transcript	.	.	ENSG00000151694	195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ADA17_HUMAN	ADAM17	HGNC	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN	.	UPI00001254D4	SNV	ADAM17,missense_variant,p.Thr796Met,ENST00000310823,;IAH1,intron_variant,,ENST00000481367,;IAH1,intron_variant,,ENST00000545602,;IAH1,downstream_gene_variant,,ENST00000481688,;IAH1,downstream_gene_variant,,ENST00000470914,;IAH1,downstream_gene_variant,,ENST00000497473,;IAH1,downstream_gene_variant,,ENST00000482918,;IAH1,downstream_gene_variant,,ENST00000487850,;IAH1,downstream_gene_variant,,ENST00000489468,;IAH1,downstream_gene_variant,,ENST00000490621,;IAH1,downstream_gene_variant,,ENST00000484826,;IAH1,downstream_gene_variant,,ENST00000351760,;IAH1,downstream_gene_variant,,ENST00000492223,;IAH1,downstream_gene_variant,,ENST00000495050,;	2570	148	128	SUCCESS
ANKRD36C	400986	.	GRCh37	2	96657281	96657281	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	39	0	ENST00000456556.1:c.176A>G	p.Asn59Ser	p.N59S	ENST00000456556		59	aAt/aGt	0	.	.	.	.	.	C	N/S	nonsense_mediated_decay	YES	.	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTATTGATG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176,Gene3D:1.25.40.20,Pfam_domain:PF13637,Superfamily_domains:SSF48403	.	.	ENSP00000431824	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000528268	Transcript	.	.	ENSG00000174501	32946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	deleterious(0)	.	.	ANKRD36C	HGNC	E9PJI0_HUMAN	.	UPI0001F78669	SNV	ANKRD36C,missense_variant,p.Asn59Ser,ENST00000456556,;ANKRD36C,missense_variant,p.Asn59Ser,ENST00000528268,;	261	39	31	SUCCESS
ANKRD36	375248	.	GRCh37	2	97869996	97869996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	56	0	ENST00000420699.2:c.3057G>T	p.Arg1019Ser	p.R1019S	ENST00000420699	NM_001164315.1	1019	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS54379.1	3057	RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGGACAGG	NONE	.	.	hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1	.	.	ENSP00000391950	.	50/76	.	.	.	.	.	.	.	.	.	50/76	PASS	ENST00000420699	Transcript	.	.	ENSG00000135976	24079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.622)	.	tolerated_low_confidence(0.1)	.	AN36A_HUMAN	ANKRD36	HGNC	.	.	UPI0001B23BB4	SNV	ANKRD36,missense_variant,p.Arg1019Ser,ENST00000461153,;ANKRD36,missense_variant,p.Arg1019Ser,ENST00000420699,;	3301	56	54	SUCCESS
PLCXD2	257068	.	GRCh37	3	111439618	111439618	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	149	0	ENST00000477665.1:c.866+6643C>G		p.*289*	ENST00000477665	NM_001185106.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54619.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCATGGG	NONE	.	.	.	.	.	ENSP00000420686	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,intron_variant,,ENST00000477665,;PLCXD2,intron_variant,,ENST00000393934,;PLCXD2,non_coding_transcript_exon_variant,,ENST00000472215,;	.	149	94	SUCCESS
PCCB	5096	.	GRCh37	3	135969390	135969390	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763949276	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	43	0	ENST00000251654.4:c.173A>G	p.Gln58Arg	p.Q58R	ENST00000251654	NM_000532.4	58	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS54643.1	173	RADIA|MUSE	.	CGCGCAGCACA	NONE	.	.	Superfamily_domains:SSF52096,Pfam_domain:PF01039,Gene3D:3.90.226.10,hmmpanther:PTHR22855:SF14,hmmpanther:PTHR22855,PROSITE_profiles:PS50980	.	.	ENSP00000419027	.	1/16	.	.	.	.	.	.	.	.	rs763949276	1/16	PASS	ENST00000469217	Transcript	.	.	ENSG00000114054	8654	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	deleterious_low_confidence(0.01)	.	PCCB_HUMAN	PCCB	HGNC	Q8WVH4_HUMAN	.	UPI000020A2DD	SNV	PCCB,missense_variant,p.Gln58Arg,ENST00000462637,;PCCB,missense_variant,p.Gln58Arg,ENST00000483687,;PCCB,missense_variant,p.Gln58Arg,ENST00000478469,;PCCB,missense_variant,p.Gln58Arg,ENST00000466072,;PCCB,missense_variant,p.Gln58Arg,ENST00000469217,;PCCB,missense_variant,p.Gln58Arg,ENST00000471595,;PCCB,missense_variant,p.Gln58Arg,ENST00000251654,;PCCB,missense_variant,p.Gln58Arg,ENST00000465423,;PCCB,missense_variant,p.Gln58Arg,ENST00000468777,;PCCB,missense_variant,p.Gln58Arg,ENST00000490504,;PCCB,intron_variant,,ENST00000482086,;PCCB,upstream_gene_variant,,ENST00000462542,;PCCB,upstream_gene_variant,,ENST00000459873,;PCCB,upstream_gene_variant,,ENST00000494742,;PCCB,non_coding_transcript_exon_variant,,ENST00000474833,;PCCB,missense_variant,p.Gln58Arg,ENST00000484181,;PCCB,upstream_gene_variant,,ENST00000475214,;	190	43	26	SUCCESS
KCNAB1	7881	.	GRCh37	3	156234115	156234115	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370046885	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	97	0	ENST00000490337.1:c.922G>A	p.Gly308Arg	p.G308R	ENST00000490337	NM_172160.2	308	Gga/Aga	0	A:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS3174.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACGGAAAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF127,TIGRFAM_domain:TIGR01293,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430,Prints_domain:PR01578	.	A:0.0001	ENSP00000419952	.	11/14	.	.	.	.	.	.	.	.	rs370046885	11/14	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.09)	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,missense_variant,p.Gly297Arg,ENST00000471742,;KCNAB1,missense_variant,p.Gly308Arg,ENST00000490337,;KCNAB1,missense_variant,p.Gly279Arg,ENST00000389636,;KCNAB1,missense_variant,p.Gly261Arg,ENST00000389634,;KCNAB1,missense_variant,p.Gly290Arg,ENST00000302490,;KCNAB1,downstream_gene_variant,,ENST00000472028,;KCNAB1,downstream_gene_variant,,ENST00000475456,;KCNAB1,non_coding_transcript_exon_variant,,ENST00000497291,;KCNAB1,downstream_gene_variant,,ENST00000461717,;KCNAB1,downstream_gene_variant,,ENST00000476362,;KCNAB1,downstream_gene_variant,,ENST00000489036,;	986	97	68	SUCCESS
TM4SF19-AS1	100874214	.	GRCh37	3	196051367	196051367	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	77	0	ENST00000452051.1:n.755G>T		p.*252*	ENST00000452051				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3316.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGGAGGG	NONE	.	.	.	.	.	ENSP00000273695	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273695	Transcript	.	.	ENSG00000145107	25167	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T4S19_HUMAN	TM4SF19	HGNC	.	.	UPI000013D9CC	SNV	TM4SF19,intron_variant,,ENST00000273695,;TM4SF19,intron_variant,,ENST00000446879,;TM4SF19,intron_variant,,ENST00000454715,;TM4SF19,upstream_gene_variant,,ENST00000440822,;TM4SF19-AS1,non_coding_transcript_exon_variant,,ENST00000452051,;TM4SF19-AS1,downstream_gene_variant,,ENST00000444939,;TM4SF19-AS1,downstream_gene_variant,,ENST00000420226,;TM4SF19,intron_variant,,ENST00000442633,;	.	77	80	SUCCESS
OXSM	54995	.	GRCh37	3	25833480	25833480	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	22	0	ENST00000280701.3:c.969T>A	p.Gly323=	p.G323=	ENST00000280701	NM_017897.2	323	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2643.1	969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTGCCTT	NONE	.	.	hmmpanther:PTHR11712,TIGRFAM_domain:TIGR03150,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901	.	.	ENSP00000280701	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000280701	Transcript	.	.	ENSG00000151093	26063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXSM_HUMAN	OXSM	HGNC	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN	.	UPI000004713F	SNV	OXSM,synonymous_variant,p.%3D,ENST00000280701,;OXSM,synonymous_variant,p.%3D,ENST00000420173,;NGLY1,upstream_gene_variant,,ENST00000417874,;OXSM,downstream_gene_variant,,ENST00000452098,;OXSM,downstream_gene_variant,,ENST00000428266,;OXSM,downstream_gene_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,3_prime_UTR_variant,,ENST00000448177,;	1068	22	16	SUCCESS
IQCF1	132141	.	GRCh37	3	51937031	51937031	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	79	282	0	ENST00000310914.5:c.78T>C	p.His26=	p.H26=	ENST00000310914	NM_152397.2	26	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS2836.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAATGGGT	NONE	.	.	hmmpanther:PTHR21633,hmmpanther:PTHR21633:SF7	.	.	ENSP00000307958	.	2/4	.	.	.	.	.	.	.	.	COSM1046761	2/4	PASS	ENST00000310914	Transcript	.	.	ENSG00000173389	28607	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IQCF1_HUMAN	IQCF1	HGNC	.	.	UPI000020AC63	SNV	IQCF1,synonymous_variant,p.%3D,ENST00000310914,;IQCF1,synonymous_variant,p.%3D,ENST00000314534,;	141	282	230	SUCCESS
PRDM5	11107	.	GRCh37	4	121737607	121737607	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	114	0	ENST00000264808.3:c.865+1G>T		p.X289_splice	ENST00000264808	NM_018699.2	289		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3716.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACCAGTG	NONE	.	.	.	.	.	ENSP00000264808	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264808	Transcript	1	.	ENSG00000138738	9349	.	.	HIGH	7/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM5_HUMAN	PRDM5	HGNC	.	.	UPI000013D572	SNV	PRDM5,splice_donor_variant,,ENST00000515109,;PRDM5,splice_donor_variant,,ENST00000428209,;PRDM5,splice_donor_variant,,ENST00000264808,;PRDM5,splice_donor_variant,,ENST00000502409,;PRDM5,splice_donor_variant,,ENST00000505484,;PRDM5,non_coding_transcript_exon_variant,,ENST00000512845,;PRDM5,upstream_gene_variant,,ENST00000503661,;PRDM5,downstream_gene_variant,,ENST00000507611,;	.	114	78	SUCCESS
RNF175	285533	.	GRCh37	4	154649420	154649420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370409419	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	78	0	ENST00000347063.4:c.340G>A	p.Val114Ile	p.V114I	ENST00000347063	NM_173662.2	114	Gtt/Att	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS47149.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAACGGAGA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13407:SF2,hmmpanther:PTHR13407	.	T:0.0001	ENSP00000340979	.	4/9	.	.	.	.	.	.	.	.	rs370409419,COSM287497,COSM241439	4/9	PASS	ENST00000347063	Transcript	.	.	ENSG00000145428	27735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.006)	.	tolerated(0.58)	0,1,1	RN175_HUMAN	RNF175	HGNC	.	.	UPI0001AE7525	SNV	RNF175,missense_variant,p.Val54Ile,ENST00000508248,;RNF175,missense_variant,p.Val114Ile,ENST00000347063,;RNF175,intron_variant,,ENST00000274068,;RP11-153M7.5,downstream_gene_variant,,ENST00000505051,;RNF175,non_coding_transcript_exon_variant,,ENST00000508967,;RNF175,intron_variant,,ENST00000506505,;RNF175,3_prime_UTR_variant,,ENST00000507512,;RNF175,3_prime_UTR_variant,,ENST00000513656,;RNF175,intron_variant,,ENST00000503694,;	713	78	59	SUCCESS
NCAPG	64151	.	GRCh37	4	17841380	17841380	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	124	0	ENST00000251496.2:c.2548T>C	p.Tyr850His	p.Y850H	ENST00000251496	NM_022346.4	850	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS3424.1	2548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCTATACA	NONE	.	.	Pfam_domain:PF12719,hmmpanther:PTHR14418,hmmpanther:PTHR14418:SF5	.	.	ENSP00000251496	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000251496	Transcript	.	.	ENSG00000109805	24304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	deleterious(0.02)	.	CND3_HUMAN	NCAPG	HGNC	.	.	UPI0000073296	SNV	NCAPG,missense_variant,p.Tyr850His,ENST00000251496,;LCORL,downstream_gene_variant,,ENST00000326877,;NCAPG,downstream_gene_variant,,ENST00000510063,;NCAPG,3_prime_UTR_variant,,ENST00000514176,;	2724	124	71	SUCCESS
GRXCR1	389207	.	GRCh37	4	42965098	42965098	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765414896	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	32	217	0	ENST00000399770.2:c.574G>T	p.Val192Phe	p.V192F	ENST00000399770	NM_001080476.2	192	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS43225.1	574	RADIA|MUTECT|MUSE	.	GACGAGTTTCT	BUFFER|p.R190Q|c.569G>A|3	byFrequency	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168,Pfam_domain:PF00462,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000382670	.	2/4	.	.	.	.	.	.	.	.	rs765414896	2/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Val192Phe,ENST00000399770,;	574	217	153	SUCCESS
GRXCR1	389207	.	GRCh37	4	42965111	42965111	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	31	218	0	ENST00000399770.2:c.587C>T	p.Pro196Leu	p.P196L	ENST00000399770	NM_001080476.2	196	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43225.1	587	RADIA|MUTECT|MUSE	.	AGCTCCTTCCC	NONE	.	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168,Pfam_domain:PF00462,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000382670	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.234)	.	tolerated(0.44)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Pro196Leu,ENST00000399770,;	587	218	148	SUCCESS
EVC2	132884	.	GRCh37	4	5578055	5578055	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1237759012	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	77	0	ENST00000344408.5:c.3184G>T	p.Gly1062Trp	p.G1062W	ENST00000344408	NM_147127.4	1062	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS3382.2	3184	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGGTT	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious(0.03)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Gly1062Trp,ENST00000344938,;EVC2,missense_variant,p.Gly982Trp,ENST00000310917,;EVC2,missense_variant,p.Gly1062Trp,ENST00000344408,;EVC2,missense_variant,p.Gly982Trp,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	3238	77	51	SUCCESS
BMP3	651	.	GRCh37	4	81967179	81967179	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	74	0	ENST00000282701.2:c.604A>G	p.Ile202Val	p.I202V	ENST00000282701	NM_001201.2	202	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3588.1	604	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAGATATCACT	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF144,Pfam_domain:PF00688,PIRSF_domain:PIRSF037403	.	.	ENSP00000282701	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000282701	Transcript	.	.	ENSG00000152785	1070	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.06)	.	BMP3_HUMAN	BMP3	HGNC	D7NU02_HUMAN,D7NT62_HUMAN	.	UPI0000051C21	SNV	BMP3,missense_variant,p.Ile202Val,ENST00000282701,;	924	74	46	SUCCESS
SLC26A1	10861	.	GRCh37	4	982779	982779	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	45	0	ENST00000361661.2:c.1948A>C	p.Ser650Arg	p.S650R	ENST00000361661	NM_213613.3	650	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS33934.1	1948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCTGCAGC	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF31,TIGRFAM_domain:TIGR00815,Pfam_domain:PF01740,Gene3D:3.30.750.24,Superfamily_domains:SSF52091	.	.	ENSP00000354721	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361661	Transcript	.	.	ENSG00000145217	10993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious(0)	.	S26A1_HUMAN	SLC26A1	HGNC	.	.	UPI000013D9D4	SNV	SLC26A1,missense_variant,p.Ser650Arg,ENST00000361661,;SLC26A1,missense_variant,p.Ser650Arg,ENST00000398516,;IDUA,intron_variant,,ENST00000504568,;SLC26A1,intron_variant,,ENST00000398520,;IDUA,intron_variant,,ENST00000453894,;IDUA,intron_variant,,ENST00000247933,;IDUA,intron_variant,,ENST00000502910,;DGKQ,upstream_gene_variant,,ENST00000510286,;IDUA,upstream_gene_variant,,ENST00000509948,;IDUA,upstream_gene_variant,,ENST00000514192,;IDUA,intron_variant,,ENST00000509744,;SLC26A1,downstream_gene_variant,,ENST00000513138,;IDUA,intron_variant,,ENST00000514698,;IDUA,intron_variant,,ENST00000508168,;IDUA,intron_variant,,ENST00000506561,;	2326	45	42	SUCCESS
SLCO4C1	353189	.	GRCh37	5	101632062	101632062	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	17	0	ENST00000310954.6:c.-96C>A		p.*32*	ENST00000310954	NM_180991.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34205.1	.	MUTECT|MUSE	.	GTGCGGGAAGC	NONE	.	.	.	.	.	ENSP00000309741	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000310954	Transcript	.	.	ENSG00000173930	23612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SO4C1_HUMAN	SLCO4C1	HGNC	Q63HP3_HUMAN	.	UPI00001C10B6	SNV	SLCO4C1,5_prime_UTR_variant,,ENST00000310954,;	192	17	23	SUCCESS
GIN1	54826	.	GRCh37	5	102440400	102440400	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	33	147	0	ENST00000399004.2:c.484A>G	p.Ile162Val	p.I162V	ENST00000399004	NM_017676.2	162	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43349.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTATAGCAT	NONE	.	.	PROSITE_profiles:PS50994,hmmpanther:PTHR24559:SF168,hmmpanther:PTHR24559,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000381970	.	4/8	.	.	.	.	.	.	.	.	COSM735172	4/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.27)	1	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,missense_variant,p.Ile162Val,ENST00000508629,;GIN1,missense_variant,p.Ile162Val,ENST00000399004,;GIN1,upstream_gene_variant,,ENST00000511400,;GIN1,3_prime_UTR_variant,,ENST00000513747,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,downstream_gene_variant,,ENST00000513603,;	579	147	159	SUCCESS
AQPEP	0	.	GRCh37	5	115329435	115329435	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	43	178	1	ENST00000357872.4:c.1261-3A>G		p.X421_splice	ENST00000357872	NM_173800.4	421		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4124.1	.	RADIA|MUSE|VARSCANS	.	TCCAAAAGTGG	NONE	.	.	.	.	.	ENSP00000350541	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	LOW	5/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,splice_region_variant,,ENST00000357872,;AQPEP,splice_region_variant,,ENST00000395528,;AQPEP,splice_region_variant,,ENST00000504467,;AQPEP,upstream_gene_variant,,ENST00000512314,;AQPEP,upstream_gene_variant,,ENST00000514509,;AQPEP,upstream_gene_variant,,ENST00000503329,;	.	180	259	SUCCESS
ETF1	2107	.	GRCh37	5	137844022	137844022	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	58	0	ENST00000360541.5:c.1286A>T	p.Asp429Val	p.D429V	ENST00000360541	NM_004730.3	429	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS4207.1	1286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATCGTCT	NONE	.	.	hmmpanther:PTHR10113,hmmpanther:PTHR10113:SF7,Gene3D:3.30.1330.30	.	.	ENSP00000353741	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000360541	Transcript	.	.	ENSG00000120705	3477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.02)	.	ERF1_HUMAN	ETF1	HGNC	Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN	.	UPI00001110CB	SNV	ETF1,missense_variant,p.Asp415Val,ENST00000503014,;ETF1,missense_variant,p.Asp429Val,ENST00000360541,;ETF1,missense_variant,p.Asp396Val,ENST00000499810,;ETF1,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000512198,;ETF1,downstream_gene_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000503183,;	1508	58	73	SUCCESS
PCDHA4	56144	.	GRCh37	5	140187339	140187339	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	46	167	0	ENST00000530339.1:c.567A>G	p.Val189=	p.V189=	ENST00000530339	NM_018907.2	189	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS54916.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTAAAAGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000435300	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000530339	Transcript	.	.	ENSG00000204967	8670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA4_HUMAN	PCDHA4	HGNC	.	.	UPI00001273CC	SNV	PCDHA4,synonymous_variant,p.%3D,ENST00000530339,;PCDHA4,synonymous_variant,p.%3D,ENST00000356878,;PCDHA4,synonymous_variant,p.%3D,ENST00000512229,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA3,downstream_gene_variant,,ENST00000532566,;PCDHA2,downstream_gene_variant,,ENST00000520672,;	567	167	183	SUCCESS
PCDHA13	56136	.	GRCh37	5	140263243	140263243	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs573544891	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	33	0	ENST00000289272.2:c.1390G>A	p.Val464Met	p.V464M	ENST00000289272	NM_018904.2	464	Gtg/Atg	0	.	C:0.0015	.	C:0	.	A	V/M	protein_coding	YES	CCDS4240.1	1390	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGTGAAG	NONE	byFrequency|by1000G	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	C:0	.	ENSP00000289272	C:0	1/4	.	.	.	.	.	.	.	.	rs573544891,COSM1261251	1/4	PASS	ENST00000289272	Transcript	.	C:0.0004	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.981)	C:0	deleterious_low_confidence(0.01)	0,1	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Val464Met,ENST00000289272,;PCDHA13,missense_variant,p.Val464Met,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	1390	33	26	SUCCESS
PCDHGA3	56112	.	GRCh37	5	140724102	140724102	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768252153	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	33	109	0	ENST00000253812.6:c.502C>A	p.Gln168Lys	p.Q168K	ENST00000253812	NM_018916.3	168	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47290.1	502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAGAAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000253812	.	1/4	.	.	.	.	.	.	.	.	rs768252153	1/4	PASS	ENST00000253812	Transcript	.	.	ENSG00000254245	8701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.591)	.	deleterious_low_confidence(0)	.	PCDG3_HUMAN	PCDHGA3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000161C1A	SNV	PCDHGA3,missense_variant,p.Gln168Lys,ENST00000253812,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA2,downstream_gene_variant,,ENST00000528330,;	502	109	144	SUCCESS
CYFIP2	26999	.	GRCh37	5	156727773	156727773	+	synonymous_variant	Silent	SNP	C	C	G	rs375762537	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	85	106	0	ENST00000521420.1:c.360C>G	p.Ala120=	p.A120=	ENST00000521420		120	gcC/gcG	0	T:0.0005	T:0	.	T:0	.	G	A	protein_coding	YES	.	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCCGAGCG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1	T:0	T:0.0026	ENSP00000430904	T:0	5/30	.	.	.	.	.	.	.	.	rs375762537	5/30	PASS	ENST00000521420	Transcript	.	T:0.0000	ENSG00000055163	13760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,synonymous_variant,p.%3D,ENST00000521420,;CYFIP2,synonymous_variant,p.%3D,ENST00000377576,;CYFIP2,synonymous_variant,p.%3D,ENST00000541131,;CYFIP2,synonymous_variant,p.%3D,ENST00000318218,;CYFIP2,synonymous_variant,p.%3D,ENST00000347377,;CYFIP2,5_prime_UTR_variant,,ENST00000442283,;CYFIP2,intron_variant,,ENST00000522463,;CYFIP2,3_prime_UTR_variant,,ENST00000517850,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000519002,;CYFIP2,3_prime_UTR_variant,,ENST00000522423,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000522637,;CYFIP2,3_prime_UTR_variant,,ENST00000519252,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,3_prime_UTR_variant,,ENST00000520419,;CYFIP2,intron_variant,,ENST00000523119,;CYFIP2,upstream_gene_variant,,ENST00000518511,;	451	106	126	SUCCESS
TENM2	57451	.	GRCh37	5	167420042	167420042	+	synonymous_variant	Silent	SNP	C	C	G	rs1382783947	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	49	118	0	ENST00000518659.1:c.1041C>G	p.Pro347=	p.P347=	ENST00000518659	NM_001122679.1	347	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	.	1041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCCCCGCC	BUFFER|p.R183H|c.548G>A|3,BUFFER|p.R229H|c.686G>A|3,BUFFER|p.R350H|c.1049G>A|3	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Pfam_domain:PF06484	.	.	ENSP00000429430	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,synonymous_variant,p.%3D,ENST00000545108,;TENM2,synonymous_variant,p.%3D,ENST00000520394,;TENM2,synonymous_variant,p.%3D,ENST00000519204,;TENM2,synonymous_variant,p.%3D,ENST00000518659,;TENM2,synonymous_variant,p.%3D,ENST00000403607,;TENM2,non_coding_transcript_exon_variant,,ENST00000518693,;TENM2,downstream_gene_variant,,ENST00000520393,;TENM2,non_coding_transcript_exon_variant,,ENST00000522488,;	1080	118	112	SUCCESS
FOXI1	2299	.	GRCh37	5	169535372	169535372	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	29	104	0	ENST00000306268.6:c.894C>A	p.Pro298=	p.P298=	ENST00000306268		298	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4372.1	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCTTGGT	BUFFER|p.T295T|c.885G>A|3	.	.	hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042	.	.	ENSP00000304286	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306268	Transcript	1	.	ENSG00000168269	3815	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXI1_HUMAN	FOXI1	HGNC	E0XEN6_HUMAN	.	UPI000013EB16	SNV	FOXI1,synonymous_variant,p.%3D,ENST00000449804,;FOXI1,synonymous_variant,p.%3D,ENST00000306268,;	955	104	124	SUCCESS
MSX2	4488	.	GRCh37	5	174151962	174151962	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	36	0	ENST00000239243.6:c.300G>A	p.Glu100=	p.E100=	ENST00000239243	NM_002449.4	100	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS4392.1	300	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGAGACCGC	NONE	.	.	hmmpanther:PTHR24338,hmmpanther:PTHR24338:SF4	.	.	ENSP00000239243	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239243	Transcript	1	.	ENSG00000120149	7392	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MSX2_HUMAN	MSX2	HGNC	.	.	UPI000013CA79	SNV	MSX2,synonymous_variant,p.%3D,ENST00000239243,;MSX2,synonymous_variant,p.%3D,ENST00000507785,;	427	36	32	SUCCESS
HK3	3101	.	GRCh37	5	176308352	176308352	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	56	0	ENST00000292432.5:c.2578C>A	p.Leu860Met	p.L860M	ENST00000292432	NM_002115.2	860	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS4407.1	2578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGCTCTT	NONE	.	.	hmmpanther:PTHR19443:SF1,hmmpanther:PTHR19443,Pfam_domain:PF03727,Gene3D:3.40.367.20,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.1)	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,missense_variant,p.Leu860Met,ENST00000292432,;UNC5A,downstream_gene_variant,,ENST00000329542,;UNC5A,downstream_gene_variant,,ENST00000261961,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,non_coding_transcript_exon_variant,,ENST00000514666,;	2670	56	75	SUCCESS
HK3	3101	.	GRCh37	5	176316669	176316669	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147991837	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	58	0	ENST00000292432.5:c.707C>T	p.Pro236Leu	p.P236L	ENST00000292432	NM_002115.2	236	cCg/cTg	0	A:0	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS4407.1	707	RADIA|MUSE|VARSCANS	.	CACACGGCCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19443:SF1,hmmpanther:PTHR19443,Gene3D:3.40.367.20	A:0	A:0.0003	ENSP00000292432	A:0.001	7/19	.	.	.	.	.	.	.	.	rs147991837	7/19	PASS	ENST00000292432	Transcript	.	A:0.0002	ENSG00000160883	4925	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.57)	A:0	tolerated(0.54)	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,missense_variant,p.Pro236Leu,ENST00000292432,;HK3,3_prime_UTR_variant,,ENST00000504910,;HK3,intron_variant,,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000506834,;	799	58	83	SUCCESS
GNB2L1	0	.	GRCh37	5	180670901	180670901	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	25	0	ENST00000512805.1:c.-101T>G		p.*34*	ENST00000512805	NM_006098.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34324.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAAGAGAG	NONE	.	.	.	.	.	ENSP00000426909	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000512805	Transcript	.	.	ENSG00000204628	4399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBLP_HUMAN	GNB2L1	HGNC	E9KL35_HUMAN,D6RFX4_HUMAN,D6RF23_HUMAN	.	UPI0000001602	SNV	GNB2L1,5_prime_UTR_variant,,ENST00000456394,;GNB2L1,5_prime_UTR_variant,,ENST00000503081,;GNB2L1,5_prime_UTR_variant,,ENST00000513027,;GNB2L1,5_prime_UTR_variant,,ENST00000376817,;GNB2L1,5_prime_UTR_variant,,ENST00000512805,;GNB2L1,intron_variant,,ENST00000507000,;GNB2L1,intron_variant,,ENST00000510199,;GNB2L1,upstream_gene_variant,,ENST00000511900,;GNB2L1,upstream_gene_variant,,ENST00000504128,;GNB2L1,upstream_gene_variant,,ENST00000504726,;GNB2L1,upstream_gene_variant,,ENST00000512968,;GNB2L1,upstream_gene_variant,,ENST00000502844,;GNB2L1,upstream_gene_variant,,ENST00000502905,;GNB2L1,upstream_gene_variant,,ENST00000507756,;GNB2L1,upstream_gene_variant,,ENST00000509535,;GNB2L1,upstream_gene_variant,,ENST00000511566,;SNORD95,upstream_gene_variant,,ENST00000579879,;SNORD96A,upstream_gene_variant,,ENST00000606577,;CTC-338M12.4,upstream_gene_variant,,ENST00000417281,;CTC-338M12.4,upstream_gene_variant,,ENST00000506340,;CTC-338M12.4,upstream_gene_variant,,ENST00000505151,;CTC-338M12.4,upstream_gene_variant,,ENST00000511331,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000505461,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000503170,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000514318,;GNB2L1,5_prime_UTR_variant,,ENST00000508682,;GNB2L1,5_prime_UTR_variant,,ENST00000506312,;GNB2L1,5_prime_UTR_variant,,ENST00000511473,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000502548,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000507261,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000508963,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000513060,;GNB2L1,upstream_gene_variant,,ENST00000514183,;GNB2L1,upstream_gene_variant,,ENST00000503494,;GNB2L1,upstream_gene_variant,,ENST00000504325,;GNB2L1,upstream_gene_variant,,ENST00000508044,;GNB2L1,upstream_gene_variant,,ENST00000502890,;GNB2L1,upstream_gene_variant,,ENST00000515417,;	309	25	26	SUCCESS
CDH6	1004	.	GRCh37	5	31294184	31294184	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1561061837	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	11	106	0	ENST00000265071.2:c.344G>A	p.Arg115Lys	p.R115K	ENST00000265071	NM_004932.3	115	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS3894.1	344	MUTECT|MUSE|VARSCANS	.	CAAGAGGCTGG	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000265071	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.4)	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,missense_variant,p.Arg60Lys,ENST00000514738,;CDH6,missense_variant,p.Arg115Lys,ENST00000265071,;CDH6,upstream_gene_variant,,ENST00000508132,;	609	106	135	SUCCESS
JMY	133746	.	GRCh37	5	78610232	78610232	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs376215787	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	67	126	0	ENST00000396137.4:c.2217A>C	p.Glu739Asp	p.E739D	ENST00000396137	NM_152405.4	739	gaA/gaC	0	G:0	.	.	.	.	C	E/D	protein_coding	YES	CCDS4047.3	2217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAAGGAAG	NONE	byCluster	.	hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF8	.	G:0.0001	ENSP00000379441	.	9/11	.	.	.	.	.	.	.	.	rs376215787	9/11	PASS	ENST00000396137	Transcript	.	.	ENSG00000152409	28916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.41)	.	JMY_HUMAN	JMY	HGNC	.	.	UPI0000E5AC67	SNV	JMY,missense_variant,p.Glu739Asp,ENST00000396137,;JMY,intron_variant,,ENST00000412001,;	2679	126	155	SUCCESS
RASA1	5921	.	GRCh37	5	86685321	86685321	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs993477801	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	97	0	ENST00000274376.6:c.3037A>G	p.Ser1013Gly	p.S1013G	ENST00000274376	NM_002890.2	1013	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS34200.1	3037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCAGTAAT	NONE	.	.	hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000274376	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	tolerated(0.12)	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,missense_variant,p.Ser846Gly,ENST00000512763,;RASA1,missense_variant,p.Ser1013Gly,ENST00000274376,;RASA1,missense_variant,p.Ser847Gly,ENST00000506290,;RASA1,missense_variant,p.Ser836Gly,ENST00000456692,;CCNH,downstream_gene_variant,,ENST00000508855,;CCNH,downstream_gene_variant,,ENST00000256897,;CCNH,downstream_gene_variant,,ENST00000504878,;CCNH,downstream_gene_variant,,ENST00000510921,;RASA1,3_prime_UTR_variant,,ENST00000515800,;CCNH,downstream_gene_variant,,ENST00000505587,;CCNH,downstream_gene_variant,,ENST00000511207,;CCNH,downstream_gene_variant,,ENST00000504115,;	3601	97	106	SUCCESS
C6orf15	29113	.	GRCh37	6	31079722	31079722	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	116	0	ENST00000259870.3:c.414C>T	p.Leu138=	p.L138=	ENST00000259870	NM_014070.2	138	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4693.1	414	MUTECT|MUSE	.	CTGGAGAGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15817,hmmpanther:PTHR15817:SF2	.	.	ENSP00000259870	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259870	Transcript	.	.	ENSG00000204542	13927	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CF015_HUMAN	C6orf15	HGNC	M1T2K5_HUMAN	.	UPI000000D748	SNV	C6orf15,synonymous_variant,p.%3D,ENST00000259870,;CDSN,downstream_gene_variant,,ENST00000376288,;PSORS1C1,upstream_gene_variant,,ENST00000259881,;PSORS1C1,upstream_gene_variant,,ENST00000467107,;PSORS1C1,upstream_gene_variant,,ENST00000479581,;PSORS1C1,upstream_gene_variant,,ENST00000493289,;PSORS1C1,upstream_gene_variant,,ENST00000548049,;PSORS1C1,upstream_gene_variant,,ENST00000552747,;PSORS1C1,upstream_gene_variant,,ENST00000550838,;	418	116	72	SUCCESS
MB21D1	0	.	GRCh37	6	74161257	74161257	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749860310	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	53	0	ENST00000370315.3:c.648G>T	p.Glu216Asp	p.E216D	ENST00000370315	NM_138441.2	216	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4978.1	648	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACGTGCTCATA	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656:SF35,hmmpanther:PTHR10656	.	.	ENSP00000359339	.	1/5	.	.	.	.	.	.	.	.	rs749860310	1/5	PASS	ENST00000370315	Transcript	.	.	ENSG00000164430	21367	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CGAS_HUMAN	MB21D1	HGNC	A6PW79_HUMAN	.	UPI00001AEC2D	SNV	MB21D1,missense_variant,p.Glu216Asp,ENST00000370315,;MB21D1,missense_variant,p.Glu216Asp,ENST00000370318,;	743	53	46	SUCCESS
CD109	135228	.	GRCh37	6	74492373	74492373	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	26	119	0	ENST00000287097.5:c.2003del	p.Asn668MetfsTer6	p.N668Mfs*6	ENST00000287097		667	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS4982.1	2000	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGAGGAAAATG	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	.	.	ENSP00000287097	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000287097	Transcript	.	.	ENSG00000156535	21685	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD109_HUMAN	CD109	HGNC	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN	.	UPI000013DE92	deletion	CD109,frameshift_variant,p.Asn668MetfsTer6,ENST00000287097,;CD109,frameshift_variant,p.Asn668MetfsTer6,ENST00000437994,;CD109,frameshift_variant,p.Asn591MetfsTer6,ENST00000422508,;	2112	119	102	SUCCESS
SENP6	26054	.	GRCh37	6	76376480	76376481	+	frameshift_variant	Frame_Shift_Ins	INS	AA	AA	TTTC	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	68	0	ENST00000447266.2:c.1047_1048delinsTTTC	p.Glu349AspfsTer23	p.E349Dfs*23	ENST00000447266	NM_015571.2	349	gaAAgc/gaTTTCgc	0	.	.	.	.	.	TTTC	ES/DFX	protein_coding	YES	CCDS47454.1	1047-1048	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	AAGAGAAAGCATA	NONE	.	.	hmmpanther:PTHR12438:SF14,hmmpanther:PTHR12438	.	.	ENSP00000402527	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000447266	Transcript	.	.	ENSG00000112701	20944	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SENP6_HUMAN	SENP6	HGNC	H0Y4F4_HUMAN	.	UPI0000141B65	substitution	SENP6,frameshift_variant,p.Glu239AspfsTer23,ENST00000424947,;SENP6,frameshift_variant,p.Glu342AspfsTer23,ENST00000327284,;SENP6,frameshift_variant,p.Glu342AspfsTer23,ENST00000370010,;SENP6,frameshift_variant,p.Glu349AspfsTer23,ENST00000370014,;SENP6,frameshift_variant,p.Glu349AspfsTer23,ENST00000447266,;SENP6,upstream_gene_variant,,ENST00000541192,;SENP6,downstream_gene_variant,,ENST00000483859,;SENP6,downstream_gene_variant,,ENST00000436928,;SENP6,downstream_gene_variant,,ENST00000485497,;SENP6,upstream_gene_variant,,ENST00000503501,;	1525-1526	68	42	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90562907	90562907	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	65	121	1	ENST00000551025.1:n.1515T>C		p.*505*	ENST00000551025				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGAAGG	NONE	.	.	.	.	.	.	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000551025	Transcript	.	.	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000444163,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000419040,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000552401,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000547893,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000548224,;	1515	122	156	SUCCESS
PARP12	64761	.	GRCh37	7	139756829	139756829	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	75	1	ENST00000263549.3:c.587A>G	p.Lys196Arg	p.K196R	ENST00000263549	NM_022750.2	196	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS5857.1	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTTACAG	NONE	.	.	SMART_domains:SM00356,Pfam_domain:PF00642,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF15,PROSITE_profiles:PS50103	.	.	ENSP00000263549	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000263549	Transcript	.	.	ENSG00000059378	21919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.04)	.	PAR12_HUMAN	PARP12	HGNC	A4D1T0_HUMAN	.	UPI000006F644	SNV	PARP12,missense_variant,p.Lys196Arg,ENST00000263549,;PARP12,upstream_gene_variant,,ENST00000489809,;PARP12,missense_variant,p.Lys196Arg,ENST00000473341,;PARP12,non_coding_transcript_exon_variant,,ENST00000488726,;PARP12,upstream_gene_variant,,ENST00000493262,;PARP12,downstream_gene_variant,,ENST00000467638,;PARP12,upstream_gene_variant,,ENST00000491598,;	1461	76	62	SUCCESS
TAS2R38	5726	.	GRCh37	7	141672569	141672569	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	91	0	ENST00000547270.1:c.921T>A	p.Ala307=	p.A307=	ENST00000547270	NM_176817.4	307	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34765.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACAGCTCT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF52,hmmpanther:PTHR11394	.	.	ENSP00000448219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000547270	Transcript	.	.	ENSG00000257138	9584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R38_HUMAN	TAS2R38	HGNC	Q50KM3_HUMAN,Q50KM1_HUMAN	.	UPI000000D825	SNV	TAS2R38,synonymous_variant,p.%3D,ENST00000547270,;MGAM,intron_variant,,ENST00000465654,;	1005	91	62	SUCCESS
ZNF786	136051	.	GRCh37	7	148767724	148767724	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	100	1	ENST00000491431.1:c.2140C>A	p.Arg714=	p.R714=	ENST00000491431	NM_152411.3	714	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47738.1	2140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGGAAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000417470	.	4/4	.	.	.	.	.	.	.	.	COSM3259749	4/4	PASS	ENST00000491431	Transcript	.	.	ENSG00000197362	21806	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN786_HUMAN	ZNF786	HGNC	H7BXP3_HUMAN,B4DMI1_HUMAN	.	UPI000013FD40	SNV	ZNF786,synonymous_variant,p.%3D,ENST00000491431,;ZNF786,synonymous_variant,p.%3D,ENST00000316286,;ZNF786,synonymous_variant,p.%3D,ENST00000451334,;	2205	101	112	SUCCESS
KMT2C	58508	.	GRCh37	7	151970850	151970850	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	285	19	463	0	ENST00000262189.6:c.952C>A	p.Gln318Lys	p.Q318K	ENST00000262189	NM_170606.2	318	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5931.1	952	MUTECT|MUSE	.	ATCCTGAAAGG	BUFFER|p.G315S|c.943G>A|5,BUFFER|p.G315S|c.943G>A|5	.	.	Pfam_domain:PF13771,SMART_domains:SM00249	.	.	ENSP00000262189	.	7/59	.	.	.	.	.	.	.	.	.	7/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.84)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Gln318Lys,ENST00000355193,;KMT2C,missense_variant,p.Gln318Lys,ENST00000262189,;KMT2C,missense_variant,p.Gln318Lys,ENST00000558084,;	1171	463	304	SUCCESS
INTS1	26173	.	GRCh37	7	1525069	1525069	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760716820	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	30	36	0	ENST00000404767.3:c.3013G>T	p.Asp1005Tyr	p.D1005Y	ENST00000404767	NM_001080453.2	1005	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47526.1	3013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTCCCGCA	NONE	byFrequency	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	.	.	ENSP00000385722	.	23/48	.	.	.	.	.	.	.	.	rs760716820	23/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Asp1005Tyr,ENST00000404767,;INTS1,missense_variant,p.Asp1167Tyr,ENST00000389470,;INTS1,non_coding_transcript_exon_variant,,ENST00000468115,;	3099	36	42	SUCCESS
KLHL7	55975	.	GRCh37	7	23207527	23207527	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	30	119	0	ENST00000339077.5:c.1250T>C	p.Leu417Pro	p.L417P	ENST00000339077	NM_001031710.2	417	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS34609.1	1250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGACCC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF151,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000343273	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000339077	Transcript	.	.	ENSG00000122550	15646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	tolerated(0.23)	.	KLHL7_HUMAN	KLHL7	HGNC	E5RFN1_HUMAN,B7Z4N7_HUMAN,B7Z3P9_HUMAN	.	UPI0000037B12	SNV	KLHL7,missense_variant,p.Leu369Pro,ENST00000409689,;KLHL7,missense_variant,p.Leu341Pro,ENST00000539124,;KLHL7,missense_variant,p.Leu417Pro,ENST00000339077,;KLHL7,missense_variant,p.Leu395Pro,ENST00000322231,;KLHL7,missense_variant,p.Leu395Pro,ENST00000545443,;KLHL7,missense_variant,p.Leu192Pro,ENST00000542558,;AC005082.1,upstream_gene_variant,,ENST00000366347,;KLHL7,3_prime_UTR_variant,,ENST00000521082,;KLHL7,non_coding_transcript_exon_variant,,ENST00000469576,;KLHL7,upstream_gene_variant,,ENST00000469845,;	1493	119	152	SUCCESS
NPVF	64111	.	GRCh37	7	25267920	25267920	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	61	149	0	ENST00000222674.2:c.138+1G>A		p.X46_splice	ENST00000222674	NM_022150.3	46		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5395.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCTCAG	NONE	.	.	.	.	.	ENSP00000222674	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222674	Transcript	.	.	ENSG00000105954	13782	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPVF_HUMAN	NPVF	HGNC	.	.	UPI000004CB0B	SNV	NPVF,splice_donor_variant,,ENST00000222674,;	.	149	237	SUCCESS
NACAD	23148	.	GRCh37	7	45124554	45124554	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	54	0	ENST00000490531.2:c.1225C>T	p.Pro409Ser	p.P409S	ENST00000490531	NM_001146334.1	409	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47582.1	1225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGCTCCC	NONE	.	.	hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713	.	.	ENSP00000420477	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Pro409Ser,ENST00000490531,;NACAD,upstream_gene_variant,,ENST00000460409,;	1245	54	74	SUCCESS
COBL	23242	.	GRCh37	7	51098538	51098538	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	48	182	0	ENST00000265136.7:c.1475C>G	p.Thr492Ser	p.T492S	ENST00000265136	NM_015198.3	492	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS34637.1	1475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGGTTTTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	.	.	ENSP00000265136	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.343)	.	deleterious(0.02)	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,missense_variant,p.Thr468Ser,ENST00000452534,;COBL,missense_variant,p.Thr377Ser,ENST00000431948,;COBL,missense_variant,p.Thr492Ser,ENST00000265136,;COBL,missense_variant,p.Thr574Ser,ENST00000395542,;COBL,missense_variant,p.Thr384Ser,ENST00000445054,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	1641	182	190	SUCCESS
AUTS2	26053	.	GRCh37	7	70228060	70228060	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772514731	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	63	0	ENST00000342771.4:c.947G>A	p.Arg316Gln	p.R316Q	ENST00000342771	NM_015570.2	316	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS5539.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGAGCTC	NONE	byFrequency	.	hmmpanther:PTHR14429:SF5,hmmpanther:PTHR14429	.	.	ENSP00000344087	.	7/19	.	.	.	.	.	.	.	.	rs772514731	7/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.51)	.	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,missense_variant,p.Arg316Gln,ENST00000342771,;AUTS2,missense_variant,p.Arg316Gln,ENST00000406775,;AUTS2,missense_variant,p.Arg97Gln,ENST00000416482,;AUTS2,upstream_gene_variant,,ENST00000443672,;AUTS2,upstream_gene_variant,,ENST00000483297,;AUTS2,upstream_gene_variant,,ENST00000481994,;	1268	63	61	SUCCESS
POM121C	100101267	.	GRCh37	7	75054388	75054388	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	70	244	0	ENST00000453279.2:c.737T>C	p.Leu246Pro	p.L246P	ENST00000453279	NM_001099415.2	246	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS47617.1	737	SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCAGCAGC	NONE	.	.	Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5	.	.	ENSP00000414208	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000453279	Transcript	.	.	ENSG00000135213	34005	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	P121C_HUMAN	POM121C	HGNC	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN	.	UPI00001C1E87	SNV	POM121C,missense_variant,p.Leu246Pro,ENST00000453279,;POM121C,missense_variant,p.Leu488Pro,ENST00000257665,;POM121C,downstream_gene_variant,,ENST00000439629,;POM121C,non_coding_transcript_exon_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000476072,;POM121C,upstream_gene_variant,,ENST00000473609,;POM121C,downstream_gene_variant,,ENST00000479864,;	1602	245	226	SUCCESS
ADAM22	53616	.	GRCh37	7	87780308	87780308	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	77	298	0	ENST00000265727.7:c.1579A>T	p.Ile527Phe	p.I527F	ENST00000265727		527	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS47637.1	1579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATATTCAT	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000265727	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000265727	Transcript	.	.	ENSG00000008277	201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	deleterious(0.02)	.	ADA22_HUMAN	ADAM22	HGNC	Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN	.	UPI00001254DC	SNV	ADAM22,missense_variant,p.Ile527Phe,ENST00000398209,;ADAM22,missense_variant,p.Ile494Phe,ENST00000398203,;ADAM22,missense_variant,p.Ile527Phe,ENST00000315984,;ADAM22,missense_variant,p.Ile527Phe,ENST00000265727,;ADAM22,missense_variant,p.Ile527Phe,ENST00000398201,;ADAM22,missense_variant,p.Ile527Phe,ENST00000398204,;	1658	298	209	SUCCESS
SLC30A8	169026	.	GRCh37	8	118169990	118169990	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	55	225	1	ENST00000456015.2:c.479A>G	p.Tyr160Cys	p.Y160C	ENST00000456015	NM_173851.2	160	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6322.1	479	RADIA|VARSCANS	.	AGTGTACCTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Superfamily_domains:0054606	.	.	ENSP00000415011	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,missense_variant,p.Tyr111Cys,ENST00000427715,;SLC30A8,missense_variant,p.Tyr160Cys,ENST00000456015,;SLC30A8,missense_variant,p.Tyr111Cys,ENST00000519688,;SLC30A8,missense_variant,p.Tyr111Cys,ENST00000521243,;SLC30A8,downstream_gene_variant,,ENST00000524274,;SLC30A8,downstream_gene_variant,,ENST00000518521,;	479	227	302	SUCCESS
ZHX2	22882	.	GRCh37	8	123963936	123963936	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	60	0	ENST00000314393.4:c.186G>A	p.Glu62=	p.E62=	ENST00000314393	NM_014943.3	62	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS6336.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGAGGTGAA	NONE	.	.	hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5	.	.	ENSP00000314709	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314393	Transcript	.	.	ENSG00000178764	18513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,synonymous_variant,p.%3D,ENST00000314393,;ZHX2,synonymous_variant,p.%3D,ENST00000534247,;	1021	60	79	SUCCESS
RECQL4	9401	.	GRCh37	8	145738331	145738331	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	28	86	1	ENST00000428558.2:c.2654T>C	p.Leu885Pro	p.L885P	ENST00000428558	NM_004260.3	885	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	.	2654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTAAGCTGC	NONE	.	.	hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1	.	.	ENSP00000475456	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.27)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Leu276Pro,ENST00000534626,;RECQL4,missense_variant,p.Leu885Pro,ENST00000428558,;MFSD3,downstream_gene_variant,,ENST00000301327,;RECQL4,downstream_gene_variant,,ENST00000524998,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,intron_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;	2696	87	130	SUCCESS
RNF20	56254	.	GRCh37	9	104302849	104302849	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	63	1	ENST00000389120.3:c.375A>G	p.Lys125=	p.K125=	ENST00000389120	NM_019592.6	125	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS35084.1	375	MUTECT|MUSE	.	CGAAAAGCCCT	NONE	.	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163	.	.	ENSP00000373772	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,synonymous_variant,p.%3D,ENST00000389120,;RNF20,synonymous_variant,p.%3D,ENST00000466817,;RNF20,synonymous_variant,p.%3D,ENST00000374819,;RNF20,downstream_gene_variant,,ENST00000479306,;RNF20,downstream_gene_variant,,ENST00000481046,;	465	64	34	SUCCESS
ZFP37	7539	.	GRCh37	9	115805121	115805121	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs373174435	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	122	0	ENST00000374227.3:c.1777C>T	p.Arg593Ter	p.R593*	ENST00000374227		593	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS6787.1	1777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCGCTGAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF139,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	A:0.0001	ENSP00000363344	.	4/4	.	.	.	.	.	.	.	.	rs373174435	4/4	PASS	ENST00000374227	Transcript	.	.	ENSG00000136866	12863	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP37_HUMAN	ZFP37	HGNC	.	.	UPI000013D04B	SNV	ZFP37,stop_gained,p.Arg608Ter,ENST00000553380,;ZFP37,stop_gained,p.Arg594Ter,ENST00000555206,;ZFP37,stop_gained,p.Arg593Ter,ENST00000374227,;	1805	122	99	SUCCESS
FAM122A	0	.	GRCh37	9	71395649	71395649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	149	0	ENST00000394264.3:c.569C>A	p.Pro190His	p.P190H	ENST00000394264	NM_138333.3	190	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS6623.1	569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCCATCA	NONE	.	.	hmmpanther:PTHR22227:SF3,hmmpanther:PTHR22227,Low_complexity_(Seg):seg	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,missense_variant,p.Pro190His,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	686	149	110	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84528459	84528459	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	131	0	ENST00000527857.1:n.108A>T		p.*36*	ENST00000527857				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATATTGAC	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	108	131	62	SUCCESS
NXF3	56000	.	GRCh37	X	102332620	102332620	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	28	58	0	ENST00000395065.3:c.1506C>G	p.Thr502=	p.T502=	ENST00000395065	NM_022052.1	502	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS14503.1	1506	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCTGGGTCCC	NONE	.	.	hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,synonymous_variant,p.%3D,ENST00000395065,;NXF3,synonymous_variant,p.%3D,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,downstream_gene_variant,,ENST00000427570,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,non_coding_transcript_exon_variant,,ENST00000468528,;NXF3,non_coding_transcript_exon_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000460791,;	1608	58	35	SUCCESS
IRAK1	3654	.	GRCh37	X	153278076	153278076	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782334259	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	64	0	ENST00000369980.3:c.1984A>G	p.Ile662Val	p.I662V	ENST00000369980	NM_001569.3	662	Atc/Gtc	0	.	C:0.0008	.	C:0	.	C	I/V	protein_coding	YES	CCDS14740.1	1984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATGATAA	NONE	by1000G	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF1	C:0	.	ENSP00000358997	C:0	13/14	.	.	.	.	.	.	.	.	rs782334259,COSM457086,COSM457087	13/14	PASS	ENST00000369980	Transcript	.	C:0.0003	ENSG00000184216	6112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.995)	C:0	tolerated(0.1)	0,1,1	IRAK1_HUMAN	IRAK1	HGNC	.	.	UPI000012D873	SNV	IRAK1,missense_variant,p.Ile662Val,ENST00000369980,;IRAK1,missense_variant,p.Ile658Val,ENST00000429936,;IRAK1,missense_variant,p.Ile583Val,ENST00000369974,;IRAK1,missense_variant,p.Ile632Val,ENST00000393687,;IRAK1,missense_variant,p.Ile643Val,ENST00000393682,;IRAK1,missense_variant,p.Ile226Val,ENST00000437278,;IRAK1,synonymous_variant,p.%3D,ENST00000455690,;IRAK1,intron_variant,,ENST00000444230,;IRAK1,intron_variant,,ENST00000444254,;IRAK1,downstream_gene_variant,,ENST00000443220,;IRAK1,intron_variant,,ENST00000477274,;IRAK1,downstream_gene_variant,,ENST00000467236,;IRAK1,3_prime_UTR_variant,,ENST00000369973,;	2152	64	54	SUCCESS
REPS2	9185	.	GRCh37	X	17156984	17156984	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	110	0	ENST00000357277.3:c.1814C>T	p.Ser605Phe	p.S605F	ENST00000357277	NM_001080975.1	605	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS14180.2	1814	MUTECT|MUSE	.	GCAGTCTTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216	.	.	ENSP00000349824	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000357277	Transcript	.	.	ENSG00000169891	9963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.753)	.	tolerated(0.08)	.	REPS2_HUMAN	REPS2	HGNC	.	.	UPI00001BBB18	SNV	REPS2,missense_variant,p.Ser404Phe,ENST00000380064,;REPS2,missense_variant,p.Ser605Phe,ENST00000357277,;REPS2,missense_variant,p.Ser604Phe,ENST00000303843,;REPS2,non_coding_transcript_exon_variant,,ENST00000469714,;REPS2,non_coding_transcript_exon_variant,,ENST00000470686,;	1985	110	71	SUCCESS
NUDT10	170685	.	GRCh37	X	51075989	51075989	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	34	49	0	ENST00000356450.2:c.172C>A	p.Pro58Thr	p.P58T	ENST00000356450		58	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS35278.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCCGGGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51462,hmmpanther:PTHR12629,hmmpanther:PTHR12629:SF2,PROSITE_patterns:PS00893,Pfam_domain:PF00293,Gene3D:3.90.79.10,Superfamily_domains:SSF55811	.	.	ENSP00000365174	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000376006	Transcript	.	.	ENSG00000122824	17621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	NUD10_HUMAN	NUDT10	HGNC	.	.	UPI000006D69E	SNV	NUDT10,missense_variant,p.Pro58Thr,ENST00000356450,;NUDT10,missense_variant,p.Pro58Thr,ENST00000376006,;	392	49	45	SUCCESS
XAGE5	170627	.	GRCh37	X	52841663	52841663	+	splice_donor_variant	Splice_Site	SNP	G	G	C	rs1382138796	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	75	0	ENST00000351072.1:c.72+1G>C		p.X24_splice	ENST00000351072		24		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14346.1	.	MUTECT|MUSE	.	TGCTTGTGAGT	NONE	.	.	.	.	.	ENSP00000342240	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000351072	Transcript	.	.	ENSG00000171405	30930	.	.	HIGH	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XAGE5_HUMAN	XAGE5	HGNC	.	.	UPI0000138FC9	SNV	XAGE5,splice_donor_variant,,ENST00000425386,;XAGE5,splice_donor_variant,,ENST00000351072,;XAGE5,splice_donor_variant,,ENST00000375501,;XAGE5,splice_donor_variant,,ENST00000375503,;XAGE5,upstream_gene_variant,,ENST00000445860,;	.	75	56	SUCCESS
ITIH6	347365	.	GRCh37	X	54800575	54800575	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	10	120	0	ENST00000218436.6:c.842A>C	p.Glu281Ala	p.E281A	ENST00000218436	NM_198510.2	281	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS14361.1	842	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTCCATA	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338,SMART_domains:SM00327	.	.	ENSP00000218436	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.114)	.	tolerated(0.29)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Glu281Ala,ENST00000218436,;	872	120	105	SUCCESS
BTRC	8945	.	GRCh37	10	103310572	103310573	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs774921343	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	103	50	133	0	ENST00000370187.3:c.1780dup	p.Arg594ProfsTer27	p.R594Pfs*27	ENST00000370187	NM_033637.3	591	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS7512.1	1773-1774	INDELOCATOR|VARSCANI	.	GCTGAACCCCC	NONE	.	.	hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844	.	.	ENSP00000359206	.	14/15	.	.	.	.	.	.	.	.	rs774921343	14/15	PASS	ENST00000370187	Transcript	1	.	ENSG00000166167	1144	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBW1A_HUMAN	BTRC	HGNC	Q5T1W7_HUMAN	.	UPI00000012B5	insertion	BTRC,frameshift_variant,p.Arg558ProfsTer27,ENST00000408038,;BTRC,frameshift_variant,p.Arg594ProfsTer27,ENST00000370187,;BTRC,frameshift_variant,p.Arg553ProfsTer27,ENST00000393441,;BTRC,non_coding_transcript_exon_variant,,ENST00000493877,;	1891-1892	133	154	SUCCESS
TRIM8	81603	.	GRCh37	10	104416988	104416988	+	synonymous_variant	Silent	SNP	C	C	T	rs538222747	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	36	0	ENST00000302424.7:c.1533C>T	p.Ser511=	p.S511=	ENST00000302424	NM_030912.2	511	tcC/tcT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS31274.1	1533	MUTECT|MUSE	.	CCCTCCGTCCC	NONE	by1000G	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF114	T:0	.	ENSP00000302120	T:0	6/6	.	.	.	.	.	.	.	.	rs538222747,COSM4011304	6/6	PASS	ENST00000302424	Transcript	.	T:0.0002	ENSG00000171206	15579	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	T:0.001	.	0,1	TRIM8_HUMAN	TRIM8	HGNC	Q5JSM3_HUMAN	.	UPI0000134321	SNV	TRIM8,synonymous_variant,p.%3D,ENST00000302424,;TRIM8,downstream_gene_variant,,ENST00000462202,;TRIM8,downstream_gene_variant,,ENST00000479004,;TRIM8,downstream_gene_variant,,ENST00000487927,;	1655	36	36	SUCCESS
DUSP5	1847	.	GRCh37	10	112262621	112262621	+	synonymous_variant	Silent	SNP	T	T	C	rs1277026185	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	89	0	ENST00000369583.3:c.522T>C	p.Tyr174=	p.Y174=	ENST00000369583	NM_004419.3	174	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS7566.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTATGACCA	NONE	.	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000939,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF40	.	.	ENSP00000358596	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000369583	Transcript	.	.	ENSG00000138166	3071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS5_HUMAN	DUSP5	HGNC	.	.	UPI000013D0FF	SNV	DUSP5,synonymous_variant,p.%3D,ENST00000369583,;DUSP5,non_coding_transcript_exon_variant,,ENST00000468749,;	806	89	99	SUCCESS
CTNNA3	29119	.	GRCh37	10	69299302	69299302	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	18	128	0	ENST00000433211.2:c.418G>C	p.Asp140His	p.D140H	ENST00000433211	NM_013266.2	140	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS7269.1	418	RADIA|MUTECT|MUSE|VARSCANS	.	CATGTCCGCAA	NONE	.	.	hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220,Prints_domain:PR00805	.	.	ENSP00000389714	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000433211	Transcript	1	.	ENSG00000183230	2511	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	CTNA3_HUMAN	CTNNA3	HGNC	Q5SW23_HUMAN,A6NKP0_HUMAN	.	UPI000004A0E6	SNV	CTNNA3,missense_variant,p.Asp140His,ENST00000433211,;CTNNA3,missense_variant,p.Asp140His,ENST00000330298,;CTNNA3,missense_variant,p.Asp140His,ENST00000545309,;CTNNA3,missense_variant,p.Asp140His,ENST00000373744,;	593	128	179	SUCCESS
CDHR1	92211	.	GRCh37	10	85970872	85970872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	40	0	ENST00000372117.3:c.1436C>A	p.Ala479Asp	p.A479D	ENST00000372117	NM_033100.3	479	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS7372.1	1436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTGCCAGGA	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,missense_variant,p.Ala479Asp,ENST00000372117,;CDHR1,missense_variant,p.Ala479Asp,ENST00000332904,;CDHR1,intron_variant,,ENST00000440770,;CDHR1,upstream_gene_variant,,ENST00000459673,;	1539	40	56	SUCCESS
RNF26	79102	.	GRCh37	11	119206381	119206381	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	104	0	ENST00000311413.4:c.549A>G	p.Val183=	p.V183=	ENST00000311413	NM_032015.4	183	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS8419.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTAGTGGC	NONE	.	.	hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696	.	.	ENSP00000312439	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311413	Transcript	.	.	ENSG00000173456	14646	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF26_HUMAN	RNF26	HGNC	.	.	UPI0000001BF4	SNV	RNF26,synonymous_variant,p.%3D,ENST00000311413,;MFRP,downstream_gene_variant,,ENST00000555262,;C1QTNF5,downstream_gene_variant,,ENST00000528368,;C1QTNF5,downstream_gene_variant,,ENST00000445041,;RP11-334E6.10,downstream_gene_variant,,ENST00000501918,;C1QTNF5,downstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000530681,;	1145	104	100	SUCCESS
TRIM68	55128	.	GRCh37	11	4621894	4621894	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139399398	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	51	115	0	ENST00000300747.5:c.1070G>A	p.Arg357Gln	p.R357Q	ENST00000300747	NM_018073.6	357	cGg/cAg	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS31356.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCGGCCT	NONE	byCluster	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF89,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	T:0	ENSP00000300747	.	7/7	.	.	.	.	.	.	.	.	rs139399398,COSM1508243	7/7	PASS	ENST00000300747	Transcript	.	.	ENSG00000167333	21161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.173)	.	deleterious(0.02)	0,1	TRI68_HUMAN	TRIM68	HGNC	E9PP83_HUMAN	.	UPI00001D6F26	SNV	TRIM68,missense_variant,p.Arg134Gln,ENST00000526337,;TRIM68,missense_variant,p.Arg357Gln,ENST00000300747,;TRIM68,downstream_gene_variant,,ENST00000533021,;TRIM68,3_prime_UTR_variant,,ENST00000531101,;TRIM68,downstream_gene_variant,,ENST00000532108,;TRIM68,downstream_gene_variant,,ENST00000531717,;TRIM68,downstream_gene_variant,,ENST00000531644,;	1360	115	115	SUCCESS
OR4X2	119764	.	GRCh37	11	48267566	48267566	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	75	0	ENST00000302329.3:c.911A>T	p.Ter304LeuextTer11	p.*304Lext*11	ENST00000302329	NM_001004727.1	304	tAg/tTg	0	.	.	.	.	.	T	*/L	protein_coding	YES	CCDS31486.1	911	MUTECT|MUSE	.	GAAATAGAGGC	NONE	.	.	.	.	.	ENSP00000307751	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302329	Transcript	.	.	ENSG00000172208	15184	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR4X2_HUMAN	OR4X2	HGNC	.	.	UPI0000041BE3	SNV	OR4X2,stop_lost,p.Ter304LeuextTer11,ENST00000302329,;	959	75	71	SUCCESS
OR5D18	219438	.	GRCh37	11	55587787	55587787	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	57	140	0	ENST00000333976.4:c.682A>G	p.Lys228Glu	p.K228E	ENST00000333976	NM_001001952.1	228	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS31510.1	682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAAGATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0)	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Lys228Glu,ENST00000333976,;	702	140	159	SUCCESS
OR5L2	26338	.	GRCh37	11	55595156	55595156	+	synonymous_variant	Silent	SNP	G	G	T	rs144734181	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	80	190	0	ENST00000378397.1:c.462G>T	p.Val154=	p.V154=	ENST00000378397	NM_001004739.1	154	gtG/gtT	0	C:0.0016	.	.	.	.	T	V	protein_coding	YES	CCDS31511.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTGTGTTC	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	C:0	ENSP00000367650	.	1/1	.	.	.	.	.	.	.	.	rs144734181,COSM373544	1/1	PASS	ENST00000378397	Transcript	.	.	ENSG00000205030	8351	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	OR5L2_HUMAN	OR5L2	HGNC	.	.	UPI0000041C49	SNV	OR5L2,synonymous_variant,p.%3D,ENST00000378397,;	462	190	219	SUCCESS
OR9I1	219954	.	GRCh37	11	57886305	57886305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	82	0	ENST00000302610.1:c.612T>A	p.Asn204Lys	p.N204K	ENST00000302610	NM_001005211.1	204	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS31542.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAATTGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF232,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000302606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302610	Transcript	.	.	ENSG00000172377	14718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.34)	.	OR9I1_HUMAN	OR9I1	HGNC	.	.	UPI0000041B43	SNV	OR9I1,missense_variant,p.Asn204Lys,ENST00000302610,;OR9Q1,intron_variant,,ENST00000335397,;	612	82	89	SUCCESS
DAGLA	747	.	GRCh37	11	61496465	61496465	+	synonymous_variant	Silent	SNP	C	C	A	rs774922030	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	18	136	0	ENST00000257215.5:c.834C>A	p.Leu278=	p.L278=	ENST00000257215	NM_006133.2	278	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31578.1	834	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTCGACCT	NONE	byFrequency	.	hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87	.	.	ENSP00000257215	.	8/20	.	.	.	.	.	.	.	.	rs774922030	8/20	PASS	ENST00000257215	Transcript	.	.	ENSG00000134780	1165	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DGLA_HUMAN	DAGLA	HGNC	.	.	UPI00001678B3	SNV	DAGLA,synonymous_variant,p.%3D,ENST00000257215,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	950	136	154	SUCCESS
POLR2G	5436	.	GRCh37	11	62533971	62533971	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	125	0	ENST00000301788.7:c.511G>T	p.Val171Leu	p.V171L	ENST00000301788	NM_002696.2	171	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS31585.1	511	MUTECT|MUSE	.	GGCTTGTAAGC	NONE	.	.	hmmpanther:PTHR12709,hmmpanther:PTHR12709:SF4	.	.	ENSP00000301788	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000301788	Transcript	.	.	ENSG00000168002	9194	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.29)	.	RPB7_HUMAN	POLR2G	HGNC	E9PIU7_HUMAN	.	UPI000002926B	SNV	POLR2G,missense_variant,p.Val171Leu,ENST00000301788,;POLR2G,downstream_gene_variant,,ENST00000533442,;TAF6L,upstream_gene_variant,,ENST00000526261,;TAF6L,upstream_gene_variant,,ENST00000294168,;RP11-727F15.11,downstream_gene_variant,,ENST00000596071,;POLR2G,3_prime_UTR_variant,,ENST00000524819,;POLR2G,3_prime_UTR_variant,,ENST00000525455,;POLR2G,3_prime_UTR_variant,,ENST00000531944,;POLR2G,non_coding_transcript_exon_variant,,ENST00000526368,;POLR2G,non_coding_transcript_exon_variant,,ENST00000527435,;POLR2G,downstream_gene_variant,,ENST00000531996,;TAF6L,upstream_gene_variant,,ENST00000524976,;TAF6L,upstream_gene_variant,,ENST00000525405,;TAF6L,upstream_gene_variant,,ENST00000532915,;	616	125	113	SUCCESS
ATXN2	6311	.	GRCh37	12	111951212	111951212	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	6	132	0	ENST00000377617.3:c.1987G>A	p.Val663Ile	p.V663I	ENST00000377617	NM_002973.3	663	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31902.1	1987	MUTECT|MUSE	.	TGCTACTGGAG	NONE	.	.	hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11	.	.	ENSP00000366843	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000377617	Transcript	.	.	ENSG00000204842	10555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.065)	.	.	.	ATX2_HUMAN	ATXN2	HGNC	D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN	.	UPI0000DBEEFC	SNV	ATXN2,missense_variant,p.Val192Ile,ENST00000550236,;ATXN2,missense_variant,p.Val398Ile,ENST00000542287,;ATXN2,missense_variant,p.Val107Ile,ENST00000492467,;ATXN2,missense_variant,p.Val374Ile,ENST00000535949,;ATXN2,missense_variant,p.Val398Ile,ENST00000389153,;ATXN2,missense_variant,p.Val503Ile,ENST00000608853,;ATXN2,missense_variant,p.Val663Ile,ENST00000550104,;ATXN2,missense_variant,p.Val663Ile,ENST00000377617,;ATXN2,downstream_gene_variant,,ENST00000481331,;ATXN2,missense_variant,p.Val584Ile,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000392645,;ATXN2,upstream_gene_variant,,ENST00000546483,;	2149	132	134	SUCCESS
RECQL	5965	.	GRCh37	12	21644631	21644631	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	31	99	1	ENST00000421138.2:c.36T>C	p.Asp12=	p.D12=	ENST00000421138		12	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS31756.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGAATCCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000416739	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000444129	Transcript	.	.	ENSG00000004700	9948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RECQ1_HUMAN	RECQL	HGNC	F8WD97_HUMAN,F8WA66_HUMAN,F5H4P4_HUMAN,F5H3W0_HUMAN,F5H2L2_HUMAN,F5GYB7_HUMAN	.	UPI0000167E2F	SNV	RECQL,synonymous_variant,p.%3D,ENST00000396093,;RECQL,synonymous_variant,p.%3D,ENST00000421138,;RECQL,synonymous_variant,p.%3D,ENST00000444129,;RECQL,synonymous_variant,p.%3D,ENST00000314748,;RECQL,synonymous_variant,p.%3D,ENST00000536964,;RECQL,synonymous_variant,p.%3D,ENST00000542432,;RECQL,synonymous_variant,p.%3D,ENST00000536240,;RECQL,synonymous_variant,p.%3D,ENST00000539672,;	505	100	117	SUCCESS
ITPR2	3709	.	GRCh37	12	26568361	26568361	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	34	112	0	ENST00000381340.3:c.7181C>G	p.Ser2394Cys	p.S2394C	ENST00000381340	NM_002223.2	2394	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS41764.1	7181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATAGAGCGG	NONE	.	.	hmmpanther:PTHR13715,Pfam_domain:PF00520	.	.	ENSP00000370744	.	51/57	.	.	.	.	.	.	.	.	.	51/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Ser2394Cys,ENST00000381340,;RP11-513G19.1,intron_variant,,ENST00000535324,;ITPR2,3_prime_UTR_variant,,ENST00000451599,;ITPR2,non_coding_transcript_exon_variant,,ENST00000538984,;	7598	112	127	SUCCESS
FOXM1	2305	.	GRCh37	12	2983189	2983189	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	254	9	225	0	ENST00000359843.3:c.456T>A	p.Leu152=	p.L152=	ENST00000359843	NM_021953.3	152	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8516.1	456	MUTECT|MUSE	.	CTAGGAAGATT	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF140	.	.	ENSP00000342307	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000342628	Transcript	.	.	ENSG00000111206	3818	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXM1_HUMAN	FOXM1	HGNC	.	.	UPI000016B22B	SNV	FOXM1,synonymous_variant,p.%3D,ENST00000361953,;FOXM1,synonymous_variant,p.%3D,ENST00000342628,;FOXM1,synonymous_variant,p.%3D,ENST00000359843,;RHNO1,upstream_gene_variant,,ENST00000461997,;RHNO1,upstream_gene_variant,,ENST00000366285,;RHNO1,upstream_gene_variant,,ENST00000538700,;RHNO1,upstream_gene_variant,,ENST00000538636,;RHNO1,upstream_gene_variant,,ENST00000489288,;FOXM1,non_coding_transcript_exon_variant,,ENST00000537018,;RHNO1,upstream_gene_variant,,ENST00000536063,;RHNO1,upstream_gene_variant,,ENST00000464682,;FOXM1,synonymous_variant,p.%3D,ENST00000538564,;FOXM1,non_coding_transcript_exon_variant,,ENST00000545049,;TULP3,upstream_gene_variant,,ENST00000540184,;RHNO1,upstream_gene_variant,,ENST00000535978,;	570	225	263	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48141580	48141580	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	25	0	ENST00000389212.3:c.1388A>G	p.Gln463Arg	p.Q463R	ENST00000389212		463	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS41775.1	1388	RADIA|VARSCANS	.	TCTGCTGCCTC	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113:SF24,hmmpanther:PTHR23113,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000395708	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(1)	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,missense_variant,p.Gln463Arg,ENST00000449771,;RAPGEF3,missense_variant,p.Gln463Arg,ENST00000395358,;RAPGEF3,missense_variant,p.Gln421Arg,ENST00000548919,;RAPGEF3,missense_variant,p.Gln421Arg,ENST00000405493,;RAPGEF3,missense_variant,p.Gln463Arg,ENST00000389212,;RAPGEF3,missense_variant,p.Gln421Arg,ENST00000171000,;RAPGEF3,missense_variant,p.Gln421Arg,ENST00000549151,;RAPGEF3,downstream_gene_variant,,ENST00000466322,;RAPGEF3,downstream_gene_variant,,ENST00000495953,;RAPGEF3,downstream_gene_variant,,ENST00000549347,;RAPGEF3,3_prime_UTR_variant,,ENST00000547856,;RAPGEF3,3_prime_UTR_variant,,ENST00000495465,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000494764,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000395360,;	1477	25	33	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50186244	50186244	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	57	0	ENST00000335999.6:c.3777G>T	p.Leu1259=	p.L1259=	ENST00000335999	NM_001037806.3	1259	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS41781.2	3777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCAGCCC	NONE	.	.	hmmpanther:PTHR21740	.	.	ENSP00000337998	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,synonymous_variant,p.%3D,ENST00000335999,;NCKAP5L,synonymous_variant,p.%3D,ENST00000433948,;	3979	57	56	SUCCESS
GRIP1	23426	.	GRCh37	12	66742812	66742812	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	245	29	260	0	ENST00000359742.4:c.3374C>A	p.Thr1125Asn	p.T1125N	ENST00000359742		1125	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS41807.1	3218	RADIA|MUTECT|MUSE|VARSCANS	.	TATTAGTGGGT	NONE	.	.	.	.	.	ENSP00000381098	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.533)	.	tolerated_low_confidence(0.09)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Thr925Asn,ENST00000538164,;GRIP1,missense_variant,p.Thr1110Asn,ENST00000286445,;GRIP1,missense_variant,p.Thr1073Asn,ENST00000398016,;GRIP1,missense_variant,p.Thr1125Asn,ENST00000359742,;GRIP1,3_prime_UTR_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000538211,;snoU13,downstream_gene_variant,,ENST00000458887,;GRIP1,downstream_gene_variant,,ENST00000535323,;	3287	260	274	SUCCESS
NECAP1	25977	.	GRCh37	12	8248266	8248266	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776221234	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	37	0	ENST00000339754.5:c.746A>G	p.Asn249Ser	p.N249S	ENST00000339754	NM_015509.3	249	aAt/aGt	0	.	G:0	.	G:0	.	G	N/S	protein_coding	YES	CCDS8589.1	746	MUTECT|MUSE	.	AAGCAATGACT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1	G:0	.	ENSP00000341737	G:0.001	7/8	.	.	.	.	.	.	.	.	rs776221234	7/8	PASS	ENST00000339754	Transcript	.	.	ENSG00000089818	24539	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	G:0	tolerated(0.83)	.	NECP1_HUMAN	NECAP1	HGNC	F5H2U7_HUMAN,A8K3C2_HUMAN	.	UPI000006EB8D	SNV	NECAP1,missense_variant,p.Asn107Ser,ENST00000540083,;NECAP1,missense_variant,p.Asn249Ser,ENST00000339754,;NECAP1,3_prime_UTR_variant,,ENST00000450991,;NECAP1,3_prime_UTR_variant,,ENST00000541948,;NECAP1,non_coding_transcript_exon_variant,,ENST00000537796,;NECAP1,downstream_gene_variant,,ENST00000545807,;NECAP1,downstream_gene_variant,,ENST00000542095,;	824	37	35	SUCCESS
RAB20	55647	.	GRCh37	13	111213727	111213727	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	16	0	ENST00000267328.3:c.140G>T	p.Arg47Leu	p.R47L	ENST00000267328	NM_017817.1	47	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS9512.1	140	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGCCAC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF429,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000267328	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000267328	Transcript	.	.	ENSG00000139832	18260	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.591)	.	deleterious(0.04)	.	RAB20_HUMAN	RAB20	HGNC	.	.	UPI0000001299	SNV	RAB20,missense_variant,p.Arg47Leu,ENST00000267328,;	354	16	26	SUCCESS
ZMYM5	9205	.	GRCh37	13	20426199	20426199	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	73	0	ENST00000337963.4:c.122C>G	p.Pro41Arg	p.P41R	ENST00000337963	NM_001142684.1	41	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS31942.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAGGACAA	NONE	.	.	.	.	.	ENSP00000372361	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000382905	Transcript	.	.	ENSG00000132950	13029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious_low_confidence(0.02)	.	ZMYM5_HUMAN	ZMYM5	HGNC	.	.	UPI0000070FA9	SNV	ZMYM5,missense_variant,p.Pro41Arg,ENST00000382907,;ZMYM5,missense_variant,p.Pro41Arg,ENST00000337963,;ZMYM5,missense_variant,p.Pro41Arg,ENST00000382905,;ZMYM5,missense_variant,p.Pro31Arg,ENST00000502168,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000467542,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000495534,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000535942,;ZMYM5,upstream_gene_variant,,ENST00000382909,;	275	73	95	SUCCESS
LCP1	3936	.	GRCh37	13	46730648	46730648	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	20	157	0	ENST00000323076.2:c.416A>G	p.Asp139Gly	p.D139G	ENST00000323076	NM_002298.4	139	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9403.1	416	RADIA|MUTECT|MUSE|VARSCANS	.	GACAATCAGGA	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR19961:SF34,hmmpanther:PTHR19961,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000381581	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000398576	Transcript	.	.	ENSG00000136167	6528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PLSL_HUMAN	LCP1	HGNC	Q5TBN5_HUMAN,Q5TBN3_HUMAN	.	UPI0000070B5C	SNV	LCP1,missense_variant,p.Asp139Gly,ENST00000323076,;LCP1,missense_variant,p.Asp139Gly,ENST00000398576,;LCP1,missense_variant,p.Asp139Gly,ENST00000416500,;LCP1,downstream_gene_variant,,ENST00000442275,;LCP1,downstream_gene_variant,,ENST00000460190,;LCP1,upstream_gene_variant,,ENST00000494531,;LCP1,upstream_gene_variant,,ENST00000469227,;	805	157	184	SUCCESS
LCP1	3936	.	GRCh37	13	46730649	46730649	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781188538	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	20	159	0	ENST00000323076.2:c.415G>T	p.Asp139Tyr	p.D139Y	ENST00000323076	NM_002298.4	139	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9403.1	415	RADIA|MUTECT|MUSE|VARSCANS	.	ACAATCAGGAT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR19961:SF34,hmmpanther:PTHR19961,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000381581	.	8/19	.	.	.	.	.	.	.	.	rs781188538	8/19	PASS	ENST00000398576	Transcript	.	.	ENSG00000136167	6528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.895)	.	deleterious(0.01)	.	PLSL_HUMAN	LCP1	HGNC	Q5TBN5_HUMAN,Q5TBN3_HUMAN	.	UPI0000070B5C	SNV	LCP1,missense_variant,p.Asp139Tyr,ENST00000323076,;LCP1,missense_variant,p.Asp139Tyr,ENST00000398576,;LCP1,missense_variant,p.Asp139Tyr,ENST00000416500,;LCP1,downstream_gene_variant,,ENST00000442275,;LCP1,downstream_gene_variant,,ENST00000460190,;LCP1,upstream_gene_variant,,ENST00000494531,;LCP1,upstream_gene_variant,,ENST00000469227,;	804	159	184	SUCCESS
FARP1	10160	.	GRCh37	13	99099038	99099038	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	69	0	ENST00000319562.6:c.3023A>G	p.Tyr1008Cys	p.Y1008C	ENST00000319562	NM_005766.2	1008	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9487.1	3023	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTACTTCA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000322926	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,missense_variant,p.Tyr1008Cys,ENST00000319562,;FARP1,missense_variant,p.Tyr1039Cys,ENST00000376586,;FARP1,missense_variant,p.Tyr1039Cys,ENST00000595437,;STK24,downstream_gene_variant,,ENST00000397517,;STK24,downstream_gene_variant,,ENST00000376554,;FARP1,upstream_gene_variant,,ENST00000600380,;FARP1,upstream_gene_variant,,ENST00000597596,;FARP1,non_coding_transcript_exon_variant,,ENST00000594346,;	3288	69	78	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414676	105414676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs528075601	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	32	84	0	ENST00000333244.5:c.7112C>T	p.Pro2371Leu	p.P2371L	ENST00000333244	NM_138420.2	2371	cCt/cTt	0	.	A:0.0083	.	A:0.0014	.	A	P/L	protein_coding	YES	CCDS45177.1	7112	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAAGGGGGC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	A:0.001	.	ENSP00000353114	A:0	7/7	.	.	.	.	.	.	.	.	rs528075601	7/7	PASS	ENST00000333244	Transcript	.	A:0.0026	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	A:0	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Pro2371Leu,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7232	84	97	SUCCESS
IPO4	79711	.	GRCh37	14	24654743	24654744	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CACA	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	35	0	ENST00000354464.6:c.1196_1199dup	p.Lys401ValfsTer136	p.K401Vfs*136	ENST00000354464	NM_024658.3	400	tgc/tgTGTGc	0	.	.	.	.	.	CACA	C/CVX	protein_coding	YES	CCDS9616.1	1199-1200	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCCTTGCACAC	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Pfam_domain:PF13646,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000346453	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000354464	Transcript	.	.	ENSG00000196497	19426	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO4_HUMAN	IPO4	HGNC	Q6I9Y8_HUMAN,D3DS63_HUMAN	.	UPI000013CCB3	insertion	IPO4,frameshift_variant,p.Lys401ValfsTer136,ENST00000354464,;TM9SF1,downstream_gene_variant,,ENST00000261789,;TM9SF1,downstream_gene_variant,,ENST00000396854,;TM9SF1,downstream_gene_variant,,ENST00000524835,;TM9SF1,downstream_gene_variant,,ENST00000530611,;IPO4,upstream_gene_variant,,ENST00000558233,;IPO4,upstream_gene_variant,,ENST00000561462,;TM9SF1,downstream_gene_variant,,ENST00000528669,;TM9SF1,downstream_gene_variant,,ENST00000532632,;TM9SF1,downstream_gene_variant,,ENST00000556387,;IPO4,frameshift_variant,p.Lys401ValfsTer136,ENST00000560155,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000558046,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,downstream_gene_variant,,ENST00000558193,;IPO4,downstream_gene_variant,,ENST00000557996,;IPO4,downstream_gene_variant,,ENST00000560315,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,upstream_gene_variant,,ENST00000560935,;IPO4,downstream_gene_variant,,ENST00000561034,;IPO4,downstream_gene_variant,,ENST00000560222,;TM9SF1,downstream_gene_variant,,ENST00000529332,;IPO4,downstream_gene_variant,,ENST00000559635,;IPO4,downstream_gene_variant,,ENST00000559253,;IPO4,downstream_gene_variant,,ENST00000558718,;	1376-1377	35	53	SUCCESS
RBM25	58517	.	GRCh37	14	73576174	73576174	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	39	133	0	ENST00000261973.7:c.1666C>G	p.Pro556Ala	p.P556A	ENST00000261973	NM_021239.2	556	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS32113.1	1666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCCAGAT	NONE	.	.	hmmpanther:PTHR18806	.	.	ENSP00000261973	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000261973	Transcript	.	.	ENSG00000119707	23244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	.	.	RBM25_HUMAN	RBM25	HGNC	Q16083_HUMAN,E9PSE8_HUMAN,E9PQU5_HUMAN	.	UPI0000373D58	SNV	RBM25,missense_variant,p.Pro556Ala,ENST00000527432,;RBM25,missense_variant,p.Pro556Ala,ENST00000261973,;RBM25,non_coding_transcript_exon_variant,,ENST00000532483,;RBM25,3_prime_UTR_variant,,ENST00000528081,;RBM25,non_coding_transcript_exon_variant,,ENST00000532683,;RBM25,non_coding_transcript_exon_variant,,ENST00000530978,;RBM25,non_coding_transcript_exon_variant,,ENST00000527449,;	1951	133	150	SUCCESS
SEL1L	6400	.	GRCh37	14	81964803	81964803	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	70	0	ENST00000336735.4:c.927G>A	p.Gln309=	p.Q309=	ENST00000336735	NM_005065.5	309	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9876.1	927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTCTGGAG	NONE	.	.	hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,Gene3D:1.25.40.10,Pfam_domain:PF08238,SMART_domains:SM00671,Superfamily_domains:SSF81901	.	.	ENSP00000337053	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000336735	Transcript	.	.	ENSG00000071537	10717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SE1L1_HUMAN	SEL1L	HGNC	.	.	UPI0000135746	SNV	SEL1L,synonymous_variant,p.%3D,ENST00000336735,;SEL1L,downstream_gene_variant,,ENST00000555824,;SEL1L,non_coding_transcript_exon_variant,,ENST00000554744,;	1044	70	64	SUCCESS
MEF2A	4205	.	GRCh37	15	100211575	100211575	+	intron_variant	Intron	SNP	C	C	A	rs1135561	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	65	180	1	ENST00000354410.5:c.259-150C>A		p.*87*	ENST00000354410	NM_005587.2			0	T:0	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS45362.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACGATTA	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000346389	T:0.001	.	.	.	.	.	.	.	.	.	rs1135561,COSM959489	.	PASS	ENST00000354410	Transcript	1	T:0.0002	ENSG00000068305	6993	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	MEF2A_HUMAN	MEF2A	HGNC	H0YNI2_HUMAN,H0YM62_HUMAN,H0YKY6_HUMAN,D6RJ95_HUMAN	.	UPI0000073025	SNV	MEF2A,missense_variant,p.Asp34Glu,ENST00000449277,;MEF2A,missense_variant,p.Asp102Glu,ENST00000338042,;MEF2A,missense_variant,p.Asp34Glu,ENST00000558812,;MEF2A,missense_variant,p.Asp102Glu,ENST00000453228,;MEF2A,missense_variant,p.Asp102Glu,ENST00000557785,;MEF2A,missense_variant,p.Asp102Glu,ENST00000557942,;MEF2A,intron_variant,,ENST00000354410,;MEF2A,non_coding_transcript_exon_variant,,ENST00000558983,;	.	181	175	SUCCESS
TARSL2	0	.	GRCh37	15	102215816	102215816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	61	0	ENST00000335968.3:c.1775A>G	p.Asn592Ser	p.N592S	ENST00000335968	NM_152334.2	592	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS10394.1	1775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATTCCAC	NONE	.	.	PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451:SF19,hmmpanther:PTHR11451,Pfam_domain:PF00587,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Superfamily_domains:SSF55681	.	.	ENSP00000338093	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000335968	Transcript	.	.	ENSG00000185418	24728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0)	.	SYTC2_HUMAN	TARSL2	HGNC	.	.	UPI00001FE055	SNV	TARSL2,missense_variant,p.Asn592Ser,ENST00000335968,;TARSL2,missense_variant,p.Asn592Ser,ENST00000539112,;TARSL2,3_prime_UTR_variant,,ENST00000558533,;	1992	61	80	SUCCESS
ATP10A	57194	.	GRCh37	15	26026303	26026303	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	81	0	ENST00000356865.6:c.517T>C	p.Cys173Arg	p.C173R	ENST00000356865	NM_024490.3	173	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS32178.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCAGCGAA	BUFFER|p.E175K|c.523G>A|4	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Gene3D:2.70.150.10,Superfamily_domains:0049471	.	.	ENSP00000349325	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.737)	.	deleterious(0.05)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Cys173Arg,ENST00000356865,;ATP10A,missense_variant,p.Cys173Arg,ENST00000555815,;	629	81	53	SUCCESS
FAM227B	196951	.	GRCh37	15	49659729	49659729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	40	92	0	ENST00000299338.6:c.1187A>G	p.Tyr396Cys	p.Y396C	ENST00000299338	NM_152647.2	396	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS32237.1	1187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAATATAAA	NONE	.	.	.	.	.	ENSP00000299338	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000299338	Transcript	.	.	ENSG00000166262	26543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	F227B_HUMAN	FAM227B	HGNC	H0YLX5_HUMAN	.	UPI0000D6133A	SNV	GALK2,missense_variant,p.Ile157Thr,ENST00000558399,;FAM227B,missense_variant,p.Tyr396Cys,ENST00000299338,;GALK2,3_prime_UTR_variant,,ENST00000559580,;FAM227B,intron_variant,,ENST00000559573,;RP11-295H24.3,upstream_gene_variant,,ENST00000560489,;	1491	92	105	SUCCESS
PAQR5	54852	.	GRCh37	15	69695986	69695986	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	80	0	ENST00000340965.3:c.818T>A	p.Leu273His	p.L273H	ENST00000340965	NM_001104554.1	273	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS10232.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACTTCTGG	NONE	.	.	hmmpanther:PTHR20855:SF38,hmmpanther:PTHR20855	.	.	ENSP00000343877	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000340965	Transcript	.	.	ENSG00000137819	29645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	deleterious(0.05)	.	MPRG_HUMAN	PAQR5	HGNC	H0YL06_HUMAN	.	UPI000013D0D0	SNV	PAQR5,missense_variant,p.Leu273His,ENST00000340965,;PAQR5,missense_variant,p.Leu273His,ENST00000561153,;PAQR5,missense_variant,p.Leu273His,ENST00000395407,;RP11-253M7.1,intron_variant,,ENST00000558617,;RP11-253M7.1,intron_variant,,ENST00000560539,;Y_RNA,upstream_gene_variant,,ENST00000384665,;RP11-253M7.1,downstream_gene_variant,,ENST00000558107,;	1486	80	71	SUCCESS
CTD-2547E10.2	0	.	GRCh37	16	21469120	21469120	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	87	0	ENST00000522480.1:n.2493A>G		p.*831*	ENST00000522480				0	.	.	.	.	.	C	.	snoRNA	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTTCAACA	NONE	.	370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000459321	Transcript	.	.	ENSG00000238954	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	snoU13	RFAM	.	.	.	SNV	snoU13,upstream_gene_variant,,ENST00000459321,;CTD-2547E10.2,non_coding_transcript_exon_variant,,ENST00000520823,;CTD-2547E10.2,upstream_gene_variant,,ENST00000440195,;CTD-2547E10.2,non_coding_transcript_exon_variant,,ENST00000445756,;CTD-2547E10.2,non_coding_transcript_exon_variant,,ENST00000522480,;	.	87	87	SUCCESS
C16orf82	162083	.	GRCh37	16	27080467	27080467	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	33	0	ENST00000505035.1:n.2440A>G		p.*814*	ENST00000505035				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|MUSE	.	ACAATAAAAGG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000505035	Transcript	.	.	ENSG00000234186	30755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	C16orf82	HGNC	.	.	.	SNV	C16orf82,non_coding_transcript_exon_variant,,ENST00000505035,;C16orf82,non_coding_transcript_exon_variant,,ENST00000418886,;RP11-673P17.2,upstream_gene_variant,,ENST00000565783,;	2440	33	28	SUCCESS
CREBBP	1387	.	GRCh37	16	3807292	3807292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	49	155	1	ENST00000262367.5:c.3695A>G	p.Asn1232Ser	p.N1232S	ENST00000262367	NM_004380.2	1232	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS10509.1	3695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTATTCTGA	BUFFER|p.Y1230C|c.3689A>G|3	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Pfam_domain:PF06001	.	.	ENSP00000262367	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,missense_variant,p.Asn1232Ser,ENST00000262367,;CREBBP,missense_variant,p.Asn1194Ser,ENST00000382070,;CREBBP,intron_variant,,ENST00000570939,;	4505	156	135	SUCCESS
TFAP4	7023	.	GRCh37	16	4308230	4308230	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	51	0	ENST00000204517.6:c.843C>T	p.Gly281=	p.G281=	ENST00000204517	NM_003223.2	281	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10510.1	843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTGCCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15741	.	.	ENSP00000204517	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000204517	Transcript	.	.	ENSG00000090447	11745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFAP4_HUMAN	TFAP4	HGNC	I3L254_HUMAN	.	UPI00001368DA	SNV	TFAP4,synonymous_variant,p.%3D,ENST00000204517,;TFAP4,downstream_gene_variant,,ENST00000572393,;RP11-95P2.1,upstream_gene_variant,,ENST00000573268,;RP11-95P2.1,upstream_gene_variant,,ENST00000573042,;TFAP4,3_prime_UTR_variant,,ENST00000574639,;TFAP4,non_coding_transcript_exon_variant,,ENST00000575672,;TFAP4,non_coding_transcript_exon_variant,,ENST00000575320,;TFAP4,downstream_gene_variant,,ENST00000573476,;TFAP4,downstream_gene_variant,,ENST00000575300,;	1172	51	41	SUCCESS
CDH1	999	.	GRCh37	16	68845609	68845609	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	44	0	ENST00000261769.5:c.855A>G	p.Thr285=	p.T285=	ENST00000261769	NM_004360.3	285	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS10869.1	855	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACAGCCAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000261769	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,synonymous_variant,p.%3D,ENST00000422392,;CDH1,synonymous_variant,p.%3D,ENST00000261769,;RP11-354M1.2,downstream_gene_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,downstream_gene_variant,,ENST00000564676,;CDH1,downstream_gene_variant,,ENST00000564745,;CDH1,synonymous_variant,p.%3D,ENST00000566612,;CDH1,synonymous_variant,p.%3D,ENST00000566510,;CDH1,3_prime_UTR_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000567320,;CDH1,upstream_gene_variant,,ENST00000565810,;	1046	44	52	SUCCESS
RP11-252A24.2	0	.	GRCh37	16	74372735	74372735	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs770520995	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	54	0	ENST00000429810.2:n.1462G>A		p.*488*	ENST00000429810				0	.	.	.	.	.	T	.	retained_intron	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCGTAAC	NONE	.	.	.	.	.	.	.	10/10	.	.	.	.	.	.	.	.	rs770520995	10/10	PASS	ENST00000429810	Transcript	.	.	ENSG00000214331	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-252A24.2	Clone_based_vega_gene	.	.	.	SNV	AC009120.6,upstream_gene_variant,,ENST00000561921,;RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000565724,;RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000566802,;RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000429810,;RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000563377,;	1462	54	73	SUCCESS
MYH2	4620	.	GRCh37	17	10429161	10429161	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	98	0	ENST00000245503.5:c.4220A>T	p.Glu1407Val	p.E1407V	ENST00000245503	NM_017534.5	1407	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS11156.1	4220	MUTECT|MUSE|VARSCANS	.	GTTCCTCAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	.	.	ENSP00000245503	.	31/40	.	.	.	.	.	.	.	.	COSM1520119	31/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,missense_variant,p.Glu1407Val,ENST00000245503,;MYH2,missense_variant,p.Glu1407Val,ENST00000397183,;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4605	98	101	SUCCESS
TTC19	54902	.	GRCh37	17	15928399	15928399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	20	79	0	ENST00000261647.5:c.745T>C	p.Phe249Leu	p.F249L	ENST00000261647	NM_001271420.1	249	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11174.2	745	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTTCTCC	NONE	.	.	hmmpanther:PTHR13143,Pfam_domain:PF13424,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452	.	.	ENSP00000261647	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000261647	Transcript	.	.	ENSG00000011295	26006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.58)	.	TTC19_HUMAN	TTC19	HGNC	.	.	UPI0000042226	SNV	TTC19,missense_variant,p.Phe370Leu,ENST00000486880,;TTC19,missense_variant,p.Phe249Leu,ENST00000261647,;TTC19,upstream_gene_variant,,ENST00000578103,;TTC19,upstream_gene_variant,,ENST00000470649,;NCOR1,downstream_gene_variant,,ENST00000268712,;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;TTC19,3_prime_UTR_variant,,ENST00000475723,;TTC19,non_coding_transcript_exon_variant,,ENST00000465567,;TTC19,non_coding_transcript_exon_variant,,ENST00000481107,;	1214	79	119	SUCCESS
SLFN14	342618	.	GRCh37	17	33875781	33875781	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs548942825	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	106	0	ENST00000415846.3:c.2216C>T	p.Ala739Val	p.A739V	ENST00000415846	NM_001129820.1	739	gCg/gTg	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS45650.1	2216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGCTATT	NONE	by1000G	.	hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF22	A:0.001	.	ENSP00000391101	A:0	4/4	.	.	.	.	.	.	.	.	rs548942825	4/4	PASS	ENST00000415846	Transcript	.	A:0.0002	ENSG00000236320	32689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	deleterious(0.02)	.	SLN14_HUMAN	SLFN14	HGNC	.	.	UPI000041A9FB	SNV	SLFN14,missense_variant,p.Ala739Val,ENST00000415846,;RP11-1094M14.12,upstream_gene_variant,,ENST00000588445,;	2252	106	119	SUCCESS
TRIM37	4591	.	GRCh37	17	57138433	57138433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	15	127	0	ENST00000262294.7:c.979G>T	p.Val327Leu	p.V327L	ENST00000262294	NM_015294.3	327	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS32694.1	979	MUTECT|MUSE|VARSCANS	.	AAACACAGATA	NONE	.	.	PROSITE_profiles:PS50144,hmmpanther:PTHR24103:SF229,hmmpanther:PTHR24103,Pfam_domain:PF00917,Gene3D:2.60.210.10,SMART_domains:SM00061,Superfamily_domains:SSF49599	.	.	ENSP00000262294	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000262294	Transcript	.	.	ENSG00000108395	7523	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.795)	.	deleterious(0.04)	.	TRI37_HUMAN	TRIM37	HGNC	B3KMU3_HUMAN,A8K0V9_HUMAN	.	UPI0000167B57	SNV	TRIM37,missense_variant,p.Val293Leu,ENST00000393065,;TRIM37,missense_variant,p.Val327Leu,ENST00000393066,;TRIM37,missense_variant,p.Val205Leu,ENST00000376149,;TRIM37,missense_variant,p.Val327Leu,ENST00000262294,;TRIM37,downstream_gene_variant,,ENST00000581468,;RN7SL716P,downstream_gene_variant,,ENST00000580539,;TRIM37,3_prime_UTR_variant,,ENST00000577554,;TRIM37,downstream_gene_variant,,ENST00000582852,;	1239	127	167	SUCCESS
CA4	762	.	GRCh37	17	58233977	58233977	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769214297	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	58	0	ENST00000300900.4:c.169G>A	p.Val57Ile	p.V57I	ENST00000300900	NM_000717.3	57	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS11624.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCGTCACC	NONE	byFrequency	.	Superfamily_domains:SSF51069,SMART_domains:SM01057,Gene3D:3.10.200.10,Pfam_domain:PF00194,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF95,PROSITE_profiles:PS51144	.	.	ENSP00000300900	.	3/8	.	.	.	.	.	.	.	.	rs769214297	3/8	PASS	ENST00000300900	Transcript	.	.	ENSG00000167434	1375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.1)	.	CAH4_HUMAN	CA4	HGNC	Q6FHI7_HUMAN,K7ENI8_HUMAN	.	UPI000004EC91	SNV	CA4,missense_variant,p.Val57Ile,ENST00000300900,;CA4,5_prime_UTR_variant,,ENST00000591725,;CA4,upstream_gene_variant,,ENST00000587265,;CA4,upstream_gene_variant,,ENST00000590203,;CA4,missense_variant,p.Val57Ile,ENST00000586876,;CA4,non_coding_transcript_exon_variant,,ENST00000585705,;	268	58	69	SUCCESS
ABCA8	10351	.	GRCh37	17	66920897	66920897	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs765327188	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	63	0	ENST00000269080.2:c.1387T>G	p.Phe463Val	p.F463V	ENST00000269080	NM_007168.2	463	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS11680.1	1387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAATGAAG	NONE	.	.	hmmpanther:PTHR19229:SF115,hmmpanther:PTHR19229	.	.	ENSP00000269080	.	10/38	.	.	.	.	.	.	.	.	rs765327188	10/38	PASS	ENST00000269080	Transcript	.	.	ENSG00000141338	38	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.5)	.	ABCA8_HUMAN	ABCA8	HGNC	K7ELK9_HUMAN	.	UPI000004C4B7	SNV	ABCA8,missense_variant,p.Phe463Val,ENST00000269080,;ABCA8,missense_variant,p.Phe463Val,ENST00000430352,;ABCA8,missense_variant,p.Phe463Val,ENST00000586539,;ABCA8,missense_variant,p.Phe111Val,ENST00000589533,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,upstream_gene_variant,,ENST00000587206,;	1525	63	87	SUCCESS
LAMA3	3909	.	GRCh37	18	21464744	21464744	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	27	157	0	ENST00000313654.9:c.5230A>G	p.Thr1744Ala	p.T1744A	ENST00000313654	NM_198129.1	1744	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS42419.1	5230	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCACTGGC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000324532	.	41/75	.	.	.	.	.	.	.	.	.	41/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Thr4Ala,ENST00000586751,;LAMA3,missense_variant,p.Thr135Ala,ENST00000587184,;LAMA3,missense_variant,p.Thr1744Ala,ENST00000313654,;LAMA3,missense_variant,p.Thr135Ala,ENST00000269217,;LAMA3,missense_variant,p.Thr1744Ala,ENST00000399516,;	5471	157	184	SUCCESS
LOXHD1	125336	.	GRCh37	18	44109166	44109166	+	synonymous_variant	Silent	SNP	G	G	T	rs200819355	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	16	164	0	ENST00000300591.6:c.1171C>A	p.Arg391=	p.R391=	ENST00000300591	NM_001145472.2	391	Cgg/Agg	0	A:0	.	.	.	.	T	R	protein_coding	YES	CCDS45861.1	1171	MUTECT|MUSE	.	GGTCCGGTTCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723	.	A:0.0009	ENSP00000300591	.	11/24	.	.	.	.	.	.	.	.	rs200819355	11/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,synonymous_variant,p.%3D,ENST00000582408,;LOXHD1,synonymous_variant,p.%3D,ENST00000300591,;LOXHD1,synonymous_variant,p.%3D,ENST00000441551,;LOXHD1,synonymous_variant,p.%3D,ENST00000441893,;LOXHD1,synonymous_variant,p.%3D,ENST00000579038,;LOXHD1,synonymous_variant,p.%3D,ENST00000536736,;LOXHD1,synonymous_variant,p.%3D,ENST00000398722,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;LOXHD1,downstream_gene_variant,,ENST00000536111,;	1585	164	209	SUCCESS
WDR7	23335	.	GRCh37	18	54358487	54358487	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	16	156	0	ENST00000254442.3:c.758C>G	p.Pro253Arg	p.P253R	ENST00000254442	NM_015285.2	253	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS11962.1	758	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCTAGTG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000254442	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000254442	Transcript	.	.	ENSG00000091157	13490	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.372)	.	tolerated(0.53)	.	WDR7_HUMAN	WDR7	HGNC	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN	.	UPI000013CE33	SNV	WDR7,missense_variant,p.Pro253Arg,ENST00000254442,;WDR7,missense_variant,p.Pro253Arg,ENST00000357574,;WDR7,intron_variant,,ENST00000589935,;WDR7,upstream_gene_variant,,ENST00000585754,;	969	156	159	SUCCESS
ZNF564	163050	.	GRCh37	19	12637749	12637749	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	8	75	0	ENST00000339282.7:c.1173A>G	p.Gly391=	p.G391=	ENST00000339282	NM_144976.3	391	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS42505.1	1173	MUTECT|MUSE|VARSCANS	.	TAAGGTCCATC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24404:SF10,hmmpanther:PTHR24404,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000340004	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339282	Transcript	.	.	ENSG00000249709	31106	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN564_HUMAN	ZNF564	HGNC	M0QZN8_HUMAN	.	UPI0000051C17	SNV	ZNF564,synonymous_variant,p.%3D,ENST00000339282,;ZNF709,intron_variant,,ENST00000428311,;ZNF564,downstream_gene_variant,,ENST00000596193,;CTD-2192J16.21,downstream_gene_variant,,ENST00000601420,;CTD-2192J16.20,3_prime_UTR_variant,,ENST00000593682,;ZNF564,downstream_gene_variant,,ENST00000427105,;	1370	75	94	SUCCESS
COMP	1311	.	GRCh37	19	18901942	18901942	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	25	0	ENST00000222271.2:c.79+58G>A		p.*27*	ENST00000222271	NM_000095.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12385.1	.	MUTECT|MUSE	.	TCTCACGGGTC	NONE	.	.	.	.	.	ENSP00000222271	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222271	Transcript	1	.	ENSG00000105664	2227	.	.	MODIFIER	1/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COMP_HUMAN	COMP	HGNC	G3XAP6_HUMAN	.	UPI000013C7F6	SNV	COMP,5_prime_UTR_variant,,ENST00000542601,;COMP,intron_variant,,ENST00000425807,;COMP,intron_variant,,ENST00000222271,;COMP,upstream_gene_variant,,ENST00000546510,;	.	25	8	SUCCESS
PSMD8	5714	.	GRCh37	19	38867031	38867031	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200403794	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	55	0	ENST00000215071.4:c.473G>A	p.Arg158His	p.R158H	ENST00000215071	NM_002812.4	158	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS12515.2	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACGCAAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12387	.	A:0.0002	ENSP00000215071	.	3/7	.	.	.	.	.	.	.	.	rs200403794	3/7	PASS	ENST00000215071	Transcript	.	.	ENSG00000099341	9566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	PSMD8_HUMAN	PSMD8	HGNC	R4GMR5_HUMAN,K7ERW6_HUMAN	.	UPI000059D712	SNV	PSMD8,missense_variant,p.Arg95His,ENST00000602911,;PSMD8,missense_variant,p.Arg158His,ENST00000215071,;PSMD8,missense_variant,p.Arg102His,ENST00000592561,;PSMD8,5_prime_UTR_variant,,ENST00000592035,;PSMD8,5_prime_UTR_variant,,ENST00000591250,;PSMD8,intron_variant,,ENST00000585598,;PSMD8,non_coding_transcript_exon_variant,,ENST00000591216,;PSMD8,non_coding_transcript_exon_variant,,ENST00000592001,;PSMD8,upstream_gene_variant,,ENST00000590331,;	539	55	79	SUCCESS
CREB3L3	84699	.	GRCh37	19	4159733	4159733	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	23	0	ENST00000078445.2:c.530A>G	p.Asn177Ser	p.N177S	ENST00000078445	NM_032607.2	177	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12121.1	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAATCTCA	NONE	.	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98	.	.	ENSP00000078445	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000078445	Transcript	1	.	ENSG00000060566	18855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.47)	.	CR3L3_HUMAN	CREB3L3	HGNC	.	.	UPI000006FCF0	SNV	CREB3L3,missense_variant,p.Asn177Ser,ENST00000078445,;CREB3L3,missense_variant,p.Asn177Ser,ENST00000602147,;CREB3L3,missense_variant,p.Asn177Ser,ENST00000602257,;CREB3L3,missense_variant,p.Asn176Ser,ENST00000595923,;CREB3L3,intron_variant,,ENST00000252587,;CREB3L3,upstream_gene_variant,,ENST00000598894,;	677	23	14	SUCCESS
MEGF8	1954	.	GRCh37	19	42866314	42866314	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	18	0	ENST00000251268.6:c.5793C>T	p.Cys1931=	p.C1931=	ENST00000251268		1931	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS12604.2	5592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCAGTGA	NONE	.	.	hmmpanther:PTHR10574:SF241,hmmpanther:PTHR10574,SMART_domains:SM00423	.	.	ENSP00000334219	.	32/41	.	.	.	.	.	.	.	.	.	32/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,synonymous_variant,p.%3D,ENST00000334370,;MEGF8,synonymous_variant,p.%3D,ENST00000251268,;MEGF8,synonymous_variant,p.%3D,ENST00000598762,;	6227	18	35	SUCCESS
ZNF211	10520	.	GRCh37	19	58152126	58152126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	16	145	0	ENST00000347302.3:c.272G>T	p.Gly91Val	p.G91V	ENST00000347302	NM_198855.2	91	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS58686.1	467	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGAGAAA	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF201	.	.	ENSP00000299871	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299871	Transcript	.	.	ENSG00000121417	13003	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	ZN211_HUMAN	ZNF211	HGNC	.	.	UPI0000D4CB1A	SNV	ZNF211,missense_variant,p.Gly82Val,ENST00000254182,;ZNF211,missense_variant,p.Gly95Val,ENST00000420680,;ZNF211,missense_variant,p.Gly104Val,ENST00000240731,;ZNF211,missense_variant,p.Gly103Val,ENST00000544273,;ZNF211,missense_variant,p.Gly82Val,ENST00000541801,;ZNF211,missense_variant,p.Gly156Val,ENST00000299871,;ZNF211,missense_variant,p.Gly91Val,ENST00000347302,;ZNF211,missense_variant,p.Gly30Val,ENST00000391703,;ZNF211,missense_variant,p.Gly95Val,ENST00000407202,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;	598	145	162	SUCCESS
ZNF606	80095	.	GRCh37	19	58489764	58489767	+	frameshift_variant	Frame_Shift_Del	DEL	TCTC	TCTC	-	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	TCTC	TCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	111	49	157	0	ENST00000341164.4:c.2281_2284del	p.Glu761AsnfsTer30	p.E761Nfs*30	ENST00000341164	NM_025027.3	761	GAGAaa/aa	0	.	.	.	.	.	-	EK/X	protein_coding	YES	CCDS12968.1	2281-2284	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCGTTTCTCTCCAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF278,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000343617	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000341164	Transcript	.	.	ENSG00000166704	25879	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN606_HUMAN	ZNF606	HGNC	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN	.	UPI000013C35B	deletion	ZNF606,frameshift_variant,p.Glu671AsnfsTer30,ENST00000536132,;ZNF606,frameshift_variant,p.Glu761AsnfsTer30,ENST00000341164,;ZNF606,downstream_gene_variant,,ENST00000551380,;C19orf18,upstream_gene_variant,,ENST00000314391,;ZNF606,3_prime_UTR_variant,,ENST00000550599,;	2902-2905	157	160	SUCCESS
SH2D3A	10045	.	GRCh37	19	6754208	6754208	+	intron_variant	Intron	SNP	A	A	C	rs751854900	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	29	0	ENST00000245908.6:c.1273-34T>G		p.*425*	ENST00000245908	NM_005490.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12173.1	.	MUTECT|MUSE	.	TCTCCAGTCTT	NONE	.	.	.	.	.	ENSP00000245908	.	.	.	.	.	.	.	.	.	.	rs751854900	.	PASS	ENST00000245908	Transcript	.	.	ENSG00000125731	16885	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SH23A_HUMAN	SH2D3A	HGNC	.	.	UPI000006FD60	SNV	SH2D3A,synonymous_variant,p.%3D,ENST00000437152,;SH2D3A,intron_variant,,ENST00000245908,;TRIP10,downstream_gene_variant,,ENST00000313285,;SH2D3A,downstream_gene_variant,,ENST00000597687,;TRIP10,downstream_gene_variant,,ENST00000596758,;TRIP10,downstream_gene_variant,,ENST00000600428,;TRIP10,downstream_gene_variant,,ENST00000313244,;CTD-3128G10.6,upstream_gene_variant,,ENST00000594056,;SH2D3A,intron_variant,,ENST00000597168,;SH2D3A,downstream_gene_variant,,ENST00000597254,;SH2D3A,downstream_gene_variant,,ENST00000599563,;SH2D3A,intron_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000595305,;TRIP10,downstream_gene_variant,,ENST00000598843,;SH2D3A,downstream_gene_variant,,ENST00000595369,;TRIP10,downstream_gene_variant,,ENST00000600677,;	.	29	32	SUCCESS
MUC16	94025	.	GRCh37	19	9057572	9057572	+	synonymous_variant	Silent	SNP	G	G	T	rs367564649	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	104	269	0	ENST00000397910.4:c.29874C>A	p.Thr9958=	p.T9958=	ENST00000397910	NM_024690.2	9958	acC/acA	0	A:0	.	.	.	.	T	T	protein_coding	YES	CCDS54212.1	29874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGGTGGT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	A:0.0001	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs367564649	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	30078	269	255	SUCCESS
DENND2C	163259	.	GRCh37	1	115143496	115143496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	107	0	ENST00000393274.1:c.1901C>A	p.Pro634Gln	p.P634Q	ENST00000393274	NM_001256404.1	634	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS58018.1	1901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGGGAAA	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR15288:SF6,hmmpanther:PTHR15288,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000376955	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000393274	Transcript	.	.	ENSG00000175984	24748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEN2C_HUMAN	DENND2C	HGNC	.	.	UPI000048AF71	SNV	DENND2C,missense_variant,p.Pro634Gln,ENST00000393274,;DENND2C,missense_variant,p.Pro634Gln,ENST00000393277,;DENND2C,missense_variant,p.Pro577Gln,ENST00000393276,;DENND2C,non_coding_transcript_exon_variant,,ENST00000481894,;	2527	107	88	SUCCESS
PHGDH	26227	.	GRCh37	1	120266059	120266059	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	106	0	ENST00000369409.4:c.351G>C	p.Leu117=	p.L117=	ENST00000369409	NM_006623.3	117	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS904.1	351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGCCAG	NONE	.	.	hmmpanther:PTHR10996:SF20,hmmpanther:PTHR10996,Pfam_domain:PF02826,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01327,Pfam_domain:PF00389,Superfamily_domains:SSF52283,Superfamily_domains:SSF51735	.	.	ENSP00000358417	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000369409	Transcript	.	.	ENSG00000092621	8923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SERA_HUMAN	PHGDH	HGNC	Q9UMY3_HUMAN,Q9UMY2_HUMAN,Q96RV8_HUMAN,Q96RV7_HUMAN,Q96RV6_HUMAN,Q96RV5_HUMAN,Q8N5M8_HUMAN	.	UPI000013586A	SNV	PHGDH,synonymous_variant,p.%3D,ENST00000369407,;PHGDH,synonymous_variant,p.%3D,ENST00000369409,;PHGDH,non_coding_transcript_exon_variant,,ENST00000493622,;PHGDH,non_coding_transcript_exon_variant,,ENST00000462324,;PHGDH,downstream_gene_variant,,ENST00000496756,;	487	106	116	SUCCESS
SNORA59A	677885	.	GRCh37	1	12567307	12567307	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	19	0	ENST00000459326.1:n.8G>A		p.*3*	ENST00000459326	NR_003025.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30588.1	.	MUTECT|MUSE	.	CCAGGGTATGT	NONE	.	.	.	.	.	ENSP00000350854	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	MODIFIER	69/69	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,intron_variant,,ENST00000358136,;VPS13D,intron_variant,,ENST00000011700,;VPS13D,intron_variant,,ENST00000356315,;VPS13D,intron_variant,,ENST00000543710,;VPS13D,intron_variant,,ENST00000471923,;VPS13D,intron_variant,,ENST00000543766,;SNORA59A,non_coding_transcript_exon_variant,,ENST00000459326,;VPS13D,intron_variant,,ENST00000496628,;VPS13D,downstream_gene_variant,,ENST00000473099,;	.	19	17	SUCCESS
MCL1	4170	.	GRCh37	1	150552052	150552052	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	53	54	0	ENST00000369026.2:c.-46G>A		p.*16*	ENST00000369026	NM_021960.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS957.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCGACTC	NONE	.	.	.	.	.	ENSP00000358022	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369026	Transcript	.	.	ENSG00000143384	6943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCL1_HUMAN	MCL1	HGNC	B4DG83_HUMAN	.	UPI000006D775	SNV	MCL1,5_prime_UTR_variant,,ENST00000369026,;MCL1,upstream_gene_variant,,ENST00000307940,;MCL1,upstream_gene_variant,,ENST00000464132,;	15	54	88	SUCCESS
NES	10763	.	GRCh37	1	156641759	156641759	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	140	131	0	ENST00000368223.3:c.2221C>A	p.His741Asn	p.H741N	ENST00000368223	NM_006617.1	741	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS1151.1	2221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTGATTCT	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious(0.02)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.His741Asn,ENST00000368223,;	2354	131	259	SUCCESS
SPEN	23013	.	GRCh37	1	16255449	16255449	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768180417	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	23	89	0	ENST00000375759.3:c.2714A>G	p.Asn905Ser	p.N905S	ENST00000375759	NM_015001.2	905	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS164.1	2714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATAATGACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	rs768180417	11/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Asn905Ser,ENST00000375759,;	2918	89	98	SUCCESS
SDHB	6390	.	GRCh37	1	17354296	17354296	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769687734	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	104	0	ENST00000375499.3:c.488C>T	p.Ser163Phe	p.S163F	ENST00000375499	NM_003000.2	163	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS176.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGATTCA	NONE	.	.	hmmpanther:PTHR11921:SF8,hmmpanther:PTHR11921,Gene3D:1.10.1060.10,TIGRFAM_domain:TIGR00384,Superfamily_domains:SSF46548	.	.	ENSP00000364649	.	5/8	.	.	.	.	.	.	.	.	rs769687734,COSM284844	5/8	PASS	ENST00000375499	Transcript	.	.	ENSG00000117118	10681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.037)	.	deleterious(0.02)	0,1	DHSB_HUMAN	SDHB	HGNC	Q70SX8_HUMAN,Q0QEY7_HUMAN	.	UPI0000129380	SNV	SDHB,missense_variant,p.Ser163Phe,ENST00000375499,;SDHB,non_coding_transcript_exon_variant,,ENST00000475506,;SDHB,non_coding_transcript_exon_variant,,ENST00000491274,;SDHB,non_coding_transcript_exon_variant,,ENST00000485515,;SDHB,non_coding_transcript_exon_variant,,ENST00000463045,;SDHB,upstream_gene_variant,,ENST00000475049,;SDHB,upstream_gene_variant,,ENST00000485092,;SDHB,downstream_gene_variant,,ENST00000466613,;	639	104	86	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17942680	17942680	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1408594257	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	44	93	0	ENST00000361221.3:c.818A>G	p.His273Arg	p.H273R	ENST00000361221	NM_018125.3	273	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS182.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCACAGGA	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16	.	.	ENSP00000355060	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.93)	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,missense_variant,p.His234Arg,ENST00000375415,;ARHGEF10L,missense_variant,p.His31Arg,ENST00000375420,;ARHGEF10L,missense_variant,p.His273Arg,ENST00000361221,;ARHGEF10L,missense_variant,p.His273Arg,ENST00000434513,;ARHGEF10L,missense_variant,p.His234Arg,ENST00000452522,;ARHGEF10L,upstream_gene_variant,,ENST00000375408,;ARHGEF10L,upstream_gene_variant,,ENST00000167825,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	977	93	128	SUCCESS
PPP1R15B	84919	.	GRCh37	1	204378958	204378958	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	67	86	0	ENST00000367188.4:c.1582A>C	p.Ser528Arg	p.S528R	ENST00000367188	NM_032833.3	528	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS1445.1	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTTCCAG	NONE	.	.	hmmpanther:PTHR16489:SF9,hmmpanther:PTHR16489,Pfam_domain:PF10488	.	.	ENSP00000356156	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367188	Transcript	.	.	ENSG00000158615	14951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.13)	.	PR15B_HUMAN	PPP1R15B	HGNC	.	.	UPI000013DF8B	SNV	PPP1R15B,missense_variant,p.Ser528Arg,ENST00000367188,;RP11-739N20.2,intron_variant,,ENST00000443515,;	1962	86	119	SUCCESS
DYRK3	8444	.	GRCh37	1	206822195	206822195	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	6	72	0	ENST00000367109.2:c.1652T>A	p.Leu551Ter	p.L551*	ENST00000367109	NM_003582.2	551	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS30999.1	1652	MUTECT|MUSE	.	GGGATTGGGTT	NONE	.	.	hmmpanther:PTHR24058:SF35,hmmpanther:PTHR24058	.	.	ENSP00000356076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367109	Transcript	.	.	ENSG00000143479	3094	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYRK3_HUMAN	DYRK3	HGNC	.	.	UPI0000071267	SNV	DYRK3,stop_gained,p.Leu531Ter,ENST00000367106,;DYRK3,stop_gained,p.Leu531Ter,ENST00000367108,;DYRK3,stop_gained,p.Leu551Ter,ENST00000367109,;DYRK3,downstream_gene_variant,,ENST00000441486,;DYRK3,intron_variant,,ENST00000489878,;	1820	72	139	SUCCESS
PIGR	5284	.	GRCh37	1	207103702	207103702	+	synonymous_variant	Silent	SNP	G	G	A	rs746425326	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	37	36	0	ENST00000356495.4:c.2256C>T	p.Thr752=	p.T752=	ENST00000356495	NM_002644.3	752	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1474.1	2256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGGTGCT	NONE	byFrequency	.	hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860	.	.	ENSP00000348888	.	11/11	.	.	.	.	.	.	.	.	rs746425326	11/11	PASS	ENST00000356495	Transcript	.	.	ENSG00000162896	8968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGR_HUMAN	PIGR	HGNC	.	.	UPI000007407E	SNV	PIGR,synonymous_variant,p.%3D,ENST00000356495,;PIGR,downstream_gene_variant,,ENST00000487208,;	2440	37	72	SUCCESS
MTR	4548	.	GRCh37	1	237054600	237054600	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	9	90	0	ENST00000366577.5:c.3175A>G	p.Ile1059Val	p.I1059V	ENST00000366577	NM_000254.2	1059	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1614.1	3175	MUTECT|MUSE	.	AGCCCATAGCC	NONE	.	.	Superfamily_domains:SSF56507,PIRSF_domain:PIRSF000381,Gene3D:2o2kA01,TIGRFAM_domain:TIGR02082,Pfam_domain:PF02965,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS50974	.	.	ENSP00000355536	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000366577	Transcript	.	.	ENSG00000116984	7468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.4)	.	METH_HUMAN	MTR	HGNC	.	.	UPI0000036BC4	SNV	MTR,missense_variant,p.Ile613Val,ENST00000366576,;MTR,missense_variant,p.Ile1059Val,ENST00000366577,;MTR,missense_variant,p.Ile1008Val,ENST00000535889,;MTR,upstream_gene_variant,,ENST00000470570,;	3569	90	142	SUCCESS
RYR2	6262	.	GRCh37	1	237586488	237586488	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	385	24	236	0	ENST00000366574.2:c.945A>T	p.Leu315=	p.L315=	ENST00000366574	NM_001035.2	315	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55691.1	945	MUTECT|MUSE	.	CTTCTACTCAT	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000355533	.	12/105	.	.	.	.	.	.	.	.	.	12/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	1262	236	409	SUCCESS
OR2M5	127059	.	GRCh37	1	248308490	248308490	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1403694658	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	166	196	0	ENST00000366476.1:c.41T>C	p.Leu14Pro	p.L14P	ENST00000366476	NM_001004690.1	14	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31105.1	41	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTCCTGG	NONE	.	.	hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000355432	.	1/1	.	.	.	.	.	.	.	.	COSM534274	1/1	PASS	ENST00000366476	Transcript	.	.	ENSG00000162727	19576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.98)	.	deleterious(0)	1	OR2M5_HUMAN	OR2M5	HGNC	.	.	UPI00001612E2	SNV	OR2M5,missense_variant,p.Leu14Pro,ENST00000366476,;	41	196	311	SUCCESS
MACF1	23499	.	GRCh37	1	39906750	39906750	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	11	147	0	ENST00000372915.3:c.18220G>A	p.Ala6074Thr	p.A6074T	ENST00000372915		6074	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS435.1	12346	MUTECT|MUSE	.	TTTTTGCCTGT	NONE	.	.	Superfamily_domains:SSF46966,Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	69/94	.	.	.	.	.	.	.	.	.	69/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Ala3120Thr,ENST00000372925,;MACF1,missense_variant,p.Ala4116Thr,ENST00000361689,;MACF1,missense_variant,p.Ala4618Thr,ENST00000289893,;MACF1,missense_variant,p.Ala6175Thr,ENST00000564288,;MACF1,missense_variant,p.Ala3986Thr,ENST00000539005,;MACF1,missense_variant,p.Ala6074Thr,ENST00000372915,;MACF1,missense_variant,p.Ala4116Thr,ENST00000317713,;MACF1,missense_variant,p.Ala6212Thr,ENST00000567887,;MACF1,missense_variant,p.Ala4116Thr,ENST00000545844,;MACF1,non_coding_transcript_exon_variant,,ENST00000469490,;	12454	147	159	SUCCESS
SLC2A1	6513	.	GRCh37	1	43394606	43394606	+	synonymous_variant	Silent	SNP	C	C	A	rs752294533	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	38	0	ENST00000426263.3:c.1071G>T	p.Leu357=	p.L357=	ENST00000426263	NM_006516.2	357	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS477.1	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCAGTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF289,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000416293	.	8/10	.	.	.	.	.	.	.	.	rs752294533	8/10	PASS	ENST00000426263	Transcript	.	.	ENSG00000117394	11005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR1_HUMAN	SLC2A1	HGNC	Q59GX2_HUMAN,B3KVN0_HUMAN	.	UPI00002058B9	SNV	SLC2A1,synonymous_variant,p.%3D,ENST00000426263,;SLC2A1,downstream_gene_variant,,ENST00000439722,;SLC2A1,downstream_gene_variant,,ENST00000372500,;SLC2A1,downstream_gene_variant,,ENST00000415851,;SLC2A1,intron_variant,,ENST00000475162,;	1250	38	51	SUCCESS
YIPF1	54432	.	GRCh37	1	54332448	54332448	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	63	0	ENST00000072644.1:c.631A>G	p.Ile211Val	p.I211V	ENST00000072644	NM_018982.4	211	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS584.1	631	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATGAAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12822:SF4,hmmpanther:PTHR12822,Pfam_domain:PF04893	.	.	ENSP00000072644	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000072644	Transcript	.	.	ENSG00000058799	25231	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.56)	.	YIPF1_HUMAN	YIPF1	HGNC	.	.	UPI000006FF6D	SNV	YIPF1,missense_variant,p.Ile211Val,ENST00000072644,;YIPF1,missense_variant,p.Ile236Val,ENST00000539954,;YIPF1,missense_variant,p.Ile28Val,ENST00000371399,;YIPF1,missense_variant,p.Ile211Val,ENST00000412288,;YIPF1,non_coding_transcript_exon_variant,,ENST00000469457,;YIPF1,non_coding_transcript_exon_variant,,ENST00000480151,;YIPF1,downstream_gene_variant,,ENST00000465897,;YIPF1,missense_variant,p.Ile211Val,ENST00000464950,;	968	63	91	SUCCESS
KCNAB2	8514	.	GRCh37	1	6145274	6145274	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	52	78	0	ENST00000164247.1:c.292G>A	p.Val98Ile	p.V98I	ENST00000164247	NM_001199860.1	98	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS55570.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGTACTG	NONE	.	.	hmmpanther:PTHR11732:SF196,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,TIGRFAM_domain:TIGR01293,Superfamily_domains:SSF51430	.	.	ENSP00000367323	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000378083	Transcript	.	.	ENSG00000069424	6229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.42)	.	KCAB2_HUMAN	KCNAB2	HGNC	.	.	UPI000035E741	SNV	KCNAB2,missense_variant,p.Val84Ile,ENST00000435937,;KCNAB2,missense_variant,p.Val98Ile,ENST00000389632,;KCNAB2,missense_variant,p.Val131Ile,ENST00000378083,;KCNAB2,missense_variant,p.Val82Ile,ENST00000472700,;KCNAB2,missense_variant,p.Val98Ile,ENST00000602612,;KCNAB2,missense_variant,p.Val98Ile,ENST00000164247,;KCNAB2,missense_variant,p.Val98Ile,ENST00000378097,;KCNAB2,missense_variant,p.Val98Ile,ENST00000378087,;KCNAB2,missense_variant,p.Val84Ile,ENST00000428161,;KCNAB2,missense_variant,p.Val9Ile,ENST00000462676,;KCNAB2,missense_variant,p.Val98Ile,ENST00000341524,;KCNAB2,missense_variant,p.Val84Ile,ENST00000352527,;KCNAB2,missense_variant,p.Val31Ile,ENST00000458166,;KCNAB2,missense_variant,p.Val84Ile,ENST00000378092,;KCNAB2,missense_variant,p.Val98Ile,ENST00000378111,;	680	78	136	SUCCESS
WDR78	0	.	GRCh37	1	67356850	67356850	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	41	102	0	ENST00000371026.3:c.630G>A	p.Leu210=	p.L210=	ENST00000371026	NM_024763.4	210	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS635.1	630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGTCAATCT	NONE	.	.	hmmpanther:PTHR12442:SF12,hmmpanther:PTHR12442	.	.	ENSP00000360065	.	4/17	.	.	.	.	.	.	.	.	COSM4009601,COSM4009602	4/17	PASS	ENST00000371026	Transcript	.	.	ENSG00000152763	26252	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	WDR78_HUMAN	WDR78	HGNC	.	.	UPI00004561EF	SNV	WDR78,synonymous_variant,p.%3D,ENST00000371023,;WDR78,synonymous_variant,p.%3D,ENST00000371026,;WDR78,synonymous_variant,p.%3D,ENST00000371022,;WDR78,5_prime_UTR_variant,,ENST00000431318,;WDR78,synonymous_variant,p.%3D,ENST00000491297,;WDR78,3_prime_UTR_variant,,ENST00000531980,;WDR78,downstream_gene_variant,,ENST00000532629,;	686	102	115	SUCCESS
RPE65	6121	.	GRCh37	1	68903877	68903877	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	86	0	ENST00000262340.5:c.1121T>C	p.Ile374Thr	p.I374T	ENST00000262340	NM_000329.2	374	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS643.1	1121	MUTECT|MUSE|VARSCANS	.	TGTCAATATTC	NONE	.	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7,Pfam_domain:PF03055	.	.	ENSP00000262340	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000262340	Transcript	.	.	ENSG00000116745	10294	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	deleterious(0.03)	.	RPE65_HUMAN	RPE65	HGNC	Q2EKB8_HUMAN,C7FEP0_HUMAN	.	UPI000004346C	SNV	RPE65,missense_variant,p.Ile374Thr,ENST00000262340,;	1175	86	102	SUCCESS
GBP2	2634	.	GRCh37	1	89583374	89583374	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	101	247	0	ENST00000370466.3:c.511A>C	p.Ser171Arg	p.S171R	ENST00000370466	NM_004120.4	171	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS719.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTCACAA	NONE	.	.	PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF39,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540	.	.	ENSP00000359497	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000370466	Transcript	.	.	ENSG00000162645	4183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	tolerated(0.19)	.	GBP2_HUMAN	GBP2	HGNC	Q8TCE5_HUMAN	.	UPI000013E19F	SNV	GBP2,missense_variant,p.Ser171Arg,ENST00000370466,;GBP2,non_coding_transcript_exon_variant,,ENST00000463660,;GBP2,upstream_gene_variant,,ENST00000493802,;GBP2,missense_variant,p.Ser171Arg,ENST00000464839,;	780	247	247	SUCCESS
DPYD	1806	.	GRCh37	1	97564053	97564053	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	37	141	0	ENST00000370192.3:c.2758A>G	p.Thr920Ala	p.T920A	ENST00000370192	NM_000110.3	920	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS30777.1	2758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTAGGAA	NONE	.	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Superfamily_domains:SSF54862	.	.	ENSP00000359211	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.69)	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Thr920Ala,ENST00000370192,;DPYD-AS1,intron_variant,,ENST00000422980,;	2859	141	153	SUCCESS
SIRPB2	284759	.	GRCh37	20	1471995	1471995	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372457994	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	8	72	0	ENST00000359801.3:c.11C>T	p.Thr4Met	p.T4M	ENST00000359801	NM_001122962.1	4	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS42849.1	11	MUTECT|MUSE|VARSCANS	.	ACATCGTGGAG	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF9	.	A:0.0003	ENSP00000352849	.	1/5	.	.	.	.	.	.	.	.	rs372457994,COSM4096748,COSM4096749,COSM4096750	1/5	PASS	ENST00000359801	Transcript	.	.	ENSG00000196209	16247	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	benign(0.001)	.	tolerated_low_confidence(0.27)	0,1,1,1	SIRB2_HUMAN	SIRPB2	HGNC	.	.	UPI00001D8311	SNV	SIRPB2,missense_variant,p.Thr4Met,ENST00000444444,;SIRPB2,missense_variant,p.Thr4Met,ENST00000359801,;SIRPB2,5_prime_UTR_variant,,ENST00000537284,;AL109658.1,downstream_gene_variant,,ENST00000580848,;SIRPB2,missense_variant,p.Thr4Met,ENST00000486775,;SIRPB2,missense_variant,p.Thr4Met,ENST00000608073,;SIRPB2,missense_variant,p.Thr4Met,ENST00000481731,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000381630,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000609796,;	48	72	84	SUCCESS
FAM182A	284800	.	GRCh37	20	26063603	26063603	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	76	0	ENST00000376398.2:n.1120A>G		p.*374*	ENST00000376398				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCATGATG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000376398	Transcript	.	.	ENSG00000125804	16222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FAM182A	HGNC	.	.	.	SNV	FAM182A,non_coding_transcript_exon_variant,,ENST00000376398,;FAM182A,intron_variant,,ENST00000415411,;FAM182A,downstream_gene_variant,,ENST00000482133,;	1120	76	89	SUCCESS
CHD6	84181	.	GRCh37	20	40049297	40049297	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1055614264	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	12	180	0	ENST00000373233.3:c.5978A>T	p.His1993Leu	p.H1993L	ENST00000373233	NM_032221.4	1993	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS13317.1	5978	MUTECT|MUSE	.	GCTCATGCTTC	NONE	.	.	.	.	.	ENSP00000362330	.	31/37	.	.	.	.	.	.	.	.	.	31/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.56)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.His1993Leu,ENST00000373233,;	6156	180	180	SUCCESS
HELZ2	85441	.	GRCh37	20	62190680	62190680	+	synonymous_variant	Silent	SNP	G	G	A	rs141769251	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	41	0	ENST00000467148.1:c.7869C>T	p.Leu2623=	p.L2623=	ENST00000467148	NM_001037335.2	2623	ctC/ctT	0	A:0.0002	.	.	.	.	A	L	protein_coding	YES	CCDS33508.1	7869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAGGCT	NONE	byCluster	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Superfamily_domains:SSF52540	.	A:0	ENSP00000417401	.	19/19	.	.	.	.	.	.	.	.	rs141769251,COSM3549071	19/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,synonymous_variant,p.%3D,ENST00000427522,;C20orf195,downstream_gene_variant,,ENST00000370097,;C20orf195,downstream_gene_variant,,ENST00000370098,;HELZ2,intron_variant,,ENST00000478861,;	7939	41	56	SUCCESS
GAB4	128954	.	GRCh37	22	17443765	17443765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs767802003	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	27	0	ENST00000400588.1:c.1583C>A	p.Pro528Gln	p.P528Q	ENST00000400588	NM_001037814.1	528	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS42976.1	1583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGGCTGA	NONE	.	.	hmmpanther:PTHR12156:SF20,hmmpanther:PTHR12156	.	.	ENSP00000383431	.	10/10	.	.	.	.	.	.	.	.	rs767802003	10/10	PASS	ENST00000400588	Transcript	.	.	ENSG00000215568	18325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0)	.	GAB4_HUMAN	GAB4	HGNC	.	.	UPI00002326B5	SNV	GAB4,missense_variant,p.Pro528Gln,ENST00000400588,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,splice_region_variant,,ENST00000465611,;	1691	27	43	SUCCESS
LIMK2	3985	.	GRCh37	22	31655931	31655931	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	20	0	ENST00000331728.4:c.419A>G	p.Glu140Gly	p.E140G	ENST00000331728	NM_005569.3	140	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33637.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGAGTCTG	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF398	.	.	ENSP00000339916	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000340552	Transcript	.	.	ENSG00000182541	6614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.11)	.	LIMK2_HUMAN	LIMK2	HGNC	B5MC51_HUMAN	.	UPI0000169F37	SNV	LIMK2,missense_variant,p.Glu119Gly,ENST00000333611,;LIMK2,missense_variant,p.Glu140Gly,ENST00000331728,;LIMK2,missense_variant,p.Glu119Gly,ENST00000340552,;LIMK2,missense_variant,p.Glu62Gly,ENST00000406516,;LIMK2,intron_variant,,ENST00000444929,;LIMK2,downstream_gene_variant,,ENST00000425203,;LIMK2,non_coding_transcript_exon_variant,,ENST00000465937,;LIMK2,downstream_gene_variant,,ENST00000462625,;	586	20	28	SUCCESS
SMC1B	27127	.	GRCh37	22	45809347	45809347	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	60	0	ENST00000357450.4:c.102C>A	p.Asn34Lys	p.N34K	ENST00000357450	NM_148674.3	34	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS43027.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGTTGGG	NONE	.	.	hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF147,Pfam_domain:PF02463,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005719,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540	.	.	ENSP00000350036	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000357450	Transcript	.	.	ENSG00000077935	11112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SMC1B_HUMAN	SMC1B	HGNC	.	.	UPI000042146E	SNV	SMC1B,missense_variant,p.Asn34Lys,ENST00000357450,;SMC1B,missense_variant,p.Asn34Lys,ENST00000404354,;RIBC2,upstream_gene_variant,,ENST00000342894,;RIBC2,upstream_gene_variant,,ENST00000538017,;RIBC2,upstream_gene_variant,,ENST00000466226,;RIBC2,upstream_gene_variant,,ENST00000498265,;	102	60	45	SUCCESS
TTLL8	164714	.	GRCh37	22	50485651	50485651	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	61	176	1	ENST00000433387.1:c.447G>A	p.Leu149=	p.L149=	ENST00000433387		149	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	.	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCAGGCT	NONE	.	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF88	.	.	ENSP00000392252	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000433387	Transcript	.	.	ENSG00000138892	34000	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL8_HUMAN	TTLL8	HGNC	.	.	UPI0001915500	SNV	TTLL8,synonymous_variant,p.%3D,ENST00000440475,;TTLL8,synonymous_variant,p.%3D,ENST00000433387,;TTLL8,synonymous_variant,p.%3D,ENST00000266182,;TTLL8,non_coding_transcript_exon_variant,,ENST00000477219,;	447	177	174	SUCCESS
C2orf48	0	.	GRCh37	2	10350626	10350626	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776733029	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	56	90	0	ENST00000381786.3:c.383C>T	p.Ala128Val	p.A128V	ENST00000381786	NM_182626.2	128	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1670.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCGCTGG	NONE	byFrequency	.	.	.	.	ENSP00000371205	.	4/4	.	.	.	.	.	.	.	.	rs776733029,COSM1004730	4/4	PASS	ENST00000381786	Transcript	.	.	ENSG00000163009	26322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.695)	.	tolerated_low_confidence(1)	0,1	CB048_HUMAN	C2orf48	HGNC	.	.	UPI000006E31D	SNV	C2orf48,missense_variant,p.Ala128Val,ENST00000381786,;	672	90	105	SUCCESS
FAP	2191	.	GRCh37	2	163029733	163029733	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs566100960	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	61	166	0	ENST00000188790.4:c.2035-2A>G		p.X679_splice	ENST00000188790	NM_004460.2	679		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33311.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTGGAAA	NONE	byCluster	.	.	.	.	ENSP00000188790	.	.	.	.	.	.	.	.	.	.	rs566100960	.	PASS	ENST00000188790	Transcript	.	.	ENSG00000078098	3590	.	.	HIGH	23/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPR_HUMAN	FAP	HGNC	C9J131_HUMAN	.	UPI00000012A2	SNV	FAP,splice_acceptor_variant,,ENST00000188790,;FAP,splice_acceptor_variant,,ENST00000443424,;AC007750.5,downstream_gene_variant,,ENST00000418968,;AC007750.5,downstream_gene_variant,,ENST00000609668,;FAP,splice_acceptor_variant,,ENST00000462608,;FAP,splice_acceptor_variant,,ENST00000461506,;FAP,splice_acceptor_variant,,ENST00000480044,;FAP,splice_acceptor_variant,,ENST00000422436,;	.	167	197	SUCCESS
FAP	2191	.	GRCh37	2	163044766	163044766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	109	0	ENST00000188790.4:c.1727G>T	p.Gly576Val	p.G576V	ENST00000188790	NM_004460.2	576	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33311.1	1727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCCTCGA	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000188790	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000188790	Transcript	.	.	ENSG00000078098	3590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SEPR_HUMAN	FAP	HGNC	C9J131_HUMAN	.	UPI00000012A2	SNV	FAP,missense_variant,p.Gly551Val,ENST00000443424,;FAP,missense_variant,p.Gly576Val,ENST00000188790,;FAP,3_prime_UTR_variant,,ENST00000422436,;FAP,non_coding_transcript_exon_variant,,ENST00000497414,;FAP,upstream_gene_variant,,ENST00000461506,;	1935	109	151	SUCCESS
SCN3A	6328	.	GRCh37	2	165947496	165947496	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200457036	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	85	217	2	ENST00000360093.3:c.5167C>A	p.Pro1723Thr	p.P1723T	ENST00000360093	NM_001081677.1	1723	Cca/Aca	0	.	T:0	.	T:0	.	T	P/T	protein_coding	YES	CCDS33312.1	5167	RADIA|SOMATICSNIPER|VARSCANS	.	GGGTGGTGCAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037,Pfam_domain:PF00520	T:0.001	.	ENSP00000283254	T:0	28/28	.	.	.	.	.	.	.	.	rs200457036	28/28	PASS	ENST00000283254	Transcript	.	T:0.0002	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.258)	T:0	deleterious(0.01)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Pro1723Thr,ENST00000360093,;SCN3A,missense_variant,p.Pro1723Thr,ENST00000283254,;SCN3A,missense_variant,p.Pro206Thr,ENST00000540861,;SCN3A,missense_variant,p.Pro1674Thr,ENST00000409101,;AC013463.2,intron_variant,,ENST00000431341,;SCN3A,downstream_gene_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	5635	219	245	SUCCESS
TTN	7273	.	GRCh37	2	179415808	179415808	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	78	0	ENST00000591111.1:c.86527A>T	p.Thr28843Ser	p.T28843S	ENST00000591111		28843	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS59435.1	91450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTAACTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	336/363	.	.	.	.	.	.	.	.	.	336/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Thr21544Ser,ENST00000359218,;TTN,missense_variant,p.Thr28843Ser,ENST00000591111,;TTN,missense_variant,p.Thr30484Ser,ENST00000589042,;TTN,missense_variant,p.Thr21611Ser,ENST00000342175,;TTN,missense_variant,p.Thr27916Ser,ENST00000342992,;TTN,missense_variant,p.Thr21419Ser,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;	91675	78	88	SUCCESS
TTN	7273	.	GRCh37	2	179544137	179544137	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	25	156	0	ENST00000591111.1:c.32720A>T	p.Glu10907Val	p.E10907V	ENST00000591111		10907	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS59435.1	33671	RADIA|MUTECT|MUSE|VARSCANS	.	GAACCTCAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	142/363	.	.	.	.	.	.	.	.	.	142/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu9980Val,ENST00000342992,;TTN,missense_variant,p.Glu11224Val,ENST00000589042,;TTN,missense_variant,p.Glu10907Val,ENST00000591111,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	33896	156	204	SUCCESS
MYT1L	23040	.	GRCh37	2	1926593	1926593	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	42	174	0	ENST00000399161.2:c.948G>A	p.Glu316=	p.E316=	ENST00000399161	NM_015025.2	316	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS46222.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCTCCAC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,synonymous_variant,p.%3D,ENST00000399161,;MYT1L,synonymous_variant,p.%3D,ENST00000428368,;MYT1L,upstream_gene_variant,,ENST00000602387,;	1618	174	157	SUCCESS
PGAP1	80055	.	GRCh37	2	197786855	197786855	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	32	0	ENST00000354764.4:c.148-1981G>A		p.*50*	ENST00000354764	NM_024989.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2318.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATCCTGCC	NONE	.	.	.	.	.	ENSP00000346809	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354764	Transcript	.	.	ENSG00000197121	25712	.	.	MODIFIER	1/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	SNV	PGAP1,intron_variant,,ENST00000374738,;PGAP1,intron_variant,,ENST00000409475,;PGAP1,intron_variant,,ENST00000409188,;PGAP1,intron_variant,,ENST00000354764,;PGAP1,non_coding_transcript_exon_variant,,ENST00000485830,;PGAP1,3_prime_UTR_variant,,ENST00000423035,;PGAP1,intron_variant,,ENST00000470179,;	.	32	45	SUCCESS
ORC2	4999	.	GRCh37	2	201790570	201790570	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1010053634	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	8	87	0	ENST00000234296.2:c.1136A>G	p.Lys379Arg	p.K379R	ENST00000234296	NM_006190.4	379	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS2334.1	1136	MUTECT|MUSE	.	TAAATTTGTTT	NONE	.	.	hmmpanther:PTHR14052,hmmpanther:PTHR14052:SF0,Pfam_domain:PF04084	.	.	ENSP00000234296	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000234296	Transcript	.	.	ENSG00000115942	8488	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	ORC2_HUMAN	ORC2	HGNC	C9JK08_HUMAN,B8ZZ80_HUMAN	.	UPI0000130E5A	SNV	ORC2,missense_variant,p.Lys379Arg,ENST00000234296,;RN7SL694P,upstream_gene_variant,,ENST00000584245,;ORC2,non_coding_transcript_exon_variant,,ENST00000464147,;ORC2,upstream_gene_variant,,ENST00000487853,;	1386	87	103	SUCCESS
NMUR1	10316	.	GRCh37	2	232392880	232392880	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	55	0	ENST00000305141.4:c.852G>A	p.Arg284=	p.R284=	ENST00000305141	NM_006056.4	284	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2486.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCCTGCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF109,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01566	.	.	ENSP00000305877	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000305141	Transcript	.	.	ENSG00000171596	4518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMUR1_HUMAN	NMUR1	HGNC	.	.	UPI0000071CAE	SNV	NMUR1,synonymous_variant,p.%3D,ENST00000305141,;	986	55	64	SUCCESS
ADI1	55256	.	GRCh37	2	3504718	3504718	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	61	0	ENST00000327435.6:c.287G>T	p.Arg96Leu	p.R96L	ENST00000327435	NM_018269.3	96	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS1653.1	287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGCGGATC	NONE	.	.	HAMAP:MF_03154,hmmpanther:PTHR23418,Gene3D:2.60.120.10,Pfam_domain:PF03079,Superfamily_domains:SSF51182	.	.	ENSP00000333666	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000327435	Transcript	.	.	ENSG00000182551	30576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTND_HUMAN	ADI1	HGNC	.	.	UPI000006D8C6	SNV	ADI1,missense_variant,p.Arg90Leu,ENST00000382093,;ADI1,missense_variant,p.Arg96Leu,ENST00000327435,;ADI1,upstream_gene_variant,,ENST00000415131,;RP11-1293J14.1,downstream_gene_variant,,ENST00000607415,;	536	61	63	SUCCESS
ZNF638	27332	.	GRCh37	2	71591324	71591324	+	synonymous_variant	Silent	SNP	A	A	G	rs1047278280	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	54	109	0	ENST00000264447.4:c.1659A>G	p.Pro553=	p.P553=	ENST00000264447	NM_001014972.2	553	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1917.1	1659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCAAAATG	BUFFER|p.R557*|c.1669C>T|3	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,synonymous_variant,p.%3D,ENST00000409544,;ZNF638,synonymous_variant,p.%3D,ENST00000264447,;ZNF638,synonymous_variant,p.%3D,ENST00000377802,;ZNF638,synonymous_variant,p.%3D,ENST00000355812,;ZNF638,upstream_gene_variant,,ENST00000601581,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466975,;ZNF638,non_coding_transcript_exon_variant,,ENST00000464375,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466330,;ZNF638,non_coding_transcript_exon_variant,,ENST00000494621,;ZNF638,non_coding_transcript_exon_variant,,ENST00000475743,;	2289	109	132	SUCCESS
DNAH6	1768	.	GRCh37	2	84832627	84832627	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	116	0	ENST00000237449.6:c.3085G>A	p.Glu1029Lys	p.E1029K	ENST00000237449		1029	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46348.1	3085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGAGGAC	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	20/77	.	.	.	.	.	.	.	.	.	20/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	deleterious(0.01)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Glu1029Lys,ENST00000237449,;DNAH6,missense_variant,p.Glu1029Lys,ENST00000398278,;DNAH6,missense_variant,p.Glu1029Lys,ENST00000389394,;	3222	116	122	SUCCESS
SMYD1	150572	.	GRCh37	2	88396264	88396264	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	77	0	ENST00000419482.2:c.849G>C	p.Leu283=	p.L283=	ENST00000419482	NM_198274.3	283	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33240.1	849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTGAAGGA	NONE	.	.	hmmpanther:PTHR12197:SF16,hmmpanther:PTHR12197	.	.	ENSP00000393453	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000419482	Transcript	.	.	ENSG00000115593	20986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMYD1_HUMAN	SMYD1	HGNC	Q5GJ33_HUMAN	.	UPI000006EB68	SNV	SMYD1,synonymous_variant,p.%3D,ENST00000444564,;SMYD1,synonymous_variant,p.%3D,ENST00000419482,;SMYD1,intron_variant,,ENST00000438570,;	934	77	81	SUCCESS
ITGB1BP1	9270	.	GRCh37	2	9552533	9552533	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	34	0	ENST00000355346.4:c.153A>G		p.X51_splice	ENST00000355346	NM_004763.3	51	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS1662.1	153	MUSE|VARSCANS	.	CTTTGTCCTGA	NONE	.	.	hmmpanther:PTHR32055,hmmpanther:PTHR32055:SF1,Pfam_domain:PF10480	.	.	ENSP00000353850	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000360635	Transcript	.	.	ENSG00000119185	23927	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITBP1_HUMAN	ITGB1BP1	HGNC	C9JZ07_HUMAN,C9JBU8_HUMAN,C9J6Y2_HUMAN,C9J5T5_HUMAN,C9J0J6_HUMAN,C9IZZ8_HUMAN	.	UPI000012DA43	SNV	ITGB1BP1,synonymous_variant,p.%3D,ENST00000467606,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000497105,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000360635,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000494563,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000488451,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000359712,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000238091,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000484735,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000456913,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000460001,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000355346,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000492079,;ITGB1BP1,splice_region_variant,,ENST00000497031,;ITGB1BP1,splice_region_variant,,ENST00000490426,;ITGB1BP1,splice_region_variant,,ENST00000482798,;ITGB1BP1,missense_variant,p.Asp25Gly,ENST00000464228,;ITGB1BP1,synonymous_variant,p.%3D,ENST00000483795,;ITGB1BP1,splice_region_variant,,ENST00000463190,;ITGB1BP1,non_coding_transcript_exon_variant,,ENST00000465527,;ITGB1BP1,upstream_gene_variant,,ENST00000460720,;ITGB1BP1,upstream_gene_variant,,ENST00000470507,;	1050	34	38	SUCCESS
CEP97	79598	.	GRCh37	3	101445524	101445524	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	57	0	ENST00000341893.3:c.130G>T	p.Asp44Tyr	p.D44Y	ENST00000341893		44	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2944.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGATAAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000342510	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000341893	Transcript	.	.	ENSG00000182504	26244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CEP97_HUMAN	CEP97	HGNC	.	.	UPI0000074569	SNV	CEP97,missense_variant,p.Asp44Tyr,ENST00000494050,;CEP97,missense_variant,p.Asp44Tyr,ENST00000327230,;CEP97,missense_variant,p.Asp44Tyr,ENST00000341893,;CEP97,missense_variant,p.Asp44Tyr,ENST00000465011,;CEP97,non_coding_transcript_exon_variant,,ENST00000489172,;CEP97,upstream_gene_variant,,ENST00000467655,;	882	57	74	SUCCESS
IL20RB	53833	.	GRCh37	3	136708320	136708320	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	45	0	ENST00000329582.4:c.444T>C	p.Asp148=	p.D148=	ENST00000329582	NM_144717.3	148	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3093.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGGCTT	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR20859:SF48,hmmpanther:PTHR20859	.	.	ENSP00000328133	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000329582	Transcript	.	.	ENSG00000174564	6004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I20RB_HUMAN	IL20RB	HGNC	.	.	UPI000003E7F6	SNV	IL20RB,synonymous_variant,p.%3D,ENST00000329582,;IL20RB,synonymous_variant,p.%3D,ENST00000309741,;IL20RB,non_coding_transcript_exon_variant,,ENST00000484501,;IL20RB,3_prime_UTR_variant,,ENST00000475972,;IL20RB,3_prime_UTR_variant,,ENST00000469964,;IL20RB,3_prime_UTR_variant,,ENST00000491483,;	693	45	46	SUCCESS
ATR	545	.	GRCh37	3	142275233	142275233	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	42	144	0	ENST00000350721.4:c.2070G>C	p.Lys690Asn	p.K690N	ENST00000350721	NM_001184.3	690	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS3124.1	2070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATCTTGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	9/47	.	.	.	.	.	.	.	.	COSM127399	9/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.046)	.	tolerated(0.13)	1	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Lys307Asn,ENST00000515149,;ATR,missense_variant,p.Lys626Asn,ENST00000383101,;ATR,missense_variant,p.Lys690Asn,ENST00000350721,;ATR,non_coding_transcript_exon_variant,,ENST00000515863,;ATR,downstream_gene_variant,,ENST00000507148,;	2192	144	130	SUCCESS
RSRC1	51319	.	GRCh37	3	157920990	157920990	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	69	159	0	ENST00000295930.3:c.450G>A	p.Glu150=	p.E150=	ENST00000295930	NM_016625.3	150	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS3181.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGAAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31968	.	.	ENSP00000295930	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000295930	Transcript	.	.	ENSG00000174891	24152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSRC1_HUMAN	RSRC1	HGNC	C9JVB3_HUMAN,C9J8Q2_HUMAN,C9J367_HUMAN	.	UPI000006EB23	SNV	RSRC1,synonymous_variant,p.%3D,ENST00000482822,;RSRC1,synonymous_variant,p.%3D,ENST00000295930,;RSRC1,synonymous_variant,p.%3D,ENST00000475278,;RSRC1,synonymous_variant,p.%3D,ENST00000476899,;RSRC1,synonymous_variant,p.%3D,ENST00000480820,;RSRC1,synonymous_variant,p.%3D,ENST00000494002,;RSRC1,synonymous_variant,p.%3D,ENST00000471994,;RSRC1,intron_variant,,ENST00000464171,;RSRC1,intron_variant,,ENST00000312179,;RSRC1,non_coding_transcript_exon_variant,,ENST00000496268,;RSRC1,intron_variant,,ENST00000471911,;RSRC1,synonymous_variant,p.%3D,ENST00000480119,;RSRC1,3_prime_UTR_variant,,ENST00000477788,;	612	160	163	SUCCESS
VWA5B2	90113	.	GRCh37	3	183959774	183959774	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	26	0	ENST00000426955.2:c.3677G>A	p.Trp1226Ter	p.W1226*	ENST00000426955	NM_138345.1	1226	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS54686.1	3677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGGGACC	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,stop_gained,p.Trp1008Ter,ENST00000273794,;VWA5B2,stop_gained,p.Trp1226Ter,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;ALG3,downstream_gene_variant,,ENST00000411922,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	3777	26	21	SUCCESS
TBCCD1	55171	.	GRCh37	3	186281901	186281901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	48	0	ENST00000338733.5:c.218G>T	p.Trp73Leu	p.W73L	ENST00000338733	NM_018138.3	73	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS3276.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCCACGCC	NONE	.	.	hmmpanther:PTHR16052	.	.	ENSP00000411253	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000424280	Transcript	.	.	ENSG00000113838	25546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TBCC1_HUMAN	TBCCD1	HGNC	C9J4M0_HUMAN	.	UPI0000073055	SNV	TBCCD1,missense_variant,p.Trp73Leu,ENST00000338733,;TBCCD1,missense_variant,p.Trp73Leu,ENST00000413695,;TBCCD1,missense_variant,p.Trp73Leu,ENST00000424280,;TBCCD1,missense_variant,p.Trp73Leu,ENST00000430560,;TBCCD1,intron_variant,,ENST00000446782,;DNAJB11,upstream_gene_variant,,ENST00000439351,;	698	48	57	SUCCESS
TOP2B	7155	.	GRCh37	3	25668097	25668097	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	133	0	ENST00000264331.4:c.2178C>T	p.Leu726=	p.L726=	ENST00000264331		726	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46776.1	2163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGAGAAT	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,SMART_domains:SM00434,Superfamily_domains:SSF56719	.	.	ENSP00000396704	.	18/36	.	.	.	.	.	.	.	.	.	18/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,synonymous_variant,p.%3D,ENST00000264331,;TOP2B,synonymous_variant,p.%3D,ENST00000435706,;TOP2B,synonymous_variant,p.%3D,ENST00000424225,;TOP2B,downstream_gene_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;	2365	133	135	SUCCESS
NKTR	4820	.	GRCh37	3	42687400	42687400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	9	258	0	ENST00000232978.8:c.4322C>T	p.Ser1441Phe	p.S1441F	ENST00000232978	NM_005385.3	1441	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2702.1	4322	MUTECT|MUSE	.	TGGCTCTGACA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000232978	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000232978	Transcript	.	.	ENSG00000114857	7833	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	NKTR_HUMAN	NKTR	HGNC	.	.	UPI00001301FD	SNV	NKTR,missense_variant,p.Ser1441Phe,ENST00000232978,;RP4-613B23.1,intron_variant,,ENST00000434363,;RP4-613B23.1,intron_variant,,ENST00000445452,;RP4-613B23.1,intron_variant,,ENST00000438017,;NKTR,3_prime_UTR_variant,,ENST00000429888,;NKTR,non_coding_transcript_exon_variant,,ENST00000490189,;	4510	258	313	SUCCESS
NBEAL2	23218	.	GRCh37	3	47037989	47037989	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	62	0	ENST00000450053.3:c.2380G>T	p.Gly794Cys	p.G794C	ENST00000450053	NM_015175.2	794	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS46817.1	2380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGGCAGC	NONE	.	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743,Pfam_domain:PF13385	.	.	ENSP00000415034	.	16/54	.	.	.	.	.	.	.	.	.	16/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Gly794Cys,ENST00000450053,;NBEAL2,missense_variant,p.Gly266Cys,ENST00000416683,;NBEAL2,missense_variant,p.Gly794Cys,ENST00000292309,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	2559	62	48	SUCCESS
CSPG5	10675	.	GRCh37	3	47618819	47618819	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	61	0	ENST00000383738.2:c.697G>C	p.Gly233Arg	p.G233R	ENST00000383738	NM_001206945.1	233	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS56253.1	697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCTGGTG	NONE	.	.	Pfam_domain:PF06566,hmmpanther:PTHR15381,hmmpanther:PTHR15381:SF1	.	.	ENSP00000373244	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000383738	Transcript	.	.	ENSG00000114646	2467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious_low_confidence(0)	.	CSPG5_HUMAN	CSPG5	HGNC	B7Z2E0_HUMAN	.	UPI0000D61AFE	SNV	CSPG5,missense_variant,p.Gly233Arg,ENST00000264723,;CSPG5,missense_variant,p.Gly233Arg,ENST00000383738,;CSPG5,missense_variant,p.Gly95Arg,ENST00000456150,;CSPG5,downstream_gene_variant,,ENST00000465441,;	2796	61	78	SUCCESS
ROBO1	6091	.	GRCh37	3	78666831	78666831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	71	0	ENST00000464233.1:c.4236G>T	p.Glu1412Asp	p.E1412D	ENST00000464233	NM_002941.3	1412	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS54611.1	4236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATACTCTGC	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,Low_complexity_(Seg):seg	.	.	ENSP00000420321	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(1)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Glu1412Asp,ENST00000464233,;ROBO1,missense_variant,p.Glu1367Asp,ENST00000495273,;ROBO1,missense_variant,p.Glu1373Asp,ENST00000436010,;ROBO1,missense_variant,p.Glu1312Asp,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	4350	71	82	SUCCESS
NDST4	64579	.	GRCh37	4	115792014	115792014	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	22	183	0	ENST00000264363.2:c.1629G>A	p.Trp543Ter	p.W543*	ENST00000264363	NM_022569.1	543	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS3706.1	1629	MUTECT|MUSE|VARSCANS	.	TTGGTCCAGCT	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	.	.	ENSP00000264363	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000264363	Transcript	.	.	ENSG00000138653	20779	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDST4_HUMAN	NDST4	HGNC	.	.	UPI000006CED7	SNV	NDST4,stop_gained,p.Trp543Ter,ENST00000264363,;NDST4,stop_gained,p.Trp164Ter,ENST00000504854,;	2308	183	215	SUCCESS
NR3C2	4306	.	GRCh37	4	149002507	149002507	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	13	74	0	ENST00000344721.4:c.2943C>G	p.Phe981Leu	p.F981L	ENST00000344721		981	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS3772.1	2943	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGAAGTA	NONE	.	.	hmmpanther:PTHR24084:SF22,hmmpanther:PTHR24084,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000350815	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000358102	Transcript	1	.	ENSG00000151623	7979	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.153)	.	deleterious(0)	.	.	NR3C2	HGNC	Q4W5E8_HUMAN,B0ZBF6_HUMAN	.	UPI000013DC6D	SNV	NR3C2,missense_variant,p.Phe864Leu,ENST00000512865,;NR3C2,missense_variant,p.Phe981Leu,ENST00000358102,;NR3C2,missense_variant,p.Phe981Leu,ENST00000344721,;NR3C2,missense_variant,p.Phe985Leu,ENST00000355292,;NR3C2,missense_variant,p.Phe985Leu,ENST00000511528,;NR3C2,3_prime_UTR_variant,,ENST00000342437,;	3306	74	85	SUCCESS
SLIT2	9353	.	GRCh37	4	20535249	20535249	+	synonymous_variant	Silent	SNP	A	A	G	rs756174540	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	297	175	431	0	ENST00000504154.1:c.1743A>G	p.Ala581=	p.A581=	ENST00000504154	NM_004787.1	581	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3426.1	1743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCATCTGG	NONE	.	.	hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	18/37	.	.	.	.	.	.	.	.	rs756174540	18/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,synonymous_variant,p.%3D,ENST00000273739,;SLIT2,synonymous_variant,p.%3D,ENST00000504154,;SLIT2,synonymous_variant,p.%3D,ENST00000503823,;SLIT2,synonymous_variant,p.%3D,ENST00000503837,;SLIT2,non_coding_transcript_exon_variant,,ENST00000509099,;	1995	431	473	SUCCESS
SEPSECS	51091	.	GRCh37	4	25156767	25156767	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	46	0	ENST00000382103.2:c.554A>C	p.Glu185Ala	p.E185A	ENST00000382103	NM_016955.3	185	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS3432.2	554	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTCAAAA	NONE	.	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF017689,TIGRFAM_domain:TIGR03531,Pfam_domain:PF05889,Gene3D:3.40.640.10,hmmpanther:PTHR12944	.	.	ENSP00000371535	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000382103	Transcript	1	.	ENSG00000109618	30605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.234)	.	tolerated(0.06)	.	SPCS_HUMAN	SEPSECS	HGNC	A1A4F3_HUMAN	.	UPI000020BDD0	SNV	SEPSECS,missense_variant,p.Glu106Ala,ENST00000302922,;SEPSECS,missense_variant,p.Glu185Ala,ENST00000382103,;SEPSECS,downstream_gene_variant,,ENST00000513285,;SEPSECS,missense_variant,p.Glu24Ala,ENST00000503150,;SEPSECS,3_prime_UTR_variant,,ENST00000358971,;SEPSECS,3_prime_UTR_variant,,ENST00000514585,;SEPSECS,non_coding_transcript_exon_variant,,ENST00000505513,;	627	46	60	SUCCESS
PCDH7	5099	.	GRCh37	4	30921951	30921951	+	synonymous_variant	Silent	SNP	G	G	A	rs758303214	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	67	2	ENST00000543491.1:c.3351G>A	p.Thr1117=	p.T1117=	ENST00000543491		1117	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54753.1	3351	SOMATICSNIPER|VARSCANS	.	ACCACGCCGGA	NONE	byFrequency	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027	.	.	ENSP00000441802	.	2/3	.	.	.	.	.	.	.	.	rs758303214	2/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000511884,;PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509925,;	3351	69	93	SUCCESS
TMEM128	85013	.	GRCh37	4	4248025	4248025	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	37	133	0	ENST00000382753.4:c.143T>G	p.Leu48Arg	p.L48R	ENST00000382753		48	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS3373.1	71	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTAAGTCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31134:SF1,hmmpanther:PTHR31134	.	.	ENSP00000254742	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000254742	Transcript	.	.	ENSG00000132406	28201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	deleterious(0)	.	TM128_HUMAN	TMEM128	HGNC	.	.	UPI0000073696	SNV	TMEM128,missense_variant,p.Leu48Arg,ENST00000540397,;TMEM128,missense_variant,p.Leu48Arg,ENST00000382753,;TMEM128,missense_variant,p.Leu24Arg,ENST00000254742,;TMEM128,missense_variant,p.Leu48Arg,ENST00000538516,;	658	133	154	SUCCESS
YIPF7	285525	.	GRCh37	4	44637980	44637980	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	7	95	0	ENST00000332990.5:c.311C>T	p.Pro104Leu	p.P104L	ENST00000332990	NM_182592.2	104	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54766.1	311	MUTECT|MUSE	.	TGTAAGGAGAT	NONE	.	.	hmmpanther:PTHR21236:SF5,hmmpanther:PTHR21236	.	.	ENSP00000332772	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000332990	Transcript	.	.	ENSG00000177752	26825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.15)	.	YIPF7_HUMAN	YIPF7	HGNC	.	.	UPI00015347BF	SNV	YIPF7,missense_variant,p.Pro80Leu,ENST00000415895,;YIPF7,missense_variant,p.Pro104Leu,ENST00000332990,;YIPF7,non_coding_transcript_exon_variant,,ENST00000510035,;YIPF7,intron_variant,,ENST00000502794,;	328	95	128	SUCCESS
CEP135	9662	.	GRCh37	4	56831901	56831901	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	12	127	0	ENST00000257287.4:c.920A>C	p.Asn307Thr	p.N307T	ENST00000257287	NM_025009.4	307	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS33986.1	920	MUTECT|MUSE|VARSCANS	.	CGTTAATTTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10	.	.	ENSP00000257287	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000257287	Transcript	1	.	ENSG00000174799	29086	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.18)	.	CP135_HUMAN	CEP135	HGNC	.	.	UPI00003CE420	SNV	CEP135,missense_variant,p.Asn307Thr,ENST00000257287,;CEP135,downstream_gene_variant,,ENST00000422247,;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;CEP135,non_coding_transcript_exon_variant,,ENST00000515081,;	1044	127	146	SUCCESS
DCK	1633	.	GRCh37	4	71889378	71889378	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	18	148	0	ENST00000286648.5:c.504A>G	p.Gln168=	p.Q168=	ENST00000286648	NM_000788.2	168	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS3548.1	504	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAAAGCCT	NONE	.	.	hmmpanther:PTHR10513:SF19,hmmpanther:PTHR10513,Pfam_domain:PF01712,Gene3D:3.40.50.300,PIRSF_domain:PIRSF000705,Superfamily_domains:SSF52540	.	.	ENSP00000286648	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000286648	Transcript	.	.	ENSG00000156136	2704	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCK_HUMAN	DCK	HGNC	F5CTF3_HUMAN,B4E0A5_HUMAN	.	UPI0000128FC6	SNV	DCK,synonymous_variant,p.%3D,ENST00000286648,;DCK,synonymous_variant,p.%3D,ENST00000504952,;DCK,synonymous_variant,p.%3D,ENST00000504730,;MOB1B,downstream_gene_variant,,ENST00000511449,;DCK,3_prime_UTR_variant,,ENST00000503359,;DCK,upstream_gene_variant,,ENST00000509764,;	901	148	185	SUCCESS
ANKRD17	26057	.	GRCh37	4	73990739	73990739	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1350027336	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	41	110	0	ENST00000358602.4:c.3383A>G	p.His1128Arg	p.H1128R	ENST00000358602	NM_032217.3	1128	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS34004.1	3383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATGACCA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000351416	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	SNV	ANKRD17,missense_variant,p.His495Arg,ENST00000561029,;ANKRD17,missense_variant,p.His1128Arg,ENST00000358602,;ANKRD17,missense_variant,p.His1015Arg,ENST00000509867,;ANKRD17,missense_variant,p.His877Arg,ENST00000330838,;ANKRD17,missense_variant,p.His1012Arg,ENST00000558247,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,3_prime_UTR_variant,,ENST00000560372,;	3500	110	109	SUCCESS
BMP2K	55589	.	GRCh37	4	79832589	79832589	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370861712	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	26	223	0	ENST00000335016.5:c.2888C>T	p.Thr963Met	p.T963M	ENST00000335016	NM_198892.1	963	aCg/aTg	0	T:0.0005	T:0.0008	.	T:0	.	T	T/M	protein_coding	YES	CCDS47083.1	2888	MUTECT|MUSE|VARSCANS	.	AATAACGGGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR22967:SF10,hmmpanther:PTHR22967,Pfam_domain:PF15282	T:0	T:0	ENSP00000334836	T:0	16/16	.	.	.	.	.	.	.	.	rs370861712,COSM196972	16/16	PASS	ENST00000335016	Transcript	.	T:0.0002	ENSG00000138756	18041	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	unknown(0)	T:0	deleterious_low_confidence(0.02)	0,1	BMP2K_HUMAN	BMP2K	HGNC	.	.	UPI00001BDC7C	SNV	BMP2K,missense_variant,p.Thr963Met,ENST00000335016,;BMP2K,missense_variant,p.Thr656Met,ENST00000502613,;PAQR3,intron_variant,,ENST00000295462,;PAQR3,downstream_gene_variant,,ENST00000512733,;PAQR3,downstream_gene_variant,,ENST00000515541,;PAQR3,downstream_gene_variant,,ENST00000503343,;PAQR3,3_prime_UTR_variant,,ENST00000511594,;PAQR3,intron_variant,,ENST00000512760,;PAQR3,intron_variant,,ENST00000342820,;	3054	223	270	SUCCESS
CPZ	8532	.	GRCh37	4	8621092	8621092	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	69	158	0	ENST00000360986.4:c.1707C>T	p.Ala569=	p.A569=	ENST00000360986	NM_001014447.2	569	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33953.1	1707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCCGGAT	NONE	.	.	Superfamily_domains:SSF49464,SMART_domains:SM00631,Pfam_domain:PF13620,Gene3D:2.60.40.1120,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	.	.	ENSP00000354255	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000360986	Transcript	.	.	ENSG00000109625	2333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPZ_HUMAN	CPZ	HGNC	.	.	UPI000020BCC5	SNV	CPZ,synonymous_variant,p.%3D,ENST00000360986,;CPZ,synonymous_variant,p.%3D,ENST00000429646,;CPZ,synonymous_variant,p.%3D,ENST00000315782,;CPZ,synonymous_variant,p.%3D,ENST00000382480,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,non_coding_transcript_exon_variant,,ENST00000513486,;	1881	158	180	SUCCESS
APC	324	.	GRCh37	5	112111380	112111380	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs863224281	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	52	123	0	ENST00000257430.4:c.477C>G	p.Tyr159Ter	p.Y159*	ENST00000257430	NM_000038.5	159	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS4107.1	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TATTACGCTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Gene3D:1.25.10.10,Pfam_domain:PF11414,Superfamily_domains:0053482	.	.	ENSP00000413133	.	5/16	.	.	.	.	.	.	.	.	rs730880250,CM960066	5/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,stop_gained,p.Tyr159Ter,ENST00000257430,;APC,stop_gained,p.Tyr169Ter,ENST00000507379,;APC,stop_gained,p.Tyr159Ter,ENST00000457016,;APC,stop_gained,p.Tyr159Ter,ENST00000508376,;APC,stop_gained,p.Tyr159Ter,ENST00000512211,;RNU6-482P,upstream_gene_variant,,ENST00000391068,;APC,stop_gained,p.Tyr159Ter,ENST00000508624,;CBX3P3,downstream_gene_variant,,ENST00000508108,;	857	123	76	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140347883	140347883	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	17	111	0	ENST00000289269.5:c.1532G>A	p.Arg511Lys	p.R511K	ENST00000289269	NM_018899.5	511	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS4242.1	1532	MUTECT|MUSE|VARSCANS	.	GGAGAGGGAGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,PROSITE_profiles:PS50268	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.033)	.	tolerated(0.17)	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,missense_variant,p.Arg511Lys,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2064	111	195	SUCCESS
GM2A	2760	.	GRCh37	5	150632762	150632762	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	30	0	ENST00000357164.3:c.-16T>A		p.*6*	ENST00000357164	NM_000405.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4313.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTGACCC	NONE	.	.	.	.	.	ENSP00000349687	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000357164	Transcript	1	.	ENSG00000196743	4367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAP3_HUMAN	GM2A	HGNC	.	.	UPI00001AEC37	SNV	GM2A,5_prime_UTR_variant,,ENST00000357164,;GM2A,intron_variant,,ENST00000523466,;	310	30	47	SUCCESS
EIF4E1B	253314	.	GRCh37	5	176070692	176070692	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777342115	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	40	69	0	ENST00000318682.6:c.253C>G	p.Leu85Val	p.L85V	ENST00000318682	NM_001099408.1	85	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS47345.1	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACCTGCAC	NONE	byFrequency	.	Superfamily_domains:SSF55418,Gene3D:3.30.760.10,Pfam_domain:PF01652,hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF3	.	.	ENSP00000323714	.	5/9	.	.	.	.	.	.	.	.	rs777342115	5/9	PASS	ENST00000318682	Transcript	.	.	ENSG00000175766	33179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	deleterious(0.02)	.	I4E1B_HUMAN	EIF4E1B	HGNC	D6RHE2_HUMAN	.	UPI0001572CC7	SNV	EIF4E1B,missense_variant,p.Leu85Val,ENST00000510660,;EIF4E1B,missense_variant,p.Leu85Val,ENST00000318682,;EIF4E1B,missense_variant,p.Leu26Val,ENST00000505497,;EIF4E1B,missense_variant,p.Leu85Val,ENST00000504597,;TSPAN17,upstream_gene_variant,,ENST00000503045,;TSPAN17,upstream_gene_variant,,ENST00000508164,;TSPAN17,upstream_gene_variant,,ENST00000507471,;TSPAN17,upstream_gene_variant,,ENST00000310032,;TSPAN17,upstream_gene_variant,,ENST00000298564,;TSPAN17,upstream_gene_variant,,ENST00000515708,;TSPAN17,upstream_gene_variant,,ENST00000504168,;TSPAN17,upstream_gene_variant,,ENST00000405525,;EIF4E1B,downstream_gene_variant,,ENST00000510473,;EIF4E1B,upstream_gene_variant,,ENST00000512734,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000515458,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000503895,;TSPAN17,upstream_gene_variant,,ENST00000503030,;TSPAN17,upstream_gene_variant,,ENST00000514705,;	837	69	78	SUCCESS
OR2Y1	134083	.	GRCh37	5	180166444	180166444	+	synonymous_variant	Silent	SNP	G	G	A	rs752095483	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	19	89	0	ENST00000307832.2:c.615C>T	p.Val205=	p.V205=	ENST00000307832	NM_001001657.1	205	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34323.1	615	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGACTAT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000312403	.	1/1	.	.	.	.	.	.	.	.	rs752095483,COSM3012644	1/1	PASS	ENST00000307832	Transcript	.	.	ENSG00000174339	14837	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	OR2Y1_HUMAN	OR2Y1	HGNC	.	.	UPI0000041BCE	SNV	OR2Y1,synonymous_variant,p.%3D,ENST00000307832,;	656	89	148	SUCCESS
ESM1	11082	.	GRCh37	5	54281083	54281083	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	76	0	ENST00000381405.4:c.263G>T	p.Gly88Val	p.G88V	ENST00000381405	NM_007036.4	88	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3963.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCATTA	NONE	.	.	PROSITE_profiles:PS51323,hmmpanther:PTHR15428,SMART_domains:SM00121,Superfamily_domains:SSF57184	.	.	ENSP00000370812	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381405	Transcript	.	.	ENSG00000164283	3466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.03)	.	ESM1_HUMAN	ESM1	HGNC	M0R154_HUMAN	.	UPI000012A1BA	SNV	ESM1,missense_variant,p.Gly88Val,ENST00000601836,;ESM1,missense_variant,p.Gly88Val,ENST00000381403,;ESM1,missense_variant,p.Gly88Val,ENST00000381405,;ESM1,intron_variant,,ENST00000598310,;	409	76	79	SUCCESS
BDP1	55814	.	GRCh37	5	70766253	70766253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	61	405	0	ENST00000358731.4:c.951G>T	p.Met317Ile	p.M317I	ENST00000358731	NM_018429.2	317	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS43328.1	951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATGGTAGG	NONE	.	.	hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000351575	.	7/39	.	.	.	.	.	.	.	.	.	7/39	PASS	ENST00000358731	Transcript	.	.	ENSG00000145734	13652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	BDP1_HUMAN	BDP1	HGNC	.	.	UPI000020CA90	SNV	BDP1,missense_variant,p.Met317Ile,ENST00000358731,;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;	1214	405	286	SUCCESS
NHSL1	57224	.	GRCh37	6	138752749	138752749	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	66	0	ENST00000427025.2:c.2745T>C	p.Thr915=	p.T915=	ENST00000427025	NM_020464.1	915	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS55063.1	2745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCAGTAGA	NONE	.	.	Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3,Low_complexity_(Seg):seg	.	.	ENSP00000394546	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000427025	Transcript	.	.	ENSG00000135540	21021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NHSL1_HUMAN	NHSL1	HGNC	B4DS58_HUMAN	.	UPI0001750345	SNV	NHSL1,synonymous_variant,p.%3D,ENST00000343505,;NHSL1,synonymous_variant,p.%3D,ENST00000427025,;NHSL1,downstream_gene_variant,,ENST00000342260,;MIR3145,downstream_gene_variant,,ENST00000580727,;	3374	66	36	SUCCESS
IGF2R	3482	.	GRCh37	6	160491064	160491064	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	61	0	ENST00000356956.1:c.4417C>T	p.Arg1473Ter	p.R1473*	ENST00000356956	NM_000876.2	1473	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS5273.1	4417	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCGATTC	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Pfam_domain:PF00878,Gene3D:2.70.130.10,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	31/48	.	.	.	.	.	.	.	.	.	31/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,stop_gained,p.Arg1473Ter,ENST00000356956,;IGF2R,upstream_gene_variant,,ENST00000487607,;	4565	61	38	SUCCESS
SLC22A1	6580	.	GRCh37	6	160543147	160543147	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	60	0	ENST00000366963.4:c.180G>A	p.Gln60=	p.Q60=	ENST00000366963	NM_153187.1	60	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS5274.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGCGCTG	NONE	.	.	TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF214	.	.	ENSP00000355930	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000366963	Transcript	.	.	ENSG00000175003	10963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22A1_HUMAN	SLC22A1	HGNC	F5GY86_HUMAN	.	UPI0000070FB1	SNV	SLC22A1,synonymous_variant,p.%3D,ENST00000324965,;SLC22A1,synonymous_variant,p.%3D,ENST00000366963,;SLC22A1,synonymous_variant,p.%3D,ENST00000457470,;SLC22A1,synonymous_variant,p.%3D,ENST00000539263,;SLC22A1,synonymous_variant,p.%3D,ENST00000460902,;	327	60	59	SUCCESS
PPIL1	51645	.	GRCh37	6	36839559	36839559	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1209621168	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	140	165	0	ENST00000373699.5:c.146A>G	p.Asn49Ser	p.N49S	ENST00000373699	NM_016059.4	49	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS4826.1	146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATTGTAG	NONE	.	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,PROSITE_patterns:PS00170,Pfam_domain:PF00160,Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,Superfamily_domains:SSF50891	.	.	ENSP00000362803	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000373699	Transcript	.	.	ENSG00000137168	9260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.06)	.	PPIL1_HUMAN	PPIL1	HGNC	.	.	UPI000004C600	SNV	PPIL1,missense_variant,p.Asn49Ser,ENST00000373699,;C6orf89,upstream_gene_variant,,ENST00000510325,;C6orf89,upstream_gene_variant,,ENST00000359359,;	398	165	272	SUCCESS
TJAP1	93643	.	GRCh37	6	43471363	43471363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	38	72	0	ENST00000372445.5:c.498G>C	p.Glu166Asp	p.E166D	ENST00000372445	NM_001146016.1	166	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS55004.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAGCGGTA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000361522	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000372445	Transcript	.	.	ENSG00000137221	17949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.11)	.	TJAP1_HUMAN	TJAP1	HGNC	E2QRK7_HUMAN,B3KT40_HUMAN	.	UPI00004A3A96	SNV	TJAP1,missense_variant,p.Glu166Asp,ENST00000372449,;TJAP1,missense_variant,p.Glu156Asp,ENST00000436109,;TJAP1,missense_variant,p.Glu166Asp,ENST00000438588,;TJAP1,missense_variant,p.Glu166Asp,ENST00000372445,;TJAP1,missense_variant,p.Glu156Asp,ENST00000372444,;TJAP1,missense_variant,p.Glu114Asp,ENST00000454762,;TJAP1,missense_variant,p.Glu156Asp,ENST00000372452,;TJAP1,missense_variant,p.Glu156Asp,ENST00000259751,;TJAP1,missense_variant,p.Glu166Asp,ENST00000442878,;TJAP1,downstream_gene_variant,,ENST00000372454,;LRRC73,downstream_gene_variant,,ENST00000372441,;TJAP1,splice_region_variant,,ENST00000478173,;TJAP1,splice_region_variant,,ENST00000490050,;TJAP1,splice_region_variant,,ENST00000459851,;TJAP1,splice_region_variant,,ENST00000483640,;	874	72	76	SUCCESS
EYS	346007	.	GRCh37	6	64431532	64431532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	34	223	0	ENST00000370616.2:c.8458C>A	p.Leu2820Ile	p.L2820I	ENST00000370616		2820	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS47445.1	8395	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTAGATCCA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000424243	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.751)	.	tolerated(0.09)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Leu2820Ile,ENST00000370616,;EYS,missense_variant,p.Leu2820Ile,ENST00000370621,;EYS,missense_variant,p.Leu2799Ile,ENST00000503581,;PHF3,intron_variant,,ENST00000505138,;	8933	223	313	SUCCESS
EYS	346007	.	GRCh37	6	65767615	65767615	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	59	137	1	ENST00000370616.2:c.2029C>T	p.Gln677Ter	p.Q677*	ENST00000370616		677	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS47445.1	2029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTGCGTAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,stop_gained,p.Gln677Ter,ENST00000370616,;EYS,stop_gained,p.Gln677Ter,ENST00000370621,;EYS,stop_gained,p.Gln677Ter,ENST00000503581,;	2567	138	214	SUCCESS
ZNF292	23036	.	GRCh37	6	87967391	87967391	+	synonymous_variant	Silent	SNP	G	G	A	rs939226786	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	49	139	0	ENST00000369577.3:c.4044G>A	p.Gly1348=	p.G1348=	ENST00000369577	NM_015021.1	1348	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS47457.1	4044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGGCGGGG	NONE	.	.	hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	.	.	ENSP00000358590	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369577	Transcript	.	.	ENSG00000188994	18410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN292_HUMAN	ZNF292	HGNC	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN	.	UPI000020D2CC	SNV	ZNF292,synonymous_variant,p.%3D,ENST00000369577,;ZNF292,synonymous_variant,p.%3D,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	4087	139	82	SUCCESS
ACTL6B	51412	.	GRCh37	7	100245133	100245160	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGGGGCACCCTCCCGGACAGGCTCCTGT	GGGGGCACCCTCCCGGACAGGCTCCTGT	-	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	GGGGGCACCCTCCCGGACAGGCTCCTGT	GGGGGCACCCTCCCGGACAGGCTCCTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	50	0	ENST00000160382.5:c.670-4_693del		p.X224_splice	ENST00000160382	NM_016188.4	224		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5702.1	?-693	INDELOCATOR|VARSCANI	.	GTTTGGGGGGGCACCCTCCCGGACAGGCTCCTGTGGGGG	NONE	.	.	.	.	.	ENSP00000160382	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000160382	Transcript	.	.	ENSG00000077080	160	.	.	HIGH	7/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACL6B_HUMAN	ACTL6B	HGNC	C9JQT4_HUMAN	.	UPI0000126725	deletion	ACTL6B,splice_acceptor_variant,,ENST00000160382,;TFR2,upstream_gene_variant,,ENST00000462107,;ACTL6B,downstream_gene_variant,,ENST00000461605,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000487125,;TFR2,upstream_gene_variant,,ENST00000474947,;ACTL6B,downstream_gene_variant,,ENST00000489904,;ACTL6B,downstream_gene_variant,,ENST00000487225,;ACTL6B,downstream_gene_variant,,ENST00000485601,;	?-800	50	43	SUCCESS
GPR37	2861	.	GRCh37	7	124386785	124386785	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	85	0	ENST00000303921.2:c.1636C>G	p.Pro546Ala	p.P546A	ENST00000303921	NM_005302.3	546	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS5792.1	1636	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGGGTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF32,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01421,Prints_domain:PR00237	.	.	ENSP00000306449	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303921	Transcript	.	.	ENSG00000170775	4494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GPR37_HUMAN	GPR37	HGNC	.	.	UPI0000001C92	SNV	GPR37,missense_variant,p.Pro546Ala,ENST00000303921,;	2287	85	99	SUCCESS
TNPO3	23534	.	GRCh37	7	128694938	128694938	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	21	0	ENST00000265388.5:c.-114C>T		p.*38*	ENST00000265388				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5809.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCCATC	NONE	.	.	.	.	.	ENSP00000265388	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000265388	Transcript	.	.	ENSG00000064419	17103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNPO3_HUMAN	TNPO3	HGNC	E9PFH4_HUMAN,B3KMX1_HUMAN	.	UPI0000072FAB	SNV	TNPO3,5_prime_UTR_variant,,ENST00000393245,;TNPO3,5_prime_UTR_variant,,ENST00000471234,;TNPO3,5_prime_UTR_variant,,ENST00000482320,;TNPO3,5_prime_UTR_variant,,ENST00000265388,;TNPO3,upstream_gene_variant,,ENST00000471166,;TPI1P2,upstream_gene_variant,,ENST00000453581,;TPI1P2,upstream_gene_variant,,ENST00000491343,;	31	21	17	SUCCESS
DDX56	54606	.	GRCh37	7	44609640	44609640	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	73	0	ENST00000258772.5:c.1098T>A	p.Pro366=	p.P366=	ENST00000258772	NM_001257189.1	366	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5492.1	1098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGGGGT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF96,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000258772	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000258772	Transcript	.	.	ENSG00000136271	18193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX56_HUMAN	DDX56	HGNC	G3V0G3_HUMAN	.	UPI0000037BB1	SNV	DDX56,synonymous_variant,p.%3D,ENST00000258772,;DDX56,synonymous_variant,p.%3D,ENST00000431640,;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,non_coding_transcript_exon_variant,,ENST00000485367,;DDX56,non_coding_transcript_exon_variant,,ENST00000467318,;DDX56,upstream_gene_variant,,ENST00000479602,;DDX56,synonymous_variant,p.%3D,ENST00000421223,;DDX56,synonymous_variant,p.%3D,ENST00000433257,;DDX56,3_prime_UTR_variant,,ENST00000446987,;DDX56,3_prime_UTR_variant,,ENST00000415758,;DDX56,non_coding_transcript_exon_variant,,ENST00000473924,;DDX56,downstream_gene_variant,,ENST00000479440,;	1205	73	58	SUCCESS
PCLO	27445	.	GRCh37	7	82508658	82508658	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs556966262	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	65	164	0	ENST00000333891.9:c.13649T>C	p.Met4550Thr	p.M4550T	ENST00000333891	NM_033026.5	4550	aTg/aCg	0	.	G:0	.	G:0	.	G	M/T	protein_coding	YES	CCDS47630.1	13649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCATAAGC	NONE	by1000G	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	G:0	.	ENSP00000334319	G:0	10/25	.	.	.	.	.	.	.	.	rs556966262	10/25	PASS	ENST00000333891	Transcript	.	G:0.0002	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	G:0.001	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Met4550Thr,ENST00000333891,;PCLO,missense_variant,p.Met4550Thr,ENST00000423517,;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,missense_variant,p.Met41Thr,ENST00000456006,;PCLO,missense_variant,p.Met41Thr,ENST00000413807,;	13987	164	154	SUCCESS
PCLO	27445	.	GRCh37	7	82582751	82582751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	12	87	0	ENST00000333891.9:c.7518C>A	p.Ser2506Arg	p.S2506R	ENST00000333891	NM_033026.5	2506	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS47630.1	7518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTGCTTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ser2506Arg,ENST00000333891,;PCLO,missense_variant,p.Ser2506Arg,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7856	87	79	SUCCESS
ANKIB1	54467	.	GRCh37	7	91936908	91936908	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	35	0	ENST00000265742.3:c.424G>C	p.Asp142His	p.D142H	ENST00000265742	NM_019004.1	142	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS47639.1	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGATAAC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR11685:SF95,hmmpanther:PTHR11685,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000265742	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000265742	Transcript	.	.	ENSG00000001629	22215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AKIB1_HUMAN	ANKIB1	HGNC	Q4VBX8_HUMAN,C9JZ63_HUMAN	.	UPI00001C1E7C	SNV	ANKIB1,missense_variant,p.Asp142His,ENST00000265742,;ANKIB1,downstream_gene_variant,,ENST00000442183,;ANKIB1,missense_variant,p.Asp80His,ENST00000439883,;	800	35	43	SUCCESS
BET1	10282	.	GRCh37	7	93633633	93633633	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	13	0	ENST00000222547.3:c.-105T>C		p.*35*	ENST00000222547	NM_005868.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACACCAAC	NONE	.	.	.	.	.	ENSP00000222547	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000222547	Transcript	.	.	ENSG00000105829	14562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BET1_HUMAN	BET1	HGNC	Q53XK0_HUMAN	.	UPI000012689A	SNV	BET1,5_prime_UTR_variant,,ENST00000433727,;BET1,5_prime_UTR_variant,,ENST00000222547,;BET1,5_prime_UTR_variant,,ENST00000425626,;BET1,upstream_gene_variant,,ENST00000457139,;AC006378.2,intron_variant,,ENST00000426634,;AC006378.2,downstream_gene_variant,,ENST00000426193,;BET1,5_prime_UTR_variant,,ENST00000357520,;	55	13	31	SUCCESS
ATAD2	29028	.	GRCh37	8	124382175	124382175	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	281	17	128	0	ENST00000287394.5:c.817G>C	p.Asp273His	p.D273H	ENST00000287394	NM_014109.3	273	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6343.1	817	MUTECT|MUSE	.	ATCATCATCAT	BUFFER|p.D275E|c.825T>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1,Gene3D:1.25.10.10	.	.	ENSP00000287394	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.303)	.	deleterious(0.02)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Asp273His,ENST00000287394,;ATAD2,5_prime_UTR_variant,,ENST00000521903,;ATAD2,upstream_gene_variant,,ENST00000534257,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;ATAD2,downstream_gene_variant,,ENST00000530065,;	925	128	298	SUCCESS
PTP4A3	11156	.	GRCh37	8	142441034	142441034	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs145157893	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	21	0	ENST00000329397.1:c.412C>A	p.Arg138Ser	p.R138S	ENST00000329397		138	Cgc/Agc	0	T:0	.	.	.	.	A	R/S	protein_coding	YES	CCDS6383.1	412	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCGCCGCGGA	NONE	byCluster	.	PROSITE_profiles:PS50056,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF57,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,Superfamily_domains:SSF52799	.	T:0.0002	ENSP00000428976	.	6/6	.	.	.	.	.	.	.	.	rs145157893	6/6	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.874)	.	deleterious(0.02)	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,missense_variant,p.Arg138Ser,ENST00000521578,;PTP4A3,missense_variant,p.Arg138Ser,ENST00000329397,;PTP4A3,missense_variant,p.Arg113Ser,ENST00000520105,;PTP4A3,missense_variant,p.Arg113Ser,ENST00000349124,;PTP4A3,missense_variant,p.Arg52Ser,ENST00000524028,;PTP4A3,downstream_gene_variant,,ENST00000523147,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,downstream_gene_variant,,ENST00000521053,;MROH5,downstream_gene_variant,,ENST00000523857,;MROH5,downstream_gene_variant,,ENST00000430863,;	1357	21	56	SUCCESS
JPH1	56704	.	GRCh37	8	75233175	75233175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	25	0	ENST00000342232.4:c.348C>A	p.Asp116Glu	p.D116E	ENST00000342232	NM_020647.2	116	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS6217.1	348	RADIA|MUTECT|MUSE|VARSCANS	.	TACCCGTCTTG	NONE	.	.	hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,Gene3D:1h3iA01,Pfam_domain:PF02493,SMART_domains:SM00698,PIRSF_domain:PIRSF037387,Superfamily_domains:0038399	.	.	ENSP00000344488	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	SNV	JPH1,missense_variant,p.Asp116Glu,ENST00000342232,;GDAP1,upstream_gene_variant,,ENST00000520797,;GDAP1,upstream_gene_variant,,ENST00000521096,;JPH1,intron_variant,,ENST00000519947,;	389	25	56	SUCCESS
PEX2	5828	.	GRCh37	8	77895811	77895811	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	41	0	ENST00000357039.4:c.604G>A	p.Glu202Lys	p.E202K	ENST00000357039	NM_000318.2	202	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6221.1	604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCAGCAA	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3,Pfam_domain:PF04757	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,missense_variant,p.Glu202Lys,ENST00000419564,;PEX2,missense_variant,p.Glu202Lys,ENST00000522527,;PEX2,missense_variant,p.Glu202Lys,ENST00000520103,;PEX2,missense_variant,p.Glu202Lys,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1069	41	67	SUCCESS
GEM	2669	.	GRCh37	8	95272587	95272587	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774085906	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	11	44	0	ENST00000297596.2:c.145A>G	p.Thr49Ala	p.T49A	ENST00000297596	NM_005261.3	49	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6261.1	145	MUTECT|MUSE	.	AGGGGTAGCAG	NONE	.	.	hmmpanther:PTHR24070:SF192,hmmpanther:PTHR24070,PIRSF_domain:PIRSF038017	.	.	ENSP00000297596	.	2/5	.	.	.	.	.	.	.	.	rs774085906	2/5	PASS	ENST00000297596	Transcript	.	.	ENSG00000164949	4234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.81)	.	GEM_HUMAN	GEM	HGNC	E5RJF9_HUMAN	.	UPI000012B3BC	SNV	GEM,missense_variant,p.Thr49Ala,ENST00000297596,;GEM,missense_variant,p.Thr49Ala,ENST00000396194,;GEM,missense_variant,p.Thr49Ala,ENST00000523433,;GEM,non_coding_transcript_exon_variant,,ENST00000523660,;GEM,non_coding_transcript_exon_variant,,ENST00000521817,;	410	44	152	SUCCESS
TDRD7	23424	.	GRCh37	9	100235830	100235830	+	synonymous_variant	Silent	SNP	C	C	T	rs764337688	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	86	0	ENST00000355295.4:c.2001C>T	p.Leu667=	p.L667=	ENST00000355295	NM_014290.2	667	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6725.1	2001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCTACTG	NONE	.	.	hmmpanther:PTHR22948:SF14,hmmpanther:PTHR22948,Pfam_domain:PF00567	.	.	ENSP00000347444	.	11/17	.	.	.	.	.	.	.	.	rs764337688,COSM3925753	11/17	PASS	ENST00000355295	Transcript	.	.	ENSG00000196116	30831	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TDRD7_HUMAN	TDRD7	HGNC	.	.	UPI00002114B5	SNV	TDRD7,synonymous_variant,p.%3D,ENST00000540902,;TDRD7,synonymous_variant,p.%3D,ENST00000422139,;TDRD7,synonymous_variant,p.%3D,ENST00000355295,;	2296	86	97	SUCCESS
PSMB7	5695	.	GRCh37	9	127115964	127115964	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	63	0	ENST00000259457.3:c.747A>G	p.Lys249=	p.K249=	ENST00000259457	NM_002799.3	249	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS6855.1	747	MUTECT|MUSE	.	GTCCCTTTCTC	NONE	.	.	Pfam_domain:PF12465,Gene3D:3.60.20.10,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF42	.	.	ENSP00000259457	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000259457	Transcript	.	.	ENSG00000136930	9544	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSB7_HUMAN	PSMB7	HGNC	E9KL30_HUMAN	.	UPI00001325C7	SNV	PSMB7,synonymous_variant,p.%3D,ENST00000259457,;NEK6,downstream_gene_variant,,ENST00000546191,;NEK6,downstream_gene_variant,,ENST00000373603,;PSMB7,downstream_gene_variant,,ENST00000536392,;NEK6,downstream_gene_variant,,ENST00000540326,;NEK6,downstream_gene_variant,,ENST00000394199,;NEK6,downstream_gene_variant,,ENST00000320246,;NEK6,downstream_gene_variant,,ENST00000539416,;NEK6,downstream_gene_variant,,ENST00000545174,;NEK6,downstream_gene_variant,,ENST00000373600,;AL137846.1,upstream_gene_variant,,ENST00000583657,;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;	761	63	69	SUCCESS
FREM1	158326	.	GRCh37	9	14784488	14784488	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs376519870	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	27	102	0	ENST00000380880.3:c.4322A>G	p.Gln1441Arg	p.Q1441R	ENST00000380880		1441	cAg/cGg	0	C:0.0003	.	.	.	.	C	Q/R	protein_coding	YES	CCDS47952.1	4322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCTGGCCA	NONE	byCluster	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24	.	C:0	ENSP00000412940	.	25/38	.	.	.	.	.	.	.	.	rs376519870	25/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.14)	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,missense_variant,p.Gln1442Arg,ENST00000380881,;FREM1,missense_variant,p.Gln1441Arg,ENST00000380880,;FREM1,missense_variant,p.Gln1441Arg,ENST00000422223,;FREM1,upstream_gene_variant,,ENST00000380894,;FREM1,non_coding_transcript_exon_variant,,ENST00000485068,;FREM1,non_coding_transcript_exon_variant,,ENST00000466679,;FREM1,non_coding_transcript_exon_variant,,ENST00000497634,;FREM1,intron_variant,,ENST00000380875,;	5138	102	102	SUCCESS
ANKRD18B	441459	.	GRCh37	9	33548483	33548483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	34	158	1	ENST00000290943.6:c.1511A>G	p.Asp504Gly	p.D504G	ENST00000290943	NM_001244752.1	504	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	.	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGATGCTC	NONE	.	.	hmmpanther:PTHR24147:SF22,hmmpanther:PTHR24147,Pfam_domain:PF14915	.	.	ENSP00000290943	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000290943	Transcript	.	.	ENSG00000230453	23644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.03)	.	AN18B_HUMAN	ANKRD18B	HGNC	.	.	UPI0000EE047B	SNV	ANKRD18B,missense_variant,p.Asp504Gly,ENST00000290943,;ANKRD18B,upstream_gene_variant,,ENST00000357927,;ANKRD18B,downstream_gene_variant,,ENST00000605687,;	1607	159	162	SUCCESS
FOXD4L3	286380	.	GRCh37	9	70917828	70917828	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	48	0	ENST00000342833.2:c.-40C>G		p.*14*	ENST00000342833	NM_199135.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43833.1	.	RADIA|VARSCANS	.	GTGATCGGCCG	NONE	.	.	.	.	.	ENSP00000341961	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342833	Transcript	.	.	ENSG00000187559	18523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FX4L3_HUMAN	FOXD4L3	HGNC	Q8WTR0_HUMAN	.	UPI0000367635	SNV	FOXD4L3,5_prime_UTR_variant,,ENST00000342833,;CBWD3,downstream_gene_variant,,ENST00000377342,;CBWD3,downstream_gene_variant,,ENST00000360171,;RP11-561O23.5,upstream_gene_variant,,ENST00000603050,;RP11-561O23.7,upstream_gene_variant,,ENST00000419576,;CBWD3,downstream_gene_variant,,ENST00000377344,;	553	48	55	SUCCESS
PRUNE2	158471	.	GRCh37	9	79320970	79320970	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	106	0	ENST00000376718.3:c.6220G>A	p.Ala2074Thr	p.A2074T	ENST00000376718	NM_015225.2	2074	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47982.1	6220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGCATCTA	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.1)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Ala1396Thr,ENST00000426088,;PRUNE2,missense_variant,p.Ala2074Thr,ENST00000376718,;PRUNE2,missense_variant,p.Ala1715Thr,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	6344	106	108	SUCCESS
OGN	4969	.	GRCh37	9	95147921	95147921	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	57	123	0	ENST00000262551.4:c.878C>G	p.Pro293Arg	p.P293R	ENST00000262551	NM_033014.2	293	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS6695.1	878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCGGTAAT	NONE	.	.	hmmpanther:PTHR24371:SF5,hmmpanther:PTHR24371	.	.	ENSP00000262551	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000262551	Transcript	.	.	ENSG00000106809	8126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MIME_HUMAN	OGN	HGNC	A8K0R3_HUMAN	.	UPI00000540ED	SNV	OGN,missense_variant,p.Pro293Arg,ENST00000375561,;OGN,missense_variant,p.Pro293Arg,ENST00000262551,;CENPP,intron_variant,,ENST00000375587,;OGN,downstream_gene_variant,,ENST00000447356,;OGN,downstream_gene_variant,,ENST00000468743,;	1299	123	150	SUCCESS
MTMR1	8776	.	GRCh37	X	149905792	149905792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	54	61	0	ENST00000370390.3:c.1321G>T	p.Gly441Cys	p.G441C	ENST00000370390	NM_003828.2	441	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS14695.1	1321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGACGGTTGG	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF40,hmmpanther:PTHR10807,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF06602,SMART_domains:SM00404,Superfamily_domains:SSF52799	.	.	ENSP00000440534	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000544228	Transcript	.	.	ENSG00000063601	7449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTMR1_HUMAN	MTMR1	HGNC	F8W8S8_HUMAN,F8W764_HUMAN,E9PIH9_HUMAN,B7Z3D5_HUMAN	.	UPI0000167F8A	SNV	MTMR1,missense_variant,p.Gly347Cys,ENST00000541925,;MTMR1,missense_variant,p.Gly266Cys,ENST00000538506,;MTMR1,missense_variant,p.Gly441Cys,ENST00000451863,;MTMR1,missense_variant,p.Gly441Cys,ENST00000544228,;MTMR1,missense_variant,p.Gly441Cys,ENST00000370390,;MTMR1,missense_variant,p.Gly449Cys,ENST00000445323,;MTMR1,downstream_gene_variant,,ENST00000542156,;MTMR1,missense_variant,p.Gly441Cys,ENST00000485376,;MTMR1,missense_variant,p.Gly278Cys,ENST00000488357,;MTMR1,non_coding_transcript_exon_variant,,ENST00000370387,;	1442	61	67	SUCCESS
ZNF185	7739	.	GRCh37	X	152085856	152085856	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	87	0	ENST00000370268.4:c.291C>T	p.Ser97=	p.S97=	ENST00000370268		97	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55529.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCTCTTC	NONE	.	.	hmmpanther:PTHR15468:SF2,hmmpanther:PTHR15468	.	.	ENSP00000440847	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,synonymous_variant,p.%3D,ENST00000318504,;ZNF185,synonymous_variant,p.%3D,ENST00000370270,;ZNF185,synonymous_variant,p.%3D,ENST00000449285,;ZNF185,synonymous_variant,p.%3D,ENST00000370268,;ZNF185,synonymous_variant,p.%3D,ENST00000539731,;ZNF185,synonymous_variant,p.%3D,ENST00000535861,;ZNF185,5_prime_UTR_variant,,ENST00000324823,;ZNF185,upstream_gene_variant,,ENST00000318529,;ZNF185,upstream_gene_variant,,ENST00000447792,;ZNF185,upstream_gene_variant,,ENST00000426821,;ZNF185,synonymous_variant,p.%3D,ENST00000436731,;	339	87	93	SUCCESS
ASMT	438	.	GRCh37	X	1752180	1752180	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	363	103	407	0	ENST00000381229.4:c.700G>A	p.Glu234Lys	p.E234K	ENST00000381229		234	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14117.1	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAAGGT	NONE	.	.	PROSITE_profiles:PS51683,hmmpanther:PTHR11746,hmmpanther:PTHR11746:SF71,Gene3D:3.40.50.150,Pfam_domain:PF00891,PIRSF_domain:PIRSF005739,Superfamily_domains:SSF53335	.	.	ENSP00000370639	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000381241	Transcript	.	.	ENSG00000196433	750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.13)	.	ASMT_HUMAN	ASMT	HGNC	.	.	UPI00001AEDD0	SNV	ASMT,missense_variant,p.Glu234Lys,ENST00000381229,;ASMT,missense_variant,p.Glu262Lys,ENST00000381241,;ASMT,intron_variant,,ENST00000381233,;ASMT,upstream_gene_variant,,ENST00000432523,;ASMT,intron_variant,,ENST00000509780,;	983	408	466	SUCCESS
CACNA1F	778	.	GRCh37	X	49062154	49062154	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	40	60	0	ENST00000376265.2:c.5625C>A	p.Phe1875Leu	p.F1875L	ENST00000376265	NM_005183.2	1875	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS35253.1	5625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGAAGGT	NONE	.	.	.	.	.	ENSP00000365441	.	47/48	.	.	.	.	.	.	.	.	.	47/48	PASS	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.43)	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,missense_variant,p.Phe1810Leu,ENST00000376251,;CACNA1F,missense_variant,p.Phe1875Leu,ENST00000376265,;CACNA1F,missense_variant,p.Phe1864Leu,ENST00000323022,;CACNA1F,downstream_gene_variant,,ENST00000486943,;AF196779.1,upstream_gene_variant,,ENST00000583131,;SYP-AS1,downstream_gene_variant,,ENST00000433499,;CACNA1F,downstream_gene_variant,,ENST00000481035,;	5687	60	69	SUCCESS
HDAC8	55869	.	GRCh37	X	71788678	71788678	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	30	0	ENST00000373573.3:c.221C>G	p.Ala74Gly	p.A74G	ENST00000373573	NM_018486.2	74	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS14420.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAGCATCA	NONE	.	.	hmmpanther:PTHR10625:SF106,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271	.	.	ENSP00000362674	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000373573	Transcript	.	.	ENSG00000147099	13315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	HDAC8_HUMAN	HDAC8	HGNC	C9J8F0_HUMAN,B4DQE7_HUMAN	.	UPI00000411E6	SNV	HDAC8,missense_variant,p.Ala74Gly,ENST00000373571,;HDAC8,missense_variant,p.Ala74Gly,ENST00000439122,;HDAC8,missense_variant,p.Ala74Gly,ENST00000415409,;HDAC8,missense_variant,p.Ala74Gly,ENST00000373554,;HDAC8,missense_variant,p.Ala35Gly,ENST00000421523,;HDAC8,missense_variant,p.Ala74Gly,ENST00000373560,;HDAC8,missense_variant,p.Ala74Gly,ENST00000373561,;HDAC8,missense_variant,p.Ala74Gly,ENST00000373556,;HDAC8,missense_variant,p.Ala74Gly,ENST00000373573,;HDAC8,5_prime_UTR_variant,,ENST00000429103,;HDAC8,intron_variant,,ENST00000373583,;HDAC8,intron_variant,,ENST00000373568,;HDAC8,intron_variant,,ENST00000373559,;HDAC8,intron_variant,,ENST00000373589,;HDAC8,non_coding_transcript_exon_variant,,ENST00000478743,;HDAC8,missense_variant,p.Ala74Gly,ENST00000436675,;HDAC8,3_prime_UTR_variant,,ENST00000444609,;HDAC8,intron_variant,,ENST00000412342,;HDAC8,downstream_gene_variant,,ENST00000486704,;	563	30	27	SUCCESS
CNNM2	54805	.	GRCh37	10	104687174	104687174	+	intron_variant	Intron	SNP	A	A	T	rs748415432	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	80	0	ENST00000369878.4:c.1621+7316A>T		p.*541*	ENST00000369878	NM_017649.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44474.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAACATCA	NONE	byFrequency	.	.	.	.	ENSP00000358894	.	.	.	.	.	.	.	.	.	.	rs748415432	.	PASS	ENST00000369878	Transcript	1	.	ENSG00000148842	103	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNNM2_HUMAN	CNNM2	HGNC	.	.	UPI0000231CA6	SNV	CNNM2,3_prime_UTR_variant,,ENST00000369875,;CNNM2,intron_variant,,ENST00000369878,;CNNM2,intron_variant,,ENST00000433628,;	.	80	95	SUCCESS
SLK	9748	.	GRCh37	10	105763103	105763103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	38	0	ENST00000369755.3:c.2167A>G	p.Lys723Glu	p.K723E	ENST00000369755	NM_014720.2	723	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7553.1	2167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATAAAGAA	NONE	.	.	hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361	.	.	ENSP00000358770	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000369755	Transcript	.	.	ENSG00000065613	11088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.11)	.	SLK_HUMAN	SLK	HGNC	.	.	UPI000004B6D3	SNV	SLK,missense_variant,p.Lys723Glu,ENST00000369755,;SLK,missense_variant,p.Lys723Glu,ENST00000335753,;SLK,upstream_gene_variant,,ENST00000474260,;	2712	38	38	SUCCESS
WDR96	0	.	GRCh37	10	105952057	105952057	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	63	0	ENST00000357060.3:c.1446T>C	p.Tyr482=	p.Y482=	ENST00000357060	NM_025145.5	482	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS31281.1	1446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCATAACT	NONE	.	.	hmmpanther:PTHR14885,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000349568	.	12/38	.	.	.	.	.	.	.	.	.	12/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,synonymous_variant,p.%3D,ENST00000278064,;WDR96,synonymous_variant,p.%3D,ENST00000428666,;WDR96,synonymous_variant,p.%3D,ENST00000357060,;WDR96,downstream_gene_variant,,ENST00000369720,;	1562	63	69	SUCCESS
GPR26	2849	.	GRCh37	10	125426544	125426544	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	6	132	0	ENST00000284674.1:c.621C>T	p.Asp207=	p.D207=	ENST00000284674	NM_153442.3	207	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS7636.1	621	MUTECT|MUSE	.	ATCGACGTGAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24245:SF5,hmmpanther:PTHR24245,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000284674	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000284674	Transcript	.	.	ENSG00000154478	4481	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR26_HUMAN	GPR26	HGNC	.	.	UPI000006E821	SNV	GPR26,synonymous_variant,p.%3D,ENST00000284674,;	674	132	158	SUCCESS
EDRF1	26098	.	GRCh37	10	127434413	127434413	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772234625	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	45	117	0	ENST00000356792.4:c.2728A>G	p.Met910Val	p.M910V	ENST00000356792	NM_001202438.1	910	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS55733.1	2728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCATGCGG	NONE	byFrequency	.	Gene3D:1.25.40.10,hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000	.	.	ENSP00000349244	.	19/25	.	.	.	.	.	.	.	.	rs772234625	19/25	PASS	ENST00000356792	Transcript	.	.	ENSG00000107938	24640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	EDRF1_HUMAN	EDRF1	HGNC	.	.	UPI00005CA2E3	SNV	EDRF1,missense_variant,p.Met910Val,ENST00000356792,;EDRF1,missense_variant,p.Met876Val,ENST00000337623,;EDRF1,downstream_gene_variant,,ENST00000368813,;EDRF1-AS1,intron_variant,,ENST00000593871,;EDRF1-AS1,intron_variant,,ENST00000600784,;EDRF1-AS1,intron_variant,,ENST00000594025,;EDRF1-AS1,intron_variant,,ENST00000602030,;EDRF1-AS1,intron_variant,,ENST00000449436,;EDRF1-AS1,downstream_gene_variant,,ENST00000601363,;EDRF1,3_prime_UTR_variant,,ENST00000368815,;EDRF1,3_prime_UTR_variant,,ENST00000481600,;EDRF1,3_prime_UTR_variant,,ENST00000419769,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;EDRF1,upstream_gene_variant,,ENST00000469725,;EDRF1,upstream_gene_variant,,ENST00000527655,;EDRF1,upstream_gene_variant,,ENST00000368812,;EDRF1,upstream_gene_variant,,ENST00000525524,;	2960	117	152	SUCCESS
KNDC1	85442	.	GRCh37	10	135038187	135038187	+	synonymous_variant	Silent	SNP	G	G	A	rs759407643	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	31	191	0	ENST00000304613.3:c.5043G>A	p.Gln1681=	p.Q1681=	ENST00000304613		1681	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS7674.1	5043	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGGTGCA	NONE	byFrequency	.	Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS50009	.	.	ENSP00000304437	.	30/30	.	.	.	.	.	.	.	.	rs759407643	30/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,synonymous_variant,p.%3D,ENST00000304613,;KNDC1,synonymous_variant,p.%3D,ENST00000368572,;	5064	191	269	SUCCESS
ECHS1	1892	.	GRCh37	10	135179489	135179489	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	92	0	ENST00000368547.3:c.730G>C	p.Val244Leu	p.V244L	ENST00000368547	NM_004092.3	244	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS7681.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCACTGATT	NONE	.	.	hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF24,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000357535	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000368547	Transcript	1	.	ENSG00000127884	3151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	deleterious(0.01)	.	ECHM_HUMAN	ECHS1	HGNC	.	.	UPI000013CC49	SNV	ECHS1,missense_variant,p.Val244Leu,ENST00000368547,;	1086	92	95	SUCCESS
CUBN	8029	.	GRCh37	10	16967302	16967302	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	217	40	233	0	ENST00000377833.4:c.6584T>A	p.Phe2195Tyr	p.F2195Y	ENST00000377833	NM_001081.3	2195	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS7113.1	6584	RADIA|MUTECT|MUSE|VARSCANS	.	AAATAAACTGA	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	43/67	.	.	.	.	.	.	.	.	.	43/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Phe2195Tyr,ENST00000377833,;	6650	233	258	SUCCESS
GPR158	57512	.	GRCh37	10	25887663	25887663	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	29	84	0	ENST00000376351.3:c.3108G>T	p.Met1036Ile	p.M1036I	ENST00000376351	NM_020752.2	1036	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31166.1	3108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGGAGAA	NONE	.	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	COSM683591	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.007)	.	tolerated(0.18)	1	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Met1036Ile,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	3467	84	105	SUCCESS
ACBD5	91452	.	GRCh37	10	27486370	27486370	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	96	166	1	ENST00000375888.1:c.1594A>T	p.Lys532Ter	p.K532*	ENST00000375888		532	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS44368.1	1567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTTCTTT	NONE	.	.	PIRSF_domain:PIRSF002412	.	.	ENSP00000379568	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000396271	Transcript	.	.	ENSG00000107897	23338	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACBD5_HUMAN	ACBD5	HGNC	.	.	UPI000046FE2B	SNV	ACBD5,stop_gained,p.Lys488Ter,ENST00000375905,;ACBD5,stop_gained,p.Lys346Ter,ENST00000375897,;ACBD5,stop_gained,p.Lys414Ter,ENST00000375901,;ACBD5,stop_gained,p.Lys532Ter,ENST00000375888,;ACBD5,stop_gained,p.Lys523Ter,ENST00000396271,;RNU2-24P,upstream_gene_variant,,ENST00000516830,;	1694	167	240	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37507997	37507997	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	60	161	0	ENST00000361713.1:c.3189C>T	p.Ala1063=	p.A1063=	ENST00000361713	NM_052997.2	1063	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7193.1	3189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCCACACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14915	.	.	ENSP00000354432	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,synonymous_variant,p.%3D,ENST00000374660,;ANKRD30A,synonymous_variant,p.%3D,ENST00000361713,;ANKRD30A,synonymous_variant,p.%3D,ENST00000602533,;	3288	161	185	SUCCESS
PCDH15	65217	.	GRCh37	10	55600110	55600110	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	27	130	0	ENST00000320301.6:c.3953A>G	p.Asn1318Ser	p.N1318S	ENST00000320301	NM_033056.3	1318	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS44404.1	3953	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTTGGTT	NONE	.	.	.	.	.	ENSP00000354950	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0.03)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Asn1247Ser,ENST00000437009,;PCDH15,missense_variant,p.Asn1296Ser,ENST00000395433,;PCDH15,missense_variant,p.Asn1325Ser,ENST00000395445,;PCDH15,missense_variant,p.Asn1318Ser,ENST00000320301,;PCDH15,missense_variant,p.Asn929Ser,ENST00000409834,;PCDH15,missense_variant,p.Asn1281Ser,ENST00000395432,;PCDH15,missense_variant,p.Asn1318Ser,ENST00000361849,;PCDH15,missense_variant,p.Asn1318Ser,ENST00000395438,;PCDH15,missense_variant,p.Asn1323Ser,ENST00000414778,;PCDH15,missense_variant,p.Asn1318Ser,ENST00000395430,;PCDH15,missense_variant,p.Asn1325Ser,ENST00000373965,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;	4348	130	169	SUCCESS
ITIH5	80760	.	GRCh37	10	7684011	7684011	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	213	39	183	1	ENST00000256861.6:c.178A>T	p.Ile60Phe	p.I60F	ENST00000256861	NM_030569.6	60	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	.	178	RADIA|VARSCANS	.	AATGATGGTAG	NONE	.	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Pfam_domain:PF08487,SMART_domains:SM00609	.	.	ENSP00000256861	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Ile60Phe,ENST00000397146,;ITIH5,missense_variant,p.Ile60Phe,ENST00000397145,;ITIH5,missense_variant,p.Ile60Phe,ENST00000256861,;ITIH5,5_prime_UTR_variant,,ENST00000446830,;ITIH5,upstream_gene_variant,,ENST00000434980,;	257	184	252	SUCCESS
CDHR1	92211	.	GRCh37	10	85972935	85972935	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	41	135	0	ENST00000372117.3:c.1873del	p.His625ThrfsTer30	p.H625Tfs*30	ENST00000372117	NM_033100.3	624	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS7372.1	1871	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAATTCCCACA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	16/17	.	.	.	.	.	.	.	.	COSM3441080,COSM3441081	16/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	2	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	deletion	CDHR1,frameshift_variant,p.His329ThrfsTer30,ENST00000440770,;CDHR1,frameshift_variant,p.His625ThrfsTer30,ENST00000372117,;CDHR1,frameshift_variant,p.His625ThrfsTer30,ENST00000332904,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;	1974	135	180	SUCCESS
CCSER2	54462	.	GRCh37	10	86131874	86131874	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761103917	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	22	104	0	ENST00000224756.8:c.1066G>C	p.Ala356Pro	p.A356P	ENST00000224756	NM_018999.2	356	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS31235.1	1066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGCTAAG	NONE	byFrequency	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF2	.	.	ENSP00000224756	.	2/11	.	.	.	.	.	.	.	.	rs761103917	2/11	PASS	ENST00000224756	Transcript	.	.	ENSG00000107771	29197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	tolerated(0.16)	.	CCSE2_HUMAN	CCSER2	HGNC	B4DFY4_HUMAN	.	UPI00005E1AE0	SNV	CCSER2,missense_variant,p.Ala356Pro,ENST00000359979,;CCSER2,missense_variant,p.Ala356Pro,ENST00000372088,;CCSER2,missense_variant,p.Ala356Pro,ENST00000224756,;	1251	104	131	SUCCESS
OPN4	94233	.	GRCh37	10	88419162	88419162	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	92	0	ENST00000241891.5:c.737T>C	p.Leu246Pro	p.L246P	ENST00000241891	NM_033282.3	246	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31237.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCCCTC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72,PROSITE_profiles:PS50262,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000361141	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000372071	Transcript	.	.	ENSG00000122375	14449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	OPN4_HUMAN	OPN4	HGNC	.	.	UPI00001544ED	SNV	OPN4,missense_variant,p.Leu246Pro,ENST00000241891,;OPN4,missense_variant,p.Leu257Pro,ENST00000372071,;OPN4,missense_variant,p.Leu257Pro,ENST00000443292,;	997	92	132	SUCCESS
BMPR1A	657	.	GRCh37	10	88649933	88649933	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	30	216	0	ENST00000372037.3:c.182G>A	p.Cys61Tyr	p.C61Y	ENST00000372037	NM_004329.2	61	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS7378.1	182	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGCTATT	NONE	.	.	hmmpanther:PTHR23255:SF50,hmmpanther:PTHR23255,Pfam_domain:PF01064,Gene3D:2.10.60.10,Superfamily_domains:SSF57302	.	.	ENSP00000361107	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000372037	Transcript	1	.	ENSG00000107779	1076	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BMR1A_HUMAN	BMPR1A	HGNC	.	.	UPI000006EB08	SNV	BMPR1A,missense_variant,p.Cys61Tyr,ENST00000372037,;RNU1-19P,downstream_gene_variant,,ENST00000363306,;BMPR1A,downstream_gene_variant,,ENST00000480152,;	719	216	238	SUCCESS
IFIT2	3433	.	GRCh37	10	91066441	91066441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	11	114	0	ENST00000371826.3:c.728C>T	p.Ala243Val	p.A243V	ENST00000371826	NM_001547.4	243	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS41548.1	728	MUTECT|MUSE|VARSCANS	.	GAAAGCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50293,hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000360891	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371826	Transcript	.	.	ENSG00000119922	5409	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.091)	.	tolerated(0.11)	.	IFIT2_HUMAN	IFIT2	HGNC	.	.	UPI000012D3E4	SNV	IFIT2,missense_variant,p.Ala243Val,ENST00000371826,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	897	114	124	SUCCESS
PIPSL	266971	.	GRCh37	10	95719293	95719293	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	265	38	261	0	ENST00000480546.1:n.2005G>A		p.*669*	ENST00000480546				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACTTTCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000480546	Transcript	.	.	ENSG00000180764	23733	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PIPSL	HGNC	.	.	.	SNV	PIPSL,non_coding_transcript_exon_variant,,ENST00000480546,;SLC35G1,downstream_gene_variant,,ENST00000494992,;PIPSL,non_coding_transcript_exon_variant,,ENST00000489875,;PIPSL,downstream_gene_variant,,ENST00000540371,;	2005	261	304	SUCCESS
PLCE1	51196	.	GRCh37	10	95791760	95791760	+	synonymous_variant	Silent	SNP	G	G	A	rs573916830	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	11	100	0	ENST00000260766.3:c.957G>A	p.Lys319=	p.K319=	ENST00000260766	NM_016341.3	319	aaG/aaA	0	.	C:0	.	C:0	.	A	K	protein_coding	YES	CCDS41552.1	957	MUTECT|MUSE|VARSCANS	.	AAAAAGGAGCG	NONE	byFrequency|by1000G	.	Superfamily_domains:0041591	C:0	.	ENSP00000360431	C:0	1/32	.	.	.	.	.	.	.	.	rs573916830	1/32	PASS	ENST00000371380	Transcript	1	C:0.0004	ENSG00000138193	17175	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0.002	.	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,synonymous_variant,p.%3D,ENST00000371380,;PLCE1,synonymous_variant,p.%3D,ENST00000260766,;	1192	100	125	SUCCESS
ENTPD1	953	.	GRCh37	10	97626020	97626020	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	504	74	481	0	ENST00000371205.4:c.1413T>C	p.Pro471=	p.P471=	ENST00000371205		471	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS53556.1	1449	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCTCTCTC	NONE	.	.	hmmpanther:PTHR11782:SF32,hmmpanther:PTHR11782	.	.	ENSP00000360250	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000371207	Transcript	1	.	ENSG00000138185	3363	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ENTP1_HUMAN	ENTPD1	HGNC	.	.	UPI0000EE3B3A	SNV	ENTPD1,synonymous_variant,p.%3D,ENST00000453258,;ENTPD1,synonymous_variant,p.%3D,ENST00000371205,;ENTPD1,synonymous_variant,p.%3D,ENST00000539125,;ENTPD1,synonymous_variant,p.%3D,ENST00000543964,;ENTPD1,synonymous_variant,p.%3D,ENST00000371203,;ENTPD1,synonymous_variant,p.%3D,ENST00000371207,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000451364,;RP11-429G19.3,intron_variant,,ENST00000433113,;RP11-248J23.7,intron_variant,,ENST00000491114,;	1512	481	579	SUCCESS
SLIT1	6585	.	GRCh37	10	98764566	98764566	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	53	248	0	ENST00000266058.4:c.3594G>A	p.Glu1198=	p.E1198=	ENST00000266058	NM_003061.2	1198	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS7453.1	3594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCTCTGC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000266058	.	33/37	.	.	.	.	.	.	.	.	.	33/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,synonymous_variant,p.%3D,ENST00000371070,;SLIT1,synonymous_variant,p.%3D,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;	3840	248	302	SUCCESS
MMP1	4312	.	GRCh37	11	102662135	102662135	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	20	120	0	ENST00000315274.6:c.1125G>A	p.Lys375=	p.K375=	ENST00000315274	NM_002421.3	375	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS8322.1	1125	RADIA|MUTECT|MUSE|VARSCANS	.	ATATGCTTCAC	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF127,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000322788	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000315274	Transcript	.	.	ENSG00000196611	7155	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MMP1_HUMAN	MMP1	HGNC	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN	.	UPI00000422BA	SNV	MMP1,synonymous_variant,p.%3D,ENST00000315274,;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,intron_variant,,ENST00000544704,;	1193	120	135	SUCCESS
MUC2	4583	.	GRCh37	11	1081136	1081136	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs555224884	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	23	85	0	ENST00000441003.2:c.1432G>A	p.Val478Met	p.V478M	ENST00000441003	NM_002457.2	478	Gtg/Atg	0	.	A:0.0008	.	A:0	.	A	V/M	protein_coding	YES	.	1432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACGTGACC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	A:0	.	ENSP00000415183	A:0	11/49	.	.	.	.	.	.	.	.	rs555224884	11/49	PASS	ENST00000441003	Transcript	.	A:0.0002	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Val478Met,ENST00000441003,;MUC2,missense_variant,p.Val478Met,ENST00000359061,;	1459	85	122	SUCCESS
ALG9	79796	.	GRCh37	11	111740961	111740961	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	17	92	0	ENST00000531154.1:c.-250G>A		p.*84*	ENST00000531154	NM_024740.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41714.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCCAGTA	NONE	.	.	.	.	.	ENSP00000435517	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000531154	Transcript	.	.	ENSG00000086848	15672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALG9_HUMAN	ALG9	HGNC	.	.	UPI000058E4B0	SNV	ALG9,5_prime_UTR_variant,,ENST00000531154,;ALG9,5_prime_UTR_variant,,ENST00000398006,;FDXACB1,downstream_gene_variant,,ENST00000260257,;FDXACB1,downstream_gene_variant,,ENST00000542429,;ALG9,non_coding_transcript_exon_variant,,ENST00000530723,;ALG9,non_coding_transcript_exon_variant,,ENST00000527228,;ALG9,non_coding_transcript_exon_variant,,ENST00000529754,;ALG9,non_coding_transcript_exon_variant,,ENST00000524386,;ALG9,non_coding_transcript_exon_variant,,ENST00000526587,;ALG9,non_coding_transcript_exon_variant,,ENST00000524457,;ALG9,non_coding_transcript_exon_variant,,ENST00000527883,;ALG9,intron_variant,,ENST00000532374,;ALG9,upstream_gene_variant,,ENST00000530851,;ALG9,downstream_gene_variant,,ENST00000527377,;ALG9,3_prime_UTR_variant,,ENST00000524880,;FDXACB1,downstream_gene_variant,,ENST00000531487,;	224	92	105	SUCCESS
UBE4A	9354	.	GRCh37	11	118263565	118263565	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	67	135	1	ENST00000252108.3:c.3029C>T	p.Ser1010Phe	p.S1010F	ENST00000252108	NM_001204077.1	1010	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS8396.1	3050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCCAGAG	NONE	.	.	PROSITE_profiles:PS51698,hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF2,Gene3D:3.30.40.10,Pfam_domain:PF04564,SMART_domains:SM00504,Superfamily_domains:SSF57850	.	.	ENSP00000387362	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000431736	Transcript	.	.	ENSG00000110344	12499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBE4A_HUMAN	UBE4A	HGNC	B7Z7P0_HUMAN	.	UPI000013CD3F	SNV	UBE4A,missense_variant,p.Ser1010Phe,ENST00000252108,;UBE4A,missense_variant,p.Ser1017Phe,ENST00000431736,;UBE4A,missense_variant,p.Ser482Phe,ENST00000545354,;RP11-770J1.5,downstream_gene_variant,,ENST00000531742,;	3122	136	117	SUCCESS
KMT2A	4297	.	GRCh37	11	118374789	118374789	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	23	104	0	ENST00000534358.1:c.8182G>A	p.Glu2728Lys	p.E2728K	ENST00000534358	NM_005933.3	2728	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55791.1	8182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGAGAGT	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,missense_variant,p.Glu2725Lys,ENST00000389506,;KMT2A,missense_variant,p.Glu2687Lys,ENST00000354520,;KMT2A,missense_variant,p.Glu2728Lys,ENST00000534358,;KMT2A,upstream_gene_variant,,ENST00000534085,;KMT2A,downstream_gene_variant,,ENST00000528278,;	8205	104	120	SUCCESS
BLID	414899	.	GRCh37	11	121986461	121986461	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	26	149	0	ENST00000560104.1:c.170C>A	p.Pro57His	p.P57H	ENST00000560104	NM_001001786.2	57	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS31693.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGGTTCT	NONE	.	.	.	.	.	ENSP00000453153	.	1/1	.	.	.	.	.	.	.	.	COSM3444425	1/1	PASS	ENST00000560104	Transcript	.	.	ENSG00000259571	33495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	1	BLID_HUMAN	BLID	HGNC	.	.	UPI0000161930	SNV	BLID,missense_variant,p.Pro57His,ENST00000560104,;RP11-166D19.1,intron_variant,,ENST00000534297,;	463	149	172	SUCCESS
UBASH3B	84959	.	GRCh37	11	122659819	122659819	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	134	1	ENST00000284273.5:c.783C>T	p.Val261=	p.V261=	ENST00000284273	NM_032873.4	261	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31694.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCATCTA	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF14604,hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24,PROSITE_profiles:PS50002	.	.	ENSP00000284273	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000284273	Transcript	.	.	ENSG00000154127	29884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBS3B_HUMAN	UBASH3B	HGNC	.	.	UPI0000047471	SNV	UBASH3B,synonymous_variant,p.%3D,ENST00000284273,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000529998,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000526493,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000530917,;	1158	135	119	SUCCESS
VWA5A	4013	.	GRCh37	11	124016605	124016605	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771989704	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	25	155	0	ENST00000392748.1:c.2314A>T	p.Ile772Phe	p.I772F	ENST00000392748	NM_014622.4	772	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS8444.1	2314	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTATTACT	NONE	.	.	.	.	.	ENSP00000407726	.	19/19	.	.	.	.	.	.	.	.	rs771989704	19/19	PASS	ENST00000456829	Transcript	.	.	ENSG00000110002	6658	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.321)	.	deleterious(0.03)	.	VMA5A_HUMAN	VWA5A	HGNC	.	.	UPI0000158B80	SNV	VWA5A,missense_variant,p.Ile772Phe,ENST00000456829,;VWA5A,missense_variant,p.Ile772Phe,ENST00000392748,;VWA5A,3_prime_UTR_variant,,ENST00000360334,;	2565	155	174	SUCCESS
OPCML	4978	.	GRCh37	11	132306092	132306092	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	19	115	0	ENST00000331898.7:c.825A>G	p.Lys275=	p.K275=	ENST00000331898	NM_002545.3	275	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS8492.1	825	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCTTTGTT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831,PROSITE_profiles:PS50835	.	.	ENSP00000330862	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000331898	Transcript	.	.	ENSG00000183715	8143	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OPCM_HUMAN	OPCML	HGNC	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN	.	UPI0000055AE0	SNV	OPCML,synonymous_variant,p.%3D,ENST00000374778,;OPCML,synonymous_variant,p.%3D,ENST00000541867,;OPCML,synonymous_variant,p.%3D,ENST00000524381,;OPCML,synonymous_variant,p.%3D,ENST00000331898,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;	1404	115	135	SUCCESS
KRTAP5-3	387266	.	GRCh37	11	1629511	1629511	+	synonymous_variant	Silent	SNP	G	G	A	rs371318576	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	42	0	ENST00000399685.1:c.105C>T	p.Cys35=	p.C35=	ENST00000399685	NM_001012708.2	35	tgC/tgT	0	A:0.0002	.	.	.	.	A	C	protein_coding	YES	CCDS41591.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGCAGCC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF16	.	A:0	ENSP00000382592	.	1/1	.	.	.	.	.	.	.	.	rs371318576	1/1	PASS	ENST00000399685	Transcript	.	.	ENSG00000196224	23598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA53_HUMAN	KRTAP5-3	HGNC	.	.	UPI000037605E	SNV	KRTAP5-3,synonymous_variant,p.%3D,ENST00000399685,;	183	42	37	SUCCESS
ABCC8	6833	.	GRCh37	11	17449458	17449458	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	16	127	1	ENST00000389817.3:c.2072A>T	p.Asp691Val	p.D691V	ENST00000389817		691	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS31437.1	2072	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATCTGGG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000374467	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.101)	.	deleterious(0)	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Asp691Val,ENST00000389817,;ABCC8,missense_variant,p.Asp691Val,ENST00000302539,;ABCC8,downstream_gene_variant,,ENST00000528202,;ABCC8,missense_variant,p.Asp681Val,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000531911,;ABCC8,downstream_gene_variant,,ENST00000526002,;ABCC8,downstream_gene_variant,,ENST00000532728,;	2141	128	130	SUCCESS
TNNT3	7140	.	GRCh37	11	1955022	1955022	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	22	165	0	ENST00000397301.1:c.276C>A	p.Ala92=	p.A92=	ENST00000397301		92	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7727.1	243	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCCGGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF4,Pfam_domain:PF00992	.	.	ENSP00000278317	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000278317	Transcript	.	.	ENSG00000130595	11950	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNNT3_HUMAN	TNNT3	HGNC	.	.	UPI000013DB6C	SNV	TNNT3,synonymous_variant,p.%3D,ENST00000381548,;TNNT3,synonymous_variant,p.%3D,ENST00000381557,;TNNT3,synonymous_variant,p.%3D,ENST00000453458,;TNNT3,synonymous_variant,p.%3D,ENST00000381589,;TNNT3,synonymous_variant,p.%3D,ENST00000446240,;TNNT3,synonymous_variant,p.%3D,ENST00000381558,;TNNT3,synonymous_variant,p.%3D,ENST00000360603,;TNNT3,synonymous_variant,p.%3D,ENST00000381563,;TNNT3,synonymous_variant,p.%3D,ENST00000397304,;TNNT3,synonymous_variant,p.%3D,ENST00000381561,;TNNT3,synonymous_variant,p.%3D,ENST00000381549,;TNNT3,synonymous_variant,p.%3D,ENST00000381579,;TNNT3,synonymous_variant,p.%3D,ENST00000397301,;TNNT3,synonymous_variant,p.%3D,ENST00000344578,;TNNT3,synonymous_variant,p.%3D,ENST00000278317,;TNNT3,non_coding_transcript_exon_variant,,ENST00000492075,;TNNT3,upstream_gene_variant,,ENST00000473100,;TNNT3,upstream_gene_variant,,ENST00000493234,;	462	165	201	SUCCESS
ODF3	113746	.	GRCh37	11	198506	198506	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769115234	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	19	149	0	ENST00000325113.4:c.455C>A	p.Thr152Asn	p.T152N	ENST00000325113	NM_053280.3	152	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS7688.1	455	RADIA|MUTECT|MUSE|VARSCANS	.	CAATACCGTCG	NONE	byFrequency	.	hmmpanther:PTHR21580:SF7,hmmpanther:PTHR21580,Pfam_domain:PF07004	.	.	ENSP00000325868	.	5/7	.	.	.	.	.	.	.	.	rs769115234	5/7	PASS	ENST00000325113	Transcript	.	.	ENSG00000177947	19905	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.771)	.	deleterious(0.01)	.	ODF3A_HUMAN	ODF3	HGNC	.	.	UPI0000072C66	SNV	ODF3,missense_variant,p.Thr152Asn,ENST00000525282,;ODF3,missense_variant,p.Thr152Asn,ENST00000325113,;BET1L,intron_variant,,ENST00000410108,;BET1L,downstream_gene_variant,,ENST00000382762,;SCGB1C1,downstream_gene_variant,,ENST00000342878,;ODF3,downstream_gene_variant,,ENST00000342593,;BET1L,downstream_gene_variant,,ENST00000325147,;ODF3,non_coding_transcript_exon_variant,,ENST00000531679,;AC069287.1,downstream_gene_variant,,ENST00000433234,;	772	149	137	SUCCESS
INS-IGF2	723961	.	GRCh37	11	2170519	2170519	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	55	0	ENST00000356578.4:c.244A>T	p.Thr82Ser	p.T82S	ENST00000356578		82	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS41598.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGTGGCGT	NONE	.	.	SMART_domains:SM00078	.	.	ENSP00000380440	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000397270	Transcript	.	.	ENSG00000129965	33527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	deleterious_low_confidence(0.03)	.	INSR2_HUMAN	INS-IGF2	HGNC	.	.	UPI00001F9AED	SNV	INS-IGF2,missense_variant,p.Thr82Ser,ENST00000397270,;IGF2,5_prime_UTR_variant,,ENST00000300632,;IGF2-AS,downstream_gene_variant,,ENST00000381363,;IGF2-AS,downstream_gene_variant,,ENST00000381361,;IGF2-AS,downstream_gene_variant,,ENST00000445504,;INS-IGF2,non_coding_transcript_exon_variant,,ENST00000481781,;INS-IGF2,missense_variant,p.Thr82Ser,ENST00000356578,;INS-IGF2,non_coding_transcript_exon_variant,,ENST00000476874,;	303	55	59	SUCCESS
TSSC4	10078	.	GRCh37	11	2424378	2424378	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	90	0	ENST00000333256.6:c.515A>C	p.Glu172Ala	p.E172A	ENST00000333256		172	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS7735.1	515	MUTECT|MUSE	.	GACCGAGGTCA	NONE	.	.	Pfam_domain:PF15264,hmmpanther:PTHR13445,hmmpanther:PTHR13445:SF3	.	.	ENSP00000331087	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333256	Transcript	.	.	ENSG00000184281	12386	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.864)	.	deleterious(0.02)	.	TSSC4_HUMAN	TSSC4	HGNC	E9PME3_HUMAN,E9PL88_HUMAN,C9JHT9_HUMAN,C9JDU0_HUMAN	.	UPI0000161FA5	SNV	TSSC4,missense_variant,p.Glu172Ala,ENST00000451491,;TSSC4,missense_variant,p.Glu172Ala,ENST00000496468,;TSSC4,missense_variant,p.Glu172Ala,ENST00000437110,;TSSC4,missense_variant,p.Glu108Ala,ENST00000380992,;TSSC4,missense_variant,p.Glu108Ala,ENST00000440813,;TSSC4,missense_variant,p.Glu108Ala,ENST00000380996,;TSSC4,missense_variant,p.Glu172Ala,ENST00000333256,;TRPM5,downstream_gene_variant,,ENST00000533060,;TRPM5,downstream_gene_variant,,ENST00000533881,;TSSC4,downstream_gene_variant,,ENST00000435795,;TSSC4,downstream_gene_variant,,ENST00000485682,;TRPM5,downstream_gene_variant,,ENST00000528453,;TRPM5,downstream_gene_variant,,ENST00000452833,;TRPM5,downstream_gene_variant,,ENST00000155858,;AC124057.5,upstream_gene_variant,,ENST00000433035,;TSSC4,splice_region_variant,,ENST00000467308,;	958	90	80	SUCCESS
CCDC34	91057	.	GRCh37	11	27384586	27384586	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	53	0	ENST00000328697.6:c.156G>T	p.Ser52=	p.S52=	ENST00000328697	NM_030771.1	52	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS31448.1	156	MUTECT|MUSE	.	GGCGGCGACGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23247:SF1,hmmpanther:PTHR23247	.	.	ENSP00000330240	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000328697	Transcript	.	.	ENSG00000109881	25079	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD34_HUMAN	CCDC34	HGNC	.	.	UPI000050C095	SNV	CCDC34,synonymous_variant,p.%3D,ENST00000328697,;CCDC34,synonymous_variant,p.%3D,ENST00000317945,;LGR4,downstream_gene_variant,,ENST00000389858,;LGR4,downstream_gene_variant,,ENST00000379214,;	830	53	54	SUCCESS
SLC1A2	6506	.	GRCh37	11	35287013	35287013	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	43	0	ENST00000278379.3:c.1653+61A>T		p.*551*	ENST00000278379	NM_004171.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31459.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTAAAGA	NONE	.	.	.	.	.	ENSP00000278379	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278379	Transcript	.	.	ENSG00000110436	10940	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAA2_HUMAN	SLC1A2	HGNC	A2A2U1_HUMAN	.	UPI0000129B12	SNV	SLC1A2,3_prime_UTR_variant,,ENST00000606205,;SLC1A2,intron_variant,,ENST00000395753,;SLC1A2,intron_variant,,ENST00000395750,;SLC1A2,intron_variant,,ENST00000464522,;SLC1A2,intron_variant,,ENST00000278379,;SLC1A2,downstream_gene_variant,,ENST00000531628,;SLC1A2,intron_variant,,ENST00000479543,;	.	43	51	SUCCESS
COMMD9	29099	.	GRCh37	11	36296268	36296268	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1037839504	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	159	232	0	ENST00000263401.5:c.511G>A	p.Val171Met	p.V171M	ENST00000263401	NM_014186.3	171	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS7900.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGGTGA	NONE	.	.	Pfam_domain:PF07258,hmmpanther:PTHR15663,PROSITE_profiles:PS51269	.	.	ENSP00000263401	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000263401	Transcript	.	.	ENSG00000110442	25014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.37)	.	COMD9_HUMAN	COMMD9	HGNC	Q53FR9_HUMAN,B4DQW0_HUMAN	.	UPI000006F27A	SNV	COMMD9,missense_variant,p.Arg159His,ENST00000532705,;COMMD9,missense_variant,p.Val171Met,ENST00000263401,;COMMD9,missense_variant,p.Val129Met,ENST00000452374,;LINC00610,upstream_gene_variant,,ENST00000355500,;COMMD9,upstream_gene_variant,,ENST00000533308,;COMMD9,non_coding_transcript_exon_variant,,ENST00000533643,;COMMD9,downstream_gene_variant,,ENST00000526789,;COMMD9,downstream_gene_variant,,ENST00000528608,;	528	232	317	SUCCESS
RAG1	5896	.	GRCh37	11	36596385	36596385	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	37	143	0	ENST00000299440.5:c.1531A>T	p.Lys511Ter	p.K511*	ENST00000299440	NM_000448.2	511	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS7902.1	1531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGAAGGTA	NONE	.	.	hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,stop_gained,p.Lys511Ter,ENST00000299440,;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,stop_gained,p.Lys511Ter,ENST00000534663,;	1643	143	193	SUCCESS
RAG2	5897	.	GRCh37	11	36614459	36614459	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	105	0	ENST00000311485.3:c.1260C>A	p.Cys420Ter	p.C420*	ENST00000311485	NM_000536.3	420	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS7903.1	1260	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGGCAGCA	NONE	.	.	hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Pfam_domain:PF13341,Superfamily_domains:SSF57903	.	.	ENSP00000308620	.	2/2	.	.	.	.	.	.	.	.	COSM3447090	2/2	PASS	ENST00000311485	Transcript	.	.	ENSG00000175097	9832	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	RAG2_HUMAN	RAG2	HGNC	Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN	.	UPI00001330E9	SNV	RAG2,stop_gained,p.Cys420Ter,ENST00000311485,;C11orf74,upstream_gene_variant,,ENST00000530697,;C11orf74,upstream_gene_variant,,ENST00000534635,;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000347206,;RAG2,downstream_gene_variant,,ENST00000529083,;C11orf74,upstream_gene_variant,,ENST00000527108,;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000446510,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000334307,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	1422	105	92	SUCCESS
MADD	8567	.	GRCh37	11	47315515	47315515	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375878509	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	28	117	0	ENST00000311027.5:c.3497G>A	p.Ser1166Asn	p.S1166N	ENST00000311027	NM_003682.3	1166	aGc/aAc	0	A:0	.	.	.	.	A	S/N	protein_coding	YES	CCDS7930.1	3497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAGCCTGA	NONE	byCluster	.	hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008	.	A:0.0001	ENSP00000310933	.	22/36	.	.	.	.	.	.	.	.	rs375878509	22/36	PASS	ENST00000311027	Transcript	.	.	ENSG00000110514	6766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.06)	.	MADD_HUMAN	MADD	HGNC	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN	.	UPI000013E874	SNV	MADD,missense_variant,p.Ser1166Asn,ENST00000395336,;MADD,missense_variant,p.Ser1148Asn,ENST00000349238,;MADD,missense_variant,p.Ser1128Asn,ENST00000402192,;MADD,missense_variant,p.Ser1166Asn,ENST00000311027,;MADD,missense_variant,p.Ser1085Asn,ENST00000402799,;MADD,missense_variant,p.Ser1085Asn,ENST00000406482,;MADD,missense_variant,p.Ser1085Asn,ENST00000395344,;MADD,missense_variant,p.Ser1128Asn,ENST00000342922,;MADD,missense_variant,p.Ser1105Asn,ENST00000407859,;MADD,5_prime_UTR_variant,,ENST00000405573,;MADD,downstream_gene_variant,,ENST00000524530,;MADD,downstream_gene_variant,,ENST00000524686,;	3662	117	122	SUCCESS
SPI1	6688	.	GRCh37	11	47376978	47376978	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	106	0	ENST00000378538.3:c.613C>G	p.His205Asp	p.H205D	ENST00000378538	NM_003120.2	205	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS44591.1	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTGCTTGG	NONE	.	.	Prints_domain:PR00454,Superfamily_domains:SSF46785,SMART_domains:SM00413,Pfam_domain:PF00178,Gene3D:1.10.10.10,hmmpanther:PTHR11849:SF16,hmmpanther:PTHR11849,PROSITE_profiles:PS50061	.	.	ENSP00000227163	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000227163	Transcript	.	.	ENSG00000066336	11241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.01)	.	SPI1_HUMAN	SPI1	HGNC	.	.	UPI0000D4ECF1	SNV	SPI1,missense_variant,p.His205Asp,ENST00000378538,;SPI1,missense_variant,p.His206Asp,ENST00000227163,;SPI1,3_prime_UTR_variant,,ENST00000533030,;MYBPC3,upstream_gene_variant,,ENST00000545968,;MYBPC3,upstream_gene_variant,,ENST00000256993,;MYBPC3,upstream_gene_variant,,ENST00000399249,;SPI1,downstream_gene_variant,,ENST00000533968,;MYBPC3,upstream_gene_variant,,ENST00000544791,;	654	106	98	SUCCESS
OR4A5	81318	.	GRCh37	11	51412084	51412084	+	synonymous_variant	Silent	SNP	G	G	A	rs866826742	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	32	253	0	ENST00000319760.6:c.312C>T	p.Phe104=	p.F104=	ENST00000319760	NM_001005272.3	104	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS31497.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGAAATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF299,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000367664	.	1/1	.	.	.	.	.	.	.	.	COSM1475503	1/1	PASS	ENST00000319760	Transcript	.	.	ENSG00000221840	15162	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	OR4A5_HUMAN	OR4A5	HGNC	.	.	UPI0000041D58	SNV	OR4A5,synonymous_variant,p.%3D,ENST00000319760,;	365	253	234	SUCCESS
OR5D18	219438	.	GRCh37	11	55587463	55587463	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1302334260	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	65	266	1	ENST00000333976.4:c.358G>A	p.Ala120Thr	p.A120T	ENST00000333976	NM_001001952.1	120	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31510.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGCCTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	COSM1508541	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.957)	.	deleterious(0)	1	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Ala120Thr,ENST00000333976,;	378	267	319	SUCCESS
PHRF1	57661	.	GRCh37	11	611702	611702	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752498049	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	57	0	ENST00000264555.5:c.4875C>A	p.Asp1625Glu	p.D1625E	ENST00000264555	NM_020901.2	1625	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS44507.1	4872	MUTECT|MUSE|VARSCANS	.	GTGGACAAGTA	NONE	.	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	.	ENSP00000410626	.	18/18	.	.	.	.	.	.	.	.	rs752498049	18/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.866)	.	tolerated(0.58)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Asp1625Glu,ENST00000264555,;PHRF1,missense_variant,p.Asp1623Glu,ENST00000413872,;PHRF1,missense_variant,p.Asp1621Glu,ENST00000533464,;PHRF1,missense_variant,p.Asp1624Glu,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;CDHR5,downstream_gene_variant,,ENST00000397542,;CDHR5,downstream_gene_variant,,ENST00000358353,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,3_prime_UTR_variant,,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000525750,;IRF7,downstream_gene_variant,,ENST00000533190,;	4965	57	69	SUCCESS
AHNAK	79026	.	GRCh37	11	62290481	62290481	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	36	132	0	ENST00000378024.4:c.11408A>G	p.Lys3803Arg	p.K3803R	ENST00000378024	NM_001620.2	3803	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS31584.1	11408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCTTCAGG	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Lys3803Arg,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	11683	132	195	SUCCESS
PLCB3	5331	.	GRCh37	11	64030000	64030000	+	synonymous_variant	Silent	SNP	G	G	A	rs1049791374	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	46	0	ENST00000279230.6:c.2160G>A	p.Val720=	p.V720=	ENST00000279230		720	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8064.1	2160	RADIA|MUTECT|MUSE|VARSCANS	.	ATCGTGGATGG	NONE	.	.	PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336,PROSITE_profiles:PS50004	.	.	ENSP00000443631	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000540288	Transcript	.	.	ENSG00000149782	9056	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLCB3_HUMAN	PLCB3	HGNC	.	.	UPI0000131AFF	SNV	PLCB3,synonymous_variant,p.%3D,ENST00000325234,;PLCB3,synonymous_variant,p.%3D,ENST00000540288,;PLCB3,synonymous_variant,p.%3D,ENST00000279230,;PLCB3,upstream_gene_variant,,ENST00000536243,;	2263	46	34	SUCCESS
MAP3K11	4296	.	GRCh37	11	65365896	65365896	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs757921400	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	30	0	ENST00000309100.3:c.2410A>G	p.Thr804Ala	p.T804A	ENST00000309100	NM_002419.3	804	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8107.1	2410	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTCCAGG	NONE	.	.	PIRSF_domain:PIRSF000556	.	.	ENSP00000309597	.	10/10	.	.	.	.	.	.	.	.	rs757921400	10/10	PASS	ENST00000309100	Transcript	.	.	ENSG00000173327	6850	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.899)	.	tolerated_low_confidence(0.09)	.	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,missense_variant,p.Thr220Ala,ENST00000532507,;MAP3K11,missense_variant,p.Thr804Ala,ENST00000309100,;MAP3K11,missense_variant,p.Thr547Ala,ENST00000530153,;KCNK7,upstream_gene_variant,,ENST00000530380,;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000340313,;KCNK7,upstream_gene_variant,,ENST00000525254,;KCNK7,upstream_gene_variant,,ENST00000394216,;KCNK7,upstream_gene_variant,,ENST00000394217,;MAP3K11,downstream_gene_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,;	2896	30	37	SUCCESS
DNHD1	144132	.	GRCh37	11	6579426	6579426	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	62	134	0	ENST00000254579.6:c.8901T>C	p.Pro2967=	p.P2967=	ENST00000254579	NM_144666.2	2967	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44532.1	8901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCTGGCCA	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	25/43	.	.	.	.	.	.	.	.	.	25/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,synonymous_variant,p.%3D,ENST00000527990,;DNHD1,synonymous_variant,p.%3D,ENST00000254579,;DNHD1,synonymous_variant,p.%3D,ENST00000524401,;DNHD1,non_coding_transcript_exon_variant,,ENST00000531903,;DNHD1,non_coding_transcript_exon_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000526027,;	9465	134	126	SUCCESS
RBM14	10432	.	GRCh37	11	66392861	66392861	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	57	0	ENST00000310137.4:c.1514G>A	p.Gly505Glu	p.G505E	ENST00000310137	NM_006328.3	505	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS8147.1	1514	RADIA|MUTECT|MUSE	.	CTACGGGGCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000311747	.	2/3	.	.	.	.	.	.	.	.	COSM1356280	2/3	PASS	ENST00000310137	Transcript	.	.	ENSG00000239306	14219	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	unknown(0)	.	deleterious(0)	1	RBM14_HUMAN	RBM14	HGNC	B4DNG4_HUMAN	.	UPI0000073D46	SNV	RBM14,missense_variant,p.Gly505Glu,ENST00000310137,;RBM14-RBM4,intron_variant,,ENST00000412278,;RBM4,intron_variant,,ENST00000514361,;RBM4,intron_variant,,ENST00000503028,;RBM14-RBM4,intron_variant,,ENST00000500635,;RBM14,intron_variant,,ENST00000393979,;RBM14,intron_variant,,ENST00000409738,;RBM14,downstream_gene_variant,,ENST00000443702,;RBM14,downstream_gene_variant,,ENST00000409372,;RBM14-RBM4,intron_variant,,ENST00000511114,;RBM14,downstream_gene_variant,,ENST00000496694,;RBM14,downstream_gene_variant,,ENST00000461478,;RBM14-RBM4,intron_variant,,ENST00000421355,;	1653	57	62	SUCCESS
ALDH3B2	222	.	GRCh37	11	67434460	67434460	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	22	97	0	ENST00000349015.3:c.-54C>T		p.*18*	ENST00000349015	NM_000695.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31622.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGCTCAG	NONE	.	.	.	.	.	ENSP00000255084	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000349015	Transcript	.	.	ENSG00000132746	411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL3B2_HUMAN	ALDH3B2	HGNC	E9PKY9_HUMAN,E9PJV0_HUMAN	.	UPI000013CE83	SNV	ALDH3B2,5_prime_UTR_variant,,ENST00000349015,;ALDH3B2,5_prime_UTR_variant,,ENST00000525827,;ALDH3B2,5_prime_UTR_variant,,ENST00000530069,;ALDH3B2,5_prime_UTR_variant,,ENST00000528756,;ALDH3B2,upstream_gene_variant,,ENST00000531248,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000533962,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000531881,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000534425,;	386	98	116	SUCCESS
OR10A5	144124	.	GRCh37	11	6867579	6867579	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	363	45	408	0	ENST00000299454.4:c.666T>C	p.Ile222=	p.I222=	ENST00000299454		222	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS7773.1	666	RADIA|MUTECT|MUSE|VARSCANS	.	CGCATTGCTGC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF90,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000299454	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299454	Transcript	.	.	ENSG00000166363	15131	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O10A5_HUMAN	OR10A5	HGNC	.	.	UPI000004C155	SNV	OR10A5,synonymous_variant,p.%3D,ENST00000379831,;OR10A5,synonymous_variant,p.%3D,ENST00000299454,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	697	408	408	SUCCESS
FOLR1	2348	.	GRCh37	11	71903312	71903312	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	27	196	0	ENST00000312293.4:c.95A>C	p.Glu32Ala	p.E32A	ENST00000312293	NM_016725.2	32	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS8211.1	95	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGAGCTTC	NONE	.	.	hmmpanther:PTHR10517:SF15,hmmpanther:PTHR10517	.	.	ENSP00000377284	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000393679	Transcript	.	.	ENSG00000110195	3791	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.101)	.	tolerated(0.06)	.	FOLR1_HUMAN	FOLR1	HGNC	Q9NP04_HUMAN,Q96QD1_HUMAN,Q6LDL1_HUMAN	.	UPI0000000C4C	SNV	FOLR1,missense_variant,p.Glu32Ala,ENST00000393679,;FOLR1,missense_variant,p.Glu32Ala,ENST00000393676,;FOLR1,missense_variant,p.Glu32Ala,ENST00000312293,;FOLR1,missense_variant,p.Glu32Ala,ENST00000393681,;RP11-807H22.7,intron_variant,,ENST00000378140,;	531	196	207	SUCCESS
SYT9	143425	.	GRCh37	11	7334640	7334640	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773098666	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	22	88	0	ENST00000318881.6:c.512G>A	p.Arg171Gln	p.R171Q	ENST00000318881	NM_175733.3	171	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS7778.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCGAAGAC	NONE	byFrequency	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF174	.	.	ENSP00000324419	.	3/7	.	.	.	.	.	.	.	.	rs773098666,COSM4036608	3/7	PASS	ENST00000318881	Transcript	.	.	ENSG00000170743	19265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.961)	.	tolerated(0.39)	0,1	SYT9_HUMAN	SYT9	HGNC	.	.	UPI000000DB7B	SNV	SYT9,missense_variant,p.Arg171Gln,ENST00000318881,;SYT9,missense_variant,p.Arg139Gln,ENST00000396716,;SYT9,missense_variant,p.Arg139Gln,ENST00000524820,;SYT9,intron_variant,,ENST00000532592,;	749	88	116	SUCCESS
DLG2	1740	.	GRCh37	11	84634119	84634119	+	splice_donor_variant	Splice_Site	SNP	A	A	T	rs775634344	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	14	115	0	ENST00000398309.2:c.42+2T>A		p.X14_splice	ENST00000398309	NM_001364.3	14		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44690.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTACCTTC	NONE	.	.	.	.	.	ENSP00000365272	.	.	.	.	.	.	.	.	.	.	rs775634344	.	PASS	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	MODIFIER	6/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,splice_donor_variant,,ENST00000532653,;DLG2,splice_donor_variant,,ENST00000524982,;DLG2,splice_donor_variant,,ENST00000398309,;DLG2,intron_variant,,ENST00000527088,;DLG2,intron_variant,,ENST00000543673,;DLG2,intron_variant,,ENST00000376104,;DLG2,splice_donor_variant,,ENST00000530589,;DLG2,splice_donor_variant,,ENST00000529111,;	.	115	120	SUCCESS
TMEM135	65084	.	GRCh37	11	86782616	86782616	+	synonymous_variant	Silent	SNP	G	G	A	rs751626029	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	61	0	ENST00000305494.5:c.321G>A	p.Leu107=	p.L107=	ENST00000305494	NM_022918.3	107	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8280.1	321	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCCAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12459:SF4,hmmpanther:PTHR12459	.	.	ENSP00000306344	.	3/15	.	.	.	.	.	.	.	.	rs751626029	3/15	PASS	ENST00000305494	Transcript	.	.	ENSG00000166575	26167	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM135_HUMAN	TMEM135	HGNC	Q7Z760_HUMAN,F5H254_HUMAN,B4DKZ1_HUMAN	.	UPI00001FB0C7	SNV	TMEM135,synonymous_variant,p.%3D,ENST00000305494,;TMEM135,synonymous_variant,p.%3D,ENST00000525018,;TMEM135,synonymous_variant,p.%3D,ENST00000355734,;TMEM135,synonymous_variant,p.%3D,ENST00000340353,;TMEM135,5_prime_UTR_variant,,ENST00000535167,;TMEM135,intron_variant,,ENST00000532959,;TMEM135,intron_variant,,ENST00000526733,;TMEM135,non_coding_transcript_exon_variant,,ENST00000531800,;TMEM135,non_coding_transcript_exon_variant,,ENST00000529023,;	360	61	54	SUCCESS
NAALAD2	10003	.	GRCh37	11	89896533	89896533	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	56	1	ENST00000534061.1:c.1131C>G	p.Asp377Glu	p.D377E	ENST00000534061	NM_005467.3	377	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS8288.1	1131	RADIA|MUTECT	.	ATTGACCCAAC	NONE	.	.	Superfamily_domains:SSF53187,Pfam_domain:PF04389,Gene3D:3.40.630.10,hmmpanther:PTHR10404:SF38,hmmpanther:PTHR10404	.	.	ENSP00000432481	.	10/19	.	.	.	.	.	.	.	.	COSM691104	10/19	PASS	ENST00000534061	Transcript	.	.	ENSG00000077616	14526	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	NALD2_HUMAN	NAALAD2	HGNC	E9PJ53_HUMAN,E9PII2_HUMAN	.	UPI0000031A85	SNV	NAALAD2,missense_variant,p.Asp284Glu,ENST00000525171,;NAALAD2,missense_variant,p.Asp377Glu,ENST00000534061,;NAALAD2,missense_variant,p.Asp344Glu,ENST00000321955,;NAALAD2,intron_variant,,ENST00000375944,;NAALAD2,3_prime_UTR_variant,,ENST00000527493,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000524501,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000532691,;NAALAD2,downstream_gene_variant,,ENST00000529090,;	1361	57	61	SUCCESS
TMEM52B	120939	.	GRCh37	12	10339065	10339065	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779133035	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	22	115	0	ENST00000381923.2:c.184T>C	p.Ser62Pro	p.S62P	ENST00000381923	NM_001079815.1	62	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS8619.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGTCCCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF14979	.	.	ENSP00000298530	.	3/4	.	.	.	.	.	.	.	.	rs779133035	3/4	PASS	ENST00000298530	Transcript	.	.	ENSG00000165685	26438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0.02)	.	TM52B_HUMAN	TMEM52B	HGNC	.	.	UPI000006D360	SNV	TMEM52B,missense_variant,p.Ser62Pro,ENST00000536952,;TMEM52B,missense_variant,p.Ser42Pro,ENST00000298530,;TMEM52B,missense_variant,p.Ser62Pro,ENST00000381923,;TMEM52B,missense_variant,p.Ser62Pro,ENST00000543484,;TMEM52B,non_coding_transcript_exon_variant,,ENST00000546153,;	702	115	135	SUCCESS
CMKLR1	1240	.	GRCh37	12	108686719	108686719	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	5	125	0	ENST00000312143.7:c.21T>A	p.Asp7Glu	p.D7E	ENST00000312143	NM_001142344.1	7	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS44965.1	21	MUTECT|MUSE	.	TTGTAATCTTC	NONE	.	.	Prints_domain:PR01126,hmmpanther:PTHR24227:SF2,hmmpanther:PTHR24227	.	.	ENSP00000311733	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312143	Transcript	.	.	ENSG00000174600	2121	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.41)	.	CML1_HUMAN	CMKLR1	HGNC	F8VYN7_HUMAN,F8VSC8_HUMAN	.	UPI0000127BD4	SNV	CMKLR1,missense_variant,p.Asp7Glu,ENST00000312143,;CMKLR1,missense_variant,p.Asp7Glu,ENST00000550573,;CMKLR1,missense_variant,p.Asp7Glu,ENST00000549466,;CMKLR1,missense_variant,p.Asp5Glu,ENST00000397688,;CMKLR1,missense_variant,p.Asp5Glu,ENST00000552995,;CMKLR1,missense_variant,p.Asp7Glu,ENST00000412676,;CMKLR1,missense_variant,p.Asp7Glu,ENST00000550402,;	385	125	109	SUCCESS
TRPV4	59341	.	GRCh37	12	110230527	110230527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	15	115	0	ENST00000261740.2:c.1754G>T	p.Gly585Val	p.G585V	ENST00000261740	NM_021625.4	585	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9134.1	1754	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCCCAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10582:SF4,hmmpanther:PTHR10582,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870,Prints_domain:PR01769	.	.	ENSP00000406191	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000418703	Transcript	.	.	ENSG00000111199	18083	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRPV4_HUMAN	TRPV4	HGNC	F5H6Q4_HUMAN	.	UPI000003BB44	SNV	TRPV4,missense_variant,p.Gly538Val,ENST00000392719,;TRPV4,missense_variant,p.Gly585Val,ENST00000261740,;TRPV4,missense_variant,p.Gly525Val,ENST00000537083,;TRPV4,missense_variant,p.Gly525Val,ENST00000346520,;TRPV4,missense_variant,p.Gly478Val,ENST00000544971,;TRPV4,missense_variant,p.Gly538Val,ENST00000541794,;TRPV4,missense_variant,p.Gly585Val,ENST00000418703,;TRPV4,missense_variant,p.Gly551Val,ENST00000536838,;TRPV4,3_prime_UTR_variant,,ENST00000538125,;	1849	115	135	SUCCESS
RBM19	9904	.	GRCh37	12	114296692	114296692	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	88	0	ENST00000261741.5:c.2568G>A	p.Gly856=	p.G856=	ENST00000261741	NM_016196.3	856	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9172.1	2568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCCCCAAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF312,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000442053	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000545145	Transcript	.	.	ENSG00000122965	29098	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM19_HUMAN	RBM19	HGNC	.	.	UPI000013D1EC	SNV	RBM19,synonymous_variant,p.%3D,ENST00000545145,;RBM19,synonymous_variant,p.%3D,ENST00000392561,;RBM19,synonymous_variant,p.%3D,ENST00000261741,;RBM19,synonymous_variant,p.%3D,ENST00000552384,;	2647	88	79	SUCCESS
HIP1R	9026	.	GRCh37	12	123338690	123338690	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	75	0	ENST00000253083.4:c.678C>T	p.Leu226=	p.L226=	ENST00000253083	NM_003959.1	226	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31922.1	678	MUTECT|VARSCANS	.	CACCTCTACCA	NONE	.	.	hmmpanther:PTHR10407,hmmpanther:PTHR10407:SF10,Pfam_domain:PF07651	.	.	ENSP00000253083	.	8/32	.	.	.	.	.	.	.	.	.	8/32	PASS	ENST00000253083	Transcript	.	.	ENSG00000130787	18415	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HIP1R_HUMAN	HIP1R	HGNC	B3KN98_HUMAN	.	UPI000012C72C	SNV	HIP1R,synonymous_variant,p.%3D,ENST00000253083,;HIP1R,non_coding_transcript_exon_variant,,ENST00000452196,;HIP1R,non_coding_transcript_exon_variant,,ENST00000535831,;HIP1R,non_coding_transcript_exon_variant,,ENST00000536847,;HIP1R,non_coding_transcript_exon_variant,,ENST00000536772,;HIP1R,upstream_gene_variant,,ENST00000541712,;	803	75	52	SUCCESS
TMEM132D	121256	.	GRCh37	12	129559205	129559205	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1384441710	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	96	316	2	ENST00000422113.2:c.2515G>A	p.Gly839Arg	p.G839R	ENST00000422113	NM_133448.2	839	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS9266.1	2515	RADIA|SOMATICSNIPER|VARSCANS	.	CTGTCCTTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13388	.	.	ENSP00000408581	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.578)	.	tolerated(0.16)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Gly839Arg,ENST00000422113,;TMEM132D,missense_variant,p.Gly377Arg,ENST00000389441,;	2842	318	305	SUCCESS
TMEM132D	121256	.	GRCh37	12	129559407	129559407	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs577207277	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	13	238	0	ENST00000422113.2:c.2313G>C	p.Met771Ile	p.M771I	ENST00000422113	NM_133448.2	771	atG/atC	0	.	A:0.0008	.	A:0	.	G	M/I	protein_coding	YES	CCDS9266.1	2313	MUTECT|MUSE	.	ATAACCATTTC	NONE	by1000G	.	hmmpanther:PTHR13388	A:0	.	ENSP00000408581	A:0	9/9	.	.	.	.	.	.	.	.	rs577207277	9/9	PASS	ENST00000422113	Transcript	.	A:0.0002	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.557)	A:0	deleterious(0.03)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Met771Ile,ENST00000422113,;TMEM132D,missense_variant,p.Met309Ile,ENST00000389441,;	2640	238	244	SUCCESS
PLBD1	79887	.	GRCh37	12	14706133	14706133	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	11	93	0	ENST00000240617.5:c.329C>G	p.Thr110Ser	p.T110S	ENST00000240617	NM_024829.5	110	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS31751.1	329	MUTECT|MUSE	.	GGGCAGTGAGG	NONE	.	.	hmmpanther:PTHR12370,Pfam_domain:PF04916	.	.	ENSP00000240617	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000240617	Transcript	.	.	ENSG00000121316	26215	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	PLBL1_HUMAN	PLBD1	HGNC	F5H053_HUMAN	.	UPI00004565DA	SNV	PLBD1,missense_variant,p.Thr110Ser,ENST00000240617,;PLBD1,missense_variant,p.Thr63Ser,ENST00000540572,;RN7SKP134,downstream_gene_variant,,ENST00000363960,;PLBD1,intron_variant,,ENST00000541618,;	982	93	125	SUCCESS
PTPRO	5800	.	GRCh37	12	15652426	15652426	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	36	143	0	ENST00000281171.4:c.559T>A	p.Tyr187Asn	p.Y187N	ENST00000281171	NM_030667.2	187	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS8675.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTTATAGT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251	.	.	ENSP00000281171	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000281171	Transcript	.	.	ENSG00000151490	9678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PTPRO_HUMAN	PTPRO	HGNC	B4DS16_HUMAN	.	UPI000013DC62	SNV	PTPRO,missense_variant,p.Tyr187Asn,ENST00000348962,;PTPRO,missense_variant,p.Tyr187Asn,ENST00000543886,;PTPRO,missense_variant,p.Tyr187Asn,ENST00000281171,;	889	144	155	SUCCESS
IQSEC3	440073	.	GRCh37	12	266236	266236	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	54	174	1	ENST00000538872.1:c.2199G>A	p.Glu733=	p.E733=	ENST00000538872		733	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS53728.1	2199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGAGGCCCT	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000437554	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000538872	Transcript	.	.	ENSG00000120645	29193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQEC3_HUMAN	IQSEC3	HGNC	.	.	UPI0000DBEEF0	SNV	IQSEC3,synonymous_variant,p.%3D,ENST00000538872,;IQSEC3,synonymous_variant,p.%3D,ENST00000382841,;IQSEC3,synonymous_variant,p.%3D,ENST00000326261,;	2317	175	197	SUCCESS
BICD1	636	.	GRCh37	12	32260378	32260378	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	122	0	ENST00000281474.5:c.113G>A	p.Gly38Glu	p.G38E	ENST00000281474	NM_001714.2	38	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS8726.1	113	MUTECT|MUSE|VARSCANS	.	GTACGGGCTGG	NONE	.	.	hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233	.	.	ENSP00000281474	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000281474	Transcript	.	.	ENSG00000151746	1049	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BICD1_HUMAN	BICD1	HGNC	.	.	UPI00001AEA67	SNV	BICD1,missense_variant,p.Gly38Glu,ENST00000281474,;BICD1,missense_variant,p.Gly38Glu,ENST00000548411,;BICD1,missense_variant,p.Gly38Glu,ENST00000550207,;BICD1,missense_variant,p.Gly38Glu,ENST00000551086,;BICD1,missense_variant,p.Gly38Glu,ENST00000551848,;RP11-843B15.2,non_coding_transcript_exon_variant,,ENST00000551974,;BICD1,missense_variant,p.Gly38Glu,ENST00000395758,;	216	122	112	SUCCESS
TUBA1A	7846	.	GRCh37	12	49578875	49578875	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs587784484	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	230	82	324	0	ENST00000295766.5:c.1274T>C	p.Met425Thr	p.M425T	ENST00000295766	NM_001270399.1	425	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS8781.1	1274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic	CAGCCATGTCC	NONE	.	.	hmmpanther:PTHR11588:SF65,hmmpanther:PTHR11588,Gene3D:1.10.287.600,Superfamily_domains:SSF55307,Prints_domain:PR01162	.	.	ENSP00000301071	.	4/4	.	.	.	.	.	.	.	.	CM103942,rs587784484	4/4	PASS	ENST00000301071	Transcript	.	.	ENSG00000167552	20766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.174)	.	deleterious_low_confidence(0.04)	.	TBA1A_HUMAN	TUBA1A	HGNC	F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN,F8VQQ4_HUMAN	.	UPI0000000DB2	SNV	TUBA1A,missense_variant,p.Met390Thr,ENST00000550767,;TUBA1A,missense_variant,p.Met425Thr,ENST00000295766,;TUBA1A,missense_variant,p.Met425Thr,ENST00000301071,;TUBA1A,downstream_gene_variant,,ENST00000546918,;TUBA1A,downstream_gene_variant,,ENST00000552924,;TUBA1A,downstream_gene_variant,,ENST00000547939,;TUBA1A,downstream_gene_variant,,ENST00000550811,;TUBA1C,upstream_gene_variant,,ENST00000549554,;TUBA1A,downstream_gene_variant,,ENST00000550254,;TUBA1A,downstream_gene_variant,,ENST00000548363,;	1619	324	313	SUCCESS
KRT73	319101	.	GRCh37	12	53012109	53012109	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs759065141	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	55	0	ENST00000305748.3:c.200G>A	p.Trp67Ter	p.W67*	ENST00000305748	NM_175068.2	67	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS8834.1	200	MUTECT|MUSE	.	CTGCCCACCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122	.	.	ENSP00000307014	.	1/9	.	.	.	.	.	.	.	.	rs759065141	1/9	PASS	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,stop_gained,p.Trp67Ter,ENST00000305748,;KRT73,upstream_gene_variant,,ENST00000552855,;RP11-641A6.2,downstream_gene_variant,,ENST00000549180,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;RP11-641A6.2,downstream_gene_variant,,ENST00000552364,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	235	55	39	SUCCESS
HELB	92797	.	GRCh37	12	66704296	66704296	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	16	93	0	ENST00000247815.4:c.1588A>T	p.Lys530Ter	p.K530*	ENST00000247815	NM_033647.3	530	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS8976.1	1588	RADIA|MUTECT|MUSE|VARSCANS	.	CGGACAAGGCT	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF97,Gene3D:3.40.50.300,Pfam_domain:PF13604,Superfamily_domains:SSF52540	.	.	ENSP00000247815	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000247815	Transcript	.	.	ENSG00000127311	17196	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HELB_HUMAN	HELB	HGNC	.	.	UPI000013CC2D	SNV	HELB,stop_gained,p.Lys530Ter,ENST00000247815,;HELB,stop_gained,p.Lys530Ter,ENST00000440906,;HELB,stop_gained,p.Lys530Ter,ENST00000545134,;HELB,stop_gained,p.Lys530Ter,ENST00000542394,;	1647	93	131	SUCCESS
C1R	715	.	GRCh37	12	7242776	7242776	+	synonymous_variant	Silent	SNP	C	C	G	rs781084847	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	85	0	ENST00000542285.1:c.297G>C	p.Pro99=	p.P99=	ENST00000542285		99	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	.	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCGGGGG	NONE	byFrequency	.	PROSITE_profiles:PS01180,hmmpanther:PTHR24265:SF78,hmmpanther:PTHR24265,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,PIRSF_domain:PIRSF001155,Superfamily_domains:SSF49854	.	.	ENSP00000438615	.	3/11	.	.	.	.	.	.	.	.	rs781084847	3/11	PASS	ENST00000542285	Transcript	.	.	ENSG00000159403	1246	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C1R	HGNC	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN	.	UPI00020653A8	SNV	C1R,synonymous_variant,p.%3D,ENST00000540242,;C1R,synonymous_variant,p.%3D,ENST00000536053,;C1R,synonymous_variant,p.%3D,ENST00000542285,;C1R,synonymous_variant,p.%3D,ENST00000542220,;C1R,splice_region_variant,,ENST00000543835,;C1R,5_prime_UTR_variant,,ENST00000540610,;C1R,5_prime_UTR_variant,,ENST00000538050,;C1R,5_prime_UTR_variant,,ENST00000541042,;C1R,intron_variant,,ENST00000535233,;C1RL,downstream_gene_variant,,ENST00000266542,;C1RL,downstream_gene_variant,,ENST00000545280,;C1RL,downstream_gene_variant,,ENST00000504702,;C1R,upstream_gene_variant,,ENST00000602298,;C1R,synonymous_variant,p.%3D,ENST00000543362,;C1RL,3_prime_UTR_variant,,ENST00000539803,;C1R,non_coding_transcript_exon_variant,,ENST00000545466,;C1R,non_coding_transcript_exon_variant,,ENST00000543851,;C1R,non_coding_transcript_exon_variant,,ENST00000540394,;C1R,downstream_gene_variant,,ENST00000536092,;	447	85	93	SUCCESS
TRHDE	29953	.	GRCh37	12	72936136	72936136	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	25	0	ENST00000261180.4:c.1653A>G		p.X551_splice	ENST00000261180	NM_013381.2	551	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS9004.1	1653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAAGTAAG	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:1.10.390.10,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	.	.	ENSP00000261180	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000261180	Transcript	.	.	ENSG00000072657	30748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRHDE_HUMAN	TRHDE	HGNC	.	.	UPI0000136D52	SNV	TRHDE,synonymous_variant,p.%3D,ENST00000261180,;TRHDE,synonymous_variant,p.%3D,ENST00000547300,;	1749	25	33	SUCCESS
PTPRQ	374462	.	GRCh37	12	81014030	81014030	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	51	166	0	ENST00000266688.5:c.5475A>G	p.Thr1825=	p.T1825=	ENST00000266688		1825	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	.	5475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACAGAAGG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527	.	.	ENSP00000266688	.	37/50	.	.	.	.	.	.	.	.	.	37/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,synonymous_variant,p.%3D,ENST00000266688,;	5475	166	177	SUCCESS
A2M	2	.	GRCh37	12	9258835	9258835	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	11	74	0	ENST00000318602.7:c.1101G>A	p.Gly367=	p.G367=	ENST00000318602	NM_000014.4	367	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44827.1	1101	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCCCAAA	NONE	.	.	hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412	.	.	ENSP00000323929	.	10/36	.	.	.	.	.	.	.	.	.	10/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	SNV	A2M,synonymous_variant,p.%3D,ENST00000318602,;A2M,downstream_gene_variant,,ENST00000404455,;A2M,non_coding_transcript_exon_variant,,ENST00000545828,;A2M,upstream_gene_variant,,ENST00000472360,;A2M,downstream_gene_variant,,ENST00000539638,;A2M,upstream_gene_variant,,ENST00000546069,;	1409	74	96	SUCCESS
NR2C1	7181	.	GRCh37	12	95422248	95422248	+	synonymous_variant	Silent	SNP	T	T	C	rs777918858	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	52	0	ENST00000333003.5:c.1446A>G	p.Leu482=	p.L482=	ENST00000333003	NM_003297.3	482	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9051.1	1446	MUTECT|MUSE	.	TCCTGTAGTTT	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000333275	.	12/14	.	.	.	.	.	.	.	.	rs777918858	12/14	PASS	ENST00000333003	Transcript	.	.	ENSG00000120798	7971	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NR2C1_HUMAN	NR2C1	HGNC	H9NIM2_HUMAN	.	UPI00001AE7E6	SNV	NR2C1,synonymous_variant,p.%3D,ENST00000333003,;NR2C1,intron_variant,,ENST00000551647,;NR2C1,downstream_gene_variant,,ENST00000393101,;NR2C1,downstream_gene_variant,,ENST00000330677,;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,non_coding_transcript_exon_variant,,ENST00000547594,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552484,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;NR2C1,non_coding_transcript_exon_variant,,ENST00000546416,;NR2C1,upstream_gene_variant,,ENST00000549617,;NR2C1,downstream_gene_variant,,ENST00000552791,;	1777	52	51	SUCCESS
TUBA3C	7278	.	GRCh37	13	19753559	19753559	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	70	344	0	ENST00000400113.3:c.148A>G	p.Asn50Asp	p.N50D	ENST00000400113	NM_006001.2	50	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS9284.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTTGAAGG	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01162	.	.	ENSP00000382982	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000400113	Transcript	.	.	ENSG00000198033	12408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.144)	.	tolerated_low_confidence(0.08)	.	TBA3C_HUMAN	TUBA3C	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3C,missense_variant,p.Asn50Asp,ENST00000400113,;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;	253	344	272	SUCCESS
RNF17	56163	.	GRCh37	13	25448375	25448375	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	34	0	ENST00000255324.5:c.4571T>A	p.Leu1524Gln	p.L1524Q	ENST00000255324	NM_031277.2	1524	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS9308.2	4571	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTGACAT	NONE	.	.	PROSITE_profiles:PS50304,hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,SMART_domains:SM00333,Superfamily_domains:SSF63748	.	.	ENSP00000255324	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,missense_variant,p.Leu1524Gln,ENST00000255324,;RNF17,missense_variant,p.Leu1482Gln,ENST00000381921,;RNF17,missense_variant,p.Leu534Gln,ENST00000339524,;RNF17,missense_variant,p.Leu848Gln,ENST00000418120,;	4623	34	25	SUCCESS
AMER2	219287	.	GRCh37	13	25743926	25743926	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775995001	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	54	348	0	ENST00000515384.1:c.1832G>C	p.Ser611Thr	p.S611T	ENST00000515384		611	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS53859.1	1832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCTAATA	NONE	.	.	hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237	.	.	ENSP00000426528	.	1/1	.	.	.	.	.	.	.	.	rs775995001	1/1	PASS	ENST00000515384	Transcript	.	.	ENSG00000165566	26360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.03)	.	AMER2_HUMAN	AMER2	HGNC	Q8N785_HUMAN	.	UPI0000231C76	SNV	AMER2,missense_variant,p.Ser611Thr,ENST00000515384,;AMER2,missense_variant,p.Ser492Thr,ENST00000357816,;AMER2,missense_variant,p.Ser492Thr,ENST00000381853,;AMER2-AS1,downstream_gene_variant,,ENST00000413501,;	2500	348	233	SUCCESS
KLF12	11278	.	GRCh37	13	74387348	74387348	+	synonymous_variant	Silent	SNP	G	G	T	rs747639320	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	34	205	0	ENST00000377669.2:c.747C>A	p.Thr249=	p.T249=	ENST00000377669	NM_007249.4	249	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9449.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAAGGTCAC	NONE	byFrequency	.	hmmpanther:PTHR23223:SF136,hmmpanther:PTHR23223	.	.	ENSP00000366897	.	4/7	.	.	.	.	.	.	.	.	rs747639320	4/7	PASS	ENST00000377669	Transcript	.	.	ENSG00000118922	6346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLF12_HUMAN	KLF12	HGNC	.	.	UPI000013D144	SNV	KLF12,synonymous_variant,p.%3D,ENST00000377666,;KLF12,synonymous_variant,p.%3D,ENST00000377669,;KLF12,non_coding_transcript_exon_variant,,ENST00000472022,;	774	205	155	SUCCESS
RTL1	388015	.	GRCh37	14	101350875	101350875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	14	110	0	ENST00000534062.1:c.251C>T	p.Pro84Leu	p.P84L	ENST00000534062	NM_001134888.2	84	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS53910.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTGGGCCA	BUFFER|p.E87K|c.259G>A|3	.	.	.	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious_low_confidence(0.01)	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,missense_variant,p.Pro84Leu,ENST00000534062,;MIR432,non_coding_transcript_exon_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	310	110	92	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414859	105414859	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777987807	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	150	0	ENST00000333244.5:c.6929A>G	p.Asp2310Gly	p.D2310G	ENST00000333244	NM_138420.2	2310	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS45177.1	6929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGTCCTTG	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs777987807	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Asp2310Gly,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7049	150	115	SUCCESS
ACTR10	55860	.	GRCh37	14	58690343	58690343	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372667907	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	60	0	ENST00000254286.4:c.638G>A	p.Arg213His	p.R213H	ENST00000254286	NM_018477.2	213	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS32090.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGTACTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11937:SF14,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	A:0.0002	ENSP00000254286	.	9/13	.	.	.	.	.	.	.	.	rs372667907	9/13	PASS	ENST00000254286	Transcript	.	.	ENSG00000131966	17372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	ARP10_HUMAN	ACTR10	HGNC	Q86SY7_HUMAN	.	UPI0000126067	SNV	ACTR10,missense_variant,p.Arg213His,ENST00000254286,;ACTR10,upstream_gene_variant,,ENST00000554642,;C14orf37,intron_variant,,ENST00000554218,;ACTR10,missense_variant,p.Arg213His,ENST00000554402,;ACTR10,missense_variant,p.Arg2His,ENST00000553907,;ACTR10,3_prime_UTR_variant,,ENST00000555229,;ACTR10,3_prime_UTR_variant,,ENST00000556748,;ACTR10,3_prime_UTR_variant,,ENST00000545307,;ACTR10,non_coding_transcript_exon_variant,,ENST00000556449,;ACTR10,non_coding_transcript_exon_variant,,ENST00000555965,;ACTR10,non_coding_transcript_exon_variant,,ENST00000557711,;ACTR10,non_coding_transcript_exon_variant,,ENST00000554790,;ACTR10,non_coding_transcript_exon_variant,,ENST00000556694,;ACTR10,non_coding_transcript_exon_variant,,ENST00000557583,;ACTR10,intron_variant,,ENST00000555337,;	718	60	58	SUCCESS
RTN1	6252	.	GRCh37	14	60074189	60074189	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	21	173	0	ENST00000267484.5:c.1787G>A	p.Arg596Gln	p.R596Q	ENST00000267484	NM_021136.2	596	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS9740.1	1787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCGCCAA	NONE	.	.	PROSITE_profiles:PS50845,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994,Pfam_domain:PF02453	.	.	ENSP00000267484	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,missense_variant,p.Arg13Gln,ENST00000395090,;RTN1,missense_variant,p.Arg28Gln,ENST00000342503,;RTN1,missense_variant,p.Arg596Gln,ENST00000267484,;RTN1,non_coding_transcript_exon_variant,,ENST00000557422,;RTN1,non_coding_transcript_exon_variant,,ENST00000474911,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;RTN1,upstream_gene_variant,,ENST00000490111,;RTN1,upstream_gene_variant,,ENST00000481205,;	2123	173	122	SUCCESS
RAD51B	5890	.	GRCh37	14	68944554	68944554	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	26	0	ENST00000487270.1:c.1036+9587T>C		p.*346*	ENST00000487270	NM_133509.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9789.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTAGCAG	NONE	.	.	.	.	.	ENSP00000419471	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000487270	Transcript	.	.	ENSG00000182185	9822	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RA51B_HUMAN	RAD51B	HGNC	G3V4W9_HUMAN,C9J5S9_HUMAN	.	UPI0000073AB0	SNV	RAD51B,3_prime_UTR_variant,,ENST00000471583,;RAD51B,intron_variant,,ENST00000488612,;RAD51B,intron_variant,,ENST00000390683,;RAD51B,intron_variant,,ENST00000487861,;RAD51B,intron_variant,,ENST00000487270,;RAD51B,non_coding_transcript_exon_variant,,ENST00000555782,;RAD51B,intron_variant,,ENST00000469165,;RAD51B,intron_variant,,ENST00000460526,;RAD51B,intron_variant,,ENST00000557045,;RAD51B,intron_variant,,ENST00000478014,;RAD51B,intron_variant,,ENST00000497460,;RAD51B,intron_variant,,ENST00000554244,;RAD51B,intron_variant,,ENST00000553595,;RAD51B,intron_variant,,ENST00000554183,;RAD51B,3_prime_UTR_variant,,ENST00000479335,;	.	26	31	SUCCESS
ADAM21P1	145241	.	GRCh37	14	70713231	70713231	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	103	0	ENST00000530196.1:n.1288T>C		p.*430*	ENST00000530196				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAAATCAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530196	Transcript	.	.	ENSG00000235812	19822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ADAM21P1	HGNC	.	.	.	SNV	ADAM21P1,non_coding_transcript_exon_variant,,ENST00000530196,;ADAM21P1,non_coding_transcript_exon_variant,,ENST00000529267,;	1288	103	94	SUCCESS
MAP3K9	4293	.	GRCh37	14	71206814	71206814	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752422781	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	232	49	304	0	ENST00000554752.2:c.1635C>G	p.Ser545Arg	p.S545R	ENST00000554752	NM_001284230.1	545	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS32112.1	1635	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGCTGTT	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF401,PIRSF_domain:PIRSF000556	.	.	ENSP00000451263	.	7/13	.	.	.	.	.	.	.	.	rs752422781	7/13	PASS	ENST00000555993	Transcript	.	.	ENSG00000006432	6861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.146)	.	tolerated(0.15)	.	M3K9_HUMAN	MAP3K9	HGNC	Q8NEB1_HUMAN,B4DSG3_HUMAN,B4DGF4_HUMAN,B3KRI5_HUMAN	.	UPI00001D7B5C	SNV	MAP3K9,missense_variant,p.Ser239Arg,ENST00000553414,;MAP3K9,missense_variant,p.Ser282Arg,ENST00000554146,;MAP3K9,missense_variant,p.Ser545Arg,ENST00000381250,;MAP3K9,missense_variant,p.Ser545Arg,ENST00000555993,;MAP3K9,missense_variant,p.Ser545Arg,ENST00000554752,;	1998	304	282	SUCCESS
PAPLN	89932	.	GRCh37	14	73721644	73721644	+	synonymous_variant	Silent	SNP	G	G	A	rs369082075	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	32	1	ENST00000554301.1:c.1545G>A	p.Pro515=	p.P515=	ENST00000554301		515	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS32114.1	1464	SOMATICSNIPER|VARSCANS	.	GGGCCGCCCAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20,PROSITE_profiles:PS50092	.	A:0	ENSP00000345395	.	13/26	.	.	.	.	.	.	.	.	rs369082075,COSM348976,COSM4052251,COSM4052252,COSM348977	13/26	PASS	ENST00000340738	Transcript	.	.	ENSG00000100767	19262	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	PPN_HUMAN	PAPLN	HGNC	B3KXI1_HUMAN	.	UPI0000D6242C	SNV	PAPLN,synonymous_variant,p.%3D,ENST00000555445,;PAPLN,synonymous_variant,p.%3D,ENST00000381166,;PAPLN,synonymous_variant,p.%3D,ENST00000427855,;PAPLN,synonymous_variant,p.%3D,ENST00000554301,;PAPLN,synonymous_variant,p.%3D,ENST00000340738,;PAPLN,synonymous_variant,p.%3D,ENST00000216658,;PAPLN,synonymous_variant,p.%3D,ENST00000555123,;PAPLN,downstream_gene_variant,,ENST00000555035,;	1566	33	33	SUCCESS
ISM2	145501	.	GRCh37	14	77948666	77948666	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs768822113	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	84	0	ENST00000342219.4:c.972C>T		p.X324_splice	ENST00000342219	NM_199296.2	324	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS9864.1	972	MUTECT|MUSE	.	TCACCGTAGCT	NONE	.	.	hmmpanther:PTHR10239:SF24,hmmpanther:PTHR10239	.	.	ENSP00000341490	.	4/7	.	.	.	.	.	.	.	.	rs768822113	4/7	PASS	ENST00000342219	Transcript	.	.	ENSG00000100593	23176	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ISM2_HUMAN	ISM2	HGNC	G3XAI3_HUMAN	.	UPI000019950C	SNV	ISM2,synonymous_variant,p.%3D,ENST00000429906,;ISM2,synonymous_variant,p.%3D,ENST00000412904,;ISM2,synonymous_variant,p.%3D,ENST00000393684,;ISM2,synonymous_variant,p.%3D,ENST00000342219,;ISM2,intron_variant,,ENST00000493585,;ISM2,downstream_gene_variant,,ENST00000554801,;ISM2,splice_region_variant,,ENST00000216481,;ISM2,splice_region_variant,,ENST00000487738,;ISM2,downstream_gene_variant,,ENST00000480979,;ISM2,downstream_gene_variant,,ENST00000471734,;ISM2,downstream_gene_variant,,ENST00000472744,;	1029	84	69	SUCCESS
SEL1L	6400	.	GRCh37	14	81955626	81955626	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	22	141	0	ENST00000336735.4:c.1365G>T	p.Met455Ile	p.M455I	ENST00000336735	NM_005065.5	455	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9876.1	1365	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCCATTCC	NONE	.	.	hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901	.	.	ENSP00000337053	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000336735	Transcript	.	.	ENSG00000071537	10717	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.285)	.	tolerated(0.18)	.	SE1L1_HUMAN	SEL1L	HGNC	.	.	UPI0000135746	SNV	SEL1L,missense_variant,p.Met455Ile,ENST00000336735,;SEL1L,non_coding_transcript_exon_variant,,ENST00000555923,;SEL1L,upstream_gene_variant,,ENST00000554293,;	1482	141	156	SUCCESS
EML5	161436	.	GRCh37	14	89202777	89202777	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	35	171	0	ENST00000380664.5:c.980A>T	p.Glu327Val	p.E327V	ENST00000380664		327	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS45148.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTCACCT	NONE	.	.	Superfamily_domains:SSF50978,Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	7/44	.	.	.	.	.	.	.	.	.	7/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Glu327Val,ENST00000352093,;EML5,missense_variant,p.Glu327Val,ENST00000554922,;EML5,missense_variant,p.Glu327Val,ENST00000380664,;	1229	171	170	SUCCESS
KCNK13	56659	.	GRCh37	14	90651207	90651207	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	23	152	0	ENST00000282146.4:c.1087C>T	p.Leu363=	p.L363=	ENST00000282146	NM_022054.3	363	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9889.1	1087	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCTGCAG	NONE	.	.	hmmpanther:PTHR11003:SF57,hmmpanther:PTHR11003,Prints_domain:PR01588	.	.	ENSP00000282146	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282146	Transcript	.	.	ENSG00000152315	6275	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNKD_HUMAN	KCNK13	HGNC	B5TJL8_HUMAN	.	UPI0000127A55	SNV	KCNK13,synonymous_variant,p.%3D,ENST00000282146,;	1528	152	148	SUCCESS
CCDC88C	440193	.	GRCh37	14	91883179	91883179	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	44	1	ENST00000389857.6:c.64A>G	p.Lys22Glu	p.K22E	ENST00000389857	NM_001080414.3	22	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS45151.1	64	MUTECT|VARSCANS	.	AGTTTTCACCT	NONE	.	.	hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31,Pfam_domain:PF05622,Superfamily_domains:0050601	.	.	ENSP00000374507	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,missense_variant,p.Lys22Glu,ENST00000553403,;CCDC88C,missense_variant,p.Lys22Glu,ENST00000389857,;CCDC88C,missense_variant,p.Lys14Glu,ENST00000389856,;RP11-895M11.3,upstream_gene_variant,,ENST00000557524,;CCDC88C,non_coding_transcript_exon_variant,,ENST00000554165,;CCDC88C,non_coding_transcript_exon_variant,,ENST00000554872,;CCDC88C,upstream_gene_variant,,ENST00000556767,;RP11-895M11.2,upstream_gene_variant,,ENST00000557756,;	151	45	60	SUCCESS
LRRK1	79705	.	GRCh37	15	101592136	101592136	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	125	0	ENST00000388948.3:c.3660T>A	p.Pro1220=	p.P1220=	ENST00000388948	NM_024652.3	1220	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42086.1	3660	MUTECT|MUSE	.	GTCCCTGAACT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000373600	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,synonymous_variant,p.%3D,ENST00000388948,;LRRK1,synonymous_variant,p.%3D,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;RP11-505E24.3,upstream_gene_variant,,ENST00000558979,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,upstream_gene_variant,,ENST00000526457,;	4019	125	100	SUCCESS
HERC2P3	283755	.	GRCh37	15	20657690	20657690	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs528953010	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	52	0	ENST00000428453.1:n.2269G>A		p.*757*	ENST00000428453				0	.	T:0.0008	.	T:0	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGCGCTGT	NONE	by1000G	.	.	T:0	.	.	T:0	16/27	.	.	.	.	.	.	.	.	rs528953010	16/27	PASS	ENST00000428453	Transcript	.	T:0.0002	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440774,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440441,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;HERC2P3,downstream_gene_variant,,ENST00000544900,;	2269	52	48	SUCCESS
HERC2P3	283755	.	GRCh37	15	20658921	20658921	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs540156243	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	19	0	ENST00000428453.1:n.1946C>T		p.*649*	ENST00000428453				0	.	A:0	.	A:0	.	A	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	ACATCGCATAC	NONE	byFrequency|by1000G	.	.	A:0	.	.	A:0	14/27	.	.	.	.	.	.	.	.	rs540156243	14/27	common_in_exac	ENST00000428453	Transcript	.	A:0.0020	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0102	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,intron_variant,,ENST00000437318,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,upstream_gene_variant,,ENST00000440441,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000429926,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1946	19	29	SUCCESS
HERC2P2	400322	.	GRCh37	15	23335653	23335653	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	19	137	0	ENST00000560464.1:n.488T>C		p.*163*	ENST00000560464				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAATGACT	NONE	.	.	.	.	.	.	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000560464	Transcript	.	.	ENSG00000140181	4870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HERC2P2	HGNC	.	.	.	SNV	HERC2P2,non_coding_transcript_exon_variant,,ENST00000560464,;HERC2P2,non_coding_transcript_exon_variant,,ENST00000559650,;HERC2P2,upstream_gene_variant,,ENST00000422607,;	488	137	157	SUCCESS
NPAP1	23742	.	GRCh37	15	24921553	24921553	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	76	0	ENST00000329468.2:c.539T>C	p.Leu180Pro	p.L180P	ENST00000329468	NM_018958.2	180	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS10015.1	539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTTAGCA	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	COSM699466	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.78)	.	tolerated(0.2)	1	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Leu180Pro,ENST00000329468,;	1013	76	90	SUCCESS
GABRB3	2562	.	GRCh37	15	26793135	26793135	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	32	158	0	ENST00000311550.5:c.1227A>G	p.Arg409=	p.R409=	ENST00000311550	NM_000814.5	409	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS10019.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTCGAGG	NONE	.	.	hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000308725	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000311550	Transcript	1	.	ENSG00000166206	4083	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRB3_HUMAN	GABRB3	HGNC	G3V5B4_HUMAN	.	UPI000012AFB0	SNV	GABRB3,synonymous_variant,p.%3D,ENST00000541819,;GABRB3,synonymous_variant,p.%3D,ENST00000311550,;GABRB3,synonymous_variant,p.%3D,ENST00000545868,;GABRB3,synonymous_variant,p.%3D,ENST00000299267,;GABRB3,synonymous_variant,p.%3D,ENST00000400188,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;	1339	158	161	SUCCESS
HERC2	8924	.	GRCh37	15	28443786	28443786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	70	407	1	ENST00000261609.7:c.7846G>T	p.Gly2616Cys	p.G2616C	ENST00000261609	NM_004667.5	2616	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS10021.1	7846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCCCCTT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Pfam_domain:PF11515,Gene3D:2.30.30.30,Superfamily_domains:SSF63748	.	.	ENSP00000261609	.	49/93	.	.	.	.	.	.	.	.	.	49/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Gly2616Cys,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	7955	408	373	SUCCESS
HERC2	8924	.	GRCh37	15	28443787	28443787	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	71	409	1	ENST00000261609.7:c.7845G>T	p.Gly2615=	p.G2615=	ENST00000261609	NM_004667.5	2615	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10021.1	7845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCCCCTTT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Pfam_domain:PF11515,Gene3D:2.30.30.30,Superfamily_domains:SSF63748	.	.	ENSP00000261609	.	49/93	.	.	.	.	.	.	.	.	.	49/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,synonymous_variant,p.%3D,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	7954	410	375	SUCCESS
CHRM5	1133	.	GRCh37	15	34356472	34356472	+	synonymous_variant	Silent	SNP	A	A	G	rs778538576	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	94	0	ENST00000383263.5:c.1554A>G	p.Lys518=	p.K518=	ENST00000383263	NM_012125.3	518	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS10031.1	1554	MUTECT|MUSE|VARSCANS	.	AAAAAAGTGGA	NONE	byFrequency	.	Prints_domain:PR00542,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF58	.	.	ENSP00000372750	.	3/3	.	.	.	.	.	.	.	.	rs778538576	3/3	PASS	ENST00000383263	Transcript	.	.	ENSG00000184984	1954	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACM5_HUMAN	CHRM5	HGNC	H0YKC0_HUMAN	.	UPI0000050412	SNV	CHRM5,synonymous_variant,p.%3D,ENST00000383263,;CHRM5,synonymous_variant,p.%3D,ENST00000557872,;CHRM5,downstream_gene_variant,,ENST00000560035,;	2224	94	97	SUCCESS
CASC5	0	.	GRCh37	15	40920293	40920293	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	103	0	ENST00000346991.5:c.5480A>G	p.Asp1827Gly	p.D1827G	ENST00000346991		1827	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS42023.1	5480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGATATAG	NONE	.	.	hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2	.	.	ENSP00000335463	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000346991	Transcript	1	.	ENSG00000137812	24054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.228)	.	tolerated(0.11)	.	CASC5_HUMAN	CASC5	HGNC	.	.	UPI0000E59BD3	SNV	CASC5,missense_variant,p.Asp8Gly,ENST00000532406,;CASC5,missense_variant,p.Asp1827Gly,ENST00000346991,;CASC5,missense_variant,p.Asp1801Gly,ENST00000399668,;CASC5,downstream_gene_variant,,ENST00000527044,;CASC5,missense_variant,p.Asp846Gly,ENST00000526913,;CASC5,intron_variant,,ENST00000534204,;CASC5,downstream_gene_variant,,ENST00000533001,;	5870	103	83	SUCCESS
SPINT1	6692	.	GRCh37	15	41137074	41137074	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770574048	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	75	0	ENST00000344051.4:c.322C>T	p.Arg108Cys	p.R108C	ENST00000344051		108	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS10067.1	322	RADIA|MUTECT|MUSE|VARSCANS	.	CCGACCGCGGG	NONE	.	.	PROSITE_profiles:PS50986,hmmpanther:PTHR10083:SF174,hmmpanther:PTHR10083,Pfam_domain:PF07502,SMART_domains:SM00765	.	.	ENSP00000342098	.	2/11	.	.	.	.	.	.	.	.	rs770574048	2/11	PASS	ENST00000344051	Transcript	.	.	ENSG00000166145	11246	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.738)	.	deleterious(0.03)	.	SPIT1_HUMAN	SPINT1	HGNC	H3BTQ8_HUMAN	.	UPI00001AE46F	SNV	SPINT1,missense_variant,p.Arg108Cys,ENST00000563656,;SPINT1,missense_variant,p.Arg108Cys,ENST00000562057,;SPINT1,missense_variant,p.Arg108Cys,ENST00000431806,;SPINT1,missense_variant,p.Arg170Cys,ENST00000568823,;SPINT1,missense_variant,p.Arg68Cys,ENST00000568580,;SPINT1,missense_variant,p.Arg108Cys,ENST00000344051,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;	556	75	60	SUCCESS
SORD	6652	.	GRCh37	15	45332630	45332630	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	308	47	352	1	ENST00000267814.9:c.91G>A	p.Gly31Ser	p.G31S	ENST00000267814	NM_003104.5	31	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS10116.1	91	RADIA|VARSCANS	.	AACCAGGCCCA	NONE	.	.	hmmpanther:PTHR11695:SF451,hmmpanther:PTHR11695,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000267814	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000267814	Transcript	.	.	ENSG00000140263	11184	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated(0.1)	.	DHSO_HUMAN	SORD	HGNC	.	.	UPI000013D771	SNV	SORD,missense_variant,p.Gly10Ser,ENST00000558580,;SORD,missense_variant,p.Gly31Ser,ENST00000267814,;RP11-109D20.1,downstream_gene_variant,,ENST00000560324,;SORD,missense_variant,p.Gly31Ser,ENST00000559230,;SORD,missense_variant,p.Gly31Ser,ENST00000558789,;	271	353	356	SUCCESS
FBN1	2200	.	GRCh37	15	48719788	48719788	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs397515848	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	11	114	0	ENST00000316623.5:c.7180C>T	p.Arg2394Ter	p.R2394*	ENST00000316623	NM_000138.4	2394	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS32232.1	7180	MUTECT|MUSE|VARSCANS	pathogenic	TCCTCGGCCAT	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000325527	.	58/66	.	.	.	.	.	.	.	.	rs397515848,CM993162	58/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,stop_gained,p.Arg2394Ter,ENST00000316623,;FBN1,synonymous_variant,p.%3D,ENST00000559133,;FBN1,downstream_gene_variant,,ENST00000537463,;FBN1,downstream_gene_variant,,ENST00000560720,;	7636	114	127	SUCCESS
DYX1C1	0	.	GRCh37	15	55783381	55783381	+	synonymous_variant	Silent	SNP	T	T	A	rs371052810	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	34	175	1	ENST00000321149.3:c.345A>T	p.Thr115=	p.T115=	ENST00000321149	NM_130810.3	115	acA/acT	0	C:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS10154.1	345	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTGTAGC	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF277	.	C:0	ENSP00000323275	.	4/10	.	.	.	.	.	.	.	.	rs371052810	4/10	PASS	ENST00000321149	Transcript	1	.	ENSG00000256061	21493	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYXC1_HUMAN	DYX1C1	HGNC	.	.	UPI000013E5B8	SNV	DYX1C1,synonymous_variant,p.%3D,ENST00000380679,;DYX1C1,synonymous_variant,p.%3D,ENST00000448430,;DYX1C1,synonymous_variant,p.%3D,ENST00000321149,;DYX1C1,synonymous_variant,p.%3D,ENST00000457155,;DYX1C1,synonymous_variant,p.%3D,ENST00000348518,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000568310,;DYX1C1,synonymous_variant,p.%3D,ENST00000524160,;DYX1C1,3_prime_UTR_variant,,ENST00000522437,;DYX1C1,non_coding_transcript_exon_variant,,ENST00000519017,;	713	176	205	SUCCESS
RFX7	64864	.	GRCh37	15	56394441	56394441	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	45	0	ENST00000559447.2:c.238A>G	p.Ser80Gly	p.S80G	ENST00000559447		80	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	.	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTGTAGC	NONE	.	.	PROSITE_profiles:PS51526,hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619,Gene3D:1.10.10.10,Pfam_domain:PF02257,Superfamily_domains:SSF46785	.	.	ENSP00000397644	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	deleterious(0.03)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Ser177Gly,ENST00000423270,;RFX7,missense_variant,p.Ser80Gly,ENST00000559447,;RFX7,missense_variant,p.Ser177Gly,ENST00000317318,;RFX7,missense_variant,p.Ser80Gly,ENST00000422057,;RFX7,downstream_gene_variant,,ENST00000560792,;RFX7,missense_variant,p.Ser80Gly,ENST00000559847,;	529	45	42	SUCCESS
VPS13C	54832	.	GRCh37	15	62219327	62219327	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	15	127	0	ENST00000261517.5:c.6479C>T	p.Pro2160Leu	p.P2160L	ENST00000261517	NM_020821.2	2160	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32257.1	6479	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGGGCAA	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	52/85	.	.	.	.	.	.	.	.	.	52/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.611)	.	deleterious(0)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Pro2160Leu,ENST00000261517,;VPS13C,missense_variant,p.Pro2160Leu,ENST00000395896,;VPS13C,missense_variant,p.Pro2117Leu,ENST00000249837,;VPS13C,missense_variant,p.Pro2117Leu,ENST00000395898,;	6553	127	108	SUCCESS
DENND4A	10260	.	GRCh37	15	65959791	65959791	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	72	0	ENST00000431932.2:c.5105C>G	p.Ser1702Ter	p.S1702*	ENST00000431932	NM_005848.3	1702	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS53949.1	5234	MUTECT|MUSE	.	CCTTTGAATAC	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,stop_gained,p.Ser1745Ter,ENST00000443035,;DENND4A,stop_gained,p.Ser1702Ter,ENST00000431932,;DENND4A,upstream_gene_variant,,ENST00000562540,;	5450	72	61	SUCCESS
HEXA	3073	.	GRCh37	15	72643535	72643535	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs121907976	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	22	99	0	ENST00000268097.5:c.611A>T	p.His204Leu	p.H204L	ENST00000268097	NM_000520.4	204	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS10243.1	611	RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CCAGATGCCAG	NONE	.	.	Prints_domain:PR00738,Superfamily_domains:SSF51445,PIRSF_domain:PIRSF001093,Gene3D:3.20.20.80,Pfam_domain:PF00728,hmmpanther:PTHR22600,hmmpanther:PTHR22600:SF7	.	.	ENSP00000268097	.	6/14	.	.	.	.	.	.	.	.	CM930394,rs121907976	6/14	PASS	ENST00000268097	Transcript	1	.	ENSG00000213614	4878	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(1)	.	deleterious(0)	.	HEXA_HUMAN	HEXA	HGNC	H3BS10_HUMAN,G3XL83_HUMAN	.	UPI000013D798	SNV	HEXA,missense_variant,p.His215Leu,ENST00000566304,;HEXA,missense_variant,p.His204Leu,ENST00000268097,;HEXA,missense_variant,p.His31Leu,ENST00000429918,;HEXA,missense_variant,p.His204Leu,ENST00000567159,;HEXA,missense_variant,p.His12Leu,ENST00000457859,;RP11-106M3.3,non_coding_transcript_exon_variant,,ENST00000570175,;HEXA,non_coding_transcript_exon_variant,,ENST00000569509,;RP11-106M3.2,intron_variant,,ENST00000379915,;HEXA,missense_variant,p.His162Leu,ENST00000567027,;HEXA,missense_variant,p.His204Leu,ENST00000569410,;HEXA,3_prime_UTR_variant,,ENST00000563762,;HEXA,3_prime_UTR_variant,,ENST00000566672,;HEXA,3_prime_UTR_variant,,ENST00000567411,;HEXA,3_prime_UTR_variant,,ENST00000568260,;HEXA,non_coding_transcript_exon_variant,,ENST00000568777,;HEXA,downstream_gene_variant,,ENST00000563908,;	1115	99	153	SUCCESS
KIF7	374654	.	GRCh37	15	90193163	90193163	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	47	0	ENST00000394412.3:c.338T>C	p.Leu113Pro	p.L113P	ENST00000394412	NM_198525.2	113	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS32325.2	338	MUTECT|MUSE	.	CCTCAAGGAGG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF342,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000377934	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000394412	Transcript	1	.	ENSG00000166813	30497	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.173)	.	tolerated(0.29)	.	KIF7_HUMAN	KIF7	HGNC	B7ZKY4_HUMAN	.	UPI00015F81C7	SNV	KIF7,missense_variant,p.Leu113Pro,ENST00000394412,;KIF7,synonymous_variant,p.%3D,ENST00000445906,;	415	47	38	SUCCESS
IQGAP1	8826	.	GRCh37	15	91043276	91043276	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	67	0	ENST00000268182.5:c.4910A>C	p.Asp1637Ala	p.D1637A	ENST00000268182	NM_003870.3	1637	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS10362.1	4910	MUTECT|MUSE	.	ATTTGATAGAG	NONE	.	.	Superfamily_domains:0050767,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15	.	.	ENSP00000268182	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000268182	Transcript	.	.	ENSG00000140575	6110	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.413)	.	deleterious(0)	.	IQGA1_HUMAN	IQGAP1	HGNC	H0YKA5_HUMAN	.	UPI000012D863	SNV	IQGAP1,missense_variant,p.Asp1065Ala,ENST00000560738,;IQGAP1,missense_variant,p.Asp1637Ala,ENST00000268182,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561086,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000558957,;	5034	67	58	SUCCESS
CHD2	1106	.	GRCh37	15	93486285	93486285	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762668182	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	32	0	ENST00000394196.4:c.1039G>A	p.Glu347Lys	p.E347K	ENST00000394196	NM_001271.3	347	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10374.2	1039	MUTECT|MUSE	.	AGGACGAAATC	NONE	.	.	PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Gene3D:2.40.50.40,Superfamily_domains:SSF54160	.	.	ENSP00000377747	.	9/39	.	.	.	.	.	.	.	.	rs762668182,COSM966698,COSM966697	9/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.409)	.	deleterious(0.01)	0,1,1	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Glu347Lys,ENST00000557381,;CHD2,missense_variant,p.Glu347Lys,ENST00000420239,;CHD2,missense_variant,p.Glu360Lys,ENST00000536619,;CHD2,missense_variant,p.Glu347Lys,ENST00000394196,;CHD2,non_coding_transcript_exon_variant,,ENST00000555753,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000309818,;CHD2,non_coding_transcript_exon_variant,,ENST00000556270,;CHD2,non_coding_transcript_exon_variant,,ENST00000553323,;	2107	32	31	SUCCESS
IGF1R	3480	.	GRCh37	15	99451929	99451929	+	synonymous_variant	Silent	SNP	C	C	T	rs542546475	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	14	170	0	ENST00000268035.6:c.1263C>T	p.Tyr421=	p.Y421=	ENST00000268035	NM_000875.3	421	taC/taT	0	.	T:0	.	T:0.0014	.	T	Y	protein_coding	YES	CCDS10378.1	1263	MUTECT|MUSE|VARSCANS	.	TTCTACGTCCT	NONE	by1000G	.	Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Pfam_domain:PF01030,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416	T:0	.	ENSP00000268035	T:0	6/21	.	.	.	.	.	.	.	.	rs542546475,COSM198985	6/21	PASS	ENST00000268035	Transcript	1	T:0.0002	ENSG00000140443	5465	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0	.	0,1	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,synonymous_variant,p.%3D,ENST00000558762,;IGF1R,synonymous_variant,p.%3D,ENST00000558898,;IGF1R,synonymous_variant,p.%3D,ENST00000268035,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559582,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000560144,;	1874	170	175	SUCCESS
PRKCB	5579	.	GRCh37	16	24202416	24202416	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	28	112	0	ENST00000321728.7:c.1728del	p.Met576IlefsTer66	p.M576Ifs*66	ENST00000321728	NM_212535.2	576	atG/at	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS10619.1	1728	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGATGACCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000305355	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000303531	Transcript	.	.	ENSG00000166501	9395	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KPCB_HUMAN	PRKCB	HGNC	I3L1Z0_HUMAN	.	UPI000002ACF9	deletion	PRKCB,frameshift_variant,p.Met15IlefsTer47,ENST00000466124,;PRKCB,frameshift_variant,p.Met576IlefsTer65,ENST00000303531,;PRKCB,frameshift_variant,p.Met576IlefsTer66,ENST00000321728,;	1880	112	124	SUCCESS
GTF3C1	2975	.	GRCh37	16	27506737	27506737	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	25	129	1	ENST00000356183.4:c.2427C>T	p.Tyr809=	p.Y809=	ENST00000356183	NM_001520.3	809	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS32414.1	2427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGGTACCA	NONE	.	.	hmmpanther:PTHR15180	.	.	ENSP00000348510	.	15/37	.	.	.	.	.	.	.	.	.	15/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,synonymous_variant,p.%3D,ENST00000561623,;GTF3C1,synonymous_variant,p.%3D,ENST00000356183,;GTF3C1,intron_variant,,ENST00000569653,;	2443	130	120	SUCCESS
ITGAX	3687	.	GRCh37	16	31390892	31390892	+	synonymous_variant	Silent	SNP	C	C	T	rs985017935	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	23	136	1	ENST00000268296.4:c.2793C>T	p.His931=	p.H931=	ENST00000268296	NM_000887.3	931	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS10711.1	2793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACGAACA	CODON|p.E932K|c.2794G>A|3	.	.	Pfam_domain:PF08441,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220	.	.	ENSP00000268296	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000268296	Transcript	.	.	ENSG00000140678	6152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAX_HUMAN	ITGAX	HGNC	B4DDX0_HUMAN	.	UPI00001C0366	SNV	ITGAX,synonymous_variant,p.%3D,ENST00000562522,;ITGAX,synonymous_variant,p.%3D,ENST00000268296,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	2914	137	110	SUCCESS
NUP93	9688	.	GRCh37	16	56872968	56872968	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	47	186	0	ENST00000308159.5:c.2123A>T	p.Asp708Val	p.D708V	ENST00000308159	NM_014669.4	708	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS10769.1	2123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGATAGAG	NONE	.	.	hmmpanther:PTHR11225,Pfam_domain:PF04097	.	.	ENSP00000310668	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000308159	Transcript	.	.	ENSG00000102900	28958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.27)	.	NUP93_HUMAN	NUP93	HGNC	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN	.	UPI0000044E0C	SNV	NUP93,missense_variant,p.Asp70Val,ENST00000563486,;NUP93,missense_variant,p.Asp16Val,ENST00000569322,;NUP93,missense_variant,p.Asp585Val,ENST00000564887,;NUP93,missense_variant,p.Asp585Val,ENST00000542526,;NUP93,missense_variant,p.Asp106Val,ENST00000563405,;NUP93,missense_variant,p.Asp708Val,ENST00000569842,;NUP93,missense_variant,p.Asp708Val,ENST00000308159,;NUP93,upstream_gene_variant,,ENST00000563465,;NUP93,upstream_gene_variant,,ENST00000564278,;	2244	186	204	SUCCESS
ZNF821	55565	.	GRCh37	16	71913830	71913830	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	29	155	1	ENST00000425432.1:c.20C>A	p.Thr7Lys	p.T7K	ENST00000425432	NM_001201552.1	7	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS56006.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGTCTGT	NONE	.	.	hmmpanther:PTHR24404:SF1,hmmpanther:PTHR24404	.	.	ENSP00000398089	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000425432	Transcript	.	.	ENSG00000102984	28043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious_low_confidence(0.01)	.	ZN821_HUMAN	ZNF821	HGNC	H3BS68_HUMAN	.	UPI0000EE78C4	SNV	ZNF821,missense_variant,p.Thr7Lys,ENST00000568322,;ZNF821,missense_variant,p.Thr7Lys,ENST00000562797,;ZNF821,missense_variant,p.Thr7Lys,ENST00000425432,;ZNF821,missense_variant,p.Thr7Lys,ENST00000565516,;ZNF821,missense_variant,p.Thr7Lys,ENST00000313565,;ZNF821,missense_variant,p.Thr7Lys,ENST00000568666,;ZNF821,missense_variant,p.Thr7Lys,ENST00000565601,;ZNF821,missense_variant,p.Thr7Lys,ENST00000446827,;ZNF821,missense_variant,p.Thr7Lys,ENST00000564134,;ZNF821,missense_variant,p.Thr7Lys,ENST00000565843,;IST1,intron_variant,,ENST00000568581,;RP11-498D10.3,downstream_gene_variant,,ENST00000561979,;ZNF821,non_coding_transcript_exon_variant,,ENST00000564943,;ATXN1L,intron_variant,,ENST00000569119,;ZNF821,downstream_gene_variant,,ENST00000561700,;ZNF821,missense_variant,p.Thr7Lys,ENST00000568961,;ZNF821,missense_variant,p.Thr7Lys,ENST00000563878,;ZNF821,missense_variant,p.Thr7Lys,ENST00000562808,;ZNF821,missense_variant,p.Thr7Lys,ENST00000566987,;ZNF821,missense_variant,p.Thr7Lys,ENST00000562985,;ZNF821,missense_variant,p.Thr7Lys,ENST00000563827,;ZNF821,non_coding_transcript_exon_variant,,ENST00000569186,;ZNF821,non_coding_transcript_exon_variant,,ENST00000562677,;	400	157	152	SUCCESS
MLKL	197259	.	GRCh37	16	74729411	74729411	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	31	213	1	ENST00000308807.7:c.245G>A	p.Arg82Lys	p.R82K	ENST00000308807	NM_152649.2	82	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS32487.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCTATTG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000308351	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000308807	Transcript	.	.	ENSG00000168404	26617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	MLKL_HUMAN	MLKL	HGNC	I3L4Z5_HUMAN,I3L2T9_HUMAN	.	UPI000004073C	SNV	MLKL,missense_variant,p.Arg82Lys,ENST00000573267,;MLKL,missense_variant,p.Arg82Lys,ENST00000308807,;MLKL,missense_variant,p.Arg82Lys,ENST00000306247,;MLKL,missense_variant,p.Arg62Lys,ENST00000575686,;MLKL,upstream_gene_variant,,ENST00000571303,;	709	214	173	SUCCESS
CNTNAP4	85445	.	GRCh37	16	76513378	76513378	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1232107021	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	21	174	0	ENST00000478060.1:c.1606A>G	p.Ile536Val	p.I536V	ENST00000478060	NM_138994.3	536	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS10924.2	1606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATATAGAT	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560,Gene3D:3.90.215.10,Superfamily_domains:SSF56496	.	.	ENSP00000418741	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000478060	Transcript	.	.	ENSG00000152910	18747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.15)	.	CNTP4_HUMAN	CNTNAP4	HGNC	H3BPC8_HUMAN	.	UPI000059D3C6	SNV	CNTNAP4,missense_variant,p.Ile536Val,ENST00000478060,;CNTNAP4,missense_variant,p.Ile560Val,ENST00000377504,;CNTNAP4,missense_variant,p.Ile608Val,ENST00000307431,;CNTNAP4,missense_variant,p.Ile612Val,ENST00000476707,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	1606	174	148	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77398168	77398168	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1453207988	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	45	210	0	ENST00000282849.5:c.889A>G	p.Thr297Ala	p.T297A	ENST00000282849	NM_199355.2	297	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10926.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGTTTCCA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000282849	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000282849	Transcript	.	.	ENSG00000140873	17110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,missense_variant,p.Thr297Ala,ENST00000282849,;ADAMTS18,downstream_gene_variant,,ENST00000562345,;ADAMTS18,downstream_gene_variant,,ENST00000564369,;ADAMTS18,downstream_gene_variant,,ENST00000567121,;ADAMTS18,3_prime_UTR_variant,,ENST00000449265,;ADAMTS18,downstream_gene_variant,,ENST00000569309,;ADAMTS18,downstream_gene_variant,,ENST00000567914,;	1308	210	198	SUCCESS
VAT1L	57687	.	GRCh37	16	77859180	77859180	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	40	265	0	ENST00000302536.2:c.401C>T	p.Ala134Val	p.A134V	ENST00000302536	NM_020927.1	134	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32492.1	401	RADIA|MUTECT|MUSE|VARSCANS	.	CAATGCCTGGG	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF442,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000303129	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000302536	Transcript	.	.	ENSG00000171724	29315	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	tolerated(0.1)	.	VAT1L_HUMAN	VAT1L	HGNC	Q8NDE0_HUMAN	.	UPI00000741CE	SNV	VAT1L,missense_variant,p.Ala134Val,ENST00000302536,;	554	265	226	SUCCESS
ZC3H18	124245	.	GRCh37	16	88643755	88643755	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs757049255	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	77	0	ENST00000301011.5:c.224A>C	p.Glu75Ala	p.E75A	ENST00000301011	NM_144604.3	75	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS10967.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGAGCCTA	NONE	.	.	hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10	.	.	ENSP00000301011	.	2/18	.	.	.	.	.	.	.	.	rs757049255	2/18	PASS	ENST00000301011	Transcript	.	.	ENSG00000158545	25091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	ZCH18_HUMAN	ZC3H18	HGNC	H3BRH3_HUMAN,B3KRL4_HUMAN	.	UPI00001FF676	SNV	ZC3H18,missense_variant,p.Glu75Ala,ENST00000452588,;ZC3H18,missense_variant,p.Glu75Ala,ENST00000301011,;ZC3H18,missense_variant,p.Glu75Ala,ENST00000569435,;	424	77	43	SUCCESS
MYOCD	93649	.	GRCh37	17	12666558	12666558	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	113	144	0	ENST00000343344.4:c.2414A>G	p.Glu805Gly	p.E805G	ENST00000343344		805	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS54091.1	2558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGAGCATC	NONE	.	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.5)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Glu805Gly,ENST00000343344,;MYOCD,missense_variant,p.Glu515Gly,ENST00000443061,;MYOCD,missense_variant,p.Glu853Gly,ENST00000425538,;RP11-1090M7.1,non_coding_transcript_exon_variant,,ENST00000584772,;MYOCD,downstream_gene_variant,,ENST00000395988,;	2758	144	176	SUCCESS
ADORA2B	136	.	GRCh37	17	15878262	15878262	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1203760263	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	100	178	1	ENST00000304222.2:c.605A>G	p.Tyr202Cys	p.Y202C	ENST00000304222	NM_000676.2	202	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11173.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTACATTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF18,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304501	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304222	Transcript	.	.	ENSG00000170425	264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	AA2BR_HUMAN	ADORA2B	HGNC	Q2L7J7_HUMAN	.	UPI00000503E3	SNV	ADORA2B,missense_variant,p.Tyr202Cys,ENST00000304222,;ZSWIM7,downstream_gene_variant,,ENST00000486655,;ZSWIM7,downstream_gene_variant,,ENST00000399277,;ZSWIM7,downstream_gene_variant,,ENST00000472495,;ZSWIM7,downstream_gene_variant,,ENST00000475498,;ZSWIM7,downstream_gene_variant,,ENST00000497434,;ZSWIM7,downstream_gene_variant,,ENST00000497719,;ZSWIM7,downstream_gene_variant,,ENST00000495825,;ZSWIM7,downstream_gene_variant,,ENST00000399280,;ADORA2B,non_coding_transcript_exon_variant,,ENST00000582124,;ZSWIM7,downstream_gene_variant,,ENST00000491631,;ZSWIM7,downstream_gene_variant,,ENST00000585208,;ZSWIM7,downstream_gene_variant,,ENST00000579955,;ZSWIM7,downstream_gene_variant,,ENST00000476496,;ZSWIM7,downstream_gene_variant,,ENST00000486706,;ZSWIM7,downstream_gene_variant,,ENST00000460252,;ZSWIM7,downstream_gene_variant,,ENST00000474716,;ZSWIM7,downstream_gene_variant,,ENST00000490395,;ZSWIM7,downstream_gene_variant,,ENST00000460315,;ZSWIM7,downstream_gene_variant,,ENST00000584519,;	937	179	158	SUCCESS
LRRC37A11P	342666	.	GRCh37	17	37186316	37186316	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	15	0	ENST00000579258.2:n.1885C>T		p.*629*	ENST00000579258				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCCACCCA	NONE	.	2953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000582518	Transcript	.	.	ENSG00000266013	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2206N4.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2206N4.2,upstream_gene_variant,,ENST00000582518,;LRRC37A11P,non_coding_transcript_exon_variant,,ENST00000425901,;LRRC37A11P,non_coding_transcript_exon_variant,,ENST00000579258,;CTD-2206N4.1,downstream_gene_variant,,ENST00000584401,;	.	15	15	SUCCESS
ARL5C	390790	.	GRCh37	17	37321340	37321340	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	14	139	0	ENST00000269586.7:c.99C>T	p.Leu33=	p.L33=	ENST00000269586	NM_001143968.1	33	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45664.1	99	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTAGAGAAT	NONE	.	.	Prints_domain:PR00328,Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Gene3D:3.40.50.300,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF148,PROSITE_profiles:PS51417	.	.	ENSP00000387615	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000444555	Transcript	.	.	ENSG00000141748	31111	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARL5C_HUMAN	ARL5C	HGNC	.	.	UPI00001600CC	SNV	ARL5C,synonymous_variant,p.%3D,ENST00000444555,;ARL5C,synonymous_variant,p.%3D,ENST00000269586,;ARL5C,non_coding_transcript_exon_variant,,ENST00000583123,;ARL5C,non_coding_transcript_exon_variant,,ENST00000581554,;ARL5C,non_coding_transcript_exon_variant,,ENST00000581255,;ARL5C,upstream_gene_variant,,ENST00000578912,;	439	139	132	SUCCESS
CCR7	1236	.	GRCh37	17	38711491	38711491	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	26	130	0	ENST00000246657.2:c.640A>G	p.Thr214Ala	p.T214A	ENST00000246657	NM_001838.3	214	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11369.1	640	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTGATGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF29,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00641	.	.	ENSP00000246657	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000246657	Transcript	.	.	ENSG00000126353	1608	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.44)	.	CCR7_HUMAN	CCR7	HGNC	J3KTN5_HUMAN,J3KSS9_HUMAN,A0N0Q0_HUMAN	.	UPI0000001C2F	SNV	CCR7,missense_variant,p.Thr214Ala,ENST00000246657,;CCR7,missense_variant,p.Thr151Ala,ENST00000578085,;CCR7,missense_variant,p.Thr208Ala,ENST00000579344,;	703	130	193	SUCCESS
KRT27	342574	.	GRCh37	17	38938637	38938637	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1323211995	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	11	113	0	ENST00000301656.3:c.109G>A	p.Gly37Ser	p.G37S	ENST00000301656	NM_181537.3	37	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS11375.1	109	MUTECT|MUSE|VARSCANS	.	CACACCGCATG	NONE	.	.	hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239	.	.	ENSP00000301656	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000301656	Transcript	.	.	ENSG00000171446	30841	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.26)	.	K1C27_HUMAN	KRT27	HGNC	.	.	UPI0000200C91	SNV	KRT27,missense_variant,p.Gly37Ser,ENST00000301656,;KRT27,upstream_gene_variant,,ENST00000540723,;	150	113	134	SUCCESS
PELP1	27043	.	GRCh37	17	4576104	4576104	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770325846	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	72	0	ENST00000574876.1:c.2182G>A	p.Glu728Lys	p.E728K	ENST00000574876		728	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	.	2182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTCAGGGC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429,Prints_domain:PR01217	.	.	ENSP00000461625	.	16/17	.	.	.	.	.	.	.	.	rs770325846	16/17	PASS	ENST00000574876	Transcript	.	.	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Glu638Lys,ENST00000269230,;PELP1,missense_variant,p.Glu581Lys,ENST00000436683,;PELP1,missense_variant,p.Glu728Lys,ENST00000574876,;PELP1,missense_variant,p.Glu872Lys,ENST00000301396,;PELP1,missense_variant,p.Glu778Lys,ENST00000572293,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;PELP1,downstream_gene_variant,,ENST00000570571,;AC091153.4,upstream_gene_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,downstream_gene_variant,,ENST00000575534,;PELP1,downstream_gene_variant,,ENST00000573506,;PELP1,downstream_gene_variant,,ENST00000573242,;	2200	72	60	SUCCESS
PELP1	27043	.	GRCh37	17	4576404	4576404	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	73	0	ENST00000574876.1:c.1882G>A	p.Ala628Thr	p.A628T	ENST00000574876		628	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCACAGG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429,Pfam_domain:PF08166	.	.	ENSP00000461625	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000574876	Transcript	.	.	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Ala540Thr,ENST00000269230,;PELP1,missense_variant,p.Ala481Thr,ENST00000436683,;PELP1,missense_variant,p.Ala628Thr,ENST00000574876,;PELP1,missense_variant,p.Ala772Thr,ENST00000301396,;PELP1,missense_variant,p.Ala678Thr,ENST00000572293,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;PELP1,downstream_gene_variant,,ENST00000570571,;AC091153.4,upstream_gene_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,non_coding_transcript_exon_variant,,ENST00000573242,;PELP1,downstream_gene_variant,,ENST00000575534,;PELP1,downstream_gene_variant,,ENST00000573506,;	1900	73	64	SUCCESS
GP1BA	2811	.	GRCh37	17	4837033	4837033	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	55	96	0	ENST00000329125.5:c.1134C>A	p.Ser378=	p.S378=	ENST00000329125	NM_000173.5	378	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54068.1	1134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCACTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24369:SF61,hmmpanther:PTHR24369,Prints_domain:PR01217	.	.	ENSP00000329380	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329125	Transcript	.	.	ENSG00000185245	4439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP1BA_HUMAN	GP1BA	HGNC	A5CKE2_HUMAN,E7ES66_HUMAN,E5FY30_HUMAN,E0D854_HUMAN,E0D852_HUMAN	.	UPI0001CB792B	SNV	GP1BA,synonymous_variant,p.%3D,ENST00000329125,;SLC25A11,downstream_gene_variant,,ENST00000576951,;SLC25A11,downstream_gene_variant,,ENST00000225665,;SLC25A11,downstream_gene_variant,,ENST00000544061,;SLC25A11,downstream_gene_variant,,ENST00000570543,;SLC25A11,downstream_gene_variant,,ENST00000574710,;	1209	96	118	SUCCESS
ACE	1636	.	GRCh37	17	61573828	61573828	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	181	308	1	ENST00000290866.4:c.3454C>T	p.Leu1152=	p.L1152=	ENST00000290866	NM_000789.3	1152	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11637.1	3454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCTGCAC	NONE	.	.	hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	.	.	ENSP00000290866	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000290866	Transcript	.	.	ENSG00000159640	2707	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACE_HUMAN	ACE	HGNC	Q3KRI5_HUMAN,D3DU13_HUMAN	.	UPI000002B8AD	SNV	ACE,synonymous_variant,p.%3D,ENST00000490216,;ACE,synonymous_variant,p.%3D,ENST00000290866,;ACE,synonymous_variant,p.%3D,ENST00000290863,;ACE,synonymous_variant,p.%3D,ENST00000579409,;ACE,intron_variant,,ENST00000428043,;ACE,intron_variant,,ENST00000413513,;ACE,intron_variant,,ENST00000421982,;ACE,downstream_gene_variant,,ENST00000582761,;ACE,non_coding_transcript_exon_variant,,ENST00000577418,;ACE,synonymous_variant,p.%3D,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,non_coding_transcript_exon_variant,,ENST00000582244,;ACE,intron_variant,,ENST00000578839,;ACE,downstream_gene_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000578679,;	3478	309	295	SUCCESS
KPNA2	3838	.	GRCh37	17	66040550	66040550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	26	169	0	ENST00000330459.3:c.1278G>T	p.Met426Ile	p.M426I	ENST00000330459	NM_002266.2	426	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS32713.1	1278	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGAACCT	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316:SF12,hmmpanther:PTHR23316	.	.	ENSP00000438483	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000537025	Transcript	.	.	ENSG00000182481	6395	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.32)	.	IMA1_HUMAN	KPNA2	HGNC	J3QLL0_HUMAN,J3KS65_HUMAN	.	UPI000012D5F6	SNV	KPNA2,missense_variant,p.Met426Ile,ENST00000537025,;KPNA2,missense_variant,p.Met426Ile,ENST00000330459,;KPNA2,downstream_gene_variant,,ENST00000579754,;KPNA2,downstream_gene_variant,,ENST00000584026,;KPNA2,upstream_gene_variant,,ENST00000582898,;KPNA2,downstream_gene_variant,,ENST00000583392,;KPNA2,downstream_gene_variant,,ENST00000583269,;	1898	169	219	SUCCESS
ABCA9	10350	.	GRCh37	17	67031425	67031425	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	245	34	248	0	ENST00000340001.4:c.1090C>T	p.Leu364Phe	p.L364F	ENST00000340001	NM_080283.3	364	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11681.1	1090	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGACACA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF12698,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	.	.	ENSP00000342216	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.12)	.	tolerated(0.24)	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,missense_variant,p.Leu364Phe,ENST00000370732,;ABCA9,missense_variant,p.Leu364Phe,ENST00000453985,;ABCA9,missense_variant,p.Leu364Phe,ENST00000340001,;ABCA9,non_coding_transcript_exon_variant,,ENST00000461623,;	1302	249	279	SUCCESS
KCNJ2	3759	.	GRCh37	17	68171825	68171825	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	19	96	0	ENST00000243457.3:c.645C>T	p.Gly215=	p.G215=	ENST00000243457	NM_000891.2	215	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS11688.1	645	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCAATCT	NONE	.	.	hmmpanther:PTHR11767:SF43,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,synonymous_variant,p.%3D,ENST00000535240,;KCNJ2,synonymous_variant,p.%3D,ENST00000243457,;	1028	96	133	SUCCESS
DNAI2	64446	.	GRCh37	17	72285791	72285791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	81	85	0	ENST00000311014.6:c.526A>G	p.Arg176Gly	p.R176G	ENST00000311014		176	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS11697.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAGGAAG	NONE	.	.	hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000400252	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000446837	Transcript	.	.	ENSG00000171595	18744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.15)	.	DNAI2_HUMAN	DNAI2	HGNC	.	.	UPI000013EC1D	SNV	DNAI2,missense_variant,p.Arg33Gly,ENST00000307504,;DNAI2,missense_variant,p.Arg176Gly,ENST00000446837,;DNAI2,missense_variant,p.Arg176Gly,ENST00000582036,;DNAI2,missense_variant,p.Arg233Gly,ENST00000579490,;DNAI2,missense_variant,p.Arg176Gly,ENST00000311014,;DNAI2,missense_variant,p.Gln135Arg,ENST00000579055,;	832	85	121	SUCCESS
ST6GALNAC2	10610	.	GRCh37	17	74569415	74569415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	50	0	ENST00000225276.5:c.392G>A	p.Gly131Asp	p.G131D	ENST00000225276	NM_006456.2	131	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11747.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCCGTTC	NONE	.	.	hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF41,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000225276	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000225276	Transcript	.	.	ENSG00000070731	10867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	.	.	SIA7B_HUMAN	ST6GALNAC2	HGNC	.	.	UPI000000D98B	SNV	ST6GALNAC2,missense_variant,p.Gly6Asp,ENST00000588920,;ST6GALNAC2,missense_variant,p.Gly131Asp,ENST00000225276,;RP11-666A8.9,downstream_gene_variant,,ENST00000588104,;ST6GALNAC2,non_coding_transcript_exon_variant,,ENST00000586520,;ST6GALNAC2,intron_variant,,ENST00000588005,;ST6GALNAC2,3_prime_UTR_variant,,ENST00000588120,;ST6GALNAC2,downstream_gene_variant,,ENST00000585736,;ST6GALNAC2,upstream_gene_variant,,ENST00000589997,;ST6GALNAC2,upstream_gene_variant,,ENST00000585390,;ST6GALNAC2,upstream_gene_variant,,ENST00000592979,;ST6GALNAC2,downstream_gene_variant,,ENST00000592508,;	712	50	43	SUCCESS
MFSD11	79157	.	GRCh37	17	74774280	74774280	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	27	181	0	ENST00000336509.4:c.1196C>A	p.Ala399Glu	p.A399E	ENST00000336509	NM_001242533.1	399	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS11750.1	1196	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGCAGCCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23294,hmmpanther:PTHR23294:SF7,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000464932	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000588460	Transcript	.	.	ENSG00000092931	25458	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.831)	.	deleterious(0)	.	MFS11_HUMAN	MFSD11	HGNC	K7ESK9_HUMAN,K7ELU3_HUMAN	.	UPI0000073F31	SNV	MFSD11,missense_variant,p.Ala399Glu,ENST00000588460,;MFSD11,missense_variant,p.Ala399Glu,ENST00000336509,;MFSD11,missense_variant,p.Ala347Glu,ENST00000355954,;MFSD11,missense_variant,p.Ala347Glu,ENST00000593181,;MFSD11,missense_variant,p.Ala399Glu,ENST00000586622,;MFSD11,missense_variant,p.Ala399Glu,ENST00000590514,;MFSD11,intron_variant,,ENST00000585865,;MFSD11,non_coding_transcript_exon_variant,,ENST00000590070,;MFSD11,downstream_gene_variant,,ENST00000585958,;MFSD11,non_coding_transcript_exon_variant,,ENST00000585692,;MFSD11,downstream_gene_variant,,ENST00000588768,;MFSD11,downstream_gene_variant,,ENST00000588647,;	3238	181	250	SUCCESS
DNAH2	146754	.	GRCh37	17	7720031	7720031	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770700071	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	121	1	ENST00000389173.2:c.9872C>T	p.Ala3291Val	p.A3291V	ENST00000389173	NM_020877.2	3291	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32551.1	9872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCCAGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12777	.	.	ENSP00000458355	.	64/86	.	.	.	.	.	.	.	.	rs770700071,COSM985359	64/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.014)	.	.	0,1	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Ala3291Val,ENST00000389173,;DNAH2,missense_variant,p.Ala3291Val,ENST00000572933,;DNAH2,missense_variant,p.Ala240Val,ENST00000575105,;	11332	122	77	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79424536	79424536	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	48	0	ENST00000307745.7:c.4959G>T	p.Val1653=	p.V1653=	ENST00000307745		1653	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	.	4959	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCCGTGCTGGG	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,synonymous_variant,p.%3D,ENST00000571813,;RP11-1055B8.7,synonymous_variant,p.%3D,ENST00000307745,;RP11-1055B8.8,downstream_gene_variant,,ENST00000572590,;RP11-1055B8.7,non_coding_transcript_exon_variant,,ENST00000576071,;RP11-1055B8.7,upstream_gene_variant,,ENST00000576039,;	4959	48	39	SUCCESS
GLP2R	9340	.	GRCh37	17	9729529	9729529	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1382309825	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	17	0	ENST00000262441.5:c.149G>A	p.Arg50Lys	p.R50K	ENST00000262441	NM_004246.1	50	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS11150.1	149	MUTECT|MUSE	.	TGGGAGGCCCT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269	.	.	ENSP00000262441	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000262441	Transcript	.	.	ENSG00000065325	4325	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.09)	.	GLP2R_HUMAN	GLP2R	HGNC	I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN	.	UPI0000050469	SNV	GLP2R,missense_variant,p.Arg50Lys,ENST00000262441,;GLP2R,intron_variant,,ENST00000574745,;RP11-477N12.3,upstream_gene_variant,,ENST00000399363,;GLP2R,missense_variant,p.Arg50Lys,ENST00000458005,;	662	17	9	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14772175	14772175	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs45578438	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	54	0	ENST00000358984.4:c.1277T>C	p.Ile426Thr	p.I426T	ENST00000358984	NM_001145029.1	426	aTt/aCt	0	C:0.0007	C:0	.	C:0.0014	.	C	I/T	protein_coding	YES	CCDS54182.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTATTGAAA	NONE	byFrequency|suspect|byCluster|by1000G	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147	C:0	C:0.0025	ENSP00000351875	C:0.001	9/36	.	.	.	.	.	.	.	.	rs45578438	9/36	PASS	ENST00000358984	Transcript	.	C:0.0004	ENSG00000180777	24165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	C:0	tolerated(1)	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,missense_variant,p.Ile426Thr,ENST00000447268,;ANKRD30B,missense_variant,p.Ile426Thr,ENST00000358984,;AP006564.1,downstream_gene_variant,,ENST00000579337,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Ile426Thr,ENST00000580206,;	1457	54	46	SUCCESS
TRAPPC8	22878	.	GRCh37	18	29511372	29511372	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	16	149	0	ENST00000283351.4:c.272A>T	p.Asp91Val	p.D91V	ENST00000283351	NM_014939.3	91	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS11901.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATCATTC	NONE	.	.	hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6	.	.	ENSP00000283351	.	2/29	.	.	.	.	.	.	.	.	COSM473761	2/29	PASS	ENST00000283351	Transcript	.	.	ENSG00000153339	29169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.588)	.	deleterious(0)	1	TPPC8_HUMAN	TRAPPC8	HGNC	J3QQJ5_HUMAN,J3QKL6_HUMAN	.	UPI0000052E22	SNV	TRAPPC8,missense_variant,p.Asp37Val,ENST00000582539,;TRAPPC8,missense_variant,p.Asp91Val,ENST00000582513,;TRAPPC8,missense_variant,p.Asp91Val,ENST00000283351,;TRAPPC8,missense_variant,p.Asp66Val,ENST00000578658,;TRAPPC8,non_coding_transcript_exon_variant,,ENST00000584876,;TRAPPC8,missense_variant,p.Asp91Val,ENST00000580104,;	608	149	113	SUCCESS
TCEB3B	0	.	GRCh37	18	44560523	44560523	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	92	0	ENST00000332567.4:c.1113T>A	p.Asp371Glu	p.D371E	ENST00000332567	NM_016427.2	371	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS11932.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATATCTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141	.	.	ENSP00000331302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332567	Transcript	.	.	ENSG00000206181	30771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.43)	.	ELOA2_HUMAN	TCEB3B	HGNC	.	.	UPI0000140A82	SNV	TCEB3B,missense_variant,p.Asp371Glu,ENST00000332567,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,;	1466	92	55	SUCCESS
MC4R	4160	.	GRCh37	18	58039945	58039945	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	100	0	ENST00000299766.3:c.-363T>A		p.*121*	ENST00000299766	NM_005912.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11976.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCACATGC	NONE	.	.	.	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,5_prime_UTR_variant,,ENST00000299766,;	57	100	78	SUCCESS
ANKRD12	23253	.	GRCh37	18	9254383	9254383	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	89	0	ENST00000262126.4:c.1118A>G	p.Lys373Arg	p.K373R	ENST00000262126	NM_015208.4	373	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11843.1	1118	MUTECT|MUSE|VARSCANS	.	TAATAAGATGA	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.049)	.	deleterious(0.04)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Lys350Arg,ENST00000383440,;ANKRD12,missense_variant,p.Lys373Arg,ENST00000262126,;ANKRD12,missense_variant,p.Lys350Arg,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;Y_RNA,upstream_gene_variant,,ENST00000364013,;Y_RNA,downstream_gene_variant,,ENST00000384364,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	1358	89	82	SUCCESS
ZNF441	126068	.	GRCh37	19	11888524	11888524	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	16	159	0	ENST00000357901.4:c.102G>A	p.Gln34=	p.Q34=	ENST00000357901	NM_152355.2	34	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS12266.2	102	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGGAAAC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF22,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000350576	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000357901	Transcript	.	.	ENSG00000197044	20875	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN441_HUMAN	ZNF441	HGNC	J3KQM6_HUMAN	.	UPI000059D677	SNV	ZNF441,synonymous_variant,p.%3D,ENST00000357901,;ZNF441,5_prime_UTR_variant,,ENST00000454339,;ZNF441,synonymous_variant,p.%3D,ENST00000409902,;ZNF441,non_coding_transcript_exon_variant,,ENST00000462251,;	204	159	170	SUCCESS
ZNF439	90594	.	GRCh37	19	11978948	11978948	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	73	0	ENST00000304030.2:c.1064A>G	p.Glu355Gly	p.E355G	ENST00000304030	NM_152262.2	355	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12268.1	1064	RADIA|MUTECT|MUSE|VARSCANS	.	TTATGAATGTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF35,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000305077	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304030	Transcript	.	.	ENSG00000171291	20873	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.532)	.	deleterious(0.03)	.	ZN439_HUMAN	ZNF439	HGNC	C9JMA7_HUMAN	.	UPI000006F768	SNV	ZNF439,missense_variant,p.Glu355Gly,ENST00000304030,;ZNF439,missense_variant,p.Glu219Gly,ENST00000455282,;ZNF439,downstream_gene_variant,,ENST00000442091,;ZNF439,intron_variant,,ENST00000592534,;	1264	73	88	SUCCESS
OR7C2	26658	.	GRCh37	19	15052324	15052324	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	82	0	ENST00000248072.3:c.24A>T	p.Glu8Asp	p.E8D	ENST00000248072	NM_012377.1	8	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS12320.1	24	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAAGTTGG	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF307,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000248072	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248072	Transcript	.	.	ENSG00000127529	8374	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.045)	.	tolerated_low_confidence(0.51)	.	OR7C2_HUMAN	OR7C2	HGNC	.	.	UPI0000041E80	SNV	OR7C2,missense_variant,p.Glu8Asp,ENST00000248072,;	24	82	125	SUCCESS
ONECUT3	390874	.	GRCh37	19	1775332	1775332	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	23	142	0	ENST00000382349.4:c.1373T>C	p.Val458Ala	p.V458A	ENST00000382349	NM_001080488.1	458	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS45900.1	1373	RADIA|MUTECT|MUSE|VARSCANS	.	CACCGTCAGCA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF34,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000371786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382349	Transcript	.	.	ENSG00000205922	13399	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ONEC3_HUMAN	ONECUT3	HGNC	.	.	UPI000059D61D	SNV	ONECUT3,missense_variant,p.Val458Ala,ENST00000382349,;	2663	142	153	SUCCESS
IL12RB1	3594	.	GRCh37	19	18183075	18183075	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	18	178	0	ENST00000593993.2:c.868T>C	p.Ser290Pro	p.S290P	ENST00000593993	NM_005535.1	290	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS54232.1	868	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGACAGCA	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51	.	.	ENSP00000470788	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000600835	Transcript	1	.	ENSG00000096996	5971	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	I12R1_HUMAN	IL12RB1	HGNC	M0R382_HUMAN,M0QX06_HUMAN	.	UPI00000502CE	SNV	IL12RB1,missense_variant,p.Ser290Pro,ENST00000322153,;IL12RB1,missense_variant,p.Ser290Pro,ENST00000593993,;IL12RB1,missense_variant,p.Ser290Pro,ENST00000600835,;	1167	179	167	SUCCESS
ELL	8178	.	GRCh37	19	18576653	18576653	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	64	0	ENST00000262809.4:c.259G>A	p.Asp87Asn	p.D87N	ENST00000262809	NM_006532.3	87	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12380.1	259	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCGCGGC	NONE	.	.	hmmpanther:PTHR23288:SF9,hmmpanther:PTHR23288,Pfam_domain:PF10390	.	.	ENSP00000262809	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000262809	Transcript	.	.	ENSG00000105656	23114	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.74)	.	tolerated(0.05)	.	ELL_HUMAN	ELL	HGNC	Q75MS0_HUMAN	.	UPI0000062324	SNV	ELL,missense_variant,p.Asp87Asn,ENST00000262809,;ELL,5_prime_UTR_variant,,ENST00000596124,;ELL,3_prime_UTR_variant,,ENST00000594635,;	331	64	51	SUCCESS
ZNF714	148206	.	GRCh37	19	21299624	21299624	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs371085101	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	40	74	0	ENST00000596143.1:c.154T>C	p.Ser52Pro	p.S52P	ENST00000596143	NM_182515.3	52	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS54239.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTCTTTT	NONE	.	.	hmmpanther:PTHR24384:SF104,hmmpanther:PTHR24384	.	.	ENSP00000472368	.	5/5	.	.	.	.	.	.	.	.	rs371085101	5/5	PASS	ENST00000596143	Transcript	.	.	ENSG00000160352	27124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0.02)	.	ZN714_HUMAN	ZNF714	HGNC	M0R2G4_HUMAN,M0QYV9_HUMAN	.	UPI000059D6C5	SNV	ZNF714,missense_variant,p.Ser52Pro,ENST00000596143,;ZNF714,missense_variant,p.Ser80Pro,ENST00000596367,;ZNF714,missense_variant,p.Phe58Ser,ENST00000601416,;ZNF714,intron_variant,,ENST00000291770,;ZNF714,intron_variant,,ENST00000597424,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,intron_variant,,ENST00000597086,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Phe58Ser,ENST00000600770,;ZNF714,missense_variant,p.Ser52Pro,ENST00000600435,;AC010620.1,upstream_gene_variant,,ENST00000456283,;	479	74	72	SUCCESS
ZNF98	148198	.	GRCh37	19	22605105	22605105	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs570847081	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	28	0	ENST00000357774.5:c.-79G>A		p.*27*	ENST00000357774	NM_001098626.1			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS46031.1	.	MUTECT|MUSE	.	AAGGGCGAAGA	NONE	by1000G	.	.	A:0	.	ENSP00000350418	A:0	1/4	.	.	.	.	.	.	.	.	rs570847081	1/4	PASS	ENST00000357774	Transcript	.	A:0.0002	ENSG00000197360	13174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,5_prime_UTR_variant,,ENST00000357774,;ZNF98,5_prime_UTR_variant,,ENST00000593657,;ZNF98,5_prime_UTR_variant,,ENST00000601553,;ZNF98,intron_variant,,ENST00000593802,;AC011516.1,upstream_gene_variant,,ENST00000599129,;	44	28	30	SUCCESS
CEP89	84902	.	GRCh37	19	33439208	33439208	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	35	0	ENST00000305768.5:c.559G>A	p.Gly187Ser	p.G187S	ENST00000305768	NM_032816.3	187	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32987.1	559	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCTGGAA	NONE	.	.	.	.	.	ENSP00000306105	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000305768	Transcript	1	.	ENSG00000121289	25907	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.177)	.	tolerated(0.69)	.	CEP89_HUMAN	CEP89	HGNC	.	.	UPI000020202C	SNV	CEP89,missense_variant,p.Gly187Ser,ENST00000590597,;CEP89,missense_variant,p.Gly159Ser,ENST00000593276,;CEP89,missense_variant,p.Gly187Ser,ENST00000305768,;CEP89,missense_variant,p.Gly103Ser,ENST00000591698,;CEP89,missense_variant,p.Gly187Ser,ENST00000586984,;	648	35	52	SUCCESS
ZNF569	148266	.	GRCh37	19	37935834	37935834	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	36	0	ENST00000316950.6:c.-11A>T		p.*4*	ENST00000316950	NM_152484.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12503.1	.	MUTECT|MUSE	.	CTTCTTTCTGG	NONE	.	.	.	.	.	ENSP00000325018	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000316950	Transcript	.	.	ENSG00000196437	24737	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN569_HUMAN	ZNF569	HGNC	Q17RR6_HUMAN	.	UPI0000202203	SNV	ZNF569,missense_variant,p.Lys21Ile,ENST00000591710,;ZNF569,missense_variant,p.Lys21Ile,ENST00000448051,;ZNF569,missense_variant,p.Lys21Ile,ENST00000589833,;ZNF569,5_prime_UTR_variant,,ENST00000316950,;ZNF569,5_prime_UTR_variant,,ENST00000592490,;ZNF569,5_prime_UTR_variant,,ENST00000392149,;ZNF569,5_prime_UTR_variant,,ENST00000392150,;ZNF569,non_coding_transcript_exon_variant,,ENST00000591073,;	548	36	49	SUCCESS
ZFP30	22835	.	GRCh37	19	38127120	38127120	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	35	111	1	ENST00000351218.2:c.322A>G	p.Arg108Gly	p.R108G	ENST00000351218	NM_014898.2	108	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS33005.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTTTCCA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246	.	.	ENSP00000343581	.	6/6	.	.	.	.	.	.	.	.	COSM995795	6/6	PASS	ENST00000351218	Transcript	.	.	ENSG00000120784	29555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.016)	.	tolerated(0.28)	1	ZFP30_HUMAN	ZFP30	HGNC	K7EK76_HUMAN,D3Y2A0_HUMAN	.	UPI0000139E7F	SNV	ZFP30,missense_variant,p.Arg108Gly,ENST00000514101,;ZFP30,missense_variant,p.Arg108Gly,ENST00000351218,;ZFP30,missense_variant,p.Arg108Gly,ENST00000392144,;ZFP30,missense_variant,p.Arg107Gly,ENST00000587809,;ZFP30,intron_variant,,ENST00000589018,;	880	112	130	SUCCESS
WDR87	83889	.	GRCh37	19	38382236	38382236	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	27	138	0	ENST00000303868.5:c.3233C>T	p.Pro1078Leu	p.P1078L	ENST00000303868	NM_031951.3	1078	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS46063.1	3233	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGCTTG	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.153)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Pro1117Leu,ENST00000447313,;WDR87,missense_variant,p.Pro1078Leu,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	3458	138	180	SUCCESS
TIMM50	92609	.	GRCh37	19	39980382	39980382	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	18	85	0	ENST00000607714.1:c.984G>A	p.Glu328=	p.E328=	ENST00000607714		328	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS33023.1	1293	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAGCTCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12210:SF3,hmmpanther:PTHR12210	.	.	ENSP00000318115	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000314349	Transcript	.	.	ENSG00000105197	23656	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TIM50_HUMAN	TIMM50	HGNC	.	.	UPI0000161278	SNV	TIMM50,synonymous_variant,p.%3D,ENST00000544017,;TIMM50,synonymous_variant,p.%3D,ENST00000314349,;TIMM50,synonymous_variant,p.%3D,ENST00000599794,;TIMM50,synonymous_variant,p.%3D,ENST00000607714,;TIMM50,downstream_gene_variant,,ENST00000597666,;TIMM50,downstream_gene_variant,,ENST00000601403,;TIMM50,downstream_gene_variant,,ENST00000594583,;TIMM50,downstream_gene_variant,,ENST00000602028,;TIMM50,upstream_gene_variant,,ENST00000600878,;TIMM50,synonymous_variant,p.%3D,ENST00000601252,;TIMM50,3_prime_UTR_variant,,ENST00000601358,;TIMM50,non_coding_transcript_exon_variant,,ENST00000597552,;TIMM50,non_coding_transcript_exon_variant,,ENST00000595961,;TIMM50,downstream_gene_variant,,ENST00000596239,;TIMM50,downstream_gene_variant,,ENST00000597782,;TIMM50,upstream_gene_variant,,ENST00000595527,;TIMM50,downstream_gene_variant,,ENST00000599733,;TIMM50,downstream_gene_variant,,ENST00000602265,;	1426	85	143	SUCCESS
LTBP4	8425	.	GRCh37	19	41131776	41131776	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	32	0	ENST00000308370.7:c.4045G>C	p.Val1349Leu	p.V1349L	ENST00000308370	NM_001042544.1	1349	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	.	4045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGAGTGTGC	NONE	.	.	Superfamily_domains:SSF57581,Gene3D:3.90.290.10,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS51364	.	.	ENSP00000311905	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	tolerated(0.26)	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,missense_variant,p.Val259Leu,ENST00000599724,;LTBP4,missense_variant,p.Val1282Leu,ENST00000396819,;LTBP4,missense_variant,p.Val717Leu,ENST00000545697,;LTBP4,missense_variant,p.Val1312Leu,ENST00000204005,;LTBP4,missense_variant,p.Val1349Leu,ENST00000308370,;LTBP4,missense_variant,p.Val496Leu,ENST00000601032,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000597071,;LTBP4,downstream_gene_variant,,ENST00000593463,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,downstream_gene_variant,,ENST00000597603,;LTBP4,downstream_gene_variant,,ENST00000595183,;LTBP4,upstream_gene_variant,,ENST00000599225,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000597151,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,downstream_gene_variant,,ENST00000597816,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000598178,;LTBP4,downstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000595665,;LTBP4,downstream_gene_variant,,ENST00000594116,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000594266,;	4045	32	70	SUCCESS
DMRTC2	63946	.	GRCh37	19	42351496	42351496	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs145938783	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	56	0	ENST00000269945.3:c.-1C>A		p.*1*	ENST00000269945	NM_001040283.1			0	T:0	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS33034.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCATGGA	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000269945	T:0.001	2/9	.	.	.	.	.	.	.	.	rs145938783	2/9	PASS	ENST00000269945	Transcript	.	T:0.0002	ENSG00000142025	13911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	DMRTD_HUMAN	DMRTC2	HGNC	M0R2D7_HUMAN,M0R1Z9_HUMAN,M0QZH7_HUMAN	.	UPI0000071B2A	SNV	DMRTC2,5_prime_UTR_variant,,ENST00000269945,;DMRTC2,5_prime_UTR_variant,,ENST00000596827,;DMRTC2,5_prime_UTR_variant,,ENST00000600017,;DMRTC2,5_prime_UTR_variant,,ENST00000596258,;DMRTC2,5_prime_UTR_variant,,ENST00000596660,;LYPD4,upstream_gene_variant,,ENST00000330743,;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,non_coding_transcript_exon_variant,,ENST00000602098,;DMRTC2,5_prime_UTR_variant,,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;	51	56	82	SUCCESS
MEGF8	1954	.	GRCh37	19	42859978	42859978	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	65	0	ENST00000251268.6:c.4213G>A	p.Ala1405Thr	p.A1405T	ENST00000251268		1405	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12604.2	4012	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCCCGC	NONE	.	.	PROSITE_profiles:PS50026,PROSITE_profiles:PS01180,hmmpanther:PTHR10574:SF241,hmmpanther:PTHR10574,Gene3D:2gy5A03	.	.	ENSP00000334219	.	23/41	.	.	.	.	.	.	.	.	COSM1394146,COSM1394147,COSM1394145	23/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	possibly_damaging(0.503)	.	tolerated(0.53)	1,1,1	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Ala1338Thr,ENST00000334370,;MEGF8,missense_variant,p.Ala1405Thr,ENST00000251268,;MEGF8,downstream_gene_variant,,ENST00000593840,;	4647	65	55	SUCCESS
ZNF222	7673	.	GRCh37	19	44536345	44536345	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773301920	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	212	28	184	0	ENST00000187879.8:c.518A>G	p.Tyr173Cys	p.Y173C	ENST00000187879	NM_013360.2	173	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46098.1	638	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTATAAGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF163,hmmpanther:PTHR24402,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000375822	.	4/4	.	.	.	.	.	.	.	.	rs773301920	4/4	PASS	ENST00000391960	Transcript	.	.	ENSG00000159885	13015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.035)	.	deleterious(0.05)	.	ZN222_HUMAN	ZNF222	HGNC	Q02387_HUMAN	.	UPI000014182E	SNV	ZNF222,missense_variant,p.Tyr213Cys,ENST00000391960,;ZNF222,missense_variant,p.Tyr173Cys,ENST00000187879,;ZNF222,downstream_gene_variant,,ENST00000587846,;ZNF222,downstream_gene_variant,,ENST00000590160,;ZNF223,intron_variant,,ENST00000591793,;	675	184	240	SUCCESS
CLASRP	11129	.	GRCh37	19	45543521	45543521	+	synonymous_variant	Silent	SNP	C	C	T	rs757003701	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	20	162	0	ENST00000221455.3:c.51C>T	p.Val17=	p.V17=	ENST00000221455	NM_007056.2	17	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12652.2	51	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCGACTA	NONE	byFrequency	.	hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4	.	.	ENSP00000221455	.	2/21	.	.	.	.	.	.	.	.	rs757003701	2/21	PASS	ENST00000221455	Transcript	.	.	ENSG00000104859	17731	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLASR_HUMAN	CLASRP	HGNC	K7EKC9_HUMAN	.	UPI000020262D	SNV	CLASRP,synonymous_variant,p.%3D,ENST00000391953,;CLASRP,synonymous_variant,p.%3D,ENST00000588936,;CLASRP,synonymous_variant,p.%3D,ENST00000221455,;CLASRP,synonymous_variant,p.%3D,ENST00000544944,;RELB,downstream_gene_variant,,ENST00000221452,;RELB,downstream_gene_variant,,ENST00000505236,;RELB,downstream_gene_variant,,ENST00000589972,;RELB,downstream_gene_variant,,ENST00000540120,;CLASRP,synonymous_variant,p.%3D,ENST00000591410,;CLASRP,synonymous_variant,p.%3D,ENST00000391952,;CLASRP,non_coding_transcript_exon_variant,,ENST00000592056,;CLASRP,non_coding_transcript_exon_variant,,ENST00000588247,;CLASRP,upstream_gene_variant,,ENST00000587112,;RELB,downstream_gene_variant,,ENST00000509229,;	149	162	209	SUCCESS
FEM1A	55527	.	GRCh37	19	4793795	4793795	+	synonymous_variant	Silent	SNP	G	G	A	rs1411747272	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	39	0	ENST00000269856.3:c.1929G>A	p.Ala643=	p.A643=	ENST00000269856	NM_018708.2	643	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12135.1	1929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGGCCCG	NONE	.	.	hmmpanther:PTHR24173:SF12,hmmpanther:PTHR24173	.	.	ENSP00000269856	.	1/1	.	.	.	.	.	.	.	.	COSM1394076	1/1	PASS	ENST00000269856	Transcript	.	.	ENSG00000141965	16934	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FEM1A_HUMAN	FEM1A	HGNC	.	.	UPI0000073096	SNV	FEM1A,synonymous_variant,p.%3D,ENST00000269856,;AC005523.3,upstream_gene_variant,,ENST00000598782,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;AC005523.2,downstream_gene_variant,,ENST00000596170,;	2068	39	61	SUCCESS
SYNGR4	23546	.	GRCh37	19	48879425	48879425	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776489121	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	24	143	0	ENST00000344846.2:c.555G>A	p.Met185Ile	p.M185I	ENST00000344846	NM_012451.3	185	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS12717.1	555	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGGTGCT	NONE	byFrequency	.	hmmpanther:PTHR10838,hmmpanther:PTHR10838:SF2,PIRSF_domain:PIRSF011282	.	.	ENSP00000344041	.	5/5	.	.	.	.	.	.	.	.	rs776489121	5/5	PASS	ENST00000344846	Transcript	.	.	ENSG00000105467	11502	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.07)	.	SNG4_HUMAN	SYNGR4	HGNC	M0QYL0_HUMAN	.	UPI000013C7EB	SNV	SYNGR4,missense_variant,p.Met185Ile,ENST00000344846,;SYNGR4,3_prime_UTR_variant,,ENST00000601610,;SYNGR4,3_prime_UTR_variant,,ENST00000595322,;SYNGR4,downstream_gene_variant,,ENST00000600863,;	805	143	174	SUCCESS
SIGLEC11	114132	.	GRCh37	19	50464033	50464033	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772560355	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	24	160	0	ENST00000447370.2:c.236G>A	p.Ser79Asn	p.S79N	ENST00000447370	NM_052884.2	79	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS12790.2	236	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGCTGGTC	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000412361	.	2/11	.	.	.	.	.	.	.	.	rs772560355	2/11	PASS	ENST00000447370	Transcript	.	.	ENSG00000161640	15622	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	SIG11_HUMAN	SIGLEC11	HGNC	H7BZU6_HUMAN	.	UPI00018131F5	SNV	SIGLEC11,missense_variant,p.Ser79Asn,ENST00000426971,;SIGLEC11,missense_variant,p.Ser79Asn,ENST00000447370,;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	327	160	195	SUCCESS
KLK9	284366	.	GRCh37	19	51506441	51506441	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	57	0	ENST00000250366.6:c.679A>C	p.Arg227=	p.R227=	ENST00000250366	NM_012315.1	227	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS12816.1	679	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCTGGAGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF72,hmmpanther:PTHR24259,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000366028	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000376832	Transcript	.	.	ENSG00000213022	6370	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLK9_HUMAN	KLK9	HGNC	Q2XQG6_HUMAN,Q2XQG4_HUMAN	.	UPI000004CA0A	SNV	KLK9,synonymous_variant,p.%3D,ENST00000376832,;KLK9,synonymous_variant,p.%3D,ENST00000594211,;KLK8,upstream_gene_variant,,ENST00000291726,;KLK8,upstream_gene_variant,,ENST00000347619,;KLK8,upstream_gene_variant,,ENST00000391806,;KLK8,upstream_gene_variant,,ENST00000320838,;KLK8,upstream_gene_variant,,ENST00000600767,;KLK8,upstream_gene_variant,,ENST00000595238,;KLK8,upstream_gene_variant,,ENST00000593490,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK9,synonymous_variant,p.%3D,ENST00000250366,;KLK9,synonymous_variant,p.%3D,ENST00000599166,;KLK9,3_prime_UTR_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594669,;KLK8,upstream_gene_variant,,ENST00000599710,;	713	57	70	SUCCESS
ZNF578	147660	.	GRCh37	19	53014631	53014631	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	33	151	0	ENST00000421239.2:c.997C>T	p.His333Tyr	p.H333Y	ENST00000421239	NM_001099694.1	333	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS54310.1	997	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCCATCAT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50157	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	COSM3371462,COSM3538101	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.494)	.	deleterious(0)	1,1	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.His333Tyr,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;	1241	151	202	SUCCESS
ZNF761	388561	.	GRCh37	19	53960271	53960271	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	46	0	ENST00000454407.1:n.2963G>C		p.*988*	ENST00000454407				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTGGGCAT	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000454407	Transcript	.	.	ENSG00000160336	23179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF761	HGNC	.	.	.	SNV	ZNF761,non_coding_transcript_exon_variant,,ENST00000429310,;ZNF761,non_coding_transcript_exon_variant,,ENST00000454407,;ZNF761,non_coding_transcript_exon_variant,,ENST00000334095,;ZNF761,downstream_gene_variant,,ENST00000432094,;	2963	46	79	SUCCESS
MIR525	574470	.	GRCh37	19	54200818	54200818	+	mature_miRNA_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	85	0	ENST00000384978.1:n.32T>A		p.*11*	ENST00000384978				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	GCACTTTCTCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384978	Transcript	.	.	ENSG00000207711	32102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MIR525	HGNC	.	.	.	SNV	MIR525,mature_miRNA_variant,,ENST00000384978,;MIR526B,downstream_gene_variant,,ENST00000384848,;MIR518F,upstream_gene_variant,,ENST00000384973,;MIR520B,upstream_gene_variant,,ENST00000384989,;MIR523,upstream_gene_variant,,ENST00000385281,;MIR519B,downstream_gene_variant,,ENST00000385090,;	32	85	89	SUCCESS
RPS9	6203	.	GRCh37	19	54705416	54705416	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	31	62	0	ENST00000302907.4:c.160del	p.Arg54AlafsTer8	p.R54Afs*8	ENST00000302907	NM_001013.3	53	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS12884.1	159	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGATCCGCAA	NONE	.	.	hmmpanther:PTHR11831,Pfam_domain:PF00163,TIGRFAM_domain:TIGR01018,Superfamily_domains:SSF55174	.	.	ENSP00000302896	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000302907	Transcript	.	.	ENSG00000170889	10442	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RS9_HUMAN	RPS9	HGNC	.	.	UPI00000040B2	deletion	RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000391751,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000402367,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000441429,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000391752,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000391753,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000302907,;AC012314.20,upstream_gene_variant,,ENST00000426213,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000445961,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000448962,;RPS9,frameshift_variant,p.Arg54AlafsTer8,ENST00000436445,;RPS9,non_coding_transcript_exon_variant,,ENST00000495002,;RPS9,non_coding_transcript_exon_variant,,ENST00000484121,;RPS9,non_coding_transcript_exon_variant,,ENST00000460761,;	331	62	139	SUCCESS
NLRP7	199713	.	GRCh37	19	55453072	55453072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142163492	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	72	0	ENST00000340844.2:c.8C>T	p.Ser3Leu	p.S3L	ENST00000340844	NM_206828.3	3	tCg/tTg	0	A:0	.	.	.	.	A	S/L	protein_coding	YES	CCDS46183.1	8	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGATGTC	NONE	byCluster	.	PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106	.	A:0.0002	ENSP00000467123	.	4/13	.	.	.	.	.	.	.	.	rs142163492	4/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.15)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Ser3Leu,ENST00000590659,;NLRP7,missense_variant,p.Ser3Leu,ENST00000587103,;NLRP7,missense_variant,p.Ser3Leu,ENST00000590030,;NLRP7,missense_variant,p.Ser31Leu,ENST00000446217,;NLRP7,missense_variant,p.Ser3Leu,ENST00000588756,;NLRP7,missense_variant,p.Ser3Leu,ENST00000448121,;NLRP7,missense_variant,p.Ser3Leu,ENST00000328092,;NLRP7,missense_variant,p.Ser3Leu,ENST00000587844,;NLRP7,missense_variant,p.Ser3Leu,ENST00000592784,;NLRP7,missense_variant,p.Ser3Leu,ENST00000340844,;NLRP7,missense_variant,p.Ser3Leu,ENST00000586379,;	495	72	84	SUCCESS
FAM71E2	284418	.	GRCh37	19	55871144	55871144	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	15	132	0	ENST00000424985.3:c.1092C>T	p.Pro364=	p.P364=	ENST00000424985	NM_001145402.1	364	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	.	1092	RADIA|MUTECT|MUSE|VARSCANS	.	GGATAGGGAGC	NONE	.	.	hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF1	.	.	ENSP00000398617	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000424985	Transcript	.	.	ENSG00000180043	25278	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F71E2_HUMAN	FAM71E2	HGNC	.	.	UPI0001949ABA	SNV	FAM71E2,synonymous_variant,p.%3D,ENST00000424985,;IL11,downstream_gene_variant,,ENST00000264563,;COX6B2,upstream_gene_variant,,ENST00000326529,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;CTD-2105E13.6,upstream_gene_variant,,ENST00000591954,;	1286	132	147	SUCCESS
NLRP4	147945	.	GRCh37	19	56369470	56369470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	29	116	0	ENST00000301295.6:c.711G>T	p.Gln237His	p.Q237H	ENST00000301295	NM_134444.4	237	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS12936.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGGCGG	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Pfam_domain:PF05729	.	.	ENSP00000301295	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000301295	Transcript	.	.	ENSG00000160505	22943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.09)	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,missense_variant,p.Gln237His,ENST00000301295,;NLRP4,missense_variant,p.Gln237His,ENST00000346986,;NLRP4,missense_variant,p.Gln162His,ENST00000587891,;NLRP4,upstream_gene_variant,,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	1133	116	172	SUCCESS
CATSPERD	257062	.	GRCh37	19	5766134	5766134	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	18	112	0	ENST00000381624.3:c.1527C>G	p.Gly509=	p.G509=	ENST00000381624	NM_152784.3	509	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS12149.2	1527	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCTGCGA	NONE	.	.	Pfam_domain:PF15020	.	.	ENSP00000371037	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000381624	Transcript	.	.	ENSG00000174898	28598	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CTSRD_HUMAN	CATSPERD	HGNC	.	.	UPI000059D641	SNV	CATSPERD,synonymous_variant,p.%3D,ENST00000381614,;CATSPERD,synonymous_variant,p.%3D,ENST00000381624,;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;	1588	112	136	SUCCESS
ZNF135	7694	.	GRCh37	19	58578913	58578913	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	23	129	0	ENST00000313434.5:c.1061A>T	p.Tyr354Phe	p.Y354F	ENST00000313434	NM_003436.3	354	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS54329.1	1133	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTATCAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	tolerated(0.21)	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Tyr378Phe,ENST00000401053,;ZNF135,missense_variant,p.Tyr312Phe,ENST00000506786,;ZNF135,missense_variant,p.Tyr354Phe,ENST00000313434,;ZNF135,missense_variant,p.Tyr366Phe,ENST00000359978,;ZNF135,missense_variant,p.Tyr366Phe,ENST00000511556,;ZNF135,missense_variant,p.Tyr354Phe,ENST00000439855,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	1136	129	167	SUCCESS
MUC16	94025	.	GRCh37	19	9049896	9049896	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	50	198	0	ENST00000397910.4:c.31735A>G	p.Arg10579Gly	p.R10579G	ENST00000397910	NM_024690.2	10579	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS54212.1	31735	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTCTCTG	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Arg10579Gly,ENST00000397910,;	31939	199	280	SUCCESS
MUC16	94025	.	GRCh37	19	9056445	9056445	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	29	183	0	ENST00000397910.4:c.31001C>T	p.Ser10334Phe	p.S10334F	ENST00000397910	NM_024690.2	10334	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS54212.1	31001	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	COSM3542133,COSM3542132	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.293)	.	.	1,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser10334Phe,ENST00000397910,;	31205	183	242	SUCCESS
ZNF426	79088	.	GRCh37	19	9641667	9641667	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	77	0	ENST00000253115.2:c.402A>G	p.Ile134Met	p.I134M	ENST00000253115	NM_024106.1	134	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS12215.1	402	RADIA|MUTECT|MUSE|VARSCANS	.	AATTGTATCCC	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF85	.	.	ENSP00000439017	.	5/6	.	.	.	.	.	.	.	.	COSM1613211	5/6	PASS	ENST00000535489	Transcript	.	.	ENSG00000130818	20725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.007)	.	tolerated(0.25)	1	ZN426_HUMAN	ZNF426	HGNC	.	.	UPI0000072122	SNV	ZNF426,missense_variant,p.Ile134Met,ENST00000535489,;ZNF426,missense_variant,p.Ile134Met,ENST00000253115,;ZNF426,missense_variant,p.Ile96Met,ENST00000593003,;ZNF426,intron_variant,,ENST00000589289,;	739	77	80	SUCCESS
SPAG17	200162	.	GRCh37	1	118558673	118558673	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	43	297	0	ENST00000336338.5:c.4202A>C	p.Asn1401Thr	p.N1401T	ENST00000336338	NM_206996.2	1401	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS899.1	4202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGATTTCCT	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	29/49	.	.	.	.	.	.	.	.	.	29/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.39)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Asn1401Thr,ENST00000336338,;	4268	297	197	SUCCESS
PRAMEF2	65122	.	GRCh37	1	12919960	12919960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	31	161	0	ENST00000240189.2:c.700C>T	p.Leu234Phe	p.L234F	ENST00000240189	NM_023014.1	234	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS149.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTCTTTGC	NONE	.	.	hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000240189	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000240189	Transcript	.	.	ENSG00000120952	28841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	deleterious(0)	.	PRAM2_HUMAN	PRAMEF2	HGNC	.	.	UPI0000139EF9	SNV	PRAMEF2,missense_variant,p.Leu234Phe,ENST00000240189,;	787	161	135	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144931551	144931551	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	233	12	222	0	ENST00000369354.3:c.637-7730A>G		p.*213*	ENST00000369354				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55627.1	.	MUTECT|MUSE	.	CACACTTGCTG	NONE	.	.	.	.	.	ENSP00000358363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODIFIER	5/43	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.Lys53Arg,ENST00000313431,;PDE4DIP,missense_variant,p.Lys53Arg,ENST00000529945,;PDE4DIP,intron_variant,,ENST00000479408,;PDE4DIP,intron_variant,,ENST00000369354,;PDE4DIP,intron_variant,,ENST00000532801,;PDE4DIP,intron_variant,,ENST00000369349,;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000313382,;PDE4DIP,intron_variant,,ENST00000369356,;PDE4DIP,intron_variant,,ENST00000369351,;	.	222	246	SUCCESS
PRKAB2	5565	.	GRCh37	1	146634090	146634090	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	12	95	0	ENST00000254101.3:c.601A>G	p.Arg201Gly	p.R201G	ENST00000254101	NM_005399.4	201	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS925.1	601	RADIA|MUTECT|MUSE|VARSCANS	.	GAATCTTTCCT	NONE	.	.	hmmpanther:PTHR10343:SF43,hmmpanther:PTHR10343,Pfam_domain:PF04739,SMART_domains:SM01010,Superfamily_domains:SSF160219	.	.	ENSP00000254101	.	6/8	.	.	.	.	.	.	.	.	COSM126883	6/8	PASS	ENST00000254101	Transcript	.	.	ENSG00000131791	9379	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.419)	.	deleterious(0.03)	1	AAKB2_HUMAN	PRKAB2	HGNC	.	.	UPI00001250AF	SNV	PRKAB2,missense_variant,p.Arg201Gly,ENST00000254101,;PRKAB2,missense_variant,p.Arg119Gly,ENST00000425272,;PRKAB2,downstream_gene_variant,,ENST00000474939,;PRKAB2,upstream_gene_variant,,ENST00000496858,;	740	95	130	SUCCESS
VPS45	11311	.	GRCh37	1	150054035	150054035	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	14	117	0	ENST00000369130.3:c.892A>G	p.Lys298Glu	p.K298E	ENST00000369130	NM_001279354.1	298	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS944.1	892	MUTECT|MUSE	.	AGAAGAAACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11679:SF3,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.90.830.10,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000358126	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000369130	Transcript	.	.	ENSG00000136631	14579	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.216)	.	tolerated(0.09)	.	VPS45_HUMAN	VPS45	HGNC	.	.	UPI00000015E6	SNV	VPS45,missense_variant,p.Lys298Glu,ENST00000369130,;VPS45,missense_variant,p.Lys229Glu,ENST00000419023,;VPS45,missense_variant,p.Lys193Glu,ENST00000369128,;VPS45,missense_variant,p.Lys229Glu,ENST00000535106,;VPS45,non_coding_transcript_exon_variant,,ENST00000477558,;VPS45,downstream_gene_variant,,ENST00000497638,;VPS45,downstream_gene_variant,,ENST00000460366,;VPS45,downstream_gene_variant,,ENST00000462852,;	1438	117	185	SUCCESS
ECM1	1893	.	GRCh37	1	150483832	150483832	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	33	0	ENST00000369047.4:c.709-101A>T		p.*237*	ENST00000369047	NM_004425.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55632.1	.	MUTECT|MUSE	.	GGACAACCACT	NONE	.	.	.	.	.	ENSP00000358045	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369049	Transcript	.	.	ENSG00000143369	3153	.	.	MODIFIER	6/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECM1_HUMAN	ECM1	HGNC	.	.	UPI00003E5FE7	SNV	ECM1,intron_variant,,ENST00000369049,;ECM1,intron_variant,,ENST00000346569,;ECM1,intron_variant,,ENST00000369047,;TARS2,downstream_gene_variant,,ENST00000369054,;TARS2,downstream_gene_variant,,ENST00000369064,;TARS2,downstream_gene_variant,,ENST00000606933,;LINC00568,upstream_gene_variant,,ENST00000416894,;ECM1,non_coding_transcript_exon_variant,,ENST00000470432,;TARS2,downstream_gene_variant,,ENST00000483046,;ECM1,downstream_gene_variant,,ENST00000496744,;ECM1,downstream_gene_variant,,ENST00000498579,;ECM1,downstream_gene_variant,,ENST00000490346,;TARS2,downstream_gene_variant,,ENST00000467982,;TARS2,downstream_gene_variant,,ENST00000369051,;	.	33	52	SUCCESS
SETDB1	9869	.	GRCh37	1	150915464	150915464	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	299	31	188	0	ENST00000271640.5:c.810T>C	p.Asp270=	p.D270=	ENST00000271640	NM_001145415.1	270	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS44217.1	810	MUTECT|MUSE|VARSCANS	.	AAAGATGGGAA	NONE	.	.	PROSITE_profiles:PS51573,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884,SMART_domains:SM00333	.	.	ENSP00000271640	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000271640	Transcript	.	.	ENSG00000143379	10761	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETB1_HUMAN	SETDB1	HGNC	E9PS59_HUMAN,B0QZE6_HUMAN	.	UPI0000135897	SNV	SETDB1,synonymous_variant,p.%3D,ENST00000498193,;SETDB1,synonymous_variant,p.%3D,ENST00000271640,;SETDB1,synonymous_variant,p.%3D,ENST00000534805,;SETDB1,synonymous_variant,p.%3D,ENST00000368969,;SETDB1,synonymous_variant,p.%3D,ENST00000368962,;SETDB1,intron_variant,,ENST00000368963,;SETDB1,downstream_gene_variant,,ENST00000448029,;SETDB1,downstream_gene_variant,,ENST00000525956,;SETDB1,intron_variant,,ENST00000459773,;SETDB1,downstream_gene_variant,,ENST00000487584,;SETDB1,downstream_gene_variant,,ENST00000368964,;	1000	188	330	SUCCESS
FLG	2312	.	GRCh37	1	152286777	152286777	+	synonymous_variant	Silent	SNP	G	G	A	rs375267392	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	26	134	0	ENST00000368799.1:c.585C>T	p.Asp195=	p.D195=	ENST00000368799	NM_002016.1	195	gaC/gaT	0	T:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS30860.1	585	RADIA|MUTECT|MUSE|VARSCANS	.	CTATTGTCTCC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	T:0	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs375267392	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	621	134	252	SUCCESS
FLG2	388698	.	GRCh37	1	152327323	152327323	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	442	38	280	0	ENST00000388718.5:c.2939G>C	p.Gly980Ala	p.G980A	ENST00000388718	NM_001014342.2	980	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS30861.1	2939	MUTECT|MUSE	.	CTGAGCCTGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Gly980Ala,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	3012	280	480	SUCCESS
NPR1	4881	.	GRCh37	1	153653162	153653162	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs561449958	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	41	0	ENST00000368680.3:c.907C>T	p.Arg303Cys	p.R303C	ENST00000368680	NM_000906.3	303	Cgc/Tgc	0	.	G:0	.	G:0	.	T	R/C	protein_coding	YES	CCDS1051.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCCGCCAG	NONE	by1000G	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF232,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	G:0.001	.	ENSP00000357669	G:0	2/22	.	.	.	.	.	.	.	.	rs561449958,COSM1334307	2/22	PASS	ENST00000368680	Transcript	.	G:0.0002	ENSG00000169418	7943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.853)	G:0	deleterious(0)	0,1	ANPRA_HUMAN	NPR1	HGNC	.	.	UPI0000125B3D	SNV	NPR1,missense_variant,p.Arg303Cys,ENST00000368680,;NPR1,upstream_gene_variant,,ENST00000413826,;	1379	41	83	SUCCESS
GATAD2B	57459	.	GRCh37	1	153785891	153785891	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	17	167	0	ENST00000368655.4:c.1254T>C	p.Phe418=	p.F418=	ENST00000368655	NM_020699.2	418	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS1054.1	1254	MUTECT|MUSE	.	CATACAAAGGG	NONE	.	.	PROSITE_profiles:PS50114,hmmpanther:PTHR13455:SF4,hmmpanther:PTHR13455,Gene3D:3.30.50.10,Superfamily_domains:SSF57716	.	.	ENSP00000357644	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000368655	Transcript	.	.	ENSG00000143614	30778	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P66B_HUMAN	GATAD2B	HGNC	.	.	UPI0000071E1B	SNV	GATAD2B,synonymous_variant,p.%3D,ENST00000368655,;	1498	167	252	SUCCESS
CHRNB2	1141	.	GRCh37	1	154543704	154543704	+	synonymous_variant	Silent	SNP	C	C	T	rs777250519	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	22	139	0	ENST00000368476.3:c.405C>T	p.Ala135=	p.A135=	ENST00000368476	NM_000748.2	135	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1070.1	405	RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCGTGGT	NONE	.	.	hmmpanther:PTHR18945:SF80,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00254	.	.	ENSP00000357461	.	5/6	.	.	.	.	.	.	.	.	rs777250519	5/6	PASS	ENST00000368476	Transcript	.	.	ENSG00000160716	1962	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACHB2_HUMAN	CHRNB2	HGNC	Q5SXY3_HUMAN	.	UPI000012526E	SNV	CHRNB2,synonymous_variant,p.%3D,ENST00000368476,;	669	139	220	SUCCESS
KRTCAP2	200185	.	GRCh37	1	155145067	155145067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	14	142	0	ENST00000295682.4:c.275G>T	p.Gly92Val	p.G92V	ENST00000295682	NM_173852.3	92	gGa/gTa	0	.	.	.	.	.	A	D/Y	protein_coding	YES	.	508	MUTECT|MUSE	.	GGAATCCTTTG	NONE	.	.	.	.	.	ENSP00000477381	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000473363	Transcript	.	.	ENSG00000273088	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	RP11-201K10.3	Clone_based_vega_gene	.	.	UPI0003B928F7	SNV	RP11-201K10.3,missense_variant,p.Asp170Tyr,ENST00000473363,;KRTCAP2,missense_variant,p.Gly92Val,ENST00000295682,;TRIM46,upstream_gene_variant,,ENST00000368382,;TRIM46,upstream_gene_variant,,ENST00000392451,;TRIM46,upstream_gene_variant,,ENST00000334634,;TRIM46,upstream_gene_variant,,ENST00000543729,;TRIM46,upstream_gene_variant,,ENST00000368383,;TRIM46,upstream_gene_variant,,ENST00000545012,;TRIM46,upstream_gene_variant,,ENST00000368385,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000492892,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000463527,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000461136,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000487350,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000491084,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000490672,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000471891,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000497317,;KRTCAP2,intron_variant,,ENST00000482246,;TRIM46,upstream_gene_variant,,ENST00000474430,;TRIM46,upstream_gene_variant,,ENST00000468878,;TRIM46,upstream_gene_variant,,ENST00000464760,;	508	142	254	SUCCESS
NES	10763	.	GRCh37	1	156639411	156639411	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775617969	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	55	124	0	ENST00000368223.3:c.4569G>A	p.Met1523Ile	p.M1523I	ENST00000368223	NM_006617.1	1523	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1151.1	4569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCATCCC	NONE	byFrequency	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	rs775617969	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.03)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Met1523Ile,ENST00000368223,;	4702	124	273	SUCCESS
NES	10763	.	GRCh37	1	156641300	156641300	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	15	117	0	ENST00000368223.3:c.2680T>A	p.Ser894Thr	p.S894T	ENST00000368223	NM_006617.1	894	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS1151.1	2680	MUTECT|MUSE	.	CAGAGATCTCA	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.66)	.	deleterious(0.01)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Ser894Thr,ENST00000368223,;	2813	117	182	SUCCESS
FHAD1	114827	.	GRCh37	1	15684641	15684641	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	125	0	ENST00000358897.4:c.2532A>T	p.Leu844Phe	p.L844F	ENST00000358897	NM_052929.1	844	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	.	.	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTAAATAA	NONE	.	.	hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000318812	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000314668	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	FHAD1	HGNC	Q5JYW6_HUMAN	.	UPI00003728D4	SNV	FHAD1,missense_variant,p.Leu79Phe,ENST00000314668,;FHAD1,missense_variant,p.Leu97Phe,ENST00000314740,;FHAD1,missense_variant,p.Leu808Phe,ENST00000417793,;FHAD1,missense_variant,p.Leu844Phe,ENST00000358897,;FHAD1,missense_variant,p.Leu844Phe,ENST00000375998,;FHAD1,missense_variant,p.Leu163Phe,ENST00000444385,;FHAD1,missense_variant,p.Leu844Phe,ENST00000375999,;FHAD1,missense_variant,p.Leu115Phe,ENST00000529606,;FHAD1,non_coding_transcript_exon_variant,,ENST00000532408,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000483120,;FHAD1,upstream_gene_variant,,ENST00000481324,;	237	125	56	SUCCESS
FCRL5	83416	.	GRCh37	1	157494214	157494214	+	synonymous_variant	Silent	SNP	G	G	A	rs776474306	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	326	33	206	0	ENST00000361835.3:c.2094C>T	p.Val698=	p.V698=	ENST00000361835	NM_001195388.1	698	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1165.1	2094	MUTECT|MUSE|VARSCANS	.	AGGGTGACATC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	10/17	.	.	.	.	.	.	.	.	rs776474306	10/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,synonymous_variant,p.%3D,ENST00000361835,;FCRL5,synonymous_variant,p.%3D,ENST00000368190,;FCRL5,synonymous_variant,p.%3D,ENST00000356953,;FCRL5,synonymous_variant,p.%3D,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	2252	206	360	SUCCESS
OR10T2	128360	.	GRCh37	1	158368322	158368322	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	11	56	0	ENST00000334438.1:c.935A>C	p.Lys312Thr	p.K312T	ENST00000334438	NM_001004475.1	312	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS30895.1	935	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTTGGTT	NONE	.	.	.	.	.	ENSP00000334115	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334438	Transcript	.	.	ENSG00000186306	14816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.494)	.	deleterious(0.02)	.	O10T2_HUMAN	OR10T2	HGNC	.	.	UPI000003F220	SNV	OR10T2,missense_variant,p.Lys312Thr,ENST00000334438,;	935	56	92	SUCCESS
IGSF9	57549	.	GRCh37	1	159901621	159901621	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	9	43	0	ENST00000368094.1:c.1343C>T	p.Pro448Leu	p.P448L	ENST00000368094	NM_001135050.1	448	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS44254.1	1343	MUTECT|MUSE|VARSCANS	.	CAACAGGAGGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF534,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357073	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000368094	Transcript	.	.	ENSG00000085552	18132	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	TUTLA_HUMAN	IGSF9	HGNC	Q6XYD8_HUMAN	.	UPI000004A10B	SNV	IGSF9,missense_variant,p.Pro448Leu,ENST00000368094,;IGSF9,missense_variant,p.Pro432Leu,ENST00000361509,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,non_coding_transcript_exon_variant,,ENST00000493195,;IGSF9,non_coding_transcript_exon_variant,,ENST00000496645,;	1541	43	96	SUCCESS
ATP1A4	480	.	GRCh37	1	160141549	160141549	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	38	0	ENST00000368081.4:c.1854+2T>C		p.X618_splice	ENST00000368081	NM_144699.3	618		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1197.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGTAAATA	NONE	.	.	.	.	.	ENSP00000357060	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	HIGH	12/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,splice_donor_variant,,ENST00000368081,;ATP1A4,splice_donor_variant,,ENST00000418334,;ATP1A4,splice_donor_variant,,ENST00000469023,;ATP1A4,splice_donor_variant,,ENST00000477338,;	.	38	84	SUCCESS
GPA33	10223	.	GRCh37	1	167038166	167038166	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	288	28	163	1	ENST00000367868.3:c.408G>T	p.Leu136Phe	p.L136F	ENST00000367868	NM_005814.1	136	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1258.1	408	MUTECT|MUSE	.	AGGACCAACAG	NONE	.	.	hmmpanther:PTHR12231:SF11,hmmpanther:PTHR12231,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000356842	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000367868	Transcript	.	.	ENSG00000143167	4445	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.196)	.	tolerated(0.21)	.	GPA33_HUMAN	GPA33	HGNC	.	.	UPI000012502D	SNV	GPA33,missense_variant,p.Leu136Phe,ENST00000367868,;GPA33,non_coding_transcript_exon_variant,,ENST00000527955,;GPA33,3_prime_UTR_variant,,ENST00000534512,;	752	164	316	SUCCESS
DNM3	26052	.	GRCh37	1	172357765	172357765	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	10	60	0	ENST00000355305.5:c.2356C>G	p.Leu786Val	p.L786V	ENST00000355305		786	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS53431.1	2338	MUTECT|MUSE|VARSCANS	.	CTCCCCTCGCA	NONE	.	.	.	.	.	ENSP00000350876	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.26)	.	tolerated_low_confidence(0.65)	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Leu776Val,ENST00000367731,;DNM3,missense_variant,p.Leu786Val,ENST00000355305,;DNM3,missense_variant,p.Leu149Val,ENST00000485254,;DNM3,missense_variant,p.Leu780Val,ENST00000358155,;PIGC,intron_variant,,ENST00000489002,;PIGC,intron_variant,,ENST00000475059,;PIGC,downstream_gene_variant,,ENST00000484368,;DNM3,non_coding_transcript_exon_variant,,ENST00000491124,;	2514	60	109	SUCCESS
SLC9C2	284525	.	GRCh37	1	173545808	173545808	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	5	49	1	ENST00000367714.3:c.894A>T	p.Val298=	p.V298=	ENST00000367714	NM_178527.3	298	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1308.1	894	MUTECT|MUSE	.	GTAATTACAAG	NONE	.	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110,Pfam_domain:PF00999	.	.	ENSP00000356687	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,synonymous_variant,p.%3D,ENST00000367714,;SLC9C2,synonymous_variant,p.%3D,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	1317	50	82	SUCCESS
TDRD5	163589	.	GRCh37	1	179659883	179659883	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	10	66	0	ENST00000294848.8:c.2751T>C	p.Ala917=	p.A917=	ENST00000294848	NM_173533.3	917	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS55663.1	2913	MUTECT|MUSE	.	CGTGCTATTAC	NONE	.	.	.	.	.	ENSP00000406052	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000417329,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;	3163	66	134	SUCCESS
CACNA1E	777	.	GRCh37	1	181706682	181706682	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	24	157	0	ENST00000367573.2:c.3444C>T	p.Tyr1148=	p.Y1148=	ENST00000367573	NM_001205293.1	1148	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS55664.1	3444	RADIA|MUTECT|MUSE|VARSCANS	.	CACTACATCGT	NONE	.	.	Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;	3444	157	224	SUCCESS
CACNA1E	777	.	GRCh37	1	181724370	181724370	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	34	98	0	ENST00000367573.2:c.3829-3C>T		p.X1277_splice	ENST00000367573	NM_001205293.1	1277		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55664.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACAGGCC	NONE	.	.	.	.	.	ENSP00000356545	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	27/47	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,splice_region_variant,,ENST00000358338,;CACNA1E,splice_region_variant,,ENST00000367567,;CACNA1E,splice_region_variant,,ENST00000357570,;CACNA1E,splice_region_variant,,ENST00000360108,;CACNA1E,splice_region_variant,,ENST00000526775,;CACNA1E,splice_region_variant,,ENST00000367573,;CACNA1E,splice_region_variant,,ENST00000367570,;	.	98	177	SUCCESS
RGSL1	353299	.	GRCh37	1	182442708	182442708	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	56	0	ENST00000294854.8:c.464-2A>G		p.X155_splice	ENST00000294854	NM_001137669.1	155		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58049.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGAGTC	NONE	.	.	.	.	.	ENSP00000457748	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	HIGH	5/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,splice_acceptor_variant,,ENST00000294854,;RGSL1,splice_acceptor_variant,,ENST00000542961,;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,splice_acceptor_variant,,ENST00000443996,;RGSL1,splice_acceptor_variant,,ENST00000367561,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000416676,;RGSL1,upstream_gene_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000444367,;	.	56	121	SUCCESS
RGS8	85397	.	GRCh37	1	182617399	182617399	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	16	108	0	ENST00000367556.1:c.233T>C	p.Phe78Ser	p.F78S	ENST00000367556		78	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS1349.1	287	MUTECT|MUSE|VARSCANS	.	CACTGAACTCC	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF147,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000258302	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000258302	Transcript	.	.	ENSG00000135824	16810	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	RGS8_HUMAN	RGS8	HGNC	.	.	UPI0000038BF1	SNV	RGS8,missense_variant,p.Phe78Ser,ENST00000367557,;RGS8,missense_variant,p.Phe96Ser,ENST00000258302,;RGS8,missense_variant,p.Phe78Ser,ENST00000367556,;RGS8,missense_variant,p.Phe78Ser,ENST00000483095,;RP11-317P15.5,upstream_gene_variant,,ENST00000570153,;	377	108	189	SUCCESS
HMCN1	83872	.	GRCh37	1	186077693	186077693	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	11	67	1	ENST00000271588.4:c.10953T>A	p.Pro3651=	p.P3651=	ENST00000271588	NM_031935.2	3651	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS30956.1	10953	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGTAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	71/107	.	.	.	.	.	.	.	.	.	71/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	11182	68	103	SUCCESS
HMCN1	83872	.	GRCh37	1	186099815	186099815	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs751626751	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	46	0	ENST00000271588.4:c.13216A>T	p.Ile4406Phe	p.I4406F	ENST00000271588	NM_031935.2	4406	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS30956.1	13216	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCATCTAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	85/107	.	.	.	.	.	.	.	.	rs751626751	85/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ile4406Phe,ENST00000367492,;HMCN1,missense_variant,p.Ile4406Phe,ENST00000271588,;	13445	46	88	SUCCESS
PDC	5132	.	GRCh37	1	186413279	186413279	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	11	80	0	ENST00000391997.2:c.573C>A	p.Ile191=	p.I191=	ENST00000391997	NM_002597.4	191	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1370.1	573	MUTECT|MUSE|VARSCANS	.	TTATAGATGAG	NONE	.	.	hmmpanther:PTHR21148:SF17,hmmpanther:PTHR21148,Pfam_domain:PF02114,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00677	.	.	ENSP00000375855	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391997	Transcript	.	.	ENSG00000116703	8759	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHOS_HUMAN	PDC	HGNC	Q9UP23_HUMAN,Q52LP8_HUMAN	.	UPI00001319D2	SNV	PDC,synonymous_variant,p.%3D,ENST00000340129,;PDC,synonymous_variant,p.%3D,ENST00000391997,;PDC,synonymous_variant,p.%3D,ENST00000456239,;PDC,synonymous_variant,p.%3D,ENST00000497198,;	661	80	146	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186880457	186880457	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	219	16	138	0	ENST00000367466.3:c.494T>A	p.Ile165Lys	p.I165K	ENST00000367466	NM_024420.2	165	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS1372.1	494	MUTECT|MUSE	.	ACACATAAGGG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.051)	.	deleterious(0)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Ile165Lys,ENST00000367466,;PLA2G4A,intron_variant,,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	646	138	236	SUCCESS
UCHL5	51377	.	GRCh37	1	192987803	192987803	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	45	0	ENST00000367455.4:c.946-2278T>C		p.*316*	ENST00000367455	NM_015984.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1378.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCATCACA	NONE	.	.	.	.	.	ENSP00000356425	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367455	Transcript	.	.	ENSG00000116750	19678	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCHL5_HUMAN	UCHL5	HGNC	.	.	UPI000013CF2A	SNV	UCHL5,3_prime_UTR_variant,,ENST00000367449,;UCHL5,3_prime_UTR_variant,,ENST00000367448,;UCHL5,3_prime_UTR_variant,,ENST00000443327,;UCHL5,intron_variant,,ENST00000367451,;UCHL5,intron_variant,,ENST00000449480,;UCHL5,intron_variant,,ENST00000420791,;UCHL5,intron_variant,,ENST00000367455,;UCHL5,intron_variant,,ENST00000367450,;UCHL5,intron_variant,,ENST00000367454,;UCHL5,downstream_gene_variant,,ENST00000416915,;UCHL5,downstream_gene_variant,,ENST00000367452,;UCHL5,downstream_gene_variant,,ENST00000421683,;UCHL5,downstream_gene_variant,,ENST00000530098,;	.	45	45	SUCCESS
CRB1	23418	.	GRCh37	1	197403858	197403858	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	13	102	0	ENST00000367400.3:c.2865T>A	p.Asn955Lys	p.N955K	ENST00000367400	NM_201253.2	955	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS1390.1	2865	MUTECT|MUSE|VARSCANS	.	TTTAATGGACA	NONE	.	.	PROSITE_profiles:PS50026,PROSITE_profiles:PS50025,hmmpanther:PTHR24049,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000356370	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.61)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Asn436Lys,ENST00000544212,;CRB1,missense_variant,p.Asn843Lys,ENST00000367399,;CRB1,missense_variant,p.Asn931Lys,ENST00000535699,;CRB1,missense_variant,p.Asn336Lys,ENST00000367397,;CRB1,missense_variant,p.Asn955Lys,ENST00000367400,;CRB1,intron_variant,,ENST00000538660,;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,missense_variant,p.Asn955Lys,ENST00000484075,;	3000	102	150	SUCCESS
IGFN1	91156	.	GRCh37	1	201186436	201186436	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370350044	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	75	0	ENST00000295591.8:c.1097C>T	p.Ala366Val	p.A366V	ENST00000295591		366	gCg/gTg	0	T:0.0002	.	.	.	.	T	A/V	protein_coding	YES	CCDS53455.1	9617	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGCGCCAG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145,PROSITE_profiles:PS50853	.	T:0.0001	ENSP00000334714	.	17/24	.	.	.	.	.	.	.	.	rs370350044	17/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.087)	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,missense_variant,p.Ala366Val,ENST00000295591,;IGFN1,missense_variant,p.Ala624Val,ENST00000412892,;IGFN1,missense_variant,p.Ala3206Val,ENST00000335211,;IGFN1,downstream_gene_variant,,ENST00000451870,;RP11-567E21.3,downstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	9747	75	84	SUCCESS
NAV1	89796	.	GRCh37	1	201757647	201757647	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	11	125	0	ENST00000367296.4:c.3047C>T	p.Pro1016Leu	p.P1016L	ENST00000367296	NM_020443.4	1016	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1414.2	3047	MUTECT|MUSE	.	CATCCCCACCC	NONE	.	.	hmmpanther:PTHR12784:SF3,hmmpanther:PTHR12784	.	.	ENSP00000356265	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000367296	Transcript	.	.	ENSG00000134369	15989	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	NAV1_HUMAN	NAV1	HGNC	.	.	UPI00004562D4	SNV	NAV1,missense_variant,p.Pro1016Leu,ENST00000367297,;NAV1,missense_variant,p.Pro1016Leu,ENST00000295624,;NAV1,missense_variant,p.Pro574Leu,ENST00000430015,;NAV1,missense_variant,p.Pro1016Leu,ENST00000367296,;NAV1,missense_variant,p.Pro625Leu,ENST00000367295,;NAV1,intron_variant,,ENST00000438083,;NAV1,intron_variant,,ENST00000367300,;NAV1,intron_variant,,ENST00000367302,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,non_coding_transcript_exon_variant,,ENST00000490213,;NAV1,non_coding_transcript_exon_variant,,ENST00000469130,;NAV1,3_prime_UTR_variant,,ENST00000477118,;	3467	125	223	SUCCESS
C1orf116	79098	.	GRCh37	1	207198319	207198319	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	6	72	0	ENST00000359470.5:c.196G>A	p.Asp66Asn	p.D66N	ENST00000359470	NM_023938.5	66	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS1475.1	196	MUTECT|MUSE	.	GCTGTCAGCCT	NONE	.	.	Pfam_domain:PF15385,hmmpanther:PTHR21555:SF0,hmmpanther:PTHR21555	.	.	ENSP00000352447	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000359470	Transcript	.	.	ENSG00000182795	28667	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	SARG_HUMAN	C1orf116	HGNC	.	.	UPI000013E1EF	SNV	C1orf116,missense_variant,p.Asp66Asn,ENST00000359470,;C1orf116,5_prime_UTR_variant,,ENST00000461135,;	446	72	150	SUCCESS
CDA	978	.	GRCh37	1	20940334	20940334	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	127	0	ENST00000375071.3:c.267-1G>A		p.X89_splice	ENST00000375071	NM_001785.2	89		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS210.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGTGACA	NONE	.	.	.	.	.	ENSP00000364212	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375071	Transcript	.	.	ENSG00000158825	1712	.	.	HIGH	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDD_HUMAN	CDA	HGNC	Q71UE9_HUMAN	.	UPI0000127406	SNV	CDA,splice_acceptor_variant,,ENST00000375071,;CDA,intron_variant,,ENST00000461985,;	.	127	97	SUCCESS
KCNH1	3756	.	GRCh37	1	211093070	211093070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	403	22	225	0	ENST00000271751.4:c.1374G>T	p.Met458Ile	p.M458I	ENST00000271751		458	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1496.1	1374	MUTECT|MUSE	.	CTGGTCATTGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01463	.	.	ENSP00000271751	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.408)	.	deleterious(0.02)	.	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Met431Ile,ENST00000367007,;KCNH1,missense_variant,p.Met458Ile,ENST00000271751,;	1402	225	425	SUCCESS
USH2A	7399	.	GRCh37	1	216172333	216172333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	17	101	0	ENST00000307340.3:c.6553C>A	p.His2185Asn	p.H2185N	ENST00000307340	NM_206933.2	2185	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS31025.1	6553	MUTECT|MUSE	.	ATCATGTGTAT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	34/72	.	.	.	.	.	.	.	.	.	34/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.His2185Asn,ENST00000366943,;USH2A,missense_variant,p.His2185Asn,ENST00000307340,;	6940	101	202	SUCCESS
USH2A	7399	.	GRCh37	1	216595680	216595680	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	8	67	0	ENST00000307340.3:c.-2A>G		p.*1*	ENST00000307340	NM_206933.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31025.1	.	MUTECT|MUSE	.	TCATGTTTACA	NONE	.	.	.	.	.	ENSP00000305941	.	2/72	.	.	.	.	.	.	.	.	.	2/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,5_prime_UTR_variant,,ENST00000366942,;USH2A,5_prime_UTR_variant,,ENST00000366943,;USH2A,5_prime_UTR_variant,,ENST00000307340,;	386	67	147	SUCCESS
ESRRG	2104	.	GRCh37	1	216850694	216850694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	528	49	338	0	ENST00000408911.3:c.196G>A	p.Gly66Arg	p.G66R	ENST00000408911	NM_001438.3	66	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS58061.1	211	MUTECT|MUSE|VARSCANS	.	GCTCCCACTGG	NONE	.	.	PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,hmmpanther:PTHR24084,Low_complexity_(Seg):seg	.	.	ENSP00000355904	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000366937	Transcript	.	.	ENSG00000196482	3474	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.9)	.	deleterious(0.05)	.	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,missense_variant,p.Gly43Arg,ENST00000481543,;ESRRG,missense_variant,p.Gly43Arg,ENST00000487276,;ESRRG,missense_variant,p.Gly43Arg,ENST00000366938,;ESRRG,missense_variant,p.Gly43Arg,ENST00000459955,;ESRRG,missense_variant,p.Gly43Arg,ENST00000360012,;ESRRG,missense_variant,p.Gly43Arg,ENST00000469486,;ESRRG,missense_variant,p.Gly66Arg,ENST00000408911,;ESRRG,missense_variant,p.Gly43Arg,ENST00000366940,;ESRRG,missense_variant,p.Gly43Arg,ENST00000361525,;ESRRG,missense_variant,p.Gly43Arg,ENST00000359162,;ESRRG,missense_variant,p.Gly43Arg,ENST00000493603,;ESRRG,missense_variant,p.Gly43Arg,ENST00000493748,;ESRRG,missense_variant,p.Gly43Arg,ENST00000391890,;ESRRG,missense_variant,p.Gly43Arg,ENST00000475275,;ESRRG,missense_variant,p.Gly43Arg,ENST00000463665,;ESRRG,missense_variant,p.Gly71Arg,ENST00000366937,;ESRRG,missense_variant,p.Gly43Arg,ENST00000361395,;ESRRG,intron_variant,,ENST00000586199,;	478	339	577	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220387288	220387288	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	25	127	0	ENST00000358951.2:c.214A>G	p.Thr72Ala	p.T72A	ENST00000358951	NM_012414.3	72	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31028.1	214	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTTTTTT	NONE	.	.	hmmpanther:PTHR12472	.	.	ENSP00000351832	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.77)	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,missense_variant,p.Thr72Ala,ENST00000358951,;RAB3GAP2,upstream_gene_variant,,ENST00000484658,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,intron_variant,,ENST00000474178,;RAB3GAP2,intron_variant,,ENST00000237724,;	331	127	251	SUCCESS
MIA3	375056	.	GRCh37	1	222822189	222822189	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	9	51	0	ENST00000344922.5:c.3628C>T	p.Gln1210Ter	p.Q1210*	ENST00000344922	NM_198551.2	1210	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS41470.1	3628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATCAAGGT	NONE	.	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	.	ENSP00000340900	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,stop_gained,p.Gln793Ter,ENST00000354906,;MIA3,stop_gained,p.Gln1210Ter,ENST00000344922,;MIA3,stop_gained,p.Gln88Ter,ENST00000340535,;MIA3,intron_variant,,ENST00000344441,;MIA3,intron_variant,,ENST00000344507,;MIA3,intron_variant,,ENST00000495210,;MIA3,downstream_gene_variant,,ENST00000470521,;MIA3,upstream_gene_variant,,ENST00000467190,;	3653	51	66	SUCCESS
C1orf65	0	.	GRCh37	1	223567373	223567373	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	383	45	222	0	ENST00000366875.3:c.556T>A	p.Ser186Thr	p.S186T	ENST00000366875	NM_152610.2	186	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1537.1	556	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTTCCTCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.922)	.	tolerated(0.19)	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,missense_variant,p.Ser186Thr,ENST00000366875,;	659	222	428	SUCCESS
GNPAT	8443	.	GRCh37	1	231411879	231411879	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	254	25	163	0	ENST00000366647.4:c.1938-2A>G		p.X646_splice	ENST00000366647	NM_014236.3	646		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1592.1	.	MUTECT|MUSE|VARSCANS	.	CTCCTAGAAAT	NONE	.	.	.	.	.	ENSP00000355607	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366647	Transcript	.	.	ENSG00000116906	4416	.	.	HIGH	14/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GNPAT_HUMAN	GNPAT	HGNC	Q71V38_HUMAN	.	UPI0000000A2A	SNV	GNPAT,splice_acceptor_variant,,ENST00000366646,;GNPAT,splice_acceptor_variant,,ENST00000366647,;GNPAT,downstream_gene_variant,,ENST00000416000,;GNPAT,splice_acceptor_variant,,ENST00000469332,;	.	163	280	SUCCESS
HTR1D	3352	.	GRCh37	1	23519871	23519871	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	89	0	ENST00000374619.1:c.842T>A	p.Leu281His	p.L281H	ENST00000374619	NM_000864.4	281	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS231.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAAGCTTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF17,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10	.	.	ENSP00000363748	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374619	Transcript	.	.	ENSG00000179546	5289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.26)	.	5HT1D_HUMAN	HTR1D	HGNC	.	.	UPI00000503DE	SNV	HTR1D,missense_variant,p.Leu281His,ENST00000314113,;HTR1D,missense_variant,p.Leu281His,ENST00000374619,;	1352	89	55	SUCCESS
RYR2	6262	.	GRCh37	1	237713919	237713919	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1384422533	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	44	162	0	ENST00000366574.2:c.3142G>A	p.Asp1048Asn	p.D1048N	ENST00000366574	NM_001035.2	1048	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55691.1	3142	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGGACAGC	NONE	.	.	Pfam_domain:PF02026,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000355533	.	27/105	.	.	.	.	.	.	.	.	.	27/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.953)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Asp1032Asn,ENST00000542537,;RYR2,missense_variant,p.Asp1048Asn,ENST00000366574,;RYR2,missense_variant,p.Asp1046Asn,ENST00000360064,;SNORA25,downstream_gene_variant,,ENST00000516481,;	3459	162	320	SUCCESS
RYR2	6262	.	GRCh37	1	237982484	237982484	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	11	114	0	ENST00000366574.2:c.14582T>C	p.Ile4861Thr	p.I4861T	ENST00000366574	NM_001035.2	4861	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS55691.1	14582	MUTECT|MUSE	.	GGCCATAATAC	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000355533	.	101/105	.	.	.	.	.	.	.	.	.	101/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.803)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ile4845Thr,ENST00000542537,;RYR2,missense_variant,p.Ile4861Thr,ENST00000366574,;RYR2,missense_variant,p.Ile4867Thr,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	14899	114	191	SUCCESS
RGS7	6000	.	GRCh37	1	240966242	240966242	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	9	66	0	ENST00000366565.1:c.1321T>A	p.Ser441Thr	p.S441T	ENST00000366565	NM_002924.4	441	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS31071.1	1321	MUTECT|MUSE	.	ACTGGATCTTA	NONE	.	.	Prints_domain:PR01301,Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,PROSITE_profiles:PS50132	.	.	ENSP00000355523	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000366565	Transcript	.	.	ENSG00000182901	10003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	RGS7_HUMAN	RGS7	HGNC	.	.	UPI000040E182	SNV	RGS7,missense_variant,p.Ser272Thr,ENST00000440928,;RGS7,missense_variant,p.Ser415Thr,ENST00000331110,;RGS7,missense_variant,p.Ser357Thr,ENST00000446183,;RGS7,missense_variant,p.Ser388Thr,ENST00000401882,;RGS7,missense_variant,p.Ser441Thr,ENST00000366564,;RGS7,missense_variant,p.Ser441Thr,ENST00000366565,;RGS7,missense_variant,p.Ser441Thr,ENST00000366562,;RGS7,missense_variant,p.Ser441Thr,ENST00000407727,;RGS7,missense_variant,p.Ser441Thr,ENST00000366563,;RGS7,missense_variant,p.Ser388Thr,ENST00000348120,;	1703	66	127	SUCCESS
OR2L2	26246	.	GRCh37	1	248202311	248202311	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767833645	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	388	37	211	0	ENST00000366479.2:c.742T>C	p.Ser248Pro	p.S248P	ENST00000366479	NM_001004686.2	248	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31103.1	742	MUTECT|MUSE|VARSCANS	.	TAGTGTCCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000355435	.	1/1	.	.	.	.	.	.	.	.	rs767833645	1/1	PASS	ENST00000366479	Transcript	.	.	ENSG00000203663	8266	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.427)	.	deleterious(0.01)	.	OR2L2_HUMAN	OR2L2	HGNC	.	.	UPI0000061EAA	SNV	OR2L2,missense_variant,p.Ser248Pro,ENST00000366479,;OR2L13,intron_variant,,ENST00000366478,;	838	211	425	SUCCESS
OR2T1	26696	.	GRCh37	1	248569623	248569623	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	289	31	171	0	ENST00000366474.1:c.328T>A	p.Tyr110Asn	p.Y110N	ENST00000366474	NM_030904.1	110	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS31115.1	328	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTACTTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF125,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355430	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366474	Transcript	.	.	ENSG00000175143	8277	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	OR2T1_HUMAN	OR2T1	HGNC	.	.	UPI00003B2872	SNV	OR2T1,missense_variant,p.Tyr110Asn,ENST00000366474,;	328	171	320	SUCCESS
OR2G6	391211	.	GRCh37	1	248685435	248685435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	390	32	220	0	ENST00000343414.4:c.488C>A	p.Thr163Asn	p.T163N	ENST00000343414	NM_001013355.1	163	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS31119.1	488	MUTECT|MUSE	.	CCTCACTGTGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,missense_variant,p.Thr163Asn,ENST00000343414,;	520	220	422	SUCCESS
OR2T34	127068	.	GRCh37	1	248737675	248737675	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	755	67	520	0	ENST00000328782.2:c.384T>G	p.Tyr128Ter	p.Y128*	ENST00000328782	NM_001001821.1	128	taT/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS31120.1	384	MUTECT|MUSE|VARSCANS	.	GCAGCATATCG	BUFFER|p.C132Y|c.395G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330904	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328782	Transcript	.	.	ENSG00000183310	31256	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O2T34_HUMAN	OR2T34	HGNC	.	.	UPI0000061ED4	SNV	OR2T34,stop_gained,p.Tyr128Ter,ENST00000328782,;	406	521	822	SUCCESS
OR2T10	127069	.	GRCh37	1	248756804	248756804	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	29	140	1	ENST00000330500.2:c.266A>G	p.Asp89Gly	p.D89G	ENST00000330500	NM_001004693.1	89	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS31121.1	266	RADIA|VARSCANS	.	TCTTGTCTTTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000329210	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330500	Transcript	.	.	ENSG00000184022	19573	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.32)	.	O2T10_HUMAN	OR2T10	HGNC	.	.	UPI000004F23B	SNV	OR2T10,missense_variant,p.Asp89Gly,ENST00000330500,;Y_RNA,downstream_gene_variant,,ENST00000364732,;	297	141	277	SUCCESS
FGR	2268	.	GRCh37	1	27950548	27950548	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	29	0	ENST00000374003.3:c.-13-108A>T		p.*5*	ENST00000374003	NM_001042729.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS305.1	.	RADIA|MUTECT|MUSE	.	TTCCCTCTTGG	NONE	.	.	.	.	.	ENSP00000363117	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	MODIFIER	2/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,5_prime_UTR_variant,,ENST00000374004,;FGR,intron_variant,,ENST00000374003,;FGR,intron_variant,,ENST00000457296,;FGR,intron_variant,,ENST00000545953,;FGR,intron_variant,,ENST00000399173,;FGR,intron_variant,,ENST00000374005,;FGR,intron_variant,,ENST00000468038,;FGR,intron_variant,,ENST00000475472,;	.	29	13	SUCCESS
HMGB4	127540	.	GRCh37	1	34330001	34330001	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769598918	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	108	0	ENST00000519684.1:c.209G>A	p.Arg70Gln	p.R70Q	ENST00000519684	NM_145205.4	70	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS30668.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGATACC	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF152,Gene3D:1.10.30.10,Pfam_domain:PF09011,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000430919	.	4/4	.	.	.	.	.	.	.	.	rs769598918,COSM1687419	4/4	PASS	ENST00000522796	Transcript	.	.	ENSG00000176256	24954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.744)	.	tolerated(0.05)	0,1	HMGB4_HUMAN	HMGB4	HGNC	.	.	UPI000011E2F1	SNV	HMGB4,missense_variant,p.Arg70Gln,ENST00000522796,;HMGB4,missense_variant,p.Arg70Gln,ENST00000519684,;CSMD2,intron_variant,,ENST00000373381,;RP5-1007G16.1,upstream_gene_variant,,ENST00000425631,;HMGB4,non_coding_transcript_exon_variant,,ENST00000425537,;HMGB4,downstream_gene_variant,,ENST00000458277,;CSMD2,intron_variant,,ENST00000241312,;	2114	108	79	SUCCESS
C1orf94	84970	.	GRCh37	1	34667800	34667800	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	45	283	0	ENST00000488417.1:c.1386C>T	p.Leu462=	p.L462=	ENST00000488417	NM_001134734.1	462	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44108.1	1386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCAACCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000435634	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,synonymous_variant,p.%3D,ENST00000488417,;C1orf94,synonymous_variant,p.%3D,ENST00000373374,;	1506	283	197	SUCCESS
GNL2	29889	.	GRCh37	1	38033329	38033329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	21	133	0	ENST00000373062.3:c.1988G>A	p.Arg663Lys	p.R663K	ENST00000373062	NM_013285.2	663	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS421.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCTTTGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000362153	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000373062	Transcript	.	.	ENSG00000134697	29925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.67)	.	NOG2_HUMAN	GNL2	HGNC	Q5T0F3_HUMAN	.	UPI0000000C9E	SNV	GNL2,missense_variant,p.Arg663Lys,ENST00000373062,;DNALI1,downstream_gene_variant,,ENST00000541606,;DNALI1,downstream_gene_variant,,ENST00000296218,;GNL2,non_coding_transcript_exon_variant,,ENST00000462812,;GNL2,non_coding_transcript_exon_variant,,ENST00000479255,;GNL2,non_coding_transcript_exon_variant,,ENST00000490029,;DNALI1,downstream_gene_variant,,ENST00000467277,;DNALI1,downstream_gene_variant,,ENST00000497858,;	2087	133	106	SUCCESS
C1orf228	0	.	GRCh37	1	45163762	45163762	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	15	127	0	ENST00000458657.2:c.303G>A	p.Glu101=	p.E101=	ENST00000458657		101	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS53311.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAGGTTGG	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000420716	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000458657	Transcript	.	.	ENSG00000198520	34345	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA228_HUMAN	C1orf228	HGNC	F8WDG2_HUMAN,C9JCY2_HUMAN,C9JA22_HUMAN,C9J579_HUMAN,C9J477_HUMAN	.	UPI0000EE3082	SNV	C1orf228,synonymous_variant,p.%3D,ENST00000535358,;C1orf228,synonymous_variant,p.%3D,ENST00000418644,;C1orf228,synonymous_variant,p.%3D,ENST00000441519,;C1orf228,synonymous_variant,p.%3D,ENST00000445071,;C1orf228,synonymous_variant,p.%3D,ENST00000458657,;C1orf228,intron_variant,,ENST00000434068,;C1orf228,downstream_gene_variant,,ENST00000453711,;C1orf228,intron_variant,,ENST00000444751,;C1orf228,intron_variant,,ENST00000421398,;C1orf228,upstream_gene_variant,,ENST00000434520,;C1orf228,3_prime_UTR_variant,,ENST00000455805,;C1orf228,non_coding_transcript_exon_variant,,ENST00000357508,;C1orf228,intron_variant,,ENST00000424484,;	610	127	89	SUCCESS
LEPR	3953	.	GRCh37	1	66102182	66102182	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	52	0	ENST00000349533.6:c.2982A>G	p.Lys994=	p.K994=	ENST00000349533	NM_002303.5	994	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS631.1	2982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAAACCAAG	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF11	.	.	ENSP00000330393	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000349533	Transcript	.	.	ENSG00000116678	6554	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEPR_HUMAN	LEPR	HGNC	L0I9J6_HUMAN,A2RRQ4_HUMAN	.	UPI000014C37B	SNV	LEPR,synonymous_variant,p.%3D,ENST00000349533,;LEPR,synonymous_variant,p.%3D,ENST00000406510,;LEPR,downstream_gene_variant,,ENST00000371060,;	3167	52	35	SUCCESS
MIER1	57708	.	GRCh37	1	67436586	67436586	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	123	0	ENST00000355356.3:c.709G>A	p.Asp237Asn	p.D237N	ENST00000355356	NM_001077701.2	237	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS53326.1	868	MUTECT|MUSE	.	CAGGTGATGAG	NONE	.	.	PROSITE_profiles:PS51156,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24	.	.	ENSP00000383820	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.821)	.	tolerated(0.3)	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	SNV	MIER1,missense_variant,p.Asp237Asn,ENST00000355356,;MIER1,missense_variant,p.Asp174Asn,ENST00000355977,;MIER1,missense_variant,p.Asp237Asn,ENST00000401042,;MIER1,missense_variant,p.Asp254Asn,ENST00000371018,;MIER1,missense_variant,p.Asp290Asn,ENST00000371014,;MIER1,missense_variant,p.Asp290Asn,ENST00000401041,;MIER1,missense_variant,p.Asp254Asn,ENST00000371016,;MIER1,missense_variant,p.Asp254Asn,ENST00000357692,;	938	123	69	SUCCESS
ZNHIT6	54680	.	GRCh37	1	86123530	86123530	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs139368369	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	49	0	ENST00000370574.3:c.1372G>T	p.Val458Leu	p.V458L	ENST00000370574		458	Gtg/Ttg	0	A:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS707.1	1372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTTGGT	NONE	byCluster	.	.	.	A:0.0001	ENSP00000359606	.	9/10	.	.	.	.	.	.	.	.	rs139368369	9/10	PASS	ENST00000370574	Transcript	.	.	ENSG00000117174	26089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.29)	.	BCD1_HUMAN	ZNHIT6	HGNC	.	.	UPI000006D8D2	SNV	ZNHIT6,missense_variant,p.Val419Leu,ENST00000431532,;ZNHIT6,missense_variant,p.Val458Leu,ENST00000370574,;	1506	49	50	SUCCESS
RPAP2	79871	.	GRCh37	1	92789745	92789745	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1489823796	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	100	0	ENST00000610020.1:c.1268G>A	p.Trp423Ter	p.W423*	ENST00000610020	NM_024813.2	423	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS740.1	1268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGAGGG	NONE	.	.	hmmpanther:PTHR14732:SF0,hmmpanther:PTHR14732	.	.	ENSP00000476948	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000610020	Transcript	.	.	ENSG00000122484	25791	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPAP2_HUMAN	RPAP2	HGNC	.	.	UPI0000074323	SNV	RPAP2,stop_gained,p.Trp423Ter,ENST00000610020,;RPAP2,downstream_gene_variant,,ENST00000484158,;	1377	100	71	SUCCESS
ABCA4	24	.	GRCh37	1	94495183	94495183	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	49	0	ENST00000370225.3:c.4357T>A	p.Tyr1453Asn	p.Y1453N	ENST00000370225	NM_000350.2	1453	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS747.1	4357	MUTECT|MUSE	.	GGGGTACTCCC	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	30/50	.	.	.	.	.	.	.	.	.	30/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.361)	.	tolerated(0.24)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Tyr1453Asn,ENST00000370225,;ABCA4,upstream_gene_variant,,ENST00000460514,;	4444	49	28	SUCCESS
RRBP1	6238	.	GRCh37	20	17616198	17616198	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	60	0	ENST00000377807.2:c.1150G>T	p.Glu384Ter	p.E384*	ENST00000377807	NM_001042576.1	384	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS13128.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCACCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939	.	.	ENSP00000367038	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000377807	Transcript	.	.	ENSG00000125844	10448	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRBP1_HUMAN	RRBP1	HGNC	F8W7S5_HUMAN	.	UPI000002B2C0	SNV	RRBP1,stop_gained,p.Glu817Ter,ENST00000246043,;RRBP1,stop_gained,p.Glu384Ter,ENST00000360807,;RRBP1,stop_gained,p.Glu817Ter,ENST00000377813,;RRBP1,stop_gained,p.Glu158Ter,ENST00000455029,;RRBP1,stop_gained,p.Glu384Ter,ENST00000377807,;RRBP1,intron_variant,,ENST00000495501,;	1504	60	64	SUCCESS
THBD	7056	.	GRCh37	20	23028767	23028767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	18	112	0	ENST00000377103.2:c.1375C>T	p.Pro459Ser	p.P459S	ENST00000377103	NM_000361.2	459	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS13148.1	1375	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGGGAGGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24036,hmmpanther:PTHR24036:SF5,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,Superfamily_domains:SSF57196,Prints_domain:PR00907	.	.	ENSP00000366307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377103	Transcript	1	.	ENSG00000178726	11784	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.906)	.	deleterious(0.01)	.	TRBM_HUMAN	THBD	HGNC	.	.	UPI00000002BD	SNV	THBD,missense_variant,p.Pro459Ser,ENST00000377103,;	1612	112	118	SUCCESS
CEP250	11190	.	GRCh37	20	34090341	34090341	+	synonymous_variant	Silent	SNP	A	A	C	rs151254784	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	25	125	0	ENST00000397527.1:c.4144A>C	p.Arg1382=	p.R1382=	ENST00000397527	NM_007186.3	1382	Aga/Cga	0	C:0.0005	.	.	.	.	C	R	protein_coding	YES	CCDS13255.1	4144	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGAGAACG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	C:0	ENSP00000380661	.	30/35	.	.	.	.	.	.	.	.	rs151254784	30/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,synonymous_variant,p.%3D,ENST00000342580,;CEP250,synonymous_variant,p.%3D,ENST00000397527,;CEP250,upstream_gene_variant,,ENST00000422671,;CEP250,3_prime_UTR_variant,,ENST00000425525,;	4864	125	157	SUCCESS
TGIF2-C20orf24	0	.	GRCh37	20	35238002	35238002	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	24	172	0	ENST00000558530.1:c.297-2A>T		p.X99_splice	ENST00000558530	NM_001199535.1	99		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13279.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGATTC	NONE	.	.	.	.	.	ENSP00000341213	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342422	Transcript	.	.	ENSG00000101084	15870	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CT024_HUMAN	C20orf24	HGNC	Q9BZT8_HUMAN	.	UPI00002371AB	SNV	C20orf24,splice_acceptor_variant,,ENST00000344795,;TGIF2-C20orf24,splice_acceptor_variant,,ENST00000558530,;C20orf24,splice_acceptor_variant,,ENST00000373852,;C20orf24,intron_variant,,ENST00000342422,;SLA2,downstream_gene_variant,,ENST00000360672,;SLA2,downstream_gene_variant,,ENST00000262866,;C20orf24,splice_acceptor_variant,,ENST00000494506,;C20orf24,splice_acceptor_variant,,ENST00000483815,;C20orf24,intron_variant,,ENST00000492721,;C20orf24,downstream_gene_variant,,ENST00000491113,;	.	172	212	SUCCESS
ZHX3	23051	.	GRCh37	20	39833219	39833219	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	80	0	ENST00000309060.3:c.338G>A	p.Gly113Glu	p.G113E	ENST00000309060		113	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS13315.1	338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACCCACTG	NONE	.	.	hmmpanther:PTHR15467:SF6,hmmpanther:PTHR15467,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000312222	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000309060	Transcript	.	.	ENSG00000174306	15935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ZHX3_HUMAN	ZHX3	HGNC	H0YMK8_HUMAN,F6YD28_HUMAN,F6XGA7_HUMAN,F6UQN6_HUMAN,F6UBH9_HUMAN,F6S7L4_HUMAN	.	UPI000000D72C	SNV	ZHX3,missense_variant,p.Gly113Glu,ENST00000540170,;ZHX3,missense_variant,p.Gly113Glu,ENST00000432768,;ZHX3,missense_variant,p.Gly113Glu,ENST00000559234,;ZHX3,missense_variant,p.Gly113Glu,ENST00000558993,;ZHX3,missense_variant,p.Gly113Glu,ENST00000544979,;ZHX3,missense_variant,p.Gly113Glu,ENST00000309060,;ZHX3,missense_variant,p.Gly113Glu,ENST00000441102,;ZHX3,missense_variant,p.Gly113Glu,ENST00000557816,;ZHX3,missense_variant,p.Gly113Glu,ENST00000560361,;ZHX3,downstream_gene_variant,,ENST00000436099,;ZHX3,downstream_gene_variant,,ENST00000419740,;ZHX3,downstream_gene_variant,,ENST00000373261,;ZHX3,downstream_gene_variant,,ENST00000436440,;ZHX3,upstream_gene_variant,,ENST00000559436,;ZHX3,upstream_gene_variant,,ENST00000421422,;ZHX3,missense_variant,p.Gly113Glu,ENST00000560364,;	754	80	90	SUCCESS
PABPC1L	80336	.	GRCh37	20	43566743	43566743	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	34	128	0	ENST00000217073.2:c.1687C>G	p.Leu563Val	p.L563V	ENST00000217073		563	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS42878.1	1687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCTGGCT	NONE	.	.	PROSITE_profiles:PS51309,hmmpanther:PTHR24011:SF230,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628,Gene3D:1.10.1900.10,Pfam_domain:PF00658,SMART_domains:SM00517,Superfamily_domains:SSF63570	.	.	ENSP00000255136	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000255136	Transcript	.	.	ENSG00000101104	15797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	PAP1L_HUMAN	PABPC1L	HGNC	Q4VXT4_HUMAN	.	UPI00005190DD	SNV	PABPC1L,missense_variant,p.Leu563Val,ENST00000255136,;PABPC1L,missense_variant,p.Ser85Arg,ENST00000372822,;PABPC1L,missense_variant,p.Leu117Val,ENST00000372819,;PABPC1L,missense_variant,p.Leu99Val,ENST00000372826,;PABPC1L,missense_variant,p.Leu117Val,ENST00000372824,;PABPC1L,missense_variant,p.Leu563Val,ENST00000217073,;PABPC1L,missense_variant,p.Leu117Val,ENST00000217075,;PABPC1L,3_prime_UTR_variant,,ENST00000537323,;TOMM34,downstream_gene_variant,,ENST00000372813,;PABPC1L,splice_region_variant,,ENST00000474208,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000489068,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000482486,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000476056,;PABPC1L,intron_variant,,ENST00000490798,;PABPC1L,downstream_gene_variant,,ENST00000465761,;PABPC1L,missense_variant,p.Ser144Arg,ENST00000479873,;	1769	128	182	SUCCESS
SLC13A3	64849	.	GRCh37	20	45204256	45204256	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	20	105	1	ENST00000279027.4:c.1288A>T	p.Ile430Phe	p.I430F	ENST00000279027	NM_001193342.1	430	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS13400.1	1288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATGATGT	NONE	.	.	hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939	.	.	ENSP00000279027	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000279027	Transcript	.	.	ENSG00000158296	14430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	S13A3_HUMAN	SLC13A3	HGNC	F6WI18_HUMAN,C9J7L4_HUMAN	.	UPI000013542F	SNV	SLC13A3,missense_variant,p.Ile348Phe,ENST00000472148,;SLC13A3,missense_variant,p.Ile383Phe,ENST00000468915,;SLC13A3,missense_variant,p.Ile380Phe,ENST00000413164,;SLC13A3,missense_variant,p.Ile348Phe,ENST00000396360,;SLC13A3,missense_variant,p.Ile383Phe,ENST00000495082,;SLC13A3,missense_variant,p.Ile430Phe,ENST00000279027,;SLC13A3,missense_variant,p.Ile383Phe,ENST00000290317,;SLC13A3,intron_variant,,ENST00000435032,;	1307	106	105	SUCCESS
FAM65C	0	.	GRCh37	20	49212742	49212742	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	18	98	0	ENST00000327979.2:c.1837G>A	p.Ala613Thr	p.A613T	ENST00000327979		613	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13431.2	1837	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGCTGTGA	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.63)	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Ala613Thr,ENST00000327979,;FAM65C,missense_variant,p.Ala617Thr,ENST00000535356,;FAM65C,missense_variant,p.Ala613Thr,ENST00000045083,;FAM65C,non_coding_transcript_exon_variant,,ENST00000488529,;FAM65C,upstream_gene_variant,,ENST00000482129,;FAM65C,downstream_gene_variant,,ENST00000462493,;	2249	98	132	SUCCESS
SYCP2	10388	.	GRCh37	20	58489028	58489028	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	19	76	0	ENST00000357552.3:c.830+2T>C		p.X277_splice	ENST00000357552		277		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTACCTTC	NONE	.	.	.	.	.	ENSP00000350162	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	HIGH	12/44	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,splice_donor_variant,,ENST00000446834,;SYCP2,splice_donor_variant,,ENST00000357552,;SYCP2,splice_donor_variant,,ENST00000371001,;SYCP2,splice_donor_variant,,ENST00000471331,;SYCP2,upstream_gene_variant,,ENST00000461538,;	.	76	116	SUCCESS
TCFL5	10732	.	GRCh37	20	61488865	61488865	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1302597823	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	16	110	0	ENST00000335351.3:c.1120G>A	p.Gly374Ser	p.G374S	ENST00000335351	NM_006602.2	374	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13506.1	1120	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCCTTGTG	NONE	.	.	hmmpanther:PTHR15402,hmmpanther:PTHR15402:SF2	.	.	ENSP00000334294	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000335351	Transcript	.	.	ENSG00000101190	11646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.437)	.	tolerated(0.08)	.	TCFL5_HUMAN	TCFL5	HGNC	.	.	UPI0000206389	SNV	TCFL5,missense_variant,p.Gly326Ser,ENST00000217162,;TCFL5,missense_variant,p.Gly374Ser,ENST00000335351,;	1213	110	157	SUCCESS
LIPI	149998	.	GRCh37	21	15579225	15579225	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773619059	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	44	0	ENST00000344577.2:c.20A>G	p.His7Arg	p.H7R	ENST00000344577	NM_198996.2	7	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS13564.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTATGTAAA	NONE	byFrequency	.	.	.	.	ENSP00000343331	.	1/10	.	.	.	.	.	.	.	.	rs773619059	1/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.36)	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,missense_variant,p.His7Arg,ENST00000344577,;LIPI,intron_variant,,ENST00000536861,;	46	44	50	SUCCESS
TIAM1	7074	.	GRCh37	21	32638540	32638540	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	103	0	ENST00000286827.3:c.749G>T	p.Gly250Val	p.G250V	ENST00000286827	NM_003253.2	250	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13609.1	749	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCCCGGC	NONE	.	.	hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826	.	.	ENSP00000286827	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000286827	Transcript	.	.	ENSG00000156299	11805	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.28)	.	TIAM1_HUMAN	TIAM1	HGNC	C9JMB5_HUMAN	.	UPI000013DE6F	SNV	TIAM1,missense_variant,p.Gly250Val,ENST00000286827,;TIAM1,missense_variant,p.Gly250Val,ENST00000541036,;TIAM1,downstream_gene_variant,,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	1221	103	64	SUCCESS
AIRE	326	.	GRCh37	21	45709596	45709596	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778067704	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	134	0	ENST00000291582.5:c.709G>A	p.Glu237Lys	p.E237K	ENST00000291582	NM_000383.3	237	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13706.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCGAAGAC	NONE	.	.	PROSITE_profiles:PS50864,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15,Pfam_domain:PF01342,Gene3D:3.10.390.10,SMART_domains:SM00258,Superfamily_domains:SSF63763,Prints_domain:PR01711	.	.	ENSP00000291582	.	6/14	.	.	.	.	.	.	.	.	rs778067704,COSM1031243	6/14	PASS	ENST00000291582	Transcript	.	.	ENSG00000160224	360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.958)	.	deleterious(0.02)	0,1	AIRE_HUMAN	AIRE	HGNC	.	.	UPI0000030FA6	SNV	AIRE,missense_variant,p.Glu237Lys,ENST00000291582,;AIRE,upstream_gene_variant,,ENST00000329347,;AIRE,upstream_gene_variant,,ENST00000355347,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,upstream_gene_variant,,ENST00000337909,;AIRE,upstream_gene_variant,,ENST00000397994,;	836	135	115	SUCCESS
PCNT	5116	.	GRCh37	21	47754602	47754602	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1301050198	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	33	280	0	ENST00000359568.5:c.559G>T	p.Val187Phe	p.V187F	ENST00000359568	NM_006031.5	187	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33592.1	559	RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGTCAGT	NONE	.	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	3/47	.	.	.	.	.	.	.	.	.	3/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Val187Phe,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,;	666	280	287	SUCCESS
DIP2A	23181	.	GRCh37	21	47931358	47931358	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	89	0	ENST00000417564.2:c.933G>A	p.Lys311=	p.K311=	ENST00000417564		311	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS46655.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAGCCTGA	NONE	.	.	hmmpanther:PTHR22754:SF24,hmmpanther:PTHR22754	.	.	ENSP00000392066	.	8/38	.	.	.	.	.	.	.	.	.	8/38	PASS	ENST00000417564	Transcript	.	.	ENSG00000160305	17217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIP2A_HUMAN	DIP2A	HGNC	Q9NSX6_HUMAN,Q96NX2_HUMAN	.	UPI00001B2E47	SNV	DIP2A,synonymous_variant,p.%3D,ENST00000427143,;DIP2A,synonymous_variant,p.%3D,ENST00000318711,;DIP2A,synonymous_variant,p.%3D,ENST00000435722,;DIP2A,synonymous_variant,p.%3D,ENST00000400274,;DIP2A,synonymous_variant,p.%3D,ENST00000457905,;DIP2A,synonymous_variant,p.%3D,ENST00000417564,;DIP2A,synonymous_variant,p.%3D,ENST00000466639,;DIP2A,non_coding_transcript_exon_variant,,ENST00000473752,;DIP2A,non_coding_transcript_exon_variant,,ENST00000494435,;	954	89	89	SUCCESS
MICAL3	57553	.	GRCh37	22	18347690	18347690	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	26	120	0	ENST00000441493.2:c.2580G>A	p.Val860=	p.V860=	ENST00000441493	NM_015241.2	860	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46659.1	2580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCACGGC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000207726,;MICAL3,synonymous_variant,p.%3D,ENST00000444520,;MICAL3,synonymous_variant,p.%3D,ENST00000383094,;MICAL3,synonymous_variant,p.%3D,ENST00000414725,;MICAL3,synonymous_variant,p.%3D,ENST00000461307,;MICAL3,synonymous_variant,p.%3D,ENST00000585038,;MICAL3,synonymous_variant,p.%3D,ENST00000429452,;MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,synonymous_variant,p.%3D,ENST00000400561,;MICAL3,downstream_gene_variant,,ENST00000462645,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;	2933	120	137	SUCCESS
MYO18B	84700	.	GRCh37	22	26422979	26422979	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs572116317	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	34	1	ENST00000536101.1:c.7039C>A	p.Gln2347Lys	p.Q2347K	ENST00000536101		2347	Caa/Aaa	0	.	T:0	.	T:0	.	A	Q/K	protein_coding	YES	CCDS54507.1	7039	SOMATICSNIPER|VARSCANS	.	AAACCCAATTC	NONE	by1000G	.	.	T:0.001	.	ENSP00000334563	T:0	43/44	.	.	.	.	.	.	.	.	rs572116317	43/44	PASS	ENST00000335473	Transcript	.	T:0.0002	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	T:0	tolerated(0.4)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Gln2347Lys,ENST00000335473,;MYO18B,missense_variant,p.Gln297Lys,ENST00000543971,;MYO18B,missense_variant,p.Gln2348Lys,ENST00000407587,;MYO18B,missense_variant,p.Gln2347Lys,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;MYO18B,upstream_gene_variant,,ENST00000540454,;	7289	35	45	SUCCESS
SEC14L4	284904	.	GRCh37	22	30899672	30899672	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	58	0	ENST00000255858.7:c.122G>A	p.Trp41Ter	p.W41*	ENST00000255858	NM_174977.3	41	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS13878.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCAGCGC	NONE	.	.	Prints_domain:PR00180,Superfamily_domains:SSF46938,SMART_domains:SM01100,Gene3D:3.40.525.10,Pfam_domain:PF03765,hmmpanther:PTHR23324:SF42,hmmpanther:PTHR23324	.	.	ENSP00000255858	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000255858	Transcript	.	.	ENSG00000133488	20627	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S14L4_HUMAN	SEC14L4	HGNC	Q6ICM2_HUMAN,B2RMR2_HUMAN	.	UPI0000135435	SNV	SEC14L4,stop_gained,p.Trp41Ter,ENST00000381982,;SEC14L4,stop_gained,p.Trp41Ter,ENST00000255858,;SEC14L4,missense_variant,p.Gly10Ser,ENST00000540456,;SEC14L4,5_prime_UTR_variant,,ENST00000392772,;SEC14L4,stop_gained,p.Trp41Ter,ENST00000321205,;SEC14L4,3_prime_UTR_variant,,ENST00000320982,;	206	58	64	SUCCESS
EIF3D	8664	.	GRCh37	22	36920731	36920731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	37	138	0	ENST00000216190.8:c.218A>G	p.His73Arg	p.H73R	ENST00000216190	NM_003753.3	73	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS13930.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCATGGAAA	NONE	.	.	HAMAP:MF_03003,hmmpanther:PTHR12399,Pfam_domain:PF05091,PIRSF_domain:PIRSF016281	.	.	ENSP00000216190	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000216190	Transcript	.	.	ENSG00000100353	3278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	EIF3D_HUMAN	EIF3D	HGNC	B4E1K8_HUMAN,B0QYA8_HUMAN,B0QYA6_HUMAN,B0QYA5_HUMAN,B0QYA4_HUMAN,B0QYA3_HUMAN,A8MWD3_HUMAN	.	UPI000012D306	SNV	EIF3D,missense_variant,p.His73Arg,ENST00000457241,;EIF3D,missense_variant,p.His73Arg,ENST00000455547,;EIF3D,missense_variant,p.His73Arg,ENST00000216190,;EIF3D,missense_variant,p.His73Arg,ENST00000405442,;EIF3D,missense_variant,p.His73Arg,ENST00000432675,;EIF3D,missense_variant,p.His73Arg,ENST00000402116,;EIF3D,intron_variant,,ENST00000541106,;EIF3D,downstream_gene_variant,,ENST00000496875,;	589	138	195	SUCCESS
SLC25A17	10478	.	GRCh37	22	41215288	41215288	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	55	0	ENST00000435456.2:c.-36G>A		p.*12*	ENST00000435456	NM_006358.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14005.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCCACAG	NONE	.	.	.	.	.	ENSP00000390722	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000435456	Transcript	.	.	ENSG00000100372	10987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PM34_HUMAN	SLC25A17	HGNC	.	.	UPI0000049C3A	SNV	SLC25A17,5_prime_UTR_variant,,ENST00000435456,;SLC25A17,5_prime_UTR_variant,,ENST00000434185,;SLC25A17,5_prime_UTR_variant,,ENST00000544408,;SLC25A17,5_prime_UTR_variant,,ENST00000542412,;SLC25A17,non_coding_transcript_exon_variant,,ENST00000491545,;SLC25A17,5_prime_UTR_variant,,ENST00000447566,;SLC25A17,5_prime_UTR_variant,,ENST00000434193,;SLC25A17,5_prime_UTR_variant,,ENST00000449676,;SLC25A17,5_prime_UTR_variant,,ENST00000458600,;SLC25A17,5_prime_UTR_variant,,ENST00000427084,;SLC25A17,5_prime_UTR_variant,,ENST00000412879,;SLC25A17,5_prime_UTR_variant,,ENST00000443810,;SLC25A17,5_prime_UTR_variant,,ENST00000420970,;SLC25A17,5_prime_UTR_variant,,ENST00000263255,;SLC25A17,5_prime_UTR_variant,,ENST00000430221,;SLC25A17,5_prime_UTR_variant,,ENST00000426396,;	99	55	30	SUCCESS
TCF20	6942	.	GRCh37	22	42606358	42606358	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	264	30	286	0	ENST00000359486.3:c.4954G>C	p.Ala1652Pro	p.A1652P	ENST00000359486	NM_005650.2	1652	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS14033.1	4954	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCATTGA	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.961)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Ala1652Pro,ENST00000335626,;TCF20,missense_variant,p.Ala1652Pro,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	5091	286	294	SUCCESS
RIBC2	26150	.	GRCh37	22	45810271	45810271	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	55	0	ENST00000342894.3:c.-21A>G		p.*7*	ENST00000342894		61		0	.	.	.	.	.	G	R	protein_coding	YES	.	183	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGACATGA	NONE	.	.	Pfam_domain:PF05914,hmmpanther:PTHR14517:SF2,hmmpanther:PTHR14517	.	.	ENSP00000444196	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000538017	Transcript	.	.	ENSG00000128408	13241	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RIBC2	HGNC	F5GZV2_HUMAN	.	UPI0002065232	SNV	RIBC2,synonymous_variant,p.%3D,ENST00000538017,;RIBC2,5_prime_UTR_variant,,ENST00000342894,;SMC1B,upstream_gene_variant,,ENST00000357450,;SMC1B,upstream_gene_variant,,ENST00000404354,;RIBC2,upstream_gene_variant,,ENST00000466226,;RIBC2,non_coding_transcript_exon_variant,,ENST00000498265,;	392	55	79	SUCCESS
GRAMD4	23151	.	GRCh37	22	47059981	47059981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	56	190	0	ENST00000361034.3:c.684G>T	p.Trp228Cys	p.W228C	ENST00000361034	NM_015124.3	228	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS33672.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGTACTC	NONE	.	.	hmmpanther:PTHR16122	.	.	ENSP00000385689	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000406902	Transcript	.	.	ENSG00000075240	29113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	GRAM4_HUMAN	GRAMD4	HGNC	.	.	UPI0000161A59	SNV	GRAMD4,missense_variant,p.Trp51Cys,ENST00000456069,;GRAMD4,missense_variant,p.Trp228Cys,ENST00000406902,;GRAMD4,missense_variant,p.Trp228Cys,ENST00000361034,;	897	190	205	SUCCESS
AFF3	3899	.	GRCh37	2	100194857	100194857	+	synonymous_variant	Silent	SNP	C	C	T	rs762823547	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	58	126	0	ENST00000409236.2:c.2850G>A	p.Thr950=	p.T950=	ENST00000409236		950	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33258.1	2925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCGTCTG	NONE	.	.	hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110	.	.	ENSP00000348793	.	17/24	.	.	.	.	.	.	.	.	rs762823547	17/24	PASS	ENST00000356421	Transcript	.	.	ENSG00000144218	6473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFF3_HUMAN	AFF3	HGNC	.	.	UPI000041098C	SNV	AFF3,synonymous_variant,p.%3D,ENST00000409579,;AFF3,synonymous_variant,p.%3D,ENST00000356421,;AFF3,synonymous_variant,p.%3D,ENST00000317233,;AFF3,synonymous_variant,p.%3D,ENST00000409236,;AFF3,upstream_gene_variant,,ENST00000445815,;	3069	126	183	SUCCESS
IL1RL1	9173	.	GRCh37	2	102968228	102968228	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	28	163	0	ENST00000233954.1:c.1518A>G	p.Val506=	p.V506=	ENST00000233954	NM_016232.4	506	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS2057.1	1518	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTACAGGG	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF7,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537	.	.	ENSP00000233954	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000233954	Transcript	.	.	ENSG00000115602	5998	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ILRL1_HUMAN	IL1RL1	HGNC	C9JSY6_HUMAN,A8VPX0_HUMAN	.	UPI000013C992	SNV	IL1RL1,synonymous_variant,p.%3D,ENST00000233954,;IL18R1,intron_variant,,ENST00000410040,;IL18R1,upstream_gene_variant,,ENST00000409599,;IL18R1,upstream_gene_variant,,ENST00000466357,;	1789	163	188	SUCCESS
SLC9A4	389015	.	GRCh37	2	103090418	103090418	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	43	133	0	ENST00000295269.4:c.200T>C	p.Val67Ala	p.V67A	ENST00000295269	NM_001011552.3	67	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33264.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGTGCAAA	NONE	.	.	hmmpanther:PTHR10110:SF103,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	.	.	ENSP00000295269	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000295269	Transcript	.	.	ENSG00000180251	11077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SL9A4_HUMAN	SLC9A4	HGNC	.	.	UPI000047F996	SNV	SLC9A4,missense_variant,p.Val67Ala,ENST00000295269,;	657	133	148	SUCCESS
SLC9A4	389015	.	GRCh37	2	103124608	103124608	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	316	55	319	0	ENST00000295269.4:c.1269C>A	p.Ile423=	p.I423=	ENST00000295269	NM_001011552.3	423	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33264.1	1269	RADIA|MUTECT|MUSE|VARSCANS	.	TGCATCATTTT	NONE	.	.	hmmpanther:PTHR10110:SF103,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840	.	.	ENSP00000295269	.	5/12	.	.	.	.	.	.	.	.	COSM3981736	5/12	PASS	ENST00000295269	Transcript	.	.	ENSG00000180251	11077	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	SL9A4_HUMAN	SLC9A4	HGNC	.	.	UPI000047F996	SNV	SLC9A4,synonymous_variant,p.%3D,ENST00000295269,;SLC9A4,downstream_gene_variant,,ENST00000492154,;	1726	319	371	SUCCESS
SLC9A2	6549	.	GRCh37	2	103300730	103300730	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1443843603	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	292	90	315	0	ENST00000233969.2:c.1360T>C	p.Phe454Leu	p.F454L	ENST00000233969	NM_003048.3	454	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2062.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTTTCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840	.	.	ENSP00000233969	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000233969	Transcript	.	.	ENSG00000115616	11072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.389)	.	deleterious(0)	.	SL9A2_HUMAN	SLC9A2	HGNC	.	.	UPI000012FD21	SNV	SLC9A2,missense_variant,p.Phe454Leu,ENST00000233969,;SLC9A2,upstream_gene_variant,,ENST00000467657,;	1502	315	383	SUCCESS
RGPD4	285190	.	GRCh37	2	108489237	108489237	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	23	141	0	ENST00000408999.3:c.4777T>A	p.Ser1593Thr	p.S1593T	ENST00000408999	NM_182588.2	1593	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS46381.1	4777	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGATCTGAA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	COSM1663914	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.017)	.	tolerated_low_confidence(0.18)	1	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Ser1593Thr,ENST00000408999,;RGPD4,missense_variant,p.Ser1593Thr,ENST00000354986,;	4854	141	158	SUCCESS
ZC3H6	376940	.	GRCh37	2	113082723	113082723	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	266	115	318	1	ENST00000343936.4:c.2035G>A	p.Asp679Asn	p.D679N	ENST00000343936		679	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS46393.1	2035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGATGAA	NONE	.	.	hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22	.	.	ENSP00000386764	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000409871	Transcript	.	.	ENSG00000188177	24762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	tolerated(0.1)	.	ZC3H6_HUMAN	ZC3H6	HGNC	.	.	UPI00004215E8	SNV	ZC3H6,missense_variant,p.Asp679Asn,ENST00000343936,;ZC3H6,missense_variant,p.Asp679Asn,ENST00000409871,;	2436	320	381	SUCCESS
NBAS	51594	.	GRCh37	2	15307372	15307372	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	17	155	0	ENST00000281513.5:c.6916A>T	p.Thr2306Ser	p.T2306S	ENST00000281513	NM_015909.3	2306	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1685.1	6916	MUTECT|MUSE|VARSCANS	.	GGGAGTGGAGA	NONE	.	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	tolerated(0.26)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Thr119Ser,ENST00000433283,;NBAS,missense_variant,p.Thr2186Ser,ENST00000441750,;NBAS,missense_variant,p.Thr2306Ser,ENST00000281513,;NBAS,missense_variant,p.Thr1354Ser,ENST00000442506,;NBAS,3_prime_UTR_variant,,ENST00000417461,;NBAS,non_coding_transcript_exon_variant,,ENST00000485694,;	6942	155	180	SUCCESS
KCNH7	90134	.	GRCh37	2	163361023	163361023	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	44	167	0	ENST00000332142.5:c.1058C>A	p.Ser353Tyr	p.S353Y	ENST00000332142	NM_033272.3	353	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2219.1	1058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGAAGGA	NONE	.	.	hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217	.	.	ENSP00000331727	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000332142	Transcript	.	.	ENSG00000184611	18863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0)	.	KCNH7_HUMAN	KCNH7	HGNC	.	.	UPI0000167D11	SNV	KCNH7,missense_variant,p.Ser353Tyr,ENST00000332142,;KCNH7,missense_variant,p.Ser346Tyr,ENST00000328032,;KCNH7,non_coding_transcript_exon_variant,,ENST00000477019,;	1158	167	212	SUCCESS
COBLL1	22837	.	GRCh37	2	165548775	165548775	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	144	0	ENST00000392717.2:c.3484C>T	p.Leu1162=	p.L1162=	ENST00000392717		1162	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2223.2	3370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGCAAAC	NONE	.	.	PROSITE_profiles:PS51082,hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,synonymous_variant,p.%3D,ENST00000375458,;COBLL1,synonymous_variant,p.%3D,ENST00000409184,;COBLL1,synonymous_variant,p.%3D,ENST00000342193,;COBLL1,synonymous_variant,p.%3D,ENST00000392717,;COBLL1,synonymous_variant,p.%3D,ENST00000194871,;SNORA70F,upstream_gene_variant,,ENST00000384142,;COBLL1,non_coding_transcript_exon_variant,,ENST00000495084,;COBLL1,downstream_gene_variant,,ENST00000493713,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;AC019181.3,upstream_gene_variant,,ENST00000417151,;	3586	144	152	SUCCESS
TTN	7273	.	GRCh37	2	179494968	179494968	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs192766485	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	48	0	ENST00000591111.1:c.39358C>T	p.Pro13120Ser	p.P13120S	ENST00000591111		13120	Cca/Tca	0	A:0	A:0	.	A:0.0014	.	A	P/S	protein_coding	YES	CCDS59435.1	44281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	CTTACGCTTAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	A:0	A:0.0006	ENSP00000467141	A:0.001	239/363	.	.	.	.	.	.	.	.	rs192766485,COSM3938752,COSM3938751,COSM3938748,COSM3938750,COSM3938749	239/363	common_in_exac	ENST00000589042	Transcript	.	A:0.0004	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	.	.	A:0	.	0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro5821Ser,ENST00000359218,;TTN,missense_variant,p.Pro5888Ser,ENST00000342175,;TTN,missense_variant,p.Pro12193Ser,ENST00000342992,;TTN,missense_variant,p.Pro13120Ser,ENST00000591111,;TTN,missense_variant,p.Pro14761Ser,ENST00000589042,;TTN,missense_variant,p.Pro5696Ser,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;	44506	48	59	SUCCESS
TTN	7273	.	GRCh37	2	179569674	179569674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	29	159	0	ENST00000591111.1:c.28673G>T	p.Arg9558Met	p.R9558M	ENST00000591111		9558	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS59435.1	29624	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCTCTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	104/363	.	.	.	.	.	.	.	.	.	104/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg8631Met,ENST00000342992,;TTN,missense_variant,p.Arg9875Met,ENST00000589042,;TTN,missense_variant,p.Arg9558Met,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	29849	159	224	SUCCESS
TTN	7273	.	GRCh37	2	179616369	179616369	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	29	98	1	ENST00000591111.1:c.10360+1482A>T		p.*3454*	ENST00000591111				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTTCACT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu3586Asp,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	99	111	SUCCESS
TTN	7273	.	GRCh37	2	179648982	179648982	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375659512	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	62	189	1	ENST00000591111.1:c.2590G>A	p.Val864Met	p.V864M	ENST00000591111		864	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS59435.1	2590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACAGTAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	T:0.0001	ENSP00000467141	.	16/363	.	.	.	.	.	.	.	.	rs375659512	16/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val864Met,ENST00000360870,;TTN,missense_variant,p.Val864Met,ENST00000342992,;TTN,missense_variant,p.Val818Met,ENST00000342175,;TTN,missense_variant,p.Val818Met,ENST00000359218,;TTN,missense_variant,p.Val864Met,ENST00000589042,;TTN,missense_variant,p.Val864Met,ENST00000591111,;TTN,missense_variant,p.Val818Met,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000436599,;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	2815	191	228	SUCCESS
KCNS3	3790	.	GRCh37	2	18112349	18112349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	119	255	0	ENST00000304101.4:c.74A>G	p.Lys25Arg	p.K25R	ENST00000304101	NM_002252.3	25	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1692.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAAGCAGT	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01494	.	.	ENSP00000385968	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000403915	Transcript	.	.	ENSG00000170745	6302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.4)	.	KCNS3_HUMAN	KCNS3	HGNC	C9J187_HUMAN	.	UPI000013E93A	SNV	KCNS3,missense_variant,p.Lys25Arg,ENST00000419802,;KCNS3,missense_variant,p.Lys25Arg,ENST00000304101,;KCNS3,missense_variant,p.Lys25Arg,ENST00000403915,;KCNS3,intron_variant,,ENST00000465292,;	525	255	343	SUCCESS
COL5A2	1290	.	GRCh37	2	189901361	189901361	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	69	0	ENST00000374866.3:c.4094A>T	p.Asp1365Val	p.D1365V	ENST00000374866	NM_000393.3	1365	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS33350.1	4094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATATCAAGA	NONE	.	.	SMART_domains:SM00038,Pfam_domain:PF01410,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,PROSITE_profiles:PS51461	.	.	ENSP00000364000	.	52/54	.	.	.	.	.	.	.	.	.	52/54	PASS	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,missense_variant,p.Asp1365Val,ENST00000374866,;	4369	69	93	SUCCESS
STAT4	6775	.	GRCh37	2	191898231	191898231	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	31	86	0	ENST00000358470.4:c.1837G>A	p.Asp613Asn	p.D613N	ENST00000358470	NM_001243835.1	613	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2310.1	1837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCCACCC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Pfam_domain:PF00017,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	.	.	ENSP00000376134	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000392320	Transcript	.	.	ENSG00000138378	11365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0)	.	STAT4_HUMAN	STAT4	HGNC	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN	.	UPI00000015F2	SNV	STAT4,missense_variant,p.Asp613Asn,ENST00000358470,;STAT4,missense_variant,p.Asp613Asn,ENST00000392320,;AC067945.4,downstream_gene_variant,,ENST00000456176,;STAT4,downstream_gene_variant,,ENST00000470708,;STAT4,non_coding_transcript_exon_variant,,ENST00000463951,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;AC067945.4,downstream_gene_variant,,ENST00000429796,;	2152	86	114	SUCCESS
MYO1B	4430	.	GRCh37	2	192228452	192228452	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	73	1	ENST00000304164.4:c.766-2A>T		p.X256_splice	ENST00000304164	NM_001161819.1	256		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46477.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGAATG	NONE	.	.	.	.	.	ENSP00000376132	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392318	Transcript	.	.	ENSG00000128641	7596	.	.	HIGH	9/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO1B_HUMAN	MYO1B	HGNC	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN	.	UPI00001A9466	SNV	MYO1B,splice_acceptor_variant,,ENST00000392316,;MYO1B,splice_acceptor_variant,,ENST00000451437,;MYO1B,splice_acceptor_variant,,ENST00000392318,;MYO1B,splice_acceptor_variant,,ENST00000339514,;MYO1B,splice_acceptor_variant,,ENST00000304164,;	.	74	75	SUCCESS
CCDC150	284992	.	GRCh37	2	197521532	197521532	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	58	0	ENST00000389175.4:c.352A>T	p.Ile118Phe	p.I118F	ENST00000389175	NM_001080539.1	118	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS46478.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACATCTTT	NONE	.	.	.	.	.	ENSP00000373827	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000389175	Transcript	.	.	ENSG00000144395	26834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	CC150_HUMAN	CCDC150	HGNC	.	.	UPI0000DD7A7C	SNV	CCDC150,missense_variant,p.Ile118Phe,ENST00000389175,;CCDC150,missense_variant,p.Ile15Phe,ENST00000472405,;CCDC150,intron_variant,,ENST00000423093,;CCDC150,intron_variant,,ENST00000272831,;CCDC150,non_coding_transcript_exon_variant,,ENST00000495513,;CCDC150,intron_variant,,ENST00000498512,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471546,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471033,;CCDC150,intron_variant,,ENST00000431807,;	487	58	90	SUCCESS
BMPR2	659	.	GRCh37	2	203332240	203332240	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs1085307193	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	80	0	ENST00000374580.4:c.248-2A>G		p.X83_splice	ENST00000374580	NM_001204.6	83		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33361.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATAGGATG	NONE	.	.	.	.	.	ENSP00000363708	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374580	Transcript	.	.	ENSG00000204217	1078	.	.	HIGH	2/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMPR2_HUMAN	BMPR2	HGNC	.	.	UPI0000126A3B	SNV	BMPR2,splice_acceptor_variant,,ENST00000374574,;BMPR2,splice_acceptor_variant,,ENST00000374580,;BMPR2,splice_acceptor_variant,,ENST00000479069,;	.	81	107	SUCCESS
UNC80	285175	.	GRCh37	2	210786230	210786230	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	14	98	0	ENST00000439458.1:c.5152T>G	p.Phe1718Val	p.F1718V	ENST00000439458	NM_032504.1	1718	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS46504.1	5152	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTTTTCA	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	33/64	.	.	.	.	.	.	.	.	.	33/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.492)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Phe1718Val,ENST00000439458,;UNC80,missense_variant,p.Phe1713Val,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	5232	98	132	SUCCESS
IKZF2	22807	.	GRCh37	2	213872617	213872617	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	39	152	0	ENST00000434687.1:c.1048G>C	p.Val350Leu	p.V350L	ENST00000434687		350	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS2395.1	1048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAACTGGGG	NONE	.	.	hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404	.	.	ENSP00000410447	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000457361	Transcript	.	.	ENSG00000030419	13177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	deleterious(0.04)	.	IKZF2_HUMAN	IKZF2	HGNC	Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN	.	UPI000013D4DA	SNV	IKZF2,missense_variant,p.Val350Leu,ENST00000457361,;IKZF2,missense_variant,p.Val350Leu,ENST00000434687,;IKZF2,missense_variant,p.Val205Leu,ENST00000374327,;IKZF2,missense_variant,p.Val276Leu,ENST00000421754,;IKZF2,missense_variant,p.Val278Leu,ENST00000451136,;IKZF2,missense_variant,p.Val356Leu,ENST00000342002,;IKZF2,missense_variant,p.Val324Leu,ENST00000374319,;IKZF2,3_prime_UTR_variant,,ENST00000413091,;AC079610.1,intron_variant,,ENST00000415387,;IKZF2,3_prime_UTR_variant,,ENST00000453575,;IKZF2,3_prime_UTR_variant,,ENST00000439848,;IKZF2,3_prime_UTR_variant,,ENST00000412444,;IKZF2,3_prime_UTR_variant,,ENST00000431520,;IKZF2,3_prime_UTR_variant,,ENST00000374326,;IKZF2,non_coding_transcript_exon_variant,,ENST00000484040,;	1217	152	182	SUCCESS
RUFY4	285180	.	GRCh37	2	218947924	218947924	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	62	182	0	ENST00000344321.7:c.1447G>A	p.Gly483Arg	p.G483R	ENST00000344321	NM_198483.3	483	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	.	1507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTGGAGGG	NONE	.	.	hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF13	.	.	ENSP00000363270	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000374155	Transcript	.	.	ENSG00000188282	24804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.2)	.	.	RUFY4	HGNC	C9J235_HUMAN	.	UPI000035E73D	SNV	RUFY4,missense_variant,p.Gly503Arg,ENST00000374155,;RUFY4,missense_variant,p.Gly483Arg,ENST00000344321,;RUFY4,3_prime_UTR_variant,,ENST00000441828,;RUFY4,3_prime_UTR_variant,,ENST00000457754,;	1917	182	232	SUCCESS
TUBA4A	7277	.	GRCh37	2	220116022	220116022	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770260351	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	75	0	ENST00000248437.4:c.399G>C	p.Gln133His	p.Q133H	ENST00000248437	NM_006000.2	133	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS2438.1	399	MUTECT|MUSE	.	AAGCCCTGAAG	NONE	.	.	Superfamily_domains:SSF52490,SMART_domains:SM00864,Gene3D:3.40.50.1440,Pfam_domain:PF00091,hmmpanther:PTHR11588:SF75,hmmpanther:PTHR11588	.	.	ENSP00000248437	.	4/4	.	.	.	.	.	.	.	.	rs770260351	4/4	PASS	ENST00000248437	Transcript	.	.	ENSG00000127824	12407	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	TBA4A_HUMAN	TUBA4A	HGNC	C9JQ00_HUMAN,C9JEV8_HUMAN,C9JDS9_HUMAN,A8MUB1_HUMAN	.	UPI0000004129	SNV	TUBA4A,missense_variant,p.Gln118His,ENST00000392088,;TUBA4A,missense_variant,p.Gln118His,ENST00000427737,;TUBA4A,missense_variant,p.Gln133His,ENST00000248437,;TUBA4A,missense_variant,p.Gln156His,ENST00000456818,;TUBA4A,missense_variant,p.Gln118His,ENST00000447205,;TUBA4A,5_prime_UTR_variant,,ENST00000398989,;STK16,downstream_gene_variant,,ENST00000409516,;STK16,downstream_gene_variant,,ENST00000409260,;STK16,downstream_gene_variant,,ENST00000409743,;STK16,downstream_gene_variant,,ENST00000409638,;TUBA4A,downstream_gene_variant,,ENST00000425551,;STK16,downstream_gene_variant,,ENST00000396738,;TUBA4A,non_coding_transcript_exon_variant,,ENST00000498660,;TUBA4B,upstream_gene_variant,,ENST00000485041,;STK16,downstream_gene_variant,,ENST00000486813,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000473885,;TUBA4A,non_coding_transcript_exon_variant,,ENST00000462806,;STK16,downstream_gene_variant,,ENST00000496443,;STK16,downstream_gene_variant,,ENST00000475696,;TUBA4A,downstream_gene_variant,,ENST00000475683,;STK16,downstream_gene_variant,,ENST00000475342,;STK16,downstream_gene_variant,,ENST00000478018,;STK16,downstream_gene_variant,,ENST00000461417,;STK16,downstream_gene_variant,,ENST00000496800,;STK16,downstream_gene_variant,,ENST00000491697,;	573	75	103	SUCCESS
GIGYF2	26058	.	GRCh37	2	233710580	233710580	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	23	86	0	ENST00000373563.4:c.3444G>A	p.Thr1148=	p.T1148=	ENST00000373563	NM_001103146.1	1148	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46542.1	3507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACGGCAAA	NONE	.	.	hmmpanther:PTHR14445:SF38,hmmpanther:PTHR14445	.	.	ENSP00000387170	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000409451	Transcript	.	.	ENSG00000204120	11960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERQ2_HUMAN	GIGYF2	HGNC	C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN	.	UPI00003FEC8F	SNV	GIGYF2,synonymous_variant,p.%3D,ENST00000373563,;GIGYF2,synonymous_variant,p.%3D,ENST00000409547,;GIGYF2,synonymous_variant,p.%3D,ENST00000373566,;GIGYF2,synonymous_variant,p.%3D,ENST00000409480,;GIGYF2,synonymous_variant,p.%3D,ENST00000409196,;GIGYF2,synonymous_variant,p.%3D,ENST00000409451,;GIGYF2,downstream_gene_variant,,ENST00000452341,;GIGYF2,downstream_gene_variant,,ENST00000426102,;GIGYF2,downstream_gene_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;GIGYF2,downstream_gene_variant,,ENST00000471011,;	3733	86	152	SUCCESS
COL6A3	1293	.	GRCh37	2	238274558	238274558	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	46	0	ENST00000295550.4:c.5621G>C	p.Arg1874Thr	p.R1874T	ENST00000295550	NM_004369.3	1874	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS33412.1	5621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCTGTGC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	12/44	.	.	.	.	.	.	.	.	.	12/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.468)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Arg1674Thr,ENST00000346358,;COL6A3,missense_variant,p.Arg1673Thr,ENST00000347401,;COL6A3,missense_variant,p.Arg1267Thr,ENST00000472056,;COL6A3,missense_variant,p.Arg1668Thr,ENST00000353578,;COL6A3,missense_variant,p.Arg1668Thr,ENST00000409809,;COL6A3,missense_variant,p.Arg1874Thr,ENST00000295550,;	6074	46	59	SUCCESS
SCLY	51540	.	GRCh37	2	238990418	238990418	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140009501	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	92	0	ENST00000254663.6:c.577C>A	p.Arg193Ser	p.R193S	ENST00000254663	NM_016510.5	193	Cgc/Agc	0	T:0.0002	.	.	.	.	A	R/S	protein_coding	YES	CCDS2524.2	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCGCCCG	NONE	byCluster	.	hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383	.	T:0	ENSP00000254663	.	5/12	.	.	.	.	.	.	.	.	rs140009501	5/12	PASS	ENST00000254663	Transcript	.	.	ENSG00000132330	18161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	deleterious(0.03)	.	SCLY_HUMAN	SCLY	HGNC	B4DDP9_HUMAN	.	UPI0000EE3842	SNV	SCLY,missense_variant,p.Arg15Ser,ENST00000450965,;SCLY,missense_variant,p.Arg185Ser,ENST00000555827,;SCLY,missense_variant,p.Arg29Ser,ENST00000437134,;SCLY,missense_variant,p.Arg193Ser,ENST00000254663,;SCLY,missense_variant,p.Arg31Ser,ENST00000431487,;SCLY,missense_variant,p.Arg103Ser,ENST00000373332,;SCLY,missense_variant,p.Arg91Ser,ENST00000422984,;SCLY,missense_variant,p.Arg185Ser,ENST00000409736,;SCLY,missense_variant,p.Arg99Ser,ENST00000413463,;SCLY,intron_variant,,ENST00000429612,;SCLY,intron_variant,,ENST00000412508,;SCLY,upstream_gene_variant,,ENST00000433750,;SCLY,upstream_gene_variant,,ENST00000440143,;SCLY,downstream_gene_variant,,ENST00000480859,;SCLY,3_prime_UTR_variant,,ENST00000443532,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,3_prime_UTR_variant,,ENST00000423324,;SCLY,non_coding_transcript_exon_variant,,ENST00000497951,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,non_coding_transcript_exon_variant,,ENST00000482031,;SCLY,downstream_gene_variant,,ENST00000446202,;	719	92	124	SUCCESS
KLHL29	114818	.	GRCh37	2	23918908	23918908	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1490082776	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	125	0	ENST00000486442.1:c.1829C>T	p.Pro610Leu	p.P610L	ENST00000486442	NM_052920.1	610	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54335.1	1829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCCGCAGA	NONE	.	.	Superfamily_domains:0052715,SMART_domains:SM00612,Gene3D:1k3iA02,hmmpanther:PTHR24412:SF10,hmmpanther:PTHR24412	.	.	ENSP00000420659	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000486442	Transcript	.	.	ENSG00000119771	29404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	KLH29_HUMAN	KLHL29	HGNC	Q53T86_HUMAN	.	UPI000058F1B6	SNV	KLHL29,missense_variant,p.Pro450Leu,ENST00000288548,;KLHL29,missense_variant,p.Pro610Leu,ENST00000486442,;KLHL29,non_coding_transcript_exon_variant,,ENST00000471654,;	2546	125	106	SUCCESS
GPC1	2817	.	GRCh37	2	241401800	241401800	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767152299	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	29	1	ENST00000264039.2:c.518G>A	p.Arg173His	p.R173H	ENST00000264039	NM_002081.2	173	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS2534.1	518	SOMATICSNIPER|VARSCANS	.	CGAGCGCCTCT	NONE	byFrequency	.	hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF8,Pfam_domain:PF01153	.	.	ENSP00000264039	.	3/9	.	.	.	.	.	.	.	.	rs767152299	3/9	PASS	ENST00000264039	Transcript	.	.	ENSG00000063660	4449	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	GPC1_HUMAN	GPC1	HGNC	.	.	UPI000013D4AA	SNV	GPC1,missense_variant,p.Arg130His,ENST00000427506,;GPC1,missense_variant,p.Arg173His,ENST00000264039,;GPC1,missense_variant,p.Arg123His,ENST00000426280,;GPC1,missense_variant,p.Arg213His,ENST00000420138,;GPC1,missense_variant,p.Arg169His,ENST00000425056,;GPC1,upstream_gene_variant,,ENST00000455111,;GPC1,upstream_gene_variant,,ENST00000466624,;GPC1,non_coding_transcript_exon_variant,,ENST00000469694,;GPC1,non_coding_transcript_exon_variant,,ENST00000495100,;	766	30	28	SUCCESS
GALNT14	79623	.	GRCh37	2	31178813	31178813	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	53	145	0	ENST00000349752.5:c.497C>T	p.Pro166Leu	p.P166L	ENST00000349752	NM_024572.3	166	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS58706.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGGCAAC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000314500	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000324589	Transcript	.	.	ENSG00000158089	22946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	GLT14_HUMAN	GALNT14	HGNC	.	.	UPI0000073A6F	SNV	GALNT14,missense_variant,p.Pro131Leu,ENST00000420311,;GALNT14,missense_variant,p.Pro171Leu,ENST00000324589,;GALNT14,missense_variant,p.Pro133Leu,ENST00000430167,;GALNT14,missense_variant,p.Pro133Leu,ENST00000356174,;GALNT14,missense_variant,p.Pro166Leu,ENST00000349752,;GALNT14,missense_variant,p.Pro146Leu,ENST00000406653,;GALNT14,non_coding_transcript_exon_variant,,ENST00000461193,;GALNT14,non_coding_transcript_exon_variant,,ENST00000496397,;GALNT14,non_coding_transcript_exon_variant,,ENST00000464038,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,upstream_gene_variant,,ENST00000486564,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;GALNT14,3_prime_UTR_variant,,ENST00000424136,;	573	145	194	SUCCESS
LHCGR	3973	.	GRCh37	2	48915238	48915238	+	synonymous_variant	Silent	SNP	C	C	T	rs1165348987	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	15	134	0	ENST00000294954.7:c.1698G>A	p.Lys566=	p.K566=	ENST00000294954	NM_000233.3	566	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS1842.1	1698	RADIA|MUTECT|MUSE|VARSCANS	.	GCAATCTTTGT	BUFFER|p.D564G|c.1691A>G|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00373	.	.	ENSP00000294954	.	11/11	.	.	.	.	.	.	.	.	COSM1632028	11/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,synonymous_variant,p.%3D,ENST00000405626,;LHCGR,synonymous_variant,p.%3D,ENST00000344775,;LHCGR,synonymous_variant,p.%3D,ENST00000294954,;LHCGR,3_prime_UTR_variant,,ENST00000403273,;LHCGR,3_prime_UTR_variant,,ENST00000401907,;GTF2A1L,intron_variant,,ENST00000508440,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;	1720	134	153	SUCCESS
EFEMP1	2202	.	GRCh37	2	56108782	56108782	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	43	164	0	ENST00000355426.3:c.605C>T	p.Pro202Leu	p.P202L	ENST00000355426		202	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1857.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGGGCAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048,PROSITE_patterns:PS01186,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000378058	.	5/11	.	.	.	.	.	.	.	.	COSM1408725	5/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated(0.17)	1	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Pro202Leu,ENST00000355426,;EFEMP1,missense_variant,p.Pro202Leu,ENST00000394554,;EFEMP1,missense_variant,p.Pro144Leu,ENST00000424836,;EFEMP1,missense_variant,p.Pro202Leu,ENST00000394555,;	1041	164	203	SUCCESS
CCDC142	84865	.	GRCh37	2	74707914	74707914	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	22	178	0	ENST00000393965.3:c.1485G>A	p.Lys495=	p.K495=	ENST00000393965	NM_032779.3	495	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS1945.1	1464	MUTECT|MUSE|VARSCANS	.	GTCAGCTTCTG	NONE	.	.	hmmpanther:PTHR21436,hmmpanther:PTHR21436:SF1,Pfam_domain:PF14923	.	.	ENSP00000290418	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000290418	Transcript	.	.	ENSG00000135637	25889	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC142_HUMAN	CCDC142	HGNC	.	.	UPI000013CFB5	SNV	CCDC142,synonymous_variant,p.%3D,ENST00000393965,;CCDC142,synonymous_variant,p.%3D,ENST00000290418,;TTC31,upstream_gene_variant,,ENST00000442235,;TTC31,upstream_gene_variant,,ENST00000410003,;TTC31,upstream_gene_variant,,ENST00000233623,;CCDC142,non_coding_transcript_exon_variant,,ENST00000471713,;CCDC142,non_coding_transcript_exon_variant,,ENST00000474681,;TTC31,upstream_gene_variant,,ENST00000463189,;CCDC142,synonymous_variant,p.%3D,ENST00000454193,;CCDC142,non_coding_transcript_exon_variant,,ENST00000497232,;TTC31,upstream_gene_variant,,ENST00000463704,;TTC31,upstream_gene_variant,,ENST00000459957,;CCDC142,downstream_gene_variant,,ENST00000472962,;TTC31,upstream_gene_variant,,ENST00000464241,;TTC31,upstream_gene_variant,,ENST00000491252,;TTC31,upstream_gene_variant,,ENST00000489152,;TTC31,upstream_gene_variant,,ENST00000424122,;TTC31,upstream_gene_variant,,ENST00000449459,;	1623	178	213	SUCCESS
TACR1	6869	.	GRCh37	2	75278382	75278382	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768753495	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	97	323	1	ENST00000305249.5:c.928G>A	p.Asp310Asn	p.D310N	ENST00000305249	NM_001058.3	310	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS1958.1	928	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCTGTCATTGA	NONE	.	.	hmmpanther:PTHR24242:SF14,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00244,Prints_domain:PR00237	.	.	ENSP00000303522	.	4/5	.	.	.	.	.	.	.	.	rs768753495,COSM576259	4/5	PASS	ENST00000305249	Transcript	.	.	ENSG00000115353	11526	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.043)	.	tolerated(0.34)	0,1	NK1R_HUMAN	TACR1	HGNC	Q53TR1_HUMAN,Q53TQ2_HUMAN	.	UPI0000039D68	SNV	TACR1,missense_variant,p.Asp310Asn,ENST00000305249,;TACR1,missense_variant,p.Asp310Asn,ENST00000409848,;	1694	324	351	SUCCESS
IGKV5-2	28907	.	GRCh37	2	89197175	89197175	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761673271	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	40	116	0	ENST00000390244.2:c.220C>G	p.Leu74Val	p.L74V	ENST00000390244		74	Ctc/Gtc	0	.	.	.	.	.	G	L/V	IG_V_gene	YES	.	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTCTCGTT	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF117,PROSITE_profiles:PS50835	.	.	ENSP00000374779	.	2/2	.	.	.	.	.	.	.	.	rs761673271	2/2	PASS	ENST00000390244	Transcript	.	.	ENSG00000211599	5835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	tolerated(0.05)	.	KV501_HUMAN	IGKV5-2	HGNC	.	.	UPI000012E167	SNV	IGKV5-2,missense_variant,p.Leu74Val,ENST00000390244,;	283	116	151	SUCCESS
IGKV1D-8	28904	.	GRCh37	2	90260153	90260153	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs372314910	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	288	162	226	0	ENST00000471857.1:c.257del	p.Gly86AlafsTer?	p.G86Afs*?	ENST00000471857		86	Ggc/gc	0	A:0.0003	A:0	.	A:0	.	-	G/X	IG_V_gene	YES	.	256	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCAGTGGCAGT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	A:0	A:0.0002	ENSP00000420285	A:0.001	2/2	.	.	.	.	.	.	.	.	rs372314910	2/2	PASS	ENST00000471857	Transcript	.	A:0.0002	ENSG00000239819	5759	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	.	IGKV1D-8	HGNC	.	.	UPI0000116192	deletion	IGKV1D-8,frameshift_variant,p.Gly86AlafsTer?,ENST00000471857,;	437	226	450	SUCCESS
MYH15	22989	.	GRCh37	3	108178291	108178291	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs372985354	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	54	0	ENST00000273353.3:c.1998C>A	p.Asn666Lys	p.N666K	ENST00000273353	NM_014981.1	666	aaC/aaA	0	A:0	.	.	.	.	T	N/K	protein_coding	YES	CCDS43127.1	1998	MUTECT|MUSE	.	TTCAGGTTTTC	NONE	byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	A:0.0001	ENSP00000273353	.	19/42	.	.	.	.	.	.	.	.	rs372985354	19/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.225)	.	deleterious(0)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Asn666Lys,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000495753,;MYH15,upstream_gene_variant,,ENST00000478998,;	2055	54	63	SUCCESS
MORC1	27136	.	GRCh37	3	108833252	108833252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	95	0	ENST00000232603.5:c.98C>T	p.Ala33Val	p.A33V	ENST00000232603	NM_014429.3	33	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2955.1	98	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGCCAGT	NONE	.	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6,Pfam_domain:PF13589,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000232603	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000232603	Transcript	.	.	ENSG00000114487	7198	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,missense_variant,p.Ala33Val,ENST00000483760,;MORC1,missense_variant,p.Ala33Val,ENST00000232603,;MORC1-AS1,downstream_gene_variant,,ENST00000480826,;	181	95	81	SUCCESS
SLC9C1	285335	.	GRCh37	3	111899481	111899481	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1305188371	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	37	295	1	ENST00000305815.5:c.2678G>T	p.Cys893Phe	p.C893F	ENST00000305815	NM_183061.1	893	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS33817.1	2678	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACAATCA	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Gene3D:2.60.120.10,Pfam_domain:PF00027,Superfamily_domains:SSF51206	.	.	ENSP00000306627	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.956)	.	tolerated(0.22)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Cys845Phe,ENST00000487372,;SLC9C1,missense_variant,p.Cys893Phe,ENST00000305815,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;RP11-757F18.3,downstream_gene_variant,,ENST00000487626,;	2931	296	281	SUCCESS
KIAA1407	0	.	GRCh37	3	113720448	113720448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	256	38	287	0	ENST00000295878.3:c.2157G>T	p.Lys719Asn	p.K719N	ENST00000295878	NM_020817.1	719	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS2977.1	2157	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTTCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.795)	.	deleterious(0.01)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Lys719Asn,ENST00000295878,;KIAA1407,3_prime_UTR_variant,,ENST00000545063,;KIAA1407,downstream_gene_variant,,ENST00000491000,;QTRTD1,upstream_gene_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000527855,;KIAA1407,downstream_gene_variant,,ENST00000481358,;	2304	287	294	SUCCESS
C3orf30	0	.	GRCh37	3	118867060	118867060	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	16	92	0	ENST00000295622.1:c.1432T>C	p.Tyr478His	p.Y478H	ENST00000295622	NM_152539.2	478	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS2984.1	1432	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTTATCAT	NONE	.	.	hmmpanther:PTHR21847:SF1,hmmpanther:PTHR21847	.	.	ENSP00000295622	.	2/3	.	.	.	.	.	.	.	.	COSM3585716	2/3	PASS	ENST00000295622	Transcript	.	.	ENSG00000163424	26553	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.001)	.	tolerated(0.55)	1	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,missense_variant,p.Tyr478His,ENST00000295622,;C3orf30,intron_variant,,ENST00000492792,;RP11-484M3.5,intron_variant,,ENST00000490594,;C3orf30,intron_variant,,ENST00000460150,;C3orf30,intron_variant,,ENST00000473121,;IGSF11,upstream_gene_variant,,ENST00000425327,;IGSF11,upstream_gene_variant,,ENST00000354673,;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Tyr478His,ENST00000494105,;	1472	92	121	SUCCESS
DNAJB8	165721	.	GRCh37	3	128181553	128181553	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	19	121	0	ENST00000319153.3:c.536T>G	p.Phe179Cys	p.F179C	ENST00000319153	NM_153330.3	179	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS3048.1	536	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGAACCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242	.	.	ENSP00000417418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000469083	Transcript	.	.	ENSG00000179407	23699	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.863)	.	deleterious(0)	.	DNJB8_HUMAN	DNAJB8	HGNC	.	.	UPI0000129437	SNV	DNAJB8,missense_variant,p.Phe179Cys,ENST00000319153,;DNAJB8,missense_variant,p.Phe179Cys,ENST00000469083,;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;	3094	121	154	SUCCESS
CEP70	80321	.	GRCh37	3	138256157	138256157	+	synonymous_variant	Silent	SNP	C	C	A	rs372060625	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	7	88	0	ENST00000264982.3:c.498G>T	p.Thr166=	p.T166=	ENST00000264982	NM_024491.2	166	acG/acT	0	T:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS3102.1	498	MUTECT|MUSE	.	TGCTCCGTTCG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594	.	T:0	ENSP00000264982	.	7/18	.	.	.	.	.	.	.	.	rs372060625,COSM301926	7/18	PASS	ENST00000264982	Transcript	.	.	ENSG00000114107	29972	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CEP70_HUMAN	CEP70	HGNC	C9JZ04_HUMAN,C9J0F4_HUMAN	.	UPI000013D5A3	SNV	CEP70,synonymous_variant,p.%3D,ENST00000474781,;CEP70,synonymous_variant,p.%3D,ENST00000468900,;CEP70,synonymous_variant,p.%3D,ENST00000462419,;CEP70,synonymous_variant,p.%3D,ENST00000481834,;CEP70,synonymous_variant,p.%3D,ENST00000542237,;CEP70,synonymous_variant,p.%3D,ENST00000489254,;CEP70,synonymous_variant,p.%3D,ENST00000464035,;CEP70,synonymous_variant,p.%3D,ENST00000484888,;CEP70,synonymous_variant,p.%3D,ENST00000264982,;CEP70,non_coding_transcript_exon_variant,,ENST00000478673,;	765	88	87	SUCCESS
GRK7	131890	.	GRCh37	3	141497352	141497352	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	78	0	ENST00000264952.2:c.226A>T	p.Thr76Ser	p.T76S	ENST00000264952	NM_139209.2	76	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3120.1	226	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCACAGTG	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000264952	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000264952	Transcript	.	.	ENSG00000114124	17031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.034)	.	tolerated(0.3)	.	GRK7_HUMAN	GRK7	HGNC	.	.	UPI000004244D	SNV	GRK7,missense_variant,p.Thr76Ser,ENST00000264952,;	363	78	65	SUCCESS
IGSF10	285313	.	GRCh37	3	151161336	151161336	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs367812916	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	54	322	0	ENST00000282466.3:c.5399C>A	p.Thr1800Lys	p.T1800K	ENST00000282466	NM_178822.4	1800	aCg/aAg	0	A:0.0009	A:0.0023	.	A:0	.	T	T/K	protein_coding	YES	CCDS3160.1	5399	RADIA|MUTECT|MUSE|VARSCANS	.	CAACCGTCACC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0	A:0	ENSP00000282466	A:0	5/6	.	.	.	.	.	.	.	.	rs367812916	5/6	PASS	ENST00000282466	Transcript	.	A:0.0006	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	A:0	tolerated(0.93)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Thr1800Lys,ENST00000282466,;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	5399	323	319	SUCCESS
SLC33A1	9197	.	GRCh37	3	155571758	155571758	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	73	170	0	ENST00000359479.3:c.29G>A	p.Ser10Asn	p.S10N	ENST00000359479	NM_004733.3	10	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS3173.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCTGTCC	NONE	.	.	hmmpanther:PTHR12778,hmmpanther:PTHR12778:SF3	.	.	ENSP00000376587	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000392845	Transcript	.	.	ENSG00000169359	95	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.72)	.	ACATN_HUMAN	SLC33A1	HGNC	.	.	UPI000006E3FD	SNV	SLC33A1,missense_variant,p.Ser10Asn,ENST00000392845,;SLC33A1,missense_variant,p.Ser10Asn,ENST00000359479,;SLC33A1,upstream_gene_variant,,ENST00000475842,;SLC33A1,upstream_gene_variant,,ENST00000460729,;SLC33A1,upstream_gene_variant,,ENST00000468581,;	410	170	158	SUCCESS
C3orf55	0	.	GRCh37	3	157296101	157296101	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	70	243	1	ENST00000449199.2:c.302+6269C>T		p.*101*	ENST00000449199	NM_001130002.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46943.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCTGCTG	NONE	.	.	.	.	.	ENSP00000413228	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449199	Transcript	.	.	ENSG00000174899	25146	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC055_HUMAN	C3orf55	HGNC	.	.	UPI0000161AB6	SNV	C3orf55,synonymous_variant,p.%3D,ENST00000312275,;C3orf55,3_prime_UTR_variant,,ENST00000459838,;C3orf55,intron_variant,,ENST00000461040,;C3orf55,intron_variant,,ENST00000449199,;C3orf55,intron_variant,,ENST00000426338,;	.	245	223	SUCCESS
GFM1	85476	.	GRCh37	3	158399992	158399992	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	24	0	ENST00000486715.1:c.1764+46A>C		p.*588*	ENST00000486715	NM_024996.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33885.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAGTTTA	NONE	.	.	.	.	.	ENSP00000419038	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000486715	Transcript	.	.	ENSG00000168827	13780	.	.	MODIFIER	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFGM_HUMAN	GFM1	HGNC	E5KND5_HUMAN,C9JA25_HUMAN	.	UPI000006232D	SNV	GFM1,3_prime_UTR_variant,,ENST00000478576,;GFM1,intron_variant,,ENST00000264263,;GFM1,intron_variant,,ENST00000486715,;GFM1,upstream_gene_variant,,ENST00000472383,;GFM1,intron_variant,,ENST00000481468,;GFM1,intron_variant,,ENST00000478254,;GFM1,intron_variant,,ENST00000477721,;	.	24	31	SUCCESS
SLITRK3	22865	.	GRCh37	3	164908372	164908372	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	34	0	ENST00000241274.3:c.247T>C	p.Tyr83His	p.Y83H	ENST00000241274	NM_014926.2	83	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS3197.1	247	MUTECT|MUSE	.	CAGATACAGTT	CODON|p.Y83Y|c.249T>C|3	.	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.548)	.	deleterious(0.03)	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,missense_variant,p.Tyr83His,ENST00000497724,;SLITRK3,missense_variant,p.Tyr83His,ENST00000475390,;SLITRK3,missense_variant,p.Tyr83His,ENST00000241274,;	691	34	30	SUCCESS
FNDC3B	64778	.	GRCh37	3	172048416	172048416	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	33	183	0	ENST00000336824.4:c.1465A>T	p.Thr489Ser	p.T489S	ENST00000336824	NM_001135095.1	489	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3217.1	1465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCACATGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000338523	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000336824	Transcript	.	.	ENSG00000075420	24670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.29)	.	FND3B_HUMAN	FNDC3B	HGNC	.	.	UPI00001AE8B2	SNV	FNDC3B,missense_variant,p.Thr489Ser,ENST00000416957,;FNDC3B,missense_variant,p.Thr489Ser,ENST00000415807,;FNDC3B,missense_variant,p.Thr489Ser,ENST00000336824,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000494000,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;	1564	183	202	SUCCESS
GNB4	59345	.	GRCh37	3	179119095	179119095	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	28	215	0	ENST00000232564.3:c.929G>C	p.Gly310Ala	p.G310A	ENST00000232564	NM_021629.3	310	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS3230.1	929	RADIA|MUTECT|MUSE|VARSCANS	.	CATGACCAGCA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850:SF28,hmmpanther:PTHR19850,Pfam_domain:PF00400,Gene3D:2.130.10.10,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000232564	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000232564	Transcript	.	.	ENSG00000114450	20731	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.113)	.	tolerated(0.09)	.	GBB4_HUMAN	GNB4	HGNC	C9JD14_HUMAN,B4DLV5_HUMAN	.	UPI000012B21A	SNV	GNB4,missense_variant,p.Gly310Ala,ENST00000232564,;GNB4,missense_variant,p.Val161Leu,ENST00000466899,;GNB4,missense_variant,p.Gly310Ala,ENST00000468623,;RP11-145M9.4,upstream_gene_variant,,ENST00000595265,;RP11-145M9.5,upstream_gene_variant,,ENST00000608131,;AC007620.3,downstream_gene_variant,,ENST00000600539,;AC007620.3,downstream_gene_variant,,ENST00000495081,;AC007620.3,downstream_gene_variant,,ENST00000598857,;	1216	215	202	SUCCESS
MCCC1	56922	.	GRCh37	3	182788806	182788806	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	23	134	0	ENST00000265594.4:c.742A>T	p.Lys248Ter	p.K248*	ENST00000265594	NM_020166.3	248	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS3241.1	742	RADIA|MUTECT|MUSE|VARSCANS	.	AAACTTCTCGA	NONE	.	.	PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF76,Pfam_domain:PF02786,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059	.	.	ENSP00000265594	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000265594	Transcript	.	.	ENSG00000078070	6936	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MCCA_HUMAN	MCCC1	HGNC	F5GYT8_HUMAN,F2Z3E2_HUMAN,E9PHF7_HUMAN	.	UPI000013D646	SNV	MCCC1,stop_gained,p.Lys113Ter,ENST00000539926,;MCCC1,stop_gained,p.Lys248Ter,ENST00000265594,;MCCC1,stop_gained,p.Lys201Ter,ENST00000476176,;MCCC1,stop_gained,p.Lys139Ter,ENST00000492597,;MCCC1,stop_gained,p.Lys210Ter,ENST00000497959,;MCCC1,3_prime_UTR_variant,,ENST00000497830,;MCCC1,3_prime_UTR_variant,,ENST00000495767,;MCCC1,3_prime_UTR_variant,,ENST00000490284,;MCCC1,downstream_gene_variant,,ENST00000487634,;MCCC1,downstream_gene_variant,,ENST00000466650,;MCCC1,downstream_gene_variant,,ENST00000486226,;	889	134	159	SUCCESS
MCF2L2	23101	.	GRCh37	3	183014728	183014728	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	87	0	ENST00000328913.3:c.1497+36G>A		p.*499*	ENST00000328913	NM_015078.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3243.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTTCCCAAC	NONE	.	.	.	.	.	ENSP00000328118	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODIFIER	12/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000414362,;B3GNT5,non_coding_transcript_exon_variant,,ENST00000462559,;B3GNT5,downstream_gene_variant,,ENST00000480551,;MCF2L2,intron_variant,,ENST00000488149,;MCF2L2,upstream_gene_variant,,ENST00000475664,;MCF2L2,downstream_gene_variant,,ENST00000459750,;MCF2L2,downstream_gene_variant,,ENST00000492331,;	.	87	95	SUCCESS
MUC4	4585	.	GRCh37	3	195507288	195507288	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	409	44	507	1	ENST00000463781.3:c.11163A>G	p.Val3721=	p.V3721=	ENST00000463781	NM_018406.6	3721	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS54700.1	11163	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATACTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	11623	508	453	SUCCESS
LRRC3B	116135	.	GRCh37	3	26751290	26751290	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	33	161	0	ENST00000396641.2:c.127T>G	p.Ser43Ala	p.S43A	ENST00000396641	NM_052953.2	43	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS2644.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCTGGG	NONE	.	.	hmmpanther:PTHR24365:SF134,hmmpanther:PTHR24365,Pfam_domain:PF01462,SMART_domains:SM00013	.	.	ENSP00000379880	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396641	Transcript	.	.	ENSG00000179796	28105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.75)	.	LRC3B_HUMAN	LRRC3B	HGNC	C9JMC7_HUMAN,C9J6A1_HUMAN	.	UPI000000D990	SNV	LRRC3B,missense_variant,p.Ser43Ala,ENST00000414619,;LRRC3B,missense_variant,p.Ser43Ala,ENST00000396641,;LRRC3B,missense_variant,p.Ser43Ala,ENST00000456208,;LRRC3B,missense_variant,p.Ser43Ala,ENST00000417744,;LRRC3B,missense_variant,p.Ser43Ala,ENST00000432040,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	719	161	141	SUCCESS
NEK10	152110	.	GRCh37	3	27161263	27161263	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs368155143	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	105	0	ENST00000429845.2:c.3349A>G	p.Asn1117Asp	p.N1117D	ENST00000429845		1117	Aat/Gat	0	C:0.0002	.	.	.	.	C	N/D	protein_coding	.	.	3349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATTTGGGG	NONE	byCluster	.	hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77	.	C:0	ENSP00000395849	.	36/39	.	.	.	.	.	.	.	.	rs368155143	36/39	PASS	ENST00000429845	Transcript	.	.	ENSG00000163491	18592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI0000EE2A86	SNV	NEK10,missense_variant,p.Asn1117Asp,ENST00000429845,;NEK10,missense_variant,p.Asn419Asp,ENST00000383771,;NEK10,missense_variant,p.Asn429Asp,ENST00000295720,;NEK10,missense_variant,p.Asn372Asp,ENST00000383770,;	3712	105	89	SUCCESS
CELSR3	1951	.	GRCh37	3	48697053	48697053	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	131	0	ENST00000164024.4:c.3015T>A	p.Asp1005Glu	p.D1005E	ENST00000164024	NM_001407.2	1005	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS2775.1	3015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCATCTTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50268	.	.	ENSP00000164024	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Asp1005Glu,ENST00000544264,;CELSR3,missense_variant,p.Asp1005Glu,ENST00000164024,;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	3296	131	108	SUCCESS
DUSP7	1849	.	GRCh37	3	52084943	52084943	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	45	274	0	ENST00000495880.1:c.1148G>A	p.Arg383Gln	p.R383Q	ENST00000495880		383	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33766.2	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCCGCTCA	NONE	.	.	PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF305,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,PIRSF_domain:PIRSF000939,Superfamily_domains:SSF52799	.	.	ENSP00000417183	.	3/3	.	.	.	.	.	.	.	.	COSM480268	3/3	PASS	ENST00000495880	Transcript	.	.	ENSG00000164086	3073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.38)	.	tolerated(0.16)	1	DUS7_HUMAN	DUSP7	HGNC	.	.	UPI0000185FA8	SNV	DUSP7,missense_variant,p.Arg383Gln,ENST00000495880,;DUSP7,missense_variant,p.Arg332Gln,ENST00000296483,;DUSP7,downstream_gene_variant,,ENST00000469623,;	1332	274	214	SUCCESS
BAP1	8314	.	GRCh37	3	52441334	52441334	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	56	100	0	ENST00000460680.1:c.438-2A>T		p.X146_splice	ENST00000460680	NM_004656.3	146		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2853.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGGGGA	NONE	.	.	.	.	.	ENSP00000417132	.	.	.	.	.	.	.	.	.	.	CS117950	.	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	6/16	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,splice_acceptor_variant,,ENST00000296288,;BAP1,splice_acceptor_variant,,ENST00000460680,;BAP1,splice_acceptor_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,splice_acceptor_variant,,ENST00000490917,;BAP1,splice_acceptor_variant,,ENST00000471532,;BAP1,intron_variant,,ENST00000483984,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	.	100	91	SUCCESS
CADPS	8618	.	GRCh37	3	62522190	62522190	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	57	194	0	ENST00000383710.4:c.2033A>T	p.His678Leu	p.H678L	ENST00000383710	NM_003716.3	678	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS46858.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGTGGTCA	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	deleterious(0)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.His678Leu,ENST00000357948,;CADPS,missense_variant,p.His23Leu,ENST00000468271,;CADPS,missense_variant,p.His678Leu,ENST00000383710,;CADPS,missense_variant,p.His109Leu,ENST00000478434,;CADPS,missense_variant,p.His177Leu,ENST00000542833,;CADPS,missense_variant,p.His678Leu,ENST00000283269,;CADPS,upstream_gene_variant,,ENST00000491424,;CADPS,non_coding_transcript_exon_variant,,ENST00000490424,;	2383	194	122	SUCCESS
CADPS	8618	.	GRCh37	3	62522191	62522191	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	57	195	0	ENST00000383710.4:c.2032C>A	p.His678Asn	p.H678N	ENST00000383710	NM_003716.3	678	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS46858.1	2032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTGGTCAA	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.His678Asn,ENST00000357948,;CADPS,missense_variant,p.His23Asn,ENST00000468271,;CADPS,missense_variant,p.His678Asn,ENST00000383710,;CADPS,missense_variant,p.His109Asn,ENST00000478434,;CADPS,missense_variant,p.His177Asn,ENST00000542833,;CADPS,missense_variant,p.His678Asn,ENST00000283269,;CADPS,upstream_gene_variant,,ENST00000491424,;CADPS,non_coding_transcript_exon_variant,,ENST00000490424,;	2382	195	123	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64640083	64640083	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1176731012	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	173	0	ENST00000498707.1:c.1262G>A	p.Ser421Asn	p.S421N	ENST00000498707	NM_182920.1	421	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS2903.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACTAATA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000418735	.	8/40	.	.	.	.	.	.	.	.	.	8/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.19)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Ser393Asn,ENST00000295903,;ADAMTS9,missense_variant,p.Ser421Asn,ENST00000459780,;ADAMTS9,missense_variant,p.Ser421Asn,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000467119,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000494004,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	1605	173	161	SUCCESS
GRM7	2917	.	GRCh37	3	7620822	7620822	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	36	218	0	ENST00000357716.4:c.2229C>T	p.Ala743=	p.A743=	ENST00000357716	NM_000844.3	743	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43042.1	2229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCAGAGG	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Pfam_domain:PF00003	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,synonymous_variant,p.%3D,ENST00000402647,;GRM7,synonymous_variant,p.%3D,ENST00000486284,;GRM7,synonymous_variant,p.%3D,ENST00000389336,;GRM7,synonymous_variant,p.%3D,ENST00000357716,;GRM7,synonymous_variant,p.%3D,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,synonymous_variant,p.%3D,ENST00000389335,;GRM7,synonymous_variant,p.%3D,ENST00000467425,;GRM7,synonymous_variant,p.%3D,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	2503	218	178	SUCCESS
HTR1F	3355	.	GRCh37	3	88040703	88040703	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	54	0	ENST00000319595.4:c.804C>T	p.Leu268=	p.L268=	ENST00000319595	NM_000866.3	268	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2920.1	804	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTCAGGTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF34,hmmpanther:PTHR24247,Pfam_domain:PF00001,Prints_domain:PR00515	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,synonymous_variant,p.%3D,ENST00000319595,;	858	54	46	SUCCESS
PROS1	5627	.	GRCh37	3	93624977	93624977	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	25	172	0	ENST00000394236.3:c.357C>A	p.Asp119Glu	p.D119E	ENST00000394236	NM_000313.3	119	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS2923.1	357	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGTCTGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24040,hmmpanther:PTHR24040:SF0,Gene3D:2.10.25.10,SMART_domains:SM00179	.	.	ENSP00000377783	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000394236	Transcript	.	.	ENSG00000184500	9456	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.529)	.	deleterious(0.02)	.	PROS_HUMAN	PROS1	HGNC	Q8IXD5_HUMAN,Q8IXD4_HUMAN,Q8IXD2_HUMAN,Q6J1N0_HUMAN,Q06F35_HUMAN,G5E9F8_HUMAN,C9K0R0_HUMAN,B4E1L6_HUMAN	.	UPI00001323E8	SNV	PROS1,missense_variant,p.Asp119Glu,ENST00000394236,;PROS1,missense_variant,p.Asp151Glu,ENST00000348974,;PROS1,5_prime_UTR_variant,,ENST00000472684,;PROS1,5_prime_UTR_variant,,ENST00000407433,;PROS1,non_coding_transcript_exon_variant,,ENST00000488658,;	674	172	181	SUCCESS
STX19	415117	.	GRCh37	3	93733261	93733261	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	41	0	ENST00000315099.2:c.853T>G	p.Cys285Gly	p.C285G	ENST00000315099	NM_001001850.2	285	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS33793.1	853	MUTECT|MUSE	.	CCAACAACACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF29,Gene3D:1.20.5.110	.	.	ENSP00000320679	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315099	Transcript	.	.	ENSG00000178750	19300	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.01)	.	STX19_HUMAN	STX19	HGNC	.	.	UPI00000471EA	SNV	STX19,missense_variant,p.Cys285Gly,ENST00000315099,;ARL13B,intron_variant,,ENST00000394222,;ARL13B,intron_variant,,ENST00000303097,;ARL13B,intron_variant,,ENST00000535334,;ARL13B,intron_variant,,ENST00000471138,;ARL13B,intron_variant,,ENST00000539730,;ARL13B,intron_variant,,ENST00000486562,;ARL13B,intron_variant,,ENST00000335438,;ARL13B,intron_variant,,ENST00000460371,;	1110	41	53	SUCCESS
GABRR3	200959	.	GRCh37	3	97753825	97753825	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	76	0	ENST00000472788.1:c.7C>T	p.Leu3=	p.L3=	ENST00000472788	NM_001105580.2	3	Ctg/Ttg	0	.	.	.	.	.	A	.	retained_intron	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGGACCA	NONE	.	.	.	.	.	.	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000470589	Transcript	.	.	ENSG00000183185	17969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GABRR3	HGNC	.	.	.	SNV	GABRR3,non_coding_transcript_exon_variant,,ENST00000470589,;GABRR3,synonymous_variant,p.%3D,ENST00000472788,;	124	76	92	SUCCESS
BRPF1	7862	.	GRCh37	3	9776289	9776289	+	synonymous_variant	Silent	SNP	G	G	A	rs1238620393	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	32	222	0	ENST00000457855.1:c.465G>A	p.Glu155=	p.E155=	ENST00000457855		155	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS33692.1	465	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGAAGCG	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF10513	.	.	ENSP00000373340	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,synonymous_variant,p.%3D,ENST00000457855,;BRPF1,synonymous_variant,p.%3D,ENST00000424362,;BRPF1,synonymous_variant,p.%3D,ENST00000433861,;BRPF1,synonymous_variant,p.%3D,ENST00000383829,;BRPF1,synonymous_variant,p.%3D,ENST00000302054,;BRPF1,downstream_gene_variant,,ENST00000426583,;CPNE9,downstream_gene_variant,,ENST00000383832,;BRPF1,downstream_gene_variant,,ENST00000420291,;	869	222	187	SUCCESS
ZNF518B	85460	.	GRCh37	4	10445461	10445461	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	25	123	0	ENST00000326756.3:c.2492G>A	p.Gly831Glu	p.G831E	ENST00000326756	NM_053042.2	831	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33960.1	2492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCCCCTT	NONE	.	.	hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032	.	.	ENSP00000317614	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000326756	Transcript	.	.	ENSG00000178163	29365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	Z518B_HUMAN	ZNF518B	HGNC	D6RDM9_HUMAN	.	UPI0000160B97	SNV	ZNF518B,missense_variant,p.Gly831Glu,ENST00000326756,;ZNF518B,downstream_gene_variant,,ENST00000507515,;	2931	123	127	SUCCESS
TET2	54790	.	GRCh37	4	106163573	106163573	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	40	0	ENST00000380013.4:c.3501-418A>G		p.*1167*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGAGACAT	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000413648,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000513237,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000265149,;	.	40	38	SUCCESS
SEC24B	10427	.	GRCh37	4	110442311	110442311	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	99	0	ENST00000265175.5:c.2284C>T	p.Leu762=	p.L762=	ENST00000265175	NM_006323.2	762	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47124.1	2284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATCTATAT	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF7,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000265175	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000265175	Transcript	.	.	ENSG00000138802	10704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC24B_HUMAN	SEC24B	HGNC	B4E2E1_HUMAN	.	UPI00004F6ED7	SNV	SEC24B,synonymous_variant,p.%3D,ENST00000265175,;SEC24B,synonymous_variant,p.%3D,ENST00000504968,;SEC24B,synonymous_variant,p.%3D,ENST00000399100,;	2339	99	56	SUCCESS
USP53	54532	.	GRCh37	4	120192951	120192951	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	122	0	ENST00000274030.6:c.1936A>T	p.Met646Leu	p.M646L	ENST00000274030	NM_019050.2	646	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS43265.1	1936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAATGAAG	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF6	.	.	ENSP00000409906	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000450251	Transcript	.	.	ENSG00000145390	29255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.67)	.	UBP53_HUMAN	USP53	HGNC	.	.	UPI0000251D9D	SNV	USP53,missense_variant,p.Met646Leu,ENST00000450251,;USP53,missense_variant,p.Met646Leu,ENST00000274030,;USP53,3_prime_UTR_variant,,ENST00000509769,;USP53,non_coding_transcript_exon_variant,,ENST00000510852,;USP53,downstream_gene_variant,,ENST00000507906,;	2480	122	94	SUCCESS
GRIA2	2891	.	GRCh37	4	158257592	158257592	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	42	154	0	ENST00000264426.9:c.1537T>A	p.Ser513Thr	p.S513T	ENST00000264426	NM_001083619.1	513	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS3797.1	1537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTCAAAG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000296526	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	tolerated(0.29)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ser513Thr,ENST00000264426,;GRIA2,missense_variant,p.Ser466Thr,ENST00000507898,;GRIA2,missense_variant,p.Ser466Thr,ENST00000393815,;GRIA2,missense_variant,p.Ser513Thr,ENST00000296526,;GRIA2,missense_variant,p.Ser466Thr,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,missense_variant,p.Ser466Thr,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	1862	154	138	SUCCESS
NAF1	92345	.	GRCh37	4	164061471	164061471	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1359592816	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	45	0	ENST00000274054.2:c.782A>G	p.His261Arg	p.H261R	ENST00000274054	NM_138386.2	261	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3803.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGTGATCT	NONE	.	.	hmmpanther:PTHR31991,Gene3D:2ey4D00,Pfam_domain:PF04410,Superfamily_domains:SSF50447	.	.	ENSP00000274054	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000274054	Transcript	.	.	ENSG00000145414	25126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	NAF1_HUMAN	NAF1	HGNC	.	.	UPI000013D9EB	SNV	NAF1,missense_variant,p.His261Arg,ENST00000274054,;NAF1,missense_variant,p.His261Arg,ENST00000422287,;NAF1,5_prime_UTR_variant,,ENST00000509434,;NAF1,non_coding_transcript_exon_variant,,ENST00000509232,;	976	45	51	SUCCESS
TLL1	7092	.	GRCh37	4	166976353	166976353	+	synonymous_variant	Silent	SNP	T	T	C	rs766550068	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	103	0	ENST00000061240.2:c.1650T>C	p.Asn550=	p.N550=	ENST00000061240	NM_012464.4	550	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS3811.1	1650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAATACTTT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	13/21	.	.	.	.	.	.	.	.	rs766550068	13/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,synonymous_variant,p.%3D,ENST00000061240,;TLL1,synonymous_variant,p.%3D,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2297	103	63	SUCCESS
ASB5	140458	.	GRCh37	4	177190077	177190077	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	109	0	ENST00000296525.3:c.183A>G	p.Val61=	p.V61=	ENST00000296525	NM_080874.3	61	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3827.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTTACTCC	NONE	.	.	hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13	.	.	ENSP00000296525	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000296525	Transcript	.	.	ENSG00000164122	17180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB5_HUMAN	ASB5	HGNC	Q5HYF3_HUMAN,D6R9Q2_HUMAN	.	UPI00000015CF	SNV	ASB5,synonymous_variant,p.%3D,ENST00000296525,;ASB5,downstream_gene_variant,,ENST00000505299,;	297	109	83	SUCCESS
CCDC110	256309	.	GRCh37	4	186366663	186366663	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs763280862	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	31	0	ENST00000307588.3:c.2495A>T	p.His832Leu	p.H832L	ENST00000307588	NM_152775.3	832	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS3843.1	2495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATGCTTG	NONE	.	.	hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF25	.	.	ENSP00000306776	.	7/7	.	.	.	.	.	.	.	.	rs763280862	7/7	PASS	ENST00000307588	Transcript	.	.	ENSG00000168491	28504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated_low_confidence(0.56)	.	CC110_HUMAN	CCDC110	HGNC	.	.	UPI0000070BFC	SNV	CCDC110,missense_variant,p.His832Leu,ENST00000307588,;CCDC110,missense_variant,p.His795Leu,ENST00000393540,;C4orf47,intron_variant,,ENST00000378850,;CCDC110,3_prime_UTR_variant,,ENST00000508538,;C4orf47,intron_variant,,ENST00000508698,;C4orf47,downstream_gene_variant,,ENST00000512770,;	2571	31	28	SUCCESS
MTNR1A	4543	.	GRCh37	4	187455096	187455096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	108	0	ENST00000307161.5:c.800G>A	p.Ser267Asn	p.S267N	ENST00000307161	NM_005958.3	267	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS3848.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCTGGCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01149	.	.	ENSP00000302811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307161	Transcript	.	.	ENSG00000168412	7463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.17)	.	MTR1A_HUMAN	MTNR1A	HGNC	.	.	UPI0000050407	SNV	MTNR1A,missense_variant,p.Ser267Asn,ENST00000307161,;RP11-215A19.2,intron_variant,,ENST00000509111,;	1002	108	124	SUCCESS
FAM114A1	92689	.	GRCh37	4	38910313	38910313	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	18	124	0	ENST00000358869.2:c.758A>G	p.Lys253Arg	p.K253R	ENST00000358869	NM_138389.2	253	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS3447.1	758	RADIA|MUTECT|MUSE|VARSCANS	.	GACCAAGACGC	NONE	.	.	Pfam_domain:PF05334,hmmpanther:PTHR12842:SF4,hmmpanther:PTHR12842	.	.	ENSP00000351740	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000358869	Transcript	.	.	ENSG00000197712	25087	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NXP20_HUMAN	FAM114A1	HGNC	Q6MZV4_HUMAN,D6R9C9_HUMAN,B3KSS5_HUMAN	.	UPI00001DFE17	SNV	FAM114A1,missense_variant,p.Lys253Arg,ENST00000358869,;FAM114A1,missense_variant,p.Lys46Arg,ENST00000515037,;	934	124	128	SUCCESS
GABRA4	2557	.	GRCh37	4	46967002	46967002	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	11	114	0	ENST00000264318.3:c.1119T>A	p.Pro373=	p.P373=	ENST00000264318	NM_000809.3	373	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3473.1	1119	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCAGGATG	NONE	.	.	Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	.	.	ENSP00000264318	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000264318	Transcript	.	.	ENSG00000109158	4078	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRA4_HUMAN	GABRA4	HGNC	.	.	UPI0000074200	SNV	GABRA4,synonymous_variant,p.%3D,ENST00000264318,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000508560,;	2102	114	101	SUCCESS
FRYL	285527	.	GRCh37	4	48607809	48607809	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	134	0	ENST00000358350.4:c.783A>T	p.Ile261=	p.I261=	ENST00000358350	NM_015030.1	261	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS43227.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTATATC	NONE	.	.	Pfam_domain:PF14222,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	11/64	.	.	.	.	.	.	.	.	.	11/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,synonymous_variant,p.%3D,ENST00000358350,;FRYL,synonymous_variant,p.%3D,ENST00000503238,;FRYL,synonymous_variant,p.%3D,ENST00000507711,;FRYL,synonymous_variant,p.%3D,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000506685,;FRYL,5_prime_UTR_variant,,ENST00000264319,;	1388	134	126	SUCCESS
KIAA1211	0	.	GRCh37	4	57181400	57181400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	16	0	ENST00000504228.1:c.1732G>T	p.Ala578Ser	p.A578S	ENST00000504228		578	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS43230.1	1732	MUTECT|MUSE	.	CCAAAGCCAGC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	.	.	ENSP00000423366	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.08)	.	tolerated(0.58)	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,missense_variant,p.Ala578Ser,ENST00000504228,;KIAA1211,missense_variant,p.Ala578Ser,ENST00000264229,;KIAA1211,missense_variant,p.Ala571Ser,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	1837	16	9	SUCCESS
LPHN3	0	.	GRCh37	4	62800605	62800605	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	60	199	0	ENST00000514591.1:c.1956T>A	p.Asn652Lys	p.N652K	ENST00000514591		652	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS54768.1	1956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAATGCATG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF12003	.	.	ENSP00000422533	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.86)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Asn720Lys,ENST00000507625,;LPHN3,missense_variant,p.Asn652Lys,ENST00000508946,;LPHN3,missense_variant,p.Asn652Lys,ENST00000506700,;LPHN3,missense_variant,p.Asn110Lys,ENST00000502815,;LPHN3,missense_variant,p.Asn720Lys,ENST00000509896,;LPHN3,missense_variant,p.Asn720Lys,ENST00000511324,;LPHN3,missense_variant,p.Asn652Lys,ENST00000545650,;LPHN3,missense_variant,p.Asn720Lys,ENST00000506720,;LPHN3,missense_variant,p.Asn652Lys,ENST00000504896,;LPHN3,missense_variant,p.Asn652Lys,ENST00000514591,;LPHN3,missense_variant,p.Asn720Lys,ENST00000508693,;LPHN3,missense_variant,p.Asn720Lys,ENST00000506746,;LPHN3,missense_variant,p.Asn652Lys,ENST00000514996,;LPHN3,missense_variant,p.Asn652Lys,ENST00000512091,;LPHN3,missense_variant,p.Asn652Lys,ENST00000514157,;LPHN3,missense_variant,p.Asn720Lys,ENST00000507164,;LPHN3,non_coding_transcript_exon_variant,,ENST00000508078,;	2285	199	221	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86852134	86852134	+	intron_variant	Intron	SNP	A	A	T	rs746134846	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	18	140	0	ENST00000395184.1:c.391+7211A>T		p.*131*	ENST00000395184	NM_001025616.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34025.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAACTCC	NONE	byFrequency	.	.	.	.	ENSP00000378611	.	.	.	.	.	.	.	.	.	.	rs746134846	.	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,synonymous_variant,p.%3D,ENST00000264343,;ARHGAP24,intron_variant,,ENST00000509300,;ARHGAP24,intron_variant,,ENST00000503995,;ARHGAP24,intron_variant,,ENST00000514229,;ARHGAP24,intron_variant,,ENST00000395184,;ARHGAP24,intron_variant,,ENST00000395183,;ARHGAP24,intron_variant,,ENST00000512201,;ARHGAP24,intron_variant,,ENST00000502537,;ARHGAP24,intron_variant,,ENST00000503917,;	.	140	84	SUCCESS
SEMA6A	57556	.	GRCh37	5	115811300	115811300	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	63	0	ENST00000343348.6:c.1650-1G>C		p.X550_splice	ENST00000343348	NM_020796.3	550		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47256.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCTTTTA	NONE	.	.	.	.	.	ENSP00000345512	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343348	Transcript	.	.	ENSG00000092421	10738	.	.	HIGH	15/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM6A_HUMAN	SEMA6A	HGNC	D6RCR0_HUMAN,D6RAG9_HUMAN	.	UPI000020C463	SNV	SEMA6A,splice_acceptor_variant,,ENST00000510263,;SEMA6A,splice_acceptor_variant,,ENST00000515129,;SEMA6A,splice_acceptor_variant,,ENST00000257414,;SEMA6A,splice_acceptor_variant,,ENST00000282394,;SEMA6A,splice_acceptor_variant,,ENST00000343348,;CTB-118N6.3,intron_variant,,ENST00000510682,;CTB-118N6.3,intron_variant,,ENST00000514214,;CTB-118N6.3,intron_variant,,ENST00000508640,;CTB-118N6.3,downstream_gene_variant,,ENST00000508424,;CTB-118N6.3,downstream_gene_variant,,ENST00000507558,;SEMA6A,splice_acceptor_variant,,ENST00000506114,;SEMA6A,downstream_gene_variant,,ENST00000514316,;	.	63	72	SUCCESS
ZNF608	57507	.	GRCh37	5	123983011	123983011	+	synonymous_variant	Silent	SNP	A	A	G	rs1178526662	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	29	155	0	ENST00000306315.5:c.3066T>C	p.Ser1022=	p.S1022=	ENST00000306315	NM_020747.2	1022	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS34219.1	3066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCACTATT	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,synonymous_variant,p.%3D,ENST00000306315,;ZNF608,synonymous_variant,p.%3D,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000505686,;	3502	155	162	SUCCESS
SLC27A6	28965	.	GRCh37	5	128301787	128301787	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	24	132	1	ENST00000262462.4:c.-44G>A		p.*15*	ENST00000262462				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4145.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTGGTGGG	NONE	.	.	.	.	.	ENSP00000262462	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,5_prime_UTR_variant,,ENST00000506176,;SLC27A6,5_prime_UTR_variant,,ENST00000395266,;SLC27A6,5_prime_UTR_variant,,ENST00000262462,;SLC27A6,intron_variant,,ENST00000508645,;	967	133	145	SUCCESS
JADE2	23338	.	GRCh37	5	133914456	133914456	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	86	0	ENST00000395003.1:c.1822C>T	p.Pro608Ser	p.P608S	ENST00000395003	NM_015288.4	608	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4176.1	1822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACCACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84	.	.	ENSP00000378451	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000395003	Transcript	.	.	ENSG00000043143	22984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.74)	.	JADE2_HUMAN	JADE2	HGNC	D6R9B8_HUMAN,C9J929_HUMAN	.	UPI00002331C9	SNV	JADE2,missense_variant,p.Pro608Ser,ENST00000395003,;JADE2,missense_variant,p.Pro652Ser,ENST00000282605,;JADE2,missense_variant,p.Pro609Ser,ENST00000361895,;JADE2,3_prime_UTR_variant,,ENST00000402835,;JADE2,3_prime_UTR_variant,,ENST00000430087,;JADE2,downstream_gene_variant,,ENST00000470876,;	2001	86	64	SUCCESS
DDX46	9879	.	GRCh37	5	134121190	134121190	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757869608	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	10	75	0	ENST00000354283.4:c.1378C>G	p.Gln460Glu	p.Q460E	ENST00000354283		460	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS34240.1	1378	MUTECT|MUSE|VARSCANS	.	CTTTACAGATT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000346236	.	11/23	.	.	.	.	.	.	.	.	rs757869608	11/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,missense_variant,p.Gln460Glu,ENST00000354283,;DDX46,missense_variant,p.Gln460Glu,ENST00000452510,;DDX46,non_coding_transcript_exon_variant,,ENST00000509178,;DDX46,missense_variant,p.Gln412Glu,ENST00000507392,;DDX46,3_prime_UTR_variant,,ENST00000513592,;DDX46,downstream_gene_variant,,ENST00000513987,;DDX46,downstream_gene_variant,,ENST00000505592,;DDX46,upstream_gene_variant,,ENST00000503946,;	1513	75	108	SUCCESS
DNAH5	1767	.	GRCh37	5	13692155	13692155	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	17	128	0	ENST00000265104.4:c.13813A>G	p.Thr4605Ala	p.T4605A	ENST00000265104	NM_001369.2	4605	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3882.1	13813	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTCCTGA	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	79/79	.	.	.	.	.	.	.	.	.	79/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.523)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Thr4605Ala,ENST00000265104,;	13918	128	153	SUCCESS
WNT8A	7478	.	GRCh37	5	137426301	137426301	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	16	114	0	ENST00000398754.1:c.595G>C	p.Ala199Pro	p.A199P	ENST00000398754	NM_058244.2	199	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS43368.1	595	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGCTGAA	NONE	.	.	hmmpanther:PTHR12027:SF92,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000381739	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000398754	Transcript	.	.	ENSG00000061492	12788	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.31)	.	WNT8A_HUMAN	WNT8A	HGNC	.	.	UPI00000443FE	SNV	WNT8A,missense_variant,p.Ala217Pro,ENST00000504809,;WNT8A,missense_variant,p.Ala199Pro,ENST00000398754,;WNT8A,missense_variant,p.Ala217Pro,ENST00000506684,;WNT8A,missense_variant,p.Ala199Pro,ENST00000361560,;	600	114	133	SUCCESS
CTNNA1	1495	.	GRCh37	5	138266252	138266252	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	35	276	1	ENST00000302763.7:c.2101G>T	p.Glu701Ter	p.E701*	ENST00000302763	NM_001903.2	701	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34243.1	2101	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGAAGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220	.	.	ENSP00000304669	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,stop_gained,p.Glu331Ter,ENST00000540387,;CTNNA1,stop_gained,p.Glu701Ter,ENST00000518825,;CTNNA1,stop_gained,p.Glu701Ter,ENST00000302763,;CTNNA1,stop_gained,p.Glu598Ter,ENST00000355078,;CTNNA1,upstream_gene_variant,,ENST00000520520,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000521387,;CTNNA1,downstream_gene_variant,,ENST00000521368,;CTNNA1,upstream_gene_variant,,ENST00000522792,;	2191	277	272	SUCCESS
PSD2	84249	.	GRCh37	5	139219614	139219614	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	15	166	0	ENST00000274710.3:c.1971G>A		p.X657_splice	ENST00000274710	NM_032289.2	657	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS4216.1	1971	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGGAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	.	ENSP00000274710	.	14/15	.	.	.	.	.	.	.	.	COSM3428950	14/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,synonymous_variant,p.%3D,ENST00000274710,;	2176	166	144	SUCCESS
NRG2	9542	.	GRCh37	5	139239488	139239488	+	intron_variant	Intron	SNP	C	C	T	rs751821744	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	27	187	0	ENST00000361474.1:c.1190-4125G>A		p.*397*	ENST00000361474	NM_004883.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4217.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCCAAGG	NONE	.	.	.	.	.	ENSP00000354910	.	.	.	.	.	.	.	.	.	.	rs751821744	.	PASS	ENST00000361474	Transcript	.	.	ENSG00000158458	7998	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRG2_HUMAN	NRG2	HGNC	.	.	UPI0000130507	SNV	NRG2,missense_variant,p.Gly394Glu,ENST00000358522,;NRG2,missense_variant,p.Gly400Glu,ENST00000289422,;NRG2,intron_variant,,ENST00000541337,;NRG2,intron_variant,,ENST00000545385,;NRG2,intron_variant,,ENST00000340391,;NRG2,intron_variant,,ENST00000361474,;NRG2,intron_variant,,ENST00000289409,;NRG2,intron_variant,,ENST00000378238,;NRG2,intron_variant,,ENST00000394770,;CTB-35F21.4,downstream_gene_variant,,ENST00000504413,;	.	187	211	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140348722	140348722	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1326685727	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	29	137	1	ENST00000289269.5:c.2371T>A	p.Tyr791Asn	p.Y791N	ENST00000289269	NM_018899.5	791	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS4242.1	2371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTACTGC	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,missense_variant,p.Tyr791Asn,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2903	138	154	SUCCESS
PCDHB1	29930	.	GRCh37	5	140432602	140432602	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs116101801	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	38	118	1	ENST00000306549.3:c.1547C>A	p.Ala516Glu	p.A516E	ENST00000306549	NM_013340.2	516	gCg/gAg	0	.	T:0	.	T:0	.	A	A/E	protein_coding	YES	CCDS4243.1	1547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACGCGCTGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	T:0	.	ENSP00000307234	T:0.001	1/1	.	.	.	.	.	.	.	.	rs116101801,COSM3851358	1/1	PASS	ENST00000306549	Transcript	.	T:0.0002	ENSG00000171815	8680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	T:0	deleterious(0)	0,1	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,missense_variant,p.Ala516Glu,ENST00000306549,;	1624	119	137	SUCCESS
PCDHGA1	56114	.	GRCh37	5	140711003	140711003	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	60	0	ENST00000517417.1:c.752T>C	p.Val251Ala	p.V251A	ENST00000517417	NM_018912.2	251	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS54922.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTCCCCG	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF108,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000431083	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000517417	Transcript	.	.	ENSG00000204956	8696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious_low_confidence(0)	.	PCDG1_HUMAN	PCDHGA1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070596	SNV	PCDHGA1,missense_variant,p.Val251Ala,ENST00000517417,;PCDHGA1,missense_variant,p.Val251Ala,ENST00000378105,;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	752	60	54	SUCCESS
PCDH1	5097	.	GRCh37	5	141248811	141248811	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	109	0	ENST00000394536.3:c.226A>T	p.Ser76Cys	p.S76C	ENST00000394536	NM_002587.4	76	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS4267.1	226	MUTECT|MUSE	.	GAGGCTCCCAA	NONE	.	.	Pfam_domain:PF08266,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000287008	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,missense_variant,p.Ser54Cys,ENST00000536585,;PCDH1,missense_variant,p.Ser54Cys,ENST00000514773,;PCDH1,missense_variant,p.Ser76Cys,ENST00000456271,;PCDH1,missense_variant,p.Ser76Cys,ENST00000287008,;PCDH1,missense_variant,p.Ser76Cys,ENST00000503492,;PCDH1,missense_variant,p.Ser76Cys,ENST00000394536,;PCDH1,missense_variant,p.Ser87Cys,ENST00000357517,;PCDH1,upstream_gene_variant,,ENST00000511044,;PCDH1,upstream_gene_variant,,ENST00000505937,;PCDH1,upstream_gene_variant,,ENST00000515351,;	374	109	94	SUCCESS
KCTD16	57528	.	GRCh37	5	143853260	143853260	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	271	48	295	0	ENST00000507359.3:c.870C>G	p.Cys290Trp	p.C290W	ENST00000507359	NM_020768.3	290	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS34260.1	870	RADIA|MUTECT|MUSE|VARSCANS	.	GATTGCTGCTG	NONE	.	.	hmmpanther:PTHR14499:SF28,hmmpanther:PTHR14499,Low_complexity_(Seg):seg	.	.	ENSP00000426548	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000507359	Transcript	.	.	ENSG00000183775	29244	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.793)	.	tolerated(0.06)	.	KCD16_HUMAN	KCTD16	HGNC	.	.	UPI000004A046	SNV	KCTD16,missense_variant,p.Cys290Trp,ENST00000507359,;KCTD16,missense_variant,p.Cys290Trp,ENST00000512467,;	1961	295	320	SUCCESS
SPINK6	404203	.	GRCh37	5	147593570	147593570	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	62	0	ENST00000325630.2:c.179C>T	p.Ala60Val	p.A60V	ENST00000325630	NM_205841.3	60	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34268.1	179	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCCTTCT	NONE	.	.	Superfamily_domains:SSF100895,SMART_domains:SM00280,Gene3D:1.10.1890.10,Pfam_domain:PF00050,PROSITE_patterns:PS00282,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF42,PROSITE_profiles:PS51465	.	.	ENSP00000324870	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000325630	Transcript	.	.	ENSG00000178172	29486	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.744)	.	deleterious(0.01)	.	ISK6_HUMAN	SPINK6	HGNC	D6RGX9_HUMAN	.	UPI000004BA6C	SNV	SPINK6,missense_variant,p.Ala60Val,ENST00000325630,;SPINK6,downstream_gene_variant,,ENST00000514389,;	435	62	69	SUCCESS
SLC36A2	153201	.	GRCh37	5	150715069	150715069	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	64	167	0	ENST00000335244.4:c.565T>C	p.Ser189Pro	p.S189P	ENST00000335244	NM_181776.2	189	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4315.1	565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGAATAGC	NONE	.	.	hmmpanther:PTHR22950:SF185,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000334223	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000335244	Transcript	1	.	ENSG00000186335	18762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.89)	.	S36A2_HUMAN	SLC36A2	HGNC	E5RGH8_HUMAN	.	UPI000020D008	SNV	SLC36A2,missense_variant,p.Ser189Pro,ENST00000521967,;SLC36A2,missense_variant,p.Ser189Pro,ENST00000335244,;SLC36A2,upstream_gene_variant,,ENST00000450886,;SLC36A2,upstream_gene_variant,,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;SLC36A2,downstream_gene_variant,,ENST00000522829,;	695	167	206	SUCCESS
FAT2	2196	.	GRCh37	5	150945319	150945319	+	synonymous_variant	Silent	SNP	G	G	A	rs542235186	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	17	129	0	ENST00000261800.5:c.3174C>T	p.Asp1058=	p.D1058=	ENST00000261800	NM_001447.2	1058	gaC/gaT	0	.	A:0.0008	.	A:0	.	A	D	protein_coding	YES	CCDS4317.1	3174	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGTCCTG	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	A:0	.	ENSP00000261800	A:0	1/23	.	.	.	.	.	.	.	.	rs542235186	1/23	PASS	ENST00000261800	Transcript	.	A:0.0004	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	3187	129	118	SUCCESS
NMUR2	56923	.	GRCh37	5	151775082	151775082	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	49	264	0	ENST00000255262.3:c.875G>C	p.Ser292Thr	p.S292T	ENST00000255262	NM_020167.4	292	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS4321.1	875	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCTGAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01567,Prints_domain:PR01565	.	.	ENSP00000255262	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,missense_variant,p.Ser292Thr,ENST00000255262,;NMUR2,non_coding_transcript_exon_variant,,ENST00000518933,;	1041	264	285	SUCCESS
EBF1	1879	.	GRCh37	5	158250310	158250310	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	19	85	0	ENST00000313708.6:c.652A>G	p.Thr218Ala	p.T218A	ENST00000313708	NM_024007.3	218	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS4343.1	652	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTCGTAG	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	8/16	.	.	.	.	.	.	.	.	COSM3393387	8/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.176)	.	deleterious(0.04)	1	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,missense_variant,p.Thr195Ala,ENST00000380654,;EBF1,missense_variant,p.Thr218Ala,ENST00000313708,;EBF1,missense_variant,p.Thr218Ala,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000523464,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;	935	85	124	SUCCESS
GABRA6	2559	.	GRCh37	5	161116665	161116665	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	66	0	ENST00000274545.5:c.553A>G	p.Ile185Val	p.I185V	ENST00000274545		185	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4356.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCATATAT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000274545	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.76)	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,missense_variant,p.Ile175Val,ENST00000523217,;GABRA6,missense_variant,p.Ile125Val,ENST00000520000,;GABRA6,missense_variant,p.Ile185Val,ENST00000274545,;GABRA6,missense_variant,p.Ile132Val,ENST00000517823,;GABRA6,missense_variant,p.Ile105Val,ENST00000523691,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	986	66	73	SUCCESS
DOCK2	1794	.	GRCh37	5	169504811	169504811	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	51	1	ENST00000256935.8:c.4964G>A	p.Cys1655Tyr	p.C1655Y	ENST00000256935	NM_004946.2	1655	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS4371.1	4964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTGCAGCA	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	48/52	.	.	.	.	.	.	.	.	.	48/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.1)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Cys716Tyr,ENST00000540750,;DOCK2,missense_variant,p.Cys1655Tyr,ENST00000256935,;DOCK2,missense_variant,p.Cys1147Tyr,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	5044	52	52	SUCCESS
SFXN1	94081	.	GRCh37	5	174937183	174937183	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	19	162	1	ENST00000321442.5:c.407G>A	p.Arg136Lys	p.R136K	ENST00000321442	NM_022754.5	136	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS4394.1	407	RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGAAGTG	NONE	.	.	hmmpanther:PTHR11153:SF21,hmmpanther:PTHR11153,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820	.	.	ENSP00000316905	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000321442	Transcript	.	.	ENSG00000164466	16085	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	SFXN1_HUMAN	SFXN1	HGNC	D6RFI0_HUMAN,D6RDG7_HUMAN	.	UPI0000044799	SNV	SFXN1,missense_variant,p.Arg136Lys,ENST00000506963,;SFXN1,missense_variant,p.Arg136Lys,ENST00000507017,;SFXN1,missense_variant,p.Arg136Lys,ENST00000502393,;SFXN1,missense_variant,p.Arg136Lys,ENST00000321442,;SFXN1,3_prime_UTR_variant,,ENST00000502865,;SFXN1,3_prime_UTR_variant,,ENST00000507823,;SFXN1,non_coding_transcript_exon_variant,,ENST00000513725,;SFXN1,upstream_gene_variant,,ENST00000515736,;SFXN1,downstream_gene_variant,,ENST00000508290,;	661	163	164	SUCCESS
EIF4E1B	253314	.	GRCh37	5	176072878	176072878	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	44	212	0	ENST00000318682.6:c.626A>G	p.Lys209Arg	p.K209R	ENST00000318682	NM_001099408.1	209	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS47345.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAAAGAGC	NONE	.	.	Superfamily_domains:SSF55418,Gene3D:3.30.760.10,Pfam_domain:PF01652,hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF3	.	.	ENSP00000323714	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000318682	Transcript	.	.	ENSG00000175766	33179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.04)	.	I4E1B_HUMAN	EIF4E1B	HGNC	D6RHE2_HUMAN	.	UPI0001572CC7	SNV	EIF4E1B,missense_variant,p.Lys209Arg,ENST00000318682,;EIF4E1B,missense_variant,p.Lys209Arg,ENST00000504597,;EIF4E1B,synonymous_variant,p.%3D,ENST00000505497,;TSPAN17,upstream_gene_variant,,ENST00000503045,;TSPAN17,upstream_gene_variant,,ENST00000508164,;TSPAN17,upstream_gene_variant,,ENST00000507471,;EIF4E1B,downstream_gene_variant,,ENST00000510660,;TSPAN17,upstream_gene_variant,,ENST00000310032,;TSPAN17,upstream_gene_variant,,ENST00000298564,;TSPAN17,upstream_gene_variant,,ENST00000515708,;TSPAN17,upstream_gene_variant,,ENST00000504168,;TSPAN17,upstream_gene_variant,,ENST00000405525,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000512734,;EIF4E1B,downstream_gene_variant,,ENST00000510473,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000515458,;TSPAN17,upstream_gene_variant,,ENST00000503030,;TSPAN17,upstream_gene_variant,,ENST00000514705,;EIF4E1B,downstream_gene_variant,,ENST00000503895,;	1210	212	240	SUCCESS
ZFP2	80108	.	GRCh37	5	178359572	178359572	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766251937	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	49	0	ENST00000361362.2:c.1258A>G	p.Ile420Val	p.I420V	ENST00000361362	NM_030613.2	420	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4440.1	1258	RADIA|MUTECT|VARSCANS	.	CCTTCATTAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF183,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	rs766251937	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.732)	.	tolerated(0.16)	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,missense_variant,p.Ile420Val,ENST00000520301,;ZFP2,missense_variant,p.Ile420Val,ENST00000503510,;ZFP2,missense_variant,p.Ile420Val,ENST00000361362,;ZFP2,missense_variant,p.Ile420Val,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1788	49	47	SUCCESS
GZMK	3003	.	GRCh37	5	54320546	54320546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	21	125	0	ENST00000231009.2:c.123G>A	p.Met41Ile	p.M41I	ENST00000231009	NM_002104.2	41	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3964.1	123	RADIA|MUTECT|MUSE|VARSCANS	.	TTTATGGCCTC	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24272:SF50,hmmpanther:PTHR24272,PROSITE_profiles:PS50240	.	.	ENSP00000231009	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000231009	Transcript	.	.	ENSG00000113088	4711	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	GRAK_HUMAN	GZMK	HGNC	.	.	UPI0000001C46	SNV	GZMK,missense_variant,p.Met41Ile,ENST00000231009,;ESM1,upstream_gene_variant,,ENST00000601836,;CTD-2313F11.1,non_coding_transcript_exon_variant,,ENST00000607910,;CTD-2313F11.1,intron_variant,,ENST00000608929,;CTD-2313F11.1,intron_variant,,ENST00000596909,;CTD-2313F11.1,intron_variant,,ENST00000596137,;CTD-2313F11.1,intron_variant,,ENST00000595218,;CTD-2313F11.1,intron_variant,,ENST00000608466,;CTD-2313F11.1,downstream_gene_variant,,ENST00000609699,;CTD-2313F11.1,upstream_gene_variant,,ENST00000371487,;CTD-2313F11.1,downstream_gene_variant,,ENST00000609792,;ESM1,upstream_gene_variant,,ENST00000598310,;CTD-2313F11.1,upstream_gene_variant,,ENST00000608975,;	193	126	142	SUCCESS
ANKRA2	57763	.	GRCh37	5	72857022	72857022	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	21	194	0	ENST00000296785.3:c.381A>G	p.Lys127=	p.K127=	ENST00000296785	NM_023039.4	127	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS4020.1	381	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTTTTAT	NONE	.	.	hmmpanther:PTHR24124:SF3,hmmpanther:PTHR24124	.	.	ENSP00000296785	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000296785	Transcript	.	.	ENSG00000164331	13208	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANRA2_HUMAN	ANKRA2	HGNC	.	.	UPI0000125B54	SNV	ANKRA2,synonymous_variant,p.%3D,ENST00000296785,;ANKRA2,intron_variant,,ENST00000504641,;UTP15,upstream_gene_variant,,ENST00000509005,;UTP15,upstream_gene_variant,,ENST00000508491,;UTP15,upstream_gene_variant,,ENST00000543251,;UTP15,upstream_gene_variant,,ENST00000513824,;UTP15,upstream_gene_variant,,ENST00000508686,;UTP15,upstream_gene_variant,,ENST00000296792,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000506130,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000515804,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000514916,;UTP15,upstream_gene_variant,,ENST00000510478,;ANKRA2,downstream_gene_variant,,ENST00000509433,;	1040	194	207	SUCCESS
AP3B1	8546	.	GRCh37	5	77409598	77409598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	79	0	ENST00000255194.6:c.2227A>G	p.Asn743Asp	p.N743D	ENST00000255194		743	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS4041.1	2227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTTCCTCT	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Pfam_domain:PF14797,PIRSF_domain:PIRSF037096	.	.	ENSP00000255194	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000255194	Transcript	1	.	ENSG00000132842	566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.54)	.	AP3B1_HUMAN	AP3B1	HGNC	E5RJ68_HUMAN	.	UPI00001AE77D	SNV	AP3B1,missense_variant,p.Asn743Asp,ENST00000255194,;AP3B1,missense_variant,p.Asn694Asp,ENST00000519295,;AP3B1,upstream_gene_variant,,ENST00000519888,;AP3B1,non_coding_transcript_exon_variant,,ENST00000517940,;	2403	79	62	SUCCESS
ADCY2	108	.	GRCh37	5	7743819	7743819	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	41	237	0	ENST00000338316.4:c.1910T>C	p.Leu637Pro	p.L637P	ENST00000338316	NM_020546.2	637	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS3872.2	1910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTCTTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.33)	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Leu637Pro,ENST00000338316,;ADCY2,missense_variant,p.Leu457Pro,ENST00000537121,;RP11-711G10.1,intron_variant,,ENST00000514105,;	1999	237	223	SUCCESS
BRD9	65980	.	GRCh37	5	889840	889840	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	41	0	ENST00000467963.1:c.401-78A>G		p.*134*	ENST00000467963	NM_023924.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34127.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGTCTG	NONE	.	.	.	.	.	ENSP00000419765	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000467963	Transcript	.	.	ENSG00000028310	25818	.	.	MODIFIER	3/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRD9_HUMAN	BRD9	HGNC	.	.	UPI000020BEBE	SNV	BRD9,5_prime_UTR_variant,,ENST00000489093,;BRD9,5_prime_UTR_variant,,ENST00000435709,;BRD9,intron_variant,,ENST00000467963,;BRD9,intron_variant,,ENST00000483173,;BRD9,upstream_gene_variant,,ENST00000323510,;BRD9,upstream_gene_variant,,ENST00000388890,;TRIP13,upstream_gene_variant,,ENST00000513435,;TRIP13,upstream_gene_variant,,ENST00000166345,;BRD9,upstream_gene_variant,,ENST00000494422,;TRIP13,upstream_gene_variant,,ENST00000508456,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,3_prime_UTR_variant,,ENST00000487688,;BRD9,3_prime_UTR_variant,,ENST00000466684,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;TRIP13,upstream_gene_variant,,ENST00000512024,;	.	41	57	SUCCESS
MCTP1	79772	.	GRCh37	5	94114816	94114816	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	30	165	0	ENST00000515393.1:c.2609A>T	p.Lys870Met	p.K870M	ENST00000515393	NM_024717.4	870	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS34203.1	2609	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTTGTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,missense_variant,p.Lys563Met,ENST00000429576,;MCTP1,missense_variant,p.Lys870Met,ENST00000515393,;MCTP1,missense_variant,p.Lys649Met,ENST00000312216,;MCTP1,missense_variant,p.Lys590Met,ENST00000508509,;MCTP1,missense_variant,p.Lys386Met,ENST00000505078,;MCTP1,splice_region_variant,,ENST00000514040,;	2609	165	199	SUCCESS
FAM81B	153643	.	GRCh37	5	94749823	94749823	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202064996	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	33	141	0	ENST00000283357.5:c.466G>T	p.Ala156Ser	p.A156S	ENST00000283357	NM_152548.2	156	Gcc/Tcc	0	.	A:0.0008	.	A:0	.	T	A/S	protein_coding	YES	CCDS43341.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGCCAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF3	A:0	.	ENSP00000283357	A:0	4/10	.	.	.	.	.	.	.	.	rs202064996,COSM304688	4/10	PASS	ENST00000283357	Transcript	.	A:0.0002	ENSG00000153347	26335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.983)	A:0	tolerated(0.1)	0,1	FA81B_HUMAN	FAM81B	HGNC	.	.	UPI000045731A	SNV	FAM81B,missense_variant,p.Ala156Ser,ENST00000283357,;FAM81B,downstream_gene_variant,,ENST00000510458,;FAM81B,missense_variant,p.Ala106Ser,ENST00000507832,;FAM81B,missense_variant,p.Ala102Ser,ENST00000503361,;FAM81B,synonymous_variant,p.%3D,ENST00000513529,;FAM81B,3_prime_UTR_variant,,ENST00000503099,;	512	141	168	SUCCESS
CHD1	1105	.	GRCh37	5	98212136	98212136	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	84	0	ENST00000284049.3:c.3364A>G	p.Asn1122Asp	p.N1122D	ENST00000284049	NM_001270.2	1122	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS34204.1	3364	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTCTCCC	NONE	.	.	hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799	.	.	ENSP00000284049	.	23/35	.	.	.	.	.	.	.	.	.	23/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.306)	.	tolerated(0.62)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Asn1122Asp,ENST00000284049,;CHD1,upstream_gene_variant,,ENST00000508756,;CHD1,upstream_gene_variant,,ENST00000514344,;CHD1,downstream_gene_variant,,ENST00000511628,;	3514	84	93	SUCCESS
ASCC3	10973	.	GRCh37	6	100960788	100960788	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	15	67	0	ENST00000369162.2:c.6082A>T	p.Asn2028Tyr	p.N2028Y	ENST00000369162	NM_006828.2	2028	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5046.1	6082	RADIA|MUTECT|MUSE|VARSCANS	.	GAAATTCCATG	NONE	.	.	Pfam_domain:PF02889,SMART_domains:SM00611,SMART_domains:SM00973,Superfamily_domains:SSF158702	.	.	ENSP00000358159	.	40/42	.	.	.	.	.	.	.	.	.	40/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.126)	.	deleterious(0.03)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Asn2028Tyr,ENST00000369162,;ASCC3,upstream_gene_variant,,ENST00000518006,;	6427	67	106	SUCCESS
AIM1	0	.	GRCh37	6	106987360	106987360	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	19	121	0	ENST00000369066.3:c.3577G>A	p.Asp1193Asn	p.D1193N	ENST00000369066	NM_001624.2	1193	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS34506.1	3577	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGATACA	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695	.	.	ENSP00000358062	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	tolerated(0.43)	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,missense_variant,p.Asp1193Asn,ENST00000369066,;AIM1,upstream_gene_variant,,ENST00000457437,;AIM1,upstream_gene_variant,,ENST00000535438,;	4064	121	158	SUCCESS
OSTM1	28962	.	GRCh37	6	108372335	108372335	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	26	151	0	ENST00000193322.3:c.683A>T	p.Tyr228Phe	p.Y228F	ENST00000193322	NM_014028.3	228	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS5062.1	683	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTATGCT	NONE	.	.	hmmpanther:PTHR15644:SF1,hmmpanther:PTHR15644,Pfam_domain:PF09777	.	.	ENSP00000193322	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000193322	Transcript	.	.	ENSG00000081087	21652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OSTM1_HUMAN	OSTM1	HGNC	E5RFY7_HUMAN	.	UPI00000472C4	SNV	OSTM1,missense_variant,p.Tyr81Phe,ENST00000440575,;OSTM1,missense_variant,p.Tyr228Phe,ENST00000193322,;OSTM1,upstream_gene_variant,,ENST00000477774,;OSTM1,upstream_gene_variant,,ENST00000472669,;	769	151	209	SUCCESS
RFX6	222546	.	GRCh37	6	117248312	117248312	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	13	129	0	ENST00000332958.2:c.2008C>T	p.Pro670Ser	p.P670S	ENST00000332958	NM_173560.3	670	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS5113.1	2008	MUTECT|MUSE	.	TGGGCCCAGTA	NONE	.	.	hmmpanther:PTHR12619:SF16,hmmpanther:PTHR12619	.	.	ENSP00000332208	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000332958	Transcript	.	.	ENSG00000185002	21478	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.57)	.	RFX6_HUMAN	RFX6	HGNC	.	.	UPI00001609BE	SNV	RFX6,missense_variant,p.Pro670Ser,ENST00000332958,;RFX6,downstream_gene_variant,,ENST00000487683,;	2024	129	179	SUCCESS
MIR548B	693128	.	GRCh37	6	119390243	119390243	+	mature_miRNA_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	258	32	186	0	ENST00000385247.1:n.66A>C		p.*22*	ENST00000385247				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43499.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTTCTTG	NONE	.	.	.	.	.	ENSP00000342604	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODIFIER	1/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,intron_variant,,ENST00000368475,;FAM184A,intron_variant,,ENST00000352896,;FAM184A,intron_variant,,ENST00000338891,;FAM184A,intron_variant,,ENST00000522284,;FAM184A,intron_variant,,ENST00000521531,;MIR548B,non_coding_transcript_exon_variant,,ENST00000385247,;	.	186	291	SUCCESS
RNF146	81847	.	GRCh37	6	127607830	127607830	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	260	30	184	0	ENST00000368314.1:c.72C>T	p.Ser24=	p.S24=	ENST00000368314	NM_001242850.1	24	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS56449.1	72	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCCTGTTC	NONE	.	.	hmmpanther:PTHR13417	.	.	ENSP00000357297	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368314	Transcript	.	.	ENSG00000118518	21336	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RN146_HUMAN	RNF146	HGNC	.	.	UPI000007395E	SNV	RNF146,synonymous_variant,p.%3D,ENST00000610153,;RNF146,synonymous_variant,p.%3D,ENST00000368314,;RNF146,synonymous_variant,p.%3D,ENST00000608991,;RNF146,synonymous_variant,p.%3D,ENST00000309649,;RNF146,3_prime_UTR_variant,,ENST00000356799,;RNF146,3_prime_UTR_variant,,ENST00000477776,;RNF146,3_prime_UTR_variant,,ENST00000476956,;RNF146,3_prime_UTR_variant,,ENST00000480444,;ECHDC1,downstream_gene_variant,,ENST00000454859,;ECHDC1,downstream_gene_variant,,ENST00000528402,;ECHDC1,downstream_gene_variant,,ENST00000368289,;RNF146,downstream_gene_variant,,ENST00000609447,;ECHDC1,downstream_gene_variant,,ENST00000531967,;RNF146,downstream_gene_variant,,ENST00000609944,;ECHDC1,downstream_gene_variant,,ENST00000454591,;ECHDC1,downstream_gene_variant,,ENST00000368291,;ECHDC1,downstream_gene_variant,,ENST00000309620,;ECHDC1,downstream_gene_variant,,ENST00000460558,;ECHDC1,downstream_gene_variant,,ENST00000436638,;ECHDC1,downstream_gene_variant,,ENST00000430841,;RNF146,downstream_gene_variant,,ENST00000610162,;ECHDC1,downstream_gene_variant,,ENST00000474289,;RNF146,non_coding_transcript_exon_variant,,ENST00000489534,;RNF146,downstream_gene_variant,,ENST00000608340,;ECHDC1,downstream_gene_variant,,ENST00000488087,;ECHDC1,downstream_gene_variant,,ENST00000368292,;ECHDC1,downstream_gene_variant,,ENST00000368295,;ECHDC1,downstream_gene_variant,,ENST00000417628,;ECHDC1,downstream_gene_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000479525,;	496	184	291	SUCCESS
KIAA1244	0	.	GRCh37	6	138531046	138531046	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	295	34	227	1	ENST00000251691.4:c.220-1G>A		p.X74_splice	ENST00000251691	NM_020340.4	74		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5189.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGAAGCT	NONE	.	.	.	.	.	ENSP00000251691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	HIGH	3/33	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,splice_acceptor_variant,,ENST00000251691,;	.	228	329	SUCCESS
KIAA1244	0	.	GRCh37	6	138655566	138655566	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	10	75	0	ENST00000251691.4:c.5583C>T	p.Asp1861=	p.D1861=	ENST00000251691	NM_020340.4	1861	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS5189.2	5583	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACATCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	33/34	.	.	.	.	.	.	.	.	.	33/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,synonymous_variant,p.%3D,ENST00000251691,;	5749	75	100	SUCCESS
GRM1	2911	.	GRCh37	6	146755591	146755591	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	35	0	ENST00000282753.1:c.3244C>T	p.Leu1082=	p.L1082=	ENST00000282753	NM_001278067.1	1082	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5209.1	3244	MUTECT|MUSE|VARSCANS	.	TGCAGCTGAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000354896	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,synonymous_variant,p.%3D,ENST00000282753,;GRM1,synonymous_variant,p.%3D,ENST00000361719,;GRM1,3_prime_UTR_variant,,ENST00000392299,;GRM1,3_prime_UTR_variant,,ENST00000507907,;GRM1,3_prime_UTR_variant,,ENST00000355289,;GRM1,3_prime_UTR_variant,,ENST00000492807,;	3714	35	42	SUCCESS
SASH1	23328	.	GRCh37	6	148841002	148841002	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	15	0	ENST00000367467.3:c.1182G>A	p.Lys394=	p.K394=	ENST00000367467	NM_015278.3	394	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS5212.1	1182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGAAGGG	BUFFER|p.L397L|c.1191C>T|3	.	.	hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301	.	.	ENSP00000356437	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,synonymous_variant,p.%3D,ENST00000367467,;AL033378.1,downstream_gene_variant,,ENST00000411390,;	1657	15	20	SUCCESS
SYNE1	23345	.	GRCh37	6	152740828	152740828	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	12	120	0	ENST00000367255.5:c.5297A>G	p.Glu1766Gly	p.E1766G	ENST00000367255	NM_182961.3	1766	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5236.2	5297	MUTECT|MUSE|VARSCANS	.	GGTGTTCAGCA	NONE	.	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	40/146	.	.	.	.	.	.	.	.	COSM3662234,COSM3662233,COSM3662237,COSM3662235,COSM3662236	40/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1,1,1	.	.	benign(0.37)	.	.	1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Glu1773Gly,ENST00000448038,;SYNE1,missense_variant,p.Glu1766Gly,ENST00000367255,;SYNE1,missense_variant,p.Glu1773Gly,ENST00000423061,;SYNE1,missense_variant,p.Glu1803Gly,ENST00000341594,;SYNE1,missense_variant,p.Glu1766Gly,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	5899	120	144	SUCCESS
FOXC1	2296	.	GRCh37	6	1612242	1612242	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769646390	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	16	103	0	ENST00000380874.2:c.1562C>T	p.Ser521Phe	p.S521F	ENST00000380874	NM_001453.2	521	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4473.1	1562	RADIA|MUTECT|MUSE|VARSCANS	.	CAACTCTCCAG	NONE	byFrequency	.	hmmpanther:PTHR11829:SF69,hmmpanther:PTHR11829	.	.	ENSP00000370256	.	1/1	.	.	.	.	.	.	.	.	rs769646390	1/1	PASS	ENST00000380874	Transcript	.	.	ENSG00000054598	3800	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	FOXC1_HUMAN	FOXC1	HGNC	C6KMR8_HUMAN	.	UPI000012ADC5	SNV	FOXC1,missense_variant,p.Ser521Phe,ENST00000380874,;	1562	103	172	SUCCESS
MYLIP	29116	.	GRCh37	6	16145483	16145483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	299	9	234	0	ENST00000356840.3:c.1183A>G	p.Ile395Val	p.I395V	ENST00000356840	NM_013262.3	395	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4536.1	1183	MUTECT|MUSE	.	AGGAGATCAAC	NONE	.	.	Superfamily_domains:SSF57850,Gene3D:3.30.40.10,Pfam_domain:PF13920,PROSITE_profiles:PS50089,hmmpanther:PTHR23280	.	.	ENSP00000349298	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000356840	Transcript	.	.	ENSG00000007944	21155	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.026)	.	deleterious(0.03)	.	MYLIP_HUMAN	MYLIP	HGNC	Q5TIA5_HUMAN	.	UPI000006CDE0	SNV	MYLIP,missense_variant,p.Ile214Val,ENST00000349606,;MYLIP,missense_variant,p.Ile395Val,ENST00000356840,;U3,downstream_gene_variant,,ENST00000515984,;MIR4639,downstream_gene_variant,,ENST00000584938,;	1381	234	309	SUCCESS
C6orf118	168090	.	GRCh37	6	165715083	165715083	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757080711	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	13	97	0	ENST00000230301.8:c.728C>T	p.Ala243Val	p.A243V	ENST00000230301	NM_144980.3	243	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5288.1	728	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCGGCC	NONE	.	.	.	.	.	ENSP00000230301	.	2/9	.	.	.	.	.	.	.	.	rs757080711,COSM1246890	2/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.001)	.	tolerated(0.82)	0,1	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,missense_variant,p.Ala139Val,ENST00000543069,;C6orf118,missense_variant,p.Ala243Val,ENST00000230301,;	749	97	108	SUCCESS
GPR31	2853	.	GRCh37	6	167570796	167570796	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	6	67	0	ENST00000366834.1:c.524T>A	p.Ile175Asn	p.I175N	ENST00000366834	NM_005299.2	175	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS5299.1	524	MUTECT|MUSE|VARSCANS	.	AGATGATGCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF37,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000355799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366834	Transcript	.	.	ENSG00000120436	4486	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.35)	.	GPR31_HUMAN	GPR31	HGNC	.	.	UPI000007390A	SNV	GPR31,missense_variant,p.Ile175Asn,ENST00000366834,;TCP10L2,intron_variant,,ENST00000486697,;TCP10L2,intron_variant,,ENST00000539001,;	1022	67	81	SUCCESS
HIST1H2BK	0	.	GRCh37	6	27114596	27114596	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	69	151	0	ENST00000396891.4:c.-19C>T		p.*7*	ENST00000396891	NM_080593.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGAGCCTGA	NONE	.	.	.	.	.	ENSP00000380100	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000396891	Transcript	.	.	ENSG00000197903	13954	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B1K_HUMAN	HIST1H2BK	HGNC	.	.	UPI0000073CF8	SNV	HIST1H2BK,5_prime_UTR_variant,,ENST00000396891,;HIST1H2AH,upstream_gene_variant,,ENST00000377459,;HIST1H2BK,upstream_gene_variant,,ENST00000356950,;MIR3143,upstream_gene_variant,,ENST00000584253,;	24	151	188	SUCCESS
POM121L2	94026	.	GRCh37	6	27279209	27279209	+	synonymous_variant	Silent	SNP	G	G	A	rs375438522	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	70	0	ENST00000444565.1:c.741C>T	p.Gly247=	p.G247=	ENST00000444565	NM_033482.3	247	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS59497.1	741	MUTECT|MUSE	.	AGGGTGCCACC	NONE	.	.	Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	.	.	ENSP00000392726	.	1/1	.	.	.	.	.	.	.	.	rs375438522	1/1	PASS	ENST00000444565	Transcript	.	.	ENSG00000158553	13973	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,synonymous_variant,p.%3D,ENST00000444565,;POM121L2,synonymous_variant,p.%3D,ENST00000377451,;POM121L2,upstream_gene_variant,,ENST00000429945,;	741	70	90	SUCCESS
ZNF391	346157	.	GRCh37	6	27368100	27368100	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	20	0	ENST00000244576.4:c.-50T>A		p.*17*	ENST00000244576	NM_001076781.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43429.1	.	MUTECT|MUSE	.	AAGCATCAACA	NONE	.	.	.	.	.	ENSP00000244576	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000244576	Transcript	.	.	ENSG00000124613	18779	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN391_HUMAN	ZNF391	HGNC	C9JUF8_HUMAN	.	UPI00001D81D5	SNV	ZNF391,5_prime_UTR_variant,,ENST00000461521,;ZNF391,5_prime_UTR_variant,,ENST00000244576,;RP1-153G14.4,downstream_gene_variant,,ENST00000607727,;ZNF391,downstream_gene_variant,,ENST00000477999,;	496	20	44	SUCCESS
GPX6	257202	.	GRCh37	6	28473513	28473513	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	9	102	0	ENST00000361902.1:c.426A>T	p.Gly142=	p.G142=	ENST00000361902	NM_182701.1	142	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43432.1	426	MUTECT|MUSE	.	TTTTCTCCATT	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000303,Gene3D:3.40.30.10,Pfam_domain:PF00255,hmmpanther:PTHR11592:SF15,hmmpanther:PTHR11592,PROSITE_profiles:PS51355	.	.	ENSP00000354581	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000361902	Transcript	.	.	ENSG00000198704	4558	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPX6_HUMAN	GPX6	HGNC	A3KN74_HUMAN	.	UPI00001B2975	SNV	GPX6,synonymous_variant,p.%3D,ENST00000361902,;GPX6,intron_variant,,ENST00000474923,;GPX6,downstream_gene_variant,,ENST00000483058,;	476	102	140	SUCCESS
DPCR1	0	.	GRCh37	6	30918300	30918300	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	30	124	1	ENST00000462446.1:c.2059C>A	p.Pro687Thr	p.P687T	ENST00000462446		687	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4692.2	2059	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCCATTT	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Pro687Thr,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	2087	125	188	SUCCESS
C2	717	.	GRCh37	6	31911759	31911759	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	17	101	0	ENST00000299367.5:c.1799G>A	p.Cys600Tyr	p.C600Y	ENST00000299367	NM_000063.4	600	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	.	1340	RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGTAGGG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000410815	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Cys447Tyr,ENST00000456570,;CFB,missense_variant,p.Cys371Tyr,ENST00000477310,;C2,missense_variant,p.Cys354Tyr,ENST00000469372,;C2,missense_variant,p.Cys468Tyr,ENST00000442278,;CFB,missense_variant,p.Cys447Tyr,ENST00000556679,;C2,missense_variant,p.Cys600Tyr,ENST00000299367,;C2,missense_variant,p.Cys387Tyr,ENST00000497706,;C2,missense_variant,p.Cys374Tyr,ENST00000383177,;C2,missense_variant,p.Cys386Tyr,ENST00000452323,;CFB,upstream_gene_variant,,ENST00000483004,;CFB,upstream_gene_variant,,ENST00000425368,;CFB,upstream_gene_variant,,ENST00000475617,;C2,non_coding_transcript_exon_variant,,ENST00000468407,;CFB,upstream_gene_variant,,ENST00000497841,;C2,3_prime_UTR_variant,,ENST00000482060,;C2,non_coding_transcript_exon_variant,,ENST00000486124,;CFB,upstream_gene_variant,,ENST00000465750,;CFB,upstream_gene_variant,,ENST00000452035,;CFB,upstream_gene_variant,,ENST00000460718,;CFB,upstream_gene_variant,,ENST00000472581,;CFB,upstream_gene_variant,,ENST00000482886,;CFB,upstream_gene_variant,,ENST00000461483,;C2,downstream_gene_variant,,ENST00000485690,;	1395	101	122	SUCCESS
VPS52	6293	.	GRCh37	6	33236937	33236937	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	43	175	0	ENST00000445902.2:c.402G>C	p.Gln134His	p.Q134H	ENST00000445902	NM_022553.4	134	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS4770.2	402	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTCTGAAA	NONE	.	.	hmmpanther:PTHR14190,Pfam_domain:PF04129	.	.	ENSP00000409952	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	tolerated(0.15)	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,missense_variant,p.Gln9His,ENST00000436044,;VPS52,missense_variant,p.Gln134His,ENST00000445902,;VPS52,3_prime_UTR_variant,,ENST00000482399,;RPS18,upstream_gene_variant,,ENST00000474973,;RPS18,upstream_gene_variant,,ENST00000439602,;VPS52,non_coding_transcript_exon_variant,,ENST00000478934,;VPS52,non_coding_transcript_exon_variant,,ENST00000464425,;VPS52,non_coding_transcript_exon_variant,,ENST00000463486,;RPS18,upstream_gene_variant,,ENST00000476222,;VPS52,upstream_gene_variant,,ENST00000493674,;VPS52,upstream_gene_variant,,ENST00000471309,;RPS18,upstream_gene_variant,,ENST00000496813,;RPS18,upstream_gene_variant,,ENST00000490191,;RPS18,upstream_gene_variant,,ENST00000474626,;VPS52,upstream_gene_variant,,ENST00000495755,;VPS52,upstream_gene_variant,,ENST00000461743,;VPS52,upstream_gene_variant,,ENST00000493379,;	621	175	251	SUCCESS
KCTD20	222658	.	GRCh37	6	36449534	36449534	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs765194359	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	20	95	0	ENST00000373731.2:c.854A>G	p.Gln285Arg	p.Q285R	ENST00000373731	NM_173562.3	285	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4821.1	854	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAAAGTA	NONE	.	.	hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1	.	.	ENSP00000362836	.	6/8	.	.	.	.	.	.	.	.	rs765194359	6/8	PASS	ENST00000373731	Transcript	.	.	ENSG00000112078	21052	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.489)	.	deleterious(0.01)	.	KCD20_HUMAN	KCTD20	HGNC	F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN	.	UPI00001AADF6	SNV	KCTD20,missense_variant,p.Gln39Arg,ENST00000544295,;KCTD20,missense_variant,p.Gln119Arg,ENST00000449081,;KCTD20,missense_variant,p.Gln140Arg,ENST00000536244,;KCTD20,missense_variant,p.Gln285Arg,ENST00000373731,;KCTD20,splice_region_variant,,ENST00000474988,;KCTD20,splice_region_variant,,ENST00000265344,;KCTD20,splice_region_variant,,ENST00000481911,;	1245	95	156	SUCCESS
CPNE5	57699	.	GRCh37	6	36730726	36730726	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	39	114	0	ENST00000244751.2:c.823G>A	p.Ala275Thr	p.A275T	ENST00000244751	NM_020939.1	275	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4825.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGCCAGCT	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF8	.	.	ENSP00000244751	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000244751	Transcript	.	.	ENSG00000124772	2318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.21)	.	CPNE5_HUMAN	CPNE5	HGNC	Q7Z6C8_HUMAN,Q658T3_HUMAN	.	UPI0000127C15	SNV	CPNE5,missense_variant,p.Ala275Thr,ENST00000244751,;	1448	114	146	SUCCESS
MDGA1	266727	.	GRCh37	6	37606362	37606362	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	9	64	0	ENST00000434837.3:c.2618A>G	p.Asn873Ser	p.N873S	ENST00000434837	NM_153487.3	873	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS47417.1	2618	MUTECT|MUSE|VARSCANS	.	ACACATTGCCC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50060	.	.	ENSP00000402584	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.947)	.	tolerated(0.07)	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	SNV	MDGA1,missense_variant,p.Asn877Ser,ENST00000297153,;MDGA1,missense_variant,p.Asn873Ser,ENST00000505425,;MDGA1,missense_variant,p.Asn873Ser,ENST00000434837,;MDGA1,downstream_gene_variant,,ENST00000418178,;MDGA1,downstream_gene_variant,,ENST00000503419,;MDGA1,non_coding_transcript_exon_variant,,ENST00000373401,;MDGA1,downstream_gene_variant,,ENST00000502298,;	3797	64	99	SUCCESS
MDGA1	266727	.	GRCh37	6	37611590	37611590	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	22	150	1	ENST00000434837.3:c.2531A>G	p.His844Arg	p.H844R	ENST00000434837	NM_153487.3	844	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS47417.1	2531	RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTGTTTC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50060	.	.	ENSP00000402584	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	SNV	MDGA1,missense_variant,p.His154Arg,ENST00000418178,;MDGA1,missense_variant,p.His844Arg,ENST00000505425,;MDGA1,missense_variant,p.His848Arg,ENST00000297153,;MDGA1,missense_variant,p.His844Arg,ENST00000434837,;MDGA1,downstream_gene_variant,,ENST00000510077,;MDGA1,upstream_gene_variant,,ENST00000503419,;MDGA1,3_prime_UTR_variant,,ENST00000502298,;MDGA1,upstream_gene_variant,,ENST00000373401,;	3710	151	227	SUCCESS
TREML4	285852	.	GRCh37	6	41196565	41196565	+	synonymous_variant	Silent	SNP	T	T	C	rs775484880	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	15	72	0	ENST00000341495.2:c.177T>C	p.Ser59=	p.S59=	ENST00000341495	NM_198153.2	59	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS34446.1	177	RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTCCAAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR16423:SF1,hmmpanther:PTHR16423,PROSITE_profiles:PS50835	.	.	ENSP00000342570	.	2/6	.	.	.	.	.	.	.	.	rs775484880	2/6	PASS	ENST00000341495	Transcript	.	.	ENSG00000188056	30807	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRML4_HUMAN	TREML4	HGNC	.	.	UPI00001D696F	SNV	TREML4,synonymous_variant,p.%3D,ENST00000448827,;TREML4,synonymous_variant,p.%3D,ENST00000341495,;TREML4,upstream_gene_variant,,ENST00000461240,;	281	72	119	SUCCESS
RSPH9	221421	.	GRCh37	6	43623341	43623341	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	8	60	0	ENST00000372163.4:c.436C>G	p.Gln146Glu	p.Q146E	ENST00000372163	NM_152732.4	146	Cag/Gag	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55005.1	.	MUTECT|MUSE|VARSCANS	.	TTGACCAGATT	NONE	.	.	.	.	.	ENSP00000361238	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372165	Transcript	.	.	ENSG00000172426	21057	.	.	LOW	2/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RSPH9_HUMAN	RSPH9	HGNC	.	.	UPI0000073514	SNV	RSPH9,missense_variant,p.Gln146Glu,ENST00000372163,;RSPH9,splice_region_variant,,ENST00000372165,;	.	60	95	SUCCESS
SUPT3H	8464	.	GRCh37	6	44797582	44797582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	229	29	158	1	ENST00000371460.1:c.958A>T	p.Arg320Trp	p.R320W	ENST00000371460	NM_181356.2	320	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS34466.1	958	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCTGCGGT	NONE	.	.	hmmpanther:PTHR11380:SF3,hmmpanther:PTHR11380	.	.	ENSP00000360515	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000371460	Transcript	.	.	ENSG00000196284	11466	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	SUPT3_HUMAN	SUPT3H	HGNC	B4E1H0_HUMAN	.	UPI000018CE7C	SNV	SUPT3H,missense_variant,p.Arg320Trp,ENST00000371461,;SUPT3H,missense_variant,p.Gln98Leu,ENST00000371458,;SUPT3H,missense_variant,p.Arg309Trp,ENST00000371459,;SUPT3H,missense_variant,p.Arg309Trp,ENST00000306867,;SUPT3H,missense_variant,p.Arg320Trp,ENST00000371460,;SUPT3H,missense_variant,p.Arg309Trp,ENST00000475057,;	1276	159	258	SUCCESS
GPR116	0	.	GRCh37	6	46823751	46823751	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	411	62	330	0	ENST00000265417.7:c.3921T>C	p.Ser1307=	p.S1307=	ENST00000265417	NM_015234.4	1307	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4919.1	3921	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGAGAACT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,Prints_domain:PR01695	.	.	ENSP00000283296	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	SNV	GPR116,synonymous_variant,p.%3D,ENST00000545669,;GPR116,synonymous_variant,p.%3D,ENST00000265417,;GPR116,synonymous_variant,p.%3D,ENST00000456426,;GPR116,synonymous_variant,p.%3D,ENST00000283296,;GPR116,synonymous_variant,p.%3D,ENST00000362015,;GPR116,downstream_gene_variant,,ENST00000498632,;	4210	330	473	SUCCESS
PKHD1	5314	.	GRCh37	6	51609291	51609291	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	22	123	0	ENST00000371117.3:c.10048A>G	p.Arg3350Gly	p.R3350G	ENST00000371117	NM_138694.3	3350	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS4935.1	10048	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTGGAC	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	60/67	.	.	.	.	.	.	.	.	.	60/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	deleterious(0.05)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Arg3350Gly,ENST00000340994,;PKHD1,missense_variant,p.Arg3350Gly,ENST00000371117,;	10324	123	161	SUCCESS
PKHD1	5314	.	GRCh37	6	51917941	51917941	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	10	79	0	ENST00000371117.3:c.2073C>T	p.Leu691=	p.L691=	ENST00000371117	NM_138694.3	691	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4935.1	2073	MUTECT|MUSE|VARSCANS	.	AGAGGGAGAAG	NONE	.	.	.	.	.	ENSP00000360158	.	21/67	.	.	.	.	.	.	.	.	.	21/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,synonymous_variant,p.%3D,ENST00000340994,;PKHD1,synonymous_variant,p.%3D,ENST00000371117,;	2349	79	125	SUCCESS
PKHD1	5314	.	GRCh37	6	51949781	51949781	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	10	151	0	ENST00000371117.3:c.-50A>G		p.*17*	ENST00000371117	NM_138694.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4935.1	.	MUTECT|MUSE	.	AAGCATTTTCA	NONE	.	.	.	.	.	ENSP00000360158	.	2/67	.	.	.	.	.	.	.	.	.	2/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,5_prime_UTR_variant,,ENST00000340994,;PKHD1,5_prime_UTR_variant,,ENST00000371117,;	227	151	163	SUCCESS
MIR206	406989	.	GRCh37	6	52009213	52009213	+	mature_miRNA_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	19	132	0	ENST00000384872.1:n.67G>A		p.*23*	ENST00000384872				0	.	.	.	.	.	A	.	miRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGTGTGT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384872	Transcript	.	.	ENSG00000207604	31584	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MIR206	HGNC	.	.	.	SNV	MIR206,mature_miRNA_variant,,ENST00000384872,;MIR133BHG,downstream_gene_variant,,ENST00000418518,;MIR133B,upstream_gene_variant,,ENST00000362210,;	67	132	203	SUCCESS
LRRC1	55227	.	GRCh37	6	53764548	53764548	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200563845	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	15	94	0	ENST00000370888.1:c.646A>G	p.Ile216Val	p.I216V	ENST00000370888	NM_018214.4	216	Ata/Gta	0	.	G:0	.	G:0.0014	.	G	I/V	protein_coding	YES	CCDS4953.2	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAATAGGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF412,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058,Superfamily_domains:SSF52058	G:0	.	ENSP00000359925	G:0	8/14	.	.	.	.	.	.	.	.	rs200563845	8/14	PASS	ENST00000370888	Transcript	.	G:0.0002	ENSG00000137269	14307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	G:0	tolerated(0.07)	.	LRRC1_HUMAN	LRRC1	HGNC	.	.	UPI0000072801	SNV	LRRC1,missense_variant,p.Ile216Val,ENST00000370888,;LRRC1,3_prime_UTR_variant,,ENST00000487251,;	923	94	114	SUCCESS
LGSN	51557	.	GRCh37	6	63990576	63990576	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	93	0	ENST00000370657.4:c.880A>T	p.Arg294Trp	p.R294W	ENST00000370657		294	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4964.1	880	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTTGCCA	CODON|p.R294R|c.882G>A|3	.	.	Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.755)	.	deleterious(0)	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	SNV	LGSN,missense_variant,p.Arg294Trp,ENST00000370657,;LGSN,intron_variant,,ENST00000485906,;LGSN,intron_variant,,ENST00000370658,;	914	93	130	SUCCESS
RIMS1	22999	.	GRCh37	6	73017069	73017069	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140943787	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	49	0	ENST00000521978.1:c.3959C>T	p.Ser1320Phe	p.S1320F	ENST00000521978	NM_014989.5	1320	tCc/tTc	0	T:0.0003	T:0.003	.	T:0	.	T	S/F	protein_coding	YES	CCDS47449.1	3959	MUTECT|MUSE	.	ATATTCCAAGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	T:0	T:0	ENSP00000428417	T:0	27/34	.	.	.	.	.	.	.	.	rs140943787	27/34	PASS	ENST00000521978	Transcript	.	T:0.0008	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.775)	T:0	tolerated(0.07)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Ser1143Phe,ENST00000491071,;RIMS1,missense_variant,p.Ser485Phe,ENST00000453976,;RIMS1,missense_variant,p.Ser126Phe,ENST00000538414,;RIMS1,missense_variant,p.Ser238Phe,ENST00000522211,;RIMS1,missense_variant,p.Ser1112Phe,ENST00000517960,;RIMS1,missense_variant,p.Ser666Phe,ENST00000517433,;RIMS1,missense_variant,p.Ser1169Phe,ENST00000264839,;RIMS1,missense_variant,p.Ser640Phe,ENST00000401910,;RIMS1,missense_variant,p.Ser1112Phe,ENST00000348717,;RIMS1,missense_variant,p.Ser1320Phe,ENST00000521978,;RIMS1,missense_variant,p.Ser368Phe,ENST00000370420,;RIMS1,intron_variant,,ENST00000517827,;RIMS1,intron_variant,,ENST00000522291,;RIMS1,intron_variant,,ENST00000520567,;RIMS1,intron_variant,,ENST00000518273,;RIMS1,intron_variant,,ENST00000523963,;RIMS1,intron_variant,,ENST00000425662,;RIMS1,intron_variant,,ENST00000463023,;	3959	49	75	SUCCESS
COL12A1	1303	.	GRCh37	6	75884975	75884975	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	159	0	ENST00000322507.8:c.2489T>C	p.Met830Thr	p.M830T	ENST00000322507	NM_004370.5	830	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS43482.1	2489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCATAGTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	13/66	.	.	.	.	.	.	.	.	.	13/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.195)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Met830Thr,ENST00000416123,;COL12A1,missense_variant,p.Met830Thr,ENST00000322507,;COL12A1,missense_variant,p.Met830Thr,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,downstream_gene_variant,,ENST00000486533,;	2799	159	161	SUCCESS
COL12A1	1303	.	GRCh37	6	75912519	75912519	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs745772474	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	102	0	ENST00000322507.8:c.-11G>A		p.*4*	ENST00000322507	NM_004370.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCGAGCT	NONE	byCluster	.	.	.	.	ENSP00000325146	.	2/66	.	.	.	.	.	.	.	.	rs745772474	2/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,5_prime_UTR_variant,,ENST00000322507,;COL12A1,5_prime_UTR_variant,,ENST00000483888,;COL12A1,5_prime_UTR_variant,,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000416123,;	300	102	68	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90581017	90581017	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1319584033	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	23	147	0	ENST00000551025.1:n.7239C>T		p.*2413*	ENST00000551025				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACCGGGA	NONE	.	.	.	.	.	.	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000551025	Transcript	.	.	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000548224,;	7239	147	113	SUCCESS
UFL1	23376	.	GRCh37	6	96973201	96973201	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	37	163	0	ENST00000369278.4:c.281A>T	p.Glu94Val	p.E94V	ENST00000369278	NM_015323.4	94	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS5034.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGAAAATA	NONE	.	.	Pfam_domain:PF09743,hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0	.	.	ENSP00000358283	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000369278	Transcript	.	.	ENSG00000014123	23039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0)	.	UFL1_HUMAN	UFL1	HGNC	B7ZAY8_HUMAN	.	UPI0000072D61	SNV	UFL1,missense_variant,p.Glu94Val,ENST00000369278,;UFL1-AS1,upstream_gene_variant,,ENST00000430796,;UFL1,downstream_gene_variant,,ENST00000461673,;	347	163	157	SUCCESS
POU3F2	5454	.	GRCh37	6	99283906	99283906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	72	0	ENST00000328345.5:c.1157C>A	p.Ser386Tyr	p.S386Y	ENST00000328345	NM_005604.3	386	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS5040.1	1157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCCCTCG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF79,hmmpanther:PTHR11636,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,PIRSF_domain:PIRSF002629,Superfamily_domains:SSF46689	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,missense_variant,p.Ser386Tyr,ENST00000328345,;	1327	72	119	SUCCESS
POU3F2	5454	.	GRCh37	6	99283907	99283907	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	72	0	ENST00000328345.5:c.1158C>A	p.Ser386=	p.S386=	ENST00000328345	NM_005604.3	386	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5040.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCCTCGC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF79,hmmpanther:PTHR11636,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,PIRSF_domain:PIRSF002629,Superfamily_domains:SSF46689	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,synonymous_variant,p.%3D,ENST00000328345,;	1328	72	117	SUCCESS
FAXC	84553	.	GRCh37	6	99790885	99790885	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	17	74	1	ENST00000389677.5:c.291A>G	p.Lys97=	p.K97=	ENST00000389677	NM_032511.2	97	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS34500.1	291	MUTECT|VARSCANS	.	GCATCTTTAGA	NONE	.	.	hmmpanther:PTHR12289:SF27,hmmpanther:PTHR12289	.	.	ENSP00000374328	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000389677	Transcript	.	.	ENSG00000146267	20742	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FAXC_HUMAN	FAXC	HGNC	Q9BR58_HUMAN	.	UPI000006FEA4	SNV	FAXC,synonymous_variant,p.%3D,ENST00000389677,;FAXC,upstream_gene_variant,,ENST00000538471,;FAXC,non_coding_transcript_exon_variant,,ENST00000480148,;	574	75	114	SUCCESS
ZAN	7455	.	GRCh37	7	100334543	100334543	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	17	0	ENST00000546292.1:c.365A>G	p.His122Arg	p.H122R	ENST00000546292	NM_173059.1	122	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	.	365	MUTECT|MUSE	.	CCACCACATGT	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	4/46	.	.	.	.	.	.	.	.	.	4/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.206)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.His122Arg,ENST00000546292,;ZAN,missense_variant,p.His122Arg,ENST00000542585,;ZAN,missense_variant,p.His122Arg,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.His122Arg,ENST00000421100,;ZAN,missense_variant,p.His122Arg,ENST00000349350,;ZAN,missense_variant,p.His122Arg,ENST00000427578,;ZAN,missense_variant,p.His122Arg,ENST00000348028,;ZAN,missense_variant,p.His122Arg,ENST00000449052,;ZAN,missense_variant,p.His122Arg,ENST00000443370,;	513	17	17	SUCCESS
IFRD1	3475	.	GRCh37	7	112102235	112102235	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs778041377	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	61	0	ENST00000005558.4:c.797+1G>A		p.X266_splice	ENST00000005558	NM_001007245.2	266		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34736.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGATGTATGT	NONE	.	.	.	.	.	ENSP00000384477	.	.	.	.	.	.	.	.	.	.	rs778041377	.	PASS	ENST00000403825	Transcript	.	.	ENSG00000006652	5456	.	.	HIGH	7/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IFRD1_HUMAN	IFRD1	HGNC	A4D0U1_HUMAN,Q75MS4_HUMAN,Q75M99_HUMAN,Q75M98_HUMAN,E9PMY4_HUMAN,C9JNM6_HUMAN,C9JLG5_HUMAN,C9JFH1_HUMAN,C9J7U6_HUMAN,C9J311_HUMAN,B7Z4L0_HUMAN	.	UPI00000304DC	SNV	IFRD1,splice_donor_variant,,ENST00000535603,;IFRD1,splice_donor_variant,,ENST00000403825,;IFRD1,splice_donor_variant,,ENST00000005558,;IFRD1,splice_donor_variant,,ENST00000421296,;IFRD1,downstream_gene_variant,,ENST00000429071,;IFRD1,downstream_gene_variant,,ENST00000440625,;IFRD1,downstream_gene_variant,,ENST00000476927,;IFRD1,splice_donor_variant,,ENST00000466459,;IFRD1,downstream_gene_variant,,ENST00000486688,;	.	61	68	SUCCESS
C7orf60	0	.	GRCh37	7	112579749	112579749	+	synonymous_variant	Silent	SNP	C	C	T	rs1212289406	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	31	0	ENST00000297145.4:c.57G>A	p.Pro19=	p.P19=	ENST00000297145	NM_152556.2	19	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43634.1	57	MUTECT|MUSE	.	GTGTTCGGGGA	NONE	.	.	hmmpanther:PTHR21008	.	.	ENSP00000297145	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000297145	Transcript	.	.	ENSG00000164603	26475	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BMT2_HUMAN	C7orf60	HGNC	.	.	UPI000020F946	SNV	C7orf60,synonymous_variant,p.%3D,ENST00000297145,;C7orf60,upstream_gene_variant,,ENST00000432572,;C7orf60,upstream_gene_variant,,ENST00000485446,;	223	31	29	SUCCESS
CCDC136	64753	.	GRCh37	7	128445575	128445575	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	75	0	ENST00000297788.4:c.945C>A	p.Asn315Lys	p.N315K	ENST00000297788	NM_022742.4	315	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS47704.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACAAGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.29)	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,missense_variant,p.Asn315Lys,ENST00000297788,;CCDC136,missense_variant,p.Asn365Lys,ENST00000464832,;CCDC136,missense_variant,p.Asn315Lys,ENST00000487361,;CCDC136,missense_variant,p.Asn353Lys,ENST00000378685,;CCDC136,missense_variant,p.Asn192Lys,ENST00000494552,;CCDC136,downstream_gene_variant,,ENST00000485998,;CCDC136,upstream_gene_variant,,ENST00000464672,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,upstream_gene_variant,,ENST00000460941,;CCDC136,upstream_gene_variant,,ENST00000485832,;CCDC136,upstream_gene_variant,,ENST00000528772,;	1312	75	73	SUCCESS
NOS3	4846	.	GRCh37	7	150698351	150698351	+	synonymous_variant	Silent	SNP	C	C	T	rs534664057	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	16	84	0	ENST00000297494.3:c.1266C>T	p.Ala422=	p.A422=	ENST00000297494	NM_000603.4	422	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS5912.1	1266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCCGCCAC	NONE	by1000G	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.1230.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	T:0	.	ENSP00000297494	T:0	11/27	.	.	.	.	.	.	.	.	rs534664057	11/27	PASS	ENST00000297494	Transcript	.	T:0.0002	ENSG00000164867	7876	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,synonymous_variant,p.%3D,ENST00000467517,;NOS3,synonymous_variant,p.%3D,ENST00000484524,;NOS3,synonymous_variant,p.%3D,ENST00000461406,;NOS3,synonymous_variant,p.%3D,ENST00000297494,;NOS3,upstream_gene_variant,,ENST00000460603,;	1623	84	90	SUCCESS
SLC4A2	6522	.	GRCh37	7	150773389	150773389	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	18	91	0	ENST00000413384.2:c.3661G>A	p.Ala1221Thr	p.A1221T	ENST00000413384	NM_003040.3	1221	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5917.1	3661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGGCAGAG	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,TIGRFAM_domain:TIGR00834	.	.	ENSP00000419412	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000485713	Transcript	.	.	ENSG00000164889	11028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.577)	.	tolerated(0.07)	.	B3A2_HUMAN	SLC4A2	HGNC	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN	.	UPI000013EFE9	SNV	SLC4A2,missense_variant,p.Ala1221Thr,ENST00000413384,;SLC4A2,missense_variant,p.Ala1221Thr,ENST00000485713,;SLC4A2,missense_variant,p.Ala1212Thr,ENST00000392826,;SLC4A2,missense_variant,p.Ala1139Thr,ENST00000310317,;SLC4A2,missense_variant,p.Ala1207Thr,ENST00000461735,;TMUB1,downstream_gene_variant,,ENST00000392818,;FASTK,downstream_gene_variant,,ENST00000540185,;FASTK,downstream_gene_variant,,ENST00000297532,;TMUB1,downstream_gene_variant,,ENST00000297533,;FASTK,downstream_gene_variant,,ENST00000353841,;TMUB1,downstream_gene_variant,,ENST00000462940,;FASTK,downstream_gene_variant,,ENST00000482571,;RP11-148K1.12,non_coding_transcript_exon_variant,,ENST00000485974,;SLC4A2,downstream_gene_variant,,ENST00000482697,;FASTK,downstream_gene_variant,,ENST00000489884,;FASTK,downstream_gene_variant,,ENST00000496663,;FASTK,downstream_gene_variant,,ENST00000461979,;FASTK,downstream_gene_variant,,ENST00000478477,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000469467,;SLC4A2,downstream_gene_variant,,ENST00000472204,;SLC4A2,downstream_gene_variant,,ENST00000460010,;SLC4A2,downstream_gene_variant,,ENST00000480107,;FASTK,downstream_gene_variant,,ENST00000460980,;FASTK,downstream_gene_variant,,ENST00000466855,;FASTK,downstream_gene_variant,,ENST00000483953,;FASTK,downstream_gene_variant,,ENST00000482806,;FASTK,downstream_gene_variant,,ENST00000478883,;FASTK,downstream_gene_variant,,ENST00000469237,;FASTK,downstream_gene_variant,,ENST00000459800,;FASTK,downstream_gene_variant,,ENST00000465272,;SLC4A2,downstream_gene_variant,,ENST00000493040,;FASTK,downstream_gene_variant,,ENST00000467237,;	4701	91	103	SUCCESS
POLR2J4	84820	.	GRCh37	7	44054359	44054359	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	29	206	0	ENST00000326391.6:n.224A>T		p.*75*	ENST00000326391				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5475.1	.	RADIA|VARSCANS	.	GCACTTGCGGG	NONE	.	4638	.	.	.	ENSP00000258704	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258704	Transcript	.	.	ENSG00000136206	16408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPDE1_HUMAN	SPDYE1	HGNC	.	.	UPI000013CFF7	SNV	SPDYE1,downstream_gene_variant,,ENST00000258704,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000326391,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000427076,;POLR2J4,intron_variant,,ENST00000422304,;RP5-1165K10.2,intron_variant,,ENST00000454572,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000418424,;	.	206	252	SUCCESS
PKD1L1	168507	.	GRCh37	7	47933628	47933628	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	75	0	ENST00000289672.2:c.2300G>A	p.Ser767Asn	p.S767N	ENST00000289672	NM_138295.3	767	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS34633.1	2300	MUTECT|MUSE|VARSCANS	.	AGTTGCTGTAC	NONE	.	.	Pfam_domain:PF02010,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,PROSITE_profiles:PS51111	.	.	ENSP00000289672	.	15/57	.	.	.	.	.	.	.	.	COSM3929068	15/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Ser767Asn,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	2351	75	55	SUCCESS
SEMA3C	10512	.	GRCh37	7	80432091	80432091	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	69	0	ENST00000265361.3:c.806A>G	p.Asp269Gly	p.D269G	ENST00000265361	NM_006379.3	269	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5596.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGTCATTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265361	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,missense_variant,p.Asp269Gly,ENST00000265361,;SEMA3C,missense_variant,p.Asp287Gly,ENST00000544525,;SEMA3C,missense_variant,p.Asp121Gly,ENST00000536800,;SEMA3C,missense_variant,p.Asp269Gly,ENST00000419255,;SEMA3C,upstream_gene_variant,,ENST00000475955,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;	1368	69	62	SUCCESS
CLDN12	9069	.	GRCh37	7	90042146	90042146	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	31	207	1	ENST00000287916.4:c.156A>G	p.Thr52=	p.T52=	ENST00000287916	NM_001185073.2	52	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS5618.1	156	RADIA|MUTECT|MUSE|VARSCANS	.	TACACAGGCCT	NONE	.	.	hmmpanther:PTHR16703:SF3,hmmpanther:PTHR16703,Prints_domain:PR01872	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	SNV	CLDN12,synonymous_variant,p.%3D,ENST00000427904,;CLDN12,synonymous_variant,p.%3D,ENST00000287916,;CLDN12,synonymous_variant,p.%3D,ENST00000496677,;CLDN12,synonymous_variant,p.%3D,ENST00000394604,;CLDN12,synonymous_variant,p.%3D,ENST00000535571,;CLDN12,synonymous_variant,p.%3D,ENST00000416322,;CLDN12,synonymous_variant,p.%3D,ENST00000394605,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000498326,;CLDN12,downstream_gene_variant,,ENST00000462636,;	465	208	234	SUCCESS
AKAP9	10142	.	GRCh37	7	91708755	91708755	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	46	0	ENST00000356239.3:c.7308A>G	p.Glu2436=	p.E2436=	ENST00000356239	NM_147185.2	2436	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS5622.1	7308	MUTECT|MUSE	.	AGAGAACGTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF10,hmmpanther:PTHR18932	.	.	ENSP00000348573	.	31/50	.	.	.	.	.	.	.	.	.	31/50	PASS	ENST00000356239	Transcript	.	.	ENSG00000127914	379	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,synonymous_variant,p.%3D,ENST00000356239,;AKAP9,synonymous_variant,p.%3D,ENST00000359028,;AKAP9,synonymous_variant,p.%3D,ENST00000394534,;AKAP9,synonymous_variant,p.%3D,ENST00000358100,;AKAP9,upstream_gene_variant,,ENST00000435423,;	7541	46	54	SUCCESS
ERVW-1	30816	.	GRCh37	7	92098738	92098738	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	40	0	ENST00000493463.2:c.958A>G	p.Ile320Val	p.I320V	ENST00000493463	NM_014590.3	320	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5626.1	958	RADIA|MUTECT|MUSE	.	AAGAATGGGTA	NONE	.	.	hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF41,Pfam_domain:PF00429,Superfamily_domains:SSF58069	.	.	ENSP00000419945	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000493463	Transcript	.	.	ENSG00000242950	13525	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.268)	.	tolerated(0.56)	.	ENW1_HUMAN	ERVW-1	HGNC	Q9UQF1_HUMAN,Q96TB5_HUMAN,D0EYG5_HUMAN	.	UPI00000389BB	SNV	ERVW-1,missense_variant,p.Ile320Val,ENST00000603053,;ERVW-1,missense_variant,p.Ile320Val,ENST00000493463,;AC007566.10,intron_variant,,ENST00000427458,;ERVW-1,intron_variant,,ENST00000603704,;ERVW-1,intron_variant,,ENST00000604270,;	1882	40	58	SUCCESS
CCDC132	0	.	GRCh37	7	92905597	92905597	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1272584037	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	109	0	ENST00000305866.5:c.922C>A	p.Gln308Lys	p.Q308K	ENST00000305866	NM_017667.3	308	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS43617.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCAATAT	NONE	.	.	hmmpanther:PTHR13258,Pfam_domain:PF10475	.	.	ENSP00000307666	.	12/28	.	.	.	.	.	.	.	.	COSM2156001,COSM747504,COSM2156000,COSM747503	12/28	PASS	ENST00000305866	Transcript	.	.	ENSG00000004766	25956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	benign(0.312)	.	deleterious(0.01)	1,1,1,1	CC132_HUMAN	CCDC132	HGNC	A7MD03_HUMAN	.	UPI000015F998	SNV	CCDC132,missense_variant,p.Gln95Lys,ENST00000458707,;CCDC132,missense_variant,p.Gln39Lys,ENST00000317751,;CCDC132,missense_variant,p.Gln308Lys,ENST00000305866,;CCDC132,missense_variant,p.Gln278Lys,ENST00000544910,;CCDC132,missense_variant,p.Gln308Lys,ENST00000251739,;CCDC132,missense_variant,p.Gln119Lys,ENST00000541136,;CCDC132,intron_variant,,ENST00000535481,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;CCDC132,non_coding_transcript_exon_variant,,ENST00000484954,;CCDC132,non_coding_transcript_exon_variant,,ENST00000485140,;CCDC132,downstream_gene_variant,,ENST00000495039,;	1050	109	113	SUCCESS
DYNC1I1	1780	.	GRCh37	7	95614244	95614244	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	62	0	ENST00000324972.6:c.749A>G	p.Asp250Gly	p.D250G	ENST00000324972	NM_004411.4	250	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5644.1	749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGACATCT	NONE	.	.	hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442	.	.	ENSP00000320130	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000324972	Transcript	.	.	ENSG00000158560	2963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.01)	.	DC1I1_HUMAN	DYNC1I1	HGNC	Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN	.	UPI0000129A01	SNV	DYNC1I1,missense_variant,p.Asp213Gly,ENST00000359388,;DYNC1I1,missense_variant,p.Asp233Gly,ENST00000457059,;DYNC1I1,missense_variant,p.Asp230Gly,ENST00000437599,;DYNC1I1,missense_variant,p.Asp233Gly,ENST00000447467,;DYNC1I1,missense_variant,p.Asp213Gly,ENST00000537881,;DYNC1I1,missense_variant,p.Asp250Gly,ENST00000324972,;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000519371,;	942	62	63	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110401347	110401347	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	21	122	0	ENST00000378402.5:c.664del	p.Ser222LeufsTer20	p.S222Lfs*20	ENST00000378402	NM_177531.4	221	ggT/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS47911.1	663	INDELOCATOR*|VARSCANI*|PINDEL	.	TATGGGTTCTAT	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	8/78	.	.	.	.	.	.	.	.	.	8/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	deletion	PKHD1L1,frameshift_variant,p.Ser222LeufsTer20,ENST00000378402,;	767	122	152	SUCCESS
CYP11B2	1585	.	GRCh37	8	143994784	143994784	+	synonymous_variant	Silent	SNP	G	G	A	rs200388238	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	129	0	ENST00000323110.2:c.1038C>T	p.Ala346=	p.A346=	ENST00000323110	NM_000498.3	346	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6393.1	1038	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGGCCAG	NONE	byCluster	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	6/9	.	.	.	.	.	.	.	.	rs200388238	6/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,synonymous_variant,p.%3D,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	1041	129	84	SUCCESS
NRG1	3084	.	GRCh37	8	32600302	32600302	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	163	0	ENST00000405005.3:c.700+709G>T		p.*234*	ENST00000405005				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6083.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGGTGCTG	NONE	.	.	.	.	.	ENSP00000349275	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356819	Transcript	.	.	ENSG00000157168	7997	.	.	MODIFIER	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRG1_HUMAN	NRG1	HGNC	Q7RTW5_HUMAN,B7Z168_HUMAN	.	UPI000013DED7	SNV	NRG1,3_prime_UTR_variant,,ENST00000520407,;NRG1,3_prime_UTR_variant,,ENST00000523041,;NRG1,3_prime_UTR_variant,,ENST00000520502,;NRG1,3_prime_UTR_variant,,ENST00000518206,;NRG1,intron_variant,,ENST00000338921,;NRG1,intron_variant,,ENST00000519240,;NRG1,intron_variant,,ENST00000287842,;NRG1,intron_variant,,ENST00000523079,;NRG1,intron_variant,,ENST00000523534,;NRG1,intron_variant,,ENST00000405005,;NRG1,intron_variant,,ENST00000287845,;NRG1,intron_variant,,ENST00000522402,;NRG1,intron_variant,,ENST00000518084,;NRG1,intron_variant,,ENST00000519301,;NRG1,intron_variant,,ENST00000521670,;NRG1,intron_variant,,ENST00000539990,;NRG1,intron_variant,,ENST00000356819,;NRG1,intron_variant,,ENST00000341377,;NRG1,intron_variant,,ENST00000518104,;NRG1,intron_variant,,ENST00000522569,;	.	163	103	SUCCESS
OR13C3	138803	.	GRCh37	9	107298487	107298487	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761825669	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	85	0	ENST00000374781.2:c.608T>C	p.Ile203Thr	p.I203T	ENST00000374781	NM_001001961.1	203	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS35089.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATAATATTA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF34,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000363913	.	1/1	.	.	.	.	.	.	.	.	rs761825669	1/1	PASS	ENST00000374781	Transcript	.	.	ENSG00000204246	14704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.01)	.	O13C3_HUMAN	OR13C3	HGNC	.	.	UPI000015F232	SNV	OR13C3,missense_variant,p.Ile203Thr,ENST00000374781,;	651	85	92	SUCCESS
MUSK	4593	.	GRCh37	9	113509954	113509954	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	29	109	0	ENST00000374448.4:c.787G>A	p.Asp263Asn	p.D263N	ENST00000374448	NM_005592.3	263	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS48005.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGACCGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835	.	.	ENSP00000363571	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.758)	.	tolerated(0.33)	.	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,missense_variant,p.Asp263Asn,ENST00000374448,;MUSK,missense_variant,p.Asp263Asn,ENST00000189978,;MUSK,missense_variant,p.Asp263Asn,ENST00000416899,;	921	109	117	SUCCESS
PTGR1	22949	.	GRCh37	9	114348379	114348379	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	37	249	0	ENST00000309195.5:c.276A>T	p.Thr92=	p.T92=	ENST00000309195	NM_012212.3	92	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6779.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTTGTCCA	BUFFER|p.T93T|c.279G>A|3	.	.	hmmpanther:PTHR11695:SF5,hmmpanther:PTHR11695,Gene3D:3.90.180.10,TIGRFAM_domain:TIGR02825,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000385763	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000407693	Transcript	.	.	ENSG00000106853	18429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTGR1_HUMAN	PTGR1	HGNC	.	.	UPI000012E24A	SNV	PTGR1,synonymous_variant,p.%3D,ENST00000538962,;PTGR1,synonymous_variant,p.%3D,ENST00000422125,;PTGR1,synonymous_variant,p.%3D,ENST00000309195,;PTGR1,synonymous_variant,p.%3D,ENST00000407693,;PTGR1,5_prime_UTR_variant,,ENST00000238248,;PTGR1,3_prime_UTR_variant,,ENST00000374324,;	539	249	203	SUCCESS
COL27A1	85301	.	GRCh37	9	116973290	116973290	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	126	0	ENST00000356083.3:c.2351G>A	p.Gly784Asp	p.G784D	ENST00000356083	NM_032888.2	784	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS6802.1	2351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGCAAGA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362	.	.	ENSP00000348385	.	12/61	.	.	.	.	.	.	.	.	.	12/61	PASS	ENST00000356083	Transcript	.	.	ENSG00000196739	22986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CORA1_HUMAN	COL27A1	HGNC	.	.	UPI0000062271	SNV	COL27A1,missense_variant,p.Gly680Asp,ENST00000451716,;COL27A1,missense_variant,p.Gly784Asp,ENST00000356083,;MIR455,downstream_gene_variant,,ENST00000384993,;COL27A1,missense_variant,p.Gly416Asp,ENST00000494090,;	2742	126	85	SUCCESS
PSMB7	5695	.	GRCh37	9	127177705	127177705	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	74	0	ENST00000259457.3:c.-1G>C		p.*1*	ENST00000259457	NM_002799.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6855.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCTTCCC	NONE	.	.	.	.	.	ENSP00000259457	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000259457	Transcript	.	.	ENSG00000136930	9544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB7_HUMAN	PSMB7	HGNC	E9KL30_HUMAN	.	UPI00001325C7	SNV	PSMB7,5_prime_UTR_variant,,ENST00000441097,;PSMB7,5_prime_UTR_variant,,ENST00000259457,;PSMB7,5_prime_UTR_variant,,ENST00000536392,;PSMB7,upstream_gene_variant,,ENST00000466951,;PSMB7,upstream_gene_variant,,ENST00000498485,;	14	74	50	SUCCESS
NR6A1	2649	.	GRCh37	9	127284984	127284984	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	37	0	ENST00000487099.2:c.1443A>G	p.Ter481TrpextTer66	p.*481Wext*66	ENST00000487099	NM_001489.4	481	tgA/tgG	0	.	.	.	.	.	C	*/W	protein_coding	YES	CCDS35137.1	1443	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTCATTC	NONE	.	.	.	.	.	ENSP00000420267	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000487099	Transcript	.	.	ENSG00000148200	7985	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NR6A1_HUMAN	NR6A1	HGNC	F1D8S0_HUMAN	.	UPI0000130484	SNV	NR6A1,stop_lost,p.Ter476TrpextTer66,ENST00000416460,;NR6A1,stop_lost,p.Ter480TrpextTer66,ENST00000344523,;NR6A1,stop_lost,p.Ter477TrpextTer66,ENST00000373584,;NR6A1,stop_lost,p.Ter481TrpextTer66,ENST00000487099,;	1601	37	31	SUCCESS
USP20	10868	.	GRCh37	9	132632035	132632035	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	7	241	0	ENST00000315480.4:c.1477T>C	p.Tyr493His	p.Y493H	ENST00000315480		493	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS43892.1	1477	MUTECT|MUSE	.	CCATCTACCAG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443	.	.	ENSP00000313811	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(1)	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,missense_variant,p.Tyr493His,ENST00000372429,;USP20,missense_variant,p.Tyr493His,ENST00000358355,;USP20,missense_variant,p.Tyr493His,ENST00000315480,;USP20,non_coding_transcript_exon_variant,,ENST00000491731,;USP20,intron_variant,,ENST00000474895,;	1635	241	161	SUCCESS
NUP214	8021	.	GRCh37	9	134038560	134038560	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	96	0	ENST00000359428.5:c.2723G>A	p.Ser908Asn	p.S908N	ENST00000359428	NM_005085.3	908	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS6940.1	2723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGGTGTG	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	19/36	.	.	.	.	.	.	.	.	.	19/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.598)	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Ser909Asn,ENST00000451030,;NUP214,missense_variant,p.Ser908Asn,ENST00000359428,;NUP214,missense_variant,p.Ser898Asn,ENST00000411637,;RP11-544A12.4,non_coding_transcript_exon_variant,,ENST00000586662,;RP11-544A12.4,intron_variant,,ENST00000586290,;RP11-544A12.4,intron_variant,,ENST00000590461,;RP11-544A12.4,intron_variant,,ENST00000587264,;RP11-544A12.4,intron_variant,,ENST00000417798,;RP11-544A12.4,intron_variant,,ENST00000588378,;RP11-544A12.4,intron_variant,,ENST00000415391,;RP11-544A12.4,intron_variant,,ENST00000589667,;RP11-544A12.4,intron_variant,,ENST00000587408,;RP11-544A12.4,intron_variant,,ENST00000589540,;RP11-544A12.4,intron_variant,,ENST00000589128,;RP11-544A12.4,downstream_gene_variant,,ENST00000588325,;RP11-544A12.4,downstream_gene_variant,,ENST00000592466,;RP11-544A12.4,downstream_gene_variant,,ENST00000589095,;NUP214,splice_region_variant,,ENST00000525980,;NUP214,splice_region_variant,,ENST00000489260,;	2867	96	92	SUCCESS
SEC16A	9919	.	GRCh37	9	139361447	139361447	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	43	0	ENST00000313050.7:c.3891T>C	p.Tyr1297=	p.Y1297=	ENST00000313050	NM_014866.1	1297	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS55351.1	3891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCATACTC	NONE	.	.	hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7	.	.	ENSP00000325827	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000313050	Transcript	.	.	ENSG00000148396	29006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SEC16A	HGNC	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN	.	UPI0000F0888B	SNV	SEC16A,synonymous_variant,p.%3D,ENST00000290037,;SEC16A,synonymous_variant,p.%3D,ENST00000453963,;SEC16A,synonymous_variant,p.%3D,ENST00000313050,;SEC16A,synonymous_variant,p.%3D,ENST00000431893,;SEC16A,synonymous_variant,p.%3D,ENST00000371706,;SEC16A,upstream_gene_variant,,ENST00000277537,;SEC16A,upstream_gene_variant,,ENST00000472305,;	3965	43	56	SUCCESS
CACNA1B	774	.	GRCh37	9	140880973	140880973	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	59	147	0	ENST00000371372.1:c.1881del	p.Met628CysfsTer33	p.M628Cfs*33	ENST00000371372	NM_001243812.1	626	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS59522.1	1878	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGCTGGGGAT	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000360423	.	14/47	.	.	.	.	.	.	.	.	.	14/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	deletion	CACNA1B,frameshift_variant,p.Met629CysfsTer33,ENST00000371355,;CACNA1B,frameshift_variant,p.Met629CysfsTer33,ENST00000371357,;CACNA1B,frameshift_variant,p.Met628CysfsTer33,ENST00000277551,;CACNA1B,frameshift_variant,p.Met628CysfsTer33,ENST00000371363,;CACNA1B,frameshift_variant,p.Met628CysfsTer33,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	2023	147	220	SUCCESS
FREM1	158326	.	GRCh37	9	14824891	14824891	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	102	0	ENST00000380880.3:c.1981A>T	p.Ile661Leu	p.I661L	ENST00000380880		661	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS47952.1	1981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTATATAGG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24	.	.	ENSP00000412940	.	12/38	.	.	.	.	.	.	.	.	.	12/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.39)	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,missense_variant,p.Ile662Leu,ENST00000380881,;FREM1,missense_variant,p.Ile661Leu,ENST00000380880,;FREM1,missense_variant,p.Ile661Leu,ENST00000422223,;FREM1,missense_variant,p.Ile661Leu,ENST00000380875,;	2797	102	72	SUCCESS
TEK	7010	.	GRCh37	9	27173269	27173269	+	synonymous_variant	Silent	SNP	A	A	G	rs1055114133	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	39	230	0	ENST00000380036.4:c.810A>G	p.Gly270=	p.G270=	ENST00000380036	NM_000459.3	270	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS6519.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGACAAGA	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000369375	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,synonymous_variant,p.%3D,ENST00000406359,;TEK,synonymous_variant,p.%3D,ENST00000519097,;TEK,synonymous_variant,p.%3D,ENST00000519080,;TEK,synonymous_variant,p.%3D,ENST00000380036,;	1252	230	214	SUCCESS
UHRF2	115426	.	GRCh37	9	6413527	6413527	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	72	1	ENST00000276893.5:c.37A>G	p.Thr13Ala	p.T13A	ENST00000276893	NM_152896.2	13	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS6469.1	37	MUTECT|SOMATICSNIPER|VARSCANS	.	CCAAGACGTGC	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR14140,hmmpanther:PTHR14140:SF3,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000276893	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000276893	Transcript	.	.	ENSG00000147854	12557	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.987)	.	tolerated(0.2)	.	UHRF2_HUMAN	UHRF2	HGNC	.	.	UPI000006E524	SNV	UHRF2,missense_variant,p.Thr13Ala,ENST00000381373,;UHRF2,missense_variant,p.Thr13Ala,ENST00000276893,;RP11-307L3.4,downstream_gene_variant,,ENST00000411561,;UHRF2,non_coding_transcript_exon_variant,,ENST00000469298,;UHRF2,upstream_gene_variant,,ENST00000461236,;UHRF2,upstream_gene_variant,,ENST00000481049,;UHRF2,missense_variant,p.Thr13Ala,ENST00000468435,;	205	73	71	SUCCESS
FXN	2395	.	GRCh37	9	71668103	71668103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	74	0	ENST00000377270.3:c.311A>G	p.Asp104Gly	p.D104G	ENST00000377270	NM_000144.4	104	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6626.1	311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGACTCTT	NONE	.	.	Prints_domain:PR00904,Superfamily_domains:SSF55387,TIGRFAM_domain:TIGR03421,TIGRFAM_domain:TIGR03422,Pfam_domain:PF01491,Gene3D:3.30.920.10,hmmpanther:PTHR16821:SF0,hmmpanther:PTHR16821,PROSITE_profiles:PS50810	.	.	ENSP00000366482	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000377270	Transcript	.	.	ENSG00000165060	3951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0.03)	.	FRDA_HUMAN	FXN	HGNC	C9JAX1_HUMAN	.	UPI0000062306	SNV	FXN,missense_variant,p.Asp104Gly,ENST00000377270,;FXN,missense_variant,p.Asp104Gly,ENST00000396364,;FXN,missense_variant,p.Asp104Gly,ENST00000396366,;FXN,missense_variant,p.Asp29Gly,ENST00000498653,;FXN,intron_variant,,ENST00000484259,;	835	75	61	SUCCESS
SMC5	23137	.	GRCh37	9	72895730	72895730	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770635107	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	28	0	ENST00000361138.5:c.734G>T	p.Arg245Ile	p.R245I	ENST00000361138	NM_015110.3	245	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS6632.1	734	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGATATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306,Pfam_domain:PF02463,Superfamily_domains:SSF52540	.	.	ENSP00000354957	.	6/25	.	.	.	.	.	.	.	.	rs770635107	6/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,missense_variant,p.Arg245Ile,ENST00000361138,;	792	28	31	SUCCESS
SPATA31C1	441452	.	GRCh37	9	90535712	90535712	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	53	227	0	ENST00000420021.2:n.1187A>T		p.*396*	ENST00000420021				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGAGACTA	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000420021	Transcript	.	.	ENSG00000230246	27846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31C1	HGNC	.	.	.	SNV	SPATA31C1,non_coding_transcript_exon_variant,,ENST00000602681,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000437823,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000420021,;	1187	227	243	SUCCESS
NUTM2F	54754	.	GRCh37	9	97082514	97082514	+	synonymous_variant	Silent	SNP	A	A	G	rs779690174	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	21	128	0	ENST00000253262.4:c.1344T>C	p.Cys448=	p.C448=	ENST00000253262	NM_017561.1	448	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS47994.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGAACACAG	NONE	.	.	hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12,Pfam_domain:PF12882	.	.	ENSP00000253262	.	5/7	.	.	.	.	.	.	.	.	rs779690174	5/7	PASS	ENST00000253262	Transcript	.	.	ENSG00000130950	23450	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTM2F_HUMAN	NUTM2F	HGNC	.	.	UPI00001D771D	SNV	NUTM2F,synonymous_variant,p.%3D,ENST00000335456,;NUTM2F,synonymous_variant,p.%3D,ENST00000341207,;NUTM2F,synonymous_variant,p.%3D,ENST00000253262,;	1365	128	96	SUCCESS
DMRT3	58524	.	GRCh37	9	990928	990928	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	17	148	0	ENST00000190165.2:c.1342C>T	p.Gln448Ter	p.Q448*	ENST00000190165	NM_021240.3	448	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6443.1	1342	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCAGTCC	NONE	.	.	hmmpanther:PTHR12322:SF62,hmmpanther:PTHR12322	.	.	ENSP00000190165	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000190165	Transcript	.	.	ENSG00000064218	13909	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DMRT3_HUMAN	DMRT3	HGNC	Q9NRR0_HUMAN	.	UPI0000073634	SNV	DMRT3,stop_gained,p.Gln448Ter,ENST00000190165,;DMRT3,downstream_gene_variant,,ENST00000417254,;	1380	148	125	SUCCESS
ARL13A	392509	.	GRCh37	X	100240896	100240896	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	56	0	ENST00000450457.2:c.371C>A	p.Pro124His	p.P124H	ENST00000450457		124	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS55463.1	371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCCATCT	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF111,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000398637	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000450049	Transcript	.	.	ENSG00000174225	31709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AR13A_HUMAN	ARL13A	HGNC	.	.	UPI0001747A4A	SNV	ARL13A,missense_variant,p.Pro124His,ENST00000450049,;ARL13A,upstream_gene_variant,,ENST00000372953,;ARL13A,missense_variant,p.Pro124His,ENST00000450457,;ARL13A,upstream_gene_variant,,ENST00000494863,;	484	56	45	SUCCESS
ARMCX1	51309	.	GRCh37	X	100807847	100807848	+	5_prime_UTR_variant	5'UTR	DEL	GC	GC	-	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	25	0	ENST00000372829.3:c.-63_-62del		p.*21*	ENST00000372829	NM_016608.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14487.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGTGTGCGCGCT	NONE	.	.	.	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	deletion	ARMCX1,5_prime_UTR_variant,,ENST00000372829,;	305-306	25	33	SUCCESS
NRK	203447	.	GRCh37	X	105179196	105179196	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	92	0	ENST00000243300.9:c.3534A>G	p.Ser1178=	p.S1178=	ENST00000243300	NM_198465.2	1178	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	.	3537	RADIA|MUTECT|MUSE|VARSCANS	.	GAATCACCTAA	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF216	.	.	ENSP00000438378	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,synonymous_variant,p.%3D,ENST00000428173,;NRK,synonymous_variant,p.%3D,ENST00000243300,;	3840	92	87	SUCCESS
MORC4	79710	.	GRCh37	X	106185319	106185319	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	23	165	0	ENST00000355610.4:c.2509G>T	p.Ala837Ser	p.A837S	ENST00000355610	NM_001085354.2	837	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14525.2	2509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCTTGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1	.	.	ENSP00000347821	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000355610	Transcript	.	.	ENSG00000133131	23485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.05)	.	MORC4_HUMAN	MORC4	HGNC	.	.	UPI00003E75D3	SNV	MORC4,missense_variant,p.Ala585Ser,ENST00000535534,;MORC4,missense_variant,p.Ala837Ser,ENST00000255495,;MORC4,missense_variant,p.Ala837Ser,ENST00000355610,;MORC4,intron_variant,,ENST00000604604,;MORC4,non_coding_transcript_exon_variant,,ENST00000478924,;	2784	165	107	SUCCESS
RP1-241P17.4	0	.	GRCh37	X	114953634	114953634	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	25	209	0	ENST00000449327.1:c.-85C>T		p.*29*	ENST00000449327				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCTGCA	NONE	.	.	.	.	.	ENSP00000391266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000449327	Transcript	.	.	ENSG00000228532	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP1-241P17.4	Clone_based_vega_gene	H7BZT4_HUMAN	.	UPI000013FC70	SNV	RP1-241P17.4,5_prime_UTR_variant,,ENST00000449327,;RP1-241P17.1,upstream_gene_variant,,ENST00000415394,;RP1-241P17.1,upstream_gene_variant,,ENST00000451869,;AC005000.1,non_coding_transcript_exon_variant,,ENST00000536192,;	36	209	165	SUCCESS
DOCK11	139818	.	GRCh37	X	117752606	117752606	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs112023398	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	53	296	0	ENST00000276202.7:c.3386A>G	p.Asp1129Gly	p.D1129G	ENST00000276202	NM_144658.3	1129	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS35373.1	3386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGACAATT	NONE	.	.	hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317	.	.	ENSP00000276202	.	31/53	.	.	.	.	.	.	.	.	rs112023398	31/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.03)	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,missense_variant,p.Asp1129Gly,ENST00000276204,;DOCK11,missense_variant,p.Asp1129Gly,ENST00000276202,;	3449	296	234	SUCCESS
ZNF280C	55609	.	GRCh37	X	129349772	129349772	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	76	0	ENST00000370978.4:c.1831A>T	p.Asn611Tyr	p.N611Y	ENST00000370978	NM_017666.4	611	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS14622.1	1831	RADIA|MUTECT|MUSE|VARSCANS	.	TATGTTCTTCA	NONE	.	.	hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	.	.	ENSP00000360017	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000370978	Transcript	.	.	ENSG00000056277	25955	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.827)	.	deleterious(0)	.	Z280C_HUMAN	ZNF280C	HGNC	.	.	UPI0000071981	SNV	ZNF280C,missense_variant,p.Asn611Tyr,ENST00000370978,;ZNF280C,missense_variant,p.Asn562Tyr,ENST00000447817,;	1985	76	73	SUCCESS
FRMD7	90167	.	GRCh37	X	131212020	131212020	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	45	401	0	ENST00000298542.4:c.2025C>T	p.Ala675=	p.A675=	ENST00000298542	NM_194277.2	675	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS35397.1	2025	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGGCCAT	NONE	.	.	.	.	.	ENSP00000298542	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000298542	Transcript	.	.	ENSG00000165694	8079	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRMD7_HUMAN	FRMD7	HGNC	.	.	UPI00001C0AED	SNV	FRMD7,synonymous_variant,p.%3D,ENST00000464296,;FRMD7,synonymous_variant,p.%3D,ENST00000370879,;FRMD7,synonymous_variant,p.%3D,ENST00000298542,;MST4,downstream_gene_variant,,ENST00000394334,;MST4,downstream_gene_variant,,ENST00000496850,;MST4,downstream_gene_variant,,ENST00000481105,;MST4,downstream_gene_variant,,ENST00000394335,;MST4,downstream_gene_variant,,ENST00000354719,;	2201	401	320	SUCCESS
RBMX	27316	.	GRCh37	X	135957309	135957309	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	22	175	0	ENST00000320676.7:c.801T>C	p.Gly267=	p.G267=	ENST00000320676	NM_002139.3	267	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS14661.1	801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGACCATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF294	.	.	ENSP00000359645	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000320676	Transcript	.	.	ENSG00000147274	9910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBMX_HUMAN	RBMX	HGNC	H3BUY5_HUMAN,B4E352_HUMAN,B3KRG5_HUMAN	.	UPI0000134535	SNV	RBMX,missense_variant,p.Val159Ala,ENST00000431446,;RBMX,synonymous_variant,p.%3D,ENST00000570135,;RBMX,synonymous_variant,p.%3D,ENST00000419968,;RBMX,synonymous_variant,p.%3D,ENST00000562646,;RBMX,synonymous_variant,p.%3D,ENST00000320676,;RBMX,synonymous_variant,p.%3D,ENST00000565438,;SNORD61,downstream_gene_variant,,ENST00000384252,;RBMX,upstream_gene_variant,,ENST00000496459,;RBMX,upstream_gene_variant,,ENST00000561733,;RBMX,downstream_gene_variant,,ENST00000567262,;RBMX,3_prime_UTR_variant,,ENST00000464781,;RBMX,3_prime_UTR_variant,,ENST00000568578,;RBMX,downstream_gene_variant,,ENST00000565907,;RBMX,downstream_gene_variant,,ENST00000563370,;	956	175	131	SUCCESS
OFD1	8481	.	GRCh37	X	13771456	13771456	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	33	217	0	ENST00000340096.6:c.1056-31G>A		p.*352*	ENST00000340096	NM_003611.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14157.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGGAGCT	NONE	.	.	.	.	.	ENSP00000344314	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340096	Transcript	.	.	ENSG00000046651	2567	.	.	MODIFIER	10/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OFD1_HUMAN	OFD1	HGNC	E9KL37_HUMAN,A8K2T9_HUMAN,A6NF31_HUMAN	.	UPI0000130C40	SNV	OFD1,intron_variant,,ENST00000380567,;OFD1,intron_variant,,ENST00000340096,;OFD1,intron_variant,,ENST00000380550,;OFD1,downstream_gene_variant,,ENST00000398395,;OFD1,non_coding_transcript_exon_variant,,ENST00000490265,;	.	217	205	SUCCESS
GPM6B	2824	.	GRCh37	X	13801604	13801604	+	synonymous_variant	Silent	SNP	C	C	T	rs759835302	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	26	197	0	ENST00000356942.5:c.285G>A	p.Ala95=	p.A95=	ENST00000356942	NM_005278.3	95	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS35206.1	405	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGACGCAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF10,Pfam_domain:PF01275,Prints_domain:PR00214	.	.	ENSP00000316861	.	4/8	.	.	.	.	.	.	.	.	rs759835302	4/8	PASS	ENST00000316715	Transcript	.	.	ENSG00000046653	4461	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPM6B_HUMAN	GPM6B	HGNC	C9JZE8_HUMAN,C9J8H8_HUMAN,B7Z613_HUMAN	.	UPI00000721CA	SNV	GPM6B,synonymous_variant,p.%3D,ENST00000468080,;GPM6B,synonymous_variant,p.%3D,ENST00000454189,;GPM6B,synonymous_variant,p.%3D,ENST00000355135,;GPM6B,synonymous_variant,p.%3D,ENST00000316715,;GPM6B,synonymous_variant,p.%3D,ENST00000493677,;GPM6B,synonymous_variant,p.%3D,ENST00000493085,;GPM6B,synonymous_variant,p.%3D,ENST00000356942,;GPM6B,synonymous_variant,p.%3D,ENST00000398361,;GPM6B,synonymous_variant,p.%3D,ENST00000495211,;GPM6B,synonymous_variant,p.%3D,ENST00000475307,;GPM6B,upstream_gene_variant,,ENST00000472735,;	843	197	189	SUCCESS
MOSPD2	158747	.	GRCh37	X	14910893	14910893	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	20	163	0	ENST00000380492.3:c.128A>G	p.Asp43Gly	p.D43G	ENST00000380492	NM_152581.3	43	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS14162.1	128	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGATGATA	NONE	.	.	hmmpanther:PTHR19993,hmmpanther:PTHR19993:SF1,Gene3D:3.40.525.10,Superfamily_domains:SSF46938	.	.	ENSP00000369860	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000380492	Transcript	.	.	ENSG00000130150	28381	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	MSPD2_HUMAN	MOSPD2	HGNC	.	.	UPI00000735BA	SNV	MOSPD2,missense_variant,p.Asp43Gly,ENST00000482354,;MOSPD2,missense_variant,p.Asp43Gly,ENST00000380492,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000495110,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000461777,;	216	163	158	SUCCESS
IRAK1	3654	.	GRCh37	X	153284220	153284220	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	27	184	0	ENST00000369980.3:c.559G>A	p.Val187Met	p.V187M	ENST00000369980	NM_001569.3	187	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14740.1	559	RADIA|MUTECT|MUSE|VARSCANS	.	GGACACTGAGC	NONE	.	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF1	.	.	ENSP00000358997	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000369980	Transcript	.	.	ENSG00000184216	6112	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.11)	.	IRAK1_HUMAN	IRAK1	HGNC	.	.	UPI000012D873	SNV	IRAK1,missense_variant,p.Val187Met,ENST00000369980,;IRAK1,missense_variant,p.Val213Met,ENST00000429936,;IRAK1,missense_variant,p.Val187Met,ENST00000369974,;IRAK1,missense_variant,p.Val187Met,ENST00000393687,;IRAK1,missense_variant,p.Val213Met,ENST00000393682,;IRAK1,intron_variant,,ENST00000444230,;IRAK1,upstream_gene_variant,,ENST00000443220,;MECP2,downstream_gene_variant,,ENST00000303391,;IRAK1,upstream_gene_variant,,ENST00000455690,;IRAK1,upstream_gene_variant,,ENST00000444254,;IRAK1,upstream_gene_variant,,ENST00000437278,;MIR718,downstream_gene_variant,,ENST00000390190,;IRAK1,upstream_gene_variant,,ENST00000477274,;IRAK1,upstream_gene_variant,,ENST00000467236,;IRAK1,missense_variant,p.Val213Met,ENST00000369973,;IRAK1,non_coding_transcript_exon_variant,,ENST00000463031,;	727	184	181	SUCCESS
FLNA	2316	.	GRCh37	X	153580981	153580981	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782022901	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	26	201	0	ENST00000369850.3:c.6442C>A	p.Arg2148Ser	p.R2148S	ENST00000369850	NM_001110556.1	2148	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS48194.1	6442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACGCCTGC	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915	.	.	ENSP00000358866	.	40/48	.	.	.	.	.	.	.	.	rs782022901	40/48	PASS	ENST00000369850	Transcript	.	.	ENSG00000196924	3754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.195)	.	tolerated(0.08)	.	FLNA_HUMAN	FLNA	HGNC	Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN	.	UPI000013C596	SNV	FLNA,missense_variant,p.Arg2140Ser,ENST00000422373,;FLNA,missense_variant,p.Arg2140Ser,ENST00000360319,;FLNA,missense_variant,p.Arg281Ser,ENST00000369856,;FLNA,missense_variant,p.Arg2108Ser,ENST00000344736,;FLNA,missense_variant,p.Arg2148Ser,ENST00000369850,;FLNA,intron_variant,,ENST00000444578,;FLNA,downstream_gene_variant,,ENST00000438732,;FLNA,intron_variant,,ENST00000498411,;FLNA,upstream_gene_variant,,ENST00000498491,;FLNA,downstream_gene_variant,,ENST00000466319,;FLNA,3_prime_UTR_variant,,ENST00000415241,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,non_coding_transcript_exon_variant,,ENST00000466325,;FLNA,non_coding_transcript_exon_variant,,ENST00000490936,;FLNA,non_coding_transcript_exon_variant,,ENST00000474358,;FLNA,downstream_gene_variant,,ENST00000474072,;FLNA,upstream_gene_variant,,ENST00000462590,;	6679	201	145	SUCCESS
RAI2	10742	.	GRCh37	X	17818831	17818831	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	55	0	ENST00000331511.1:c.1300T>C	p.Ser434Pro	p.S434P	ENST00000331511		434	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS14183.1	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGACTCGC	NONE	.	.	hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF3	.	.	ENSP00000444210	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000545871	Transcript	.	.	ENSG00000131831	9835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	RAI2_HUMAN	RAI2	HGNC	.	.	UPI000013CE19	SNV	RAI2,missense_variant,p.Ser434Pro,ENST00000331511,;RAI2,missense_variant,p.Ser434Pro,ENST00000360011,;RAI2,missense_variant,p.Ser434Pro,ENST00000451717,;RAI2,missense_variant,p.Ser384Pro,ENST00000415486,;RAI2,missense_variant,p.Ser434Pro,ENST00000545871,;RAI2,downstream_gene_variant,,ENST00000509491,;	1761	55	54	SUCCESS
PDHA1	5160	.	GRCh37	X	19371270	19371270	+	synonymous_variant	Silent	SNP	C	C	T	rs1555933962	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	47	287	1	ENST00000422285.2:c.489C>T	p.Gly163=	p.G163=	ENST00000422285		163	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS55380.1	603	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCAATGG	NONE	.	.	Superfamily_domains:SSF52518,Gene3D:3.40.50.970,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,hmmpanther:PTHR11516:SF28,hmmpanther:PTHR11516	.	.	ENSP00000369134	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000379806	Transcript	.	.	ENSG00000131828	8806	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ODPA_HUMAN	PDHA1	HGNC	Q9UNV7_HUMAN,Q6LCA3_HUMAN,Q5JPU3_HUMAN,Q5JPU1_HUMAN,A5YPB6_HUMAN	.	UPI0000D4E0D1	SNV	PDHA1,synonymous_variant,p.%3D,ENST00000355808,;PDHA1,synonymous_variant,p.%3D,ENST00000422285,;PDHA1,synonymous_variant,p.%3D,ENST00000423505,;PDHA1,synonymous_variant,p.%3D,ENST00000540249,;PDHA1,synonymous_variant,p.%3D,ENST00000379805,;PDHA1,synonymous_variant,p.%3D,ENST00000379806,;PDHA1,synonymous_variant,p.%3D,ENST00000545074,;PDHA1,upstream_gene_variant,,ENST00000379804,;PDHA1,downstream_gene_variant,,ENST00000417819,;PDHA1,non_coding_transcript_exon_variant,,ENST00000479146,;PDHA1,upstream_gene_variant,,ENST00000481733,;PDHA1,downstream_gene_variant,,ENST00000492364,;PDHA1,upstream_gene_variant,,ENST00000478795,;	748	288	282	SUCCESS
MAGEB6	158809	.	GRCh37	X	26212302	26212302	+	synonymous_variant	Silent	SNP	C	C	A	rs772774443	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	56	183	0	ENST00000379034.1:c.339C>A	p.Gly113=	p.G113=	ENST00000379034	NM_173523.2	113	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS14217.1	339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCTCTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11736:SF67,hmmpanther:PTHR11736	.	.	ENSP00000368320	.	2/2	.	.	.	.	.	.	.	.	rs772774443	2/2	PASS	ENST00000379034	Transcript	.	G:0.0008	ENSG00000176746	23796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGB6_HUMAN	MAGEB6	HGNC	.	.	UPI00001413F4	SNV	MAGEB6,synonymous_variant,p.%3D,ENST00000379034,;	488	183	203	SUCCESS
FAM47A	158724	.	GRCh37	X	34150303	34150303	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	36	264	1	ENST00000346193.3:c.93G>A	p.Ala31=	p.A31=	ENST00000346193	NM_203408.3	31	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43926.1	93	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCGCGAA	SITE|p.A31A|c.93G>A|3	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	COSM1120762	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,synonymous_variant,p.%3D,ENST00000346193,;	145	265	249	SUCCESS
UBA1	7317	.	GRCh37	X	47062208	47062208	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	81	0	ENST00000335972.6:c.1228A>G	p.Met410Val	p.M410V	ENST00000335972	NM_003334.3	410	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS14275.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATGAAG	NONE	.	.	hmmpanther:PTHR10953:SF136,hmmpanther:PTHR10953,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572	.	.	ENSP00000338413	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000335972	Transcript	.	.	ENSG00000130985	12469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.02)	.	UBA1_HUMAN	UBA1	HGNC	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN	.	UPI0000137946	SNV	UBA1,missense_variant,p.Met410Val,ENST00000335972,;UBA1,missense_variant,p.Met410Val,ENST00000377351,;UBA1,downstream_gene_variant,,ENST00000457753,;UBA1,downstream_gene_variant,,ENST00000451702,;UBA1,downstream_gene_variant,,ENST00000412206,;UBA1,downstream_gene_variant,,ENST00000442035,;UBA1,downstream_gene_variant,,ENST00000427561,;INE1,upstream_gene_variant,,ENST00000456273,;UBA1,non_coding_transcript_exon_variant,,ENST00000490869,;	1411	81	95	SUCCESS
PORCN	64840	.	GRCh37	X	48368178	48368178	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	106	0	ENST00000326194.6:c.-31C>G		p.*11*	ENST00000326194	NM_203475.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14299.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCCATCT	NONE	.	.	.	.	.	ENSP00000322304	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000326194	Transcript	.	.	ENSG00000102312	17652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PORCN_HUMAN	PORCN	HGNC	C9JWI5_HUMAN	.	UPI000014187F	SNV	PORCN,5_prime_UTR_variant,,ENST00000361988,;PORCN,5_prime_UTR_variant,,ENST00000355961,;PORCN,5_prime_UTR_variant,,ENST00000355092,;PORCN,5_prime_UTR_variant,,ENST00000359882,;PORCN,5_prime_UTR_variant,,ENST00000367574,;PORCN,5_prime_UTR_variant,,ENST00000489940,;PORCN,5_prime_UTR_variant,,ENST00000537758,;PORCN,5_prime_UTR_variant,,ENST00000326194,;AF196972.9,upstream_gene_variant,,ENST00000445586,;PORCN,intron_variant,,ENST00000486272,;PORCN,missense_variant,p.Ile54Met,ENST00000485288,;PORCN,5_prime_UTR_variant,,ENST00000472520,;PORCN,5_prime_UTR_variant,,ENST00000470275,;PORCN,5_prime_UTR_variant,,ENST00000528612,;PORCN,non_coding_transcript_exon_variant,,ENST00000491243,;	13	106	101	SUCCESS
CCDC22	28952	.	GRCh37	X	49103272	49103272	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	42	0	ENST00000376227.3:c.795C>T	p.Ala265=	p.A265=	ENST00000376227	NM_014008.3	265	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14322.1	795	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCCCCAT	NONE	.	.	hmmpanther:PTHR15668,Pfam_domain:PF05667	.	.	ENSP00000365401	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000376227	Transcript	.	.	ENSG00000101997	28909	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD22_HUMAN	CCDC22	HGNC	.	.	UPI000006FFC7	SNV	CCDC22,synonymous_variant,p.%3D,ENST00000376227,;FOXP3,downstream_gene_variant,,ENST00000376199,;FOXP3,downstream_gene_variant,,ENST00000376207,;FOXP3,downstream_gene_variant,,ENST00000455775,;FOXP3,downstream_gene_variant,,ENST00000557224,;FOXP3,downstream_gene_variant,,ENST00000376197,;FOXP3,downstream_gene_variant,,ENST00000518685,;CCDC22,downstream_gene_variant,,ENST00000490300,;CCDC22,downstream_gene_variant,,ENST00000496651,;	965	42	30	SUCCESS
CCNB3	85417	.	GRCh37	X	50037910	50037910	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	32	191	0	ENST00000276014.7:c.252G>C	p.Glu84Asp	p.E84D	ENST00000276014	NM_033031.2	84	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS14331.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGTTTGT	NONE	.	.	.	.	.	ENSP00000365210	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000376042	Transcript	.	.	ENSG00000147082	18709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.08)	.	CCNB3_HUMAN	CCNB3	HGNC	Q8WTR6_HUMAN	.	UPI000022DC76	SNV	CCNB3,missense_variant,p.Glu84Asp,ENST00000376042,;CCNB3,missense_variant,p.Glu84Asp,ENST00000276014,;CCNB3,intron_variant,,ENST00000348603,;CCNB3,intron_variant,,ENST00000376038,;CCNB3,missense_variant,p.Glu84Asp,ENST00000476167,;	550	191	169	SUCCESS
DGKK	139189	.	GRCh37	X	50147103	50147103	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	15	105	0	ENST00000376025.2:n.1082G>A		p.*361*	ENST00000376025				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCAGTGC	NONE	.	.	.	.	.	.	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000376025	Transcript	.	.	ENSG00000204466	32395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DGKK	HGNC	.	.	.	SNV	DGKK,non_coding_transcript_exon_variant,,ENST00000376025,;DGKK,non_coding_transcript_exon_variant,,ENST00000546288,;	1082	105	99	SUCCESS
SHROOM4	57477	.	GRCh37	X	50345797	50345797	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1345847842	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	18	143	0	ENST00000289292.7:c.3778T>C	p.Phe1260Leu	p.F1260L	ENST00000289292		1260	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS35277.1	3778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAAGTGCT	NONE	.	.	PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012,Pfam_domain:PF08687	.	.	ENSP00000365188	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.3)	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,missense_variant,p.Phe1260Leu,ENST00000376020,;SHROOM4,missense_variant,p.Phe1260Leu,ENST00000289292,;SHROOM4,missense_variant,p.Phe1144Leu,ENST00000460112,;	3804	143	85	SUCCESS
HUWE1	10075	.	GRCh37	X	53563161	53563161	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	50	264	0	ENST00000262854.6:c.12478C>G	p.Leu4160Val	p.L4160V	ENST00000262854	NM_031407.5	4160	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS35301.1	12478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGATAAA	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Gene3D:1c4zA02,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000340648	.	79/83	.	.	.	.	.	.	.	.	.	79/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Leu4160Val,ENST00000342160,;HUWE1,missense_variant,p.Leu3194Val,ENST00000427052,;HUWE1,missense_variant,p.Leu4160Val,ENST00000262854,;HUWE1,missense_variant,p.Leu983Val,ENST00000426907,;HUWE1,non_coding_transcript_exon_variant,,ENST00000474971,;HUWE1,downstream_gene_variant,,ENST00000463852,;HUWE1,downstream_gene_variant,,ENST00000480438,;HUWE1,upstream_gene_variant,,ENST00000488459,;	12936	264	232	SUCCESS
ITIH6	347365	.	GRCh37	X	54823434	54823434	+	synonymous_variant	Silent	SNP	G	G	A	rs769059777	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	298	12	308	0	ENST00000218436.6:c.198C>T	p.Ala66=	p.A66=	ENST00000218436	NM_198510.2	66	gcC/gcT	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS14361.1	198	MUTECT|MUSE	.	TCATGGGCTTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338,Pfam_domain:PF08487,SMART_domains:SM00609	A:0	.	ENSP00000218436	A:0	2/13	.	.	.	.	.	.	.	.	rs769059777	2/13	PASS	ENST00000218436	Transcript	.	A:0.0003	ENSG00000102313	28907	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,synonymous_variant,p.%3D,ENST00000218436,;	228	308	310	SUCCESS
SPIN4	139886	.	GRCh37	X	62570078	62570078	+	synonymous_variant	Silent	SNP	A	A	G	rs782541994	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	40	225	0	ENST00000335144.3:c.621T>C	p.His207=	p.H207=	ENST00000335144	NM_001012968.2	207	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS43964.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCATGCTC	NONE	byFrequency	.	Pfam_domain:PF02513,hmmpanther:PTHR10405:SF9,hmmpanther:PTHR10405	.	.	ENSP00000334163	.	1/1	.	.	.	.	.	.	.	.	rs782541994	1/1	PASS	ENST00000335144	Transcript	.	.	ENSG00000186767	27040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIN4_HUMAN	SPIN4	HGNC	.	.	UPI000013FD3C	SNV	SPIN4,synonymous_variant,p.%3D,ENST00000335144,;SPIN4,synonymous_variant,p.%3D,ENST00000374884,;RP11-357C3.3,intron_variant,,ENST00000610234,;RP11-357C3.3,intron_variant,,ENST00000610088,;SPIN4-AS1,intron_variant,,ENST00000451979,;	1141	225	173	SUCCESS
FOXO4	4303	.	GRCh37	X	70320820	70320820	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367715683	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	122	0	ENST00000374259.3:c.740G>A	p.Arg247His	p.R247H	ENST00000374259	NM_005938.3	247	cGt/cAt	0	A:0	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS43969.1	740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCGTGAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11829:SF135,hmmpanther:PTHR11829	A:0	A:0.0002	ENSP00000363377	A:0	2/3	.	.	.	.	.	.	.	.	rs367715683	2/3	PASS	ENST00000374259	Transcript	.	A:0.0003	ENSG00000184481	7139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0.001	tolerated(0.11)	.	FOXO4_HUMAN	FOXO4	HGNC	.	.	UPI00002122FA	SNV	FOXO4,missense_variant,p.Arg192His,ENST00000341558,;FOXO4,missense_variant,p.Arg247His,ENST00000374259,;CXorf65,downstream_gene_variant,,ENST00000374251,;FOXO4,downstream_gene_variant,,ENST00000466874,;FOXO4,downstream_gene_variant,,ENST00000464598,;CXorf65,downstream_gene_variant,,ENST00000466160,;CXorf65,downstream_gene_variant,,ENST00000438526,;	1072	122	105	SUCCESS
CYSLTR1	10800	.	GRCh37	X	77528233	77528233	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	19	151	0	ENST00000373304.3:c.1011A>G	p.Val337=	p.V337=	ENST00000373304	NM_001282188.1	337	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS14439.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTATACTTT	NONE	.	.	.	.	.	ENSP00000362401	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373304	Transcript	.	.	ENSG00000173198	17451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLTR1_HUMAN	CYSLTR1	HGNC	Q38Q91_HUMAN,Q38Q88_HUMAN	.	UPI000003ACDF	SNV	CYSLTR1,synonymous_variant,p.%3D,ENST00000373304,;	1304	151	108	SUCCESS
CYLC1	1538	.	GRCh37	X	83129239	83129239	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	24	132	0	ENST00000329312.4:c.1523A>G	p.Asp508Gly	p.D508G	ENST00000329312	NM_021118.2	508	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS35341.1	1523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGATATCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	COSM4111330,COSM4111329	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.549)	.	tolerated(0.14)	1,1	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Asp508Gly,ENST00000329312,;	1560	132	85	SUCCESS
PCDH11X	27328	.	GRCh37	X	91133861	91133861	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	345	88	480	0	ENST00000373094.1:c.2622G>C	p.Lys874Asn	p.K874N	ENST00000373094	NM_032968.3	874	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS14461.1	2622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGAAGCA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	tolerated(0.08)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Lys874Asn,ENST00000373088,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000361724,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000395337,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000298274,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000504220,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000406881,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000373094,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000373097,;PCDH11X,missense_variant,p.Lys874Asn,ENST00000361655,;	3467	480	434	SUCCESS
FAM133A	286499	.	GRCh37	X	92964819	92964819	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	40	0	ENST00000322139.4:c.401A>G	p.Lys134Arg	p.K134R	ENST00000322139	NM_001171111.1	134	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14466.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31911:SF4,hmmpanther:PTHR31911	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,missense_variant,p.Lys134Arg,ENST00000355813,;FAM133A,missense_variant,p.Lys134Arg,ENST00000538690,;FAM133A,missense_variant,p.Lys134Arg,ENST00000332647,;FAM133A,missense_variant,p.Lys134Arg,ENST00000322139,;	962	40	34	SUCCESS
RASSF4	83937	.	GRCh37	10	45486412	45486412	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	33	0	ENST00000340258.5:c.702A>G	p.Lys234=	p.K234=	ENST00000340258	NM_032023.3	234	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS7208.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAGACTG	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF4,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000339692	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000340258	Transcript	.	.	ENSG00000107551	20793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF4_HUMAN	RASSF4	HGNC	.	.	UPI000006F93A	SNV	RASSF4,synonymous_variant,p.%3D,ENST00000334940,;RASSF4,synonymous_variant,p.%3D,ENST00000340258,;RASSF4,synonymous_variant,p.%3D,ENST00000484477,;RASSF4,3_prime_UTR_variant,,ENST00000374417,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471808,;RASSF4,non_coding_transcript_exon_variant,,ENST00000472561,;RASSF4,non_coding_transcript_exon_variant,,ENST00000465735,;RASSF4,non_coding_transcript_exon_variant,,ENST00000493490,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471941,;RASSF4,non_coding_transcript_exon_variant,,ENST00000489171,;RASSF4,downstream_gene_variant,,ENST00000483709,;	815	33	37	SUCCESS
SAMD8	142891	.	GRCh37	10	76910777	76910777	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	40	134	1	ENST00000542569.1:c.491G>T	p.Gly164Val	p.G164V	ENST00000542569	NM_144660.2	164	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS53543.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGATTTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21290:SF25,hmmpanther:PTHR21290	.	.	ENSP00000438042	.	2/6	.	.	.	.	.	.	.	.	COSM539751,COSM539752	2/6	PASS	ENST00000542569	Transcript	.	.	ENSG00000156671	26320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.269)	.	tolerated(0.13)	1,1	SAMD8_HUMAN	SAMD8	HGNC	Q5JSC9_HUMAN	.	UPI000023FEEB	SNV	SAMD8,missense_variant,p.Gly164Val,ENST00000542569,;SAMD8,missense_variant,p.Gly164Val,ENST00000447533,;SAMD8,missense_variant,p.Gly164Val,ENST00000372687,;SAMD8,missense_variant,p.Gly227Val,ENST00000372690,;	594	135	104	SUCCESS
CEP164	22897	.	GRCh37	11	117263284	117263284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	42	96	0	ENST00000278935.3:c.2434G>T	p.Gly812Trp	p.G812W	ENST00000278935	NM_014956.4	812	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS31683.1	2434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGGGCAA	NONE	.	.	hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8	.	.	ENSP00000278935	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000278935	Transcript	.	.	ENSG00000110274	29182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	CE164_HUMAN	CEP164	HGNC	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN	.	UPI00001FA422	SNV	CEP164,missense_variant,p.Gly812Trp,ENST00000278935,;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,downstream_gene_variant,,ENST00000529153,;	2581	96	135	SUCCESS
EP400NL	0	.	GRCh37	12	132588954	132588954	+	intron_variant	Intron	SNP	C	C	T	rs367613174	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	66	0	ENST00000443539.2:c.151-158C>T		p.*51*	ENST00000443539				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCCGGGGC	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000404338	.	.	.	.	.	.	.	.	.	.	rs367613174	.	PASS	ENST00000443539	Transcript	.	.	ENSG00000185684	26602	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E400N_HUMAN	EP400NL	HGNC	F2Z2G7_HUMAN	.	UPI00003E27F2	SNV	EP400NL,missense_variant,p.Pro61Leu,ENST00000389560,;EP400NL,missense_variant,p.Pro61Leu,ENST00000539205,;EP400NL,missense_variant,p.Pro130Leu,ENST00000376625,;EP400NL,missense_variant,p.Pro61Leu,ENST00000454179,;EP400NL,intron_variant,,ENST00000392352,;EP400NL,intron_variant,,ENST00000443539,;EP400NL,intron_variant,,ENST00000407361,;EP400NL,intron_variant,,ENST00000361109,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,missense_variant,p.Pro62Leu,ENST00000332441,;EP400NL,missense_variant,p.Pro130Leu,ENST00000446190,;	.	66	46	SUCCESS
IRAK4	51135	.	GRCh37	12	44176211	44176211	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	68	0	ENST00000551736.1:c.1043T>C	p.Ile348Thr	p.I348T	ENST00000551736	NM_001114182.2	348	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS8744.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATTGTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF0,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038189,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000390651	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000448290	Transcript	.	.	ENSG00000198001	17967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0)	.	IRAK4_HUMAN	IRAK4	HGNC	Q69FE3_HUMAN,F8VW24_HUMAN,F8VR40_HUMAN	.	UPI000004ABE6	SNV	IRAK4,missense_variant,p.Ile348Thr,ENST00000448290,;IRAK4,missense_variant,p.Ile224Thr,ENST00000440781,;IRAK4,missense_variant,p.Ile224Thr,ENST00000431837,;IRAK4,missense_variant,p.Ile348Thr,ENST00000551736,;IRAK4,3_prime_UTR_variant,,ENST00000547101,;IRAK4,3_prime_UTR_variant,,ENST00000552309,;IRAK4,3_prime_UTR_variant,,ENST00000547521,;IRAK4,3_prime_UTR_variant,,ENST00000550615,;IRAK4,3_prime_UTR_variant,,ENST00000550386,;IRAK4,non_coding_transcript_exon_variant,,ENST00000547928,;	1114	68	81	SUCCESS
TMEM5	0	.	GRCh37	12	64196151	64196151	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756576089	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	68	1	ENST00000261234.6:c.709G>A	p.Val237Met	p.V237M	ENST00000261234	NM_014254.2	237	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS8966.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGTGGAT	NONE	byFrequency	.	hmmpanther:PTHR15576,hmmpanther:PTHR15576:SF1	.	.	ENSP00000261234	.	4/6	.	.	.	.	.	.	.	.	rs756576089	4/6	PASS	ENST00000261234	Transcript	.	.	ENSG00000118600	13530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.11)	.	TMEM5_HUMAN	TMEM5	HGNC	G3V1K2_HUMAN	.	UPI000006E0CE	SNV	TMEM5,missense_variant,p.Val237Met,ENST00000261234,;TMEM5,5_prime_UTR_variant,,ENST00000537373,;TMEM5,downstream_gene_variant,,ENST00000537982,;TMEM5,3_prime_UTR_variant,,ENST00000543342,;TMEM5,upstream_gene_variant,,ENST00000433461,;	867	69	82	SUCCESS
NTRK3	4916	.	GRCh37	15	88472268	88472268	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	16	0	ENST00000360948.2:c.2133+154G>T		p.*711*	ENST00000360948	NM_001012338.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32322.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCAAGAG	NONE	.	.	.	.	.	ENSP00000354207	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODIFIER	16/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,3_prime_UTR_variant,,ENST00000558676,;NTRK3,intron_variant,,ENST00000558576,;NTRK3,intron_variant,,ENST00000557856,;NTRK3,intron_variant,,ENST00000394480,;NTRK3,intron_variant,,ENST00000542733,;NTRK3,intron_variant,,ENST00000357724,;NTRK3,intron_variant,,ENST00000355254,;NTRK3,intron_variant,,ENST00000360948,;NTRK3,downstream_gene_variant,,ENST00000559680,;	.	16	22	SUCCESS
ABCA3	21	.	GRCh37	16	2327903	2327903	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368905104	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	34	0	ENST00000301732.5:c.4886C>T	p.Ala1629Val	p.A1629V	ENST00000301732	NM_001089.2	1629	gCc/gTc	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS10466.1	4886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGGCCTTG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98	.	A:0	ENSP00000301732	.	31/33	.	.	.	.	.	.	.	.	rs368905104	31/33	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.27)	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,missense_variant,p.Ala1571Val,ENST00000382381,;ABCA3,missense_variant,p.Ala1629Val,ENST00000301732,;MIR4717,downstream_gene_variant,,ENST00000584656,;MIR940,downstream_gene_variant,,ENST00000567888,;MIR940,downstream_gene_variant,,ENST00000563734,;MIR940,downstream_gene_variant,,ENST00000562838,;ABCA3,downstream_gene_variant,,ENST00000569062,;ABCA3,downstream_gene_variant,,ENST00000566200,;	5587	34	28	SUCCESS
C16orf96	342346	.	GRCh37	16	4606689	4606689	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367941862	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	14	143	0	ENST00000444310.4:c.199G>A	p.Ala67Thr	p.A67T	ENST00000444310	NM_001145011.1	67	Gcc/Acc	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS53986.1	199	RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGCCCAG	NONE	byFrequency|byCluster	.	.	.	A:0.0003	ENSP00000415027	.	1/16	.	.	.	.	.	.	.	.	rs367941862	1/16	PASS	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Ala67Thr,ENST00000444310,;RP11-709D24.5,downstream_gene_variant,,ENST00000563704,;	199	143	122	SUCCESS
SLC6A2	6530	.	GRCh37	16	55725913	55725913	+	synonymous_variant	Silent	SNP	T	T	C	rs567119800	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	138	0	ENST00000379906.2:c.867T>C	p.Asn289=	p.N289=	ENST00000379906	NM_001043.3	289	aaT/aaC	0	.	A:0	.	A:0	.	C	N	protein_coding	YES	CCDS54011.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAATGGCAT	NONE	by1000G	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF37,PROSITE_profiles:PS50267	A:0.001	.	ENSP00000219833	A:0	5/14	.	.	.	.	.	.	.	.	rs567119800	5/14	PASS	ENST00000219833	Transcript	.	A:0.0002	ENSG00000103546	11048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SC6A2_HUMAN	SLC6A2	HGNC	Q9Y6W9_HUMAN,H3BMY5_HUMAN	.	UPI00000734FD	SNV	SLC6A2,synonymous_variant,p.%3D,ENST00000219833,;SLC6A2,synonymous_variant,p.%3D,ENST00000561820,;SLC6A2,synonymous_variant,p.%3D,ENST00000568943,;SLC6A2,synonymous_variant,p.%3D,ENST00000379906,;SLC6A2,synonymous_variant,p.%3D,ENST00000414754,;SLC6A2,synonymous_variant,p.%3D,ENST00000567238,;SLC6A2,intron_variant,,ENST00000568529,;SLC6A2,intron_variant,,ENST00000566163,;	918	139	114	SUCCESS
MAPK7	5598	.	GRCh37	17	19285247	19285247	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	24	0	ENST00000308406.5:c.1631G>A	p.Gly544Glu	p.G544E	ENST00000308406	NM_139033.2	544	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS11206.1	1631	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ACGGGGGGCTG	NONE	.	.	.	.	.	ENSP00000311005	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.51)	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,missense_variant,p.Gly544Glu,ENST00000395602,;MAPK7,missense_variant,p.Gly544Glu,ENST00000395604,;MAPK7,missense_variant,p.Gly544Glu,ENST00000308406,;MAPK7,missense_variant,p.Gly405Glu,ENST00000299612,;MFAP4,downstream_gene_variant,,ENST00000395592,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,non_coding_transcript_exon_variant,,ENST00000573417,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000572716,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572853,;	2017	24	14	SUCCESS
SDK2	54549	.	GRCh37	17	71437017	71437017	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	57	157	0	ENST00000392650.3:c.659C>T	p.Pro220Leu	p.P220L	ENST00000392650	NM_001144952.1	220	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS45769.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTGGGATG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF13895,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000376421	.	6/45	.	.	.	.	.	.	.	.	.	6/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Pro220Leu,ENST00000388726,;SDK2,missense_variant,p.Pro220Leu,ENST00000392650,;SDK2,upstream_gene_variant,,ENST00000479356,;	660	157	194	SUCCESS
PODNL1	79883	.	GRCh37	19	14046601	14046601	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147712582	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	74	0	ENST00000339560.5:c.448G>A	p.Ala150Thr	p.A150T	ENST00000339560	NM_024825.3	150	Gcg/Acg	0	T:0.0009	.	.	.	.	T	A/T	protein_coding	YES	CCDS12300.1	448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGCGACAC	CODON|p.A150V|c.449C>T|5	byFrequency|byCluster	.	hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	T:0	ENSP00000345175	.	5/8	.	.	.	.	.	.	.	.	rs147712582,COSM3403823	5/8	PASS	ENST00000339560	Transcript	.	.	ENSG00000132000	26275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.713)	.	tolerated(0.08)	0,1	PONL1_HUMAN	PODNL1	HGNC	.	.	UPI0000366D47	SNV	PODNL1,missense_variant,p.Ala150Thr,ENST00000339560,;PODNL1,missense_variant,p.Ala68Thr,ENST00000254320,;PODNL1,missense_variant,p.Ala148Thr,ENST00000538371,;PODNL1,intron_variant,,ENST00000538517,;PODNL1,intron_variant,,ENST00000585607,;PODNL1,intron_variant,,ENST00000588764,;PODNL1,intron_variant,,ENST00000586075,;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,upstream_gene_variant,,ENST00000587954,;CC2D1A,downstream_gene_variant,,ENST00000318003,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,non_coding_transcript_exon_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;	722	75	53	SUCCESS
S1PR4	8698	.	GRCh37	19	3179635	3179635	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1480177703	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	84	0	ENST00000246115.3:c.845C>A	p.Ala282Asp	p.A282D	ENST00000246115	NM_003775.3	282	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS12105.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCCAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF13,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01526	.	.	ENSP00000246115	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000246115	Transcript	.	.	ENSG00000125910	3170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	tolerated(0.12)	.	S1PR4_HUMAN	S1PR4	HGNC	.	.	UPI0000050462	SNV	S1PR4,missense_variant,p.Ala282Asp,ENST00000246115,;S1PR4,downstream_gene_variant,,ENST00000591346,;	900	84	49	SUCCESS
LHB	3972	.	GRCh37	19	49519408	49519408	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201749590	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	62	0	ENST00000221421.2:c.343C>G	p.Arg115Gly	p.R115G	ENST00000221421	NM_000894.2	115	Cgc/Ggc	0	.	A:0	.	A:0	.	C	R/G	protein_coding	YES	CCDS12748.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGCGGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12,PROSITE_patterns:PS00689,Gene3D:2.10.90.10,Pfam_domain:PF00007,SMART_domains:SM00068,Superfamily_domains:SSF57501	A:0	.	ENSP00000221421	A:0.001	3/3	.	.	.	.	.	.	.	.	rs201749590	3/3	PASS	ENST00000221421	Transcript	1	A:0.0002	ENSG00000104826	6584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	A:0	deleterious(0.01)	.	LSHB_HUMAN	LHB	HGNC	Q8WXL0_HUMAN	.	UPI00000378AB	SNV	LHB,missense_variant,p.Arg115Gly,ENST00000221421,;RUVBL2,downstream_gene_variant,,ENST00000595090,;RUVBL2,downstream_gene_variant,,ENST00000413176,;RUVBL2,downstream_gene_variant,,ENST00000601968,;CTB-60B18.10,downstream_gene_variant,,ENST00000600007,;RUVBL2,downstream_gene_variant,,ENST00000595002,;RUVBL2,downstream_gene_variant,,ENST00000596247,;RUVBL2,downstream_gene_variant,,ENST00000221413,;RUVBL2,downstream_gene_variant,,ENST00000594338,;	343	62	51	SUCCESS
MUC16	94025	.	GRCh37	19	9033614	9033614	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	24	155	1	ENST00000397910.4:c.36323G>A	p.Gly12108Asp	p.G12108D	ENST00000397910	NM_024690.2	12108	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS54212.1	36323	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACCCTGC	NONE	.	.	Superfamily_domains:0047452,SMART_domains:SM00200,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	9/84	.	.	.	.	.	.	.	.	.	9/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.774)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Gly12108Asp,ENST00000397910,;	36527	156	188	SUCCESS
IVL	3713	.	GRCh37	1	152883644	152883644	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	54	146	0	ENST00000368764.3:c.1371G>C	p.Val457=	p.V457=	ENST00000368764		457	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS1030.1	1371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,synonymous_variant,p.%3D,ENST00000368764,;IVL,synonymous_variant,p.%3D,ENST00000392667,;	1435	146	149	SUCCESS
THBS3	7059	.	GRCh37	1	155170766	155170766	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	276	91	215	0	ENST00000368378.3:c.1470del	p.Gln491ArgfsTer114	p.Q491Rfs*114	ENST00000368378	NM_007112.4	490	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS1099.1	1470	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTGCCCAGA	NONE	.	.	PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,Gene3D:1ux6A01,Superfamily_domains:0044556	.	.	ENSP00000357362	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	deletion	THBS3,frameshift_variant,p.Gln491ArgfsTer114,ENST00000368378,;THBS3,frameshift_variant,p.Gln20ArgfsTer114,ENST00000541990,;THBS3,frameshift_variant,p.Gln371ArgfsTer114,ENST00000457183,;THBS3,5_prime_UTR_variant,,ENST00000541576,;RP11-263K19.4,intron_variant,,ENST00000453136,;RP11-263K19.4,intron_variant,,ENST00000422665,;RP11-263K19.4,intron_variant,,ENST00000430312,;RP11-263K19.4,downstream_gene_variant,,ENST00000454348,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;THBS3,non_coding_transcript_exon_variant,,ENST00000460050,;THBS3,upstream_gene_variant,,ENST00000465596,;THBS3,frameshift_variant,p.Gln341ArgfsTer36,ENST00000428962,;THBS3,non_coding_transcript_exon_variant,,ENST00000496332,;THBS3,upstream_gene_variant,,ENST00000498500,;THBS3,upstream_gene_variant,,ENST00000469769,;	1491	215	367	SUCCESS
THBS3	7059	.	GRCh37	1	155175006	155175006	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs552940002	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	55	158	0	ENST00000368378.3:c.388C>T	p.Arg130Ter	p.R130*	ENST00000368378	NM_007112.4	130	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1099.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGGAGTC	NONE	.	.	hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000357362	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,stop_gained,p.Arg130Ter,ENST00000368378,;THBS3,5_prime_UTR_variant,,ENST00000541990,;THBS3,intron_variant,,ENST00000457183,;MTX1,upstream_gene_variant,,ENST00000368376,;MTX1,upstream_gene_variant,,ENST00000609421,;MTX1,upstream_gene_variant,,ENST00000316721,;THBS3,upstream_gene_variant,,ENST00000541576,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000453136,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000422665,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000430312,;RP11-263K19.4,downstream_gene_variant,,ENST00000454348,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;THBS3,upstream_gene_variant,,ENST00000460050,;THBS3,intron_variant,,ENST00000428962,;MTX1,upstream_gene_variant,,ENST00000481771,;THBS3,upstream_gene_variant,,ENST00000496332,;MTX1,upstream_gene_variant,,ENST00000424959,;	409	158	138	SUCCESS
MEX3A	92312	.	GRCh37	1	156051766	156051766	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	50	141	0	ENST00000532414.2:c.24A>G	p.Gly8=	p.G8=	ENST00000532414	NM_001093725.1	8	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS53377.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATTCCAGA	NONE	.	.	hmmpanther:PTHR23285:SF2,hmmpanther:PTHR23285	.	.	ENSP00000432845	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000532414	Transcript	.	.	ENSG00000254726	33482	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEX3A_HUMAN	MEX3A	HGNC	.	.	UPI0000ECD9C5	SNV	MEX3A,synonymous_variant,p.%3D,ENST00000532414,;LMNA,upstream_gene_variant,,ENST00000368301,;AL355388.1,downstream_gene_variant,,ENST00000410679,;LMNA,upstream_gene_variant,,ENST00000495341,;MEX3A,upstream_gene_variant,,ENST00000442784,;LMNA,upstream_gene_variant,,ENST00000470835,;LMNA,upstream_gene_variant,,ENST00000502751,;	24	141	164	SUCCESS
SUCO	51430	.	GRCh37	1	172571313	172571313	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs916177336	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	63	0	ENST00000263688.3:c.3128A>T	p.Tyr1043Phe	p.Y1043F	ENST00000263688	NM_014283.3	1043	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS1303.1	3128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTATATTT	NONE	.	.	hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.59)	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,missense_variant,p.Tyr672Phe,ENST00000610051,;SUCO,missense_variant,p.Tyr1195Phe,ENST00000608151,;SUCO,missense_variant,p.Tyr1194Phe,ENST00000367723,;SUCO,missense_variant,p.Tyr1043Phe,ENST00000263688,;SUCO,non_coding_transcript_exon_variant,,ENST00000486569,;	3347	63	72	SUCCESS
SDCBP2	27111	.	GRCh37	20	1299029	1299029	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	58	0	ENST00000339987.3:c.158A>T	p.Tyr53Phe	p.Y53F	ENST00000339987	NM_001199784.1	53	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS42848.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATATAATTT	NONE	.	.	hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF13	.	.	ENSP00000354013	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000360779	Transcript	.	.	ENSG00000125775	15756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	tolerated(0.08)	.	SDCB2_HUMAN	SDCBP2	HGNC	.	.	UPI0000135710	SNV	SDCBP2,missense_variant,p.Tyr53Phe,ENST00000381812,;SDCBP2,missense_variant,p.Tyr53Phe,ENST00000339987,;SDCBP2,missense_variant,p.Tyr53Phe,ENST00000360779,;SDCBP2,upstream_gene_variant,,ENST00000381808,;	332	58	53	SUCCESS
TRPM2	7226	.	GRCh37	21	45810827	45810827	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	102	0	ENST00000300482.5:c.1359C>G	p.Asp453Glu	p.D453E	ENST00000300482		453	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS13710.1	1359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACCACCA	NONE	.	.	hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800	.	.	ENSP00000381023	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000397928	Transcript	.	.	ENSG00000142185	12339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.24)	.	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,missense_variant,p.Asp453Glu,ENST00000300481,;TRPM2,missense_variant,p.Asp453Glu,ENST00000397928,;TRPM2,missense_variant,p.Asp453Glu,ENST00000397932,;TRPM2,missense_variant,p.Asp453Glu,ENST00000300482,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	1804	102	123	SUCCESS
SGSM1	129049	.	GRCh37	22	25246291	25246291	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757023732	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	30	78	1	ENST00000400359.4:c.347C>A	p.Pro116Gln	p.P116Q	ENST00000400359	NM_133454.2	116	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS46674.1	347	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTGCCGAAGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50826,Pfam_domain:PF02759,Superfamily_domains:0052343	.	.	ENSP00000383212	.	5/26	.	.	.	.	.	.	.	.	rs757023732	5/26	PASS	ENST00000400359	Transcript	.	.	ENSG00000167037	29410	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.146)	.	tolerated(0.2)	.	SGSM1_HUMAN	SGSM1	HGNC	.	.	UPI00006EB130	SNV	SGSM1,missense_variant,p.Pro116Gln,ENST00000400359,;SGSM1,missense_variant,p.Pro116Gln,ENST00000400358,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;	354	80	103	SUCCESS
MYO7B	4648	.	GRCh37	2	128366325	128366325	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs531750826	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	45	138	0	ENST00000409816.2:c.2686G>A	p.Ala896Thr	p.A896T	ENST00000409816		896	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46405.1	2686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGCTCTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF352	.	.	ENSP00000415090	.	22/47	.	.	.	.	.	.	.	.	rs531750826	22/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.42)	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,missense_variant,p.Ala896Thr,ENST00000389524,;MYO7B,missense_variant,p.Ala896Thr,ENST00000409816,;MYO7B,missense_variant,p.Ala896Thr,ENST00000428314,;MYO7B,upstream_gene_variant,,ENST00000563538,;	2739	138	132	SUCCESS
LRP2	4036	.	GRCh37	2	170029679	170029679	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	66	155	0	ENST00000263816.3:c.11070C>T	p.Tyr3690=	p.Y3690=	ENST00000263816	NM_004525.2	3690	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS2232.1	11070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGGTAATT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:1n7dA02,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	57/79	.	.	.	.	.	.	.	.	.	57/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,synonymous_variant,p.%3D,ENST00000263816,;LRP2,downstream_gene_variant,,ENST00000461418,;	11356	155	173	SUCCESS
IDH1	3417	.	GRCh37	2	209113113	209113113	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs121913499	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	79	166	0	ENST00000345146.2:c.394C>G	p.Arg132Gly	p.R132G	ENST00000345146	NM_005896.2	132	Cgt/Ggt	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS2381.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGACCTA	SITE|p.R132G|c.394C>G|164,CODON|p.R132H|c.395_396GT>AC|4,CODON|p.R132S|c.394_395CG>TC|6,CODON|p.R132H|c.395G>A|3975,CODON|p.R132L|c.395G>T|82,BUFFER|p.R132C|c.394C>T|587,BUFFER|p.R132S|c.394C>A|145	byCluster	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	4/10	.	.	.	.	.	.	.	.	rs121913499,COSM28749,COSM28747,COSM28748	4/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	0,1,1,1	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Arg132Gly,ENST00000345146,;IDH1,missense_variant,p.Arg132Gly,ENST00000415913,;IDH1,missense_variant,p.Arg132Gly,ENST00000446179,;IDH1,missense_variant,p.Arg132Gly,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	776	166	173	SUCCESS
EML4	27436	.	GRCh37	2	42488346	42488346	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs760391629	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	33	0	ENST00000318522.5:c.424C>T	p.Arg142Ter	p.R142*	ENST00000318522	NM_019063.3	142	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS1807.1	424	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTCGAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11	.	.	ENSP00000320663	.	4/23	.	.	.	.	.	.	.	.	rs760391629	4/23	PASS	ENST00000318522	Transcript	.	.	ENSG00000143924	1316	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EMAL4_HUMAN	EML4	HGNC	F2Z2B5_HUMAN	.	UPI0000140350	SNV	EML4,stop_gained,p.Arg142Ter,ENST00000401738,;EML4,stop_gained,p.Arg142Ter,ENST00000318522,;EML4,intron_variant,,ENST00000402711,;EML4,non_coding_transcript_exon_variant,,ENST00000409040,;	686	33	52	SUCCESS
BAP1	8314	.	GRCh37	3	52440918	52440918	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	50	122	0	ENST00000460680.1:c.586T>G	p.Trp196Gly	p.W196G	ENST00000460680	NM_004656.3	196	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS2853.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCAGGGCC	CODON|p.?|c.581-?_659+?del|6	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	8/17	.	.	.	.	.	.	.	.	COSM1633250	8/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,missense_variant,p.Trp196Gly,ENST00000296288,;BAP1,missense_variant,p.Trp196Gly,ENST00000460680,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,downstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	1058	122	88	SUCCESS
USP38	84640	.	GRCh37	4	144134995	144134995	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	52	95	0	ENST00000307017.4:c.1866T>C	p.Pro622=	p.P622=	ENST00000307017	NM_032557.5	622	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3758.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTTCCTC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF386,hmmpanther:PTHR24006,Pfam_domain:PF00443	.	.	ENSP00000303434	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000307017	Transcript	.	.	ENSG00000170185	20067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP38_HUMAN	USP38	HGNC	B3KSB9_HUMAN	.	UPI0000047AF9	SNV	USP38,synonymous_variant,p.%3D,ENST00000510377,;USP38,synonymous_variant,p.%3D,ENST00000307017,;USP38,3_prime_UTR_variant,,ENST00000511739,;	2372	95	131	SUCCESS
EPB41L4A	64097	.	GRCh37	5	111754814	111754814	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	54	1	ENST00000261486.5:c.-78C>T		p.*26*	ENST00000261486	NM_022140.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43350.1	.	MUTECT|MUSE	.	GCGATGCATTA	NONE	.	.	.	.	.	ENSP00000261486	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261486	Transcript	.	.	ENSG00000129595	13278	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	E41LA_HUMAN	EPB41L4A	HGNC	Q8NEH8_HUMAN	.	UPI000020C3F8	SNV	EPB41L4A,5_prime_UTR_variant,,ENST00000261486,;EPB41L4A-AS2,upstream_gene_variant,,ENST00000600409,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000305368,;	200	55	52	SUCCESS
TRPC7	57113	.	GRCh37	5	135692416	135692416	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	95	218	1	ENST00000513104.1:c.660C>T	p.Asn220=	p.N220=	ENST00000513104	NM_020389.2	220	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS47267.2	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGTTCAT	NONE	.	.	TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	2/12	.	.	.	.	.	.	.	.	COSM165178,COSM165177	2/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,synonymous_variant,p.%3D,ENST00000502753,;TRPC7,synonymous_variant,p.%3D,ENST00000378459,;TRPC7,synonymous_variant,p.%3D,ENST00000513104,;TRPC7,synonymous_variant,p.%3D,ENST00000426057,;TRPC7,synonymous_variant,p.%3D,ENST00000355180,;TRPC7,synonymous_variant,p.%3D,ENST00000352189,;TRPC7,synonymous_variant,p.%3D,ENST00000514963,;TRPC7,synonymous_variant,p.%3D,ENST00000503275,;	943	219	220	SUCCESS
TLX3	30012	.	GRCh37	5	170736726	170736726	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771491238	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	52	0	ENST00000296921.5:c.357C>A	p.Ser119Arg	p.S119R	ENST00000296921	NM_021025.2	119	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS34288.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCCTTGG	NONE	byFrequency	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	.	.	ENSP00000296921	.	1/3	.	.	.	.	.	.	.	.	rs771491238	1/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	deleterious(0.02)	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,missense_variant,p.Ser119Arg,ENST00000296921,;	439	52	28	SUCCESS
DMGDH	29958	.	GRCh37	5	78322295	78322295	+	synonymous_variant	Silent	SNP	G	G	A	rs1272448763	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	93	218	0	ENST00000255189.3:c.2142C>T	p.Ala714=	p.A714=	ENST00000255189	NM_013391.3	714	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4044.1	2142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGGCATA	NONE	.	.	Gene3D:3.30.1360.120,Pfam_domain:PF01571,Superfamily_domains:SSF103025	.	.	ENSP00000255189	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000255189	Transcript	1	.	ENSG00000132837	24475	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M2GD_HUMAN	DMGDH	HGNC	.	.	UPI000013CE96	SNV	DMGDH,synonymous_variant,p.%3D,ENST00000523732,;DMGDH,synonymous_variant,p.%3D,ENST00000380311,;DMGDH,synonymous_variant,p.%3D,ENST00000540686,;DMGDH,synonymous_variant,p.%3D,ENST00000255189,;DMGDH,non_coding_transcript_exon_variant,,ENST00000523201,;DMGDH,3_prime_UTR_variant,,ENST00000518477,;DMGDH,3_prime_UTR_variant,,ENST00000517853,;	2171	218	259	SUCCESS
PDE7B	27115	.	GRCh37	6	136268612	136268612	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	50	122	0	ENST00000308191.6:c.34del	p.Ile12SerfsTer21	p.I12Sfs*21	ENST00000308191	NM_018945.3	11	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS5175.1	32	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCGAAATCT	CODON|p.E11K|c.31G>A|3	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF72	.	.	ENSP00000310661	.	2/13	.	.	.	.	.	.	.	.	COSM1073652	2/13	PASS	ENST00000308191	Transcript	.	.	ENSG00000171408	8792	2	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PDE7B_HUMAN	PDE7B	HGNC	.	.	UPI00000339FF	deletion	PDE7B,frameshift_variant,p.Ile12SerfsTer21,ENST00000308191,;	335	122	122	SUCCESS
RPP40	10799	.	GRCh37	6	4996590	4996590	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	86	0	ENST00000380051.2:c.624A>C	p.Lys208Asn	p.K208N	ENST00000380051	NM_006638.2	208	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS34333.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACTTTTGG	NONE	.	.	hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1,Pfam_domain:PF08584	.	.	ENSP00000369391	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000380051	Transcript	.	.	ENSG00000124787	20992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.529)	.	tolerated(0.1)	.	RPP40_HUMAN	RPP40	HGNC	.	.	UPI000020E473	SNV	RPP40,missense_variant,p.Lys185Asn,ENST00000319533,;RPP40,missense_variant,p.Lys148Asn,ENST00000464646,;RPP40,missense_variant,p.Lys208Asn,ENST00000380051,;RPP40,downstream_gene_variant,,ENST00000479782,;RPP40,downstream_gene_variant,,ENST00000468105,;	669	86	116	SUCCESS
TAS2R39	259285	.	GRCh37	7	142881004	142881004	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	59	144	0	ENST00000446620.1:c.493T>C	p.Ser165Pro	p.S165P	ENST00000446620	NM_176881.2	165	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47729.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTCCGTG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF40,hmmpanther:PTHR11394	.	.	ENSP00000405095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000446620	Transcript	.	.	ENSG00000236398	18886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	T2R39_HUMAN	TAS2R39	HGNC	Q50KL2_HUMAN	.	UPI00000620BE	SNV	TAS2R39,missense_variant,p.Ser165Pro,ENST00000446620,;	493	145	177	SUCCESS
LRRD1	401387	.	GRCh37	7	91794266	91794266	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	11	72	0	ENST00000430130.2:c.251A>G	p.Asn84Ser	p.N84S	ENST00000430130	NM_001161528.1	84	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS55124.1	251	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATTTTTC	NONE	.	.	.	.	.	ENSP00000405987	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000458448	Transcript	.	.	ENSG00000240720	34300	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.49)	.	LRRD1_HUMAN	LRRD1	HGNC	C9K0I1_HUMAN	.	UPI0001662314	SNV	LRRD1,missense_variant,p.Asn84Ser,ENST00000458448,;LRRD1,missense_variant,p.Asn84Ser,ENST00000430130,;LRRD1,5_prime_UTR_variant,,ENST00000454089,;LRRD1,intron_variant,,ENST00000343318,;LRRD1,downstream_gene_variant,,ENST00000437357,;CTB-161K23.1,intron_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;	452	72	118	SUCCESS
HCCS	3052	.	GRCh37	X	11139831	11139831	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	64	204	0	ENST00000321143.4:c.708G>A	p.Lys236=	p.K236=	ENST00000321143	NM_005333.4	236	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS14139.1	708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGGACTA	NONE	.	.	hmmpanther:PTHR12743,Pfam_domain:PF01265	.	.	ENSP00000326579	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000321143	Transcript	.	.	ENSG00000004961	4837	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCHL_HUMAN	HCCS	HGNC	.	.	UPI00001272B7	SNV	HCCS,synonymous_variant,p.%3D,ENST00000380763,;HCCS,synonymous_variant,p.%3D,ENST00000380762,;HCCS,synonymous_variant,p.%3D,ENST00000321143,;ARHGAP6,intron_variant,,ENST00000534860,;	910	204	189	SUCCESS
GEMIN8	54960	.	GRCh37	X	14027050	14027050	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	76	231	0	ENST00000380523.4:c.711C>T	p.Val237=	p.V237=	ENST00000380523	NM_017856.2	237	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14159.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGACCGG	NONE	.	.	hmmpanther:PTHR16238:SF7,hmmpanther:PTHR16238,Pfam_domain:PF15348	.	.	ENSP00000369895	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000380523	Transcript	.	.	ENSG00000046647	26044	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEMI8_HUMAN	GEMIN8	HGNC	H7BYE2_HUMAN	.	UPI0000070657	SNV	GEMIN8,synonymous_variant,p.%3D,ENST00000380523,;GEMIN8,synonymous_variant,p.%3D,ENST00000398355,;GEMIN8,downstream_gene_variant,,ENST00000332885,;	1030	231	219	SUCCESS
MUC5B	727897	.	GRCh37	11	1263483	1263484	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	179	44	255	0	ENST00000529681.1:c.5375_5376del	p.Glu1792ValfsTer3	p.E1792Vfs*3	ENST00000529681	NM_002458.2	1791	acAGag/acag	0	.	.	.	.	.	-	TE/TX	protein_coding	YES	CCDS44515.2	5373-5374	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGACAGAGTGG	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	deletion	MUC5B,frameshift_variant,p.Glu1792ValfsTer3,ENST00000529681,;MUC5B,frameshift_variant,p.Glu1795ValfsTer3,ENST00000447027,;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	5431-5432	255	223	SUCCESS
KRAS	3845	.	GRCh37	12	25380255	25380255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	27	127	0	ENST00000256078.4:c.203G>T	p.Arg68Met	p.R68M	ENST00000256078	NM_033360.2	68	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS8703.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCTCATT	BUFFER|p.A66_M67insEEYSA|c.198_199ins15|3	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000256078	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000256078	Transcript	.	.	ENSG00000133703	6407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RASK_HUMAN	KRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN	.	UPI0000133132	SNV	KRAS,missense_variant,p.Arg68Met,ENST00000256078,;KRAS,missense_variant,p.Arg68Met,ENST00000311936,;KRAS,intron_variant,,ENST00000557334,;AC087239.1,upstream_gene_variant,,ENST00000594112,;	267	127	134	SUCCESS
SYT16	83851	.	GRCh37	14	62547559	62547559	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776037610	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	36	191	0	ENST00000430451.2:c.1001A>G	p.Asp334Gly	p.D334G	ENST00000430451	NM_031914.2	334	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45121.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGACAGGA	NONE	byFrequency	.	hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024	.	.	ENSP00000394700	.	4/6	.	.	.	.	.	.	.	.	rs776037610	4/6	PASS	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.06)	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,missense_variant,p.Thr364Ala,ENST00000446982,;SYT16,missense_variant,p.Asp334Gly,ENST00000430451,;RP11-355I22.5,intron_variant,,ENST00000553990,;SYT16,missense_variant,p.Thr364Ala,ENST00000555409,;	1198	191	143	SUCCESS
UNC79	57578	.	GRCh37	14	94038399	94038399	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	56	0	ENST00000393151.2:c.1915A>T	p.Asn639Tyr	p.N639Y	ENST00000393151		639	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS9911.2	1384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATAATCAG	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696,Pfam_domain:PF14776	.	.	ENSP00000256339	.	15/50	.	.	.	.	.	.	.	.	.	15/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.1)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Asn639Tyr,ENST00000393151,;UNC79,missense_variant,p.Asn462Tyr,ENST00000256339,;UNC79,missense_variant,p.Asn639Tyr,ENST00000553484,;UNC79,missense_variant,p.Asn639Tyr,ENST00000555664,;	2039	56	39	SUCCESS
PIGQ	9091	.	GRCh37	16	633549	633549	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs750067878	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	23	89	0	ENST00000026218.5:c.2202del	p.Val735SerfsTer34	p.V735Sfs*34	ENST00000026218	NM_148920.2	733	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS10411.1	2198	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCTGACCCCCG	NONE	byFrequency	.	.	.	.	ENSP00000026218	.	10/10	.	.	.	.	.	.	.	.	rs750067878,rs766848991	10/10	PASS	ENST00000026218	Transcript	.	.	ENSG00000007541	14135	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIGQ_HUMAN	PIGQ	HGNC	J3QTH6_HUMAN,B8ZZC7_HUMAN,B8ZZ31_HUMAN,B8ZZ29_HUMAN	.	UPI000006CC88	deletion	PIGQ,frameshift_variant,p.Val735SerfsTer34,ENST00000026218,;PIGQ,3_prime_UTR_variant,,ENST00000321878,;PIGQ,downstream_gene_variant,,ENST00000409527,;PIGQ,downstream_gene_variant,,ENST00000540241,;PIGQ,downstream_gene_variant,,ENST00000544860,;PIGQ,downstream_gene_variant,,ENST00000540548,;PIGQ,non_coding_transcript_exon_variant,,ENST00000476438,;PIGQ,non_coding_transcript_exon_variant,,ENST00000480424,;PIGQ,downstream_gene_variant,,ENST00000420990,;PIGQ,downstream_gene_variant,,ENST00000443147,;PIGQ,downstream_gene_variant,,ENST00000537901,;	2286	89	118	SUCCESS
PTPRM	5797	.	GRCh37	18	7888162	7888162	+	synonymous_variant	Silent	SNP	C	C	T	rs1335866468	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	33	168	0	ENST00000332175.8:c.255C>T	p.Leu85=	p.L85=	ENST00000332175	NM_002845.3	85	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58613.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCTTACC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_patterns:PS00740,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50060	.	.	ENSP00000463325	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,synonymous_variant,p.%3D,ENST00000332175,;PTPRM,synonymous_variant,p.%3D,ENST00000400053,;PTPRM,synonymous_variant,p.%3D,ENST00000400060,;PTPRM,synonymous_variant,p.%3D,ENST00000580170,;	1292	168	136	SUCCESS
ZNF585A	199704	.	GRCh37	19	37643714	37643714	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	40	169	0	ENST00000292841.5:c.922T>G	p.Phe308Val	p.F308V	ENST00000292841	NM_152655.2	308	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS12499.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAAAGGCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000292841	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292841	Transcript	.	.	ENSG00000196967	26305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	Z585A_HUMAN	ZNF585A	HGNC	.	.	UPI000007213F	SNV	ZNF585A,missense_variant,p.Phe308Val,ENST00000292841,;ZNF585A,missense_variant,p.Phe308Val,ENST00000355533,;ZNF585A,missense_variant,p.Phe308Val,ENST00000392157,;ZNF585A,missense_variant,p.Phe363Val,ENST00000356958,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	1420	169	186	SUCCESS
MAP3K10	4294	.	GRCh37	19	40698304	40698304	+	synonymous_variant	Silent	SNP	G	G	A	rs1568485648	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	33	0	ENST00000253055.3:c.366G>A	p.Val122=	p.V122=	ENST00000253055	NM_002446.3	122	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12549.1	366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGGCAGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370,PROSITE_patterns:PS00107,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Superfamily_domains:SSF56112	.	.	ENSP00000253055	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000253055	Transcript	.	.	ENSG00000130758	6849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K10_HUMAN	MAP3K10	HGNC	.	.	UPI000013CDAC	SNV	MAP3K10,synonymous_variant,p.%3D,ENST00000253055,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000593906,;	654	33	26	SUCCESS
ZNF841	284371	.	GRCh37	19	52569235	52569235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	18	179	0	ENST00000426391.2:c.1552T>A	p.Phe518Ile	p.F518I	ENST00000426391		518	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS46161.1	1900	MUTECT|MUSE|VARSCANS	.	ACTGAAGACCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,missense_variant,p.Phe634Ile,ENST00000389534,;ZNF841,missense_variant,p.Phe518Ile,ENST00000426391,;ZNF841,missense_variant,p.Phe634Ile,ENST00000594295,;ZNF841,intron_variant,,ENST00000601738,;ZNF841,intron_variant,,ENST00000359973,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	2360	179	195	SUCCESS
ZNF83	55769	.	GRCh37	19	53117500	53117500	+	synonymous_variant	Silent	SNP	T	T	C	rs778584351	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	25	195	0	ENST00000301096.3:c.318A>G	p.Leu106=	p.L106=	ENST00000301096	NM_018300.3	106	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12854.1	318	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTAAGCC	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472619	.	2/2	.	.	.	.	.	.	.	.	rs778584351	2/2	PASS	ENST00000597597	Transcript	.	.	ENSG00000167766	13158	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZNF83_HUMAN	ZNF83	HGNC	H9XFB5_HUMAN	.	UPI000013E6CF	SNV	ZNF83,synonymous_variant,p.%3D,ENST00000301096,;ZNF83,synonymous_variant,p.%3D,ENST00000597597,;ZNF83,synonymous_variant,p.%3D,ENST00000541777,;ZNF83,synonymous_variant,p.%3D,ENST00000536937,;ZNF83,synonymous_variant,p.%3D,ENST00000391789,;ZNF83,synonymous_variant,p.%3D,ENST00000544146,;ZNF83,synonymous_variant,p.%3D,ENST00000545872,;ZNF83,3_prime_UTR_variant,,ENST00000594682,;ZNF83,intron_variant,,ENST00000601257,;ZNF83,intron_variant,,ENST00000600714,;ZNF83,downstream_gene_variant,,ENST00000598536,;ZNF83,downstream_gene_variant,,ENST00000597161,;ZNF83,downstream_gene_variant,,ENST00000596930,;ZNF83,downstream_gene_variant,,ENST00000595171,;ZNF83,downstream_gene_variant,,ENST00000596440,;ZNF83,downstream_gene_variant,,ENST00000601140,;ZNF83,downstream_gene_variant,,ENST00000595939,;ZNF83,downstream_gene_variant,,ENST00000601237,;ZNF83,downstream_gene_variant,,ENST00000602232,;	2572	195	200	SUCCESS
ZNF426	79088	.	GRCh37	19	9643591	9643591	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	87	0	ENST00000253115.2:c.255C>G	p.Ile85Met	p.I85M	ENST00000253115	NM_024106.1	85	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS12215.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGATCTG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF85,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000439017	.	4/6	.	.	.	.	.	.	.	.	COSM1398304	4/6	PASS	ENST00000535489	Transcript	.	.	ENSG00000130818	20725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.025)	.	deleterious(0.03)	1	ZN426_HUMAN	ZNF426	HGNC	.	.	UPI0000072122	SNV	ZNF426,missense_variant,p.Ile85Met,ENST00000535489,;ZNF426,missense_variant,p.Ile85Met,ENST00000253115,;ZNF426,missense_variant,p.Ile85Met,ENST00000589289,;ZNF426,missense_variant,p.Ile47Met,ENST00000593003,;	592	87	89	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150532541	150532541	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761830077	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	42	169	0	ENST00000271643.4:c.3094C>A	p.Gln1032Lys	p.Q1032K	ENST00000271643	NM_019032.4	1032	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS955.1	3094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCAATGC	NONE	.	.	PROSITE_profiles:PS50900,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF08686	.	.	ENSP00000271643	.	19/19	.	.	.	.	.	.	.	.	rs761830077	19/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.1)	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,missense_variant,p.Gln1032Lys,ENST00000271643,;ADAMTSL4,missense_variant,p.Gln1032Lys,ENST00000369038,;ADAMTSL4,missense_variant,p.Gln1055Lys,ENST00000369039,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;	3330	169	174	SUCCESS
SLC35F3	148641	.	GRCh37	1	234041461	234041461	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	65	210	0	ENST00000366618.3:c.240C>T	p.Ile80=	p.I80=	ENST00000366618	NM_173508.2	80	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1600.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCATCACTGG	NONE	.	.	hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF3	.	.	ENSP00000355577	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000366618	Transcript	.	.	ENSG00000183780	23616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35F3_HUMAN	SLC35F3	HGNC	.	.	UPI000006DD13	SNV	SLC35F3,synonymous_variant,p.%3D,ENST00000366618,;	385	210	255	SUCCESS
ACOT11	26027	.	GRCh37	1	55013964	55013964	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	42	236	0	ENST00000371316.3:c.-19T>C		p.*7*	ENST00000371316	NM_015547.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS592.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTTCCCCG	NONE	.	.	.	.	.	ENSP00000360366	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000371316	Transcript	.	.	ENSG00000162390	18156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACO11_HUMAN	ACOT11	HGNC	.	.	UPI0000136D55	SNV	ACOT11,5_prime_UTR_variant,,ENST00000371316,;ACOT11,5_prime_UTR_variant,,ENST00000343744,;ACOT11,non_coding_transcript_exon_variant,,ENST00000498228,;ACOT11,intron_variant,,ENST00000481208,;	64	236	237	SUCCESS
ATP5E	0	.	GRCh37	20	57607328	57607328	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	63	0	ENST00000243997.3:c.-22C>G		p.*8*	ENST00000243997	NM_006886.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13476.1	.	RADIA|MUSE	.	AGCTCGTCGGG	NONE	.	.	.	.	.	ENSP00000243997	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000243997	Transcript	1	.	ENSG00000124172	838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATP5E_HUMAN	ATP5E	HGNC	.	.	UPI000013CB4F	SNV	ATP5E,5_prime_UTR_variant,,ENST00000395663,;ATP5E,5_prime_UTR_variant,,ENST00000395659,;ATP5E,5_prime_UTR_variant,,ENST00000243997,;SLMO2,downstream_gene_variant,,ENST00000355937,;SLMO2,downstream_gene_variant,,ENST00000371033,;SLMO2,downstream_gene_variant,,ENST00000463057,;	110	63	40	SUCCESS
SCN3A	6328	.	GRCh37	2	165946841	165946841	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	229	76	246	0	ENST00000360093.3:c.5822A>G	p.Lys1941Arg	p.K1941R	ENST00000360093	NM_001081677.1	1941	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33312.1	5822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTTTTATA	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037	.	.	ENSP00000283254	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	tolerated(0.12)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Lys1941Arg,ENST00000360093,;SCN3A,missense_variant,p.Lys1941Arg,ENST00000283254,;SCN3A,missense_variant,p.Lys424Arg,ENST00000540861,;SCN3A,missense_variant,p.Lys1892Arg,ENST00000409101,;AC013463.2,intron_variant,,ENST00000431341,;SCN3A,downstream_gene_variant,,ENST00000465043,;	6290	246	306	SUCCESS
NEUROD1	4760	.	GRCh37	2	182542873	182542885	+	frameshift_variant	Frame_Shift_Del	DEL	CATGGGAGCTGTC	CATGGGAGCTGTC	-	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	CATGGGAGCTGTC	CATGGGAGCTGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	124	0	ENST00000295108.3:c.703_715del	p.Asp235SerfsTer23	p.D235Sfs*23	ENST00000295108	NM_002500.4	235	GACAGCTCCCATGtc/tc	0	.	.	.	.	.	-	DSSHV/X	protein_coding	YES	CCDS2283.1	703-715	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAAGACATGGGAGCTGTCCATGG	NONE	.	.	hmmpanther:PTHR19290:SF88,hmmpanther:PTHR19290,Pfam_domain:PF12533,PIRSF_domain:PIRSF015618	.	.	ENSP00000295108	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295108	Transcript	.	.	ENSG00000162992	7762	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDF1_HUMAN	NEUROD1	HGNC	.	.	UPI000013E207	deletion	NEUROD1,frameshift_variant,p.Asp235SerfsTer23,ENST00000295108,;AC013733.3,upstream_gene_variant,,ENST00000440371,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;CERKL,intron_variant,,ENST00000479558,;	1161-1173	124	99	SUCCESS
MYT1L	23040	.	GRCh37	2	1915796	1915796	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	122	0	ENST00000399161.2:c.1705C>G	p.Arg569Gly	p.R569G	ENST00000399161	NM_015025.2	569	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46222.1	1699	MUTECT|MUSE	.	CCTTCGGTGGG	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000396103	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Arg569Gly,ENST00000399161,;MYT1L,missense_variant,p.Arg567Gly,ENST00000428368,;MYT1L,missense_variant,p.Arg223Gly,ENST00000602387,;MYT1L,non_coding_transcript_exon_variant,,ENST00000485547,;	2369	122	89	SUCCESS
CASP8	841	.	GRCh37	2	202131436	202131437	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AG	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	138	28	137	0	ENST00000358485.4:c.404_405insAG	p.Thr136ValfsTer4	p.T136Vfs*4	ENST00000358485	NM_001080125.1	135	att/atAGt	0	.	.	.	.	.	AG	I/IX	protein_coding	YES	CCDS42798.1	404-405	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGATTACCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50168,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF141,Pfam_domain:PF01335,Gene3D:1.10.533.10,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000351273	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000358485	Transcript	.	.	ENSG00000064012	1509	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASP8_HUMAN	CASP8	HGNC	E7EVN1_HUMAN,E7ETB7_HUMAN,E7EQ01_HUMAN	.	UPI0000456ECD	insertion	CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000392266,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000323492,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000264275,;CASP8,frameshift_variant,p.Thr136ValfsTer4,ENST00000358485,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000447616,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000429881,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000440732,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000392259,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000413726,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000392258,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000392263,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000432109,;CASP8,frameshift_variant,p.Thr77ValfsTer4,ENST00000264274,;CASP8,intron_variant,,ENST00000450491,;CASP8,intron_variant,,ENST00000490412,;CASP8,3_prime_UTR_variant,,ENST00000437283,;CASP8,non_coding_transcript_exon_variant,,ENST00000471383,;CASP8,non_coding_transcript_exon_variant,,ENST00000339403,;	600-601	137	166	SUCCESS
CPS1	1373	.	GRCh37	2	211507320	211507322	+	inframe_deletion	In_Frame_Del	DEL	TGA	TGA	-	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	TGA	TGA	.	.	.	.	.	.	.	.	.	.	.	.	.	254	27	349	0	ENST00000233072.5:c.3075_3077del	p.Asp1025del	p.D1025del	ENST00000233072	NM_001875.4	1024	ttTGAt/ttt	0	.	.	.	.	.	-	FD/F	protein_coding	YES	CCDS46505.1	3090-3092	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTTTGATGAGT	NONE	.	.	hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Pfam_domain:PF00289,Gene3D:3.40.50.20,Superfamily_domains:SSF52440	.	.	ENSP00000402608	.	26/39	.	.	.	.	.	.	.	.	.	26/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	deletion	CPS1,inframe_deletion,p.Asp1031del,ENST00000430249,;CPS1,inframe_deletion,p.Asp1025del,ENST00000233072,;CPS1,inframe_deletion,p.Asp574del,ENST00000451903,;CPS1,non_coding_transcript_exon_variant,,ENST00000497121,;	3145-3147	349	281	SUCCESS
UGT1A3	54659	.	GRCh37	2	234638003	234638003	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	42	202	1	ENST00000482026.1:c.231G>T	p.Leu77=	p.L77=	ENST00000482026		77	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2509.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGACAAC	NONE	.	.	hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000418532	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000482026	Transcript	.	.	ENSG00000243135	12535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD13_HUMAN	UGT1A3	HGNC	Q8WX91_HUMAN,A9UKC8_HUMAN,A7E1U5_HUMAN,Q5DT01_HUMAN	.	UPI0000001045	SNV	UGT1A3,synonymous_variant,p.%3D,ENST00000482026,;UGT1A8,synonymous_variant,p.%3D,ENST00000609767,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A4,intron_variant,,ENST00000373409,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000484784,;	250	203	207	SUCCESS
RBKS	64080	.	GRCh37	2	28113223	28113223	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs761807527	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	52	0	ENST00000302188.3:c.-11A>G		p.*4*	ENST00000302188	NM_022128.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1762.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTGCTGC	NONE	.	.	.	.	.	ENSP00000306817	.	1/8	.	.	.	.	.	.	.	.	rs761807527	1/8	PASS	ENST00000302188	Transcript	.	.	ENSG00000171174	30325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBSK_HUMAN	RBKS	HGNC	Q53SD1_HUMAN	.	UPI000003B021	SNV	RBKS,5_prime_UTR_variant,,ENST00000302188,;BRE,intron_variant,,ENST00000436924,;BRE,upstream_gene_variant,,ENST00000344773,;RBKS,upstream_gene_variant,,ENST00000444339,;BRE,upstream_gene_variant,,ENST00000361704,;BRE,upstream_gene_variant,,ENST00000379632,;BRE,upstream_gene_variant,,ENST00000342045,;BRE,upstream_gene_variant,,ENST00000379629,;BRE,upstream_gene_variant,,ENST00000379624,;BRE,upstream_gene_variant,,ENST00000603461,;RBKS,5_prime_UTR_variant,,ENST00000453412,;RBKS,5_prime_UTR_variant,,ENST00000449378,;MRPL33,intron_variant,,ENST00000448427,;BRE,upstream_gene_variant,,ENST00000604932,;BRE,upstream_gene_variant,,ENST00000496951,;BRE,upstream_gene_variant,,ENST00000492702,;	743	52	45	SUCCESS
ANKRD36	375248	.	GRCh37	2	97873573	97873573	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	56	0	ENST00000420699.2:c.3189G>C	p.Leu1063Phe	p.L1063F	ENST00000420699	NM_001164315.1	1063	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS54379.1	3189	MUTECT|VARSCANS	.	GGCTTGAAGGT	NONE	.	.	hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1	.	.	ENSP00000391950	.	53/76	.	.	.	.	.	.	.	.	.	53/76	PASS	ENST00000420699	Transcript	.	.	ENSG00000135976	24079	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.27)	.	AN36A_HUMAN	ANKRD36	HGNC	.	.	UPI0001B23BB4	SNV	ANKRD36,missense_variant,p.Leu1063Phe,ENST00000461153,;ANKRD36,missense_variant,p.Leu1063Phe,ENST00000420699,;ANKRD36,upstream_gene_variant,,ENST00000421946,;	3433	56	38	SUCCESS
MYH15	22989	.	GRCh37	3	108203986	108203986	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	34	155	0	ENST00000273353.3:c.1126T>C	p.Phe376Leu	p.F376L	ENST00000273353	NM_014981.1	376	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS43127.1	1126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAATTTCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000273353	.	12/42	.	.	.	.	.	.	.	.	.	12/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Phe376Leu,ENST00000273353,;	1183	155	138	SUCCESS
ECE2	9718	.	GRCh37	3	184002776	184002810	+	frameshift_variant	Frame_Shift_Del	DEL	TTGAGTTCCTGTCTTTCTTGCTGTCACCATTGGAG	TTGAGTTCCTGTCTTTCTTGCTGTCACCATTGGAG	-	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	TTGAGTTCCTGTCTTTCTTGCTGTCACCATTGGAG	TTGAGTTCCTGTCTTTCTTGCTGTCACCATTGGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	276	42	434	0	ENST00000402825.3:c.1391_1425del	p.Phe464Ter	p.F464*	ENST00000402825	NM_014693.3	462	cTTGAGTTCCTGTCTTTCTTGCTGTCACCATTGGAG/c	0	.	.	.	.	.	-	LEFLSFLLSPLE/X	protein_coding	YES	CCDS3256.2	1385-1419	INDELOCATOR*|PINDEL	.	ACTGGCTTGAGTTCCTGTCTTTCTTGCTGTCACCATTGGAGTTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Pfam_domain:PF05649,Superfamily_domains:SSF55486	.	.	ENSP00000384223	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	deletion	ECE2,frameshift_variant,p.Phe338Ter,ENST00000430587,;ECE2,frameshift_variant,p.Phe317Ter,ENST00000359140,;ECE2,frameshift_variant,p.Phe392Ter,ENST00000357474,;ECE2,frameshift_variant,p.Phe346Ter,ENST00000404464,;ECE2,frameshift_variant,p.Phe464Ter,ENST00000402825,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,non_coding_transcript_exon_variant,,ENST00000488401,;ECE2,non_coding_transcript_exon_variant,,ENST00000490579,;	1385-1419	434	318	SUCCESS
HES1	3280	.	GRCh37	3	193854156	193854156	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs781217427	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	30	0	ENST00000232424.3:c.-14A>C		p.*5*	ENST00000232424	NM_005524.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3305.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAAAAAAA	NONE	.	.	.	.	.	ENSP00000232424	.	1/4	.	.	.	.	.	.	.	.	rs781217427	1/4	PASS	ENST00000232424	Transcript	.	.	ENSG00000114315	5192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HES1_HUMAN	HES1	HGNC	Q8IXV0_HUMAN	.	UPI0000037B01	SNV	HES1,5_prime_UTR_variant,,ENST00000232424,;HES1,non_coding_transcript_exon_variant,,ENST00000476918,;	223	30	45	SUCCESS
FEZF2	55079	.	GRCh37	3	62356899	62356899	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	16	164	0	ENST00000283268.3:c.1113C>A	p.His371Gln	p.H371Q	ENST00000283268	NM_018008.3	371	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS2897.1	1113	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGTGAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000283268	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	deleterious(0)	.	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,missense_variant,p.His371Gln,ENST00000283268,;FEZF2,missense_variant,p.His371Gln,ENST00000475839,;FEZF2,missense_variant,p.His371Gln,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	1408	164	119	SUCCESS
AFF1	4299	.	GRCh37	4	88012960	88012963	+	frameshift_variant	Frame_Shift_Del	DEL	AGTT	AGTT	-	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	AGTT	AGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	116	0	ENST00000307808.6:c.1186_1189del	p.Ser396LeufsTer2	p.S396Lfs*2	ENST00000307808	NM_005935.2	396	AGTTct/ct	0	.	.	.	.	.	-	SS/X	protein_coding	YES	CCDS54775.1	1207-1210	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGTCAGTTCTGTA	NONE	.	.	hmmpanther:PTHR10528:SF14,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000378578	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000395146	Transcript	1	.	ENSG00000172493	7135	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AFF1_HUMAN	AFF1	HGNC	Q712L1_HUMAN,F5GXF9_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN	.	UPI000013EC52	deletion	AFF1,frameshift_variant,p.Ser374LeufsTer2,ENST00000503477,;AFF1,frameshift_variant,p.Ser87LeufsTer2,ENST00000514970,;AFF1,frameshift_variant,p.Ser396LeufsTer2,ENST00000307808,;AFF1,frameshift_variant,p.Ser403LeufsTer2,ENST00000395146,;AFF1,frameshift_variant,p.Ser34LeufsTer2,ENST00000511722,;AFF1,frameshift_variant,p.Ser34LeufsTer2,ENST00000544085,;AFF1,frameshift_variant,p.Ser402LeufsTer2,ENST00000507468,;	1482-1485	116	109	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	161903	161903	+	synonymous_variant	Silent	SNP	C	C	T	rs868672086	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	116	0	ENST00000283426.6:c.1425C>T	p.Ser475=	p.S475=	ENST00000283426	NM_052909.3	475	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34124.1	1425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCCTGCCA	NONE	.	.	hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	.	.	ENSP00000283426	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,synonymous_variant,p.%3D,ENST00000283426,;PLEKHG4B,downstream_gene_variant,,ENST00000502646,;	1475	116	101	SUCCESS
MGAT4B	11282	.	GRCh37	5	179226059	179226059	+	synonymous_variant	Silent	SNP	G	G	A	rs1196768513	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	286	35	304	0	ENST00000292591.7:c.1212C>T	p.Ser404=	p.S404=	ENST00000292591	NM_014275.4	404	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4449.1	1257	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGCTCAC	NONE	.	.	hmmpanther:PTHR12062:SF1,hmmpanther:PTHR12062	.	.	ENSP00000338487	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000337755	Transcript	.	.	ENSG00000161013	7048	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGT4B_HUMAN	MGAT4B	HGNC	E5RFS3_HUMAN	.	UPI000015F50B	SNV	MGAT4B,missense_variant,p.His273Tyr,ENST00000519836,;MGAT4B,missense_variant,p.His151Tyr,ENST00000518980,;MGAT4B,synonymous_variant,p.%3D,ENST00000520875,;MGAT4B,synonymous_variant,p.%3D,ENST00000518778,;MGAT4B,synonymous_variant,p.%3D,ENST00000292591,;MGAT4B,synonymous_variant,p.%3D,ENST00000520969,;MGAT4B,synonymous_variant,p.%3D,ENST00000337755,;MGAT4B,splice_region_variant,,ENST00000518867,;LTC4S,downstream_gene_variant,,ENST00000401985,;LTC4S,downstream_gene_variant,,ENST00000292596,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,upstream_gene_variant,,ENST00000408467,;MGAT4B,splice_region_variant,,ENST00000523382,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000519616,;MAML1,downstream_gene_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,downstream_gene_variant,,ENST00000520134,;MGAT4B,downstream_gene_variant,,ENST00000518168,;LTC4S,downstream_gene_variant,,ENST00000505170,;MGAT4B,downstream_gene_variant,,ENST00000523329,;MGAT4B,downstream_gene_variant,,ENST00000521855,;LTC4S,downstream_gene_variant,,ENST00000465572,;MGAT4B,downstream_gene_variant,,ENST00000520918,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000520822,;LTC4S,downstream_gene_variant,,ENST00000486713,;MGAT4B,downstream_gene_variant,,ENST00000518702,;LTC4S,downstream_gene_variant,,ENST00000509898,;MGAT4B,upstream_gene_variant,,ENST00000522451,;	2144	304	321	SUCCESS
ITGA1	3672	.	GRCh37	5	52193327	52193327	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	86	0	ENST00000282588.6:c.1132T>C	p.Ser378Pro	p.S378P	ENST00000282588	NM_181501.1	378	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3955.1	1132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTCTCAG	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000282588	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000282588	Transcript	.	.	ENSG00000213949	6134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious(0.01)	.	ITA1_HUMAN	ITGA1	HGNC	.	.	UPI00001A95E8	SNV	ITGA1,missense_variant,p.Ser378Pro,ENST00000282588,;ITGA1,upstream_gene_variant,,ENST00000504669,;	1590	86	78	SUCCESS
ANKRD32	0	.	GRCh37	5	94001726	94001726	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	39	0	ENST00000265140.5:c.1529T>G	p.Ile510Ser	p.I510S	ENST00000265140	NM_032290.3	510	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS4071.2	1529	MUTECT|MUSE	.	CCTTATCAGGT	NONE	.	.	hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22	.	.	ENSP00000265140	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000265140	Transcript	.	.	ENSG00000133302	25408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.488)	.	deleterious(0)	.	ANR32_HUMAN	ANKRD32	HGNC	I6L9F1_HUMAN,D6RED9_HUMAN	.	UPI000066D9F9	SNV	ANKRD32,missense_variant,p.Ile510Ser,ENST00000265140,;ANKRD32,downstream_gene_variant,,ENST00000466957,;	1948	39	53	SUCCESS
HIST1H2AG	0	.	GRCh37	6	27100892	27100892	+	synonymous_variant	Silent	SNP	G	G	A	rs201354380	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	80	0	ENST00000359193.2:c.42G>A	p.Lys14=	p.K14=	ENST00000359193	NM_021064.4	14	aaG/aaA	0	.	A:0.0008	.	A:0	.	A	K	protein_coding	YES	CCDS4619.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	GCTAAGGCCAA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	A:0	.	ENSP00000352119	A:0	1/1	.	.	.	.	.	.	.	.	rs201354380	1/1	PASS	ENST00000359193	Transcript	.	A:0.0002	ENSG00000196787	4737	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	H2A1_HUMAN	HIST1H2AG	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AG,synonymous_variant,p.%3D,ENST00000359193,;HIST1H2BJ,upstream_gene_variant,,ENST00000541790,;HIST1H2BJ,upstream_gene_variant,,ENST00000339812,;HIST1H2BJ,upstream_gene_variant,,ENST00000607124,;HIST1H2BJ,upstream_gene_variant,,ENST00000606923,;	61	80	58	SUCCESS
BAG6	7917	.	GRCh37	6	31610883	31610883	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	14	0	ENST00000375964.6:c.1676C>T	p.Thr559Ile	p.T559I	ENST00000375964	NM_004639.3	559	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS47403.1	1676	RADIA|MUTECT|MUSE	.	CTGGGGTCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15204	.	.	ENSP00000365131	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000375964	Transcript	.	.	ENSG00000204463	13919	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	tolerated(0.11)	.	BAG6_HUMAN	BAG6	HGNC	F6TC96_HUMAN,F6RG75_HUMAN	.	UPI000047029D	SNV	BAG6,missense_variant,p.Thr553Ile,ENST00000375976,;BAG6,missense_variant,p.Thr553Ile,ENST00000362049,;BAG6,missense_variant,p.Thr589Ile,ENST00000437771,;BAG6,missense_variant,p.Thr559Ile,ENST00000375964,;BAG6,missense_variant,p.Thr553Ile,ENST00000211379,;BAG6,missense_variant,p.Thr589Ile,ENST00000404765,;BAG6,missense_variant,p.Thr552Ile,ENST00000439687,;BAG6,missense_variant,p.Thr147Ile,ENST00000438149,;BAG6,downstream_gene_variant,,ENST00000424176,;BAG6,downstream_gene_variant,,ENST00000435080,;BAG6,downstream_gene_variant,,ENST00000441054,;BAG6,downstream_gene_variant,,ENST00000452994,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000451898,;BAG6,downstream_gene_variant,,ENST00000428326,;BAG6,downstream_gene_variant,,ENST00000453833,;BAG6,downstream_gene_variant,,ENST00000456622,;BAG6,upstream_gene_variant,,ENST00000422948,;BAG6,downstream_gene_variant,,ENST00000434444,;BAG6,downstream_gene_variant,,ENST00000456286,;BAG6,downstream_gene_variant,,ENST00000424480,;BAG6,downstream_gene_variant,,ENST00000433828,;BAG6,non_coding_transcript_exon_variant,,ENST00000469182,;BAG6,non_coding_transcript_exon_variant,,ENST00000470875,;BAG6,non_coding_transcript_exon_variant,,ENST00000465348,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,downstream_gene_variant,,ENST00000462682,;BAG6,upstream_gene_variant,,ENST00000462875,;	1990	14	10	SUCCESS
SAMD9	54809	.	GRCh37	7	92734353	92734353	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138478808	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	89	0	ENST00000379958.2:c.1058C>T	p.Thr353Met	p.T353M	ENST00000379958	NM_017654.3	353	aCg/aTg	0	A:0.0005	.	.	.	.	A	T/M	protein_coding	YES	CCDS34680.1	1058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCGTAATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	A:0.0002	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	rs138478808,COSM1452881	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.33)	0,1	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Thr353Met,ENST00000446617,;SAMD9,missense_variant,p.Thr353Met,ENST00000379958,;	1328	89	65	SUCCESS
FPGS	2356	.	GRCh37	9	130569921	130569921	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	89	1	ENST00000373247.2:c.698G>T	p.Gly233Val	p.G233V	ENST00000373247	NM_004957.4	233	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS35148.1	698	MUTECT|MUSE	.	CCTGGGGGATA	NONE	.	.	hmmpanther:PTHR11136,hmmpanther:PTHR11136:SF5,Gene3D:3.40.1190.10,TIGRFAM_domain:TIGR01499,PIRSF_domain:PIRSF038895,Superfamily_domains:SSF53623	.	.	ENSP00000362344	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000373247	Transcript	.	.	ENSG00000136877	3824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FOLC_HUMAN	FPGS	HGNC	.	.	UPI000012AB4D	SNV	FPGS,missense_variant,p.Gly157Val,ENST00000423577,;FPGS,missense_variant,p.Gly233Val,ENST00000373247,;FPGS,missense_variant,p.Gly183Val,ENST00000431857,;FPGS,missense_variant,p.Gly233Val,ENST00000373228,;FPGS,missense_variant,p.Gly233Val,ENST00000373245,;FPGS,missense_variant,p.Gly183Val,ENST00000373225,;FPGS,missense_variant,p.Gly207Val,ENST00000393706,;FPGS,non_coding_transcript_exon_variant,,ENST00000479147,;FPGS,non_coding_transcript_exon_variant,,ENST00000460181,;FPGS,non_coding_transcript_exon_variant,,ENST00000497386,;FPGS,non_coding_transcript_exon_variant,,ENST00000488307,;FPGS,non_coding_transcript_exon_variant,,ENST00000475765,;FPGS,non_coding_transcript_exon_variant,,ENST00000481552,;FPGS,non_coding_transcript_exon_variant,,ENST00000479375,;FPGS,upstream_gene_variant,,ENST00000473536,;FPGS,upstream_gene_variant,,ENST00000488506,;FPGS,upstream_gene_variant,,ENST00000475270,;FPGS,downstream_gene_variant,,ENST00000496586,;FPGS,downstream_gene_variant,,ENST00000469310,;FPGS,upstream_gene_variant,,ENST00000489522,;FPGS,upstream_gene_variant,,ENST00000467826,;	748	90	64	SUCCESS
FOCAD	54914	.	GRCh37	9	20740268	20740268	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	46	206	0	ENST00000338382.6:c.321C>T	p.His107=	p.H107=	ENST00000338382		107	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS34993.1	321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCACTTACT	NONE	.	.	Pfam_domain:PF12530,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4	.	.	ENSP00000369599	.	7/46	.	.	.	.	.	.	.	.	.	7/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,synonymous_variant,p.%3D,ENST00000380249,;FOCAD,synonymous_variant,p.%3D,ENST00000338382,;FOCAD,non_coding_transcript_exon_variant,,ENST00000604103,;FOCAD,non_coding_transcript_exon_variant,,ENST00000605031,;	685	206	199	SUCCESS
ACAT1	38	.	GRCh37	11	108010844	108010844	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	117	0	ENST00000265838.4:c.632A>G	p.Gln211Arg	p.Q211R	ENST00000265838	NM_000019.3	211	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS8339.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAGGACG	NONE	.	.	Superfamily_domains:SSF53901,PIRSF_domain:PIRSF000429,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,Gene3D:3.40.47.10,hmmpanther:PTHR18919:SF79,hmmpanther:PTHR18919	.	.	ENSP00000265838	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000265838	Transcript	.	.	ENSG00000075239	93	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	THIL_HUMAN	ACAT1	HGNC	E9PKF3_HUMAN	.	UPI0000136E41	SNV	ACAT1,missense_variant,p.Gln211Arg,ENST00000265838,;ACAT1,downstream_gene_variant,,ENST00000528370,;ACAT1,downstream_gene_variant,,ENST00000299355,;ACAT1,downstream_gene_variant,,ENST00000527942,;ACAT1,3_prime_UTR_variant,,ENST00000531813,;ACAT1,non_coding_transcript_exon_variant,,ENST00000534773,;ACAT1,non_coding_transcript_exon_variant,,ENST00000533610,;ACAT1,non_coding_transcript_exon_variant,,ENST00000532792,;	723	117	94	SUCCESS
HMBS	3145	.	GRCh37	11	118955777	118955777	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1565750784	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	114	0	ENST00000278715.3:c.33+1G>A		p.X11_splice	ENST00000278715	NM_000190.3	11		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8409.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGGTGAGT	NONE	.	.	.	.	.	ENSP00000278715	.	.	.	.	.	.	.	.	.	.	CS890127,CS003342	.	PASS	ENST00000278715	Transcript	.	.	ENSG00000256269	4982	.	.	HIGH	1/13	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	HEM3_HUMAN	HMBS	HGNC	Q68Y91_HUMAN,Q0G847_HUMAN,F5GY90_HUMAN,B5U9V4_HUMAN	.	UPI000012C47A	SNV	HMBS,splice_donor_variant,,ENST00000536813,;HMBS,splice_donor_variant,,ENST00000543090,;HMBS,splice_donor_variant,,ENST00000278715,;HMBS,splice_donor_variant,,ENST00000544387,;HMBS,splice_donor_variant,,ENST00000546302,;HMBS,splice_donor_variant,,ENST00000442944,;HMBS,5_prime_UTR_variant,,ENST00000542729,;HMBS,5_prime_UTR_variant,,ENST00000537841,;HMBS,upstream_gene_variant,,ENST00000539986,;HMBS,upstream_gene_variant,,ENST00000535253,;VPS11,downstream_gene_variant,,ENST00000300793,;HMBS,upstream_gene_variant,,ENST00000392841,;HMBS,splice_donor_variant,,ENST00000536185,;VPS11,downstream_gene_variant,,ENST00000527798,;VPS11,downstream_gene_variant,,ENST00000531528,;HMBS,upstream_gene_variant,,ENST00000534956,;VPS11,downstream_gene_variant,,ENST00000524454,;HMBS,splice_donor_variant,,ENST00000535793,;HMBS,splice_donor_variant,,ENST00000543821,;HMBS,splice_donor_variant,,ENST00000542044,;HMBS,splice_donor_variant,,ENST00000545901,;HMBS,splice_donor_variant,,ENST00000545621,;HMBS,missense_variant,p.Val12Met,ENST00000542822,;HMBS,upstream_gene_variant,,ENST00000542345,;HMBS,upstream_gene_variant,,ENST00000544360,;HMBS,upstream_gene_variant,,ENST00000543543,;HMBS,upstream_gene_variant,,ENST00000546226,;VPS11,downstream_gene_variant,,ENST00000529838,;	.	114	95	SUCCESS
OR8H1	219469	.	GRCh37	11	56058048	56058048	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	52	145	0	ENST00000313022.2:c.491G>A	p.Arg164Lys	p.R164K	ENST00000313022	NM_001005199.1	164	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS31526.1	491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTCTGCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313022	Transcript	.	.	ENSG00000181693	14824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.16)	.	OR8H1_HUMAN	OR8H1	HGNC	.	.	UPI0000041BC0	SNV	OR8H1,missense_variant,p.Arg164Lys,ENST00000313022,;	519	145	245	SUCCESS
DNHD1	144132	.	GRCh37	11	6588587	6588587	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	23	122	0	ENST00000254579.6:c.11848T>A	p.Ser3950Thr	p.S3950T	ENST00000254579	NM_144666.2	3950	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS44532.1	11848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCATCAGAG	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	36/43	.	.	.	.	.	.	.	.	.	36/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Ser3950Thr,ENST00000254579,;DNHD1,missense_variant,p.Ser3950Thr,ENST00000527990,;DNHD1,downstream_gene_variant,,ENST00000525080,;DNHD1,upstream_gene_variant,,ENST00000527143,;DNHD1,non_coding_transcript_exon_variant,,ENST00000532467,;DNHD1,non_coding_transcript_exon_variant,,ENST00000529821,;DNHD1,non_coding_transcript_exon_variant,,ENST00000525883,;DNHD1,non_coding_transcript_exon_variant,,ENST00000530197,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533635,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,downstream_gene_variant,,ENST00000526027,;DNHD1,downstream_gene_variant,,ENST00000524401,;DNHD1,downstream_gene_variant,,ENST00000531903,;	12412	122	134	SUCCESS
GSTP1	2950	.	GRCh37	11	67352223	67352223	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752731774	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	449	23	105	0	ENST00000398606.3:c.212G>A	p.Arg71His	p.R71H	ENST00000398606	NM_000852.3	71	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS41679.1	212	MUTECT|MUSE	.	CCTGCGTCACC	NONE	byFrequency	.	PROSITE_profiles:PS50404,hmmpanther:PTHR11571:SF96,hmmpanther:PTHR11571,Gene3D:3.40.30.10,Pfam_domain:PF02798,Superfamily_domains:SSF52833	.	.	ENSP00000381607	.	4/7	.	.	.	.	.	.	.	.	rs752731774	4/7	PASS	ENST00000398606	Transcript	.	.	ENSG00000084207	4638	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GSTP1_HUMAN	GSTP1	HGNC	C7DJS1_HUMAN,B2C310_HUMAN	.	UPI000011028B	SNV	GSTP1,missense_variant,p.Arg71His,ENST00000398603,;GSTP1,missense_variant,p.Arg71His,ENST00000398606,;GSTP1,non_coding_transcript_exon_variant,,ENST00000476137,;GSTP1,non_coding_transcript_exon_variant,,ENST00000498765,;GSTP1,non_coding_transcript_exon_variant,,ENST00000464930,;GSTP1,upstream_gene_variant,,ENST00000495996,;GSTP1,non_coding_transcript_exon_variant,,ENST00000494593,;GSTP1,non_coding_transcript_exon_variant,,ENST00000489040,;GSTP1,upstream_gene_variant,,ENST00000467591,;	461	105	472	SUCCESS
MYO1H	283446	.	GRCh37	12	109879426	109879426	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	34	188	0	ENST00000310903.5:c.2497C>T	p.Gln833Ter	p.Q833*	ENST00000310903		833	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS53826.1	2497	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCAAAAG	NONE	.	.	Pfam_domain:PF06017,hmmpanther:PTHR13140:SF353,hmmpanther:PTHR13140	.	.	ENSP00000439182	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000310903	Transcript	.	.	ENSG00000174527	13879	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,stop_gained,p.Gln843Ter,ENST00000431443,;MYO1H,stop_gained,p.Gln833Ter,ENST00000310903,;RP11-256L11.3,downstream_gene_variant,,ENST00000539987,;MYO1H,non_coding_transcript_exon_variant,,ENST00000542268,;MYO1H,non_coding_transcript_exon_variant,,ENST00000457826,;MYO1H,upstream_gene_variant,,ENST00000543960,;	2603	188	237	SUCCESS
PARP11	57097	.	GRCh37	12	3939151	3939151	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	16	114	0	ENST00000228820.4:c.52A>G	p.Lys18Glu	p.K18E	ENST00000228820	NM_020367.4	18	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS8523.2	52	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTAGAAA	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF10	.	.	ENSP00000228820	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000228820	Transcript	.	.	ENSG00000111224	1186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.23)	.	PAR11_HUMAN	PARP11	HGNC	.	.	UPI0000374D35	SNV	PARP11,missense_variant,p.Lys18Glu,ENST00000228820,;PARP11,missense_variant,p.Lys11Glu,ENST00000397096,;PARP11,5_prime_UTR_variant,,ENST00000447133,;PARP11,5_prime_UTR_variant,,ENST00000450737,;PARP11,5_prime_UTR_variant,,ENST00000427057,;PARP11,missense_variant,p.Lys18Glu,ENST00000453942,;PARP11,missense_variant,p.Lys18Glu,ENST00000458162,;PARP11,missense_variant,p.Lys18Glu,ENST00000416739,;	197	114	96	SUCCESS
LRRK2	120892	.	GRCh37	12	40707956	40707956	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	42	131	0	ENST00000298910.7:c.4719T>G	p.Val1573=	p.V1573=	ENST00000298910	NM_198578.3	1573	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS31774.1	4719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTTCACTT	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	.	.	ENSP00000298910	.	32/51	.	.	.	.	.	.	.	.	.	32/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,synonymous_variant,p.%3D,ENST00000298910,;LRRK2,non_coding_transcript_exon_variant,,ENST00000481256,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	4777	131	178	SUCCESS
CSAD	51380	.	GRCh37	12	53553482	53553482	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	92	0	ENST00000444623.1:c.1233T>C	p.Asn411=	p.N411=	ENST00000444623	NM_001244705.1	411	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS8848.2	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACATTGAC	NONE	.	.	hmmpanther:PTHR11999:SF72,hmmpanther:PTHR11999,Pfam_domain:PF00282,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	.	.	ENSP00000267085	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000267085	Transcript	.	.	ENSG00000139631	18966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSAD_HUMAN	CSAD	HGNC	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN	.	UPI0000E59693	SNV	CSAD,synonymous_variant,p.%3D,ENST00000444623,;CSAD,synonymous_variant,p.%3D,ENST00000267085,;CSAD,synonymous_variant,p.%3D,ENST00000379846,;CSAD,synonymous_variant,p.%3D,ENST00000379843,;CSAD,synonymous_variant,p.%3D,ENST00000379850,;CSAD,synonymous_variant,p.%3D,ENST00000453446,;CSAD,downstream_gene_variant,,ENST00000548698,;RP11-1136G11.8,intron_variant,,ENST00000550908,;CSAD,3_prime_UTR_variant,,ENST00000475890,;CSAD,downstream_gene_variant,,ENST00000485004,;CSAD,downstream_gene_variant,,ENST00000483632,;CSAD,downstream_gene_variant,,ENST00000490923,;CSAD,downstream_gene_variant,,ENST00000490589,;CSAD,downstream_gene_variant,,ENST00000472908,;	1548	92	119	SUCCESS
SACS	26278	.	GRCh37	13	23912521	23912521	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	81	0	ENST00000382292.3:c.5494T>A	p.Phe1832Ile	p.F1832I	ENST00000382292		1832	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS9300.2	5494	MUTECT|MUSE|VARSCANS	.	GGAAAACTTCA	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.989)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Phe1832Ile,ENST00000382292,;SACS,missense_variant,p.Phe1082Ile,ENST00000402364,;SACS,missense_variant,p.Phe1832Ile,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	6083	81	78	SUCCESS
DCLK1	9201	.	GRCh37	13	36428640	36428640	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	112	0	ENST00000360631.3:c.1031A>C	p.Gln344Pro	p.Q344P	ENST00000360631		344	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS9354.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGCTTC	NONE	.	.	hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347	.	.	ENSP00000255448	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	tolerated(0.28)	.	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,missense_variant,p.Gln344Pro,ENST00000360631,;DCLK1,missense_variant,p.Gln37Pro,ENST00000379893,;DCLK1,missense_variant,p.Gln344Pro,ENST00000255448,;DCLK1,missense_variant,p.Gln344Pro,ENST00000379892,;DCLK1,non_coding_transcript_exon_variant,,ENST00000460982,;	1243	112	131	SUCCESS
LMO7	4008	.	GRCh37	13	76382095	76382095	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776043309	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	52	0	ENST00000465261.2:c.977G>A	p.Cys326Tyr	p.C326Y	ENST00000465261	NM_015842.2	326	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS53876.1	977	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGTGTAC	NONE	.	.	hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4	.	.	ENSP00000433352	.	7/27	.	.	.	.	.	.	.	.	rs776043309	7/27	PASS	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Cys611Tyr,ENST00000357063,;LMO7,missense_variant,p.Cys326Tyr,ENST00000465261,;LMO7,missense_variant,p.Cys611Tyr,ENST00000377534,;LMO7,missense_variant,p.Cys326Tyr,ENST00000321797,;LMO7,missense_variant,p.Cys235Tyr,ENST00000447038,;LMO7,intron_variant,,ENST00000526202,;LMO7,intron_variant,,ENST00000341547,;LMO7,intron_variant,,ENST00000377499,;LMO7,intron_variant,,ENST00000489941,;LMO7,intron_variant,,ENST00000497947,;LMO7,intron_variant,,ENST00000525373,;LMO7,downstream_gene_variant,,ENST00000534657,;LMO7,downstream_gene_variant,,ENST00000526371,;LMO7,downstream_gene_variant,,ENST00000526528,;LMO7,downstream_gene_variant,,ENST00000533305,;RP11-29G8.3,downstream_gene_variant,,ENST00000563635,;LMO7,downstream_gene_variant,,ENST00000465309,;	1737	52	47	SUCCESS
CBLN3	643866	.	GRCh37	14	24898453	24898453	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	9	0	ENST00000267406.6:c.-193G>A		p.*65*	ENST00000267406	NM_001039771.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32057.1	.	RADIA|MUTECT|MUSE	.	TCCCTCCTCCT	NONE	.	.	.	.	.	ENSP00000267406	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000267406	Transcript	.	.	ENSG00000139899	20146	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBLN3_HUMAN	CBLN3	HGNC	.	.	UPI0000048F04	SNV	CBLN3,5_prime_UTR_variant,,ENST00000267406,;CBLN3,intron_variant,,ENST00000555436,;KHNYN,upstream_gene_variant,,ENST00000251343,;KHNYN,upstream_gene_variant,,ENST00000553935,;KHNYN,upstream_gene_variant,,ENST00000556842,;KHNYN,upstream_gene_variant,,ENST00000554268,;KHNYN,upstream_gene_variant,,ENST00000556510,;	279	9	12	SUCCESS
KIAA0586	9786	.	GRCh37	14	58965663	58965663	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	44	95	0	ENST00000354386.6:c.4312T>G	p.Phe1438Val	p.F1438V	ENST00000354386	NM_001244189.1	1438	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS58320.1	4312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAATTTGAC	NONE	.	.	hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2	.	.	ENSP00000346359	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.19)	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	SNV	KIAA0586,missense_variant,p.Phe67Val,ENST00000555397,;KIAA0586,missense_variant,p.Phe1309Val,ENST00000261244,;KIAA0586,missense_variant,p.Phe1341Val,ENST00000423743,;KIAA0586,missense_variant,p.Phe1438Val,ENST00000354386,;KIAA0586,missense_variant,p.Phe1370Val,ENST00000556134,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	4556	95	137	SUCCESS
NUMB	8650	.	GRCh37	14	73746111	73746111	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	30	147	0	ENST00000355058.3:c.1118T>G	p.Phe373Cys	p.F373C	ENST00000355058		373	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS32116.1	1118	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGAAGGCT	NONE	.	.	hmmpanther:PTHR11232:SF33,hmmpanther:PTHR11232,PIRSF_domain:PIRSF017607	.	.	ENSP00000347169	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000355058	Transcript	.	.	ENSG00000133961	8060	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.376)	.	tolerated(0.11)	.	NUMB_HUMAN	NUMB	HGNC	Q5D0E5_HUMAN,G3V4S6_HUMAN,G3V3Z8_HUMAN,G3V3R1_HUMAN	.	UPI00001309BF	SNV	NUMB,missense_variant,p.Phe229Cys,ENST00000556772,;NUMB,missense_variant,p.Phe362Cys,ENST00000557597,;NUMB,missense_variant,p.Phe362Cys,ENST00000535282,;NUMB,missense_variant,p.Phe373Cys,ENST00000355058,;NUMB,missense_variant,p.Phe362Cys,ENST00000359560,;NUMB,missense_variant,p.Phe373Cys,ENST00000555238,;NUMB,intron_variant,,ENST00000356296,;NUMB,intron_variant,,ENST00000555394,;NUMB,intron_variant,,ENST00000544991,;NUMB,intron_variant,,ENST00000454166,;NUMB,intron_variant,,ENST00000554521,;NUMB,intron_variant,,ENST00000554546,;NUMB,intron_variant,,ENST00000560335,;NUMB,intron_variant,,ENST00000555738,;NUMB,intron_variant,,ENST00000559312,;PAPLN,downstream_gene_variant,,ENST00000559759,;PAPLN,downstream_gene_variant,,ENST00000381166,;NUMB,downstream_gene_variant,,ENST00000555859,;NUMB,downstream_gene_variant,,ENST00000555307,;PAPLN,downstream_gene_variant,,ENST00000427855,;NUMB,downstream_gene_variant,,ENST00000554394,;PAPLN,downstream_gene_variant,,ENST00000340738,;NUMB,downstream_gene_variant,,ENST00000553997,;NUMB,intron_variant,,ENST00000554014,;NUMB,downstream_gene_variant,,ENST00000557486,;PAPLN,downstream_gene_variant,,ENST00000555700,;PAPLN,downstream_gene_variant,,ENST00000557061,;	1397	147	202	SUCCESS
ZNF410	57862	.	GRCh37	14	74364881	74364881	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764006881	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	58	114	1	ENST00000555044.1:c.496C>T	p.Leu166Phe	p.L166F	ENST00000555044	NM_021188.2	166	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS55929.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCTCCGG	NONE	.	.	hmmpanther:PTHR11389:SF363,hmmpanther:PTHR11389	.	.	ENSP00000407130	.	6/14	.	.	.	.	.	.	.	.	rs764006881	6/14	PASS	ENST00000442160	Transcript	.	.	ENSG00000119725	20144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	deleterious(0.04)	.	ZN410_HUMAN	ZNF410	HGNC	G3V4E6_HUMAN	.	UPI00017A6BE1	SNV	ZNF410,missense_variant,p.Leu183Phe,ENST00000442160,;ZNF410,missense_variant,p.Leu93Phe,ENST00000540593,;ZNF410,missense_variant,p.Leu113Phe,ENST00000557363,;ZNF410,missense_variant,p.Leu113Phe,ENST00000556797,;ZNF410,missense_variant,p.Leu166Phe,ENST00000324593,;ZNF410,missense_variant,p.Leu113Phe,ENST00000334521,;ZNF410,missense_variant,p.Leu166Phe,ENST00000555044,;ZNF410,downstream_gene_variant,,ENST00000554797,;ZNF410,downstream_gene_variant,,ENST00000557495,;ZNF410,downstream_gene_variant,,ENST00000556160,;ZNF410,downstream_gene_variant,,ENST00000555730,;ZNF410,downstream_gene_variant,,ENST00000556659,;RP5-1021I20.5,intron_variant,,ENST00000554009,;ZNF410,non_coding_transcript_exon_variant,,ENST00000412490,;ZNF410,non_coding_transcript_exon_variant,,ENST00000555602,;ZNF410,non_coding_transcript_exon_variant,,ENST00000541357,;ZNF410,missense_variant,p.Leu166Phe,ENST00000398139,;ZNF410,3_prime_UTR_variant,,ENST00000556396,;RP5-1021I20.4,3_prime_UTR_variant,,ENST00000556551,;ZNF410,3_prime_UTR_variant,,ENST00000554582,;	741	116	178	SUCCESS
KIAA1024	0	.	GRCh37	15	79748973	79748973	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	79	0	ENST00000305428.3:c.484G>T	p.Asp162Tyr	p.D162Y	ENST00000305428	NM_015206.2	162	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS32306.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGACTGC	NONE	.	.	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2	.	.	ENSP00000307461	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0.01)	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,missense_variant,p.Asp162Tyr,ENST00000305428,;KIAA1024,missense_variant,p.Asp162Tyr,ENST00000559272,;	559	79	62	SUCCESS
MAN2A2	4122	.	GRCh37	15	91461902	91461902	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776525016	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	47	0	ENST00000360468.3:c.3217G>A	p.Ala1073Thr	p.A1073T	ENST00000360468	NM_006122.2	1073	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32332.1	3217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGCACTC	NONE	byFrequency	.	Superfamily_domains:SSF74650,Pfam_domain:PF07748,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	21/22	.	.	.	.	.	.	.	.	rs776525016,COSM4057962	21/22	PASS	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Ala716Thr,ENST00000557865,;MAN2A2,missense_variant,p.Ala1073Thr,ENST00000360468,;MAN2A2,missense_variant,p.Ala272Thr,ENST00000557990,;MAN2A2,missense_variant,p.Ala263Thr,ENST00000430376,;MAN2A2,missense_variant,p.Ala1073Thr,ENST00000559717,;MAN2A2,missense_variant,p.Ala581Thr,ENST00000431652,;MAN2A2,downstream_gene_variant,,ENST00000560147,;AC068831.15,downstream_gene_variant,,ENST00000560522,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560926,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000559558,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000558538,;MAN2A2,missense_variant,p.Ala283Thr,ENST00000561448,;MAN2A2,3_prime_UTR_variant,,ENST00000558161,;MAN2A2,3_prime_UTR_variant,,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560880,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000558374,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000559341,;MAN2A2,upstream_gene_variant,,ENST00000559704,;	3235	47	49	SUCCESS
ZFHX3	463	.	GRCh37	16	72993867	72993867	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200390317	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	20	0	ENST00000268489.5:c.178C>T	p.Arg60Cys	p.R60C	ENST00000268489	NM_006885.3	60	Cgc/Tgc	0	.	A:0	.	A:0.0014	.	A	R/C	protein_coding	YES	CCDS10908.1	178	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGCTCAT	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000268489	A:0	2/10	.	.	.	.	.	.	.	.	rs200390317,COSM1233347	2/10	PASS	ENST00000268489	Transcript	.	A:0.0002	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.002)	A:0	.	0,1	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Arg60Cys,ENST00000268489,;ZFHX3,intron_variant,,ENST00000397992,;	851	20	27	SUCCESS
GSE1	23199	.	GRCh37	16	85697087	85697087	+	synonymous_variant	Silent	SNP	G	G	A	rs763330643	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	23	104	0	ENST00000253458.7:c.2511G>A	p.Gln837=	p.Q837=	ENST00000253458	NM_014615.3	837	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS10952.1	2511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAGACGCC	NONE	byFrequency	.	Pfam_domain:PF12540,hmmpanther:PTHR17608:SF3,hmmpanther:PTHR17608	.	.	ENSP00000253458	.	11/16	.	.	.	.	.	.	.	.	rs763330643	11/16	PASS	ENST00000253458	Transcript	.	.	ENSG00000131149	28979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSE1_HUMAN	GSE1	HGNC	C9JLW9_HUMAN	.	UPI0000185F04	SNV	GSE1,synonymous_variant,p.%3D,ENST00000253458,;GSE1,synonymous_variant,p.%3D,ENST00000405402,;GSE1,synonymous_variant,p.%3D,ENST00000438180,;GSE1,synonymous_variant,p.%3D,ENST00000412692,;GSE1,synonymous_variant,p.%3D,ENST00000393243,;RN7SL381P,downstream_gene_variant,,ENST00000577658,;GSE1,non_coding_transcript_exon_variant,,ENST00000469381,;GSE1,upstream_gene_variant,,ENST00000495192,;GSE1,upstream_gene_variant,,ENST00000562659,;GSE1,downstream_gene_variant,,ENST00000479488,;	2687	104	100	SUCCESS
UNC45B	146862	.	GRCh37	17	33486549	33486549	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	66	0	ENST00000268876.5:c.964T>A	p.Tyr322Asn	p.Y322N	ENST00000268876	NM_173167.2	322	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS11292.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTATGTG	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Pfam_domain:PF11701	.	.	ENSP00000268876	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0.05)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Tyr322Asn,ENST00000378449,;UNC45B,missense_variant,p.Tyr322Asn,ENST00000433649,;UNC45B,missense_variant,p.Tyr322Asn,ENST00000268876,;UNC45B,missense_variant,p.Tyr322Asn,ENST00000591048,;UNC45B,missense_variant,p.Tyr322Asn,ENST00000394570,;RP11-799D4.3,downstream_gene_variant,,ENST00000585646,;	1061	66	72	SUCCESS
CDK12	51755	.	GRCh37	17	37619175	37619175	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775376309	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	12	93	0	ENST00000447079.4:c.851C>T	p.Ala284Val	p.A284V	ENST00000447079	NM_015083.1	284	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11337.1	851	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGGCCTACC	NONE	byCluster	.	.	.	.	ENSP00000398880	.	1/14	.	.	.	.	.	.	.	.	rs775376309	1/14	PASS	ENST00000447079	Transcript	.	.	ENSG00000167258	24224	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CDK12_HUMAN	CDK12	HGNC	.	.	UPI000013E688	SNV	CDK12,missense_variant,p.Ala284Val,ENST00000447079,;CDK12,missense_variant,p.Ala284Val,ENST00000584632,;CDK12,missense_variant,p.Ala284Val,ENST00000430627,;	884	93	100	SUCCESS
KRT27	342574	.	GRCh37	17	38935981	38935981	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	72	0	ENST00000301656.3:c.817A>T	p.Arg273Trp	p.R273W	ENST00000301656	NM_181537.3	273	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11375.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTGCGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000301656	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000301656	Transcript	.	.	ENSG00000171446	30841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	K1C27_HUMAN	KRT27	HGNC	.	.	UPI0000200C91	SNV	KRT27,missense_variant,p.Arg273Trp,ENST00000301656,;KRT27,upstream_gene_variant,,ENST00000540723,;	858	72	71	SUCCESS
USP6	9098	.	GRCh37	17	5042895	5042895	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1376515778	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	27	0	ENST00000250066.6:c.1424G>A	p.Trp475Ter	p.W475*	ENST00000250066	NM_004505.2	475	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS11069.2	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGGAGCT	NONE	.	.	hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006	.	.	ENSP00000460380	.	22/38	.	.	.	.	.	.	.	.	COSM219211,COSM219212	22/38	PASS	ENST00000574788	Transcript	.	.	ENSG00000129204	12629	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	UBP6_HUMAN	USP6	HGNC	Q6U210_HUMAN	.	UPI000006226F	SNV	USP6,stop_gained,p.Trp475Ter,ENST00000250066,;USP6,stop_gained,p.Trp475Ter,ENST00000574788,;USP6,stop_gained,p.Trp158Ter,ENST00000304328,;USP6,stop_gained,p.Trp475Ter,ENST00000332776,;USP6,stop_gained,p.Trp475Ter,ENST00000572949,;USP6,3_prime_UTR_variant,,ENST00000575709,;USP6,downstream_gene_variant,,ENST00000357482,;	3654	27	41	SUCCESS
DSC2	1824	.	GRCh37	18	28650775	28650775	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	83	0	ENST00000280904.6:c.2167A>T	p.Lys723Ter	p.K723*	ENST00000280904	NM_024422.3	723	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS11892.1	2167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTTAGACG	NONE	.	.	hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0	.	.	ENSP00000280904	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000280904	Transcript	.	.	ENSG00000134755	3036	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSC2_HUMAN	DSC2	HGNC	A9X9L1_HUMAN	.	UPI00001298F9	SNV	DSC2,stop_gained,p.Lys723Ter,ENST00000251081,;DSC2,stop_gained,p.Lys723Ter,ENST00000280904,;snoU13,upstream_gene_variant,,ENST00000459603,;	2611	83	72	SUCCESS
LPIN2	9663	.	GRCh37	18	2939526	2939526	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	51	0	ENST00000261596.4:c.774A>G	p.Ser258=	p.S258=	ENST00000261596	NM_014646.2	258	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS11829.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCTGATCT	NONE	.	.	hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11	.	.	ENSP00000261596	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000261596	Transcript	.	.	ENSG00000101577	14450	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,synonymous_variant,p.%3D,ENST00000261596,;LPIN2,downstream_gene_variant,,ENST00000584294,;	1013	51	54	SUCCESS
OR7A5	26659	.	GRCh37	19	14938783	14938783	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	7	116	0	ENST00000322301.3:c.271G>T	p.Val91Phe	p.V91F	ENST00000322301		91	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS12318.1	271	MUTECT|MUSE	.	GATGACTTTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF219,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000316955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322301	Transcript	.	.	ENSG00000188269	8368	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.66)	.	deleterious_low_confidence(0)	.	OR7A5_HUMAN	OR7A5	HGNC	.	.	UPI0000041DE3	SNV	OR7A5,missense_variant,p.Val91Phe,ENST00000594432,;OR7A5,missense_variant,p.Val91Phe,ENST00000322301,;OR7A5,intron_variant,,ENST00000599549,;OR7A5,intron_variant,,ENST00000595922,;OR7A5,intron_variant,,ENST00000601611,;	359	116	158	SUCCESS
OR7A10	390892	.	GRCh37	19	14952139	14952139	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	19	158	0	ENST00000248058.1:c.551T>C	p.Val184Ala	p.V184A	ENST00000248058	NM_001005190.1	184	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32936.1	551	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCACCTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000248058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248058	Transcript	.	.	ENSG00000127515	8356	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.257)	.	deleterious_low_confidence(0.01)	.	OR7AA_HUMAN	OR7A10	HGNC	.	.	UPI0000130B4B	SNV	OR7A10,missense_variant,p.Val184Ala,ENST00000248058,;	551	158	176	SUCCESS
ZNF99	7652	.	GRCh37	19	22940429	22940429	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs778886810	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	12	0	ENST00000596209.1:c.2282G>C	p.Cys761Ser	p.C761S	ENST00000596209	NM_001080409.2	761	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS59369.1	2282	RADIA|SOMATICSNIPER|MUSE	.	ATTTGCAGGGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	rs778886810,COSM710669	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.173)	.	deleterious(0.01)	0,1	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Cys670Ser,ENST00000397104,;ZNF99,missense_variant,p.Cys761Ser,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	2373	12	14	SUCCESS
CELSR2	1952	.	GRCh37	1	109794691	109794691	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	57	340	0	ENST00000271332.3:c.1990G>A	p.Gly664Ser	p.G664S	ENST00000271332	NM_001408.2	664	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS796.1	1990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGGTGGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000271332	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.45)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Gly664Ser,ENST00000271332,;	2051	340	272	SUCCESS
SPRR2E	6704	.	GRCh37	1	153066128	153066128	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	43	176	0	ENST00000368750.3:c.100G>A	p.Glu34Lys	p.E34K	ENST00000368750	NM_001024209.2	34	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS30866.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCAGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF16,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR00021,Prints_domain:PR01217	.	.	ENSP00000357740	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368751	Transcript	.	.	ENSG00000203785	11265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	SPR2E_HUMAN	SPRR2E	HGNC	.	.	UPI000006E67B	SNV	SPRR2E,missense_variant,p.Glu34Lys,ENST00000368751,;SPRR2E,missense_variant,p.Glu34Lys,ENST00000368750,;SPRR2B,intron_variant,,ENST00000368752,;	175	176	175	SUCCESS
SEMA4A	64218	.	GRCh37	1	156146462	156146462	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	33	147	0	ENST00000355014.2:c.1960G>C	p.Ala654Pro	p.A654P	ENST00000355014	NM_001193301.1	654	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS1132.1	1960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGCAGGC	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF15	.	.	ENSP00000357268	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000368285	Transcript	.	.	ENSG00000196189	10729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	tolerated(0.09)	.	SEM4A_HUMAN	SEMA4A	HGNC	Q9HA40_HUMAN,Q5TCJ7_HUMAN,Q5TCJ5_HUMAN,Q5TCI6_HUMAN,B4DKS5_HUMAN	.	UPI000007217A	SNV	SEMA4A,missense_variant,p.Ala654Pro,ENST00000368282,;SEMA4A,missense_variant,p.Ala654Pro,ENST00000355014,;SEMA4A,missense_variant,p.Ala654Pro,ENST00000368285,;SEMA4A,missense_variant,p.Ala522Pro,ENST00000368286,;SEMA4A,missense_variant,p.Ala522Pro,ENST00000368284,;SEMA4A,downstream_gene_variant,,ENST00000484155,;SEMA4A,downstream_gene_variant,,ENST00000487358,;SEMA4A,downstream_gene_variant,,ENST00000462892,;	2227	147	139	SUCCESS
OR6N2	81442	.	GRCh37	1	158747373	158747373	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200003269	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	50	299	0	ENST00000339258.1:c.53C>T	p.Ala18Val	p.A18V	ENST00000339258	NM_001005278.1	18	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS30906.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGCAAAG	NONE	byCluster	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF68,hmmpanther:PTHR26451	.	.	ENSP00000344101	.	1/1	.	.	.	.	.	.	.	.	rs200003269	1/1	PASS	ENST00000339258	Transcript	.	.	ENSG00000188340	15035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.01)	.	OR6N2_HUMAN	OR6N2	HGNC	.	.	UPI0000041C8E	SNV	OR6N2,missense_variant,p.Ala18Val,ENST00000339258,;	53	299	261	SUCCESS
NASP	4678	.	GRCh37	1	46073649	46073649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	51	294	0	ENST00000350030.3:c.1066G>T	p.Ala356Ser	p.A356S	ENST00000350030	NM_002482.3	356	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS524.1	1066	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGCTGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15081:SF1,hmmpanther:PTHR15081	.	.	ENSP00000255120	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000350030	Transcript	.	.	ENSG00000132780	7644	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.132)	.	deleterious_low_confidence(0.01)	.	NASP_HUMAN	NASP	HGNC	Q9P1N1_HUMAN,B4DS57_HUMAN	.	UPI000012FDA0	SNV	NASP,missense_variant,p.Ala358Ser,ENST00000402363,;NASP,missense_variant,p.Ala356Ser,ENST00000350030,;NASP,missense_variant,p.Ala292Ser,ENST00000537798,;NASP,intron_variant,,ENST00000351223,;NASP,intron_variant,,ENST00000528238,;NASP,intron_variant,,ENST00000372052,;NASP,intron_variant,,ENST00000525515,;NASP,intron_variant,,ENST00000437901,;NASP,downstream_gene_variant,,ENST00000527470,;NASP,downstream_gene_variant,,ENST00000470768,;NASP,downstream_gene_variant,,ENST00000534101,;NASP,upstream_gene_variant,,ENST00000530073,;NASP,3_prime_UTR_variant,,ENST00000453748,;NASP,intron_variant,,ENST00000437362,;NASP,intron_variant,,ENST00000527359,;NASP,downstream_gene_variant,,ENST00000529333,;NASP,downstream_gene_variant,,ENST00000531532,;NASP,downstream_gene_variant,,ENST00000528084,;NASP,upstream_gene_variant,,ENST00000481782,;NASP,downstream_gene_variant,,ENST00000464190,;	1153	294	304	SUCCESS
FOXD2	2306	.	GRCh37	1	47904363	47904363	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	37	169	0	ENST00000334793.5:c.556G>C	p.Val186Leu	p.V186L	ENST00000334793	NM_004474.3	186	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS30708.1	556	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGTCAAG	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF85,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000335493	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334793	Transcript	.	.	ENSG00000186564	3803	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.758)	.	deleterious(0)	.	FOXD2_HUMAN	FOXD2	HGNC	.	.	UPI000014153E	SNV	FOXD2,missense_variant,p.Val186Leu,ENST00000334793,;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;	2675	169	224	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20621445	20621445	+	synonymous_variant	Silent	SNP	C	C	A	rs557876344	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	42	202	0	ENST00000202677.7:c.450G>T	p.Leu150=	p.L150=	ENST00000202677	NM_020343.3	150	ctG/ctT	0	.	T:0.0008	.	T:0	.	A	L	protein_coding	YES	CCDS46584.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCAGAAC	NONE	by1000G	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	T:0	.	ENSP00000202677	T:0	6/40	.	.	.	.	.	.	.	.	rs557876344	6/40	PASS	ENST00000202677	Transcript	.	T:0.0002	ENSG00000188559	16207	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,synonymous_variant,p.%3D,ENST00000202677,;RALGAPA2,upstream_gene_variant,,ENST00000430436,;RALGAPA2,non_coding_transcript_exon_variant,,ENST00000424981,;	458	203	261	SUCCESS
ZNF217	7764	.	GRCh37	20	52198139	52198139	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	55	0	ENST00000302342.3:c.1227C>G	p.Thr409=	p.T409=	ENST00000302342	NM_006526.2	409	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS13443.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGGTGGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6	.	.	ENSP00000360526	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000371471	Transcript	.	.	ENSG00000171940	13009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN217_HUMAN	ZNF217	HGNC	A2A326_HUMAN	.	UPI000013C323	SNV	ZNF217,synonymous_variant,p.%3D,ENST00000302342,;ZNF217,synonymous_variant,p.%3D,ENST00000371471,;ZNF217,downstream_gene_variant,,ENST00000431687,;ZNF217,downstream_gene_variant,,ENST00000540425,;	1653	55	75	SUCCESS
LTN1	26046	.	GRCh37	21	30343736	30343736	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	116	0	ENST00000361371.5:c.841G>T	p.Ala281Ser	p.A281S	ENST00000361371		281	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33527.2	979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCAGAGA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12389	.	.	ENSP00000373846	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000389194	Transcript	.	.	ENSG00000198862	13082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	tolerated(0.08)	.	LTN1_HUMAN	LTN1	HGNC	G1UI34_HUMAN	.	UPI000049DF6C	SNV	LTN1,missense_variant,p.Ala281Ser,ENST00000361371,;LTN1,missense_variant,p.Ala327Ser,ENST00000389195,;LTN1,missense_variant,p.Ala327Ser,ENST00000389194,;LTN1,missense_variant,p.Ala210Ser,ENST00000483326,;	985	116	106	SUCCESS
DOPEY2	0	.	GRCh37	21	37618218	37618218	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	27	95	0	ENST00000399151.3:c.3940C>T	p.Leu1314=	p.L1314=	ENST00000399151	NM_005128.2	1314	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13643.1	3940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCTGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;DOPEY2,upstream_gene_variant,,ENST00000463668,;	4025	95	112	SUCCESS
TSPEAR	54084	.	GRCh37	21	45929169	45929169	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	40	246	1	ENST00000323084.4:c.1667A>C	p.Asn556Thr	p.N556T	ENST00000323084	NM_001272037.1	556	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS13712.1	1667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCATTCTGG	NONE	.	.	hmmpanther:PTHR15261,PROSITE_profiles:PS50912	.	.	ENSP00000321987	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000323084	Transcript	.	.	ENSG00000175894	1268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.34)	.	TSEAR_HUMAN	TSPEAR	HGNC	.	.	UPI0000137746	SNV	TSPEAR,missense_variant,p.Asn488Thr,ENST00000397916,;TSPEAR,missense_variant,p.Asn556Thr,ENST00000323084,;TSPEAR-AS1,non_coding_transcript_exon_variant,,ENST00000451035,;TSPEAR-AS1,upstream_gene_variant,,ENST00000430181,;	1733	248	210	SUCCESS
TTC28	23331	.	GRCh37	22	28378887	28378887	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	59	126	0	ENST00000397906.2:c.6768G>C	p.Glu2256Asp	p.E2256D	ENST00000397906	NM_001145418.1	2256	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS46678.1	6768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCTCTGA	NONE	.	.	.	.	.	ENSP00000381003	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.42)	.	tolerated_low_confidence(0.14)	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	SNV	TTC28,missense_variant,p.Glu2256Asp,ENST00000397906,;TTC28,downstream_gene_variant,,ENST00000431039,;TTC28-AS1,intron_variant,,ENST00000435348,;TTC28-AS1,intron_variant,,ENST00000454741,;TTC28-AS1,intron_variant,,ENST00000434221,;TTC28-AS1,intron_variant,,ENST00000430853,;TTC28-AS1,intron_variant,,ENST00000452612,;TTC28-AS1,intron_variant,,ENST00000424161,;TTC28-AS1,intron_variant,,ENST00000419253,;TTC28-AS1,intron_variant,,ENST00000417497,;TTC28-AS1,intron_variant,,ENST00000425112,;TTC28-AS1,intron_variant,,ENST00000453632,;TTC28-AS1,intron_variant,,ENST00000454996,;TTC28-AS1,intron_variant,,ENST00000430525,;TTC28,downstream_gene_variant,,ENST00000480563,;	6910	127	167	SUCCESS
FOXRED2	80020	.	GRCh37	22	36902221	36902221	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs774066494	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	82	0	ENST00000216187.6:c.249G>C	p.Lys83Asn	p.K83N	ENST00000216187	NM_024955.5	83	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS13929.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCGCTTGTT	NONE	.	.	hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF53,Pfam_domain:PF13738,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000380401	.	2/9	.	.	.	.	.	.	.	.	rs774066494	2/9	PASS	ENST00000397224	Transcript	.	.	ENSG00000100350	26264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FXRD2_HUMAN	FOXRED2	HGNC	B0QYA2_HUMAN,A8MUR8_HUMAN	.	UPI00000744FA	SNV	FOXRED2,missense_variant,p.Lys83Asn,ENST00000397224,;FOXRED2,missense_variant,p.Lys83Asn,ENST00000397223,;FOXRED2,missense_variant,p.Lys83Asn,ENST00000216187,;FOXRED2,missense_variant,p.Lys83Asn,ENST00000423980,;EIF3D,downstream_gene_variant,,ENST00000216190,;EIF3D,downstream_gene_variant,,ENST00000541106,;EIF3D,downstream_gene_variant,,ENST00000405442,;EIF3D,downstream_gene_variant,,ENST00000478547,;EIF3D,downstream_gene_variant,,ENST00000462641,;	343	82	105	SUCCESS
ZC3H7B	23264	.	GRCh37	22	41752683	41752683	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	8	74	0	ENST00000352645.4:c.2552G>C	p.Ser851Thr	p.S851T	ENST00000352645	NM_017590.5	851	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS14013.1	2552	MUTECT|MUSE|VARSCANS	.	GAACAGCAACA	NONE	.	.	hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6,Superfamily_domains:SSF57667	.	.	ENSP00000345793	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000352645	Transcript	.	.	ENSG00000100403	30869	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	tolerated(0.25)	.	Z3H7B_HUMAN	ZC3H7B	HGNC	.	.	UPI000002B2AD	SNV	ZC3H7B,missense_variant,p.Ser851Thr,ENST00000352645,;ZC3H7B,missense_variant,p.Ser851Thr,ENST00000351589,;	2809	74	97	SUCCESS
NEB	4703	.	GRCh37	2	152506778	152506778	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373589529	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	29	223	1	ENST00000172853.10:c.7343G>A	p.Arg2448His	p.R2448H	ENST00000172853		2448	cGt/cAt	0	T:0.0003	.	.	.	.	T	R/H	protein_coding	YES	CCDS54407.1	7343	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACGATAT	BUFFER|p.R2448C|c.7342C>T|3,BUFFER|p.R2448C|c.7342C>T|3	byFrequency|byCluster	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	T:0	ENSP00000380505	.	54/182	.	.	.	.	.	.	.	.	rs373589529,COSM1564757,COSM1564756,COSM1564755	54/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	probably_damaging(1)	.	.	0,1,1,1	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Arg2448His,ENST00000603639,;NEB,missense_variant,p.Arg2448His,ENST00000172853,;NEB,missense_variant,p.Arg2448His,ENST00000427231,;NEB,missense_variant,p.Arg2448His,ENST00000397345,;NEB,missense_variant,p.Arg2448His,ENST00000604864,;NEB,missense_variant,p.Arg2448His,ENST00000409198,;	7546	224	189	SUCCESS
G6PC2	57818	.	GRCh37	2	169757874	169757874	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	75	0	ENST00000375363.3:c.33A>C	p.Ile11=	p.I11=	ENST00000375363	NM_021176.2	11	atA/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS2230.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATAATTCA	NONE	.	.	hmmpanther:PTHR12591,hmmpanther:PTHR12591:SF1,PIRSF_domain:PIRSF000905	.	.	ENSP00000364512	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000375363	Transcript	.	.	ENSG00000152254	28906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G6PC2_HUMAN	G6PC2	HGNC	.	.	UPI0000048D51	SNV	G6PC2,synonymous_variant,p.%3D,ENST00000421979,;G6PC2,synonymous_variant,p.%3D,ENST00000375363,;G6PC2,synonymous_variant,p.%3D,ENST00000429379,;SPC25,intron_variant,,ENST00000451987,;SPC25,intron_variant,,ENST00000472216,;G6PC2,upstream_gene_variant,,ENST00000461586,;G6PC2,synonymous_variant,p.%3D,ENST00000282075,;	125	75	89	SUCCESS
ATF2	1386	.	GRCh37	2	176001186	176001186	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	38	150	1	ENST00000264110.2:c.-15T>C		p.*5*	ENST00000264110	NM_001256091.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2262.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTATCACA	NONE	.	.	.	.	.	ENSP00000264110	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000264110	Transcript	.	.	ENSG00000115966	784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATF2_HUMAN	ATF2	HGNC	F5H629_HUMAN,E9PBF9_HUMAN,B3KY57_HUMAN	.	UPI000013D4BE	SNV	ATF2,5_prime_UTR_variant,,ENST00000487334,;ATF2,5_prime_UTR_variant,,ENST00000426833,;ATF2,5_prime_UTR_variant,,ENST00000538946,;ATF2,5_prime_UTR_variant,,ENST00000345739,;ATF2,5_prime_UTR_variant,,ENST00000409499,;ATF2,5_prime_UTR_variant,,ENST00000409833,;ATF2,5_prime_UTR_variant,,ENST00000392544,;ATF2,5_prime_UTR_variant,,ENST00000392543,;ATF2,5_prime_UTR_variant,,ENST00000437522,;ATF2,5_prime_UTR_variant,,ENST00000409635,;ATF2,5_prime_UTR_variant,,ENST00000264110,;ATF2,5_prime_UTR_variant,,ENST00000409437,;ATF2,non_coding_transcript_exon_variant,,ENST00000413123,;ATF2,non_coding_transcript_exon_variant,,ENST00000445349,;ATF2,5_prime_UTR_variant,,ENST00000415955,;ATF2,5_prime_UTR_variant,,ENST00000429579,;ATF2,5_prime_UTR_variant,,ENST00000421438,;ATF2,5_prime_UTR_variant,,ENST00000435231,;ATF2,5_prime_UTR_variant,,ENST00000456655,;ATF2,5_prime_UTR_variant,,ENST00000417080,;ATF2,5_prime_UTR_variant,,ENST00000428760,;	285	151	165	SUCCESS
ARHGAP25	9938	.	GRCh37	2	69049534	69049534	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	89	0	ENST00000409202.3:c.1263C>T	p.Asp421=	p.D421=	ENST00000409202		421	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS33214.2	1263	MUTECT|MUSE|VARSCANS	.	GAGGACAGCAG	NONE	.	.	hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF4	.	.	ENSP00000386911	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000409202	Transcript	.	.	ENSG00000163219	28951	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHG25_HUMAN	ARHGAP25	HGNC	C9JB56_HUMAN	.	UPI0000251EDD	SNV	ARHGAP25,synonymous_variant,p.%3D,ENST00000409030,;ARHGAP25,synonymous_variant,p.%3D,ENST00000409202,;ARHGAP25,synonymous_variant,p.%3D,ENST00000467265,;ARHGAP25,synonymous_variant,p.%3D,ENST00000295381,;ARHGAP25,synonymous_variant,p.%3D,ENST00000497259,;ARHGAP25,synonymous_variant,p.%3D,ENST00000409220,;ARHGAP25,synonymous_variant,p.%3D,ENST00000479844,;ARHGAP25,downstream_gene_variant,,ENST00000497079,;ARHGAP25,downstream_gene_variant,,ENST00000473986,;	1628	89	90	SUCCESS
CHST13	166012	.	GRCh37	3	126255177	126255182	+	inframe_deletion	In_Frame_Del	DEL	AGCTCT	AGCTCT	-	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	AGCTCT	AGCTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	126	18	142	0	ENST00000319340.2:c.162_167del	p.Lys54_Tyr56delinsAsn	p.K54_Y56delinsN	ENST00000319340	NM_152889.2	54	aAGCTCTat/aat	0	.	.	.	.	.	-	KLY/N	protein_coding	YES	CCDS3039.1	161-166	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCAGAAGCTCTATGAC	NONE	.	.	hmmpanther:PTHR12137:SF31,hmmpanther:PTHR12137	.	.	ENSP00000317404	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000319340	Transcript	.	.	ENSG00000180767	21755	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHSTD_HUMAN	CHST13	HGNC	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN	.	UPI00000492E5	deletion	CHST13,inframe_deletion,p.Lys54_Tyr56delinsAsn,ENST00000319340,;C3orf22,intron_variant,,ENST00000505070,;	211-216	142	144	SUCCESS
GPR171	29909	.	GRCh37	3	150916346	150916346	+	synonymous_variant	Silent	SNP	C	C	A	rs775054911	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	21	151	0	ENST00000309180.5:c.828G>T	p.Ser276=	p.S276=	ENST00000309180	NM_013308.3	276	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3155.1	828	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTCGACAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000308479	.	3/3	.	.	.	.	.	.	.	.	rs775054911,COSM1039922	3/3	PASS	ENST00000309180	Transcript	.	.	ENSG00000174946	30057	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	GP171_HUMAN	GPR171	HGNC	C9JR91_HUMAN	.	UPI000005046D	SNV	GPR171,synonymous_variant,p.%3D,ENST00000309180,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,downstream_gene_variant,,ENST00000422248,;GPR171,downstream_gene_variant,,ENST00000480322,;MED12L,downstream_gene_variant,,ENST00000309237,;	1059	151	161	SUCCESS
PCDH10	57575	.	GRCh37	4	134072907	134072907	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs568804747	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	36	179	0	ENST00000264360.5:c.1612G>A	p.Asp538Asn	p.D538N	ENST00000264360	NM_032961.1	538	Gac/Aac	0	.	T:0	.	T:0	.	A	D/N	protein_coding	YES	CCDS34063.1	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGACTTC	NONE	byFrequency|by1000G	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	T:0.002	.	ENSP00000264360	T:0	1/5	.	.	.	.	.	.	.	.	rs568804747	1/5	PASS	ENST00000264360	Transcript	.	T:0.0004	ENSG00000138650	13404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	T:0	tolerated(1)	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,missense_variant,p.Asp538Asn,ENST00000264360,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;PCDH10,upstream_gene_variant,,ENST00000511112,;	2438	179	174	SUCCESS
NPY5R	4889	.	GRCh37	4	164271585	164271585	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	30	156	0	ENST00000338566.3:c.160C>A	p.Leu54Ile	p.L54I	ENST00000338566	NM_006174.2	54	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3804.1	160	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCTTGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.521)	.	tolerated(0.05)	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,missense_variant,p.Leu54Ile,ENST00000506953,;NPY5R,missense_variant,p.Leu54Ile,ENST00000515560,;NPY5R,missense_variant,p.Leu54Ile,ENST00000338566,;	1682	156	177	SUCCESS
RGS12	6002	.	GRCh37	4	3318591	3318591	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781197412	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	35	156	0	ENST00000336727.3:c.694G>A	p.Val232Met	p.V232M	ENST00000336727	NM_002926.3	232	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS3366.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCGTGGGC	NONE	byFrequency	.	PROSITE_profiles:PS01179,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF149,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000339381	.	2/18	.	.	.	.	.	.	.	.	rs781197412	2/18	PASS	ENST00000344733	Transcript	.	.	ENSG00000159788	9994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RGS12_HUMAN	RGS12	HGNC	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN	.	UPI0000133830	SNV	RGS12,missense_variant,p.Val232Met,ENST00000543385,;RGS12,missense_variant,p.Val232Met,ENST00000336727,;RGS12,missense_variant,p.Val232Met,ENST00000382788,;RGS12,missense_variant,p.Val232Met,ENST00000344733,;RGS12,upstream_gene_variant,,ENST00000511805,;RP11-357G3.2,downstream_gene_variant,,ENST00000600073,;RGS12,missense_variant,p.Val232Met,ENST00000514268,;RGS12,non_coding_transcript_exon_variant,,ENST00000502947,;RGS12,intron_variant,,ENST00000506631,;RP11-357G3.2,downstream_gene_variant,,ENST00000510094,;	1598	156	176	SUCCESS
PCDHGA6	56109	.	GRCh37	5	140755726	140755726	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	41	0	ENST00000517434.1:c.2076C>T	p.Tyr692=	p.Y692=	ENST00000517434	NM_018919.2	692	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS54926.1	2076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTACCTGGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107	.	.	ENSP00000429601	.	1/4	.	.	.	.	.	.	.	.	COSM332058	1/4	PASS	ENST00000517434	Transcript	.	.	ENSG00000253731	8704	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PCDG6_HUMAN	PCDHGA6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000715C8	SNV	PCDHGA6,synonymous_variant,p.%3D,ENST00000517434,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;	2076	41	46	SUCCESS
PAPD7	0	.	GRCh37	5	6754921	6754921	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762098149	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	46	193	0	ENST00000230859.6:c.1492G>A	p.Gly498Ser	p.G498S	ENST00000230859	NM_001171805.1	498	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3871.1	1492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGCTAC	NONE	byFrequency	.	hmmpanther:PTHR23092:SF24,hmmpanther:PTHR23092,Low_complexity_(Seg):seg	.	.	ENSP00000230859	.	13/13	.	.	.	.	.	.	.	.	rs762098149,COSM3856082	13/13	PASS	ENST00000230859	Transcript	.	.	ENSG00000112941	16705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated_low_confidence(0.45)	0,1	PAPD7_HUMAN	PAPD7	HGNC	M1JCE6_HUMAN,D6RJD0_HUMAN,B7ZLL4_HUMAN,B4E0T3_HUMAN	.	UPI0000071E30	SNV	PAPD7,missense_variant,p.Gly498Ser,ENST00000230859,;PAPD7,non_coding_transcript_exon_variant,,ENST00000514697,;PAPD7,downstream_gene_variant,,ENST00000514410,;PAPD7,downstream_gene_variant,,ENST00000505457,;	1621	193	242	SUCCESS
UTP15	84135	.	GRCh37	5	72874667	72874667	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	42	107	0	ENST00000296792.4:c.1136G>T	p.Arg379Ile	p.R379I	ENST00000296792	NM_032175.2	379	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS34186.1	1136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATAGAGTTC	NONE	.	.	hmmpanther:PTHR19924,Pfam_domain:PF09384	.	.	ENSP00000296792	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000296792	Transcript	.	.	ENSG00000164338	25758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.19)	.	UTP15_HUMAN	UTP15	HGNC	D6RF65_HUMAN,B4DU75_HUMAN	.	UPI000020CADC	SNV	UTP15,missense_variant,p.Arg189Ile,ENST00000543251,;UTP15,missense_variant,p.Arg406Ile,ENST00000509005,;UTP15,missense_variant,p.Arg360Ile,ENST00000508491,;UTP15,missense_variant,p.Arg379Ile,ENST00000296792,;UTP15,downstream_gene_variant,,ENST00000512550,;	1391	107	139	SUCCESS
FAM81B	153643	.	GRCh37	5	94785850	94785850	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	49	149	0	ENST00000283357.5:c.1226-3C>A		p.X409_splice	ENST00000283357	NM_152548.2	409		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43341.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTACAGGAT	NONE	.	.	.	.	.	ENSP00000283357	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000283357	Transcript	.	.	ENSG00000153347	26335	.	.	LOW	9/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA81B_HUMAN	FAM81B	HGNC	.	.	UPI000045731A	SNV	FAM81B,splice_region_variant,,ENST00000512365,;FAM81B,splice_region_variant,,ENST00000283357,;FAM81B,splice_region_variant,,ENST00000507832,;FAM81B,splice_region_variant,,ENST00000513110,;FAM81B,downstream_gene_variant,,ENST00000503361,;	.	149	157	SUCCESS
RSPH4A	345895	.	GRCh37	6	116937698	116937698	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	13	0	ENST00000229554.5:c.-89G>C		p.*30*	ENST00000229554	NM_001010892.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34521.1	.	MUTECT|MUSE	.	TAAGAGACCGC	NONE	.	.	.	.	.	ENSP00000229554	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000229554	Transcript	.	.	ENSG00000111834	21558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSH4A_HUMAN	RSPH4A	HGNC	.	.	UPI00001D80C4	SNV	RSPH4A,5_prime_UTR_variant,,ENST00000368581,;RSPH4A,5_prime_UTR_variant,,ENST00000229554,;RSPH4A,upstream_gene_variant,,ENST00000368580,;	49	13	10	SUCCESS
MYO6	4646	.	GRCh37	6	76589582	76589582	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1199128164	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	35	182	0	ENST00000369977.3:c.2123G>A	p.Arg708Gln	p.R708Q	ENST00000369977	NM_004999.3	708	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS34487.1	2123	RADIA|MUTECT|MUSE|VARSCANS	.	ATCACGAGCTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000358994	.	21/35	.	.	.	.	.	.	.	.	COSM1672576	21/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	deleterious(0)	1	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Arg708Gln,ENST00000369985,;MYO6,missense_variant,p.Arg708Gln,ENST00000369977,;MYO6,missense_variant,p.Arg708Gln,ENST00000369981,;MYO6,missense_variant,p.Arg708Gln,ENST00000369975,;MYO6,non_coding_transcript_exon_variant,,ENST00000462633,;	2262	182	211	SUCCESS
GBAS	0	.	GRCh37	7	56049254	56049254	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	60	130	0	ENST00000322090.3:c.367C>T	p.Gln123Ter	p.Q123*	ENST00000322090	NM_001483.2	123	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS5521.1	367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCAAGCT	NONE	.	.	hmmpanther:PTHR21017:SF14,hmmpanther:PTHR21017,Gene3D:3.30.70.900,Superfamily_domains:SSF54909	.	.	ENSP00000313050	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000322090	Transcript	.	.	ENSG00000146729	4179	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPS2_HUMAN	GBAS	HGNC	C9K068_HUMAN,C9J7B1_HUMAN	.	UPI00000015EB	SNV	GBAS,stop_gained,p.Gln123Ter,ENST00000322090,;GBAS,synonymous_variant,p.%3D,ENST00000446778,;GBAS,5_prime_UTR_variant,,ENST00000446692,;GBAS,5_prime_UTR_variant,,ENST00000437587,;GBAS,downstream_gene_variant,,ENST00000472404,;GBAS,downstream_gene_variant,,ENST00000487370,;GBAS,stop_gained,p.Gln31Ter,ENST00000415967,;GBAS,3_prime_UTR_variant,,ENST00000456204,;GBAS,non_coding_transcript_exon_variant,,ENST00000497279,;GBAS,upstream_gene_variant,,ENST00000464772,;GBAS,downstream_gene_variant,,ENST00000470036,;	396	130	170	SUCCESS
MAGI2	9863	.	GRCh37	7	77885584	77885584	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	292	148	361	0	ENST00000354212.4:c.1723G>T	p.Asp575Tyr	p.D575Y	ENST00000354212	NM_012301.3	575	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5594.1	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCAGTTG	NONE	.	.	hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316	.	.	ENSP00000346151	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Asp407Tyr,ENST00000536571,;MAGI2,missense_variant,p.Asp412Tyr,ENST00000535697,;MAGI2,missense_variant,p.Asp575Tyr,ENST00000354212,;MAGI2,missense_variant,p.Asp575Tyr,ENST00000419488,;MAGI2,missense_variant,p.Asp575Tyr,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000520379,;	1977	361	440	SUCCESS
TGS1	96764	.	GRCh37	8	56699053	56699053	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs750128892	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	30	79	0	ENST00000260129.5:c.599del	p.Lys200SerfsTer89	p.K200Sfs*89	ENST00000260129	NM_024831.6	199	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS34894.1	596	INDELOCATOR*|VARSCANI*|PINDEL	.	AATGGGAAAAGT	NONE	byFrequency	.	hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32	.	.	ENSP00000260129	.	4/13	.	.	.	.	.	.	.	.	rs750128892	4/13	PASS	ENST00000260129	Transcript	.	.	ENSG00000137574	17843	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TGS1_HUMAN	TGS1	HGNC	.	.	UPI0000DBEF24	deletion	TGS1,frameshift_variant,p.Lys200SerfsTer89,ENST00000260129,;TGS1,3_prime_UTR_variant,,ENST00000523948,;TGS1,upstream_gene_variant,,ENST00000519494,;	1073	79	117	SUCCESS
LRSAM1	90678	.	GRCh37	9	130242224	130242224	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	30	156	0	ENST00000300417.6:c.1010G>T	p.Ser337Ile	p.S337I	ENST00000300417	NM_001005373.3	337	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS6873.1	1010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGCCGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23155:SF420,hmmpanther:PTHR23155	.	.	ENSP00000322937	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000323301	Transcript	.	.	ENSG00000148356	25135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.06)	.	LRSM1_HUMAN	LRSAM1	HGNC	.	.	UPI000013DB12	SNV	LRSAM1,missense_variant,p.Ser337Ile,ENST00000300417,;LRSAM1,missense_variant,p.Ser337Ile,ENST00000323301,;LRSAM1,missense_variant,p.Ser337Ile,ENST00000373324,;LRSAM1,missense_variant,p.Ser337Ile,ENST00000373322,;LRSAM1,non_coding_transcript_exon_variant,,ENST00000498513,;LRSAM1,non_coding_transcript_exon_variant,,ENST00000483302,;LRSAM1,upstream_gene_variant,,ENST00000472068,;	1614	156	156	SUCCESS
GLDC	2731	.	GRCh37	9	6558589	6558589	+	synonymous_variant	Silent	SNP	C	C	A	rs768923849	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	125	0	ENST00000321612.6:c.2022G>T	p.Gly674=	p.G674=	ENST00000321612	NM_000170.2	674	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34987.1	2022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTCCCATA	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF01212,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR00461,hmmpanther:PTHR11773,HAMAP:MF_00711	.	.	ENSP00000370737	.	17/25	.	.	.	.	.	.	.	.	rs768923849	17/25	PASS	ENST00000321612	Transcript	.	.	ENSG00000178445	4313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCSP_HUMAN	GLDC	HGNC	.	.	UPI0000684276	SNV	GLDC,synonymous_variant,p.%3D,ENST00000321612,;GLDC,non_coding_transcript_exon_variant,,ENST00000460457,;GLDC,upstream_gene_variant,,ENST00000467946,;	2173	125	117	SUCCESS
CKS2	1164	.	GRCh37	9	91926142	91926142	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	86	0	ENST00000314355.6:c.-66A>G		p.*22*	ENST00000314355	NM_001827.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6682.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGACGTGG	NONE	.	.	.	.	.	ENSP00000364976	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000314355	Transcript	.	.	ENSG00000123975	2000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CKS2_HUMAN	CKS2	HGNC	.	.	UPI0000048D60	SNV	CKS2,5_prime_UTR_variant,,ENST00000314355,;MIR3153,upstream_gene_variant,,ENST00000580744,;	30	87	77	SUCCESS
ARHGAP6	395	.	GRCh37	X	11162339	11162339	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	88	0	ENST00000337414.4:c.1937C>T	p.Ser646Phe	p.S646F	ENST00000337414	NM_013427.2	646	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS14140.1	1937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGAAACT	NONE	.	.	hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3	.	.	ENSP00000338967	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000337414	Transcript	.	.	ENSG00000047648	676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	RHG06_HUMAN	ARHGAP6	HGNC	B4DN35_HUMAN	.	UPI00001AED54	SNV	ARHGAP6,missense_variant,p.Ser646Phe,ENST00000380718,;ARHGAP6,missense_variant,p.Ser482Phe,ENST00000380717,;ARHGAP6,missense_variant,p.Ser471Phe,ENST00000534860,;ARHGAP6,missense_variant,p.Ser646Phe,ENST00000337414,;ARHGAP6,missense_variant,p.Ser443Phe,ENST00000303025,;ARHGAP6,missense_variant,p.Ser443Phe,ENST00000380736,;ARHGAP6,3_prime_UTR_variant,,ENST00000413512,;ARHGAP6,downstream_gene_variant,,ENST00000380732,;ARHGAP6,3_prime_UTR_variant,,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	2810	88	66	SUCCESS
RNF113A	7737	.	GRCh37	X	119005302	119005302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	7	160	0	ENST00000371442.2:c.275A>T	p.Glu92Val	p.E92V	ENST00000371442	NM_006978.2	92	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS14589.1	275	MUTECT|MUSE	.	CGGGCTCATTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12930,hmmpanther:PTHR12930:SF2	.	.	ENSP00000360497	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371442	Transcript	.	.	ENSG00000125352	12974	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.07)	.	R113A_HUMAN	RNF113A	HGNC	.	.	UPI000013C310	SNV	RNF113A,missense_variant,p.Glu92Val,ENST00000371442,;NDUFA1,upstream_gene_variant,,ENST00000371437,;	490	160	146	SUCCESS
MAP7D3	79649	.	GRCh37	X	135309506	135309506	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	40	220	0	ENST00000316077.9:c.1971A>G	p.Gln657=	p.Q657=	ENST00000316077	NM_024597.3	657	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS44004.1	1971	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTTGCTG	NONE	.	.	Pfam_domain:PF05672,hmmpanther:PTHR15073:SF5,hmmpanther:PTHR15073	.	.	ENSP00000318086	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000316077	Transcript	.	.	ENSG00000129680	25742	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MA7D3_HUMAN	MAP7D3	HGNC	.	.	UPI00001C207C	SNV	MAP7D3,synonymous_variant,p.%3D,ENST00000370663,;MAP7D3,synonymous_variant,p.%3D,ENST00000370661,;MAP7D3,synonymous_variant,p.%3D,ENST00000370660,;MAP7D3,synonymous_variant,p.%3D,ENST00000316077,;MAP7D3,non_coding_transcript_exon_variant,,ENST00000495432,;MAP7D3,non_coding_transcript_exon_variant,,ENST00000489788,;MAP7D3,downstream_gene_variant,,ENST00000477124,;	2192	220	249	SUCCESS
WAS	7454	.	GRCh37	X	48547190	48547190	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs267606468	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	16	0	ENST00000376701.4:c.1073G>T	p.Gly358Val	p.G358V	ENST00000376701	NM_000377.2	358	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS14303.1	1073	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	CCGGGGACCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12779:SF2,hmmpanther:PTHR12779,Gene3D:3.90.810.10,Superfamily_domains:0037032	.	.	ENSP00000365891	.	10/12	.	.	.	.	.	.	.	.	CD043710,rs267606468	10/12	PASS	ENST00000376701	Transcript	.	.	ENSG00000015285	12731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	tolerated(0.33)	.	WASP_HUMAN	WAS	HGNC	C9J3B7_HUMAN	.	UPI000003CA0A	SNV	WAS,missense_variant,p.Gly358Val,ENST00000376701,;WAS,downstream_gene_variant,,ENST00000450772,;WAS,non_coding_transcript_exon_variant,,ENST00000474174,;WAS,downstream_gene_variant,,ENST00000490627,;WAS,downstream_gene_variant,,ENST00000465982,;WAS,upstream_gene_variant,,ENST00000470107,;WAS,downstream_gene_variant,,ENST00000483750,;	1148	16	18	SUCCESS
SYP	6855	.	GRCh37	X	49049852	49049852	+	synonymous_variant	Silent	SNP	C	C	A	rs140804164	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	41	267	0	ENST00000263233.4:c.492G>T	p.Leu164=	p.L164=	ENST00000263233	NM_003179.2	164	ctG/ctT	0	T:0	.	.	.	.	A	L	protein_coding	YES	CCDS14321.1	492	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACAGCCC	NONE	byCluster	.	PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF10,Pfam_domain:PF01284	.	T:0.0003	ENSP00000263233	.	5/7	.	.	.	.	.	.	.	.	rs140804164	5/7	PASS	ENST00000263233	Transcript	.	.	ENSG00000102003	11506	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYPH_HUMAN	SYP	HGNC	B7Z359_HUMAN	.	UPI0000117AEC	SNV	SYP,synonymous_variant,p.%3D,ENST00000479808,;SYP,synonymous_variant,p.%3D,ENST00000263233,;SYP,synonymous_variant,p.%3D,ENST00000538567,;SYP,synonymous_variant,p.%3D,ENST00000472598,;SYP,3_prime_UTR_variant,,ENST00000376303,;SYP,downstream_gene_variant,,ENST00000466635,;SYP,downstream_gene_variant,,ENST00000469389,;SYP,downstream_gene_variant,,ENST00000472737,;SYP,downstream_gene_variant,,ENST00000494396,;	565	267	247	SUCCESS
P2RY4	5030	.	GRCh37	X	69478612	69478612	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	312	86	432	0	ENST00000374519.2:c.863A>G	p.Tyr288Cys	p.Y288C	ENST00000374519	NM_002565.3	288	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14398.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATAGACC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231:SF21,hmmpanther:PTHR24231,PROSITE_profiles:PS50262	.	.	ENSP00000363643	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374519	Transcript	.	.	ENSG00000186912	8542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	deleterious(0.01)	.	P2RY4_HUMAN	P2RY4	HGNC	C6G7W3_HUMAN	.	UPI000002E776	SNV	P2RY4,missense_variant,p.Tyr288Cys,ENST00000374519,;	1043	432	399	SUCCESS
DMBT1	1755	.	GRCh37	10	124333260	124333260	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	86	145	2	ENST00000338354.3:c.265G>T	p.Glu89Ter	p.E89*	ENST00000338354		89	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS44490.1	265	RADIA|VARSCANS	.	CCCTGGAGTCA	NONE	.	.	.	.	.	ENSP00000357905	.	6/53	.	.	.	.	.	.	.	.	.	6/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,stop_gained,p.Glu89Ter,ENST00000368956,;DMBT1,stop_gained,p.Glu89Ter,ENST00000359586,;DMBT1,stop_gained,p.Glu89Ter,ENST00000330163,;DMBT1,stop_gained,p.Glu89Ter,ENST00000344338,;DMBT1,stop_gained,p.Glu89Ter,ENST00000368955,;DMBT1,stop_gained,p.Glu89Ter,ENST00000368909,;DMBT1,stop_gained,p.Glu89Ter,ENST00000338354,;	371	147	110	SUCCESS
CUBN	8029	.	GRCh37	10	17026254	17026254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	78	0	ENST00000377833.4:c.4375T>C	p.Ser1459Pro	p.S1459P	ENST00000377833	NM_001081.3	1459	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS7113.1	4375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGAGTGGA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	30/67	.	.	.	.	.	.	.	.	.	30/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ser1459Pro,ENST00000377833,;CUBN,upstream_gene_variant,,ENST00000438254,;	4441	78	112	SUCCESS
SPAG6	9576	.	GRCh37	10	22700061	22700070	+	frameshift_variant	Frame_Shift_Del	DEL	ATACATCAAC	ATACATCAAC	-	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	ATACATCAAC	ATACATCAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	52	0	ENST00000376624.3:c.1417_1426del	p.Tyr473ValfsTer10	p.Y473Vfs*10	ENST00000376624	NM_012443.3	472	gaATACATCAAC/ga	0	.	.	.	.	.	-	EYIN/X	protein_coding	YES	CCDS7139.1	1416-1425	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAGAATACATCAACAGTAT	NONE	.	.	hmmpanther:PTHR23314,hmmpanther:PTHR23314:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000365811	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000376624	Transcript	.	.	ENSG00000077327	11215	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPAG6_HUMAN	SPAG6	HGNC	.	.	UPI0000073ED7	deletion	SPAG6,frameshift_variant,p.Tyr473ValfsTer10,ENST00000376624,;SPAG6,frameshift_variant,p.Tyr549ValfsTer10,ENST00000376603,;SPAG6,frameshift_variant,p.Tyr448ValfsTer10,ENST00000538630,;SPAG6,frameshift_variant,p.Tyr234ValfsTer10,ENST00000376601,;SPAG6,intron_variant,,ENST00000313311,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,non_coding_transcript_exon_variant,,ENST00000490361,;SPAG6,intron_variant,,ENST00000487973,;	1558-1567	52	44	SUCCESS
MYOZ1	58529	.	GRCh37	10	75391726	75391726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	6	103	0	ENST00000359322.4:c.862A>G	p.Ile288Val	p.I288V	ENST00000359322	NM_021245.3	288	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7330.1	862	MUTECT|MUSE	.	GCCAATATCCA	NONE	.	.	hmmpanther:PTHR15941:SF11,hmmpanther:PTHR15941,Pfam_domain:PF05556	.	.	ENSP00000352272	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000359322	Transcript	.	.	ENSG00000177791	13752	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	MYOZ1_HUMAN	MYOZ1	HGNC	.	.	UPI0000073D83	SNV	MYOZ1,missense_variant,p.Ile288Val,ENST00000359322,;RP11-464F9.22,downstream_gene_variant,,ENST00000609434,;	1227	103	148	SUCCESS
PTEN	5728	.	GRCh37	10	89717712	89717712	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs587782350	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	96	168	0	ENST00000371953.3:c.737C>G	p.Pro246Arg	p.P246R	ENST00000371953	NM_000314.4	246	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS31238.1	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TCAGCCGTTAC	CODON|p.0?|c.1_1212del1212|28,CODON|p.P246L|c.737C>T|10,BUFFER|p.Q245*|c.733C>T|9,BUFFER|p.P246P|c.738G>A|3,BUFFER|p.P248fs*5|c.741_742insA|13,BUFFER|p.V249fs*8|c.743_744ins13|3,BUFFER|p.P248?|c.743C>G|4	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	.	.	ENSP00000361021	.	7/9	.	.	.	.	.	.	.	.	rs587782350,CM991083,COSM5111	7/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.329)	.	deleterious(0.03)	0,0,1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,missense_variant,p.Pro246Arg,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	2094	168	122	SUCCESS
TLL2	7093	.	GRCh37	10	98144387	98144387	+	synonymous_variant	Silent	SNP	G	G	A	rs779196554	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	111	1	ENST00000357947.3:c.2151C>T	p.Asp717=	p.D717=	ENST00000357947	NM_012465.3	717	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS7449.1	2151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTGTCGGA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF49854	.	.	ENSP00000350630	.	16/21	.	.	.	.	.	.	.	.	rs779196554	16/21	PASS	ENST00000357947	Transcript	.	.	ENSG00000095587	11844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLL2_HUMAN	TLL2	HGNC	.	.	UPI0000073AEE	SNV	TLL2,synonymous_variant,p.%3D,ENST00000357947,;	2377	112	98	SUCCESS
LRRC4C	57689	.	GRCh37	11	40136444	40136444	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	91	160	2	ENST00000278198.2:c.1399G>A	p.Asp467Asn	p.D467N	ENST00000278198		467	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31464.1	1399	RADIA|SOMATICSNIPER|VARSCANS	.	CTCATCCTGAG	NONE	.	.	hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	COSM3447209	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.003)	.	tolerated(0.09)	1	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Asp467Asn,ENST00000528697,;LRRC4C,missense_variant,p.Asp467Asn,ENST00000278198,;LRRC4C,missense_variant,p.Asp467Asn,ENST00000530763,;LRRC4C,missense_variant,p.Asp467Asn,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	3363	162	317	SUCCESS
OR4C6	219432	.	GRCh37	11	55433208	55433208	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	37	61	1	ENST00000314259.3:c.566A>G	p.Asp189Gly	p.D189G	ENST00000314259	NM_001004704.1	189	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS31506.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGACACCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF80,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000324769	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314259	Transcript	.	.	ENSG00000181903	14743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious_low_confidence(0.01)	.	OR4C6_HUMAN	OR4C6	HGNC	.	.	UPI0000041868	SNV	OR4C6,missense_variant,p.Asp189Gly,ENST00000314259,;	595	62	116	SUCCESS
OR5M3	219482	.	GRCh37	11	56237770	56237770	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	333	59	228	0	ENST00000312240.2:c.204T>C	p.Asp68=	p.D68=	ENST00000312240	NM_001004742.2	68	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS31532.1	204	RADIA|MUTECT|MUSE|VARSCANS	.	CACACATCAAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000312208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312240	Transcript	.	.	ENSG00000174937	14806	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR5M3_HUMAN	OR5M3	HGNC	.	.	UPI0000041BAA	SNV	OR5M3,synonymous_variant,p.%3D,ENST00000312240,;	245	228	393	SUCCESS
GLYAT	10249	.	GRCh37	11	58491955	58491955	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	25	0	ENST00000344743.3:c.15G>A	p.Leu5=	p.L5=	ENST00000344743	NM_201648.2	5	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7970.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCAATGG	NONE	.	.	hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF5,Pfam_domain:PF06021	.	.	ENSP00000340200	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000344743	Transcript	.	.	ENSG00000149124	13734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLYAT_HUMAN	GLYAT	HGNC	.	.	UPI00003667C7	SNV	GLYAT,synonymous_variant,p.%3D,ENST00000278400,;GLYAT,synonymous_variant,p.%3D,ENST00000529732,;GLYAT,synonymous_variant,p.%3D,ENST00000344743,;GLYAT,non_coding_transcript_exon_variant,,ENST00000531084,;	157	25	68	SUCCESS
SSH3	54961	.	GRCh37	11	67077629	67077629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370197853	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	33	47	0	ENST00000308127.4:c.1502C>T	p.Pro501Leu	p.P501L	ENST00000308127	NM_017857.3	501	cCg/cTg	0	T:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS8157.1	1502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCGCCAG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF107,hmmpanther:PTHR10159	.	T:0.0001	ENSP00000312081	.	13/14	.	.	.	.	.	.	.	.	rs370197853	13/14	PASS	ENST00000308127	Transcript	.	.	ENSG00000172830	30581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.03)	.	SSH3_HUMAN	SSH3	HGNC	.	.	UPI0000038D01	SNV	SSH3,missense_variant,p.Pro501Leu,ENST00000308127,;SSH3,missense_variant,p.Pro204Leu,ENST00000527821,;SSH3,splice_region_variant,,ENST00000376757,;SSH3,intron_variant,,ENST00000308298,;SSH3,downstream_gene_variant,,ENST00000529224,;SSH3,downstream_gene_variant,,ENST00000531495,;SSH3,upstream_gene_variant,,ENST00000525913,;SSH3,downstream_gene_variant,,ENST00000532181,;SSH3,3_prime_UTR_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	1680	47	111	SUCCESS
KNTC1	9735	.	GRCh37	12	123055417	123055429	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTTCAGATAATTC	TTTCAGATAATTC	-	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	TTTCAGATAATTC	TTTCAGATAATTC	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	110	0	ENST00000333479.7:c.1861-4_1869del		p.X621_splice	ENST00000333479	NM_014708.4	621		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45002.1	?-1867	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCTATTTCAGATAATTCTTGCA	NONE	.	.	.	.	.	ENSP00000328236	.	23/64	.	.	.	.	.	.	.	.	.	23/64	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	2	.	HIGH	22/63	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	deletion	KNTC1,splice_acceptor_variant,,ENST00000450485,;KNTC1,splice_acceptor_variant,,ENST00000333479,;	?-2044	110	70	SUCCESS
C12orf68	0	.	GRCh37	12	48577984	48577984	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765465553	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	20	0	ENST00000316554.3:c.79G>C	p.Ala27Pro	p.A27P	ENST00000316554	NM_001013635.3	27	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS31785.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TGCCGGCAGTG	NONE	.	.	hmmpanther:PTHR31554:SF2,hmmpanther:PTHR31554	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	rs765465553	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0.02)	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,missense_variant,p.Ala27Pro,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	619	20	12	SUCCESS
CD4	920	.	GRCh37	12	6927621	6927621	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	24	38	0	ENST00000011653.4:c.1191G>T	p.Met397Ile	p.M397I	ENST00000011653	NM_000616.4	397	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS8562.1	1191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGGCCCT	NONE	.	.	Gene3D:2kluA00,hmmpanther:PTHR11422:SF0,hmmpanther:PTHR11422	.	.	ENSP00000011653	.	8/10	.	.	.	.	.	.	.	.	COSM319342	8/10	PASS	ENST00000011653	Transcript	.	.	ENSG00000010610	1678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.29)	1	CD4_HUMAN	CD4	HGNC	Q6LCP8_HUMAN,Q13969_HUMAN,F5GYA9_HUMAN,B4DT49_HUMAN	.	UPI0000001294	SNV	CD4,missense_variant,p.Met397Ile,ENST00000011653,;CD4,downstream_gene_variant,,ENST00000541982,;GPR162,upstream_gene_variant,,ENST00000428545,;GPR162,upstream_gene_variant,,ENST00000382315,;GPR162,upstream_gene_variant,,ENST00000311268,;GPR162,upstream_gene_variant,,ENST00000541431,;CD4,downstream_gene_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,downstream_gene_variant,,ENST00000538827,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;GPR162,upstream_gene_variant,,ENST00000535220,;CD4,downstream_gene_variant,,ENST00000543755,;CD4,downstream_gene_variant,,ENST00000544344,;	1449	38	40	SUCCESS
ATP8A2	51761	.	GRCh37	13	26145823	26145823	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	62	0	ENST00000381655.2:c.1655T>C	p.Ile552Thr	p.I552T	ENST00000381655	NM_016529.4	552	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS41873.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATAGAAG	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000371070	.	18/37	.	.	.	.	.	.	.	.	.	18/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious(0)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Ile512Thr,ENST00000255283,;ATP8A2,missense_variant,p.Ile552Thr,ENST00000381655,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,missense_variant,p.Ile392Thr,ENST00000281620,;	1797	62	57	SUCCESS
RB1	5925	.	GRCh37	13	48919320	48919321	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	37	0	ENST00000267163.4:c.485_486insA	p.Phe162LeufsTer9	p.F162Lfs*9	ENST00000267163	NM_000321.2	162	ttc/ttAc	0	.	.	.	.	.	A	F/LX	protein_coding	YES	CCDS31973.1	485-486	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTTCAGCA	NONE	.	.	hmmpanther:PTHR13742,Pfam_domain:PF11934	.	.	ENSP00000267163	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Phe162LeufsTer9,ENST00000267163,;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	623-624	37	51	SUCCESS
POTEG	404785	.	GRCh37	14	19563552	19563552	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	G	rs759191872	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	328	225	378	1	ENST00000547889.1:c.1055+11A>G		p.*352*	ENST00000547889				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTACATTA	NONE	byFrequency	.	.	.	.	ENSP00000386971	.	.	.	.	.	.	.	.	.	.	rs759191872	.	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,intron_variant,,ENST00000409832,;CTD-2311B13.5,non_coding_transcript_exon_variant,,ENST00000548748,;RNU6-1239P,upstream_gene_variant,,ENST00000391310,;POTEG,intron_variant,,ENST00000552966,;POTEG,intron_variant,,ENST00000547889,;	.	379	554	SUCCESS
CTSG	1511	.	GRCh37	14	25044580	25044580	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	29	0	ENST00000216336.2:c.94del	p.Arg32AlafsTer29	p.R32Afs*29	ENST00000216336	NM_001911.2	32	Cgc/gc	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS9631.1	94	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGGCGGGAGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216336	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000216336	Transcript	.	.	ENSG00000100448	2532	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CATG_HUMAN	CTSG	HGNC	.	.	UPI00001270AC	deletion	CTSG,frameshift_variant,p.Arg32AlafsTer29,ENST00000216336,;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	131	29	76	SUCCESS
TSR3	115939	.	GRCh37	16	1400190	1400190	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747102484	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	18	0	ENST00000007390.2:c.572G>C	p.Gly191Ala	p.G191A	ENST00000007390	NM_001001410.2	191	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS10435.1	572	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCTTGCCCCAT	NONE	.	.	Pfam_domain:PF04034,hmmpanther:PTHR20426,hmmpanther:PTHR20426:SF0,HAMAP:MF_01116	.	.	ENSP00000007390	.	4/6	.	.	.	.	.	.	.	.	rs747102484	4/6	PASS	ENST00000007390	Transcript	.	.	ENSG00000007520	14175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	TSR3_HUMAN	TSR3	HGNC	.	.	UPI000007142F	SNV	TSR3,missense_variant,p.Gly191Ala,ENST00000007390,;BAIAP3,downstream_gene_variant,,ENST00000421665,;GNPTG,upstream_gene_variant,,ENST00000529110,;BAIAP3,downstream_gene_variant,,ENST00000568887,;BAIAP3,downstream_gene_variant,,ENST00000397488,;GNPTG,upstream_gene_variant,,ENST00000204679,;BAIAP3,downstream_gene_variant,,ENST00000561793,;BAIAP3,downstream_gene_variant,,ENST00000426824,;BAIAP3,downstream_gene_variant,,ENST00000562208,;BAIAP3,downstream_gene_variant,,ENST00000566162,;BAIAP3,downstream_gene_variant,,ENST00000324385,;BAIAP3,downstream_gene_variant,,ENST00000397489,;BAIAP3,downstream_gene_variant,,ENST00000564213,;TSR3,3_prime_UTR_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000561602,;GNPTG,upstream_gene_variant,,ENST00000527168,;GNPTG,upstream_gene_variant,,ENST00000529957,;GNPTG,upstream_gene_variant,,ENST00000527137,;BAIAP3,downstream_gene_variant,,ENST00000567203,;GNPTG,upstream_gene_variant,,ENST00000526820,;GNPTG,upstream_gene_variant,,ENST00000527876,;GNPTG,upstream_gene_variant,,ENST00000534197,;	679	18	21	SUCCESS
SEPHS2	22928	.	GRCh37	16	30456131	30456131	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	72	112	0	ENST00000500504.2:c.918G>A	p.Met306Ile	p.M306I	ENST00000500504		306	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS42150.1	918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCATTAA	NONE	.	.	Superfamily_domains:SSF56042,TIGRFAM_domain:TIGR00476,Gene3D:3.90.650.10,Pfam_domain:PF02769,hmmpanther:PTHR10256:SF1,hmmpanther:PTHR10256	.	.	ENSP00000426234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000500504	Transcript	.	.	ENSG00000179918	19686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	.	.	SPS2_HUMAN	SEPHS2	HGNC	B4E093_HUMAN	.	UPI00001678A0	SNV	SEPHS2,missense_variant,p.Met306Ile,ENST00000500504,;SEPHS2,missense_variant,p.Met306Ile,ENST00000478753,;SEPHS2,missense_variant,p.Met249Ile,ENST00000542752,;	918	112	159	SUCCESS
PHKB	5257	.	GRCh37	16	47622940	47622940	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201074312	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	50	0	ENST00000323584.5:c.995G>A	p.Arg332His	p.R332H	ENST00000323584	NM_000293.2	332	cGt/cAt	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS10729.1	995	RADIA|MUSE	.	TAAACGTTTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3,Pfam_domain:PF00723,Superfamily_domains:SSF48208	A:0.001	.	ENSP00000313504	A:0	10/31	.	.	.	.	.	.	.	.	rs201074312	10/31	PASS	ENST00000323584	Transcript	.	A:0.0002	ENSG00000102893	8927	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.597)	A:0	deleterious(0.03)	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Arg332His,ENST00000299167,;PHKB,missense_variant,p.Arg332His,ENST00000323584,;PHKB,missense_variant,p.Arg325His,ENST00000566044,;PHKB,missense_variant,p.Arg325His,ENST00000455779,;PHKB,non_coding_transcript_exon_variant,,ENST00000567402,;PHKB,downstream_gene_variant,,ENST00000570047,;	1019	50	34	SUCCESS
MC1R	4157	.	GRCh37	16	89985611	89985611	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	51	1	ENST00000555147.1:c.-56G>A		p.*19*	ENST00000555147	NM_002386.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56011.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAGAACTG	NONE	.	.	.	.	.	ENSP00000451605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000555147	Transcript	.	.	ENSG00000258839	6929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSHR_HUMAN	MC1R	HGNC	Q1JUL4_HUMAN	.	UPI00000622C3	SNV	MC1R,5_prime_UTR_variant,,ENST00000555147,;MC1R,5_prime_UTR_variant,,ENST00000555427,;TUBB3,5_prime_UTR_variant,,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000315491,;TUBB3,upstream_gene_variant,,ENST00000556565,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000555576,;RP11-566K11.4,downstream_gene_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000553656,;TUBB3,upstream_gene_variant,,ENST00000555609,;MC1R,downstream_gene_variant,,ENST00000539976,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000554927,;TUBB3,upstream_gene_variant,,ENST00000557262,;AC092143.1,non_coding_transcript_exon_variant,,ENST00000540694,;	1325	52	24	SUCCESS
MYH8	4626	.	GRCh37	17	10304673	10304673	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	43	71	0	ENST00000403437.2:c.3027C>T	p.Thr1009=	p.T1009=	ENST00000403437	NM_002472.2	1009	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS11153.1	3027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGGTCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Superfamily_domains:SSF90257	.	.	ENSP00000384330	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,synonymous_variant,p.%3D,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3122	71	94	SUCCESS
MYH4	4622	.	GRCh37	17	10352333	10352333	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	51	0	ENST00000255381.2:c.4213G>T	p.Glu1405Ter	p.E1405*	ENST00000255381	NM_017533.2	1405	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11154.1	4213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTGCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000255381	.	31/40	.	.	.	.	.	.	.	.	.	31/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,stop_gained,p.Glu1405Ter,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4324	51	68	SUCCESS
ITGB3	3690	.	GRCh37	17	45361990	45361990	+	synonymous_variant	Silent	SNP	A	A	G	rs768911733	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	101	0	ENST00000559488.1:c.543A>G	p.Ala181=	p.A181=	ENST00000559488	NM_000212.2	181	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS11511.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCATTTGT	NONE	.	.	hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	.	.	ENSP00000452786	.	4/15	.	.	.	.	.	.	.	.	rs768911733	4/15	PASS	ENST00000559488	Transcript	.	.	ENSG00000259207	6156	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITB3_HUMAN	ITGB3	HGNC	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN	.	UPI000013D240	SNV	ITGB3,synonymous_variant,p.%3D,ENST00000435993,;ITGB3,synonymous_variant,p.%3D,ENST00000571680,;ITGB3,synonymous_variant,p.%3D,ENST00000559488,;ITGB3,synonymous_variant,p.%3D,ENST00000560629,;	559	101	111	SUCCESS
DDX5	1655	.	GRCh37	17	62496261	62496261	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200823006	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	102	0	ENST00000225792.5:c.1625A>G	p.Asn542Ser	p.N542S	ENST00000225792	NM_004396.3	542	aAt/aGt	0	.	C:0	.	C:0	.	C	N/S	protein_coding	YES	CCDS11659.1	1625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCATTGGTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR24031:SF182,hmmpanther:PTHR24031	C:0.001	.	ENSP00000225792	C:0	13/13	.	.	.	.	.	.	.	.	rs200823006	13/13	PASS	ENST00000225792	Transcript	.	C:0.0002	ENSG00000108654	2746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	C:0	tolerated_low_confidence(0.55)	.	DDX5_HUMAN	DDX5	HGNC	J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN	.	UPI000003B456	SNV	DDX5,missense_variant,p.Asn542Ser,ENST00000578804,;DDX5,missense_variant,p.Asn463Ser,ENST00000450599,;DDX5,missense_variant,p.Asn542Ser,ENST00000225792,;DDX5,downstream_gene_variant,,ENST00000584279,;DDX5,downstream_gene_variant,,ENST00000583212,;DDX5,downstream_gene_variant,,ENST00000581806,;DDX5,downstream_gene_variant,,ENST00000583239,;DDX5,downstream_gene_variant,,ENST00000579091,;DDX5,downstream_gene_variant,,ENST00000578190,;POLG2,upstream_gene_variant,,ENST00000539111,;DDX5,downstream_gene_variant,,ENST00000581697,;DDX5,downstream_gene_variant,,ENST00000585060,;DDX5,downstream_gene_variant,,ENST00000579996,;DDX5,downstream_gene_variant,,ENST00000585111,;DDX5,downstream_gene_variant,,ENST00000577787,;DDX5,downstream_gene_variant,,ENST00000577922,;MIR3064,downstream_gene_variant,,ENST00000581130,;MIR5047,downstream_gene_variant,,ENST00000579212,;DDX5,non_coding_transcript_exon_variant,,ENST00000580026,;DDX5,downstream_gene_variant,,ENST00000581237,;DDX5,downstream_gene_variant,,ENST00000578491,;DDX5,3_prime_UTR_variant,,ENST00000540698,;DDX5,3_prime_UTR_variant,,ENST00000581693,;DDX5,non_coding_transcript_exon_variant,,ENST00000578758,;DDX5,non_coding_transcript_exon_variant,,ENST00000581230,;DDX5,downstream_gene_variant,,ENST00000584549,;DDX5,downstream_gene_variant,,ENST00000585223,;DDX5,downstream_gene_variant,,ENST00000579461,;DDX5,downstream_gene_variant,,ENST00000578400,;DDX5,downstream_gene_variant,,ENST00000582326,;DDX5,downstream_gene_variant,,ENST00000583894,;DDX5,downstream_gene_variant,,ENST00000581551,;DDX5,downstream_gene_variant,,ENST00000583562,;POLG2,upstream_gene_variant,,ENST00000585141,;DDX5,downstream_gene_variant,,ENST00000583201,;POLG2,upstream_gene_variant,,ENST00000578997,;DDX5,downstream_gene_variant,,ENST00000585317,;	2027	102	120	SUCCESS
DNMT1	1786	.	GRCh37	19	10286294	10286294	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	56	88	0	ENST00000340748.4:c.522C>T		p.X174_splice	ENST00000340748		174	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45958.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGCTGTC	NONE	.	.	hmmpanther:PTHR10629:SF11,hmmpanther:PTHR10629,PIRSF_domain:PIRSF037404	.	.	ENSP00000352516	.	7/41	.	.	.	.	.	.	.	.	.	7/41	PASS	ENST00000359526	Transcript	1	.	ENSG00000130816	2976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNMT1_HUMAN	DNMT1	HGNC	K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN	.	UPI000002A823	SNV	DNMT1,synonymous_variant,p.%3D,ENST00000592054,;DNMT1,synonymous_variant,p.%3D,ENST00000340748,;DNMT1,synonymous_variant,p.%3D,ENST00000588118,;DNMT1,synonymous_variant,p.%3D,ENST00000540357,;DNMT1,synonymous_variant,p.%3D,ENST00000588952,;DNMT1,synonymous_variant,p.%3D,ENST00000359526,;DNMT1,synonymous_variant,p.%3D,ENST00000592342,;DNMT1,downstream_gene_variant,,ENST00000586800,;DNMT1,downstream_gene_variant,,ENST00000590619,;DNMT1,downstream_gene_variant,,ENST00000586086,;DNMT1,splice_region_variant,,ENST00000586988,;DNMT1,splice_region_variant,,ENST00000592705,;	750	88	143	SUCCESS
DNMT1	1786	.	GRCh37	19	10286295	10286295	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	55	89	0	ENST00000340748.4:c.522-1G>T		p.X174_splice	ENST00000340748		174		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45958.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCTGTCA	NONE	.	.	.	.	.	ENSP00000352516	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359526	Transcript	1	.	ENSG00000130816	2976	.	.	HIGH	6/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNMT1_HUMAN	DNMT1	HGNC	K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN	.	UPI000002A823	SNV	DNMT1,splice_acceptor_variant,,ENST00000592054,;DNMT1,splice_acceptor_variant,,ENST00000340748,;DNMT1,splice_acceptor_variant,,ENST00000588118,;DNMT1,splice_acceptor_variant,,ENST00000540357,;DNMT1,splice_acceptor_variant,,ENST00000588952,;DNMT1,splice_acceptor_variant,,ENST00000359526,;DNMT1,splice_acceptor_variant,,ENST00000592342,;DNMT1,downstream_gene_variant,,ENST00000586800,;DNMT1,downstream_gene_variant,,ENST00000590619,;DNMT1,downstream_gene_variant,,ENST00000586086,;DNMT1,splice_acceptor_variant,,ENST00000586988,;DNMT1,splice_acceptor_variant,,ENST00000592705,;	.	89	141	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13936368	13936368	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	51	60	0	ENST00000254323.2:c.1869C>T	p.Asp623=	p.D623=	ENST00000254323	NM_023072.2	623	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS32924.1	1869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACCCCAA	NONE	.	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,synonymous_variant,p.%3D,ENST00000592227,;ZSWIM4,synonymous_variant,p.%3D,ENST00000254323,;ZSWIM4,synonymous_variant,p.%3D,ENST00000440752,;ZSWIM4,synonymous_variant,p.%3D,ENST00000590508,;	2058	60	102	SUCCESS
UNC13A	23025	.	GRCh37	19	17758169	17758169	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750232302	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	49	65	0	ENST00000519716.2:c.1949C>T	p.Ala650Val	p.A650V	ENST00000519716	NM_001080421.2	650	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS46013.2	1949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCGCGAAG	NONE	.	.	hmmpanther:PTHR10480	.	.	ENSP00000429562	.	17/44	.	.	.	.	.	.	.	.	rs750232302,COSM4075435,COSM4075437,COSM4075436	17/44	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.173)	.	tolerated(0.31)	0,1,1,1	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,missense_variant,p.Ala650Val,ENST00000252773,;UNC13A,missense_variant,p.Ala650Val,ENST00000519716,;UNC13A,missense_variant,p.Ala648Val,ENST00000550896,;UNC13A,missense_variant,p.Ala650Val,ENST00000552293,;UNC13A,missense_variant,p.Ala650Val,ENST00000551649,;UNC13A,missense_variant,p.Ala738Val,ENST00000428389,;	1949	65	91	SUCCESS
CELF3	11189	.	GRCh37	1	151688481	151688481	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	47	52	0	ENST00000290583.4:c.16G>C	p.Ala6Pro	p.A6P	ENST00000290583	NM_001172648.1	6	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS1002.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCATCCG	NONE	.	.	hmmpanther:PTHR24622:SF169,hmmpanther:PTHR24622,Superfamily_domains:SSF54928	.	.	ENSP00000290583	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000290583	Transcript	.	.	ENSG00000159409	11967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	CELF3_HUMAN	CELF3	HGNC	Q8IZ97_HUMAN	.	UPI000013F059	SNV	CELF3,missense_variant,p.Ala6Pro,ENST00000290585,;CELF3,missense_variant,p.Ala6Pro,ENST00000290583,;RIIAD1,intron_variant,,ENST00000326413,;AL589765.1,intron_variant,,ENST00000442233,;CELF3,intron_variant,,ENST00000420342,;CELF3,intron_variant,,ENST00000478829,;CELF3,upstream_gene_variant,,ENST00000479893,;	810	52	110	SUCCESS
GORAB	92344	.	GRCh37	1	170508682	170508682	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	28	50	0	ENST00000367763.3:c.468C>A	p.Cys156Ter	p.C156*	ENST00000367763	NM_152281.2	156	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS1289.1	468	MUTECT|MUSE|VARSCANS	.	GATTGCAAATT	NONE	.	.	hmmpanther:PTHR21470:SF2,hmmpanther:PTHR21470	.	.	ENSP00000356737	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000367763	Transcript	.	.	ENSG00000120370	25676	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GORAB_HUMAN	GORAB	HGNC	.	.	UPI000013FDCA	SNV	GORAB,stop_gained,p.Cys156Ter,ENST00000367762,;GORAB,stop_gained,p.Cys156Ter,ENST00000367763,;GORAB,non_coding_transcript_exon_variant,,ENST00000465717,;GORAB,3_prime_UTR_variant,,ENST00000498166,;GORAB,non_coding_transcript_exon_variant,,ENST00000498600,;	488	50	128	SUCCESS
TNN	63923	.	GRCh37	1	175105078	175105078	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	36	56	0	ENST00000239462.4:c.3427+1G>C		p.X1143_splice	ENST00000239462	NM_022093.1	1143		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30943.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGTATGA	NONE	.	.	.	.	.	ENSP00000239462	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	HIGH	16/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,splice_donor_variant,,ENST00000239462,;	.	56	172	SUCCESS
OBSCN	84033	.	GRCh37	1	228444505	228444510	+	inframe_deletion	In_Frame_Del	DEL	TGCGCA	TGCGCA	-	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	TGCGCA	TGCGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	93	0	ENST00000422127.1:c.4465_4470del	p.Arg1489_Met1490del	p.R1489_M1490del	ENST00000422127	NM_001098623.2	1488	gTGCGCAtg/gtg	0	.	.	.	.	.	-	VRM/V	protein_coding	YES	CCDS59204.1	4739-4744	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAAAGTGCGCATGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	16/116	.	.	.	.	.	.	.	.	.	16/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	deletion	OBSCN,inframe_deletion,p.Arg53_Met54del,ENST00000359599,;OBSCN,inframe_deletion,p.Arg1489_Met1490del,ENST00000284548,;OBSCN,inframe_deletion,p.Arg1489_Met1490del,ENST00000422127,;OBSCN,inframe_deletion,p.Arg1581_Met1582del,ENST00000570156,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;	4813-4818	93	75	SUCCESS
RPL22	6146	.	GRCh37	1	6257754	6257754	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	32	38	0	ENST00000234875.4:c.75C>A	p.Cys25Ter	p.C25*	ENST00000234875	NM_000983.3	25	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS58.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGCAATC	NONE	.	.	hmmpanther:PTHR10064:SF2,hmmpanther:PTHR10064,Pfam_domain:PF01776	.	.	ENSP00000346088	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000234875	Transcript	.	.	ENSG00000116251	10315	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL22_HUMAN	RPL22	HGNC	Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN	.	UPI000015A487	SNV	RPL22,stop_gained,p.Cys25Ter,ENST00000234875,;RPL22,5_prime_UTR_variant,,ENST00000465387,;RPL22,5_prime_UTR_variant,,ENST00000497965,;RPL22,5_prime_UTR_variant,,ENST00000462296,;RPL22,5_prime_UTR_variant,,ENST00000471204,;RPL22,5_prime_UTR_variant,,ENST00000484532,;RPL22,5_prime_UTR_variant,,ENST00000465335,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,;	114	38	54	SUCCESS
THAP3	90326	.	GRCh37	1	6688628	6688628	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	73	107	0	ENST00000054650.4:c.144C>T	p.Pro48=	p.P48=	ENST00000054650	NM_001195753.1	48	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS55572.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCCAAGCA	NONE	.	.	PROSITE_profiles:PS50950,hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF46,Pfam_domain:PF05485,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716	.	.	ENSP00000054650	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000054650	Transcript	.	.	ENSG00000041988	20855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THAP3_HUMAN	THAP3	HGNC	.	.	UPI000006CFCA	SNV	THAP3,synonymous_variant,p.%3D,ENST00000307896,;THAP3,synonymous_variant,p.%3D,ENST00000054650,;THAP3,synonymous_variant,p.%3D,ENST00000472925,;THAP3,synonymous_variant,p.%3D,ENST00000377627,;PHF13,downstream_gene_variant,,ENST00000377648,;THAP3,intron_variant,,ENST00000484669,;THAP3,downstream_gene_variant,,ENST00000484676,;THAP3,synonymous_variant,p.%3D,ENST00000487819,;THAP3,non_coding_transcript_exon_variant,,ENST00000480647,;	302	107	165	SUCCESS
AAR2	25980	.	GRCh37	20	34828009	34828009	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	58	82	1	ENST00000320849.4:c.219T>A	p.Pro73=	p.P73=	ENST00000320849	NM_001271874.1	73	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13273.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTCGTAT	NONE	.	.	hmmpanther:PTHR12689,Pfam_domain:PF05282	.	.	ENSP00000363043	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000373932	Transcript	.	.	ENSG00000131043	15886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAR2_HUMAN	AAR2	HGNC	.	.	UPI00001285C6	SNV	AAR2,synonymous_variant,p.%3D,ENST00000320849,;AAR2,synonymous_variant,p.%3D,ENST00000373932,;AAR2,synonymous_variant,p.%3D,ENST00000397286,;	565	83	137	SUCCESS
ADNP	23394	.	GRCh37	20	49509730	49509730	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	66	152	1	ENST00000349014.3:c.1521G>A	p.Met507Ile	p.M507I	ENST00000349014	NM_001282532.1	507	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13433.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAACATATG	NONE	.	.	SMART_domains:SM00355,hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740	.	.	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	SNV	ADNP,missense_variant,p.Met507Ile,ENST00000396032,;ADNP,missense_variant,p.Met507Ile,ENST00000396029,;ADNP,missense_variant,p.Met507Ile,ENST00000349014,;ADNP,missense_variant,p.Met507Ile,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	2089	153	209	SUCCESS
RTEL1-TNFRSF6B	100533107	.	GRCh37	20	62324187	62324187	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	rs535831345	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	38	59	0	ENST00000482936.1:c.2682C>T	p.Asp894=	p.D894=	ENST00000482936		894	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS13530.3	2754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGACAGGGC	NONE	by1000G	.	hmmpanther:PTHR11472:SF4,hmmpanther:PTHR11472	T:0.001	.	ENSP00000424307	T:0	29/35	.	.	.	.	.	.	.	.	rs535831345	29/35	PASS	ENST00000508582	Transcript	1	T:0.0002	ENSG00000258366	15888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RTEL1_HUMAN	RTEL1	HGNC	.	.	UPI00019B2219	SNV	RTEL1,synonymous_variant,p.%3D,ENST00000370018,;RTEL1,synonymous_variant,p.%3D,ENST00000360203,;RTEL1,synonymous_variant,p.%3D,ENST00000508582,;RTEL1,synonymous_variant,p.%3D,ENST00000318100,;RTEL1,synonymous_variant,p.%3D,ENST00000370003,;TNFRSF6B,upstream_gene_variant,,ENST00000369996,;RTEL1,downstream_gene_variant,,ENST00000425905,;RTEL1,synonymous_variant,p.%3D,ENST00000496816,;RTEL1-TNFRSF6B,synonymous_variant,p.%3D,ENST00000482936,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;	3100	59	73	SUCCESS
CLTCL1	8218	.	GRCh37	22	19220768	19220768	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs116398959	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	74	90	1	ENST00000427926.1:c.1442G>C	p.Arg481Pro	p.R481P	ENST00000427926		481	cGg/cCg	0	T:0.0097	T:0.0159	.	T:0.0014	.	G	R/P	protein_coding	YES	CCDS46662.1	1442	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCGAAGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	T:0	T:0	ENSP00000445677	T:0	9/33	.	.	.	.	.	.	.	.	rs116398959	9/33	PASS	ENST00000263200	Transcript	.	T:0.0046	ENSG00000070371	2093	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	T:0.001	deleterious(0)	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,missense_variant,p.Arg481Pro,ENST00000427926,;CLTCL1,missense_variant,p.Arg481Pro,ENST00000263200,;CLTCL1,missense_variant,p.Arg481Pro,ENST00000353891,;CLTCL1,missense_variant,p.Arg481Pro,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,upstream_gene_variant,,ENST00000540896,;	1515	91	172	SUCCESS
NCF4	4689	.	GRCh37	22	37271708	37271708	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	33	0	ENST00000248899.6:c.641G>C	p.Gly214Ala	p.G214A	ENST00000248899	NM_000631.4	214	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS13935.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGAGCCA	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF00018,Gene3D:2.30.30.40,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF115,PROSITE_profiles:PS50002	.	.	ENSP00000380334	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000397147	Transcript	.	.	ENSG00000100365	7662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	tolerated(0.07)	.	NCF4_HUMAN	NCF4	HGNC	B0QY04_HUMAN	.	UPI000013CC59	SNV	NCF4,missense_variant,p.Gly111Ala,ENST00000447071,;NCF4,missense_variant,p.Gly214Ala,ENST00000397147,;NCF4,missense_variant,p.Gly214Ala,ENST00000248899,;NCF4,missense_variant,p.Gly78Ala,ENST00000415063,;	825	33	37	SUCCESS
STEAP3	55240	.	GRCh37	2	120005536	120005536	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	37	0	ENST00000393106.2:c.774A>T	p.Thr258=	p.T258=	ENST00000393106	NM_018234.2	258	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42738.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACACTGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239:SF7,hmmpanther:PTHR14239	.	.	ENSP00000376822	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000393110	Transcript	.	.	ENSG00000115107	24592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STEA3_HUMAN	STEAP3	HGNC	.	.	UPI0000207E04	SNV	STEAP3,synonymous_variant,p.%3D,ENST00000450943,;STEAP3,synonymous_variant,p.%3D,ENST00000393106,;STEAP3,synonymous_variant,p.%3D,ENST00000393108,;STEAP3,synonymous_variant,p.%3D,ENST00000409811,;STEAP3,synonymous_variant,p.%3D,ENST00000354888,;STEAP3,synonymous_variant,p.%3D,ENST00000393107,;STEAP3,synonymous_variant,p.%3D,ENST00000425223,;STEAP3,synonymous_variant,p.%3D,ENST00000393110,;STEAP3-AS1,intron_variant,,ENST00000454260,;	1255	37	53	SUCCESS
LRP1B	53353	.	GRCh37	2	141747101	141747101	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	rs781511939	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	37	1	ENST00000389484.3:c.2770G>C	p.Ala924Pro	p.A924P	ENST00000389484	NM_018557.2	924	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS2182.1	2770	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACCTGTGC	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	17/91	.	.	.	.	.	.	.	.	rs781511939,COSM1528379	17/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.778)	.	.	0,1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Ala924Pro,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;Y_RNA,upstream_gene_variant,,ENST00000365022,;	3742	38	69	SUCCESS
PLA2R1	22925	.	GRCh37	2	160807872	160807872	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	77	165	0	ENST00000283243.7:c.3519G>T	p.Trp1173Cys	p.W1173C	ENST00000283243	NM_001195641.1	1173	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33309.1	3519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATCCAGTG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	24/30	.	.	.	.	.	.	.	.	COSM234286	24/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Trp1173Cys,ENST00000283243,;PLA2R1,missense_variant,p.Trp1173Cys,ENST00000392771,;	3726	165	181	SUCCESS
GEN1	348654	.	GRCh37	2	17954051	17954051	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs748788774	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	76	0	ENST00000317402.7:c.953A>G	p.Lys318Arg	p.K318R	ENST00000317402	NM_182625.3	318	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1691.1	953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGAAGTAAG	NONE	byFrequency	.	hmmpanther:PTHR11081,hmmpanther:PTHR11081:SF23	.	.	ENSP00000370653	.	8/14	.	.	.	.	.	.	.	.	rs748788774	8/14	PASS	ENST00000381254	Transcript	.	.	ENSG00000178295	26881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.07)	.	GEN_HUMAN	GEN1	HGNC	E9PM30_HUMAN,E9PLG0_HUMAN	.	UPI00004113DA	SNV	GEN1,missense_variant,p.Lys318Arg,ENST00000381254,;GEN1,missense_variant,p.Lys89Arg,ENST00000528873,;GEN1,missense_variant,p.Lys318Arg,ENST00000317402,;SMC6,intron_variant,,ENST00000428868,;SMC6,intron_variant,,ENST00000402989,;GEN1,splice_region_variant,,ENST00000534451,;	1167	76	57	SUCCESS
SPAST	6683	.	GRCh37	2	32341263	32341263	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	61	0	ENST00000315285.3:c.1080T>C	p.Leu360=	p.L360=	ENST00000315285	NM_014946.3	360	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1778.1	1080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTTCCTTC	NONE	.	.	HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,Gene3D:3.40.50.300,PIRSF_domain:PIRSF037338,Superfamily_domains:SSF52540	.	.	ENSP00000320885	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000315285	Transcript	.	.	ENSG00000021574	11233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAST_HUMAN	SPAST	HGNC	E5KRP5_HUMAN	.	UPI0000038A6B	SNV	SPAST,synonymous_variant,p.%3D,ENST00000315285,;SPAST,synonymous_variant,p.%3D,ENST00000345662,;	1205	61	50	SUCCESS
VIT	5212	.	GRCh37	2	36982183	36982183	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	79	180	0	ENST00000389975.3:c.395C>T	p.Ser132Phe	p.S132F	ENST00000389975	NM_001177970.1	132	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS33180.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCCTTTA	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR22992:SF3,hmmpanther:PTHR22992,Gene3D:1jbiA00,Pfam_domain:PF03815,Superfamily_domains:0039469	.	.	ENSP00000368544	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000379242	Transcript	.	.	ENSG00000205221	12697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	VITRN_HUMAN	VIT	HGNC	C9J6F5_HUMAN	.	UPI000006E0F8	SNV	VIT,missense_variant,p.Ser110Phe,ENST00000404084,;VIT,missense_variant,p.Ser132Phe,ENST00000457137,;VIT,missense_variant,p.Ser132Phe,ENST00000389975,;VIT,missense_variant,p.Ser132Phe,ENST00000379242,;VIT,missense_variant,p.Ser132Phe,ENST00000401530,;VIT,missense_variant,p.Ser132Phe,ENST00000379241,;VIT,5_prime_UTR_variant,,ENST00000497382,;	697	180	221	SUCCESS
CNGA3	1261	.	GRCh37	2	99012481	99012481	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs104893614	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	118	161	1	ENST00000272602.2:c.848G>T	p.Arg283Leu	p.R283L	ENST00000272602		283	cGg/cTg	0	.	A:0.0008	.	A:0	.	T	R/L	protein_coding	YES	CCDS2034.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TTCCCGGCTCT	BUFFER|p.S282F|c.845C>T|4	byCluster|by1000G	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	A:0	.	ENSP00000377140	A:0	8/8	.	.	.	.	.	.	.	.	CM980375,rs104893614,COSM1580002	8/8	PASS	ENST00000393504	Transcript	.	A:0.0002	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.999)	A:0	deleterious(0)	0,0,1	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Arg287Leu,ENST00000409937,;CNGA3,missense_variant,p.Arg283Leu,ENST00000393504,;CNGA3,missense_variant,p.Arg265Leu,ENST00000436404,;CNGA3,missense_variant,p.Arg283Leu,ENST00000272602,;	1265	162	217	SUCCESS
MIR567	693152	.	GRCh37	3	111831665	111831665	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	33	0	ENST00000385205.1:n.18T>C		p.*6*	ENST00000385205				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54620.1	.	RADIA|MUSE	.	GACAGTATGTT	NONE	.	.	.	.	.	ENSP00000399392	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000431717	Transcript	.	.	ENSG00000114529	26255	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTMP_HUMAN	C3orf52	HGNC	.	.	UPI000188445B	SNV	C3orf52,intron_variant,,ENST00000484828,;C3orf52,intron_variant,,ENST00000431717,;C3orf52,intron_variant,,ENST00000430855,;C3orf52,intron_variant,,ENST00000264848,;MIR567,mature_miRNA_variant,,ENST00000385205,;C3orf52,intron_variant,,ENST00000494096,;C3orf52,intron_variant,,ENST00000467942,;C3orf52,intron_variant,,ENST00000480282,;C3orf52,downstream_gene_variant,,ENST00000497610,;	.	33	34	SUCCESS
SHOX2	6474	.	GRCh37	3	157820590	157820590	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	95	156	0	ENST00000441443.2:c.45G>C	p.Arg15=	p.R15=	ENST00000441443		15	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS33884.2	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCCGACT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF311,hmmpanther:PTHR24329,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000374240	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000389589	Transcript	.	.	ENSG00000168779	10854	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHOX2_HUMAN	SHOX2	HGNC	.	.	UPI0000169EC9	SNV	SHOX2,synonymous_variant,p.%3D,ENST00000389589,;SHOX2,synonymous_variant,p.%3D,ENST00000490689,;SHOX2,synonymous_variant,p.%3D,ENST00000483851,;SHOX2,synonymous_variant,p.%3D,ENST00000425436,;SHOX2,synonymous_variant,p.%3D,ENST00000441443,;RSRC1,upstream_gene_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,non_coding_transcript_exon_variant,,ENST00000554685,;	640	156	201	SUCCESS
PIK3CA	5290	.	GRCh37	3	178952100	178952100	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	90	1	ENST00000263967.3:c.3155C>A	p.Thr1052Lys	p.T1052K	ENST00000263967	NM_006218.2	1052	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS43171.1	3155	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGACAACAA	SITE|p.T1052K|c.3155C>A|9,CODON|p.T1052A|c.3154A>G|3,BUFFER|p.G1049S|c.3145G>A|16,BUFFER|p.G1049R|c.3145G>C|29,BUFFER|p.G1049R|c.3145G>C|5,BUFFER|p.G1049A|c.3146G>C|3,BUFFER|p.G1049D|c.3146G>A|4,BUFFER|p.G1049G|c.3147T>C|10,BUFFER|p.G1050S|c.3148G>A|3,BUFFER|p.G1050D|c.3149G>A|3,BUFFER|p.W1051*|c.3152G>A|3	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000263967	.	21/21	.	.	.	.	.	.	.	.	COSM17447,COSM33601,COSM1220594	21/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	benign(0.433)	.	tolerated(0.13)	1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Thr1052Lys,ENST00000263967,;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	3312	92	62	SUCCESS
SENP2	59343	.	GRCh37	3	185332412	185332412	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	81	130	0	ENST00000296257.5:c.994G>C	p.Gly332Arg	p.G332R	ENST00000296257	NM_021627.2	332	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS33902.1	994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGGCAGT	BUFFER|p.R330C|c.988C>T|3,BUFFER|p.R330C|c.988C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF11	.	.	ENSP00000296257	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000296257	Transcript	.	.	ENSG00000163904	23116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	SENP2_HUMAN	SENP2	HGNC	J3KQD2_HUMAN,B4E2S4_HUMAN	.	UPI000007452F	SNV	SENP2,missense_variant,p.Gly322Arg,ENST00000545472,;SENP2,missense_variant,p.Gly39Arg,ENST00000444509,;SENP2,missense_variant,p.Gly332Arg,ENST00000296257,;SENP2,missense_variant,p.Gly156Arg,ENST00000427465,;SENP2,3_prime_UTR_variant,,ENST00000413407,;SENP2,non_coding_transcript_exon_variant,,ENST00000483005,;SENP2,non_coding_transcript_exon_variant,,ENST00000478001,;SENP2,downstream_gene_variant,,ENST00000459883,;SENP2,downstream_gene_variant,,ENST00000473760,;SENP2,downstream_gene_variant,,ENST00000476011,;	1234	130	195	SUCCESS
ZNF385D	79750	.	GRCh37	3	21467010	21467010	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746789731	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	61	155	0	ENST00000281523.2:c.826G>A	p.Val276Ile	p.V276I	ENST00000281523	NM_024697.2	276	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS2636.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGACGTGCA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,SMART_domains:SM00451,Pfam_domain:PF12874,PROSITE_patterns:PS00028,hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12	.	.	ENSP00000281523	.	6/8	.	.	.	.	.	.	.	.	rs746789731	6/8	PASS	ENST00000281523	Transcript	.	.	ENSG00000151789	26191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	Z385D_HUMAN	ZNF385D	HGNC	.	.	UPI00000724AC	SNV	ZNF385D,missense_variant,p.Val276Ile,ENST00000281523,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000467140,;	1345	155	191	SUCCESS
ACAA1	30	.	GRCh37	3	38168072	38168072	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs115896366	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	94	145	0	ENST00000333167.8:c.746G>A	p.Arg249His	p.R249H	ENST00000333167	NM_001607.3	249	cGc/cAc	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS2673.1	746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCGGATA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF53901,PIRSF_domain:PIRSF000429,Gene3D:3.40.47.10,Pfam_domain:PF00108,TIGRFAM_domain:TIGR01930,hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF64	T:0	.	ENSP00000333664	T:0.001	8/12	.	.	.	.	.	.	.	.	rs115896366,COSM1044147	8/12	PASS	ENST00000333167	Transcript	.	T:0.0002	ENSG00000060971	82	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	T:0	deleterious(0)	0,1	THIK_HUMAN	ACAA1	HGNC	Q8NCW8_HUMAN	.	UPI0000136E35	SNV	ACAA1,missense_variant,p.Arg122His,ENST00000452171,;ACAA1,missense_variant,p.Arg249His,ENST00000333167,;ACAA1,missense_variant,p.Arg139His,ENST00000421218,;ACAA1,missense_variant,p.Arg97His,ENST00000544624,;ACAA1,missense_variant,p.Arg208His,ENST00000450296,;ACAA1,missense_variant,p.Arg216His,ENST00000301810,;ACAA1,3_prime_UTR_variant,,ENST00000444607,;DLEC1,downstream_gene_variant,,ENST00000308059,;DLEC1,downstream_gene_variant,,ENST00000346219,;DLEC1,downstream_gene_variant,,ENST00000452631,;Y_RNA,upstream_gene_variant,,ENST00000365095,;ACAA1,non_coding_transcript_exon_variant,,ENST00000480865,;ACAA1,upstream_gene_variant,,ENST00000451419,;ACAA1,3_prime_UTR_variant,,ENST00000411549,;ACAA1,3_prime_UTR_variant,,ENST00000423611,;ACAA1,3_prime_UTR_variant,,ENST00000440176,;ACAA1,3_prime_UTR_variant,,ENST00000447223,;ACAA1,non_coding_transcript_exon_variant,,ENST00000469559,;ACAA1,upstream_gene_variant,,ENST00000469600,;ACAA1,downstream_gene_variant,,ENST00000418880,;DLEC1,downstream_gene_variant,,ENST00000478428,;ACAA1,downstream_gene_variant,,ENST00000465181,;	919	145	207	SUCCESS
DNAH12	201625	.	GRCh37	3	57475398	57475398	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	36	0	ENST00000351747.2:c.1352T>A	p.Leu451His	p.L451H	ENST00000351747	NM_178504.4	451	cTc/cAc	0	.	.	.	.	.	T	.	misc_RNA	YES	.	.	RADIA|MUTECT|MUSE	.	GACTGAGAAAT	NONE	.	3996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000391090	Transcript	.	.	ENSG00000212392	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	Y_RNA	RFAM	.	.	.	SNV	DNAH12,missense_variant,p.Leu451His,ENST00000351747,;DNAH12,missense_variant,p.Leu451His,ENST00000389536,;DNAH12,missense_variant,p.Leu451His,ENST00000495027,;Y_RNA,upstream_gene_variant,,ENST00000391090,;	.	36	45	SUCCESS
GRM7	2917	.	GRCh37	3	7620178	7620178	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	80	140	1	ENST00000357716.4:c.1585C>T	p.Pro529Ser	p.P529S	ENST00000357716	NM_000844.3	529	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43042.1	1585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGCCAGGA	NONE	.	.	hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Pfam_domain:PF07562	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.15)	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Pro529Ser,ENST00000402647,;GRM7,missense_variant,p.Pro529Ser,ENST00000486284,;GRM7,missense_variant,p.Pro529Ser,ENST00000389336,;GRM7,missense_variant,p.Pro529Ser,ENST00000357716,;GRM7,missense_variant,p.Pro529Ser,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Pro529Ser,ENST00000389335,;GRM7,missense_variant,p.Pro529Ser,ENST00000467425,;GRM7,missense_variant,p.Pro529Ser,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	1859	141	217	SUCCESS
AASDH	132949	.	GRCh37	4	57244474	57244474	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	106	0	ENST00000205214.6:c.508A>C	p.Ile170Leu	p.I170L	ENST00000205214	NM_181806.2	170	Ata/Cta	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS3504.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTATGCTTT	NONE	.	.	Superfamily_domains:SSF56801,Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095,Low_complexity_(Seg):seg	.	.	ENSP00000205214	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.72)	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,missense_variant,p.Ile170Leu,ENST00000451613,;AASDH,missense_variant,p.Ile170Leu,ENST00000205214,;AASDH,missense_variant,p.Ile170Leu,ENST00000502617,;AASDH,missense_variant,p.Ile70Leu,ENST00000513376,;AASDH,missense_variant,p.Ile17Leu,ENST00000602986,;AASDH,intron_variant,,ENST00000434343,;AASDH,non_coding_transcript_exon_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,intron_variant,,ENST00000514745,;AASDH,downstream_gene_variant,,ENST00000514796,;AASDH,downstream_gene_variant,,ENST00000510012,;	689	106	101	SUCCESS
EPB41L4A	64097	.	GRCh37	5	111643179	111643179	+	synonymous_variant	Silent	SNP	C	C	G	rs750688199	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	43	65	0	ENST00000261486.5:c.108G>C	p.Thr36=	p.T36=	ENST00000261486	NM_022140.3	36	acG/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS43350.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCGTTGA	NONE	byFrequency	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF11,Pfam_domain:PF09379,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000261486	.	2/23	.	.	.	.	.	.	.	.	rs750688199,COSM3607564	2/23	PASS	ENST00000261486	Transcript	.	.	ENSG00000129595	13278	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	E41LA_HUMAN	EPB41L4A	HGNC	Q8NEH8_HUMAN	.	UPI000020C3F8	SNV	EPB41L4A,synonymous_variant,p.%3D,ENST00000261486,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000512395,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000305368,;EPB41L4A,upstream_gene_variant,,ENST00000514203,;	385	65	92	SUCCESS
CEP120	153241	.	GRCh37	5	122722352	122722353	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	31	0	ENST00000306467.5:c.1439_1440del	p.Tyr480SerfsTer12	p.Y480Sfs*12	ENST00000306467		480	tAT/t	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS4134.2	1439-1440	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATGGATATGAG	NONE	.	.	hmmpanther:PTHR21574	.	.	ENSP00000303058	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000306467	Transcript	1	.	ENSG00000168944	26690	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE120_HUMAN	CEP120	HGNC	F8VRV0_HUMAN,D6REX9_HUMAN,D6RC69_HUMAN	.	UPI0000D79C73	deletion	CEP120,frameshift_variant,p.Tyr454SerfsTer12,ENST00000508442,;CEP120,frameshift_variant,p.Tyr480SerfsTer12,ENST00000306467,;CEP120,frameshift_variant,p.Tyr480SerfsTer12,ENST00000328236,;CEP120,frameshift_variant,p.Tyr454SerfsTer12,ENST00000306481,;CEP120,downstream_gene_variant,,ENST00000395431,;CEP120,3_prime_UTR_variant,,ENST00000513565,;CEP120,3_prime_UTR_variant,,ENST00000508138,;CEP120,downstream_gene_variant,,ENST00000503049,;	1744-1745	31	65	SUCCESS
GRM6	2916	.	GRCh37	5	178408750	178408750	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	95	88	0	ENST00000231188.5:c.2542G>T	p.Glu848Ter	p.E848*	ENST00000231188	NM_000843.3	848	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS4442.1	2542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCTGGAT	NONE	.	.	hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,PROSITE_profiles:PS50259	.	.	ENSP00000231188	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000231188	Transcript	1	.	ENSG00000113262	4598	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM6_HUMAN	GRM6	HGNC	.	.	UPI000013C947	SNV	GRM6,stop_gained,p.Glu848Ter,ENST00000231188,;GRM6,stop_gained,p.Glu848Ter,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,downstream_gene_variant,,ENST00000518082,;GRM6,downstream_gene_variant,,ENST00000519003,;	2721	89	214	SUCCESS
HMGCS1	3157	.	GRCh37	5	43297200	43297200	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778890257	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	48	83	0	ENST00000325110.6:c.643A>G	p.Ile215Val	p.I215V	ENST00000325110	NM_001098272.2	215	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34154.1	643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTATAGGAT	NONE	byFrequency	.	hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,TIGRFAM_domain:TIGR01833,Pfam_domain:PF08540,Gene3D:3.40.47.10,Superfamily_domains:SSF53901	.	.	ENSP00000322706	.	5/11	.	.	.	.	.	.	.	.	rs778890257	5/11	PASS	ENST00000325110	Transcript	.	.	ENSG00000112972	5007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	HMCS1_HUMAN	HMGCS1	HGNC	Q8N995_HUMAN,D6RIW1_HUMAN	.	UPI000012C9BC	SNV	HMGCS1,missense_variant,p.Ile215Val,ENST00000433297,;HMGCS1,missense_variant,p.Ile215Val,ENST00000325110,;HMGCS1,downstream_gene_variant,,ENST00000511774,;HMGCS1,downstream_gene_variant,,ENST00000507293,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,downstream_gene_variant,,ENST00000507004,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	850	83	109	SUCCESS
RAB3C	115827	.	GRCh37	5	57878942	57878942	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	20	0	ENST00000282878.4:c.-94A>G		p.*32*	ENST00000282878	NM_138453.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3976.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGCAGAGTG	NONE	.	.	.	.	.	ENSP00000282878	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000282878	Transcript	.	.	ENSG00000152932	30269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB3C_HUMAN	RAB3C	HGNC	.	.	UPI0000133178	SNV	RAB3C,5_prime_UTR_variant,,ENST00000282878,;RAB3C,intron_variant,,ENST00000513316,;	76	20	35	SUCCESS
ACOT12	134526	.	GRCh37	5	80628350	80628350	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765632918	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	67	0	ENST00000307624.3:c.1337A>G	p.Asp446Gly	p.D446G	ENST00000307624	NM_130767.2	446	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4055.1	1337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGTCATCA	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Gene3D:3.30.530.20,Pfam_domain:PF01852,Superfamily_domains:SSF55961	.	.	ENSP00000303246	.	13/15	.	.	.	.	.	.	.	.	rs765632918	13/15	PASS	ENST00000307624	Transcript	.	.	ENSG00000172497	24436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.33)	.	ACO12_HUMAN	ACOT12	HGNC	.	.	UPI0000126D7B	SNV	ACOT12,missense_variant,p.Asp446Gly,ENST00000307624,;ACOT12,non_coding_transcript_exon_variant,,ENST00000508234,;ACOT12,non_coding_transcript_exon_variant,,ENST00000506440,;	1366	67	88	SUCCESS
PRDM13	59336	.	GRCh37	6	100062539	100062539	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	30	0	ENST00000369215.4:c.2028T>C	p.Pro676=	p.P676=	ENST00000369215	NM_021620.3	676	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS43487.1	2028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCTGGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228	.	.	ENSP00000358217	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000369215	Transcript	.	.	ENSG00000112238	13998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD13_HUMAN	PRDM13	HGNC	Q7Z5E7_HUMAN	.	UPI000047099D	SNV	PRDM13,synonymous_variant,p.%3D,ENST00000369215,;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	2333	30	28	SUCCESS
EZR	7430	.	GRCh37	6	159206580	159206580	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	69	111	0	ENST00000337147.7:c.228C>A	p.Leu76=	p.L76=	ENST00000337147	NM_003379.4	76	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5258.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGAGGGG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF19,PROSITE_patterns:PS00660,Pfam_domain:PF09379,Gene3D:3.10.20.90,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000356042	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000367075	Transcript	.	.	ENSG00000092820	12691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EZRI_HUMAN	EZR	HGNC	B7Z9R6_HUMAN	.	UPI0000167BA1	SNV	EZR,synonymous_variant,p.%3D,ENST00000337147,;EZR,synonymous_variant,p.%3D,ENST00000392177,;EZR,synonymous_variant,p.%3D,ENST00000367075,;EZR,non_coding_transcript_exon_variant,,ENST00000476189,;	397	111	180	SUCCESS
CDKN1A	1026	.	GRCh37	6	36652323	36652323	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	98	50	0	ENST00000244741.5:c.445G>C	p.Asp149His	p.D149H	ENST00000244741	NM_000389.4	149	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4824.1	445	RADIA|MUTECT|MUSE	.	TGACAGGTGCG	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,missense_variant,p.Asp149His,ENST00000244741,;CDKN1A,missense_variant,p.Asp149His,ENST00000373711,;CDKN1A,missense_variant,p.Asp183His,ENST00000448526,;CDKN1A,missense_variant,p.Asp149His,ENST00000405375,;CDKN1A,downstream_gene_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000462537,;CDKN1A,downstream_gene_variant,,ENST00000478800,;	680	50	132	SUCCESS
GPR85	54329	.	GRCh37	7	112723996	112723996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	77	0	ENST00000297146.3:c.781C>A	p.Gln261Lys	p.Q261K	ENST00000297146	NM_001146266.1	261	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5758.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGCCTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000297146	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297146	Transcript	.	.	ENSG00000164604	4536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.06)	.	GPR85_HUMAN	GPR85	HGNC	C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN	.	UPI0000004048	SNV	GPR85,missense_variant,p.Gln261Lys,ENST00000297146,;GPR85,missense_variant,p.Gln261Lys,ENST00000501255,;GPR85,missense_variant,p.Gln261Lys,ENST00000424100,;GPR85,missense_variant,p.Gln261Lys,ENST00000449591,;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Gln261Lys,ENST00000610164,;	1385	77	87	SUCCESS
KIAA1549	57670	.	GRCh37	7	138602612	138602612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	57	98	0	ENST00000422774.1:c.1760G>T	p.Ser587Ile	p.S587I	ENST00000422774		587	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS56513.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACTCGGG	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	.	.	ENSP00000416040	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	tolerated(0.08)	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,missense_variant,p.Ser587Ile,ENST00000422774,;KIAA1549,missense_variant,p.Ser537Ile,ENST00000242365,;KIAA1549,missense_variant,p.Ser587Ile,ENST00000440172,;	1809	98	122	SUCCESS
SDK1	221935	.	GRCh37	7	4014121	4014121	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	112	176	1	ENST00000404826.2:c.1938C>T	p.Ser646=	p.S646=	ENST00000404826	NM_152744.3	646	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34590.1	1938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCTGCGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	13/45	.	.	.	.	.	.	.	.	.	13/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,synonymous_variant,p.%3D,ENST00000404826,;SDK1,synonymous_variant,p.%3D,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000484011,;	2077	177	237	SUCCESS
CHD7	55636	.	GRCh37	8	61749438	61749438	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	55	90	0	ENST00000423902.2:c.4052G>A	p.Arg1351Lys	p.R1351K	ENST00000423902	NM_017780.3	1351	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS47865.1	4052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGATTCT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000392028	.	17/38	.	.	.	.	.	.	.	.	.	17/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,missense_variant,p.Arg1351Lys,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;	4531	90	129	SUCCESS
ZFHX4	79776	.	GRCh37	8	77618153	77618153	+	synonymous_variant	Silent	SNP	C	C	T	rs760924722	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	58	87	0	ENST00000521891.2:c.1830C>T	p.Gly610=	p.G610=	ENST00000521891	NM_024721.4	610	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS47878.2	1830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCAGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	rs760924722	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	2278	87	104	SUCCESS
FAM205A	259308	.	GRCh37	9	34726986	34726986	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	33	0	ENST00000378788.3:c.252-1G>T		p.X84_splice	ENST00000378788	NM_001141917.1	84		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55305.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCTAGGA	NONE	.	.	.	.	.	ENSP00000417711	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	HIGH	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,splice_acceptor_variant,,ENST00000378788,;	.	33	40	SUCCESS
KIF27	55582	.	GRCh37	9	86482765	86482765	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	76	1	ENST00000297814.2:c.2768A>C	p.Glu923Ala	p.E923A	ENST00000297814	NM_017576.2	923	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS6665.1	2768	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTCATCC	BUFFER|p.K925N|c.2775G>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115	.	.	ENSP00000297814	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.786)	.	deleterious(0.03)	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,missense_variant,p.Glu857Ala,ENST00000413982,;KIF27,missense_variant,p.Glu923Ala,ENST00000297814,;KIF27,intron_variant,,ENST00000334204,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000589233,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000421734,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000586211,;RP11-575L7.4,downstream_gene_variant,,ENST00000591217,;RP11-575L7.4,downstream_gene_variant,,ENST00000589817,;RP11-575L7.4,downstream_gene_variant,,ENST00000590368,;	2912	77	72	SUCCESS
NXF2B	728343	.	GRCh37	X	101623454	101623454	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	44	133	0	ENST00000457521.2:c.722del	p.Pro241GlnfsTer3	p.P241Qfs*3	ENST00000457521		241	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS43979.1	722	INDELOCATOR|VARSCANI	.	TTACCTGGGTCA	NONE	.	.	hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF15,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000396447	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000457521	Transcript	.	.	ENSG00000185945	23984	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NXF2_HUMAN	NXF2B	HGNC	D3DX98_HUMAN	.	UPI0000130AB1	deletion	NXF2B,frameshift_variant,p.Pro241GlnfsTer3,ENST00000372749,;NXF2B,frameshift_variant,p.Pro241GlnfsTer3,ENST00000457521,;NXF2B,frameshift_variant,p.Pro241GlnfsTer3,ENST00000372750,;NXF2B,frameshift_variant,p.Pro241GlnfsTer3,ENST00000412230,;NXF2B,frameshift_variant,p.Pro153GlnfsTer3,ENST00000372752,;NXF2B,upstream_gene_variant,,ENST00000489531,;	2594	133	222	SUCCESS
SKIDA1	387640	.	GRCh37	10	21805067	21805067	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs199700139	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	122	0	ENST00000449193.2:c.1685A>G	p.Asn562Ser	p.N562S	ENST00000449193	NM_207371.3	562	aAt/aGt	0	C:0	.	.	.	.	C	N/S	protein_coding	YES	CCDS44363.1	1685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATTGGAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187,Pfam_domain:PF15223	.	C:0.0001	ENSP00000410041	.	4/4	.	.	.	.	.	.	.	.	rs199700139	4/4	PASS	ENST00000449193	Transcript	.	.	ENSG00000180592	32697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.9)	.	.	SKIDA1	HGNC	E9PAX1_HUMAN	.	UPI00015386B3	SNV	SKIDA1,missense_variant,p.Asn483Ser,ENST00000444772,;SKIDA1,missense_variant,p.Asn562Ser,ENST00000449193,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	3938	123	64	SUCCESS
SPAG6	9576	.	GRCh37	10	22675715	22675715	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1460514013	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	125	0	ENST00000376624.3:c.505G>T	p.Val169Phe	p.V169F	ENST00000376624	NM_012443.3	169	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS7139.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGTTCCT	NONE	.	.	hmmpanther:PTHR23314,hmmpanther:PTHR23314:SF1,Pfam_domain:PF00514,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000365811	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000376624	Transcript	.	.	ENSG00000077327	11215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	SPAG6_HUMAN	SPAG6	HGNC	.	.	UPI0000073ED7	SNV	SPAG6,missense_variant,p.Val169Phe,ENST00000313311,;SPAG6,missense_variant,p.Val169Phe,ENST00000376624,;SPAG6,missense_variant,p.Val245Phe,ENST00000376603,;SPAG6,missense_variant,p.Val144Phe,ENST00000538630,;SPAG6,missense_variant,p.Val245Phe,ENST00000435326,;SPAG6,intron_variant,,ENST00000456231,;SPAG6,intron_variant,,ENST00000376601,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,intron_variant,,ENST00000488555,;	647	125	89	SUCCESS
ZNF37A	7587	.	GRCh37	10	38406925	38406925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	53	0	ENST00000351773.3:c.846G>T	p.Gln282His	p.Q282H	ENST00000351773	NM_001007094.2	282	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS31183.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGAAGTC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF188,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000354377	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361085	Transcript	.	.	ENSG00000075407	13102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	tolerated(0.11)	.	ZN37A_HUMAN	ZNF37A	HGNC	.	.	UPI000006E045	SNV	ZNF37A,missense_variant,p.Gln282His,ENST00000361085,;ZNF37A,missense_variant,p.Gln282His,ENST00000351773,;ZNF37A,downstream_gene_variant,,ENST00000477790,;ZNF37A,downstream_gene_variant,,ENST00000479469,;	1191	53	31	SUCCESS
CHAT	1103	.	GRCh37	10	50857589	50857589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	72	172	0	ENST00000337653.2:c.1418C>A	p.Ser473Tyr	p.S473Y	ENST00000337653	NM_020549.4	473	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS7232.1	1418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTCCGTCA	NONE	.	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000337103	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000337653	Transcript	1	.	ENSG00000070748	1912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,missense_variant,p.Ser355Tyr,ENST00000351556,;CHAT,missense_variant,p.Ser391Tyr,ENST00000395562,;CHAT,missense_variant,p.Ser355Tyr,ENST00000395559,;CHAT,missense_variant,p.Ser355Tyr,ENST00000339797,;CHAT,missense_variant,p.Ser355Tyr,ENST00000455728,;CHAT,missense_variant,p.Ser473Tyr,ENST00000337653,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	1571	172	152	SUCCESS
NRG3	10718	.	GRCh37	10	83635708	83635708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	90	0	ENST00000404547.1:c.612C>A	p.Ser204Arg	p.S204R	ENST00000404547		204	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS31233.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCACGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18	.	.	ENSP00000361214	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000372141	Transcript	.	.	ENSG00000185737	7999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.07)	.	NRG3_HUMAN	NRG3	HGNC	D9ZHQ8_HUMAN	.	UPI00003D64C0	SNV	NRG3,missense_variant,p.Ser204Arg,ENST00000404547,;NRG3,missense_variant,p.Ser204Arg,ENST00000372141,;NRG3,upstream_gene_variant,,ENST00000404576,;NRG3,upstream_gene_variant,,ENST00000556918,;NRG3,upstream_gene_variant,,ENST00000372142,;NRG3,upstream_gene_variant,,ENST00000555784,;NRG3,upstream_gene_variant,,ENST00000602794,;	639	91	69	SUCCESS
C11orf1	64776	.	GRCh37	11	111753099	111753099	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	199	1	ENST00000260276.3:c.53A>T	p.Asn18Ile	p.N18I	ENST00000260276	NM_022761.2	18	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS8350.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAACCTCG	NONE	.	.	Pfam_domain:PF06608	.	.	ENSP00000260276	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000260276	Transcript	.	.	ENSG00000137720	1163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.34)	.	CK001_HUMAN	C11orf1	HGNC	E9PLN1_HUMAN	.	UPI000004C5AE	SNV	C11orf1,missense_variant,p.Asn58Ile,ENST00000529270,;C11orf1,missense_variant,p.Asn18Ile,ENST00000260276,;C11orf1,missense_variant,p.Asn34Ile,ENST00000530799,;C11orf1,missense_variant,p.Asn18Ile,ENST00000530214,;C11orf1,5_prime_UTR_variant,,ENST00000528125,;FDXACB1,upstream_gene_variant,,ENST00000528274,;FDXACB1,upstream_gene_variant,,ENST00000260257,;FDXACB1,upstream_gene_variant,,ENST00000542429,;ALG9,upstream_gene_variant,,ENST00000524880,;FDXACB1,upstream_gene_variant,,ENST00000531487,;	390	200	113	SUCCESS
KIF18A	81930	.	GRCh37	11	28116256	28116256	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	47	238	1	ENST00000263181.6:c.417C>T	p.His139=	p.H139=	ENST00000263181	NM_031217.3	139	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS7867.1	417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGTGTAA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF399,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000263181	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000263181	Transcript	.	.	ENSG00000121621	29441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI18A_HUMAN	KIF18A	HGNC	.	.	UPI0000037CCC	SNV	KIF18A,synonymous_variant,p.%3D,ENST00000263181,;KIF18A,non_coding_transcript_exon_variant,,ENST00000533466,;KIF18A,downstream_gene_variant,,ENST00000526288,;	708	240	141	SUCCESS
OR51L1	119682	.	GRCh37	11	5021109	5021109	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	144	0	ENST00000321543.1:c.897G>A	p.Lys299=	p.K299=	ENST00000321543	NM_001004755.1	299	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS31369.1	897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAGCAGAT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,synonymous_variant,p.%3D,ENST00000321543,;	897	144	90	SUCCESS
GLYATL2	219970	.	GRCh37	11	58607044	58607044	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	36	146	0	ENST00000287275.1:c.42T>C	p.Tyr14=	p.Y14=	ENST00000287275	NM_145016.3	14	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS41649.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTATACAG	NONE	.	.	hmmpanther:PTHR15298:SF4,hmmpanther:PTHR15298,Pfam_domain:PF06021	.	.	ENSP00000287275	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000287275	Transcript	.	.	ENSG00000156689	24178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLYL2_HUMAN	GLYATL2	HGNC	.	.	UPI000003FFB7	SNV	GLYATL2,synonymous_variant,p.%3D,ENST00000532258,;GLYATL2,synonymous_variant,p.%3D,ENST00000287275,;GLYATL2,intron_variant,,ENST00000533636,;	433	146	80	SUCCESS
SDHAF2	54949	.	GRCh37	11	61197634	61197634	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	81	0	ENST00000301761.2:c.16G>T	p.Val6Leu	p.V6L	ENST00000301761	NM_017841.2	6	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS8007.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGTGTTC	NONE	.	.	hmmpanther:PTHR12469,hmmpanther:PTHR12469:SF2	.	.	ENSP00000301761	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000301761	Transcript	.	.	ENSG00000167985	26034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.28)	.	SDHF2_HUMAN	SDHAF2	HGNC	F5GYJ5_HUMAN	.	UPI0000039E6D	SNV	SDHAF2,missense_variant,p.Val6Leu,ENST00000534878,;SDHAF2,missense_variant,p.Val6Leu,ENST00000537782,;SDHAF2,missense_variant,p.Val6Leu,ENST00000301761,;RP11-286N22.8,missense_variant,p.Val6Leu,ENST00000541135,;SDHAF2,missense_variant,p.Val6Leu,ENST00000543265,;SDHAF2,missense_variant,p.Val6Leu,ENST00000542074,;CPSF7,upstream_gene_variant,,ENST00000449811,;CPSF7,upstream_gene_variant,,ENST00000477890,;CPSF7,upstream_gene_variant,,ENST00000413232,;CPSF7,upstream_gene_variant,,ENST00000450000,;CPSF7,upstream_gene_variant,,ENST00000340437,;CPSF7,upstream_gene_variant,,ENST00000539952,;CPSF7,upstream_gene_variant,,ENST00000448745,;CPSF7,upstream_gene_variant,,ENST00000413184,;CPSF7,upstream_gene_variant,,ENST00000544585,;CPSF7,upstream_gene_variant,,ENST00000541963,;CPSF7,upstream_gene_variant,,ENST00000439958,;CPSF7,upstream_gene_variant,,ENST00000394888,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000544880,;RP11-286N22.8,intron_variant,,ENST00000544025,;CPSF7,upstream_gene_variant,,ENST00000545934,;CPSF7,upstream_gene_variant,,ENST00000463244,;SDHAF2,missense_variant,p.Val6Leu,ENST00000536250,;RP11-286N22.8,missense_variant,p.Val6Leu,ENST00000538594,;SDHAF2,missense_variant,p.Val6Leu,ENST00000359614,;RP11-286N22.8,missense_variant,p.Val6Leu,ENST00000544801,;SDHAF2,missense_variant,p.Val6Leu,ENST00000542794,;RP11-286N22.8,5_prime_UTR_variant,,ENST00000543044,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000536670,;CPSF7,upstream_gene_variant,,ENST00000544990,;CPSF7,upstream_gene_variant,,ENST00000543545,;CPSF7,upstream_gene_variant,,ENST00000537162,;CPSF7,upstream_gene_variant,,ENST00000535222,;CPSF7,upstream_gene_variant,,ENST00000536145,;CPSF7,upstream_gene_variant,,ENST00000537641,;CPSF7,upstream_gene_variant,,ENST00000536548,;CPSF7,upstream_gene_variant,,ENST00000474684,;CPSF7,upstream_gene_variant,,ENST00000544669,;CPSF7,upstream_gene_variant,,ENST00000489728,;	90	81	52	SUCCESS
GAL	51083	.	GRCh37	11	68458398	68458398	+	synonymous_variant	Silent	SNP	C	C	G	rs748331117	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	79	0	ENST00000265643.3:c.315C>G	p.Leu105=	p.L105=	ENST00000265643	NM_015973.3	105	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8183.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCGACCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16839:SF0,hmmpanther:PTHR16839,Pfam_domain:PF06540,SMART_domains:SM00071	.	.	ENSP00000265643	.	6/6	.	.	.	.	.	.	.	.	rs748331117	6/6	PASS	ENST00000265643	Transcript	.	.	ENSG00000069482	4114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALA_HUMAN	GAL	HGNC	.	.	UPI000002D719	SNV	GAL,synonymous_variant,p.%3D,ENST00000265643,;	573	79	45	SUCCESS
FAT3	120114	.	GRCh37	11	92086129	92086129	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	63	233	1	ENST00000298047.6:c.851T>C	p.Val284Ala	p.V284A	ENST00000298047		284	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	851	RADIA|VARSCANS	.	TGCAGTGGTGA	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.196)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Val284Ala,ENST00000541502,;FAT3,missense_variant,p.Val284Ala,ENST00000298047,;FAT3,missense_variant,p.Val284Ala,ENST00000409404,;FAT3,missense_variant,p.Val134Ala,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	868	234	177	SUCCESS
FAM76B	143684	.	GRCh37	11	95522613	95522613	+	synonymous_variant	Silent	SNP	G	G	T	rs767977647	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	49	0	ENST00000358780.5:c.30C>A	p.Thr10=	p.T10=	ENST00000358780	NM_144664.4	10	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41700.1	30	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTGGTGCA	NONE	.	.	hmmpanther:PTHR22875:SF9,hmmpanther:PTHR22875	.	.	ENSP00000351631	.	1/10	.	.	.	.	.	.	.	.	rs767977647	1/10	PASS	ENST00000358780	Transcript	.	.	ENSG00000077458	28492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA76B_HUMAN	FAM76B	HGNC	.	.	UPI0000D62675	SNV	FAM76B,synonymous_variant,p.%3D,ENST00000536839,;FAM76B,synonymous_variant,p.%3D,ENST00000358780,;FAM76B,intron_variant,,ENST00000540054,;FAM76B,intron_variant,,ENST00000542135,;CEP57,upstream_gene_variant,,ENST00000538658,;CEP57,upstream_gene_variant,,ENST00000325542,;CEP57,upstream_gene_variant,,ENST00000537677,;FAM76B,upstream_gene_variant,,ENST00000537749,;CEP57,upstream_gene_variant,,ENST00000544522,;CEP57,upstream_gene_variant,,ENST00000541365,;CEP57,upstream_gene_variant,,ENST00000325486,;FAM76B,upstream_gene_variant,,ENST00000538047,;FAM76B,synonymous_variant,p.%3D,ENST00000398187,;FAM76B,synonymous_variant,p.%3D,ENST00000538316,;FAM76B,synonymous_variant,p.%3D,ENST00000543641,;FAM76B,non_coding_transcript_exon_variant,,ENST00000545654,;CEP57,upstream_gene_variant,,ENST00000538095,;CEP57,upstream_gene_variant,,ENST00000539855,;CEP57,upstream_gene_variant,,ENST00000540830,;CEP57,upstream_gene_variant,,ENST00000535497,;	343	49	59	SUCCESS
CCDC63	160762	.	GRCh37	12	111342552	111342552	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	161	0	ENST00000308208.5:c.1503C>T	p.Pro501=	p.P501=	ENST00000308208	NM_152591.1	501	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9151.1	1503	RADIA|MUTECT|MUSE	.	ATCCCCCCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21694:SF20,hmmpanther:PTHR21694	.	.	ENSP00000312399	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000308208	Transcript	.	.	ENSG00000173093	26669	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD63_HUMAN	CCDC63	HGNC	G3V217_HUMAN,B4DY03_HUMAN	.	UPI000006F794	SNV	CCDC63,synonymous_variant,p.%3D,ENST00000308208,;CCDC63,synonymous_variant,p.%3D,ENST00000552694,;CCDC63,synonymous_variant,p.%3D,ENST00000545036,;	1745	161	105	SUCCESS
DENND5B	160518	.	GRCh37	12	31586176	31586176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	90	0	ENST00000389082.5:c.2019G>T	p.Trp673Cys	p.W673C	ENST00000389082	NM_144973.3	673	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS44857.1	2019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCCAGCG	NONE	.	.	hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877	.	.	ENSP00000373734	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	tolerated(0.21)	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,missense_variant,p.Trp708Cys,ENST00000536562,;DENND5B,missense_variant,p.Trp708Cys,ENST00000306833,;DENND5B,missense_variant,p.Trp673Cys,ENST00000389082,;DENND5B,missense_variant,p.Trp695Cys,ENST00000354285,;	2284	90	77	SUCCESS
PARP11	57097	.	GRCh37	12	3931251	3931251	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	92	1	ENST00000228820.4:c.417G>T	p.Gln139His	p.Q139H	ENST00000228820	NM_020367.4	139	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS8523.2	417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTGATA	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF10,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	.	.	ENSP00000228820	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000228820	Transcript	.	.	ENSG00000111224	1186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PAR11_HUMAN	PARP11	HGNC	.	.	UPI0000374D35	SNV	PARP11,missense_variant,p.Gln139His,ENST00000228820,;PARP11,missense_variant,p.Gln58His,ENST00000447133,;PARP11,missense_variant,p.Gln132His,ENST00000397096,;PARP11,missense_variant,p.Gln58His,ENST00000427057,;PARP11,upstream_gene_variant,,ENST00000476985,;PARP11,missense_variant,p.Gln139His,ENST00000453942,;PARP11,missense_variant,p.Gln139His,ENST00000416739,;PARP11,splice_region_variant,,ENST00000458162,;	562	93	74	SUCCESS
SLC38A1	81539	.	GRCh37	12	46601366	46601366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	102	0	ENST00000398637.5:c.427G>A	p.Gly143Ser	p.G143S	ENST00000398637	NM_030674.3	143	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS41774.1	427	MUTECT|MUSE|VARSCANS	.	GGTGCCAAAGA	NONE	.	.	hmmpanther:PTHR22950:SF184,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000381634	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000398637	Transcript	.	.	ENSG00000111371	13447	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S38A1_HUMAN	SLC38A1	HGNC	Q8NCD8_HUMAN,F8VX12_HUMAN	.	UPI000004D33C	SNV	SLC38A1,missense_variant,p.Gly143Ser,ENST00000549049,;SLC38A1,missense_variant,p.Gly143Ser,ENST00000398637,;SLC38A1,missense_variant,p.Gly143Ser,ENST00000546893,;SLC38A1,missense_variant,p.Gly143Ser,ENST00000552197,;SLC38A1,missense_variant,p.Gly143Ser,ENST00000439706,;SLC38A1,non_coding_transcript_exon_variant,,ENST00000551506,;SLC38A1,non_coding_transcript_exon_variant,,ENST00000549633,;	1122	102	73	SUCCESS
NXPH4	11247	.	GRCh37	12	57618996	57618996	+	synonymous_variant	Silent	SNP	T	T	C	rs938734255	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	58	1	ENST00000349394.5:c.393T>C	p.His131=	p.H131=	ENST00000349394	NM_007224.3	131	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS8933.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCATGTGAA	NONE	.	.	hmmpanther:PTHR17103:SF10,hmmpanther:PTHR17103,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000333593	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000349394	Transcript	.	.	ENSG00000182379	8078	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXPH4_HUMAN	NXPH4	HGNC	.	.	UPI000004C619	SNV	NXPH4,synonymous_variant,p.%3D,ENST00000349394,;SHMT2,upstream_gene_variant,,ENST00000414700,;SHMT2,upstream_gene_variant,,ENST00000557487,;SHMT2,upstream_gene_variant,,ENST00000553529,;SHMT2,upstream_gene_variant,,ENST00000328923,;SHMT2,upstream_gene_variant,,ENST00000556689,;SHMT2,upstream_gene_variant,,ENST00000557703,;SHMT2,upstream_gene_variant,,ENST00000554310,;SHMT2,upstream_gene_variant,,ENST00000555634,;Y_RNA,upstream_gene_variant,,ENST00000365197,;NXPH4,non_coding_transcript_exon_variant,,ENST00000555154,;SHMT2,upstream_gene_variant,,ENST00000557740,;SHMT2,upstream_gene_variant,,ENST00000554600,;NXPH4,3_prime_UTR_variant,,ENST00000556415,;SHMT2,upstream_gene_variant,,ENST00000557433,;SHMT2,upstream_gene_variant,,ENST00000557302,;SHMT2,upstream_gene_variant,,ENST00000557348,;SHMT2,upstream_gene_variant,,ENST00000555563,;SHMT2,upstream_gene_variant,,ENST00000556825,;SHMT2,upstream_gene_variant,,ENST00000553950,;SHMT2,upstream_gene_variant,,ENST00000557269,;SHMT2,upstream_gene_variant,,ENST00000553324,;SHMT2,upstream_gene_variant,,ENST00000554467,;	568	59	54	SUCCESS
SACS	26278	.	GRCh37	13	23907796	23907796	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	63	1	ENST00000382292.3:c.10219C>T	p.Leu3407=	p.L3407=	ENST00000382292		3407	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9300.2	10219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAGAATTT	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	COSM1365880,COSM1365879	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,synonymous_variant,p.%3D,ENST00000382292,;SACS,synonymous_variant,p.%3D,ENST00000402364,;SACS,synonymous_variant,p.%3D,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	10808	64	53	SUCCESS
SPATA13	221178	.	GRCh37	13	24864810	24864810	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	70	248	0	ENST00000382095.4:c.993T>C	p.Tyr331=	p.Y331=	ENST00000382095	NM_153023.2	331	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS53857.1	2868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTATTCCGA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000398560	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,synonymous_variant,p.%3D,ENST00000382108,;SPATA13,synonymous_variant,p.%3D,ENST00000382095,;SPATA13,synonymous_variant,p.%3D,ENST00000409126,;SPATA13,synonymous_variant,p.%3D,ENST00000399949,;SPATA13,synonymous_variant,p.%3D,ENST00000343003,;SPATA13,synonymous_variant,p.%3D,ENST00000424834,;SPATA13,synonymous_variant,p.%3D,ENST00000434675,;SPATA13,downstream_gene_variant,,ENST00000454083,;RP11-307N16.6,synonymous_variant,p.%3D,ENST00000382141,;	3341	248	172	SUCCESS
USPL1	10208	.	GRCh37	13	31205167	31205167	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs757350183	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	65	0	ENST00000255304.4:c.424A>T	p.Asn142Tyr	p.N142Y	ENST00000255304	NM_005800.4	142	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS9336.1	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATAATGGA	NONE	.	.	hmmpanther:PTHR15294	.	.	ENSP00000255304	.	4/9	.	.	.	.	.	.	.	.	rs757350183	4/9	PASS	ENST00000255304	Transcript	.	.	ENSG00000132952	20294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	deleterious(0.02)	.	USPL1_HUMAN	USPL1	HGNC	.	.	UPI000013CEA3	SNV	USPL1,missense_variant,p.Asn142Tyr,ENST00000255304,;USPL1,non_coding_transcript_exon_variant,,ENST00000465952,;	766	65	65	SUCCESS
PCDH17	27253	.	GRCh37	13	58298754	58298754	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	85	0	ENST00000377918.3:c.2806G>T	p.Glu936Ter	p.E936*	ENST00000377918	NM_001040429.2	936	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31986.1	2806	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGAGTGT	NONE	.	.	.	.	.	ENSP00000367151	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,stop_gained,p.Glu936Ter,ENST00000377918,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	2832	85	82	SUCCESS
SOX21	11166	.	GRCh37	13	95364066	95364066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	56	150	0	ENST00000376945.2:c.238C>T	p.Arg80Trp	p.R80W	ENST00000376945	NM_007084.2	80	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9473.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCGGCC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF47095,Gene3D:1.10.30.10,Pfam_domain:PF12336,hmmpanther:PTHR10270:SF207,hmmpanther:PTHR10270	.	.	ENSP00000366144	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000376945	Transcript	.	.	ENSG00000125285	11197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SOX21_HUMAN	SOX21	HGNC	.	.	UPI000003F547	SNV	SOX21,missense_variant,p.Arg80Trp,ENST00000376945,;SOX21-AS1,upstream_gene_variant,,ENST00000438290,;	324	150	137	SUCCESS
SPTB	6710	.	GRCh37	14	65260364	65260364	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	70	221	0	ENST00000389721.5:c.2017C>T	p.Leu673Phe	p.L673F	ENST00000389721	NM_000347.5	673	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS32099.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGCACAC	NONE	.	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	.	.	ENSP00000374372	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.47)	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,missense_variant,p.Leu673Phe,ENST00000389721,;SPTB,missense_variant,p.Leu673Phe,ENST00000556626,;SPTB,missense_variant,p.Leu673Phe,ENST00000389722,;SPTB,missense_variant,p.Leu673Phe,ENST00000542895,;SPTB,missense_variant,p.Leu673Phe,ENST00000389720,;	2071	221	165	SUCCESS
DCAF5	8816	.	GRCh37	14	69522154	69522154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	53	163	0	ENST00000341516.5:c.1249G>T	p.Ala417Ser	p.A417S	ENST00000341516	NM_003861.2	417	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32106.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCCATCA	NONE	.	.	hmmpanther:PTHR15574	.	.	ENSP00000341351	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341516	Transcript	.	.	ENSG00000139990	20224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.03)	.	DCAF5_HUMAN	DCAF5	HGNC	Q8NCX5_HUMAN	.	UPI00001C1F66	SNV	DCAF5,missense_variant,p.Ala335Ser,ENST00000554215,;DCAF5,missense_variant,p.Ala416Ser,ENST00000557386,;DCAF5,missense_variant,p.Ala417Ser,ENST00000341516,;DCAF5,missense_variant,p.Ala335Ser,ENST00000556847,;DCAF5,non_coding_transcript_exon_variant,,ENST00000553293,;	1397	163	113	SUCCESS
NEK9	91754	.	GRCh37	14	75585605	75585605	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	48	0	ENST00000238616.5:c.558G>T	p.Lys186Asn	p.K186N	ENST00000238616	NM_033116.4	186	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9839.1	558	RADIA|MUSE	.	TTTGCCTTGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000238616	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	SNV	NEK9,missense_variant,p.Lys68Asn,ENST00000553823,;NEK9,missense_variant,p.Lys186Asn,ENST00000238616,;NEK9,missense_variant,p.Lys68Asn,ENST00000557673,;NEK9,3_prime_UTR_variant,,ENST00000554258,;NEK9,non_coding_transcript_exon_variant,,ENST00000555961,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,downstream_gene_variant,,ENST00000553945,;NEK9,upstream_gene_variant,,ENST00000557026,;HIF1AP1,upstream_gene_variant,,ENST00000553642,;	717	48	38	SUCCESS
NPAP1	23742	.	GRCh37	15	24923341	24923341	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	67	0	ENST00000329468.2:c.2327C>A	p.Ala776Asp	p.A776D	ENST00000329468	NM_018958.2	776	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS10015.1	2327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCCCTG	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.31)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Ala776Asp,ENST00000329468,;	2801	68	51	SUCCESS
ATP10A	57194	.	GRCh37	15	25924907	25924907	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	55	0	ENST00000356865.6:c.4081G>A	p.Val1361Ile	p.V1361I	ENST00000356865	NM_024490.3	1361	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS32178.1	4081	RADIA|MUSE	.	GCAGACCGGCT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43	.	.	ENSP00000349325	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	deleterious(0.03)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Val1361Ile,ENST00000356865,;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;	4193	55	35	SUCCESS
HERC2	8924	.	GRCh37	15	28491165	28491165	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	119	0	ENST00000261609.7:c.3439A>G	p.Lys1147Glu	p.K1147E	ENST00000261609	NM_004667.5	1147	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10021.1	3439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTACTGA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	23/93	.	.	.	.	.	.	.	.	.	23/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Lys1147Glu,ENST00000261609,;	3548	119	101	SUCCESS
CSNK1G1	53944	.	GRCh37	15	64508895	64508895	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	57	217	0	ENST00000303052.7:c.310G>A	p.Val104Met	p.V104M	ENST00000303052	NM_022048.3	104	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS10192.2	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACCTGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF132,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000305777	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000303052	Transcript	.	.	ENSG00000169118	2454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KC1G1_HUMAN	CSNK1G1	HGNC	U3KQP7_HUMAN	.	UPI000003F575	SNV	CSNK1G1,missense_variant,p.Val104Met,ENST00000607537,;CSNK1G1,missense_variant,p.Val104Met,ENST00000303052,;CTD-2116N17.1,missense_variant,p.Val77Met,ENST00000606793,;CSNK1G1,missense_variant,p.Val104Met,ENST00000303032,;CTD-2116N17.1,intron_variant,,ENST00000561349,;CSNK1G1,missense_variant,p.Val104Met,ENST00000606225,;	734	217	134	SUCCESS
MYO9A	4649	.	GRCh37	15	72189982	72189982	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	106	266	1	ENST00000356056.5:c.4862C>G	p.Ser1621Cys	p.S1621C	ENST00000356056	NM_006901.3	1621	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS10239.1	4862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGGATAAT	NONE	.	.	hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140	.	.	ENSP00000348349	.	25/42	.	.	.	.	.	.	.	.	.	25/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious_low_confidence(0.03)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.Ser400Cys,ENST00000561618,;MYO9A,missense_variant,p.Ser1621Cys,ENST00000424560,;MYO9A,missense_variant,p.Ser1621Cys,ENST00000564571,;MYO9A,missense_variant,p.Ser1241Cys,ENST00000566885,;MYO9A,missense_variant,p.Ser1621Cys,ENST00000356056,;MYO9A,missense_variant,p.Ser1602Cys,ENST00000444904,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000568781,;	5335	267	246	SUCCESS
BLM	641	.	GRCh37	15	91346865	91346865	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	37	162	1	ENST00000355112.3:c.3473A>G	p.Asp1158Gly	p.D1158G	ENST00000355112	NM_000057.2	1158	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS10363.1	3473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGACTTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF70,Gene3D:1.10.10.10,Pfam_domain:PF09382,SMART_domains:SM00956,Superfamily_domains:SSF46785	.	.	ENSP00000347232	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000355112	Transcript	1	.	ENSG00000197299	1058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	BLM_HUMAN	BLM	HGNC	.	.	UPI00001269FA	SNV	BLM,missense_variant,p.Asp1158Gly,ENST00000355112,;BLM,intron_variant,,ENST00000560509,;BLM,non_coding_transcript_exon_variant,,ENST00000560136,;BLM,3_prime_UTR_variant,,ENST00000559724,;BLM,non_coding_transcript_exon_variant,,ENST00000558825,;	3591	163	114	SUCCESS
TELO2	9894	.	GRCh37	16	1545384	1545384	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	19	0	ENST00000262319.6:c.373G>C	p.Ala125Pro	p.A125P	ENST00000262319	NM_016111.3	125	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS32363.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGCTGGCCAGA	NONE	.	.	hmmpanther:PTHR15830	.	.	ENSP00000262319	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000262319	Transcript	.	.	ENSG00000100726	29099	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.391)	.	deleterious(0.02)	.	TELO2_HUMAN	TELO2	HGNC	.	.	UPI000016961D	SNV	TELO2,missense_variant,p.Ala125Pro,ENST00000262319,;TELO2,missense_variant,p.Ala125Pro,ENST00000497339,;	652	19	13	SUCCESS
TBL3	10607	.	GRCh37	16	2026901	2026901	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755944498	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	182	0	ENST00000568546.1:c.1379C>T	p.Thr460Ile	p.T460I	ENST00000568546	NM_006453.2	460	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS10453.1	1379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACACAGCCC	NONE	byFrequency	.	Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294	.	.	ENSP00000454836	.	14/22	.	.	.	.	.	.	.	.	rs755944498	14/22	PASS	ENST00000568546	Transcript	.	.	ENSG00000183751	11587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.22)	.	TBL3_HUMAN	TBL3	HGNC	A0JLS5_HUMAN	.	UPI000006F172	SNV	TBL3,missense_variant,p.Thr460Ile,ENST00000568546,;TBL3,missense_variant,p.Thr349Ile,ENST00000332704,;AC005606.1,upstream_gene_variant,,ENST00000598236,;NOXO1,downstream_gene_variant,,ENST00000354249,;NOXO1,downstream_gene_variant,,ENST00000567471,;NOXO1,downstream_gene_variant,,ENST00000566005,;NOXO1,downstream_gene_variant,,ENST00000397280,;NOXO1,downstream_gene_variant,,ENST00000356120,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;TBL3,non_coding_transcript_exon_variant,,ENST00000569792,;TBL3,non_coding_transcript_exon_variant,,ENST00000564171,;TBL3,downstream_gene_variant,,ENST00000561907,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000567615,;NOXO1,downstream_gene_variant,,ENST00000569739,;	1507	182	101	SUCCESS
TAOK2	9344	.	GRCh37	16	29994582	29994582	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1462713646	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	55	0	ENST00000308893.4:c.1189C>T	p.Arg397Trp	p.R397W	ENST00000308893	NM_016151.3	397	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10663.1	1189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCCGGGAG	NONE	.	.	hmmpanther:PTHR24361:SF188,hmmpanther:PTHR24361	.	.	ENSP00000310094	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000308893	Transcript	.	.	ENSG00000149930	16835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.586)	.	deleterious_low_confidence(0.02)	.	TAOK2_HUMAN	TAOK2	HGNC	.	.	UPI000013EDDA	SNV	TAOK2,missense_variant,p.Arg224Trp,ENST00000416441,;TAOK2,missense_variant,p.Arg397Trp,ENST00000543033,;TAOK2,missense_variant,p.Arg397Trp,ENST00000279394,;TAOK2,missense_variant,p.Arg397Trp,ENST00000308893,;TAOK2,upstream_gene_variant,,ENST00000566552,;	2232	55	50	SUCCESS
ZNF423	23090	.	GRCh37	16	49671538	49671538	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	105	1	ENST00000262383.2:c.1525A>C	p.Asn509His	p.N509H	ENST00000262383		509	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS32445.1	1525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTTGGCGT	NONE	.	.	hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385,Superfamily_domains:SSF57667	.	.	ENSP00000455426	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	tolerated(0.19)	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,missense_variant,p.Asn509His,ENST00000262383,;ZNF423,missense_variant,p.Asn449His,ENST00000563137,;ZNF423,missense_variant,p.Asn449His,ENST00000562520,;ZNF423,missense_variant,p.Asn509His,ENST00000561648,;ZNF423,missense_variant,p.Asn392His,ENST00000567169,;ZNF423,missense_variant,p.Asn392His,ENST00000535559,;ZNF423,missense_variant,p.Asn449His,ENST00000562871,;	1579	106	76	SUCCESS
FAM192A	0	.	GRCh37	16	57197926	57197926	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs372644692	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	63	210	0	ENST00000309137.8:c.534T>A	p.Asp178Glu	p.D178E	ENST00000309137	NM_024946.2	178	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS42168.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCATCTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13495,hmmpanther:PTHR13495:SF0	.	.	ENSP00000335808	.	6/7	.	.	.	.	.	.	.	.	rs372644692	6/7	PASS	ENST00000309137	Transcript	.	.	ENSG00000172775	29856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.95)	.	F192A_HUMAN	FAM192A	HGNC	H3BUL4_HUMAN,H3BU93_HUMAN,H3BTP8_HUMAN,H3BTI2_HUMAN,H3BSY6_HUMAN,H3BSF0_HUMAN,H3BQQ6_HUMAN,H3BPH9_HUMAN,H3BPF9_HUMAN,H3BP64_HUMAN,H3BN22_HUMAN,H3BMX9_HUMAN	.	UPI000003620C	SNV	FAM192A,missense_variant,p.Asp101Glu,ENST00000566077,;FAM192A,missense_variant,p.Asp178Glu,ENST00000389447,;FAM192A,missense_variant,p.Asp178Glu,ENST00000309137,;FAM192A,missense_variant,p.Asp178Glu,ENST00000569266,;FAM192A,missense_variant,p.Asp178Glu,ENST00000564108,;FAM192A,missense_variant,p.Asp78Glu,ENST00000565956,;FAM192A,missense_variant,p.Asp178Glu,ENST00000567439,;FAM192A,downstream_gene_variant,,ENST00000565458,;FAM192A,downstream_gene_variant,,ENST00000562406,;FAM192A,downstream_gene_variant,,ENST00000566584,;FAM192A,downstream_gene_variant,,ENST00000567044,;FAM192A,downstream_gene_variant,,ENST00000562324,;FAM192A,3_prime_UTR_variant,,ENST00000566403,;	793	210	154	SUCCESS
CAPN15	6650	.	GRCh37	16	601376	601376	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	32	0	ENST00000219611.2:c.2141G>A	p.Arg714His	p.R714H	ENST00000219611	NM_005632.2	714	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10410.1	2141	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCTGCGCCCCC	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000219611	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000219611	Transcript	.	.	ENSG00000103326	11182	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	CAN15_HUMAN	CAPN15	HGNC	H3BR03_HUMAN	.	UPI0000071B68	SNV	CAPN15,missense_variant,p.Arg714His,ENST00000219611,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,downstream_gene_variant,,ENST00000562370,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	2504	32	13	SUCCESS
HYDIN	54768	.	GRCh37	16	70896085	70896085	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	169	0	ENST00000393567.2:c.11643C>G	p.His3881Gln	p.H3881Q	ENST00000393567	NM_001270974.1	3881	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS59269.1	11643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGTGGTC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	69/86	.	.	.	.	.	.	.	.	.	69/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.767)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.His3881Gln,ENST00000393567,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;HYDIN,intron_variant,,ENST00000546257,;	11794	169	100	SUCCESS
RBFOX1	54715	.	GRCh37	16	7568314	7568314	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	103	0	ENST00000547338.1:c.193C>T	p.Leu65=	p.L65=	ENST00000547338	NM_001142334.1	65	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10531.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACCTGTAC	NONE	.	.	hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8,PIRSF_domain:PIRSF037932	.	.	ENSP00000309117	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,synonymous_variant,p.%3D,ENST00000553186,;RBFOX1,synonymous_variant,p.%3D,ENST00000535565,;RBFOX1,synonymous_variant,p.%3D,ENST00000552089,;RBFOX1,synonymous_variant,p.%3D,ENST00000570626,;RBFOX1,synonymous_variant,p.%3D,ENST00000355637,;RBFOX1,synonymous_variant,p.%3D,ENST00000551752,;RBFOX1,synonymous_variant,p.%3D,ENST00000340209,;RBFOX1,synonymous_variant,p.%3D,ENST00000547605,;RBFOX1,synonymous_variant,p.%3D,ENST00000547338,;RBFOX1,synonymous_variant,p.%3D,ENST00000311745,;RBFOX1,synonymous_variant,p.%3D,ENST00000436368,;RBFOX1,synonymous_variant,p.%3D,ENST00000422070,;RBFOX1,synonymous_variant,p.%3D,ENST00000550418,;RBFOX1,synonymous_variant,p.%3D,ENST00000547372,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000569889,;	505	103	80	SUCCESS
PLCG2	5336	.	GRCh37	16	81925146	81925146	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748440029	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	76	312	0	ENST00000359376.3:c.937G>A	p.Asp313Asn	p.D313N	ENST00000359376	NM_002661.3	313	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS42204.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGACATG	NONE	.	.	Superfamily_domains:SSF51695,PIRSF_domain:PIRSF000952,SMART_domains:SM00148,Gene3D:3.20.20.190,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,PROSITE_profiles:PS50007	.	.	ENSP00000352336	.	11/33	.	.	.	.	.	.	.	.	rs748440029	11/33	PASS	ENST00000359376	Transcript	.	.	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.15)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Asp313Asn,ENST00000359376,;PLCG2,missense_variant,p.Asp83Asn,ENST00000563193,;PLCG2,non_coding_transcript_exon_variant,,ENST00000562605,;PLCG2,missense_variant,p.Asp5Asn,ENST00000563375,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000570198,;	1151	312	221	SUCCESS
ARHGAP44	9912	.	GRCh37	17	12852526	12852526	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	66	0	ENST00000379672.5:c.931G>A	p.Val311Met	p.V311M	ENST00000379672	NM_014859.4	311	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS45616.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGTGGAT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000368994	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000379672	Transcript	.	.	ENSG00000006740	29096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.16)	.	RHG44_HUMAN	ARHGAP44	HGNC	J3QQU7_HUMAN	.	UPI0000252116	SNV	ARHGAP44,missense_variant,p.Val311Met,ENST00000340825,;ARHGAP44,missense_variant,p.Val311Met,ENST00000379672,;ARHGAP44,missense_variant,p.Val311Met,ENST00000262444,;ARHGAP44,missense_variant,p.Val311Met,ENST00000544416,;ARHGAP44,3_prime_UTR_variant,,ENST00000580768,;ARHGAP44,upstream_gene_variant,,ENST00000538915,;	1231	66	59	SUCCESS
TEKT3	64518	.	GRCh37	17	15234365	15234365	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	86	0	ENST00000338696.2:c.538A>G	p.Arg180Gly	p.R180G	ENST00000338696		180	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS11169.1	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTTTTCT	NONE	.	.	hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF24,Pfam_domain:PF03148	.	.	ENSP00000379263	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000395930	Transcript	.	.	ENSG00000125409	14293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0.02)	.	TEKT3_HUMAN	TEKT3	HGNC	F5H5M8_HUMAN,F5H4K1_HUMAN,F5H115_HUMAN,F5GZV8_HUMAN	.	UPI0000136BAB	SNV	TEKT3,missense_variant,p.Arg14Gly,ENST00000539245,;TEKT3,missense_variant,p.Arg180Gly,ENST00000338696,;TEKT3,missense_variant,p.Arg180Gly,ENST00000395930,;TEKT3,downstream_gene_variant,,ENST00000539316,;TEKT3,downstream_gene_variant,,ENST00000536146,;TEKT3,downstream_gene_variant,,ENST00000543896,;TEKT3,missense_variant,p.Arg180Gly,ENST00000395931,;TEKT3,non_coding_transcript_exon_variant,,ENST00000470325,;	725	87	87	SUCCESS
CDK5R1	8851	.	GRCh37	17	30814788	30814788	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	82	308	0	ENST00000313401.3:c.150G>A	p.Leu50=	p.L50=	ENST00000313401	NM_003885.2	50	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11273.1	150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGCCTTG	NONE	.	.	PIRSF_domain:PIRSF009324,Pfam_domain:PF03261,hmmpanther:PTHR23401,hmmpanther:PTHR23401:SF2	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	SNV	CDK5R1,synonymous_variant,p.%3D,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000394649,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,upstream_gene_variant,,ENST00000584792,;PSMD11,downstream_gene_variant,,ENST00000261712,;CDK5R1,upstream_gene_variant,,ENST00000584716,;	839	308	233	SUCCESS
DNAI2	64446	.	GRCh37	17	72281284	72281284	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1162719665	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	189	0	ENST00000311014.6:c.289C>T	p.Arg97Trp	p.R97W	ENST00000311014		97	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11697.1	289	MUTECT|MUSE	.	GTTTCCGGAAG	NONE	.	.	hmmpanther:PTHR12442	.	.	ENSP00000400252	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446837	Transcript	.	.	ENSG00000171595	18744	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	DNAI2_HUMAN	DNAI2	HGNC	.	.	UPI000013EC1D	SNV	DNAI2,missense_variant,p.Arg97Trp,ENST00000446837,;DNAI2,missense_variant,p.Arg97Trp,ENST00000582036,;DNAI2,missense_variant,p.Arg154Trp,ENST00000579490,;DNAI2,missense_variant,p.Arg97Trp,ENST00000311014,;DNAI2,5_prime_UTR_variant,,ENST00000307504,;DNAI2,missense_variant,p.Arg97Trp,ENST00000579055,;	595	189	120	SUCCESS
DNAH2	146754	.	GRCh37	17	7726895	7726895	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	72	231	0	ENST00000389173.2:c.11278G>T	p.Asp3760Tyr	p.D3760Y	ENST00000389173	NM_020877.2	3760	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS32551.1	11278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGACTGG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF03028	.	.	ENSP00000458355	.	74/86	.	.	.	.	.	.	.	.	.	74/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Asp3760Tyr,ENST00000389173,;DNAH2,missense_variant,p.Asp3760Tyr,ENST00000572933,;DNAH2,missense_variant,p.Asp709Tyr,ENST00000575105,;	12738	231	195	SUCCESS
CXADRP3	440224	.	GRCh37	18	14478332	14478332	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	45	298	0	ENST00000581457.1:n.1577G>A		p.*526*	ENST00000581457				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	TATCCCTCCAT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000581457	Transcript	.	.	ENSG00000265766	33974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CXADRP3	HGNC	.	.	.	SNV	CXADRP3,non_coding_transcript_exon_variant,,ENST00000581457,;	1577	298	170	SUCCESS
ZNF440	126070	.	GRCh37	19	11942559	11942559	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	75	213	1	ENST00000304060.5:c.568C>G	p.His190Asp	p.H190D	ENST00000304060	NM_152357.2	190	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS42503.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACACATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF35,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000305373	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304060	Transcript	.	.	ENSG00000171295	20874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ZN440_HUMAN	ZNF440	HGNC	K7EJ55_HUMAN,C9JG89_HUMAN	.	UPI0000074249	SNV	ZNF440,missense_variant,p.His190Asp,ENST00000304060,;ZNF440,missense_variant,p.His193Asp,ENST00000427505,;ZNF440,downstream_gene_variant,,ENST00000457526,;ZNF440,downstream_gene_variant,,ENST00000588954,;ZNF440,downstream_gene_variant,,ENST00000414255,;	732	215	168	SUCCESS
CIRBP	1153	.	GRCh37	19	1271158	1271158	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	76	362	0	ENST00000320936.5:c.123G>C	p.Arg41Ser	p.R41S	ENST00000320936	NM_001280.2	41	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS12059.1	123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGGAGAC	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,SMART_domains:SM00361,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR24012:SF269,hmmpanther:PTHR24012,PROSITE_profiles:PS50102	.	.	ENSP00000468788	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000588030	Transcript	.	.	ENSG00000099622	1982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CIRBP_HUMAN	CIRBP	HGNC	Q53XX5_HUMAN,K7EQX4_HUMAN,K7EMY9_HUMAN,K7ELV6_HUMAN,K7EJV5_HUMAN	.	UPI00001279F8	SNV	CIRBP,missense_variant,p.Arg41Ser,ENST00000589660,;CIRBP,missense_variant,p.Arg41Ser,ENST00000586773,;CIRBP,missense_variant,p.Arg41Ser,ENST00000591935,;CIRBP,missense_variant,p.Arg41Ser,ENST00000586548,;CIRBP,missense_variant,p.Arg41Ser,ENST00000588344,;CIRBP,missense_variant,p.Arg41Ser,ENST00000588230,;CIRBP,missense_variant,p.Arg41Ser,ENST00000589710,;CIRBP,missense_variant,p.Arg41Ser,ENST00000320936,;CIRBP,missense_variant,p.Arg41Ser,ENST00000589235,;CIRBP,missense_variant,p.Arg41Ser,ENST00000587323,;CIRBP,missense_variant,p.Arg41Ser,ENST00000587896,;CIRBP,missense_variant,p.Arg41Ser,ENST00000589686,;CIRBP,missense_variant,p.Arg41Ser,ENST00000585630,;CIRBP,missense_variant,p.Arg41Ser,ENST00000591659,;CIRBP,missense_variant,p.Arg41Ser,ENST00000413636,;CIRBP,missense_variant,p.Arg41Ser,ENST00000588090,;CIRBP,missense_variant,p.Arg41Ser,ENST00000588411,;CIRBP,missense_variant,p.Arg41Ser,ENST00000589266,;CIRBP,missense_variant,p.Arg41Ser,ENST00000586472,;CIRBP,missense_variant,p.Arg41Ser,ENST00000588030,;CIRBP,intron_variant,,ENST00000444172,;CIRBP,downstream_gene_variant,,ENST00000592815,;C19orf24,upstream_gene_variant,,ENST00000409293,;C19orf24,upstream_gene_variant,,ENST00000469144,;CIRBP,downstream_gene_variant,,ENST00000592051,;CIRBP-AS1,upstream_gene_variant,,ENST00000585832,;CIRBP-AS1,upstream_gene_variant,,ENST00000600215,;CIRBP,upstream_gene_variant,,ENST00000590188,;C19orf24,upstream_gene_variant,,ENST00000590269,;CIRBP,missense_variant,p.Arg41Ser,ENST00000591055,;CIRBP,missense_variant,p.Gly48Arg,ENST00000590171,;CIRBP,missense_variant,p.Arg41Ser,ENST00000590347,;CIRBP,missense_variant,p.Arg41Ser,ENST00000585914,;CIRBP,missense_variant,p.Arg41Ser,ENST00000586636,;CIRBP,missense_variant,p.Arg41Ser,ENST00000585913,;CIRBP,missense_variant,p.Gly48Arg,ENST00000591097,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593283,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593093,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593128,;CIRBP,non_coding_transcript_exon_variant,,ENST00000590704,;CIRBP,intron_variant,,ENST00000593048,;CIRBP,intron_variant,,ENST00000591376,;CIRBP,intron_variant,,ENST00000587169,;CIRBP,intron_variant,,ENST00000592412,;CIRBP,upstream_gene_variant,,ENST00000587812,;C19orf24,upstream_gene_variant,,ENST00000485191,;CIRBP,upstream_gene_variant,,ENST00000592234,;CIRBP,upstream_gene_variant,,ENST00000588917,;CIRBP,upstream_gene_variant,,ENST00000586555,;	383	363	238	SUCCESS
MAST1	22983	.	GRCh37	19	12969450	12969450	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	59	151	1	ENST00000251472.4:c.1263G>A	p.Val421=	p.V421=	ENST00000251472	NM_014975.2	421	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS32921.1	1263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTGGAGCG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150,PROSITE_profiles:PS50011	.	.	ENSP00000251472	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000251472	Transcript	.	.	ENSG00000105613	19034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAST1_HUMAN	MAST1	HGNC	.	.	UPI000004A042	SNV	MAST1,synonymous_variant,p.%3D,ENST00000591495,;MAST1,synonymous_variant,p.%3D,ENST00000588379,;MAST1,synonymous_variant,p.%3D,ENST00000251472,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000589040,;	1302	152	147	SUCCESS
ADAMTSL5	339366	.	GRCh37	19	1506875	1506875	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1034922927	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	87	1	ENST00000330475.4:c.905G>A	p.Arg302Gln	p.R302Q	ENST00000330475	NM_213604.2	302	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12071.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGAGGG	NONE	.	.	hmmpanther:PTHR13723:SF146,hmmpanther:PTHR13723	.	.	ENSP00000327608	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000330475	Transcript	.	.	ENSG00000185761	27912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.22)	.	ATL5_HUMAN	ADAMTSL5	HGNC	A4QPG6_HUMAN	.	UPI00001D8216	SNV	ADAMTSL5,missense_variant,p.Arg90Gln,ENST00000590090,;ADAMTSL5,missense_variant,p.Arg71Gln,ENST00000395467,;ADAMTSL5,missense_variant,p.Arg302Gln,ENST00000330475,;ADAMTSL5,missense_variant,p.Arg312Gln,ENST00000413997,;CTB-25B13.9,upstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590562,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,downstream_gene_variant,,ENST00000585804,;ADAMTSL5,downstream_gene_variant,,ENST00000586272,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590682,;ADAMTSL5,downstream_gene_variant,,ENST00000587828,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;ADAMTSL5,downstream_gene_variant,,ENST00000589839,;	1349	88	82	SUCCESS
CILP2	148113	.	GRCh37	19	19655986	19655986	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	13	1	ENST00000291495.5:c.2632G>A	p.Val878Met	p.V878M	ENST00000291495	NM_153221.2	878	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS12405.1	2632	MUTECT|MUSE	.	GGCCTGTGTAC	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.729)	.	deleterious(0)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Val878Met,ENST00000291495,;CILP2,missense_variant,p.Val884Met,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	2717	14	13	SUCCESS
LTBP4	8425	.	GRCh37	19	41133674	41133674	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	13	0	ENST00000308370.7:c.4629C>T	p.Thr1543=	p.T1543=	ENST00000308370	NM_001042544.1	1543	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	.	4629	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGCACCAACGG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026	.	.	ENSP00000311905	.	33/34	.	.	.	.	.	.	.	.	.	33/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,synonymous_variant,p.%3D,ENST00000396819,;LTBP4,synonymous_variant,p.%3D,ENST00000204005,;LTBP4,synonymous_variant,p.%3D,ENST00000308370,;LTBP4,3_prime_UTR_variant,,ENST00000545697,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000599724,;LTBP4,downstream_gene_variant,,ENST00000601032,;LTBP4,downstream_gene_variant,,ENST00000593463,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000599225,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598166,;LTBP4,downstream_gene_variant,,ENST00000597603,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,downstream_gene_variant,,ENST00000597816,;LTBP4,downstream_gene_variant,,ENST00000598178,;LTBP4,downstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000595665,;LTBP4,downstream_gene_variant,,ENST00000594116,;LTBP4,downstream_gene_variant,,ENST00000597151,;LTBP4,downstream_gene_variant,,ENST00000594266,;	4629	13	13	SUCCESS
DHX34	9704	.	GRCh37	19	47861354	47861354	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	45	0	ENST00000328771.4:c.1249C>T	p.Leu417=	p.L417=	ENST00000328771	NM_014681.5	417	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12700.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCCTGTCT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF110,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000331907	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000328771	Transcript	.	.	ENSG00000134815	16719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX34_HUMAN	DHX34	HGNC	.	.	UPI0000202759	SNV	DHX34,synonymous_variant,p.%3D,ENST00000328771,;DHX34,non_coding_transcript_exon_variant,,ENST00000471451,;	1598	45	32	SUCCESS
ETFB	2109	.	GRCh37	19	51857606	51857606	+	intron_variant	Intron	SNP	C	C	T	rs776379865	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	95	0	ENST00000309244.4:c.58-44G>A		p.*20*	ENST00000309244	NM_001985.2	96		0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS33085.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGCAAGAA	NONE	byFrequency	.	.	.	.	ENSP00000346173	.	1/5	.	.	.	.	.	.	.	.	rs776379865	1/5	PASS	ENST00000354232	Transcript	1	.	ENSG00000105379	3482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious_low_confidence(0.01)	.	ETFB_HUMAN	ETFB	HGNC	.	.	UPI00001A8223	SNV	ETFB,missense_variant,p.Cys96Tyr,ENST00000354232,;ETFB,intron_variant,,ENST00000596253,;ETFB,intron_variant,,ENST00000309244,;CTD-2616J11.9,downstream_gene_variant,,ENST00000600974,;ETFB,intron_variant,,ENST00000593992,;CTD-2616J11.11,intron_variant,,ENST00000600067,;	2755	95	42	SUCCESS
MUC16	94025	.	GRCh37	19	9085930	9085930	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs372101894	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	57	256	1	ENST00000397910.4:c.5885T>A	p.Met1962Lys	p.M1962K	ENST00000397910	NM_024690.2	1962	aTg/aAg	0	G:0.0002	.	.	.	.	T	M/K	protein_coding	YES	CCDS54212.1	5885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCATGGGT	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	rs372101894	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Met1962Lys,ENST00000397910,;	6089	257	174	SUCCESS
C1orf127	148345	.	GRCh37	1	11008624	11008624	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs755373283	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	11	145	0	ENST00000377004.4:c.1568del	p.Pro523ArgfsTer18	p.P523Rfs*18	ENST00000377004	NM_001170754.1	523	cCg/cg	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS53267.1	1568	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCTCGGGGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000366203	.	12/13	.	.	.	.	.	.	.	.	rs755373283,COSM1294682,COSM1294681	12/13	PASS	ENST00000377004	Transcript	.	.	ENSG00000175262	26730	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	.	C1orf127	HGNC	G8JLG8_HUMAN,B7ZLG7_HUMAN	.	UPI0001C0B385	deletion	C1orf127,frameshift_variant,p.Pro475ArgfsTer18,ENST00000520253,;C1orf127,frameshift_variant,p.Pro523ArgfsTer18,ENST00000377004,;C1orf127,frameshift_variant,p.Pro358ArgfsTer18,ENST00000418570,;C1orf127,frameshift_variant,p.Pro356ArgfsTer18,ENST00000377008,;C1orf127,upstream_gene_variant,,ENST00000468348,;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,;	1568	145	116	SUCCESS
AHCYL1	10768	.	GRCh37	1	110560140	110560140	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	137	0	ENST00000369799.5:c.987T>A	p.Ala329=	p.A329=	ENST00000369799	NM_001242674.1	329	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS818.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTCTCAA	NONE	.	.	hmmpanther:PTHR23420:SF3,hmmpanther:PTHR23420,TIGRFAM_domain:TIGR00936,Pfam_domain:PF00670,Gene3D:3.40.50.720,Pfam_domain:PF05221,SMART_domains:SM00996,PIRSF_domain:PIRSF001109,SMART_domains:SM00997,Superfamily_domains:SSF51735	.	.	ENSP00000358814	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000369799	Transcript	.	.	ENSG00000168710	344	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAHH2_HUMAN	AHCYL1	HGNC	Q9BTL0_HUMAN	.	UPI00000022AC	SNV	AHCYL1,synonymous_variant,p.%3D,ENST00000369799,;AHCYL1,synonymous_variant,p.%3D,ENST00000393614,;AHCYL1,synonymous_variant,p.%3D,ENST00000359172,;AHCYL1,non_coding_transcript_exon_variant,,ENST00000481423,;AHCYL1,upstream_gene_variant,,ENST00000469401,;AHCYL1,downstream_gene_variant,,ENST00000475081,;	1354	137	82	SUCCESS
SPTA1	6708	.	GRCh37	1	158604337	158604337	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	52	117	0	ENST00000368147.4:c.5561C>T	p.Thr1854Ile	p.T1854I	ENST00000368147	NM_003126.2	1854	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41423.1	5561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGTAGCA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	39/52	.	.	.	.	.	.	.	.	.	39/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	tolerated(0.18)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Thr1854Ile,ENST00000368147,;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	5742	117	125	SUCCESS
OR6N2	81442	.	GRCh37	1	158746653	158746653	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs757370165	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	345	116	308	0	ENST00000339258.1:c.773T>A	p.Met258Lys	p.M258K	ENST00000339258	NM_001005278.1	258	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS30906.1	773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACATGAAG	BUFFER|p.R261W|c.781C>T|3	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF68,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000344101	.	1/1	.	.	.	.	.	.	.	.	rs757370165	1/1	PASS	ENST00000339258	Transcript	.	.	ENSG00000188340	15035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	OR6N2_HUMAN	OR6N2	HGNC	.	.	UPI0000041C8E	SNV	OR6N2,missense_variant,p.Met258Lys,ENST00000339258,;	773	308	461	SUCCESS
CASQ1	844	.	GRCh37	1	160165717	160165717	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	25	123	0	ENST00000368078.3:c.682G>A	p.Glu228Lys	p.E228K	ENST00000368078		228	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1198.2	682	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGAGATT	BUFFER|p.E228G|c.683A>G|3	.	.	hmmpanther:PTHR10033:SF9,hmmpanther:PTHR10033,Pfam_domain:PF01216,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00312	.	.	ENSP00000357057	.	6/11	.	.	.	.	.	.	.	.	COSM1747861	6/11	PASS	ENST00000368078	Transcript	.	.	ENSG00000143318	1512	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.946)	.	deleterious(0)	1	CASQ1_HUMAN	CASQ1	HGNC	C9JAC8_HUMAN	.	UPI0000204B81	SNV	CASQ1,missense_variant,p.Glu222Lys,ENST00000368079,;CASQ1,missense_variant,p.Glu228Lys,ENST00000368078,;CASQ1,upstream_gene_variant,,ENST00000467691,;CASQ1,non_coding_transcript_exon_variant,,ENST00000481081,;	878	123	156	SUCCESS
RXRG	6258	.	GRCh37	1	165386378	165386378	+	synonymous_variant	Silent	SNP	C	C	A	rs200365240	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	330	83	300	0	ENST00000359842.5:c.522G>T	p.Thr174=	p.T174=	ENST00000359842	NM_001256570.1	174	acG/acT	0	T:0	T:0.0008	.	T:0	.	A	T	protein_coding	YES	CCDS1248.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACACGTGTA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF83,hmmpanther:PTHR24083,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716	T:0	T:0.0001	ENSP00000352900	T:0	4/10	.	.	.	.	.	.	.	.	rs200365240	4/10	PASS	ENST00000359842	Transcript	.	T:0.0002	ENSG00000143171	10479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RXRG_HUMAN	RXRG	HGNC	F1D8Q7_HUMAN	.	UPI000004989F	SNV	RXRG,synonymous_variant,p.%3D,ENST00000359842,;RXRG,non_coding_transcript_exon_variant,,ENST00000470566,;	825	300	414	SUCCESS
CRB1	23418	.	GRCh37	1	197316508	197316508	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	35	142	1	ENST00000367400.3:c.887C>T	p.Thr296Ile	p.T296I	ENST00000367400	NM_201253.2	296	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1390.1	887	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACACACT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24049,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000356370	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.2)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Thr227Ile,ENST00000535699,;CRB1,missense_variant,p.Thr296Ile,ENST00000538660,;CRB1,missense_variant,p.Thr296Ile,ENST00000367400,;CRB1,5_prime_UTR_variant,,ENST00000543483,;CRB1,intron_variant,,ENST00000367399,;CRB1,missense_variant,p.Thr296Ile,ENST00000484075,;CRB1,non_coding_transcript_exon_variant,,ENST00000475659,;	1022	143	209	SUCCESS
PKP1	5317	.	GRCh37	1	201282409	201282409	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	120	247	0	ENST00000263946.3:c.422G>T	p.Gly141Val	p.G141V	ENST00000263946	NM_000299.3	141	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS30966.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCAGCG	NONE	.	.	hmmpanther:PTHR10372:SF3,hmmpanther:PTHR10372	.	.	ENSP00000263946	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000263946	Transcript	.	.	ENSG00000081277	9023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PKP1_HUMAN	PKP1	HGNC	B4DRX5_HUMAN	.	UPI0000131B86	SNV	PKP1,missense_variant,p.Gly141Val,ENST00000352845,;PKP1,missense_variant,p.Gly141Val,ENST00000263946,;PKP1,missense_variant,p.Gly141Val,ENST00000367324,;PKP1,upstream_gene_variant,,ENST00000475988,;	673	247	288	SUCCESS
TMCC2	9911	.	GRCh37	1	205225489	205225489	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	22	150	1	ENST00000358024.3:c.748-12589T>C		p.*250*	ENST00000358024	NM_014858.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30984.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACTCACAG	NONE	.	.	.	.	.	ENSP00000350718	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358024	Transcript	.	.	ENSG00000133069	24239	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMCC2_HUMAN	TMCC2	HGNC	.	.	UPI00002056FC	SNV	TMCC2,missense_variant,p.Leu35Pro,ENST00000367159,;TMCC2,5_prime_UTR_variant,,ENST00000329800,;TMCC2,intron_variant,,ENST00000330675,;TMCC2,intron_variant,,ENST00000358024,;TMCC2,intron_variant,,ENST00000545499,;TMCC2,non_coding_transcript_exon_variant,,ENST00000468846,;TMCC2,intron_variant,,ENST00000495538,;TMCC2,upstream_gene_variant,,ENST00000481950,;	.	151	152	SUCCESS
CD46	4179	.	GRCh37	1	207940538	207940538	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	122	216	0	ENST00000358170.2:c.854A>C	p.Lys285Thr	p.K285T	ENST00000358170	NM_002389.4	285	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS1482.1	854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAAAGGTA	NONE	.	.	Superfamily_domains:SSF57535,PIRSF_domain:PIRSF037971,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,PROSITE_profiles:PS50923,Low_complexity_(Seg):seg	.	.	ENSP00000313875	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000322875	Transcript	.	.	ENSG00000117335	6953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	MCP_HUMAN	CD46	HGNC	Q06C42_HUMAN	.	UPI000015FF6E	SNV	CD46,missense_variant,p.Lys285Thr,ENST00000360212,;CD46,missense_variant,p.Lys285Thr,ENST00000322918,;CD46,missense_variant,p.Lys285Thr,ENST00000358170,;CD46,missense_variant,p.Lys285Thr,ENST00000354848,;CD46,missense_variant,p.Lys285Thr,ENST00000367042,;CD46,missense_variant,p.Lys222Thr,ENST00000367047,;CD46,missense_variant,p.Lys285Thr,ENST00000361067,;CD46,missense_variant,p.Lys285Thr,ENST00000441839,;CD46,missense_variant,p.Lys285Thr,ENST00000480003,;CD46,missense_variant,p.Lys285Thr,ENST00000357714,;CD46,missense_variant,p.Lys285Thr,ENST00000367041,;CD46,missense_variant,p.Lys285Thr,ENST00000322875,;CD46,upstream_gene_variant,,ENST00000462968,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,upstream_gene_variant,,ENST00000488596,;CD46,upstream_gene_variant,,ENST00000496723,;CD46,downstream_gene_variant,,ENST00000464082,;CD46,upstream_gene_variant,,ENST00000490278,;CD46,upstream_gene_variant,,ENST00000471987,;RP11-454L1.2,downstream_gene_variant,,ENST00000435216,;	1010	216	295	SUCCESS
LBR	3930	.	GRCh37	1	225594411	225594411	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1376867105	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	115	195	0	ENST00000272163.4:c.1438A>T	p.Asn480Tyr	p.N480Y	ENST00000272163	NM_002296.3	480	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS1545.1	1438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATTTGGAT	NONE	.	.	Pfam_domain:PF01222,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32	.	.	ENSP00000339883	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.15)	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	LBR,missense_variant,p.Asn480Tyr,ENST00000338179,;LBR,missense_variant,p.Asn111Tyr,ENST00000424022,;LBR,missense_variant,p.Asn480Tyr,ENST00000272163,;LBR,upstream_gene_variant,,ENST00000441022,;	1564	195	277	SUCCESS
OBSCN	84033	.	GRCh37	1	228451986	228451986	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	79	122	0	ENST00000422127.1:c.4755G>T	p.Val1585=	p.V1585=	ENST00000422127	NM_001098623.2	1585	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS59204.1	5307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGGGCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	18/116	.	.	.	.	.	.	.	.	.	18/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000359599,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;	5381	123	149	SUCCESS
OBSCN	84033	.	GRCh37	1	228467000	228467000	+	synonymous_variant	Silent	SNP	G	G	T	rs371761770	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	32	148	0	ENST00000422127.1:c.7251G>T	p.Thr2417=	p.T2417=	ENST00000422127	NM_001098623.2	2417	acG/acT	0	A:0	A:0.0015	.	A:0	.	T	T	protein_coding	YES	CCDS59204.1	8538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACGGTGTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	A:0	A:0.0001	ENSP00000455507	A:0	32/116	.	.	.	.	.	.	.	.	rs371761770,COSM1339626,COSM1339627,COSM1339628,COSM1339625	32/116	PASS	ENST00000570156	Transcript	.	A:0.0004	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	A:0	.	0,1,1,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000359599,;OBSCN,synonymous_variant,p.%3D,ENST00000366706,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	8612	148	166	SUCCESS
OR2T6	254879	.	GRCh37	1	248551789	248551789	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	294	71	340	1	ENST00000355728.2:c.880A>G	p.Asn294Asp	p.N294D	ENST00000355728	NM_001005471.1	294	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS31114.1	880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGAACAGG	CODON|p.R293R|c.879G>A|4	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,missense_variant,p.Asn294Asp,ENST00000355728,;	880	342	366	SUCCESS
OR2T34	127068	.	GRCh37	1	248737387	248737387	+	synonymous_variant	Silent	SNP	G	G	C	rs760863276	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	508	150	552	1	ENST00000328782.2:c.672C>G	p.Thr224=	p.T224=	ENST00000328782	NM_001001821.1	224	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31120.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGGTGTA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330904	.	1/1	.	.	.	.	.	.	.	.	rs760863276	1/1	PASS	ENST00000328782	Transcript	.	.	ENSG00000183310	31256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O2T34_HUMAN	OR2T34	HGNC	.	.	UPI0000061ED4	SNV	OR2T34,synonymous_variant,p.%3D,ENST00000328782,;	694	553	658	SUCCESS
IPO13	9670	.	GRCh37	1	44424562	44424562	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs771112995	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	40	176	1	ENST00000372343.3:c.2028+1G>A		p.X676_splice	ENST00000372343	NM_014652.3	676		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS503.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ACCCCGTGGGT	NONE	.	.	.	.	.	ENSP00000361418	.	.	.	.	.	.	.	.	.	.	rs771112995	.	PASS	ENST00000372343	Transcript	.	.	ENSG00000117408	16853	.	.	HIGH	11/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IPO13_HUMAN	IPO13	HGNC	.	.	UPI0000073F11	SNV	IPO13,splice_donor_variant,,ENST00000372343,;IPO13,downstream_gene_variant,,ENST00000492152,;IPO13,downstream_gene_variant,,ENST00000480902,;IPO13,downstream_gene_variant,,ENST00000489773,;	.	178	117	SUCCESS
RAVER2	55225	.	GRCh37	1	65270416	65270416	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	47	158	1	ENST00000294428.3:c.1192-1G>C		p.X398_splice	ENST00000294428		398		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41345.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGAGCTC	NONE	.	.	.	.	.	ENSP00000360112	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371072	Transcript	.	.	ENSG00000162437	25577	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAVR2_HUMAN	RAVER2	HGNC	.	.	UPI000043DED2	SNV	RAVER2,splice_acceptor_variant,,ENST00000294428,;RAVER2,intron_variant,,ENST00000430964,;RAVER2,intron_variant,,ENST00000371072,;RAVER2,intron_variant,,ENST00000418058,;	.	159	125	SUCCESS
RPE65	6121	.	GRCh37	1	68910330	68910330	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	111	0	ENST00000262340.5:c.379G>A	p.Glu127Lys	p.E127K	ENST00000262340	NM_000329.2	127	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS643.1	379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCTACTC	NONE	.	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7,Pfam_domain:PF03055	.	.	ENSP00000262340	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000262340	Transcript	.	.	ENSG00000116745	10294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.65)	.	tolerated(0.45)	.	RPE65_HUMAN	RPE65	HGNC	Q2EKB8_HUMAN,C7FEP0_HUMAN	.	UPI000004346C	SNV	RPE65,missense_variant,p.Glu127Lys,ENST00000262340,;	433	111	66	SUCCESS
BPI	671	.	GRCh37	20	36937389	36937389	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	110	295	1	ENST00000262865.4:c.315G>T	p.Val105=	p.V105=	ENST00000262865	NM_001725.2	105	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS13303.1	315	RADIA|SOMATICSNIPER|VARSCANS	.	AATGTGGGCCT	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF66,Gene3D:1ewfA01,Pfam_domain:PF01273,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000262865	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000262865	Transcript	.	.	ENSG00000101425	1095	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BPI_HUMAN	BPI	HGNC	B4DKH6_HUMAN	.	UPI000013D349	SNV	BPI,synonymous_variant,p.%3D,ENST00000262865,;BPI,downstream_gene_variant,,ENST00000418004,;CTD-2308N23.2,intron_variant,,ENST00000437016,;	404	297	262	SUCCESS
JPH2	57158	.	GRCh37	20	42788302	42788302	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	21	0	ENST00000372980.3:c.1125C>G	p.Arg375=	p.R375=	ENST00000372980	NM_020433.4	375	cgC/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS13325.1	1125	RADIA|MUTECT|MUSE	.	GCGGCGCGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23085:SF5,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	.	.	ENSP00000362071	.	2/6	.	.	.	.	.	.	.	.	COSM1533762	2/6	PASS	ENST00000372980	Transcript	1	.	ENSG00000149596	14202	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	JPH2_HUMAN	JPH2	HGNC	Q86VZ3_HUMAN,B4E3T9_HUMAN	.	UPI000012DAC2	SNV	JPH2,synonymous_variant,p.%3D,ENST00000372980,;	1998	21	16	SUCCESS
SLCO4A1	28231	.	GRCh37	20	61296307	61296307	+	synonymous_variant	Silent	SNP	G	G	A	rs183755475	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	135	1	ENST00000217159.1:c.1143G>A	p.Lys381=	p.K381=	ENST00000217159	NM_016354.3	381	aaG/aaA	0	.	A:0	.	A:0.0029	.	A	K	protein_coding	YES	CCDS13501.1	1143	MUTECT|MUSE	.	CTGAAGAACCC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF66,hmmpanther:PTHR11388,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Superfamily_domains:SSF103473	A:0	.	ENSP00000217159	A:0	6/12	.	.	.	.	.	.	.	.	rs183755475	6/12	PASS	ENST00000217159	Transcript	.	A:0.0004	ENSG00000101187	10953	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	SO4A1_HUMAN	SLCO4A1	HGNC	.	.	UPI00000557C6	SNV	SLCO4A1,synonymous_variant,p.%3D,ENST00000370507,;SLCO4A1,synonymous_variant,p.%3D,ENST00000217159,;SLCO4A1,upstream_gene_variant,,ENST00000451793,;RP11-93B14.5,non_coding_transcript_exon_variant,,ENST00000433126,;RP11-93B14.5,intron_variant,,ENST00000411824,;RP11-93B14.5,intron_variant,,ENST00000451648,;SLCO4A1,upstream_gene_variant,,ENST00000466961,;SLCO4A1,upstream_gene_variant,,ENST00000497919,;SLCO4A1,upstream_gene_variant,,ENST00000495889,;SLCO4A1,upstream_gene_variant,,ENST00000466818,;SLCO4A1,upstream_gene_variant,,ENST00000470412,;SLCO4A1,synonymous_variant,p.%3D,ENST00000497209,;	1348	136	80	SUCCESS
ITSN1	6453	.	GRCh37	21	35166772	35166772	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs749877076	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	40	169	1	ENST00000381318.3:c.1952G>T	p.Arg651Ile	p.R651I	ENST00000381318	NM_003024.2	651	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS33545.1	1952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGGTGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216	.	.	ENSP00000370719	.	17/40	.	.	.	.	.	.	.	.	rs749877076	17/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.296)	.	deleterious(0.01)	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,missense_variant,p.Arg651Ile,ENST00000381285,;ITSN1,missense_variant,p.Arg614Ile,ENST00000399353,;ITSN1,missense_variant,p.Arg651Ile,ENST00000399349,;ITSN1,missense_variant,p.Arg651Ile,ENST00000399352,;ITSN1,missense_variant,p.Arg651Ile,ENST00000381318,;ITSN1,missense_variant,p.Arg651Ile,ENST00000399338,;ITSN1,missense_variant,p.Arg651Ile,ENST00000399326,;ITSN1,missense_variant,p.Arg651Ile,ENST00000399355,;ITSN1,missense_variant,p.Arg651Ile,ENST00000381291,;ITSN1,missense_variant,p.Arg651Ile,ENST00000399367,;ITSN1,missense_variant,p.Arg651Ile,ENST00000437442,;ITSN1,missense_variant,p.Arg651Ile,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,upstream_gene_variant,,ENST00000419241,;	2240	170	122	SUCCESS
BACE2	25825	.	GRCh37	21	42617961	42617961	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	142	0	ENST00000330333.6:c.955G>A	p.Val319Met	p.V319M	ENST00000330333	NM_012105.4	319	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13668.1	955	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGGTGGTG	NONE	.	.	hmmpanther:PTHR13683:SF262,hmmpanther:PTHR13683,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	.	.	ENSP00000332979	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	deleterious(0.03)	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,missense_variant,p.Val319Met,ENST00000328735,;BACE2,missense_variant,p.Val319Met,ENST00000330333,;BACE2,missense_variant,p.Val319Met,ENST00000347667,;BACE2,non_coding_transcript_exon_variant,,ENST00000465326,;BACE2,non_coding_transcript_exon_variant,,ENST00000466122,;BACE2,non_coding_transcript_exon_variant,,ENST00000463674,;BACE2,non_coding_transcript_exon_variant,,ENST00000487994,;BACE2,downstream_gene_variant,,ENST00000470864,;BACE2,non_coding_transcript_exon_variant,,ENST00000491838,;	1418	142	121	SUCCESS
TEKT4P2	100132288	.	GRCh37	21	9908253	9908253	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	18	0	ENST00000416067.1:n.540T>G		p.*180*	ENST00000416067				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|MUTECT	.	CTGGGACTGCC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000416067	Transcript	.	.	ENSG00000188681	40046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TEKT4P2	HGNC	.	.	.	SNV	TEKT4P2,non_coding_transcript_exon_variant,,ENST00000416067,;TEKT4P2,non_coding_transcript_exon_variant,,ENST00000400754,;TEKT4P2,intron_variant,,ENST00000559466,;	540	18	9	SUCCESS
TYMP	1890	.	GRCh37	22	50968009	50968009	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	40	1	ENST00000252029.3:c.130C>T	p.Arg44Ter	p.R44*	ENST00000252029	NM_001953.4	44	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS58811.1	130	SOMATICSNIPER|VARSCANS	.	GTCTCGCTTCA	NONE	.	.	Superfamily_domains:SSF47648,PIRSF_domain:PIRSF000478,TIGRFAM_domain:TIGR02644,Gene3D:1.20.970.10,Pfam_domain:PF02885,hmmpanther:PTHR10515:SF1,hmmpanther:PTHR10515	.	.	ENSP00000379038	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000395681	Transcript	.	.	ENSG00000025708	3148	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TYPH_HUMAN	TYMP	HGNC	.	.	UPI000155D5D9	SNV	TYMP,stop_gained,p.Arg44Ter,ENST00000425169,;TYMP,stop_gained,p.Arg44Ter,ENST00000252029,;TYMP,stop_gained,p.Arg44Ter,ENST00000395678,;TYMP,stop_gained,p.Arg44Ter,ENST00000395681,;TYMP,stop_gained,p.Arg44Ter,ENST00000395680,;ODF3B,downstream_gene_variant,,ENST00000428989,;ODF3B,downstream_gene_variant,,ENST00000403326,;SCO2,upstream_gene_variant,,ENST00000395693,;ODF3B,downstream_gene_variant,,ENST00000401779,;ODF3B,downstream_gene_variant,,ENST00000405135,;SCO2,upstream_gene_variant,,ENST00000252785,;SCO2,upstream_gene_variant,,ENST00000423348,;SCO2,upstream_gene_variant,,ENST00000543927,;ODF3B,downstream_gene_variant,,ENST00000437588,;SCO2,upstream_gene_variant,,ENST00000439934,;SCO2,upstream_gene_variant,,ENST00000535425,;ODF3B,downstream_gene_variant,,ENST00000329363,;CTA-384D8.36,downstream_gene_variant,,ENST00000608319,;TYMP,non_coding_transcript_exon_variant,,ENST00000487577,;TYMP,non_coding_transcript_exon_variant,,ENST00000487162,;TYMP,non_coding_transcript_exon_variant,,ENST00000476284,;ODF3B,downstream_gene_variant,,ENST00000469660,;ODF3B,downstream_gene_variant,,ENST00000463472,;ODF3B,downstream_gene_variant,,ENST00000468249,;	252	41	35	SUCCESS
GPR148	344561	.	GRCh37	2	131486786	131486786	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	100	347	0	ENST00000309926.4:c.62T>A	p.Leu21His	p.L21H	ENST00000309926	NM_207364.2	21	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS2163.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCATCA	NONE	.	.	.	.	.	ENSP00000308908	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309926	Transcript	.	.	ENSG00000173302	23623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.13)	.	GP148_HUMAN	GPR148	HGNC	.	.	UPI0000048E0D	SNV	GPR148,missense_variant,p.Leu21His,ENST00000309926,;	144	347	289	SUCCESS
NCKAP5	344148	.	GRCh37	2	133540419	133540419	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs745429429	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	9	181	0	ENST00000409261.1:c.3965C>G	p.Ser1322Cys	p.S1322C	ENST00000409261	NM_207363.2	1322	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS46418.1	3965	MUTECT|MUSE	.	TGGGAGAGCTT	NONE	.	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	14/20	.	.	.	.	.	.	.	.	rs745429429,COSM3894780	14/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.957)	.	tolerated(0.18)	0,1	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Ser1322Cys,ENST00000409261,;NCKAP5,missense_variant,p.Ser1322Cys,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;	4339	181	155	SUCCESS
HOXD1	3231	.	GRCh37	2	177053978	177053978	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1428002466	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	49	0	ENST00000331462.4:c.449G>A	p.Gly150Asp	p.G150D	ENST00000331462	NM_024501.2	150	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS2271.1	449	RADIA|MUSE	.	CAGCGGCCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF183	.	.	ENSP00000328598	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331462	Transcript	.	.	ENSG00000128645	5132	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.274)	.	deleterious(0.01)	.	HXD1_HUMAN	HOXD1	HGNC	.	.	UPI000012CF80	SNV	HOXD1,missense_variant,p.Gly150Asp,ENST00000331462,;HOXD-AS1,upstream_gene_variant,,ENST00000436126,;HOXD-AS1,upstream_gene_variant,,ENST00000452365,;HOXD-AS1,upstream_gene_variant,,ENST00000417086,;HOXD-AS1,upstream_gene_variant,,ENST00000425005,;HOXD-AS1,upstream_gene_variant,,ENST00000413969,;	672	49	30	SUCCESS
UNC80	285175	.	GRCh37	2	210841642	210841642	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	140	1	ENST00000439458.1:c.8580G>A	p.Leu2860=	p.L2860=	ENST00000439458	NM_032504.1	2860	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46504.1	8580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGGCCCA	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	57/64	.	.	.	.	.	.	.	.	.	57/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,synonymous_variant,p.%3D,ENST00000439458,;UNC80,synonymous_variant,p.%3D,ENST00000272845,;UNC80,synonymous_variant,p.%3D,ENST00000539183,;UNC80,synonymous_variant,p.%3D,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	8660	141	111	SUCCESS
ABCA12	26154	.	GRCh37	2	216003042	216003042	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	18	0	ENST00000272895.7:c.-111C>A		p.*37*	ENST00000272895	NM_173076.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33372.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGGCATA	NONE	.	.	.	.	.	ENSP00000272895	.	1/53	.	.	.	.	.	.	.	.	.	1/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,5_prime_UTR_variant,,ENST00000412081,;ABCA12,5_prime_UTR_variant,,ENST00000272895,;	110	18	21	SUCCESS
SPHKAP	80309	.	GRCh37	2	228881311	228881311	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	46	140	0	ENST00000392056.3:c.4259C>A	p.Ser1420Ter	p.S1420*	ENST00000392056	NM_001142644.1	1420	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS46537.1	4259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGATCGC	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	COSM3909755,COSM3909754	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,stop_gained,p.Ser1420Ter,ENST00000344657,;SPHKAP,stop_gained,p.Ser1420Ter,ENST00000392056,;	4306	141	109	SUCCESS
HDAC4	9759	.	GRCh37	2	240056082	240056082	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	47	0	ENST00000345617.3:c.1153C>T	p.Leu385Phe	p.L385F	ENST00000345617	NM_006037.3	385	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS2529.1	1153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGCCTCT	NONE	.	.	hmmpanther:PTHR10625:SF100,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000264606	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000345617	Transcript	.	.	ENSG00000068024	14063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.236)	.	tolerated(0.71)	.	HDAC4_HUMAN	HDAC4	HGNC	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN	.	UPI000013D541	SNV	HDAC4,missense_variant,p.Leu354Phe,ENST00000541256,;HDAC4,missense_variant,p.Leu129Phe,ENST00000445704,;HDAC4,missense_variant,p.Leu385Phe,ENST00000345617,;HDAC4,5_prime_UTR_variant,,ENST00000543185,;HDAC4,non_coding_transcript_exon_variant,,ENST00000553145,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,non_coding_transcript_exon_variant,,ENST00000461113,;	1945	47	25	SUCCESS
HEATR5B	54497	.	GRCh37	2	37256043	37256043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	46	111	0	ENST00000233099.5:c.3382G>A	p.Gly1128Arg	p.G1128R	ENST00000233099	NM_019024.1	1128	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS33181.1	3382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCAGGGG	NONE	.	.	hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000233099	.	23/36	.	.	.	.	.	.	.	.	.	23/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.18)	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,missense_variant,p.Gly1128Arg,ENST00000233099,;HEATR5B,missense_variant,p.Gly1128Arg,ENST00000354531,;	3478	111	100	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43980783	43980783	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755276084	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	43	146	0	ENST00000282406.4:c.3679G>A	p.Gly1227Arg	p.G1227R	ENST00000282406	NM_172069.3	1227	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS1812.1	3679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGGAGAG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000282406	.	25/30	.	.	.	.	.	.	.	.	rs755276084	25/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.01)	.	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Gly1227Arg,ENST00000282406,;PLEKHH2,missense_variant,p.Gly31Arg,ENST00000490038,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;	3789	146	121	SUCCESS
IGKV1D-17	28900	.	GRCh37	2	90121662	90121662	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	168	1	ENST00000483379.1:c.5A>T	p.Asp2Val	p.D2V	ENST00000483379		2	gAc/gTc	0	.	.	.	.	.	T	D/V	IG_V_gene	YES	.	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGACATGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000418292	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000483379	Transcript	.	.	ENSG00000242766	5749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.602)	.	deleterious_low_confidence(0)	.	.	IGKV1D-17	HGNC	.	.	UPI0000176CBA	SNV	IGKV1D-17,missense_variant,p.Asp2Val,ENST00000483379,;	186	169	116	SUCCESS
COL6A5	256076	.	GRCh37	3	130098358	130098358	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	53	134	1	ENST00000312481.7:c.765G>T	p.Gln255His	p.Q255H	ENST00000312481		255	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	.	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGACCTT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Gln255His,ENST00000432398,;COL6A5,missense_variant,p.Gln255His,ENST00000265379,;COL6A5,missense_variant,p.Gln255His,ENST00000312481,;	1259	135	102	SUCCESS
GPR87	53836	.	GRCh37	3	151017965	151017965	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	17	48	0	ENST00000260843.4:c.-77A>G		p.*26*	ENST00000260843	NM_023915.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3157.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATAGGTT	NONE	.	.	.	.	.	ENSP00000260843	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000260843	Transcript	.	.	ENSG00000138271	4538	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR87_HUMAN	GPR87	HGNC	.	.	UPI000003C9FF	SNV	GPR87,5_prime_UTR_variant,,ENST00000260843,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000491549,;	389	48	30	SUCCESS
SI	6476	.	GRCh37	3	164724614	164724614	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs796683088	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	7	189	0	ENST00000264382.3:c.4396C>A	p.Pro1466Thr	p.P1466T	ENST00000264382	NM_001041.3	1466	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3196.1	4396	MUTECT|MUSE	.	AGTAGGTTTCA	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055	.	.	ENSP00000264382	.	37/48	.	.	.	.	.	.	.	.	exm2238896	37/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Pro1466Thr,ENST00000264382,;	4459	189	179	SUCCESS
KLHL6	89857	.	GRCh37	3	183217548	183217548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	130	1	ENST00000341319.3:c.977G>T	p.Gly326Val	p.G326V	ENST00000341319	NM_130446.2	326	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3245.2	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCGCCA	NONE	.	.	hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000341342	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000341319	Transcript	.	.	ENSG00000172578	18653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KLHL6_HUMAN	KLHL6	HGNC	.	.	UPI0000169CB9	SNV	KLHL6,missense_variant,p.Gly326Val,ENST00000341319,;KLHL6,missense_variant,p.Gly315Val,ENST00000468734,;KLHL6,intron_variant,,ENST00000489245,;	1013	132	114	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs28931588	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	99	318	1	ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2694.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGACTCT	SITE|p.D32Y|c.94G>T|138,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5661,COSM5668,COSM5672	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.992)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	374	319	271	SUCCESS
DNAH1	25981	.	GRCh37	3	52360896	52360896	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	51	295	0	ENST00000420323.2:c.727C>G	p.Leu243Val	p.L243V	ENST00000420323	NM_015512.4	243	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS46842.1	727	RADIA|MUTECT|MUSE	.	TCTACCTCCCA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	5/78	.	.	.	.	.	.	.	.	.	5/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.059)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Leu243Val,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	988	295	204	SUCCESS
ROBO1	6091	.	GRCh37	3	78688976	78688976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	135	0	ENST00000464233.1:c.2955C>A	p.Asn985Lys	p.N985K	ENST00000464233	NM_002941.3	985	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS54611.1	2955	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGTTGCC	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489	.	.	ENSP00000420321	.	22/31	.	.	.	.	.	.	.	.	.	22/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.95)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Asn985Lys,ENST00000464233,;ROBO1,missense_variant,p.Asn940Lys,ENST00000495273,;ROBO1,missense_variant,p.Asn946Lys,ENST00000436010,;ROBO1,missense_variant,p.Asn940Lys,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	3069	135	111	SUCCESS
SLC9B1	150159	.	GRCh37	4	103912818	103912818	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	16	0	ENST00000296422.7:c.51A>G	p.Gln17=	p.Q17=	ENST00000296422	NM_139173.3	17	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS34041.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GATGTTTGGAA	NONE	.	.	hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5	.	.	ENSP00000296422	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000296422	Transcript	.	.	ENSG00000164037	24244	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SL9B1_HUMAN	SLC9B1	HGNC	D6RGI9_HUMAN	.	UPI000020B281	SNV	SLC9B1,synonymous_variant,p.%3D,ENST00000394789,;SLC9B1,synonymous_variant,p.%3D,ENST00000510559,;SLC9B1,synonymous_variant,p.%3D,ENST00000514340,;SLC9B1,synonymous_variant,p.%3D,ENST00000296422,;SLC9B1,synonymous_variant,p.%3D,ENST00000504216,;SLC9B1,synonymous_variant,p.%3D,ENST00000503584,;SLC9B1,synonymous_variant,p.%3D,ENST00000510243,;SLC9B1,synonymous_variant,p.%3D,ENST00000514972,;	193	16	17	SUCCESS
LEF1	51176	.	GRCh37	4	109084858	109084858	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	153	0	ENST00000265165.1:c.281-1G>A		p.X94_splice	ENST00000265165	NM_016269.4	94		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3679.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCTGGGA	NONE	.	.	.	.	.	ENSP00000265165	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265165	Transcript	.	.	ENSG00000138795	6551	.	.	HIGH	2/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEF1_HUMAN	LEF1	HGNC	Q8IZI3_HUMAN,Q659G9_HUMAN	.	UPI0000052242	SNV	LEF1,splice_acceptor_variant,,ENST00000379951,;LEF1,splice_acceptor_variant,,ENST00000265165,;LEF1,splice_acceptor_variant,,ENST00000515500,;LEF1,splice_acceptor_variant,,ENST00000510624,;LEF1,splice_acceptor_variant,,ENST00000512172,;LEF1,splice_acceptor_variant,,ENST00000438313,;LEF1-AS1,upstream_gene_variant,,ENST00000436413,;LEF1,splice_acceptor_variant,,ENST00000504775,;LEF1,splice_acceptor_variant,,ENST00000510135,;LEF1,splice_acceptor_variant,,ENST00000505293,;LEF1,splice_acceptor_variant,,ENST00000509428,;LEF1,splice_acceptor_variant,,ENST00000510717,;LEF1,splice_acceptor_variant,,ENST00000504950,;LEF1,splice_acceptor_variant,,ENST00000506680,;	.	153	81	SUCCESS
WWC2	80014	.	GRCh37	4	184182073	184182073	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	92	0	ENST00000403733.3:c.1297A>G	p.Ser433Gly	p.S433G	ENST00000403733	NM_024949.5	433	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS34109.2	1297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCAGCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26	.	.	ENSP00000384222	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000403733	Transcript	.	.	ENSG00000151718	24148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	WWC2_HUMAN	WWC2	HGNC	.	.	UPI000022C4C2	SNV	WWC2,missense_variant,p.Ser115Gly,ENST00000504005,;WWC2,missense_variant,p.Ser433Gly,ENST00000513834,;WWC2,missense_variant,p.Ser335Gly,ENST00000378925,;WWC2,missense_variant,p.Ser433Gly,ENST00000448232,;WWC2,missense_variant,p.Ser433Gly,ENST00000403733,;WWC2,upstream_gene_variant,,ENST00000506225,;WWC2,missense_variant,p.Ser335Gly,ENST00000438543,;WWC2,3_prime_UTR_variant,,ENST00000427431,;	1496	92	79	SUCCESS
SLIT2	9353	.	GRCh37	4	20512134	20512134	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	39	0	ENST00000504154.1:c.931A>G	p.Thr311Ala	p.T311A	ENST00000504154	NM_004787.1	311	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3426.1	931	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACACAATC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	10/37	.	.	.	.	.	.	.	.	COSM1567368	10/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	tolerated(0.62)	1	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.Thr315Ala,ENST00000273739,;SLIT2,missense_variant,p.Thr311Ala,ENST00000504154,;SLIT2,missense_variant,p.Thr311Ala,ENST00000503823,;SLIT2,missense_variant,p.Thr315Ala,ENST00000503837,;	1183	39	19	SUCCESS
LYAR	55646	.	GRCh37	4	4283593	4283593	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1402421445	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	73	195	0	ENST00000343470.4:c.154A>G	p.Ile52Val	p.I52V	ENST00000343470	NM_017816.2	52	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3374.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATGCATT	NONE	.	.	hmmpanther:PTHR13100:SF10,hmmpanther:PTHR13100,Pfam_domain:PF08790,Superfamily_domains:SSF57667	.	.	ENSP00000345917	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000343470	Transcript	.	.	ENSG00000145220	26021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	tolerated(0.18)	.	LYAR_HUMAN	LYAR	HGNC	D6RDJ1_HUMAN	.	UPI00001AE9B6	SNV	LYAR,missense_variant,p.Ile52Val,ENST00000452476,;LYAR,missense_variant,p.Ile52Val,ENST00000343470,;LYAR,missense_variant,p.Ile52Val,ENST00000513174,;	395	195	167	SUCCESS
GRXCR1	389207	.	GRCh37	4	42965023	42965023	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs192948915	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	126	0	ENST00000399770.2:c.499C>A	p.Arg167Ser	p.R167S	ENST00000399770	NM_001080476.2	167	Cgc/Agc	0	.	T:0.0008	.	T:0.0014	.	A	R/S	protein_coding	YES	CCDS43225.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCGCGTA	BUFFER|p.V168I|c.502G>A|3	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168,Pfam_domain:PF00462,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	T:0	.	ENSP00000382670	T:0	2/4	.	.	.	.	.	.	.	.	rs192948915	2/4	PASS	ENST00000399770	Transcript	1	T:0.0004	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	T:0	tolerated(0.13)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Arg167Ser,ENST00000399770,;	499	126	85	SUCCESS
ABCG2	9429	.	GRCh37	4	89039368	89039368	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs766790636	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	44	175	0	ENST00000237612.3:c.734C>G	p.Pro245Arg	p.P245R	ENST00000237612	NM_004827.2	245	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS3628.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGAGGCTGA	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000237612	.	7/16	.	.	.	.	.	.	.	.	rs766790636	7/16	PASS	ENST00000237612	Transcript	1	.	ENSG00000118777	74	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ABCG2_HUMAN	ABCG2	HGNC	F8S0F2_HUMAN	.	UPI0000001275	SNV	ABCG2,missense_variant,p.Pro245Arg,ENST00000515655,;ABCG2,missense_variant,p.Pro245Arg,ENST00000237612,;	1280	175	110	SUCCESS
SNCA	6622	.	GRCh37	4	90756778	90756778	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	54	182	0	ENST00000336904.3:c.41G>A	p.Gly14Glu	p.G14E	ENST00000336904	NM_001146055.1	14	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS3634.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTCCCTCC	NONE	.	.	Prints_domain:PR01211,Prints_domain:PR01211,Superfamily_domains:0053543,Pfam_domain:PF01387,Gene3D:1xq8A00,hmmpanther:PTHR13820,hmmpanther:PTHR13820:SF5,Low_complexity_(Seg):seg	.	.	ENSP00000378437	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000394986	Transcript	1	.	ENSG00000145335	11138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYUA_HUMAN	SNCA	HGNC	Q4W5L2_HUMAN,F6L6N6_HUMAN,D6RA31_HUMAN	.	UPI000003173B	SNV	SNCA,missense_variant,p.Gly14Glu,ENST00000506244,;SNCA,missense_variant,p.Gly14Glu,ENST00000394989,;SNCA,missense_variant,p.Gly14Glu,ENST00000502987,;SNCA,missense_variant,p.Gly14Glu,ENST00000420646,;SNCA,missense_variant,p.Gly14Glu,ENST00000345009,;SNCA,missense_variant,p.Gly14Glu,ENST00000394991,;SNCA,missense_variant,p.Gly14Glu,ENST00000508895,;SNCA,missense_variant,p.Gly14Glu,ENST00000394986,;SNCA,missense_variant,p.Gly14Glu,ENST00000506691,;SNCA,missense_variant,p.Gly14Glu,ENST00000336904,;SNCA,missense_variant,p.Gly14Glu,ENST00000505199,;RP11-67M1.1,upstream_gene_variant,,ENST00000513653,;RP11-67M1.1,upstream_gene_variant,,ENST00000501215,;	463	182	137	SUCCESS
PCDHA5	56143	.	GRCh37	5	140201921	140201921	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	83	1	ENST00000529859.1:c.561A>C	p.Glu187Asp	p.E187D	ENST00000529859	NM_018908.2	187	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS54917.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAACGAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.22)	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Glu187Asp,ENST00000529619,;PCDHA5,missense_variant,p.Glu187Asp,ENST00000378126,;PCDHA5,missense_variant,p.Glu187Asp,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;	561	84	62	SUCCESS
PCDHA13	56136	.	GRCh37	5	140264081	140264081	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782182672	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	63	0	ENST00000289272.2:c.2228G>T	p.Ser743Ile	p.S743I	ENST00000289272	NM_018904.2	743	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS4240.1	2228	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCCAGCGCGG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	rs782182672	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.083)	.	deleterious_low_confidence(0)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Ser743Ile,ENST00000289272,;PCDHA13,missense_variant,p.Ser743Ile,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	2228	63	41	SUCCESS
PCDHB13	56123	.	GRCh37	5	140594941	140594941	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	70	223	1	ENST00000341948.4:c.1246G>T	p.Glu416Ter	p.E416*	ENST00000341948	NM_018933.2	416	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4255.1	1246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGAATAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	COSM3851573	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,stop_gained,p.Glu416Ter,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	1433	224	186	SUCCESS
FAT2	2196	.	GRCh37	5	150911280	150911280	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	20	0	ENST00000261800.5:c.9679G>T	p.Val3227Leu	p.V3227L	ENST00000261800	NM_001447.2	3227	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS4317.1	9679	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGGCACCTGCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.174)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Val3227Leu,ENST00000261800,;FAT2,missense_variant,p.Val86Leu,ENST00000520200,;	9692	20	13	SUCCESS
DUSP1	1843	.	GRCh37	5	172197268	172197268	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	72	261	0	ENST00000239223.3:c.409A>C	p.Ser137Arg	p.S137R	ENST00000239223	NM_004417.3	137	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS4380.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTGCACA	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR10159:SF309,hmmpanther:PTHR10159,Gene3D:3.40.250.10,PIRSF_domain:PIRSF000939,Superfamily_domains:SSF52821	.	.	ENSP00000239223	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000239223	Transcript	.	.	ENSG00000120129	3064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.16)	.	DUS1_HUMAN	DUSP1	HGNC	B4E2X6_HUMAN	.	UPI000004EED8	SNV	DUSP1,missense_variant,p.Ser137Arg,ENST00000239223,;RP11-779O18.3,intron_variant,,ENST00000523005,;	652	262	187	SUCCESS
ZNF879	345462	.	GRCh37	5	178451990	178451990	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	10	116	0	ENST00000444149.2:c.-16C>A		p.*6*	ENST00000444149	NM_001136116.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47352.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCAGCAG	NONE	.	.	.	.	.	ENSP00000414887	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000444149	Transcript	.	.	ENSG00000234284	37273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN879_HUMAN	ZNF879	HGNC	E5RJY9_HUMAN,E5RI37_HUMAN	.	UPI000022C878	SNV	ZNF879,5_prime_UTR_variant,,ENST00000519896,;ZNF879,5_prime_UTR_variant,,ENST00000444149,;ZNF879,5_prime_UTR_variant,,ENST00000521285,;ZNF879,5_prime_UTR_variant,,ENST00000522442,;	173	117	77	SUCCESS
ZNF879	345462	.	GRCh37	5	178451991	178451991	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	119	0	ENST00000444149.2:c.-15A>G		p.*5*	ENST00000444149	NM_001136116.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47352.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCAGCAGG	NONE	.	.	.	.	.	ENSP00000414887	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000444149	Transcript	.	.	ENSG00000234284	37273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN879_HUMAN	ZNF879	HGNC	E5RJY9_HUMAN,E5RI37_HUMAN	.	UPI000022C878	SNV	ZNF879,5_prime_UTR_variant,,ENST00000519896,;ZNF879,5_prime_UTR_variant,,ENST00000444149,;ZNF879,5_prime_UTR_variant,,ENST00000521285,;ZNF879,5_prime_UTR_variant,,ENST00000522442,;	174	119	80	SUCCESS
BDP1	55814	.	GRCh37	5	70751716	70751716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	64	0	ENST00000358731.4:c.12G>T	p.Arg4Ser	p.R4S	ENST00000358731	NM_018429.2	4	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS43328.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGGCACG	NONE	.	.	hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929	.	.	ENSP00000351575	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000358731	Transcript	.	.	ENSG00000145734	13652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BDP1_HUMAN	BDP1	HGNC	.	.	UPI000020CA90	SNV	BDP1,missense_variant,p.Arg4Ser,ENST00000358731,;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;	275	64	38	SUCCESS
LNPEP	4012	.	GRCh37	5	96342142	96342142	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761326897	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	57	207	0	ENST00000231368.5:c.1958A>G	p.His653Arg	p.H653R	ENST00000231368	NM_005575.2	653	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4087.1	1958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCATATTC	NONE	byFrequency	.	hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	.	.	ENSP00000231368	.	11/18	.	.	.	.	.	.	.	.	rs761326897	11/18	PASS	ENST00000231368	Transcript	.	.	ENSG00000113441	6656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0)	.	LCAP_HUMAN	LNPEP	HGNC	.	.	UPI000013C94B	SNV	LNPEP,missense_variant,p.His639Arg,ENST00000395770,;LNPEP,missense_variant,p.His653Arg,ENST00000231368,;LNPEP,downstream_gene_variant,,ENST00000473914,;	2650	207	164	SUCCESS
ASCC3	10973	.	GRCh37	6	101296578	101296578	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	39	0	ENST00000369162.2:c.247A>G	p.Thr83Ala	p.T83A	ENST00000369162	NM_006828.2	83	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS5046.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTTCCAA	NONE	.	.	hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752	.	.	ENSP00000358159	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.58)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Thr83Ala,ENST00000369162,;ASCC3,missense_variant,p.Thr83Ala,ENST00000522650,;ASCC3,missense_variant,p.Thr83Ala,ENST00000324723,;ASCC3,synonymous_variant,p.%3D,ENST00000324696,;ASCC3,non_coding_transcript_exon_variant,,ENST00000468245,;	592	39	33	SUCCESS
C6orf62	81688	.	GRCh37	6	24714570	24714570	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	147	0	ENST00000378119.4:c.405T>C	p.Ser135=	p.S135=	ENST00000378119	NM_030939.4	135	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4559.1	405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCAGATTC	NONE	.	.	Pfam_domain:PF15130	.	.	ENSP00000367359	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000378119	Transcript	.	.	ENSG00000112308	20998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF062_HUMAN	C6orf62	HGNC	B4DWX7_HUMAN	.	UPI000000DC64	SNV	C6orf62,synonymous_variant,p.%3D,ENST00000378119,;C6orf62,synonymous_variant,p.%3D,ENST00000378102,;C6orf62,synonymous_variant,p.%3D,ENST00000540769,;	2573	147	89	SUCCESS
ZNF192P1	651302	.	GRCh37	6	28134285	28134285	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	103	0	ENST00000440790.2:n.388A>C		p.*130*	ENST00000440790				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAAGGCCA	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000440790	Transcript	.	.	ENSG00000226314	18777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF192P1	HGNC	.	.	.	SNV	ZNF192P1,non_coding_transcript_exon_variant,,ENST00000562227,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000440790,;ZNF192P1,non_coding_transcript_exon_variant,,ENST00000570042,;ZNF192P1,downstream_gene_variant,,ENST00000570126,;ZNF192P1,upstream_gene_variant,,ENST00000565888,;	388	103	57	SUCCESS
GLTSCR1L	0	.	GRCh37	6	42832697	42832697	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753900781	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	72	0	ENST00000314073.5:c.2753C>A	p.Ser918Tyr	p.S918Y	ENST00000314073		918	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS34451.1	2753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCTGAAG	NONE	.	.	hmmpanther:PTHR15572:SF2,hmmpanther:PTHR15572	.	.	ENSP00000313933	.	13/13	.	.	.	.	.	.	.	.	rs753900781	13/13	PASS	ENST00000314073	Transcript	.	.	ENSG00000112624	21111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.86)	.	GSC1L_HUMAN	GLTSCR1L	HGNC	.	.	UPI0000161939	SNV	GLTSCR1L,missense_variant,p.Ser918Tyr,ENST00000394168,;GLTSCR1L,missense_variant,p.Ser918Tyr,ENST00000314073,;	2929	72	73	SUCCESS
CRISP3	10321	.	GRCh37	6	49698949	49698949	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	81	230	0	ENST00000433368.2:c.606T>C	p.Asn202=	p.N202=	ENST00000433368	NM_001190986.1	202	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS55019.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTATTAGC	NONE	.	.	Prints_domain:PR00837,Superfamily_domains:SSF55797,SMART_domains:SM00198,Gene3D:3.40.33.10,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF162	.	.	ENSP00000389026	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000433368	Transcript	.	.	ENSG00000096006	16904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIS3_HUMAN	CRISP3	HGNC	J3KQX0_HUMAN,I3L0A1_HUMAN	.	UPI0001DBC27E	SNV	CRISP3,synonymous_variant,p.%3D,ENST00000263045,;CRISP3,synonymous_variant,p.%3D,ENST00000371159,;CRISP3,synonymous_variant,p.%3D,ENST00000393666,;CRISP3,synonymous_variant,p.%3D,ENST00000433368,;CRISP3,synonymous_variant,p.%3D,ENST00000423399,;CRISP3,downstream_gene_variant,,ENST00000354620,;	676	230	199	SUCCESS
MYO6	4646	.	GRCh37	6	76595796	76595796	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	158	0	ENST00000369977.3:c.2492G>A	p.Arg831Lys	p.R831K	ENST00000369977	NM_004999.3	831	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS34487.1	2492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGGAGAC	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140	.	.	ENSP00000358994	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Arg831Lys,ENST00000369985,;MYO6,missense_variant,p.Arg831Lys,ENST00000369977,;MYO6,missense_variant,p.Arg831Lys,ENST00000369981,;MYO6,missense_variant,p.Arg831Lys,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;MYO6,downstream_gene_variant,,ENST00000462633,;	2631	158	99	SUCCESS
MRAP2	112609	.	GRCh37	6	84798909	84798909	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757494182	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	144	0	ENST00000257776.4:c.327C>G	p.Asn109Lys	p.N109K	ENST00000257776	NM_138409.2	109	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS5001.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACGAGGA	NONE	.	.	.	.	.	ENSP00000257776	.	4/4	.	.	.	.	.	.	.	.	rs757494182,COSM3875870,COSM213322	4/4	PASS	ENST00000257776	Transcript	.	.	ENSG00000135324	21232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.196)	.	tolerated(0.18)	0,1,1	MRAP2_HUMAN	MRAP2	HGNC	.	.	UPI0000074376	SNV	MRAP2,missense_variant,p.Asn109Lys,ENST00000257776,;	462	144	100	SUCCESS
DOCK4	9732	.	GRCh37	7	111634195	111634195	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	85	0	ENST00000437633.1:c.310T>A	p.Tyr104Asn	p.Y104N	ENST00000437633	NM_014705.3	104	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS47688.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATAGAGTT	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75	.	.	ENSP00000404179	.	5/52	.	.	.	.	.	.	.	.	.	5/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	deleterious(0)	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Tyr92Asn,ENST00000445943,;DOCK4,missense_variant,p.Tyr104Asn,ENST00000428084,;DOCK4,missense_variant,p.Tyr104Asn,ENST00000437633,;DOCK4,non_coding_transcript_exon_variant,,ENST00000468571,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;	567	85	54	SUCCESS
KDM7A	80853	.	GRCh37	7	139824552	139824552	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	84	0	ENST00000397560.2:c.920C>T	p.Thr307Ile	p.T307I	ENST00000397560	NM_030647.1	307	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS43658.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGTTGGC	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15,Pfam_domain:PF02373,Gene3D:1vrbA01,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000380692	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0)	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,missense_variant,p.Thr307Ile,ENST00000006967,;KDM7A,missense_variant,p.Thr307Ile,ENST00000397560,;	1018	84	61	SUCCESS
PDIA4	9601	.	GRCh37	7	148703056	148703056	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	89	0	ENST00000286091.4:c.1221G>A	p.Lys407=	p.K407=	ENST00000286091	NM_004911.4	407	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5893.1	1221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCGCTTAGC	NONE	.	.	hmmpanther:PTHR18929:SF56,hmmpanther:PTHR18929,TIGRFAM_domain:TIGR01130,Pfam_domain:PF13848,PIRSF_domain:PIRSF036862,Superfamily_domains:SSF52833	.	.	ENSP00000286091	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000286091	Transcript	.	.	ENSG00000155660	30167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIA4_HUMAN	PDIA4	HGNC	.	.	UPI000004062C	SNV	PDIA4,synonymous_variant,p.%3D,ENST00000286091,;PDIA4,non_coding_transcript_exon_variant,,ENST00000466592,;	1454	89	57	SUCCESS
NACAD	23148	.	GRCh37	7	45124284	45124284	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775493305	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	116	2	ENST00000490531.2:c.1495G>C	p.Ala499Pro	p.A499P	ENST00000490531	NM_001146334.1	499	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS47582.1	1495	RADIA|SOMATICSNIPER|VARSCANS	.	GGTAGCCACCT	NONE	.	.	hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713	.	.	ENSP00000420477	.	2/8	.	.	.	.	.	.	.	.	rs775493305	2/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.651)	.	tolerated(0.05)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Ala499Pro,ENST00000490531,;NACAD,upstream_gene_variant,,ENST00000460409,;	1515	118	80	SUCCESS
PKD1L1	168507	.	GRCh37	7	47930177	47930177	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749061984	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	78	0	ENST00000289672.2:c.2638C>T	p.Arg880Trp	p.R880W	ENST00000289672	NM_138295.3	880	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS34633.1	2638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGGGTCT	NONE	byFrequency	.	Pfam_domain:PF02010,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,PROSITE_profiles:PS51111	.	.	ENSP00000289672	.	16/57	.	.	.	.	.	.	.	.	rs749061984	16/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	deleterious(0.01)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Arg880Trp,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	2689	78	86	SUCCESS
POM121L12	285877	.	GRCh37	7	53103689	53103689	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	16	0	ENST00000408890.4:c.325G>T	p.Gly109Trp	p.G109W	ENST00000408890	NM_182595.3	109	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS43584.1	325	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CTCTGGGGCGA	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Gly109Trp,ENST00000408890,;	341	16	14	SUCCESS
POR	5447	.	GRCh37	7	75615486	75615486	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782261248	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	48	171	0	ENST00000394893.1:c.1825C>G	p.Gln609Glu	p.Q609E	ENST00000394893		609	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS5579.1	1825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCCAGCAC	NONE	.	.	hmmpanther:PTHR19384,Pfam_domain:PF00175,Gene3D:3.40.50.80,PIRSF_domain:PIRSF000208,Superfamily_domains:SSF52343,Prints_domain:PR00371	.	.	ENSP00000419970	.	15/16	.	.	.	.	.	.	.	.	rs782261248	15/16	PASS	ENST00000461988	Transcript	.	.	ENSG00000127948	9208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NCPR_HUMAN	POR	HGNC	Q59ED7_HUMAN,E7EMD0_HUMAN,C9JQ78_HUMAN	.	UPI000013D5F4	SNV	POR,missense_variant,p.Gln609Glu,ENST00000394893,;POR,missense_variant,p.Gln609Glu,ENST00000461988,;POR,missense_variant,p.Gln417Glu,ENST00000545601,;POR,missense_variant,p.Gln660Glu,ENST00000447222,;POR,missense_variant,p.Gln347Glu,ENST00000439269,;POR,missense_variant,p.Gln508Glu,ENST00000450476,;POR,intron_variant,,ENST00000419840,;TMEM120A,downstream_gene_variant,,ENST00000440632,;TMEM120A,downstream_gene_variant,,ENST00000431867,;TMEM120A,downstream_gene_variant,,ENST00000417509,;TMEM120A,downstream_gene_variant,,ENST00000493251,;TMEM120A,downstream_gene_variant,,ENST00000485581,;TMEM120A,downstream_gene_variant,,ENST00000485200,;TMEM120A,downstream_gene_variant,,ENST00000338761,;TMEM120A,downstream_gene_variant,,ENST00000490656,;TMEM120A,downstream_gene_variant,,ENST00000439537,;POR,3_prime_UTR_variant,,ENST00000454934,;POR,3_prime_UTR_variant,,ENST00000412064,;POR,non_coding_transcript_exon_variant,,ENST00000493973,;TMEM120A,downstream_gene_variant,,ENST00000486865,;TMEM120A,downstream_gene_variant,,ENST00000480899,;TMEM120A,downstream_gene_variant,,ENST00000465494,;POR,downstream_gene_variant,,ENST00000487247,;TMEM120A,downstream_gene_variant,,ENST00000465989,;POR,downstream_gene_variant,,ENST00000495770,;TMEM120A,downstream_gene_variant,,ENST00000460127,;TMEM120A,downstream_gene_variant,,ENST00000480538,;POR,downstream_gene_variant,,ENST00000460892,;TMEM120A,downstream_gene_variant,,ENST00000484946,;POR,downstream_gene_variant,,ENST00000496888,;TMEM120A,downstream_gene_variant,,ENST00000493111,;	1930	171	130	SUCCESS
SEMA3A	10371	.	GRCh37	7	83610674	83610674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	44	223	1	ENST00000265362.4:c.1615G>T	p.Gly539Cys	p.G539C	ENST00000265362	NM_006080.2	539	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5599.1	1615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCATCCC	NONE	.	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000265362	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Gly539Cys,ENST00000265362,;SEMA3A,missense_variant,p.Gly539Cys,ENST00000436949,;	1930	224	143	SUCCESS
CCDC132	0	.	GRCh37	7	92935245	92935245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	49	215	0	ENST00000305866.5:c.1558G>A	p.Gly520Ser	p.G520S	ENST00000305866	NM_017667.3	520	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43617.1	1558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTGGTGGG	NONE	.	.	hmmpanther:PTHR13258	.	.	ENSP00000307666	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000305866	Transcript	.	.	ENSG00000004766	25956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.5)	.	CC132_HUMAN	CCDC132	HGNC	A7MD03_HUMAN	.	UPI000015F998	SNV	CCDC132,missense_variant,p.Gly307Ser,ENST00000458707,;CCDC132,missense_variant,p.Gly251Ser,ENST00000317751,;CCDC132,missense_variant,p.Gly520Ser,ENST00000305866,;CCDC132,missense_variant,p.Gly490Ser,ENST00000544910,;CCDC132,missense_variant,p.Gly240Ser,ENST00000535481,;CCDC132,missense_variant,p.Gly331Ser,ENST00000541136,;CCDC132,downstream_gene_variant,,ENST00000477572,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;	1686	215	145	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110393732	110393732	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	71	0	ENST00000378402.5:c.297A>G	p.Thr99=	p.T99=	ENST00000378402	NM_177531.4	99	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS47911.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACATGCTA	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	3/78	.	.	.	.	.	.	.	.	.	3/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,synonymous_variant,p.%3D,ENST00000378402,;	401	71	67	SUCCESS
TMEM71	137835	.	GRCh37	8	133769495	133769495	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	141	1	ENST00000356838.3:c.86C>T	p.Thr29Met	p.T29M	ENST00000356838	NM_144649.2	29	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS6366.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGTGGGA	NONE	.	.	Pfam_domain:PF15121	.	.	ENSP00000349296	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000356838	Transcript	.	.	ENSG00000165071	26572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	tolerated(0.12)	.	TMM71_HUMAN	TMEM71	HGNC	E5RH69_HUMAN,E5RGD3_HUMAN	.	UPI000013E44E	SNV	TMEM71,missense_variant,p.Thr29Met,ENST00000356838,;TMEM71,missense_variant,p.Thr29Met,ENST00000519187,;TMEM71,missense_variant,p.Thr29Met,ENST00000519304,;TMEM71,missense_variant,p.Thr29Met,ENST00000523829,;TMEM71,missense_variant,p.Thr29Met,ENST00000377901,;TMEM71,5_prime_UTR_variant,,ENST00000522334,;TMEM71,intron_variant,,ENST00000519016,;TMEM71,non_coding_transcript_exon_variant,,ENST00000517538,;TMEM71,downstream_gene_variant,,ENST00000522594,;	229	142	121	SUCCESS
HTRA4	203100	.	GRCh37	8	38831805	38831805	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	92	0	ENST00000302495.4:c.23C>T	p.Thr8Ile	p.T8I	ENST00000302495	NM_153692.3	8	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS6110.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGACCGCGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000305919	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000302495	Transcript	.	.	ENSG00000169495	26909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.03)	.	HTRA4_HUMAN	HTRA4	HGNC	B4DTF7_HUMAN	.	UPI0000001BEC	SNV	HTRA4,missense_variant,p.Thr8Ile,ENST00000302495,;PLEKHA2,downstream_gene_variant,,ENST00000420274,;PLEKHA2,downstream_gene_variant,,ENST00000521746,;CTD-2544N14.3,upstream_gene_variant,,ENST00000520863,;PLEKHA2,downstream_gene_variant,,ENST00000521784,;PLEKHA2,downstream_gene_variant,,ENST00000388745,;PLEKHA2,downstream_gene_variant,,ENST00000518571,;PLEKHA2,downstream_gene_variant,,ENST00000521123,;PLEKHA2,downstream_gene_variant,,ENST00000518939,;	123	92	68	SUCCESS
PRKDC	5591	.	GRCh37	8	48697806	48697806	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	105	0	ENST00000314191.2:c.10972T>G	p.Phe3658Val	p.F3658V	ENST00000314191	NM_006904.6	3658	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	.	10972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAAGTCAC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF56112	.	.	ENSP00000313420	.	78/87	.	.	.	.	.	.	.	.	.	78/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Phe3658Val,ENST00000338368,;PRKDC,missense_variant,p.Phe3658Val,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000432581,;PRKDC,upstream_gene_variant,,ENST00000521331,;	11029	105	73	SUCCESS
MCM4	4173	.	GRCh37	8	48874204	48874204	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755044869	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	124	0	ENST00000262105.2:c.199G>A	p.Val67Met	p.V67M	ENST00000262105	NM_005914.3	67	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS6143.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGTGCTG	NONE	byFrequency	.	.	.	.	ENSP00000262105	.	2/16	.	.	.	.	.	.	.	.	rs755044869	2/16	PASS	ENST00000262105	Transcript	1	.	ENSG00000104738	6947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.28)	.	MCM4_HUMAN	MCM4	HGNC	E5RFR3_HUMAN,E5RFJ8_HUMAN,A4FS09_HUMAN	.	UPI000013D25C	SNV	MCM4,missense_variant,p.Val67Met,ENST00000518221,;MCM4,missense_variant,p.Val67Met,ENST00000262105,;MCM4,missense_variant,p.Val17Met,ENST00000519170,;MCM4,missense_variant,p.Val67Met,ENST00000523944,;PRKDC,upstream_gene_variant,,ENST00000314191,;MCM4,upstream_gene_variant,,ENST00000520637,;PRKDC,upstream_gene_variant,,ENST00000338368,;PRKDC,upstream_gene_variant,,ENST00000540819,;PRKDC,upstream_gene_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000518216,;MCM4,missense_variant,p.Val67Met,ENST00000524086,;MCM4,non_coding_transcript_exon_variant,,ENST00000520934,;MCM4,downstream_gene_variant,,ENST00000520994,;MCM4,upstream_gene_variant,,ENST00000519138,;	408	124	118	SUCCESS
PREX2	80243	.	GRCh37	8	69032483	69032483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	45	106	0	ENST00000288368.4:c.3557A>G	p.Asp1186Gly	p.D1186G	ENST00000288368	NM_024870.2	1186	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6201.1	3557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGACCAAA	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	29/40	.	.	.	.	.	.	.	.	.	29/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Asp1186Gly,ENST00000288368,;	3834	106	101	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70591818	70591818	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765107213	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	39	171	1	ENST00000260126.4:c.1819C>T	p.Arg607Cys	p.R607C	ENST00000260126	NM_030958.2	607	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS6205.1	1819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCGACTTT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF86,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137	.	.	ENSP00000260126	.	8/10	.	.	.	.	.	.	.	.	rs765107213,COSM486631	8/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.964)	.	deleterious(0)	0,1	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,missense_variant,p.Arg552Cys,ENST00000530307,;SLCO5A1,missense_variant,p.Arg607Cys,ENST00000524945,;SLCO5A1,missense_variant,p.Arg607Cys,ENST00000260126,;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	2526	172	152	SUCCESS
KCNB2	9312	.	GRCh37	8	73480055	73480055	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs561571977	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	83	134	0	ENST00000523207.1:c.87del	p.Ser30AlafsTer53	p.S30Afs*53	ENST00000523207	NM_004770.2	29	cGg/cg	0	.	A:0	.	A:0	.	-	R/X	protein_coding	YES	CCDS6209.1	86	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATCCGGAGCA	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000430846	A:0	2/3	.	.	.	.	.	.	.	.	rs561571977,COSM1101531	2/3	PASS	ENST00000523207	Transcript	.	A:0.0016	ENSG00000182674	6232	1	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0.0082	.	0,1	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	deletion	KCNB2,frameshift_variant,p.Ser30AlafsTer53,ENST00000523207,;	674	134	222	SUCCESS
SLC7A13	157724	.	GRCh37	8	87229802	87229802	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs201235225,rs770408485	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	87	0	ENST00000297524.3:c.1076T>A	p.Leu359Ter	p.L359*	ENST00000297524	NM_138817.2	359	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS34917.1	1076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCAAATCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000297524	.	3/4	.	.	.	.	.	.	.	.	rs201235225,rs770408485	3/4	PASS	ENST00000297524	Transcript	.	.	ENSG00000164893	23092	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S7A13_HUMAN	SLC7A13	HGNC	.	.	UPI000006DF39	SNV	SLC7A13,stop_gained,p.Leu350Ter,ENST00000419776,;SLC7A13,stop_gained,p.Leu359Ter,ENST00000297524,;SLC7A13,downstream_gene_variant,,ENST00000520624,;	1180	87	93	SUCCESS
INTS8	55656	.	GRCh37	8	95892419	95892419	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	132	0	ENST00000523731.1:c.2945G>A	p.Arg982Lys	p.R982K	ENST00000523731	NM_017864.3	982	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS34925.1	2945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGGAAAA	NONE	.	.	hmmpanther:PTHR13350	.	.	ENSP00000430338	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,missense_variant,p.Arg787Lys,ENST00000520526,;INTS8,missense_variant,p.Arg965Lys,ENST00000447247,;INTS8,missense_variant,p.Arg982Lys,ENST00000523731,;CCNE2,3_prime_UTR_variant,,ENST00000520509,;CCNE2,downstream_gene_variant,,ENST00000308108,;CCNE2,downstream_gene_variant,,ENST00000524224,;CCNE2,downstream_gene_variant,,ENST00000396133,;RP11-347C18.5,upstream_gene_variant,,ENST00000605911,;INTS8,3_prime_UTR_variant,,ENST00000343161,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,downstream_gene_variant,,ENST00000521155,;INTS8,downstream_gene_variant,,ENST00000523998,;	3078	132	147	SUCCESS
PRRC2B	84726	.	GRCh37	9	134351321	134351322	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	88	0	ENST00000357304.4:c.3809dup	p.Phe1271LeufsTer2	p.F1271Lfs*2	ENST00000357304	NM_013318.3	1269	cgg/cGgg	0	.	.	.	.	.	G	R/RX	protein_coding	YES	CCDS48044.1	3805-3806	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCCGGGGC	NONE	.	.	hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	.	.	ENSP00000349856	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000357304	Transcript	.	.	ENSG00000130723	28121	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	insertion	PRRC2B,frameshift_variant,p.Phe5LeufsTer2,ENST00000451855,;PRRC2B,frameshift_variant,p.Phe1271LeufsTer2,ENST00000357304,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,intron_variant,,ENST00000458550,;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,downstream_gene_variant,,ENST00000456307,;	3860-3861	88	77	SUCCESS
ABCA2	20	.	GRCh37	9	139916820	139916820	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367828133	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	69	0	ENST00000341511.6:c.550C>T	p.Arg184Cys	p.R184C	ENST00000341511	NM_212533.2	184	Cgt/Tgt	0	C:0	A:0.0008	.	A:0	.	A	R/C	protein_coding	YES	CCDS43909.1	550	RADIA|MUTECT|MUSE	.	CACACGGGCGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116	A:0	C:0.0001	ENSP00000344155	A:0	6/49	.	.	.	.	.	.	.	.	rs367828133	6/49	PASS	ENST00000341511	Transcript	.	A:0.0002	ENSG00000107331	32	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.764)	A:0	deleterious(0.05)	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,missense_variant,p.Arg183Cys,ENST00000371605,;ABCA2,missense_variant,p.Arg184Cys,ENST00000341511,;ABCA2,missense_variant,p.Arg184Cys,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000470535,;ABCA2,non_coding_transcript_exon_variant,,ENST00000398207,;ABCA2,non_coding_transcript_exon_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000466707,;ABCA2,upstream_gene_variant,,ENST00000467624,;ABCA2,missense_variant,p.Arg213Cys,ENST00000459850,;ABCA2,missense_variant,p.Arg213Cys,ENST00000487109,;ABCA2,3_prime_UTR_variant,,ENST00000464876,;ABCA2,non_coding_transcript_exon_variant,,ENST00000476211,;ABCA2,non_coding_transcript_exon_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000479446,;ABCA2,upstream_gene_variant,,ENST00000488535,;ABCA2,downstream_gene_variant,,ENST00000425423,;	600	69	53	SUCCESS
C9orf72	203228	.	GRCh37	9	27566949	27566949	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	58	187	1	ENST00000380003.3:c.170G>C	p.Gly57Ala	p.G57A	ENST00000380003	NM_001256054.1	57	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS6522.1	170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCCATCA	NONE	.	.	hmmpanther:PTHR31855,hmmpanther:PTHR31855:SF1	.	.	ENSP00000369339	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000380003	Transcript	.	.	ENSG00000147894	28337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.797)	.	tolerated(0.11)	.	CI072_HUMAN	C9orf72	HGNC	Q9NUW0_HUMAN	.	UPI00001D3FEF	SNV	C9orf72,missense_variant,p.Gly57Ala,ENST00000379997,;C9orf72,missense_variant,p.Gly57Ala,ENST00000380003,;C9orf72,missense_variant,p.Gly57Ala,ENST00000379995,;C9orf72,non_coding_transcript_exon_variant,,ENST00000461679,;C9orf72,non_coding_transcript_exon_variant,,ENST00000488117,;	234	188	147	SUCCESS
ARID3C	138715	.	GRCh37	9	34622422	34622422	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	91	0	ENST00000378909.2:c.970G>C	p.Val324Leu	p.V324L	ENST00000378909	NM_001017363.1	324	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS35006.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACAGCTC	NONE	.	.	PROSITE_profiles:PS51486,hmmpanther:PTHR15348	.	.	ENSP00000368189	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000378909	Transcript	.	.	ENSG00000205143	21209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.39)	.	ARI3C_HUMAN	ARID3C	HGNC	.	.	UPI0000509F06	SNV	ARID3C,missense_variant,p.Val324Leu,ENST00000378909,;DCTN3,upstream_gene_variant,,ENST00000447983,;DCTN3,upstream_gene_variant,,ENST00000378916,;DCTN3,upstream_gene_variant,,ENST00000378911,;DCTN3,upstream_gene_variant,,ENST00000341694,;DCTN3,upstream_gene_variant,,ENST00000378913,;DCTN3,upstream_gene_variant,,ENST00000421919,;DCTN3,upstream_gene_variant,,ENST00000259632,;DCTN3,upstream_gene_variant,,ENST00000477738,;	1063	91	59	SUCCESS
INSL6	11172	.	GRCh37	9	5164195	5164195	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	47	0	ENST00000381641.3:c.360G>T	p.Lys120Asn	p.K120N	ENST00000381641	NM_007179.2	120	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS6458.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCCTTTTT	NONE	.	.	PIRSF_domain:PIRSF037062,SMART_domains:SM00078,Pfam_domain:PF00049,hmmpanther:PTHR12004:SF1,hmmpanther:PTHR12004	.	.	ENSP00000371054	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381641	Transcript	.	.	ENSG00000120210	6089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.03)	.	INSL6_HUMAN	INSL6	HGNC	.	.	UPI000012D681	SNV	INSL6,missense_variant,p.Lys120Asn,ENST00000381641,;INSL6,non_coding_transcript_exon_variant,,ENST00000510407,;	426	47	39	SUCCESS
FAM27E3	100131997	.	GRCh37	9	67786112	67786112	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	59	0	ENST00000455764.2:c.143A>G	p.Gln48Arg	p.Q48R	ENST00000455764		48	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	.	143	RADIA|VARSCANS	.	GTCTTTGGTGA	NONE	.	.	.	.	.	ENSP00000463817	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000455764	Transcript	.	.	ENSG00000232833	28655	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.617)	.	tolerated_low_confidence(0.13)	.	F27E3_HUMAN	FAM27E3	HGNC	.	.	UPI0000072D43	SNV	FAM27E3,missense_variant,p.Gln48Arg,ENST00000455764,;RP11-12A20.2,intron_variant,,ENST00000515258,;RP11-12A20.2,intron_variant,,ENST00000306009,;RP11-12A20.2,upstream_gene_variant,,ENST00000578729,;RP11-12A20.4,downstream_gene_variant,,ENST00000418128,;RP11-12A20.6,upstream_gene_variant,,ENST00000419793,;	338	59	42	SUCCESS
SMC5	23137	.	GRCh37	9	72879295	72879295	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	59	257	0	ENST00000361138.5:c.261G>T	p.Ser87=	p.S87=	ENST00000361138	NM_015110.3	87	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6632.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCGAGCAT	NONE	.	.	hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306,Pfam_domain:PF02463,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000354957	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,synonymous_variant,p.%3D,ENST00000361138,;	319	257	153	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	105011411	105011411	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	207	186	0	ENST00000372582.1:c.1818C>A	p.Phe606Leu	p.F606L	ENST00000372582	NM_017416.1	606	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS14517.1	1818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCCACCC	NONE	.	.	hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890	.	.	ENSP00000361663	.	11/11	.	.	.	.	.	.	.	.	COSM25515,COSM1464602	11/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.005)	.	tolerated_low_confidence(0.07)	1,1	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,missense_variant,p.Phe606Leu,ENST00000344799,;IL1RAPL2,missense_variant,p.Phe606Leu,ENST00000372582,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;	2574	186	241	SUCCESS
DCAF12L1	139170	.	GRCh37	X	125685361	125685361	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745718446	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	120	194	1	ENST00000371126.1:c.1231C>T	p.Leu411Phe	p.L411F	ENST00000371126	NM_178470.4	411	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS14610.1	1231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGCCAGC	NONE	byFrequency	.	hmmpanther:PTHR19860:SF9,hmmpanther:PTHR19860	.	.	ENSP00000360167	.	1/2	.	.	.	.	.	.	.	.	rs745718446	1/2	PASS	ENST00000371126	Transcript	.	.	ENSG00000198889	29395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0.04)	.	DC121_HUMAN	DCAF12L1	HGNC	.	.	UPI0000160112	SNV	DCAF12L1,missense_variant,p.Leu411Phe,ENST00000371126,;	1474	195	255	SUCCESS
L1CAM	3897	.	GRCh37	X	153129931	153129931	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	40	92	0	ENST00000370060.1:c.3168A>G		p.X1056_splice	ENST00000370060	NM_001278116.1	1056	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS14733.1	3168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTTCTGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42	.	.	ENSP00000359077	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,synonymous_variant,p.%3D,ENST00000370058,;L1CAM,synonymous_variant,p.%3D,ENST00000538883,;L1CAM,synonymous_variant,p.%3D,ENST00000370060,;L1CAM,synonymous_variant,p.%3D,ENST00000370055,;L1CAM,synonymous_variant,p.%3D,ENST00000361981,;L1CAM,synonymous_variant,p.%3D,ENST00000543994,;L1CAM,synonymous_variant,p.%3D,ENST00000361699,;L1CAM,synonymous_variant,p.%3D,ENST00000370057,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000484652,;L1CAM,upstream_gene_variant,,ENST00000491983,;	3358	92	83	SUCCESS
PHEX	5251	.	GRCh37	X	22117127	22117127	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757539874	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	30	0	ENST00000379374.4:c.937G>A	p.Asp313Asn	p.D313N	ENST00000379374	NM_000444.4	313	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS14204.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGACTGG	NONE	byFrequency	.	Superfamily_domains:SSF55486,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF117,hmmpanther:PTHR11733	.	.	ENSP00000368682	.	9/22	.	.	.	.	.	.	.	.	rs757539874	9/22	PASS	ENST00000379374	Transcript	.	.	ENSG00000102174	8918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.362)	.	tolerated(1)	.	PHEX_HUMAN	PHEX	HGNC	D1LZJ7_HUMAN,B4DWG8_HUMAN	.	UPI0000033C42	SNV	PHEX,missense_variant,p.Asp313Asn,ENST00000379374,;PHEX,missense_variant,p.Asp216Asn,ENST00000535894,;PHEX,missense_variant,p.Asp16Asn,ENST00000418858,;PHEX,missense_variant,p.Asp313Asn,ENST00000537599,;PHEX,non_coding_transcript_exon_variant,,ENST00000475778,;	1502	30	31	SUCCESS
SHROOM4	57477	.	GRCh37	X	50376662	50376662	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	64	104	0	ENST00000289292.7:c.2411C>T	p.Pro804Leu	p.P804L	ENST00000289292		804	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS35277.1	2411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTGGTCTC	NONE	.	.	hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012	.	.	ENSP00000365188	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.282)	.	deleterious(0.02)	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,missense_variant,p.Pro804Leu,ENST00000376020,;SHROOM4,missense_variant,p.Pro804Leu,ENST00000289292,;SHROOM4,missense_variant,p.Pro688Leu,ENST00000460112,;	2437	104	82	SUCCESS
PHF8	23133	.	GRCh37	X	54022132	54022132	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	22	72	0	ENST00000357988.5:c.1425G>A	p.Leu475=	p.L475=	ENST00000357988	NM_001184896.1	475	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55420.1	1425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCAGGCG	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11	.	.	ENSP00000350676	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000357988	Transcript	.	.	ENSG00000172943	20672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF8_HUMAN	PHF8	HGNC	Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN	.	UPI00001C2071	SNV	PHF8,synonymous_variant,p.%3D,ENST00000338154,;PHF8,synonymous_variant,p.%3D,ENST00000338946,;PHF8,synonymous_variant,p.%3D,ENST00000443302,;PHF8,synonymous_variant,p.%3D,ENST00000396282,;PHF8,synonymous_variant,p.%3D,ENST00000357988,;PHF8,synonymous_variant,p.%3D,ENST00000322659,;PHF8,synonymous_variant,p.%3D,ENST00000448003,;PHF8,synonymous_variant,p.%3D,ENST00000413386,;PHF8,downstream_gene_variant,,ENST00000490635,;PHF8,upstream_gene_variant,,ENST00000494928,;	1784	72	31	SUCCESS
FAM46D	0	.	GRCh37	X	79698052	79698052	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	193	187	2	ENST00000538312.1:c.14G>A	p.Arg5Lys	p.R5K	ENST00000538312	NM_001170574.1	5	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS14446.1	14	RADIA|SOMATICSNIPER|VARSCANS	.	AATCAGATTCA	NONE	.	.	hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.445)	.	deleterious(0.02)	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,missense_variant,p.Arg5Lys,ENST00000308293,;FAM46D,missense_variant,p.Arg5Lys,ENST00000538312,;	348	189	218	SUCCESS
CDNF	441549	.	GRCh37	10	14862095	14862095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	35	84	0	ENST00000465530.1:c.448A>G	p.Ile150Val	p.I150V	ENST00000465530	NM_001029954.2	150	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31148.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATCTGCT	NONE	.	.	Superfamily_domains:SSF68906,Pfam_domain:PF10208,hmmpanther:PTHR12990:SF8,hmmpanther:PTHR12990	.	.	ENSP00000419395	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000465530	Transcript	.	.	ENSG00000185267	24913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.05)	.	CDNF_HUMAN	CDNF	HGNC	.	.	UPI0000051CF6	SNV	CDNF,missense_variant,p.Ile48Val,ENST00000378442,;CDNF,missense_variant,p.Ile150Val,ENST00000465530,;CDNF,non_coding_transcript_exon_variant,,ENST00000467405,;CDNF,non_coding_transcript_exon_variant,,ENST00000466269,;CDNF,non_coding_transcript_exon_variant,,ENST00000378441,;	574	85	140	SUCCESS
DCLRE1C	64421	.	GRCh37	10	14951131	14951131	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1404800146	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	90	0	ENST00000378278.2:c.1355G>T	p.Cys452Phe	p.C452F	ENST00000378278		452	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31149.1	1355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACAATCT	NONE	.	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF8	.	.	ENSP00000367527	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000378278	Transcript	1	.	ENSG00000152457	17642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	DCR1C_HUMAN	DCLRE1C	HGNC	B3KSJ7_HUMAN	.	UPI000013EEDC	SNV	DCLRE1C,missense_variant,p.Cys332Phe,ENST00000396817,;DCLRE1C,missense_variant,p.Cys452Phe,ENST00000378278,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000378258,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000378254,;DCLRE1C,missense_variant,p.Cys105Phe,ENST00000378242,;DCLRE1C,missense_variant,p.Cys337Phe,ENST00000378246,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000378255,;DCLRE1C,missense_variant,p.Cys337Phe,ENST00000378249,;DCLRE1C,missense_variant,p.Cys337Phe,ENST00000357717,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000453695,;DCLRE1C,intron_variant,,ENST00000378289,;SUV39H2,downstream_gene_variant,,ENST00000313519,;DCLRE1C,non_coding_transcript_exon_variant,,ENST00000492201,;DCLRE1C,downstream_gene_variant,,ENST00000489845,;SUV39H2,downstream_gene_variant,,ENST00000378331,;	1393	90	94	SUCCESS
AKR1E2	83592	.	GRCh37	10	4888063	4888063	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	56	0	ENST00000298375.7:c.838-1277T>A		p.*280*	ENST00000298375	NM_001040177.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31134.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGATGGCTG	NONE	.	.	.	.	.	ENSP00000298375	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,intron_variant,,ENST00000487985,;AKR1E2,intron_variant,,ENST00000345253,;AKR1E2,intron_variant,,ENST00000334019,;AKR1E2,intron_variant,,ENST00000532248,;AKR1E2,intron_variant,,ENST00000298375,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000525281,;AKR1E2,downstream_gene_variant,,ENST00000441590,;AKR1E2,intron_variant,,ENST00000463345,;AKR1E2,intron_variant,,ENST00000474119,;AKR1E2,downstream_gene_variant,,ENST00000525572,;	.	56	87	SUCCESS
TMPRSS13	84000	.	GRCh37	11	117789359	117789359	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	23	0	ENST00000524993.1:c.216C>T	p.Gly72=	p.G72=	ENST00000524993	NM_001077263.2	72	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41721.1	216	RADIA|SOMATICSNIPER|VARSCANS	.	GCCCGGCCTGG	BUFFER|p.S70P|c.208T>C|5,BUFFER|p.S70P|c.208T>C|6,BUFFER|p.S70P|c.208T>C|4	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037935	.	.	ENSP00000434279	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000524993	Transcript	.	.	ENSG00000137747	29808	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TMPRSS13	HGNC	Q1RMF8_HUMAN,E9PRA0_HUMAN	.	UPI0000E5923F	SNV	TMPRSS13,synonymous_variant,p.%3D,ENST00000526090,;TMPRSS13,synonymous_variant,p.%3D,ENST00000524993,;TMPRSS13,synonymous_variant,p.%3D,ENST00000430170,;TMPRSS13,synonymous_variant,p.%3D,ENST00000528626,;TMPRSS13,synonymous_variant,p.%3D,ENST00000445164,;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	274	24	36	SUCCESS
DKK3	27122	.	GRCh37	11	11987381	11987381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	53	0	ENST00000326932.4:c.805A>T	p.Ser269Cys	p.S269C	ENST00000326932	NM_013253.4	269	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS7808.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGGCAC	NONE	.	.	hmmpanther:PTHR12113,Gene3D:2.10.80.10	.	.	ENSP00000379762	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000396505	Transcript	.	.	ENSG00000050165	2893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0.01)	.	DKK3_HUMAN	DKK3	HGNC	E9PKW6_HUMAN	.	UPI00001694CA	SNV	DKK3,missense_variant,p.Ser269Cys,ENST00000396505,;DKK3,missense_variant,p.Ser241Cys,ENST00000450094,;DKK3,missense_variant,p.Ser269Cys,ENST00000525493,;DKK3,missense_variant,p.Ser269Cys,ENST00000326932,;DKK3,downstream_gene_variant,,ENST00000534511,;DKK3,downstream_gene_variant,,ENST00000529338,;DKK3,downstream_gene_variant,,ENST00000533813,;DKK3,non_coding_transcript_exon_variant,,ENST00000528188,;DKK3,intron_variant,,ENST00000527132,;DKK3,downstream_gene_variant,,ENST00000532873,;DKK3,downstream_gene_variant,,ENST00000525927,;DKK3,downstream_gene_variant,,ENST00000532372,;	1044	53	55	SUCCESS
C11orf63	0	.	GRCh37	11	122774639	122774639	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	79	0	ENST00000227349.2:c.351A>G	p.Gln117=	p.Q117=	ENST00000227349	NM_024806.3	117	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS8438.1	351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAACCAAT	NONE	.	.	hmmpanther:PTHR14726	.	.	ENSP00000227349	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000227349	Transcript	.	.	ENSG00000109944	26288	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK063_HUMAN	C11orf63	HGNC	.	.	UPI00001FA5AB	SNV	C11orf63,synonymous_variant,p.%3D,ENST00000531316,;C11orf63,synonymous_variant,p.%3D,ENST00000227349,;C11orf63,synonymous_variant,p.%3D,ENST00000307257,;	648	79	60	SUCCESS
MUC5B	727897	.	GRCh37	11	1267292	1267292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	266	112	365	1	ENST00000529681.1:c.9182C>A	p.Ser3061Tyr	p.S3061Y	ENST00000529681	NM_002458.2	3061	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44515.2	9182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ser3061Tyr,ENST00000529681,;MUC5B,missense_variant,p.Ser3064Tyr,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	9240	366	378	SUCCESS
HIPK3	10114	.	GRCh37	11	33308240	33308240	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	98	0	ENST00000303296.4:c.280G>A	p.Val94Ile	p.V94I	ENST00000303296	NM_005734.4	94	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS7884.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGTCATA	NONE	.	.	hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058	.	.	ENSP00000304226	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.22)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Val94Ile,ENST00000525975,;HIPK3,missense_variant,p.Val94Ile,ENST00000456517,;HIPK3,missense_variant,p.Val94Ile,ENST00000379016,;HIPK3,missense_variant,p.Val94Ile,ENST00000303296,;HIPK3,downstream_gene_variant,,ENST00000531504,;	585	98	96	SUCCESS
UBQLN3	50613	.	GRCh37	11	5529136	5529136	+	synonymous_variant	Silent	SNP	C	C	A	rs754916229	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	88	0	ENST00000311659.4:c.1653G>T	p.Gly551=	p.G551=	ENST00000311659	NM_017481.2	551	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7758.1	1653	RADIA|MUTECT|MUSE	.	CCCGTCCCTGC	NONE	byFrequency	.	hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4	.	.	ENSP00000347997	.	2/2	.	.	.	.	.	.	.	.	rs754916229	2/2	PASS	ENST00000311659	Transcript	.	.	ENSG00000175520	12510	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBQL3_HUMAN	UBQLN3	HGNC	C9IYQ4_HUMAN	.	UPI000006E3A0	SNV	UBQLN3,synonymous_variant,p.%3D,ENST00000311659,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000396895,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	1801	88	89	SUCCESS
DNHD1	144132	.	GRCh37	11	6567458	6567458	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	97	0	ENST00000254579.6:c.5289T>C	p.Tyr1763=	p.Y1763=	ENST00000254579	NM_144666.2	1763	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS44532.1	5289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTATGCCCC	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF12774	.	.	ENSP00000254579	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,synonymous_variant,p.%3D,ENST00000527990,;DNHD1,synonymous_variant,p.%3D,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533649,;DNHD1,intron_variant,,ENST00000534210,;	5853	97	105	SUCCESS
TPCN2	219931	.	GRCh37	11	68854594	68854594	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	60	0	ENST00000294309.3:c.2100G>A	p.Lys700=	p.K700=	ENST00000294309	NM_139075.3	700	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS8189.1	2100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGTGGGA	NONE	.	.	Superfamily_domains:SSF81324,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF175	.	.	ENSP00000294309	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000294309	Transcript	.	.	ENSG00000162341	20820	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPC2_HUMAN	TPCN2	HGNC	.	.	UPI000013E149	SNV	TPCN2,synonymous_variant,p.%3D,ENST00000542467,;TPCN2,synonymous_variant,p.%3D,ENST00000294309,;MIR3164,downstream_gene_variant,,ENST00000581178,;TPCN2,non_coding_transcript_exon_variant,,ENST00000442692,;	2201	60	62	SUCCESS
UNC119B	84747	.	GRCh37	12	121151187	121151187	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	45	157	0	ENST00000344651.4:c.355T>G	p.Ser119Ala	p.S119A	ENST00000344651	NM_001080533.2	119	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS31914.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTTTCAGGT	NONE	.	.	hmmpanther:PTHR12951:SF3,hmmpanther:PTHR12951,Pfam_domain:PF05351,Gene3D:1kshB00,Superfamily_domains:SSF81296	.	.	ENSP00000344942	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000344651	Transcript	.	.	ENSG00000175970	16488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	U119B_HUMAN	UNC119B	HGNC	.	.	UPI00001FBCE1	SNV	UNC119B,missense_variant,p.Ser119Ala,ENST00000344651,;UNC119B,non_coding_transcript_exon_variant,,ENST00000539658,;	395	157	136	SUCCESS
ANAPC5	51433	.	GRCh37	12	121783834	121783834	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	116	0	ENST00000261819.3:c.398del	p.Gly133ValfsTer7	p.G133Vfs*7	ENST00000261819	NM_016237.4	133	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS9220.1	398	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAAACCTACA	NONE	.	.	hmmpanther:PTHR12830	.	.	ENSP00000261819	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000261819	Transcript	.	.	ENSG00000089053	15713	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APC5_HUMAN	ANAPC5	HGNC	Q49A41_HUMAN,F5GZ05_HUMAN,F5GY68_HUMAN,B4DFK4_HUMAN	.	UPI000006DF80	deletion	ANAPC5,frameshift_variant,p.Gly133ValfsTer7,ENST00000541887,;ANAPC5,frameshift_variant,p.Gly34ValfsTer7,ENST00000544442,;ANAPC5,frameshift_variant,p.Gly34ValfsTer7,ENST00000344395,;ANAPC5,frameshift_variant,p.Gly133ValfsTer7,ENST00000261819,;ANAPC5,frameshift_variant,p.Gly34ValfsTer7,ENST00000536837,;ANAPC5,frameshift_variant,p.Gly34ValfsTer7,ENST00000441917,;ANAPC5,frameshift_variant,p.Gly12ValfsTer7,ENST00000536366,;ANAPC5,frameshift_variant,p.Gly181ValfsTer7,ENST00000539871,;ANAPC5,splice_region_variant,,ENST00000536416,;ANAPC5,splice_region_variant,,ENST00000541652,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000534976,;ANAPC5,upstream_gene_variant,,ENST00000539612,;ANAPC5,downstream_gene_variant,,ENST00000545801,;	520	116	101	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1953666	1953666	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	71	125	1	ENST00000382722.5:c.2372G>A	p.Ser791Asn	p.S791N	ENST00000382722	NM_172364.4	791	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS44785.1	2372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGCTGGCC	NONE	.	.	hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166	.	.	ENSP00000372169	.	25/38	.	.	.	.	.	.	.	.	.	25/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.89)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Ser652Asn,ENST00000585732,;CACNA2D4,missense_variant,p.Ser766Asn,ENST00000587995,;CACNA2D4,missense_variant,p.Ser791Asn,ENST00000586184,;CACNA2D4,missense_variant,p.Ser791Asn,ENST00000382722,;CACNA2D4,missense_variant,p.Ser727Asn,ENST00000588077,;CACNA2D4,missense_variant,p.Ser727Asn,ENST00000585708,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000539048,;CACNA2D4,missense_variant,p.Ser72Asn,ENST00000537784,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	2735	126	194	SUCCESS
RASSF8	11228	.	GRCh37	12	26217450	26217450	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	151	0	ENST00000282884.9:c.123C>A	p.Thr41=	p.T41=	ENST00000282884	NM_001164746.1	41	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS53765.1	123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACCCTTAT	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR15286:SF9,hmmpanther:PTHR15286,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000384491	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000405154	Transcript	.	.	ENSG00000123094	13232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF8_HUMAN	RASSF8	HGNC	H0YG85_HUMAN,F5H8C5_HUMAN,F5H8B9_HUMAN,F5H7J1_HUMAN,F5H343_HUMAN,F5H0S5_HUMAN,F5GYP8_HUMAN	.	UPI00001FB7C1	SNV	RASSF8,synonymous_variant,p.%3D,ENST00000542315,;RASSF8,synonymous_variant,p.%3D,ENST00000542004,;RASSF8,synonymous_variant,p.%3D,ENST00000541218,;RASSF8,synonymous_variant,p.%3D,ENST00000545413,;RASSF8,synonymous_variant,p.%3D,ENST00000282884,;RASSF8,synonymous_variant,p.%3D,ENST00000381352,;RASSF8,synonymous_variant,p.%3D,ENST00000542865,;RASSF8,synonymous_variant,p.%3D,ENST00000535907,;RASSF8,synonymous_variant,p.%3D,ENST00000405154,;RASSF8,synonymous_variant,p.%3D,ENST00000541490,;RASSF8,upstream_gene_variant,,ENST00000539545,;	322	151	96	SUCCESS
MRPS35	60488	.	GRCh37	12	27908279	27908279	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	105	0	ENST00000081029.3:c.868G>A	p.Glu290Lys	p.E290K	ENST00000081029	NM_021821.3	290	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8714.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGAAGAG	NONE	.	.	hmmpanther:PTHR13490	.	.	ENSP00000081029	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000081029	Transcript	.	.	ENSG00000061794	16635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.4)	.	RT35_HUMAN	MRPS35	HGNC	.	.	UPI000003B0E7	SNV	MRPS35,missense_variant,p.Glu290Lys,ENST00000081029,;MRPS35,3_prime_UTR_variant,,ENST00000538315,;MRPS35,3_prime_UTR_variant,,ENST00000542791,;Y_RNA,downstream_gene_variant,,ENST00000516776,;	939	105	66	SUCCESS
DDX11	1663	.	GRCh37	12	31249813	31249813	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1427634316	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	63	151	0	ENST00000545668.1:c.1651G>A	p.Glu551Lys	p.E551K	ENST00000545668	NM_001257144.1	551	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44856.1	1651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGAGAGT	NONE	.	.	hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,TIGRFAM_domain:TIGR00604	.	.	ENSP00000384703	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.374)	.	tolerated(0.17)	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	SNV	DDX11,missense_variant,p.Glu551Lys,ENST00000350437,;DDX11,missense_variant,p.Glu551Lys,ENST00000542838,;DDX11,missense_variant,p.Glu551Lys,ENST00000545668,;DDX11,missense_variant,p.Glu525Lys,ENST00000228264,;DDX11,missense_variant,p.Glu551Lys,ENST00000407793,;DDX11,3_prime_UTR_variant,,ENST00000251758,;DDX11,non_coding_transcript_exon_variant,,ENST00000539673,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,3_prime_UTR_variant,,ENST00000539049,;DDX11,non_coding_transcript_exon_variant,,ENST00000536580,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,non_coding_transcript_exon_variant,,ENST00000539699,;DDX11,intron_variant,,ENST00000538345,;DDX11,upstream_gene_variant,,ENST00000542661,;DDX11,upstream_gene_variant,,ENST00000542777,;DDX11,downstream_gene_variant,,ENST00000542129,;DDX11,downstream_gene_variant,,ENST00000543511,;DDX11,downstream_gene_variant,,ENST00000543026,;DDX11,upstream_gene_variant,,ENST00000538740,;	1902	151	173	SUCCESS
USP5	8078	.	GRCh37	12	6968631	6968631	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	149	0	ENST00000229268.8:c.1059-3T>A		p.X353_splice	ENST00000229268	NM_001098536.1	353		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41743.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTTAGGTA	NONE	.	.	.	.	.	ENSP00000229268	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	LOW	8/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,splice_region_variant,,ENST00000229268,;USP5,splice_region_variant,,ENST00000389231,;USP5,intron_variant,,ENST00000542087,;USP5,upstream_gene_variant,,ENST00000541969,;USP5,splice_region_variant,,ENST00000537267,;USP5,upstream_gene_variant,,ENST00000542371,;USP5,downstream_gene_variant,,ENST00000535080,;	.	149	135	SUCCESS
C1RL	51279	.	GRCh37	12	7249174	7249174	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771340998	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	65	235	2	ENST00000266542.4:c.1277C>T	p.Thr426Met	p.T426M	ENST00000266542	NM_016546.2	426	aCg/aTg	0	.	A:0.0008	.	A:0	.	A	T/M	protein_coding	YES	CCDS8573.1	1277	RADIA|SOMATICSNIPER|VARSCANS	.	TTTGCGTCTCA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF26,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	A:0	.	ENSP00000266542	A:0	6/6	.	.	.	.	.	.	.	.	rs771340998,COSM1198522	6/6	PASS	ENST00000266542	Transcript	.	.	ENSG00000139178	21265	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.124)	A:0	tolerated(0.44)	0,1	C1RL_HUMAN	C1RL	HGNC	.	.	UPI0000EE67FA	SNV	C1RL,missense_variant,p.Thr426Met,ENST00000266542,;C1RL,3_prime_UTR_variant,,ENST00000544702,;C1RL,intron_variant,,ENST00000545280,;C1RL,downstream_gene_variant,,ENST00000534950,;C1RL,downstream_gene_variant,,ENST00000543933,;C1R,upstream_gene_variant,,ENST00000540242,;C1R,upstream_gene_variant,,ENST00000540610,;C1R,upstream_gene_variant,,ENST00000536053,;C1R,upstream_gene_variant,,ENST00000538050,;C1R,upstream_gene_variant,,ENST00000542285,;C1R,upstream_gene_variant,,ENST00000542220,;C1R,upstream_gene_variant,,ENST00000543835,;C1R,upstream_gene_variant,,ENST00000541042,;C1R,upstream_gene_variant,,ENST00000535233,;C1RL,intron_variant,,ENST00000504702,;C1RL,intron_variant,,ENST00000539803,;C1R,upstream_gene_variant,,ENST00000536092,;C1RL,downstream_gene_variant,,ENST00000537833,;C1R,upstream_gene_variant,,ENST00000545466,;C1R,upstream_gene_variant,,ENST00000540394,;C1RL,downstream_gene_variant,,ENST00000534969,;C1R,upstream_gene_variant,,ENST00000543362,;	1370	237	193	SUCCESS
NAV3	89795	.	GRCh37	12	78225216	78225216	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	72	0	ENST00000397909.2:c.-26A>G		p.*9*	ENST00000397909	NM_001024383.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41815.1	.	RADIA|MUTECT|MUSE	.	TTGGCAGCAAG	NONE	.	.	.	.	.	ENSP00000446132	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,5_prime_UTR_variant,,ENST00000536525,;NAV3,5_prime_UTR_variant,,ENST00000397909,;NAV3,5_prime_UTR_variant,,ENST00000266692,;NAV3,5_prime_UTR_variant,,ENST00000228327,;NAV3,5_prime_UTR_variant,,ENST00000549464,;	148	72	58	SUCCESS
CEP290	80184	.	GRCh37	12	88479875	88479875	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	45	0	ENST00000552810.1:c.4378A>C	p.Ile1460Leu	p.I1460L	ENST00000552810	NM_025114.3	1460	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS55858.1	4378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAATTTTCC	NONE	.	.	hmmpanther:PTHR18879	.	.	ENSP00000448012	.	34/54	.	.	.	.	.	.	.	.	.	34/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Ile1460Leu,ENST00000552810,;CEP290,missense_variant,p.Ile520Leu,ENST00000397838,;CEP290,missense_variant,p.Ile1462Leu,ENST00000309041,;CEP290,missense_variant,p.Ile520Leu,ENST00000547691,;	4722	45	43	SUCCESS
UBE2N	7334	.	GRCh37	12	93835657	93835657	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	47	93	0	ENST00000318066.2:c.4G>A	p.Ala2Thr	p.A2T	ENST00000318066	NM_003348.3	2	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31875.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCATCT	NONE	.	.	hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79	.	.	ENSP00000316176	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000318066	Transcript	.	.	ENSG00000177889	12492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.1)	.	UBE2N_HUMAN	UBE2N	HGNC	F8VQQ8_HUMAN	.	UPI0000003EA3	SNV	UBE2N,missense_variant,p.Ala2Thr,ENST00000550657,;UBE2N,missense_variant,p.Ala2Thr,ENST00000552442,;UBE2N,missense_variant,p.Ala2Thr,ENST00000318066,;UBE2N,upstream_gene_variant,,ENST00000549833,;UBE2N,missense_variant,p.Ala2Thr,ENST00000549490,;	382	94	115	SUCCESS
FLT3	2322	.	GRCh37	13	28626760	28626760	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765227645	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	122	1	ENST00000241453.7:c.536A>G	p.Gln179Arg	p.Q179R	ENST00000241453	NM_004119.2	179	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS31953.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTGGTTT	NONE	.	.	PIRSF_domain:PIRSF000615	.	.	ENSP00000241453	.	5/24	.	.	.	.	.	.	.	.	rs765227645	5/24	PASS	ENST00000241453	Transcript	.	.	ENSG00000122025	3765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.49)	.	FLT3_HUMAN	FLT3	HGNC	.	.	UPI00001FC90B	SNV	FLT3,missense_variant,p.Gln179Arg,ENST00000241453,;FLT3,missense_variant,p.Gln179Arg,ENST00000537084,;FLT3,missense_variant,p.Gln179Arg,ENST00000380982,;FLT3,missense_variant,p.Gln179Arg,ENST00000380987,;	618	123	65	SUCCESS
FRY	10129	.	GRCh37	13	32850640	32850640	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	147	0	ENST00000542859.1:c.436G>A	p.Val146Met	p.V146M	ENST00000542859		146	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS41875.1	8326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGTGTTA	NONE	.	.	hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	.	.	ENSP00000369600	.	57/61	.	.	.	.	.	.	.	.	.	57/61	PASS	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.17)	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,missense_variant,p.Val146Met,ENST00000542859,;FRY,missense_variant,p.Val2776Met,ENST00000380250,;FRY,3_prime_UTR_variant,,ENST00000477712,;FRY,non_coding_transcript_exon_variant,,ENST00000602645,;	8822	147	74	SUCCESS
THBS1	7057	.	GRCh37	15	39886581	39886581	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	98	0	ENST00000260356.5:c.3445G>A	p.Gly1149Arg	p.G1149R	ENST00000260356	NM_003246.2	1149	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS32194.1	3445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAGGGTTG	NONE	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,missense_variant,p.Gly1149Arg,ENST00000260356,;CTD-2033D15.1,upstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000484734,;THBS1,non_coding_transcript_exon_variant,,ENST00000559746,;THBS1,downstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000490247,;	3610	98	84	SUCCESS
TMIGD1	388364	.	GRCh37	17	28656378	28656378	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	43	170	0	ENST00000328886.4:c.252C>T	p.Ser84=	p.S84=	ENST00000328886	NM_206832.1	84	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32605.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGGAATT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332404	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000328886	Transcript	.	.	ENSG00000182271	32431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMIG1_HUMAN	TMIGD1	HGNC	.	.	UPI00001D6918	SNV	TMIGD1,synonymous_variant,p.%3D,ENST00000328886,;TMIGD1,synonymous_variant,p.%3D,ENST00000538566,;	325	170	157	SUCCESS
KRT38	8687	.	GRCh37	17	39596873	39596873	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765108616	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	66	160	0	ENST00000246646.3:c.301A>G	p.Asn101Asp	p.N101D	ENST00000246646	NM_006771.3	101	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11392.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATTCAGGG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	.	.	ENSP00000246646	.	1/7	.	.	.	.	.	.	.	.	rs765108616	1/7	PASS	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	deleterious(0.02)	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,missense_variant,p.Asn101Asp,ENST00000246646,;	301	160	146	SUCCESS
TANC2	26115	.	GRCh37	17	61315195	61315196	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	49	0	ENST00000424789.2:c.572dup	p.Asn191LysfsTer13	p.N191Kfs*13	ENST00000424789	NM_025185.3	190	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS45754.1	568-569	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCTGAAAAT	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	insertion	TANC2,frameshift_variant,p.Asn191LysfsTer13,ENST00000389520,;TANC2,frameshift_variant,p.Asn191LysfsTer13,ENST00000424789,;TANC2,frameshift_variant,p.Asn120LysfsTer13,ENST00000583356,;AC037445.1,intron_variant,,ENST00000581421,;	572-573	49	51	SUCCESS
AKAP8	10270	.	GRCh37	19	15484748	15484748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	24	0	ENST00000269701.2:c.220G>T	p.Ala74Ser	p.A74S	ENST00000269701	NM_005858.3	74	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12329.1	220	MUTECT|MUSE	.	CATGGCAGGGG	NONE	.	.	hmmpanther:PTHR12190:SF5,hmmpanther:PTHR12190,Superfamily_domains:SSF56935	.	.	ENSP00000269701	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000269701	Transcript	.	.	ENSG00000105127	378	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.39)	.	AKAP8_HUMAN	AKAP8	HGNC	Q9UG73_HUMAN	.	UPI000012575C	SNV	AKAP8,missense_variant,p.Ala74Ser,ENST00000269701,;AKAP8,non_coding_transcript_exon_variant,,ENST00000595416,;AKAP8,intron_variant,,ENST00000599883,;AKAP8,intron_variant,,ENST00000537303,;AKAP8,upstream_gene_variant,,ENST00000598597,;	281	24	31	SUCCESS
ANO8	57719	.	GRCh37	19	17443815	17443815	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	89	0	ENST00000159087.4:c.510C>T	p.Arg170=	p.R170=	ENST00000159087	NM_020959.2	170	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32949.1	510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAGCGGAT	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF26	.	.	ENSP00000159087	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000159087	Transcript	.	.	ENSG00000074855	29329	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO8_HUMAN	ANO8	HGNC	.	.	UPI00001C200F	SNV	ANO8,synonymous_variant,p.%3D,ENST00000159087,;GTPBP3,upstream_gene_variant,,ENST00000361619,;GTPBP3,upstream_gene_variant,,ENST00000324894,;GTPBP3,upstream_gene_variant,,ENST00000358792,;GTPBP3,upstream_gene_variant,,ENST00000600625,;GTPBP3,upstream_gene_variant,,ENST00000596218,;GTPBP3,upstream_gene_variant,,ENST00000598038,;GTPBP3,upstream_gene_variant,,ENST00000595951,;GTPBP3,upstream_gene_variant,,ENST00000595381,;GTPBP3,upstream_gene_variant,,ENST00000600995,;GTPBP3,upstream_gene_variant,,ENST00000596941,;GTPBP3,upstream_gene_variant,,ENST00000598532,;GTPBP3,upstream_gene_variant,,ENST00000593297,;GTPBP3,upstream_gene_variant,,ENST00000596166,;GTPBP3,upstream_gene_variant,,ENST00000594345,;ANO8,synonymous_variant,p.%3D,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000602165,;GTPBP3,upstream_gene_variant,,ENST00000600610,;GTPBP3,upstream_gene_variant,,ENST00000599329,;GTPBP3,upstream_gene_variant,,ENST00000596001,;GTPBP3,upstream_gene_variant,,ENST00000598493,;GTPBP3,upstream_gene_variant,,ENST00000601261,;ANO8,downstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000601213,;GTPBP3,upstream_gene_variant,,ENST00000599429,;GTPBP3,upstream_gene_variant,,ENST00000594018,;	669	89	80	SUCCESS
AKT2	208	.	GRCh37	19	40742001	40742001	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	58	0	ENST00000392038.2:c.971A>G	p.Asp324Gly	p.D324G	ENST00000392038	NM_001626.4	324	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12552.1	971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTCCTCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF28,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000375892	.	11/14	.	.	.	.	.	.	.	.	COSM474741	11/14	PASS	ENST00000392038	Transcript	1	.	ENSG00000105221	392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	tolerated(0.07)	1	AKT2_HUMAN	AKT2	HGNC	Q05BV0_HUMAN,M0QZK3_HUMAN,J3QQM6_HUMAN,J3QLS6_HUMAN,J3QL45_HUMAN,J3KSY8_HUMAN,J3KRI8_HUMAN,E7EVP8_HUMAN,C9JIJ1_HUMAN,C9JIF6_HUMAN,C9JHS6_HUMAN,C9JC83_HUMAN,C9J258_HUMAN,B4DG79_HUMAN,B3KP61_HUMAN,A8MX96_HUMAN	.	UPI0000049EDB	SNV	AKT2,missense_variant,p.Asp262Gly,ENST00000579047,;AKT2,missense_variant,p.Asp324Gly,ENST00000392038,;AKT2,missense_variant,p.Asp180Gly,ENST00000578615,;AKT2,missense_variant,p.Asp324Gly,ENST00000424901,;AKT2,missense_variant,p.Asp281Gly,ENST00000311278,;AKT2,upstream_gene_variant,,ENST00000476247,;AKT2,upstream_gene_variant,,ENST00000497948,;AKT2,downstream_gene_variant,,ENST00000578310,;AKT2,non_coding_transcript_exon_variant,,ENST00000486647,;AKT2,non_coding_transcript_exon_variant,,ENST00000480878,;AKT2,non_coding_transcript_exon_variant,,ENST00000391845,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,non_coding_transcript_exon_variant,,ENST00000483166,;AKT2,non_coding_transcript_exon_variant,,ENST00000579345,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000580878,;AKT2,non_coding_transcript_exon_variant,,ENST00000496089,;AKT2,non_coding_transcript_exon_variant,,ENST00000578282,;AKT2,downstream_gene_variant,,ENST00000578975,;AKT2,downstream_gene_variant,,ENST00000537834,;AKT2,downstream_gene_variant,,ENST00000601166,;AKT2,upstream_gene_variant,,ENST00000489375,;AKT2,downstream_gene_variant,,ENST00000492463,;AKT2,downstream_gene_variant,,ENST00000491778,;	1270	58	79	SUCCESS
MEGF8	1954	.	GRCh37	19	42837807	42837807	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	110	0	ENST00000251268.6:c.238G>T	p.Glu80Ter	p.E80*	ENST00000251268		80	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12604.2	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGAGTGC	NONE	.	.	PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000334219	.	2/41	.	.	.	.	.	.	.	.	COSM3797145,COSM3797144	2/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,stop_gained,p.Glu80Ter,ENST00000334370,;MEGF8,stop_gained,p.Glu80Ter,ENST00000251268,;	873	110	103	SUCCESS
EPS8L1	54869	.	GRCh37	19	55598913	55598913	+	synonymous_variant	Silent	SNP	A	A	T	rs764119717	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	58	200	0	ENST00000201647.6:c.2103A>T	p.Ser701=	p.S701=	ENST00000201647	NM_133180.2	701	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12914.1	2103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCAGAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19	.	.	ENSP00000201647	.	20/20	.	.	.	.	.	.	.	.	rs764119717	20/20	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,synonymous_variant,p.%3D,ENST00000586329,;EPS8L1,synonymous_variant,p.%3D,ENST00000588359,;EPS8L1,synonymous_variant,p.%3D,ENST00000245618,;EPS8L1,synonymous_variant,p.%3D,ENST00000201647,;EPS8L1,synonymous_variant,p.%3D,ENST00000540810,;PPP1R12C,downstream_gene_variant,,ENST00000435544,;PPP1R12C,downstream_gene_variant,,ENST00000263433,;PPP1R12C,downstream_gene_variant,,ENST00000591938,;PPP1R12C,downstream_gene_variant,,ENST00000592993,;PPP1R12C,downstream_gene_variant,,ENST00000376393,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587901,;EPS8L1,downstream_gene_variant,,ENST00000592824,;EPS8L1,downstream_gene_variant,,ENST00000585347,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587715,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,downstream_gene_variant,,ENST00000587786,;PPP1R12C,downstream_gene_variant,,ENST00000590268,;EPS8L1,downstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592284,;	2159	200	192	SUCCESS
C3	718	.	GRCh37	19	6693481	6693481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	34	0	ENST00000245907.6:c.3172G>T	p.Ala1058Ser	p.A1058S	ENST00000245907	NM_000064.2	1058	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32883.1	3172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCCAGCT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000245907	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	tolerated(0.07)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Ala1058Ser,ENST00000245907,;C3,upstream_gene_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,;	3265	34	29	SUCCESS
VAV3	10451	.	GRCh37	1	108116734	108116734	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753925092	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	60	201	1	ENST00000370056.4:c.2437G>T	p.Asp813Tyr	p.D813Y	ENST00000370056	NM_006113.4	813	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS785.1	2437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCTCCTT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000359073	.	26/27	.	.	.	.	.	.	.	.	rs753925092	26/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Asp813Tyr,ENST00000370056,;VAV3,missense_variant,p.Asp253Tyr,ENST00000415432,;VAV3,missense_variant,p.Asp217Tyr,ENST00000544443,;VAV3,missense_variant,p.Asp841Tyr,ENST00000527011,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,3_prime_UTR_variant,,ENST00000529413,;	2712	203	128	SUCCESS
CPSF3L	0	.	GRCh37	1	1257366	1257366	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	71	249	0	ENST00000540437.1:c.-31-2A>C		p.X11_splice	ENST00000540437	NM_001256456.1	11		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS57960.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCCAC	NONE	.	.	.	.	.	ENSP00000445001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540437	Transcript	.	.	ENSG00000127054	26052	.	.	HIGH	2/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT11_HUMAN	CPSF3L	HGNC	J3QRY6_HUMAN,E9PNH9_HUMAN,E9PI75_HUMAN	.	UPI0000EE7E27	SNV	CPSF3L,splice_acceptor_variant,,ENST00000527719,;CPSF3L,splice_acceptor_variant,,ENST00000540437,;CPSF3L,splice_region_variant,,ENST00000498476,;CPSF3L,intron_variant,,ENST00000419704,;CPSF3L,intron_variant,,ENST00000450926,;CPSF3L,intron_variant,,ENST00000434694,;CPSF3L,intron_variant,,ENST00000545578,;CPSF3L,intron_variant,,ENST00000530031,;CPSF3L,intron_variant,,ENST00000435064,;CPSF3L,intron_variant,,ENST00000526332,;CPSF3L,intron_variant,,ENST00000534345,;CPSF3L,intron_variant,,ENST00000421495,;CPSF3L,intron_variant,,ENST00000411962,;GLTPD1,upstream_gene_variant,,ENST00000343938,;GLTPD1,upstream_gene_variant,,ENST00000488011,;RP5-890O3.9,upstream_gene_variant,,ENST00000444968,;CPSF3L,intron_variant,,ENST00000490853,;CPSF3L,intron_variant,,ENST00000532952,;CPSF3L,intron_variant,,ENST00000493534,;GLTPD1,upstream_gene_variant,,ENST00000464957,;CPSF3L,upstream_gene_variant,,ENST00000462432,;CPSF3L,splice_acceptor_variant,,ENST00000430786,;CPSF3L,splice_acceptor_variant,,ENST00000458452,;CPSF3L,intron_variant,,ENST00000531019,;CPSF3L,intron_variant,,ENST00000470679,;CPSF3L,intron_variant,,ENST00000532772,;CPSF3L,intron_variant,,ENST00000323275,;CPSF3L,intron_variant,,ENST00000488042,;CPSF3L,intron_variant,,ENST00000528879,;CPSF3L,intron_variant,,ENST00000525285,;CPSF3L,intron_variant,,ENST00000526904,;CPSF3L,intron_variant,,ENST00000429572,;CPSF3L,intron_variant,,ENST00000498173,;CPSF3L,intron_variant,,ENST00000496353,;CPSF3L,intron_variant,,ENST00000526797,;CPSF3L,intron_variant,,ENST00000526113,;CPSF3L,intron_variant,,ENST00000527098,;CPSF3L,upstream_gene_variant,,ENST00000531377,;CPSF3L,downstream_gene_variant,,ENST00000530233,;CPSF3L,upstream_gene_variant,,ENST00000525603,;	.	249	136	SUCCESS
TNFAIP8L2	79626	.	GRCh37	1	151131353	151131353	+	synonymous_variant	Silent	SNP	C	C	T	rs373860659	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	116	254	2	ENST00000368910.3:c.180C>T	p.Ile60=	p.I60=	ENST00000368910	NM_024575.4	60	atC/atT	0	G:0	.	.	.	.	T	I	protein_coding	YES	CCDS985.1	180	RADIA|VARSCANS	.	GTGATCAAGGA	NONE	byFrequency|byCluster	.	Pfam_domain:PF05527,hmmpanther:PTHR12757:SF4,hmmpanther:PTHR12757	.	G:0.0001	ENSP00000357906	.	2/2	.	.	.	.	.	.	.	.	rs373860659	2/2	PASS	ENST00000368910	Transcript	.	.	ENSG00000163154	26277	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP8L2_HUMAN	TNFAIP8L2	HGNC	.	.	UPI00000373B5	SNV	TNFAIP8L2,synonymous_variant,p.%3D,ENST00000368910,;SCNM1,intron_variant,,ENST00000602841,;LYSMD1,downstream_gene_variant,,ENST00000440902,;LYSMD1,downstream_gene_variant,,ENST00000368908,;	306	256	348	SUCCESS
FLG	2312	.	GRCh37	1	152278798	152278798	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767814906	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	579	217	622	3	ENST00000368799.1:c.8564G>A	p.Gly2855Glu	p.G2855E	ENST00000368799	NM_002016.1	2855	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS30860.1	8564	RADIA|VARSCANS	.	GCGACCCTGAG	BUFFER|p.R2857H|c.8570G>A|3	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs767814906	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.466)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gly2855Glu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8600	625	796	SUCCESS
CHTOP	26097	.	GRCh37	1	153610685	153610685	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	30	54	0	ENST00000368694.3:c.66-86G>T		p.*22*	ENST00000368694	NM_001206612.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1048.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGCTCCT	NONE	.	.	.	.	.	ENSP00000357683	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368694	Transcript	.	.	ENSG00000160679	24511	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHTOP_HUMAN	CHTOP	HGNC	.	.	UPI00000467F6	SNV	CHTOP,5_prime_UTR_variant,,ENST00000368687,;CHTOP,intron_variant,,ENST00000368690,;CHTOP,intron_variant,,ENST00000403433,;CHTOP,intron_variant,,ENST00000368694,;CHTOP,upstream_gene_variant,,ENST00000368686,;S100A13,upstream_gene_variant,,ENST00000368699,;RP1-178F15.4,upstream_gene_variant,,ENST00000469931,;CHTOP,non_coding_transcript_exon_variant,,ENST00000495554,;RP1-178F15.5,upstream_gene_variant,,ENST00000484413,;RP1-178F15.5,upstream_gene_variant,,ENST00000472233,;RP1-178F15.5,upstream_gene_variant,,ENST00000497086,;	.	54	52	SUCCESS
CD1B	910	.	GRCh37	1	158301185	158301185	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1021805831	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	59	243	0	ENST00000368168.3:c.29C>A	p.Ala10Asp	p.A10D	ENST00000368168	NM_001764.2	10	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1176.1	29	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGCTAAC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16675:SF130,hmmpanther:PTHR16675	.	.	ENSP00000357150	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.16)	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,missense_variant,p.Ala10Asp,ENST00000368168,;CD1B,upstream_gene_variant,,ENST00000451207,;	137	243	268	SUCCESS
DARC	0	.	GRCh37	1	159175737	159175737	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	87	0	ENST00000368122.2:c.508A>T	p.Thr170Ser	p.T170S	ENST00000368122	NM_002036.3	170	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS44252.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCACTGTG	BUFFER|p.L169L|c.507G>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559	.	.	ENSP00000357103	.	1/1	.	.	.	.	.	.	.	.	COSM3976354,COSM3976353	1/1	PASS	ENST00000368121	Transcript	.	.	ENSG00000213088	4035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.011)	.	tolerated(0.29)	1,1	ACKR1_HUMAN	DARC	HGNC	Q5Y7A1_HUMAN,Q5JY94_HUMAN,Q4VBN9_HUMAN	.	UPI000013E1B0	SNV	DARC,missense_variant,p.Thr170Ser,ENST00000368122,;DARC,missense_variant,p.Thr170Ser,ENST00000537147,;DARC,missense_variant,p.Thr172Ser,ENST00000368121,;CADM3,downstream_gene_variant,,ENST00000368124,;CADM3,downstream_gene_variant,,ENST00000368125,;DARC,downstream_gene_variant,,ENST00000435307,;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;CADM3,downstream_gene_variant,,ENST00000497636,;	537	87	99	SUCCESS
ANGPTL1	9068	.	GRCh37	1	178822882	178822882	+	synonymous_variant	Silent	SNP	A	A	G	rs1358532602	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	100	0	ENST00000234816.2:c.864T>C	p.His288=	p.H288=	ENST00000234816	NM_004673.3	288	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS1327.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGAATGCCC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF25,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000234816	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000234816	Transcript	.	.	ENSG00000116194	489	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGL1_HUMAN	ANGPTL1	HGNC	.	.	UPI000004C64E	SNV	ANGPTL1,synonymous_variant,p.%3D,ENST00000234816,;ANGPTL1,synonymous_variant,p.%3D,ENST00000367629,;RALGPS2,intron_variant,,ENST00000324778,;RALGPS2,intron_variant,,ENST00000367635,;RALGPS2,intron_variant,,ENST00000367634,;RALGPS2,intron_variant,,ENST00000495034,;	1312	100	98	SUCCESS
CACNA1E	777	.	GRCh37	1	181767517	181767517	+	synonymous_variant	Silent	SNP	G	G	A	rs377180948	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	74	1	ENST00000367573.2:c.6489G>A	p.Pro2163=	p.P2163=	ENST00000367573	NM_001205293.1	2163	ccG/ccA	0	T:0.0005	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS55664.1	6489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCCAAA	BUFFER|p.P2120L|c.6359C>T|3,BUFFER|p.P2163L|c.6488C>T|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	A:0	T:0	ENSP00000356545	A:0	48/48	.	.	.	.	.	.	.	.	rs377180948,COSM80956,COSM3934317,COSM3934318,COSM3934316	48/48	PASS	ENST00000367573	Transcript	.	A:0.0002	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	A:0	.	0,1,1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;	6489	75	98	SUCCESS
TGFB2	7042	.	GRCh37	1	218609331	218609331	+	synonymous_variant	Silent	SNP	A	A	G	rs1271642210	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	65	0	ENST00000366930.4:c.774A>G	p.Thr258=	p.T258=	ENST00000366930	NM_003238.3	258	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS44318.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACATATAC	NONE	.	.	PIRSF_domain:PIRSF001787,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141	.	.	ENSP00000355896	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000366929	Transcript	.	.	ENSG00000092969	11768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGFB2_HUMAN	TGFB2	HGNC	.	.	UPI000016B0C1	SNV	TGFB2,synonymous_variant,p.%3D,ENST00000366929,;TGFB2,synonymous_variant,p.%3D,ENST00000366930,;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;TGFB2,downstream_gene_variant,,ENST00000488793,;	1325	65	69	SUCCESS
DEGS1	8560	.	GRCh37	1	224377758	224377758	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	71	0	ENST00000323699.4:c.562A>T	p.Ile188Phe	p.I188F	ENST00000323699	NM_003676.3	188	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS1540.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTATCAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12879,hmmpanther:PTHR12879:SF2,Pfam_domain:PF00487,PIRSF_domain:PIRSF017228	.	.	ENSP00000316476	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000323699	Transcript	.	.	ENSG00000143753	13709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.21)	.	DEGS1_HUMAN	DEGS1	HGNC	.	.	UPI000007137B	SNV	DEGS1,missense_variant,p.Ile167Phe,ENST00000415210,;DEGS1,missense_variant,p.Ile188Phe,ENST00000391877,;DEGS1,missense_variant,p.Ile188Phe,ENST00000323699,;DEGS1,downstream_gene_variant,,ENST00000465848,;DEGS1,upstream_gene_variant,,ENST00000498813,;	728	71	80	SUCCESS
CCDC30	728621	.	GRCh37	1	43076659	43076659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	58	0	ENST00000340612.4:c.1394G>A	p.Ser465Asn	p.S465N	ENST00000340612		465	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS30690.1	1394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGCAACC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000397035	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000428554	Transcript	.	.	ENSG00000186409	26103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.31)	.	CCD30_HUMAN	CCDC30	HGNC	D6RFH8_HUMAN	.	UPI0000458A0B	SNV	CCDC30,missense_variant,p.Ser254Asn,ENST00000390640,;CCDC30,missense_variant,p.Ser254Asn,ENST00000507855,;CCDC30,missense_variant,p.Ser465Asn,ENST00000428554,;CCDC30,missense_variant,p.Ser465Asn,ENST00000340612,;CCDC30,missense_variant,p.Ser465Asn,ENST00000342022,;CCDC30,missense_variant,p.Ser163Asn,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;	2537	58	34	SUCCESS
EBF4	57593	.	GRCh37	20	2732565	2732565	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	18	0	ENST00000609451.1:c.1108-3C>T		p.X370_splice	ENST00000609451		370		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46573.1	.	RADIA|MUSE	.	GTCCCCAGGAA	NONE	.	.	.	.	.	ENSP00000370022	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380648	Transcript	.	.	ENSG00000088881	29278	.	.	LOW	12/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EBF4	HGNC	Q7Z5T1_HUMAN,E9PEI2_HUMAN	.	UPI00001C2038	SNV	EBF4,splice_region_variant,,ENST00000380648,;EBF4,splice_region_variant,,ENST00000342725,;EBF4,splice_region_variant,,ENST00000609451,;EBF4,intron_variant,,ENST00000463145,;EBF4,splice_region_variant,,ENST00000491472,;EBF4,upstream_gene_variant,,ENST00000477287,;EBF4,downstream_gene_variant,,ENST00000469215,;EBF4,upstream_gene_variant,,ENST00000481662,;EBF4,splice_region_variant,,ENST00000609967,;EBF4,splice_region_variant,,ENST00000449079,;	.	18	41	SUCCESS
NFS1	9054	.	GRCh37	20	34263098	34263098	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200454792	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	70	117	0	ENST00000374092.4:c.817C>T	p.Arg273Trp	p.R273W	ENST00000374092	NM_021100.4	273	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS13262.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGCGAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF005572,Pfam_domain:PF00266,TIGRFAM_domain:TIGR02006,Gene3D:3.40.640.10,hmmpanther:PTHR11601,hmmpanther:PTHR11601:SF20,HAMAP:MF_00331	A:0.001	.	ENSP00000363205	A:0	8/13	.	.	.	.	.	.	.	.	rs200454792	8/13	PASS	ENST00000374092	Transcript	1	A:0.0002	ENSG00000244005	15910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	deleterious(0)	.	NFS1_HUMAN	NFS1	HGNC	Q5QP19_HUMAN,B4DNL7_HUMAN,A2A2M1_HUMAN	.	UPI000013D34D	SNV	NFS1,missense_variant,p.Arg213Trp,ENST00000397425,;NFS1,missense_variant,p.Arg213Trp,ENST00000374085,;NFS1,missense_variant,p.Arg273Trp,ENST00000374092,;NFS1,missense_variant,p.Arg222Trp,ENST00000541387,;NFS1,missense_variant,p.Arg71Trp,ENST00000540053,;NFS1,non_coding_transcript_exon_variant,,ENST00000489163,;NFS1,upstream_gene_variant,,ENST00000498084,;NFS1,non_coding_transcript_exon_variant,,ENST00000480655,;NFS1,intron_variant,,ENST00000440385,;NFS1,upstream_gene_variant,,ENST00000471137,;RP1-309K20.6,upstream_gene_variant,,ENST00000541176,;RP1-309K20.6,upstream_gene_variant,,ENST00000454607,;RP1-309K20.6,upstream_gene_variant,,ENST00000441563,;	888	117	138	SUCCESS
RBL1	5933	.	GRCh37	20	35683995	35683995	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775397215	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	68	0	ENST00000373664.3:c.1428G>A	p.Met476Ile	p.M476I	ENST00000373664	NM_002895.3	476	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13289.1	1428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCATTAC	NONE	.	.	hmmpanther:PTHR13742:SF20,hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000362768	.	11/22	.	.	.	.	.	.	.	.	rs775397215,COSM3545980	11/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.012)	.	tolerated(1)	0,1	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,missense_variant,p.Met476Ile,ENST00000373664,;RBL1,missense_variant,p.Met476Ile,ENST00000344359,;RBL1,downstream_gene_variant,,ENST00000525052,;	1495	68	70	SUCCESS
IGLV4-60	28785	.	GRCh37	22	22516956	22516956	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747059706	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	48	174	0	ENST00000390284.2:c.244G>A	p.Gly82Arg	p.G82R	ENST00000390284		82	Gga/Aga	0	.	.	.	.	.	A	G/R	IG_V_gene	YES	.	244	RADIA|MUTECT|MUSE	.	GGAGCGGAGTT	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF9,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374819	.	2/2	.	.	.	.	.	.	.	.	rs747059706	2/2	PASS	ENST00000390284	Transcript	.	.	ENSG00000211639	5920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.352)	.	deleterious(0.03)	.	.	IGLV4-60	HGNC	Q5NV79_HUMAN	.	UPI0001611017	SNV	IGLV4-60,missense_variant,p.Gly82Arg,ENST00000390284,;LL22NC03-30E12.11,downstream_gene_variant,,ENST00000440562,;	244	174	162	SUCCESS
POM121L1P	25812	.	GRCh37	22	22985207	22985207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	47	185	0	ENST00000402027.1:n.1738C>A		p.*580*	ENST00000402027				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13802.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGCCCCT	NONE	.	3609	.	.	.	ENSP00000419751	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000480559	Transcript	.	.	ENSG00000100121	18596	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGTL2_HUMAN	GGTLC2	HGNC	.	.	UPI00004210AD	SNV	GGTLC2,upstream_gene_variant,,ENST00000480559,;GGTLC2,upstream_gene_variant,,ENST00000448514,;POM121L1P,non_coding_transcript_exon_variant,,ENST00000402027,;GGTLC2,upstream_gene_variant,,ENST00000417145,;POM121L1P,non_coding_transcript_exon_variant,,ENST00000605258,;	.	185	148	SUCCESS
NBAS	51594	.	GRCh37	2	15378653	15378653	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	112	0	ENST00000281513.5:c.5882C>G	p.Ser1961Ter	p.S1961*	ENST00000281513	NM_015909.3	1961	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS1685.1	5882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTGATTTC	NONE	.	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	45/52	.	.	.	.	.	.	.	.	.	45/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,stop_gained,p.Ser1841Ter,ENST00000441750,;NBAS,stop_gained,p.Ser1961Ter,ENST00000281513,;NBAS,stop_gained,p.Ser1009Ter,ENST00000442506,;NBAS,stop_gained,p.Ser53Ter,ENST00000417461,;	5908	112	72	SUCCESS
TTN	7273	.	GRCh37	2	179499955	179499955	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	117	0	ENST00000591111.1:c.37038A>C	p.Glu12346Asp	p.E12346D	ENST00000591111		12346	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS59435.1	41961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATTTCTGC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	228/363	.	.	.	.	.	.	.	.	.	228/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu5047Asp,ENST00000359218,;TTN,missense_variant,p.Glu12346Asp,ENST00000591111,;TTN,missense_variant,p.Glu13987Asp,ENST00000589042,;TTN,missense_variant,p.Glu11419Asp,ENST00000342992,;TTN,missense_variant,p.Glu5114Asp,ENST00000342175,;TTN,missense_variant,p.Glu4922Asp,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000426232,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;	42186	117	105	SUCCESS
APOB	338	.	GRCh37	2	21229380	21229381	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	169	44	178	0	ENST00000233242.1:c.10359dup	p.Val3454CysfsTer8	p.V3454Cfs*8	ENST00000233242	NM_000384.2	3453	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1703.1	10359-10360	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGACAGTAG	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.Val3454CysfsTer8,ENST00000233242,;	10487-10488	178	213	SUCCESS
CYP27A1	1593	.	GRCh37	2	219674376	219674376	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	67	190	0	ENST00000258415.4:c.332C>T	p.Ala111Val	p.A111V	ENST00000258415	NM_000784.3	111	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2423.1	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCCCCGC	NONE	.	.	hmmpanther:PTHR24291:SF6,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000258415	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000258415	Transcript	.	.	ENSG00000135929	2605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	tolerated(0.14)	.	CP27A_HUMAN	CYP27A1	HGNC	C9J1K5_HUMAN	.	UPI00001281BD	SNV	CYP27A1,missense_variant,p.Ala17Val,ENST00000411688,;CYP27A1,missense_variant,p.Ala111Val,ENST00000258415,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000494263,;CYP27A1,intron_variant,,ENST00000466602,;CYP27A1,intron_variant,,ENST00000445971,;	759	190	184	SUCCESS
SULT6B1	391365	.	GRCh37	2	37414600	37414600	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	35	0	ENST00000535679.1:c.210G>T	p.Trp70Cys	p.W70C	ENST00000535679		70	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33182.1	96	MUTECT|MUSE	.	AGAATCCAGTT	NONE	.	.	hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF55,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000260637	.	2/7	.	.	.	.	.	.	.	.	COSM3581433,COSM3581434	2/7	PASS	ENST00000260637	Transcript	.	.	ENSG00000138068	33433	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	ST6B1_HUMAN	SULT6B1	HGNC	.	.	UPI0000041280	SNV	SULT6B1,missense_variant,p.Trp70Cys,ENST00000535679,;SULT6B1,missense_variant,p.Trp32Cys,ENST00000407963,;SULT6B1,missense_variant,p.Trp32Cys,ENST00000260637,;SULT6B1,missense_variant,p.Trp70Cys,ENST00000379149,;SULT6B1,downstream_gene_variant,,ENST00000433192,;SULT6B1,downstream_gene_variant,,ENST00000420611,;SULT6B1,downstream_gene_variant,,ENST00000416345,;	117	35	19	SUCCESS
LHCGR	3973	.	GRCh37	2	48958372	48958372	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	28	0	ENST00000294954.7:c.227T>G	p.Ile76Arg	p.I76R	ENST00000294954	NM_000233.3	76	aTa/aGa	0	.	.	.	.	.	C	I/R	protein_coding	YES	CCDS1842.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATGACC	NONE	.	.	hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Gene3D:3.80.10.10,Pfam_domain:PF13306,Superfamily_domains:SSF52058	.	.	ENSP00000294954	.	2/11	.	.	.	.	.	.	.	.	COSM1582532	2/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.251)	.	tolerated(0.41)	1	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,missense_variant,p.Ile76Arg,ENST00000403273,;LHCGR,missense_variant,p.Ile76Arg,ENST00000405626,;LHCGR,missense_variant,p.Ile42Arg,ENST00000428232,;LHCGR,missense_variant,p.Ile76Arg,ENST00000344775,;LHCGR,missense_variant,p.Ile76Arg,ENST00000401907,;LHCGR,missense_variant,p.Ile76Arg,ENST00000294954,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,missense_variant,p.Ile76Arg,ENST00000602369,;	249	28	25	SUCCESS
SPTBN1	6711	.	GRCh37	2	54876897	54876897	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	72	266	0	ENST00000356805.4:c.5348T>G	p.Leu1783Arg	p.L1783R	ENST00000356805	NM_003128.2	1783	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS33198.1	5348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCAATG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	26/36	.	.	.	.	.	.	.	.	.	26/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Leu1770Arg,ENST00000333896,;SPTBN1,missense_variant,p.Leu1783Arg,ENST00000356805,;SPTBN1,upstream_gene_variant,,ENST00000496323,;	5629	266	238	SUCCESS
MBOAT2	129642	.	GRCh37	2	9022691	9022691	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	44	159	1	ENST00000305997.3:c.456G>A	p.Met152Ile	p.M152I	ENST00000305997	NM_138799.2	152	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1660.1	456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAACATCCC	NONE	.	.	Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7	.	.	ENSP00000302177	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000305997	Transcript	.	.	ENSG00000143797	25193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.29)	.	MBOA2_HUMAN	MBOAT2	HGNC	B0AZU0_HUMAN	.	UPI0000231CFB	SNV	MBOAT2,missense_variant,p.Met129Ile,ENST00000462696,;MBOAT2,missense_variant,p.Met152Ile,ENST00000305997,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,3_prime_UTR_variant,,ENST00000477073,;	655	160	141	SUCCESS
GOLGB1	2804	.	GRCh37	3	121416717	121416717	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	123	0	ENST00000340645.5:c.2638C>T	p.Gln880Ter	p.Q880*	ENST00000340645	NM_001256487.1	880	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS58847.1	2653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGATCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,stop_gained,p.Gln885Ter,ENST00000393667,;GOLGB1,stop_gained,p.Gln880Ter,ENST00000340645,;GOLGB1,stop_gained,p.Gln844Ter,ENST00000494517,;GOLGB1,stop_gained,p.Gln751Ter,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	2764	123	88	SUCCESS
FAM86HP	729375	.	GRCh37	3	129823040	129823040	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	351	148	584	0	ENST00000513466.1:n.411G>A		p.*137*	ENST00000513466				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCCCATT	NONE	.	.	.	.	.	.	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000513466	Transcript	.	.	ENSG00000253540	42359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM86HP	HGNC	.	.	.	SNV	FAM86HP,non_coding_transcript_exon_variant,,ENST00000500074,;FAM86HP,non_coding_transcript_exon_variant,,ENST00000515245,;ALG1L2,intron_variant,,ENST00000511726,;FAM86HP,upstream_gene_variant,,ENST00000511564,;FAM86HP,upstream_gene_variant,,ENST00000506448,;FAM86HP,non_coding_transcript_exon_variant,,ENST00000513466,;	411	584	500	SUCCESS
NLGN1	22871	.	GRCh37	3	173998531	173998531	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	49	173	0	ENST00000457714.1:c.1910G>T	p.Arg637Ile	p.R637I	ENST00000457714	NM_014932.3	637	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS3222.1	1910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGACCTA	NONE	.	.	.	.	.	ENSP00000392500	.	7/7	.	.	.	.	.	.	.	.	COSM2149815,COSM2149816	7/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.571)	.	tolerated(0.44)	1,1	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Arg677Ile,ENST00000401917,;NLGN1,missense_variant,p.Arg637Ile,ENST00000457714,;NLGN1,missense_variant,p.Arg637Ile,ENST00000361589,;NLGN1,missense_variant,p.Arg637Ile,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;	2339	173	148	SUCCESS
KCNMB3	27094	.	GRCh37	3	178984440	178984440	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	79	0	ENST00000349697.2:c.59G>A	p.Gly20Glu	p.G20E	ENST00000349697	NM_171828.2	20	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	.	CCDS3225.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCCCTGG	NONE	.	.	hmmpanther:PTHR10258:SF4,hmmpanther:PTHR10258	.	.	ENSP00000327866	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000349697	Transcript	.	.	ENSG00000171121	6287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.04)	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA9C	SNV	KCNMB3,missense_variant,p.Gly20Glu,ENST00000349697,;KCNMB3,missense_variant,p.Gly20Glu,ENST00000497599,;	320	79	61	SUCCESS
EHHADH	1962	.	GRCh37	3	184947229	184947229	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	109	0	ENST00000231887.3:c.454A>G	p.Ile152Val	p.I152V	ENST00000231887	NM_001166415.1	152	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33901.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAATTAAGT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096	.	.	ENSP00000231887	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.356)	.	tolerated(0.06)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Ile56Val,ENST00000456310,;EHHADH,missense_variant,p.Ile152Val,ENST00000231887,;EHHADH,non_coding_transcript_exon_variant,,ENST00000475987,;EHHADH,intron_variant,,ENST00000483104,;	530	109	96	SUCCESS
GADL1	339896	.	GRCh37	3	30819694	30819694	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs145224145	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	67	265	0	ENST00000282538.5:c.1369G>T	p.Glu457Ter	p.E457*	ENST00000282538	NM_207359.2	457	Gag/Tag	0	.	T:0.0008	.	T:0	.	A	E/*	protein_coding	YES	CCDS2649.2	1369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCGGGTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	T:0	.	ENSP00000282538	T:0	14/15	.	.	.	.	.	.	.	.	rs145224145,COSM3765078,COSM3765077	14/15	PASS	ENST00000282538	Transcript	.	T:0.0002	ENSG00000144644	27949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0	.	0,1,1	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,stop_gained,p.Glu457Ter,ENST00000282538,;GADL1,non_coding_transcript_exon_variant,,ENST00000498387,;	1520	265	205	SUCCESS
UBP1	7342	.	GRCh37	3	33444346	33444346	+	synonymous_variant	Silent	SNP	G	G	C	rs182819320	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	50	1	ENST00000283628.5:c.978C>G	p.Ser326=	p.S326=	ENST00000283628		326	tcC/tcG	0	.	A:0	.	A:0	.	C	S	protein_coding	YES	CCDS2659.1	978	MUTECT|MUSE	.	GCTGGGGAAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF13	A:0.001	.	ENSP00000283629	A:0	9/16	.	.	.	.	.	.	.	.	rs182819320	9/16	PASS	ENST00000283629	Transcript	.	A:0.0002	ENSG00000153560	12507	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	UBIP1_HUMAN	UBP1	HGNC	C9JWL3_HUMAN	.	UPI00000701D7	SNV	UBP1,synonymous_variant,p.%3D,ENST00000283628,;UBP1,synonymous_variant,p.%3D,ENST00000283629,;UBP1,synonymous_variant,p.%3D,ENST00000447368,;UBP1,non_coding_transcript_exon_variant,,ENST00000467613,;UBP1,non_coding_transcript_exon_variant,,ENST00000486388,;FBXL2,intron_variant,,ENST00000463736,;UBP1,synonymous_variant,p.%3D,ENST00000411650,;UBP1,upstream_gene_variant,,ENST00000492136,;UBP1,upstream_gene_variant,,ENST00000490112,;	1508	51	36	SUCCESS
SNRK	54861	.	GRCh37	3	43381915	43381915	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs772506538	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	63	185	0	ENST00000296088.7:c.868C>G	p.Leu290Val	p.L290V	ENST00000296088	NM_017719.4	290	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43075.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCTCTCG	NONE	.	.	hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343,Superfamily_domains:SSF56112	.	.	ENSP00000296088	.	5/7	.	.	.	.	.	.	.	.	rs772506538	5/7	PASS	ENST00000296088	Transcript	.	.	ENSG00000163788	30598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.15)	.	SNRK_HUMAN	SNRK	HGNC	E7EUC4_HUMAN	.	UPI00000558E4	SNV	SNRK,missense_variant,p.Leu290Val,ENST00000296088,;SNRK,missense_variant,p.Leu290Val,ENST00000454177,;SNRK,missense_variant,p.Leu84Val,ENST00000437827,;SNRK,missense_variant,p.Leu290Val,ENST00000429705,;SNRK,upstream_gene_variant,,ENST00000468628,;SNRK,non_coding_transcript_exon_variant,,ENST00000484791,;SNRK,upstream_gene_variant,,ENST00000481892,;	1172	185	197	SUCCESS
TLR9	54106	.	GRCh37	3	52256679	52256679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	77	1	ENST00000360658.2:c.1653C>A	p.Asp551Glu	p.D551E	ENST00000360658	NM_017442.3	551	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	.	2115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGTCCAG	NONE	.	.	hmmpanther:PTHR24373:SF37,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000417517	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000494383	Transcript	.	.	ENSG00000173366	15633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	TLR9	Uniprot_gn	C3W5P5_HUMAN	.	UPI0001B795AC	SNV	TLR9,missense_variant,p.Asp705Glu,ENST00000494383,;TLR9,missense_variant,p.Asp575Glu,ENST00000597542,;TLR9,missense_variant,p.Asp551Glu,ENST00000360658,;TLR9,downstream_gene_variant,,ENST00000478201,;	2113	78	117	SUCCESS
OR5K3	403277	.	GRCh37	3	98109590	98109590	+	synonymous_variant	Silent	SNP	G	G	C	rs771561906	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	52	274	0	ENST00000383695.1:c.81G>C	p.Leu27=	p.L27=	ENST00000383695	NM_001005516.1	27	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33803.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGTTTGT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF247,hmmpanther:PTHR26452	.	.	ENSP00000373194	.	1/1	.	.	.	.	.	.	.	.	rs771561906	1/1	PASS	ENST00000383695	Transcript	.	.	ENSG00000206536	31290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5K3_HUMAN	OR5K3	HGNC	.	.	UPI000044D40F	SNV	OR5K3,synonymous_variant,p.%3D,ENST00000383695,;RP11-325B23.2,intron_variant,,ENST00000508616,;	81	274	198	SUCCESS
ST3GAL6	10402	.	GRCh37	3	98487331	98487331	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	170	0	ENST00000394162.1:c.47A>C	p.Tyr16Ser	p.Y16S	ENST00000394162	NM_006100.3	16	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS2933.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATTATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13713:SF8,hmmpanther:PTHR13713,PIRSF_domain:PIRSF005557	.	.	ENSP00000377717	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000394162	Transcript	.	.	ENSG00000064225	18080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.01)	.	SIA10_HUMAN	ST3GAL6	HGNC	C9JXM2_HUMAN,C9JWJ3_HUMAN,C9J0E2_HUMAN	.	UPI0000073CE3	SNV	ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000486334,;ST3GAL6,missense_variant,p.Tyr39Ser,ENST00000492254,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000460774,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000394162,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000483910,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000468553,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000485391,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000497008,;ST3GAL6,5_prime_UTR_variant,,ENST00000265261,;ST3GAL6,upstream_gene_variant,,ENST00000485145,;ST3GAL6,upstream_gene_variant,,ENST00000477574,;ST3GAL6,intron_variant,,ENST00000466482,;ST3GAL6,intron_variant,,ENST00000462152,;ST3GAL6,intron_variant,,ENST00000480133,;ST3GAL6,upstream_gene_variant,,ENST00000474595,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000469105,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000476833,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000495376,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000486249,;ST3GAL6,3_prime_UTR_variant,,ENST00000497621,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000489112,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000490684,;	514	170	108	SUCCESS
CENPE	1062	.	GRCh37	4	104066455	104066455	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	49	0	ENST00000265148.3:c.4609A>G	p.Ile1537Val	p.I1537V	ENST00000265148	NM_001813.2	1537	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34042.1	4609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATATTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	32/49	.	.	.	.	.	.	.	.	.	32/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Ile1512Val,ENST00000380026,;CENPE,missense_variant,p.Ile1537Val,ENST00000265148,;CENPE,downstream_gene_variant,,ENST00000515478,;	4699	49	44	SUCCESS
OTOP1	133060	.	GRCh37	4	4199475	4199475	+	synonymous_variant	Silent	SNP	C	C	A	rs1405393364	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	49	169	0	ENST00000296358.4:c.1086G>T	p.Gly362=	p.G362=	ENST00000296358	NM_177998.1	362	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3372.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCCCCAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000296358	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,synonymous_variant,p.%3D,ENST00000296358,;	1111	169	162	SUCCESS
CTNND2	1501	.	GRCh37	5	11117631	11117631	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	64	211	0	ENST00000304623.8:c.2208T>A	p.Cys736Ter	p.C736*	ENST00000304623	NM_001332.2	736	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS3881.1	2208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCACACTC	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,stop_gained,p.Cys736Ter,ENST00000304623,;CTNND2,stop_gained,p.Cys736Ter,ENST00000359640,;CTNND2,stop_gained,p.Cys399Ter,ENST00000503622,;CTNND2,stop_gained,p.Cys645Ter,ENST00000511377,;CTNND2,stop_gained,p.Cys303Ter,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,stop_gained,p.Cys490Ter,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2398	212	203	SUCCESS
ADAM19	8728	.	GRCh37	5	156918883	156918885	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	183	0	ENST00000517905.1:c.1944_1946del	p.Phe649del	p.F649del	ENST00000517905		648	ttCTTt/ttt	0	.	.	.	.	.	-	FF/F	protein_coding	YES	CCDS4338.1	1944-1946	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTCAAAGAAGGA	NONE	.	.	hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905	.	.	ENSP00000257527	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000257527	Transcript	.	.	ENSG00000135074	197	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA19_HUMAN	ADAM19	HGNC	.	.	UPI000013CF6A	deletion	ADAM19,inframe_deletion,p.Phe382del,ENST00000430702,;ADAM19,inframe_deletion,p.Phe651del,ENST00000394020,;ADAM19,inframe_deletion,p.Phe649del,ENST00000517905,;ADAM19,inframe_deletion,p.Phe649del,ENST00000257527,;ADAM19,inframe_deletion,p.Phe220del,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	2023-2025	183	141	SUCCESS
CANX	821	.	GRCh37	5	179150758	179150758	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	131	0	ENST00000247461.4:c.1496T>A	p.Ile499Asn	p.I499N	ENST00000247461	NM_001746.3	499	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS4447.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTATCCTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF11	.	.	ENSP00000247461	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000247461	Transcript	.	.	ENSG00000127022	1473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	deleterious(0.01)	.	CALX_HUMAN	CANX	HGNC	D6RHJ3_HUMAN,D6RFW4_HUMAN,D6RFL1_HUMAN,D6RDP7_HUMAN,D6RB85_HUMAN,D6RAU8_HUMAN,D6RAQ8_HUMAN,B4E2T8_HUMAN	.	UPI000000D9F9	SNV	CANX,missense_variant,p.Ile499Asn,ENST00000247461,;CANX,missense_variant,p.Ile534Asn,ENST00000415618,;CANX,missense_variant,p.Ile499Asn,ENST00000504734,;CANX,missense_variant,p.Ile391Asn,ENST00000512607,;CANX,missense_variant,p.Ile499Asn,ENST00000452673,;CANX,downstream_gene_variant,,ENST00000502673,;CANX,upstream_gene_variant,,ENST00000503303,;CANX,3_prime_UTR_variant,,ENST00000514032,;CANX,non_coding_transcript_exon_variant,,ENST00000505090,;	1696	131	92	SUCCESS
RAD1	5810	.	GRCh37	5	34914910	34914910	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1230877171	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	63	275	1	ENST00000341754.4:c.88A>G	p.Ile30Val	p.I30V	ENST00000341754		30	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3905.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATAGTGG	NONE	.	.	Prints_domain:PR01245,Gene3D:3.70.10.10,Pfam_domain:PF02144,hmmpanther:PTHR10870	.	.	ENSP00000371469	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000382038	Transcript	.	.	ENSG00000113456	9806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.17)	.	RAD1_HUMAN	RAD1	HGNC	.	.	UPI000003159B	SNV	RAD1,missense_variant,p.Ile30Val,ENST00000341754,;RAD1,missense_variant,p.Ile30Val,ENST00000382038,;BRIX1,upstream_gene_variant,,ENST00000336767,;BRIX1,upstream_gene_variant,,ENST00000506023,;RAD1,missense_variant,p.Ile30Val,ENST00000511456,;RAD1,missense_variant,p.Ile30Val,ENST00000325577,;RAD1,missense_variant,p.Ile30Val,ENST00000513914,;RAD1,non_coding_transcript_exon_variant,,ENST00000506311,;BRIX1,upstream_gene_variant,,ENST00000510834,;BRIX1,upstream_gene_variant,,ENST00000515798,;BRIX1,upstream_gene_variant,,ENST00000510960,;RAD1,upstream_gene_variant,,ENST00000512192,;	1508	276	236	SUCCESS
KPNA5	3841	.	GRCh37	6	117019926	117019927	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	97	0	ENST00000356348.1:c.401_402del	p.Lys134IlefsTer3	p.K134Ifs*3	ENST00000356348	NM_002269.2	134	AAa/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS5111.1	400-401	INDELOCATOR|VARSCANI	.	TTTGTGAAATTTC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10	.	.	ENSP00000357552	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000368564	Transcript	.	.	ENSG00000196911	6398	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMA6_HUMAN	KPNA5	HGNC	Q5TD90_HUMAN	.	UPI000000DBE6	deletion	KPNA5,frameshift_variant,p.Lys134IlefsTer3,ENST00000356348,;KPNA5,frameshift_variant,p.Lys134IlefsTer3,ENST00000368564,;KPNA5,frameshift_variant,p.Lys131IlefsTer3,ENST00000413340,;	548-549	98	39	SUCCESS
NOL7	51406	.	GRCh37	6	13618350	13618350	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	51	191	0	ENST00000451315.2:c.479T>C	p.Val160Ala	p.V160A	ENST00000451315	NM_016167.3	160	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4528.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTACAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32337	.	.	ENSP00000405674	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000451315	Transcript	.	.	ENSG00000225921	21040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.75)	.	NOL7_HUMAN	NOL7	HGNC	.	.	UPI000007196C	SNV	NOL7,missense_variant,p.Val160Ala,ENST00000451315,;AL441883.1,3_prime_UTR_variant,,ENST00000600057,;NOL7,3_prime_UTR_variant,,ENST00000420088,;RANBP9,downstream_gene_variant,,ENST00000011619,;RANBP9,downstream_gene_variant,,ENST00000539980,;SIRT5,downstream_gene_variant,,ENST00000606117,;RP1-223E5.4,upstream_gene_variant,,ENST00000566170,;NOL7,non_coding_transcript_exon_variant,,ENST00000474485,;RANBP9,downstream_gene_variant,,ENST00000469916,;	511	191	228	SUCCESS
TNXB	7148	.	GRCh37	6	32063403	32063403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1179436412	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	432	86	274	1	ENST00000375244.3:c.2227G>A	p.Glu743Lys	p.E743K	ENST00000375244		743	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	.	.	2227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCGCCAG	NONE	.	.	SMART_domains:SM00181,Gene3D:2gy5A03,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50026	.	.	ENSP00000364396	.	3/44	.	.	.	.	.	.	.	.	.	3/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.564)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.Glu743Lys,ENST00000375247,;TNXB,missense_variant,p.Glu743Lys,ENST00000479795,;TNXB,missense_variant,p.Glu743Lys,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000442721,;ATF6B,downstream_gene_variant,,ENST00000494022,;TNXB,non_coding_transcript_exon_variant,,ENST00000486148,;	2429	275	519	SUCCESS
CDYL	9425	.	GRCh37	6	4935914	4935914	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	156	159	1	ENST00000328908.5:c.1019G>C	p.Arg340Thr	p.R340T	ENST00000328908		340	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS4491.2	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGATACA	NONE	.	.	hmmpanther:PTHR11941:SF11,hmmpanther:PTHR11941,Gene3D:3.90.226.10	.	.	ENSP00000380718	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.07)	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,missense_variant,p.Arg154Thr,ENST00000449732,;CDYL,missense_variant,p.Arg66Thr,ENST00000440139,;CDYL,missense_variant,p.Arg286Thr,ENST00000397588,;CDYL,missense_variant,p.Arg154Thr,ENST00000343762,;CDYL,missense_variant,p.Arg340Thr,ENST00000328908,;CDYL,non_coding_transcript_exon_variant,,ENST00000472453,;CDYL,non_coding_transcript_exon_variant,,ENST00000469671,;	1206	160	237	SUCCESS
LRRN3	54674	.	GRCh37	7	110764538	110764538	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	56	0	ENST00000308478.5:c.1711del	p.Ile571TyrfsTer13	p.I571Yfs*13	ENST00000308478	NM_001099658.1	570	cgA/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS5754.1	1710	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTCGAATACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF7,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000397312	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000451085	Transcript	.	.	ENSG00000173114	17200	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRN3_HUMAN	LRRN3	HGNC	A4D0T1_HUMAN,E7EW58_HUMAN	.	UPI0000037517	deletion	LRRN3,frameshift_variant,p.Ile571TyrfsTer13,ENST00000422987,;LRRN3,frameshift_variant,p.Ile571TyrfsTer13,ENST00000308478,;LRRN3,frameshift_variant,p.Ile571TyrfsTer13,ENST00000451085,;IMMP2L,intron_variant,,ENST00000450877,;IMMP2L,intron_variant,,ENST00000437687,;IMMP2L,intron_variant,,ENST00000415362,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000405709,;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000331762,;LRRN3,downstream_gene_variant,,ENST00000421101,;IMMP2L,intron_variant,,ENST00000489381,;	2756	56	86	SUCCESS
WASL	8976	.	GRCh37	7	123334793	123334793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	81	0	ENST00000223023.4:c.802G>A	p.Val268Ile	p.V268I	ENST00000223023	NM_003941.3	268	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS34743.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAACAGCTT	NONE	.	.	Superfamily_domains:0037032,Gene3D:3.90.810.10,hmmpanther:PTHR12779:SF3,hmmpanther:PTHR12779	.	.	ENSP00000223023	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000223023	Transcript	.	.	ENSG00000106299	12735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.12)	.	WASL_HUMAN	WASL	HGNC	.	.	UPI000013C821	SNV	WASL,missense_variant,p.Val268Ile,ENST00000223023,;	1135	81	89	SUCCESS
MLXIPL	51085	.	GRCh37	7	73013995	73013995	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146487355	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	65	0	ENST00000313375.3:c.932C>T	p.Pro311Leu	p.P311L	ENST00000313375	NM_032953.2	311	cCg/cTg	0	A:0.0002	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS5553.1	932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGGCTGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741,Low_complexity_(Seg):seg	A:0	A:0.0023	ENSP00000320886	A:0.002	8/17	.	.	.	.	.	.	.	.	rs146487355,COSM3950769	8/17	common_in_exac	ENST00000313375	Transcript	.	A:0.0004	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.018)	A:0	tolerated(0.27)	0,1	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Pro311Leu,ENST00000313375,;MLXIPL,missense_variant,p.Pro218Leu,ENST00000434326,;MLXIPL,missense_variant,p.Pro218Leu,ENST00000395189,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000429400,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000354613,;MLXIPL,missense_variant,p.Pro144Leu,ENST00000453275,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000414749,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;MLXIPL,upstream_gene_variant,,ENST00000467221,;	980	65	74	SUCCESS
C7orf43	0	.	GRCh37	7	99754066	99754066	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	204	76	206	1	ENST00000316937.3:c.1183A>T	p.Asn395Tyr	p.N395Y	ENST00000316937	NM_018275.3	395	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5687.1	1183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATTGTTAA	NONE	.	.	hmmpanther:PTHR16096,hmmpanther:PTHR16096:SF7	.	.	ENSP00000324741	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000316937	Transcript	.	.	ENSG00000146826	25604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	CG043_HUMAN	C7orf43	HGNC	F8WFE0_HUMAN,C9JMZ9_HUMAN,B3KNS5_HUMAN	.	UPI000006ECC7	SNV	C7orf43,missense_variant,p.Asn301Tyr,ENST00000456769,;C7orf43,missense_variant,p.Asn163Tyr,ENST00000419841,;C7orf43,missense_variant,p.Asn126Tyr,ENST00000457641,;C7orf43,missense_variant,p.Asn395Tyr,ENST00000316937,;GAL3ST4,downstream_gene_variant,,ENST00000413800,;GAL3ST4,downstream_gene_variant,,ENST00000423751,;GAL3ST4,downstream_gene_variant,,ENST00000360039,;GAL3ST4,downstream_gene_variant,,ENST00000426974,;LAMTOR4,downstream_gene_variant,,ENST00000341942,;GAL3ST4,downstream_gene_variant,,ENST00000411994,;C7orf43,upstream_gene_variant,,ENST00000394035,;LAMTOR4,downstream_gene_variant,,ENST00000441173,;MIR4658,downstream_gene_variant,,ENST00000584344,;C7orf43,non_coding_transcript_exon_variant,,ENST00000498638,;LAMTOR4,downstream_gene_variant,,ENST00000474831,;LAMTOR4,downstream_gene_variant,,ENST00000460732,;C7orf43,downstream_gene_variant,,ENST00000472061,;LAMTOR4,downstream_gene_variant,,ENST00000468582,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;LAMTOR4,downstream_gene_variant,,ENST00000474141,;LAMTOR4,downstream_gene_variant,,ENST00000488241,;GAL3ST4,downstream_gene_variant,,ENST00000498000,;LAMTOR4,downstream_gene_variant,,ENST00000466498,;C7orf43,missense_variant,p.Asn129Tyr,ENST00000448720,;C7orf43,intron_variant,,ENST00000419037,;C7orf43,upstream_gene_variant,,ENST00000470260,;GAL3ST4,downstream_gene_variant,,ENST00000495882,;LAMTOR4,downstream_gene_variant,,ENST00000473459,;LAMTOR4,downstream_gene_variant,,ENST00000488338,;	1369	207	280	SUCCESS
SNTB1	6641	.	GRCh37	8	121824005	121824005	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	17	0	ENST00000395601.3:c.79G>T	p.Glu27Ter	p.E27*	ENST00000395601	NM_021021.3	27	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6334.1	79	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCCAGCA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11,SMART_domains:SM00233	.	.	ENSP00000378965	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000395601	Transcript	.	.	ENSG00000172164	11168	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNTB1_HUMAN	SNTB1	HGNC	E5RIX7_HUMAN	.	UPI0000135B20	SNV	SNTB1,stop_gained,p.Glu27Ter,ENST00000520717,;SNTB1,stop_gained,p.Glu27Ter,ENST00000395601,;SNTB1,stop_gained,p.Glu27Ter,ENST00000517992,;RP11-713M15.2,upstream_gene_variant,,ENST00000605955,;SNTB1,upstream_gene_variant,,ENST00000519177,;	494	17	43	SUCCESS
PTPLAD2	0	.	GRCh37	9	21008070	21008070	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	127	1	ENST00000495827.2:c.566C>T	p.Ser189Phe	p.S189F	ENST00000495827	NM_001010915.3	189	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS43791.1	566	RADIA|MUTECT|MUSE	.	AGATGGATAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF16,Pfam_domain:PF04387	.	.	ENSP00000419503	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000495827	Transcript	.	.	ENSG00000188921	20920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	HACD4_HUMAN	PTPLAD2	HGNC	.	.	UPI0000251F91	SNV	PTPLAD2,missense_variant,p.Ser189Phe,ENST00000495827,;PTPLAD2,missense_variant,p.Ser189Phe,ENST00000513293,;	612	128	73	SUCCESS
PTPLAD2	0	.	GRCh37	9	21008109	21008109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1177602541	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	125	0	ENST00000495827.2:c.527C>T	p.Ser176Leu	p.S176L	ENST00000495827	NM_001010915.3	176	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43791.1	527	RADIA|MUTECT|MUSE	.	CAAATGATTCA	NONE	.	.	hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF16,Pfam_domain:PF04387	.	.	ENSP00000419503	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000495827	Transcript	.	.	ENSG00000188921	20920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.059)	.	tolerated(0.07)	.	HACD4_HUMAN	PTPLAD2	HGNC	.	.	UPI0000251F91	SNV	PTPLAD2,missense_variant,p.Ser176Leu,ENST00000495827,;PTPLAD2,missense_variant,p.Ser176Leu,ENST00000513293,;	573	125	77	SUCCESS
FAM120A	23196	.	GRCh37	9	96233651	96233652	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	123	28	147	0	ENST00000277165.6:c.708dup	p.Ala237CysfsTer11	p.A237Cfs*11	ENST00000277165	NM_014612.3	235	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS6706.1	703-704	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTATTTTT	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14	.	.	ENSP00000277165	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000277165	Transcript	.	.	ENSG00000048828	13247	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F120A_HUMAN	FAM120A	HGNC	.	.	UPI0000211A83	insertion	FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000375389,;FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000340893,;FAM120A,frameshift_variant,p.Ala81CysfsTer11,ENST00000446420,;FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000333936,;FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000277165,;	897-898	147	151	SUCCESS
NXF3	56000	.	GRCh37	X	102334288	102334288	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs761308991	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	258	497	2	ENST00000395065.3:c.1334C>T	p.Thr445Met	p.T445M	ENST00000395065	NM_022052.1	445	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14503.1	1334	RADIA|SOMATICSNIPER|VARSCANS	.	TCACCGTCTGG	NONE	byFrequency	.	PROSITE_profiles:PS50177,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	15/20	.	.	.	.	.	.	.	.	rs761308991	15/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.705)	.	tolerated(0.08)	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Thr445Met,ENST00000395065,;NXF3,missense_variant,p.Thr322Met,ENST00000427570,;NXF3,missense_variant,p.Thr117Met,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,splice_region_variant,,ENST00000497850,;NXF3,splice_region_variant,,ENST00000468528,;NXF3,splice_region_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000460791,;	1436	499	416	SUCCESS
ZMYM3	9203	.	GRCh37	X	70464153	70464153	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs369984340	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	72	1	ENST00000314425.5:c.3279C>T		p.X1093_splice	ENST00000314425	NM_201599.2	1093	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS14409.1	3279	MUTECT|MUSE	.	TTACGGCCAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF32	.	.	ENSP00000343909	.	20/25	.	.	.	.	.	.	.	.	rs369984340	20/25	PASS	ENST00000353904	Transcript	.	.	ENSG00000147130	13054	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZMYM3_HUMAN	ZMYM3	HGNC	.	.	UPI000013C339	SNV	ZMYM3,synonymous_variant,p.%3D,ENST00000373988,;ZMYM3,synonymous_variant,p.%3D,ENST00000314425,;ZMYM3,synonymous_variant,p.%3D,ENST00000373998,;ZMYM3,synonymous_variant,p.%3D,ENST00000353904,;ZMYM3,intron_variant,,ENST00000373984,;ZMYM3,downstream_gene_variant,,ENST00000373982,;ZMYM3,downstream_gene_variant,,ENST00000373978,;ZMYM3,downstream_gene_variant,,ENST00000373981,;ZMYM3,splice_region_variant,,ENST00000470832,;ZMYM3,intron_variant,,ENST00000489332,;	3467	73	73	SUCCESS
CDNF	441549	.	GRCh37	10	14862095	14862095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	35	120	0	ENST00000465530.1:c.448A>G	p.Ile150Val	p.I150V	ENST00000465530	NM_001029954.2	150	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31148.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATCTGCT	NONE	.	.	Superfamily_domains:SSF68906,Pfam_domain:PF10208,hmmpanther:PTHR12990:SF8,hmmpanther:PTHR12990	.	.	ENSP00000419395	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000465530	Transcript	.	.	ENSG00000185267	24913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.05)	.	CDNF_HUMAN	CDNF	HGNC	.	.	UPI0000051CF6	SNV	CDNF,missense_variant,p.Ile48Val,ENST00000378442,;CDNF,missense_variant,p.Ile150Val,ENST00000465530,;CDNF,non_coding_transcript_exon_variant,,ENST00000467405,;CDNF,non_coding_transcript_exon_variant,,ENST00000466269,;CDNF,non_coding_transcript_exon_variant,,ENST00000378441,;	574	120	140	SUCCESS
DCLRE1C	64421	.	GRCh37	10	14951131	14951131	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1404800146	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	111	0	ENST00000378278.2:c.1355G>T	p.Cys452Phe	p.C452F	ENST00000378278		452	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31149.1	1355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACAATCT	NONE	.	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF8	.	.	ENSP00000367527	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000378278	Transcript	1	.	ENSG00000152457	17642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	DCR1C_HUMAN	DCLRE1C	HGNC	B3KSJ7_HUMAN	.	UPI000013EEDC	SNV	DCLRE1C,missense_variant,p.Cys332Phe,ENST00000396817,;DCLRE1C,missense_variant,p.Cys452Phe,ENST00000378278,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000378258,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000378254,;DCLRE1C,missense_variant,p.Cys105Phe,ENST00000378242,;DCLRE1C,missense_variant,p.Cys337Phe,ENST00000378246,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000378255,;DCLRE1C,missense_variant,p.Cys337Phe,ENST00000378249,;DCLRE1C,missense_variant,p.Cys337Phe,ENST00000357717,;DCLRE1C,missense_variant,p.Cys332Phe,ENST00000453695,;DCLRE1C,intron_variant,,ENST00000378289,;SUV39H2,downstream_gene_variant,,ENST00000313519,;DCLRE1C,non_coding_transcript_exon_variant,,ENST00000492201,;DCLRE1C,downstream_gene_variant,,ENST00000489845,;SUV39H2,downstream_gene_variant,,ENST00000378331,;	1393	111	94	SUCCESS
AKR1E2	83592	.	GRCh37	10	4888063	4888063	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	99	0	ENST00000298375.7:c.838-1277T>A		p.*280*	ENST00000298375	NM_001040177.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31134.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGATGGCTG	NONE	.	.	.	.	.	ENSP00000298375	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,intron_variant,,ENST00000487985,;AKR1E2,intron_variant,,ENST00000345253,;AKR1E2,intron_variant,,ENST00000334019,;AKR1E2,intron_variant,,ENST00000532248,;AKR1E2,intron_variant,,ENST00000298375,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000525281,;AKR1E2,downstream_gene_variant,,ENST00000441590,;AKR1E2,intron_variant,,ENST00000463345,;AKR1E2,intron_variant,,ENST00000474119,;AKR1E2,downstream_gene_variant,,ENST00000525572,;	.	99	87	SUCCESS
SFTPA2	729238	.	GRCh37	10	81319071	81319071	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	730	384	1025	1	ENST00000372325.2:c.169C>A	p.Pro57Thr	p.P57T	ENST00000372325	NM_001098668.2	57	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41540.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGAGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24024:SF13,hmmpanther:PTHR24024,Pfam_domain:PF01391	.	.	ENSP00000361400	.	3/6	.	.	.	.	.	.	.	.	COSM3978817	3/6	nonpreferredpair	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,missense_variant,p.Pro57Thr,ENST00000372325,;SFTPA2,missense_variant,p.Pro57Thr,ENST00000492049,;SFTPA2,missense_variant,p.Pro57Thr,ENST00000372327,;SFTPA2,missense_variant,p.Pro57Thr,ENST00000417041,;	254	1026	1115	SUCCESS
TMPRSS13	84000	.	GRCh37	11	117789359	117789359	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	89	0	ENST00000524993.1:c.216C>T	p.Gly72=	p.G72=	ENST00000524993	NM_001077263.2	72	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41721.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGCCTGG	BUFFER|p.S70P|c.208T>C|5,BUFFER|p.S70P|c.208T>C|6,BUFFER|p.S70P|c.208T>C|4	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037935	.	.	ENSP00000434279	.	2/13	.	.	.	.	.	.	.	.	.	2/13	nonpreferredpair	ENST00000524993	Transcript	.	.	ENSG00000137747	29808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TMPRSS13	HGNC	Q1RMF8_HUMAN,E9PRA0_HUMAN	.	UPI0000E5923F	SNV	TMPRSS13,synonymous_variant,p.%3D,ENST00000526090,;TMPRSS13,synonymous_variant,p.%3D,ENST00000524993,;TMPRSS13,synonymous_variant,p.%3D,ENST00000430170,;TMPRSS13,synonymous_variant,p.%3D,ENST00000528626,;TMPRSS13,synonymous_variant,p.%3D,ENST00000445164,;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	274	89	38	SUCCESS
DKK3	27122	.	GRCh37	11	11987381	11987381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	75	0	ENST00000326932.4:c.805A>T	p.Ser269Cys	p.S269C	ENST00000326932	NM_013253.4	269	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS7808.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGGCAC	NONE	.	.	hmmpanther:PTHR12113,Gene3D:2.10.80.10	.	.	ENSP00000379762	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000396505	Transcript	.	.	ENSG00000050165	2893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0.01)	.	DKK3_HUMAN	DKK3	HGNC	E9PKW6_HUMAN	.	UPI00001694CA	SNV	DKK3,missense_variant,p.Ser269Cys,ENST00000396505,;DKK3,missense_variant,p.Ser241Cys,ENST00000450094,;DKK3,missense_variant,p.Ser269Cys,ENST00000525493,;DKK3,missense_variant,p.Ser269Cys,ENST00000326932,;DKK3,downstream_gene_variant,,ENST00000534511,;DKK3,downstream_gene_variant,,ENST00000529338,;DKK3,downstream_gene_variant,,ENST00000533813,;DKK3,non_coding_transcript_exon_variant,,ENST00000528188,;DKK3,intron_variant,,ENST00000527132,;DKK3,downstream_gene_variant,,ENST00000532873,;DKK3,downstream_gene_variant,,ENST00000525927,;DKK3,downstream_gene_variant,,ENST00000532372,;	1044	75	55	SUCCESS
C11orf63	0	.	GRCh37	11	122774639	122774639	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	99	0	ENST00000227349.2:c.351A>G	p.Gln117=	p.Q117=	ENST00000227349	NM_024806.3	117	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS8438.1	351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAACCAAT	NONE	.	.	hmmpanther:PTHR14726	.	.	ENSP00000227349	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000227349	Transcript	.	.	ENSG00000109944	26288	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK063_HUMAN	C11orf63	HGNC	.	.	UPI00001FA5AB	SNV	C11orf63,synonymous_variant,p.%3D,ENST00000531316,;C11orf63,synonymous_variant,p.%3D,ENST00000227349,;C11orf63,synonymous_variant,p.%3D,ENST00000307257,;	648	99	60	SUCCESS
MUC5B	727897	.	GRCh37	11	1267292	1267292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	266	112	543	0	ENST00000529681.1:c.9182C>A	p.Ser3061Tyr	p.S3061Y	ENST00000529681	NM_002458.2	3061	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44515.2	9182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	nonpreferredpair	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ser3061Tyr,ENST00000529681,;MUC5B,missense_variant,p.Ser3064Tyr,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	9240	543	378	SUCCESS
HIPK3	10114	.	GRCh37	11	33308240	33308240	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	147	0	ENST00000303296.4:c.280G>A	p.Val94Ile	p.V94I	ENST00000303296	NM_005734.4	94	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS7884.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGTCATA	NONE	.	.	hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058	.	.	ENSP00000304226	.	2/17	.	.	.	.	.	.	.	.	.	2/17	nonpreferredpair	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.22)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Val94Ile,ENST00000525975,;HIPK3,missense_variant,p.Val94Ile,ENST00000456517,;HIPK3,missense_variant,p.Val94Ile,ENST00000379016,;HIPK3,missense_variant,p.Val94Ile,ENST00000303296,;HIPK3,downstream_gene_variant,,ENST00000531504,;	585	147	96	SUCCESS
UBQLN3	50613	.	GRCh37	11	5529136	5529136	+	synonymous_variant	Silent	SNP	C	C	A	rs754916229	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	135	0	ENST00000311659.4:c.1653G>T	p.Gly551=	p.G551=	ENST00000311659	NM_017481.2	551	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7758.1	1653	RADIA|MUTECT|MUSE	.	CCCGTCCCTGC	NONE	byFrequency	.	hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4	.	.	ENSP00000347997	.	2/2	.	.	.	.	.	.	.	.	rs754916229	2/2	nonpreferredpair	ENST00000311659	Transcript	.	.	ENSG00000175520	12510	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBQL3_HUMAN	UBQLN3	HGNC	C9IYQ4_HUMAN	.	UPI000006E3A0	SNV	UBQLN3,synonymous_variant,p.%3D,ENST00000311659,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000396895,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	1801	135	89	SUCCESS
DNHD1	144132	.	GRCh37	11	6567458	6567458	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	107	0	ENST00000254579.6:c.5289T>C	p.Tyr1763=	p.Y1763=	ENST00000254579	NM_144666.2	1763	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS44532.1	5289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTATGCCCC	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF12774	.	.	ENSP00000254579	.	21/43	.	.	.	.	.	.	.	.	.	21/43	nonpreferredpair	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,synonymous_variant,p.%3D,ENST00000527990,;DNHD1,synonymous_variant,p.%3D,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533649,;DNHD1,intron_variant,,ENST00000534210,;	5853	108	105	SUCCESS
TPCN2	219931	.	GRCh37	11	68854594	68854594	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	73	0	ENST00000294309.3:c.2100G>A	p.Lys700=	p.K700=	ENST00000294309	NM_139075.3	700	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS8189.1	2100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGTGGGA	NONE	.	.	Superfamily_domains:SSF81324,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF175	.	.	ENSP00000294309	.	24/25	.	.	.	.	.	.	.	.	.	24/25	nonpreferredpair	ENST00000294309	Transcript	.	.	ENSG00000162341	20820	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPC2_HUMAN	TPCN2	HGNC	.	.	UPI000013E149	SNV	TPCN2,synonymous_variant,p.%3D,ENST00000542467,;TPCN2,synonymous_variant,p.%3D,ENST00000294309,;MIR3164,downstream_gene_variant,,ENST00000581178,;TPCN2,non_coding_transcript_exon_variant,,ENST00000442692,;	2201	73	62	SUCCESS
SRRM4	84530	.	GRCh37	12	119419578	119419578	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	23	0	ENST00000267260.4:c.-110C>A		p.*37*	ENST00000267260	NM_194286.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44994.1	.	RADIA|MUTECT|MUSE	.	CCCCTCTCTGG	NONE	.	.	.	.	.	ENSP00000267260	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,5_prime_UTR_variant,,ENST00000267260,;	279	23	12	SUCCESS
UNC119B	84747	.	GRCh37	12	121151187	121151187	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	45	173	0	ENST00000344651.4:c.355T>G	p.Ser119Ala	p.S119A	ENST00000344651	NM_001080533.2	119	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS31914.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTTTCAGGT	NONE	.	.	hmmpanther:PTHR12951:SF3,hmmpanther:PTHR12951,Pfam_domain:PF05351,Gene3D:1kshB00,Superfamily_domains:SSF81296	.	.	ENSP00000344942	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000344651	Transcript	.	.	ENSG00000175970	16488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	U119B_HUMAN	UNC119B	HGNC	.	.	UPI00001FBCE1	SNV	UNC119B,missense_variant,p.Ser119Ala,ENST00000344651,;UNC119B,non_coding_transcript_exon_variant,,ENST00000539658,;	395	173	136	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1953666	1953666	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	71	243	0	ENST00000382722.5:c.2372G>A	p.Ser791Asn	p.S791N	ENST00000382722	NM_172364.4	791	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS44785.1	2372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGCTGGCC	NONE	.	.	hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166	.	.	ENSP00000372169	.	25/38	.	.	.	.	.	.	.	.	.	25/38	nonpreferredpair	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.89)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Ser652Asn,ENST00000585732,;CACNA2D4,missense_variant,p.Ser766Asn,ENST00000587995,;CACNA2D4,missense_variant,p.Ser791Asn,ENST00000586184,;CACNA2D4,missense_variant,p.Ser791Asn,ENST00000382722,;CACNA2D4,missense_variant,p.Ser727Asn,ENST00000588077,;CACNA2D4,missense_variant,p.Ser727Asn,ENST00000585708,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000539048,;CACNA2D4,missense_variant,p.Ser72Asn,ENST00000537784,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	2735	243	194	SUCCESS
RASSF8	11228	.	GRCh37	12	26217450	26217450	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	149	0	ENST00000282884.9:c.123C>A	p.Thr41=	p.T41=	ENST00000282884	NM_001164746.1	41	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS53765.1	123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACCCTTAT	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR15286:SF9,hmmpanther:PTHR15286,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000384491	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000405154	Transcript	.	.	ENSG00000123094	13232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF8_HUMAN	RASSF8	HGNC	H0YG85_HUMAN,F5H8C5_HUMAN,F5H8B9_HUMAN,F5H7J1_HUMAN,F5H343_HUMAN,F5H0S5_HUMAN,F5GYP8_HUMAN	.	UPI00001FB7C1	SNV	RASSF8,synonymous_variant,p.%3D,ENST00000542315,;RASSF8,synonymous_variant,p.%3D,ENST00000542004,;RASSF8,synonymous_variant,p.%3D,ENST00000541218,;RASSF8,synonymous_variant,p.%3D,ENST00000545413,;RASSF8,synonymous_variant,p.%3D,ENST00000282884,;RASSF8,synonymous_variant,p.%3D,ENST00000381352,;RASSF8,synonymous_variant,p.%3D,ENST00000542865,;RASSF8,synonymous_variant,p.%3D,ENST00000535907,;RASSF8,synonymous_variant,p.%3D,ENST00000405154,;RASSF8,synonymous_variant,p.%3D,ENST00000541490,;RASSF8,upstream_gene_variant,,ENST00000539545,;	322	149	96	SUCCESS
MRPS35	60488	.	GRCh37	12	27908279	27908279	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	103	0	ENST00000081029.3:c.868G>A	p.Glu290Lys	p.E290K	ENST00000081029	NM_021821.3	290	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8714.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGAAGAG	NONE	.	.	hmmpanther:PTHR13490	.	.	ENSP00000081029	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000081029	Transcript	.	.	ENSG00000061794	16635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.4)	.	RT35_HUMAN	MRPS35	HGNC	.	.	UPI000003B0E7	SNV	MRPS35,missense_variant,p.Glu290Lys,ENST00000081029,;MRPS35,3_prime_UTR_variant,,ENST00000538315,;MRPS35,3_prime_UTR_variant,,ENST00000542791,;Y_RNA,downstream_gene_variant,,ENST00000516776,;	939	103	66	SUCCESS
DDX11	1663	.	GRCh37	12	31249813	31249813	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1427634316	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	63	261	0	ENST00000545668.1:c.1651G>A	p.Glu551Lys	p.E551K	ENST00000545668	NM_001257144.1	551	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44856.1	1651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGAGAGT	NONE	.	.	hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,TIGRFAM_domain:TIGR00604	.	.	ENSP00000384703	.	17/27	.	.	.	.	.	.	.	.	.	17/27	nonpreferredpair	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.374)	.	tolerated(0.17)	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	SNV	DDX11,missense_variant,p.Glu551Lys,ENST00000350437,;DDX11,missense_variant,p.Glu551Lys,ENST00000542838,;DDX11,missense_variant,p.Glu551Lys,ENST00000545668,;DDX11,missense_variant,p.Glu525Lys,ENST00000228264,;DDX11,missense_variant,p.Glu551Lys,ENST00000407793,;DDX11,3_prime_UTR_variant,,ENST00000251758,;DDX11,non_coding_transcript_exon_variant,,ENST00000539673,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,3_prime_UTR_variant,,ENST00000539049,;DDX11,non_coding_transcript_exon_variant,,ENST00000536580,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,non_coding_transcript_exon_variant,,ENST00000539699,;DDX11,intron_variant,,ENST00000538345,;DDX11,upstream_gene_variant,,ENST00000542661,;DDX11,upstream_gene_variant,,ENST00000542777,;DDX11,downstream_gene_variant,,ENST00000542129,;DDX11,downstream_gene_variant,,ENST00000543511,;DDX11,downstream_gene_variant,,ENST00000543026,;DDX11,upstream_gene_variant,,ENST00000538740,;	1902	261	173	SUCCESS
USP5	8078	.	GRCh37	12	6968631	6968631	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	174	0	ENST00000229268.8:c.1059-3T>A		p.X353_splice	ENST00000229268	NM_001098536.1	353		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41743.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTTAGGTA	NONE	.	.	.	.	.	ENSP00000229268	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	LOW	8/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,splice_region_variant,,ENST00000229268,;USP5,splice_region_variant,,ENST00000389231,;USP5,intron_variant,,ENST00000542087,;USP5,upstream_gene_variant,,ENST00000541969,;USP5,splice_region_variant,,ENST00000537267,;USP5,upstream_gene_variant,,ENST00000542371,;USP5,downstream_gene_variant,,ENST00000535080,;	.	174	135	SUCCESS
C1RL	51279	.	GRCh37	12	7249174	7249174	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771340998	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	64	252	0	ENST00000266542.4:c.1277C>T	p.Thr426Met	p.T426M	ENST00000266542	NM_016546.2	426	aCg/aTg	0	.	A:0.0008	.	A:0	.	A	T/M	protein_coding	YES	CCDS8573.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCGTCTCA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF26,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	A:0	.	ENSP00000266542	A:0	6/6	.	.	.	.	.	.	.	.	rs771340998,COSM1198522	6/6	nonpreferredpair	ENST00000266542	Transcript	.	.	ENSG00000139178	21265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.124)	A:0	tolerated(0.44)	0,1	C1RL_HUMAN	C1RL	HGNC	.	.	UPI0000EE67FA	SNV	C1RL,missense_variant,p.Thr426Met,ENST00000266542,;C1RL,3_prime_UTR_variant,,ENST00000544702,;C1RL,intron_variant,,ENST00000545280,;C1RL,downstream_gene_variant,,ENST00000534950,;C1RL,downstream_gene_variant,,ENST00000543933,;C1R,upstream_gene_variant,,ENST00000540242,;C1R,upstream_gene_variant,,ENST00000540610,;C1R,upstream_gene_variant,,ENST00000536053,;C1R,upstream_gene_variant,,ENST00000538050,;C1R,upstream_gene_variant,,ENST00000542285,;C1R,upstream_gene_variant,,ENST00000542220,;C1R,upstream_gene_variant,,ENST00000543835,;C1R,upstream_gene_variant,,ENST00000541042,;C1R,upstream_gene_variant,,ENST00000535233,;C1RL,intron_variant,,ENST00000504702,;C1RL,intron_variant,,ENST00000539803,;C1R,upstream_gene_variant,,ENST00000536092,;C1RL,downstream_gene_variant,,ENST00000537833,;C1R,upstream_gene_variant,,ENST00000545466,;C1R,upstream_gene_variant,,ENST00000540394,;C1RL,downstream_gene_variant,,ENST00000534969,;C1R,upstream_gene_variant,,ENST00000543362,;	1370	252	190	SUCCESS
NAV3	89795	.	GRCh37	12	78225216	78225216	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	81	0	ENST00000397909.2:c.-26A>G		p.*9*	ENST00000397909	NM_001024383.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41815.1	.	RADIA|MUTECT|MUSE	.	TTGGCAGCAAG	NONE	.	.	.	.	.	ENSP00000446132	.	1/39	.	.	.	.	.	.	.	.	.	1/39	nonpreferredpair	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,5_prime_UTR_variant,,ENST00000536525,;NAV3,5_prime_UTR_variant,,ENST00000397909,;NAV3,5_prime_UTR_variant,,ENST00000266692,;NAV3,5_prime_UTR_variant,,ENST00000228327,;NAV3,5_prime_UTR_variant,,ENST00000549464,;	148	81	58	SUCCESS
CEP290	80184	.	GRCh37	12	88479875	88479875	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	29	0	ENST00000552810.1:c.4378A>C	p.Ile1460Leu	p.I1460L	ENST00000552810	NM_025114.3	1460	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS55858.1	4378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAATTTTCC	NONE	.	.	hmmpanther:PTHR18879	.	.	ENSP00000448012	.	34/54	.	.	.	.	.	.	.	.	.	34/54	nonpreferredpair	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Ile1460Leu,ENST00000552810,;CEP290,missense_variant,p.Ile520Leu,ENST00000397838,;CEP290,missense_variant,p.Ile1462Leu,ENST00000309041,;CEP290,missense_variant,p.Ile520Leu,ENST00000547691,;	4722	29	43	SUCCESS
UBE2N	7334	.	GRCh37	12	93835657	93835657	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	47	162	0	ENST00000318066.2:c.4G>A	p.Ala2Thr	p.A2T	ENST00000318066	NM_003348.3	2	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31875.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCATCT	NONE	.	.	hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79	.	.	ENSP00000316176	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000318066	Transcript	.	.	ENSG00000177889	12492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.1)	.	UBE2N_HUMAN	UBE2N	HGNC	F8VQQ8_HUMAN	.	UPI0000003EA3	SNV	UBE2N,missense_variant,p.Ala2Thr,ENST00000550657,;UBE2N,missense_variant,p.Ala2Thr,ENST00000552442,;UBE2N,missense_variant,p.Ala2Thr,ENST00000318066,;UBE2N,upstream_gene_variant,,ENST00000549833,;UBE2N,missense_variant,p.Ala2Thr,ENST00000549490,;	382	162	115	SUCCESS
FLT3	2322	.	GRCh37	13	28626760	28626760	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765227645	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	189	0	ENST00000241453.7:c.536A>G	p.Gln179Arg	p.Q179R	ENST00000241453	NM_004119.2	179	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS31953.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTGGTTT	NONE	.	.	PIRSF_domain:PIRSF000615	.	.	ENSP00000241453	.	5/24	.	.	.	.	.	.	.	.	rs765227645	5/24	nonpreferredpair	ENST00000241453	Transcript	.	.	ENSG00000122025	3765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.49)	.	FLT3_HUMAN	FLT3	HGNC	.	.	UPI00001FC90B	SNV	FLT3,missense_variant,p.Gln179Arg,ENST00000241453,;FLT3,missense_variant,p.Gln179Arg,ENST00000537084,;FLT3,missense_variant,p.Gln179Arg,ENST00000380982,;FLT3,missense_variant,p.Gln179Arg,ENST00000380987,;	618	189	65	SUCCESS
FRY	10129	.	GRCh37	13	32850640	32850640	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	177	0	ENST00000542859.1:c.436G>A	p.Val146Met	p.V146M	ENST00000542859		146	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS41875.1	8326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGTGTTA	NONE	.	.	hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	.	.	ENSP00000369600	.	57/61	.	.	.	.	.	.	.	.	.	57/61	nonpreferredpair	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.17)	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,missense_variant,p.Val146Met,ENST00000542859,;FRY,missense_variant,p.Val2776Met,ENST00000380250,;FRY,3_prime_UTR_variant,,ENST00000477712,;FRY,non_coding_transcript_exon_variant,,ENST00000602645,;	8822	177	74	SUCCESS
OR4Q3	441669	.	GRCh37	14	20215682	20215683	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs780274969	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	61	0	ENST00000331723.1:c.103dup	p.Tyr35LeufsTer37	p.Y35Lfs*37	ENST00000331723	NM_172194.1	32	-/T	0	T:0.0002	.	.	.	.	T	-/X	protein_coding	YES	CCDS32020.1	96-97	INDELOCATOR|VARSCANI	.	TTTTTGTTTTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0.0001	ENSP00000330049	.	1/1	.	.	.	.	.	.	.	.	rs780274969	1/1	nonpreferredpair	ENST00000331723	Transcript	.	.	ENSG00000182652	15426	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR4Q3_HUMAN	OR4Q3	HGNC	.	.	UPI0000061EF0	insertion	OR4Q3,frameshift_variant,p.Tyr35LeufsTer37,ENST00000331723,;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	96-97	61	65	SUCCESS
THBS1	7057	.	GRCh37	15	39886581	39886581	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	170	0	ENST00000260356.5:c.3445G>A	p.Gly1149Arg	p.G1149R	ENST00000260356	NM_003246.2	1149	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS32194.1	3445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAGGGTTG	NONE	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	21/22	.	.	.	.	.	.	.	.	.	21/22	nonpreferredpair	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,missense_variant,p.Gly1149Arg,ENST00000260356,;CTD-2033D15.1,upstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000484734,;THBS1,non_coding_transcript_exon_variant,,ENST00000559746,;THBS1,downstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000490247,;	3610	170	84	SUCCESS
ZNF469	84627	.	GRCh37	16	88498779	88498779	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	20	0	ENST00000437464.1:c.4817C>T	p.Thr1606Ile	p.T1606I	ENST00000437464	NM_001127464.1	1606	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS45544.1	4817	RADIA|MUTECT|MUSE	.	ATCCACTGCAC	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Thr1634Ile,ENST00000565624,;ZNF469,missense_variant,p.Thr1606Ile,ENST00000437464,;	4817	20	10	SUCCESS
TMIGD1	388364	.	GRCh37	17	28656378	28656378	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	43	218	0	ENST00000328886.4:c.252C>T	p.Ser84=	p.S84=	ENST00000328886	NM_206832.1	84	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32605.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGGAATT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332404	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000328886	Transcript	.	.	ENSG00000182271	32431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMIG1_HUMAN	TMIGD1	HGNC	.	.	UPI00001D6918	SNV	TMIGD1,synonymous_variant,p.%3D,ENST00000328886,;TMIGD1,synonymous_variant,p.%3D,ENST00000538566,;	325	218	157	SUCCESS
KRT38	8687	.	GRCh37	17	39596873	39596873	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765108616	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	66	219	0	ENST00000246646.3:c.301A>G	p.Asn101Asp	p.N101D	ENST00000246646	NM_006771.3	101	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11392.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATTCAGGG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	.	.	ENSP00000246646	.	1/7	.	.	.	.	.	.	.	.	rs765108616	1/7	nonpreferredpair	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	deleterious(0.02)	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,missense_variant,p.Asn101Asp,ENST00000246646,;	301	219	146	SUCCESS
TANC2	26115	.	GRCh37	17	61315195	61315196	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	47	0	ENST00000424789.2:c.572dup	p.Asn191LysfsTer13	p.N191Kfs*13	ENST00000424789	NM_025185.3	190	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS45754.1	568-569	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCTGAAAAT	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	6/25	.	.	.	.	.	.	.	.	.	6/25	nonpreferredpair	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	insertion	TANC2,frameshift_variant,p.Asn191LysfsTer13,ENST00000389520,;TANC2,frameshift_variant,p.Asn191LysfsTer13,ENST00000424789,;TANC2,frameshift_variant,p.Asn120LysfsTer13,ENST00000583356,;AC037445.1,intron_variant,,ENST00000581421,;	572-573	47	51	SUCCESS
AKAP8	10270	.	GRCh37	19	15484748	15484748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	56	0	ENST00000269701.2:c.220G>T	p.Ala74Ser	p.A74S	ENST00000269701	NM_005858.3	74	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12329.1	220	MUTECT|MUSE	.	CATGGCAGGGG	NONE	.	.	hmmpanther:PTHR12190:SF5,hmmpanther:PTHR12190,Superfamily_domains:SSF56935	.	.	ENSP00000269701	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000269701	Transcript	.	.	ENSG00000105127	378	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.39)	.	AKAP8_HUMAN	AKAP8	HGNC	Q9UG73_HUMAN	.	UPI000012575C	SNV	AKAP8,missense_variant,p.Ala74Ser,ENST00000269701,;AKAP8,non_coding_transcript_exon_variant,,ENST00000595416,;AKAP8,intron_variant,,ENST00000599883,;AKAP8,intron_variant,,ENST00000537303,;AKAP8,upstream_gene_variant,,ENST00000598597,;	281	56	31	SUCCESS
ANO8	57719	.	GRCh37	19	17443815	17443815	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	120	0	ENST00000159087.4:c.510C>T	p.Arg170=	p.R170=	ENST00000159087	NM_020959.2	170	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32949.1	510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAGCGGAT	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF26	.	.	ENSP00000159087	.	5/18	.	.	.	.	.	.	.	.	.	5/18	nonpreferredpair	ENST00000159087	Transcript	.	.	ENSG00000074855	29329	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO8_HUMAN	ANO8	HGNC	.	.	UPI00001C200F	SNV	ANO8,synonymous_variant,p.%3D,ENST00000159087,;GTPBP3,upstream_gene_variant,,ENST00000361619,;GTPBP3,upstream_gene_variant,,ENST00000324894,;GTPBP3,upstream_gene_variant,,ENST00000358792,;GTPBP3,upstream_gene_variant,,ENST00000600625,;GTPBP3,upstream_gene_variant,,ENST00000596218,;GTPBP3,upstream_gene_variant,,ENST00000598038,;GTPBP3,upstream_gene_variant,,ENST00000595951,;GTPBP3,upstream_gene_variant,,ENST00000595381,;GTPBP3,upstream_gene_variant,,ENST00000600995,;GTPBP3,upstream_gene_variant,,ENST00000596941,;GTPBP3,upstream_gene_variant,,ENST00000598532,;GTPBP3,upstream_gene_variant,,ENST00000593297,;GTPBP3,upstream_gene_variant,,ENST00000596166,;GTPBP3,upstream_gene_variant,,ENST00000594345,;ANO8,synonymous_variant,p.%3D,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000602165,;GTPBP3,upstream_gene_variant,,ENST00000600610,;GTPBP3,upstream_gene_variant,,ENST00000599329,;GTPBP3,upstream_gene_variant,,ENST00000596001,;GTPBP3,upstream_gene_variant,,ENST00000598493,;GTPBP3,upstream_gene_variant,,ENST00000601261,;ANO8,downstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000601213,;GTPBP3,upstream_gene_variant,,ENST00000599429,;GTPBP3,upstream_gene_variant,,ENST00000594018,;	669	120	80	SUCCESS
AKT2	208	.	GRCh37	19	40742001	40742001	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	134	0	ENST00000392038.2:c.971A>G	p.Asp324Gly	p.D324G	ENST00000392038	NM_001626.4	324	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12552.1	971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTCCTCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF28,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000375892	.	11/14	.	.	.	.	.	.	.	.	COSM474741	11/14	nonpreferredpair	ENST00000392038	Transcript	1	.	ENSG00000105221	392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	tolerated(0.07)	1	AKT2_HUMAN	AKT2	HGNC	Q05BV0_HUMAN,M0QZK3_HUMAN,J3QQM6_HUMAN,J3QLS6_HUMAN,J3QL45_HUMAN,J3KSY8_HUMAN,J3KRI8_HUMAN,E7EVP8_HUMAN,C9JIJ1_HUMAN,C9JIF6_HUMAN,C9JHS6_HUMAN,C9JC83_HUMAN,C9J258_HUMAN,B4DG79_HUMAN,B3KP61_HUMAN,A8MX96_HUMAN	.	UPI0000049EDB	SNV	AKT2,missense_variant,p.Asp262Gly,ENST00000579047,;AKT2,missense_variant,p.Asp324Gly,ENST00000392038,;AKT2,missense_variant,p.Asp180Gly,ENST00000578615,;AKT2,missense_variant,p.Asp324Gly,ENST00000424901,;AKT2,missense_variant,p.Asp281Gly,ENST00000311278,;AKT2,upstream_gene_variant,,ENST00000476247,;AKT2,upstream_gene_variant,,ENST00000497948,;AKT2,downstream_gene_variant,,ENST00000578310,;AKT2,non_coding_transcript_exon_variant,,ENST00000486647,;AKT2,non_coding_transcript_exon_variant,,ENST00000480878,;AKT2,non_coding_transcript_exon_variant,,ENST00000391845,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,non_coding_transcript_exon_variant,,ENST00000483166,;AKT2,non_coding_transcript_exon_variant,,ENST00000579345,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000580878,;AKT2,non_coding_transcript_exon_variant,,ENST00000496089,;AKT2,non_coding_transcript_exon_variant,,ENST00000578282,;AKT2,downstream_gene_variant,,ENST00000578975,;AKT2,downstream_gene_variant,,ENST00000537834,;AKT2,downstream_gene_variant,,ENST00000601166,;AKT2,upstream_gene_variant,,ENST00000489375,;AKT2,downstream_gene_variant,,ENST00000492463,;AKT2,downstream_gene_variant,,ENST00000491778,;	1270	134	79	SUCCESS
MEGF8	1954	.	GRCh37	19	42837807	42837807	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	155	0	ENST00000251268.6:c.238G>T	p.Glu80Ter	p.E80*	ENST00000251268		80	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12604.2	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGAGTGC	NONE	.	.	PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000334219	.	2/41	.	.	.	.	.	.	.	.	COSM3797145,COSM3797144	2/41	nonpreferredpair	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,stop_gained,p.Glu80Ter,ENST00000334370,;MEGF8,stop_gained,p.Glu80Ter,ENST00000251268,;	873	155	103	SUCCESS
EPS8L1	54869	.	GRCh37	19	55598913	55598913	+	synonymous_variant	Silent	SNP	A	A	T	rs764119717	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	58	258	0	ENST00000201647.6:c.2103A>T	p.Ser701=	p.S701=	ENST00000201647	NM_133180.2	701	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12914.1	2103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCAGAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19	.	.	ENSP00000201647	.	20/20	.	.	.	.	.	.	.	.	rs764119717	20/20	nonpreferredpair	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,synonymous_variant,p.%3D,ENST00000586329,;EPS8L1,synonymous_variant,p.%3D,ENST00000588359,;EPS8L1,synonymous_variant,p.%3D,ENST00000245618,;EPS8L1,synonymous_variant,p.%3D,ENST00000201647,;EPS8L1,synonymous_variant,p.%3D,ENST00000540810,;PPP1R12C,downstream_gene_variant,,ENST00000435544,;PPP1R12C,downstream_gene_variant,,ENST00000263433,;PPP1R12C,downstream_gene_variant,,ENST00000591938,;PPP1R12C,downstream_gene_variant,,ENST00000592993,;PPP1R12C,downstream_gene_variant,,ENST00000376393,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587901,;EPS8L1,downstream_gene_variant,,ENST00000592824,;EPS8L1,downstream_gene_variant,,ENST00000585347,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587715,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,downstream_gene_variant,,ENST00000587786,;PPP1R12C,downstream_gene_variant,,ENST00000590268,;EPS8L1,downstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592284,;	2159	258	192	SUCCESS
C3	718	.	GRCh37	19	6693481	6693481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	56	0	ENST00000245907.6:c.3172G>T	p.Ala1058Ser	p.A1058S	ENST00000245907	NM_000064.2	1058	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32883.1	3172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCCAGCT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000245907	.	25/41	.	.	.	.	.	.	.	.	.	25/41	nonpreferredpair	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	tolerated(0.07)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Ala1058Ser,ENST00000245907,;C3,upstream_gene_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,;	3265	56	29	SUCCESS
VAV3	10451	.	GRCh37	1	108116734	108116734	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753925092	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	60	269	0	ENST00000370056.4:c.2437G>T	p.Asp813Tyr	p.D813Y	ENST00000370056	NM_006113.4	813	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS785.1	2437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCTCCTT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000359073	.	26/27	.	.	.	.	.	.	.	.	rs753925092	26/27	nonpreferredpair	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Asp813Tyr,ENST00000370056,;VAV3,missense_variant,p.Asp253Tyr,ENST00000415432,;VAV3,missense_variant,p.Asp217Tyr,ENST00000544443,;VAV3,missense_variant,p.Asp841Tyr,ENST00000527011,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,3_prime_UTR_variant,,ENST00000529413,;	2712	269	128	SUCCESS
CPSF3L	0	.	GRCh37	1	1257366	1257366	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	71	210	0	ENST00000540437.1:c.-31-2A>C		p.X11_splice	ENST00000540437	NM_001256456.1	11		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS57960.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCCAC	NONE	.	.	.	.	.	ENSP00000445001	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000540437	Transcript	.	.	ENSG00000127054	26052	.	.	HIGH	2/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT11_HUMAN	CPSF3L	HGNC	J3QRY6_HUMAN,E9PNH9_HUMAN,E9PI75_HUMAN	.	UPI0000EE7E27	SNV	CPSF3L,splice_acceptor_variant,,ENST00000527719,;CPSF3L,splice_acceptor_variant,,ENST00000540437,;CPSF3L,splice_region_variant,,ENST00000498476,;CPSF3L,intron_variant,,ENST00000419704,;CPSF3L,intron_variant,,ENST00000450926,;CPSF3L,intron_variant,,ENST00000434694,;CPSF3L,intron_variant,,ENST00000545578,;CPSF3L,intron_variant,,ENST00000530031,;CPSF3L,intron_variant,,ENST00000435064,;CPSF3L,intron_variant,,ENST00000526332,;CPSF3L,intron_variant,,ENST00000534345,;CPSF3L,intron_variant,,ENST00000421495,;CPSF3L,intron_variant,,ENST00000411962,;GLTPD1,upstream_gene_variant,,ENST00000343938,;GLTPD1,upstream_gene_variant,,ENST00000488011,;RP5-890O3.9,upstream_gene_variant,,ENST00000444968,;CPSF3L,intron_variant,,ENST00000490853,;CPSF3L,intron_variant,,ENST00000532952,;CPSF3L,intron_variant,,ENST00000493534,;GLTPD1,upstream_gene_variant,,ENST00000464957,;CPSF3L,upstream_gene_variant,,ENST00000462432,;CPSF3L,splice_acceptor_variant,,ENST00000430786,;CPSF3L,splice_acceptor_variant,,ENST00000458452,;CPSF3L,intron_variant,,ENST00000531019,;CPSF3L,intron_variant,,ENST00000470679,;CPSF3L,intron_variant,,ENST00000532772,;CPSF3L,intron_variant,,ENST00000323275,;CPSF3L,intron_variant,,ENST00000488042,;CPSF3L,intron_variant,,ENST00000528879,;CPSF3L,intron_variant,,ENST00000525285,;CPSF3L,intron_variant,,ENST00000526904,;CPSF3L,intron_variant,,ENST00000429572,;CPSF3L,intron_variant,,ENST00000498173,;CPSF3L,intron_variant,,ENST00000496353,;CPSF3L,intron_variant,,ENST00000526797,;CPSF3L,intron_variant,,ENST00000526113,;CPSF3L,intron_variant,,ENST00000527098,;CPSF3L,upstream_gene_variant,,ENST00000531377,;CPSF3L,downstream_gene_variant,,ENST00000530233,;CPSF3L,upstream_gene_variant,,ENST00000525603,;	.	210	136	SUCCESS
TNFAIP8L2	79626	.	GRCh37	1	151131353	151131353	+	synonymous_variant	Silent	SNP	C	C	T	rs373860659	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	119	447	1	ENST00000368910.3:c.180C>T	p.Ile60=	p.I60=	ENST00000368910	NM_024575.4	60	atC/atT	0	G:0	.	.	.	.	T	I	protein_coding	YES	CCDS985.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATCAAGGA	NONE	byFrequency|byCluster	.	Pfam_domain:PF05527,hmmpanther:PTHR12757:SF4,hmmpanther:PTHR12757	.	G:0.0001	ENSP00000357906	.	2/2	.	.	.	.	.	.	.	.	rs373860659	2/2	nonpreferredpair	ENST00000368910	Transcript	.	.	ENSG00000163154	26277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TP8L2_HUMAN	TNFAIP8L2	HGNC	.	.	UPI00000373B5	SNV	TNFAIP8L2,synonymous_variant,p.%3D,ENST00000368910,;SCNM1,intron_variant,,ENST00000602841,;LYSMD1,downstream_gene_variant,,ENST00000440902,;LYSMD1,downstream_gene_variant,,ENST00000368908,;	306	448	358	SUCCESS
FLG	2312	.	GRCh37	1	152278798	152278798	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767814906	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	579	217	732	2	ENST00000368799.1:c.8564G>A	p.Gly2855Glu	p.G2855E	ENST00000368799	NM_002016.1	2855	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS30860.1	8564	RADIA|VARSCANS	.	GCGACCCTGAG	BUFFER|p.R2857H|c.8570G>A|3	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs767814906	3/3	nonpreferredpair	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.466)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gly2855Glu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8600	734	796	SUCCESS
CHTOP	26097	.	GRCh37	1	153610685	153610685	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	30	61	0	ENST00000368694.3:c.66-86G>T		p.*22*	ENST00000368694	NM_001206612.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1048.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGCTCCT	NONE	.	.	.	.	.	ENSP00000357683	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000368694	Transcript	.	.	ENSG00000160679	24511	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHTOP_HUMAN	CHTOP	HGNC	.	.	UPI00000467F6	SNV	CHTOP,5_prime_UTR_variant,,ENST00000368687,;CHTOP,intron_variant,,ENST00000368690,;CHTOP,intron_variant,,ENST00000403433,;CHTOP,intron_variant,,ENST00000368694,;CHTOP,upstream_gene_variant,,ENST00000368686,;S100A13,upstream_gene_variant,,ENST00000368699,;RP1-178F15.4,upstream_gene_variant,,ENST00000469931,;CHTOP,non_coding_transcript_exon_variant,,ENST00000495554,;RP1-178F15.5,upstream_gene_variant,,ENST00000484413,;RP1-178F15.5,upstream_gene_variant,,ENST00000472233,;RP1-178F15.5,upstream_gene_variant,,ENST00000497086,;	.	61	52	SUCCESS
CD1B	910	.	GRCh37	1	158301185	158301185	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1021805831	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	59	316	0	ENST00000368168.3:c.29C>A	p.Ala10Asp	p.A10D	ENST00000368168	NM_001764.2	10	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1176.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAGCTAAC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16675:SF130,hmmpanther:PTHR16675	.	.	ENSP00000357150	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.16)	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,missense_variant,p.Ala10Asp,ENST00000368168,;CD1B,upstream_gene_variant,,ENST00000451207,;	137	316	268	SUCCESS
DARC	0	.	GRCh37	1	159175737	159175737	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	126	0	ENST00000368122.2:c.508A>T	p.Thr170Ser	p.T170S	ENST00000368122	NM_002036.3	170	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS44252.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCACTGTG	BUFFER|p.L169L|c.507G>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559	.	.	ENSP00000357103	.	1/1	.	.	.	.	.	.	.	.	COSM3976354,COSM3976353	1/1	nonpreferredpair	ENST00000368121	Transcript	.	.	ENSG00000213088	4035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.011)	.	tolerated(0.29)	1,1	ACKR1_HUMAN	DARC	HGNC	Q5Y7A1_HUMAN,Q5JY94_HUMAN,Q4VBN9_HUMAN	.	UPI000013E1B0	SNV	DARC,missense_variant,p.Thr170Ser,ENST00000368122,;DARC,missense_variant,p.Thr170Ser,ENST00000537147,;DARC,missense_variant,p.Thr172Ser,ENST00000368121,;CADM3,downstream_gene_variant,,ENST00000368124,;CADM3,downstream_gene_variant,,ENST00000368125,;DARC,downstream_gene_variant,,ENST00000435307,;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;CADM3,downstream_gene_variant,,ENST00000497636,;	537	126	99	SUCCESS
ANGPTL1	9068	.	GRCh37	1	178822882	178822882	+	synonymous_variant	Silent	SNP	A	A	G	rs1358532602	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	107	0	ENST00000234816.2:c.864T>C	p.His288=	p.H288=	ENST00000234816	NM_004673.3	288	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS1327.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGAATGCCC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF25,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000234816	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000234816	Transcript	.	.	ENSG00000116194	489	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGL1_HUMAN	ANGPTL1	HGNC	.	.	UPI000004C64E	SNV	ANGPTL1,synonymous_variant,p.%3D,ENST00000234816,;ANGPTL1,synonymous_variant,p.%3D,ENST00000367629,;RALGPS2,intron_variant,,ENST00000324778,;RALGPS2,intron_variant,,ENST00000367635,;RALGPS2,intron_variant,,ENST00000367634,;RALGPS2,intron_variant,,ENST00000495034,;	1312	107	98	SUCCESS
CACNA1E	777	.	GRCh37	1	181767517	181767517	+	synonymous_variant	Silent	SNP	G	G	A	rs377180948	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	89	0	ENST00000367573.2:c.6489G>A	p.Pro2163=	p.P2163=	ENST00000367573	NM_001205293.1	2163	ccG/ccA	0	T:0.0005	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS55664.1	6489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGCCAAA	BUFFER|p.P2120L|c.6359C>T|3,BUFFER|p.P2163L|c.6488C>T|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	A:0	T:0	ENSP00000356545	A:0	48/48	.	.	.	.	.	.	.	.	rs377180948,COSM80956,COSM3934317,COSM3934318,COSM3934316	48/48	nonpreferredpair	ENST00000367573	Transcript	.	A:0.0002	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	A:0	.	0,1,1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;	6489	89	98	SUCCESS
TGFB2	7042	.	GRCh37	1	218609331	218609331	+	synonymous_variant	Silent	SNP	A	A	G	rs1271642210	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	82	0	ENST00000366930.4:c.774A>G	p.Thr258=	p.T258=	ENST00000366930	NM_003238.3	258	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS44318.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACATATAC	NONE	.	.	PIRSF_domain:PIRSF001787,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141	.	.	ENSP00000355896	.	6/8	.	.	.	.	.	.	.	.	.	6/8	nonpreferredpair	ENST00000366929	Transcript	.	.	ENSG00000092969	11768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGFB2_HUMAN	TGFB2	HGNC	.	.	UPI000016B0C1	SNV	TGFB2,synonymous_variant,p.%3D,ENST00000366929,;TGFB2,synonymous_variant,p.%3D,ENST00000366930,;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;TGFB2,downstream_gene_variant,,ENST00000488793,;	1325	82	69	SUCCESS
DEGS1	8560	.	GRCh37	1	224377758	224377758	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	126	0	ENST00000323699.4:c.562A>T	p.Ile188Phe	p.I188F	ENST00000323699	NM_003676.3	188	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS1540.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTATCAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12879,hmmpanther:PTHR12879:SF2,Pfam_domain:PF00487,PIRSF_domain:PIRSF017228	.	.	ENSP00000316476	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000323699	Transcript	.	.	ENSG00000143753	13709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.21)	.	DEGS1_HUMAN	DEGS1	HGNC	.	.	UPI000007137B	SNV	DEGS1,missense_variant,p.Ile167Phe,ENST00000415210,;DEGS1,missense_variant,p.Ile188Phe,ENST00000391877,;DEGS1,missense_variant,p.Ile188Phe,ENST00000323699,;DEGS1,downstream_gene_variant,,ENST00000465848,;DEGS1,upstream_gene_variant,,ENST00000498813,;	728	126	80	SUCCESS
OR2M7	391196	.	GRCh37	1	248487413	248487413	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	249	495	0	ENST00000317965.2:c.458C>A	p.Ser153Tyr	p.S153Y	ENST00000317965	NM_001004691.1	153	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS31111.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAGAGCCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000317965	Transcript	.	.	ENSG00000177186	19594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.27)	.	OR2M7_HUMAN	OR2M7	HGNC	.	.	UPI000004B236	SNV	OR2M7,missense_variant,p.Ser153Tyr,ENST00000317965,;	487	495	429	SUCCESS
CCDC30	728621	.	GRCh37	1	43076659	43076659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	88	0	ENST00000340612.4:c.1394G>A	p.Ser465Asn	p.S465N	ENST00000340612		465	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS30690.1	1394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGCAACC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000397035	.	17/23	.	.	.	.	.	.	.	.	.	17/23	nonpreferredpair	ENST00000428554	Transcript	.	.	ENSG00000186409	26103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.31)	.	CCD30_HUMAN	CCDC30	HGNC	D6RFH8_HUMAN	.	UPI0000458A0B	SNV	CCDC30,missense_variant,p.Ser254Asn,ENST00000390640,;CCDC30,missense_variant,p.Ser254Asn,ENST00000507855,;CCDC30,missense_variant,p.Ser465Asn,ENST00000428554,;CCDC30,missense_variant,p.Ser465Asn,ENST00000340612,;CCDC30,missense_variant,p.Ser465Asn,ENST00000342022,;CCDC30,missense_variant,p.Ser163Asn,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;	2537	88	34	SUCCESS
EBF4	57593	.	GRCh37	20	2732565	2732565	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	51	0	ENST00000609451.1:c.1108-3C>T		p.X370_splice	ENST00000609451		370		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46573.1	.	RADIA|MUSE	.	GTCCCCAGGAA	NONE	.	.	.	.	.	ENSP00000370022	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000380648	Transcript	.	.	ENSG00000088881	29278	.	.	LOW	12/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EBF4	HGNC	Q7Z5T1_HUMAN,E9PEI2_HUMAN	.	UPI00001C2038	SNV	EBF4,splice_region_variant,,ENST00000380648,;EBF4,splice_region_variant,,ENST00000342725,;EBF4,splice_region_variant,,ENST00000609451,;EBF4,intron_variant,,ENST00000463145,;EBF4,splice_region_variant,,ENST00000491472,;EBF4,upstream_gene_variant,,ENST00000477287,;EBF4,downstream_gene_variant,,ENST00000469215,;EBF4,upstream_gene_variant,,ENST00000481662,;EBF4,splice_region_variant,,ENST00000609967,;EBF4,splice_region_variant,,ENST00000449079,;	.	51	41	SUCCESS
NFS1	9054	.	GRCh37	20	34263098	34263098	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200454792	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	70	261	0	ENST00000374092.4:c.817C>T	p.Arg273Trp	p.R273W	ENST00000374092	NM_021100.4	273	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS13262.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGCGAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF005572,Pfam_domain:PF00266,TIGRFAM_domain:TIGR02006,Gene3D:3.40.640.10,hmmpanther:PTHR11601,hmmpanther:PTHR11601:SF20,HAMAP:MF_00331	A:0.001	.	ENSP00000363205	A:0	8/13	.	.	.	.	.	.	.	.	rs200454792	8/13	nonpreferredpair	ENST00000374092	Transcript	1	A:0.0002	ENSG00000244005	15910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	deleterious(0)	.	NFS1_HUMAN	NFS1	HGNC	Q5QP19_HUMAN,B4DNL7_HUMAN,A2A2M1_HUMAN	.	UPI000013D34D	SNV	NFS1,missense_variant,p.Arg213Trp,ENST00000397425,;NFS1,missense_variant,p.Arg213Trp,ENST00000374085,;NFS1,missense_variant,p.Arg273Trp,ENST00000374092,;NFS1,missense_variant,p.Arg222Trp,ENST00000541387,;NFS1,missense_variant,p.Arg71Trp,ENST00000540053,;NFS1,non_coding_transcript_exon_variant,,ENST00000489163,;NFS1,upstream_gene_variant,,ENST00000498084,;NFS1,non_coding_transcript_exon_variant,,ENST00000480655,;NFS1,intron_variant,,ENST00000440385,;NFS1,upstream_gene_variant,,ENST00000471137,;RP1-309K20.6,upstream_gene_variant,,ENST00000541176,;RP1-309K20.6,upstream_gene_variant,,ENST00000454607,;RP1-309K20.6,upstream_gene_variant,,ENST00000441563,;	888	261	138	SUCCESS
RBL1	5933	.	GRCh37	20	35683995	35683995	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775397215	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	88	0	ENST00000373664.3:c.1428G>A	p.Met476Ile	p.M476I	ENST00000373664	NM_002895.3	476	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13289.1	1428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCATTAC	NONE	.	.	hmmpanther:PTHR13742:SF20,hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000362768	.	11/22	.	.	.	.	.	.	.	.	rs775397215,COSM3545980	11/22	nonpreferredpair	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.012)	.	tolerated(1)	0,1	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,missense_variant,p.Met476Ile,ENST00000373664,;RBL1,missense_variant,p.Met476Ile,ENST00000344359,;RBL1,downstream_gene_variant,,ENST00000525052,;	1495	88	70	SUCCESS
IGLV4-60	28785	.	GRCh37	22	22516956	22516956	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747059706	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	48	222	0	ENST00000390284.2:c.244G>A	p.Gly82Arg	p.G82R	ENST00000390284		82	Gga/Aga	0	.	.	.	.	.	A	G/R	IG_V_gene	YES	.	244	RADIA|MUTECT|MUSE	.	GGAGCGGAGTT	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF9,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374819	.	2/2	.	.	.	.	.	.	.	.	rs747059706	2/2	nonpreferredpair	ENST00000390284	Transcript	.	.	ENSG00000211639	5920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.352)	.	deleterious(0.03)	.	.	IGLV4-60	HGNC	Q5NV79_HUMAN	.	UPI0001611017	SNV	IGLV4-60,missense_variant,p.Gly82Arg,ENST00000390284,;LL22NC03-30E12.11,downstream_gene_variant,,ENST00000440562,;	244	222	162	SUCCESS
POM121L1P	25812	.	GRCh37	22	22985207	22985207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	47	223	0	ENST00000402027.1:n.1738C>A		p.*580*	ENST00000402027				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13802.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGCCCCT	NONE	.	3609	.	.	.	ENSP00000419751	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000480559	Transcript	.	.	ENSG00000100121	18596	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGTL2_HUMAN	GGTLC2	HGNC	.	.	UPI00004210AD	SNV	GGTLC2,upstream_gene_variant,,ENST00000480559,;GGTLC2,upstream_gene_variant,,ENST00000448514,;POM121L1P,non_coding_transcript_exon_variant,,ENST00000402027,;GGTLC2,upstream_gene_variant,,ENST00000417145,;POM121L1P,non_coding_transcript_exon_variant,,ENST00000605258,;	.	223	148	SUCCESS
NBAS	51594	.	GRCh37	2	15378653	15378653	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	137	0	ENST00000281513.5:c.5882C>G	p.Ser1961Ter	p.S1961*	ENST00000281513	NM_015909.3	1961	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS1685.1	5882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTGATTTC	NONE	.	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	45/52	.	.	.	.	.	.	.	.	.	45/52	nonpreferredpair	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,stop_gained,p.Ser1841Ter,ENST00000441750,;NBAS,stop_gained,p.Ser1961Ter,ENST00000281513,;NBAS,stop_gained,p.Ser1009Ter,ENST00000442506,;NBAS,stop_gained,p.Ser53Ter,ENST00000417461,;	5908	137	72	SUCCESS
TTN	7273	.	GRCh37	2	179499955	179499955	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	153	0	ENST00000591111.1:c.37038A>C	p.Glu12346Asp	p.E12346D	ENST00000591111		12346	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS59435.1	41961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATTTCTGC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	228/363	.	.	.	.	.	.	.	.	.	228/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu5047Asp,ENST00000359218,;TTN,missense_variant,p.Glu12346Asp,ENST00000591111,;TTN,missense_variant,p.Glu13987Asp,ENST00000589042,;TTN,missense_variant,p.Glu11419Asp,ENST00000342992,;TTN,missense_variant,p.Glu5114Asp,ENST00000342175,;TTN,missense_variant,p.Glu4922Asp,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000426232,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;	42186	153	105	SUCCESS
APOB	338	.	GRCh37	2	21229380	21229381	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	169	44	244	0	ENST00000233242.1:c.10359dup	p.Val3454CysfsTer8	p.V3454Cfs*8	ENST00000233242	NM_000384.2	3453	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1703.1	10359-10360	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGACAGTAG	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	nonpreferredpair	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.Val3454CysfsTer8,ENST00000233242,;	10487-10488	244	213	SUCCESS
SULT6B1	391365	.	GRCh37	2	37414600	37414600	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	34	0	ENST00000535679.1:c.210G>T	p.Trp70Cys	p.W70C	ENST00000535679		70	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33182.1	96	MUTECT|MUSE	.	AGAATCCAGTT	NONE	.	.	hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF55,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000260637	.	2/7	.	.	.	.	.	.	.	.	COSM3581433,COSM3581434	2/7	nonpreferredpair	ENST00000260637	Transcript	.	.	ENSG00000138068	33433	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	ST6B1_HUMAN	SULT6B1	HGNC	.	.	UPI0000041280	SNV	SULT6B1,missense_variant,p.Trp70Cys,ENST00000535679,;SULT6B1,missense_variant,p.Trp32Cys,ENST00000407963,;SULT6B1,missense_variant,p.Trp32Cys,ENST00000260637,;SULT6B1,missense_variant,p.Trp70Cys,ENST00000379149,;SULT6B1,downstream_gene_variant,,ENST00000433192,;SULT6B1,downstream_gene_variant,,ENST00000420611,;SULT6B1,downstream_gene_variant,,ENST00000416345,;	117	34	19	SUCCESS
LHCGR	3973	.	GRCh37	2	48958372	48958372	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	46	0	ENST00000294954.7:c.227T>G	p.Ile76Arg	p.I76R	ENST00000294954	NM_000233.3	76	aTa/aGa	0	.	.	.	.	.	C	I/R	protein_coding	YES	CCDS1842.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATGACC	NONE	.	.	hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Gene3D:3.80.10.10,Pfam_domain:PF13306,Superfamily_domains:SSF52058	.	.	ENSP00000294954	.	2/11	.	.	.	.	.	.	.	.	COSM1582532	2/11	nonpreferredpair	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.251)	.	tolerated(0.41)	1	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,missense_variant,p.Ile76Arg,ENST00000403273,;LHCGR,missense_variant,p.Ile76Arg,ENST00000405626,;LHCGR,missense_variant,p.Ile42Arg,ENST00000428232,;LHCGR,missense_variant,p.Ile76Arg,ENST00000344775,;LHCGR,missense_variant,p.Ile76Arg,ENST00000401907,;LHCGR,missense_variant,p.Ile76Arg,ENST00000294954,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,missense_variant,p.Ile76Arg,ENST00000602369,;	249	46	25	SUCCESS
SPTBN1	6711	.	GRCh37	2	54876897	54876897	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	72	324	0	ENST00000356805.4:c.5348T>G	p.Leu1783Arg	p.L1783R	ENST00000356805	NM_003128.2	1783	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS33198.1	5348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCAATG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	26/36	.	.	.	.	.	.	.	.	.	26/36	nonpreferredpair	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Leu1770Arg,ENST00000333896,;SPTBN1,missense_variant,p.Leu1783Arg,ENST00000356805,;SPTBN1,upstream_gene_variant,,ENST00000496323,;	5629	324	238	SUCCESS
MBOAT2	129642	.	GRCh37	2	9022691	9022691	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	44	213	1	ENST00000305997.3:c.456G>A	p.Met152Ile	p.M152I	ENST00000305997	NM_138799.2	152	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1660.1	456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAACATCCC	NONE	.	.	Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7	.	.	ENSP00000302177	.	6/13	.	.	.	.	.	.	.	.	.	6/13	nonpreferredpair	ENST00000305997	Transcript	.	.	ENSG00000143797	25193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.29)	.	MBOA2_HUMAN	MBOAT2	HGNC	B0AZU0_HUMAN	.	UPI0000231CFB	SNV	MBOAT2,missense_variant,p.Met129Ile,ENST00000462696,;MBOAT2,missense_variant,p.Met152Ile,ENST00000305997,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,3_prime_UTR_variant,,ENST00000477073,;	655	214	141	SUCCESS
GOLGB1	2804	.	GRCh37	3	121416717	121416717	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	116	0	ENST00000340645.5:c.2638C>T	p.Gln880Ter	p.Q880*	ENST00000340645	NM_001256487.1	880	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS58847.1	2653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGATCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	13/22	.	.	.	.	.	.	.	.	.	13/22	nonpreferredpair	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,stop_gained,p.Gln885Ter,ENST00000393667,;GOLGB1,stop_gained,p.Gln880Ter,ENST00000340645,;GOLGB1,stop_gained,p.Gln844Ter,ENST00000494517,;GOLGB1,stop_gained,p.Gln751Ter,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	2764	116	88	SUCCESS
FAM86HP	729375	.	GRCh37	3	129823040	129823040	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1333049556	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	351	148	663	0	ENST00000513466.1:n.411G>A		p.*137*	ENST00000513466				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCCCATT	NONE	.	.	.	.	.	.	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000513466	Transcript	.	.	ENSG00000253540	42359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM86HP	HGNC	.	.	.	SNV	FAM86HP,non_coding_transcript_exon_variant,,ENST00000500074,;FAM86HP,non_coding_transcript_exon_variant,,ENST00000515245,;ALG1L2,intron_variant,,ENST00000511726,;FAM86HP,upstream_gene_variant,,ENST00000511564,;FAM86HP,upstream_gene_variant,,ENST00000506448,;FAM86HP,non_coding_transcript_exon_variant,,ENST00000513466,;	411	663	500	SUCCESS
NLGN1	22871	.	GRCh37	3	173998531	173998531	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	49	215	0	ENST00000457714.1:c.1910G>T	p.Arg637Ile	p.R637I	ENST00000457714	NM_014932.3	637	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS3222.1	1910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGACCTA	NONE	.	.	.	.	.	ENSP00000392500	.	7/7	.	.	.	.	.	.	.	.	COSM2149815,COSM2149816	7/7	nonpreferredpair	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.571)	.	tolerated(0.44)	1,1	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Arg677Ile,ENST00000401917,;NLGN1,missense_variant,p.Arg637Ile,ENST00000457714,;NLGN1,missense_variant,p.Arg637Ile,ENST00000361589,;NLGN1,missense_variant,p.Arg637Ile,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;	2339	215	148	SUCCESS
KCNMB3	27094	.	GRCh37	3	178984440	178984440	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	99	0	ENST00000349697.2:c.59G>A	p.Gly20Glu	p.G20E	ENST00000349697	NM_171828.2	20	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	.	CCDS3225.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCCCTGG	NONE	.	.	hmmpanther:PTHR10258:SF4,hmmpanther:PTHR10258	.	.	ENSP00000327866	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000349697	Transcript	.	.	ENSG00000171121	6287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.04)	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA9C	SNV	KCNMB3,missense_variant,p.Gly20Glu,ENST00000349697,;KCNMB3,missense_variant,p.Gly20Glu,ENST00000497599,;	320	99	61	SUCCESS
EHHADH	1962	.	GRCh37	3	184947229	184947229	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	141	0	ENST00000231887.3:c.454A>G	p.Ile152Val	p.I152V	ENST00000231887	NM_001166415.1	152	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33901.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAATTAAGT	NONE	.	.	hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096	.	.	ENSP00000231887	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.356)	.	tolerated(0.06)	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,missense_variant,p.Ile56Val,ENST00000456310,;EHHADH,missense_variant,p.Ile152Val,ENST00000231887,;EHHADH,non_coding_transcript_exon_variant,,ENST00000475987,;EHHADH,intron_variant,,ENST00000483104,;	530	141	96	SUCCESS
GADL1	339896	.	GRCh37	3	30819694	30819694	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs145224145	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	67	362	0	ENST00000282538.5:c.1369G>T	p.Glu457Ter	p.E457*	ENST00000282538	NM_207359.2	457	Gag/Tag	0	.	T:0.0008	.	T:0	.	A	E/*	protein_coding	YES	CCDS2649.2	1369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCGGGTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	T:0	.	ENSP00000282538	T:0	14/15	.	.	.	.	.	.	.	.	rs145224145,COSM3765078,COSM3765077	14/15	nonpreferredpair	ENST00000282538	Transcript	.	T:0.0002	ENSG00000144644	27949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0	.	0,1,1	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,stop_gained,p.Glu457Ter,ENST00000282538,;GADL1,non_coding_transcript_exon_variant,,ENST00000498387,;	1520	362	205	SUCCESS
UBP1	7342	.	GRCh37	3	33444346	33444346	+	synonymous_variant	Silent	SNP	G	G	C	rs182819320	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	41	0	ENST00000283628.5:c.978C>G	p.Ser326=	p.S326=	ENST00000283628		326	tcC/tcG	0	.	A:0	.	A:0	.	C	S	protein_coding	YES	CCDS2659.1	978	MUTECT|MUSE	.	GCTGGGGAAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF13	A:0.001	.	ENSP00000283629	A:0	9/16	.	.	.	.	.	.	.	.	rs182819320	9/16	nonpreferredpair	ENST00000283629	Transcript	.	A:0.0002	ENSG00000153560	12507	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	UBIP1_HUMAN	UBP1	HGNC	C9JWL3_HUMAN	.	UPI00000701D7	SNV	UBP1,synonymous_variant,p.%3D,ENST00000283628,;UBP1,synonymous_variant,p.%3D,ENST00000283629,;UBP1,synonymous_variant,p.%3D,ENST00000447368,;UBP1,non_coding_transcript_exon_variant,,ENST00000467613,;UBP1,non_coding_transcript_exon_variant,,ENST00000486388,;FBXL2,intron_variant,,ENST00000463736,;UBP1,synonymous_variant,p.%3D,ENST00000411650,;UBP1,upstream_gene_variant,,ENST00000492136,;UBP1,upstream_gene_variant,,ENST00000490112,;	1508	41	36	SUCCESS
SNRK	54861	.	GRCh37	3	43381915	43381915	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs772506538	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	63	274	0	ENST00000296088.7:c.868C>G	p.Leu290Val	p.L290V	ENST00000296088	NM_017719.4	290	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43075.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCTCTCG	NONE	.	.	hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343,Superfamily_domains:SSF56112	.	.	ENSP00000296088	.	5/7	.	.	.	.	.	.	.	.	rs772506538	5/7	nonpreferredpair	ENST00000296088	Transcript	.	.	ENSG00000163788	30598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.15)	.	SNRK_HUMAN	SNRK	HGNC	E7EUC4_HUMAN	.	UPI00000558E4	SNV	SNRK,missense_variant,p.Leu290Val,ENST00000296088,;SNRK,missense_variant,p.Leu290Val,ENST00000454177,;SNRK,missense_variant,p.Leu84Val,ENST00000437827,;SNRK,missense_variant,p.Leu290Val,ENST00000429705,;SNRK,upstream_gene_variant,,ENST00000468628,;SNRK,non_coding_transcript_exon_variant,,ENST00000484791,;SNRK,upstream_gene_variant,,ENST00000481892,;	1172	274	197	SUCCESS
TLR9	54106	.	GRCh37	3	52256679	52256679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	237	0	ENST00000360658.2:c.1653C>A	p.Asp551Glu	p.D551E	ENST00000360658	NM_017442.3	551	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	.	2115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGTCCAG	NONE	.	.	hmmpanther:PTHR24373:SF37,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000417517	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000494383	Transcript	.	.	ENSG00000173366	15633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	TLR9	Uniprot_gn	C3W5P5_HUMAN	.	UPI0001B795AC	SNV	TLR9,missense_variant,p.Asp705Glu,ENST00000494383,;TLR9,missense_variant,p.Asp575Glu,ENST00000597542,;TLR9,missense_variant,p.Asp551Glu,ENST00000360658,;TLR9,downstream_gene_variant,,ENST00000478201,;	2113	237	117	SUCCESS
OR5K3	403277	.	GRCh37	3	98109590	98109590	+	synonymous_variant	Silent	SNP	G	G	C	rs771561906	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	52	340	0	ENST00000383695.1:c.81G>C	p.Leu27=	p.L27=	ENST00000383695	NM_001005516.1	27	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33803.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGTTTGT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF247,hmmpanther:PTHR26452	.	.	ENSP00000373194	.	1/1	.	.	.	.	.	.	.	.	rs771561906	1/1	nonpreferredpair	ENST00000383695	Transcript	.	.	ENSG00000206536	31290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5K3_HUMAN	OR5K3	HGNC	.	.	UPI000044D40F	SNV	OR5K3,synonymous_variant,p.%3D,ENST00000383695,;RP11-325B23.2,intron_variant,,ENST00000508616,;	81	340	198	SUCCESS
ST3GAL6	10402	.	GRCh37	3	98487331	98487331	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	173	0	ENST00000394162.1:c.47A>C	p.Tyr16Ser	p.Y16S	ENST00000394162	NM_006100.3	16	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS2933.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATTATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13713:SF8,hmmpanther:PTHR13713,PIRSF_domain:PIRSF005557	.	.	ENSP00000377717	.	3/11	.	.	.	.	.	.	.	.	.	3/11	nonpreferredpair	ENST00000394162	Transcript	.	.	ENSG00000064225	18080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.01)	.	SIA10_HUMAN	ST3GAL6	HGNC	C9JXM2_HUMAN,C9JWJ3_HUMAN,C9J0E2_HUMAN	.	UPI0000073CE3	SNV	ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000486334,;ST3GAL6,missense_variant,p.Tyr39Ser,ENST00000492254,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000460774,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000394162,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000483910,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000468553,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000485391,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000497008,;ST3GAL6,5_prime_UTR_variant,,ENST00000265261,;ST3GAL6,upstream_gene_variant,,ENST00000485145,;ST3GAL6,upstream_gene_variant,,ENST00000477574,;ST3GAL6,intron_variant,,ENST00000466482,;ST3GAL6,intron_variant,,ENST00000462152,;ST3GAL6,intron_variant,,ENST00000480133,;ST3GAL6,upstream_gene_variant,,ENST00000474595,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000469105,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000476833,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000495376,;ST3GAL6,missense_variant,p.Tyr16Ser,ENST00000486249,;ST3GAL6,3_prime_UTR_variant,,ENST00000497621,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000489112,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000490684,;	514	173	108	SUCCESS
CENPE	1062	.	GRCh37	4	104066455	104066455	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	55	0	ENST00000265148.3:c.4609A>G	p.Ile1537Val	p.I1537V	ENST00000265148	NM_001813.2	1537	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34042.1	4609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATATTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	32/49	.	.	.	.	.	.	.	.	.	32/49	nonpreferredpair	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Ile1512Val,ENST00000380026,;CENPE,missense_variant,p.Ile1537Val,ENST00000265148,;CENPE,downstream_gene_variant,,ENST00000515478,;	4699	55	44	SUCCESS
OTOP1	133060	.	GRCh37	4	4199475	4199475	+	synonymous_variant	Silent	SNP	C	C	A	rs1405393364	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	49	217	0	ENST00000296358.4:c.1086G>T	p.Gly362=	p.G362=	ENST00000296358	NM_177998.1	362	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3372.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCCCCAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000296358	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,synonymous_variant,p.%3D,ENST00000296358,;	1111	217	162	SUCCESS
CTNND2	1501	.	GRCh37	5	11117631	11117631	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	64	251	0	ENST00000304623.8:c.2208T>A	p.Cys736Ter	p.C736*	ENST00000304623	NM_001332.2	736	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS3881.1	2208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCACACTC	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	13/22	.	.	.	.	.	.	.	.	.	13/22	nonpreferredpair	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,stop_gained,p.Cys736Ter,ENST00000304623,;CTNND2,stop_gained,p.Cys736Ter,ENST00000359640,;CTNND2,stop_gained,p.Cys399Ter,ENST00000503622,;CTNND2,stop_gained,p.Cys645Ter,ENST00000511377,;CTNND2,stop_gained,p.Cys303Ter,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,stop_gained,p.Cys490Ter,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2398	251	203	SUCCESS
ADAM19	8728	.	GRCh37	5	156918883	156918885	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	223	0	ENST00000517905.1:c.1944_1946del	p.Phe649del	p.F649del	ENST00000517905		648	ttCTTt/ttt	0	.	.	.	.	.	-	FF/F	protein_coding	YES	CCDS4338.1	1944-1946	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTCAAAGAAGGA	NONE	.	.	hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905	.	.	ENSP00000257527	.	17/23	.	.	.	.	.	.	.	.	.	17/23	nonpreferredpair	ENST00000257527	Transcript	.	.	ENSG00000135074	197	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA19_HUMAN	ADAM19	HGNC	.	.	UPI000013CF6A	deletion	ADAM19,inframe_deletion,p.Phe382del,ENST00000430702,;ADAM19,inframe_deletion,p.Phe651del,ENST00000394020,;ADAM19,inframe_deletion,p.Phe649del,ENST00000517905,;ADAM19,inframe_deletion,p.Phe649del,ENST00000257527,;ADAM19,inframe_deletion,p.Phe220del,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	2023-2025	223	141	SUCCESS
CANX	821	.	GRCh37	5	179150758	179150758	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	152	0	ENST00000247461.4:c.1496T>A	p.Ile499Asn	p.I499N	ENST00000247461	NM_001746.3	499	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS4447.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTATCCTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF11	.	.	ENSP00000247461	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000247461	Transcript	.	.	ENSG00000127022	1473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	deleterious(0.01)	.	CALX_HUMAN	CANX	HGNC	D6RHJ3_HUMAN,D6RFW4_HUMAN,D6RFL1_HUMAN,D6RDP7_HUMAN,D6RB85_HUMAN,D6RAU8_HUMAN,D6RAQ8_HUMAN,B4E2T8_HUMAN	.	UPI000000D9F9	SNV	CANX,missense_variant,p.Ile499Asn,ENST00000247461,;CANX,missense_variant,p.Ile534Asn,ENST00000415618,;CANX,missense_variant,p.Ile499Asn,ENST00000504734,;CANX,missense_variant,p.Ile391Asn,ENST00000512607,;CANX,missense_variant,p.Ile499Asn,ENST00000452673,;CANX,downstream_gene_variant,,ENST00000502673,;CANX,upstream_gene_variant,,ENST00000503303,;CANX,3_prime_UTR_variant,,ENST00000514032,;CANX,non_coding_transcript_exon_variant,,ENST00000505090,;	1696	152	92	SUCCESS
RAD1	5810	.	GRCh37	5	34914910	34914910	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1230877171	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	63	344	0	ENST00000341754.4:c.88A>G	p.Ile30Val	p.I30V	ENST00000341754		30	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3905.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATAGTGG	NONE	.	.	Prints_domain:PR01245,Gene3D:3.70.10.10,Pfam_domain:PF02144,hmmpanther:PTHR10870	.	.	ENSP00000371469	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000382038	Transcript	.	.	ENSG00000113456	9806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.17)	.	RAD1_HUMAN	RAD1	HGNC	.	.	UPI000003159B	SNV	RAD1,missense_variant,p.Ile30Val,ENST00000341754,;RAD1,missense_variant,p.Ile30Val,ENST00000382038,;BRIX1,upstream_gene_variant,,ENST00000336767,;BRIX1,upstream_gene_variant,,ENST00000506023,;RAD1,missense_variant,p.Ile30Val,ENST00000511456,;RAD1,missense_variant,p.Ile30Val,ENST00000325577,;RAD1,missense_variant,p.Ile30Val,ENST00000513914,;RAD1,non_coding_transcript_exon_variant,,ENST00000506311,;BRIX1,upstream_gene_variant,,ENST00000510834,;BRIX1,upstream_gene_variant,,ENST00000515798,;BRIX1,upstream_gene_variant,,ENST00000510960,;RAD1,upstream_gene_variant,,ENST00000512192,;	1508	344	236	SUCCESS
KPNA5	3841	.	GRCh37	6	117019926	117019927	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	82	0	ENST00000356348.1:c.401_402del	p.Lys134IlefsTer3	p.K134Ifs*3	ENST00000356348	NM_002269.2	134	AAa/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS5111.1	400-401	INDELOCATOR|VARSCANI	.	TTTGTGAAATTTC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10	.	.	ENSP00000357552	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000368564	Transcript	.	.	ENSG00000196911	6398	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMA6_HUMAN	KPNA5	HGNC	Q5TD90_HUMAN	.	UPI000000DBE6	deletion	KPNA5,frameshift_variant,p.Lys134IlefsTer3,ENST00000356348,;KPNA5,frameshift_variant,p.Lys134IlefsTer3,ENST00000368564,;KPNA5,frameshift_variant,p.Lys131IlefsTer3,ENST00000413340,;	548-549	82	39	SUCCESS
NOL7	51406	.	GRCh37	6	13618350	13618350	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	51	227	0	ENST00000451315.2:c.479T>C	p.Val160Ala	p.V160A	ENST00000451315	NM_016167.3	160	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4528.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTACAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32337	.	.	ENSP00000405674	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000451315	Transcript	.	.	ENSG00000225921	21040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.75)	.	NOL7_HUMAN	NOL7	HGNC	.	.	UPI000007196C	SNV	NOL7,missense_variant,p.Val160Ala,ENST00000451315,;AL441883.1,3_prime_UTR_variant,,ENST00000600057,;NOL7,3_prime_UTR_variant,,ENST00000420088,;RANBP9,downstream_gene_variant,,ENST00000011619,;RANBP9,downstream_gene_variant,,ENST00000539980,;SIRT5,downstream_gene_variant,,ENST00000606117,;RP1-223E5.4,upstream_gene_variant,,ENST00000566170,;NOL7,non_coding_transcript_exon_variant,,ENST00000474485,;RANBP9,downstream_gene_variant,,ENST00000469916,;	511	227	228	SUCCESS
TNXB	7148	.	GRCh37	6	32063403	32063403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1179436412	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	432	86	462	1	ENST00000375244.3:c.2227G>A	p.Glu743Lys	p.E743K	ENST00000375244		743	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	.	.	2227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCGCCAG	NONE	.	.	SMART_domains:SM00181,Gene3D:2gy5A03,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50026	.	.	ENSP00000364396	.	3/44	.	.	.	.	.	.	.	.	.	3/44	nonpreferredpair	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.564)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.Glu743Lys,ENST00000375247,;TNXB,missense_variant,p.Glu743Lys,ENST00000479795,;TNXB,missense_variant,p.Glu743Lys,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000442721,;ATF6B,downstream_gene_variant,,ENST00000494022,;TNXB,non_coding_transcript_exon_variant,,ENST00000486148,;	2429	463	519	SUCCESS
CDYL	9425	.	GRCh37	6	4935914	4935914	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	156	222	0	ENST00000328908.5:c.1019G>C	p.Arg340Thr	p.R340T	ENST00000328908		340	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS4491.2	857	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGATACA	NONE	.	.	hmmpanther:PTHR11941:SF11,hmmpanther:PTHR11941,Gene3D:3.90.226.10	.	.	ENSP00000380718	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.07)	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,missense_variant,p.Arg154Thr,ENST00000449732,;CDYL,missense_variant,p.Arg66Thr,ENST00000440139,;CDYL,missense_variant,p.Arg286Thr,ENST00000397588,;CDYL,missense_variant,p.Arg154Thr,ENST00000343762,;CDYL,missense_variant,p.Arg340Thr,ENST00000328908,;CDYL,non_coding_transcript_exon_variant,,ENST00000472453,;CDYL,non_coding_transcript_exon_variant,,ENST00000469671,;	1206	222	237	SUCCESS
LRRN3	54674	.	GRCh37	7	110764538	110764538	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	83	0	ENST00000308478.5:c.1711del	p.Ile571TyrfsTer13	p.I571Yfs*13	ENST00000308478	NM_001099658.1	570	cgA/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS5754.1	1710	VARSCANI*|PINDEL	.	TGCTCGAATACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF7,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000397312	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000451085	Transcript	.	.	ENSG00000173114	17200	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRN3_HUMAN	LRRN3	HGNC	A4D0T1_HUMAN,E7EW58_HUMAN	.	UPI0000037517	deletion	LRRN3,frameshift_variant,p.Ile571TyrfsTer13,ENST00000422987,;LRRN3,frameshift_variant,p.Ile571TyrfsTer13,ENST00000308478,;LRRN3,frameshift_variant,p.Ile571TyrfsTer13,ENST00000451085,;IMMP2L,intron_variant,,ENST00000450877,;IMMP2L,intron_variant,,ENST00000437687,;IMMP2L,intron_variant,,ENST00000415362,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000405709,;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000331762,;LRRN3,downstream_gene_variant,,ENST00000421101,;IMMP2L,intron_variant,,ENST00000489381,;	2756	83	86	SUCCESS
WASL	8976	.	GRCh37	7	123334793	123334793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	99	0	ENST00000223023.4:c.802G>A	p.Val268Ile	p.V268I	ENST00000223023	NM_003941.3	268	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS34743.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAACAGCTT	NONE	.	.	Superfamily_domains:0037032,Gene3D:3.90.810.10,hmmpanther:PTHR12779:SF3,hmmpanther:PTHR12779	.	.	ENSP00000223023	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000223023	Transcript	.	.	ENSG00000106299	12735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.12)	.	WASL_HUMAN	WASL	HGNC	.	.	UPI000013C821	SNV	WASL,missense_variant,p.Val268Ile,ENST00000223023,;	1135	99	89	SUCCESS
MLXIPL	51085	.	GRCh37	7	73013995	73013995	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146487355	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	41	0	ENST00000313375.3:c.932C>T	p.Pro311Leu	p.P311L	ENST00000313375	NM_032953.2	311	cCg/cTg	0	A:0.0002	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS5553.1	932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGGCTGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741,Low_complexity_(Seg):seg	A:0	A:0.0023	ENSP00000320886	A:0.002	8/17	.	.	.	.	.	.	.	.	rs146487355,COSM3950769	8/17	common_in_exac,nonpreferredpair	ENST00000313375	Transcript	.	A:0.0004	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.018)	A:0	tolerated(0.27)	0,1	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Pro311Leu,ENST00000313375,;MLXIPL,missense_variant,p.Pro218Leu,ENST00000434326,;MLXIPL,missense_variant,p.Pro218Leu,ENST00000395189,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000429400,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000354613,;MLXIPL,missense_variant,p.Pro144Leu,ENST00000453275,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000414749,;MLXIPL,missense_variant,p.Pro311Leu,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;MLXIPL,upstream_gene_variant,,ENST00000467221,;	980	41	74	SUCCESS
C7orf43	0	.	GRCh37	7	99754066	99754066	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	204	76	255	0	ENST00000316937.3:c.1183A>T	p.Asn395Tyr	p.N395Y	ENST00000316937	NM_018275.3	395	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5687.1	1183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATTGTTAA	NONE	.	.	hmmpanther:PTHR16096,hmmpanther:PTHR16096:SF7	.	.	ENSP00000324741	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000316937	Transcript	.	.	ENSG00000146826	25604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	CG043_HUMAN	C7orf43	HGNC	F8WFE0_HUMAN,C9JMZ9_HUMAN,B3KNS5_HUMAN	.	UPI000006ECC7	SNV	C7orf43,missense_variant,p.Asn301Tyr,ENST00000456769,;C7orf43,missense_variant,p.Asn163Tyr,ENST00000419841,;C7orf43,missense_variant,p.Asn126Tyr,ENST00000457641,;C7orf43,missense_variant,p.Asn395Tyr,ENST00000316937,;GAL3ST4,downstream_gene_variant,,ENST00000413800,;GAL3ST4,downstream_gene_variant,,ENST00000423751,;GAL3ST4,downstream_gene_variant,,ENST00000360039,;GAL3ST4,downstream_gene_variant,,ENST00000426974,;LAMTOR4,downstream_gene_variant,,ENST00000341942,;GAL3ST4,downstream_gene_variant,,ENST00000411994,;C7orf43,upstream_gene_variant,,ENST00000394035,;LAMTOR4,downstream_gene_variant,,ENST00000441173,;MIR4658,downstream_gene_variant,,ENST00000584344,;C7orf43,non_coding_transcript_exon_variant,,ENST00000498638,;LAMTOR4,downstream_gene_variant,,ENST00000474831,;LAMTOR4,downstream_gene_variant,,ENST00000460732,;C7orf43,downstream_gene_variant,,ENST00000472061,;LAMTOR4,downstream_gene_variant,,ENST00000468582,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;LAMTOR4,downstream_gene_variant,,ENST00000474141,;LAMTOR4,downstream_gene_variant,,ENST00000488241,;GAL3ST4,downstream_gene_variant,,ENST00000498000,;LAMTOR4,downstream_gene_variant,,ENST00000466498,;C7orf43,missense_variant,p.Asn129Tyr,ENST00000448720,;C7orf43,intron_variant,,ENST00000419037,;C7orf43,upstream_gene_variant,,ENST00000470260,;GAL3ST4,downstream_gene_variant,,ENST00000495882,;LAMTOR4,downstream_gene_variant,,ENST00000473459,;LAMTOR4,downstream_gene_variant,,ENST00000488338,;	1369	255	280	SUCCESS
SNTB1	6641	.	GRCh37	8	121824005	121824005	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	43	0	ENST00000395601.3:c.79G>T	p.Glu27Ter	p.E27*	ENST00000395601	NM_021021.3	27	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6334.1	79	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCCAGCA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11,SMART_domains:SM00233	.	.	ENSP00000378965	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000395601	Transcript	.	.	ENSG00000172164	11168	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNTB1_HUMAN	SNTB1	HGNC	E5RIX7_HUMAN	.	UPI0000135B20	SNV	SNTB1,stop_gained,p.Glu27Ter,ENST00000520717,;SNTB1,stop_gained,p.Glu27Ter,ENST00000395601,;SNTB1,stop_gained,p.Glu27Ter,ENST00000517992,;RP11-713M15.2,upstream_gene_variant,,ENST00000605955,;SNTB1,upstream_gene_variant,,ENST00000519177,;	494	43	43	SUCCESS
PTPLAD2	0	.	GRCh37	9	21008070	21008070	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	123	0	ENST00000495827.2:c.566C>T	p.Ser189Phe	p.S189F	ENST00000495827	NM_001010915.3	189	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS43791.1	566	RADIA|MUTECT|MUSE	.	AGATGGATAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF16,Pfam_domain:PF04387	.	.	ENSP00000419503	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000495827	Transcript	.	.	ENSG00000188921	20920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	HACD4_HUMAN	PTPLAD2	HGNC	.	.	UPI0000251F91	SNV	PTPLAD2,missense_variant,p.Ser189Phe,ENST00000495827,;PTPLAD2,missense_variant,p.Ser189Phe,ENST00000513293,;	612	123	73	SUCCESS
PTPLAD2	0	.	GRCh37	9	21008109	21008109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1177602541	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	122	0	ENST00000495827.2:c.527C>T	p.Ser176Leu	p.S176L	ENST00000495827	NM_001010915.3	176	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43791.1	527	RADIA|MUTECT|MUSE	.	CAAATGATTCA	NONE	.	.	hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF16,Pfam_domain:PF04387	.	.	ENSP00000419503	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000495827	Transcript	.	.	ENSG00000188921	20920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.059)	.	tolerated(0.07)	.	HACD4_HUMAN	PTPLAD2	HGNC	.	.	UPI0000251F91	SNV	PTPLAD2,missense_variant,p.Ser176Leu,ENST00000495827,;PTPLAD2,missense_variant,p.Ser176Leu,ENST00000513293,;	573	122	77	SUCCESS
FAM120A	23196	.	GRCh37	9	96233651	96233652	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	123	28	155	0	ENST00000277165.6:c.708dup	p.Ala237CysfsTer11	p.A237Cfs*11	ENST00000277165	NM_014612.3	235	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS6706.1	703-704	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTATTTTT	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14	.	.	ENSP00000277165	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000277165	Transcript	.	.	ENSG00000048828	13247	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F120A_HUMAN	FAM120A	HGNC	.	.	UPI0000211A83	insertion	FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000375389,;FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000340893,;FAM120A,frameshift_variant,p.Ala81CysfsTer11,ENST00000446420,;FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000333936,;FAM120A,frameshift_variant,p.Ala237CysfsTer11,ENST00000277165,;	897-898	155	151	SUCCESS
NXF3	56000	.	GRCh37	X	102334288	102334288	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs761308991	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	258	620	2	ENST00000395065.3:c.1334C>T	p.Thr445Met	p.T445M	ENST00000395065	NM_022052.1	445	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14503.1	1334	RADIA|SOMATICSNIPER|VARSCANS	.	TCACCGTCTGG	NONE	byFrequency	.	PROSITE_profiles:PS50177,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	15/20	.	.	.	.	.	.	.	.	rs761308991	15/20	nonpreferredpair	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.705)	.	tolerated(0.08)	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Thr445Met,ENST00000395065,;NXF3,missense_variant,p.Thr322Met,ENST00000427570,;NXF3,missense_variant,p.Thr117Met,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,splice_region_variant,,ENST00000497850,;NXF3,splice_region_variant,,ENST00000468528,;NXF3,splice_region_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000460791,;	1436	622	416	SUCCESS
ZMYM3	9203	.	GRCh37	X	70464153	70464153	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs369984340	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	76	0	ENST00000314425.5:c.3279C>T		p.X1093_splice	ENST00000314425	NM_201599.2	1093	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS14409.1	3279	MUTECT|MUSE	.	TTACGGCCAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF32	.	.	ENSP00000343909	.	20/25	.	.	.	.	.	.	.	.	rs369984340	20/25	nonpreferredpair	ENST00000353904	Transcript	.	.	ENSG00000147130	13054	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZMYM3_HUMAN	ZMYM3	HGNC	.	.	UPI000013C339	SNV	ZMYM3,synonymous_variant,p.%3D,ENST00000373988,;ZMYM3,synonymous_variant,p.%3D,ENST00000314425,;ZMYM3,synonymous_variant,p.%3D,ENST00000373998,;ZMYM3,synonymous_variant,p.%3D,ENST00000353904,;ZMYM3,intron_variant,,ENST00000373984,;ZMYM3,downstream_gene_variant,,ENST00000373982,;ZMYM3,downstream_gene_variant,,ENST00000373978,;ZMYM3,downstream_gene_variant,,ENST00000373981,;ZMYM3,splice_region_variant,,ENST00000470832,;ZMYM3,intron_variant,,ENST00000489332,;	3467	76	73	SUCCESS
TACC2	10579	.	GRCh37	10	123844727	123844727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	31	129	0	ENST00000334433.3:c.2712G>T	p.Gln904His	p.Q904H	ENST00000334433		904	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7626.1	2712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGCTCCC	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Gln904His,ENST00000369005,;TACC2,missense_variant,p.Gln904His,ENST00000453444,;TACC2,missense_variant,p.Gln904His,ENST00000334433,;TACC2,missense_variant,p.Gln904His,ENST00000515603,;TACC2,missense_variant,p.Gln904His,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	3052	129	171	SUCCESS
OAT	4942	.	GRCh37	10	126089485	126089485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	27	106	0	ENST00000368845.5:c.1083G>A	p.Met361Ile	p.M361I	ENST00000368845	NM_000274.3	361	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7639.1	1083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTCATGAG	NONE	.	.	hmmpanther:PTHR11986:SF18,hmmpanther:PTHR11986,Gene3D:3.90.1150.10,Pfam_domain:PF00202,TIGRFAM_domain:TIGR01885,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000357838	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000368845	Transcript	1	.	ENSG00000065154	8091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	tolerated(0.11)	.	OAT_HUMAN	OAT	HGNC	.	.	UPI0000000C1B	SNV	OAT,missense_variant,p.Met223Ile,ENST00000539214,;OAT,missense_variant,p.Met361Ile,ENST00000368845,;OAT,non_coding_transcript_exon_variant,,ENST00000471127,;OAT,downstream_gene_variant,,ENST00000483711,;OAT,downstream_gene_variant,,ENST00000467675,;	1176	106	126	SUCCESS
TTC40	0	.	GRCh37	10	134731941	134731941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	45	188	0	ENST00000368586.5:c.1942G>T	p.Asp648Tyr	p.D648Y	ENST00000368586	NM_001200049.2	648	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS58101.1	1942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCGGGGC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	16/58	.	.	.	.	.	.	.	.	.	16/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.05)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Asp648Tyr,ENST00000368582,;TTC40,missense_variant,p.Asp648Tyr,ENST00000368586,;TTC40,upstream_gene_variant,,ENST00000486104,;	2043	188	187	SUCCESS
GPRIN2	9721	.	GRCh37	10	46999762	46999762	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	312	21	282	0	ENST00000374314.4:c.882C>T	p.Ala294=	p.A294=	ENST00000374314		294	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31192.1	882	MUTECT|MUSE	.	TGTGCCCACCT	NONE	.	.	hmmpanther:PTHR15718	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,synonymous_variant,p.%3D,ENST00000374314,;GPRIN2,synonymous_variant,p.%3D,ENST00000374317,;	1837	282	334	SUCCESS
TMEM218	219854	.	GRCh37	11	124971201	124971201	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	37	0	ENST00000279968.4:c.111-2A>T		p.X37_splice	ENST00000279968		37		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31715.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTGGGGT	NONE	.	.	.	.	.	ENSP00000399803	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000455225	Transcript	.	.	ENSG00000150433	27344	.	.	HIGH	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM218_HUMAN	TMEM218	HGNC	E9PQM6_HUMAN,E9PL96_HUMAN	.	UPI00001617A4	SNV	TMEM218,splice_acceptor_variant,,ENST00000524373,;TMEM218,splice_acceptor_variant,,ENST00000529530,;TMEM218,splice_acceptor_variant,,ENST00000455225,;TMEM218,splice_acceptor_variant,,ENST00000528724,;TMEM218,splice_acceptor_variant,,ENST00000533273,;TMEM218,splice_acceptor_variant,,ENST00000527271,;TMEM218,splice_acceptor_variant,,ENST00000526175,;TMEM218,splice_acceptor_variant,,ENST00000279968,;TMEM218,splice_acceptor_variant,,ENST00000532407,;TMEM218,splice_acceptor_variant,,ENST00000531909,;TMEM218,splice_acceptor_variant,,ENST00000529583,;TMEM218,splice_acceptor_variant,,ENST00000527766,;TMEM218,intron_variant,,ENST00000532156,;TMEM218,intron_variant,,ENST00000529609,;TMEM218,splice_acceptor_variant,,ENST00000531262,;TMEM218,splice_acceptor_variant,,ENST00000531851,;TMEM218,non_coding_transcript_exon_variant,,ENST00000527257,;TMEM218,downstream_gene_variant,,ENST00000532717,;	.	37	30	SUCCESS
SYVN1	84447	.	GRCh37	11	64900425	64900425	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	138	0	ENST00000377190.3:c.346T>G	p.Phe116Val	p.F116V	ENST00000377190	NM_172230.2	116	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS31605.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAAACATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF69	.	.	ENSP00000366395	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000377190	Transcript	.	.	ENSG00000162298	20738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	SYVN1_HUMAN	SYVN1	HGNC	E9PMA1_HUMAN	.	UPI000004EE90	SNV	SYVN1,missense_variant,p.Phe116Val,ENST00000307289,;SYVN1,missense_variant,p.Phe56Val,ENST00000531018,;SYVN1,missense_variant,p.Phe101Val,ENST00000528487,;SYVN1,missense_variant,p.Phe116Val,ENST00000377190,;SYVN1,missense_variant,p.Phe116Val,ENST00000526060,;SYVN1,missense_variant,p.Phe116Val,ENST00000294256,;SYVN1,upstream_gene_variant,,ENST00000527765,;SYVN1,upstream_gene_variant,,ENST00000526121,;SYVN1,missense_variant,p.Phe116Val,ENST00000527142,;SYVN1,missense_variant,p.Phe99Val,ENST00000532771,;SYVN1,non_coding_transcript_exon_variant,,ENST00000533685,;SYVN1,non_coding_transcript_exon_variant,,ENST00000525874,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,non_coding_transcript_exon_variant,,ENST00000529207,;SYVN1,upstream_gene_variant,,ENST00000530451,;	441	138	161	SUCCESS
C11orf73	0	.	GRCh37	11	86048470	86048470	+	synonymous_variant	Silent	SNP	A	A	G	rs376891384	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	31	121	0	ENST00000278483.3:c.318A>G	p.Pro106=	p.P106=	ENST00000278483	NM_016401.3	106	ccA/ccG	0	G:0.0005	.	.	.	.	G	P	protein_coding	YES	CCDS8275.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCATCTGT	NONE	.	.	hmmpanther:PTHR12925:SF0,hmmpanther:PTHR12925,Pfam_domain:PF05603	.	G:0	ENSP00000278483	.	3/5	.	.	.	.	.	.	.	.	rs376891384	3/5	PASS	ENST00000278483	Transcript	.	.	ENSG00000149196	26938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIKES_HUMAN	C11orf73	HGNC	.	.	UPI000006CF46	SNV	C11orf73,synonymous_variant,p.%3D,ENST00000278483,;C11orf73,synonymous_variant,p.%3D,ENST00000533986,;C11orf73,non_coding_transcript_exon_variant,,ENST00000530208,;C11orf73,non_coding_transcript_exon_variant,,ENST00000532270,;C11orf73,non_coding_transcript_exon_variant,,ENST00000531485,;C11orf73,3_prime_UTR_variant,,ENST00000528004,;	544	121	140	SUCCESS
ANO4	121601	.	GRCh37	12	101490394	101490394	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1007246830	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	20	116	0	ENST00000392977.3:c.1819T>A	p.Ser607Thr	p.S607T	ENST00000392977	NM_001286615.1	607	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31884.1	1714	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTCCACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547	.	.	ENSP00000376705	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.752)	.	deleterious(0.03)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Ser127Thr,ENST00000550015,;ANO4,missense_variant,p.Ser127Thr,ENST00000299222,;ANO4,missense_variant,p.Ser607Thr,ENST00000392977,;ANO4,missense_variant,p.Ser572Thr,ENST00000392979,;	2075	116	150	SUCCESS
TMTC1	83857	.	GRCh37	12	29920979	29920979	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	72	0	ENST00000539277.1:c.332C>T	p.Pro111Leu	p.P111L	ENST00000539277	NM_001193451.1	111	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS53772.1	332	RADIA|MUSE|VARSCANS	.	AGAATGGGTTC	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF353	.	.	ENSP00000442046	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000539277	Transcript	.	.	ENSG00000133687	24099	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	TMTC1_HUMAN	TMTC1	HGNC	B3KVW1_HUMAN	.	UPI0001DD37FA	SNV	TMTC1,missense_variant,p.Pro3Leu,ENST00000256062,;TMTC1,missense_variant,p.Pro3Leu,ENST00000381224,;TMTC1,missense_variant,p.Pro111Leu,ENST00000551659,;TMTC1,missense_variant,p.Pro111Leu,ENST00000539277,;TMTC1,missense_variant,p.Pro111Leu,ENST00000552618,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	391	72	74	SUCCESS
DTX3	196403	.	GRCh37	12	58001298	58001298	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745554527	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	314	59	224	0	ENST00000337737.3:c.652C>T	p.Arg218Trp	p.R218W	ENST00000337737	NM_178502.2	218	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS41800.1	652	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCGGATG	NONE	byFrequency	.	hmmpanther:PTHR12622	.	.	ENSP00000447873	.	3/5	.	.	.	.	.	.	.	.	rs745554527	3/5	PASS	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.872)	.	deleterious(0.02)	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,missense_variant,p.Arg218Trp,ENST00000337737,;DTX3,missense_variant,p.Arg218Trp,ENST00000548804,;DTX3,missense_variant,p.Arg218Trp,ENST00000548198,;DTX3,missense_variant,p.Arg6Trp,ENST00000550300,;DTX3,missense_variant,p.Arg221Trp,ENST00000551632,;DTX3,downstream_gene_variant,,ENST00000549583,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000548478,;DTX3,downstream_gene_variant,,ENST00000550596,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;PIP4K2C,downstream_gene_variant,,ENST00000540759,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;	2156	224	373	SUCCESS
RNASE4	6038	.	GRCh37	14	21167843	21167844	+	protein_altering_variant	In_Frame_Ins	INS	-	-	ATC	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	42	0	ENST00000397995.2:c.314_315insTCA	p.Lys105delinsAsnGln	p.K105delinsNQ	ENST00000397995		105	aag/aATCag	0	.	.	.	.	.	ATC	K/NQ	protein_coding	YES	CCDS9555.1	313-314	VARSCANI*|PINDEL	.	TAGTGAAGGTC	NONE	.	.	Prints_domain:PR00794,Superfamily_domains:SSF54076,SMART_domains:SM00092,Gene3D:3.10.130.10,Pfam_domain:PF00074,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF10	.	.	ENSP00000452245	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000555835	Transcript	.	.	ENSG00000258818	10047	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RNAS4_HUMAN	RNASE4	HGNC	Q53XB4_HUMAN	.	UPI000000CBC2	insertion	RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000304704,;RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000555597,;RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000397995,;RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000555835,;AL163636.6,3_prime_UTR_variant,,ENST00000553909,;RP11-903H12.3,intron_variant,,ENST00000554286,;ANG,downstream_gene_variant,,ENST00000554073,;	989-990	42	27	SUCCESS
DUOX2	50506	.	GRCh37	15	45391660	45391660	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757212555	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	74	0	ENST00000603300.1:c.3436G>A	p.Ala1146Thr	p.A1146T	ENST00000603300	NM_014080.4	1146	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10117.1	3436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCGTGGC	NONE	.	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Pfam_domain:PF01794	.	.	ENSP00000475084	.	26/34	.	.	.	.	.	.	.	.	rs757212555	26/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.12)	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.Ala1146Thr,ENST00000389039,;DUOX2,missense_variant,p.Ala1146Thr,ENST00000603300,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,downstream_gene_variant,,ENST00000560797,;DUOX2,downstream_gene_variant,,ENST00000558416,;	3639	74	83	SUCCESS
TSC2	7249	.	GRCh37	16	2134406	2134406	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs886041772	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	76	0	ENST00000219476.3:c.4183C>T	p.Gln1395Ter	p.Q1395*	ENST00000219476	NM_000548.3	1395	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10458.1	4183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCAGGAC	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	.	.	ENSP00000219476	.	34/42	.	.	.	.	.	.	.	.	.	34/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Gln1292Ter,ENST00000439673,;TSC2,stop_gained,p.Gln1395Ter,ENST00000219476,;TSC2,stop_gained,p.Gln1339Ter,ENST00000568454,;TSC2,stop_gained,p.Gln123Ter,ENST00000569110,;TSC2,stop_gained,p.Gln1328Ter,ENST00000401874,;TSC2,stop_gained,p.Gln1352Ter,ENST00000353929,;TSC2,stop_gained,p.Gln1372Ter,ENST00000350773,;TSC2,stop_gained,p.Gln1280Ter,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;TSC2,downstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000483020,;TSC2,downstream_gene_variant,,ENST00000561695,;TSC2,downstream_gene_variant,,ENST00000471143,;	4813	76	47	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29889651	29889651	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1161019964	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	109	0	ENST00000308713.5:c.1669G>A	p.Val557Met	p.V557M	ENST00000308713	NM_001114099.2	557	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS10659.1	1669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACGCCCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000312550	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	deleterious(0.02)	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Val162Met,ENST00000563118,;SEZ6L2,missense_variant,p.Val557Met,ENST00000308713,;SEZ6L2,missense_variant,p.Val487Met,ENST00000350527,;SEZ6L2,missense_variant,p.Val443Met,ENST00000346932,;SEZ6L2,missense_variant,p.Val513Met,ENST00000537485,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;	2197	109	113	SUCCESS
SLC6A10P	386757	.	GRCh37	16	32894016	32894016	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	364	121	479	0	ENST00000330048.5:n.1242C>G		p.*414*	ENST00000330048				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGACCAG	NONE	.	3531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398669	Transcript	.	.	ENSG00000214614	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-989E6.3	Clone_based_vega_gene	.	.	.	SNV	RP11-989E6.3,upstream_gene_variant,,ENST00000562241,;RP11-989E6.3,upstream_gene_variant,,ENST00000398669,;RP11-989E6.3,upstream_gene_variant,,ENST00000566260,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000330048,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000561837,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000431994,;	.	479	485	SUCCESS
RBL2	5934	.	GRCh37	16	53524210	53524210	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	103	0	ENST00000262133.6:c.3418T>C	p.Ter1140ArgextTer2	p.*1140Rext*2	ENST00000262133	NM_005611.3	1140	Tga/Cga	0	.	.	.	.	.	C	*/R	protein_coding	YES	CCDS10748.1	3418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTGAGGT	NONE	.	.	.	.	.	ENSP00000262133	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,stop_lost,p.Ter519ArgextTer2,ENST00000544545,;RBL2,stop_lost,p.Ter1140ArgextTer2,ENST00000262133,;AKTIP,downstream_gene_variant,,ENST00000565408,;AKTIP,downstream_gene_variant,,ENST00000563928,;AKTIP,downstream_gene_variant,,ENST00000568022,;AKTIP,downstream_gene_variant,,ENST00000300245,;AKTIP,downstream_gene_variant,,ENST00000568596,;AKTIP,downstream_gene_variant,,ENST00000394657,;AKTIP,downstream_gene_variant,,ENST00000570004,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;AKTIP,downstream_gene_variant,,ENST00000563108,;AKTIP,downstream_gene_variant,,ENST00000561799,;AKTIP,downstream_gene_variant,,ENST00000566045,;AKTIP,downstream_gene_variant,,ENST00000571523,;AKTIP,downstream_gene_variant,,ENST00000565431,;	3555	103	96	SUCCESS
STAT5B	6777	.	GRCh37	17	40384099	40384100	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	219	44	180	0	ENST00000293328.3:c.46dup	p.His16ProfsTer14	p.H16Pfs*14	ENST00000293328	NM_012448.3	16	cat/cCat	0	.	.	.	.	.	G	H/PX	protein_coding	YES	CCDS11423.1	46-47	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGATGAAGG	NONE	.	.	hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Gene3D:1bgfA00,Pfam_domain:PF02865,SMART_domains:SM00964,Superfamily_domains:0035539	.	.	ENSP00000293328	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000293328	Transcript	.	.	ENSG00000173757	11367	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STA5B_HUMAN	STAT5B	HGNC	C9J4I3_HUMAN	.	UPI000006F059	insertion	STAT5B,frameshift_variant,p.His16ProfsTer14,ENST00000415845,;STAT5B,frameshift_variant,p.His16ProfsTer14,ENST00000293328,;STAT5B,non_coding_transcript_exon_variant,,ENST00000468312,;	215-216	180	263	SUCCESS
PGS1	9489	.	GRCh37	17	76395500	76395500	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	44	85	0	ENST00000262764.6:c.585del	p.His196ThrfsTer37	p.H196Tfs*37	ENST00000262764	NM_024419.3	195	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS42391.1	583	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCTCTTTCAC	NONE	.	.	hmmpanther:PTHR12586:SF1,hmmpanther:PTHR12586,Pfam_domain:PF13091,Gene3D:3.30.870.10,PIRSF_domain:PIRSF000850,Superfamily_domains:SSF56024	.	.	ENSP00000262764	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000262764	Transcript	.	.	ENSG00000087157	30029	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGPS1_HUMAN	PGS1	HGNC	.	.	UPI00000435E5	deletion	PGS1,frameshift_variant,p.His180ThrfsTer37,ENST00000587356,;PGS1,frameshift_variant,p.His61ThrfsTer37,ENST00000329897,;PGS1,frameshift_variant,p.His195ThrfsTer37,ENST00000592043,;PGS1,frameshift_variant,p.His196ThrfsTer37,ENST00000262764,;PGS1,frameshift_variant,p.His170ThrfsTer37,ENST00000589689,;PGS1,upstream_gene_variant,,ENST00000586355,;PGS1,upstream_gene_variant,,ENST00000586019,;SNORA30,upstream_gene_variant,,ENST00000363193,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,intron_variant,,ENST00000585521,;PGS1,downstream_gene_variant,,ENST00000586325,;PGS1,frameshift_variant,p.His170ThrfsTer37,ENST00000589426,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,3_prime_UTR_variant,,ENST00000588169,;PGS1,upstream_gene_variant,,ENST00000591996,;PGS1,downstream_gene_variant,,ENST00000586510,;	609	85	169	SUCCESS
SMAD7	4092	.	GRCh37	18	46448256	46448256	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376228389	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	40	0	ENST00000262158.2:c.767G>A	p.Gly256Glu	p.G256E	ENST00000262158	NM_001190821.1	256	gGg/gAg	0	T:0.0002	.	.	.	.	T	G/E	protein_coding	YES	CCDS11936.1	767	MUTECT|MUSE	.	GATCCCCAGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Superfamily_domains:SSF49879	.	T:0	ENSP00000262158	.	4/4	.	.	.	.	.	.	.	.	rs376228389	4/4	PASS	ENST00000262158	Transcript	.	.	ENSG00000101665	6773	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.25)	.	tolerated(0.08)	.	SMAD7_HUMAN	SMAD7	HGNC	K7EKF0_HUMAN	.	UPI0000135A83	SNV	SMAD7,missense_variant,p.Gly41Glu,ENST00000591805,;SMAD7,missense_variant,p.Gly41Glu,ENST00000586093,;SMAD7,missense_variant,p.Gly256Glu,ENST00000262158,;SMAD7,missense_variant,p.Gly255Glu,ENST00000589634,;SMAD7,non_coding_transcript_exon_variant,,ENST00000585986,;SMAD7,non_coding_transcript_exon_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,;	1054	40	50	SUCCESS
OR10H1	26539	.	GRCh37	19	15917988	15917988	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	48	276	0	ENST00000334920.2:c.860G>A	p.Ser287Asn	p.S287N	ENST00000334920	NM_013940.2	287	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS12335.1	860	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCTGAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000335596	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334920	Transcript	.	.	ENSG00000186723	8172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.99)	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,missense_variant,p.Ser287Asn,ENST00000334920,;	949	276	274	SUCCESS
PPAP2C	0	.	GRCh37	19	288111	288111	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	33	214	0	ENST00000434325.2:c.-56G>A		p.*19*	ENST00000434325		59		0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS12024.1	176	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCAGTAA	NONE	.	.	hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000329697	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,missense_variant,p.Cys59Tyr,ENST00000327790,;PPAP2C,missense_variant,p.Cys38Tyr,ENST00000269812,;PPAP2C,missense_variant,p.Cys44Tyr,ENST00000591572,;PPAP2C,5_prime_UTR_variant,,ENST00000434325,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,non_coding_transcript_exon_variant,,ENST00000589672,;	280	214	237	SUCCESS
ZNF529	57711	.	GRCh37	19	37045633	37045633	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	130	0	ENST00000591340.1:c.174T>C	p.Ser58=	p.S58=	ENST00000591340	NM_020951.4	58	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS54256.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAGAATC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF123,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000465578	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000591340	Transcript	.	.	ENSG00000186020	29328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN529_HUMAN	ZNF529	HGNC	K7ESA1_HUMAN,K7ELR0_HUMAN,K7EKM0_HUMAN	.	UPI00002021C4	SNV	ZNF529,synonymous_variant,p.%3D,ENST00000591340,;ZNF529,synonymous_variant,p.%3D,ENST00000585960,;ZNF529,synonymous_variant,p.%3D,ENST00000585983,;ZNF529,5_prime_UTR_variant,,ENST00000586115,;ZNF529,5_prime_UTR_variant,,ENST00000334116,;	333	130	128	SUCCESS
ZNF780B	163131	.	GRCh37	19	40540905	40540905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	23	122	0	ENST00000434248.1:c.1861G>A	p.Ala621Thr	p.A621T	ENST00000434248	NM_001005851.2	621	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46077.1	1861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCCTTGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF203,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000391641	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434248	Transcript	.	.	ENSG00000128000	33109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	tolerated(0.34)	.	Z780B_HUMAN	ZNF780B	HGNC	M0R0W9_HUMAN,C9JTJ1_HUMAN	.	UPI000007137F	SNV	ZNF780B,missense_variant,p.Ala621Thr,ENST00000434248,;ZNF780B,missense_variant,p.Ala473Thr,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;	1927	122	129	SUCCESS
KIR2DL3	3804	.	GRCh37	19	55253690	55253690	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	34	0	ENST00000342376.3:c.335C>G	p.Ser112Ter	p.S112*	ENST00000342376	NM_015868.2	112	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS33107.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCAGCTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000342215	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342376	Transcript	.	.	ENSG00000243772	6331	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI2L3_HUMAN	KIR2DL3	HGNC	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN	.	UPI000012DB1C	SNV	KIR2DL3,stop_gained,p.Ser112Ter,ENST00000342376,;KIR2DL3,stop_gained,p.Ser112Ter,ENST00000434419,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;CTB-61M7.1,intron_variant,,ENST00000400864,;	366	34	36	SUCCESS
NLRP7	199713	.	GRCh37	19	55450802	55450802	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146205567	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	26	145	0	ENST00000340844.2:c.1385G>A	p.Gly462Asp	p.G462D	ENST00000340844	NM_206828.3	462	gGc/gAc	0	A:0.0011	.	.	.	.	T	G/D	protein_coding	YES	CCDS46183.1	1385	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCTTTG	NONE	byCluster	.	hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106	.	A:0	ENSP00000467123	.	6/13	.	.	.	.	.	.	.	.	rs146205567	6/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.28)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Gly462Asp,ENST00000590030,;NLRP7,missense_variant,p.Gly490Asp,ENST00000446217,;NLRP7,missense_variant,p.Gly462Asp,ENST00000588756,;NLRP7,missense_variant,p.Gly462Asp,ENST00000448121,;NLRP7,missense_variant,p.Gly462Asp,ENST00000328092,;NLRP7,missense_variant,p.Gly462Asp,ENST00000592784,;NLRP7,missense_variant,p.Gly462Asp,ENST00000340844,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Gly462Asp,ENST00000586379,;	1872	145	180	SUCCESS
SPAG17	200162	.	GRCh37	1	118635840	118635840	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs745689634	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	11	104	0	ENST00000336338.5:c.1112T>A	p.Leu371His	p.L371H	ENST00000336338	NM_206996.2	371	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS899.1	1112	MUTECT|MUSE	.	TAATAAGCTGC	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	8/49	.	.	.	.	.	.	.	.	rs745689634	8/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Leu371His,ENST00000336338,;	1178	104	159	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145273364	145273364	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3139	146	2418	0	ENST00000369340.3:c.218C>G	p.Ser73Cys	p.S73C	ENST00000369340		73	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS909.1	218	MUTECT|MUSE	.	TGTGTCTCGAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF43,hmmpanther:PTHR24033,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000358346	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,missense_variant,p.Ser73Cys,ENST00000369340,;NOTCH2NL,missense_variant,p.Ser73Cys,ENST00000362074,;NOTCH2NL,missense_variant,p.Ser73Cys,ENST00000344859,;RP11-458D21.5,missense_variant,p.Ser73Cys,ENST00000468030,;	662	2418	3286	SUCCESS
FLG	2312	.	GRCh37	1	152277553	152277553	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147429418	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	429	60	258	1	ENST00000368799.1:c.9809G>A	p.Arg3270His	p.R3270H	ENST00000368799	NM_002016.1	3270	cGc/cAc	0	T:0.0005	T:0.0008	.	T:0	.	T	R/H	protein_coding	YES	CCDS30860.1	9809	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCGGTCT	NONE	byFrequency|byCluster|by1000G	.	.	T:0.0208	T:0.0001	ENSP00000357789	T:0	3/3	.	.	.	.	.	.	.	.	rs147429418	3/3	common_in_exac	ENST00000368799	Transcript	.	T:0.0046	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	T:0.001	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Arg3270His,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	9845	259	489	SUCCESS
KIF21B	23046	.	GRCh37	1	200959773	200959773	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	15	80	0	ENST00000422435.2:c.2766G>T	p.Arg922=	p.R922=	ENST00000422435	NM_001252100.1	922	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS58056.1	2766	RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCCGTCG	NONE	.	.	hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115	.	.	ENSP00000411831	.	19/35	.	.	.	.	.	.	.	.	.	19/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,synonymous_variant,p.%3D,ENST00000422435,;KIF21B,synonymous_variant,p.%3D,ENST00000360529,;KIF21B,synonymous_variant,p.%3D,ENST00000461742,;KIF21B,synonymous_variant,p.%3D,ENST00000332129,;	3083	80	159	SUCCESS
C1QA	712	.	GRCh37	1	22965369	22965369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	56	0	ENST00000374642.3:c.207C>A	p.Asp69Glu	p.D69E	ENST00000374642	NM_015991.2	69	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS226.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACCAGGG	NONE	.	.	hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF79,Pfam_domain:PF01391	.	.	ENSP00000363773	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374642	Transcript	.	.	ENSG00000173372	1241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.3)	.	C1QA_HUMAN	C1QA	HGNC	.	.	UPI00000012E3	SNV	C1QA,missense_variant,p.Asp69Glu,ENST00000402322,;C1QA,missense_variant,p.Asp69Glu,ENST00000374642,;C1QA,missense_variant,p.Asp69Glu,ENST00000438241,;C1QC,upstream_gene_variant,,ENST00000374640,;C1QC,upstream_gene_variant,,ENST00000374637,;C1QC,upstream_gene_variant,,ENST00000374639,;	411	56	54	SUCCESS
AKT3	10000	.	GRCh37	1	243800994	243800994	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	28	0	ENST00000263826.5:c.480del	p.Val162LeufsTer15	p.V162Lfs*15	ENST00000263826	NM_005465.4	160	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS31077.1	480	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTTTCCCAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF29,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000355497	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000366539	Transcript	.	.	ENSG00000117020	393	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKT3_HUMAN	AKT3	HGNC	F8VS91_HUMAN	.	UPI00000335E8	deletion	AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000263826,;AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000366539,;AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000336199,;AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000366540,;	681	28	75	SUCCESS
RNF11	26994	.	GRCh37	1	51702468	51702468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	37	190	0	ENST00000242719.3:c.40T>A	p.Ser14Thr	p.S14T	ENST00000242719	NM_014372.4	14	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS556.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTCCCTG	NONE	.	.	hmmpanther:PTHR22764,hmmpanther:PTHR22764:SF54	.	.	ENSP00000242719	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000242719	Transcript	.	.	ENSG00000123091	10056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.17)	.	RNF11_HUMAN	RNF11	HGNC	.	.	UPI000000DC27	SNV	RNF11,missense_variant,p.Ser14Thr,ENST00000242719,;RP11-296A18.3,upstream_gene_variant,,ENST00000366181,;RNF11,non_coding_transcript_exon_variant,,ENST00000494873,;	526	190	181	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42143124	42143124	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	89	0	ENST00000427442.2:c.295-151G>A		p.*99*	ENST00000427442				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46602.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGTAGCT	NONE	.	.	.	.	.	ENSP00000402107	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	.	.	MODIFIER	3/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	SNV	L3MBTL1,5_prime_UTR_variant,,ENST00000444063,;L3MBTL1,5_prime_UTR_variant,,ENST00000373135,;L3MBTL1,intron_variant,,ENST00000439769,;L3MBTL1,intron_variant,,ENST00000434666,;L3MBTL1,intron_variant,,ENST00000427442,;L3MBTL1,intron_variant,,ENST00000418998,;L3MBTL1,upstream_gene_variant,,ENST00000373134,;L3MBTL1,upstream_gene_variant,,ENST00000473981,;L3MBTL1,upstream_gene_variant,,ENST00000457824,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000468336,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000473289,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000430781,;	.	89	79	SUCCESS
ADNP	23394	.	GRCh37	20	49508933	49508934	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	168	41	164	0	ENST00000349014.3:c.2317_2318del	p.Lys773ValfsTer14	p.K773Vfs*14	ENST00000349014	NM_001282532.1	773	AAg/g	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS13433.1	2317-2318	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATACTTTGTTA	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740,PROSITE_profiles:PS50071	.	.	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	deletion	ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000396032,;ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000396029,;ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000349014,;ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	2885-2886	164	209	SUCCESS
HRH3	11255	.	GRCh37	20	60791450	60791450	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200015061	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	30	0	ENST00000340177.5:c.950C>T	p.Pro317Leu	p.P317L	ENST00000340177	NM_007232.2	317	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS13493.1	950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGGCCTC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF242,hmmpanther:PTHR24249,Pfam_domain:PF00001	A:0	.	ENSP00000342560	A:0.001	3/3	.	.	.	.	.	.	.	.	rs200015061	3/3	PASS	ENST00000340177	Transcript	.	A:0.0002	ENSG00000101180	5184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	A:0	deleterious(0.03)	.	HRH3_HUMAN	HRH3	HGNC	.	.	UPI000012C6ED	SNV	HRH3,missense_variant,p.Pro317Leu,ENST00000317393,;HRH3,missense_variant,p.Pro317Leu,ENST00000340177,;	1235	30	23	SUCCESS
LAMA5	3911	.	GRCh37	20	60887087	60887087	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772698717	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	55	0	ENST00000252999.3:c.9524C>T	p.Ser3175Phe	p.S3175F	ENST00000252999	NM_005560.4	3175	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS33502.1	9524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGACACC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000252999	.	70/80	.	.	.	.	.	.	.	.	rs772698717	70/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Ser3175Phe,ENST00000252999,;ADRM1,downstream_gene_variant,,ENST00000253003,;LAMA5,upstream_gene_variant,,ENST00000492698,;LAMA5,missense_variant,p.Ser340Phe,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000462415,;LAMA5,non_coding_transcript_exon_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000468786,;LAMA5,downstream_gene_variant,,ENST00000471042,;	9591	55	54	SUCCESS
MYT1	4661	.	GRCh37	20	62850235	62850235	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	92	1	ENST00000328439.1:c.1847-29T>C		p.*616*	ENST00000328439	NM_004535.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13558.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGTTATGTGAG	NONE	.	.	.	.	.	ENSP00000327465	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODIFIER	11/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,synonymous_variant,p.%3D,ENST00000536311,;MYT1,intron_variant,,ENST00000360149,;MYT1,intron_variant,,ENST00000328439,;	.	93	79	SUCCESS
TTN	7273	.	GRCh37	2	179576711	179576711	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs182355009	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	27	189	1	ENST00000591111.1:c.26895C>G	p.Ser8965Arg	p.S8965R	ENST00000591111		8965	agC/agG	0	.	A:0	.	A:0.0043	.	C	S/R	protein_coding	YES	CCDS59435.1	27846	RADIA|VARSCANS	likely_benign	CCCACGCTGTT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0	.	ENSP00000467141	A:0	96/363	.	.	.	.	.	.	.	.	rs182355009	96/363	PASS	ENST00000589042	Transcript	.	A:0.0006	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	.	A:0	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser8038Arg,ENST00000342992,;TTN,missense_variant,p.Ser9282Arg,ENST00000589042,;TTN,missense_variant,p.Ser8965Arg,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	28071	190	200	SUCCESS
DNAH7	56171	.	GRCh37	2	196740508	196740508	+	synonymous_variant	Silent	SNP	G	G	T	rs1481811478	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	38	174	0	ENST00000312428.6:c.6177C>A	p.Pro2059=	p.P2059=	ENST00000312428	NM_018897.2	2059	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42794.1	6177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGGGAGG	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	38/65	.	.	.	.	.	.	.	.	.	38/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;	6278	174	183	SUCCESS
SNED1	25992	.	GRCh37	2	242004719	242004719	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	14	72	0	ENST00000310397.8:c.2718C>T	p.Leu906=	p.L906=	ENST00000310397	NM_001080437.1	906	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46562.1	2718	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCTTCCC	NONE	.	.	hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,SMART_domains:SM00060	.	.	ENSP00000308893	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,synonymous_variant,p.%3D,ENST00000405547,;SNED1,synonymous_variant,p.%3D,ENST00000342631,;SNED1,synonymous_variant,p.%3D,ENST00000310397,;SNED1,synonymous_variant,p.%3D,ENST00000401884,;AC005237.4,upstream_gene_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000466618,;	2718	72	98	SUCCESS
IGSF10	285313	.	GRCh37	3	151166486	151166486	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	58	0	ENST00000282466.3:c.1283G>T	p.Trp428Leu	p.W428L	ENST00000282466	NM_178822.4	428	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS3160.1	1283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACCAAGAG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29	.	.	ENSP00000282466	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Trp428Leu,ENST00000282466,;	1283	58	75	SUCCESS
ALG3	10195	.	GRCh37	3	183960448	183960448	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	28	182	0	ENST00000397676.3:c.1171C>T	p.Leu391Phe	p.L391F	ENST00000397676	NM_005787.5	391	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS46968.1	1171	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12646:SF0,hmmpanther:PTHR12646,Pfam_domain:PF05208	.	.	ENSP00000380793	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000397676	Transcript	.	.	ENSG00000214160	23056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	ALG3_HUMAN	ALG3	HGNC	.	.	UPI0000125838	SNV	ALG3,missense_variant,p.Leu295Phe,ENST00000446569,;ALG3,missense_variant,p.Leu335Phe,ENST00000418734,;ALG3,missense_variant,p.Leu343Phe,ENST00000445626,;ALG3,missense_variant,p.Leu351Phe,ENST00000455059,;ALG3,missense_variant,p.Leu391Phe,ENST00000397676,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,downstream_gene_variant,,ENST00000273794,;VWA5B2,downstream_gene_variant,,ENST00000426955,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;ALG3,3_prime_UTR_variant,,ENST00000411922,;ALG3,non_coding_transcript_exon_variant,,ENST00000485912,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;VWA5B2,downstream_gene_variant,,ENST00000461141,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	1202	182	183	SUCCESS
COL7A1	1294	.	GRCh37	3	48610139	48610139	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	17	122	0	ENST00000328333.8:c.6865A>T	p.Lys2289Ter	p.K2289*	ENST00000328333	NM_000094.3	2289	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2773.1	6865	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTAGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	87/118	.	.	.	.	.	.	.	.	.	87/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,stop_gained,p.Lys2289Ter,ENST00000328333,;COL7A1,stop_gained,p.Lys2257Ter,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000462475,;	6973	122	131	SUCCESS
KBTBD8	84541	.	GRCh37	3	67054129	67054129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	58	0	ENST00000417314.2:c.738A>T	p.Glu246Asp	p.E246D	ENST00000417314		246	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS2906.2	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAAGATAC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000401878	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000417314	Transcript	.	.	ENSG00000163376	30691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.56)	.	KBTB8_HUMAN	KBTBD8	HGNC	C9JAA6_HUMAN,C9J331_HUMAN	.	UPI0000209974	SNV	KBTBD8,missense_variant,p.Glu246Asp,ENST00000417314,;KBTBD8,missense_variant,p.Glu220Asp,ENST00000295568,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,downstream_gene_variant,,ENST00000484414,;KBTBD8,non_coding_transcript_exon_variant,,ENST00000469661,;	787	58	52	SUCCESS
DCBLD2	131566	.	GRCh37	3	98541530	98541530	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	50	263	0	ENST00000326840.6:c.679C>T	p.Pro227Ser	p.P227S	ENST00000326840	NM_080927.3	227	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS46878.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGGAATTG	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF571,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000321573	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000326840	Transcript	.	.	ENSG00000057019	24627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.31)	.	DCBD2_HUMAN	DCBLD2	HGNC	B7Z7Y3_HUMAN	.	UPI0000072ABB	SNV	DCBLD2,missense_variant,p.Pro227Ser,ENST00000326840,;DCBLD2,missense_variant,p.Pro227Ser,ENST00000326857,;DCBLD2,non_coding_transcript_exon_variant,,ENST00000469648,;ST3GAL6,downstream_gene_variant,,ENST00000491912,;ST3GAL6,downstream_gene_variant,,ENST00000495502,;DCBLD2,downstream_gene_variant,,ENST00000486004,;DCBLD2,upstream_gene_variant,,ENST00000460008,;DCBLD2,upstream_gene_variant,,ENST00000479144,;	1042	263	261	SUCCESS
ATP10D	57205	.	GRCh37	4	47517533	47517533	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	153	0	ENST00000273859.3:c.331T>C	p.Trp111Arg	p.W111R	ENST00000273859	NM_020453.3	111	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS3476.1	331	RADIA|MUTECT|MUSE|VARSCANS	.	TGAACTGGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000273859	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,missense_variant,p.Trp111Arg,ENST00000504445,;ATP10D,missense_variant,p.Trp111Arg,ENST00000273859,;ATP10D,downstream_gene_variant,,ENST00000507889,;	600	153	123	SUCCESS
FRAS1	80144	.	GRCh37	4	79238646	79238646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	74	0	ENST00000264895.6:c.1944C>A	p.Asp648Glu	p.D648E	ENST00000264895	NM_025074.6	648	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS54771.1	1944	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACCATGG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184	.	.	ENSP00000264895	.	17/74	.	.	.	.	.	.	.	.	.	17/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Asp577Glu,ENST00000502446,;FRAS1,missense_variant,p.Asp648Glu,ENST00000325942,;FRAS1,missense_variant,p.Asp648Glu,ENST00000264899,;FRAS1,missense_variant,p.Asp648Glu,ENST00000264895,;FRAS1,missense_variant,p.Asp491Glu,ENST00000508900,;	2384	74	79	SUCCESS
PCDHGC5	56097	.	GRCh37	5	140869878	140869878	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	32	129	0	ENST00000252087.1:c.1071C>T	p.Asn357=	p.N357=	ENST00000252087	NM_018929.2	357	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS4263.1	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACCCTGT	NONE	.	.	hmmpanther:PTHR24028:SF80,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000252087	.	1/4	.	.	.	.	.	.	.	.	COSM590561,COSM590562	1/4	PASS	ENST00000252087	Transcript	.	.	ENSG00000240764	8718	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PCDGM_HUMAN	PCDHGC5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006D689	SNV	PCDHGC5,synonymous_variant,p.%3D,ENST00000252087,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGC3,intron_variant,,ENST00000308177,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGC4,intron_variant,,ENST00000306593,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;	1071	129	140	SUCCESS
SLC6A3	6531	.	GRCh37	5	1409893	1409893	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	30	144	0	ENST00000270349.9:c.1341C>T	p.Leu447=	p.L447=	ENST00000270349	NM_001044.4	447	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3863.1	1341	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGAGCTC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,synonymous_variant,p.%3D,ENST00000270349,;SLC6A3,synonymous_variant,p.%3D,ENST00000453492,;SLC6A3,downstream_gene_variant,,ENST00000511750,;	1469	144	171	SUCCESS
ZNF454	285676	.	GRCh37	5	178391688	178391688	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	38	134	0	ENST00000320129.3:c.283A>G	p.Thr95Ala	p.T95A	ENST00000320129	NM_182594.2	95	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS4441.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTACTGTC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF221	.	.	ENSP00000326249	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320129	Transcript	.	.	ENSG00000178187	21200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	ZN454_HUMAN	ZNF454	HGNC	.	.	UPI00001407C7	SNV	ZNF454,missense_variant,p.Thr95Ala,ENST00000519564,;ZNF454,missense_variant,p.Thr95Ala,ENST00000320129,;RP11-281O15.4,upstream_gene_variant,,ENST00000519491,;	586	134	120	SUCCESS
MEF2C	4208	.	GRCh37	5	88119628	88119628	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	79	0	ENST00000437473.2:c.-23G>C		p.*8*	ENST00000437473	NM_001193350.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54878.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCTCGTC	NONE	.	.	.	.	.	ENSP00000340874	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000340208	Transcript	1	.	ENSG00000081189	6996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEF2C_HUMAN	MEF2C	HGNC	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG14_HUMAN	.	UPI0000D9B539	SNV	MEF2C,5_prime_UTR_variant,,ENST00000504921,;MEF2C,5_prime_UTR_variant,,ENST00000510942,;MEF2C,5_prime_UTR_variant,,ENST00000514015,;MEF2C,5_prime_UTR_variant,,ENST00000507984,;MEF2C,5_prime_UTR_variant,,ENST00000506554,;MEF2C,5_prime_UTR_variant,,ENST00000437473,;MEF2C,5_prime_UTR_variant,,ENST00000502983,;MEF2C,5_prime_UTR_variant,,ENST00000513252,;MEF2C,5_prime_UTR_variant,,ENST00000503075,;MEF2C,5_prime_UTR_variant,,ENST00000509373,;MEF2C,5_prime_UTR_variant,,ENST00000514028,;MEF2C,5_prime_UTR_variant,,ENST00000508610,;MEF2C,5_prime_UTR_variant,,ENST00000502831,;MEF2C,5_prime_UTR_variant,,ENST00000340208,;MEF2C,5_prime_UTR_variant,,ENST00000424173,;MEF2C,5_prime_UTR_variant,,ENST00000508569,;MEF2C,5_prime_UTR_variant,,ENST00000506716,;MEF2C,upstream_gene_variant,,ENST00000539796,;MEF2C,non_coding_transcript_exon_variant,,ENST00000515093,;MEF2C,downstream_gene_variant,,ENST00000509349,;MEF2C,non_coding_transcript_exon_variant,,ENST00000511086,;	384	79	64	SUCCESS
HLA-DMB	3109	.	GRCh37	6	32904957	32904957	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs548257449	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	64	157	0	ENST00000418107.2:c.614G>A	p.Arg205Gln	p.R205Q	ENST00000418107	NM_002118.4	205	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS4760.1	614	RADIA|MUTECT|MUSE	.	AGTCCCGAAGG	NONE	by1000G	.	hmmpanther:PTHR19944:SF51,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	T:0.001	.	ENSP00000398890	T:0	3/6	.	.	.	.	.	.	.	.	rs548257449	3/6	PASS	ENST00000418107	Transcript	.	T:0.0002	ENSG00000242574	4935	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	T:0	tolerated(0.94)	.	DMB_HUMAN	HLA-DMB	HGNC	B4DVC2_HUMAN	.	UPI0000140DCC	SNV	HLA-DMB,missense_variant,p.Arg205Gln,ENST00000416244,;HLA-DMB,missense_variant,p.Arg95Gln,ENST00000414017,;HLA-DMB,missense_variant,p.Arg87Gln,ENST00000438510,;HLA-DMB,missense_variant,p.Arg205Gln,ENST00000418107,;XXbac-BPG181M17.5,downstream_gene_variant,,ENST00000429234,;AL645941.1,upstream_gene_variant,,ENST00000390777,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000498020,;HLA-DMB,upstream_gene_variant,,ENST00000487996,;HLA-DMB,upstream_gene_variant,,ENST00000477537,;	877	158	241	SUCCESS
PRIM2	5558	.	GRCh37	6	57393119	57393119	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	22	0	ENST00000607273.1:c.769T>A	p.Tyr257Asn	p.Y257N	ENST00000607273	NM_000947.3	257	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	.	769	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCTACACT	NONE	.	.	hmmpanther:PTHR10537:SF3,hmmpanther:PTHR10537,Pfam_domain:PF04104	.	.	ENSP00000475738	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,missense_variant,p.Tyr257Asn,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000470638,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;PRIM2,non_coding_transcript_exon_variant,,ENST00000550475,;	856	22	29	SUCCESS
RIMS2	9699	.	GRCh37	8	104897822	104897822	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	11	81	0	ENST00000406091.3:c.995G>T	p.Arg332Leu	p.R332L	ENST00000406091	NM_001100117.2	332	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS55269.1	995	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGCTACC	BUFFER|p.R112Q|c.335G>A|3,BUFFER|p.R142Q|c.425G>A|3,BUFFER|p.R370Q|c.1109G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	4/24	.	.	.	.	.	.	.	.	COSM603283,COSM603282,COSM1144695,COSM603281,COSM1144696	4/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,missense_variant,p.Arg332Leu,ENST00000406091,;RIMS2,missense_variant,p.Arg140Leu,ENST00000408894,;RIMS2,missense_variant,p.Arg332Leu,ENST00000504942,;RIMS2,missense_variant,p.Arg140Leu,ENST00000507740,;RIMS2,missense_variant,p.Arg140Leu,ENST00000262231,;RIMS2,missense_variant,p.Arg140Leu,ENST00000515551,;RIMS2,missense_variant,p.Arg110Leu,ENST00000436393,;RIMS2,non_coding_transcript_exon_variant,,ENST00000522174,;	995	81	90	SUCCESS
MED27	9442	.	GRCh37	9	134738510	134738510	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	29	142	0	ENST00000292035.5:c.741C>T	p.Thr247=	p.T247=	ENST00000292035	NM_004269.3	247	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6945.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGGTGGC	NONE	.	.	Pfam_domain:PF11571,hmmpanther:PTHR13130,hmmpanther:PTHR13130:SF4	.	.	ENSP00000292035	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000292035	Transcript	.	.	ENSG00000160563	2377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED27_HUMAN	MED27	HGNC	U4Q365_HUMAN	.	UPI0000161234	SNV	MED27,synonymous_variant,p.%3D,ENST00000292035,;MED27,synonymous_variant,p.%3D,ENST00000357028,;	805	142	164	SUCCESS
RPL7A	6130	.	GRCh37	9	136216457	136216457	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782417066	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	39	105	1	ENST00000323345.6:c.176G>A	p.Arg59His	p.R59H	ENST00000323345	NM_000972.2	59	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6965.1	176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCTATA	NONE	.	.	hmmpanther:PTHR23105:SF29,hmmpanther:PTHR23105,Prints_domain:PR00882	.	.	ENSP00000361076	.	3/8	.	.	.	.	.	.	.	.	rs782417066	3/8	PASS	ENST00000323345	Transcript	.	.	ENSG00000148303	10364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.41)	.	RL7A_HUMAN	RPL7A	HGNC	Q9BY74_HUMAN	.	UPI0000001619	SNV	RPL7A,missense_variant,p.Arg86His,ENST00000426651,;RPL7A,missense_variant,p.Arg59His,ENST00000323345,;RPL7A,synonymous_variant,p.%3D,ENST00000315731,;SURF1,downstream_gene_variant,,ENST00000371974,;MED22,upstream_gene_variant,,ENST00000476080,;MED22,upstream_gene_variant,,ENST00000344469,;MED22,upstream_gene_variant,,ENST00000491289,;MED22,upstream_gene_variant,,ENST00000343730,;MED22,upstream_gene_variant,,ENST00000494177,;MED22,upstream_gene_variant,,ENST00000446777,;MED22,upstream_gene_variant,,ENST00000371999,;MED22,upstream_gene_variant,,ENST00000457204,;SNORD36C,upstream_gene_variant,,ENST00000516733,;SNORD24,downstream_gene_variant,,ENST00000383884,;SNORD36A,upstream_gene_variant,,ENST00000362874,;SNORD36B,upstream_gene_variant,,ENST00000363961,;RPL7A,non_coding_transcript_exon_variant,,ENST00000496554,;RPL7A,non_coding_transcript_exon_variant,,ENST00000468019,;RPL7A,non_coding_transcript_exon_variant,,ENST00000485706,;RPL7A,non_coding_transcript_exon_variant,,ENST00000489392,;RPL7A,non_coding_transcript_exon_variant,,ENST00000463740,;SURF1,downstream_gene_variant,,ENST00000495952,;MED22,upstream_gene_variant,,ENST00000471524,;RPL7A,upstream_gene_variant,,ENST00000492798,;SURF1,downstream_gene_variant,,ENST00000437995,;MED22,upstream_gene_variant,,ENST00000482295,;	206	106	157	SUCCESS
TEK	7010	.	GRCh37	9	27206595	27206595	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	11	96	0	ENST00000380036.4:c.2380G>C	p.Val794Leu	p.V794L	ENST00000380036	NM_000459.3	794	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS6519.1	2380	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGTGCAG	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416	.	.	ENSP00000369375	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(1)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Val751Leu,ENST00000406359,;TEK,missense_variant,p.Val646Leu,ENST00000519097,;TEK,missense_variant,p.Val794Leu,ENST00000380036,;TEK,downstream_gene_variant,,ENST00000519080,;RP11-179D22.1,upstream_gene_variant,,ENST00000422804,;	2822	96	102	SUCCESS
PRKACG	5568	.	GRCh37	9	71628907	71628907	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	3	47	0	ENST00000377276.2:c.102C>T	p.Pro34=	p.P34=	ENST00000377276	NM_002732.3	34	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6625.1	102	MUTECT|MUSE	.	TGAGCGGGGTT	NONE	.	.	Superfamily_domains:SSF56112,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF53	.	.	ENSP00000366488	.	1/1	.	.	.	.	.	.	.	.	COSM1263044	1/1	PASS	ENST00000377276	Transcript	.	.	ENSG00000165059	9382	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	KAPCG_HUMAN	PRKACG	HGNC	.	.	UPI000013E448	SNV	PRKACG,synonymous_variant,p.%3D,ENST00000377276,;PIP5K1B,downstream_gene_variant,,ENST00000265382,;PIP5K1B,downstream_gene_variant,,ENST00000478500,;	133	47	68	SUCCESS
VPS13A	23230	.	GRCh37	9	79983032	79983032	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	40	0	ENST00000360280.3:c.8533A>C	p.Ile2845Leu	p.I2845L	ENST00000360280	NM_033305.2	2845	Ata/Cta	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS6655.1	8533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATAAGA	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	62/72	.	.	.	.	.	.	.	.	.	62/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.1)	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,missense_variant,p.Ile2845Leu,ENST00000357409,;VPS13A,missense_variant,p.Ile2845Leu,ENST00000376634,;VPS13A,missense_variant,p.Ile2806Leu,ENST00000376636,;VPS13A,missense_variant,p.Ile2845Leu,ENST00000360280,;	8793	40	37	SUCCESS
ZNF169	169841	.	GRCh37	9	97055385	97055385	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	92	0	ENST00000395395.2:c.256+34G>A		p.*86*	ENST00000395395	NM_194320.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6709.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGGGCAG	NONE	.	.	.	.	.	ENSP00000378792	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395395	Transcript	.	.	ENSG00000175787	12957	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN169_HUMAN	ZNF169	HGNC	.	.	UPI00001C1EC1	SNV	ZNF169,missense_variant,p.Arg97Lys,ENST00000481550,;ZNF169,intron_variant,,ENST00000480716,;ZNF169,intron_variant,,ENST00000375354,;ZNF169,intron_variant,,ENST00000395395,;ZNF169,intron_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000492115,;VDAC1P11,upstream_gene_variant,,ENST00000458323,;	.	92	92	SUCCESS
CSTF2	1478	.	GRCh37	X	100088436	100088436	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139392902	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	436	97	429	2	ENST00000372972.2:c.1475C>T	p.Ala492Val	p.A492V	ENST00000372972	NM_001325.2	492	gCg/gTg	0	T:0	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS14473.1	1475	RADIA|SOMATICSNIPER|VARSCANS	.	GGGGGCGGTTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF57	T:0.001	T:0.0001	ENSP00000362063	T:0	11/14	.	.	.	.	.	.	.	.	rs139392902	11/14	PASS	ENST00000372972	Transcript	.	T:0.0003	ENSG00000101811	2484	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.039)	T:0	deleterious(0.03)	.	CSTF2_HUMAN	CSTF2	HGNC	.	.	UPI000003BCAF	SNV	CSTF2,missense_variant,p.Ala492Val,ENST00000372972,;CSTF2,missense_variant,p.Ala512Val,ENST00000415585,;CSTF2,intron_variant,,ENST00000475126,;	1491	431	533	SUCCESS
DNASE1L1	1774	.	GRCh37	X	153633194	153633194	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	52	208	0	ENST00000014935.3:c.286A>G	p.Met96Val	p.M96V	ENST00000014935		96	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS14747.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATGTAGG	NONE	.	.	hmmpanther:PTHR11371:SF22,hmmpanther:PTHR11371,Pfam_domain:PF03372,Gene3D:3.60.10.10,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219	.	.	ENSP00000358824	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000369809	Transcript	.	.	ENSG00000013563	2957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	deleterious(0.03)	.	DNSL1_HUMAN	DNASE1L1	HGNC	Q5HY40_HUMAN,A6QRJ0_HUMAN,A3KQT1_HUMAN	.	UPI0000129891	SNV	DNASE1L1,missense_variant,p.Met96Val,ENST00000369808,;DNASE1L1,missense_variant,p.Met96Val,ENST00000309585,;DNASE1L1,missense_variant,p.Met96Val,ENST00000369809,;DNASE1L1,missense_variant,p.Met96Val,ENST00000451865,;DNASE1L1,missense_variant,p.Met96Val,ENST00000424626,;DNASE1L1,missense_variant,p.Met96Val,ENST00000014935,;DNASE1L1,missense_variant,p.Met96Val,ENST00000369807,;DNASE1L1,missense_variant,p.Met96Val,ENST00000393638,;DNASE1L1,intron_variant,,ENST00000447892,;RPL10,intron_variant,,ENST00000428169,;DNASE1L1,intron_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000344746,;RPL10,downstream_gene_variant,,ENST00000406022,;RPL10,downstream_gene_variant,,ENST00000449494,;RPL10,downstream_gene_variant,,ENST00000436473,;RPL10,downstream_gene_variant,,ENST00000427682,;RPL10,downstream_gene_variant,,ENST00000369817,;RPL10,downstream_gene_variant,,ENST00000458500,;RPL10,downstream_gene_variant,,ENST00000451365,;RPL10,downstream_gene_variant,,ENST00000424325,;SNORA70,downstream_gene_variant,,ENST00000384436,;DNASE1L1,upstream_gene_variant,,ENST00000497242,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000474786,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000492572,;	916	208	258	SUCCESS
MPP1	4354	.	GRCh37	X	154010040	154010040	+	synonymous_variant	Silent	SNP	C	C	T	rs782091002	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	57	233	0	ENST00000369534.3:c.984G>A	p.Gly328=	p.G328=	ENST00000369534	NM_001166461.1	328	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14762.1	984	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCCATC	NONE	byFrequency	.	PROSITE_profiles:PS50052,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,PROSITE_patterns:PS00856,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540	.	.	ENSP00000358547	.	10/12	.	.	.	.	.	.	.	.	rs782091002	10/12	PASS	ENST00000369534	Transcript	.	.	ENSG00000130830	7219	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EM55_HUMAN	MPP1	HGNC	A8MTH1_HUMAN	.	UPI0000129E86	SNV	MPP1,synonymous_variant,p.%3D,ENST00000393531,;MPP1,synonymous_variant,p.%3D,ENST00000413259,;MPP1,synonymous_variant,p.%3D,ENST00000453245,;MPP1,synonymous_variant,p.%3D,ENST00000369534,;DKC1,downstream_gene_variant,,ENST00000369550,;MPP1,downstream_gene_variant,,ENST00000393529,;MPP1,downstream_gene_variant,,ENST00000428488,;DKC1,downstream_gene_variant,,ENST00000492372,;MPP1,downstream_gene_variant,,ENST00000488754,;MPP1,downstream_gene_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000488694,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,non_coding_transcript_exon_variant,,ENST00000491955,;MPP1,upstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000417435,;MPP1,downstream_gene_variant,,ENST00000493871,;MPP1,downstream_gene_variant,,ENST00000494170,;MPP1,downstream_gene_variant,,ENST00000475943,;	1132	233	318	SUCCESS
BMP15	9210	.	GRCh37	X	50658924	50658924	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	295	48	281	0	ENST00000252677.3:c.496T>A	p.Ser166Thr	p.S166T	ENST00000252677	NM_005448.2	166	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS14334.1	496	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTTCCTCA	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22	.	.	ENSP00000252677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000252677	Transcript	.	.	ENSG00000130385	1068	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.66)	.	BMP15_HUMAN	BMP15	HGNC	.	.	UPI000013CD7C	SNV	BMP15,missense_variant,p.Ser166Thr,ENST00000252677,;	496	281	343	SUCCESS
RIBC1	158787	.	GRCh37	X	53457369	53457369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782066146	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	257	56	293	1	ENST00000375327.3:c.689G>A	p.Arg230His	p.R230H	ENST00000375327	NM_001031745.3	230	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS35299.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGCTGTG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05914,hmmpanther:PTHR14517:SF8,hmmpanther:PTHR14517	.	.	ENSP00000364476	.	7/8	.	.	.	.	.	.	.	.	rs782066146	7/8	PASS	ENST00000375327	Transcript	.	.	ENSG00000158423	26537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.33)	.	RIBC1_HUMAN	RIBC1	HGNC	.	.	UPI0000049C83	SNV	RIBC1,missense_variant,p.Arg115His,ENST00000414955,;RIBC1,missense_variant,p.Arg230His,ENST00000375327,;HSD17B10,downstream_gene_variant,,ENST00000375304,;RIBC1,downstream_gene_variant,,ENST00000329209,;HSD17B10,downstream_gene_variant,,ENST00000375298,;RIBC1,downstream_gene_variant,,ENST00000457095,;HSD17B10,downstream_gene_variant,,ENST00000168216,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;HSD17B10,downstream_gene_variant,,ENST00000477706,;RIBC1,downstream_gene_variant,,ENST00000490702,;HSD17B10,downstream_gene_variant,,ENST00000495986,;	842	294	313	SUCCESS
TACC2	10579	.	GRCh37	10	123844727	123844727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	31	152	0	ENST00000334433.3:c.2712G>T	p.Gln904His	p.Q904H	ENST00000334433		904	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7626.1	2712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGCTCCC	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	.	4/23	nonpreferredpair	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Gln904His,ENST00000369005,;TACC2,missense_variant,p.Gln904His,ENST00000453444,;TACC2,missense_variant,p.Gln904His,ENST00000334433,;TACC2,missense_variant,p.Gln904His,ENST00000515603,;TACC2,missense_variant,p.Gln904His,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	3052	152	171	SUCCESS
OAT	4942	.	GRCh37	10	126089485	126089485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	27	80	0	ENST00000368845.5:c.1083G>A	p.Met361Ile	p.M361I	ENST00000368845	NM_000274.3	361	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7639.1	1083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTCATGAG	NONE	.	.	hmmpanther:PTHR11986:SF18,hmmpanther:PTHR11986,Gene3D:3.90.1150.10,Pfam_domain:PF00202,TIGRFAM_domain:TIGR01885,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000357838	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000368845	Transcript	1	.	ENSG00000065154	8091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	tolerated(0.11)	.	OAT_HUMAN	OAT	HGNC	.	.	UPI0000000C1B	SNV	OAT,missense_variant,p.Met223Ile,ENST00000539214,;OAT,missense_variant,p.Met361Ile,ENST00000368845,;OAT,non_coding_transcript_exon_variant,,ENST00000471127,;OAT,downstream_gene_variant,,ENST00000483711,;OAT,downstream_gene_variant,,ENST00000467675,;	1176	80	126	SUCCESS
TTC40	0	.	GRCh37	10	134731941	134731941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	45	206	0	ENST00000368586.5:c.1942G>T	p.Asp648Tyr	p.D648Y	ENST00000368586	NM_001200049.2	648	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS58101.1	1942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCGGGGC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	16/58	.	.	.	.	.	.	.	.	.	16/58	nonpreferredpair	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.05)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Asp648Tyr,ENST00000368582,;TTC40,missense_variant,p.Asp648Tyr,ENST00000368586,;TTC40,upstream_gene_variant,,ENST00000486104,;	2043	206	187	SUCCESS
GPRIN2	9721	.	GRCh37	10	46999762	46999762	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	312	21	251	0	ENST00000374314.4:c.882C>T	p.Ala294=	p.A294=	ENST00000374314		294	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31192.1	882	MUTECT|MUSE	.	TGTGCCCACCT	NONE	.	.	hmmpanther:PTHR15718	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,synonymous_variant,p.%3D,ENST00000374314,;GPRIN2,synonymous_variant,p.%3D,ENST00000374317,;	1837	251	334	SUCCESS
TMEM218	219854	.	GRCh37	11	124971201	124971201	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	42	1	ENST00000279968.4:c.111-2A>T		p.X37_splice	ENST00000279968		37		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31715.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTGGGGT	NONE	.	.	.	.	.	ENSP00000399803	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000455225	Transcript	.	.	ENSG00000150433	27344	.	.	HIGH	2/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM218_HUMAN	TMEM218	HGNC	E9PQM6_HUMAN,E9PL96_HUMAN	.	UPI00001617A4	SNV	TMEM218,splice_acceptor_variant,,ENST00000524373,;TMEM218,splice_acceptor_variant,,ENST00000529530,;TMEM218,splice_acceptor_variant,,ENST00000455225,;TMEM218,splice_acceptor_variant,,ENST00000528724,;TMEM218,splice_acceptor_variant,,ENST00000533273,;TMEM218,splice_acceptor_variant,,ENST00000527271,;TMEM218,splice_acceptor_variant,,ENST00000526175,;TMEM218,splice_acceptor_variant,,ENST00000279968,;TMEM218,splice_acceptor_variant,,ENST00000532407,;TMEM218,splice_acceptor_variant,,ENST00000531909,;TMEM218,splice_acceptor_variant,,ENST00000529583,;TMEM218,splice_acceptor_variant,,ENST00000527766,;TMEM218,intron_variant,,ENST00000532156,;TMEM218,intron_variant,,ENST00000529609,;TMEM218,splice_acceptor_variant,,ENST00000531262,;TMEM218,splice_acceptor_variant,,ENST00000531851,;TMEM218,non_coding_transcript_exon_variant,,ENST00000527257,;TMEM218,downstream_gene_variant,,ENST00000532717,;	.	43	30	SUCCESS
SYVN1	84447	.	GRCh37	11	64900425	64900425	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	160	0	ENST00000377190.3:c.346T>G	p.Phe116Val	p.F116V	ENST00000377190	NM_172230.2	116	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS31605.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAAACATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF69	.	.	ENSP00000366395	.	4/16	.	.	.	.	.	.	.	.	.	4/16	nonpreferredpair	ENST00000377190	Transcript	.	.	ENSG00000162298	20738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	SYVN1_HUMAN	SYVN1	HGNC	E9PMA1_HUMAN	.	UPI000004EE90	SNV	SYVN1,missense_variant,p.Phe116Val,ENST00000307289,;SYVN1,missense_variant,p.Phe56Val,ENST00000531018,;SYVN1,missense_variant,p.Phe101Val,ENST00000528487,;SYVN1,missense_variant,p.Phe116Val,ENST00000377190,;SYVN1,missense_variant,p.Phe116Val,ENST00000526060,;SYVN1,missense_variant,p.Phe116Val,ENST00000294256,;SYVN1,upstream_gene_variant,,ENST00000527765,;SYVN1,upstream_gene_variant,,ENST00000526121,;SYVN1,missense_variant,p.Phe116Val,ENST00000527142,;SYVN1,missense_variant,p.Phe99Val,ENST00000532771,;SYVN1,non_coding_transcript_exon_variant,,ENST00000533685,;SYVN1,non_coding_transcript_exon_variant,,ENST00000525874,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,non_coding_transcript_exon_variant,,ENST00000529207,;SYVN1,upstream_gene_variant,,ENST00000530451,;	441	160	161	SUCCESS
C11orf73	0	.	GRCh37	11	86048470	86048470	+	synonymous_variant	Silent	SNP	A	A	G	rs376891384	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	31	114	0	ENST00000278483.3:c.318A>G	p.Pro106=	p.P106=	ENST00000278483	NM_016401.3	106	ccA/ccG	0	G:0.0005	.	.	.	.	G	P	protein_coding	YES	CCDS8275.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCATCTGT	NONE	.	.	hmmpanther:PTHR12925:SF0,hmmpanther:PTHR12925,Pfam_domain:PF05603	.	G:0	ENSP00000278483	.	3/5	.	.	.	.	.	.	.	.	rs376891384	3/5	nonpreferredpair	ENST00000278483	Transcript	.	.	ENSG00000149196	26938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIKES_HUMAN	C11orf73	HGNC	.	.	UPI000006CF46	SNV	C11orf73,synonymous_variant,p.%3D,ENST00000278483,;C11orf73,synonymous_variant,p.%3D,ENST00000533986,;C11orf73,non_coding_transcript_exon_variant,,ENST00000530208,;C11orf73,non_coding_transcript_exon_variant,,ENST00000532270,;C11orf73,non_coding_transcript_exon_variant,,ENST00000531485,;C11orf73,3_prime_UTR_variant,,ENST00000528004,;	544	114	140	SUCCESS
ANO4	121601	.	GRCh37	12	101490394	101490394	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1007246830	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	20	106	0	ENST00000392977.3:c.1819T>A	p.Ser607Thr	p.S607T	ENST00000392977	NM_001286615.1	607	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31884.1	1714	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTCCACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547	.	.	ENSP00000376705	.	18/27	.	.	.	.	.	.	.	.	.	18/27	nonpreferredpair	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.752)	.	deleterious(0.03)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Ser127Thr,ENST00000550015,;ANO4,missense_variant,p.Ser127Thr,ENST00000299222,;ANO4,missense_variant,p.Ser607Thr,ENST00000392977,;ANO4,missense_variant,p.Ser572Thr,ENST00000392979,;	2075	106	150	SUCCESS
MLXIP	22877	.	GRCh37	12	122612488	122612507	+	frameshift_variant	Frame_Shift_Del	DEL	GGACGTAGACGAGCACCGCC	GGACGTAGACGAGCACCGCC	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	GGACGTAGACGAGCACCGCC	GGACGTAGACGAGCACCGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	63	0	ENST00000319080.7:c.581_600del	p.Asp194AlafsTer39	p.D194Afs*39	ENST00000319080	NM_014938.4_dupl16	193	gtGGACGTAGACGAGCACCGCCgg/gtgg	0	.	.	.	.	.	-	VDVDEHRR/VX	protein_coding	YES	.	579-598	VARSCANI*|PINDEL	.	CTCTGTGGACGTAGACGAGCACCGCCGGCCG	NONE	.	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	.	.	ENSP00000312834	.	3/17	.	.	.	.	.	.	.	.	.	3/17	nonpreferredpair	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	deletion	MLXIP,frameshift_variant,p.Asp194AlafsTer39,ENST00000319080,;MLXIP,5_prime_UTR_variant,,ENST00000535430,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,upstream_gene_variant,,ENST00000535876,;MLXIP,upstream_gene_variant,,ENST00000538061,;	711-730	63	81	SUCCESS
TMTC1	83857	.	GRCh37	12	29920979	29920979	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	65	0	ENST00000539277.1:c.332C>T	p.Pro111Leu	p.P111L	ENST00000539277	NM_001193451.1	111	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS53772.1	332	RADIA|MUSE|VARSCANS	.	AGAATGGGTTC	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF353	.	.	ENSP00000442046	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000539277	Transcript	.	.	ENSG00000133687	24099	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	TMTC1_HUMAN	TMTC1	HGNC	B3KVW1_HUMAN	.	UPI0001DD37FA	SNV	TMTC1,missense_variant,p.Pro3Leu,ENST00000256062,;TMTC1,missense_variant,p.Pro3Leu,ENST00000381224,;TMTC1,missense_variant,p.Pro111Leu,ENST00000551659,;TMTC1,missense_variant,p.Pro111Leu,ENST00000539277,;TMTC1,missense_variant,p.Pro111Leu,ENST00000552618,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	391	65	74	SUCCESS
DTX3	196403	.	GRCh37	12	58001298	58001298	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745554527	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	314	59	256	1	ENST00000337737.3:c.652C>T	p.Arg218Trp	p.R218W	ENST00000337737	NM_178502.2	218	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS41800.1	652	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCGGATG	NONE	byFrequency	.	hmmpanther:PTHR12622	.	.	ENSP00000447873	.	3/5	.	.	.	.	.	.	.	.	rs745554527	3/5	nonpreferredpair	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.872)	.	deleterious(0.02)	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,missense_variant,p.Arg218Trp,ENST00000337737,;DTX3,missense_variant,p.Arg218Trp,ENST00000548804,;DTX3,missense_variant,p.Arg218Trp,ENST00000548198,;DTX3,missense_variant,p.Arg6Trp,ENST00000550300,;DTX3,missense_variant,p.Arg221Trp,ENST00000551632,;DTX3,downstream_gene_variant,,ENST00000549583,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000548478,;DTX3,downstream_gene_variant,,ENST00000550596,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;PIP4K2C,downstream_gene_variant,,ENST00000540759,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;	2156	257	373	SUCCESS
RNASE4	6038	.	GRCh37	14	21167843	21167844	+	protein_altering_variant	In_Frame_Ins	INS	-	-	ATC	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	46	0	ENST00000397995.2:c.314_315insTCA	p.Lys105delinsAsnGln	p.K105delinsNQ	ENST00000397995		105	aag/aATCag	0	.	.	.	.	.	ATC	K/NQ	protein_coding	YES	CCDS9555.1	313-314	VARSCANI*|PINDEL	.	TAGTGAAGGTC	NONE	.	.	Prints_domain:PR00794,Superfamily_domains:SSF54076,SMART_domains:SM00092,Gene3D:3.10.130.10,Pfam_domain:PF00074,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF10	.	.	ENSP00000452245	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000555835	Transcript	.	.	ENSG00000258818	10047	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RNAS4_HUMAN	RNASE4	HGNC	Q53XB4_HUMAN	.	UPI000000CBC2	insertion	RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000304704,;RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000555597,;RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000397995,;RNASE4,protein_altering_variant,p.Lys105delinsAsnGln,ENST00000555835,;AL163636.6,3_prime_UTR_variant,,ENST00000553909,;RP11-903H12.3,intron_variant,,ENST00000554286,;ANG,downstream_gene_variant,,ENST00000554073,;	989-990	46	27	SUCCESS
DUOX2	50506	.	GRCh37	15	45391660	45391660	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757212555	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	59	0	ENST00000603300.1:c.3436G>A	p.Ala1146Thr	p.A1146T	ENST00000603300	NM_014080.4	1146	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10117.1	3436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCGTGGC	NONE	.	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Pfam_domain:PF01794	.	.	ENSP00000475084	.	26/34	.	.	.	.	.	.	.	.	rs757212555	26/34	nonpreferredpair	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.12)	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.Ala1146Thr,ENST00000389039,;DUOX2,missense_variant,p.Ala1146Thr,ENST00000603300,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,downstream_gene_variant,,ENST00000560797,;DUOX2,downstream_gene_variant,,ENST00000558416,;	3639	59	83	SUCCESS
TSC2	7249	.	GRCh37	16	2134406	2134406	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs886041772	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	72	0	ENST00000219476.3:c.4183C>T	p.Gln1395Ter	p.Q1395*	ENST00000219476	NM_000548.3	1395	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10458.1	4183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCAGGAC	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	.	.	ENSP00000219476	.	34/42	.	.	.	.	.	.	.	.	.	34/42	nonpreferredpair	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Gln1292Ter,ENST00000439673,;TSC2,stop_gained,p.Gln1395Ter,ENST00000219476,;TSC2,stop_gained,p.Gln1339Ter,ENST00000568454,;TSC2,stop_gained,p.Gln123Ter,ENST00000569110,;TSC2,stop_gained,p.Gln1328Ter,ENST00000401874,;TSC2,stop_gained,p.Gln1352Ter,ENST00000353929,;TSC2,stop_gained,p.Gln1372Ter,ENST00000350773,;TSC2,stop_gained,p.Gln1280Ter,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;TSC2,downstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000483020,;TSC2,downstream_gene_variant,,ENST00000561695,;TSC2,downstream_gene_variant,,ENST00000471143,;	4813	72	47	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29889651	29889651	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1161019964	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	110	0	ENST00000308713.5:c.1669G>A	p.Val557Met	p.V557M	ENST00000308713	NM_001114099.2	557	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS10659.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACGCCCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000312550	.	10/17	.	.	.	.	.	.	.	.	.	10/17	nonpreferredpair	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	deleterious(0.02)	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Val162Met,ENST00000563118,;SEZ6L2,missense_variant,p.Val557Met,ENST00000308713,;SEZ6L2,missense_variant,p.Val487Met,ENST00000350527,;SEZ6L2,missense_variant,p.Val443Met,ENST00000346932,;SEZ6L2,missense_variant,p.Val513Met,ENST00000537485,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;	2197	110	113	SUCCESS
SLC6A10P	386757	.	GRCh37	16	32894016	32894016	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	364	121	534	0	ENST00000330048.5:n.1242C>G		p.*414*	ENST00000330048				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGACCAG	NONE	.	3531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000398669	Transcript	.	.	ENSG00000214614	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-989E6.3	Clone_based_vega_gene	.	.	.	SNV	RP11-989E6.3,upstream_gene_variant,,ENST00000562241,;RP11-989E6.3,upstream_gene_variant,,ENST00000398669,;RP11-989E6.3,upstream_gene_variant,,ENST00000566260,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000330048,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000561837,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000431994,;	.	534	485	SUCCESS
RBL2	5934	.	GRCh37	16	53524210	53524210	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	101	0	ENST00000262133.6:c.3418T>C	p.Ter1140ArgextTer2	p.*1140Rext*2	ENST00000262133	NM_005611.3	1140	Tga/Cga	0	.	.	.	.	.	C	*/R	protein_coding	YES	CCDS10748.1	3418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTGAGGT	NONE	.	.	.	.	.	ENSP00000262133	.	22/22	.	.	.	.	.	.	.	.	.	22/22	nonpreferredpair	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,stop_lost,p.Ter519ArgextTer2,ENST00000544545,;RBL2,stop_lost,p.Ter1140ArgextTer2,ENST00000262133,;AKTIP,downstream_gene_variant,,ENST00000565408,;AKTIP,downstream_gene_variant,,ENST00000563928,;AKTIP,downstream_gene_variant,,ENST00000568022,;AKTIP,downstream_gene_variant,,ENST00000300245,;AKTIP,downstream_gene_variant,,ENST00000568596,;AKTIP,downstream_gene_variant,,ENST00000394657,;AKTIP,downstream_gene_variant,,ENST00000570004,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;AKTIP,downstream_gene_variant,,ENST00000563108,;AKTIP,downstream_gene_variant,,ENST00000561799,;AKTIP,downstream_gene_variant,,ENST00000566045,;AKTIP,downstream_gene_variant,,ENST00000571523,;AKTIP,downstream_gene_variant,,ENST00000565431,;	3555	101	96	SUCCESS
STAT5B	6777	.	GRCh37	17	40384099	40384100	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	219	44	197	0	ENST00000293328.3:c.46dup	p.His16ProfsTer14	p.H16Pfs*14	ENST00000293328	NM_012448.3	16	cat/cCat	0	.	.	.	.	.	G	H/PX	protein_coding	YES	CCDS11423.1	46-47	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGATGAAGG	NONE	.	.	hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Gene3D:1bgfA00,Pfam_domain:PF02865,SMART_domains:SM00964,Superfamily_domains:0035539	.	.	ENSP00000293328	.	2/19	.	.	.	.	.	.	.	.	.	2/19	nonpreferredpair	ENST00000293328	Transcript	.	.	ENSG00000173757	11367	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STA5B_HUMAN	STAT5B	HGNC	C9J4I3_HUMAN	.	UPI000006F059	insertion	STAT5B,frameshift_variant,p.His16ProfsTer14,ENST00000415845,;STAT5B,frameshift_variant,p.His16ProfsTer14,ENST00000293328,;STAT5B,non_coding_transcript_exon_variant,,ENST00000468312,;	215-216	197	263	SUCCESS
PGS1	9489	.	GRCh37	17	76395500	76395500	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	44	97	0	ENST00000262764.6:c.585del	p.His196ThrfsTer37	p.H196Tfs*37	ENST00000262764	NM_024419.3	195	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS42391.1	583	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCTCTTTCAC	NONE	.	.	hmmpanther:PTHR12586:SF1,hmmpanther:PTHR12586,Pfam_domain:PF13091,Gene3D:3.30.870.10,PIRSF_domain:PIRSF000850,Superfamily_domains:SSF56024	.	.	ENSP00000262764	.	5/10	.	.	.	.	.	.	.	.	.	5/10	nonpreferredpair	ENST00000262764	Transcript	.	.	ENSG00000087157	30029	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGPS1_HUMAN	PGS1	HGNC	.	.	UPI00000435E5	deletion	PGS1,frameshift_variant,p.His180ThrfsTer37,ENST00000587356,;PGS1,frameshift_variant,p.His61ThrfsTer37,ENST00000329897,;PGS1,frameshift_variant,p.His195ThrfsTer37,ENST00000592043,;PGS1,frameshift_variant,p.His196ThrfsTer37,ENST00000262764,;PGS1,frameshift_variant,p.His170ThrfsTer37,ENST00000589689,;PGS1,upstream_gene_variant,,ENST00000586355,;PGS1,upstream_gene_variant,,ENST00000586019,;SNORA30,upstream_gene_variant,,ENST00000363193,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,intron_variant,,ENST00000585521,;PGS1,downstream_gene_variant,,ENST00000586325,;PGS1,frameshift_variant,p.His170ThrfsTer37,ENST00000589426,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,3_prime_UTR_variant,,ENST00000588169,;PGS1,upstream_gene_variant,,ENST00000591996,;PGS1,downstream_gene_variant,,ENST00000586510,;	609	97	169	SUCCESS
SMAD7	4092	.	GRCh37	18	46448256	46448256	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376228389	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	44	0	ENST00000262158.2:c.767G>A	p.Gly256Glu	p.G256E	ENST00000262158	NM_001190821.1	256	gGg/gAg	0	T:0.0002	.	.	.	.	T	G/E	protein_coding	YES	CCDS11936.1	767	MUTECT|MUSE	.	GATCCCCAGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Superfamily_domains:SSF49879	.	T:0	ENSP00000262158	.	4/4	.	.	.	.	.	.	.	.	rs376228389	4/4	nonpreferredpair	ENST00000262158	Transcript	.	.	ENSG00000101665	6773	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.25)	.	tolerated(0.08)	.	SMAD7_HUMAN	SMAD7	HGNC	K7EKF0_HUMAN	.	UPI0000135A83	SNV	SMAD7,missense_variant,p.Gly41Glu,ENST00000591805,;SMAD7,missense_variant,p.Gly41Glu,ENST00000586093,;SMAD7,missense_variant,p.Gly256Glu,ENST00000262158,;SMAD7,missense_variant,p.Gly255Glu,ENST00000589634,;SMAD7,non_coding_transcript_exon_variant,,ENST00000585986,;SMAD7,non_coding_transcript_exon_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,;	1054	44	50	SUCCESS
OR10H1	26539	.	GRCh37	19	15917988	15917988	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	48	275	0	ENST00000334920.2:c.860G>A	p.Ser287Asn	p.S287N	ENST00000334920	NM_013940.2	287	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS12335.1	860	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCTGAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000335596	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000334920	Transcript	.	.	ENSG00000186723	8172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.99)	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,missense_variant,p.Ser287Asn,ENST00000334920,;	949	275	274	SUCCESS
PPAP2C	0	.	GRCh37	19	288111	288111	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	33	177	0	ENST00000434325.2:c.-56G>A		p.*19*	ENST00000434325		59		0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS12024.1	176	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCAGTAA	NONE	.	.	hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000329697	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,missense_variant,p.Cys59Tyr,ENST00000327790,;PPAP2C,missense_variant,p.Cys38Tyr,ENST00000269812,;PPAP2C,missense_variant,p.Cys44Tyr,ENST00000591572,;PPAP2C,5_prime_UTR_variant,,ENST00000434325,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,non_coding_transcript_exon_variant,,ENST00000589672,;	280	177	237	SUCCESS
ZNF529	57711	.	GRCh37	19	37045633	37045633	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	138	0	ENST00000591340.1:c.174T>C	p.Ser58=	p.S58=	ENST00000591340	NM_020951.4	58	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS54256.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAGAATC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF123,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000465578	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000591340	Transcript	.	.	ENSG00000186020	29328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN529_HUMAN	ZNF529	HGNC	K7ESA1_HUMAN,K7ELR0_HUMAN,K7EKM0_HUMAN	.	UPI00002021C4	SNV	ZNF529,synonymous_variant,p.%3D,ENST00000591340,;ZNF529,synonymous_variant,p.%3D,ENST00000585960,;ZNF529,synonymous_variant,p.%3D,ENST00000585983,;ZNF529,5_prime_UTR_variant,,ENST00000586115,;ZNF529,5_prime_UTR_variant,,ENST00000334116,;	333	138	128	SUCCESS
ZNF780B	163131	.	GRCh37	19	40540905	40540905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	23	96	0	ENST00000434248.1:c.1861G>A	p.Ala621Thr	p.A621T	ENST00000434248	NM_001005851.2	621	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46077.1	1861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCCTTGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF203,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000391641	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000434248	Transcript	.	.	ENSG00000128000	33109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	tolerated(0.34)	.	Z780B_HUMAN	ZNF780B	HGNC	M0R0W9_HUMAN,C9JTJ1_HUMAN	.	UPI000007137F	SNV	ZNF780B,missense_variant,p.Ala621Thr,ENST00000434248,;ZNF780B,missense_variant,p.Ala473Thr,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;	1927	96	129	SUCCESS
KIR2DL3	3804	.	GRCh37	19	55253690	55253690	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	30	0	ENST00000342376.3:c.335C>G	p.Ser112Ter	p.S112*	ENST00000342376	NM_015868.2	112	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS33107.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCAGCTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000342215	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000342376	Transcript	.	.	ENSG00000243772	6331	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI2L3_HUMAN	KIR2DL3	HGNC	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN	.	UPI000012DB1C	SNV	KIR2DL3,stop_gained,p.Ser112Ter,ENST00000342376,;KIR2DL3,stop_gained,p.Ser112Ter,ENST00000434419,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;CTB-61M7.1,intron_variant,,ENST00000400864,;	366	30	36	SUCCESS
NLRP7	199713	.	GRCh37	19	55450802	55450802	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146205567	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	26	147	0	ENST00000340844.2:c.1385G>A	p.Gly462Asp	p.G462D	ENST00000340844	NM_206828.3	462	gGc/gAc	0	A:0.0011	.	.	.	.	T	G/D	protein_coding	YES	CCDS46183.1	1385	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCTTTG	NONE	byCluster	.	hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106	.	A:0	ENSP00000467123	.	6/13	.	.	.	.	.	.	.	.	rs146205567	6/13	nonpreferredpair	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.28)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Gly462Asp,ENST00000590030,;NLRP7,missense_variant,p.Gly490Asp,ENST00000446217,;NLRP7,missense_variant,p.Gly462Asp,ENST00000588756,;NLRP7,missense_variant,p.Gly462Asp,ENST00000448121,;NLRP7,missense_variant,p.Gly462Asp,ENST00000328092,;NLRP7,missense_variant,p.Gly462Asp,ENST00000592784,;NLRP7,missense_variant,p.Gly462Asp,ENST00000340844,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Gly462Asp,ENST00000586379,;	1872	148	180	SUCCESS
SPAG17	200162	.	GRCh37	1	118635840	118635840	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs745689634	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	11	98	0	ENST00000336338.5:c.1112T>A	p.Leu371His	p.L371H	ENST00000336338	NM_206996.2	371	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS899.1	1112	MUTECT|MUSE	.	TAATAAGCTGC	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	8/49	.	.	.	.	.	.	.	.	rs745689634	8/49	nonpreferredpair	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Leu371His,ENST00000336338,;	1178	98	159	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145273364	145273364	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3139	146	2655	1	ENST00000369340.3:c.218C>G	p.Ser73Cys	p.S73C	ENST00000369340		73	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS909.1	218	MUTECT|MUSE	.	TGTGTCTCGAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF43,hmmpanther:PTHR24033,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000358346	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,missense_variant,p.Ser73Cys,ENST00000369340,;NOTCH2NL,missense_variant,p.Ser73Cys,ENST00000362074,;NOTCH2NL,missense_variant,p.Ser73Cys,ENST00000344859,;RP11-458D21.5,missense_variant,p.Ser73Cys,ENST00000468030,;	662	2656	3286	SUCCESS
FLG	2312	.	GRCh37	1	152277553	152277553	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147429418	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	429	60	287	0	ENST00000368799.1:c.9809G>A	p.Arg3270His	p.R3270H	ENST00000368799	NM_002016.1	3270	cGc/cAc	0	T:0.0005	T:0.0008	.	T:0	.	T	R/H	protein_coding	YES	CCDS30860.1	9809	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCGGTCT	NONE	byFrequency|byCluster|by1000G	.	.	T:0.0208	T:0.0001	ENSP00000357789	T:0	3/3	.	.	.	.	.	.	.	.	rs147429418	3/3	common_in_exac,nonpreferredpair	ENST00000368799	Transcript	.	T:0.0046	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	T:0.001	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Arg3270His,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	9845	287	489	SUCCESS
KIF21B	23046	.	GRCh37	1	200959773	200959773	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	15	67	1	ENST00000422435.2:c.2766G>T	p.Arg922=	p.R922=	ENST00000422435	NM_001252100.1	922	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS58056.1	2766	RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCCGTCG	NONE	.	.	hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115	.	.	ENSP00000411831	.	19/35	.	.	.	.	.	.	.	.	.	19/35	nonpreferredpair	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,synonymous_variant,p.%3D,ENST00000422435,;KIF21B,synonymous_variant,p.%3D,ENST00000360529,;KIF21B,synonymous_variant,p.%3D,ENST00000461742,;KIF21B,synonymous_variant,p.%3D,ENST00000332129,;	3083	68	159	SUCCESS
C1QA	712	.	GRCh37	1	22965369	22965369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	60	0	ENST00000374642.3:c.207C>A	p.Asp69Glu	p.D69E	ENST00000374642	NM_015991.2	69	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS226.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACCAGGG	NONE	.	.	hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF79,Pfam_domain:PF01391	.	.	ENSP00000363773	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000374642	Transcript	.	.	ENSG00000173372	1241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.3)	.	C1QA_HUMAN	C1QA	HGNC	.	.	UPI00000012E3	SNV	C1QA,missense_variant,p.Asp69Glu,ENST00000402322,;C1QA,missense_variant,p.Asp69Glu,ENST00000374642,;C1QA,missense_variant,p.Asp69Glu,ENST00000438241,;C1QC,upstream_gene_variant,,ENST00000374640,;C1QC,upstream_gene_variant,,ENST00000374637,;C1QC,upstream_gene_variant,,ENST00000374639,;	411	60	54	SUCCESS
AKT3	10000	.	GRCh37	1	243800994	243800994	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	31	0	ENST00000263826.5:c.480del	p.Val162LeufsTer15	p.V162Lfs*15	ENST00000263826	NM_005465.4	160	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS31077.1	480	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTTTCCCAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF29,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000355497	.	6/14	.	.	.	.	.	.	.	.	.	6/14	nonpreferredpair	ENST00000366539	Transcript	.	.	ENSG00000117020	393	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKT3_HUMAN	AKT3	HGNC	F8VS91_HUMAN	.	UPI00000335E8	deletion	AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000263826,;AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000366539,;AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000336199,;AKT3,frameshift_variant,p.Val162LeufsTer15,ENST00000366540,;	681	31	75	SUCCESS
RNF11	26994	.	GRCh37	1	51702468	51702468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	37	152	1	ENST00000242719.3:c.40T>A	p.Ser14Thr	p.S14T	ENST00000242719	NM_014372.4	14	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS556.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTCCCTG	NONE	.	.	hmmpanther:PTHR22764,hmmpanther:PTHR22764:SF54	.	.	ENSP00000242719	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000242719	Transcript	.	.	ENSG00000123091	10056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.17)	.	RNF11_HUMAN	RNF11	HGNC	.	.	UPI000000DC27	SNV	RNF11,missense_variant,p.Ser14Thr,ENST00000242719,;RP11-296A18.3,upstream_gene_variant,,ENST00000366181,;RNF11,non_coding_transcript_exon_variant,,ENST00000494873,;	526	153	181	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42143124	42143124	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	100	0	ENST00000427442.2:c.295-151G>A		p.*99*	ENST00000427442				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46602.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGTAGCT	NONE	.	.	.	.	.	ENSP00000402107	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	.	.	MODIFIER	3/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	SNV	L3MBTL1,5_prime_UTR_variant,,ENST00000444063,;L3MBTL1,5_prime_UTR_variant,,ENST00000373135,;L3MBTL1,intron_variant,,ENST00000439769,;L3MBTL1,intron_variant,,ENST00000434666,;L3MBTL1,intron_variant,,ENST00000427442,;L3MBTL1,intron_variant,,ENST00000418998,;L3MBTL1,upstream_gene_variant,,ENST00000373134,;L3MBTL1,upstream_gene_variant,,ENST00000473981,;L3MBTL1,upstream_gene_variant,,ENST00000457824,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000468336,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000473289,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000430781,;	.	100	79	SUCCESS
ADNP	23394	.	GRCh37	20	49508933	49508934	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	168	41	185	0	ENST00000349014.3:c.2317_2318del	p.Lys773ValfsTer14	p.K773Vfs*14	ENST00000349014	NM_001282532.1	773	AAg/g	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS13433.1	2317-2318	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATACTTTGTTA	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740,PROSITE_profiles:PS50071	.	.	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	deletion	ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000396032,;ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000396029,;ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000349014,;ADNP,frameshift_variant,p.Lys773ValfsTer14,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	2885-2886	185	209	SUCCESS
HRH3	11255	.	GRCh37	20	60791450	60791450	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200015061	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	37	0	ENST00000340177.5:c.950C>T	p.Pro317Leu	p.P317L	ENST00000340177	NM_007232.2	317	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS13493.1	950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGGCCTC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF242,hmmpanther:PTHR24249,Pfam_domain:PF00001	A:0	.	ENSP00000342560	A:0.001	3/3	.	.	.	.	.	.	.	.	rs200015061	3/3	nonpreferredpair	ENST00000340177	Transcript	.	A:0.0002	ENSG00000101180	5184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	A:0	deleterious(0.03)	.	HRH3_HUMAN	HRH3	HGNC	.	.	UPI000012C6ED	SNV	HRH3,missense_variant,p.Pro317Leu,ENST00000317393,;HRH3,missense_variant,p.Pro317Leu,ENST00000340177,;	1235	37	23	SUCCESS
LAMA5	3911	.	GRCh37	20	60887087	60887087	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772698717	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	54	0	ENST00000252999.3:c.9524C>T	p.Ser3175Phe	p.S3175F	ENST00000252999	NM_005560.4	3175	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS33502.1	9524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGACACC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000252999	.	70/80	.	.	.	.	.	.	.	.	rs772698717	70/80	nonpreferredpair	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Ser3175Phe,ENST00000252999,;ADRM1,downstream_gene_variant,,ENST00000253003,;LAMA5,upstream_gene_variant,,ENST00000492698,;LAMA5,missense_variant,p.Ser340Phe,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000462415,;LAMA5,non_coding_transcript_exon_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000468786,;LAMA5,downstream_gene_variant,,ENST00000471042,;	9591	54	54	SUCCESS
MYT1	4661	.	GRCh37	20	62850235	62850235	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	61	0	ENST00000328439.1:c.1847-29T>C		p.*616*	ENST00000328439	NM_004535.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATGTGAG	NONE	.	.	.	.	.	ENSP00000327465	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODIFIER	11/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,synonymous_variant,p.%3D,ENST00000536311,;MYT1,intron_variant,,ENST00000360149,;MYT1,intron_variant,,ENST00000328439,;	.	61	80	SUCCESS
TTN	7273	.	GRCh37	2	179576711	179576711	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs182355009	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	29	201	0	ENST00000591111.1:c.26895C>G	p.Ser8965Arg	p.S8965R	ENST00000591111		8965	agC/agG	0	.	A:0	.	A:0.0043	.	C	S/R	protein_coding	YES	CCDS59435.1	27846	RADIA|MUSE|VARSCANS	likely_benign	CCCACGCTGTT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0	.	ENSP00000467141	A:0	96/363	.	.	.	.	.	.	.	.	rs182355009	96/363	nonpreferredpair	ENST00000589042	Transcript	.	A:0.0006	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	.	A:0	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser8038Arg,ENST00000342992,;TTN,missense_variant,p.Ser9282Arg,ENST00000589042,;TTN,missense_variant,p.Ser8965Arg,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	28071	201	214	SUCCESS
DNAH7	56171	.	GRCh37	2	196740508	196740508	+	synonymous_variant	Silent	SNP	G	G	T	rs1481811478	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	38	195	0	ENST00000312428.6:c.6177C>A	p.Pro2059=	p.P2059=	ENST00000312428	NM_018897.2	2059	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42794.1	6177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGGGAGG	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	38/65	.	.	.	.	.	.	.	.	.	38/65	nonpreferredpair	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;	6278	195	183	SUCCESS
SNED1	25992	.	GRCh37	2	242004719	242004719	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	14	66	0	ENST00000310397.8:c.2718C>T	p.Leu906=	p.L906=	ENST00000310397	NM_001080437.1	906	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46562.1	2718	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCTTCCC	NONE	.	.	hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,SMART_domains:SM00060	.	.	ENSP00000308893	.	21/32	.	.	.	.	.	.	.	.	.	21/32	nonpreferredpair	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,synonymous_variant,p.%3D,ENST00000405547,;SNED1,synonymous_variant,p.%3D,ENST00000342631,;SNED1,synonymous_variant,p.%3D,ENST00000310397,;SNED1,synonymous_variant,p.%3D,ENST00000401884,;AC005237.4,upstream_gene_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000466618,;	2718	66	98	SUCCESS
IGSF10	285313	.	GRCh37	3	151166486	151166486	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	68	0	ENST00000282466.3:c.1283G>T	p.Trp428Leu	p.W428L	ENST00000282466	NM_178822.4	428	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS3160.1	1283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACCAAGAG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29	.	.	ENSP00000282466	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Trp428Leu,ENST00000282466,;	1283	68	75	SUCCESS
ALG3	10195	.	GRCh37	3	183960448	183960448	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	28	185	0	ENST00000397676.3:c.1171C>T	p.Leu391Phe	p.L391F	ENST00000397676	NM_005787.5	391	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS46968.1	1171	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12646:SF0,hmmpanther:PTHR12646,Pfam_domain:PF05208	.	.	ENSP00000380793	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000397676	Transcript	.	.	ENSG00000214160	23056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	ALG3_HUMAN	ALG3	HGNC	.	.	UPI0000125838	SNV	ALG3,missense_variant,p.Leu295Phe,ENST00000446569,;ALG3,missense_variant,p.Leu335Phe,ENST00000418734,;ALG3,missense_variant,p.Leu343Phe,ENST00000445626,;ALG3,missense_variant,p.Leu351Phe,ENST00000455059,;ALG3,missense_variant,p.Leu391Phe,ENST00000397676,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,downstream_gene_variant,,ENST00000273794,;VWA5B2,downstream_gene_variant,,ENST00000426955,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;ALG3,3_prime_UTR_variant,,ENST00000411922,;ALG3,non_coding_transcript_exon_variant,,ENST00000485912,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;VWA5B2,downstream_gene_variant,,ENST00000461141,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	1202	185	183	SUCCESS
COL7A1	1294	.	GRCh37	3	48610139	48610139	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	17	110	0	ENST00000328333.8:c.6865A>T	p.Lys2289Ter	p.K2289*	ENST00000328333	NM_000094.3	2289	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2773.1	6865	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTAGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	87/118	.	.	.	.	.	.	.	.	.	87/118	nonpreferredpair	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,stop_gained,p.Lys2289Ter,ENST00000328333,;COL7A1,stop_gained,p.Lys2257Ter,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000462475,;	6973	110	131	SUCCESS
KBTBD8	84541	.	GRCh37	3	67054129	67054129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	63	0	ENST00000417314.2:c.738A>T	p.Glu246Asp	p.E246D	ENST00000417314		246	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS2906.2	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAAGATAC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000401878	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000417314	Transcript	.	.	ENSG00000163376	30691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.56)	.	KBTB8_HUMAN	KBTBD8	HGNC	C9JAA6_HUMAN,C9J331_HUMAN	.	UPI0000209974	SNV	KBTBD8,missense_variant,p.Glu246Asp,ENST00000417314,;KBTBD8,missense_variant,p.Glu220Asp,ENST00000295568,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,downstream_gene_variant,,ENST00000484414,;KBTBD8,non_coding_transcript_exon_variant,,ENST00000469661,;	787	63	52	SUCCESS
DCBLD2	131566	.	GRCh37	3	98541530	98541530	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	50	213	0	ENST00000326840.6:c.679C>T	p.Pro227Ser	p.P227S	ENST00000326840	NM_080927.3	227	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS46878.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGGAATTG	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF571,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000321573	.	5/16	.	.	.	.	.	.	.	.	.	5/16	nonpreferredpair	ENST00000326840	Transcript	.	.	ENSG00000057019	24627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.31)	.	DCBD2_HUMAN	DCBLD2	HGNC	B7Z7Y3_HUMAN	.	UPI0000072ABB	SNV	DCBLD2,missense_variant,p.Pro227Ser,ENST00000326840,;DCBLD2,missense_variant,p.Pro227Ser,ENST00000326857,;DCBLD2,non_coding_transcript_exon_variant,,ENST00000469648,;ST3GAL6,downstream_gene_variant,,ENST00000491912,;ST3GAL6,downstream_gene_variant,,ENST00000495502,;DCBLD2,downstream_gene_variant,,ENST00000486004,;DCBLD2,upstream_gene_variant,,ENST00000460008,;DCBLD2,upstream_gene_variant,,ENST00000479144,;	1042	213	261	SUCCESS
ATP10D	57205	.	GRCh37	4	47517533	47517533	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	126	0	ENST00000273859.3:c.331T>C	p.Trp111Arg	p.W111R	ENST00000273859	NM_020453.3	111	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS3476.1	331	RADIA|MUTECT|MUSE|VARSCANS	.	TGAACTGGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000273859	.	3/23	.	.	.	.	.	.	.	.	.	3/23	nonpreferredpair	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,missense_variant,p.Trp111Arg,ENST00000504445,;ATP10D,missense_variant,p.Trp111Arg,ENST00000273859,;ATP10D,downstream_gene_variant,,ENST00000507889,;	600	126	123	SUCCESS
EPHA5	2044	.	GRCh37	4	66197603	66197603	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	15	0	ENST00000273854.3:c.3008+88G>T		p.*1003*	ENST00000273854	NM_004439.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3513.1	.	MUTECT|MUSE	.	GTTAACTGATT	NONE	.	.	.	.	.	ENSP00000273854	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODIFIER	17/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,3_prime_UTR_variant,,ENST00000511294,;EPHA5,intron_variant,,ENST00000273854,;EPHA5,intron_variant,,ENST00000432638,;EPHA5,intron_variant,,ENST00000354839,;	.	15	11	SUCCESS
FRAS1	80144	.	GRCh37	4	79238646	79238646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	88	0	ENST00000264895.6:c.1944C>A	p.Asp648Glu	p.D648E	ENST00000264895	NM_025074.6	648	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS54771.1	1944	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACCATGG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184	.	.	ENSP00000264895	.	17/74	.	.	.	.	.	.	.	.	.	17/74	nonpreferredpair	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Asp577Glu,ENST00000502446,;FRAS1,missense_variant,p.Asp648Glu,ENST00000325942,;FRAS1,missense_variant,p.Asp648Glu,ENST00000264899,;FRAS1,missense_variant,p.Asp648Glu,ENST00000264895,;FRAS1,missense_variant,p.Asp491Glu,ENST00000508900,;	2384	88	79	SUCCESS
PCDHGC5	56097	.	GRCh37	5	140869878	140869878	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	32	122	0	ENST00000252087.1:c.1071C>T	p.Asn357=	p.N357=	ENST00000252087	NM_018929.2	357	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS4263.1	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACCCTGT	NONE	.	.	hmmpanther:PTHR24028:SF80,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000252087	.	1/4	.	.	.	.	.	.	.	.	COSM590561,COSM590562	1/4	nonpreferredpair	ENST00000252087	Transcript	.	.	ENSG00000240764	8718	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PCDGM_HUMAN	PCDHGC5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006D689	SNV	PCDHGC5,synonymous_variant,p.%3D,ENST00000252087,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGC3,intron_variant,,ENST00000308177,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGC4,intron_variant,,ENST00000306593,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;	1071	122	140	SUCCESS
SLC6A3	6531	.	GRCh37	5	1409893	1409893	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	30	155	0	ENST00000270349.9:c.1341C>T	p.Leu447=	p.L447=	ENST00000270349	NM_001044.4	447	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3863.1	1341	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGAGCTC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,synonymous_variant,p.%3D,ENST00000270349,;SLC6A3,synonymous_variant,p.%3D,ENST00000453492,;SLC6A3,downstream_gene_variant,,ENST00000511750,;	1469	155	171	SUCCESS
ZNF454	285676	.	GRCh37	5	178391688	178391688	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	38	130	0	ENST00000320129.3:c.283A>G	p.Thr95Ala	p.T95A	ENST00000320129	NM_182594.2	95	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS4441.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTACTGTC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF221	.	.	ENSP00000326249	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000320129	Transcript	.	.	ENSG00000178187	21200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	ZN454_HUMAN	ZNF454	HGNC	.	.	UPI00001407C7	SNV	ZNF454,missense_variant,p.Thr95Ala,ENST00000519564,;ZNF454,missense_variant,p.Thr95Ala,ENST00000320129,;RP11-281O15.4,upstream_gene_variant,,ENST00000519491,;	586	130	120	SUCCESS
MEF2C	4208	.	GRCh37	5	88119628	88119628	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	66	0	ENST00000437473.2:c.-23G>C		p.*8*	ENST00000437473	NM_001193350.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54878.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCTCGTC	NONE	.	.	.	.	.	ENSP00000340874	.	3/12	.	.	.	.	.	.	.	.	.	3/12	nonpreferredpair	ENST00000340208	Transcript	1	.	ENSG00000081189	6996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEF2C_HUMAN	MEF2C	HGNC	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG14_HUMAN	.	UPI0000D9B539	SNV	MEF2C,5_prime_UTR_variant,,ENST00000504921,;MEF2C,5_prime_UTR_variant,,ENST00000510942,;MEF2C,5_prime_UTR_variant,,ENST00000514015,;MEF2C,5_prime_UTR_variant,,ENST00000507984,;MEF2C,5_prime_UTR_variant,,ENST00000506554,;MEF2C,5_prime_UTR_variant,,ENST00000437473,;MEF2C,5_prime_UTR_variant,,ENST00000502983,;MEF2C,5_prime_UTR_variant,,ENST00000513252,;MEF2C,5_prime_UTR_variant,,ENST00000503075,;MEF2C,5_prime_UTR_variant,,ENST00000509373,;MEF2C,5_prime_UTR_variant,,ENST00000514028,;MEF2C,5_prime_UTR_variant,,ENST00000508610,;MEF2C,5_prime_UTR_variant,,ENST00000502831,;MEF2C,5_prime_UTR_variant,,ENST00000340208,;MEF2C,5_prime_UTR_variant,,ENST00000424173,;MEF2C,5_prime_UTR_variant,,ENST00000508569,;MEF2C,5_prime_UTR_variant,,ENST00000506716,;MEF2C,upstream_gene_variant,,ENST00000539796,;MEF2C,non_coding_transcript_exon_variant,,ENST00000515093,;MEF2C,downstream_gene_variant,,ENST00000509349,;MEF2C,non_coding_transcript_exon_variant,,ENST00000511086,;	384	66	64	SUCCESS
HLA-DMB	3109	.	GRCh37	6	32904957	32904957	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs548257449	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	64	156	1	ENST00000418107.2:c.614G>A	p.Arg205Gln	p.R205Q	ENST00000418107	NM_002118.4	205	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS4760.1	614	RADIA|MUTECT|MUSE	.	AGTCCCGAAGG	NONE	by1000G	.	hmmpanther:PTHR19944:SF51,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	T:0.001	.	ENSP00000398890	T:0	3/6	.	.	.	.	.	.	.	.	rs548257449	3/6	nonpreferredpair	ENST00000418107	Transcript	.	T:0.0002	ENSG00000242574	4935	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	T:0	tolerated(0.94)	.	DMB_HUMAN	HLA-DMB	HGNC	B4DVC2_HUMAN	.	UPI0000140DCC	SNV	HLA-DMB,missense_variant,p.Arg205Gln,ENST00000416244,;HLA-DMB,missense_variant,p.Arg95Gln,ENST00000414017,;HLA-DMB,missense_variant,p.Arg87Gln,ENST00000438510,;HLA-DMB,missense_variant,p.Arg205Gln,ENST00000418107,;XXbac-BPG181M17.5,downstream_gene_variant,,ENST00000429234,;AL645941.1,upstream_gene_variant,,ENST00000390777,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000498020,;HLA-DMB,upstream_gene_variant,,ENST00000487996,;HLA-DMB,upstream_gene_variant,,ENST00000477537,;	877	157	241	SUCCESS
PRIM2	5558	.	GRCh37	6	57393119	57393119	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	42	0	ENST00000607273.1:c.769T>A	p.Tyr257Asn	p.Y257N	ENST00000607273	NM_000947.3	257	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	.	769	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCTACACT	NONE	.	.	hmmpanther:PTHR10537:SF3,hmmpanther:PTHR10537,Pfam_domain:PF04104	.	.	ENSP00000475738	.	9/14	.	.	.	.	.	.	.	.	.	9/14	nonpreferredpair	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,missense_variant,p.Tyr257Asn,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000470638,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;PRIM2,non_coding_transcript_exon_variant,,ENST00000550475,;	856	42	29	SUCCESS
RIMS2	9699	.	GRCh37	8	104897822	104897822	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	11	106	0	ENST00000406091.3:c.995G>T	p.Arg332Leu	p.R332L	ENST00000406091	NM_001100117.2	332	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS55269.1	995	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGCTACC	BUFFER|p.R112Q|c.335G>A|3,BUFFER|p.R142Q|c.425G>A|3,BUFFER|p.R370Q|c.1109G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	4/24	.	.	.	.	.	.	.	.	COSM603283,COSM603282,COSM1144695,COSM603281,COSM1144696	4/24	nonpreferredpair	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,missense_variant,p.Arg332Leu,ENST00000406091,;RIMS2,missense_variant,p.Arg140Leu,ENST00000408894,;RIMS2,missense_variant,p.Arg332Leu,ENST00000504942,;RIMS2,missense_variant,p.Arg140Leu,ENST00000507740,;RIMS2,missense_variant,p.Arg140Leu,ENST00000262231,;RIMS2,missense_variant,p.Arg140Leu,ENST00000515551,;RIMS2,missense_variant,p.Arg110Leu,ENST00000436393,;RIMS2,non_coding_transcript_exon_variant,,ENST00000522174,;	995	106	90	SUCCESS
MED27	9442	.	GRCh37	9	134738510	134738510	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	29	141	1	ENST00000292035.5:c.741C>T	p.Thr247=	p.T247=	ENST00000292035	NM_004269.3	247	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6945.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGGTGGC	NONE	.	.	Pfam_domain:PF11571,hmmpanther:PTHR13130,hmmpanther:PTHR13130:SF4	.	.	ENSP00000292035	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000292035	Transcript	.	.	ENSG00000160563	2377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED27_HUMAN	MED27	HGNC	U4Q365_HUMAN	.	UPI0000161234	SNV	MED27,synonymous_variant,p.%3D,ENST00000292035,;MED27,synonymous_variant,p.%3D,ENST00000357028,;	805	142	164	SUCCESS
RPL7A	6130	.	GRCh37	9	136216457	136216457	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782417066	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	39	115	0	ENST00000323345.6:c.176G>A	p.Arg59His	p.R59H	ENST00000323345	NM_000972.2	59	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6965.1	176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCTATA	NONE	.	.	hmmpanther:PTHR23105:SF29,hmmpanther:PTHR23105,Prints_domain:PR00882	.	.	ENSP00000361076	.	3/8	.	.	.	.	.	.	.	.	rs782417066	3/8	nonpreferredpair	ENST00000323345	Transcript	.	.	ENSG00000148303	10364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.41)	.	RL7A_HUMAN	RPL7A	HGNC	Q9BY74_HUMAN	.	UPI0000001619	SNV	RPL7A,missense_variant,p.Arg86His,ENST00000426651,;RPL7A,missense_variant,p.Arg59His,ENST00000323345,;RPL7A,synonymous_variant,p.%3D,ENST00000315731,;SURF1,downstream_gene_variant,,ENST00000371974,;MED22,upstream_gene_variant,,ENST00000476080,;MED22,upstream_gene_variant,,ENST00000344469,;MED22,upstream_gene_variant,,ENST00000491289,;MED22,upstream_gene_variant,,ENST00000343730,;MED22,upstream_gene_variant,,ENST00000494177,;MED22,upstream_gene_variant,,ENST00000446777,;MED22,upstream_gene_variant,,ENST00000371999,;MED22,upstream_gene_variant,,ENST00000457204,;SNORD36C,upstream_gene_variant,,ENST00000516733,;SNORD24,downstream_gene_variant,,ENST00000383884,;SNORD36A,upstream_gene_variant,,ENST00000362874,;SNORD36B,upstream_gene_variant,,ENST00000363961,;RPL7A,non_coding_transcript_exon_variant,,ENST00000496554,;RPL7A,non_coding_transcript_exon_variant,,ENST00000468019,;RPL7A,non_coding_transcript_exon_variant,,ENST00000485706,;RPL7A,non_coding_transcript_exon_variant,,ENST00000489392,;RPL7A,non_coding_transcript_exon_variant,,ENST00000463740,;SURF1,downstream_gene_variant,,ENST00000495952,;MED22,upstream_gene_variant,,ENST00000471524,;RPL7A,upstream_gene_variant,,ENST00000492798,;SURF1,downstream_gene_variant,,ENST00000437995,;MED22,upstream_gene_variant,,ENST00000482295,;	206	115	157	SUCCESS
TEK	7010	.	GRCh37	9	27206595	27206595	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	11	98	0	ENST00000380036.4:c.2380G>C	p.Val794Leu	p.V794L	ENST00000380036	NM_000459.3	794	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS6519.1	2380	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGTGCAG	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416	.	.	ENSP00000369375	.	15/23	.	.	.	.	.	.	.	.	.	15/23	nonpreferredpair	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(1)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Val751Leu,ENST00000406359,;TEK,missense_variant,p.Val646Leu,ENST00000519097,;TEK,missense_variant,p.Val794Leu,ENST00000380036,;TEK,downstream_gene_variant,,ENST00000519080,;RP11-179D22.1,upstream_gene_variant,,ENST00000422804,;	2822	98	102	SUCCESS
PRKACG	5568	.	GRCh37	9	71628907	71628907	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	3	70	0	ENST00000377276.2:c.102C>T	p.Pro34=	p.P34=	ENST00000377276	NM_002732.3	34	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6625.1	102	MUTECT|MUSE	.	TGAGCGGGGTT	NONE	.	.	Superfamily_domains:SSF56112,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF53	.	.	ENSP00000366488	.	1/1	.	.	.	.	.	.	.	.	COSM1263044	1/1	nonpreferredpair	ENST00000377276	Transcript	.	.	ENSG00000165059	9382	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	KAPCG_HUMAN	PRKACG	HGNC	.	.	UPI000013E448	SNV	PRKACG,synonymous_variant,p.%3D,ENST00000377276,;PIP5K1B,downstream_gene_variant,,ENST00000265382,;PIP5K1B,downstream_gene_variant,,ENST00000478500,;	133	70	68	SUCCESS
VPS13A	23230	.	GRCh37	9	79983032	79983032	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	51	0	ENST00000360280.3:c.8533A>C	p.Ile2845Leu	p.I2845L	ENST00000360280	NM_033305.2	2845	Ata/Cta	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS6655.1	8533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATAAGA	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	62/72	.	.	.	.	.	.	.	.	.	62/72	nonpreferredpair	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.1)	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,missense_variant,p.Ile2845Leu,ENST00000357409,;VPS13A,missense_variant,p.Ile2845Leu,ENST00000376634,;VPS13A,missense_variant,p.Ile2806Leu,ENST00000376636,;VPS13A,missense_variant,p.Ile2845Leu,ENST00000360280,;	8793	51	37	SUCCESS
ZNF169	169841	.	GRCh37	9	97055385	97055385	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	82	0	ENST00000395395.2:c.256+34G>A		p.*86*	ENST00000395395	NM_194320.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6709.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGGGCAG	NONE	.	.	.	.	.	ENSP00000378792	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000395395	Transcript	.	.	ENSG00000175787	12957	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN169_HUMAN	ZNF169	HGNC	.	.	UPI00001C1EC1	SNV	ZNF169,missense_variant,p.Arg97Lys,ENST00000481550,;ZNF169,intron_variant,,ENST00000480716,;ZNF169,intron_variant,,ENST00000375354,;ZNF169,intron_variant,,ENST00000395395,;ZNF169,intron_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000492115,;VDAC1P11,upstream_gene_variant,,ENST00000458323,;	.	82	92	SUCCESS
DNASE1L1	1774	.	GRCh37	X	153633194	153633194	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	52	219	0	ENST00000014935.3:c.286A>G	p.Met96Val	p.M96V	ENST00000014935		96	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS14747.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATGTAGG	NONE	.	.	hmmpanther:PTHR11371:SF22,hmmpanther:PTHR11371,Pfam_domain:PF03372,Gene3D:3.60.10.10,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219	.	.	ENSP00000358824	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000369809	Transcript	.	.	ENSG00000013563	2957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	deleterious(0.03)	.	DNSL1_HUMAN	DNASE1L1	HGNC	Q5HY40_HUMAN,A6QRJ0_HUMAN,A3KQT1_HUMAN	.	UPI0000129891	SNV	DNASE1L1,missense_variant,p.Met96Val,ENST00000369808,;DNASE1L1,missense_variant,p.Met96Val,ENST00000309585,;DNASE1L1,missense_variant,p.Met96Val,ENST00000369809,;DNASE1L1,missense_variant,p.Met96Val,ENST00000451865,;DNASE1L1,missense_variant,p.Met96Val,ENST00000424626,;DNASE1L1,missense_variant,p.Met96Val,ENST00000014935,;DNASE1L1,missense_variant,p.Met96Val,ENST00000369807,;DNASE1L1,missense_variant,p.Met96Val,ENST00000393638,;DNASE1L1,intron_variant,,ENST00000447892,;RPL10,intron_variant,,ENST00000428169,;DNASE1L1,intron_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000344746,;RPL10,downstream_gene_variant,,ENST00000406022,;RPL10,downstream_gene_variant,,ENST00000449494,;RPL10,downstream_gene_variant,,ENST00000436473,;RPL10,downstream_gene_variant,,ENST00000427682,;RPL10,downstream_gene_variant,,ENST00000369817,;RPL10,downstream_gene_variant,,ENST00000458500,;RPL10,downstream_gene_variant,,ENST00000451365,;RPL10,downstream_gene_variant,,ENST00000424325,;SNORA70,downstream_gene_variant,,ENST00000384436,;DNASE1L1,upstream_gene_variant,,ENST00000497242,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000474786,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000492572,;	916	219	258	SUCCESS
MPP1	4354	.	GRCh37	X	154010040	154010040	+	synonymous_variant	Silent	SNP	C	C	T	rs782091002	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	57	246	0	ENST00000369534.3:c.984G>A	p.Gly328=	p.G328=	ENST00000369534	NM_001166461.1	328	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14762.1	984	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCCATC	NONE	byFrequency	.	PROSITE_profiles:PS50052,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,PROSITE_patterns:PS00856,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540	.	.	ENSP00000358547	.	10/12	.	.	.	.	.	.	.	.	rs782091002	10/12	nonpreferredpair	ENST00000369534	Transcript	.	.	ENSG00000130830	7219	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EM55_HUMAN	MPP1	HGNC	A8MTH1_HUMAN	.	UPI0000129E86	SNV	MPP1,synonymous_variant,p.%3D,ENST00000393531,;MPP1,synonymous_variant,p.%3D,ENST00000413259,;MPP1,synonymous_variant,p.%3D,ENST00000453245,;MPP1,synonymous_variant,p.%3D,ENST00000369534,;DKC1,downstream_gene_variant,,ENST00000369550,;MPP1,downstream_gene_variant,,ENST00000393529,;MPP1,downstream_gene_variant,,ENST00000428488,;DKC1,downstream_gene_variant,,ENST00000492372,;MPP1,downstream_gene_variant,,ENST00000488754,;MPP1,downstream_gene_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000488694,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,non_coding_transcript_exon_variant,,ENST00000491955,;MPP1,upstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000417435,;MPP1,downstream_gene_variant,,ENST00000493871,;MPP1,downstream_gene_variant,,ENST00000494170,;MPP1,downstream_gene_variant,,ENST00000475943,;	1132	246	318	SUCCESS
BMP15	9210	.	GRCh37	X	50658924	50658924	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	295	48	282	0	ENST00000252677.3:c.496T>A	p.Ser166Thr	p.S166T	ENST00000252677	NM_005448.2	166	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS14334.1	496	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTTCCTCA	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22	.	.	ENSP00000252677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000252677	Transcript	.	.	ENSG00000130385	1068	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.66)	.	BMP15_HUMAN	BMP15	HGNC	.	.	UPI000013CD7C	SNV	BMP15,missense_variant,p.Ser166Thr,ENST00000252677,;	496	282	343	SUCCESS
RIBC1	158787	.	GRCh37	X	53457369	53457369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782066146	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	257	56	276	1	ENST00000375327.3:c.689G>A	p.Arg230His	p.R230H	ENST00000375327	NM_001031745.3	230	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS35299.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGCTGTG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05914,hmmpanther:PTHR14517:SF8,hmmpanther:PTHR14517	.	.	ENSP00000364476	.	7/8	.	.	.	.	.	.	.	.	rs782066146	7/8	nonpreferredpair	ENST00000375327	Transcript	.	.	ENSG00000158423	26537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.33)	.	RIBC1_HUMAN	RIBC1	HGNC	.	.	UPI0000049C83	SNV	RIBC1,missense_variant,p.Arg115His,ENST00000414955,;RIBC1,missense_variant,p.Arg230His,ENST00000375327,;HSD17B10,downstream_gene_variant,,ENST00000375304,;RIBC1,downstream_gene_variant,,ENST00000329209,;HSD17B10,downstream_gene_variant,,ENST00000375298,;RIBC1,downstream_gene_variant,,ENST00000457095,;HSD17B10,downstream_gene_variant,,ENST00000168216,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;HSD17B10,downstream_gene_variant,,ENST00000477706,;RIBC1,downstream_gene_variant,,ENST00000490702,;HSD17B10,downstream_gene_variant,,ENST00000495986,;	842	277	313	SUCCESS
SLC18A2	6571	.	GRCh37	10	119003680	119003680	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	18	147	0	ENST00000298472.5:c.320T>C	p.Val107Ala	p.V107A	ENST00000298472	NM_003054.4	107	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7599.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTGACCA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF63,Pfam_domain:PF07690	.	.	ENSP00000298472	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000298472	Transcript	1	.	ENSG00000165646	10935	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.34)	.	VMAT2_HUMAN	SLC18A2	HGNC	.	.	UPI00001389DE	SNV	SLC18A2,missense_variant,p.Val107Ala,ENST00000298472,;RP11-501J20.5,upstream_gene_variant,,ENST00000425264,;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	463	148	158	SUCCESS
DOCK1	1793	.	GRCh37	10	128796464	128796464	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	54	208	1	ENST00000280333.6:c.718G>A	p.Ala240Thr	p.A240T	ENST00000280333	NM_001380.3	240	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGCTGAA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79	.	.	ENSP00000280333	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious(0.03)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Ala240Thr,ENST00000280333,;RP11-223P11.3,downstream_gene_variant,,ENST00000601826,;RP11-223P11.3,downstream_gene_variant,,ENST00000595456,;RP11-223P11.3,downstream_gene_variant,,ENST00000594559,;RP11-223P11.3,downstream_gene_variant,,ENST00000594614,;RP11-223P11.3,downstream_gene_variant,,ENST00000601242,;	827	209	193	SUCCESS
DOCK1	1793	.	GRCh37	10	129216713	129216713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	69	0	ENST00000280333.6:c.4537G>T	p.Asp1513Tyr	p.D1513Y	ENST00000280333	NM_001380.3	1513	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	4537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGATGAC	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Pfam_domain:PF06920	.	.	ENSP00000280333	.	45/52	.	.	.	.	.	.	.	.	.	45/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.08)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Asp1513Tyr,ENST00000280333,;	4646	70	86	SUCCESS
CXCL12	6387	.	GRCh37	10	44874043	44874043	+	intron_variant	Intron	SNP	G	G	T	rs760442279	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	90	0	ENST00000374429.2:c.266+42C>A		p.*89*	ENST00000374429	NM_000609.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53527.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGAGTGG	NONE	.	.	.	.	.	ENSP00000379140	.	.	.	.	.	.	.	.	.	.	rs760442279	.	PASS	ENST00000395794	Transcript	.	.	ENSG00000107562	10672	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SDF1_HUMAN	CXCL12	HGNC	.	.	UPI0000684849	SNV	CXCL12,3_prime_UTR_variant,,ENST00000343575,;CXCL12,intron_variant,,ENST00000395795,;CXCL12,intron_variant,,ENST00000374426,;CXCL12,intron_variant,,ENST00000395793,;AL137026.1,intron_variant,,ENST00000593376,;CXCL12,intron_variant,,ENST00000395794,;CXCL12,intron_variant,,ENST00000374429,;CXCL12,non_coding_transcript_exon_variant,,ENST00000496375,;CXCL12,downstream_gene_variant,,ENST00000488591,;	.	90	86	SUCCESS
AKR1E2	83592	.	GRCh37	10	4875659	4875659	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	53	214	0	ENST00000298375.7:c.324+1G>T		p.X108_splice	ENST00000298375	NM_001040177.2	108		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31134.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTACCG	NONE	.	.	.	.	.	ENSP00000298375	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,splice_donor_variant,,ENST00000345253,;AKR1E2,splice_donor_variant,,ENST00000334019,;AKR1E2,splice_donor_variant,,ENST00000533295,;AKR1E2,splice_donor_variant,,ENST00000532248,;AKR1E2,splice_donor_variant,,ENST00000298375,;AKR1E2,splice_donor_variant,,ENST00000462718,;AKR1E2,splice_donor_variant,,ENST00000525627,;AKR1E2,splice_donor_variant,,ENST00000441590,;AKR1E2,intron_variant,,ENST00000525281,;AKR1E2,splice_donor_variant,,ENST00000463345,;AKR1E2,splice_donor_variant,,ENST00000474119,;AKR1E2,missense_variant,p.Val24Leu,ENST00000525572,;	.	214	249	SUCCESS
CHAT	1103	.	GRCh37	10	50863255	50863255	+	synonymous_variant	Silent	SNP	C	C	T	rs201580702	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	58	112	0	ENST00000337653.2:c.1749C>T	p.Ala583=	p.A583=	ENST00000337653	NM_020549.4	583	gcC/gcT	0	.	G:0	.	G:0.0029	.	T	A	protein_coding	YES	CCDS7232.1	1749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCGTGAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589,Pfam_domain:PF00755,Superfamily_domains:SSF52777	G:0	.	ENSP00000337103	G:0	12/15	.	.	.	.	.	.	.	.	rs201580702	12/15	PASS	ENST00000337653	Transcript	1	G:0.0004	ENSG00000070748	1912	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,synonymous_variant,p.%3D,ENST00000351556,;CHAT,synonymous_variant,p.%3D,ENST00000395562,;CHAT,synonymous_variant,p.%3D,ENST00000395559,;CHAT,synonymous_variant,p.%3D,ENST00000339797,;CHAT,synonymous_variant,p.%3D,ENST00000455728,;CHAT,synonymous_variant,p.%3D,ENST00000337653,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	1902	112	177	SUCCESS
GHITM	27069	.	GRCh37	10	85909939	85909939	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	16	104	0	ENST00000372134.3:c.721T>C	p.Phe241Leu	p.F241L	ENST00000372134	NM_014394.2	241	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS41542.1	721	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTTTCTG	NONE	.	.	Pfam_domain:PF01027,hmmpanther:PTHR23291:SF32,hmmpanther:PTHR23291,Transmembrane_helices:TMhelix	.	.	ENSP00000361207	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000372134	Transcript	.	.	ENSG00000165678	17281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.766)	.	deleterious(0.04)	.	GHITM_HUMAN	GHITM	HGNC	Q9P099_HUMAN,Q658I8_HUMAN,Q5VT94_HUMAN,B4DPG9_HUMAN	.	UPI0000049DE6	SNV	GHITM,missense_variant,p.Phe241Leu,ENST00000372134,;	914	105	145	SUCCESS
PLCE1	51196	.	GRCh37	10	95791740	95791740	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	73	0	ENST00000260766.3:c.937G>A	p.Asp313Asn	p.D313N	ENST00000260766	NM_016341.3	313	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS41552.1	937	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGACGCT	NONE	.	.	Superfamily_domains:0041591	.	.	ENSP00000360431	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.632)	.	deleterious_low_confidence(0.01)	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,missense_variant,p.Asp313Asn,ENST00000371380,;PLCE1,missense_variant,p.Asp313Asn,ENST00000260766,;	1172	73	77	SUCCESS
ZNF518A	9849	.	GRCh37	10	97917317	97917317	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	40	120	0	ENST00000316045.5:n.572-330G>A		p.*191*	ENST00000316045				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGTTTCA	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	2095	120	174	SUCCESS
NXPE2	120406	.	GRCh37	11	114577377	114577377	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	10	112	0	ENST00000389586.4:c.1405A>C	p.Ile469Leu	p.I469L	ENST00000389586	NM_182495.5	469	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS44738.1	1405	MUTECT|MUSE	.	TCAATATTCAA	NONE	.	.	hmmpanther:PTHR16165:SF6,hmmpanther:PTHR16165	.	.	ENSP00000374237	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000389586	Transcript	.	.	ENSG00000204361	26331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.153)	.	deleterious(0.01)	.	NXPE2_HUMAN	NXPE2	HGNC	.	.	UPI0001662547	SNV	NXPE2,missense_variant,p.Ile469Leu,ENST00000389586,;NXPE2,intron_variant,,ENST00000375475,;	1595	112	133	SUCCESS
APOC3	345	.	GRCh37	11	116703552	116703552	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	60	144	0	ENST00000227667.3:c.252C>G	p.Phe84Leu	p.F84L	ENST00000227667	NM_000040.1	84	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS8377.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCTGGGA	NONE	.	.	Pfam_domain:PF05778,hmmpanther:PTHR14225,hmmpanther:PTHR14225:SF0	.	.	ENSP00000227667	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000227667	Transcript	.	.	ENSG00000110245	610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.83)	.	APOC3_HUMAN	APOC3	HGNC	A3KPE2_HUMAN,C9J2Q0_HUMAN	.	UPI0000125C26	SNV	APOC3,missense_variant,p.Phe102Leu,ENST00000375345,;APOC3,missense_variant,p.Phe84Leu,ENST00000227667,;APOA1,downstream_gene_variant,,ENST00000375329,;APOA1,downstream_gene_variant,,ENST00000236850,;APOC3,downstream_gene_variant,,ENST00000433777,;APOA1,downstream_gene_variant,,ENST00000375320,;APOA1,downstream_gene_variant,,ENST00000359492,;APOA1,downstream_gene_variant,,ENST00000375323,;APOA1-AS,upstream_gene_variant,,ENST00000444200,;APOC3,downstream_gene_variant,,ENST00000470144,;	314	144	169	SUCCESS
PSMA1	5682	.	GRCh37	11	14541864	14541864	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs755995369	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	119	0	ENST00000396394.2:c.-19C>T		p.*7*	ENST00000396394	NM_002786.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31431.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGTTGCG	NONE	byFrequency	.	.	.	.	ENSP00000414359	.	.	.	.	.	.	.	.	.	.	rs755995369	.	PASS	ENST00000418988	Transcript	.	.	ENSG00000129084	9530	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSA1_HUMAN	PSMA1	HGNC	F5GX11_HUMAN	.	UPI000002B1AC	SNV	PSMA1,5_prime_UTR_variant,,ENST00000532256,;PSMA1,5_prime_UTR_variant,,ENST00000530457,;PSMA1,5_prime_UTR_variant,,ENST00000533068,;PSMA1,5_prime_UTR_variant,,ENST00000419365,;PSMA1,5_prime_UTR_variant,,ENST00000396394,;PSMA1,intron_variant,,ENST00000418988,;PSMA1,upstream_gene_variant,,ENST00000396393,;PSMA1,5_prime_UTR_variant,,ENST00000555531,;PSMA1,non_coding_transcript_exon_variant,,ENST00000531156,;PSMA1,non_coding_transcript_exon_variant,,ENST00000528307,;PSMA1,non_coding_transcript_exon_variant,,ENST00000533331,;PSMA1,upstream_gene_variant,,ENST00000529524,;PSMA1,upstream_gene_variant,,ENST00000526443,;	.	119	121	SUCCESS
PIK3C2A	5286	.	GRCh37	11	17141377	17141377	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	79	0	ENST00000265970.7:c.2802G>A	p.Trp934Ter	p.W934*	ENST00000265970	NM_002645.2	934	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7824.1	2802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCCACTG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00145,Gene3D:1.25.40.70,Pfam_domain:PF00613,hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048,PROSITE_profiles:PS51545	.	.	ENSP00000265970	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000265970	Transcript	.	.	ENSG00000011405	8971	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P3C2A_HUMAN	PIK3C2A	HGNC	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN	.	UPI000013D6B3	SNV	PIK3C2A,stop_gained,p.Trp554Ter,ENST00000540361,;PIK3C2A,stop_gained,p.Trp934Ter,ENST00000265970,;RNU6-593P,upstream_gene_variant,,ENST00000364716,;PIK3C2A,intron_variant,,ENST00000531428,;	2802	79	101	SUCCESS
SLC22A18AS	5003	.	GRCh37	11	2920824	2920824	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1564940335	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	44	0	ENST00000533594.1:c.108G>C	p.Arg36Ser	p.R36S	ENST00000533594	NM_007105.2	36	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS7739.1	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTCCTCTG	NONE	.	.	.	.	.	ENSP00000433282	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000533594	Transcript	.	.	ENSG00000254827	10965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	BWR1B_HUMAN	SLC22A18AS	HGNC	.	.	UPI000013FBB8	SNV	SLC22A18AS,missense_variant,p.Arg36Ser,ENST00000533594,;SLC22A18AS,intron_variant,,ENST00000455942,;SLC22A18,upstream_gene_variant,,ENST00000347936,;SLC22A18,upstream_gene_variant,,ENST00000449793,;SLC22A18,upstream_gene_variant,,ENST00000380574,;SLC22A18,upstream_gene_variant,,ENST00000485423,;SLC22A18,upstream_gene_variant,,ENST00000312221,;SLC22A18,upstream_gene_variant,,ENST00000492567,;	605	44	61	SUCCESS
CAPRIN1	4076	.	GRCh37	11	34101204	34101204	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484946756	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	79	0	ENST00000341394.4:c.718G>A	p.Val240Ile	p.V240I	ENST00000341394	NM_005898.4	240	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS31453.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTGTTTTT	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3	.	.	ENSP00000340329	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000341394	Transcript	.	.	ENSG00000135387	6743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.38)	.	CAPR1_HUMAN	CAPRIN1	HGNC	G3V153_HUMAN,E9PLA9_HUMAN	.	UPI0000251DB5	SNV	CAPRIN1,missense_variant,p.Val240Ile,ENST00000532820,;CAPRIN1,missense_variant,p.Val240Ile,ENST00000389645,;CAPRIN1,missense_variant,p.Val240Ile,ENST00000530820,;CAPRIN1,missense_variant,p.Val240Ile,ENST00000341394,;CAPRIN1,missense_variant,p.Val159Ile,ENST00000529307,;CAPRIN1,downstream_gene_variant,,ENST00000534825,;CAPRIN1,intron_variant,,ENST00000528856,;CAPRIN1,downstream_gene_variant,,ENST00000530008,;CAPRIN1,downstream_gene_variant,,ENST00000534042,;CAPRIN1,downstream_gene_variant,,ENST00000533641,;CAPRIN1,downstream_gene_variant,,ENST00000526494,;	907	79	68	SUCCESS
ACCSL	390110	.	GRCh37	11	44073229	44073229	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	9	137	0	ENST00000378832.1:c.732T>A	p.Ser244=	p.S244=	ENST00000378832	NM_001031854.2	244	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS41636.1	732	MUTECT|MUSE	.	TGCTCTGTCTT	NONE	.	.	hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00753	.	.	ENSP00000368109	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000378832	Transcript	.	.	ENSG00000205126	34391	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	1A1L2_HUMAN	ACCSL	HGNC	.	.	UPI000023785D	SNV	ACCSL,synonymous_variant,p.%3D,ENST00000378832,;ACCSL,3_prime_UTR_variant,,ENST00000527145,;	788	137	207	SUCCESS
SPI1	6688	.	GRCh37	11	47381502	47381502	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772416102	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	19	0	ENST00000378538.3:c.232C>A	p.Pro78Thr	p.P78T	ENST00000378538	NM_003120.2	78	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS44591.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGCTGCA	NONE	.	.	hmmpanther:PTHR11849:SF16,hmmpanther:PTHR11849,Low_complexity_(Seg):seg	.	.	ENSP00000227163	.	3/5	.	.	.	.	.	.	.	.	rs772416102	3/5	PASS	ENST00000227163	Transcript	.	.	ENSG00000066336	11241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	tolerated(0.08)	.	SPI1_HUMAN	SPI1	HGNC	.	.	UPI0000D4ECF1	SNV	SPI1,missense_variant,p.Pro78Thr,ENST00000378538,;SPI1,missense_variant,p.Pro79Thr,ENST00000227163,;SPI1,missense_variant,p.Pro78Thr,ENST00000533968,;SPI1,intron_variant,,ENST00000533030,;	273	19	22	SUCCESS
LRRC55	219527	.	GRCh37	11	56949336	56949336	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs762848120	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	13	0	ENST00000497933.1:c.-32G>T		p.*11*	ENST00000497933	NM_001005210.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31539.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGCTCCT	NONE	byFrequency	.	.	.	.	ENSP00000419542	.	1/2	.	.	.	.	.	.	.	.	rs762848120	1/2	PASS	ENST00000497933	Transcript	.	.	ENSG00000183908	32324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC55_HUMAN	LRRC55	HGNC	.	.	UPI00001C0E6F	SNV	LRRC55,5_prime_UTR_variant,,ENST00000497933,;	116	13	19	SUCCESS
EML3	256364	.	GRCh37	11	62376466	62376466	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	88	1	ENST00000394773.2:c.897A>G	p.Arg299=	p.R299=	ENST00000394773	NM_153265.2	299	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS8023.2	897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGTCTCTG	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF15,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000378254	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000394773	Transcript	.	.	ENSG00000149499	26666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMAL3_HUMAN	EML3	HGNC	G3V195_HUMAN,E9PJV5_HUMAN,C9J6V3_HUMAN	.	UPI0000228E33	SNV	EML3,synonymous_variant,p.%3D,ENST00000278845,;EML3,synonymous_variant,p.%3D,ENST00000494176,;EML3,synonymous_variant,p.%3D,ENST00000394773,;EML3,synonymous_variant,p.%3D,ENST00000394776,;EML3,synonymous_variant,p.%3D,ENST00000529309,;EML3,synonymous_variant,p.%3D,ENST00000531557,;ROM1,upstream_gene_variant,,ENST00000278833,;ROM1,upstream_gene_variant,,ENST00000525801,;EML3,downstream_gene_variant,,ENST00000419857,;ROM1,upstream_gene_variant,,ENST00000534093,;EML3,downstream_gene_variant,,ENST00000466671,;ROM1,upstream_gene_variant,,ENST00000525947,;EML3,downstream_gene_variant,,ENST00000466886,;RP11-831H9.3,downstream_gene_variant,,ENST00000532626,;EML3,upstream_gene_variant,,ENST00000438258,;ROM1,upstream_gene_variant,,ENST00000529273,;EML3,3_prime_UTR_variant,,ENST00000494448,;EML3,upstream_gene_variant,,ENST00000460939,;EML3,upstream_gene_variant,,ENST00000526116,;EML3,upstream_gene_variant,,ENST00000462626,;EML3,upstream_gene_variant,,ENST00000483199,;EML3,upstream_gene_variant,,ENST00000533165,;EML3,upstream_gene_variant,,ENST00000524518,;	1205	89	122	SUCCESS
SLC22A8	9376	.	GRCh37	11	62768191	62768191	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	109	0	ENST00000336232.2:c.437+1G>T		p.X146_splice	ENST00000336232	NM_001184736.1	146		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8042.1	.	MUTECT|MUSE	.	TCTCACCTGTC	NONE	.	.	.	.	.	ENSP00000337335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	HIGH	3/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,splice_donor_variant,,ENST00000535878,;SLC22A8,splice_donor_variant,,ENST00000336232,;SLC22A8,splice_donor_variant,,ENST00000430500,;SLC22A8,splice_donor_variant,,ENST00000311438,;SLC22A8,splice_donor_variant,,ENST00000545207,;SLC22A8,splice_donor_variant,,ENST00000542795,;SLC22A8,splice_donor_variant,,ENST00000542904,;SLC22A8,upstream_gene_variant,,ENST00000539841,;	.	109	162	SUCCESS
DNHD1	144132	.	GRCh37	11	6566625	6566625	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	44	145	0	ENST00000254579.6:c.4456A>G	p.Lys1486Glu	p.K1486E	ENST00000254579	NM_144666.2	1486	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS44532.1	4456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAAGCAA	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Lys1486Glu,ENST00000527990,;DNHD1,missense_variant,p.Lys1486Glu,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000533649,;	5020	145	169	SUCCESS
DCHS1	8642	.	GRCh37	11	6651029	6651029	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761516066	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	43	1	ENST00000299441.3:c.4909G>A	p.Val1637Ile	p.V1637I	ENST00000299441	NM_003737.2	1637	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS7771.1	4909	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTGACGGTCA	NONE	.	.	Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	11/21	.	.	.	.	.	.	.	.	rs761516066	11/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	tolerated(0.07)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Val1637Ile,ENST00000299441,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	5321	44	37	SUCCESS
SPCS2	9789	.	GRCh37	11	74676881	74676881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	56	0	ENST00000263672.6:c.272C>A	p.Ser91Tyr	p.S91Y	ENST00000263672	NM_014752.2	91	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44681.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTCCTGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13085:SF0,hmmpanther:PTHR13085,Pfam_domain:PF06703	.	.	ENSP00000263672	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000263672	Transcript	.	.	ENSG00000118363	28962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SPCS2_HUMAN	SPCS2	HGNC	.	.	UPI0000135D6A	SNV	SPCS2,missense_variant,p.Ser95Tyr,ENST00000526883,;SPCS2,missense_variant,p.Ser122Tyr,ENST00000532972,;SPCS2,missense_variant,p.Ser91Tyr,ENST00000263672,;SPCS2,intron_variant,,ENST00000526361,;SPCS2,intron_variant,,ENST00000530257,;RNU6-216P,downstream_gene_variant,,ENST00000363282,;SPCS2,intron_variant,,ENST00000527225,;SPCS2,intron_variant,,ENST00000528265,;SPCS2,downstream_gene_variant,,ENST00000527290,;	311	56	46	SUCCESS
TAS2R10	50839	.	GRCh37	12	10978297	10978297	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	39	1	ENST00000240619.2:c.572T>G	p.Ile191Ser	p.I191S	ENST00000240619	NM_023921.1	191	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS8634.1	572	SOMATICSNIPER|MUTECT|VARSCANS	.	ATGTAATTAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF26,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000240619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000240619	Transcript	.	.	ENSG00000121318	14918	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.862)	.	deleterious(0)	.	T2R10_HUMAN	TAS2R10	HGNC	Q50KS2_HUMAN	.	UPI0000038B12	SNV	TAS2R10,missense_variant,p.Ile191Ser,ENST00000240619,;PRR4,intron_variant,,ENST00000538332,;	661	40	32	SUCCESS
GPR19	2842	.	GRCh37	12	12815347	12815347	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	56	0	ENST00000332427.2:c.36A>G	p.Pro12=	p.P12=	ENST00000332427	NM_006143.2	12	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS8652.1	36	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTGGCTT	NONE	.	.	.	.	.	ENSP00000441832	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000540510	Transcript	.	.	ENSG00000183150	4473	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPR19_HUMAN	GPR19	HGNC	F5GWU2_HUMAN	.	UPI000013CAB3	SNV	GPR19,synonymous_variant,p.%3D,ENST00000332427,;GPR19,synonymous_variant,p.%3D,ENST00000540796,;GPR19,synonymous_variant,p.%3D,ENST00000540510,;	229	56	58	SUCCESS
GPR133	0	.	GRCh37	12	131622709	131622709	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	13	78	0	ENST00000261654.5:c.2464A>G	p.Lys822Glu	p.K822E	ENST00000261654	NM_198827.3	822	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9272.1	2464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAAGGTC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216,Superfamily_domains:SSF81321	.	.	ENSP00000261654	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000261654	Transcript	.	.	ENSG00000111452	19893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	GP133_HUMAN	GPR133	HGNC	F5H4Y0_HUMAN,B2CKK9_HUMAN	.	UPI0000241C7A	SNV	GPR133,missense_variant,p.Lys341Glu,ENST00000543617,;GPR133,missense_variant,p.Lys508Glu,ENST00000376682,;GPR133,missense_variant,p.Lys854Glu,ENST00000535015,;GPR133,missense_variant,p.Lys822Glu,ENST00000261654,;GPR133,missense_variant,p.Lys176Glu,ENST00000335486,;GPR133,non_coding_transcript_exon_variant,,ENST00000540207,;GPR133,non_coding_transcript_exon_variant,,ENST00000446583,;GPR133,downstream_gene_variant,,ENST00000537489,;	3023	79	80	SUCCESS
CCDC91	55297	.	GRCh37	12	28459739	28459739	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	47	0	ENST00000381259.1:c.332A>G	p.Lys111Arg	p.K111R	ENST00000381259	NM_018318.3	111	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS8716.1	332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAAAAGTA	NONE	.	.	.	.	.	ENSP00000438040	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000545336	Transcript	.	.	ENSG00000123106	24855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.4)	.	CCD91_HUMAN	CCDC91	HGNC	F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN	.	UPI00001AEE23	SNV	CCDC91,missense_variant,p.Lys111Arg,ENST00000381256,;CCDC91,missense_variant,p.Lys111Arg,ENST00000545336,;CCDC91,missense_variant,p.Lys81Arg,ENST00000306172,;CCDC91,missense_variant,p.Lys111Arg,ENST00000381259,;CCDC91,missense_variant,p.Lys111Arg,ENST00000539107,;CCDC91,intron_variant,,ENST00000536154,;CCDC91,intron_variant,,ENST00000540794,;CCDC91,downstream_gene_variant,,ENST00000538586,;CCDC91,downstream_gene_variant,,ENST00000543534,;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,;CCDC91,non_coding_transcript_exon_variant,,ENST00000544649,;CCDC91,non_coding_transcript_exon_variant,,ENST00000539904,;CCDC91,missense_variant,p.Lys111Arg,ENST00000536442,;CCDC91,missense_variant,p.Lys111Arg,ENST00000545737,;CCDC91,missense_variant,p.Lys111Arg,ENST00000543809,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;	751	47	66	SUCCESS
CAPRIN2	65981	.	GRCh37	12	30863308	30863308	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	14	109	0	ENST00000298892.5:c.2762C>T	p.Thr921Ile	p.T921I	ENST00000298892	NM_023925.3	921	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS8720.1	2762	MUTECT|MUSE|VARSCANS	.	CAGGGGTCATG	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5	.	.	ENSP00000298892	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000298892	Transcript	.	.	ENSG00000110888	21259	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CAPR2_HUMAN	CAPRIN2	HGNC	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN	.	UPI000007080A	SNV	CAPRIN2,missense_variant,p.Thr637Ile,ENST00000308433,;CAPRIN2,missense_variant,p.Thr971Ile,ENST00000251071,;CAPRIN2,missense_variant,p.Thr921Ile,ENST00000298892,;CAPRIN2,3_prime_UTR_variant,,ENST00000433722,;CAPRIN2,3_prime_UTR_variant,,ENST00000395805,;CAPRIN2,3_prime_UTR_variant,,ENST00000417045,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;	3513	109	157	SUCCESS
GALNT6	11226	.	GRCh37	12	51758078	51758078	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	55	154	0	ENST00000356317.3:c.876G>A	p.Val292=	p.V292=	ENST00000356317	NM_007210.3	292	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8813.1	876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACCACTGT	NONE	.	.	hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	.	ENSP00000444171	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,synonymous_variant,p.%3D,ENST00000543196,;GALNT6,synonymous_variant,p.%3D,ENST00000356317,;GALNT6,synonymous_variant,p.%3D,ENST00000603641,;GALNT6,upstream_gene_variant,,ENST00000603680,;	1082	154	188	SUCCESS
KRT3	3850	.	GRCh37	12	53189359	53189359	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	57	108	0	ENST00000417996.2:c.468C>T	p.Gly156=	p.G156=	ENST00000417996	NM_057088.2	156	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS44895.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTGCCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF140,hmmpanther:PTHR23239	.	.	ENSP00000413479	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000417996	Transcript	.	.	ENSG00000186442	6440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C3_HUMAN	KRT3	HGNC	.	.	UPI000013EEC8	SNV	KRT3,synonymous_variant,p.%3D,ENST00000309505,;KRT3,synonymous_variant,p.%3D,ENST00000417996,;	543	108	150	SUCCESS
ZC3H10	84872	.	GRCh37	12	56515237	56515237	+	synonymous_variant	Silent	SNP	C	C	T	rs1246515674	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	83	1	ENST00000257940.2:c.891C>T	p.Pro297=	p.P297=	ENST00000257940	NM_032786.1	297	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8903.1	891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCACTGT	NONE	.	.	hmmpanther:PTHR12675	.	.	ENSP00000257940	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000257940	Transcript	.	.	ENSG00000135482	25893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3HA_HUMAN	ZC3H10	HGNC	F8VYY3_HUMAN,F8VSG0_HUMAN,F8VQT2_HUMAN	.	UPI0000070771	SNV	ZC3H10,synonymous_variant,p.%3D,ENST00000257940,;ESYT1,intron_variant,,ENST00000551790,;ZC3H10,downstream_gene_variant,,ENST00000551880,;RPL41,downstream_gene_variant,,ENST00000546591,;ZC3H10,downstream_gene_variant,,ENST00000546903,;RPL41,downstream_gene_variant,,ENST00000501597,;ZC3H10,downstream_gene_variant,,ENST00000552345,;RP11-603J24.5,intron_variant,,ENST00000549438,;RP11-603J24.5,intron_variant,,ENST00000550947,;RP11-603J24.6,upstream_gene_variant,,ENST00000550840,;RPL41,downstream_gene_variant,,ENST00000546654,;ZC3H10,downstream_gene_variant,,ENST00000549973,;RPL41,downstream_gene_variant,,ENST00000546485,;RPL41,downstream_gene_variant,,ENST00000552314,;RPL41,downstream_gene_variant,,ENST00000358888,;	1167	84	79	SUCCESS
PTPRB	5787	.	GRCh37	12	70988332	70988332	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	70	203	0	ENST00000261266.5:c.777G>A	p.Gly259=	p.G259=	ENST00000261266	NM_002837.4	259	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44943.1	1431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCCCGTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	6/34	.	.	.	.	.	.	.	.	.	6/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	1476	203	262	SUCCESS
PHC1	1911	.	GRCh37	12	9070234	9070234	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	12	81	0	ENST00000543824.1:c.-40T>A		p.*14*	ENST00000543824				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8597.1	.	MUTECT|MUSE	.	TTGAGTCAGAC	NONE	.	.	.	.	.	ENSP00000440674	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,5_prime_UTR_variant,,ENST00000539063,;PHC1,5_prime_UTR_variant,,ENST00000543824,;PHC1,5_prime_UTR_variant,,ENST00000536844,;PHC1,5_prime_UTR_variant,,ENST00000538657,;PHC1,5_prime_UTR_variant,,ENST00000433083,;PHC1,5_prime_UTR_variant,,ENST00000544539,;PHC1,5_prime_UTR_variant,,ENST00000544916,;PHC1,upstream_gene_variant,,ENST00000541181,;PHC1,non_coding_transcript_exon_variant,,ENST00000433847,;PHC1,5_prime_UTR_variant,,ENST00000540574,;	293	81	122	SUCCESS
UPF3A	65110	.	GRCh37	13	115052106	115052106	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	17	149	0	ENST00000375299.3:c.631+2T>C		p.X211_splice	ENST00000375299	NM_023011.3	211		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9543.1	.	MUTECT|MUSE|VARSCANS	.	ATTGGTCTGTT	NONE	.	.	.	.	.	ENSP00000364448	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375299	Transcript	.	.	ENSG00000169062	20332	.	.	HIGH	5/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REN3A_HUMAN	UPF3A	HGNC	B3KUE7_HUMAN	.	UPI0000072FCB	SNV	UPF3A,splice_donor_variant,,ENST00000351487,;UPF3A,splice_donor_variant,,ENST00000375299,;UPF3A,splice_donor_variant,,ENST00000493727,;UPF3A,splice_donor_variant,,ENST00000484246,;UPF3A,splice_donor_variant,,ENST00000480362,;UPF3A,splice_donor_variant,,ENST00000475218,;UPF3A,splice_donor_variant,,ENST00000481131,;UPF3A,splice_donor_variant,,ENST00000479712,;UPF3A,intron_variant,,ENST00000474056,;UPF3A,downstream_gene_variant,,ENST00000492270,;	.	149	194	SUCCESS
ATP8A2	51761	.	GRCh37	13	26586735	26586735	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	32	35	0	ENST00000381655.2:c.3444C>A	p.Gly1148=	p.G1148=	ENST00000381655	NM_016529.4	1148	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41873.1	3444	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCAGCTC	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092	.	.	ENSP00000371070	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,synonymous_variant,p.%3D,ENST00000255283,;ATP8A2,synonymous_variant,p.%3D,ENST00000381655,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	3586	35	55	SUCCESS
TEX26	122046	.	GRCh37	13	31549019	31549019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	55	0	ENST00000380473.3:c.845G>A	p.Cys282Tyr	p.C282Y	ENST00000380473	NM_152325.1	282	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS9339.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGTGACA	NONE	.	.	.	.	.	ENSP00000369840	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000380473	Transcript	.	.	ENSG00000175664	28622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.23)	.	TEX26_HUMAN	TEX26	HGNC	.	.	UPI0000070D41	SNV	TEX26,missense_variant,p.Cys282Tyr,ENST00000380473,;RP11-252M21.6,non_coding_transcript_exon_variant,,ENST00000433788,;TEX26,non_coding_transcript_exon_variant,,ENST00000530916,;TEX26,3_prime_UTR_variant,,ENST00000531960,;	858	55	91	SUCCESS
KBTBD7	84078	.	GRCh37	13	41766715	41766715	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754279461	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	48	146	0	ENST00000379483.3:c.1679A>G	p.Gln560Arg	p.Q560R	ENST00000379483	NM_032138.4	560	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9377.1	1679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTGGTAG	NONE	.	.	hmmpanther:PTHR24412:SF132,hmmpanther:PTHR24412,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000368797	.	1/1	.	.	.	.	.	.	.	.	rs754279461	1/1	PASS	ENST00000379483	Transcript	.	.	ENSG00000120696	25266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.73)	.	KBTB7_HUMAN	KBTBD7	HGNC	B4DS80_HUMAN	.	UPI0000071F8F	SNV	KBTBD7,missense_variant,p.Gln560Arg,ENST00000379483,;	1988	146	177	SUCCESS
DGKH	160851	.	GRCh37	13	42763420	42763420	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768501002	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	78	0	ENST00000337343.4:c.1887G>T	p.Arg629Ser	p.R629S	ENST00000337343	NM_178009.3	629	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS9381.1	1887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGCAAGT	NONE	.	.	hmmpanther:PTHR11255:SF37,hmmpanther:PTHR11255	.	.	ENSP00000337572	.	15/30	.	.	.	.	.	.	.	.	rs768501002	15/30	PASS	ENST00000337343	Transcript	.	.	ENSG00000102780	2854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	DGKH_HUMAN	DGKH	HGNC	.	.	UPI000017DA47	SNV	DGKH,missense_variant,p.Arg493Ser,ENST00000536612,;DGKH,missense_variant,p.Arg493Ser,ENST00000379274,;DGKH,missense_variant,p.Arg629Ser,ENST00000261491,;DGKH,missense_variant,p.Arg384Ser,ENST00000538674,;DGKH,missense_variant,p.Arg629Ser,ENST00000540693,;DGKH,missense_variant,p.Arg629Ser,ENST00000337343,;DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;	1908	79	108	SUCCESS
NUFIP1	26747	.	GRCh37	13	45563368	45563368	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs765016323	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	20	0	ENST00000379161.4:c.204del	p.Met69TrpfsTer134	p.M69Wfs*134	ENST00000379161	NM_012345.2	68	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS9393.1	204	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCATGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR13309	.	.	ENSP00000368459	.	1/10	.	.	.	.	.	.	.	.	rs752198049,rs765016323	1/10	PASS	ENST00000379161	Transcript	.	.	ENSG00000083635	8057	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NUFP1_HUMAN	NUFIP1	HGNC	.	.	UPI000013C768	deletion	NUFIP1,frameshift_variant,p.Met69TrpfsTer134,ENST00000379161,;GPALPP1,upstream_gene_variant,,ENST00000379151,;GPALPP1,upstream_gene_variant,,ENST00000361121,;RP11-321C24.1,intron_variant,,ENST00000437748,;GPALPP1,upstream_gene_variant,,ENST00000479068,;GPALPP1,upstream_gene_variant,,ENST00000497558,;	251	20	32	SUCCESS
IGHV1-2	28474	.	GRCh37	14	106452843	106452843	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782168173	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	402	208	404	0	ENST00000390594.2:c.179C>A	p.Pro60His	p.P60H	ENST00000390594		60	cCt/cAt	0	.	.	.	.	.	T	P/H	IG_V_gene	YES	.	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGGGGCC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375003	.	2/2	.	.	.	.	.	.	.	.	rs782168173	2/2	PASS	ENST00000390594	Transcript	.	.	ENSG00000211934	5550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.07)	.	.	IGHV1-2	HGNC	.	.	UPI0000115F95	SNV	IGHV1-2,missense_variant,p.Pro60His,ENST00000390594,;	243	404	610	SUCCESS
RNF31	55072	.	GRCh37	14	24618693	24618693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	93	0	ENST00000324103.6:c.710G>T	p.Cys237Phe	p.C237F	ENST00000324103	NM_017999.4	237	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS41931.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGTCCAG	NONE	.	.	hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1	.	.	ENSP00000315112	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000324103	Transcript	.	.	ENSG00000092098	16031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RNF31_HUMAN	RNF31	HGNC	H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN	.	UPI0000072F93	SNV	RNF31,missense_variant,p.Cys52Phe,ENST00000559533,;RNF31,missense_variant,p.Cys138Phe,ENST00000560787,;RNF31,missense_variant,p.Cys52Phe,ENST00000560071,;RNF31,missense_variant,p.Cys237Phe,ENST00000324103,;RNF31,missense_variant,p.Cys86Phe,ENST00000382687,;RNF31,missense_variant,p.Cys52Phe,ENST00000559308,;RNF31,missense_variant,p.Cys86Phe,ENST00000559275,;RNF31,downstream_gene_variant,,ENST00000557991,;PSME2,upstream_gene_variant,,ENST00000216802,;PSME2,upstream_gene_variant,,ENST00000559056,;RNF31,downstream_gene_variant,,ENST00000560875,;PSME2,upstream_gene_variant,,ENST00000560410,;RNF31,downstream_gene_variant,,ENST00000559260,;RNF31,non_coding_transcript_exon_variant,,ENST00000559583,;PSME2,upstream_gene_variant,,ENST00000471700,;PSME2,upstream_gene_variant,,ENST00000559613,;RNF31,downstream_gene_variant,,ENST00000558634,;RNF31,downstream_gene_variant,,ENST00000559438,;PSME2,upstream_gene_variant,,ENST00000561103,;RNF31,downstream_gene_variant,,ENST00000559882,;RNF31,downstream_gene_variant,,ENST00000557878,;RNF31,synonymous_variant,p.%3D,ENST00000558907,;RNF31,intron_variant,,ENST00000491351,;PSME2,upstream_gene_variant,,ENST00000560370,;PSME2,upstream_gene_variant,,ENST00000560788,;PSME2,upstream_gene_variant,,ENST00000559359,;PSME2,upstream_gene_variant,,ENST00000558273,;RP11-468E2.4,upstream_gene_variant,,ENST00000558468,;RNF31,upstream_gene_variant,,ENST00000559071,;PSME2,upstream_gene_variant,,ENST00000559453,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000558931,;RNF31,downstream_gene_variant,,ENST00000560342,;PSME2,upstream_gene_variant,,ENST00000560592,;	1030	93	136	SUCCESS
GPR135	64582	.	GRCh37	14	59930690	59930690	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	70	0	ENST00000395116.1:c.1255G>T	p.Gly419Cys	p.G419C	ENST00000395116	NM_022571.5	419	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9738.1	1255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCCTGGC	NONE	.	.	hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752	.	.	ENSP00000378548	.	1/1	.	.	.	.	.	.	.	.	COSM401487	1/1	PASS	ENST00000395116	Transcript	.	.	ENSG00000181619	19991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.885)	.	deleterious(0.02)	1	GP135_HUMAN	GPR135	HGNC	.	.	UPI0000046D5B	SNV	GPR135,missense_variant,p.Gly419Cys,ENST00000395116,;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Gly419Cys,ENST00000481661,;	1371	70	75	SUCCESS
SYNE2	23224	.	GRCh37	14	64457170	64457170	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	15	123	0	ENST00000344113.4:c.2355A>G	p.Ala785=	p.A785=	ENST00000344113	NM_015180.4	785	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9761.2	2355	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCAAGAAG	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	20/116	.	.	.	.	.	.	.	.	.	20/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;	2585	123	130	SUCCESS
SNRPN	6638	.	GRCh37	15	25221503	25221503	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	7	110	0	ENST00000346403.6:c.207G>T	p.Leu69=	p.L69=	ENST00000346403		69	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10017.1	207	MUTECT|MUSE	.	GGTCTGGTGTT	NONE	.	.	hmmpanther:PTHR10701:SF1,hmmpanther:PTHR10701,Pfam_domain:PF01423,Gene3D:2.30.30.100,PIRSF_domain:PIRSF037187,SMART_domains:SM00651,Superfamily_domains:SSF50182	.	.	ENSP00000382972	.	9/13	.	.	.	.	.	.	.	.	COSM371311	9/13	PASS	ENST00000400100	Transcript	1	.	ENSG00000128739	11164	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	RSMN_HUMAN	SNRPN	HGNC	Q9UKR4_HUMAN,Q6LBS1_HUMAN,J3QLE5_HUMAN,J3KRY3_HUMAN	.	UPI000002948A	SNV	SNRPN,synonymous_variant,p.%3D,ENST00000400100,;SNRPN,synonymous_variant,p.%3D,ENST00000400098,;SNRPN,synonymous_variant,p.%3D,ENST00000400097,;SNRPN,synonymous_variant,p.%3D,ENST00000554227,;SNRPN,synonymous_variant,p.%3D,ENST00000390687,;SNRPN,synonymous_variant,p.%3D,ENST00000579070,;SNRPN,synonymous_variant,p.%3D,ENST00000444203,;SNRPN,synonymous_variant,p.%3D,ENST00000577565,;SNRPN,synonymous_variant,p.%3D,ENST00000346403,;SNURF,3_prime_UTR_variant,,ENST00000338094,;SNRPN,downstream_gene_variant,,ENST00000584968,;SNHG14,upstream_gene_variant,,ENST00000551631,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,3_prime_UTR_variant,,ENST00000580062,;SNURF,intron_variant,,ENST00000551312,;SNURF,intron_variant,,ENST00000557230,;SNHG14,upstream_gene_variant,,ENST00000557108,;	1097	110	140	SUCCESS
RYR3	6263	.	GRCh37	15	33855053	33855053	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	57	0	ENST00000389232.4:c.988T>A	p.Leu330Ile	p.L330I	ENST00000389232	NM_001036.3	330	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS45210.1	988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATTAGAC	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000373884	.	11/104	.	.	.	.	.	.	.	.	.	11/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Leu330Ile,ENST00000389232,;RYR3,missense_variant,p.Leu330Ile,ENST00000415757,;	1058	58	92	SUCCESS
SLC12A1	6557	.	GRCh37	15	48533795	48533795	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	52	87	0	ENST00000380993.3:c.1299A>G		p.X433_splice	ENST00000380993	NM_000338.2	433	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS53940.1	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTAGGTAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000379822	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,synonymous_variant,p.%3D,ENST00000558405,;SLC12A1,synonymous_variant,p.%3D,ENST00000396577,;SLC12A1,synonymous_variant,p.%3D,ENST00000559641,;SLC12A1,synonymous_variant,p.%3D,ENST00000380993,;SLC12A1,downstream_gene_variant,,ENST00000330289,;SLC12A1,splice_region_variant,,ENST00000560692,;SLC12A1,splice_region_variant,,ENST00000558252,;	1514	87	147	SUCCESS
SHC4	399694	.	GRCh37	15	49254841	49254841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	63	0	ENST00000332408.4:c.372C>A	p.Asp124Glu	p.D124E	ENST00000332408	NM_203349.3	124	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS10130.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGTCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12	.	.	ENSP00000329668	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.85)	.	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,missense_variant,p.Asp124Glu,ENST00000332408,;	801	63	86	SUCCESS
PTPN9	5780	.	GRCh37	15	75782644	75782644	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	71	1	ENST00000306726.2:c.969-2A>T		p.X323_splice	ENST00000306726	NM_002833.2	323		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10280.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGAAGG	NONE	.	.	.	.	.	ENSP00000303554	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306726	Transcript	.	.	ENSG00000169410	9661	.	.	HIGH	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN9_HUMAN	PTPN9	HGNC	.	.	UPI0000000CAC	SNV	PTPN9,splice_acceptor_variant,,ENST00000306726,;PTPN9,splice_acceptor_variant,,ENST00000564970,;	.	72	104	SUCCESS
SCAPER	49855	.	GRCh37	15	76994169	76994169	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	44	0	ENST00000324767.7:c.2438G>C	p.Gly813Ala	p.G813A	ENST00000324767	NM_020843.2	813	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS53962.1	2438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCCTTTA	NONE	.	.	hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2,Pfam_domain:PF12874,SMART_domains:SM00451,Superfamily_domains:SSF57667	.	.	ENSP00000454973	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	deleterious(0.03)	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Gly813Ala,ENST00000324767,;SCAPER,missense_variant,p.Gly567Ala,ENST00000538941,;SCAPER,missense_variant,p.Gly813Ala,ENST00000563290,;SCAPER,downstream_gene_variant,,ENST00000564590,;SCAPER,downstream_gene_variant,,ENST00000565970,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;SCAPER,downstream_gene_variant,,ENST00000565507,;	2534	44	55	SUCCESS
RASGRF1	5923	.	GRCh37	15	79350802	79350802	+	synonymous_variant	Silent	SNP	C	C	T	rs763522325	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	42	96	0	ENST00000419573.3:c.405G>A	p.Glu135=	p.E135=	ENST00000419573	NM_002891.4	135	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS10309.1	405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGCTCTGT	NONE	.	.	hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113	.	.	ENSP00000405963	.	3/28	.	.	.	.	.	.	.	.	rs763522325	3/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,synonymous_variant,p.%3D,ENST00000558480,;RASGRF1,synonymous_variant,p.%3D,ENST00000419573,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	680	96	141	SUCCESS
AP3B2	8120	.	GRCh37	15	83357541	83357541	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	29	135	0	ENST00000261722.3:c.307G>C	p.Glu103Gln	p.E103Q	ENST00000261722	NM_004644.4	103	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS45331.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCTCAG	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371	.	.	ENSP00000261722	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000261722	Transcript	.	.	ENSG00000103723	567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	tolerated(0.06)	.	AP3B2_HUMAN	AP3B2	HGNC	F5GWU4_HUMAN	.	UPI0000125030	SNV	AP3B2,missense_variant,p.Glu103Gln,ENST00000542200,;AP3B2,missense_variant,p.Glu59Gln,ENST00000541693,;AP3B2,missense_variant,p.Glu103Gln,ENST00000535359,;AP3B2,missense_variant,p.Glu103Gln,ENST00000261722,;AP3B2,intron_variant,,ENST00000535348,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000561455,;AP3B2,downstream_gene_variant,,ENST00000560529,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535385,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535513,;RP11-752G15.4,downstream_gene_variant,,ENST00000560043,;	515	135	161	SUCCESS
ABCC6P1	653190	.	GRCh37	16	18584198	18584198	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	77	0	ENST00000546162.2:n.125-1G>T		p.X42_splice	ENST00000546162		42		0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGGTCTG	NONE	.	1808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000602805	Transcript	.	.	ENSG00000260550	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-457I16.2	Clone_based_vega_gene	.	.	.	SNV	RP11-457I16.2,upstream_gene_variant,,ENST00000602805,;RP11-457I16.2,upstream_gene_variant,,ENST00000561676,;ABCC6P1,splice_acceptor_variant,,ENST00000565118,;ABCC6P1,splice_acceptor_variant,,ENST00000565647,;ABCC6P1,splice_acceptor_variant,,ENST00000546162,;ABCC6P1,splice_acceptor_variant,,ENST00000565566,;ABCC6P1,splice_acceptor_variant,,ENST00000600761,;	.	77	77	SUCCESS
ACSM2A	123876	.	GRCh37	16	20494379	20494379	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	43	128	0	ENST00000219054.6:c.1510-1G>A		p.X504_splice	ENST00000219054		504		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32401.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAGGTGGT	NONE	.	.	.	.	.	ENSP00000459451	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000573854	Transcript	.	.	ENSG00000183747	32017	.	.	HIGH	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACS2A_HUMAN	ACSM2A	HGNC	I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN	.	UPI0000251E27	SNV	ACSM2A,splice_acceptor_variant,,ENST00000575690,;ACSM2A,splice_acceptor_variant,,ENST00000573854,;ACSM2A,splice_acceptor_variant,,ENST00000536134,;ACSM2A,splice_acceptor_variant,,ENST00000219054,;ACSM2A,splice_acceptor_variant,,ENST00000417235,;ACSM2A,splice_acceptor_variant,,ENST00000396104,;AC137056.1,upstream_gene_variant,,ENST00000593357,;ACSM2A,downstream_gene_variant,,ENST00000575558,;ACSM2A,splice_acceptor_variant,,ENST00000572843,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000576119,;ACSM2A,downstream_gene_variant,,ENST00000570698,;ACSM2A,downstream_gene_variant,,ENST00000576101,;	.	128	186	SUCCESS
TNRC6A	27327	.	GRCh37	16	24834929	24834929	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	108	0	ENST00000395799.3:c.5690T>G	p.Leu1897Arg	p.L1897R	ENST00000395799	NM_014494.2	1897	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS10624.2	5690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATCTCAATC	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.11)	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,missense_variant,p.Leu1897Arg,ENST00000395799,;TNRC6A,missense_variant,p.Leu1848Arg,ENST00000315183,;TNRC6A,missense_variant,p.Leu841Arg,ENST00000450465,;TNRC6A,missense_variant,p.Leu375Arg,ENST00000432286,;TNRC6A,intron_variant,,ENST00000569098,;CTD-2515A14.1,upstream_gene_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000464539,;TNRC6A,downstream_gene_variant,,ENST00000569634,;TNRC6A,downstream_gene_variant,,ENST00000569376,;	5819	108	121	SUCCESS
XPO6	23214	.	GRCh37	16	28167815	28167815	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	60	1	ENST00000304658.5:c.677G>A	p.Ser226Asn	p.S226N	ENST00000304658	NM_015171.3	226	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS42135.1	677	RADIA|MUTECT|VARSCANS	.	CTGAACTGGGA	NONE	.	.	Pfam_domain:PF08389,Gene3D:1.25.10.10,hmmpanther:PTHR21452	.	.	ENSP00000302790	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.31)	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,missense_variant,p.Ser226Asn,ENST00000304658,;XPO6,missense_variant,p.Ser63Asn,ENST00000574435,;XPO6,missense_variant,p.Ser212Asn,ENST00000565698,;XPO6,non_coding_transcript_exon_variant,,ENST00000573645,;XPO6,non_coding_transcript_exon_variant,,ENST00000569973,;XPO6,upstream_gene_variant,,ENST00000564337,;XPO6,upstream_gene_variant,,ENST00000561488,;XPO6,upstream_gene_variant,,ENST00000566175,;XPO6,upstream_gene_variant,,ENST00000565284,;XPO6,upstream_gene_variant,,ENST00000570294,;	1178	61	82	SUCCESS
TGFB1I1	7041	.	GRCh37	16	31487440	31487440	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1214430699	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	57	0	ENST00000394863.3:c.822C>A	p.Phe274Leu	p.F274L	ENST00000394863	NM_001042454.2	274	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS42156.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTCTGCCC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF24,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,PIRSF_domain:PIRSF037881,Superfamily_domains:SSF57716	.	.	ENSP00000378332	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000394863	Transcript	.	.	ENSG00000140682	11767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	deleterious(0.03)	.	TGFI1_HUMAN	TGFB1I1	HGNC	H3BSN4_HUMAN,H3BS04_HUMAN	.	UPI00001FFFA9	SNV	TGFB1I1,missense_variant,p.Phe274Leu,ENST00000394863,;TGFB1I1,missense_variant,p.Phe257Leu,ENST00000361773,;TGFB1I1,missense_variant,p.Phe257Leu,ENST00000394858,;TGFB1I1,missense_variant,p.Phe257Leu,ENST00000567607,;TGFB1I1,downstream_gene_variant,,ENST00000562566,;TGFB1I1,downstream_gene_variant,,ENST00000565454,;TGFB1I1,downstream_gene_variant,,ENST00000565360,;TGFB1I1,3_prime_UTR_variant,,ENST00000563712,;TGFB1I1,3_prime_UTR_variant,,ENST00000567066,;TGFB1I1,3_prime_UTR_variant,,ENST00000564804,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000569703,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000564176,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000568142,;TGFB1I1,downstream_gene_variant,,ENST00000567524,;TGFB1I1,downstream_gene_variant,,ENST00000561785,;TGFB1I1,downstream_gene_variant,,ENST00000562165,;TGFB1I1,downstream_gene_variant,,ENST00000569254,;	952	57	65	SUCCESS
NUP93	9688	.	GRCh37	16	56868090	56868090	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750107617	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	68	0	ENST00000308159.5:c.1588C>T	p.Arg530Trp	p.R530W	ENST00000308159	NM_014669.4	530	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10769.1	1588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGCGGCTC	NONE	byFrequency	.	hmmpanther:PTHR11225,Pfam_domain:PF04097	.	.	ENSP00000310668	.	14/22	.	.	.	.	.	.	.	.	rs750107617	14/22	PASS	ENST00000308159	Transcript	.	.	ENSG00000102900	28958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NUP93_HUMAN	NUP93	HGNC	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN	.	UPI0000044E0C	SNV	NUP93,missense_variant,p.Arg407Trp,ENST00000564887,;NUP93,missense_variant,p.Arg407Trp,ENST00000542526,;NUP93,missense_variant,p.Arg530Trp,ENST00000569842,;NUP93,missense_variant,p.Arg530Trp,ENST00000308159,;NUP93,upstream_gene_variant,,ENST00000563486,;NUP93,upstream_gene_variant,,ENST00000569322,;NUP93,downstream_gene_variant,,ENST00000563858,;NUP93,upstream_gene_variant,,ENST00000563405,;NUP93,downstream_gene_variant,,ENST00000563437,;	1709	68	75	SUCCESS
PSKH1	5681	.	GRCh37	16	67943502	67943502	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	97	0	ENST00000291041.5:c.850G>T	p.Gly284Cys	p.G284C	ENST00000291041	NM_006742.2	284	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS10851.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGGCGTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF142,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000291041	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000291041	Transcript	.	.	ENSG00000159792	9529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KPSH1_HUMAN	PSKH1	HGNC	.	.	UPI000012DFE0	SNV	PSKH1,missense_variant,p.Gly284Cys,ENST00000291041,;PSKH1,non_coding_transcript_exon_variant,,ENST00000570631,;	1020	97	114	SUCCESS
PDPR	55066	.	GRCh37	16	70170122	70170122	+	synonymous_variant	Silent	SNP	G	G	A	rs748761290	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	6	126	0	ENST00000288050.4:c.1023G>A	p.Arg341=	p.R341=	ENST00000288050	NM_017990.3	341	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45520.1	1023	MUTECT|MUSE	.	CTGAGGAGGAT	NONE	.	.	hmmpanther:PTHR13847:SF146,hmmpanther:PTHR13847,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000288050	.	10/19	.	.	.	.	.	.	.	.	rs748761290	10/19	PASS	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,synonymous_variant,p.%3D,ENST00000288050,;PDPR,synonymous_variant,p.%3D,ENST00000398122,;PDPR,synonymous_variant,p.%3D,ENST00000568530,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,synonymous_variant,p.%3D,ENST00000565186,;PDPR,non_coding_transcript_exon_variant,,ENST00000561920,;	1980	126	132	SUCCESS
HYDIN	54768	.	GRCh37	16	70863697	70863697	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	45	0	ENST00000393567.2:c.13936A>G	p.Thr4646Ala	p.T4646A	ENST00000393567	NM_001270974.1	4646	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59269.1	13936	RADIA|MUTECT|VARSCANS	.	CTGCGTGTGCT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	81/86	.	.	.	.	.	.	.	.	.	81/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.801)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Thr4646Ala,ENST00000393567,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	14087	45	49	SUCCESS
KCNG4	93107	.	GRCh37	16	84270993	84270993	+	synonymous_variant	Silent	SNP	C	C	A	rs374330675	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	39	107	1	ENST00000308251.4:c.99G>T	p.Thr33=	p.T33=	ENST00000308251	NM_172347.2	33	acG/acT	0	T:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS10945.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGCGTCTC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000312129	.	2/3	.	.	.	.	.	.	.	.	rs374330675,COSM3795192	2/3	PASS	ENST00000308251	Transcript	.	.	ENSG00000168418	19697	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNG4_HUMAN	KCNG4	HGNC	Q547S7_HUMAN	.	UPI00000557D8	SNV	KCNG4,synonymous_variant,p.%3D,ENST00000568181,;KCNG4,synonymous_variant,p.%3D,ENST00000308251,;	168	108	121	SUCCESS
SUPT6H	6830	.	GRCh37	17	27023949	27023949	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	82	164	0	ENST00000314616.6:c.4058G>A	p.Gly1353Asp	p.G1353D	ENST00000314616	NM_003170.3	1353	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32596.1	4058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGTGATG	NONE	.	.	Superfamily_domains:SSF55550,SMART_domains:SM00252,PIRSF_domain:PIRSF036947,Gene3D:3.30.505.10,Pfam_domain:PF14633,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145,PROSITE_profiles:PS50001	.	.	ENSP00000319104	.	30/37	.	.	.	.	.	.	.	.	.	30/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,missense_variant,p.Gly1353Asp,ENST00000314616,;SUPT6H,missense_variant,p.Gly1353Asp,ENST00000347486,;SUPT6H,upstream_gene_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000580471,;SUPT6H,upstream_gene_variant,,ENST00000583340,;	4341	164	242	SUCCESS
ANKFY1	51479	.	GRCh37	17	4086813	4086825	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCCCAGCAGCT	GAGCCCAGCAGCT	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	GAGCCCAGCAGCT	GAGCCCAGCAGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	66	0	ENST00000341657.4:c.1820_1832del	p.Gln607LeufsTer38	p.Q607Lfs*38	ENST00000341657	NM_016376.3	607	cAGCTGCTGGGCTCt/ct	0	.	.	.	.	.	-	QLLGS/X	protein_coding	YES	CCDS58502.1	1946-1958	VARSCANI*|PINDEL	.	GCTCCAGAGCCCAGCAGCTGGGCT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	deletion	ANKFY1,frameshift_variant,p.Gln607LeufsTer38,ENST00000341657,;ANKFY1,frameshift_variant,p.Gln607LeufsTer38,ENST00000574367,;ANKFY1,frameshift_variant,p.Gln649LeufsTer38,ENST00000570535,;ANKFY1,coding_sequence_variant,,ENST00000574736,;CYB5D2,intron_variant,,ENST00000573984,;Y_RNA,upstream_gene_variant,,ENST00000516003,;ANKFY1,downstream_gene_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,downstream_gene_variant,,ENST00000575509,;ANKFY1,upstream_gene_variant,,ENST00000572564,;ANKFY1,upstream_gene_variant,,ENST00000571547,;	2063-2075	66	75	SUCCESS
MYBBP1A	10514	.	GRCh37	17	4446343	4446343	+	synonymous_variant	Silent	SNP	G	G	A	rs769485013	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	49	0	ENST00000254718.4:c.2757C>T	p.Thr919=	p.T919=	ENST00000254718		919	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42238.1	2757	MUTECT|MUSE|VARSCANS	.	AGGGCGGTGGG	NONE	byFrequency	.	hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213,Superfamily_domains:SSF48371	.	.	ENSP00000370968	.	20/27	.	.	.	.	.	.	.	.	rs769485013,COSM1521355	20/27	PASS	ENST00000381556	Transcript	.	.	ENSG00000132382	7546	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	MBB1A_HUMAN	MYBBP1A	HGNC	.	.	UPI0000551C8B	SNV	MYBBP1A,synonymous_variant,p.%3D,ENST00000254718,;MYBBP1A,synonymous_variant,p.%3D,ENST00000381556,;MYBBP1A,synonymous_variant,p.%3D,ENST00000573116,;MYBBP1A,intron_variant,,ENST00000573723,;MYBBP1A,intron_variant,,ENST00000572759,;SPNS2,downstream_gene_variant,,ENST00000329078,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000571368,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574547,;MYBBP1A,downstream_gene_variant,,ENST00000573175,;SPNS2,downstream_gene_variant,,ENST00000570979,;MYBBP1A,upstream_gene_variant,,ENST00000574934,;MYBBP1A,upstream_gene_variant,,ENST00000575662,;MYBBP1A,upstream_gene_variant,,ENST00000574167,;MYBBP1A,downstream_gene_variant,,ENST00000571354,;	2819	49	67	SUCCESS
TEX2	55852	.	GRCh37	17	62248484	62248484	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	27	118	0	ENST00000583097.1:c.2647T>A	p.Phe883Ile	p.F883I	ENST00000583097		883	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11658.1	2668	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAAGGCCT	NONE	.	.	hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2,Pfam_domain:PF10296	.	.	ENSP00000258991	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.352)	.	tolerated(0.09)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Phe883Ile,ENST00000584379,;TEX2,missense_variant,p.Phe890Ile,ENST00000258991,;TEX2,missense_variant,p.Phe883Ile,ENST00000583097,;TEX2,missense_variant,p.Phe384Ile,ENST00000583501,;TEX2,non_coding_transcript_exon_variant,,ENST00000577489,;	2753	118	194	SUCCESS
SDK2	54549	.	GRCh37	17	71443757	71443757	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs568104292	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	357	52	213	0	ENST00000392650.3:c.610G>A	p.Glu204Lys	p.E204K	ENST00000392650	NM_001144952.1	204	Gag/Aag	0	.	G:0	.	G:0	.	T	E/K	protein_coding	YES	CCDS45769.1	610	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCCACGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,SMART_domains:SM00409	G:0	.	ENSP00000376421	G:0	5/45	.	.	.	.	.	.	.	.	rs568104292	5/45	PASS	ENST00000392650	Transcript	.	G:0.0004	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	G:0.002	tolerated(0.56)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Glu204Lys,ENST00000388726,;SDK2,missense_variant,p.Glu204Lys,ENST00000392650,;	611	213	409	SUCCESS
KIF19	124602	.	GRCh37	17	72342641	72342641	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	144	150	0	ENST00000389916.4:c.902G>T	p.Ser301Ile	p.S301I	ENST00000389916	NM_153209.3	301	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS32718.2	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGCAAGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000374566	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ser301Ile,ENST00000389916,;KIF19,missense_variant,p.Ser259Ile,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1040	150	259	SUCCESS
ZBTB4	57659	.	GRCh37	17	7370078	7370078	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1237090541	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	34	0	ENST00000311403.4:c.43G>A	p.Ala15Thr	p.A15T	ENST00000311403	NM_020899.3	15	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11107.1	43	RADIA|MUSE	.	GACGGCGGGGG	NONE	.	.	hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF0,Gene3D:3.30.710.10,Superfamily_domains:SSF54695	.	.	ENSP00000307858	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000311403	Transcript	.	.	ENSG00000174282	23847	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	ZBTB4_HUMAN	ZBTB4	HGNC	B3KVD4_HUMAN	.	UPI00001A9C9A	SNV	ZBTB4,missense_variant,p.Ala15Thr,ENST00000311403,;ZBTB4,missense_variant,p.Ala15Thr,ENST00000380599,;	383	34	41	SUCCESS
ACTG1	71	.	GRCh37	17	79479128	79479128	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	41	0	ENST00000331925.2:c.164G>T	p.Gly55Val	p.G55V	ENST00000331925	NM_001614.3	55	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11782.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGCCCACG	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF187,PROSITE_patterns:PS00406,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000458162	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000575842	Transcript	.	.	ENSG00000184009	144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ACTG_HUMAN	ACTG1	HGNC	Q9UE89_HUMAN,Q96FU6_HUMAN,Q96DE1_HUMAN,Q6PJ43_HUMAN,Q562Z7_HUMAN,I3L3R2_HUMAN,I3L3I0_HUMAN,I3L1U9_HUMAN,B4E3A4_HUMAN,B3KWQ3_HUMAN,A5GZ75_HUMAN,A4UCT3_HUMAN,A1E282_HUMAN	.	UPI0000000C38	SNV	ACTG1,missense_variant,p.Gly55Val,ENST00000575994,;ACTG1,missense_variant,p.Gly55Val,ENST00000575842,;ACTG1,missense_variant,p.Gly46Val,ENST00000571691,;ACTG1,missense_variant,p.Gly55Val,ENST00000573283,;ACTG1,missense_variant,p.Gly55Val,ENST00000571721,;ACTG1,missense_variant,p.Gly55Val,ENST00000331925,;ACTG1,missense_variant,p.Gly55Val,ENST00000575087,;ACTG1,missense_variant,p.Gly55Val,ENST00000575659,;ACTG1,missense_variant,p.Gly55Val,ENST00000570382,;AC139149.1,upstream_gene_variant,,ENST00000584254,;RP13-766D20.2,upstream_gene_variant,,ENST00000430912,;ACTG1,missense_variant,p.Gly55Val,ENST00000572105,;ACTG1,missense_variant,p.Gly55Val,ENST00000576544,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576214,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576209,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576917,;ACTG1,upstream_gene_variant,,ENST00000574671,;RP13-766D20.1,upstream_gene_variant,,ENST00000448147,;	591	41	63	SUCCESS
PER1	5187	.	GRCh37	17	8047144	8047144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	32	0	ENST00000317276.4:c.2512A>G	p.Lys838Glu	p.K838E	ENST00000317276	NM_002616.2	838	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS11131.1	2512	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTTGGATC	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.48)	.	deleterious(0.03)	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	SNV	PER1,missense_variant,p.Lys838Glu,ENST00000317276,;PER1,missense_variant,p.Lys815Glu,ENST00000581082,;PER1,downstream_gene_variant,,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000583559,;PER1,non_coding_transcript_exon_variant,,ENST00000578089,;PER1,non_coding_transcript_exon_variant,,ENST00000578950,;PER1,intron_variant,,ENST00000582719,;PER1,downstream_gene_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000585284,;PER1,upstream_gene_variant,,ENST00000579098,;	2750	32	36	SUCCESS
CEP76	79959	.	GRCh37	18	12699183	12699183	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	62	0	ENST00000262127.2:c.315G>A	p.Arg105=	p.R105=	ENST00000262127	NM_024899.3	105	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11861.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTCCGTGT	NONE	.	.	hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF5,Pfam_domain:PF15627	.	.	ENSP00000262127	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000262127	Transcript	.	.	ENSG00000101624	25727	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEP76_HUMAN	CEP76	HGNC	.	.	UPI00000715E7	SNV	CEP76,synonymous_variant,p.%3D,ENST00000262127,;PSMG2,intron_variant,,ENST00000585331,;PSMG2,intron_variant,,ENST00000586445,;CEP76,intron_variant,,ENST00000423709,;CEP76,upstream_gene_variant,,ENST00000587666,;CEP76,upstream_gene_variant,,ENST00000591034,;PSMG2,upstream_gene_variant,,ENST00000317615,;CEP76,upstream_gene_variant,,ENST00000585751,;PSMG2,upstream_gene_variant,,ENST00000590217,;CEP76,non_coding_transcript_exon_variant,,ENST00000592660,;CEP76,intron_variant,,ENST00000589875,;CEP76,intron_variant,,ENST00000586887,;CEP76,3_prime_UTR_variant,,ENST00000590143,;CEP76,intron_variant,,ENST00000587929,;CEP76,intron_variant,,ENST00000593250,;PSMG2,upstream_gene_variant,,ENST00000586587,;	541	62	95	SUCCESS
DSG4	147409	.	GRCh37	18	28971168	28971168	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	47	0	ENST00000308128.4:c.812A>C	p.Lys271Thr	p.K271T	ENST00000308128	NM_177986.3	271	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS45845.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAAACTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000352785	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000359747	Transcript	.	.	ENSG00000175065	21307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.12)	.	DSG4_HUMAN	DSG4	HGNC	.	.	UPI000035DB4E	SNV	DSG4,missense_variant,p.Lys271Thr,ENST00000308128,;DSG4,missense_variant,p.Lys271Thr,ENST00000359747,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;	841	47	82	SUCCESS
DSG2	1829	.	GRCh37	18	29115251	29115251	+	synonymous_variant	Silent	SNP	T	T	C	rs367548984	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	82	0	ENST00000261590.8:c.1299T>C	p.Asp433=	p.D433=	ENST00000261590	NM_001943.3	433	gaT/gaC	0	C:0.0003	.	.	.	.	C	D	protein_coding	YES	CCDS42423.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATAGAGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	C:0	ENSP00000261590	.	10/15	.	.	.	.	.	.	.	.	rs367548984	10/15	PASS	ENST00000261590	Transcript	.	.	ENSG00000046604	3049	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSG2_HUMAN	DSG2	HGNC	.	.	UPI0000048E38	SNV	DSG2,synonymous_variant,p.%3D,ENST00000261590,;	1508	82	72	SUCCESS
RPRD1A	55197	.	GRCh37	18	33573185	33573185	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758740817	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	34	92	0	ENST00000357384.4:c.868T>C	p.Ser290Pro	p.S290P	ENST00000357384		290	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS11917.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGATAAGT	NONE	byFrequency	.	hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF2	.	.	ENSP00000381984	.	7/7	.	.	.	.	.	.	.	.	rs758740817	7/7	PASS	ENST00000399022	Transcript	.	.	ENSG00000141425	25560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	RPR1A_HUMAN	RPRD1A	HGNC	K7ER50_HUMAN	.	UPI0000036029	SNV	RPRD1A,missense_variant,p.Ser254Pro,ENST00000588737,;RPRD1A,missense_variant,p.Ser254Pro,ENST00000337059,;RPRD1A,missense_variant,p.Ser27Pro,ENST00000587563,;RPRD1A,missense_variant,p.Ser254Pro,ENST00000590898,;RPRD1A,missense_variant,p.Ser290Pro,ENST00000357384,;RPRD1A,missense_variant,p.Ser290Pro,ENST00000399022,;RPRD1A,upstream_gene_variant,,ENST00000585879,;	1040	92	114	SUCCESS
MRO	83876	.	GRCh37	18	48346357	48346367	+	intron_variant	Intron	DEL	TTCTGCAGAAA	TTCTGCAGAAA	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	TTCTGCAGAAA	TTCTGCAGAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	89	17	97	0	ENST00000256425.2:c.-126-295_-126-285del		p.*42*	ENST00000256425				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45868.1	.	INDELOCATOR|VARSCANI	.	GACACTTTCTGCAGAAATTCTG	NONE	.	.	.	.	.	ENSP00000397900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000436348	Transcript	.	.	ENSG00000134042	24121	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSTRO_HUMAN	MRO	HGNC	.	.	UPI000174C6BE	deletion	MRO,5_prime_UTR_variant,,ENST00000431965,;MRO,5_prime_UTR_variant,,ENST00000436348,;MRO,intron_variant,,ENST00000428869,;MRO,intron_variant,,ENST00000588444,;MRO,intron_variant,,ENST00000256425,;MRO,upstream_gene_variant,,ENST00000398439,;MRO,upstream_gene_variant,,ENST00000592966,;MRO,upstream_gene_variant,,ENST00000587291,;MRO,5_prime_UTR_variant,,ENST00000585524,;MRO,5_prime_UTR_variant,,ENST00000590988,;HNRNPA3P16,downstream_gene_variant,,ENST00000591842,;RPL17P46,upstream_gene_variant,,ENST00000496512,;	68-78	98	106	SUCCESS
WIZ	58525	.	GRCh37	19	15538010	15538010	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	80	1	ENST00000263381.7:c.864C>T	p.Gly288=	p.G288=	ENST00000263381	NM_021241.2	288	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42516.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGCCCGG	NONE	.	.	hmmpanther:PTHR24402:SF162,hmmpanther:PTHR24402,Low_complexity_(Seg):seg	.	.	ENSP00000263381	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000263381	Transcript	.	.	ENSG00000011451	30917	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIZ_HUMAN	WIZ	HGNC	M0QXF8_HUMAN	.	UPI000041F888	SNV	WIZ,synonymous_variant,p.%3D,ENST00000545156,;WIZ,synonymous_variant,p.%3D,ENST00000263381,;WIZ,synonymous_variant,p.%3D,ENST00000599686,;WIZ,synonymous_variant,p.%3D,ENST00000389282,;WIZ,synonymous_variant,p.%3D,ENST00000599910,;WIZ,upstream_gene_variant,,ENST00000600632,;	1078	81	97	SUCCESS
CYP4F2	8529	.	GRCh37	19	16000329	16000329	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	100	163	1	ENST00000221700.6:c.822G>A	p.Arg274=	p.R274=	ENST00000221700	NM_001082.3	274	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12336.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGCCGCTC	NONE	.	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF45,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000221700	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000221700	Transcript	1	.	ENSG00000186115	2645	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4F2_HUMAN	CYP4F2	HGNC	K7EK90_HUMAN	.	UPI0000052BE6	SNV	CYP4F2,synonymous_variant,p.%3D,ENST00000221700,;CYP4F2,synonymous_variant,p.%3D,ENST00000011989,;CYP4F2,upstream_gene_variant,,ENST00000589654,;CYP4F2,downstream_gene_variant,,ENST00000586927,;CYP4F2,3_prime_UTR_variant,,ENST00000587671,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000608168,;CYP4F2,upstream_gene_variant,,ENST00000592710,;	918	164	238	SUCCESS
ZNF99	7652	.	GRCh37	19	22940609	22940609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	19	0	ENST00000596209.1:c.2102G>T	p.Gly701Val	p.G701V	ENST00000596209	NM_001080409.2	701	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS59369.1	2102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCCAGTA	BUFFER|p.K611E|c.1831A>G|3	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Gly610Val,ENST00000397104,;ZNF99,missense_variant,p.Gly701Val,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	2193	19	30	SUCCESS
ZNF99	7652	.	GRCh37	19	22940610	22940610	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1568382723	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	20	0	ENST00000596209.1:c.2101G>T	p.Gly701Ter	p.G701*	ENST00000596209	NM_001080409.2	701	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS59369.1	2101	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCAGTAT	BUFFER|p.K611E|c.1831A>G|3	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,stop_gained,p.Gly610Ter,ENST00000397104,;ZNF99,stop_gained,p.Gly701Ter,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	2192	20	31	SUCCESS
SARS2	54938	.	GRCh37	19	39421333	39421333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773524954	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	51	0	ENST00000221431.6:c.44G>A	p.Arg15His	p.R15H	ENST00000221431	NM_017827.3	15	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS54265.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGACGAGTC	NONE	byFrequency	.	.	.	.	ENSP00000472847	.	1/17	.	.	.	.	.	.	.	.	rs773524954	1/17	PASS	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.26)	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,missense_variant,p.Arg15His,ENST00000600042,;SARS2,missense_variant,p.Arg15His,ENST00000221431,;SARS2,missense_variant,p.Arg15His,ENST00000430193,;MRPS12,5_prime_UTR_variant,,ENST00000308018,;SARS2,intron_variant,,ENST00000448145,;CTC-360G5.8,intron_variant,,ENST00000599996,;MRPS12,upstream_gene_variant,,ENST00000407800,;SARS2,upstream_gene_variant,,ENST00000594171,;MRPS12,upstream_gene_variant,,ENST00000402029,;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;SARS2,missense_variant,p.Arg15His,ENST00000455102,;SARS2,missense_variant,p.Arg15His,ENST00000598343,;SARS2,missense_variant,p.Arg15His,ENST00000593754,;SARS2,non_coding_transcript_exon_variant,,ENST00000598598,;MRPS12,upstream_gene_variant,,ENST00000598734,;	69	51	61	SUCCESS
SPTBN4	57731	.	GRCh37	19	41009866	41009866	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775127507	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	60	1	ENST00000352632.3:c.1492G>A	p.Glu498Lys	p.E498K	ENST00000352632		498	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12559.1	1492	MUTECT|MUSE	.	CAGCCGAAGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000263373	.	12/36	.	.	.	.	.	.	.	.	rs775127507	12/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.572)	.	deleterious(0)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Glu498Lys,ENST00000338932,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000352632,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000598249,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000595535,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000344104,;SPTBN4,downstream_gene_variant,,ENST00000598775,;	1578	61	47	SUCCESS
ZNF180	7733	.	GRCh37	19	44980916	44980916	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	57	0	ENST00000221327.4:c.1782A>T	p.Val594=	p.V594=	ENST00000221327	NM_013256.4	594	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12639.1	1782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTACAAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221327	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000221327	Transcript	.	.	ENSG00000167384	12970	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN180_HUMAN	ZNF180	HGNC	K7EQX9_HUMAN,K7EQP0_HUMAN	.	UPI000013C7BD	SNV	ZNF180,synonymous_variant,p.%3D,ENST00000592529,;ZNF180,synonymous_variant,p.%3D,ENST00000391956,;ZNF180,synonymous_variant,p.%3D,ENST00000221327,;ZNF180,downstream_gene_variant,,ENST00000587047,;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,downstream_gene_variant,,ENST00000591064,;AC069278.4,upstream_gene_variant,,ENST00000591684,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,3_prime_UTR_variant,,ENST00000592095,;ZNF180,3_prime_UTR_variant,,ENST00000590088,;ZNF285B,downstream_gene_variant,,ENST00000561698,;ZNF285B,downstream_gene_variant,,ENST00000318605,;	2064	57	86	SUCCESS
TICAM1	148022	.	GRCh37	19	4818030	4818030	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	35	0	ENST00000248244.5:c.360A>C	p.Glu120Asp	p.E120D	ENST00000248244	NM_182919.3	120	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS12136.1	360	MUTECT|MUSE	.	ACGGCTTCCTG	NONE	.	.	PIRSF_domain:PIRSF037744	.	.	ENSP00000248244	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000248244	Transcript	1	.	ENSG00000127666	18348	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.093)	.	deleterious(0.01)	.	TCAM1_HUMAN	TICAM1	HGNC	.	.	UPI000000D72E	SNV	TICAM1,missense_variant,p.Glu120Asp,ENST00000248244,;	590	35	28	SUCCESS
KCNA7	3743	.	GRCh37	19	49573780	49573780	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376824241	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	8	100	0	ENST00000221444.1:c.911C>T	p.Thr304Met	p.T304M	ENST00000221444	NM_031886.2	304	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS12755.1	911	MUTECT|MUSE	.	GAAGCGTCTGG	BUFFER|p.R306W|c.916C>T|3	byCluster	.	hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	A:0.0001	ENSP00000221444	.	2/2	.	.	.	.	.	.	.	.	rs376824241,COSM1255232	2/2	PASS	ENST00000221444	Transcript	.	.	ENSG00000104848	6226	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	KCNA7_HUMAN	KCNA7	HGNC	.	.	UPI000004F638	SNV	KCNA7,missense_variant,p.Thr304Met,ENST00000221444,;	1267	101	120	SUCCESS
LENG8	114823	.	GRCh37	19	54967843	54967843	+	synonymous_variant	Silent	SNP	C	C	A	rs747559717	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	47	0	ENST00000326764.5:c.1474C>A	p.Arg492=	p.R492=	ENST00000326764	NM_052925.2	492	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12894.1	1474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCGAAAG	NONE	byFrequency	.	hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	11/16	.	.	.	.	.	.	.	.	rs747559717	11/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,synonymous_variant,p.%3D,ENST00000326764,;LENG8,synonymous_variant,p.%3D,ENST00000431846,;LENG8,synonymous_variant,p.%3D,ENST00000376526,;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,downstream_gene_variant,,ENST00000462541,;	1953	47	74	SUCCESS
SYT5	6861	.	GRCh37	19	55686689	55686689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	30	0	ENST00000354308.3:c.559G>T	p.Gly187Trp	p.G187W	ENST00000354308	NM_003180.2	187	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS12919.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCCAGCT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00399	.	.	ENSP00000346265	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000354308	Transcript	.	.	ENSG00000129990	11513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SYT5_HUMAN	SYT5	HGNC	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN	.	UPI000013C56F	SNV	SYT5,missense_variant,p.Gly187Trp,ENST00000537500,;SYT5,missense_variant,p.Gly187Trp,ENST00000354308,;SYT5,missense_variant,p.Gly184Trp,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000590859,;SYT5,downstream_gene_variant,,ENST00000589172,;SYT5,downstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,3_prime_UTR_variant,,ENST00000585461,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,non_coding_transcript_exon_variant,,ENST00000592956,;	929	30	43	SUCCESS
TUBB4A	10382	.	GRCh37	19	6495192	6495192	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	32	125	0	ENST00000264071.2:c.1318G>C	p.Glu440Gln	p.E440Q	ENST00000264071		440	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS12168.1	1318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588	.	.	ENSP00000264071	.	4/4	.	.	.	.	.	.	.	.	COSM3540955	4/4	PASS	ENST00000264071	Transcript	1	.	ENSG00000104833	20774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.09)	1	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,missense_variant,p.Glu440Gln,ENST00000264071,;TUBB4A,missense_variant,p.Glu440Gln,ENST00000540257,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000594290,;TUBB4A,downstream_gene_variant,,ENST00000595324,;	1690	125	143	SUCCESS
TUBB4A	10382	.	GRCh37	19	6495193	6495193	+	synonymous_variant	Silent	SNP	C	C	G	rs201070507	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	34	125	0	ENST00000264071.2:c.1317G>C	p.Ala439=	p.A439=	ENST00000264071		439	gcG/gcC	0	T:0	.	.	.	.	G	A	protein_coding	YES	CCDS12168.1	1317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCGCCTC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588	.	T:0.0001	ENSP00000264071	.	4/4	.	.	.	.	.	.	.	.	rs201070507	4/4	PASS	ENST00000264071	Transcript	1	.	ENSG00000104833	20774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,synonymous_variant,p.%3D,ENST00000264071,;TUBB4A,synonymous_variant,p.%3D,ENST00000540257,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000594290,;TUBB4A,downstream_gene_variant,,ENST00000595324,;	1689	125	143	SUCCESS
C3	718	.	GRCh37	19	6693493	6693493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	24	0	ENST00000245907.6:c.3160A>G	p.Thr1054Ala	p.T1054A	ENST00000245907	NM_000064.2	1054	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32883.1	3160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTGTACC	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000245907	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.35)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Thr1054Ala,ENST00000245907,;C3,upstream_gene_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,;	3253	24	34	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7504866	7504866	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745388682	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	104	0	ENST00000359920.6:c.40G>T	p.Ala14Ser	p.A14S	ENST00000359920	NM_001130955.1	14	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45946.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGCTGCT	NONE	.	.	.	.	.	ENSP00000352995	.	1/20	.	.	.	.	.	.	.	.	rs745388682	1/20	PASS	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	deleterious_low_confidence(0.02)	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,missense_variant,p.Ala14Ser,ENST00000359920,;ARHGEF18,intron_variant,,ENST00000319670,;CTD-2207O23.3,intron_variant,,ENST00000593531,;ARHGEF18,intron_variant,,ENST00000599752,;ARHGEF18,upstream_gene_variant,,ENST00000595600,;	293	104	83	SUCCESS
PTCHD2	0	.	GRCh37	1	11589684	11589684	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	264	109	266	1	ENST00000294484.6:c.2870T>G	p.Leu957Arg	p.L957R	ENST00000294484	NM_020780.1	957	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS41247.1	2870	RADIA|SOMATICSNIPER|VARSCANS	.	CTGCCTGCTTA	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.41)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Leu957Arg,ENST00000389575,;PTCHD2,missense_variant,p.Leu957Arg,ENST00000294484,;PTCHD2,upstream_gene_variant,,ENST00000304391,;	3008	267	373	SUCCESS
CHD1L	9557	.	GRCh37	1	146757007	146757008	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	291	32	119	0	ENST00000369258.4:c.1862dup	p.Gly623ArgfsTer47	p.G623Rfs*47	ENST00000369258	NM_001256336.1	621	atc/aTtc	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS927.1	1861-1862	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTCATCCCA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF558	.	.	ENSP00000358262	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000369258	Transcript	.	.	ENSG00000131778	1916	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD1L_HUMAN	CHD1L	HGNC	B5MDZ7_HUMAN	.	UPI000020566F	insertion	CHD1L,frameshift_variant,p.Gly419ArgfsTer47,ENST00000369259,;CHD1L,frameshift_variant,p.Gly623ArgfsTer47,ENST00000369258,;CHD1L,frameshift_variant,p.Gly529ArgfsTer47,ENST00000431239,;CHD1L,frameshift_variant,p.Gly342ArgfsTer47,ENST00000361293,;CHD1L,non_coding_transcript_exon_variant,,ENST00000467213,;	1881-1882	119	323	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155932460	155932460	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	16	142	0	ENST00000361247.4:c.1025G>A	p.Cys342Tyr	p.C342Y	ENST00000361247	NM_001162384.1	342	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS53376.1	1025	MUTECT|MUSE|VARSCANS	.	GGCTGCAGAAC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000354837	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.424)	.	deleterious(0)	.	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	SNV	ARHGEF2,missense_variant,p.Cys342Tyr,ENST00000361247,;ARHGEF2,missense_variant,p.Cys343Tyr,ENST00000368315,;ARHGEF2,missense_variant,p.Cys314Tyr,ENST00000313695,;ARHGEF2,missense_variant,p.Cys314Tyr,ENST00000368316,;ARHGEF2,missense_variant,p.Cys341Tyr,ENST00000313667,;ARHGEF2,missense_variant,p.Cys387Tyr,ENST00000462460,;ARHGEF2,downstream_gene_variant,,ENST00000471589,;ARHGEF2,downstream_gene_variant,,ENST00000497907,;ARHGEF2,downstream_gene_variant,,ENST00000609707,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,upstream_gene_variant,,ENST00000474428,;ARHGEF2,downstream_gene_variant,,ENST00000476273,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000608543,;ARHGEF2,downstream_gene_variant,,ENST00000470874,;ARHGEF2,upstream_gene_variant,,ENST00000470975,;	1125	142	207	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156937793	156937793	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	34	132	0	ENST00000361409.2:c.829T>G	p.Ser277Ala	p.S277A	ENST00000361409	NM_014784.3	277	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS1163.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGAGGGGA	NONE	.	.	hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825	.	.	ENSP00000357177	.	11/41	.	.	.	.	.	.	.	.	.	11/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.18)	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,missense_variant,p.Ser277Ala,ENST00000361409,;ARHGEF11,missense_variant,p.Ser317Ala,ENST00000368194,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000483682,;ARHGEF11,upstream_gene_variant,,ENST00000486670,;	1989	132	157	SUCCESS
FCRL5	83416	.	GRCh37	1	157494326	157494326	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	14	123	0	ENST00000361835.3:c.1982T>A	p.Leu661His	p.L661H	ENST00000361835	NM_001195388.1	661	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS1165.1	1982	MUTECT|MUSE	.	AGGTGAGGATG	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13927,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Leu661His,ENST00000361835,;FCRL5,missense_variant,p.Leu661His,ENST00000368190,;FCRL5,missense_variant,p.Leu661His,ENST00000356953,;FCRL5,missense_variant,p.Leu576His,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	2140	123	235	SUCCESS
SELP	6403	.	GRCh37	1	169599347	169599347	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	81	0	ENST00000263686.6:c.-35G>T		p.*12*	ENST00000263686	NM_003005.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1282.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCCCAAC	NONE	.	.	.	.	.	ENSP00000263686	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000263686	Transcript	.	.	ENSG00000174175	10721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYAM3_HUMAN	SELP	HGNC	Q6ULR6_HUMAN	.	UPI0000204D4A	SNV	SELP,5_prime_UTR_variant,,ENST00000263686,;SELP,5_prime_UTR_variant,,ENST00000367793,;SELP,5_prime_UTR_variant,,ENST00000367794,;SELP,5_prime_UTR_variant,,ENST00000367792,;SELP,5_prime_UTR_variant,,ENST00000367788,;SELP,5_prime_UTR_variant,,ENST00000367791,;SELP,upstream_gene_variant,,ENST00000458599,;SELP,upstream_gene_variant,,ENST00000367795,;SELP,upstream_gene_variant,,ENST00000367786,;	4	81	97	SUCCESS
SERPINC1	462	.	GRCh37	1	173880936	173880936	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1572090079	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	67	116	0	ENST00000367698.3:c.624+1G>A		p.X208_splice	ENST00000367698	NM_000488.3	208		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1313.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACCTTGA	NONE	.	.	.	.	.	ENSP00000356671	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367698	Transcript	.	.	ENSG00000117601	775	.	.	HIGH	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANT3_HUMAN	SERPINC1	HGNC	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN	.	UPI000002C0C1	SNV	SERPINC1,splice_donor_variant,,ENST00000367698,;SERPINC1,splice_donor_variant,,ENST00000487183,;SERPINC1,downstream_gene_variant,,ENST00000494024,;	.	116	165	SUCCESS
NPL	80896	.	GRCh37	1	182794948	182794948	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	19	0	ENST00000258317.2:c.771C>G	p.Val257=	p.V257=	ENST00000258317		257	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS1350.1	771	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCAAACT	NONE	.	.	hmmpanther:PTHR12128:SF21,hmmpanther:PTHR12128,Pfam_domain:PF00701,Gene3D:3.20.20.70,PIRSF_domain:PIRSF001365,Superfamily_domains:SSF51569	.	.	ENSP00000356524	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000367553	Transcript	.	.	ENSG00000135838	16781	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPL_HUMAN	NPL	HGNC	.	.	UPI00000728AB	SNV	NPL,synonymous_variant,p.%3D,ENST00000367552,;NPL,synonymous_variant,p.%3D,ENST00000258317,;NPL,synonymous_variant,p.%3D,ENST00000367554,;NPL,synonymous_variant,p.%3D,ENST00000367553,;NPL,synonymous_variant,p.%3D,ENST00000367555,;NPL,non_coding_transcript_exon_variant,,ENST00000463899,;NPL,non_coding_transcript_exon_variant,,ENST00000488424,;NPL,intron_variant,,ENST00000460179,;	815	19	38	SUCCESS
NFASC	23114	.	GRCh37	1	204970404	204970404	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	22	168	0	ENST00000339876.6:c.3126G>C	p.Glu1042Asp	p.E1042D	ENST00000339876	NM_001005388.2	1042	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS53460.1	3126	MUTECT|MUSE|VARSCANS	.	GTTGAGTACAT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50853	.	.	ENSP00000344786	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000339876	Transcript	.	.	ENSG00000163531	29866	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0)	.	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,missense_variant,p.Glu1070Asp,ENST00000367170,;NFASC,missense_variant,p.Glu1042Asp,ENST00000401399,;NFASC,missense_variant,p.Glu89Asp,ENST00000413225,;NFASC,missense_variant,p.Glu1134Asp,ENST00000367171,;NFASC,missense_variant,p.Glu1042Asp,ENST00000339876,;NFASC,missense_variant,p.Glu1149Asp,ENST00000367172,;NFASC,intron_variant,,ENST00000404076,;NFASC,intron_variant,,ENST00000447819,;NFASC,intron_variant,,ENST00000338515,;NFASC,intron_variant,,ENST00000360049,;NFASC,intron_variant,,ENST00000425360,;NFASC,intron_variant,,ENST00000404907,;NFASC,intron_variant,,ENST00000539706,;NFASC,intron_variant,,ENST00000367173,;NFASC,intron_variant,,ENST00000430393,;NFASC,intron_variant,,ENST00000513543,;NFASC,intron_variant,,ENST00000367169,;NFASC,intron_variant,,ENST00000338586,;NFASC,intron_variant,,ENST00000495396,;NFASC,intron_variant,,ENST00000404977,;NFASC,downstream_gene_variant,,ENST00000492085,;NFASC,intron_variant,,ENST00000504476,;	3454	168	258	SUCCESS
PFKFB2	5208	.	GRCh37	1	207241653	207241653	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	44	0	ENST00000367080.3:c.986C>T	p.Ala329Val	p.A329V	ENST00000367080	NM_006212.2	329	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31004.1	986	MUTECT|MUSE	.	TGATGCTGTGA	NONE	.	.	hmmpanther:PTHR10606:SF13,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,PIRSF_domain:PIRSF000709,SMART_domains:SM00855,Superfamily_domains:SSF53254,Prints_domain:PR00991	.	.	ENSP00000356047	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000367080	Transcript	.	.	ENSG00000123836	8873	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	F262_HUMAN	PFKFB2	HGNC	B0FLL2_HUMAN	.	UPI000012A3F0	SNV	PFKFB2,missense_variant,p.Ala143Val,ENST00000541914,;PFKFB2,missense_variant,p.Ala329Val,ENST00000367079,;PFKFB2,missense_variant,p.Ala329Val,ENST00000367080,;PFKFB2,missense_variant,p.Ala231Val,ENST00000411990,;PFKFB2,missense_variant,p.Ala296Val,ENST00000545806,;PFKFB2,upstream_gene_variant,,ENST00000473310,;PFKFB2,upstream_gene_variant,,ENST00000483688,;	1110	44	81	SUCCESS
MIR1256	100302155	.	GRCh37	1	21314838	21314838	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	41	152	0	ENST00000408881.1:n.88A>G		p.*30*	ENST00000408881				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55580.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATGCATT	NONE	.	.	.	.	.	ENSP00000473510	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000602326	Transcript	.	.	ENSG00000075151	3298	.	.	MODIFIER	5/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4G3_HUMAN	EIF4G3	HGNC	Q59GJ0_HUMAN,F5H564_HUMAN	.	UPI0001639589	SNV	EIF4G3,intron_variant,,ENST00000374935,;EIF4G3,intron_variant,,ENST00000411888,;EIF4G3,intron_variant,,ENST00000374927,;EIF4G3,intron_variant,,ENST00000356916,;EIF4G3,intron_variant,,ENST00000400422,;EIF4G3,intron_variant,,ENST00000374937,;EIF4G3,intron_variant,,ENST00000602326,;EIF4G3,intron_variant,,ENST00000438975,;EIF4G3,intron_variant,,ENST00000264211,;MIR1256,non_coding_transcript_exon_variant,,ENST00000408881,;	.	152	138	SUCCESS
USH2A	7399	.	GRCh37	1	216040372	216040372	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	19	111	0	ENST00000307340.3:c.8822T>C	p.Ile2941Thr	p.I2941T	ENST00000307340	NM_206933.2	2941	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31025.1	8822	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGATGGCT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	44/72	.	.	.	.	.	.	.	.	.	44/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.175)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Ile2941Thr,ENST00000366943,;USH2A,missense_variant,p.Ile2941Thr,ENST00000307340,;	9209	111	193	SUCCESS
USH2A	7399	.	GRCh37	1	216371756	216371756	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	12	99	0	ENST00000307340.3:c.3982G>A	p.Gly1328Ser	p.G1328S	ENST00000307340	NM_206933.2	1328	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31025.1	3982	MUTECT|MUSE|VARSCANS	.	CAAGCCAGTGA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	18/72	.	.	.	.	.	.	.	.	.	18/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.911)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Gly1328Ser,ENST00000366942,;USH2A,missense_variant,p.Gly1328Ser,ENST00000366943,;USH2A,missense_variant,p.Gly1328Ser,ENST00000307340,;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	4369	99	156	SUCCESS
EPRS	0	.	GRCh37	1	220174520	220174520	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374231493	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	56	107	0	ENST00000366923.3:c.2141G>T	p.Gly714Val	p.G714V	ENST00000366923	NM_004446.2	714	gGg/gTg	0	T:0.0007	.	.	.	.	A	G/V	protein_coding	YES	CCDS31027.1	2141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACCCTGAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119	.	T:0	ENSP00000355890	.	17/32	.	.	.	.	.	.	.	.	rs374231493	17/32	PASS	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.05)	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,missense_variant,p.Gly714Val,ENST00000366923,;EPRS,missense_variant,p.Gly721Val,ENST00000609181,;EPRS,non_coding_transcript_exon_variant,,ENST00000464052,;EPRS,downstream_gene_variant,,ENST00000477030,;	2411	107	217	SUCCESS
NUP133	55746	.	GRCh37	1	229596501	229596502	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	115	28	55	0	ENST00000261396.3:c.2700dup	p.Leu901SerfsTer33	p.L901Sfs*33	ENST00000261396	NM_018230.2	900	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1579.1	2700-2701	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGAGAAAGT	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	insertion	NUP133,frameshift_variant,p.Leu885SerfsTer33,ENST00000537506,;NUP133,frameshift_variant,p.Leu901SerfsTer33,ENST00000261396,;	2792-2793	55	143	SUCCESS
ACTN2	88	.	GRCh37	1	236850058	236850058	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750574123	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	10	75	0	ENST00000366578.4:c.85G>A	p.Asp29Asn	p.D29N	ENST00000366578	NM_001278344.1	29	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1613.1	85	MUTECT|MUSE	.	ACCGCGACCTG	NONE	.	.	Superfamily_domains:SSF47576,Gene3D:1.10.418.10	.	.	ENSP00000355537	.	1/21	.	.	.	.	.	.	.	.	rs750574123	1/21	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.262)	.	deleterious(0.01)	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,missense_variant,p.Asp29Asn,ENST00000542672,;ACTN2,missense_variant,p.Asp29Asn,ENST00000366578,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	251	75	127	SUCCESS
NLRP3	114548	.	GRCh37	1	247599337	247599337	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	44	122	0	ENST00000336119.3:c.2564A>G	p.His855Arg	p.H855R	ENST00000336119	NM_001127462.2	855	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS1632.1	2564	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCATTCCC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.34)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.His855Arg,ENST00000336119,;NLRP3,missense_variant,p.His798Arg,ENST00000391827,;NLRP3,missense_variant,p.His855Arg,ENST00000391828,;NLRP3,intron_variant,,ENST00000366496,;NLRP3,intron_variant,,ENST00000366497,;NLRP3,intron_variant,,ENST00000348069,;	3310	122	251	SUCCESS
OR1C1	26188	.	GRCh37	1	247921053	247921053	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	111	0	ENST00000408896.2:c.656G>T	p.Gly219Val	p.G219V	ENST00000408896	NM_012353.2	219	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41481.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTCCATAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF108,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000386138	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408896	Transcript	.	.	ENSG00000221888	8182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.63)	.	OR1C1_HUMAN	OR1C1	HGNC	.	.	UPI000004B1DC	SNV	OR1C1,missense_variant,p.Gly219Val,ENST00000408896,;	930	111	171	SUCCESS
MAN1C1	57134	.	GRCh37	1	25944335	25944335	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	62	0	ENST00000374332.4:c.47G>A	p.Gly16Glu	p.G16E	ENST00000374332	NM_020379.2	16	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS265.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGGCTGC	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF28	.	.	ENSP00000363452	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000374332	Transcript	.	.	ENSG00000117643	19080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.01)	.	MA1C1_HUMAN	MAN1C1	HGNC	B1AJZ5_HUMAN,A6NGN6_HUMAN	.	UPI000012EABD	SNV	MAN1C1,missense_variant,p.Gly16Glu,ENST00000374332,;MAN1C1,upstream_gene_variant,,ENST00000263979,;	377	62	48	SUCCESS
BTBD19	149478	.	GRCh37	1	45278683	45278683	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	41	133	1	ENST00000450269.1:c.430G>A	p.Gly144Ser	p.G144S	ENST00000450269	NM_001136537.1	144	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGGCCTG	NONE	.	.	SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR26379:SF54,hmmpanther:PTHR26379	.	.	ENSP00000395461	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000450269	Transcript	.	.	ENSG00000222009	27145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	tolerated(0.16)	.	BTBDJ_HUMAN	BTBD19	HGNC	.	.	UPI00001619D4	SNV	BTBD19,missense_variant,p.Gly144Ser,ENST00000450269,;BTBD19,missense_variant,p.Gly106Ser,ENST00000409335,;BTBD19,3_prime_UTR_variant,,ENST00000453418,;BTBD19,upstream_gene_variant,,ENST00000464114,;BTBD19,3_prime_UTR_variant,,ENST00000439563,;BTBD19,non_coding_transcript_exon_variant,,ENST00000485668,;BTBD19,non_coding_transcript_exon_variant,,ENST00000495433,;BTBD19,non_coding_transcript_exon_variant,,ENST00000482715,;BTBD19,non_coding_transcript_exon_variant,,ENST00000475105,;BTBD19,upstream_gene_variant,,ENST00000489976,;	769	134	169	SUCCESS
FGGY	55277	.	GRCh37	1	59844499	59844499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	56	0	ENST00000303721.7:c.544G>A	p.Val182Ile	p.V182I	ENST00000303721	NM_018291.3	182	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS44155.1	544	MUTECT|MUSE	.	CAGGTGTCACA	NONE	.	.	hmmpanther:PTHR10196:SF10,hmmpanther:PTHR10196,Pfam_domain:PF00370,Gene3D:3.30.420.40,TIGRFAM_domain:TIGR01315,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000360262	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000371218	Transcript	.	.	ENSG00000172456	25610	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.44)	.	FGGY_HUMAN	FGGY	HGNC	J3QKV9_HUMAN,C9J015_HUMAN	.	UPI0000458AF6	SNV	FGGY,missense_variant,p.Val182Ile,ENST00000303721,;FGGY,missense_variant,p.Val182Ile,ENST00000371218,;FGGY,missense_variant,p.Val94Ile,ENST00000371212,;FGGY,missense_variant,p.Val182Ile,ENST00000413489,;FGGY,non_coding_transcript_exon_variant,,ENST00000474476,;FGGY,missense_variant,p.Val182Ile,ENST00000430447,;FGGY,non_coding_transcript_exon_variant,,ENST00000495718,;	728	56	68	SUCCESS
CTNNBL1	56259	.	GRCh37	20	36322474	36322474	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	25	0	ENST00000361383.6:c.-51G>T		p.*17*	ENST00000361383	NM_030877.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13298.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCGGTC	NONE	.	.	.	.	.	ENSP00000355050	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000361383	Transcript	.	.	ENSG00000132792	15879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTBL1_HUMAN	CTNNBL1	HGNC	B4DE16_HUMAN,A2A2P1_HUMAN	.	UPI0000061E09	SNV	CTNNBL1,5_prime_UTR_variant,,ENST00000405275,;CTNNBL1,5_prime_UTR_variant,,ENST00000361383,;CTNNBL1,5_prime_UTR_variant,,ENST00000447935,;	67	25	21	SUCCESS
ATP9A	10079	.	GRCh37	20	50273555	50273555	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748710406	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	20	137	0	ENST00000338821.5:c.1428C>A	p.Asn476Lys	p.N476K	ENST00000338821	NM_006045.1	476	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS33489.1	1428	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGTTGGA	NONE	byFrequency	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00702,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000342481	.	14/28	.	.	.	.	.	.	.	.	rs748710406,COSM190656	14/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.027)	.	tolerated(0.13)	0,1	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Asn476Lys,ENST00000338821,;ATP9A,missense_variant,p.Asn355Lys,ENST00000402822,;ATP9A,missense_variant,p.Asn340Lys,ENST00000311637,;	1693	137	190	SUCCESS
CDH26	60437	.	GRCh37	20	58533734	58533734	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	55	104	0	ENST00000348616.4:c.-48G>A		p.*16*	ENST00000348616	NM_177980.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13485.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGGACTG	NONE	.	.	.	.	.	ENSP00000339390	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,5_prime_UTR_variant,,ENST00000244047,;CDH26,5_prime_UTR_variant,,ENST00000348616,;	253	104	133	SUCCESS
C20orf166-AS1	0	.	GRCh37	20	61143534	61143534	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs368429459	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	28	0	ENST00000412495.1:n.1112G>A		p.*371*	ENST00000412495				0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS46627.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCGTGTG	NONE	byFrequency|byCluster	4126	.	.	T:0.0001	ENSP00000359558	.	.	.	.	.	.	.	.	.	.	rs368429459	.	PASS	ENST00000370527	Transcript	.	.	ENSG00000174407	16159	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT166_HUMAN	C20orf166	HGNC	.	.	UPI000012861B	SNV	C20orf166,upstream_gene_variant,,ENST00000370524,;C20orf166,upstream_gene_variant,,ENST00000370527,;C20orf166-AS1,non_coding_transcript_exon_variant,,ENST00000412495,;C20orf166-AS1,non_coding_transcript_exon_variant,,ENST00000475015,;C20orf166-AS1,downstream_gene_variant,,ENST00000436101,;	.	28	45	SUCCESS
KRTAP6-3	337968	.	GRCh37	21	31964987	31964987	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	11	118	0	ENST00000391624.1:c.202G>C	p.Gly68Arg	p.G68R	ENST00000391624	NM_181605.3	68	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	.	202	MUTECT|MUSE	.	ACAGAGGCCTG	BUFFER|p.D70H|c.208G>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF4,hmmpanther:PTHR31678	.	.	ENSP00000375482	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391624	Transcript	.	.	ENSG00000212938	18933	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	KRA63_HUMAN	KRTAP6-3	HGNC	.	.	UPI00001A9E56	SNV	KRTAP6-3,missense_variant,p.Gly68Arg,ENST00000391624,;KRTAP22-2,upstream_gene_variant,,ENST00000382830,;AP001069.1,intron_variant,,ENST00000537053,;	229	118	150	SUCCESS
KRTAP6-3	337968	.	GRCh37	21	31964988	31964988	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	11	117	0	ENST00000391624.1:c.203G>C	p.Gly68Ala	p.G68A	ENST00000391624	NM_181605.3	68	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	.	203	MUTECT|MUSE	.	CAGAGGCCTGG	BUFFER|p.D70H|c.208G>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF4,hmmpanther:PTHR31678	.	.	ENSP00000375482	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391624	Transcript	.	.	ENSG00000212938	18933	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	KRA63_HUMAN	KRTAP6-3	HGNC	.	.	UPI00001A9E56	SNV	KRTAP6-3,missense_variant,p.Gly68Ala,ENST00000391624,;KRTAP22-2,upstream_gene_variant,,ENST00000382830,;AP001069.1,intron_variant,,ENST00000537053,;	230	117	146	SUCCESS
SON	6651	.	GRCh37	21	34925635	34925635	+	synonymous_variant	Silent	SNP	C	C	T	rs550454473	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	84	1	ENST00000356577.4:c.4098C>T	p.Thr1366=	p.T1366=	ENST00000356577	NM_138927.2	1366	acC/acT	0	.	T:0.0008	.	T:0.0029	.	T	T	protein_coding	YES	CCDS13629.1	4098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACCGTCCT	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813	T:0	.	ENSP00000348984	T:0.003	3/12	.	.	.	.	.	.	.	.	rs550454473	3/12	PASS	ENST00000356577	Transcript	.	T:0.0012	ENSG00000159140	11183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SON_HUMAN	SON	HGNC	.	.	UPI0000140BFD	SNV	SON,synonymous_variant,p.%3D,ENST00000381679,;SON,synonymous_variant,p.%3D,ENST00000300278,;SON,synonymous_variant,p.%3D,ENST00000356577,;SON,synonymous_variant,p.%3D,ENST00000436227,;SON,synonymous_variant,p.%3D,ENST00000290239,;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000421541,;SON,synonymous_variant,p.%3D,ENST00000455528,;	4573	85	104	SUCCESS
ICOSLG	23308	.	GRCh37	21	45656879	45656879	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370218763	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	47	156	0	ENST00000407780.3:c.277C>T	p.Arg93Trp	p.R93W	ENST00000407780	NM_001283052.1	93	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS42952.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCAGCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF55,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	A:0.0001	ENSP00000384432	.	3/7	.	.	.	.	.	.	.	.	rs370218763	3/7	PASS	ENST00000407780	Transcript	.	.	ENSG00000160223	17087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ICOSL_HUMAN	ICOSLG	HGNC	B7Z1W8_HUMAN,A0N0L8_HUMAN	.	UPI0000049DCB	SNV	ICOSLG,missense_variant,p.Arg93Trp,ENST00000407780,;ICOSLG,missense_variant,p.Arg93Trp,ENST00000344330,;ICOSLG,missense_variant,p.Arg93Trp,ENST00000400379,;ICOSLG,intron_variant,,ENST00000400377,;	405	156	147	SUCCESS
PI4KAP1	728233	.	GRCh37	22	20385730	20385730	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	862	23	818	0	ENST00000437178.2:n.2166T>G		p.*722*	ENST00000437178				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	CTTCAAGAACT	NONE	.	.	.	.	.	.	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000437178	Transcript	.	.	ENSG00000215513	33576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PI4KAP1	HGNC	.	.	.	SNV	PI4KAP1,non_coding_transcript_exon_variant,,ENST00000430523,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000452435,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000452110,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000455715,;PI4KAP1,downstream_gene_variant,,ENST00000438765,;PI4KAP1,downstream_gene_variant,,ENST00000416922,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000400467,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000437178,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000544467,;	2166	818	885	SUCCESS
SEZ6L	23544	.	GRCh37	22	26706735	26706735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	55	167	0	ENST00000248933.6:c.1614C>A	p.Asn538Lys	p.N538K	ENST00000248933		538	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS13833.1	1614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAACACCAT	BUFFER|p.R541C|c.1621C>T|3	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS01180	.	.	ENSP00000248933	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.27)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Asn538Lys,ENST00000529632,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000248933,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000360929,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000343706,;SEZ6L,missense_variant,p.Asn311Lys,ENST00000402979,;SEZ6L,missense_variant,p.Asn311Lys,ENST00000403121,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000404234,;	1709	167	177	SUCCESS
NEFH	4744	.	GRCh37	22	29885446	29885446	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	54	143	0	ENST00000310624.6:c.1817C>A	p.Ser606Tyr	p.S606Y	ENST00000310624	NM_021076.3	606	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS13858.1	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214,Pfam_domain:PF07142	.	.	ENSP00000311997	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310624	Transcript	.	.	ENSG00000100285	7737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	NFH_HUMAN	NEFH	HGNC	.	.	UPI00001AEF71	SNV	NEFH,missense_variant,p.Ser606Tyr,ENST00000310624,;	1850	143	187	SUCCESS
RAC2	5880	.	GRCh37	22	37627372	37627372	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs978951259	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	6	133	0	ENST00000249071.6:c.347A>G	p.Lys116Arg	p.K116R	ENST00000249071	NM_002872.4	116	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13945.1	347	MUTECT|MUSE	.	CCAGCTTGGTG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24072:SF104,hmmpanther:PTHR24072,PROSITE_profiles:PS51420	.	.	ENSP00000249071	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000249071	Transcript	.	.	ENSG00000128340	9802	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0)	.	RAC2_HUMAN	RAC2	HGNC	B1AH78_HUMAN,B1AH77_HUMAN	.	UPI00001110AB	SNV	RAC2,missense_variant,p.Lys109Arg,ENST00000405484,;RAC2,missense_variant,p.Lys116Arg,ENST00000249071,;RAC2,missense_variant,p.Lys116Arg,ENST00000441619,;RAC2,missense_variant,p.Lys72Arg,ENST00000406508,;RAC2,non_coding_transcript_exon_variant,,ENST00000481215,;RAC2,downstream_gene_variant,,ENST00000469532,;	469	133	153	SUCCESS
GRAMD4	23151	.	GRCh37	22	47073042	47073042	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	66	0	ENST00000361034.3:c.1633-2A>T		p.X545_splice	ENST00000361034	NM_015124.3	545		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33672.1	.	MUTECT|MUSE	.	CTGCCAGCCGC	NONE	.	.	.	.	.	ENSP00000385689	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406902	Transcript	.	.	ENSG00000075240	29113	.	.	HIGH	18/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRAM4_HUMAN	GRAMD4	HGNC	.	.	UPI0000161A59	SNV	GRAMD4,splice_acceptor_variant,,ENST00000408031,;GRAMD4,splice_acceptor_variant,,ENST00000406902,;GRAMD4,splice_acceptor_variant,,ENST00000361034,;	.	66	81	SUCCESS
IL1RL2	8808	.	GRCh37	2	102836404	102836404	+	synonymous_variant	Silent	SNP	A	A	G	rs1388584938	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	57	82	0	ENST00000264257.2:c.918A>G	p.Lys306=	p.K306=	ENST00000264257	NM_003854.2	306	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS2056.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAAATGGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,hmmpanther:PTHR11890:SF9,hmmpanther:PTHR11890	.	.	ENSP00000264257	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000264257	Transcript	.	.	ENSG00000115598	5999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ILRL2_HUMAN	IL1RL2	HGNC	C9K0I8_HUMAN	.	UPI000013D4ED	SNV	IL1RL2,synonymous_variant,p.%3D,ENST00000264257,;IL1RL2,synonymous_variant,p.%3D,ENST00000539491,;IL1RL2,synonymous_variant,p.%3D,ENST00000441515,;IL1RL2,non_coding_transcript_exon_variant,,ENST00000481806,;	1044	82	139	SUCCESS
THSD7B	80731	.	GRCh37	2	137990568	137990568	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756885295	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	80	204	1	ENST00000272643.3:c.2015C>T	p.Pro672Leu	p.P672L	ENST00000272643		672	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	2015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCTTGTT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000272643	.	8/28	.	.	.	.	.	.	.	.	rs756885295,COSM222707,COSM3566959	8/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.607)	.	tolerated(0.17)	0,1,1	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Pro672Leu,ENST00000409968,;THSD7B,missense_variant,p.Pro641Leu,ENST00000413152,;THSD7B,missense_variant,p.Pro672Leu,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;	2015	205	314	SUCCESS
ACVR2A	92	.	GRCh37	2	148657133	148657133	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	16	0	ENST00000241416.7:c.370C>T	p.Gln124Ter	p.Q124*	ENST00000241416	NM_001616.4	124	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS33301.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACAGCGT	BUFFER|p.P125S|c.373C>T|4	.	.	hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64	.	.	ENSP00000241416	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,stop_gained,p.Gln124Ter,ENST00000241416,;ACVR2A,stop_gained,p.Gln124Ter,ENST00000404590,;ACVR2A,stop_gained,p.Gln16Ter,ENST00000535787,;AC009480.3,non_coding_transcript_exon_variant,,ENST00000402410,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000462659,;ACVR2A,downstream_gene_variant,,ENST00000487959,;ACVR2A,downstream_gene_variant,,ENST00000465329,;	1006	16	47	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098968	178098968	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	32	0	ENST00000397062.3:c.77A>C	p.Gln26Pro	p.Q26P	ENST00000397062	NM_006164.4	26	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS42782.1	77	MUTECT|MUSE	.	TATCTTGCCTC	BUFFER|p.L30F|c.88C>T|6,BUFFER|p.D29G|c.86A>G|11,BUFFER|p.D29H|c.85G>C|12,BUFFER|p.D29N|c.85G>A|3,BUFFER|p.D29Y|c.85G>T|4,BUFFER|p.D27G|c.80A>G|3,BUFFER|p.W24C|c.72G>C|5	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM717622,COSM717621	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Gln10Pro,ENST00000449627,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000423513,;NFE2L2,missense_variant,p.Gln26Pro,ENST00000397062,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000446151,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000588123,;NFE2L2,missense_variant,p.Gln25Pro,ENST00000586532,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000421929,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000464747,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000448782,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	632	32	59	SUCCESS
COL5A2	1290	.	GRCh37	2	189927932	189927932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	17	0	ENST00000374866.3:c.1835G>A	p.Gly612Glu	p.G612E	ENST00000374866	NM_000393.3	612	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33350.1	1835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCCGGGC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,Low_complexity_(Seg):seg	.	.	ENSP00000364000	.	27/54	.	.	.	.	.	.	.	.	.	27/54	PASS	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,missense_variant,p.Gly612Glu,ENST00000374866,;COL5A2,upstream_gene_variant,,ENST00000470524,;	2110	18	37	SUCCESS
HIBCH	26275	.	GRCh37	2	191159323	191159323	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1430906931	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	47	0	ENST00000359678.5:c.253A>G	p.Ile85Val	p.I85V	ENST00000359678	NM_198047.2	85	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2304.1	253	RADIA|MUTECT|MUSE|VARSCANS	.	TATAATGATCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000352706	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000359678	Transcript	.	.	ENSG00000198130	4908	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	tolerated(0.08)	.	HIBCH_HUMAN	HIBCH	HGNC	B9A058_HUMAN	.	UPI000013F16E	SNV	HIBCH,missense_variant,p.Ile85Val,ENST00000359678,;HIBCH,missense_variant,p.Ile85Val,ENST00000392332,;HIBCH,missense_variant,p.Ile139Val,ENST00000409934,;HIBCH,upstream_gene_variant,,ENST00000392333,;	548	47	73	SUCCESS
PECR	55825	.	GRCh37	2	216946374	216946397	+	inframe_deletion	In_Frame_Del	DEL	CGATGCCCGTGGCCCCGCCGGTGA	CGATGCCCGTGGCCCCGCCGGTGA	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	CGATGCCCGTGGCCCCGCCGGTGA	CGATGCCCGTGGCCCCGCCGGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	97	56	85	0	ENST00000265322.7:c.68_91del	p.Val23_Ile30del	p.V23_I30del	ENST00000265322	NM_018441.5	23	gTCACCGGCGGGGCCACGGGCATCGga/gga	0	.	.	.	.	.	-	VTGGATGIG/G	protein_coding	YES	CCDS33375.1	68-91	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTCCGATGCCCGTGGCCCCGCCGGTGACGATG	NONE	.	.	hmmpanther:PTHR24317,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000265322	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000265322	Transcript	.	.	ENSG00000115425	18281	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PECR_HUMAN	PECR	HGNC	.	.	UPI000004C794	deletion	PECR,inframe_deletion,p.Val23_Ile30del,ENST00000265322,;TMEM169,upstream_gene_variant,,ENST00000406027,;TMEM169,upstream_gene_variant,,ENST00000295658,;TMEM169,upstream_gene_variant,,ENST00000433112,;TMEM169,upstream_gene_variant,,ENST00000454545,;TMEM169,upstream_gene_variant,,ENST00000455479,;TMEM169,upstream_gene_variant,,ENST00000437356,;PECR,non_coding_transcript_exon_variant,,ENST00000487318,;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,intron_variant,,ENST00000464722,;PECR,inframe_deletion,p.Val23_Ile30del,ENST00000442122,;PECR,non_coding_transcript_exon_variant,,ENST00000474093,;	143-166	85	153	SUCCESS
OBSL1	23363	.	GRCh37	2	220432567	220432567	+	synonymous_variant	Silent	SNP	C	C	A	rs761576373	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	97	234	1	ENST00000404537.1:c.1407G>T	p.Pro469=	p.P469=	ENST00000404537	NM_015311.2	469	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46520.1	1407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACCGGCAG	NONE	.	.	hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385636	.	3/21	.	.	.	.	.	.	.	.	rs761576373,COSM1326394	3/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,synonymous_variant,p.%3D,ENST00000603926,;OBSL1,synonymous_variant,p.%3D,ENST00000289656,;OBSL1,synonymous_variant,p.%3D,ENST00000373876,;OBSL1,synonymous_variant,p.%3D,ENST00000265318,;OBSL1,synonymous_variant,p.%3D,ENST00000404537,;OBSL1,synonymous_variant,p.%3D,ENST00000373873,;INHA,upstream_gene_variant,,ENST00000243786,;INHA,upstream_gene_variant,,ENST00000489456,;OBSL1,downstream_gene_variant,,ENST00000465589,;OBSL1,downstream_gene_variant,,ENST00000491370,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000462385,;	1464	235	249	SUCCESS
TRIP12	9320	.	GRCh37	2	230632438	230632438	+	synonymous_variant	Silent	SNP	T	T	A	rs750607517	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	34	0	ENST00000283943.5:c.5811A>T	p.Thr1937=	p.T1937=	ENST00000283943	NM_004238.1	1937	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33391.1	5811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATTGTCAA	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50237	.	.	ENSP00000283943	.	41/41	.	.	.	.	.	.	.	.	rs750607517	41/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000418123,;	5990	34	67	SUCCESS
ATG4B	23192	.	GRCh37	2	242592932	242592932	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	35	179	0	ENST00000404914.3:c.190A>G	p.Thr64Ala	p.T64A	ENST00000404914	NM_013325.4	64	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46564.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGACAGGC	NONE	.	.	hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF39,Pfam_domain:PF03416,Superfamily_domains:SSF54001	.	.	ENSP00000384259	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000404914	Transcript	.	.	ENSG00000168397	20790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	ATG4B_HUMAN	ATG4B	HGNC	F8WD71_HUMAN,C9JVD5_HUMAN,C9J3C0_HUMAN,C9J1C1_HUMAN	.	UPI00001AF16F	SNV	ATG4B,missense_variant,p.Thr50Ala,ENST00000474739,;ATG4B,missense_variant,p.Thr64Ala,ENST00000404914,;ATG4B,missense_variant,p.Thr64Ala,ENST00000425239,;ATG4B,missense_variant,p.Thr64Ala,ENST00000400771,;ATG4B,missense_variant,p.Thr64Ala,ENST00000405546,;ATG4B,5_prime_UTR_variant,,ENST00000419606,;ATG4B,5_prime_UTR_variant,,ENST00000396411,;ATG4B,5_prime_UTR_variant,,ENST00000402096,;ATG4B,5_prime_UTR_variant,,ENST00000429899,;ATG4B,5_prime_UTR_variant,,ENST00000430617,;ATG4B,downstream_gene_variant,,ENST00000491867,;ATG4B,3_prime_UTR_variant,,ENST00000415107,;ATG4B,3_prime_UTR_variant,,ENST00000344376,;ATG4B,3_prime_UTR_variant,,ENST00000400772,;ATG4B,non_coding_transcript_exon_variant,,ENST00000475195,;ATG4B,non_coding_transcript_exon_variant,,ENST00000479554,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;	293	180	177	SUCCESS
LTBP1	4052	.	GRCh37	2	33246001	33246001	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	76	0	ENST00000404816.2:c.591T>C	p.Asn197=	p.N197=	ENST00000404816		197	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS33177.2	591	MUTECT|MUSE	.	CAGAATGGAGG	NONE	.	.	PROSITE_profiles:PS50026,SMART_domains:SM00181	.	.	ENSP00000386043	.	3/34	.	.	.	.	.	.	.	.	.	3/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,synonymous_variant,p.%3D,ENST00000404816,;LTBP1,synonymous_variant,p.%3D,ENST00000354476,;	944	76	116	SUCCESS
SOS1	6654	.	GRCh37	2	39249927	39249927	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs397517149	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	61	0	ENST00000402219.2:c.1642A>G	p.Ser548Gly	p.S548G	ENST00000402219	NM_005633.3	548	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS1802.1	1642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TGTACTCCGGT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113	.	.	ENSP00000387784	.	11/24	.	.	.	.	.	.	.	.	rs397517149,CM070280	11/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.074)	.	deleterious(0.02)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Ser548Gly,ENST00000395038,;SOS1,missense_variant,p.Ser548Gly,ENST00000426016,;SOS1,missense_variant,p.Ser548Gly,ENST00000402219,;SOS1,downstream_gene_variant,,ENST00000428721,;SOS1,downstream_gene_variant,,ENST00000472480,;SOS1,downstream_gene_variant,,ENST00000461545,;	1729	61	108	SUCCESS
NRXN1	9378	.	GRCh37	2	50464017	50464017	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	59	171	1	ENST00000406316.2:c.3456G>T	p.Leu1152=	p.L1152=	ENST00000406316	NM_004801.4	1152	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46282.1	3576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCAGTCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	19/24	.	.	.	.	.	.	.	.	COSM354301,COSM354303,COSM354302	19/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000401710,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000342183,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;	4916	172	227	SUCCESS
B3GNT2	10678	.	GRCh37	2	62449528	62449528	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	88	0	ENST00000301998.4:c.173A>T	p.Tyr58Phe	p.Y58F	ENST00000301998	NM_006577.5	58	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS1870.1	173	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATACTGGA	NONE	.	.	hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF25	.	.	ENSP00000305595	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000301998	Transcript	.	.	ENSG00000170340	15629	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.53)	.	B3GN2_HUMAN	B3GNT2	HGNC	.	.	UPI00000009FB	SNV	B3GNT2,missense_variant,p.Tyr58Phe,ENST00000405767,;B3GNT2,missense_variant,p.Tyr58Phe,ENST00000301998,;	425	88	104	SUCCESS
AUP1	550	.	GRCh37	2	74754135	74754135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	45	0	ENST00000377526.3:c.1129A>G	p.Lys377Glu	p.K377E	ENST00000377526	NM_181575.3	377	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS42702.1	1129	MUTECT|MUSE	.	AGACTTGGCAA	NONE	.	.	hmmpanther:PTHR15486	.	.	ENSP00000366748	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000377526	Transcript	.	.	ENSG00000115307	891	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0.01)	.	AUP1_HUMAN	AUP1	HGNC	.	.	UPI000000163A	SNV	AUP1,missense_variant,p.Lys377Glu,ENST00000377526,;HTRA2,upstream_gene_variant,,ENST00000352222,;HTRA2,upstream_gene_variant,,ENST00000258080,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;HTRA2,upstream_gene_variant,,ENST00000437202,;DQX1,upstream_gene_variant,,ENST00000451518,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;HTRA2,upstream_gene_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000495597,;AUP1,3_prime_UTR_variant,,ENST00000425118,;AUP1,non_coding_transcript_exon_variant,,ENST00000463900,;AUP1,non_coding_transcript_exon_variant,,ENST00000486234,;AUP1,non_coding_transcript_exon_variant,,ENST00000466894,;HTRA2,upstream_gene_variant,,ENST00000484352,;HTRA2,upstream_gene_variant,,ENST00000465521,;DQX1,upstream_gene_variant,,ENST00000483555,;DQX1,upstream_gene_variant,,ENST00000473508,;AUP1,downstream_gene_variant,,ENST00000462297,;HTRA2,upstream_gene_variant,,ENST00000482205,;DQX1,upstream_gene_variant,,ENST00000418139,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,downstream_gene_variant,,ENST00000464887,;AUP1,downstream_gene_variant,,ENST00000472800,;	1439	45	94	SUCCESS
PROM2	150696	.	GRCh37	2	95954033	95954033	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	69	0	ENST00000317620.9:c.2319G>A	p.Met773Ile	p.M773I	ENST00000317620	NM_001165978.1	773	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2012.1	2319	MUTECT|MUSE	.	GACATGATGGC	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	.	.	ENSP00000318270	.	21/24	.	.	.	.	.	.	.	.	COSM3584001	21/24	PASS	ENST00000317620	Transcript	.	.	ENSG00000155066	20685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.412)	.	tolerated(0.36)	1	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,missense_variant,p.Met773Ile,ENST00000317620,;PROM2,missense_variant,p.Met724Ile,ENST00000542147,;PROM2,missense_variant,p.Met773Ile,ENST00000403131,;PROM2,missense_variant,p.Met773Ile,ENST00000317668,;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,downstream_gene_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	2452	69	73	SUCCESS
KIAA1407	0	.	GRCh37	3	113753775	113753775	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	70	1	ENST00000295878.3:c.815A>C	p.Lys272Thr	p.K272T	ENST00000295878	NM_020817.1	272	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS2977.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTTCCAT	NONE	.	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.875)	.	deleterious(0.01)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Lys259Thr,ENST00000491000,;KIAA1407,missense_variant,p.Lys103Thr,ENST00000545063,;KIAA1407,missense_variant,p.Lys272Thr,ENST00000295878,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,downstream_gene_variant,,ENST00000483766,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;KIAA1407,downstream_gene_variant,,ENST00000463695,;	962	71	98	SUCCESS
PARP14	54625	.	GRCh37	3	122418685	122418685	+	synonymous_variant	Silent	SNP	A	A	T	rs766825947	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	81	0	ENST00000474629.2:c.1284A>T	p.Thr428=	p.T428=	ENST00000474629	NM_017554.2	428	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46894.1	1284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACACTTAA	NONE	byFrequency	.	hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453	.	.	ENSP00000418194	.	6/17	.	.	.	.	.	.	.	.	rs766825947	6/17	PASS	ENST00000474629	Transcript	.	.	ENSG00000173193	29232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR14_HUMAN	PARP14	HGNC	.	.	UPI00015A20AB	SNV	PARP14,synonymous_variant,p.%3D,ENST00000474629,;PARP14,downstream_gene_variant,,ENST00000494811,;PARP14,synonymous_variant,p.%3D,ENST00000460683,;PARP14,upstream_gene_variant,,ENST00000474669,;	1550	81	127	SUCCESS
ITGB5	3693	.	GRCh37	3	124592297	124592297	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	7	126	0	ENST00000296181.4:c.152A>G	p.Lys51Arg	p.K51R	ENST00000296181	NM_002213.3	51	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3030.1	152	MUTECT|MUSE	.	CCTCTTTGGAG	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000296181	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.08)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Lys51Arg,ENST00000296181,;ITGB5,5_prime_UTR_variant,,ENST00000608657,;ITGB5,5_prime_UTR_variant,,ENST00000608107,;ITGB5,5_prime_UTR_variant,,ENST00000483168,;ITGB5,5_prime_UTR_variant,,ENST00000465464,;	449	126	146	SUCCESS
KLF15	28999	.	GRCh37	3	126062722	126062722	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	51	0	ENST00000296233.3:c.1099G>A	p.Glu367Lys	p.E367K	ENST00000296233	NM_014079.3	367	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS3036.1	1099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCGTCAG	BUFFER|p.S369L|c.1106C>T|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23223:SF146,hmmpanther:PTHR23223,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000296233	.	3/3	.	.	.	.	.	.	.	.	COSM445501	3/3	PASS	ENST00000296233	Transcript	.	.	ENSG00000163884	14536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	KLF15_HUMAN	KLF15	HGNC	.	.	UPI0000001659	SNV	KLF15,missense_variant,p.Glu367Lys,ENST00000296233,;	1330	51	67	SUCCESS
ATP13A5	344905	.	GRCh37	3	193029676	193029676	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760725199	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	25	85	0	ENST00000342358.4:c.2374T>C	p.Cys792Arg	p.C792R	ENST00000342358	NM_198505.2	792	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS33914.1	2374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACAGCTTC	NONE	byFrequency	.	Pfam_domain:PF12710,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093	.	.	ENSP00000341942	.	20/30	.	.	.	.	.	.	.	.	rs760725199,COSM729943	20/30	PASS	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.102)	.	tolerated(0.55)	0,1	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,missense_variant,p.Cys792Arg,ENST00000342358,;ATP13A5-AS1,intron_variant,,ENST00000414634,;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;ATP13A5,downstream_gene_variant,,ENST00000488957,;	2492	85	159	SUCCESS
NRROS	375387	.	GRCh37	3	196387008	196387008	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1314586426	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	43	62	0	ENST00000328557.4:c.494C>T	p.Ala165Val	p.A165V	ENST00000328557	NM_198565.1	165	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3319.1	494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGGGGA	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF245,PROSITE_profiles:PS51450	.	.	ENSP00000328625	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328557	Transcript	.	.	ENSG00000174004	24613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	deleterious(0.02)	.	NRROS_HUMAN	NRROS	HGNC	.	.	UPI000000DA7E	SNV	NRROS,missense_variant,p.Ala165Val,ENST00000328557,;PIGX,intron_variant,,ENST00000426755,;	697	62	79	SUCCESS
LRCH3	84859	.	GRCh37	3	197592322	197592322	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	7	117	1	ENST00000425562.2:c.1745G>T	p.Ser582Ile	p.S582I	ENST00000425562		582	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS3330.1	1745	MUTECT|MUSE	.	ATTAAGTTCAC	NONE	.	.	.	.	.	ENSP00000334375	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000334859	Transcript	.	.	ENSG00000186001	28637	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.056)	.	deleterious(0.01)	.	LRCH3_HUMAN	LRCH3	HGNC	.	.	UPI000006E903	SNV	LRCH3,missense_variant,p.Ser582Ile,ENST00000334859,;LRCH3,missense_variant,p.Ser93Ile,ENST00000452660,;LRCH3,missense_variant,p.Ser582Ile,ENST00000438796,;LRCH3,missense_variant,p.Ser55Ile,ENST00000433298,;LRCH3,missense_variant,p.Ser428Ile,ENST00000441090,;LRCH3,missense_variant,p.Ser582Ile,ENST00000425562,;LRCH3,missense_variant,p.Ser530Ile,ENST00000414675,;LRCH3,missense_variant,p.Ser177Ile,ENST00000536618,;LRCH3,upstream_gene_variant,,ENST00000428136,;LRCH3,non_coding_transcript_exon_variant,,ENST00000481048,;LRCH3,non_coding_transcript_exon_variant,,ENST00000471667,;LRCH3,non_coding_transcript_exon_variant,,ENST00000461674,;LRCH3,non_coding_transcript_exon_variant,,ENST00000483442,;LRCH3,intron_variant,,ENST00000473177,;	1750	118	182	SUCCESS
DLEC1	9940	.	GRCh37	3	38138132	38138132	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	81	0	ENST00000308059.6:c.2244A>T	p.Lys748Asn	p.K748N	ENST00000308059		748	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2672.2	2244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAAGGCTC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	15/37	.	.	.	.	.	.	.	.	.	15/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Lys748Asn,ENST00000308059,;DLEC1,missense_variant,p.Lys748Asn,ENST00000346219,;DLEC1,missense_variant,p.Lys748Asn,ENST00000452631,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;DLEC1,downstream_gene_variant,,ENST00000447130,;	2265	81	123	SUCCESS
SCN5A	6331	.	GRCh37	3	38622799	38622799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	251	26	191	0	ENST00000333535.4:c.2851G>A	p.Asp951Asn	p.D951N	ENST00000333535		951	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS46799.1	2851	RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCAGGGG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178	.	.	ENSP00000410257	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.566)	.	deleterious(0.02)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Asp951Asn,ENST00000449557,;SCN5A,missense_variant,p.Asp951Asn,ENST00000413689,;SCN5A,missense_variant,p.Asp951Asn,ENST00000423572,;SCN5A,missense_variant,p.Asp951Asn,ENST00000425664,;SCN5A,missense_variant,p.Asp951Asn,ENST00000414099,;SCN5A,missense_variant,p.Asp951Asn,ENST00000451551,;SCN5A,missense_variant,p.Asp951Asn,ENST00000450102,;SCN5A,missense_variant,p.Asp951Asn,ENST00000333535,;SCN5A,missense_variant,p.Asp951Asn,ENST00000455624,;SCN5A,missense_variant,p.Asp951Asn,ENST00000443581,;	3045	191	277	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	77	168	0	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS2694.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCATTCTG	SITE|p.H36P|c.107A>C|34,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.H36Y|c.106C>T|5,CODON|p.H36R|c.107A>G|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5678,COSM27378	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.397)	.	deleterious(0.04)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	387	168	261	SUCCESS
CHL1	10752	.	GRCh37	3	433400	433400	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	33	1	ENST00000397491.2:c.2786A>C	p.Lys929Thr	p.K929T	ENST00000397491		929	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS2556.1	2834	SOMATICSNIPER|VARSCANS	.	TGATAAAGACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000256509	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.885)	.	tolerated(0.06)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Lys929Thr,ENST00000397491,;CHL1,missense_variant,p.Lys132Thr,ENST00000445697,;CHL1,missense_variant,p.Lys945Thr,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000470880,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	3476	34	58	SUCCESS
DHX30	22907	.	GRCh37	3	47888778	47888778	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753357583	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	243	17	218	0	ENST00000445061.1:c.1945G>A	p.Ala649Thr	p.A649T	ENST00000445061	NM_138615.2	649	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2759.1	1945	MUTECT|MUSE	.	AATGCGCACTC	BUFFER|p.D651N|c.1951G>A|3	byFrequency	.	Superfamily_domains:SSF52540,hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934	.	.	ENSP00000405620	.	12/22	.	.	.	.	.	.	.	.	rs753357583,COSM1692724	12/22	PASS	ENST00000445061	Transcript	.	.	ENSG00000132153	16716	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.003)	.	tolerated(0.48)	0,1	DHX30_HUMAN	DHX30	HGNC	H7BXY3_HUMAN	.	UPI000007112B	SNV	DHX30,missense_variant,p.Ala621Thr,ENST00000348968,;DHX30,missense_variant,p.Ala677Thr,ENST00000457607,;DHX30,missense_variant,p.Ala610Thr,ENST00000446256,;DHX30,missense_variant,p.Ala649Thr,ENST00000445061,;MAP4,downstream_gene_variant,,ENST00000426837,;MAP4,downstream_gene_variant,,ENST00000360240,;MAP4,downstream_gene_variant,,ENST00000264724,;MAP4,downstream_gene_variant,,ENST00000420772,;MAP4,downstream_gene_variant,,ENST00000429422,;MAP4,downstream_gene_variant,,ENST00000395734,;MAP4,downstream_gene_variant,,ENST00000383737,;MIR1226,upstream_gene_variant,,ENST00000408658,;DHX30,downstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,downstream_gene_variant,,ENST00000441384,;DHX30,upstream_gene_variant,,ENST00000474183,;	2352	218	260	SUCCESS
ITIH1	3697	.	GRCh37	3	52824922	52824922	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1578744591	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	42	140	0	ENST00000273283.2:c.2479A>G	p.Thr827Ala	p.T827A	ENST00000273283	NM_002215.3	827	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2864.1	2479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGACGCAC	NONE	.	.	Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106	.	.	ENSP00000273283	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000273283	Transcript	.	.	ENSG00000055957	6166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	ITIH1_HUMAN	ITIH1	HGNC	.	.	UPI000012DA1C	SNV	ITIH1,missense_variant,p.Thr539Ala,ENST00000537050,;ITIH1,missense_variant,p.Thr827Ala,ENST00000273283,;ITIH1,missense_variant,p.Thr380Ala,ENST00000428133,;ITIH1,missense_variant,p.Thr193Ala,ENST00000405128,;ITIH1,missense_variant,p.Thr685Ala,ENST00000540715,;ITIH1,3_prime_UTR_variant,,ENST00000542827,;ITIH3,upstream_gene_variant,,ENST00000416872,;ITIH3,upstream_gene_variant,,ENST00000449956,;ITIH1,non_coding_transcript_exon_variant,,ENST00000494705,;ITIH3,upstream_gene_variant,,ENST00000467268,;ITIH1,downstream_gene_variant,,ENST00000482836,;ITIH1,downstream_gene_variant,,ENST00000484844,;	2503	140	142	SUCCESS
SYNPR	132204	.	GRCh37	3	63594864	63594864	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1002535187	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	59	157	0	ENST00000295894.5:c.412G>A	p.Gly138Arg	p.G138R	ENST00000295894	NM_144642.4	138	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46859.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGGACTG	NONE	.	.	PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF16,Pfam_domain:PF01284	.	.	ENSP00000418994	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000478300	Transcript	.	.	ENSG00000163630	16507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	SYNPR_HUMAN	SYNPR	HGNC	B7Z9J3_HUMAN	.	UPI00005796D8	SNV	SYNPR,missense_variant,p.Gly149Arg,ENST00000460711,;SYNPR,missense_variant,p.Gly138Arg,ENST00000295894,;SYNPR,missense_variant,p.Gly138Arg,ENST00000479198,;SYNPR,missense_variant,p.Gly158Arg,ENST00000478300,;SYNPR,intron_variant,,ENST00000465156,;SYNPR,non_coding_transcript_exon_variant,,ENST00000493532,;SYNPR,non_coding_transcript_exon_variant,,ENST00000478744,;SYNPR,3_prime_UTR_variant,,ENST00000450542,;SYNPR,3_prime_UTR_variant,,ENST00000468110,;SYNPR,3_prime_UTR_variant,,ENST00000498449,;	883	158	198	SUCCESS
QRFPR	84109	.	GRCh37	4	122301704	122301704	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	77	0	ENST00000394427.2:c.99G>C	p.Pro33=	p.P33=	ENST00000394427	NM_198179.2	33	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3719.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGCGGTCG	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65	.	.	ENSP00000377948	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,synonymous_variant,p.%3D,ENST00000394427,;QRFPR,synonymous_variant,p.%3D,ENST00000334383,;QRFPR,synonymous_variant,p.%3D,ENST00000507331,;QRFPR,non_coding_transcript_exon_variant,,ENST00000512235,;	511	77	71	SUCCESS
BBS7	55212	.	GRCh37	4	122747089	122747089	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	17	0	ENST00000264499.4:c.2074A>G	p.Lys692Glu	p.K692E	ENST00000264499	NM_176824.2	692	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3724.1	2074	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTTAGTTT	NONE	.	.	hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091	.	.	ENSP00000264499	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000264499	Transcript	1	.	ENSG00000138686	18758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.234)	.	deleterious(0.01)	.	BBS7_HUMAN	BBS7	HGNC	H0Y973_HUMAN	.	UPI00001684D7	SNV	BBS7,missense_variant,p.Lys692Glu,ENST00000264499,;BBS7,missense_variant,p.Lys115Glu,ENST00000507814,;BBS7,downstream_gene_variant,,ENST00000506636,;CCNA2,upstream_gene_variant,,ENST00000274026,;	2258	17	33	SUCCESS
DCLK2	166614	.	GRCh37	4	151168791	151168791	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	60	1	ENST00000296550.7:c.1815C>A	p.Ile605=	p.I605=	ENST00000296550	NM_001040260.3	605	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47142.2	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCTTGGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF122,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000303887	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000302176	Transcript	.	.	ENSG00000170390	19002	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCLK2_HUMAN	DCLK2	HGNC	.	.	UPI0000D615C9	SNV	DCLK2,synonymous_variant,p.%3D,ENST00000302176,;DCLK2,synonymous_variant,p.%3D,ENST00000296550,;DCLK2,synonymous_variant,p.%3D,ENST00000506325,;DCLK2,synonymous_variant,p.%3D,ENST00000411937,;	1866	61	96	SUCCESS
FAM218A	152756	.	GRCh37	4	165878425	165878425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	231	104	302	1	ENST00000513876.2:c.251T>C	p.Phe84Ser	p.F84S	ENST00000513876	NM_153027.1	84	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS3807.1	251	RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTTCTCCG	NONE	.	.	.	.	.	ENSP00000427428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000513876	Transcript	.	.	ENSG00000250486	26466	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.504)	.	deleterious_low_confidence(0)	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,missense_variant,p.Phe84Ser,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	326	304	335	SUCCESS
PDCL2	132954	.	GRCh37	4	56422846	56422846	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	64	0	ENST00000295645.4:c.604A>T	p.Ile202Leu	p.I202L	ENST00000295645	NM_152401.2	202	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS47059.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTATTGCTC	NONE	.	.	hmmpanther:PTHR21148:SF18,hmmpanther:PTHR21148,Gene3D:3.40.30.10,Pfam_domain:PF02114,Superfamily_domains:SSF52833	.	.	ENSP00000295645	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295645	Transcript	.	.	ENSG00000163440	29524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	tolerated(0.09)	.	PDCL2_HUMAN	PDCL2	HGNC	.	.	UPI000020B8D5	SNV	PDCL2,missense_variant,p.Ile202Leu,ENST00000295645,;	707	64	78	SUCCESS
ALB	213	.	GRCh37	4	74283832	74283834	+	inframe_deletion	In_Frame_Del	DEL	GTG	GTG	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	GTG	GTG	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	48	0	ENST00000295897.4:c.1456_1458del	p.Val486del	p.V486del	ENST00000295897	NM_000477.5	486	GTG/-	0	.	.	.	.	.	-	V/-	protein_coding	YES	CCDS3555.1	1456-1458	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATGTGTGTTGCA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,inframe_deletion,p.Val486del,ENST00000509063,;ALB,inframe_deletion,p.Val331del,ENST00000511370,;ALB,inframe_deletion,p.Val294del,ENST00000415165,;ALB,inframe_deletion,p.Val486del,ENST00000295897,;ALB,inframe_deletion,p.Val336del,ENST00000503124,;ALB,inframe_deletion,p.Val371del,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1545-1547	48	87	SUCCESS
NUDT12	83594	.	GRCh37	5	102895039	102895039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	31	61	0	ENST00000230792.2:c.337G>A	p.Glu113Lys	p.E113K	ENST00000230792	NM_031438.2	113	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4096.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCATTCG	NONE	.	.	.	.	.	ENSP00000230792	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,missense_variant,p.Glu95Lys,ENST00000507423,;NUDT12,missense_variant,p.Glu113Lys,ENST00000230792,;NUDT12,upstream_gene_variant,,ENST00000515407,;NUDT12,downstream_gene_variant,,ENST00000508889,;	434	61	132	SUCCESS
FBN2	2201	.	GRCh37	5	127674670	127674670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	264	17	191	0	ENST00000262464.4:c.3427T>C	p.Phe1143Leu	p.F1143L	ENST00000262464	NM_001999.3	1143	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS34222.1	3427	MUTECT|MUSE	.	TTCGAAGCACT	BUFFER|p.E1144K|c.3430G>A|3	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	32/71	.	.	.	.	.	.	.	.	.	32/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.267)	.	tolerated(0.21)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Phe1143Leu,ENST00000262464,;FBN2,missense_variant,p.Phe1143Leu,ENST00000508053,;FBN2,missense_variant,p.Phe1110Leu,ENST00000508989,;FBN2,5_prime_UTR_variant,,ENST00000507835,;	4402	191	282	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140856170	140856170	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	20	174	0	ENST00000308177.3:c.487G>T	p.Asp163Tyr	p.D163Y	ENST00000308177	NM_002588.2	163	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4261.1	487	MUTECT|MUSE|VARSCANS	.	ATCCCGATGTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	COSM420860,COSM420861	1/4	PASS	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	SNV	PCDHGC3,missense_variant,p.Asp163Tyr,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	591	175	236	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159797621	159797621	+	synonymous_variant	Silent	SNP	C	C	A	rs766542748	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	17	0	ENST00000393975.3:c.24G>T	p.Pro8=	p.P8=	ENST00000393975	NM_031908.4	8	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4351.2	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCGGCCC	NONE	byFrequency	.	.	.	.	ENSP00000377545	.	1/3	.	.	.	.	.	.	.	.	rs766542748	1/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,synonymous_variant,p.%3D,ENST00000393975,;	28	17	33	SUCCESS
HK3	3101	.	GRCh37	5	176318451	176318451	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753665029	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	10	97	0	ENST00000292432.5:c.197C>T	p.Ala66Val	p.A66V	ENST00000292432	NM_002115.2	66	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4407.1	197	MUTECT|MUSE	.	GGCTGGCCTGT	NONE	.	.	Pfam_domain:PF00349,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	3/19	.	.	.	.	.	.	.	.	rs753665029	3/19	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	deleterious(0.02)	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,missense_variant,p.Ala66Val,ENST00000292432,;HK3,missense_variant,p.Ala30Val,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000504910,;HK3,upstream_gene_variant,,ENST00000506834,;	289	97	128	SUCCESS
DBN1	1627	.	GRCh37	5	176885388	176885388	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs142184479	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	73	136	1	ENST00000309007.5:c.1447G>T	p.Gly483Trp	p.G483W	ENST00000309007	NM_004395.3	483	Ggg/Tgg	0	T:0	.	.	.	.	A	G/W	protein_coding	YES	CCDS4421.1	1453	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCGTTGC	NONE	byCluster	.	hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829	.	T:0.0001	ENSP00000292385	.	13/15	.	.	.	.	.	.	.	.	rs142184479	13/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Gly483Trp,ENST00000309007,;DBN1,missense_variant,p.Gly215Trp,ENST00000393563,;DBN1,missense_variant,p.Gly485Trp,ENST00000292385,;DBN1,missense_variant,p.Gly529Trp,ENST00000393565,;DBN1,missense_variant,p.Gly215Trp,ENST00000512501,;PRR7,downstream_gene_variant,,ENST00000323249,;PRR7,downstream_gene_variant,,ENST00000510492,;PRR7,downstream_gene_variant,,ENST00000502922,;DBN1,downstream_gene_variant,,ENST00000477391,;PRR7,downstream_gene_variant,,ENST00000507881,;DBN1,non_coding_transcript_exon_variant,,ENST00000467054,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;	2063	137	185	SUCCESS
OR2Y1	134083	.	GRCh37	5	180166721	180166721	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	9	98	0	ENST00000307832.2:c.338T>G	p.Val113Gly	p.V113G	ENST00000307832	NM_001001657.1	113	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS34323.1	338	MUTECT|MUSE	.	GGAGCACACAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000312403	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307832	Transcript	.	.	ENSG00000174339	14837	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	OR2Y1_HUMAN	OR2Y1	HGNC	.	.	UPI0000041BCE	SNV	OR2Y1,missense_variant,p.Val113Gly,ENST00000307832,;	379	98	129	SUCCESS
TAAR9	134860	.	GRCh37	6	132859671	132859671	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	108	196	0	ENST00000434551.1:c.243G>C	p.Val81=	p.V81=	ENST00000434551	NM_175057.3	81	gtG/gtC	0	.	.	.	.	.	C	V	polymorphic_pseudogene	YES	.	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGGGAGT	NONE	.	.	.	.	.	ENSP00000424607	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434551	Transcript	.	.	ENSG00000237110	20977	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TAAR9	HGNC	.	.	.	SNV	TAAR9,synonymous_variant,p.%3D,ENST00000434551,;	243	196	293	SUCCESS
OLIG3	167826	.	GRCh37	6	137815097	137815097	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	6	94	0	ENST00000367734.2:c.211A>G	p.Lys71Glu	p.K71E	ENST00000367734	NM_175747.2	71	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS5186.1	211	MUTECT|MUSE	.	GATTTTGTACT	NONE	.	.	hmmpanther:PTHR19290:SF89,hmmpanther:PTHR19290	.	.	ENSP00000356708	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367734	Transcript	.	.	ENSG00000177468	18003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	OLIG3_HUMAN	OLIG3	HGNC	.	.	UPI000006F9D6	SNV	OLIG3,missense_variant,p.Lys71Glu,ENST00000367734,;	435	94	123	SUCCESS
HIST1H1B	0	.	GRCh37	6	27834746	27834746	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs745570564	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	85	0	ENST00000331442.3:c.562A>G	p.Lys188Glu	p.K188E	ENST00000331442	NM_005322.2	188	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4635.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTGGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF24,hmmpanther:PTHR11467	.	.	ENSP00000330074	.	1/1	.	.	.	.	.	.	.	.	rs745570564	1/1	PASS	ENST00000331442	Transcript	.	.	ENSG00000184357	4719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	H15_HUMAN	HIST1H1B	HGNC	.	.	UPI0000001BDA	SNV	HIST1H1B,missense_variant,p.Lys188Glu,ENST00000331442,;HIST1H2AL,downstream_gene_variant,,ENST00000357320,;HIST1H3I,downstream_gene_variant,,ENST00000328488,;HIST1H2BPS2,upstream_gene_variant,,ENST00000402707,;	614	85	119	SUCCESS
TNXB	7148	.	GRCh37	6	32036335	32036335	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	33	146	0	ENST00000375244.3:c.6052C>G	p.Leu2018Val	p.L2018V	ENST00000375244		2018	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	.	.	6052	RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGAAGT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	17/44	.	.	.	.	.	.	.	.	.	17/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.Leu2018Val,ENST00000375247,;TNXB,missense_variant,p.Leu2018Val,ENST00000375244,;	6254	146	210	SUCCESS
NFYA	4800	.	GRCh37	6	41048594	41048594	+	synonymous_variant	Silent	SNP	G	G	A	rs771405179	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	62	0	ENST00000341376.6:c.120G>A	p.Gln40=	p.Q40=	ENST00000341376	NM_002505.4	40	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS4849.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12632	.	.	ENSP00000345702	.	3/10	.	.	.	.	.	.	.	.	rs771405179	3/10	PASS	ENST00000341376	Transcript	.	.	ENSG00000001167	7804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFYA_HUMAN	NFYA	HGNC	K9JA49_HUMAN	.	UPI000012717C	SNV	NFYA,synonymous_variant,p.%3D,ENST00000341376,;OARD1,intron_variant,,ENST00000488238,;NFYA,intron_variant,,ENST00000353205,;OARD1,intron_variant,,ENST00000480585,;	321	62	118	SUCCESS
AARS2	57505	.	GRCh37	6	44273478	44273478	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	224	79	189	0	ENST00000244571.4:c.1346C>T	p.Pro449Leu	p.P449L	ENST00000244571	NM_020745.3	449	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34464.1	1346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGGGAGT	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344,Superfamily_domains:0049182	.	.	ENSP00000244571	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,missense_variant,p.Pro449Leu,ENST00000244571,;TMEM151B,intron_variant,,ENST00000438774,;AARS2,upstream_gene_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	1349	189	304	SUCCESS
DOPEY1	0	.	GRCh37	6	83866961	83866961	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	71	0	ENST00000349129.2:c.6665T>C	p.Leu2222Pro	p.L2222P	ENST00000349129	NM_015018.3	2222	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4996.1	6665	MUTECT|MUSE	.	GTTCCTGTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	.	ENSP00000195654	.	35/39	.	.	.	.	.	.	.	.	.	35/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,missense_variant,p.Leu2213Pro,ENST00000369739,;DOPEY1,missense_variant,p.Leu2222Pro,ENST00000349129,;DOPEY1,intron_variant,,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000481979,;PGM3,downstream_gene_variant,,ENST00000504780,;	6925	71	92	SUCCESS
ZAN	7455	.	GRCh37	7	100364744	100364744	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	22	127	0	ENST00000546292.1:c.4724G>T	p.Arg1575Met	p.R1575M	ENST00000546292	NM_173059.1	1575	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	.	4724	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGGTCCC	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000445943	.	24/46	.	.	.	.	.	.	.	.	COSM1083057,COSM1083058,COSM1596558	24/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	unknown(0)	.	.	1,1,1	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Arg152Met,ENST00000546213,;ZAN,missense_variant,p.Arg1575Met,ENST00000546292,;ZAN,missense_variant,p.Arg1575Met,ENST00000542585,;ZAN,missense_variant,p.Arg1575Met,ENST00000538115,;ZAN,missense_variant,p.Arg1575Met,ENST00000421100,;ZAN,missense_variant,p.Arg1575Met,ENST00000349350,;ZAN,missense_variant,p.Arg1575Met,ENST00000427578,;ZAN,missense_variant,p.Arg1575Met,ENST00000348028,;ZAN,missense_variant,p.Arg1575Met,ENST00000449052,;ZAN,missense_variant,p.Arg1575Met,ENST00000443370,;	4872	127	182	SUCCESS
PSMC2	5701	.	GRCh37	7	102988211	102988211	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	68	139	0	ENST00000292644.3:c.53A>C	p.Asp18Ala	p.D18A	ENST00000292644		18	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS5731.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGACGACA	NONE	.	.	hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF13	.	.	ENSP00000391211	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000435765	Transcript	.	.	ENSG00000161057	9548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.16)	.	PRS7_HUMAN	PSMC2	HGNC	Q75L23_HUMAN,C9JLS9_HUMAN,B7Z5E2_HUMAN	.	UPI000013237A	SNV	PSMC2,missense_variant,p.Asp18Ala,ENST00000435765,;PSMC2,missense_variant,p.Asp18Ala,ENST00000292644,;PSMC2,missense_variant,p.Asp18Ala,ENST00000457587,;PSMC2,missense_variant,p.Asp18Ala,ENST00000425206,;PSMC2,5_prime_UTR_variant,,ENST00000544811,;SLC26A5,downstream_gene_variant,,ENST00000339444,;DNAJC2,upstream_gene_variant,,ENST00000249270,;DNAJC2,upstream_gene_variant,,ENST00000379263,;DNAJC2,upstream_gene_variant,,ENST00000454277,;SLC26A5,downstream_gene_variant,,ENST00000393735,;DNAJC2,upstream_gene_variant,,ENST00000412522,;SLC26A5,downstream_gene_variant,,ENST00000356767,;DNAJC2,upstream_gene_variant,,ENST00000426036,;DNAJC2,upstream_gene_variant,,ENST00000464253,;DNAJC2,upstream_gene_variant,,ENST00000379257,;CTA-276O3.4,upstream_gene_variant,,ENST00000452798,;	464	139	161	SUCCESS
DOCK4	9732	.	GRCh37	7	111517084	111517084	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	35	0	ENST00000437633.1:c.1744+2T>C		p.X582_splice	ENST00000437633	NM_014705.3	582		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47688.1	.	MUTECT|MUSE	.	ACATTACCATT	NONE	.	.	.	.	.	ENSP00000404179	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	HIGH	17/51	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,splice_donor_variant,,ENST00000445943,;DOCK4,splice_donor_variant,,ENST00000428084,;DOCK4,splice_donor_variant,,ENST00000423057,;DOCK4,splice_donor_variant,,ENST00000437633,;DOCK4,splice_donor_variant,,ENST00000476846,;DOCK4,upstream_gene_variant,,ENST00000492532,;	.	35	80	SUCCESS
CADPS2	93664	.	GRCh37	7	122526154	122526154	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	26	85	0	ENST00000449022.2:c.238G>C	p.Glu80Gln	p.E80Q	ENST00000449022	NM_017954.10	80	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS55158.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTCCTGCT	NONE	.	.	hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	.	.	ENSP00000398481	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.05)	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,missense_variant,p.Glu80Gln,ENST00000334010,;CADPS2,missense_variant,p.Glu80Gln,ENST00000449022,;CADPS2,missense_variant,p.Glu80Gln,ENST00000313070,;CADPS2,missense_variant,p.Glu80Gln,ENST00000412584,;	258	85	128	SUCCESS
VWDE	221806	.	GRCh37	7	12409576	12409576	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	61	104	0	ENST00000275358.3:c.2356G>T	p.Asp786Tyr	p.D786Y	ENST00000275358	NM_001135924.1	786	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47544.1	2356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCCTCAG	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Asp786Tyr,ENST00000275358,;VWDE,missense_variant,p.Asp786Tyr,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	2545	104	147	SUCCESS
KCP	375616	.	GRCh37	7	128531548	128531548	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	31	0	ENST00000476647.2:n.1878A>G		p.*626*	ENST00000476647				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTCCGCT	NONE	.	.	.	.	.	.	.	18/40	.	.	.	.	.	.	.	.	.	18/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000487494,;KCP,non_coding_transcript_exon_variant,,ENST00000479474,;	1878	31	32	SUCCESS
PRSS1	5644	.	GRCh37	7	142458441	142458441	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766579839	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	424	57	278	0	ENST00000311737.7:c.76G>A	p.Gly26Arg	p.G26R	ENST00000311737	NM_002769.4	26	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS5872.1	76	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTGGGGGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	2/5	.	.	.	.	.	.	.	.	rs766579839	2/5	PASS	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,missense_variant,p.Gly26Arg,ENST00000486171,;PRSS1,missense_variant,p.Gly26Arg,ENST00000311737,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,;	82	278	481	SUCCESS
HDAC9	9734	.	GRCh37	7	18688299	18688299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	70	0	ENST00000432645.2:c.1451T>A	p.Met484Lys	p.M484K	ENST00000432645	NM_058176.2	484	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS47553.1	1460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGAACA	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0.02)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Met443Lys,ENST00000401921,;HDAC9,missense_variant,p.Met484Lys,ENST00000405010,;HDAC9,missense_variant,p.Met440Lys,ENST00000428307,;HDAC9,missense_variant,p.Met487Lys,ENST00000441542,;HDAC9,missense_variant,p.Met482Lys,ENST00000417496,;HDAC9,missense_variant,p.Met471Lys,ENST00000406072,;HDAC9,missense_variant,p.Met484Lys,ENST00000406451,;HDAC9,missense_variant,p.Met456Lys,ENST00000456174,;HDAC9,missense_variant,p.Met484Lys,ENST00000432645,;HDAC9,missense_variant,p.Met407Lys,ENST00000524023,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1460	70	127	SUCCESS
IGF2BP3	10643	.	GRCh37	7	23353255	23353255	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	33	0	ENST00000258729.3:c.1413T>C	p.Tyr471=	p.Y471=	ENST00000258729	NM_006547.2	471	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS5382.1	1413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCATAAAT	BUFFER|p.I474M|c.1422T>G|3	.	.	hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000258729	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000258729	Transcript	.	.	ENSG00000136231	28868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B3_HUMAN	IGF2BP3	HGNC	.	.	UPI0000117172	SNV	IGF2BP3,synonymous_variant,p.%3D,ENST00000258729,;MALSU1,downstream_gene_variant,,ENST00000466681,;IGF2BP3,3_prime_UTR_variant,,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000498363,;IGF2BP3,downstream_gene_variant,,ENST00000467592,;MALSU1,downstream_gene_variant,,ENST00000476623,;	1770	33	73	SUCCESS
CHST12	55501	.	GRCh37	7	2472325	2472325	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	35	31	0	ENST00000258711.6:c.51C>A	p.Phe17Leu	p.F17L	ENST00000258711	NM_001243794.1	17	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS5333.1	51	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCATGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF4	.	.	ENSP00000258711	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000258711	Transcript	.	.	ENSG00000136213	17423	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.33)	.	CHSTC_HUMAN	CHST12	HGNC	C9J991_HUMAN	.	UPI000004C65C	SNV	CHST12,missense_variant,p.Phe17Leu,ENST00000258711,;CHST12,missense_variant,p.Phe17Leu,ENST00000432336,;	186	31	66	SUCCESS
PDE1C	5137	.	GRCh37	7	31829777	31829777	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	26	0	ENST00000321453.7:c.1892-14431C>G		p.*631*	ENST00000321453	NM_001191059.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55100.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAAGGA	NONE	.	.	.	.	.	ENSP00000379496	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODIFIER	17/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,3_prime_UTR_variant,,ENST00000396184,;PDE1C,intron_variant,,ENST00000396191,;PDE1C,intron_variant,,ENST00000396193,;PDE1C,intron_variant,,ENST00000321453,;PDE1C,downstream_gene_variant,,ENST00000396182,;AC006377.1,upstream_gene_variant,,ENST00000411138,;PDE1C,downstream_gene_variant,,ENST00000479980,;	.	26	36	SUCCESS
TBX20	57057	.	GRCh37	7	35242186	35242186	+	synonymous_variant	Silent	SNP	C	C	A	rs541075247	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	306	88	249	0	ENST00000408931.3:c.1200G>T	p.Ser400=	p.S400=	ENST00000408931	NM_001077653.2	400	tcG/tcT	0	.	T:0	.	T:0.0029	.	A	S	protein_coding	YES	CCDS43568.1	1200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCGATGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11267	T:0	.	ENSP00000386170	T:0	8/8	.	.	.	.	.	.	.	.	rs541075247	8/8	PASS	ENST00000408931	Transcript	.	T:0.0004	ENSG00000164532	11598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TBX20_HUMAN	TBX20	HGNC	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN	.	UPI00004B23D3	SNV	TBX20,synonymous_variant,p.%3D,ENST00000408931,;	1727	250	395	SUCCESS
SDK1	221935	.	GRCh37	7	4091432	4091432	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	14	114	0	ENST00000404826.2:c.2881A>T	p.Thr961Ser	p.T961S	ENST00000404826	NM_152744.3	961	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS34590.1	2881	MUTECT|MUSE	.	CCAGCACACCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	19/45	.	.	.	.	.	.	.	.	.	19/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.59)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Thr961Ser,ENST00000404826,;SDK1,missense_variant,p.Thr961Ser,ENST00000389531,;	3020	114	168	SUCCESS
SEMA3A	10371	.	GRCh37	7	83643576	83643576	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	53	0	ENST00000265362.4:c.759T>C	p.Asp253=	p.D253=	ENST00000265362	NM_006080.2	253	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS5599.1	759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCATCTAT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1074	53	88	SUCCESS
SUN1	23353	.	GRCh37	7	905675	905675	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	79	76	0	ENST00000401592.1:c.1951T>G	p.Phe651Val	p.F651V	ENST00000401592	NM_001130965.2	651	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS47525.1	1951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTTCTCG	NONE	.	.	PROSITE_profiles:PS51469,hmmpanther:PTHR12911:SF18,hmmpanther:PTHR12911,Pfam_domain:PF07738	.	.	ENSP00000384015	.	16/19	.	.	.	.	.	.	.	.	COSM3883240,COSM3883239,COSM3883241	16/19	PASS	ENST00000401592	Transcript	.	.	ENSG00000164828	18587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.982)	.	deleterious(0.02)	1,1,1	SUN1_HUMAN	SUN1	HGNC	Q5S4N2_HUMAN,C9K051_HUMAN,C9JS54_HUMAN,C9JR15_HUMAN,C9JK55_HUMAN,C9JJU6_HUMAN	.	UPI000020E965	SNV	SUN1,missense_variant,p.Phe548Val,ENST00000452783,;SUN1,missense_variant,p.Phe840Val,ENST00000456758,;SUN1,missense_variant,p.Phe500Val,ENST00000433212,;SUN1,missense_variant,p.Phe576Val,ENST00000429178,;SUN1,missense_variant,p.Phe688Val,ENST00000405266,;SUN1,missense_variant,p.Phe568Val,ENST00000425407,;SUN1,missense_variant,p.Phe651Val,ENST00000401592,;SUN1,missense_variant,p.Phe449Val,ENST00000413514,;SUN1,missense_variant,p.Phe568Val,ENST00000389574,;SUN1,missense_variant,p.Phe369Val,ENST00000457861,;SUN1,non_coding_transcript_exon_variant,,ENST00000413171,;SUN1,non_coding_transcript_exon_variant,,ENST00000475971,;SUN1,upstream_gene_variant,,ENST00000497943,;	1975	76	173	SUCCESS
USP17L2	377630	.	GRCh37	8	11995368	11995368	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs528142888	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	19	163	0	ENST00000333796.3:c.902T>C	p.Leu301Pro	p.L301P	ENST00000333796	NM_201402.2	301	cTt/cCt	0	.	G:0	.	G:0	.	G	L/P	protein_coding	YES	CCDS43713.1	902	MUTECT|MUSE|VARSCANS	.	TGTCAAGGCAC	NONE	by1000G	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382,Pfam_domain:PF00443,Superfamily_domains:SSF54001	G:0	.	ENSP00000333329	G:0.001	1/1	.	.	.	.	.	.	.	.	rs528142888	1/1	PASS	ENST00000333796	Transcript	.	G:0.0002	ENSG00000223443	34434	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.908)	G:0	deleterious(0)	.	U17L2_HUMAN	USP17L2	HGNC	.	.	UPI0000198137	SNV	USP17L2,missense_variant,p.Leu301Pro,ENST00000333796,;FAM66D,intron_variant,,ENST00000434078,;USP17L7,upstream_gene_variant,,ENST00000530447,;USP17L7,upstream_gene_variant,,ENST00000416902,;	1219	163	191	SUCCESS
PTP4A3	11156	.	GRCh37	8	142435203	142435203	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765340391	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	23	57	0	ENST00000329397.1:c.161A>T	p.Asp54Val	p.D54V	ENST00000329397		54	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6383.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGACAAAA	NONE	byFrequency	.	hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF57,Pfam_domain:PF00102,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000428976	.	3/6	.	.	.	.	.	.	.	.	rs765340391	3/6	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,missense_variant,p.Asp54Val,ENST00000349124,;PTP4A3,missense_variant,p.Asp54Val,ENST00000521578,;PTP4A3,missense_variant,p.Asp54Val,ENST00000329397,;PTP4A3,missense_variant,p.Asp54Val,ENST00000520105,;PTP4A3,missense_variant,p.Asp54Val,ENST00000523147,;PTP4A3,intron_variant,,ENST00000524028,;	1106	57	108	SUCCESS
PCM1	5108	.	GRCh37	8	17815276	17815276	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759531841	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	87	0	ENST00000325083.8:c.2032A>G	p.Met678Val	p.M678V	ENST00000325083	NM_006197.3	678	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS47812.1	2032	MUTECT|MUSE	.	TTGCTATGGTA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12	.	.	ENSP00000327077	.	13/39	.	.	.	.	.	.	.	.	rs759531841	13/39	PASS	ENST00000325083	Transcript	1	.	ENSG00000078674	8727	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	tolerated(0.07)	.	PCM1_HUMAN	PCM1	HGNC	E5RGQ4_HUMAN	.	UPI0000210A25	SNV	PCM1,missense_variant,p.Met679Val,ENST00000524226,;PCM1,missense_variant,p.Met678Val,ENST00000519253,;PCM1,missense_variant,p.Met717Val,ENST00000517730,;PCM1,missense_variant,p.Met678Val,ENST00000325083,;PCM1,downstream_gene_variant,,ENST00000523055,;PCM1,downstream_gene_variant,,ENST00000518537,;PCM1,downstream_gene_variant,,ENST00000518930,;PCM1,upstream_gene_variant,,ENST00000518762,;PCM1,non_coding_transcript_exon_variant,,ENST00000517836,;	2471	87	60	SUCCESS
NKX3-1	4824	.	GRCh37	8	23538852	23538852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	51	0	ENST00000380871.4:c.587C>T	p.Ser196Phe	p.S196F	ENST00000380871	NM_006167.3	196	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS6042.1	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGAGGAG	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF30	.	.	ENSP00000370253	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380871	Transcript	.	.	ENSG00000167034	7838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.01)	.	NKX31_HUMAN	NKX3-1	HGNC	.	.	UPI00001301F4	SNV	NKX3-1,missense_variant,p.Ser196Phe,ENST00000380871,;NKX3-1,missense_variant,p.Ser121Phe,ENST00000523261,;	625	51	34	SUCCESS
OR13C8	138802	.	GRCh37	9	107331510	107331510	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	50	0	ENST00000335040.1:c.62C>A	p.Pro21Gln	p.P21Q	ENST00000335040	NM_001004483.1	21	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS35090.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCAAAGC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87	.	.	ENSP00000334068	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335040	Transcript	.	.	ENSG00000186943	15103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O13C8_HUMAN	OR13C8	HGNC	.	.	UPI000004B203	SNV	OR13C8,missense_variant,p.Pro21Gln,ENST00000335040,;	62	50	50	SUCCESS
NUP188	23511	.	GRCh37	9	131762026	131762026	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762925015	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	8	124	0	ENST00000372577.2:c.3785A>T	p.Lys1262Met	p.K1262M	ENST00000372577	NM_015354.2	1262	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS35156.1	3785	MUTECT|MUSE	.	GGACAAGGACA	NONE	.	.	hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1	.	.	ENSP00000361658	.	34/44	.	.	.	.	.	.	.	.	rs762925015	34/44	PASS	ENST00000372577	Transcript	.	.	ENSG00000095319	17859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.847)	.	deleterious(0.03)	.	NU188_HUMAN	NUP188	HGNC	.	.	UPI000041A60F	SNV	NUP188,missense_variant,p.Lys1262Met,ENST00000372577,;RP11-167N5.5,downstream_gene_variant,,ENST00000594418,;NUP188,downstream_gene_variant,,ENST00000467044,;NUP188,non_coding_transcript_exon_variant,,ENST00000487952,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,downstream_gene_variant,,ENST00000495726,;NUP188,downstream_gene_variant,,ENST00000485158,;	3806	124	115	SUCCESS
RXRA	6256	.	GRCh37	9	137300011	137300011	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	48	97	0	ENST00000481739.1:c.296A>G	p.Asn99Ser	p.N99S	ENST00000481739	NM_002957.4	99	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS35172.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAACCCCG	NONE	.	.	Pfam_domain:PF11825,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.36)	.	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Asn99Ser,ENST00000481739,;RXRA,missense_variant,p.Asn2Ser,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;RXRA,downstream_gene_variant,,ENST00000484822,;	348	97	139	SUCCESS
SLC24A2	25769	.	GRCh37	9	19528053	19528053	+	synonymous_variant	Silent	SNP	C	C	T	rs201117303	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	85	0	ENST00000341998.2:c.1563G>A	p.Ala521=	p.A521=	ENST00000341998	NM_001193288.2	521	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS6493.1	1563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCGCCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	T:0.001	.	ENSP00000344801	T:0	8/10	.	.	.	.	.	.	.	.	rs201117303	8/10	PASS	ENST00000341998	Transcript	.	T:0.0002	ENSG00000155886	10976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,synonymous_variant,p.%3D,ENST00000341998,;SLC24A2,synonymous_variant,p.%3D,ENST00000286344,;	1625	85	104	SUCCESS
ZNF658	26149	.	GRCh37	9	40773313	40773313	+	synonymous_variant	Silent	SNP	C	C	A	rs138850783	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	117	0	ENST00000602553.1:c.1962G>T	p.Gly654=	p.G654=	ENST00000602553		654	ggG/ggT	0	G:0	G:0	.	G:0	.	A	G	protein_coding	YES	CCDS35023.1	1962	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCCCTGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	G:0	G:0.0008	ENSP00000473484	G:0.003	5/5	.	.	.	.	.	.	.	.	rs138850783	5/5	PASS	ENST00000602553	Transcript	.	G:0.0006	ENSG00000196409	25226	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	ZN658_HUMAN	ZNF658	HGNC	B3KNB1_HUMAN	.	UPI000046D388	SNV	ZNF658,synonymous_variant,p.%3D,ENST00000377626,;ZNF658,synonymous_variant,p.%3D,ENST00000602553,;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;	2257	117	115	SUCCESS
NXF5	55998	.	GRCh37	X	101095774	101095774	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	42	179	0	ENST00000263032.1:c.574C>G	p.Leu192Val	p.L192V	ENST00000263032		192	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14491.2	574	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGATTCA	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF26,PROSITE_profiles:PS51450	.	.	ENSP00000442401	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000537026	Transcript	.	.	ENSG00000126952	8075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	NXF5_HUMAN	NXF5	HGNC	.	.	UPI0000F059DC	SNV	NXF5,missense_variant,p.Leu192Val,ENST00000473265,;NXF5,missense_variant,p.Leu192Val,ENST00000361708,;NXF5,missense_variant,p.Leu192Val,ENST00000537026,;NXF5,missense_variant,p.Leu129Val,ENST00000332614,;NXF5,missense_variant,p.Leu129Val,ENST00000361330,;NXF5,missense_variant,p.Leu192Val,ENST00000372803,;NXF5,missense_variant,p.Leu192Val,ENST00000263032,;NXF5,3_prime_UTR_variant,,ENST00000493509,;	934	179	211	SUCCESS
FAM58A	0	.	GRCh37	X	152858107	152858107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	48	69	1	ENST00000406277.2:c.508G>T	p.Ala170Ser	p.A170S	ENST00000406277	NM_152274.4	170	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	.	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCAGG	NONE	.	.	hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF60,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000384396	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000406277	Transcript	.	.	ENSG00000147382	28434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.552)	.	tolerated(0.19)	.	.	FAM58A	HGNC	D3DWU4_HUMAN,K7EM37_HUMAN,J3QT30_HUMAN	.	UPI0001AE6FCF	SNV	FAM58A,missense_variant,p.Ala130Ser,ENST00000482182,;FAM58A,missense_variant,p.Ala170Ser,ENST00000406277,;FAM58A,missense_variant,p.Ala65Ser,ENST00000440428,;FAM58A,intron_variant,,ENST00000429336,;FAM58A,non_coding_transcript_exon_variant,,ENST00000276345,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370173,;FAM58A,non_coding_transcript_exon_variant,,ENST00000470284,;FAM58A,non_coding_transcript_exon_variant,,ENST00000465867,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370175,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370171,;FAM58A,intron_variant,,ENST00000428722,;	611	70	74	SUCCESS
F8	2157	.	GRCh37	X	154197619	154197619	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	66	0	ENST00000360256.4:c.996T>A	p.Ser332=	p.S332=	ENST00000360256	NM_000132.3	332	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS35457.1	996	MUTECT|MUSE	.	TGGGAAGAGAT	NONE	.	.	PROSITE_patterns:PS00079,Gene3D:2.60.40.420,Pfam_domain:PF00394,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	.	.	ENSP00000353393	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,synonymous_variant,p.%3D,ENST00000360256,;F8,upstream_gene_variant,,ENST00000483822,;	1197	66	80	SUCCESS
DCAF8L2	347442	.	GRCh37	X	27765563	27765563	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1431192056	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	177	0	ENST00000451261.2:c.551G>A	p.Arg184Gln	p.R184Q	ENST00000451261	NM_001136533.1	184	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS59162.1	551	MUTECT|MUSE	.	GCCCCGACCTC	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF36	.	.	ENSP00000462745	.	5/5	.	.	.	.	.	.	.	.	COSM1467347	5/5	PASS	ENST00000451261	Transcript	.	.	ENSG00000189186	31811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.057)	.	tolerated(0.19)	1	DC8L2_HUMAN	DCAF8L2	HGNC	J3QRI4_HUMAN	.	UPI000183CBD9	SNV	DCAF8L2,missense_variant,p.Arg184Gln,ENST00000451261,;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;AC107613.1,non_coding_transcript_exon_variant,,ENST00000545306,;	950	177	149	SUCCESS
CHM	1121	.	GRCh37	X	85302520	85302520	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201252021	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	104	142	0	ENST00000357749.2:c.17C>T	p.Pro6Leu	p.P6L	ENST00000357749	NM_000390.2	6	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14454.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAAGGGAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,Pfam_domain:PF00996,Gene3D:3.50.50.60,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905	.	.	ENSP00000350386	.	1/15	.	.	.	.	.	.	.	.	rs201252021,CD022133	1/15	PASS	ENST00000357749	Transcript	.	.	ENSG00000188419	1940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0.01)	.	RAE1_HUMAN	CHM	HGNC	B4DRL9_HUMAN	.	UPI0000049C8C	SNV	CHM,missense_variant,p.Pro6Leu,ENST00000358786,;CHM,missense_variant,p.Pro6Leu,ENST00000357749,;CHM,5_prime_UTR_variant,,ENST00000537751,;CHM,non_coding_transcript_exon_variant,,ENST00000483950,;CHM,upstream_gene_variant,,ENST00000467744,;	47	142	166	SUCCESS
SLC18A2	6571	.	GRCh37	10	119003680	119003680	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	18	156	0	ENST00000298472.5:c.320T>C	p.Val107Ala	p.V107A	ENST00000298472	NM_003054.4	107	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7599.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTGACCA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF63,Pfam_domain:PF07690	.	.	ENSP00000298472	.	3/16	.	.	.	.	.	.	.	.	.	3/16	nonpreferredpair	ENST00000298472	Transcript	1	.	ENSG00000165646	10935	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.34)	.	VMAT2_HUMAN	SLC18A2	HGNC	.	.	UPI00001389DE	SNV	SLC18A2,missense_variant,p.Val107Ala,ENST00000298472,;RP11-501J20.5,upstream_gene_variant,,ENST00000425264,;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	463	156	158	SUCCESS
DOCK1	1793	.	GRCh37	10	128796464	128796464	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	54	168	0	ENST00000280333.6:c.718G>A	p.Ala240Thr	p.A240T	ENST00000280333	NM_001380.3	240	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGCTGAA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79	.	.	ENSP00000280333	.	8/52	.	.	.	.	.	.	.	.	.	8/52	nonpreferredpair	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious(0.03)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Ala240Thr,ENST00000280333,;RP11-223P11.3,downstream_gene_variant,,ENST00000601826,;RP11-223P11.3,downstream_gene_variant,,ENST00000595456,;RP11-223P11.3,downstream_gene_variant,,ENST00000594559,;RP11-223P11.3,downstream_gene_variant,,ENST00000594614,;RP11-223P11.3,downstream_gene_variant,,ENST00000601242,;	827	168	193	SUCCESS
DOCK1	1793	.	GRCh37	10	129216713	129216713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	64	0	ENST00000280333.6:c.4537G>T	p.Asp1513Tyr	p.D1513Y	ENST00000280333	NM_001380.3	1513	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	4537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGATGAC	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Pfam_domain:PF06920	.	.	ENSP00000280333	.	45/52	.	.	.	.	.	.	.	.	.	45/52	nonpreferredpair	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.08)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Asp1513Tyr,ENST00000280333,;	4646	64	86	SUCCESS
CXCL12	6387	.	GRCh37	10	44874043	44874043	+	intron_variant	Intron	SNP	G	G	T	rs760442279	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	104	0	ENST00000374429.2:c.266+42C>A		p.*89*	ENST00000374429	NM_000609.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53527.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGAGTGG	NONE	.	.	.	.	.	ENSP00000379140	.	.	.	.	.	.	.	.	.	.	rs760442279	.	nonpreferredpair	ENST00000395794	Transcript	.	.	ENSG00000107562	10672	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SDF1_HUMAN	CXCL12	HGNC	.	.	UPI0000684849	SNV	CXCL12,3_prime_UTR_variant,,ENST00000343575,;CXCL12,intron_variant,,ENST00000395795,;CXCL12,intron_variant,,ENST00000374426,;CXCL12,intron_variant,,ENST00000395793,;AL137026.1,intron_variant,,ENST00000593376,;CXCL12,intron_variant,,ENST00000395794,;CXCL12,intron_variant,,ENST00000374429,;CXCL12,non_coding_transcript_exon_variant,,ENST00000496375,;CXCL12,downstream_gene_variant,,ENST00000488591,;	.	104	86	SUCCESS
AKR1E2	83592	.	GRCh37	10	4875659	4875659	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	53	213	0	ENST00000298375.7:c.324+1G>T		p.X108_splice	ENST00000298375	NM_001040177.2	108		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31134.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTACCG	NONE	.	.	.	.	.	ENSP00000298375	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,splice_donor_variant,,ENST00000345253,;AKR1E2,splice_donor_variant,,ENST00000334019,;AKR1E2,splice_donor_variant,,ENST00000533295,;AKR1E2,splice_donor_variant,,ENST00000532248,;AKR1E2,splice_donor_variant,,ENST00000298375,;AKR1E2,splice_donor_variant,,ENST00000462718,;AKR1E2,splice_donor_variant,,ENST00000525627,;AKR1E2,splice_donor_variant,,ENST00000441590,;AKR1E2,intron_variant,,ENST00000525281,;AKR1E2,splice_donor_variant,,ENST00000463345,;AKR1E2,splice_donor_variant,,ENST00000474119,;AKR1E2,missense_variant,p.Val24Leu,ENST00000525572,;	.	213	249	SUCCESS
CHAT	1103	.	GRCh37	10	50863255	50863255	+	synonymous_variant	Silent	SNP	C	C	T	rs201580702	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	58	143	0	ENST00000337653.2:c.1749C>T	p.Ala583=	p.A583=	ENST00000337653	NM_020549.4	583	gcC/gcT	0	.	G:0	.	G:0.0029	.	T	A	protein_coding	YES	CCDS7232.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCGTGAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22589:SF14,hmmpanther:PTHR22589,Pfam_domain:PF00755,Superfamily_domains:SSF52777	G:0	.	ENSP00000337103	G:0	12/15	.	.	.	.	.	.	.	.	rs201580702	12/15	nonpreferredpair	ENST00000337653	Transcript	1	G:0.0004	ENSG00000070748	1912	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,synonymous_variant,p.%3D,ENST00000351556,;CHAT,synonymous_variant,p.%3D,ENST00000395562,;CHAT,synonymous_variant,p.%3D,ENST00000395559,;CHAT,synonymous_variant,p.%3D,ENST00000339797,;CHAT,synonymous_variant,p.%3D,ENST00000455728,;CHAT,synonymous_variant,p.%3D,ENST00000337653,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	1902	143	177	SUCCESS
GHITM	27069	.	GRCh37	10	85909939	85909939	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	16	92	0	ENST00000372134.3:c.721T>C	p.Phe241Leu	p.F241L	ENST00000372134	NM_014394.2	241	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS41542.1	721	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTTTCTG	NONE	.	.	Pfam_domain:PF01027,hmmpanther:PTHR23291:SF32,hmmpanther:PTHR23291,Transmembrane_helices:TMhelix	.	.	ENSP00000361207	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000372134	Transcript	.	.	ENSG00000165678	17281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.766)	.	deleterious(0.04)	.	GHITM_HUMAN	GHITM	HGNC	Q9P099_HUMAN,Q658I8_HUMAN,Q5VT94_HUMAN,B4DPG9_HUMAN	.	UPI0000049DE6	SNV	GHITM,missense_variant,p.Phe241Leu,ENST00000372134,;	914	92	145	SUCCESS
PLCE1	51196	.	GRCh37	10	95791740	95791740	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	68	0	ENST00000260766.3:c.937G>A	p.Asp313Asn	p.D313N	ENST00000260766	NM_016341.3	313	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS41552.1	937	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGACGCT	NONE	.	.	Superfamily_domains:0041591	.	.	ENSP00000360431	.	1/32	.	.	.	.	.	.	.	.	.	1/32	nonpreferredpair	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.632)	.	deleterious_low_confidence(0.01)	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,missense_variant,p.Asp313Asn,ENST00000371380,;PLCE1,missense_variant,p.Asp313Asn,ENST00000260766,;	1172	68	77	SUCCESS
ZNF518A	9849	.	GRCh37	10	97917317	97917317	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	40	127	0	ENST00000316045.5:n.572-330G>A		p.*191*	ENST00000316045				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGTTTCA	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	2095	127	174	SUCCESS
NXPE2	120406	.	GRCh37	11	114577377	114577377	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	10	118	0	ENST00000389586.4:c.1405A>C	p.Ile469Leu	p.I469L	ENST00000389586	NM_182495.5	469	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS44738.1	1405	MUTECT|MUSE	.	TCAATATTCAA	NONE	.	.	hmmpanther:PTHR16165:SF6,hmmpanther:PTHR16165	.	.	ENSP00000374237	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000389586	Transcript	.	.	ENSG00000204361	26331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.153)	.	deleterious(0.01)	.	NXPE2_HUMAN	NXPE2	HGNC	.	.	UPI0001662547	SNV	NXPE2,missense_variant,p.Ile469Leu,ENST00000389586,;NXPE2,intron_variant,,ENST00000375475,;	1595	118	133	SUCCESS
APOC3	345	.	GRCh37	11	116703552	116703552	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	60	158	0	ENST00000227667.3:c.252C>G	p.Phe84Leu	p.F84L	ENST00000227667	NM_000040.1	84	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS8377.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCTGGGA	NONE	.	.	Pfam_domain:PF05778,hmmpanther:PTHR14225,hmmpanther:PTHR14225:SF0	.	.	ENSP00000227667	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000227667	Transcript	.	.	ENSG00000110245	610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.83)	.	APOC3_HUMAN	APOC3	HGNC	A3KPE2_HUMAN,C9J2Q0_HUMAN	.	UPI0000125C26	SNV	APOC3,missense_variant,p.Phe102Leu,ENST00000375345,;APOC3,missense_variant,p.Phe84Leu,ENST00000227667,;APOA1,downstream_gene_variant,,ENST00000375329,;APOA1,downstream_gene_variant,,ENST00000236850,;APOC3,downstream_gene_variant,,ENST00000433777,;APOA1,downstream_gene_variant,,ENST00000375320,;APOA1,downstream_gene_variant,,ENST00000359492,;APOA1,downstream_gene_variant,,ENST00000375323,;APOA1-AS,upstream_gene_variant,,ENST00000444200,;APOC3,downstream_gene_variant,,ENST00000470144,;	314	158	169	SUCCESS
PSMA1	5682	.	GRCh37	11	14541864	14541864	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs755995369	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	93	0	ENST00000396394.2:c.-19C>T		p.*7*	ENST00000396394	NM_002786.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31431.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGTTGCG	NONE	byFrequency	.	.	.	.	ENSP00000414359	.	.	.	.	.	.	.	.	.	.	rs755995369	.	nonpreferredpair	ENST00000418988	Transcript	.	.	ENSG00000129084	9530	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSA1_HUMAN	PSMA1	HGNC	F5GX11_HUMAN	.	UPI000002B1AC	SNV	PSMA1,5_prime_UTR_variant,,ENST00000532256,;PSMA1,5_prime_UTR_variant,,ENST00000530457,;PSMA1,5_prime_UTR_variant,,ENST00000533068,;PSMA1,5_prime_UTR_variant,,ENST00000419365,;PSMA1,5_prime_UTR_variant,,ENST00000396394,;PSMA1,intron_variant,,ENST00000418988,;PSMA1,upstream_gene_variant,,ENST00000396393,;PSMA1,5_prime_UTR_variant,,ENST00000555531,;PSMA1,non_coding_transcript_exon_variant,,ENST00000531156,;PSMA1,non_coding_transcript_exon_variant,,ENST00000528307,;PSMA1,non_coding_transcript_exon_variant,,ENST00000533331,;PSMA1,upstream_gene_variant,,ENST00000529524,;PSMA1,upstream_gene_variant,,ENST00000526443,;	.	93	121	SUCCESS
PIK3C2A	5286	.	GRCh37	11	17141377	17141377	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	71	0	ENST00000265970.7:c.2802G>A	p.Trp934Ter	p.W934*	ENST00000265970	NM_002645.2	934	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7824.1	2802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCCACTG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00145,Gene3D:1.25.40.70,Pfam_domain:PF00613,hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048,PROSITE_profiles:PS51545	.	.	ENSP00000265970	.	15/32	.	.	.	.	.	.	.	.	.	15/32	nonpreferredpair	ENST00000265970	Transcript	.	.	ENSG00000011405	8971	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P3C2A_HUMAN	PIK3C2A	HGNC	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN	.	UPI000013D6B3	SNV	PIK3C2A,stop_gained,p.Trp554Ter,ENST00000540361,;PIK3C2A,stop_gained,p.Trp934Ter,ENST00000265970,;RNU6-593P,upstream_gene_variant,,ENST00000364716,;PIK3C2A,intron_variant,,ENST00000531428,;	2802	71	101	SUCCESS
SLC22A18AS	5003	.	GRCh37	11	2920824	2920824	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1564940335	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	61	1	ENST00000533594.1:c.108G>C	p.Arg36Ser	p.R36S	ENST00000533594	NM_007105.2	36	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS7739.1	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTCCTCTG	NONE	.	.	.	.	.	ENSP00000433282	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000533594	Transcript	.	.	ENSG00000254827	10965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	BWR1B_HUMAN	SLC22A18AS	HGNC	.	.	UPI000013FBB8	SNV	SLC22A18AS,missense_variant,p.Arg36Ser,ENST00000533594,;SLC22A18AS,intron_variant,,ENST00000455942,;SLC22A18,upstream_gene_variant,,ENST00000347936,;SLC22A18,upstream_gene_variant,,ENST00000449793,;SLC22A18,upstream_gene_variant,,ENST00000380574,;SLC22A18,upstream_gene_variant,,ENST00000485423,;SLC22A18,upstream_gene_variant,,ENST00000312221,;SLC22A18,upstream_gene_variant,,ENST00000492567,;	605	62	61	SUCCESS
CAPRIN1	4076	.	GRCh37	11	34101204	34101204	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484946756	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	54	0	ENST00000341394.4:c.718G>A	p.Val240Ile	p.V240I	ENST00000341394	NM_005898.4	240	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS31453.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTGTTTTT	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3	.	.	ENSP00000340329	.	7/19	.	.	.	.	.	.	.	.	.	7/19	nonpreferredpair	ENST00000341394	Transcript	.	.	ENSG00000135387	6743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.38)	.	CAPR1_HUMAN	CAPRIN1	HGNC	G3V153_HUMAN,E9PLA9_HUMAN	.	UPI0000251DB5	SNV	CAPRIN1,missense_variant,p.Val240Ile,ENST00000532820,;CAPRIN1,missense_variant,p.Val240Ile,ENST00000389645,;CAPRIN1,missense_variant,p.Val240Ile,ENST00000530820,;CAPRIN1,missense_variant,p.Val240Ile,ENST00000341394,;CAPRIN1,missense_variant,p.Val159Ile,ENST00000529307,;CAPRIN1,downstream_gene_variant,,ENST00000534825,;CAPRIN1,intron_variant,,ENST00000528856,;CAPRIN1,downstream_gene_variant,,ENST00000530008,;CAPRIN1,downstream_gene_variant,,ENST00000534042,;CAPRIN1,downstream_gene_variant,,ENST00000533641,;CAPRIN1,downstream_gene_variant,,ENST00000526494,;	907	54	68	SUCCESS
ACCSL	390110	.	GRCh37	11	44073229	44073229	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	9	144	0	ENST00000378832.1:c.732T>A	p.Ser244=	p.S244=	ENST00000378832	NM_001031854.2	244	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS41636.1	732	MUTECT|MUSE	.	TGCTCTGTCTT	NONE	.	.	hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00753	.	.	ENSP00000368109	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000378832	Transcript	.	.	ENSG00000205126	34391	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	1A1L2_HUMAN	ACCSL	HGNC	.	.	UPI000023785D	SNV	ACCSL,synonymous_variant,p.%3D,ENST00000378832,;ACCSL,3_prime_UTR_variant,,ENST00000527145,;	788	144	207	SUCCESS
SPI1	6688	.	GRCh37	11	47381502	47381502	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772416102	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	25	0	ENST00000378538.3:c.232C>A	p.Pro78Thr	p.P78T	ENST00000378538	NM_003120.2	78	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS44591.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGCTGCA	NONE	.	.	hmmpanther:PTHR11849:SF16,hmmpanther:PTHR11849,Low_complexity_(Seg):seg	.	.	ENSP00000227163	.	3/5	.	.	.	.	.	.	.	.	rs772416102	3/5	nonpreferredpair	ENST00000227163	Transcript	.	.	ENSG00000066336	11241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	tolerated(0.08)	.	SPI1_HUMAN	SPI1	HGNC	.	.	UPI0000D4ECF1	SNV	SPI1,missense_variant,p.Pro78Thr,ENST00000378538,;SPI1,missense_variant,p.Pro79Thr,ENST00000227163,;SPI1,missense_variant,p.Pro78Thr,ENST00000533968,;SPI1,intron_variant,,ENST00000533030,;	273	25	22	SUCCESS
LRRC55	219527	.	GRCh37	11	56949336	56949336	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs762848120	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	20	0	ENST00000497933.1:c.-32G>T		p.*11*	ENST00000497933	NM_001005210.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31539.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGCTCCT	NONE	byFrequency	.	.	.	.	ENSP00000419542	.	1/2	.	.	.	.	.	.	.	.	rs762848120	1/2	nonpreferredpair	ENST00000497933	Transcript	.	.	ENSG00000183908	32324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC55_HUMAN	LRRC55	HGNC	.	.	UPI00001C0E6F	SNV	LRRC55,5_prime_UTR_variant,,ENST00000497933,;	116	20	19	SUCCESS
EML3	256364	.	GRCh37	11	62376466	62376466	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	80	0	ENST00000394773.2:c.897A>G	p.Arg299=	p.R299=	ENST00000394773	NM_153265.2	299	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS8023.2	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGTCTCTG	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF15,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000378254	.	7/22	.	.	.	.	.	.	.	.	.	7/22	nonpreferredpair	ENST00000394773	Transcript	.	.	ENSG00000149499	26666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMAL3_HUMAN	EML3	HGNC	G3V195_HUMAN,E9PJV5_HUMAN,C9J6V3_HUMAN	.	UPI0000228E33	SNV	EML3,synonymous_variant,p.%3D,ENST00000278845,;EML3,synonymous_variant,p.%3D,ENST00000494176,;EML3,synonymous_variant,p.%3D,ENST00000394773,;EML3,synonymous_variant,p.%3D,ENST00000394776,;EML3,synonymous_variant,p.%3D,ENST00000529309,;EML3,synonymous_variant,p.%3D,ENST00000531557,;ROM1,upstream_gene_variant,,ENST00000278833,;ROM1,upstream_gene_variant,,ENST00000525801,;EML3,downstream_gene_variant,,ENST00000419857,;ROM1,upstream_gene_variant,,ENST00000534093,;EML3,downstream_gene_variant,,ENST00000466671,;ROM1,upstream_gene_variant,,ENST00000525947,;EML3,downstream_gene_variant,,ENST00000466886,;RP11-831H9.3,downstream_gene_variant,,ENST00000532626,;EML3,upstream_gene_variant,,ENST00000438258,;ROM1,upstream_gene_variant,,ENST00000529273,;EML3,3_prime_UTR_variant,,ENST00000494448,;EML3,upstream_gene_variant,,ENST00000460939,;EML3,upstream_gene_variant,,ENST00000526116,;EML3,upstream_gene_variant,,ENST00000462626,;EML3,upstream_gene_variant,,ENST00000483199,;EML3,upstream_gene_variant,,ENST00000533165,;EML3,upstream_gene_variant,,ENST00000524518,;	1205	80	122	SUCCESS
SLC22A8	9376	.	GRCh37	11	62768191	62768191	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	114	0	ENST00000336232.2:c.437+1G>T		p.X146_splice	ENST00000336232	NM_001184736.1	146		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8042.1	.	MUTECT|MUSE	.	TCTCACCTGTC	NONE	.	.	.	.	.	ENSP00000337335	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	HIGH	3/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,splice_donor_variant,,ENST00000535878,;SLC22A8,splice_donor_variant,,ENST00000336232,;SLC22A8,splice_donor_variant,,ENST00000430500,;SLC22A8,splice_donor_variant,,ENST00000311438,;SLC22A8,splice_donor_variant,,ENST00000545207,;SLC22A8,splice_donor_variant,,ENST00000542795,;SLC22A8,splice_donor_variant,,ENST00000542904,;SLC22A8,upstream_gene_variant,,ENST00000539841,;	.	114	162	SUCCESS
DNHD1	144132	.	GRCh37	11	6566625	6566625	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	44	160	0	ENST00000254579.6:c.4456A>G	p.Lys1486Glu	p.K1486E	ENST00000254579	NM_144666.2	1486	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS44532.1	4456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAAGCAA	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	21/43	.	.	.	.	.	.	.	.	.	21/43	nonpreferredpair	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Lys1486Glu,ENST00000527990,;DNHD1,missense_variant,p.Lys1486Glu,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000533649,;	5020	160	169	SUCCESS
DCHS1	8642	.	GRCh37	11	6651029	6651029	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761516066	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	38	0	ENST00000299441.3:c.4909G>A	p.Val1637Ile	p.V1637I	ENST00000299441	NM_003737.2	1637	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS7771.1	4909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACGGTCA	NONE	.	.	Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	11/21	.	.	.	.	.	.	.	.	rs761516066	11/21	nonpreferredpair	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.07)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Val1637Ile,ENST00000299441,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	5321	38	37	SUCCESS
SPCS2	9789	.	GRCh37	11	74676881	74676881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	56	1	ENST00000263672.6:c.272C>A	p.Ser91Tyr	p.S91Y	ENST00000263672	NM_014752.2	91	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44681.1	272	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCCTGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13085:SF0,hmmpanther:PTHR13085,Pfam_domain:PF06703	.	.	ENSP00000263672	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000263672	Transcript	.	.	ENSG00000118363	28962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SPCS2_HUMAN	SPCS2	HGNC	.	.	UPI0000135D6A	SNV	SPCS2,missense_variant,p.Ser95Tyr,ENST00000526883,;SPCS2,missense_variant,p.Ser122Tyr,ENST00000532972,;SPCS2,missense_variant,p.Ser91Tyr,ENST00000263672,;SPCS2,intron_variant,,ENST00000526361,;SPCS2,intron_variant,,ENST00000530257,;RNU6-216P,downstream_gene_variant,,ENST00000363282,;SPCS2,intron_variant,,ENST00000527225,;SPCS2,intron_variant,,ENST00000528265,;SPCS2,downstream_gene_variant,,ENST00000527290,;	311	57	46	SUCCESS
TAS2R10	50839	.	GRCh37	12	10978297	10978297	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	46	0	ENST00000240619.2:c.572T>G	p.Ile191Ser	p.I191S	ENST00000240619	NM_023921.1	191	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS8634.1	572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTAATTAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF26,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000240619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000240619	Transcript	.	.	ENSG00000121318	14918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	deleterious(0)	.	T2R10_HUMAN	TAS2R10	HGNC	Q50KS2_HUMAN	.	UPI0000038B12	SNV	TAS2R10,missense_variant,p.Ile191Ser,ENST00000240619,;PRR4,intron_variant,,ENST00000538332,;	661	46	33	SUCCESS
GPR19	2842	.	GRCh37	12	12815347	12815347	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	39	0	ENST00000332427.2:c.36A>G	p.Pro12=	p.P12=	ENST00000332427	NM_006143.2	12	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS8652.1	36	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTGGCTT	NONE	.	.	.	.	.	ENSP00000441832	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000540510	Transcript	.	.	ENSG00000183150	4473	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPR19_HUMAN	GPR19	HGNC	F5GWU2_HUMAN	.	UPI000013CAB3	SNV	GPR19,synonymous_variant,p.%3D,ENST00000332427,;GPR19,synonymous_variant,p.%3D,ENST00000540796,;GPR19,synonymous_variant,p.%3D,ENST00000540510,;	229	39	58	SUCCESS
GPR133	0	.	GRCh37	12	131622709	131622709	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	13	76	0	ENST00000261654.5:c.2464A>G	p.Lys822Glu	p.K822E	ENST00000261654	NM_198827.3	822	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9272.1	2464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAAGGTC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216,Superfamily_domains:SSF81321	.	.	ENSP00000261654	.	24/25	.	.	.	.	.	.	.	.	.	24/25	nonpreferredpair	ENST00000261654	Transcript	.	.	ENSG00000111452	19893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	GP133_HUMAN	GPR133	HGNC	F5H4Y0_HUMAN,B2CKK9_HUMAN	.	UPI0000241C7A	SNV	GPR133,missense_variant,p.Lys341Glu,ENST00000543617,;GPR133,missense_variant,p.Lys508Glu,ENST00000376682,;GPR133,missense_variant,p.Lys854Glu,ENST00000535015,;GPR133,missense_variant,p.Lys822Glu,ENST00000261654,;GPR133,missense_variant,p.Lys176Glu,ENST00000335486,;GPR133,non_coding_transcript_exon_variant,,ENST00000540207,;GPR133,non_coding_transcript_exon_variant,,ENST00000446583,;GPR133,downstream_gene_variant,,ENST00000537489,;	3023	76	80	SUCCESS
CCDC91	55297	.	GRCh37	12	28459739	28459739	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	52	0	ENST00000381259.1:c.332A>G	p.Lys111Arg	p.K111R	ENST00000381259	NM_018318.3	111	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS8716.1	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAAAAGTA	NONE	.	.	.	.	.	ENSP00000438040	.	8/16	.	.	.	.	.	.	.	.	.	8/16	nonpreferredpair	ENST00000545336	Transcript	.	.	ENSG00000123106	24855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.4)	.	CCD91_HUMAN	CCDC91	HGNC	F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN	.	UPI00001AEE23	SNV	CCDC91,missense_variant,p.Lys111Arg,ENST00000381256,;CCDC91,missense_variant,p.Lys111Arg,ENST00000545336,;CCDC91,missense_variant,p.Lys81Arg,ENST00000306172,;CCDC91,missense_variant,p.Lys111Arg,ENST00000381259,;CCDC91,missense_variant,p.Lys111Arg,ENST00000539107,;CCDC91,intron_variant,,ENST00000536154,;CCDC91,intron_variant,,ENST00000540794,;CCDC91,downstream_gene_variant,,ENST00000538586,;CCDC91,downstream_gene_variant,,ENST00000543534,;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,;CCDC91,non_coding_transcript_exon_variant,,ENST00000544649,;CCDC91,non_coding_transcript_exon_variant,,ENST00000539904,;CCDC91,missense_variant,p.Lys111Arg,ENST00000536442,;CCDC91,missense_variant,p.Lys111Arg,ENST00000545737,;CCDC91,missense_variant,p.Lys111Arg,ENST00000543809,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;	751	52	66	SUCCESS
CAPRIN2	65981	.	GRCh37	12	30863308	30863308	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	14	101	1	ENST00000298892.5:c.2762C>T	p.Thr921Ile	p.T921I	ENST00000298892	NM_023925.3	921	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS8720.1	2762	MUTECT|VARSCANS	.	CAGGGGTCATG	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5	.	.	ENSP00000298892	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000298892	Transcript	.	.	ENSG00000110888	21259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CAPR2_HUMAN	CAPRIN2	HGNC	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN	.	UPI000007080A	SNV	CAPRIN2,missense_variant,p.Thr637Ile,ENST00000308433,;CAPRIN2,missense_variant,p.Thr971Ile,ENST00000251071,;CAPRIN2,missense_variant,p.Thr921Ile,ENST00000298892,;CAPRIN2,3_prime_UTR_variant,,ENST00000433722,;CAPRIN2,3_prime_UTR_variant,,ENST00000395805,;CAPRIN2,3_prime_UTR_variant,,ENST00000417045,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;	3513	102	146	SUCCESS
GALNT6	11226	.	GRCh37	12	51758078	51758078	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	55	150	0	ENST00000356317.3:c.876G>A	p.Val292=	p.V292=	ENST00000356317	NM_007210.3	292	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8813.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCACTGT	NONE	.	.	hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	.	ENSP00000444171	.	5/11	.	.	.	.	.	.	.	.	.	5/11	nonpreferredpair	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,synonymous_variant,p.%3D,ENST00000543196,;GALNT6,synonymous_variant,p.%3D,ENST00000356317,;GALNT6,synonymous_variant,p.%3D,ENST00000603641,;GALNT6,upstream_gene_variant,,ENST00000603680,;	1082	150	188	SUCCESS
KRT3	3850	.	GRCh37	12	53189359	53189359	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	57	105	0	ENST00000417996.2:c.468C>T	p.Gly156=	p.G156=	ENST00000417996	NM_057088.2	156	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS44895.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTGCCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF140,hmmpanther:PTHR23239	.	.	ENSP00000413479	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000417996	Transcript	.	.	ENSG00000186442	6440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C3_HUMAN	KRT3	HGNC	.	.	UPI000013EEC8	SNV	KRT3,synonymous_variant,p.%3D,ENST00000309505,;KRT3,synonymous_variant,p.%3D,ENST00000417996,;	543	105	150	SUCCESS
ZC3H10	84872	.	GRCh37	12	56515237	56515237	+	synonymous_variant	Silent	SNP	C	C	T	rs1246515674	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	70	0	ENST00000257940.2:c.891C>T	p.Pro297=	p.P297=	ENST00000257940	NM_032786.1	297	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8903.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCACTGT	NONE	.	.	hmmpanther:PTHR12675	.	.	ENSP00000257940	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000257940	Transcript	.	.	ENSG00000135482	25893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3HA_HUMAN	ZC3H10	HGNC	F8VYY3_HUMAN,F8VSG0_HUMAN,F8VQT2_HUMAN	.	UPI0000070771	SNV	ZC3H10,synonymous_variant,p.%3D,ENST00000257940,;ESYT1,intron_variant,,ENST00000551790,;ZC3H10,downstream_gene_variant,,ENST00000551880,;RPL41,downstream_gene_variant,,ENST00000546591,;ZC3H10,downstream_gene_variant,,ENST00000546903,;RPL41,downstream_gene_variant,,ENST00000501597,;ZC3H10,downstream_gene_variant,,ENST00000552345,;RP11-603J24.5,intron_variant,,ENST00000549438,;RP11-603J24.5,intron_variant,,ENST00000550947,;RP11-603J24.6,upstream_gene_variant,,ENST00000550840,;RPL41,downstream_gene_variant,,ENST00000546654,;ZC3H10,downstream_gene_variant,,ENST00000549973,;RPL41,downstream_gene_variant,,ENST00000546485,;RPL41,downstream_gene_variant,,ENST00000552314,;RPL41,downstream_gene_variant,,ENST00000358888,;	1167	70	79	SUCCESS
PTPRB	5787	.	GRCh37	12	70988332	70988332	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	70	210	0	ENST00000261266.5:c.777G>A	p.Gly259=	p.G259=	ENST00000261266	NM_002837.4	259	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44943.1	1431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCCCGTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	6/34	.	.	.	.	.	.	.	.	.	6/34	nonpreferredpair	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	1476	210	262	SUCCESS
PHC1	1911	.	GRCh37	12	9070234	9070234	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	12	101	0	ENST00000543824.1:c.-40T>A		p.*14*	ENST00000543824				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8597.1	.	MUTECT|MUSE	.	TTGAGTCAGAC	NONE	.	.	.	.	.	ENSP00000440674	.	3/16	.	.	.	.	.	.	.	.	.	3/16	nonpreferredpair	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,5_prime_UTR_variant,,ENST00000539063,;PHC1,5_prime_UTR_variant,,ENST00000543824,;PHC1,5_prime_UTR_variant,,ENST00000536844,;PHC1,5_prime_UTR_variant,,ENST00000538657,;PHC1,5_prime_UTR_variant,,ENST00000433083,;PHC1,5_prime_UTR_variant,,ENST00000544539,;PHC1,5_prime_UTR_variant,,ENST00000544916,;PHC1,upstream_gene_variant,,ENST00000541181,;PHC1,non_coding_transcript_exon_variant,,ENST00000433847,;PHC1,5_prime_UTR_variant,,ENST00000540574,;	293	101	122	SUCCESS
UPF3A	65110	.	GRCh37	13	115052106	115052106	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	17	148	0	ENST00000375299.3:c.631+2T>C		p.X211_splice	ENST00000375299	NM_023011.3	211		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9543.1	.	MUTECT|MUSE|VARSCANS	.	ATTGGTCTGTT	NONE	.	.	.	.	.	ENSP00000364448	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000375299	Transcript	.	.	ENSG00000169062	20332	.	.	HIGH	5/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REN3A_HUMAN	UPF3A	HGNC	B3KUE7_HUMAN	.	UPI0000072FCB	SNV	UPF3A,splice_donor_variant,,ENST00000351487,;UPF3A,splice_donor_variant,,ENST00000375299,;UPF3A,splice_donor_variant,,ENST00000493727,;UPF3A,splice_donor_variant,,ENST00000484246,;UPF3A,splice_donor_variant,,ENST00000480362,;UPF3A,splice_donor_variant,,ENST00000475218,;UPF3A,splice_donor_variant,,ENST00000481131,;UPF3A,splice_donor_variant,,ENST00000479712,;UPF3A,intron_variant,,ENST00000474056,;UPF3A,downstream_gene_variant,,ENST00000492270,;	.	148	194	SUCCESS
ATP8A2	51761	.	GRCh37	13	26586735	26586735	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	32	29	0	ENST00000381655.2:c.3444C>A	p.Gly1148=	p.G1148=	ENST00000381655	NM_016529.4	1148	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41873.1	3444	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCAGCTC	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092	.	.	ENSP00000371070	.	36/37	.	.	.	.	.	.	.	.	.	36/37	nonpreferredpair	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,synonymous_variant,p.%3D,ENST00000255283,;ATP8A2,synonymous_variant,p.%3D,ENST00000381655,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	3586	29	55	SUCCESS
TEX26	122046	.	GRCh37	13	31549019	31549019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	57	1	ENST00000380473.3:c.845G>A	p.Cys282Tyr	p.C282Y	ENST00000380473	NM_152325.1	282	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS9339.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGTGACA	NONE	.	.	.	.	.	ENSP00000369840	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000380473	Transcript	.	.	ENSG00000175664	28622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.23)	.	TEX26_HUMAN	TEX26	HGNC	.	.	UPI0000070D41	SNV	TEX26,missense_variant,p.Cys282Tyr,ENST00000380473,;RP11-252M21.6,non_coding_transcript_exon_variant,,ENST00000433788,;TEX26,non_coding_transcript_exon_variant,,ENST00000530916,;TEX26,3_prime_UTR_variant,,ENST00000531960,;	858	58	91	SUCCESS
KBTBD7	84078	.	GRCh37	13	41766715	41766715	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754279461	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	48	125	0	ENST00000379483.3:c.1679A>G	p.Gln560Arg	p.Q560R	ENST00000379483	NM_032138.4	560	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9377.1	1679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCTGGTAG	NONE	.	.	hmmpanther:PTHR24412:SF132,hmmpanther:PTHR24412,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000368797	.	1/1	.	.	.	.	.	.	.	.	rs754279461	1/1	nonpreferredpair	ENST00000379483	Transcript	.	.	ENSG00000120696	25266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.73)	.	KBTB7_HUMAN	KBTBD7	HGNC	B4DS80_HUMAN	.	UPI0000071F8F	SNV	KBTBD7,missense_variant,p.Gln560Arg,ENST00000379483,;	1988	125	177	SUCCESS
DGKH	160851	.	GRCh37	13	42763420	42763420	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768501002	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	62	0	ENST00000337343.4:c.1887G>T	p.Arg629Ser	p.R629S	ENST00000337343	NM_178009.3	629	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS9381.1	1887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGCAAGT	NONE	.	.	hmmpanther:PTHR11255:SF37,hmmpanther:PTHR11255	.	.	ENSP00000337572	.	15/30	.	.	.	.	.	.	.	.	rs768501002	15/30	nonpreferredpair	ENST00000337343	Transcript	.	.	ENSG00000102780	2854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	DGKH_HUMAN	DGKH	HGNC	.	.	UPI000017DA47	SNV	DGKH,missense_variant,p.Arg493Ser,ENST00000536612,;DGKH,missense_variant,p.Arg493Ser,ENST00000379274,;DGKH,missense_variant,p.Arg629Ser,ENST00000261491,;DGKH,missense_variant,p.Arg384Ser,ENST00000538674,;DGKH,missense_variant,p.Arg629Ser,ENST00000540693,;DGKH,missense_variant,p.Arg629Ser,ENST00000337343,;DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;	1908	62	108	SUCCESS
NUFIP1	26747	.	GRCh37	13	45563368	45563368	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs765016323	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	30	0	ENST00000379161.4:c.204del	p.Met69TrpfsTer134	p.M69Wfs*134	ENST00000379161	NM_012345.2	68	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS9393.1	204	INDELOCATOR|VARSCANI	.	CTCCATGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR13309	.	.	ENSP00000368459	.	1/10	.	.	.	.	.	.	.	.	rs752198049,rs765016323	1/10	nonpreferredpair	ENST00000379161	Transcript	.	.	ENSG00000083635	8057	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUFP1_HUMAN	NUFIP1	HGNC	.	.	UPI000013C768	deletion	NUFIP1,frameshift_variant,p.Met69TrpfsTer134,ENST00000379161,;GPALPP1,upstream_gene_variant,,ENST00000379151,;GPALPP1,upstream_gene_variant,,ENST00000361121,;RP11-321C24.1,intron_variant,,ENST00000437748,;GPALPP1,upstream_gene_variant,,ENST00000479068,;GPALPP1,upstream_gene_variant,,ENST00000497558,;	251	30	36	SUCCESS
IGHV1-2	28474	.	GRCh37	14	106452843	106452843	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782168173	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	402	208	456	0	ENST00000390594.2:c.179C>A	p.Pro60His	p.P60H	ENST00000390594		60	cCt/cAt	0	.	.	.	.	.	T	P/H	IG_V_gene	YES	.	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGGGGCC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375003	.	2/2	.	.	.	.	.	.	.	.	rs782168173	2/2	nonpreferredpair	ENST00000390594	Transcript	.	.	ENSG00000211934	5550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.07)	.	.	IGHV1-2	HGNC	.	.	UPI0000115F95	SNV	IGHV1-2,missense_variant,p.Pro60His,ENST00000390594,;	243	456	610	SUCCESS
RNF31	55072	.	GRCh37	14	24618693	24618693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	104	0	ENST00000324103.6:c.710G>T	p.Cys237Phe	p.C237F	ENST00000324103	NM_017999.4	237	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS41931.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGTCCAG	NONE	.	.	hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1	.	.	ENSP00000315112	.	6/21	.	.	.	.	.	.	.	.	.	6/21	nonpreferredpair	ENST00000324103	Transcript	.	.	ENSG00000092098	16031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RNF31_HUMAN	RNF31	HGNC	H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN	.	UPI0000072F93	SNV	RNF31,missense_variant,p.Cys52Phe,ENST00000559533,;RNF31,missense_variant,p.Cys138Phe,ENST00000560787,;RNF31,missense_variant,p.Cys52Phe,ENST00000560071,;RNF31,missense_variant,p.Cys237Phe,ENST00000324103,;RNF31,missense_variant,p.Cys86Phe,ENST00000382687,;RNF31,missense_variant,p.Cys52Phe,ENST00000559308,;RNF31,missense_variant,p.Cys86Phe,ENST00000559275,;RNF31,downstream_gene_variant,,ENST00000557991,;PSME2,upstream_gene_variant,,ENST00000216802,;PSME2,upstream_gene_variant,,ENST00000559056,;RNF31,downstream_gene_variant,,ENST00000560875,;PSME2,upstream_gene_variant,,ENST00000560410,;RNF31,downstream_gene_variant,,ENST00000559260,;RNF31,non_coding_transcript_exon_variant,,ENST00000559583,;PSME2,upstream_gene_variant,,ENST00000471700,;PSME2,upstream_gene_variant,,ENST00000559613,;RNF31,downstream_gene_variant,,ENST00000558634,;RNF31,downstream_gene_variant,,ENST00000559438,;PSME2,upstream_gene_variant,,ENST00000561103,;RNF31,downstream_gene_variant,,ENST00000559882,;RNF31,downstream_gene_variant,,ENST00000557878,;RNF31,synonymous_variant,p.%3D,ENST00000558907,;RNF31,intron_variant,,ENST00000491351,;PSME2,upstream_gene_variant,,ENST00000560370,;PSME2,upstream_gene_variant,,ENST00000560788,;PSME2,upstream_gene_variant,,ENST00000559359,;PSME2,upstream_gene_variant,,ENST00000558273,;RP11-468E2.4,upstream_gene_variant,,ENST00000558468,;RNF31,upstream_gene_variant,,ENST00000559071,;PSME2,upstream_gene_variant,,ENST00000559453,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000558931,;RNF31,downstream_gene_variant,,ENST00000560342,;PSME2,upstream_gene_variant,,ENST00000560592,;	1030	104	136	SUCCESS
GPR135	64582	.	GRCh37	14	59930690	59930690	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	56	0	ENST00000395116.1:c.1255G>T	p.Gly419Cys	p.G419C	ENST00000395116	NM_022571.5	419	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9738.1	1255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCCCTGGC	NONE	.	.	hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752	.	.	ENSP00000378548	.	1/1	.	.	.	.	.	.	.	.	COSM401487	1/1	nonpreferredpair	ENST00000395116	Transcript	.	.	ENSG00000181619	19991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.885)	.	deleterious(0.02)	1	GP135_HUMAN	GPR135	HGNC	.	.	UPI0000046D5B	SNV	GPR135,missense_variant,p.Gly419Cys,ENST00000395116,;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Gly419Cys,ENST00000481661,;	1371	56	75	SUCCESS
SYNE2	23224	.	GRCh37	14	64457170	64457170	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	15	82	0	ENST00000344113.4:c.2355A>G	p.Ala785=	p.A785=	ENST00000344113	NM_015180.4	785	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9761.2	2355	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCAAGAAG	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	20/116	.	.	.	.	.	.	.	.	.	20/116	nonpreferredpair	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;	2585	82	130	SUCCESS
SNRPN	6638	.	GRCh37	15	25221503	25221503	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	7	83	0	ENST00000346403.6:c.207G>T	p.Leu69=	p.L69=	ENST00000346403		69	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10017.1	207	MUTECT|MUSE	.	GGTCTGGTGTT	NONE	.	.	hmmpanther:PTHR10701:SF1,hmmpanther:PTHR10701,Pfam_domain:PF01423,Gene3D:2.30.30.100,PIRSF_domain:PIRSF037187,SMART_domains:SM00651,Superfamily_domains:SSF50182	.	.	ENSP00000382972	.	9/13	.	.	.	.	.	.	.	.	COSM371311	9/13	nonpreferredpair	ENST00000400100	Transcript	1	.	ENSG00000128739	11164	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	RSMN_HUMAN	SNRPN	HGNC	Q9UKR4_HUMAN,Q6LBS1_HUMAN,J3QLE5_HUMAN,J3KRY3_HUMAN	.	UPI000002948A	SNV	SNRPN,synonymous_variant,p.%3D,ENST00000400100,;SNRPN,synonymous_variant,p.%3D,ENST00000400098,;SNRPN,synonymous_variant,p.%3D,ENST00000400097,;SNRPN,synonymous_variant,p.%3D,ENST00000554227,;SNRPN,synonymous_variant,p.%3D,ENST00000390687,;SNRPN,synonymous_variant,p.%3D,ENST00000579070,;SNRPN,synonymous_variant,p.%3D,ENST00000444203,;SNRPN,synonymous_variant,p.%3D,ENST00000577565,;SNRPN,synonymous_variant,p.%3D,ENST00000346403,;SNURF,3_prime_UTR_variant,,ENST00000338094,;SNRPN,downstream_gene_variant,,ENST00000584968,;SNHG14,upstream_gene_variant,,ENST00000551631,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,3_prime_UTR_variant,,ENST00000580062,;SNURF,intron_variant,,ENST00000551312,;SNURF,intron_variant,,ENST00000557230,;SNHG14,upstream_gene_variant,,ENST00000557108,;	1097	83	140	SUCCESS
RYR3	6263	.	GRCh37	15	33855053	33855053	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	52	0	ENST00000389232.4:c.988T>A	p.Leu330Ile	p.L330I	ENST00000389232	NM_001036.3	330	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS45210.1	988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATTAGAC	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000373884	.	11/104	.	.	.	.	.	.	.	.	.	11/104	nonpreferredpair	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Leu330Ile,ENST00000389232,;RYR3,missense_variant,p.Leu330Ile,ENST00000415757,;	1058	52	92	SUCCESS
SLC12A1	6557	.	GRCh37	15	48533795	48533795	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	52	84	1	ENST00000380993.3:c.1299A>G		p.X433_splice	ENST00000380993	NM_000338.2	433	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS53940.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTAGGTAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000379822	.	10/27	.	.	.	.	.	.	.	.	.	10/27	nonpreferredpair	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,synonymous_variant,p.%3D,ENST00000558405,;SLC12A1,synonymous_variant,p.%3D,ENST00000396577,;SLC12A1,synonymous_variant,p.%3D,ENST00000559641,;SLC12A1,synonymous_variant,p.%3D,ENST00000380993,;SLC12A1,downstream_gene_variant,,ENST00000330289,;SLC12A1,splice_region_variant,,ENST00000560692,;SLC12A1,splice_region_variant,,ENST00000558252,;	1514	85	147	SUCCESS
SHC4	399694	.	GRCh37	15	49254841	49254841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	44	0	ENST00000332408.4:c.372C>A	p.Asp124Glu	p.D124E	ENST00000332408	NM_203349.3	124	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS10130.1	372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGTCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12	.	.	ENSP00000329668	.	1/12	.	.	.	.	.	.	.	.	.	1/12	nonpreferredpair	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.85)	.	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,missense_variant,p.Asp124Glu,ENST00000332408,;	801	44	86	SUCCESS
PTPN9	5780	.	GRCh37	15	75782644	75782644	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	78	0	ENST00000306726.2:c.969-2A>T		p.X323_splice	ENST00000306726	NM_002833.2	323		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10280.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTGAAGG	NONE	.	.	.	.	.	ENSP00000303554	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000306726	Transcript	.	.	ENSG00000169410	9661	.	.	HIGH	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN9_HUMAN	PTPN9	HGNC	.	.	UPI0000000CAC	SNV	PTPN9,splice_acceptor_variant,,ENST00000306726,;PTPN9,splice_acceptor_variant,,ENST00000564970,;	.	78	104	SUCCESS
SCAPER	49855	.	GRCh37	15	76994169	76994169	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	54	1	ENST00000324767.7:c.2438G>C	p.Gly813Ala	p.G813A	ENST00000324767	NM_020843.2	813	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS53962.1	2438	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTCTCCCTTTA	NONE	.	.	hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2,Pfam_domain:PF12874,SMART_domains:SM00451,Superfamily_domains:SSF57667	.	.	ENSP00000454973	.	20/32	.	.	.	.	.	.	.	.	.	20/32	nonpreferredpair	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.563)	.	deleterious(0.03)	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Gly813Ala,ENST00000324767,;SCAPER,missense_variant,p.Gly567Ala,ENST00000538941,;SCAPER,missense_variant,p.Gly813Ala,ENST00000563290,;SCAPER,downstream_gene_variant,,ENST00000564590,;SCAPER,downstream_gene_variant,,ENST00000565970,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;SCAPER,downstream_gene_variant,,ENST00000565507,;	2534	55	53	SUCCESS
RASGRF1	5923	.	GRCh37	15	79350802	79350802	+	synonymous_variant	Silent	SNP	C	C	T	rs763522325	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	42	109	0	ENST00000419573.3:c.405G>A	p.Glu135=	p.E135=	ENST00000419573	NM_002891.4	135	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS10309.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGCTCTGT	NONE	.	.	hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113	.	.	ENSP00000405963	.	3/28	.	.	.	.	.	.	.	.	rs763522325	3/28	nonpreferredpair	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,synonymous_variant,p.%3D,ENST00000558480,;RASGRF1,synonymous_variant,p.%3D,ENST00000419573,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	680	109	141	SUCCESS
AP3B2	8120	.	GRCh37	15	83357541	83357541	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	29	103	0	ENST00000261722.3:c.307G>C	p.Glu103Gln	p.E103Q	ENST00000261722	NM_004644.4	103	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS45331.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCTCAG	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371	.	.	ENSP00000261722	.	4/26	.	.	.	.	.	.	.	.	.	4/26	nonpreferredpair	ENST00000261722	Transcript	.	.	ENSG00000103723	567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	tolerated(0.06)	.	AP3B2_HUMAN	AP3B2	HGNC	F5GWU4_HUMAN	.	UPI0000125030	SNV	AP3B2,missense_variant,p.Glu103Gln,ENST00000542200,;AP3B2,missense_variant,p.Glu59Gln,ENST00000541693,;AP3B2,missense_variant,p.Glu103Gln,ENST00000535359,;AP3B2,missense_variant,p.Glu103Gln,ENST00000261722,;AP3B2,intron_variant,,ENST00000535348,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000561455,;AP3B2,downstream_gene_variant,,ENST00000560529,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535385,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535513,;RP11-752G15.4,downstream_gene_variant,,ENST00000560043,;	515	103	161	SUCCESS
ABCC6P1	653190	.	GRCh37	16	18584198	18584198	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	63	0	ENST00000546162.2:n.125-1G>T		p.X42_splice	ENST00000546162		42		0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGGTCTG	NONE	.	1808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000602805	Transcript	.	.	ENSG00000260550	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-457I16.2	Clone_based_vega_gene	.	.	.	SNV	RP11-457I16.2,upstream_gene_variant,,ENST00000602805,;RP11-457I16.2,upstream_gene_variant,,ENST00000561676,;ABCC6P1,splice_acceptor_variant,,ENST00000565118,;ABCC6P1,splice_acceptor_variant,,ENST00000565647,;ABCC6P1,splice_acceptor_variant,,ENST00000546162,;ABCC6P1,splice_acceptor_variant,,ENST00000565566,;ABCC6P1,splice_acceptor_variant,,ENST00000600761,;	.	63	77	SUCCESS
ACSM2A	123876	.	GRCh37	16	20494379	20494379	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	43	156	0	ENST00000219054.6:c.1510-1G>A		p.X504_splice	ENST00000219054		504		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32401.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAGGTGGT	NONE	.	.	.	.	.	ENSP00000459451	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000573854	Transcript	.	.	ENSG00000183747	32017	.	.	HIGH	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACS2A_HUMAN	ACSM2A	HGNC	I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN	.	UPI0000251E27	SNV	ACSM2A,splice_acceptor_variant,,ENST00000575690,;ACSM2A,splice_acceptor_variant,,ENST00000573854,;ACSM2A,splice_acceptor_variant,,ENST00000536134,;ACSM2A,splice_acceptor_variant,,ENST00000219054,;ACSM2A,splice_acceptor_variant,,ENST00000417235,;ACSM2A,splice_acceptor_variant,,ENST00000396104,;AC137056.1,upstream_gene_variant,,ENST00000593357,;ACSM2A,downstream_gene_variant,,ENST00000575558,;ACSM2A,splice_acceptor_variant,,ENST00000572843,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000576119,;ACSM2A,downstream_gene_variant,,ENST00000570698,;ACSM2A,downstream_gene_variant,,ENST00000576101,;	.	156	186	SUCCESS
TNRC6A	27327	.	GRCh37	16	24834929	24834929	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	90	0	ENST00000395799.3:c.5690T>G	p.Leu1897Arg	p.L1897R	ENST00000395799	NM_014494.2	1897	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS10624.2	5690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCTCAATC	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	25/25	.	.	.	.	.	.	.	.	.	25/25	nonpreferredpair	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.11)	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,missense_variant,p.Leu1897Arg,ENST00000395799,;TNRC6A,missense_variant,p.Leu1848Arg,ENST00000315183,;TNRC6A,missense_variant,p.Leu841Arg,ENST00000450465,;TNRC6A,missense_variant,p.Leu375Arg,ENST00000432286,;TNRC6A,intron_variant,,ENST00000569098,;CTD-2515A14.1,upstream_gene_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000464539,;TNRC6A,downstream_gene_variant,,ENST00000569634,;TNRC6A,downstream_gene_variant,,ENST00000569376,;	5819	90	121	SUCCESS
XPO6	23214	.	GRCh37	16	28167815	28167815	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	73	0	ENST00000304658.5:c.677G>A	p.Ser226Asn	p.S226N	ENST00000304658	NM_015171.3	226	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS42135.1	677	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACTGGGA	NONE	.	.	Pfam_domain:PF08389,Gene3D:1.25.10.10,hmmpanther:PTHR21452	.	.	ENSP00000302790	.	7/24	.	.	.	.	.	.	.	.	.	7/24	nonpreferredpair	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.31)	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,missense_variant,p.Ser226Asn,ENST00000304658,;XPO6,missense_variant,p.Ser63Asn,ENST00000574435,;XPO6,missense_variant,p.Ser212Asn,ENST00000565698,;XPO6,non_coding_transcript_exon_variant,,ENST00000573645,;XPO6,non_coding_transcript_exon_variant,,ENST00000569973,;XPO6,upstream_gene_variant,,ENST00000564337,;XPO6,upstream_gene_variant,,ENST00000561488,;XPO6,upstream_gene_variant,,ENST00000566175,;XPO6,upstream_gene_variant,,ENST00000565284,;XPO6,upstream_gene_variant,,ENST00000570294,;	1178	73	85	SUCCESS
TGFB1I1	7041	.	GRCh37	16	31487440	31487440	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1214430699	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	48	0	ENST00000394863.3:c.822C>A	p.Phe274Leu	p.F274L	ENST00000394863	NM_001042454.2	274	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS42156.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCTGCCC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF24,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,PIRSF_domain:PIRSF037881,Superfamily_domains:SSF57716	.	.	ENSP00000378332	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000394863	Transcript	.	.	ENSG00000140682	11767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	deleterious(0.03)	.	TGFI1_HUMAN	TGFB1I1	HGNC	H3BSN4_HUMAN,H3BS04_HUMAN	.	UPI00001FFFA9	SNV	TGFB1I1,missense_variant,p.Phe274Leu,ENST00000394863,;TGFB1I1,missense_variant,p.Phe257Leu,ENST00000361773,;TGFB1I1,missense_variant,p.Phe257Leu,ENST00000394858,;TGFB1I1,missense_variant,p.Phe257Leu,ENST00000567607,;TGFB1I1,downstream_gene_variant,,ENST00000562566,;TGFB1I1,downstream_gene_variant,,ENST00000565454,;TGFB1I1,downstream_gene_variant,,ENST00000565360,;TGFB1I1,3_prime_UTR_variant,,ENST00000563712,;TGFB1I1,3_prime_UTR_variant,,ENST00000567066,;TGFB1I1,3_prime_UTR_variant,,ENST00000564804,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000569703,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000564176,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000568142,;TGFB1I1,downstream_gene_variant,,ENST00000567524,;TGFB1I1,downstream_gene_variant,,ENST00000561785,;TGFB1I1,downstream_gene_variant,,ENST00000562165,;TGFB1I1,downstream_gene_variant,,ENST00000569254,;	952	48	65	SUCCESS
ADCY9	115	.	GRCh37	16	4165358	4165358	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	44	0	ENST00000294016.3:c.86G>A	p.Arg29His	p.R29H	ENST00000294016	NM_001116.3	29	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS32382.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGCGCACG	NONE	.	.	hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	.	.	ENSP00000294016	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000294016	Transcript	.	.	ENSG00000162104	240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.63)	.	tolerated_low_confidence(0.06)	.	ADCY9_HUMAN	ADCY9	HGNC	.	.	UPI000012887F	SNV	ADCY9,missense_variant,p.Arg29His,ENST00000294016,;ADCY9,upstream_gene_variant,,ENST00000572288,;ADCY9,upstream_gene_variant,,ENST00000571467,;	625	44	66	SUCCESS
NUP93	9688	.	GRCh37	16	56868090	56868090	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750107617	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	71	1	ENST00000308159.5:c.1588C>T	p.Arg530Trp	p.R530W	ENST00000308159	NM_014669.4	530	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10769.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGCGGCTC	NONE	byFrequency	.	hmmpanther:PTHR11225,Pfam_domain:PF04097	.	.	ENSP00000310668	.	14/22	.	.	.	.	.	.	.	.	rs750107617	14/22	nonpreferredpair	ENST00000308159	Transcript	.	.	ENSG00000102900	28958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NUP93_HUMAN	NUP93	HGNC	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN	.	UPI0000044E0C	SNV	NUP93,missense_variant,p.Arg407Trp,ENST00000564887,;NUP93,missense_variant,p.Arg407Trp,ENST00000542526,;NUP93,missense_variant,p.Arg530Trp,ENST00000569842,;NUP93,missense_variant,p.Arg530Trp,ENST00000308159,;NUP93,upstream_gene_variant,,ENST00000563486,;NUP93,upstream_gene_variant,,ENST00000569322,;NUP93,downstream_gene_variant,,ENST00000563858,;NUP93,upstream_gene_variant,,ENST00000563405,;NUP93,downstream_gene_variant,,ENST00000563437,;	1709	72	75	SUCCESS
PSKH1	5681	.	GRCh37	16	67943502	67943502	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	98	0	ENST00000291041.5:c.850G>T	p.Gly284Cys	p.G284C	ENST00000291041	NM_006742.2	284	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS10851.1	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGGCGTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF142,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000291041	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000291041	Transcript	.	.	ENSG00000159792	9529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KPSH1_HUMAN	PSKH1	HGNC	.	.	UPI000012DFE0	SNV	PSKH1,missense_variant,p.Gly284Cys,ENST00000291041,;PSKH1,non_coding_transcript_exon_variant,,ENST00000570631,;	1020	98	114	SUCCESS
PDPR	55066	.	GRCh37	16	70170122	70170122	+	synonymous_variant	Silent	SNP	G	G	A	rs748761290	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	6	98	0	ENST00000288050.4:c.1023G>A	p.Arg341=	p.R341=	ENST00000288050	NM_017990.3	341	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45520.1	1023	MUTECT|MUSE	.	CTGAGGAGGAT	NONE	.	.	hmmpanther:PTHR13847:SF146,hmmpanther:PTHR13847,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000288050	.	10/19	.	.	.	.	.	.	.	.	rs748761290	10/19	nonpreferredpair	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,synonymous_variant,p.%3D,ENST00000288050,;PDPR,synonymous_variant,p.%3D,ENST00000398122,;PDPR,synonymous_variant,p.%3D,ENST00000568530,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,synonymous_variant,p.%3D,ENST00000565186,;PDPR,non_coding_transcript_exon_variant,,ENST00000561920,;	1980	98	132	SUCCESS
HYDIN	54768	.	GRCh37	16	70863697	70863697	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	35	0	ENST00000393567.2:c.13936A>G	p.Thr4646Ala	p.T4646A	ENST00000393567	NM_001270974.1	4646	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59269.1	13936	RADIA|VARSCANS	.	CTGCGTGTGCT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	81/86	.	.	.	.	.	.	.	.	.	81/86	nonpreferredpair	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.801)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Thr4646Ala,ENST00000393567,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	14087	35	50	SUCCESS
KCNG4	93107	.	GRCh37	16	84270993	84270993	+	synonymous_variant	Silent	SNP	C	C	A	rs374330675	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	39	89	0	ENST00000308251.4:c.99G>T	p.Thr33=	p.T33=	ENST00000308251	NM_172347.2	33	acG/acT	0	T:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS10945.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGCGTCTC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000312129	.	2/3	.	.	.	.	.	.	.	.	rs374330675,COSM3795192	2/3	nonpreferredpair	ENST00000308251	Transcript	.	.	ENSG00000168418	19697	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNG4_HUMAN	KCNG4	HGNC	Q547S7_HUMAN	.	UPI00000557D8	SNV	KCNG4,synonymous_variant,p.%3D,ENST00000568181,;KCNG4,synonymous_variant,p.%3D,ENST00000308251,;	168	89	121	SUCCESS
SUPT6H	6830	.	GRCh37	17	27023949	27023949	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	82	205	0	ENST00000314616.6:c.4058G>A	p.Gly1353Asp	p.G1353D	ENST00000314616	NM_003170.3	1353	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32596.1	4058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGTGATG	NONE	.	.	Superfamily_domains:SSF55550,SMART_domains:SM00252,PIRSF_domain:PIRSF036947,Gene3D:3.30.505.10,Pfam_domain:PF14633,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145,PROSITE_profiles:PS50001	.	.	ENSP00000319104	.	30/37	.	.	.	.	.	.	.	.	.	30/37	nonpreferredpair	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,missense_variant,p.Gly1353Asp,ENST00000314616,;SUPT6H,missense_variant,p.Gly1353Asp,ENST00000347486,;SUPT6H,upstream_gene_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000580471,;SUPT6H,upstream_gene_variant,,ENST00000583340,;	4341	205	242	SUCCESS
ANKFY1	51479	.	GRCh37	17	4086813	4086825	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCCCAGCAGCT	GAGCCCAGCAGCT	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	GAGCCCAGCAGCT	GAGCCCAGCAGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	63	0	ENST00000341657.4:c.1820_1832del	p.Gln607LeufsTer38	p.Q607Lfs*38	ENST00000341657	NM_016376.3	607	cAGCTGCTGGGCTCt/ct	0	.	.	.	.	.	-	QLLGS/X	protein_coding	YES	CCDS58502.1	1946-1958	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCCAGAGCCCAGCAGCTGGGCT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	14/25	.	.	.	.	.	.	.	.	.	14/25	nonpreferredpair	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	deletion	ANKFY1,frameshift_variant,p.Gln607LeufsTer38,ENST00000341657,;ANKFY1,frameshift_variant,p.Gln607LeufsTer38,ENST00000574367,;ANKFY1,frameshift_variant,p.Gln649LeufsTer38,ENST00000570535,;ANKFY1,coding_sequence_variant,,ENST00000574736,;CYB5D2,intron_variant,,ENST00000573984,;Y_RNA,upstream_gene_variant,,ENST00000516003,;ANKFY1,downstream_gene_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,downstream_gene_variant,,ENST00000575509,;ANKFY1,upstream_gene_variant,,ENST00000572564,;ANKFY1,upstream_gene_variant,,ENST00000571547,;	2063-2075	63	75	SUCCESS
MYBBP1A	10514	.	GRCh37	17	4446343	4446343	+	synonymous_variant	Silent	SNP	G	G	A	rs769485013	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	48	0	ENST00000254718.4:c.2757C>T	p.Thr919=	p.T919=	ENST00000254718		919	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42238.1	2757	MUTECT|MUSE|VARSCANS	.	AGGGCGGTGGG	NONE	byFrequency	.	hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213,Superfamily_domains:SSF48371	.	.	ENSP00000370968	.	20/27	.	.	.	.	.	.	.	.	rs769485013,COSM1521355	20/27	nonpreferredpair	ENST00000381556	Transcript	.	.	ENSG00000132382	7546	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	MBB1A_HUMAN	MYBBP1A	HGNC	.	.	UPI0000551C8B	SNV	MYBBP1A,synonymous_variant,p.%3D,ENST00000254718,;MYBBP1A,synonymous_variant,p.%3D,ENST00000381556,;MYBBP1A,synonymous_variant,p.%3D,ENST00000573116,;MYBBP1A,intron_variant,,ENST00000573723,;MYBBP1A,intron_variant,,ENST00000572759,;SPNS2,downstream_gene_variant,,ENST00000329078,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000571368,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574547,;MYBBP1A,downstream_gene_variant,,ENST00000573175,;SPNS2,downstream_gene_variant,,ENST00000570979,;MYBBP1A,upstream_gene_variant,,ENST00000574934,;MYBBP1A,upstream_gene_variant,,ENST00000575662,;MYBBP1A,upstream_gene_variant,,ENST00000574167,;MYBBP1A,downstream_gene_variant,,ENST00000571354,;	2819	48	67	SUCCESS
TEX2	55852	.	GRCh37	17	62248484	62248484	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	27	103	0	ENST00000583097.1:c.2647T>A	p.Phe883Ile	p.F883I	ENST00000583097		883	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11658.1	2668	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAAGGCCT	NONE	.	.	hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2,Pfam_domain:PF10296	.	.	ENSP00000258991	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.352)	.	tolerated(0.09)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Phe883Ile,ENST00000584379,;TEX2,missense_variant,p.Phe890Ile,ENST00000258991,;TEX2,missense_variant,p.Phe883Ile,ENST00000583097,;TEX2,missense_variant,p.Phe384Ile,ENST00000583501,;TEX2,non_coding_transcript_exon_variant,,ENST00000577489,;	2753	103	194	SUCCESS
SDK2	54549	.	GRCh37	17	71443757	71443757	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs568104292	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	357	52	200	1	ENST00000392650.3:c.610G>A	p.Glu204Lys	p.E204K	ENST00000392650	NM_001144952.1	204	Gag/Aag	0	.	G:0	.	G:0	.	T	E/K	protein_coding	YES	CCDS45769.1	610	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCCACGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,SMART_domains:SM00409	G:0	.	ENSP00000376421	G:0	5/45	.	.	.	.	.	.	.	.	rs568104292	5/45	nonpreferredpair	ENST00000392650	Transcript	.	G:0.0004	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	G:0.002	tolerated(0.56)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Glu204Lys,ENST00000388726,;SDK2,missense_variant,p.Glu204Lys,ENST00000392650,;	611	201	409	SUCCESS
KIF19	124602	.	GRCh37	17	72342641	72342641	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	144	127	0	ENST00000389916.4:c.902G>T	p.Ser301Ile	p.S301I	ENST00000389916	NM_153209.3	301	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS32718.2	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGCAAGC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000374566	.	8/20	.	.	.	.	.	.	.	.	.	8/20	nonpreferredpair	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ser301Ile,ENST00000389916,;KIF19,missense_variant,p.Ser259Ile,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1040	127	259	SUCCESS
ZBTB4	57659	.	GRCh37	17	7370078	7370078	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1237090541	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	33	0	ENST00000311403.4:c.43G>A	p.Ala15Thr	p.A15T	ENST00000311403	NM_020899.3	15	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11107.1	43	RADIA|MUSE	.	GACGGCGGGGG	NONE	.	.	hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF0,Gene3D:3.30.710.10,Superfamily_domains:SSF54695	.	.	ENSP00000307858	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000311403	Transcript	.	.	ENSG00000174282	23847	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	ZBTB4_HUMAN	ZBTB4	HGNC	B3KVD4_HUMAN	.	UPI00001A9C9A	SNV	ZBTB4,missense_variant,p.Ala15Thr,ENST00000311403,;ZBTB4,missense_variant,p.Ala15Thr,ENST00000380599,;	383	33	41	SUCCESS
ACTG1	71	.	GRCh37	17	79479128	79479128	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	46	0	ENST00000331925.2:c.164G>T	p.Gly55Val	p.G55V	ENST00000331925	NM_001614.3	55	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11782.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCGCCCACG	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF187,PROSITE_patterns:PS00406,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000458162	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000575842	Transcript	.	.	ENSG00000184009	144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ACTG_HUMAN	ACTG1	HGNC	Q9UE89_HUMAN,Q96FU6_HUMAN,Q96DE1_HUMAN,Q6PJ43_HUMAN,Q562Z7_HUMAN,I3L3R2_HUMAN,I3L3I0_HUMAN,I3L1U9_HUMAN,B4E3A4_HUMAN,B3KWQ3_HUMAN,A5GZ75_HUMAN,A4UCT3_HUMAN,A1E282_HUMAN	.	UPI0000000C38	SNV	ACTG1,missense_variant,p.Gly55Val,ENST00000575994,;ACTG1,missense_variant,p.Gly55Val,ENST00000575842,;ACTG1,missense_variant,p.Gly46Val,ENST00000571691,;ACTG1,missense_variant,p.Gly55Val,ENST00000573283,;ACTG1,missense_variant,p.Gly55Val,ENST00000571721,;ACTG1,missense_variant,p.Gly55Val,ENST00000331925,;ACTG1,missense_variant,p.Gly55Val,ENST00000575087,;ACTG1,missense_variant,p.Gly55Val,ENST00000575659,;ACTG1,missense_variant,p.Gly55Val,ENST00000570382,;AC139149.1,upstream_gene_variant,,ENST00000584254,;RP13-766D20.2,upstream_gene_variant,,ENST00000430912,;ACTG1,missense_variant,p.Gly55Val,ENST00000572105,;ACTG1,missense_variant,p.Gly55Val,ENST00000576544,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576214,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576209,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576917,;ACTG1,upstream_gene_variant,,ENST00000574671,;RP13-766D20.1,upstream_gene_variant,,ENST00000448147,;	591	46	63	SUCCESS
PER1	5187	.	GRCh37	17	8047144	8047144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	23	0	ENST00000317276.4:c.2512A>G	p.Lys838Glu	p.K838E	ENST00000317276	NM_002616.2	838	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS11131.1	2512	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTTGGATC	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	19/23	.	.	.	.	.	.	.	.	.	19/23	nonpreferredpair	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.48)	.	deleterious(0.03)	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	SNV	PER1,missense_variant,p.Lys838Glu,ENST00000317276,;PER1,missense_variant,p.Lys815Glu,ENST00000581082,;PER1,downstream_gene_variant,,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000583559,;PER1,non_coding_transcript_exon_variant,,ENST00000578089,;PER1,non_coding_transcript_exon_variant,,ENST00000578950,;PER1,intron_variant,,ENST00000582719,;PER1,downstream_gene_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000585284,;PER1,upstream_gene_variant,,ENST00000579098,;	2750	23	36	SUCCESS
CEP76	79959	.	GRCh37	18	12699183	12699183	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	60	0	ENST00000262127.2:c.315G>A	p.Arg105=	p.R105=	ENST00000262127	NM_024899.3	105	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11861.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTCCGTGT	NONE	.	.	hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF5,Pfam_domain:PF15627	.	.	ENSP00000262127	.	4/12	.	.	.	.	.	.	.	.	.	4/12	nonpreferredpair	ENST00000262127	Transcript	.	.	ENSG00000101624	25727	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEP76_HUMAN	CEP76	HGNC	.	.	UPI00000715E7	SNV	CEP76,synonymous_variant,p.%3D,ENST00000262127,;PSMG2,intron_variant,,ENST00000585331,;PSMG2,intron_variant,,ENST00000586445,;CEP76,intron_variant,,ENST00000423709,;CEP76,upstream_gene_variant,,ENST00000587666,;CEP76,upstream_gene_variant,,ENST00000591034,;PSMG2,upstream_gene_variant,,ENST00000317615,;CEP76,upstream_gene_variant,,ENST00000585751,;PSMG2,upstream_gene_variant,,ENST00000590217,;CEP76,non_coding_transcript_exon_variant,,ENST00000592660,;CEP76,intron_variant,,ENST00000589875,;CEP76,intron_variant,,ENST00000586887,;CEP76,3_prime_UTR_variant,,ENST00000590143,;CEP76,intron_variant,,ENST00000587929,;CEP76,intron_variant,,ENST00000593250,;PSMG2,upstream_gene_variant,,ENST00000586587,;	541	60	95	SUCCESS
DSG4	147409	.	GRCh37	18	28971168	28971168	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	72	0	ENST00000308128.4:c.812A>C	p.Lys271Thr	p.K271T	ENST00000308128	NM_177986.3	271	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS45845.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAAACTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000352785	.	7/15	.	.	.	.	.	.	.	.	.	7/15	nonpreferredpair	ENST00000359747	Transcript	.	.	ENSG00000175065	21307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.12)	.	DSG4_HUMAN	DSG4	HGNC	.	.	UPI000035DB4E	SNV	DSG4,missense_variant,p.Lys271Thr,ENST00000308128,;DSG4,missense_variant,p.Lys271Thr,ENST00000359747,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;	841	72	82	SUCCESS
DSG2	1829	.	GRCh37	18	29115251	29115251	+	synonymous_variant	Silent	SNP	T	T	C	rs367548984	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	76	1	ENST00000261590.8:c.1299T>C	p.Asp433=	p.D433=	ENST00000261590	NM_001943.3	433	gaT/gaC	0	C:0.0003	.	.	.	.	C	D	protein_coding	YES	CCDS42423.1	1299	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GAAGATAGAGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	C:0	ENSP00000261590	.	10/15	.	.	.	.	.	.	.	.	rs367548984	10/15	nonpreferredpair	ENST00000261590	Transcript	.	.	ENSG00000046604	3049	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DSG2_HUMAN	DSG2	HGNC	.	.	UPI0000048E38	SNV	DSG2,synonymous_variant,p.%3D,ENST00000261590,;	1508	77	70	SUCCESS
RPRD1A	55197	.	GRCh37	18	33573185	33573185	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758740817	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	34	98	0	ENST00000357384.4:c.868T>C	p.Ser290Pro	p.S290P	ENST00000357384		290	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS11917.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGATAAGT	NONE	byFrequency	.	hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF2	.	.	ENSP00000381984	.	7/7	.	.	.	.	.	.	.	.	rs758740817	7/7	nonpreferredpair	ENST00000399022	Transcript	.	.	ENSG00000141425	25560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	RPR1A_HUMAN	RPRD1A	HGNC	K7ER50_HUMAN	.	UPI0000036029	SNV	RPRD1A,missense_variant,p.Ser254Pro,ENST00000588737,;RPRD1A,missense_variant,p.Ser254Pro,ENST00000337059,;RPRD1A,missense_variant,p.Ser27Pro,ENST00000587563,;RPRD1A,missense_variant,p.Ser254Pro,ENST00000590898,;RPRD1A,missense_variant,p.Ser290Pro,ENST00000357384,;RPRD1A,missense_variant,p.Ser290Pro,ENST00000399022,;RPRD1A,upstream_gene_variant,,ENST00000585879,;	1040	98	114	SUCCESS
MRO	83876	.	GRCh37	18	48346357	48346367	+	intron_variant	Intron	DEL	TTCTGCAGAAA	TTCTGCAGAAA	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	TTCTGCAGAAA	TTCTGCAGAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	89	17	80	0	ENST00000256425.2:c.-126-295_-126-285del		p.*42*	ENST00000256425				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45868.1	.	INDELOCATOR|VARSCANI	.	GACACTTTCTGCAGAAATTCTG	NONE	.	.	.	.	.	ENSP00000397900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000436348	Transcript	.	.	ENSG00000134042	24121	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSTRO_HUMAN	MRO	HGNC	.	.	UPI000174C6BE	deletion	MRO,5_prime_UTR_variant,,ENST00000431965,;MRO,5_prime_UTR_variant,,ENST00000436348,;MRO,intron_variant,,ENST00000428869,;MRO,intron_variant,,ENST00000588444,;MRO,intron_variant,,ENST00000256425,;MRO,upstream_gene_variant,,ENST00000398439,;MRO,upstream_gene_variant,,ENST00000592966,;MRO,upstream_gene_variant,,ENST00000587291,;MRO,5_prime_UTR_variant,,ENST00000585524,;MRO,5_prime_UTR_variant,,ENST00000590988,;HNRNPA3P16,downstream_gene_variant,,ENST00000591842,;RPL17P46,upstream_gene_variant,,ENST00000496512,;	68-78	80	106	SUCCESS
WIZ	58525	.	GRCh37	19	15538010	15538010	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	65	0	ENST00000263381.7:c.864C>T	p.Gly288=	p.G288=	ENST00000263381	NM_021241.2	288	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42516.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGCCCGG	NONE	.	.	hmmpanther:PTHR24402:SF162,hmmpanther:PTHR24402,Low_complexity_(Seg):seg	.	.	ENSP00000263381	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000263381	Transcript	.	.	ENSG00000011451	30917	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIZ_HUMAN	WIZ	HGNC	M0QXF8_HUMAN	.	UPI000041F888	SNV	WIZ,synonymous_variant,p.%3D,ENST00000545156,;WIZ,synonymous_variant,p.%3D,ENST00000263381,;WIZ,synonymous_variant,p.%3D,ENST00000599686,;WIZ,synonymous_variant,p.%3D,ENST00000389282,;WIZ,synonymous_variant,p.%3D,ENST00000599910,;WIZ,upstream_gene_variant,,ENST00000600632,;	1078	65	97	SUCCESS
CYP4F2	8529	.	GRCh37	19	16000329	16000329	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	100	176	0	ENST00000221700.6:c.822G>A	p.Arg274=	p.R274=	ENST00000221700	NM_001082.3	274	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12336.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGCCGCTC	NONE	.	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF45,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000221700	.	7/13	.	.	.	.	.	.	.	.	.	7/13	nonpreferredpair	ENST00000221700	Transcript	1	.	ENSG00000186115	2645	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4F2_HUMAN	CYP4F2	HGNC	K7EK90_HUMAN	.	UPI0000052BE6	SNV	CYP4F2,synonymous_variant,p.%3D,ENST00000221700,;CYP4F2,synonymous_variant,p.%3D,ENST00000011989,;CYP4F2,upstream_gene_variant,,ENST00000589654,;CYP4F2,downstream_gene_variant,,ENST00000586927,;CYP4F2,3_prime_UTR_variant,,ENST00000587671,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000608168,;CYP4F2,upstream_gene_variant,,ENST00000592710,;	918	176	238	SUCCESS
ZNF99	7652	.	GRCh37	19	22940609	22940609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	14	0	ENST00000596209.1:c.2102G>T	p.Gly701Val	p.G701V	ENST00000596209	NM_001080409.2	701	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS59369.1	2102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCCAGTA	BUFFER|p.K611E|c.1831A>G|3	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Gly610Val,ENST00000397104,;ZNF99,missense_variant,p.Gly701Val,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	2193	15	30	SUCCESS
ZNF99	7652	.	GRCh37	19	22940610	22940610	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1568382723	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	16	0	ENST00000596209.1:c.2101G>T	p.Gly701Ter	p.G701*	ENST00000596209	NM_001080409.2	701	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS59369.1	2101	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCAGTAT	BUFFER|p.K611E|c.1831A>G|3	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,stop_gained,p.Gly610Ter,ENST00000397104,;ZNF99,stop_gained,p.Gly701Ter,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	2192	16	31	SUCCESS
SARS2	54938	.	GRCh37	19	39421333	39421333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773524954	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	47	0	ENST00000221431.6:c.44G>A	p.Arg15His	p.R15H	ENST00000221431	NM_017827.3	15	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS54265.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGACGAGTC	NONE	byFrequency	.	.	.	.	ENSP00000472847	.	1/17	.	.	.	.	.	.	.	.	rs773524954	1/17	nonpreferredpair	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.26)	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,missense_variant,p.Arg15His,ENST00000600042,;SARS2,missense_variant,p.Arg15His,ENST00000221431,;SARS2,missense_variant,p.Arg15His,ENST00000430193,;MRPS12,5_prime_UTR_variant,,ENST00000308018,;SARS2,intron_variant,,ENST00000448145,;CTC-360G5.8,intron_variant,,ENST00000599996,;MRPS12,upstream_gene_variant,,ENST00000407800,;SARS2,upstream_gene_variant,,ENST00000594171,;MRPS12,upstream_gene_variant,,ENST00000402029,;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;SARS2,missense_variant,p.Arg15His,ENST00000455102,;SARS2,missense_variant,p.Arg15His,ENST00000598343,;SARS2,missense_variant,p.Arg15His,ENST00000593754,;SARS2,non_coding_transcript_exon_variant,,ENST00000598598,;MRPS12,upstream_gene_variant,,ENST00000598734,;	69	47	61	SUCCESS
SPTBN4	57731	.	GRCh37	19	41009866	41009866	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775127507	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	48	0	ENST00000352632.3:c.1492G>A	p.Glu498Lys	p.E498K	ENST00000352632		498	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12559.1	1492	MUTECT|MUSE	.	CAGCCGAAGGC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000263373	.	12/36	.	.	.	.	.	.	.	.	rs775127507	12/36	nonpreferredpair	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.572)	.	deleterious(0)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Glu498Lys,ENST00000338932,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000352632,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000598249,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000595535,;SPTBN4,missense_variant,p.Glu498Lys,ENST00000344104,;SPTBN4,downstream_gene_variant,,ENST00000598775,;	1578	48	47	SUCCESS
ZNF180	7733	.	GRCh37	19	44980916	44980916	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	60	0	ENST00000221327.4:c.1782A>T	p.Val594=	p.V594=	ENST00000221327	NM_013256.4	594	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12639.1	1782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTACAAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221327	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000221327	Transcript	.	.	ENSG00000167384	12970	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN180_HUMAN	ZNF180	HGNC	K7EQX9_HUMAN,K7EQP0_HUMAN	.	UPI000013C7BD	SNV	ZNF180,synonymous_variant,p.%3D,ENST00000592529,;ZNF180,synonymous_variant,p.%3D,ENST00000391956,;ZNF180,synonymous_variant,p.%3D,ENST00000221327,;ZNF180,downstream_gene_variant,,ENST00000587047,;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,downstream_gene_variant,,ENST00000591064,;AC069278.4,upstream_gene_variant,,ENST00000591684,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,3_prime_UTR_variant,,ENST00000592095,;ZNF180,3_prime_UTR_variant,,ENST00000590088,;ZNF285B,downstream_gene_variant,,ENST00000561698,;ZNF285B,downstream_gene_variant,,ENST00000318605,;	2064	60	86	SUCCESS
TICAM1	148022	.	GRCh37	19	4818030	4818030	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	28	0	ENST00000248244.5:c.360A>C	p.Glu120Asp	p.E120D	ENST00000248244	NM_182919.3	120	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS12136.1	360	MUTECT|MUSE	.	ACGGCTTCCTG	NONE	.	.	PIRSF_domain:PIRSF037744	.	.	ENSP00000248244	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000248244	Transcript	1	.	ENSG00000127666	18348	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.093)	.	deleterious(0.01)	.	TCAM1_HUMAN	TICAM1	HGNC	.	.	UPI000000D72E	SNV	TICAM1,missense_variant,p.Glu120Asp,ENST00000248244,;	590	28	28	SUCCESS
KCNA7	3743	.	GRCh37	19	49573780	49573780	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376824241	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	8	87	0	ENST00000221444.1:c.911C>T	p.Thr304Met	p.T304M	ENST00000221444	NM_031886.2	304	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS12755.1	911	MUTECT|MUSE	.	GAAGCGTCTGG	BUFFER|p.R306W|c.916C>T|3	byCluster	.	hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	A:0.0001	ENSP00000221444	.	2/2	.	.	.	.	.	.	.	.	rs376824241,COSM1255232	2/2	nonpreferredpair	ENST00000221444	Transcript	.	.	ENSG00000104848	6226	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	KCNA7_HUMAN	KCNA7	HGNC	.	.	UPI000004F638	SNV	KCNA7,missense_variant,p.Thr304Met,ENST00000221444,;	1267	87	120	SUCCESS
LENG8	114823	.	GRCh37	19	54967843	54967843	+	synonymous_variant	Silent	SNP	C	C	A	rs747559717	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	56	0	ENST00000326764.5:c.1474C>A	p.Arg492=	p.R492=	ENST00000326764	NM_052925.2	492	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12894.1	1474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTCGAAAG	NONE	byFrequency	.	hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	11/16	.	.	.	.	.	.	.	.	rs747559717	11/16	nonpreferredpair	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,synonymous_variant,p.%3D,ENST00000326764,;LENG8,synonymous_variant,p.%3D,ENST00000431846,;LENG8,synonymous_variant,p.%3D,ENST00000376526,;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,downstream_gene_variant,,ENST00000462541,;	1953	56	74	SUCCESS
SYT5	6861	.	GRCh37	19	55686689	55686689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	42	0	ENST00000354308.3:c.559G>T	p.Gly187Trp	p.G187W	ENST00000354308	NM_003180.2	187	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS12919.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCCAGCT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00399	.	.	ENSP00000346265	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000354308	Transcript	.	.	ENSG00000129990	11513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SYT5_HUMAN	SYT5	HGNC	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN	.	UPI000013C56F	SNV	SYT5,missense_variant,p.Gly187Trp,ENST00000537500,;SYT5,missense_variant,p.Gly187Trp,ENST00000354308,;SYT5,missense_variant,p.Gly184Trp,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000590859,;SYT5,downstream_gene_variant,,ENST00000589172,;SYT5,downstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,3_prime_UTR_variant,,ENST00000585461,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,non_coding_transcript_exon_variant,,ENST00000592956,;	929	42	43	SUCCESS
TUBB4A	10382	.	GRCh37	19	6495192	6495192	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	32	69	0	ENST00000264071.2:c.1318G>C	p.Glu440Gln	p.E440Q	ENST00000264071		440	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS12168.1	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588	.	.	ENSP00000264071	.	4/4	.	.	.	.	.	.	.	.	COSM3540955	4/4	nonpreferredpair	ENST00000264071	Transcript	1	.	ENSG00000104833	20774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.09)	1	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,missense_variant,p.Glu440Gln,ENST00000264071,;TUBB4A,missense_variant,p.Glu440Gln,ENST00000540257,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000594290,;TUBB4A,downstream_gene_variant,,ENST00000595324,;	1690	69	143	SUCCESS
TUBB4A	10382	.	GRCh37	19	6495193	6495193	+	synonymous_variant	Silent	SNP	C	C	G	rs201070507	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	34	70	0	ENST00000264071.2:c.1317G>C	p.Ala439=	p.A439=	ENST00000264071		439	gcG/gcC	0	T:0	.	.	.	.	G	A	protein_coding	YES	CCDS12168.1	1317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCGCCTC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588	.	T:0.0001	ENSP00000264071	.	4/4	.	.	.	.	.	.	.	.	rs201070507	4/4	nonpreferredpair	ENST00000264071	Transcript	1	.	ENSG00000104833	20774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,synonymous_variant,p.%3D,ENST00000264071,;TUBB4A,synonymous_variant,p.%3D,ENST00000540257,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000594290,;TUBB4A,downstream_gene_variant,,ENST00000595324,;	1689	70	143	SUCCESS
C3	718	.	GRCh37	19	6693493	6693493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	38	0	ENST00000245907.6:c.3160A>G	p.Thr1054Ala	p.T1054A	ENST00000245907	NM_000064.2	1054	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32883.1	3160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGTGTACC	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000245907	.	25/41	.	.	.	.	.	.	.	.	.	25/41	nonpreferredpair	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.35)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Thr1054Ala,ENST00000245907,;C3,upstream_gene_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,;	3253	38	34	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7504866	7504866	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745388682	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	81	0	ENST00000359920.6:c.40G>T	p.Ala14Ser	p.A14S	ENST00000359920	NM_001130955.1	14	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45946.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGCTGCT	NONE	.	.	.	.	.	ENSP00000352995	.	1/20	.	.	.	.	.	.	.	.	rs745388682	1/20	nonpreferredpair	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	deleterious_low_confidence(0.02)	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,missense_variant,p.Ala14Ser,ENST00000359920,;ARHGEF18,intron_variant,,ENST00000319670,;CTD-2207O23.3,intron_variant,,ENST00000593531,;ARHGEF18,intron_variant,,ENST00000599752,;ARHGEF18,upstream_gene_variant,,ENST00000595600,;	293	81	83	SUCCESS
PTCHD2	0	.	GRCh37	1	11589684	11589684	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	108	233	0	ENST00000294484.6:c.2870T>G	p.Leu957Arg	p.L957R	ENST00000294484	NM_020780.1	957	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS41247.1	2870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCTTA	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	14/21	.	.	.	.	.	.	.	.	.	14/21	nonpreferredpair	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.41)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Leu957Arg,ENST00000389575,;PTCHD2,missense_variant,p.Leu957Arg,ENST00000294484,;PTCHD2,upstream_gene_variant,,ENST00000304391,;	3008	233	367	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155932460	155932460	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	16	144	0	ENST00000361247.4:c.1025G>A	p.Cys342Tyr	p.C342Y	ENST00000361247	NM_001162384.1	342	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS53376.1	1025	MUTECT|MUSE|VARSCANS	.	GGCTGCAGAAC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000354837	.	9/22	.	.	.	.	.	.	.	.	.	9/22	nonpreferredpair	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.424)	.	deleterious(0)	.	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	SNV	ARHGEF2,missense_variant,p.Cys342Tyr,ENST00000361247,;ARHGEF2,missense_variant,p.Cys343Tyr,ENST00000368315,;ARHGEF2,missense_variant,p.Cys314Tyr,ENST00000313695,;ARHGEF2,missense_variant,p.Cys314Tyr,ENST00000368316,;ARHGEF2,missense_variant,p.Cys341Tyr,ENST00000313667,;ARHGEF2,missense_variant,p.Cys387Tyr,ENST00000462460,;ARHGEF2,downstream_gene_variant,,ENST00000471589,;ARHGEF2,downstream_gene_variant,,ENST00000497907,;ARHGEF2,downstream_gene_variant,,ENST00000609707,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,upstream_gene_variant,,ENST00000474428,;ARHGEF2,downstream_gene_variant,,ENST00000476273,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000608543,;ARHGEF2,downstream_gene_variant,,ENST00000470874,;ARHGEF2,upstream_gene_variant,,ENST00000470975,;	1125	144	207	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156937793	156937793	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	34	93	0	ENST00000361409.2:c.829T>G	p.Ser277Ala	p.S277A	ENST00000361409	NM_014784.3	277	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS1163.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGAGGGGA	NONE	.	.	hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825	.	.	ENSP00000357177	.	11/41	.	.	.	.	.	.	.	.	.	11/41	nonpreferredpair	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.18)	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,missense_variant,p.Ser277Ala,ENST00000361409,;ARHGEF11,missense_variant,p.Ser317Ala,ENST00000368194,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000483682,;ARHGEF11,upstream_gene_variant,,ENST00000486670,;	1989	93	157	SUCCESS
FCRL5	83416	.	GRCh37	1	157494326	157494326	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	14	118	0	ENST00000361835.3:c.1982T>A	p.Leu661His	p.L661H	ENST00000361835	NM_001195388.1	661	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS1165.1	1982	MUTECT|MUSE	.	AGGTGAGGATG	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13927,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	10/17	.	.	.	.	.	.	.	.	.	10/17	nonpreferredpair	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Leu661His,ENST00000361835,;FCRL5,missense_variant,p.Leu661His,ENST00000368190,;FCRL5,missense_variant,p.Leu661His,ENST00000356953,;FCRL5,missense_variant,p.Leu576His,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	2140	118	235	SUCCESS
SELP	6403	.	GRCh37	1	169599347	169599347	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	83	0	ENST00000263686.6:c.-35G>T		p.*12*	ENST00000263686	NM_003005.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1282.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCCCAAC	NONE	.	.	.	.	.	ENSP00000263686	.	1/17	.	.	.	.	.	.	.	.	.	1/17	nonpreferredpair	ENST00000263686	Transcript	.	.	ENSG00000174175	10721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYAM3_HUMAN	SELP	HGNC	Q6ULR6_HUMAN	.	UPI0000204D4A	SNV	SELP,5_prime_UTR_variant,,ENST00000263686,;SELP,5_prime_UTR_variant,,ENST00000367793,;SELP,5_prime_UTR_variant,,ENST00000367794,;SELP,5_prime_UTR_variant,,ENST00000367792,;SELP,5_prime_UTR_variant,,ENST00000367788,;SELP,5_prime_UTR_variant,,ENST00000367791,;SELP,upstream_gene_variant,,ENST00000458599,;SELP,upstream_gene_variant,,ENST00000367795,;SELP,upstream_gene_variant,,ENST00000367786,;	4	83	97	SUCCESS
SERPINC1	462	.	GRCh37	1	173880936	173880936	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1572090079	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	67	137	0	ENST00000367698.3:c.624+1G>A		p.X208_splice	ENST00000367698	NM_000488.3	208		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1313.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCTTGA	NONE	.	.	.	.	.	ENSP00000356671	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000367698	Transcript	.	.	ENSG00000117601	775	.	.	HIGH	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANT3_HUMAN	SERPINC1	HGNC	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN	.	UPI000002C0C1	SNV	SERPINC1,splice_donor_variant,,ENST00000367698,;SERPINC1,splice_donor_variant,,ENST00000487183,;SERPINC1,downstream_gene_variant,,ENST00000494024,;	.	137	165	SUCCESS
NPL	80896	.	GRCh37	1	182794948	182794948	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	25	0	ENST00000258317.2:c.771C>G	p.Val257=	p.V257=	ENST00000258317		257	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS1350.1	771	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCAAACT	NONE	.	.	hmmpanther:PTHR12128:SF21,hmmpanther:PTHR12128,Pfam_domain:PF00701,Gene3D:3.20.20.70,PIRSF_domain:PIRSF001365,Superfamily_domains:SSF51569	.	.	ENSP00000356524	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000367553	Transcript	.	.	ENSG00000135838	16781	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPL_HUMAN	NPL	HGNC	.	.	UPI00000728AB	SNV	NPL,synonymous_variant,p.%3D,ENST00000367552,;NPL,synonymous_variant,p.%3D,ENST00000258317,;NPL,synonymous_variant,p.%3D,ENST00000367554,;NPL,synonymous_variant,p.%3D,ENST00000367553,;NPL,synonymous_variant,p.%3D,ENST00000367555,;NPL,non_coding_transcript_exon_variant,,ENST00000463899,;NPL,non_coding_transcript_exon_variant,,ENST00000488424,;NPL,intron_variant,,ENST00000460179,;	815	25	38	SUCCESS
NFASC	23114	.	GRCh37	1	204970404	204970404	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	22	166	0	ENST00000339876.6:c.3126G>C	p.Glu1042Asp	p.E1042D	ENST00000339876	NM_001005388.2	1042	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS53460.1	3126	MUTECT|MUSE|VARSCANS	.	GTTGAGTACAT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50853	.	.	ENSP00000344786	.	26/30	.	.	.	.	.	.	.	.	.	26/30	nonpreferredpair	ENST00000339876	Transcript	.	.	ENSG00000163531	29866	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0)	.	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,missense_variant,p.Glu1070Asp,ENST00000367170,;NFASC,missense_variant,p.Glu1042Asp,ENST00000401399,;NFASC,missense_variant,p.Glu89Asp,ENST00000413225,;NFASC,missense_variant,p.Glu1134Asp,ENST00000367171,;NFASC,missense_variant,p.Glu1042Asp,ENST00000339876,;NFASC,missense_variant,p.Glu1149Asp,ENST00000367172,;NFASC,intron_variant,,ENST00000404076,;NFASC,intron_variant,,ENST00000447819,;NFASC,intron_variant,,ENST00000338515,;NFASC,intron_variant,,ENST00000360049,;NFASC,intron_variant,,ENST00000425360,;NFASC,intron_variant,,ENST00000404907,;NFASC,intron_variant,,ENST00000539706,;NFASC,intron_variant,,ENST00000367173,;NFASC,intron_variant,,ENST00000430393,;NFASC,intron_variant,,ENST00000513543,;NFASC,intron_variant,,ENST00000367169,;NFASC,intron_variant,,ENST00000338586,;NFASC,intron_variant,,ENST00000495396,;NFASC,intron_variant,,ENST00000404977,;NFASC,downstream_gene_variant,,ENST00000492085,;NFASC,intron_variant,,ENST00000504476,;	3454	166	258	SUCCESS
PFKFB2	5208	.	GRCh37	1	207241653	207241653	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	51	0	ENST00000367080.3:c.986C>T	p.Ala329Val	p.A329V	ENST00000367080	NM_006212.2	329	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31004.1	986	MUTECT|MUSE	.	TGATGCTGTGA	NONE	.	.	hmmpanther:PTHR10606:SF13,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,PIRSF_domain:PIRSF000709,SMART_domains:SM00855,Superfamily_domains:SSF53254,Prints_domain:PR00991	.	.	ENSP00000356047	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000367080	Transcript	.	.	ENSG00000123836	8873	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	F262_HUMAN	PFKFB2	HGNC	B0FLL2_HUMAN	.	UPI000012A3F0	SNV	PFKFB2,missense_variant,p.Ala143Val,ENST00000541914,;PFKFB2,missense_variant,p.Ala329Val,ENST00000367079,;PFKFB2,missense_variant,p.Ala329Val,ENST00000367080,;PFKFB2,missense_variant,p.Ala231Val,ENST00000411990,;PFKFB2,missense_variant,p.Ala296Val,ENST00000545806,;PFKFB2,upstream_gene_variant,,ENST00000473310,;PFKFB2,upstream_gene_variant,,ENST00000483688,;	1110	51	81	SUCCESS
MIR1256	100302155	.	GRCh37	1	21314838	21314838	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs948493374	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	41	104	0	ENST00000408881.1:n.88A>G		p.*30*	ENST00000408881				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55580.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATGCATT	NONE	.	.	.	.	.	ENSP00000473510	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000602326	Transcript	.	.	ENSG00000075151	3298	.	.	MODIFIER	5/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4G3_HUMAN	EIF4G3	HGNC	Q59GJ0_HUMAN,F5H564_HUMAN	.	UPI0001639589	SNV	EIF4G3,intron_variant,,ENST00000374935,;EIF4G3,intron_variant,,ENST00000411888,;EIF4G3,intron_variant,,ENST00000374927,;EIF4G3,intron_variant,,ENST00000356916,;EIF4G3,intron_variant,,ENST00000400422,;EIF4G3,intron_variant,,ENST00000374937,;EIF4G3,intron_variant,,ENST00000602326,;EIF4G3,intron_variant,,ENST00000438975,;EIF4G3,intron_variant,,ENST00000264211,;MIR1256,non_coding_transcript_exon_variant,,ENST00000408881,;	.	104	138	SUCCESS
USH2A	7399	.	GRCh37	1	216040372	216040372	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	19	98	0	ENST00000307340.3:c.8822T>C	p.Ile2941Thr	p.I2941T	ENST00000307340	NM_206933.2	2941	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31025.1	8822	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGATGGCT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	44/72	.	.	.	.	.	.	.	.	.	44/72	nonpreferredpair	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.175)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Ile2941Thr,ENST00000366943,;USH2A,missense_variant,p.Ile2941Thr,ENST00000307340,;	9209	98	193	SUCCESS
USH2A	7399	.	GRCh37	1	216371756	216371756	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	12	92	0	ENST00000307340.3:c.3982G>A	p.Gly1328Ser	p.G1328S	ENST00000307340	NM_206933.2	1328	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31025.1	3982	MUTECT|MUSE|VARSCANS	.	CAAGCCAGTGA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	18/72	.	.	.	.	.	.	.	.	.	18/72	nonpreferredpair	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.911)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Gly1328Ser,ENST00000366942,;USH2A,missense_variant,p.Gly1328Ser,ENST00000366943,;USH2A,missense_variant,p.Gly1328Ser,ENST00000307340,;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	4369	92	156	SUCCESS
EPRS	0	.	GRCh37	1	220174520	220174520	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374231493	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	56	103	0	ENST00000366923.3:c.2141G>T	p.Gly714Val	p.G714V	ENST00000366923	NM_004446.2	714	gGg/gTg	0	T:0.0007	.	.	.	.	A	G/V	protein_coding	YES	CCDS31027.1	2141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCCTGAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119	.	T:0	ENSP00000355890	.	17/32	.	.	.	.	.	.	.	.	rs374231493	17/32	nonpreferredpair	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.05)	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,missense_variant,p.Gly714Val,ENST00000366923,;EPRS,missense_variant,p.Gly721Val,ENST00000609181,;EPRS,non_coding_transcript_exon_variant,,ENST00000464052,;EPRS,downstream_gene_variant,,ENST00000477030,;	2411	103	217	SUCCESS
NUP133	55746	.	GRCh37	1	229596501	229596502	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	115	28	51	0	ENST00000261396.3:c.2700dup	p.Leu901SerfsTer33	p.L901Sfs*33	ENST00000261396	NM_018230.2	900	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1579.1	2700-2701	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGAGAAAGT	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	20/26	.	.	.	.	.	.	.	.	.	20/26	nonpreferredpair	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	insertion	NUP133,frameshift_variant,p.Leu885SerfsTer33,ENST00000537506,;NUP133,frameshift_variant,p.Leu901SerfsTer33,ENST00000261396,;	2792-2793	51	143	SUCCESS
ACTN2	88	.	GRCh37	1	236850058	236850058	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750574123	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	10	73	0	ENST00000366578.4:c.85G>A	p.Asp29Asn	p.D29N	ENST00000366578	NM_001278344.1	29	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1613.1	85	MUTECT|MUSE	.	ACCGCGACCTG	NONE	.	.	Superfamily_domains:SSF47576,Gene3D:1.10.418.10	.	.	ENSP00000355537	.	1/21	.	.	.	.	.	.	.	.	rs750574123	1/21	nonpreferredpair	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.262)	.	deleterious(0.01)	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,missense_variant,p.Asp29Asn,ENST00000542672,;ACTN2,missense_variant,p.Asp29Asn,ENST00000366578,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	251	73	127	SUCCESS
NLRP3	114548	.	GRCh37	1	247599337	247599337	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	44	122	1	ENST00000336119.3:c.2564A>G	p.His855Arg	p.H855R	ENST00000336119	NM_001127462.2	855	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS1632.1	2564	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCATTCCC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.34)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.His855Arg,ENST00000336119,;NLRP3,missense_variant,p.His798Arg,ENST00000391827,;NLRP3,missense_variant,p.His855Arg,ENST00000391828,;NLRP3,intron_variant,,ENST00000366496,;NLRP3,intron_variant,,ENST00000366497,;NLRP3,intron_variant,,ENST00000348069,;	3310	123	251	SUCCESS
OR1C1	26188	.	GRCh37	1	247921053	247921053	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	110	0	ENST00000408896.2:c.656G>T	p.Gly219Val	p.G219V	ENST00000408896	NM_012353.2	219	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41481.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTCCATAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF108,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000386138	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000408896	Transcript	.	.	ENSG00000221888	8182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.63)	.	OR1C1_HUMAN	OR1C1	HGNC	.	.	UPI000004B1DC	SNV	OR1C1,missense_variant,p.Gly219Val,ENST00000408896,;	930	110	171	SUCCESS
MAN1C1	57134	.	GRCh37	1	25944335	25944335	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	41	0	ENST00000374332.4:c.47G>A	p.Gly16Glu	p.G16E	ENST00000374332	NM_020379.2	16	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS265.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGGCTGC	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF28	.	.	ENSP00000363452	.	1/12	.	.	.	.	.	.	.	.	.	1/12	nonpreferredpair	ENST00000374332	Transcript	.	.	ENSG00000117643	19080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.01)	.	MA1C1_HUMAN	MAN1C1	HGNC	B1AJZ5_HUMAN,A6NGN6_HUMAN	.	UPI000012EABD	SNV	MAN1C1,missense_variant,p.Gly16Glu,ENST00000374332,;MAN1C1,upstream_gene_variant,,ENST00000263979,;	377	41	48	SUCCESS
BTBD19	149478	.	GRCh37	1	45278683	45278683	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	41	123	1	ENST00000450269.1:c.430G>A	p.Gly144Ser	p.G144S	ENST00000450269	NM_001136537.1	144	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGGCCTG	NONE	.	.	SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR26379:SF54,hmmpanther:PTHR26379	.	.	ENSP00000395461	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000450269	Transcript	.	.	ENSG00000222009	27145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	tolerated(0.16)	.	BTBDJ_HUMAN	BTBD19	HGNC	.	.	UPI00001619D4	SNV	BTBD19,missense_variant,p.Gly144Ser,ENST00000450269,;BTBD19,missense_variant,p.Gly106Ser,ENST00000409335,;BTBD19,3_prime_UTR_variant,,ENST00000453418,;BTBD19,upstream_gene_variant,,ENST00000464114,;BTBD19,3_prime_UTR_variant,,ENST00000439563,;BTBD19,non_coding_transcript_exon_variant,,ENST00000485668,;BTBD19,non_coding_transcript_exon_variant,,ENST00000495433,;BTBD19,non_coding_transcript_exon_variant,,ENST00000482715,;BTBD19,non_coding_transcript_exon_variant,,ENST00000475105,;BTBD19,upstream_gene_variant,,ENST00000489976,;	769	124	169	SUCCESS
FGGY	55277	.	GRCh37	1	59844499	59844499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	44	0	ENST00000303721.7:c.544G>A	p.Val182Ile	p.V182I	ENST00000303721	NM_018291.3	182	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS44155.1	544	MUTECT|MUSE	.	CAGGTGTCACA	NONE	.	.	hmmpanther:PTHR10196:SF10,hmmpanther:PTHR10196,Pfam_domain:PF00370,Gene3D:3.30.420.40,TIGRFAM_domain:TIGR01315,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000360262	.	5/17	.	.	.	.	.	.	.	.	.	5/17	nonpreferredpair	ENST00000371218	Transcript	.	.	ENSG00000172456	25610	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.44)	.	FGGY_HUMAN	FGGY	HGNC	J3QKV9_HUMAN,C9J015_HUMAN	.	UPI0000458AF6	SNV	FGGY,missense_variant,p.Val182Ile,ENST00000303721,;FGGY,missense_variant,p.Val182Ile,ENST00000371218,;FGGY,missense_variant,p.Val94Ile,ENST00000371212,;FGGY,missense_variant,p.Val182Ile,ENST00000413489,;FGGY,non_coding_transcript_exon_variant,,ENST00000474476,;FGGY,missense_variant,p.Val182Ile,ENST00000430447,;FGGY,non_coding_transcript_exon_variant,,ENST00000495718,;	728	44	68	SUCCESS
CTNNBL1	56259	.	GRCh37	20	36322474	36322474	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	20	0	ENST00000361383.6:c.-51G>T		p.*17*	ENST00000361383	NM_030877.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13298.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCGGTC	NONE	.	.	.	.	.	ENSP00000355050	.	1/16	.	.	.	.	.	.	.	.	.	1/16	nonpreferredpair	ENST00000361383	Transcript	.	.	ENSG00000132792	15879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTBL1_HUMAN	CTNNBL1	HGNC	B4DE16_HUMAN,A2A2P1_HUMAN	.	UPI0000061E09	SNV	CTNNBL1,5_prime_UTR_variant,,ENST00000405275,;CTNNBL1,5_prime_UTR_variant,,ENST00000361383,;CTNNBL1,5_prime_UTR_variant,,ENST00000447935,;	67	20	21	SUCCESS
NCOA3	8202	.	GRCh37	20	46255749	46255749	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	65	148	0	ENST00000371998.3:c.362del	p.Leu121TrpfsTer8	p.L121Wfs*8	ENST00000371998		121	Ttg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS13407.1	361	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGGCATTGGAT	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Gene3D:3.30.450.20,Pfam_domain:PF00989,PIRSF_domain:PIRSF038181,SMART_domains:SM00091,Superfamily_domains:SSF55785	.	.	ENSP00000361066	.	6/23	.	.	.	.	.	.	.	.	.	6/23	nonpreferredpair	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	deletion	NCOA3,frameshift_variant,p.Leu121TrpfsTer8,ENST00000371997,;NCOA3,frameshift_variant,p.Leu121TrpfsTer8,ENST00000372004,;NCOA3,frameshift_variant,p.Leu121TrpfsTer8,ENST00000341724,;NCOA3,frameshift_variant,p.Leu121TrpfsTer8,ENST00000371998,;NCOA3,non_coding_transcript_exon_variant,,ENST00000497292,;NCOA3,downstream_gene_variant,,ENST00000490248,;RP5-1049G16.4,downstream_gene_variant,,ENST00000448675,;	552	148	295	SUCCESS
ATP9A	10079	.	GRCh37	20	50273555	50273555	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748710406	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	20	146	0	ENST00000338821.5:c.1428C>A	p.Asn476Lys	p.N476K	ENST00000338821	NM_006045.1	476	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS33489.1	1428	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGTTGGA	NONE	byFrequency	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00702,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000342481	.	14/28	.	.	.	.	.	.	.	.	rs748710406,COSM190656	14/28	nonpreferredpair	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.027)	.	tolerated(0.13)	0,1	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Asn476Lys,ENST00000338821,;ATP9A,missense_variant,p.Asn355Lys,ENST00000402822,;ATP9A,missense_variant,p.Asn340Lys,ENST00000311637,;	1693	146	190	SUCCESS
CDH26	60437	.	GRCh37	20	58533734	58533734	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	55	87	0	ENST00000348616.4:c.-48G>A		p.*16*	ENST00000348616	NM_177980.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13485.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGGACTG	NONE	.	.	.	.	.	ENSP00000339390	.	1/18	.	.	.	.	.	.	.	.	.	1/18	nonpreferredpair	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,5_prime_UTR_variant,,ENST00000244047,;CDH26,5_prime_UTR_variant,,ENST00000348616,;	253	87	133	SUCCESS
C20orf166-AS1	0	.	GRCh37	20	61143534	61143534	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs368429459	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	22	0	ENST00000412495.1:n.1112G>A		p.*371*	ENST00000412495				0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS46627.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCGTGTG	NONE	byFrequency|byCluster	4126	.	.	T:0.0001	ENSP00000359558	.	.	.	.	.	.	.	.	.	.	rs368429459	.	nonpreferredpair	ENST00000370527	Transcript	.	.	ENSG00000174407	16159	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT166_HUMAN	C20orf166	HGNC	.	.	UPI000012861B	SNV	C20orf166,upstream_gene_variant,,ENST00000370524,;C20orf166,upstream_gene_variant,,ENST00000370527,;C20orf166-AS1,non_coding_transcript_exon_variant,,ENST00000412495,;C20orf166-AS1,non_coding_transcript_exon_variant,,ENST00000475015,;C20orf166-AS1,downstream_gene_variant,,ENST00000436101,;	.	22	45	SUCCESS
KRTAP6-3	337968	.	GRCh37	21	31964987	31964987	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	11	147	0	ENST00000391624.1:c.202G>C	p.Gly68Arg	p.G68R	ENST00000391624	NM_181605.3	68	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	.	202	MUTECT|MUSE	.	ACAGAGGCCTG	BUFFER|p.D70H|c.208G>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF4,hmmpanther:PTHR31678	.	.	ENSP00000375482	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000391624	Transcript	.	.	ENSG00000212938	18933	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	KRA63_HUMAN	KRTAP6-3	HGNC	.	.	UPI00001A9E56	SNV	KRTAP6-3,missense_variant,p.Gly68Arg,ENST00000391624,;KRTAP22-2,upstream_gene_variant,,ENST00000382830,;AP001069.1,intron_variant,,ENST00000537053,;	229	147	150	SUCCESS
KRTAP6-3	337968	.	GRCh37	21	31964988	31964988	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	11	147	0	ENST00000391624.1:c.203G>C	p.Gly68Ala	p.G68A	ENST00000391624	NM_181605.3	68	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	.	203	MUTECT|MUSE	.	CAGAGGCCTGG	BUFFER|p.D70H|c.208G>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF4,hmmpanther:PTHR31678	.	.	ENSP00000375482	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000391624	Transcript	.	.	ENSG00000212938	18933	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	KRA63_HUMAN	KRTAP6-3	HGNC	.	.	UPI00001A9E56	SNV	KRTAP6-3,missense_variant,p.Gly68Ala,ENST00000391624,;KRTAP22-2,upstream_gene_variant,,ENST00000382830,;AP001069.1,intron_variant,,ENST00000537053,;	230	147	146	SUCCESS
SON	6651	.	GRCh37	21	34925635	34925635	+	synonymous_variant	Silent	SNP	C	C	T	rs550454473	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	82	0	ENST00000356577.4:c.4098C>T	p.Thr1366=	p.T1366=	ENST00000356577	NM_138927.2	1366	acC/acT	0	.	T:0.0008	.	T:0.0029	.	T	T	protein_coding	YES	CCDS13629.1	4098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCGTCCT	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813	T:0	.	ENSP00000348984	T:0.003	3/12	.	.	.	.	.	.	.	.	rs550454473	3/12	nonpreferredpair	ENST00000356577	Transcript	.	T:0.0012	ENSG00000159140	11183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SON_HUMAN	SON	HGNC	.	.	UPI0000140BFD	SNV	SON,synonymous_variant,p.%3D,ENST00000381679,;SON,synonymous_variant,p.%3D,ENST00000300278,;SON,synonymous_variant,p.%3D,ENST00000356577,;SON,synonymous_variant,p.%3D,ENST00000436227,;SON,synonymous_variant,p.%3D,ENST00000290239,;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000421541,;SON,synonymous_variant,p.%3D,ENST00000455528,;	4573	82	104	SUCCESS
PI4KAP1	728233	.	GRCh37	22	20385730	20385730	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	862	23	774	0	ENST00000437178.2:n.2166T>G		p.*722*	ENST00000437178				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	CTTCAAGAACT	NONE	.	.	.	.	.	.	.	15/17	.	.	.	.	.	.	.	.	.	15/17	nonpreferredpair	ENST00000437178	Transcript	.	.	ENSG00000215513	33576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PI4KAP1	HGNC	.	.	.	SNV	PI4KAP1,non_coding_transcript_exon_variant,,ENST00000430523,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000452435,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000452110,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000455715,;PI4KAP1,downstream_gene_variant,,ENST00000438765,;PI4KAP1,downstream_gene_variant,,ENST00000416922,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000400467,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000437178,;PI4KAP1,non_coding_transcript_exon_variant,,ENST00000544467,;	2166	774	885	SUCCESS
SEZ6L	23544	.	GRCh37	22	26706735	26706735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	55	123	0	ENST00000248933.6:c.1614C>A	p.Asn538Lys	p.N538K	ENST00000248933		538	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS13833.1	1614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAACACCAT	BUFFER|p.R541C|c.1621C>T|3	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS01180	.	.	ENSP00000248933	.	7/17	.	.	.	.	.	.	.	.	.	7/17	nonpreferredpair	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.27)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Asn538Lys,ENST00000529632,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000248933,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000360929,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000343706,;SEZ6L,missense_variant,p.Asn311Lys,ENST00000402979,;SEZ6L,missense_variant,p.Asn311Lys,ENST00000403121,;SEZ6L,missense_variant,p.Asn538Lys,ENST00000404234,;	1709	123	177	SUCCESS
NEFH	4744	.	GRCh37	22	29885446	29885446	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	54	147	0	ENST00000310624.6:c.1817C>A	p.Ser606Tyr	p.S606Y	ENST00000310624	NM_021076.3	606	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS13858.1	1817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214,Pfam_domain:PF07142	.	.	ENSP00000311997	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000310624	Transcript	.	.	ENSG00000100285	7737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	NFH_HUMAN	NEFH	HGNC	.	.	UPI00001AEF71	SNV	NEFH,missense_variant,p.Ser606Tyr,ENST00000310624,;	1850	147	187	SUCCESS
RAC2	5880	.	GRCh37	22	37627372	37627372	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs978951259	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	6	142	0	ENST00000249071.6:c.347A>G	p.Lys116Arg	p.K116R	ENST00000249071	NM_002872.4	116	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13945.1	347	MUTECT|MUSE	.	CCAGCTTGGTG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24072:SF104,hmmpanther:PTHR24072,PROSITE_profiles:PS51420	.	.	ENSP00000249071	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000249071	Transcript	.	.	ENSG00000128340	9802	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0)	.	RAC2_HUMAN	RAC2	HGNC	B1AH78_HUMAN,B1AH77_HUMAN	.	UPI00001110AB	SNV	RAC2,missense_variant,p.Lys109Arg,ENST00000405484,;RAC2,missense_variant,p.Lys116Arg,ENST00000249071,;RAC2,missense_variant,p.Lys116Arg,ENST00000441619,;RAC2,missense_variant,p.Lys72Arg,ENST00000406508,;RAC2,non_coding_transcript_exon_variant,,ENST00000481215,;RAC2,downstream_gene_variant,,ENST00000469532,;	469	142	153	SUCCESS
GRAMD4	23151	.	GRCh37	22	47073042	47073042	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	66	0	ENST00000361034.3:c.1633-2A>T		p.X545_splice	ENST00000361034	NM_015124.3	545		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33672.1	.	MUTECT|MUSE	.	CTGCCAGCCGC	NONE	.	.	.	.	.	ENSP00000385689	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000406902	Transcript	.	.	ENSG00000075240	29113	.	.	HIGH	18/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRAM4_HUMAN	GRAMD4	HGNC	.	.	UPI0000161A59	SNV	GRAMD4,splice_acceptor_variant,,ENST00000408031,;GRAMD4,splice_acceptor_variant,,ENST00000406902,;GRAMD4,splice_acceptor_variant,,ENST00000361034,;	.	66	81	SUCCESS
IL1RL2	8808	.	GRCh37	2	102836404	102836404	+	synonymous_variant	Silent	SNP	A	A	G	rs1388584938	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	57	91	0	ENST00000264257.2:c.918A>G	p.Lys306=	p.K306=	ENST00000264257	NM_003854.2	306	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS2056.1	918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAAATGGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,hmmpanther:PTHR11890:SF9,hmmpanther:PTHR11890	.	.	ENSP00000264257	.	8/12	.	.	.	.	.	.	.	.	.	8/12	nonpreferredpair	ENST00000264257	Transcript	.	.	ENSG00000115598	5999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ILRL2_HUMAN	IL1RL2	HGNC	C9K0I8_HUMAN	.	UPI000013D4ED	SNV	IL1RL2,synonymous_variant,p.%3D,ENST00000264257,;IL1RL2,synonymous_variant,p.%3D,ENST00000539491,;IL1RL2,synonymous_variant,p.%3D,ENST00000441515,;IL1RL2,non_coding_transcript_exon_variant,,ENST00000481806,;	1044	91	139	SUCCESS
THSD7B	80731	.	GRCh37	2	137990568	137990568	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756885295	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	80	210	0	ENST00000272643.3:c.2015C>T	p.Pro672Leu	p.P672L	ENST00000272643		672	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	2015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCTTGTT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000272643	.	8/28	.	.	.	.	.	.	.	.	rs756885295,COSM222707,COSM3566959	8/28	nonpreferredpair	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.607)	.	tolerated(0.17)	0,1,1	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Pro672Leu,ENST00000409968,;THSD7B,missense_variant,p.Pro641Leu,ENST00000413152,;THSD7B,missense_variant,p.Pro672Leu,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;	2015	210	314	SUCCESS
ACVR2A	92	.	GRCh37	2	148657133	148657133	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	28	0	ENST00000241416.7:c.370C>T	p.Gln124Ter	p.Q124*	ENST00000241416	NM_001616.4	124	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS33301.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACAGCGT	BUFFER|p.P125S|c.373C>T|4	.	.	hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64	.	.	ENSP00000241416	.	3/11	.	.	.	.	.	.	.	.	.	3/11	nonpreferredpair	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,stop_gained,p.Gln124Ter,ENST00000241416,;ACVR2A,stop_gained,p.Gln124Ter,ENST00000404590,;ACVR2A,stop_gained,p.Gln16Ter,ENST00000535787,;AC009480.3,non_coding_transcript_exon_variant,,ENST00000402410,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000462659,;ACVR2A,downstream_gene_variant,,ENST00000487959,;ACVR2A,downstream_gene_variant,,ENST00000465329,;	1006	28	47	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098968	178098968	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	37	0	ENST00000397062.3:c.77A>C	p.Gln26Pro	p.Q26P	ENST00000397062	NM_006164.4	26	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS42782.1	77	MUTECT|MUSE	.	TATCTTGCCTC	BUFFER|p.L30F|c.88C>T|6,BUFFER|p.D29G|c.86A>G|11,BUFFER|p.D29H|c.85G>C|12,BUFFER|p.D29N|c.85G>A|3,BUFFER|p.D29Y|c.85G>T|4,BUFFER|p.D27G|c.80A>G|3,BUFFER|p.W24C|c.72G>C|5	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM717622,COSM717621	2/5	nonpreferredpair	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Gln10Pro,ENST00000449627,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000423513,;NFE2L2,missense_variant,p.Gln26Pro,ENST00000397062,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000446151,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000588123,;NFE2L2,missense_variant,p.Gln25Pro,ENST00000586532,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000421929,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000464747,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000448782,;NFE2L2,missense_variant,p.Gln10Pro,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	632	37	59	SUCCESS
COL5A2	1290	.	GRCh37	2	189927932	189927932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	34	0	ENST00000374866.3:c.1835G>A	p.Gly612Glu	p.G612E	ENST00000374866	NM_000393.3	612	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33350.1	1835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCCGGGC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,Low_complexity_(Seg):seg	.	.	ENSP00000364000	.	27/54	.	.	.	.	.	.	.	.	.	27/54	nonpreferredpair	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,missense_variant,p.Gly612Glu,ENST00000374866,;COL5A2,upstream_gene_variant,,ENST00000470524,;	2110	34	37	SUCCESS
HIBCH	26275	.	GRCh37	2	191159323	191159323	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1430906931	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	46	0	ENST00000359678.5:c.253A>G	p.Ile85Val	p.I85V	ENST00000359678	NM_198047.2	85	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2304.1	253	RADIA|MUTECT|MUSE|VARSCANS	.	TATAATGATCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000352706	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000359678	Transcript	.	.	ENSG00000198130	4908	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	tolerated(0.08)	.	HIBCH_HUMAN	HIBCH	HGNC	B9A058_HUMAN	.	UPI000013F16E	SNV	HIBCH,missense_variant,p.Ile85Val,ENST00000359678,;HIBCH,missense_variant,p.Ile85Val,ENST00000392332,;HIBCH,missense_variant,p.Ile139Val,ENST00000409934,;HIBCH,upstream_gene_variant,,ENST00000392333,;	548	46	73	SUCCESS
PECR	55825	.	GRCh37	2	216946374	216946397	+	inframe_deletion	In_Frame_Del	DEL	CGATGCCCGTGGCCCCGCCGGTGA	CGATGCCCGTGGCCCCGCCGGTGA	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	CGATGCCCGTGGCCCCGCCGGTGA	CGATGCCCGTGGCCCCGCCGGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	97	56	128	0	ENST00000265322.7:c.68_91del	p.Val23_Ile30del	p.V23_I30del	ENST00000265322	NM_018441.5	23	gTCACCGGCGGGGCCACGGGCATCGga/gga	0	.	.	.	.	.	-	VTGGATGIG/G	protein_coding	YES	CCDS33375.1	68-91	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTCCGATGCCCGTGGCCCCGCCGGTGACGATG	NONE	.	.	hmmpanther:PTHR24317,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000265322	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000265322	Transcript	.	.	ENSG00000115425	18281	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PECR_HUMAN	PECR	HGNC	.	.	UPI000004C794	deletion	PECR,inframe_deletion,p.Val23_Ile30del,ENST00000265322,;TMEM169,upstream_gene_variant,,ENST00000406027,;TMEM169,upstream_gene_variant,,ENST00000295658,;TMEM169,upstream_gene_variant,,ENST00000433112,;TMEM169,upstream_gene_variant,,ENST00000454545,;TMEM169,upstream_gene_variant,,ENST00000455479,;TMEM169,upstream_gene_variant,,ENST00000437356,;PECR,non_coding_transcript_exon_variant,,ENST00000487318,;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,intron_variant,,ENST00000464722,;PECR,inframe_deletion,p.Val23_Ile30del,ENST00000442122,;PECR,non_coding_transcript_exon_variant,,ENST00000474093,;	143-166	128	153	SUCCESS
OBSL1	23363	.	GRCh37	2	220432567	220432567	+	synonymous_variant	Silent	SNP	C	C	A	rs761576373	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	97	196	2	ENST00000404537.1:c.1407G>T	p.Pro469=	p.P469=	ENST00000404537	NM_015311.2	469	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46520.1	1407	RADIA|SOMATICSNIPER|VARSCANS	.	ATGACCGGCAG	NONE	.	.	hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385636	.	3/21	.	.	.	.	.	.	.	.	rs761576373,COSM1326394	3/21	nonpreferredpair	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,synonymous_variant,p.%3D,ENST00000603926,;OBSL1,synonymous_variant,p.%3D,ENST00000289656,;OBSL1,synonymous_variant,p.%3D,ENST00000373876,;OBSL1,synonymous_variant,p.%3D,ENST00000265318,;OBSL1,synonymous_variant,p.%3D,ENST00000404537,;OBSL1,synonymous_variant,p.%3D,ENST00000373873,;INHA,upstream_gene_variant,,ENST00000243786,;INHA,upstream_gene_variant,,ENST00000489456,;OBSL1,downstream_gene_variant,,ENST00000465589,;OBSL1,downstream_gene_variant,,ENST00000491370,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000462385,;	1464	198	251	SUCCESS
TRIP12	9320	.	GRCh37	2	230632438	230632438	+	synonymous_variant	Silent	SNP	T	T	A	rs750607517	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	56	0	ENST00000283943.5:c.5811A>T	p.Thr1937=	p.T1937=	ENST00000283943	NM_004238.1	1937	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33391.1	5811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATTGTCAA	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50237	.	.	ENSP00000283943	.	41/41	.	.	.	.	.	.	.	.	rs750607517	41/41	nonpreferredpair	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000418123,;	5990	56	67	SUCCESS
ATG4B	23192	.	GRCh37	2	242592932	242592932	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	35	133	0	ENST00000404914.3:c.190A>G	p.Thr64Ala	p.T64A	ENST00000404914	NM_013325.4	64	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46564.1	190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGACAGGC	NONE	.	.	hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF39,Pfam_domain:PF03416,Superfamily_domains:SSF54001	.	.	ENSP00000384259	.	4/13	.	.	.	.	.	.	.	.	.	4/13	nonpreferredpair	ENST00000404914	Transcript	.	.	ENSG00000168397	20790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	ATG4B_HUMAN	ATG4B	HGNC	F8WD71_HUMAN,C9JVD5_HUMAN,C9J3C0_HUMAN,C9J1C1_HUMAN	.	UPI00001AF16F	SNV	ATG4B,missense_variant,p.Thr50Ala,ENST00000474739,;ATG4B,missense_variant,p.Thr64Ala,ENST00000404914,;ATG4B,missense_variant,p.Thr64Ala,ENST00000425239,;ATG4B,missense_variant,p.Thr64Ala,ENST00000400771,;ATG4B,missense_variant,p.Thr64Ala,ENST00000405546,;ATG4B,5_prime_UTR_variant,,ENST00000419606,;ATG4B,5_prime_UTR_variant,,ENST00000396411,;ATG4B,5_prime_UTR_variant,,ENST00000402096,;ATG4B,5_prime_UTR_variant,,ENST00000429899,;ATG4B,5_prime_UTR_variant,,ENST00000430617,;ATG4B,downstream_gene_variant,,ENST00000491867,;ATG4B,3_prime_UTR_variant,,ENST00000415107,;ATG4B,3_prime_UTR_variant,,ENST00000344376,;ATG4B,3_prime_UTR_variant,,ENST00000400772,;ATG4B,non_coding_transcript_exon_variant,,ENST00000475195,;ATG4B,non_coding_transcript_exon_variant,,ENST00000479554,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;	293	133	177	SUCCESS
LTBP1	4052	.	GRCh37	2	33246001	33246001	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	94	0	ENST00000404816.2:c.591T>C	p.Asn197=	p.N197=	ENST00000404816		197	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS33177.2	591	MUTECT|MUSE	.	CAGAATGGAGG	NONE	.	.	PROSITE_profiles:PS50026,SMART_domains:SM00181	.	.	ENSP00000386043	.	3/34	.	.	.	.	.	.	.	.	.	3/34	nonpreferredpair	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,synonymous_variant,p.%3D,ENST00000404816,;LTBP1,synonymous_variant,p.%3D,ENST00000354476,;	944	94	116	SUCCESS
SOS1	6654	.	GRCh37	2	39249927	39249927	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs397517149	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	72	0	ENST00000402219.2:c.1642A>G	p.Ser548Gly	p.S548G	ENST00000402219	NM_005633.3	548	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS1802.1	1642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TGTACTCCGGT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113	.	.	ENSP00000387784	.	11/24	.	.	.	.	.	.	.	.	rs397517149,CM070280	11/24	nonpreferredpair	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.074)	.	deleterious(0.02)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Ser548Gly,ENST00000395038,;SOS1,missense_variant,p.Ser548Gly,ENST00000426016,;SOS1,missense_variant,p.Ser548Gly,ENST00000402219,;SOS1,downstream_gene_variant,,ENST00000428721,;SOS1,downstream_gene_variant,,ENST00000472480,;SOS1,downstream_gene_variant,,ENST00000461545,;	1729	72	108	SUCCESS
NRXN1	9378	.	GRCh37	2	50464017	50464017	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	59	166	0	ENST00000406316.2:c.3456G>T	p.Leu1152=	p.L1152=	ENST00000406316	NM_004801.4	1152	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46282.1	3576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCAGTCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	19/24	.	.	.	.	.	.	.	.	COSM354301,COSM354303,COSM354302	19/24	nonpreferredpair	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000401710,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000342183,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;	4916	166	227	SUCCESS
B3GNT2	10678	.	GRCh37	2	62449528	62449528	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	80	0	ENST00000301998.4:c.173A>T	p.Tyr58Phe	p.Y58F	ENST00000301998	NM_006577.5	58	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS1870.1	173	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATACTGGA	NONE	.	.	hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF25	.	.	ENSP00000305595	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000301998	Transcript	.	.	ENSG00000170340	15629	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.53)	.	B3GN2_HUMAN	B3GNT2	HGNC	.	.	UPI00000009FB	SNV	B3GNT2,missense_variant,p.Tyr58Phe,ENST00000405767,;B3GNT2,missense_variant,p.Tyr58Phe,ENST00000301998,;	425	80	104	SUCCESS
AUP1	550	.	GRCh37	2	74754135	74754135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	65	0	ENST00000377526.3:c.1129A>G	p.Lys377Glu	p.K377E	ENST00000377526	NM_181575.3	377	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS42702.1	1129	MUTECT|MUSE	.	AGACTTGGCAA	NONE	.	.	hmmpanther:PTHR15486	.	.	ENSP00000366748	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000377526	Transcript	.	.	ENSG00000115307	891	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0.01)	.	AUP1_HUMAN	AUP1	HGNC	.	.	UPI000000163A	SNV	AUP1,missense_variant,p.Lys377Glu,ENST00000377526,;HTRA2,upstream_gene_variant,,ENST00000352222,;HTRA2,upstream_gene_variant,,ENST00000258080,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;HTRA2,upstream_gene_variant,,ENST00000437202,;DQX1,upstream_gene_variant,,ENST00000451518,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;HTRA2,upstream_gene_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000495597,;AUP1,3_prime_UTR_variant,,ENST00000425118,;AUP1,non_coding_transcript_exon_variant,,ENST00000463900,;AUP1,non_coding_transcript_exon_variant,,ENST00000486234,;AUP1,non_coding_transcript_exon_variant,,ENST00000466894,;HTRA2,upstream_gene_variant,,ENST00000484352,;HTRA2,upstream_gene_variant,,ENST00000465521,;DQX1,upstream_gene_variant,,ENST00000483555,;DQX1,upstream_gene_variant,,ENST00000473508,;AUP1,downstream_gene_variant,,ENST00000462297,;HTRA2,upstream_gene_variant,,ENST00000482205,;DQX1,upstream_gene_variant,,ENST00000418139,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,downstream_gene_variant,,ENST00000464887,;AUP1,downstream_gene_variant,,ENST00000472800,;	1439	65	94	SUCCESS
PROM2	150696	.	GRCh37	2	95954033	95954033	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	51	0	ENST00000317620.9:c.2319G>A	p.Met773Ile	p.M773I	ENST00000317620	NM_001165978.1	773	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2012.1	2319	MUTECT|MUSE	.	GACATGATGGC	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	.	.	ENSP00000318270	.	21/24	.	.	.	.	.	.	.	.	COSM3584001	21/24	nonpreferredpair	ENST00000317620	Transcript	.	.	ENSG00000155066	20685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.412)	.	tolerated(0.36)	1	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,missense_variant,p.Met773Ile,ENST00000317620,;PROM2,missense_variant,p.Met724Ile,ENST00000542147,;PROM2,missense_variant,p.Met773Ile,ENST00000403131,;PROM2,missense_variant,p.Met773Ile,ENST00000317668,;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,downstream_gene_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	2452	51	73	SUCCESS
KIAA1407	0	.	GRCh37	3	113753775	113753775	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	82	0	ENST00000295878.3:c.815A>C	p.Lys272Thr	p.K272T	ENST00000295878	NM_020817.1	272	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS2977.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTTTCCAT	NONE	.	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.875)	.	deleterious(0.01)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Lys259Thr,ENST00000491000,;KIAA1407,missense_variant,p.Lys103Thr,ENST00000545063,;KIAA1407,missense_variant,p.Lys272Thr,ENST00000295878,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,downstream_gene_variant,,ENST00000483766,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;KIAA1407,downstream_gene_variant,,ENST00000463695,;	962	82	98	SUCCESS
PARP14	54625	.	GRCh37	3	122418685	122418685	+	synonymous_variant	Silent	SNP	A	A	T	rs766825947	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	86	1	ENST00000474629.2:c.1284A>T	p.Thr428=	p.T428=	ENST00000474629	NM_017554.2	428	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46894.1	1284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACACTTAA	NONE	byFrequency	.	hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453	.	.	ENSP00000418194	.	6/17	.	.	.	.	.	.	.	.	rs766825947	6/17	nonpreferredpair	ENST00000474629	Transcript	.	.	ENSG00000173193	29232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR14_HUMAN	PARP14	HGNC	.	.	UPI00015A20AB	SNV	PARP14,synonymous_variant,p.%3D,ENST00000474629,;PARP14,downstream_gene_variant,,ENST00000494811,;PARP14,synonymous_variant,p.%3D,ENST00000460683,;PARP14,upstream_gene_variant,,ENST00000474669,;	1550	87	127	SUCCESS
ITGB5	3693	.	GRCh37	3	124592297	124592297	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	7	118	0	ENST00000296181.4:c.152A>G	p.Lys51Arg	p.K51R	ENST00000296181	NM_002213.3	51	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3030.1	152	MUTECT|MUSE	.	CCTCTTTGGAG	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000296181	.	2/15	.	.	.	.	.	.	.	.	.	2/15	nonpreferredpair	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.08)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Lys51Arg,ENST00000296181,;ITGB5,5_prime_UTR_variant,,ENST00000608657,;ITGB5,5_prime_UTR_variant,,ENST00000608107,;ITGB5,5_prime_UTR_variant,,ENST00000483168,;ITGB5,5_prime_UTR_variant,,ENST00000465464,;	449	118	146	SUCCESS
ATP13A5	344905	.	GRCh37	3	193029676	193029676	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760725199	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	25	114	0	ENST00000342358.4:c.2374T>C	p.Cys792Arg	p.C792R	ENST00000342358	NM_198505.2	792	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS33914.1	2374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACAGCTTC	NONE	byFrequency	.	Pfam_domain:PF12710,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093	.	.	ENSP00000341942	.	20/30	.	.	.	.	.	.	.	.	rs760725199,COSM729943	20/30	nonpreferredpair	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.102)	.	tolerated(0.55)	0,1	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,missense_variant,p.Cys792Arg,ENST00000342358,;ATP13A5-AS1,intron_variant,,ENST00000414634,;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;ATP13A5,downstream_gene_variant,,ENST00000488957,;	2492	114	159	SUCCESS
NRROS	375387	.	GRCh37	3	196387008	196387008	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1314586426	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	43	63	1	ENST00000328557.4:c.494C>T	p.Ala165Val	p.A165V	ENST00000328557	NM_198565.1	165	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3319.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGGGGA	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF245,PROSITE_profiles:PS51450	.	.	ENSP00000328625	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000328557	Transcript	.	.	ENSG00000174004	24613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	deleterious(0.02)	.	NRROS_HUMAN	NRROS	HGNC	.	.	UPI000000DA7E	SNV	NRROS,missense_variant,p.Ala165Val,ENST00000328557,;PIGX,intron_variant,,ENST00000426755,;	697	64	79	SUCCESS
DLEC1	9940	.	GRCh37	3	38138132	38138132	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	80	0	ENST00000308059.6:c.2244A>T	p.Lys748Asn	p.K748N	ENST00000308059		748	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2672.2	2244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAAGGCTC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	15/37	.	.	.	.	.	.	.	.	.	15/37	nonpreferredpair	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Lys748Asn,ENST00000308059,;DLEC1,missense_variant,p.Lys748Asn,ENST00000346219,;DLEC1,missense_variant,p.Lys748Asn,ENST00000452631,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;DLEC1,downstream_gene_variant,,ENST00000447130,;	2265	80	123	SUCCESS
SCN5A	6331	.	GRCh37	3	38622799	38622799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	251	26	222	0	ENST00000333535.4:c.2851G>A	p.Asp951Asn	p.D951N	ENST00000333535		951	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS46799.1	2851	RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCAGGGG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178	.	.	ENSP00000410257	.	17/28	.	.	.	.	.	.	.	.	.	17/28	nonpreferredpair	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.566)	.	deleterious(0.02)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Asp951Asn,ENST00000449557,;SCN5A,missense_variant,p.Asp951Asn,ENST00000413689,;SCN5A,missense_variant,p.Asp951Asn,ENST00000423572,;SCN5A,missense_variant,p.Asp951Asn,ENST00000425664,;SCN5A,missense_variant,p.Asp951Asn,ENST00000414099,;SCN5A,missense_variant,p.Asp951Asn,ENST00000451551,;SCN5A,missense_variant,p.Asp951Asn,ENST00000450102,;SCN5A,missense_variant,p.Asp951Asn,ENST00000333535,;SCN5A,missense_variant,p.Asp951Asn,ENST00000455624,;SCN5A,missense_variant,p.Asp951Asn,ENST00000443581,;	3045	222	277	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	77	214	0	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS2694.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCATTCTG	SITE|p.H36P|c.107A>C|34,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.H36Y|c.106C>T|5,CODON|p.H36R|c.107A>G|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5678,COSM27378	3/15	nonpreferredpair	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.397)	.	deleterious(0.04)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	387	214	261	SUCCESS
CHL1	10752	.	GRCh37	3	433400	433400	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	49	0	ENST00000397491.2:c.2786A>C	p.Lys929Thr	p.K929T	ENST00000397491		929	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS2556.1	2834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATAAAGACA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000256509	.	23/28	.	.	.	.	.	.	.	.	.	23/28	nonpreferredpair	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	tolerated(0.06)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Lys929Thr,ENST00000397491,;CHL1,missense_variant,p.Lys132Thr,ENST00000445697,;CHL1,missense_variant,p.Lys945Thr,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000470880,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	3476	49	60	SUCCESS
DHX30	22907	.	GRCh37	3	47888778	47888778	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753357583	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	243	17	168	0	ENST00000445061.1:c.1945G>A	p.Ala649Thr	p.A649T	ENST00000445061	NM_138615.2	649	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2759.1	1945	MUTECT|MUSE	.	AATGCGCACTC	BUFFER|p.D651N|c.1951G>A|3	byFrequency	.	Superfamily_domains:SSF52540,hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934	.	.	ENSP00000405620	.	12/22	.	.	.	.	.	.	.	.	rs753357583,COSM1692724	12/22	nonpreferredpair	ENST00000445061	Transcript	.	.	ENSG00000132153	16716	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.003)	.	tolerated(0.48)	0,1	DHX30_HUMAN	DHX30	HGNC	H7BXY3_HUMAN	.	UPI000007112B	SNV	DHX30,missense_variant,p.Ala621Thr,ENST00000348968,;DHX30,missense_variant,p.Ala677Thr,ENST00000457607,;DHX30,missense_variant,p.Ala610Thr,ENST00000446256,;DHX30,missense_variant,p.Ala649Thr,ENST00000445061,;MAP4,downstream_gene_variant,,ENST00000426837,;MAP4,downstream_gene_variant,,ENST00000360240,;MAP4,downstream_gene_variant,,ENST00000264724,;MAP4,downstream_gene_variant,,ENST00000420772,;MAP4,downstream_gene_variant,,ENST00000429422,;MAP4,downstream_gene_variant,,ENST00000395734,;MAP4,downstream_gene_variant,,ENST00000383737,;MIR1226,upstream_gene_variant,,ENST00000408658,;DHX30,downstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,downstream_gene_variant,,ENST00000441384,;DHX30,upstream_gene_variant,,ENST00000474183,;	2352	168	260	SUCCESS
ITIH1	3697	.	GRCh37	3	52824922	52824922	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1578744591	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	42	121	1	ENST00000273283.2:c.2479A>G	p.Thr827Ala	p.T827A	ENST00000273283	NM_002215.3	827	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2864.1	2479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGACGCAC	NONE	.	.	Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106	.	.	ENSP00000273283	.	20/22	.	.	.	.	.	.	.	.	.	20/22	nonpreferredpair	ENST00000273283	Transcript	.	.	ENSG00000055957	6166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	ITIH1_HUMAN	ITIH1	HGNC	.	.	UPI000012DA1C	SNV	ITIH1,missense_variant,p.Thr539Ala,ENST00000537050,;ITIH1,missense_variant,p.Thr827Ala,ENST00000273283,;ITIH1,missense_variant,p.Thr380Ala,ENST00000428133,;ITIH1,missense_variant,p.Thr193Ala,ENST00000405128,;ITIH1,missense_variant,p.Thr685Ala,ENST00000540715,;ITIH1,3_prime_UTR_variant,,ENST00000542827,;ITIH3,upstream_gene_variant,,ENST00000416872,;ITIH3,upstream_gene_variant,,ENST00000449956,;ITIH1,non_coding_transcript_exon_variant,,ENST00000494705,;ITIH3,upstream_gene_variant,,ENST00000467268,;ITIH1,downstream_gene_variant,,ENST00000482836,;ITIH1,downstream_gene_variant,,ENST00000484844,;	2503	122	142	SUCCESS
SYNPR	132204	.	GRCh37	3	63594864	63594864	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1002535187	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	59	174	1	ENST00000295894.5:c.412G>A	p.Gly138Arg	p.G138R	ENST00000295894	NM_144642.4	138	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46859.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGGACTG	NONE	.	.	PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF16,Pfam_domain:PF01284	.	.	ENSP00000418994	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000478300	Transcript	.	.	ENSG00000163630	16507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	SYNPR_HUMAN	SYNPR	HGNC	B7Z9J3_HUMAN	.	UPI00005796D8	SNV	SYNPR,missense_variant,p.Gly149Arg,ENST00000460711,;SYNPR,missense_variant,p.Gly138Arg,ENST00000295894,;SYNPR,missense_variant,p.Gly138Arg,ENST00000479198,;SYNPR,missense_variant,p.Gly158Arg,ENST00000478300,;SYNPR,intron_variant,,ENST00000465156,;SYNPR,non_coding_transcript_exon_variant,,ENST00000493532,;SYNPR,non_coding_transcript_exon_variant,,ENST00000478744,;SYNPR,3_prime_UTR_variant,,ENST00000450542,;SYNPR,3_prime_UTR_variant,,ENST00000468110,;SYNPR,3_prime_UTR_variant,,ENST00000498449,;	883	175	198	SUCCESS
QRFPR	84109	.	GRCh37	4	122301704	122301704	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	76	1	ENST00000394427.2:c.99G>C	p.Pro33=	p.P33=	ENST00000394427	NM_198179.2	33	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3719.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGCGGTCG	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65	.	.	ENSP00000377948	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,synonymous_variant,p.%3D,ENST00000394427,;QRFPR,synonymous_variant,p.%3D,ENST00000334383,;QRFPR,synonymous_variant,p.%3D,ENST00000507331,;QRFPR,non_coding_transcript_exon_variant,,ENST00000512235,;	511	77	71	SUCCESS
BBS7	55212	.	GRCh37	4	122747089	122747089	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	26	0	ENST00000264499.4:c.2074A>G	p.Lys692Glu	p.K692E	ENST00000264499	NM_176824.2	692	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3724.1	2074	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTTAGTTT	NONE	.	.	hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091	.	.	ENSP00000264499	.	19/19	.	.	.	.	.	.	.	.	.	19/19	nonpreferredpair	ENST00000264499	Transcript	1	.	ENSG00000138686	18758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.234)	.	deleterious(0.01)	.	BBS7_HUMAN	BBS7	HGNC	H0Y973_HUMAN	.	UPI00001684D7	SNV	BBS7,missense_variant,p.Lys692Glu,ENST00000264499,;BBS7,missense_variant,p.Lys115Glu,ENST00000507814,;BBS7,downstream_gene_variant,,ENST00000506636,;CCNA2,upstream_gene_variant,,ENST00000274026,;	2258	26	33	SUCCESS
FAM218A	152756	.	GRCh37	4	165878425	165878425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	105	278	0	ENST00000513876.2:c.251T>C	p.Phe84Ser	p.F84S	ENST00000513876	NM_153027.1	84	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS3807.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTTCTCCG	NONE	.	.	.	.	.	ENSP00000427428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000513876	Transcript	.	.	ENSG00000250486	26466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious_low_confidence(0)	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,missense_variant,p.Phe84Ser,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	326	279	340	SUCCESS
PDCL2	132954	.	GRCh37	4	56422846	56422846	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	57	0	ENST00000295645.4:c.604A>T	p.Ile202Leu	p.I202L	ENST00000295645	NM_152401.2	202	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS47059.1	604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTATTGCTC	NONE	.	.	hmmpanther:PTHR21148:SF18,hmmpanther:PTHR21148,Gene3D:3.40.30.10,Pfam_domain:PF02114,Superfamily_domains:SSF52833	.	.	ENSP00000295645	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000295645	Transcript	.	.	ENSG00000163440	29524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	tolerated(0.09)	.	PDCL2_HUMAN	PDCL2	HGNC	.	.	UPI000020B8D5	SNV	PDCL2,missense_variant,p.Ile202Leu,ENST00000295645,;	707	57	78	SUCCESS
ALB	213	.	GRCh37	4	74283832	74283834	+	inframe_deletion	In_Frame_Del	DEL	GTG	GTG	-	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	GTG	GTG	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	79	0	ENST00000295897.4:c.1456_1458del	p.Val486del	p.V486del	ENST00000295897	NM_000477.5	486	GTG/-	0	.	.	.	.	.	-	V/-	protein_coding	YES	CCDS3555.1	1456-1458	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATGTGTGTTGCA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,inframe_deletion,p.Val486del,ENST00000509063,;ALB,inframe_deletion,p.Val331del,ENST00000511370,;ALB,inframe_deletion,p.Val294del,ENST00000415165,;ALB,inframe_deletion,p.Val486del,ENST00000295897,;ALB,inframe_deletion,p.Val336del,ENST00000503124,;ALB,inframe_deletion,p.Val371del,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1545-1547	79	87	SUCCESS
NUDT12	83594	.	GRCh37	5	102895039	102895039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	31	95	1	ENST00000230792.2:c.337G>A	p.Glu113Lys	p.E113K	ENST00000230792	NM_031438.2	113	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4096.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCATTCG	NONE	.	.	.	.	.	ENSP00000230792	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,missense_variant,p.Glu95Lys,ENST00000507423,;NUDT12,missense_variant,p.Glu113Lys,ENST00000230792,;NUDT12,upstream_gene_variant,,ENST00000515407,;NUDT12,downstream_gene_variant,,ENST00000508889,;	434	96	132	SUCCESS
MARCH6	0	.	GRCh37	5	10403536	10403536	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	10	105	0	ENST00000274140.5:c.1215T>A	p.Thr405=	p.T405=	ENST00000274140	NM_005885.3	405	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34135.1	1215	MUTECT|MUSE	.	GCTACTCTGAA	NONE	.	.	hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	15/26	.	.	.	.	.	.	.	.	.	15/26	nonpreferredpair	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,synonymous_variant,p.%3D,ENST00000449913,;MARCH6,synonymous_variant,p.%3D,ENST00000510792,;MARCH6,synonymous_variant,p.%3D,ENST00000274140,;MARCH6,synonymous_variant,p.%3D,ENST00000503788,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,downstream_gene_variant,,ENST00000514961,;	1347	105	150	SUCCESS
FBN2	2201	.	GRCh37	5	127674670	127674670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	264	17	212	0	ENST00000262464.4:c.3427T>C	p.Phe1143Leu	p.F1143L	ENST00000262464	NM_001999.3	1143	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS34222.1	3427	MUTECT|MUSE	.	TTCGAAGCACT	BUFFER|p.E1144K|c.3430G>A|3	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	32/71	.	.	.	.	.	.	.	.	.	32/71	nonpreferredpair	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.267)	.	tolerated(0.21)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Phe1143Leu,ENST00000262464,;FBN2,missense_variant,p.Phe1143Leu,ENST00000508053,;FBN2,missense_variant,p.Phe1110Leu,ENST00000508989,;FBN2,5_prime_UTR_variant,,ENST00000507835,;	4402	212	282	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140856170	140856170	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	20	200	0	ENST00000308177.3:c.487G>T	p.Asp163Tyr	p.D163Y	ENST00000308177	NM_002588.2	163	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4261.1	487	MUTECT|MUSE|VARSCANS	.	ATCCCGATGTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	COSM420860,COSM420861	1/4	nonpreferredpair	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	SNV	PCDHGC3,missense_variant,p.Asp163Tyr,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	591	200	236	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159797621	159797621	+	synonymous_variant	Silent	SNP	C	C	A	rs766542748	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	24	0	ENST00000393975.3:c.24G>T	p.Pro8=	p.P8=	ENST00000393975	NM_031908.4	8	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4351.2	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTCGGCCC	NONE	byFrequency	.	.	.	.	ENSP00000377545	.	1/3	.	.	.	.	.	.	.	.	rs766542748	1/3	nonpreferredpair	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,synonymous_variant,p.%3D,ENST00000393975,;	28	24	33	SUCCESS
HK3	3101	.	GRCh37	5	176318451	176318451	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753665029	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	10	95	0	ENST00000292432.5:c.197C>T	p.Ala66Val	p.A66V	ENST00000292432	NM_002115.2	66	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4407.1	197	MUTECT|MUSE	.	GGCTGGCCTGT	NONE	.	.	Pfam_domain:PF00349,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	3/19	.	.	.	.	.	.	.	.	rs753665029	3/19	nonpreferredpair	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	deleterious(0.02)	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,missense_variant,p.Ala66Val,ENST00000292432,;HK3,missense_variant,p.Ala30Val,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000504910,;HK3,upstream_gene_variant,,ENST00000506834,;	289	95	128	SUCCESS
DBN1	1627	.	GRCh37	5	176885388	176885388	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs142184479	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	73	165	1	ENST00000309007.5:c.1447G>T	p.Gly483Trp	p.G483W	ENST00000309007	NM_004395.3	483	Ggg/Tgg	0	T:0	.	.	.	.	A	G/W	protein_coding	YES	CCDS4421.1	1453	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCGTTGC	NONE	byCluster	.	hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829	.	T:0.0001	ENSP00000292385	.	13/15	.	.	.	.	.	.	.	.	rs142184479	13/15	nonpreferredpair	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Gly483Trp,ENST00000309007,;DBN1,missense_variant,p.Gly215Trp,ENST00000393563,;DBN1,missense_variant,p.Gly485Trp,ENST00000292385,;DBN1,missense_variant,p.Gly529Trp,ENST00000393565,;DBN1,missense_variant,p.Gly215Trp,ENST00000512501,;PRR7,downstream_gene_variant,,ENST00000323249,;PRR7,downstream_gene_variant,,ENST00000510492,;PRR7,downstream_gene_variant,,ENST00000502922,;DBN1,downstream_gene_variant,,ENST00000477391,;PRR7,downstream_gene_variant,,ENST00000507881,;DBN1,non_coding_transcript_exon_variant,,ENST00000467054,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;	2063	166	185	SUCCESS
OR2Y1	134083	.	GRCh37	5	180166721	180166721	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	9	93	0	ENST00000307832.2:c.338T>G	p.Val113Gly	p.V113G	ENST00000307832	NM_001001657.1	113	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS34323.1	338	MUTECT|MUSE	.	GGAGCACACAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000312403	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000307832	Transcript	.	.	ENSG00000174339	14837	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	OR2Y1_HUMAN	OR2Y1	HGNC	.	.	UPI0000041BCE	SNV	OR2Y1,missense_variant,p.Val113Gly,ENST00000307832,;	379	93	129	SUCCESS
TAAR9	134860	.	GRCh37	6	132859671	132859671	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	108	193	0	ENST00000434551.1:c.243G>C	p.Val81=	p.V81=	ENST00000434551	NM_175057.3	81	gtG/gtC	0	.	.	.	.	.	C	V	polymorphic_pseudogene	YES	.	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGGGAGT	NONE	.	.	.	.	.	ENSP00000424607	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000434551	Transcript	.	.	ENSG00000237110	20977	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TAAR9	HGNC	.	.	.	SNV	TAAR9,synonymous_variant,p.%3D,ENST00000434551,;	243	193	293	SUCCESS
OLIG3	167826	.	GRCh37	6	137815097	137815097	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	6	86	0	ENST00000367734.2:c.211A>G	p.Lys71Glu	p.K71E	ENST00000367734	NM_175747.2	71	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS5186.1	211	MUTECT|MUSE	.	GATTTTGTACT	NONE	.	.	hmmpanther:PTHR19290:SF89,hmmpanther:PTHR19290	.	.	ENSP00000356708	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000367734	Transcript	.	.	ENSG00000177468	18003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	OLIG3_HUMAN	OLIG3	HGNC	.	.	UPI000006F9D6	SNV	OLIG3,missense_variant,p.Lys71Glu,ENST00000367734,;	435	86	123	SUCCESS
HIST1H1B	0	.	GRCh37	6	27834746	27834746	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs745570564	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	109	0	ENST00000331442.3:c.562A>G	p.Lys188Glu	p.K188E	ENST00000331442	NM_005322.2	188	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4635.1	562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTGGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF24,hmmpanther:PTHR11467	.	.	ENSP00000330074	.	1/1	.	.	.	.	.	.	.	.	rs745570564	1/1	nonpreferredpair	ENST00000331442	Transcript	.	.	ENSG00000184357	4719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	H15_HUMAN	HIST1H1B	HGNC	.	.	UPI0000001BDA	SNV	HIST1H1B,missense_variant,p.Lys188Glu,ENST00000331442,;HIST1H2AL,downstream_gene_variant,,ENST00000357320,;HIST1H3I,downstream_gene_variant,,ENST00000328488,;HIST1H2BPS2,upstream_gene_variant,,ENST00000402707,;	614	109	119	SUCCESS
TNXB	7148	.	GRCh37	6	32036335	32036335	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	33	190	0	ENST00000375244.3:c.6052C>G	p.Leu2018Val	p.L2018V	ENST00000375244		2018	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	.	.	6052	RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGAAGT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	17/44	.	.	.	.	.	.	.	.	.	17/44	nonpreferredpair	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.Leu2018Val,ENST00000375247,;TNXB,missense_variant,p.Leu2018Val,ENST00000375244,;	6254	190	210	SUCCESS
NFYA	4800	.	GRCh37	6	41048594	41048594	+	synonymous_variant	Silent	SNP	G	G	A	rs771405179	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	75	0	ENST00000341376.6:c.120G>A	p.Gln40=	p.Q40=	ENST00000341376	NM_002505.4	40	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS4849.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12632	.	.	ENSP00000345702	.	3/10	.	.	.	.	.	.	.	.	rs771405179	3/10	nonpreferredpair	ENST00000341376	Transcript	.	.	ENSG00000001167	7804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFYA_HUMAN	NFYA	HGNC	K9JA49_HUMAN	.	UPI000012717C	SNV	NFYA,synonymous_variant,p.%3D,ENST00000341376,;OARD1,intron_variant,,ENST00000488238,;NFYA,intron_variant,,ENST00000353205,;OARD1,intron_variant,,ENST00000480585,;	321	75	118	SUCCESS
AARS2	57505	.	GRCh37	6	44273478	44273478	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	224	79	250	0	ENST00000244571.4:c.1346C>T	p.Pro449Leu	p.P449L	ENST00000244571	NM_020745.3	449	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34464.1	1346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGGGAGT	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344,Superfamily_domains:0049182	.	.	ENSP00000244571	.	10/22	.	.	.	.	.	.	.	.	.	10/22	nonpreferredpair	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,missense_variant,p.Pro449Leu,ENST00000244571,;TMEM151B,intron_variant,,ENST00000438774,;AARS2,upstream_gene_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	1349	250	304	SUCCESS
DOPEY1	0	.	GRCh37	6	83866961	83866961	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	84	0	ENST00000349129.2:c.6665T>C	p.Leu2222Pro	p.L2222P	ENST00000349129	NM_015018.3	2222	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4996.1	6665	MUTECT|MUSE	.	GTTCCTGTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	.	ENSP00000195654	.	35/39	.	.	.	.	.	.	.	.	.	35/39	nonpreferredpair	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,missense_variant,p.Leu2213Pro,ENST00000369739,;DOPEY1,missense_variant,p.Leu2222Pro,ENST00000349129,;DOPEY1,intron_variant,,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000481979,;PGM3,downstream_gene_variant,,ENST00000504780,;	6925	84	92	SUCCESS
ZAN	7455	.	GRCh37	7	100364744	100364744	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	22	132	0	ENST00000546292.1:c.4724G>T	p.Arg1575Met	p.R1575M	ENST00000546292	NM_173059.1	1575	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	.	4724	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGGTCCC	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000445943	.	24/46	.	.	.	.	.	.	.	.	COSM1083057,COSM1083058,COSM1596558	24/46	nonpreferredpair	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	unknown(0)	.	.	1,1,1	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Arg152Met,ENST00000546213,;ZAN,missense_variant,p.Arg1575Met,ENST00000546292,;ZAN,missense_variant,p.Arg1575Met,ENST00000542585,;ZAN,missense_variant,p.Arg1575Met,ENST00000538115,;ZAN,missense_variant,p.Arg1575Met,ENST00000421100,;ZAN,missense_variant,p.Arg1575Met,ENST00000349350,;ZAN,missense_variant,p.Arg1575Met,ENST00000427578,;ZAN,missense_variant,p.Arg1575Met,ENST00000348028,;ZAN,missense_variant,p.Arg1575Met,ENST00000449052,;ZAN,missense_variant,p.Arg1575Met,ENST00000443370,;	4872	132	182	SUCCESS
PSMC2	5701	.	GRCh37	7	102988211	102988211	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	68	96	0	ENST00000292644.3:c.53A>C	p.Asp18Ala	p.D18A	ENST00000292644		18	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS5731.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGACGACA	NONE	.	.	hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF13	.	.	ENSP00000391211	.	2/13	.	.	.	.	.	.	.	.	.	2/13	nonpreferredpair	ENST00000435765	Transcript	.	.	ENSG00000161057	9548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.16)	.	PRS7_HUMAN	PSMC2	HGNC	Q75L23_HUMAN,C9JLS9_HUMAN,B7Z5E2_HUMAN	.	UPI000013237A	SNV	PSMC2,missense_variant,p.Asp18Ala,ENST00000435765,;PSMC2,missense_variant,p.Asp18Ala,ENST00000292644,;PSMC2,missense_variant,p.Asp18Ala,ENST00000457587,;PSMC2,missense_variant,p.Asp18Ala,ENST00000425206,;PSMC2,5_prime_UTR_variant,,ENST00000544811,;SLC26A5,downstream_gene_variant,,ENST00000339444,;DNAJC2,upstream_gene_variant,,ENST00000249270,;DNAJC2,upstream_gene_variant,,ENST00000379263,;DNAJC2,upstream_gene_variant,,ENST00000454277,;SLC26A5,downstream_gene_variant,,ENST00000393735,;DNAJC2,upstream_gene_variant,,ENST00000412522,;SLC26A5,downstream_gene_variant,,ENST00000356767,;DNAJC2,upstream_gene_variant,,ENST00000426036,;DNAJC2,upstream_gene_variant,,ENST00000464253,;DNAJC2,upstream_gene_variant,,ENST00000379257,;CTA-276O3.4,upstream_gene_variant,,ENST00000452798,;	464	97	161	SUCCESS
DOCK4	9732	.	GRCh37	7	111517084	111517084	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	49	0	ENST00000437633.1:c.1744+2T>C		p.X582_splice	ENST00000437633	NM_014705.3	582		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47688.1	.	MUTECT|MUSE	.	ACATTACCATT	NONE	.	.	.	.	.	ENSP00000404179	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	HIGH	17/51	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,splice_donor_variant,,ENST00000445943,;DOCK4,splice_donor_variant,,ENST00000428084,;DOCK4,splice_donor_variant,,ENST00000423057,;DOCK4,splice_donor_variant,,ENST00000437633,;DOCK4,splice_donor_variant,,ENST00000476846,;DOCK4,upstream_gene_variant,,ENST00000492532,;	.	49	80	SUCCESS
CADPS2	93664	.	GRCh37	7	122526154	122526154	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	26	95	1	ENST00000449022.2:c.238G>C	p.Glu80Gln	p.E80Q	ENST00000449022	NM_017954.10	80	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS55158.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTCCTGCT	NONE	.	.	hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	.	.	ENSP00000398481	.	1/30	.	.	.	.	.	.	.	.	.	1/30	nonpreferredpair	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.05)	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,missense_variant,p.Glu80Gln,ENST00000334010,;CADPS2,missense_variant,p.Glu80Gln,ENST00000449022,;CADPS2,missense_variant,p.Glu80Gln,ENST00000313070,;CADPS2,missense_variant,p.Glu80Gln,ENST00000412584,;	258	96	128	SUCCESS
VWDE	221806	.	GRCh37	7	12409576	12409576	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	61	78	0	ENST00000275358.3:c.2356G>T	p.Asp786Tyr	p.D786Y	ENST00000275358	NM_001135924.1	786	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47544.1	2356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATCCTCAG	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	12/29	.	.	.	.	.	.	.	.	.	12/29	nonpreferredpair	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Asp786Tyr,ENST00000275358,;VWDE,missense_variant,p.Asp786Tyr,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	2545	78	147	SUCCESS
KCP	375616	.	GRCh37	7	128531548	128531548	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	16	0	ENST00000476647.2:n.1878A>G		p.*626*	ENST00000476647				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTCCGCT	NONE	.	.	.	.	.	.	.	18/40	.	.	.	.	.	.	.	.	.	18/40	nonpreferredpair	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000487494,;KCP,non_coding_transcript_exon_variant,,ENST00000479474,;	1878	16	32	SUCCESS
PRSS1	5644	.	GRCh37	7	142458441	142458441	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766579839	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	424	57	285	0	ENST00000311737.7:c.76G>A	p.Gly26Arg	p.G26R	ENST00000311737	NM_002769.4	26	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS5872.1	76	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTGGGGGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	2/5	.	.	.	.	.	.	.	.	rs766579839	2/5	nonpreferredpair	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,missense_variant,p.Gly26Arg,ENST00000486171,;PRSS1,missense_variant,p.Gly26Arg,ENST00000311737,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,;	82	285	481	SUCCESS
HDAC9	9734	.	GRCh37	7	18688299	18688299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	68	0	ENST00000432645.2:c.1451T>A	p.Met484Lys	p.M484K	ENST00000432645	NM_058176.2	484	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS47553.1	1460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGAACA	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	10/25	.	.	.	.	.	.	.	.	.	10/25	nonpreferredpair	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0.02)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Met443Lys,ENST00000401921,;HDAC9,missense_variant,p.Met484Lys,ENST00000405010,;HDAC9,missense_variant,p.Met440Lys,ENST00000428307,;HDAC9,missense_variant,p.Met487Lys,ENST00000441542,;HDAC9,missense_variant,p.Met482Lys,ENST00000417496,;HDAC9,missense_variant,p.Met471Lys,ENST00000406072,;HDAC9,missense_variant,p.Met484Lys,ENST00000406451,;HDAC9,missense_variant,p.Met456Lys,ENST00000456174,;HDAC9,missense_variant,p.Met484Lys,ENST00000432645,;HDAC9,missense_variant,p.Met407Lys,ENST00000524023,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1460	68	127	SUCCESS
IGF2BP3	10643	.	GRCh37	7	23353255	23353255	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	43	0	ENST00000258729.3:c.1413T>C	p.Tyr471=	p.Y471=	ENST00000258729	NM_006547.2	471	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS5382.1	1413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCATAAAT	BUFFER|p.I474M|c.1422T>G|3	.	.	hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000258729	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000258729	Transcript	.	.	ENSG00000136231	28868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B3_HUMAN	IGF2BP3	HGNC	.	.	UPI0000117172	SNV	IGF2BP3,synonymous_variant,p.%3D,ENST00000258729,;MALSU1,downstream_gene_variant,,ENST00000466681,;IGF2BP3,3_prime_UTR_variant,,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000498363,;IGF2BP3,downstream_gene_variant,,ENST00000467592,;MALSU1,downstream_gene_variant,,ENST00000476623,;	1770	43	73	SUCCESS
CHST12	55501	.	GRCh37	7	2472325	2472325	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	36	23	0	ENST00000258711.6:c.51C>A	p.Phe17Leu	p.F17L	ENST00000258711	NM_001243794.1	17	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS5333.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCATGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF4	.	.	ENSP00000258711	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000258711	Transcript	.	.	ENSG00000136213	17423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.33)	.	CHSTC_HUMAN	CHST12	HGNC	C9J991_HUMAN	.	UPI000004C65C	SNV	CHST12,missense_variant,p.Phe17Leu,ENST00000258711,;CHST12,missense_variant,p.Phe17Leu,ENST00000432336,;	186	23	68	SUCCESS
PDE1C	5137	.	GRCh37	7	31829777	31829777	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	41	0	ENST00000321453.7:c.1892-14431C>G		p.*631*	ENST00000321453	NM_001191059.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGAAGGA	NONE	.	.	.	.	.	ENSP00000379496	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODIFIER	17/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,3_prime_UTR_variant,,ENST00000396184,;PDE1C,intron_variant,,ENST00000396191,;PDE1C,intron_variant,,ENST00000396193,;PDE1C,intron_variant,,ENST00000321453,;PDE1C,downstream_gene_variant,,ENST00000396182,;AC006377.1,upstream_gene_variant,,ENST00000411138,;PDE1C,downstream_gene_variant,,ENST00000479980,;	.	41	36	SUCCESS
TBX20	57057	.	GRCh37	7	35242186	35242186	+	synonymous_variant	Silent	SNP	C	C	A	rs541075247	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	306	88	252	1	ENST00000408931.3:c.1200G>T	p.Ser400=	p.S400=	ENST00000408931	NM_001077653.2	400	tcG/tcT	0	.	T:0	.	T:0.0029	.	A	S	protein_coding	YES	CCDS43568.1	1200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGATGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11267	T:0	.	ENSP00000386170	T:0	8/8	.	.	.	.	.	.	.	.	rs541075247	8/8	nonpreferredpair	ENST00000408931	Transcript	.	T:0.0004	ENSG00000164532	11598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TBX20_HUMAN	TBX20	HGNC	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN	.	UPI00004B23D3	SNV	TBX20,synonymous_variant,p.%3D,ENST00000408931,;	1727	253	395	SUCCESS
SDK1	221935	.	GRCh37	7	4091432	4091432	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	14	93	0	ENST00000404826.2:c.2881A>T	p.Thr961Ser	p.T961S	ENST00000404826	NM_152744.3	961	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS34590.1	2881	MUTECT|MUSE	.	CCAGCACACCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	19/45	.	.	.	.	.	.	.	.	.	19/45	nonpreferredpair	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.59)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Thr961Ser,ENST00000404826,;SDK1,missense_variant,p.Thr961Ser,ENST00000389531,;	3020	93	168	SUCCESS
SEMA3A	10371	.	GRCh37	7	83643576	83643576	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	52	0	ENST00000265362.4:c.759T>C	p.Asp253=	p.D253=	ENST00000265362	NM_006080.2	253	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS5599.1	759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCATCTAT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	7/17	.	.	.	.	.	.	.	.	.	7/17	nonpreferredpair	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1074	52	88	SUCCESS
SUN1	23353	.	GRCh37	7	905675	905675	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	79	93	0	ENST00000401592.1:c.1951T>G	p.Phe651Val	p.F651V	ENST00000401592	NM_001130965.2	651	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS47525.1	1951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACTTCTCG	NONE	.	.	PROSITE_profiles:PS51469,hmmpanther:PTHR12911:SF18,hmmpanther:PTHR12911,Pfam_domain:PF07738	.	.	ENSP00000384015	.	16/19	.	.	.	.	.	.	.	.	COSM3883240,COSM3883239,COSM3883241	16/19	nonpreferredpair	ENST00000401592	Transcript	.	.	ENSG00000164828	18587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.982)	.	deleterious(0.02)	1,1,1	SUN1_HUMAN	SUN1	HGNC	Q5S4N2_HUMAN,C9K051_HUMAN,C9JS54_HUMAN,C9JR15_HUMAN,C9JK55_HUMAN,C9JJU6_HUMAN	.	UPI000020E965	SNV	SUN1,missense_variant,p.Phe548Val,ENST00000452783,;SUN1,missense_variant,p.Phe840Val,ENST00000456758,;SUN1,missense_variant,p.Phe500Val,ENST00000433212,;SUN1,missense_variant,p.Phe576Val,ENST00000429178,;SUN1,missense_variant,p.Phe688Val,ENST00000405266,;SUN1,missense_variant,p.Phe568Val,ENST00000425407,;SUN1,missense_variant,p.Phe651Val,ENST00000401592,;SUN1,missense_variant,p.Phe449Val,ENST00000413514,;SUN1,missense_variant,p.Phe568Val,ENST00000389574,;SUN1,missense_variant,p.Phe369Val,ENST00000457861,;SUN1,non_coding_transcript_exon_variant,,ENST00000413171,;SUN1,non_coding_transcript_exon_variant,,ENST00000475971,;SUN1,upstream_gene_variant,,ENST00000497943,;	1975	93	173	SUCCESS
KPNA7	402569	.	GRCh37	7	98792868	98792868	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	6	95	0	ENST00000327442.6:c.378T>G	p.Leu126=	p.L126=	ENST00000327442	NM_001145715.1	126	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47651.1	378	MUTECT|MUSE	.	GGGTAAAGTGA	NONE	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23316:SF11,hmmpanther:PTHR23316,Pfam_domain:PF00514,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000330878	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000327442	Transcript	.	.	ENSG00000185467	21839	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMA8_HUMAN	KPNA7	HGNC	.	.	UPI00004193B5	SNV	KPNA7,synonymous_variant,p.%3D,ENST00000327442,;	418	95	154	SUCCESS
USP17L2	377630	.	GRCh37	8	11995368	11995368	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs528142888	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	19	176	0	ENST00000333796.3:c.902T>C	p.Leu301Pro	p.L301P	ENST00000333796	NM_201402.2	301	cTt/cCt	0	.	G:0	.	G:0	.	G	L/P	protein_coding	YES	CCDS43713.1	902	MUTECT|MUSE|VARSCANS	.	TGTCAAGGCAC	NONE	by1000G	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382,Pfam_domain:PF00443,Superfamily_domains:SSF54001	G:0	.	ENSP00000333329	G:0.001	1/1	.	.	.	.	.	.	.	.	rs528142888	1/1	nonpreferredpair	ENST00000333796	Transcript	.	G:0.0002	ENSG00000223443	34434	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.908)	G:0	deleterious(0)	.	U17L2_HUMAN	USP17L2	HGNC	.	.	UPI0000198137	SNV	USP17L2,missense_variant,p.Leu301Pro,ENST00000333796,;FAM66D,intron_variant,,ENST00000434078,;USP17L7,upstream_gene_variant,,ENST00000530447,;USP17L7,upstream_gene_variant,,ENST00000416902,;	1219	176	191	SUCCESS
POU5F1B	5462	.	GRCh37	8	128428181	128428181	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs551358165	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	10	0	ENST00000465342.2:c.70G>T	p.Gly24Trp	p.G24W	ENST00000465342		24	Ggg/Tgg	0	.	C:0	.	C:0	.	T	G/W	protein_coding	YES	CCDS55274.1	70	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGGGGCG	NONE	by1000G	.	hmmpanther:PTHR11636:SF15,hmmpanther:PTHR11636,Low_complexity_(Seg):seg	C:0	.	ENSP00000419298	C:0	2/2	.	.	.	.	.	.	.	.	rs551358165	2/2	nonpreferredpair	ENST00000465342	Transcript	.	C:0.0002	ENSG00000212993	9223	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	C:0.001	deleterious(0)	.	P5F1B_HUMAN	POU5F1B	HGNC	D5K9T1_HUMAN	.	UPI000013F18B	SNV	POU5F1B,missense_variant,p.Gly24Trp,ENST00000465342,;POU5F1B,missense_variant,p.Gly24Trp,ENST00000391675,;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	1227	10	17	SUCCESS
PTP4A3	11156	.	GRCh37	8	142435203	142435203	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765340391	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	23	78	0	ENST00000329397.1:c.161A>T	p.Asp54Val	p.D54V	ENST00000329397		54	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6383.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGACAAAA	NONE	byFrequency	.	hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF57,Pfam_domain:PF00102,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000428976	.	3/6	.	.	.	.	.	.	.	.	rs765340391	3/6	nonpreferredpair	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,missense_variant,p.Asp54Val,ENST00000349124,;PTP4A3,missense_variant,p.Asp54Val,ENST00000521578,;PTP4A3,missense_variant,p.Asp54Val,ENST00000329397,;PTP4A3,missense_variant,p.Asp54Val,ENST00000520105,;PTP4A3,missense_variant,p.Asp54Val,ENST00000523147,;PTP4A3,intron_variant,,ENST00000524028,;	1106	78	108	SUCCESS
PCM1	5108	.	GRCh37	8	17815276	17815276	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759531841	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	67	0	ENST00000325083.8:c.2032A>G	p.Met678Val	p.M678V	ENST00000325083	NM_006197.3	678	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS47812.1	2032	MUTECT|MUSE	.	TTGCTATGGTA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12	.	.	ENSP00000327077	.	13/39	.	.	.	.	.	.	.	.	rs759531841	13/39	nonpreferredpair	ENST00000325083	Transcript	1	.	ENSG00000078674	8727	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	tolerated(0.07)	.	PCM1_HUMAN	PCM1	HGNC	E5RGQ4_HUMAN	.	UPI0000210A25	SNV	PCM1,missense_variant,p.Met679Val,ENST00000524226,;PCM1,missense_variant,p.Met678Val,ENST00000519253,;PCM1,missense_variant,p.Met717Val,ENST00000517730,;PCM1,missense_variant,p.Met678Val,ENST00000325083,;PCM1,downstream_gene_variant,,ENST00000523055,;PCM1,downstream_gene_variant,,ENST00000518537,;PCM1,downstream_gene_variant,,ENST00000518930,;PCM1,upstream_gene_variant,,ENST00000518762,;PCM1,non_coding_transcript_exon_variant,,ENST00000517836,;	2471	67	60	SUCCESS
NKX3-1	4824	.	GRCh37	8	23538852	23538852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	64	0	ENST00000380871.4:c.587C>T	p.Ser196Phe	p.S196F	ENST00000380871	NM_006167.3	196	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS6042.1	587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGAGGAG	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF30	.	.	ENSP00000370253	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000380871	Transcript	.	.	ENSG00000167034	7838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.01)	.	NKX31_HUMAN	NKX3-1	HGNC	.	.	UPI00001301F4	SNV	NKX3-1,missense_variant,p.Ser196Phe,ENST00000380871,;NKX3-1,missense_variant,p.Ser121Phe,ENST00000523261,;	625	64	34	SUCCESS
OR13C8	138802	.	GRCh37	9	107331510	107331510	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	33	0	ENST00000335040.1:c.62C>A	p.Pro21Gln	p.P21Q	ENST00000335040	NM_001004483.1	21	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS35090.1	62	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCAAAGC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87	.	.	ENSP00000334068	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000335040	Transcript	.	.	ENSG00000186943	15103	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O13C8_HUMAN	OR13C8	HGNC	.	.	UPI000004B203	SNV	OR13C8,missense_variant,p.Pro21Gln,ENST00000335040,;	62	33	49	SUCCESS
NUP188	23511	.	GRCh37	9	131762026	131762026	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762925015	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	8	69	0	ENST00000372577.2:c.3785A>T	p.Lys1262Met	p.K1262M	ENST00000372577	NM_015354.2	1262	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS35156.1	3785	MUTECT|MUSE	.	GGACAAGGACA	NONE	.	.	hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1	.	.	ENSP00000361658	.	34/44	.	.	.	.	.	.	.	.	rs762925015	34/44	nonpreferredpair	ENST00000372577	Transcript	.	.	ENSG00000095319	17859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.847)	.	deleterious(0.03)	.	NU188_HUMAN	NUP188	HGNC	.	.	UPI000041A60F	SNV	NUP188,missense_variant,p.Lys1262Met,ENST00000372577,;RP11-167N5.5,downstream_gene_variant,,ENST00000594418,;NUP188,downstream_gene_variant,,ENST00000467044,;NUP188,non_coding_transcript_exon_variant,,ENST00000487952,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,downstream_gene_variant,,ENST00000495726,;NUP188,downstream_gene_variant,,ENST00000485158,;	3806	69	115	SUCCESS
RXRA	6256	.	GRCh37	9	137300011	137300011	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	48	68	0	ENST00000481739.1:c.296A>G	p.Asn99Ser	p.N99S	ENST00000481739	NM_002957.4	99	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS35172.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGAACCCCG	NONE	.	.	Pfam_domain:PF11825,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	3/10	.	.	.	.	.	.	.	.	.	3/10	nonpreferredpair	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.36)	.	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Asn99Ser,ENST00000481739,;RXRA,missense_variant,p.Asn2Ser,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;RXRA,downstream_gene_variant,,ENST00000484822,;	348	68	139	SUCCESS
SLC24A2	25769	.	GRCh37	9	19528053	19528053	+	synonymous_variant	Silent	SNP	C	C	T	rs201117303	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	88	0	ENST00000341998.2:c.1563G>A	p.Ala521=	p.A521=	ENST00000341998	NM_001193288.2	521	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS6493.1	1563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGCGCCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	T:0.001	.	ENSP00000344801	T:0	8/10	.	.	.	.	.	.	.	.	rs201117303	8/10	nonpreferredpair	ENST00000341998	Transcript	.	T:0.0002	ENSG00000155886	10976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,synonymous_variant,p.%3D,ENST00000341998,;SLC24A2,synonymous_variant,p.%3D,ENST00000286344,;	1625	88	104	SUCCESS
ZNF658	26149	.	GRCh37	9	40773313	40773313	+	synonymous_variant	Silent	SNP	C	C	A	rs138850783	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	127	0	ENST00000602553.1:c.1962G>T	p.Gly654=	p.G654=	ENST00000602553		654	ggG/ggT	0	G:0	G:0	.	G:0	.	A	G	protein_coding	YES	CCDS35023.1	1962	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCCCTGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	G:0	G:0.0008	ENSP00000473484	G:0.003	5/5	.	.	.	.	.	.	.	.	rs138850783	5/5	nonpreferredpair	ENST00000602553	Transcript	.	G:0.0006	ENSG00000196409	25226	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	ZN658_HUMAN	ZNF658	HGNC	B3KNB1_HUMAN	.	UPI000046D388	SNV	ZNF658,synonymous_variant,p.%3D,ENST00000377626,;ZNF658,synonymous_variant,p.%3D,ENST00000602553,;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;	2257	127	115	SUCCESS
NXF5	55998	.	GRCh37	X	101095774	101095774	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	42	183	0	ENST00000263032.1:c.574C>G	p.Leu192Val	p.L192V	ENST00000263032		192	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14491.2	574	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGATTCA	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF26,PROSITE_profiles:PS51450	.	.	ENSP00000442401	.	9/16	.	.	.	.	.	.	.	.	.	9/16	nonpreferredpair	ENST00000537026	Transcript	.	.	ENSG00000126952	8075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	NXF5_HUMAN	NXF5	HGNC	.	.	UPI0000F059DC	SNV	NXF5,missense_variant,p.Leu192Val,ENST00000473265,;NXF5,missense_variant,p.Leu192Val,ENST00000361708,;NXF5,missense_variant,p.Leu192Val,ENST00000537026,;NXF5,missense_variant,p.Leu129Val,ENST00000332614,;NXF5,missense_variant,p.Leu129Val,ENST00000361330,;NXF5,missense_variant,p.Leu192Val,ENST00000372803,;NXF5,missense_variant,p.Leu192Val,ENST00000263032,;NXF5,3_prime_UTR_variant,,ENST00000493509,;	934	183	211	SUCCESS
FAM58A	0	.	GRCh37	X	152858107	152858107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	48	52	0	ENST00000406277.2:c.508G>T	p.Ala170Ser	p.A170S	ENST00000406277	NM_152274.4	170	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	.	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCCCAGG	NONE	.	.	hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF60,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000384396	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000406277	Transcript	.	.	ENSG00000147382	28434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.552)	.	tolerated(0.19)	.	.	FAM58A	HGNC	D3DWU4_HUMAN,K7EM37_HUMAN,J3QT30_HUMAN	.	UPI0001AE6FCF	SNV	FAM58A,missense_variant,p.Ala130Ser,ENST00000482182,;FAM58A,missense_variant,p.Ala170Ser,ENST00000406277,;FAM58A,missense_variant,p.Ala65Ser,ENST00000440428,;FAM58A,intron_variant,,ENST00000429336,;FAM58A,non_coding_transcript_exon_variant,,ENST00000276345,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370173,;FAM58A,non_coding_transcript_exon_variant,,ENST00000470284,;FAM58A,non_coding_transcript_exon_variant,,ENST00000465867,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370175,;FAM58A,non_coding_transcript_exon_variant,,ENST00000370171,;FAM58A,intron_variant,,ENST00000428722,;	611	52	74	SUCCESS
F8	2157	.	GRCh37	X	154197619	154197619	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	69	0	ENST00000360256.4:c.996T>A	p.Ser332=	p.S332=	ENST00000360256	NM_000132.3	332	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS35457.1	996	MUTECT|MUSE	.	TGGGAAGAGAT	NONE	.	.	PROSITE_patterns:PS00079,Gene3D:2.60.40.420,Pfam_domain:PF00394,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	.	.	ENSP00000353393	.	7/26	.	.	.	.	.	.	.	.	.	7/26	nonpreferredpair	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,synonymous_variant,p.%3D,ENST00000360256,;F8,upstream_gene_variant,,ENST00000483822,;	1197	69	80	SUCCESS
DCAF8L2	347442	.	GRCh37	X	27765563	27765563	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1431192056	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	139	0	ENST00000451261.2:c.551G>A	p.Arg184Gln	p.R184Q	ENST00000451261	NM_001136533.1	184	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS59162.1	551	MUTECT|MUSE	.	GCCCCGACCTC	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF36	.	.	ENSP00000462745	.	5/5	.	.	.	.	.	.	.	.	COSM1467347	5/5	nonpreferredpair	ENST00000451261	Transcript	.	.	ENSG00000189186	31811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.057)	.	tolerated(0.19)	1	DC8L2_HUMAN	DCAF8L2	HGNC	J3QRI4_HUMAN	.	UPI000183CBD9	SNV	DCAF8L2,missense_variant,p.Arg184Gln,ENST00000451261,;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;AC107613.1,non_coding_transcript_exon_variant,,ENST00000545306,;	950	139	149	SUCCESS
CHM	1121	.	GRCh37	X	85302520	85302520	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201252021	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	104	148	1	ENST00000357749.2:c.17C>T	p.Pro6Leu	p.P6L	ENST00000357749	NM_000390.2	6	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14454.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAAGGGAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,Pfam_domain:PF00996,Gene3D:3.50.50.60,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905	.	.	ENSP00000350386	.	1/15	.	.	.	.	.	.	.	.	rs201252021,CD022133	1/15	nonpreferredpair	ENST00000357749	Transcript	.	.	ENSG00000188419	1940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0.01)	.	RAE1_HUMAN	CHM	HGNC	B4DRL9_HUMAN	.	UPI0000049C8C	SNV	CHM,missense_variant,p.Pro6Leu,ENST00000358786,;CHM,missense_variant,p.Pro6Leu,ENST00000357749,;CHM,5_prime_UTR_variant,,ENST00000537751,;CHM,non_coding_transcript_exon_variant,,ENST00000483950,;CHM,upstream_gene_variant,,ENST00000467744,;	47	149	166	SUCCESS
PAX2	5076	.	GRCh37	10	102509535	102509535	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1022509510	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	21	0	ENST00000428433.1:c.76G>A	p.Val26Met	p.V26M	ENST00000428433	NM_003987.3	26	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS53569.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GGGGGGTGTTT	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Pfam_domain:PF00292,Gene3D:1.10.10.10,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,PROSITE_profiles:PS51057	.	.	ENSP00000396259	.	2/11	.	.	.	.	.	.	.	.	rs75462234	2/11	PASS	ENST00000428433	Transcript	1	.	ENSG00000075891	8616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.993)	.	tolerated(0.14)	.	PAX2_HUMAN	PAX2	HGNC	Q5SZP1_HUMAN	.	UPI00001AEA24	SNV	PAX2,missense_variant,p.Val26Met,ENST00000361791,;PAX2,missense_variant,p.Val30Met,ENST00000554172,;PAX2,missense_variant,p.Val26Met,ENST00000355243,;PAX2,missense_variant,p.Val26Met,ENST00000427256,;PAX2,missense_variant,p.Val25Met,ENST00000556085,;PAX2,missense_variant,p.Val26Met,ENST00000428433,;PAX2,missense_variant,p.Val26Met,ENST00000370296,;PAX2,intron_variant,,ENST00000553492,;PAX2,non_coding_transcript_exon_variant,,ENST00000483202,;PAX2,intron_variant,,ENST00000554363,;	626	21	23	SUCCESS
ADAM12	8038	.	GRCh37	10	127798378	127798378	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	69	0	ENST00000368679.4:c.644A>G	p.Tyr215Cys	p.Y215C	ENST00000368679	NM_003474.4	215	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7653.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATACTTA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000357668	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Tyr215Cys,ENST00000368679,;ADAM12,missense_variant,p.Tyr215Cys,ENST00000368676,;ADAM12,missense_variant,p.Tyr212Cys,ENST00000448723,;ADAM12,upstream_gene_variant,,ENST00000485388,;	954	69	65	SUCCESS
EBF3	253738	.	GRCh37	10	131665456	131665456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	43	107	0	ENST00000355311.5:c.988T>C	p.Tyr330His	p.Y330H	ENST00000355311		330	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31314.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTAGGAGA	NONE	.	.	hmmpanther:PTHR10747,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000357637	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000368648	Transcript	.	.	ENSG00000108001	19087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.02)	.	COE3_HUMAN	EBF3	HGNC	Q658Y5_HUMAN	.	UPI000002A6FB	SNV	EBF3,missense_variant,p.Tyr330His,ENST00000355311,;EBF3,missense_variant,p.Tyr321His,ENST00000368648,;	1034	107	140	SUCCESS
HSD17B7P2	158160	.	GRCh37	10	38647315	38647315	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs759622212	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	38	115	0	ENST00000494540.1:n.186T>A		p.*62*	ENST00000494540				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATATGAG	NONE	byFrequency	.	.	.	.	.	.	2/8	.	.	.	.	.	.	.	.	rs759622212	2/8	PASS	ENST00000494540	Transcript	.	.	ENSG00000099251	28120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSD17B7P2	HGNC	.	.	.	SNV	HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000494540,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000471365,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000374560,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000277668,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000356314,;	186	115	116	SUCCESS
KCNMA1	3778	.	GRCh37	10	78761222	78761222	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	35	209	0	ENST00000286628.8:c.2209A>T	p.Arg737Ter	p.R737*	ENST00000286628	NM_001161352.1	737	Aga/Tga	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53545.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTCTCAA	NONE	.	.	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	18/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,stop_gained,p.Arg741Ter,ENST00000406533,;KCNMA1,stop_gained,p.Arg737Ter,ENST00000286628,;KCNMA1,stop_gained,p.Arg672Ter,ENST00000372437,;KCNMA1,stop_gained,p.Arg711Ter,ENST00000457953,;KCNMA1,stop_gained,p.Arg737Ter,ENST00000404771,;KCNMA1,intron_variant,,ENST00000404857,;KCNMA1,intron_variant,,ENST00000372408,;KCNMA1,intron_variant,,ENST00000372403,;KCNMA1,intron_variant,,ENST00000372440,;KCNMA1,intron_variant,,ENST00000604624,;KCNMA1,intron_variant,,ENST00000450795,;KCNMA1,intron_variant,,ENST00000354353,;KCNMA1,intron_variant,,ENST00000372443,;KCNMA1,intron_variant,,ENST00000286627,;KCNMA1,intron_variant,,ENST00000434208,;KCNMA1,intron_variant,,ENST00000372421,;KCNMA1,intron_variant,,ENST00000475352,;	.	209	270	SUCCESS
C11orf70	0	.	GRCh37	11	101952001	101952001	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1565399341	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	26	0	ENST00000434758.2:c.664G>A	p.Val222Ile	p.V222I	ENST00000434758	NM_032930.2	222	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS8313.2	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAGTTTCA	NONE	.	.	hmmpanther:PTHR31078,hmmpanther:PTHR31078:SF1,Pfam_domain:PF14926	.	.	ENSP00000414390	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000434758	Transcript	.	.	ENSG00000137691	28188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	tolerated(0.07)	.	CK070_HUMAN	C11orf70	HGNC	.	.	UPI00001FA24F	SNV	C11orf70,missense_variant,p.Val222Ile,ENST00000526781,;C11orf70,missense_variant,p.Val222Ile,ENST00000434758,;C11orf70,non_coding_transcript_exon_variant,,ENST00000530659,;	692	26	27	SUCCESS
NFRKB	4798	.	GRCh37	11	129762747	129762747	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	22	138	0	ENST00000446488.3:c.-3A>G		p.*1*	ENST00000446488	NM_001143835.1	13		0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8483.1	37	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTTTCTT	NONE	.	.	hmmpanther:PTHR13052	.	.	ENSP00000436926	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	SNV	NFRKB,missense_variant,p.Thr13Ala,ENST00000524794,;NFRKB,5_prime_UTR_variant,,ENST00000532225,;NFRKB,5_prime_UTR_variant,,ENST00000531318,;NFRKB,5_prime_UTR_variant,,ENST00000526940,;NFRKB,5_prime_UTR_variant,,ENST00000446488,;NFRKB,5_prime_UTR_variant,,ENST00000524746,;NFRKB,5_prime_UTR_variant,,ENST00000304521,;NFRKB,5_prime_UTR_variant,,ENST00000529319,;NFRKB,5_prime_UTR_variant,,ENST00000531755,;NFRKB,5_prime_UTR_variant,,ENST00000526884,;NFRKB,5_prime_UTR_variant,,ENST00000530278,;	158	138	158	SUCCESS
UEVLD	55293	.	GRCh37	11	18579874	18579874	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	57	0	ENST00000396197.3:c.616A>C	p.Ile206Leu	p.I206L	ENST00000396197	NM_001040697.2	206	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS41624.1	616	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAATACCCT	NONE	.	.	hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18,Pfam_domain:PF00056,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00086	.	.	ENSP00000379500	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000396197	Transcript	.	.	ENSG00000151116	30866	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	tolerated(1)	.	UEVLD_HUMAN	UEVLD	HGNC	B4DWH4_HUMAN,B4DIA9_HUMAN	.	UPI00001AF2D2	SNV	UEVLD,missense_variant,p.Ile184Leu,ENST00000379387,;UEVLD,missense_variant,p.Ile106Leu,ENST00000541984,;UEVLD,missense_variant,p.Ile168Leu,ENST00000535484,;UEVLD,missense_variant,p.Ile206Leu,ENST00000396197,;UEVLD,missense_variant,p.Ile184Leu,ENST00000320750,;UEVLD,missense_variant,p.Ile206Leu,ENST00000543987,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,3_prime_UTR_variant,,ENST00000396196,;	645	57	61	SUCCESS
CAPRIN1	4076	.	GRCh37	11	34118806	34118806	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	7	144	0	ENST00000341394.4:c.1964A>C	p.Gln655Pro	p.Q655P	ENST00000341394	NM_005898.4	655	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS31453.1	1964	MUTECT|MUSE	.	GTCTCAGTTCA	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3,Pfam_domain:PF12287	.	.	ENSP00000340329	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000341394	Transcript	.	.	ENSG00000135387	6743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.333)	.	tolerated(0.05)	.	CAPR1_HUMAN	CAPRIN1	HGNC	G3V153_HUMAN,E9PLA9_HUMAN	.	UPI0000251DB5	SNV	CAPRIN1,missense_variant,p.Gln655Pro,ENST00000532820,;CAPRIN1,missense_variant,p.Gln655Pro,ENST00000389645,;CAPRIN1,missense_variant,p.Gln655Pro,ENST00000530820,;CAPRIN1,missense_variant,p.Gln655Pro,ENST00000341394,;CAPRIN1,missense_variant,p.Gln574Pro,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,downstream_gene_variant,,ENST00000528948,;	2153	144	169	SUCCESS
MS4A10	341116	.	GRCh37	11	60561505	60561505	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200380093	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	70	133	0	ENST00000308287.1:c.421G>A	p.Val141Ile	p.V141I	ENST00000308287	NM_206893.3	141	Gtc/Atc	0	A:0	.	.	.	.	A	V/I	protein_coding	YES	CCDS7992.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGTCATC	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF5,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	A:0.0001	ENSP00000311862	.	5/8	.	.	.	.	.	.	.	.	rs200380093,COSM193191	5/8	PASS	ENST00000308287	Transcript	.	.	ENSG00000172689	13368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.665)	.	tolerated(0.14)	0,1	M4A10_HUMAN	MS4A10	HGNC	.	.	UPI000023754A	SNV	MS4A10,missense_variant,p.Val141Ile,ENST00000308287,;	517	133	155	SUCCESS
HPX	3263	.	GRCh37	11	6453126	6453127	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	61	0	ENST00000265983.3:c.956_957del	p.Tyr319SerfsTer82	p.Y319Sfs*82	ENST00000265983	NM_000613.2	319	tAT/t	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS7763.1	956-957	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCAGATAGAGT	NONE	.	.	Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,SMART_domains:SM00120,Pfam_domain:PF00045,Gene3D:2.110.10.10,PROSITE_profiles:PS51642	.	.	ENSP00000265983	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000265983	Transcript	.	.	ENSG00000110169	5171	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEMO_HUMAN	HPX	HGNC	.	.	UPI000012C5AF	deletion	HPX,frameshift_variant,p.Tyr319SerfsTer82,ENST00000265983,;HPX,non_coding_transcript_exon_variant,,ENST00000529037,;HPX,downstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000533561,;HPX,non_coding_transcript_exon_variant,,ENST00000527556,;	1057-1058	61	54	SUCCESS
LTBP3	4054	.	GRCh37	11	65318651	65318651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	27	0	ENST00000301873.5:c.1666C>T	p.Pro556Ser	p.P556S	ENST00000301873	NM_001130144.2	556	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS44647.1	1666	MUTECT|VARSCANS	.	GTCCGGCAGGA	NONE	.	.	hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35	.	.	ENSP00000301873	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000301873	Transcript	.	.	ENSG00000168056	6716	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.219)	.	deleterious(0.01)	.	LTBP3_HUMAN	LTBP3	HGNC	Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN	.	UPI00003667EB	SNV	LTBP3,missense_variant,p.Pro207Ser,ENST00000526927,;LTBP3,missense_variant,p.Pro556Ser,ENST00000301873,;LTBP3,missense_variant,p.Pro467Ser,ENST00000530866,;LTBP3,missense_variant,p.Pro556Ser,ENST00000322147,;LTBP3,missense_variant,p.Pro182Ser,ENST00000536982,;LTBP3,upstream_gene_variant,,ENST00000527339,;LTBP3,downstream_gene_variant,,ENST00000530426,;LTBP3,upstream_gene_variant,,ENST00000529189,;LTBP3,upstream_gene_variant,,ENST00000532932,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000529764,;LTBP3,non_coding_transcript_exon_variant,,ENST00000528966,;LTBP3,downstream_gene_variant,,ENST00000524798,;LTBP3,downstream_gene_variant,,ENST00000526825,;LTBP3,downstream_gene_variant,,ENST00000527792,;	1935	27	34	SUCCESS
SHANK2	22941	.	GRCh37	11	70348970	70348970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	38	89	0	ENST00000423696.2:c.991A>T	p.Asn331Tyr	p.N331Y	ENST00000423696		331	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	.	2131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATTCCCTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000345193	.	24/33	.	.	.	.	.	.	.	.	.	24/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Asn121Tyr,ENST00000409530,;SHANK2,missense_variant,p.Asn121Tyr,ENST00000409161,;SHANK2,missense_variant,p.Asn121Tyr,ENST00000412252,;SHANK2,missense_variant,p.Asn331Tyr,ENST00000423696,;SHANK2,missense_variant,p.Asn120Tyr,ENST00000426687,;SHANK2,missense_variant,p.Asn122Tyr,ENST00000357171,;SHANK2,missense_variant,p.Asn341Tyr,ENST00000294018,;SHANK2,missense_variant,p.Asn122Tyr,ENST00000449116,;SHANK2,missense_variant,p.Asn711Tyr,ENST00000338508,;SHANK2,missense_variant,p.Asn122Tyr,ENST00000449833,;SHANK2,upstream_gene_variant,,ENST00000424924,;	2131	89	132	SUCCESS
CNTN5	53942	.	GRCh37	11	99827704	99827704	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	75	178	0	ENST00000524871.1:c.840C>T	p.Val280=	p.V280=	ENST00000524871	NM_014361.3	280	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS53696.1	840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTCCTTAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,synonymous_variant,p.%3D,ENST00000279463,;CNTN5,synonymous_variant,p.%3D,ENST00000524871,;CNTN5,synonymous_variant,p.%3D,ENST00000528682,;CNTN5,synonymous_variant,p.%3D,ENST00000527185,;CNTN5,synonymous_variant,p.%3D,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000525236,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	1130	178	197	SUCCESS
IQSEC3	440073	.	GRCh37	12	271125	271125	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	98	215	0	ENST00000538872.1:c.2477T>A	p.Leu826Gln	p.L826Q	ENST00000538872		826	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS53728.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGGTGG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000437554	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000538872	Transcript	.	.	ENSG00000120645	29193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IQEC3_HUMAN	IQSEC3	HGNC	.	.	UPI0000DBEEF0	SNV	IQSEC3,missense_variant,p.Leu826Gln,ENST00000538872,;IQSEC3,missense_variant,p.Leu523Gln,ENST00000382841,;IQSEC3,missense_variant,p.Leu826Gln,ENST00000326261,;RP11-598F7.6,downstream_gene_variant,,ENST00000537295,;RP11-598F7.5,downstream_gene_variant,,ENST00000540136,;	2595	215	197	SUCCESS
KRT1	3848	.	GRCh37	12	53074087	53074087	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748686918	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	21	159	0	ENST00000252244.3:c.46G>T	p.Gly16Cys	p.G16C	ENST00000252244	NM_006121.3	16	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS8836.1	46	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCCCCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000252244	.	1/9	.	.	.	.	.	.	.	.	rs748686918	1/9	PASS	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,missense_variant,p.Gly16Cys,ENST00000252244,;KRT1,upstream_gene_variant,,ENST00000548765,;	105	159	175	SUCCESS
OR6C75	390323	.	GRCh37	12	55759405	55759405	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	101	0	ENST00000343399.3:c.511G>T	p.Val171Leu	p.V171L	ENST00000343399	NM_001005497.1	171	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS31820.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGTAATT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,PROSITE_profiles:PS50262	.	.	ENSP00000368987	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343399	Transcript	.	.	ENSG00000187857	31304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious_low_confidence(0.02)	.	O6C75_HUMAN	OR6C75	HGNC	.	.	UPI000023786C	SNV	OR6C75,missense_variant,p.Val171Leu,ENST00000343399,;	511	101	112	SUCCESS
SUOX	6821	.	GRCh37	12	56398608	56398608	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1325574553	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	20	153	0	ENST00000266971.3:c.1435G>A	p.Glu479Lys	p.E479K	ENST00000266971	NM_001032386.1	479	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8901.2	1435	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGAACAG	NONE	.	.	hmmpanther:PTHR19372:SF2,hmmpanther:PTHR19372,Gene3D:2a9dA02,Pfam_domain:PF03404,Superfamily_domains:SSF81296	.	.	ENSP00000377668	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394109	Transcript	.	.	ENSG00000139531	11460	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.39)	.	SUOX_HUMAN	SUOX	HGNC	F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN	.	UPI00001FC4A1	SNV	SUOX,missense_variant,p.Glu479Lys,ENST00000394115,;SUOX,missense_variant,p.Glu479Lys,ENST00000356124,;SUOX,missense_variant,p.Glu479Lys,ENST00000266971,;SUOX,missense_variant,p.Glu479Lys,ENST00000548274,;SUOX,missense_variant,p.Glu479Lys,ENST00000394109,;SUOX,downstream_gene_variant,,ENST00000546833,;IKZF4,upstream_gene_variant,,ENST00000262032,;SUOX,downstream_gene_variant,,ENST00000552258,;SUOX,downstream_gene_variant,,ENST00000551841,;SUOX,downstream_gene_variant,,ENST00000547586,;SUOX,downstream_gene_variant,,ENST00000550478,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,downstream_gene_variant,,ENST00000551698,;SUOX,downstream_gene_variant,,ENST00000552363,;SUOX,downstream_gene_variant,,ENST00000550340,;IKZF4,upstream_gene_variant,,ENST00000548601,;SUOX,missense_variant,p.Glu479Lys,ENST00000550065,;SUOX,downstream_gene_variant,,ENST00000546712,;SUOX,downstream_gene_variant,,ENST00000552813,;	2159	153	191	SUCCESS
POC1B	282809	.	GRCh37	12	89891089	89891089	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs111514387	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	19	76	0	ENST00000313546.3:c.131T>C	p.Leu44Pro	p.L44P	ENST00000313546	NM_172240.2	44	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31869.1	131	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATAGCATG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR22847:SF318,hmmpanther:PTHR22847,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000323302	.	3/12	.	.	.	.	.	.	.	.	rs111514387	3/12	PASS	ENST00000313546	Transcript	.	.	ENSG00000139323	30836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	POC1B_HUMAN	POC1B	HGNC	Q8IU52_HUMAN,F8VX21_HUMAN,A0MNP0_HUMAN	.	UPI000006E6B9	SNV	POC1B,missense_variant,p.Leu2Pro,ENST00000549035,;POC1B,missense_variant,p.Leu44Pro,ENST00000313546,;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000549504,;POC1B,upstream_gene_variant,,ENST00000378528,;POC1B,missense_variant,p.Leu44Pro,ENST00000546830,;POC1B,non_coding_transcript_exon_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000547274,;POC1B,intron_variant,,ENST00000547496,;CENPCP1,upstream_gene_variant,,ENST00000533085,;	260	77	142	SUCCESS
RB1	5925	.	GRCh37	13	48941636	48941636	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	21	0	ENST00000267163.4:c.946A>T	p.Asn316Tyr	p.N316Y	ENST00000267163	NM_000321.2	316	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS31973.1	946	RADIA|MUTECT|MUSE	.	TTGAAAATCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13742	.	.	ENSP00000267163	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.189)	.	deleterious(0.04)	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,missense_variant,p.Asn316Tyr,ENST00000267163,;RB1,downstream_gene_variant,,ENST00000467505,;	1084	21	11	SUCCESS
RB1	5925	.	GRCh37	13	48951170	48951170	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	.	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	41	0	ENST00000267163.4:c.1332G>A		p.X444_splice	ENST00000267163	NM_000321.2	444	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS31973.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGGTAAC	NONE	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	13/27	.	.	.	.	.	.	.	.	CS004738,CS081960,COSM932	13/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	0,0,1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,synonymous_variant,p.%3D,ENST00000267163,;	1470	41	38	SUCCESS
BORA	79866	.	GRCh37	13	73312100	73312100	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	87	0	ENST00000390667.5:c.307T>C	p.Phe103Leu	p.F103L	ENST00000390667	NM_024808.2	103	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS9446.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGTTTTTC	NONE	.	.	hmmpanther:PTHR14728:SF1,hmmpanther:PTHR14728,Pfam_domain:PF15280,Prints_domain:PR02038	.	.	ENSP00000375082	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000390667	Transcript	.	.	ENSG00000136122	24724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BORA_HUMAN	BORA	HGNC	B5LMG6_HUMAN	.	UPI0000224003	SNV	BORA,missense_variant,p.Phe103Leu,ENST00000390667,;BORA,missense_variant,p.Phe33Leu,ENST00000377815,;BORA,missense_variant,p.Phe81Leu,ENST00000377814,;BORA,splice_region_variant,,ENST00000471712,;BORA,splice_region_variant,,ENST00000464754,;	404	87	66	SUCCESS
HSP90AA1	3320	.	GRCh37	14	102551156	102551178	+	frameshift_variant	Frame_Shift_Del	DEL	CTTAATCTTCTTCTTCTTCTTCT	CTTAATCTTCTTCTTCTTCTTCT	-	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	CTTAATCTTCTTCTTCTTCTTCT	CTTAATCTTCTTCTTCTTCTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	69	0	ENST00000216281.8:c.821_843del	p.Lys274ArgfsTer25	p.K274Rfs*25	ENST00000216281	NM_005348.3	274	aAGAAGAAGAAGAAGAAGATTAAG/a	0	.	.	.	.	.	-	KKKKKKIK/X	protein_coding	YES	CCDS32160.1	1187-1209	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTCCTTAATCTTCTTCTTCTTCTTCTTGTCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583	.	.	ENSP00000335153	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	deletion	HSP90AA1,frameshift_variant,p.Lys95ArgfsTer25,ENST00000441629,;HSP90AA1,frameshift_variant,p.Lys396ArgfsTer25,ENST00000334701,;HSP90AA1,frameshift_variant,p.Lys274ArgfsTer25,ENST00000216281,;HSP90AA1,downstream_gene_variant,,ENST00000553585,;HSP90AA1,3_prime_UTR_variant,,ENST00000554401,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;HSP90AA1,upstream_gene_variant,,ENST00000560130,;HSP90AA1,upstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;	1469-1491	69	91	SUCCESS
KIF26A	26153	.	GRCh37	14	104642627	104642627	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	20	0	ENST00000423312.2:c.3502A>C	p.Ser1168Arg	p.S1168R	ENST00000423312	NM_015656.1	1168	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS45171.1	3502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACAGTCCT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0.04)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Ser1029Arg,ENST00000315264,;KIF26A,missense_variant,p.Ser1168Arg,ENST00000423312,;	3502	20	35	SUCCESS
KIF26A	26153	.	GRCh37	14	104642628	104642628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	20	0	ENST00000423312.2:c.3503G>T	p.Ser1168Ile	p.S1168I	ENST00000423312	NM_015656.1	1168	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS45171.1	3503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAGTCCTG	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	deleterious(0.02)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Ser1029Ile,ENST00000315264,;KIF26A,missense_variant,p.Ser1168Ile,ENST00000423312,;	3503	20	34	SUCCESS
KLHL33	123103	.	GRCh37	14	20897132	20897132	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372057023	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	52	88	0	ENST00000344581.4:c.1478G>T	p.Arg493Leu	p.R493L	ENST00000344581	NM_001109997.2	493	cGa/cTa	0	T:0.0007	T:0.0008	.	T:0	.	A	R/L	protein_coding	YES	CCDS53882.1	1478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGGCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	T:0	T:0	ENSP00000341549	T:0	4/4	.	.	.	.	.	.	.	.	rs372057023	4/4	PASS	ENST00000344581	Transcript	.	T:0.0002	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	T:0	deleterious(0.04)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Arg493Leu,ENST00000344581,;	1701	88	141	SUCCESS
SNW1	22938	.	GRCh37	14	78202323	78202323	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	31	0	ENST00000261531.7:c.665C>G	p.Pro222Arg	p.P222R	ENST00000261531	NM_012245.2	222	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS9867.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGGTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12096,Pfam_domain:PF02731	.	.	ENSP00000261531	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,missense_variant,p.Pro60Arg,ENST00000554775,;SNW1,missense_variant,p.Pro222Arg,ENST00000555761,;SNW1,missense_variant,p.Pro222Arg,ENST00000261531,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557431,;SNW1,intron_variant,,ENST00000554324,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SNW1,non_coding_transcript_exon_variant,,ENST00000553565,;SLIRP,intron_variant,,ENST00000556310,;SNW1,downstream_gene_variant,,ENST00000557663,;	728	31	27	SUCCESS
NRXN3	9369	.	GRCh37	14	79434590	79434590	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	44	149	0	ENST00000554719.1:c.1924T>A	p.Phe642Ile	p.F642I	ENST00000554719	NM_004796.5	642	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS9870.1	1924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTTTCAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Phe642Ile,ENST00000554719,;NRXN3,missense_variant,p.Phe642Ile,ENST00000335750,;NRXN3,missense_variant,p.Phe1004Ile,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	2415	149	180	SUCCESS
KCNK13	56659	.	GRCh37	14	90651290	90651290	+	synonymous_variant	Silent	SNP	G	G	T	rs749642093	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	50	0	ENST00000282146.4:c.1170G>T	p.Gly390=	p.G390=	ENST00000282146	NM_022054.3	390	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9889.1	1170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGGTGGG	BUFFER|p.F387L|c.1161C>A|3	byFrequency	.	hmmpanther:PTHR11003:SF57,hmmpanther:PTHR11003	.	.	ENSP00000282146	.	2/2	.	.	.	.	.	.	.	.	rs749642093	2/2	PASS	ENST00000282146	Transcript	.	.	ENSG00000152315	6275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKD_HUMAN	KCNK13	HGNC	B5TJL8_HUMAN	.	UPI0000127A55	SNV	KCNK13,synonymous_variant,p.%3D,ENST00000282146,;	1611	50	58	SUCCESS
CCDC88C	440193	.	GRCh37	14	91780183	91780183	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	56	1	ENST00000389857.6:c.1977G>A	p.Glu659=	p.E659=	ENST00000389857	NM_001080414.3	659	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS45151.1	1977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCTCGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31	.	.	ENSP00000374507	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,synonymous_variant,p.%3D,ENST00000389857,;CCDC88C,downstream_gene_variant,,ENST00000557507,;	2064	57	46	SUCCESS
ADAMTS17	170691	.	GRCh37	15	100594228	100594228	+	synonymous_variant	Silent	SNP	G	G	A	rs368641530	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	132	93	0	ENST00000268070.4:c.2169C>T	p.Asn723=	p.N723=	ENST00000268070	NM_139057.2	723	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS10383.1	2169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGTTGAT	NONE	byCluster	.	Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF31	.	A:0.0001	ENSP00000268070	.	16/22	.	.	.	.	.	.	.	.	rs368641530	16/22	PASS	ENST00000268070	Transcript	1	.	ENSG00000140470	17109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS17_HUMAN	ADAMTS17	HGNC	.	.	UPI00001AE929	SNV	ADAMTS17,synonymous_variant,p.%3D,ENST00000268070,;ADAMTS17,synonymous_variant,p.%3D,ENST00000568565,;	2275	93	280	SUCCESS
NBEAP1	606	.	GRCh37	15	20876516	20876516	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	13	148	0	ENST00000556948.1:n.85G>T		p.*29*	ENST00000556948				0	.	.	.	.	.	A	.	retained_intron	YES	.	.	MUTECT|MUSE	.	AGGTACTCCAT	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000556948	Transcript	.	.	ENSG00000258590	1007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBEAP1	HGNC	.	.	.	SNV	NBEAP1,non_coding_transcript_exon_variant,,ENST00000556948,;NBEAP1,non_coding_transcript_exon_variant,,ENST00000554452,;	85	148	187	SUCCESS
FLYWCH2	114984	.	GRCh37	16	2946481	2946481	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	44	0	ENST00000293981.6:c.31G>A	p.Gly11Ser	p.G11S	ENST00000293981	NM_001142499.1	11	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS10482.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGTGAG	NONE	.	.	hmmpanther:PTHR31665,Pfam_domain:PF15423	.	.	ENSP00000380159	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000396958	Transcript	.	.	ENSG00000162076	25178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.09)	.	FWCH2_HUMAN	FLYWCH2	HGNC	I3L4I0_HUMAN	.	UPI000006F797	SNV	FLYWCH2,missense_variant,p.Gly11Ser,ENST00000573965,;FLYWCH2,missense_variant,p.Gly11Ser,ENST00000572006,;FLYWCH2,missense_variant,p.Gly11Ser,ENST00000293981,;FLYWCH2,missense_variant,p.Gly11Ser,ENST00000396958,;FLYWCH2,upstream_gene_variant,,ENST00000572786,;	411	44	52	SUCCESS
CDH3	1001	.	GRCh37	16	68721498	68721498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	106	228	0	ENST00000264012.4:c.1654C>A	p.Gln552Lys	p.Q552K	ENST00000264012	NM_001793.4	552	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS10868.1	1654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTCAGATC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF267,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000264012	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000264012	Transcript	.	.	ENSG00000062038	1762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.4)	.	CADH3_HUMAN	CDH3	HGNC	J3KTE9_HUMAN	.	UPI0000161BFF	SNV	CDH3,missense_variant,p.Gln552Lys,ENST00000429102,;CDH3,missense_variant,p.Gln497Lys,ENST00000581171,;CDH3,missense_variant,p.Gln552Lys,ENST00000264012,;CDH3,upstream_gene_variant,,ENST00000568292,;CDH3,3_prime_UTR_variant,,ENST00000542274,;CDH3,upstream_gene_variant,,ENST00000567674,;HSPE1P5,downstream_gene_variant,,ENST00000561489,;	2198	228	205	SUCCESS
NF1	4763	.	GRCh37	17	29553694	29553694	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	63	0	ENST00000358273.4:c.2243T>G	p.Met748Arg	p.M748R	ENST00000358273	NM_001042492.2	748	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS42292.1	2243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGATGTCAA	NONE	.	.	hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	18/58	.	.	.	.	.	.	.	.	.	18/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.14)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Met414Arg,ENST00000456735,;NF1,missense_variant,p.Met748Arg,ENST00000358273,;NF1,missense_variant,p.Met748Arg,ENST00000356175,;NF1,downstream_gene_variant,,ENST00000431387,;NF1,missense_variant,p.Met782Arg,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	2626	63	85	SUCCESS
ARL5C	390790	.	GRCh37	17	37319108	37319108	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	9	119	0	ENST00000269586.7:c.111G>C	p.Leu37Phe	p.L37F	ENST00000269586	NM_001143968.1	37	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS45664.1	111	MUTECT|MUSE	.	TTGGTCAAGCT	NONE	.	.	Prints_domain:PR00328,Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Gene3D:3.40.50.300,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF148,PROSITE_profiles:PS51417	.	.	ENSP00000387615	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000444555	Transcript	.	.	ENSG00000141748	31111	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.44)	.	ARL5C_HUMAN	ARL5C	HGNC	.	.	UPI00001600CC	SNV	ARL5C,missense_variant,p.Leu37Phe,ENST00000444555,;ARL5C,missense_variant,p.Leu37Phe,ENST00000269586,;ARL5C,downstream_gene_variant,,ENST00000583123,;ARL5C,upstream_gene_variant,,ENST00000578912,;ARL5C,downstream_gene_variant,,ENST00000581554,;ARL5C,downstream_gene_variant,,ENST00000581255,;	451	119	135	SUCCESS
FBXL20	84961	.	GRCh37	17	37421707	37421707	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	48	0	ENST00000264658.6:c.934-1G>T		p.X312_splice	ENST00000264658	NM_032875.2	312		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32640.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCTGAAA	NONE	.	.	.	.	.	ENSP00000264658	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264658	Transcript	.	.	ENSG00000108306	24679	.	.	HIGH	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL20_HUMAN	FBXL20	HGNC	.	.	UPI000000D932	SNV	FBXL20,splice_acceptor_variant,,ENST00000394294,;FBXL20,splice_acceptor_variant,,ENST00000581781,;FBXL20,splice_acceptor_variant,,ENST00000264658,;FBXL20,splice_acceptor_variant,,ENST00000583610,;FBXL20,splice_acceptor_variant,,ENST00000577399,;	.	48	74	SUCCESS
FZD2	2535	.	GRCh37	17	42635258	42635258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	19	227	0	ENST00000315323.3:c.202G>T	p.Asp68Tyr	p.D68Y	ENST00000315323	NM_001466.3	68	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS11484.1	202	MUTECT|MUSE	.	AGGAGGACGCA	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF34,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000323901	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315323	Transcript	.	.	ENSG00000180340	4040	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	FZD2_HUMAN	FZD2	HGNC	Q86UZ8_HUMAN	.	UPI0000050444	SNV	FZD2,missense_variant,p.Asp68Tyr,ENST00000315323,;	334	227	310	SUCCESS
ANKFN1	162282	.	GRCh37	17	54558126	54558126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	67	0	ENST00000318698.2:c.2047C>T	p.Leu683Phe	p.L683F	ENST00000318698	NM_153228.2	683	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS32686.1	2047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGCTCCAG	BUFFER|p.Y681Y|c.2043C>T|3	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,missense_variant,p.Leu683Phe,ENST00000318698,;ANKFN1,missense_variant,p.Leu683Phe,ENST00000566473,;	2082	67	121	SUCCESS
CLEC10A	10462	.	GRCh37	17	6979004	6979004	+	intron_variant	Intron	DEL	C	C	-	rs149367958	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	41	0	ENST00000254868.4:c.675+46del		p.*225*	ENST00000254868	NM_182906.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11087.1	.	INDELOCATOR*|VARSCANI*|PINDEL	not_provided	CCATTTCCCTAA	NONE	.	.	.	.	.	ENSP00000254868	.	.	.	.	.	.	.	.	.	.	rs149367958	.	PASS	ENST00000254868	Transcript	.	.	ENSG00000132514	16916	.	.	MODIFIER	7/8	PRIMARY	.	.	.	.	3	1	.	21499247	.	.	.	1	CLC10_HUMAN	CLEC10A	HGNC	.	.	UPI0000074738	deletion	CLEC10A,frameshift_variant,p.Glu214LysfsTer29,ENST00000576617,;CLEC10A,intron_variant,,ENST00000254868,;CLEC10A,intron_variant,,ENST00000571664,;CLEC10A,intron_variant,,ENST00000576549,;CLEC10A,intron_variant,,ENST00000416562,;CLEC10A,downstream_gene_variant,,ENST00000571624,;	.	41	39	SUCCESS
APCDD1	147495	.	GRCh37	18	10468488	10468488	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	104	0	ENST00000355285.5:c.81C>T	p.Leu27=	p.L27=	ENST00000355285	NM_153000.4	27	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11849.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCCTTCA	NONE	.	.	hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2	.	.	ENSP00000347433	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355285	Transcript	.	.	ENSG00000154856	15718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,synonymous_variant,p.%3D,ENST00000578882,;APCDD1,synonymous_variant,p.%3D,ENST00000355285,;APCDD1,upstream_gene_variant,,ENST00000584596,;APCDD1,intron_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;	435	104	132	SUCCESS
EMR2	0	.	GRCh37	19	14877174	14877174	+	synonymous_variant	Silent	SNP	G	G	T	rs748645336	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	165	1	ENST00000315576.3:c.507C>A	p.Ser169=	p.S169=	ENST00000315576	NM_013447.3	169	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32935.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCGGAGGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR12011:SF179,hmmpanther:PTHR12011,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000319883	.	7/21	.	.	.	.	.	.	.	.	rs748645336,COSM4074878	7/21	PASS	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,synonymous_variant,p.%3D,ENST00000392965,;EMR2,synonymous_variant,p.%3D,ENST00000392967,;EMR2,synonymous_variant,p.%3D,ENST00000596991,;EMR2,synonymous_variant,p.%3D,ENST00000601345,;EMR2,synonymous_variant,p.%3D,ENST00000315576,;EMR2,intron_variant,,ENST00000392964,;EMR2,intron_variant,,ENST00000594294,;EMR2,intron_variant,,ENST00000595839,;EMR2,intron_variant,,ENST00000353005,;EMR2,intron_variant,,ENST00000594076,;EMR2,intron_variant,,ENST00000346057,;EMR2,intron_variant,,ENST00000353876,;EMR2,downstream_gene_variant,,ENST00000601619,;EMR2,downstream_gene_variant,,ENST00000599423,;EMR2,non_coding_transcript_exon_variant,,ENST00000360222,;EMR2,intron_variant,,ENST00000392962,;EMR2,intron_variant,,ENST00000595208,;	959	166	150	SUCCESS
C19orf35	0	.	GRCh37	19	2280897	2280897	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs980873573	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	27	0	ENST00000342063.3:c.34G>A	p.Glu12Lys	p.E12K	ENST00000342063	NM_198532.2	12	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12087.1	34	RADIA|MUSE	.	GGGCTCGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6	.	.	ENSP00000345102	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000342063	Transcript	.	.	ENSG00000188305	24793	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.113)	.	tolerated(0.82)	.	CS035_HUMAN	C19orf35	HGNC	.	.	UPI00001C0E91	SNV	C19orf35,missense_variant,p.Glu12Lys,ENST00000342063,;C19orf35,missense_variant,p.Glu12Lys,ENST00000590316,;	128	27	39	SUCCESS
THOP1	7064	.	GRCh37	19	2794767	2794767	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	81	0	ENST00000307741.6:c.235A>C	p.Arg79=	p.R79=	ENST00000307741	NM_003249.3	79	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS12095.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGAGGAAT	NONE	.	.	hmmpanther:PTHR11804:SF34,hmmpanther:PTHR11804,Gene3D:2o36A01,Superfamily_domains:SSF55486	.	.	ENSP00000304467	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	SNV	THOP1,synonymous_variant,p.%3D,ENST00000585338,;THOP1,synonymous_variant,p.%3D,ENST00000307741,;THOP1,upstream_gene_variant,,ENST00000586677,;THOP1,non_coding_transcript_exon_variant,,ENST00000585673,;THOP1,intron_variant,,ENST00000586780,;	438	81	69	SUCCESS
RYR1	6261	.	GRCh37	19	39018424	39018424	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	28	101	0	ENST00000359596.3:c.10824G>T	p.Gln3608His	p.Q3608H	ENST00000359596		3608	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS33011.1	10824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGTGGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	73/106	.	.	.	.	.	.	.	.	.	73/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gln544His,ENST00000599547,;RYR1,missense_variant,p.Gln3603His,ENST00000355481,;RYR1,missense_variant,p.Gln3608His,ENST00000359596,;RYR1,missense_variant,p.Gln3608His,ENST00000360985,;RYR1,upstream_gene_variant,,ENST00000601514,;AC067969.1,intron_variant,,ENST00000597015,;RYR1,splice_region_variant,,ENST00000594335,;RYR1,downstream_gene_variant,,ENST00000600337,;	10824	101	112	SUCCESS
BSPH1	100131137	.	GRCh37	19	48495386	48495386	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	71	1	ENST00000344839.3:c.-48T>C		p.*16*	ENST00000344839	NM_001128326.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46135.1	.	RADIA|MUTECT|MUSE	.	TTGTCAGCCAG	NONE	.	.	.	.	.	ENSP00000341762	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000344839	Transcript	.	.	ENSG00000188334	33906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BSPH1_HUMAN	BSPH1	HGNC	.	.	UPI0000E2CEEE	SNV	BSPH1,5_prime_UTR_variant,,ENST00000344839,;ELSPBP1,upstream_gene_variant,,ENST00000597519,;ELSPBP1,upstream_gene_variant,,ENST00000339841,;ELSPBP1,upstream_gene_variant,,ENST00000596043,;	42	72	70	SUCCESS
SYT5	6861	.	GRCh37	19	55687105	55687105	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	60	248	0	ENST00000354308.3:c.512C>G	p.Pro171Arg	p.P171R	ENST00000354308	NM_003180.2	171	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12919.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAGGGTTC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00360	.	.	ENSP00000346265	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000354308	Transcript	.	.	ENSG00000129990	11513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYT5_HUMAN	SYT5	HGNC	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN	.	UPI000013C56F	SNV	SYT5,missense_variant,p.Pro171Arg,ENST00000537500,;SYT5,missense_variant,p.Pro171Arg,ENST00000354308,;SYT5,missense_variant,p.Pro168Arg,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000590859,;SYT5,downstream_gene_variant,,ENST00000589172,;SYT5,downstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,3_prime_UTR_variant,,ENST00000585461,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,upstream_gene_variant,,ENST00000592956,;	882	248	322	SUCCESS
NLRP9	338321	.	GRCh37	19	56244429	56244429	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	45	0	ENST00000332836.2:c.768C>G	p.Ile256Met	p.I256M	ENST00000332836	NM_176820.2	256	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS12934.1	768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGATAAT	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Pfam_domain:PF05729,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000331857	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000332836	Transcript	.	.	ENSG00000185792	22941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	NALP9_HUMAN	NLRP9	HGNC	.	.	UPI00001B6B39	SNV	NLRP9,missense_variant,p.Ile256Met,ENST00000332836,;NLRP9,missense_variant,p.Ile256Met,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	796	45	46	SUCCESS
CD101	9398	.	GRCh37	1	117554255	117554255	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	26	125	0	ENST00000256652.4:c.508G>C	p.Ala170Pro	p.A170P	ENST00000256652	NM_004258.5	170	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS891.1	508	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGCATCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF20,hmmpanther:PTHR12207,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256652	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000256652	Transcript	.	.	ENSG00000134256	5949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.932)	.	deleterious(0.01)	.	IGSF2_HUMAN	CD101	HGNC	.	.	UPI000013CF1F	SNV	CD101,missense_variant,p.Ala170Pro,ENST00000369470,;CD101,missense_variant,p.Ala170Pro,ENST00000256652,;	566	126	205	SUCCESS
PYHIN1	149628	.	GRCh37	1	158906744	158906744	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	24	125	0	ENST00000368140.1:c.44A>G	p.Glu15Gly	p.E15G	ENST00000368140	NM_152501.4	15	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1178.1	44	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGAGGTCA	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200,Pfam_domain:PF02758	.	.	ENSP00000357122	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,missense_variant,p.Glu15Gly,ENST00000368135,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000392254,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000368140,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000458222,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000392252,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000368138,;	289	125	182	SUCCESS
SPEN	23013	.	GRCh37	1	16261862	16261862	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	583	146	647	0	ENST00000375759.3:c.9127A>G	p.Ser3043Gly	p.S3043G	ENST00000375759	NM_015001.2	3043	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS164.1	9127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCAGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Ser3043Gly,ENST00000375759,;SPEN,upstream_gene_variant,,ENST00000487496,;	9331	647	729	SUCCESS
CLCNKB	1188	.	GRCh37	1	16374904	16374904	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1411519836	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	431	54	446	1	ENST00000375679.4:c.565G>C	p.Gly189Arg	p.G189R	ENST00000375679	NM_000085.4	189	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS168.1	565	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGGGGAG	NONE	.	.	Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689:SF78,hmmpanther:PTHR11689	.	.	ENSP00000364831	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000375679	Transcript	.	.	ENSG00000184908	2027	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.325)	.	tolerated(0.07)	.	CLCKB_HUMAN	CLCNKB	HGNC	.	.	UPI000040E261	SNV	CLCNKB,missense_variant,p.Gly189Arg,ENST00000375679,;CLCNKB,upstream_gene_variant,,ENST00000375667,;CLCNKB,upstream_gene_variant,,ENST00000431772,;	676	447	486	SUCCESS
FBXO28	23219	.	GRCh37	1	224345363	224345363	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758652737	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	210	9	145	0	ENST00000366862.5:c.1022A>T	p.Asn341Ile	p.N341I	ENST00000366862	NM_015176.3	341	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS1539.1	1022	MUTECT|MUSE	.	GCAGAATGAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13252	.	.	ENSP00000355827	.	5/5	.	.	.	.	.	.	.	.	rs758652737	5/5	PASS	ENST00000366862	Transcript	.	.	ENSG00000143756	29046	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.202)	.	deleterious(0.05)	.	FBX28_HUMAN	FBXO28	HGNC	B4E0H5_HUMAN	.	UPI000006F1C1	SNV	FBXO28,missense_variant,p.Asn341Ile,ENST00000366862,;FBXO28,3_prime_UTR_variant,,ENST00000424254,;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	1065	145	219	SUCCESS
PIK3CD	5293	.	GRCh37	1	9777146	9777146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	85	217	0	ENST00000377346.4:c.910C>T	p.Pro304Ser	p.P304S	ENST00000377346	NM_005026.3	304	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS104.1	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACCTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048	.	.	ENSP00000366563	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000377346	Transcript	.	.	ENSG00000171608	8977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	tolerated(0.49)	.	PK3CD_HUMAN	PIK3CD	HGNC	B7ZM44_HUMAN	.	UPI000013E807	SNV	PIK3CD,missense_variant,p.Pro269Ser,ENST00000536656,;PIK3CD,missense_variant,p.Pro304Ser,ENST00000377346,;PIK3CD,missense_variant,p.Pro269Ser,ENST00000361110,;PIK3CD,upstream_gene_variant,,ENST00000543390,;PIK3CD,non_coding_transcript_exon_variant,,ENST00000479223,;PIK3CD,downstream_gene_variant,,ENST00000481137,;	1105	217	237	SUCCESS
TMC2	117532	.	GRCh37	20	2591138	2591138	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	31	195	0	ENST00000358864.1:c.1487A>T	p.Tyr496Phe	p.Y496F	ENST00000358864	NM_080751.2	496	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS13029.2	1487	RADIA|MUTECT|MUSE|VARSCANS	.	GAATTACCACC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17	.	.	ENSP00000351732	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000358864	Transcript	.	.	ENSG00000149488	16527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	TMC2_HUMAN	TMC2	HGNC	.	.	UPI0000246C98	SNV	TMC2,missense_variant,p.Tyr496Phe,ENST00000358864,;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	1502	195	234	SUCCESS
LPIN3	64900	.	GRCh37	20	39985824	39985824	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	79	147	1	ENST00000373257.3:c.1948A>G	p.Thr650Ala	p.T650A	ENST00000373257	NM_022896.1	650	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33469.1	1948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCACCAAG	NONE	.	.	hmmpanther:PTHR12181:SF32,hmmpanther:PTHR12181,Gene3D:3.40.50.1000,Pfam_domain:PF08235,SMART_domains:SM00775,Superfamily_domains:SSF56784	.	.	ENSP00000362354	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000373257	Transcript	.	.	ENSG00000132793	14451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LPIN3_HUMAN	LPIN3	HGNC	.	.	UPI0000470AE3	SNV	LPIN3,missense_variant,p.Thr650Ala,ENST00000373257,;LPIN3,missense_variant,p.Thr140Ala,ENST00000445975,;EMILIN3,downstream_gene_variant,,ENST00000332312,;LPIN3,non_coding_transcript_exon_variant,,ENST00000496565,;LPIN3,upstream_gene_variant,,ENST00000491528,;	2039	148	223	SUCCESS
PHACTR3	116154	.	GRCh37	20	58416548	58416548	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	34	189	0	ENST00000371015.1:c.1545G>A	p.Arg515=	p.R515=	ENST00000371015	NM_080672.4	515	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13480.1	1545	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGAGGGC	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	11/13	.	.	.	.	.	.	.	.	COSM343583	11/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,synonymous_variant,p.%3D,ENST00000541461,;PHACTR3,synonymous_variant,p.%3D,ENST00000395636,;PHACTR3,synonymous_variant,p.%3D,ENST00000395639,;PHACTR3,synonymous_variant,p.%3D,ENST00000359926,;PHACTR3,synonymous_variant,p.%3D,ENST00000355648,;PHACTR3,synonymous_variant,p.%3D,ENST00000361300,;PHACTR3,synonymous_variant,p.%3D,ENST00000371015,;PHACTR3,non_coding_transcript_exon_variant,,ENST00000492611,;PHACTR3,upstream_gene_variant,,ENST00000473657,;	2012	189	220	SUCCESS
STMN3	50861	.	GRCh37	20	62275626	62275626	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484691556	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	37	77	0	ENST00000370053.1:c.56C>T	p.Ser19Leu	p.S19L	ENST00000370053	NM_015894.3	19	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS13529.1	56	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGACAGC	NONE	.	.	hmmpanther:PTHR10104:SF17,hmmpanther:PTHR10104,PIRSF_domain:PIRSF002285	.	.	ENSP00000359070	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000370053	Transcript	.	.	ENSG00000197457	15926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious(0.01)	.	STMN3_HUMAN	STMN3	HGNC	B7Z5G4_HUMAN	.	UPI000013611C	SNV	STMN3,missense_variant,p.Ser19Leu,ENST00000370053,;STMN3,missense_variant,p.Ser8Leu,ENST00000540534,;	138	77	115	SUCCESS
ANGPT4	51378	.	GRCh37	20	861812	861812	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	48	111	0	ENST00000381922.3:c.951+2T>G		p.X317_splice	ENST00000381922	NM_015985.2	317		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13009.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTAACCTTC	NONE	.	.	.	.	.	ENSP00000371347	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381922	Transcript	.	.	ENSG00000101280	487	.	.	HIGH	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGP4_HUMAN	ANGPT4	HGNC	.	.	UPI0000062232	SNV	ANGPT4,splice_donor_variant,,ENST00000546022,;ANGPT4,splice_donor_variant,,ENST00000381922,;	.	111	135	SUCCESS
TTC3	7267	.	GRCh37	21	38538717	38538717	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	55	142	0	ENST00000354749.2:c.4201G>A	p.Ala1401Thr	p.A1401T	ENST00000354749		1401	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13651.1	4201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGCCTCT	NONE	.	.	hmmpanther:PTHR17550	.	.	ENSP00000381981	.	33/46	.	.	.	.	.	.	.	.	.	33/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.18)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Ala1401Thr,ENST00000354749,;TTC3,missense_variant,p.Ala1401Thr,ENST00000355666,;TTC3,missense_variant,p.Ala1401Thr,ENST00000399017,;TTC3,downstream_gene_variant,,ENST00000438055,;TTC3,downstream_gene_variant,,ENST00000418766,;TTC3,downstream_gene_variant,,ENST00000411496,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,downstream_gene_variant,,ENST00000487711,;TTC3,downstream_gene_variant,,ENST00000469939,;TTC3,downstream_gene_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;	6948	142	196	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43808542	43808542	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1255143070	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	85	159	0	ENST00000291532.3:c.416A>G	p.Asn139Ser	p.N139S	ENST00000291532	NM_032404.2	139	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13686.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATTTGCG	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,PROSITE_patterns:PS00420,Pfam_domain:PF15494,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000291532	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.58)	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,missense_variant,p.Asn139Ser,ENST00000433957,;TMPRSS3,missense_variant,p.Asn137Ser,ENST00000398405,;TMPRSS3,missense_variant,p.Asn223Ser,ENST00000380399,;TMPRSS3,missense_variant,p.Asn139Ser,ENST00000291532,;TMPRSS3,missense_variant,p.Asn139Ser,ENST00000398397,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;TMPRSS3,upstream_gene_variant,,ENST00000476848,;	1372	159	260	SUCCESS
RIMBP3	85376	.	GRCh37	22	20458280	20458280	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	38	177	1	ENST00000426804.1:c.3022T>G	p.Ser1008Ala	p.S1008A	ENST00000426804	NM_015672.1	1008	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS46665.1	3022	RADIA|VARSCANS	.	GGCTGATGTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.187)	.	deleterious(0.03)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Ser1008Ala,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3507	178	211	SUCCESS
SLC20A1	6574	.	GRCh37	2	113416962	113416962	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	84	236	0	ENST00000272542.3:c.1230A>G	p.Lys410=	p.K410=	ENST00000272542	NM_005415.4	410	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS2099.1	1230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAACCCTT	NONE	.	.	hmmpanther:PTHR11101:SF46,hmmpanther:PTHR11101,Pfam_domain:PF01384	.	.	ENSP00000272542	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000272542	Transcript	.	.	ENSG00000144136	10946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S20A1_HUMAN	SLC20A1	HGNC	A7LNJ1_HUMAN	.	UPI0000071362	SNV	SLC20A1,synonymous_variant,p.%3D,ENST00000433924,;SLC20A1,synonymous_variant,p.%3D,ENST00000272542,;SLC20A1,downstream_gene_variant,,ENST00000480984,;SLC20A1,3_prime_UTR_variant,,ENST00000413135,;SLC20A1,non_coding_transcript_exon_variant,,ENST00000490674,;SLC20A1,downstream_gene_variant,,ENST00000498224,;SLC20A1,downstream_gene_variant,,ENST00000456264,;	1769	237	259	SUCCESS
IL36B	27177	.	GRCh37	2	113786633	113786633	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	96	0	ENST00000259213.4:c.144T>A	p.Cys48Ter	p.C48*	ENST00000259213	NM_014438.4	48	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS2109.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTACAGGC	NONE	.	.	hmmpanther:PTHR10078,hmmpanther:PTHR10078:SF11,Gene3D:2.80.10.50,Superfamily_domains:SSF50353	.	.	ENSP00000259213	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000259213	Transcript	.	.	ENSG00000136696	15564	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL36B_HUMAN	IL36B	HGNC	.	.	UPI000003C9C0	SNV	IL36B,stop_gained,p.Cys48Ter,ENST00000327407,;IL36B,stop_gained,p.Cys48Ter,ENST00000259213,;	252	96	109	SUCCESS
GLI2	2736	.	GRCh37	2	121747764	121747764	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748233304	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	87	0	ENST00000361492.4:c.4274G>T	p.Gly1425Val	p.G1425V	ENST00000361492	NM_005270.4	1425	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33283.1	4274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGGTCGG	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	rs748233304	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.4)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Gly1425Val,ENST00000452319,;GLI2,missense_variant,p.Gly1425Val,ENST00000361492,;GLI2,intron_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	4334	87	126	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131674421	131674421	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	105	0	ENST00000326016.5:c.-322A>T		p.*108*	ENST00000326016	NM_015320.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCACCCTA	NONE	.	.	.	.	.	ENSP00000316845	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Thr638Ser,ENST00000409359,;ARHGEF4,5_prime_UTR_variant,,ENST00000392953,;ARHGEF4,5_prime_UTR_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	198	106	99	SUCCESS
TTN	7273	.	GRCh37	2	179424403	179424403	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	20	149	0	ENST00000591111.1:c.81533A>G	p.Asp27178Gly	p.D27178G	ENST00000591111		27178	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS59435.1	86456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTCATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp19879Gly,ENST00000359218,;TTN,missense_variant,p.Asp27178Gly,ENST00000591111,;TTN,missense_variant,p.Asp28819Gly,ENST00000589042,;TTN,missense_variant,p.Asp19946Gly,ENST00000342175,;TTN,missense_variant,p.Asp26251Gly,ENST00000342992,;TTN,missense_variant,p.Asp19754Gly,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	86681	149	124	SUCCESS
COL3A1	1281	.	GRCh37	2	189873705	189873705	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1553509744	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	119	0	ENST00000304636.3:c.3581G>A	p.Gly1194Asp	p.G1194D	ENST00000304636	NM_000090.3	1194	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS2297.1	3581	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGTCCTT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	48/51	.	.	.	.	.	.	.	.	.	48/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Gly891Asp,ENST00000317840,;COL3A1,missense_variant,p.Gly1194Asp,ENST00000304636,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;	3751	119	97	SUCCESS
CAPN13	92291	.	GRCh37	2	30980909	30980909	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	51	0	ENST00000295055.8:c.866+3A>G		p.X289_splice	ENST00000295055	NM_144575.2	289		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46252.1	.	RADIA|MUSE|VARSCANS	.	AGCCATACCCA	NONE	.	.	.	.	.	ENSP00000295055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	8/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,splice_region_variant,,ENST00000534090,;CAPN13,splice_region_variant,,ENST00000295055,;CAPN13,downstream_gene_variant,,ENST00000465960,;CAPN13,splice_region_variant,,ENST00000458085,;	.	51	91	SUCCESS
ASTL	431705	.	GRCh37	2	96803391	96803391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	12	62	0	ENST00000342380.2:c.104G>A	p.Gly35Asp	p.G35D	ENST00000342380	NM_001002036.3	35	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33249.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTACCACAG	NONE	.	.	.	.	.	ENSP00000343674	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.35)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Gly35Asp,ENST00000342380,;ASTL,non_coding_transcript_exon_variant,,ENST00000470582,;	104	62	78	SUCCESS
ZBTB11	27107	.	GRCh37	3	101383939	101383939	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370264120	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	19	121	0	ENST00000312938.4:c.1492C>T	p.Pro498Ser	p.P498S	ENST00000312938	NM_014415.3	498	Cct/Tct	0	A:0.0002	.	.	.	.	A	P/S	protein_coding	YES	CCDS2943.1	1492	RADIA|MUSE|VARSCANS	.	ATCAGGGCCAA	NONE	.	.	hmmpanther:PTHR24387:SF4,hmmpanther:PTHR24387	.	A:0	ENSP00000326200	.	4/11	.	.	.	.	.	.	.	.	rs370264120	4/11	PASS	ENST00000312938	Transcript	.	.	ENSG00000066422	16740	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.49)	.	ZBT11_HUMAN	ZBTB11	HGNC	Q59H97_HUMAN,B3KN38_HUMAN	.	UPI000013D5E3	SNV	ZBTB11,missense_variant,p.Pro498Ser,ENST00000312938,;Y_RNA,upstream_gene_variant,,ENST00000364251,;	2073	121	169	SUCCESS
CD200	4345	.	GRCh37	3	112066565	112066565	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	29	118	1	ENST00000473539.1:c.657T>A	p.Ser219=	p.S219=	ENST00000473539	NM_001004196.2	219	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33818.1	657	RADIA|MUTECT|MUSE	.	ACGTCTGTTAC	NONE	.	.	hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49,Pfam_domain:PF00047,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000420298	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000473539	Transcript	.	.	ENSG00000091972	7203	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OX2G_HUMAN	CD200	HGNC	U3KQQ2_HUMAN,F8W7G1_HUMAN	.	UPI00004DF0E4	SNV	CD200,synonymous_variant,p.%3D,ENST00000315711,;CD200,synonymous_variant,p.%3D,ENST00000383681,;CD200,synonymous_variant,p.%3D,ENST00000473539,;CD200,synonymous_variant,p.%3D,ENST00000606471,;CD200,downstream_gene_variant,,ENST00000607597,;CD200,3_prime_UTR_variant,,ENST00000498096,;CD200,3_prime_UTR_variant,,ENST00000478595,;	714	119	172	SUCCESS
CAND2	23066	.	GRCh37	3	12861637	12861637	+	synonymous_variant	Silent	SNP	G	G	C	rs145134860	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	48	116	0	ENST00000456430.2:c.2997G>C	p.Ser999=	p.S999=	ENST00000456430	NM_001162499.1	999	tcG/tcC	0	A:0	A:0	.	A:0.0014	.	C	S	protein_coding	YES	CCDS54554.1	2997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCGGACCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	A:0.001	A:0.0002	ENSP00000387641	A:0.002	11/15	.	.	.	.	.	.	.	.	rs145134860	11/15	PASS	ENST00000456430	Transcript	.	A:0.0010	ENSG00000144712	30689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,synonymous_variant,p.%3D,ENST00000456430,;CAND2,synonymous_variant,p.%3D,ENST00000295989,;	3038	116	176	SUCCESS
CAND2	23066	.	GRCh37	3	12861638	12861638	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	48	114	0	ENST00000456430.2:c.2998G>T	p.Asp1000Tyr	p.D1000Y	ENST00000456430	NM_001162499.1	1000	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54554.1	2998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCGGACCAG	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Asp1000Tyr,ENST00000456430,;CAND2,missense_variant,p.Asp907Tyr,ENST00000295989,;	3039	114	176	SUCCESS
HTR3C	170572	.	GRCh37	3	183777775	183777775	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs556123764	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	62	0	ENST00000318351.1:c.1085C>A	p.Pro362His	p.P362H	ENST00000318351	NM_130770.2	362	cCc/cAc	0	.	A:0	.	A:0.0014	.	A	P/H	protein_coding	YES	CCDS3250.1	1085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCACTG	NONE	by1000G	.	hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	A:0	.	ENSP00000322617	A:0	8/9	.	.	.	.	.	.	.	.	rs556123764	8/9	PASS	ENST00000318351	Transcript	.	A:0.0002	ENSG00000178084	24003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	A:0	deleterious(0.01)	.	5HT3C_HUMAN	HTR3C	HGNC	.	.	UPI00001402D6	SNV	HTR3C,missense_variant,p.Pro362His,ENST00000318351,;	1119	62	62	SUCCESS
HTR3C	170572	.	GRCh37	3	183777776	183777776	+	synonymous_variant	Silent	SNP	C	C	A	rs575185101	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	62	0	ENST00000318351.1:c.1086C>A	p.Pro362=	p.P362=	ENST00000318351	NM_130770.2	362	ccC/ccA	0	.	G:0	.	G:0.0014	.	A	P	protein_coding	YES	CCDS3250.1	1086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCACTGC	NONE	by1000G	.	hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	G:0	.	ENSP00000322617	G:0	8/9	.	.	.	.	.	.	.	.	rs575185101	8/9	PASS	ENST00000318351	Transcript	.	G:0.0002	ENSG00000178084	24003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	5HT3C_HUMAN	HTR3C	HGNC	.	.	UPI00001402D6	SNV	HTR3C,synonymous_variant,p.%3D,ENST00000318351,;	1120	62	62	SUCCESS
TCAIM	285343	.	GRCh37	3	44442771	44442771	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	44	0	ENST00000342649.4:c.1195T>A	p.Trp399Arg	p.W399R	ENST00000342649	NM_173826.3	399	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS2712.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTGGTTT	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.36)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Trp399Arg,ENST00000342649,;TCAIM,missense_variant,p.Trp399Arg,ENST00000417237,;TCAIM,non_coding_transcript_exon_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;TCAIM,downstream_gene_variant,,ENST00000417768,;	1622	44	73	SUCCESS
TREX1	11277	.	GRCh37	3	48508185	48508185	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	59	159	1	ENST00000422277.2:c.296T>C	p.Leu99Pro	p.L99P	ENST00000422277	NM_016381.4	99	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS43086.1	296	RADIA|SOMATICSNIPER|VARSCANS	.	TGCCCTGGAGA	NONE	.	.	hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF12,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000390478	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000422277	Transcript	.	.	ENSG00000213689	12269	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TREX1_HUMAN	TREX1	HGNC	Q5TZT0_HUMAN,C9J052_HUMAN	.	UPI00000411D8	SNV	TREX1,missense_variant,p.Leu34Pro,ENST00000444177,;TREX1,missense_variant,p.Leu44Pro,ENST00000296443,;TREX1,missense_variant,p.Leu99Pro,ENST00000422277,;TREX1,missense_variant,p.Leu44Pro,ENST00000436480,;TREX1,5_prime_UTR_variant,,ENST00000433541,;TREX1,intron_variant,,ENST00000456089,;ATRIP,downstream_gene_variant,,ENST00000320211,;SHISA5,downstream_gene_variant,,ENST00000296444,;SHISA5,downstream_gene_variant,,ENST00000442747,;ATRIP,downstream_gene_variant,,ENST00000357105,;SHISA5,downstream_gene_variant,,ENST00000444115,;SHISA5,downstream_gene_variant,,ENST00000417841,;ATRIP,downstream_gene_variant,,ENST00000346691,;ATRIP,downstream_gene_variant,,ENST00000412052,;SHISA5,downstream_gene_variant,,ENST00000426002,;SHISA5,downstream_gene_variant,,ENST00000443308,;TREX1,non_coding_transcript_exon_variant,,ENST00000492235,;SHISA5,downstream_gene_variant,,ENST00000486344,;SHISA5,downstream_gene_variant,,ENST00000466424,;SHISA5,downstream_gene_variant,,ENST00000465449,;TREX1,non_coding_transcript_exon_variant,,ENST00000395677,;SHISA5,downstream_gene_variant,,ENST00000494854,;SHISA5,downstream_gene_variant,,ENST00000460758,;ATRIP,downstream_gene_variant,,ENST00000424906,;SHISA5,downstream_gene_variant,,ENST00000417962,;SHISA5,downstream_gene_variant,,ENST00000415268,;SHISA5,downstream_gene_variant,,ENST00000424965,;SHISA5,downstream_gene_variant,,ENST00000497863,;	957	161	191	SUCCESS
CIDEC	63924	.	GRCh37	3	9911995	9911995	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	45	0	ENST00000336832.2:c.219T>C	p.Thr73=	p.T73=	ENST00000336832	NM_022094.3	73	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS56239.1	249	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAGTGTC	NONE	.	.	Superfamily_domains:SSF54277,SMART_domains:SM00266,Pfam_domain:PF02017,Gene3D:3.10.20.10,hmmpanther:PTHR12306:SF9,hmmpanther:PTHR12306,PROSITE_profiles:PS51135	.	.	ENSP00000408631	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000430427	Transcript	.	.	ENSG00000187288	24229	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CIDEC_HUMAN	CIDEC	HGNC	.	.	UPI000020AADB	SNV	CIDEC,synonymous_variant,p.%3D,ENST00000336832,;CIDEC,synonymous_variant,p.%3D,ENST00000430427,;CIDEC,5_prime_UTR_variant,,ENST00000455015,;CIDEC,5_prime_UTR_variant,,ENST00000423850,;CIDEC,intron_variant,,ENST00000383817,;CIDEC,intron_variant,,ENST00000443115,;	274	45	60	SUCCESS
DNAJB14	79982	.	GRCh37	4	100844269	100844270	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	157	43	146	0	ENST00000442697.2:c.378dup	p.Ala127SerfsTer3	p.A127Sfs*3	ENST00000442697	NM_001278310.1	126	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS34035.1	378-379	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAAGCTTTTT	NONE	.	.	Prints_domain:PR00625,Superfamily_domains:SSF46565,SMART_domains:SM00271,Gene3D:1.10.287.110,Pfam_domain:PF00226,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF212,PROSITE_profiles:PS50076	.	.	ENSP00000404381	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000442697	Transcript	.	.	ENSG00000164031	25881	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DJB14_HUMAN	DNAJB14	HGNC	F2Z2L8_HUMAN	.	UPI0000072A32	insertion	DNAJB14,frameshift_variant,p.Ala127SerfsTer3,ENST00000442697,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000493110,;DNAJB14,downstream_gene_variant,,ENST00000471738,;DNAJB14,3_prime_UTR_variant,,ENST00000398991,;DNAJB14,3_prime_UTR_variant,,ENST00000334223,;DNAJB14,3_prime_UTR_variant,,ENST00000420137,;DNAJB14,3_prime_UTR_variant,,ENST00000426476,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000474664,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000471101,;DNAJB14,downstream_gene_variant,,ENST00000469942,;	533-534	146	200	SUCCESS
TACR3	6870	.	GRCh37	4	104640550	104640550	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139574028	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	9	169	0	ENST00000304883.2:c.283G>T	p.Val95Leu	p.V95L	ENST00000304883	NM_001059.2	95	Gtg/Ttg	0	A:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS3664.1	283	MUTECT|MUSE	.	CACCACCACAC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0006	ENSP00000303325	.	1/5	.	.	.	.	.	.	.	.	rs139574028	1/5	PASS	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.53)	.	tolerated(0.32)	.	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	SNV	TACR3,missense_variant,p.Val95Leu,ENST00000304883,;	424	169	153	SUCCESS
PCDH18	54510	.	GRCh37	4	138450774	138450774	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375416110	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	51	163	0	ENST00000344876.4:c.2469C>A	p.His823Gln	p.H823Q	ENST00000344876	NM_019035.3	823	caC/caA	0	A:0	.	.	.	.	T	H/Q	protein_coding	YES	CCDS34064.1	2469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTGGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9	.	A:0.0001	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	rs375416110	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.25)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.His34Gln,ENST00000510305,;PCDH18,missense_variant,p.His823Gln,ENST00000344876,;PCDH18,missense_variant,p.His603Gln,ENST00000507846,;PCDH18,missense_variant,p.His823Gln,ENST00000412923,;PCDH18,intron_variant,,ENST00000511115,;	2856	163	155	SUCCESS
TMEM232	642987	.	GRCh37	5	109976647	109976647	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	97	243	0	ENST00000455884.2:c.288T>A	p.Pro96=	p.P96=	ENST00000455884		96	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47253.2	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGGAAG	NONE	.	.	.	.	.	ENSP00000401477	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000455884	Transcript	.	.	ENSG00000186952	37270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM232_HUMAN	TMEM232	HGNC	D6REY3_HUMAN,D6RC30_HUMAN	.	UPI00017A7675	SNV	TMEM232,synonymous_variant,p.%3D,ENST00000511883,;TMEM232,synonymous_variant,p.%3D,ENST00000429839,;TMEM232,synonymous_variant,p.%3D,ENST00000515278,;TMEM232,synonymous_variant,p.%3D,ENST00000512886,;TMEM232,synonymous_variant,p.%3D,ENST00000455884,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,intron_variant,,ENST00000512003,;	339	243	332	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140348025	140348025	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	53	118	0	ENST00000289269.5:c.1674A>G	p.Pro558=	p.P558=	ENST00000289269	NM_018899.5	558	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4242.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCACTGAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,PROSITE_profiles:PS50268	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,synonymous_variant,p.%3D,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2206	118	147	SUCCESS
PRELID1	27166	.	GRCh37	5	176732982	176732982	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	53	1	ENST00000303204.4:c.429C>G	p.Val143=	p.V143=	ENST00000303204	NM_013237.3	143	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4415.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCCAGGT	NONE	.	.	Pfam_domain:PF04707,hmmpanther:PTHR11158:SF21,hmmpanther:PTHR11158,PROSITE_profiles:PS50904	.	.	ENSP00000302114	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000303204	Transcript	.	.	ENSG00000169230	30255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRLD1_HUMAN	PRELID1	HGNC	.	.	UPI0000070DF2	SNV	PRELID1,synonymous_variant,p.%3D,ENST00000303204,;PRELID1,synonymous_variant,p.%3D,ENST00000503853,;PRELID1,synonymous_variant,p.%3D,ENST00000503216,;MXD3,3_prime_UTR_variant,,ENST00000427908,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;RAB24,upstream_gene_variant,,ENST00000504395,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;PRELID1,3_prime_UTR_variant,,ENST00000510797,;PRELID1,3_prime_UTR_variant,,ENST00000504594,;PRELID1,non_coding_transcript_exon_variant,,ENST00000511309,;PRELID1,non_coding_transcript_exon_variant,,ENST00000510701,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;MXD3,downstream_gene_variant,,ENST00000503782,;RAB24,upstream_gene_variant,,ENST00000512758,;RAB24,upstream_gene_variant,,ENST00000495458,;	641	54	69	SUCCESS
MIR1229	100302156	.	GRCh37	5	179225329	179225329	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	74	1	ENST00000408467.1:n.18G>T		p.*6*	ENST00000408467				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4449.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCCCCCA	NONE	.	.	.	.	.	ENSP00000338487	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337755	Transcript	.	.	ENSG00000161013	7048	.	.	MODIFIER	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT4B_HUMAN	MGAT4B	HGNC	E5RFS3_HUMAN	.	UPI000015F50B	SNV	MGAT4B,intron_variant,,ENST00000520875,;MGAT4B,intron_variant,,ENST00000518778,;MGAT4B,intron_variant,,ENST00000292591,;MGAT4B,intron_variant,,ENST00000519836,;MGAT4B,intron_variant,,ENST00000520969,;MGAT4B,intron_variant,,ENST00000518980,;MGAT4B,intron_variant,,ENST00000337755,;LTC4S,downstream_gene_variant,,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000518867,;LTC4S,downstream_gene_variant,,ENST00000292596,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,non_coding_transcript_exon_variant,,ENST00000408467,;MGAT4B,intron_variant,,ENST00000523382,;MGAT4B,intron_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000519616,;MAML1,downstream_gene_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,downstream_gene_variant,,ENST00000520134,;MGAT4B,intron_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000518168,;LTC4S,downstream_gene_variant,,ENST00000505170,;MGAT4B,downstream_gene_variant,,ENST00000523329,;MGAT4B,downstream_gene_variant,,ENST00000521855,;LTC4S,downstream_gene_variant,,ENST00000465572,;MGAT4B,downstream_gene_variant,,ENST00000520918,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000520822,;LTC4S,downstream_gene_variant,,ENST00000486713,;MGAT4B,downstream_gene_variant,,ENST00000518702,;LTC4S,downstream_gene_variant,,ENST00000509898,;	.	75	116	SUCCESS
IRX1	79192	.	GRCh37	5	3599429	3599429	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	12	83	0	ENST00000302006.3:c.367T>A	p.Phe123Ile	p.F123I	ENST00000302006	NM_024337.3	123	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS34132.1	367	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTTCCAA	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Phe123Ile,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	419	83	108	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79733987	79733987	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	6	84	0	ENST00000338008.5:c.1483T>G	p.Cys495Gly	p.C495G	ENST00000338008	NM_014733.3	495	Tgt/Ggt	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS4050.1	1483	MUTECT|MUSE	.	CTGATTGTTGT	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43,PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.33)	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,missense_variant,p.Cys495Gly,ENST00000338008,;ZFYVE16,missense_variant,p.Cys495Gly,ENST00000505560,;ZFYVE16,missense_variant,p.Cys495Gly,ENST00000510158,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,upstream_gene_variant,,ENST00000511829,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000509558,;	1663	84	131	SUCCESS
ROS1	6098	.	GRCh37	6	117709158	117709158	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	40	72	0	ENST00000368508.3:c.1799T>G	p.Leu600Ter	p.L600*	ENST00000368508	NM_002944.2	600	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS5116.1	1799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTAATTCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000357494	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,stop_gained,p.Leu600Ter,ENST00000368508,;ROS1,splice_region_variant,,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;	1998	72	72	SUCCESS
APOM	55937	.	GRCh37	6	31623724	31623724	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	40	109	0	ENST00000375916.3:c.-20C>T		p.*7*	ENST00000375916	NM_019101.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4710.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCAGCTC	NONE	.	.	.	.	.	ENSP00000365081	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000375916	Transcript	.	.	ENSG00000204444	13916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOM_HUMAN	APOM	HGNC	.	.	UPI00000369DE	SNV	APOM,5_prime_UTR_variant,,ENST00000375916,;APOM,intron_variant,,ENST00000375918,;APOM,intron_variant,,ENST00000375920,;BAG6,upstream_gene_variant,,ENST00000375976,;BAG6,upstream_gene_variant,,ENST00000424176,;BAG6,upstream_gene_variant,,ENST00000362049,;BAG6,upstream_gene_variant,,ENST00000435080,;BAG6,upstream_gene_variant,,ENST00000437771,;BAG6,upstream_gene_variant,,ENST00000375964,;BAG6,upstream_gene_variant,,ENST00000441054,;BAG6,upstream_gene_variant,,ENST00000454165,;BAG6,upstream_gene_variant,,ENST00000452994,;BAG6,upstream_gene_variant,,ENST00000211379,;C6orf47,downstream_gene_variant,,ENST00000375911,;BAG6,upstream_gene_variant,,ENST00000451898,;BAG6,upstream_gene_variant,,ENST00000428326,;BAG6,upstream_gene_variant,,ENST00000404765,;BAG6,upstream_gene_variant,,ENST00000456622,;BAG6,upstream_gene_variant,,ENST00000434444,;BAG6,upstream_gene_variant,,ENST00000439687,;BAG6,upstream_gene_variant,,ENST00000424480,;BAG6,upstream_gene_variant,,ENST00000456286,;BAG6,upstream_gene_variant,,ENST00000433828,;C6orf47-AS1,upstream_gene_variant,,ENST00000422049,;	477	109	144	SUCCESS
DST	667	.	GRCh37	6	56494239	56494239	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	44	0	ENST00000244364.6:c.2673A>T	p.Gln891His	p.Q891H	ENST00000244364	NM_015548.4	891	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47443.1	2673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATTGCTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38	.	.	ENSP00000244364	.	18/84	.	.	.	.	.	.	.	.	.	18/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Gln891His,ENST00000439203,;DST,missense_variant,p.Gln891His,ENST00000446842,;DST,missense_variant,p.Gln1217His,ENST00000370788,;DST,missense_variant,p.Gln891His,ENST00000244364,;DST,missense_variant,p.Gln1257His,ENST00000520645,;DST,missense_variant,p.Gln891His,ENST00000370765,;DST,missense_variant,p.Gln1395His,ENST00000370754,;DST,missense_variant,p.Gln1217His,ENST00000361203,;DST,missense_variant,p.Gln1217His,ENST00000370769,;DST,missense_variant,p.Gln1217His,ENST00000312431,;DST,missense_variant,p.Gln1217His,ENST00000421834,;DST,missense_variant,p.Gln891His,ENST00000518935,;DST,upstream_gene_variant,,ENST00000522360,;	2881	44	57	SUCCESS
ASB10	136371	.	GRCh37	7	150878543	150878543	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	77	0	ENST00000420175.2:c.587G>A	p.Cys196Tyr	p.C196Y	ENST00000420175		196	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47750.2	587	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACACCTA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000391137	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Cys196Tyr,ENST00000275838,;ASB10,missense_variant,p.Cys241Tyr,ENST00000434669,;ASB10,missense_variant,p.Cys181Tyr,ENST00000377867,;ASB10,missense_variant,p.Cys196Tyr,ENST00000420175,;ASB10,missense_variant,p.Cys241Tyr,ENST00000422024,;	612	77	106	SUCCESS
DPY19L1	23333	.	GRCh37	7	35013135	35013135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	34	105	0	ENST00000310974.4:c.686A>G	p.His229Arg	p.H229R	ENST00000310974	NM_015283.1	229	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS43567.1	686	RADIA|MUTECT|MUSE	.	GAATATGAGTC	NONE	.	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	.	.	ENSP00000308695	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000310974	Transcript	.	.	ENSG00000173852	22205	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	tolerated(0.1)	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,missense_variant,p.His229Arg,ENST00000310974,;DPY19L1,missense_variant,p.His28Arg,ENST00000446375,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000462134,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000463538,;	831	105	122	SUCCESS
DPY19L1	23333	.	GRCh37	7	35013143	35013143	+	synonymous_variant	Silent	SNP	T	T	C	rs199681894	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	35	106	0	ENST00000310974.4:c.678A>G	p.Leu226=	p.L226=	ENST00000310974	NM_015283.1	226	ctA/ctG	0	.	A:0	.	A:0	.	C	L	protein_coding	YES	CCDS43567.1	678	RADIA|MUTECT|MUSE	.	GTCACTAGCAA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	A:0.001	.	ENSP00000308695	A:0.004	8/22	.	.	.	.	.	.	.	.	rs199681894	8/22	PASS	ENST00000310974	Transcript	.	A:0.0012	ENSG00000173852	22205	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.001	.	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,synonymous_variant,p.%3D,ENST00000310974,;DPY19L1,synonymous_variant,p.%3D,ENST00000446375,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000462134,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000463538,;	823	106	122	SUCCESS
PGAM2	5224	.	GRCh37	7	44105137	44105137	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	90	0	ENST00000297283.3:c.-9G>T		p.*3*	ENST00000297283	NM_000290.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34624.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCAGGGA	NONE	.	.	.	.	.	ENSP00000297283	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000297283	Transcript	.	.	ENSG00000164708	8889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGAM2_HUMAN	PGAM2	HGNC	.	.	UPI000013E3E8	SNV	PGAM2,5_prime_UTR_variant,,ENST00000297283,;DBNL,3_prime_UTR_variant,,ENST00000432854,;DBNL,downstream_gene_variant,,ENST00000448521,;DBNL,downstream_gene_variant,,ENST00000452661,;DBNL,downstream_gene_variant,,ENST00000456905,;DBNL,downstream_gene_variant,,ENST00000494774,;DBNL,downstream_gene_variant,,ENST00000452943,;DBNL,downstream_gene_variant,,ENST00000468694,;DBNL,downstream_gene_variant,,ENST00000490734,;DBNL,downstream_gene_variant,,ENST00000440166,;AC017116.11,intron_variant,,ENST00000425727,;AC017116.11,intron_variant,,ENST00000445938,;DBNL,downstream_gene_variant,,ENST00000497184,;DBNL,downstream_gene_variant,,ENST00000498733,;DBNL,downstream_gene_variant,,ENST00000449997,;DBNL,downstream_gene_variant,,ENST00000429716,;DBNL,downstream_gene_variant,,ENST00000411855,;DBNL,downstream_gene_variant,,ENST00000441840,;	50	90	120	SUCCESS
PEG10	23089	.	GRCh37	7	94293118	94293118	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	35	112	0	ENST00000482108.1:c.250G>A	p.Glu84Lys	p.E84K	ENST00000482108	NM_001172437.1	84	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55126.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGAGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.08)	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,missense_variant,p.Glu84Lys,ENST00000482108,;PEG10,missense_variant,p.Glu84Lys,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	729	112	166	SUCCESS
UBR5	51366	.	GRCh37	8	103324043	103324043	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1212222560	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	48	175	0	ENST00000520539.1:c.2338C>G	p.Gln780Glu	p.Q780E	ENST00000520539	NM_015902.5	780	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS34933.1	2338	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGTTCTG	NONE	.	.	hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254	.	.	ENSP00000429084	.	19/59	.	.	.	.	.	.	.	.	.	19/59	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.759)	.	deleterious(0.01)	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,missense_variant,p.Gln780Glu,ENST00000520539,;UBR5,missense_variant,p.Gln780Glu,ENST00000220959,;UBR5,missense_variant,p.Gln774Glu,ENST00000521922,;	2945	175	336	SUCCESS
ADCY8	114	.	GRCh37	8	131949435	131949435	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	45	126	0	ENST00000286355.5:c.1365C>T	p.Cys455=	p.C455=	ENST00000286355	NM_001115.2	455	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS6363.1	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGGCAGTG	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000522949,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;RP11-737F9.1,intron_variant,,ENST00000523318,;	3458	126	205	SUCCESS
SLC45A4	57210	.	GRCh37	8	142231676	142231676	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1316871815	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	41	102	0	ENST00000024061.3:c.277G>A	p.Gly93Ser	p.G93S	ENST00000024061	NM_001080431.1	93	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS34948.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCGATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473	.	.	ENSP00000024061	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.07)	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,missense_variant,p.Gly93Ser,ENST00000024061,;SLC45A4,missense_variant,p.Gly86Ser,ENST00000433583,;SLC45A4,missense_variant,p.Gly144Ser,ENST00000517878,;SLC45A4,missense_variant,p.Gly93Ser,ENST00000519067,;SLC45A4,missense_variant,p.Gly75Ser,ENST00000519986,;SLC45A4,splice_region_variant,,ENST00000520137,;	585	102	208	SUCCESS
MTAP	4507	.	GRCh37	9	21838002	21838002	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368718537	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	54	97	0	ENST00000380172.4:c.443C>T	p.Thr148Met	p.T148M	ENST00000380172	NM_002451.3	148	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS6509.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAACGAGAG	NONE	byFrequency|byCluster	.	HAMAP:MF_01963,hmmpanther:PTHR11904:SF1,hmmpanther:PTHR11904,Gene3D:3.40.50.1580,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01694,Superfamily_domains:SSF53167	.	.	ENSP00000369519	.	5/8	.	.	.	.	.	.	.	.	rs368718537	5/8	PASS	ENST00000380172	Transcript	.	.	ENSG00000099810	7413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.03)	.	MTAP_HUMAN	MTAP	HGNC	.	.	UPI0000110BBE	SNV	MTAP,missense_variant,p.Thr148Met,ENST00000580900,;MTAP,missense_variant,p.Thr148Met,ENST00000380172,;MTAP,missense_variant,p.Thr165Met,ENST00000460874,;MTAP,downstream_gene_variant,,ENST00000427788,;MTAP,missense_variant,p.Thr148Met,ENST00000580718,;MTAP,3_prime_UTR_variant,,ENST00000419385,;RP11-145E5.5,intron_variant,,ENST00000404796,;	649	97	134	SUCCESS
PHF2	5253	.	GRCh37	9	96435949	96435949	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	78	174	0	ENST00000359246.4:c.2431C>T	p.Leu811=	p.L811=	ENST00000359246	NM_005392.3	811	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35069.1	2431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTGCAG	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14	.	.	ENSP00000352185	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,synonymous_variant,p.%3D,ENST00000359246,;PHF2,intron_variant,,ENST00000375376,;	2798	174	223	SUCCESS
IRS4	8471	.	GRCh37	X	107979138	107979138	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	67	0	ENST00000372129.2:c.437G>A	p.Arg146His	p.R146H	ENST00000372129	NM_003604.2	146	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14544.1	437	RADIA|MUTECT|MUSE|VARSCANS	.	TCACGCGCCGC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,PROSITE_profiles:PS50003	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Arg146His,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	514	67	90	SUCCESS
PLXNB3	5365	.	GRCh37	X	153034490	153034490	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	9	127	0	ENST00000361971.5:c.1354G>A	p.Asp452Asn	p.D452N	ENST00000361971	NM_005393.2	452	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55536.1	1423	MUTECT|MUSE	.	TGCTGGACAGC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000442736	.	6/37	.	.	.	.	.	.	.	.	.	6/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.386)	.	deleterious(0.04)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Asp105Asn,ENST00000538776,;PLXNB3,missense_variant,p.Asp475Asn,ENST00000538966,;PLXNB3,missense_variant,p.Asp452Asn,ENST00000361971,;PLXNB3,intron_variant,,ENST00000538543,;PLXNB3,intron_variant,,ENST00000538282,;U52111.14,upstream_gene_variant,,ENST00000416854,;U52111.14,upstream_gene_variant,,ENST00000434284,;	1694	127	170	SUCCESS
PFKFB1	5207	.	GRCh37	X	54978366	54978366	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	61	187	0	ENST00000375006.3:c.818A>C	p.Asp273Ala	p.D273A	ENST00000375006	NM_001271804.1	273	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS14364.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTCACCT	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF53254,Prints_domain:PR00991	.	.	ENSP00000364145	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Asp208Ala,ENST00000545676,;PFKFB1,missense_variant,p.Asp273Ala,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	889	187	218	SUCCESS
NLGN4X	57502	.	GRCh37	X	5821238	5821238	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765308242	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	431	124	403	0	ENST00000275857.6:c.1481C>A	p.Pro494His	p.P494H	ENST00000275857	NM_020742.2	494	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS14126.1	1481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGGGACC	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	5/6	.	.	.	.	.	.	.	.	rs765308242,COSM1468817	5/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Pro494His,ENST00000381092,;NLGN4X,missense_variant,p.Pro494His,ENST00000381095,;NLGN4X,missense_variant,p.Pro514His,ENST00000381093,;NLGN4X,missense_variant,p.Pro494His,ENST00000538097,;NLGN4X,missense_variant,p.Pro494His,ENST00000275857,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000477079,;	2109	403	555	SUCCESS
PAX2	5076	.	GRCh37	10	102509535	102509535	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1022509510	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	9	0	ENST00000428433.1:c.76G>A	p.Val26Met	p.V26M	ENST00000428433	NM_003987.3	26	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS53569.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GGGGGGTGTTT	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Pfam_domain:PF00292,Gene3D:1.10.10.10,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,PROSITE_profiles:PS51057	.	.	ENSP00000396259	.	2/11	.	.	.	.	.	.	.	.	rs75462234	2/11	nonpreferredpair	ENST00000428433	Transcript	1	.	ENSG00000075891	8616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.993)	.	tolerated(0.14)	.	PAX2_HUMAN	PAX2	HGNC	Q5SZP1_HUMAN	.	UPI00001AEA24	SNV	PAX2,missense_variant,p.Val26Met,ENST00000361791,;PAX2,missense_variant,p.Val30Met,ENST00000554172,;PAX2,missense_variant,p.Val26Met,ENST00000355243,;PAX2,missense_variant,p.Val26Met,ENST00000427256,;PAX2,missense_variant,p.Val25Met,ENST00000556085,;PAX2,missense_variant,p.Val26Met,ENST00000428433,;PAX2,missense_variant,p.Val26Met,ENST00000370296,;PAX2,intron_variant,,ENST00000553492,;PAX2,non_coding_transcript_exon_variant,,ENST00000483202,;PAX2,intron_variant,,ENST00000554363,;	626	9	23	SUCCESS
ADAM12	8038	.	GRCh37	10	127798378	127798378	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	80	0	ENST00000368679.4:c.644A>G	p.Tyr215Cys	p.Y215C	ENST00000368679	NM_003474.4	215	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7653.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATACTTA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000357668	.	7/23	.	.	.	.	.	.	.	.	.	7/23	nonpreferredpair	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Tyr215Cys,ENST00000368679,;ADAM12,missense_variant,p.Tyr215Cys,ENST00000368676,;ADAM12,missense_variant,p.Tyr212Cys,ENST00000448723,;ADAM12,upstream_gene_variant,,ENST00000485388,;	954	80	65	SUCCESS
EBF3	253738	.	GRCh37	10	131665456	131665456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	43	88	0	ENST00000355311.5:c.988T>C	p.Tyr330His	p.Y330H	ENST00000355311		330	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31314.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTAGGAGA	NONE	.	.	hmmpanther:PTHR10747,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000357637	.	10/16	.	.	.	.	.	.	.	.	.	10/16	nonpreferredpair	ENST00000368648	Transcript	.	.	ENSG00000108001	19087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.02)	.	COE3_HUMAN	EBF3	HGNC	Q658Y5_HUMAN	.	UPI000002A6FB	SNV	EBF3,missense_variant,p.Tyr330His,ENST00000355311,;EBF3,missense_variant,p.Tyr321His,ENST00000368648,;	1034	89	140	SUCCESS
HSD17B7P2	158160	.	GRCh37	10	38647315	38647315	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs759622212	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	38	103	0	ENST00000494540.1:n.186T>A		p.*62*	ENST00000494540				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATATGAG	NONE	byFrequency	.	.	.	.	.	.	2/8	.	.	.	.	.	.	.	.	rs759622212	2/8	nonpreferredpair	ENST00000494540	Transcript	.	.	ENSG00000099251	28120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSD17B7P2	HGNC	.	.	.	SNV	HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000494540,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000471365,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000374560,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000277668,;HSD17B7P2,non_coding_transcript_exon_variant,,ENST00000356314,;	186	103	116	SUCCESS
KCNMA1	3778	.	GRCh37	10	78761222	78761222	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	35	252	0	ENST00000286628.8:c.2209A>T	p.Arg737Ter	p.R737*	ENST00000286628	NM_001161352.1	737	Aga/Tga	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53545.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTCTCAA	NONE	.	.	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	18/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,stop_gained,p.Arg741Ter,ENST00000406533,;KCNMA1,stop_gained,p.Arg737Ter,ENST00000286628,;KCNMA1,stop_gained,p.Arg672Ter,ENST00000372437,;KCNMA1,stop_gained,p.Arg711Ter,ENST00000457953,;KCNMA1,stop_gained,p.Arg737Ter,ENST00000404771,;KCNMA1,intron_variant,,ENST00000404857,;KCNMA1,intron_variant,,ENST00000372408,;KCNMA1,intron_variant,,ENST00000372403,;KCNMA1,intron_variant,,ENST00000372440,;KCNMA1,intron_variant,,ENST00000604624,;KCNMA1,intron_variant,,ENST00000450795,;KCNMA1,intron_variant,,ENST00000354353,;KCNMA1,intron_variant,,ENST00000372443,;KCNMA1,intron_variant,,ENST00000286627,;KCNMA1,intron_variant,,ENST00000434208,;KCNMA1,intron_variant,,ENST00000372421,;KCNMA1,intron_variant,,ENST00000475352,;	.	252	270	SUCCESS
C11orf70	0	.	GRCh37	11	101952001	101952001	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1565399341	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	23	0	ENST00000434758.2:c.664G>A	p.Val222Ile	p.V222I	ENST00000434758	NM_032930.2	222	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS8313.2	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAGTTTCA	NONE	.	.	hmmpanther:PTHR31078,hmmpanther:PTHR31078:SF1,Pfam_domain:PF14926	.	.	ENSP00000414390	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000434758	Transcript	.	.	ENSG00000137691	28188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	tolerated(0.07)	.	CK070_HUMAN	C11orf70	HGNC	.	.	UPI00001FA24F	SNV	C11orf70,missense_variant,p.Val222Ile,ENST00000526781,;C11orf70,missense_variant,p.Val222Ile,ENST00000434758,;C11orf70,non_coding_transcript_exon_variant,,ENST00000530659,;	692	23	27	SUCCESS
NFRKB	4798	.	GRCh37	11	129762747	129762747	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	22	122	0	ENST00000446488.3:c.-3A>G		p.*1*	ENST00000446488	NM_001143835.1	13		0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8483.1	37	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTTTCTT	NONE	.	.	hmmpanther:PTHR13052	.	.	ENSP00000436926	.	1/25	.	.	.	.	.	.	.	.	.	1/25	nonpreferredpair	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	SNV	NFRKB,missense_variant,p.Thr13Ala,ENST00000524794,;NFRKB,5_prime_UTR_variant,,ENST00000532225,;NFRKB,5_prime_UTR_variant,,ENST00000531318,;NFRKB,5_prime_UTR_variant,,ENST00000526940,;NFRKB,5_prime_UTR_variant,,ENST00000446488,;NFRKB,5_prime_UTR_variant,,ENST00000524746,;NFRKB,5_prime_UTR_variant,,ENST00000304521,;NFRKB,5_prime_UTR_variant,,ENST00000529319,;NFRKB,5_prime_UTR_variant,,ENST00000531755,;NFRKB,5_prime_UTR_variant,,ENST00000526884,;NFRKB,5_prime_UTR_variant,,ENST00000530278,;	158	122	158	SUCCESS
UEVLD	55293	.	GRCh37	11	18579874	18579874	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	54	0	ENST00000396197.3:c.616A>C	p.Ile206Leu	p.I206L	ENST00000396197	NM_001040697.2	206	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS41624.1	616	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAATACCCT	NONE	.	.	hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18,Pfam_domain:PF00056,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00086	.	.	ENSP00000379500	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000396197	Transcript	.	.	ENSG00000151116	30866	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	tolerated(1)	.	UEVLD_HUMAN	UEVLD	HGNC	B4DWH4_HUMAN,B4DIA9_HUMAN	.	UPI00001AF2D2	SNV	UEVLD,missense_variant,p.Ile184Leu,ENST00000379387,;UEVLD,missense_variant,p.Ile106Leu,ENST00000541984,;UEVLD,missense_variant,p.Ile168Leu,ENST00000535484,;UEVLD,missense_variant,p.Ile206Leu,ENST00000396197,;UEVLD,missense_variant,p.Ile184Leu,ENST00000320750,;UEVLD,missense_variant,p.Ile206Leu,ENST00000543987,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,3_prime_UTR_variant,,ENST00000396196,;	645	54	61	SUCCESS
CAPRIN1	4076	.	GRCh37	11	34118806	34118806	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	7	128	0	ENST00000341394.4:c.1964A>C	p.Gln655Pro	p.Q655P	ENST00000341394	NM_005898.4	655	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS31453.1	1964	MUTECT|MUSE	.	GTCTCAGTTCA	NONE	.	.	hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3,Pfam_domain:PF12287	.	.	ENSP00000340329	.	17/19	.	.	.	.	.	.	.	.	.	17/19	nonpreferredpair	ENST00000341394	Transcript	.	.	ENSG00000135387	6743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.333)	.	tolerated(0.05)	.	CAPR1_HUMAN	CAPRIN1	HGNC	G3V153_HUMAN,E9PLA9_HUMAN	.	UPI0000251DB5	SNV	CAPRIN1,missense_variant,p.Gln655Pro,ENST00000532820,;CAPRIN1,missense_variant,p.Gln655Pro,ENST00000389645,;CAPRIN1,missense_variant,p.Gln655Pro,ENST00000530820,;CAPRIN1,missense_variant,p.Gln655Pro,ENST00000341394,;CAPRIN1,missense_variant,p.Gln574Pro,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,downstream_gene_variant,,ENST00000528948,;	2153	128	169	SUCCESS
MS4A10	341116	.	GRCh37	11	60561505	60561505	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200380093	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	70	116	0	ENST00000308287.1:c.421G>A	p.Val141Ile	p.V141I	ENST00000308287	NM_206893.3	141	Gtc/Atc	0	A:0	.	.	.	.	A	V/I	protein_coding	YES	CCDS7992.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGTCATC	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF5,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	A:0.0001	ENSP00000311862	.	5/8	.	.	.	.	.	.	.	.	rs200380093,COSM193191	5/8	nonpreferredpair	ENST00000308287	Transcript	.	.	ENSG00000172689	13368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.665)	.	tolerated(0.14)	0,1	M4A10_HUMAN	MS4A10	HGNC	.	.	UPI000023754A	SNV	MS4A10,missense_variant,p.Val141Ile,ENST00000308287,;	517	116	155	SUCCESS
HPX	3263	.	GRCh37	11	6453126	6453127	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	29	0	ENST00000265983.3:c.956_957del	p.Tyr319SerfsTer82	p.Y319Sfs*82	ENST00000265983	NM_000613.2	319	tAT/t	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS7763.1	956-957	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCAGATAGAGT	NONE	.	.	Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,SMART_domains:SM00120,Pfam_domain:PF00045,Gene3D:2.110.10.10,PROSITE_profiles:PS51642	.	.	ENSP00000265983	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000265983	Transcript	.	.	ENSG00000110169	5171	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEMO_HUMAN	HPX	HGNC	.	.	UPI000012C5AF	deletion	HPX,frameshift_variant,p.Tyr319SerfsTer82,ENST00000265983,;HPX,non_coding_transcript_exon_variant,,ENST00000529037,;HPX,downstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000533561,;HPX,non_coding_transcript_exon_variant,,ENST00000527556,;	1057-1058	29	54	SUCCESS
LTBP3	4054	.	GRCh37	11	65318651	65318651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	29	0	ENST00000301873.5:c.1666C>T	p.Pro556Ser	p.P556S	ENST00000301873	NM_001130144.2	556	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS44647.1	1666	MUTECT|VARSCANS	.	GTCCGGCAGGA	NONE	.	.	hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35	.	.	ENSP00000301873	.	11/28	.	.	.	.	.	.	.	.	.	11/28	nonpreferredpair	ENST00000301873	Transcript	.	.	ENSG00000168056	6716	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.219)	.	deleterious(0.01)	.	LTBP3_HUMAN	LTBP3	HGNC	Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN	.	UPI00003667EB	SNV	LTBP3,missense_variant,p.Pro207Ser,ENST00000526927,;LTBP3,missense_variant,p.Pro556Ser,ENST00000301873,;LTBP3,missense_variant,p.Pro467Ser,ENST00000530866,;LTBP3,missense_variant,p.Pro556Ser,ENST00000322147,;LTBP3,missense_variant,p.Pro182Ser,ENST00000536982,;LTBP3,upstream_gene_variant,,ENST00000527339,;LTBP3,downstream_gene_variant,,ENST00000530426,;LTBP3,upstream_gene_variant,,ENST00000529189,;LTBP3,upstream_gene_variant,,ENST00000532932,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000529764,;LTBP3,non_coding_transcript_exon_variant,,ENST00000528966,;LTBP3,downstream_gene_variant,,ENST00000524798,;LTBP3,downstream_gene_variant,,ENST00000526825,;LTBP3,downstream_gene_variant,,ENST00000527792,;	1935	29	34	SUCCESS
SHANK2	22941	.	GRCh37	11	70348970	70348970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	38	73	0	ENST00000423696.2:c.991A>T	p.Asn331Tyr	p.N331Y	ENST00000423696		331	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	.	2131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATTCCCTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000345193	.	24/33	.	.	.	.	.	.	.	.	.	24/33	nonpreferredpair	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Asn121Tyr,ENST00000409530,;SHANK2,missense_variant,p.Asn121Tyr,ENST00000409161,;SHANK2,missense_variant,p.Asn121Tyr,ENST00000412252,;SHANK2,missense_variant,p.Asn331Tyr,ENST00000423696,;SHANK2,missense_variant,p.Asn120Tyr,ENST00000426687,;SHANK2,missense_variant,p.Asn122Tyr,ENST00000357171,;SHANK2,missense_variant,p.Asn341Tyr,ENST00000294018,;SHANK2,missense_variant,p.Asn122Tyr,ENST00000449116,;SHANK2,missense_variant,p.Asn711Tyr,ENST00000338508,;SHANK2,missense_variant,p.Asn122Tyr,ENST00000449833,;SHANK2,upstream_gene_variant,,ENST00000424924,;	2131	73	132	SUCCESS
CNTN5	53942	.	GRCh37	11	99827704	99827704	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	75	190	0	ENST00000524871.1:c.840C>T	p.Val280=	p.V280=	ENST00000524871	NM_014361.3	280	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS53696.1	840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTCCTTAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	8/25	.	.	.	.	.	.	.	.	.	8/25	nonpreferredpair	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,synonymous_variant,p.%3D,ENST00000279463,;CNTN5,synonymous_variant,p.%3D,ENST00000524871,;CNTN5,synonymous_variant,p.%3D,ENST00000528682,;CNTN5,synonymous_variant,p.%3D,ENST00000527185,;CNTN5,synonymous_variant,p.%3D,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000525236,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	1130	190	197	SUCCESS
IQSEC3	440073	.	GRCh37	12	271125	271125	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	98	240	0	ENST00000538872.1:c.2477T>A	p.Leu826Gln	p.L826Q	ENST00000538872		826	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS53728.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGGTGG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000437554	.	8/14	.	.	.	.	.	.	.	.	.	8/14	nonpreferredpair	ENST00000538872	Transcript	.	.	ENSG00000120645	29193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IQEC3_HUMAN	IQSEC3	HGNC	.	.	UPI0000DBEEF0	SNV	IQSEC3,missense_variant,p.Leu826Gln,ENST00000538872,;IQSEC3,missense_variant,p.Leu523Gln,ENST00000382841,;IQSEC3,missense_variant,p.Leu826Gln,ENST00000326261,;RP11-598F7.6,downstream_gene_variant,,ENST00000537295,;RP11-598F7.5,downstream_gene_variant,,ENST00000540136,;	2595	241	197	SUCCESS
KRT1	3848	.	GRCh37	12	53074087	53074087	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748686918	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	21	138	0	ENST00000252244.3:c.46G>T	p.Gly16Cys	p.G16C	ENST00000252244	NM_006121.3	16	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS8836.1	46	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCCCCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000252244	.	1/9	.	.	.	.	.	.	.	.	rs748686918	1/9	nonpreferredpair	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,missense_variant,p.Gly16Cys,ENST00000252244,;KRT1,upstream_gene_variant,,ENST00000548765,;	105	138	175	SUCCESS
OR6C75	390323	.	GRCh37	12	55759405	55759405	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	97	0	ENST00000343399.3:c.511G>T	p.Val171Leu	p.V171L	ENST00000343399	NM_001005497.1	171	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS31820.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGTAATT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,PROSITE_profiles:PS50262	.	.	ENSP00000368987	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000343399	Transcript	.	.	ENSG00000187857	31304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious_low_confidence(0.02)	.	O6C75_HUMAN	OR6C75	HGNC	.	.	UPI000023786C	SNV	OR6C75,missense_variant,p.Val171Leu,ENST00000343399,;	511	97	112	SUCCESS
SUOX	6821	.	GRCh37	12	56398608	56398608	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1325574553	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	20	156	0	ENST00000266971.3:c.1435G>A	p.Glu479Lys	p.E479K	ENST00000266971	NM_001032386.1	479	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8901.2	1435	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGAACAG	NONE	.	.	hmmpanther:PTHR19372:SF2,hmmpanther:PTHR19372,Gene3D:2a9dA02,Pfam_domain:PF03404,Superfamily_domains:SSF81296	.	.	ENSP00000377668	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000394109	Transcript	.	.	ENSG00000139531	11460	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.39)	.	SUOX_HUMAN	SUOX	HGNC	F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN	.	UPI00001FC4A1	SNV	SUOX,missense_variant,p.Glu479Lys,ENST00000394115,;SUOX,missense_variant,p.Glu479Lys,ENST00000356124,;SUOX,missense_variant,p.Glu479Lys,ENST00000266971,;SUOX,missense_variant,p.Glu479Lys,ENST00000548274,;SUOX,missense_variant,p.Glu479Lys,ENST00000394109,;SUOX,downstream_gene_variant,,ENST00000546833,;IKZF4,upstream_gene_variant,,ENST00000262032,;SUOX,downstream_gene_variant,,ENST00000552258,;SUOX,downstream_gene_variant,,ENST00000551841,;SUOX,downstream_gene_variant,,ENST00000547586,;SUOX,downstream_gene_variant,,ENST00000550478,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,downstream_gene_variant,,ENST00000551698,;SUOX,downstream_gene_variant,,ENST00000552363,;SUOX,downstream_gene_variant,,ENST00000550340,;IKZF4,upstream_gene_variant,,ENST00000548601,;SUOX,missense_variant,p.Glu479Lys,ENST00000550065,;SUOX,downstream_gene_variant,,ENST00000546712,;SUOX,downstream_gene_variant,,ENST00000552813,;	2159	156	191	SUCCESS
POC1B	282809	.	GRCh37	12	89891089	89891089	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs111514387	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	19	75	0	ENST00000313546.3:c.131T>C	p.Leu44Pro	p.L44P	ENST00000313546	NM_172240.2	44	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31869.1	131	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATAGCATG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR22847:SF318,hmmpanther:PTHR22847,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000323302	.	3/12	.	.	.	.	.	.	.	.	rs111514387	3/12	nonpreferredpair	ENST00000313546	Transcript	.	.	ENSG00000139323	30836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	POC1B_HUMAN	POC1B	HGNC	Q8IU52_HUMAN,F8VX21_HUMAN,A0MNP0_HUMAN	.	UPI000006E6B9	SNV	POC1B,missense_variant,p.Leu2Pro,ENST00000549035,;POC1B,missense_variant,p.Leu44Pro,ENST00000313546,;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000549504,;POC1B,upstream_gene_variant,,ENST00000378528,;POC1B,missense_variant,p.Leu44Pro,ENST00000546830,;POC1B,non_coding_transcript_exon_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000547274,;POC1B,intron_variant,,ENST00000547496,;CENPCP1,upstream_gene_variant,,ENST00000533085,;	260	75	142	SUCCESS
RB1	5925	.	GRCh37	13	48941636	48941636	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	11	0	ENST00000267163.4:c.946A>T	p.Asn316Tyr	p.N316Y	ENST00000267163	NM_000321.2	316	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS31973.1	946	RADIA|MUTECT|MUSE	.	TTGAAAATCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13742	.	.	ENSP00000267163	.	10/27	.	.	.	.	.	.	.	.	.	10/27	nonpreferredpair	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.189)	.	deleterious(0.04)	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,missense_variant,p.Asn316Tyr,ENST00000267163,;RB1,downstream_gene_variant,,ENST00000467505,;	1084	11	11	SUCCESS
RB1	5925	.	GRCh37	13	48951170	48951170	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	.	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	48	0	ENST00000267163.4:c.1332G>A		p.X444_splice	ENST00000267163	NM_000321.2	444	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS31973.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGGTAAC	NONE	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	13/27	.	.	.	.	.	.	.	.	CS004738,CS081960,COSM932	13/27	nonpreferredpair	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	0,0,1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,synonymous_variant,p.%3D,ENST00000267163,;	1470	48	38	SUCCESS
BORA	79866	.	GRCh37	13	73312100	73312100	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	93	0	ENST00000390667.5:c.307T>C	p.Phe103Leu	p.F103L	ENST00000390667	NM_024808.2	103	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS9446.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGTTTTTC	NONE	.	.	hmmpanther:PTHR14728:SF1,hmmpanther:PTHR14728,Pfam_domain:PF15280,Prints_domain:PR02038	.	.	ENSP00000375082	.	5/12	.	.	.	.	.	.	.	.	.	5/12	nonpreferredpair	ENST00000390667	Transcript	.	.	ENSG00000136122	24724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BORA_HUMAN	BORA	HGNC	B5LMG6_HUMAN	.	UPI0000224003	SNV	BORA,missense_variant,p.Phe103Leu,ENST00000390667,;BORA,missense_variant,p.Phe33Leu,ENST00000377815,;BORA,missense_variant,p.Phe81Leu,ENST00000377814,;BORA,splice_region_variant,,ENST00000471712,;BORA,splice_region_variant,,ENST00000464754,;	404	93	66	SUCCESS
HSP90AA1	3320	.	GRCh37	14	102551156	102551178	+	frameshift_variant	Frame_Shift_Del	DEL	CTTAATCTTCTTCTTCTTCTTCT	CTTAATCTTCTTCTTCTTCTTCT	-	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	CTTAATCTTCTTCTTCTTCTTCT	CTTAATCTTCTTCTTCTTCTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	105	0	ENST00000216281.8:c.821_843del	p.Lys274ArgfsTer25	p.K274Rfs*25	ENST00000216281	NM_005348.3	274	aAGAAGAAGAAGAAGAAGATTAAG/a	0	.	.	.	.	.	-	KKKKKKIK/X	protein_coding	YES	CCDS32160.1	1187-1209	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTCCTTAATCTTCTTCTTCTTCTTCTTGTCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583	.	.	ENSP00000335153	.	6/12	.	.	.	.	.	.	.	.	.	6/12	nonpreferredpair	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	deletion	HSP90AA1,frameshift_variant,p.Lys95ArgfsTer25,ENST00000441629,;HSP90AA1,frameshift_variant,p.Lys396ArgfsTer25,ENST00000334701,;HSP90AA1,frameshift_variant,p.Lys274ArgfsTer25,ENST00000216281,;HSP90AA1,downstream_gene_variant,,ENST00000553585,;HSP90AA1,3_prime_UTR_variant,,ENST00000554401,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;HSP90AA1,upstream_gene_variant,,ENST00000560130,;HSP90AA1,upstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;	1469-1491	105	91	SUCCESS
KIF26A	26153	.	GRCh37	14	104642627	104642627	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	14	0	ENST00000423312.2:c.3502A>C	p.Ser1168Arg	p.S1168R	ENST00000423312	NM_015656.1	1168	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS45171.1	3502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACAGTCCT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0.04)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Ser1029Arg,ENST00000315264,;KIF26A,missense_variant,p.Ser1168Arg,ENST00000423312,;	3502	14	35	SUCCESS
KIF26A	26153	.	GRCh37	14	104642628	104642628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	14	0	ENST00000423312.2:c.3503G>T	p.Ser1168Ile	p.S1168I	ENST00000423312	NM_015656.1	1168	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS45171.1	3503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAGTCCTG	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	deleterious(0.02)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Ser1029Ile,ENST00000315264,;KIF26A,missense_variant,p.Ser1168Ile,ENST00000423312,;	3503	14	34	SUCCESS
KLHL33	123103	.	GRCh37	14	20897132	20897132	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372057023	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	52	87	0	ENST00000344581.4:c.1478G>T	p.Arg493Leu	p.R493L	ENST00000344581	NM_001109997.2	493	cGa/cTa	0	T:0.0007	T:0.0008	.	T:0	.	A	R/L	protein_coding	YES	CCDS53882.1	1478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGGCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	T:0	T:0	ENSP00000341549	T:0	4/4	.	.	.	.	.	.	.	.	rs372057023	4/4	nonpreferredpair	ENST00000344581	Transcript	.	T:0.0002	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	T:0	deleterious(0.04)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Arg493Leu,ENST00000344581,;	1701	87	141	SUCCESS
SNW1	22938	.	GRCh37	14	78202323	78202323	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	29	0	ENST00000261531.7:c.665C>G	p.Pro222Arg	p.P222R	ENST00000261531	NM_012245.2	222	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS9867.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGGTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12096,Pfam_domain:PF02731	.	.	ENSP00000261531	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,missense_variant,p.Pro60Arg,ENST00000554775,;SNW1,missense_variant,p.Pro222Arg,ENST00000555761,;SNW1,missense_variant,p.Pro222Arg,ENST00000261531,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557431,;SNW1,intron_variant,,ENST00000554324,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SNW1,non_coding_transcript_exon_variant,,ENST00000553565,;SLIRP,intron_variant,,ENST00000556310,;SNW1,downstream_gene_variant,,ENST00000557663,;	728	29	27	SUCCESS
NRXN3	9369	.	GRCh37	14	79434590	79434590	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	44	156	0	ENST00000554719.1:c.1924T>A	p.Phe642Ile	p.F642I	ENST00000554719	NM_004796.5	642	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS9870.1	1924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTTTCAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	11/17	.	.	.	.	.	.	.	.	.	11/17	nonpreferredpair	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Phe642Ile,ENST00000554719,;NRXN3,missense_variant,p.Phe642Ile,ENST00000335750,;NRXN3,missense_variant,p.Phe1004Ile,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	2415	156	180	SUCCESS
KCNK13	56659	.	GRCh37	14	90651290	90651290	+	synonymous_variant	Silent	SNP	G	G	T	rs749642093	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	38	0	ENST00000282146.4:c.1170G>T	p.Gly390=	p.G390=	ENST00000282146	NM_022054.3	390	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9889.1	1170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGGTGGG	BUFFER|p.F387L|c.1161C>A|3	byFrequency	.	hmmpanther:PTHR11003:SF57,hmmpanther:PTHR11003	.	.	ENSP00000282146	.	2/2	.	.	.	.	.	.	.	.	rs749642093	2/2	nonpreferredpair	ENST00000282146	Transcript	.	.	ENSG00000152315	6275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKD_HUMAN	KCNK13	HGNC	B5TJL8_HUMAN	.	UPI0000127A55	SNV	KCNK13,synonymous_variant,p.%3D,ENST00000282146,;	1611	38	58	SUCCESS
CCDC88C	440193	.	GRCh37	14	91780183	91780183	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	40	0	ENST00000389857.6:c.1977G>A	p.Glu659=	p.E659=	ENST00000389857	NM_001080414.3	659	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS45151.1	1977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCTCGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31	.	.	ENSP00000374507	.	15/30	.	.	.	.	.	.	.	.	.	15/30	nonpreferredpair	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,synonymous_variant,p.%3D,ENST00000389857,;CCDC88C,downstream_gene_variant,,ENST00000557507,;	2064	40	46	SUCCESS
ADAMTS17	170691	.	GRCh37	15	100594228	100594228	+	synonymous_variant	Silent	SNP	G	G	A	rs368641530	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	132	121	0	ENST00000268070.4:c.2169C>T	p.Asn723=	p.N723=	ENST00000268070	NM_139057.2	723	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS10383.1	2169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGTTGAT	NONE	byCluster	.	Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF31	.	A:0.0001	ENSP00000268070	.	16/22	.	.	.	.	.	.	.	.	rs368641530	16/22	nonpreferredpair	ENST00000268070	Transcript	1	.	ENSG00000140470	17109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS17_HUMAN	ADAMTS17	HGNC	.	.	UPI00001AE929	SNV	ADAMTS17,synonymous_variant,p.%3D,ENST00000268070,;ADAMTS17,synonymous_variant,p.%3D,ENST00000568565,;	2275	121	280	SUCCESS
NBEAP1	606	.	GRCh37	15	20876516	20876516	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	13	136	0	ENST00000556948.1:n.85G>T		p.*29*	ENST00000556948				0	.	.	.	.	.	A	.	retained_intron	YES	.	.	MUTECT|MUSE	.	AGGTACTCCAT	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000556948	Transcript	.	.	ENSG00000258590	1007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBEAP1	HGNC	.	.	.	SNV	NBEAP1,non_coding_transcript_exon_variant,,ENST00000556948,;NBEAP1,non_coding_transcript_exon_variant,,ENST00000554452,;	85	136	187	SUCCESS
FLYWCH2	114984	.	GRCh37	16	2946481	2946481	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	41	0	ENST00000293981.6:c.31G>A	p.Gly11Ser	p.G11S	ENST00000293981	NM_001142499.1	11	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS10482.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGTGAG	NONE	.	.	hmmpanther:PTHR31665,Pfam_domain:PF15423	.	.	ENSP00000380159	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000396958	Transcript	.	.	ENSG00000162076	25178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.09)	.	FWCH2_HUMAN	FLYWCH2	HGNC	I3L4I0_HUMAN	.	UPI000006F797	SNV	FLYWCH2,missense_variant,p.Gly11Ser,ENST00000573965,;FLYWCH2,missense_variant,p.Gly11Ser,ENST00000572006,;FLYWCH2,missense_variant,p.Gly11Ser,ENST00000293981,;FLYWCH2,missense_variant,p.Gly11Ser,ENST00000396958,;FLYWCH2,upstream_gene_variant,,ENST00000572786,;	411	41	52	SUCCESS
CDH3	1001	.	GRCh37	16	68721498	68721498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	106	218	0	ENST00000264012.4:c.1654C>A	p.Gln552Lys	p.Q552K	ENST00000264012	NM_001793.4	552	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS10868.1	1654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTCAGATC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF267,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000264012	.	12/16	.	.	.	.	.	.	.	.	.	12/16	nonpreferredpair	ENST00000264012	Transcript	.	.	ENSG00000062038	1762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.4)	.	CADH3_HUMAN	CDH3	HGNC	J3KTE9_HUMAN	.	UPI0000161BFF	SNV	CDH3,missense_variant,p.Gln552Lys,ENST00000429102,;CDH3,missense_variant,p.Gln497Lys,ENST00000581171,;CDH3,missense_variant,p.Gln552Lys,ENST00000264012,;CDH3,upstream_gene_variant,,ENST00000568292,;CDH3,3_prime_UTR_variant,,ENST00000542274,;CDH3,upstream_gene_variant,,ENST00000567674,;HSPE1P5,downstream_gene_variant,,ENST00000561489,;	2198	218	205	SUCCESS
NF1	4763	.	GRCh37	17	29553694	29553694	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	74	0	ENST00000358273.4:c.2243T>G	p.Met748Arg	p.M748R	ENST00000358273	NM_001042492.2	748	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS42292.1	2243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGATGTCAA	NONE	.	.	hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	18/58	.	.	.	.	.	.	.	.	.	18/58	nonpreferredpair	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.14)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Met414Arg,ENST00000456735,;NF1,missense_variant,p.Met748Arg,ENST00000358273,;NF1,missense_variant,p.Met748Arg,ENST00000356175,;NF1,downstream_gene_variant,,ENST00000431387,;NF1,missense_variant,p.Met782Arg,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	2626	74	85	SUCCESS
ARL5C	390790	.	GRCh37	17	37319108	37319108	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	9	85	0	ENST00000269586.7:c.111G>C	p.Leu37Phe	p.L37F	ENST00000269586	NM_001143968.1	37	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS45664.1	111	MUTECT|MUSE	.	TTGGTCAAGCT	NONE	.	.	Prints_domain:PR00328,Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Gene3D:3.40.50.300,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF148,PROSITE_profiles:PS51417	.	.	ENSP00000387615	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000444555	Transcript	.	.	ENSG00000141748	31111	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.44)	.	ARL5C_HUMAN	ARL5C	HGNC	.	.	UPI00001600CC	SNV	ARL5C,missense_variant,p.Leu37Phe,ENST00000444555,;ARL5C,missense_variant,p.Leu37Phe,ENST00000269586,;ARL5C,downstream_gene_variant,,ENST00000583123,;ARL5C,upstream_gene_variant,,ENST00000578912,;ARL5C,downstream_gene_variant,,ENST00000581554,;ARL5C,downstream_gene_variant,,ENST00000581255,;	451	85	135	SUCCESS
FBXL20	84961	.	GRCh37	17	37421707	37421707	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	64	0	ENST00000264658.6:c.934-1G>T		p.X312_splice	ENST00000264658	NM_032875.2	312		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32640.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCTGAAA	NONE	.	.	.	.	.	ENSP00000264658	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000264658	Transcript	.	.	ENSG00000108306	24679	.	.	HIGH	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL20_HUMAN	FBXL20	HGNC	.	.	UPI000000D932	SNV	FBXL20,splice_acceptor_variant,,ENST00000394294,;FBXL20,splice_acceptor_variant,,ENST00000581781,;FBXL20,splice_acceptor_variant,,ENST00000264658,;FBXL20,splice_acceptor_variant,,ENST00000583610,;FBXL20,splice_acceptor_variant,,ENST00000577399,;	.	64	74	SUCCESS
FZD2	2535	.	GRCh37	17	42635258	42635258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	19	191	0	ENST00000315323.3:c.202G>T	p.Asp68Tyr	p.D68Y	ENST00000315323	NM_001466.3	68	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS11484.1	202	MUTECT|MUSE	.	AGGAGGACGCA	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF34,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000323901	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000315323	Transcript	.	.	ENSG00000180340	4040	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	FZD2_HUMAN	FZD2	HGNC	Q86UZ8_HUMAN	.	UPI0000050444	SNV	FZD2,missense_variant,p.Asp68Tyr,ENST00000315323,;	334	191	310	SUCCESS
ANKFN1	162282	.	GRCh37	17	54558126	54558126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	90	0	ENST00000318698.2:c.2047C>T	p.Leu683Phe	p.L683F	ENST00000318698	NM_153228.2	683	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS32686.1	2047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGCTCCAG	BUFFER|p.Y681Y|c.2043C>T|3	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	16/17	.	.	.	.	.	.	.	.	.	16/17	nonpreferredpair	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,missense_variant,p.Leu683Phe,ENST00000318698,;ANKFN1,missense_variant,p.Leu683Phe,ENST00000566473,;	2082	90	121	SUCCESS
CLEC10A	10462	.	GRCh37	17	6979004	6979004	+	intron_variant	Intron	DEL	C	C	-	rs149367958	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	48	0	ENST00000254868.4:c.675+46del		p.*225*	ENST00000254868	NM_182906.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11087.1	.	INDELOCATOR*|VARSCANI*|PINDEL	not_provided	CCATTTCCCTAA	NONE	.	.	.	.	.	ENSP00000254868	.	.	.	.	.	.	.	.	.	.	rs149367958	.	nonpreferredpair	ENST00000254868	Transcript	.	.	ENSG00000132514	16916	.	.	MODIFIER	7/8	PRIMARY	.	.	.	.	3	1	.	21499247	.	.	.	1	CLC10_HUMAN	CLEC10A	HGNC	.	.	UPI0000074738	deletion	CLEC10A,frameshift_variant,p.Glu214LysfsTer29,ENST00000576617,;CLEC10A,intron_variant,,ENST00000254868,;CLEC10A,intron_variant,,ENST00000571664,;CLEC10A,intron_variant,,ENST00000576549,;CLEC10A,intron_variant,,ENST00000416562,;CLEC10A,downstream_gene_variant,,ENST00000571624,;	.	48	39	SUCCESS
APCDD1	147495	.	GRCh37	18	10468488	10468488	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	84	0	ENST00000355285.5:c.81C>T	p.Leu27=	p.L27=	ENST00000355285	NM_153000.4	27	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11849.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCCTTCA	NONE	.	.	hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2	.	.	ENSP00000347433	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000355285	Transcript	.	.	ENSG00000154856	15718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,synonymous_variant,p.%3D,ENST00000578882,;APCDD1,synonymous_variant,p.%3D,ENST00000355285,;APCDD1,upstream_gene_variant,,ENST00000584596,;APCDD1,intron_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;	435	84	132	SUCCESS
EMR2	0	.	GRCh37	19	14877174	14877174	+	synonymous_variant	Silent	SNP	G	G	T	rs748645336	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	171	0	ENST00000315576.3:c.507C>A	p.Ser169=	p.S169=	ENST00000315576	NM_013447.3	169	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32935.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCGGAGGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR12011:SF179,hmmpanther:PTHR12011,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000319883	.	7/21	.	.	.	.	.	.	.	.	rs748645336,COSM4074878	7/21	nonpreferredpair	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,synonymous_variant,p.%3D,ENST00000392965,;EMR2,synonymous_variant,p.%3D,ENST00000392967,;EMR2,synonymous_variant,p.%3D,ENST00000596991,;EMR2,synonymous_variant,p.%3D,ENST00000601345,;EMR2,synonymous_variant,p.%3D,ENST00000315576,;EMR2,intron_variant,,ENST00000392964,;EMR2,intron_variant,,ENST00000594294,;EMR2,intron_variant,,ENST00000595839,;EMR2,intron_variant,,ENST00000353005,;EMR2,intron_variant,,ENST00000594076,;EMR2,intron_variant,,ENST00000346057,;EMR2,intron_variant,,ENST00000353876,;EMR2,downstream_gene_variant,,ENST00000601619,;EMR2,downstream_gene_variant,,ENST00000599423,;EMR2,non_coding_transcript_exon_variant,,ENST00000360222,;EMR2,intron_variant,,ENST00000392962,;EMR2,intron_variant,,ENST00000595208,;	959	171	150	SUCCESS
C19orf35	0	.	GRCh37	19	2280897	2280897	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs980873573	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	23	0	ENST00000342063.3:c.34G>A	p.Glu12Lys	p.E12K	ENST00000342063	NM_198532.2	12	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12087.1	34	RADIA|MUSE	.	GGGCTCGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6	.	.	ENSP00000345102	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000342063	Transcript	.	.	ENSG00000188305	24793	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.113)	.	tolerated(0.82)	.	CS035_HUMAN	C19orf35	HGNC	.	.	UPI00001C0E91	SNV	C19orf35,missense_variant,p.Glu12Lys,ENST00000342063,;C19orf35,missense_variant,p.Glu12Lys,ENST00000590316,;	128	23	39	SUCCESS
THOP1	7064	.	GRCh37	19	2794767	2794767	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	52	0	ENST00000307741.6:c.235A>C	p.Arg79=	p.R79=	ENST00000307741	NM_003249.3	79	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS12095.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGAGGAAT	NONE	.	.	hmmpanther:PTHR11804:SF34,hmmpanther:PTHR11804,Gene3D:2o36A01,Superfamily_domains:SSF55486	.	.	ENSP00000304467	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	SNV	THOP1,synonymous_variant,p.%3D,ENST00000585338,;THOP1,synonymous_variant,p.%3D,ENST00000307741,;THOP1,upstream_gene_variant,,ENST00000586677,;THOP1,non_coding_transcript_exon_variant,,ENST00000585673,;THOP1,intron_variant,,ENST00000586780,;	438	52	69	SUCCESS
RYR1	6261	.	GRCh37	19	39018424	39018424	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	28	75	0	ENST00000359596.3:c.10824G>T	p.Gln3608His	p.Q3608H	ENST00000359596		3608	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS33011.1	10824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGTGGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	73/106	.	.	.	.	.	.	.	.	.	73/106	nonpreferredpair	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gln544His,ENST00000599547,;RYR1,missense_variant,p.Gln3603His,ENST00000355481,;RYR1,missense_variant,p.Gln3608His,ENST00000359596,;RYR1,missense_variant,p.Gln3608His,ENST00000360985,;RYR1,upstream_gene_variant,,ENST00000601514,;AC067969.1,intron_variant,,ENST00000597015,;RYR1,splice_region_variant,,ENST00000594335,;RYR1,downstream_gene_variant,,ENST00000600337,;	10824	75	112	SUCCESS
BSPH1	100131137	.	GRCh37	19	48495386	48495386	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs986331673	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	70	0	ENST00000344839.3:c.-48T>C		p.*16*	ENST00000344839	NM_001128326.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46135.1	.	RADIA|MUTECT|MUSE	.	TTGTCAGCCAG	NONE	.	.	.	.	.	ENSP00000341762	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000344839	Transcript	.	.	ENSG00000188334	33906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BSPH1_HUMAN	BSPH1	HGNC	.	.	UPI0000E2CEEE	SNV	BSPH1,5_prime_UTR_variant,,ENST00000344839,;ELSPBP1,upstream_gene_variant,,ENST00000597519,;ELSPBP1,upstream_gene_variant,,ENST00000339841,;ELSPBP1,upstream_gene_variant,,ENST00000596043,;	42	70	70	SUCCESS
SYT5	6861	.	GRCh37	19	55687105	55687105	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	60	244	0	ENST00000354308.3:c.512C>G	p.Pro171Arg	p.P171R	ENST00000354308	NM_003180.2	171	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12919.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAGGGTTC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00360	.	.	ENSP00000346265	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000354308	Transcript	.	.	ENSG00000129990	11513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYT5_HUMAN	SYT5	HGNC	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN	.	UPI000013C56F	SNV	SYT5,missense_variant,p.Pro171Arg,ENST00000537500,;SYT5,missense_variant,p.Pro171Arg,ENST00000354308,;SYT5,missense_variant,p.Pro168Arg,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000590859,;SYT5,downstream_gene_variant,,ENST00000589172,;SYT5,downstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,3_prime_UTR_variant,,ENST00000585461,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,upstream_gene_variant,,ENST00000592956,;	882	244	322	SUCCESS
NLRP9	338321	.	GRCh37	19	56244429	56244429	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	42	0	ENST00000332836.2:c.768C>G	p.Ile256Met	p.I256M	ENST00000332836	NM_176820.2	256	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS12934.1	768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGATAAT	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Pfam_domain:PF05729,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000331857	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000332836	Transcript	.	.	ENSG00000185792	22941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	NALP9_HUMAN	NLRP9	HGNC	.	.	UPI00001B6B39	SNV	NLRP9,missense_variant,p.Ile256Met,ENST00000332836,;NLRP9,missense_variant,p.Ile256Met,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	796	42	46	SUCCESS
CD101	9398	.	GRCh37	1	117554255	117554255	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	26	133	0	ENST00000256652.4:c.508G>C	p.Ala170Pro	p.A170P	ENST00000256652	NM_004258.5	170	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS891.1	508	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGCATCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF20,hmmpanther:PTHR12207,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256652	.	3/10	.	.	.	.	.	.	.	.	.	3/10	nonpreferredpair	ENST00000256652	Transcript	.	.	ENSG00000134256	5949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.932)	.	deleterious(0.01)	.	IGSF2_HUMAN	CD101	HGNC	.	.	UPI000013CF1F	SNV	CD101,missense_variant,p.Ala170Pro,ENST00000369470,;CD101,missense_variant,p.Ala170Pro,ENST00000256652,;	566	133	205	SUCCESS
PYHIN1	149628	.	GRCh37	1	158906744	158906744	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	24	112	0	ENST00000368140.1:c.44A>G	p.Glu15Gly	p.E15G	ENST00000368140	NM_152501.4	15	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1178.1	44	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGAGGTCA	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200,Pfam_domain:PF02758	.	.	ENSP00000357122	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,missense_variant,p.Glu15Gly,ENST00000368135,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000392254,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000368140,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000458222,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000392252,;PYHIN1,missense_variant,p.Glu15Gly,ENST00000368138,;	289	112	182	SUCCESS
SPEN	23013	.	GRCh37	1	16261862	16261862	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	583	146	626	0	ENST00000375759.3:c.9127A>G	p.Ser3043Gly	p.S3043G	ENST00000375759	NM_015001.2	3043	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS164.1	9127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCAGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	.	11/15	nonpreferredpair	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Ser3043Gly,ENST00000375759,;SPEN,upstream_gene_variant,,ENST00000487496,;	9331	626	729	SUCCESS
CLCNKB	1188	.	GRCh37	1	16374904	16374904	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1411519836	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	431	54	333	0	ENST00000375679.4:c.565G>C	p.Gly189Arg	p.G189R	ENST00000375679	NM_000085.4	189	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS168.1	565	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGGGGAG	NONE	.	.	Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689:SF78,hmmpanther:PTHR11689	.	.	ENSP00000364831	.	6/20	.	.	.	.	.	.	.	.	.	6/20	nonpreferredpair	ENST00000375679	Transcript	.	.	ENSG00000184908	2027	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.325)	.	tolerated(0.07)	.	CLCKB_HUMAN	CLCNKB	HGNC	.	.	UPI000040E261	SNV	CLCNKB,missense_variant,p.Gly189Arg,ENST00000375679,;CLCNKB,upstream_gene_variant,,ENST00000375667,;CLCNKB,upstream_gene_variant,,ENST00000431772,;	676	333	486	SUCCESS
FBXO28	23219	.	GRCh37	1	224345363	224345363	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758652737	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	210	9	134	0	ENST00000366862.5:c.1022A>T	p.Asn341Ile	p.N341I	ENST00000366862	NM_015176.3	341	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS1539.1	1022	MUTECT|MUSE	.	GCAGAATGAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13252	.	.	ENSP00000355827	.	5/5	.	.	.	.	.	.	.	.	rs758652737	5/5	nonpreferredpair	ENST00000366862	Transcript	.	.	ENSG00000143756	29046	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.202)	.	deleterious(0.05)	.	FBX28_HUMAN	FBXO28	HGNC	B4E0H5_HUMAN	.	UPI000006F1C1	SNV	FBXO28,missense_variant,p.Asn341Ile,ENST00000366862,;FBXO28,3_prime_UTR_variant,,ENST00000424254,;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	1065	134	219	SUCCESS
PIK3CD	5293	.	GRCh37	1	9777146	9777146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	85	169	0	ENST00000377346.4:c.910C>T	p.Pro304Ser	p.P304S	ENST00000377346	NM_005026.3	304	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS104.1	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACCTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048	.	.	ENSP00000366563	.	7/24	.	.	.	.	.	.	.	.	.	7/24	nonpreferredpair	ENST00000377346	Transcript	.	.	ENSG00000171608	8977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	tolerated(0.49)	.	PK3CD_HUMAN	PIK3CD	HGNC	B7ZM44_HUMAN	.	UPI000013E807	SNV	PIK3CD,missense_variant,p.Pro269Ser,ENST00000536656,;PIK3CD,missense_variant,p.Pro304Ser,ENST00000377346,;PIK3CD,missense_variant,p.Pro269Ser,ENST00000361110,;PIK3CD,upstream_gene_variant,,ENST00000543390,;PIK3CD,non_coding_transcript_exon_variant,,ENST00000479223,;PIK3CD,downstream_gene_variant,,ENST00000481137,;	1105	169	237	SUCCESS
TMC2	117532	.	GRCh37	20	2591138	2591138	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	31	185	0	ENST00000358864.1:c.1487A>T	p.Tyr496Phe	p.Y496F	ENST00000358864	NM_080751.2	496	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS13029.2	1487	RADIA|MUTECT|MUSE|VARSCANS	.	GAATTACCACC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17	.	.	ENSP00000351732	.	12/20	.	.	.	.	.	.	.	.	.	12/20	nonpreferredpair	ENST00000358864	Transcript	.	.	ENSG00000149488	16527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	TMC2_HUMAN	TMC2	HGNC	.	.	UPI0000246C98	SNV	TMC2,missense_variant,p.Tyr496Phe,ENST00000358864,;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	1502	185	234	SUCCESS
LPIN3	64900	.	GRCh37	20	39985824	39985824	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	79	156	1	ENST00000373257.3:c.1948A>G	p.Thr650Ala	p.T650A	ENST00000373257	NM_022896.1	650	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33469.1	1948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCACCAAG	NONE	.	.	hmmpanther:PTHR12181:SF32,hmmpanther:PTHR12181,Gene3D:3.40.50.1000,Pfam_domain:PF08235,SMART_domains:SM00775,Superfamily_domains:SSF56784	.	.	ENSP00000362354	.	15/20	.	.	.	.	.	.	.	.	.	15/20	nonpreferredpair	ENST00000373257	Transcript	.	.	ENSG00000132793	14451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LPIN3_HUMAN	LPIN3	HGNC	.	.	UPI0000470AE3	SNV	LPIN3,missense_variant,p.Thr650Ala,ENST00000373257,;LPIN3,missense_variant,p.Thr140Ala,ENST00000445975,;EMILIN3,downstream_gene_variant,,ENST00000332312,;LPIN3,non_coding_transcript_exon_variant,,ENST00000496565,;LPIN3,upstream_gene_variant,,ENST00000491528,;	2039	157	223	SUCCESS
PHACTR3	116154	.	GRCh37	20	58416548	58416548	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	34	205	0	ENST00000371015.1:c.1545G>A	p.Arg515=	p.R515=	ENST00000371015	NM_080672.4	515	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13480.1	1545	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGAGGGC	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	11/13	.	.	.	.	.	.	.	.	COSM343583	11/13	nonpreferredpair	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,synonymous_variant,p.%3D,ENST00000541461,;PHACTR3,synonymous_variant,p.%3D,ENST00000395636,;PHACTR3,synonymous_variant,p.%3D,ENST00000395639,;PHACTR3,synonymous_variant,p.%3D,ENST00000359926,;PHACTR3,synonymous_variant,p.%3D,ENST00000355648,;PHACTR3,synonymous_variant,p.%3D,ENST00000361300,;PHACTR3,synonymous_variant,p.%3D,ENST00000371015,;PHACTR3,non_coding_transcript_exon_variant,,ENST00000492611,;PHACTR3,upstream_gene_variant,,ENST00000473657,;	2012	205	220	SUCCESS
STMN3	50861	.	GRCh37	20	62275626	62275626	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484691556	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	37	100	0	ENST00000370053.1:c.56C>T	p.Ser19Leu	p.S19L	ENST00000370053	NM_015894.3	19	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS13529.1	56	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGACAGC	NONE	.	.	hmmpanther:PTHR10104:SF17,hmmpanther:PTHR10104,PIRSF_domain:PIRSF002285	.	.	ENSP00000359070	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000370053	Transcript	.	.	ENSG00000197457	15926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious(0.01)	.	STMN3_HUMAN	STMN3	HGNC	B7Z5G4_HUMAN	.	UPI000013611C	SNV	STMN3,missense_variant,p.Ser19Leu,ENST00000370053,;STMN3,missense_variant,p.Ser8Leu,ENST00000540534,;	138	100	115	SUCCESS
ANGPT4	51378	.	GRCh37	20	861812	861812	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	48	111	0	ENST00000381922.3:c.951+2T>G		p.X317_splice	ENST00000381922	NM_015985.2	317		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13009.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTAACCTTC	NONE	.	.	.	.	.	ENSP00000371347	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000381922	Transcript	.	.	ENSG00000101280	487	.	.	HIGH	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGP4_HUMAN	ANGPT4	HGNC	.	.	UPI0000062232	SNV	ANGPT4,splice_donor_variant,,ENST00000546022,;ANGPT4,splice_donor_variant,,ENST00000381922,;	.	111	135	SUCCESS
TTC3	7267	.	GRCh37	21	38538717	38538717	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	55	124	0	ENST00000354749.2:c.4201G>A	p.Ala1401Thr	p.A1401T	ENST00000354749		1401	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13651.1	4201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGCCTCT	NONE	.	.	hmmpanther:PTHR17550	.	.	ENSP00000381981	.	33/46	.	.	.	.	.	.	.	.	.	33/46	nonpreferredpair	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.18)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Ala1401Thr,ENST00000354749,;TTC3,missense_variant,p.Ala1401Thr,ENST00000355666,;TTC3,missense_variant,p.Ala1401Thr,ENST00000399017,;TTC3,downstream_gene_variant,,ENST00000438055,;TTC3,downstream_gene_variant,,ENST00000418766,;TTC3,downstream_gene_variant,,ENST00000411496,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,downstream_gene_variant,,ENST00000487711,;TTC3,downstream_gene_variant,,ENST00000469939,;TTC3,downstream_gene_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;	6948	124	196	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43808542	43808542	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1255143070	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	85	171	0	ENST00000291532.3:c.416A>G	p.Asn139Ser	p.N139S	ENST00000291532	NM_032404.2	139	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13686.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATTTGCG	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,PROSITE_patterns:PS00420,Pfam_domain:PF15494,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000291532	.	5/13	.	.	.	.	.	.	.	.	.	5/13	nonpreferredpair	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.58)	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,missense_variant,p.Asn139Ser,ENST00000433957,;TMPRSS3,missense_variant,p.Asn137Ser,ENST00000398405,;TMPRSS3,missense_variant,p.Asn223Ser,ENST00000380399,;TMPRSS3,missense_variant,p.Asn139Ser,ENST00000291532,;TMPRSS3,missense_variant,p.Asn139Ser,ENST00000398397,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;TMPRSS3,upstream_gene_variant,,ENST00000476848,;	1372	171	260	SUCCESS
RIMBP3	85376	.	GRCh37	22	20458280	20458280	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	38	141	0	ENST00000426804.1:c.3022T>G	p.Ser1008Ala	p.S1008A	ENST00000426804	NM_015672.1	1008	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS46665.1	3022	RADIA|VARSCANS	.	GGCTGATGTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.187)	.	deleterious(0.03)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Ser1008Ala,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3507	141	211	SUCCESS
SLC20A1	6574	.	GRCh37	2	113416962	113416962	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	84	261	0	ENST00000272542.3:c.1230A>G	p.Lys410=	p.K410=	ENST00000272542	NM_005415.4	410	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS2099.1	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAACCCTT	NONE	.	.	hmmpanther:PTHR11101:SF46,hmmpanther:PTHR11101,Pfam_domain:PF01384	.	.	ENSP00000272542	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000272542	Transcript	.	.	ENSG00000144136	10946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S20A1_HUMAN	SLC20A1	HGNC	A7LNJ1_HUMAN	.	UPI0000071362	SNV	SLC20A1,synonymous_variant,p.%3D,ENST00000433924,;SLC20A1,synonymous_variant,p.%3D,ENST00000272542,;SLC20A1,downstream_gene_variant,,ENST00000480984,;SLC20A1,3_prime_UTR_variant,,ENST00000413135,;SLC20A1,non_coding_transcript_exon_variant,,ENST00000490674,;SLC20A1,downstream_gene_variant,,ENST00000498224,;SLC20A1,downstream_gene_variant,,ENST00000456264,;	1769	261	259	SUCCESS
IL36B	27177	.	GRCh37	2	113786633	113786633	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	94	0	ENST00000259213.4:c.144T>A	p.Cys48Ter	p.C48*	ENST00000259213	NM_014438.4	48	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS2109.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTACAGGC	NONE	.	.	hmmpanther:PTHR10078,hmmpanther:PTHR10078:SF11,Gene3D:2.80.10.50,Superfamily_domains:SSF50353	.	.	ENSP00000259213	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000259213	Transcript	.	.	ENSG00000136696	15564	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL36B_HUMAN	IL36B	HGNC	.	.	UPI000003C9C0	SNV	IL36B,stop_gained,p.Cys48Ter,ENST00000327407,;IL36B,stop_gained,p.Cys48Ter,ENST00000259213,;	252	94	109	SUCCESS
GLI2	2736	.	GRCh37	2	121747764	121747764	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748233304	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	51	0	ENST00000361492.4:c.4274G>T	p.Gly1425Val	p.G1425V	ENST00000361492	NM_005270.4	1425	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33283.1	4274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGGTCGG	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	rs748233304	14/14	nonpreferredpair	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.4)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Gly1425Val,ENST00000452319,;GLI2,missense_variant,p.Gly1425Val,ENST00000361492,;GLI2,intron_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	4334	51	126	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131674421	131674421	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	92	0	ENST00000326016.5:c.-322A>T		p.*108*	ENST00000326016	NM_015320.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCACCCTA	NONE	.	.	.	.	.	ENSP00000316845	.	1/14	.	.	.	.	.	.	.	.	.	1/14	nonpreferredpair	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Thr638Ser,ENST00000409359,;ARHGEF4,5_prime_UTR_variant,,ENST00000392953,;ARHGEF4,5_prime_UTR_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	198	92	99	SUCCESS
TTN	7273	.	GRCh37	2	179424403	179424403	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	20	153	0	ENST00000591111.1:c.81533A>G	p.Asp27178Gly	p.D27178G	ENST00000591111		27178	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS59435.1	86456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTCATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp19879Gly,ENST00000359218,;TTN,missense_variant,p.Asp27178Gly,ENST00000591111,;TTN,missense_variant,p.Asp28819Gly,ENST00000589042,;TTN,missense_variant,p.Asp19946Gly,ENST00000342175,;TTN,missense_variant,p.Asp26251Gly,ENST00000342992,;TTN,missense_variant,p.Asp19754Gly,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	86681	153	124	SUCCESS
COL3A1	1281	.	GRCh37	2	189873705	189873705	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1553509744	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	99	0	ENST00000304636.3:c.3581G>A	p.Gly1194Asp	p.G1194D	ENST00000304636	NM_000090.3	1194	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS2297.1	3581	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGTCCTT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	48/51	.	.	.	.	.	.	.	.	.	48/51	nonpreferredpair	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Gly891Asp,ENST00000317840,;COL3A1,missense_variant,p.Gly1194Asp,ENST00000304636,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;	3751	99	97	SUCCESS
CAPN13	92291	.	GRCh37	2	30980909	30980909	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	60	0	ENST00000295055.8:c.866+3A>G		p.X289_splice	ENST00000295055	NM_144575.2	289		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46252.1	.	RADIA|MUSE|VARSCANS	.	AGCCATACCCA	NONE	.	.	.	.	.	ENSP00000295055	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	8/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,splice_region_variant,,ENST00000534090,;CAPN13,splice_region_variant,,ENST00000295055,;CAPN13,downstream_gene_variant,,ENST00000465960,;CAPN13,splice_region_variant,,ENST00000458085,;	.	60	91	SUCCESS
ASTL	431705	.	GRCh37	2	96803391	96803391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	12	57	0	ENST00000342380.2:c.104G>A	p.Gly35Asp	p.G35D	ENST00000342380	NM_001002036.3	35	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33249.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTACCACAG	NONE	.	.	.	.	.	ENSP00000343674	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.35)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Gly35Asp,ENST00000342380,;ASTL,non_coding_transcript_exon_variant,,ENST00000470582,;	104	57	78	SUCCESS
ZBTB11	27107	.	GRCh37	3	101383939	101383939	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370264120	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	19	128	0	ENST00000312938.4:c.1492C>T	p.Pro498Ser	p.P498S	ENST00000312938	NM_014415.3	498	Cct/Tct	0	A:0.0002	.	.	.	.	A	P/S	protein_coding	YES	CCDS2943.1	1492	RADIA|MUSE|VARSCANS	.	ATCAGGGCCAA	NONE	.	.	hmmpanther:PTHR24387:SF4,hmmpanther:PTHR24387	.	A:0	ENSP00000326200	.	4/11	.	.	.	.	.	.	.	.	rs370264120	4/11	nonpreferredpair	ENST00000312938	Transcript	.	.	ENSG00000066422	16740	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.49)	.	ZBT11_HUMAN	ZBTB11	HGNC	Q59H97_HUMAN,B3KN38_HUMAN	.	UPI000013D5E3	SNV	ZBTB11,missense_variant,p.Pro498Ser,ENST00000312938,;Y_RNA,upstream_gene_variant,,ENST00000364251,;	2073	128	169	SUCCESS
CD200	4345	.	GRCh37	3	112066565	112066565	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	29	107	0	ENST00000473539.1:c.657T>A	p.Ser219=	p.S219=	ENST00000473539	NM_001004196.2	219	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33818.1	657	RADIA|MUTECT|MUSE	.	ACGTCTGTTAC	NONE	.	.	hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49,Pfam_domain:PF00047,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000420298	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000473539	Transcript	.	.	ENSG00000091972	7203	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OX2G_HUMAN	CD200	HGNC	U3KQQ2_HUMAN,F8W7G1_HUMAN	.	UPI00004DF0E4	SNV	CD200,synonymous_variant,p.%3D,ENST00000315711,;CD200,synonymous_variant,p.%3D,ENST00000383681,;CD200,synonymous_variant,p.%3D,ENST00000473539,;CD200,synonymous_variant,p.%3D,ENST00000606471,;CD200,downstream_gene_variant,,ENST00000607597,;CD200,3_prime_UTR_variant,,ENST00000498096,;CD200,3_prime_UTR_variant,,ENST00000478595,;	714	107	172	SUCCESS
CAND2	23066	.	GRCh37	3	12861637	12861637	+	synonymous_variant	Silent	SNP	G	G	C	rs145134860	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	48	121	0	ENST00000456430.2:c.2997G>C	p.Ser999=	p.S999=	ENST00000456430	NM_001162499.1	999	tcG/tcC	0	A:0	A:0	.	A:0.0014	.	C	S	protein_coding	YES	CCDS54554.1	2997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCGGACCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	A:0.001	A:0.0002	ENSP00000387641	A:0.002	11/15	.	.	.	.	.	.	.	.	rs145134860	11/15	nonpreferredpair	ENST00000456430	Transcript	.	A:0.0010	ENSG00000144712	30689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,synonymous_variant,p.%3D,ENST00000456430,;CAND2,synonymous_variant,p.%3D,ENST00000295989,;	3038	121	176	SUCCESS
CAND2	23066	.	GRCh37	3	12861638	12861638	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	48	118	0	ENST00000456430.2:c.2998G>T	p.Asp1000Tyr	p.D1000Y	ENST00000456430	NM_001162499.1	1000	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54554.1	2998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCGGACCAG	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	11/15	.	.	.	.	.	.	.	.	.	11/15	nonpreferredpair	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Asp1000Tyr,ENST00000456430,;CAND2,missense_variant,p.Asp907Tyr,ENST00000295989,;	3039	118	176	SUCCESS
HTR3C	170572	.	GRCh37	3	183777775	183777775	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs556123764	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	28	0	ENST00000318351.1:c.1085C>A	p.Pro362His	p.P362H	ENST00000318351	NM_130770.2	362	cCc/cAc	0	.	A:0	.	A:0.0014	.	A	P/H	protein_coding	YES	CCDS3250.1	1085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCACTG	NONE	by1000G	.	hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	A:0	.	ENSP00000322617	A:0	8/9	.	.	.	.	.	.	.	.	rs556123764	8/9	nonpreferredpair	ENST00000318351	Transcript	.	A:0.0002	ENSG00000178084	24003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	A:0	deleterious(0.01)	.	5HT3C_HUMAN	HTR3C	HGNC	.	.	UPI00001402D6	SNV	HTR3C,missense_variant,p.Pro362His,ENST00000318351,;	1119	28	62	SUCCESS
HTR3C	170572	.	GRCh37	3	183777776	183777776	+	synonymous_variant	Silent	SNP	C	C	A	rs575185101	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	27	0	ENST00000318351.1:c.1086C>A	p.Pro362=	p.P362=	ENST00000318351	NM_130770.2	362	ccC/ccA	0	.	G:0	.	G:0.0014	.	A	P	protein_coding	YES	CCDS3250.1	1086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCACTGC	NONE	by1000G	.	hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	G:0	.	ENSP00000322617	G:0	8/9	.	.	.	.	.	.	.	.	rs575185101	8/9	nonpreferredpair	ENST00000318351	Transcript	.	G:0.0002	ENSG00000178084	24003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	5HT3C_HUMAN	HTR3C	HGNC	.	.	UPI00001402D6	SNV	HTR3C,synonymous_variant,p.%3D,ENST00000318351,;	1120	27	62	SUCCESS
TCAIM	285343	.	GRCh37	3	44442771	44442771	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	54	0	ENST00000342649.4:c.1195T>A	p.Trp399Arg	p.W399R	ENST00000342649	NM_173826.3	399	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS2712.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTGGTTT	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	10/11	.	.	.	.	.	.	.	.	.	10/11	nonpreferredpair	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.36)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Trp399Arg,ENST00000342649,;TCAIM,missense_variant,p.Trp399Arg,ENST00000417237,;TCAIM,non_coding_transcript_exon_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;TCAIM,downstream_gene_variant,,ENST00000417768,;	1622	54	73	SUCCESS
TREX1	11277	.	GRCh37	3	48508185	48508185	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	59	121	0	ENST00000422277.2:c.296T>C	p.Leu99Pro	p.L99P	ENST00000422277	NM_016381.4	99	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS43086.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGGAGA	NONE	.	.	hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF12,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000390478	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000422277	Transcript	.	.	ENSG00000213689	12269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TREX1_HUMAN	TREX1	HGNC	Q5TZT0_HUMAN,C9J052_HUMAN	.	UPI00000411D8	SNV	TREX1,missense_variant,p.Leu34Pro,ENST00000444177,;TREX1,missense_variant,p.Leu44Pro,ENST00000296443,;TREX1,missense_variant,p.Leu99Pro,ENST00000422277,;TREX1,missense_variant,p.Leu44Pro,ENST00000436480,;TREX1,5_prime_UTR_variant,,ENST00000433541,;TREX1,intron_variant,,ENST00000456089,;ATRIP,downstream_gene_variant,,ENST00000320211,;SHISA5,downstream_gene_variant,,ENST00000296444,;SHISA5,downstream_gene_variant,,ENST00000442747,;ATRIP,downstream_gene_variant,,ENST00000357105,;SHISA5,downstream_gene_variant,,ENST00000444115,;SHISA5,downstream_gene_variant,,ENST00000417841,;ATRIP,downstream_gene_variant,,ENST00000346691,;ATRIP,downstream_gene_variant,,ENST00000412052,;SHISA5,downstream_gene_variant,,ENST00000426002,;SHISA5,downstream_gene_variant,,ENST00000443308,;TREX1,non_coding_transcript_exon_variant,,ENST00000492235,;SHISA5,downstream_gene_variant,,ENST00000486344,;SHISA5,downstream_gene_variant,,ENST00000466424,;SHISA5,downstream_gene_variant,,ENST00000465449,;TREX1,non_coding_transcript_exon_variant,,ENST00000395677,;SHISA5,downstream_gene_variant,,ENST00000494854,;SHISA5,downstream_gene_variant,,ENST00000460758,;ATRIP,downstream_gene_variant,,ENST00000424906,;SHISA5,downstream_gene_variant,,ENST00000417962,;SHISA5,downstream_gene_variant,,ENST00000415268,;SHISA5,downstream_gene_variant,,ENST00000424965,;SHISA5,downstream_gene_variant,,ENST00000497863,;	957	121	189	SUCCESS
CIDEC	63924	.	GRCh37	3	9911995	9911995	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	53	0	ENST00000336832.2:c.219T>C	p.Thr73=	p.T73=	ENST00000336832	NM_022094.3	73	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS56239.1	249	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAGTGTC	NONE	.	.	Superfamily_domains:SSF54277,SMART_domains:SM00266,Pfam_domain:PF02017,Gene3D:3.10.20.10,hmmpanther:PTHR12306:SF9,hmmpanther:PTHR12306,PROSITE_profiles:PS51135	.	.	ENSP00000408631	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000430427	Transcript	.	.	ENSG00000187288	24229	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CIDEC_HUMAN	CIDEC	HGNC	.	.	UPI000020AADB	SNV	CIDEC,synonymous_variant,p.%3D,ENST00000336832,;CIDEC,synonymous_variant,p.%3D,ENST00000430427,;CIDEC,5_prime_UTR_variant,,ENST00000455015,;CIDEC,5_prime_UTR_variant,,ENST00000423850,;CIDEC,intron_variant,,ENST00000383817,;CIDEC,intron_variant,,ENST00000443115,;	274	53	60	SUCCESS
DNAJB14	79982	.	GRCh37	4	100844269	100844270	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	157	43	148	0	ENST00000442697.2:c.378dup	p.Ala127SerfsTer3	p.A127Sfs*3	ENST00000442697	NM_001278310.1	126	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS34035.1	378-379	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAAGCTTTTT	NONE	.	.	Prints_domain:PR00625,Superfamily_domains:SSF46565,SMART_domains:SM00271,Gene3D:1.10.287.110,Pfam_domain:PF00226,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF212,PROSITE_profiles:PS50076	.	.	ENSP00000404381	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000442697	Transcript	.	.	ENSG00000164031	25881	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DJB14_HUMAN	DNAJB14	HGNC	F2Z2L8_HUMAN	.	UPI0000072A32	insertion	DNAJB14,frameshift_variant,p.Ala127SerfsTer3,ENST00000442697,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000493110,;DNAJB14,downstream_gene_variant,,ENST00000471738,;DNAJB14,3_prime_UTR_variant,,ENST00000398991,;DNAJB14,3_prime_UTR_variant,,ENST00000334223,;DNAJB14,3_prime_UTR_variant,,ENST00000420137,;DNAJB14,3_prime_UTR_variant,,ENST00000426476,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000474664,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000471101,;DNAJB14,downstream_gene_variant,,ENST00000469942,;	533-534	148	200	SUCCESS
TACR3	6870	.	GRCh37	4	104640550	104640550	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139574028	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	9	134	0	ENST00000304883.2:c.283G>T	p.Val95Leu	p.V95L	ENST00000304883	NM_001059.2	95	Gtg/Ttg	0	A:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS3664.1	283	MUTECT|MUSE	.	CACCACCACAC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0006	ENSP00000303325	.	1/5	.	.	.	.	.	.	.	.	rs139574028	1/5	nonpreferredpair	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.53)	.	tolerated(0.32)	.	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	SNV	TACR3,missense_variant,p.Val95Leu,ENST00000304883,;	424	134	153	SUCCESS
PCDH18	54510	.	GRCh37	4	138450774	138450774	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375416110	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	51	161	0	ENST00000344876.4:c.2469C>A	p.His823Gln	p.H823Q	ENST00000344876	NM_019035.3	823	caC/caA	0	A:0	.	.	.	.	T	H/Q	protein_coding	YES	CCDS34064.1	2469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTGGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9	.	A:0.0001	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	rs375416110	1/4	nonpreferredpair	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.25)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.His34Gln,ENST00000510305,;PCDH18,missense_variant,p.His823Gln,ENST00000344876,;PCDH18,missense_variant,p.His603Gln,ENST00000507846,;PCDH18,missense_variant,p.His823Gln,ENST00000412923,;PCDH18,intron_variant,,ENST00000511115,;	2856	161	155	SUCCESS
TMEM232	642987	.	GRCh37	5	109976647	109976647	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	97	224	0	ENST00000455884.2:c.288T>A	p.Pro96=	p.P96=	ENST00000455884		96	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47253.2	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGGAAG	NONE	.	.	.	.	.	ENSP00000401477	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000455884	Transcript	.	.	ENSG00000186952	37270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM232_HUMAN	TMEM232	HGNC	D6REY3_HUMAN,D6RC30_HUMAN	.	UPI00017A7675	SNV	TMEM232,synonymous_variant,p.%3D,ENST00000511883,;TMEM232,synonymous_variant,p.%3D,ENST00000429839,;TMEM232,synonymous_variant,p.%3D,ENST00000515278,;TMEM232,synonymous_variant,p.%3D,ENST00000512886,;TMEM232,synonymous_variant,p.%3D,ENST00000455884,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,intron_variant,,ENST00000512003,;	339	224	332	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140348025	140348025	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	53	122	0	ENST00000289269.5:c.1674A>G	p.Pro558=	p.P558=	ENST00000289269	NM_018899.5	558	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4242.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCACTGAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,PROSITE_profiles:PS50268	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,synonymous_variant,p.%3D,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2206	122	147	SUCCESS
PRELID1	27166	.	GRCh37	5	176732982	176732982	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	60	0	ENST00000303204.4:c.429C>G	p.Val143=	p.V143=	ENST00000303204	NM_013237.3	143	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4415.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCCAGGT	NONE	.	.	Pfam_domain:PF04707,hmmpanther:PTHR11158:SF21,hmmpanther:PTHR11158,PROSITE_profiles:PS50904	.	.	ENSP00000302114	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000303204	Transcript	.	.	ENSG00000169230	30255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRLD1_HUMAN	PRELID1	HGNC	.	.	UPI0000070DF2	SNV	PRELID1,synonymous_variant,p.%3D,ENST00000303204,;PRELID1,synonymous_variant,p.%3D,ENST00000503853,;PRELID1,synonymous_variant,p.%3D,ENST00000503216,;MXD3,3_prime_UTR_variant,,ENST00000427908,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;RAB24,upstream_gene_variant,,ENST00000504395,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;PRELID1,3_prime_UTR_variant,,ENST00000510797,;PRELID1,3_prime_UTR_variant,,ENST00000504594,;PRELID1,non_coding_transcript_exon_variant,,ENST00000511309,;PRELID1,non_coding_transcript_exon_variant,,ENST00000510701,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;MXD3,downstream_gene_variant,,ENST00000503782,;RAB24,upstream_gene_variant,,ENST00000512758,;RAB24,upstream_gene_variant,,ENST00000495458,;	641	60	69	SUCCESS
MIR1229	100302156	.	GRCh37	5	179225329	179225329	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	53	0	ENST00000408467.1:n.18G>T		p.*6*	ENST00000408467				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4449.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCCCCA	NONE	.	.	.	.	.	ENSP00000338487	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000337755	Transcript	.	.	ENSG00000161013	7048	.	.	MODIFIER	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT4B_HUMAN	MGAT4B	HGNC	E5RFS3_HUMAN	.	UPI000015F50B	SNV	MGAT4B,intron_variant,,ENST00000520875,;MGAT4B,intron_variant,,ENST00000518778,;MGAT4B,intron_variant,,ENST00000292591,;MGAT4B,intron_variant,,ENST00000519836,;MGAT4B,intron_variant,,ENST00000520969,;MGAT4B,intron_variant,,ENST00000518980,;MGAT4B,intron_variant,,ENST00000337755,;LTC4S,downstream_gene_variant,,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000518867,;LTC4S,downstream_gene_variant,,ENST00000292596,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,non_coding_transcript_exon_variant,,ENST00000408467,;MGAT4B,intron_variant,,ENST00000523382,;MGAT4B,intron_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000519616,;MAML1,downstream_gene_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,downstream_gene_variant,,ENST00000520134,;MGAT4B,intron_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000518168,;LTC4S,downstream_gene_variant,,ENST00000505170,;MGAT4B,downstream_gene_variant,,ENST00000523329,;MGAT4B,downstream_gene_variant,,ENST00000521855,;LTC4S,downstream_gene_variant,,ENST00000465572,;MGAT4B,downstream_gene_variant,,ENST00000520918,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000520822,;LTC4S,downstream_gene_variant,,ENST00000486713,;MGAT4B,downstream_gene_variant,,ENST00000518702,;LTC4S,downstream_gene_variant,,ENST00000509898,;	.	53	116	SUCCESS
IRX1	79192	.	GRCh37	5	3599429	3599429	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	12	41	0	ENST00000302006.3:c.367T>A	p.Phe123Ile	p.F123I	ENST00000302006	NM_024337.3	123	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS34132.1	367	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTTCCAA	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Phe123Ile,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	419	41	108	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79733987	79733987	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	6	103	0	ENST00000338008.5:c.1483T>G	p.Cys495Gly	p.C495G	ENST00000338008	NM_014733.3	495	Tgt/Ggt	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS4050.1	1483	MUTECT|MUSE	.	CTGATTGTTGT	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43,PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	3/18	.	.	.	.	.	.	.	.	.	3/18	nonpreferredpair	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.33)	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,missense_variant,p.Cys495Gly,ENST00000338008,;ZFYVE16,missense_variant,p.Cys495Gly,ENST00000505560,;ZFYVE16,missense_variant,p.Cys495Gly,ENST00000510158,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,upstream_gene_variant,,ENST00000511829,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000509558,;	1663	103	131	SUCCESS
ROS1	6098	.	GRCh37	6	117709158	117709158	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	40	77	0	ENST00000368508.3:c.1799T>G	p.Leu600Ter	p.L600*	ENST00000368508	NM_002944.2	600	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS5116.1	1799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTAATTCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000357494	.	13/43	.	.	.	.	.	.	.	.	.	13/43	nonpreferredpair	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,stop_gained,p.Leu600Ter,ENST00000368508,;ROS1,splice_region_variant,,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;	1998	77	72	SUCCESS
APOM	55937	.	GRCh37	6	31623724	31623724	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	40	142	0	ENST00000375916.3:c.-20C>T		p.*7*	ENST00000375916	NM_019101.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4710.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCAGCTC	NONE	.	.	.	.	.	ENSP00000365081	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000375916	Transcript	.	.	ENSG00000204444	13916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOM_HUMAN	APOM	HGNC	.	.	UPI00000369DE	SNV	APOM,5_prime_UTR_variant,,ENST00000375916,;APOM,intron_variant,,ENST00000375918,;APOM,intron_variant,,ENST00000375920,;BAG6,upstream_gene_variant,,ENST00000375976,;BAG6,upstream_gene_variant,,ENST00000424176,;BAG6,upstream_gene_variant,,ENST00000362049,;BAG6,upstream_gene_variant,,ENST00000435080,;BAG6,upstream_gene_variant,,ENST00000437771,;BAG6,upstream_gene_variant,,ENST00000375964,;BAG6,upstream_gene_variant,,ENST00000441054,;BAG6,upstream_gene_variant,,ENST00000454165,;BAG6,upstream_gene_variant,,ENST00000452994,;BAG6,upstream_gene_variant,,ENST00000211379,;C6orf47,downstream_gene_variant,,ENST00000375911,;BAG6,upstream_gene_variant,,ENST00000451898,;BAG6,upstream_gene_variant,,ENST00000428326,;BAG6,upstream_gene_variant,,ENST00000404765,;BAG6,upstream_gene_variant,,ENST00000456622,;BAG6,upstream_gene_variant,,ENST00000434444,;BAG6,upstream_gene_variant,,ENST00000439687,;BAG6,upstream_gene_variant,,ENST00000424480,;BAG6,upstream_gene_variant,,ENST00000456286,;BAG6,upstream_gene_variant,,ENST00000433828,;C6orf47-AS1,upstream_gene_variant,,ENST00000422049,;	477	143	144	SUCCESS
DST	667	.	GRCh37	6	56494239	56494239	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	50	0	ENST00000244364.6:c.2673A>T	p.Gln891His	p.Q891H	ENST00000244364	NM_015548.4	891	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47443.1	2673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATTGCTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38	.	.	ENSP00000244364	.	18/84	.	.	.	.	.	.	.	.	.	18/84	nonpreferredpair	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Gln891His,ENST00000439203,;DST,missense_variant,p.Gln891His,ENST00000446842,;DST,missense_variant,p.Gln1217His,ENST00000370788,;DST,missense_variant,p.Gln891His,ENST00000244364,;DST,missense_variant,p.Gln1257His,ENST00000520645,;DST,missense_variant,p.Gln891His,ENST00000370765,;DST,missense_variant,p.Gln1395His,ENST00000370754,;DST,missense_variant,p.Gln1217His,ENST00000361203,;DST,missense_variant,p.Gln1217His,ENST00000370769,;DST,missense_variant,p.Gln1217His,ENST00000312431,;DST,missense_variant,p.Gln1217His,ENST00000421834,;DST,missense_variant,p.Gln891His,ENST00000518935,;DST,upstream_gene_variant,,ENST00000522360,;	2881	50	57	SUCCESS
ASB10	136371	.	GRCh37	7	150878543	150878543	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	76	0	ENST00000420175.2:c.587G>A	p.Cys196Tyr	p.C196Y	ENST00000420175		196	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47750.2	587	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACACCTA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000391137	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Cys196Tyr,ENST00000275838,;ASB10,missense_variant,p.Cys241Tyr,ENST00000434669,;ASB10,missense_variant,p.Cys181Tyr,ENST00000377867,;ASB10,missense_variant,p.Cys196Tyr,ENST00000420175,;ASB10,missense_variant,p.Cys241Tyr,ENST00000422024,;	612	76	106	SUCCESS
DPY19L1	23333	.	GRCh37	7	35013135	35013135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	34	105	0	ENST00000310974.4:c.686A>G	p.His229Arg	p.H229R	ENST00000310974	NM_015283.1	229	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS43567.1	686	RADIA|MUTECT|MUSE	.	GAATATGAGTC	NONE	.	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	.	.	ENSP00000308695	.	8/22	.	.	.	.	.	.	.	.	.	8/22	nonpreferredpair	ENST00000310974	Transcript	.	.	ENSG00000173852	22205	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	tolerated(0.1)	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,missense_variant,p.His229Arg,ENST00000310974,;DPY19L1,missense_variant,p.His28Arg,ENST00000446375,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000462134,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000463538,;	831	105	122	SUCCESS
DPY19L1	23333	.	GRCh37	7	35013143	35013143	+	synonymous_variant	Silent	SNP	T	T	C	rs199681894	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	35	105	0	ENST00000310974.4:c.678A>G	p.Leu226=	p.L226=	ENST00000310974	NM_015283.1	226	ctA/ctG	0	.	A:0	.	A:0	.	C	L	protein_coding	YES	CCDS43567.1	678	RADIA|MUTECT|MUSE	.	GTCACTAGCAA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	A:0.001	.	ENSP00000308695	A:0.004	8/22	.	.	.	.	.	.	.	.	rs199681894	8/22	nonpreferredpair	ENST00000310974	Transcript	.	A:0.0012	ENSG00000173852	22205	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.001	.	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,synonymous_variant,p.%3D,ENST00000310974,;DPY19L1,synonymous_variant,p.%3D,ENST00000446375,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000462134,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000463538,;	823	105	122	SUCCESS
PGAM2	5224	.	GRCh37	7	44105137	44105137	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	66	0	ENST00000297283.3:c.-9G>T		p.*3*	ENST00000297283	NM_000290.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34624.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCAGGGA	NONE	.	.	.	.	.	ENSP00000297283	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000297283	Transcript	.	.	ENSG00000164708	8889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGAM2_HUMAN	PGAM2	HGNC	.	.	UPI000013E3E8	SNV	PGAM2,5_prime_UTR_variant,,ENST00000297283,;DBNL,3_prime_UTR_variant,,ENST00000432854,;DBNL,downstream_gene_variant,,ENST00000448521,;DBNL,downstream_gene_variant,,ENST00000452661,;DBNL,downstream_gene_variant,,ENST00000456905,;DBNL,downstream_gene_variant,,ENST00000494774,;DBNL,downstream_gene_variant,,ENST00000452943,;DBNL,downstream_gene_variant,,ENST00000468694,;DBNL,downstream_gene_variant,,ENST00000490734,;DBNL,downstream_gene_variant,,ENST00000440166,;AC017116.11,intron_variant,,ENST00000425727,;AC017116.11,intron_variant,,ENST00000445938,;DBNL,downstream_gene_variant,,ENST00000497184,;DBNL,downstream_gene_variant,,ENST00000498733,;DBNL,downstream_gene_variant,,ENST00000449997,;DBNL,downstream_gene_variant,,ENST00000429716,;DBNL,downstream_gene_variant,,ENST00000411855,;DBNL,downstream_gene_variant,,ENST00000441840,;	50	66	120	SUCCESS
PEG10	23089	.	GRCh37	7	94293118	94293118	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	35	148	0	ENST00000482108.1:c.250G>A	p.Glu84Lys	p.E84K	ENST00000482108	NM_001172437.1	84	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55126.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGAGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.08)	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,missense_variant,p.Glu84Lys,ENST00000482108,;PEG10,missense_variant,p.Glu84Lys,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	729	148	166	SUCCESS
UBR5	51366	.	GRCh37	8	103324043	103324043	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1212222560	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	48	169	0	ENST00000520539.1:c.2338C>G	p.Gln780Glu	p.Q780E	ENST00000520539	NM_015902.5	780	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS34933.1	2338	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGTTCTG	NONE	.	.	hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254	.	.	ENSP00000429084	.	19/59	.	.	.	.	.	.	.	.	.	19/59	nonpreferredpair	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.759)	.	deleterious(0.01)	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,missense_variant,p.Gln780Glu,ENST00000520539,;UBR5,missense_variant,p.Gln780Glu,ENST00000220959,;UBR5,missense_variant,p.Gln774Glu,ENST00000521922,;	2945	169	336	SUCCESS
ADCY8	114	.	GRCh37	8	131949435	131949435	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	45	144	0	ENST00000286355.5:c.1365C>T	p.Cys455=	p.C455=	ENST00000286355	NM_001115.2	455	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS6363.1	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGGCAGTG	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000286355	.	5/18	.	.	.	.	.	.	.	.	.	5/18	nonpreferredpair	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000522949,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;RP11-737F9.1,intron_variant,,ENST00000523318,;	3458	144	205	SUCCESS
SLC45A4	57210	.	GRCh37	8	142231676	142231676	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1316871815	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	41	100	0	ENST00000024061.3:c.277G>A	p.Gly93Ser	p.G93S	ENST00000024061	NM_001080431.1	93	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS34948.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCGATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473	.	.	ENSP00000024061	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.07)	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,missense_variant,p.Gly93Ser,ENST00000024061,;SLC45A4,missense_variant,p.Gly86Ser,ENST00000433583,;SLC45A4,missense_variant,p.Gly144Ser,ENST00000517878,;SLC45A4,missense_variant,p.Gly93Ser,ENST00000519067,;SLC45A4,missense_variant,p.Gly75Ser,ENST00000519986,;SLC45A4,splice_region_variant,,ENST00000520137,;	585	101	208	SUCCESS
MTAP	4507	.	GRCh37	9	21838002	21838002	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368718537	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	54	111	0	ENST00000380172.4:c.443C>T	p.Thr148Met	p.T148M	ENST00000380172	NM_002451.3	148	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS6509.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAACGAGAG	NONE	byFrequency|byCluster	.	HAMAP:MF_01963,hmmpanther:PTHR11904:SF1,hmmpanther:PTHR11904,Gene3D:3.40.50.1580,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01694,Superfamily_domains:SSF53167	.	.	ENSP00000369519	.	5/8	.	.	.	.	.	.	.	.	rs368718537	5/8	nonpreferredpair	ENST00000380172	Transcript	.	.	ENSG00000099810	7413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.03)	.	MTAP_HUMAN	MTAP	HGNC	.	.	UPI0000110BBE	SNV	MTAP,missense_variant,p.Thr148Met,ENST00000580900,;MTAP,missense_variant,p.Thr148Met,ENST00000380172,;MTAP,missense_variant,p.Thr165Met,ENST00000460874,;MTAP,downstream_gene_variant,,ENST00000427788,;MTAP,missense_variant,p.Thr148Met,ENST00000580718,;MTAP,3_prime_UTR_variant,,ENST00000419385,;RP11-145E5.5,intron_variant,,ENST00000404796,;	649	111	134	SUCCESS
PHF2	5253	.	GRCh37	9	96435949	96435949	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	78	85	0	ENST00000359246.4:c.2431C>T	p.Leu811=	p.L811=	ENST00000359246	NM_005392.3	811	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35069.1	2431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCTGCAG	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14	.	.	ENSP00000352185	.	18/22	.	.	.	.	.	.	.	.	.	18/22	nonpreferredpair	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,synonymous_variant,p.%3D,ENST00000359246,;PHF2,intron_variant,,ENST00000375376,;	2798	85	223	SUCCESS
IRS4	8471	.	GRCh37	X	107979138	107979138	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	69	0	ENST00000372129.2:c.437G>A	p.Arg146His	p.R146H	ENST00000372129	NM_003604.2	146	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14544.1	437	RADIA|MUTECT|MUSE|VARSCANS	.	TCACGCGCCGC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,PROSITE_profiles:PS50003	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Arg146His,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	514	69	90	SUCCESS
PLXNB3	5365	.	GRCh37	X	153034490	153034490	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	9	114	0	ENST00000361971.5:c.1354G>A	p.Asp452Asn	p.D452N	ENST00000361971	NM_005393.2	452	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55536.1	1423	MUTECT|MUSE	.	TGCTGGACAGC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000442736	.	6/37	.	.	.	.	.	.	.	.	.	6/37	nonpreferredpair	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.386)	.	deleterious(0.04)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Asp105Asn,ENST00000538776,;PLXNB3,missense_variant,p.Asp475Asn,ENST00000538966,;PLXNB3,missense_variant,p.Asp452Asn,ENST00000361971,;PLXNB3,intron_variant,,ENST00000538543,;PLXNB3,intron_variant,,ENST00000538282,;U52111.14,upstream_gene_variant,,ENST00000416854,;U52111.14,upstream_gene_variant,,ENST00000434284,;	1694	114	170	SUCCESS
RGN	9104	.	GRCh37	X	46940676	46940676	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	7	154	0	ENST00000336169.3:c.133T>A	p.Phe45Ile	p.F45I	ENST00000336169		45	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS14272.1	133	MUTECT|MUSE	.	ATTCATTCACC	NONE	.	.	Superfamily_domains:SSF63829,Pfam_domain:PF08450,Gene3D:2.120.10.30,hmmpanther:PTHR10907,hmmpanther:PTHR10907:SF52	.	.	ENSP00000380365	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000397180	Transcript	.	.	ENSG00000130988	9989	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.4)	.	RGN_HUMAN	RGN	HGNC	.	.	UPI0000135A59	SNV	RGN,missense_variant,p.Phe45Ile,ENST00000352078,;RGN,missense_variant,p.Phe45Ile,ENST00000336169,;RGN,missense_variant,p.Phe45Ile,ENST00000457380,;RGN,missense_variant,p.Phe45Ile,ENST00000397180,;RGN,non_coding_transcript_exon_variant,,ENST00000469346,;RGN,upstream_gene_variant,,ENST00000475448,;	1102	154	202	SUCCESS
PFKFB1	5207	.	GRCh37	X	54978366	54978366	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	61	176	1	ENST00000375006.3:c.818A>C	p.Asp273Ala	p.D273A	ENST00000375006	NM_001271804.1	273	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS14364.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTCACCT	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF53254,Prints_domain:PR00991	.	.	ENSP00000364145	.	8/14	.	.	.	.	.	.	.	.	.	8/14	nonpreferredpair	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Asp208Ala,ENST00000545676,;PFKFB1,missense_variant,p.Asp273Ala,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	889	177	218	SUCCESS
NLGN4X	57502	.	GRCh37	X	5821238	5821238	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765308242	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	431	124	401	0	ENST00000275857.6:c.1481C>A	p.Pro494His	p.P494H	ENST00000275857	NM_020742.2	494	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS14126.1	1481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGGGGACC	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	5/6	.	.	.	.	.	.	.	.	rs765308242,COSM1468817	5/6	nonpreferredpair	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Pro494His,ENST00000381092,;NLGN4X,missense_variant,p.Pro494His,ENST00000381095,;NLGN4X,missense_variant,p.Pro514His,ENST00000381093,;NLGN4X,missense_variant,p.Pro494His,ENST00000538097,;NLGN4X,missense_variant,p.Pro494His,ENST00000275857,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000477079,;	2109	401	555	SUCCESS
PNLIPRP1	5407	.	GRCh37	10	118351933	118351933	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	83	0	ENST00000358834.4:c.210C>T	p.Leu70=	p.L70=	ENST00000358834	NM_006229.2	70	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7595.1	210	MUTECT|MUSE	.	ATTCTCCTCCT	NONE	.	.	hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000433933	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000528052	Transcript	.	.	ENSG00000187021	9156	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPR1_HUMAN	PNLIPRP1	HGNC	E9PR20_HUMAN,E9PMA6_HUMAN	.	UPI000012E6AA	SNV	PNLIPRP1,synonymous_variant,p.%3D,ENST00000534537,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000471549,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000531984,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000358834,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000528052,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000527980,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000530319,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000442761,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525157,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000480870,;PNLIPRP1,upstream_gene_variant,,ENST00000510125,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000470678,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000482159,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,upstream_gene_variant,,ENST00000482833,;PNLIPRP1,downstream_gene_variant,,ENST00000530626,;	281	83	65	SUCCESS
PCDH15	65217	.	GRCh37	10	55591092	55591092	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	154	0	ENST00000320301.6:c.4185T>C	p.Val1395=	p.V1395=	ENST00000320301	NM_033056.3	1395	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44404.1	4185	RADIA|MUTECT|MUSE	.	ACCAAAACCAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000354950	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000409834,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395438,;PCDH15,synonymous_variant,p.%3D,ENST00000414778,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,synonymous_variant,p.%3D,ENST00000373965,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;	4580	154	104	SUCCESS
RTKN2	219790	.	GRCh37	10	64022532	64022532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	71	1	ENST00000373789.3:c.109G>A	p.Gly37Arg	p.G37R	ENST00000373789	NM_145307.2	37	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS7263.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCCTTCTC	NONE	.	.	SMART_domains:SM00742,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF21	.	.	ENSP00000362894	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,missense_variant,p.Gly37Arg,ENST00000373789,;RTKN2,missense_variant,p.Gly37Arg,ENST00000395265,;RTKN2,missense_variant,p.Gly37Arg,ENST00000395260,;	206	72	38	SUCCESS
RBP4	5950	.	GRCh37	10	95360550	95360550	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367834906	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	30	271	0	ENST00000371464.3:c.122C>T	p.Thr41Ile	p.T41I	ENST00000371464	NM_006744.3	41	aCc/aTc	0	A:0.0002	.	.	.	.	A	T/I	protein_coding	YES	CCDS31249.1	122	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTCCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11873,hmmpanther:PTHR11873:SF2,PROSITE_patterns:PS00213,Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036893,PIRSF_domain:PIRSF500204,Superfamily_domains:SSF50814,Prints_domain:PR01174,Prints_domain:PR00179	.	A:0	ENSP00000360522	.	3/6	.	.	.	.	.	.	.	.	rs367834906	3/6	PASS	ENST00000371467	Transcript	1	.	ENSG00000138207	9922	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.16)	.	RET4_HUMAN	RBP4	HGNC	.	.	UPI0000044958	SNV	RBP4,missense_variant,p.Thr41Ile,ENST00000371464,;RBP4,missense_variant,p.Thr39Ile,ENST00000371469,;RBP4,missense_variant,p.Thr41Ile,ENST00000371467,;FFAR4,intron_variant,,ENST00000604414,;	442	271	184	SUCCESS
OR5M8	219484	.	GRCh37	11	56258001	56258001	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	43	0	ENST00000327216.2:c.846T>A	p.Pro282=	p.P282=	ENST00000327216	NM_001005282.1	282	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31533.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATAGGGAT	NONE	.	.	Prints_domain:PR00245,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF146,hmmpanther:PTHR26452,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000323354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327216	Transcript	.	.	ENSG00000181371	14846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5M8_HUMAN	OR5M8	HGNC	.	.	UPI00000405CC	SNV	OR5M8,synonymous_variant,p.%3D,ENST00000327216,;	871	43	41	SUCCESS
UBXN1	51035	.	GRCh37	11	62445539	62445539	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	80	0	ENST00000301935.5:c.342del	p.Glu114AspfsTer45	p.E114Dfs*45	ENST00000301935	NM_001286077.1	114	gaA/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS8029.1	342	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCCGTTCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13020	.	.	ENSP00000294119	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000294119	Transcript	.	.	ENSG00000162191	18402	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBXN1_HUMAN	UBXN1	HGNC	.	.	UPI000006DE59	deletion	UBXN1,frameshift_variant,p.Glu114AspfsTer45,ENST00000294119,;UBXN1,frameshift_variant,p.Glu114AspfsTer45,ENST00000301935,;UBXN1,frameshift_variant,p.Glu114AspfsTer45,ENST00000534176,;UBXN1,frameshift_variant,p.Glu114AspfsTer109,ENST00000529640,;C11orf83,downstream_gene_variant,,ENST00000531323,;C11orf83,downstream_gene_variant,,ENST00000377953,;UBXN1,upstream_gene_variant,,ENST00000533000,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525004,;UBXN1,non_coding_transcript_exon_variant,,ENST00000524762,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000528907,;UBXN1,non_coding_transcript_exon_variant,,ENST00000527421,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525717,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533908,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000526919,;UBXN1,downstream_gene_variant,,ENST00000531625,;UBXN1,downstream_gene_variant,,ENST00000531056,;UBXN1,downstream_gene_variant,,ENST00000436354,;	474	80	80	SUCCESS
CTTN	2017	.	GRCh37	11	70269063	70269063	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1022387444	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	125	378	0	ENST00000301843.8:c.919G>A	p.Gly307Ser	p.G307S	ENST00000301843	NM_005231.3	307	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS53676.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCGGCGGG	NONE	.	.	PROSITE_profiles:PS51090,hmmpanther:PTHR10829:SF15,hmmpanther:PTHR10829,Pfam_domain:PF02218	.	.	ENSP00000365745	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000376561	Transcript	.	.	ENSG00000085733	3338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	SRC8_HUMAN	CTTN	HGNC	E9PP90_HUMAN,E9PKG3_HUMAN,B4E358_HUMAN	.	UPI000006E3C2	SNV	CTTN,missense_variant,p.Gly270Ser,ENST00000376561,;CTTN,missense_variant,p.Gly307Ser,ENST00000301843,;CTTN,missense_variant,p.Gly270Ser,ENST00000346329,;CTTN,5_prime_UTR_variant,,ENST00000498223,;CTTN,5_prime_UTR_variant,,ENST00000538675,;CTTN,5_prime_UTR_variant,,ENST00000527962,;CTTN,downstream_gene_variant,,ENST00000415461,;CTTN,synonymous_variant,p.%3D,ENST00000393747,;CTTN,non_coding_transcript_exon_variant,,ENST00000525852,;CTTN,downstream_gene_variant,,ENST00000483662,;CTTN,downstream_gene_variant,,ENST00000532334,;	979	378	321	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73020363	73020363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	48	162	0	ENST00000263674.3:c.680C>A	p.Ala227Asp	p.A227D	ENST00000263674	NM_014786.3	227	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS8221.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCCCGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	tolerated_low_confidence(0.08)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Ala227Asp,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,non_coding_transcript_exon_variant,,ENST00000546324,;	1030	162	122	SUCCESS
STAB2	55576	.	GRCh37	12	104136328	104136328	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	10	220	1	ENST00000388887.2:c.6027T>A	p.Cys2009Ter	p.C2009*	ENST00000388887	NM_017564.9	2009	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS31888.1	6027	MUTECT|MUSE	.	GATTGTCTGCG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01248,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00180	.	.	ENSP00000373539	.	56/69	.	.	.	.	.	.	.	.	.	56/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,stop_gained,p.Cys2009Ter,ENST00000388887,;RP11-341G23.4,downstream_gene_variant,,ENST00000551299,;	6231	221	173	SUCCESS
TMPO	7112	.	GRCh37	12	98909627	98909627	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs774144418	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	6	128	0	ENST00000266732.4:c.-19G>A		p.*7*	ENST00000266732	NM_003276.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9064.1	.	MUTECT|MUSE	.	GAGGGGGCTTC	NONE	.	.	.	.	.	ENSP00000266732	.	1/4	.	.	.	.	.	.	.	.	rs774144418	1/4	PASS	ENST00000266732	Transcript	.	.	ENSG00000120802	11875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAP2A_HUMAN	TMPO	HGNC	.	.	UPI000013D709	SNV	TMPO,5_prime_UTR_variant,,ENST00000393053,;TMPO,5_prime_UTR_variant,,ENST00000556029,;TMPO,5_prime_UTR_variant,,ENST00000343315,;TMPO,5_prime_UTR_variant,,ENST00000266732,;TMPO,upstream_gene_variant,,ENST00000261210,;TMPO-AS1,non_coding_transcript_exon_variant,,ENST00000546421,;TMPO-AS1,non_coding_transcript_exon_variant,,ENST00000548760,;TMPO,intron_variant,,ENST00000548911,;TMPO,intron_variant,,ENST00000546828,;TMPO,upstream_gene_variant,,ENST00000549938,;	220	128	110	SUCCESS
METTL21C	196541	.	GRCh37	13	103343267	103343267	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	180	0	ENST00000267273.6:c.178C>A	p.Pro60Thr	p.P60T	ENST00000267273	NM_001010977.2	60	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32003.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGAACAA	NONE	.	.	hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614	.	.	ENSP00000267273	.	2/4	.	.	.	.	.	.	.	.	COSM378187	2/4	PASS	ENST00000267273	Transcript	.	.	ENSG00000139780	33717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.874)	.	deleterious(0)	1	MT21C_HUMAN	METTL21C	HGNC	.	.	UPI000016196F	SNV	METTL21C,missense_variant,p.Pro60Thr,ENST00000267273,;	184	180	111	SUCCESS
FREM2	341640	.	GRCh37	13	39264849	39264849	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	61	0	ENST00000280481.7:c.3368G>A	p.Gly1123Asp	p.G1123D	ENST00000280481	NM_207361.4	1123	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31960.1	3368	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGCTCTG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Gly1123Asp,ENST00000280481,;	3584	61	47	SUCCESS
PIBF1	10464	.	GRCh37	13	73468073	73468073	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	134	0	ENST00000326291.6:c.1474C>A	p.Gln492Lys	p.Q492K	ENST00000326291	NM_006346.2	492	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31991.1	1474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATCAGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18950:SF0,hmmpanther:PTHR18950	.	.	ENSP00000317144	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000326291	Transcript	.	.	ENSG00000083535	23352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.05)	.	PIBF1_HUMAN	PIBF1	HGNC	.	.	UPI00001418B9	SNV	PIBF1,missense_variant,p.Gln492Lys,ENST00000326291,;PIBF1,downstream_gene_variant,,ENST00000486330,;	1812	134	101	SUCCESS
LRR1	122769	.	GRCh37	14	50074175	50074175	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1265822801	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	58	0	ENST00000298288.6:c.340T>A	p.Cys114Ser	p.C114S	ENST00000298288	NM_152329.3	114	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS9686.1	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGTAAT	NONE	.	.	Superfamily_domains:SSF52058	.	.	ENSP00000298288	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000298288	Transcript	.	.	ENSG00000165501	19742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.74)	.	LLR1_HUMAN	LRR1	HGNC	.	.	UPI000013E4BC	SNV	LRR1,missense_variant,p.Cys114Ser,ENST00000298288,;LRR1,intron_variant,,ENST00000318317,;LRR1,non_coding_transcript_exon_variant,,ENST00000557531,;LRR1,3_prime_UTR_variant,,ENST00000540712,;LRR1,3_prime_UTR_variant,,ENST00000554869,;	664	58	57	SUCCESS
SPTB	6710	.	GRCh37	14	65252575	65252575	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs368552247	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	64	0	ENST00000389721.5:c.3656A>G	p.Asn1219Ser	p.N1219S	ENST00000389721	NM_000347.5	1219	aAc/aGc	0	C:0.0002	.	.	.	.	C	N/S	protein_coding	YES	CCDS32099.1	3656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGTTCTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002297	.	C:0	ENSP00000374372	.	16/35	.	.	.	.	.	.	.	.	rs368552247	16/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,missense_variant,p.Asn1219Ser,ENST00000389721,;SPTB,missense_variant,p.Asn1219Ser,ENST00000556626,;SPTB,missense_variant,p.Asn1219Ser,ENST00000389722,;SPTB,missense_variant,p.Asn1219Ser,ENST00000542895,;SPTB,missense_variant,p.Asn1219Ser,ENST00000389720,;SPTB,upstream_gene_variant,,ENST00000553938,;	3710	64	50	SUCCESS
VSX2	338917	.	GRCh37	14	74706315	74706315	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	80	0	ENST00000261980.2:c.51G>A	p.Val17=	p.V17=	ENST00000261980	NM_182894.2	17	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9827.1	51	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGGCCAA	NONE	.	.	.	.	.	ENSP00000261980	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000261980	Transcript	.	.	ENSG00000119614	1975	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VSX2_HUMAN	VSX2	HGNC	.	.	UPI0000128755	SNV	VSX2,synonymous_variant,p.%3D,ENST00000261980,;	141	80	60	SUCCESS
MGA	23269	.	GRCh37	15	41988802	41988802	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	64	0	ENST00000219905.7:c.1594A>T	p.Lys532Ter	p.K532*	ENST00000219905	NM_001164273.1	532	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS55959.1	1594	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAAAACAT	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,stop_gained,p.Lys532Ter,ENST00000219905,;MGA,stop_gained,p.Lys532Ter,ENST00000563576,;MGA,stop_gained,p.Lys532Ter,ENST00000570161,;MGA,stop_gained,p.Lys532Ter,ENST00000545763,;MGA,stop_gained,p.Lys532Ter,ENST00000389936,;MGA,stop_gained,p.Lys532Ter,ENST00000566718,;MGA,stop_gained,p.Lys532Ter,ENST00000566586,;MIR626,downstream_gene_variant,,ENST00000385032,;MGA,downstream_gene_variant,,ENST00000568630,;	1775	64	73	SUCCESS
LDHAL6B	92483	.	GRCh37	15	59499173	59499173	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	113	0	ENST00000307144.4:c.34C>A	p.Gln12Lys	p.Q12K	ENST00000307144	NM_033195.2	12	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS10171.1	34	RADIA|MUTECT|MUSE	.	CCAGCCAGAGA	NONE	.	.	.	.	.	ENSP00000302393	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307144	Transcript	.	.	ENSG00000171989	21481	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated_low_confidence(0.62)	.	LDH6B_HUMAN	LDHAL6B	HGNC	.	.	UPI000012E326	SNV	LDHAL6B,missense_variant,p.Gln12Lys,ENST00000307144,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,intron_variant,,ENST00000560749,;MYO1E,intron_variant,,ENST00000288235,;MYO1E,downstream_gene_variant,,ENST00000559489,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,intron_variant,,ENST00000560642,;	132	113	99	SUCCESS
NTRK3	4916	.	GRCh37	15	88423567	88423567	+	synonymous_variant	Silent	SNP	G	G	A	rs79813886	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	33	108	0	ENST00000360948.2:c.2268C>T	p.Phe756=	p.F756=	ENST00000360948	NM_001012338.2	756	ttC/ttT	0	A:0	A:0	.	A:0	.	A	F	protein_coding	YES	CCDS32322.1	2268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGAAGCT	NONE	byFrequency|byCluster|by1000G	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	A:0.001	A:0.0001	ENSP00000354207	A:0	18/19	.	.	.	.	.	.	.	.	rs79813886,COSM390501,COSM390500	18/19	PASS	ENST00000360948	Transcript	1	A:0.0004	ENSG00000140538	8033	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0.001	.	0,1,1	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,synonymous_variant,p.%3D,ENST00000357724,;NTRK3,synonymous_variant,p.%3D,ENST00000557856,;NTRK3,synonymous_variant,p.%3D,ENST00000394480,;NTRK3,synonymous_variant,p.%3D,ENST00000355254,;NTRK3,synonymous_variant,p.%3D,ENST00000360948,;	2430	108	71	SUCCESS
MYH11	4629	.	GRCh37	16	15853534	15853534	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375276152	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	180	1	ENST00000300036.5:c.1300C>T	p.Arg434Cys	p.R434C	ENST00000300036	NM_002474.2	434	Cgc/Tgc	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS45423.1	1321	MUTECT|MUSE	.	CCAGCGGAAAA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	A:0	ENSP00000379616	.	13/42	.	.	.	.	.	.	.	.	rs375276152	13/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,missense_variant,p.Arg441Cys,ENST00000452625,;MYH11,missense_variant,p.Arg434Cys,ENST00000576790,;MYH11,missense_variant,p.Arg434Cys,ENST00000300036,;MYH11,missense_variant,p.Arg441Cys,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	1409	181	161	SUCCESS
ATXN2L	11273	.	GRCh37	16	28846465	28846465	+	synonymous_variant	Silent	SNP	T	T	A	rs750802207	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	140	0	ENST00000336783.4:c.2520T>A	p.Pro840=	p.P840=	ENST00000336783	NM_007245.3	840	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10640.1	2520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTCAGTA	NONE	.	.	hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8	.	.	ENSP00000378917	.	19/24	.	.	.	.	.	.	.	.	rs750802207	19/24	PASS	ENST00000395547	Transcript	.	.	ENSG00000168488	31326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATX2L_HUMAN	ATXN2L	HGNC	H3BSQ5_HUMAN	.	UPI000016783F	SNV	ATXN2L,synonymous_variant,p.%3D,ENST00000395547,;ATXN2L,synonymous_variant,p.%3D,ENST00000336783,;ATXN2L,synonymous_variant,p.%3D,ENST00000382686,;ATXN2L,synonymous_variant,p.%3D,ENST00000325215,;ATXN2L,synonymous_variant,p.%3D,ENST00000570200,;ATXN2L,synonymous_variant,p.%3D,ENST00000569318,;ATXN2L,synonymous_variant,p.%3D,ENST00000564304,;ATXN2L,synonymous_variant,p.%3D,ENST00000566946,;ATXN2L,synonymous_variant,p.%3D,ENST00000340394,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000567024,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,synonymous_variant,p.%3D,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000561732,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000562686,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000564035,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000564284,;	2687	140	101	SUCCESS
HIRIP3	8479	.	GRCh37	16	30005727	30005728	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	62	0	ENST00000279392.3:c.738dup	p.Glu247ArgfsTer6	p.E247Rfs*6	ENST00000279392	NM_003609.4	246	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS10664.1	738-739	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTCTTCCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15410,hmmpanther:PTHR15410:SF2	.	.	ENSP00000279392	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000279392	Transcript	.	.	ENSG00000149929	4917	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HIRP3_HUMAN	HIRIP3	HGNC	B3KQL0_HUMAN	.	UPI000013DBC9	insertion	HIRIP3,frameshift_variant,p.Glu247ArgfsTer6,ENST00000279392,;HIRIP3,intron_variant,,ENST00000564026,;INO80E,upstream_gene_variant,,ENST00000563197,;TAOK2,downstream_gene_variant,,ENST00000279394,;INO80E,upstream_gene_variant,,ENST00000567254,;INO80E,upstream_gene_variant,,ENST00000304516,;INO80E,upstream_gene_variant,,ENST00000567705,;HIRIP3,downstream_gene_variant,,ENST00000566471,;INO80E,upstream_gene_variant,,ENST00000563040,;HIRIP3,intron_variant,,ENST00000563680,;HIRIP3,intron_variant,,ENST00000563053,;INO80E,upstream_gene_variant,,ENST00000567987,;INO80E,upstream_gene_variant,,ENST00000568043,;HIRIP3,downstream_gene_variant,,ENST00000568880,;INO80E,upstream_gene_variant,,ENST00000540562,;TAOK2,downstream_gene_variant,,ENST00000570844,;INO80E,upstream_gene_variant,,ENST00000569957,;INO80E,upstream_gene_variant,,ENST00000567065,;INO80E,upstream_gene_variant,,ENST00000380503,;HIRIP3,downstream_gene_variant,,ENST00000565996,;INO80E,upstream_gene_variant,,ENST00000562441,;	1569-1570	62	67	SUCCESS
OR1F1	4992	.	GRCh37	16	3254987	3254987	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	197	0	ENST00000304646.2:c.741G>A	p.Val247=	p.V247=	ENST00000304646	NM_012360.1	247	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10496.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGGTTCT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF304,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000305424	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304646	Transcript	.	.	ENSG00000168124	8194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1F1_HUMAN	OR1F1	HGNC	.	.	UPI00000015B4	SNV	OR1F1,synonymous_variant,p.%3D,ENST00000304646,;AJ003147.9,intron_variant,,ENST00000576468,;	741	197	146	SUCCESS
SIAH1	6477	.	GRCh37	16	48396330	48396330	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	64	219	0	ENST00000380006.2:c.10C>T	p.Gln4Ter	p.Q4*	ENST00000380006		4	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS32444.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGACGGC	NONE	.	.	hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23	.	.	ENSP00000349156	.	2/2	.	.	.	.	.	.	.	.	COSM435307,COSM435306	2/2	PASS	ENST00000356721	Transcript	.	.	ENSG00000196470	10857	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SIAH1_HUMAN	SIAH1	HGNC	H3BU09_HUMAN	.	UPI0000074729	SNV	SIAH1,stop_gained,p.Gln4Ter,ENST00000380006,;SIAH1,stop_gained,p.Gln4Ter,ENST00000394725,;SIAH1,stop_gained,p.Gln35Ter,ENST00000356721,;SIAH1,stop_gained,p.Gln4Ter,ENST00000563745,;LONP2,3_prime_UTR_variant,,ENST00000565867,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,downstream_gene_variant,,ENST00000573005,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,stop_gained,p.Gln4Ter,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,downstream_gene_variant,,ENST00000565185,;	527	219	169	SUCCESS
DOK4	55715	.	GRCh37	16	57507494	57507494	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	6	118	0	ENST00000340099.4:c.862+31G>C		p.*288*	ENST00000340099	NM_018110.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10783.1	.	MUTECT|MUSE	.	CCTGGCAGGTG	NONE	.	.	.	.	.	ENSP00000344277	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340099	Transcript	.	.	ENSG00000125170	19868	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOK4_HUMAN	DOK4	HGNC	H3BVB4_HUMAN,H3BV67_HUMAN,H3BTK2_HUMAN,H3BTI7_HUMAN,H3BTI4_HUMAN,H3BSK0_HUMAN,H3BS85_HUMAN,H3BPY9_HUMAN,H3BN90_HUMAN	.	UPI0000070AA4	SNV	DOK4,missense_variant,p.Cys298Ser,ENST00000566936,;DOK4,intron_variant,,ENST00000340099,;DOK4,intron_variant,,ENST00000569548,;POLR2C,downstream_gene_variant,,ENST00000219252,;DOK4,downstream_gene_variant,,ENST00000566588,;DOK4,downstream_gene_variant,,ENST00000564378,;DOK4,downstream_gene_variant,,ENST00000562737,;DOK4,downstream_gene_variant,,ENST00000567276,;DOK4,downstream_gene_variant,,ENST00000569010,;DOK4,downstream_gene_variant,,ENST00000569538,;DOK4,downstream_gene_variant,,ENST00000567175,;DOK4,downstream_gene_variant,,ENST00000562008,;DOK4,downstream_gene_variant,,ENST00000569250,;DOK4,downstream_gene_variant,,ENST00000568617,;DOK4,downstream_gene_variant,,ENST00000566705,;DOK4,downstream_gene_variant,,ENST00000567214,;DOK4,downstream_gene_variant,,ENST00000561918,;POLR2C,downstream_gene_variant,,ENST00000564651,;DOK4,downstream_gene_variant,,ENST00000563483,;POLR2C,downstream_gene_variant,,ENST00000563589,;POLR2C,downstream_gene_variant,,ENST00000563115,;DOK4,downstream_gene_variant,,ENST00000561659,;POLR2C,downstream_gene_variant,,ENST00000567982,;POLR2C,downstream_gene_variant,,ENST00000562953,;POLR2C,downstream_gene_variant,,ENST00000562599,;	.	118	112	SUCCESS
CDH1	999	.	GRCh37	16	68842624	68842624	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	67	0	ENST00000261769.5:c.560A>G	p.Lys187Arg	p.K187R	ENST00000261769	NM_004360.3	187	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS10869.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAAGGTTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261769	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.1)	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,missense_variant,p.Lys187Arg,ENST00000422392,;CDH1,missense_variant,p.Lys187Arg,ENST00000261769,;CDH1,non_coding_transcript_exon_variant,,ENST00000564676,;CDH1,non_coding_transcript_exon_variant,,ENST00000564745,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,missense_variant,p.Lys110Arg,ENST00000561751,;CDH1,missense_variant,p.Lys187Arg,ENST00000566612,;CDH1,non_coding_transcript_exon_variant,,ENST00000567320,;CDH1,intron_variant,,ENST00000566510,;CDH1,upstream_gene_variant,,ENST00000565810,;	751	67	51	SUCCESS
GRAP	10750	.	GRCh37	17	18945119	18945119	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1362470152	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	56	0	ENST00000284154.5:c.176+1G>A		p.X59_splice	ENST00000284154	NM_006613.3	59		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11202.1	.	RADIA|VARSCANS	.	ACTCACGGATG	NONE	.	.	.	.	.	ENSP00000284154	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000284154	Transcript	.	.	ENSG00000154016	4562	.	.	HIGH	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRAP_HUMAN	GRAP	HGNC	K7EKU7_HUMAN,A8MW78_HUMAN	.	UPI000012BA7E	SNV	GRAP,splice_donor_variant,,ENST00000395635,;GRAP,splice_donor_variant,,ENST00000573099,;GRAP,splice_donor_variant,,ENST00000284154,;GRAP,splice_donor_variant,,ENST00000571380,;GRAP,splice_donor_variant,,ENST00000583020,;	.	56	46	SUCCESS
KIAA0100	9703	.	GRCh37	17	26962490	26962490	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	7	295	0	ENST00000528896.2:c.2115A>G	p.Ala705=	p.A705=	ENST00000528896	NM_014680.3	705	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS32595.1	2115	MUTECT|MUSE	.	TCTAGTGCAAG	NONE	.	.	hmmpanther:PTHR15678	.	.	ENSP00000436773	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,synonymous_variant,p.%3D,ENST00000544884,;KIAA0100,synonymous_variant,p.%3D,ENST00000389003,;KIAA0100,synonymous_variant,p.%3D,ENST00000528896,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,non_coding_transcript_exon_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000579253,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,downstream_gene_variant,,ENST00000581267,;	2190	295	246	SUCCESS
NF1	4763	.	GRCh37	17	29665760	29665760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	319	13	406	0	ENST00000358273.4:c.6858C>A	p.Asn2286Lys	p.N2286K	ENST00000358273	NM_001042492.2	2286	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS42292.1	6858	MUTECT|MUSE	.	TACAACAGTCA	BUFFER|p.Y2285fs*5|c.6852_6855delTTAC|5	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	46/58	.	.	.	.	.	.	.	.	.	46/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Asn79Lys,ENST00000444181,;NF1,missense_variant,p.Asn2286Lys,ENST00000358273,;NF1,missense_variant,p.Asn1931Lys,ENST00000456735,;NF1,missense_variant,p.Asn2265Lys,ENST00000356175,;NF1,intron_variant,,ENST00000417592,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,missense_variant,p.Asn81Lys,ENST00000471572,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000584328,;NF1,intron_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000582892,;	7241	406	332	SUCCESS
GAS2L2	246176	.	GRCh37	17	34079749	34079749	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782798675	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	13	198	0	ENST00000254466.6:c.121T>A	p.Trp41Arg	p.W41R	ENST00000254466	NM_139285.3	41	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS11298.1	121	MUTECT|MUSE	.	AAGCCACTCAG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000254466	.	1/6	.	.	.	.	.	.	.	.	rs782798675	1/6	PASS	ENST00000254466	Transcript	.	.	ENSG00000132139	24846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GA2L2_HUMAN	GAS2L2	HGNC	.	.	UPI0000061E50	SNV	GAS2L2,missense_variant,p.Trp41Arg,ENST00000587565,;GAS2L2,missense_variant,p.Trp41Arg,ENST00000254466,;MMP28,downstream_gene_variant,,ENST00000587687,;RP1-161P9.5,downstream_gene_variant,,ENST00000591202,;MMP28,downstream_gene_variant,,ENST00000587639,;	149	198	168	SUCCESS
MLLT6	4302	.	GRCh37	17	36876674	36876674	+	synonymous_variant	Silent	SNP	G	G	A	rs747291965	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	99	0	ENST00000325718.7:c.2205G>A	p.Arg735=	p.R735=	ENST00000325718	NM_005937.3	735	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11327.1	2205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCTGCA	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF82,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000316426	.	15/20	.	.	.	.	.	.	.	.	rs747291965	15/20	PASS	ENST00000325718	Transcript	.	.	ENSG00000108292	7138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF17_HUMAN	MLLT6	HGNC	.	.	UPI000013C86A	SNV	MLLT6,synonymous_variant,p.%3D,ENST00000325718,;MLLT6,synonymous_variant,p.%3D,ENST00000471200,;MIR4726,downstream_gene_variant,,ENST00000577947,;CTB-58E17.9,upstream_gene_variant,,ENST00000579499,;MLLT6,non_coding_transcript_exon_variant,,ENST00000494578,;MLLT6,downstream_gene_variant,,ENST00000466997,;MLLT6,downstream_gene_variant,,ENST00000578946,;MLLT6,upstream_gene_variant,,ENST00000484263,;MLLT6,downstream_gene_variant,,ENST00000433891,;	2296	99	103	SUCCESS
KRT39	390792	.	GRCh37	17	39116562	39116562	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	52	0	ENST00000355612.2:c.1188C>T	p.Tyr396=	p.Y396=	ENST00000355612	NM_213656.3	396	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11382.1	1188	MUTECT|MUSE	.	CTGCGGTATGT	BUFFER|p.R397C|c.1189C>T|3	.	.	hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239,PROSITE_patterns:PS00226,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000347823	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000355612	Transcript	.	.	ENSG00000196859	32971	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1C39_HUMAN	KRT39	HGNC	J3QRE9_HUMAN	.	UPI0000237913	SNV	KRT39,synonymous_variant,p.%3D,ENST00000355612,;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,non_coding_transcript_exon_variant,,ENST00000578029,;	1224	52	33	SUCCESS
MAPT	4137	.	GRCh37	17	44060964	44060964	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	90	0	ENST00000262410.5:c.794T>A	p.Ile265Asn	p.I265N	ENST00000262410	NM_016835.4	265	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS45715.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATCCCCC	NONE	.	.	hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF14	.	.	ENSP00000340820	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000344290	Transcript	.	.	ENSG00000186868	6893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	deleterious(0.04)	.	TAU_HUMAN	MAPT	HGNC	.	.	UPI0001AE66E9	SNV	MAPT,missense_variant,p.Ile265Asn,ENST00000262410,;MAPT,missense_variant,p.Ile265Asn,ENST00000571987,;MAPT,missense_variant,p.Ile265Asn,ENST00000415613,;MAPT,missense_variant,p.Ile265Asn,ENST00000344290,;MAPT,intron_variant,,ENST00000334239,;MAPT,intron_variant,,ENST00000340799,;MAPT,intron_variant,,ENST00000446361,;MAPT,intron_variant,,ENST00000574436,;MAPT,intron_variant,,ENST00000535772,;MAPT,intron_variant,,ENST00000576518,;MAPT,intron_variant,,ENST00000420682,;MAPT,intron_variant,,ENST00000351559,;MAPT,intron_variant,,ENST00000347967,;MAPT,intron_variant,,ENST00000431008,;MAPT,intron_variant,,ENST00000570299,;MAPT,upstream_gene_variant,,ENST00000577017,;MAPT,non_coding_transcript_exon_variant,,ENST00000576238,;MAPT,downstream_gene_variant,,ENST00000572440,;	1116	90	71	SUCCESS
CDK3	1018	.	GRCh37	17	73998495	73998495	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	77	0	ENST00000425876.2:c.482A>G	p.His161Arg	p.H161R	ENST00000425876		161	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS11736.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCATGAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF173,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000410561	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000425876	Transcript	.	.	ENSG00000250506	1772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	CDK3_HUMAN	CDK3	HGNC	K7ELV5_HUMAN,K7EJ83_HUMAN	.	UPI0000113587	SNV	CDK3,missense_variant,p.His161Arg,ENST00000448471,;CDK3,missense_variant,p.His161Arg,ENST00000588812,;CDK3,missense_variant,p.His161Arg,ENST00000425876,;CDK3,missense_variant,p.His121Arg,ENST00000586261,;EVPL,downstream_gene_variant,,ENST00000589231,;EVPL,downstream_gene_variant,,ENST00000586740,;TEN1,downstream_gene_variant,,ENST00000588202,;EVPL,downstream_gene_variant,,ENST00000301607,;TEN1,downstream_gene_variant,,ENST00000416485,;TEN1,downstream_gene_variant,,ENST00000397640,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000587569,;	570	77	57	SUCCESS
SLC14A2	8170	.	GRCh37	18	43253729	43253729	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	5	143	1	ENST00000255226.6:c.2459G>A	p.Gly820Glu	p.G820E	ENST00000255226	NM_007163.3	820	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS11924.1	2459	MUTECT|MUSE	.	GATAGGAGGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2,Gene3D:1.10.3430.10,Pfam_domain:PF03253	.	.	ENSP00000255226	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000255226	Transcript	.	.	ENSG00000132874	10919	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UT2_HUMAN	SLC14A2	HGNC	.	.	UPI000013CE99	SNV	SLC14A2,missense_variant,p.Gly297Glu,ENST00000589658,;SLC14A2,missense_variant,p.Gly820Glu,ENST00000255226,;SLC14A2,missense_variant,p.Gly820Glu,ENST00000586448,;RP11-116O18.3,intron_variant,,ENST00000589510,;	3275	144	122	SUCCESS
ELAC1	55520	.	GRCh37	18	48510804	48510804	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	44	135	0	ENST00000269466.3:c.496C>A	p.Leu166Ile	p.L166I	ENST00000269466	NM_018696.2	166	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS11949.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACCTTCTG	NONE	.	.	HAMAP:MF_01818,hmmpanther:PTHR12553,Pfam_domain:PF12706,TIGRFAM_domain:TIGR02651,Gene3D:3.60.15.10	.	.	ENSP00000269466	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000269466	Transcript	.	.	ENSG00000141642	14197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.4)	.	RNZ1_HUMAN	ELAC1	HGNC	.	.	UPI000006F39C	SNV	ELAC1,missense_variant,p.Leu166Ile,ENST00000591429,;ELAC1,missense_variant,p.Leu166Ile,ENST00000269466,;SMAD4,intron_variant,,ENST00000452201,;ELAC1,intron_variant,,ENST00000588577,;RP11-729L2.2,intron_variant,,ENST00000588256,;RP11-729L2.2,intron_variant,,ENST00000590722,;	603	135	88	SUCCESS
SERPINB8	5271	.	GRCh37	18	61653503	61653503	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	56	0	ENST00000353706.2:c.721-605G>T		p.*241*	ENST00000353706	NM_002640.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11991.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGATCTT	NONE	.	.	.	.	.	ENSP00000381072	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397985	Transcript	.	.	ENSG00000166401	8952	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPB8_HUMAN	SERPINB8	HGNC	C9JVA8_HUMAN,C9JTJ8_HUMAN,B4DTW2_HUMAN	.	UPI000013C5F2	SNV	SERPINB8,3_prime_UTR_variant,,ENST00000397988,;SERPINB8,intron_variant,,ENST00000353706,;SERPINB8,intron_variant,,ENST00000397985,;SERPINB8,intron_variant,,ENST00000542677,;SERPINB8,intron_variant,,ENST00000295211,;SERPINB8,downstream_gene_variant,,ENST00000448851,;SERPINB8,downstream_gene_variant,,ENST00000441827,;SERPINB8,intron_variant,,ENST00000493661,;HMSD,downstream_gene_variant,,ENST00000481726,;	.	56	45	SUCCESS
RASGRP4	115727	.	GRCh37	19	38912649	38912649	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	74	0	ENST00000587738.1:c.168C>T	p.Cys56=	p.C56=	ENST00000587738		56	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46068.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTGCAGCC	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113:SF157,hmmpanther:PTHR23113	.	.	ENSP00000465772	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,synonymous_variant,p.%3D,ENST00000454404,;RASGRP4,synonymous_variant,p.%3D,ENST00000426920,;RASGRP4,synonymous_variant,p.%3D,ENST00000586305,;RASGRP4,synonymous_variant,p.%3D,ENST00000293062,;RASGRP4,synonymous_variant,p.%3D,ENST00000587738,;RASGRP4,synonymous_variant,p.%3D,ENST00000587753,;RASGRP4,synonymous_variant,p.%3D,ENST00000433821,;RASGRP4,synonymous_variant,p.%3D,ENST00000589474,;RASGRP4,synonymous_variant,p.%3D,ENST00000589358,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,upstream_gene_variant,,ENST00000588708,;	239	74	74	SUCCESS
ZNF226	7769	.	GRCh37	19	44676265	44676265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	157	0	ENST00000337433.5:c.40G>T	p.Ala14Ser	p.A14S	ENST00000337433	NM_001032373.1	14	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46102.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGGCTGTG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000465121	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,missense_variant,p.Ala14Ser,ENST00000585560,;ZNF226,missense_variant,p.Ala14Ser,ENST00000586286,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590089,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588127,;ZNF226,missense_variant,p.Ala14Ser,ENST00000413984,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588742,;ZNF226,missense_variant,p.Ala14Ser,ENST00000589160,;ZNF226,missense_variant,p.Ala14Ser,ENST00000300823,;ZNF226,missense_variant,p.Ala14Ser,ENST00000337433,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590524,;ZNF226,missense_variant,p.Ala14Ser,ENST00000586203,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588883,;ZNF226,missense_variant,p.Ala14Ser,ENST00000586914,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590467,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588795,;ZNF226,missense_variant,p.Ala14Ser,ENST00000454662,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590578,;ZNF226,5_prime_UTR_variant,,ENST00000585678,;ZNF226,non_coding_transcript_exon_variant,,ENST00000590759,;	407	157	123	SUCCESS
NR1H2	7376	.	GRCh37	19	50881836	50881836	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs774586646	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	82	0	ENST00000253727.5:c.530C>A	p.Ser177Ter	p.S177*	ENST00000253727	NM_007121.5	177	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS42593.1	530	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCACAGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Gene3D:1.10.565.10,hmmpanther:PTHR24082:SF110,hmmpanther:PTHR24082	.	.	ENSP00000253727	.	6/10	.	.	.	.	.	.	.	.	rs774586646	6/10	PASS	ENST00000253727	Transcript	.	.	ENSG00000131408	7965	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NR1H2_HUMAN	NR1H2	HGNC	M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN	.	UPI000013CDEE	SNV	NR1H2,stop_gained,p.Ser177Ter,ENST00000253727,;NR1H2,stop_gained,p.Ser80Ter,ENST00000411902,;NR1H2,stop_gained,p.Ser177Ter,ENST00000597130,;NR1H2,stop_gained,p.Ser177Ter,ENST00000598168,;NR1H2,stop_gained,p.Ser177Ter,ENST00000593926,;NR1H2,stop_gained,p.Ser177Ter,ENST00000599105,;NR1H2,stop_gained,p.Ser177Ter,ENST00000597157,;NR1H2,5_prime_UTR_variant,,ENST00000542413,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,missense_variant,p.His135Asn,ENST00000593532,;NR1H2,downstream_gene_variant,,ENST00000595730,;NR1H2,upstream_gene_variant,,ENST00000597085,;	765	82	56	SUCCESS
DUS3L	56931	.	GRCh37	19	5789643	5789643	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1164641504	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	50	94	1	ENST00000309061.7:c.475G>T	p.Gly159Cys	p.G159C	ENST00000309061	NM_020175.2	159	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS32880.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCCAGGT	NONE	.	.	.	.	.	ENSP00000311977	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000309061	Transcript	.	.	ENSG00000141994	26920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DUS3L_HUMAN	DUS3L	HGNC	D6W636_HUMAN	.	UPI0000140953	SNV	DUS3L,missense_variant,p.Gly159Cys,ENST00000309061,;DUS3L,3_prime_UTR_variant,,ENST00000592491,;DUS3L,intron_variant,,ENST00000320699,;PRR22,upstream_gene_variant,,ENST00000419421,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,upstream_gene_variant,,ENST00000590343,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590681,;DUS3L,3_prime_UTR_variant,,ENST00000585587,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,intron_variant,,ENST00000590110,;DUS3L,upstream_gene_variant,,ENST00000591560,;DUS3L,upstream_gene_variant,,ENST00000593229,;DUS3L,upstream_gene_variant,,ENST00000592468,;DUS3L,downstream_gene_variant,,ENST00000589854,;DUS3L,upstream_gene_variant,,ENST00000590087,;DUS3L,upstream_gene_variant,,ENST00000589841,;DUS3L,upstream_gene_variant,,ENST00000592673,;	572	95	93	SUCCESS
FBN3	84467	.	GRCh37	19	8138130	8138130	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775168991	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	16	397	1	ENST00000270509.2:c.7754G>A	p.Arg2585His	p.R2585H	ENST00000270509	NM_032447.3	2585	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12196.1	7754	MUTECT|MUSE	.	TGTTGCGACAG	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	62/64	.	.	.	.	.	.	.	.	rs775168991	62/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.88)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Arg2585His,ENST00000600128,;FBN3,missense_variant,p.Arg2585His,ENST00000601739,;FBN3,missense_variant,p.Arg2585His,ENST00000270509,;FBN3,downstream_gene_variant,,ENST00000595036,;	8169	399	249	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145248824	145248824	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs782566815	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1243	79	1287	0	ENST00000369340.3:c.-33C>G		p.*11*	ENST00000369340				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS909.1	.	MUSE|VARSCANS	.	AGTGTCGAGAT	NONE	byFrequency	.	.	.	.	ENSP00000358346	.	3/6	.	.	.	.	.	.	.	.	rs782566815	3/6	PASS	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,5_prime_UTR_variant,,ENST00000369340,;NOTCH2NL,5_prime_UTR_variant,,ENST00000362074,;NOTCH2NL,5_prime_UTR_variant,,ENST00000344859,;RP11-458D21.5,5_prime_UTR_variant,,ENST00000468030,;	412	1287	1322	SUCCESS
HFE2	0	.	GRCh37	1	145416462	145416462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	35	136	0	ENST00000336751.5:c.807C>A	p.Asn269Lys	p.N269K	ENST00000336751	NM_213653.3	269	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS910.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAACCCTGG	NONE	.	.	hmmpanther:PTHR31428:SF3,hmmpanther:PTHR31428,Pfam_domain:PF06534	.	.	ENSP00000337014	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336751	Transcript	.	.	ENSG00000168509	4887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.83)	.	RGMC_HUMAN	HFE2	HGNC	F8W6J7_HUMAN,A8K466_HUMAN	.	UPI000013EB58	SNV	HFE2,missense_variant,p.Asn269Lys,ENST00000336751,;HFE2,missense_variant,p.Asn43Lys,ENST00000475797,;HFE2,missense_variant,p.Asn43Lys,ENST00000497365,;HFE2,missense_variant,p.Asn156Lys,ENST00000357836,;HFE2,downstream_gene_variant,,ENST00000421822,;	1045	136	124	SUCCESS
LIX1L	128077	.	GRCh37	1	145477136	145477136	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	72	0	ENST00000369308.3:c.-23G>T		p.*8*	ENST00000369308	NM_153713.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS915.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGCGCTA	NONE	.	.	.	.	.	ENSP00000358314	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000369308	Transcript	.	.	ENSG00000152022	28715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIX1L_HUMAN	LIX1L	HGNC	.	.	UPI0000074663	SNV	LIX1L,5_prime_UTR_variant,,ENST00000369308,;ANKRD34A,downstream_gene_variant,,ENST00000323397,;RP11-315I20.1,intron_variant,,ENST00000600340,;	52	72	51	SUCCESS
PLEKHM2	23207	.	GRCh37	1	16051919	16051919	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs552932422	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	143	1	ENST00000375799.3:c.820G>A	p.Glu274Lys	p.E274K	ENST00000375799	NM_015164.2	274	Gag/Aag	0	.	A:0.0008	.	A:0	.	A	E/K	protein_coding	YES	CCDS44063.1	820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACGAGGAG	NONE	by1000G	.	.	A:0	.	ENSP00000364956	A:0	8/20	.	.	.	.	.	.	.	.	rs552932422	8/20	PASS	ENST00000375799	Transcript	.	A:0.0002	ENSG00000116786	29131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	A:0	deleterious_low_confidence(0.01)	.	PKHM2_HUMAN	PLEKHM2	HGNC	.	.	UPI00001C1D9C	SNV	PLEKHM2,missense_variant,p.Glu254Lys,ENST00000375793,;PLEKHM2,missense_variant,p.Glu274Lys,ENST00000375799,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,upstream_gene_variant,,ENST00000477849,;	1047	144	112	SUCCESS
DISP1	84976	.	GRCh37	1	223177045	223177045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	107	170	0	ENST00000284476.6:c.2306A>G	p.Lys769Arg	p.K769R	ENST00000284476	NM_032890.3	769	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1536.1	2306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAAAAAGC	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115	.	.	ENSP00000284476	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000284476	Transcript	.	.	ENSG00000154309	19711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.7)	.	DISP1_HUMAN	DISP1	HGNC	.	.	UPI000016069D	SNV	DISP1,missense_variant,p.Lys769Arg,ENST00000284476,;	2470	170	183	SUCCESS
OBSCN	84033	.	GRCh37	1	228526698	228526698	+	synonymous_variant	Silent	SNP	T	T	C	rs751416415	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	75	225	0	ENST00000422127.1:c.17229T>C	p.Asn5743=	p.N5743=	ENST00000422127	NM_001098623.2	5743	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS59204.1	20100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAATGTGCG	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000455507	.	80/116	.	.	.	.	.	.	.	.	rs751416415	80/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000441106,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	20174	225	246	SUCCESS
OR2T6	254879	.	GRCh37	1	248551236	248551236	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	49	107	1	ENST00000355728.2:c.327G>T	p.Gly109=	p.G109=	ENST00000355728	NM_001005471.1	109	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31114.1	327	RADIA|SOMATICSNIPER|VARSCANS	.	ATGGGGGCTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	COSM534138	1/1	PASS	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,synonymous_variant,p.%3D,ENST00000355728,;	327	109	142	SUCCESS
RSPO1	284654	.	GRCh37	1	38082337	38082337	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	71	249	1	ENST00000356545.2:c.105G>A	p.Glu35=	p.E35=	ENST00000356545	NM_001038633.3	35	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS41304.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCTCGGC	NONE	.	.	hmmpanther:PTHR23275:SF33,hmmpanther:PTHR23275,SMART_domains:SM00261	.	.	ENSP00000348944	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000356545	Transcript	.	.	ENSG00000169218	21679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSPO1_HUMAN	RSPO1	HGNC	.	.	UPI0000674A16	SNV	RSPO1,synonymous_variant,p.%3D,ENST00000401070,;RSPO1,synonymous_variant,p.%3D,ENST00000401068,;RSPO1,synonymous_variant,p.%3D,ENST00000401069,;RSPO1,synonymous_variant,p.%3D,ENST00000401071,;RSPO1,synonymous_variant,p.%3D,ENST00000356545,;RSPO1,synonymous_variant,p.%3D,ENST00000373059,;	893	250	182	SUCCESS
MACF1	23499	.	GRCh37	1	39920643	39920643	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	6	124	0	ENST00000372915.3:c.20646T>A	p.Ala6882=	p.A6882=	ENST00000372915		6882	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS435.1	14772	MUTECT|MUSE|VARSCANS	.	GTGGCTAATGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150	.	.	ENSP00000439537	.	85/94	.	.	.	.	.	.	.	.	.	85/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000372925,;MACF1,synonymous_variant,p.%3D,ENST00000361689,;MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000539005,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000317713,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,synonymous_variant,p.%3D,ENST00000545844,;MACF1,synonymous_variant,p.%3D,ENST00000360115,;MACF1,upstream_gene_variant,,ENST00000446276,;MACF1,upstream_gene_variant,,ENST00000497964,;MACF1,downstream_gene_variant,,ENST00000487656,;	14880	124	81	SUCCESS
IPO13	9670	.	GRCh37	1	44415602	44415602	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	55	0	ENST00000372343.3:c.598G>A	p.Ala200Thr	p.A200T	ENST00000372343	NM_014652.3	200	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS503.1	598	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGCTGTC	NONE	.	.	hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF29,Gene3D:1.25.10.10,Pfam_domain:PF08389,Superfamily_domains:SSF48371	.	.	ENSP00000361418	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000372343	Transcript	.	.	ENSG00000117408	16853	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.63)	.	IPO13_HUMAN	IPO13	HGNC	.	.	UPI0000073F11	SNV	IPO13,missense_variant,p.Ala200Thr,ENST00000372343,;RP11-7O11.3,upstream_gene_variant,,ENST00000412378,;RP11-7O11.3,upstream_gene_variant,,ENST00000445226,;RP11-7O11.3,upstream_gene_variant,,ENST00000446167,;IPO13,intron_variant,,ENST00000489773,;IPO13,upstream_gene_variant,,ENST00000492152,;IPO13,downstream_gene_variant,,ENST00000489061,;	1260	55	48	SUCCESS
BEND5	79656	.	GRCh37	1	49208383	49208383	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs902044046	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	73	0	ENST00000371833.3:c.806G>A	p.Arg269Gln	p.R269Q	ENST00000371833	NM_024603.2	269	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS552.2	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGTAAC	NONE	.	.	hmmpanther:PTHR14628	.	.	ENSP00000360899	.	4/6	.	.	.	.	.	.	.	.	COSM1184660,COSM1184659	4/6	PASS	ENST00000371833	Transcript	.	.	ENSG00000162373	25668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0)	.	tolerated(1)	1,1	BEND5_HUMAN	BEND5	HGNC	.	.	UPI00002042F4	SNV	BEND5,missense_variant,p.Arg269Gln,ENST00000371833,;AGBL4,intron_variant,,ENST00000371839,;AGBL4,intron_variant,,ENST00000416121,;AGBL4,intron_variant,,ENST00000371838,;BEND5,intron_variant,,ENST00000476096,;BEND5,intron_variant,,ENST00000476079,;BEND5,non_coding_transcript_exon_variant,,ENST00000463562,;	893	73	54	SUCCESS
ID1	3397	.	GRCh37	20	30193820	30193820	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	29	0	ENST00000376112.3:c.427-36C>T		p.*143*	ENST00000376112	NM_002165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13185.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCCAACC	NONE	.	.	.	.	.	ENSP00000365280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376112	Transcript	.	.	ENSG00000125968	5360	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID1_HUMAN	ID1	HGNC	.	.	UPI000012D18F	SNV	ID1,3_prime_UTR_variant,,ENST00000376105,;ID1,intron_variant,,ENST00000376112,;MIR3193,upstream_gene_variant,,ENST00000578262,;	.	29	30	SUCCESS
BAGE2	85319	.	GRCh37	21	11039196	11039196	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	386	36	534	0	ENST00000470054.1:n.1008A>G		p.*336*	ENST00000470054				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	TTCAATGACAA	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1008	534	423	SUCCESS
DSCAM	1826	.	GRCh37	21	41416175	41416175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	130	0	ENST00000400454.1:c.5213C>A	p.Ala1738Asp	p.A1738D	ENST00000400454	NM_001271534.1	1738	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS42929.1	5213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCCTTG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16	.	.	ENSP00000383303	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.01)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Ala1490Asp,ENST00000404019,;DSCAM,missense_variant,p.Ala1738Asp,ENST00000400454,;	5691	130	107	SUCCESS
KRTAP10-9	386676	.	GRCh37	21	46047076	46047076	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	23	121	0	ENST00000397911.3:c.-13T>C		p.*5*	ENST00000397911	NM_198690.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42961.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCCCCA	NONE	.	.	.	.	.	ENSP00000381009	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000397911	Transcript	.	.	ENSG00000221837	22971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR109_HUMAN	KRTAP10-9	HGNC	.	.	UPI000036709D	SNV	KRTAP10-9,5_prime_UTR_variant,,ENST00000397911,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-9,non_coding_transcript_exon_variant,,ENST00000484861,;	37	121	100	SUCCESS
CDC45	8318	.	GRCh37	22	19481906	19481906	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	41	182	0	ENST00000263201.1:c.542+1G>T		p.X181_splice	ENST00000263201	NM_003504.4	181		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGTGAGT	NONE	.	.	.	.	.	ENSP00000405726	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000437685	Transcript	.	.	ENSG00000093009	1739	.	.	HIGH	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDC45_HUMAN	CDC45	HGNC	C9K087_HUMAN	.	UPI000042153E	SNV	CDC45,splice_donor_variant,,ENST00000404724,;CDC45,splice_donor_variant,,ENST00000407835,;CDC45,splice_donor_variant,,ENST00000263201,;CDC45,splice_donor_variant,,ENST00000437685,;CDC45,downstream_gene_variant,,ENST00000438587,;CDC45,splice_donor_variant,,ENST00000483431,;CDC45,splice_donor_variant,,ENST00000487669,;CDC45,splice_donor_variant,,ENST00000428937,;	.	182	126	SUCCESS
IGLJ2	28832	.	GRCh37	22	23241818	23241818	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	87	0	ENST00000390322.2:c.125C>T	p.Thr42Ile	p.T42I	ENST00000390322		42	aCc/aTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGACCAAGC	NONE	.	3813	.	.	.	ENSP00000431254	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000526893	Transcript	.	.	ENSG00000254709	38476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAC1_HUMAN,IGLL5_HUMAN	IGLL5	HGNC	A0M8Q9_HUMAN	.	UPI0000119C74	SNV	IGLL5,downstream_gene_variant,,ENST00000532223,;IGLL5,downstream_gene_variant,,ENST00000526893,;IGLL5,downstream_gene_variant,,ENST00000531372,;IGLJ2,missense_variant,p.Thr42Ile,ENST00000390322,;IGLC2,upstream_gene_variant,,ENST00000390323,;IGLC1,downstream_gene_variant,,ENST00000390321,;	.	87	70	SUCCESS
GCAT	23464	.	GRCh37	22	38212648	38212648	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	119	0	ENST00000248924.6:c.1183G>A	p.Val395Met	p.V395M	ENST00000248924	NM_014291.3	395	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54527.1	1261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGTGCAT	NONE	.	.	hmmpanther:PTHR13693:SF57,hmmpanther:PTHR13693,TIGRFAM_domain:TIGR01822,Gene3D:3.90.1150.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383	.	.	ENSP00000371110	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000323205	Transcript	.	.	ENSG00000100116	4188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0)	.	KBL_HUMAN	GCAT	HGNC	.	.	UPI000020770F	SNV	GCAT,missense_variant,p.Val395Met,ENST00000248924,;GCAT,missense_variant,p.Val421Met,ENST00000323205,;GCAT,downstream_gene_variant,,ENST00000451984,;GCAT,downstream_gene_variant,,ENST00000445195,;GCAT,downstream_gene_variant,,ENST00000415371,;GCAT,downstream_gene_variant,,ENST00000426858,;GCAT,downstream_gene_variant,,ENST00000478203,;	1324	119	110	SUCCESS
SOX10	6663	.	GRCh37	22	38369604	38369604	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	36	0	ENST00000360880.2:c.1299G>A	p.Arg433=	p.R433=	ENST00000360880		433	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13964.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCCGCTG	NONE	.	.	hmmpanther:PTHR10270:SF106,hmmpanther:PTHR10270	.	.	ENSP00000380093	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396884	Transcript	.	.	ENSG00000100146	11190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX10_HUMAN	SOX10	HGNC	A6PVD3_HUMAN	.	UPI00001362AA	SNV	SOX10,synonymous_variant,p.%3D,ENST00000360880,;SOX10,synonymous_variant,p.%3D,ENST00000396884,;POLR2F,intron_variant,,ENST00000407936,;SOX10,intron_variant,,ENST00000446929,;POLR2F,intron_variant,,ENST00000405557,;SOX10,downstream_gene_variant,,ENST00000427770,;POLR2F,downstream_gene_variant,,ENST00000442738,;POLR2F,downstream_gene_variant,,ENST00000484894,;SOX10,downstream_gene_variant,,ENST00000470555,;POLR2F,intron_variant,,ENST00000443002,;	1582	36	32	SUCCESS
DPP10	57628	.	GRCh37	2	116534805	116534805	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150929011	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	8	188	0	ENST00000410059.1:c.1243G>A	p.Val415Met	p.V415M	ENST00000410059	NM_001178037.1	415	Gtg/Atg	0	A:0.0007	.	.	.	.	A	V/M	protein_coding	YES	CCDS54388.1	1255	MUTECT|MUSE	.	TTACCGTGCGG	SITE|p.V408M|c.1222G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	A:0	ENSP00000376855	.	14/26	.	.	.	.	.	.	.	.	rs150929011,COSM74428,COSM1398958	14/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.091)	.	tolerated(0.09)	0,1,1	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Val419Met,ENST00000393147,;DPP10,missense_variant,p.Val365Met,ENST00000409163,;DPP10,missense_variant,p.Val408Met,ENST00000310323,;DPP10,missense_variant,p.Val415Met,ENST00000410059,;	1610	188	163	SUCCESS
ACVR2A	92	.	GRCh37	2	148684653	148684659	+	frameshift_variant	Frame_Shift_Del	DEL	TGGCAAT	TGGCAAT	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	TGGCAAT	TGGCAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	116	0	ENST00000241416.7:c.1352_1358del	p.Met451SerfsTer23	p.M451Sfs*23	ENST00000241416	NM_001616.4	451	aTGGCAATg/ag	0	.	.	.	.	.	-	MAM/X	protein_coding	YES	CCDS33301.1	1352-1358	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGAATGGCAATGCTCT	NONE	.	.	Prints_domain:PR00653,Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	deletion	ACVR2A,frameshift_variant,p.Met451SerfsTer23,ENST00000241416,;ACVR2A,frameshift_variant,p.Met451SerfsTer23,ENST00000404590,;ACVR2A,frameshift_variant,p.Met343SerfsTer23,ENST00000535787,;ORC4,downstream_gene_variant,,ENST00000392857,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	1988-1994	116	68	SUCCESS
GPR1	2825	.	GRCh37	2	207040977	207040977	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	114	0	ENST00000407325.2:c.995G>A	p.Cys332Tyr	p.C332Y	ENST00000407325	NM_001098199.1	332	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS2368.1	995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAACAGCTG	NONE	.	.	Prints_domain:PR01146,hmmpanther:PTHR24229:SF4,hmmpanther:PTHR24229	.	.	ENSP00000384345	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000407325	Transcript	.	.	ENSG00000183671	4463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	tolerated(1)	.	GPR1_HUMAN	GPR1	HGNC	C9JSU0_HUMAN,C9JQB7_HUMAN,C9JKF3_HUMAN,C9JFR8_HUMAN,C9JCK1_HUMAN,C9J456_HUMAN	.	UPI000013C9FB	SNV	GPR1,missense_variant,p.Cys332Tyr,ENST00000407325,;GPR1,missense_variant,p.Cys332Tyr,ENST00000437420,;GPR1,downstream_gene_variant,,ENST00000442134,;GPR1,downstream_gene_variant,,ENST00000439932,;GPR1,downstream_gene_variant,,ENST00000458440,;GPR1,downstream_gene_variant,,ENST00000447845,;GPR1,downstream_gene_variant,,ENST00000451790,;GPR1,downstream_gene_variant,,ENST00000411719,;	1358	114	106	SUCCESS
ECEL1	9427	.	GRCh37	2	233345176	233345176	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779471802	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	135	0	ENST00000304546.1:c.2161A>G	p.Ile721Val	p.I721V	ENST00000304546	NM_004826.2	721	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2493.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATGCACC	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	17/18	.	.	.	.	.	.	.	.	rs779471802	17/18	PASS	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	.	tolerated(0.7)	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,missense_variant,p.Ile719Val,ENST00000409941,;ECEL1,missense_variant,p.Ile721Val,ENST00000304546,;ECEL1,missense_variant,p.Ile114Val,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	2372	135	106	SUCCESS
TSSC1	0	.	GRCh37	2	3217959	3217959	+	synonymous_variant	Silent	SNP	G	G	A	rs909138274	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	85	1	ENST00000382125.4:c.477C>T	p.Ile159=	p.I159=	ENST00000382125	NM_003310.2	159	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS1651.1	477	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGATATG	NONE	.	.	Superfamily_domains:0049172,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205,PROSITE_profiles:PS50294	.	.	ENSP00000371559	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000382125	Transcript	.	.	ENSG00000032389	12383	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSSC1_HUMAN	TSSC1	HGNC	.	.	UPI000006DFE1	SNV	TSSC1,synonymous_variant,p.%3D,ENST00000398659,;TSSC1,synonymous_variant,p.%3D,ENST00000382125,;TSSC1,synonymous_variant,p.%3D,ENST00000443925,;TSSC1,intron_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000463662,;TSSC1,non_coding_transcript_exon_variant,,ENST00000462515,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,missense_variant,p.Ser107Phe,ENST00000435721,;TSSC1,3_prime_UTR_variant,,ENST00000455162,;TSSC1,3_prime_UTR_variant,,ENST00000406835,;TSSC1,non_coding_transcript_exon_variant,,ENST00000482570,;TSSC1,non_coding_transcript_exon_variant,,ENST00000470625,;	670	86	90	SUCCESS
OTX1	5013	.	GRCh37	2	63282703	63282703	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774306777	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	75	278	1	ENST00000282549.2:c.317G>T	p.Arg106Leu	p.R106L	ENST00000282549	NM_014562.3	106	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1873.1	317	RADIA|SOMATICSNIPER|VARSCANS	.	GAGCCGCCCAG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF310	.	.	ENSP00000282549	.	5/5	.	.	.	.	.	.	.	.	rs774306777	5/5	PASS	ENST00000282549	Transcript	.	.	ENSG00000115507	8521	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.863)	.	deleterious(0.01)	.	OTX1_HUMAN	OTX1	HGNC	Q9P2R2_HUMAN,B4DM62_HUMAN	.	UPI0000130F36	SNV	OTX1,missense_variant,p.Arg106Leu,ENST00000282549,;OTX1,missense_variant,p.Arg106Leu,ENST00000366671,;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;OTX1,downstream_gene_variant,,ENST00000484066,;	593	279	203	SUCCESS
MDH1	4190	.	GRCh37	2	63832431	63832431	+	synonymous_variant	Silent	SNP	C	C	T	rs542095115	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	43	109	0	ENST00000233114.8:c.693C>T	p.Gly231=	p.G231=	ENST00000233114	NM_005917.3	231	ggC/ggT	0	.	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS56121.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGCGCTGC	NONE	by1000G	.	Superfamily_domains:SSF56327,PIRSF_domain:PIRSF000102,Gene3D:3.90.110.10,Pfam_domain:PF02866,TIGRFAM_domain:TIGR01759,TIGRFAM_domain:TIGR01758,hmmpanther:PTHR23382,HAMAP:MF_01517	T:0	.	ENSP00000438144	T:0	7/9	.	.	.	.	.	.	.	.	rs542095115	7/9	PASS	ENST00000539945	Transcript	.	T:0.0002	ENSG00000014641	6970	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	MDHC_HUMAN	MDH1	HGNC	C9JRL4_HUMAN,C9JF79_HUMAN	.	UPI0001E92A3D	SNV	MDH1,synonymous_variant,p.%3D,ENST00000544381,;MDH1,synonymous_variant,p.%3D,ENST00000409476,;MDH1,synonymous_variant,p.%3D,ENST00000409908,;MDH1,synonymous_variant,p.%3D,ENST00000539945,;MDH1,synonymous_variant,p.%3D,ENST00000394423,;MDH1,synonymous_variant,p.%3D,ENST00000233114,;MDH1,downstream_gene_variant,,ENST00000432309,;WDPCP,intron_variant,,ENST00000490935,;WDPCP,intron_variant,,ENST00000467687,;MDH1,upstream_gene_variant,,ENST00000495083,;MDH1,downstream_gene_variant,,ENST00000421012,;	842	109	102	SUCCESS
CTNNA2	1496	.	GRCh37	2	80801440	80801440	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	136	0	ENST00000402739.4:c.1893+1G>T		p.X631_splice	ENST00000402739	NM_001282597.1	631		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42703.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGTATGT	NONE	.	.	.	.	.	ENSP00000418191	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	HIGH	17/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,splice_donor_variant,,ENST00000496558,;CTNNA2,splice_donor_variant,,ENST00000361291,;CTNNA2,splice_donor_variant,,ENST00000541047,;CTNNA2,splice_donor_variant,,ENST00000343114,;CTNNA2,splice_donor_variant,,ENST00000540488,;CTNNA2,splice_donor_variant,,ENST00000466387,;CTNNA2,splice_donor_variant,,ENST00000402739,;AC008067.2,downstream_gene_variant,,ENST00000609950,;AC008067.2,downstream_gene_variant,,ENST00000430876,;AC008067.2,downstream_gene_variant,,ENST00000596887,;	.	136	118	SUCCESS
FER1L5	90342	.	GRCh37	2	97360146	97360146	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	93	0	ENST00000414152.1:n.3767G>A		p.*1256*	ENST00000414152				0	.	.	.	.	.	A	.	retained_intron	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGGGGCAT	NONE	.	.	.	.	.	.	.	17/35	.	.	.	.	.	.	.	.	.	17/35	PASS	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;FER1L5,upstream_gene_variant,,ENST00000397978,;	2145	93	72	SUCCESS
GRIP2	80852	.	GRCh37	3	14548392	14548392	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs374577398	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	62	174	1	ENST00000273083.3:n.2380G>A		p.*794*	ENST00000273083				0	T:0	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCGGGCT	NONE	byFrequency|byCluster	.	.	.	T:0.0001	.	.	19/24	.	.	.	.	.	.	.	.	rs374577398	19/24	PASS	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000430219,;GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;	2380	175	136	SUCCESS
SPATA16	83893	.	GRCh37	3	172643141	172643141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	94	0	ENST00000351008.3:c.1223T>A	p.Phe408Tyr	p.F408Y	ENST00000351008	NM_031955.5	408	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS3221.1	1223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGAATATC	NONE	.	.	hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015	.	.	ENSP00000341765	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	deleterious(0.03)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Phe408Tyr,ENST00000351008,;	1407	94	83	SUCCESS
CLDN16	10686	.	GRCh37	3	190126207	190126207	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	124	0	ENST00000264734.2:c.697G>A	p.Gly233Ser	p.G233S	ENST00000264734	NM_006580.3	233	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3296.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTGGTTGG	NONE	.	.	hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF56,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000264734	.	4/5	.	.	.	.	.	.	.	.	CM056565	4/5	PASS	ENST00000264734	Transcript	.	.	ENSG00000113946	2037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	CLD16_HUMAN	CLDN16	HGNC	.	.	UPI0000127AB8	SNV	CLDN16,missense_variant,p.Gly233Ser,ENST00000264734,;CLDN16,intron_variant,,ENST00000456423,;CLDN16,downstream_gene_variant,,ENST00000468220,;	945	124	101	SUCCESS
CNOT10	25904	.	GRCh37	3	32757737	32757737	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	155	0	ENST00000328834.5:c.594A>G	p.Lys198=	p.K198=	ENST00000328834	NM_015442.2	198	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS58822.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAAGATGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979	.	.	ENSP00000399862	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000454516	Transcript	.	.	ENSG00000182973	23817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNO10_HUMAN	CNOT10	HGNC	B7Z5B3_HUMAN	.	UPI000206533D	SNV	CNOT10,synonymous_variant,p.%3D,ENST00000328834,;CNOT10,synonymous_variant,p.%3D,ENST00000331889,;CNOT10,synonymous_variant,p.%3D,ENST00000454516,;CNOT10,5_prime_UTR_variant,,ENST00000538368,;CNOT10,non_coding_transcript_exon_variant,,ENST00000556853,;CNOT10,non_coding_transcript_exon_variant,,ENST00000463697,;CNOT10,non_coding_transcript_exon_variant,,ENST00000494439,;CNOT10,synonymous_variant,p.%3D,ENST00000416457,;CNOT10,synonymous_variant,p.%3D,ENST00000435630,;CNOT10,3_prime_UTR_variant,,ENST00000455381,;CNOT10,downstream_gene_variant,,ENST00000485136,;	851	155	115	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913409	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	54	210	0	ENST00000349496.5:c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000349496	NM_001904.3	45	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45Y|c.134C>A|27,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45F|c.134C>T|518,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.968)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	210	112	SUCCESS
BHLHE40	8553	.	GRCh37	3	5025203	5025203	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	145	1	ENST00000256495.3:c.1065C>T	p.Leu355=	p.L355=	ENST00000256495	NM_003670.2	355	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2565.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCAACGC	NONE	.	.	hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF3	.	.	ENSP00000256495	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000256495	Transcript	.	.	ENSG00000134107	1046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHE40_HUMAN	BHLHE40	HGNC	Q6IB83_HUMAN	.	UPI0000126923	SNV	BHLHE40,synonymous_variant,p.%3D,ENST00000256495,;BHLHE40-AS1,upstream_gene_variant,,ENST00000441386,;BHLHE40-AS1,upstream_gene_variant,,ENST00000434530,;BHLHE40-AS1,upstream_gene_variant,,ENST00000420832,;BHLHE40,downstream_gene_variant,,ENST00000467610,;BHLHE40,downstream_gene_variant,,ENST00000460806,;	1668	146	94	SUCCESS
ADH1B	125	.	GRCh37	4	100235183	100235183	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1442109099	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	46	300	0	ENST00000305046.8:c.623C>T	p.Ala208Val	p.A208V	ENST00000305046		208	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34033.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAGCAGAT	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000306606	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000305046	Transcript	1	.	ENSG00000196616	250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ADH1B_HUMAN	ADH1B	HGNC	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN	.	UPI00001699B5	SNV	ADH1B,missense_variant,p.Ala168Val,ENST00000394887,;ADH1B,missense_variant,p.Ala208Val,ENST00000305046,;ADH1B,downstream_gene_variant,,ENST00000504498,;ADH1B,3_prime_UTR_variant,,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;	691	300	199	SUCCESS
ADH1C	126	.	GRCh37	4	100264201	100264201	+	synonymous_variant	Silent	SNP	C	C	G	rs754312357	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	8	143	0	ENST00000515683.1:c.579G>C	p.Gly193=	p.G193=	ENST00000515683	NM_000669.3	193	ggG/ggC	0	.	.	.	.	.	G	G	polymorphic_pseudogene	YES	.	579	MUTECT|MUSE	.	GTAGACCCTGG	NONE	byFrequency	.	.	.	.	ENSP00000426083	.	6/9	.	.	.	.	.	.	.	.	rs754312357	6/9	PASS	ENST00000515683	Transcript	.	.	ENSG00000248144	251	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ADH1C	HGNC	.	.	.	SNV	ADH1C,non_coding_transcript_exon_variant,,ENST00000511397,;ADH1C,non_coding_transcript_exon_variant,,ENST00000510055,;ADH1C,downstream_gene_variant,,ENST00000505942,;ADH1C,synonymous_variant,p.%3D,ENST00000515683,;	931	143	129	SUCCESS
FAT4	79633	.	GRCh37	4	126372517	126372517	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	124	0	ENST00000394329.3:c.10346A>T	p.Glu3449Val	p.E3449V	ENST00000394329	NM_024582.4	3449	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS3732.3	10346	MUTECT|MUSE	.	GAATGAAAATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.493)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Glu3449Val,ENST00000394329,;FAT4,missense_variant,p.Glu1747Val,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	10359	124	91	SUCCESS
FAT4	79633	.	GRCh37	4	126400895	126400895	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	54	0	ENST00000394329.3:c.12474-1G>A		p.X4158_splice	ENST00000394329	NM_024582.4	4158		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3732.3	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTAGATGCC	NONE	.	.	.	.	.	ENSP00000377862	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	HIGH	13/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,splice_acceptor_variant,,ENST00000394329,;FAT4,intron_variant,,ENST00000335110,;	.	54	39	SUCCESS
BST1	683	.	GRCh37	4	15709230	15709230	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	125	0	ENST00000265016.4:c.412G>A	p.Ala138Thr	p.A138T	ENST00000265016	NM_004334.2	138	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3416.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTGCAGAT	NONE	.	.	hmmpanther:PTHR10912:SF4,hmmpanther:PTHR10912,Pfam_domain:PF02267,Gene3D:1.20.82.10,Superfamily_domains:SSF52309	.	.	ENSP00000265016	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000265016	Transcript	.	.	ENSG00000109743	1118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	deleterious(0.04)	.	BST1_HUMAN	BST1	HGNC	.	.	UPI0000072318	SNV	BST1,missense_variant,p.Ala153Thr,ENST00000382346,;BST1,missense_variant,p.Ala138Thr,ENST00000265016,;BST1,missense_variant,p.Ala34Thr,ENST00000505785,;BST1,upstream_gene_variant,,ENST00000514445,;FAM200B,downstream_gene_variant,,ENST00000504598,;	607	126	102	SUCCESS
TMPRSS11E	28983	.	GRCh37	4	69343131	69343131	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs377258215	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	71	168	1	ENST00000305363.4:c.752T>C	p.Ile251Thr	p.I251T	ENST00000305363	NM_014058.3	251	aTa/aCa	0	C:0	.	.	.	.	C	I/T	protein_coding	YES	CCDS33993.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAATAAAAC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF65,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	C:0.0001	ENSP00000307519	.	8/10	.	.	.	.	.	.	.	.	rs377258215	8/10	PASS	ENST00000305363	Transcript	.	.	ENSG00000087128	24465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	.	deleterious(0)	.	TM11E_HUMAN	TMPRSS11E	HGNC	Q4W5P3_HUMAN	.	UPI00000389F7	SNV	TMPRSS11E,missense_variant,p.Ile251Thr,ENST00000305363,;TMPRSS11E,3_prime_UTR_variant,,ENST00000510647,;	816	169	165	SUCCESS
ALB	213	.	GRCh37	4	74274521	74274524	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	AAGT	AAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	54	0	ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	481-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	6	.	HIGH	4/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	570-?	54	41	SUCCESS
YTHDC2	64848	.	GRCh37	5	112926896	112926896	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	34	137	1	ENST00000161863.4:c.3984C>T	p.Ser1328=	p.S1328=	ENST00000161863	NM_022828.3	1328	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4113.1	3984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCATAGT	NONE	.	.	Pfam_domain:PF04146,PROSITE_profiles:PS50882	.	.	ENSP00000161863	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000161863	Transcript	.	.	ENSG00000047188	24721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YTDC2_HUMAN	YTHDC2	HGNC	D6RA70_HUMAN	.	UPI0000367311	SNV	YTHDC2,synonymous_variant,p.%3D,ENST00000161863,;YTHDC2,non_coding_transcript_exon_variant,,ENST00000507567,;YTHDC2,non_coding_transcript_exon_variant,,ENST00000512600,;	4197	139	134	SUCCESS
KDM3B	51780	.	GRCh37	5	137734001	137734001	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	69	183	0	ENST00000314358.5:c.2966A>G	p.Tyr989Cys	p.Y989C	ENST00000314358	NM_016604.3	989	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34242.1	2966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATACATCC	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.Tyr21Cys,ENST00000542866,;KDM3B,missense_variant,p.Tyr645Cys,ENST00000394866,;KDM3B,missense_variant,p.Tyr989Cys,ENST00000314358,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,non_coding_transcript_exon_variant,,ENST00000504095,;	3166	183	209	SUCCESS
TENM2	57451	.	GRCh37	5	167674450	167674450	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778860546	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	8	239	0	ENST00000518659.1:c.6506G>A	p.Arg2169Gln	p.R2169Q	ENST00000518659	NM_001122679.1	2169	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	6506	MUTECT|MUSE	.	GTTCCGGTCCC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219	.	.	ENSP00000429430	.	27/29	.	.	.	.	.	.	.	.	rs778860546	27/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Arg2168Gln,ENST00000545108,;TENM2,missense_variant,p.Arg1930Gln,ENST00000520394,;TENM2,missense_variant,p.Arg2048Gln,ENST00000519204,;TENM2,missense_variant,p.Arg2169Gln,ENST00000518659,;TENM2,missense_variant,p.Arg1993Gln,ENST00000403607,;	6545	239	245	SUCCESS
RP11-423H2.1	0	.	GRCh37	5	177309375	177309375	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	548	200	710	0	ENST00000506672.1:n.707C>G		p.*236*	ENST00000506672				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCAGAAC	NONE	.	.	.	.	.	.	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000506672	Transcript	.	.	ENSG00000170089	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-423H2.1	Clone_based_vega_gene	.	.	.	SNV	RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000511074,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000515065,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000507037,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000506082,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000510692,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000506672,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000515525,;RP11-423H2.1,upstream_gene_variant,,ENST00000514635,;RP11-423H2.1,upstream_gene_variant,,ENST00000503449,;RP11-423H2.1,upstream_gene_variant,,ENST00000358442,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000502601,;RP11-423H2.1,upstream_gene_variant,,ENST00000504756,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000512851,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000303154,;	707	710	748	SUCCESS
KIAA0947	0	.	GRCh37	5	5463008	5463008	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	112	0	ENST00000296564.7:c.3561T>A	p.Tyr1187Ter	p.Y1187*	ENST00000296564	NM_015325.2	1187	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS47187.1	3561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTATAGTTC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,stop_gained,p.Tyr1187Ter,ENST00000296564,;	3783	112	99	SUCCESS
PPAP2A	0	.	GRCh37	5	54763977	54763977	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	60	0	ENST00000307259.8:c.211A>G	p.Ile71Val	p.I71V	ENST00000307259	NM_003711.3	71	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34160.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAATCTGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF26,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000264775	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000264775	Transcript	.	.	ENSG00000067113	9228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.26)	.	LPP1_HUMAN	PPAP2A	HGNC	.	.	UPI0000150635	SNV	PPAP2A,missense_variant,p.Ile72Val,ENST00000264775,;PPAP2A,missense_variant,p.Ile71Val,ENST00000307259,;PPAP2A,splice_region_variant,,ENST00000515132,;PPAP2A,splice_region_variant,,ENST00000509667,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000520263,;	554	60	74	SUCCESS
POC5	134359	.	GRCh37	5	74981292	74981292	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1275229292	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	47	66	0	ENST00000428202.2:c.1147A>C	p.Asn383His	p.N383H	ENST00000428202	NM_001099271.1	383	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS47236.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATTATTTG	NONE	.	.	.	.	.	ENSP00000410216	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000428202	Transcript	.	.	ENSG00000152359	26658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	POC5_HUMAN	POC5	HGNC	D6RJ06_HUMAN,D6REA5_HUMAN,D6RBC1_HUMAN	.	UPI000020CB20	SNV	POC5,missense_variant,p.Asn266His,ENST00000510798,;POC5,missense_variant,p.Asn355His,ENST00000514838,;POC5,missense_variant,p.Asn266His,ENST00000380475,;POC5,missense_variant,p.Asn358His,ENST00000446329,;POC5,missense_variant,p.Asn383His,ENST00000428202,;POC5,upstream_gene_variant,,ENST00000503521,;	1337	66	81	SUCCESS
SHPRH	257218	.	GRCh37	6	146275926	146275926	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	46	0	ENST00000275233.7:c.533A>T	p.Glu178Val	p.E178V	ENST00000275233		178	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43513.2	533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTCCACC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552	.	.	ENSP00000356475	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	deleterious_low_confidence(0)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.Glu178Val,ENST00000275233,;SHPRH,missense_variant,p.Glu178Val,ENST00000438092,;SHPRH,missense_variant,p.Glu178Val,ENST00000367505,;SHPRH,missense_variant,p.Glu178Val,ENST00000367503,;SHPRH,missense_variant,p.Glu67Val,ENST00000519632,;SHPRH,missense_variant,p.Glu156Val,ENST00000433355,;SHPRH,upstream_gene_variant,,ENST00000521977,;	798	46	35	SUCCESS
DHX16	8449	.	GRCh37	6	30627293	30627293	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1175528052	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	41	120	1	ENST00000376442.3:c.1963A>G	p.Met655Val	p.M655V	ENST00000376442	NM_001164239.1	655	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS4685.1	1963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATGTCAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934,PROSITE_profiles:PS51194	.	.	ENSP00000365625	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	SNV	DHX16,missense_variant,p.Met174Val,ENST00000376437,;DHX16,missense_variant,p.Met655Val,ENST00000376442,;DHX16,non_coding_transcript_exon_variant,,ENST00000480966,;	2159	121	170	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42957352	42957352	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1181904491	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	79	0	ENST00000485511.1:c.31C>T	p.Pro11Ser	p.P11S	ENST00000485511	NM_001270476.1	11	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4878.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257,PIRSF_domain:PIRSF028043	.	.	ENSP00000417963	.	2/16	.	.	.	.	.	.	.	.	COSM1444607	2/16	PASS	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated_low_confidence(0.71)	1	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,missense_variant,p.Pro11Ser,ENST00000394110,;PPP2R5D,missense_variant,p.Pro11Ser,ENST00000485511,;PPP2R5D,missense_variant,p.Pro11Ser,ENST00000472118,;PPP2R5D,intron_variant,,ENST00000461010,;PPP2R5D,missense_variant,p.Pro11Ser,ENST00000230402,;	210	79	64	SUCCESS
CYP39A1	51302	.	GRCh37	6	46620284	46620284	+	synonymous_variant	Silent	SNP	C	C	T	rs767749619	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	88	0	ENST00000275016.2:c.36G>A	p.Leu12=	p.L12=	ENST00000275016	NM_001278739.1	12	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4916.1	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCAGGAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,PIRSF_domain:PIRSF000047	.	.	ENSP00000275016	.	1/12	.	.	.	.	.	.	.	.	rs767749619	1/12	PASS	ENST00000275016	Transcript	.	.	ENSG00000146233	17449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP39A_HUMAN	CYP39A1	HGNC	.	.	UPI000013DA3D	SNV	CYP39A1,synonymous_variant,p.%3D,ENST00000275016,;SLC25A27,upstream_gene_variant,,ENST00000452689,;SLC25A27,upstream_gene_variant,,ENST00000371347,;SLC25A27,upstream_gene_variant,,ENST00000411689,;	240	88	114	SUCCESS
ZAN	7455	.	GRCh37	7	100344318	100344318	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	67	88	0	ENST00000546292.1:c.924A>T	p.Ser308=	p.S308=	ENST00000546292	NM_173059.1	308	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	.	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCAGTCTT	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	7/46	.	.	.	.	.	.	.	.	.	7/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	1072	88	120	SUCCESS
SNX8	29886	.	GRCh37	7	2294745	2294745	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	30	133	0	ENST00000222990.3:c.1344C>G	p.His448Gln	p.H448Q	ENST00000222990	NM_013321.2	448	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS5331.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGTGTGG	NONE	.	.	hmmpanther:PTHR10555:SF15,hmmpanther:PTHR10555	.	.	ENSP00000222990	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000222990	Transcript	.	.	ENSG00000106266	14972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.58)	.	SNX8_HUMAN	SNX8	HGNC	C9JCB9_HUMAN,C9J8E6_HUMAN,C9J014_HUMAN,C9IYC5_HUMAN	.	UPI0000135B46	SNV	SNX8,missense_variant,p.His448Gln,ENST00000222990,;NUDT1,downstream_gene_variant,,ENST00000397046,;NUDT1,downstream_gene_variant,,ENST00000343985,;NUDT1,downstream_gene_variant,,ENST00000397048,;NUDT1,downstream_gene_variant,,ENST00000339737,;NUDT1,downstream_gene_variant,,ENST00000397049,;NUDT1,downstream_gene_variant,,ENST00000356714,;NUDT1,downstream_gene_variant,,ENST00000487426,;SNX8,non_coding_transcript_exon_variant,,ENST00000480807,;SNX8,downstream_gene_variant,,ENST00000479689,;	1387	133	166	SUCCESS
DFNA5	0	.	GRCh37	7	24758744	24758744	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	22	128	0	ENST00000342947.3:c.498G>A	p.Gln166=	p.Q166=	ENST00000342947	NM_004403.2	166	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS5389.1	498	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCTGCAT	NONE	.	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	.	.	ENSP00000339587	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,synonymous_variant,p.%3D,ENST00000409775,;DFNA5,synonymous_variant,p.%3D,ENST00000342947,;DFNA5,synonymous_variant,p.%3D,ENST00000414428,;DFNA5,synonymous_variant,p.%3D,ENST00000545231,;DFNA5,synonymous_variant,p.%3D,ENST00000419307,;DFNA5,synonymous_variant,p.%3D,ENST00000409970,;DFNA5,upstream_gene_variant,,ENST00000415480,;DFNA5,upstream_gene_variant,,ENST00000446822,;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,;DFNA5,synonymous_variant,p.%3D,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;	924	128	158	SUCCESS
SDK1	221935	.	GRCh37	7	4153733	4153733	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1278062937	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	38	155	0	ENST00000404826.2:c.3650G>A	p.Arg1217His	p.R1217H	ENST00000404826	NM_152744.3	1217	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS34590.1	3650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCTCAG	CODON|p.R1217C|c.3649C>T|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	25/45	.	.	.	.	.	.	.	.	.	25/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Arg1217His,ENST00000404826,;SDK1,missense_variant,p.Arg1217His,ENST00000389531,;	3789	156	169	SUCCESS
ABCA13	154664	.	GRCh37	7	48287835	48287835	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	70	83	0	ENST00000435803.1:c.1660-1G>T		p.X554_splice	ENST00000435803	NM_152701.3	554		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47584.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAAGGATCG	NONE	.	.	.	.	.	ENSP00000411096	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	13/61	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,splice_acceptor_variant,,ENST00000435803,;ABCA13,splice_acceptor_variant,,ENST00000417403,;	.	83	102	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72658191	72658191	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	336	145	227	0	ENST00000425256.1:n.1721A>G		p.*574*	ENST00000425256				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATACAAC	NONE	.	.	.	.	.	.	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,downstream_gene_variant,,ENST00000449689,;	1721	227	481	SUCCESS
STEAP4	79689	.	GRCh37	7	87912273	87912273	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774129138	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	61	98	0	ENST00000380079.4:c.667G>A	p.Val223Ile	p.V223I	ENST00000380079	NM_024636.3	223	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS43611.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTACGTCTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5	.	.	ENSP00000369419	.	3/5	.	.	.	.	.	.	.	.	rs774129138	3/5	PASS	ENST00000380079	Transcript	.	.	ENSG00000127954	21923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.3)	.	STEA4_HUMAN	STEAP4	HGNC	.	.	UPI000003C39A	SNV	STEAP4,missense_variant,p.Val223Ile,ENST00000380079,;STEAP4,missense_variant,p.Val223Ile,ENST00000414498,;STEAP4,intron_variant,,ENST00000301959,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000434733,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000600908,;	769	98	127	SUCCESS
PTCD1	26024	.	GRCh37	7	99022509	99022509	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	84	0	ENST00000292478.4:c.1646G>A	p.Arg549Lys	p.R549K	ENST00000292478	NM_015545.3	549	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS56496.1	1793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCTCTTT	NONE	.	.	PROSITE_profiles:PS51375,hmmpanther:PTHR24014:SF5,hmmpanther:PTHR24014	.	.	ENSP00000400168	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000413834	Transcript	.	.	ENSG00000248919	38844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.14)	.	.	ATP5J2-PTCD1	HGNC	G3V325_HUMAN,C9JWL7_HUMAN,C9JQN9_HUMAN,C9JGL8_HUMAN,C9JBD7_HUMAN,A4D273_HUMAN	.	UPI000198CE57	SNV	ATP5J2-PTCD1,missense_variant,p.Arg598Lys,ENST00000413834,;PTCD1,missense_variant,p.Arg598Lys,ENST00000555673,;PTCD1,missense_variant,p.Arg549Lys,ENST00000292478,;PTCD1,downstream_gene_variant,,ENST00000485746,;	1816	84	88	SUCCESS
RGS20	8601	.	GRCh37	8	54792096	54792096	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	72	119	0	ENST00000297313.3:c.444G>A	p.Arg148=	p.R148=	ENST00000297313	NM_170587.2	148	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6155.1	444	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10845:SF154,hmmpanther:PTHR10845	.	.	ENSP00000297313	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000297313	Transcript	.	.	ENSG00000147509	14600	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS20_HUMAN	RGS20	HGNC	B3KSW4_HUMAN	.	UPI000013383C	SNV	RGS20,synonymous_variant,p.%3D,ENST00000297313,;RGS20,intron_variant,,ENST00000344277,;RGS20,upstream_gene_variant,,ENST00000276500,;RGS20,upstream_gene_variant,,ENST00000522225,;RP11-1070A24.2,upstream_gene_variant,,ENST00000606037,;RGS20,upstream_gene_variant,,ENST00000523064,;RGS20,upstream_gene_variant,,ENST00000523414,;RGS20,upstream_gene_variant,,ENST00000518286,;RGS20,intron_variant,,ENST00000523280,;RGS20,intron_variant,,ENST00000517659,;	536	119	126	SUCCESS
RP1	6101	.	GRCh37	8	55540553	55540553	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	34	64	0	ENST00000220676.1:c.4111G>C	p.Asp1371His	p.D1371H	ENST00000220676	NM_006269.1	1371	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS6160.1	4111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGATCTA	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	deleterious(0)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Asp1371His,ENST00000220676,;	4259	64	61	SUCCESS
MUSK	4593	.	GRCh37	9	113509934	113509934	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	81	0	ENST00000374448.4:c.767C>G	p.Ser256Cys	p.S256C	ENST00000374448	NM_005592.3	256	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS48005.1	767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTCCATTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835	.	.	ENSP00000363571	.	7/15	.	.	.	.	.	.	.	.	COSM3652951,COSM3652950	7/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,missense_variant,p.Ser256Cys,ENST00000374448,;MUSK,missense_variant,p.Ser256Cys,ENST00000189978,;MUSK,missense_variant,p.Ser256Cys,ENST00000416899,;	901	81	77	SUCCESS
TMEM203	94107	.	GRCh37	9	140099480	140099491	+	inframe_deletion	In_Frame_Del	DEL	CATGAGCAGCTG	CATGAGCAGCTG	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	CATGAGCAGCTG	CATGAGCAGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	94	0	ENST00000343666.5:c.376_387del	p.Gln126_Met129del	p.Q126_M129del	ENST00000343666	NM_053045.1	126	CAGCTGCTCATG/-	0	.	.	.	.	.	-	QLLM/-	protein_coding	YES	CCDS35185.1	376-387	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGATCATGAGCAGCTGCAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13568	.	.	ENSP00000375053	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343666	Transcript	.	.	ENSG00000187713	28217	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM203_HUMAN	TMEM203	HGNC	.	.	UPI000006E3D0	deletion	TMEM203,inframe_deletion,p.Gln126_Met129del,ENST00000537254,;TMEM203,inframe_deletion,p.Gln126_Met129del,ENST00000343666,;NDOR1,upstream_gene_variant,,ENST00000427047,;NDOR1,upstream_gene_variant,,ENST00000458322,;TPRN,upstream_gene_variant,,ENST00000409012,;TPRN,upstream_gene_variant,,ENST00000321773,;NDOR1,upstream_gene_variant,,ENST00000371521,;TPRN,upstream_gene_variant,,ENST00000333046,;NDOR1,upstream_gene_variant,,ENST00000344894,;TPRN,upstream_gene_variant,,ENST00000541945,;	600-611	94	59	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18777771	18777771	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	30	186	0	ENST00000380548.4:c.3544G>A	p.Val1182Ile	p.V1182I	ENST00000380548	NM_001040272.5	1182	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS47954.1	3544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGTCACC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	.	.	ENSP00000369921	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	tolerated(0.44)	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Val1182Ile,ENST00000380548,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	3883	186	174	SUCCESS
APBA1	320	.	GRCh37	9	72131731	72131731	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	53	0	ENST00000265381.4:c.396G>A	p.Gln132=	p.Q132=	ENST00000265381	NM_001163.3	132	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS6630.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCCTGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	.	.	ENSP00000265381	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,synonymous_variant,p.%3D,ENST00000265381,;	619	53	24	SUCCESS
FGD3	89846	.	GRCh37	9	95738644	95738644	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	152	1	ENST00000337352.6:c.106C>T	p.Pro36Ser	p.P36S	ENST00000337352	NM_033086.2	36	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43849.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCCTGTT	NONE	.	.	hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673	.	.	ENSP00000364631	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated_low_confidence(0.08)	.	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,missense_variant,p.Pro36Ser,ENST00000416701,;FGD3,missense_variant,p.Pro36Ser,ENST00000375482,;FGD3,missense_variant,p.Pro36Ser,ENST00000337352,;FGD3,non_coding_transcript_exon_variant,,ENST00000468206,;FGD3,non_coding_transcript_exon_variant,,ENST00000494669,;FGD3,missense_variant,p.Pro36Ser,ENST00000467786,;	602	153	110	SUCCESS
PTCH1	5727	.	GRCh37	9	98231224	98231224	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374691153	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	143	1	ENST00000331920.6:c.2059G>T	p.Val687Leu	p.V687L	ENST00000331920	NM_000264.3	687	Gtg/Ttg	0	T:0.0005	T:0.0008	.	T:0	.	A	V/L	protein_coding	YES	CCDS6714.1	2059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACAGAGA	BUFFER|p.P689H|c.2066C>A|3,BUFFER|p.P689H|c.2066C>A|3,BUFFER|p.P688H|c.2063C>A|3,BUFFER|p.P688H|c.2063C>A|3,BUFFER|p.Q687R|c.2060A>G|3,BUFFER|p.Q688R|c.2063A>G|3,BUFFER|p.Q688R|c.2063A>G|3,BUFFER|p.Q687R|c.2060A>G|3	byCluster|by1000G	.	TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796:SF61,hmmpanther:PTHR10796	T:0	T:0	ENSP00000332353	T:0	14/24	.	.	.	.	.	.	.	.	rs374691153	14/24	PASS	ENST00000331920	Transcript	.	T:0.0002	ENSG00000185920	9585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	T:0	tolerated(0.33)	.	PTC1_HUMAN	PTCH1	HGNC	Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN	.	UPI00001AFF9C	SNV	PTCH1,missense_variant,p.Val686Leu,ENST00000375274,;PTCH1,missense_variant,p.Val687Leu,ENST00000331920,;PTCH1,missense_variant,p.Val621Leu,ENST00000430669,;PTCH1,missense_variant,p.Val536Leu,ENST00000418258,;PTCH1,missense_variant,p.Val536Leu,ENST00000429896,;PTCH1,missense_variant,p.Val536Leu,ENST00000421141,;PTCH1,missense_variant,p.Val352Leu,ENST00000375271,;PTCH1,missense_variant,p.Val621Leu,ENST00000437951,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,non_coding_transcript_exon_variant,,ENST00000549678,;	2359	144	126	SUCCESS
MAMLD1	10046	.	GRCh37	X	149671633	149671633	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	121	377	0	ENST00000262858.5:c.2130G>C	p.Gly710=	p.G710=	ENST00000262858	NM_005491.3	710	ggG/ggC	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55526.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAGTGA	NONE	.	.	.	.	.	ENSP00000414517	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000432680	Transcript	.	.	ENSG00000013619	2568	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAMD1_HUMAN	MAMLD1	HGNC	Q6ZUZ1_HUMAN	.	UPI00017A6EBC	SNV	MAMLD1,synonymous_variant,p.%3D,ENST00000426613,;MAMLD1,synonymous_variant,p.%3D,ENST00000262858,;MAMLD1,synonymous_variant,p.%3D,ENST00000455522,;MAMLD1,synonymous_variant,p.%3D,ENST00000370401,;MAMLD1,intron_variant,,ENST00000432680,;	.	378	330	SUCCESS
L1CAM	3897	.	GRCh37	X	153135689	153135689	+	synonymous_variant	Silent	SNP	C	C	A	rs201381558	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	26	124	0	ENST00000370060.1:c.813G>T	p.Thr271=	p.T271=	ENST00000370060	NM_001278116.1	271	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14733.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGTGGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	9/29	.	.	.	.	.	.	.	.	rs201381558	9/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,synonymous_variant,p.%3D,ENST00000538883,;L1CAM,synonymous_variant,p.%3D,ENST00000370055,;L1CAM,synonymous_variant,p.%3D,ENST00000361981,;L1CAM,synonymous_variant,p.%3D,ENST00000543994,;L1CAM,synonymous_variant,p.%3D,ENST00000370057,;L1CAM,synonymous_variant,p.%3D,ENST00000370060,;L1CAM,synonymous_variant,p.%3D,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000484652,;L1CAM,downstream_gene_variant,,ENST00000460553,;	1003	124	97	SUCCESS
GNL3L	54552	.	GRCh37	X	54566597	54566597	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	88	314	0	ENST00000336470.4:c.111C>A	p.Thr37=	p.T37=	ENST00000336470	NM_019067.5	37	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14360.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACCTCCAA	NONE	.	.	hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF27	.	.	ENSP00000338573	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000336470	Transcript	.	.	ENSG00000130119	25553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNL3L_HUMAN	GNL3L	HGNC	.	.	UPI000006CF81	SNV	GNL3L,synonymous_variant,p.%3D,ENST00000360845,;GNL3L,synonymous_variant,p.%3D,ENST00000336470,;GNL3L,non_coding_transcript_exon_variant,,ENST00000489691,;	250	314	261	SUCCESS
ATRX	546	.	GRCh37	X	76938217	76938217	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139131007	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	12	0	ENST00000373344.5:c.2531C>T	p.Thr844Ile	p.T844I	ENST00000373344	NM_000489.3	844	aCa/aTa	0	T:0.001	.	.	.	.	A	T/I	protein_coding	YES	CCDS14434.1	2531	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGTATTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	T:0	ENSP00000362441	.	9/35	.	.	.	.	.	.	.	.	rs139131007	9/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,missense_variant,p.Thr806Ile,ENST00000395603,;ATRX,missense_variant,p.Thr844Ile,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;	2746	12	14	SUCCESS
PNLIPRP1	5407	.	GRCh37	10	118351933	118351933	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	78	0	ENST00000358834.4:c.210C>T	p.Leu70=	p.L70=	ENST00000358834	NM_006229.2	70	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7595.1	210	MUTECT|MUSE	.	ATTCTCCTCCT	NONE	.	.	hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000433933	.	4/13	.	.	.	.	.	.	.	.	.	4/13	nonpreferredpair	ENST00000528052	Transcript	.	.	ENSG00000187021	9156	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPR1_HUMAN	PNLIPRP1	HGNC	E9PR20_HUMAN,E9PMA6_HUMAN	.	UPI000012E6AA	SNV	PNLIPRP1,synonymous_variant,p.%3D,ENST00000534537,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000471549,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000531984,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000358834,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000528052,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000527980,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000530319,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000442761,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525157,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000480870,;PNLIPRP1,upstream_gene_variant,,ENST00000510125,;PNLIPRP1,synonymous_variant,p.%3D,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000470678,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000482159,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,upstream_gene_variant,,ENST00000482833,;PNLIPRP1,downstream_gene_variant,,ENST00000530626,;	281	78	65	SUCCESS
PCDH15	65217	.	GRCh37	10	55591092	55591092	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	180	0	ENST00000320301.6:c.4185T>C	p.Val1395=	p.V1395=	ENST00000320301	NM_033056.3	1395	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44404.1	4185	RADIA|MUTECT|MUSE	.	ACCAAAACCAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000354950	.	30/34	.	.	.	.	.	.	.	.	.	30/34	nonpreferredpair	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000409834,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395438,;PCDH15,synonymous_variant,p.%3D,ENST00000414778,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,synonymous_variant,p.%3D,ENST00000373965,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;	4580	180	104	SUCCESS
RTKN2	219790	.	GRCh37	10	64022532	64022532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	70	0	ENST00000373789.3:c.109G>A	p.Gly37Arg	p.G37R	ENST00000373789	NM_145307.2	37	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS7263.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCCTTCTC	NONE	.	.	SMART_domains:SM00742,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF21	.	.	ENSP00000362894	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,missense_variant,p.Gly37Arg,ENST00000373789,;RTKN2,missense_variant,p.Gly37Arg,ENST00000395265,;RTKN2,missense_variant,p.Gly37Arg,ENST00000395260,;	206	70	38	SUCCESS
RBP4	5950	.	GRCh37	10	95360550	95360550	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367834906	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	30	366	0	ENST00000371464.3:c.122C>T	p.Thr41Ile	p.T41I	ENST00000371464	NM_006744.3	41	aCc/aTc	0	A:0.0002	.	.	.	.	A	T/I	protein_coding	YES	CCDS31249.1	122	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTCCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11873,hmmpanther:PTHR11873:SF2,PROSITE_patterns:PS00213,Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036893,PIRSF_domain:PIRSF500204,Superfamily_domains:SSF50814,Prints_domain:PR01174,Prints_domain:PR00179	.	A:0	ENSP00000360522	.	3/6	.	.	.	.	.	.	.	.	rs367834906	3/6	nonpreferredpair	ENST00000371467	Transcript	1	.	ENSG00000138207	9922	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.16)	.	RET4_HUMAN	RBP4	HGNC	.	.	UPI0000044958	SNV	RBP4,missense_variant,p.Thr41Ile,ENST00000371464,;RBP4,missense_variant,p.Thr39Ile,ENST00000371469,;RBP4,missense_variant,p.Thr41Ile,ENST00000371467,;FFAR4,intron_variant,,ENST00000604414,;	442	366	184	SUCCESS
OR5M8	219484	.	GRCh37	11	56258001	56258001	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	27	0	ENST00000327216.2:c.846T>A	p.Pro282=	p.P282=	ENST00000327216	NM_001005282.1	282	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31533.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATAGGGAT	NONE	.	.	Prints_domain:PR00245,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF146,hmmpanther:PTHR26452,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000323354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000327216	Transcript	.	.	ENSG00000181371	14846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5M8_HUMAN	OR5M8	HGNC	.	.	UPI00000405CC	SNV	OR5M8,synonymous_variant,p.%3D,ENST00000327216,;	871	27	41	SUCCESS
UBXN1	51035	.	GRCh37	11	62445539	62445539	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	72	0	ENST00000301935.5:c.342del	p.Glu114AspfsTer45	p.E114Dfs*45	ENST00000301935	NM_001286077.1	114	gaA/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS8029.1	342	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCCGTTCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13020	.	.	ENSP00000294119	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000294119	Transcript	.	.	ENSG00000162191	18402	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBXN1_HUMAN	UBXN1	HGNC	.	.	UPI000006DE59	deletion	UBXN1,frameshift_variant,p.Glu114AspfsTer45,ENST00000294119,;UBXN1,frameshift_variant,p.Glu114AspfsTer45,ENST00000301935,;UBXN1,frameshift_variant,p.Glu114AspfsTer45,ENST00000534176,;UBXN1,frameshift_variant,p.Glu114AspfsTer109,ENST00000529640,;C11orf83,downstream_gene_variant,,ENST00000531323,;C11orf83,downstream_gene_variant,,ENST00000377953,;UBXN1,upstream_gene_variant,,ENST00000533000,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525004,;UBXN1,non_coding_transcript_exon_variant,,ENST00000524762,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000528907,;UBXN1,non_coding_transcript_exon_variant,,ENST00000527421,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525717,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533908,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000526919,;UBXN1,downstream_gene_variant,,ENST00000531625,;UBXN1,downstream_gene_variant,,ENST00000531056,;UBXN1,downstream_gene_variant,,ENST00000436354,;	474	72	80	SUCCESS
CTTN	2017	.	GRCh37	11	70269063	70269063	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1022387444	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	127	426	1	ENST00000301843.8:c.919G>A	p.Gly307Ser	p.G307S	ENST00000301843	NM_005231.3	307	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS53676.1	808	RADIA|SOMATICSNIPER|VARSCANS	.	GATTCGGCGGG	NONE	.	.	PROSITE_profiles:PS51090,hmmpanther:PTHR10829:SF15,hmmpanther:PTHR10829,Pfam_domain:PF02218	.	.	ENSP00000365745	.	11/19	.	.	.	.	.	.	.	.	.	11/19	nonpreferredpair	ENST00000376561	Transcript	.	.	ENSG00000085733	3338	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	SRC8_HUMAN	CTTN	HGNC	E9PP90_HUMAN,E9PKG3_HUMAN,B4E358_HUMAN	.	UPI000006E3C2	SNV	CTTN,missense_variant,p.Gly270Ser,ENST00000376561,;CTTN,missense_variant,p.Gly307Ser,ENST00000301843,;CTTN,missense_variant,p.Gly270Ser,ENST00000346329,;CTTN,5_prime_UTR_variant,,ENST00000498223,;CTTN,5_prime_UTR_variant,,ENST00000538675,;CTTN,5_prime_UTR_variant,,ENST00000527962,;CTTN,downstream_gene_variant,,ENST00000415461,;CTTN,synonymous_variant,p.%3D,ENST00000393747,;CTTN,non_coding_transcript_exon_variant,,ENST00000525852,;CTTN,downstream_gene_variant,,ENST00000483662,;CTTN,downstream_gene_variant,,ENST00000532334,;	979	428	326	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73020363	73020363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	48	196	0	ENST00000263674.3:c.680C>A	p.Ala227Asp	p.A227D	ENST00000263674	NM_014786.3	227	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS8221.1	680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCCCGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	.	1/21	nonpreferredpair	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	tolerated_low_confidence(0.08)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Ala227Asp,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,non_coding_transcript_exon_variant,,ENST00000546324,;	1030	197	122	SUCCESS
STAB2	55576	.	GRCh37	12	104136328	104136328	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	10	264	0	ENST00000388887.2:c.6027T>A	p.Cys2009Ter	p.C2009*	ENST00000388887	NM_017564.9	2009	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS31888.1	6027	MUTECT|MUSE	.	GATTGTCTGCG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01248,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00180	.	.	ENSP00000373539	.	56/69	.	.	.	.	.	.	.	.	.	56/69	nonpreferredpair	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,stop_gained,p.Cys2009Ter,ENST00000388887,;RP11-341G23.4,downstream_gene_variant,,ENST00000551299,;	6231	264	173	SUCCESS
TMPO	7112	.	GRCh37	12	98909627	98909627	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs774144418	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	6	173	0	ENST00000266732.4:c.-19G>A		p.*7*	ENST00000266732	NM_003276.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9064.1	.	MUTECT|MUSE	.	GAGGGGGCTTC	NONE	.	.	.	.	.	ENSP00000266732	.	1/4	.	.	.	.	.	.	.	.	rs774144418	1/4	nonpreferredpair	ENST00000266732	Transcript	.	.	ENSG00000120802	11875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAP2A_HUMAN	TMPO	HGNC	.	.	UPI000013D709	SNV	TMPO,5_prime_UTR_variant,,ENST00000393053,;TMPO,5_prime_UTR_variant,,ENST00000556029,;TMPO,5_prime_UTR_variant,,ENST00000343315,;TMPO,5_prime_UTR_variant,,ENST00000266732,;TMPO,upstream_gene_variant,,ENST00000261210,;TMPO-AS1,non_coding_transcript_exon_variant,,ENST00000546421,;TMPO-AS1,non_coding_transcript_exon_variant,,ENST00000548760,;TMPO,intron_variant,,ENST00000548911,;TMPO,intron_variant,,ENST00000546828,;TMPO,upstream_gene_variant,,ENST00000549938,;	220	173	110	SUCCESS
METTL21C	196541	.	GRCh37	13	103343267	103343267	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	116	0	ENST00000267273.6:c.178C>A	p.Pro60Thr	p.P60T	ENST00000267273	NM_001010977.2	60	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32003.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGAACAA	NONE	.	.	hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614	.	.	ENSP00000267273	.	2/4	.	.	.	.	.	.	.	.	COSM378187	2/4	nonpreferredpair	ENST00000267273	Transcript	.	.	ENSG00000139780	33717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.874)	.	deleterious(0)	1	MT21C_HUMAN	METTL21C	HGNC	.	.	UPI000016196F	SNV	METTL21C,missense_variant,p.Pro60Thr,ENST00000267273,;	184	116	111	SUCCESS
FREM2	341640	.	GRCh37	13	39264849	39264849	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	33	0	ENST00000280481.7:c.3368G>A	p.Gly1123Asp	p.G1123D	ENST00000280481	NM_207361.4	1123	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31960.1	3368	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGCTCTG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	nonpreferredpair	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Gly1123Asp,ENST00000280481,;	3584	33	47	SUCCESS
PIBF1	10464	.	GRCh37	13	73468073	73468073	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	112	0	ENST00000326291.6:c.1474C>A	p.Gln492Lys	p.Q492K	ENST00000326291	NM_006346.2	492	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31991.1	1474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATCAGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18950:SF0,hmmpanther:PTHR18950	.	.	ENSP00000317144	.	11/18	.	.	.	.	.	.	.	.	.	11/18	nonpreferredpair	ENST00000326291	Transcript	.	.	ENSG00000083535	23352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.05)	.	PIBF1_HUMAN	PIBF1	HGNC	.	.	UPI00001418B9	SNV	PIBF1,missense_variant,p.Gln492Lys,ENST00000326291,;PIBF1,downstream_gene_variant,,ENST00000486330,;	1812	112	101	SUCCESS
LRR1	122769	.	GRCh37	14	50074175	50074175	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1265822801	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	51	0	ENST00000298288.6:c.340T>A	p.Cys114Ser	p.C114S	ENST00000298288	NM_152329.3	114	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS9686.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGTAAT	NONE	.	.	Superfamily_domains:SSF52058	.	.	ENSP00000298288	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000298288	Transcript	.	.	ENSG00000165501	19742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.74)	.	LLR1_HUMAN	LRR1	HGNC	.	.	UPI000013E4BC	SNV	LRR1,missense_variant,p.Cys114Ser,ENST00000298288,;LRR1,intron_variant,,ENST00000318317,;LRR1,non_coding_transcript_exon_variant,,ENST00000557531,;LRR1,3_prime_UTR_variant,,ENST00000540712,;LRR1,3_prime_UTR_variant,,ENST00000554869,;	664	51	57	SUCCESS
SPTB	6710	.	GRCh37	14	65252575	65252575	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs368552247	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	66	0	ENST00000389721.5:c.3656A>G	p.Asn1219Ser	p.N1219S	ENST00000389721	NM_000347.5	1219	aAc/aGc	0	C:0.0002	.	.	.	.	C	N/S	protein_coding	YES	CCDS32099.1	3656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTTCTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002297	.	C:0	ENSP00000374372	.	16/35	.	.	.	.	.	.	.	.	rs368552247	16/35	nonpreferredpair	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,missense_variant,p.Asn1219Ser,ENST00000389721,;SPTB,missense_variant,p.Asn1219Ser,ENST00000556626,;SPTB,missense_variant,p.Asn1219Ser,ENST00000389722,;SPTB,missense_variant,p.Asn1219Ser,ENST00000542895,;SPTB,missense_variant,p.Asn1219Ser,ENST00000389720,;SPTB,upstream_gene_variant,,ENST00000553938,;	3710	66	50	SUCCESS
VSX2	338917	.	GRCh37	14	74706315	74706315	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	109	0	ENST00000261980.2:c.51G>A	p.Val17=	p.V17=	ENST00000261980	NM_182894.2	17	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9827.1	51	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGGCCAA	NONE	.	.	.	.	.	ENSP00000261980	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000261980	Transcript	.	.	ENSG00000119614	1975	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VSX2_HUMAN	VSX2	HGNC	.	.	UPI0000128755	SNV	VSX2,synonymous_variant,p.%3D,ENST00000261980,;	141	109	60	SUCCESS
MGA	23269	.	GRCh37	15	41988802	41988802	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	63	0	ENST00000219905.7:c.1594A>T	p.Lys532Ter	p.K532*	ENST00000219905	NM_001164273.1	532	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS55959.1	1594	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAAAACAT	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	3/24	.	.	.	.	.	.	.	.	.	3/24	nonpreferredpair	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,stop_gained,p.Lys532Ter,ENST00000219905,;MGA,stop_gained,p.Lys532Ter,ENST00000563576,;MGA,stop_gained,p.Lys532Ter,ENST00000570161,;MGA,stop_gained,p.Lys532Ter,ENST00000545763,;MGA,stop_gained,p.Lys532Ter,ENST00000389936,;MGA,stop_gained,p.Lys532Ter,ENST00000566718,;MGA,stop_gained,p.Lys532Ter,ENST00000566586,;MIR626,downstream_gene_variant,,ENST00000385032,;MGA,downstream_gene_variant,,ENST00000568630,;	1775	63	73	SUCCESS
LDHAL6B	92483	.	GRCh37	15	59499173	59499173	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	142	0	ENST00000307144.4:c.34C>A	p.Gln12Lys	p.Q12K	ENST00000307144	NM_033195.2	12	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS10171.1	34	RADIA|MUTECT|MUSE	.	CCAGCCAGAGA	NONE	.	.	.	.	.	ENSP00000302393	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000307144	Transcript	.	.	ENSG00000171989	21481	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated_low_confidence(0.62)	.	LDH6B_HUMAN	LDHAL6B	HGNC	.	.	UPI000012E326	SNV	LDHAL6B,missense_variant,p.Gln12Lys,ENST00000307144,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,intron_variant,,ENST00000560749,;MYO1E,intron_variant,,ENST00000288235,;MYO1E,downstream_gene_variant,,ENST00000559489,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,intron_variant,,ENST00000560642,;	132	142	99	SUCCESS
NTRK3	4916	.	GRCh37	15	88423567	88423567	+	synonymous_variant	Silent	SNP	G	G	A	rs79813886	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	33	106	0	ENST00000360948.2:c.2268C>T	p.Phe756=	p.F756=	ENST00000360948	NM_001012338.2	756	ttC/ttT	0	A:0	A:0	.	A:0	.	A	F	protein_coding	YES	CCDS32322.1	2268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGAAGCT	NONE	byFrequency|byCluster|by1000G	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	A:0.001	A:0.0001	ENSP00000354207	A:0	18/19	.	.	.	.	.	.	.	.	rs79813886,COSM390501,COSM390500	18/19	nonpreferredpair	ENST00000360948	Transcript	1	A:0.0004	ENSG00000140538	8033	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	A:0.001	.	0,1,1	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,synonymous_variant,p.%3D,ENST00000357724,;NTRK3,synonymous_variant,p.%3D,ENST00000557856,;NTRK3,synonymous_variant,p.%3D,ENST00000394480,;NTRK3,synonymous_variant,p.%3D,ENST00000355254,;NTRK3,synonymous_variant,p.%3D,ENST00000360948,;	2430	106	71	SUCCESS
MYH11	4629	.	GRCh37	16	15853534	15853534	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375276152	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	169	0	ENST00000300036.5:c.1300C>T	p.Arg434Cys	p.R434C	ENST00000300036	NM_002474.2	434	Cgc/Tgc	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS45423.1	1321	MUTECT|MUSE	.	CCAGCGGAAAA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	A:0	ENSP00000379616	.	13/42	.	.	.	.	.	.	.	.	rs375276152	13/42	nonpreferredpair	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,missense_variant,p.Arg441Cys,ENST00000452625,;MYH11,missense_variant,p.Arg434Cys,ENST00000576790,;MYH11,missense_variant,p.Arg434Cys,ENST00000300036,;MYH11,missense_variant,p.Arg441Cys,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	1409	169	161	SUCCESS
ATXN2L	11273	.	GRCh37	16	28846465	28846465	+	synonymous_variant	Silent	SNP	T	T	A	rs750802207	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	240	0	ENST00000336783.4:c.2520T>A	p.Pro840=	p.P840=	ENST00000336783	NM_007245.3	840	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10640.1	2520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTCAGTA	NONE	.	.	hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8	.	.	ENSP00000378917	.	19/24	.	.	.	.	.	.	.	.	rs750802207	19/24	nonpreferredpair	ENST00000395547	Transcript	.	.	ENSG00000168488	31326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATX2L_HUMAN	ATXN2L	HGNC	H3BSQ5_HUMAN	.	UPI000016783F	SNV	ATXN2L,synonymous_variant,p.%3D,ENST00000395547,;ATXN2L,synonymous_variant,p.%3D,ENST00000336783,;ATXN2L,synonymous_variant,p.%3D,ENST00000382686,;ATXN2L,synonymous_variant,p.%3D,ENST00000325215,;ATXN2L,synonymous_variant,p.%3D,ENST00000570200,;ATXN2L,synonymous_variant,p.%3D,ENST00000569318,;ATXN2L,synonymous_variant,p.%3D,ENST00000564304,;ATXN2L,synonymous_variant,p.%3D,ENST00000566946,;ATXN2L,synonymous_variant,p.%3D,ENST00000340394,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000567024,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,synonymous_variant,p.%3D,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000561732,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000562686,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000564035,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000564284,;	2687	240	101	SUCCESS
HIRIP3	8479	.	GRCh37	16	30005727	30005728	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	59	0	ENST00000279392.3:c.738dup	p.Glu247ArgfsTer6	p.E247Rfs*6	ENST00000279392	NM_003609.4	246	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS10664.1	738-739	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTCTTCCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15410,hmmpanther:PTHR15410:SF2	.	.	ENSP00000279392	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000279392	Transcript	.	.	ENSG00000149929	4917	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HIRP3_HUMAN	HIRIP3	HGNC	B3KQL0_HUMAN	.	UPI000013DBC9	insertion	HIRIP3,frameshift_variant,p.Glu247ArgfsTer6,ENST00000279392,;HIRIP3,intron_variant,,ENST00000564026,;INO80E,upstream_gene_variant,,ENST00000563197,;TAOK2,downstream_gene_variant,,ENST00000279394,;INO80E,upstream_gene_variant,,ENST00000567254,;INO80E,upstream_gene_variant,,ENST00000304516,;INO80E,upstream_gene_variant,,ENST00000567705,;HIRIP3,downstream_gene_variant,,ENST00000566471,;INO80E,upstream_gene_variant,,ENST00000563040,;HIRIP3,intron_variant,,ENST00000563680,;HIRIP3,intron_variant,,ENST00000563053,;INO80E,upstream_gene_variant,,ENST00000567987,;INO80E,upstream_gene_variant,,ENST00000568043,;HIRIP3,downstream_gene_variant,,ENST00000568880,;INO80E,upstream_gene_variant,,ENST00000540562,;TAOK2,downstream_gene_variant,,ENST00000570844,;INO80E,upstream_gene_variant,,ENST00000569957,;INO80E,upstream_gene_variant,,ENST00000567065,;INO80E,upstream_gene_variant,,ENST00000380503,;HIRIP3,downstream_gene_variant,,ENST00000565996,;INO80E,upstream_gene_variant,,ENST00000562441,;	1569-1570	59	67	SUCCESS
OR1F1	4992	.	GRCh37	16	3254987	3254987	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	228	0	ENST00000304646.2:c.741G>A	p.Val247=	p.V247=	ENST00000304646	NM_012360.1	247	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10496.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGTTCT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF304,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000305424	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000304646	Transcript	.	.	ENSG00000168124	8194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1F1_HUMAN	OR1F1	HGNC	.	.	UPI00000015B4	SNV	OR1F1,synonymous_variant,p.%3D,ENST00000304646,;AJ003147.9,intron_variant,,ENST00000576468,;	741	228	146	SUCCESS
SIAH1	6477	.	GRCh37	16	48396330	48396330	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	64	243	0	ENST00000380006.2:c.10C>T	p.Gln4Ter	p.Q4*	ENST00000380006		4	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS32444.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTGACGGC	NONE	.	.	hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23	.	.	ENSP00000349156	.	2/2	.	.	.	.	.	.	.	.	COSM435307,COSM435306	2/2	nonpreferredpair	ENST00000356721	Transcript	.	.	ENSG00000196470	10857	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SIAH1_HUMAN	SIAH1	HGNC	H3BU09_HUMAN	.	UPI0000074729	SNV	SIAH1,stop_gained,p.Gln4Ter,ENST00000380006,;SIAH1,stop_gained,p.Gln4Ter,ENST00000394725,;SIAH1,stop_gained,p.Gln35Ter,ENST00000356721,;SIAH1,stop_gained,p.Gln4Ter,ENST00000563745,;LONP2,3_prime_UTR_variant,,ENST00000565867,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,downstream_gene_variant,,ENST00000573005,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,stop_gained,p.Gln4Ter,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,downstream_gene_variant,,ENST00000565185,;	527	243	169	SUCCESS
DOK4	55715	.	GRCh37	16	57507494	57507494	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	6	190	0	ENST00000340099.4:c.862+31G>C		p.*288*	ENST00000340099	NM_018110.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10783.1	.	MUTECT|MUSE	.	CCTGGCAGGTG	NONE	.	.	.	.	.	ENSP00000344277	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000340099	Transcript	.	.	ENSG00000125170	19868	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOK4_HUMAN	DOK4	HGNC	H3BVB4_HUMAN,H3BV67_HUMAN,H3BTK2_HUMAN,H3BTI7_HUMAN,H3BTI4_HUMAN,H3BSK0_HUMAN,H3BS85_HUMAN,H3BPY9_HUMAN,H3BN90_HUMAN	.	UPI0000070AA4	SNV	DOK4,missense_variant,p.Cys298Ser,ENST00000566936,;DOK4,intron_variant,,ENST00000340099,;DOK4,intron_variant,,ENST00000569548,;POLR2C,downstream_gene_variant,,ENST00000219252,;DOK4,downstream_gene_variant,,ENST00000566588,;DOK4,downstream_gene_variant,,ENST00000564378,;DOK4,downstream_gene_variant,,ENST00000562737,;DOK4,downstream_gene_variant,,ENST00000567276,;DOK4,downstream_gene_variant,,ENST00000569010,;DOK4,downstream_gene_variant,,ENST00000569538,;DOK4,downstream_gene_variant,,ENST00000567175,;DOK4,downstream_gene_variant,,ENST00000562008,;DOK4,downstream_gene_variant,,ENST00000569250,;DOK4,downstream_gene_variant,,ENST00000568617,;DOK4,downstream_gene_variant,,ENST00000566705,;DOK4,downstream_gene_variant,,ENST00000567214,;DOK4,downstream_gene_variant,,ENST00000561918,;POLR2C,downstream_gene_variant,,ENST00000564651,;DOK4,downstream_gene_variant,,ENST00000563483,;POLR2C,downstream_gene_variant,,ENST00000563589,;POLR2C,downstream_gene_variant,,ENST00000563115,;DOK4,downstream_gene_variant,,ENST00000561659,;POLR2C,downstream_gene_variant,,ENST00000567982,;POLR2C,downstream_gene_variant,,ENST00000562953,;POLR2C,downstream_gene_variant,,ENST00000562599,;	.	190	112	SUCCESS
CDH1	999	.	GRCh37	16	68842624	68842624	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	49	0	ENST00000261769.5:c.560A>G	p.Lys187Arg	p.K187R	ENST00000261769	NM_004360.3	187	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS10869.1	560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAAGGTTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261769	.	5/16	.	.	.	.	.	.	.	.	.	5/16	nonpreferredpair	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.1)	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,missense_variant,p.Lys187Arg,ENST00000422392,;CDH1,missense_variant,p.Lys187Arg,ENST00000261769,;CDH1,non_coding_transcript_exon_variant,,ENST00000564676,;CDH1,non_coding_transcript_exon_variant,,ENST00000564745,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,missense_variant,p.Lys110Arg,ENST00000561751,;CDH1,missense_variant,p.Lys187Arg,ENST00000566612,;CDH1,non_coding_transcript_exon_variant,,ENST00000567320,;CDH1,intron_variant,,ENST00000566510,;CDH1,upstream_gene_variant,,ENST00000565810,;	751	49	51	SUCCESS
GRAP	10750	.	GRCh37	17	18945119	18945119	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1362470152	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	21	0	ENST00000284154.5:c.176+1G>A		p.X59_splice	ENST00000284154	NM_006613.3	59		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11202.1	.	RADIA|VARSCANS	.	ACTCACGGATG	NONE	.	.	.	.	.	ENSP00000284154	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000284154	Transcript	.	.	ENSG00000154016	4562	.	.	HIGH	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRAP_HUMAN	GRAP	HGNC	K7EKU7_HUMAN,A8MW78_HUMAN	.	UPI000012BA7E	SNV	GRAP,splice_donor_variant,,ENST00000395635,;GRAP,splice_donor_variant,,ENST00000573099,;GRAP,splice_donor_variant,,ENST00000284154,;GRAP,splice_donor_variant,,ENST00000571380,;GRAP,splice_donor_variant,,ENST00000583020,;	.	21	46	SUCCESS
KIAA0100	9703	.	GRCh37	17	26962490	26962490	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	7	346	0	ENST00000528896.2:c.2115A>G	p.Ala705=	p.A705=	ENST00000528896	NM_014680.3	705	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS32595.1	2115	MUTECT|MUSE	.	TCTAGTGCAAG	NONE	.	.	hmmpanther:PTHR15678	.	.	ENSP00000436773	.	16/39	.	.	.	.	.	.	.	.	.	16/39	nonpreferredpair	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,synonymous_variant,p.%3D,ENST00000544884,;KIAA0100,synonymous_variant,p.%3D,ENST00000389003,;KIAA0100,synonymous_variant,p.%3D,ENST00000528896,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,non_coding_transcript_exon_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000579253,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,downstream_gene_variant,,ENST00000581267,;	2190	346	246	SUCCESS
NF1	4763	.	GRCh37	17	29665760	29665760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	319	13	363	0	ENST00000358273.4:c.6858C>A	p.Asn2286Lys	p.N2286K	ENST00000358273	NM_001042492.2	2286	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS42292.1	6858	MUTECT|MUSE	.	TACAACAGTCA	BUFFER|p.Y2285fs*5|c.6852_6855delTTAC|5	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	46/58	.	.	.	.	.	.	.	.	.	46/58	nonpreferredpair	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Asn79Lys,ENST00000444181,;NF1,missense_variant,p.Asn2286Lys,ENST00000358273,;NF1,missense_variant,p.Asn1931Lys,ENST00000456735,;NF1,missense_variant,p.Asn2265Lys,ENST00000356175,;NF1,intron_variant,,ENST00000417592,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,missense_variant,p.Asn81Lys,ENST00000471572,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000584328,;NF1,intron_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000582892,;	7241	363	332	SUCCESS
GAS2L2	246176	.	GRCh37	17	34079749	34079749	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782798675	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	13	312	0	ENST00000254466.6:c.121T>A	p.Trp41Arg	p.W41R	ENST00000254466	NM_139285.3	41	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS11298.1	121	MUTECT|MUSE	.	AAGCCACTCAG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000254466	.	1/6	.	.	.	.	.	.	.	.	rs782798675	1/6	nonpreferredpair	ENST00000254466	Transcript	.	.	ENSG00000132139	24846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GA2L2_HUMAN	GAS2L2	HGNC	.	.	UPI0000061E50	SNV	GAS2L2,missense_variant,p.Trp41Arg,ENST00000587565,;GAS2L2,missense_variant,p.Trp41Arg,ENST00000254466,;MMP28,downstream_gene_variant,,ENST00000587687,;RP1-161P9.5,downstream_gene_variant,,ENST00000591202,;MMP28,downstream_gene_variant,,ENST00000587639,;	149	312	168	SUCCESS
MLLT6	4302	.	GRCh37	17	36876674	36876674	+	synonymous_variant	Silent	SNP	G	G	A	rs747291965	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	152	0	ENST00000325718.7:c.2205G>A	p.Arg735=	p.R735=	ENST00000325718	NM_005937.3	735	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11327.1	2205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCTGCA	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF82,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000316426	.	15/20	.	.	.	.	.	.	.	.	rs747291965	15/20	nonpreferredpair	ENST00000325718	Transcript	.	.	ENSG00000108292	7138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF17_HUMAN	MLLT6	HGNC	.	.	UPI000013C86A	SNV	MLLT6,synonymous_variant,p.%3D,ENST00000325718,;MLLT6,synonymous_variant,p.%3D,ENST00000471200,;MIR4726,downstream_gene_variant,,ENST00000577947,;CTB-58E17.9,upstream_gene_variant,,ENST00000579499,;MLLT6,non_coding_transcript_exon_variant,,ENST00000494578,;MLLT6,downstream_gene_variant,,ENST00000466997,;MLLT6,downstream_gene_variant,,ENST00000578946,;MLLT6,upstream_gene_variant,,ENST00000484263,;MLLT6,downstream_gene_variant,,ENST00000433891,;	2296	152	103	SUCCESS
KRT39	390792	.	GRCh37	17	39116562	39116562	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	41	0	ENST00000355612.2:c.1188C>T	p.Tyr396=	p.Y396=	ENST00000355612	NM_213656.3	396	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11382.1	1188	MUTECT|MUSE	.	CTGCGGTATGT	BUFFER|p.R397C|c.1189C>T|3	.	.	hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239,PROSITE_patterns:PS00226,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000347823	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000355612	Transcript	.	.	ENSG00000196859	32971	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1C39_HUMAN	KRT39	HGNC	J3QRE9_HUMAN	.	UPI0000237913	SNV	KRT39,synonymous_variant,p.%3D,ENST00000355612,;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,non_coding_transcript_exon_variant,,ENST00000578029,;	1224	41	33	SUCCESS
MAPT	4137	.	GRCh37	17	44060964	44060964	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	83	0	ENST00000262410.5:c.794T>A	p.Ile265Asn	p.I265N	ENST00000262410	NM_016835.4	265	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS45715.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATCCCCC	NONE	.	.	hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF14	.	.	ENSP00000340820	.	6/15	.	.	.	.	.	.	.	.	.	6/15	nonpreferredpair	ENST00000344290	Transcript	.	.	ENSG00000186868	6893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	deleterious(0.04)	.	TAU_HUMAN	MAPT	HGNC	.	.	UPI0001AE66E9	SNV	MAPT,missense_variant,p.Ile265Asn,ENST00000262410,;MAPT,missense_variant,p.Ile265Asn,ENST00000571987,;MAPT,missense_variant,p.Ile265Asn,ENST00000415613,;MAPT,missense_variant,p.Ile265Asn,ENST00000344290,;MAPT,intron_variant,,ENST00000334239,;MAPT,intron_variant,,ENST00000340799,;MAPT,intron_variant,,ENST00000446361,;MAPT,intron_variant,,ENST00000574436,;MAPT,intron_variant,,ENST00000535772,;MAPT,intron_variant,,ENST00000576518,;MAPT,intron_variant,,ENST00000420682,;MAPT,intron_variant,,ENST00000351559,;MAPT,intron_variant,,ENST00000347967,;MAPT,intron_variant,,ENST00000431008,;MAPT,intron_variant,,ENST00000570299,;MAPT,upstream_gene_variant,,ENST00000577017,;MAPT,non_coding_transcript_exon_variant,,ENST00000576238,;MAPT,downstream_gene_variant,,ENST00000572440,;	1116	83	71	SUCCESS
DLG4	1742	.	GRCh37	17	7106786	7106786	+	synonymous_variant	Silent	SNP	C	C	T	rs201426589	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	3	75	1	ENST00000399506.2:c.462G>A	p.Pro154=	p.P154=	ENST00000399506		154	ccG/ccA	0	T:0.001	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS45599.1	591	MUTECT|MUSE	.	TCAGCCGGGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23119:SF4,hmmpanther:PTHR23119,Gene3D:2.30.42.10,PIRSF_domain:PIRSF001741	T:0	T:0.0013	ENSP00000382428	T:0.002	8/22	.	.	.	.	.	.	.	.	rs201426589	8/22	common_in_exac,nonpreferredpair	ENST00000399510	Transcript	.	T:0.0006	ENSG00000132535	2903	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	DLG4_HUMAN	DLG4	HGNC	Q3ZCU5_HUMAN,K7EKU8_HUMAN,K7EKP9_HUMAN,B9EGL1_HUMAN,B7Z647_HUMAN	.	UPI0000048D63	SNV	DLG4,synonymous_variant,p.%3D,ENST00000447163,;DLG4,synonymous_variant,p.%3D,ENST00000399506,;DLG4,synonymous_variant,p.%3D,ENST00000302955,;DLG4,synonymous_variant,p.%3D,ENST00000485100,;DLG4,synonymous_variant,p.%3D,ENST00000399510,;DLG4,synonymous_variant,p.%3D,ENST00000486626,;DLG4,synonymous_variant,p.%3D,ENST00000451807,;DLG4,downstream_gene_variant,,ENST00000493294,;	1444	76	66	SUCCESS
CDK3	1018	.	GRCh37	17	73998495	73998495	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	106	0	ENST00000425876.2:c.482A>G	p.His161Arg	p.H161R	ENST00000425876		161	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS11736.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCATGAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF173,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000410561	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000425876	Transcript	.	.	ENSG00000250506	1772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	CDK3_HUMAN	CDK3	HGNC	K7ELV5_HUMAN,K7EJ83_HUMAN	.	UPI0000113587	SNV	CDK3,missense_variant,p.His161Arg,ENST00000448471,;CDK3,missense_variant,p.His161Arg,ENST00000588812,;CDK3,missense_variant,p.His161Arg,ENST00000425876,;CDK3,missense_variant,p.His121Arg,ENST00000586261,;EVPL,downstream_gene_variant,,ENST00000589231,;EVPL,downstream_gene_variant,,ENST00000586740,;TEN1,downstream_gene_variant,,ENST00000588202,;EVPL,downstream_gene_variant,,ENST00000301607,;TEN1,downstream_gene_variant,,ENST00000416485,;TEN1,downstream_gene_variant,,ENST00000397640,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000587569,;	570	106	57	SUCCESS
SLC14A2	8170	.	GRCh37	18	43253729	43253729	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	5	173	0	ENST00000255226.6:c.2459G>A	p.Gly820Glu	p.G820E	ENST00000255226	NM_007163.3	820	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS11924.1	2459	MUTECT|MUSE	.	GATAGGAGGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2,Gene3D:1.10.3430.10,Pfam_domain:PF03253	.	.	ENSP00000255226	.	18/20	.	.	.	.	.	.	.	.	.	18/20	nonpreferredpair	ENST00000255226	Transcript	.	.	ENSG00000132874	10919	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UT2_HUMAN	SLC14A2	HGNC	.	.	UPI000013CE99	SNV	SLC14A2,missense_variant,p.Gly297Glu,ENST00000589658,;SLC14A2,missense_variant,p.Gly820Glu,ENST00000255226,;SLC14A2,missense_variant,p.Gly820Glu,ENST00000586448,;RP11-116O18.3,intron_variant,,ENST00000589510,;	3275	173	122	SUCCESS
ELAC1	55520	.	GRCh37	18	48510804	48510804	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	44	127	0	ENST00000269466.3:c.496C>A	p.Leu166Ile	p.L166I	ENST00000269466	NM_018696.2	166	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS11949.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTTCTG	NONE	.	.	HAMAP:MF_01818,hmmpanther:PTHR12553,Pfam_domain:PF12706,TIGRFAM_domain:TIGR02651,Gene3D:3.60.15.10	.	.	ENSP00000269466	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000269466	Transcript	.	.	ENSG00000141642	14197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.4)	.	RNZ1_HUMAN	ELAC1	HGNC	.	.	UPI000006F39C	SNV	ELAC1,missense_variant,p.Leu166Ile,ENST00000591429,;ELAC1,missense_variant,p.Leu166Ile,ENST00000269466,;SMAD4,intron_variant,,ENST00000452201,;ELAC1,intron_variant,,ENST00000588577,;RP11-729L2.2,intron_variant,,ENST00000588256,;RP11-729L2.2,intron_variant,,ENST00000590722,;	603	127	88	SUCCESS
SERPINB8	5271	.	GRCh37	18	61653503	61653503	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	74	0	ENST00000353706.2:c.721-605G>T		p.*241*	ENST00000353706	NM_002640.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11991.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGATGGATCTT	NONE	.	.	.	.	.	ENSP00000381072	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000397985	Transcript	.	.	ENSG00000166401	8952	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPB8_HUMAN	SERPINB8	HGNC	C9JVA8_HUMAN,C9JTJ8_HUMAN,B4DTW2_HUMAN	.	UPI000013C5F2	SNV	SERPINB8,3_prime_UTR_variant,,ENST00000397988,;SERPINB8,intron_variant,,ENST00000353706,;SERPINB8,intron_variant,,ENST00000397985,;SERPINB8,intron_variant,,ENST00000542677,;SERPINB8,intron_variant,,ENST00000295211,;SERPINB8,downstream_gene_variant,,ENST00000448851,;SERPINB8,downstream_gene_variant,,ENST00000441827,;SERPINB8,intron_variant,,ENST00000493661,;HMSD,downstream_gene_variant,,ENST00000481726,;	.	74	45	SUCCESS
RASGRP4	115727	.	GRCh37	19	38912649	38912649	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	72	0	ENST00000587738.1:c.168C>T	p.Cys56=	p.C56=	ENST00000587738		56	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46068.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTGCAGCC	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113:SF157,hmmpanther:PTHR23113	.	.	ENSP00000465772	.	2/17	.	.	.	.	.	.	.	.	.	2/17	nonpreferredpair	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,synonymous_variant,p.%3D,ENST00000454404,;RASGRP4,synonymous_variant,p.%3D,ENST00000426920,;RASGRP4,synonymous_variant,p.%3D,ENST00000586305,;RASGRP4,synonymous_variant,p.%3D,ENST00000293062,;RASGRP4,synonymous_variant,p.%3D,ENST00000587738,;RASGRP4,synonymous_variant,p.%3D,ENST00000587753,;RASGRP4,synonymous_variant,p.%3D,ENST00000433821,;RASGRP4,synonymous_variant,p.%3D,ENST00000589474,;RASGRP4,synonymous_variant,p.%3D,ENST00000589358,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,upstream_gene_variant,,ENST00000588708,;	239	72	74	SUCCESS
ZNF226	7769	.	GRCh37	19	44676265	44676265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	171	0	ENST00000337433.5:c.40G>T	p.Ala14Ser	p.A14S	ENST00000337433	NM_001032373.1	14	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46102.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGGCTGTG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000465121	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,missense_variant,p.Ala14Ser,ENST00000585560,;ZNF226,missense_variant,p.Ala14Ser,ENST00000586286,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590089,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588127,;ZNF226,missense_variant,p.Ala14Ser,ENST00000413984,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588742,;ZNF226,missense_variant,p.Ala14Ser,ENST00000589160,;ZNF226,missense_variant,p.Ala14Ser,ENST00000300823,;ZNF226,missense_variant,p.Ala14Ser,ENST00000337433,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590524,;ZNF226,missense_variant,p.Ala14Ser,ENST00000586203,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588883,;ZNF226,missense_variant,p.Ala14Ser,ENST00000586914,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590467,;ZNF226,missense_variant,p.Ala14Ser,ENST00000588795,;ZNF226,missense_variant,p.Ala14Ser,ENST00000454662,;ZNF226,missense_variant,p.Ala14Ser,ENST00000590578,;ZNF226,5_prime_UTR_variant,,ENST00000585678,;ZNF226,non_coding_transcript_exon_variant,,ENST00000590759,;	407	171	123	SUCCESS
NR1H2	7376	.	GRCh37	19	50881836	50881836	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs774586646	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	101	0	ENST00000253727.5:c.530C>A	p.Ser177Ter	p.S177*	ENST00000253727	NM_007121.5	177	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS42593.1	530	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGAGTCACAGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Gene3D:1.10.565.10,hmmpanther:PTHR24082:SF110,hmmpanther:PTHR24082	.	.	ENSP00000253727	.	6/10	.	.	.	.	.	.	.	.	rs774586646	6/10	nonpreferredpair	ENST00000253727	Transcript	.	.	ENSG00000131408	7965	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NR1H2_HUMAN	NR1H2	HGNC	M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN	.	UPI000013CDEE	SNV	NR1H2,stop_gained,p.Ser177Ter,ENST00000253727,;NR1H2,stop_gained,p.Ser80Ter,ENST00000411902,;NR1H2,stop_gained,p.Ser177Ter,ENST00000597130,;NR1H2,stop_gained,p.Ser177Ter,ENST00000598168,;NR1H2,stop_gained,p.Ser177Ter,ENST00000593926,;NR1H2,stop_gained,p.Ser177Ter,ENST00000599105,;NR1H2,stop_gained,p.Ser177Ter,ENST00000597157,;NR1H2,5_prime_UTR_variant,,ENST00000542413,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,missense_variant,p.His135Asn,ENST00000593532,;NR1H2,downstream_gene_variant,,ENST00000595730,;NR1H2,upstream_gene_variant,,ENST00000597085,;	765	101	56	SUCCESS
DUS3L	56931	.	GRCh37	19	5789643	5789643	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1164641504	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	50	114	0	ENST00000309061.7:c.475G>T	p.Gly159Cys	p.G159C	ENST00000309061	NM_020175.2	159	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS32880.1	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCCAGGT	NONE	.	.	.	.	.	ENSP00000311977	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000309061	Transcript	.	.	ENSG00000141994	26920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DUS3L_HUMAN	DUS3L	HGNC	D6W636_HUMAN	.	UPI0000140953	SNV	DUS3L,missense_variant,p.Gly159Cys,ENST00000309061,;DUS3L,3_prime_UTR_variant,,ENST00000592491,;DUS3L,intron_variant,,ENST00000320699,;PRR22,upstream_gene_variant,,ENST00000419421,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,upstream_gene_variant,,ENST00000590343,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590681,;DUS3L,3_prime_UTR_variant,,ENST00000585587,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,intron_variant,,ENST00000590110,;DUS3L,upstream_gene_variant,,ENST00000591560,;DUS3L,upstream_gene_variant,,ENST00000593229,;DUS3L,upstream_gene_variant,,ENST00000592468,;DUS3L,downstream_gene_variant,,ENST00000589854,;DUS3L,upstream_gene_variant,,ENST00000590087,;DUS3L,upstream_gene_variant,,ENST00000589841,;DUS3L,upstream_gene_variant,,ENST00000592673,;	572	114	93	SUCCESS
FBN3	84467	.	GRCh37	19	8138130	8138130	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775168991	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	16	439	0	ENST00000270509.2:c.7754G>A	p.Arg2585His	p.R2585H	ENST00000270509	NM_032447.3	2585	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12196.1	7754	MUTECT|MUSE	.	TGTTGCGACAG	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	62/64	.	.	.	.	.	.	.	.	rs775168991	62/64	nonpreferredpair	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.88)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Arg2585His,ENST00000600128,;FBN3,missense_variant,p.Arg2585His,ENST00000601739,;FBN3,missense_variant,p.Arg2585His,ENST00000270509,;FBN3,downstream_gene_variant,,ENST00000595036,;	8169	439	249	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145248824	145248824	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs782566815	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1243	79	1258	0	ENST00000369340.3:c.-33C>G		p.*11*	ENST00000369340				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS909.1	.	MUSE|VARSCANS	.	AGTGTCGAGAT	NONE	byFrequency	.	.	.	.	ENSP00000358346	.	3/6	.	.	.	.	.	.	.	.	rs782566815	3/6	nonpreferredpair	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,5_prime_UTR_variant,,ENST00000369340,;NOTCH2NL,5_prime_UTR_variant,,ENST00000362074,;NOTCH2NL,5_prime_UTR_variant,,ENST00000344859,;RP11-458D21.5,5_prime_UTR_variant,,ENST00000468030,;	412	1258	1322	SUCCESS
HFE2	0	.	GRCh37	1	145416462	145416462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	35	139	0	ENST00000336751.5:c.807C>A	p.Asn269Lys	p.N269K	ENST00000336751	NM_213653.3	269	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS910.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAACCCTGG	NONE	.	.	hmmpanther:PTHR31428:SF3,hmmpanther:PTHR31428,Pfam_domain:PF06534	.	.	ENSP00000337014	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000336751	Transcript	.	.	ENSG00000168509	4887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.83)	.	RGMC_HUMAN	HFE2	HGNC	F8W6J7_HUMAN,A8K466_HUMAN	.	UPI000013EB58	SNV	HFE2,missense_variant,p.Asn269Lys,ENST00000336751,;HFE2,missense_variant,p.Asn43Lys,ENST00000475797,;HFE2,missense_variant,p.Asn43Lys,ENST00000497365,;HFE2,missense_variant,p.Asn156Lys,ENST00000357836,;HFE2,downstream_gene_variant,,ENST00000421822,;	1045	139	124	SUCCESS
LIX1L	128077	.	GRCh37	1	145477136	145477136	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	80	0	ENST00000369308.3:c.-23G>T		p.*8*	ENST00000369308	NM_153713.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS915.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGCGCTA	NONE	.	.	.	.	.	ENSP00000358314	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000369308	Transcript	.	.	ENSG00000152022	28715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIX1L_HUMAN	LIX1L	HGNC	.	.	UPI0000074663	SNV	LIX1L,5_prime_UTR_variant,,ENST00000369308,;ANKRD34A,downstream_gene_variant,,ENST00000323397,;RP11-315I20.1,intron_variant,,ENST00000600340,;	52	80	51	SUCCESS
PLEKHM2	23207	.	GRCh37	1	16051919	16051919	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs552932422	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	190	0	ENST00000375799.3:c.820G>A	p.Glu274Lys	p.E274K	ENST00000375799	NM_015164.2	274	Gag/Aag	0	.	A:0.0008	.	A:0	.	A	E/K	protein_coding	YES	CCDS44063.1	820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGAGGAG	NONE	by1000G	.	.	A:0	.	ENSP00000364956	A:0	8/20	.	.	.	.	.	.	.	.	rs552932422	8/20	nonpreferredpair	ENST00000375799	Transcript	.	A:0.0002	ENSG00000116786	29131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	A:0	deleterious_low_confidence(0.01)	.	PKHM2_HUMAN	PLEKHM2	HGNC	.	.	UPI00001C1D9C	SNV	PLEKHM2,missense_variant,p.Glu254Lys,ENST00000375793,;PLEKHM2,missense_variant,p.Glu274Lys,ENST00000375799,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,upstream_gene_variant,,ENST00000477849,;	1047	190	112	SUCCESS
DISP1	84976	.	GRCh37	1	223177045	223177045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	107	133	0	ENST00000284476.6:c.2306A>G	p.Lys769Arg	p.K769R	ENST00000284476	NM_032890.3	769	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1536.1	2306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAAAAAGC	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115	.	.	ENSP00000284476	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000284476	Transcript	.	.	ENSG00000154309	19711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.7)	.	DISP1_HUMAN	DISP1	HGNC	.	.	UPI000016069D	SNV	DISP1,missense_variant,p.Lys769Arg,ENST00000284476,;	2470	133	183	SUCCESS
OBSCN	84033	.	GRCh37	1	228526698	228526698	+	synonymous_variant	Silent	SNP	T	T	C	rs751416415	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	75	349	0	ENST00000422127.1:c.17229T>C	p.Asn5743=	p.N5743=	ENST00000422127	NM_001098623.2	5743	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS59204.1	20100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAATGTGCG	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000455507	.	80/116	.	.	.	.	.	.	.	.	rs751416415	80/116	nonpreferredpair	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000441106,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	20174	349	246	SUCCESS
OR2T6	254879	.	GRCh37	1	248551236	248551236	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	48	99	0	ENST00000355728.2:c.327G>T	p.Gly109=	p.G109=	ENST00000355728	NM_001005471.1	109	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31114.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGGCTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	COSM534138	1/1	nonpreferredpair	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,synonymous_variant,p.%3D,ENST00000355728,;	327	99	140	SUCCESS
RSPO1	284654	.	GRCh37	1	38082337	38082337	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	71	295	0	ENST00000356545.2:c.105G>A	p.Glu35=	p.E35=	ENST00000356545	NM_001038633.3	35	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS41304.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCTCGGC	NONE	.	.	hmmpanther:PTHR23275:SF33,hmmpanther:PTHR23275,SMART_domains:SM00261	.	.	ENSP00000348944	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000356545	Transcript	.	.	ENSG00000169218	21679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSPO1_HUMAN	RSPO1	HGNC	.	.	UPI0000674A16	SNV	RSPO1,synonymous_variant,p.%3D,ENST00000401070,;RSPO1,synonymous_variant,p.%3D,ENST00000401068,;RSPO1,synonymous_variant,p.%3D,ENST00000401069,;RSPO1,synonymous_variant,p.%3D,ENST00000401071,;RSPO1,synonymous_variant,p.%3D,ENST00000356545,;RSPO1,synonymous_variant,p.%3D,ENST00000373059,;	893	295	182	SUCCESS
MACF1	23499	.	GRCh37	1	39920643	39920643	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	6	123	0	ENST00000372915.3:c.20646T>A	p.Ala6882=	p.A6882=	ENST00000372915		6882	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS435.1	14772	MUTECT|MUSE|VARSCANS	.	GTGGCTAATGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150	.	.	ENSP00000439537	.	85/94	.	.	.	.	.	.	.	.	.	85/94	nonpreferredpair	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000372925,;MACF1,synonymous_variant,p.%3D,ENST00000361689,;MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000539005,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000317713,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,synonymous_variant,p.%3D,ENST00000545844,;MACF1,synonymous_variant,p.%3D,ENST00000360115,;MACF1,upstream_gene_variant,,ENST00000446276,;MACF1,upstream_gene_variant,,ENST00000497964,;MACF1,downstream_gene_variant,,ENST00000487656,;	14880	123	81	SUCCESS
IPO13	9670	.	GRCh37	1	44415602	44415602	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	39	0	ENST00000372343.3:c.598G>A	p.Ala200Thr	p.A200T	ENST00000372343	NM_014652.3	200	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS503.1	598	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGCTGTC	NONE	.	.	hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF29,Gene3D:1.25.10.10,Pfam_domain:PF08389,Superfamily_domains:SSF48371	.	.	ENSP00000361418	.	2/20	.	.	.	.	.	.	.	.	.	2/20	nonpreferredpair	ENST00000372343	Transcript	.	.	ENSG00000117408	16853	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.63)	.	IPO13_HUMAN	IPO13	HGNC	.	.	UPI0000073F11	SNV	IPO13,missense_variant,p.Ala200Thr,ENST00000372343,;RP11-7O11.3,upstream_gene_variant,,ENST00000412378,;RP11-7O11.3,upstream_gene_variant,,ENST00000445226,;RP11-7O11.3,upstream_gene_variant,,ENST00000446167,;IPO13,intron_variant,,ENST00000489773,;IPO13,upstream_gene_variant,,ENST00000492152,;IPO13,downstream_gene_variant,,ENST00000489061,;	1260	39	48	SUCCESS
BEND5	79656	.	GRCh37	1	49208383	49208383	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs902044046	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	84	0	ENST00000371833.3:c.806G>A	p.Arg269Gln	p.R269Q	ENST00000371833	NM_024603.2	269	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS552.2	806	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCGTAAC	NONE	.	.	hmmpanther:PTHR14628	.	.	ENSP00000360899	.	4/6	.	.	.	.	.	.	.	.	COSM1184660,COSM1184659	4/6	nonpreferredpair	ENST00000371833	Transcript	.	.	ENSG00000162373	25668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0)	.	tolerated(1)	1,1	BEND5_HUMAN	BEND5	HGNC	.	.	UPI00002042F4	SNV	BEND5,missense_variant,p.Arg269Gln,ENST00000371833,;AGBL4,intron_variant,,ENST00000371839,;AGBL4,intron_variant,,ENST00000416121,;AGBL4,intron_variant,,ENST00000371838,;BEND5,intron_variant,,ENST00000476096,;BEND5,intron_variant,,ENST00000476079,;BEND5,non_coding_transcript_exon_variant,,ENST00000463562,;	893	84	54	SUCCESS
ID1	3397	.	GRCh37	20	30193820	30193820	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	28	0	ENST00000376112.3:c.427-36C>T		p.*143*	ENST00000376112	NM_002165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13185.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTCCAACC	NONE	.	.	.	.	.	ENSP00000365280	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000376112	Transcript	.	.	ENSG00000125968	5360	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID1_HUMAN	ID1	HGNC	.	.	UPI000012D18F	SNV	ID1,3_prime_UTR_variant,,ENST00000376105,;ID1,intron_variant,,ENST00000376112,;MIR3193,upstream_gene_variant,,ENST00000578262,;	.	28	30	SUCCESS
BAGE2	85319	.	GRCh37	21	11039196	11039196	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	386	36	417	0	ENST00000470054.1:n.1008A>G		p.*336*	ENST00000470054				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	TTCAATGACAA	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1008	417	423	SUCCESS
DSCAM	1826	.	GRCh37	21	41416175	41416175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	142	0	ENST00000400454.1:c.5213C>A	p.Ala1738Asp	p.A1738D	ENST00000400454	NM_001271534.1	1738	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS42929.1	5213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCCTTG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16	.	.	ENSP00000383303	.	31/33	.	.	.	.	.	.	.	.	.	31/33	nonpreferredpair	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.01)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Ala1490Asp,ENST00000404019,;DSCAM,missense_variant,p.Ala1738Asp,ENST00000400454,;	5691	142	107	SUCCESS
KRTAP10-9	386676	.	GRCh37	21	46047076	46047076	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	23	163	0	ENST00000397911.3:c.-13T>C		p.*5*	ENST00000397911	NM_198690.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42961.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCCCCA	NONE	.	.	.	.	.	ENSP00000381009	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000397911	Transcript	.	.	ENSG00000221837	22971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR109_HUMAN	KRTAP10-9	HGNC	.	.	UPI000036709D	SNV	KRTAP10-9,5_prime_UTR_variant,,ENST00000397911,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-9,non_coding_transcript_exon_variant,,ENST00000484861,;	37	163	100	SUCCESS
CDC45	8318	.	GRCh37	22	19481906	19481906	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	41	142	0	ENST00000263201.1:c.542+1G>T		p.X181_splice	ENST00000263201	NM_003504.4	181		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54499.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGGTGAGT	NONE	.	.	.	.	.	ENSP00000405726	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000437685	Transcript	.	.	ENSG00000093009	1739	.	.	HIGH	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDC45_HUMAN	CDC45	HGNC	C9K087_HUMAN	.	UPI000042153E	SNV	CDC45,splice_donor_variant,,ENST00000404724,;CDC45,splice_donor_variant,,ENST00000407835,;CDC45,splice_donor_variant,,ENST00000263201,;CDC45,splice_donor_variant,,ENST00000437685,;CDC45,downstream_gene_variant,,ENST00000438587,;CDC45,splice_donor_variant,,ENST00000483431,;CDC45,splice_donor_variant,,ENST00000487669,;CDC45,splice_donor_variant,,ENST00000428937,;	.	142	126	SUCCESS
IGLJ2	28832	.	GRCh37	22	23241818	23241818	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	84	0	ENST00000390322.2:c.125C>T	p.Thr42Ile	p.T42I	ENST00000390322		42	aCc/aTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54506.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACCAAGC	NONE	.	3813	.	.	.	ENSP00000431254	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000526893	Transcript	.	.	ENSG00000254709	38476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAC1_HUMAN,IGLL5_HUMAN	IGLL5	HGNC	A0M8Q9_HUMAN	.	UPI0000119C74	SNV	IGLL5,downstream_gene_variant,,ENST00000532223,;IGLL5,downstream_gene_variant,,ENST00000526893,;IGLL5,downstream_gene_variant,,ENST00000531372,;IGLJ2,missense_variant,p.Thr42Ile,ENST00000390322,;IGLC2,upstream_gene_variant,,ENST00000390323,;IGLC1,downstream_gene_variant,,ENST00000390321,;	.	84	70	SUCCESS
GCAT	23464	.	GRCh37	22	38212648	38212648	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	162	0	ENST00000248924.6:c.1183G>A	p.Val395Met	p.V395M	ENST00000248924	NM_014291.3	395	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54527.1	1261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGTGCAT	NONE	.	.	hmmpanther:PTHR13693:SF57,hmmpanther:PTHR13693,TIGRFAM_domain:TIGR01822,Gene3D:3.90.1150.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383	.	.	ENSP00000371110	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000323205	Transcript	.	.	ENSG00000100116	4188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0)	.	KBL_HUMAN	GCAT	HGNC	.	.	UPI000020770F	SNV	GCAT,missense_variant,p.Val395Met,ENST00000248924,;GCAT,missense_variant,p.Val421Met,ENST00000323205,;GCAT,downstream_gene_variant,,ENST00000451984,;GCAT,downstream_gene_variant,,ENST00000445195,;GCAT,downstream_gene_variant,,ENST00000415371,;GCAT,downstream_gene_variant,,ENST00000426858,;GCAT,downstream_gene_variant,,ENST00000478203,;	1324	162	110	SUCCESS
SOX10	6663	.	GRCh37	22	38369604	38369604	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	21	0	ENST00000360880.2:c.1299G>A	p.Arg433=	p.R433=	ENST00000360880		433	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13964.1	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCCGCTG	NONE	.	.	hmmpanther:PTHR10270:SF106,hmmpanther:PTHR10270	.	.	ENSP00000380093	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000396884	Transcript	.	.	ENSG00000100146	11190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX10_HUMAN	SOX10	HGNC	A6PVD3_HUMAN	.	UPI00001362AA	SNV	SOX10,synonymous_variant,p.%3D,ENST00000360880,;SOX10,synonymous_variant,p.%3D,ENST00000396884,;POLR2F,intron_variant,,ENST00000407936,;SOX10,intron_variant,,ENST00000446929,;POLR2F,intron_variant,,ENST00000405557,;SOX10,downstream_gene_variant,,ENST00000427770,;POLR2F,downstream_gene_variant,,ENST00000442738,;POLR2F,downstream_gene_variant,,ENST00000484894,;SOX10,downstream_gene_variant,,ENST00000470555,;POLR2F,intron_variant,,ENST00000443002,;	1582	21	32	SUCCESS
DPP10	57628	.	GRCh37	2	116534805	116534805	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150929011	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	8	204	0	ENST00000410059.1:c.1243G>A	p.Val415Met	p.V415M	ENST00000410059	NM_001178037.1	415	Gtg/Atg	0	A:0.0007	.	.	.	.	A	V/M	protein_coding	YES	CCDS54388.1	1255	MUTECT|MUSE	.	TTACCGTGCGG	SITE|p.V408M|c.1222G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	A:0	ENSP00000376855	.	14/26	.	.	.	.	.	.	.	.	rs150929011,COSM74428,COSM1398958	14/26	nonpreferredpair	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.091)	.	tolerated(0.09)	0,1,1	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Val419Met,ENST00000393147,;DPP10,missense_variant,p.Val365Met,ENST00000409163,;DPP10,missense_variant,p.Val408Met,ENST00000310323,;DPP10,missense_variant,p.Val415Met,ENST00000410059,;	1610	204	163	SUCCESS
ACVR2A	92	.	GRCh37	2	148684653	148684659	+	frameshift_variant	Frame_Shift_Del	DEL	TGGCAAT	TGGCAAT	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	TGGCAAT	TGGCAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	122	0	ENST00000241416.7:c.1352_1358del	p.Met451SerfsTer23	p.M451Sfs*23	ENST00000241416	NM_001616.4	451	aTGGCAATg/ag	0	.	.	.	.	.	-	MAM/X	protein_coding	YES	CCDS33301.1	1352-1358	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGAATGGCAATGCTCT	NONE	.	.	Prints_domain:PR00653,Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	deletion	ACVR2A,frameshift_variant,p.Met451SerfsTer23,ENST00000241416,;ACVR2A,frameshift_variant,p.Met451SerfsTer23,ENST00000404590,;ACVR2A,frameshift_variant,p.Met343SerfsTer23,ENST00000535787,;ORC4,downstream_gene_variant,,ENST00000392857,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	1988-1994	122	68	SUCCESS
GCG	2641	.	GRCh37	2	163000619	163000620	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	124	0	ENST00000375497.3:c.453dup	p.Ser152LeufsTer2	p.S152Lfs*2	ENST00000375497		151	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS46439.1	453-454	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCAGAGAAAG	NONE	.	.	SMART_domains:SM00070,Pfam_domain:PF00123,PROSITE_patterns:PS00260,hmmpanther:PTHR11418:SF0,hmmpanther:PTHR11418	.	.	ENSP00000387662	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000418842	Transcript	.	.	ENSG00000115263	4191	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLUC_HUMAN	GCG	HGNC	.	.	UPI000012B832	insertion	GCG,frameshift_variant,p.Ser152LeufsTer2,ENST00000418842,;GCG,frameshift_variant,p.Ser152LeufsTer2,ENST00000375497,;GCG,non_coding_transcript_exon_variant,,ENST00000483769,;GCG,downstream_gene_variant,,ENST00000497568,;GCG,downstream_gene_variant,,ENST00000492913,;	708-709	124	101	SUCCESS
GPR1	2825	.	GRCh37	2	207040977	207040977	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	159	0	ENST00000407325.2:c.995G>A	p.Cys332Tyr	p.C332Y	ENST00000407325	NM_001098199.1	332	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS2368.1	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACAGCTG	NONE	.	.	Prints_domain:PR01146,hmmpanther:PTHR24229:SF4,hmmpanther:PTHR24229	.	.	ENSP00000384345	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000407325	Transcript	.	.	ENSG00000183671	4463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	tolerated(1)	.	GPR1_HUMAN	GPR1	HGNC	C9JSU0_HUMAN,C9JQB7_HUMAN,C9JKF3_HUMAN,C9JFR8_HUMAN,C9JCK1_HUMAN,C9J456_HUMAN	.	UPI000013C9FB	SNV	GPR1,missense_variant,p.Cys332Tyr,ENST00000407325,;GPR1,missense_variant,p.Cys332Tyr,ENST00000437420,;GPR1,downstream_gene_variant,,ENST00000442134,;GPR1,downstream_gene_variant,,ENST00000439932,;GPR1,downstream_gene_variant,,ENST00000458440,;GPR1,downstream_gene_variant,,ENST00000447845,;GPR1,downstream_gene_variant,,ENST00000451790,;GPR1,downstream_gene_variant,,ENST00000411719,;	1358	159	106	SUCCESS
ECEL1	9427	.	GRCh37	2	233345176	233345176	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779471802	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	183	0	ENST00000304546.1:c.2161A>G	p.Ile721Val	p.I721V	ENST00000304546	NM_004826.2	721	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2493.1	2161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGATGCACC	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	17/18	.	.	.	.	.	.	.	.	rs779471802	17/18	nonpreferredpair	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	.	tolerated(0.7)	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,missense_variant,p.Ile719Val,ENST00000409941,;ECEL1,missense_variant,p.Ile721Val,ENST00000304546,;ECEL1,missense_variant,p.Ile114Val,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	2372	183	106	SUCCESS
TSSC1	0	.	GRCh37	2	3217959	3217959	+	synonymous_variant	Silent	SNP	G	G	A	rs909138274	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	121	0	ENST00000382125.4:c.477C>T	p.Ile159=	p.I159=	ENST00000382125	NM_003310.2	159	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS1651.1	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGATATG	NONE	.	.	Superfamily_domains:0049172,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205,PROSITE_profiles:PS50294	.	.	ENSP00000371559	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000382125	Transcript	.	.	ENSG00000032389	12383	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSSC1_HUMAN	TSSC1	HGNC	.	.	UPI000006DFE1	SNV	TSSC1,synonymous_variant,p.%3D,ENST00000398659,;TSSC1,synonymous_variant,p.%3D,ENST00000382125,;TSSC1,synonymous_variant,p.%3D,ENST00000443925,;TSSC1,intron_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000463662,;TSSC1,non_coding_transcript_exon_variant,,ENST00000462515,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,missense_variant,p.Ser107Phe,ENST00000435721,;TSSC1,3_prime_UTR_variant,,ENST00000455162,;TSSC1,3_prime_UTR_variant,,ENST00000406835,;TSSC1,non_coding_transcript_exon_variant,,ENST00000482570,;TSSC1,non_coding_transcript_exon_variant,,ENST00000470625,;	670	121	94	SUCCESS
OTX1	5013	.	GRCh37	2	63282703	63282703	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774306777	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	73	346	0	ENST00000282549.2:c.317G>T	p.Arg106Leu	p.R106L	ENST00000282549	NM_014562.3	106	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1873.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGCCCAG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF310	.	.	ENSP00000282549	.	5/5	.	.	.	.	.	.	.	.	rs774306777	5/5	nonpreferredpair	ENST00000282549	Transcript	.	.	ENSG00000115507	8521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0.01)	.	OTX1_HUMAN	OTX1	HGNC	Q9P2R2_HUMAN,B4DM62_HUMAN	.	UPI0000130F36	SNV	OTX1,missense_variant,p.Arg106Leu,ENST00000282549,;OTX1,missense_variant,p.Arg106Leu,ENST00000366671,;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;OTX1,downstream_gene_variant,,ENST00000484066,;	593	346	200	SUCCESS
MDH1	4190	.	GRCh37	2	63832431	63832431	+	synonymous_variant	Silent	SNP	C	C	T	rs542095115	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	43	152	0	ENST00000233114.8:c.693C>T	p.Gly231=	p.G231=	ENST00000233114	NM_005917.3	231	ggC/ggT	0	.	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS56121.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCGCTGC	NONE	by1000G	.	Superfamily_domains:SSF56327,PIRSF_domain:PIRSF000102,Gene3D:3.90.110.10,Pfam_domain:PF02866,TIGRFAM_domain:TIGR01759,TIGRFAM_domain:TIGR01758,hmmpanther:PTHR23382,HAMAP:MF_01517	T:0	.	ENSP00000438144	T:0	7/9	.	.	.	.	.	.	.	.	rs542095115	7/9	nonpreferredpair	ENST00000539945	Transcript	.	T:0.0002	ENSG00000014641	6970	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	MDHC_HUMAN	MDH1	HGNC	C9JRL4_HUMAN,C9JF79_HUMAN	.	UPI0001E92A3D	SNV	MDH1,synonymous_variant,p.%3D,ENST00000544381,;MDH1,synonymous_variant,p.%3D,ENST00000409476,;MDH1,synonymous_variant,p.%3D,ENST00000409908,;MDH1,synonymous_variant,p.%3D,ENST00000539945,;MDH1,synonymous_variant,p.%3D,ENST00000394423,;MDH1,synonymous_variant,p.%3D,ENST00000233114,;MDH1,downstream_gene_variant,,ENST00000432309,;WDPCP,intron_variant,,ENST00000490935,;WDPCP,intron_variant,,ENST00000467687,;MDH1,upstream_gene_variant,,ENST00000495083,;MDH1,downstream_gene_variant,,ENST00000421012,;	842	152	102	SUCCESS
CTNNA2	1496	.	GRCh37	2	80801440	80801440	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	157	0	ENST00000402739.4:c.1893+1G>T		p.X631_splice	ENST00000402739	NM_001282597.1	631		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42703.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGTATGT	NONE	.	.	.	.	.	ENSP00000418191	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	HIGH	17/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,splice_donor_variant,,ENST00000496558,;CTNNA2,splice_donor_variant,,ENST00000361291,;CTNNA2,splice_donor_variant,,ENST00000541047,;CTNNA2,splice_donor_variant,,ENST00000343114,;CTNNA2,splice_donor_variant,,ENST00000540488,;CTNNA2,splice_donor_variant,,ENST00000466387,;CTNNA2,splice_donor_variant,,ENST00000402739,;AC008067.2,downstream_gene_variant,,ENST00000609950,;AC008067.2,downstream_gene_variant,,ENST00000430876,;AC008067.2,downstream_gene_variant,,ENST00000596887,;	.	157	118	SUCCESS
FER1L5	90342	.	GRCh37	2	97360146	97360146	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	139	0	ENST00000414152.1:n.3767G>A		p.*1256*	ENST00000414152				0	.	.	.	.	.	A	.	retained_intron	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGGGGCAT	NONE	.	.	.	.	.	.	.	17/35	.	.	.	.	.	.	.	.	.	17/35	nonpreferredpair	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;FER1L5,upstream_gene_variant,,ENST00000397978,;	2145	139	72	SUCCESS
GRIP2	80852	.	GRCh37	3	14548392	14548392	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs374577398	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	62	228	0	ENST00000273083.3:n.2380G>A		p.*794*	ENST00000273083				0	T:0	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCGGGCT	NONE	byFrequency|byCluster	.	.	.	T:0.0001	.	.	19/24	.	.	.	.	.	.	.	.	rs374577398	19/24	nonpreferredpair	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000430219,;GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;	2380	228	136	SUCCESS
SPATA16	83893	.	GRCh37	3	172643141	172643141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	55	0	ENST00000351008.3:c.1223T>A	p.Phe408Tyr	p.F408Y	ENST00000351008	NM_031955.5	408	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS3221.1	1223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGAATATC	NONE	.	.	hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015	.	.	ENSP00000341765	.	7/11	.	.	.	.	.	.	.	.	.	7/11	nonpreferredpair	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	deleterious(0.03)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Phe408Tyr,ENST00000351008,;	1407	55	83	SUCCESS
CLDN16	10686	.	GRCh37	3	190126207	190126207	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	102	0	ENST00000264734.2:c.697G>A	p.Gly233Ser	p.G233S	ENST00000264734	NM_006580.3	233	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3296.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTGGTTGG	NONE	.	.	hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF56,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000264734	.	4/5	.	.	.	.	.	.	.	.	CM056565	4/5	nonpreferredpair	ENST00000264734	Transcript	.	.	ENSG00000113946	2037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	CLD16_HUMAN	CLDN16	HGNC	.	.	UPI0000127AB8	SNV	CLDN16,missense_variant,p.Gly233Ser,ENST00000264734,;CLDN16,intron_variant,,ENST00000456423,;CLDN16,downstream_gene_variant,,ENST00000468220,;	945	102	101	SUCCESS
CNOT10	25904	.	GRCh37	3	32757737	32757737	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	116	0	ENST00000328834.5:c.594A>G	p.Lys198=	p.K198=	ENST00000328834	NM_015442.2	198	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS58822.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAAGATGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979	.	.	ENSP00000399862	.	6/19	.	.	.	.	.	.	.	.	.	6/19	nonpreferredpair	ENST00000454516	Transcript	.	.	ENSG00000182973	23817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNO10_HUMAN	CNOT10	HGNC	B7Z5B3_HUMAN	.	UPI000206533D	SNV	CNOT10,synonymous_variant,p.%3D,ENST00000328834,;CNOT10,synonymous_variant,p.%3D,ENST00000331889,;CNOT10,synonymous_variant,p.%3D,ENST00000454516,;CNOT10,5_prime_UTR_variant,,ENST00000538368,;CNOT10,non_coding_transcript_exon_variant,,ENST00000556853,;CNOT10,non_coding_transcript_exon_variant,,ENST00000463697,;CNOT10,non_coding_transcript_exon_variant,,ENST00000494439,;CNOT10,synonymous_variant,p.%3D,ENST00000416457,;CNOT10,synonymous_variant,p.%3D,ENST00000435630,;CNOT10,3_prime_UTR_variant,,ENST00000455381,;CNOT10,downstream_gene_variant,,ENST00000485136,;	851	116	115	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913409	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	54	169	0	ENST00000349496.5:c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000349496	NM_001904.3	45	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45Y|c.134C>A|27,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45F|c.134C>T|518,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	nonpreferredpair	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.968)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	169	112	SUCCESS
BHLHE40	8553	.	GRCh37	3	5025203	5025203	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	221	0	ENST00000256495.3:c.1065C>T	p.Leu355=	p.L355=	ENST00000256495	NM_003670.2	355	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2565.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCAACGC	NONE	.	.	hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF3	.	.	ENSP00000256495	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000256495	Transcript	.	.	ENSG00000134107	1046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHE40_HUMAN	BHLHE40	HGNC	Q6IB83_HUMAN	.	UPI0000126923	SNV	BHLHE40,synonymous_variant,p.%3D,ENST00000256495,;BHLHE40-AS1,upstream_gene_variant,,ENST00000441386,;BHLHE40-AS1,upstream_gene_variant,,ENST00000434530,;BHLHE40-AS1,upstream_gene_variant,,ENST00000420832,;BHLHE40,downstream_gene_variant,,ENST00000467610,;BHLHE40,downstream_gene_variant,,ENST00000460806,;	1668	221	94	SUCCESS
ADH1B	125	.	GRCh37	4	100235183	100235183	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1442109099	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	46	318	0	ENST00000305046.8:c.623C>T	p.Ala208Val	p.A208V	ENST00000305046		208	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34033.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGCAGAT	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000306606	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000305046	Transcript	1	.	ENSG00000196616	250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ADH1B_HUMAN	ADH1B	HGNC	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN	.	UPI00001699B5	SNV	ADH1B,missense_variant,p.Ala168Val,ENST00000394887,;ADH1B,missense_variant,p.Ala208Val,ENST00000305046,;ADH1B,downstream_gene_variant,,ENST00000504498,;ADH1B,3_prime_UTR_variant,,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;	691	318	199	SUCCESS
FAT4	79633	.	GRCh37	4	126372517	126372517	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	105	0	ENST00000394329.3:c.10346A>T	p.Glu3449Val	p.E3449V	ENST00000394329	NM_024582.4	3449	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS3732.3	10346	MUTECT|MUSE	.	GAATGAAAATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	.	9/17	nonpreferredpair	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.493)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Glu3449Val,ENST00000394329,;FAT4,missense_variant,p.Glu1747Val,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	10359	105	91	SUCCESS
FAT4	79633	.	GRCh37	4	126400895	126400895	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	72	0	ENST00000394329.3:c.12474-1G>A		p.X4158_splice	ENST00000394329	NM_024582.4	4158		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3732.3	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTAGATGCC	NONE	.	.	.	.	.	ENSP00000377862	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	HIGH	13/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,splice_acceptor_variant,,ENST00000394329,;FAT4,intron_variant,,ENST00000335110,;	.	72	39	SUCCESS
BST1	683	.	GRCh37	4	15709230	15709230	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	132	0	ENST00000265016.4:c.412G>A	p.Ala138Thr	p.A138T	ENST00000265016	NM_004334.2	138	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3416.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTGCAGAT	NONE	.	.	hmmpanther:PTHR10912:SF4,hmmpanther:PTHR10912,Pfam_domain:PF02267,Gene3D:1.20.82.10,Superfamily_domains:SSF52309	.	.	ENSP00000265016	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000265016	Transcript	.	.	ENSG00000109743	1118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	deleterious(0.04)	.	BST1_HUMAN	BST1	HGNC	.	.	UPI0000072318	SNV	BST1,missense_variant,p.Ala153Thr,ENST00000382346,;BST1,missense_variant,p.Ala138Thr,ENST00000265016,;BST1,missense_variant,p.Ala34Thr,ENST00000505785,;BST1,upstream_gene_variant,,ENST00000514445,;FAM200B,downstream_gene_variant,,ENST00000504598,;	607	132	102	SUCCESS
TMPRSS11E	28983	.	GRCh37	4	69343131	69343131	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs377258215	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	71	123	0	ENST00000305363.4:c.752T>C	p.Ile251Thr	p.I251T	ENST00000305363	NM_014058.3	251	aTa/aCa	0	C:0	.	.	.	.	C	I/T	protein_coding	YES	CCDS33993.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAATAAAAC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF65,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	C:0.0001	ENSP00000307519	.	8/10	.	.	.	.	.	.	.	.	rs377258215	8/10	nonpreferredpair	ENST00000305363	Transcript	.	.	ENSG00000087128	24465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	.	deleterious(0)	.	TM11E_HUMAN	TMPRSS11E	HGNC	Q4W5P3_HUMAN	.	UPI00000389F7	SNV	TMPRSS11E,missense_variant,p.Ile251Thr,ENST00000305363,;TMPRSS11E,3_prime_UTR_variant,,ENST00000510647,;	816	123	165	SUCCESS
ALB	213	.	GRCh37	4	74274521	74274524	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	AAGT	AAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	52	0	ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	481-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	nonpreferredpair	ENST00000295897	Transcript	1	.	ENSG00000163631	399	6	.	HIGH	4/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	570-?	52	41	SUCCESS
YTHDC2	64848	.	GRCh37	5	112926896	112926896	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	34	130	0	ENST00000161863.4:c.3984C>T	p.Ser1328=	p.S1328=	ENST00000161863	NM_022828.3	1328	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4113.1	3984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCATAGT	NONE	.	.	Pfam_domain:PF04146,PROSITE_profiles:PS50882	.	.	ENSP00000161863	.	27/30	.	.	.	.	.	.	.	.	.	27/30	nonpreferredpair	ENST00000161863	Transcript	.	.	ENSG00000047188	24721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YTDC2_HUMAN	YTHDC2	HGNC	D6RA70_HUMAN	.	UPI0000367311	SNV	YTHDC2,synonymous_variant,p.%3D,ENST00000161863,;YTHDC2,non_coding_transcript_exon_variant,,ENST00000507567,;YTHDC2,non_coding_transcript_exon_variant,,ENST00000512600,;	4197	130	134	SUCCESS
KDM3B	51780	.	GRCh37	5	137734001	137734001	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	69	228	0	ENST00000314358.5:c.2966A>G	p.Tyr989Cys	p.Y989C	ENST00000314358	NM_016604.3	989	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34242.1	2966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATACATCC	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	10/24	.	.	.	.	.	.	.	.	.	10/24	nonpreferredpair	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.Tyr21Cys,ENST00000542866,;KDM3B,missense_variant,p.Tyr645Cys,ENST00000394866,;KDM3B,missense_variant,p.Tyr989Cys,ENST00000314358,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,non_coding_transcript_exon_variant,,ENST00000504095,;	3166	228	209	SUCCESS
TENM2	57451	.	GRCh37	5	167674450	167674450	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778860546	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	8	281	0	ENST00000518659.1:c.6506G>A	p.Arg2169Gln	p.R2169Q	ENST00000518659	NM_001122679.1	2169	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	6506	MUTECT|MUSE	.	GTTCCGGTCCC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219	.	.	ENSP00000429430	.	27/29	.	.	.	.	.	.	.	.	rs778860546	27/29	nonpreferredpair	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Arg2168Gln,ENST00000545108,;TENM2,missense_variant,p.Arg1930Gln,ENST00000520394,;TENM2,missense_variant,p.Arg2048Gln,ENST00000519204,;TENM2,missense_variant,p.Arg2169Gln,ENST00000518659,;TENM2,missense_variant,p.Arg1993Gln,ENST00000403607,;	6545	281	245	SUCCESS
RP11-423H2.1	0	.	GRCh37	5	177309375	177309375	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	548	200	749	0	ENST00000506672.1:n.707C>G		p.*236*	ENST00000506672				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCAGAAC	NONE	.	.	.	.	.	.	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000506672	Transcript	.	.	ENSG00000170089	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-423H2.1	Clone_based_vega_gene	.	.	.	SNV	RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000511074,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000515065,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000507037,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000506082,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000510692,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000506672,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000515525,;RP11-423H2.1,upstream_gene_variant,,ENST00000514635,;RP11-423H2.1,upstream_gene_variant,,ENST00000503449,;RP11-423H2.1,upstream_gene_variant,,ENST00000358442,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000502601,;RP11-423H2.1,upstream_gene_variant,,ENST00000504756,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000512851,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000303154,;	707	749	748	SUCCESS
KIAA0947	0	.	GRCh37	5	5463008	5463008	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	56	0	ENST00000296564.7:c.3561T>A	p.Tyr1187Ter	p.Y1187*	ENST00000296564	NM_015325.2	1187	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS47187.1	3561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTATAGTTC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	nonpreferredpair	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,stop_gained,p.Tyr1187Ter,ENST00000296564,;	3783	56	99	SUCCESS
PPAP2A	0	.	GRCh37	5	54763977	54763977	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	41	0	ENST00000307259.8:c.211A>G	p.Ile71Val	p.I71V	ENST00000307259	NM_003711.3	71	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34160.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATCTGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF26,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000264775	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000264775	Transcript	.	.	ENSG00000067113	9228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.26)	.	LPP1_HUMAN	PPAP2A	HGNC	.	.	UPI0000150635	SNV	PPAP2A,missense_variant,p.Ile72Val,ENST00000264775,;PPAP2A,missense_variant,p.Ile71Val,ENST00000307259,;PPAP2A,splice_region_variant,,ENST00000515132,;PPAP2A,splice_region_variant,,ENST00000509667,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000520263,;	554	41	74	SUCCESS
POC5	134359	.	GRCh37	5	74981292	74981292	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1275229292	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	47	55	0	ENST00000428202.2:c.1147A>C	p.Asn383His	p.N383H	ENST00000428202	NM_001099271.1	383	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS47236.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATTATTTG	NONE	.	.	.	.	.	ENSP00000410216	.	10/12	.	.	.	.	.	.	.	.	.	10/12	nonpreferredpair	ENST00000428202	Transcript	.	.	ENSG00000152359	26658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	POC5_HUMAN	POC5	HGNC	D6RJ06_HUMAN,D6REA5_HUMAN,D6RBC1_HUMAN	.	UPI000020CB20	SNV	POC5,missense_variant,p.Asn266His,ENST00000510798,;POC5,missense_variant,p.Asn355His,ENST00000514838,;POC5,missense_variant,p.Asn266His,ENST00000380475,;POC5,missense_variant,p.Asn358His,ENST00000446329,;POC5,missense_variant,p.Asn383His,ENST00000428202,;POC5,upstream_gene_variant,,ENST00000503521,;	1337	55	81	SUCCESS
SHPRH	257218	.	GRCh37	6	146275926	146275926	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	53	0	ENST00000275233.7:c.533A>T	p.Glu178Val	p.E178V	ENST00000275233		178	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43513.2	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTCCACC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552	.	.	ENSP00000356475	.	2/30	.	.	.	.	.	.	.	.	.	2/30	nonpreferredpair	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	deleterious_low_confidence(0)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.Glu178Val,ENST00000275233,;SHPRH,missense_variant,p.Glu178Val,ENST00000438092,;SHPRH,missense_variant,p.Glu178Val,ENST00000367505,;SHPRH,missense_variant,p.Glu178Val,ENST00000367503,;SHPRH,missense_variant,p.Glu67Val,ENST00000519632,;SHPRH,missense_variant,p.Glu156Val,ENST00000433355,;SHPRH,upstream_gene_variant,,ENST00000521977,;	798	53	35	SUCCESS
DLL1	28514	.	GRCh37	6	170593097	170593097	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762833797	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	114	0	ENST00000366756.3:c.1270G>A	p.Gly424Ser	p.G424S	ENST00000366756	NM_005618.3	424	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS5313.1	1270	MUTECT|MUSE	.	ATCACCGAGGT	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24044,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000355718	.	9/11	.	.	.	.	.	.	.	.	rs762833797	9/11	nonpreferredpair	ENST00000366756	Transcript	.	.	ENSG00000198719	2908	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.305)	.	tolerated(0.07)	.	DLL1_HUMAN	DLL1	HGNC	.	.	UPI000004C656	SNV	DLL1,missense_variant,p.Gly424Ser,ENST00000366756,;RP5-894D12.3,downstream_gene_variant,,ENST00000438622,;RP5-894D12.3,downstream_gene_variant,,ENST00000607074,;RP5-894D12.3,downstream_gene_variant,,ENST00000422894,;	1604	114	54	SUCCESS
DHX16	8449	.	GRCh37	6	30627293	30627293	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1175528052	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	41	174	0	ENST00000376442.3:c.1963A>G	p.Met655Val	p.M655V	ENST00000376442	NM_001164239.1	655	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS4685.1	1963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATGTCAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934,PROSITE_profiles:PS51194	.	.	ENSP00000365625	.	12/20	.	.	.	.	.	.	.	.	.	12/20	nonpreferredpair	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	SNV	DHX16,missense_variant,p.Met174Val,ENST00000376437,;DHX16,missense_variant,p.Met655Val,ENST00000376442,;DHX16,non_coding_transcript_exon_variant,,ENST00000480966,;	2159	174	170	SUCCESS
MDC1	9656	.	GRCh37	6	30675754	30675754	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	5	100	0	ENST00000376406.3:c.2602G>A	p.Asp868Asn	p.D868N	ENST00000376406	NM_014641.2	868	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34384.1	2602	MUTECT|MUSE	.	GGTGTCTCTAG	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.722)	.	deleterious(0.03)	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,missense_variant,p.Asp868Asn,ENST00000376406,;MDC1,intron_variant,,ENST00000417033,;MDC1,intron_variant,,ENST00000376405,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000492462,;MDC1,upstream_gene_variant,,ENST00000489540,;	3250	100	143	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42957352	42957352	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1181904491	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	79	0	ENST00000485511.1:c.31C>T	p.Pro11Ser	p.P11S	ENST00000485511	NM_001270476.1	11	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4878.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257,PIRSF_domain:PIRSF028043	.	.	ENSP00000417963	.	2/16	.	.	.	.	.	.	.	.	COSM1444607	2/16	nonpreferredpair	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated_low_confidence(0.71)	1	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,missense_variant,p.Pro11Ser,ENST00000394110,;PPP2R5D,missense_variant,p.Pro11Ser,ENST00000485511,;PPP2R5D,missense_variant,p.Pro11Ser,ENST00000472118,;PPP2R5D,intron_variant,,ENST00000461010,;PPP2R5D,missense_variant,p.Pro11Ser,ENST00000230402,;	210	79	64	SUCCESS
CYP39A1	51302	.	GRCh37	6	46620284	46620284	+	synonymous_variant	Silent	SNP	C	C	T	rs767749619	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	119	0	ENST00000275016.2:c.36G>A	p.Leu12=	p.L12=	ENST00000275016	NM_001278739.1	12	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4916.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCCAGGAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,PIRSF_domain:PIRSF000047	.	.	ENSP00000275016	.	1/12	.	.	.	.	.	.	.	.	rs767749619	1/12	nonpreferredpair	ENST00000275016	Transcript	.	.	ENSG00000146233	17449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP39A_HUMAN	CYP39A1	HGNC	.	.	UPI000013DA3D	SNV	CYP39A1,synonymous_variant,p.%3D,ENST00000275016,;SLC25A27,upstream_gene_variant,,ENST00000452689,;SLC25A27,upstream_gene_variant,,ENST00000371347,;SLC25A27,upstream_gene_variant,,ENST00000411689,;	240	119	114	SUCCESS
ZAN	7455	.	GRCh37	7	100344318	100344318	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	67	111	0	ENST00000546292.1:c.924A>T	p.Ser308=	p.S308=	ENST00000546292	NM_173059.1	308	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	.	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCAGTCTT	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	7/46	.	.	.	.	.	.	.	.	.	7/46	nonpreferredpair	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	1072	111	120	SUCCESS
SNX8	29886	.	GRCh37	7	2294745	2294745	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	30	179	0	ENST00000222990.3:c.1344C>G	p.His448Gln	p.H448Q	ENST00000222990	NM_013321.2	448	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS5331.1	1344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGTGTGG	NONE	.	.	hmmpanther:PTHR10555:SF15,hmmpanther:PTHR10555	.	.	ENSP00000222990	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000222990	Transcript	.	.	ENSG00000106266	14972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.58)	.	SNX8_HUMAN	SNX8	HGNC	C9JCB9_HUMAN,C9J8E6_HUMAN,C9J014_HUMAN,C9IYC5_HUMAN	.	UPI0000135B46	SNV	SNX8,missense_variant,p.His448Gln,ENST00000222990,;NUDT1,downstream_gene_variant,,ENST00000397046,;NUDT1,downstream_gene_variant,,ENST00000343985,;NUDT1,downstream_gene_variant,,ENST00000397048,;NUDT1,downstream_gene_variant,,ENST00000339737,;NUDT1,downstream_gene_variant,,ENST00000397049,;NUDT1,downstream_gene_variant,,ENST00000356714,;NUDT1,downstream_gene_variant,,ENST00000487426,;SNX8,non_coding_transcript_exon_variant,,ENST00000480807,;SNX8,downstream_gene_variant,,ENST00000479689,;	1387	179	166	SUCCESS
DFNA5	0	.	GRCh37	7	24758744	24758744	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	22	154	0	ENST00000342947.3:c.498G>A	p.Gln166=	p.Q166=	ENST00000342947	NM_004403.2	166	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS5389.1	498	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCTGCAT	NONE	.	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	.	.	ENSP00000339587	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,synonymous_variant,p.%3D,ENST00000409775,;DFNA5,synonymous_variant,p.%3D,ENST00000342947,;DFNA5,synonymous_variant,p.%3D,ENST00000414428,;DFNA5,synonymous_variant,p.%3D,ENST00000545231,;DFNA5,synonymous_variant,p.%3D,ENST00000419307,;DFNA5,synonymous_variant,p.%3D,ENST00000409970,;DFNA5,upstream_gene_variant,,ENST00000415480,;DFNA5,upstream_gene_variant,,ENST00000446822,;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,;DFNA5,synonymous_variant,p.%3D,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;	924	154	158	SUCCESS
SDK1	221935	.	GRCh37	7	4153733	4153733	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1278062937	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	38	165	0	ENST00000404826.2:c.3650G>A	p.Arg1217His	p.R1217H	ENST00000404826	NM_152744.3	1217	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS34590.1	3650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCTCAG	CODON|p.R1217C|c.3649C>T|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	25/45	.	.	.	.	.	.	.	.	.	25/45	nonpreferredpair	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Arg1217His,ENST00000404826,;SDK1,missense_variant,p.Arg1217His,ENST00000389531,;	3789	165	169	SUCCESS
ABCA13	154664	.	GRCh37	7	48287835	48287835	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	70	64	0	ENST00000435803.1:c.1660-1G>T		p.X554_splice	ENST00000435803	NM_152701.3	554		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47584.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAAGGATCG	NONE	.	.	.	.	.	ENSP00000411096	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	13/61	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,splice_acceptor_variant,,ENST00000435803,;ABCA13,splice_acceptor_variant,,ENST00000417403,;	.	64	102	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72658191	72658191	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	336	145	218	0	ENST00000425256.1:n.1721A>G		p.*574*	ENST00000425256				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATACAAC	NONE	.	.	.	.	.	.	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,downstream_gene_variant,,ENST00000449689,;	1721	218	481	SUCCESS
STEAP4	79689	.	GRCh37	7	87912273	87912273	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774129138	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	61	88	0	ENST00000380079.4:c.667G>A	p.Val223Ile	p.V223I	ENST00000380079	NM_024636.3	223	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS43611.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTACGTCTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5	.	.	ENSP00000369419	.	3/5	.	.	.	.	.	.	.	.	rs774129138	3/5	nonpreferredpair	ENST00000380079	Transcript	.	.	ENSG00000127954	21923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.3)	.	STEA4_HUMAN	STEAP4	HGNC	.	.	UPI000003C39A	SNV	STEAP4,missense_variant,p.Val223Ile,ENST00000380079,;STEAP4,missense_variant,p.Val223Ile,ENST00000414498,;STEAP4,intron_variant,,ENST00000301959,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000434733,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000600908,;	769	88	127	SUCCESS
PTCD1	26024	.	GRCh37	7	99022509	99022509	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	87	0	ENST00000292478.4:c.1646G>A	p.Arg549Lys	p.R549K	ENST00000292478	NM_015545.3	549	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS56496.1	1793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCTCTTT	NONE	.	.	PROSITE_profiles:PS51375,hmmpanther:PTHR24014:SF5,hmmpanther:PTHR24014	.	.	ENSP00000400168	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000413834	Transcript	.	.	ENSG00000248919	38844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.14)	.	.	ATP5J2-PTCD1	HGNC	G3V325_HUMAN,C9JWL7_HUMAN,C9JQN9_HUMAN,C9JGL8_HUMAN,C9JBD7_HUMAN,A4D273_HUMAN	.	UPI000198CE57	SNV	ATP5J2-PTCD1,missense_variant,p.Arg598Lys,ENST00000413834,;PTCD1,missense_variant,p.Arg598Lys,ENST00000555673,;PTCD1,missense_variant,p.Arg549Lys,ENST00000292478,;PTCD1,downstream_gene_variant,,ENST00000485746,;	1816	87	88	SUCCESS
RGS20	8601	.	GRCh37	8	54792096	54792096	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	72	138	0	ENST00000297313.3:c.444G>A	p.Arg148=	p.R148=	ENST00000297313	NM_170587.2	148	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6155.1	444	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGAGGCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10845:SF154,hmmpanther:PTHR10845	.	.	ENSP00000297313	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000297313	Transcript	.	.	ENSG00000147509	14600	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS20_HUMAN	RGS20	HGNC	B3KSW4_HUMAN	.	UPI000013383C	SNV	RGS20,synonymous_variant,p.%3D,ENST00000297313,;RGS20,intron_variant,,ENST00000344277,;RGS20,upstream_gene_variant,,ENST00000276500,;RGS20,upstream_gene_variant,,ENST00000522225,;RP11-1070A24.2,upstream_gene_variant,,ENST00000606037,;RGS20,upstream_gene_variant,,ENST00000523064,;RGS20,upstream_gene_variant,,ENST00000523414,;RGS20,upstream_gene_variant,,ENST00000518286,;RGS20,intron_variant,,ENST00000523280,;RGS20,intron_variant,,ENST00000517659,;	536	138	126	SUCCESS
RP1	6101	.	GRCh37	8	55540553	55540553	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	34	41	0	ENST00000220676.1:c.4111G>C	p.Asp1371His	p.D1371H	ENST00000220676	NM_006269.1	1371	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS6160.1	4111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGATCTA	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	deleterious(0)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Asp1371His,ENST00000220676,;	4259	41	61	SUCCESS
MUSK	4593	.	GRCh37	9	113509934	113509934	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	69	0	ENST00000374448.4:c.767C>G	p.Ser256Cys	p.S256C	ENST00000374448	NM_005592.3	256	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS48005.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCCATTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835	.	.	ENSP00000363571	.	7/15	.	.	.	.	.	.	.	.	COSM3652951,COSM3652950	7/15	nonpreferredpair	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,missense_variant,p.Ser256Cys,ENST00000374448,;MUSK,missense_variant,p.Ser256Cys,ENST00000189978,;MUSK,missense_variant,p.Ser256Cys,ENST00000416899,;	901	69	77	SUCCESS
TMEM203	94107	.	GRCh37	9	140099480	140099491	+	inframe_deletion	In_Frame_Del	DEL	CATGAGCAGCTG	CATGAGCAGCTG	-	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	CATGAGCAGCTG	CATGAGCAGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	92	0	ENST00000343666.5:c.376_387del	p.Gln126_Met129del	p.Q126_M129del	ENST00000343666	NM_053045.1	126	CAGCTGCTCATG/-	0	.	.	.	.	.	-	QLLM/-	protein_coding	YES	CCDS35185.1	376-387	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGATCATGAGCAGCTGCAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13568	.	.	ENSP00000375053	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000343666	Transcript	.	.	ENSG00000187713	28217	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM203_HUMAN	TMEM203	HGNC	.	.	UPI000006E3D0	deletion	TMEM203,inframe_deletion,p.Gln126_Met129del,ENST00000537254,;TMEM203,inframe_deletion,p.Gln126_Met129del,ENST00000343666,;NDOR1,upstream_gene_variant,,ENST00000427047,;NDOR1,upstream_gene_variant,,ENST00000458322,;TPRN,upstream_gene_variant,,ENST00000409012,;TPRN,upstream_gene_variant,,ENST00000321773,;NDOR1,upstream_gene_variant,,ENST00000371521,;TPRN,upstream_gene_variant,,ENST00000333046,;NDOR1,upstream_gene_variant,,ENST00000344894,;TPRN,upstream_gene_variant,,ENST00000541945,;	600-611	92	59	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18777771	18777771	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	30	230	0	ENST00000380548.4:c.3544G>A	p.Val1182Ile	p.V1182I	ENST00000380548	NM_001040272.5	1182	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS47954.1	3544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGTCACC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	.	.	ENSP00000369921	.	19/29	.	.	.	.	.	.	.	.	.	19/29	nonpreferredpair	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	tolerated(0.44)	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Val1182Ile,ENST00000380548,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	3883	230	174	SUCCESS
APBA1	320	.	GRCh37	9	72131731	72131731	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	11	0	ENST00000265381.4:c.396G>A	p.Gln132=	p.Q132=	ENST00000265381	NM_001163.3	132	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS6630.1	396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCTGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	.	.	ENSP00000265381	.	2/13	.	.	.	.	.	.	.	.	.	2/13	nonpreferredpair	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,synonymous_variant,p.%3D,ENST00000265381,;	619	11	24	SUCCESS
FGD3	89846	.	GRCh37	9	95738644	95738644	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	167	0	ENST00000337352.6:c.106C>T	p.Pro36Ser	p.P36S	ENST00000337352	NM_033086.2	36	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43849.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCCCTGTT	NONE	.	.	hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673	.	.	ENSP00000364631	.	3/18	.	.	.	.	.	.	.	.	.	3/18	nonpreferredpair	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated_low_confidence(0.08)	.	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,missense_variant,p.Pro36Ser,ENST00000416701,;FGD3,missense_variant,p.Pro36Ser,ENST00000375482,;FGD3,missense_variant,p.Pro36Ser,ENST00000337352,;FGD3,non_coding_transcript_exon_variant,,ENST00000468206,;FGD3,non_coding_transcript_exon_variant,,ENST00000494669,;FGD3,missense_variant,p.Pro36Ser,ENST00000467786,;	602	167	110	SUCCESS
PTCH1	5727	.	GRCh37	9	98231224	98231224	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374691153	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	199	0	ENST00000331920.6:c.2059G>T	p.Val687Leu	p.V687L	ENST00000331920	NM_000264.3	687	Gtg/Ttg	0	T:0.0005	T:0.0008	.	T:0	.	A	V/L	protein_coding	YES	CCDS6714.1	2059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACAGAGA	BUFFER|p.P689H|c.2066C>A|3,BUFFER|p.P689H|c.2066C>A|3,BUFFER|p.P688H|c.2063C>A|3,BUFFER|p.P688H|c.2063C>A|3,BUFFER|p.Q687R|c.2060A>G|3,BUFFER|p.Q688R|c.2063A>G|3,BUFFER|p.Q688R|c.2063A>G|3,BUFFER|p.Q687R|c.2060A>G|3	byCluster|by1000G	.	TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796:SF61,hmmpanther:PTHR10796	T:0	T:0	ENSP00000332353	T:0	14/24	.	.	.	.	.	.	.	.	rs374691153	14/24	nonpreferredpair	ENST00000331920	Transcript	.	T:0.0002	ENSG00000185920	9585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	T:0	tolerated(0.33)	.	PTC1_HUMAN	PTCH1	HGNC	Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN	.	UPI00001AFF9C	SNV	PTCH1,missense_variant,p.Val686Leu,ENST00000375274,;PTCH1,missense_variant,p.Val687Leu,ENST00000331920,;PTCH1,missense_variant,p.Val621Leu,ENST00000430669,;PTCH1,missense_variant,p.Val536Leu,ENST00000418258,;PTCH1,missense_variant,p.Val536Leu,ENST00000429896,;PTCH1,missense_variant,p.Val536Leu,ENST00000421141,;PTCH1,missense_variant,p.Val352Leu,ENST00000375271,;PTCH1,missense_variant,p.Val621Leu,ENST00000437951,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,non_coding_transcript_exon_variant,,ENST00000549678,;	2359	199	126	SUCCESS
MAMLD1	10046	.	GRCh37	X	149671633	149671633	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	121	469	0	ENST00000262858.5:c.2130G>C	p.Gly710=	p.G710=	ENST00000262858	NM_005491.3	710	ggG/ggC	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55526.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGAGTGA	NONE	.	.	.	.	.	ENSP00000414517	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000432680	Transcript	.	.	ENSG00000013619	2568	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAMD1_HUMAN	MAMLD1	HGNC	Q6ZUZ1_HUMAN	.	UPI00017A6EBC	SNV	MAMLD1,synonymous_variant,p.%3D,ENST00000426613,;MAMLD1,synonymous_variant,p.%3D,ENST00000262858,;MAMLD1,synonymous_variant,p.%3D,ENST00000455522,;MAMLD1,synonymous_variant,p.%3D,ENST00000370401,;MAMLD1,intron_variant,,ENST00000432680,;	.	469	330	SUCCESS
L1CAM	3897	.	GRCh37	X	153135689	153135689	+	synonymous_variant	Silent	SNP	C	C	A	rs201381558	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	26	156	0	ENST00000370060.1:c.813G>T	p.Thr271=	p.T271=	ENST00000370060	NM_001278116.1	271	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14733.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGTGGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	9/29	.	.	.	.	.	.	.	.	rs201381558	9/29	nonpreferredpair	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,synonymous_variant,p.%3D,ENST00000538883,;L1CAM,synonymous_variant,p.%3D,ENST00000370055,;L1CAM,synonymous_variant,p.%3D,ENST00000361981,;L1CAM,synonymous_variant,p.%3D,ENST00000543994,;L1CAM,synonymous_variant,p.%3D,ENST00000370057,;L1CAM,synonymous_variant,p.%3D,ENST00000370060,;L1CAM,synonymous_variant,p.%3D,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000484652,;L1CAM,downstream_gene_variant,,ENST00000460553,;	1003	156	97	SUCCESS
GNL3L	54552	.	GRCh37	X	54566597	54566597	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	88	309	0	ENST00000336470.4:c.111C>A	p.Thr37=	p.T37=	ENST00000336470	NM_019067.5	37	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14360.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACCTCCAA	NONE	.	.	hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF27	.	.	ENSP00000338573	.	4/16	.	.	.	.	.	.	.	.	.	4/16	nonpreferredpair	ENST00000336470	Transcript	.	.	ENSG00000130119	25553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNL3L_HUMAN	GNL3L	HGNC	.	.	UPI000006CF81	SNV	GNL3L,synonymous_variant,p.%3D,ENST00000360845,;GNL3L,synonymous_variant,p.%3D,ENST00000336470,;GNL3L,non_coding_transcript_exon_variant,,ENST00000489691,;	250	309	261	SUCCESS
RBM20	282996	.	GRCh37	10	112541163	112541163	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	79	0	ENST00000369519.3:c.796C>A	p.His266Asn	p.H266N	ENST00000369519	NM_001134363.1	266	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS44477.1	796	MUTECT|MUSE	.	AAGGGCACTAC	NONE	.	.	.	.	.	ENSP00000358532	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000369519	Transcript	1	.	ENSG00000203867	27424	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.223)	.	tolerated(0.12)	.	RBM20_HUMAN	RBM20	HGNC	.	.	UPI00016624E1	SNV	RBM20,missense_variant,p.His266Asn,ENST00000369519,;	854	79	87	SUCCESS
KLRK1	22914	.	GRCh37	12	10541390	10541390	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774615042	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	58	0	ENST00000240618.6:c.20G>A	p.Arg7Gln	p.R7Q	ENST00000240618	NM_007360.3	7	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8623.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCGACCA	NONE	.	.	.	.	.	ENSP00000240618	.	2/8	.	.	.	.	.	.	.	.	rs774615042	2/8	PASS	ENST00000240618	Transcript	.	.	ENSG00000213809	18788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0.04)	.	NKG2D_HUMAN	KLRK1	HGNC	Q8WZ67_HUMAN	.	UPI000013CAB1	SNV	KLRK1,missense_variant,p.Arg7Gln,ENST00000540818,;KLRK1,missense_variant,p.Arg7Gln,ENST00000240618,;RP11-277P12.20,intron_variant,,ENST00000500682,;KLRK1,missense_variant,p.Arg7Gln,ENST00000396451,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585507,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588263,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588447,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591937,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590323,;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRC4-KLRK1,intron_variant,,ENST00000591546,;	161	58	36	SUCCESS
SSH1	54434	.	GRCh37	12	109192892	109192892	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	90	0	ENST00000326495.5:c.1233A>G	p.Glu411=	p.E411=	ENST00000326495	NM_018984.3	411	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS9121.1	1233	MUTECT|MUSE	.	CCGAATTCCTT	BUFFER|p.F423F|c.1269C>T|4,BUFFER|p.F412F|c.1236C>T|4	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000315713	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000326495	Transcript	.	.	ENSG00000084112	30579	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSH1_HUMAN	SSH1	HGNC	.	.	UPI000003E894	SNV	SSH1,synonymous_variant,p.%3D,ENST00000326470,;SSH1,synonymous_variant,p.%3D,ENST00000551165,;SSH1,synonymous_variant,p.%3D,ENST00000326495,;SSH1,synonymous_variant,p.%3D,ENST00000360239,;SSH1,3_prime_UTR_variant,,ENST00000546433,;	1327	90	68	SUCCESS
TAS2R20	259295	.	GRCh37	12	11150077	11150077	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	94	0	ENST00000538986.1:c.398T>C	p.Val133Ala	p.V133A	ENST00000538986	NM_176889.2	133	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS8639.1	398	RADIA|MUTECT|MUSE	.	CCAACACTATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF35,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000441624	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000538986	Transcript	.	.	ENSG00000255837	19109	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.103)	.	deleterious(0.02)	.	T2R20_HUMAN	TAS2R20	HGNC	Q50KF4_HUMAN	.	UPI000000D822	SNV	TAS2R20,missense_variant,p.Val133Ala,ENST00000538986,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;	398	94	46	SUCCESS
YEATS4	8089	.	GRCh37	12	69753774	69753774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	38	133	1	ENST00000247843.2:c.22T>C	p.Phe8Leu	p.F8L	ENST00000247843	NM_006530.2	8	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS8990.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAATTTGGG	NONE	.	.	hmmpanther:PTHR23195	.	.	ENSP00000247843	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000247843	Transcript	.	.	ENSG00000127337	24859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.14)	.	YETS4_HUMAN	YEATS4	HGNC	F8VTR4_HUMAN	.	UPI0000043800	SNV	YEATS4,missense_variant,p.Phe8Leu,ENST00000247843,;YEATS4,missense_variant,p.Phe8Leu,ENST00000552955,;YEATS4,missense_variant,p.Phe8Leu,ENST00000548020,;YEATS4,5_prime_UTR_variant,,ENST00000549685,;YEATS4,non_coding_transcript_exon_variant,,ENST00000552949,;	292	134	136	SUCCESS
BRCA2	675	.	GRCh37	13	32906766	32906766	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs41293475	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	29	1	ENST00000380152.3:c.1151C>T	p.Ser384Phe	p.S384F	ENST00000380152		384	tCc/tTc	0	T:0.0002	.	.	.	.	T	S/F	protein_coding	YES	CCDS9344.1	1151	SOMATICSNIPER|VARSCANS	uncertain_significance,not_provided,benign,likely_benign	AATCTCCAAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,PIRSF_domain:PIRSF002397	.	T:0.0015	ENSP00000439902	.	10/28	.	.	.	.	.	.	.	.	CM065036,rs41293475	10/28	common_in_exac	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.Ser384Phe,ENST00000544455,;BRCA2,missense_variant,p.Ser261Phe,ENST00000530893,;BRCA2,missense_variant,p.Ser384Phe,ENST00000380152,;	1378	30	20	SUCCESS
ADAM21P1	145241	.	GRCh37	14	70713741	70713741	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs775007867	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	12	131	0	ENST00000530196.1:n.778G>A		p.*260*	ENST00000530196				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|VARSCANS	.	AACAACGAGCT	NONE	byFrequency	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs775007867	1/1	PASS	ENST00000530196	Transcript	.	.	ENSG00000235812	19822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ADAM21P1	HGNC	.	.	.	SNV	ADAM21P1,non_coding_transcript_exon_variant,,ENST00000530196,;ADAM21P1,non_coding_transcript_exon_variant,,ENST00000529267,;	778	131	119	SUCCESS
ADAM21	8747	.	GRCh37	14	70924853	70924853	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1163749332	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	55	0	ENST00000603540.1:c.637G>A	p.Val213Ile	p.V213I	ENST00000603540	NM_003813.3	213	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS9804.1	637	RADIA|MUTECT|VARSCANS	.	AGCTAGTTGTT	CODON|p.L212L|c.636A>C|3,CODON|p.L212L|c.636A>C|3	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01421,hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905,PROSITE_profiles:PS50215	.	.	ENSP00000474385	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000603540	Transcript	.	.	ENSG00000139985	200	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.076)	.	tolerated(0.07)	.	ADA21_HUMAN	ADAM21	HGNC	.	.	UPI000013D756	SNV	ADAM21,missense_variant,p.Val213Ile,ENST00000603540,;ADAM21,missense_variant,p.Val213Ile,ENST00000267499,;RP11-486O13.4,intron_variant,,ENST00000556646,;	895	56	41	SUCCESS
SLC30A4	7782	.	GRCh37	15	45814342	45814342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	27	156	1	ENST00000261867.4:c.211G>T	p.Ala71Ser	p.A71S	ENST00000261867	NM_013309.4	71	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10125.1	211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGCCTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF34	.	.	ENSP00000261867	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000261867	Transcript	.	.	ENSG00000104154	11015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	ZNT4_HUMAN	SLC30A4	HGNC	.	.	UPI00000526F2	SNV	SLC30A4,missense_variant,p.Ala71Ser,ENST00000261867,;SLC30A4,non_coding_transcript_exon_variant,,ENST00000559667,;HMGN2P46,intron_variant,,ENST00000568669,;HMGN2P46,intron_variant,,ENST00000409454,;HMGN2P46,intron_variant,,ENST00000396644,;HMGN2P46,intron_variant,,ENST00000396645,;HMGN2P46,intron_variant,,ENST00000313559,;HMGN2P46,downstream_gene_variant,,ENST00000495658,;	526	157	114	SUCCESS
UNC13C	440279	.	GRCh37	15	54914613	54914613	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	76	0	ENST00000260323.11:c.6195A>G	p.Val2065=	p.V2065=	ENST00000260323	NM_001080534.1	2065	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS45264.1	6195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTAAAAGG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000260323	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;UNC13C,5_prime_UTR_variant,,ENST00000560537,;UNC13C,5_prime_UTR_variant,,ENST00000539562,;	6195	76	63	SUCCESS
ZNF267	10308	.	GRCh37	16	31896503	31896503	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	77	0	ENST00000300870.10:c.152A>T	p.Asp51Val	p.D51V	ENST00000300870	NM_003414.5	51	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS32440.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGACCTGA	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377,PROSITE_profiles:PS50805	.	.	ENSP00000300870	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000300870	Transcript	.	.	ENSG00000185947	13060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0.02)	.	ZN267_HUMAN	ZNF267	HGNC	H3BPW2_HUMAN	.	UPI000045696F	SNV	ZNF267,missense_variant,p.Asp51Val,ENST00000300870,;ZNF267,missense_variant,p.Asp51Val,ENST00000394846,;ZNF267,missense_variant,p.Asp19Val,ENST00000562971,;ZNF267,3_prime_UTR_variant,,ENST00000561814,;ZNF267,3_prime_UTR_variant,,ENST00000566541,;	361	77	75	SUCCESS
SPACA6P	0	.	GRCh37	19	52196648	52196648	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	58	0	ENST00000573266.1:n.52C>A		p.*18*	ENST00000573266				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	CATACCCTTCC	NONE	.	.	.	.	.	.	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000573266	Transcript	.	.	ENSG00000182310	27113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SPACA6P	HGNC	.	.	.	SNV	SPACA6P,non_coding_transcript_exon_variant,,ENST00000576093,;SPACA6P,non_coding_transcript_exon_variant,,ENST00000573266,;SPACA6P-AS,non_coding_transcript_exon_variant,,ENST00000602324,;MIRLET7E,downstream_gene_variant,,ENST00000362102,;MIR99B,downstream_gene_variant,,ENST00000384819,;MIR125A,downstream_gene_variant,,ENST00000385273,;SPACA6P,upstream_gene_variant,,ENST00000574072,;SPACA6P,upstream_gene_variant,,ENST00000576494,;SPACA6P,upstream_gene_variant,,ENST00000571328,;AC018755.2,non_coding_transcript_exon_variant,,ENST00000331594,;	52	58	44	SUCCESS
MZF1	7593	.	GRCh37	19	59074590	59074612	+	frameshift_variant	Frame_Shift_Del	DEL	CCCCGCCCCCAGTGCTGGGGCGG	CCCCGCCCCCAGTGCTGGGGCGG	-	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	CCCCGCCCCCAGTGCTGGGGCGG	CCCCGCCCCCAGTGCTGGGGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	23	0	ENST00000215057.2:c.1032_1054del	p.Arg345GlyfsTer2	p.R345Gfs*2	ENST00000215057	NM_001267033.1	344	ggCCGCCCCAGCACTGGGGGCGGGGtg/ggtg	0	.	.	.	.	.	-	GRPSTGGGV/GX	protein_coding	YES	CCDS12988.1	1032-1054	INDELOCATOR*|VARSCANI*|PINDEL	.	TAACCACCCCGCCCCCAGTGCTGGGGCGGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24384:SF2,hmmpanther:PTHR24384	.	.	ENSP00000215057	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000215057	Transcript	.	.	ENSG00000099326	13108	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MZF1_HUMAN	MZF1	HGNC	M0R2C0_HUMAN	.	UPI0000072863	deletion	MZF1,frameshift_variant,p.Arg345GlyfsTer2,ENST00000599369,;MZF1,frameshift_variant,p.Ala263ValfsTer384,ENST00000594234,;MZF1,frameshift_variant,p.Arg345GlyfsTer2,ENST00000215057,;UBE2M,upstream_gene_variant,,ENST00000253023,;UBE2M,upstream_gene_variant,,ENST00000595957,;AC016629.8,intron_variant,,ENST00000600534,;AC016629.8,intron_variant,,ENST00000593642,;AC016629.8,intron_variant,,ENST00000600726,;MZF1,non_coding_transcript_exon_variant,,ENST00000600004,;MZF1,downstream_gene_variant,,ENST00000595245,;	1593-1615	23	58	SUCCESS
AMY2B	280	.	GRCh37	1	104120169	104120169	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1015120800	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	118	434	1	ENST00000361355.4:c.1159A>G	p.Ile387Val	p.I387V	ENST00000361355	NM_020978.4	387	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS782.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTATTAAT	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000354610	.	10/12	.	.	.	.	.	.	.	.	COSM674543	10/12	PASS	ENST00000361355	Transcript	.	.	ENSG00000240038	478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.007)	.	tolerated(0.1)	1	AMY2B_HUMAN	AMY2B	HGNC	C9JWK7_HUMAN,C9J2Z5_HUMAN	.	UPI0000000CB1	SNV	AMY2B,missense_variant,p.Ile387Val,ENST00000361355,;AMY2B,non_coding_transcript_exon_variant,,ENST00000481821,;AMY2B,intron_variant,,ENST00000491397,;AMY2B,downstream_gene_variant,,ENST00000462971,;AMY2B,intron_variant,,ENST00000477657,;	1775	436	316	SUCCESS
SCAMP3	10067	.	GRCh37	1	155226183	155226183	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	76	0	ENST00000302631.3:c.925G>C	p.Ala309Pro	p.A309P	ENST00000302631	NM_005698.3	309	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS1105.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGCACCTG	NONE	.	.	hmmpanther:PTHR10687:SF6,hmmpanther:PTHR10687	.	.	ENSP00000307275	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000302631	Transcript	.	.	ENSG00000116521	10565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	SCAM3_HUMAN	SCAMP3	HGNC	.	.	UPI000013E800	SNV	SCAMP3,missense_variant,p.Ala283Pro,ENST00000355379,;SCAMP3,missense_variant,p.Ala309Pro,ENST00000302631,;FAM189B,upstream_gene_variant,,ENST00000368368,;FAM189B,upstream_gene_variant,,ENST00000491082,;FAM189B,upstream_gene_variant,,ENST00000350210,;FAM189B,upstream_gene_variant,,ENST00000361361,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000472397,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000490999,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000478737,;SCAMP3,downstream_gene_variant,,ENST00000465312,;SCAMP3,downstream_gene_variant,,ENST00000462151,;SCAMP3,downstream_gene_variant,,ENST00000497470,;FAM189B,upstream_gene_variant,,ENST00000472550,;SCAMP3,downstream_gene_variant,,ENST00000480219,;FAM189B,upstream_gene_variant,,ENST00000481822,;FAM189B,upstream_gene_variant,,ENST00000368366,;FAM189B,upstream_gene_variant,,ENST00000487649,;FAM189B,upstream_gene_variant,,ENST00000497941,;	1033	76	74	SUCCESS
TMEM63A	9725	.	GRCh37	1	226047035	226047035	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	29	248	1	ENST00000366835.3:c.1238T>C	p.Ile413Thr	p.I413T	ENST00000366835	NM_014698.2	413	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31042.1	1238	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGATAGAG	NONE	.	.	hmmpanther:PTHR13018,hmmpanther:PTHR13018:SF24,Pfam_domain:PF02714	.	.	ENSP00000355800	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000366835	Transcript	.	.	ENSG00000196187	29118	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	deleterious(0.03)	.	TM63A_HUMAN	TMEM63A	HGNC	Q2HIZ8_HUMAN	.	UPI000006DE50	SNV	TMEM63A,missense_variant,p.Ile413Thr,ENST00000366835,;TMEM63A,downstream_gene_variant,,ENST00000537914,;TMEM63A,non_coding_transcript_exon_variant,,ENST00000487971,;TMEM63A,downstream_gene_variant,,ENST00000474478,;TMEM63A,downstream_gene_variant,,ENST00000483779,;	1509	249	167	SUCCESS
RYR2	6262	.	GRCh37	1	237947912	237947912	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	84	0	ENST00000366574.2:c.12900C>T	p.Ser4300=	p.S4300=	ENST00000366574	NM_001035.2	4300	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55691.1	12900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCGTTTT	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Transmembrane_helices:TMhelix	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	COSM906265	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	13217	84	60	SUCCESS
NKAIN1	79570	.	GRCh37	1	31654558	31654558	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	72	252	0	ENST00000373736.2:c.616T>A	p.Ser206Thr	p.S206T	ENST00000373736	NM_024522.2	206	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS339.2	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGACCTGC	NONE	.	.	hmmpanther:PTHR13084,Pfam_domain:PF05640	.	.	ENSP00000362841	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373736	Transcript	.	.	ENSG00000084628	25743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	NKAI1_HUMAN	NKAIN1	HGNC	R4GNE2_HUMAN	.	UPI000004A116	SNV	NKAIN1,missense_variant,p.Ser135Thr,ENST00000398657,;NKAIN1,missense_variant,p.Ser150Thr,ENST00000526106,;NKAIN1,missense_variant,p.Ser206Thr,ENST00000373736,;NKAIN1,missense_variant,p.Ser162Thr,ENST00000263693,;NKAIN1,downstream_gene_variant,,ENST00000530145,;NKAIN1,upstream_gene_variant,,ENST00000528449,;NKAIN1,downstream_gene_variant,,ENST00000533581,;	623	252	256	SUCCESS
ZNF362	149076	.	GRCh37	1	33745866	33745866	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	262	17	319	1	ENST00000373428.5:c.491T>A	p.Ile164Asn	p.I164N	ENST00000373428		164	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS377.1	491	MUTECT|MUSE	.	CCTCATCTCAG	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF454	.	.	ENSP00000446335	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000539719	Transcript	.	.	ENSG00000160094	18079	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.471)	.	deleterious(0.03)	.	ZN362_HUMAN	ZNF362	HGNC	F5H055_HUMAN	.	UPI000013E046	SNV	ZNF362,missense_variant,p.Ile164Asn,ENST00000373428,;ZNF362,missense_variant,p.Ile151Asn,ENST00000483388,;ZNF362,missense_variant,p.Ile164Asn,ENST00000539719,;ZNF362,upstream_gene_variant,,ENST00000477934,;	661	320	279	SUCCESS
SLC13A3	64849	.	GRCh37	20	45242105	45242105	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs755899645	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	130	0	ENST00000279027.4:c.371C>G	p.Pro124Arg	p.P124R	ENST00000279027	NM_001193342.1	124	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS13400.1	371	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGGCTGG	NONE	byFrequency	.	hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939	.	.	ENSP00000279027	.	2/13	.	.	.	.	.	.	.	.	rs755899645	2/13	PASS	ENST00000279027	Transcript	.	.	ENSG00000158296	14430	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S13A3_HUMAN	SLC13A3	HGNC	F6WI18_HUMAN,C9J7L4_HUMAN	.	UPI000013542F	SNV	SLC13A3,missense_variant,p.Pro77Arg,ENST00000472148,;SLC13A3,missense_variant,p.Pro77Arg,ENST00000468915,;SLC13A3,missense_variant,p.Pro77Arg,ENST00000417157,;SLC13A3,missense_variant,p.Pro124Arg,ENST00000339636,;SLC13A3,missense_variant,p.Pro124Arg,ENST00000372121,;SLC13A3,missense_variant,p.Pro124Arg,ENST00000413164,;SLC13A3,missense_variant,p.Pro87Arg,ENST00000420568,;SLC13A3,missense_variant,p.Pro124Arg,ENST00000279027,;SLC13A3,missense_variant,p.Pro77Arg,ENST00000495082,;SLC13A3,missense_variant,p.Pro77Arg,ENST00000396360,;SLC13A3,missense_variant,p.Pro77Arg,ENST00000290317,;SLC13A3,5_prime_UTR_variant,,ENST00000435032,;	390	130	115	SUCCESS
TUBA8	51807	.	GRCh37	22	18604415	18604415	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	50	221	0	ENST00000330423.3:c.173A>T	p.Asn58Ile	p.N58I	ENST00000330423	NM_018943.2	58	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS13751.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAATGGGA	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF52,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01162,Prints_domain:PR01161	.	.	ENSP00000333326	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000330423	Transcript	.	.	ENSG00000183785	12410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious_low_confidence(0.01)	.	TBA8_HUMAN	TUBA8	HGNC	C9K0S6_HUMAN	.	UPI0000136990	SNV	TUBA8,missense_variant,p.Asn58Ile,ENST00000330423,;TUBA8,missense_variant,p.Asn82Ile,ENST00000416740,;TUBA8,5_prime_UTR_variant,,ENST00000426208,;TUBA8,5_prime_UTR_variant,,ENST00000316027,;PEX26,missense_variant,p.Met181Leu,ENST00000474897,;	246	221	193	SUCCESS
ZNF280B	140883	.	GRCh37	22	22843497	22843497	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	65	0	ENST00000360412.2:c.227A>T	p.Asp76Val	p.D76V	ENST00000360412	NM_080764.2	76	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS13799.1	227	MUTECT|MUSE	.	GGTGATCATAC	NONE	.	.	Pfam_domain:PF13836,hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	deleterious(0)	.	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,missense_variant,p.Asp76Val,ENST00000406426,;ZNF280B,missense_variant,p.Asp76Val,ENST00000360412,;	1003	65	60	SUCCESS
LDOC1L	0	.	GRCh37	22	44892793	44892793	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	47	0	ENST00000341255.3:c.644G>T	p.Gly215Val	p.G215V	ENST00000341255	NM_032287.2	215	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33662.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCCCGTG	NONE	.	.	.	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious_low_confidence(0)	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,missense_variant,p.Gly215Val,ENST00000341255,;	1154	47	42	SUCCESS
IL1R1	3554	.	GRCh37	2	102792895	102792895	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750044203	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	113	0	ENST00000410023.1:c.1386C>G	p.Ser462Arg	p.S462R	ENST00000410023		462	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS2055.1	1386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCTGGCT	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF19,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000386380	.	12/12	.	.	.	.	.	.	.	.	rs750044203	12/12	PASS	ENST00000410023	Transcript	.	.	ENSG00000115594	5993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.1)	.	IL1R1_HUMAN	IL1R1	HGNC	C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN	.	UPI0000034759	SNV	IL1R1,missense_variant,p.Ser431Arg,ENST00000409929,;IL1R1,missense_variant,p.Ser462Arg,ENST00000233946,;IL1R1,missense_variant,p.Ser462Arg,ENST00000410023,;IL1R1,3_prime_UTR_variant,,ENST00000424272,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,downstream_gene_variant,,ENST00000409288,;IL1R1,downstream_gene_variant,,ENST00000409329,;IL1R1,downstream_gene_variant,,ENST00000428279,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	1704	113	88	SUCCESS
KIF1A	547	.	GRCh37	2	241697828	241697828	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	13	230	0	ENST00000320389.7:c.2504C>A	p.Thr835Asn	p.T835N	ENST00000320389	NM_004321.6	835	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS58757.1	2531	MUTECT|MUSE	.	CGCCGGTCACC	NONE	.	.	hmmpanther:PTHR24115:SF361,hmmpanther:PTHR24115,Pfam_domain:PF12423	.	.	ENSP00000438388	.	26/50	.	.	.	.	.	.	.	.	.	26/50	PASS	ENST00000498729	Transcript	.	.	ENSG00000130294	888	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.586)	.	deleterious(0)	.	KIF1A_HUMAN	KIF1A	HGNC	G1UI30_HUMAN,C9JBH1_HUMAN	.	UPI0002065B81	SNV	KIF1A,missense_variant,p.Thr844Asn,ENST00000498729,;KIF1A,missense_variant,p.Thr835Asn,ENST00000320389,;KIF1A,missense_variant,p.Thr844Asn,ENST00000404283,;	2778	230	181	SUCCESS
CHST2	9435	.	GRCh37	3	142840928	142840928	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs539420111	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	9	127	1	ENST00000309575.3:c.1270C>T	p.Arg424Trp	p.R424W	ENST00000309575	NM_004267.4	424	Cgg/Tgg	0	.	A:0	.	A:0	.	T	R/W	protein_coding	YES	CCDS3129.1	1270	MUTECT|MUSE	.	TGGTGCGGTAC	NONE	by1000G	.	hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	A:0	.	ENSP00000307911	A:0	2/2	.	.	.	.	.	.	.	.	rs539420111,COSM160003	2/2	PASS	ENST00000309575	Transcript	.	A:0.0002	ENSG00000175040	1970	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.991)	A:0.001	deleterious(0)	0,1	CHST2_HUMAN	CHST2	HGNC	.	.	UPI0000073CBC	SNV	CHST2,missense_variant,p.Arg424Trp,ENST00000309575,;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	2654	128	131	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	72	0	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2694.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAAACTAC	SITE|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	72	60	SUCCESS
KCTD8	386617	.	GRCh37	4	44176930	44176930	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	51	0	ENST00000360029.3:c.1299G>A	p.Lys433=	p.K433=	ENST00000360029	NM_198353.2	433	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS3467.1	1299	MUTECT|MUSE|VARSCANS	.	CTTAGCTTCTC	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,synonymous_variant,p.%3D,ENST00000360029,;KCTD8,downstream_gene_variant,,ENST00000515268,;	1583	51	45	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6083468	6083468	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	83	0	ENST00000282924.5:c.969A>G	p.Arg323=	p.R323=	ENST00000282924	NM_144720.3	323	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS47005.1	969	MUTECT|MUSE	.	GTCTCTCGTGA	NONE	.	.	hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,synonymous_variant,p.%3D,ENST00000409021,;JAKMIP1,synonymous_variant,p.%3D,ENST00000409831,;JAKMIP1,synonymous_variant,p.%3D,ENST00000282924,;JAKMIP1,synonymous_variant,p.%3D,ENST00000409371,;JAKMIP1,synonymous_variant,p.%3D,ENST00000410077,;JAKMIP1,non_coding_transcript_exon_variant,,ENST00000457227,;JAKMIP1,synonymous_variant,p.%3D,ENST00000473053,;	1419	83	61	SUCCESS
PDZD2	23037	.	GRCh37	5	32074424	32074424	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	63	0	ENST00000438447.1:c.3212G>T	p.Gly1071Val	p.G1071V	ENST00000438447		1071	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34137.1	3212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGAAGCT	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	.	.	ENSP00000402033	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.729)	.	deleterious(0.01)	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,missense_variant,p.Gly1071Val,ENST00000438447,;PDZD2,missense_variant,p.Gly1071Val,ENST00000282493,;PDZD2,downstream_gene_variant,,ENST00000513184,;PDZD2,upstream_gene_variant,,ENST00000503961,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	3600	63	52	SUCCESS
IL6ST	3572	.	GRCh37	5	55260056	55260067	+	inframe_deletion	In_Frame_Del	DEL	GACAAAATACAC	GACAAAATACAC	-	.	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	GACAAAATACAC	GACAAAATACAC	.	.	.	.	.	.	.	.	.	.	.	.	.	94	15	200	0	ENST00000336909.5:c.565_576del	p.Val189_Val192del	p.V189_V192del	ENST00000336909		189	GTGTATTTTGTC/-	0	.	.	.	.	.	-	VYFV/-	protein_coding	YES	CCDS3971.1	565-576	INDELOCATOR*|PINDEL	.	AATGTTGACAAAATACACAGTAG	CODON|p.S187_Y190delSTVY|c.560_571del12|3,CODON|p.Y186_Y190delYSTVY|c.557_571del15|3	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	COSM3666639	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000522633,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000381287,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000336909,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000381298,;IL6ST,inframe_deletion,p.Cys47_Ser50del,ENST00000396816,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000536319,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000381294,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Val189_Val192del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	878-889	200	109	SUCCESS
DHX16	8449	.	GRCh37	6	30624804	30624804	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	117	1	ENST00000376442.3:c.2073T>C	p.Asp691=	p.D691=	ENST00000376442	NM_001164239.1	691	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS4685.1	2073	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGATCCAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934,PROSITE_profiles:PS51194	.	.	ENSP00000365625	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	SNV	DHX16,synonymous_variant,p.%3D,ENST00000376437,;DHX16,synonymous_variant,p.%3D,ENST00000376442,;C6orf136,downstream_gene_variant,,ENST00000467801,;C6orf136,downstream_gene_variant,,ENST00000528347,;C6orf136,downstream_gene_variant,,ENST00000376473,;C6orf136,downstream_gene_variant,,ENST00000446773,;C6orf136,downstream_gene_variant,,ENST00000465699,;C6orf136,downstream_gene_variant,,ENST00000468785,;C6orf136,downstream_gene_variant,,ENST00000376471,;C6orf136,downstream_gene_variant,,ENST00000293604,;DHX16,downstream_gene_variant,,ENST00000480966,;C6orf136,downstream_gene_variant,,ENST00000463794,;C6orf136,downstream_gene_variant,,ENST00000460172,;C6orf136,downstream_gene_variant,,ENST00000487873,;C6orf136,downstream_gene_variant,,ENST00000488383,;	2269	118	98	SUCCESS
MMS22L	253714	.	GRCh37	6	97711252	97711252	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	45	0	ENST00000275053.4:c.901A>G	p.Ile301Val	p.I301V	ENST00000275053	NM_198468.2	301	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5039.1	901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAATAAGTA	NONE	.	.	Pfam_domain:PF14910	.	.	ENSP00000275053	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000275053	Transcript	.	.	ENSG00000146263	21475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	tolerated(0.06)	.	MMS22_HUMAN	MMS22L	HGNC	H9KVD8_HUMAN	.	UPI00003673C9	SNV	MMS22L,missense_variant,p.Ile301Val,ENST00000275053,;MMS22L,missense_variant,p.Ile301Val,ENST00000369251,;MMS22L,intron_variant,,ENST00000510018,;MMS22L,upstream_gene_variant,,ENST00000482634,;MMS22L,non_coding_transcript_exon_variant,,ENST00000506256,;MMS22L,non_coding_transcript_exon_variant,,ENST00000484170,;MMS22L,3_prime_UTR_variant,,ENST00000509383,;MMS22L,non_coding_transcript_exon_variant,,ENST00000511335,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508976,;MMS22L,downstream_gene_variant,,ENST00000496119,;MMS22L,downstream_gene_variant,,ENST00000508820,;	1167	45	26	SUCCESS
EPHB4	2050	.	GRCh37	7	100402889	100402889	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	13	195	0	ENST00000358173.3:c.2733T>A	p.Ser911=	p.S911=	ENST00000358173	NM_004444.4	911	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5706.1	2733	MUTECT|MUSE	.	CCCACAGAGCC	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR24416:SF296,hmmpanther:PTHR24416,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF47769	.	.	ENSP00000350896	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000358173	Transcript	.	.	ENSG00000196411	3395	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHB4_HUMAN	EPHB4	HGNC	Q541P7_HUMAN	.	UPI0000000DBB	SNV	EPHB4,synonymous_variant,p.%3D,ENST00000358173,;EPHB4,intron_variant,,ENST00000360620,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,downstream_gene_variant,,ENST00000467515,;EPHB4,downstream_gene_variant,,ENST00000478459,;EPHB4,downstream_gene_variant,,ENST00000492403,;	3202	195	165	SUCCESS
KMT2C	58508	.	GRCh37	7	151927100	151927100	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774005661	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	870	40	1169	0	ENST00000262189.6:c.2884G>T	p.Val962Phe	p.V962F	ENST00000262189	NM_170606.2	962	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS5931.1	2884	MUTECT|MUSE	.	ACAAACTACAC	NONE	byFrequency	.	PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000262189	.	18/59	.	.	.	.	.	.	.	.	rs774005661	18/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Val962Phe,ENST00000355193,;KMT2C,missense_variant,p.Val118Phe,ENST00000418673,;KMT2C,missense_variant,p.Val962Phe,ENST00000262189,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	3103	1169	911	SUCCESS
ZNF462	58499	.	GRCh37	9	109687663	109687663	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758352488	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	44	224	0	ENST00000277225.5:c.1470G>T	p.Gln490His	p.Q490H	ENST00000277225		490	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS35096.1	1470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGTGTCA	NONE	.	.	PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000277225	.	3/13	.	.	.	.	.	.	.	.	rs758352488	3/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,missense_variant,p.Gln490His,ENST00000277225,;ZNF462,missense_variant,p.Gln490His,ENST00000457913,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000441147,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000480607,;	1759	224	139	SUCCESS
PRDM12	59335	.	GRCh37	9	133556672	133556672	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	9	0	ENST00000253008.2:c.720G>T	p.Ala240=	p.A240=	ENST00000253008	NM_021619.2	240	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6934.1	720	MUTECT|MUSE	.	CCCGCGGGCCG	NONE	.	.	PIRSF_domain:PIRSF037163	.	.	ENSP00000253008	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000253008	Transcript	.	.	ENSG00000130711	13997	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRD12_HUMAN	PRDM12	HGNC	.	.	UPI0000132184	SNV	PRDM12,synonymous_variant,p.%3D,ENST00000253008,;	780	9	55	SUCCESS
TLE1	7088	.	GRCh37	9	84268895	84268895	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	73	0	ENST00000376499.3:c.291T>G	p.Ser97=	p.S97=	ENST00000376499	NM_005077.3	97	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6661.1	291	MUTECT|MUSE	.	TCCTGAGACAG	NONE	.	.	Pfam_domain:PF03920,hmmpanther:PTHR10814	.	.	ENSP00000365682	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,synonymous_variant,p.%3D,ENST00000376499,;TLE1,synonymous_variant,p.%3D,ENST00000376463,;TLE1,synonymous_variant,p.%3D,ENST00000418319,;TLE1,5_prime_UTR_variant,,ENST00000376472,;	1356	73	46	SUCCESS
HSD17B3	3293	.	GRCh37	9	99007649	99007649	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770086045	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	120	0	ENST00000375263.3:c.584A>G	p.Tyr195Cys	p.Y195C	ENST00000375263	NM_000197.1	195	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6716.1	584	MUTECT|MUSE	.	TGGAGTAGAGA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Gene3D:3.40.50.720,Pfam_domain:PF00106,PROSITE_patterns:PS00061,hmmpanther:PTHR24316:SF296,hmmpanther:PTHR24316	.	.	ENSP00000364412	.	8/11	.	.	.	.	.	.	.	.	rs770086045	8/11	PASS	ENST00000375263	Transcript	.	.	ENSG00000130948	5212	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DHB3_HUMAN	HSD17B3	HGNC	Q6FH62_HUMAN	.	UPI0000001643	SNV	HSD17B3,missense_variant,p.Tyr195Cys,ENST00000375263,;HSD17B3,missense_variant,p.Tyr195Cys,ENST00000375262,;RP11-240L7.4,upstream_gene_variant,,ENST00000448857,;HSD17B3,non_coding_transcript_exon_variant,,ENST00000494814,;HSD17B3,non_coding_transcript_exon_variant,,ENST00000464104,;HSD17B3,upstream_gene_variant,,ENST00000484816,;	632	120	89	SUCCESS
NCBP2L	392517	.	GRCh37	X	107037878	107037878	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NL-01	TCGA-DD-A4NL-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	41	0	ENST00000509000.2:c.428G>T	p.Gly143Val	p.G143V	ENST00000509000		143	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	428	MUSE|VARSCANS	.	TTCTGGTAGAG	NONE	.	.	Superfamily_domains:SSF54928,hmmpanther:PTHR18847:SF3,hmmpanther:PTHR18847	.	.	ENSP00000476955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000509000	Transcript	.	.	ENSG00000170935	31795	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	.	NCBP2L	HGNC	.	.	UPI000059DB72	SNV	NCBP2L,missense_variant,p.Gly143Val,ENST00000509000,;NCBP2L,downstream_gene_variant,,ENST00000372379,;	626	41	36	SUCCESS
GTF2H1	2965	.	GRCh37	11	18369105	18369105	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	21	0	ENST00000265963.4:c.838-30A>T		p.*280*	ENST00000265963	NM_005316.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7838.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAAAAAA	NONE	.	.	.	.	.	ENSP00000265963	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265963	Transcript	.	.	ENSG00000110768	4655	.	.	MODIFIER	7/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF2H1_HUMAN	GTF2H1	HGNC	F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN	.	UPI0000136C8A	SNV	GTF2H1,5_prime_UTR_variant,,ENST00000530496,;GTF2H1,intron_variant,,ENST00000265963,;GTF2H1,intron_variant,,ENST00000534641,;GTF2H1,intron_variant,,ENST00000453096,;GTF2H1,intron_variant,,ENST00000524753,;GTF2H1,upstream_gene_variant,,ENST00000526630,;GTF2H1,intron_variant,,ENST00000418116,;GTF2H1,upstream_gene_variant,,ENST00000526282,;GTF2H1,upstream_gene_variant,,ENST00000528427,;	.	21	30	SUCCESS
NAV2	89797	.	GRCh37	11	20083871	20083871	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750879622	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	21	19	0	ENST00000396087.3:c.5018C>T	p.Ser1673Phe	p.S1673F	ENST00000396087	NM_001244963.1	1673	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS58126.1	5018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCCTTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	22/41	.	.	.	.	.	.	.	.	rs750879622,COSM1703701	22/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,missense_variant,p.Ser1553Phe,ENST00000360655,;NAV2,missense_variant,p.Ser666Phe,ENST00000525322,;NAV2,missense_variant,p.Ser681Phe,ENST00000533917,;NAV2,missense_variant,p.Ser1602Phe,ENST00000527559,;NAV2,missense_variant,p.Ser1617Phe,ENST00000349880,;NAV2,missense_variant,p.Ser1673Phe,ENST00000396087,;NAV2,missense_variant,p.Ser1617Phe,ENST00000396085,;NAV2,missense_variant,p.Ser1604Phe,ENST00000540292,;NAV2,missense_variant,p.Ser681Phe,ENST00000311043,;	5117	19	39	SUCCESS
GAS2	2620	.	GRCh37	11	22777439	22777439	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	34	84	0	ENST00000278187.3:c.663C>G	p.Phe221Leu	p.F221L	ENST00000278187	NM_177553.2	221	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7858.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCTGTGT	NONE	.	.	PROSITE_profiles:PS51460,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF114,Pfam_domain:PF02187,Gene3D:1v5rA00,SMART_domains:SM00243,Superfamily_domains:0050058	.	.	ENSP00000401145	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000454584	Transcript	.	.	ENSG00000148935	4167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.438)	.	tolerated(0.11)	.	GAS2_HUMAN	GAS2	HGNC	E9PRR5_HUMAN,E9PQ74_HUMAN,E9PQ37_HUMAN,E9PM28_HUMAN	.	UPI000000D98C	SNV	GAS2,missense_variant,p.Phe221Leu,ENST00000433790,;GAS2,missense_variant,p.Phe221Leu,ENST00000278187,;GAS2,missense_variant,p.Phe221Leu,ENST00000454584,;GAS2,non_coding_transcript_exon_variant,,ENST00000526665,;GAS2,3_prime_UTR_variant,,ENST00000524701,;	968	84	124	SUCCESS
CERS5	91012	.	GRCh37	12	50529577	50529577	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	39	97	0	ENST00000317551.6:c.810C>T	p.Asp270=	p.D270=	ENST00000317551	NM_147190.2	270	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS8801.1	810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTGTCACA	NONE	.	.	PIRSF_domain:PIRSF005225,SMART_domains:SM00724,Pfam_domain:PF03798,hmmpanther:PTHR12560:SF8,hmmpanther:PTHR12560,PROSITE_profiles:PS50922	.	.	ENSP00000325485	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000317551	Transcript	.	.	ENSG00000139624	23749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CERS5_HUMAN	CERS5	HGNC	F8W1K4_HUMAN	.	UPI000007101F	SNV	CERS5,synonymous_variant,p.%3D,ENST00000422340,;CERS5,synonymous_variant,p.%3D,ENST00000550919,;CERS5,synonymous_variant,p.%3D,ENST00000547800,;CERS5,synonymous_variant,p.%3D,ENST00000317551,;CERS5,synonymous_variant,p.%3D,ENST00000550547,;CERS5,upstream_gene_variant,,ENST00000553122,;CERS5,non_coding_transcript_exon_variant,,ENST00000547138,;RP4-605O3.4,intron_variant,,ENST00000548468,;CERS5,upstream_gene_variant,,ENST00000548942,;CERS5,synonymous_variant,p.%3D,ENST00000551697,;CERS5,3_prime_UTR_variant,,ENST00000542320,;CERS5,3_prime_UTR_variant,,ENST00000547787,;CERS5,3_prime_UTR_variant,,ENST00000438450,;CERS5,3_prime_UTR_variant,,ENST00000380189,;CERS5,non_coding_transcript_exon_variant,,ENST00000546676,;CERS5,non_coding_transcript_exon_variant,,ENST00000551005,;CERS5,upstream_gene_variant,,ENST00000550079,;CERS5,upstream_gene_variant,,ENST00000546406,;CERS5,upstream_gene_variant,,ENST00000551757,;CERS5,downstream_gene_variant,,ENST00000549089,;	935	97	104	SUCCESS
AGAP2	116986	.	GRCh37	12	58125709	58125709	+	synonymous_variant	Silent	SNP	G	G	A	rs750480607	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	47	74	0	ENST00000547588.1:c.1836C>T	p.Leu612=	p.L612=	ENST00000547588	NM_001122772.2	612	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44932.1	1836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGGAGGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218	.	.	ENSP00000449241	.	8/19	.	.	.	.	.	.	.	.	rs750480607	8/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,synonymous_variant,p.%3D,ENST00000257897,;AGAP2,synonymous_variant,p.%3D,ENST00000328568,;AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2,upstream_gene_variant,,ENST00000549129,;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,;	1836	74	101	SUCCESS
PPFIA2	8499	.	GRCh37	12	81657137	81657137	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	5	119	0	ENST00000549396.1:c.3588C>A	p.Thr1196=	p.T1196=	ENST00000549396	NM_003625.3	1196	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS55857.1	3588	MUTECT|MUSE	.	CTCCAGGTTGA	NONE	.	.	hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,synonymous_variant,p.%3D,ENST00000333447,;PPFIA2,synonymous_variant,p.%3D,ENST00000407050,;PPFIA2,synonymous_variant,p.%3D,ENST00000541570,;PPFIA2,synonymous_variant,p.%3D,ENST00000443686,;PPFIA2,synonymous_variant,p.%3D,ENST00000550359,;PPFIA2,synonymous_variant,p.%3D,ENST00000548586,;PPFIA2,synonymous_variant,p.%3D,ENST00000549396,;PPFIA2,synonymous_variant,p.%3D,ENST00000549325,;PPFIA2,synonymous_variant,p.%3D,ENST00000541017,;PPFIA2,synonymous_variant,p.%3D,ENST00000550584,;PPFIA2,synonymous_variant,p.%3D,ENST00000552948,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	3749	119	157	SUCCESS
EDNRB	1910	.	GRCh37	13	78474006	78474006	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	14	32	0	ENST00000334286.5:c.1182A>G	p.Lys394=	p.K394=	ENST00000334286	NM_001122659.2	394	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS55902.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTTTGAA	NONE	.	.	hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366416	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,synonymous_variant,p.%3D,ENST00000446573,;EDNRB,synonymous_variant,p.%3D,ENST00000377211,;EDNRB,synonymous_variant,p.%3D,ENST00000334286,;	1605	32	18	SUCCESS
UNC13C	440279	.	GRCh37	15	54914531	54914531	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	85	0	ENST00000260323.11:c.6114del	p.Ser2039ProfsTer27	p.S2039Pfs*27	ENST00000260323	NM_001080534.1	2038	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS45264.1	6113	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCGTTCCTCCA	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	30/32	.	.	.	.	.	.	.	.	COSM3502509,COSM3502510,COSM3502511	30/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	1,1,1	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	deletion	UNC13C,frameshift_variant,p.Ser2037ProfsTer27,ENST00000537900,;UNC13C,frameshift_variant,p.Ser2039ProfsTer27,ENST00000545554,;UNC13C,frameshift_variant,p.Ser2039ProfsTer27,ENST00000260323,;UNC13C,5_prime_UTR_variant,,ENST00000560537,;UNC13C,5_prime_UTR_variant,,ENST00000539562,;	6113	85	138	SUCCESS
ITGAL	3683	.	GRCh37	16	30525112	30525112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	63	105	1	ENST00000356798.6:c.2807A>G	p.Tyr936Cys	p.Y936C	ENST00000356798	NM_002209.2	936	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32433.1	2807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTATGTCA	NONE	.	.	Pfam_domain:PF08441,hmmpanther:PTHR23220:SF70,hmmpanther:PTHR23220	.	.	ENSP00000349252	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000356798	Transcript	.	.	ENSG00000005844	6148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ITAL_HUMAN	ITGAL	HGNC	I3L468_HUMAN,H3BNL5_HUMAN	.	UPI000013C4FF	SNV	ITGAL,missense_variant,p.Tyr170Cys,ENST00000433423,;ITGAL,missense_variant,p.Tyr852Cys,ENST00000358164,;ITGAL,missense_variant,p.Tyr936Cys,ENST00000356798,;ITGAL,non_coding_transcript_exon_variant,,ENST00000566267,;ITGAL,downstream_gene_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000563615,;	2987	107	114	SUCCESS
ITGAM	3684	.	GRCh37	16	31282347	31282347	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1567249191	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	57	141	1	ENST00000287497.8:c.500G>A	p.Arg167Gln	p.R167Q	ENST00000287497		167	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54004.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGGCGGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000441691	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,missense_variant,p.Arg167Gln,ENST00000287497,;ITGAM,missense_variant,p.Arg167Gln,ENST00000544665,;ITGAM,upstream_gene_variant,,ENST00000567031,;RNU7-199P,upstream_gene_variant,,ENST00000517067,;ITGAM,upstream_gene_variant,,ENST00000570242,;	571	142	181	SUCCESS
BBS2	583	.	GRCh37	16	56548459	56548459	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	99	236	0	ENST00000245157.5:c.251A>T	p.Asn84Ile	p.N84I	ENST00000245157	NM_031885.3	84	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS32451.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTTCAAT	NONE	.	.	Superfamily_domains:SSF50978,PIRSF_domain:PIRSF013684,Pfam_domain:PF14781,hmmpanther:PTHR32465,hmmpanther:PTHR32465:SF0	.	.	ENSP00000245157	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000245157	Transcript	.	.	ENSG00000125124	967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.17)	.	BBS2_HUMAN	BBS2	HGNC	Q8ND60_HUMAN,J3QLW0_HUMAN	.	UPI0000167B72	SNV	BBS2,missense_variant,p.Asn84Ile,ENST00000568104,;BBS2,missense_variant,p.Asn84Ile,ENST00000245157,;BBS2,5_prime_UTR_variant,,ENST00000569941,;BBS2,non_coding_transcript_exon_variant,,ENST00000566689,;BBS2,non_coding_transcript_exon_variant,,ENST00000565378,;BBS2,upstream_gene_variant,,ENST00000561951,;BBS2,non_coding_transcript_exon_variant,,ENST00000569342,;BBS2,non_coding_transcript_exon_variant,,ENST00000565781,;BBS2,upstream_gene_variant,,ENST00000562012,;BBS2,upstream_gene_variant,,ENST00000565859,;	672	236	128	SUCCESS
MYH8	4626	.	GRCh37	17	10315757	10315757	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	174	358	2	ENST00000403437.2:c.1346A>T	p.Gln449Leu	p.Q449L	ENST00000403437	NM_002472.2	449	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11153.1	1346	RADIA|SOMATICSNIPER|VARSCANS	.	CCAGCTGCTGG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000384330	.	14/40	.	.	.	.	.	.	.	.	.	14/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.082)	.	tolerated(0.06)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Gln449Leu,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1441	360	413	SUCCESS
ABR	29	.	GRCh37	17	909373	909374	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs750897785	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	93	0	ENST00000302538.5:c.2526dup	p.Ile843HisfsTer46	p.I843Hfs*46	ENST00000302538	NM_021962.3	842	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS10999.1	2526-2527	INDELOCATOR|VARSCANI	.	GGAAATGGGGG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182	.	.	ENSP00000303909	.	23/23	.	.	.	.	.	.	.	.	rs750897785,COSM112051	23/23	PASS	ENST00000302538	Transcript	.	.	ENSG00000159842	81	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	ABR_HUMAN	ABR	HGNC	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN	.	UPI00001AED3D	insertion	ABR,frameshift_variant,p.Ile173HisfsTer?,ENST00000573559,;ABR,frameshift_variant,p.Ile806HisfsTer46,ENST00000291107,;ABR,frameshift_variant,p.Ile797HisfsTer46,ENST00000574437,;ABR,frameshift_variant,p.Ile294HisfsTer?,ENST00000543210,;ABR,frameshift_variant,p.Ile797HisfsTer46,ENST00000544583,;ABR,frameshift_variant,p.Ile625HisfsTer?,ENST00000536794,;ABR,frameshift_variant,p.Ile843HisfsTer46,ENST00000302538,;ABR,intron_variant,,ENST00000571797,;ABR,intron_variant,,ENST00000572441,;TIMM22,downstream_gene_variant,,ENST00000327158,;ABR,downstream_gene_variant,,ENST00000571383,;ABR,downstream_gene_variant,,ENST00000571120,;ABR,downstream_gene_variant,,ENST00000571022,;ABR,non_coding_transcript_exon_variant,,ENST00000572585,;ABR,downstream_gene_variant,,ENST00000570688,;ABR,downstream_gene_variant,,ENST00000572650,;ABR,downstream_gene_variant,,ENST00000572152,;	2673-2674	93	123	SUCCESS
FHOD3	80206	.	GRCh37	18	34340646	34340647	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GT	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	114	72	69	0	ENST00000359247.4:c.3925_3926insGT	p.Glu1309GlyfsTer6	p.E1309Gfs*6	ENST00000359247	NM_001281739.1	1309	gag/gGTag	0	.	.	.	.	.	GT	E/GX	protein_coding	YES	CCDS32816.1	3976-3977	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCTGAGCAC	NONE	.	.	hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,SMART_domains:SM00498	.	.	ENSP00000257209	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	insertion	FHOD3,frameshift_variant,p.Glu1288GlyfsTer6,ENST00000445677,;FHOD3,frameshift_variant,p.Glu1087GlyfsTer6,ENST00000592930,;FHOD3,frameshift_variant,p.Glu1326GlyfsTer6,ENST00000257209,;FHOD3,frameshift_variant,p.Glu1509GlyfsTer6,ENST00000590592,;FHOD3,frameshift_variant,p.Glu522GlyfsTer6,ENST00000591635,;FHOD3,frameshift_variant,p.Glu305GlyfsTer6,ENST00000592128,;FHOD3,frameshift_variant,p.Glu1309GlyfsTer6,ENST00000359247,;FHOD3,intron_variant,,ENST00000585579,;	4098-4099	69	186	SUCCESS
STARD6	147323	.	GRCh37	18	51863589	51863589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	70	0	ENST00000307844.3:c.173C>A	p.Pro58Gln	p.P58Q	ENST00000307844	NM_139171.1	58	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS11955.1	173	RADIA|MUSE	.	TAGCTGGTGAT	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000462349	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000581310	Transcript	.	.	ENSG00000174448	18066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.46)	.	deleterious(0.01)	.	STAR6_HUMAN	STARD6	HGNC	.	.	UPI0000136137	SNV	STARD6,missense_variant,p.Pro58Gln,ENST00000307844,;STARD6,missense_variant,p.Pro58Gln,ENST00000581310,;STARD6,5_prime_UTR_variant,,ENST00000580990,;	547	70	41	SUCCESS
CDH19	28513	.	GRCh37	18	64239420	64239420	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs368840152	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	70	92	0	ENST00000262150.2:c.22C>G	p.Arg8Gly	p.R8G	ENST00000262150	NM_021153.3	8	Cgt/Ggt	0	A:0.0002	.	.	.	.	C	R/G	protein_coding	YES	CCDS11994.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACGCAGCA	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027	.	A:0	ENSP00000262150	.	2/12	.	.	.	.	.	.	.	.	rs368840152	2/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.33)	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,missense_variant,p.Arg8Gly,ENST00000540086,;CDH19,missense_variant,p.Arg8Gly,ENST00000262150,;CDH19,missense_variant,p.Arg8Gly,ENST00000580157,;CDH19,upstream_gene_variant,,ENST00000454642,;CDH19,missense_variant,p.Arg8Gly,ENST00000579658,;	315	92	132	SUCCESS
CCDC151	0	.	GRCh37	19	11534579	11534580	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	27	0	ENST00000356392.4:c.1082dup	p.Val362GlyfsTer8	p.V362Gfs*8	ENST00000356392	NM_145045.4	361	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS42501.1	1082-1083	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGACCTTGCC	NONE	.	.	hmmpanther:PTHR21694:SF1,hmmpanther:PTHR21694	.	.	ENSP00000348757	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000356392	Transcript	1	.	ENSG00000198003	28303	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC151_HUMAN	CCDC151	HGNC	K7EPK8_HUMAN,B7ZMB9_HUMAN	.	UPI000040CC83	insertion	CCDC151,frameshift_variant,p.Val302GlyfsTer8,ENST00000591179,;CCDC151,frameshift_variant,p.Val362GlyfsTer8,ENST00000356392,;CCDC151,frameshift_variant,p.Val171GlyfsTer8,ENST00000586836,;CCDC151,frameshift_variant,p.Val308GlyfsTer8,ENST00000545100,;RGL3,upstream_gene_variant,,ENST00000380456,;RGL3,upstream_gene_variant,,ENST00000567080,;RGL3,upstream_gene_variant,,ENST00000393423,;RGL3,upstream_gene_variant,,ENST00000561570,;CCDC151,3_prime_UTR_variant,,ENST00000591345,;RGL3,upstream_gene_variant,,ENST00000453604,;RGL3,upstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000563726,;RGL3,upstream_gene_variant,,ENST00000568420,;RGL3,upstream_gene_variant,,ENST00000562663,;	1170-1171	27	54	SUCCESS
ZNF443	10224	.	GRCh37	19	12542333	12542333	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143162114	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	18	189	0	ENST00000301547.5:c.653C>T	p.Thr218Met	p.T218M	ENST00000301547	NM_005815.4	218	aCg/aTg	0	A:0.0002	A:0.0015	.	A:0	.	A	T/M	protein_coding	YES	CCDS32918.1	653	MUTECT|MUSE	.	TGTGCGTTCTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF16,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0	A:0.001	ENSP00000301547	A:0	4/4	.	.	.	.	.	.	.	.	rs143162114,COSM3692371	4/4	common_in_exac	ENST00000301547	Transcript	.	A:0.0004	ENSG00000180855	20878	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.23)	A:0	tolerated(0.08)	0,1	ZN443_HUMAN	ZNF443	HGNC	F8WDY2_HUMAN	.	UPI000020344A	SNV	ZNF443,missense_variant,p.Thr218Met,ENST00000301547,;CTD-3105H18.16,intron_variant,,ENST00000595562,;ZNF443,downstream_gene_variant,,ENST00000436821,;CTD-3105H18.18,downstream_gene_variant,,ENST00000598753,;	851	189	272	SUCCESS
APC2	10297	.	GRCh37	19	1456316	1456316	+	synonymous_variant	Silent	SNP	G	G	A	rs138830892	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	62	144	0	ENST00000233607.2:c.729G>A	p.Ala243=	p.A243=	ENST00000233607	NM_005883.2	243	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12068.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGTGAA	NONE	.	.	Gene3D:1.10.287.450,hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607	.	.	ENSP00000442954	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	SNV	APC2,synonymous_variant,p.%3D,ENST00000233607,;APC2,synonymous_variant,p.%3D,ENST00000590469,;APC2,synonymous_variant,p.%3D,ENST00000535453,;APC2,intron_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000587149,;C19orf25,downstream_gene_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000587869,;APC2,downstream_gene_variant,,ENST00000590877,;CTB-25B13.12,downstream_gene_variant,,ENST00000588225,;APC2,non_coding_transcript_exon_variant,,ENST00000593146,;CTB-25B13.12,downstream_gene_variant,,ENST00000591252,;	2442	144	186	SUCCESS
BRD4	23476	.	GRCh37	19	15349580	15349580	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	61	58	0	ENST00000263377.2:c.3994G>T	p.Glu1332Ter	p.E1332*	ENST00000263377	NM_058243.2	1332	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12328.1	3994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCCGCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000263377	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,stop_gained,p.Glu1332Ter,ENST00000263377,;AC004257.3,upstream_gene_variant,,ENST00000602793,;	4216	58	123	SUCCESS
CHERP	10523	.	GRCh37	19	16636060	16636060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	59	89	0	ENST00000546361.2:c.1734C>G	p.Phe578Leu	p.F578L	ENST00000546361	NM_006387.5	578	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS42518.1	1734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGAAGTC	NONE	.	.	hmmpanther:PTHR12323	.	.	ENSP00000439856	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000546361	Transcript	.	.	ENSG00000085872	16930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	tolerated_low_confidence(0.14)	.	CHERP_HUMAN	CHERP	HGNC	.	.	UPI00001AE5BE	SNV	CHERP,missense_variant,p.Phe578Leu,ENST00000546361,;CHERP,missense_variant,p.Phe589Leu,ENST00000198939,;C19orf44,downstream_gene_variant,,ENST00000221671,;CHERP,non_coding_transcript_exon_variant,,ENST00000544299,;CTD-3222D19.2,intron_variant,,ENST00000409035,;CHERP,upstream_gene_variant,,ENST00000600432,;C19orf44,downstream_gene_variant,,ENST00000593380,;C19orf44,downstream_gene_variant,,ENST00000601109,;	1886	89	168	SUCCESS
GTPBP3	84705	.	GRCh37	19	17448375	17448376	+	5_prime_UTR_variant	5'UTR	INS	-	-	AGCC	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	150	45	108	0	ENST00000324894.8:c.-44_-41dup		p.*15*	ENST00000324894	NM_133644.3			0	.	.	.	.	.	AGCC	.	protein_coding	YES	CCDS32950.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTGAAGCCA	NONE	.	.	.	.	.	ENSP00000351644	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000358792	Transcript	1	.	ENSG00000130299	14880	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GTPB3_HUMAN	GTPBP3	HGNC	.	.	UPI000059D6A7	insertion	GTPBP3,5_prime_UTR_variant,,ENST00000324894,;GTPBP3,5_prime_UTR_variant,,ENST00000358792,;GTPBP3,5_prime_UTR_variant,,ENST00000600625,;GTPBP3,intron_variant,,ENST00000361619,;ANO8,upstream_gene_variant,,ENST00000159087,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000598038,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000593297,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000596166,;GTPBP3,intron_variant,,ENST00000596218,;GTPBP3,intron_variant,,ENST00000595951,;GTPBP3,intron_variant,,ENST00000600995,;GTPBP3,intron_variant,,ENST00000596941,;GTPBP3,intron_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,5_prime_UTR_variant,,ENST00000598493,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000601261,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000599429,;GTPBP3,intron_variant,,ENST00000601213,;GTPBP3,upstream_gene_variant,,ENST00000602165,;GTPBP3,upstream_gene_variant,,ENST00000600610,;GTPBP3,upstream_gene_variant,,ENST00000594703,;GTPBP3,upstream_gene_variant,,ENST00000601983,;GTPBP3,upstream_gene_variant,,ENST00000599329,;GTPBP3,upstream_gene_variant,,ENST00000596001,;ANO8,upstream_gene_variant,,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000595194,;GTPBP3,upstream_gene_variant,,ENST00000596125,;ANO8,upstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000602056,;GTPBP3,upstream_gene_variant,,ENST00000594018,;	12-13	108	195	SUCCESS
ZNF431	170959	.	GRCh37	19	21366647	21366647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	34	0	ENST00000311048.7:c.1541G>A	p.Cys514Tyr	p.C514Y	ENST00000311048	NM_133473.2	514	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS32979.1	1541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGTGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF118,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000308578	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311048	Transcript	.	.	ENSG00000196705	20809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.02)	.	ZN431_HUMAN	ZNF431	HGNC	.	.	UPI0000191EAC	SNV	ZNF431,missense_variant,p.Cys514Tyr,ENST00000311048,;ZNF431,3_prime_UTR_variant,,ENST00000600692,;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000594821,;ZNF431,upstream_gene_variant,,ENST00000593426,;VN1R82P,upstream_gene_variant,,ENST00000601481,;	1685	34	69	SUCCESS
ZNF461	92283	.	GRCh37	19	37130125	37130125	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	76	0	ENST00000588268.1:c.1122A>T	p.Ile374=	p.I374=	ENST00000588268	NM_153257.2	374	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54257.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTATAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF277,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000467931	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588268	Transcript	.	.	ENSG00000197808	21629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN461_HUMAN	ZNF461	HGNC	K7EJM1_HUMAN,K7EIW1_HUMAN	.	UPI00002021CA	SNV	ZNF461,synonymous_variant,p.%3D,ENST00000360357,;ZNF461,synonymous_variant,p.%3D,ENST00000588268,;ZNF461,downstream_gene_variant,,ENST00000591370,;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000590361,;ZNF461,downstream_gene_variant,,ENST00000588844,;	1350	76	87	SUCCESS
ZNF585A	199704	.	GRCh37	19	37642633	37642633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	120	203	0	ENST00000292841.5:c.2003G>T	p.Cys668Phe	p.C668F	ENST00000292841	NM_152655.2	668	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS12499.1	2003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACACTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000292841	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292841	Transcript	.	.	ENSG00000196967	26305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	Z585A_HUMAN	ZNF585A	HGNC	.	.	UPI000007213F	SNV	ZNF585A,missense_variant,p.Cys668Phe,ENST00000292841,;ZNF585A,missense_variant,p.Cys360Phe,ENST00000355533,;ZNF585A,missense_variant,p.Cys668Phe,ENST00000392157,;ZNF585A,missense_variant,p.Cys723Phe,ENST00000356958,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	2501	203	311	SUCCESS
TSEN34	79042	.	GRCh37	19	54696036	54696036	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755901797	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	115	190	1	ENST00000302937.4:c.557A>G	p.Gln186Arg	p.Q186R	ENST00000302937	NM_024075.3	186	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS42609.1	557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAGCTGG	NONE	byFrequency	.	PIRSF_domain:PIRSF017250,hmmpanther:PTHR13070	.	.	ENSP00000379667	.	4/5	.	.	.	.	.	.	.	.	rs755901797	4/5	PASS	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,missense_variant,p.Gln186Arg,ENST00000396383,;TSEN34,missense_variant,p.Gln186Arg,ENST00000455798,;TSEN34,missense_variant,p.Gln189Arg,ENST00000456872,;TSEN34,missense_variant,p.Gln186Arg,ENST00000396388,;TSEN34,missense_variant,p.Gln186Arg,ENST00000429671,;TSEN34,missense_variant,p.Gln186Arg,ENST00000302937,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;	868	191	236	SUCCESS
SEMA6C	10500	.	GRCh37	1	151110260	151110260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	469	27	175	0	ENST00000341697.3:c.683A>G	p.Gln228Arg	p.Q228R	ENST00000341697		228	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS53364.1	683	MUTECT|MUSE	.	AGGCCTGGACA	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,PROSITE_profiles:PS51004	.	.	ENSP00000357909	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious(0)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Gln228Arg,ENST00000368914,;SEMA6C,missense_variant,p.Gln228Arg,ENST00000368913,;SEMA6C,missense_variant,p.Gln228Arg,ENST00000341697,;SEMA6C,missense_variant,p.Gln188Arg,ENST00000368912,;SEMA6C,non_coding_transcript_exon_variant,,ENST00000485745,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000479820,;	812	175	496	SUCCESS
PGLYRP3	114771	.	GRCh37	1	153277442	153277442	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	446	102	183	0	ENST00000290722.1:c.357C>A	p.Ala119=	p.A119=	ENST00000290722	NM_052891.1	119	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1035.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGGCGAT	BUFFER|p.A119T|c.355G>A|3	.	.	hmmpanther:PTHR11022:SF28,hmmpanther:PTHR11022,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000290722	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000290722	Transcript	.	.	ENSG00000159527	30014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGRP3_HUMAN	PGLYRP3	HGNC	.	.	UPI000006F12B	SNV	PGLYRP3,synonymous_variant,p.%3D,ENST00000290722,;	410	183	548	SUCCESS
INSRR	3645	.	GRCh37	1	156828374	156828381	+	frameshift_variant	Frame_Shift_Del	DEL	GCAGGCAT	GCAGGCAT	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	GCAGGCAT	GCAGGCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	281	28	127	0	ENST00000368195.3:c.33_40del	p.Leu13AspfsTer104	p.L13Dfs*104	ENST00000368195	NM_014215.2	11	gcATGCCTGCct/gcct	0	.	.	.	.	.	-	ACLP/AX	protein_coding	YES	CCDS1160.1	33-40	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACAGGCAGGCATGCTCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF000620	.	.	ENSP00000357178	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	deletion	INSRR,frameshift_variant,p.Leu13AspfsTer104,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,upstream_gene_variant,,ENST00000524377,;NTRK1,upstream_gene_variant,,ENST00000358660,;NTRK1,upstream_gene_variant,,ENST00000368196,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,upstream_gene_variant,,ENST00000533630,;	430-437	127	309	SUCCESS
SPTA1	6708	.	GRCh37	1	158622406	158622406	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372281474	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	101	114	0	ENST00000368147.4:c.3226C>T	p.Arg1076Cys	p.R1076C	ENST00000368147	NM_003126.2	1076	Cgt/Tgt	0	T:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS41423.1	3226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACGTCTGC	BUFFER|p.R1074H|c.3221G>A|4	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	T:0.0001	ENSP00000357129	.	23/52	.	.	.	.	.	.	.	.	rs372281474	23/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.06)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Arg1076Cys,ENST00000368147,;	3407	114	280	SUCCESS
SPTA1	6708	.	GRCh37	1	158624516	158624516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	31	74	0	ENST00000368147.4:c.2921A>G	p.Glu974Gly	p.E974G	ENST00000368147	NM_003126.2	974	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41423.1	2921	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTCCACT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150	.	.	ENSP00000357129	.	21/52	.	.	.	.	.	.	.	.	.	21/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.35)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu974Gly,ENST00000368147,;	3102	74	208	SUCCESS
PVRL4	0	.	GRCh37	1	161044015	161044015	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	471	116	188	0	ENST00000368012.3:c.1149C>T	p.Thr383=	p.T383=	ENST00000368012	NM_030916.2	383	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1216.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGTCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277	.	.	ENSP00000356991	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000368012	Transcript	.	.	ENSG00000143217	19688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRL4_HUMAN	PVRL4	HGNC	K4PZ75_HUMAN	.	UPI000006F072	SNV	PVRL4,synonymous_variant,p.%3D,ENST00000368012,;PVRL4,synonymous_variant,p.%3D,ENST00000453926,;ARHGAP30,upstream_gene_variant,,ENST00000368013,;ARHGAP30,upstream_gene_variant,,ENST00000368016,;ARHGAP30,upstream_gene_variant,,ENST00000368015,;PVRL4,non_coding_transcript_exon_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;	1452	188	587	SUCCESS
GPR52	9293	.	GRCh37	1	174417683	174417683	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	147	124	0	ENST00000367685.2:c.434A>T	p.Lys145Met	p.K145M	ENST00000367685	NM_005684.4	145	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS30941.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAAGCCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000356658	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367685	Transcript	.	.	ENSG00000203737	4508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GPR52_HUMAN	GPR52	HGNC	F2YGU0_HUMAN	.	UPI0000153A3C	SNV	GPR52,missense_variant,p.Lys145Met,ENST00000367685,;RABGAP1L,intron_variant,,ENST00000357444,;RABGAP1L,intron_variant,,ENST00000367689,;RABGAP1L,intron_variant,,ENST00000251507,;RABGAP1L,intron_variant,,ENST00000526253,;RABGAP1L,intron_variant,,ENST00000367690,;	472	124	375	SUCCESS
CACNA1E	777	.	GRCh37	1	181479711	181479711	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369308237	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	318	62	149	0	ENST00000367573.2:c.365G>A	p.Arg122Gln	p.R122Q	ENST00000367573	NM_001205293.1	122	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS55664.1	365	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGAAGAC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	A:0.0001	ENSP00000356545	.	2/48	.	.	.	.	.	.	.	.	rs369308237,COSM677758,COSM1146072	2/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.238)	.	tolerated(0.1)	0,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Arg122Gln,ENST00000360108,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000524607,;CACNA1E,missense_variant,p.Arg73Gln,ENST00000358338,;CACNA1E,missense_variant,p.Arg73Gln,ENST00000357570,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000526775,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000367570,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	365	149	380	SUCCESS
HMCN1	83872	.	GRCh37	1	186086707	186086707	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771776707	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	89	96	0	ENST00000271588.4:c.11800G>A	p.Gly3934Ser	p.G3934S	ENST00000271588	NM_031935.2	3934	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS30956.1	11800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGGTATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	77/107	.	.	.	.	.	.	.	.	rs771776707,COSM3480230	77/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	.	0,1	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Gly3934Ser,ENST00000367492,;HMCN1,missense_variant,p.Gly3934Ser,ENST00000271588,;	12029	96	275	SUCCESS
TP53BP2	7159	.	GRCh37	1	223968572	223968572	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	53	0	ENST00000343537.7:c.3388C>G	p.Gln1130Glu	p.Q1130E	ENST00000343537	NM_001031685.2	1130	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS44319.1	3388	MUTECT|MUSE	.	CCTTTGTCTTG	NONE	.	.	hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131	.	.	ENSP00000341957	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,missense_variant,p.Gln1001Glu,ENST00000391878,;TP53BP2,missense_variant,p.Gln363Glu,ENST00000391879,;TP53BP2,missense_variant,p.Gln1130Glu,ENST00000343537,;CAPN2,downstream_gene_variant,,ENST00000433674,;CAPN2,downstream_gene_variant,,ENST00000295006,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;CAPN2,downstream_gene_variant,,ENST00000487223,;CAPN2,downstream_gene_variant,,ENST00000463997,;CAPN2,downstream_gene_variant,,ENST00000474026,;TP53BP2,3_prime_UTR_variant,,ENST00000483398,;	3680	53	76	SUCCESS
BCL2L1	598	.	GRCh37	20	30309743	30309743	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	77	132	0	ENST00000307677.4:c.279A>T	p.Ala93=	p.A93=	ENST00000307677	NM_138578.1	93	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13189.1	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTGCCTC	NONE	.	.	PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF12,hmmpanther:PTHR11256,PROSITE_patterns:PS01259,Gene3D:1.10.437.10,Pfam_domain:PF00452,TIGRFAM_domain:TIGR00865,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01864	.	.	ENSP00000302564	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000307677	Transcript	.	.	ENSG00000171552	992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B2CL1_HUMAN	BCL2L1	HGNC	Q9H1R6_HUMAN,Q5TE64_HUMAN,Q5QP59_HUMAN,Q5QP56_HUMAN	.	UPI0000000CEC	SNV	BCL2L1,synonymous_variant,p.%3D,ENST00000420488,;BCL2L1,synonymous_variant,p.%3D,ENST00000439267,;BCL2L1,synonymous_variant,p.%3D,ENST00000420653,;BCL2L1,synonymous_variant,p.%3D,ENST00000376062,;BCL2L1,synonymous_variant,p.%3D,ENST00000376055,;BCL2L1,synonymous_variant,p.%3D,ENST00000456404,;BCL2L1,synonymous_variant,p.%3D,ENST00000422920,;BCL2L1,synonymous_variant,p.%3D,ENST00000450273,;BCL2L1,synonymous_variant,p.%3D,ENST00000307677,;BCL2L1,downstream_gene_variant,,ENST00000434194,;AL160175.1,downstream_gene_variant,,ENST00000597287,;	690	132	260	SUCCESS
ADNP	23394	.	GRCh37	20	49508566	49508566	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	80	104	0	ENST00000349014.3:c.2685T>G	p.Pro895=	p.P895=	ENST00000349014	NM_001282532.1	895	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13433.1	2685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAGGGTC	NONE	.	.	hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740	.	.	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	SNV	ADNP,synonymous_variant,p.%3D,ENST00000396032,;ADNP,synonymous_variant,p.%3D,ENST00000396029,;ADNP,synonymous_variant,p.%3D,ENST00000349014,;ADNP,synonymous_variant,p.%3D,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	3253	104	151	SUCCESS
ADAMTS1	9510	.	GRCh37	21	28210546	28210546	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	63	0	ENST00000284984.3:c.2256A>G	p.Glu752=	p.E752=	ENST00000284984	NM_006988.3	752	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS33524.1	2256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTTCGAT	NONE	.	.	hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986	.	.	ENSP00000284984	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000284984	Transcript	.	.	ENSG00000154734	217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS1_HUMAN	ADAMTS1	HGNC	E5RI60_HUMAN	.	UPI000013DDC6	SNV	ADAMTS1,synonymous_variant,p.%3D,ENST00000284984,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000492656,;	2711	63	76	SUCCESS
IFNAR1	3454	.	GRCh37	21	34721747	34721747	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	95	0	ENST00000270139.3:c.1041T>C	p.His347=	p.H347=	ENST00000270139	NM_000629.2	347	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS13624.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATATCTA	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF016567,Pfam_domain:PF09294,Gene3D:2.60.40.10,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF45,PROSITE_profiles:PS50853	.	.	ENSP00000270139	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000270139	Transcript	.	.	ENSG00000142166	5432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INAR1_HUMAN	IFNAR1	HGNC	B4DNT3_HUMAN	.	UPI000006FE3C	SNV	IFNAR1,synonymous_variant,p.%3D,ENST00000442357,;IFNAR1,synonymous_variant,p.%3D,ENST00000270139,;IFNAR1,synonymous_variant,p.%3D,ENST00000416947,;IFNAR1,downstream_gene_variant,,ENST00000442071,;	1193	95	89	SUCCESS
APOL3	80833	.	GRCh37	22	36545151	36545151	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	87	0	ENST00000349314.2:c.224-3504A>G		p.*75*	ENST00000349314	NM_145640.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13922.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTCACTG	NONE	.	.	.	.	.	ENSP00000344577	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000349314	Transcript	.	.	ENSG00000128284	14868	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOL3_HUMAN	APOL3	HGNC	.	.	UPI0000141763	SNV	APOL3,5_prime_UTR_variant,,ENST00000397293,;APOL3,intron_variant,,ENST00000397287,;APOL3,intron_variant,,ENST00000349314,;APOL3,intron_variant,,ENST00000424878,;APOL3,intron_variant,,ENST00000361710,;APOL3,non_coding_transcript_exon_variant,,ENST00000534251,;APOL3,non_coding_transcript_exon_variant,,ENST00000525184,;APOL3,non_coding_transcript_exon_variant,,ENST00000485453,;APOL3,intron_variant,,ENST00000487423,;APOL3,missense_variant,p.Asp43Gly,ENST00000426939,;APOL3,missense_variant,p.Asp43Gly,ENST00000531195,;APOL3,missense_variant,p.Asp88Gly,ENST00000397289,;APOL3,3_prime_UTR_variant,,ENST00000472303,;APOL3,3_prime_UTR_variant,,ENST00000432700,;APOL3,3_prime_UTR_variant,,ENST00000422426,;APOL3,3_prime_UTR_variant,,ENST00000530895,;APOL3,3_prime_UTR_variant,,ENST00000487783,;APOL3,3_prime_UTR_variant,,ENST00000487355,;	.	87	136	SUCCESS
NPAS2	4862	.	GRCh37	2	101580582	101580590	+	inframe_deletion	In_Frame_Del	DEL	GGAAAGGAG	GGAAAGGAG	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	GGAAAGGAG	GGAAAGGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	83	0	ENST00000335681.5:c.662_670del	p.Gly221_Glu223del	p.G221_E223del	ENST00000335681	NM_002518.3	221	GGAAAGGAG/-	0	.	.	.	.	.	-	GKE/-	protein_coding	YES	CCDS2048.1	661-669	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACTAGGAAAGGAGGTTTG	NONE	.	.	hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042	.	.	ENSP00000338283	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	deletion	NPAS2,inframe_deletion,p.Gly221_Glu223del,ENST00000335681,;NPAS2,inframe_deletion,p.Gly286_Glu288del,ENST00000542504,;NPAS2,intron_variant,,ENST00000448812,;NPAS2,non_coding_transcript_exon_variant,,ENST00000486017,;NPAS2,non_coding_transcript_exon_variant,,ENST00000492373,;	946-954	83	82	SUCCESS
DNAH7	56171	.	GRCh37	2	196891544	196891544	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	97	0	ENST00000312428.6:c.607A>G	p.Ile203Val	p.I203V	ENST00000312428	NM_018897.2	203	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42794.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTATGCTGT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	7/65	.	.	.	.	.	.	.	.	.	7/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.2)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Ile203Val,ENST00000410072,;DNAH7,missense_variant,p.Ile203Val,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000427816,;	708	97	115	SUCCESS
AGAP1	116987	.	GRCh37	2	237032725	237032725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	158	261	0	ENST00000304032.8:c.2533A>G	p.Asn845Asp	p.N845D	ENST00000304032	NM_001037131.2	845	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS33408.1	2533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATAACCGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000307634	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000304032	Transcript	.	.	ENSG00000157985	16922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.14)	.	AGAP1_HUMAN	AGAP1	HGNC	Q53S93_HUMAN,Q4ZG54_HUMAN,Q4ZG22_HUMAN,F5GXM9_HUMAN	.	UPI00005E1AE1	SNV	AGAP1,missense_variant,p.Asn845Asp,ENST00000304032,;AGAP1,missense_variant,p.Asn247Asp,ENST00000453371,;AGAP1,missense_variant,p.Asn792Asp,ENST00000336665,;AGAP1,missense_variant,p.Asn684Asp,ENST00000428334,;AGAP1,missense_variant,p.Asn1057Asp,ENST00000409538,;AGAP1,downstream_gene_variant,,ENST00000418654,;AGAP1,downstream_gene_variant,,ENST00000466575,;	3113	261	343	SUCCESS
MFI2-AS1	0	.	GRCh37	3	196731069	196731069	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	28	0	ENST00000415244.1:n.539C>G		p.*180*	ENST00000415244				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3325.1	.	MUTECT|MUSE	.	TGACCCAAAGA	NONE	.	.	.	.	.	ENSP00000296350	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296350	Transcript	.	.	ENSG00000163975	7037	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRFM_HUMAN	MFI2	HGNC	.	.	UPI000013E329	SNV	MFI2,intron_variant,,ENST00000296350,;MFI2-AS1,non_coding_transcript_exon_variant,,ENST00000415244,;MFI2-AS1,intron_variant,,ENST00000424769,;MFI2-AS1,intron_variant,,ENST00000437064,;MFI2-AS1,intron_variant,,ENST00000414354,;MFI2-AS1,downstream_gene_variant,,ENST00000446695,;MFI2,upstream_gene_variant,,ENST00000469783,;	.	28	47	SUCCESS
ROBO1	6091	.	GRCh37	3	79174651	79174651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	135	244	0	ENST00000464233.1:c.127C>T	p.Pro43Ser	p.P43S	ENST00000464233	NM_002941.3	43	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS54611.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGGCGTCC	NONE	.	.	.	.	.	ENSP00000420321	.	3/31	.	.	.	.	.	.	.	.	.	3/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated_low_confidence(0.65)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Pro43Ser,ENST00000464233,;	241	244	306	SUCCESS
WDR17	116966	.	GRCh37	4	177058704	177058704	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200199041	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	23	54	0	ENST00000280190.4:c.1373G>A	p.Arg458Gln	p.R458Q	ENST00000280190		458	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3825.1	1373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGAAATG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	A:0.0001	ENSP00000280190	.	10/31	.	.	.	.	.	.	.	.	rs200199041,COSM3428351	10/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.12)	0,1	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Arg441Gln,ENST00000507824,;WDR17,missense_variant,p.Arg207Gln,ENST00000505894,;WDR17,missense_variant,p.Arg458Gln,ENST00000280190,;WDR17,missense_variant,p.Arg434Gln,ENST00000508596,;WDR17,missense_variant,p.Arg434Gln,ENST00000393643,;	1529	54	29	SUCCESS
AGPAT9	0	.	GRCh37	4	84457903	84457903	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs150911365	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	26	44	0	ENST00000264409.4:c.128T>A	p.Val43Glu	p.V43E	ENST00000264409	NM_032717.4	43	gTg/gAg	0	C:0	.	.	.	.	A	V/E	protein_coding	YES	CCDS3606.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGTGAAAA	NONE	byCluster	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF10	.	C:0.0001	ENSP00000378651	.	2/13	.	.	.	.	.	.	.	.	rs150911365	2/13	PASS	ENST00000395226	Transcript	.	.	ENSG00000138678	28157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.534)	.	deleterious(0.01)	.	GPAT3_HUMAN	AGPAT9	HGNC	.	.	UPI000004B62F	SNV	AGPAT9,missense_variant,p.Val43Glu,ENST00000395226,;AGPAT9,missense_variant,p.Val43Glu,ENST00000264409,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000506766,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000509412,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000514309,;	346	44	33	SUCCESS
WDFY3	23001	.	GRCh37	4	85724505	85724505	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	154	316	0	ENST00000295888.4:c.2545C>T	p.Pro849Ser	p.P849S	ENST00000295888	NM_014991.4	849	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS3609.1	2545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGATGAA	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	16/68	.	.	.	.	.	.	.	.	.	16/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	tolerated(0.32)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Pro849Ser,ENST00000295888,;WDFY3,missense_variant,p.Pro849Ser,ENST00000322366,;WDFY3-AS1,non_coding_transcript_exon_variant,,ENST00000510449,;WDFY3,non_coding_transcript_exon_variant,,ENST00000512267,;WDFY3,non_coding_transcript_exon_variant,,ENST00000505923,;	2953	316	210	SUCCESS
MARCH6	0	.	GRCh37	5	10391780	10391780	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	52	158	0	ENST00000274140.5:c.703G>C	p.Asp235His	p.D235H	ENST00000274140	NM_005885.3	235	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS34135.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGACAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.13)	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,missense_variant,p.Asp187His,ENST00000449913,;MARCH6,missense_variant,p.Asp235His,ENST00000274140,;MARCH6,missense_variant,p.Asp130His,ENST00000503788,;MARCH6,downstream_gene_variant,,ENST00000507863,;MARCH6,downstream_gene_variant,,ENST00000510872,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,downstream_gene_variant,,ENST00000506131,;MARCH6,downstream_gene_variant,,ENST00000502795,;	835	158	229	SUCCESS
CXXC5	51523	.	GRCh37	5	139060853	139060853	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	96	0	ENST00000302517.3:c.745C>G	p.Leu249Val	p.L249V	ENST00000302517	NM_016463.7	249	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43370.1	745	MUTECT|MUSE	.	GAGAGCTGGCC	NONE	.	.	hmmpanther:PTHR13419:SF2,hmmpanther:PTHR13419	.	.	ENSP00000302543	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000302517	Transcript	.	.	ENSG00000171604	26943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	tolerated(0.07)	.	CXXC5_HUMAN	CXXC5	HGNC	E7EVI8_HUMAN,E7EV55_HUMAN,D6RIR8_HUMAN,D6RHG9_HUMAN,D6RHC6_HUMAN,D6RDY2_HUMAN,D6RCN9_HUMAN,D6RBE0_HUMAN,D6R9V1_HUMAN,D6R966_HUMAN	.	UPI000003779E	SNV	CXXC5,missense_variant,p.Leu249Val,ENST00000302517,;CXXC5,missense_variant,p.Leu249Val,ENST00000511048,;CXXC5,downstream_gene_variant,,ENST00000511457,;CXXC5,downstream_gene_variant,,ENST00000512816,;CXXC5,downstream_gene_variant,,ENST00000509238,;CXXC5,downstream_gene_variant,,ENST00000503511,;CXXC5,downstream_gene_variant,,ENST00000504844,;CXXC5,downstream_gene_variant,,ENST00000504944,;CXXC5,downstream_gene_variant,,ENST00000507139,;CXXC5,downstream_gene_variant,,ENST00000511591,;CXXC5,downstream_gene_variant,,ENST00000502295,;CXXC5,downstream_gene_variant,,ENST00000502336,;CXXC5,downstream_gene_variant,,ENST00000520967,;CXXC5,downstream_gene_variant,,ENST00000502716,;CTB-35F21.1,upstream_gene_variant,,ENST00000515296,;CXXC5,non_coding_transcript_exon_variant,,ENST00000515038,;CXXC5,upstream_gene_variant,,ENST00000505812,;	1459	96	108	SUCCESS
DDX41	51428	.	GRCh37	5	176940709	176940709	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	92	166	0	ENST00000507955.1:c.1075C>A	p.Arg359Ser	p.R359S	ENST00000507955	NM_016222.2	359	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4427.1	1075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACGGATGT	NONE	.	.	Superfamily_domains:SSF52540,Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,PROSITE_profiles:PS51192	.	.	ENSP00000422753	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000507955	Transcript	.	.	ENSG00000183258	18674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.03)	.	DDX41_HUMAN	DDX41	HGNC	B3KRK2_HUMAN	.	UPI0000125164	SNV	DDX41,missense_variant,p.Arg377Ser,ENST00000330503,;DDX41,missense_variant,p.Arg359Ser,ENST00000507955,;DOK3,upstream_gene_variant,,ENST00000312943,;DOK3,upstream_gene_variant,,ENST00000502885,;DOK3,upstream_gene_variant,,ENST00000510898,;DOK3,upstream_gene_variant,,ENST00000510380,;DOK3,upstream_gene_variant,,ENST00000510389,;DOK3,upstream_gene_variant,,ENST00000377112,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000506493,;DOK3,upstream_gene_variant,,ENST00000501403,;DOK3,upstream_gene_variant,,ENST00000357198,;DDX41,downstream_gene_variant,,ENST00000506965,;DDX41,3_prime_UTR_variant,,ENST00000508279,;DDX41,non_coding_transcript_exon_variant,,ENST00000507900,;DDX41,non_coding_transcript_exon_variant,,ENST00000512027,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000511040,;DDX41,non_coding_transcript_exon_variant,,ENST00000504807,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000513562,;DOK3,upstream_gene_variant,,ENST00000500323,;DDX41,upstream_gene_variant,,ENST00000512334,;DDX41,downstream_gene_variant,,ENST00000509576,;DOK3,upstream_gene_variant,,ENST00000512660,;DDX41,downstream_gene_variant,,ENST00000512431,;DDX41,downstream_gene_variant,,ENST00000510171,;DOK3,upstream_gene_variant,,ENST00000502380,;DDX41,downstream_gene_variant,,ENST00000504781,;DDX41,downstream_gene_variant,,ENST00000515562,;	1599	166	193	SUCCESS
SV2C	22987	.	GRCh37	5	75427868	75427868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	77	145	0	ENST00000502798.2:c.293G>T	p.Ser98Ile	p.S98I	ENST00000502798	NM_014979.1	98	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43331.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGTATGA	NONE	.	.	hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF3,TIGRFAM_domain:TIGR01299	.	.	ENSP00000423541	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000502798	Transcript	.	.	ENSG00000122012	30670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.05)	.	SV2C_HUMAN	SV2C	HGNC	.	.	UPI000011DDBB	SNV	SV2C,missense_variant,p.Ser98Ile,ENST00000502798,;SV2C,missense_variant,p.Ser98Ile,ENST00000322285,;	735	145	182	SUCCESS
ADCY2	108	.	GRCh37	5	7706898	7706910	+	frameshift_variant	Frame_Shift_Del	DEL	TGGGCGTGCATTC	TGGGCGTGCATTC	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	TGGGCGTGCATTC	TGGGCGTGCATTC	.	.	.	.	.	.	.	.	.	.	.	.	.	162	92	220	0	ENST00000338316.4:c.1155_1167del	p.Val386MetfsTer6	p.V386Mfs*6	ENST00000338316	NM_020546.2	384	gTGGGCGTGCATTCt/gt	0	.	.	.	.	.	-	VGVHS/X	protein_coding	YES	CCDS3872.2	1151-1163	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCGCGTGGGCGTGCATTCTGGGA	CODON|p.G385D|c.1154G>A|3	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,PROSITE_profiles:PS50125	.	.	ENSP00000342952	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	deletion	ADCY2,frameshift_variant,p.Val386MetfsTer6,ENST00000338316,;ADCY2,frameshift_variant,p.Val206MetfsTer6,ENST00000537121,;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	1240-1252	220	254	SUCCESS
BCLAF1	9774	.	GRCh37	6	136589436	136589436	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	99	0	ENST00000531224.1:c.2261C>T	p.Ser754Phe	p.S754F	ENST00000531224	NM_001077441.1	754	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS5177.1	2261	RADIA|MUTECT|MUSE	.	CTGAAGAGGAT	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000435210	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.683)	.	deleterious(0.02)	.	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Ser754Phe,ENST00000527536,;BCLAF1,missense_variant,p.Ser752Phe,ENST00000392348,;BCLAF1,missense_variant,p.Ser752Phe,ENST00000353331,;BCLAF1,missense_variant,p.Ser581Phe,ENST00000530767,;BCLAF1,missense_variant,p.Ser754Phe,ENST00000531224,;BCLAF1,missense_variant,p.Ser752Phe,ENST00000527759,;BCLAF1,5_prime_UTR_variant,,ENST00000031135,;BCLAF1,intron_variant,,ENST00000534762,;BCLAF1,downstream_gene_variant,,ENST00000529826,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Ser9Phe,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;BCLAF1,downstream_gene_variant,,ENST00000534321,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000532076,;BCLAF1,downstream_gene_variant,,ENST00000534792,;	2514	99	91	SUCCESS
KIF25-AS1	100505879	.	GRCh37	6	168396642	168396642	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	22	23	0	ENST00000456585.1:n.1014C>A		p.*338*	ENST00000456585				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5305.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGGCGTCC	NONE	.	3130	.	.	.	ENSP00000388878	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,upstream_gene_variant,,ENST00000443060,;KIF25-AS1,non_coding_transcript_exon_variant,,ENST00000456585,;KIF25-AS1,non_coding_transcript_exon_variant,,ENST00000414364,;KIF25,upstream_gene_variant,,ENST00000515361,;	.	23	24	SUCCESS
OR10C1	442194	.	GRCh37	6	29408254	29408254	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	43	87	0	ENST00000444197.2:c.465del	p.Leu156TrpfsTer89	p.L156Wfs*89	ENST00000444197	NM_013941.3	154	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS34364.1	462	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGTGGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000419119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444197	Transcript	.	.	ENSG00000206474	8165	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O10C1_HUMAN	OR10C1	HGNC	.	.	UPI000014068E	deletion	OR10C1,frameshift_variant,p.Leu156TrpfsTer89,ENST00000444197,;OR11A1,intron_variant,,ENST00000377149,;	1172	87	186	SUCCESS
PGK2	5232	.	GRCh37	6	49755000	49755000	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	40	77	1	ENST00000304801.3:c.-100G>C		p.*34*	ENST00000304801	NM_138733.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4930.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCCCTTG	NONE	.	.	.	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,5_prime_UTR_variant,,ENST00000304801,;	54	78	151	SUCCESS
THSD7A	221981	.	GRCh37	7	11633070	11633070	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558393471	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	54	117	0	ENST00000423059.4:c.1082G>A	p.Cys361Tyr	p.C361Y	ENST00000423059	NM_015204.2	361	tGc/tAc	0	.	A:0.0008	.	A:0	.	T	C/Y	protein_coding	YES	CCDS47543.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCACTCT	NONE	by1000G	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Gene3D:2.20.100.10,Superfamily_domains:SSF82895	A:0	.	ENSP00000406482	A:0	3/28	.	.	.	.	.	.	.	.	rs558393471	3/28	PASS	ENST00000423059	Transcript	.	A:0.0002	ENSG00000005108	22207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	A:0	deleterious(0.02)	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,missense_variant,p.Cys361Tyr,ENST00000423059,;	1334	117	125	SUCCESS
KDM7A	80853	.	GRCh37	7	139876582	139876582	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	39	0	ENST00000397560.2:c.156G>C	p.Met52Ile	p.M52I	ENST00000397560	NM_030647.1	52	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS43658.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGATCATGAA	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15,PROSITE_patterns:PS01359,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000380692	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0.04)	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,missense_variant,p.Met52Ile,ENST00000006967,;KDM7A,missense_variant,p.Met52Ile,ENST00000397560,;JHDM1D-AS1,upstream_gene_variant,,ENST00000566699,;	254	39	65	SUCCESS
PKD1L1	168507	.	GRCh37	7	47876604	47876604	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	262	75	269	0	ENST00000289672.2:c.5858A>G	p.His1953Arg	p.H1953R	ENST00000289672	NM_138295.3	1953	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS34633.1	5858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTGCAGG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	37/57	.	.	.	.	.	.	.	.	.	37/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.17)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.His1953Arg,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	5909	269	338	SUCCESS
POM121L12	285877	.	GRCh37	7	53103948	53103948	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755281512	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	38	0	ENST00000408890.4:c.584C>G	p.Pro195Arg	p.P195R	ENST00000408890	NM_182595.3	195	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS43584.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCGTTGT	BUFFER|p.F198F|c.594C>T|6	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25,Pfam_domain:PF15229	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	rs755281512	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Pro195Arg,ENST00000408890,;	600	38	67	SUCCESS
MLXIPL	51085	.	GRCh37	7	73020062	73020062	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	65	119	1	ENST00000313375.3:c.857T>G	p.Leu286Arg	p.L286R	ENST00000313375	NM_032953.2	286	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5553.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCAGGTCC	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0.02)	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Leu286Arg,ENST00000313375,;MLXIPL,missense_variant,p.Leu193Arg,ENST00000434326,;MLXIPL,missense_variant,p.Leu193Arg,ENST00000395189,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000429400,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000354613,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000414749,;MLXIPL,intron_variant,,ENST00000453275,;MLXIPL,downstream_gene_variant,,ENST00000456640,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;	905	120	146	SUCCESS
RECQL4	9401	.	GRCh37	8	145741755	145741755	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	20	0	ENST00000428558.2:c.748G>C	p.Gly250Arg	p.G250R	ENST00000428558	NM_004260.3	250	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	.	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCACAC	BUFFER|p.S246S|c.738C>T|4	.	.	.	.	.	ENSP00000475456	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.18)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Gly91Arg,ENST00000524998,;RECQL4,missense_variant,p.Gly250Arg,ENST00000428558,;LRRC14,upstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000534626,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,downstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,3_prime_UTR_variant,,ENST00000534538,;RECQL4,upstream_gene_variant,,ENST00000301323,;RECQL4,downstream_gene_variant,,ENST00000534270,;LRRC14,upstream_gene_variant,,ENST00000531310,;	790	20	37	SUCCESS
FGF20	26281	.	GRCh37	8	16850701	16850701	+	synonymous_variant	Silent	SNP	G	G	A	rs376980441	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	45	105	0	ENST00000180166.5:c.516C>T	p.Asp172=	p.D172=	ENST00000180166	NM_019851.2	172	gaC/gaT	0	A:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS5998.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCGTCTTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11486:SF72,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353	.	A:0	ENSP00000180166	.	3/3	.	.	.	.	.	.	.	.	rs376980441,COSM2872951	3/3	PASS	ENST00000180166	Transcript	1	.	ENSG00000078579	3677	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FGF20_HUMAN	FGF20	HGNC	.	.	UPI00000374AE	SNV	FGF20,synonymous_variant,p.%3D,ENST00000180166,;FGF20,synonymous_variant,p.%3D,ENST00000519941,;	665	105	134	SUCCESS
MYOM2	9172	.	GRCh37	8	2054129	2054129	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	98	124	0	ENST00000262113.4:c.2832T>C	p.Cys944=	p.C944=	ENST00000262113	NM_003970.2	944	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS5957.1	2832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTAAATC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000262113	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,synonymous_variant,p.%3D,ENST00000523438,;MYOM2,synonymous_variant,p.%3D,ENST00000262113,;MYOM2,non_coding_transcript_exon_variant,,ENST00000517520,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518203,;MYOM2,downstream_gene_variant,,ENST00000519372,;MYOM2,upstream_gene_variant,,ENST00000523443,;	2973	124	161	SUCCESS
CLU	1191	.	GRCh37	8	27472180	27472180	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	195	238	1	ENST00000316403.10:c.-38C>T		p.*13*	ENST00000316403				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47832.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGGCACC	NONE	.	.	.	.	.	ENSP00000315130	.	1/9	.	.	.	.	.	.	.	.	COSM3395256	1/9	PASS	ENST00000316403	Transcript	.	.	ENSG00000120885	2095	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CLUS_HUMAN	CLU	HGNC	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN	.	UPI0000127BA6	SNV	CLU,missense_variant,p.Pro40Leu,ENST00000560366,;CLU,5_prime_UTR_variant,,ENST00000316403,;CLU,5_prime_UTR_variant,,ENST00000523589,;CLU,5_prime_UTR_variant,,ENST00000519472,;CLU,5_prime_UTR_variant,,ENST00000522413,;CLU,5_prime_UTR_variant,,ENST00000523396,;CLU,upstream_gene_variant,,ENST00000560566,;CLU,upstream_gene_variant,,ENST00000523500,;CLU,upstream_gene_variant,,ENST00000520796,;CLU,upstream_gene_variant,,ENST00000546343,;CLU,upstream_gene_variant,,ENST00000520491,;CLU,upstream_gene_variant,,ENST00000519742,;CLU,upstream_gene_variant,,ENST00000405140,;CLU,upstream_gene_variant,,ENST00000522238,;CLU,non_coding_transcript_exon_variant,,ENST00000518050,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;	369	239	235	SUCCESS
SPIDR	23514	.	GRCh37	8	48309166	48309166	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	94	0	ENST00000297423.4:c.756A>T	p.Ser252=	p.S252=	ENST00000297423	NM_001080394.2	252	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43737.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAGCAAA	NONE	.	.	Pfam_domain:PF14950	.	.	ENSP00000297423	.	6/20	.	.	.	.	.	.	.	.	COSM605599	6/20	PASS	ENST00000297423	Transcript	.	.	ENSG00000164808	28971	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SPIDR_HUMAN	SPIDR	HGNC	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN	.	UPI0000253B92	SNV	SPIDR,synonymous_variant,p.%3D,ENST00000541342,;SPIDR,synonymous_variant,p.%3D,ENST00000297423,;SPIDR,synonymous_variant,p.%3D,ENST00000518074,;SPIDR,intron_variant,,ENST00000524006,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521918,;SPIDR,intron_variant,,ENST00000521550,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000523814,;SPIDR,3_prime_UTR_variant,,ENST00000517824,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;SPIDR,intron_variant,,ENST00000524126,;SPIDR,intron_variant,,ENST00000519661,;SPIDR,intron_variant,,ENST00000524033,;	1140	94	89	SUCCESS
CIZ1	25792	.	GRCh37	9	130941315	130941315	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780756425	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	76	103	0	ENST00000372938.5:c.1171G>A	p.Val391Met	p.V391M	ENST00000372938	NM_001131016.1	391	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS6894.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACCTGCC	NONE	.	.	hmmpanther:PTHR15491:SF9,hmmpanther:PTHR15491	.	.	ENSP00000377232	.	8/17	.	.	.	.	.	.	.	.	rs780756425	8/17	PASS	ENST00000393608	Transcript	.	.	ENSG00000148337	16744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated_low_confidence(0.16)	.	CIZ1_HUMAN	CIZ1	HGNC	Q9Y3F8_HUMAN,F6WSM2_HUMAN,F6VD24_HUMAN,B0EXJ7_HUMAN	.	UPI0000141722	SNV	CIZ1,missense_variant,p.Val362Met,ENST00000325721,;CIZ1,missense_variant,p.Val391Met,ENST00000357558,;CIZ1,missense_variant,p.Val313Met,ENST00000415526,;CIZ1,missense_variant,p.Val391Met,ENST00000538431,;CIZ1,missense_variant,p.Val391Met,ENST00000372938,;CIZ1,missense_variant,p.Val391Met,ENST00000277465,;CIZ1,missense_variant,p.Val290Met,ENST00000541172,;CIZ1,missense_variant,p.Val391Met,ENST00000393608,;CIZ1,intron_variant,,ENST00000372948,;CIZ1,intron_variant,,ENST00000372954,;CIZ1,downstream_gene_variant,,ENST00000324544,;CIZ1,intron_variant,,ENST00000476239,;CIZ1,intron_variant,,ENST00000476727,;CIZ1,downstream_gene_variant,,ENST00000498156,;CIZ1,upstream_gene_variant,,ENST00000475471,;CIZ1,downstream_gene_variant,,ENST00000474442,;CIZ1,downstream_gene_variant,,ENST00000467178,;CIZ1,downstream_gene_variant,,ENST00000491954,;CIZ1,downstream_gene_variant,,ENST00000488559,;CIZ1,upstream_gene_variant,,ENST00000471839,;	1374	103	164	SUCCESS
DOCK8	81704	.	GRCh37	9	429834	429834	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	108	1	ENST00000432829.2:c.4402T>C	p.Phe1468Leu	p.F1468L	ENST00000432829	NM_203447.3	1468	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS6440.2	4606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTTCAGT	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Superfamily_domains:SSF48371	.	.	ENSP00000408464	.	36/48	.	.	.	.	.	.	.	.	COSM3907490,COSM3907489	36/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.103)	.	tolerated(0.06)	1,1	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Phe1468Leu,ENST00000432829,;DOCK8,missense_variant,p.Phe1536Leu,ENST00000453981,;DOCK8,missense_variant,p.Phe1436Leu,ENST00000469391,;DOCK8,missense_variant,p.Phe1003Leu,ENST00000382329,;DOCK8,downstream_gene_variant,,ENST00000493666,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	4718	109	127	SUCCESS
ATG4A	115201	.	GRCh37	X	107335012	107335012	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	78	0	ENST00000372232.3:c.-45G>T		p.*15*	ENST00000372232	NM_052936.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14538.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCGTAGTC	NONE	.	.	.	.	.	ENSP00000361306	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000372232	Transcript	.	.	ENSG00000101844	16489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG4A_HUMAN	ATG4A	HGNC	.	.	UPI000000DCAF	SNV	ATG4A,5_prime_UTR_variant,,ENST00000372254,;ATG4A,5_prime_UTR_variant,,ENST00000372232,;ATG4A,5_prime_UTR_variant,,ENST00000345734,;ATG4A,5_prime_UTR_variant,,ENST00000457035,;PSMD10,upstream_gene_variant,,ENST00000340200,;PSMD10,upstream_gene_variant,,ENST00000361815,;PSMD10,upstream_gene_variant,,ENST00000372296,;ATG4A,upstream_gene_variant,,ENST00000545696,;PSMD10,upstream_gene_variant,,ENST00000372295,;PSMD10,upstream_gene_variant,,ENST00000217958,;PSMD10,upstream_gene_variant,,ENST00000338548,;ATG4A,upstream_gene_variant,,ENST00000343524,;ATG4A,upstream_gene_variant,,ENST00000372246,;PSMD10,upstream_gene_variant,,ENST00000553388,;	115	78	103	SUCCESS
DMD	1756	.	GRCh37	X	31747756	31747756	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778691311	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	60	188	1	ENST00000357033.4:c.7652C>T	p.Thr2551Met	p.T2551M	ENST00000357033	NM_004007.2	2551	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14233.1	7652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGTAATG	SITE|p.T2551M|c.7652C>T|3,SITE|p.T2547M|c.7640C>T|5,SITE|p.T2547M|c.7640C>T|5,SITE|p.T91M|c.272C>T|5,CODON|p.T1210M|c.3629C>T|4,BUFFER|p.R93*|c.277C>T|4,BUFFER|p.R1212*|c.3634C>T|3,BUFFER|p.R2553*|c.7657C>T|3,BUFFER|p.R2549*|c.7645C>T|4,BUFFER|p.R2549*|c.7645C>T|4	byFrequency	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	52/79	.	.	.	.	.	.	.	.	rs778691311,COSM242513,COSM3357427,COSM242515,COSM302064,COSM242514	52/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	possibly_damaging(0.897)	.	.	0,1,1,1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Thr2551Met,ENST00000357033,;DMD,missense_variant,p.Thr247Met,ENST00000358062,;DMD,missense_variant,p.Thr91Met,ENST00000343523,;DMD,missense_variant,p.Thr91Met,ENST00000378707,;DMD,missense_variant,p.Thr91Met,ENST00000474231,;DMD,missense_variant,p.Thr2547Met,ENST00000378677,;DMD,missense_variant,p.Thr91Met,ENST00000359836,;DMD,missense_variant,p.Thr91Met,ENST00000541735,;DMD,downstream_gene_variant,,ENST00000471779,;	7859	189	181	SUCCESS
MAGEE1	57692	.	GRCh37	X	75649900	75649900	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	114	0	ENST00000361470.2:c.1577G>A	p.Arg526His	p.R526H	ENST00000361470	NM_020932.2	526	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14433.1	1577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCGCAACC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736:SF9,hmmpanther:PTHR11736,PROSITE_profiles:PS50838	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0.04)	.	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,missense_variant,p.Arg526His,ENST00000361470,;	1855	114	95	SUCCESS
GTF2H1	2965	.	GRCh37	11	18369105	18369105	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	15	0	ENST00000265963.4:c.838-30A>T		p.*280*	ENST00000265963	NM_005316.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7838.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAAAAAA	NONE	.	.	.	.	.	ENSP00000265963	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000265963	Transcript	.	.	ENSG00000110768	4655	.	.	MODIFIER	7/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF2H1_HUMAN	GTF2H1	HGNC	F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN	.	UPI0000136C8A	SNV	GTF2H1,5_prime_UTR_variant,,ENST00000530496,;GTF2H1,intron_variant,,ENST00000265963,;GTF2H1,intron_variant,,ENST00000534641,;GTF2H1,intron_variant,,ENST00000453096,;GTF2H1,intron_variant,,ENST00000524753,;GTF2H1,upstream_gene_variant,,ENST00000526630,;GTF2H1,intron_variant,,ENST00000418116,;GTF2H1,upstream_gene_variant,,ENST00000526282,;GTF2H1,upstream_gene_variant,,ENST00000528427,;	.	15	30	SUCCESS
NAV2	89797	.	GRCh37	11	20083871	20083871	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750879622	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	21	18	0	ENST00000396087.3:c.5018C>T	p.Ser1673Phe	p.S1673F	ENST00000396087	NM_001244963.1	1673	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS58126.1	5018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCCTTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	22/41	.	.	.	.	.	.	.	.	rs750879622,COSM1703701	22/41	nonpreferredpair	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,missense_variant,p.Ser1553Phe,ENST00000360655,;NAV2,missense_variant,p.Ser666Phe,ENST00000525322,;NAV2,missense_variant,p.Ser681Phe,ENST00000533917,;NAV2,missense_variant,p.Ser1602Phe,ENST00000527559,;NAV2,missense_variant,p.Ser1617Phe,ENST00000349880,;NAV2,missense_variant,p.Ser1673Phe,ENST00000396087,;NAV2,missense_variant,p.Ser1617Phe,ENST00000396085,;NAV2,missense_variant,p.Ser1604Phe,ENST00000540292,;NAV2,missense_variant,p.Ser681Phe,ENST00000311043,;	5117	18	39	SUCCESS
GAS2	2620	.	GRCh37	11	22777439	22777439	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	34	70	0	ENST00000278187.3:c.663C>G	p.Phe221Leu	p.F221L	ENST00000278187	NM_177553.2	221	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7858.1	663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCTGTGT	NONE	.	.	PROSITE_profiles:PS51460,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF114,Pfam_domain:PF02187,Gene3D:1v5rA00,SMART_domains:SM00243,Superfamily_domains:0050058	.	.	ENSP00000401145	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000454584	Transcript	.	.	ENSG00000148935	4167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.438)	.	tolerated(0.11)	.	GAS2_HUMAN	GAS2	HGNC	E9PRR5_HUMAN,E9PQ74_HUMAN,E9PQ37_HUMAN,E9PM28_HUMAN	.	UPI000000D98C	SNV	GAS2,missense_variant,p.Phe221Leu,ENST00000433790,;GAS2,missense_variant,p.Phe221Leu,ENST00000278187,;GAS2,missense_variant,p.Phe221Leu,ENST00000454584,;GAS2,non_coding_transcript_exon_variant,,ENST00000526665,;GAS2,3_prime_UTR_variant,,ENST00000524701,;	968	70	124	SUCCESS
CERS5	91012	.	GRCh37	12	50529577	50529577	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	39	101	0	ENST00000317551.6:c.810C>T	p.Asp270=	p.D270=	ENST00000317551	NM_147190.2	270	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS8801.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGTCACA	NONE	.	.	PIRSF_domain:PIRSF005225,SMART_domains:SM00724,Pfam_domain:PF03798,hmmpanther:PTHR12560:SF8,hmmpanther:PTHR12560,PROSITE_profiles:PS50922	.	.	ENSP00000325485	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000317551	Transcript	.	.	ENSG00000139624	23749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CERS5_HUMAN	CERS5	HGNC	F8W1K4_HUMAN	.	UPI000007101F	SNV	CERS5,synonymous_variant,p.%3D,ENST00000422340,;CERS5,synonymous_variant,p.%3D,ENST00000550919,;CERS5,synonymous_variant,p.%3D,ENST00000547800,;CERS5,synonymous_variant,p.%3D,ENST00000317551,;CERS5,synonymous_variant,p.%3D,ENST00000550547,;CERS5,upstream_gene_variant,,ENST00000553122,;CERS5,non_coding_transcript_exon_variant,,ENST00000547138,;RP4-605O3.4,intron_variant,,ENST00000548468,;CERS5,upstream_gene_variant,,ENST00000548942,;CERS5,synonymous_variant,p.%3D,ENST00000551697,;CERS5,3_prime_UTR_variant,,ENST00000542320,;CERS5,3_prime_UTR_variant,,ENST00000547787,;CERS5,3_prime_UTR_variant,,ENST00000438450,;CERS5,3_prime_UTR_variant,,ENST00000380189,;CERS5,non_coding_transcript_exon_variant,,ENST00000546676,;CERS5,non_coding_transcript_exon_variant,,ENST00000551005,;CERS5,upstream_gene_variant,,ENST00000550079,;CERS5,upstream_gene_variant,,ENST00000546406,;CERS5,upstream_gene_variant,,ENST00000551757,;CERS5,downstream_gene_variant,,ENST00000549089,;	935	101	104	SUCCESS
AGAP2	116986	.	GRCh37	12	58125709	58125709	+	synonymous_variant	Silent	SNP	G	G	A	rs750480607	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	47	84	0	ENST00000547588.1:c.1836C>T	p.Leu612=	p.L612=	ENST00000547588	NM_001122772.2	612	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44932.1	1836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGGAGGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218	.	.	ENSP00000449241	.	8/19	.	.	.	.	.	.	.	.	rs750480607	8/19	nonpreferredpair	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,synonymous_variant,p.%3D,ENST00000257897,;AGAP2,synonymous_variant,p.%3D,ENST00000328568,;AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2,upstream_gene_variant,,ENST00000549129,;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,;	1836	84	101	SUCCESS
PPFIA2	8499	.	GRCh37	12	81657137	81657137	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	5	121	0	ENST00000549396.1:c.3588C>A	p.Thr1196=	p.T1196=	ENST00000549396	NM_003625.3	1196	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS55857.1	3588	MUTECT|MUSE	.	CTCCAGGTTGA	NONE	.	.	hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	31/33	.	.	.	.	.	.	.	.	.	31/33	nonpreferredpair	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,synonymous_variant,p.%3D,ENST00000333447,;PPFIA2,synonymous_variant,p.%3D,ENST00000407050,;PPFIA2,synonymous_variant,p.%3D,ENST00000541570,;PPFIA2,synonymous_variant,p.%3D,ENST00000443686,;PPFIA2,synonymous_variant,p.%3D,ENST00000550359,;PPFIA2,synonymous_variant,p.%3D,ENST00000548586,;PPFIA2,synonymous_variant,p.%3D,ENST00000549396,;PPFIA2,synonymous_variant,p.%3D,ENST00000549325,;PPFIA2,synonymous_variant,p.%3D,ENST00000541017,;PPFIA2,synonymous_variant,p.%3D,ENST00000550584,;PPFIA2,synonymous_variant,p.%3D,ENST00000552948,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	3749	121	157	SUCCESS
EDNRB	1910	.	GRCh37	13	78474006	78474006	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	14	31	0	ENST00000334286.5:c.1182A>G	p.Lys394=	p.K394=	ENST00000334286	NM_001122659.2	394	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS55902.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTTTGAA	NONE	.	.	hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366416	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,synonymous_variant,p.%3D,ENST00000446573,;EDNRB,synonymous_variant,p.%3D,ENST00000377211,;EDNRB,synonymous_variant,p.%3D,ENST00000334286,;	1605	31	18	SUCCESS
UNC13C	440279	.	GRCh37	15	54914531	54914531	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	87	0	ENST00000260323.11:c.6114del	p.Ser2039ProfsTer27	p.S2039Pfs*27	ENST00000260323	NM_001080534.1	2038	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS45264.1	6113	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCGTTCCTCCA	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	30/32	.	.	.	.	.	.	.	.	COSM3502509,COSM3502510,COSM3502511	30/32	nonpreferredpair	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	1,1,1	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	deletion	UNC13C,frameshift_variant,p.Ser2037ProfsTer27,ENST00000537900,;UNC13C,frameshift_variant,p.Ser2039ProfsTer27,ENST00000545554,;UNC13C,frameshift_variant,p.Ser2039ProfsTer27,ENST00000260323,;UNC13C,5_prime_UTR_variant,,ENST00000560537,;UNC13C,5_prime_UTR_variant,,ENST00000539562,;	6113	87	138	SUCCESS
ITGAL	3683	.	GRCh37	16	30525112	30525112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	63	106	0	ENST00000356798.6:c.2807A>G	p.Tyr936Cys	p.Y936C	ENST00000356798	NM_002209.2	936	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32433.1	2807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTATGTCA	NONE	.	.	Pfam_domain:PF08441,hmmpanther:PTHR23220:SF70,hmmpanther:PTHR23220	.	.	ENSP00000349252	.	25/31	.	.	.	.	.	.	.	.	.	25/31	nonpreferredpair	ENST00000356798	Transcript	.	.	ENSG00000005844	6148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ITAL_HUMAN	ITGAL	HGNC	I3L468_HUMAN,H3BNL5_HUMAN	.	UPI000013C4FF	SNV	ITGAL,missense_variant,p.Tyr170Cys,ENST00000433423,;ITGAL,missense_variant,p.Tyr852Cys,ENST00000358164,;ITGAL,missense_variant,p.Tyr936Cys,ENST00000356798,;ITGAL,non_coding_transcript_exon_variant,,ENST00000566267,;ITGAL,downstream_gene_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000563615,;	2987	106	114	SUCCESS
ITGAM	3684	.	GRCh37	16	31282347	31282347	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1567249191	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	57	178	1	ENST00000287497.8:c.500G>A	p.Arg167Gln	p.R167Q	ENST00000287497		167	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54004.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGGCGGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000441691	.	6/30	.	.	.	.	.	.	.	.	.	6/30	nonpreferredpair	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,missense_variant,p.Arg167Gln,ENST00000287497,;ITGAM,missense_variant,p.Arg167Gln,ENST00000544665,;ITGAM,upstream_gene_variant,,ENST00000567031,;RNU7-199P,upstream_gene_variant,,ENST00000517067,;ITGAM,upstream_gene_variant,,ENST00000570242,;	571	179	181	SUCCESS
BBS2	583	.	GRCh37	16	56548459	56548459	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	99	192	0	ENST00000245157.5:c.251A>T	p.Asn84Ile	p.N84I	ENST00000245157	NM_031885.3	84	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS32451.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTTCAAT	NONE	.	.	Superfamily_domains:SSF50978,PIRSF_domain:PIRSF013684,Pfam_domain:PF14781,hmmpanther:PTHR32465,hmmpanther:PTHR32465:SF0	.	.	ENSP00000245157	.	2/17	.	.	.	.	.	.	.	.	.	2/17	nonpreferredpair	ENST00000245157	Transcript	.	.	ENSG00000125124	967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.17)	.	BBS2_HUMAN	BBS2	HGNC	Q8ND60_HUMAN,J3QLW0_HUMAN	.	UPI0000167B72	SNV	BBS2,missense_variant,p.Asn84Ile,ENST00000568104,;BBS2,missense_variant,p.Asn84Ile,ENST00000245157,;BBS2,5_prime_UTR_variant,,ENST00000569941,;BBS2,non_coding_transcript_exon_variant,,ENST00000566689,;BBS2,non_coding_transcript_exon_variant,,ENST00000565378,;BBS2,upstream_gene_variant,,ENST00000561951,;BBS2,non_coding_transcript_exon_variant,,ENST00000569342,;BBS2,non_coding_transcript_exon_variant,,ENST00000565781,;BBS2,upstream_gene_variant,,ENST00000562012,;BBS2,upstream_gene_variant,,ENST00000565859,;	672	192	128	SUCCESS
MYH8	4626	.	GRCh37	17	10315757	10315757	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	172	282	0	ENST00000403437.2:c.1346A>T	p.Gln449Leu	p.Q449L	ENST00000403437	NM_002472.2	449	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11153.1	1346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTGCTGG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000384330	.	14/40	.	.	.	.	.	.	.	.	.	14/40	nonpreferredpair	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.06)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Gln449Leu,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1441	282	411	SUCCESS
ABR	29	.	GRCh37	17	909373	909374	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs750897785	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	119	0	ENST00000302538.5:c.2526dup	p.Ile843HisfsTer46	p.I843Hfs*46	ENST00000302538	NM_021962.3	842	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS10999.1	2526-2527	INDELOCATOR|VARSCANI	.	GGAAATGGGGG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182	.	.	ENSP00000303909	.	23/23	.	.	.	.	.	.	.	.	rs750897785,COSM112051	23/23	nonpreferredpair	ENST00000302538	Transcript	.	.	ENSG00000159842	81	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	ABR_HUMAN	ABR	HGNC	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN	.	UPI00001AED3D	insertion	ABR,frameshift_variant,p.Ile173HisfsTer?,ENST00000573559,;ABR,frameshift_variant,p.Ile806HisfsTer46,ENST00000291107,;ABR,frameshift_variant,p.Ile797HisfsTer46,ENST00000574437,;ABR,frameshift_variant,p.Ile294HisfsTer?,ENST00000543210,;ABR,frameshift_variant,p.Ile797HisfsTer46,ENST00000544583,;ABR,frameshift_variant,p.Ile625HisfsTer?,ENST00000536794,;ABR,frameshift_variant,p.Ile843HisfsTer46,ENST00000302538,;ABR,intron_variant,,ENST00000571797,;ABR,intron_variant,,ENST00000572441,;TIMM22,downstream_gene_variant,,ENST00000327158,;ABR,downstream_gene_variant,,ENST00000571383,;ABR,downstream_gene_variant,,ENST00000571120,;ABR,downstream_gene_variant,,ENST00000571022,;ABR,non_coding_transcript_exon_variant,,ENST00000572585,;ABR,downstream_gene_variant,,ENST00000570688,;ABR,downstream_gene_variant,,ENST00000572650,;ABR,downstream_gene_variant,,ENST00000572152,;	2673-2674	120	123	SUCCESS
FHOD3	80206	.	GRCh37	18	34340646	34340647	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GT	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	114	72	98	0	ENST00000359247.4:c.3925_3926insGT	p.Glu1309GlyfsTer6	p.E1309Gfs*6	ENST00000359247	NM_001281739.1	1309	gag/gGTag	0	.	.	.	.	.	GT	E/GX	protein_coding	YES	CCDS32816.1	3976-3977	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCTGAGCAC	NONE	.	.	hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,SMART_domains:SM00498	.	.	ENSP00000257209	.	23/25	.	.	.	.	.	.	.	.	.	23/25	nonpreferredpair	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	insertion	FHOD3,frameshift_variant,p.Glu1288GlyfsTer6,ENST00000445677,;FHOD3,frameshift_variant,p.Glu1087GlyfsTer6,ENST00000592930,;FHOD3,frameshift_variant,p.Glu1326GlyfsTer6,ENST00000257209,;FHOD3,frameshift_variant,p.Glu1509GlyfsTer6,ENST00000590592,;FHOD3,frameshift_variant,p.Glu522GlyfsTer6,ENST00000591635,;FHOD3,frameshift_variant,p.Glu305GlyfsTer6,ENST00000592128,;FHOD3,frameshift_variant,p.Glu1309GlyfsTer6,ENST00000359247,;FHOD3,intron_variant,,ENST00000585579,;	4098-4099	98	186	SUCCESS
CDH19	28513	.	GRCh37	18	64239420	64239420	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs368840152	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	70	84	0	ENST00000262150.2:c.22C>G	p.Arg8Gly	p.R8G	ENST00000262150	NM_021153.3	8	Cgt/Ggt	0	A:0.0002	.	.	.	.	C	R/G	protein_coding	YES	CCDS11994.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACGCAGCA	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027	.	A:0	ENSP00000262150	.	2/12	.	.	.	.	.	.	.	.	rs368840152	2/12	nonpreferredpair	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.33)	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,missense_variant,p.Arg8Gly,ENST00000540086,;CDH19,missense_variant,p.Arg8Gly,ENST00000262150,;CDH19,missense_variant,p.Arg8Gly,ENST00000580157,;CDH19,upstream_gene_variant,,ENST00000454642,;CDH19,missense_variant,p.Arg8Gly,ENST00000579658,;	315	84	132	SUCCESS
CCDC151	0	.	GRCh37	19	11534579	11534580	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	43	0	ENST00000356392.4:c.1082dup	p.Val362GlyfsTer8	p.V362Gfs*8	ENST00000356392	NM_145045.4	361	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS42501.1	1082-1083	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGACCTTGCC	NONE	.	.	hmmpanther:PTHR21694:SF1,hmmpanther:PTHR21694	.	.	ENSP00000348757	.	8/13	.	.	.	.	.	.	.	.	.	8/13	nonpreferredpair	ENST00000356392	Transcript	1	.	ENSG00000198003	28303	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC151_HUMAN	CCDC151	HGNC	K7EPK8_HUMAN,B7ZMB9_HUMAN	.	UPI000040CC83	insertion	CCDC151,frameshift_variant,p.Val302GlyfsTer8,ENST00000591179,;CCDC151,frameshift_variant,p.Val362GlyfsTer8,ENST00000356392,;CCDC151,frameshift_variant,p.Val171GlyfsTer8,ENST00000586836,;CCDC151,frameshift_variant,p.Val308GlyfsTer8,ENST00000545100,;RGL3,upstream_gene_variant,,ENST00000380456,;RGL3,upstream_gene_variant,,ENST00000567080,;RGL3,upstream_gene_variant,,ENST00000393423,;RGL3,upstream_gene_variant,,ENST00000561570,;CCDC151,3_prime_UTR_variant,,ENST00000591345,;RGL3,upstream_gene_variant,,ENST00000453604,;RGL3,upstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000563726,;RGL3,upstream_gene_variant,,ENST00000568420,;RGL3,upstream_gene_variant,,ENST00000562663,;	1170-1171	43	54	SUCCESS
ZNF443	10224	.	GRCh37	19	12542333	12542333	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143162114	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	18	133	0	ENST00000301547.5:c.653C>T	p.Thr218Met	p.T218M	ENST00000301547	NM_005815.4	218	aCg/aTg	0	A:0.0002	A:0.0015	.	A:0	.	A	T/M	protein_coding	YES	CCDS32918.1	653	MUTECT|MUSE	.	TGTGCGTTCTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF16,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0	A:0.001	ENSP00000301547	A:0	4/4	.	.	.	.	.	.	.	.	rs143162114,COSM3692371	4/4	common_in_exac,nonpreferredpair	ENST00000301547	Transcript	.	A:0.0004	ENSG00000180855	20878	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.23)	A:0	tolerated(0.08)	0,1	ZN443_HUMAN	ZNF443	HGNC	F8WDY2_HUMAN	.	UPI000020344A	SNV	ZNF443,missense_variant,p.Thr218Met,ENST00000301547,;CTD-3105H18.16,intron_variant,,ENST00000595562,;ZNF443,downstream_gene_variant,,ENST00000436821,;CTD-3105H18.18,downstream_gene_variant,,ENST00000598753,;	851	133	272	SUCCESS
APC2	10297	.	GRCh37	19	1456316	1456316	+	synonymous_variant	Silent	SNP	G	G	A	rs138830892	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	62	149	0	ENST00000233607.2:c.729G>A	p.Ala243=	p.A243=	ENST00000233607	NM_005883.2	243	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12068.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGTGAA	NONE	.	.	Gene3D:1.10.287.450,hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607	.	.	ENSP00000442954	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	SNV	APC2,synonymous_variant,p.%3D,ENST00000233607,;APC2,synonymous_variant,p.%3D,ENST00000590469,;APC2,synonymous_variant,p.%3D,ENST00000535453,;APC2,intron_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000587149,;C19orf25,downstream_gene_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000587869,;APC2,downstream_gene_variant,,ENST00000590877,;CTB-25B13.12,downstream_gene_variant,,ENST00000588225,;APC2,non_coding_transcript_exon_variant,,ENST00000593146,;CTB-25B13.12,downstream_gene_variant,,ENST00000591252,;	2442	149	186	SUCCESS
BRD4	23476	.	GRCh37	19	15349580	15349580	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	61	93	0	ENST00000263377.2:c.3994G>T	p.Glu1332Ter	p.E1332*	ENST00000263377	NM_058243.2	1332	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12328.1	3994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCCGCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000263377	.	19/20	.	.	.	.	.	.	.	.	.	19/20	nonpreferredpair	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,stop_gained,p.Glu1332Ter,ENST00000263377,;AC004257.3,upstream_gene_variant,,ENST00000602793,;	4216	93	123	SUCCESS
CHERP	10523	.	GRCh37	19	16636060	16636060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	59	136	0	ENST00000546361.2:c.1734C>G	p.Phe578Leu	p.F578L	ENST00000546361	NM_006387.5	578	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS42518.1	1734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGAAGTC	NONE	.	.	hmmpanther:PTHR12323	.	.	ENSP00000439856	.	10/17	.	.	.	.	.	.	.	.	.	10/17	nonpreferredpair	ENST00000546361	Transcript	.	.	ENSG00000085872	16930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	tolerated_low_confidence(0.14)	.	CHERP_HUMAN	CHERP	HGNC	.	.	UPI00001AE5BE	SNV	CHERP,missense_variant,p.Phe578Leu,ENST00000546361,;CHERP,missense_variant,p.Phe589Leu,ENST00000198939,;C19orf44,downstream_gene_variant,,ENST00000221671,;CHERP,non_coding_transcript_exon_variant,,ENST00000544299,;CTD-3222D19.2,intron_variant,,ENST00000409035,;CHERP,upstream_gene_variant,,ENST00000600432,;C19orf44,downstream_gene_variant,,ENST00000593380,;C19orf44,downstream_gene_variant,,ENST00000601109,;	1886	136	168	SUCCESS
GTPBP3	84705	.	GRCh37	19	17448375	17448376	+	5_prime_UTR_variant	5'UTR	INS	-	-	AGCC	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	150	45	132	0	ENST00000324894.8:c.-44_-41dup		p.*15*	ENST00000324894	NM_133644.3			0	.	.	.	.	.	AGCC	.	protein_coding	YES	CCDS32950.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTGAAGCCA	NONE	.	.	.	.	.	ENSP00000351644	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000358792	Transcript	1	.	ENSG00000130299	14880	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GTPB3_HUMAN	GTPBP3	HGNC	.	.	UPI000059D6A7	insertion	GTPBP3,5_prime_UTR_variant,,ENST00000324894,;GTPBP3,5_prime_UTR_variant,,ENST00000358792,;GTPBP3,5_prime_UTR_variant,,ENST00000600625,;GTPBP3,intron_variant,,ENST00000361619,;ANO8,upstream_gene_variant,,ENST00000159087,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000598038,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000593297,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000596166,;GTPBP3,intron_variant,,ENST00000596218,;GTPBP3,intron_variant,,ENST00000595951,;GTPBP3,intron_variant,,ENST00000600995,;GTPBP3,intron_variant,,ENST00000596941,;GTPBP3,intron_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,5_prime_UTR_variant,,ENST00000598493,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000601261,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000599429,;GTPBP3,intron_variant,,ENST00000601213,;GTPBP3,upstream_gene_variant,,ENST00000602165,;GTPBP3,upstream_gene_variant,,ENST00000600610,;GTPBP3,upstream_gene_variant,,ENST00000594703,;GTPBP3,upstream_gene_variant,,ENST00000601983,;GTPBP3,upstream_gene_variant,,ENST00000599329,;GTPBP3,upstream_gene_variant,,ENST00000596001,;ANO8,upstream_gene_variant,,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000595194,;GTPBP3,upstream_gene_variant,,ENST00000596125,;ANO8,upstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000602056,;GTPBP3,upstream_gene_variant,,ENST00000594018,;	12-13	132	195	SUCCESS
ZNF431	170959	.	GRCh37	19	21366647	21366647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	31	0	ENST00000311048.7:c.1541G>A	p.Cys514Tyr	p.C514Y	ENST00000311048	NM_133473.2	514	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS32979.1	1541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGTGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF118,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000308578	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000311048	Transcript	.	.	ENSG00000196705	20809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.02)	.	ZN431_HUMAN	ZNF431	HGNC	.	.	UPI0000191EAC	SNV	ZNF431,missense_variant,p.Cys514Tyr,ENST00000311048,;ZNF431,3_prime_UTR_variant,,ENST00000600692,;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000594821,;ZNF431,upstream_gene_variant,,ENST00000593426,;VN1R82P,upstream_gene_variant,,ENST00000601481,;	1685	31	69	SUCCESS
ZNF461	92283	.	GRCh37	19	37130125	37130125	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	46	0	ENST00000588268.1:c.1122A>T	p.Ile374=	p.I374=	ENST00000588268	NM_153257.2	374	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54257.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTATAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF277,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000467931	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000588268	Transcript	.	.	ENSG00000197808	21629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN461_HUMAN	ZNF461	HGNC	K7EJM1_HUMAN,K7EIW1_HUMAN	.	UPI00002021CA	SNV	ZNF461,synonymous_variant,p.%3D,ENST00000360357,;ZNF461,synonymous_variant,p.%3D,ENST00000588268,;ZNF461,downstream_gene_variant,,ENST00000591370,;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000590361,;ZNF461,downstream_gene_variant,,ENST00000588844,;	1350	46	87	SUCCESS
ZNF585A	199704	.	GRCh37	19	37642633	37642633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	120	213	0	ENST00000292841.5:c.2003G>T	p.Cys668Phe	p.C668F	ENST00000292841	NM_152655.2	668	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS12499.1	2003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCACACTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000292841	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000292841	Transcript	.	.	ENSG00000196967	26305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	Z585A_HUMAN	ZNF585A	HGNC	.	.	UPI000007213F	SNV	ZNF585A,missense_variant,p.Cys668Phe,ENST00000292841,;ZNF585A,missense_variant,p.Cys360Phe,ENST00000355533,;ZNF585A,missense_variant,p.Cys668Phe,ENST00000392157,;ZNF585A,missense_variant,p.Cys723Phe,ENST00000356958,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	2501	213	311	SUCCESS
TSEN34	79042	.	GRCh37	19	54696036	54696036	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755901797	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	115	189	0	ENST00000302937.4:c.557A>G	p.Gln186Arg	p.Q186R	ENST00000302937	NM_024075.3	186	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS42609.1	557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAGCTGG	NONE	byFrequency	.	PIRSF_domain:PIRSF017250,hmmpanther:PTHR13070	.	.	ENSP00000379667	.	4/5	.	.	.	.	.	.	.	.	rs755901797	4/5	nonpreferredpair	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,missense_variant,p.Gln186Arg,ENST00000396383,;TSEN34,missense_variant,p.Gln186Arg,ENST00000455798,;TSEN34,missense_variant,p.Gln189Arg,ENST00000456872,;TSEN34,missense_variant,p.Gln186Arg,ENST00000396388,;TSEN34,missense_variant,p.Gln186Arg,ENST00000429671,;TSEN34,missense_variant,p.Gln186Arg,ENST00000302937,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;	868	189	236	SUCCESS
SEMA6C	10500	.	GRCh37	1	151110260	151110260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	469	27	188	0	ENST00000341697.3:c.683A>G	p.Gln228Arg	p.Q228R	ENST00000341697		228	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS53364.1	683	MUTECT|MUSE	.	AGGCCTGGACA	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,PROSITE_profiles:PS51004	.	.	ENSP00000357909	.	10/20	.	.	.	.	.	.	.	.	.	10/20	nonpreferredpair	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious(0)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Gln228Arg,ENST00000368914,;SEMA6C,missense_variant,p.Gln228Arg,ENST00000368913,;SEMA6C,missense_variant,p.Gln228Arg,ENST00000341697,;SEMA6C,missense_variant,p.Gln188Arg,ENST00000368912,;SEMA6C,non_coding_transcript_exon_variant,,ENST00000485745,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000479820,;	812	188	496	SUCCESS
PGLYRP3	114771	.	GRCh37	1	153277442	153277442	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	446	102	197	0	ENST00000290722.1:c.357C>A	p.Ala119=	p.A119=	ENST00000290722	NM_052891.1	119	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1035.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGGCGAT	BUFFER|p.A119T|c.355G>A|3	.	.	hmmpanther:PTHR11022:SF28,hmmpanther:PTHR11022,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000290722	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000290722	Transcript	.	.	ENSG00000159527	30014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGRP3_HUMAN	PGLYRP3	HGNC	.	.	UPI000006F12B	SNV	PGLYRP3,synonymous_variant,p.%3D,ENST00000290722,;	410	197	548	SUCCESS
INSRR	3645	.	GRCh37	1	156828374	156828381	+	frameshift_variant	Frame_Shift_Del	DEL	GCAGGCAT	GCAGGCAT	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	GCAGGCAT	GCAGGCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	281	28	136	0	ENST00000368195.3:c.33_40del	p.Leu13AspfsTer104	p.L13Dfs*104	ENST00000368195	NM_014215.2	11	gcATGCCTGCct/gcct	0	.	.	.	.	.	-	ACLP/AX	protein_coding	YES	CCDS1160.1	33-40	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACAGGCAGGCATGCTCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF000620	.	.	ENSP00000357178	.	1/22	.	.	.	.	.	.	.	.	.	1/22	nonpreferredpair	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	deletion	INSRR,frameshift_variant,p.Leu13AspfsTer104,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,upstream_gene_variant,,ENST00000524377,;NTRK1,upstream_gene_variant,,ENST00000358660,;NTRK1,upstream_gene_variant,,ENST00000368196,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,upstream_gene_variant,,ENST00000533630,;	430-437	136	309	SUCCESS
SPTA1	6708	.	GRCh37	1	158622406	158622406	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372281474	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	101	80	0	ENST00000368147.4:c.3226C>T	p.Arg1076Cys	p.R1076C	ENST00000368147	NM_003126.2	1076	Cgt/Tgt	0	T:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS41423.1	3226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACGTCTGC	BUFFER|p.R1074H|c.3221G>A|4	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	T:0.0001	ENSP00000357129	.	23/52	.	.	.	.	.	.	.	.	rs372281474	23/52	nonpreferredpair	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.06)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Arg1076Cys,ENST00000368147,;	3407	80	280	SUCCESS
SPTA1	6708	.	GRCh37	1	158624516	158624516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	31	57	0	ENST00000368147.4:c.2921A>G	p.Glu974Gly	p.E974G	ENST00000368147	NM_003126.2	974	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41423.1	2921	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTCCACT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150	.	.	ENSP00000357129	.	21/52	.	.	.	.	.	.	.	.	.	21/52	nonpreferredpair	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.35)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu974Gly,ENST00000368147,;	3102	57	208	SUCCESS
PVRL4	0	.	GRCh37	1	161044015	161044015	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	471	116	182	0	ENST00000368012.3:c.1149C>T	p.Thr383=	p.T383=	ENST00000368012	NM_030916.2	383	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1216.1	1149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGGTCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277	.	.	ENSP00000356991	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000368012	Transcript	.	.	ENSG00000143217	19688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRL4_HUMAN	PVRL4	HGNC	K4PZ75_HUMAN	.	UPI000006F072	SNV	PVRL4,synonymous_variant,p.%3D,ENST00000368012,;PVRL4,synonymous_variant,p.%3D,ENST00000453926,;ARHGAP30,upstream_gene_variant,,ENST00000368013,;ARHGAP30,upstream_gene_variant,,ENST00000368016,;ARHGAP30,upstream_gene_variant,,ENST00000368015,;PVRL4,non_coding_transcript_exon_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;	1452	182	587	SUCCESS
GPR52	9293	.	GRCh37	1	174417683	174417683	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	147	103	0	ENST00000367685.2:c.434A>T	p.Lys145Met	p.K145M	ENST00000367685	NM_005684.4	145	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS30941.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAAGCCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000356658	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000367685	Transcript	.	.	ENSG00000203737	4508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GPR52_HUMAN	GPR52	HGNC	F2YGU0_HUMAN	.	UPI0000153A3C	SNV	GPR52,missense_variant,p.Lys145Met,ENST00000367685,;RABGAP1L,intron_variant,,ENST00000357444,;RABGAP1L,intron_variant,,ENST00000367689,;RABGAP1L,intron_variant,,ENST00000251507,;RABGAP1L,intron_variant,,ENST00000526253,;RABGAP1L,intron_variant,,ENST00000367690,;	472	103	375	SUCCESS
CACNA1E	777	.	GRCh37	1	181479711	181479711	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369308237	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	318	62	143	0	ENST00000367573.2:c.365G>A	p.Arg122Gln	p.R122Q	ENST00000367573	NM_001205293.1	122	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS55664.1	365	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGAAGAC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	A:0.0001	ENSP00000356545	.	2/48	.	.	.	.	.	.	.	.	rs369308237,COSM677758,COSM1146072	2/48	nonpreferredpair	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.238)	.	tolerated(0.1)	0,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Arg122Gln,ENST00000360108,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000524607,;CACNA1E,missense_variant,p.Arg73Gln,ENST00000358338,;CACNA1E,missense_variant,p.Arg73Gln,ENST00000357570,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000526775,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000367570,;CACNA1E,missense_variant,p.Arg122Gln,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	365	143	380	SUCCESS
HMCN1	83872	.	GRCh37	1	186086707	186086707	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771776707	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	89	84	0	ENST00000271588.4:c.11800G>A	p.Gly3934Ser	p.G3934S	ENST00000271588	NM_031935.2	3934	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS30956.1	11800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGGTATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	77/107	.	.	.	.	.	.	.	.	rs771776707,COSM3480230	77/107	nonpreferredpair	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	.	0,1	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Gly3934Ser,ENST00000367492,;HMCN1,missense_variant,p.Gly3934Ser,ENST00000271588,;	12029	84	275	SUCCESS
TP53BP2	7159	.	GRCh37	1	223968572	223968572	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	35	0	ENST00000343537.7:c.3388C>G	p.Gln1130Glu	p.Q1130E	ENST00000343537	NM_001031685.2	1130	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS44319.1	3388	MUTECT|MUSE	.	CCTTTGTCTTG	NONE	.	.	hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131	.	.	ENSP00000341957	.	18/18	.	.	.	.	.	.	.	.	.	18/18	nonpreferredpair	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,missense_variant,p.Gln1001Glu,ENST00000391878,;TP53BP2,missense_variant,p.Gln363Glu,ENST00000391879,;TP53BP2,missense_variant,p.Gln1130Glu,ENST00000343537,;CAPN2,downstream_gene_variant,,ENST00000433674,;CAPN2,downstream_gene_variant,,ENST00000295006,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;CAPN2,downstream_gene_variant,,ENST00000487223,;CAPN2,downstream_gene_variant,,ENST00000463997,;CAPN2,downstream_gene_variant,,ENST00000474026,;TP53BP2,3_prime_UTR_variant,,ENST00000483398,;	3680	35	76	SUCCESS
BCL2L1	598	.	GRCh37	20	30309743	30309743	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	77	145	0	ENST00000307677.4:c.279A>T	p.Ala93=	p.A93=	ENST00000307677	NM_138578.1	93	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13189.1	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTGCCTC	NONE	.	.	PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF12,hmmpanther:PTHR11256,PROSITE_patterns:PS01259,Gene3D:1.10.437.10,Pfam_domain:PF00452,TIGRFAM_domain:TIGR00865,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01864	.	.	ENSP00000302564	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000307677	Transcript	.	.	ENSG00000171552	992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B2CL1_HUMAN	BCL2L1	HGNC	Q9H1R6_HUMAN,Q5TE64_HUMAN,Q5QP59_HUMAN,Q5QP56_HUMAN	.	UPI0000000CEC	SNV	BCL2L1,synonymous_variant,p.%3D,ENST00000420488,;BCL2L1,synonymous_variant,p.%3D,ENST00000439267,;BCL2L1,synonymous_variant,p.%3D,ENST00000420653,;BCL2L1,synonymous_variant,p.%3D,ENST00000376062,;BCL2L1,synonymous_variant,p.%3D,ENST00000376055,;BCL2L1,synonymous_variant,p.%3D,ENST00000456404,;BCL2L1,synonymous_variant,p.%3D,ENST00000422920,;BCL2L1,synonymous_variant,p.%3D,ENST00000450273,;BCL2L1,synonymous_variant,p.%3D,ENST00000307677,;BCL2L1,downstream_gene_variant,,ENST00000434194,;AL160175.1,downstream_gene_variant,,ENST00000597287,;	690	145	260	SUCCESS
ADNP	23394	.	GRCh37	20	49508566	49508566	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	80	70	0	ENST00000349014.3:c.2685T>G	p.Pro895=	p.P895=	ENST00000349014	NM_001282532.1	895	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13433.1	2685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAGGGTC	NONE	.	.	hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740	.	.	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	SNV	ADNP,synonymous_variant,p.%3D,ENST00000396032,;ADNP,synonymous_variant,p.%3D,ENST00000396029,;ADNP,synonymous_variant,p.%3D,ENST00000349014,;ADNP,synonymous_variant,p.%3D,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	3253	70	151	SUCCESS
ADAMTS1	9510	.	GRCh37	21	28210546	28210546	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	60	0	ENST00000284984.3:c.2256A>G	p.Glu752=	p.E752=	ENST00000284984	NM_006988.3	752	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS33524.1	2256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTTCGAT	NONE	.	.	hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986	.	.	ENSP00000284984	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000284984	Transcript	.	.	ENSG00000154734	217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS1_HUMAN	ADAMTS1	HGNC	E5RI60_HUMAN	.	UPI000013DDC6	SNV	ADAMTS1,synonymous_variant,p.%3D,ENST00000284984,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000492656,;	2711	60	76	SUCCESS
IFNAR1	3454	.	GRCh37	21	34721747	34721747	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	70	0	ENST00000270139.3:c.1041T>C	p.His347=	p.H347=	ENST00000270139	NM_000629.2	347	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS13624.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATATCTA	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF016567,Pfam_domain:PF09294,Gene3D:2.60.40.10,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF45,PROSITE_profiles:PS50853	.	.	ENSP00000270139	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000270139	Transcript	.	.	ENSG00000142166	5432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INAR1_HUMAN	IFNAR1	HGNC	B4DNT3_HUMAN	.	UPI000006FE3C	SNV	IFNAR1,synonymous_variant,p.%3D,ENST00000442357,;IFNAR1,synonymous_variant,p.%3D,ENST00000270139,;IFNAR1,synonymous_variant,p.%3D,ENST00000416947,;IFNAR1,downstream_gene_variant,,ENST00000442071,;	1193	70	89	SUCCESS
APOL3	80833	.	GRCh37	22	36545151	36545151	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	95	0	ENST00000349314.2:c.224-3504A>G		p.*75*	ENST00000349314	NM_145640.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13922.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTCACTG	NONE	.	.	.	.	.	ENSP00000344577	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000349314	Transcript	.	.	ENSG00000128284	14868	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOL3_HUMAN	APOL3	HGNC	.	.	UPI0000141763	SNV	APOL3,5_prime_UTR_variant,,ENST00000397293,;APOL3,intron_variant,,ENST00000397287,;APOL3,intron_variant,,ENST00000349314,;APOL3,intron_variant,,ENST00000424878,;APOL3,intron_variant,,ENST00000361710,;APOL3,non_coding_transcript_exon_variant,,ENST00000534251,;APOL3,non_coding_transcript_exon_variant,,ENST00000525184,;APOL3,non_coding_transcript_exon_variant,,ENST00000485453,;APOL3,intron_variant,,ENST00000487423,;APOL3,missense_variant,p.Asp43Gly,ENST00000426939,;APOL3,missense_variant,p.Asp43Gly,ENST00000531195,;APOL3,missense_variant,p.Asp88Gly,ENST00000397289,;APOL3,3_prime_UTR_variant,,ENST00000472303,;APOL3,3_prime_UTR_variant,,ENST00000432700,;APOL3,3_prime_UTR_variant,,ENST00000422426,;APOL3,3_prime_UTR_variant,,ENST00000530895,;APOL3,3_prime_UTR_variant,,ENST00000487783,;APOL3,3_prime_UTR_variant,,ENST00000487355,;	.	95	136	SUCCESS
NPAS2	4862	.	GRCh37	2	101580582	101580590	+	inframe_deletion	In_Frame_Del	DEL	GGAAAGGAG	GGAAAGGAG	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	GGAAAGGAG	GGAAAGGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	116	0	ENST00000335681.5:c.662_670del	p.Gly221_Glu223del	p.G221_E223del	ENST00000335681	NM_002518.3	221	GGAAAGGAG/-	0	.	.	.	.	.	-	GKE/-	protein_coding	YES	CCDS2048.1	661-669	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACTAGGAAAGGAGGTTTG	NONE	.	.	hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042	.	.	ENSP00000338283	.	8/21	.	.	.	.	.	.	.	.	.	8/21	nonpreferredpair	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	deletion	NPAS2,inframe_deletion,p.Gly221_Glu223del,ENST00000335681,;NPAS2,inframe_deletion,p.Gly286_Glu288del,ENST00000542504,;NPAS2,intron_variant,,ENST00000448812,;NPAS2,non_coding_transcript_exon_variant,,ENST00000486017,;NPAS2,non_coding_transcript_exon_variant,,ENST00000492373,;	946-954	116	82	SUCCESS
DNAH7	56171	.	GRCh37	2	196891544	196891544	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	82	0	ENST00000312428.6:c.607A>G	p.Ile203Val	p.I203V	ENST00000312428	NM_018897.2	203	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42794.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTATGCTGT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	7/65	.	.	.	.	.	.	.	.	.	7/65	nonpreferredpair	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.2)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Ile203Val,ENST00000410072,;DNAH7,missense_variant,p.Ile203Val,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000427816,;	708	82	115	SUCCESS
AGAP1	116987	.	GRCh37	2	237032725	237032725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	158	325	0	ENST00000304032.8:c.2533A>G	p.Asn845Asp	p.N845D	ENST00000304032	NM_001037131.2	845	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS33408.1	2533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATAACCGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000307634	.	18/18	.	.	.	.	.	.	.	.	.	18/18	nonpreferredpair	ENST00000304032	Transcript	.	.	ENSG00000157985	16922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.14)	.	AGAP1_HUMAN	AGAP1	HGNC	Q53S93_HUMAN,Q4ZG54_HUMAN,Q4ZG22_HUMAN,F5GXM9_HUMAN	.	UPI00005E1AE1	SNV	AGAP1,missense_variant,p.Asn845Asp,ENST00000304032,;AGAP1,missense_variant,p.Asn247Asp,ENST00000453371,;AGAP1,missense_variant,p.Asn792Asp,ENST00000336665,;AGAP1,missense_variant,p.Asn684Asp,ENST00000428334,;AGAP1,missense_variant,p.Asn1057Asp,ENST00000409538,;AGAP1,downstream_gene_variant,,ENST00000418654,;AGAP1,downstream_gene_variant,,ENST00000466575,;	3113	325	343	SUCCESS
ZNF638	27332	.	GRCh37	2	71576209	71576209	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	146	260	0	ENST00000264447.4:c.125T>G	p.Phe42Cys	p.F42C	ENST00000264447	NM_001014972.2	42	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS1917.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATTTTACC	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	2/28	.	.	.	.	.	.	.	.	.	2/28	nonpreferredpair	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	tolerated(0.08)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Phe42Cys,ENST00000409544,;ZNF638,missense_variant,p.Phe42Cys,ENST00000437658,;ZNF638,missense_variant,p.Phe42Cys,ENST00000264447,;ZNF638,missense_variant,p.Phe42Cys,ENST00000377802,;ZNF638,missense_variant,p.Phe42Cys,ENST00000455226,;ZNF638,missense_variant,p.Phe42Cys,ENST00000355812,;ZNF638,missense_variant,p.Phe42Cys,ENST00000454278,;ZNF638,downstream_gene_variant,,ENST00000417778,;ZNF638,downstream_gene_variant,,ENST00000454122,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000466975,;ZNF638,intron_variant,,ENST00000464375,;ZNF638,intron_variant,,ENST00000466330,;ZNF638,intron_variant,,ENST00000494621,;ZNF638,intron_variant,,ENST00000475743,;ZNF638,downstream_gene_variant,,ENST00000487707,;	755	260	313	SUCCESS
MFI2-AS1	0	.	GRCh37	3	196731069	196731069	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	20	0	ENST00000415244.1:n.539C>G		p.*180*	ENST00000415244				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3325.1	.	MUTECT|MUSE	.	TGACCCAAAGA	NONE	.	.	.	.	.	ENSP00000296350	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000296350	Transcript	.	.	ENSG00000163975	7037	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRFM_HUMAN	MFI2	HGNC	.	.	UPI000013E329	SNV	MFI2,intron_variant,,ENST00000296350,;MFI2-AS1,non_coding_transcript_exon_variant,,ENST00000415244,;MFI2-AS1,intron_variant,,ENST00000424769,;MFI2-AS1,intron_variant,,ENST00000437064,;MFI2-AS1,intron_variant,,ENST00000414354,;MFI2-AS1,downstream_gene_variant,,ENST00000446695,;MFI2,upstream_gene_variant,,ENST00000469783,;	.	20	47	SUCCESS
ROBO1	6091	.	GRCh37	3	79174651	79174651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	135	276	0	ENST00000464233.1:c.127C>T	p.Pro43Ser	p.P43S	ENST00000464233	NM_002941.3	43	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS54611.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGGCGTCC	NONE	.	.	.	.	.	ENSP00000420321	.	3/31	.	.	.	.	.	.	.	.	.	3/31	nonpreferredpair	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated_low_confidence(0.65)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Pro43Ser,ENST00000464233,;	241	276	306	SUCCESS
WDR17	116966	.	GRCh37	4	177058704	177058704	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200199041	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	23	54	0	ENST00000280190.4:c.1373G>A	p.Arg458Gln	p.R458Q	ENST00000280190		458	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3825.1	1373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGAAATG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	A:0.0001	ENSP00000280190	.	10/31	.	.	.	.	.	.	.	.	rs200199041,COSM3428351	10/31	nonpreferredpair	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.12)	0,1	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Arg441Gln,ENST00000507824,;WDR17,missense_variant,p.Arg207Gln,ENST00000505894,;WDR17,missense_variant,p.Arg458Gln,ENST00000280190,;WDR17,missense_variant,p.Arg434Gln,ENST00000508596,;WDR17,missense_variant,p.Arg434Gln,ENST00000393643,;	1529	54	29	SUCCESS
AGPAT9	0	.	GRCh37	4	84457903	84457903	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs150911365	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	26	48	0	ENST00000264409.4:c.128T>A	p.Val43Glu	p.V43E	ENST00000264409	NM_032717.4	43	gTg/gAg	0	C:0	.	.	.	.	A	V/E	protein_coding	YES	CCDS3606.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGTGAAAA	NONE	byCluster	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF10	.	C:0.0001	ENSP00000378651	.	2/13	.	.	.	.	.	.	.	.	rs150911365	2/13	nonpreferredpair	ENST00000395226	Transcript	.	.	ENSG00000138678	28157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.534)	.	deleterious(0.01)	.	GPAT3_HUMAN	AGPAT9	HGNC	.	.	UPI000004B62F	SNV	AGPAT9,missense_variant,p.Val43Glu,ENST00000395226,;AGPAT9,missense_variant,p.Val43Glu,ENST00000264409,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000506766,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000509412,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000514309,;	346	48	33	SUCCESS
WDFY3	23001	.	GRCh37	4	85724505	85724505	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	154	292	0	ENST00000295888.4:c.2545C>T	p.Pro849Ser	p.P849S	ENST00000295888	NM_014991.4	849	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS3609.1	2545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGATGAA	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	16/68	.	.	.	.	.	.	.	.	.	16/68	nonpreferredpair	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	tolerated(0.32)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Pro849Ser,ENST00000295888,;WDFY3,missense_variant,p.Pro849Ser,ENST00000322366,;WDFY3-AS1,non_coding_transcript_exon_variant,,ENST00000510449,;WDFY3,non_coding_transcript_exon_variant,,ENST00000512267,;WDFY3,non_coding_transcript_exon_variant,,ENST00000505923,;	2953	292	210	SUCCESS
MARCH6	0	.	GRCh37	5	10391780	10391780	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	52	189	0	ENST00000274140.5:c.703G>C	p.Asp235His	p.D235H	ENST00000274140	NM_005885.3	235	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS34135.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGACAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	7/26	.	.	.	.	.	.	.	.	.	7/26	nonpreferredpair	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.13)	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,missense_variant,p.Asp187His,ENST00000449913,;MARCH6,missense_variant,p.Asp235His,ENST00000274140,;MARCH6,missense_variant,p.Asp130His,ENST00000503788,;MARCH6,downstream_gene_variant,,ENST00000507863,;MARCH6,downstream_gene_variant,,ENST00000510872,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,downstream_gene_variant,,ENST00000506131,;MARCH6,downstream_gene_variant,,ENST00000502795,;	835	189	229	SUCCESS
CXXC5	51523	.	GRCh37	5	139060853	139060853	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	81	0	ENST00000302517.3:c.745C>G	p.Leu249Val	p.L249V	ENST00000302517	NM_016463.7	249	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43370.1	745	MUTECT|MUSE	.	GAGAGCTGGCC	NONE	.	.	hmmpanther:PTHR13419:SF2,hmmpanther:PTHR13419	.	.	ENSP00000302543	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000302517	Transcript	.	.	ENSG00000171604	26943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	tolerated(0.07)	.	CXXC5_HUMAN	CXXC5	HGNC	E7EVI8_HUMAN,E7EV55_HUMAN,D6RIR8_HUMAN,D6RHG9_HUMAN,D6RHC6_HUMAN,D6RDY2_HUMAN,D6RCN9_HUMAN,D6RBE0_HUMAN,D6R9V1_HUMAN,D6R966_HUMAN	.	UPI000003779E	SNV	CXXC5,missense_variant,p.Leu249Val,ENST00000302517,;CXXC5,missense_variant,p.Leu249Val,ENST00000511048,;CXXC5,downstream_gene_variant,,ENST00000511457,;CXXC5,downstream_gene_variant,,ENST00000512816,;CXXC5,downstream_gene_variant,,ENST00000509238,;CXXC5,downstream_gene_variant,,ENST00000503511,;CXXC5,downstream_gene_variant,,ENST00000504844,;CXXC5,downstream_gene_variant,,ENST00000504944,;CXXC5,downstream_gene_variant,,ENST00000507139,;CXXC5,downstream_gene_variant,,ENST00000511591,;CXXC5,downstream_gene_variant,,ENST00000502295,;CXXC5,downstream_gene_variant,,ENST00000502336,;CXXC5,downstream_gene_variant,,ENST00000520967,;CXXC5,downstream_gene_variant,,ENST00000502716,;CTB-35F21.1,upstream_gene_variant,,ENST00000515296,;CXXC5,non_coding_transcript_exon_variant,,ENST00000515038,;CXXC5,upstream_gene_variant,,ENST00000505812,;	1459	81	108	SUCCESS
DDX41	51428	.	GRCh37	5	176940709	176940709	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	92	215	0	ENST00000507955.1:c.1075C>A	p.Arg359Ser	p.R359S	ENST00000507955	NM_016222.2	359	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4427.1	1075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACGGATGT	NONE	.	.	Superfamily_domains:SSF52540,Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,PROSITE_profiles:PS51192	.	.	ENSP00000422753	.	10/17	.	.	.	.	.	.	.	.	.	10/17	nonpreferredpair	ENST00000507955	Transcript	.	.	ENSG00000183258	18674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.03)	.	DDX41_HUMAN	DDX41	HGNC	B3KRK2_HUMAN	.	UPI0000125164	SNV	DDX41,missense_variant,p.Arg377Ser,ENST00000330503,;DDX41,missense_variant,p.Arg359Ser,ENST00000507955,;DOK3,upstream_gene_variant,,ENST00000312943,;DOK3,upstream_gene_variant,,ENST00000502885,;DOK3,upstream_gene_variant,,ENST00000510898,;DOK3,upstream_gene_variant,,ENST00000510380,;DOK3,upstream_gene_variant,,ENST00000510389,;DOK3,upstream_gene_variant,,ENST00000377112,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000506493,;DOK3,upstream_gene_variant,,ENST00000501403,;DOK3,upstream_gene_variant,,ENST00000357198,;DDX41,downstream_gene_variant,,ENST00000506965,;DDX41,3_prime_UTR_variant,,ENST00000508279,;DDX41,non_coding_transcript_exon_variant,,ENST00000507900,;DDX41,non_coding_transcript_exon_variant,,ENST00000512027,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000511040,;DDX41,non_coding_transcript_exon_variant,,ENST00000504807,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000513562,;DOK3,upstream_gene_variant,,ENST00000500323,;DDX41,upstream_gene_variant,,ENST00000512334,;DDX41,downstream_gene_variant,,ENST00000509576,;DOK3,upstream_gene_variant,,ENST00000512660,;DDX41,downstream_gene_variant,,ENST00000512431,;DDX41,downstream_gene_variant,,ENST00000510171,;DOK3,upstream_gene_variant,,ENST00000502380,;DDX41,downstream_gene_variant,,ENST00000504781,;DDX41,downstream_gene_variant,,ENST00000515562,;	1599	215	193	SUCCESS
SV2C	22987	.	GRCh37	5	75427868	75427868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	77	128	0	ENST00000502798.2:c.293G>T	p.Ser98Ile	p.S98I	ENST00000502798	NM_014979.1	98	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43331.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGTATGA	NONE	.	.	hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF3,TIGRFAM_domain:TIGR01299	.	.	ENSP00000423541	.	2/13	.	.	.	.	.	.	.	.	.	2/13	nonpreferredpair	ENST00000502798	Transcript	.	.	ENSG00000122012	30670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.05)	.	SV2C_HUMAN	SV2C	HGNC	.	.	UPI000011DDBB	SNV	SV2C,missense_variant,p.Ser98Ile,ENST00000502798,;SV2C,missense_variant,p.Ser98Ile,ENST00000322285,;	735	128	182	SUCCESS
ADCY2	108	.	GRCh37	5	7706898	7706910	+	frameshift_variant	Frame_Shift_Del	DEL	TGGGCGTGCATTC	TGGGCGTGCATTC	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	TGGGCGTGCATTC	TGGGCGTGCATTC	.	.	.	.	.	.	.	.	.	.	.	.	.	162	92	261	0	ENST00000338316.4:c.1155_1167del	p.Val386MetfsTer6	p.V386Mfs*6	ENST00000338316	NM_020546.2	384	gTGGGCGTGCATTCt/gt	0	.	.	.	.	.	-	VGVHS/X	protein_coding	YES	CCDS3872.2	1151-1163	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCGCGTGGGCGTGCATTCTGGGA	CODON|p.G385D|c.1154G>A|3	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,PROSITE_profiles:PS50125	.	.	ENSP00000342952	.	8/25	.	.	.	.	.	.	.	.	.	8/25	nonpreferredpair	ENST00000338316	Transcript	.	.	ENSG00000078295	233	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	deletion	ADCY2,frameshift_variant,p.Val386MetfsTer6,ENST00000338316,;ADCY2,frameshift_variant,p.Val206MetfsTer6,ENST00000537121,;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	1240-1252	261	254	SUCCESS
GOPC	57120	.	GRCh37	6	117923385	117923385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	11	0	ENST00000368498.2:c.67G>A	p.Gly23Arg	p.G23R	ENST00000368498	NM_020399.3	23	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5117.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCCACGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16528	.	.	ENSP00000357484	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000368498	Transcript	.	.	ENSG00000047932	17643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.02)	.	GOPC_HUMAN	GOPC	HGNC	.	.	UPI0000070C27	SNV	GOPC,missense_variant,p.Gly23Arg,ENST00000052569,;GOPC,missense_variant,p.Gly23Arg,ENST00000535237,;GOPC,missense_variant,p.Gly23Arg,ENST00000368498,;	143	11	13	SUCCESS
BCLAF1	9774	.	GRCh37	6	136589436	136589436	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	75	0	ENST00000531224.1:c.2261C>T	p.Ser754Phe	p.S754F	ENST00000531224	NM_001077441.1	754	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS5177.1	2261	RADIA|MUTECT|MUSE	.	CTGAAGAGGAT	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000435210	.	10/13	.	.	.	.	.	.	.	.	.	10/13	nonpreferredpair	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.683)	.	deleterious(0.02)	.	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Ser754Phe,ENST00000527536,;BCLAF1,missense_variant,p.Ser752Phe,ENST00000392348,;BCLAF1,missense_variant,p.Ser752Phe,ENST00000353331,;BCLAF1,missense_variant,p.Ser581Phe,ENST00000530767,;BCLAF1,missense_variant,p.Ser754Phe,ENST00000531224,;BCLAF1,missense_variant,p.Ser752Phe,ENST00000527759,;BCLAF1,5_prime_UTR_variant,,ENST00000031135,;BCLAF1,intron_variant,,ENST00000534762,;BCLAF1,downstream_gene_variant,,ENST00000529826,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Ser9Phe,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;BCLAF1,downstream_gene_variant,,ENST00000534321,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000532076,;BCLAF1,downstream_gene_variant,,ENST00000534792,;	2514	75	91	SUCCESS
KIF25-AS1	100505879	.	GRCh37	6	168396642	168396642	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	22	34	0	ENST00000456585.1:n.1014C>A		p.*338*	ENST00000456585				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5305.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGGCGTCC	NONE	.	3130	.	.	.	ENSP00000388878	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,upstream_gene_variant,,ENST00000443060,;KIF25-AS1,non_coding_transcript_exon_variant,,ENST00000456585,;KIF25-AS1,non_coding_transcript_exon_variant,,ENST00000414364,;KIF25,upstream_gene_variant,,ENST00000515361,;	.	34	24	SUCCESS
OR10C1	442194	.	GRCh37	6	29408254	29408254	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	43	90	0	ENST00000444197.2:c.465del	p.Leu156TrpfsTer89	p.L156Wfs*89	ENST00000444197	NM_013941.3	154	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS34364.1	462	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGTGGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000419119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000444197	Transcript	.	.	ENSG00000206474	8165	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O10C1_HUMAN	OR10C1	HGNC	.	.	UPI000014068E	deletion	OR10C1,frameshift_variant,p.Leu156TrpfsTer89,ENST00000444197,;OR11A1,intron_variant,,ENST00000377149,;	1172	90	186	SUCCESS
PGK2	5232	.	GRCh37	6	49755000	49755000	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	40	100	0	ENST00000304801.3:c.-100G>C		p.*34*	ENST00000304801	NM_138733.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4930.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCCCTTG	NONE	.	.	.	.	.	ENSP00000305995	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000304801	Transcript	.	.	ENSG00000170950	8898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGK2_HUMAN	PGK2	HGNC	.	.	UPI0000001C72	SNV	PGK2,5_prime_UTR_variant,,ENST00000304801,;	54	100	151	SUCCESS
THSD7A	221981	.	GRCh37	7	11633070	11633070	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558393471	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	54	106	0	ENST00000423059.4:c.1082G>A	p.Cys361Tyr	p.C361Y	ENST00000423059	NM_015204.2	361	tGc/tAc	0	.	A:0.0008	.	A:0	.	T	C/Y	protein_coding	YES	CCDS47543.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCACTCT	NONE	by1000G	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Gene3D:2.20.100.10,Superfamily_domains:SSF82895	A:0	.	ENSP00000406482	A:0	3/28	.	.	.	.	.	.	.	.	rs558393471	3/28	nonpreferredpair	ENST00000423059	Transcript	.	A:0.0002	ENSG00000005108	22207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	A:0	deleterious(0.02)	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,missense_variant,p.Cys361Tyr,ENST00000423059,;	1334	106	125	SUCCESS
KDM7A	80853	.	GRCh37	7	139876582	139876582	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	82	0	ENST00000397560.2:c.156G>C	p.Met52Ile	p.M52I	ENST00000397560	NM_030647.1	52	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS43658.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGATCATGAA	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15,PROSITE_patterns:PS01359,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000380692	.	1/20	.	.	.	.	.	.	.	.	.	1/20	nonpreferredpair	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0.04)	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,missense_variant,p.Met52Ile,ENST00000006967,;KDM7A,missense_variant,p.Met52Ile,ENST00000397560,;JHDM1D-AS1,upstream_gene_variant,,ENST00000566699,;	254	82	65	SUCCESS
PKD1L1	168507	.	GRCh37	7	47876604	47876604	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	262	75	304	0	ENST00000289672.2:c.5858A>G	p.His1953Arg	p.H1953R	ENST00000289672	NM_138295.3	1953	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS34633.1	5858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTGCAGG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	37/57	.	.	.	.	.	.	.	.	.	37/57	nonpreferredpair	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.17)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.His1953Arg,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	5909	304	338	SUCCESS
POM121L12	285877	.	GRCh37	7	53103948	53103948	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755281512	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	66	0	ENST00000408890.4:c.584C>G	p.Pro195Arg	p.P195R	ENST00000408890	NM_182595.3	195	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS43584.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCCGTTGT	BUFFER|p.F198F|c.594C>T|6	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25,Pfam_domain:PF15229	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	rs755281512	1/1	nonpreferredpair	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Pro195Arg,ENST00000408890,;	600	66	67	SUCCESS
MLXIPL	51085	.	GRCh37	7	73020062	73020062	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	65	170	0	ENST00000313375.3:c.857T>G	p.Leu286Arg	p.L286R	ENST00000313375	NM_032953.2	286	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5553.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCAGGTCC	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	7/17	.	.	.	.	.	.	.	.	.	7/17	nonpreferredpair	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0.02)	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Leu286Arg,ENST00000313375,;MLXIPL,missense_variant,p.Leu193Arg,ENST00000434326,;MLXIPL,missense_variant,p.Leu193Arg,ENST00000395189,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000429400,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000354613,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000414749,;MLXIPL,intron_variant,,ENST00000453275,;MLXIPL,downstream_gene_variant,,ENST00000456640,;MLXIPL,missense_variant,p.Leu286Arg,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;	905	170	146	SUCCESS
RECQL4	9401	.	GRCh37	8	145741755	145741755	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	21	0	ENST00000428558.2:c.748G>C	p.Gly250Arg	p.G250R	ENST00000428558	NM_004260.3	250	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	.	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCACAC	BUFFER|p.S246S|c.738C>T|4	.	.	.	.	.	ENSP00000475456	.	5/22	.	.	.	.	.	.	.	.	.	5/22	nonpreferredpair	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.18)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Gly91Arg,ENST00000524998,;RECQL4,missense_variant,p.Gly250Arg,ENST00000428558,;LRRC14,upstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000534626,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,downstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,3_prime_UTR_variant,,ENST00000534538,;RECQL4,upstream_gene_variant,,ENST00000301323,;RECQL4,downstream_gene_variant,,ENST00000534270,;LRRC14,upstream_gene_variant,,ENST00000531310,;	790	21	37	SUCCESS
FGF20	26281	.	GRCh37	8	16850701	16850701	+	synonymous_variant	Silent	SNP	G	G	A	rs376980441	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	45	85	0	ENST00000180166.5:c.516C>T	p.Asp172=	p.D172=	ENST00000180166	NM_019851.2	172	gaC/gaT	0	A:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS5998.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCGTCTTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11486:SF72,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353	.	A:0	ENSP00000180166	.	3/3	.	.	.	.	.	.	.	.	rs376980441,COSM2872951	3/3	nonpreferredpair	ENST00000180166	Transcript	1	.	ENSG00000078579	3677	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FGF20_HUMAN	FGF20	HGNC	.	.	UPI00000374AE	SNV	FGF20,synonymous_variant,p.%3D,ENST00000180166,;FGF20,synonymous_variant,p.%3D,ENST00000519941,;	665	85	134	SUCCESS
MYOM2	9172	.	GRCh37	8	2054129	2054129	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	98	143	0	ENST00000262113.4:c.2832T>C	p.Cys944=	p.C944=	ENST00000262113	NM_003970.2	944	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS5957.1	2832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTAAATC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000262113	.	22/37	.	.	.	.	.	.	.	.	.	22/37	nonpreferredpair	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,synonymous_variant,p.%3D,ENST00000523438,;MYOM2,synonymous_variant,p.%3D,ENST00000262113,;MYOM2,non_coding_transcript_exon_variant,,ENST00000517520,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518203,;MYOM2,downstream_gene_variant,,ENST00000519372,;MYOM2,upstream_gene_variant,,ENST00000523443,;	2973	143	161	SUCCESS
CLU	1191	.	GRCh37	8	27472180	27472180	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1055426723	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	195	332	0	ENST00000316403.10:c.-38C>T		p.*13*	ENST00000316403				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47832.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGGCACC	NONE	.	.	.	.	.	ENSP00000315130	.	1/9	.	.	.	.	.	.	.	.	COSM3395256	1/9	nonpreferredpair	ENST00000316403	Transcript	.	.	ENSG00000120885	2095	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CLUS_HUMAN	CLU	HGNC	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN	.	UPI0000127BA6	SNV	CLU,missense_variant,p.Pro40Leu,ENST00000560366,;CLU,5_prime_UTR_variant,,ENST00000316403,;CLU,5_prime_UTR_variant,,ENST00000523589,;CLU,5_prime_UTR_variant,,ENST00000519472,;CLU,5_prime_UTR_variant,,ENST00000522413,;CLU,5_prime_UTR_variant,,ENST00000523396,;CLU,upstream_gene_variant,,ENST00000560566,;CLU,upstream_gene_variant,,ENST00000523500,;CLU,upstream_gene_variant,,ENST00000520796,;CLU,upstream_gene_variant,,ENST00000546343,;CLU,upstream_gene_variant,,ENST00000520491,;CLU,upstream_gene_variant,,ENST00000519742,;CLU,upstream_gene_variant,,ENST00000405140,;CLU,upstream_gene_variant,,ENST00000522238,;CLU,non_coding_transcript_exon_variant,,ENST00000518050,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;	369	332	235	SUCCESS
SPIDR	23514	.	GRCh37	8	48309166	48309166	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	71	0	ENST00000297423.4:c.756A>T	p.Ser252=	p.S252=	ENST00000297423	NM_001080394.2	252	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43737.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAGCAAA	NONE	.	.	Pfam_domain:PF14950	.	.	ENSP00000297423	.	6/20	.	.	.	.	.	.	.	.	COSM605599	6/20	nonpreferredpair	ENST00000297423	Transcript	.	.	ENSG00000164808	28971	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SPIDR_HUMAN	SPIDR	HGNC	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN	.	UPI0000253B92	SNV	SPIDR,synonymous_variant,p.%3D,ENST00000541342,;SPIDR,synonymous_variant,p.%3D,ENST00000297423,;SPIDR,synonymous_variant,p.%3D,ENST00000518074,;SPIDR,intron_variant,,ENST00000524006,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521918,;SPIDR,intron_variant,,ENST00000521550,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000523814,;SPIDR,3_prime_UTR_variant,,ENST00000517824,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;SPIDR,intron_variant,,ENST00000524126,;SPIDR,intron_variant,,ENST00000519661,;SPIDR,intron_variant,,ENST00000524033,;	1140	71	89	SUCCESS
CIZ1	25792	.	GRCh37	9	130941315	130941315	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780756425	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	76	140	0	ENST00000372938.5:c.1171G>A	p.Val391Met	p.V391M	ENST00000372938	NM_001131016.1	391	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS6894.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACCTGCC	NONE	.	.	hmmpanther:PTHR15491:SF9,hmmpanther:PTHR15491	.	.	ENSP00000377232	.	8/17	.	.	.	.	.	.	.	.	rs780756425	8/17	nonpreferredpair	ENST00000393608	Transcript	.	.	ENSG00000148337	16744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated_low_confidence(0.16)	.	CIZ1_HUMAN	CIZ1	HGNC	Q9Y3F8_HUMAN,F6WSM2_HUMAN,F6VD24_HUMAN,B0EXJ7_HUMAN	.	UPI0000141722	SNV	CIZ1,missense_variant,p.Val362Met,ENST00000325721,;CIZ1,missense_variant,p.Val391Met,ENST00000357558,;CIZ1,missense_variant,p.Val313Met,ENST00000415526,;CIZ1,missense_variant,p.Val391Met,ENST00000538431,;CIZ1,missense_variant,p.Val391Met,ENST00000372938,;CIZ1,missense_variant,p.Val391Met,ENST00000277465,;CIZ1,missense_variant,p.Val290Met,ENST00000541172,;CIZ1,missense_variant,p.Val391Met,ENST00000393608,;CIZ1,intron_variant,,ENST00000372948,;CIZ1,intron_variant,,ENST00000372954,;CIZ1,downstream_gene_variant,,ENST00000324544,;CIZ1,intron_variant,,ENST00000476239,;CIZ1,intron_variant,,ENST00000476727,;CIZ1,downstream_gene_variant,,ENST00000498156,;CIZ1,upstream_gene_variant,,ENST00000475471,;CIZ1,downstream_gene_variant,,ENST00000474442,;CIZ1,downstream_gene_variant,,ENST00000467178,;CIZ1,downstream_gene_variant,,ENST00000491954,;CIZ1,downstream_gene_variant,,ENST00000488559,;CIZ1,upstream_gene_variant,,ENST00000471839,;	1374	140	164	SUCCESS
DOCK8	81704	.	GRCh37	9	429834	429834	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	101	1	ENST00000432829.2:c.4402T>C	p.Phe1468Leu	p.F1468L	ENST00000432829	NM_203447.3	1468	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS6440.2	4606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTTCAGT	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Superfamily_domains:SSF48371	.	.	ENSP00000408464	.	36/48	.	.	.	.	.	.	.	.	COSM3907490,COSM3907489	36/48	nonpreferredpair	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.103)	.	tolerated(0.06)	1,1	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Phe1468Leu,ENST00000432829,;DOCK8,missense_variant,p.Phe1536Leu,ENST00000453981,;DOCK8,missense_variant,p.Phe1436Leu,ENST00000469391,;DOCK8,missense_variant,p.Phe1003Leu,ENST00000382329,;DOCK8,downstream_gene_variant,,ENST00000493666,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	4718	102	127	SUCCESS
ATG4A	115201	.	GRCh37	X	107335012	107335012	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	110	0	ENST00000372232.3:c.-45G>T		p.*15*	ENST00000372232	NM_052936.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14538.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCGTAGTC	NONE	.	.	.	.	.	ENSP00000361306	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000372232	Transcript	.	.	ENSG00000101844	16489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG4A_HUMAN	ATG4A	HGNC	.	.	UPI000000DCAF	SNV	ATG4A,5_prime_UTR_variant,,ENST00000372254,;ATG4A,5_prime_UTR_variant,,ENST00000372232,;ATG4A,5_prime_UTR_variant,,ENST00000345734,;ATG4A,5_prime_UTR_variant,,ENST00000457035,;PSMD10,upstream_gene_variant,,ENST00000340200,;PSMD10,upstream_gene_variant,,ENST00000361815,;PSMD10,upstream_gene_variant,,ENST00000372296,;ATG4A,upstream_gene_variant,,ENST00000545696,;PSMD10,upstream_gene_variant,,ENST00000372295,;PSMD10,upstream_gene_variant,,ENST00000217958,;PSMD10,upstream_gene_variant,,ENST00000338548,;ATG4A,upstream_gene_variant,,ENST00000343524,;ATG4A,upstream_gene_variant,,ENST00000372246,;PSMD10,upstream_gene_variant,,ENST00000553388,;	115	110	103	SUCCESS
DMD	1756	.	GRCh37	X	31747756	31747756	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778691311	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	60	179	0	ENST00000357033.4:c.7652C>T	p.Thr2551Met	p.T2551M	ENST00000357033	NM_004007.2	2551	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14233.1	7652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGTAATG	SITE|p.T2551M|c.7652C>T|3,SITE|p.T2547M|c.7640C>T|5,SITE|p.T2547M|c.7640C>T|5,SITE|p.T91M|c.272C>T|5,CODON|p.T1210M|c.3629C>T|4,BUFFER|p.R93*|c.277C>T|4,BUFFER|p.R1212*|c.3634C>T|3,BUFFER|p.R2553*|c.7657C>T|3,BUFFER|p.R2549*|c.7645C>T|4,BUFFER|p.R2549*|c.7645C>T|4	byFrequency	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	52/79	.	.	.	.	.	.	.	.	rs778691311,COSM242513,COSM3357427,COSM242515,COSM302064,COSM242514	52/79	nonpreferredpair	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	possibly_damaging(0.897)	.	.	0,1,1,1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Thr2551Met,ENST00000357033,;DMD,missense_variant,p.Thr247Met,ENST00000358062,;DMD,missense_variant,p.Thr91Met,ENST00000343523,;DMD,missense_variant,p.Thr91Met,ENST00000378707,;DMD,missense_variant,p.Thr91Met,ENST00000474231,;DMD,missense_variant,p.Thr2547Met,ENST00000378677,;DMD,missense_variant,p.Thr91Met,ENST00000359836,;DMD,missense_variant,p.Thr91Met,ENST00000541735,;DMD,downstream_gene_variant,,ENST00000471779,;	7859	179	181	SUCCESS
MAGEE1	57692	.	GRCh37	X	75649900	75649900	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	98	0	ENST00000361470.2:c.1577G>A	p.Arg526His	p.R526H	ENST00000361470	NM_020932.2	526	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14433.1	1577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCGCAACC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736:SF9,hmmpanther:PTHR11736,PROSITE_profiles:PS50838	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0.04)	.	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,missense_variant,p.Arg526His,ENST00000361470,;	1855	99	95	SUCCESS
SEC31B	25956	.	GRCh37	10	102265220	102265221	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	50	0	ENST00000370345.3:c.1076dup	p.Pro361ThrfsTer25	p.P361Tfs*25	ENST00000370345	NM_015490.3	359	ctc/ctTc	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS7495.1	1076-1077	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGGAGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	.	.	ENSP00000359370	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	insertion	SEC31B,frameshift_variant,p.Pro361ThrfsTer25,ENST00000370345,;SEC31B,frameshift_variant,p.Pro361ThrfsTer25,ENST00000451524,;SEC31B,downstream_gene_variant,,ENST00000370329,;NDUFB8,downstream_gene_variant,,ENST00000531258,;SEC31B,downstream_gene_variant,,ENST00000535773,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000490567,;SEC31B,non_coding_transcript_exon_variant,,ENST00000484848,;NDUFB8,downstream_gene_variant,,ENST00000527595,;NDUFB8,downstream_gene_variant,,ENST00000557395,;NDUFB8,downstream_gene_variant,,ENST00000529568,;SEC31B,downstream_gene_variant,,ENST00000480905,;	1174-1175	50	105	SUCCESS
WDFY4	57705	.	GRCh37	10	50022050	50022050	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	27	0	ENST00000325239.5:c.5263G>A	p.Glu1755Lys	p.E1755K	ENST00000325239	NM_020945.1	1755	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44385.1	5263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAAGAA	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	30/61	.	.	.	.	.	.	.	.	.	30/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.26)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Glu1755Lys,ENST00000325239,;WDFY4,missense_variant,p.Glu302Lys,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;	5290	27	58	SUCCESS
ABTB2	25841	.	GRCh37	11	34189528	34189528	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	78	0	ENST00000435224.2:c.1575A>C	p.Pro525=	p.P525=	ENST00000435224	NM_145804.2	525	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7890.2	1575	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTGGCGT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000410157	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000435224	Transcript	.	.	ENSG00000166016	23842	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABTB2_HUMAN	ABTB2	HGNC	.	.	UPI0001DD21BB	SNV	ABTB2,synonymous_variant,p.%3D,ENST00000435224,;ABTB2,synonymous_variant,p.%3D,ENST00000298992,;	2000	78	108	SUCCESS
LRP4	4038	.	GRCh37	11	46921839	46921839	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766174802	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	67	108	0	ENST00000378623.1:c.290A>T	p.Glu97Val	p.E97V	ENST00000378623	NM_002334.3	97	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS31478.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTCACAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000367888	.	3/38	.	.	.	.	.	.	.	.	rs766174802	3/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.09)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Glu48Val,ENST00000534404,;LRP4,missense_variant,p.Glu97Val,ENST00000378623,;	533	108	169	SUCCESS
MYRF	745	.	GRCh37	11	61547742	61547742	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	64	226	0	ENST00000278836.5:c.2385G>C	p.Glu795Asp	p.E795D	ENST00000278836	NM_001127392.1	795	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44622.1	2385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGACCT	NONE	.	.	hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16	.	.	ENSP00000278836	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000278836	Transcript	.	.	ENSG00000124920	1181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.35)	.	MRF_HUMAN	MYRF	HGNC	.	.	UPI0000D45F7B	SNV	MYRF,missense_variant,p.Glu795Asp,ENST00000278836,;MYRF,missense_variant,p.Glu186Asp,ENST00000389602,;MYRF,missense_variant,p.Glu786Asp,ENST00000265460,;MYRF,missense_variant,p.Gly478Arg,ENST00000327797,;TMEM258,intron_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000536352,;MYRF,non_coding_transcript_exon_variant,,ENST00000546247,;MYRF,non_coding_transcript_exon_variant,,ENST00000537318,;MYRF,upstream_gene_variant,,ENST00000539361,;	2481	226	352	SUCCESS
ACY3	91703	.	GRCh37	11	67413176	67413176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	77	103	1	ENST00000255082.3:c.419G>A	p.Cys140Tyr	p.C140Y	ENST00000255082	NM_080658.1	140	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS8175.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCACAGG	NONE	.	.	HAMAP:MF_00704,hmmpanther:PTHR15162:SF1,hmmpanther:PTHR15162,Gene3D:3.40.630.10,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,Superfamily_domains:SSF53187	.	.	ENSP00000255082	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000255082	Transcript	.	.	ENSG00000132744	24104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	tolerated(0.42)	.	ACY3_HUMAN	ACY3	HGNC	E9PRA7_HUMAN	.	UPI0000073C5C	SNV	ACY3,missense_variant,p.Cys19Tyr,ENST00000529256,;ACY3,missense_variant,p.Cys140Tyr,ENST00000255082,;	590	104	157	SUCCESS
CREBZF	58487	.	GRCh37	11	85376128	85376128	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	41	0	ENST00000490820.2:c.-209C>T		p.*70*	ENST00000490820				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41697.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGCGATG	NONE	.	.	.	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	SNV	CREBZF,5_prime_UTR_variant,,ENST00000527447,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,upstream_gene_variant,,ENST00000398294,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,5_prime_UTR_variant,,ENST00000525639,;CREBZF,5_prime_UTR_variant,,ENST00000490820,;CREBZF,upstream_gene_variant,,ENST00000260058,;CREBZF,upstream_gene_variant,,ENST00000528889,;CREBZF,upstream_gene_variant,,ENST00000527529,;CREBZF,upstream_gene_variant,,ENST00000528561,;	19	41	82	SUCCESS
CRY1	1407	.	GRCh37	12	107393336	107393336	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	86	0	ENST00000008527.5:c.1130G>C	p.Gly377Ala	p.G377A	ENST00000008527	NM_004075.4	377	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS9112.1	1130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTCCTTCT	NONE	.	.	Superfamily_domains:SSF48173,Gene3D:1owlA03,Pfam_domain:PF03441,hmmpanther:PTHR11455:SF16,hmmpanther:PTHR11455	.	.	ENSP00000008527	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000008527	Transcript	.	.	ENSG00000008405	2384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CRY1_HUMAN	CRY1	HGNC	H0YHT0_HUMAN,A2I2P0_HUMAN	.	UPI0000073E80	SNV	CRY1,missense_variant,p.Gly377Ala,ENST00000008527,;CRY1,upstream_gene_variant,,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;CRY1,downstream_gene_variant,,ENST00000546722,;	1998	86	76	SUCCESS
HECTD4	283450	.	GRCh37	12	112601506	112601506	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs564542020	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	64	0	ENST00000550722.1:c.12299G>A	p.Arg4100Gln	p.R4100Q	ENST00000550722	NM_001109662.3	4100	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	.	12299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCGGATG	NONE	by1000G	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	T:0	.	ENSP00000449784	T:0	74/76	.	.	.	.	.	.	.	.	rs564542020	74/76	PASS	ENST00000550722	Transcript	.	T:0.0002	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	T:0	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Arg3824Gln,ENST00000430131,;HECTD4,missense_variant,p.Arg4100Gln,ENST00000550722,;HECTD4,missense_variant,p.Arg4074Gln,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000549141,;HECTD4,upstream_gene_variant,,ENST00000549306,;HECTD4,non_coding_transcript_exon_variant,,ENST00000547085,;HECTD4,downstream_gene_variant,,ENST00000548140,;	12695	64	58	SUCCESS
KRT79	338785	.	GRCh37	12	53216820	53216820	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	53	0	ENST00000330553.5:c.1347T>C	p.Leu449=	p.L449=	ENST00000330553	NM_175834.2	449	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8839.1	1347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAAGCTT	NONE	.	.	Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,PROSITE_patterns:PS00226,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138	.	.	ENSP00000328358	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,synonymous_variant,p.%3D,ENST00000549255,;KRT79,synonymous_variant,p.%3D,ENST00000330553,;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,;	1382	53	64	SUCCESS
DPY19L2	283417	.	GRCh37	12	63977667	63977667	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	16	124	0	ENST00000324472.4:c.1581-51C>G		p.*527*	ENST00000324472	NM_173812.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31851.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATGAATAC	NONE	.	.	.	.	.	ENSP00000315988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324472	Transcript	.	.	ENSG00000177990	19414	.	.	MODIFIER	16/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	D19L2_HUMAN	DPY19L2	HGNC	F5H4G6_HUMAN,F5H1L7_HUMAN,B4E191_HUMAN	.	UPI000006EC0C	SNV	DPY19L2,5_prime_UTR_variant,,ENST00000413230,;DPY19L2,intron_variant,,ENST00000324472,;DPY19L2,intron_variant,,ENST00000439061,;	.	124	80	SUCCESS
SLC10A2	6555	.	GRCh37	13	103705045	103705045	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	78	0	ENST00000245312.3:c.510T>A	p.Val170=	p.V170=	ENST00000245312	NM_000452.2	170	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9506.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAACCAG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19	.	.	ENSP00000245312	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000245312	Transcript	.	.	ENSG00000125255	10906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTCP2_HUMAN	SLC10A2	HGNC	.	.	UPI000013CB9B	SNV	SLC10A2,synonymous_variant,p.%3D,ENST00000245312,;	1107	78	85	SUCCESS
CLN5	1203	.	GRCh37	13	77566254	77566254	+	synonymous_variant	Silent	SNP	G	G	C	rs1057521258	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	22	0	ENST00000377453.3:c.168G>C	p.Thr56=	p.T56=	ENST00000377453	NM_006493.2	56	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS9456.1	168	RADIA|MUTECT|MUSE|VARSCANS	.	GACACGGCACA	NONE	.	.	.	.	.	ENSP00000366673	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377453	Transcript	.	.	ENSG00000102805	2076	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLN5_HUMAN	CLN5	HGNC	B4E1V6_HUMAN	.	UPI0000127AD8	SNV	CLN5,synonymous_variant,p.%3D,ENST00000377453,;CLN5,non_coding_transcript_exon_variant,,ENST00000485938,;FBXL3,downstream_gene_variant,,ENST00000485797,;DHX9P1,downstream_gene_variant,,ENST00000436565,;	1460	22	29	SUCCESS
BAZ1A	11177	.	GRCh37	14	35255190	35255190	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	28	0	ENST00000360310.1:c.1624T>C	p.Leu542=	p.L542=	ENST00000360310	NM_013448.2	542	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS9651.1	1624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAACTTT	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145	.	.	ENSP00000353458	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000360310	Transcript	.	.	ENSG00000198604	960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAZ1A_HUMAN	BAZ1A	HGNC	D3DS96_HUMAN	.	UPI00001584D3	SNV	BAZ1A,synonymous_variant,p.%3D,ENST00000358716,;BAZ1A,synonymous_variant,p.%3D,ENST00000360310,;BAZ1A,synonymous_variant,p.%3D,ENST00000382422,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000553385,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000555273,;BAZ1A,upstream_gene_variant,,ENST00000556314,;	2192	28	15	SUCCESS
TLN2	83660	.	GRCh37	15	63029258	63029258	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	51	129	0	ENST00000306829.6:c.3540T>G	p.Asp1180Glu	p.D1180E	ENST00000306829	NM_015059.2	1180	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS32261.1	3540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATGCAGA	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1r0dB00,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	28/58	.	.	.	.	.	.	.	.	.	28/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.05)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Asp94Glu,ENST00000494733,;TLN2,missense_variant,p.Asp1180Glu,ENST00000561311,;TLN2,missense_variant,p.Asp1180Glu,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000559908,;TLN2,upstream_gene_variant,,ENST00000489129,;	3770	129	255	SUCCESS
ALPK3	57538	.	GRCh37	15	85400702	85400702	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	48	80	0	ENST00000258888.5:c.3339A>C	p.Thr1113=	p.T1113=	ENST00000258888	NM_020778.4	1113	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10333.1	3339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACACTGCA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21	.	.	ENSP00000258888	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000258888	Transcript	.	.	ENSG00000136383	17574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALPK3_HUMAN	ALPK3	HGNC	.	.	UPI000013D013	SNV	ALPK3,synonymous_variant,p.%3D,ENST00000258888,;SNORA25,upstream_gene_variant,,ENST00000364121,;	3506	80	91	SUCCESS
UMOD	7369	.	GRCh37	16	20344665	20344665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	372	11	306	0	ENST00000302509.4:c.1894T>A	p.Ser632Thr	p.S632T	ENST00000302509		632	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS10583.1	1894	MUTECT|MUSE	.	GGCCGAGAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF12	.	.	ENSP00000460548	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000570689	Transcript	.	.	ENSG00000169344	12559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(1)	.	UROM_HUMAN	UMOD	HGNC	Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN	.	UPI0000137E1A	SNV	UMOD,missense_variant,p.Ser632Thr,ENST00000570689,;UMOD,missense_variant,p.Ser632Thr,ENST00000396142,;UMOD,missense_variant,p.Ser665Thr,ENST00000396134,;UMOD,missense_variant,p.Ser632Thr,ENST00000302509,;UMOD,missense_variant,p.Ser665Thr,ENST00000424589,;UMOD,missense_variant,p.Ser681Thr,ENST00000396138,;UMOD,non_coding_transcript_exon_variant,,ENST00000570331,;	2041	306	383	SUCCESS
GFOD2	81577	.	GRCh37	16	67709857	67709857	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	40	120	0	ENST00000268797.7:c.359T>C	p.Val120Ala	p.V120A	ENST00000268797	NM_030819.3	120	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10845.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTACCAGG	NONE	.	.	hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF90,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000268797	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000268797	Transcript	.	.	ENSG00000141098	28159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.03)	.	GFOD2_HUMAN	GFOD2	HGNC	.	.	UPI000013D7DD	SNV	GFOD2,missense_variant,p.Val120Ala,ENST00000268797,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602627,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602377,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602522,;GFOD2,downstream_gene_variant,,ENST00000602496,;GFOD2,downstream_gene_variant,,ENST00000602279,;	705	120	137	SUCCESS
MED13	9969	.	GRCh37	17	60064481	60064481	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745497498	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	49	122	0	ENST00000397786.2:c.2272C>T	p.Arg758Cys	p.R758C	ENST00000397786	NM_005121.2	758	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42366.1	2272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGTGGAG	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950	.	.	ENSP00000380888	.	12/30	.	.	.	.	.	.	.	.	rs745497498	12/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.08)	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Arg758Cys,ENST00000397786,;	2349	122	175	SUCCESS
FASN	2194	.	GRCh37	17	80040554	80040554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	53	63	1	ENST00000306749.2:c.5768G>A	p.Gly1923Asp	p.G1923D	ENST00000306749	NM_004104.4	1923	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11801.1	5768	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTAGCCTGCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF08659,Gene3D:3.40.50.720,SMART_domains:SM00822,Superfamily_domains:SSF51735	.	.	ENSP00000304592	.	34/43	.	.	.	.	.	.	.	.	.	34/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Gly1923Asp,ENST00000306749,;FASN,splice_region_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5987	65	107	SUCCESS
KIAA1328	57536	.	GRCh37	18	34647263	34647263	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	16	180	0	ENST00000280020.5:c.987G>C	p.Lys329Asn	p.K329N	ENST00000280020	NM_020776.1	329	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS45855.1	987	MUTECT|MUSE	.	CCTAAGACACA	NONE	.	.	Pfam_domain:PF15369	.	.	ENSP00000280020	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000280020	Transcript	.	.	ENSG00000150477	29248	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.168)	.	tolerated(0.25)	.	K1328_HUMAN	KIAA1328	HGNC	.	.	UPI00001C1FF0	SNV	KIAA1328,missense_variant,p.Lys221Asn,ENST00000543923,;KIAA1328,missense_variant,p.Lys45Asn,ENST00000435985,;KIAA1328,missense_variant,p.Lys317Asn,ENST00000587139,;KIAA1328,missense_variant,p.Lys325Asn,ENST00000591619,;KIAA1328,missense_variant,p.Lys329Asn,ENST00000280020,;KIAA1328,missense_variant,p.Lys45Asn,ENST00000586135,;KIAA1328,missense_variant,p.Lys45Asn,ENST00000586501,;KIAA1328,downstream_gene_variant,,ENST00000591911,;KIAA1328,upstream_gene_variant,,ENST00000599493,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;	1009	180	208	SUCCESS
PTPRM	5797	.	GRCh37	18	8247842	8247842	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs762305091	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	52	1	ENST00000332175.8:c.2453-1G>T		p.X818_splice	ENST00000332175	NM_002845.3	818		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58613.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TTACAGCTGTG	NONE	.	.	.	.	.	ENSP00000463325	.	.	.	.	.	.	.	.	.	.	rs762305091	.	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	HIGH	15/32	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,splice_acceptor_variant,,ENST00000332175,;PTPRM,splice_acceptor_variant,,ENST00000400060,;PTPRM,splice_acceptor_variant,,ENST00000444013,;PTPRM,splice_acceptor_variant,,ENST00000400053,;PTPRM,splice_acceptor_variant,,ENST00000577468,;PTPRM,splice_acceptor_variant,,ENST00000580170,;PTPRM,splice_acceptor_variant,,ENST00000578093,;PTPRM,upstream_gene_variant,,ENST00000580838,;PTPRM,splice_acceptor_variant,,ENST00000577827,;	.	53	59	SUCCESS
UNC13A	23025	.	GRCh37	19	17720864	17720864	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	68	111	0	ENST00000519716.2:c.4696C>T	p.Arg1566Trp	p.R1566W	ENST00000519716	NM_001080421.2	1566	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS46013.2	4696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGGAAGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10480,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000429562	.	43/44	.	.	.	.	.	.	.	.	.	43/44	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,missense_variant,p.Arg1566Trp,ENST00000252773,;UNC13A,missense_variant,p.Arg1566Trp,ENST00000519716,;UNC13A,missense_variant,p.Arg1560Trp,ENST00000552293,;UNC13A,missense_variant,p.Arg1539Trp,ENST00000550896,;UNC13A,missense_variant,p.Arg1585Trp,ENST00000551649,;UNC13A,missense_variant,p.Arg1654Trp,ENST00000428389,;CTD-3149D2.3,upstream_gene_variant,,ENST00000600512,;UNC13A,non_coding_transcript_exon_variant,,ENST00000523229,;UNC13A,non_coding_transcript_exon_variant,,ENST00000517497,;	4696	111	185	SUCCESS
TIMM13	26517	.	GRCh37	19	2427289	2427289	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	36	0	ENST00000215570.3:c.154G>A	p.Gly52Arg	p.G52R	ENST00000215570	NM_012458.3	52	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12089.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCTATAC	NONE	.	.	hmmpanther:PTHR19338,Gene3D:1.10.287.810,Pfam_domain:PF02953,Superfamily_domains:SSF144122	.	.	ENSP00000215570	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000215570	Transcript	.	.	ENSG00000099800	11816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.419)	.	tolerated(0.36)	.	TIM13_HUMAN	TIMM13	HGNC	.	.	UPI000012D06F	SNV	TIMM13,missense_variant,p.Gly52Arg,ENST00000215570,;TIMM13,missense_variant,p.Gly37Arg,ENST00000591871,;TMPRSS9,downstream_gene_variant,,ENST00000332578,;LMNB2,downstream_gene_variant,,ENST00000582871,;LMNB2,downstream_gene_variant,,ENST00000325327,;LMNB2,downstream_gene_variant,,ENST00000532465,;LMNB2,downstream_gene_variant,,ENST00000475819,;	515	36	62	SUCCESS
PLEKHG2	64857	.	GRCh37	19	39914693	39914693	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	76	123	0	ENST00000425673.1:c.2833G>A	p.Asp945Asn	p.D945N	ENST00000425673		945	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33022.2	2920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGATCAA	NONE	.	.	.	.	.	ENSP00000386733	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000409794	Transcript	.	.	ENSG00000090924	29515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.282)	.	deleterious_low_confidence(0)	.	PKHG2_HUMAN	PLEKHG2	HGNC	.	.	UPI00001C2028	SNV	PLEKHG2,missense_variant,p.Asp842Asn,ENST00000205135,;PLEKHG2,missense_variant,p.Asp945Asn,ENST00000425673,;PLEKHG2,missense_variant,p.Asp915Asn,ENST00000458508,;PLEKHG2,missense_variant,p.Asp974Asn,ENST00000409794,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,intron_variant,,ENST00000378550,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000600210,;PLEKHG2,upstream_gene_variant,,ENST00000598238,;PLEKHG2,upstream_gene_variant,,ENST00000594161,;PLEKHG2,upstream_gene_variant,,ENST00000594124,;PLEKHG2,upstream_gene_variant,,ENST00000596339,;CTB-60E11.4,upstream_gene_variant,,ENST00000601124,;PLEKHG2,downstream_gene_variant,,ENST00000594307,;PLEKHG2,downstream_gene_variant,,ENST00000474449,;PLEKHG2,downstream_gene_variant,,ENST00000478523,;	3770	123	154	SUCCESS
DRAXIN	374946	.	GRCh37	1	11771928	11771928	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763504108	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	101	0	ENST00000294485.5:c.663C>A	p.Asp221Glu	p.D221E	ENST00000294485	NM_198545.3	221	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS135.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACGGGGA	NONE	byFrequency	.	Pfam_domain:PF15550	.	.	ENSP00000294485	.	4/7	.	.	.	.	.	.	.	.	rs763504108	4/7	PASS	ENST00000294485	Transcript	.	.	ENSG00000162490	25054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.37)	.	DRAXI_HUMAN	DRAXIN	HGNC	.	.	UPI000013E16C	SNV	DRAXIN,missense_variant,p.Asp221Glu,ENST00000294485,;	798	101	113	SUCCESS
GDAP2	54834	.	GRCh37	1	118455267	118455267	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	54	90	0	ENST00000369443.5:c.355A>T	p.Asn119Tyr	p.N119Y	ENST00000369443	NM_017686.3	119	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS897.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATTGAATC	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF59,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000358451	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000369443	Transcript	.	.	ENSG00000196505	18010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.01)	.	GDAP2_HUMAN	GDAP2	HGNC	.	.	UPI0000071019	SNV	GDAP2,missense_variant,p.Asn119Tyr,ENST00000369442,;GDAP2,missense_variant,p.Asn119Tyr,ENST00000369443,;GDAP2,non_coding_transcript_exon_variant,,ENST00000494224,;GDAP2,non_coding_transcript_exon_variant,,ENST00000493555,;	605	90	111	SUCCESS
GDAP2	54834	.	GRCh37	1	118455268	118455268	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	55	89	0	ENST00000369443.5:c.354C>A	p.Phe118Leu	p.F118L	ENST00000369443	NM_017686.3	118	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS897.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGAATCC	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF59,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000358451	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000369443	Transcript	.	.	ENSG00000196505	18010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.441)	.	deleterious(0.03)	.	GDAP2_HUMAN	GDAP2	HGNC	.	.	UPI0000071019	SNV	GDAP2,missense_variant,p.Phe118Leu,ENST00000369442,;GDAP2,missense_variant,p.Phe118Leu,ENST00000369443,;GDAP2,non_coding_transcript_exon_variant,,ENST00000494224,;GDAP2,non_coding_transcript_exon_variant,,ENST00000493555,;	604	89	113	SUCCESS
FHAD1	114827	.	GRCh37	1	15639652	15639652	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	301	50	309	0	ENST00000358897.4:c.1139A>G	p.Lys380Arg	p.K380R	ENST00000358897	NM_052929.1	380	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	.	257	RADIA|MUTECT|MUSE|VARSCANS	.	GGACAAGGACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853	.	.	ENSP00000365163	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	tolerated(0.45)	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	SNV	FHAD1,missense_variant,p.Lys95Arg,ENST00000375997,;FHAD1,missense_variant,p.Lys86Arg,ENST00000401090,;FHAD1,missense_variant,p.Lys380Arg,ENST00000417793,;FHAD1,missense_variant,p.Lys380Arg,ENST00000358897,;FHAD1,missense_variant,p.Lys86Arg,ENST00000375995,;FHAD1,missense_variant,p.Lys380Arg,ENST00000375998,;FHAD1,missense_variant,p.Lys380Arg,ENST00000375999,;FHAD1,intron_variant,,ENST00000524761,;FHAD1,non_coding_transcript_exon_variant,,ENST00000483694,;FHAD1,non_coding_transcript_exon_variant,,ENST00000375996,;	264	309	351	SUCCESS
OR6N2	81442	.	GRCh37	1	158747387	158747387	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	311	122	273	0	ENST00000339258.1:c.39G>T	p.Val13=	p.V13=	ENST00000339258	NM_001005278.1	13	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30906.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACACAAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF68,hmmpanther:PTHR26451	.	.	ENSP00000344101	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000339258	Transcript	.	.	ENSG00000188340	15035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6N2_HUMAN	OR6N2	HGNC	.	.	UPI0000041C8E	SNV	OR6N2,synonymous_variant,p.%3D,ENST00000339258,;	39	273	433	SUCCESS
ATP2B4	493	.	GRCh37	1	203702358	203702358	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	21	67	0	ENST00000357681.5:c.3309+5659T>C		p.*1103*	ENST00000357681	NM_001684.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1440.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGACGTAATTA	NONE	.	.	.	.	.	ENSP00000350310	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODIFIER	20/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Val1106Ala,ENST00000341360,;ATP2B4,missense_variant,p.Val71Ala,ENST00000356729,;ATP2B4,missense_variant,p.Val1106Ala,ENST00000367218,;ATP2B4,missense_variant,p.Val1070Ala,ENST00000391954,;ATP2B4,missense_variant,p.Val1094Ala,ENST00000367219,;ATP2B4,intron_variant,,ENST00000357681,;ATP2B4,downstream_gene_variant,,ENST00000458092,;SNORA77,downstream_gene_variant,,ENST00000408716,;ATP2B4,missense_variant,p.Val38Ala,ENST00000484746,;	.	67	132	SUCCESS
RCOR3	55758	.	GRCh37	1	211486854	211486854	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	62	88	0	ENST00000367005.4:c.1232T>A	p.Leu411Gln	p.L411Q	ENST00000367005	NM_018254.3	411	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44312.1	1406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTGAACC	NONE	.	.	hmmpanther:PTHR16089	.	.	ENSP00000413929	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.748)	.	tolerated(0.09)	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,missense_variant,p.Leu187Gln,ENST00000529763,;RCOR3,missense_variant,p.Leu469Gln,ENST00000419091,;RCOR3,missense_variant,p.Leu411Gln,ENST00000367005,;RCOR3,synonymous_variant,p.%3D,ENST00000367006,;RCOR3,downstream_gene_variant,,ENST00000534460,;RCOR3,downstream_gene_variant,,ENST00000452621,;RCOR3,non_coding_transcript_exon_variant,,ENST00000526255,;RCOR3,non_coding_transcript_exon_variant,,ENST00000486666,;RCOR3,downstream_gene_variant,,ENST00000485186,;RCOR3,downstream_gene_variant,,ENST00000528066,;RCOR3,downstream_gene_variant,,ENST00000528926,;	1534	88	181	SUCCESS
ZBTB18	10472	.	GRCh37	1	244218375	244218375	+	synonymous_variant	Silent	SNP	C	C	A	rs375286592	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	258	225	188	0	ENST00000358704.4:c.1299C>A	p.Thr433=	p.T433=	ENST00000358704	NM_205768.2	433	acC/acA	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS1622.1	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACCCTCAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	A:0.0002	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	rs375286592	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,synonymous_variant,p.%3D,ENST00000358704,;	1448	188	483	SUCCESS
BPIFB2	80341	.	GRCh37	20	31600638	31600638	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750355484	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	213	31	115	0	ENST00000170150.3:c.233G>A	p.Arg78His	p.R78H	ENST00000170150	NM_025227.2	78	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS13210.1	233	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCCTCC	NONE	.	.	Superfamily_domains:SSF55394,Pfam_domain:PF01273,hmmpanther:PTHR10504:SF68,hmmpanther:PTHR10504	.	.	ENSP00000170150	.	4/16	.	.	.	.	.	.	.	.	rs750355484	4/16	PASS	ENST00000170150	Transcript	.	.	ENSG00000078898	16177	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(1)	.	BPIB2_HUMAN	BPIFB2	HGNC	.	.	UPI00000377B0	SNV	BPIFB2,missense_variant,p.Arg78His,ENST00000170150,;	428	115	244	SUCCESS
LAMA5	3911	.	GRCh37	20	60893664	60893664	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	22	116	0	ENST00000252999.3:c.7085A>C	p.Glu2362Ala	p.E2362A	ENST00000252999	NM_005560.4	2362	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS33502.1	7085	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTCCTCC	NONE	.	.	hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Pfam_domain:PF06008	.	.	ENSP00000252999	.	53/80	.	.	.	.	.	.	.	.	.	53/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Glu2362Ala,ENST00000252999,;LAMA5,non_coding_transcript_exon_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000471042,;LAMA5,upstream_gene_variant,,ENST00000370691,;	7152	116	219	SUCCESS
ZNRF3	84133	.	GRCh37	22	29440871	29440871	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372884606	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	42	95	0	ENST00000544604.2:c.737G>A	p.Arg246His	p.R246H	ENST00000544604	NM_001206998.1	246	cGc/cAc	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS56225.1	737	RADIA|MUTECT|MUSE	.	GCGACGCAGTC	BUFFER|p.R145*|c.433C>T|4	byCluster	.	hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200	.	A:0	ENSP00000443824	.	5/9	.	.	.	.	.	.	.	.	rs372884606	5/9	PASS	ENST00000544604	Transcript	.	.	ENSG00000183579	18126	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.15)	.	ZNRF3_HUMAN	ZNRF3	HGNC	.	.	UPI0000EE5944	SNV	ZNRF3,missense_variant,p.Arg146His,ENST00000406323,;ZNRF3,missense_variant,p.Arg146His,ENST00000332811,;ZNRF3,missense_variant,p.Arg146His,ENST00000402174,;ZNRF3,missense_variant,p.Arg246His,ENST00000544604,;	912	95	147	SUCCESS
AMER3	205147	.	GRCh37	2	131522049	131522049	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140869723	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	25	96	1	ENST00000321420.4:c.2404C>T	p.Arg802Trp	p.R802W	ENST00000321420		802	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS2164.1	2404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGGTGG	NONE	byCluster	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	.	T:0.0001	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	rs140869723	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,missense_variant,p.Arg802Trp,ENST00000321420,;AMER3,missense_variant,p.Arg802Trp,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	2514	97	112	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098809	178098809	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1057519923	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	44	0	ENST00000397062.3:c.236A>T	p.Glu79Val	p.E79V	ENST00000397062	NM_006164.4	79	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS42782.1	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTCTTCA	BUFFER|p.E82D|c.246A>C|3,BUFFER|p.E82D|c.246A>T|6,BUFFER|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81D|c.242G>A|6,BUFFER|p.G81V|c.242G>T|7,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11,BUFFER|p.D77V|c.230A>T|5,BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM1529470,COSM132960	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Glu63Val,ENST00000449627,;NFE2L2,missense_variant,p.Glu63Val,ENST00000423513,;NFE2L2,missense_variant,p.Glu79Val,ENST00000397062,;NFE2L2,missense_variant,p.Glu63Val,ENST00000446151,;NFE2L2,missense_variant,p.Glu63Val,ENST00000588123,;NFE2L2,missense_variant,p.Glu78Val,ENST00000586532,;NFE2L2,missense_variant,p.Glu63Val,ENST00000421929,;NFE2L2,missense_variant,p.Glu63Val,ENST00000464747,;NFE2L2,missense_variant,p.Glu63Val,ENST00000448782,;NFE2L2,missense_variant,p.Glu63Val,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	791	44	58	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098810	178098810	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	46	0	ENST00000397062.3:c.235G>T	p.Glu79Ter	p.E79*	ENST00000397062	NM_006164.4	79	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42782.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCTTCAT	BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132851,COSM120958,COSM1631472	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,stop_gained,p.Glu63Ter,ENST00000449627,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000423513,;NFE2L2,stop_gained,p.Glu79Ter,ENST00000397062,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000446151,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000588123,;NFE2L2,stop_gained,p.Glu78Ter,ENST00000586532,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000421929,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000464747,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000448782,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	790	46	58	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209217426	209217426	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	47	0	ENST00000264380.4:c.5765del	p.Lys1922ArgfsTer11	p.K1922Rfs*11	ENST00000264380	NM_015040.3	1922	Aag/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS2382.1	5764	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTATAAGAAC	NONE	.	.	Superfamily_domains:SSF56104,SMART_domains:SM00330,Pfam_domain:PF01504,Gene3D:2gk9B01,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353,PROSITE_profiles:PS51455	.	.	ENSP00000264380	.	39/42	.	.	.	.	.	.	.	.	.	39/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	deletion	PIKFYVE,frameshift_variant,p.Lys1922ArgfsTer11,ENST00000264380,;	5922	47	54	SUCCESS
SPEG	10290	.	GRCh37	2	220342149	220342149	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	96	0	ENST00000312358.7:c.4711G>T	p.Glu1571Ter	p.E1571*	ENST00000312358	NM_005876.4	1571	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42824.1	4711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGAGTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,stop_gained,p.Glu1571Ter,ENST00000312358,;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000485069,;	4843	96	111	SUCCESS
DOCK10	55619	.	GRCh37	2	225653873	225653873	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	51	81	0	ENST00000258390.7:c.5326G>T	p.Gly1776Ter	p.G1776*	ENST00000258390	NM_014689.2	1776	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS46528.1	5326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCCATAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	48/56	.	.	.	.	.	.	.	.	.	48/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,stop_gained,p.Gly1776Ter,ENST00000258390,;DOCK10,stop_gained,p.Gly1770Ter,ENST00000409592,;DOCK10,upstream_gene_variant,,ENST00000535663,;DOCK10,downstream_gene_variant,,ENST00000492251,;	5394	81	103	SUCCESS
SF3B14	0	.	GRCh37	2	24299188	24299188	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs35100357	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	46	1	ENST00000233468.4:c.-89C>A		p.*30*	ENST00000233468	NM_016047.3			0	.	A:0.0091	.	A:0	.	T	.	protein_coding	YES	CCDS1707.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCAGGACATC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	.	A:0	.	ENSP00000233468	A:0	1/4	.	.	.	.	.	.	.	.	rs35100357	1/4	PASS	ENST00000233468	Transcript	.	A:0.0024	ENSG00000115128	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	PM14_HUMAN	SF3B14	Uniprot_gn	Q53TM1_HUMAN	.	UPI0000000963	SNV	SF3B14,5_prime_UTR_variant,,ENST00000233468,;TP53I3,downstream_gene_variant,,ENST00000313482,;TP53I3,downstream_gene_variant,,ENST00000238721,;TP53I3,downstream_gene_variant,,ENST00000335934,;TP53I3,downstream_gene_variant,,ENST00000407482,;TP53I3,downstream_gene_variant,,ENST00000413037,;TP53I3,downstream_gene_variant,,ENST00000417886,;FAM228B,upstream_gene_variant,,ENST00000461972,;FAM228B,upstream_gene_variant,,ENST00000460686,;FAM228B,upstream_gene_variant,,ENST00000468799,;FAM228B,upstream_gene_variant,,ENST00000469867,;FAM228B,upstream_gene_variant,,ENST00000486967,;SF3B14,non_coding_transcript_exon_variant,,ENST00000478050,;	126	47	73	SUCCESS
CLHC1	130162	.	GRCh37	2	55402927	55402927	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	51	95	0	ENST00000401408.1:c.1760A>G	p.Ter587TrpextTer7	p.*587Wext*7	ENST00000401408	NM_152385.2	587	tAg/tGg	0	.	.	.	.	.	C	*/W	protein_coding	YES	CCDS33201.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTACCAA	NONE	.	.	.	.	.	ENSP00000384869	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000401408	Transcript	.	.	ENSG00000162994	26453	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLHC1_HUMAN	CLHC1	HGNC	E7EVC5_HUMAN,D6W5C8_HUMAN,B5MC48_HUMAN	.	UPI00004DEC65	SNV	CLHC1,stop_lost,p.Ter587TrpextTer7,ENST00000407122,;CLHC1,stop_lost,p.Ter465TrpextTer7,ENST00000406076,;CLHC1,stop_lost,p.Ter587TrpextTer7,ENST00000401408,;CLHC1,stop_lost,p.Ter138TrpextTer7,ENST00000406437,;CLHC1,non_coding_transcript_exon_variant,,ENST00000494539,;CLHC1,downstream_gene_variant,,ENST00000487320,;CLHC1,3_prime_UTR_variant,,ENST00000428621,;CLHC1,downstream_gene_variant,,ENST00000411884,;	2106	95	121	SUCCESS
ALMS1	7840	.	GRCh37	2	73681090	73681090	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	8	114	0	ENST00000264448.6:c.7433T>A	p.Leu2478Gln	p.L2478Q	ENST00000264448	NM_015120.4	2478	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS42697.1	7433	MUTECT|MUSE	.	TTCACTGGCTG	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Leu2478Gln,ENST00000377715,;ALMS1,missense_variant,p.Leu2436Gln,ENST00000409009,;ALMS1,missense_variant,p.Leu2478Gln,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,missense_variant,p.Leu756Gln,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	7544	114	175	SUCCESS
DZIP3	9666	.	GRCh37	3	108373044	108373044	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	41	136	0	ENST00000361582.3:c.2086C>T	p.His696Tyr	p.H696Y	ENST00000361582	NM_014648.3	696	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS2952.1	2086	RADIA|MUTECT|MUSE	.	ATCCACACTCA	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated_low_confidence(0.31)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.His696Tyr,ENST00000463306,;DZIP3,missense_variant,p.His696Tyr,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	2316	136	140	SUCCESS
SACM1L	22908	.	GRCh37	3	45730900	45730900	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	71	0	ENST00000389061.5:c.-58G>T		p.*20*	ENST00000389061	NM_014016.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGAGGTG	NONE	.	.	.	.	.	ENSP00000373713	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000389061	Transcript	.	.	ENSG00000211456	17059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAC1_HUMAN	SACM1L	HGNC	E9PGZ4_HUMAN,C9JV50_HUMAN	.	UPI000006EAA5	SNV	SACM1L,5_prime_UTR_variant,,ENST00000438671,;SACM1L,5_prime_UTR_variant,,ENST00000389061,;SACM1L,5_prime_UTR_variant,,ENST00000418611,;LIMD1,downstream_gene_variant,,ENST00000273317,;SACM1L,upstream_gene_variant,,ENST00000541314,;LIMD1-AS1,upstream_gene_variant,,ENST00000427644,;LIMD1-AS1,upstream_gene_variant,,ENST00000429798,;SACM1L,intron_variant,,ENST00000464524,;SACM1L,upstream_gene_variant,,ENST00000478586,;SACM1L,5_prime_UTR_variant,,ENST00000441228,;SACM1L,5_prime_UTR_variant,,ENST00000455997,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463237,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463347,;SACM1L,upstream_gene_variant,,ENST00000445499,;	147	71	91	SUCCESS
PDE12	201626	.	GRCh37	3	57542702	57542702	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	37	99	0	ENST00000311180.8:c.596A>C	p.Lys199Thr	p.K199T	ENST00000311180	NM_177966.5	199	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS33772.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATAAGGAAG	NONE	.	.	hmmpanther:PTHR12121:SF37,hmmpanther:PTHR12121	.	.	ENSP00000309142	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000311180	Transcript	.	.	ENSG00000174840	25386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.01)	.	PDE12_HUMAN	PDE12	HGNC	.	.	UPI000049DFA7	SNV	PDE12,missense_variant,p.Lys199Thr,ENST00000311180,;PDE12,missense_variant,p.Lys199Thr,ENST00000487257,;	699	99	107	SUCCESS
LRIG1	26018	.	GRCh37	3	66465346	66465346	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	68	0	ENST00000273261.3:c.645A>G		p.X215_splice	ENST00000273261	NM_015541.2	215	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS33783.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTTGTGT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,SMART_domains:SM00365,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS51450	.	.	ENSP00000273261	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,synonymous_variant,p.%3D,ENST00000383703,;LRIG1,synonymous_variant,p.%3D,ENST00000273261,;LRIG1,splice_region_variant,,ENST00000497721,;LRIG1,splice_region_variant,,ENST00000498287,;LRIG1,downstream_gene_variant,,ENST00000475366,;LRIG1,upstream_gene_variant,,ENST00000491821,;	1170	68	104	SUCCESS
ZNF654	55279	.	GRCh37	3	88189316	88189316	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	72	0	ENST00000309495.5:c.856G>A	p.Ala286Thr	p.A286T	ENST00000309495	NM_018293.2	286	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46874.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTGCCCAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR15507,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000312141	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000309495	Transcript	.	.	ENSG00000175105	25612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.11)	.	ZN654_HUMAN	ZNF654	HGNC	.	.	UPI0000DD0307	SNV	ZNF654,missense_variant,p.Ala286Thr,ENST00000309495,;CGGBP1,intron_variant,,ENST00000462901,;CGGBP1,intron_variant,,ENST00000467332,;RP11-159G9.5,downstream_gene_variant,,ENST00000473136,;RP11-159G9.5,downstream_gene_variant,,ENST00000498458,;	1063	72	65	SUCCESS
ZNF827	152485	.	GRCh37	4	146695657	146695657	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	121	0	ENST00000508784.1:c.2860+1G>C		p.X954_splice	ENST00000508784		954		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34072.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACCTGTG	NONE	.	.	.	.	.	ENSP00000368761	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	HIGH	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,splice_donor_variant,,ENST00000511659,;ZNF827,splice_donor_variant,,ENST00000508784,;ZNF827,splice_donor_variant,,ENST00000379448,;ZNF827,splice_donor_variant,,ENST00000513320,;C4orf51,downstream_gene_variant,,ENST00000510096,;ZNF827,splice_donor_variant,,ENST00000515386,;	.	121	136	SUCCESS
FRG1	2483	.	GRCh37	4	190878650	190878650	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	511	13	515	0	ENST00000226798.4:c.530T>C	p.Met177Thr	p.M177T	ENST00000226798	NM_004477.2	177	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS34121.1	530	MUTECT|MUSE	.	AGAAATGATCA	BUFFER|p.E176*|c.526G>T|3,BUFFER|p.I178M|c.534C>G|4	.	.	hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Gene3D:2.80.10.50,Pfam_domain:PF06229,Superfamily_domains:SSF50405	.	.	ENSP00000226798	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000226798	Transcript	1	.	ENSG00000109536	3954	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.607)	.	deleterious(0.03)	.	FRG1_HUMAN	FRG1	HGNC	E9PRR7_HUMAN	.	UPI000012AC04	SNV	FRG1,missense_variant,p.Met114Thr,ENST00000531991,;FRG1,missense_variant,p.Met177Thr,ENST00000226798,;FRG1,missense_variant,p.Met49Thr,ENST00000524583,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,downstream_gene_variant,,ENST00000533157,;FRG1,upstream_gene_variant,,ENST00000507103,;	752	515	525	SUCCESS
HTT	3064	.	GRCh37	4	3123007	3123007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	40	78	0	ENST00000355072.5:c.1121C>A	p.Thr374Asn	p.T374N	ENST00000355072	NM_002111.6	374	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS43206.1	1121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGACCGGAG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	9/67	.	.	.	.	.	.	.	.	.	9/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.414)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Thr374Asn,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000506137,;HTT,upstream_gene_variant,,ENST00000512909,;	1266	78	103	SUCCESS
WDR19	57728	.	GRCh37	4	39229836	39229836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	57	0	ENST00000399820.3:c.1636G>T	p.Asp546Tyr	p.D546Y	ENST00000399820	NM_025132.3	546	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS47042.1	1636	MUTECT|MUSE	.	TCAATGACGCT	NONE	.	.	Superfamily_domains:SSF82171,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	.	.	ENSP00000382717	.	16/37	.	.	.	.	.	.	.	.	.	16/37	PASS	ENST00000399820	Transcript	1	.	ENSG00000157796	18340	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,missense_variant,p.Asp386Tyr,ENST00000288634,;WDR19,missense_variant,p.Asp546Tyr,ENST00000399820,;WDR19,intron_variant,,ENST00000511729,;WDR19,upstream_gene_variant,,ENST00000515631,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,upstream_gene_variant,,ENST00000507228,;	1790	57	56	SUCCESS
UGT2B4	7363	.	GRCh37	4	70352328	70352330	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	AAG	AAG	-	rs1317780715	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	93	0	ENST00000305107.6:c.1087_1089del	p.Leu363del	p.L363del	ENST00000305107	NM_021139.2	363	CTT/-	0	.	.	.	.	.	-	L/-	protein_coding	YES	CCDS43234.1	1087-1089	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTACCAAGAAGAT	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,PROSITE_patterns:PS00375,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,inframe_deletion,p.Leu363del,ENST00000305107,;UGT2B4,inframe_deletion,p.Leu363del,ENST00000512583,;UGT2B4,inframe_deletion,p.Leu227del,ENST00000381096,;UGT2B4,splice_region_variant,,ENST00000506580,;UGT2B4,splice_region_variant,,ENST00000502655,;UGT2B4,downstream_gene_variant,,ENST00000503836,;	1134-1136	93	82	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140307101	140307101	+	synonymous_variant	Silent	SNP	C	C	T	rs782661477	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	5	98	0	ENST00000253807.2:c.624C>T	p.Gly208=	p.G208=	ENST00000253807	NM_018898.3	208	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4241.1	624	MUTECT|MUSE	.	GACGGCGGGCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,PROSITE_profiles:PS50268	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	rs782661477	1/4	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,synonymous_variant,p.%3D,ENST00000253807,;PCDHAC1,synonymous_variant,p.%3D,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	624	98	133	SUCCESS
FLT4	2324	.	GRCh37	5	180048556	180048556	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	54	99	0	ENST00000261937.6:c.2006A>G	p.Tyr669Cys	p.Y669C	ENST00000261937	NM_182925.4	669	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4457.1	2006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTACTTC	NONE	.	.	SMART_domains:SM00409,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000261937	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,missense_variant,p.Tyr669Cys,ENST00000502649,;FLT4,missense_variant,p.Tyr669Cys,ENST00000261937,;FLT4,missense_variant,p.Tyr669Cys,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	2085	99	161	SUCCESS
CDH9	1007	.	GRCh37	5	26881251	26881251	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	79	0	ENST00000231021.4:c.2364A>C	p.Arg788=	p.R788=	ENST00000231021	NM_016279.3	788	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3893.1	2364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCTCGGTC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,synonymous_variant,p.%3D,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2537	79	139	SUCCESS
GZMA	3001	.	GRCh37	5	54401400	54401400	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	46	0	ENST00000274306.6:c.169G>A	p.Ala57Thr	p.A57T	ENST00000274306	NM_006144.3	57	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3965.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCTTTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF48,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000274306	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000274306	Transcript	.	.	ENSG00000145649	4708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.29)	.	GRAA_HUMAN	GZMA	HGNC	.	.	UPI000013D9FC	SNV	GZMA,missense_variant,p.Ala57Thr,ENST00000274306,;	204	46	40	SUCCESS
KIAA0947	0	.	GRCh37	5	5461240	5461240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	77	1	ENST00000296564.7:c.1793A>G	p.Asp598Gly	p.D598G	ENST00000296564	NM_015325.2	598	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47187.1	1793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGATACTC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.5)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Asp598Gly,ENST00000296564,;	2015	78	96	SUCCESS
ERBB2IP	0	.	GRCh37	5	65349290	65349290	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760228126	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	87	1	ENST00000284037.5:c.2144C>T	p.Ser715Leu	p.S715L	ENST00000284037	NM_001253697.1	715	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS58952.1	2144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCAACAG	NONE	.	.	.	.	.	ENSP00000426632	.	21/26	.	.	.	.	.	.	.	.	rs760228126,COSM3617491,COSM3617490,COSM3617489	21/26	PASS	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.003)	.	tolerated_low_confidence(0.07)	0,1,1,1	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380935,;ERBB2IP,missense_variant,p.Ser711Leu,ENST00000511297,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000284037,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000508515,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380943,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380938,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380936,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000506030,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380939,;ERBB2IP,intron_variant,,ENST00000416865,;ERBB2IP,upstream_gene_variant,,ENST00000511671,;ERBB2IP,upstream_gene_variant,,ENST00000503913,;	2235	88	95	SUCCESS
ARID1B	57492	.	GRCh37	6	157522055	157522055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	79	161	0	ENST00000346085.5:c.4327A>G	p.Ile1443Val	p.I1443V	ENST00000346085	NM_020732.3	1443	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55072.1	4327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGAATCCCG	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Ile1483Val,ENST00000367148,;ARID1B,missense_variant,p.Ile1430Val,ENST00000350026,;ARID1B,missense_variant,p.Ile952Val,ENST00000414678,;ARID1B,missense_variant,p.Ile1425Val,ENST00000275248,;ARID1B,missense_variant,p.Ile1443Val,ENST00000346085,;	4328	161	188	SUCCESS
LPA	4018	.	GRCh37	6	161016508	161016508	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766717857	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	27	73	0	ENST00000316300.5:c.3347C>A	p.Thr1116Asn	p.T1116N	ENST00000316300		1116	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS43523.1	3347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGTGTAA	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24261,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000395608	.	22/40	.	.	.	.	.	.	.	.	rs766717857	22/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,missense_variant,p.Thr1116Asn,ENST00000316300,;LPA,missense_variant,p.Thr1116Asn,ENST00000447678,;	3468	73	127	SUCCESS
NFKBIE	4794	.	GRCh37	6	44228252	44228252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	10	143	0	ENST00000275015.5:c.1133C>T	p.Thr378Ile	p.T378I	ENST00000275015	NM_004556.2	378	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34463.1	1133	MUTECT|MUSE	.	GAAGGGTGGCA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF37,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000275015	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000275015	Transcript	.	.	ENSG00000146232	7799	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.643)	.	deleterious(0.04)	.	IKBE_HUMAN	NFKBIE	HGNC	Q96F31_HUMAN,Q7LC14_HUMAN,H0Y4W4_HUMAN	.	UPI000013DA3C	SNV	NFKBIE,missense_variant,p.Thr378Ile,ENST00000275015,;SLC35B2,upstream_gene_variant,,ENST00000538577,;NFKBIE,upstream_gene_variant,,ENST00000443607,;SLC35B2,upstream_gene_variant,,ENST00000537814,;SLC35B2,upstream_gene_variant,,ENST00000393812,;SLC35B2,upstream_gene_variant,,ENST00000393810,;SLC35B2,upstream_gene_variant,,ENST00000495706,;NFKBIE,3_prime_UTR_variant,,ENST00000477930,;	1133	143	216	SUCCESS
THSD7A	221981	.	GRCh37	7	11446000	11446000	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	48	66	0	ENST00000423059.4:c.4164T>C	p.Cys1388=	p.C1388=	ENST00000423059	NM_015204.2	1388	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS47543.1	4164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCACAGAA	NONE	.	.	hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000406482	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,synonymous_variant,p.%3D,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;AC004160.4,upstream_gene_variant,,ENST00000425837,;	4416	66	135	SUCCESS
AKR1D1	6718	.	GRCh37	7	137791378	137791378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	39	0	ENST00000242375.3:c.604C>A	p.Gln202Lys	p.Q202K	ENST00000242375	NM_005989.3	202	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5846.1	604	MUTECT|MUSE	.	TCACCCAGCCA	NONE	.	.	hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000242375	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000242375	Transcript	.	.	ENSG00000122787	388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.326)	.	deleterious(0)	.	AK1D1_HUMAN	AKR1D1	HGNC	C4PL35_HUMAN	.	UPI0000125764	SNV	AKR1D1,missense_variant,p.Gln202Lys,ENST00000432161,;AKR1D1,missense_variant,p.Gln161Lys,ENST00000411726,;AKR1D1,missense_variant,p.Gln202Lys,ENST00000242375,;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;	646	39	52	SUCCESS
HIPK2	28996	.	GRCh37	7	139416619	139416619	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748732904	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	79	240	1	ENST00000406875.3:c.215C>T	p.Pro72Leu	p.P72L	ENST00000406875	NM_022740.4	72	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	.	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGGCAAG	NONE	byFrequency	.	hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058	.	.	ENSP00000385571	.	2/15	.	.	.	.	.	.	.	.	rs748732904	2/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.31)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Pro72Leu,ENST00000342645,;HIPK2,missense_variant,p.Pro72Leu,ENST00000428878,;HIPK2,missense_variant,p.Pro72Leu,ENST00000406875,;	310	241	370	SUCCESS
OPLAH	26873	.	GRCh37	8	145106719	145106719	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	28	0	ENST00000426825.1:c.3631C>G	p.Pro1211Ala	p.P1211A	ENST00000426825	NM_017570.3	1211	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	.	3631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCTCGC	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF02538	.	.	ENSP00000475943	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.18)	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,missense_variant,p.Pro1211Ala,ENST00000426825,;SPATC1,downstream_gene_variant,,ENST00000377470,;SPATC1,downstream_gene_variant,,ENST00000447830,;CTD-3065J16.6,downstream_gene_variant,,ENST00000561181,;CTD-3065J16.6,downstream_gene_variant,,ENST00000528912,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000531027,;OPLAH,downstream_gene_variant,,ENST00000527993,;	3713	28	41	SUCCESS
PDE7A	5150	.	GRCh37	8	66635839	66635840	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	38	0	ENST00000401827.3:c.1179dup	p.Tyr394IlefsTer14	p.Y394Ifs*14	ENST00000401827	NM_001242318.2	393	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS56538.1	1179-1180	INDELOCATOR|VARSCANI	.	ATGATATTTTT	NONE	.	.	Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF96	.	.	ENSP00000385632	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000401827	Transcript	.	.	ENSG00000205268	8791	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE7A_HUMAN	PDE7A	HGNC	Q86V65_HUMAN,Q7Z7I0_HUMAN	.	UPI0000127BFD	insertion	PDE7A,frameshift_variant,p.Tyr394IlefsTer14,ENST00000396642,;PDE7A,frameshift_variant,p.Tyr368IlefsTer14,ENST00000379419,;PDE7A,frameshift_variant,p.Tyr394IlefsTer14,ENST00000401827,;MTFR1,intron_variant,,ENST00000521247,;MTFR1,intron_variant,,ENST00000527155,;MTFR1,intron_variant,,ENST00000523158,;MTFR1,upstream_gene_variant,,ENST00000527553,;PDE7A,downstream_gene_variant,,ENST00000518667,;MTFR1,downstream_gene_variant,,ENST00000520398,;MTFR1,downstream_gene_variant,,ENST00000518352,;PDE7A,downstream_gene_variant,,ENST00000522220,;	1623-1624	38	59	SUCCESS
ESRP1	54845	.	GRCh37	8	95680361	95680361	+	synonymous_variant	Silent	SNP	C	C	T	rs748528710	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	121	85	1	ENST00000433389.2:c.1116C>T	p.Asp372=	p.D372=	ENST00000433389	NM_001034915.2	372	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS47897.1	1116	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGGACGCTTT	NONE	byFrequency	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF14259,Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,PROSITE_profiles:PS50102	.	.	ENSP00000405738	.	10/16	.	.	.	.	.	.	.	.	rs748528710	10/16	PASS	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,synonymous_variant,p.%3D,ENST00000433389,;ESRP1,synonymous_variant,p.%3D,ENST00000519505,;ESRP1,synonymous_variant,p.%3D,ENST00000517610,;ESRP1,synonymous_variant,p.%3D,ENST00000454170,;ESRP1,synonymous_variant,p.%3D,ENST00000423620,;ESRP1,synonymous_variant,p.%3D,ENST00000358397,;ESRP1,downstream_gene_variant,,ENST00000522756,;ESRP1,non_coding_transcript_exon_variant,,ENST00000517556,;	1306	87	205	SUCCESS
BMX	660	.	GRCh37	X	15560134	15560134	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	84	87	0	ENST00000342014.6:c.1424T>A	p.Phe475Tyr	p.F475Y	ENST00000342014	NM_001721.6	475	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS14168.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATTCTATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000350224	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000357607	Transcript	.	.	ENSG00000102010	1079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	BMX_HUMAN	BMX	HGNC	.	.	UPI0000000DFF	SNV	BMX,missense_variant,p.Phe475Tyr,ENST00000348343,;BMX,missense_variant,p.Phe475Tyr,ENST00000357607,;BMX,missense_variant,p.Phe475Tyr,ENST00000342014,;BMX,downstream_gene_variant,,ENST00000489983,;	1612	87	111	SUCCESS
CYSLTR1	10800	.	GRCh37	X	77528826	77528827	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	67	0	ENST00000373304.3:c.417dup	p.Ala140SerfsTer28	p.A140Sfs*28	ENST00000373304	NM_001282188.1	139	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS14439.1	417-418	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGGCTTTTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF12,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01533,Prints_domain:PR00237	.	.	ENSP00000362401	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373304	Transcript	.	.	ENSG00000173198	17451	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLTR1_HUMAN	CYSLTR1	HGNC	Q38Q91_HUMAN,Q38Q88_HUMAN	.	UPI000003ACDF	insertion	CYSLTR1,frameshift_variant,p.Ala140SerfsTer28,ENST00000373304,;	710-711	67	93	SUCCESS
SEC31B	25956	.	GRCh37	10	102265220	102265221	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	57	0	ENST00000370345.3:c.1076dup	p.Pro361ThrfsTer25	p.P361Tfs*25	ENST00000370345	NM_015490.3	359	ctc/ctTc	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS7495.1	1076-1077	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGGAGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	.	.	ENSP00000359370	.	10/26	.	.	.	.	.	.	.	.	.	10/26	nonpreferredpair	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	insertion	SEC31B,frameshift_variant,p.Pro361ThrfsTer25,ENST00000370345,;SEC31B,frameshift_variant,p.Pro361ThrfsTer25,ENST00000451524,;SEC31B,downstream_gene_variant,,ENST00000370329,;NDUFB8,downstream_gene_variant,,ENST00000531258,;SEC31B,downstream_gene_variant,,ENST00000535773,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000490567,;SEC31B,non_coding_transcript_exon_variant,,ENST00000484848,;NDUFB8,downstream_gene_variant,,ENST00000527595,;NDUFB8,downstream_gene_variant,,ENST00000557395,;NDUFB8,downstream_gene_variant,,ENST00000529568,;SEC31B,downstream_gene_variant,,ENST00000480905,;	1174-1175	57	105	SUCCESS
WDFY4	57705	.	GRCh37	10	50022050	50022050	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	64	0	ENST00000325239.5:c.5263G>A	p.Glu1755Lys	p.E1755K	ENST00000325239	NM_020945.1	1755	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44385.1	5263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAAGAA	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	30/61	.	.	.	.	.	.	.	.	.	30/61	nonpreferredpair	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.26)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Glu1755Lys,ENST00000325239,;WDFY4,missense_variant,p.Glu302Lys,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;	5290	64	58	SUCCESS
ABTB2	25841	.	GRCh37	11	34189528	34189528	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	91	0	ENST00000435224.2:c.1575A>C	p.Pro525=	p.P525=	ENST00000435224	NM_145804.2	525	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7890.2	1575	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTGGCGT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000410157	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000435224	Transcript	.	.	ENSG00000166016	23842	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABTB2_HUMAN	ABTB2	HGNC	.	.	UPI0001DD21BB	SNV	ABTB2,synonymous_variant,p.%3D,ENST00000435224,;ABTB2,synonymous_variant,p.%3D,ENST00000298992,;	2000	91	108	SUCCESS
LRP4	4038	.	GRCh37	11	46921839	46921839	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766174802	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	67	109	0	ENST00000378623.1:c.290A>T	p.Glu97Val	p.E97V	ENST00000378623	NM_002334.3	97	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS31478.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTCACAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000367888	.	3/38	.	.	.	.	.	.	.	.	rs766174802	3/38	nonpreferredpair	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.09)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Glu48Val,ENST00000534404,;LRP4,missense_variant,p.Glu97Val,ENST00000378623,;	533	109	169	SUCCESS
MYRF	745	.	GRCh37	11	61547742	61547742	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	64	280	0	ENST00000278836.5:c.2385G>C	p.Glu795Asp	p.E795D	ENST00000278836	NM_001127392.1	795	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44622.1	2385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGACCT	NONE	.	.	hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16	.	.	ENSP00000278836	.	18/27	.	.	.	.	.	.	.	.	.	18/27	nonpreferredpair	ENST00000278836	Transcript	.	.	ENSG00000124920	1181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.35)	.	MRF_HUMAN	MYRF	HGNC	.	.	UPI0000D45F7B	SNV	MYRF,missense_variant,p.Glu795Asp,ENST00000278836,;MYRF,missense_variant,p.Glu186Asp,ENST00000389602,;MYRF,missense_variant,p.Glu786Asp,ENST00000265460,;MYRF,missense_variant,p.Gly478Arg,ENST00000327797,;TMEM258,intron_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000536352,;MYRF,non_coding_transcript_exon_variant,,ENST00000546247,;MYRF,non_coding_transcript_exon_variant,,ENST00000537318,;MYRF,upstream_gene_variant,,ENST00000539361,;	2481	280	352	SUCCESS
ACY3	91703	.	GRCh37	11	67413176	67413176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	77	146	0	ENST00000255082.3:c.419G>A	p.Cys140Tyr	p.C140Y	ENST00000255082	NM_080658.1	140	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS8175.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCACAGG	NONE	.	.	HAMAP:MF_00704,hmmpanther:PTHR15162:SF1,hmmpanther:PTHR15162,Gene3D:3.40.630.10,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,Superfamily_domains:SSF53187	.	.	ENSP00000255082	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000255082	Transcript	.	.	ENSG00000132744	24104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	tolerated(0.42)	.	ACY3_HUMAN	ACY3	HGNC	E9PRA7_HUMAN	.	UPI0000073C5C	SNV	ACY3,missense_variant,p.Cys19Tyr,ENST00000529256,;ACY3,missense_variant,p.Cys140Tyr,ENST00000255082,;	590	146	157	SUCCESS
CREBZF	58487	.	GRCh37	11	85376128	85376128	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	G	G	A	rs980966197	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	55	0	ENST00000490820.2:c.-209C>T		p.*70*	ENST00000490820				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41697.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGCGATG	NONE	.	.	.	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	SNV	CREBZF,5_prime_UTR_variant,,ENST00000527447,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,upstream_gene_variant,,ENST00000398294,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,5_prime_UTR_variant,,ENST00000525639,;CREBZF,5_prime_UTR_variant,,ENST00000490820,;CREBZF,upstream_gene_variant,,ENST00000260058,;CREBZF,upstream_gene_variant,,ENST00000528889,;CREBZF,upstream_gene_variant,,ENST00000527529,;CREBZF,upstream_gene_variant,,ENST00000528561,;	19	55	82	SUCCESS
CRY1	1407	.	GRCh37	12	107393336	107393336	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	89	0	ENST00000008527.5:c.1130G>C	p.Gly377Ala	p.G377A	ENST00000008527	NM_004075.4	377	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS9112.1	1130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTCCTTCT	NONE	.	.	Superfamily_domains:SSF48173,Gene3D:1owlA03,Pfam_domain:PF03441,hmmpanther:PTHR11455:SF16,hmmpanther:PTHR11455	.	.	ENSP00000008527	.	7/13	.	.	.	.	.	.	.	.	.	7/13	nonpreferredpair	ENST00000008527	Transcript	.	.	ENSG00000008405	2384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CRY1_HUMAN	CRY1	HGNC	H0YHT0_HUMAN,A2I2P0_HUMAN	.	UPI0000073E80	SNV	CRY1,missense_variant,p.Gly377Ala,ENST00000008527,;CRY1,upstream_gene_variant,,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;CRY1,downstream_gene_variant,,ENST00000546722,;	1998	89	76	SUCCESS
HECTD4	283450	.	GRCh37	12	112601506	112601506	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs564542020	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	85	0	ENST00000550722.1:c.12299G>A	p.Arg4100Gln	p.R4100Q	ENST00000550722	NM_001109662.3	4100	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	.	12299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCGGATG	NONE	by1000G	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	T:0	.	ENSP00000449784	T:0	74/76	.	.	.	.	.	.	.	.	rs564542020	74/76	nonpreferredpair	ENST00000550722	Transcript	.	T:0.0002	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	T:0	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Arg3824Gln,ENST00000430131,;HECTD4,missense_variant,p.Arg4100Gln,ENST00000550722,;HECTD4,missense_variant,p.Arg4074Gln,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000549141,;HECTD4,upstream_gene_variant,,ENST00000549306,;HECTD4,non_coding_transcript_exon_variant,,ENST00000547085,;HECTD4,downstream_gene_variant,,ENST00000548140,;	12695	85	58	SUCCESS
KRT79	338785	.	GRCh37	12	53216820	53216820	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	92	0	ENST00000330553.5:c.1347T>C	p.Leu449=	p.L449=	ENST00000330553	NM_175834.2	449	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8839.1	1347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGAAGCTT	NONE	.	.	Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,PROSITE_patterns:PS00226,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138	.	.	ENSP00000328358	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,synonymous_variant,p.%3D,ENST00000549255,;KRT79,synonymous_variant,p.%3D,ENST00000330553,;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,;	1382	92	64	SUCCESS
DPY19L2	283417	.	GRCh37	12	63977667	63977667	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	16	104	0	ENST00000324472.4:c.1581-51C>G		p.*527*	ENST00000324472	NM_173812.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31851.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATGAATAC	NONE	.	.	.	.	.	ENSP00000315988	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000324472	Transcript	.	.	ENSG00000177990	19414	.	.	MODIFIER	16/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	D19L2_HUMAN	DPY19L2	HGNC	F5H4G6_HUMAN,F5H1L7_HUMAN,B4E191_HUMAN	.	UPI000006EC0C	SNV	DPY19L2,5_prime_UTR_variant,,ENST00000413230,;DPY19L2,intron_variant,,ENST00000324472,;DPY19L2,intron_variant,,ENST00000439061,;	.	104	80	SUCCESS
SLC10A2	6555	.	GRCh37	13	103705045	103705045	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	117	0	ENST00000245312.3:c.510T>A	p.Val170=	p.V170=	ENST00000245312	NM_000452.2	170	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9506.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAACCAG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19	.	.	ENSP00000245312	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000245312	Transcript	.	.	ENSG00000125255	10906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTCP2_HUMAN	SLC10A2	HGNC	.	.	UPI000013CB9B	SNV	SLC10A2,synonymous_variant,p.%3D,ENST00000245312,;	1107	117	85	SUCCESS
CLN5	1203	.	GRCh37	13	77566254	77566254	+	synonymous_variant	Silent	SNP	G	G	C	rs1057521258	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	65	0	ENST00000377453.3:c.168G>C	p.Thr56=	p.T56=	ENST00000377453	NM_006493.2	56	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS9456.1	168	RADIA|MUTECT|MUSE|VARSCANS	.	GACACGGCACA	NONE	.	.	.	.	.	ENSP00000366673	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000377453	Transcript	.	.	ENSG00000102805	2076	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLN5_HUMAN	CLN5	HGNC	B4E1V6_HUMAN	.	UPI0000127AD8	SNV	CLN5,synonymous_variant,p.%3D,ENST00000377453,;CLN5,non_coding_transcript_exon_variant,,ENST00000485938,;FBXL3,downstream_gene_variant,,ENST00000485797,;DHX9P1,downstream_gene_variant,,ENST00000436565,;	1460	65	29	SUCCESS
BAZ1A	11177	.	GRCh37	14	35255190	35255190	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	21	0	ENST00000360310.1:c.1624T>C	p.Leu542=	p.L542=	ENST00000360310	NM_013448.2	542	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS9651.1	1624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAACTTT	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145	.	.	ENSP00000353458	.	14/27	.	.	.	.	.	.	.	.	.	14/27	nonpreferredpair	ENST00000360310	Transcript	.	.	ENSG00000198604	960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAZ1A_HUMAN	BAZ1A	HGNC	D3DS96_HUMAN	.	UPI00001584D3	SNV	BAZ1A,synonymous_variant,p.%3D,ENST00000358716,;BAZ1A,synonymous_variant,p.%3D,ENST00000360310,;BAZ1A,synonymous_variant,p.%3D,ENST00000382422,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000553385,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000555273,;BAZ1A,upstream_gene_variant,,ENST00000556314,;	2192	21	15	SUCCESS
TLN2	83660	.	GRCh37	15	63029258	63029258	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	51	153	0	ENST00000306829.6:c.3540T>G	p.Asp1180Glu	p.D1180E	ENST00000306829	NM_015059.2	1180	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS32261.1	3540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATGCAGA	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1r0dB00,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	28/58	.	.	.	.	.	.	.	.	.	28/58	nonpreferredpair	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.05)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Asp94Glu,ENST00000494733,;TLN2,missense_variant,p.Asp1180Glu,ENST00000561311,;TLN2,missense_variant,p.Asp1180Glu,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000559908,;TLN2,upstream_gene_variant,,ENST00000489129,;	3770	153	255	SUCCESS
ALPK3	57538	.	GRCh37	15	85400702	85400702	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	48	101	0	ENST00000258888.5:c.3339A>C	p.Thr1113=	p.T1113=	ENST00000258888	NM_020778.4	1113	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10333.1	3339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACACTGCA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21	.	.	ENSP00000258888	.	6/14	.	.	.	.	.	.	.	.	.	6/14	nonpreferredpair	ENST00000258888	Transcript	.	.	ENSG00000136383	17574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALPK3_HUMAN	ALPK3	HGNC	.	.	UPI000013D013	SNV	ALPK3,synonymous_variant,p.%3D,ENST00000258888,;SNORA25,upstream_gene_variant,,ENST00000364121,;	3506	101	91	SUCCESS
UMOD	7369	.	GRCh37	16	20344665	20344665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	372	11	363	0	ENST00000302509.4:c.1894T>A	p.Ser632Thr	p.S632T	ENST00000302509		632	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS10583.1	1894	MUTECT|MUSE	.	GGCCGAGAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF12	.	.	ENSP00000460548	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000570689	Transcript	.	.	ENSG00000169344	12559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(1)	.	UROM_HUMAN	UMOD	HGNC	Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN	.	UPI0000137E1A	SNV	UMOD,missense_variant,p.Ser632Thr,ENST00000570689,;UMOD,missense_variant,p.Ser632Thr,ENST00000396142,;UMOD,missense_variant,p.Ser665Thr,ENST00000396134,;UMOD,missense_variant,p.Ser632Thr,ENST00000302509,;UMOD,missense_variant,p.Ser665Thr,ENST00000424589,;UMOD,missense_variant,p.Ser681Thr,ENST00000396138,;UMOD,non_coding_transcript_exon_variant,,ENST00000570331,;	2041	363	383	SUCCESS
GFOD2	81577	.	GRCh37	16	67709857	67709857	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	40	180	0	ENST00000268797.7:c.359T>C	p.Val120Ala	p.V120A	ENST00000268797	NM_030819.3	120	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10845.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTACCAGG	NONE	.	.	hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF90,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000268797	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000268797	Transcript	.	.	ENSG00000141098	28159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.03)	.	GFOD2_HUMAN	GFOD2	HGNC	.	.	UPI000013D7DD	SNV	GFOD2,missense_variant,p.Val120Ala,ENST00000268797,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602627,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602377,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602522,;GFOD2,downstream_gene_variant,,ENST00000602496,;GFOD2,downstream_gene_variant,,ENST00000602279,;	705	181	137	SUCCESS
MED13	9969	.	GRCh37	17	60064481	60064481	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745497498	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	49	148	0	ENST00000397786.2:c.2272C>T	p.Arg758Cys	p.R758C	ENST00000397786	NM_005121.2	758	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42366.1	2272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGTGGAG	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950	.	.	ENSP00000380888	.	12/30	.	.	.	.	.	.	.	.	rs745497498	12/30	nonpreferredpair	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.08)	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Arg758Cys,ENST00000397786,;	2349	148	175	SUCCESS
FASN	2194	.	GRCh37	17	80040554	80040554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	54	123	0	ENST00000306749.2:c.5768G>A	p.Gly1923Asp	p.G1923D	ENST00000306749	NM_004104.4	1923	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11801.1	5768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCCTGCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF08659,Gene3D:3.40.50.720,SMART_domains:SM00822,Superfamily_domains:SSF51735	.	.	ENSP00000304592	.	34/43	.	.	.	.	.	.	.	.	.	34/43	nonpreferredpair	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Gly1923Asp,ENST00000306749,;FASN,splice_region_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5987	123	110	SUCCESS
KIAA1328	57536	.	GRCh37	18	34647263	34647263	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	16	245	1	ENST00000280020.5:c.987G>C	p.Lys329Asn	p.K329N	ENST00000280020	NM_020776.1	329	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS45855.1	987	MUTECT|MUSE	.	CCTAAGACACA	NONE	.	.	Pfam_domain:PF15369	.	.	ENSP00000280020	.	7/10	.	.	.	.	.	.	.	.	.	7/10	nonpreferredpair	ENST00000280020	Transcript	.	.	ENSG00000150477	29248	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.168)	.	tolerated(0.25)	.	K1328_HUMAN	KIAA1328	HGNC	.	.	UPI00001C1FF0	SNV	KIAA1328,missense_variant,p.Lys221Asn,ENST00000543923,;KIAA1328,missense_variant,p.Lys45Asn,ENST00000435985,;KIAA1328,missense_variant,p.Lys317Asn,ENST00000587139,;KIAA1328,missense_variant,p.Lys325Asn,ENST00000591619,;KIAA1328,missense_variant,p.Lys329Asn,ENST00000280020,;KIAA1328,missense_variant,p.Lys45Asn,ENST00000586135,;KIAA1328,missense_variant,p.Lys45Asn,ENST00000586501,;KIAA1328,downstream_gene_variant,,ENST00000591911,;KIAA1328,upstream_gene_variant,,ENST00000599493,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;	1009	246	208	SUCCESS
PTPRM	5797	.	GRCh37	18	8247842	8247842	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs762305091	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	75	0	ENST00000332175.8:c.2453-1G>T		p.X818_splice	ENST00000332175	NM_002845.3	818		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58613.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGCTGTG	NONE	.	.	.	.	.	ENSP00000463325	.	.	.	.	.	.	.	.	.	.	rs762305091	.	nonpreferredpair	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	HIGH	15/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,splice_acceptor_variant,,ENST00000332175,;PTPRM,splice_acceptor_variant,,ENST00000400060,;PTPRM,splice_acceptor_variant,,ENST00000444013,;PTPRM,splice_acceptor_variant,,ENST00000400053,;PTPRM,splice_acceptor_variant,,ENST00000577468,;PTPRM,splice_acceptor_variant,,ENST00000580170,;PTPRM,splice_acceptor_variant,,ENST00000578093,;PTPRM,upstream_gene_variant,,ENST00000580838,;PTPRM,splice_acceptor_variant,,ENST00000577827,;	.	75	60	SUCCESS
UNC13A	23025	.	GRCh37	19	17720864	17720864	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	68	125	0	ENST00000519716.2:c.4696C>T	p.Arg1566Trp	p.R1566W	ENST00000519716	NM_001080421.2	1566	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS46013.2	4696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGGAAGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10480,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000429562	.	43/44	.	.	.	.	.	.	.	.	.	43/44	nonpreferredpair	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,missense_variant,p.Arg1566Trp,ENST00000252773,;UNC13A,missense_variant,p.Arg1566Trp,ENST00000519716,;UNC13A,missense_variant,p.Arg1560Trp,ENST00000552293,;UNC13A,missense_variant,p.Arg1539Trp,ENST00000550896,;UNC13A,missense_variant,p.Arg1585Trp,ENST00000551649,;UNC13A,missense_variant,p.Arg1654Trp,ENST00000428389,;CTD-3149D2.3,upstream_gene_variant,,ENST00000600512,;UNC13A,non_coding_transcript_exon_variant,,ENST00000523229,;UNC13A,non_coding_transcript_exon_variant,,ENST00000517497,;	4696	125	185	SUCCESS
TIMM13	26517	.	GRCh37	19	2427289	2427289	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	51	0	ENST00000215570.3:c.154G>A	p.Gly52Arg	p.G52R	ENST00000215570	NM_012458.3	52	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12089.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCTATAC	NONE	.	.	hmmpanther:PTHR19338,Gene3D:1.10.287.810,Pfam_domain:PF02953,Superfamily_domains:SSF144122	.	.	ENSP00000215570	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000215570	Transcript	.	.	ENSG00000099800	11816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.419)	.	tolerated(0.36)	.	TIM13_HUMAN	TIMM13	HGNC	.	.	UPI000012D06F	SNV	TIMM13,missense_variant,p.Gly52Arg,ENST00000215570,;TIMM13,missense_variant,p.Gly37Arg,ENST00000591871,;TMPRSS9,downstream_gene_variant,,ENST00000332578,;LMNB2,downstream_gene_variant,,ENST00000582871,;LMNB2,downstream_gene_variant,,ENST00000325327,;LMNB2,downstream_gene_variant,,ENST00000532465,;LMNB2,downstream_gene_variant,,ENST00000475819,;	515	51	62	SUCCESS
PLEKHG2	64857	.	GRCh37	19	39914693	39914693	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	76	162	0	ENST00000425673.1:c.2833G>A	p.Asp945Asn	p.D945N	ENST00000425673		945	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33022.2	2920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGATCAA	NONE	.	.	.	.	.	ENSP00000386733	.	19/19	.	.	.	.	.	.	.	.	.	19/19	nonpreferredpair	ENST00000409794	Transcript	.	.	ENSG00000090924	29515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.282)	.	deleterious_low_confidence(0)	.	PKHG2_HUMAN	PLEKHG2	HGNC	.	.	UPI00001C2028	SNV	PLEKHG2,missense_variant,p.Asp842Asn,ENST00000205135,;PLEKHG2,missense_variant,p.Asp945Asn,ENST00000425673,;PLEKHG2,missense_variant,p.Asp915Asn,ENST00000458508,;PLEKHG2,missense_variant,p.Asp974Asn,ENST00000409794,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,intron_variant,,ENST00000378550,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000600210,;PLEKHG2,upstream_gene_variant,,ENST00000598238,;PLEKHG2,upstream_gene_variant,,ENST00000594161,;PLEKHG2,upstream_gene_variant,,ENST00000594124,;PLEKHG2,upstream_gene_variant,,ENST00000596339,;CTB-60E11.4,upstream_gene_variant,,ENST00000601124,;PLEKHG2,downstream_gene_variant,,ENST00000594307,;PLEKHG2,downstream_gene_variant,,ENST00000474449,;PLEKHG2,downstream_gene_variant,,ENST00000478523,;	3770	162	154	SUCCESS
DRAXIN	374946	.	GRCh37	1	11771928	11771928	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763504108	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	113	0	ENST00000294485.5:c.663C>A	p.Asp221Glu	p.D221E	ENST00000294485	NM_198545.3	221	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS135.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACGGGGA	NONE	byFrequency	.	Pfam_domain:PF15550	.	.	ENSP00000294485	.	4/7	.	.	.	.	.	.	.	.	rs763504108	4/7	nonpreferredpair	ENST00000294485	Transcript	.	.	ENSG00000162490	25054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.37)	.	DRAXI_HUMAN	DRAXIN	HGNC	.	.	UPI000013E16C	SNV	DRAXIN,missense_variant,p.Asp221Glu,ENST00000294485,;	798	113	113	SUCCESS
GDAP2	54834	.	GRCh37	1	118455267	118455267	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	54	111	0	ENST00000369443.5:c.355A>T	p.Asn119Tyr	p.N119Y	ENST00000369443	NM_017686.3	119	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS897.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATTGAATC	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF59,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000358451	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000369443	Transcript	.	.	ENSG00000196505	18010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.01)	.	GDAP2_HUMAN	GDAP2	HGNC	.	.	UPI0000071019	SNV	GDAP2,missense_variant,p.Asn119Tyr,ENST00000369442,;GDAP2,missense_variant,p.Asn119Tyr,ENST00000369443,;GDAP2,non_coding_transcript_exon_variant,,ENST00000494224,;GDAP2,non_coding_transcript_exon_variant,,ENST00000493555,;	605	111	111	SUCCESS
GDAP2	54834	.	GRCh37	1	118455268	118455268	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	55	109	0	ENST00000369443.5:c.354C>A	p.Phe118Leu	p.F118L	ENST00000369443	NM_017686.3	118	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS897.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGAATCC	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF59,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000358451	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000369443	Transcript	.	.	ENSG00000196505	18010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.441)	.	deleterious(0.03)	.	GDAP2_HUMAN	GDAP2	HGNC	.	.	UPI0000071019	SNV	GDAP2,missense_variant,p.Phe118Leu,ENST00000369442,;GDAP2,missense_variant,p.Phe118Leu,ENST00000369443,;GDAP2,non_coding_transcript_exon_variant,,ENST00000494224,;GDAP2,non_coding_transcript_exon_variant,,ENST00000493555,;	604	109	113	SUCCESS
FHAD1	114827	.	GRCh37	1	15639652	15639652	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	301	50	323	0	ENST00000358897.4:c.1139A>G	p.Lys380Arg	p.K380R	ENST00000358897	NM_052929.1	380	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	.	257	RADIA|MUTECT|MUSE|VARSCANS	.	GGACAAGGACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853	.	.	ENSP00000365163	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	tolerated(0.45)	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	SNV	FHAD1,missense_variant,p.Lys95Arg,ENST00000375997,;FHAD1,missense_variant,p.Lys86Arg,ENST00000401090,;FHAD1,missense_variant,p.Lys380Arg,ENST00000417793,;FHAD1,missense_variant,p.Lys380Arg,ENST00000358897,;FHAD1,missense_variant,p.Lys86Arg,ENST00000375995,;FHAD1,missense_variant,p.Lys380Arg,ENST00000375998,;FHAD1,missense_variant,p.Lys380Arg,ENST00000375999,;FHAD1,intron_variant,,ENST00000524761,;FHAD1,non_coding_transcript_exon_variant,,ENST00000483694,;FHAD1,non_coding_transcript_exon_variant,,ENST00000375996,;	264	323	351	SUCCESS
OR6N2	81442	.	GRCh37	1	158747387	158747387	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	311	122	260	0	ENST00000339258.1:c.39G>T	p.Val13=	p.V13=	ENST00000339258	NM_001005278.1	13	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30906.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACACAAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF68,hmmpanther:PTHR26451	.	.	ENSP00000344101	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000339258	Transcript	.	.	ENSG00000188340	15035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6N2_HUMAN	OR6N2	HGNC	.	.	UPI0000041C8E	SNV	OR6N2,synonymous_variant,p.%3D,ENST00000339258,;	39	260	433	SUCCESS
ATP2B4	493	.	GRCh37	1	203702358	203702358	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	21	60	0	ENST00000357681.5:c.3309+5659T>C		p.*1103*	ENST00000357681	NM_001684.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1440.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGACGTAATTA	NONE	.	.	.	.	.	ENSP00000350310	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODIFIER	20/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Val1106Ala,ENST00000341360,;ATP2B4,missense_variant,p.Val71Ala,ENST00000356729,;ATP2B4,missense_variant,p.Val1106Ala,ENST00000367218,;ATP2B4,missense_variant,p.Val1070Ala,ENST00000391954,;ATP2B4,missense_variant,p.Val1094Ala,ENST00000367219,;ATP2B4,intron_variant,,ENST00000357681,;ATP2B4,downstream_gene_variant,,ENST00000458092,;SNORA77,downstream_gene_variant,,ENST00000408716,;ATP2B4,missense_variant,p.Val38Ala,ENST00000484746,;	.	60	132	SUCCESS
RCOR3	55758	.	GRCh37	1	211486854	211486854	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	62	100	0	ENST00000367005.4:c.1232T>A	p.Leu411Gln	p.L411Q	ENST00000367005	NM_018254.3	411	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44312.1	1406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTGAACC	NONE	.	.	hmmpanther:PTHR16089	.	.	ENSP00000413929	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.748)	.	tolerated(0.09)	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,missense_variant,p.Leu187Gln,ENST00000529763,;RCOR3,missense_variant,p.Leu469Gln,ENST00000419091,;RCOR3,missense_variant,p.Leu411Gln,ENST00000367005,;RCOR3,synonymous_variant,p.%3D,ENST00000367006,;RCOR3,downstream_gene_variant,,ENST00000534460,;RCOR3,downstream_gene_variant,,ENST00000452621,;RCOR3,non_coding_transcript_exon_variant,,ENST00000526255,;RCOR3,non_coding_transcript_exon_variant,,ENST00000486666,;RCOR3,downstream_gene_variant,,ENST00000485186,;RCOR3,downstream_gene_variant,,ENST00000528066,;RCOR3,downstream_gene_variant,,ENST00000528926,;	1534	100	181	SUCCESS
ZBTB18	10472	.	GRCh37	1	244218375	244218375	+	synonymous_variant	Silent	SNP	C	C	A	rs375286592	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	258	225	245	0	ENST00000358704.4:c.1299C>A	p.Thr433=	p.T433=	ENST00000358704	NM_205768.2	433	acC/acA	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS1622.1	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACCCTCAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	A:0.0002	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	rs375286592	2/2	nonpreferredpair	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,synonymous_variant,p.%3D,ENST00000358704,;	1448	245	483	SUCCESS
KDM4A	9682	.	GRCh37	1	44157956	44157956	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	49	113	0	ENST00000372396.3:c.2349G>T	p.Gly783=	p.G783=	ENST00000372396	NM_014663.2	783	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS491.1	2349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGGCCCT	NONE	.	.	hmmpanther:PTHR10694:SF36,hmmpanther:PTHR10694,Pfam_domain:PF13832	.	.	ENSP00000361473	.	16/22	.	.	.	.	.	.	.	.	.	16/22	nonpreferredpair	ENST00000372396	Transcript	.	.	ENSG00000066135	22978	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM4A_HUMAN	KDM4A	HGNC	B4DGH3_HUMAN	.	UPI000013D35A	SNV	KDM4A,synonymous_variant,p.%3D,ENST00000372396,;KDM4A,downstream_gene_variant,,ENST00000481296,;	2483	113	88	SUCCESS
BPIFB2	80341	.	GRCh37	20	31600638	31600638	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750355484	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	213	31	119	1	ENST00000170150.3:c.233G>A	p.Arg78His	p.R78H	ENST00000170150	NM_025227.2	78	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS13210.1	233	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCCTCC	NONE	.	.	Superfamily_domains:SSF55394,Pfam_domain:PF01273,hmmpanther:PTHR10504:SF68,hmmpanther:PTHR10504	.	.	ENSP00000170150	.	4/16	.	.	.	.	.	.	.	.	rs750355484	4/16	nonpreferredpair	ENST00000170150	Transcript	.	.	ENSG00000078898	16177	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(1)	.	BPIB2_HUMAN	BPIFB2	HGNC	.	.	UPI00000377B0	SNV	BPIFB2,missense_variant,p.Arg78His,ENST00000170150,;	428	120	244	SUCCESS
LAMA5	3911	.	GRCh37	20	60893664	60893664	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	22	168	0	ENST00000252999.3:c.7085A>C	p.Glu2362Ala	p.E2362A	ENST00000252999	NM_005560.4	2362	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS33502.1	7085	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTCCTCC	NONE	.	.	hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Pfam_domain:PF06008	.	.	ENSP00000252999	.	53/80	.	.	.	.	.	.	.	.	.	53/80	nonpreferredpair	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Glu2362Ala,ENST00000252999,;LAMA5,non_coding_transcript_exon_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000471042,;LAMA5,upstream_gene_variant,,ENST00000370691,;	7152	168	219	SUCCESS
ZNRF3	84133	.	GRCh37	22	29440871	29440871	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372884606	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	42	136	1	ENST00000544604.2:c.737G>A	p.Arg246His	p.R246H	ENST00000544604	NM_001206998.1	246	cGc/cAc	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS56225.1	737	RADIA|MUTECT|MUSE	.	GCGACGCAGTC	BUFFER|p.R145*|c.433C>T|4	byCluster	.	hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200	.	A:0	ENSP00000443824	.	5/9	.	.	.	.	.	.	.	.	rs372884606	5/9	nonpreferredpair	ENST00000544604	Transcript	.	.	ENSG00000183579	18126	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.15)	.	ZNRF3_HUMAN	ZNRF3	HGNC	.	.	UPI0000EE5944	SNV	ZNRF3,missense_variant,p.Arg146His,ENST00000406323,;ZNRF3,missense_variant,p.Arg146His,ENST00000332811,;ZNRF3,missense_variant,p.Arg146His,ENST00000402174,;ZNRF3,missense_variant,p.Arg246His,ENST00000544604,;	912	137	147	SUCCESS
AMER3	205147	.	GRCh37	2	131522049	131522049	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140869723	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	25	101	0	ENST00000321420.4:c.2404C>T	p.Arg802Trp	p.R802W	ENST00000321420		802	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS2164.1	2404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGGTGG	NONE	byCluster	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	.	T:0.0001	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	rs140869723	2/2	nonpreferredpair	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,missense_variant,p.Arg802Trp,ENST00000321420,;AMER3,missense_variant,p.Arg802Trp,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	2514	101	112	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098809	178098809	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1057519923	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	47	0	ENST00000397062.3:c.236A>T	p.Glu79Val	p.E79V	ENST00000397062	NM_006164.4	79	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS42782.1	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTCTTCA	BUFFER|p.E82D|c.246A>C|3,BUFFER|p.E82D|c.246A>T|6,BUFFER|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81D|c.242G>A|6,BUFFER|p.G81V|c.242G>T|7,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11,BUFFER|p.D77V|c.230A>T|5,BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM1529470,COSM132960	2/5	nonpreferredpair	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Glu63Val,ENST00000449627,;NFE2L2,missense_variant,p.Glu63Val,ENST00000423513,;NFE2L2,missense_variant,p.Glu79Val,ENST00000397062,;NFE2L2,missense_variant,p.Glu63Val,ENST00000446151,;NFE2L2,missense_variant,p.Glu63Val,ENST00000588123,;NFE2L2,missense_variant,p.Glu78Val,ENST00000586532,;NFE2L2,missense_variant,p.Glu63Val,ENST00000421929,;NFE2L2,missense_variant,p.Glu63Val,ENST00000464747,;NFE2L2,missense_variant,p.Glu63Val,ENST00000448782,;NFE2L2,missense_variant,p.Glu63Val,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	791	47	58	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098810	178098810	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	46	0	ENST00000397062.3:c.235G>T	p.Glu79Ter	p.E79*	ENST00000397062	NM_006164.4	79	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42782.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCTTCAT	BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132851,COSM120958,COSM1631472	2/5	nonpreferredpair	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,stop_gained,p.Glu63Ter,ENST00000449627,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000423513,;NFE2L2,stop_gained,p.Glu79Ter,ENST00000397062,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000446151,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000588123,;NFE2L2,stop_gained,p.Glu78Ter,ENST00000586532,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000421929,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000464747,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000448782,;NFE2L2,stop_gained,p.Glu63Ter,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	790	46	58	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209217426	209217426	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	56	0	ENST00000264380.4:c.5765del	p.Lys1922ArgfsTer11	p.K1922Rfs*11	ENST00000264380	NM_015040.3	1922	Aag/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS2382.1	5764	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTATAAGAAC	NONE	.	.	Superfamily_domains:SSF56104,SMART_domains:SM00330,Pfam_domain:PF01504,Gene3D:2gk9B01,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353,PROSITE_profiles:PS51455	.	.	ENSP00000264380	.	39/42	.	.	.	.	.	.	.	.	.	39/42	nonpreferredpair	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	deletion	PIKFYVE,frameshift_variant,p.Lys1922ArgfsTer11,ENST00000264380,;	5922	56	54	SUCCESS
SPEG	10290	.	GRCh37	2	220342149	220342149	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	113	0	ENST00000312358.7:c.4711G>T	p.Glu1571Ter	p.E1571*	ENST00000312358	NM_005876.4	1571	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42824.1	4711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGAGTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	20/41	.	.	.	.	.	.	.	.	.	20/41	nonpreferredpair	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,stop_gained,p.Glu1571Ter,ENST00000312358,;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000485069,;	4843	113	111	SUCCESS
DOCK10	55619	.	GRCh37	2	225653873	225653873	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	51	95	0	ENST00000258390.7:c.5326G>T	p.Gly1776Ter	p.G1776*	ENST00000258390	NM_014689.2	1776	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS46528.1	5326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCCATAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	48/56	.	.	.	.	.	.	.	.	.	48/56	nonpreferredpair	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,stop_gained,p.Gly1776Ter,ENST00000258390,;DOCK10,stop_gained,p.Gly1770Ter,ENST00000409592,;DOCK10,upstream_gene_variant,,ENST00000535663,;DOCK10,downstream_gene_variant,,ENST00000492251,;	5394	95	103	SUCCESS
SF3B14	0	.	GRCh37	2	24299188	24299188	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs35100357	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	58	0	ENST00000233468.4:c.-89C>A		p.*30*	ENST00000233468	NM_016047.3			0	.	A:0.0091	.	A:0	.	T	.	protein_coding	YES	CCDS1707.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGACATC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	.	A:0	.	ENSP00000233468	A:0	1/4	.	.	.	.	.	.	.	.	rs35100357	1/4	nonpreferredpair	ENST00000233468	Transcript	.	A:0.0024	ENSG00000115128	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PM14_HUMAN	SF3B14	Uniprot_gn	Q53TM1_HUMAN	.	UPI0000000963	SNV	SF3B14,5_prime_UTR_variant,,ENST00000233468,;TP53I3,downstream_gene_variant,,ENST00000313482,;TP53I3,downstream_gene_variant,,ENST00000238721,;TP53I3,downstream_gene_variant,,ENST00000335934,;TP53I3,downstream_gene_variant,,ENST00000407482,;TP53I3,downstream_gene_variant,,ENST00000413037,;TP53I3,downstream_gene_variant,,ENST00000417886,;FAM228B,upstream_gene_variant,,ENST00000461972,;FAM228B,upstream_gene_variant,,ENST00000460686,;FAM228B,upstream_gene_variant,,ENST00000468799,;FAM228B,upstream_gene_variant,,ENST00000469867,;FAM228B,upstream_gene_variant,,ENST00000486967,;SF3B14,non_coding_transcript_exon_variant,,ENST00000478050,;	126	58	74	SUCCESS
CLHC1	130162	.	GRCh37	2	55402927	55402927	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	51	103	0	ENST00000401408.1:c.1760A>G	p.Ter587TrpextTer7	p.*587Wext*7	ENST00000401408	NM_152385.2	587	tAg/tGg	0	.	.	.	.	.	C	*/W	protein_coding	YES	CCDS33201.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTACCAA	NONE	.	.	.	.	.	ENSP00000384869	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000401408	Transcript	.	.	ENSG00000162994	26453	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLHC1_HUMAN	CLHC1	HGNC	E7EVC5_HUMAN,D6W5C8_HUMAN,B5MC48_HUMAN	.	UPI00004DEC65	SNV	CLHC1,stop_lost,p.Ter587TrpextTer7,ENST00000407122,;CLHC1,stop_lost,p.Ter465TrpextTer7,ENST00000406076,;CLHC1,stop_lost,p.Ter587TrpextTer7,ENST00000401408,;CLHC1,stop_lost,p.Ter138TrpextTer7,ENST00000406437,;CLHC1,non_coding_transcript_exon_variant,,ENST00000494539,;CLHC1,downstream_gene_variant,,ENST00000487320,;CLHC1,3_prime_UTR_variant,,ENST00000428621,;CLHC1,downstream_gene_variant,,ENST00000411884,;	2106	103	121	SUCCESS
ALMS1	7840	.	GRCh37	2	73681090	73681090	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	8	152	0	ENST00000264448.6:c.7433T>A	p.Leu2478Gln	p.L2478Q	ENST00000264448	NM_015120.4	2478	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS42697.1	7433	MUTECT|MUSE	.	TTCACTGGCTG	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	nonpreferredpair	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Leu2478Gln,ENST00000377715,;ALMS1,missense_variant,p.Leu2436Gln,ENST00000409009,;ALMS1,missense_variant,p.Leu2478Gln,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,missense_variant,p.Leu756Gln,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	7544	152	175	SUCCESS
DZIP3	9666	.	GRCh37	3	108373044	108373044	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	41	122	0	ENST00000361582.3:c.2086C>T	p.His696Tyr	p.H696Y	ENST00000361582	NM_014648.3	696	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS2952.1	2086	RADIA|MUTECT|MUSE	.	ATCCACACTCA	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	19/33	.	.	.	.	.	.	.	.	.	19/33	nonpreferredpair	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated_low_confidence(0.31)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.His696Tyr,ENST00000463306,;DZIP3,missense_variant,p.His696Tyr,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	2316	122	140	SUCCESS
SACM1L	22908	.	GRCh37	3	45730900	45730900	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	136	0	ENST00000389061.5:c.-58G>T		p.*20*	ENST00000389061	NM_014016.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGAGGTG	NONE	.	.	.	.	.	ENSP00000373713	.	1/20	.	.	.	.	.	.	.	.	.	1/20	nonpreferredpair	ENST00000389061	Transcript	.	.	ENSG00000211456	17059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAC1_HUMAN	SACM1L	HGNC	E9PGZ4_HUMAN,C9JV50_HUMAN	.	UPI000006EAA5	SNV	SACM1L,5_prime_UTR_variant,,ENST00000438671,;SACM1L,5_prime_UTR_variant,,ENST00000389061,;SACM1L,5_prime_UTR_variant,,ENST00000418611,;LIMD1,downstream_gene_variant,,ENST00000273317,;SACM1L,upstream_gene_variant,,ENST00000541314,;LIMD1-AS1,upstream_gene_variant,,ENST00000427644,;LIMD1-AS1,upstream_gene_variant,,ENST00000429798,;SACM1L,intron_variant,,ENST00000464524,;SACM1L,upstream_gene_variant,,ENST00000478586,;SACM1L,5_prime_UTR_variant,,ENST00000441228,;SACM1L,5_prime_UTR_variant,,ENST00000455997,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463237,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463347,;SACM1L,upstream_gene_variant,,ENST00000445499,;	147	136	91	SUCCESS
PDE12	201626	.	GRCh37	3	57542702	57542702	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	37	110	0	ENST00000311180.8:c.596A>C	p.Lys199Thr	p.K199T	ENST00000311180	NM_177966.5	199	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS33772.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATAAGGAAG	NONE	.	.	hmmpanther:PTHR12121:SF37,hmmpanther:PTHR12121	.	.	ENSP00000309142	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000311180	Transcript	.	.	ENSG00000174840	25386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.01)	.	PDE12_HUMAN	PDE12	HGNC	.	.	UPI000049DFA7	SNV	PDE12,missense_variant,p.Lys199Thr,ENST00000311180,;PDE12,missense_variant,p.Lys199Thr,ENST00000487257,;	699	110	107	SUCCESS
LRIG1	26018	.	GRCh37	3	66465346	66465346	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	91	1	ENST00000273261.3:c.645A>G		p.X215_splice	ENST00000273261	NM_015541.2	215	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS33783.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTTGTGT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,SMART_domains:SM00365,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS51450	.	.	ENSP00000273261	.	5/19	.	.	.	.	.	.	.	.	.	5/19	nonpreferredpair	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,synonymous_variant,p.%3D,ENST00000383703,;LRIG1,synonymous_variant,p.%3D,ENST00000273261,;LRIG1,splice_region_variant,,ENST00000497721,;LRIG1,splice_region_variant,,ENST00000498287,;LRIG1,downstream_gene_variant,,ENST00000475366,;LRIG1,upstream_gene_variant,,ENST00000491821,;	1170	92	104	SUCCESS
ZNF654	55279	.	GRCh37	3	88189316	88189316	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	73	0	ENST00000309495.5:c.856G>A	p.Ala286Thr	p.A286T	ENST00000309495	NM_018293.2	286	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46874.1	856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGCCCAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR15507,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000312141	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000309495	Transcript	.	.	ENSG00000175105	25612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.11)	.	ZN654_HUMAN	ZNF654	HGNC	.	.	UPI0000DD0307	SNV	ZNF654,missense_variant,p.Ala286Thr,ENST00000309495,;CGGBP1,intron_variant,,ENST00000462901,;CGGBP1,intron_variant,,ENST00000467332,;RP11-159G9.5,downstream_gene_variant,,ENST00000473136,;RP11-159G9.5,downstream_gene_variant,,ENST00000498458,;	1063	73	65	SUCCESS
ZNF827	152485	.	GRCh37	4	146695657	146695657	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	158	0	ENST00000508784.1:c.2860+1G>C		p.X954_splice	ENST00000508784		954		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34072.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACCTGTG	NONE	.	.	.	.	.	ENSP00000368761	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	HIGH	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,splice_donor_variant,,ENST00000511659,;ZNF827,splice_donor_variant,,ENST00000508784,;ZNF827,splice_donor_variant,,ENST00000379448,;ZNF827,splice_donor_variant,,ENST00000513320,;C4orf51,downstream_gene_variant,,ENST00000510096,;ZNF827,splice_donor_variant,,ENST00000515386,;	.	158	136	SUCCESS
FRG1	2483	.	GRCh37	4	190878650	190878650	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	511	13	532	0	ENST00000226798.4:c.530T>C	p.Met177Thr	p.M177T	ENST00000226798	NM_004477.2	177	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS34121.1	530	MUTECT|MUSE	.	AGAAATGATCA	BUFFER|p.E176*|c.526G>T|3,BUFFER|p.I178M|c.534C>G|4	.	.	hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Gene3D:2.80.10.50,Pfam_domain:PF06229,Superfamily_domains:SSF50405	.	.	ENSP00000226798	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000226798	Transcript	1	.	ENSG00000109536	3954	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.607)	.	deleterious(0.03)	.	FRG1_HUMAN	FRG1	HGNC	E9PRR7_HUMAN	.	UPI000012AC04	SNV	FRG1,missense_variant,p.Met114Thr,ENST00000531991,;FRG1,missense_variant,p.Met177Thr,ENST00000226798,;FRG1,missense_variant,p.Met49Thr,ENST00000524583,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,downstream_gene_variant,,ENST00000533157,;FRG1,upstream_gene_variant,,ENST00000507103,;	752	532	525	SUCCESS
HTT	3064	.	GRCh37	4	3123007	3123007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	40	81	0	ENST00000355072.5:c.1121C>A	p.Thr374Asn	p.T374N	ENST00000355072	NM_002111.6	374	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS43206.1	1121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGACCGGAG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	9/67	.	.	.	.	.	.	.	.	.	9/67	nonpreferredpair	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.414)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Thr374Asn,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000506137,;HTT,upstream_gene_variant,,ENST00000512909,;	1266	81	103	SUCCESS
WDR19	57728	.	GRCh37	4	39229836	39229836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	50	0	ENST00000399820.3:c.1636G>T	p.Asp546Tyr	p.D546Y	ENST00000399820	NM_025132.3	546	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS47042.1	1636	MUTECT|MUSE	.	TCAATGACGCT	NONE	.	.	Superfamily_domains:SSF82171,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	.	.	ENSP00000382717	.	16/37	.	.	.	.	.	.	.	.	.	16/37	nonpreferredpair	ENST00000399820	Transcript	1	.	ENSG00000157796	18340	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,missense_variant,p.Asp386Tyr,ENST00000288634,;WDR19,missense_variant,p.Asp546Tyr,ENST00000399820,;WDR19,intron_variant,,ENST00000511729,;WDR19,upstream_gene_variant,,ENST00000515631,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,upstream_gene_variant,,ENST00000507228,;	1790	50	56	SUCCESS
UGT2B4	7363	.	GRCh37	4	70352328	70352330	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	AAG	AAG	-	rs1317780715	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	103	0	ENST00000305107.6:c.1087_1089del	p.Leu363del	p.L363del	ENST00000305107	NM_021139.2	363	CTT/-	0	.	.	.	.	.	-	L/-	protein_coding	YES	CCDS43234.1	1087-1089	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTACCAAGAAGAT	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,PROSITE_patterns:PS00375,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,inframe_deletion,p.Leu363del,ENST00000305107,;UGT2B4,inframe_deletion,p.Leu363del,ENST00000512583,;UGT2B4,inframe_deletion,p.Leu227del,ENST00000381096,;UGT2B4,splice_region_variant,,ENST00000506580,;UGT2B4,splice_region_variant,,ENST00000502655,;UGT2B4,downstream_gene_variant,,ENST00000503836,;	1134-1136	103	82	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140307101	140307101	+	synonymous_variant	Silent	SNP	C	C	T	rs782661477	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	5	107	0	ENST00000253807.2:c.624C>T	p.Gly208=	p.G208=	ENST00000253807	NM_018898.3	208	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4241.1	624	MUTECT|MUSE	.	GACGGCGGGCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,PROSITE_profiles:PS50268	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	rs782661477	1/4	nonpreferredpair	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,synonymous_variant,p.%3D,ENST00000253807,;PCDHAC1,synonymous_variant,p.%3D,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	624	107	133	SUCCESS
SLIT3	6586	.	GRCh37	5	168244406	168244406	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201344625	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	57	151	0	ENST00000519560.1:c.692G>T	p.Arg231Leu	p.R231L	ENST00000519560	NM_003062.3	231	cGa/cTa	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS4369.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCGCAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,SMART_domains:SM00082,SMART_domains:SM00368	T:0.001	.	ENSP00000430333	T:0	8/36	.	.	.	.	.	.	.	.	rs201344625	8/36	nonpreferredpair	ENST00000519560	Transcript	.	T:0.0002	ENSG00000184347	11087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	T:0	deleterious(0)	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,missense_variant,p.Arg231Leu,ENST00000332966,;SLIT3,missense_variant,p.Arg231Leu,ENST00000519560,;SLIT3,missense_variant,p.Arg231Leu,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521150,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;	1112	151	176	SUCCESS
FLT4	2324	.	GRCh37	5	180048556	180048556	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	54	179	0	ENST00000261937.6:c.2006A>G	p.Tyr669Cys	p.Y669C	ENST00000261937	NM_182925.4	669	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4457.1	2006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTACTTC	NONE	.	.	SMART_domains:SM00409,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000261937	.	13/30	.	.	.	.	.	.	.	.	.	13/30	nonpreferredpair	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,missense_variant,p.Tyr669Cys,ENST00000502649,;FLT4,missense_variant,p.Tyr669Cys,ENST00000261937,;FLT4,missense_variant,p.Tyr669Cys,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	2085	179	161	SUCCESS
CDH9	1007	.	GRCh37	5	26881251	26881251	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	97	0	ENST00000231021.4:c.2364A>C	p.Arg788=	p.R788=	ENST00000231021	NM_016279.3	788	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3893.1	2364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCTCGGTC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,synonymous_variant,p.%3D,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2537	97	139	SUCCESS
GZMA	3001	.	GRCh37	5	54401400	54401400	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	31	0	ENST00000274306.6:c.169G>A	p.Ala57Thr	p.A57T	ENST00000274306	NM_006144.3	57	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3965.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCTTTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF48,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000274306	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000274306	Transcript	.	.	ENSG00000145649	4708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.29)	.	GRAA_HUMAN	GZMA	HGNC	.	.	UPI000013D9FC	SNV	GZMA,missense_variant,p.Ala57Thr,ENST00000274306,;	204	31	40	SUCCESS
KIAA0947	0	.	GRCh37	5	5461240	5461240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	87	0	ENST00000296564.7:c.1793A>G	p.Asp598Gly	p.D598G	ENST00000296564	NM_015325.2	598	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47187.1	1793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGATACTC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	nonpreferredpair	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.5)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Asp598Gly,ENST00000296564,;	2015	87	96	SUCCESS
ERBB2IP	0	.	GRCh37	5	65349290	65349290	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760228126	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	85	0	ENST00000284037.5:c.2144C>T	p.Ser715Leu	p.S715L	ENST00000284037	NM_001253697.1	715	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS58952.1	2144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCAACAG	NONE	.	.	.	.	.	ENSP00000426632	.	21/26	.	.	.	.	.	.	.	.	rs760228126,COSM3617491,COSM3617490,COSM3617489	21/26	nonpreferredpair	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.003)	.	tolerated_low_confidence(0.07)	0,1,1,1	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380935,;ERBB2IP,missense_variant,p.Ser711Leu,ENST00000511297,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000284037,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000508515,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380943,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380938,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380936,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000506030,;ERBB2IP,missense_variant,p.Ser715Leu,ENST00000380939,;ERBB2IP,intron_variant,,ENST00000416865,;ERBB2IP,upstream_gene_variant,,ENST00000511671,;ERBB2IP,upstream_gene_variant,,ENST00000503913,;	2235	85	95	SUCCESS
ARID1B	57492	.	GRCh37	6	157522055	157522055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	79	174	0	ENST00000346085.5:c.4327A>G	p.Ile1443Val	p.I1443V	ENST00000346085	NM_020732.3	1443	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55072.1	4327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGAATCCCG	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	18/20	.	.	.	.	.	.	.	.	.	18/20	nonpreferredpair	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Ile1483Val,ENST00000367148,;ARID1B,missense_variant,p.Ile1430Val,ENST00000350026,;ARID1B,missense_variant,p.Ile952Val,ENST00000414678,;ARID1B,missense_variant,p.Ile1425Val,ENST00000275248,;ARID1B,missense_variant,p.Ile1443Val,ENST00000346085,;	4328	174	188	SUCCESS
LPA	4018	.	GRCh37	6	161016508	161016508	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766717857	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	27	108	0	ENST00000316300.5:c.3347C>A	p.Thr1116Asn	p.T1116N	ENST00000316300		1116	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS43523.1	3347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGTGTAA	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24261,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000395608	.	22/40	.	.	.	.	.	.	.	.	rs766717857	22/40	nonpreferredpair	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,missense_variant,p.Thr1116Asn,ENST00000316300,;LPA,missense_variant,p.Thr1116Asn,ENST00000447678,;	3468	108	127	SUCCESS
NFKBIE	4794	.	GRCh37	6	44228252	44228252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	10	168	0	ENST00000275015.5:c.1133C>T	p.Thr378Ile	p.T378I	ENST00000275015	NM_004556.2	378	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34463.1	1133	MUTECT|MUSE	.	GAAGGGTGGCA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF37,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000275015	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000275015	Transcript	.	.	ENSG00000146232	7799	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.643)	.	deleterious(0.04)	.	IKBE_HUMAN	NFKBIE	HGNC	Q96F31_HUMAN,Q7LC14_HUMAN,H0Y4W4_HUMAN	.	UPI000013DA3C	SNV	NFKBIE,missense_variant,p.Thr378Ile,ENST00000275015,;SLC35B2,upstream_gene_variant,,ENST00000538577,;NFKBIE,upstream_gene_variant,,ENST00000443607,;SLC35B2,upstream_gene_variant,,ENST00000537814,;SLC35B2,upstream_gene_variant,,ENST00000393812,;SLC35B2,upstream_gene_variant,,ENST00000393810,;SLC35B2,upstream_gene_variant,,ENST00000495706,;NFKBIE,3_prime_UTR_variant,,ENST00000477930,;	1133	168	216	SUCCESS
THSD7A	221981	.	GRCh37	7	11446000	11446000	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	48	101	1	ENST00000423059.4:c.4164T>C	p.Cys1388=	p.C1388=	ENST00000423059	NM_015204.2	1388	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS47543.1	4164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCACAGAA	NONE	.	.	hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000406482	.	22/28	.	.	.	.	.	.	.	.	.	22/28	nonpreferredpair	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,synonymous_variant,p.%3D,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;AC004160.4,upstream_gene_variant,,ENST00000425837,;	4416	102	135	SUCCESS
AKR1D1	6718	.	GRCh37	7	137791378	137791378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	60	0	ENST00000242375.3:c.604C>A	p.Gln202Lys	p.Q202K	ENST00000242375	NM_005989.3	202	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5846.1	604	MUTECT|MUSE	.	TCACCCAGCCA	NONE	.	.	hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000242375	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000242375	Transcript	.	.	ENSG00000122787	388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.326)	.	deleterious(0)	.	AK1D1_HUMAN	AKR1D1	HGNC	C4PL35_HUMAN	.	UPI0000125764	SNV	AKR1D1,missense_variant,p.Gln202Lys,ENST00000432161,;AKR1D1,missense_variant,p.Gln161Lys,ENST00000411726,;AKR1D1,missense_variant,p.Gln202Lys,ENST00000242375,;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;	646	60	52	SUCCESS
HIPK2	28996	.	GRCh37	7	139416619	139416619	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748732904	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	79	299	0	ENST00000406875.3:c.215C>T	p.Pro72Leu	p.P72L	ENST00000406875	NM_022740.4	72	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	.	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGGCAAG	NONE	byFrequency	.	hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058	.	.	ENSP00000385571	.	2/15	.	.	.	.	.	.	.	.	rs748732904	2/15	nonpreferredpair	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.31)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Pro72Leu,ENST00000342645,;HIPK2,missense_variant,p.Pro72Leu,ENST00000428878,;HIPK2,missense_variant,p.Pro72Leu,ENST00000406875,;	310	299	370	SUCCESS
DSCC1	79075	.	GRCh37	8	120862619	120862620	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	120	25	119	0	ENST00000313655.4:c.486+2dup		p.X162_splice	ENST00000313655	NM_024094.2	162		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6330.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCTTACTTT	NONE	.	.	.	.	.	ENSP00000322180	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000313655	Transcript	.	.	ENSG00000136982	24453	.	.	LOW	3/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCC1_HUMAN	DSCC1	HGNC	.	.	UPI000006D95C	insertion	DSCC1,splice_region_variant,,ENST00000313655,;DSCC1,downstream_gene_variant,,ENST00000521795,;	.	119	145	SUCCESS
OPLAH	26873	.	GRCh37	8	145106719	145106719	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	30	0	ENST00000426825.1:c.3631C>G	p.Pro1211Ala	p.P1211A	ENST00000426825	NM_017570.3	1211	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	.	3631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCTCGC	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF02538	.	.	ENSP00000475943	.	27/28	.	.	.	.	.	.	.	.	.	27/28	nonpreferredpair	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.18)	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,missense_variant,p.Pro1211Ala,ENST00000426825,;SPATC1,downstream_gene_variant,,ENST00000377470,;SPATC1,downstream_gene_variant,,ENST00000447830,;CTD-3065J16.6,downstream_gene_variant,,ENST00000561181,;CTD-3065J16.6,downstream_gene_variant,,ENST00000528912,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000531027,;OPLAH,downstream_gene_variant,,ENST00000527993,;	3713	30	41	SUCCESS
ESRP1	54845	.	GRCh37	8	95680361	95680361	+	synonymous_variant	Silent	SNP	C	C	T	rs748528710	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	123	129	0	ENST00000433389.2:c.1116C>T	p.Asp372=	p.D372=	ENST00000433389	NM_001034915.2	372	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS47897.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACGCTTT	NONE	byFrequency	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF14259,Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,PROSITE_profiles:PS50102	.	.	ENSP00000405738	.	10/16	.	.	.	.	.	.	.	.	rs748528710	10/16	nonpreferredpair	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,synonymous_variant,p.%3D,ENST00000433389,;ESRP1,synonymous_variant,p.%3D,ENST00000519505,;ESRP1,synonymous_variant,p.%3D,ENST00000517610,;ESRP1,synonymous_variant,p.%3D,ENST00000454170,;ESRP1,synonymous_variant,p.%3D,ENST00000423620,;ESRP1,synonymous_variant,p.%3D,ENST00000358397,;ESRP1,downstream_gene_variant,,ENST00000522756,;ESRP1,non_coding_transcript_exon_variant,,ENST00000517556,;	1306	129	208	SUCCESS
BMX	660	.	GRCh37	X	15560134	15560134	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	84	86	0	ENST00000342014.6:c.1424T>A	p.Phe475Tyr	p.F475Y	ENST00000342014	NM_001721.6	475	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS14168.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATTCTATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000350224	.	15/19	.	.	.	.	.	.	.	.	.	15/19	nonpreferredpair	ENST00000357607	Transcript	.	.	ENSG00000102010	1079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	BMX_HUMAN	BMX	HGNC	.	.	UPI0000000DFF	SNV	BMX,missense_variant,p.Phe475Tyr,ENST00000348343,;BMX,missense_variant,p.Phe475Tyr,ENST00000357607,;BMX,missense_variant,p.Phe475Tyr,ENST00000342014,;BMX,downstream_gene_variant,,ENST00000489983,;	1612	86	111	SUCCESS
CYSLTR1	10800	.	GRCh37	X	77528826	77528827	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	64	0	ENST00000373304.3:c.417dup	p.Ala140SerfsTer28	p.A140Sfs*28	ENST00000373304	NM_001282188.1	139	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS14439.1	417-418	VARSCANI*|PINDEL	.	CCTGGCTTTTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF12,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01533,Prints_domain:PR00237	.	.	ENSP00000362401	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000373304	Transcript	.	.	ENSG00000173198	17451	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLTR1_HUMAN	CYSLTR1	HGNC	Q38Q91_HUMAN,Q38Q88_HUMAN	.	UPI000003ACDF	insertion	CYSLTR1,frameshift_variant,p.Ala140SerfsTer28,ENST00000373304,;	710-711	64	93	SUCCESS
NRAP	4892	.	GRCh37	10	115374663	115374663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	67	135	0	ENST00000359988.3:c.3121T>A	p.Tyr1041Asn	p.Y1041N	ENST00000359988	NM_001261463.1	1041	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS7579.1	3121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGCCAC	NONE	.	.	SMART_domains:SM00227,hmmpanther:PTHR11039,PROSITE_profiles:PS51216	.	.	ENSP00000353078	.	28/42	.	.	.	.	.	.	.	.	.	28/42	PASS	ENST00000359988	Transcript	.	.	ENSG00000197893	7988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated(0.35)	.	NRAP_HUMAN	NRAP	HGNC	.	.	UPI00001F9739	SNV	NRAP,missense_variant,p.Tyr1014Asn,ENST00000369360,;NRAP,missense_variant,p.Tyr1049Asn,ENST00000369358,;NRAP,missense_variant,p.Tyr1006Asn,ENST00000360478,;NRAP,missense_variant,p.Tyr1041Asn,ENST00000359988,;	3366	135	216	SUCCESS
LRRTM3	347731	.	GRCh37	10	68686847	68686847	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	46	0	ENST00000361320.4:c.173G>C	p.Ser58Thr	p.S58T	ENST00000361320	NM_178011.3	58	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS7270.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGTATAT	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,missense_variant,p.Ser58Thr,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	751	46	54	SUCCESS
SART3	9733	.	GRCh37	12	108929239	108929239	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	21	87	0	ENST00000228284.3:c.1452A>G	p.Arg484=	p.R484=	ENST00000228284	NM_014706.3	484	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS9117.1	1452	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTCGAGC	NONE	.	.	Superfamily_domains:SSF48452,hmmpanther:PTHR23269,hmmpanther:PTHR23269:SF0	.	.	ENSP00000228284	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000228284	Transcript	.	.	ENSG00000075856	16860	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SART3_HUMAN	SART3	HGNC	H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN	.	UPI000006D72B	SNV	SART3,synonymous_variant,p.%3D,ENST00000228284,;SART3,synonymous_variant,p.%3D,ENST00000431469,;SART3,synonymous_variant,p.%3D,ENST00000546815,;SART3,3_prime_UTR_variant,,ENST00000547528,;SART3,3_prime_UTR_variant,,ENST00000546728,;SART3,non_coding_transcript_exon_variant,,ENST00000546808,;SART3,non_coding_transcript_exon_variant,,ENST00000548077,;SART3,downstream_gene_variant,,ENST00000548119,;SART3,upstream_gene_variant,,ENST00000547196,;SART3,upstream_gene_variant,,ENST00000548582,;	1687	87	146	SUCCESS
SBNO1	55206	.	GRCh37	12	123815842	123815842	+	synonymous_variant	Silent	SNP	C	C	T	rs74679372	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	58	0	ENST00000420886.2:c.990G>A	p.Thr330=	p.T330=	ENST00000420886	NM_001167856.1	330	acG/acA	0	A:0.0007	A:0.0053	.	A:0	.	T	T	protein_coding	YES	CCDS53844.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATCGTCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8,Pfam_domain:PF13872,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000387361	A:0	7/31	.	.	.	.	.	.	.	.	rs74679372	7/31	PASS	ENST00000420886	Transcript	.	A:0.0014	ENSG00000139697	22973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,synonymous_variant,p.%3D,ENST00000602398,;SBNO1,synonymous_variant,p.%3D,ENST00000602750,;SBNO1,synonymous_variant,p.%3D,ENST00000420886,;SBNO1,synonymous_variant,p.%3D,ENST00000267176,;	990	58	94	SUCCESS
WNT1	7471	.	GRCh37	12	49374348	49374348	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	83	0	ENST00000293549.3:c.500G>T	p.Trp167Leu	p.W167L	ENST00000293549	NM_005430.3	167	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS8776.1	500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGGGGGG	NONE	.	.	hmmpanther:PTHR12027:SF80,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000293549	.	3/4	.	.	.	.	.	.	.	.	COSM300509	3/4	PASS	ENST00000293549	Transcript	.	.	ENSG00000125084	12774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	WNT1_HUMAN	WNT1	HGNC	.	.	UPI0000051043	SNV	WNT1,missense_variant,p.Trp167Leu,ENST00000293549,;RNU6-940P,downstream_gene_variant,,ENST00000363433,;	536	83	124	SUCCESS
OR4M2	390538	.	GRCh37	15	22369299	22369299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	64	245	0	ENST00000332663.2:c.724T>A	p.Cys242Ser	p.C242S	ENST00000332663	NM_001004719.2	242	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS32172.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGCTAT	BUFFER|p.M239V|c.715A>G|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,missense_variant,p.Cys242Ser,ENST00000332663,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	822	245	296	SUCCESS
HSF5	124535	.	GRCh37	17	56565433	56565434	+	inframe_insertion	In_Frame_Ins	INS	-	-	CGGCCC	rs550036152	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	18	0	ENST00000323777.3:c.197_202dup	p.Gly66_Ala67dup	p.G66_A67dup	ENST00000323777	NM_001080439.1	66	gag/gGGGCCGag	0	CGGCCC:0.0038	CGGCCC:0.0106	.	CGGCCC:0.0058	.	CGGCCC	E/GAE	protein_coding	YES	CCDS32690.1	202-203	INDELOCATOR|VARSCANI	.	CGGGCTCGGCC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF138,Gene3D:1.10.10.10,SMART_domains:SM00415,Superfamily_domains:SSF46785	CGGCCC:0	CGGCCC:0.0043	ENSP00000313243	CGGCCC:0.004	1/6	.	.	.	.	.	.	.	.	rs550036152	1/6	common_in_exac	ENST00000323777	Transcript	.	CGGCCC:0.0046	ENSG00000176160	26862	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	CGGCCC:0.001	.	.	HSF5_HUMAN	HSF5	HGNC	.	.	UPI0000161929	insertion	HSF5,inframe_insertion,p.Gly66_Ala67dup,ENST00000323777,;MTMR4,downstream_gene_variant,,ENST00000323456,;MTMR4,downstream_gene_variant,,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000578259,;	312-313	18	26	SUCCESS
SAMD4B	55095	.	GRCh37	19	39866423	39866423	+	synonymous_variant	Silent	SNP	C	C	T	rs375237719	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	37	0	ENST00000314471.6:c.801C>T	p.His267=	p.H267=	ENST00000314471	NM_018028.2	267	caC/caT	0	T:0	.	.	.	.	T	H	protein_coding	YES	CCDS33020.1	801	MUTECT|MUSE	.	GATCACGCACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF9	.	T:0.0005	ENSP00000317224	.	7/16	.	.	.	.	.	.	.	.	rs375237719	7/16	PASS	ENST00000314471	Transcript	.	.	ENSG00000179134	25492	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMAG2_HUMAN	SAMD4B	HGNC	M0QY61_HUMAN,M0QXV2_HUMAN	.	UPI00001D8165	SNV	SAMD4B,synonymous_variant,p.%3D,ENST00000598913,;SAMD4B,synonymous_variant,p.%3D,ENST00000596368,;SAMD4B,synonymous_variant,p.%3D,ENST00000314471,;SAMD4B,intron_variant,,ENST00000600018,;SAMD4B,upstream_gene_variant,,ENST00000598605,;SAMD4B,upstream_gene_variant,,ENST00000595476,;SAMD4B,downstream_gene_variant,,ENST00000596319,;	1836	37	53	SUCCESS
ARHGEF1	9138	.	GRCh37	19	42409130	42409130	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	38	0	ENST00000354532.3:c.2191T>G	p.Trp731Gly	p.W731G	ENST00000354532	NM_004706.3	731	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS12590.1	2236	MUTECT|MUSE|VARSCANS	.	TTACCTGGGAC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF6,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000337261	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000337665	Transcript	.	.	ENSG00000076928	681	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.928)	.	tolerated(0.13)	.	ARHG1_HUMAN	ARHGEF1	HGNC	.	.	UPI0000231C94	SNV	ARHGEF1,missense_variant,p.Trp787Gly,ENST00000599846,;ARHGEF1,missense_variant,p.Trp746Gly,ENST00000337665,;ARHGEF1,missense_variant,p.Trp489Gly,ENST00000599589,;ARHGEF1,missense_variant,p.Trp698Gly,ENST00000347545,;ARHGEF1,missense_variant,p.Trp731Gly,ENST00000354532,;ARHGEF1,missense_variant,p.Trp186Gly,ENST00000595723,;ARHGEF1,missense_variant,p.Trp713Gly,ENST00000378152,;ARHGEF1,downstream_gene_variant,,ENST00000594258,;ARHGEF1,downstream_gene_variant,,ENST00000594521,;CTD-2575K13.6,downstream_gene_variant,,ENST00000597630,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000595897,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600274,;ARHGEF1,intron_variant,,ENST00000600517,;ARHGEF1,upstream_gene_variant,,ENST00000598444,;ARHGEF1,upstream_gene_variant,,ENST00000593609,;ARHGEF1,downstream_gene_variant,,ENST00000594044,;ARHGEF1,upstream_gene_variant,,ENST00000598587,;CTD-2575K13.6,downstream_gene_variant,,ENST00000598387,;	2256	38	51	SUCCESS
MYH14	79784	.	GRCh37	19	50794186	50794186	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369826983	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	80	149	0	ENST00000376970.2:c.4984C>T	p.Arg1662Cys	p.R1662C	ENST00000376970	NM_024729.3	1662	Cgc/Tgc	0	T:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS54295.1	5008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGCACT	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	T:0	ENSP00000470298	.	36/43	.	.	.	.	.	.	.	.	rs369826983	36/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Arg1670Cys,ENST00000440075,;MYH14,missense_variant,p.Arg1670Cys,ENST00000601313,;MYH14,missense_variant,p.Arg1662Cys,ENST00000376970,;MYH14,missense_variant,p.Arg1629Cys,ENST00000596571,;MYH14,missense_variant,p.Arg1637Cys,ENST00000425460,;MYH14,missense_variant,p.Arg1637Cys,ENST00000598205,;MYH14,missense_variant,p.Arg1670Cys,ENST00000262269,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	5038	149	251	SUCCESS
C1orf167	284498	.	GRCh37	1	11838987	11838987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	43	107	0	ENST00000433342.1:c.2573C>T	p.Pro858Leu	p.P858L	ENST00000433342		858	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	2573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCCAGGG	NONE	.	.	.	.	.	ENSP00000414909	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000433342	Transcript	.	.	ENSG00000215910	25262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.07)	.	CA167_HUMAN	C1orf167	HGNC	.	.	UPI00015C73CD	SNV	C1orf167,missense_variant,p.Pro218Leu,ENST00000312793,;C1orf167,missense_variant,p.Pro858Leu,ENST00000433342,;C1orf167,upstream_gene_variant,,ENST00000449278,;C1orf167,upstream_gene_variant,,ENST00000444493,;RP11-56N19.5,intron_variant,,ENST00000376620,;C1orf167,downstream_gene_variant,,ENST00000484153,;	2573	107	165	SUCCESS
HRNR	388697	.	GRCh37	1	152188410	152188410	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780180420	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1934	89	1202	1	ENST00000368801.2:c.5695C>A	p.Gln1899Lys	p.Q1899K	ENST00000368801	NM_001009931.2	1899	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS30859.1	5695	MUTECT|MUSE	.	GTGTTGTTCGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	rs780180420	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Gln1899Lys,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	5771	1203	2023	SUCCESS
TMEM79	84283	.	GRCh37	1	156255146	156255146	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	33	85	0	ENST00000295694.5:c.129A>C	p.Gly43=	p.G43=	ENST00000295694		43	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS1138.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGAGCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	.	.	ENSP00000384748	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000405535	Transcript	.	.	ENSG00000163472	28196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,synonymous_variant,p.%3D,ENST00000405535,;TMEM79,synonymous_variant,p.%3D,ENST00000295694,;TMEM79,intron_variant,,ENST00000456810,;TMEM79,intron_variant,,ENST00000357501,;SMG5,upstream_gene_variant,,ENST00000368267,;SMG5,upstream_gene_variant,,ENST00000361813,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;TMEM79,intron_variant,,ENST00000463670,;C1orf85,downstream_gene_variant,,ENST00000497831,;TMEM79,upstream_gene_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000461597,;	300	85	110	SUCCESS
PPP1R12B	4660	.	GRCh37	1	202462434	202462434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	134	254	0	ENST00000608999.1:c.2134C>A	p.Leu712Met	p.L712M	ENST00000608999	NM_002481.3	712	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS1426.1	2134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCTGGAT	NONE	.	.	hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18,PIRSF_domain:PIRSF038141	.	.	ENSP00000476755	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000608999	Transcript	.	.	ENSG00000077157	7619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	tolerated(0.13)	.	.	PPP1R12B	HGNC	.	.	UPI0000458A57	SNV	PPP1R12B,missense_variant,p.Leu712Met,ENST00000608999,;PPP1R12B,missense_variant,p.Leu712Met,ENST00000336894,;PPP1R12B,5_prime_UTR_variant,,ENST00000391959,;PPP1R12B,5_prime_UTR_variant,,ENST00000367270,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000498070,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000290419,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000491336,;	2287	254	361	SUCCESS
RPS6KA1	6195	.	GRCh37	1	26881119	26881119	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs952329099	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	70	141	0	ENST00000374168.2:c.646G>A	p.Glu216Lys	p.E216K	ENST00000374168	NM_002953.3	216	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS30649.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGAGAAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000435412	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000531382	Transcript	.	.	ENSG00000117676	10430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0.03)	.	KS6A1_HUMAN	RPS6KA1	HGNC	E9PMM7_HUMAN	.	UPI000046D37A	SNV	RPS6KA1,missense_variant,p.Glu216Lys,ENST00000374168,;RPS6KA1,missense_variant,p.Glu216Lys,ENST00000374166,;RPS6KA1,missense_variant,p.Glu124Lys,ENST00000526792,;RPS6KA1,missense_variant,p.Glu200Lys,ENST00000530003,;RPS6KA1,missense_variant,p.Glu124Lys,ENST00000374162,;RPS6KA1,missense_variant,p.Glu225Lys,ENST00000531382,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;RPS6KA1,upstream_gene_variant,,ENST00000403732,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,upstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000524436,;RPS6KA1,downstream_gene_variant,,ENST00000526040,;RPS6KA1,downstream_gene_variant,,ENST00000527264,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000530607,;RPS6KA1,downstream_gene_variant,,ENST00000366866,;	722	141	214	SUCCESS
TOMM34	10953	.	GRCh37	20	43588912	43588912	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	72	117	1	ENST00000372813.3:c.63C>T	p.Arg21=	p.R21=	ENST00000372813	NM_006809.4	21	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13340.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTGCGGAA	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000361900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000372813	Transcript	.	.	ENSG00000025772	15746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM34_HUMAN	TOMM34	HGNC	.	.	UPI0000130CB3	SNV	TOMM34,synonymous_variant,p.%3D,ENST00000372813,;PABPC1L,downstream_gene_variant,,ENST00000372819,;PABPC1L,downstream_gene_variant,,ENST00000372826,;STK4-AS1,downstream_gene_variant,,ENST00000434401,;STK4-AS1,downstream_gene_variant,,ENST00000445571,;PABPC1L,downstream_gene_variant,,ENST00000490798,;	216	118	235	SUCCESS
TOMM34	10953	.	GRCh37	20	43588913	43588913	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	72	117	1	ENST00000372813.3:c.62G>T	p.Arg21Leu	p.R21L	ENST00000372813	NM_006809.4	21	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS13340.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTGCGGAAA	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000361900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000372813	Transcript	.	.	ENSG00000025772	15746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	deleterious(0)	.	TOM34_HUMAN	TOMM34	HGNC	.	.	UPI0000130CB3	SNV	TOMM34,missense_variant,p.Arg21Leu,ENST00000372813,;PABPC1L,downstream_gene_variant,,ENST00000372819,;PABPC1L,downstream_gene_variant,,ENST00000372826,;STK4-AS1,downstream_gene_variant,,ENST00000434401,;STK4-AS1,downstream_gene_variant,,ENST00000445571,;PABPC1L,downstream_gene_variant,,ENST00000490798,;	215	118	239	SUCCESS
ZBTB46	140685	.	GRCh37	20	62378320	62378320	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs536518455	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	26	0	ENST00000245663.4:c.1733del	p.Pro578GlnfsTer83	p.P578Qfs*83	ENST00000245663	NM_025224.3	578	cCa/ca	0	.	A:0.0008	.	A:0	.	-	P/X	protein_coding	YES	CCDS13538.1	1733	VARSCANI*|PINDEL	.	CCTCCTGGGGGG	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000245663	A:0	5/5	.	.	.	.	.	.	.	.	rs536518455	5/5	PASS	ENST00000245663	Transcript	.	A:0.0002	ENSG00000130584	16094	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	ZBT46_HUMAN	ZBTB46	HGNC	.	.	UPI0000206406	deletion	ZBTB46,frameshift_variant,p.Pro578GlnfsTer69,ENST00000302995,;ZBTB46,frameshift_variant,p.Pro578GlnfsTer83,ENST00000395104,;ZBTB46,frameshift_variant,p.Pro578GlnfsTer83,ENST00000245663,;SLC2A4RG,downstream_gene_variant,,ENST00000266077,;RP4-583P15.10,downstream_gene_variant,,ENST00000447343,;RP4-583P15.10,downstream_gene_variant,,ENST00000433905,;SLC2A4RG,downstream_gene_variant,,ENST00000473157,;SLC2A4RG,downstream_gene_variant,,ENST00000493772,;SLC2A4RG,downstream_gene_variant,,ENST00000496425,;SLC2A4RG,downstream_gene_variant,,ENST00000482718,;SLC2A4RG,downstream_gene_variant,,ENST00000485897,;SLC2A4RG,downstream_gene_variant,,ENST00000474248,;SLC2A4RG,downstream_gene_variant,,ENST00000491109,;	1884	26	35	SUCCESS
ANKRD30BP2	149992	.	GRCh37	21	14417587	14417587	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	15	98	0	ENST00000471407.1:n.273A>T		p.*91*	ENST00000471407				0	.	.	.	.	.	T	.	snRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTAAATGG	NONE	.	2317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000384369	Transcript	.	.	ENSG00000207097	47577	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-614P	HGNC	.	.	.	SNV	RNU6-614P,upstream_gene_variant,,ENST00000384369,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000507941,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000471407,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000447861,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000435744,;	.	98	100	SUCCESS
SLC19A1	6573	.	GRCh37	21	46951887	46951887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	36	0	ENST00000311124.4:c.365T>C	p.Met122Thr	p.M122T	ENST00000311124	NM_194255.2	122	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS13725.1	365	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCATGAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10686:SF12,hmmpanther:PTHR10686,Gene3D:1.20.1250.20,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF500793,PIRSF_domain:PIRSF028739,Superfamily_domains:SSF103473	.	.	ENSP00000308895	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000311124	Transcript	.	.	ENSG00000173638	10937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	S19A1_HUMAN	SLC19A1	HGNC	E9PIL5_HUMAN,D3DSM6_HUMAN,C9JKP4_HUMAN,C9J8K6_HUMAN	.	UPI000012AA0F	SNV	SLC19A1,missense_variant,p.Met122Thr,ENST00000567670,;SLC19A1,missense_variant,p.Met122Thr,ENST00000443742,;SLC19A1,missense_variant,p.Met122Thr,ENST00000311124,;SLC19A1,missense_variant,p.Met122Thr,ENST00000427839,;SLC19A1,missense_variant,p.Met122Thr,ENST00000380010,;SLC19A1,missense_variant,p.Met82Thr,ENST00000485649,;SLC19A1,upstream_gene_variant,,ENST00000417954,;SLC19A1,non_coding_transcript_exon_variant,,ENST00000477688,;SLC19A1,downstream_gene_variant,,ENST00000486303,;	518	36	50	SUCCESS
LIF	3976	.	GRCh37	22	30640773	30640773	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1422604609	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	9	142	0	ENST00000249075.3:c.169G>A	p.Gly57Ser	p.G57S	ENST00000249075	NM_002309.4	57	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13872.1	169	MUTECT|MUSE	.	ACTGCCATTGA	NONE	.	.	Prints_domain:PR01883,Superfamily_domains:SSF47266,SMART_domains:SM00080,Gene3D:1.20.1250.10,Pfam_domain:PF01291,hmmpanther:PTHR10633	.	.	ENSP00000249075	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000249075	Transcript	.	.	ENSG00000128342	6596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(1)	.	LIF_HUMAN	LIF	HGNC	.	.	UPI000002C08D	SNV	LIF,missense_variant,p.Gly57Ser,ENST00000249075,;LIF,intron_variant,,ENST00000403987,;RP1-102K2.8,upstream_gene_variant,,ENST00000608354,;RP1-102K2.8,upstream_gene_variant,,ENST00000593843,;RP1-102K2.6,downstream_gene_variant,,ENST00000447565,;	325	142	195	SUCCESS
SCN10A	6336	.	GRCh37	3	38791583	38791583	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	36	98	0	ENST00000449082.2:c.1848C>A	p.Ile616=	p.I616=	ENST00000449082	NM_006514.2	616	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS33736.1	1848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTATGATACT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	12/27	.	.	.	.	.	.	.	.	COSM3593599	12/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,synonymous_variant,p.%3D,ENST00000449082,;	1848	98	125	SUCCESS
APC	324	.	GRCh37	5	112111324	112111324	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	46	0	ENST00000257430.4:c.423-2A>G		p.X141_splice	ENST00000257430	NM_000038.5	141		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4107.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAATAGGTCA	BUFFER|p.?|c.423-1G>A|3	.	.	.	.	.	ENSP00000413133	.	.	.	.	.	.	.	.	.	.	CS106641,CS051678,CS043351,COSM1432142	.	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	HIGH	4/15	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	.	.	.	0,0,0,1	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,splice_acceptor_variant,,ENST00000257430,;APC,splice_acceptor_variant,,ENST00000507379,;APC,splice_acceptor_variant,,ENST00000457016,;APC,splice_acceptor_variant,,ENST00000508376,;APC,splice_acceptor_variant,,ENST00000512211,;RNU6-482P,upstream_gene_variant,,ENST00000391068,;APC,splice_acceptor_variant,,ENST00000508624,;CBX3P3,downstream_gene_variant,,ENST00000508108,;	.	46	42	SUCCESS
HDAC3	8841	.	GRCh37	5	141007750	141007750	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	49	111	0	ENST00000305264.3:c.696C>G	p.Tyr232Ter	p.Y232*	ENST00000305264	NM_003883.3	232	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS4264.1	696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTGTAACC	NONE	.	.	hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271	.	.	ENSP00000302967	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000305264	Transcript	.	.	ENSG00000171720	4854	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC3_HUMAN	HDAC3	HGNC	Q9H368_HUMAN,B5MGH4_HUMAN	.	UPI000003552A	SNV	HDAC3,stop_gained,p.Tyr157Ter,ENST00000523088,;HDAC3,stop_gained,p.Tyr232Ter,ENST00000305264,;AC008781.7,downstream_gene_variant,,ENST00000422040,;HDAC3,non_coding_transcript_exon_variant,,ENST00000459727,;HDAC3,upstream_gene_variant,,ENST00000469207,;HDAC3,3_prime_UTR_variant,,ENST00000519474,;HDAC3,non_coding_transcript_exon_variant,,ENST00000467533,;HDAC3,non_coding_transcript_exon_variant,,ENST00000469550,;HDAC3,non_coding_transcript_exon_variant,,ENST00000492407,;HDAC3,non_coding_transcript_exon_variant,,ENST00000476739,;HDAC3,downstream_gene_variant,,ENST00000495485,;HDAC3,upstream_gene_variant,,ENST00000491581,;HDAC3,upstream_gene_variant,,ENST00000475549,;HDAC3,downstream_gene_variant,,ENST00000471968,;HDAC3,upstream_gene_variant,,ENST00000486618,;HDAC3,downstream_gene_variant,,ENST00000490808,;	776	112	163	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178541281	178541281	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs912743717	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	43	106	1	ENST00000251582.7:c.3223G>A	p.Val1075Ile	p.V1075I	ENST00000251582	NM_014244.4	1075	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS4444.1	3223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGACTTCCA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50900	.	.	ENSP00000251582	.	22/22	.	.	.	.	.	.	.	.	COSM1436471	22/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.11)	.	deleterious(0.05)	1	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,missense_variant,p.Val1075Ile,ENST00000251582,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000522937,;ADAMTS2,downstream_gene_variant,,ENST00000523450,;	3325	108	155	SUCCESS
EXOC3	11336	.	GRCh37	5	462103	462103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	69	134	1	ENST00000512944.1:c.1420G>A	p.Glu474Lys	p.E474K	ENST00000512944	NM_007277.4	474	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54830.1	1420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAGAAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292,Pfam_domain:PF06046	.	.	ENSP00000425587	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000512944	Transcript	.	.	ENSG00000180104	30378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	EXOC3_HUMAN	EXOC3	HGNC	Q69YP2_HUMAN,D6RBR9_HUMAN,B2RE06_HUMAN	.	UPI000004A021	SNV	EXOC3,missense_variant,p.Glu474Lys,ENST00000315013,;EXOC3,missense_variant,p.Glu474Lys,ENST00000512944,;CTD-2228K2.5,downstream_gene_variant,,ENST00000510714,;EXOC3,missense_variant,p.Glu344Lys,ENST00000503889,;EXOC3,missense_variant,p.Glu359Lys,ENST00000515601,;EXOC3,non_coding_transcript_exon_variant,,ENST00000511015,;EXOC3,downstream_gene_variant,,ENST00000510028,;EXOC3,upstream_gene_variant,,ENST00000505947,;	1609	136	246	SUCCESS
IL6ST	3572	.	GRCh37	5	55260044	55260049	+	inframe_deletion	In_Frame_Del	DEL	GACTTC	GACTTC	-	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	GACTTC	GACTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	111	20	104	0	ENST00000336909.5:c.583_588del	p.Glu195_Val196del	p.E195_V196del	ENST00000336909		195	GAAGTC/-	0	.	.	.	.	.	-	EV/-	protein_coding	YES	CCDS3971.1	583-588	INDELOCATOR*|PINDEL	.	TACCCAGACTTCAATGT	BUFFER|p.S187_Y190delSTVY|c.560_571del12|3,BUFFER|p.Y186_Y190delYSTVY|c.557_571del15|3	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000522633,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000381287,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000336909,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000381298,;IL6ST,inframe_deletion,p.Leu52_Ser54delinsPhe,ENST00000396816,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000536319,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000381294,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	896-901	104	131	SUCCESS
FAM169A	26049	.	GRCh37	5	74100401	74100401	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748457895	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	18	0	ENST00000389156.4:c.829A>G	p.Met277Val	p.M277V	ENST00000389156	NM_015566.2	277	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS43330.1	829	RADIA|MUTECT|MUSE	.	AGACATAGGTC	NONE	byFrequency	.	hmmpanther:PTHR22442:SF3,hmmpanther:PTHR22442	.	.	ENSP00000373808	.	8/13	.	.	.	.	.	.	.	.	rs748457895	8/13	PASS	ENST00000389156	Transcript	.	.	ENSG00000198780	29138	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.52)	.	F169A_HUMAN	FAM169A	HGNC	D6RFI5_HUMAN,D6RC41_HUMAN,D6R953_HUMAN	.	UPI000013E38E	SNV	FAM169A,missense_variant,p.Met217Val,ENST00000510496,;FAM169A,missense_variant,p.Met277Val,ENST00000389156,;FAM169A,3_prime_UTR_variant,,ENST00000380515,;FAM169A,3_prime_UTR_variant,,ENST00000510609,;FAM169A,3_prime_UTR_variant,,ENST00000514215,;CTD-2060C23.1,downstream_gene_variant,,ENST00000511688,;	920	18	18	SUCCESS
TUBB2A	7280	.	GRCh37	6	3154966	3154966	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	65	208	0	ENST00000333628.3:c.469del	p.Glu157LysfsTer8	p.E157Kfs*8	ENST00000333628	NM_001069.2	157	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS4484.1	469	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTTCCCGGA	NONE	.	.	hmmpanther:PTHR11588:SF56,hmmpanther:PTHR11588,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161,Prints_domain:PR01163	.	.	ENSP00000369703	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333628	Transcript	.	.	ENSG00000137267	12412	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBB2A_HUMAN	TUBB2A	HGNC	.	.	UPI000000DC98	deletion	TUBB2A,frameshift_variant,p.Glu157LysfsTer8,ENST00000333628,;BPHL,downstream_gene_variant,,ENST00000380368,;BPHL,downstream_gene_variant,,ENST00000380379,;BPHL,downstream_gene_variant,,ENST00000423798,;BPHL,downstream_gene_variant,,ENST00000380375,;BPHL,downstream_gene_variant,,ENST00000434640,;RP1-40E16.11,upstream_gene_variant,,ENST00000447644,;TUBB2A,non_coding_transcript_exon_variant,,ENST00000489942,;BPHL,downstream_gene_variant,,ENST00000464040,;BPHL,downstream_gene_variant,,ENST00000490918,;BPHL,downstream_gene_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000424847,;BPHL,downstream_gene_variant,,ENST00000430655,;BPHL,downstream_gene_variant,,ENST00000433912,;	532	208	358	SUCCESS
TUBB2B	347733	.	GRCh37	6	3225854	3225854	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	19	93	0	ENST00000259818.7:c.469del	p.Glu157LysfsTer8	p.E157Kfs*8	ENST00000259818	NM_178012.4	157	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS4485.1	469	INDELOCATOR|VARSCANI	.	ACTCTTCCCGGA	NONE	.	.	Prints_domain:PR01163,Prints_domain:PR01161,Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF56	.	.	ENSP00000259818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000259818	Transcript	.	.	ENSG00000137285	30829	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBB2B_HUMAN	TUBB2B	HGNC	O43209_HUMAN,A1L195_HUMAN	.	UPI0000024E6E	deletion	TUBB2B,frameshift_variant,p.Glu157LysfsTer8,ENST00000259818,;TUBB2B,non_coding_transcript_exon_variant,,ENST00000473006,;	661	93	141	SUCCESS
ZNF451	26036	.	GRCh37	6	57012123	57012123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	58	0	ENST00000370706.4:c.1240G>A	p.Asp414Asn	p.D414N	ENST00000370706	NM_001031623.2	414	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43477.1	1240	MUTECT|MUSE|VARSCANS	.	CTTCTGACTTG	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436	.	.	ENSP00000359740	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.025)	.	tolerated(0.33)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Asp414Asn,ENST00000357489,;ZNF451,missense_variant,p.Asp414Asn,ENST00000370706,;ZNF451,missense_variant,p.Asp414Asn,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;RP11-203B9.4,downstream_gene_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	1484	58	72	SUCCESS
ZNF800	168850	.	GRCh37	7	127026146	127026146	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	31	0	ENST00000265827.3:c.125G>C	p.Gly42Ala	p.G42A	ENST00000265827	NM_176814.3	42	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS5795.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATACCAGAT	NONE	.	.	hmmpanther:PTHR21020	.	.	ENSP00000376989	.	3/6	.	.	.	.	.	.	.	.	COSM1187426,COSM1187425	3/6	PASS	ENST00000393313	Transcript	.	.	ENSG00000048405	27267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	1,1	ZN800_HUMAN	ZNF800	HGNC	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN	.	UPI000020FA03	SNV	ZNF800,missense_variant,p.Gly42Ala,ENST00000393312,;ZNF800,missense_variant,p.Gly42Ala,ENST00000393313,;ZNF800,missense_variant,p.Gly42Ala,ENST00000265827,;ZNF800,missense_variant,p.Gly42Ala,ENST00000439506,;ZNF800,missense_variant,p.Gly42Ala,ENST00000436992,;ZNF800,missense_variant,p.Gly42Ala,ENST00000434602,;	717	31	36	SUCCESS
BET1	10282	.	GRCh37	7	93628605	93628605	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	37	0	ENST00000222547.3:c.21T>C		p.X7_splice	ENST00000222547	NM_005868.4	7	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS5635.1	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCACCTGC	NONE	.	.	hmmpanther:PTHR12791	.	.	ENSP00000222547	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000222547	Transcript	.	.	ENSG00000105829	14562	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BET1_HUMAN	BET1	HGNC	Q53XK0_HUMAN	.	UPI000012689A	SNV	BET1,synonymous_variant,p.%3D,ENST00000433727,;BET1,synonymous_variant,p.%3D,ENST00000222547,;BET1,synonymous_variant,p.%3D,ENST00000457139,;BET1,synonymous_variant,p.%3D,ENST00000425626,;AC006378.2,intron_variant,,ENST00000426634,;AC006378.2,intron_variant,,ENST00000426193,;BET1,upstream_gene_variant,,ENST00000471446,;BET1,synonymous_variant,p.%3D,ENST00000357520,;	180	37	42	SUCCESS
WHSC1L1	0	.	GRCh37	8	38133282	38133282	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	45	0	ENST00000317025.8:c.4191T>A	p.Ser1397=	p.S1397=	ENST00000317025	NM_023034.1	1397	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43729.1	4191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCAGAGGG	NONE	.	.	.	.	.	ENSP00000313983	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000317025	Transcript	.	.	ENSG00000147548	12767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD3_HUMAN	WHSC1L1	HGNC	E9PQ95_HUMAN,E9PKA2_HUMAN	.	UPI000006F297	SNV	WHSC1L1,synonymous_variant,p.%3D,ENST00000433384,;WHSC1L1,synonymous_variant,p.%3D,ENST00000317025,;WHSC1L1,synonymous_variant,p.%3D,ENST00000527502,;RP11-513D5.5,upstream_gene_variant,,ENST00000529325,;DDHD2,downstream_gene_variant,,ENST00000526071,;DDHD2,downstream_gene_variant,,ENST00000529872,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000528828,;	4709	45	63	SUCCESS
HSPA5	3309	.	GRCh37	9	128003101	128003101	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200897884	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	58	153	1	ENST00000324460.6:c.208C>A	p.Pro70Thr	p.P70T	ENST00000324460	NM_005347.4	70	Cct/Act	0	.	A:0	.	A:0	.	T	P/T	protein_coding	YES	CCDS6863.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGAGTGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.30.420.40,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF157	A:0.003	.	ENSP00000324173	A:0	2/8	.	.	.	.	.	.	.	.	rs200897884	2/8	PASS	ENST00000324460	Transcript	.	A:0.0006	ENSG00000044574	5238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated_low_confidence(0.16)	.	GRP78_HUMAN	HSPA5	HGNC	.	.	UPI0000001061	SNV	HSPA5,missense_variant,p.Pro70Thr,ENST00000324460,;RP11-65N13.8,upstream_gene_variant,,ENST00000468244,;	412	154	214	SUCCESS
NRAP	4892	.	GRCh37	10	115374663	115374663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	67	228	0	ENST00000359988.3:c.3121T>A	p.Tyr1041Asn	p.Y1041N	ENST00000359988	NM_001261463.1	1041	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS7579.1	3121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATAGCCAC	NONE	.	.	SMART_domains:SM00227,hmmpanther:PTHR11039,PROSITE_profiles:PS51216	.	.	ENSP00000353078	.	28/42	.	.	.	.	.	.	.	.	.	28/42	nonpreferredpair	ENST00000359988	Transcript	.	.	ENSG00000197893	7988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated(0.35)	.	NRAP_HUMAN	NRAP	HGNC	.	.	UPI00001F9739	SNV	NRAP,missense_variant,p.Tyr1014Asn,ENST00000369360,;NRAP,missense_variant,p.Tyr1049Asn,ENST00000369358,;NRAP,missense_variant,p.Tyr1006Asn,ENST00000360478,;NRAP,missense_variant,p.Tyr1041Asn,ENST00000359988,;	3366	228	216	SUCCESS
LRRTM3	347731	.	GRCh37	10	68686847	68686847	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	69	0	ENST00000361320.4:c.173G>C	p.Ser58Thr	p.S58T	ENST00000361320	NM_178011.3	58	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS7270.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAGTATAT	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,missense_variant,p.Ser58Thr,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	751	69	54	SUCCESS
SART3	9733	.	GRCh37	12	108929239	108929239	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	21	170	0	ENST00000228284.3:c.1452A>G	p.Arg484=	p.R484=	ENST00000228284	NM_014706.3	484	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS9117.1	1452	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTCGAGC	NONE	.	.	Superfamily_domains:SSF48452,hmmpanther:PTHR23269,hmmpanther:PTHR23269:SF0	.	.	ENSP00000228284	.	12/19	.	.	.	.	.	.	.	.	.	12/19	nonpreferredpair	ENST00000228284	Transcript	.	.	ENSG00000075856	16860	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SART3_HUMAN	SART3	HGNC	H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN	.	UPI000006D72B	SNV	SART3,synonymous_variant,p.%3D,ENST00000228284,;SART3,synonymous_variant,p.%3D,ENST00000431469,;SART3,synonymous_variant,p.%3D,ENST00000546815,;SART3,3_prime_UTR_variant,,ENST00000547528,;SART3,3_prime_UTR_variant,,ENST00000546728,;SART3,non_coding_transcript_exon_variant,,ENST00000546808,;SART3,non_coding_transcript_exon_variant,,ENST00000548077,;SART3,downstream_gene_variant,,ENST00000548119,;SART3,upstream_gene_variant,,ENST00000547196,;SART3,upstream_gene_variant,,ENST00000548582,;	1687	170	146	SUCCESS
SBNO1	55206	.	GRCh37	12	123815842	123815842	+	synonymous_variant	Silent	SNP	C	C	T	rs74679372	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	83	1	ENST00000420886.2:c.990G>A	p.Thr330=	p.T330=	ENST00000420886	NM_001167856.1	330	acG/acA	0	A:0.0007	A:0.0053	.	A:0	.	T	T	protein_coding	YES	CCDS53844.1	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATCGTCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8,Pfam_domain:PF13872,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000387361	A:0	7/31	.	.	.	.	.	.	.	.	rs74679372	7/31	nonpreferredpair	ENST00000420886	Transcript	.	A:0.0014	ENSG00000139697	22973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,synonymous_variant,p.%3D,ENST00000602398,;SBNO1,synonymous_variant,p.%3D,ENST00000602750,;SBNO1,synonymous_variant,p.%3D,ENST00000420886,;SBNO1,synonymous_variant,p.%3D,ENST00000267176,;	990	84	94	SUCCESS
WNT1	7471	.	GRCh37	12	49374348	49374348	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	118	0	ENST00000293549.3:c.500G>T	p.Trp167Leu	p.W167L	ENST00000293549	NM_005430.3	167	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS8776.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGGGGGG	NONE	.	.	hmmpanther:PTHR12027:SF80,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000293549	.	3/4	.	.	.	.	.	.	.	.	COSM300509	3/4	nonpreferredpair	ENST00000293549	Transcript	.	.	ENSG00000125084	12774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	WNT1_HUMAN	WNT1	HGNC	.	.	UPI0000051043	SNV	WNT1,missense_variant,p.Trp167Leu,ENST00000293549,;RNU6-940P,downstream_gene_variant,,ENST00000363433,;	536	119	124	SUCCESS
OR4M2	390538	.	GRCh37	15	22369299	22369299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	64	321	0	ENST00000332663.2:c.724T>A	p.Cys242Ser	p.C242S	ENST00000332663	NM_001004719.2	242	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS32172.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGCTAT	BUFFER|p.M239V|c.715A>G|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,missense_variant,p.Cys242Ser,ENST00000332663,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	822	321	296	SUCCESS
TLE2	7089	.	GRCh37	19	2997867	2997867	+	synonymous_variant	Silent	SNP	G	G	C	rs199703619	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	5	139	0	ENST00000262953.6:c.2211C>G	p.Thr737=	p.T737=	ENST00000262953	NM_003260.4	737	acC/acG	0	A:0.0002	A:0	.	A:0	.	C	T	protein_coding	YES	CCDS45911.1	2211	MUTECT|MUSE	.	TACACGGTGGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50294,hmmpanther:PTHR10814:SF4,hmmpanther:PTHR10814,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR01850	A:0	A:0.0006	ENSP00000262953	A:0.001	20/20	.	.	.	.	.	.	.	.	rs199703619,COSM1392324	20/20	nonpreferredpair	ENST00000262953	Transcript	.	A:0.0002	ENSG00000065717	11838	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	TLE2_HUMAN	TLE2	HGNC	.	.	UPI0000137038	SNV	TLE2,synonymous_variant,p.%3D,ENST00000447365,;TLE2,synonymous_variant,p.%3D,ENST00000455444,;TLE2,synonymous_variant,p.%3D,ENST00000443826,;TLE2,synonymous_variant,p.%3D,ENST00000262953,;TLE2,synonymous_variant,p.%3D,ENST00000590536,;TLE2,3_prime_UTR_variant,,ENST00000591529,;TLE2,intron_variant,,ENST00000586422,;TLE2,downstream_gene_variant,,ENST00000426948,;TLE6,downstream_gene_variant,,ENST00000246112,;TLE6,downstream_gene_variant,,ENST00000452088,;TLE6,downstream_gene_variant,,ENST00000497878,;	2474	139	136	SUCCESS
SAMD4B	55095	.	GRCh37	19	39866423	39866423	+	synonymous_variant	Silent	SNP	C	C	T	rs375237719	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	53	0	ENST00000314471.6:c.801C>T	p.His267=	p.H267=	ENST00000314471	NM_018028.2	267	caC/caT	0	T:0	.	.	.	.	T	H	protein_coding	YES	CCDS33020.1	801	MUTECT|MUSE	.	GATCACGCACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF9	.	T:0.0005	ENSP00000317224	.	7/16	.	.	.	.	.	.	.	.	rs375237719	7/16	nonpreferredpair	ENST00000314471	Transcript	.	.	ENSG00000179134	25492	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMAG2_HUMAN	SAMD4B	HGNC	M0QY61_HUMAN,M0QXV2_HUMAN	.	UPI00001D8165	SNV	SAMD4B,synonymous_variant,p.%3D,ENST00000598913,;SAMD4B,synonymous_variant,p.%3D,ENST00000596368,;SAMD4B,synonymous_variant,p.%3D,ENST00000314471,;SAMD4B,intron_variant,,ENST00000600018,;SAMD4B,upstream_gene_variant,,ENST00000598605,;SAMD4B,upstream_gene_variant,,ENST00000595476,;SAMD4B,downstream_gene_variant,,ENST00000596319,;	1836	53	53	SUCCESS
ARHGEF1	9138	.	GRCh37	19	42409130	42409130	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	67	0	ENST00000354532.3:c.2191T>G	p.Trp731Gly	p.W731G	ENST00000354532	NM_004706.3	731	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS12590.1	2236	MUTECT|MUSE|VARSCANS	.	TTACCTGGGAC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF6,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000337261	.	23/29	.	.	.	.	.	.	.	.	.	23/29	nonpreferredpair	ENST00000337665	Transcript	.	.	ENSG00000076928	681	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.928)	.	tolerated(0.13)	.	ARHG1_HUMAN	ARHGEF1	HGNC	.	.	UPI0000231C94	SNV	ARHGEF1,missense_variant,p.Trp787Gly,ENST00000599846,;ARHGEF1,missense_variant,p.Trp746Gly,ENST00000337665,;ARHGEF1,missense_variant,p.Trp489Gly,ENST00000599589,;ARHGEF1,missense_variant,p.Trp698Gly,ENST00000347545,;ARHGEF1,missense_variant,p.Trp731Gly,ENST00000354532,;ARHGEF1,missense_variant,p.Trp186Gly,ENST00000595723,;ARHGEF1,missense_variant,p.Trp713Gly,ENST00000378152,;ARHGEF1,downstream_gene_variant,,ENST00000594258,;ARHGEF1,downstream_gene_variant,,ENST00000594521,;CTD-2575K13.6,downstream_gene_variant,,ENST00000597630,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000595897,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600274,;ARHGEF1,intron_variant,,ENST00000600517,;ARHGEF1,upstream_gene_variant,,ENST00000598444,;ARHGEF1,upstream_gene_variant,,ENST00000593609,;ARHGEF1,downstream_gene_variant,,ENST00000594044,;ARHGEF1,upstream_gene_variant,,ENST00000598587,;CTD-2575K13.6,downstream_gene_variant,,ENST00000598387,;	2256	67	51	SUCCESS
MYH14	79784	.	GRCh37	19	50794186	50794186	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369826983	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	80	203	0	ENST00000376970.2:c.4984C>T	p.Arg1662Cys	p.R1662C	ENST00000376970	NM_024729.3	1662	Cgc/Tgc	0	T:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS54295.1	5008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCGCACT	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	T:0	ENSP00000470298	.	36/43	.	.	.	.	.	.	.	.	rs369826983	36/43	nonpreferredpair	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Arg1670Cys,ENST00000440075,;MYH14,missense_variant,p.Arg1670Cys,ENST00000601313,;MYH14,missense_variant,p.Arg1662Cys,ENST00000376970,;MYH14,missense_variant,p.Arg1629Cys,ENST00000596571,;MYH14,missense_variant,p.Arg1637Cys,ENST00000425460,;MYH14,missense_variant,p.Arg1637Cys,ENST00000598205,;MYH14,missense_variant,p.Arg1670Cys,ENST00000262269,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	5038	204	251	SUCCESS
C1orf167	284498	.	GRCh37	1	11838987	11838987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	43	169	0	ENST00000433342.1:c.2573C>T	p.Pro858Leu	p.P858L	ENST00000433342		858	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	2573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCCAGGG	NONE	.	.	.	.	.	ENSP00000414909	.	12/21	.	.	.	.	.	.	.	.	.	12/21	nonpreferredpair	ENST00000433342	Transcript	.	.	ENSG00000215910	25262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.07)	.	CA167_HUMAN	C1orf167	HGNC	.	.	UPI00015C73CD	SNV	C1orf167,missense_variant,p.Pro218Leu,ENST00000312793,;C1orf167,missense_variant,p.Pro858Leu,ENST00000433342,;C1orf167,upstream_gene_variant,,ENST00000449278,;C1orf167,upstream_gene_variant,,ENST00000444493,;RP11-56N19.5,intron_variant,,ENST00000376620,;C1orf167,downstream_gene_variant,,ENST00000484153,;	2573	169	165	SUCCESS
HRNR	388697	.	GRCh37	1	152188410	152188410	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780180420	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1934	89	2018	0	ENST00000368801.2:c.5695C>A	p.Gln1899Lys	p.Q1899K	ENST00000368801	NM_001009931.2	1899	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS30859.1	5695	MUTECT|MUSE	.	GTGTTGTTCGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	rs780180420	3/3	nonpreferredpair	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Gln1899Lys,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	5771	2018	2023	SUCCESS
TMEM79	84283	.	GRCh37	1	156255146	156255146	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	33	129	0	ENST00000295694.5:c.129A>C	p.Gly43=	p.G43=	ENST00000295694		43	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS1138.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGAGCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	.	.	ENSP00000384748	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000405535	Transcript	.	.	ENSG00000163472	28196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,synonymous_variant,p.%3D,ENST00000405535,;TMEM79,synonymous_variant,p.%3D,ENST00000295694,;TMEM79,intron_variant,,ENST00000456810,;TMEM79,intron_variant,,ENST00000357501,;SMG5,upstream_gene_variant,,ENST00000368267,;SMG5,upstream_gene_variant,,ENST00000361813,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;TMEM79,intron_variant,,ENST00000463670,;C1orf85,downstream_gene_variant,,ENST00000497831,;TMEM79,upstream_gene_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000461597,;	300	129	110	SUCCESS
PPP1R12B	4660	.	GRCh37	1	202462434	202462434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	134	386	0	ENST00000608999.1:c.2134C>A	p.Leu712Met	p.L712M	ENST00000608999	NM_002481.3	712	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS1426.1	2134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCTGGAT	NONE	.	.	hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18,PIRSF_domain:PIRSF038141	.	.	ENSP00000476755	.	15/24	.	.	.	.	.	.	.	.	.	15/24	nonpreferredpair	ENST00000608999	Transcript	.	.	ENSG00000077157	7619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	tolerated(0.13)	.	.	PPP1R12B	HGNC	.	.	UPI0000458A57	SNV	PPP1R12B,missense_variant,p.Leu712Met,ENST00000608999,;PPP1R12B,missense_variant,p.Leu712Met,ENST00000336894,;PPP1R12B,5_prime_UTR_variant,,ENST00000391959,;PPP1R12B,5_prime_UTR_variant,,ENST00000367270,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000498070,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000290419,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000491336,;	2287	386	361	SUCCESS
RPS6KA1	6195	.	GRCh37	1	26881119	26881119	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs952329099	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	70	229	0	ENST00000374168.2:c.646G>A	p.Glu216Lys	p.E216K	ENST00000374168	NM_002953.3	216	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS30649.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACGAGAAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000435412	.	8/21	.	.	.	.	.	.	.	.	.	8/21	nonpreferredpair	ENST00000531382	Transcript	.	.	ENSG00000117676	10430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0.03)	.	KS6A1_HUMAN	RPS6KA1	HGNC	E9PMM7_HUMAN	.	UPI000046D37A	SNV	RPS6KA1,missense_variant,p.Glu216Lys,ENST00000374168,;RPS6KA1,missense_variant,p.Glu216Lys,ENST00000374166,;RPS6KA1,missense_variant,p.Glu124Lys,ENST00000526792,;RPS6KA1,missense_variant,p.Glu200Lys,ENST00000530003,;RPS6KA1,missense_variant,p.Glu124Lys,ENST00000374162,;RPS6KA1,missense_variant,p.Glu225Lys,ENST00000531382,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;RPS6KA1,upstream_gene_variant,,ENST00000403732,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,upstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000524436,;RPS6KA1,downstream_gene_variant,,ENST00000526040,;RPS6KA1,downstream_gene_variant,,ENST00000527264,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000530607,;RPS6KA1,downstream_gene_variant,,ENST00000366866,;	722	229	214	SUCCESS
TOMM34	10953	.	GRCh37	20	43588912	43588912	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	72	274	0	ENST00000372813.3:c.63C>T	p.Arg21=	p.R21=	ENST00000372813	NM_006809.4	21	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13340.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTGCGGAA	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000361900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000372813	Transcript	.	.	ENSG00000025772	15746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM34_HUMAN	TOMM34	HGNC	.	.	UPI0000130CB3	SNV	TOMM34,synonymous_variant,p.%3D,ENST00000372813,;PABPC1L,downstream_gene_variant,,ENST00000372819,;PABPC1L,downstream_gene_variant,,ENST00000372826,;STK4-AS1,downstream_gene_variant,,ENST00000434401,;STK4-AS1,downstream_gene_variant,,ENST00000445571,;PABPC1L,downstream_gene_variant,,ENST00000490798,;	216	274	235	SUCCESS
TOMM34	10953	.	GRCh37	20	43588913	43588913	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	72	275	0	ENST00000372813.3:c.62G>T	p.Arg21Leu	p.R21L	ENST00000372813	NM_006809.4	21	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS13340.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTGCGGAAA	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000361900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000372813	Transcript	.	.	ENSG00000025772	15746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	deleterious(0)	.	TOM34_HUMAN	TOMM34	HGNC	.	.	UPI0000130CB3	SNV	TOMM34,missense_variant,p.Arg21Leu,ENST00000372813,;PABPC1L,downstream_gene_variant,,ENST00000372819,;PABPC1L,downstream_gene_variant,,ENST00000372826,;STK4-AS1,downstream_gene_variant,,ENST00000434401,;STK4-AS1,downstream_gene_variant,,ENST00000445571,;PABPC1L,downstream_gene_variant,,ENST00000490798,;	215	275	239	SUCCESS
ZBTB46	140685	.	GRCh37	20	62378320	62378320	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs536518455	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	66	0	ENST00000245663.4:c.1733del	p.Pro578GlnfsTer83	p.P578Qfs*83	ENST00000245663	NM_025224.3	578	cCa/ca	0	.	A:0.0008	.	A:0	.	-	P/X	protein_coding	YES	CCDS13538.1	1733	VARSCANI*|PINDEL	.	CCTCCTGGGGGG	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000245663	A:0	5/5	.	.	.	.	.	.	.	.	rs536518455	5/5	nonpreferredpair	ENST00000245663	Transcript	.	A:0.0002	ENSG00000130584	16094	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	ZBT46_HUMAN	ZBTB46	HGNC	.	.	UPI0000206406	deletion	ZBTB46,frameshift_variant,p.Pro578GlnfsTer69,ENST00000302995,;ZBTB46,frameshift_variant,p.Pro578GlnfsTer83,ENST00000395104,;ZBTB46,frameshift_variant,p.Pro578GlnfsTer83,ENST00000245663,;SLC2A4RG,downstream_gene_variant,,ENST00000266077,;RP4-583P15.10,downstream_gene_variant,,ENST00000447343,;RP4-583P15.10,downstream_gene_variant,,ENST00000433905,;SLC2A4RG,downstream_gene_variant,,ENST00000473157,;SLC2A4RG,downstream_gene_variant,,ENST00000493772,;SLC2A4RG,downstream_gene_variant,,ENST00000496425,;SLC2A4RG,downstream_gene_variant,,ENST00000482718,;SLC2A4RG,downstream_gene_variant,,ENST00000485897,;SLC2A4RG,downstream_gene_variant,,ENST00000474248,;SLC2A4RG,downstream_gene_variant,,ENST00000491109,;	1884	66	35	SUCCESS
ANKRD30BP2	149992	.	GRCh37	21	14417587	14417587	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	15	139	0	ENST00000471407.1:n.273A>T		p.*91*	ENST00000471407				0	.	.	.	.	.	T	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTAAATGG	NONE	.	2317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000384369	Transcript	.	.	ENSG00000207097	47577	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-614P	HGNC	.	.	.	SNV	RNU6-614P,upstream_gene_variant,,ENST00000384369,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000507941,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000471407,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000447861,;ANKRD30BP2,non_coding_transcript_exon_variant,,ENST00000435744,;	.	139	100	SUCCESS
SLC19A1	6573	.	GRCh37	21	46951887	46951887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	76	0	ENST00000311124.4:c.365T>C	p.Met122Thr	p.M122T	ENST00000311124	NM_194255.2	122	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS13725.1	365	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCATGAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10686:SF12,hmmpanther:PTHR10686,Gene3D:1.20.1250.20,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF500793,PIRSF_domain:PIRSF028739,Superfamily_domains:SSF103473	.	.	ENSP00000308895	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000311124	Transcript	.	.	ENSG00000173638	10937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	S19A1_HUMAN	SLC19A1	HGNC	E9PIL5_HUMAN,D3DSM6_HUMAN,C9JKP4_HUMAN,C9J8K6_HUMAN	.	UPI000012AA0F	SNV	SLC19A1,missense_variant,p.Met122Thr,ENST00000567670,;SLC19A1,missense_variant,p.Met122Thr,ENST00000443742,;SLC19A1,missense_variant,p.Met122Thr,ENST00000311124,;SLC19A1,missense_variant,p.Met122Thr,ENST00000427839,;SLC19A1,missense_variant,p.Met122Thr,ENST00000380010,;SLC19A1,missense_variant,p.Met82Thr,ENST00000485649,;SLC19A1,upstream_gene_variant,,ENST00000417954,;SLC19A1,non_coding_transcript_exon_variant,,ENST00000477688,;SLC19A1,downstream_gene_variant,,ENST00000486303,;	518	76	50	SUCCESS
LIF	3976	.	GRCh37	22	30640773	30640773	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1422604609	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	9	231	0	ENST00000249075.3:c.169G>A	p.Gly57Ser	p.G57S	ENST00000249075	NM_002309.4	57	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13872.1	169	MUTECT|MUSE	.	ACTGCCATTGA	NONE	.	.	Prints_domain:PR01883,Superfamily_domains:SSF47266,SMART_domains:SM00080,Gene3D:1.20.1250.10,Pfam_domain:PF01291,hmmpanther:PTHR10633	.	.	ENSP00000249075	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000249075	Transcript	.	.	ENSG00000128342	6596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(1)	.	LIF_HUMAN	LIF	HGNC	.	.	UPI000002C08D	SNV	LIF,missense_variant,p.Gly57Ser,ENST00000249075,;LIF,intron_variant,,ENST00000403987,;RP1-102K2.8,upstream_gene_variant,,ENST00000608354,;RP1-102K2.8,upstream_gene_variant,,ENST00000593843,;RP1-102K2.6,downstream_gene_variant,,ENST00000447565,;	325	231	195	SUCCESS
SCN10A	6336	.	GRCh37	3	38791583	38791583	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	36	168	0	ENST00000449082.2:c.1848C>A	p.Ile616=	p.I616=	ENST00000449082	NM_006514.2	616	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS33736.1	1848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATGATACT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	12/27	.	.	.	.	.	.	.	.	COSM3593599	12/27	nonpreferredpair	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,synonymous_variant,p.%3D,ENST00000449082,;	1848	168	125	SUCCESS
APC	324	.	GRCh37	5	112111324	112111324	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	51	0	ENST00000257430.4:c.423-2A>G		p.X141_splice	ENST00000257430	NM_000038.5	141		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4107.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATAGGTCA	BUFFER|p.?|c.423-1G>A|3	.	.	.	.	.	ENSP00000413133	.	.	.	.	.	.	.	.	.	.	CS106641,CS051678,CS043351,COSM1432142	.	nonpreferredpair	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	HIGH	4/15	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	0,0,0,1	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,splice_acceptor_variant,,ENST00000257430,;APC,splice_acceptor_variant,,ENST00000507379,;APC,splice_acceptor_variant,,ENST00000457016,;APC,splice_acceptor_variant,,ENST00000508376,;APC,splice_acceptor_variant,,ENST00000512211,;RNU6-482P,upstream_gene_variant,,ENST00000391068,;APC,splice_acceptor_variant,,ENST00000508624,;CBX3P3,downstream_gene_variant,,ENST00000508108,;	.	51	42	SUCCESS
HDAC3	8841	.	GRCh37	5	141007750	141007750	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	49	164	0	ENST00000305264.3:c.696C>G	p.Tyr232Ter	p.Y232*	ENST00000305264	NM_003883.3	232	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS4264.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTGTAACC	NONE	.	.	hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271	.	.	ENSP00000302967	.	9/15	.	.	.	.	.	.	.	.	.	9/15	nonpreferredpair	ENST00000305264	Transcript	.	.	ENSG00000171720	4854	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC3_HUMAN	HDAC3	HGNC	Q9H368_HUMAN,B5MGH4_HUMAN	.	UPI000003552A	SNV	HDAC3,stop_gained,p.Tyr157Ter,ENST00000523088,;HDAC3,stop_gained,p.Tyr232Ter,ENST00000305264,;AC008781.7,downstream_gene_variant,,ENST00000422040,;HDAC3,non_coding_transcript_exon_variant,,ENST00000459727,;HDAC3,upstream_gene_variant,,ENST00000469207,;HDAC3,3_prime_UTR_variant,,ENST00000519474,;HDAC3,non_coding_transcript_exon_variant,,ENST00000467533,;HDAC3,non_coding_transcript_exon_variant,,ENST00000469550,;HDAC3,non_coding_transcript_exon_variant,,ENST00000492407,;HDAC3,non_coding_transcript_exon_variant,,ENST00000476739,;HDAC3,downstream_gene_variant,,ENST00000495485,;HDAC3,upstream_gene_variant,,ENST00000491581,;HDAC3,upstream_gene_variant,,ENST00000475549,;HDAC3,downstream_gene_variant,,ENST00000471968,;HDAC3,upstream_gene_variant,,ENST00000486618,;HDAC3,downstream_gene_variant,,ENST00000490808,;	776	164	163	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178541281	178541281	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs912743717	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	43	189	0	ENST00000251582.7:c.3223G>A	p.Val1075Ile	p.V1075I	ENST00000251582	NM_014244.4	1075	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS4444.1	3223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGACTTCCA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50900	.	.	ENSP00000251582	.	22/22	.	.	.	.	.	.	.	.	COSM1436471	22/22	nonpreferredpair	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.11)	.	deleterious(0.05)	1	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,missense_variant,p.Val1075Ile,ENST00000251582,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000522937,;ADAMTS2,downstream_gene_variant,,ENST00000523450,;	3325	189	155	SUCCESS
EXOC3	11336	.	GRCh37	5	462103	462103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	69	254	0	ENST00000512944.1:c.1420G>A	p.Glu474Lys	p.E474K	ENST00000512944	NM_007277.4	474	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54830.1	1420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAAGAAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292,Pfam_domain:PF06046	.	.	ENSP00000425587	.	8/13	.	.	.	.	.	.	.	.	.	8/13	nonpreferredpair	ENST00000512944	Transcript	.	.	ENSG00000180104	30378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	EXOC3_HUMAN	EXOC3	HGNC	Q69YP2_HUMAN,D6RBR9_HUMAN,B2RE06_HUMAN	.	UPI000004A021	SNV	EXOC3,missense_variant,p.Glu474Lys,ENST00000315013,;EXOC3,missense_variant,p.Glu474Lys,ENST00000512944,;CTD-2228K2.5,downstream_gene_variant,,ENST00000510714,;EXOC3,missense_variant,p.Glu344Lys,ENST00000503889,;EXOC3,missense_variant,p.Glu359Lys,ENST00000515601,;EXOC3,non_coding_transcript_exon_variant,,ENST00000511015,;EXOC3,downstream_gene_variant,,ENST00000510028,;EXOC3,upstream_gene_variant,,ENST00000505947,;	1609	254	246	SUCCESS
IL6ST	3572	.	GRCh37	5	55260044	55260049	+	inframe_deletion	In_Frame_Del	DEL	GACTTC	GACTTC	-	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	GACTTC	GACTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	111	20	179	0	ENST00000336909.5:c.583_588del	p.Glu195_Val196del	p.E195_V196del	ENST00000336909		195	GAAGTC/-	0	.	.	.	.	.	-	EV/-	protein_coding	YES	CCDS3971.1	583-588	INDELOCATOR*|PINDEL	.	TACCCAGACTTCAATGT	BUFFER|p.S187_Y190delSTVY|c.560_571del12|3,BUFFER|p.Y186_Y190delYSTVY|c.557_571del15|3	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000522633,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000381287,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000336909,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000381298,;IL6ST,inframe_deletion,p.Leu52_Ser54delinsPhe,ENST00000396816,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000536319,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000381294,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Glu195_Val196del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	896-901	179	131	SUCCESS
FAM169A	26049	.	GRCh37	5	74100401	74100401	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748457895	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	37	0	ENST00000389156.4:c.829A>G	p.Met277Val	p.M277V	ENST00000389156	NM_015566.2	277	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS43330.1	829	RADIA|MUTECT|MUSE	.	AGACATAGGTC	NONE	byFrequency	.	hmmpanther:PTHR22442:SF3,hmmpanther:PTHR22442	.	.	ENSP00000373808	.	8/13	.	.	.	.	.	.	.	.	rs748457895	8/13	nonpreferredpair	ENST00000389156	Transcript	.	.	ENSG00000198780	29138	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.52)	.	F169A_HUMAN	FAM169A	HGNC	D6RFI5_HUMAN,D6RC41_HUMAN,D6R953_HUMAN	.	UPI000013E38E	SNV	FAM169A,missense_variant,p.Met217Val,ENST00000510496,;FAM169A,missense_variant,p.Met277Val,ENST00000389156,;FAM169A,3_prime_UTR_variant,,ENST00000380515,;FAM169A,3_prime_UTR_variant,,ENST00000510609,;FAM169A,3_prime_UTR_variant,,ENST00000514215,;CTD-2060C23.1,downstream_gene_variant,,ENST00000511688,;	920	37	18	SUCCESS
TUBB2B	347733	.	GRCh37	6	3225854	3225854	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	19	159	0	ENST00000259818.7:c.469del	p.Glu157LysfsTer8	p.E157Kfs*8	ENST00000259818	NM_178012.4	157	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS4485.1	469	INDELOCATOR|VARSCANI	.	ACTCTTCCCGGA	NONE	.	.	Prints_domain:PR01163,Prints_domain:PR01161,Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF56	.	.	ENSP00000259818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000259818	Transcript	.	.	ENSG00000137285	30829	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBB2B_HUMAN	TUBB2B	HGNC	O43209_HUMAN,A1L195_HUMAN	.	UPI0000024E6E	deletion	TUBB2B,frameshift_variant,p.Glu157LysfsTer8,ENST00000259818,;TUBB2B,non_coding_transcript_exon_variant,,ENST00000473006,;	661	159	141	SUCCESS
ZNF451	26036	.	GRCh37	6	57012123	57012123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	56	0	ENST00000370706.4:c.1240G>A	p.Asp414Asn	p.D414N	ENST00000370706	NM_001031623.2	414	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43477.1	1240	MUTECT|MUSE|VARSCANS	.	CTTCTGACTTG	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436	.	.	ENSP00000359740	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.025)	.	tolerated(0.33)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Asp414Asn,ENST00000357489,;ZNF451,missense_variant,p.Asp414Asn,ENST00000370706,;ZNF451,missense_variant,p.Asp414Asn,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;RP11-203B9.4,downstream_gene_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	1484	56	72	SUCCESS
ZNF800	168850	.	GRCh37	7	127026146	127026146	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	37	0	ENST00000265827.3:c.125G>C	p.Gly42Ala	p.G42A	ENST00000265827	NM_176814.3	42	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS5795.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATACCAGAT	NONE	.	.	hmmpanther:PTHR21020	.	.	ENSP00000376989	.	3/6	.	.	.	.	.	.	.	.	COSM1187426,COSM1187425	3/6	nonpreferredpair	ENST00000393313	Transcript	.	.	ENSG00000048405	27267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	1,1	ZN800_HUMAN	ZNF800	HGNC	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN	.	UPI000020FA03	SNV	ZNF800,missense_variant,p.Gly42Ala,ENST00000393312,;ZNF800,missense_variant,p.Gly42Ala,ENST00000393313,;ZNF800,missense_variant,p.Gly42Ala,ENST00000265827,;ZNF800,missense_variant,p.Gly42Ala,ENST00000439506,;ZNF800,missense_variant,p.Gly42Ala,ENST00000436992,;ZNF800,missense_variant,p.Gly42Ala,ENST00000434602,;	717	37	36	SUCCESS
BET1	10282	.	GRCh37	7	93628605	93628605	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	38	0	ENST00000222547.3:c.21T>C		p.X7_splice	ENST00000222547	NM_005868.4	7	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS5635.1	21	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCACCTGC	NONE	.	.	hmmpanther:PTHR12791	.	.	ENSP00000222547	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000222547	Transcript	.	.	ENSG00000105829	14562	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BET1_HUMAN	BET1	HGNC	Q53XK0_HUMAN	.	UPI000012689A	SNV	BET1,synonymous_variant,p.%3D,ENST00000433727,;BET1,synonymous_variant,p.%3D,ENST00000222547,;BET1,synonymous_variant,p.%3D,ENST00000457139,;BET1,synonymous_variant,p.%3D,ENST00000425626,;AC006378.2,intron_variant,,ENST00000426634,;AC006378.2,intron_variant,,ENST00000426193,;BET1,upstream_gene_variant,,ENST00000471446,;BET1,synonymous_variant,p.%3D,ENST00000357520,;	180	38	42	SUCCESS
WHSC1L1	0	.	GRCh37	8	38133282	38133282	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	81	0	ENST00000317025.8:c.4191T>A	p.Ser1397=	p.S1397=	ENST00000317025	NM_023034.1	1397	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43729.1	4191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCAGAGGG	NONE	.	.	.	.	.	ENSP00000313983	.	24/24	.	.	.	.	.	.	.	.	.	24/24	nonpreferredpair	ENST00000317025	Transcript	.	.	ENSG00000147548	12767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD3_HUMAN	WHSC1L1	HGNC	E9PQ95_HUMAN,E9PKA2_HUMAN	.	UPI000006F297	SNV	WHSC1L1,synonymous_variant,p.%3D,ENST00000433384,;WHSC1L1,synonymous_variant,p.%3D,ENST00000317025,;WHSC1L1,synonymous_variant,p.%3D,ENST00000527502,;RP11-513D5.5,upstream_gene_variant,,ENST00000529325,;DDHD2,downstream_gene_variant,,ENST00000526071,;DDHD2,downstream_gene_variant,,ENST00000529872,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000528828,;	4709	81	63	SUCCESS
HSPA5	3309	.	GRCh37	9	128003101	128003101	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200897884	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	58	229	0	ENST00000324460.6:c.208C>A	p.Pro70Thr	p.P70T	ENST00000324460	NM_005347.4	70	Cct/Act	0	.	A:0	.	A:0	.	T	P/T	protein_coding	YES	CCDS6863.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGAGTGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.30.420.40,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF157	A:0.003	.	ENSP00000324173	A:0	2/8	.	.	.	.	.	.	.	.	rs200897884	2/8	nonpreferredpair	ENST00000324460	Transcript	.	A:0.0006	ENSG00000044574	5238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated_low_confidence(0.16)	.	GRP78_HUMAN	HSPA5	HGNC	.	.	UPI0000001061	SNV	HSPA5,missense_variant,p.Pro70Thr,ENST00000324460,;RP11-65N13.8,upstream_gene_variant,,ENST00000468244,;	412	229	214	SUCCESS
CISD1	55847	.	GRCh37	10	60037077	60037077	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	23	190	0	ENST00000333926.5:c.232A>T	p.Lys78Ter	p.K78*	ENST00000333926	NM_018464.4	78	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS7251.1	232	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAAAAAG	NONE	.	.	hmmpanther:PTHR13680:SF2,hmmpanther:PTHR13680,Pfam_domain:PF09360,SMART_domains:SM00704	.	.	ENSP00000363041	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000333926	Transcript	.	.	ENSG00000122873	30880	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CISD1_HUMAN	CISD1	HGNC	.	.	UPI000012EDFF	SNV	CISD1,stop_gained,p.Lys78Ter,ENST00000333926,;CISD1,non_coding_transcript_exon_variant,,ENST00000464703,;CISD1,non_coding_transcript_exon_variant,,ENST00000488388,;CISD1,non_coding_transcript_exon_variant,,ENST00000489785,;	448	190	158	SUCCESS
TNKS2	80351	.	GRCh37	10	93558647	93558647	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	61	0	ENST00000371627.4:c.199+1G>T		p.X67_splice	ENST00000371627	NM_025235.3	67		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7417.1	.	RADIA|MUTECT|MUSE	.	CGCAGGTAACC	NONE	.	.	.	.	.	ENSP00000360689	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371627	Transcript	.	.	ENSG00000107854	15677	.	.	HIGH	1/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,splice_donor_variant,,ENST00000371627,;TNKS2-AS1,upstream_gene_variant,,ENST00000432246,;TNKS2-AS1,upstream_gene_variant,,ENST00000432938,;	.	61	68	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123489506	123489506	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	99	0	ENST00000529750.1:c.2007A>T	p.Glu669Asp	p.E669D	ENST00000529750	NM_020716.1	669	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS53720.1	2007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAAAGGTA	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.45)	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,missense_variant,p.Glu669Asp,ENST00000322282,;GRAMD1B,missense_variant,p.Glu676Asp,ENST00000456860,;GRAMD1B,missense_variant,p.Glu356Asp,ENST00000450171,;GRAMD1B,missense_variant,p.Glu629Asp,ENST00000529432,;GRAMD1B,missense_variant,p.Glu669Asp,ENST00000529750,;GRAMD1B,splice_region_variant,,ENST00000525945,;GRAMD1B,splice_region_variant,,ENST00000532581,;	2334	99	93	SUCCESS
CCDC15	80071	.	GRCh37	11	124861393	124861393	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372616952	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	56	0	ENST00000344762.5:c.1945G>A	p.Asp649Asn	p.D649N	ENST00000344762	NM_025004.2	649	Gat/Aat	0	T:0.0003	.	.	.	.	A	D/N	protein_coding	YES	CCDS44756.1	1945	MUTECT|MUSE|VARSCANS	.	TGACAGATGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14817	.	T:0	ENSP00000341684	.	9/16	.	.	.	.	.	.	.	.	rs372616952	9/16	PASS	ENST00000344762	Transcript	.	.	ENSG00000149548	25798	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.7)	.	CCD15_HUMAN	CCDC15	HGNC	.	.	UPI0000EE3BEA	SNV	CCDC15,missense_variant,p.Asp649Asn,ENST00000344762,;CCDC15,missense_variant,p.Asp649Asn,ENST00000529051,;	2204	56	42	SUCCESS
OR51D1	390038	.	GRCh37	11	4661048	4661048	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1295960190	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	72	0	ENST00000357605.2:c.28A>G	p.Ile10Val	p.I10V	ENST00000357605	NM_001004751.2	10	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31357.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTATCATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62	.	.	ENSP00000350222	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357605	Transcript	.	.	ENSG00000197428	15193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	O51D1_HUMAN	OR51D1	HGNC	.	.	UPI000004B21E	SNV	OR51D1,missense_variant,p.Ile10Val,ENST00000357605,;OR51E1,upstream_gene_variant,,ENST00000396952,;	104	72	47	SUCCESS
OR51T1	401665	.	GRCh37	11	4903313	4903313	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	89	0	ENST00000322049.1:c.184T>A	p.Tyr62Asn	p.Y62N	ENST00000322049		62	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS31363.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTATTAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000369738	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380378	Transcript	.	.	ENSG00000176900	15205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O51T1_HUMAN	OR51T1	HGNC	.	.	UPI000015F1FF	SNV	OR51T1,missense_variant,p.Tyr89Asn,ENST00000380378,;OR51T1,missense_variant,p.Tyr62Asn,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;OR51H2P,downstream_gene_variant,,ENST00000413036,;	265	89	74	SUCCESS
OTUB1	55611	.	GRCh37	11	63755856	63755856	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	98	1	ENST00000428192.2:c.106C>A	p.Arg36=	p.R36=	ENST00000428192		36	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8055.1	106	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGGACCGAATT	NONE	.	.	hmmpanther:PTHR12931,hmmpanther:PTHR12931:SF16,PIRSF_domain:PIRSF013503	.	.	ENSP00000444357	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000538426	Transcript	.	.	ENSG00000167770	23077	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTUB1_HUMAN	OTUB1	HGNC	F5GYN4_HUMAN	.	UPI000000D868	SNV	OTUB1,synonymous_variant,p.%3D,ENST00000543988,;OTUB1,synonymous_variant,p.%3D,ENST00000543004,;OTUB1,synonymous_variant,p.%3D,ENST00000538426,;OTUB1,synonymous_variant,p.%3D,ENST00000535715,;OTUB1,synonymous_variant,p.%3D,ENST00000422031,;OTUB1,synonymous_variant,p.%3D,ENST00000541478,;OTUB1,synonymous_variant,p.%3D,ENST00000428192,;AP000721.4,downstream_gene_variant,,ENST00000535431,;OTUB1,non_coding_transcript_exon_variant,,ENST00000536443,;OTUB1,synonymous_variant,p.%3D,ENST00000535140,;OTUB1,non_coding_transcript_exon_variant,,ENST00000447683,;OTUB1,non_coding_transcript_exon_variant,,ENST00000301453,;	150	99	74	SUCCESS
NAALADL1	10004	.	GRCh37	11	64820704	64820704	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	29	175	0	ENST00000358658.3:c.1184C>T	p.Thr395Ile	p.T395I	ENST00000358658	NM_005468.2	395	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31604.1	1184	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGTCCCC	NONE	.	.	hmmpanther:PTHR10404:SF40,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000351484	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000358658	Transcript	.	.	ENSG00000168060	23536	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.229)	.	tolerated(0.07)	.	NALDL_HUMAN	NAALADL1	HGNC	E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN	.	UPI000013E761	SNV	NAALADL1,missense_variant,p.Thr360Ile,ENST00000356632,;NAALADL1,missense_variant,p.Thr395Ile,ENST00000339885,;NAALADL1,missense_variant,p.Thr395Ile,ENST00000355369,;NAALADL1,missense_variant,p.Thr395Ile,ENST00000358658,;NAALADL1,missense_variant,p.Thr354Ile,ENST00000355721,;NAALADL1,missense_variant,p.Thr446Ile,ENST00000340252,;NAALADL1,upstream_gene_variant,,ENST00000533340,;NAALADL1,upstream_gene_variant,,ENST00000526799,;NAALADL1,upstream_gene_variant,,ENST00000528884,;NAALADL1,upstream_gene_variant,,ENST00000530995,;RN7SL114P,upstream_gene_variant,,ENST00000582042,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,upstream_gene_variant,,ENST00000532432,;NAALADL1,upstream_gene_variant,,ENST00000524445,;	1212	175	186	SUCCESS
DGAT2	84649	.	GRCh37	11	75509440	75509440	+	synonymous_variant	Silent	SNP	G	G	T	rs780073056	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	82	1	ENST00000228027.7:c.978G>T	p.Gly326=	p.G326=	ENST00000228027	NM_032564.4	326	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31642.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGCTGGT	NONE	.	.	Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF14	.	.	ENSP00000228027	.	7/8	.	.	.	.	.	.	.	.	rs780073056	7/8	PASS	ENST00000228027	Transcript	.	.	ENSG00000062282	16940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGAT2_HUMAN	DGAT2	HGNC	S4R449_HUMAN,S4R3Z3_HUMAN,S4R383_HUMAN	.	UPI0000048F05	SNV	DGAT2,synonymous_variant,p.%3D,ENST00000228027,;DGAT2,synonymous_variant,p.%3D,ENST00000376262,;DGAT2,synonymous_variant,p.%3D,ENST00000604733,;DGAT2,downstream_gene_variant,,ENST00000603276,;DGAT2,downstream_gene_variant,,ENST00000604935,;DGAT2,downstream_gene_variant,,ENST00000605099,;RP11-535A19.1,downstream_gene_variant,,ENST00000534354,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603363,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603865,;	1238	83	54	SUCCESS
GLT8D2	83468	.	GRCh37	12	104388181	104388181	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	17	112	0	ENST00000360814.4:c.699C>G	p.Ala233=	p.A233=	ENST00000360814	NM_031302.3	233	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9096.1	699	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGGCAAC	NONE	.	.	hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448	.	.	ENSP00000354053	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000360814	Transcript	.	.	ENSG00000120820	24890	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GL8D2_HUMAN	GLT8D2	HGNC	F8VZP2_HUMAN	.	UPI000004B633	SNV	GLT8D2,synonymous_variant,p.%3D,ENST00000360814,;GLT8D2,synonymous_variant,p.%3D,ENST00000548660,;GLT8D2,synonymous_variant,p.%3D,ENST00000546436,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000552572,;GLT8D2,downstream_gene_variant,,ENST00000550816,;	1105	112	112	SUCCESS
BTBD11	121551	.	GRCh37	12	108012091	108012091	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	84	0	ENST00000280758.5:c.2388G>T	p.Arg796Ser	p.R796S	ENST00000280758	NM_001018072.1	796	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31893.1	2388	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGAGGC	NONE	.	.	hmmpanther:PTHR24413:SF76,hmmpanther:PTHR24413	.	.	ENSP00000280758	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.427)	.	deleterious(0.01)	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,missense_variant,p.Arg796Ser,ENST00000490090,;BTBD11,missense_variant,p.Arg796Ser,ENST00000280758,;BTBD11,missense_variant,p.Arg333Ser,ENST00000357167,;BTBD11,intron_variant,,ENST00000420571,;RP11-128P10.1,upstream_gene_variant,,ENST00000548473,;	2916	84	74	SUCCESS
SPATS2	65244	.	GRCh37	12	49919817	49919817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	43	282	0	ENST00000321898.6:c.1417A>G	p.Met473Val	p.M473V	ENST00000321898		473	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS31794.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTATGGGT	NONE	.	.	hmmpanther:PTHR15623:SF9,hmmpanther:PTHR15623	.	.	ENSP00000448228	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000553127	Transcript	.	.	ENSG00000123352	18650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.35)	.	SPAS2_HUMAN	SPATS2	HGNC	F8W128_HUMAN,F8VZS5_HUMAN,F8VXP9_HUMAN,F8VXB3_HUMAN,F8VX46_HUMAN,F8VRH4_HUMAN	.	UPI0000171C5F	SNV	SPATS2,missense_variant,p.Met473Val,ENST00000321898,;SPATS2,missense_variant,p.Met473Val,ENST00000553127,;SPATS2,missense_variant,p.Met473Val,ENST00000552918,;SPATS2,intron_variant,,ENST00000547003,;SPATS2,3_prime_UTR_variant,,ENST00000549412,;SPATS2,downstream_gene_variant,,ENST00000548727,;	1930	282	207	SUCCESS
ASIC1	41	.	GRCh37	12	50473752	50473752	+	synonymous_variant	Silent	SNP	C	C	T	rs1171844385	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	46	282	0	ENST00000447966.2:c.1119C>T	p.Gly373=	p.G373=	ENST00000447966	NM_001095.3	373	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8796.1	1119	RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCAAAGA	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110,Pfam_domain:PF00858,Prints_domain:PR01078	.	.	ENSP00000228468	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000228468	Transcript	.	.	ENSG00000110881	100	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASIC1_HUMAN	ASIC1	HGNC	.	.	UPI000013C8D6	SNV	ASIC1,synonymous_variant,p.%3D,ENST00000228468,;ASIC1,synonymous_variant,p.%3D,ENST00000552438,;ASIC1,synonymous_variant,p.%3D,ENST00000453327,;ASIC1,synonymous_variant,p.%3D,ENST00000447966,;ASIC1,upstream_gene_variant,,ENST00000552633,;ASIC1,3_prime_UTR_variant,,ENST00000550558,;ASIC1,non_coding_transcript_exon_variant,,ENST00000551199,;ASIC1,downstream_gene_variant,,ENST00000549792,;ASIC1,downstream_gene_variant,,ENST00000548350,;	1504	282	277	SUCCESS
RAB3IP	117177	.	GRCh37	12	70206599	70206599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1156530661	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	102	0	ENST00000550536.1:c.1220G>A	p.Arg407Lys	p.R407K	ENST00000550536	NM_175623.3	407	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS8993.1	1220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGAATTA	NONE	.	.	hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430	.	.	ENSP00000447300	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000550536	Transcript	.	.	ENSG00000127328	16508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.04)	.	RAB3I_HUMAN	RAB3IP	HGNC	F8VNX9_HUMAN	.	UPI000006EB02	SNV	RAB3IP,missense_variant,p.Arg98Lys,ENST00000550847,;RAB3IP,missense_variant,p.Arg185Lys,ENST00000553099,;RAB3IP,missense_variant,p.Arg407Lys,ENST00000550536,;RAB3IP,missense_variant,p.Arg391Lys,ENST00000247833,;RAB3IP,missense_variant,p.Arg185Lys,ENST00000325555,;RAB3IP,missense_variant,p.Arg123Lys,ENST00000526994,;RAB3IP,missense_variant,p.Arg185Lys,ENST00000551641,;RAB3IP,3_prime_UTR_variant,,ENST00000550647,;RAB3IP,intron_variant,,ENST00000483530,;RAB3IP,intron_variant,,ENST00000362025,;AC025263.3,missense_variant,p.Arg32Lys,ENST00000550437,;RAB3IP,3_prime_UTR_variant,,ENST00000552199,;RAB3IP,3_prime_UTR_variant,,ENST00000417413,;RAB3IP,non_coding_transcript_exon_variant,,ENST00000552610,;RAB3IP,non_coding_transcript_exon_variant,,ENST00000481897,;RAB3IP,intron_variant,,ENST00000378809,;	1677	102	66	SUCCESS
DAAM1	23002	.	GRCh37	14	59821978	59821978	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	97	0	ENST00000395125.1:c.2482C>G	p.Gln828Glu	p.Q828E	ENST00000395125	NM_014992.2	828	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9737.1	2482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCAAAGA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000378557	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000395125	Transcript	.	.	ENSG00000100592	18142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.09)	.	DAAM1_HUMAN	DAAM1	HGNC	.	.	UPI0000161FAA	SNV	DAAM1,missense_variant,p.Gln828Glu,ENST00000351081,;DAAM1,missense_variant,p.Gln828Glu,ENST00000395125,;DAAM1,missense_variant,p.Gln818Glu,ENST00000360909,;DAAM1,non_coding_transcript_exon_variant,,ENST00000554459,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553966,;DAAM1,upstream_gene_variant,,ENST00000557029,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553307,;DAAM1,upstream_gene_variant,,ENST00000557628,;	2505	97	57	SUCCESS
DHRS7	51635	.	GRCh37	14	60631900	60631900	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	19	172	0	ENST00000216500.5:c.128G>A	p.Arg43His	p.R43H	ENST00000216500		43	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9743.1	128	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGTCGT	NONE	.	.	PIRSF_domain:PIRSF000126	.	.	ENSP00000216500	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000216500	Transcript	.	.	ENSG00000100612	21524	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.06)	.	DHRS7_HUMAN	DHRS7	HGNC	G3V5J0_HUMAN	.	UPI000004C78C	SNV	DHRS7,missense_variant,p.Arg43His,ENST00000557137,;DHRS7,missense_variant,p.Arg43His,ENST00000557185,;DHRS7,missense_variant,p.Arg43His,ENST00000557326,;DHRS7,missense_variant,p.Arg43His,ENST00000216500,;DHRS7,missense_variant,p.Arg38His,ENST00000554101,;DHRS7,intron_variant,,ENST00000536410,;PCNXL4,intron_variant,,ENST00000406949,;PCNXL4,intron_variant,,ENST00000553898,;DHRS7,downstream_gene_variant,,ENST00000553328,;DHRS7,non_coding_transcript_exon_variant,,ENST00000555171,;DHRS7,non_coding_transcript_exon_variant,,ENST00000556502,;	584	172	177	SUCCESS
FAM227B	196951	.	GRCh37	15	49620847	49620850	+	frameshift_variant	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs762888521	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	TCTC	TCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	72	0	ENST00000299338.6:c.1442_1445del	p.Arg481AsnfsTer33	p.R481Nfs*33	ENST00000299338	NM_152647.2	481	aGAGAa/aa	0	.	.	.	.	.	-	RE/X	protein_coding	YES	CCDS32237.1	1442-1445	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACATTCTCTCTCA	NONE	byFrequency	.	.	.	.	ENSP00000299338	.	16/16	.	.	.	.	.	.	.	.	rs762888521	16/16	PASS	ENST00000299338	Transcript	.	.	ENSG00000166262	26543	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F227B_HUMAN	FAM227B	HGNC	H0YLX5_HUMAN	.	UPI0000D6133A	deletion	FAM227B,frameshift_variant,p.Arg481AsnfsTer33,ENST00000299338,;FAM227B,3_prime_UTR_variant,,ENST00000559573,;GALK2,3_prime_UTR_variant,,ENST00000327171,;GALK2,intron_variant,,ENST00000558399,;GALK2,intron_variant,,ENST00000560528,;GALK2,intron_variant,,ENST00000559580,;GALK2,downstream_gene_variant,,ENST00000559454,;GALK2,downstream_gene_variant,,ENST00000560031,;GALK2,downstream_gene_variant,,ENST00000543495,;GALK2,downstream_gene_variant,,ENST00000396509,;GALK2,downstream_gene_variant,,ENST00000544523,;FAM227B,non_coding_transcript_exon_variant,,ENST00000560557,;GALK2,downstream_gene_variant,,ENST00000560119,;	1746-1749	72	62	SUCCESS
SMG1	23049	.	GRCh37	16	18853630	18853630	+	synonymous_variant	Silent	SNP	A	A	G	rs754045372	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	105	0	ENST00000446231.2:c.6366T>C	p.His2122=	p.H2122=	ENST00000446231		2122	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS45430.1	6366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTATGGAT	NONE	byFrequency	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112	.	.	ENSP00000402515	.	40/63	.	.	.	.	.	.	.	.	rs754045372	40/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,synonymous_variant,p.%3D,ENST00000389467,;SMG1,synonymous_variant,p.%3D,ENST00000565324,;SMG1,synonymous_variant,p.%3D,ENST00000446231,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;	6779	105	76	SUCCESS
TSC2	7249	.	GRCh37	16	2136306	2136311	+	inframe_deletion	In_Frame_Del	DEL	TGTACC	TGTACC	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	TGTACC	TGTACC	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	215	0	ENST00000219476.3:c.4777_4782del	p.Tyr1593_Leu1594del	p.Y1593_L1594del	ENST00000219476	NM_000548.3	1592	gTGTACCtg/gtg	0	.	.	.	.	.	-	VYL/V	protein_coding	YES	CCDS10458.1	4775-4780	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAGGTGTACCTGGGA	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000219476	.	37/42	.	.	.	.	.	.	.	.	.	37/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,inframe_deletion,p.Tyr1490_Leu1491del,ENST00000439673,;TSC2,inframe_deletion,p.Tyr1593_Leu1594del,ENST00000219476,;TSC2,inframe_deletion,p.Tyr1537_Leu1538del,ENST00000568454,;TSC2,inframe_deletion,p.Tyr321_Leu322del,ENST00000569110,;TSC2,inframe_deletion,p.Tyr1526_Leu1527del,ENST00000401874,;TSC2,inframe_deletion,p.Tyr1550_Leu1551del,ENST00000353929,;TSC2,inframe_deletion,p.Tyr1570_Leu1571del,ENST00000350773,;TSC2,inframe_deletion,p.Tyr1478_Leu1479del,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;MIR1225,downstream_gene_variant,,ENST00000408729,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000564313,;	5405-5410	215	153	SUCCESS
PALB2	79728	.	GRCh37	16	23646654	23646654	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs545119348	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	32	0	ENST00000261584.4:c.1213C>A	p.Pro405Thr	p.P405T	ENST00000261584	NM_024675.3	405	Cct/Act	0	.	C:0	.	C:0	.	T	P/T	protein_coding	YES	CCDS32406.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGAAACA	NONE	by1000G	.	hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662	C:0.001	.	ENSP00000261584	C:0	4/13	.	.	.	.	.	.	.	.	rs545119348	4/13	PASS	ENST00000261584	Transcript	.	C:0.0002	ENSG00000083093	26144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	C:0	deleterious(0)	.	PALB2_HUMAN	PALB2	HGNC	.	.	UPI000000DA86	SNV	PALB2,missense_variant,p.Pro405Thr,ENST00000261584,;PALB2,downstream_gene_variant,,ENST00000561514,;PALB2,3_prime_UTR_variant,,ENST00000568219,;PALB2,intron_variant,,ENST00000565038,;PALB2,downstream_gene_variant,,ENST00000567003,;	1366	32	21	SUCCESS
NLRC5	84166	.	GRCh37	16	57060281	57060281	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	85	0	ENST00000262510.6:c.1426T>A	p.Tyr476Asn	p.Y476N	ENST00000262510	NM_032206.4	476	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS10773.1	1426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTATGCA	NONE	.	.	hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106	.	.	ENSP00000262510	.	6/49	.	.	.	.	.	.	.	.	.	6/49	PASS	ENST00000262510	Transcript	.	.	ENSG00000140853	29933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	.	tolerated(0.12)	.	NLRC5_HUMAN	NLRC5	HGNC	F5H274_HUMAN,F5GYP0_HUMAN	.	UPI00001AEE94	SNV	NLRC5,missense_variant,p.Tyr476Asn,ENST00000308149,;NLRC5,missense_variant,p.Tyr229Asn,ENST00000538805,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000539144,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000436936,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000262510,;NLRC5,upstream_gene_variant,,ENST00000543030,;NLRC5,upstream_gene_variant,,ENST00000538110,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000539881,;NLRC5,missense_variant,p.Tyr204Asn,ENST00000545081,;NLRC5,upstream_gene_variant,,ENST00000536231,;	1651	85	58	SUCCESS
ADAD2	161931	.	GRCh37	16	84228660	84228660	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	C	C	G	rs377393194	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	107	0	ENST00000315906.5:c.608-15C>G		p.*203*	ENST00000315906	NM_001145400.1			0	G:0	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS10944.1	.	MUTECT|MUSE|VARSCANS	.	AGTCTCTCGCC	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0001	ENSP00000268624	G:0	.	.	.	.	.	.	.	.	.	rs377393194	.	PASS	ENST00000268624	Transcript	.	G:0.0004	ENSG00000140955	30714	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	3	.	.	.	.	G:0.002	.	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,intron_variant,,ENST00000315906,;ADAD2,intron_variant,,ENST00000567685,;ADAD2,intron_variant,,ENST00000268624,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000569834,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,intron_variant,,ENST00000566526,;ADAD2,intron_variant,,ENST00000564169,;ADAD2,intron_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;	.	107	110	SUCCESS
ANKFN1	162282	.	GRCh37	17	54535232	54535232	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	73	0	ENST00000318698.2:c.1458T>C	p.Cys486=	p.C486=	ENST00000318698	NM_153228.2	486	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS32686.1	1458	MUTECT|MUSE	.	TCTTGTATGTG	NONE	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,synonymous_variant,p.%3D,ENST00000318698,;ANKFN1,synonymous_variant,p.%3D,ENST00000566473,;ANKFN1,non_coding_transcript_exon_variant,,ENST00000572321,;	1493	73	47	SUCCESS
SLC2A4	6517	.	GRCh37	17	7187403	7187403	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748046529	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	79	0	ENST00000317370.8:c.559G>T	p.Ala187Ser	p.A187S	ENST00000317370	NM_001042.2	187	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11097.1	559	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCGCCCAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF14,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000320935	.	5/11	.	.	.	.	.	.	.	.	rs748046529	5/11	PASS	ENST00000317370	Transcript	.	.	ENSG00000181856	11009	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.79)	.	tolerated(0.85)	.	GTR4_HUMAN	SLC2A4	HGNC	.	.	UPI000004F0B3	SNV	SLC2A4,missense_variant,p.Ala187Ser,ENST00000317370,;SLC2A4,missense_variant,p.Ala177Ser,ENST00000424875,;SLC2A4,missense_variant,p.Ala187Ser,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000571464,;YBX2,downstream_gene_variant,,ENST00000007699,;RP1-4G17.2,upstream_gene_variant,,ENST00000576271,;SLC2A4,missense_variant,p.Ala187Ser,ENST00000572485,;SLC2A4,intron_variant,,ENST00000570783,;YBX2,downstream_gene_variant,,ENST00000571485,;YBX2,downstream_gene_variant,,ENST00000571834,;	827	79	53	SUCCESS
TP53	7157	.	GRCh37	17	7576633	7576633	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	95	0	ENST00000269305.4:c.993+220A>G		p.*331*	ENST00000269305	NM_001126112.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATTTTCTT	CODON|p.0?|c.1_1182del1182|6	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Asn340Asp,ENST00000420246,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000269305,;TP53,intron_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000445888,;TP53,intron_variant,,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,intron_variant,,ENST00000504937,;TP53,intron_variant,,ENST00000504290,;TP53,downstream_gene_variant,,ENST00000505014,;	.	95	40	SUCCESS
DNAH17	8632	.	GRCh37	17	76482177	76482177	+	synonymous_variant	Silent	SNP	G	G	T	rs555133387	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	71	0	ENST00000389840.5:c.7098C>A	p.Ile2366=	p.I2366=	ENST00000389840		2366	atC/atA	0	.	A:0	.	A:0.0029	.	T	I	protein_coding	YES	.	7098	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTGATCCA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	A:0	.	ENSP00000374490	A:0	46/81	.	.	.	.	.	.	.	.	rs555133387	46/81	PASS	ENST00000389840	Transcript	.	A:0.0004	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;RP11-559N14.5,intron_variant,,ENST00000585969,;RP11-559N14.5,intron_variant,,ENST00000588565,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;	7223	71	39	SUCCESS
GREB1L	80000	.	GRCh37	18	19079942	19079942	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1462784198	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	55	0	ENST00000424526.1:c.3644G>A	p.Gly1215Glu	p.G1215E	ENST00000424526	NM_001142966.1	1215	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45836.1	3644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGGACAGC	NONE	.	.	hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720	.	.	ENSP00000464162	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000580732	Transcript	.	.	ENSG00000141449	31042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.11)	.	GRB1L_HUMAN	GREB1L	HGNC	.	.	UPI0001642876	SNV	GREB1L,missense_variant,p.Gly1106Glu,ENST00000269218,;GREB1L,missense_variant,p.Gly1215Glu,ENST00000424526,;GREB1L,missense_variant,p.Gly1215Glu,ENST00000580732,;GREB1L,3_prime_UTR_variant,,ENST00000400483,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578955,;	4025	55	50	SUCCESS
JAK3	3718	.	GRCh37	19	17943612	17943612	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	30	241	0	ENST00000458235.1:c.2477C>T	p.Ser826Leu	p.S826L	ENST00000458235	NM_000215.3	826	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS12366.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGAGATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000391676	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	tolerated(0.06)	.	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Ser826Leu,ENST00000458235,;JAK3,missense_variant,p.Ser826Leu,ENST00000534444,;JAK3,missense_variant,p.Ser826Leu,ENST00000527670,;JAK3,intron_variant,,ENST00000527031,;	2577	241	179	SUCCESS
NCLN	56926	.	GRCh37	19	3206308	3206308	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	97	0	ENST00000246117.4:c.1384C>T	p.Gln462Ter	p.Q462*	ENST00000246117	NM_020170.3	462	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32869.1	1384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCAGCCG	NONE	.	.	hmmpanther:PTHR31826:SF1,hmmpanther:PTHR31826,PIRSF_domain:PIRSF011018	.	.	ENSP00000246117	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000246117	Transcript	.	.	ENSG00000125912	26923	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCLN_HUMAN	NCLN	HGNC	K7EMW4_HUMAN,B2RA56_HUMAN	.	UPI0000203033	SNV	NCLN,stop_gained,p.Gln388Ter,ENST00000590671,;NCLN,stop_gained,p.Gln462Ter,ENST00000246117,;NCLN,stop_gained,p.Gln181Ter,ENST00000592737,;NCLN,upstream_gene_variant,,ENST00000592235,;NCLN,downstream_gene_variant,,ENST00000588428,;NCLN,upstream_gene_variant,,ENST00000591062,;NCLN,stop_gained,p.Gln249Ter,ENST00000587740,;NCLN,3_prime_UTR_variant,,ENST00000586904,;	1815	97	100	SUCCESS
RYR1	6261	.	GRCh37	19	39071081	39071081	+	synonymous_variant	Silent	SNP	C	C	T	rs755854964	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	39	216	0	ENST00000359596.3:c.14583C>T	p.Arg4861=	p.R4861=	ENST00000359596		4861	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33011.1	14583	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGCAAGTT	NONE	byFrequency	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF00520	.	.	ENSP00000352608	.	101/106	.	.	.	.	.	.	.	.	rs755854964	101/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;	14583	216	232	SUCCESS
PHLDB3	653583	.	GRCh37	19	43990929	43990929	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	66	0	ENST00000292140.5:c.1340+3G>A		p.X447_splice	ENST00000292140	NM_198850.3	447		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12621.2	.	RADIA|MUSE|VARSCANS	.	TGTCTCACCTA	NONE	.	.	.	.	.	ENSP00000292140	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292140	Transcript	.	.	ENSG00000176531	30499	.	.	LOW	11/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHLB3_HUMAN	PHLDB3	HGNC	M0R3I7_HUMAN,M0R038_HUMAN	.	UPI00015C725F	SNV	PHLDB3,splice_region_variant,,ENST00000292140,;PHLDB3,splice_region_variant,,ENST00000596141,;PHLDB3,intron_variant,,ENST00000600660,;PHLDB3,splice_region_variant,,ENST00000595498,;PHLDB3,splice_region_variant,,ENST00000598849,;	.	66	81	SUCCESS
C19orf10	0	.	GRCh37	19	4664897	4664897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	128	0	ENST00000262947.3:c.278C>A	p.Thr93Asn	p.T93N	ENST00000262947	NM_019107.3	93	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS12133.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGTGCAG	NONE	.	.	hmmpanther:PTHR31230:SF1,hmmpanther:PTHR31230,Pfam_domain:PF10572	.	.	ENSP00000262947	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000262947	Transcript	.	.	ENSG00000074842	16948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.399)	.	deleterious(0.05)	.	CS010_HUMAN	C19orf10	HGNC	.	.	UPI00000711E5	SNV	C19orf10,missense_variant,p.Thr93Asn,ENST00000262947,;C19orf10,missense_variant,p.Thr8Asn,ENST00000599761,;C19orf10,missense_variant,p.Thr93Asn,ENST00000599630,;C19orf10,non_coding_transcript_exon_variant,,ENST00000596031,;	314	128	83	SUCCESS
CD37	951	.	GRCh37	19	49841271	49841271	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	54	160	0	ENST00000323906.4:c.432C>G	p.Asp144Glu	p.D144E	ENST00000323906	NM_001774.2	144	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS12760.1	432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACTATGT	NONE	.	.	hmmpanther:PTHR19282:SF185,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000325708	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000323906	Transcript	.	.	ENSG00000104894	1666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.463)	.	tolerated(0.06)	.	CD37_HUMAN	CD37	HGNC	M0R083_HUMAN	.	UPI0000127350	SNV	CD37,missense_variant,p.Asp144Glu,ENST00000323906,;CD37,missense_variant,p.Asp144Glu,ENST00000535669,;CD37,missense_variant,p.Asp33Glu,ENST00000594743,;CD37,missense_variant,p.Asp76Glu,ENST00000426897,;CD37,missense_variant,p.Asp76Glu,ENST00000598095,;TEAD2,downstream_gene_variant,,ENST00000311227,;TEAD2,downstream_gene_variant,,ENST00000598810,;TEAD2,downstream_gene_variant,,ENST00000377214,;TEAD2,downstream_gene_variant,,ENST00000593945,;CD37,downstream_gene_variant,,ENST00000597602,;TEAD2,downstream_gene_variant,,ENST00000539846,;CD37,downstream_gene_variant,,ENST00000595660,;TEAD2,downstream_gene_variant,,ENST00000601519,;CTC-301O7.4,intron_variant,,ENST00000358234,;CTC-301O7.4,intron_variant,,ENST00000602554,;CTC-301O7.4,downstream_gene_variant,,ENST00000602721,;CD37,non_coding_transcript_exon_variant,,ENST00000596426,;CD37,downstream_gene_variant,,ENST00000597033,;CD37,upstream_gene_variant,,ENST00000600121,;CD37,3_prime_UTR_variant,,ENST00000391859,;CD37,3_prime_UTR_variant,,ENST00000595725,;CD37,non_coding_transcript_exon_variant,,ENST00000597852,;CD37,downstream_gene_variant,,ENST00000593512,;CD37,downstream_gene_variant,,ENST00000598134,;	573	160	173	SUCCESS
A1BG	1	.	GRCh37	19	58862780	58862780	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs542119157	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	57	0	ENST00000263100.3:c.887C>T	p.Pro296Leu	p.P296L	ENST00000263100	NM_130786.3	296	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS12976.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCGGCGCG	NONE	by1000G	.	hmmpanther:PTHR11738:SF3,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	A:0	.	ENSP00000263100	A:0	5/8	.	.	.	.	.	.	.	.	rs542119157,COSM1735117	5/8	PASS	ENST00000263100	Transcript	.	A:0.0002	ENSG00000121410	5	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.996)	A:0.001	deleterious(0)	0,1	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	SNV	A1BG,missense_variant,p.Pro279Leu,ENST00000600966,;A1BG,missense_variant,p.Pro296Leu,ENST00000263100,;ZNF497,downstream_gene_variant,,ENST00000425453,;ZNF497,downstream_gene_variant,,ENST00000311044,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;A1BG-AS1,upstream_gene_variant,,ENST00000595302,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	949	57	86	SUCCESS
PTPN22	26191	.	GRCh37	1	114380848	114380848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	45	0	ENST00000359785.5:c.1174G>A	p.Asp392Asn	p.D392N	ENST00000359785	NM_015967.5	392	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS863.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTCAGCAT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF260,PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.38)	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Asp337Asn,ENST00000528414,;PTPN22,missense_variant,p.Asp392Asn,ENST00000420377,;PTPN22,missense_variant,p.Asp392Asn,ENST00000359785,;PTPN22,missense_variant,p.Asp265Asn,ENST00000525799,;PTPN22,missense_variant,p.Asp148Asn,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	1310	45	47	SUCCESS
HIPK1	204851	.	GRCh37	1	114505036	114505036	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755205995	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	70	1	ENST00000369558.1:c.2079G>T	p.Gln693His	p.Q693H	ENST00000369558		693	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS867.1	2079	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGATTCA	NONE	.	.	hmmpanther:PTHR24058:SF43,hmmpanther:PTHR24058,Low_complexity_(Seg):seg	.	.	ENSP00000358571	.	9/16	.	.	.	.	.	.	.	.	rs755205995	9/16	PASS	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.274)	.	tolerated(0.16)	.	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,missense_variant,p.Gln659His,ENST00000369561,;HIPK1,missense_variant,p.Gln693His,ENST00000369554,;HIPK1,missense_variant,p.Gln299His,ENST00000406344,;HIPK1,missense_variant,p.Gln693His,ENST00000426820,;HIPK1,missense_variant,p.Gln299His,ENST00000369553,;HIPK1,missense_variant,p.Gln693His,ENST00000369559,;HIPK1,missense_variant,p.Gln693His,ENST00000369558,;HIPK1,missense_variant,p.Gln693His,ENST00000369555,;HIPK1,missense_variant,p.Gln319His,ENST00000340480,;HIPK1,upstream_gene_variant,,ENST00000361587,;	2311	71	67	SUCCESS
DVL1	1855	.	GRCh37	1	1277480	1277480	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147424815	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	24	135	0	ENST00000378888.5:c.419T>C	p.Met140Thr	p.M140T	ENST00000378888		140	aTg/aCg	0	G:0	.	.	.	.	G	M/T	protein_coding	YES	CCDS22.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCATGGAC	NONE	byCluster	.	hmmpanther:PTHR10878:SF5,hmmpanther:PTHR10878	.	G:0.0001	ENSP00000368169	.	4/15	.	.	.	.	.	.	.	.	rs147424815	4/15	PASS	ENST00000378891	Transcript	.	.	ENSG00000107404	3084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.16)	.	DVL1_HUMAN	DVL1	HGNC	Q6PJD6_HUMAN,B7Z6B5_HUMAN,B7Z1E8_HUMAN	.	UPI000013D455	SNV	DVL1,missense_variant,p.Met140Thr,ENST00000378891,;DVL1,missense_variant,p.Met140Thr,ENST00000378888,;DVL1,non_coding_transcript_exon_variant,,ENST00000472445,;	466	135	132	SUCCESS
OR10J5	127385	.	GRCh37	1	159504893	159504893	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	44	0	ENST00000334857.2:c.905G>C	p.Arg302Thr	p.R302T	ENST00000334857	NM_001004469.1	302	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS30910.1	905	RADIA|VARSCANS	.	CAACTCTGCAT	NONE	.	.	hmmpanther:PTHR24247:SF65,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334441	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334857	Transcript	.	.	ENSG00000184155	14993	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.938)	.	deleterious(0.01)	.	O10J5_HUMAN	OR10J5	HGNC	.	.	UPI0000041E4E	SNV	OR10J5,missense_variant,p.Arg302Thr,ENST00000334857,;	950	44	48	SUCCESS
FCRLB	127943	.	GRCh37	1	161697408	161697408	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	101	0	ENST00000367948.2:c.1237G>A	p.Ala413Thr	p.A413T	ENST00000367948		413	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS30927.1	1237	MUTECT|MUSE	.	ACTTTGCTGTG	NONE	.	.	hmmpanther:PTHR11481:SF46,hmmpanther:PTHR11481	.	.	ENSP00000356925	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367948	Transcript	.	.	ENSG00000162746	26431	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	deleterious_low_confidence(0.05)	.	FCRLB_HUMAN	FCRLB	HGNC	.	.	UPI00003FF782	SNV	FCRLB,missense_variant,p.Ala413Thr,ENST00000367948,;FCRLB,missense_variant,p.Ala413Thr,ENST00000392158,;FCRLB,3_prime_UTR_variant,,ENST00000367944,;FCRLB,3_prime_UTR_variant,,ENST00000336830,;FCRLB,3_prime_UTR_variant,,ENST00000367946,;FCRLB,3_prime_UTR_variant,,ENST00000367945,;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;	1452	101	108	SUCCESS
MFAP2	4237	.	GRCh37	1	17301519	17301519	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	70	0	ENST00000375535.3:c.449-1G>C		p.X150_splice	ENST00000375535		150		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS174.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCTATTG	NONE	.	.	.	.	.	ENSP00000364685	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375535	Transcript	.	.	ENSG00000117122	7033	.	.	HIGH	8/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MFAP2_HUMAN	MFAP2	HGNC	.	.	UPI000012F02C	SNV	MFAP2,splice_acceptor_variant,,ENST00000438542,;MFAP2,splice_acceptor_variant,,ENST00000375534,;MFAP2,splice_acceptor_variant,,ENST00000375535,;CROCC,downstream_gene_variant,,ENST00000375541,;RP1-37C10.3,upstream_gene_variant,,ENST00000446261,;MFAP2,splice_acceptor_variant,,ENST00000490075,;MFAP2,downstream_gene_variant,,ENST00000476788,;MFAP2,downstream_gene_variant,,ENST00000478684,;CROCC,downstream_gene_variant,,ENST00000465021,;CROCC,downstream_gene_variant,,ENST00000465291,;MFAP2,downstream_gene_variant,,ENST00000492598,;	.	70	64	SUCCESS
CACNA1E	777	.	GRCh37	1	181767462	181767462	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs189356042	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	31	0	ENST00000367573.2:c.6434C>G	p.Ser2145Cys	p.S2145C	ENST00000367573	NM_001205293.1	2145	tCt/tGt	0	.	T:0.0008	.	T:0	.	G	S/C	protein_coding	YES	CCDS55664.1	6434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCTGTCT	NONE	by1000G	.	.	T:0	.	ENSP00000356545	T:0	48/48	.	.	.	.	.	.	.	.	rs189356042,COSM3479841,COSM3479842,COSM3479840	48/48	PASS	ENST00000367573	Transcript	.	T:0.0002	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.971)	T:0	deleterious(0)	0,1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ser2034Cys,ENST00000358338,;CACNA1E,missense_variant,p.Ser1709Cys,ENST00000367567,;CACNA1E,missense_variant,p.Ser2096Cys,ENST00000357570,;CACNA1E,missense_variant,p.Ser2126Cys,ENST00000360108,;CACNA1E,missense_variant,p.Ser2083Cys,ENST00000526775,;CACNA1E,missense_variant,p.Ser2145Cys,ENST00000367573,;CACNA1E,missense_variant,p.Ser2102Cys,ENST00000367570,;	6434	31	33	SUCCESS
KCNH1	3756	.	GRCh37	1	211192479	211192479	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	6	107	0	ENST00000271751.4:c.678C>G	p.Ile226Met	p.I226M	ENST00000271751		226	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1496.1	678	MUTECT|MUSE	.	GTCAAGATCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000271751	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Ile226Met,ENST00000367007,;KCNH1,missense_variant,p.Ile226Met,ENST00000271751,;	706	107	145	SUCCESS
PARP1	142	.	GRCh37	1	226595632	226595632	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	35	115	0	ENST00000366794.5:c.-2G>T		p.*1*	ENST00000366794	NM_001618.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1554.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCTCCCC	NONE	.	.	.	.	.	ENSP00000355759	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000366794	Transcript	.	.	ENSG00000143799	270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP1_HUMAN	PARP1	HGNC	Q96P95_HUMAN	.	UPI000013D92D	SNV	PARP1,5_prime_UTR_variant,,ENST00000366792,;PARP1,5_prime_UTR_variant,,ENST00000366790,;PARP1,5_prime_UTR_variant,,ENST00000366794,;PARP1,5_prime_UTR_variant,,ENST00000366791,;RP11-118H4.3,downstream_gene_variant,,ENST00000604335,;	143	115	151	SUCCESS
TRIM67	440730	.	GRCh37	1	231344856	231344857	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	237	71	221	0	ENST00000366653.5:c.1985dup	p.Asn662LysfsTer24	p.N662Kfs*24	ENST00000366653		661	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS44333.1	1983-1984	INDELOCATOR*|VARSCANI*|PINDEL	.	TACGACAACCA	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	.	ENSP00000355613	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	insertion	TRIM67,frameshift_variant,p.Asn660LysfsTer24,ENST00000444294,;TRIM67,frameshift_variant,p.Asn662LysfsTer24,ENST00000366652,;TRIM67,frameshift_variant,p.Asn600LysfsTer24,ENST00000449018,;TRIM67,frameshift_variant,p.Asn662LysfsTer24,ENST00000366653,;	1983-1984	221	308	SUCCESS
LYST	1130	.	GRCh37	1	235973623	235973623	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	75	0	ENST00000389793.2:c.495C>A	p.Thr165=	p.T165=	ENST00000389793	NM_000081.3	165	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31062.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGGTGGA	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	5/53	.	.	.	.	.	.	.	.	.	5/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000536965,;LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	670	75	81	SUCCESS
RYR2	6262	.	GRCh37	1	237778097	237778097	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	27	171	0	ENST00000366574.2:c.5669A>C	p.Lys1890Thr	p.K1890T	ENST00000366574	NM_001035.2	1890	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS55691.1	5669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAAGGAAG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	37/105	.	.	.	.	.	.	.	.	.	37/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Lys1874Thr,ENST00000542537,;RYR2,missense_variant,p.Lys1890Thr,ENST00000366574,;RYR2,missense_variant,p.Lys1888Thr,ENST00000360064,;	5986	171	138	SUCCESS
FGR	2268	.	GRCh37	1	27941376	27941376	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	16	172	0	ENST00000374003.3:c.1080G>T	p.Val360=	p.V360=	ENST00000374003	NM_001042729.1	360	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS305.1	1080	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCACCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF224,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000363117	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,synonymous_variant,p.%3D,ENST00000545953,;FGR,synonymous_variant,p.%3D,ENST00000374004,;FGR,synonymous_variant,p.%3D,ENST00000399173,;FGR,synonymous_variant,p.%3D,ENST00000374003,;FGR,synonymous_variant,p.%3D,ENST00000374005,;FGR,downstream_gene_variant,,ENST00000457296,;	1369	172	128	SUCCESS
IPP	3652	.	GRCh37	1	46165836	46165836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	35	0	ENST00000396478.3:c.1557G>T	p.Met519Ile	p.M519I	ENST00000396478	NM_005897.2	519	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS30702.1	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCATTGA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF35,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0047741	.	.	ENSP00000379739	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000396478	Transcript	.	.	ENSG00000197429	6108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	IPP_HUMAN	IPP	HGNC	.	.	UPI000012D80B	SNV	IPP,missense_variant,p.Met519Ile,ENST00000396478,;IPP,missense_variant,p.Met519Ile,ENST00000359942,;RP11-767N6.7,upstream_gene_variant,,ENST00000430643,;IPP,non_coding_transcript_exon_variant,,ENST00000495072,;IPP,upstream_gene_variant,,ENST00000461718,;	1660	35	31	SUCCESS
CAMTA1	23261	.	GRCh37	1	7700465	7700465	+	synonymous_variant	Silent	SNP	C	C	T	rs775725704	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	130	0	ENST00000303635.7:c.516C>T	p.Pro172=	p.P172=	ENST00000303635	NM_015215.2	172	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS30576.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCCGACAT	NONE	byFrequency	.	PROSITE_profiles:PS51437,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Pfam_domain:PF03859,SMART_domains:SM01076	.	.	ENSP00000306522	.	7/23	.	.	.	.	.	.	.	.	rs775725704	7/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,synonymous_variant,p.%3D,ENST00000303635,;CAMTA1,synonymous_variant,p.%3D,ENST00000439411,;	723	130	117	SUCCESS
SEC23B	10483	.	GRCh37	20	18505223	18505223	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	135	0	ENST00000262544.2:c.513G>C	p.Arg171Ser	p.R171S	ENST00000262544		171	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS13137.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGATGGT	NONE	.	.	hmmpanther:PTHR11141:SF3,hmmpanther:PTHR11141,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000338844	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000336714	Transcript	1	.	ENSG00000101310	10702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.22)	.	SC23B_HUMAN	SEC23B	HGNC	Q5QPE2_HUMAN,B4DS04_HUMAN	.	UPI0000135455	SNV	SEC23B,missense_variant,p.Arg171Ser,ENST00000377475,;SEC23B,missense_variant,p.Arg171Ser,ENST00000377465,;SEC23B,missense_variant,p.Arg171Ser,ENST00000336714,;SEC23B,missense_variant,p.Arg171Ser,ENST00000262544,;SEC23B,missense_variant,p.Arg171Ser,ENST00000450074,;	945	135	87	SUCCESS
PYGB	5834	.	GRCh37	20	25261588	25261588	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201813153	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	23	161	0	ENST00000216962.4:c.1243G>A	p.Val415Met	p.V415M	ENST00000216962	NM_002862.3	415	Gtg/Atg	0	.	A:0.0008	.	A:0	.	A	V/M	protein_coding	YES	CCDS13171.1	1243	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGTGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Gene3D:3.40.50.2000,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756	A:0	.	ENSP00000216962	A:0	11/20	.	.	.	.	.	.	.	.	rs201813153	11/20	PASS	ENST00000216962	Transcript	.	A:0.0002	ENSG00000100994	9723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	A:0	deleterious(0.01)	.	PYGB_HUMAN	PYGB	HGNC	Q8TDG6_HUMAN	.	UPI0000131A0A	SNV	PYGB,missense_variant,p.Val415Met,ENST00000216962,;	1353	161	160	SUCCESS
CPNE1	8904	.	GRCh37	20	34220601	34220601	+	synonymous_variant	Silent	SNP	C	C	A	rs775467873	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	162	0	ENST00000352393.4:c.147G>T	p.Arg49=	p.R49=	ENST00000352393		49	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46595.1	162	MUTECT|MUSE|VARSCANS	.	CGCACCCGTTC	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10857:SF2,hmmpanther:PTHR10857	.	.	ENSP00000317257	.	3/16	.	.	.	.	.	.	.	.	rs775467873	3/16	PASS	ENST00000317677	Transcript	.	.	ENSG00000214078	2314	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CPNE1	HGNC	Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN,B0QZ18_HUMAN	.	UPI0000D4B36B	SNV	CPNE1,synonymous_variant,p.%3D,ENST00000317677,;CPNE1,synonymous_variant,p.%3D,ENST00000440240,;CPNE1,synonymous_variant,p.%3D,ENST00000397442,;CPNE1,synonymous_variant,p.%3D,ENST00000412056,;CPNE1,synonymous_variant,p.%3D,ENST00000317619,;CPNE1,synonymous_variant,p.%3D,ENST00000416778,;CPNE1,synonymous_variant,p.%3D,ENST00000430570,;CPNE1,synonymous_variant,p.%3D,ENST00000352393,;CPNE1,synonymous_variant,p.%3D,ENST00000414711,;CPNE1,synonymous_variant,p.%3D,ENST00000435747,;CPNE1,synonymous_variant,p.%3D,ENST00000458038,;CPNE1,synonymous_variant,p.%3D,ENST00000397443,;CPNE1,synonymous_variant,p.%3D,ENST00000420363,;CPNE1,synonymous_variant,p.%3D,ENST00000434795,;CPNE1,synonymous_variant,p.%3D,ENST00000439806,;CPNE1,synonymous_variant,p.%3D,ENST00000397445,;CPNE1,synonymous_variant,p.%3D,ENST00000437340,;CPNE1,synonymous_variant,p.%3D,ENST00000414664,;CPNE1,synonymous_variant,p.%3D,ENST00000397446,;CPNE1,synonymous_variant,p.%3D,ENST00000437100,;CPNE1,upstream_gene_variant,,ENST00000415920,;CPNE1,synonymous_variant,p.%3D,ENST00000439669,;CPNE1,synonymous_variant,p.%3D,ENST00000401607,;RP1-309K20.6,3_prime_UTR_variant,,ENST00000541176,;RP1-309K20.6,3_prime_UTR_variant,,ENST00000454607,;RP1-309K20.6,3_prime_UTR_variant,,ENST00000441563,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,upstream_gene_variant,,ENST00000486021,;CPNE1,upstream_gene_variant,,ENST00000483495,;	297	162	104	SUCCESS
ATP9A	10079	.	GRCh37	20	50287714	50287714	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756587295	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	109	0	ENST00000338821.5:c.1120C>T	p.Arg374Cys	p.R374C	ENST00000338821	NM_006045.1	374	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS33489.1	1120	MUTECT|MUSE	.	GGAGCGAACCA	NONE	byFrequency	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473	.	.	ENSP00000342481	.	12/28	.	.	.	.	.	.	.	.	rs756587295,COSM3547752	12/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,1	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Arg374Cys,ENST00000338821,;ATP9A,missense_variant,p.Arg253Cys,ENST00000402822,;ATP9A,missense_variant,p.Arg238Cys,ENST00000311637,;	1385	109	88	SUCCESS
PHACTR3	116154	.	GRCh37	20	58322830	58322830	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	157	0	ENST00000371015.1:c.298G>T	p.Ala100Ser	p.A100S	ENST00000371015	NM_080672.4	100	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS13480.1	298	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCCGGC	NONE	.	.	SMART_domains:SM00707,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7,PROSITE_profiles:PS51073	.	.	ENSP00000360054	.	3/13	.	.	.	.	.	.	.	.	COSM3841396	3/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.033)	.	tolerated(1)	1	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Ala59Ser,ENST00000541461,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000395636,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000395639,;PHACTR3,missense_variant,p.Ala97Ser,ENST00000359926,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000355648,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000361300,;PHACTR3,missense_variant,p.Ala100Ser,ENST00000371015,;PHACTR3,downstream_gene_variant,,ENST00000434923,;	765	157	85	SUCCESS
CHRNA4	1137	.	GRCh37	20	61978125	61978125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	19	114	0	ENST00000370263.4:c.1849C>T	p.Leu617Phe	p.L617F	ENST00000370263	NM_000744.6	617	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS13517.1	1849	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGGCCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000359285	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,missense_variant,p.Leu617Phe,ENST00000370263,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;	2071	114	113	SUCCESS
USP16	10600	.	GRCh37	21	30419571	30419571	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748205755	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	90	1	ENST00000334352.4:c.1940G>T	p.Arg647Leu	p.R647L	ENST00000334352	NM_001032410.1	647	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS13583.1	1940	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGAGATG	NONE	byCluster	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF420,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000334808	.	15/19	.	.	.	.	.	.	.	.	rs748205755,COSM4101017,COSM4101018	15/19	PASS	ENST00000334352	Transcript	.	.	ENSG00000156256	12614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.664)	.	deleterious(0.04)	0,1,1	UBP16_HUMAN	USP16	HGNC	H9KVB6_HUMAN	.	UPI00001379FA	SNV	USP16,missense_variant,p.Arg276Leu,ENST00000535828,;USP16,missense_variant,p.Arg647Leu,ENST00000334352,;USP16,missense_variant,p.Arg647Leu,ENST00000399976,;USP16,missense_variant,p.Arg646Leu,ENST00000399975,;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;USP16,upstream_gene_variant,,ENST00000485067,;	2171	91	62	SUCCESS
RSPH1	89765	.	GRCh37	21	43896039	43896039	+	synonymous_variant	Silent	SNP	G	G	A	rs781222867	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	104	0	ENST00000291536.3:c.846C>T	p.Asp282=	p.D282=	ENST00000291536	NM_080860.2	282	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS13688.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTCATA	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF130	.	.	ENSP00000291536	.	8/9	.	.	.	.	.	.	.	.	rs781222867	8/9	PASS	ENST00000291536	Transcript	.	.	ENSG00000160188	12371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSPH1_HUMAN	RSPH1	HGNC	.	.	UPI000004FA34	SNV	RSPH1,synonymous_variant,p.%3D,ENST00000398352,;RSPH1,synonymous_variant,p.%3D,ENST00000291536,;RSPH1,non_coding_transcript_exon_variant,,ENST00000493019,;	1014	104	91	SUCCESS
THAP7	80764	.	GRCh37	22	21354333	21354333	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756191065	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	21	85	0	ENST00000215742.4:c.766C>T	p.Arg256Cys	p.R256C	ENST00000215742	NM_030573.2	256	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13787.1	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCTGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23080:SF14,hmmpanther:PTHR23080	.	.	ENSP00000215742	.	4/4	.	.	.	.	.	.	.	.	rs756191065	4/4	PASS	ENST00000215742	Transcript	.	.	ENSG00000184436	23190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	THAP7_HUMAN	THAP7	HGNC	.	.	UPI00001AE5D8	SNV	THAP7,missense_variant,p.Arg256Cys,ENST00000399133,;THAP7,missense_variant,p.Arg256Cys,ENST00000215742,;AC002472.1,downstream_gene_variant,,ENST00000547793,;LZTR1,downstream_gene_variant,,ENST00000215739,;LZTR1,downstream_gene_variant,,ENST00000415817,;LZTR1,downstream_gene_variant,,ENST00000389355,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;LZTR1,downstream_gene_variant,,ENST00000479606,;THAP7,non_coding_transcript_exon_variant,,ENST00000498406,;THAP7,non_coding_transcript_exon_variant,,ENST00000476667,;THAP7,non_coding_transcript_exon_variant,,ENST00000471073,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000498649,;THAP7,downstream_gene_variant,,ENST00000488975,;THAP7,downstream_gene_variant,,ENST00000471723,;LZTR1,downstream_gene_variant,,ENST00000491432,;LZTR1,downstream_gene_variant,,ENST00000463909,;LZTR1,downstream_gene_variant,,ENST00000439171,;LZTR1,downstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000415354,;TUBA3FP,downstream_gene_variant,,ENST00000442739,;	941	85	110	SUCCESS
TTC28	23331	.	GRCh37	22	28494971	28494971	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766762462	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	190	21	177	0	ENST00000397906.2:c.3479A>G	p.Tyr1160Cys	p.Y1160C	ENST00000397906	NM_001145418.1	1160	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46678.1	3479	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGTAGTCC	NONE	.	.	hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106	.	.	ENSP00000381003	.	10/23	.	.	.	.	.	.	.	.	rs766762462	10/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.076)	.	tolerated(0.05)	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	SNV	TTC28,missense_variant,p.Tyr1160Cys,ENST00000397906,;TTC28,upstream_gene_variant,,ENST00000442232,;	3621	177	211	SUCCESS
H1F0	0	.	GRCh37	22	38201683	38201684	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	102	10	154	0	ENST00000340857.2:c.133dup	p.Ser45PhefsTer18	p.S45Ffs*18	ENST00000340857	NM_005318.3	44	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13956.1	132-133	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGCTCCTC	NONE	.	.	Prints_domain:PR00624,Superfamily_domains:SSF46785,SMART_domains:SM00526,Pfam_domain:PF00538,Gene3D:1.10.10.10,hmmpanther:PTHR11467:SF10,hmmpanther:PTHR11467,PROSITE_profiles:PS51504	.	.	ENSP00000344504	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340857	Transcript	.	.	ENSG00000189060	4714	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H10_HUMAN	H1F0	HGNC	.	.	UPI0000161F7B	insertion	H1F0,frameshift_variant,p.Ser45PhefsTer18,ENST00000340857,;GCAT,upstream_gene_variant,,ENST00000451984,;GCAT,upstream_gene_variant,,ENST00000445195,;GCAT,upstream_gene_variant,,ENST00000248924,;GCAT,upstream_gene_variant,,ENST00000323205,;GCAT,upstream_gene_variant,,ENST00000415371,;GCAT,upstream_gene_variant,,ENST00000426858,;GCAT,upstream_gene_variant,,ENST00000478203,;	570-571	154	112	SUCCESS
MPPED1	758	.	GRCh37	22	43870736	43870736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	28	200	1	ENST00000417669.2:c.527T>A	p.Leu176Gln	p.L176Q	ENST00000417669		176	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46723.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTGAAGC	NONE	.	.	hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,Superfamily_domains:SSF56300	.	.	ENSP00000388137	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000417669	Transcript	.	.	ENSG00000186732	1306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	tolerated(0.08)	.	MPPD1_HUMAN	MPPED1	HGNC	Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN	.	UPI000006DF41	SNV	MPPED1,missense_variant,p.Leu18Gln,ENST00000439548,;MPPED1,missense_variant,p.Leu176Gln,ENST00000542779,;MPPED1,missense_variant,p.Leu176Gln,ENST00000443721,;MPPED1,missense_variant,p.Leu209Gln,ENST00000538182,;MPPED1,missense_variant,p.Leu176Gln,ENST00000417669,;MPPED1,missense_variant,p.Leu70Gln,ENST00000414469,;	971	201	158	SUCCESS
GRHL1	29841	.	GRCh37	2	10095217	10095217	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1198161783	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	114	0	ENST00000324907.9:c.194A>G	p.Tyr65Cys	p.Y65C	ENST00000324907	NM_198182.2	65	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33144.2	194	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTATGACT	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF16	.	.	ENSP00000324693	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000324907	Transcript	.	.	ENSG00000134317	17923	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	GRHL1_HUMAN	GRHL1	HGNC	F8WFB0_HUMAN,C9JYY8_HUMAN	.	UPI00001E0586	SNV	GRHL1,missense_variant,p.Tyr65Cys,ENST00000405379,;GRHL1,missense_variant,p.Tyr65Cys,ENST00000324907,;GRHL1,5_prime_UTR_variant,,ENST00000324883,;GRHL1,missense_variant,p.Tyr65Cys,ENST00000472167,;GRHL1,missense_variant,p.Tyr65Cys,ENST00000439493,;GRHL1,missense_variant,p.Tyr68Cys,ENST00000464418,;GRHL1,non_coding_transcript_exon_variant,,ENST00000497403,;	330	114	94	SUCCESS
RGPD3	653489	.	GRCh37	2	107041399	107041399	+	synonymous_variant	Silent	SNP	G	G	A	rs745865184	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	86	1	ENST00000409886.3:c.3024C>T	p.Tyr1008=	p.Y1008=	ENST00000409886	NM_001144013.1	1008	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS46379.1	3024	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGTATTG	NONE	byFrequency	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386588	.	20/23	.	.	.	.	.	.	.	.	rs745865184	20/23	PASS	ENST00000409886	Transcript	.	.	ENSG00000153165	32416	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGPD3_HUMAN	RGPD3	HGNC	I1Z9D1_HUMAN	.	UPI00006C049F	SNV	RGPD3,synonymous_variant,p.%3D,ENST00000409886,;RGPD3,synonymous_variant,p.%3D,ENST00000304514,;	3112	87	73	SUCCESS
GLI2	2736	.	GRCh37	2	121554929	121554929	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764422727	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	65	0	ENST00000361492.4:c.33G>T	p.Glu11Asp	p.E11D	ENST00000361492	NM_005270.4	11	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS33283.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGAAGCA	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	2/14	.	.	.	.	.	.	.	.	rs764422727,COSM161276	2/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.007)	.	tolerated_low_confidence(0.22)	0,1	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Glu11Asp,ENST00000452319,;GLI2,missense_variant,p.Glu11Asp,ENST00000418323,;GLI2,missense_variant,p.Glu3Asp,ENST00000360874,;GLI2,missense_variant,p.Glu11Asp,ENST00000361492,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000482119,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,missense_variant,p.Glu11Asp,ENST00000438299,;GLI2,missense_variant,p.Glu11Asp,ENST00000341310,;GLI2,missense_variant,p.Glu11Asp,ENST00000452692,;GLI2,missense_variant,p.Glu3Asp,ENST00000433812,;GLI2,missense_variant,p.Glu11Asp,ENST00000437950,;GLI2,missense_variant,p.Glu11Asp,ENST00000445186,;GLI2,non_coding_transcript_exon_variant,,ENST00000472722,;	93	65	62	SUCCESS
BAZ2B	29994	.	GRCh37	2	160242941	160242941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	84	0	ENST00000392783.2:c.3394A>T	p.Met1132Leu	p.M1132L	ENST00000392783	NM_013450.2	1132	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS2209.2	3394	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCATGCTGT	NONE	.	.	SMART_domains:SM00571,Pfam_domain:PF02791,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,PROSITE_profiles:PS50827	.	.	ENSP00000376534	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.681)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Met193Leu,ENST00000294905,;BAZ2B,missense_variant,p.Met1032Leu,ENST00000343439,;BAZ2B,missense_variant,p.Met1096Leu,ENST00000392782,;BAZ2B,missense_variant,p.Met1098Leu,ENST00000355831,;BAZ2B,missense_variant,p.Met1132Leu,ENST00000392783,;AC008277.1,non_coding_transcript_exon_variant,,ENST00000420020,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000551504,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000485917,;	3890	84	53	SUCCESS
HOXD9	3235	.	GRCh37	2	176988265	176988265	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	80	0	ENST00000249499.6:c.769G>C	p.Glu257Gln	p.E257Q	ENST00000249499	NM_014213.3	257	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS2267.2	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGAGGAG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF113,PIRSF_domain:PIRSF037109	.	.	ENSP00000249499	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000249499	Transcript	.	.	ENSG00000128709	5140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	deleterious(0.02)	.	HXD9_HUMAN	HOXD9	HGNC	.	.	UPI000004A10E	SNV	HOXD9,missense_variant,p.Glu257Gln,ENST00000249499,;HOXD10,downstream_gene_variant,,ENST00000249501,;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000549469,;HOXD10,downstream_gene_variant,,ENST00000490088,;	1178	80	64	SUCCESS
FSIP2	401024	.	GRCh37	2	186673299	186673299	+	synonymous_variant	Silent	SNP	C	C	T	rs751674952	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	115	0	ENST00000424728.1:c.19266C>T	p.Val6422=	p.V6422=	ENST00000424728		6422	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54426.1	19533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCGATTC	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	rs751674952	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,synonymous_variant,p.%3D,ENST00000343098,;FSIP2,synonymous_variant,p.%3D,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	19533	115	90	SUCCESS
ITGAV	3685	.	GRCh37	2	187465066	187465066	+	intron_variant	Intron	SNP	T	T	C	rs1474653204	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	59	0	ENST00000261023.3:c.186-1682T>C		p.*62*	ENST00000261023	NM_002210.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2292.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTCCTAG	NONE	.	.	.	.	.	ENSP00000261023	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261023	Transcript	.	.	ENSG00000138448	6150	.	.	MODIFIER	1/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITAV_HUMAN	ITGAV	HGNC	L7RXH0_HUMAN	.	UPI000013D12E	SNV	ITGAV,missense_variant,p.Leu2Pro,ENST00000433736,;ITGAV,intron_variant,,ENST00000374907,;ITGAV,intron_variant,,ENST00000261023,;	.	59	41	SUCCESS
COL4A4	1286	.	GRCh37	2	227906897	227906897	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	50	0	ENST00000396625.3:c.3472G>T	p.Asp1158Tyr	p.D1158Y	ENST00000396625	NM_000092.4	1158	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42828.1	3472	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCCCCCT	NONE	.	.	hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000379866	.	37/48	.	.	.	.	.	.	.	.	COSM3047036	37/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	.	1	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Asp1158Tyr,ENST00000329662,;COL4A4,missense_variant,p.Asp1158Tyr,ENST00000396625,;	3680	50	37	SUCCESS
DQX1	165545	.	GRCh37	2	74745708	74745708	+	synonymous_variant	Silent	SNP	T	T	A	rs779985546	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	23	135	0	ENST00000393951.2:c.2019A>T	p.Pro673=	p.P673=	ENST00000393951		673	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1949.2	2019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATGGAGG	NONE	.	.	Pfam_domain:PF07717,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934	.	.	ENSP00000384621	.	12/12	.	.	.	.	.	.	.	.	rs779985546	12/12	PASS	ENST00000404568	Transcript	.	.	ENSG00000144045	20410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DQX1_HUMAN	DQX1	HGNC	C9J0W1_HUMAN	.	UPI0000208758	SNV	DQX1,synonymous_variant,p.%3D,ENST00000404568,;DQX1,synonymous_variant,p.%3D,ENST00000393951,;TLX2,downstream_gene_variant,,ENST00000233638,;DQX1,downstream_gene_variant,,ENST00000495597,;TLX2,downstream_gene_variant,,ENST00000497238,;DQX1,3_prime_UTR_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;DQX1,downstream_gene_variant,,ENST00000473508,;	2239	135	131	SUCCESS
IGKV1D-43	28891	.	GRCh37	2	90249250	90249250	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	123	0	ENST00000468879.1:c.206T>C	p.Phe69Ser	p.F69S	ENST00000468879		69	tTc/tCc	0	.	.	.	.	.	C	F/S	IG_V_gene	YES	.	206	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCATCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000417961	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000468879	Transcript	.	.	ENSG00000242580	5758	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.089)	.	deleterious(0)	.	.	IGKV1D-43	HGNC	.	.	UPI0000116191	SNV	IGKV1D-43,missense_variant,p.Phe69Ser,ENST00000468879,;	387	123	99	SUCCESS
LMAN2L	81562	.	GRCh37	2	97405772	97405772	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	21	0	ENST00000264963.4:c.6G>A	p.Ala2=	p.A2=	ENST00000264963	NM_030805.3	2	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46365.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCCGCCAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF20	.	.	ENSP00000366280	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000377079	Transcript	.	.	ENSG00000114988	19263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMA2L_HUMAN	LMAN2L	HGNC	B4DI83_HUMAN	.	UPI000044099B	SNV	LMAN2L,synonymous_variant,p.%3D,ENST00000377079,;LMAN2L,synonymous_variant,p.%3D,ENST00000264963,;LMAN2L,5_prime_UTR_variant,,ENST00000534882,;LMAN2L,5_prime_UTR_variant,,ENST00000426463,;LMAN2L,5_prime_UTR_variant,,ENST00000537039,;LMAN2L,synonymous_variant,p.%3D,ENST00000434524,;LMAN2L,synonymous_variant,p.%3D,ENST00000434865,;LMAN2L,synonymous_variant,p.%3D,ENST00000440610,;LMAN2L,synonymous_variant,p.%3D,ENST00000446780,;LMAN2L,synonymous_variant,p.%3D,ENST00000449221,;	30	21	32	SUCCESS
FBLN2	2199	.	GRCh37	3	13612210	13612210	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	69	0	ENST00000295760.7:c.355C>T	p.Pro119Ser	p.P119S	ENST00000295760	NM_001998.2	119	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46761.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGCCCAAC	NONE	.	.	.	.	.	ENSP00000384169	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.03)	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	SNV	FBLN2,missense_variant,p.Pro119Ser,ENST00000295760,;FBLN2,missense_variant,p.Pro119Ser,ENST00000492059,;FBLN2,missense_variant,p.Pro119Ser,ENST00000404922,;FBLN2,missense_variant,p.Pro119Ser,ENST00000465610,;FBLN2,missense_variant,p.Pro145Ser,ENST00000535798,;	474	69	98	SUCCESS
WDR49	151790	.	GRCh37	3	167272493	167272493	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	38	0	ENST00000308378.3:c.745del	p.Ile249TyrfsTer80	p.I249Yfs*80	ENST00000308378	NM_178824.3	249	Ata/ta	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS3201.1	745	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGTATTTTCT	NONE	.	.	Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,Low_complexity_(Seg):seg	.	.	ENSP00000311343	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	deletion	WDR49,frameshift_variant,p.Ile314TyrfsTer17,ENST00000472600,;WDR49,frameshift_variant,p.Ile302TyrfsTer17,ENST00000453925,;WDR49,frameshift_variant,p.Ile74TyrfsTer80,ENST00000476376,;WDR49,frameshift_variant,p.Ile249TyrfsTer80,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;WDR49,downstream_gene_variant,,ENST00000466760,;WDR49,intron_variant,,ENST00000460448,;	1051	38	29	SUCCESS
ITIH4	3700	.	GRCh37	3	52864633	52864633	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	132	1	ENST00000266041.4:c.26C>T	p.Thr9Ile	p.T9I	ENST00000266041	NM_002218.4	9	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2865.1	26	RADIA|MUTECT|MUSE	.	TGCAGGTACGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000266041	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.1)	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,missense_variant,p.Thr9Ile,ENST00000346281,;ITIH4,missense_variant,p.Thr9Ile,ENST00000266041,;ITIH4,missense_variant,p.Thr9Ile,ENST00000485816,;ITIH4,missense_variant,p.Thr9Ile,ENST00000406595,;ITIH4,5_prime_UTR_variant,,ENST00000434759,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000514466,;MUSTN1,downstream_gene_variant,,ENST00000486659,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000504329,;ITIH4,upstream_gene_variant,,ENST00000441637,;MUSTN1,downstream_gene_variant,,ENST00000446157,;RP5-966M1.6,non_coding_transcript_exon_variant,,ENST00000513520,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,non_coding_transcript_exon_variant,,ENST00000473904,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000495552,;	123	133	120	SUCCESS
C3orf67	0	.	GRCh37	3	58849427	58849427	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1576004590	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	89	0	ENST00000295966.7:c.1075C>T	p.Pro359Ser	p.P359S	ENST00000295966	NM_198463.2	359	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33776.1	1075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGGTCTTG	BUFFER|p.R360Q|c.1079G>A|3	.	.	hmmpanther:PTHR12458:SF7,hmmpanther:PTHR12458	.	.	ENSP00000295966	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000295966	Transcript	.	.	ENSG00000163689	24763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CC067_HUMAN	C3orf67	HGNC	.	.	UPI00001C098C	SNV	C3orf67,missense_variant,p.Pro266Ser,ENST00000472469,;C3orf67,missense_variant,p.Pro359Ser,ENST00000482387,;C3orf67,missense_variant,p.Pro359Ser,ENST00000295966,;RP11-147N17.1,intron_variant,,ENST00000493123,;RP11-147N17.1,intron_variant,,ENST00000463703,;RP11-147N17.1,intron_variant,,ENST00000492031,;RP11-147N17.1,intron_variant,,ENST00000482372,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;	1579	89	71	SUCCESS
OR5H14	403273	.	GRCh37	3	97868812	97868812	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	57	0	ENST00000437310.1:c.583A>T	p.Asn195Tyr	p.N195Y	ENST00000437310	NM_001005514.1	195	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS33798.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTAACTTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.746)	.	deleterious(0)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Asn195Tyr,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	643	57	48	SUCCESS
TRPC3	7222	.	GRCh37	4	122853884	122853884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	25	143	0	ENST00000379645.3:c.529G>A	p.Asp177Asn	p.D177N	ENST00000379645	NM_001130698.1	177	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47130.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTCGCCAA	BUFFER|p.R101C|c.301C>T|5	.	.	hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,Gene3D:1.25.40.20,Pfam_domain:PF12796,TIGRFAM_domain:TIGR00870,Superfamily_domains:SSF48403	.	.	ENSP00000368966	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000379645	Transcript	.	.	ENSG00000138741	12335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated(0.16)	.	TRPC3_HUMAN	TRPC3	HGNC	Q4W5P7_HUMAN,D6R902_HUMAN	.	UPI00004C6F61	SNV	TRPC3,missense_variant,p.Asp104Asn,ENST00000264811,;TRPC3,missense_variant,p.Asp104Asn,ENST00000513531,;TRPC3,missense_variant,p.Asp177Asn,ENST00000379645,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,missense_variant,p.Asp104Asn,ENST00000506449,;	603	143	124	SUCCESS
FAM160A1	0	.	GRCh37	4	152507926	152507926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	90	0	ENST00000435205.1:c.866T>C	p.Leu289Pro	p.L289P	ENST00000435205	NM_001109977.1	289	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47146.1	866	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTGGAGT	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705,Pfam_domain:PF10257	.	.	ENSP00000413196	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Leu289Pro,ENST00000435205,;FAM160A1,missense_variant,p.Leu289Pro,ENST00000505231,;	1441	90	70	SUCCESS
KLHL2	11275	.	GRCh37	4	166149976	166149976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	22	320	0	ENST00000226725.6:c.170A>T	p.Asp57Val	p.D57V	ENST00000226725	NM_007246.3	57	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS54815.1	182	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGATGTCA	NONE	.	.	Superfamily_domains:SSF54695,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412,PROSITE_profiles:PS50097	.	.	ENSP00000424198	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000514860	Transcript	.	.	ENSG00000109466	6353	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,start_lost,p.Met1?,ENST00000421009,;KLHL2,missense_variant,p.Asp61Val,ENST00000514860,;KLHL2,missense_variant,p.Asp57Val,ENST00000226725,;KLHL2,missense_variant,p.Asp19Val,ENST00000509704,;KLHL2,missense_variant,p.Asp97Val,ENST00000511305,;KLHL2,intron_variant,,ENST00000538127,;KLHL2,intron_variant,,ENST00000506824,;	432	320	230	SUCCESS
PDLIM3	27295	.	GRCh37	4	186446243	186446247	+	frameshift_variant	Frame_Shift_Del	DEL	GACTC	GACTC	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	GACTC	GACTC	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	101	0	ENST00000284770.5:c.172_176del	p.Glu58HisfsTer5	p.E58Hfs*5	ENST00000284770	NM_014476.5	58	GAGTCc/c	0	.	.	.	.	.	-	ES/X	protein_coding	YES	CCDS3844.1	172-176	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCATGGACTCTGTCC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24214:SF7,hmmpanther:PTHR24214,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000284770	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000284770	Transcript	.	.	ENSG00000154553	20767	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDLI3_HUMAN	PDLIM3	HGNC	.	.	UPI000013DDB6	deletion	PDLIM3,frameshift_variant,p.Glu58HisfsTer5,ENST00000284770,;PDLIM3,frameshift_variant,p.Glu58HisfsTer5,ENST00000284771,;PDLIM3,frameshift_variant,p.Glu58HisfsTer5,ENST00000284767,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000512380,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000515261,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000504355,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000504011,;PDLIM3,intron_variant,,ENST00000505886,;PDLIM3,intron_variant,,ENST00000512293,;	246-250	101	70	SUCCESS
ZFP42	132625	.	GRCh37	4	188924467	188924467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	21	0	ENST00000326866.4:c.506C>A	p.Ala169Glu	p.A169E	ENST00000326866	NM_174900.3	169	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS3849.1	506	RADIA|MUTECT|MUSE	.	GCTCGCAGAAT	NONE	.	.	hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.441)	.	deleterious(0)	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,missense_variant,p.Ala169Glu,ENST00000326866,;ZFP42,missense_variant,p.Ala169Glu,ENST00000509524,;	914	21	18	SUCCESS
ZFP42	132625	.	GRCh37	4	188924478	188924478	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs201470874	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	22	0	ENST00000326866.4:c.517A>T	p.Arg173Ter	p.R173*	ENST00000326866	NM_174900.3	173	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS3849.1	517	RADIA|MUTECT|MUSE	.	TTGCTAGAAAG	NONE	byCluster	.	hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	rs201470874	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,stop_gained,p.Arg173Ter,ENST00000326866,;ZFP42,stop_gained,p.Arg173Ter,ENST00000509524,;	925	22	17	SUCCESS
GUF1	60558	.	GRCh37	4	44682735	44682735	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	123	1	ENST00000281543.5:c.302A>G	p.Asn101Ser	p.N101S	ENST00000281543	NM_021927.2	101	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3468.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAATAAGC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00009,TIGRFAM_domain:TIGR00231,TIGRFAM_domain:TIGR01393,Gene3D:3.40.50.300,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF97,HAMAP:MF_00071	.	.	ENSP00000281543	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000281543	Transcript	.	.	ENSG00000151806	25799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.2)	.	GUF1_HUMAN	GUF1	HGNC	.	.	UPI000006FFEC	SNV	GUF1,missense_variant,p.Asn101Ser,ENST00000281543,;YIPF7,upstream_gene_variant,,ENST00000508947,;GNPDA2,downstream_gene_variant,,ENST00000609092,;GNPDA2,downstream_gene_variant,,ENST00000608855,;GUF1,non_coding_transcript_exon_variant,,ENST00000506793,;GUF1,missense_variant,p.Ile64Val,ENST00000513775,;	496	124	81	SUCCESS
AFAP1	60312	.	GRCh37	4	7787959	7787959	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	122	0	ENST00000358461.2:c.1492G>A	p.Ala498Thr	p.A498T	ENST00000358461	NM_198595.2	498	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47010.1	1492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGCCGTCC	NONE	.	.	hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8	.	.	ENSP00000410689	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000420658	Transcript	.	.	ENSG00000196526	24017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated(0.19)	.	AFAP1_HUMAN	AFAP1	HGNC	.	.	UPI000048041E	SNV	AFAP1,missense_variant,p.Ala498Thr,ENST00000382543,;AFAP1,missense_variant,p.Ala498Thr,ENST00000420658,;AFAP1,missense_variant,p.Ala498Thr,ENST00000360265,;AFAP1,missense_variant,p.Ala498Thr,ENST00000358461,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513842,;AFAP1,downstream_gene_variant,,ENST00000508415,;	1765	122	89	SUCCESS
PCDHA3	56145	.	GRCh37	5	140182464	140182464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	13	36	0	ENST00000522353.2:c.1682A>G	p.Asn561Ser	p.N561S	ENST00000522353	NM_018906.2	561	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS54915.1	1682	RADIA|MUTECT|MUSE|VARSCANS	.	CGACAACGCGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,missense_variant,p.Asn561Ser,ENST00000532566,;PCDHA3,missense_variant,p.Asn561Ser,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA4,upstream_gene_variant,,ENST00000530339,;PCDHA4,upstream_gene_variant,,ENST00000356878,;PCDHA4,upstream_gene_variant,,ENST00000512229,;	1682	36	120	SUCCESS
SPEF2	79925	.	GRCh37	5	35704679	35704679	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	55	0	ENST00000356031.3:c.2422G>A	p.Ala808Thr	p.A808T	ENST00000356031	NM_024867.3	808	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43309.1	2422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTGCTCAC	NONE	.	.	hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000348314	.	17/37	.	.	.	.	.	.	.	.	.	17/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.63)	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,missense_variant,p.Ala803Thr,ENST00000440995,;SPEF2,missense_variant,p.Ala314Thr,ENST00000504054,;SPEF2,missense_variant,p.Ala803Thr,ENST00000509059,;SPEF2,missense_variant,p.Ala808Thr,ENST00000356031,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,synonymous_variant,p.%3D,ENST00000508817,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;	2576	55	36	SUCCESS
FYN	2534	.	GRCh37	6	112035597	112035597	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	54	0	ENST00000368678.4:c.297T>C	p.Asp99=	p.D99=	ENST00000368678		99	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS5094.1	297	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCATCTTC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF44,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000346671	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000354650	Transcript	.	.	ENSG00000010810	4037	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FYN_HUMAN	FYN	HGNC	E5RK23_HUMAN,E5RJX7_HUMAN,E5RIX5_HUMAN,E5RI25_HUMAN,E5RHX7_HUMAN,E5RHF7_HUMAN,E5RH71_HUMAN,E5RGT0_HUMAN,E5RGM6_HUMAN,E5RFS5_HUMAN,E5RFM6_HUMAN,E5RFM4_HUMAN,E5RFM0_HUMAN	.	UPI0000141141	SNV	FYN,splice_donor_variant,,ENST00000229470,;FYN,synonymous_variant,p.%3D,ENST00000368667,;FYN,synonymous_variant,p.%3D,ENST00000229471,;FYN,synonymous_variant,p.%3D,ENST00000368682,;FYN,synonymous_variant,p.%3D,ENST00000518630,;FYN,synonymous_variant,p.%3D,ENST00000538466,;FYN,synonymous_variant,p.%3D,ENST00000462856,;FYN,synonymous_variant,p.%3D,ENST00000524310,;FYN,synonymous_variant,p.%3D,ENST00000354650,;FYN,synonymous_variant,p.%3D,ENST00000484067,;FYN,synonymous_variant,p.%3D,ENST00000523570,;FYN,synonymous_variant,p.%3D,ENST00000368678,;FYN,synonymous_variant,p.%3D,ENST00000523574,;FYN,synonymous_variant,p.%3D,ENST00000520518,;FYN,synonymous_variant,p.%3D,ENST00000517419,;FYN,synonymous_variant,p.%3D,ENST00000518295,;FYN,synonymous_variant,p.%3D,ENST00000523238,;FYN,synonymous_variant,p.%3D,ENST00000521062,;FYN,synonymous_variant,p.%3D,ENST00000356013,;FYN,downstream_gene_variant,,ENST00000462598,;FYN,non_coding_transcript_exon_variant,,ENST00000523322,;FYN,non_coding_transcript_exon_variant,,ENST00000496864,;	904	54	34	SUCCESS
TUBE1	51175	.	GRCh37	6	112408474	112408489	+	protein_altering_variant	In_Frame_Del	DEL	AGAAGCAGCAGCCGAT	AGAAGCAGCAGCCGAT	CGAA	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	AGAAGCAGCAGCCGAT	AGAAGCAGCAGCCGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	225	33	277	0	ENST00000368662.5:c.46_61delinsTTCG	p.Ile16_Trp21delinsPheGly	p.I16_W21delinsFG	ENST00000368662	NM_016262.4	16	ATCGGCTGCTGCTTCTgg/TTCGgg	0	.	.	.	.	.	CGAA	IGCCFW/FG	protein_coding	YES	CCDS5100.1	46-61	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCCCAGAAGCAGCAGCCGATCTGGT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF13,Pfam_domain:PF00091,Gene3D:3.40.50.1440,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000357651	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000368662	Transcript	.	.	ENSG00000074935	20775	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBE_HUMAN	TUBE1	HGNC	.	.	UPI0000136A4E	substitution	TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000368662,;FAM229B,upstream_gene_variant,,ENST00000604268,;FAM229B,upstream_gene_variant,,ENST00000368656,;TUBE1,upstream_gene_variant,,ENST00000441191,;TUBE1,upstream_gene_variant,,ENST00000604814,;TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000604743,;TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000604967,;TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000605457,;TUBE1,non_coding_transcript_exon_variant,,ENST00000368657,;TUBE1,non_coding_transcript_exon_variant,,ENST00000603722,;TUBE1,non_coding_transcript_exon_variant,,ENST00000603621,;	125-140	277	258	SUCCESS
LAMA4	3910	.	GRCh37	6	112435307	112435307	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782446664	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	49	0	ENST00000230538.7:c.5298G>C	p.Arg1766Ser	p.R1766S	ENST00000230538	NM_001105206.2	1766	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS43491.1	5298	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCCTGTG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF174,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000230538	.	38/39	.	.	.	.	.	.	.	.	rs782446664	38/39	PASS	ENST00000230538	Transcript	.	.	ENSG00000112769	6484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.192)	.	tolerated(0.07)	.	LAMA4_HUMAN	LAMA4	HGNC	E5RK79_HUMAN,E5RHF3_HUMAN,E5RFQ2_HUMAN,E5RFD7_HUMAN	.	UPI000013C937	SNV	LAMA4,missense_variant,p.Arg1766Ser,ENST00000230538,;LAMA4,missense_variant,p.Arg1759Ser,ENST00000424408,;LAMA4,missense_variant,p.Arg1759Ser,ENST00000522006,;LAMA4,missense_variant,p.Arg1759Ser,ENST00000389463,;	5696	49	47	SUCCESS
GABBR1	2550	.	GRCh37	6	29580368	29580368	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759815319	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	36	0	ENST00000377034.4:c.1590C>A	p.Ser530Arg	p.S530R	ENST00000377034	NM_001470.2	530	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS4663.1	1590	MUTECT|MUSE|VARSCANS	.	GAGCCGCTGGC	NONE	.	.	hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000366233	.	13/23	.	.	.	.	.	.	.	.	rs759815319	13/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.836)	.	deleterious(0.04)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Ser468Arg,ENST00000377016,;GABBR1,missense_variant,p.Ser530Arg,ENST00000376977,;GABBR1,missense_variant,p.Ser413Arg,ENST00000355973,;GABBR1,missense_variant,p.Ser413Arg,ENST00000377012,;GABBR1,missense_variant,p.Ser530Arg,ENST00000377034,;GABBR1,missense_variant,p.Ser530Arg,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000489839,;GABBR1,downstream_gene_variant,,ENST00000494634,;GABBR1,upstream_gene_variant,,ENST00000473774,;	1926	36	48	SUCCESS
EPHA1	2041	.	GRCh37	7	143096483	143096483	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	126	0	ENST00000275815.3:c.859A>T	p.Met287Leu	p.M287L	ENST00000275815	NM_005232.4	287	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS5884.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCATCCGGT	NONE	.	.	Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28	.	.	ENSP00000275815	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.08)	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,missense_variant,p.Met287Leu,ENST00000275815,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;EPHA1,upstream_gene_variant,,ENST00000494989,;	946	126	128	SUCCESS
OR2A2	442361	.	GRCh37	7	143807041	143807041	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs201869620	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	18	129	0	ENST00000408979.2:c.366T>A	p.Tyr122Ter	p.Y122*	ENST00000408979	NM_001005480.2	122	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS43671.1	366	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTATGTGGC	NONE	by1000G	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26453:SF82,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000386209	.	1/1	.	.	.	.	.	.	.	.	rs201869620	1/1	PASS	ENST00000408979	Transcript	.	.	ENSG00000221989	8230	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2A2_HUMAN	OR2A2	HGNC	.	.	UPI0000061E70	SNV	OR2A2,stop_gained,p.Tyr122Ter,ENST00000408979,;	435	129	142	SUCCESS
STK31	56164	.	GRCh37	7	23809272	23809272	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	40	0	ENST00000355870.3:c.1610C>T	p.Ser537Phe	p.S537F	ENST00000355870	NM_031414.4	537	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS5386.1	1610	MUTECT|MUSE	.	CCTATCTGTGG	NONE	.	.	hmmpanther:PTHR12302:SF0,hmmpanther:PTHR12302	.	.	ENSP00000348132	.	13/24	.	.	.	.	.	.	.	.	COSM3637544	13/24	PASS	ENST00000355870	Transcript	.	.	ENSG00000196335	11407	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.775)	.	deleterious(0.03)	1	STK31_HUMAN	STK31	HGNC	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN	.	UPI0000167B73	SNV	STK31,missense_variant,p.Ser514Phe,ENST00000428484,;STK31,missense_variant,p.Ser514Phe,ENST00000354639,;STK31,missense_variant,p.Ser537Phe,ENST00000355870,;STK31,missense_variant,p.Ser537Phe,ENST00000433467,;STK31,non_coding_transcript_exon_variant,,ENST00000478321,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;	1729	40	22	SUCCESS
MPP6	0	.	GRCh37	7	24705233	24705233	+	synonymous_variant	Silent	SNP	C	C	T	rs201576683	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	88	0	ENST00000222644.5:c.810C>T	p.Ser270=	p.S270=	ENST00000222644		270	agC/agT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS5388.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCGCTGG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF07653,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122,PROSITE_profiles:PS50002	T:0.002	.	ENSP00000222644	T:0	7/12	.	.	.	.	.	.	.	.	rs201576683,COSM312925	7/12	PASS	ENST00000222644	Transcript	.	T:0.0004	ENSG00000105926	18167	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,synonymous_variant,p.%3D,ENST00000430180,;MPP6,synonymous_variant,p.%3D,ENST00000396475,;MPP6,synonymous_variant,p.%3D,ENST00000409761,;MPP6,synonymous_variant,p.%3D,ENST00000222644,;MPP6,non_coding_transcript_exon_variant,,ENST00000472674,;MPP6,upstream_gene_variant,,ENST00000464384,;	1060	88	77	SUCCESS
HOXA3	3200	.	GRCh37	7	27148273	27148273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	37	0	ENST00000317201.2:c.593A>G	p.Tyr198Cys	p.Y198C	ENST00000317201	NM_153631.2	198	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5404.1	593	RADIA|VARSCANS	.	TCGTGTAGGCC	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137,PROSITE_profiles:PS50071	.	.	ENSP00000379640	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396352	Transcript	.	.	ENSG00000105997	5104	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	HXA3_HUMAN	HOXA3	HGNC	F2Z3A4_HUMAN,E5RIJ8_HUMAN,A4D182_HUMAN	.	UPI000012CF22	SNV	HOXA3,missense_variant,p.Tyr198Cys,ENST00000317201,;HOXA3,missense_variant,p.Tyr198Cys,ENST00000396352,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000521779,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;	793	37	52	SUCCESS
AMZ1	155185	.	GRCh37	7	2740124	2740124	+	synonymous_variant	Silent	SNP	G	G	A	rs1349523284	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	51	0	ENST00000312371.4:c.39G>A	p.Gly13=	p.G13=	ENST00000312371	NM_133463.1	13	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34589.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGGCCCCG	NONE	.	.	hmmpanther:PTHR32205:SF4,hmmpanther:PTHR32205	.	.	ENSP00000308149	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000312371	Transcript	.	.	ENSG00000174945	22231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMZ1_HUMAN	AMZ1	HGNC	B4DIY9_HUMAN,A4D202_HUMAN	.	UPI00001C1E77	SNV	AMZ1,synonymous_variant,p.%3D,ENST00000407112,;AMZ1,synonymous_variant,p.%3D,ENST00000312371,;AMZ1,upstream_gene_variant,,ENST00000489665,;AMZ1,upstream_gene_variant,,ENST00000485540,;AMZ1,upstream_gene_variant,,ENST00000480560,;	407	51	53	SUCCESS
CCDC129	0	.	GRCh37	7	31683502	31683502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	51	0	ENST00000451887.2:c.2596C>A	p.Gln866Lys	p.Q866K	ENST00000451887	NM_001257968.1	866	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS59050.1	2596	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACCAGGAA	NONE	.	.	Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.32)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Gln866Lys,ENST00000451887,;CCDC129,missense_variant,p.Gln748Lys,ENST00000409210,;CCDC129,missense_variant,p.Gln692Lys,ENST00000319386,;CCDC129,missense_variant,p.Gln840Lys,ENST00000407970,;	2608	51	70	SUCCESS
SDK1	221935	.	GRCh37	7	4285345	4285345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	15	142	0	ENST00000404826.2:c.6289T>C	p.Ser2097Pro	p.S2097P	ENST00000404826	NM_152744.3	2097	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS34590.1	6289	RADIA|MUTECT|MUSE|VARSCANS	.	ACTACTCAGAC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36	.	.	ENSP00000385899	.	44/45	.	.	.	.	.	.	.	.	.	44/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Ser2097Pro,ENST00000404826,;SDK1,missense_variant,p.Ser2077Pro,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000466611,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	6428	142	125	SUCCESS
AKAP9	10142	.	GRCh37	7	91671427	91671427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149244653	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	58	0	ENST00000356239.3:c.4985C>T	p.Ala1662Val	p.A1662V	ENST00000356239	NM_147185.2	1662	gCa/gTa	0	T:0.0007	T:0.0023	.	T:0	.	T	A/V	protein_coding	YES	CCDS5622.1	4985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_benign	GGAAGCACTAA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18932:SF10,hmmpanther:PTHR18932	T:0	T:0	ENSP00000348573	T:0	19/50	.	.	.	.	.	.	.	.	rs149244653	19/50	PASS	ENST00000356239	Transcript	.	T:0.0006	ENSG00000127914	379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.904)	T:0	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,missense_variant,p.Ala1662Val,ENST00000356239,;AKAP9,missense_variant,p.Ala1674Val,ENST00000359028,;AKAP9,missense_variant,p.Ala1674Val,ENST00000358100,;AKAP9,intron_variant,,ENST00000484815,;AKAP9,downstream_gene_variant,,ENST00000493453,;	5218	58	36	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813669	106813669	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	40	0	ENST00000407775.2:c.1359A>T	p.Arg453Ser	p.R453S	ENST00000407775	NM_012082.3	453	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47908.1	1359	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGACCAGA	NONE	.	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.07)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Arg321Ser,ENST00000517361,;ZFPM2,missense_variant,p.Arg184Ser,ENST00000378472,;ZFPM2,missense_variant,p.Arg321Ser,ENST00000520492,;ZFPM2,missense_variant,p.Arg453Ser,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1609	40	33	SUCCESS
BLK	640	.	GRCh37	8	11420535	11420535	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376140772	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	28	138	0	ENST00000259089.4:c.1228G>A	p.Gly410Arg	p.G410R	ENST00000259089	NM_001715.2	410	Ggg/Agg	0	A:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS5982.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCGGGGTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF39,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	A:0.0001	ENSP00000259089	.	12/13	.	.	.	.	.	.	.	.	rs376140772	12/13	PASS	ENST00000259089	Transcript	1	.	ENSG00000136573	1057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BLK_HUMAN	BLK	HGNC	E9PJX5_HUMAN	.	UPI000006EA28	SNV	BLK,missense_variant,p.Gly339Arg,ENST00000529894,;BLK,missense_variant,p.Gly410Arg,ENST00000259089,;RP11-148O21.2,upstream_gene_variant,,ENST00000533322,;BLK,non_coding_transcript_exon_variant,,ENST00000526097,;	1820	138	156	SUCCESS
ZFAT	57623	.	GRCh37	8	135613836	135613836	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201041569	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	30	149	1	ENST00000377838.3:c.2126G>T	p.Arg709Leu	p.R709L	ENST00000377838	NM_020863.3	709	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS47924.1	2126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACCGGTGC	NONE	byCluster	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0	.	T:0.0001	ENSP00000367069	.	6/16	.	.	.	.	.	.	.	.	rs201041569	6/16	PASS	ENST00000377838	Transcript	.	.	ENSG00000066827	19899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	deleterious(0.04)	.	ZFAT_HUMAN	ZFAT	HGNC	.	.	UPI0000210061	SNV	ZFAT,missense_variant,p.Arg697Leu,ENST00000429442,;ZFAT,missense_variant,p.Arg697Leu,ENST00000520214,;ZFAT,missense_variant,p.Arg709Leu,ENST00000377838,;ZFAT,missense_variant,p.Arg647Leu,ENST00000523399,;ZFAT,missense_variant,p.Arg697Leu,ENST00000520727,;ZFAT,missense_variant,p.Arg697Leu,ENST00000520356,;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,missense_variant,p.Arg709Leu,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;ZFAT,upstream_gene_variant,,ENST00000519827,;	2301	150	169	SUCCESS
MROH1	727957	.	GRCh37	8	145234383	145234383	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	54	225	0	ENST00000326134.5:c.194T>G	p.Val65Gly	p.V65G	ENST00000326134		65	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS47938.1	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGTCCTGA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000435565	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000528919	Transcript	.	.	ENSG00000179832	26958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.52)	.	deleterious(0)	.	MROH1_HUMAN	MROH1	HGNC	.	.	UPI0001AE6FA6	SNV	MROH1,missense_variant,p.Val65Gly,ENST00000534366,;MROH1,missense_variant,p.Val65Gly,ENST00000398656,;MROH1,missense_variant,p.Val65Gly,ENST00000423230,;MROH1,missense_variant,p.Val65Gly,ENST00000528919,;MROH1,missense_variant,p.Val65Gly,ENST00000326134,;MROH1,non_coding_transcript_exon_variant,,ENST00000532255,;MROH1,non_coding_transcript_exon_variant,,ENST00000525287,;MROH1,non_coding_transcript_exon_variant,,ENST00000527552,;MROH1,non_coding_transcript_exon_variant,,ENST00000534508,;	315	225	225	SUCCESS
SLC39A14	23516	.	GRCh37	8	22273745	22273745	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	21	124	0	ENST00000289952.5:c.1099A>G	p.Ile367Val	p.I367V	ENST00000289952	NM_001135153.1	367	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS6030.1	1099	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCATCAGC	NONE	.	.	hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF5,Pfam_domain:PF02535	.	.	ENSP00000352779	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000359741	Transcript	.	.	ENSG00000104635	20858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.18)	.	S39AE_HUMAN	SLC39A14	HGNC	E5RJ40_HUMAN,E5RJG5_HUMAN,E5RIP4_HUMAN,E5RGA7_HUMAN,E5RFZ8_HUMAN,E5RFF5_HUMAN	.	UPI0000457680	SNV	SLC39A14,missense_variant,p.Ile367Val,ENST00000289952,;SLC39A14,missense_variant,p.Ile190Val,ENST00000517370,;SLC39A14,missense_variant,p.Ile367Val,ENST00000381237,;SLC39A14,missense_variant,p.Ile367Val,ENST00000359741,;SLC39A14,missense_variant,p.Ile367Val,ENST00000240095,;SLC39A14,non_coding_transcript_exon_variant,,ENST00000518348,;	1274	124	133	SUCCESS
FNTA	2339	.	GRCh37	8	42911627	42911627	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	27	0	ENST00000302279.3:c.138C>T	p.Ala46=	p.A46=	ENST00000302279	NM_002027.2	46	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6140.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCGTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11129:SF1,hmmpanther:PTHR11129	.	.	ENSP00000303423	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000302279	Transcript	.	.	ENSG00000168522	3782	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNTA_HUMAN	FNTA	HGNC	E9PPM9_HUMAN,D3DSY9_HUMAN,B3KVN2_HUMAN	.	UPI000013176D	SNV	FNTA,synonymous_variant,p.%3D,ENST00000302279,;FNTA,synonymous_variant,p.%3D,ENST00000342116,;FNTA,synonymous_variant,p.%3D,ENST00000531266,;RP11-598P20.5,intron_variant,,ENST00000534420,;FNTA,upstream_gene_variant,,ENST00000533336,;FNTA,upstream_gene_variant,,ENST00000529687,;FNTA,upstream_gene_variant,,ENST00000525699,;FNTA,non_coding_transcript_exon_variant,,ENST00000524546,;FNTA,non_coding_transcript_exon_variant,,ENST00000527153,;FNTA,intron_variant,,ENST00000533559,;FNTA,synonymous_variant,p.%3D,ENST00000526755,;FNTA,synonymous_variant,p.%3D,ENST00000533383,;FNTA,synonymous_variant,p.%3D,ENST00000533998,;FNTA,non_coding_transcript_exon_variant,,ENST00000533368,;	332	27	42	SUCCESS
ZFHX4	79776	.	GRCh37	8	77767616	77767616	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	73	0	ENST00000521891.2:c.8459A>C	p.Asn2820Thr	p.N2820T	ENST00000521891	NM_024721.4	2820	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS47878.2	8459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAACACTG	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Asn2775Thr,ENST00000455469,;ZFHX4,missense_variant,p.Asn2794Thr,ENST00000518282,;ZFHX4,missense_variant,p.Asn2775Thr,ENST00000050961,;ZFHX4,missense_variant,p.Asn2820Thr,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	8907	73	40	SUCCESS
LRRC69	100130742	.	GRCh37	8	92114903	92114903	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	46	0	ENST00000448384.2:c.14T>C	p.Leu5Ser	p.L5S	ENST00000448384	NM_001129890.1	5	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	.	14	RADIA|MUSE|VARSCANS	.	GAGATTGTTAA	NONE	.	.	.	.	.	ENSP00000400803	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000448384	Transcript	.	.	ENSG00000214954	34303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.632)	.	deleterious(0)	.	LRC69_HUMAN	LRRC69	HGNC	E5RJ66_HUMAN	.	UPI00006C0DD3	SNV	LRRC69,missense_variant,p.Leu5Ser,ENST00000343709,;LRRC69,missense_variant,p.Leu5Ser,ENST00000448384,;LRRC69,missense_variant,p.Leu5Ser,ENST00000518304,;LRRC69,upstream_gene_variant,,ENST00000522144,;LRRC69,missense_variant,p.Leu5Ser,ENST00000520099,;	14	46	55	SUCCESS
GPR144	0	.	GRCh37	9	127232800	127232800	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	31	105	1	ENST00000334810.1:c.2586G>T	p.Leu862=	p.L862=	ENST00000334810	NM_001161808.1	862	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	.	2586	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGCTGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF58,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000335156	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	SNV	GPR144,synonymous_variant,p.%3D,ENST00000334810,;	2586	106	185	SUCCESS
SPTAN1	6709	.	GRCh37	9	131389786	131389786	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	112	0	ENST00000372731.4:c.6674+9C>T		p.*2225*	ENST00000372731	NM_003127.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48036.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCGCTG	NONE	.	.	.	.	.	ENSP00000361824	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODIFIER	50/56	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Pro2233Leu,ENST00000358161,;SPTAN1,intron_variant,,ENST00000372739,;SPTAN1,intron_variant,,ENST00000372731,;SPTAN1,downstream_gene_variant,,ENST00000491712,;	.	112	105	SUCCESS
COL4A6	1288	.	GRCh37	X	107681209	107681209	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	60	230	0	ENST00000372216.4:c.29T>A	p.Leu10Gln	p.L10Q	ENST00000372216	NM_001847.2	10	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14541.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164	.	.	ENSP00000361290	.	2/45	.	.	.	.	.	.	.	.	.	2/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,missense_variant,p.Leu10Gln,ENST00000372216,;COL4A6,missense_variant,p.Leu9Gln,ENST00000538570,;COL4A6,missense_variant,p.Leu9Gln,ENST00000334504,;COL4A6,missense_variant,p.Leu9Gln,ENST00000394872,;COL4A6,missense_variant,p.Leu9Gln,ENST00000545689,;COL4A5,upstream_gene_variant,,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000328300,;COL4A6,non_coding_transcript_exon_variant,,ENST00000461897,;COL4A6,non_coding_transcript_exon_variant,,ENST00000477085,;COL4A5,upstream_gene_variant,,ENST00000477429,;COL4A6,non_coding_transcript_exon_variant,,ENST00000468338,;COL4A5,upstream_gene_variant,,ENST00000470339,;	130	231	203	SUCCESS
MID1IP1	58526	.	GRCh37	X	38664328	38664328	+	synonymous_variant	Silent	SNP	G	G	C	rs777603388	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	354	10	318	1	ENST00000336949.6:c.129G>C	p.Leu43=	p.L43=	ENST00000336949	NM_021242.4	43	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS14249.1	129	MUTECT|MUSE	.	CCCCTGGCTGA	NONE	byFrequency	.	hmmpanther:PTHR14315,hmmpanther:PTHR14315:SF14,Pfam_domain:PF07084	.	.	ENSP00000338706	.	2/2	.	.	.	.	.	.	.	.	rs777603388	2/2	PASS	ENST00000336949	Transcript	.	.	ENSG00000165175	20715	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M1IP1_HUMAN	MID1IP1	HGNC	.	.	UPI0000035824	SNV	MID1IP1,synonymous_variant,p.%3D,ENST00000378474,;MID1IP1,synonymous_variant,p.%3D,ENST00000457894,;MID1IP1,synonymous_variant,p.%3D,ENST00000336949,;MID1IP1-AS1,upstream_gene_variant,,ENST00000436893,;	1074	319	364	SUCCESS
HUWE1	10075	.	GRCh37	X	53655712	53655712	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	83	1	ENST00000262854.6:c.1105G>A	p.Ala369Thr	p.A369T	ENST00000262854	NM_031407.5	369	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS35301.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCCTGGA	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Pfam_domain:PF06012,Superfamily_domains:SSF48371	.	.	ENSP00000340648	.	13/83	.	.	.	.	.	.	.	.	.	13/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Ala369Thr,ENST00000218328,;HUWE1,missense_variant,p.Ala369Thr,ENST00000342160,;HUWE1,missense_variant,p.Ala369Thr,ENST00000262854,;HUWE1,upstream_gene_variant,,ENST00000424562,;HUWE1,upstream_gene_variant,,ENST00000489876,;HUWE1,downstream_gene_variant,,ENST00000471676,;	1563	84	85	SUCCESS
CISD1	55847	.	GRCh37	10	60037077	60037077	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	23	222	0	ENST00000333926.5:c.232A>T	p.Lys78Ter	p.K78*	ENST00000333926	NM_018464.4	78	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS7251.1	232	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAAAAAG	NONE	.	.	hmmpanther:PTHR13680:SF2,hmmpanther:PTHR13680,Pfam_domain:PF09360,SMART_domains:SM00704	.	.	ENSP00000363041	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000333926	Transcript	.	.	ENSG00000122873	30880	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CISD1_HUMAN	CISD1	HGNC	.	.	UPI000012EDFF	SNV	CISD1,stop_gained,p.Lys78Ter,ENST00000333926,;CISD1,non_coding_transcript_exon_variant,,ENST00000464703,;CISD1,non_coding_transcript_exon_variant,,ENST00000488388,;CISD1,non_coding_transcript_exon_variant,,ENST00000489785,;	448	222	158	SUCCESS
TNKS2	80351	.	GRCh37	10	93558647	93558647	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	76	0	ENST00000371627.4:c.199+1G>T		p.X67_splice	ENST00000371627	NM_025235.3	67		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7417.1	.	RADIA|MUTECT|MUSE	.	CGCAGGTAACC	NONE	.	.	.	.	.	ENSP00000360689	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000371627	Transcript	.	.	ENSG00000107854	15677	.	.	HIGH	1/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,splice_donor_variant,,ENST00000371627,;TNKS2-AS1,upstream_gene_variant,,ENST00000432246,;TNKS2-AS1,upstream_gene_variant,,ENST00000432938,;	.	76	68	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123489506	123489506	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	105	0	ENST00000529750.1:c.2007A>T	p.Glu669Asp	p.E669D	ENST00000529750	NM_020716.1	669	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS53720.1	2007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAAAGGTA	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	18/20	.	.	.	.	.	.	.	.	.	18/20	nonpreferredpair	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.45)	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,missense_variant,p.Glu669Asp,ENST00000322282,;GRAMD1B,missense_variant,p.Glu676Asp,ENST00000456860,;GRAMD1B,missense_variant,p.Glu356Asp,ENST00000450171,;GRAMD1B,missense_variant,p.Glu629Asp,ENST00000529432,;GRAMD1B,missense_variant,p.Glu669Asp,ENST00000529750,;GRAMD1B,splice_region_variant,,ENST00000525945,;GRAMD1B,splice_region_variant,,ENST00000532581,;	2334	105	93	SUCCESS
CCDC15	80071	.	GRCh37	11	124861393	124861393	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372616952	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	57	0	ENST00000344762.5:c.1945G>A	p.Asp649Asn	p.D649N	ENST00000344762	NM_025004.2	649	Gat/Aat	0	T:0.0003	.	.	.	.	A	D/N	protein_coding	YES	CCDS44756.1	1945	MUTECT|MUSE|VARSCANS	.	TGACAGATGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14817	.	T:0	ENSP00000341684	.	9/16	.	.	.	.	.	.	.	.	rs372616952	9/16	nonpreferredpair	ENST00000344762	Transcript	.	.	ENSG00000149548	25798	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.7)	.	CCD15_HUMAN	CCDC15	HGNC	.	.	UPI0000EE3BEA	SNV	CCDC15,missense_variant,p.Asp649Asn,ENST00000344762,;CCDC15,missense_variant,p.Asp649Asn,ENST00000529051,;	2204	57	42	SUCCESS
OR51D1	390038	.	GRCh37	11	4661048	4661048	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1295960190	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	79	0	ENST00000357605.2:c.28A>G	p.Ile10Val	p.I10V	ENST00000357605	NM_001004751.2	10	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31357.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTATCATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62	.	.	ENSP00000350222	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000357605	Transcript	.	.	ENSG00000197428	15193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	O51D1_HUMAN	OR51D1	HGNC	.	.	UPI000004B21E	SNV	OR51D1,missense_variant,p.Ile10Val,ENST00000357605,;OR51E1,upstream_gene_variant,,ENST00000396952,;	104	79	47	SUCCESS
OR51T1	401665	.	GRCh37	11	4903313	4903313	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	91	0	ENST00000322049.1:c.184T>A	p.Tyr62Asn	p.Y62N	ENST00000322049		62	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS31363.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTATTAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000369738	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000380378	Transcript	.	.	ENSG00000176900	15205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O51T1_HUMAN	OR51T1	HGNC	.	.	UPI000015F1FF	SNV	OR51T1,missense_variant,p.Tyr89Asn,ENST00000380378,;OR51T1,missense_variant,p.Tyr62Asn,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;OR51H2P,downstream_gene_variant,,ENST00000413036,;	265	91	74	SUCCESS
OTUB1	55611	.	GRCh37	11	63755856	63755856	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	75	0	ENST00000428192.2:c.106C>A	p.Arg36=	p.R36=	ENST00000428192		36	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8055.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCGAATT	NONE	.	.	hmmpanther:PTHR12931,hmmpanther:PTHR12931:SF16,PIRSF_domain:PIRSF013503	.	.	ENSP00000444357	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000538426	Transcript	.	.	ENSG00000167770	23077	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTUB1_HUMAN	OTUB1	HGNC	F5GYN4_HUMAN	.	UPI000000D868	SNV	OTUB1,synonymous_variant,p.%3D,ENST00000543988,;OTUB1,synonymous_variant,p.%3D,ENST00000543004,;OTUB1,synonymous_variant,p.%3D,ENST00000538426,;OTUB1,synonymous_variant,p.%3D,ENST00000535715,;OTUB1,synonymous_variant,p.%3D,ENST00000422031,;OTUB1,synonymous_variant,p.%3D,ENST00000541478,;OTUB1,synonymous_variant,p.%3D,ENST00000428192,;AP000721.4,downstream_gene_variant,,ENST00000535431,;OTUB1,non_coding_transcript_exon_variant,,ENST00000536443,;OTUB1,synonymous_variant,p.%3D,ENST00000535140,;OTUB1,non_coding_transcript_exon_variant,,ENST00000447683,;OTUB1,non_coding_transcript_exon_variant,,ENST00000301453,;	150	75	75	SUCCESS
NAALADL1	10004	.	GRCh37	11	64820704	64820704	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	29	170	0	ENST00000358658.3:c.1184C>T	p.Thr395Ile	p.T395I	ENST00000358658	NM_005468.2	395	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31604.1	1184	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGTCCCC	NONE	.	.	hmmpanther:PTHR10404:SF40,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000351484	.	8/18	.	.	.	.	.	.	.	.	.	8/18	nonpreferredpair	ENST00000358658	Transcript	.	.	ENSG00000168060	23536	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.229)	.	tolerated(0.07)	.	NALDL_HUMAN	NAALADL1	HGNC	E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN	.	UPI000013E761	SNV	NAALADL1,missense_variant,p.Thr360Ile,ENST00000356632,;NAALADL1,missense_variant,p.Thr395Ile,ENST00000339885,;NAALADL1,missense_variant,p.Thr395Ile,ENST00000355369,;NAALADL1,missense_variant,p.Thr395Ile,ENST00000358658,;NAALADL1,missense_variant,p.Thr354Ile,ENST00000355721,;NAALADL1,missense_variant,p.Thr446Ile,ENST00000340252,;NAALADL1,upstream_gene_variant,,ENST00000533340,;NAALADL1,upstream_gene_variant,,ENST00000526799,;NAALADL1,upstream_gene_variant,,ENST00000528884,;NAALADL1,upstream_gene_variant,,ENST00000530995,;RN7SL114P,upstream_gene_variant,,ENST00000582042,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,upstream_gene_variant,,ENST00000532432,;NAALADL1,upstream_gene_variant,,ENST00000524445,;	1212	170	186	SUCCESS
DGAT2	84649	.	GRCh37	11	75509440	75509440	+	synonymous_variant	Silent	SNP	G	G	T	rs780073056	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	81	1	ENST00000228027.7:c.978G>T	p.Gly326=	p.G326=	ENST00000228027	NM_032564.4	326	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31642.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGCTGGT	NONE	.	.	Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF14	.	.	ENSP00000228027	.	7/8	.	.	.	.	.	.	.	.	rs780073056	7/8	nonpreferredpair	ENST00000228027	Transcript	.	.	ENSG00000062282	16940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGAT2_HUMAN	DGAT2	HGNC	S4R449_HUMAN,S4R3Z3_HUMAN,S4R383_HUMAN	.	UPI0000048F05	SNV	DGAT2,synonymous_variant,p.%3D,ENST00000228027,;DGAT2,synonymous_variant,p.%3D,ENST00000376262,;DGAT2,synonymous_variant,p.%3D,ENST00000604733,;DGAT2,downstream_gene_variant,,ENST00000603276,;DGAT2,downstream_gene_variant,,ENST00000604935,;DGAT2,downstream_gene_variant,,ENST00000605099,;RP11-535A19.1,downstream_gene_variant,,ENST00000534354,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603363,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603865,;	1238	82	54	SUCCESS
GLT8D2	83468	.	GRCh37	12	104388181	104388181	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	17	138	0	ENST00000360814.4:c.699C>G	p.Ala233=	p.A233=	ENST00000360814	NM_031302.3	233	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9096.1	699	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGGCAAC	NONE	.	.	hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448	.	.	ENSP00000354053	.	9/11	.	.	.	.	.	.	.	.	.	9/11	nonpreferredpair	ENST00000360814	Transcript	.	.	ENSG00000120820	24890	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GL8D2_HUMAN	GLT8D2	HGNC	F8VZP2_HUMAN	.	UPI000004B633	SNV	GLT8D2,synonymous_variant,p.%3D,ENST00000360814,;GLT8D2,synonymous_variant,p.%3D,ENST00000548660,;GLT8D2,synonymous_variant,p.%3D,ENST00000546436,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000552572,;GLT8D2,downstream_gene_variant,,ENST00000550816,;	1105	138	112	SUCCESS
BTBD11	121551	.	GRCh37	12	108012091	108012091	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	82	0	ENST00000280758.5:c.2388G>T	p.Arg796Ser	p.R796S	ENST00000280758	NM_001018072.1	796	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31893.1	2388	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGAGGC	NONE	.	.	hmmpanther:PTHR24413:SF76,hmmpanther:PTHR24413	.	.	ENSP00000280758	.	10/17	.	.	.	.	.	.	.	.	.	10/17	nonpreferredpair	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.427)	.	deleterious(0.01)	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,missense_variant,p.Arg796Ser,ENST00000490090,;BTBD11,missense_variant,p.Arg796Ser,ENST00000280758,;BTBD11,missense_variant,p.Arg333Ser,ENST00000357167,;BTBD11,intron_variant,,ENST00000420571,;RP11-128P10.1,upstream_gene_variant,,ENST00000548473,;	2916	82	74	SUCCESS
SPATS2	65244	.	GRCh37	12	49919817	49919817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	43	242	0	ENST00000321898.6:c.1417A>G	p.Met473Val	p.M473V	ENST00000321898		473	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS31794.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTATGGGT	NONE	.	.	hmmpanther:PTHR15623:SF9,hmmpanther:PTHR15623	.	.	ENSP00000448228	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000553127	Transcript	.	.	ENSG00000123352	18650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.35)	.	SPAS2_HUMAN	SPATS2	HGNC	F8W128_HUMAN,F8VZS5_HUMAN,F8VXP9_HUMAN,F8VXB3_HUMAN,F8VX46_HUMAN,F8VRH4_HUMAN	.	UPI0000171C5F	SNV	SPATS2,missense_variant,p.Met473Val,ENST00000321898,;SPATS2,missense_variant,p.Met473Val,ENST00000553127,;SPATS2,missense_variant,p.Met473Val,ENST00000552918,;SPATS2,intron_variant,,ENST00000547003,;SPATS2,3_prime_UTR_variant,,ENST00000549412,;SPATS2,downstream_gene_variant,,ENST00000548727,;	1930	242	207	SUCCESS
ASIC1	41	.	GRCh37	12	50473752	50473752	+	synonymous_variant	Silent	SNP	C	C	T	rs1171844385	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	46	286	0	ENST00000447966.2:c.1119C>T	p.Gly373=	p.G373=	ENST00000447966	NM_001095.3	373	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8796.1	1119	RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCAAAGA	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110,Pfam_domain:PF00858,Prints_domain:PR01078	.	.	ENSP00000228468	.	8/12	.	.	.	.	.	.	.	.	.	8/12	nonpreferredpair	ENST00000228468	Transcript	.	.	ENSG00000110881	100	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASIC1_HUMAN	ASIC1	HGNC	.	.	UPI000013C8D6	SNV	ASIC1,synonymous_variant,p.%3D,ENST00000228468,;ASIC1,synonymous_variant,p.%3D,ENST00000552438,;ASIC1,synonymous_variant,p.%3D,ENST00000453327,;ASIC1,synonymous_variant,p.%3D,ENST00000447966,;ASIC1,upstream_gene_variant,,ENST00000552633,;ASIC1,3_prime_UTR_variant,,ENST00000550558,;ASIC1,non_coding_transcript_exon_variant,,ENST00000551199,;ASIC1,downstream_gene_variant,,ENST00000549792,;ASIC1,downstream_gene_variant,,ENST00000548350,;	1504	286	277	SUCCESS
RAB3IP	117177	.	GRCh37	12	70206599	70206599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1156530661	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	123	0	ENST00000550536.1:c.1220G>A	p.Arg407Lys	p.R407K	ENST00000550536	NM_175623.3	407	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS8993.1	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGAATTA	NONE	.	.	hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430	.	.	ENSP00000447300	.	9/11	.	.	.	.	.	.	.	.	.	9/11	nonpreferredpair	ENST00000550536	Transcript	.	.	ENSG00000127328	16508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.04)	.	RAB3I_HUMAN	RAB3IP	HGNC	F8VNX9_HUMAN	.	UPI000006EB02	SNV	RAB3IP,missense_variant,p.Arg98Lys,ENST00000550847,;RAB3IP,missense_variant,p.Arg185Lys,ENST00000553099,;RAB3IP,missense_variant,p.Arg407Lys,ENST00000550536,;RAB3IP,missense_variant,p.Arg391Lys,ENST00000247833,;RAB3IP,missense_variant,p.Arg185Lys,ENST00000325555,;RAB3IP,missense_variant,p.Arg123Lys,ENST00000526994,;RAB3IP,missense_variant,p.Arg185Lys,ENST00000551641,;RAB3IP,3_prime_UTR_variant,,ENST00000550647,;RAB3IP,intron_variant,,ENST00000483530,;RAB3IP,intron_variant,,ENST00000362025,;AC025263.3,missense_variant,p.Arg32Lys,ENST00000550437,;RAB3IP,3_prime_UTR_variant,,ENST00000552199,;RAB3IP,3_prime_UTR_variant,,ENST00000417413,;RAB3IP,non_coding_transcript_exon_variant,,ENST00000552610,;RAB3IP,non_coding_transcript_exon_variant,,ENST00000481897,;RAB3IP,intron_variant,,ENST00000378809,;	1677	123	66	SUCCESS
DAAM1	23002	.	GRCh37	14	59821978	59821978	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	93	0	ENST00000395125.1:c.2482C>G	p.Gln828Glu	p.Q828E	ENST00000395125	NM_014992.2	828	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9737.1	2482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCAAAGA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000378557	.	20/25	.	.	.	.	.	.	.	.	.	20/25	nonpreferredpair	ENST00000395125	Transcript	.	.	ENSG00000100592	18142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.09)	.	DAAM1_HUMAN	DAAM1	HGNC	.	.	UPI0000161FAA	SNV	DAAM1,missense_variant,p.Gln828Glu,ENST00000351081,;DAAM1,missense_variant,p.Gln828Glu,ENST00000395125,;DAAM1,missense_variant,p.Gln818Glu,ENST00000360909,;DAAM1,non_coding_transcript_exon_variant,,ENST00000554459,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553966,;DAAM1,upstream_gene_variant,,ENST00000557029,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553307,;DAAM1,upstream_gene_variant,,ENST00000557628,;	2505	93	57	SUCCESS
DHRS7	51635	.	GRCh37	14	60631900	60631900	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	19	207	0	ENST00000216500.5:c.128G>A	p.Arg43His	p.R43H	ENST00000216500		43	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9743.1	128	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGTCGT	NONE	.	.	PIRSF_domain:PIRSF000126	.	.	ENSP00000216500	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000216500	Transcript	.	.	ENSG00000100612	21524	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	tolerated(0.06)	.	DHRS7_HUMAN	DHRS7	HGNC	G3V5J0_HUMAN	.	UPI000004C78C	SNV	DHRS7,missense_variant,p.Arg43His,ENST00000557137,;DHRS7,missense_variant,p.Arg43His,ENST00000557185,;DHRS7,missense_variant,p.Arg43His,ENST00000557326,;DHRS7,missense_variant,p.Arg43His,ENST00000216500,;DHRS7,missense_variant,p.Arg38His,ENST00000554101,;DHRS7,intron_variant,,ENST00000536410,;PCNXL4,intron_variant,,ENST00000406949,;PCNXL4,intron_variant,,ENST00000553898,;DHRS7,downstream_gene_variant,,ENST00000553328,;DHRS7,non_coding_transcript_exon_variant,,ENST00000555171,;DHRS7,non_coding_transcript_exon_variant,,ENST00000556502,;	584	207	177	SUCCESS
FAM227B	196951	.	GRCh37	15	49620847	49620850	+	frameshift_variant	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs762888521	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	TCTC	TCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	85	0	ENST00000299338.6:c.1442_1445del	p.Arg481AsnfsTer33	p.R481Nfs*33	ENST00000299338	NM_152647.2	481	aGAGAa/aa	0	.	.	.	.	.	-	RE/X	protein_coding	YES	CCDS32237.1	1442-1445	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACATTCTCTCTCA	NONE	byFrequency	.	.	.	.	ENSP00000299338	.	16/16	.	.	.	.	.	.	.	.	rs762888521	16/16	nonpreferredpair	ENST00000299338	Transcript	.	.	ENSG00000166262	26543	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F227B_HUMAN	FAM227B	HGNC	H0YLX5_HUMAN	.	UPI0000D6133A	deletion	FAM227B,frameshift_variant,p.Arg481AsnfsTer33,ENST00000299338,;FAM227B,3_prime_UTR_variant,,ENST00000559573,;GALK2,3_prime_UTR_variant,,ENST00000327171,;GALK2,intron_variant,,ENST00000558399,;GALK2,intron_variant,,ENST00000560528,;GALK2,intron_variant,,ENST00000559580,;GALK2,downstream_gene_variant,,ENST00000559454,;GALK2,downstream_gene_variant,,ENST00000560031,;GALK2,downstream_gene_variant,,ENST00000543495,;GALK2,downstream_gene_variant,,ENST00000396509,;GALK2,downstream_gene_variant,,ENST00000544523,;FAM227B,non_coding_transcript_exon_variant,,ENST00000560557,;GALK2,downstream_gene_variant,,ENST00000560119,;	1746-1749	85	62	SUCCESS
SMG1	23049	.	GRCh37	16	18853630	18853630	+	synonymous_variant	Silent	SNP	A	A	G	rs754045372	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	109	0	ENST00000446231.2:c.6366T>C	p.His2122=	p.H2122=	ENST00000446231		2122	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS45430.1	6366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTATGGAT	NONE	byFrequency	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112	.	.	ENSP00000402515	.	40/63	.	.	.	.	.	.	.	.	rs754045372	40/63	nonpreferredpair	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,synonymous_variant,p.%3D,ENST00000389467,;SMG1,synonymous_variant,p.%3D,ENST00000565324,;SMG1,synonymous_variant,p.%3D,ENST00000446231,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;	6779	109	76	SUCCESS
TSC2	7249	.	GRCh37	16	2136306	2136311	+	inframe_deletion	In_Frame_Del	DEL	TGTACC	TGTACC	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	TGTACC	TGTACC	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	172	0	ENST00000219476.3:c.4777_4782del	p.Tyr1593_Leu1594del	p.Y1593_L1594del	ENST00000219476	NM_000548.3	1592	gTGTACCtg/gtg	0	.	.	.	.	.	-	VYL/V	protein_coding	YES	CCDS10458.1	4775-4780	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAGGTGTACCTGGGA	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000219476	.	37/42	.	.	.	.	.	.	.	.	.	37/42	nonpreferredpair	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,inframe_deletion,p.Tyr1490_Leu1491del,ENST00000439673,;TSC2,inframe_deletion,p.Tyr1593_Leu1594del,ENST00000219476,;TSC2,inframe_deletion,p.Tyr1537_Leu1538del,ENST00000568454,;TSC2,inframe_deletion,p.Tyr321_Leu322del,ENST00000569110,;TSC2,inframe_deletion,p.Tyr1526_Leu1527del,ENST00000401874,;TSC2,inframe_deletion,p.Tyr1550_Leu1551del,ENST00000353929,;TSC2,inframe_deletion,p.Tyr1570_Leu1571del,ENST00000350773,;TSC2,inframe_deletion,p.Tyr1478_Leu1479del,ENST00000382538,;PKD1,downstream_gene_variant,,ENST00000262304,;PKD1,downstream_gene_variant,,ENST00000423118,;MIR1225,downstream_gene_variant,,ENST00000408729,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000564313,;	5405-5410	172	153	SUCCESS
PALB2	79728	.	GRCh37	16	23646654	23646654	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs545119348	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	27	0	ENST00000261584.4:c.1213C>A	p.Pro405Thr	p.P405T	ENST00000261584	NM_024675.3	405	Cct/Act	0	.	C:0	.	C:0	.	T	P/T	protein_coding	YES	CCDS32406.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGAAACA	NONE	by1000G	.	hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662	C:0.001	.	ENSP00000261584	C:0	4/13	.	.	.	.	.	.	.	.	rs545119348	4/13	nonpreferredpair	ENST00000261584	Transcript	.	C:0.0002	ENSG00000083093	26144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	C:0	deleterious(0)	.	PALB2_HUMAN	PALB2	HGNC	.	.	UPI000000DA86	SNV	PALB2,missense_variant,p.Pro405Thr,ENST00000261584,;PALB2,downstream_gene_variant,,ENST00000561514,;PALB2,3_prime_UTR_variant,,ENST00000568219,;PALB2,intron_variant,,ENST00000565038,;PALB2,downstream_gene_variant,,ENST00000567003,;	1366	27	21	SUCCESS
NLRC5	84166	.	GRCh37	16	57060281	57060281	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	104	0	ENST00000262510.6:c.1426T>A	p.Tyr476Asn	p.Y476N	ENST00000262510	NM_032206.4	476	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS10773.1	1426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTATGCA	NONE	.	.	hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106	.	.	ENSP00000262510	.	6/49	.	.	.	.	.	.	.	.	.	6/49	nonpreferredpair	ENST00000262510	Transcript	.	.	ENSG00000140853	29933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	.	tolerated(0.12)	.	NLRC5_HUMAN	NLRC5	HGNC	F5H274_HUMAN,F5GYP0_HUMAN	.	UPI00001AEE94	SNV	NLRC5,missense_variant,p.Tyr476Asn,ENST00000308149,;NLRC5,missense_variant,p.Tyr229Asn,ENST00000538805,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000539144,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000436936,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000262510,;NLRC5,upstream_gene_variant,,ENST00000543030,;NLRC5,upstream_gene_variant,,ENST00000538110,;NLRC5,missense_variant,p.Tyr476Asn,ENST00000539881,;NLRC5,missense_variant,p.Tyr204Asn,ENST00000545081,;NLRC5,upstream_gene_variant,,ENST00000536231,;	1651	104	58	SUCCESS
ADAD2	161931	.	GRCh37	16	84228660	84228660	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	C	C	G	rs377393194	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	105	0	ENST00000315906.5:c.608-15C>G		p.*203*	ENST00000315906	NM_001145400.1			0	G:0	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS10944.1	.	MUTECT|MUSE|VARSCANS	.	AGTCTCTCGCC	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0001	ENSP00000268624	G:0	.	.	.	.	.	.	.	.	.	rs377393194	.	nonpreferredpair	ENST00000268624	Transcript	.	G:0.0004	ENSG00000140955	30714	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	3	.	.	.	.	G:0.002	.	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,intron_variant,,ENST00000315906,;ADAD2,intron_variant,,ENST00000567685,;ADAD2,intron_variant,,ENST00000268624,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000569834,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,intron_variant,,ENST00000566526,;ADAD2,intron_variant,,ENST00000564169,;ADAD2,intron_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;	.	105	110	SUCCESS
ANKFN1	162282	.	GRCh37	17	54535232	54535232	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	54	0	ENST00000318698.2:c.1458T>C	p.Cys486=	p.C486=	ENST00000318698	NM_153228.2	486	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS32686.1	1458	MUTECT|MUSE	.	TCTTGTATGTG	NONE	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	13/17	.	.	.	.	.	.	.	.	.	13/17	nonpreferredpair	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,synonymous_variant,p.%3D,ENST00000318698,;ANKFN1,synonymous_variant,p.%3D,ENST00000566473,;ANKFN1,non_coding_transcript_exon_variant,,ENST00000572321,;	1493	54	47	SUCCESS
SLC2A4	6517	.	GRCh37	17	7187403	7187403	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748046529	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	79	0	ENST00000317370.8:c.559G>T	p.Ala187Ser	p.A187S	ENST00000317370	NM_001042.2	187	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11097.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCGCCCAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF14,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000320935	.	5/11	.	.	.	.	.	.	.	.	rs748046529	5/11	nonpreferredpair	ENST00000317370	Transcript	.	.	ENSG00000181856	11009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.79)	.	tolerated(0.85)	.	GTR4_HUMAN	SLC2A4	HGNC	.	.	UPI000004F0B3	SNV	SLC2A4,missense_variant,p.Ala187Ser,ENST00000317370,;SLC2A4,missense_variant,p.Ala177Ser,ENST00000424875,;SLC2A4,missense_variant,p.Ala187Ser,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000571464,;YBX2,downstream_gene_variant,,ENST00000007699,;RP1-4G17.2,upstream_gene_variant,,ENST00000576271,;SLC2A4,missense_variant,p.Ala187Ser,ENST00000572485,;SLC2A4,intron_variant,,ENST00000570783,;YBX2,downstream_gene_variant,,ENST00000571485,;YBX2,downstream_gene_variant,,ENST00000571834,;	827	80	54	SUCCESS
TP53	7157	.	GRCh37	17	7576633	7576633	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	101	0	ENST00000269305.4:c.993+220A>G		p.*331*	ENST00000269305	NM_001126112.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATTTTCTT	CODON|p.0?|c.1_1182del1182|6	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Asn340Asp,ENST00000420246,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000269305,;TP53,intron_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000445888,;TP53,intron_variant,,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,intron_variant,,ENST00000504937,;TP53,intron_variant,,ENST00000504290,;TP53,downstream_gene_variant,,ENST00000505014,;	.	101	40	SUCCESS
DNAH17	8632	.	GRCh37	17	76482177	76482177	+	synonymous_variant	Silent	SNP	G	G	T	rs555133387	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	54	1	ENST00000389840.5:c.7098C>A	p.Ile2366=	p.I2366=	ENST00000389840		2366	atC/atA	0	.	A:0	.	A:0.0029	.	T	I	protein_coding	YES	.	7098	RADIA|MUTECT	.	TCGTTGATCCA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	A:0	.	ENSP00000374490	A:0	46/81	.	.	.	.	.	.	.	.	rs555133387	46/81	nonpreferredpair	ENST00000389840	Transcript	.	A:0.0004	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;RP11-559N14.5,intron_variant,,ENST00000585969,;RP11-559N14.5,intron_variant,,ENST00000588565,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;	7223	55	39	SUCCESS
GREB1L	80000	.	GRCh37	18	19079942	19079942	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1462784198	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	73	0	ENST00000424526.1:c.3644G>A	p.Gly1215Glu	p.G1215E	ENST00000424526	NM_001142966.1	1215	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45836.1	3644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGGACAGC	NONE	.	.	hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720	.	.	ENSP00000464162	.	22/33	.	.	.	.	.	.	.	.	.	22/33	nonpreferredpair	ENST00000580732	Transcript	.	.	ENSG00000141449	31042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.11)	.	GRB1L_HUMAN	GREB1L	HGNC	.	.	UPI0001642876	SNV	GREB1L,missense_variant,p.Gly1106Glu,ENST00000269218,;GREB1L,missense_variant,p.Gly1215Glu,ENST00000424526,;GREB1L,missense_variant,p.Gly1215Glu,ENST00000580732,;GREB1L,3_prime_UTR_variant,,ENST00000400483,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578955,;	4025	73	50	SUCCESS
JAK3	3718	.	GRCh37	19	17943612	17943612	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	30	187	0	ENST00000458235.1:c.2477C>T	p.Ser826Leu	p.S826L	ENST00000458235	NM_000215.3	826	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS12366.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGAGATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000391676	.	18/24	.	.	.	.	.	.	.	.	.	18/24	nonpreferredpair	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	tolerated(0.06)	.	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Ser826Leu,ENST00000458235,;JAK3,missense_variant,p.Ser826Leu,ENST00000534444,;JAK3,missense_variant,p.Ser826Leu,ENST00000527670,;JAK3,intron_variant,,ENST00000527031,;	2577	187	179	SUCCESS
NCLN	56926	.	GRCh37	19	3206308	3206308	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	105	0	ENST00000246117.4:c.1384C>T	p.Gln462Ter	p.Q462*	ENST00000246117	NM_020170.3	462	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32869.1	1384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCAGCCG	NONE	.	.	hmmpanther:PTHR31826:SF1,hmmpanther:PTHR31826,PIRSF_domain:PIRSF011018	.	.	ENSP00000246117	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000246117	Transcript	.	.	ENSG00000125912	26923	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCLN_HUMAN	NCLN	HGNC	K7EMW4_HUMAN,B2RA56_HUMAN	.	UPI0000203033	SNV	NCLN,stop_gained,p.Gln388Ter,ENST00000590671,;NCLN,stop_gained,p.Gln462Ter,ENST00000246117,;NCLN,stop_gained,p.Gln181Ter,ENST00000592737,;NCLN,upstream_gene_variant,,ENST00000592235,;NCLN,downstream_gene_variant,,ENST00000588428,;NCLN,upstream_gene_variant,,ENST00000591062,;NCLN,stop_gained,p.Gln249Ter,ENST00000587740,;NCLN,3_prime_UTR_variant,,ENST00000586904,;	1815	105	100	SUCCESS
RYR1	6261	.	GRCh37	19	39071081	39071081	+	synonymous_variant	Silent	SNP	C	C	T	rs755854964	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	39	181	0	ENST00000359596.3:c.14583C>T	p.Arg4861=	p.R4861=	ENST00000359596		4861	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33011.1	14583	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGCAAGTT	NONE	byFrequency	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF00520	.	.	ENSP00000352608	.	101/106	.	.	.	.	.	.	.	.	rs755854964	101/106	nonpreferredpair	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;	14583	181	232	SUCCESS
PHLDB3	653583	.	GRCh37	19	43990929	43990929	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	59	0	ENST00000292140.5:c.1340+3G>A		p.X447_splice	ENST00000292140	NM_198850.3	447		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12621.2	.	RADIA|MUSE|VARSCANS	.	TGTCTCACCTA	NONE	.	.	.	.	.	ENSP00000292140	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000292140	Transcript	.	.	ENSG00000176531	30499	.	.	LOW	11/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHLB3_HUMAN	PHLDB3	HGNC	M0R3I7_HUMAN,M0R038_HUMAN	.	UPI00015C725F	SNV	PHLDB3,splice_region_variant,,ENST00000292140,;PHLDB3,splice_region_variant,,ENST00000596141,;PHLDB3,intron_variant,,ENST00000600660,;PHLDB3,splice_region_variant,,ENST00000595498,;PHLDB3,splice_region_variant,,ENST00000598849,;	.	59	81	SUCCESS
C19orf10	0	.	GRCh37	19	4664897	4664897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	96	0	ENST00000262947.3:c.278C>A	p.Thr93Asn	p.T93N	ENST00000262947	NM_019107.3	93	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS12133.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGTGCAG	NONE	.	.	hmmpanther:PTHR31230:SF1,hmmpanther:PTHR31230,Pfam_domain:PF10572	.	.	ENSP00000262947	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000262947	Transcript	.	.	ENSG00000074842	16948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.399)	.	deleterious(0.05)	.	CS010_HUMAN	C19orf10	HGNC	.	.	UPI00000711E5	SNV	C19orf10,missense_variant,p.Thr93Asn,ENST00000262947,;C19orf10,missense_variant,p.Thr8Asn,ENST00000599761,;C19orf10,missense_variant,p.Thr93Asn,ENST00000599630,;C19orf10,non_coding_transcript_exon_variant,,ENST00000596031,;	314	96	83	SUCCESS
CD37	951	.	GRCh37	19	49841271	49841271	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	54	144	0	ENST00000323906.4:c.432C>G	p.Asp144Glu	p.D144E	ENST00000323906	NM_001774.2	144	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS12760.1	432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACTATGT	NONE	.	.	hmmpanther:PTHR19282:SF185,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000325708	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000323906	Transcript	.	.	ENSG00000104894	1666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.463)	.	tolerated(0.06)	.	CD37_HUMAN	CD37	HGNC	M0R083_HUMAN	.	UPI0000127350	SNV	CD37,missense_variant,p.Asp144Glu,ENST00000323906,;CD37,missense_variant,p.Asp144Glu,ENST00000535669,;CD37,missense_variant,p.Asp33Glu,ENST00000594743,;CD37,missense_variant,p.Asp76Glu,ENST00000426897,;CD37,missense_variant,p.Asp76Glu,ENST00000598095,;TEAD2,downstream_gene_variant,,ENST00000311227,;TEAD2,downstream_gene_variant,,ENST00000598810,;TEAD2,downstream_gene_variant,,ENST00000377214,;TEAD2,downstream_gene_variant,,ENST00000593945,;CD37,downstream_gene_variant,,ENST00000597602,;TEAD2,downstream_gene_variant,,ENST00000539846,;CD37,downstream_gene_variant,,ENST00000595660,;TEAD2,downstream_gene_variant,,ENST00000601519,;CTC-301O7.4,intron_variant,,ENST00000358234,;CTC-301O7.4,intron_variant,,ENST00000602554,;CTC-301O7.4,downstream_gene_variant,,ENST00000602721,;CD37,non_coding_transcript_exon_variant,,ENST00000596426,;CD37,downstream_gene_variant,,ENST00000597033,;CD37,upstream_gene_variant,,ENST00000600121,;CD37,3_prime_UTR_variant,,ENST00000391859,;CD37,3_prime_UTR_variant,,ENST00000595725,;CD37,non_coding_transcript_exon_variant,,ENST00000597852,;CD37,downstream_gene_variant,,ENST00000593512,;CD37,downstream_gene_variant,,ENST00000598134,;	573	144	173	SUCCESS
A1BG	1	.	GRCh37	19	58862780	58862780	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs542119157	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	57	0	ENST00000263100.3:c.887C>T	p.Pro296Leu	p.P296L	ENST00000263100	NM_130786.3	296	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS12976.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCGGCGCG	NONE	by1000G	.	hmmpanther:PTHR11738:SF3,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	A:0	.	ENSP00000263100	A:0	5/8	.	.	.	.	.	.	.	.	rs542119157,COSM1735117	5/8	nonpreferredpair	ENST00000263100	Transcript	.	A:0.0002	ENSG00000121410	5	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.996)	A:0.001	deleterious(0)	0,1	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	SNV	A1BG,missense_variant,p.Pro279Leu,ENST00000600966,;A1BG,missense_variant,p.Pro296Leu,ENST00000263100,;ZNF497,downstream_gene_variant,,ENST00000425453,;ZNF497,downstream_gene_variant,,ENST00000311044,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;A1BG-AS1,upstream_gene_variant,,ENST00000595302,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	949	57	86	SUCCESS
PTPN22	26191	.	GRCh37	1	114380848	114380848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	55	0	ENST00000359785.5:c.1174G>A	p.Asp392Asn	p.D392N	ENST00000359785	NM_015967.5	392	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS863.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTCAGCAT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF260,PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	13/21	.	.	.	.	.	.	.	.	.	13/21	nonpreferredpair	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.38)	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Asp337Asn,ENST00000528414,;PTPN22,missense_variant,p.Asp392Asn,ENST00000420377,;PTPN22,missense_variant,p.Asp392Asn,ENST00000359785,;PTPN22,missense_variant,p.Asp265Asn,ENST00000525799,;PTPN22,missense_variant,p.Asp148Asn,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	1310	55	47	SUCCESS
HIPK1	204851	.	GRCh37	1	114505036	114505036	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755205995	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	73	0	ENST00000369558.1:c.2079G>T	p.Gln693His	p.Q693H	ENST00000369558		693	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS867.1	2079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGATTCA	NONE	.	.	hmmpanther:PTHR24058:SF43,hmmpanther:PTHR24058,Low_complexity_(Seg):seg	.	.	ENSP00000358571	.	9/16	.	.	.	.	.	.	.	.	rs755205995	9/16	nonpreferredpair	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	tolerated(0.16)	.	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,missense_variant,p.Gln659His,ENST00000369561,;HIPK1,missense_variant,p.Gln693His,ENST00000369554,;HIPK1,missense_variant,p.Gln299His,ENST00000406344,;HIPK1,missense_variant,p.Gln693His,ENST00000426820,;HIPK1,missense_variant,p.Gln299His,ENST00000369553,;HIPK1,missense_variant,p.Gln693His,ENST00000369559,;HIPK1,missense_variant,p.Gln693His,ENST00000369558,;HIPK1,missense_variant,p.Gln693His,ENST00000369555,;HIPK1,missense_variant,p.Gln319His,ENST00000340480,;HIPK1,upstream_gene_variant,,ENST00000361587,;	2311	73	69	SUCCESS
DVL1	1855	.	GRCh37	1	1277480	1277480	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147424815	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	24	109	0	ENST00000378888.5:c.419T>C	p.Met140Thr	p.M140T	ENST00000378888		140	aTg/aCg	0	G:0	.	.	.	.	G	M/T	protein_coding	YES	CCDS22.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCATGGAC	NONE	byCluster	.	hmmpanther:PTHR10878:SF5,hmmpanther:PTHR10878	.	G:0.0001	ENSP00000368169	.	4/15	.	.	.	.	.	.	.	.	rs147424815	4/15	nonpreferredpair	ENST00000378891	Transcript	.	.	ENSG00000107404	3084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.16)	.	DVL1_HUMAN	DVL1	HGNC	Q6PJD6_HUMAN,B7Z6B5_HUMAN,B7Z1E8_HUMAN	.	UPI000013D455	SNV	DVL1,missense_variant,p.Met140Thr,ENST00000378891,;DVL1,missense_variant,p.Met140Thr,ENST00000378888,;DVL1,non_coding_transcript_exon_variant,,ENST00000472445,;	466	109	132	SUCCESS
OR10K2	391107	.	GRCh37	1	158389923	158389923	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	17	216	0	ENST00000314902.2:c.734T>A	p.Leu245His	p.L245H	ENST00000314902	NM_001004476.1	245	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS30896.1	734	RADIA|MUTECT|MUSE|VARSCANS	.	TAATGAGGTGA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF325,PROSITE_profiles:PS50262	.	.	ENSP00000324251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000314902	Transcript	.	.	ENSG00000180708	14826	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O10K2_HUMAN	OR10K2	HGNC	.	.	UPI0000041BC2	SNV	OR10K2,missense_variant,p.Leu245His,ENST00000314902,;	734	216	148	SUCCESS
OR10J5	127385	.	GRCh37	1	159504893	159504893	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	64	0	ENST00000334857.2:c.905G>C	p.Arg302Thr	p.R302T	ENST00000334857	NM_001004469.1	302	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS30910.1	905	RADIA|VARSCANS	.	CAACTCTGCAT	NONE	.	.	hmmpanther:PTHR24247:SF65,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334441	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000334857	Transcript	.	.	ENSG00000184155	14993	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.938)	.	deleterious(0.01)	.	O10J5_HUMAN	OR10J5	HGNC	.	.	UPI0000041E4E	SNV	OR10J5,missense_variant,p.Arg302Thr,ENST00000334857,;	950	64	48	SUCCESS
FCRLB	127943	.	GRCh37	1	161697408	161697408	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	111	0	ENST00000367948.2:c.1237G>A	p.Ala413Thr	p.A413T	ENST00000367948		413	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS30927.1	1237	MUTECT|MUSE	.	ACTTTGCTGTG	NONE	.	.	hmmpanther:PTHR11481:SF46,hmmpanther:PTHR11481	.	.	ENSP00000356925	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000367948	Transcript	.	.	ENSG00000162746	26431	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	deleterious_low_confidence(0.05)	.	FCRLB_HUMAN	FCRLB	HGNC	.	.	UPI00003FF782	SNV	FCRLB,missense_variant,p.Ala413Thr,ENST00000367948,;FCRLB,missense_variant,p.Ala413Thr,ENST00000392158,;FCRLB,3_prime_UTR_variant,,ENST00000367944,;FCRLB,3_prime_UTR_variant,,ENST00000336830,;FCRLB,3_prime_UTR_variant,,ENST00000367946,;FCRLB,3_prime_UTR_variant,,ENST00000367945,;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;	1452	111	108	SUCCESS
MFAP2	4237	.	GRCh37	1	17301519	17301519	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	102	0	ENST00000375535.3:c.449-1G>C		p.X150_splice	ENST00000375535		150		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS174.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCTATTG	NONE	.	.	.	.	.	ENSP00000364685	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000375535	Transcript	.	.	ENSG00000117122	7033	.	.	HIGH	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFAP2_HUMAN	MFAP2	HGNC	.	.	UPI000012F02C	SNV	MFAP2,splice_acceptor_variant,,ENST00000438542,;MFAP2,splice_acceptor_variant,,ENST00000375534,;MFAP2,splice_acceptor_variant,,ENST00000375535,;CROCC,downstream_gene_variant,,ENST00000375541,;RP1-37C10.3,upstream_gene_variant,,ENST00000446261,;MFAP2,splice_acceptor_variant,,ENST00000490075,;MFAP2,downstream_gene_variant,,ENST00000476788,;MFAP2,downstream_gene_variant,,ENST00000478684,;CROCC,downstream_gene_variant,,ENST00000465021,;CROCC,downstream_gene_variant,,ENST00000465291,;MFAP2,downstream_gene_variant,,ENST00000492598,;	.	102	59	SUCCESS
CACNA1E	777	.	GRCh37	1	181767462	181767462	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs189356042	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	40	0	ENST00000367573.2:c.6434C>G	p.Ser2145Cys	p.S2145C	ENST00000367573	NM_001205293.1	2145	tCt/tGt	0	.	T:0.0008	.	T:0	.	G	S/C	protein_coding	YES	CCDS55664.1	6434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCTGTCT	NONE	by1000G	.	.	T:0	.	ENSP00000356545	T:0	48/48	.	.	.	.	.	.	.	.	rs189356042,COSM3479841,COSM3479842,COSM3479840	48/48	nonpreferredpair	ENST00000367573	Transcript	.	T:0.0002	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.971)	T:0	deleterious(0)	0,1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ser2034Cys,ENST00000358338,;CACNA1E,missense_variant,p.Ser1709Cys,ENST00000367567,;CACNA1E,missense_variant,p.Ser2096Cys,ENST00000357570,;CACNA1E,missense_variant,p.Ser2126Cys,ENST00000360108,;CACNA1E,missense_variant,p.Ser2083Cys,ENST00000526775,;CACNA1E,missense_variant,p.Ser2145Cys,ENST00000367573,;CACNA1E,missense_variant,p.Ser2102Cys,ENST00000367570,;	6434	40	33	SUCCESS
KCNH1	3756	.	GRCh37	1	211192479	211192479	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	6	115	0	ENST00000271751.4:c.678C>G	p.Ile226Met	p.I226M	ENST00000271751		226	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1496.1	678	MUTECT|MUSE	.	GTCAAGATCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000271751	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Ile226Met,ENST00000367007,;KCNH1,missense_variant,p.Ile226Met,ENST00000271751,;	706	115	145	SUCCESS
PARP1	142	.	GRCh37	1	226595632	226595632	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	35	105	0	ENST00000366794.5:c.-2G>T		p.*1*	ENST00000366794	NM_001618.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1554.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCTCCCC	NONE	.	.	.	.	.	ENSP00000355759	.	1/23	.	.	.	.	.	.	.	.	.	1/23	nonpreferredpair	ENST00000366794	Transcript	.	.	ENSG00000143799	270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP1_HUMAN	PARP1	HGNC	Q96P95_HUMAN	.	UPI000013D92D	SNV	PARP1,5_prime_UTR_variant,,ENST00000366792,;PARP1,5_prime_UTR_variant,,ENST00000366790,;PARP1,5_prime_UTR_variant,,ENST00000366794,;PARP1,5_prime_UTR_variant,,ENST00000366791,;RP11-118H4.3,downstream_gene_variant,,ENST00000604335,;	143	105	151	SUCCESS
TRIM67	440730	.	GRCh37	1	231344856	231344857	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	237	71	213	0	ENST00000366653.5:c.1985dup	p.Asn662LysfsTer24	p.N662Kfs*24	ENST00000366653		661	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS44333.1	1983-1984	INDELOCATOR*|VARSCANI*|PINDEL	.	TACGACAACCA	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	.	ENSP00000355613	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	insertion	TRIM67,frameshift_variant,p.Asn660LysfsTer24,ENST00000444294,;TRIM67,frameshift_variant,p.Asn662LysfsTer24,ENST00000366652,;TRIM67,frameshift_variant,p.Asn600LysfsTer24,ENST00000449018,;TRIM67,frameshift_variant,p.Asn662LysfsTer24,ENST00000366653,;	1983-1984	213	308	SUCCESS
LYST	1130	.	GRCh37	1	235973623	235973623	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	78	0	ENST00000389793.2:c.495C>A	p.Thr165=	p.T165=	ENST00000389793	NM_000081.3	165	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31062.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGGTGGA	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	5/53	.	.	.	.	.	.	.	.	.	5/53	nonpreferredpair	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000536965,;LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	670	78	81	SUCCESS
RYR2	6262	.	GRCh37	1	237778097	237778097	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	27	149	0	ENST00000366574.2:c.5669A>C	p.Lys1890Thr	p.K1890T	ENST00000366574	NM_001035.2	1890	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS55691.1	5669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAAGGAAG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	37/105	.	.	.	.	.	.	.	.	.	37/105	nonpreferredpair	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Lys1874Thr,ENST00000542537,;RYR2,missense_variant,p.Lys1890Thr,ENST00000366574,;RYR2,missense_variant,p.Lys1888Thr,ENST00000360064,;	5986	149	138	SUCCESS
FGR	2268	.	GRCh37	1	27941376	27941376	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	16	225	0	ENST00000374003.3:c.1080G>T	p.Val360=	p.V360=	ENST00000374003	NM_001042729.1	360	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS305.1	1080	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCACCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF224,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000363117	.	10/13	.	.	.	.	.	.	.	.	.	10/13	nonpreferredpair	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,synonymous_variant,p.%3D,ENST00000545953,;FGR,synonymous_variant,p.%3D,ENST00000374004,;FGR,synonymous_variant,p.%3D,ENST00000399173,;FGR,synonymous_variant,p.%3D,ENST00000374003,;FGR,synonymous_variant,p.%3D,ENST00000374005,;FGR,downstream_gene_variant,,ENST00000457296,;	1369	225	128	SUCCESS
IPP	3652	.	GRCh37	1	46165836	46165836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	42	0	ENST00000396478.3:c.1557G>T	p.Met519Ile	p.M519I	ENST00000396478	NM_005897.2	519	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS30702.1	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCATTGA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF35,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0047741	.	.	ENSP00000379739	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000396478	Transcript	.	.	ENSG00000197429	6108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	IPP_HUMAN	IPP	HGNC	.	.	UPI000012D80B	SNV	IPP,missense_variant,p.Met519Ile,ENST00000396478,;IPP,missense_variant,p.Met519Ile,ENST00000359942,;RP11-767N6.7,upstream_gene_variant,,ENST00000430643,;IPP,non_coding_transcript_exon_variant,,ENST00000495072,;IPP,upstream_gene_variant,,ENST00000461718,;	1660	42	31	SUCCESS
CAMTA1	23261	.	GRCh37	1	7700465	7700465	+	synonymous_variant	Silent	SNP	C	C	T	rs775725704	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	128	0	ENST00000303635.7:c.516C>T	p.Pro172=	p.P172=	ENST00000303635	NM_015215.2	172	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS30576.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCCGACAT	NONE	byFrequency	.	PROSITE_profiles:PS51437,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Pfam_domain:PF03859,SMART_domains:SM01076	.	.	ENSP00000306522	.	7/23	.	.	.	.	.	.	.	.	rs775725704	7/23	nonpreferredpair	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,synonymous_variant,p.%3D,ENST00000303635,;CAMTA1,synonymous_variant,p.%3D,ENST00000439411,;	723	128	117	SUCCESS
SEC23B	10483	.	GRCh37	20	18505223	18505223	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	90	0	ENST00000262544.2:c.513G>C	p.Arg171Ser	p.R171S	ENST00000262544		171	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS13137.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGATGGT	NONE	.	.	hmmpanther:PTHR11141:SF3,hmmpanther:PTHR11141,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000338844	.	5/20	.	.	.	.	.	.	.	.	.	5/20	nonpreferredpair	ENST00000336714	Transcript	1	.	ENSG00000101310	10702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.22)	.	SC23B_HUMAN	SEC23B	HGNC	Q5QPE2_HUMAN,B4DS04_HUMAN	.	UPI0000135455	SNV	SEC23B,missense_variant,p.Arg171Ser,ENST00000377475,;SEC23B,missense_variant,p.Arg171Ser,ENST00000377465,;SEC23B,missense_variant,p.Arg171Ser,ENST00000336714,;SEC23B,missense_variant,p.Arg171Ser,ENST00000262544,;SEC23B,missense_variant,p.Arg171Ser,ENST00000450074,;	945	90	87	SUCCESS
PYGB	5834	.	GRCh37	20	25261588	25261588	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201813153	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	23	175	0	ENST00000216962.4:c.1243G>A	p.Val415Met	p.V415M	ENST00000216962	NM_002862.3	415	Gtg/Atg	0	.	A:0.0008	.	A:0	.	A	V/M	protein_coding	YES	CCDS13171.1	1243	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGTGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Gene3D:3.40.50.2000,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756	A:0	.	ENSP00000216962	A:0	11/20	.	.	.	.	.	.	.	.	rs201813153	11/20	nonpreferredpair	ENST00000216962	Transcript	.	A:0.0002	ENSG00000100994	9723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	A:0	deleterious(0.01)	.	PYGB_HUMAN	PYGB	HGNC	Q8TDG6_HUMAN	.	UPI0000131A0A	SNV	PYGB,missense_variant,p.Val415Met,ENST00000216962,;	1353	175	160	SUCCESS
CPNE1	8904	.	GRCh37	20	34220601	34220601	+	synonymous_variant	Silent	SNP	C	C	A	rs775467873	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	163	0	ENST00000352393.4:c.147G>T	p.Arg49=	p.R49=	ENST00000352393		49	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46595.1	162	MUTECT|MUSE|VARSCANS	.	CGCACCCGTTC	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10857:SF2,hmmpanther:PTHR10857	.	.	ENSP00000317257	.	3/16	.	.	.	.	.	.	.	.	rs775467873	3/16	nonpreferredpair	ENST00000317677	Transcript	.	.	ENSG00000214078	2314	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CPNE1	HGNC	Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN,B0QZ18_HUMAN	.	UPI0000D4B36B	SNV	CPNE1,synonymous_variant,p.%3D,ENST00000317677,;CPNE1,synonymous_variant,p.%3D,ENST00000440240,;CPNE1,synonymous_variant,p.%3D,ENST00000397442,;CPNE1,synonymous_variant,p.%3D,ENST00000412056,;CPNE1,synonymous_variant,p.%3D,ENST00000317619,;CPNE1,synonymous_variant,p.%3D,ENST00000416778,;CPNE1,synonymous_variant,p.%3D,ENST00000430570,;CPNE1,synonymous_variant,p.%3D,ENST00000352393,;CPNE1,synonymous_variant,p.%3D,ENST00000414711,;CPNE1,synonymous_variant,p.%3D,ENST00000435747,;CPNE1,synonymous_variant,p.%3D,ENST00000458038,;CPNE1,synonymous_variant,p.%3D,ENST00000397443,;CPNE1,synonymous_variant,p.%3D,ENST00000420363,;CPNE1,synonymous_variant,p.%3D,ENST00000434795,;CPNE1,synonymous_variant,p.%3D,ENST00000439806,;CPNE1,synonymous_variant,p.%3D,ENST00000397445,;CPNE1,synonymous_variant,p.%3D,ENST00000437340,;CPNE1,synonymous_variant,p.%3D,ENST00000414664,;CPNE1,synonymous_variant,p.%3D,ENST00000397446,;CPNE1,synonymous_variant,p.%3D,ENST00000437100,;CPNE1,upstream_gene_variant,,ENST00000415920,;CPNE1,synonymous_variant,p.%3D,ENST00000439669,;CPNE1,synonymous_variant,p.%3D,ENST00000401607,;RP1-309K20.6,3_prime_UTR_variant,,ENST00000541176,;RP1-309K20.6,3_prime_UTR_variant,,ENST00000454607,;RP1-309K20.6,3_prime_UTR_variant,,ENST00000441563,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,upstream_gene_variant,,ENST00000486021,;CPNE1,upstream_gene_variant,,ENST00000483495,;	297	163	104	SUCCESS
ATP9A	10079	.	GRCh37	20	50287714	50287714	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756587295	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	111	0	ENST00000338821.5:c.1120C>T	p.Arg374Cys	p.R374C	ENST00000338821	NM_006045.1	374	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS33489.1	1120	MUTECT|MUSE	.	GGAGCGAACCA	NONE	byFrequency	.	hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473	.	.	ENSP00000342481	.	12/28	.	.	.	.	.	.	.	.	rs756587295,COSM3547752	12/28	nonpreferredpair	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,1	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,missense_variant,p.Arg374Cys,ENST00000338821,;ATP9A,missense_variant,p.Arg253Cys,ENST00000402822,;ATP9A,missense_variant,p.Arg238Cys,ENST00000311637,;	1385	111	88	SUCCESS
PHACTR3	116154	.	GRCh37	20	58322830	58322830	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	124	0	ENST00000371015.1:c.298G>T	p.Ala100Ser	p.A100S	ENST00000371015	NM_080672.4	100	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS13480.1	298	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCCGGC	NONE	.	.	SMART_domains:SM00707,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7,PROSITE_profiles:PS51073	.	.	ENSP00000360054	.	3/13	.	.	.	.	.	.	.	.	COSM3841396	3/13	nonpreferredpair	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.033)	.	tolerated(1)	1	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Ala59Ser,ENST00000541461,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000395636,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000395639,;PHACTR3,missense_variant,p.Ala97Ser,ENST00000359926,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000355648,;PHACTR3,missense_variant,p.Ala59Ser,ENST00000361300,;PHACTR3,missense_variant,p.Ala100Ser,ENST00000371015,;PHACTR3,downstream_gene_variant,,ENST00000434923,;	765	124	85	SUCCESS
CHRNA4	1137	.	GRCh37	20	61978125	61978125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	19	89	0	ENST00000370263.4:c.1849C>T	p.Leu617Phe	p.L617F	ENST00000370263	NM_000744.6	617	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS13517.1	1849	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGGCCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000359285	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,missense_variant,p.Leu617Phe,ENST00000370263,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;	2071	89	113	SUCCESS
USP16	10600	.	GRCh37	21	30419571	30419571	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748205755	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	80	0	ENST00000334352.4:c.1940G>T	p.Arg647Leu	p.R647L	ENST00000334352	NM_001032410.1	647	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS13583.1	1940	MUTECT|MUSE|VARSCANS	.	ACTTCGAGATG	NONE	byCluster	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF420,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000334808	.	15/19	.	.	.	.	.	.	.	.	rs748205755,COSM4101017,COSM4101018	15/19	nonpreferredpair	ENST00000334352	Transcript	.	.	ENSG00000156256	12614	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.664)	.	deleterious(0.04)	0,1,1	UBP16_HUMAN	USP16	HGNC	H9KVB6_HUMAN	.	UPI00001379FA	SNV	USP16,missense_variant,p.Arg276Leu,ENST00000535828,;USP16,missense_variant,p.Arg647Leu,ENST00000334352,;USP16,missense_variant,p.Arg647Leu,ENST00000399976,;USP16,missense_variant,p.Arg646Leu,ENST00000399975,;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;USP16,upstream_gene_variant,,ENST00000485067,;	2171	81	60	SUCCESS
RSPH1	89765	.	GRCh37	21	43896039	43896039	+	synonymous_variant	Silent	SNP	G	G	A	rs781222867	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	116	0	ENST00000291536.3:c.846C>T	p.Asp282=	p.D282=	ENST00000291536	NM_080860.2	282	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS13688.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTCATA	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF130	.	.	ENSP00000291536	.	8/9	.	.	.	.	.	.	.	.	rs781222867	8/9	nonpreferredpair	ENST00000291536	Transcript	.	.	ENSG00000160188	12371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSPH1_HUMAN	RSPH1	HGNC	.	.	UPI000004FA34	SNV	RSPH1,synonymous_variant,p.%3D,ENST00000398352,;RSPH1,synonymous_variant,p.%3D,ENST00000291536,;RSPH1,non_coding_transcript_exon_variant,,ENST00000493019,;	1014	116	91	SUCCESS
THAP7	80764	.	GRCh37	22	21354333	21354333	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756191065	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	21	129	0	ENST00000215742.4:c.766C>T	p.Arg256Cys	p.R256C	ENST00000215742	NM_030573.2	256	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13787.1	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCTGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23080:SF14,hmmpanther:PTHR23080	.	.	ENSP00000215742	.	4/4	.	.	.	.	.	.	.	.	rs756191065	4/4	nonpreferredpair	ENST00000215742	Transcript	.	.	ENSG00000184436	23190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	THAP7_HUMAN	THAP7	HGNC	.	.	UPI00001AE5D8	SNV	THAP7,missense_variant,p.Arg256Cys,ENST00000399133,;THAP7,missense_variant,p.Arg256Cys,ENST00000215742,;AC002472.1,downstream_gene_variant,,ENST00000547793,;LZTR1,downstream_gene_variant,,ENST00000215739,;LZTR1,downstream_gene_variant,,ENST00000415817,;LZTR1,downstream_gene_variant,,ENST00000389355,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;LZTR1,downstream_gene_variant,,ENST00000479606,;THAP7,non_coding_transcript_exon_variant,,ENST00000498406,;THAP7,non_coding_transcript_exon_variant,,ENST00000476667,;THAP7,non_coding_transcript_exon_variant,,ENST00000471073,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000498649,;THAP7,downstream_gene_variant,,ENST00000488975,;THAP7,downstream_gene_variant,,ENST00000471723,;LZTR1,downstream_gene_variant,,ENST00000491432,;LZTR1,downstream_gene_variant,,ENST00000463909,;LZTR1,downstream_gene_variant,,ENST00000439171,;LZTR1,downstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000415354,;TUBA3FP,downstream_gene_variant,,ENST00000442739,;	941	129	110	SUCCESS
TTC28	23331	.	GRCh37	22	28494971	28494971	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766762462	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	190	21	218	0	ENST00000397906.2:c.3479A>G	p.Tyr1160Cys	p.Y1160C	ENST00000397906	NM_001145418.1	1160	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46678.1	3479	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGTAGTCC	NONE	.	.	hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106	.	.	ENSP00000381003	.	10/23	.	.	.	.	.	.	.	.	rs766762462	10/23	nonpreferredpair	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.076)	.	tolerated(0.05)	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	SNV	TTC28,missense_variant,p.Tyr1160Cys,ENST00000397906,;TTC28,upstream_gene_variant,,ENST00000442232,;	3621	218	211	SUCCESS
H1F0	0	.	GRCh37	22	38201683	38201684	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	102	10	121	0	ENST00000340857.2:c.133dup	p.Ser45PhefsTer18	p.S45Ffs*18	ENST00000340857	NM_005318.3	44	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13956.1	132-133	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGCTCCTC	NONE	.	.	Prints_domain:PR00624,Superfamily_domains:SSF46785,SMART_domains:SM00526,Pfam_domain:PF00538,Gene3D:1.10.10.10,hmmpanther:PTHR11467:SF10,hmmpanther:PTHR11467,PROSITE_profiles:PS51504	.	.	ENSP00000344504	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000340857	Transcript	.	.	ENSG00000189060	4714	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H10_HUMAN	H1F0	HGNC	.	.	UPI0000161F7B	insertion	H1F0,frameshift_variant,p.Ser45PhefsTer18,ENST00000340857,;GCAT,upstream_gene_variant,,ENST00000451984,;GCAT,upstream_gene_variant,,ENST00000445195,;GCAT,upstream_gene_variant,,ENST00000248924,;GCAT,upstream_gene_variant,,ENST00000323205,;GCAT,upstream_gene_variant,,ENST00000415371,;GCAT,upstream_gene_variant,,ENST00000426858,;GCAT,upstream_gene_variant,,ENST00000478203,;	570-571	121	112	SUCCESS
MPPED1	758	.	GRCh37	22	43870736	43870736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	28	158	0	ENST00000417669.2:c.527T>A	p.Leu176Gln	p.L176Q	ENST00000417669		176	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46723.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTGAAGC	NONE	.	.	hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,Superfamily_domains:SSF56300	.	.	ENSP00000388137	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000417669	Transcript	.	.	ENSG00000186732	1306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	tolerated(0.08)	.	MPPD1_HUMAN	MPPED1	HGNC	Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN	.	UPI000006DF41	SNV	MPPED1,missense_variant,p.Leu18Gln,ENST00000439548,;MPPED1,missense_variant,p.Leu176Gln,ENST00000542779,;MPPED1,missense_variant,p.Leu176Gln,ENST00000443721,;MPPED1,missense_variant,p.Leu209Gln,ENST00000538182,;MPPED1,missense_variant,p.Leu176Gln,ENST00000417669,;MPPED1,missense_variant,p.Leu70Gln,ENST00000414469,;	971	158	158	SUCCESS
GRHL1	29841	.	GRCh37	2	10095217	10095217	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1198161783	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	126	0	ENST00000324907.9:c.194A>G	p.Tyr65Cys	p.Y65C	ENST00000324907	NM_198182.2	65	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33144.2	194	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTATGACT	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF16	.	.	ENSP00000324693	.	2/16	.	.	.	.	.	.	.	.	.	2/16	nonpreferredpair	ENST00000324907	Transcript	.	.	ENSG00000134317	17923	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	GRHL1_HUMAN	GRHL1	HGNC	F8WFB0_HUMAN,C9JYY8_HUMAN	.	UPI00001E0586	SNV	GRHL1,missense_variant,p.Tyr65Cys,ENST00000405379,;GRHL1,missense_variant,p.Tyr65Cys,ENST00000324907,;GRHL1,5_prime_UTR_variant,,ENST00000324883,;GRHL1,missense_variant,p.Tyr65Cys,ENST00000472167,;GRHL1,missense_variant,p.Tyr65Cys,ENST00000439493,;GRHL1,missense_variant,p.Tyr68Cys,ENST00000464418,;GRHL1,non_coding_transcript_exon_variant,,ENST00000497403,;	330	126	94	SUCCESS
RGPD3	653489	.	GRCh37	2	107041399	107041399	+	synonymous_variant	Silent	SNP	G	G	A	rs745865184	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	115	0	ENST00000409886.3:c.3024C>T	p.Tyr1008=	p.Y1008=	ENST00000409886	NM_001144013.1	1008	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS46379.1	3024	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGTATTG	NONE	byFrequency	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386588	.	20/23	.	.	.	.	.	.	.	.	rs745865184	20/23	nonpreferredpair	ENST00000409886	Transcript	.	.	ENSG00000153165	32416	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGPD3_HUMAN	RGPD3	HGNC	I1Z9D1_HUMAN	.	UPI00006C049F	SNV	RGPD3,synonymous_variant,p.%3D,ENST00000409886,;RGPD3,synonymous_variant,p.%3D,ENST00000304514,;	3112	115	73	SUCCESS
GLI2	2736	.	GRCh37	2	121554929	121554929	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764422727	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	78	0	ENST00000361492.4:c.33G>T	p.Glu11Asp	p.E11D	ENST00000361492	NM_005270.4	11	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS33283.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGAAGCA	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	2/14	.	.	.	.	.	.	.	.	rs764422727,COSM161276	2/14	nonpreferredpair	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.007)	.	tolerated_low_confidence(0.22)	0,1	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Glu11Asp,ENST00000452319,;GLI2,missense_variant,p.Glu11Asp,ENST00000418323,;GLI2,missense_variant,p.Glu3Asp,ENST00000360874,;GLI2,missense_variant,p.Glu11Asp,ENST00000361492,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000482119,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,missense_variant,p.Glu11Asp,ENST00000438299,;GLI2,missense_variant,p.Glu11Asp,ENST00000341310,;GLI2,missense_variant,p.Glu11Asp,ENST00000452692,;GLI2,missense_variant,p.Glu3Asp,ENST00000433812,;GLI2,missense_variant,p.Glu11Asp,ENST00000437950,;GLI2,missense_variant,p.Glu11Asp,ENST00000445186,;GLI2,non_coding_transcript_exon_variant,,ENST00000472722,;	93	78	62	SUCCESS
BAZ2B	29994	.	GRCh37	2	160242941	160242941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	89	0	ENST00000392783.2:c.3394A>T	p.Met1132Leu	p.M1132L	ENST00000392783	NM_013450.2	1132	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS2209.2	3394	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCATGCTGT	NONE	.	.	SMART_domains:SM00571,Pfam_domain:PF02791,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,PROSITE_profiles:PS50827	.	.	ENSP00000376534	.	22/37	.	.	.	.	.	.	.	.	.	22/37	nonpreferredpair	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.681)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Met193Leu,ENST00000294905,;BAZ2B,missense_variant,p.Met1032Leu,ENST00000343439,;BAZ2B,missense_variant,p.Met1096Leu,ENST00000392782,;BAZ2B,missense_variant,p.Met1098Leu,ENST00000355831,;BAZ2B,missense_variant,p.Met1132Leu,ENST00000392783,;AC008277.1,non_coding_transcript_exon_variant,,ENST00000420020,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000551504,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000485917,;	3890	89	53	SUCCESS
HOXD9	3235	.	GRCh37	2	176988265	176988265	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	91	0	ENST00000249499.6:c.769G>C	p.Glu257Gln	p.E257Q	ENST00000249499	NM_014213.3	257	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS2267.2	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGAGGAG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF113,PIRSF_domain:PIRSF037109	.	.	ENSP00000249499	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000249499	Transcript	.	.	ENSG00000128709	5140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	deleterious(0.02)	.	HXD9_HUMAN	HOXD9	HGNC	.	.	UPI000004A10E	SNV	HOXD9,missense_variant,p.Glu257Gln,ENST00000249499,;HOXD10,downstream_gene_variant,,ENST00000249501,;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000549469,;HOXD10,downstream_gene_variant,,ENST00000490088,;	1178	91	64	SUCCESS
FSIP2	401024	.	GRCh37	2	186673299	186673299	+	synonymous_variant	Silent	SNP	C	C	T	rs751674952	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	134	0	ENST00000424728.1:c.19266C>T	p.Val6422=	p.V6422=	ENST00000424728		6422	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54426.1	19533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCGATTC	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	rs751674952	17/23	nonpreferredpair	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,synonymous_variant,p.%3D,ENST00000343098,;FSIP2,synonymous_variant,p.%3D,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	19533	134	90	SUCCESS
ITGAV	3685	.	GRCh37	2	187465066	187465066	+	intron_variant	Intron	SNP	T	T	C	rs1474653204	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	76	0	ENST00000261023.3:c.186-1682T>C		p.*62*	ENST00000261023	NM_002210.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2292.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTCCTAG	NONE	.	.	.	.	.	ENSP00000261023	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000261023	Transcript	.	.	ENSG00000138448	6150	.	.	MODIFIER	1/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITAV_HUMAN	ITGAV	HGNC	L7RXH0_HUMAN	.	UPI000013D12E	SNV	ITGAV,missense_variant,p.Leu2Pro,ENST00000433736,;ITGAV,intron_variant,,ENST00000374907,;ITGAV,intron_variant,,ENST00000261023,;	.	76	41	SUCCESS
COL4A4	1286	.	GRCh37	2	227906897	227906897	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	77	0	ENST00000396625.3:c.3472G>T	p.Asp1158Tyr	p.D1158Y	ENST00000396625	NM_000092.4	1158	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42828.1	3472	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCCCCCT	NONE	.	.	hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000379866	.	37/48	.	.	.	.	.	.	.	.	COSM3047036	37/48	nonpreferredpair	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	.	1	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Asp1158Tyr,ENST00000329662,;COL4A4,missense_variant,p.Asp1158Tyr,ENST00000396625,;	3680	77	37	SUCCESS
DQX1	165545	.	GRCh37	2	74745708	74745708	+	synonymous_variant	Silent	SNP	T	T	A	rs779985546	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	23	179	0	ENST00000393951.2:c.2019A>T	p.Pro673=	p.P673=	ENST00000393951		673	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1949.2	2019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATGGAGG	NONE	.	.	Pfam_domain:PF07717,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934	.	.	ENSP00000384621	.	12/12	.	.	.	.	.	.	.	.	rs779985546	12/12	nonpreferredpair	ENST00000404568	Transcript	.	.	ENSG00000144045	20410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DQX1_HUMAN	DQX1	HGNC	C9J0W1_HUMAN	.	UPI0000208758	SNV	DQX1,synonymous_variant,p.%3D,ENST00000404568,;DQX1,synonymous_variant,p.%3D,ENST00000393951,;TLX2,downstream_gene_variant,,ENST00000233638,;DQX1,downstream_gene_variant,,ENST00000495597,;TLX2,downstream_gene_variant,,ENST00000497238,;DQX1,3_prime_UTR_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;DQX1,downstream_gene_variant,,ENST00000473508,;	2239	179	131	SUCCESS
IGKV1D-43	28891	.	GRCh37	2	90249250	90249250	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	138	0	ENST00000468879.1:c.206T>C	p.Phe69Ser	p.F69S	ENST00000468879		69	tTc/tCc	0	.	.	.	.	.	C	F/S	IG_V_gene	YES	.	206	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCATCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000417961	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000468879	Transcript	.	.	ENSG00000242580	5758	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.089)	.	deleterious(0)	.	.	IGKV1D-43	HGNC	.	.	UPI0000116191	SNV	IGKV1D-43,missense_variant,p.Phe69Ser,ENST00000468879,;	387	138	99	SUCCESS
LMAN2L	81562	.	GRCh37	2	97405772	97405772	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	26	0	ENST00000264963.4:c.6G>A	p.Ala2=	p.A2=	ENST00000264963	NM_030805.3	2	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46365.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCCGCCAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF20	.	.	ENSP00000366280	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000377079	Transcript	.	.	ENSG00000114988	19263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMA2L_HUMAN	LMAN2L	HGNC	B4DI83_HUMAN	.	UPI000044099B	SNV	LMAN2L,synonymous_variant,p.%3D,ENST00000377079,;LMAN2L,synonymous_variant,p.%3D,ENST00000264963,;LMAN2L,5_prime_UTR_variant,,ENST00000534882,;LMAN2L,5_prime_UTR_variant,,ENST00000426463,;LMAN2L,5_prime_UTR_variant,,ENST00000537039,;LMAN2L,synonymous_variant,p.%3D,ENST00000434524,;LMAN2L,synonymous_variant,p.%3D,ENST00000434865,;LMAN2L,synonymous_variant,p.%3D,ENST00000440610,;LMAN2L,synonymous_variant,p.%3D,ENST00000446780,;LMAN2L,synonymous_variant,p.%3D,ENST00000449221,;	30	26	32	SUCCESS
FBLN2	2199	.	GRCh37	3	13612210	13612210	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	108	0	ENST00000295760.7:c.355C>T	p.Pro119Ser	p.P119S	ENST00000295760	NM_001998.2	119	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46761.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGCCCAAC	NONE	.	.	.	.	.	ENSP00000384169	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.03)	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	SNV	FBLN2,missense_variant,p.Pro119Ser,ENST00000295760,;FBLN2,missense_variant,p.Pro119Ser,ENST00000492059,;FBLN2,missense_variant,p.Pro119Ser,ENST00000404922,;FBLN2,missense_variant,p.Pro119Ser,ENST00000465610,;FBLN2,missense_variant,p.Pro145Ser,ENST00000535798,;	474	108	98	SUCCESS
WDR49	151790	.	GRCh37	3	167272493	167272493	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	40	0	ENST00000308378.3:c.745del	p.Ile249TyrfsTer80	p.I249Yfs*80	ENST00000308378	NM_178824.3	249	Ata/ta	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS3201.1	745	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGTATTTTCT	NONE	.	.	Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,Low_complexity_(Seg):seg	.	.	ENSP00000311343	.	6/15	.	.	.	.	.	.	.	.	.	6/15	nonpreferredpair	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	deletion	WDR49,frameshift_variant,p.Ile314TyrfsTer17,ENST00000472600,;WDR49,frameshift_variant,p.Ile302TyrfsTer17,ENST00000453925,;WDR49,frameshift_variant,p.Ile74TyrfsTer80,ENST00000476376,;WDR49,frameshift_variant,p.Ile249TyrfsTer80,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;WDR49,downstream_gene_variant,,ENST00000466760,;WDR49,intron_variant,,ENST00000460448,;	1051	40	29	SUCCESS
ITIH4	3700	.	GRCh37	3	52864633	52864633	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	137	0	ENST00000266041.4:c.26C>T	p.Thr9Ile	p.T9I	ENST00000266041	NM_002218.4	9	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2865.1	26	RADIA|MUTECT|MUSE	.	TGCAGGTACGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000266041	.	1/24	.	.	.	.	.	.	.	.	.	1/24	nonpreferredpair	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.1)	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,missense_variant,p.Thr9Ile,ENST00000346281,;ITIH4,missense_variant,p.Thr9Ile,ENST00000266041,;ITIH4,missense_variant,p.Thr9Ile,ENST00000485816,;ITIH4,missense_variant,p.Thr9Ile,ENST00000406595,;ITIH4,5_prime_UTR_variant,,ENST00000434759,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000514466,;MUSTN1,downstream_gene_variant,,ENST00000486659,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000504329,;ITIH4,upstream_gene_variant,,ENST00000441637,;MUSTN1,downstream_gene_variant,,ENST00000446157,;RP5-966M1.6,non_coding_transcript_exon_variant,,ENST00000513520,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,non_coding_transcript_exon_variant,,ENST00000473904,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000495552,;	123	137	120	SUCCESS
C3orf67	0	.	GRCh37	3	58849427	58849427	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1576004590	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	98	0	ENST00000295966.7:c.1075C>T	p.Pro359Ser	p.P359S	ENST00000295966	NM_198463.2	359	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33776.1	1075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGGTCTTG	BUFFER|p.R360Q|c.1079G>A|3	.	.	hmmpanther:PTHR12458:SF7,hmmpanther:PTHR12458	.	.	ENSP00000295966	.	12/16	.	.	.	.	.	.	.	.	.	12/16	nonpreferredpair	ENST00000295966	Transcript	.	.	ENSG00000163689	24763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CC067_HUMAN	C3orf67	HGNC	.	.	UPI00001C098C	SNV	C3orf67,missense_variant,p.Pro266Ser,ENST00000472469,;C3orf67,missense_variant,p.Pro359Ser,ENST00000482387,;C3orf67,missense_variant,p.Pro359Ser,ENST00000295966,;RP11-147N17.1,intron_variant,,ENST00000493123,;RP11-147N17.1,intron_variant,,ENST00000463703,;RP11-147N17.1,intron_variant,,ENST00000492031,;RP11-147N17.1,intron_variant,,ENST00000482372,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;	1579	98	71	SUCCESS
OR5H14	403273	.	GRCh37	3	97868812	97868812	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	74	0	ENST00000437310.1:c.583A>T	p.Asn195Tyr	p.N195Y	ENST00000437310	NM_001005514.1	195	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS33798.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTAACTTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.746)	.	deleterious(0)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Asn195Tyr,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	643	74	48	SUCCESS
TRPC3	7222	.	GRCh37	4	122853884	122853884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	25	124	0	ENST00000379645.3:c.529G>A	p.Asp177Asn	p.D177N	ENST00000379645	NM_001130698.1	177	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47130.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTCGCCAA	BUFFER|p.R101C|c.301C>T|5	.	.	hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,Gene3D:1.25.40.20,Pfam_domain:PF12796,TIGRFAM_domain:TIGR00870,Superfamily_domains:SSF48403	.	.	ENSP00000368966	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000379645	Transcript	.	.	ENSG00000138741	12335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated(0.16)	.	TRPC3_HUMAN	TRPC3	HGNC	Q4W5P7_HUMAN,D6R902_HUMAN	.	UPI00004C6F61	SNV	TRPC3,missense_variant,p.Asp104Asn,ENST00000264811,;TRPC3,missense_variant,p.Asp104Asn,ENST00000513531,;TRPC3,missense_variant,p.Asp177Asn,ENST00000379645,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,missense_variant,p.Asp104Asn,ENST00000506449,;	603	124	124	SUCCESS
FAM160A1	0	.	GRCh37	4	152507926	152507926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	104	0	ENST00000435205.1:c.866T>C	p.Leu289Pro	p.L289P	ENST00000435205	NM_001109977.1	289	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47146.1	866	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTGGAGT	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705,Pfam_domain:PF10257	.	.	ENSP00000413196	.	6/14	.	.	.	.	.	.	.	.	.	6/14	nonpreferredpair	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Leu289Pro,ENST00000435205,;FAM160A1,missense_variant,p.Leu289Pro,ENST00000505231,;	1441	104	70	SUCCESS
KLHL2	11275	.	GRCh37	4	166149976	166149976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	22	360	0	ENST00000226725.6:c.170A>T	p.Asp57Val	p.D57V	ENST00000226725	NM_007246.3	57	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS54815.1	182	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGATGTCA	NONE	.	.	Superfamily_domains:SSF54695,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412,PROSITE_profiles:PS50097	.	.	ENSP00000424198	.	3/15	.	.	.	.	.	.	.	.	.	3/15	nonpreferredpair	ENST00000514860	Transcript	.	.	ENSG00000109466	6353	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,start_lost,p.Met1?,ENST00000421009,;KLHL2,missense_variant,p.Asp61Val,ENST00000514860,;KLHL2,missense_variant,p.Asp57Val,ENST00000226725,;KLHL2,missense_variant,p.Asp19Val,ENST00000509704,;KLHL2,missense_variant,p.Asp97Val,ENST00000511305,;KLHL2,intron_variant,,ENST00000538127,;KLHL2,intron_variant,,ENST00000506824,;	432	360	230	SUCCESS
PDLIM3	27295	.	GRCh37	4	186446243	186446247	+	frameshift_variant	Frame_Shift_Del	DEL	GACTC	GACTC	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	GACTC	GACTC	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	86	0	ENST00000284770.5:c.172_176del	p.Glu58HisfsTer5	p.E58Hfs*5	ENST00000284770	NM_014476.5	58	GAGTCc/c	0	.	.	.	.	.	-	ES/X	protein_coding	YES	CCDS3844.1	172-176	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCATGGACTCTGTCC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24214:SF7,hmmpanther:PTHR24214,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000284770	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000284770	Transcript	.	.	ENSG00000154553	20767	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDLI3_HUMAN	PDLIM3	HGNC	.	.	UPI000013DDB6	deletion	PDLIM3,frameshift_variant,p.Glu58HisfsTer5,ENST00000284770,;PDLIM3,frameshift_variant,p.Glu58HisfsTer5,ENST00000284771,;PDLIM3,frameshift_variant,p.Glu58HisfsTer5,ENST00000284767,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000512380,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000515261,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000504355,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000504011,;PDLIM3,intron_variant,,ENST00000505886,;PDLIM3,intron_variant,,ENST00000512293,;	246-250	86	70	SUCCESS
ZFP42	132625	.	GRCh37	4	188924467	188924467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	27	0	ENST00000326866.4:c.506C>A	p.Ala169Glu	p.A169E	ENST00000326866	NM_174900.3	169	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS3849.1	506	RADIA|MUTECT|MUSE	.	GCTCGCAGAAT	NONE	.	.	hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.441)	.	deleterious(0)	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,missense_variant,p.Ala169Glu,ENST00000326866,;ZFP42,missense_variant,p.Ala169Glu,ENST00000509524,;	914	27	18	SUCCESS
GUF1	60558	.	GRCh37	4	44682735	44682735	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	162	0	ENST00000281543.5:c.302A>G	p.Asn101Ser	p.N101S	ENST00000281543	NM_021927.2	101	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3468.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAATAAGC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00009,TIGRFAM_domain:TIGR00231,TIGRFAM_domain:TIGR01393,Gene3D:3.40.50.300,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF97,HAMAP:MF_00071	.	.	ENSP00000281543	.	3/17	.	.	.	.	.	.	.	.	.	3/17	nonpreferredpair	ENST00000281543	Transcript	.	.	ENSG00000151806	25799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.2)	.	GUF1_HUMAN	GUF1	HGNC	.	.	UPI000006FFEC	SNV	GUF1,missense_variant,p.Asn101Ser,ENST00000281543,;YIPF7,upstream_gene_variant,,ENST00000508947,;GNPDA2,downstream_gene_variant,,ENST00000609092,;GNPDA2,downstream_gene_variant,,ENST00000608855,;GUF1,non_coding_transcript_exon_variant,,ENST00000506793,;GUF1,missense_variant,p.Ile64Val,ENST00000513775,;	496	162	81	SUCCESS
AFAP1	60312	.	GRCh37	4	7787959	7787959	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	99	0	ENST00000358461.2:c.1492G>A	p.Ala498Thr	p.A498T	ENST00000358461	NM_198595.2	498	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47010.1	1492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGCCGTCC	NONE	.	.	hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8	.	.	ENSP00000410689	.	12/18	.	.	.	.	.	.	.	.	.	12/18	nonpreferredpair	ENST00000420658	Transcript	.	.	ENSG00000196526	24017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated(0.19)	.	AFAP1_HUMAN	AFAP1	HGNC	.	.	UPI000048041E	SNV	AFAP1,missense_variant,p.Ala498Thr,ENST00000382543,;AFAP1,missense_variant,p.Ala498Thr,ENST00000420658,;AFAP1,missense_variant,p.Ala498Thr,ENST00000360265,;AFAP1,missense_variant,p.Ala498Thr,ENST00000358461,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513842,;AFAP1,downstream_gene_variant,,ENST00000508415,;	1765	99	89	SUCCESS
PCDHA3	56145	.	GRCh37	5	140182464	140182464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	13	185	0	ENST00000522353.2:c.1682A>G	p.Asn561Ser	p.N561S	ENST00000522353	NM_018906.2	561	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS54915.1	1682	RADIA|MUTECT|MUSE|VARSCANS	.	CGACAACGCGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,missense_variant,p.Asn561Ser,ENST00000532566,;PCDHA3,missense_variant,p.Asn561Ser,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA4,upstream_gene_variant,,ENST00000530339,;PCDHA4,upstream_gene_variant,,ENST00000356878,;PCDHA4,upstream_gene_variant,,ENST00000512229,;	1682	185	120	SUCCESS
SPEF2	79925	.	GRCh37	5	35704679	35704679	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	72	0	ENST00000356031.3:c.2422G>A	p.Ala808Thr	p.A808T	ENST00000356031	NM_024867.3	808	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43309.1	2422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTGCTCAC	NONE	.	.	hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000348314	.	17/37	.	.	.	.	.	.	.	.	.	17/37	nonpreferredpair	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.63)	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,missense_variant,p.Ala803Thr,ENST00000440995,;SPEF2,missense_variant,p.Ala314Thr,ENST00000504054,;SPEF2,missense_variant,p.Ala803Thr,ENST00000509059,;SPEF2,missense_variant,p.Ala808Thr,ENST00000356031,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,synonymous_variant,p.%3D,ENST00000508817,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;	2576	72	36	SUCCESS
FYN	2534	.	GRCh37	6	112035597	112035597	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	69	0	ENST00000368678.4:c.297T>C	p.Asp99=	p.D99=	ENST00000368678		99	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS5094.1	297	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCATCTTC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF44,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000346671	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000354650	Transcript	.	.	ENSG00000010810	4037	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FYN_HUMAN	FYN	HGNC	E5RK23_HUMAN,E5RJX7_HUMAN,E5RIX5_HUMAN,E5RI25_HUMAN,E5RHX7_HUMAN,E5RHF7_HUMAN,E5RH71_HUMAN,E5RGT0_HUMAN,E5RGM6_HUMAN,E5RFS5_HUMAN,E5RFM6_HUMAN,E5RFM4_HUMAN,E5RFM0_HUMAN	.	UPI0000141141	SNV	FYN,splice_donor_variant,,ENST00000229470,;FYN,synonymous_variant,p.%3D,ENST00000368667,;FYN,synonymous_variant,p.%3D,ENST00000229471,;FYN,synonymous_variant,p.%3D,ENST00000368682,;FYN,synonymous_variant,p.%3D,ENST00000518630,;FYN,synonymous_variant,p.%3D,ENST00000538466,;FYN,synonymous_variant,p.%3D,ENST00000462856,;FYN,synonymous_variant,p.%3D,ENST00000524310,;FYN,synonymous_variant,p.%3D,ENST00000354650,;FYN,synonymous_variant,p.%3D,ENST00000484067,;FYN,synonymous_variant,p.%3D,ENST00000523570,;FYN,synonymous_variant,p.%3D,ENST00000368678,;FYN,synonymous_variant,p.%3D,ENST00000523574,;FYN,synonymous_variant,p.%3D,ENST00000520518,;FYN,synonymous_variant,p.%3D,ENST00000517419,;FYN,synonymous_variant,p.%3D,ENST00000518295,;FYN,synonymous_variant,p.%3D,ENST00000523238,;FYN,synonymous_variant,p.%3D,ENST00000521062,;FYN,synonymous_variant,p.%3D,ENST00000356013,;FYN,downstream_gene_variant,,ENST00000462598,;FYN,non_coding_transcript_exon_variant,,ENST00000523322,;FYN,non_coding_transcript_exon_variant,,ENST00000496864,;	904	69	34	SUCCESS
TUBE1	51175	.	GRCh37	6	112408474	112408489	+	protein_altering_variant	In_Frame_Del	DEL	AGAAGCAGCAGCCGAT	AGAAGCAGCAGCCGAT	CGAA	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	AGAAGCAGCAGCCGAT	AGAAGCAGCAGCCGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	225	33	268	0	ENST00000368662.5:c.46_61delinsTTCG	p.Ile16_Trp21delinsPheGly	p.I16_W21delinsFG	ENST00000368662	NM_016262.4	16	ATCGGCTGCTGCTTCTgg/TTCGgg	0	.	.	.	.	.	CGAA	IGCCFW/FG	protein_coding	YES	CCDS5100.1	46-61	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCCCAGAAGCAGCAGCCGATCTGGT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF13,Pfam_domain:PF00091,Gene3D:3.40.50.1440,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000357651	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000368662	Transcript	.	.	ENSG00000074935	20775	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBE_HUMAN	TUBE1	HGNC	.	.	UPI0000136A4E	substitution	TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000368662,;FAM229B,upstream_gene_variant,,ENST00000604268,;FAM229B,upstream_gene_variant,,ENST00000368656,;TUBE1,upstream_gene_variant,,ENST00000441191,;TUBE1,upstream_gene_variant,,ENST00000604814,;TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000604743,;TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000604967,;TUBE1,protein_altering_variant,p.Ile16_Trp21delinsPheGly,ENST00000605457,;TUBE1,non_coding_transcript_exon_variant,,ENST00000368657,;TUBE1,non_coding_transcript_exon_variant,,ENST00000603722,;TUBE1,non_coding_transcript_exon_variant,,ENST00000603621,;	125-140	268	258	SUCCESS
LAMA4	3910	.	GRCh37	6	112435307	112435307	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782446664	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	75	0	ENST00000230538.7:c.5298G>C	p.Arg1766Ser	p.R1766S	ENST00000230538	NM_001105206.2	1766	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS43491.1	5298	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCCTGTG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF174,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000230538	.	38/39	.	.	.	.	.	.	.	.	rs782446664	38/39	nonpreferredpair	ENST00000230538	Transcript	.	.	ENSG00000112769	6484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.192)	.	tolerated(0.07)	.	LAMA4_HUMAN	LAMA4	HGNC	E5RK79_HUMAN,E5RHF3_HUMAN,E5RFQ2_HUMAN,E5RFD7_HUMAN	.	UPI000013C937	SNV	LAMA4,missense_variant,p.Arg1766Ser,ENST00000230538,;LAMA4,missense_variant,p.Arg1759Ser,ENST00000424408,;LAMA4,missense_variant,p.Arg1759Ser,ENST00000522006,;LAMA4,missense_variant,p.Arg1759Ser,ENST00000389463,;	5696	75	47	SUCCESS
GABBR1	2550	.	GRCh37	6	29580368	29580368	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759815319	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	48	0	ENST00000377034.4:c.1590C>A	p.Ser530Arg	p.S530R	ENST00000377034	NM_001470.2	530	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS4663.1	1590	MUTECT|MUSE|VARSCANS	.	GAGCCGCTGGC	NONE	.	.	hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000366233	.	13/23	.	.	.	.	.	.	.	.	rs759815319	13/23	nonpreferredpair	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.836)	.	deleterious(0.04)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Ser468Arg,ENST00000377016,;GABBR1,missense_variant,p.Ser530Arg,ENST00000376977,;GABBR1,missense_variant,p.Ser413Arg,ENST00000355973,;GABBR1,missense_variant,p.Ser413Arg,ENST00000377012,;GABBR1,missense_variant,p.Ser530Arg,ENST00000377034,;GABBR1,missense_variant,p.Ser530Arg,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000489839,;GABBR1,downstream_gene_variant,,ENST00000494634,;GABBR1,upstream_gene_variant,,ENST00000473774,;	1926	48	48	SUCCESS
EPHA1	2041	.	GRCh37	7	143096483	143096483	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	121	0	ENST00000275815.3:c.859A>T	p.Met287Leu	p.M287L	ENST00000275815	NM_005232.4	287	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS5884.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCATCCGGT	NONE	.	.	Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28	.	.	ENSP00000275815	.	5/18	.	.	.	.	.	.	.	.	.	5/18	nonpreferredpair	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.08)	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,missense_variant,p.Met287Leu,ENST00000275815,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;EPHA1,upstream_gene_variant,,ENST00000494989,;	946	121	128	SUCCESS
OR2A2	442361	.	GRCh37	7	143807041	143807041	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs201869620	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	18	132	0	ENST00000408979.2:c.366T>A	p.Tyr122Ter	p.Y122*	ENST00000408979	NM_001005480.2	122	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS43671.1	366	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTATGTGGC	NONE	by1000G	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26453:SF82,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000386209	.	1/1	.	.	.	.	.	.	.	.	rs201869620	1/1	nonpreferredpair	ENST00000408979	Transcript	.	.	ENSG00000221989	8230	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2A2_HUMAN	OR2A2	HGNC	.	.	UPI0000061E70	SNV	OR2A2,stop_gained,p.Tyr122Ter,ENST00000408979,;	435	132	142	SUCCESS
STK31	56164	.	GRCh37	7	23809272	23809272	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	64	0	ENST00000355870.3:c.1610C>T	p.Ser537Phe	p.S537F	ENST00000355870	NM_031414.4	537	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS5386.1	1610	MUTECT|MUSE	.	CCTATCTGTGG	NONE	.	.	hmmpanther:PTHR12302:SF0,hmmpanther:PTHR12302	.	.	ENSP00000348132	.	13/24	.	.	.	.	.	.	.	.	COSM3637544	13/24	nonpreferredpair	ENST00000355870	Transcript	.	.	ENSG00000196335	11407	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.775)	.	deleterious(0.03)	1	STK31_HUMAN	STK31	HGNC	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN	.	UPI0000167B73	SNV	STK31,missense_variant,p.Ser514Phe,ENST00000428484,;STK31,missense_variant,p.Ser514Phe,ENST00000354639,;STK31,missense_variant,p.Ser537Phe,ENST00000355870,;STK31,missense_variant,p.Ser537Phe,ENST00000433467,;STK31,non_coding_transcript_exon_variant,,ENST00000478321,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;	1729	64	22	SUCCESS
MPP6	0	.	GRCh37	7	24705233	24705233	+	synonymous_variant	Silent	SNP	C	C	T	rs201576683	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	99	0	ENST00000222644.5:c.810C>T	p.Ser270=	p.S270=	ENST00000222644		270	agC/agT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS5388.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCGCTGG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF07653,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122,PROSITE_profiles:PS50002	T:0.002	.	ENSP00000222644	T:0	7/12	.	.	.	.	.	.	.	.	rs201576683,COSM312925	7/12	nonpreferredpair	ENST00000222644	Transcript	.	T:0.0004	ENSG00000105926	18167	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,synonymous_variant,p.%3D,ENST00000430180,;MPP6,synonymous_variant,p.%3D,ENST00000396475,;MPP6,synonymous_variant,p.%3D,ENST00000409761,;MPP6,synonymous_variant,p.%3D,ENST00000222644,;MPP6,non_coding_transcript_exon_variant,,ENST00000472674,;MPP6,upstream_gene_variant,,ENST00000464384,;	1060	99	77	SUCCESS
HOXA3	3200	.	GRCh37	7	27148273	27148273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	68	0	ENST00000317201.2:c.593A>G	p.Tyr198Cys	p.Y198C	ENST00000317201	NM_153631.2	198	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5404.1	593	RADIA|VARSCANS	.	TCGTGTAGGCC	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137,PROSITE_profiles:PS50071	.	.	ENSP00000379640	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000396352	Transcript	.	.	ENSG00000105997	5104	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	HXA3_HUMAN	HOXA3	HGNC	F2Z3A4_HUMAN,E5RIJ8_HUMAN,A4D182_HUMAN	.	UPI000012CF22	SNV	HOXA3,missense_variant,p.Tyr198Cys,ENST00000317201,;HOXA3,missense_variant,p.Tyr198Cys,ENST00000396352,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000521779,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;	793	68	52	SUCCESS
AMZ1	155185	.	GRCh37	7	2740124	2740124	+	synonymous_variant	Silent	SNP	G	G	A	rs1349523284	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	52	0	ENST00000312371.4:c.39G>A	p.Gly13=	p.G13=	ENST00000312371	NM_133463.1	13	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34589.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGGCCCCG	NONE	.	.	hmmpanther:PTHR32205:SF4,hmmpanther:PTHR32205	.	.	ENSP00000308149	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000312371	Transcript	.	.	ENSG00000174945	22231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMZ1_HUMAN	AMZ1	HGNC	B4DIY9_HUMAN,A4D202_HUMAN	.	UPI00001C1E77	SNV	AMZ1,synonymous_variant,p.%3D,ENST00000407112,;AMZ1,synonymous_variant,p.%3D,ENST00000312371,;AMZ1,upstream_gene_variant,,ENST00000489665,;AMZ1,upstream_gene_variant,,ENST00000485540,;AMZ1,upstream_gene_variant,,ENST00000480560,;	407	52	53	SUCCESS
CCDC129	0	.	GRCh37	7	31683502	31683502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	65	0	ENST00000451887.2:c.2596C>A	p.Gln866Lys	p.Q866K	ENST00000451887	NM_001257968.1	866	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS59050.1	2596	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACCAGGAA	NONE	.	.	Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	11/15	.	.	.	.	.	.	.	.	.	11/15	nonpreferredpair	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.32)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Gln866Lys,ENST00000451887,;CCDC129,missense_variant,p.Gln748Lys,ENST00000409210,;CCDC129,missense_variant,p.Gln692Lys,ENST00000319386,;CCDC129,missense_variant,p.Gln840Lys,ENST00000407970,;	2608	65	70	SUCCESS
SDK1	221935	.	GRCh37	7	4285345	4285345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	15	118	0	ENST00000404826.2:c.6289T>C	p.Ser2097Pro	p.S2097P	ENST00000404826	NM_152744.3	2097	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS34590.1	6289	RADIA|MUTECT|MUSE|VARSCANS	.	ACTACTCAGAC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36	.	.	ENSP00000385899	.	44/45	.	.	.	.	.	.	.	.	.	44/45	nonpreferredpair	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Ser2097Pro,ENST00000404826,;SDK1,missense_variant,p.Ser2077Pro,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000466611,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	6428	118	125	SUCCESS
AKAP9	10142	.	GRCh37	7	91671427	91671427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149244653	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	47	0	ENST00000356239.3:c.4985C>T	p.Ala1662Val	p.A1662V	ENST00000356239	NM_147185.2	1662	gCa/gTa	0	T:0.0007	T:0.0023	.	T:0	.	T	A/V	protein_coding	YES	CCDS5622.1	4985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_benign	GGAAGCACTAA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18932:SF10,hmmpanther:PTHR18932	T:0	T:0	ENSP00000348573	T:0	19/50	.	.	.	.	.	.	.	.	rs149244653	19/50	nonpreferredpair	ENST00000356239	Transcript	.	T:0.0006	ENSG00000127914	379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.904)	T:0	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,missense_variant,p.Ala1662Val,ENST00000356239,;AKAP9,missense_variant,p.Ala1674Val,ENST00000359028,;AKAP9,missense_variant,p.Ala1674Val,ENST00000358100,;AKAP9,intron_variant,,ENST00000484815,;AKAP9,downstream_gene_variant,,ENST00000493453,;	5218	47	36	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813669	106813669	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	53	0	ENST00000407775.2:c.1359A>T	p.Arg453Ser	p.R453S	ENST00000407775	NM_012082.3	453	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47908.1	1359	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGACCAGA	NONE	.	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.07)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Arg321Ser,ENST00000517361,;ZFPM2,missense_variant,p.Arg184Ser,ENST00000378472,;ZFPM2,missense_variant,p.Arg321Ser,ENST00000520492,;ZFPM2,missense_variant,p.Arg453Ser,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1609	53	33	SUCCESS
BLK	640	.	GRCh37	8	11420535	11420535	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376140772	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	28	139	0	ENST00000259089.4:c.1228G>A	p.Gly410Arg	p.G410R	ENST00000259089	NM_001715.2	410	Ggg/Agg	0	A:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS5982.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCGGGGTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF39,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	A:0.0001	ENSP00000259089	.	12/13	.	.	.	.	.	.	.	.	rs376140772	12/13	nonpreferredpair	ENST00000259089	Transcript	1	.	ENSG00000136573	1057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BLK_HUMAN	BLK	HGNC	E9PJX5_HUMAN	.	UPI000006EA28	SNV	BLK,missense_variant,p.Gly339Arg,ENST00000529894,;BLK,missense_variant,p.Gly410Arg,ENST00000259089,;RP11-148O21.2,upstream_gene_variant,,ENST00000533322,;BLK,non_coding_transcript_exon_variant,,ENST00000526097,;	1820	139	156	SUCCESS
ZFAT	57623	.	GRCh37	8	135613836	135613836	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201041569	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	30	148	0	ENST00000377838.3:c.2126G>T	p.Arg709Leu	p.R709L	ENST00000377838	NM_020863.3	709	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS47924.1	2126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACCGGTGC	NONE	byCluster	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0	.	T:0.0001	ENSP00000367069	.	6/16	.	.	.	.	.	.	.	.	rs201041569	6/16	nonpreferredpair	ENST00000377838	Transcript	.	.	ENSG00000066827	19899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	deleterious(0.04)	.	ZFAT_HUMAN	ZFAT	HGNC	.	.	UPI0000210061	SNV	ZFAT,missense_variant,p.Arg697Leu,ENST00000429442,;ZFAT,missense_variant,p.Arg697Leu,ENST00000520214,;ZFAT,missense_variant,p.Arg709Leu,ENST00000377838,;ZFAT,missense_variant,p.Arg647Leu,ENST00000523399,;ZFAT,missense_variant,p.Arg697Leu,ENST00000520727,;ZFAT,missense_variant,p.Arg697Leu,ENST00000520356,;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,missense_variant,p.Arg709Leu,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;ZFAT,upstream_gene_variant,,ENST00000519827,;	2301	148	169	SUCCESS
MROH1	727957	.	GRCh37	8	145234383	145234383	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	54	188	0	ENST00000326134.5:c.194T>G	p.Val65Gly	p.V65G	ENST00000326134		65	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS47938.1	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGTCCTGA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000435565	.	4/43	.	.	.	.	.	.	.	.	.	4/43	nonpreferredpair	ENST00000528919	Transcript	.	.	ENSG00000179832	26958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.52)	.	deleterious(0)	.	MROH1_HUMAN	MROH1	HGNC	.	.	UPI0001AE6FA6	SNV	MROH1,missense_variant,p.Val65Gly,ENST00000534366,;MROH1,missense_variant,p.Val65Gly,ENST00000398656,;MROH1,missense_variant,p.Val65Gly,ENST00000423230,;MROH1,missense_variant,p.Val65Gly,ENST00000528919,;MROH1,missense_variant,p.Val65Gly,ENST00000326134,;MROH1,non_coding_transcript_exon_variant,,ENST00000532255,;MROH1,non_coding_transcript_exon_variant,,ENST00000525287,;MROH1,non_coding_transcript_exon_variant,,ENST00000527552,;MROH1,non_coding_transcript_exon_variant,,ENST00000534508,;	315	188	225	SUCCESS
SLC39A14	23516	.	GRCh37	8	22273745	22273745	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	21	131	0	ENST00000289952.5:c.1099A>G	p.Ile367Val	p.I367V	ENST00000289952	NM_001135153.1	367	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS6030.1	1099	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCATCAGC	NONE	.	.	hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF5,Pfam_domain:PF02535	.	.	ENSP00000352779	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000359741	Transcript	.	.	ENSG00000104635	20858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.18)	.	S39AE_HUMAN	SLC39A14	HGNC	E5RJ40_HUMAN,E5RJG5_HUMAN,E5RIP4_HUMAN,E5RGA7_HUMAN,E5RFZ8_HUMAN,E5RFF5_HUMAN	.	UPI0000457680	SNV	SLC39A14,missense_variant,p.Ile367Val,ENST00000289952,;SLC39A14,missense_variant,p.Ile190Val,ENST00000517370,;SLC39A14,missense_variant,p.Ile367Val,ENST00000381237,;SLC39A14,missense_variant,p.Ile367Val,ENST00000359741,;SLC39A14,missense_variant,p.Ile367Val,ENST00000240095,;SLC39A14,non_coding_transcript_exon_variant,,ENST00000518348,;	1274	131	133	SUCCESS
FNTA	2339	.	GRCh37	8	42911627	42911627	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	25	0	ENST00000302279.3:c.138C>T	p.Ala46=	p.A46=	ENST00000302279	NM_002027.2	46	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6140.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCGTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11129:SF1,hmmpanther:PTHR11129	.	.	ENSP00000303423	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000302279	Transcript	.	.	ENSG00000168522	3782	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNTA_HUMAN	FNTA	HGNC	E9PPM9_HUMAN,D3DSY9_HUMAN,B3KVN2_HUMAN	.	UPI000013176D	SNV	FNTA,synonymous_variant,p.%3D,ENST00000302279,;FNTA,synonymous_variant,p.%3D,ENST00000342116,;FNTA,synonymous_variant,p.%3D,ENST00000531266,;RP11-598P20.5,intron_variant,,ENST00000534420,;FNTA,upstream_gene_variant,,ENST00000533336,;FNTA,upstream_gene_variant,,ENST00000529687,;FNTA,upstream_gene_variant,,ENST00000525699,;FNTA,non_coding_transcript_exon_variant,,ENST00000524546,;FNTA,non_coding_transcript_exon_variant,,ENST00000527153,;FNTA,intron_variant,,ENST00000533559,;FNTA,synonymous_variant,p.%3D,ENST00000526755,;FNTA,synonymous_variant,p.%3D,ENST00000533383,;FNTA,synonymous_variant,p.%3D,ENST00000533998,;FNTA,non_coding_transcript_exon_variant,,ENST00000533368,;	332	25	42	SUCCESS
ZFHX4	79776	.	GRCh37	8	77767616	77767616	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	76	0	ENST00000521891.2:c.8459A>C	p.Asn2820Thr	p.N2820T	ENST00000521891	NM_024721.4	2820	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS47878.2	8459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAACACTG	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	nonpreferredpair	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Asn2775Thr,ENST00000455469,;ZFHX4,missense_variant,p.Asn2794Thr,ENST00000518282,;ZFHX4,missense_variant,p.Asn2775Thr,ENST00000050961,;ZFHX4,missense_variant,p.Asn2820Thr,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	8907	76	40	SUCCESS
LRRC69	100130742	.	GRCh37	8	92114903	92114903	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	66	0	ENST00000448384.2:c.14T>C	p.Leu5Ser	p.L5S	ENST00000448384	NM_001129890.1	5	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	.	14	RADIA|MUSE|VARSCANS	.	GAGATTGTTAA	NONE	.	.	.	.	.	ENSP00000400803	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000448384	Transcript	.	.	ENSG00000214954	34303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.632)	.	deleterious(0)	.	LRC69_HUMAN	LRRC69	HGNC	E5RJ66_HUMAN	.	UPI00006C0DD3	SNV	LRRC69,missense_variant,p.Leu5Ser,ENST00000343709,;LRRC69,missense_variant,p.Leu5Ser,ENST00000448384,;LRRC69,missense_variant,p.Leu5Ser,ENST00000518304,;LRRC69,upstream_gene_variant,,ENST00000522144,;LRRC69,missense_variant,p.Leu5Ser,ENST00000520099,;	14	66	55	SUCCESS
GPR144	0	.	GRCh37	9	127232800	127232800	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	31	190	0	ENST00000334810.1:c.2586G>T	p.Leu862=	p.L862=	ENST00000334810	NM_001161808.1	862	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	.	2586	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGCTGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF58,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000335156	.	17/20	.	.	.	.	.	.	.	.	.	17/20	nonpreferredpair	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	SNV	GPR144,synonymous_variant,p.%3D,ENST00000334810,;	2586	190	185	SUCCESS
SPTAN1	6709	.	GRCh37	9	131389786	131389786	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	102	0	ENST00000372731.4:c.6674+9C>T		p.*2225*	ENST00000372731	NM_003127.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48036.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCGCTG	NONE	.	.	.	.	.	ENSP00000361824	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODIFIER	50/56	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Pro2233Leu,ENST00000358161,;SPTAN1,intron_variant,,ENST00000372739,;SPTAN1,intron_variant,,ENST00000372731,;SPTAN1,downstream_gene_variant,,ENST00000491712,;	.	102	105	SUCCESS
COL4A6	1288	.	GRCh37	X	107681209	107681209	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	60	234	0	ENST00000372216.4:c.29T>A	p.Leu10Gln	p.L10Q	ENST00000372216	NM_001847.2	10	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14541.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164	.	.	ENSP00000361290	.	2/45	.	.	.	.	.	.	.	.	.	2/45	nonpreferredpair	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,missense_variant,p.Leu10Gln,ENST00000372216,;COL4A6,missense_variant,p.Leu9Gln,ENST00000538570,;COL4A6,missense_variant,p.Leu9Gln,ENST00000334504,;COL4A6,missense_variant,p.Leu9Gln,ENST00000394872,;COL4A6,missense_variant,p.Leu9Gln,ENST00000545689,;COL4A5,upstream_gene_variant,,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000328300,;COL4A6,non_coding_transcript_exon_variant,,ENST00000461897,;COL4A6,non_coding_transcript_exon_variant,,ENST00000477085,;COL4A5,upstream_gene_variant,,ENST00000477429,;COL4A6,non_coding_transcript_exon_variant,,ENST00000468338,;COL4A5,upstream_gene_variant,,ENST00000470339,;	130	234	203	SUCCESS
MID1IP1	58526	.	GRCh37	X	38664328	38664328	+	synonymous_variant	Silent	SNP	G	G	C	rs777603388	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	354	10	313	0	ENST00000336949.6:c.129G>C	p.Leu43=	p.L43=	ENST00000336949	NM_021242.4	43	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS14249.1	129	MUTECT|MUSE	.	CCCCTGGCTGA	NONE	byFrequency	.	hmmpanther:PTHR14315,hmmpanther:PTHR14315:SF14,Pfam_domain:PF07084	.	.	ENSP00000338706	.	2/2	.	.	.	.	.	.	.	.	rs777603388	2/2	nonpreferredpair	ENST00000336949	Transcript	.	.	ENSG00000165175	20715	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M1IP1_HUMAN	MID1IP1	HGNC	.	.	UPI0000035824	SNV	MID1IP1,synonymous_variant,p.%3D,ENST00000378474,;MID1IP1,synonymous_variant,p.%3D,ENST00000457894,;MID1IP1,synonymous_variant,p.%3D,ENST00000336949,;MID1IP1-AS1,upstream_gene_variant,,ENST00000436893,;	1074	313	364	SUCCESS
HUWE1	10075	.	GRCh37	X	53655712	53655712	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	108	0	ENST00000262854.6:c.1105G>A	p.Ala369Thr	p.A369T	ENST00000262854	NM_031407.5	369	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS35301.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCCTGGA	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Pfam_domain:PF06012,Superfamily_domains:SSF48371	.	.	ENSP00000340648	.	13/83	.	.	.	.	.	.	.	.	.	13/83	nonpreferredpair	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Ala369Thr,ENST00000218328,;HUWE1,missense_variant,p.Ala369Thr,ENST00000342160,;HUWE1,missense_variant,p.Ala369Thr,ENST00000262854,;HUWE1,upstream_gene_variant,,ENST00000424562,;HUWE1,upstream_gene_variant,,ENST00000489876,;HUWE1,downstream_gene_variant,,ENST00000471676,;	1563	108	85	SUCCESS
CHST15	51363	.	GRCh37	10	125804199	125804199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	21	0	ENST00000346248.5:c.783G>T	p.Gln261His	p.Q261H	ENST00000346248	NM_015892.4	261	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7638.1	783	RADIA|VARSCANS	.	TTGGGCTGCCC	NONE	.	.	hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333947	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000346248	Transcript	.	.	ENSG00000182022	18137	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CHSTF_HUMAN	CHST15	HGNC	.	.	UPI000004D06B	SNV	CHST15,missense_variant,p.Gln261His,ENST00000421115,;CHST15,missense_variant,p.Gln261His,ENST00000435907,;CHST15,missense_variant,p.Gln261His,ENST00000346248,;CHST15,downstream_gene_variant,,ENST00000462406,;	1426	21	36	SUCCESS
LRIT1	26103	.	GRCh37	10	85997395	85997395	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1589324309	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	19	0	ENST00000372105.3:c.170T>C	p.Ile57Thr	p.I57T	ENST00000372105	NM_015613.2	57	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS7373.1	170	MUTECT|MUSE	.	GGGGGATGGAC	NONE	.	.	.	.	.	ENSP00000361177	.	2/4	.	.	.	.	.	.	.	.	COSM3983798	2/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.272)	.	deleterious(0.01)	1	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Ile57Thr,ENST00000372105,;	192	19	22	SUCCESS
SLC22A8	9376	.	GRCh37	11	62782428	62782428	+	start_lost	Translation_Start_Site	SNP	C	C	T	.	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	25	0	ENST00000336232.2:c.3G>A	p.Met1?	p.M1?	ENST00000336232	NM_001184736.1	1	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS8042.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCATGGC	NONE	.	.	.	.	.	ENSP00000337335	.	2/11	.	.	.	.	.	.	.	.	COSM689813	2/11	PASS	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.985)	.	deleterious(0)	1	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,start_lost,p.Met1?,ENST00000336232,;SLC22A8,start_lost,p.Met1?,ENST00000430500,;SLC22A8,start_lost,p.Met1?,ENST00000311438,;SLC22A8,intron_variant,,ENST00000535878,;SLC22A8,intron_variant,,ENST00000545207,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000544707,;	139	25	33	SUCCESS
PITPNM1	9600	.	GRCh37	11	67261260	67261260	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	46	0	ENST00000356404.3:c.3057C>A	p.Gly1019=	p.G1019=	ENST00000356404	NM_001130848.1	1019	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31620.1	3057	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGCCGCG	NONE	.	.	hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40	.	.	ENSP00000348772	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000356404	Transcript	.	.	ENSG00000110697	9003	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PITM1_HUMAN	PITPNM1	HGNC	E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN	.	UPI00001FAD31	SNV	PITPNM1,synonymous_variant,p.%3D,ENST00000436757,;PITPNM1,synonymous_variant,p.%3D,ENST00000356404,;PITPNM1,synonymous_variant,p.%3D,ENST00000534749,;AIP,downstream_gene_variant,,ENST00000528641,;AIP,downstream_gene_variant,,ENST00000279146,;AIP,downstream_gene_variant,,ENST00000525341,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000526602,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;AIP,downstream_gene_variant,,ENST00000529797,;	3283	46	50	SUCCESS
OR2AG2	338755	.	GRCh37	11	6789560	6789560	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	62	1	ENST00000338569.2:c.629C>T	p.Pro210Leu	p.P210L	ENST00000338569	NM_001004490.1	210	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31413.1	629	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGGGAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF107,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342697	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338569	Transcript	.	.	ENSG00000188124	15143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.119)	.	deleterious(0.01)	.	O2AG2_HUMAN	OR2AG2	HGNC	.	.	UPI0000041C10	SNV	OR2AG2,missense_variant,p.Pro210Leu,ENST00000338569,;	727	63	57	SUCCESS
KCTD21	283219	.	GRCh37	11	77885144	77885144	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	38	1	ENST00000340067.3:c.457T>G	p.Cys153Gly	p.C153G	ENST00000340067	NM_001029859.1	153	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS31645.1	457	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGGAGG	NONE	.	.	hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF57	.	.	ENSP00000339340	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340067	Transcript	.	.	ENSG00000188997	27452	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.57)	.	KCD21_HUMAN	KCTD21	HGNC	E9PRT1_HUMAN,E9PMS5_HUMAN,E9PM10_HUMAN,E9PK99_HUMAN,E9PJJ5_HUMAN	.	UPI000016193F	SNV	KCTD21,missense_variant,p.Cys153Gly,ENST00000340067,;KCTD21,missense_variant,p.Cys153Gly,ENST00000526208,;KCTD21,downstream_gene_variant,,ENST00000525447,;KCTD21,downstream_gene_variant,,ENST00000530018,;KCTD21,downstream_gene_variant,,ENST00000528776,;KCTD21,downstream_gene_variant,,ENST00000529350,;KCTD21-AS1,non_coding_transcript_exon_variant,,ENST00000600795,;KCTD21-AS1,downstream_gene_variant,,ENST00000530261,;KCTD21-AS1,downstream_gene_variant,,ENST00000528468,;KCTD21-AS1,downstream_gene_variant,,ENST00000523626,;	736	39	34	SUCCESS
WEE1	7465	.	GRCh37	11	9597784	9597784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	19	127	0	ENST00000450114.2:c.790G>A	p.Gly264Ser	p.G264S	ENST00000450114	NM_003390.3	264	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7800.1	790	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGGTGAA	NONE	.	.	hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,PIRSF_domain:PIRSF037281	.	.	ENSP00000402084	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000450114	Transcript	.	.	ENSG00000166483	12761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.12)	.	WEE1_HUMAN	WEE1	HGNC	E9PRU3_HUMAN	.	UPI0000138EF4	SNV	WEE1,missense_variant,p.Gly50Ser,ENST00000299613,;WEE1,missense_variant,p.Gly264Ser,ENST00000450114,;WEE1,upstream_gene_variant,,ENST00000524612,;WEE1,upstream_gene_variant,,ENST00000530712,;snoU13,upstream_gene_variant,,ENST00000458785,;RN7SL56P,upstream_gene_variant,,ENST00000470034,;WEE1,non_coding_transcript_exon_variant,,ENST00000524549,;	1043	127	137	SUCCESS
MYBPC1	4604	.	GRCh37	12	102076403	102076403	+	intron_variant	Intron	SNP	C	C	T	rs1351132907	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	29	91	0	ENST00000550270.1:c.3413-1757C>T		p.*1138*	ENST00000550270		1145		0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS58268.1	3434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACCCCTG	NONE	.	.	hmmpanther:PTHR19900:SF43,hmmpanther:PTHR19900	.	.	ENSP00000400908	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000452455	Transcript	.	.	ENSG00000196091	7549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.22)	.	MYPC1_HUMAN	MYBPC1	HGNC	F8W1Z9_HUMAN	.	UPI0001AE6B26	SNV	MYBPC1,missense_variant,p.Thr1108Ile,ENST00000536007,;MYBPC1,missense_variant,p.Thr1101Ile,ENST00000547405,;MYBPC1,missense_variant,p.Thr1152Ile,ENST00000361466,;MYBPC1,missense_variant,p.Thr1145Ile,ENST00000452455,;MYBPC1,missense_variant,p.Thr1127Ile,ENST00000545503,;MYBPC1,missense_variant,p.Thr1145Ile,ENST00000441232,;MYBPC1,missense_variant,p.Thr1113Ile,ENST00000547509,;MYBPC1,missense_variant,p.Thr1115Ile,ENST00000541119,;MYBPC1,intron_variant,,ENST00000550270,;MYBPC1,intron_variant,,ENST00000361685,;MYBPC1,intron_variant,,ENST00000551300,;MYBPC1,intron_variant,,ENST00000549145,;MYBPC1,intron_variant,,ENST00000392934,;MYBPC1,intron_variant,,ENST00000553190,;MYBPC1,intron_variant,,ENST00000360610,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000550501,;MYBPC1,intron_variant,,ENST00000549608,;	3536	91	131	SUCCESS
OVCH1	341350	.	GRCh37	12	29598311	29598311	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	50	0	ENST00000318184.5:c.2781C>A	p.Tyr927Ter	p.Y927*	ENST00000318184	NM_183378.2	927	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	.	2781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAGTAAAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000326708	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,stop_gained,p.Tyr927Ter,ENST00000318184,;OVCH1-AS1,intron_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1,upstream_gene_variant,,ENST00000537054,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1,upstream_gene_variant,,ENST00000539117,;	2781	50	85	SUCCESS
PDZRN4	29951	.	GRCh37	12	41966174	41966174	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	64	2	ENST00000402685.2:c.1593G>A	p.Lys531=	p.K531=	ENST00000402685	NM_001164595.1	531	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS53777.1	1593	SOMATICSNIPER|VARSCANS	.	AAAAAGCAAGA	NONE	.	.	hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,Low_complexity_(Seg):seg	.	.	ENSP00000384197	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,synonymous_variant,p.%3D,ENST00000298919,;PDZRN4,synonymous_variant,p.%3D,ENST00000539469,;PDZRN4,synonymous_variant,p.%3D,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	1601	66	74	SUCCESS
SP7	121340	.	GRCh37	12	53722106	53722106	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758338010	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	37	0	ENST00000303846.3:c.1120C>T	p.Arg374Cys	p.R374C	ENST00000303846	NM_152860.1	374	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS44897.1	1120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCGCTGGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF12,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000443827	.	3/3	.	.	.	.	.	.	.	.	rs758338010	3/3	PASS	ENST00000536324	Transcript	.	.	ENSG00000170374	17321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	SP7_HUMAN	SP7	HGNC	F8VV67_HUMAN	.	UPI000000D7AE	SNV	SP7,missense_variant,p.Arg356Cys,ENST00000537210,;SP7,missense_variant,p.Arg374Cys,ENST00000536324,;SP7,missense_variant,p.Arg374Cys,ENST00000303846,;AAAS,upstream_gene_variant,,ENST00000550286,;SP7,downstream_gene_variant,,ENST00000547755,;AAAS,upstream_gene_variant,,ENST00000548258,;AAAS,upstream_gene_variant,,ENST00000551724,;	1404	37	40	SUCCESS
IL23A	51561	.	GRCh37	12	56733526	56733526	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	51	1	ENST00000228534.4:c.313G>C	p.Gly105Arg	p.G105R	ENST00000228534	NM_016584.2	105	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS8916.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTAGGATCG	NONE	.	.	hmmpanther:PTHR15947,Gene3D:1.20.1250.10,Pfam_domain:PF00489,Superfamily_domains:SSF47266	.	.	ENSP00000228534	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000228534	Transcript	.	.	ENSG00000110944	15488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	IL23A_HUMAN	IL23A	HGNC	.	.	UPI0000034E42	SNV	IL23A,missense_variant,p.Gly105Arg,ENST00000228534,;STAT2,downstream_gene_variant,,ENST00000557235,;STAT2,downstream_gene_variant,,ENST00000314128,;STAT2,downstream_gene_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000555488,;	479	52	51	SUCCESS
CHD4	1108	.	GRCh37	12	6690892	6690892	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	63	1	ENST00000357008.2:c.4604C>T	p.Ser1535Leu	p.S1535L	ENST00000357008	NM_001273.2	1535	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS8552.1	4604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGACCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554	.	.	ENSP00000349508	.	31/40	.	.	.	.	.	.	.	.	.	31/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,missense_variant,p.Ser1528Leu,ENST00000544040,;CHD4,missense_variant,p.Ser1560Leu,ENST00000544484,;CHD4,missense_variant,p.Ser1563Leu,ENST00000309577,;CHD4,missense_variant,p.Ser1535Leu,ENST00000357008,;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,intron_variant,,ENST00000501075,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000542717,;CHD4,downstream_gene_variant,,ENST00000540960,;	4768	64	93	SUCCESS
ZNF839	55778	.	GRCh37	14	102807765	102807765	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs781429155	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	55	1	ENST00000558850.1:c.1685T>G	p.Leu562Arg	p.L562R	ENST00000558850	NM_001267827.1	562	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS45164.1	2033	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCAGCTTCAGG	NONE	byFrequency	.	hmmpanther:PTHR16116	.	.	ENSP00000399863	.	8/8	.	.	.	.	.	.	.	.	rs781429155	8/8	PASS	ENST00000442396	Transcript	.	.	ENSG00000022976	20345	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	tolerated(0.06)	.	ZN839_HUMAN	ZNF839	HGNC	H0YKY1_HUMAN,B3KWS2_HUMAN	.	UPI0001596890	SNV	ZNF839,missense_variant,p.Leu278Arg,ENST00000559155,;ZNF839,missense_variant,p.Leu226Arg,ENST00000561251,;ZNF839,missense_variant,p.Leu562Arg,ENST00000558850,;ZNF839,missense_variant,p.Leu562Arg,ENST00000559185,;ZNF839,missense_variant,p.Leu678Arg,ENST00000442396,;ZNF839,missense_variant,p.Leu564Arg,ENST00000262236,;ZNF839,intron_variant,,ENST00000558490,;ZNF839,intron_variant,,ENST00000560112,;ZNF839,intron_variant,,ENST00000558462,;ZNF839,downstream_gene_variant,,ENST00000560568,;AL137229.1,downstream_gene_variant,,ENST00000577622,;ZNF839,non_coding_transcript_exon_variant,,ENST00000420933,;ZNF839,3_prime_UTR_variant,,ENST00000559098,;ZNF839,non_coding_transcript_exon_variant,,ENST00000557803,;CINP,downstream_gene_variant,,ENST00000559514,;CINP,downstream_gene_variant,,ENST00000559504,;	2048	56	74	SUCCESS
SPTB	6710	.	GRCh37	14	65241980	65241980	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	31	0	ENST00000389721.5:c.4705C>T	p.Leu1569=	p.L1569=	ENST00000389721	NM_000347.5	1569	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32099.1	4705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGCCTGT	NONE	.	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	.	.	ENSP00000374372	.	22/35	.	.	.	.	.	.	.	.	.	22/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,synonymous_variant,p.%3D,ENST00000389721,;SPTB,synonymous_variant,p.%3D,ENST00000556626,;SPTB,synonymous_variant,p.%3D,ENST00000553938,;SPTB,synonymous_variant,p.%3D,ENST00000389722,;SPTB,synonymous_variant,p.%3D,ENST00000542895,;SPTB,synonymous_variant,p.%3D,ENST00000389720,;	4759	31	39	SUCCESS
RPAP1	26015	.	GRCh37	15	41816168	41816168	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	41	0	ENST00000304330.4:c.2237A>G	p.Asp746Gly	p.D746G	ENST00000304330	NM_015540.2	746	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS10079.1	2237	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATCACTA	NONE	.	.	hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483	.	.	ENSP00000306123	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000304330	Transcript	.	.	ENSG00000103932	24567	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.39)	.	RPAP1_HUMAN	RPAP1	HGNC	H3BPY8_HUMAN,H3BPM3_HUMAN	.	UPI000013D465	SNV	RPAP1,missense_variant,p.Asp746Gly,ENST00000561603,;RPAP1,missense_variant,p.Asp137Gly,ENST00000565035,;RPAP1,missense_variant,p.Asp746Gly,ENST00000304330,;RPAP1,downstream_gene_variant,,ENST00000568413,;RPAP1,missense_variant,p.Asp746Gly,ENST00000562303,;RPAP1,splice_region_variant,,ENST00000561631,;RPAP1,upstream_gene_variant,,ENST00000565167,;RPAP1,upstream_gene_variant,,ENST00000564934,;	2354	41	53	SUCCESS
FBXL19	54620	.	GRCh37	16	30938694	30938694	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765511827	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	3	57	0	ENST00000380310.2:c.303G>T	p.Glu101Asp	p.E101D	ENST00000380310	NM_001099784.2	101	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45465.1	303	MUTECT|MUSE	.	GTGGAGGGAGA	NONE	byFrequency	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016	.	.	ENSP00000369666	.	3/11	.	.	.	.	.	.	.	.	rs765511827	3/11	PASS	ENST00000380310	Transcript	.	.	ENSG00000099364	25300	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.585)	.	tolerated(0.13)	.	FXL19_HUMAN	FBXL19	HGNC	H3BVB1_HUMAN,H3BQP6_HUMAN,H3BPZ0_HUMAN	.	UPI00015C725E	SNV	FBXL19,missense_variant,p.Glu81Asp,ENST00000565690,;FBXL19,missense_variant,p.Glu36Asp,ENST00000427128,;FBXL19,missense_variant,p.Glu101Asp,ENST00000380310,;FBXL19,missense_variant,p.Glu81Asp,ENST00000562319,;FBXL19,missense_variant,p.Glu81Asp,ENST00000338343,;FBXL19,5_prime_UTR_variant,,ENST00000471231,;FBXL19,downstream_gene_variant,,ENST00000562798,;FBXL19-AS1,upstream_gene_variant,,ENST00000563777,;	461	57	63	SUCCESS
SALL1	6299	.	GRCh37	16	51173574	51173574	+	synonymous_variant	Silent	SNP	A	A	C	rs747035568	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	65	1	ENST00000251020.4:c.2559T>G	p.Ser853=	p.S853=	ENST00000251020	NM_002968.2	853	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS10747.1	2559	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAAGAGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	rs747035568	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,synonymous_variant,p.%3D,ENST00000251020,;SALL1,synonymous_variant,p.%3D,ENST00000570206,;SALL1,synonymous_variant,p.%3D,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	2593	66	65	SUCCESS
PHLPP2	23035	.	GRCh37	16	71682851	71682851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	42	1	ENST00000568954.1:c.3914C>A	p.Pro1305His	p.P1305H	ENST00000568954		1305	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS32479.1	3914	MUTECT|SOMATICSNIPER|VARSCANS	.	GCTCAGGCTCG	NONE	.	.	.	.	.	ENSP00000457991	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000568954	Transcript	.	.	ENSG00000040199	29149	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.01)	.	PHLP2_HUMAN	PHLPP2	HGNC	.	.	UPI0000229F5A	SNV	PHLPP2,missense_variant,p.Pro1340His,ENST00000567016,;PHLPP2,missense_variant,p.Pro1305His,ENST00000356272,;PHLPP2,missense_variant,p.Pro1305His,ENST00000568954,;PHLPP2,missense_variant,p.Pro1238His,ENST00000393524,;PHLPP2,intron_variant,,ENST00000360429,;PHLPP2,intron_variant,,ENST00000540628,;PHLPP2,intron_variant,,ENST00000568004,;PHLPP2,intron_variant,,ENST00000564884,;	4293	43	40	SUCCESS
SPG7	6687	.	GRCh37	16	89574985	89574985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	14	0	ENST00000268704.2:c.160G>A	p.Glu54Lys	p.E54K	ENST00000268704	NM_003119.2	54	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10977.1	160	RADIA|MUTECT|MUSE	.	TCGCCGAGGCT	NONE	.	.	HAMAP:MF_01458,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF47	.	.	ENSP00000268704	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000268704	Transcript	.	.	ENSG00000197912	11237	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.53)	.	SPG7_HUMAN	SPG7	HGNC	.	.	UPI0000031FAA	SNV	SPG7,missense_variant,p.Glu54Lys,ENST00000341316,;SPG7,missense_variant,p.Glu54Lys,ENST00000268704,;SPG7,intron_variant,,ENST00000566371,;SPG7,upstream_gene_variant,,ENST00000568151,;RP11-104N10.1,upstream_gene_variant,,ENST00000565623,;SPG7,non_coding_transcript_exon_variant,,ENST00000569363,;SPG7,intron_variant,,ENST00000563783,;	175	14	28	SUCCESS
MYH1	4619	.	GRCh37	17	10395803	10395803	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	68	0	ENST00000226207.5:c.5750C>T	p.Ala1917Val	p.A1917V	ENST00000226207	NM_005963.3	1917	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11155.1	5750	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGCAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000226207	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Ala1917Val,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5845	68	113	SUCCESS
SLFN12L	100506736	.	GRCh37	17	33849543	33849543	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs118158191	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	30	134	0	ENST00000361112.4:c.-145C>T		p.*49*	ENST00000361112				0	.	A:0	.	A:0	.	A	.	protein_coding	.	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGAGCAA	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000354412	A:0.001	2/5	.	.	.	.	.	.	.	.	rs118158191	2/5	PASS	ENST00000361112	Transcript	.	A:0.0002	ENSG00000205045	33920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SN12L_HUMAN	SLFN12L	HGNC	.	.	UPI000041A9FA	SNV	SLFN12L,5_prime_UTR_variant,,ENST00000361112,;	735	135	179	SUCCESS
KRT13	3860	.	GRCh37	17	39659628	39659628	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	30	0	ENST00000246635.3:c.646G>C	p.Asp216His	p.D216H	ENST00000246635	NM_153490.2	216	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS11396.1	646	MUTECT|MUSE|VARSCANS	.	CTCATCCAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000246635	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000246635	Transcript	.	.	ENSG00000171401	6415	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	K1C13_HUMAN	KRT13	HGNC	K7ERE3_HUMAN,K7EMD9_HUMAN	.	UPI000013CBF6	SNV	KRT13,missense_variant,p.Asp216His,ENST00000246635,;KRT13,missense_variant,p.Asp109His,ENST00000590425,;KRT13,missense_variant,p.Asp216His,ENST00000587544,;KRT13,missense_variant,p.Asp216His,ENST00000336861,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	693	30	37	SUCCESS
AATK	9625	.	GRCh37	17	79100253	79100253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	62	0	ENST00000326724.4:c.729C>A	p.His243Gln	p.H243Q	ENST00000326724	NM_001080395.2	243	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS45807.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTGCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000324196	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,missense_variant,p.His243Gln,ENST00000326724,;AATK,missense_variant,p.His140Gln,ENST00000417379,;AATK,downstream_gene_variant,,ENST00000575363,;MIR657,upstream_gene_variant,,ENST00000385003,;MIR338,downstream_gene_variant,,ENST00000390137,;AATK,non_coding_transcript_exon_variant,,ENST00000572339,;AATK,upstream_gene_variant,,ENST00000573441,;AATK,missense_variant,p.His243Gln,ENST00000374792,;AATK,non_coding_transcript_exon_variant,,ENST00000576053,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;	754	62	79	SUCCESS
FBXO15	201456	.	GRCh37	18	71749184	71749184	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs759134369	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	29	179	0	ENST00000419743.2:c.1241A>T	p.Asp414Val	p.D414V	ENST00000419743	NM_001142958.1	414	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS45884.1	1241	RADIA|MUTECT|MUSE|VARSCANS	.	AAATATCAGTT	NONE	.	.	hmmpanther:PTHR20995:SF16,hmmpanther:PTHR20995	.	.	ENSP00000393154	.	9/10	.	.	.	.	.	.	.	.	rs759134369	9/10	PASS	ENST00000419743	Transcript	.	.	ENSG00000141665	13617	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.312)	.	deleterious(0)	.	FBX15_HUMAN	FBXO15	HGNC	J3QRE7_HUMAN	.	UPI00003CF23D	SNV	FBXO15,missense_variant,p.Asp414Val,ENST00000419743,;FBXO15,missense_variant,p.Asp338Val,ENST00000269500,;FBXO15,missense_variant,p.Asp83Val,ENST00000580088,;FBXO15,non_coding_transcript_exon_variant,,ENST00000580806,;FBXO15,non_coding_transcript_exon_variant,,ENST00000577575,;FBXO15,upstream_gene_variant,,ENST00000579108,;FBXO15,3_prime_UTR_variant,,ENST00000583443,;FBXO15,3_prime_UTR_variant,,ENST00000578399,;FBXO15,3_prime_UTR_variant,,ENST00000581214,;FBXO15,non_coding_transcript_exon_variant,,ENST00000584425,;	1321	179	214	SUCCESS
KEAP1	9817	.	GRCh37	19	10610300	10610300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	36	0	ENST00000171111.5:c.410T>C	p.Ile137Thr	p.I137T	ENST00000171111	NM_203500.1	137	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS12239.1	410	MUTECT|MUSE|VARSCANS	.	ATTCAATGAGG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.759)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Ile137Thr,ENST00000591419,;KEAP1,missense_variant,p.Ile137Thr,ENST00000591039,;KEAP1,missense_variant,p.Ile137Thr,ENST00000393623,;KEAP1,missense_variant,p.Ile137Thr,ENST00000171111,;KEAP1,missense_variant,p.Ile137Thr,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	958	36	48	SUCCESS
EPS15L1	58513	.	GRCh37	19	16545246	16545246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	49	1	ENST00000248070.6:c.428G>T	p.Gly143Val	p.G143V	ENST00000248070	NM_021235.2	143	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS58654.1	428	RADIA|MUTECT|MUSE	.	GCAAACCATTG	NONE	.	.	PROSITE_profiles:PS50031,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF69,Gene3D:1.10.238.10,Pfam_domain:PF12763,SMART_domains:SM00027,Superfamily_domains:SSF47473	.	.	ENSP00000393313	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000455140	Transcript	.	.	ENSG00000127527	24634	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	EP15R_HUMAN	EPS15L1	HGNC	.	.	UPI0000D4C04A	SNV	EPS15L1,missense_variant,p.Gly143Val,ENST00000594975,;EPS15L1,missense_variant,p.Gly143Val,ENST00000455140,;EPS15L1,missense_variant,p.Gly143Val,ENST00000248070,;EPS15L1,missense_variant,p.Gly143Val,ENST00000535753,;EPS15L1,missense_variant,p.Gly143Val,ENST00000597937,;EPS15L1,5_prime_UTR_variant,,ENST00000602009,;EPS15L1,missense_variant,p.Val72Phe,ENST00000593760,;EPS15L1,missense_variant,p.Gly143Val,ENST00000602022,;EPS15L1,3_prime_UTR_variant,,ENST00000596037,;EPS15L1,3_prime_UTR_variant,,ENST00000592031,;EPS15L1,downstream_gene_variant,,ENST00000597559,;	495	50	68	SUCCESS
ZNF730	100129543	.	GRCh37	19	23328629	23328629	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs780209391	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	14	0	ENST00000597761.2:c.783T>A	p.Cys261Ter	p.C261*	ENST00000597761	NM_001277403.1	261	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS59371.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTGGCAA	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472959	.	4/4	.	.	.	.	.	.	.	.	rs780209391	4/4	PASS	ENST00000597761	Transcript	.	.	ENSG00000183850	32470	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN730_HUMAN	ZNF730	HGNC	.	.	UPI000035E7F4	SNV	ZNF730,stop_gained,p.Cys261Ter,ENST00000597761,;ZNF730,downstream_gene_variant,,ENST00000599195,;	982	14	16	SUCCESS
DPF1	8193	.	GRCh37	19	38713010	38713010	+	synonymous_variant	Silent	SNP	G	G	A	rs1220096548	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	40	1	ENST00000420980.2:c.366C>T	p.Cys122=	p.C122=	ENST00000420980	NM_004647.2	122	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46064.1	366	MUTECT|MUSE|VARSCANS	.	TACTCGCAGGG	NONE	.	.	hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF92	.	.	ENSP00000347716	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000355526	Transcript	.	.	ENSG00000011332	20225	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPF1_HUMAN	DPF1	HGNC	K7EJD5_HUMAN,C9JGC1_HUMAN,C9IZH8_HUMAN	.	UPI00018131F2	SNV	DPF1,synonymous_variant,p.%3D,ENST00000416611,;DPF1,synonymous_variant,p.%3D,ENST00000586624,;DPF1,synonymous_variant,p.%3D,ENST00000412732,;DPF1,synonymous_variant,p.%3D,ENST00000438365,;DPF1,synonymous_variant,p.%3D,ENST00000438060,;DPF1,synonymous_variant,p.%3D,ENST00000414789,;DPF1,synonymous_variant,p.%3D,ENST00000355526,;DPF1,synonymous_variant,p.%3D,ENST00000420980,;DPF1,synonymous_variant,p.%3D,ENST00000456296,;DPF1,stop_gained,p.Arg95Ter,ENST00000418517,;DPF1,non_coding_transcript_exon_variant,,ENST00000471976,;DPF1,non_coding_transcript_exon_variant,,ENST00000475938,;DPF1,upstream_gene_variant,,ENST00000472656,;DPF1,upstream_gene_variant,,ENST00000473716,;	393	41	61	SUCCESS
ATP1A1OS	0	.	GRCh37	1	116948480	116948480	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	51	0	ENST00000369492.4:n.665T>G		p.*222*	ENST00000369492				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53351.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACATTTGT	NONE	.	1086	.	.	.	ENSP00000445306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,intron_variant,,ENST00000440951,;ATP1A1,downstream_gene_variant,,ENST00000537345,;ATP1A1,downstream_gene_variant,,ENST00000295598,;ATP1A1,downstream_gene_variant,,ENST00000369496,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369492,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369491,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1,upstream_gene_variant,,ENST00000495965,;ATP1A1,downstream_gene_variant,,ENST00000479960,;	.	51	64	SUCCESS
LCE1A	353131	.	GRCh37	1	152800128	152800128	+	synonymous_variant	Silent	SNP	C	C	T	rs759749053	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	19	70	2	ENST00000335123.2:c.180C>T	p.Cys60=	p.C60=	ENST00000335123	NM_178348.2	60	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS1028.1	180	SOMATICSNIPER|VARSCANS	.	GGCTGCAGCTC	NONE	byFrequency	.	Pfam_domain:PF14672,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Low_complexity_(Seg):seg	.	.	ENSP00000334869	.	1/1	.	.	.	.	.	.	.	.	rs759749053	1/1	PASS	ENST00000335123	Transcript	.	.	ENSG00000186844	29459	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCE1A_HUMAN	LCE1A	HGNC	.	.	UPI0000192766	SNV	LCE1A,synonymous_variant,p.%3D,ENST00000335123,;	180	72	113	SUCCESS
ADCY10	55811	.	GRCh37	1	167849404	167849404	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778932200	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	16	95	0	ENST00000367851.4:c.1165G>A	p.Gly389Arg	p.G389R	ENST00000367851	NM_018417.4	389	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1265.1	1165	RADIA|MUTECT|MUSE	.	AATCCCACTGG	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR16305:SF23,hmmpanther:PTHR16305,Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF011131,Superfamily_domains:SSF55073	.	.	ENSP00000356825	.	11/33	.	.	.	.	.	.	.	.	rs778932200	11/33	PASS	ENST00000367851	Transcript	.	.	ENSG00000143199	21285	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADCYA_HUMAN	ADCY10	HGNC	.	.	UPI0000204D00	SNV	ADCY10,missense_variant,p.Gly236Arg,ENST00000545172,;ADCY10,missense_variant,p.Gly389Arg,ENST00000367851,;ADCY10,missense_variant,p.Gly297Arg,ENST00000367848,;	1350	95	131	SUCCESS
ASTN1	460	.	GRCh37	1	176999968	176999968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	72	0	ENST00000361833.2:c.986G>A	p.Arg329Lys	p.R329K	ENST00000361833		329	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS1319.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCTCTGG	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated_low_confidence(0.25)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Arg329Lys,ENST00000367654,;ASTN1,missense_variant,p.Arg329Lys,ENST00000424564,;ASTN1,missense_variant,p.Arg329Lys,ENST00000361833,;ASTN1,missense_variant,p.Arg329Lys,ENST00000367657,;MIR488,upstream_gene_variant,,ENST00000365739,;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	1000	72	76	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182922155	182922155	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	30	0	ENST00000367547.3:c.114del	p.Thr39ProfsTer2	p.T39Pfs*2	ENST00000367547	NM_030933.2	38	acC/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS30955.1	114	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGGTGGTCGC	NONE	.	.	hmmpanther:PTHR14695:SF7,hmmpanther:PTHR14695	.	.	ENSP00000356518	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000367547	Transcript	.	.	ENSG00000157060	16788	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	deletion	SHCBP1L,frameshift_variant,p.Thr39ProfsTer2,ENST00000367547,;SHCBP1L,upstream_gene_variant,,ENST00000423786,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;SHCBP1L,upstream_gene_variant,,ENST00000467208,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	351	30	44	SUCCESS
DIEXF	0	.	GRCh37	1	210015748	210015748	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	48	0	ENST00000491415.2:c.1624A>G	p.Ile542Val	p.I542V	ENST00000491415	NM_014388.6	542	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1493.1	1624	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGATCAAC	NONE	.	.	hmmpanther:PTHR12933,Pfam_domain:PF06862,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000419005	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000491415	Transcript	.	.	ENSG00000117597	28440	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(0.07)	.	DIEXF_HUMAN	DIEXF	HGNC	B3KVX2_HUMAN	.	UPI000006D987	SNV	DIEXF,missense_variant,p.Ile542Val,ENST00000491415,;DIEXF,missense_variant,p.Ile223Val,ENST00000457820,;	1681	48	103	SUCCESS
ARID1A	8289	.	GRCh37	1	27101142	27101142	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	36	0	ENST00000324856.7:c.4424A>C	p.Asn1475Thr	p.N1475T	ENST00000324856	NM_006015.4	1475	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS285.1	4424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAACATGC	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Asn1092Thr,ENST00000374152,;ARID1A,missense_variant,p.Asn372Thr,ENST00000430799,;ARID1A,missense_variant,p.Asn1475Thr,ENST00000324856,;ARID1A,intron_variant,,ENST00000457599,;ARID1A,intron_variant,,ENST00000540690,;ARID1A,intron_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;	4795	36	51	SUCCESS
KCNAB2	8514	.	GRCh37	1	6133803	6133803	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	42	1	ENST00000164247.1:c.174G>A	p.Val58=	p.V58=	ENST00000164247	NM_001199860.1	58	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55570.1	273	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGGTGACCTT	NONE	.	.	hmmpanther:PTHR11732:SF196,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,TIGRFAM_domain:TIGR01293,Superfamily_domains:SSF51430	.	.	ENSP00000367323	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000378083	Transcript	.	.	ENSG00000069424	6229	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCAB2_HUMAN	KCNAB2	HGNC	.	.	UPI000035E741	SNV	KCNAB2,synonymous_variant,p.%3D,ENST00000435937,;KCNAB2,synonymous_variant,p.%3D,ENST00000389632,;KCNAB2,synonymous_variant,p.%3D,ENST00000378083,;KCNAB2,synonymous_variant,p.%3D,ENST00000472700,;KCNAB2,synonymous_variant,p.%3D,ENST00000602612,;KCNAB2,synonymous_variant,p.%3D,ENST00000164247,;KCNAB2,synonymous_variant,p.%3D,ENST00000428161,;KCNAB2,synonymous_variant,p.%3D,ENST00000341524,;KCNAB2,synonymous_variant,p.%3D,ENST00000378092,;KCNAB2,synonymous_variant,p.%3D,ENST00000378111,;KCNAB2,synonymous_variant,p.%3D,ENST00000378097,;KCNAB2,synonymous_variant,p.%3D,ENST00000378087,;KCNAB2,synonymous_variant,p.%3D,ENST00000352527,;KCNAB2,5_prime_UTR_variant,,ENST00000458166,;KCNAB2,downstream_gene_variant,,ENST00000445501,;KCNAB2,non_coding_transcript_exon_variant,,ENST00000478098,;	562	43	48	SUCCESS
DEPDC1	55635	.	GRCh37	1	68954709	68954709	+	synonymous_variant	Silent	SNP	G	G	A	rs561724598	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	35	197	1	ENST00000456315.2:c.480C>T	p.Gly160=	p.G160=	ENST00000456315	NM_001114120.1	160	ggC/ggT	0	.	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS44159.1	480	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGCCATT	NONE	by1000G	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12,Gene3D:1.10.10.10	A:0	.	ENSP00000412292	A:0.001	4/12	.	.	.	.	.	.	.	.	rs561724598	4/12	PASS	ENST00000456315	Transcript	.	A:0.0002	ENSG00000024526	22949	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	SNV	DEPDC1,synonymous_variant,p.%3D,ENST00000456315,;DEPDC1,synonymous_variant,p.%3D,ENST00000370966,;DEPDC1,5_prime_UTR_variant,,ENST00000525124,;DEPDC1,synonymous_variant,p.%3D,ENST00000489862,;	595	199	249	SUCCESS
PRND	23627	.	GRCh37	20	4705195	4705195	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs200611031	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	42	0	ENST00000305817.2:c.-3G>T		p.*1*	ENST00000305817	NM_012409.2			0	A:0.0023	A:0.0038	.	A:0.0014	.	T	.	protein_coding	YES	CCDS13081.1	.	MUTECT|MUSE	.	CTGACGCGATG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000306900	A:0	2/2	.	.	.	.	.	.	.	.	rs200611031	2/2	PASS	ENST00000305817	Transcript	.	A:0.0012	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,5_prime_UTR_variant,,ENST00000305817,;	69	42	49	SUCCESS
MRGBP	55257	.	GRCh37	20	61429990	61429990	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	74	1	ENST00000370487.3:c.322C>A	p.Pro108Thr	p.P108T	ENST00000370487	NM_018270.4	108	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS13503.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCCAGAA	NONE	.	.	hmmpanther:PTHR13581,hmmpanther:PTHR13581:SF4,Pfam_domain:PF07904	.	.	ENSP00000359518	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000370487	Transcript	.	.	ENSG00000101189	15866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	MRGBP_HUMAN	MRGBP	HGNC	A8C4L5_HUMAN	.	UPI0000049FC0	SNV	MRGBP,missense_variant,p.Pro108Thr,ENST00000370487,;OGFR-AS1,downstream_gene_variant,,ENST00000431361,;	393	75	100	SUCCESS
TST	7263	.	GRCh37	22	37414605	37414605	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	33	0	ENST00000249042.3:c.169T>C	p.Ser57Pro	p.S57P	ENST00000249042	NM_003312.5	57	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS13938.1	169	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAGGCGC	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR11364,hmmpanther:PTHR11364:SF6,PROSITE_patterns:PS00380,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821	.	.	ENSP00000385828	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000403892	Transcript	.	.	ENSG00000128311	12388	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	tolerated(0.11)	.	THTR_HUMAN	TST	HGNC	B1AH48_HUMAN	.	UPI0000167B82	SNV	TST,missense_variant,p.Ser57Pro,ENST00000438203,;TST,missense_variant,p.Ser57Pro,ENST00000403892,;TST,missense_variant,p.Ser57Pro,ENST00000249042,;MPST,upstream_gene_variant,,ENST00000404393,;MPST,upstream_gene_variant,,ENST00000397129,;MPST,upstream_gene_variant,,ENST00000404802,;MPST,upstream_gene_variant,,ENST00000341116,;MPST,upstream_gene_variant,,ENST00000401419,;MPST,upstream_gene_variant,,ENST00000397225,;MPST,upstream_gene_variant,,ENST00000429360,;MPST,upstream_gene_variant,,ENST00000485587,;	904	33	37	SUCCESS
APOB	338	.	GRCh37	2	21229859	21229859	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	19	124	2	ENST00000233242.1:c.9881C>A	p.Ser3294Ter	p.S3294*	ENST00000233242	NM_000384.2	3294	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS1703.1	9881	RADIA|VARSCANS	.	TGTATGAAGGC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	COSM3577174	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,stop_gained,p.Ser3294Ter,ENST00000233242,;	10009	126	153	SUCCESS
SLC4A5	57835	.	GRCh37	2	74482906	74482906	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	27	0	ENST00000346834.4:c.1021A>T	p.Thr341Ser	p.T341S	ENST00000346834		341	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1936.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTGGGGA	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834,Gene3D:1hynR00,Superfamily_domains:SSF55804,Prints_domain:PR01231	.	.	ENSP00000366861	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000377634	Transcript	.	.	ENSG00000188687	18168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	tolerated(0.22)	.	S4A5_HUMAN	SLC4A5	HGNC	Q9UDR3_HUMAN,Q53S35_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN	.	UPI000013C97B	SNV	SLC4A5,missense_variant,p.Thr341Ser,ENST00000377632,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000425249,;SLC4A5,missense_variant,p.Thr277Ser,ENST00000359484,;SLC4A5,missense_variant,p.Thr277Ser,ENST00000358683,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000423644,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000394019,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000346834,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000377634,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000357822,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;SLC4A5,upstream_gene_variant,,ENST00000479776,;	1421	27	36	SUCCESS
AADAC	13	.	GRCh37	3	151545468	151545468	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	19	104	0	ENST00000232892.7:c.708A>G	p.Ser236=	p.S236=	ENST00000232892	NM_001086.2	236	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33877.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAAATTT	NONE	.	.	hmmpanther:PTHR23024:SF97,hmmpanther:PTHR23024,Gene3D:3.40.50.1820,Pfam_domain:PF07859,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	.	.	ENSP00000232892	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000232892	Transcript	.	.	ENSG00000114771	17	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAAD_HUMAN	AADAC	HGNC	.	.	UPI000006D992	SNV	AADAC,synonymous_variant,p.%3D,ENST00000232892,;AADAC,downstream_gene_variant,,ENST00000488869,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;	834	104	114	SUCCESS
ACVR2B	93	.	GRCh37	3	38519668	38519668	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	26	0	ENST00000352511.4:c.407T>C	p.Leu136Pro	p.L136P	ENST00000352511	NM_001106.3	136	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS2679.1	407	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTCACGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57	.	.	ENSP00000340361	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000352511	Transcript	.	.	ENSG00000114739	174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.61)	.	tolerated(0.15)	.	AVR2B_HUMAN	ACVR2B	HGNC	Q71UM3_HUMAN,Q4VAU9_HUMAN	.	UPI00001AF0AE	SNV	ACVR2B,missense_variant,p.Leu136Pro,ENST00000352511,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;	879	26	38	SUCCESS
ZNF197	10168	.	GRCh37	3	44673680	44673680	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	43	1	ENST00000344387.4:c.634C>T	p.Gln212Ter	p.Q212*	ENST00000344387	NM_006991.3	212	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS2717.1	634	MUTECT|VARSCANS	.	CAGCCCAGCCC	NONE	.	.	Superfamily_domains:0044637	.	.	ENSP00000379370	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000396058	Transcript	.	.	ENSG00000186448	12988	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN197_HUMAN	ZNF197	HGNC	C9JQH5_HUMAN	.	UPI000013C317	SNV	ZNF197,stop_gained,p.Gln212Ter,ENST00000396058,;ZNF197,stop_gained,p.Gln212Ter,ENST00000383745,;ZNF197,stop_gained,p.Gln212Ter,ENST00000344387,;ZNF197,stop_gained,p.Gln212Ter,ENST00000383744,;ZNF197,downstream_gene_variant,,ENST00000412641,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,3_prime_UTR_variant,,ENST00000334075,;	801	44	45	SUCCESS
PSMD6	9861	.	GRCh37	3	64005107	64005107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	79	1	ENST00000295901.4:c.362T>A	p.Leu121Gln	p.L121Q	ENST00000295901	NM_014814.2	121	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2901.1	362	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCAGAGCT	NONE	.	.	hmmpanther:PTHR14145:SF1,hmmpanther:PTHR14145,Pfam_domain:PF10602,Superfamily_domains:SSF48452	.	.	ENSP00000295901	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000295901	Transcript	.	.	ENSG00000163636	9564	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.616)	.	deleterious(0.01)	.	PSMD6_HUMAN	PSMD6	HGNC	.	.	UPI0000132787	SNV	PSMD6,missense_variant,p.Leu135Gln,ENST00000497323,;PSMD6,missense_variant,p.Leu83Gln,ENST00000394431,;PSMD6,missense_variant,p.Leu174Gln,ENST00000492933,;PSMD6,missense_variant,p.Leu82Gln,ENST00000482510,;PSMD6,missense_variant,p.Leu121Gln,ENST00000295901,;PSMD6,missense_variant,p.Leu142Gln,ENST00000478185,;PSMD6,upstream_gene_variant,,ENST00000480205,;RP11-245J9.6,upstream_gene_variant,,ENST00000605919,;RP11-245J9.4,downstream_gene_variant,,ENST00000462717,;PSMD6,non_coding_transcript_exon_variant,,ENST00000476464,;PSMD6,non_coding_transcript_exon_variant,,ENST00000475036,;PSMD6,upstream_gene_variant,,ENST00000497315,;PSMD6,upstream_gene_variant,,ENST00000467853,;	503	80	84	SUCCESS
YIPF7	285525	.	GRCh37	4	44626734	44626734	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	42	149	2	ENST00000332990.5:c.564C>T	p.Ala188=	p.A188=	ENST00000332990	NM_182592.2	188	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54766.1	564	RADIA|SOMATICSNIPER|VARSCANS	.	AGCAAGGCATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21236:SF5,hmmpanther:PTHR21236,Pfam_domain:PF04893	.	.	ENSP00000332772	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000332990	Transcript	.	.	ENSG00000177752	26825	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	YIPF7_HUMAN	YIPF7	HGNC	.	.	UPI00015347BF	SNV	YIPF7,synonymous_variant,p.%3D,ENST00000415895,;YIPF7,synonymous_variant,p.%3D,ENST00000332990,;YIPF7,downstream_gene_variant,,ENST00000510035,;YIPF7,downstream_gene_variant,,ENST00000502794,;	581	151	193	SUCCESS
CDS1	1040	.	GRCh37	4	85540553	85540553	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	88	0	ENST00000295887.5:c.447T>C	p.Phe149=	p.F149=	ENST00000295887	NM_001263.3	149	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS3608.1	447	RADIA|MUTECT|MUSE|VARSCANS	.	TACTTTCTATT	NONE	.	.	Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF018269,Pfam_domain:PF01148,hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF5	.	.	ENSP00000295887	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000295887	Transcript	.	.	ENSG00000163624	1800	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDS1_HUMAN	CDS1	HGNC	.	.	UPI0000127453	SNV	CDS1,synonymous_variant,p.%3D,ENST00000295887,;CDS1,3_prime_UTR_variant,,ENST00000511298,;	870	88	98	SUCCESS
SEC24A	10802	.	GRCh37	5	133997208	133997208	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763123489	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	85	0	ENST00000398844.2:c.497G>T	p.Ser166Ile	p.S166I	ENST00000398844	NM_021982.2	166	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43363.1	497	RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGTTTAA	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1	.	.	ENSP00000381823	.	2/23	.	.	.	.	.	.	.	.	rs763123489	2/23	PASS	ENST00000398844	Transcript	.	.	ENSG00000113615	10703	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.08)	.	SC24A_HUMAN	SEC24A	HGNC	.	.	UPI0000185FF9	SNV	SEC24A,missense_variant,p.Ser166Ile,ENST00000322887,;SEC24A,missense_variant,p.Ser166Ile,ENST00000398844,;	785	85	106	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140792839	140792839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753942667	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	58	0	ENST00000398610.2:c.97C>T	p.Arg33Trp	p.R33W	ENST00000398610	NM_018913.2	33	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS47292.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCGGCAG	NONE	byFrequency	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	rs753942667	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious_low_confidence(0)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Arg33Trp,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	97	58	71	SUCCESS
GEMIN5	25929	.	GRCh37	5	154311018	154311018	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs753962116	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	49	0	ENST00000285873.7:c.781G>A	p.Gly261Arg	p.G261R	ENST00000285873	NM_001252156.1	261	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4330.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTCGGC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000285873	.	5/28	.	.	.	.	.	.	.	.	rs753962116,COSM1064802	5/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	.	deleterious(0.04)	0,1	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,missense_variant,p.Gly261Arg,ENST00000285873,;GEMIN5,splice_region_variant,,ENST00000523355,;	857	49	86	SUCCESS
MED23	9439	.	GRCh37	6	131924170	131924170	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	66	1	ENST00000368068.3:c.1931G>A	p.Cys644Tyr	p.C644Y	ENST00000368068	NM_004830.3	644	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS5147.1	1931	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CTCACCAAAGA	NONE	.	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,missense_variant,p.Cys285Tyr,ENST00000545957,;MED23,missense_variant,p.Cys644Tyr,ENST00000368068,;MED23,missense_variant,p.Cys650Tyr,ENST00000354577,;MED23,missense_variant,p.Cys650Tyr,ENST00000403834,;MED23,missense_variant,p.Cys644Tyr,ENST00000368060,;MED23,missense_variant,p.Cys650Tyr,ENST00000540546,;MED23,missense_variant,p.Cys650Tyr,ENST00000368058,;MED23,missense_variant,p.Cys650Tyr,ENST00000368053,;MED23,splice_region_variant,,ENST00000539158,;	2111	67	82	SUCCESS
EYA4	2070	.	GRCh37	6	133846297	133846297	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	40	171	1	ENST00000367895.5:c.1744G>A	p.Glu582Lys	p.E582K	ENST00000367895	NM_004100.4	582	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5165.1	1744	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGAAAGT	NONE	.	.	hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF17,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01658	.	.	ENSP00000356870	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000367895	Transcript	.	.	ENSG00000112319	3522	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	deleterious(0)	.	EYA4_HUMAN	EYA4	HGNC	.	.	UPI000013D649	SNV	EYA4,missense_variant,p.Glu559Lys,ENST00000355286,;EYA4,missense_variant,p.Glu588Lys,ENST00000531901,;EYA4,missense_variant,p.Glu582Lys,ENST00000367895,;EYA4,intron_variant,,ENST00000430974,;EYA4,intron_variant,,ENST00000431403,;EYA4,intron_variant,,ENST00000355167,;EYA4,intron_variant,,ENST00000452339,;EYA4,intron_variant,,ENST00000525849,;RP3-323P13.2,intron_variant,,ENST00000607033,;	2208	172	232	SUCCESS
JARID2	3720	.	GRCh37	6	15452356	15452356	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1240260518	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	53	0	ENST00000341776.2:c.443C>G	p.Ser148Cys	p.S148C	ENST00000341776	NM_004973.3	148	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS4533.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCTAAAA	NONE	.	.	hmmpanther:PTHR10694	.	.	ENSP00000341280	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Ser110Cys,ENST00000541660,;JARID2,missense_variant,p.Ser148Cys,ENST00000341776,;JARID2,5_prime_UTR_variant,,ENST00000397311,;	687	53	66	SUCCESS
RUNX2	860	.	GRCh37	6	45390432	45390432	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs758173198	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	51	0	ENST00000371438.1:c.161A>C	p.Gln54Pro	p.Q54P	ENST00000371438	NM_001024630.3	54	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS43467.2	161	RADIA|MUTECT|MUSE|VARSCANS	.	GCAACAGCAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11950:SF7,hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374	.	.	ENSP00000360493	.	2/8	.	.	.	.	.	.	.	.	rs758173198	2/8	PASS	ENST00000371438	Transcript	.	.	ENSG00000124813	10472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated_low_confidence(0.31)	.	RUNX2_HUMAN	RUNX2	HGNC	U3RG86_HUMAN	.	UPI000013532F	SNV	RUNX2,missense_variant,p.Gln40Pro,ENST00000359524,;RUNX2,missense_variant,p.Gln122Pro,ENST00000352853,;RUNX2,missense_variant,p.Gln122Pro,ENST00000541979,;RUNX2,missense_variant,p.Gln54Pro,ENST00000371436,;RUNX2,missense_variant,p.Gln54Pro,ENST00000465038,;RUNX2,missense_variant,p.Gln54Pro,ENST00000576263,;RUNX2,missense_variant,p.Gln54Pro,ENST00000371438,;RUNX2,missense_variant,p.Gln40Pro,ENST00000371432,;RP1-244F24.1,upstream_gene_variant,,ENST00000606796,;RUNX2,missense_variant,p.Gln40Pro,ENST00000478660,;RUNX2,intron_variant,,ENST00000483377,;	519	51	67	SUCCESS
PUS7	54517	.	GRCh37	7	105121549	105121549	+	synonymous_variant	Silent	SNP	A	A	G	rs1402455916	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	20	88	0	ENST00000356362.2:c.1125T>C	p.Tyr375=	p.Y375=	ENST00000356362	NM_019042.3	375	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS34725.1	1125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCATAGTA	NONE	.	.	PROSITE_profiles:PS50984,hmmpanther:PTHR13326,TIGRFAM_domain:TIGR00094,Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,Superfamily_domains:SSF55120	.	.	ENSP00000348722	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000356362	Transcript	.	.	ENSG00000091127	26033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUS7_HUMAN	PUS7	HGNC	A3R6R7_HUMAN	.	UPI00001D483E	SNV	PUS7,synonymous_variant,p.%3D,ENST00000356362,;PUS7,synonymous_variant,p.%3D,ENST00000469408,;PUS7,synonymous_variant,p.%3D,ENST00000481939,;	1340	88	113	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117398014	117398014	+	synonymous_variant	Silent	SNP	C	C	T	rs747361472	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	35	0	ENST00000160373.3:c.3183G>A	p.Pro1061=	p.P1061=	ENST00000160373	NM_033427.2	1061	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5774.1	3183	RADIA|MUTECT|MUSE|VARSCANS	.	GACCACGGCAC	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	11/23	.	.	.	.	.	.	.	.	rs747361472,COSM1447513	11/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,synonymous_variant,p.%3D,ENST00000435233,;CTTNBP2,synonymous_variant,p.%3D,ENST00000446636,;CTTNBP2,synonymous_variant,p.%3D,ENST00000160373,;CTTNBP2,synonymous_variant,p.%3D,ENST00000416239,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,non_coding_transcript_exon_variant,,ENST00000482124,;CTTNBP2,downstream_gene_variant,,ENST00000467088,;	3275	35	41	SUCCESS
AKR1B1	231	.	GRCh37	7	134143873	134143873	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	44	1	ENST00000285930.4:c.-59G>T		p.*20*	ENST00000285930	NM_001628.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5831.1	.	MUTECT|MUSE|VARSCANS	.	GCGTACCTTTA	NONE	.	.	.	.	.	ENSP00000285930	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000285930	Transcript	.	.	ENSG00000085662	381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALDR_HUMAN	AKR1B1	HGNC	O15289_HUMAN	.	UPI000000D78E	SNV	AKR1B1,5_prime_UTR_variant,,ENST00000285930,;AKR1B1,splice_donor_variant,,ENST00000487438,;AKR1B1,splice_donor_variant,,ENST00000497983,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000489022,;AKR1B1,splice_donor_variant,,ENST00000491741,;AKR1B1,splice_donor_variant,,ENST00000467829,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000462784,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000484592,;AKR1B1,upstream_gene_variant,,ENST00000434222,;AKR1B1,upstream_gene_variant,,ENST00000465351,;AKR1B1,upstream_gene_variant,,ENST00000426422,;	22	45	42	SUCCESS
BMPER	168667	.	GRCh37	7	34014331	34014331	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1176480335	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	12	116	0	ENST00000297161.2:c.511G>A	p.Val171Met	p.V171M	ENST00000297161	NM_133468.4	171	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS5442.1	511	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTGTGCAG	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000297161	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.11)	.	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Val171Met,ENST00000297161,;BMPER,missense_variant,p.Val171Met,ENST00000426693,;BMPER,synonymous_variant,p.%3D,ENST00000436222,;	885	116	114	SUCCESS
PKD1L1	168507	.	GRCh37	7	47988020	47988020	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	39	0	ENST00000289672.2:c.18C>A	p.Ala6=	p.A6=	ENST00000289672	NM_138295.3	6	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34633.1	18	RADIA|MUSE	.	TTCTGGGCTGC	NONE	.	.	.	.	.	ENSP00000289672	.	1/57	.	.	.	.	.	.	.	.	.	1/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,synonymous_variant,p.%3D,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	69	39	25	SUCCESS
XKR6	286046	.	GRCh37	8	10782237	10782237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	22	0	ENST00000416569.2:c.868C>A	p.Leu290Met	p.L290M	ENST00000416569	NM_173683.3	290	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5978.2	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCAGCATGT	BUFFER|p.R291H|c.872G>A|4	.	.	hmmpanther:PTHR32129:SF7,hmmpanther:PTHR32129,Pfam_domain:PF09815	.	.	ENSP00000416707	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000416569	Transcript	.	.	ENSG00000171044	27806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	XKR6_HUMAN	XKR6	HGNC	.	.	UPI00004C7A9D	SNV	XKR6,missense_variant,p.Leu11Met,ENST00000304437,;XKR6,missense_variant,p.Leu290Met,ENST00000416569,;XKR6,missense_variant,p.Leu67Met,ENST00000382461,;	895	22	38	SUCCESS
CSMD3	114788	.	GRCh37	8	114031312	114031312	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	58	0	ENST00000297405.5:c.1014T>C	p.Phe338=	p.F338=	ENST00000297405	NM_198123.1	338	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS6315.1	1014	MUTECT|MUSE	.	GCACTAAATCC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	6/71	.	.	.	.	.	.	.	.	COSM251234	6/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;	1259	58	86	SUCCESS
C8orf82	414919	.	GRCh37	8	145753145	145753147	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	rs764721650	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	9	0	ENST00000524821.1:c.230_232del	p.Phe77del	p.F77del	ENST00000524821		77	tTCTcc/tcc	0	.	.	.	.	.	-	FS/S	protein_coding	YES	CCDS34970.1	230-232	INDELOCATOR|VARSCANI	.	GGCGGGAGAAGAAG	NONE	.	.	hmmpanther:PTHR31449,hmmpanther:PTHR31449:SF1,Pfam_domain:PF14956	.	.	ENSP00000436621	.	3/3	.	.	.	.	.	.	.	.	rs764721650	3/3	PASS	ENST00000524821	Transcript	.	.	ENSG00000213563	33826	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CH082_HUMAN	C8orf82	HGNC	.	.	UPI000006EE1C	deletion	C8orf82,inframe_deletion,p.Phe122del,ENST00000532827,;C8orf82,inframe_deletion,p.Phe77del,ENST00000524821,;C8orf82,3_prime_UTR_variant,,ENST00000313465,;ARHGAP39,downstream_gene_variant,,ENST00000276826,;LRRC24,upstream_gene_variant,,ENST00000529415,;LRRC24,upstream_gene_variant,,ENST00000533758,;C8orf82,downstream_gene_variant,,ENST00000527462,;ARHGAP39,downstream_gene_variant,,ENST00000540274,;LRRC14,downstream_gene_variant,,ENST00000292524,;ARHGAP39,downstream_gene_variant,,ENST00000377307,;LRRC14,downstream_gene_variant,,ENST00000528528,;LRRC14,downstream_gene_variant,,ENST00000530242,;LRRC14,downstream_gene_variant,,ENST00000529995,;C8orf82,inframe_deletion,p.Phe77del,ENST00000534680,;	446-448	9	16	SUCCESS
CSMD1	64478	.	GRCh37	8	2800063	2800063	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755659271	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	50	0	ENST00000537824.1:c.10466C>T	p.Ala3489Val	p.A3489V	ENST00000537824	NM_033225.5	3489	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS55189.1	10466	MUTECT|MUSE	.	CAGCCGCCACA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325	.	.	ENSP00000441462	.	69/70	.	.	.	.	.	.	.	.	rs755659271	69/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ala3313Val,ENST00000400186,;CSMD1,missense_variant,p.Ala3312Val,ENST00000542608,;CSMD1,missense_variant,p.Ala3313Val,ENST00000602723,;CSMD1,missense_variant,p.Ala2892Val,ENST00000335551,;CSMD1,missense_variant,p.Ala3489Val,ENST00000537824,;CSMD1,missense_variant,p.Ala3490Val,ENST00000602557,;CSMD1,missense_variant,p.Ala3490Val,ENST00000520002,;	10466	50	58	SUCCESS
ZNF630	57232	.	GRCh37	X	47919574	47919574	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782469504	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	73	1	ENST00000409324.3:c.257A>T	p.Glu86Val	p.E86V	ENST00000409324	NM_001037735.2	86	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS35237.2	257	RADIA|MUTECT|VARSCANS	.	AAGATTCAAGG	NONE	.	.	hmmpanther:PTHR24377:SF216,hmmpanther:PTHR24377	.	.	ENSP00000386393	.	5/5	.	.	.	.	.	.	.	.	rs782469504	5/5	PASS	ENST00000409324	Transcript	.	.	ENSG00000221994	28855	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.065)	.	deleterious(0)	.	ZN630_HUMAN	ZNF630	HGNC	B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN	.	UPI0000160BE4	SNV	ZNF630,missense_variant,p.Glu86Val,ENST00000428686,;ZNF630,missense_variant,p.Glu86Val,ENST00000409324,;ZNF630,missense_variant,p.Glu72Val,ENST00000442455,;ZNF630,5_prime_UTR_variant,,ENST00000421903,;ZNF630,5_prime_UTR_variant,,ENST00000276054,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,intron_variant,,ENST00000428463,;	484	74	71	SUCCESS
CLCN5	1184	.	GRCh37	X	49853423	49853444	+	frameshift_variant	Frame_Shift_Del	DEL	AATGGAACAGCTGGCTTATTAC	AATGGAACAGCTGGCTTATTAC	-	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	AATGGAACAGCTGGCTTATTAC	AATGGAACAGCTGGCTTATTAC	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	93	0	ENST00000307367.2:c.1416_1437del	p.Met473ThrfsTer32	p.M473Tfs*32	ENST00000307367		472	ggAATGGAACAGCTGGCTTATTAC/gg	0	.	.	.	.	.	-	GMEQLAYY/X	protein_coding	YES	CCDS48115.1	1626-1647	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTAGGAATGGAACAGCTGGCTTATTACCACCA	NONE	.	.	Superfamily_domains:SSF81340,Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689	.	.	ENSP00000365256	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000376088	Transcript	.	.	ENSG00000171365	2023	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLCN5_HUMAN	CLCN5	HGNC	.	.	UPI0000212052	deletion	CLCN5,frameshift_variant,p.Met473ThrfsTer32,ENST00000307367,;CLCN5,frameshift_variant,p.Met543ThrfsTer32,ENST00000376091,;CLCN5,frameshift_variant,p.Met473ThrfsTer32,ENST00000376108,;CLCN5,frameshift_variant,p.Met543ThrfsTer32,ENST00000376088,;	2267-2288	93	74	SUCCESS
AR	367	.	GRCh37	X	66765514	66765516	+	frameshift_variant	Frame_Shift_Del	DEL	AGC	AGC	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	AGC	AGC	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	40	0	ENST00000374690.3:c.526_528delinsT	p.Ser176LeufsTer4	p.S176Lfs*4	ENST00000374690	NM_000044.3	176	AGC/T	0	.	.	.	.	.	T	S/X	protein_coding	YES	CCDS14387.1	526-528	VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTAAGCAGCTGCTC	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084,Pfam_domain:PF02166,Prints_domain:PR00521	.	.	ENSP00000363822	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	substitution	AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000504326,;AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000396044,;AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000374690,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000514029,;	1050-1052	40	61	SUCCESS
KIAA2022	0	.	GRCh37	X	73960186	73960186	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	38	0	ENST00000055682.6:c.4206T>C	p.Asn1402=	p.N1402=	ENST00000055682	NM_001008537.2	1402	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS35337.1	4206	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATTGCT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,synonymous_variant,p.%3D,ENST00000055682,;KIAA2022,synonymous_variant,p.%3D,ENST00000424929,;	4818	38	71	SUCCESS
CAMK1D	57118	.	GRCh37	10	12391854	12391854	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs1273699119	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	37	137	0	ENST00000378847.3:c.41del	p.Lys14SerfsTer26	p.K14Sfs*26	ENST00000378847	NM_153498.2	13	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS7091.1	37	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTGGAAAAAG	NONE	.	.	hmmpanther:PTHR24347:SF116,hmmpanther:PTHR24347,Gene3D:3.30.200.20	.	.	ENSP00000368124	.	1/11	.	.	.	.	.	.	.	.	.	1/11	nonpreferredpair	ENST00000378847	Transcript	.	.	ENSG00000183049	19341	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCC1D_HUMAN	CAMK1D	HGNC	.	.	UPI000003CA33	deletion	CAMK1D,frameshift_variant,p.Lys14SerfsTer26,ENST00000378845,;CAMK1D,frameshift_variant,p.Lys14SerfsTer26,ENST00000378847,;CAMK1D,non_coding_transcript_exon_variant,,ENST00000487696,;	374	137	196	SUCCESS
CHST15	51363	.	GRCh37	10	125804199	125804199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	38	0	ENST00000346248.5:c.783G>T	p.Gln261His	p.Q261H	ENST00000346248	NM_015892.4	261	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7638.1	783	RADIA|VARSCANS	.	TTGGGCTGCCC	NONE	.	.	hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333947	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000346248	Transcript	.	.	ENSG00000182022	18137	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CHSTF_HUMAN	CHST15	HGNC	.	.	UPI000004D06B	SNV	CHST15,missense_variant,p.Gln261His,ENST00000421115,;CHST15,missense_variant,p.Gln261His,ENST00000435907,;CHST15,missense_variant,p.Gln261His,ENST00000346248,;CHST15,downstream_gene_variant,,ENST00000462406,;	1426	38	36	SUCCESS
ITIH2	3698	.	GRCh37	10	7765447	7765447	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs755089669	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	19	115	0	ENST00000358415.4:c.902del	p.Pro301LeufsTer17	p.P301Lfs*17	ENST00000358415	NM_002216.2	301	Cct/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS31141.1	901	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGCTCCTGAC	NONE	byFrequency	.	hmmpanther:PTHR10338:SF14,hmmpanther:PTHR10338,Superfamily_domains:SSF53300	.	.	ENSP00000351190	.	9/21	.	.	.	.	.	.	.	.	rs755089669	9/21	nonpreferredpair	ENST00000358415	Transcript	.	.	ENSG00000151655	6167	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITIH2_HUMAN	ITIH2	HGNC	.	.	UPI000036665E	deletion	ITIH2,frameshift_variant,p.Pro290LeufsTer17,ENST00000379587,;ITIH2,frameshift_variant,p.Pro301LeufsTer17,ENST00000358415,;ITIH2,downstream_gene_variant,,ENST00000429820,;ITIH2,downstream_gene_variant,,ENST00000480387,;	1067	115	149	SUCCESS
LRIT1	26103	.	GRCh37	10	85997395	85997395	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1589324309	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	20	0	ENST00000372105.3:c.170T>C	p.Ile57Thr	p.I57T	ENST00000372105	NM_015613.2	57	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS7373.1	170	MUTECT|MUSE	.	GGGGGATGGAC	NONE	.	.	.	.	.	ENSP00000361177	.	2/4	.	.	.	.	.	.	.	.	COSM3983798	2/4	nonpreferredpair	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.272)	.	deleterious(0.01)	1	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Ile57Thr,ENST00000372105,;	192	20	22	SUCCESS
SLC22A8	9376	.	GRCh37	11	62782428	62782428	+	start_lost	Translation_Start_Site	SNP	C	C	T	.	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	28	0	ENST00000336232.2:c.3G>A	p.Met1?	p.M1?	ENST00000336232	NM_001184736.1	1	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS8042.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCATGGC	NONE	.	.	.	.	.	ENSP00000337335	.	2/11	.	.	.	.	.	.	.	.	COSM689813	2/11	nonpreferredpair	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.985)	.	deleterious(0)	1	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,start_lost,p.Met1?,ENST00000336232,;SLC22A8,start_lost,p.Met1?,ENST00000430500,;SLC22A8,start_lost,p.Met1?,ENST00000311438,;SLC22A8,intron_variant,,ENST00000535878,;SLC22A8,intron_variant,,ENST00000545207,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000544707,;	139	28	33	SUCCESS
PITPNM1	9600	.	GRCh37	11	67261260	67261260	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	62	0	ENST00000356404.3:c.3057C>A	p.Gly1019=	p.G1019=	ENST00000356404	NM_001130848.1	1019	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31620.1	3057	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGCCGCG	NONE	.	.	hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40	.	.	ENSP00000348772	.	21/24	.	.	.	.	.	.	.	.	.	21/24	nonpreferredpair	ENST00000356404	Transcript	.	.	ENSG00000110697	9003	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PITM1_HUMAN	PITPNM1	HGNC	E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN	.	UPI00001FAD31	SNV	PITPNM1,synonymous_variant,p.%3D,ENST00000436757,;PITPNM1,synonymous_variant,p.%3D,ENST00000356404,;PITPNM1,synonymous_variant,p.%3D,ENST00000534749,;AIP,downstream_gene_variant,,ENST00000528641,;AIP,downstream_gene_variant,,ENST00000279146,;AIP,downstream_gene_variant,,ENST00000525341,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000526602,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;AIP,downstream_gene_variant,,ENST00000529797,;	3283	62	50	SUCCESS
OR2AG2	338755	.	GRCh37	11	6789560	6789560	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	67	0	ENST00000338569.2:c.629C>T	p.Pro210Leu	p.P210L	ENST00000338569	NM_001004490.1	210	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31413.1	629	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGGGAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF107,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342697	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000338569	Transcript	.	.	ENSG00000188124	15143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.119)	.	deleterious(0.01)	.	O2AG2_HUMAN	OR2AG2	HGNC	.	.	UPI0000041C10	SNV	OR2AG2,missense_variant,p.Pro210Leu,ENST00000338569,;	727	68	57	SUCCESS
KCTD21	283219	.	GRCh37	11	77885144	77885144	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	39	0	ENST00000340067.3:c.457T>G	p.Cys153Gly	p.C153G	ENST00000340067	NM_001029859.1	153	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS31645.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGGAGG	NONE	.	.	hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF57	.	.	ENSP00000339340	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000340067	Transcript	.	.	ENSG00000188997	27452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.57)	.	KCD21_HUMAN	KCTD21	HGNC	E9PRT1_HUMAN,E9PMS5_HUMAN,E9PM10_HUMAN,E9PK99_HUMAN,E9PJJ5_HUMAN	.	UPI000016193F	SNV	KCTD21,missense_variant,p.Cys153Gly,ENST00000340067,;KCTD21,missense_variant,p.Cys153Gly,ENST00000526208,;KCTD21,downstream_gene_variant,,ENST00000525447,;KCTD21,downstream_gene_variant,,ENST00000530018,;KCTD21,downstream_gene_variant,,ENST00000528776,;KCTD21,downstream_gene_variant,,ENST00000529350,;KCTD21-AS1,non_coding_transcript_exon_variant,,ENST00000600795,;KCTD21-AS1,downstream_gene_variant,,ENST00000530261,;KCTD21-AS1,downstream_gene_variant,,ENST00000528468,;KCTD21-AS1,downstream_gene_variant,,ENST00000523626,;	736	39	34	SUCCESS
WEE1	7465	.	GRCh37	11	9597784	9597784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	19	144	0	ENST00000450114.2:c.790G>A	p.Gly264Ser	p.G264S	ENST00000450114	NM_003390.3	264	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7800.1	790	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGGTGAA	NONE	.	.	hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,PIRSF_domain:PIRSF037281	.	.	ENSP00000402084	.	3/11	.	.	.	.	.	.	.	.	.	3/11	nonpreferredpair	ENST00000450114	Transcript	.	.	ENSG00000166483	12761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.12)	.	WEE1_HUMAN	WEE1	HGNC	E9PRU3_HUMAN	.	UPI0000138EF4	SNV	WEE1,missense_variant,p.Gly50Ser,ENST00000299613,;WEE1,missense_variant,p.Gly264Ser,ENST00000450114,;WEE1,upstream_gene_variant,,ENST00000524612,;WEE1,upstream_gene_variant,,ENST00000530712,;snoU13,upstream_gene_variant,,ENST00000458785,;RN7SL56P,upstream_gene_variant,,ENST00000470034,;WEE1,non_coding_transcript_exon_variant,,ENST00000524549,;	1043	144	137	SUCCESS
MYBPC1	4604	.	GRCh37	12	102076403	102076403	+	intron_variant	Intron	SNP	C	C	T	rs1351132907	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	29	106	0	ENST00000550270.1:c.3413-1757C>T		p.*1138*	ENST00000550270		1145		0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS58268.1	3434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACCCCTG	NONE	.	.	hmmpanther:PTHR19900:SF43,hmmpanther:PTHR19900	.	.	ENSP00000400908	.	29/30	.	.	.	.	.	.	.	.	.	29/30	nonpreferredpair	ENST00000452455	Transcript	.	.	ENSG00000196091	7549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated_low_confidence(0.22)	.	MYPC1_HUMAN	MYBPC1	HGNC	F8W1Z9_HUMAN	.	UPI0001AE6B26	SNV	MYBPC1,missense_variant,p.Thr1108Ile,ENST00000536007,;MYBPC1,missense_variant,p.Thr1101Ile,ENST00000547405,;MYBPC1,missense_variant,p.Thr1152Ile,ENST00000361466,;MYBPC1,missense_variant,p.Thr1145Ile,ENST00000452455,;MYBPC1,missense_variant,p.Thr1127Ile,ENST00000545503,;MYBPC1,missense_variant,p.Thr1145Ile,ENST00000441232,;MYBPC1,missense_variant,p.Thr1113Ile,ENST00000547509,;MYBPC1,missense_variant,p.Thr1115Ile,ENST00000541119,;MYBPC1,intron_variant,,ENST00000550270,;MYBPC1,intron_variant,,ENST00000361685,;MYBPC1,intron_variant,,ENST00000551300,;MYBPC1,intron_variant,,ENST00000549145,;MYBPC1,intron_variant,,ENST00000392934,;MYBPC1,intron_variant,,ENST00000553190,;MYBPC1,intron_variant,,ENST00000360610,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000550501,;MYBPC1,intron_variant,,ENST00000549608,;	3536	106	131	SUCCESS
OVCH1	341350	.	GRCh37	12	29598311	29598311	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	84	1	ENST00000318184.5:c.2781C>A	p.Tyr927Ter	p.Y927*	ENST00000318184	NM_183378.2	927	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	.	2781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGAGTAAAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000326708	.	23/28	.	.	.	.	.	.	.	.	.	23/28	nonpreferredpair	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,stop_gained,p.Tyr927Ter,ENST00000318184,;OVCH1-AS1,intron_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1,upstream_gene_variant,,ENST00000537054,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1,upstream_gene_variant,,ENST00000539117,;	2781	85	85	SUCCESS
PDZRN4	29951	.	GRCh37	12	41966174	41966174	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	73	0	ENST00000402685.2:c.1593G>A	p.Lys531=	p.K531=	ENST00000402685	NM_001164595.1	531	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS53777.1	1593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGCAAGA	NONE	.	.	hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,Low_complexity_(Seg):seg	.	.	ENSP00000384197	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,synonymous_variant,p.%3D,ENST00000298919,;PDZRN4,synonymous_variant,p.%3D,ENST00000539469,;PDZRN4,synonymous_variant,p.%3D,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	1601	73	73	SUCCESS
SP7	121340	.	GRCh37	12	53722106	53722106	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758338010	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	43	0	ENST00000303846.3:c.1120C>T	p.Arg374Cys	p.R374C	ENST00000303846	NM_152860.1	374	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS44897.1	1120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCGCTGGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF12,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000443827	.	3/3	.	.	.	.	.	.	.	.	rs758338010	3/3	nonpreferredpair	ENST00000536324	Transcript	.	.	ENSG00000170374	17321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	SP7_HUMAN	SP7	HGNC	F8VV67_HUMAN	.	UPI000000D7AE	SNV	SP7,missense_variant,p.Arg356Cys,ENST00000537210,;SP7,missense_variant,p.Arg374Cys,ENST00000536324,;SP7,missense_variant,p.Arg374Cys,ENST00000303846,;AAAS,upstream_gene_variant,,ENST00000550286,;SP7,downstream_gene_variant,,ENST00000547755,;AAAS,upstream_gene_variant,,ENST00000548258,;AAAS,upstream_gene_variant,,ENST00000551724,;	1404	43	40	SUCCESS
IL23A	51561	.	GRCh37	12	56733526	56733526	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	69	0	ENST00000228534.4:c.313G>C	p.Gly105Arg	p.G105R	ENST00000228534	NM_016584.2	105	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS8916.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTAGGATCG	NONE	.	.	hmmpanther:PTHR15947,Gene3D:1.20.1250.10,Pfam_domain:PF00489,Superfamily_domains:SSF47266	.	.	ENSP00000228534	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000228534	Transcript	.	.	ENSG00000110944	15488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	IL23A_HUMAN	IL23A	HGNC	.	.	UPI0000034E42	SNV	IL23A,missense_variant,p.Gly105Arg,ENST00000228534,;STAT2,downstream_gene_variant,,ENST00000557235,;STAT2,downstream_gene_variant,,ENST00000314128,;STAT2,downstream_gene_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000555488,;	479	69	51	SUCCESS
CHD4	1108	.	GRCh37	12	6690892	6690892	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	107	0	ENST00000357008.2:c.4604C>T	p.Ser1535Leu	p.S1535L	ENST00000357008	NM_001273.2	1535	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS8552.1	4604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGACCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554	.	.	ENSP00000349508	.	31/40	.	.	.	.	.	.	.	.	.	31/40	nonpreferredpair	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,missense_variant,p.Ser1528Leu,ENST00000544040,;CHD4,missense_variant,p.Ser1560Leu,ENST00000544484,;CHD4,missense_variant,p.Ser1563Leu,ENST00000309577,;CHD4,missense_variant,p.Ser1535Leu,ENST00000357008,;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,intron_variant,,ENST00000501075,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000542717,;CHD4,downstream_gene_variant,,ENST00000540960,;	4768	107	93	SUCCESS
DOCK9	23348	.	GRCh37	13	99550464	99550464	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs756583739	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	58	1	ENST00000376460.1:c.1555C>T	p.Gln519Ter	p.Q519*	ENST00000376460	NM_015296.2	519	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS45062.1	1555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGTCCTA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77	.	.	ENSP00000365643	.	14/57	.	.	.	.	.	.	.	.	rs756583739	14/57	nonpreferredpair	ENST00000376460	Transcript	.	.	ENSG00000088387	14132	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK9_HUMAN	DOCK9	HGNC	.	.	UPI000046FD7F	SNV	DOCK9,stop_gained,p.Gln519Ter,ENST00000376460,;DOCK9,stop_gained,p.Gln519Ter,ENST00000442173,;DOCK9,stop_gained,p.Gln520Ter,ENST00000339416,;DOCK9,stop_gained,p.Gln531Ter,ENST00000448493,;	1636	59	41	SUCCESS
ZNF839	55778	.	GRCh37	14	102807765	102807765	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs781429155	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	86	0	ENST00000558850.1:c.1685T>G	p.Leu562Arg	p.L562R	ENST00000558850	NM_001267827.1	562	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS45164.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTTCAGG	NONE	byFrequency	.	hmmpanther:PTHR16116	.	.	ENSP00000399863	.	8/8	.	.	.	.	.	.	.	.	rs781429155	8/8	nonpreferredpair	ENST00000442396	Transcript	.	.	ENSG00000022976	20345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.06)	.	ZN839_HUMAN	ZNF839	HGNC	H0YKY1_HUMAN,B3KWS2_HUMAN	.	UPI0001596890	SNV	ZNF839,missense_variant,p.Leu278Arg,ENST00000559155,;ZNF839,missense_variant,p.Leu226Arg,ENST00000561251,;ZNF839,missense_variant,p.Leu562Arg,ENST00000558850,;ZNF839,missense_variant,p.Leu562Arg,ENST00000559185,;ZNF839,missense_variant,p.Leu678Arg,ENST00000442396,;ZNF839,missense_variant,p.Leu564Arg,ENST00000262236,;ZNF839,intron_variant,,ENST00000558490,;ZNF839,intron_variant,,ENST00000560112,;ZNF839,intron_variant,,ENST00000558462,;ZNF839,downstream_gene_variant,,ENST00000560568,;AL137229.1,downstream_gene_variant,,ENST00000577622,;ZNF839,non_coding_transcript_exon_variant,,ENST00000420933,;ZNF839,3_prime_UTR_variant,,ENST00000559098,;ZNF839,non_coding_transcript_exon_variant,,ENST00000557803,;CINP,downstream_gene_variant,,ENST00000559514,;CINP,downstream_gene_variant,,ENST00000559504,;	2048	86	75	SUCCESS
SPTB	6710	.	GRCh37	14	65241980	65241980	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	40	0	ENST00000389721.5:c.4705C>T	p.Leu1569=	p.L1569=	ENST00000389721	NM_000347.5	1569	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32099.1	4705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGCCTGT	NONE	.	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	.	.	ENSP00000374372	.	22/35	.	.	.	.	.	.	.	.	.	22/35	nonpreferredpair	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,synonymous_variant,p.%3D,ENST00000389721,;SPTB,synonymous_variant,p.%3D,ENST00000556626,;SPTB,synonymous_variant,p.%3D,ENST00000553938,;SPTB,synonymous_variant,p.%3D,ENST00000389722,;SPTB,synonymous_variant,p.%3D,ENST00000542895,;SPTB,synonymous_variant,p.%3D,ENST00000389720,;	4759	40	39	SUCCESS
RPAP1	26015	.	GRCh37	15	41816168	41816168	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	39	0	ENST00000304330.4:c.2237A>G	p.Asp746Gly	p.D746G	ENST00000304330	NM_015540.2	746	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS10079.1	2237	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATCACTA	NONE	.	.	hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483	.	.	ENSP00000306123	.	17/25	.	.	.	.	.	.	.	.	.	17/25	nonpreferredpair	ENST00000304330	Transcript	.	.	ENSG00000103932	24567	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.39)	.	RPAP1_HUMAN	RPAP1	HGNC	H3BPY8_HUMAN,H3BPM3_HUMAN	.	UPI000013D465	SNV	RPAP1,missense_variant,p.Asp746Gly,ENST00000561603,;RPAP1,missense_variant,p.Asp137Gly,ENST00000565035,;RPAP1,missense_variant,p.Asp746Gly,ENST00000304330,;RPAP1,downstream_gene_variant,,ENST00000568413,;RPAP1,missense_variant,p.Asp746Gly,ENST00000562303,;RPAP1,splice_region_variant,,ENST00000561631,;RPAP1,upstream_gene_variant,,ENST00000565167,;RPAP1,upstream_gene_variant,,ENST00000564934,;	2354	39	53	SUCCESS
FBXL19	54620	.	GRCh37	16	30938694	30938694	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765511827	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	3	91	1	ENST00000380310.2:c.303G>T	p.Glu101Asp	p.E101D	ENST00000380310	NM_001099784.2	101	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45465.1	303	MUTECT|MUSE	.	GTGGAGGGAGA	NONE	byFrequency	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016	.	.	ENSP00000369666	.	3/11	.	.	.	.	.	.	.	.	rs765511827	3/11	nonpreferredpair	ENST00000380310	Transcript	.	.	ENSG00000099364	25300	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.585)	.	tolerated(0.13)	.	FXL19_HUMAN	FBXL19	HGNC	H3BVB1_HUMAN,H3BQP6_HUMAN,H3BPZ0_HUMAN	.	UPI00015C725E	SNV	FBXL19,missense_variant,p.Glu81Asp,ENST00000565690,;FBXL19,missense_variant,p.Glu36Asp,ENST00000427128,;FBXL19,missense_variant,p.Glu101Asp,ENST00000380310,;FBXL19,missense_variant,p.Glu81Asp,ENST00000562319,;FBXL19,missense_variant,p.Glu81Asp,ENST00000338343,;FBXL19,5_prime_UTR_variant,,ENST00000471231,;FBXL19,downstream_gene_variant,,ENST00000562798,;FBXL19-AS1,upstream_gene_variant,,ENST00000563777,;	461	92	63	SUCCESS
SALL1	6299	.	GRCh37	16	51173574	51173574	+	synonymous_variant	Silent	SNP	A	A	C	rs747035568	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	94	0	ENST00000251020.4:c.2559T>G	p.Ser853=	p.S853=	ENST00000251020	NM_002968.2	853	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS10747.1	2559	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAAGAGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	rs747035568	2/3	nonpreferredpair	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,synonymous_variant,p.%3D,ENST00000251020,;SALL1,synonymous_variant,p.%3D,ENST00000570206,;SALL1,synonymous_variant,p.%3D,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	2593	94	65	SUCCESS
PHLPP2	23035	.	GRCh37	16	71682851	71682851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	42	0	ENST00000568954.1:c.3914C>A	p.Pro1305His	p.P1305H	ENST00000568954		1305	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS32479.1	3914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAGGCTCG	NONE	.	.	.	.	.	ENSP00000457991	.	19/19	.	.	.	.	.	.	.	.	.	19/19	nonpreferredpair	ENST00000568954	Transcript	.	.	ENSG00000040199	29149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.01)	.	PHLP2_HUMAN	PHLPP2	HGNC	.	.	UPI0000229F5A	SNV	PHLPP2,missense_variant,p.Pro1340His,ENST00000567016,;PHLPP2,missense_variant,p.Pro1305His,ENST00000356272,;PHLPP2,missense_variant,p.Pro1305His,ENST00000568954,;PHLPP2,missense_variant,p.Pro1238His,ENST00000393524,;PHLPP2,intron_variant,,ENST00000360429,;PHLPP2,intron_variant,,ENST00000540628,;PHLPP2,intron_variant,,ENST00000568004,;PHLPP2,intron_variant,,ENST00000564884,;	4293	42	41	SUCCESS
SPG7	6687	.	GRCh37	16	89574985	89574985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	15	0	ENST00000268704.2:c.160G>A	p.Glu54Lys	p.E54K	ENST00000268704	NM_003119.2	54	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10977.1	160	RADIA|MUTECT|MUSE	.	TCGCCGAGGCT	NONE	.	.	HAMAP:MF_01458,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF47	.	.	ENSP00000268704	.	1/17	.	.	.	.	.	.	.	.	.	1/17	nonpreferredpair	ENST00000268704	Transcript	.	.	ENSG00000197912	11237	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.53)	.	SPG7_HUMAN	SPG7	HGNC	.	.	UPI0000031FAA	SNV	SPG7,missense_variant,p.Glu54Lys,ENST00000341316,;SPG7,missense_variant,p.Glu54Lys,ENST00000268704,;SPG7,intron_variant,,ENST00000566371,;SPG7,upstream_gene_variant,,ENST00000568151,;RP11-104N10.1,upstream_gene_variant,,ENST00000565623,;SPG7,non_coding_transcript_exon_variant,,ENST00000569363,;SPG7,intron_variant,,ENST00000563783,;	175	15	28	SUCCESS
MYH1	4619	.	GRCh37	17	10395803	10395803	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	110	0	ENST00000226207.5:c.5750C>T	p.Ala1917Val	p.A1917V	ENST00000226207	NM_005963.3	1917	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11155.1	5750	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGCAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000226207	.	40/40	.	.	.	.	.	.	.	.	.	40/40	nonpreferredpair	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Ala1917Val,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5845	110	113	SUCCESS
SLFN12L	100506736	.	GRCh37	17	33849543	33849543	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs118158191	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	30	166	0	ENST00000361112.4:c.-145C>T		p.*49*	ENST00000361112				0	.	A:0	.	A:0	.	A	.	protein_coding	.	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGAGCAA	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000354412	A:0.001	2/5	.	.	.	.	.	.	.	.	rs118158191	2/5	nonpreferredpair	ENST00000361112	Transcript	.	A:0.0002	ENSG00000205045	33920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SN12L_HUMAN	SLFN12L	HGNC	.	.	UPI000041A9FA	SNV	SLFN12L,5_prime_UTR_variant,,ENST00000361112,;	735	166	179	SUCCESS
KRT13	3860	.	GRCh37	17	39659628	39659628	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	37	0	ENST00000246635.3:c.646G>C	p.Asp216His	p.D216H	ENST00000246635	NM_153490.2	216	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS11396.1	646	MUTECT|MUSE|VARSCANS	.	CTCATCCAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000246635	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000246635	Transcript	.	.	ENSG00000171401	6415	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	K1C13_HUMAN	KRT13	HGNC	K7ERE3_HUMAN,K7EMD9_HUMAN	.	UPI000013CBF6	SNV	KRT13,missense_variant,p.Asp216His,ENST00000246635,;KRT13,missense_variant,p.Asp109His,ENST00000590425,;KRT13,missense_variant,p.Asp216His,ENST00000587544,;KRT13,missense_variant,p.Asp216His,ENST00000336861,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	693	37	37	SUCCESS
AATK	9625	.	GRCh37	17	79100253	79100253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	75	0	ENST00000326724.4:c.729C>A	p.His243Gln	p.H243Q	ENST00000326724	NM_001080395.2	243	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS45807.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTGCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000324196	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,missense_variant,p.His243Gln,ENST00000326724,;AATK,missense_variant,p.His140Gln,ENST00000417379,;AATK,downstream_gene_variant,,ENST00000575363,;MIR657,upstream_gene_variant,,ENST00000385003,;MIR338,downstream_gene_variant,,ENST00000390137,;AATK,non_coding_transcript_exon_variant,,ENST00000572339,;AATK,upstream_gene_variant,,ENST00000573441,;AATK,missense_variant,p.His243Gln,ENST00000374792,;AATK,non_coding_transcript_exon_variant,,ENST00000576053,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;	754	75	79	SUCCESS
FBXO15	201456	.	GRCh37	18	71749184	71749184	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs759134369	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	29	218	1	ENST00000419743.2:c.1241A>T	p.Asp414Val	p.D414V	ENST00000419743	NM_001142958.1	414	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS45884.1	1241	RADIA|MUTECT|MUSE|VARSCANS	.	AAATATCAGTT	NONE	.	.	hmmpanther:PTHR20995:SF16,hmmpanther:PTHR20995	.	.	ENSP00000393154	.	9/10	.	.	.	.	.	.	.	.	rs759134369	9/10	nonpreferredpair	ENST00000419743	Transcript	.	.	ENSG00000141665	13617	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.312)	.	deleterious(0)	.	FBX15_HUMAN	FBXO15	HGNC	J3QRE7_HUMAN	.	UPI00003CF23D	SNV	FBXO15,missense_variant,p.Asp414Val,ENST00000419743,;FBXO15,missense_variant,p.Asp338Val,ENST00000269500,;FBXO15,missense_variant,p.Asp83Val,ENST00000580088,;FBXO15,non_coding_transcript_exon_variant,,ENST00000580806,;FBXO15,non_coding_transcript_exon_variant,,ENST00000577575,;FBXO15,upstream_gene_variant,,ENST00000579108,;FBXO15,3_prime_UTR_variant,,ENST00000583443,;FBXO15,3_prime_UTR_variant,,ENST00000578399,;FBXO15,3_prime_UTR_variant,,ENST00000581214,;FBXO15,non_coding_transcript_exon_variant,,ENST00000584425,;	1321	219	214	SUCCESS
KEAP1	9817	.	GRCh37	19	10610300	10610300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	65	0	ENST00000171111.5:c.410T>C	p.Ile137Thr	p.I137T	ENST00000171111	NM_203500.1	137	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS12239.1	410	MUTECT|MUSE|VARSCANS	.	ATTCAATGAGG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.759)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Ile137Thr,ENST00000591419,;KEAP1,missense_variant,p.Ile137Thr,ENST00000591039,;KEAP1,missense_variant,p.Ile137Thr,ENST00000393623,;KEAP1,missense_variant,p.Ile137Thr,ENST00000171111,;KEAP1,missense_variant,p.Ile137Thr,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	958	65	48	SUCCESS
EPS15L1	58513	.	GRCh37	19	16545246	16545246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	58	0	ENST00000248070.6:c.428G>T	p.Gly143Val	p.G143V	ENST00000248070	NM_021235.2	143	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS58654.1	428	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAACCATTG	NONE	.	.	PROSITE_profiles:PS50031,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF69,Gene3D:1.10.238.10,Pfam_domain:PF12763,SMART_domains:SM00027,Superfamily_domains:SSF47473	.	.	ENSP00000393313	.	7/24	.	.	.	.	.	.	.	.	.	7/24	nonpreferredpair	ENST00000455140	Transcript	.	.	ENSG00000127527	24634	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	EP15R_HUMAN	EPS15L1	HGNC	.	.	UPI0000D4C04A	SNV	EPS15L1,missense_variant,p.Gly143Val,ENST00000594975,;EPS15L1,missense_variant,p.Gly143Val,ENST00000455140,;EPS15L1,missense_variant,p.Gly143Val,ENST00000248070,;EPS15L1,missense_variant,p.Gly143Val,ENST00000535753,;EPS15L1,missense_variant,p.Gly143Val,ENST00000597937,;EPS15L1,5_prime_UTR_variant,,ENST00000602009,;EPS15L1,missense_variant,p.Val72Phe,ENST00000593760,;EPS15L1,missense_variant,p.Gly143Val,ENST00000602022,;EPS15L1,3_prime_UTR_variant,,ENST00000596037,;EPS15L1,3_prime_UTR_variant,,ENST00000592031,;EPS15L1,downstream_gene_variant,,ENST00000597559,;	495	59	66	SUCCESS
ZNF730	100129543	.	GRCh37	19	23328629	23328629	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs780209391	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	21	0	ENST00000597761.2:c.783T>A	p.Cys261Ter	p.C261*	ENST00000597761	NM_001277403.1	261	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS59371.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTGGCAA	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472959	.	4/4	.	.	.	.	.	.	.	.	rs780209391	4/4	nonpreferredpair	ENST00000597761	Transcript	.	.	ENSG00000183850	32470	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN730_HUMAN	ZNF730	HGNC	.	.	UPI000035E7F4	SNV	ZNF730,stop_gained,p.Cys261Ter,ENST00000597761,;ZNF730,downstream_gene_variant,,ENST00000599195,;	982	21	16	SUCCESS
DPF1	8193	.	GRCh37	19	38713010	38713010	+	synonymous_variant	Silent	SNP	G	G	A	rs1220096548	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	47	0	ENST00000420980.2:c.366C>T	p.Cys122=	p.C122=	ENST00000420980	NM_004647.2	122	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46064.1	366	RADIA|MUTECT|MUSE|VARSCANS	.	TACTCGCAGGG	NONE	.	.	hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF92	.	.	ENSP00000347716	.	3/12	.	.	.	.	.	.	.	.	.	3/12	nonpreferredpair	ENST00000355526	Transcript	.	.	ENSG00000011332	20225	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DPF1_HUMAN	DPF1	HGNC	K7EJD5_HUMAN,C9JGC1_HUMAN,C9IZH8_HUMAN	.	UPI00018131F2	SNV	DPF1,synonymous_variant,p.%3D,ENST00000416611,;DPF1,synonymous_variant,p.%3D,ENST00000586624,;DPF1,synonymous_variant,p.%3D,ENST00000412732,;DPF1,synonymous_variant,p.%3D,ENST00000438365,;DPF1,synonymous_variant,p.%3D,ENST00000438060,;DPF1,synonymous_variant,p.%3D,ENST00000414789,;DPF1,synonymous_variant,p.%3D,ENST00000355526,;DPF1,synonymous_variant,p.%3D,ENST00000420980,;DPF1,synonymous_variant,p.%3D,ENST00000456296,;DPF1,stop_gained,p.Arg95Ter,ENST00000418517,;DPF1,non_coding_transcript_exon_variant,,ENST00000471976,;DPF1,non_coding_transcript_exon_variant,,ENST00000475938,;DPF1,upstream_gene_variant,,ENST00000472656,;DPF1,upstream_gene_variant,,ENST00000473716,;	393	47	63	SUCCESS
ATP1A1OS	0	.	GRCh37	1	116948480	116948480	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	83	0	ENST00000369492.4:n.665T>G		p.*222*	ENST00000369492				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53351.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACATTTGT	NONE	.	1086	.	.	.	ENSP00000445306	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,intron_variant,,ENST00000440951,;ATP1A1,downstream_gene_variant,,ENST00000537345,;ATP1A1,downstream_gene_variant,,ENST00000295598,;ATP1A1,downstream_gene_variant,,ENST00000369496,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369492,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369491,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1,upstream_gene_variant,,ENST00000495965,;ATP1A1,downstream_gene_variant,,ENST00000479960,;	.	83	64	SUCCESS
NBPF20	100288142	.	GRCh37	1	148341960	148341960	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	314	26	390	0	ENST00000369202.1:c.613G>T	p.Glu205Ter	p.E205*	ENST00000369202	NM_001278267.1	205	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	.	613	MUTECT|MUSE|VARSCANS	.	TTCCTCCAGTG	NONE	.	.	PROSITE_profiles:PS51316,Pfam_domain:PF06758	.	.	ENSP00000358203	.	6/111	.	.	.	.	.	.	.	.	.	6/111	nonpreferredpair	ENST00000369202	Transcript	.	.	ENSG00000203832	32000	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NBPF20	HGNC	S4R3H5_HUMAN,I0CMK7_HUMAN,H7BY69_HUMAN,F5H1Q5_HUMAN,A2BH96_HUMAN	.	UPI000066DA61	SNV	NBPF20,stop_gained,p.Glu130Ter,ENST00000369189,;NBPF20,stop_gained,p.Glu205Ter,ENST00000414710,;NBPF20,stop_gained,p.Glu205Ter,ENST00000369188,;NBPF20,stop_gained,p.Glu205Ter,ENST00000369202,;	811	391	340	SUCCESS
LCE1A	353131	.	GRCh37	1	152800128	152800128	+	synonymous_variant	Silent	SNP	C	C	T	rs759749053	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	81	0	ENST00000335123.2:c.180C>T	p.Cys60=	p.C60=	ENST00000335123	NM_178348.2	60	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS1028.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCAGCTC	NONE	byFrequency	.	Pfam_domain:PF14672,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Low_complexity_(Seg):seg	.	.	ENSP00000334869	.	1/1	.	.	.	.	.	.	.	.	rs759749053	1/1	nonpreferredpair	ENST00000335123	Transcript	.	.	ENSG00000186844	29459	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE1A_HUMAN	LCE1A	HGNC	.	.	UPI0000192766	SNV	LCE1A,synonymous_variant,p.%3D,ENST00000335123,;	180	81	112	SUCCESS
ADCY10	55811	.	GRCh37	1	167849404	167849404	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778932200	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	16	124	0	ENST00000367851.4:c.1165G>A	p.Gly389Arg	p.G389R	ENST00000367851	NM_018417.4	389	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1265.1	1165	RADIA|MUTECT|MUSE	.	AATCCCACTGG	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR16305:SF23,hmmpanther:PTHR16305,Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF011131,Superfamily_domains:SSF55073	.	.	ENSP00000356825	.	11/33	.	.	.	.	.	.	.	.	rs778932200	11/33	nonpreferredpair	ENST00000367851	Transcript	.	.	ENSG00000143199	21285	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADCYA_HUMAN	ADCY10	HGNC	.	.	UPI0000204D00	SNV	ADCY10,missense_variant,p.Gly236Arg,ENST00000545172,;ADCY10,missense_variant,p.Gly389Arg,ENST00000367851,;ADCY10,missense_variant,p.Gly297Arg,ENST00000367848,;	1350	124	131	SUCCESS
ASTN1	460	.	GRCh37	1	176999968	176999968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	89	0	ENST00000361833.2:c.986G>A	p.Arg329Lys	p.R329K	ENST00000361833		329	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS1319.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCTCTGG	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	4/23	.	.	.	.	.	.	.	.	.	4/23	nonpreferredpair	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated_low_confidence(0.25)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Arg329Lys,ENST00000367654,;ASTN1,missense_variant,p.Arg329Lys,ENST00000424564,;ASTN1,missense_variant,p.Arg329Lys,ENST00000361833,;ASTN1,missense_variant,p.Arg329Lys,ENST00000367657,;MIR488,upstream_gene_variant,,ENST00000365739,;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	1000	89	76	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182922155	182922155	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	34	0	ENST00000367547.3:c.114del	p.Thr39ProfsTer2	p.T39Pfs*2	ENST00000367547	NM_030933.2	38	acC/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS30955.1	114	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGGTGGTCGC	NONE	.	.	hmmpanther:PTHR14695:SF7,hmmpanther:PTHR14695	.	.	ENSP00000356518	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000367547	Transcript	.	.	ENSG00000157060	16788	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	deletion	SHCBP1L,frameshift_variant,p.Thr39ProfsTer2,ENST00000367547,;SHCBP1L,upstream_gene_variant,,ENST00000423786,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;SHCBP1L,upstream_gene_variant,,ENST00000467208,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	351	34	44	SUCCESS
DIEXF	0	.	GRCh37	1	210015748	210015748	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	85	0	ENST00000491415.2:c.1624A>G	p.Ile542Val	p.I542V	ENST00000491415	NM_014388.6	542	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1493.1	1624	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGATCAAC	NONE	.	.	hmmpanther:PTHR12933,Pfam_domain:PF06862,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000419005	.	9/12	.	.	.	.	.	.	.	.	.	9/12	nonpreferredpair	ENST00000491415	Transcript	.	.	ENSG00000117597	28440	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(0.07)	.	DIEXF_HUMAN	DIEXF	HGNC	B3KVX2_HUMAN	.	UPI000006D987	SNV	DIEXF,missense_variant,p.Ile542Val,ENST00000491415,;DIEXF,missense_variant,p.Ile223Val,ENST00000457820,;	1681	85	103	SUCCESS
CENPF	1063	.	GRCh37	1	214819975	214819975	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	75	262	0	ENST00000366955.3:c.7062T>A	p.His2354Gln	p.H2354Q	ENST00000366955	NM_016343.3	2354	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS31023.1	7062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATGCAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	13/20	.	.	.	.	.	.	.	.	.	13/20	nonpreferredpair	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.His2354Gln,ENST00000366955,;CENPF,upstream_gene_variant,,ENST00000467765,;	7230	262	246	SUCCESS
ARID1A	8289	.	GRCh37	1	27101142	27101142	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	52	0	ENST00000324856.7:c.4424A>C	p.Asn1475Thr	p.N1475T	ENST00000324856	NM_006015.4	1475	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS285.1	4424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAACATGC	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	18/20	.	.	.	.	.	.	.	.	.	18/20	nonpreferredpair	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Asn1092Thr,ENST00000374152,;ARID1A,missense_variant,p.Asn372Thr,ENST00000430799,;ARID1A,missense_variant,p.Asn1475Thr,ENST00000324856,;ARID1A,intron_variant,,ENST00000457599,;ARID1A,intron_variant,,ENST00000540690,;ARID1A,intron_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;	4795	52	51	SUCCESS
RLF	6018	.	GRCh37	1	40668089	40668089	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	11	101	0	ENST00000372771.4:c.613A>G	p.Lys205Glu	p.K205E	ENST00000372771	NM_012421.3	205	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS448.1	613	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATAAATTG	NONE	.	.	hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507	.	.	ENSP00000361857	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000372771	Transcript	.	.	ENSG00000117000	10025	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.29)	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,missense_variant,p.Lys205Glu,ENST00000372771,;	640	101	100	SUCCESS
KCNAB2	8514	.	GRCh37	1	6133803	6133803	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	42	0	ENST00000164247.1:c.174G>A	p.Val58=	p.V58=	ENST00000164247	NM_001199860.1	58	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55570.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGACCTT	NONE	.	.	hmmpanther:PTHR11732:SF196,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,TIGRFAM_domain:TIGR01293,Superfamily_domains:SSF51430	.	.	ENSP00000367323	.	4/16	.	.	.	.	.	.	.	.	.	4/16	nonpreferredpair	ENST00000378083	Transcript	.	.	ENSG00000069424	6229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCAB2_HUMAN	KCNAB2	HGNC	.	.	UPI000035E741	SNV	KCNAB2,synonymous_variant,p.%3D,ENST00000435937,;KCNAB2,synonymous_variant,p.%3D,ENST00000389632,;KCNAB2,synonymous_variant,p.%3D,ENST00000378083,;KCNAB2,synonymous_variant,p.%3D,ENST00000472700,;KCNAB2,synonymous_variant,p.%3D,ENST00000602612,;KCNAB2,synonymous_variant,p.%3D,ENST00000164247,;KCNAB2,synonymous_variant,p.%3D,ENST00000428161,;KCNAB2,synonymous_variant,p.%3D,ENST00000341524,;KCNAB2,synonymous_variant,p.%3D,ENST00000378092,;KCNAB2,synonymous_variant,p.%3D,ENST00000378111,;KCNAB2,synonymous_variant,p.%3D,ENST00000378097,;KCNAB2,synonymous_variant,p.%3D,ENST00000378087,;KCNAB2,synonymous_variant,p.%3D,ENST00000352527,;KCNAB2,5_prime_UTR_variant,,ENST00000458166,;KCNAB2,downstream_gene_variant,,ENST00000445501,;KCNAB2,non_coding_transcript_exon_variant,,ENST00000478098,;	562	42	49	SUCCESS
DEPDC1	55635	.	GRCh37	1	68954709	68954709	+	synonymous_variant	Silent	SNP	G	G	A	rs561724598	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	35	258	0	ENST00000456315.2:c.480C>T	p.Gly160=	p.G160=	ENST00000456315	NM_001114120.1	160	ggC/ggT	0	.	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS44159.1	480	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGCCATT	NONE	by1000G	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12,Gene3D:1.10.10.10	A:0	.	ENSP00000412292	A:0.001	4/12	.	.	.	.	.	.	.	.	rs561724598	4/12	nonpreferredpair	ENST00000456315	Transcript	.	A:0.0002	ENSG00000024526	22949	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	SNV	DEPDC1,synonymous_variant,p.%3D,ENST00000456315,;DEPDC1,synonymous_variant,p.%3D,ENST00000370966,;DEPDC1,5_prime_UTR_variant,,ENST00000525124,;DEPDC1,synonymous_variant,p.%3D,ENST00000489862,;	595	258	249	SUCCESS
PRND	23627	.	GRCh37	20	4705195	4705195	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs200611031	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	40	0	ENST00000305817.2:c.-3G>T		p.*1*	ENST00000305817	NM_012409.2			0	A:0.0023	A:0.0038	.	A:0.0014	.	T	.	protein_coding	YES	CCDS13081.1	.	MUTECT|MUSE	.	CTGACGCGATG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000306900	A:0	2/2	.	.	.	.	.	.	.	.	rs200611031	2/2	nonpreferredpair	ENST00000305817	Transcript	.	A:0.0012	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,5_prime_UTR_variant,,ENST00000305817,;	69	40	49	SUCCESS
MRGBP	55257	.	GRCh37	20	61429990	61429990	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	89	0	ENST00000370487.3:c.322C>A	p.Pro108Thr	p.P108T	ENST00000370487	NM_018270.4	108	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS13503.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCCAGAA	NONE	.	.	hmmpanther:PTHR13581,hmmpanther:PTHR13581:SF4,Pfam_domain:PF07904	.	.	ENSP00000359518	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000370487	Transcript	.	.	ENSG00000101189	15866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	MRGBP_HUMAN	MRGBP	HGNC	A8C4L5_HUMAN	.	UPI0000049FC0	SNV	MRGBP,missense_variant,p.Pro108Thr,ENST00000370487,;OGFR-AS1,downstream_gene_variant,,ENST00000431361,;	393	89	100	SUCCESS
SYNJ1	8867	.	GRCh37	21	34014266	34014266	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	59	0	ENST00000433931.2:c.3645G>T	p.Gln1215His	p.Q1215H	ENST00000433931	NM_003895.3	1215	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS33539.2	3645	RADIA|MUTECT|MUSE	.	GAAGGCTGACT	NONE	.	.	hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200	.	.	ENSP00000409667	.	29/32	.	.	.	.	.	.	.	.	COSM1730745,COSM1730744	29/32	nonpreferredpair	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	possibly_damaging(0.847)	.	deleterious_low_confidence(0)	1,1	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	SNV	SYNJ1,missense_variant,p.Gln29His,ENST00000416083,;SYNJ1,missense_variant,p.Gln1215His,ENST00000382499,;SYNJ1,missense_variant,p.Gln1129His,ENST00000382491,;SYNJ1,missense_variant,p.Gln1215His,ENST00000433931,;SYNJ1,missense_variant,p.Gln1160His,ENST00000357345,;SYNJ1,missense_variant,p.Gln52His,ENST00000438952,;SYNJ1,missense_variant,p.Gln1176His,ENST00000322229,;SYNJ1,upstream_gene_variant,,ENST00000418301,;	3653	59	61	SUCCESS
UBASH3A	53347	.	GRCh37	21	43863423	43863423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs1459536026	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	29	0	ENST00000319294.6:c.1633C>A	p.Pro545Thr	p.P545T	ENST00000319294	NM_018961.3	545	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS13687.1	1633	MUTECT|MUSE|VARSCANS	.	CCAGGCCCGCG	NONE	.	.	hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF7,Pfam_domain:PF00300,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254	.	.	ENSP00000317327	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000319294	Transcript	.	.	ENSG00000160185	12462	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.543)	.	deleterious(0.01)	.	UBS3A_HUMAN	UBASH3A	HGNC	.	.	UPI0000137941	SNV	UBASH3A,missense_variant,p.Pro545Thr,ENST00000319294,;UBASH3A,missense_variant,p.Pro507Thr,ENST00000291535,;UBASH3A,intron_variant,,ENST00000398367,;UBASH3A,splice_region_variant,,ENST00000473381,;	1664	29	30	SUCCESS
CLDN5	7122	.	GRCh37	22	19511463	19511463	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	38	1	ENST00000406028.1:c.571A>G	p.Thr191Ala	p.T191A	ENST00000406028		191	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13763.2	571	MUTECT|MUSE|VARSCANS	.	GCAGGTGGTGC	NONE	.	.	hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF35,Pfam_domain:PF00822	.	.	ENSP00000385477	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000406028	Transcript	.	.	ENSG00000184113	2047	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.491)	.	deleterious(0.03)	.	CLD5_HUMAN	CLDN5	HGNC	D3DX19_HUMAN	.	UPI0000207B80	SNV	CLDN5,missense_variant,p.Thr191Ala,ENST00000413119,;CLDN5,missense_variant,p.Thr191Ala,ENST00000406028,;CLDN5,missense_variant,p.Thr191Ala,ENST00000403084,;CDC45,downstream_gene_variant,,ENST00000407835,;CDC45,downstream_gene_variant,,ENST00000263201,;CDC45,downstream_gene_variant,,ENST00000404724,;CDC45,downstream_gene_variant,,ENST00000437685,;CDC45,downstream_gene_variant,,ENST00000493724,;	1632	39	30	SUCCESS
TST	7263	.	GRCh37	22	37414605	37414605	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	42	0	ENST00000249042.3:c.169T>C	p.Ser57Pro	p.S57P	ENST00000249042	NM_003312.5	57	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS13938.1	169	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAGGCGC	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR11364,hmmpanther:PTHR11364:SF6,PROSITE_patterns:PS00380,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821	.	.	ENSP00000385828	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000403892	Transcript	.	.	ENSG00000128311	12388	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	tolerated(0.11)	.	THTR_HUMAN	TST	HGNC	B1AH48_HUMAN	.	UPI0000167B82	SNV	TST,missense_variant,p.Ser57Pro,ENST00000438203,;TST,missense_variant,p.Ser57Pro,ENST00000403892,;TST,missense_variant,p.Ser57Pro,ENST00000249042,;MPST,upstream_gene_variant,,ENST00000404393,;MPST,upstream_gene_variant,,ENST00000397129,;MPST,upstream_gene_variant,,ENST00000404802,;MPST,upstream_gene_variant,,ENST00000341116,;MPST,upstream_gene_variant,,ENST00000401419,;MPST,upstream_gene_variant,,ENST00000397225,;MPST,upstream_gene_variant,,ENST00000429360,;MPST,upstream_gene_variant,,ENST00000485587,;	904	42	37	SUCCESS
ADSL	158	.	GRCh37	22	40742563	40742563	+	start_lost	Translation_Start_Site	SNP	A	A	G	rs1426265523	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	24	0	ENST00000216194.7:c.1A>G	p.Met1?	p.M1?	ENST00000216194	NM_000026.2	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS14001.1	1	MUTECT|MUSE	.	TTGGGATGGCG	NONE	.	.	.	.	.	ENSP00000216194	.	1/13	.	.	.	.	.	.	.	.	CM021059,CM068481	1/13	nonpreferredpair	ENST00000216194	Transcript	.	.	ENSG00000239900	291	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.354)	.	deleterious_low_confidence(0)	.	PUR8_HUMAN	ADSL	HGNC	B4DUM2_HUMAN	.	UPI0000132AC7	SNV	ADSL,start_lost,p.Met1?,ENST00000454266,;ADSL,start_lost,p.Met1?,ENST00000216194,;ADSL,start_lost,p.Met1?,ENST00000342312,;ADSL,non_coding_transcript_exon_variant,,ENST00000466863,;ADSL,upstream_gene_variant,,ENST00000477111,;	57	24	19	SUCCESS
ITGA4	3676	.	GRCh37	2	182400236	182400236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	344	56	411	1	ENST00000397033.2:c.3081T>A	p.Ser1027Arg	p.S1027R	ENST00000397033	NM_000885.4	1027	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS42788.1	3081	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGTAAAAG	NONE	.	.	hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220	.	.	ENSP00000380227	.	28/28	.	.	.	.	.	.	.	.	.	28/28	nonpreferredpair	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.758)	.	tolerated(0.1)	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,missense_variant,p.Ser1027Arg,ENST00000397033,;CERKL,downstream_gene_variant,,ENST00000409440,;CERKL,downstream_gene_variant,,ENST00000374970,;CERKL,downstream_gene_variant,,ENST00000339098,;CERKL,downstream_gene_variant,,ENST00000410087,;CERKL,downstream_gene_variant,,ENST00000374969,;CERKL,downstream_gene_variant,,ENST00000374967,;CERKL,downstream_gene_variant,,ENST00000494398,;CERKL,downstream_gene_variant,,ENST00000421817,;CERKL,downstream_gene_variant,,ENST00000452174,;	3511	412	400	SUCCESS
APOB	338	.	GRCh37	2	21229859	21229859	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	19	196	0	ENST00000233242.1:c.9881C>A	p.Ser3294Ter	p.S3294*	ENST00000233242	NM_000384.2	3294	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS1703.1	9881	RADIA|MUTECT|MUSE|VARSCANS	.	TGTATGAAGGC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	COSM3577174	26/29	nonpreferredpair	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,stop_gained,p.Ser3294Ter,ENST00000233242,;	10009	196	153	SUCCESS
SLC4A5	57835	.	GRCh37	2	74482906	74482906	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	29	0	ENST00000346834.4:c.1021A>T	p.Thr341Ser	p.T341S	ENST00000346834		341	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1936.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTGGGGA	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834,Gene3D:1hynR00,Superfamily_domains:SSF55804,Prints_domain:PR01231	.	.	ENSP00000366861	.	13/31	.	.	.	.	.	.	.	.	.	13/31	nonpreferredpair	ENST00000377634	Transcript	.	.	ENSG00000188687	18168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	tolerated(0.22)	.	S4A5_HUMAN	SLC4A5	HGNC	Q9UDR3_HUMAN,Q53S35_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN	.	UPI000013C97B	SNV	SLC4A5,missense_variant,p.Thr341Ser,ENST00000377632,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000425249,;SLC4A5,missense_variant,p.Thr277Ser,ENST00000359484,;SLC4A5,missense_variant,p.Thr277Ser,ENST00000358683,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000423644,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000394019,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000346834,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000377634,;SLC4A5,missense_variant,p.Thr341Ser,ENST00000357822,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;SLC4A5,upstream_gene_variant,,ENST00000479776,;	1421	29	36	SUCCESS
AADAC	13	.	GRCh37	3	151545468	151545468	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	19	116	0	ENST00000232892.7:c.708A>G	p.Ser236=	p.S236=	ENST00000232892	NM_001086.2	236	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33877.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAAATTT	NONE	.	.	hmmpanther:PTHR23024:SF97,hmmpanther:PTHR23024,Gene3D:3.40.50.1820,Pfam_domain:PF07859,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	.	.	ENSP00000232892	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000232892	Transcript	.	.	ENSG00000114771	17	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAAD_HUMAN	AADAC	HGNC	.	.	UPI000006D992	SNV	AADAC,synonymous_variant,p.%3D,ENST00000232892,;AADAC,downstream_gene_variant,,ENST00000488869,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;	834	116	114	SUCCESS
ACVR2B	93	.	GRCh37	3	38519668	38519668	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	38	0	ENST00000352511.4:c.407T>C	p.Leu136Pro	p.L136P	ENST00000352511	NM_001106.3	136	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS2679.1	407	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTCACGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57	.	.	ENSP00000340361	.	4/11	.	.	.	.	.	.	.	.	.	4/11	nonpreferredpair	ENST00000352511	Transcript	.	.	ENSG00000114739	174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.61)	.	tolerated(0.15)	.	AVR2B_HUMAN	ACVR2B	HGNC	Q71UM3_HUMAN,Q4VAU9_HUMAN	.	UPI00001AF0AE	SNV	ACVR2B,missense_variant,p.Leu136Pro,ENST00000352511,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;	879	38	38	SUCCESS
ZNF197	10168	.	GRCh37	3	44673680	44673680	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	73	0	ENST00000344387.4:c.634C>T	p.Gln212Ter	p.Q212*	ENST00000344387	NM_006991.3	212	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS2717.1	634	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCAGCCC	NONE	.	.	Superfamily_domains:0044637	.	.	ENSP00000379370	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000396058	Transcript	.	.	ENSG00000186448	12988	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN197_HUMAN	ZNF197	HGNC	C9JQH5_HUMAN	.	UPI000013C317	SNV	ZNF197,stop_gained,p.Gln212Ter,ENST00000396058,;ZNF197,stop_gained,p.Gln212Ter,ENST00000383745,;ZNF197,stop_gained,p.Gln212Ter,ENST00000344387,;ZNF197,stop_gained,p.Gln212Ter,ENST00000383744,;ZNF197,downstream_gene_variant,,ENST00000412641,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,3_prime_UTR_variant,,ENST00000334075,;	801	73	48	SUCCESS
PSMD6	9861	.	GRCh37	3	64005107	64005107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	102	0	ENST00000295901.4:c.362T>A	p.Leu121Gln	p.L121Q	ENST00000295901	NM_014814.2	121	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2901.1	362	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCAGAGCT	NONE	.	.	hmmpanther:PTHR14145:SF1,hmmpanther:PTHR14145,Pfam_domain:PF10602,Superfamily_domains:SSF48452	.	.	ENSP00000295901	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000295901	Transcript	.	.	ENSG00000163636	9564	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.616)	.	deleterious(0.01)	.	PSMD6_HUMAN	PSMD6	HGNC	.	.	UPI0000132787	SNV	PSMD6,missense_variant,p.Leu135Gln,ENST00000497323,;PSMD6,missense_variant,p.Leu83Gln,ENST00000394431,;PSMD6,missense_variant,p.Leu174Gln,ENST00000492933,;PSMD6,missense_variant,p.Leu82Gln,ENST00000482510,;PSMD6,missense_variant,p.Leu121Gln,ENST00000295901,;PSMD6,missense_variant,p.Leu142Gln,ENST00000478185,;PSMD6,upstream_gene_variant,,ENST00000480205,;RP11-245J9.6,upstream_gene_variant,,ENST00000605919,;RP11-245J9.4,downstream_gene_variant,,ENST00000462717,;PSMD6,non_coding_transcript_exon_variant,,ENST00000476464,;PSMD6,non_coding_transcript_exon_variant,,ENST00000475036,;PSMD6,upstream_gene_variant,,ENST00000497315,;PSMD6,upstream_gene_variant,,ENST00000467853,;	503	102	84	SUCCESS
YIPF7	285525	.	GRCh37	4	44626734	44626734	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	42	188	0	ENST00000332990.5:c.564C>T	p.Ala188=	p.A188=	ENST00000332990	NM_182592.2	188	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54766.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAGGCATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21236:SF5,hmmpanther:PTHR21236,Pfam_domain:PF04893	.	.	ENSP00000332772	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000332990	Transcript	.	.	ENSG00000177752	26825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF7_HUMAN	YIPF7	HGNC	.	.	UPI00015347BF	SNV	YIPF7,synonymous_variant,p.%3D,ENST00000415895,;YIPF7,synonymous_variant,p.%3D,ENST00000332990,;YIPF7,downstream_gene_variant,,ENST00000510035,;YIPF7,downstream_gene_variant,,ENST00000502794,;	581	189	191	SUCCESS
CDS1	1040	.	GRCh37	4	85540553	85540553	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	103	0	ENST00000295887.5:c.447T>C	p.Phe149=	p.F149=	ENST00000295887	NM_001263.3	149	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS3608.1	447	RADIA|MUTECT|MUSE|VARSCANS	.	TACTTTCTATT	NONE	.	.	Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF018269,Pfam_domain:PF01148,hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF5	.	.	ENSP00000295887	.	5/13	.	.	.	.	.	.	.	.	.	5/13	nonpreferredpair	ENST00000295887	Transcript	.	.	ENSG00000163624	1800	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDS1_HUMAN	CDS1	HGNC	.	.	UPI0000127453	SNV	CDS1,synonymous_variant,p.%3D,ENST00000295887,;CDS1,3_prime_UTR_variant,,ENST00000511298,;	870	103	98	SUCCESS
PGGT1B	5229	.	GRCh37	5	114557604	114557604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs75945684	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	346	51	375	0	ENST00000419445.1:c.760A>G	p.Met254Val	p.M254V	ENST00000419445	NM_005023.3	254	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS4116.1	760	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATTATAC	NONE	.	.	hmmpanther:PTHR11774:SF4,hmmpanther:PTHR11774,Pfam_domain:PF00432,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000404676	.	7/9	.	.	.	.	.	.	.	.	rs75945684	7/9	nonpreferredpair	ENST00000419445	Transcript	.	.	ENSG00000164219	8895	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.36)	.	tolerated(0.34)	.	PGTB1_HUMAN	PGGT1B	HGNC	.	.	UPI00001AEC1C	SNV	PGGT1B,missense_variant,p.Met254Val,ENST00000419445,;PGGT1B,intron_variant,,ENST00000379615,;PGGT1B,non_coding_transcript_exon_variant,,ENST00000514178,;PGGT1B,intron_variant,,ENST00000296642,;	781	375	398	SUCCESS
SEC24A	10802	.	GRCh37	5	133997208	133997208	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763123489	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	98	0	ENST00000398844.2:c.497G>T	p.Ser166Ile	p.S166I	ENST00000398844	NM_021982.2	166	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43363.1	497	RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGTTTAA	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1	.	.	ENSP00000381823	.	2/23	.	.	.	.	.	.	.	.	rs763123489	2/23	nonpreferredpair	ENST00000398844	Transcript	.	.	ENSG00000113615	10703	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.08)	.	SC24A_HUMAN	SEC24A	HGNC	.	.	UPI0000185FF9	SNV	SEC24A,missense_variant,p.Ser166Ile,ENST00000322887,;SEC24A,missense_variant,p.Ser166Ile,ENST00000398844,;	785	98	106	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140792839	140792839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753942667	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	77	0	ENST00000398610.2:c.97C>T	p.Arg33Trp	p.R33W	ENST00000398610	NM_018913.2	33	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS47292.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCGGCAG	NONE	byFrequency	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	rs753942667	1/4	nonpreferredpair	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious_low_confidence(0)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Arg33Trp,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	97	77	71	SUCCESS
GEMIN5	25929	.	GRCh37	5	154311018	154311018	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs753962116	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	79	1	ENST00000285873.7:c.781G>A	p.Gly261Arg	p.G261R	ENST00000285873	NM_001252156.1	261	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4330.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTCGGC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000285873	.	5/28	.	.	.	.	.	.	.	.	rs753962116,COSM1064802	5/28	nonpreferredpair	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	.	deleterious(0.04)	0,1	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,missense_variant,p.Gly261Arg,ENST00000285873,;GEMIN5,splice_region_variant,,ENST00000523355,;	857	80	86	SUCCESS
MED23	9439	.	GRCh37	6	131924170	131924170	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	89	0	ENST00000368068.3:c.1931G>A	p.Cys644Tyr	p.C644Y	ENST00000368068	NM_004830.3	644	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS5147.1	1931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCAAAGA	NONE	.	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	16/29	.	.	.	.	.	.	.	.	.	16/29	nonpreferredpair	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,missense_variant,p.Cys285Tyr,ENST00000545957,;MED23,missense_variant,p.Cys644Tyr,ENST00000368068,;MED23,missense_variant,p.Cys650Tyr,ENST00000354577,;MED23,missense_variant,p.Cys650Tyr,ENST00000403834,;MED23,missense_variant,p.Cys644Tyr,ENST00000368060,;MED23,missense_variant,p.Cys650Tyr,ENST00000540546,;MED23,missense_variant,p.Cys650Tyr,ENST00000368058,;MED23,missense_variant,p.Cys650Tyr,ENST00000368053,;MED23,splice_region_variant,,ENST00000539158,;	2111	89	83	SUCCESS
EYA4	2070	.	GRCh37	6	133846297	133846297	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	40	231	1	ENST00000367895.5:c.1744G>A	p.Glu582Lys	p.E582K	ENST00000367895	NM_004100.4	582	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5165.1	1744	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGAAAGT	NONE	.	.	hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF17,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01658	.	.	ENSP00000356870	.	19/20	.	.	.	.	.	.	.	.	.	19/20	nonpreferredpair	ENST00000367895	Transcript	.	.	ENSG00000112319	3522	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	deleterious(0)	.	EYA4_HUMAN	EYA4	HGNC	.	.	UPI000013D649	SNV	EYA4,missense_variant,p.Glu559Lys,ENST00000355286,;EYA4,missense_variant,p.Glu588Lys,ENST00000531901,;EYA4,missense_variant,p.Glu582Lys,ENST00000367895,;EYA4,intron_variant,,ENST00000430974,;EYA4,intron_variant,,ENST00000431403,;EYA4,intron_variant,,ENST00000355167,;EYA4,intron_variant,,ENST00000452339,;EYA4,intron_variant,,ENST00000525849,;RP3-323P13.2,intron_variant,,ENST00000607033,;	2208	232	232	SUCCESS
JARID2	3720	.	GRCh37	6	15452356	15452356	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1240260518	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	57	0	ENST00000341776.2:c.443C>G	p.Ser148Cys	p.S148C	ENST00000341776	NM_004973.3	148	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS4533.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCTAAAA	NONE	.	.	hmmpanther:PTHR10694	.	.	ENSP00000341280	.	4/18	.	.	.	.	.	.	.	.	.	4/18	nonpreferredpair	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Ser110Cys,ENST00000541660,;JARID2,missense_variant,p.Ser148Cys,ENST00000341776,;JARID2,5_prime_UTR_variant,,ENST00000397311,;	687	57	66	SUCCESS
RUNX2	860	.	GRCh37	6	45390432	45390432	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs758173198	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	56	0	ENST00000371438.1:c.161A>C	p.Gln54Pro	p.Q54P	ENST00000371438	NM_001024630.3	54	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS43467.2	161	RADIA|MUTECT|MUSE|VARSCANS	.	GCAACAGCAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11950:SF7,hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374	.	.	ENSP00000360493	.	2/8	.	.	.	.	.	.	.	.	rs758173198	2/8	nonpreferredpair	ENST00000371438	Transcript	.	.	ENSG00000124813	10472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated_low_confidence(0.31)	.	RUNX2_HUMAN	RUNX2	HGNC	U3RG86_HUMAN	.	UPI000013532F	SNV	RUNX2,missense_variant,p.Gln40Pro,ENST00000359524,;RUNX2,missense_variant,p.Gln122Pro,ENST00000352853,;RUNX2,missense_variant,p.Gln122Pro,ENST00000541979,;RUNX2,missense_variant,p.Gln54Pro,ENST00000371436,;RUNX2,missense_variant,p.Gln54Pro,ENST00000465038,;RUNX2,missense_variant,p.Gln54Pro,ENST00000576263,;RUNX2,missense_variant,p.Gln54Pro,ENST00000371438,;RUNX2,missense_variant,p.Gln40Pro,ENST00000371432,;RP1-244F24.1,upstream_gene_variant,,ENST00000606796,;RUNX2,missense_variant,p.Gln40Pro,ENST00000478660,;RUNX2,intron_variant,,ENST00000483377,;	519	56	67	SUCCESS
PUS7	54517	.	GRCh37	7	105121549	105121549	+	synonymous_variant	Silent	SNP	A	A	G	rs1402455916	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	20	112	0	ENST00000356362.2:c.1125T>C	p.Tyr375=	p.Y375=	ENST00000356362	NM_019042.3	375	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS34725.1	1125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCATAGTA	NONE	.	.	PROSITE_profiles:PS50984,hmmpanther:PTHR13326,TIGRFAM_domain:TIGR00094,Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,Superfamily_domains:SSF55120	.	.	ENSP00000348722	.	9/16	.	.	.	.	.	.	.	.	.	9/16	nonpreferredpair	ENST00000356362	Transcript	.	.	ENSG00000091127	26033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUS7_HUMAN	PUS7	HGNC	A3R6R7_HUMAN	.	UPI00001D483E	SNV	PUS7,synonymous_variant,p.%3D,ENST00000356362,;PUS7,synonymous_variant,p.%3D,ENST00000469408,;PUS7,synonymous_variant,p.%3D,ENST00000481939,;	1340	112	113	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117398014	117398014	+	synonymous_variant	Silent	SNP	C	C	T	rs747361472	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	47	0	ENST00000160373.3:c.3183G>A	p.Pro1061=	p.P1061=	ENST00000160373	NM_033427.2	1061	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5774.1	3183	RADIA|MUTECT|MUSE|VARSCANS	.	GACCACGGCAC	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	11/23	.	.	.	.	.	.	.	.	rs747361472,COSM1447513	11/23	nonpreferredpair	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,synonymous_variant,p.%3D,ENST00000435233,;CTTNBP2,synonymous_variant,p.%3D,ENST00000446636,;CTTNBP2,synonymous_variant,p.%3D,ENST00000160373,;CTTNBP2,synonymous_variant,p.%3D,ENST00000416239,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,non_coding_transcript_exon_variant,,ENST00000482124,;CTTNBP2,downstream_gene_variant,,ENST00000467088,;	3275	47	41	SUCCESS
AKR1B1	231	.	GRCh37	7	134143873	134143873	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	56	0	ENST00000285930.4:c.-59G>T		p.*20*	ENST00000285930	NM_001628.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5831.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTACCTTTA	NONE	.	.	.	.	.	ENSP00000285930	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000285930	Transcript	.	.	ENSG00000085662	381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALDR_HUMAN	AKR1B1	HGNC	O15289_HUMAN	.	UPI000000D78E	SNV	AKR1B1,5_prime_UTR_variant,,ENST00000285930,;AKR1B1,splice_donor_variant,,ENST00000487438,;AKR1B1,splice_donor_variant,,ENST00000497983,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000489022,;AKR1B1,splice_donor_variant,,ENST00000491741,;AKR1B1,splice_donor_variant,,ENST00000467829,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000462784,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000484592,;AKR1B1,upstream_gene_variant,,ENST00000434222,;AKR1B1,upstream_gene_variant,,ENST00000465351,;AKR1B1,upstream_gene_variant,,ENST00000426422,;	22	56	42	SUCCESS
BMPER	168667	.	GRCh37	7	34014331	34014331	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1176480335	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	12	131	0	ENST00000297161.2:c.511G>A	p.Val171Met	p.V171M	ENST00000297161	NM_133468.4	171	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS5442.1	511	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTGTGCAG	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000297161	.	7/16	.	.	.	.	.	.	.	.	.	7/16	nonpreferredpair	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.11)	.	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Val171Met,ENST00000297161,;BMPER,missense_variant,p.Val171Met,ENST00000426693,;BMPER,synonymous_variant,p.%3D,ENST00000436222,;	885	131	114	SUCCESS
PKD1L1	168507	.	GRCh37	7	47988020	47988020	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	46	0	ENST00000289672.2:c.18C>A	p.Ala6=	p.A6=	ENST00000289672	NM_138295.3	6	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34633.1	18	RADIA|MUSE	.	TTCTGGGCTGC	NONE	.	.	.	.	.	ENSP00000289672	.	1/57	.	.	.	.	.	.	.	.	.	1/57	nonpreferredpair	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,synonymous_variant,p.%3D,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	69	46	25	SUCCESS
XKR6	286046	.	GRCh37	8	10782237	10782237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	27	0	ENST00000416569.2:c.868C>A	p.Leu290Met	p.L290M	ENST00000416569	NM_173683.3	290	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5978.2	868	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCAGCATGT	BUFFER|p.R291H|c.872G>A|4	.	.	hmmpanther:PTHR32129:SF7,hmmpanther:PTHR32129,Pfam_domain:PF09815	.	.	ENSP00000416707	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000416569	Transcript	.	.	ENSG00000171044	27806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	XKR6_HUMAN	XKR6	HGNC	.	.	UPI00004C7A9D	SNV	XKR6,missense_variant,p.Leu11Met,ENST00000304437,;XKR6,missense_variant,p.Leu290Met,ENST00000416569,;XKR6,missense_variant,p.Leu67Met,ENST00000382461,;	895	27	38	SUCCESS
DGAT1	8694	.	GRCh37	8	145540885	145540885	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	36	0	ENST00000528718.1:n.191G>T		p.*64*	ENST00000528718		375		0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS6420.1	1125	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCTGCCA	NONE	.	.	hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF7,Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500231	.	.	ENSP00000332258	.	14/17	.	.	.	.	.	.	.	.	.	14/17	nonpreferredpair	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0.01)	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	SNV	DGAT1,missense_variant,p.Gln375His,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527438,;DGAT1,intron_variant,,ENST00000526479,;DGAT1,intron_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527885,;DGAT1,non_coding_transcript_exon_variant,,ENST00000528718,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;HSF1,downstream_gene_variant,,ENST00000527328,;	1399	36	30	SUCCESS
C8orf82	414919	.	GRCh37	8	145753145	145753147	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	rs764721650	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	10	0	ENST00000524821.1:c.230_232del	p.Phe77del	p.F77del	ENST00000524821		77	tTCTcc/tcc	0	.	.	.	.	.	-	FS/S	protein_coding	YES	CCDS34970.1	230-232	INDELOCATOR|VARSCANI	.	GGCGGGAGAAGAAG	NONE	.	.	hmmpanther:PTHR31449,hmmpanther:PTHR31449:SF1,Pfam_domain:PF14956	.	.	ENSP00000436621	.	3/3	.	.	.	.	.	.	.	.	rs764721650	3/3	nonpreferredpair	ENST00000524821	Transcript	.	.	ENSG00000213563	33826	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CH082_HUMAN	C8orf82	HGNC	.	.	UPI000006EE1C	deletion	C8orf82,inframe_deletion,p.Phe122del,ENST00000532827,;C8orf82,inframe_deletion,p.Phe77del,ENST00000524821,;C8orf82,3_prime_UTR_variant,,ENST00000313465,;ARHGAP39,downstream_gene_variant,,ENST00000276826,;LRRC24,upstream_gene_variant,,ENST00000529415,;LRRC24,upstream_gene_variant,,ENST00000533758,;C8orf82,downstream_gene_variant,,ENST00000527462,;ARHGAP39,downstream_gene_variant,,ENST00000540274,;LRRC14,downstream_gene_variant,,ENST00000292524,;ARHGAP39,downstream_gene_variant,,ENST00000377307,;LRRC14,downstream_gene_variant,,ENST00000528528,;LRRC14,downstream_gene_variant,,ENST00000530242,;LRRC14,downstream_gene_variant,,ENST00000529995,;C8orf82,inframe_deletion,p.Phe77del,ENST00000534680,;	446-448	10	16	SUCCESS
LAMC3	10319	.	GRCh37	9	133901891	133901891	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	84	0	ENST00000361069.4:c.593C>G	p.Ser198Cys	p.S198C	ENST00000361069	NM_006059.3	198	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS6938.1	593	MUTECT|MUSE	.	CATCTCCCCGC	NONE	.	.	SMART_domains:SM00136,Pfam_domain:PF00055,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,PROSITE_profiles:PS51117	.	.	ENSP00000354360	.	2/28	.	.	.	.	.	.	.	.	.	2/28	nonpreferredpair	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,missense_variant,p.Ser198Cys,ENST00000361069,;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;	726	84	67	SUCCESS
ZNF630	57232	.	GRCh37	X	47919574	47919574	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782469504	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	64	0	ENST00000409324.3:c.257A>T	p.Glu86Val	p.E86V	ENST00000409324	NM_001037735.2	86	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS35237.2	257	RADIA|MUTECT|MUSE|VARSCANS	.	AAGATTCAAGG	NONE	.	.	hmmpanther:PTHR24377:SF216,hmmpanther:PTHR24377	.	.	ENSP00000386393	.	5/5	.	.	.	.	.	.	.	.	rs782469504	5/5	nonpreferredpair	ENST00000409324	Transcript	.	.	ENSG00000221994	28855	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	deleterious(0)	.	ZN630_HUMAN	ZNF630	HGNC	B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN	.	UPI0000160BE4	SNV	ZNF630,missense_variant,p.Glu86Val,ENST00000428686,;ZNF630,missense_variant,p.Glu86Val,ENST00000409324,;ZNF630,missense_variant,p.Glu72Val,ENST00000442455,;ZNF630,5_prime_UTR_variant,,ENST00000421903,;ZNF630,5_prime_UTR_variant,,ENST00000276054,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,intron_variant,,ENST00000428463,;	484	64	71	SUCCESS
CLCN5	1184	.	GRCh37	X	49853423	49853444	+	frameshift_variant	Frame_Shift_Del	DEL	AATGGAACAGCTGGCTTATTAC	AATGGAACAGCTGGCTTATTAC	-	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	AATGGAACAGCTGGCTTATTAC	AATGGAACAGCTGGCTTATTAC	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	87	0	ENST00000307367.2:c.1416_1437del	p.Met473ThrfsTer32	p.M473Tfs*32	ENST00000307367		472	ggAATGGAACAGCTGGCTTATTAC/gg	0	.	.	.	.	.	-	GMEQLAYY/X	protein_coding	YES	CCDS48115.1	1626-1647	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTAGGAATGGAACAGCTGGCTTATTACCACCA	NONE	.	.	Superfamily_domains:SSF81340,Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689	.	.	ENSP00000365256	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000376088	Transcript	.	.	ENSG00000171365	2023	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLCN5_HUMAN	CLCN5	HGNC	.	.	UPI0000212052	deletion	CLCN5,frameshift_variant,p.Met473ThrfsTer32,ENST00000307367,;CLCN5,frameshift_variant,p.Met543ThrfsTer32,ENST00000376091,;CLCN5,frameshift_variant,p.Met473ThrfsTer32,ENST00000376108,;CLCN5,frameshift_variant,p.Met543ThrfsTer32,ENST00000376088,;	2267-2288	87	74	SUCCESS
AR	367	.	GRCh37	X	66765514	66765516	+	frameshift_variant	Frame_Shift_Del	DEL	AGC	AGC	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	AGC	AGC	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	48	0	ENST00000374690.3:c.526_528delinsT	p.Ser176LeufsTer4	p.S176Lfs*4	ENST00000374690	NM_000044.3	176	AGC/T	0	.	.	.	.	.	T	S/X	protein_coding	YES	CCDS14387.1	526-528	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTAAGCAGCTGCTC	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084,Pfam_domain:PF02166,Prints_domain:PR00521	.	.	ENSP00000363822	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	substitution	AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000504326,;AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000396044,;AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000374690,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,frameshift_variant,p.Ser176LeufsTer4,ENST00000514029,;	1050-1052	48	61	SUCCESS
KIAA2022	0	.	GRCh37	X	73960186	73960186	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	60	0	ENST00000055682.6:c.4206T>C	p.Asn1402=	p.N1402=	ENST00000055682	NM_001008537.2	1402	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS35337.1	4206	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATTGCT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,synonymous_variant,p.%3D,ENST00000055682,;KIAA2022,synonymous_variant,p.%3D,ENST00000424929,;	4818	60	71	SUCCESS
CPN1	1369	.	GRCh37	10	101823465	101823465	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	50	0	ENST00000370418.3:c.777C>A	p.Ser259=	p.S259=	ENST00000370418	NM_001308.2	259	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7486.1	777	RADIA|MUTECT|MUSE|VARSCANS	.	GCATAGGAGTA	NONE	.	.	hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000359446	.	5/9	.	.	.	.	.	.	.	.	COSM199885	5/9	PASS	ENST00000370418	Transcript	1	.	ENSG00000120054	2312	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CBPN_HUMAN	CPN1	HGNC	B1AP59_HUMAN,B1AP58_HUMAN	.	UPI00000012AC	SNV	CPN1,synonymous_variant,p.%3D,ENST00000370418,;CPN1,synonymous_variant,p.%3D,ENST00000441382,;	1029	50	75	SUCCESS
LHPP	64077	.	GRCh37	10	126150438	126150438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	68	0	ENST00000368842.5:c.7C>T	p.Pro3Ser	p.P3S	ENST00000368842	NM_022126.3	3	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7640.1	7	MUTECT|MUSE	.	TGGCACCGTGG	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF29	.	.	ENSP00000357835	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000368842	Transcript	.	.	ENSG00000107902	30042	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.66)	.	LHPP_HUMAN	LHPP	HGNC	.	.	UPI00001402EE	SNV	LHPP,missense_variant,p.Pro3Ser,ENST00000392757,;LHPP,missense_variant,p.Pro3Ser,ENST00000368839,;LHPP,missense_variant,p.Pro3Ser,ENST00000368842,;	35	68	69	SUCCESS
FAM149B1	317662	.	GRCh37	10	74970149	74970149	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	12	175	0	ENST00000242505.6:c.851G>C	p.Ser284Thr	p.S284T	ENST00000242505	NM_173348.1	284	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS44435.1	851	MUTECT|MUSE	.	TGTGAGCTGTA	NONE	.	.	hmmpanther:PTHR31997:SF0,hmmpanther:PTHR31997	.	.	ENSP00000242505	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000242505	Transcript	.	.	ENSG00000138286	29162	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.054)	.	deleterious(0.01)	.	F149B_HUMAN	FAM149B1	HGNC	.	.	UPI00001617A8	SNV	FAM149B1,missense_variant,p.Ser79Thr,ENST00000445951,;FAM149B1,missense_variant,p.Ser225Thr,ENST00000372955,;FAM149B1,missense_variant,p.Ser284Thr,ENST00000242505,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,missense_variant,p.Ser42Thr,ENST00000475829,;	1025	175	185	SUCCESS
CARD16	114769	.	GRCh37	11	104912234	104912234	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs889939311	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	11	101	0	ENST00000375706.2:c.487C>T	p.Arg163Trp	p.R163W	ENST00000375706	NM_001017534.1	163	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31661.1	487	RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGCTCAA	NONE	.	.	hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34	.	.	ENSP00000364858	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000375706	Transcript	.	.	ENSG00000204397	33701	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	deleterious_low_confidence(0)	.	CAR16_HUMAN	CARD16	HGNC	E9PQW1_HUMAN	.	UPI00004C9CE7	SNV	CARD16,missense_variant,p.Arg163Trp,ENST00000375706,;CASP1,intron_variant,,ENST00000415981,;CASP1,intron_variant,,ENST00000598974,;CASP1,intron_variant,,ENST00000593315,;CASP1,intron_variant,,ENST00000594519,;CARD16,downstream_gene_variant,,ENST00000375704,;CARD16,downstream_gene_variant,,ENST00000525374,;CARD16,downstream_gene_variant,,ENST00000528513,;CARD16,downstream_gene_variant,,ENST00000527065,;	505	101	112	SUCCESS
MUC2	4583	.	GRCh37	11	1080902	1080902	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	57	0	ENST00000441003.2:c.1286T>A	p.Leu429Gln	p.L429Q	ENST00000441003	NM_002457.2	429	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	.	1286	MUTECT|MUSE|VARSCANS	.	TCTCCTGGGCG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	10/49	.	.	.	.	.	.	.	.	.	10/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Leu429Gln,ENST00000441003,;MUC2,missense_variant,p.Leu429Gln,ENST00000359061,;	1313	57	80	SUCCESS
OR51S1	119692	.	GRCh37	11	4869689	4869689	+	synonymous_variant	Silent	SNP	G	G	T	rs774779619	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	11	94	0	ENST00000322101.2:c.750C>A	p.Ala250=	p.A250=	ENST00000322101	NM_001004758.1	250	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31362.1	750	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000322754	.	1/1	.	.	.	.	.	.	.	.	rs774779619	1/1	PASS	ENST00000322101	Transcript	.	.	ENSG00000176922	15204	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O51S1_HUMAN	OR51S1	HGNC	.	.	UPI0000041C33	SNV	OR51S1,synonymous_variant,p.%3D,ENST00000322101,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	826	94	112	SUCCESS
CCDC88B	283234	.	GRCh37	11	64111617	64111617	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769104707	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	59	0	ENST00000356786.5:c.1604C>T	p.Pro535Leu	p.P535L	ENST00000356786	NM_032251.5	535	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS8072.2	1604	MUTECT|MUSE	.	TCCCCCGGCAT	NONE	byFrequency	.	hmmpanther:PTHR18947:SF29,hmmpanther:PTHR18947	.	.	ENSP00000349238	.	14/27	.	.	.	.	.	.	.	.	rs769104707,COSM689726	14/27	PASS	ENST00000356786	Transcript	.	.	ENSG00000168071	26757	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.002)	.	tolerated_low_confidence(0.68)	0,1	CC88B_HUMAN	CCDC88B	HGNC	.	.	UPI00001FAAA6	SNV	CCDC88B,missense_variant,p.Pro535Leu,ENST00000356786,;CCDC88B,upstream_gene_variant,,ENST00000359902,;CCDC88B,upstream_gene_variant,,ENST00000301897,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494566,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000492980,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;	1648	59	58	SUCCESS
KSR2	283455	.	GRCh37	12	118198839	118198839	+	synonymous_variant	Silent	SNP	G	G	A	rs1025244189	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	6	82	0	ENST00000339824.5:c.963C>T	p.Arg321=	p.R321=	ENST00000339824		321	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	.	963	MUTECT|MUSE	.	TCCACGCGGTG	NONE	.	.	.	.	.	ENSP00000339952	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,synonymous_variant,p.%3D,ENST00000425217,;KSR2,synonymous_variant,p.%3D,ENST00000339824,;	1691	82	90	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1949905	1949905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	34	0	ENST00000382722.5:c.2551G>A	p.Ala851Thr	p.A851T	ENST00000382722	NM_172364.4	851	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44785.1	2551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCTGCAG	NONE	.	.	hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166	.	.	ENSP00000372169	.	26/38	.	.	.	.	.	.	.	.	.	26/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0.01)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Ala712Thr,ENST00000585732,;CACNA2D4,missense_variant,p.Ala826Thr,ENST00000587995,;CACNA2D4,missense_variant,p.Ala851Thr,ENST00000586184,;CACNA2D4,missense_variant,p.Ala851Thr,ENST00000382722,;CACNA2D4,missense_variant,p.Ala787Thr,ENST00000588077,;CACNA2D4,missense_variant,p.Ala787Thr,ENST00000585708,;LRTM2,downstream_gene_variant,,ENST00000535041,;LRTM2,downstream_gene_variant,,ENST00000543818,;LRTM2,downstream_gene_variant,,ENST00000299194,;CACNA2D4,downstream_gene_variant,,ENST00000539048,;LRTM2,downstream_gene_variant,,ENST00000543730,;CACNA2D4,missense_variant,p.Ala132Thr,ENST00000537784,;CACNA2D4,splice_region_variant,,ENST00000280663,;CACNA2D4,splice_region_variant,,ENST00000444595,;	2914	34	20	SUCCESS
KRT73	319101	.	GRCh37	12	53007536	53007536	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778766158	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	70	0	ENST00000305748.3:c.920G>A	p.Arg307His	p.R307H	ENST00000305748	NM_175068.2	307	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8834.1	920	MUTECT|MUSE	.	GGGCACGGACC	NONE	byFrequency	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Pfam_domain:PF00038	.	.	ENSP00000307014	.	5/9	.	.	.	.	.	.	.	.	rs778766158	5/9	PASS	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.243)	.	tolerated(0.06)	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,missense_variant,p.Arg52His,ENST00000552855,;KRT73,missense_variant,p.Arg307His,ENST00000305748,;RP11-641A6.2,non_coding_transcript_exon_variant,,ENST00000549180,;RP11-641A6.2,non_coding_transcript_exon_variant,,ENST00000552364,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	955	70	81	SUCCESS
MYO1A	4640	.	GRCh37	12	57442030	57442030	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778478106	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	53	1	ENST00000300119.3:c.78G>T	p.Lys26Asn	p.K26N	ENST00000300119	NM_005379.3	26	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS8929.1	78	MUTECT|MUSE	.	AGATTCTTGAG	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF291,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000393392	.	3/29	.	.	.	.	.	.	.	.	rs778478106,COSM192216	3/29	PASS	ENST00000442789	Transcript	.	.	ENSG00000166866	7595	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.052)	.	tolerated(0.5)	0,1	MYO1A_HUMAN	MYO1A	HGNC	Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN	.	UPI000012FAC2	SNV	MYO1A,missense_variant,p.Lys26Asn,ENST00000300119,;MYO1A,missense_variant,p.Lys26Asn,ENST00000433964,;MYO1A,missense_variant,p.Lys26Asn,ENST00000442789,;MYO1A,intron_variant,,ENST00000492945,;MYO1A,upstream_gene_variant,,ENST00000544473,;MYO1A,non_coding_transcript_exon_variant,,ENST00000471791,;MYO1A,upstream_gene_variant,,ENST00000554234,;	366	54	73	SUCCESS
CLEC4E	26253	.	GRCh37	12	8693519	8693519	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	31	0	ENST00000299663.3:c.-126A>G		p.*42*	ENST00000299663	NM_014358.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8594.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTTGTCT	NONE	.	.	.	.	.	ENSP00000299663	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000299663	Transcript	.	.	ENSG00000166523	14555	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLC4E_HUMAN	CLEC4E	HGNC	.	.	UPI0000037798	SNV	CLEC4E,5_prime_UTR_variant,,ENST00000299663,;CLEC4E,upstream_gene_variant,,ENST00000545274,;CLEC4E,upstream_gene_variant,,ENST00000446457,;CLEC4E,upstream_gene_variant,,ENST00000537698,;CLEC4E,upstream_gene_variant,,ENST00000450725,;CLEC4E,upstream_gene_variant,,ENST00000446809,;	41	31	46	SUCCESS
SOHLH2	54937	.	GRCh37	13	36747876	36747876	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752308946	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	52	0	ENST00000379881.3:c.953G>T	p.Gly318Val	p.G318V	ENST00000379881	NM_017826.2	318	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS55896.1	1184	MUTECT|MUSE	.	AGCACCCATTC	NONE	.	.	hmmpanther:PTHR16223:SF16,hmmpanther:PTHR16223	.	.	ENSP00000451542	.	14/16	.	.	.	.	.	.	.	.	rs752308946	14/16	PASS	ENST00000554962	Transcript	.	.	ENSG00000120669	26026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	SOLH2_HUMAN	SOHLH2	HGNC	.	.	UPI00017A803A	SNV	SOHLH2,missense_variant,p.Gly318Val,ENST00000379881,;CCDC169-SOHLH2,missense_variant,p.Gly395Val,ENST00000511166,;SOHLH2,missense_variant,p.Gly395Val,ENST00000554962,;	1486	52	57	SUCCESS
FREM2	341640	.	GRCh37	13	39264479	39264479	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	11	133	0	ENST00000280481.7:c.2998C>G	p.Pro1000Ala	p.P1000A	ENST00000280481	NM_207361.4	1000	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS31960.1	2998	MUTECT|MUSE	.	GCATTCCAGCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.06)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Pro1000Ala,ENST00000280481,;	3214	133	136	SUCCESS
GPR137C	283554	.	GRCh37	14	53098899	53098899	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	140	0	ENST00000321662.6:c.739G>A	p.Val247Ile	p.V247I	ENST00000321662	NM_001099652.1	247	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS45106.1	739	MUTECT|MUSE	.	AGACTGTCGTC	NONE	.	.	hmmpanther:PTHR15146:SF1,hmmpanther:PTHR15146	.	.	ENSP00000315106	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000321662	Transcript	.	.	ENSG00000180998	25445	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	tolerated(0.54)	.	G137C_HUMAN	GPR137C	HGNC	B3KW22_HUMAN	.	UPI0000043F5A	SNV	GPR137C,missense_variant,p.Val179Ile,ENST00000555622,;GPR137C,missense_variant,p.Val247Ile,ENST00000321662,;GPR137C,missense_variant,p.Val217Ile,ENST00000542169,;GPR137C,non_coding_transcript_exon_variant,,ENST00000555369,;	739	140	137	SUCCESS
DMXL2	23312	.	GRCh37	15	51868294	51868294	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762014970	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	33	0	ENST00000251076.5:c.172A>G	p.Ile58Val	p.I58V	ENST00000251076	NM_015263.3	58	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53946.1	172	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGATGTTTC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	2/43	.	.	.	.	.	.	.	.	rs762014970	2/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	tolerated(0.18)	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,missense_variant,p.Ile58Val,ENST00000449909,;DMXL2,missense_variant,p.Ile58Val,ENST00000543779,;DMXL2,missense_variant,p.Ile58Val,ENST00000251076,;DMXL2,non_coding_transcript_exon_variant,,ENST00000560421,;DMXL2,non_coding_transcript_exon_variant,,ENST00000558507,;	262	33	36	SUCCESS
MAPK6	5597	.	GRCh37	15	52342240	52342240	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	106	0	ENST00000261845.5:c.606T>G	p.Leu202=	p.L202=	ENST00000261845	NM_002748.3	202	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS10147.1	606	MUTECT|MUSE	.	CGTCTTTTACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF171,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01771	.	.	ENSP00000261845	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000261845	Transcript	.	.	ENSG00000069956	6879	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MK06_HUMAN	MAPK6	HGNC	.	.	UPI000012F177	SNV	MAPK6,synonymous_variant,p.%3D,ENST00000261845,;MAPK6,downstream_gene_variant,,ENST00000558100,;MAPK6,downstream_gene_variant,,ENST00000560774,;MAPK6,downstream_gene_variant,,ENST00000560254,;MAPK6,downstream_gene_variant,,ENST00000558841,;MAPK6,downstream_gene_variant,,ENST00000558063,;MAPK6,downstream_gene_variant,,ENST00000558891,;MAPK6,downstream_gene_variant,,ENST00000560802,;	1413	106	105	SUCCESS
POLG	5428	.	GRCh37	15	89866679	89866679	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751736420	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	87	0	ENST00000268124.5:c.2221G>T	p.Asp741Tyr	p.D741Y	ENST00000268124	NM_001126131.1	741	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10350.1	2221	MUTECT|MUSE	.	CACGTCGTTGT	NONE	byFrequency	.	Superfamily_domains:SSF56672,PIRSF_domain:PIRSF000797,Pfam_domain:PF00476,hmmpanther:PTHR10267:SF0,hmmpanther:PTHR10267	.	.	ENSP00000268124	.	13/23	.	.	.	.	.	.	.	.	rs751736420	13/23	PASS	ENST00000268124	Transcript	1	.	ENSG00000140521	9179	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DPOG1_HUMAN	POLG	HGNC	E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN	.	UPI000000D9E8	SNV	POLG,missense_variant,p.Asp741Tyr,ENST00000268124,;POLG,missense_variant,p.Asp741Tyr,ENST00000442287,;POLG,intron_variant,,ENST00000526314,;POLG,3_prime_UTR_variant,,ENST00000526398,;POLG,non_coding_transcript_exon_variant,,ENST00000532584,;POLG,downstream_gene_variant,,ENST00000533857,;POLG,upstream_gene_variant,,ENST00000528881,;POLG,downstream_gene_variant,,ENST00000526573,;POLG,upstream_gene_variant,,ENST00000530292,;POLG,downstream_gene_variant,,ENST00000532363,;POLG,upstream_gene_variant,,ENST00000530715,;	2555	87	90	SUCCESS
NF1	4763	.	GRCh37	17	29592318	29592318	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	17	246	0	ENST00000358273.4:c.4796C>A	p.Ser1599Tyr	p.S1599Y	ENST00000358273	NM_001042492.2	1599	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS42292.1	4796	MUTECT|MUSE	.	GACTTCCAAAG	NONE	.	.	SMART_domains:SM00516,Pfam_domain:PF13716,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194,PROSITE_profiles:PS50191	.	.	ENSP00000351015	.	36/58	.	.	.	.	.	.	.	.	CM077303,COSM3515865,COSM3515864	36/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Ser1244Tyr,ENST00000456735,;NF1,missense_variant,p.Ser1599Tyr,ENST00000358273,;NF1,missense_variant,p.Ser1578Tyr,ENST00000356175,;NF1,missense_variant,p.Ser1612Tyr,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000466819,;NF1,downstream_gene_variant,,ENST00000479614,;	5179	246	276	SUCCESS
NF1	4763	.	GRCh37	17	29657493	29657494	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TT	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	90	0	ENST00000358273.4:c.5790_5791insTT	p.Ile1931LeufsTer12	p.I1931Lfs*12	ENST00000358273	NM_001042492.2	1930	tgt/tgTTt	0	.	.	.	.	.	TT	C/CX	protein_coding	YES	CCDS42292.1	5789-5790	INDELOCATOR|VARSCANI	.	AGAGTGTATTT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	39/58	.	.	.	.	.	.	.	.	.	39/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	insertion	NF1,frameshift_variant,p.Ile1576LeufsTer12,ENST00000456735,;NF1,frameshift_variant,p.Ile1931LeufsTer12,ENST00000358273,;NF1,frameshift_variant,p.Ile1910LeufsTer12,ENST00000356175,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,frameshift_variant,p.Ile51LeufsTer?,ENST00000479536,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	6172-6173	90	100	SUCCESS
ACACA	31	.	GRCh37	17	35580444	35580444	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	70	0	ENST00000353139.5:c.3553G>A	p.Ala1185Thr	p.A1185T	ENST00000353139	NM_198834.1	1185	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42302.1	3553	MUTECT|MUSE	.	AGCTGCCATCC	NONE	.	.	hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF08326	.	.	ENSP00000344789	.	28/56	.	.	.	.	.	.	.	.	COSM3969992,COSM3969991	28/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.423)	.	deleterious(0)	1,1	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,missense_variant,p.Ala1090Thr,ENST00000360679,;ACACA,missense_variant,p.Ala1185Thr,ENST00000353139,;ACACA,missense_variant,p.Ala1148Thr,ENST00000394406,;ACACA,missense_variant,p.Ala1070Thr,ENST00000335166,;ACACA,non_coding_transcript_exon_variant,,ENST00000587720,;ACACA,upstream_gene_variant,,ENST00000587598,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	4035	70	77	SUCCESS
NAGLU	4669	.	GRCh37	17	40689487	40689487	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141018386	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	66	0	ENST00000225927.2:c.455G>A	p.Arg152Gln	p.R152Q	ENST00000225927	NM_000263.3	152	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11427.1	455	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGAGAGA	NONE	byCluster	.	hmmpanther:PTHR12872,Pfam_domain:PF05089,Superfamily_domains:SSF51445	.	A:0.0001	ENSP00000225927	.	2/6	.	.	.	.	.	.	.	.	rs141018386	2/6	PASS	ENST00000225927	Transcript	.	.	ENSG00000108784	7632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.41)	.	ANAG_HUMAN	NAGLU	HGNC	.	.	UPI000013C885	SNV	NAGLU,missense_variant,p.Arg48Gln,ENST00000590358,;NAGLU,missense_variant,p.Arg152Gln,ENST00000225927,;NAGLU,intron_variant,,ENST00000591587,;NAGLU,intron_variant,,ENST00000586516,;NAGLU,upstream_gene_variant,,ENST00000592454,;RP11-400F19.8,intron_variant,,ENST00000585572,;PTP4A2P1,downstream_gene_variant,,ENST00000590314,;	556	66	73	SUCCESS
PRKCA	5578	.	GRCh37	17	64800042	64800042	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141376042	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	83	0	ENST00000413366.3:c.1906G>A	p.Val636Ile	p.V636I	ENST00000413366	NM_002737.2	636	Gtc/Atc	0	A:0.0082	A:0.0076	.	A:0.0014	.	A	V/I	protein_coding	YES	CCDS11664.1	1906	MUTECT|MUSE|VARSCANS	.	AGCCCGTCTTA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51285,hmmpanther:PTHR24357:SF65,hmmpanther:PTHR24357,Pfam_domain:PF00433,PIRSF_domain:PIRSF000550,SMART_domains:SM00133	A:0	A:0.0001	ENSP00000408695	A:0	17/17	.	.	.	.	.	.	.	.	rs141376042	17/17	common_in_exac	ENST00000413366	Transcript	.	A:0.0022	ENSG00000154229	9393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	A:0	tolerated(0.18)	.	KPCA_HUMAN	PRKCA	HGNC	L7RSM7_HUMAN	.	UPI000013DD98	SNV	PRKCA,missense_variant,p.Val636Ile,ENST00000413366,;	1932	83	59	SUCCESS
MOCOS	55034	.	GRCh37	18	33767531	33767531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	24	0	ENST00000261326.5:c.29G>T	p.Arg10Leu	p.R10L	ENST00000261326	NM_017947.2	10	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS11919.1	29	RADIA|MUSE	.	AGGGCGGGAGC	NONE	.	.	.	.	.	ENSP00000261326	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.28)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Arg10Leu,ENST00000261326,;RP11-49I11.1,upstream_gene_variant,,ENST00000568654,;	50	24	33	SUCCESS
PRKACA	5566	.	GRCh37	19	14208612	14208612	+	synonymous_variant	Silent	SNP	C	C	T	rs763611702	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	81	0	ENST00000308677.4:c.510G>A	p.Pro170=	p.P170=	ENST00000308677	NM_002730.3	170	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12304.1	510	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCGGCTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF55,hmmpanther:PTHR24353,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000309591	.	6/10	.	.	.	.	.	.	.	.	rs763611702	6/10	PASS	ENST00000308677	Transcript	1	.	ENSG00000072062	9380	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAPCA_HUMAN	PRKACA	HGNC	K7EMV1_HUMAN	.	UPI0000001C8D	SNV	PRKACA,synonymous_variant,p.%3D,ENST00000593092,;PRKACA,synonymous_variant,p.%3D,ENST00000308677,;PRKACA,synonymous_variant,p.%3D,ENST00000587372,;PRKACA,synonymous_variant,p.%3D,ENST00000589994,;PRKACA,intron_variant,,ENST00000590853,;PRKACA,non_coding_transcript_exon_variant,,ENST00000350356,;PRKACA,non_coding_transcript_exon_variant,,ENST00000588209,;PRKACA,non_coding_transcript_exon_variant,,ENST00000536649,;PRKACA,non_coding_transcript_exon_variant,,ENST00000587533,;	707	81	89	SUCCESS
ZNF430	80264	.	GRCh37	19	21216304	21216304	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	17	136	0	ENST00000261560.5:c.139G>T	p.Glu47Ter	p.E47*	ENST00000261560	NM_025189.3	47	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS32978.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGAGGAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF41,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000261560	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,stop_gained,p.Glu47Ter,ENST00000595401,;ZNF430,stop_gained,p.Glu47Ter,ENST00000594110,;ZNF430,stop_gained,p.Glu47Ter,ENST00000599548,;ZNF430,stop_gained,p.Glu47Ter,ENST00000261560,;ZNF430,non_coding_transcript_exon_variant,,ENST00000595833,;	320	136	153	SUCCESS
SIGLEC16	400709	.	GRCh37	19	50472930	50472930	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs753603888	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	15	0	ENST00000602139.1:n.1C>T		p.*1*	ENST00000602139				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	GGTCCCGGGAC	NONE	byFrequency	.	.	.	.	.	.	1/10	.	.	.	.	.	.	.	.	rs753603888	1/10	PASS	ENST00000602139	Transcript	.	.	ENSG00000161643	24851	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SIGLEC16	HGNC	.	.	.	SNV	SIGLEC16,non_coding_transcript_exon_variant,,ENST00000602139,;SIGLEC16,non_coding_transcript_exon_variant,,ENST00000456956,;SIGLEC16,non_coding_transcript_exon_variant,,ENST00000417280,;SIGLEC16,upstream_gene_variant,,ENST00000599858,;	1	15	23	SUCCESS
SBK2	646643	.	GRCh37	19	56042689	56042689	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	30	0	ENST00000344158.3:c.277C>A	p.Leu93Ile	p.L93I	ENST00000344158		93	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS42631.1	277	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGCTGCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF293,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000389015	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000413299	Transcript	.	.	ENSG00000187550	34416	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	SBK2_HUMAN	SBK2	HGNC	.	.	UPI00015DFA43	SNV	SBK2,missense_variant,p.Leu93Ile,ENST00000413299,;SBK2,missense_variant,p.Leu93Ile,ENST00000344158,;	315	30	21	SUCCESS
PNPLA6	10908	.	GRCh37	19	7615936	7615936	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	41	0	ENST00000414982.3:c.2154G>A	p.Thr718=	p.T718=	ENST00000414982	NM_001166111.1	718	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54206.1	2154	RADIA|MUTECT|MUSE|VARSCANS	.	GACACGGAGCT	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,Pfam_domain:PF00027,hmmpanther:PTHR14226:SF26,hmmpanther:PTHR14226,PROSITE_profiles:PS50042	.	.	ENSP00000407509	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000414982	Transcript	1	.	ENSG00000032444	16268	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPL6_HUMAN	PNPLA6	HGNC	.	.	UPI0001AE63FF	SNV	PNPLA6,synonymous_variant,p.%3D,ENST00000450331,;PNPLA6,synonymous_variant,p.%3D,ENST00000600737,;PNPLA6,synonymous_variant,p.%3D,ENST00000545201,;PNPLA6,synonymous_variant,p.%3D,ENST00000221249,;PNPLA6,synonymous_variant,p.%3D,ENST00000414982,;PNPLA6,downstream_gene_variant,,ENST00000594864,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000599951,;PNPLA6,downstream_gene_variant,,ENST00000595889,;PNPLA6,downstream_gene_variant,,ENST00000599311,;PNPLA6,downstream_gene_variant,,ENST00000595176,;	2349	41	50	SUCCESS
CD46	4179	.	GRCh37	1	207934716	207934716	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	16	98	0	ENST00000358170.2:c.601del	p.Ser201HisfsTer32	p.S201Hfs*32	ENST00000358170	NM_002389.4	200	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS1482.1	598	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCCATTTTCA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,PIRSF_domain:PIRSF037971,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,PROSITE_profiles:PS50923	.	.	ENSP00000313875	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000322875	Transcript	.	.	ENSG00000117335	6953	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCP_HUMAN	CD46	HGNC	Q06C42_HUMAN	.	UPI000015FF6E	deletion	CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000360212,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000322918,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000358170,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000354848,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000367042,;CD46,frameshift_variant,p.Ser138HisfsTer32,ENST00000367047,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000361067,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000441839,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000480003,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000357714,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000367041,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000322875,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,downstream_gene_variant,,ENST00000493796,;CD46,non_coding_transcript_exon_variant,,ENST00000464082,;RP11-454L1.2,upstream_gene_variant,,ENST00000435216,;	754	98	134	SUCCESS
ZBTB40	9923	.	GRCh37	1	22838185	22838185	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	15	159	0	ENST00000375647.4:c.2019A>C	p.Glu673Asp	p.E673D	ENST00000375647	NM_014870.3	673	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS224.1	2019	MUTECT|MUSE	.	AAGGAAGATGG	NONE	.	.	hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394	.	.	ENSP00000384527	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.19)	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,missense_variant,p.Glu673Asp,ENST00000404138,;ZBTB40,missense_variant,p.Glu673Asp,ENST00000375647,;ZBTB40,missense_variant,p.Glu561Asp,ENST00000374651,;	2530	159	192	SUCCESS
PCNXL2	0	.	GRCh37	1	233394746	233394746	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	66	1	ENST00000258229.9:c.862G>C	p.Val288Leu	p.V288L	ENST00000258229	NM_014801.3	288	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS44335.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACAGGTT	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.86)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Val288Leu,ENST00000258229,;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,upstream_gene_variant,,ENST00000475463,;	1097	67	84	SUCCESS
OR2W5	0	.	GRCh37	1	247655366	247655366	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	68	0	ENST00000530852.2:n.997G>T		p.*333*	ENST00000530852				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	GCTGGGGAGCC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	COSM230897	1/1	PASS	ENST00000530852	Transcript	.	.	ENSG00000203664	15424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	OR2W5	HGNC	.	.	.	SNV	OR2W5,non_coding_transcript_exon_variant,,ENST00000522351,;OR2W5,non_coding_transcript_exon_variant,,ENST00000530852,;OR2W5,non_coding_transcript_exon_variant,,ENST00000366492,;	997	68	75	SUCCESS
EPHA10	284656	.	GRCh37	1	38227457	38227457	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	68	0	ENST00000373048.4:c.470C>T	p.Ala157Val	p.A157V	ENST00000373048	NM_001099439.1	157	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41305.1	470	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCGCCGCG	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000362139	.	3/17	.	.	.	.	.	.	.	.	COSM393973	3/17	PASS	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,missense_variant,p.Ala157Val,ENST00000319637,;EPHA10,missense_variant,p.Ala157Val,ENST00000427468,;EPHA10,missense_variant,p.Ala157Val,ENST00000373048,;	470	68	59	SUCCESS
GUCA2A	2980	.	GRCh37	1	42629210	42629210	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	90	0	ENST00000357001.2:c.147G>T	p.Arg49Ser	p.R49S	ENST00000357001	NM_033553.2	49	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS465.1	147	MUTECT|MUSE	.	CCAACCCTGGG	NONE	.	.	hmmpanther:PTHR11318,hmmpanther:PTHR11318:SF3,Pfam_domain:PF02058,Gene3D:1o8rA00,PIRSF_domain:PIRSF001849,Superfamily_domains:0041741	.	.	ENSP00000349493	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000357001	Transcript	.	.	ENSG00000197273	4682	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.079)	.	tolerated(0.35)	.	GUC2A_HUMAN	GUCA2A	HGNC	.	.	UPI000013CC23	SNV	GUCA2A,missense_variant,p.Arg49Ser,ENST00000357001,;	153	90	87	SUCCESS
DMAP1	55929	.	GRCh37	1	44684852	44684852	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770456146	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	53	0	ENST00000315913.5:c.845G>A	p.Arg282Gln	p.R282Q	ENST00000315913		282	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS509.1	845	MUTECT|MUSE	.	GCAGCGGCGCA	NONE	.	.	hmmpanther:PTHR12855:SF10,hmmpanther:PTHR12855,Pfam_domain:PF05499	.	.	ENSP00000361363	.	6/10	.	.	.	.	.	.	.	.	rs770456146	6/10	PASS	ENST00000372289	Transcript	.	.	ENSG00000178028	18291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.459)	.	tolerated(0.18)	.	DMAP1_HUMAN	DMAP1	HGNC	Q5TG40_HUMAN,Q5TG38_HUMAN,B4DQG8_HUMAN	.	UPI00001294C6	SNV	DMAP1,missense_variant,p.Arg282Gln,ENST00000315913,;DMAP1,missense_variant,p.Arg282Gln,ENST00000446292,;DMAP1,missense_variant,p.Arg282Gln,ENST00000361745,;DMAP1,missense_variant,p.Arg282Gln,ENST00000372289,;ERI3,downstream_gene_variant,,ENST00000372259,;DMAP1,downstream_gene_variant,,ENST00000437511,;ERI3,downstream_gene_variant,,ENST00000372257,;DMAP1,downstream_gene_variant,,ENST00000372290,;DMAP1,downstream_gene_variant,,ENST00000436069,;ERI3,downstream_gene_variant,,ENST00000537474,;DMAP1,downstream_gene_variant,,ENST00000440641,;ERI3,downstream_gene_variant,,ENST00000456170,;DMAP1,non_coding_transcript_exon_variant,,ENST00000488433,;DMAP1,non_coding_transcript_exon_variant,,ENST00000483741,;ERI3,downstream_gene_variant,,ENST00000479101,;DMAP1,downstream_gene_variant,,ENST00000475794,;DMAP1,downstream_gene_variant,,ENST00000471829,;ERI3,downstream_gene_variant,,ENST00000489710,;DMAP1,downstream_gene_variant,,ENST00000487922,;DMAP1,upstream_gene_variant,,ENST00000494092,;ERI3,downstream_gene_variant,,ENST00000462341,;DMAP1,downstream_gene_variant,,ENST00000463950,;	1108	53	71	SUCCESS
C20orf173	140873	.	GRCh37	20	34116559	34116559	+	synonymous_variant	Silent	SNP	G	G	A	rs547262885	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	39	0	ENST00000246199.2:c.300C>T	p.Asn100=	p.N100=	ENST00000246199		100	aaC/aaT	0	.	A:0	.	A:0	.	A	N	protein_coding	YES	CCDS46594.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCGTTGCC	NONE	by1000G	.	hmmpanther:PTHR13713:SF43,hmmpanther:PTHR13713	A:0	.	ENSP00000403566	A:0.001	3/6	.	.	.	.	.	.	.	.	rs547262885	3/6	PASS	ENST00000444723	Transcript	.	A:0.0002	ENSG00000125975	16166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CT173_HUMAN	C20orf173	HGNC	Q4VXS0_HUMAN,Q4VXR9_HUMAN	.	UPI0001948489	SNV	C20orf173,synonymous_variant,p.%3D,ENST00000444723,;C20orf173,synonymous_variant,p.%3D,ENST00000374345,;C20orf173,synonymous_variant,p.%3D,ENST00000246199,;C20orf173,downstream_gene_variant,,ENST00000424444,;RP3-477O4.5,upstream_gene_variant,,ENST00000422009,;RP3-477O4.5,non_coding_transcript_exon_variant,,ENST00000419294,;	604	39	46	SUCCESS
AURKA	6790	.	GRCh37	20	54958068	54958068	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	74	0	ENST00000312783.6:c.539G>A	p.Arg180Lys	p.R180K	ENST00000312783	NM_198436.1	180	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS13451.1	539	MUTECT|MUSE	.	CTTCTCTTCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24350,hmmpanther:PTHR24350:SF5,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000379245	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000395909	Transcript	.	.	ENSG00000087586	11393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	AURKA_HUMAN	AURKA	HGNC	Q5QPD4_HUMAN,Q5QPD2_HUMAN,Q5QPD1_HUMAN,A3KFJ2_HUMAN,A3KFJ1_HUMAN	.	UPI000013C70F	SNV	AURKA,missense_variant,p.Arg180Lys,ENST00000395909,;AURKA,missense_variant,p.Arg180Lys,ENST00000395913,;AURKA,missense_variant,p.Arg180Lys,ENST00000420474,;AURKA,missense_variant,p.Arg180Lys,ENST00000347343,;AURKA,missense_variant,p.Arg180Lys,ENST00000371356,;AURKA,missense_variant,p.Arg180Lys,ENST00000395915,;AURKA,missense_variant,p.Arg180Lys,ENST00000441357,;AURKA,missense_variant,p.Arg180Lys,ENST00000395907,;AURKA,missense_variant,p.Arg180Lys,ENST00000395911,;AURKA,missense_variant,p.Arg180Lys,ENST00000395914,;AURKA,missense_variant,p.Arg180Lys,ENST00000312783,;AURKA,downstream_gene_variant,,ENST00000456249,;AURKA,downstream_gene_variant,,ENST00000422322,;AURKA,downstream_gene_variant,,ENST00000451915,;	1105	74	86	SUCCESS
SCAF4	57466	.	GRCh37	21	33077755	33077755	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	17	270	0	ENST00000286835.7:c.140T>A	p.Val47Glu	p.V47E	ENST00000286835	NM_020706.2	47	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS33537.1	140	MUTECT|MUSE	.	TTTCTACTATT	NONE	.	.	Superfamily_domains:SSF48464,SMART_domains:SM00582,Gene3D:1.25.40.90,hmmpanther:PTHR14124,hmmpanther:PTHR14124:SF2,PROSITE_profiles:PS51391	.	.	ENSP00000286835	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000286835	Transcript	.	.	ENSG00000156304	19304	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	SFR15_HUMAN	SCAF4	HGNC	Q0P607_HUMAN	.	UPI0000206D66	SNV	SCAF4,missense_variant,p.Val47Glu,ENST00000399804,;SCAF4,missense_variant,p.Val47Glu,ENST00000286835,;SCAF4,intron_variant,,ENST00000434667,;SCAF4,non_coding_transcript_exon_variant,,ENST00000485790,;SCAF4,upstream_gene_variant,,ENST00000467731,;HMGN1P2,upstream_gene_variant,,ENST00000445197,;	523	270	257	SUCCESS
AP000322.53	0	.	GRCh37	21	35791666	35791666	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	48	0	ENST00000450895.1:c.270T>C	p.Ser90=	p.S90=	ENST00000450895		90	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	.	270	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCAGAGGT	NONE	.	.	.	.	.	ENSP00000397039	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000450895	Transcript	.	.	ENSG00000243627	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	YU007_HUMAN	AP000322.53	Clone_based_vega_gene	.	.	UPI00001D833E	SNV	AP000322.53,synonymous_variant,p.%3D,ENST00000450895,;	397	48	42	SUCCESS
MICAL3	57553	.	GRCh37	22	18301464	18301464	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	45	0	ENST00000441493.2:c.3963C>T	p.Ser1321=	p.S1321=	ENST00000441493	NM_015241.2	1321	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46659.1	3963	MUTECT|MUSE	.	AGGTCGCTCCG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;	4316	45	41	SUCCESS
APOL4	80832	.	GRCh37	22	36587462	36587462	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	62	0	ENST00000352371.1:c.714C>T	p.Ala238=	p.A238=	ENST00000352371		238	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	.	714	MUTECT|MUSE	.	TTTGTGGCTTC	NONE	.	.	hmmpanther:PTHR14096:SF25,hmmpanther:PTHR14096,Pfam_domain:PF05461	.	.	ENSP00000338260	.	6/6	.	.	.	.	.	.	.	.	COSM580105	6/6	PASS	ENST00000352371	Transcript	.	.	ENSG00000100336	14867	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	APOL4	HGNC	J3KNR9_HUMAN	.	UPI000013C6CD	SNV	APOL4,synonymous_variant,p.%3D,ENST00000332987,;APOL4,synonymous_variant,p.%3D,ENST00000352371,;APOL4,3_prime_UTR_variant,,ENST00000404685,;APOL4,3_prime_UTR_variant,,ENST00000405511,;APOL4,3_prime_UTR_variant,,ENST00000429038,;APOL4,downstream_gene_variant,,ENST00000449084,;APOL4,downstream_gene_variant,,ENST00000419360,;APOL4,downstream_gene_variant,,ENST00000457630,;APOL4,non_coding_transcript_exon_variant,,ENST00000479929,;APOL4,non_coding_transcript_exon_variant,,ENST00000524531,;APOL4,downstream_gene_variant,,ENST00000493203,;	939	62	81	SUCCESS
NPTXR	23467	.	GRCh37	22	39222683	39222683	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	61	0	ENST00000333039.2:c.920C>A	p.Ala307Asp	p.A307D	ENST00000333039	NM_014293.3	307	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33647.1	920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGGCGTAC	NONE	.	.	hmmpanther:PTHR19277:SF94,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000327545	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000333039	Transcript	.	.	ENSG00000221890	7954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	NPTXR_HUMAN	NPTXR	HGNC	.	.	UPI00001B0258	SNV	NPTXR,missense_variant,p.Ala307Asp,ENST00000333039,;	1044	61	80	SUCCESS
SYNGR1	9145	.	GRCh37	22	39746105	39746105	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	41	0	ENST00000328933.5:c.90C>A	p.Val30=	p.V30=	ENST00000328933	NM_004711.4	30	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13989.1	90	MUTECT|MUSE|VARSCANS	.	CGCGTCGTGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR10838,hmmpanther:PTHR10838:SF7,Pfam_domain:PF01284,PIRSF_domain:PIRSF011282	.	.	ENSP00000332287	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000328933	Transcript	.	.	ENSG00000100321	11498	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNG1_HUMAN	SYNGR1	HGNC	.	.	UPI000013C6CB	SNV	SYNGR1,synonymous_variant,p.%3D,ENST00000328933,;SYNGR1,synonymous_variant,p.%3D,ENST00000318801,;SYNGR1,synonymous_variant,p.%3D,ENST00000406293,;SYNGR1,synonymous_variant,p.%3D,ENST00000216155,;SYNGR1,synonymous_variant,p.%3D,ENST00000415332,;SYNGR1,non_coding_transcript_exon_variant,,ENST00000489206,;	105	41	51	SUCCESS
CXCR4	7852	.	GRCh37	2	136872511	136872511	+	synonymous_variant	Silent	SNP	G	G	A	rs1284991536	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	20	160	0	ENST00000241393.3:c.987C>T	p.Leu329=	p.L329=	ENST00000241393	NM_003467.2	329	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33295.1	999	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGAGGAT	NONE	.	.	hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF7,Prints_domain:PR00645	.	.	ENSP00000386884	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000409817	Transcript	.	.	ENSG00000121966	2561	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CXCR4_HUMAN	CXCR4	HGNC	Q5MIL4_HUMAN	.	UPI000002A5E3	SNV	CXCR4,synonymous_variant,p.%3D,ENST00000241393,;CXCR4,synonymous_variant,p.%3D,ENST00000409817,;CXCR4,non_coding_transcript_exon_variant,,ENST00000466288,;	1303	160	193	SUCCESS
BAZ2B	29994	.	GRCh37	2	160310259	160310259	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs746086944	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	9	96	0	ENST00000392783.2:c.199A>C	p.Ser67Arg	p.S67R	ENST00000392783	NM_013450.2	67	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS2209.2	199	MUTECT|MUSE	.	GGCACTCGACA	NONE	.	.	.	.	.	ENSP00000376534	.	4/37	.	.	.	.	.	.	.	.	rs746086944	4/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.307)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Ser67Arg,ENST00000355831,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000392782,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000437839,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000343439,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000392783,;BAZ2B,intron_variant,,ENST00000541068,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000482503,;BAZ2B,downstream_gene_variant,,ENST00000483316,;BAZ2B,intron_variant,,ENST00000467184,;	695	96	109	SUCCESS
SCN3A	6328	.	GRCh37	2	165947139	165947139	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	20	213	0	ENST00000360093.3:c.5524G>C	p.Val1842Leu	p.V1842L	ENST00000360093	NM_001081677.1	1842	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS33312.1	5524	MUTECT|MUSE|VARSCANS	.	ACTGACCATGG	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037	.	.	ENSP00000283254	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Val1842Leu,ENST00000360093,;SCN3A,missense_variant,p.Val1842Leu,ENST00000283254,;SCN3A,missense_variant,p.Val325Leu,ENST00000540861,;SCN3A,missense_variant,p.Val1793Leu,ENST00000409101,;AC013463.2,intron_variant,,ENST00000431341,;SCN3A,downstream_gene_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	5992	213	250	SUCCESS
TTN	7273	.	GRCh37	2	179584040	179584040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	92	0	ENST00000591111.1:c.23126T>C	p.Val7709Ala	p.V7709A	ENST00000591111		7709	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS59435.1	24077	MUTECT|MUSE	.	CACTAACAATC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	83/363	.	.	.	.	.	.	.	.	.	83/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val6782Ala,ENST00000342992,;TTN,missense_variant,p.Val7709Ala,ENST00000591111,;TTN,missense_variant,p.Val8026Ala,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	24302	92	104	SUCCESS
SESTD1	91404	.	GRCh37	2	179997118	179997118	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	67	0	ENST00000428443.3:c.885A>G	p.Gln295=	p.Q295=	ENST00000428443	NM_178123.4	295	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS33338.1	885	MUTECT|MUSE	.	CTTAGTTGTTC	NONE	.	.	Gene3D:1.20.58.60,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19	.	.	ENSP00000415332	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	SNV	SESTD1,synonymous_variant,p.%3D,ENST00000428443,;SESTD1,synonymous_variant,p.%3D,ENST00000426988,;SESTD1,non_coding_transcript_exon_variant,,ENST00000489901,;SESTD1,intron_variant,,ENST00000335289,;	1202	67	88	SUCCESS
CD8B	926	.	GRCh37	2	87073896	87073896	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	400	33	444	0	ENST00000390655.6:c.494G>A	p.Gly165Asp	p.G165D	ENST00000390655	NM_004931.4	165	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1995.1	494	MUTECT|MUSE	.	GTGGGCCTGGA	NONE	.	.	hmmpanther:PTHR11292	.	.	ENSP00000331172	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000331469	Transcript	.	.	ENSG00000172116	1707	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.664)	.	deleterious(0.03)	.	CD8B_HUMAN	CD8B	HGNC	Q8TD28_HUMAN,B4E0F8_HUMAN	.	UPI0000160A12	SNV	CD8B,missense_variant,p.Gly165Asp,ENST00000390655,;CD8B,missense_variant,p.Gly165Asp,ENST00000393759,;CD8B,missense_variant,p.Gly165Asp,ENST00000331469,;CD8B,intron_variant,,ENST00000349455,;CD8B,intron_variant,,ENST00000431506,;CD8B,intron_variant,,ENST00000393761,;	544	444	433	SUCCESS
SLC6A11	6538	.	GRCh37	3	10916662	10916662	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	47	0	ENST00000254488.2:c.773C>T	p.Ala258Val	p.A258V	ENST00000254488	NM_014229.1	258	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2602.1	773	MUTECT|MUSE	.	GACTGCGACAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000254488	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000254488	Transcript	.	.	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Ala258Val,ENST00000254488,;	839	47	53	SUCCESS
HHATL	57467	.	GRCh37	3	42738590	42738590	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202043526	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	105	0	ENST00000310417.5:c.913G>A	p.Val305Ile	p.V305I	ENST00000310417		305	Gtc/Atc	0	.	T:0.0008	.	T:0	.	T	V/I	protein_coding	YES	CCDS2704.1	913	MUTECT|MUSE	.	GAGGACGGCCG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13285:SF19,hmmpanther:PTHR13285,Pfam_domain:PF03062	T:0	.	ENSP00000405423	T:0	8/12	.	.	.	.	.	.	.	.	rs202043526	8/12	PASS	ENST00000441594	Transcript	.	T:0.0002	ENSG00000010282	13242	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.396)	T:0	deleterious(0.02)	.	HHATL_HUMAN	HHATL	HGNC	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN	.	UPI000012DC51	SNV	HHATL,missense_variant,p.Val305Ile,ENST00000310417,;HHATL,missense_variant,p.Val240Ile,ENST00000457462,;HHATL,missense_variant,p.Val305Ile,ENST00000441594,;HHATL,missense_variant,p.Val2Ile,ENST00000426666,;HHATL,downstream_gene_variant,,ENST00000417472,;KLHL40,downstream_gene_variant,,ENST00000287777,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000416756,;HHATL,downstream_gene_variant,,ENST00000442469,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,downstream_gene_variant,,ENST00000497000,;HHATL,upstream_gene_variant,,ENST00000480939,;HHATL,upstream_gene_variant,,ENST00000466007,;HHATL,upstream_gene_variant,,ENST00000490003,;	1175	105	110	SUCCESS
DNAH12	201625	.	GRCh37	3	57488148	57488148	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	11	117	0	ENST00000351747.2:c.1145C>A	p.Thr382Lys	p.T382K	ENST00000351747	NM_178504.4	382	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS33771.1	1145	MUTECT|MUSE	.	GTTCTGTGTCA	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676	.	.	ENSP00000312554	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000311202	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.187)	.	deleterious(0)	.	DYH12_HUMAN	DNAH12	HGNC	.	.	UPI000036716B	SNV	DNAH12,missense_variant,p.Thr382Lys,ENST00000351747,;DNAH12,missense_variant,p.Thr382Lys,ENST00000389536,;DNAH12,missense_variant,p.Thr382Lys,ENST00000311202,;DNAH12,missense_variant,p.Thr382Lys,ENST00000495027,;	1323	117	143	SUCCESS
OXTR	5021	.	GRCh37	3	8809008	8809008	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1244817296	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	79	0	ENST00000316793.3:c.866C>T	p.Thr289Met	p.T289M	ENST00000316793	NM_000916.3	289	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS2570.1	866	MUTECT|MUSE|VARSCANS	.	AAGGCGTCCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF19,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000324270	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000316793	Transcript	.	.	ENSG00000180914	8529	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.916)	.	deleterious(0.01)	.	OXYR_HUMAN	OXTR	HGNC	C9JQC4_HUMAN,C9JN09_HUMAN,B2R9L7_HUMAN	.	UPI000013FEA9	SNV	OXTR,missense_variant,p.Thr289Met,ENST00000316793,;OXTR,downstream_gene_variant,,ENST00000431493,;OXTR,downstream_gene_variant,,ENST00000449615,;hsa-mir-548ba,upstream_gene_variant,,ENST00000579477,;CAV3,intron_variant,,ENST00000472766,;OXTR,downstream_gene_variant,,ENST00000474615,;	1491	79	103	SUCCESS
TKTL2	84076	.	GRCh37	4	164393857	164393857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	8	87	0	ENST00000280605.3:c.1030G>T	p.Gly344Cys	p.G344C	ENST00000280605	NM_032136.4	344	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS3805.1	1030	MUTECT|MUSE	.	GTCACCACTCA	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF02779,Gene3D:3.40.50.970,SMART_domains:SM00861,Superfamily_domains:SSF52518	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,missense_variant,p.Gly344Cys,ENST00000280605,;	1191	87	116	SUCCESS
CDKN2AIP	55602	.	GRCh37	4	184366140	184366140	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	13	105	1	ENST00000504169.1:c.190G>T	p.Glu64Ter	p.E64*	ENST00000504169	NM_017632.2	64	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34110.1	190	RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGAGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16148,hmmpanther:PTHR16148:SF5,Pfam_domain:PF11952	.	.	ENSP00000427108	.	1/3	.	.	.	.	.	.	.	.	COSM3940820	1/3	PASS	ENST00000504169	Transcript	.	.	ENSG00000168564	24325	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CARF_HUMAN	CDKN2AIP	HGNC	B3KTW3_HUMAN	.	UPI000004A077	SNV	CDKN2AIP,stop_gained,p.Glu64Ter,ENST00000302350,;CDKN2AIP,stop_gained,p.Glu64Ter,ENST00000510928,;CDKN2AIP,stop_gained,p.Glu64Ter,ENST00000504169,;CDKN2AIP,upstream_gene_variant,,ENST00000502924,;CDKN2AIP,upstream_gene_variant,,ENST00000506835,;	397	106	122	SUCCESS
ZFYVE28	57732	.	GRCh37	4	2306022	2306022	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771188616	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	16	0	ENST00000290974.2:c.2045G>A	p.Gly682Asp	p.G682D	ENST00000290974	NM_020972.2	682	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33942.1	2045	RADIA|MUSE	.	TGGAGCCCGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF140	.	.	ENSP00000290974	.	8/13	.	.	.	.	.	.	.	.	rs771188616	8/13	PASS	ENST00000290974	Transcript	.	.	ENSG00000159733	29334	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.31)	.	LST2_HUMAN	ZFYVE28	HGNC	Q49AA1_HUMAN,D6RID3_HUMAN	.	UPI00001C1E08	SNV	ZFYVE28,missense_variant,p.Gly652Asp,ENST00000511071,;ZFYVE28,missense_variant,p.Gly612Asp,ENST00000515312,;ZFYVE28,missense_variant,p.Gly682Asp,ENST00000290974,;RP11-478C1.7,intron_variant,,ENST00000510632,;	2385	16	25	SUCCESS
CCT5	22948	.	GRCh37	5	10250304	10250304	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	22	1	ENST00000280326.4:c.-149C>A		p.*50*	ENST00000280326	NM_012073.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3877.1	.	MUTECT|MUSE	.	TCTGGCGTGAA	NONE	.	.	.	.	.	ENSP00000280326	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000280326	Transcript	1	.	ENSG00000150753	1618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCPE_HUMAN	CCT5	HGNC	Q9HB74_HUMAN,Q9BU08_HUMAN,Q96GI1_HUMAN,B7ZAR1_HUMAN	.	UPI0000001C34	SNV	CCT5,5_prime_UTR_variant,,ENST00000280326,;CCT5,intron_variant,,ENST00000503026,;FAM173B,upstream_gene_variant,,ENST00000511437,;FAM173B,upstream_gene_variant,,ENST00000280330,;CCT5,upstream_gene_variant,,ENST00000506600,;CCT5,upstream_gene_variant,,ENST00000515390,;FAM173B,upstream_gene_variant,,ENST00000510047,;CCT5,upstream_gene_variant,,ENST00000515676,;CTD-2256P15.1,downstream_gene_variant,,ENST00000509915,;FAM173B,upstream_gene_variant,,ENST00000510052,;CCT5,upstream_gene_variant,,ENST00000423695,;CCT5,upstream_gene_variant,,ENST00000512975,;FAM173B,upstream_gene_variant,,ENST00000506108,;CCT5,upstream_gene_variant,,ENST00000503454,;FAM173B,upstream_gene_variant,,ENST00000504390,;CCT5,upstream_gene_variant,,ENST00000510326,;CCT5,upstream_gene_variant,,ENST00000511700,;CCT5,upstream_gene_variant,,ENST00000508451,;FAM173B,upstream_gene_variant,,ENST00000508553,;	272	23	29	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140799054	140799054	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	73	0	ENST00000398594.2:c.1628G>T	p.Ser543Ile	p.S543I	ENST00000398594	NM_018927.3	543	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47293.1	1628	MUTECT|MUSE|VARSCANS	.	GCTCAGCGCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.703)	.	deleterious(0)	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,missense_variant,p.Ser543Ile,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1628	73	79	SUCCESS
ZNF300	91975	.	GRCh37	5	150275398	150275398	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	70	0	ENST00000274599.5:c.1403C>A	p.Thr468Asn	p.T468N	ENST00000274599	NM_052860.2	468	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54940.1	1451	MUTECT|MUSE	.	ATTCAGTACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF288,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000397178	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000446148	Transcript	.	.	ENSG00000145908	13091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.161)	.	tolerated(0.17)	.	.	ZNF300	HGNC	J3KQF6_HUMAN	.	UPI0001AE74AD	SNV	ZNF300,missense_variant,p.Thr432Asn,ENST00000418587,;ZNF300,missense_variant,p.Thr468Asn,ENST00000274599,;ZNF300,missense_variant,p.Thr468Asn,ENST00000394226,;ZNF300,missense_variant,p.Thr484Asn,ENST00000446148,;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	1879	70	90	SUCCESS
GFPT2	9945	.	GRCh37	5	179780211	179780211	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	43	0	ENST00000253778.8:c.7G>A	p.Gly3Arg	p.G3R	ENST00000253778	NM_005110.2	3	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS43411.1	7	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCGCACA	NONE	.	.	Superfamily_domains:SSF56235,Gene3D:3.60.20.10,Pfam_domain:PF00310,hmmpanther:PTHR10937:SF10,hmmpanther:PTHR10937,PROSITE_profiles:PS51278	.	.	ENSP00000253778	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000253778	Transcript	.	.	ENSG00000131459	4242	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GFPT2_HUMAN	GFPT2	HGNC	B3KM63_HUMAN	.	UPI000014F5AC	SNV	GFPT2,missense_variant,p.Gly3Arg,ENST00000253778,;GFPT2,upstream_gene_variant,,ENST00000503228,;GFPT2,splice_region_variant,,ENST00000518158,;GFPT2,splice_region_variant,,ENST00000503546,;	177	43	47	SUCCESS
C5orf51	285636	.	GRCh37	5	41904516	41904516	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	96	0	ENST00000381647.2:c.47G>A	p.Gly16Glu	p.G16E	ENST00000381647	NM_175921.4	16	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34151.1	47	MUTECT|MUSE|VARSCANS	.	GCTCGGGGATC	NONE	.	.	.	.	.	ENSP00000371061	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000381647	Transcript	.	.	ENSG00000205765	27750	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	CE051_HUMAN	C5orf51	HGNC	.	.	UPI00001D7FA4	SNV	C5orf51,missense_variant,p.Gly16Glu,ENST00000381647,;C5orf51,intron_variant,,ENST00000505931,;C5orf51,non_coding_transcript_exon_variant,,ENST00000509976,;	66	96	103	SUCCESS
ID4	3400	.	GRCh37	6	19838427	19838427	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	16	0	ENST00000378700.3:c.441+1G>A		p.X147_splice	ENST00000378700	NM_001546.3	147		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4544.1	.	MUTECT|MUSE	.	ACCCGGTGAGA	NONE	.	.	.	.	.	ENSP00000367972	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378700	Transcript	.	.	ENSG00000172201	5363	.	.	HIGH	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ID4_HUMAN	ID4	HGNC	.	.	UPI000012D193	SNV	ID4,splice_donor_variant,,ENST00000378700,;RP1-167F1.2,intron_variant,,ENST00000432171,;	.	16	33	SUCCESS
GRM4	2914	.	GRCh37	6	34003577	34003577	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	9	89	1	ENST00000538487.2:c.2310T>C	p.Tyr770=	p.Y770=	ENST00000538487	NM_000841.2	770	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS4787.1	2310	MUTECT|MUSE	.	ATGGCATACAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000440556	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,synonymous_variant,p.%3D,ENST00000544773,;GRM4,synonymous_variant,p.%3D,ENST00000374181,;GRM4,synonymous_variant,p.%3D,ENST00000609222,;GRM4,synonymous_variant,p.%3D,ENST00000455714,;GRM4,synonymous_variant,p.%3D,ENST00000535756,;GRM4,synonymous_variant,p.%3D,ENST00000374177,;GRM4,synonymous_variant,p.%3D,ENST00000538487,;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	2754	90	157	SUCCESS
ANKRD66	100287718	.	GRCh37	6	46726569	46726569	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	49	0	ENST00000565422.1:c.667C>T	p.Leu223Phe	p.L223F	ENST00000565422	NM_001162435.2	223	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS59024.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCTTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24193	.	.	ENSP00000454770	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000565422	Transcript	.	.	ENSG00000230062	44669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	tolerated(0.07)	.	ANR66_HUMAN	ANKRD66	HGNC	.	.	UPI0001F7E3C7	SNV	ANKRD66,missense_variant,p.Leu223Phe,ENST00000565422,;ANKRD66,missense_variant,p.Leu194Phe,ENST00000536046,;ANKRD66,downstream_gene_variant,,ENST00000445060,;RP11-268F1.3,non_coding_transcript_exon_variant,,ENST00000438738,;	672	49	70	SUCCESS
SLC13A1	6561	.	GRCh37	7	122774465	122774465	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	86	0	ENST00000194130.2:c.931A>T	p.Asn311Tyr	p.N311Y	ENST00000194130	NM_022444.3	311	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5786.1	931	MUTECT|MUSE	.	TTACTTGAATC	NONE	.	.	hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF65,Pfam_domain:PF00939	.	.	ENSP00000194130	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000194130	Transcript	.	.	ENSG00000081800	10916	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	S13A1_HUMAN	SLC13A1	HGNC	Q75MH3_HUMAN,Q75LT0_HUMAN,A4D0X1_HUMAN	.	UPI0000049F9D	SNV	SLC13A1,missense_variant,p.Asn311Tyr,ENST00000194130,;SLC13A1,splice_region_variant,,ENST00000539873,;SLC13A1,splice_region_variant,,ENST00000439260,;SLC13A1,splice_region_variant,,ENST00000427975,;	971	86	108	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138768681	138768681	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	68	0	ENST00000242351.5:c.542A>G	p.Asn181Ser	p.N181S	ENST00000242351	NM_020119.3	181	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS5851.1	542	MUTECT|MUSE	.	GACAGTTCCCT	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.899)	.	deleterious(0.04)	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,missense_variant,p.Asn181Ser,ENST00000471652,;ZC3HAV1,missense_variant,p.Asn181Ser,ENST00000464606,;ZC3HAV1,missense_variant,p.Asn181Ser,ENST00000242351,;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;	859	68	84	SUCCESS
SSPO	0	.	GRCh37	7	149520825	149520825	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	56	0	ENST00000378016.2:n.13402C>T		p.*4468*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCAGGCT	NONE	.	.	.	.	.	.	.	93/109	.	.	.	.	.	.	.	.	.	93/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000493567,;SSPO,intron_variant,,ENST00000488835,;SSPO,downstream_gene_variant,,ENST00000464974,;SSPO,upstream_gene_variant,,ENST00000472850,;SSPO,upstream_gene_variant,,ENST00000465639,;	13402	56	47	SUCCESS
ZNF517	340385	.	GRCh37	8	146033060	146033060	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	24	0	ENST00000359971.3:c.759C>T	p.Arg253=	p.R253=	ENST00000359971	NM_213605.2	253	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS6434.1	759	MUTECT|MUSE	.	CACCGCGTCCA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000353058	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359971	Transcript	.	.	ENSG00000197363	27984	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN517_HUMAN	ZNF517	HGNC	.	.	UPI000045770F	SNV	ZNF517,synonymous_variant,p.%3D,ENST00000359971,;ZNF517,synonymous_variant,p.%3D,ENST00000531720,;ZNF517,synonymous_variant,p.%3D,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,synonymous_variant,p.%3D,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,;	866	24	37	SUCCESS
SVEP1	79987	.	GRCh37	9	113192621	113192621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	113	0	ENST00000374469.1:c.5394G>T	p.Leu1798Phe	p.L1798F	ENST00000374469		1798	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS48004.1	5463	MUTECT|MUSE	.	CCCATCAACTG	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	33/48	.	.	.	.	.	.	.	.	.	33/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Leu1821Phe,ENST00000401783,;SVEP1,missense_variant,p.Leu1798Phe,ENST00000374469,;SVEP1,upstream_gene_variant,,ENST00000297826,;	5800	113	151	SUCCESS
KLHL9	55958	.	GRCh37	9	21334572	21334572	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	12	182	0	ENST00000359039.4:c.287A>C	p.His96Pro	p.H96P	ENST00000359039		96	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS6503.1	287	MUTECT|MUSE	.	CCCCATGAAGC	CODON|p.H96Q|c.288T>G|3,BUFFER|p.I93S|c.278T>G|3	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.03)	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,missense_variant,p.His28Pro,ENST00000537938,;KLHL9,missense_variant,p.His96Pro,ENST00000359039,;	808	182	183	SUCCESS
ATG4A	115201	.	GRCh37	X	107335011	107335011	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	35	0	ENST00000372232.3:c.-46C>G		p.*16*	ENST00000372232	NM_052936.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14538.1	.	MUTECT|MUSE	.	CCGTCCGTAGT	NONE	.	.	.	.	.	ENSP00000361306	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000372232	Transcript	.	.	ENSG00000101844	16489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATG4A_HUMAN	ATG4A	HGNC	.	.	UPI000000DCAF	SNV	ATG4A,5_prime_UTR_variant,,ENST00000372254,;ATG4A,5_prime_UTR_variant,,ENST00000372232,;ATG4A,5_prime_UTR_variant,,ENST00000345734,;ATG4A,5_prime_UTR_variant,,ENST00000457035,;PSMD10,upstream_gene_variant,,ENST00000340200,;PSMD10,upstream_gene_variant,,ENST00000361815,;PSMD10,upstream_gene_variant,,ENST00000372296,;ATG4A,upstream_gene_variant,,ENST00000545696,;PSMD10,upstream_gene_variant,,ENST00000372295,;PSMD10,upstream_gene_variant,,ENST00000217958,;PSMD10,upstream_gene_variant,,ENST00000338548,;ATG4A,upstream_gene_variant,,ENST00000343524,;ATG4A,upstream_gene_variant,,ENST00000372246,;PSMD10,upstream_gene_variant,,ENST00000553388,;	114	35	44	SUCCESS
KIAA1210	57481	.	GRCh37	X	118250523	118250523	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1312805334	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	11	116	0	ENST00000402510.2:c.586T>C	p.Ser196Pro	p.S196P	ENST00000402510	NM_020721.1	196	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS48156.1	586	MUTECT|MUSE|VARSCANS	.	GCTGGACAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036	.	.	ENSP00000384670	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.316)	.	tolerated(0.09)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Ser196Pro,ENST00000402510,;	586	116	139	SUCCESS
GRIA3	2892	.	GRCh37	X	122536848	122536848	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	479	28	466	1	ENST00000541091.1:c.1036C>A	p.Gln346Lys	p.Q346K	ENST00000541091		346	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS14604.1	1084	MUTECT|MUSE	.	AGGTGCAAGTA	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	8/16	.	.	.	.	.	.	.	.	COSM3843445,COSM3843447,COSM3843446,COSM3843448	8/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1,1	.	.	benign(0.042)	.	tolerated(0.13)	1,1,1,1	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,missense_variant,p.Gln362Lys,ENST00000371256,;GRIA3,missense_variant,p.Gln362Lys,ENST00000542149,;GRIA3,missense_variant,p.Gln362Lys,ENST00000264357,;GRIA3,missense_variant,p.Gln346Lys,ENST00000541091,;GRIA3,missense_variant,p.Gln362Lys,ENST00000371251,;	1376	467	507	SUCCESS
ARHGEF6	9459	.	GRCh37	X	135767837	135767837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	69	0	ENST00000250617.6:c.1391A>G	p.Glu464Gly	p.E464G	ENST00000250617	NM_004840.2	464	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS14660.1	1391	MUTECT|MUSE	.	TTACCTCACAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000250617	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000250617	Transcript	.	.	ENSG00000129675	685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	deleterious(0.01)	.	ARHG6_HUMAN	ARHGEF6	HGNC	.	.	UPI0000001C8E	SNV	ARHGEF6,missense_variant,p.Glu310Gly,ENST00000370620,;ARHGEF6,missense_variant,p.Glu464Gly,ENST00000250617,;ARHGEF6,missense_variant,p.Glu310Gly,ENST00000370622,;ARHGEF6,missense_variant,p.Glu337Gly,ENST00000535227,;	2597	69	65	SUCCESS
KLHL4	56062	.	GRCh37	X	86772799	86772799	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	58	0	ENST00000373119.4:c.-98G>A		p.*33*	ENST00000373119	NM_019117.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14456.1	.	MUTECT|MUSE	.	CTTGTGCTTTT	NONE	.	18	.	.	.	ENSP00000362206	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,5_prime_UTR_variant,,ENST00000373119,;KLHL4,upstream_gene_variant,,ENST00000373114,;	.	58	80	SUCCESS
KLHL4	56062	.	GRCh37	X	86772813	86772813	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	13	78	0	ENST00000373119.4:c.-84T>G		p.*28*	ENST00000373119	NM_019117.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14456.1	.	RADIA|MUTECT|MUSE	.	AGTTCTACAGA	NONE	.	4	.	.	.	ENSP00000362206	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,5_prime_UTR_variant,,ENST00000373119,;KLHL4,upstream_gene_variant,,ENST00000373114,;	.	78	105	SUCCESS
CPN1	1369	.	GRCh37	10	101823465	101823465	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	48	0	ENST00000370418.3:c.777C>A	p.Ser259=	p.S259=	ENST00000370418	NM_001308.2	259	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7486.1	777	RADIA|MUTECT|MUSE|VARSCANS	.	GCATAGGAGTA	NONE	.	.	hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000359446	.	5/9	.	.	.	.	.	.	.	.	COSM199885	5/9	nonpreferredpair	ENST00000370418	Transcript	1	.	ENSG00000120054	2312	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CBPN_HUMAN	CPN1	HGNC	B1AP59_HUMAN,B1AP58_HUMAN	.	UPI00000012AC	SNV	CPN1,synonymous_variant,p.%3D,ENST00000370418,;CPN1,synonymous_variant,p.%3D,ENST00000441382,;	1029	48	75	SUCCESS
LHPP	64077	.	GRCh37	10	126150438	126150438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	23	0	ENST00000368842.5:c.7C>T	p.Pro3Ser	p.P3S	ENST00000368842	NM_022126.3	3	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7640.1	7	MUTECT|MUSE	.	TGGCACCGTGG	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF29	.	.	ENSP00000357835	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000368842	Transcript	.	.	ENSG00000107902	30042	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.66)	.	LHPP_HUMAN	LHPP	HGNC	.	.	UPI00001402EE	SNV	LHPP,missense_variant,p.Pro3Ser,ENST00000392757,;LHPP,missense_variant,p.Pro3Ser,ENST00000368839,;LHPP,missense_variant,p.Pro3Ser,ENST00000368842,;	35	23	69	SUCCESS
FAM149B1	317662	.	GRCh37	10	74970149	74970149	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	12	145	0	ENST00000242505.6:c.851G>C	p.Ser284Thr	p.S284T	ENST00000242505	NM_173348.1	284	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS44435.1	851	MUTECT|MUSE	.	TGTGAGCTGTA	NONE	.	.	hmmpanther:PTHR31997:SF0,hmmpanther:PTHR31997	.	.	ENSP00000242505	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000242505	Transcript	.	.	ENSG00000138286	29162	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.054)	.	deleterious(0.01)	.	F149B_HUMAN	FAM149B1	HGNC	.	.	UPI00001617A8	SNV	FAM149B1,missense_variant,p.Ser79Thr,ENST00000445951,;FAM149B1,missense_variant,p.Ser225Thr,ENST00000372955,;FAM149B1,missense_variant,p.Ser284Thr,ENST00000242505,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,missense_variant,p.Ser42Thr,ENST00000475829,;	1025	145	185	SUCCESS
CARD16	114769	.	GRCh37	11	104912234	104912234	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs889939311	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	11	76	0	ENST00000375706.2:c.487C>T	p.Arg163Trp	p.R163W	ENST00000375706	NM_001017534.1	163	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31661.1	487	RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGCTCAA	NONE	.	.	hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34	.	.	ENSP00000364858	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000375706	Transcript	.	.	ENSG00000204397	33701	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	deleterious_low_confidence(0)	.	CAR16_HUMAN	CARD16	HGNC	E9PQW1_HUMAN	.	UPI00004C9CE7	SNV	CARD16,missense_variant,p.Arg163Trp,ENST00000375706,;CASP1,intron_variant,,ENST00000415981,;CASP1,intron_variant,,ENST00000598974,;CASP1,intron_variant,,ENST00000593315,;CASP1,intron_variant,,ENST00000594519,;CARD16,downstream_gene_variant,,ENST00000375704,;CARD16,downstream_gene_variant,,ENST00000525374,;CARD16,downstream_gene_variant,,ENST00000528513,;CARD16,downstream_gene_variant,,ENST00000527065,;	505	76	112	SUCCESS
MUC2	4583	.	GRCh37	11	1080902	1080902	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	70	0	ENST00000441003.2:c.1286T>A	p.Leu429Gln	p.L429Q	ENST00000441003	NM_002457.2	429	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	.	1286	MUTECT|MUSE|VARSCANS	.	TCTCCTGGGCG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	10/49	.	.	.	.	.	.	.	.	.	10/49	nonpreferredpair	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Leu429Gln,ENST00000441003,;MUC2,missense_variant,p.Leu429Gln,ENST00000359061,;	1313	70	80	SUCCESS
OR51S1	119692	.	GRCh37	11	4869689	4869689	+	synonymous_variant	Silent	SNP	G	G	T	rs774779619	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	11	90	0	ENST00000322101.2:c.750C>A	p.Ala250=	p.A250=	ENST00000322101	NM_001004758.1	250	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31362.1	750	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000322754	.	1/1	.	.	.	.	.	.	.	.	rs774779619	1/1	nonpreferredpair	ENST00000322101	Transcript	.	.	ENSG00000176922	15204	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O51S1_HUMAN	OR51S1	HGNC	.	.	UPI0000041C33	SNV	OR51S1,synonymous_variant,p.%3D,ENST00000322101,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	826	90	112	SUCCESS
CCDC88B	283234	.	GRCh37	11	64111617	64111617	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769104707	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	55	1	ENST00000356786.5:c.1604C>T	p.Pro535Leu	p.P535L	ENST00000356786	NM_032251.5	535	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS8072.2	1604	MUTECT|MUSE	.	TCCCCCGGCAT	NONE	byFrequency	.	hmmpanther:PTHR18947:SF29,hmmpanther:PTHR18947	.	.	ENSP00000349238	.	14/27	.	.	.	.	.	.	.	.	rs769104707,COSM689726	14/27	nonpreferredpair	ENST00000356786	Transcript	.	.	ENSG00000168071	26757	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.002)	.	tolerated_low_confidence(0.68)	0,1	CC88B_HUMAN	CCDC88B	HGNC	.	.	UPI00001FAAA6	SNV	CCDC88B,missense_variant,p.Pro535Leu,ENST00000356786,;CCDC88B,upstream_gene_variant,,ENST00000359902,;CCDC88B,upstream_gene_variant,,ENST00000301897,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494566,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000492980,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;	1648	56	58	SUCCESS
KSR2	283455	.	GRCh37	12	118198839	118198839	+	synonymous_variant	Silent	SNP	G	G	A	rs1025244189	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	6	65	0	ENST00000339824.5:c.963C>T	p.Arg321=	p.R321=	ENST00000339824		321	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	.	963	MUTECT|MUSE	.	TCCACGCGGTG	NONE	.	.	.	.	.	ENSP00000339952	.	4/20	.	.	.	.	.	.	.	.	.	4/20	nonpreferredpair	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,synonymous_variant,p.%3D,ENST00000425217,;KSR2,synonymous_variant,p.%3D,ENST00000339824,;	1691	65	90	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1949905	1949905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	30	0	ENST00000382722.5:c.2551G>A	p.Ala851Thr	p.A851T	ENST00000382722	NM_172364.4	851	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44785.1	2551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACCTGCAG	NONE	.	.	hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166	.	.	ENSP00000372169	.	26/38	.	.	.	.	.	.	.	.	.	26/38	nonpreferredpair	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0.01)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Ala712Thr,ENST00000585732,;CACNA2D4,missense_variant,p.Ala826Thr,ENST00000587995,;CACNA2D4,missense_variant,p.Ala851Thr,ENST00000586184,;CACNA2D4,missense_variant,p.Ala851Thr,ENST00000382722,;CACNA2D4,missense_variant,p.Ala787Thr,ENST00000588077,;CACNA2D4,missense_variant,p.Ala787Thr,ENST00000585708,;LRTM2,downstream_gene_variant,,ENST00000535041,;LRTM2,downstream_gene_variant,,ENST00000543818,;LRTM2,downstream_gene_variant,,ENST00000299194,;CACNA2D4,downstream_gene_variant,,ENST00000539048,;LRTM2,downstream_gene_variant,,ENST00000543730,;CACNA2D4,missense_variant,p.Ala132Thr,ENST00000537784,;CACNA2D4,splice_region_variant,,ENST00000280663,;CACNA2D4,splice_region_variant,,ENST00000444595,;	2914	30	20	SUCCESS
KRT73	319101	.	GRCh37	12	53007536	53007536	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778766158	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	60	0	ENST00000305748.3:c.920G>A	p.Arg307His	p.R307H	ENST00000305748	NM_175068.2	307	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8834.1	920	MUTECT|MUSE	.	GGGCACGGACC	NONE	byFrequency	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Pfam_domain:PF00038	.	.	ENSP00000307014	.	5/9	.	.	.	.	.	.	.	.	rs778766158	5/9	nonpreferredpair	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.243)	.	tolerated(0.06)	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,missense_variant,p.Arg52His,ENST00000552855,;KRT73,missense_variant,p.Arg307His,ENST00000305748,;RP11-641A6.2,non_coding_transcript_exon_variant,,ENST00000549180,;RP11-641A6.2,non_coding_transcript_exon_variant,,ENST00000552364,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	955	60	81	SUCCESS
MYO1A	4640	.	GRCh37	12	57442030	57442030	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778478106	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	66	0	ENST00000300119.3:c.78G>T	p.Lys26Asn	p.K26N	ENST00000300119	NM_005379.3	26	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS8929.1	78	MUTECT|MUSE	.	AGATTCTTGAG	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF291,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000393392	.	3/29	.	.	.	.	.	.	.	.	rs778478106,COSM192216	3/29	nonpreferredpair	ENST00000442789	Transcript	.	.	ENSG00000166866	7595	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.052)	.	tolerated(0.5)	0,1	MYO1A_HUMAN	MYO1A	HGNC	Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN	.	UPI000012FAC2	SNV	MYO1A,missense_variant,p.Lys26Asn,ENST00000300119,;MYO1A,missense_variant,p.Lys26Asn,ENST00000433964,;MYO1A,missense_variant,p.Lys26Asn,ENST00000442789,;MYO1A,intron_variant,,ENST00000492945,;MYO1A,upstream_gene_variant,,ENST00000544473,;MYO1A,non_coding_transcript_exon_variant,,ENST00000471791,;MYO1A,upstream_gene_variant,,ENST00000554234,;	366	66	73	SUCCESS
CLEC4E	26253	.	GRCh37	12	8693519	8693519	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	25	0	ENST00000299663.3:c.-126A>G		p.*42*	ENST00000299663	NM_014358.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8594.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTTGTCT	NONE	.	.	.	.	.	ENSP00000299663	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000299663	Transcript	.	.	ENSG00000166523	14555	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLC4E_HUMAN	CLEC4E	HGNC	.	.	UPI0000037798	SNV	CLEC4E,5_prime_UTR_variant,,ENST00000299663,;CLEC4E,upstream_gene_variant,,ENST00000545274,;CLEC4E,upstream_gene_variant,,ENST00000446457,;CLEC4E,upstream_gene_variant,,ENST00000537698,;CLEC4E,upstream_gene_variant,,ENST00000450725,;CLEC4E,upstream_gene_variant,,ENST00000446809,;	41	25	46	SUCCESS
SOX1	6656	.	GRCh37	13	112722436	112722441	+	inframe_deletion	In_Frame_Del	DEL	TGGGCG	TGGGCG	-	rs554658976	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	TGGGCG	TGGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	9	0	ENST00000330949.1:c.482_487del	p.Val161_Gly162del	p.V161_G162del	ENST00000330949	NM_005986.2	155	aTGGGCGtg/atg	0	-:0.05	-:0.1195	.	-:0.0692	.	-	MGV/M	protein_coding	YES	CCDS9523.1	464-469	INDELOCATOR|VARSCANI	.	TGGCCATGGGCGTGGGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF40,Pfam_domain:PF12336	-:0.0794	-:0.0399	ENSP00000330218	-:0.0895	1/1	.	.	.	.	.	.	.	.	rs554658976	1/1	common_in_exac,nonpreferredpair	ENST00000330949	Transcript	.	-:0.1072	ENSG00000182968	11189	18	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1646	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	deletion	SOX1,inframe_deletion,p.Val161_Gly162del,ENST00000330949,;	524-529	9	31	SUCCESS
SOHLH2	54937	.	GRCh37	13	36747876	36747876	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752308946	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	60	1	ENST00000379881.3:c.953G>T	p.Gly318Val	p.G318V	ENST00000379881	NM_017826.2	318	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS55896.1	1184	MUTECT|MUSE	.	AGCACCCATTC	NONE	.	.	hmmpanther:PTHR16223:SF16,hmmpanther:PTHR16223	.	.	ENSP00000451542	.	14/16	.	.	.	.	.	.	.	.	rs752308946	14/16	nonpreferredpair	ENST00000554962	Transcript	.	.	ENSG00000120669	26026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	SOLH2_HUMAN	SOHLH2	HGNC	.	.	UPI00017A803A	SNV	SOHLH2,missense_variant,p.Gly318Val,ENST00000379881,;CCDC169-SOHLH2,missense_variant,p.Gly395Val,ENST00000511166,;SOHLH2,missense_variant,p.Gly395Val,ENST00000554962,;	1486	61	57	SUCCESS
FREM2	341640	.	GRCh37	13	39264479	39264479	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	11	122	0	ENST00000280481.7:c.2998C>G	p.Pro1000Ala	p.P1000A	ENST00000280481	NM_207361.4	1000	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS31960.1	2998	MUTECT|MUSE	.	GCATTCCAGCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	nonpreferredpair	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.06)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Pro1000Ala,ENST00000280481,;	3214	122	136	SUCCESS
GPR137C	283554	.	GRCh37	14	53098899	53098899	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	112	0	ENST00000321662.6:c.739G>A	p.Val247Ile	p.V247I	ENST00000321662	NM_001099652.1	247	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS45106.1	739	MUTECT|MUSE	.	AGACTGTCGTC	NONE	.	.	hmmpanther:PTHR15146:SF1,hmmpanther:PTHR15146	.	.	ENSP00000315106	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000321662	Transcript	.	.	ENSG00000180998	25445	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	tolerated(0.54)	.	G137C_HUMAN	GPR137C	HGNC	B3KW22_HUMAN	.	UPI0000043F5A	SNV	GPR137C,missense_variant,p.Val179Ile,ENST00000555622,;GPR137C,missense_variant,p.Val247Ile,ENST00000321662,;GPR137C,missense_variant,p.Val217Ile,ENST00000542169,;GPR137C,non_coding_transcript_exon_variant,,ENST00000555369,;	739	112	137	SUCCESS
DMXL2	23312	.	GRCh37	15	51868294	51868294	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762014970	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	39	0	ENST00000251076.5:c.172A>G	p.Ile58Val	p.I58V	ENST00000251076	NM_015263.3	58	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53946.1	172	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGATGTTTC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	2/43	.	.	.	.	.	.	.	.	rs762014970	2/43	nonpreferredpair	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	tolerated(0.18)	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,missense_variant,p.Ile58Val,ENST00000449909,;DMXL2,missense_variant,p.Ile58Val,ENST00000543779,;DMXL2,missense_variant,p.Ile58Val,ENST00000251076,;DMXL2,non_coding_transcript_exon_variant,,ENST00000560421,;DMXL2,non_coding_transcript_exon_variant,,ENST00000558507,;	262	39	36	SUCCESS
MAPK6	5597	.	GRCh37	15	52342240	52342240	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	77	0	ENST00000261845.5:c.606T>G	p.Leu202=	p.L202=	ENST00000261845	NM_002748.3	202	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS10147.1	606	MUTECT|MUSE	.	CGTCTTTTACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF171,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01771	.	.	ENSP00000261845	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000261845	Transcript	.	.	ENSG00000069956	6879	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MK06_HUMAN	MAPK6	HGNC	.	.	UPI000012F177	SNV	MAPK6,synonymous_variant,p.%3D,ENST00000261845,;MAPK6,downstream_gene_variant,,ENST00000558100,;MAPK6,downstream_gene_variant,,ENST00000560774,;MAPK6,downstream_gene_variant,,ENST00000560254,;MAPK6,downstream_gene_variant,,ENST00000558841,;MAPK6,downstream_gene_variant,,ENST00000558063,;MAPK6,downstream_gene_variant,,ENST00000558891,;MAPK6,downstream_gene_variant,,ENST00000560802,;	1413	77	105	SUCCESS
POLG	5428	.	GRCh37	15	89866679	89866679	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751736420	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	70	0	ENST00000268124.5:c.2221G>T	p.Asp741Tyr	p.D741Y	ENST00000268124	NM_001126131.1	741	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10350.1	2221	MUTECT|MUSE	.	CACGTCGTTGT	NONE	byFrequency	.	Superfamily_domains:SSF56672,PIRSF_domain:PIRSF000797,Pfam_domain:PF00476,hmmpanther:PTHR10267:SF0,hmmpanther:PTHR10267	.	.	ENSP00000268124	.	13/23	.	.	.	.	.	.	.	.	rs751736420	13/23	nonpreferredpair	ENST00000268124	Transcript	1	.	ENSG00000140521	9179	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DPOG1_HUMAN	POLG	HGNC	E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN	.	UPI000000D9E8	SNV	POLG,missense_variant,p.Asp741Tyr,ENST00000268124,;POLG,missense_variant,p.Asp741Tyr,ENST00000442287,;POLG,intron_variant,,ENST00000526314,;POLG,3_prime_UTR_variant,,ENST00000526398,;POLG,non_coding_transcript_exon_variant,,ENST00000532584,;POLG,downstream_gene_variant,,ENST00000533857,;POLG,upstream_gene_variant,,ENST00000528881,;POLG,downstream_gene_variant,,ENST00000526573,;POLG,upstream_gene_variant,,ENST00000530292,;POLG,downstream_gene_variant,,ENST00000532363,;POLG,upstream_gene_variant,,ENST00000530715,;	2555	70	90	SUCCESS
CRAMP1L	0	.	GRCh37	16	1664843	1664843	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs189020189	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	9	0	ENST00000293925.5:c.203C>T	p.Ala68Val	p.A68V	ENST00000293925	NM_020825.3	68	gCg/gTg	0	.	T:0.0023	.	T:0.0202	.	T	A/V	protein_coding	YES	CCDS10440.2	203	MUTECT|MUSE|VARSCANS	.	GCAGGCGCCGT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21677	T:0	.	ENSP00000380559	T:0.0487	2/21	.	.	.	.	.	.	.	.	rs189020189,COSM3749336,COSM3749337	2/21	common_in_exac,nonpreferredpair	ENST00000397412	Transcript	.	T:0.0170	ENSG00000007545	14122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	benign(0.093)	T:0.0194	tolerated_low_confidence(0.07)	0,1,1	CRML_HUMAN	CRAMP1L	HGNC	B2RNX8_HUMAN	.	UPI000066D946	SNV	CRAMP1L,missense_variant,p.Ala68Val,ENST00000436138,;CRAMP1L,missense_variant,p.Ala68Val,ENST00000293925,;CRAMP1L,missense_variant,p.Ala68Val,ENST00000397412,;IFT140,upstream_gene_variant,,ENST00000426508,;IFT140,upstream_gene_variant,,ENST00000569646,;IFT140,upstream_gene_variant,,ENST00000569812,;LA16c-395F10.2,downstream_gene_variant,,ENST00000563162,;IFT140,upstream_gene_variant,,ENST00000439987,;IFT140,upstream_gene_variant,,ENST00000397417,;IFT140,upstream_gene_variant,,ENST00000566052,;	302	9	24	SUCCESS
NF1	4763	.	GRCh37	17	29592318	29592318	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	17	196	0	ENST00000358273.4:c.4796C>A	p.Ser1599Tyr	p.S1599Y	ENST00000358273	NM_001042492.2	1599	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS42292.1	4796	MUTECT|MUSE	.	GACTTCCAAAG	NONE	.	.	SMART_domains:SM00516,Pfam_domain:PF13716,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194,PROSITE_profiles:PS50191	.	.	ENSP00000351015	.	36/58	.	.	.	.	.	.	.	.	CM077303,COSM3515865,COSM3515864	36/58	nonpreferredpair	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Ser1244Tyr,ENST00000456735,;NF1,missense_variant,p.Ser1599Tyr,ENST00000358273,;NF1,missense_variant,p.Ser1578Tyr,ENST00000356175,;NF1,missense_variant,p.Ser1612Tyr,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000466819,;NF1,downstream_gene_variant,,ENST00000479614,;	5179	196	276	SUCCESS
NF1	4763	.	GRCh37	17	29657493	29657494	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TT	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	84	0	ENST00000358273.4:c.5790_5791insTT	p.Ile1931LeufsTer12	p.I1931Lfs*12	ENST00000358273	NM_001042492.2	1930	tgt/tgTTt	0	.	.	.	.	.	TT	C/CX	protein_coding	YES	CCDS42292.1	5789-5790	INDELOCATOR|VARSCANI	.	AGAGTGTATTT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	39/58	.	.	.	.	.	.	.	.	.	39/58	nonpreferredpair	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	insertion	NF1,frameshift_variant,p.Ile1576LeufsTer12,ENST00000456735,;NF1,frameshift_variant,p.Ile1931LeufsTer12,ENST00000358273,;NF1,frameshift_variant,p.Ile1910LeufsTer12,ENST00000356175,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,frameshift_variant,p.Ile51LeufsTer?,ENST00000479536,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	6172-6173	84	100	SUCCESS
ACACA	31	.	GRCh37	17	35580444	35580444	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	67	0	ENST00000353139.5:c.3553G>A	p.Ala1185Thr	p.A1185T	ENST00000353139	NM_198834.1	1185	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42302.1	3553	MUTECT|MUSE	.	AGCTGCCATCC	NONE	.	.	hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF08326	.	.	ENSP00000344789	.	28/56	.	.	.	.	.	.	.	.	COSM3969992,COSM3969991	28/56	nonpreferredpair	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.423)	.	deleterious(0)	1,1	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,missense_variant,p.Ala1090Thr,ENST00000360679,;ACACA,missense_variant,p.Ala1185Thr,ENST00000353139,;ACACA,missense_variant,p.Ala1148Thr,ENST00000394406,;ACACA,missense_variant,p.Ala1070Thr,ENST00000335166,;ACACA,non_coding_transcript_exon_variant,,ENST00000587720,;ACACA,upstream_gene_variant,,ENST00000587598,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	4035	67	77	SUCCESS
NAGLU	4669	.	GRCh37	17	40689487	40689487	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141018386	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	59	0	ENST00000225927.2:c.455G>A	p.Arg152Gln	p.R152Q	ENST00000225927	NM_000263.3	152	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11427.1	455	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGAGAGA	NONE	byCluster	.	hmmpanther:PTHR12872,Pfam_domain:PF05089,Superfamily_domains:SSF51445	.	A:0.0001	ENSP00000225927	.	2/6	.	.	.	.	.	.	.	.	rs141018386	2/6	nonpreferredpair	ENST00000225927	Transcript	.	.	ENSG00000108784	7632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.41)	.	ANAG_HUMAN	NAGLU	HGNC	.	.	UPI000013C885	SNV	NAGLU,missense_variant,p.Arg48Gln,ENST00000590358,;NAGLU,missense_variant,p.Arg152Gln,ENST00000225927,;NAGLU,intron_variant,,ENST00000591587,;NAGLU,intron_variant,,ENST00000586516,;NAGLU,upstream_gene_variant,,ENST00000592454,;RP11-400F19.8,intron_variant,,ENST00000585572,;PTP4A2P1,downstream_gene_variant,,ENST00000590314,;	556	59	73	SUCCESS
PRKCA	5578	.	GRCh37	17	64800042	64800042	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141376042	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	70	0	ENST00000413366.3:c.1906G>A	p.Val636Ile	p.V636I	ENST00000413366	NM_002737.2	636	Gtc/Atc	0	A:0.0082	A:0.0076	.	A:0.0014	.	A	V/I	protein_coding	YES	CCDS11664.1	1906	MUTECT|MUSE|VARSCANS	.	AGCCCGTCTTA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51285,hmmpanther:PTHR24357:SF65,hmmpanther:PTHR24357,Pfam_domain:PF00433,PIRSF_domain:PIRSF000550,SMART_domains:SM00133	A:0	A:0.0001	ENSP00000408695	A:0	17/17	.	.	.	.	.	.	.	.	rs141376042	17/17	common_in_exac,nonpreferredpair	ENST00000413366	Transcript	.	A:0.0022	ENSG00000154229	9393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	A:0	tolerated(0.18)	.	KPCA_HUMAN	PRKCA	HGNC	L7RSM7_HUMAN	.	UPI000013DD98	SNV	PRKCA,missense_variant,p.Val636Ile,ENST00000413366,;	1932	70	59	SUCCESS
MOCOS	55034	.	GRCh37	18	33767531	33767531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	11	0	ENST00000261326.5:c.29G>T	p.Arg10Leu	p.R10L	ENST00000261326	NM_017947.2	10	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS11919.1	29	RADIA|MUSE	.	AGGGCGGGAGC	NONE	.	.	.	.	.	ENSP00000261326	.	1/15	.	.	.	.	.	.	.	.	.	1/15	nonpreferredpair	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.28)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Arg10Leu,ENST00000261326,;RP11-49I11.1,upstream_gene_variant,,ENST00000568654,;	50	11	33	SUCCESS
PRKACA	5566	.	GRCh37	19	14208612	14208612	+	synonymous_variant	Silent	SNP	C	C	T	rs763611702	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	77	0	ENST00000308677.4:c.510G>A	p.Pro170=	p.P170=	ENST00000308677	NM_002730.3	170	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12304.1	510	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCGGCTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF55,hmmpanther:PTHR24353,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000309591	.	6/10	.	.	.	.	.	.	.	.	rs763611702	6/10	nonpreferredpair	ENST00000308677	Transcript	1	.	ENSG00000072062	9380	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAPCA_HUMAN	PRKACA	HGNC	K7EMV1_HUMAN	.	UPI0000001C8D	SNV	PRKACA,synonymous_variant,p.%3D,ENST00000593092,;PRKACA,synonymous_variant,p.%3D,ENST00000308677,;PRKACA,synonymous_variant,p.%3D,ENST00000587372,;PRKACA,synonymous_variant,p.%3D,ENST00000589994,;PRKACA,intron_variant,,ENST00000590853,;PRKACA,non_coding_transcript_exon_variant,,ENST00000350356,;PRKACA,non_coding_transcript_exon_variant,,ENST00000588209,;PRKACA,non_coding_transcript_exon_variant,,ENST00000536649,;PRKACA,non_coding_transcript_exon_variant,,ENST00000587533,;	707	77	89	SUCCESS
ZNF430	80264	.	GRCh37	19	21216304	21216304	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	17	117	0	ENST00000261560.5:c.139G>T	p.Glu47Ter	p.E47*	ENST00000261560	NM_025189.3	47	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS32978.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGAGGAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF41,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000261560	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,stop_gained,p.Glu47Ter,ENST00000595401,;ZNF430,stop_gained,p.Glu47Ter,ENST00000594110,;ZNF430,stop_gained,p.Glu47Ter,ENST00000599548,;ZNF430,stop_gained,p.Glu47Ter,ENST00000261560,;ZNF430,non_coding_transcript_exon_variant,,ENST00000595833,;	320	117	153	SUCCESS
SBK2	646643	.	GRCh37	19	56042689	56042689	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	28	0	ENST00000344158.3:c.277C>A	p.Leu93Ile	p.L93I	ENST00000344158		93	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS42631.1	277	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGCTGCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF293,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000389015	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000413299	Transcript	.	.	ENSG00000187550	34416	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	SBK2_HUMAN	SBK2	HGNC	.	.	UPI00015DFA43	SNV	SBK2,missense_variant,p.Leu93Ile,ENST00000413299,;SBK2,missense_variant,p.Leu93Ile,ENST00000344158,;	315	28	21	SUCCESS
PNPLA6	10908	.	GRCh37	19	7615936	7615936	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	46	0	ENST00000414982.3:c.2154G>A	p.Thr718=	p.T718=	ENST00000414982	NM_001166111.1	718	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54206.1	2154	RADIA|MUTECT|MUSE|VARSCANS	.	GACACGGAGCT	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,Pfam_domain:PF00027,hmmpanther:PTHR14226:SF26,hmmpanther:PTHR14226,PROSITE_profiles:PS50042	.	.	ENSP00000407509	.	19/34	.	.	.	.	.	.	.	.	.	19/34	nonpreferredpair	ENST00000414982	Transcript	1	.	ENSG00000032444	16268	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPL6_HUMAN	PNPLA6	HGNC	.	.	UPI0001AE63FF	SNV	PNPLA6,synonymous_variant,p.%3D,ENST00000450331,;PNPLA6,synonymous_variant,p.%3D,ENST00000600737,;PNPLA6,synonymous_variant,p.%3D,ENST00000545201,;PNPLA6,synonymous_variant,p.%3D,ENST00000221249,;PNPLA6,synonymous_variant,p.%3D,ENST00000414982,;PNPLA6,downstream_gene_variant,,ENST00000594864,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000599951,;PNPLA6,downstream_gene_variant,,ENST00000595889,;PNPLA6,downstream_gene_variant,,ENST00000599311,;PNPLA6,downstream_gene_variant,,ENST00000595176,;	2349	46	50	SUCCESS
CD46	4179	.	GRCh37	1	207934716	207934716	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	16	81	0	ENST00000358170.2:c.601del	p.Ser201HisfsTer32	p.S201Hfs*32	ENST00000358170	NM_002389.4	200	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS1482.1	598	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCCATTTTCA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,PIRSF_domain:PIRSF037971,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,PROSITE_profiles:PS50923	.	.	ENSP00000313875	.	5/13	.	.	.	.	.	.	.	.	.	5/13	nonpreferredpair	ENST00000322875	Transcript	.	.	ENSG00000117335	6953	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCP_HUMAN	CD46	HGNC	Q06C42_HUMAN	.	UPI000015FF6E	deletion	CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000360212,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000322918,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000358170,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000354848,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000367042,;CD46,frameshift_variant,p.Ser138HisfsTer32,ENST00000367047,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000361067,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000441839,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000480003,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000357714,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000367041,;CD46,frameshift_variant,p.Ser201HisfsTer32,ENST00000322875,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,downstream_gene_variant,,ENST00000493796,;CD46,non_coding_transcript_exon_variant,,ENST00000464082,;RP11-454L1.2,upstream_gene_variant,,ENST00000435216,;	754	81	134	SUCCESS
ZBTB40	9923	.	GRCh37	1	22838185	22838185	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	15	177	0	ENST00000375647.4:c.2019A>C	p.Glu673Asp	p.E673D	ENST00000375647	NM_014870.3	673	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS224.1	2019	MUTECT|MUSE	.	AAGGAAGATGG	NONE	.	.	hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394	.	.	ENSP00000384527	.	12/19	.	.	.	.	.	.	.	.	.	12/19	nonpreferredpair	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.19)	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,missense_variant,p.Glu673Asp,ENST00000404138,;ZBTB40,missense_variant,p.Glu673Asp,ENST00000375647,;ZBTB40,missense_variant,p.Glu561Asp,ENST00000374651,;	2530	177	192	SUCCESS
PCNXL2	0	.	GRCh37	1	233394746	233394746	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	67	0	ENST00000258229.9:c.862G>C	p.Val288Leu	p.V288L	ENST00000258229	NM_014801.3	288	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS44335.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGACAGGTT	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	5/34	.	.	.	.	.	.	.	.	.	5/34	nonpreferredpair	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.86)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Val288Leu,ENST00000258229,;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,upstream_gene_variant,,ENST00000475463,;	1097	67	84	SUCCESS
OR2W5	0	.	GRCh37	1	247655366	247655366	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	65	0	ENST00000530852.2:n.997G>T		p.*333*	ENST00000530852				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	GCTGGGGAGCC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	COSM230897	1/1	nonpreferredpair	ENST00000530852	Transcript	.	.	ENSG00000203664	15424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	OR2W5	HGNC	.	.	.	SNV	OR2W5,non_coding_transcript_exon_variant,,ENST00000522351,;OR2W5,non_coding_transcript_exon_variant,,ENST00000530852,;OR2W5,non_coding_transcript_exon_variant,,ENST00000366492,;	997	65	75	SUCCESS
EPHA10	284656	.	GRCh37	1	38227457	38227457	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	67	0	ENST00000373048.4:c.470C>T	p.Ala157Val	p.A157V	ENST00000373048	NM_001099439.1	157	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41305.1	470	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCGCCGCG	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000362139	.	3/17	.	.	.	.	.	.	.	.	COSM393973	3/17	nonpreferredpair	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,missense_variant,p.Ala157Val,ENST00000319637,;EPHA10,missense_variant,p.Ala157Val,ENST00000427468,;EPHA10,missense_variant,p.Ala157Val,ENST00000373048,;	470	67	59	SUCCESS
GUCA2A	2980	.	GRCh37	1	42629210	42629210	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	92	0	ENST00000357001.2:c.147G>T	p.Arg49Ser	p.R49S	ENST00000357001	NM_033553.2	49	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS465.1	147	MUTECT|MUSE	.	CCAACCCTGGG	NONE	.	.	hmmpanther:PTHR11318,hmmpanther:PTHR11318:SF3,Pfam_domain:PF02058,Gene3D:1o8rA00,PIRSF_domain:PIRSF001849,Superfamily_domains:0041741	.	.	ENSP00000349493	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000357001	Transcript	.	.	ENSG00000197273	4682	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.079)	.	tolerated(0.35)	.	GUC2A_HUMAN	GUCA2A	HGNC	.	.	UPI000013CC23	SNV	GUCA2A,missense_variant,p.Arg49Ser,ENST00000357001,;	153	92	87	SUCCESS
DMAP1	55929	.	GRCh37	1	44684852	44684852	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770456146	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	57	0	ENST00000315913.5:c.845G>A	p.Arg282Gln	p.R282Q	ENST00000315913		282	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS509.1	845	MUTECT|MUSE	.	GCAGCGGCGCA	NONE	.	.	hmmpanther:PTHR12855:SF10,hmmpanther:PTHR12855,Pfam_domain:PF05499	.	.	ENSP00000361363	.	6/10	.	.	.	.	.	.	.	.	rs770456146	6/10	nonpreferredpair	ENST00000372289	Transcript	.	.	ENSG00000178028	18291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.459)	.	tolerated(0.18)	.	DMAP1_HUMAN	DMAP1	HGNC	Q5TG40_HUMAN,Q5TG38_HUMAN,B4DQG8_HUMAN	.	UPI00001294C6	SNV	DMAP1,missense_variant,p.Arg282Gln,ENST00000315913,;DMAP1,missense_variant,p.Arg282Gln,ENST00000446292,;DMAP1,missense_variant,p.Arg282Gln,ENST00000361745,;DMAP1,missense_variant,p.Arg282Gln,ENST00000372289,;ERI3,downstream_gene_variant,,ENST00000372259,;DMAP1,downstream_gene_variant,,ENST00000437511,;ERI3,downstream_gene_variant,,ENST00000372257,;DMAP1,downstream_gene_variant,,ENST00000372290,;DMAP1,downstream_gene_variant,,ENST00000436069,;ERI3,downstream_gene_variant,,ENST00000537474,;DMAP1,downstream_gene_variant,,ENST00000440641,;ERI3,downstream_gene_variant,,ENST00000456170,;DMAP1,non_coding_transcript_exon_variant,,ENST00000488433,;DMAP1,non_coding_transcript_exon_variant,,ENST00000483741,;ERI3,downstream_gene_variant,,ENST00000479101,;DMAP1,downstream_gene_variant,,ENST00000475794,;DMAP1,downstream_gene_variant,,ENST00000471829,;ERI3,downstream_gene_variant,,ENST00000489710,;DMAP1,downstream_gene_variant,,ENST00000487922,;DMAP1,upstream_gene_variant,,ENST00000494092,;ERI3,downstream_gene_variant,,ENST00000462341,;DMAP1,downstream_gene_variant,,ENST00000463950,;	1108	57	71	SUCCESS
C20orf173	140873	.	GRCh37	20	34116559	34116559	+	synonymous_variant	Silent	SNP	G	G	A	rs547262885	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	45	0	ENST00000246199.2:c.300C>T	p.Asn100=	p.N100=	ENST00000246199		100	aaC/aaT	0	.	A:0	.	A:0	.	A	N	protein_coding	YES	CCDS46594.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCGTTGCC	NONE	by1000G	.	hmmpanther:PTHR13713:SF43,hmmpanther:PTHR13713	A:0	.	ENSP00000403566	A:0.001	3/6	.	.	.	.	.	.	.	.	rs547262885	3/6	nonpreferredpair	ENST00000444723	Transcript	.	A:0.0002	ENSG00000125975	16166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CT173_HUMAN	C20orf173	HGNC	Q4VXS0_HUMAN,Q4VXR9_HUMAN	.	UPI0001948489	SNV	C20orf173,synonymous_variant,p.%3D,ENST00000444723,;C20orf173,synonymous_variant,p.%3D,ENST00000374345,;C20orf173,synonymous_variant,p.%3D,ENST00000246199,;C20orf173,downstream_gene_variant,,ENST00000424444,;RP3-477O4.5,upstream_gene_variant,,ENST00000422009,;RP3-477O4.5,non_coding_transcript_exon_variant,,ENST00000419294,;	604	45	46	SUCCESS
AURKA	6790	.	GRCh37	20	54958068	54958068	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	70	0	ENST00000312783.6:c.539G>A	p.Arg180Lys	p.R180K	ENST00000312783	NM_198436.1	180	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS13451.1	539	MUTECT|MUSE	.	CTTCTCTTCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24350,hmmpanther:PTHR24350:SF5,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000379245	.	7/11	.	.	.	.	.	.	.	.	.	7/11	nonpreferredpair	ENST00000395909	Transcript	.	.	ENSG00000087586	11393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	AURKA_HUMAN	AURKA	HGNC	Q5QPD4_HUMAN,Q5QPD2_HUMAN,Q5QPD1_HUMAN,A3KFJ2_HUMAN,A3KFJ1_HUMAN	.	UPI000013C70F	SNV	AURKA,missense_variant,p.Arg180Lys,ENST00000395909,;AURKA,missense_variant,p.Arg180Lys,ENST00000395913,;AURKA,missense_variant,p.Arg180Lys,ENST00000420474,;AURKA,missense_variant,p.Arg180Lys,ENST00000347343,;AURKA,missense_variant,p.Arg180Lys,ENST00000371356,;AURKA,missense_variant,p.Arg180Lys,ENST00000395915,;AURKA,missense_variant,p.Arg180Lys,ENST00000441357,;AURKA,missense_variant,p.Arg180Lys,ENST00000395907,;AURKA,missense_variant,p.Arg180Lys,ENST00000395911,;AURKA,missense_variant,p.Arg180Lys,ENST00000395914,;AURKA,missense_variant,p.Arg180Lys,ENST00000312783,;AURKA,downstream_gene_variant,,ENST00000456249,;AURKA,downstream_gene_variant,,ENST00000422322,;AURKA,downstream_gene_variant,,ENST00000451915,;	1105	70	86	SUCCESS
SCAF4	57466	.	GRCh37	21	33077755	33077755	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	17	187	0	ENST00000286835.7:c.140T>A	p.Val47Glu	p.V47E	ENST00000286835	NM_020706.2	47	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS33537.1	140	MUTECT|MUSE	.	TTTCTACTATT	NONE	.	.	Superfamily_domains:SSF48464,SMART_domains:SM00582,Gene3D:1.25.40.90,hmmpanther:PTHR14124,hmmpanther:PTHR14124:SF2,PROSITE_profiles:PS51391	.	.	ENSP00000286835	.	3/20	.	.	.	.	.	.	.	.	.	3/20	nonpreferredpair	ENST00000286835	Transcript	.	.	ENSG00000156304	19304	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	SFR15_HUMAN	SCAF4	HGNC	Q0P607_HUMAN	.	UPI0000206D66	SNV	SCAF4,missense_variant,p.Val47Glu,ENST00000399804,;SCAF4,missense_variant,p.Val47Glu,ENST00000286835,;SCAF4,intron_variant,,ENST00000434667,;SCAF4,non_coding_transcript_exon_variant,,ENST00000485790,;SCAF4,upstream_gene_variant,,ENST00000467731,;HMGN1P2,upstream_gene_variant,,ENST00000445197,;	523	187	257	SUCCESS
AP000322.53	0	.	GRCh37	21	35791666	35791666	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	52	0	ENST00000450895.1:c.270T>C	p.Ser90=	p.S90=	ENST00000450895		90	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	.	270	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCAGAGGT	NONE	.	.	.	.	.	ENSP00000397039	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000450895	Transcript	.	.	ENSG00000243627	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	YU007_HUMAN	AP000322.53	Clone_based_vega_gene	.	.	UPI00001D833E	SNV	AP000322.53,synonymous_variant,p.%3D,ENST00000450895,;	397	52	42	SUCCESS
MICAL3	57553	.	GRCh37	22	18301464	18301464	+	synonymous_variant	Silent	SNP	G	G	A	rs986448287	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	39	0	ENST00000441493.2:c.3963C>T	p.Ser1321=	p.S1321=	ENST00000441493	NM_015241.2	1321	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46659.1	3963	MUTECT|MUSE	.	AGGTCGCTCCG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	26/32	.	.	.	.	.	.	.	.	.	26/32	nonpreferredpair	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;	4316	39	41	SUCCESS
APOL4	80832	.	GRCh37	22	36587462	36587462	+	synonymous_variant	Silent	SNP	G	G	A	rs1438688978	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	64	0	ENST00000352371.1:c.714C>T	p.Ala238=	p.A238=	ENST00000352371		238	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	.	714	MUTECT|MUSE	.	TTTGTGGCTTC	NONE	.	.	hmmpanther:PTHR14096:SF25,hmmpanther:PTHR14096,Pfam_domain:PF05461	.	.	ENSP00000338260	.	6/6	.	.	.	.	.	.	.	.	COSM580105	6/6	nonpreferredpair	ENST00000352371	Transcript	.	.	ENSG00000100336	14867	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	APOL4	HGNC	J3KNR9_HUMAN	.	UPI000013C6CD	SNV	APOL4,synonymous_variant,p.%3D,ENST00000332987,;APOL4,synonymous_variant,p.%3D,ENST00000352371,;APOL4,3_prime_UTR_variant,,ENST00000404685,;APOL4,3_prime_UTR_variant,,ENST00000405511,;APOL4,3_prime_UTR_variant,,ENST00000429038,;APOL4,downstream_gene_variant,,ENST00000449084,;APOL4,downstream_gene_variant,,ENST00000419360,;APOL4,downstream_gene_variant,,ENST00000457630,;APOL4,non_coding_transcript_exon_variant,,ENST00000479929,;APOL4,non_coding_transcript_exon_variant,,ENST00000524531,;APOL4,downstream_gene_variant,,ENST00000493203,;	939	64	81	SUCCESS
NPTXR	23467	.	GRCh37	22	39222683	39222683	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	79	0	ENST00000333039.2:c.920C>A	p.Ala307Asp	p.A307D	ENST00000333039	NM_014293.3	307	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33647.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGGCGTAC	NONE	.	.	hmmpanther:PTHR19277:SF94,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000327545	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000333039	Transcript	.	.	ENSG00000221890	7954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	NPTXR_HUMAN	NPTXR	HGNC	.	.	UPI00001B0258	SNV	NPTXR,missense_variant,p.Ala307Asp,ENST00000333039,;	1044	79	80	SUCCESS
SYNGR1	9145	.	GRCh37	22	39746105	39746105	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	22	0	ENST00000328933.5:c.90C>A	p.Val30=	p.V30=	ENST00000328933	NM_004711.4	30	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13989.1	90	MUTECT|MUSE|VARSCANS	.	CGCGTCGTGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR10838,hmmpanther:PTHR10838:SF7,Pfam_domain:PF01284,PIRSF_domain:PIRSF011282	.	.	ENSP00000332287	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000328933	Transcript	.	.	ENSG00000100321	11498	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNG1_HUMAN	SYNGR1	HGNC	.	.	UPI000013C6CB	SNV	SYNGR1,synonymous_variant,p.%3D,ENST00000328933,;SYNGR1,synonymous_variant,p.%3D,ENST00000318801,;SYNGR1,synonymous_variant,p.%3D,ENST00000406293,;SYNGR1,synonymous_variant,p.%3D,ENST00000216155,;SYNGR1,synonymous_variant,p.%3D,ENST00000415332,;SYNGR1,non_coding_transcript_exon_variant,,ENST00000489206,;	105	22	51	SUCCESS
CXCR4	7852	.	GRCh37	2	136872511	136872511	+	synonymous_variant	Silent	SNP	G	G	A	rs1284991536	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	20	147	0	ENST00000241393.3:c.987C>T	p.Leu329=	p.L329=	ENST00000241393	NM_003467.2	329	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33295.1	999	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGAGGAT	NONE	.	.	hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF7,Prints_domain:PR00645	.	.	ENSP00000386884	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000409817	Transcript	.	.	ENSG00000121966	2561	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CXCR4_HUMAN	CXCR4	HGNC	Q5MIL4_HUMAN	.	UPI000002A5E3	SNV	CXCR4,synonymous_variant,p.%3D,ENST00000241393,;CXCR4,synonymous_variant,p.%3D,ENST00000409817,;CXCR4,non_coding_transcript_exon_variant,,ENST00000466288,;	1303	147	193	SUCCESS
BAZ2B	29994	.	GRCh37	2	160310259	160310259	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs746086944	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	9	101	0	ENST00000392783.2:c.199A>C	p.Ser67Arg	p.S67R	ENST00000392783	NM_013450.2	67	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS2209.2	199	MUTECT|MUSE	.	GGCACTCGACA	NONE	.	.	.	.	.	ENSP00000376534	.	4/37	.	.	.	.	.	.	.	.	rs746086944	4/37	nonpreferredpair	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.307)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Ser67Arg,ENST00000355831,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000392782,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000437839,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000343439,;BAZ2B,missense_variant,p.Ser67Arg,ENST00000392783,;BAZ2B,intron_variant,,ENST00000541068,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000482503,;BAZ2B,downstream_gene_variant,,ENST00000483316,;BAZ2B,intron_variant,,ENST00000467184,;	695	101	109	SUCCESS
SCN3A	6328	.	GRCh37	2	165947139	165947139	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	20	200	0	ENST00000360093.3:c.5524G>C	p.Val1842Leu	p.V1842L	ENST00000360093	NM_001081677.1	1842	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS33312.1	5524	MUTECT|MUSE|VARSCANS	.	ACTGACCATGG	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037	.	.	ENSP00000283254	.	28/28	.	.	.	.	.	.	.	.	.	28/28	nonpreferredpair	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Val1842Leu,ENST00000360093,;SCN3A,missense_variant,p.Val1842Leu,ENST00000283254,;SCN3A,missense_variant,p.Val325Leu,ENST00000540861,;SCN3A,missense_variant,p.Val1793Leu,ENST00000409101,;AC013463.2,intron_variant,,ENST00000431341,;SCN3A,downstream_gene_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	5992	200	250	SUCCESS
TTN	7273	.	GRCh37	2	179584040	179584040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	108	0	ENST00000591111.1:c.23126T>C	p.Val7709Ala	p.V7709A	ENST00000591111		7709	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS59435.1	24077	MUTECT|MUSE	.	CACTAACAATC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	83/363	.	.	.	.	.	.	.	.	.	83/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val6782Ala,ENST00000342992,;TTN,missense_variant,p.Val7709Ala,ENST00000591111,;TTN,missense_variant,p.Val8026Ala,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	24302	108	104	SUCCESS
SESTD1	91404	.	GRCh37	2	179997118	179997118	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	68	0	ENST00000428443.3:c.885A>G	p.Gln295=	p.Q295=	ENST00000428443	NM_178123.4	295	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS33338.1	885	MUTECT|MUSE	.	CTTAGTTGTTC	NONE	.	.	Gene3D:1.20.58.60,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19	.	.	ENSP00000415332	.	10/18	.	.	.	.	.	.	.	.	.	10/18	nonpreferredpair	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	SNV	SESTD1,synonymous_variant,p.%3D,ENST00000428443,;SESTD1,synonymous_variant,p.%3D,ENST00000426988,;SESTD1,non_coding_transcript_exon_variant,,ENST00000489901,;SESTD1,intron_variant,,ENST00000335289,;	1202	68	88	SUCCESS
CD8B	926	.	GRCh37	2	87073896	87073896	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	400	33	405	0	ENST00000390655.6:c.494G>A	p.Gly165Asp	p.G165D	ENST00000390655	NM_004931.4	165	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1995.1	494	MUTECT|MUSE	.	GTGGGCCTGGA	NONE	.	.	hmmpanther:PTHR11292	.	.	ENSP00000331172	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000331469	Transcript	.	.	ENSG00000172116	1707	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.664)	.	deleterious(0.03)	.	CD8B_HUMAN	CD8B	HGNC	Q8TD28_HUMAN,B4E0F8_HUMAN	.	UPI0000160A12	SNV	CD8B,missense_variant,p.Gly165Asp,ENST00000390655,;CD8B,missense_variant,p.Gly165Asp,ENST00000393759,;CD8B,missense_variant,p.Gly165Asp,ENST00000331469,;CD8B,intron_variant,,ENST00000349455,;CD8B,intron_variant,,ENST00000431506,;CD8B,intron_variant,,ENST00000393761,;	544	405	433	SUCCESS
SLC6A11	6538	.	GRCh37	3	10916662	10916662	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	41	0	ENST00000254488.2:c.773C>T	p.Ala258Val	p.A258V	ENST00000254488	NM_014229.1	258	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2602.1	773	MUTECT|MUSE	.	GACTGCGACAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000254488	.	6/14	.	.	.	.	.	.	.	.	.	6/14	nonpreferredpair	ENST00000254488	Transcript	.	.	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Ala258Val,ENST00000254488,;	839	41	53	SUCCESS
HHATL	57467	.	GRCh37	3	42738590	42738590	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202043526	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	103	0	ENST00000310417.5:c.913G>A	p.Val305Ile	p.V305I	ENST00000310417		305	Gtc/Atc	0	.	T:0.0008	.	T:0	.	T	V/I	protein_coding	YES	CCDS2704.1	913	MUTECT|MUSE	.	GAGGACGGCCG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13285:SF19,hmmpanther:PTHR13285,Pfam_domain:PF03062	T:0	.	ENSP00000405423	T:0	8/12	.	.	.	.	.	.	.	.	rs202043526	8/12	nonpreferredpair	ENST00000441594	Transcript	.	T:0.0002	ENSG00000010282	13242	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.396)	T:0	deleterious(0.02)	.	HHATL_HUMAN	HHATL	HGNC	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN	.	UPI000012DC51	SNV	HHATL,missense_variant,p.Val305Ile,ENST00000310417,;HHATL,missense_variant,p.Val240Ile,ENST00000457462,;HHATL,missense_variant,p.Val305Ile,ENST00000441594,;HHATL,missense_variant,p.Val2Ile,ENST00000426666,;HHATL,downstream_gene_variant,,ENST00000417472,;KLHL40,downstream_gene_variant,,ENST00000287777,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000416756,;HHATL,downstream_gene_variant,,ENST00000442469,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,downstream_gene_variant,,ENST00000497000,;HHATL,upstream_gene_variant,,ENST00000480939,;HHATL,upstream_gene_variant,,ENST00000466007,;HHATL,upstream_gene_variant,,ENST00000490003,;	1175	103	110	SUCCESS
DNAH12	201625	.	GRCh37	3	57488148	57488148	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	11	126	0	ENST00000351747.2:c.1145C>A	p.Thr382Lys	p.T382K	ENST00000351747	NM_178504.4	382	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS33771.1	1145	MUTECT|MUSE	.	GTTCTGTGTCA	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676	.	.	ENSP00000312554	.	10/12	.	.	.	.	.	.	.	.	.	10/12	nonpreferredpair	ENST00000311202	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.187)	.	deleterious(0)	.	DYH12_HUMAN	DNAH12	HGNC	.	.	UPI000036716B	SNV	DNAH12,missense_variant,p.Thr382Lys,ENST00000351747,;DNAH12,missense_variant,p.Thr382Lys,ENST00000389536,;DNAH12,missense_variant,p.Thr382Lys,ENST00000311202,;DNAH12,missense_variant,p.Thr382Lys,ENST00000495027,;	1323	126	143	SUCCESS
TKTL2	84076	.	GRCh37	4	164393857	164393857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	8	106	0	ENST00000280605.3:c.1030G>T	p.Gly344Cys	p.G344C	ENST00000280605	NM_032136.4	344	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS3805.1	1030	MUTECT|MUSE	.	GTCACCACTCA	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF02779,Gene3D:3.40.50.970,SMART_domains:SM00861,Superfamily_domains:SSF52518	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,missense_variant,p.Gly344Cys,ENST00000280605,;	1191	106	116	SUCCESS
CDKN2AIP	55602	.	GRCh37	4	184366140	184366140	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	13	100	0	ENST00000504169.1:c.190G>T	p.Glu64Ter	p.E64*	ENST00000504169	NM_017632.2	64	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34110.1	190	RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGAGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16148,hmmpanther:PTHR16148:SF5,Pfam_domain:PF11952	.	.	ENSP00000427108	.	1/3	.	.	.	.	.	.	.	.	COSM3940820	1/3	nonpreferredpair	ENST00000504169	Transcript	.	.	ENSG00000168564	24325	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CARF_HUMAN	CDKN2AIP	HGNC	B3KTW3_HUMAN	.	UPI000004A077	SNV	CDKN2AIP,stop_gained,p.Glu64Ter,ENST00000302350,;CDKN2AIP,stop_gained,p.Glu64Ter,ENST00000510928,;CDKN2AIP,stop_gained,p.Glu64Ter,ENST00000504169,;CDKN2AIP,upstream_gene_variant,,ENST00000502924,;CDKN2AIP,upstream_gene_variant,,ENST00000506835,;	397	101	122	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140799054	140799054	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	81	0	ENST00000398594.2:c.1628G>T	p.Ser543Ile	p.S543I	ENST00000398594	NM_018927.3	543	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47293.1	1628	MUTECT|MUSE|VARSCANS	.	GCTCAGCGCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.703)	.	deleterious(0)	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,missense_variant,p.Ser543Ile,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1628	81	79	SUCCESS
ZNF300	91975	.	GRCh37	5	150275398	150275398	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	68	0	ENST00000274599.5:c.1403C>A	p.Thr468Asn	p.T468N	ENST00000274599	NM_052860.2	468	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54940.1	1451	MUTECT|MUSE	.	ATTCAGTACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF288,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000397178	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000446148	Transcript	.	.	ENSG00000145908	13091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.161)	.	tolerated(0.17)	.	.	ZNF300	HGNC	J3KQF6_HUMAN	.	UPI0001AE74AD	SNV	ZNF300,missense_variant,p.Thr432Asn,ENST00000418587,;ZNF300,missense_variant,p.Thr468Asn,ENST00000274599,;ZNF300,missense_variant,p.Thr468Asn,ENST00000394226,;ZNF300,missense_variant,p.Thr484Asn,ENST00000446148,;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	1879	68	90	SUCCESS
C5orf51	285636	.	GRCh37	5	41904516	41904516	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	103	0	ENST00000381647.2:c.47G>A	p.Gly16Glu	p.G16E	ENST00000381647	NM_175921.4	16	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34151.1	47	MUTECT|MUSE|VARSCANS	.	GCTCGGGGATC	NONE	.	.	.	.	.	ENSP00000371061	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000381647	Transcript	.	.	ENSG00000205765	27750	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	CE051_HUMAN	C5orf51	HGNC	.	.	UPI00001D7FA4	SNV	C5orf51,missense_variant,p.Gly16Glu,ENST00000381647,;C5orf51,intron_variant,,ENST00000505931,;C5orf51,non_coding_transcript_exon_variant,,ENST00000509976,;	66	103	103	SUCCESS
GRM4	2914	.	GRCh37	6	34003577	34003577	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	9	101	0	ENST00000538487.2:c.2310T>C	p.Tyr770=	p.Y770=	ENST00000538487	NM_000841.2	770	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS4787.1	2310	MUTECT|MUSE	.	ATGGCATACAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000440556	.	9/11	.	.	.	.	.	.	.	.	.	9/11	nonpreferredpair	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,synonymous_variant,p.%3D,ENST00000544773,;GRM4,synonymous_variant,p.%3D,ENST00000374181,;GRM4,synonymous_variant,p.%3D,ENST00000609222,;GRM4,synonymous_variant,p.%3D,ENST00000455714,;GRM4,synonymous_variant,p.%3D,ENST00000535756,;GRM4,synonymous_variant,p.%3D,ENST00000374177,;GRM4,synonymous_variant,p.%3D,ENST00000538487,;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	2754	101	157	SUCCESS
ANKRD66	100287718	.	GRCh37	6	46726569	46726569	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	51	0	ENST00000565422.1:c.667C>T	p.Leu223Phe	p.L223F	ENST00000565422	NM_001162435.2	223	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS59024.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCTTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24193	.	.	ENSP00000454770	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000565422	Transcript	.	.	ENSG00000230062	44669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	tolerated(0.07)	.	ANR66_HUMAN	ANKRD66	HGNC	.	.	UPI0001F7E3C7	SNV	ANKRD66,missense_variant,p.Leu223Phe,ENST00000565422,;ANKRD66,missense_variant,p.Leu194Phe,ENST00000536046,;ANKRD66,downstream_gene_variant,,ENST00000445060,;RP11-268F1.3,non_coding_transcript_exon_variant,,ENST00000438738,;	672	51	70	SUCCESS
SLC13A1	6561	.	GRCh37	7	122774465	122774465	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	78	0	ENST00000194130.2:c.931A>T	p.Asn311Tyr	p.N311Y	ENST00000194130	NM_022444.3	311	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5786.1	931	MUTECT|MUSE	.	TTACTTGAATC	NONE	.	.	hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF65,Pfam_domain:PF00939	.	.	ENSP00000194130	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000194130	Transcript	.	.	ENSG00000081800	10916	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	S13A1_HUMAN	SLC13A1	HGNC	Q75MH3_HUMAN,Q75LT0_HUMAN,A4D0X1_HUMAN	.	UPI0000049F9D	SNV	SLC13A1,missense_variant,p.Asn311Tyr,ENST00000194130,;SLC13A1,splice_region_variant,,ENST00000539873,;SLC13A1,splice_region_variant,,ENST00000439260,;SLC13A1,splice_region_variant,,ENST00000427975,;	971	78	108	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138768681	138768681	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	68	0	ENST00000242351.5:c.542A>G	p.Asn181Ser	p.N181S	ENST00000242351	NM_020119.3	181	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS5851.1	542	MUTECT|MUSE	.	GACAGTTCCCT	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.899)	.	deleterious(0.04)	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,missense_variant,p.Asn181Ser,ENST00000471652,;ZC3HAV1,missense_variant,p.Asn181Ser,ENST00000464606,;ZC3HAV1,missense_variant,p.Asn181Ser,ENST00000242351,;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;	859	68	84	SUCCESS
SSPO	0	.	GRCh37	7	149520825	149520825	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	59	0	ENST00000378016.2:n.13402C>T		p.*4468*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCAGGCT	NONE	.	.	.	.	.	.	.	93/109	.	.	.	.	.	.	.	.	.	93/109	nonpreferredpair	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000493567,;SSPO,intron_variant,,ENST00000488835,;SSPO,downstream_gene_variant,,ENST00000464974,;SSPO,upstream_gene_variant,,ENST00000472850,;SSPO,upstream_gene_variant,,ENST00000465639,;	13402	59	47	SUCCESS
DPP6	1804	.	GRCh37	7	153750140	153750140	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760726966	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	11	0	ENST00000377770.3:c.235G>A	p.Glu79Lys	p.E79K	ENST00000377770		79	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	235	MUTECT|MUSE	.	GTGACGAGGAG	NONE	byFrequency	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	1/26	.	.	.	.	.	.	.	.	rs760726966,COSM3747707,COSM3747708	1/26	nonpreferredpair	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.022)	.	tolerated(0.36)	0,1,1	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Glu79Lys,ENST00000377770,;DPP6,missense_variant,p.Glu79Lys,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,;AC006019.3,downstream_gene_variant,,ENST00000425591,;	376	11	18	SUCCESS
ZNF517	340385	.	GRCh37	8	146033060	146033060	+	synonymous_variant	Silent	SNP	C	C	T	rs1161267155	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	23	0	ENST00000359971.3:c.759C>T	p.Arg253=	p.R253=	ENST00000359971	NM_213605.2	253	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS6434.1	759	MUTECT|MUSE	.	CACCGCGTCCA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000353058	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000359971	Transcript	.	.	ENSG00000197363	27984	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN517_HUMAN	ZNF517	HGNC	.	.	UPI000045770F	SNV	ZNF517,synonymous_variant,p.%3D,ENST00000359971,;ZNF517,synonymous_variant,p.%3D,ENST00000531720,;ZNF517,synonymous_variant,p.%3D,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,synonymous_variant,p.%3D,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,;	866	23	37	SUCCESS
SVEP1	79987	.	GRCh37	9	113192621	113192621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	118	0	ENST00000374469.1:c.5394G>T	p.Leu1798Phe	p.L1798F	ENST00000374469		1798	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS48004.1	5463	MUTECT|MUSE	.	CCCATCAACTG	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	33/48	.	.	.	.	.	.	.	.	.	33/48	nonpreferredpair	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Leu1821Phe,ENST00000401783,;SVEP1,missense_variant,p.Leu1798Phe,ENST00000374469,;SVEP1,upstream_gene_variant,,ENST00000297826,;	5800	118	151	SUCCESS
KLHL9	55958	.	GRCh37	9	21334572	21334572	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	12	153	0	ENST00000359039.4:c.287A>C	p.His96Pro	p.H96P	ENST00000359039		96	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS6503.1	287	MUTECT|MUSE	.	CCCCATGAAGC	CODON|p.H96Q|c.288T>G|3,BUFFER|p.I93S|c.278T>G|3	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.03)	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,missense_variant,p.His28Pro,ENST00000537938,;KLHL9,missense_variant,p.His96Pro,ENST00000359039,;	808	153	183	SUCCESS
ATG4A	115201	.	GRCh37	X	107335011	107335011	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs1170520188	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	41	0	ENST00000372232.3:c.-46C>G		p.*16*	ENST00000372232	NM_052936.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14538.1	.	MUTECT|MUSE	.	CCGTCCGTAGT	NONE	.	.	.	.	.	ENSP00000361306	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000372232	Transcript	.	.	ENSG00000101844	16489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATG4A_HUMAN	ATG4A	HGNC	.	.	UPI000000DCAF	SNV	ATG4A,5_prime_UTR_variant,,ENST00000372254,;ATG4A,5_prime_UTR_variant,,ENST00000372232,;ATG4A,5_prime_UTR_variant,,ENST00000345734,;ATG4A,5_prime_UTR_variant,,ENST00000457035,;PSMD10,upstream_gene_variant,,ENST00000340200,;PSMD10,upstream_gene_variant,,ENST00000361815,;PSMD10,upstream_gene_variant,,ENST00000372296,;ATG4A,upstream_gene_variant,,ENST00000545696,;PSMD10,upstream_gene_variant,,ENST00000372295,;PSMD10,upstream_gene_variant,,ENST00000217958,;PSMD10,upstream_gene_variant,,ENST00000338548,;ATG4A,upstream_gene_variant,,ENST00000343524,;ATG4A,upstream_gene_variant,,ENST00000372246,;PSMD10,upstream_gene_variant,,ENST00000553388,;	114	41	44	SUCCESS
KIAA1210	57481	.	GRCh37	X	118250523	118250523	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1312805334	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	11	107	0	ENST00000402510.2:c.586T>C	p.Ser196Pro	p.S196P	ENST00000402510	NM_020721.1	196	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS48156.1	586	MUTECT|MUSE|VARSCANS	.	GCTGGACAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036	.	.	ENSP00000384670	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.316)	.	tolerated(0.09)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Ser196Pro,ENST00000402510,;	586	107	139	SUCCESS
GRIA3	2892	.	GRCh37	X	122536848	122536848	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	479	28	465	0	ENST00000541091.1:c.1036C>A	p.Gln346Lys	p.Q346K	ENST00000541091		346	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS14604.1	1084	MUTECT|MUSE	.	AGGTGCAAGTA	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	8/16	.	.	.	.	.	.	.	.	COSM3843445,COSM3843447,COSM3843446,COSM3843448	8/16	nonpreferredpair	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1,1	.	.	benign(0.042)	.	tolerated(0.13)	1,1,1,1	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,missense_variant,p.Gln362Lys,ENST00000371256,;GRIA3,missense_variant,p.Gln362Lys,ENST00000542149,;GRIA3,missense_variant,p.Gln362Lys,ENST00000264357,;GRIA3,missense_variant,p.Gln346Lys,ENST00000541091,;GRIA3,missense_variant,p.Gln362Lys,ENST00000371251,;	1376	465	507	SUCCESS
ARHGEF6	9459	.	GRCh37	X	135767837	135767837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	61	0	ENST00000250617.6:c.1391A>G	p.Glu464Gly	p.E464G	ENST00000250617	NM_004840.2	464	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS14660.1	1391	MUTECT|MUSE	.	TTACCTCACAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000250617	.	12/22	.	.	.	.	.	.	.	.	.	12/22	nonpreferredpair	ENST00000250617	Transcript	.	.	ENSG00000129675	685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	deleterious(0.01)	.	ARHG6_HUMAN	ARHGEF6	HGNC	.	.	UPI0000001C8E	SNV	ARHGEF6,missense_variant,p.Glu310Gly,ENST00000370620,;ARHGEF6,missense_variant,p.Glu464Gly,ENST00000250617,;ARHGEF6,missense_variant,p.Glu310Gly,ENST00000370622,;ARHGEF6,missense_variant,p.Glu337Gly,ENST00000535227,;	2597	61	65	SUCCESS
KLHL4	56062	.	GRCh37	X	86772799	86772799	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	59	0	ENST00000373119.4:c.-98G>A		p.*33*	ENST00000373119	NM_019117.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14456.1	.	MUTECT|MUSE	.	CTTGTGCTTTT	NONE	.	18	.	.	.	ENSP00000362206	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,5_prime_UTR_variant,,ENST00000373119,;KLHL4,upstream_gene_variant,,ENST00000373114,;	.	59	80	SUCCESS
KLHL4	56062	.	GRCh37	X	86772813	86772813	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	13	70	0	ENST00000373119.4:c.-84T>G		p.*28*	ENST00000373119	NM_019117.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14456.1	.	RADIA|MUTECT|MUSE	.	AGTTCTACAGA	NONE	.	4	.	.	.	ENSP00000362206	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,5_prime_UTR_variant,,ENST00000373119,;KLHL4,upstream_gene_variant,,ENST00000373114,;	.	70	105	SUCCESS
TCF7L2	6934	.	GRCh37	10	114912183	114912183	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	43	0	ENST00000543371.1:c.1253C>A	p.Ser418Tyr	p.S418Y	ENST00000543371	NM_001198531.1	418	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS53577.1	1253	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCCGCGC	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000444972	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000543371	Transcript	1	.	ENSG00000148737	11641	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TF7L2_HUMAN	TCF7L2	HGNC	E2GH26_HUMAN,C6ZRJ8_HUMAN	.	UPI000002B4A6	SNV	TCF7L2,missense_variant,p.Ser418Tyr,ENST00000538897,;TCF7L2,missense_variant,p.Ser134Tyr,ENST00000542695,;TCF7L2,missense_variant,p.Ser135Tyr,ENST00000277945,;TCF7L2,missense_variant,p.Ser129Tyr,ENST00000369389,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000534894,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000543371,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000545257,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000355995,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000536810,;TCF7L2,missense_variant,p.Ser61Tyr,ENST00000369386,;TCF7L2,missense_variant,p.Ser395Tyr,ENST00000352065,;TCF7L2,missense_variant,p.Ser442Tyr,ENST00000355717,;TCF7L2,missense_variant,p.Ser395Tyr,ENST00000369397,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000466338,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000480888,;TCF7L2,missense_variant,p.Ser49Tyr,ENST00000470254,;	1760	43	55	SUCCESS
USP6NL	9712	.	GRCh37	10	11505005	11505005	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	39	0	ENST00000609104.1:c.1922A>C	p.Asn641Thr	p.N641T	ENST00000609104	NM_014688.2	641	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS44357.1	1973	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTTTCCG	NONE	.	.	.	.	.	ENSP00000277575	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000277575	Transcript	.	.	ENSG00000148429	16858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.575)	.	deleterious_low_confidence(0.02)	.	US6NL_HUMAN	USP6NL	HGNC	.	.	UPI0000251ED1	SNV	USP6NL,missense_variant,p.Asn641Thr,ENST00000609104,;USP6NL,missense_variant,p.Asn664Thr,ENST00000379237,;USP6NL,missense_variant,p.Asn658Thr,ENST00000277575,;	2016	39	46	SUCCESS
MPP7	143098	.	GRCh37	10	28378706	28378706	+	synonymous_variant	Silent	SNP	T	T	C	rs1242855948	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	10	110	0	ENST00000337532.5:c.1017A>G	p.Glu339=	p.E339=	ENST00000337532	NM_173496.3	339	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS7158.1	1017	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCATTCATA	NONE	.	.	hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	.	.	ENSP00000337907	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000337532	Transcript	.	.	ENSG00000150054	26542	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MPP7_HUMAN	MPP7	HGNC	.	.	UPI00000558E1	SNV	MPP7,synonymous_variant,p.%3D,ENST00000441595,;MPP7,synonymous_variant,p.%3D,ENST00000445954,;MPP7,synonymous_variant,p.%3D,ENST00000375719,;MPP7,synonymous_variant,p.%3D,ENST00000375732,;MPP7,synonymous_variant,p.%3D,ENST00000540098,;MPP7,synonymous_variant,p.%3D,ENST00000337532,;MPP7,synonymous_variant,p.%3D,ENST00000496637,;	1294	110	89	SUCCESS
RET	5979	.	GRCh37	10	43598063	43598063	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	61	0	ENST00000355710.3:c.611A>G	p.Tyr204Cys	p.Y204C	ENST00000355710	NM_020975.4	204	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7200.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTACAGGC	NONE	.	.	Superfamily_domains:SSF49313,PIRSF_domain:PIRSF000631,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416,PROSITE_profiles:PS50268	.	.	ENSP00000347942	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000355710	Transcript	1	.	ENSG00000165731	9967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	RET_HUMAN	RET	HGNC	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	.	UPI00001336E1	SNV	RET,missense_variant,p.Tyr204Cys,ENST00000340058,;RET,missense_variant,p.Tyr204Cys,ENST00000355710,;RET,intron_variant,,ENST00000498820,;RET,upstream_gene_variant,,ENST00000479913,;	843	61	32	SUCCESS
ERCC6	2074	.	GRCh37	10	50669432	50669432	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs937200876	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	50	0	ENST00000355832.5:c.3949C>T	p.His1317Tyr	p.H1317Y	ENST00000355832	NM_000124.3	1317	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS7229.1	3949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGGCCAG	NONE	.	.	hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799	.	.	ENSP00000348089	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000355832	Transcript	1	.	ENSG00000225830	3438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.08)	.	ERCC6_HUMAN	ERCC6	HGNC	F5H493_HUMAN,D6R9X7_HUMAN	.	UPI000000D8DA	SNV	ERCC6,missense_variant,p.His687Tyr,ENST00000542458,;ERCC6,missense_variant,p.His1317Tyr,ENST00000355832,;RP11-123B3.2,intron_variant,,ENST00000423283,;ERCC6,non_coding_transcript_exon_variant,,ENST00000465653,;	4028	51	37	SUCCESS
ARID5B	84159	.	GRCh37	10	63850753	63850753	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	14	153	0	ENST00000279873.7:c.1531A>T	p.Arg511Ter	p.R511*	ENST00000279873	NM_032199.2	511	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS31208.1	1531	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGAGTA	NONE	.	.	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22	.	.	ENSP00000279873	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,stop_gained,p.Arg511Ter,ENST00000279873,;ARID5B,stop_gained,p.Arg268Ter,ENST00000309334,;	1941	153	140	SUCCESS
SLIT1	6585	.	GRCh37	10	98762480	98762480	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373006664	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	43	0	ENST00000266058.4:c.4135G>A	p.Gly1379Ser	p.G1379S	ENST00000266058	NM_003061.2	1379	Ggc/Agc	0	T:0	.	.	.	.	T	G/S	protein_coding	YES	CCDS7453.1	4135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCGTCAG	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2gy5A03	.	T:0.0001	ENSP00000266058	.	35/37	.	.	.	.	.	.	.	.	rs373006664	35/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.07)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Gly1379Ser,ENST00000371070,;SLIT1,missense_variant,p.Gly1379Ser,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;SLIT1,upstream_gene_variant,,ENST00000494968,;	4381	43	30	SUCCESS
SLIT1	6585	.	GRCh37	10	98945408	98945408	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	28	0	ENST00000266058.4:c.24G>A	p.Gly8=	p.G8=	ENST00000266058	NM_003061.2	8	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7453.1	24	MUTECT|MUSE	.	GAGGACCCCCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000266058	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,synonymous_variant,p.%3D,ENST00000371041,;SLIT1,synonymous_variant,p.%3D,ENST00000371070,;SLIT1,synonymous_variant,p.%3D,ENST00000266058,;ARHGAP19-SLIT1,intron_variant,,ENST00000453547,;SLIT1,upstream_gene_variant,,ENST00000314867,;SLIT1,non_coding_transcript_exon_variant,,ENST00000456008,;ARHGAP19-SLIT1,intron_variant,,ENST00000479633,;	270	28	19	SUCCESS
MMP13	4322	.	GRCh37	11	102826222	102826222	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs767829684	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	65	0	ENST00000260302.3:c.121C>T	p.Arg41Cys	p.R41C	ENST00000260302	NM_002427.3	41	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8324.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGCTAGA	NONE	.	.	hmmpanther:PTHR10201:SF130,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000260302	.	2/10	.	.	.	.	.	.	.	.	rs767829684,COSM1350433	2/10	PASS	ENST00000260302	Transcript	.	.	ENSG00000137745	7159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.51)	.	deleterious(0)	0,1	MMP13_HUMAN	MMP13	HGNC	Q6LBE5_HUMAN	.	UPI00000422BC	SNV	MMP13,missense_variant,p.Arg41Cys,ENST00000260302,;MMP13,missense_variant,p.Arg41Cys,ENST00000340273,;	150	65	72	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103060527	103060527	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	85	0	ENST00000375735.2:c.7419G>C	p.Met2473Ile	p.M2473I	ENST00000375735	NM_001080463.1	2473	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS44717.1	7419	RADIA|MUTECT|MUSE|VARSCANS	.	TCTATGGTACA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Superfamily_domains:SSF52540	.	.	ENSP00000381167	.	45/90	.	.	.	.	.	.	.	.	.	45/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.106)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Met2473Ile,ENST00000398093,;DYNC2H1,missense_variant,p.Met2473Ile,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	7419	85	77	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103229042	103229042	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	5	104	0	ENST00000375735.2:c.12111T>C	p.Ser4037=	p.S4037=	ENST00000375735	NM_001080463.1	4037	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS44717.1	12132	MUTECT|MUSE	.	TGGTCTAATGA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF03028	.	.	ENSP00000381167	.	84/90	.	.	.	.	.	.	.	.	.	84/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,synonymous_variant,p.%3D,ENST00000398093,;DYNC2H1,synonymous_variant,p.%3D,ENST00000375735,;DYNC2H1,synonymous_variant,p.%3D,ENST00000533197,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;	12132	104	88	SUCCESS
ELMOD1	55531	.	GRCh37	11	107463045	107463045	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	86	0	ENST00000265840.7:c.-86+910A>C		p.*29*	ENST00000265840	NM_018712.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTAGGAAA	NONE	.	.	.	.	.	ENSP00000472830	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000600612	Transcript	.	.	ENSG00000268467	.	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AP000889.3	Clone_based_ensembl_gene	Q96LP0_HUMAN	.	UPI000006D120	SNV	AP000889.3,splice_acceptor_variant,,ENST00000600612,;ELMOD1,intron_variant,,ENST00000443271,;ELMOD1,intron_variant,,ENST00000531234,;ELMOD1,intron_variant,,ENST00000265840,;ELMOD1,splice_acceptor_variant,,ENST00000529675,;ELMOD1,intron_variant,,ENST00000524378,;ELMOD1,intron_variant,,ENST00000527036,;	.	86	67	SUCCESS
ATM	472	.	GRCh37	11	108114704	108114704	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	60	251	0	ENST00000278616.4:c.521T>G	p.Leu174Arg	p.L174R	ENST00000278616	NM_000051.3	174	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS31669.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTCTATC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	6/63	.	.	.	.	.	.	.	.	.	6/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Leu174Arg,ENST00000278616,;ATM,missense_variant,p.Leu174Arg,ENST00000527805,;ATM,missense_variant,p.Leu174Arg,ENST00000452508,;ATM,missense_variant,p.Leu119Arg,ENST00000527891,;	906	251	254	SUCCESS
CCDC84	0	.	GRCh37	11	118869172	118869172	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	51	0	ENST00000334418.1:c.153T>G	p.Ala51=	p.A51=	ENST00000334418	NM_198489.1	51	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8405.1	153	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTCAGGT	NONE	.	.	hmmpanther:PTHR31198,Pfam_domain:PF14968	.	.	ENSP00000334767	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000334418	Transcript	.	.	ENSG00000186166	30460	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD84_HUMAN	CCDC84	HGNC	.	.	UPI0000192104	SNV	CCDC84,synonymous_variant,p.%3D,ENST00000334418,;RP11-110I1.12,upstream_gene_variant,,ENST00000526453,;RP11-110I1.12,upstream_gene_variant,,ENST00000582695,;RN7SL529P,downstream_gene_variant,,ENST00000467146,;CCDC84,upstream_gene_variant,,ENST00000580556,;CCDC84,synonymous_variant,p.%3D,ENST00000526463,;CCDC84,synonymous_variant,p.%3D,ENST00000532132,;CCDC84,non_coding_transcript_exon_variant,,ENST00000524670,;CCDC84,non_coding_transcript_exon_variant,,ENST00000534656,;RPL23AP64,downstream_gene_variant,,ENST00000469465,;	209	51	42	SUCCESS
OR5D18	219438	.	GRCh37	11	55587564	55587564	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	140	0	ENST00000333976.4:c.459A>T	p.Gly153=	p.G153=	ENST00000333976	NM_001001952.1	153	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31510.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGAGTCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	COSM390453	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,synonymous_variant,p.%3D,ENST00000333976,;	479	140	141	SUCCESS
OR8K1	390157	.	GRCh37	11	56113645	56113645	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745473378	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	112	0	ENST00000279783.2:c.131C>A	p.Thr44Lys	p.T44K	ENST00000279783	NM_001002907.1	44	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31528.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCACAGTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	rs745473378	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	deleterious_low_confidence(0)	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,missense_variant,p.Thr44Lys,ENST00000279783,;	225	112	112	SUCCESS
SHANK2	22941	.	GRCh37	11	70332701	70332701	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	62	0	ENST00000423696.2:c.2560G>A	p.Gly854Arg	p.G854R	ENST00000423696		854	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	.	3700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCCTGTT	NONE	.	.	hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	32/33	.	.	.	.	.	.	.	.	.	32/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	tolerated(0.4)	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Gly637Arg,ENST00000409161,;SHANK2,missense_variant,p.Gly512Arg,ENST00000424924,;SHANK2,missense_variant,p.Gly854Arg,ENST00000423696,;SHANK2,missense_variant,p.Gly857Arg,ENST00000294018,;SHANK2,missense_variant,p.Gly1234Arg,ENST00000338508,;SHANK2,missense_variant,p.Gly638Arg,ENST00000449833,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000449116,;	3700	62	75	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834659	125834659	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	70	1	ENST00000299308.3:c.714G>T	p.Trp238Cys	p.W238C	ENST00000299308	NM_052907.2	238	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS41859.1	714	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGGGAGAA	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	COSM3457897	2/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.946)	.	tolerated(0.15)	1	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Trp238Cys,ENST00000299308,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,downstream_gene_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	722	71	51	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834660	125834660	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	70	1	ENST00000299308.3:c.715G>T	p.Glu239Ter	p.E239*	ENST00000299308	NM_052907.2	239	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41859.1	715	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGAGAAC	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,stop_gained,p.Glu239Ter,ENST00000299308,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,downstream_gene_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	723	71	51	SUCCESS
ITPR2	3709	.	GRCh37	12	26572000	26572000	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs375944693	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	69	0	ENST00000381340.3:c.7092A>C	p.Glu2364Asp	p.E2364D	ENST00000381340	NM_002223.2	2364	gaA/gaC	0	C:0.001	.	.	.	.	G	E/D	protein_coding	YES	CCDS41764.1	7092	MUTECT|MUSE	.	AAGAATTCATG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13715,Pfam_domain:PF00520	.	C:0	ENSP00000370744	.	50/57	.	.	.	.	.	.	.	.	rs375944693	50/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.304)	.	tolerated(0.2)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Glu2364Asp,ENST00000381340,;RP11-513G19.1,intron_variant,,ENST00000535324,;ITPR2,3_prime_UTR_variant,,ENST00000451599,;ITPR2,non_coding_transcript_exon_variant,,ENST00000538984,;	7509	69	51	SUCCESS
LETMD1	25875	.	GRCh37	12	51442826	51442826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	87	0	ENST00000262055.4:c.132G>T	p.Lys44Asn	p.K44N	ENST00000262055	NM_015416.4	44	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS58231.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGCTTCA	NONE	.	.	hmmpanther:PTHR14009:SF10,hmmpanther:PTHR14009	.	.	ENSP00000389903	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000418425	Transcript	.	.	ENSG00000050426	24241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.08)	.	LTMD1_HUMAN	LETMD1	HGNC	F8VR35_HUMAN,F8VR33_HUMAN	.	UPI00001FC268	SNV	LETMD1,missense_variant,p.Lys11Asn,ENST00000551477,;LETMD1,missense_variant,p.Lys44Asn,ENST00000547008,;LETMD1,missense_variant,p.Lys44Asn,ENST00000550442,;LETMD1,missense_variant,p.Lys44Asn,ENST00000418425,;LETMD1,missense_variant,p.Lys44Asn,ENST00000548209,;LETMD1,missense_variant,p.Lys51Asn,ENST00000548401,;LETMD1,missense_variant,p.Lys44Asn,ENST00000548251,;LETMD1,missense_variant,p.Lys44Asn,ENST00000262055,;LETMD1,missense_variant,p.Lys44Asn,ENST00000380123,;LETMD1,missense_variant,p.Lys44Asn,ENST00000549340,;LETMD1,5_prime_UTR_variant,,ENST00000550814,;LETMD1,5_prime_UTR_variant,,ENST00000550929,;LETMD1,5_prime_UTR_variant,,ENST00000547660,;LETMD1,intron_variant,,ENST00000552739,;LETMD1,upstream_gene_variant,,ENST00000547256,;LETMD1,non_coding_transcript_exon_variant,,ENST00000552430,;LETMD1,non_coding_transcript_exon_variant,,ENST00000548516,;LETMD1,non_coding_transcript_exon_variant,,ENST00000550446,;LETMD1,non_coding_transcript_exon_variant,,ENST00000547029,;LETMD1,non_coding_transcript_exon_variant,,ENST00000553175,;LETMD1,missense_variant,p.Lys44Asn,ENST00000550100,;LETMD1,missense_variant,p.Lys44Asn,ENST00000380135,;LETMD1,missense_variant,p.Lys44Asn,ENST00000547318,;LETMD1,missense_variant,p.Lys44Asn,ENST00000551261,;LETMD1,3_prime_UTR_variant,,ENST00000547555,;LETMD1,5_prime_UTR_variant,,ENST00000550755,;LETMD1,non_coding_transcript_exon_variant,,ENST00000552645,;LETMD1,non_coding_transcript_exon_variant,,ENST00000546992,;LETMD1,non_coding_transcript_exon_variant,,ENST00000550715,;LETMD1,non_coding_transcript_exon_variant,,ENST00000547877,;LETMD1,non_coding_transcript_exon_variant,,ENST00000548390,;LETMD1,intron_variant,,ENST00000549686,;	151	87	65	SUCCESS
NXPH4	11247	.	GRCh37	12	57619424	57619424	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	49	0	ENST00000349394.5:c.821T>C	p.Phe274Ser	p.F274S	ENST00000349394	NM_007224.3	274	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS8933.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTTCAAAG	NONE	.	.	hmmpanther:PTHR17103:SF10,hmmpanther:PTHR17103,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000333593	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000349394	Transcript	.	.	ENSG00000182379	8078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NXPH4_HUMAN	NXPH4	HGNC	.	.	UPI000004C619	SNV	NXPH4,missense_variant,p.Phe274Ser,ENST00000349394,;SHMT2,upstream_gene_variant,,ENST00000414700,;SHMT2,upstream_gene_variant,,ENST00000554975,;SHMT2,upstream_gene_variant,,ENST00000557427,;SHMT2,upstream_gene_variant,,ENST00000557487,;SHMT2,upstream_gene_variant,,ENST00000393827,;SHMT2,upstream_gene_variant,,ENST00000553529,;SHMT2,upstream_gene_variant,,ENST00000328923,;SHMT2,upstream_gene_variant,,ENST00000449049,;SHMT2,upstream_gene_variant,,ENST00000554310,;SHMT2,upstream_gene_variant,,ENST00000555773,;SHMT2,upstream_gene_variant,,ENST00000556689,;SHMT2,upstream_gene_variant,,ENST00000557703,;SHMT2,upstream_gene_variant,,ENST00000553474,;SHMT2,upstream_gene_variant,,ENST00000555634,;Y_RNA,upstream_gene_variant,,ENST00000365197,;SHMT2,upstream_gene_variant,,ENST00000554600,;SHMT2,upstream_gene_variant,,ENST00000554656,;NXPH4,downstream_gene_variant,,ENST00000555154,;SHMT2,upstream_gene_variant,,ENST00000557740,;NXPH4,3_prime_UTR_variant,,ENST00000556415,;SHMT2,upstream_gene_variant,,ENST00000557302,;SHMT2,upstream_gene_variant,,ENST00000556825,;SHMT2,upstream_gene_variant,,ENST00000553950,;SHMT2,upstream_gene_variant,,ENST00000557269,;SHMT2,upstream_gene_variant,,ENST00000553837,;SHMT2,upstream_gene_variant,,ENST00000557433,;SHMT2,upstream_gene_variant,,ENST00000557348,;SHMT2,upstream_gene_variant,,ENST00000555563,;SHMT2,upstream_gene_variant,,ENST00000555774,;SHMT2,upstream_gene_variant,,ENST00000555116,;SHMT2,upstream_gene_variant,,ENST00000554604,;SHMT2,upstream_gene_variant,,ENST00000554467,;SHMT2,upstream_gene_variant,,ENST00000553324,;	996	49	49	SUCCESS
METTL21B	0	.	GRCh37	12	58174205	58174205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	44	0	ENST00000300209.8:c.457G>T	p.Val153Leu	p.V153L	ENST00000300209	NM_015433.2	153	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS8957.1	457	MUTECT|MUSE	.	ATATCGTGTAC	NONE	.	.	hmmpanther:PTHR14614:SF5,hmmpanther:PTHR14614,Pfam_domain:PF10294,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000300209	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000300209	Transcript	.	.	ENSG00000123427	24936	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MT21B_HUMAN	METTL21B	HGNC	F8W226_HUMAN	.	UPI000006CEB5	SNV	METTL21B,missense_variant,p.Val153Leu,ENST00000300209,;METTL21B,5_prime_UTR_variant,,ENST00000551420,;METTL21B,3_prime_UTR_variant,,ENST00000548256,;METTL21B,3_prime_UTR_variant,,ENST00000333012,;RP11-571M6.15,intron_variant,,ENST00000546504,;TSFM,upstream_gene_variant,,ENST00000457189,;TSFM,upstream_gene_variant,,ENST00000543727,;TSFM,upstream_gene_variant,,ENST00000323833,;TSFM,upstream_gene_variant,,ENST00000540550,;TSFM,upstream_gene_variant,,ENST00000548851,;TSFM,upstream_gene_variant,,ENST00000434359,;TSFM,upstream_gene_variant,,ENST00000350762,;TSFM,upstream_gene_variant,,ENST00000550559,;TSFM,upstream_gene_variant,,ENST00000454289,;RP11-571M6.15,intron_variant,,ENST00000553083,;TSFM,upstream_gene_variant,,ENST00000497617,;RP11-571M6.15,intron_variant,,ENST00000471530,;TSFM,upstream_gene_variant,,ENST00000417094,;	582	44	47	SUCCESS
LPCAT3	10162	.	GRCh37	12	7125774	7125774	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs781931936	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	63	0	ENST00000261407.4:c.-46G>C		p.*16*	ENST00000261407	NM_005768.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8572.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCGAATG	NONE	.	.	.	.	.	ENSP00000261407	.	1/13	.	.	.	.	.	.	.	.	rs781931936	1/13	PASS	ENST00000261407	Transcript	.	.	ENSG00000111684	30244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBOA5_HUMAN	LPCAT3	HGNC	F5H0M4_HUMAN	.	UPI0000034DFC	SNV	LPCAT3,5_prime_UTR_variant,,ENST00000261407,;C1S,intron_variant,,ENST00000406697,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000536971,;LPCAT3,5_prime_UTR_variant,,ENST00000538910,;LPCAT3,5_prime_UTR_variant,,ENST00000540090,;LPCAT3,5_prime_UTR_variant,,ENST00000535479,;LPCAT3,5_prime_UTR_variant,,ENST00000543794,;LPCAT3,5_prime_UTR_variant,,ENST00000536797,;	41	63	34	SUCCESS
ITGBL1	9358	.	GRCh37	13	102345029	102345029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	126	0	ENST00000376180.3:c.1110C>A	p.Asp370Glu	p.D370E	ENST00000376180	NM_004791.2	370	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9499.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACCTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF3,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000365351	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000376180	Transcript	.	.	ENSG00000198542	6164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.1)	.	ITGBL_HUMAN	ITGBL1	HGNC	B3KTP1_HUMAN	.	UPI0000073C95	SNV	ITGBL1,missense_variant,p.Asp277Glu,ENST00000376162,;ITGBL1,missense_variant,p.Asp84Glu,ENST00000490242,;ITGBL1,missense_variant,p.Asp370Glu,ENST00000376180,;ITGBL1,missense_variant,p.Asp229Glu,ENST00000545560,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000474233,;	1329	126	95	SUCCESS
IRS2	8660	.	GRCh37	13	110436226	110436226	+	synonymous_variant	Silent	SNP	G	G	A	rs781154356	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	26	0	ENST00000375856.3:c.2175C>T	p.Gly725=	p.G725=	ENST00000375856	NM_003749.2	725	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9510.1	2175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGCCCCC	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	rs781154356	1/2	PASS	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,synonymous_variant,p.%3D,ENST00000375856,;	2690	26	18	SUCCESS
ATP7B	540	.	GRCh37	13	52542657	52542657	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs766906034	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	97	0	ENST00000242839.4:c.1630C>G	p.Gln544Glu	p.Q544E	ENST00000242839	NM_000053.3	544	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS41892.1	1630	MUTECT|MUSE|VARSCANS	.	GAACTGAGCTA	NONE	byFrequency	.	PROSITE_profiles:PS50846,hmmpanther:PTHR24093:SF239,hmmpanther:PTHR24093,Pfam_domain:PF00403,Gene3D:3.30.70.100,TIGRFAM_domain:TIGR00003,Superfamily_domains:SSF55008,Prints_domain:PR00942	.	.	ENSP00000242839	.	4/21	.	.	.	.	.	.	.	.	rs766906034,CM970137	4/21	PASS	ENST00000242839	Transcript	.	.	ENSG00000123191	870	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.038)	.	tolerated(0.86)	.	ATP7B_HUMAN	ATP7B	HGNC	G1FFF2_HUMAN,D3KCZ0_HUMAN,C8BMD5_HUMAN,A6YQZ1_HUMAN	.	UPI00001FCE15	SNV	ATP7B,missense_variant,p.Gln544Glu,ENST00000418097,;ATP7B,missense_variant,p.Gln544Glu,ENST00000344297,;ATP7B,missense_variant,p.Gln544Glu,ENST00000242839,;ATP7B,missense_variant,p.Gln433Glu,ENST00000400366,;ATP7B,missense_variant,p.Gln544Glu,ENST00000448424,;ATP7B,intron_variant,,ENST00000400370,;ATP7B,intron_variant,,ENST00000542656,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,non_coding_transcript_exon_variant,,ENST00000483772,;FABP5P2,downstream_gene_variant,,ENST00000439042,;	1787	97	89	SUCCESS
OR4M1	441670	.	GRCh37	14	20248815	20248815	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	23	222	0	ENST00000315957.4:c.334A>G	p.Met112Val	p.M112V	ENST00000315957	NM_001005500.1	112	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS32021.1	334	RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGATGTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000319654	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315957	Transcript	.	.	ENSG00000176299	14735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.5)	.	OR4M1_HUMAN	OR4M1	HGNC	.	.	UPI0000061F0F	SNV	OR4M1,missense_variant,p.Met112Val,ENST00000315957,;OR4N2,intron_variant,,ENST00000557414,;	415	222	197	SUCCESS
TMEM63C	57156	.	GRCh37	14	77705090	77705090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	136	0	ENST00000298351.4:c.705A>T	p.Glu235Asp	p.E235D	ENST00000298351	NM_020431.2	235	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45141.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAACTCAT	NONE	.	.	hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018	.	.	ENSP00000298351	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000298351	Transcript	.	.	ENSG00000165548	23787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.09)	.	TM63C_HUMAN	TMEM63C	HGNC	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN	.	UPI0000049C5C	SNV	TMEM63C,missense_variant,p.Glu235Asp,ENST00000298351,;	849	136	106	SUCCESS
MAPK6	5597	.	GRCh37	15	52356857	52356857	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766643187	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	333	21	359	0	ENST00000261845.5:c.1826A>G	p.Gln609Arg	p.Q609R	ENST00000261845	NM_002748.3	609	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS10147.1	1826	MUTECT|MUSE	.	AAATCAGTTTT	NONE	byFrequency	.	.	.	.	ENSP00000261845	.	6/6	.	.	.	.	.	.	.	.	rs766643187	6/6	PASS	ENST00000261845	Transcript	.	.	ENSG00000069956	6879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.115)	.	deleterious_low_confidence(0.02)	.	MK06_HUMAN	MAPK6	HGNC	.	.	UPI000012F177	SNV	MAPK6,missense_variant,p.Gln609Arg,ENST00000261845,;CTD-2184D3.5,intron_variant,,ENST00000558607,;	2633	359	355	SUCCESS
VPS13C	54832	.	GRCh37	15	62146685	62146685	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	91	0	ENST00000261517.5:c.11233A>C	p.Arg3745=	p.R3745=	ENST00000261517	NM_020821.2	3745	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS32257.1	11233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCTCACTG	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	85/85	.	.	.	.	.	.	.	.	.	85/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,synonymous_variant,p.%3D,ENST00000261517,;VPS13C,synonymous_variant,p.%3D,ENST00000249837,;RP11-16B9.1,downstream_gene_variant,,ENST00000559251,;VPS13C,non_coding_transcript_exon_variant,,ENST00000559119,;VPS13C,non_coding_transcript_exon_variant,,ENST00000560637,;	11307	91	95	SUCCESS
AKAP13	11214	.	GRCh37	15	86273887	86273887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	71	0	ENST00000394518.2:c.7231A>G	p.Thr2411Ala	p.T2411A	ENST00000394518	NM_007200.4	2411	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS32320.1	7243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACACAGAA	NONE	.	.	hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	30/37	.	.	.	.	.	.	.	.	.	30/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.07)	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,missense_variant,p.Thr2411Ala,ENST00000394518,;AKAP13,missense_variant,p.Thr2415Ala,ENST00000361243,;AKAP13,missense_variant,p.Thr656Ala,ENST00000394510,;RP11-158M2.2,upstream_gene_variant,,ENST00000561417,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560579,;AKAP13,downstream_gene_variant,,ENST00000560676,;AKAP13,upstream_gene_variant,,ENST00000559391,;AKAP13,downstream_gene_variant,,ENST00000558644,;	7324	71	69	SUCCESS
MFGE8	4240	.	GRCh37	15	89443027	89443027	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	72	0	ENST00000268150.8:c.886T>A	p.Ser296Thr	p.S296T	ENST00000268150	NM_005928.2	296	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS10347.1	886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGAGGAGC	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Pfam_domain:PF00754,Gene3D:2.60.120.260,PROSITE_patterns:PS01285,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,PROSITE_profiles:PS50022	.	.	ENSP00000268150	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000268150	Transcript	.	.	ENSG00000140545	7036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.66)	.	MFGM_HUMAN	MFGE8	HGNC	.	.	UPI000013D7A3	SNV	MFGE8,missense_variant,p.Ser252Thr,ENST00000542878,;MFGE8,missense_variant,p.Ser296Thr,ENST00000566497,;MFGE8,missense_variant,p.Ser288Thr,ENST00000539437,;MFGE8,missense_variant,p.Ser296Thr,ENST00000268150,;MFGE8,intron_variant,,ENST00000268151,;HAPLN3,upstream_gene_variant,,ENST00000562281,;HAPLN3,upstream_gene_variant,,ENST00000359595,;MFGE8,downstream_gene_variant,,ENST00000558029,;HAPLN3,upstream_gene_variant,,ENST00000562889,;MFGE8,downstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,;MFGE8,non_coding_transcript_exon_variant,,ENST00000560937,;HAPLN3,upstream_gene_variant,,ENST00000558770,;HAPLN3,upstream_gene_variant,,ENST00000563808,;	978	72	88	SUCCESS
BLM	641	.	GRCh37	15	91347543	91347543	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	39	167	0	ENST00000355112.3:c.3705C>A	p.Val1235=	p.V1235=	ENST00000355112	NM_000057.2	1235	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10363.1	3705	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCCATTA	NONE	.	.	PROSITE_profiles:PS50967,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF70,Gene3D:1.10.150.80,Pfam_domain:PF00570,SMART_domains:SM00341,Superfamily_domains:SSF47819	.	.	ENSP00000347232	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000355112	Transcript	1	.	ENSG00000197299	1058	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BLM_HUMAN	BLM	HGNC	.	.	UPI00001269FA	SNV	BLM,synonymous_variant,p.%3D,ENST00000355112,;BLM,intron_variant,,ENST00000560509,;BLM,non_coding_transcript_exon_variant,,ENST00000560136,;BLM,upstream_gene_variant,,ENST00000560821,;BLM,3_prime_UTR_variant,,ENST00000559724,;BLM,non_coding_transcript_exon_variant,,ENST00000558825,;	3823	167	178	SUCCESS
MAN2A2	4122	.	GRCh37	15	91448631	91448631	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	62	0	ENST00000360468.3:c.283A>G	p.Asn95Asp	p.N95D	ENST00000360468	NM_006122.2	95	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS32332.1	283	MUTECT|MUSE|VARSCANS	.	CGGTCAATGGC	NONE	.	.	hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	tolerated(0.15)	.	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Asn95Asp,ENST00000360468,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000559999,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000559717,;MAN2A2,missense_variant,p.Asn9Asp,ENST00000559132,;MAN2A2,upstream_gene_variant,,ENST00000557865,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,upstream_gene_variant,,ENST00000560616,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,upstream_gene_variant,,ENST00000431652,;MAN2A2,upstream_gene_variant,,ENST00000558640,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000558161,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,upstream_gene_variant,,ENST00000561046,;	301	62	60	SUCCESS
KIAA0430	0	.	GRCh37	16	15727524	15727524	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	84	0	ENST00000396368.3:c.1183G>A	p.Asp395Asn	p.D395N	ENST00000396368	NM_001184998.1	395	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10562.2	1183	RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCACATA	NONE	.	.	Gene3D:3.40.50.1010,Pfam_domain:PF01936,hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379	.	.	ENSP00000379654	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000396368	Transcript	.	.	ENSG00000166783	29562	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.839)	.	deleterious(0)	.	MARF1_HUMAN	KIAA0430	HGNC	F8VRS5_HUMAN	.	UPI00006881BC	SNV	KIAA0430,missense_variant,p.Asp395Asn,ENST00000551742,;KIAA0430,missense_variant,p.Asp392Asn,ENST00000602337,;KIAA0430,missense_variant,p.Asp395Asn,ENST00000540441,;KIAA0430,missense_variant,p.Asp217Asn,ENST00000344181,;KIAA0430,missense_variant,p.Asp392Asn,ENST00000548025,;KIAA0430,missense_variant,p.Asp395Asn,ENST00000396368,;KIAA0430,downstream_gene_variant,,ENST00000549219,;KIAA0430,missense_variant,p.Asp395Asn,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000548216,;	1390	84	72	SUCCESS
ALDOA	226	.	GRCh37	16	30080632	30080632	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	90	0	ENST00000338110.5:c.546C>T	p.Gly182=	p.G182=	ENST00000338110	NM_000034.3	182	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS58450.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCATTGT	NONE	.	.	hmmpanther:PTHR11627,Pfam_domain:PF00274,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	.	.	ENSP00000378669	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000395248	Transcript	.	.	ENSG00000149925	414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALDOA_HUMAN	ALDOA	HGNC	H3BUH7_HUMAN,H3BPS8_HUMAN,A4UCS9_HUMAN	.	UPI0000E59D76	SNV	ALDOA,synonymous_variant,p.%3D,ENST00000569545,;ALDOA,synonymous_variant,p.%3D,ENST00000412304,;ALDOA,synonymous_variant,p.%3D,ENST00000564595,;ALDOA,synonymous_variant,p.%3D,ENST00000562679,;ALDOA,synonymous_variant,p.%3D,ENST00000395240,;ALDOA,synonymous_variant,p.%3D,ENST00000395248,;ALDOA,synonymous_variant,p.%3D,ENST00000564546,;ALDOA,synonymous_variant,p.%3D,ENST00000569798,;ALDOA,synonymous_variant,p.%3D,ENST00000338110,;ALDOA,synonymous_variant,p.%3D,ENST00000566897,;ALDOA,synonymous_variant,p.%3D,ENST00000563060,;ALDOA,intron_variant,,ENST00000564688,;ALDOA,upstream_gene_variant,,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000566846,;ALDOA,downstream_gene_variant,,ENST00000563987,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,downstream_gene_variant,,ENST00000562168,;ALDOA,downstream_gene_variant,,ENST00000566012,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566130,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566146,;ALDOA,downstream_gene_variant,,ENST00000567555,;ALDOA,downstream_gene_variant,,ENST00000562302,;	1690	90	59	SUCCESS
SLC5A2	6524	.	GRCh37	16	31500328	31500328	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1451134374	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	34	0	ENST00000330498.3:c.1408G>A	p.Val470Ile	p.V470I	ENST00000330498	NM_003041.3	470	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10714.1	1408	MUTECT|MUSE	.	CCGCCGTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF95,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000327943	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000330498	Transcript	.	.	ENSG00000140675	11037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.18)	.	SC5A2_HUMAN	SLC5A2	HGNC	H3BP44_HUMAN	.	UPI000004D0A0	SNV	SLC5A2,missense_variant,p.Val470Ile,ENST00000330498,;C16orf58,downstream_gene_variant,,ENST00000430477,;SLC5A2,downstream_gene_variant,,ENST00000569576,;C16orf58,downstream_gene_variant,,ENST00000567994,;C16orf58,downstream_gene_variant,,ENST00000327237,;C16orf58,downstream_gene_variant,,ENST00000570164,;AC026471.6,upstream_gene_variant,,ENST00000565137,;SLC5A2,upstream_gene_variant,,ENST00000567051,;SLC5A2,upstream_gene_variant,,ENST00000564197,;SLC5A2,non_coding_transcript_exon_variant,,ENST00000568188,;SLC5A2,intron_variant,,ENST00000568891,;SLC5A2,intron_variant,,ENST00000419665,;C16orf58,downstream_gene_variant,,ENST00000568491,;SLC5A2,downstream_gene_variant,,ENST00000562006,;C16orf58,downstream_gene_variant,,ENST00000567578,;C16orf58,downstream_gene_variant,,ENST00000541442,;C16orf58,downstream_gene_variant,,ENST00000565128,;SLC5A2,downstream_gene_variant,,ENST00000565446,;C16orf58,downstream_gene_variant,,ENST00000567673,;	1427	34	34	SUCCESS
C16orf96	342346	.	GRCh37	16	4606653	4606653	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	61	0	ENST00000444310.4:c.163A>G	p.Thr55Ala	p.T55A	ENST00000444310	NM_001145011.1	55	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS53986.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGACCTCG	NONE	.	.	.	.	.	ENSP00000415027	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	tolerated(0.27)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Thr55Ala,ENST00000444310,;RP11-709D24.5,downstream_gene_variant,,ENST00000563704,;	163	61	42	SUCCESS
CHST5	23563	.	GRCh37	16	75565414	75565414	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	32	218	0	ENST00000336257.3:c.-1132C>T		p.*378*	ENST00000336257	NM_024533.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10919.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGAGCCC	NONE	.	.	.	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,5_prime_UTR_variant,,ENST00000336257,;CHST5,intron_variant,,ENST00000565039,;CHST5,intron_variant,,ENST00000541075,;RP11-77K12.7,intron_variant,,ENST00000460606,;	264	218	188	SUCCESS
ZNF469	84627	.	GRCh37	16	88502140	88502140	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	77	0	ENST00000437464.1:c.8178G>A	p.Gly2726=	p.G2726=	ENST00000437464	NM_001127464.1	2726	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45544.1	8178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGTTCTG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,synonymous_variant,p.%3D,ENST00000565624,;ZNF469,synonymous_variant,p.%3D,ENST00000437464,;	8178	77	63	SUCCESS
CDH15	1013	.	GRCh37	16	89258218	89258218	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1419856684	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	47	0	ENST00000289746.2:c.1531C>T	p.Pro511Ser	p.P511S	ENST00000289746	NM_004933.2	511	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10976.1	1531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCCCCCC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000289746	.	10/14	.	.	.	.	.	.	.	.	rs776446846	10/14	PASS	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	tolerated(0.31)	.	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	SNV	CDH15,missense_variant,p.Pro511Ser,ENST00000289746,;SLC22A31,downstream_gene_variant,,ENST00000562855,;SLC22A31,downstream_gene_variant,,ENST00000562916,;SLC22A31,downstream_gene_variant,,ENST00000563595,;	1596	47	43	SUCCESS
DRG2	1819	.	GRCh37	17	17991304	17991304	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	35	0	ENST00000225729.3:c.-34C>T		p.*12*	ENST00000225729	NM_001388.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11191.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCACCGC	NONE	.	.	.	.	.	ENSP00000225729	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000225729	Transcript	.	.	ENSG00000108591	3030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRG2_HUMAN	DRG2	HGNC	.	.	UPI000012987D	SNV	DRG2,5_prime_UTR_variant,,ENST00000580929,;DRG2,5_prime_UTR_variant,,ENST00000579601,;DRG2,5_prime_UTR_variant,,ENST00000225729,;DRG2,5_prime_UTR_variant,,ENST00000395726,;DRG2,upstream_gene_variant,,ENST00000583355,;DRG2,5_prime_UTR_variant,,ENST00000582419,;DRG2,5_prime_UTR_variant,,ENST00000577450,;DRG2,5_prime_UTR_variant,,ENST00000467099,;DRG2,5_prime_UTR_variant,,ENST00000496428,;DRG2,5_prime_UTR_variant,,ENST00000582314,;DRG2,5_prime_UTR_variant,,ENST00000580055,;DRG2,5_prime_UTR_variant,,ENST00000579224,;DRG2,non_coding_transcript_exon_variant,,ENST00000578173,;DRG2,non_coding_transcript_exon_variant,,ENST00000583162,;DRG2,non_coding_transcript_exon_variant,,ENST00000584212,;DRG2,non_coding_transcript_exon_variant,,ENST00000577771,;DRG2,non_coding_transcript_exon_variant,,ENST00000473213,;DRG2,non_coding_transcript_exon_variant,,ENST00000578767,;	105	35	32	SUCCESS
SMG6	23293	.	GRCh37	17	2200545	2200545	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752531928	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	81	0	ENST00000263073.6:c.2143C>T	p.Arg715Cys	p.R715C	ENST00000263073	NM_017575.4	715	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11016.1	2143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCGTAATG	NONE	byFrequency	.	hmmpanther:PTHR13548:SF1,hmmpanther:PTHR13548,Pfam_domain:PF10374,Superfamily_domains:SSF48452	.	.	ENSP00000263073	.	4/19	.	.	.	.	.	.	.	.	rs752531928	4/19	PASS	ENST00000263073	Transcript	.	.	ENSG00000070366	17809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	EST1A_HUMAN	SMG6	HGNC	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN	.	UPI00002005C8	SNV	SMG6,missense_variant,p.Arg684Cys,ENST00000544865,;SMG6,missense_variant,p.Arg715Cys,ENST00000263073,;	2194	81	70	SUCCESS
FAM101B	0	.	GRCh37	17	293163	293163	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs550861769	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	79	0	ENST00000329099.4:c.227G>A	p.Arg76His	p.R76H	ENST00000329099	NM_182705.2	76	cGc/cAc	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	.	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGCGCCAC	NONE	by1000G	.	hmmpanther:PTHR31848:SF2,hmmpanther:PTHR31848,Pfam_domain:PF15068	T:0	.	ENSP00000331915	T:0	2/2	.	.	.	.	.	.	.	.	rs550861769	2/2	PASS	ENST00000329099	Transcript	.	T:0.0002	ENSG00000183688	28705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	T:0.001	deleterious(0.05)	.	F101B_HUMAN	FAM101B	HGNC	.	.	UPI00001AF949	SNV	FAM101B,missense_variant,p.Arg76His,ENST00000329099,;	227	79	64	SUCCESS
SNX11	29916	.	GRCh37	17	46196421	46196421	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	77	0	ENST00000359238.2:c.412T>A	p.Cys138Ser	p.C138S	ENST00000359238	NM_013323.2	138	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS11526.1	412	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTGTGTC	NONE	.	.	hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF36	.	.	ENSP00000377059	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000393405	Transcript	.	.	ENSG00000002919	14975	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	SNX11_HUMAN	SNX11	HGNC	J3QRB9_HUMAN,J3QLV8_HUMAN,J3KTN6_HUMAN,B4DJI7_HUMAN	.	UPI000003E7DA	SNV	SNX11,missense_variant,p.Cys138Ser,ENST00000393405,;SNX11,missense_variant,p.Cys130Ser,ENST00000582104,;SNX11,missense_variant,p.Cys77Ser,ENST00000439357,;SNX11,missense_variant,p.Cys138Ser,ENST00000582481,;SNX11,missense_variant,p.Cys138Ser,ENST00000581298,;SNX11,missense_variant,p.Cys138Ser,ENST00000584335,;SNX11,missense_variant,p.Cys138Ser,ENST00000359238,;SNX11,missense_variant,p.Cys130Ser,ENST00000580219,;SNX11,5_prime_UTR_variant,,ENST00000452859,;SNX11,downstream_gene_variant,,ENST00000578861,;SNX11,3_prime_UTR_variant,,ENST00000581705,;SNX11,3_prime_UTR_variant,,ENST00000583320,;	766	77	51	SUCCESS
SUPT4H1	6827	.	GRCh37	17	56423671	56423671	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	46	0	ENST00000225504.3:c.290T>A	p.Ile97Asn	p.I97N	ENST00000225504	NM_003168.2	97	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS11606.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGATTCCT	NONE	.	.	hmmpanther:PTHR12882,hmmpanther:PTHR12882:SF0,PIRSF_domain:PIRSF025023	.	.	ENSP00000225504	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000225504	Transcript	.	.	ENSG00000213246	11467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.475)	.	deleterious(0)	.	SPT4H_HUMAN	SUPT4H1	HGNC	J3QR04_HUMAN,D3DTZ5_HUMAN	.	UPI0000021936	SNV	SUPT4H1,missense_variant,p.Ile56Asn,ENST00000577396,;SUPT4H1,missense_variant,p.Ile97Asn,ENST00000580947,;SUPT4H1,missense_variant,p.Ile88Asn,ENST00000581540,;SUPT4H1,missense_variant,p.Ile97Asn,ENST00000225504,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000580022,;BZRAP1-AS1,intron_variant,,ENST00000582348,;BZRAP1-AS1,intron_variant,,ENST00000578334,;BZRAP1-AS1,intron_variant,,ENST00000585236,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,intron_variant,,ENST00000583826,;BZRAP1-AS1,intron_variant,,ENST00000580515,;BZRAP1-AS1,intron_variant,,ENST00000580633,;BZRAP1-AS1,intron_variant,,ENST00000579527,;BZRAP1-AS1,intron_variant,,ENST00000579859,;BZRAP1-AS1,intron_variant,,ENST00000578025,;SUPT4H1,3_prime_UTR_variant,,ENST00000581166,;SUPT4H1,non_coding_transcript_exon_variant,,ENST00000581204,;SUPT4H1,downstream_gene_variant,,ENST00000579289,;	357	46	48	SUCCESS
AMZ2	51321	.	GRCh37	17	66252013	66252013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	47	0	ENST00000359904.3:c.923A>G	p.Tyr308Cys	p.Y308C	ENST00000359904	NM_016627.4	308	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11674.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATACAAAG	NONE	.	.	hmmpanther:PTHR32205:SF5,hmmpanther:PTHR32205	.	.	ENSP00000352976	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000359904	Transcript	.	.	ENSG00000196704	28041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.01)	.	AMZ2_HUMAN	AMZ2	HGNC	J3QLK6_HUMAN,J3KSH1_HUMAN,J3KS38_HUMAN,J3KRD0_HUMAN	.	UPI0000366C52	SNV	AMZ2,missense_variant,p.Tyr308Cys,ENST00000580753,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000359904,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000392720,;AMZ2,missense_variant,p.Tyr250Cys,ENST00000359783,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000577985,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000577866,;AMZ2,intron_variant,,ENST00000577273,;AMZ2,downstream_gene_variant,,ENST00000579724,;ARSG,upstream_gene_variant,,ENST00000448504,;AMZ2,downstream_gene_variant,,ENST00000584494,;AMZ2,downstream_gene_variant,,ENST00000580548,;AMZ2,downstream_gene_variant,,ENST00000584837,;AMZ2,downstream_gene_variant,,ENST00000580837,;AMZ2,intron_variant,,ENST00000585050,;AMZ2,intron_variant,,ENST00000581779,;ARSG,upstream_gene_variant,,ENST00000578726,;AMZ2,downstream_gene_variant,,ENST00000582430,;AMZ2,3_prime_UTR_variant,,ENST00000584350,;AMZ2,intron_variant,,ENST00000578175,;AMZ2,downstream_gene_variant,,ENST00000584836,;	2055	47	39	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79428710	79428710	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782091307	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	138	0	ENST00000307745.7:c.7021G>A	p.Asp2341Asn	p.D2341N	ENST00000307745		2341	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	7021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGACAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	30/32	.	.	.	.	.	.	.	.	rs782091307	30/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Asp2253Asn,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Asp2341Asn,ENST00000307745,;RP11-1055B8.8,non_coding_transcript_exon_variant,,ENST00000572590,;RP11-1055B8.7,downstream_gene_variant,,ENST00000576071,;RP11-1055B8.7,upstream_gene_variant,,ENST00000571612,;RP11-1055B8.7,downstream_gene_variant,,ENST00000576039,;	7021	138	120	SUCCESS
FASN	2194	.	GRCh37	17	80039092	80039092	+	synonymous_variant	Silent	SNP	T	T	C	rs1265273432	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	59	0	ENST00000306749.2:c.6543A>G	p.Gln2181=	p.Q2181=	ENST00000306749	NM_004104.4	2181	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS11801.1	6543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGTTGCCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00550,Gene3D:1.10.1200.10,SMART_domains:SM00823,Superfamily_domains:SSF47336	.	.	ENSP00000304592	.	38/43	.	.	.	.	.	.	.	.	.	38/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	6762	59	70	SUCCESS
FASN	2194	.	GRCh37	17	80050583	80050583	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	36	0	ENST00000306749.2:c.884C>T	p.Thr295Ile	p.T295I	ENST00000306749	NM_004104.4	295	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11801.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGTGCCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	7/43	.	.	.	.	.	.	.	.	.	7/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Thr295Ile,ENST00000306749,;	1103	36	23	SUCCESS
ZNF519	162655	.	GRCh37	18	14105460	14105460	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759020763	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	58	0	ENST00000590202.1:c.1079G>A	p.Gly360Glu	p.G360E	ENST00000590202	NM_145287.3	360	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS32797.1	1079	MUTECT|MUSE	.	ATGACCCCCTG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF97,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000464872	.	3/3	.	.	.	.	.	.	.	.	rs759020763	3/3	PASS	ENST00000590202	Transcript	.	.	ENSG00000175322	30574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated(0.22)	.	ZN519_HUMAN	ZNF519	HGNC	.	.	UPI0000201A41	SNV	ZNF519,missense_variant,p.Gly360Glu,ENST00000590202,;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,intron_variant,,ENST00000587419,;	1232	58	31	SUCCESS
ATP8B3	148229	.	GRCh37	19	1796715	1796715	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371318224	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	82	0	ENST00000310127.6:c.1748G>A	p.Arg583His	p.R583H	ENST00000310127	NM_138813.3	583	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS45901.1	1748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGCTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Superfamily_domains:SSF81660	.	T:0.0001	ENSP00000311336	.	16/29	.	.	.	.	.	.	.	.	rs371318224	16/29	PASS	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.05)	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,missense_variant,p.Arg583His,ENST00000310127,;ATP8B3,missense_variant,p.Arg583His,ENST00000539485,;ATP8B3,missense_variant,p.Arg536His,ENST00000525591,;ATP8B3,downstream_gene_variant,,ENST00000526092,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000533107,;	1987	82	80	SUCCESS
ZFP14	57677	.	GRCh37	19	36831783	36831783	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	74	0	ENST00000270001.7:c.945G>A	p.Lys315=	p.K315=	ENST00000270001	NM_020917.2	315	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS33002.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCTTACA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF253,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000270001	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000270001	Transcript	.	.	ENSG00000142065	29312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP14_HUMAN	ZFP14	HGNC	.	.	UPI000013AD55	SNV	ZFP14,synonymous_variant,p.%3D,ENST00000270001,;	1061	74	64	SUCCESS
PSG11	5680	.	GRCh37	19	43529163	43529163	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1058223	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	49	163	1	ENST00000320078.7:c.110T>C	p.Met37Thr	p.M37T	ENST00000320078	NM_002785.2	37	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS12614.2	110	RADIA|SOMATICSNIPER|VARSCANS	.	CAATCATGACT	NONE	byFrequency|suspect|byCluster	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF108	.	.	ENSP00000384995	.	2/6	.	.	.	.	.	.	.	.	rs1058223	2/6	PASS	ENST00000401740	Transcript	.	.	ENSG00000243130	9516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(1)	.	PSG11_HUMAN	PSG11	HGNC	.	.	UPI000004EE8C	SNV	PSG11,missense_variant,p.Met37Thr,ENST00000401740,;PSG11,missense_variant,p.Met37Thr,ENST00000598133,;PSG11,missense_variant,p.Met37Thr,ENST00000320078,;PSG11,intron_variant,,ENST00000306322,;PSG11,intron_variant,,ENST00000403486,;PSG11,start_lost,p.Met1?,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000595138,;PSG11,non_coding_transcript_exon_variant,,ENST00000594655,;PSG11,non_coding_transcript_exon_variant,,ENST00000599245,;PSG11,intron_variant,,ENST00000488205,;PSG11,upstream_gene_variant,,ENST00000597093,;	214	164	225	SUCCESS
BCL3	602	.	GRCh37	19	45260419	45260419	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763828094	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	39	0	ENST00000164227.5:c.665G>A	p.Arg222Gln	p.R222Q	ENST00000164227	NM_005178.4	222	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12642.2	665	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGAGCCC	NONE	byFrequency	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24118:SF44,hmmpanther:PTHR24118,PROSITE_profiles:PS50297	.	.	ENSP00000164227	.	4/9	.	.	.	.	.	.	.	.	rs763828094	4/9	PASS	ENST00000164227	Transcript	.	.	ENSG00000069399	998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.27)	.	BCL3_HUMAN	BCL3	HGNC	.	.	UPI0000D4AF29	SNV	BCL3,missense_variant,p.Arg222Gln,ENST00000164227,;BCL3,missense_variant,p.Arg106Gln,ENST00000444487,;BCL3,non_coding_transcript_exon_variant,,ENST00000473468,;BCL3,non_coding_transcript_exon_variant,,ENST00000464319,;BCL3,non_coding_transcript_exon_variant,,ENST00000403534,;BCL3,upstream_gene_variant,,ENST00000473473,;BCL3,upstream_gene_variant,,ENST00000474300,;BCL3,upstream_gene_variant,,ENST00000477832,;	909	39	46	SUCCESS
GRIN2D	2906	.	GRCh37	19	48945414	48945414	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	52	0	ENST00000263269.3:c.2448C>T	p.Ile816=	p.I816=	ENST00000263269	NM_000836.2	816	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12719.1	2448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCGAGAT	NONE	.	.	hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000263269	.	12/13	.	.	.	.	.	.	.	.	COSM281558	12/13	PASS	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,synonymous_variant,p.%3D,ENST00000263269,;GRWD1,upstream_gene_variant,,ENST00000253237,;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,;	2536	52	43	SUCCESS
MYBPC2	4606	.	GRCh37	19	50958840	50958840	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	56	0	ENST00000357701.5:c.2277T>C	p.Pro759=	p.P759=	ENST00000357701	NM_004533.3	759	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS46152.1	2277	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTCCGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014	.	.	ENSP00000350332	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000357701	Transcript	.	.	ENSG00000086967	7550	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,synonymous_variant,p.%3D,ENST00000357701,;	2328	56	51	SUCCESS
ADAMTS10	81794	.	GRCh37	19	8651245	8651245	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1389991838	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	35	109	0	ENST00000597188.1:c.2513C>G	p.Ser838Trp	p.S838W	ENST00000597188	NM_030957.2	838	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS12206.1	2513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGAGCAC	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723:SF26,hmmpanther:PTHR13723,PROSITE_profiles:PS50092	.	.	ENSP00000270328	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000270328	Transcript	1	.	ENSG00000142303	13201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ATS10_HUMAN	ADAMTS10	HGNC	.	.	UPI000013D883	SNV	ADAMTS10,missense_variant,p.Ser838Trp,ENST00000597188,;ADAMTS10,missense_variant,p.Ser838Trp,ENST00000270328,;ADAMTS10,missense_variant,p.Ser325Trp,ENST00000595838,;AC130469.2,downstream_gene_variant,,ENST00000597256,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;ADAMTS10,downstream_gene_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000593826,;	2780	109	128	SUCCESS
RBP7	116362	.	GRCh37	1	10068317	10068317	+	synonymous_variant	Silent	SNP	A	A	C	rs778318435	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	10	101	0	ENST00000294435.7:c.339A>C	p.Gly113=	p.G113=	ENST00000294435	NM_052960.2	113	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS109.1	339	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGACAA	NONE	.	.	Prints_domain:PR00178,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955:SF77,hmmpanther:PTHR11955	.	.	ENSP00000294435	.	3/4	.	.	.	.	.	.	.	.	rs778318435	3/4	PASS	ENST00000294435	Transcript	.	.	ENSG00000162444	30316	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RET7_HUMAN	RBP7	HGNC	.	.	UPI00001336D9	SNV	RBP7,synonymous_variant,p.%3D,ENST00000294435,;RBP7,3_prime_UTR_variant,,ENST00000315901,;	382	101	92	SUCCESS
COL11A1	1301	.	GRCh37	1	103444965	103444965	+	synonymous_variant	Silent	SNP	T	T	A	rs541933572	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	5	186	0	ENST00000370096.3:c.2583A>T	p.Pro861=	p.P861=	ENST00000370096	NM_001854.3	861	ccA/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS778.1	2583	MUTECT|MUSE	.	GCACCTGGAAA	NONE	by1000G	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	A:0	.	ENSP00000359114	A:0	32/67	.	.	.	.	.	.	.	.	rs541933572	32/67	PASS	ENST00000370096	Transcript	.	A:0.0002	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;	2896	186	158	SUCCESS
CAPZA1	829	.	GRCh37	1	113192072	113192072	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	124	0	ENST00000263168.3:c.136C>G	p.Leu46Val	p.L46V	ENST00000263168	NM_006135.2	46	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS30805.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCTCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF2,Pfam_domain:PF01267,Superfamily_domains:SSF90096	.	.	ENSP00000263168	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000263168	Transcript	.	.	ENSG00000116489	1488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	deleterious(0)	.	CAZA1_HUMAN	CAPZA1	HGNC	.	.	UPI00001270FA	SNV	CAPZA1,missense_variant,p.Leu46Val,ENST00000263168,;snoU13,upstream_gene_variant,,ENST00000459345,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000476936,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000498626,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000485542,;	808	124	98	SUCCESS
SDF4	51150	.	GRCh37	1	1152909	1152909	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778039481	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	56	0	ENST00000360001.6:c.1072G>A	p.Val358Met	p.V358M	ENST00000360001		358	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS30553.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACGCTGC	NONE	byFrequency	.	Gene3D:1.10.238.10,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF39	.	.	ENSP00000353094	.	7/7	.	.	.	.	.	.	.	.	rs778039481	7/7	PASS	ENST00000360001	Transcript	.	.	ENSG00000078808	24188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CAB45_HUMAN	SDF4	HGNC	.	.	UPI0000127156	SNV	SDF4,missense_variant,p.Val358Met,ENST00000360001,;SDF4,3_prime_UTR_variant,,ENST00000263741,;SDF4,downstream_gene_variant,,ENST00000403997,;TNFRSF4,upstream_gene_variant,,ENST00000379236,;SDF4,downstream_gene_variant,,ENST00000545427,;TNFRSF4,upstream_gene_variant,,ENST00000453580,;SDF4,3_prime_UTR_variant,,ENST00000465727,;SDF4,non_coding_transcript_exon_variant,,ENST00000494748,;SDF4,non_coding_transcript_exon_variant,,ENST00000478938,;TNFRSF4,upstream_gene_variant,,ENST00000497869,;	1335	56	70	SUCCESS
OTUD7B	56957	.	GRCh37	1	149915759	149915759	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	56	0	ENST00000369135.4:c.2529C>T	p.Phe843=	p.F843=	ENST00000369135	NM_020205.3	843	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS41389.1	2529	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGAACCT	NONE	.	.	.	.	.	ENSP00000358131	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369135	Transcript	.	.	ENSG00000163113	16683	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTU7B_HUMAN	OTUD7B	HGNC	Q5SZ59_HUMAN	.	UPI000020415D	SNV	OTUD7B,synonymous_variant,p.%3D,ENST00000369135,;OTUD7B,downstream_gene_variant,,ENST00000417191,;	2824	56	71	SUCCESS
CERS2	29956	.	GRCh37	1	150939260	150939260	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781122228	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	83	0	ENST00000271688.6:c.820A>G	p.Ile274Val	p.I274V	ENST00000271688	NM_181746.3	274	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS973.1	820	MUTECT|MUSE	.	GGTGATGATAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12560:SF7,hmmpanther:PTHR12560,Pfam_domain:PF03798,SMART_domains:SM00724,PIRSF_domain:PIRSF005225	.	.	ENSP00000271688	.	9/11	.	.	.	.	.	.	.	.	rs781122228	9/11	PASS	ENST00000271688	Transcript	.	.	ENSG00000143418	14076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.8)	.	CERS2_HUMAN	CERS2	HGNC	Q5SZE6_HUMAN,Q5SZE3_HUMAN,Q5SZE2_HUMAN,Q5SZE1_HUMAN,H0YKH6_HUMAN	.	UPI0000001237	SNV	CERS2,missense_variant,p.Ile265Val,ENST00000561294,;CERS2,missense_variant,p.Ile122Val,ENST00000560793,;CERS2,missense_variant,p.Ile274Val,ENST00000368954,;CERS2,missense_variant,p.Ile274Val,ENST00000368949,;CERS2,missense_variant,p.Ile274Val,ENST00000271688,;SETDB1,downstream_gene_variant,,ENST00000498193,;SETDB1,downstream_gene_variant,,ENST00000271640,;SETDB1,downstream_gene_variant,,ENST00000368969,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000457392,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000421609,;RP11-316M1.12,downstream_gene_variant,,ENST00000560481,;RP11-316M1.12,downstream_gene_variant,,ENST00000561111,;CERS2,non_coding_transcript_exon_variant,,ENST00000345896,;CERS2,non_coding_transcript_exon_variant,,ENST00000482825,;CERS2,non_coding_transcript_exon_variant,,ENST00000460664,;SETDB1,downstream_gene_variant,,ENST00000528749,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000533529,;SETDB1,downstream_gene_variant,,ENST00000497314,;CERS2,downstream_gene_variant,,ENST00000559660,;	1207	83	107	SUCCESS
SMG5	23381	.	GRCh37	1	156237933	156237933	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	11	157	0	ENST00000361813.5:c.881T>C	p.Leu294Pro	p.L294P	ENST00000361813	NM_015327.2	294	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1137.1	881	MUTECT|MUSE	.	TTTGCAGATAC	NONE	.	.	Superfamily_domains:SSF48452,Pfam_domain:PF10373,hmmpanther:PTHR15696:SF1,hmmpanther:PTHR15696	.	.	ENSP00000355261	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000361813	Transcript	.	.	ENSG00000198952	24644	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SMG5_HUMAN	SMG5	HGNC	.	.	UPI0000050C24	SNV	SMG5,missense_variant,p.Leu294Pro,ENST00000368267,;SMG5,missense_variant,p.Leu294Pro,ENST00000361813,;SMG5,upstream_gene_variant,,ENST00000489907,;	1026	157	145	SUCCESS
DUSP27	0	.	GRCh37	1	167095928	167095928	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	55	207	0	ENST00000361200.2:c.1560G>T	p.Glu520Asp	p.E520D	ENST00000361200		520	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS30932.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGGACAG	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	tolerated(0.05)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Glu520Asp,ENST00000361200,;DUSP27,missense_variant,p.Glu520Asp,ENST00000443333,;DUSP27,missense_variant,p.Glu520Asp,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1726	207	177	SUCCESS
PRDX6	9588	.	GRCh37	1	173446509	173446509	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	58	0	ENST00000340385.5:c.-28C>T		p.*10*	ENST00000340385	NM_004905.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1307.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCAGCG	NONE	.	.	.	.	.	ENSP00000342026	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000340385	Transcript	.	.	ENSG00000117592	16753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDX6_HUMAN	PRDX6	HGNC	.	.	UPI0000001C4B	SNV	PRDX6,5_prime_UTR_variant,,ENST00000340385,;PRDX6,non_coding_transcript_exon_variant,,ENST00000460950,;PRDX6,upstream_gene_variant,,ENST00000470017,;	105	58	63	SUCCESS
TNN	63923	.	GRCh37	1	175052888	175052888	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	41	0	ENST00000239462.4:c.1051C>G	p.Leu351Val	p.L351V	ENST00000239462	NM_022093.1	351	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS30943.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGACCTTGCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000239462	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.49)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Leu351Val,ENST00000239462,;	1164	41	44	SUCCESS
STX6	10228	.	GRCh37	1	180953892	180953892	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	58	0	ENST00000258301.5:c.612C>G	p.Phe204Leu	p.F204L	ENST00000258301	NM_005819.4	204	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1341.1	612	MUTECT|MUSE	.	TGAGAGAAATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50192,hmmpanther:PTHR12380:SF35,hmmpanther:PTHR12380,PROSITE_patterns:PS00914,Gene3D:1.20.5.110,Pfam_domain:PF05739,SMART_domains:SM00397,Superfamily_domains:SSF58038	.	.	ENSP00000258301	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000258301	Transcript	.	.	ENSG00000135823	11441	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	tolerated(0.1)	.	STX6_HUMAN	STX6	HGNC	B4DR17_HUMAN	.	UPI00000490D6	SNV	STX6,missense_variant,p.Phe204Leu,ENST00000258301,;STX6,missense_variant,p.Phe103Leu,ENST00000542060,;AL162431.1,downstream_gene_variant,,ENST00000457152,;STX6,non_coding_transcript_exon_variant,,ENST00000469135,;STX6,downstream_gene_variant,,ENST00000496476,;	850	58	44	SUCCESS
LAD1	3898	.	GRCh37	1	201351392	201351392	+	synonymous_variant	Silent	SNP	C	C	T	rs762162665	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	61	0	ENST00000391967.2:c.1536G>A	p.Ser512=	p.S512=	ENST00000391967	NM_005558.3	512	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1410.1	1536	MUTECT|MUSE	.	TCCAGCGAGGA	NONE	.	.	hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144	.	.	ENSP00000375829	.	9/10	.	.	.	.	.	.	.	.	rs762162665	9/10	PASS	ENST00000391967	Transcript	.	.	ENSG00000159166	6472	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAD1_HUMAN	LAD1	HGNC	.	.	UPI000006CD59	SNV	LAD1,synonymous_variant,p.%3D,ENST00000391967,;LAD1,synonymous_variant,p.%3D,ENST00000367313,;LAD1,synonymous_variant,p.%3D,ENST00000503578,;TNNT2,upstream_gene_variant,,ENST00000367318,;TNNT2,upstream_gene_variant,,ENST00000458432,;TNNT2,upstream_gene_variant,,ENST00000422165,;TNNT2,upstream_gene_variant,,ENST00000367322,;TNNT2,upstream_gene_variant,,ENST00000421663,;TNNT2,upstream_gene_variant,,ENST00000509001,;TNNT2,upstream_gene_variant,,ENST00000438742,;TNNT2,upstream_gene_variant,,ENST00000455702,;TNNT2,upstream_gene_variant,,ENST00000367320,;TNNT2,upstream_gene_variant,,ENST00000412633,;LAD1,downstream_gene_variant,,ENST00000488842,;LAD1,downstream_gene_variant,,ENST00000475136,;TNNT2,upstream_gene_variant,,ENST00000491504,;TNNT2,upstream_gene_variant,,ENST00000472177,;	1838	61	50	SUCCESS
ATP2B4	493	.	GRCh37	1	203678582	203678582	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	31	138	1	ENST00000357681.5:c.1711G>C	p.Val571Leu	p.V571L	ENST00000357681	NM_001684.4	571	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS1440.1	1711	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGTGCGC	NONE	.	.	hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000350310	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.253)	.	deleterious(0.05)	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Val571Leu,ENST00000341360,;ATP2B4,missense_variant,p.Val571Leu,ENST00000367218,;ATP2B4,missense_variant,p.Val571Leu,ENST00000391954,;ATP2B4,missense_variant,p.Val559Leu,ENST00000367219,;ATP2B4,missense_variant,p.Val571Leu,ENST00000357681,;	2834	139	225	SUCCESS
MIR4260	100422894	.	GRCh37	1	209796790	209796790	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs752499836	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	25	117	0	ENST00000583107.1:n.66A>G		p.*22*	ENST00000583107				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGTTGGTG	NONE	byFrequency	.	.	.	.	ENSP00000375778	.	.	.	.	.	.	.	.	.	.	rs752499836	.	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODIFIER	15/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,intron_variant,,ENST00000356082,;LAMB3,intron_variant,,ENST00000391911,;LAMB3,intron_variant,,ENST00000367030,;LAMB3,upstream_gene_variant,,ENST00000455193,;MIR4260,non_coding_transcript_exon_variant,,ENST00000583107,;	.	117	135	SUCCESS
RRP15	51018	.	GRCh37	1	218475635	218475635	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	17	154	0	ENST00000366932.3:c.140-1G>A		p.X47_splice	ENST00000366932	NM_016052.3	47		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1520.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTATAGGAAGC	NONE	.	.	.	.	.	ENSP00000355899	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366932	Transcript	.	.	ENSG00000067533	24255	.	.	HIGH	1/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RRP15_HUMAN	RRP15	HGNC	.	.	UPI0000205BC1	SNV	RRP15,splice_acceptor_variant,,ENST00000366932,;RRP15,splice_acceptor_variant,,ENST00000491428,;RP11-224O19.4,upstream_gene_variant,,ENST00000434965,;	.	154	174	SUCCESS
USP1	7398	.	GRCh37	1	62914231	62914231	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	17	186	0	ENST00000339950.4:c.1516T>C	p.Cys506Arg	p.C506R	ENST00000339950	NM_003368.4	506	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS621.1	1516	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTGTGAA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,Gene3D:1nbfA02,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378,PROSITE_profiles:PS50235	.	.	ENSP00000343526	.	8/9	.	.	.	.	.	.	.	.	COSM426551	8/9	PASS	ENST00000339950	Transcript	.	.	ENSG00000162607	12607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	UBP1_HUMAN	USP1	HGNC	C9JWX4_HUMAN,C9JC88_HUMAN	.	UPI00001379D4	SNV	USP1,missense_variant,p.Cys506Arg,ENST00000371146,;USP1,missense_variant,p.Cys506Arg,ENST00000339950,;	2331	186	143	SUCCESS
SIRPB2	284759	.	GRCh37	20	1456917	1456917	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	89	0	ENST00000359801.3:c.924A>G	p.Leu308=	p.L308=	ENST00000359801	NM_001122962.1	308	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42849.1	924	MUTECT|MUSE	.	GCCAGTAGGAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000352849	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359801	Transcript	.	.	ENSG00000196209	16247	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIRB2_HUMAN	SIRPB2	HGNC	.	.	UPI00001D8311	SNV	SIRPB2,synonymous_variant,p.%3D,ENST00000444444,;SIRPB2,synonymous_variant,p.%3D,ENST00000359801,;SIRPB2,downstream_gene_variant,,ENST00000537284,;NSFL1C,upstream_gene_variant,,ENST00000553571,;SIRPB2,downstream_gene_variant,,ENST00000608747,;SIRPB2,intron_variant,,ENST00000486775,;SIRPB2,intron_variant,,ENST00000481731,;SIRPB2,downstream_gene_variant,,ENST00000381630,;SIRPB2,downstream_gene_variant,,ENST00000609796,;SIRPB2,downstream_gene_variant,,ENST00000608073,;	961	89	56	SUCCESS
VPS16	64601	.	GRCh37	20	2842263	2842263	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	34	0	ENST00000380445.3:c.812G>T	p.Cys271Phe	p.C271F	ENST00000380445	NM_022575.2	271	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS13036.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGCAGCC	NONE	.	.	hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,missense_variant,p.Cys153Phe,ENST00000417508,;VPS16,missense_variant,p.Cys271Phe,ENST00000380469,;VPS16,missense_variant,p.Cys153Phe,ENST00000453689,;VPS16,missense_variant,p.Cys271Phe,ENST00000380445,;VPS16,upstream_gene_variant,,ENST00000380443,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,splice_region_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	884	34	22	SUCCESS
VPS16	64601	.	GRCh37	20	2842264	2842264	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	34	0	ENST00000380445.3:c.813C>T	p.Cys271=	p.C271=	ENST00000380445	NM_022575.2	271	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS13036.1	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCAGCCG	NONE	.	.	hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,synonymous_variant,p.%3D,ENST00000417508,;VPS16,synonymous_variant,p.%3D,ENST00000380469,;VPS16,synonymous_variant,p.%3D,ENST00000453689,;VPS16,synonymous_variant,p.%3D,ENST00000380445,;VPS16,upstream_gene_variant,,ENST00000380443,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,non_coding_transcript_exon_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	885	34	20	SUCCESS
VPS16	64601	.	GRCh37	20	2842265	2842265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	34	0	ENST00000380445.3:c.814A>T	p.Ser272Cys	p.S272C	ENST00000380445	NM_022575.2	272	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13036.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCAGCCGT	NONE	.	.	hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.14)	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,missense_variant,p.Ser154Cys,ENST00000417508,;VPS16,missense_variant,p.Ser272Cys,ENST00000380469,;VPS16,missense_variant,p.Ser154Cys,ENST00000453689,;VPS16,missense_variant,p.Ser272Cys,ENST00000380445,;VPS16,upstream_gene_variant,,ENST00000380443,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,non_coding_transcript_exon_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	886	34	24	SUCCESS
DSCAM	1826	.	GRCh37	21	41459179	41459179	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	75	0	ENST00000400454.1:c.3886A>T	p.Thr1296Ser	p.T1296S	ENST00000400454	NM_001271534.1	1296	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS42929.1	3886	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGTCACTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.51)	.	tolerated(0.06)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Thr1048Ser,ENST00000404019,;DSCAM,missense_variant,p.Thr1296Ser,ENST00000400454,;	4364	75	82	SUCCESS
DSCAM	1826	.	GRCh37	21	41684133	41684133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	33	128	0	ENST00000400454.1:c.1937A>G	p.Asp646Gly	p.D646G	ENST00000400454	NM_001271534.1	646	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS42929.1	1937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTCAATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	9/33	.	.	.	.	.	.	.	.	.	9/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	tolerated(0.05)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Asp398Gly,ENST00000404019,;DSCAM,missense_variant,p.Asp646Gly,ENST00000400454,;	2415	128	125	SUCCESS
KRTAP10-6	386674	.	GRCh37	21	46011616	46011616	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1387150118	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	78	0	ENST00000400368.1:c.750C>A	p.Cys250Ter	p.C250*	ENST00000400368	NM_198688.2	250	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS42959.1	750	MUTECT|MUSE	.	TGGCAGCATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18	.	.	ENSP00000383219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400368	Transcript	.	.	ENSG00000188155	20523	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR106_HUMAN	KRTAP10-6	HGNC	.	.	UPI0000E5A408	SNV	KRTAP10-6,stop_gained,p.Cys250Ter,ENST00000400368,;TSPEAR,intron_variant,,ENST00000323084,;	771	78	82	SUCCESS
SFI1	9814	.	GRCh37	22	32007130	32007130	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	84	0	ENST00000400288.2:c.2256C>T		p.X752_splice	ENST00000400288	NM_001007467.2	752	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43004.1	2256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGCTGTCT	NONE	.	.	hmmpanther:PTHR22028:SF2,hmmpanther:PTHR22028	.	.	ENSP00000383145	.	23/33	.	.	.	.	.	.	.	.	COSM1415852	23/33	PASS	ENST00000400288	Transcript	.	.	ENSG00000198089	29064	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SFI1_HUMAN	SFI1	HGNC	.	.	UPI00004703B1	SNV	SFI1,synonymous_variant,p.%3D,ENST00000400289,;SFI1,synonymous_variant,p.%3D,ENST00000414585,;SFI1,synonymous_variant,p.%3D,ENST00000443011,;SFI1,synonymous_variant,p.%3D,ENST00000417682,;SFI1,synonymous_variant,p.%3D,ENST00000400288,;SFI1,synonymous_variant,p.%3D,ENST00000432498,;SFI1,synonymous_variant,p.%3D,ENST00000540643,;SFI1,synonymous_variant,p.%3D,ENST00000443326,;SFI1,splice_region_variant,,ENST00000466991,;SFI1,upstream_gene_variant,,ENST00000474741,;SFI1,upstream_gene_variant,,ENST00000463436,;SFI1,missense_variant,p.Ala342Val,ENST00000452250,;SFI1,splice_region_variant,,ENST00000524296,;SFI1,splice_region_variant,,ENST00000491973,;SFI1,splice_region_variant,,ENST00000382162,;SFI1,upstream_gene_variant,,ENST00000495107,;SFI1,upstream_gene_variant,,ENST00000357852,;SFI1,downstream_gene_variant,,ENST00000488883,;SFI1,upstream_gene_variant,,ENST00000476577,;SFI1,upstream_gene_variant,,ENST00000464333,;	2361	84	60	SUCCESS
GRAP2	9402	.	GRCh37	22	40366916	40366916	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774420692	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	43	0	ENST00000344138.4:c.821G>A	p.Arg274Gln	p.R274Q	ENST00000344138	NM_004810.2	274	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13999.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCGGTGGG	NONE	byFrequency	.	Prints_domain:PR00452,Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF28,PROSITE_profiles:PS50002	.	.	ENSP00000339186	.	8/8	.	.	.	.	.	.	.	.	rs774420692	8/8	PASS	ENST00000344138	Transcript	.	.	ENSG00000100351	4563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.318)	.	tolerated(0.35)	.	GRAP2_HUMAN	GRAP2	HGNC	Q6FI14_HUMAN,B7Z8E3_HUMAN,B1AH86_HUMAN	.	UPI000012BB02	SNV	GRAP2,missense_variant,p.Arg234Gln,ENST00000543252,;GRAP2,missense_variant,p.Arg274Gln,ENST00000407075,;GRAP2,missense_variant,p.Arg161Gln,ENST00000399090,;GRAP2,missense_variant,p.Arg274Gln,ENST00000344138,;GRAP2,missense_variant,p.Arg202Gln,ENST00000544756,;GRAP2,missense_variant,p.Arg208Gln,ENST00000540310,;GRAP2,downstream_gene_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000460449,;GRAP2,downstream_gene_variant,,ENST00000481263,;	1084	43	35	SUCCESS
RIF1	55183	.	GRCh37	2	152293757	152293757	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	43	192	0	ENST00000243326.5:c.1375C>T	p.Pro459Ser	p.P459S	ENST00000243326		459	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2194.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCATTG	NONE	.	.	hmmpanther:PTHR22928	.	.	ENSP00000243326	.	12/35	.	.	.	.	.	.	.	.	.	12/35	PASS	ENST00000243326	Transcript	.	.	ENSG00000080345	23207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	deleterious(0)	.	RIF1_HUMAN	RIF1	HGNC	C9J1D6_HUMAN,B4DRJ4_HUMAN	.	UPI000023729F	SNV	RIF1,missense_variant,p.Pro451Ser,ENST00000414861,;RIF1,missense_variant,p.Pro459Ser,ENST00000444746,;RIF1,missense_variant,p.Pro459Ser,ENST00000453091,;RIF1,missense_variant,p.Pro459Ser,ENST00000428287,;RIF1,missense_variant,p.Pro459Ser,ENST00000243326,;RIF1,missense_variant,p.Pro459Ser,ENST00000430328,;RIF1,splice_region_variant,,ENST00000433166,;	1858	192	176	SUCCESS
NBAS	51594	.	GRCh37	2	15492192	15492192	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	77	1	ENST00000281513.5:c.4103G>A	p.Arg1368Lys	p.R1368K	ENST00000281513	NM_015909.3	1368	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS1685.1	4103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCTTTGA	NONE	.	.	Pfam_domain:PF08314,hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	35/52	.	.	.	.	.	.	.	.	.	35/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Arg1248Lys,ENST00000441750,;NBAS,missense_variant,p.Arg1368Lys,ENST00000281513,;NBAS,missense_variant,p.Arg416Lys,ENST00000442506,;	4129	78	58	SUCCESS
PXDN	7837	.	GRCh37	2	1653324	1653324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758592134	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	6	110	1	ENST00000252804.4:c.2228C>T	p.Thr743Met	p.T743M	ENST00000252804	NM_012293.1	743	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS46221.1	2228	MUTECT|MUSE	.	CGTGCGTCCGG	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000252804	.	17/23	.	.	.	.	.	.	.	.	rs758592134	17/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Thr743Met,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;	2279	111	83	SUCCESS
ZNF385B	151126	.	GRCh37	2	180348008	180348008	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	50	198	0	ENST00000410066.1:c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000410066	NM_152520.4	221	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33339.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTCAGAGT	NONE	.	.	hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067	.	.	ENSP00000386845	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	deleterious(0)	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,missense_variant,p.Asp119Tyr,ENST00000409692,;ZNF385B,missense_variant,p.Asp145Tyr,ENST00000409343,;ZNF385B,missense_variant,p.Asp221Tyr,ENST00000410066,;ZNF385B,missense_variant,p.Asp119Tyr,ENST00000336917,;ZNF385B,missense_variant,p.Asp119Tyr,ENST00000457304,;ZNF385B,downstream_gene_variant,,ENST00000439340,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000495289,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000475539,;ZNF385B,intron_variant,,ENST00000469551,;	1265	198	181	SUCCESS
SLC39A10	57181	.	GRCh37	2	196599744	196599744	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	15	196	0	ENST00000359634.5:c.2475T>G	p.Ile825Met	p.I825M	ENST00000359634	NM_020342.2	825	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS33353.1	2475	MUTECT|MUSE|VARSCANS	.	AAAATTGTGTT	NONE	.	.	hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191	.	.	ENSP00000386766	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Ile375Met,ENST00000541054,;SLC39A10,missense_variant,p.Ile825Met,ENST00000409086,;SLC39A10,missense_variant,p.Ile825Met,ENST00000359634,;DNAH7,downstream_gene_variant,,ENST00000409063,;DNAH7,downstream_gene_variant,,ENST00000438565,;DNAH7,downstream_gene_variant,,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000484183,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;	2750	196	170	SUCCESS
STK17B	9262	.	GRCh37	2	197008292	197008292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	9	159	0	ENST00000263955.4:c.599A>G	p.Glu200Gly	p.E200G	ENST00000263955	NM_004226.3	200	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2315.1	599	MUTECT|MUSE|VARSCANS	.	AATATTCTGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF5,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263955	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000263955	Transcript	.	.	ENSG00000081320	11396	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ST17B_HUMAN	STK17B	HGNC	U3KQF8_HUMAN,Q53QE7_HUMAN,C9JZJ1_HUMAN	.	UPI0000035B5D	SNV	STK17B,missense_variant,p.Glu200Gly,ENST00000263955,;STK17B,missense_variant,p.Glu200Gly,ENST00000409228,;	886	159	110	SUCCESS
FN1	2335	.	GRCh37	2	216226796	216226796	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759273898	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	36	0	ENST00000359671.1:c.6985C>T	p.Arg2329Cys	p.R2329C	ENST00000359671		2329	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42814.1	7258	MUTECT|MUSE	.	ACAGCGCCAGC	NONE	.	.	PROSITE_profiles:PS51091,PROSITE_patterns:PS01253,Pfam_domain:PF00039,Gene3D:2.10.70.10,SMART_domains:SM00058,Superfamily_domains:SSF57603	.	.	ENSP00000346839	.	45/46	.	.	.	.	.	.	.	.	rs759273898,COSM4091092,COSM4091091	45/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.91)	.	deleterious(0)	0,1,1	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Arg2210Cys,ENST00000432072,;FN1,missense_variant,p.Arg2208Cys,ENST00000443816,;FN1,missense_variant,p.Arg2127Cys,ENST00000345488,;FN1,missense_variant,p.Arg2420Cys,ENST00000354785,;FN1,missense_variant,p.Arg2329Cys,ENST00000359671,;FN1,missense_variant,p.Arg2273Cys,ENST00000446046,;FN1,missense_variant,p.Arg2119Cys,ENST00000357867,;FN1,missense_variant,p.Arg2183Cys,ENST00000421182,;FN1,missense_variant,p.Arg2154Cys,ENST00000346544,;FN1,missense_variant,p.Arg2298Cys,ENST00000336916,;FN1,missense_variant,p.Arg1046Cys,ENST00000456923,;FN1,missense_variant,p.Arg2389Cys,ENST00000323926,;FN1,missense_variant,p.Arg2239Cys,ENST00000356005,;FN1,3_prime_UTR_variant,,ENST00000357009,;FN1,non_coding_transcript_exon_variant,,ENST00000494446,;FN1,non_coding_transcript_exon_variant,,ENST00000498719,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,downstream_gene_variant,,ENST00000469569,;FN1,downstream_gene_variant,,ENST00000473614,;	7628	36	45	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218924535	218924535	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	48	0	ENST00000439871.1:n.1846G>T		p.*616*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CCCTGCTTTCA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	1846	48	43	SUCCESS
SERPINE2	5270	.	GRCh37	2	224866553	224866553	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749069197	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	61	0	ENST00000258405.4:c.65T>C	p.Phe22Ser	p.F22S	ENST00000258405	NM_001136528.1	22	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS46525.1	101	RADIA|MUTECT|MUSE|VARSCANS	.	GATTGAAGTGG	NONE	byFrequency	.	hmmpanther:PTHR11461:SF48,hmmpanther:PTHR11461	.	.	ENSP00000415786	.	2/9	.	.	.	.	.	.	.	.	rs749069197	2/9	PASS	ENST00000447280	Transcript	.	.	ENSG00000135919	8951	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	tolerated(0.22)	.	GDN_HUMAN	SERPINE2	HGNC	C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN,B4DMR3_HUMAN	.	UPI00017A7317	SNV	SERPINE2,missense_variant,p.Phe22Ser,ENST00000432738,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000423446,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000409304,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000454956,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000409840,;SERPINE2,missense_variant,p.Phe34Ser,ENST00000447280,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000258405,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000489065,;	402	61	47	SUCCESS
ARMC9	80210	.	GRCh37	2	232079712	232079712	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	30	114	0	ENST00000349938.4:c.346C>T	p.Pro116Ser	p.P116S	ENST00000349938	NM_025139.4	116	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2484.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACCGGTG	NONE	.	.	hmmpanther:PTHR14881,Gene3D:1.25.10.10	.	.	ENSP00000258417	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000349938	Transcript	.	.	ENSG00000135931	20730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.24)	.	ARMC9_HUMAN	ARMC9	HGNC	C9JW07_HUMAN	.	UPI00001AE7AC	SNV	ARMC9,missense_variant,p.Pro116Ser,ENST00000349938,;ARMC9,missense_variant,p.Pro116Ser,ENST00000440107,;ARMC9,splice_region_variant,,ENST00000483477,;ARMC9,non_coding_transcript_exon_variant,,ENST00000469789,;ARMC9,non_coding_transcript_exon_variant,,ENST00000482392,;	540	114	116	SUCCESS
RAB1A	5861	.	GRCh37	2	65331882	65331882	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	424	143	672	1	ENST00000409784.3:c.82C>A	p.Leu28Ile	p.L28I	ENST00000409784	NM_004161.4	28	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS46306.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGAAGGC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF419,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000387286	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000409784	Transcript	.	.	ENSG00000138069	9758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.02)	.	RAB1A_HUMAN	RAB1A	HGNC	Q96RD8_HUMAN,Q5U0I6_HUMAN	.	UPI0000001259	SNV	RAB1A,missense_variant,p.Leu28Ile,ENST00000260638,;RAB1A,missense_variant,p.Leu28Ile,ENST00000409892,;RAB1A,missense_variant,p.Leu28Ile,ENST00000398529,;RAB1A,missense_variant,p.Leu28Ile,ENST00000356214,;RAB1A,missense_variant,p.Leu28Ile,ENST00000409784,;RAB1A,missense_variant,p.Leu28Ile,ENST00000409751,;RAB1A,non_coding_transcript_exon_variant,,ENST00000494188,;	273	673	567	SUCCESS
LRRTM1	347730	.	GRCh37	2	80529902	80529902	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	92	0	ENST00000295057.3:c.1043C>A	p.Ala348Glu	p.A348E	ENST00000295057	NM_178839.4	348	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS1966.1	1043	MUTECT|MUSE	.	CCTGTGCGTAC	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Gene3D:3.80.10.10	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	COSM3933695,COSM3933694	2/2	PASS	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.601)	.	tolerated(0.05)	1,1	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,missense_variant,p.Ala348Glu,ENST00000295057,;LRRTM1,missense_variant,p.Ala348Glu,ENST00000409148,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;LRRTM1,downstream_gene_variant,,ENST00000415098,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000416268,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Ala348Glu,ENST00000417012,;LRRTM1,missense_variant,p.Ala348Glu,ENST00000433224,;	1700	92	69	SUCCESS
TMEM131	23505	.	GRCh37	2	98382611	98382611	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs538254823	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	7	214	0	ENST00000186436.5:c.4689G>C	p.Glu1563Asp	p.E1563D	ENST00000186436	NM_015348.1	1563	gaG/gaC	0	.	T:0	.	T:0	.	G	E/D	protein_coding	YES	CCDS46368.1	4689	MUTECT|MUSE	.	TCCCACTCCGG	NONE	by1000G	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1	T:0	.	ENSP00000186436	T:0	35/41	.	.	.	.	.	.	.	.	rs538254823	35/41	PASS	ENST00000186436	Transcript	.	T:0.0002	ENSG00000075568	30366	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.675)	T:0.001	deleterious_low_confidence(0)	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,missense_variant,p.Glu1563Asp,ENST00000186436,;TMEM131,upstream_gene_variant,,ENST00000465767,;TMEM131,upstream_gene_variant,,ENST00000485245,;	4918	214	158	SUCCESS
SEC13	6396	.	GRCh37	3	10347279	10347279	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	83	0	ENST00000350697.3:c.548C>T	p.Ala183Val	p.A183V	ENST00000350697	NM_183352.2	183	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2599.1	548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGCAAAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR11024,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000312122	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000350697	Transcript	.	.	ENSG00000157020	10697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(1)	.	SEC13_HUMAN	SEC13	HGNC	A4UCS7_HUMAN	.	UPI0000072378	SNV	SEC13,missense_variant,p.Ala169Val,ENST00000397117,;SEC13,missense_variant,p.Ala186Val,ENST00000337354,;SEC13,missense_variant,p.Ala183Val,ENST00000350697,;SEC13,missense_variant,p.Ala169Val,ENST00000397109,;SEC13,missense_variant,p.Ala229Val,ENST00000383801,;SEC13,upstream_gene_variant,,ENST00000492602,;SEC13,non_coding_transcript_exon_variant,,ENST00000476597,;SEC13,non_coding_transcript_exon_variant,,ENST00000490283,;SEC13,non_coding_transcript_exon_variant,,ENST00000479868,;SEC13,non_coding_transcript_exon_variant,,ENST00000477547,;	674	83	103	SUCCESS
ATP6V1A	523	.	GRCh37	3	113513944	113513952	+	inframe_deletion	In_Frame_Del	DEL	ATATCCAGC	ATATCCAGC	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	ATATCCAGC	ATATCCAGC	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	106	0	ENST00000273398.3:c.1119_1127del	p.Pro375_Tyr377del	p.P375_Y377del	ENST00000273398	NM_001690.3	373	ggATATCCAGCc/ggc	0	.	.	.	.	.	-	GYPA/G	protein_coding	YES	CCDS2976.1	1119-1127	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGTGGATATCCAGCCTATC	NONE	.	.	HAMAP:MF_00309,hmmpanther:PTHR15184:SF7,hmmpanther:PTHR15184,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01042,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000273398	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000273398	Transcript	.	.	ENSG00000114573	851	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VATA_HUMAN	ATP6V1A	HGNC	C9JVW8_HUMAN,C9JA17_HUMAN,B7Z2V6_HUMAN,B7Z1R5_HUMAN	.	UPI000013809A	deletion	ATP6V1A,inframe_deletion,p.Pro375_Tyr377del,ENST00000273398,;ATP6V1A,inframe_deletion,p.Pro342_Tyr344del,ENST00000538620,;ATP6V1A,3_prime_UTR_variant,,ENST00000470455,;	1227-1235	106	101	SUCCESS
DNAJC13	23317	.	GRCh37	3	132175649	132175649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	39	186	0	ENST00000260818.6:c.1322G>T	p.Gly441Val	p.G441V	ENST00000260818	NM_015268.3	441	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33857.1	1322	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGTTTCC	NONE	.	.	Superfamily_domains:SSF48371	.	.	ENSP00000260818	.	12/56	.	.	.	.	.	.	.	.	.	12/56	PASS	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,missense_variant,p.Gly441Val,ENST00000260818,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000471925,;	1570	186	211	SUCCESS
MFN1	55669	.	GRCh37	3	179096495	179096495	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	26	247	0	ENST00000471841.1:c.1555G>A	p.Asp519Asn	p.D519N	ENST00000471841	NM_033540.2	519	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS3228.1	1555	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGATATT	NONE	.	.	hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF2	.	.	ENSP00000420617	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000471841	Transcript	.	.	ENSG00000171109	18262	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.2)	.	MFN1_HUMAN	MFN1	HGNC	C9JXQ1_HUMAN,C9JQT7_HUMAN	.	UPI000013D495	SNV	MFN1,missense_variant,p.Asp519Asn,ENST00000263969,;MFN1,missense_variant,p.Asp519Asn,ENST00000471841,;MFN1,intron_variant,,ENST00000474903,;MFN1,intron_variant,,ENST00000280653,;MFN1,3_prime_UTR_variant,,ENST00000357390,;MFN1,non_coding_transcript_exon_variant,,ENST00000482661,;MFN1,non_coding_transcript_exon_variant,,ENST00000480636,;MFN1,downstream_gene_variant,,ENST00000466287,;	1681	247	189	SUCCESS
KCNH8	131096	.	GRCh37	3	19574931	19574931	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774465243	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	6	75	0	ENST00000328405.2:c.2664G>A	p.Met888Ile	p.M888I	ENST00000328405	NM_144633.2	888	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2632.1	2664	MUTECT|MUSE	.	GACATGAGAAA	NONE	byFrequency	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000328813	.	16/16	.	.	.	.	.	.	.	.	rs774465243,COSM336725	16/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.018)	.	deleterious(0.04)	0,1	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,missense_variant,p.Met888Ile,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	2930	75	95	SUCCESS
MFI2	0	.	GRCh37	3	196744154	196744154	+	synonymous_variant	Silent	SNP	C	C	T	rs375237562	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	115	0	ENST00000296350.5:c.720G>A	p.Thr240=	p.T240=	ENST00000296350	NM_005929.5	240	acG/acA	0	T:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS3325.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCGTCTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF5,Pfam_domain:PF00405,Gene3D:3.40.190.10,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,Superfamily_domains:SSF53850	.	T:0	ENSP00000296350	.	7/16	.	.	.	.	.	.	.	.	rs375237562	7/16	PASS	ENST00000296350	Transcript	.	.	ENSG00000163975	7037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRFM_HUMAN	MFI2	HGNC	.	.	UPI000013E329	SNV	MFI2,synonymous_variant,p.%3D,ENST00000296350,;MFI2,downstream_gene_variant,,ENST00000296351,;MFI2,downstream_gene_variant,,ENST00000489445,;	834	115	94	SUCCESS
CLEC3B	7123	.	GRCh37	3	45077344	45077344	+	synonymous_variant	Silent	SNP	G	G	A	rs1048000919	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	71	0	ENST00000296130.4:c.537G>A	p.Ala179=	p.A179=	ENST00000296130	NM_003278.2	179	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2726.1	537	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGGCCAA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF3,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000296130	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,synonymous_variant,p.%3D,ENST00000296130,;CLEC3B,synonymous_variant,p.%3D,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	717	71	79	SUCCESS
USP4	7375	.	GRCh37	3	49316327	49316327	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	7	109	0	ENST00000265560.4:c.2653T>C	p.Tyr885His	p.Y885H	ENST00000265560	NM_003363.3	885	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS2793.1	2653	MUTECT|MUSE	.	CGCATATGCAG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000265560	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000265560	Transcript	.	.	ENSG00000114316	12627	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.584)	.	deleterious(0.01)	.	UBP4_HUMAN	USP4	HGNC	.	.	UPI000013D63C	SNV	USP4,missense_variant,p.Tyr838His,ENST00000351842,;USP4,missense_variant,p.Tyr885His,ENST00000265560,;USP4,intron_variant,,ENST00000431357,;C3orf62,upstream_gene_variant,,ENST00000436325,;C3orf62,upstream_gene_variant,,ENST00000343010,;MIR4271,downstream_gene_variant,,ENST00000582451,;USP4,non_coding_transcript_exon_variant,,ENST00000483212,;USP4,non_coding_transcript_exon_variant,,ENST00000485450,;C3orf62,upstream_gene_variant,,ENST00000424960,;C3orf62,upstream_gene_variant,,ENST00000479673,;	2700	109	99	SUCCESS
HTR1F	3355	.	GRCh37	3	88040336	88040336	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	76	0	ENST00000319595.4:c.437T>A	p.Ile146Lys	p.I146K	ENST00000319595	NM_000866.3	146	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS2920.1	437	MUTECT|MUSE	.	TACAATAGTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF34,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	deleterious(0.01)	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,missense_variant,p.Ile146Lys,ENST00000319595,;	491	76	71	SUCCESS
PROS1	5627	.	GRCh37	3	93611955	93611955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	275	75	373	2	ENST00000394236.3:c.977A>G	p.Glu326Gly	p.E326G	ENST00000394236	NM_000313.3	326	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2923.1	977	RADIA|SOMATICSNIPER|VARSCANS	.	CAAATTCTGCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24040,hmmpanther:PTHR24040:SF0,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000377783	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000394236	Transcript	.	.	ENSG00000184500	9456	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.603)	.	deleterious(0)	.	PROS_HUMAN	PROS1	HGNC	Q8IXD5_HUMAN,Q8IXD4_HUMAN,Q8IXD2_HUMAN,Q6J1N0_HUMAN,Q06F35_HUMAN,G5E9F8_HUMAN,C9K0R0_HUMAN,B4E1L6_HUMAN	.	UPI00001323E8	SNV	PROS1,missense_variant,p.Glu326Gly,ENST00000394236,;PROS1,missense_variant,p.Glu195Gly,ENST00000407433,;	1294	375	350	SUCCESS
EPHA6	285220	.	GRCh37	3	97367321	97367321	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	25	0	ENST00000389672.5:c.2784+10395T>A		p.*928*	ENST00000389672	NM_001080448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46876.1	.	MUTECT|MUSE	.	CTAATTTAGGT	NONE	.	.	.	.	.	ENSP00000374323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODIFIER	14/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,3_prime_UTR_variant,,ENST00000502694,;EPHA6,3_prime_UTR_variant,,ENST00000514100,;EPHA6,intron_variant,,ENST00000389672,;EPHA6,intron_variant,,ENST00000477384,;	.	25	23	SUCCESS
RNF212	285498	.	GRCh37	4	1107222	1107222	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	99	0	ENST00000433731.2:c.31T>A	p.Phe11Ile	p.F11I	ENST00000433731		11	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS46996.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAGCAGC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR22663,hmmpanther:PTHR22663:SF21,Gene3D:3.30.40.10,Pfam_domain:PF14634	.	.	ENSP00000389709	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000433731	Transcript	1	.	ENSG00000178222	27729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.03)	.	RN212_HUMAN	RNF212	HGNC	.	.	UPI00005764E4	SNV	RNF212,missense_variant,p.Phe11Ile,ENST00000433731,;RNF212,missense_variant,p.Phe11Ile,ENST00000382968,;RNF212,missense_variant,p.Phe11Ile,ENST00000333673,;RP11-20I20.2,upstream_gene_variant,,ENST00000504969,;RNF212,non_coding_transcript_exon_variant,,ENST00000505730,;TMED11P,downstream_gene_variant,,ENST00000491822,;TMED11P,downstream_gene_variant,,ENST00000502630,;RNF212,missense_variant,p.Phe11Ile,ENST00000508428,;RNF212,missense_variant,p.Phe11Ile,ENST00000511620,;RNF212,missense_variant,p.Phe11Ile,ENST00000510715,;RNF212,missense_variant,p.Phe11Ile,ENST00000506730,;RNF212,non_coding_transcript_exon_variant,,ENST00000454487,;TMED11P,downstream_gene_variant,,ENST00000479478,;	93	99	91	SUCCESS
CFI	3426	.	GRCh37	4	110723189	110723189	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	170	0	ENST00000394634.2:c.-62A>G		p.*21*	ENST00000394634	NM_000204.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34049.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTGAAAT	NONE	.	.	.	.	.	ENSP00000378130	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,5_prime_UTR_variant,,ENST00000394634,;CFI,5_prime_UTR_variant,,ENST00000394635,;CFI,upstream_gene_variant,,ENST00000510800,;CFI,upstream_gene_variant,,ENST00000512148,;	147	170	127	SUCCESS
ANK2	287	.	GRCh37	4	114279036	114279036	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	75	0	ENST00000357077.4:c.9262C>G	p.Pro3088Ala	p.P3088A	ENST00000357077	NM_001148.4	3088	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS3702.1	9262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCCAACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Pro3055Ala,ENST00000264366,;ANK2,missense_variant,p.Pro3088Ala,ENST00000357077,;ANK2,missense_variant,p.Pro98Ala,ENST00000505342,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;	9315	75	50	SUCCESS
CLGN	1047	.	GRCh37	4	141313515	141313531	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGTATCTTTATGTTTTT	TGTATCTTTATGTTTTT	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	TGTATCTTTATGTTTTT	TGTATCTTTATGTTTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	115	0	ENST00000325617.5:c.1493_1509del	p.Lys498ArgfsTer3	p.K498Rfs*3	ENST00000325617	NM_004362.2	498	aAAAAACATAAAGATACA/a	0	.	.	.	.	.	-	KKHKDT/X	protein_coding	YES	CCDS3751.1	1493-1509	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACTCTGTATCTTTATGTTTTTTCTGT	NONE	.	.	hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000326699	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	deletion	CLGN,frameshift_variant,p.Lys498ArgfsTer3,ENST00000414773,;CLGN,frameshift_variant,p.Lys498ArgfsTer3,ENST00000325617,;CLGN,frameshift_variant,p.Lys498ArgfsTer3,ENST00000537281,;	1934-1950	115	85	SUCCESS
OTUD4	54726	.	GRCh37	4	146076604	146076604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs555763808	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	349	11	489	0	ENST00000447906.2:c.832A>G	p.Ile278Val	p.I278V	ENST00000447906		278	Att/Gtt	0	.	C:0	.	C:0	.	C	I/V	protein_coding	YES	CCDS47139.1	637	MUTECT|MUSE	.	AGCAATGGAAT	NONE	by1000G	.	hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF9	C:0	.	ENSP00000409279	C:0	10/21	.	.	.	.	.	.	.	.	rs555763808	10/21	PASS	ENST00000454497	Transcript	.	C:0.0002	ENSG00000164164	24949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.96)	C:0.001	tolerated(0.11)	.	OTUD4_HUMAN	OTUD4	HGNC	D6RA27_HUMAN	.	UPI0000DA6D4D	SNV	OTUD4,missense_variant,p.Ile212Val,ENST00000514973,;OTUD4,missense_variant,p.Ile278Val,ENST00000447906,;OTUD4,missense_variant,p.Ile213Val,ENST00000454497,;OTUD4,downstream_gene_variant,,ENST00000504501,;OTUD4,downstream_gene_variant,,ENST00000296579,;OTUD4,downstream_gene_variant,,ENST00000509620,;OTUD4,non_coding_transcript_exon_variant,,ENST00000455611,;OTUD4,downstream_gene_variant,,ENST00000505976,;OTUD4,downstream_gene_variant,,ENST00000509985,;OTUD4,upstream_gene_variant,,ENST00000509517,;	775	489	360	SUCCESS
PRIMPOL	201973	.	GRCh37	4	185606652	185606652	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	rs752395554	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	72	318	0	ENST00000314970.6:c.1186G>T	p.Gly396Ter	p.G396*	ENST00000314970	NM_152683.2	396	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS3837.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGGTAAA	BUFFER|p.K394N|c.1182A>T|3	.	.	hmmpanther:PTHR31399,hmmpanther:PTHR31399:SF0	.	.	ENSP00000313816	.	10/14	.	.	.	.	.	.	.	.	rs752395554	10/14	PASS	ENST00000314970	Transcript	1	.	ENSG00000164306	26575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC111_HUMAN	PRIMPOL	HGNC	D6RAH5_HUMAN,D6R971_HUMAN	.	UPI000013E37F	SNV	PRIMPOL,stop_gained,p.Gly70Ter,ENST00000508001,;PRIMPOL,stop_gained,p.Gly267Ter,ENST00000515774,;PRIMPOL,stop_gained,p.Gly396Ter,ENST00000314970,;PRIMPOL,stop_gained,p.Gly395Ter,ENST00000512834,;PRIMPOL,stop_gained,p.Gly396Ter,ENST00000503752,;PRIMPOL,splice_region_variant,,ENST00000509002,;	1619	318	226	SUCCESS
POLR2B	5431	.	GRCh37	4	57889912	57889912	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	16	184	0	ENST00000314595.5:c.2851C>T	p.Gln951Ter	p.Q951*	ENST00000314595	NM_000938.1	951	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3511.1	2851	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGACAAGAG	NONE	.	.	Superfamily_domains:SSF64484,Pfam_domain:PF00562,Gene3D:2a6hC01,hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856	.	.	ENSP00000370625	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000381227	Transcript	.	.	ENSG00000047315	9188	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPB2_HUMAN	POLR2B	HGNC	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN	.	UPI00001345D1	SNV	POLR2B,stop_gained,p.Gln944Ter,ENST00000441246,;POLR2B,stop_gained,p.Gln876Ter,ENST00000431623,;POLR2B,stop_gained,p.Gln951Ter,ENST00000381227,;POLR2B,stop_gained,p.Gln951Ter,ENST00000314595,;POLR2B,non_coding_transcript_exon_variant,,ENST00000464918,;POLR2B,non_coding_transcript_exon_variant,,ENST00000484821,;POLR2B,non_coding_transcript_exon_variant,,ENST00000478188,;	3264	184	159	SUCCESS
NUDT12	83594	.	GRCh37	5	102886634	102886634	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	112	0	ENST00000230792.2:c.1317C>T	p.Phe439=	p.F439=	ENST00000230792	NM_031438.2	439	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS4096.1	1317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGAATGC	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR22769,hmmpanther:PTHR22769:SF7,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000230792	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,synonymous_variant,p.%3D,ENST00000507423,;NUDT12,synonymous_variant,p.%3D,ENST00000230792,;NUDT12,downstream_gene_variant,,ENST00000515407,;	1414	112	118	SUCCESS
SNX2	6643	.	GRCh37	5	122110769	122110775	+	5_prime_UTR_variant	5'UTR	DEL	CAGCTCG	CAGCTCG	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	CAGCTCG	CAGCTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	56	0	ENST00000379516.2:c.-29_-23del		p.*10*	ENST00000379516	NM_003100.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34217.1	.	INDELOCATOR*|PINDEL	.	GAGGCCCAGCTCGCGCAG	NONE	.	.	.	.	.	ENSP00000368831	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000379516	Transcript	.	.	ENSG00000205302	11173	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX2_HUMAN	SNX2	HGNC	B4DEK4_HUMAN	.	UPI0000140645	deletion	SNX2,5_prime_UTR_variant,,ENST00000379516,;SNX2,upstream_gene_variant,,ENST00000505934,;SNX2,upstream_gene_variant,,ENST00000514949,;AC093267.1,downstream_gene_variant,,ENST00000390825,;SNX2,upstream_gene_variant,,ENST00000506874,;SNX2,5_prime_UTR_variant,,ENST00000512394,;SNX2,upstream_gene_variant,,ENST00000505854,;	79-85	56	76	SUCCESS
SLC6A18	348932	.	GRCh37	5	1245974	1245974	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	81	0	ENST00000324642.3:c.1668C>G	p.Pro556=	p.P556=	ENST00000324642	NM_182632.2	556	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3860.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCTCGCG	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000323549	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000324642	Transcript	1	.	ENSG00000164363	26441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A18_HUMAN	SLC6A18	HGNC	.	.	UPI0000197EA2	SNV	SLC6A18,synonymous_variant,p.%3D,ENST00000324642,;SLC6A18,downstream_gene_variant,,ENST00000296821,;	1791	81	97	SUCCESS
CHSY3	337876	.	GRCh37	5	129520172	129520172	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	6	169	0	ENST00000305031.4:c.1337T>A	p.Leu446Gln	p.L446Q	ENST00000305031	NM_175856.4	446	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS34223.1	1337	MUTECT|MUSE	.	GCAGCTGGGAG	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Pfam_domain:PF05679	.	.	ENSP00000302629	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Leu446Gln,ENST00000305031,;CHSY3,non_coding_transcript_exon_variant,,ENST00000507545,;	1695	169	161	SUCCESS
PCDH1	5097	.	GRCh37	5	141244054	141244054	+	synonymous_variant	Silent	SNP	C	C	G	rs750940944	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	59	0	ENST00000394536.3:c.1842G>C	p.Leu614=	p.L614=	ENST00000394536	NM_002587.4	614	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS4267.1	1842	RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCAGCAT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000287008	.	3/5	.	.	.	.	.	.	.	.	rs750940944	3/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,synonymous_variant,p.%3D,ENST00000536585,;PCDH1,synonymous_variant,p.%3D,ENST00000456271,;PCDH1,synonymous_variant,p.%3D,ENST00000287008,;PCDH1,synonymous_variant,p.%3D,ENST00000394536,;PCDH1,synonymous_variant,p.%3D,ENST00000357517,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,downstream_gene_variant,,ENST00000505937,;	1990	59	54	SUCCESS
ARHGEF37	389337	.	GRCh37	5	149003635	149003635	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369747296	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	46	0	ENST00000333677.6:c.1396C>T	p.Arg466Trp	p.R466W	ENST00000333677	NM_001001669.2	466	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS43385.1	1396	MUTECT|MUSE	.	TGGGCCGGACG	BUFFER|p.A463V|c.1388C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR22834:SF9,hmmpanther:PTHR22834	.	T:0	ENSP00000328083	.	10/13	.	.	.	.	.	.	.	.	rs369747296	10/13	PASS	ENST00000333677	Transcript	.	.	ENSG00000183111	34430	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.462)	.	deleterious(0)	.	ARH37_HUMAN	ARHGEF37	HGNC	D6RJH4_HUMAN	.	UPI00001D7F04	SNV	ARHGEF37,missense_variant,p.Arg466Trp,ENST00000333677,;ARHGEF37,upstream_gene_variant,,ENST00000509831,;	1559	46	63	SUCCESS
CAMK2A	815	.	GRCh37	5	149631366	149631366	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	9	152	0	ENST00000348628.6:c.640T>C	p.Trp214Arg	p.W214R	ENST00000348628	NM_171825.2	214	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS43387.1	640	MUTECT|MUSE	.	ATCCCAGAACG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	.	.	ENSP00000381412	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000398376	Transcript	.	.	ENSG00000070808	1460	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	KCC2A_HUMAN	CAMK2A	HGNC	D6RHX9_HUMAN,D6RFJ0_HUMAN,A8K161_HUMAN	.	UPI0000161115	SNV	CAMK2A,missense_variant,p.Trp214Arg,ENST00000348628,;CAMK2A,missense_variant,p.Trp214Arg,ENST00000398376,;CAMK2A,downstream_gene_variant,,ENST00000515758,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000508662,;	644	152	158	SUCCESS
FAT2	2196	.	GRCh37	5	150947398	150947398	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	38	162	0	ENST00000261800.5:c.1095T>A	p.Ala365=	p.A365=	ENST00000261800	NM_001447.2	365	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4317.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACAGCCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	1108	162	195	SUCCESS
TENM2	57451	.	GRCh37	5	167625964	167625964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770204553	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	92	0	ENST00000518659.1:c.3007G>A	p.Ala1003Thr	p.A1003T	ENST00000518659	NM_001122679.1	1003	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	3007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACGCCATG	NONE	byFrequency	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Superfamily_domains:SSF49464	.	.	ENSP00000429430	.	16/29	.	.	.	.	.	.	.	.	rs770204553	16/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.592)	.	tolerated(0.11)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Ala1003Thr,ENST00000545108,;TENM2,missense_variant,p.Ala771Thr,ENST00000520394,;TENM2,missense_variant,p.Ala882Thr,ENST00000519204,;TENM2,missense_variant,p.Ala1003Thr,ENST00000518659,;TENM2,missense_variant,p.Ala827Thr,ENST00000403607,;	3046	92	104	SUCCESS
NHP2	55651	.	GRCh37	5	177577899	177577899	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771358605	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	44	0	ENST00000274606.3:c.326C>T	p.Pro109Leu	p.P109L	ENST00000274606	NM_017838.3	109	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4432.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGGGATA	NONE	.	.	hmmpanther:PTHR23105,Pfam_domain:PF01248,Gene3D:3.30.1330.30,Superfamily_domains:SSF55315,Prints_domain:PR00883,Prints_domain:PR00881	.	.	ENSP00000274606	.	3/4	.	.	.	.	.	.	.	.	rs771358605	3/4	PASS	ENST00000274606	Transcript	1	.	ENSG00000145912	14377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NHP2_HUMAN	NHP2	HGNC	.	.	UPI0000070B03	SNV	NHP2,missense_variant,p.Pro109Leu,ENST00000511078,;NHP2,missense_variant,p.Pro109Leu,ENST00000274606,;NHP2,missense_variant,p.Pro109Leu,ENST00000514354,;NHP2,missense_variant,p.Pro62Leu,ENST00000502263,;NHP2,intron_variant,,ENST00000314397,;RMND5B,downstream_gene_variant,,ENST00000313386,;RMND5B,downstream_gene_variant,,ENST00000542098,;RMND5B,downstream_gene_variant,,ENST00000515098,;RMND5B,downstream_gene_variant,,ENST00000513162,;RMND5B,downstream_gene_variant,,ENST00000507575,;NHP2,downstream_gene_variant,,ENST00000510363,;RMND5B,downstream_gene_variant,,ENST00000515360,;RMND5B,downstream_gene_variant,,ENST00000507937,;	476	44	48	SUCCESS
ZFP62	643836	.	GRCh37	5	180276368	180276368	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	89	0	ENST00000502412.1:c.2127T>G	p.Ala709=	p.A709=	ENST00000502412	NM_001172638.1	709	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54955.1	2127	MUTECT|MUSE|VARSCANS	.	AAAAAAGCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF15,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000423820	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000502412	Transcript	.	.	ENSG00000196670	23241	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFP62_HUMAN	ZFP62	HGNC	J3QSW3_HUMAN,D6RCF6_HUMAN,D6RBG3_HUMAN,D6R9C0_HUMAN	.	UPI0001C53D24	SNV	ZFP62,synonymous_variant,p.%3D,ENST00000512132,;ZFP62,synonymous_variant,p.%3D,ENST00000359141,;ZFP62,synonymous_variant,p.%3D,ENST00000502412,;ZFP62,downstream_gene_variant,,ENST00000504225,;ZFP62,downstream_gene_variant,,ENST00000506439,;ZFP62,downstream_gene_variant,,ENST00000509066,;ZFP62,intron_variant,,ENST00000506377,;ZFP62,non_coding_transcript_exon_variant,,ENST00000507843,;	2185	89	87	SUCCESS
DHX29	54505	.	GRCh37	5	54586093	54586096	+	frameshift_variant	Frame_Shift_Del	DEL	TTGT	TTGT	-	rs765664094	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	TTGT	TTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	104	21	140	0	ENST00000251636.5:c.857_860del	p.Asn286SerfsTer11	p.N286Sfs*11	ENST00000251636	NM_019030.2	286	aACAAg/ag	0	.	.	.	.	.	-	NK/X	protein_coding	YES	CCDS34158.1	857-860	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTGCTTGTTTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18934:SF82,hmmpanther:PTHR18934	.	.	ENSP00000251636	.	7/27	.	.	.	.	.	.	.	.	rs765664094	7/27	PASS	ENST00000251636	Transcript	.	.	ENSG00000067248	15815	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX29_HUMAN	DHX29	HGNC	.	.	UPI00001AE72C	deletion	DHX29,frameshift_variant,p.Asn286SerfsTer11,ENST00000251636,;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	1006-1009	140	125	SUCCESS
OCLN	100506658	.	GRCh37	5	68800058	68800058	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs768413722	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	266	19	337	0	ENST00000355237.2:c.-14A>G		p.*5*	ENST00000355237	NM_002538.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4006.1	.	MUTECT|MUSE	.	TGACCATTGAC	NONE	byFrequency	.	.	.	.	ENSP00000347379	.	2/9	.	.	.	.	.	.	.	.	rs768413722	2/9	PASS	ENST00000355237	Transcript	1	.	ENSG00000197822	8104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OCLN_HUMAN	OCLN	HGNC	.	.	UPI00000341F0	SNV	OCLN,5_prime_UTR_variant,,ENST00000542132,;OCLN,5_prime_UTR_variant,,ENST00000396442,;OCLN,5_prime_UTR_variant,,ENST00000355237,;OCLN,5_prime_UTR_variant,,ENST00000538151,;OCLN,5_prime_UTR_variant,,ENST00000380766,;RP11-241G9.3,upstream_gene_variant,,ENST00000514270,;GUSBP3,intron_variant,,ENST00000380759,;	423	337	285	SUCCESS
OTP	23440	.	GRCh37	5	76932919	76932919	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	72	0	ENST00000306422.3:c.174G>T	p.Leu58=	p.L58=	ENST00000306422	NM_032109.2	58	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4039.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCAGCAG	NONE	.	.	hmmpanther:PTHR24329:SF274,hmmpanther:PTHR24329	.	.	ENSP00000302814	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000306422	Transcript	.	.	ENSG00000171540	8518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTP_HUMAN	OTP	HGNC	.	.	UPI0000021CAA	SNV	OTP,synonymous_variant,p.%3D,ENST00000306422,;OTP,upstream_gene_variant,,ENST00000515716,;	1313	72	70	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79733274	79733274	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	16	217	0	ENST00000338008.5:c.770A>G	p.His257Arg	p.H257R	ENST00000338008	NM_014733.3	257	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4050.1	770	MUTECT|MUSE	.	GTTTCATGCCA	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43,PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	deleterious(0.04)	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,missense_variant,p.His257Arg,ENST00000338008,;ZFYVE16,missense_variant,p.His257Arg,ENST00000505560,;ZFYVE16,missense_variant,p.His257Arg,ENST00000510158,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;	950	217	239	SUCCESS
ATG10	83734	.	GRCh37	5	81474399	81474399	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs548892230	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	116	0	ENST00000282185.3:c.446C>T	p.Thr149Met	p.T149M	ENST00000282185	NM_031482.4	149	aCg/aTg	0	.	T:0	.	T:0.0014	.	T	T/M	protein_coding	YES	CCDS4057.1	446	MUTECT|MUSE	.	TATTACGCAAC	NONE	by1000G	.	hmmpanther:PTHR14957,Pfam_domain:PF03987	T:0	.	ENSP00000282185	T:0	5/8	.	.	.	.	.	.	.	.	rs548892230	5/8	PASS	ENST00000282185	Transcript	.	T:0.0002	ENSG00000152348	20315	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	T:0	deleterious(0)	.	ATG10_HUMAN	ATG10	HGNC	D6RDX3_HUMAN,D6RC89_HUMAN	.	UPI0000037BF4	SNV	ATG10,missense_variant,p.Thr149Met,ENST00000282185,;ATG10,missense_variant,p.Thr149Met,ENST00000513634,;ATG10,missense_variant,p.Thr149Met,ENST00000458350,;ATG10,non_coding_transcript_exon_variant,,ENST00000514253,;ATG10,non_coding_transcript_exon_variant,,ENST00000508814,;ATG10,missense_variant,p.Thr149Met,ENST00000504770,;	740	116	147	SUCCESS
ELOVL2	54898	.	GRCh37	6	10995354	10995354	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs769883226	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	234	0	ENST00000354666.3:c.391A>C	p.Ile131Leu	p.I131L	ENST00000354666	NM_017770.3	131	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4518.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATTGTGT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF16,Pfam_domain:PF01151	.	.	ENSP00000346693	.	5/8	.	.	.	.	.	.	.	.	rs769883226	5/8	PASS	ENST00000354666	Transcript	.	.	ENSG00000197977	14416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.18)	.	ELOV2_HUMAN	ELOVL2	HGNC	.	.	UPI0000051C66	SNV	ELOVL2,missense_variant,p.Ile131Leu,ENST00000354666,;	475	234	165	SUCCESS
RFPL4B	442247	.	GRCh37	6	112671285	112671285	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	62	0	ENST00000441065.2:c.375T>A	p.Asp125Glu	p.D125E	ENST00000441065	NM_001013734.2	125	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS34515.1	375	MUTECT|MUSE|VARSCANS	.	CACGATCTGAC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462:SF216,hmmpanther:PTHR25462,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000423391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441065	Transcript	.	.	ENSG00000251258	33264	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	.	deleterious(0.02)	.	RFPLB_HUMAN	RFPL4B	HGNC	.	.	UPI00001972F0	SNV	RFPL4B,missense_variant,p.Asp125Glu,ENST00000441065,;RP11-506B6.6,non_coding_transcript_exon_variant,,ENST00000587816,;RP11-506B6.6,downstream_gene_variant,,ENST00000585611,;RP11-506B6.6,downstream_gene_variant,,ENST00000585504,;RP11-506B6.6,downstream_gene_variant,,ENST00000590673,;	687	62	52	SUCCESS
TIAM2	26230	.	GRCh37	6	155458347	155458347	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750244093	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	91	0	ENST00000318981.5:c.1231A>T	p.Ser411Cys	p.S411C	ENST00000318981	NM_012454.3	411	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34558.1	1231	MUTECT|MUSE	.	TTGACAGTCGC	NONE	.	.	hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826	.	.	ENSP00000437188	.	7/29	.	.	.	.	.	.	.	.	rs750244093	7/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.114)	.	deleterious(0.01)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Ser411Cys,ENST00000528535,;TIAM2,missense_variant,p.Ser411Cys,ENST00000461783,;TIAM2,missense_variant,p.Ser411Cys,ENST00000456144,;TIAM2,missense_variant,p.Ser411Cys,ENST00000318981,;TIAM2,missense_variant,p.Ser411Cys,ENST00000529824,;TIAM2,missense_variant,p.Ser411Cys,ENST00000360366,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;	2504	91	66	SUCCESS
C6orf62	81688	.	GRCh37	6	24718827	24718828	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	130	16	170	0	ENST00000378119.4:c.69dup	p.Glu24ArgfsTer5	p.E24Rfs*5	ENST00000378119	NM_030939.4	23	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS4559.1	69-70	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATTCTTTTT	NONE	.	.	Pfam_domain:PF15130,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000367359	.	1/5	.	.	.	.	.	.	.	.	COSM1442490	1/5	PASS	ENST00000378119	Transcript	.	.	ENSG00000112308	20998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	CF062_HUMAN	C6orf62	HGNC	B4DWX7_HUMAN	.	UPI000000DC64	insertion	C6orf62,frameshift_variant,p.Glu24ArgfsTer5,ENST00000378119,;C6orf62,intron_variant,,ENST00000378102,;C6orf62,intron_variant,,ENST00000540769,;	2237-2238	170	146	SUCCESS
SLC17A2	10246	.	GRCh37	6	25917287	25917287	+	synonymous_variant	Silent	SNP	T	T	C	rs200248053	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	54	0	ENST00000265425.3:c.678A>G	p.Leu226=	p.L226=	ENST00000265425		226	ctA/ctG	0	.	C:0.0008	.	C:0	.	C	L	protein_coding	YES	CCDS4567.1	678	MUTECT|MUSE	.	AACCATAGGAG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11662:SF193,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	C:0	.	ENSP00000353677	C:0	7/11	.	.	.	.	.	.	.	.	rs200248053	7/11	PASS	ENST00000360488	Transcript	.	C:0.0002	ENSG00000112337	10930	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	NPT3_HUMAN	SLC17A2	HGNC	.	.	UPI0000000DB7	SNV	SLC17A2,synonymous_variant,p.%3D,ENST00000377850,;SLC17A2,synonymous_variant,p.%3D,ENST00000265425,;SLC17A2,synonymous_variant,p.%3D,ENST00000360488,;	1096	54	41	SUCCESS
HIST1H4J	0	.	GRCh37	6	27791909	27791909	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs918002664	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	44	250	0	ENST00000355057.1:c.7G>A	p.Gly3Ser	p.G3S	ENST00000355057	NM_021968.3	3	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS4630.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	.	.	ENSP00000347168	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355057	Transcript	.	.	ENSG00000197238	4785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.05)	.	H4_HUMAN	HIST1H4J	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4J,missense_variant,p.Gly3Ser,ENST00000355057,;	26	251	187	SUCCESS
EGFL8	80864	.	GRCh37	6	32134918	32134918	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370079247	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	78	0	ENST00000333845.6:c.485C>A	p.Thr162Lys	p.T162K	ENST00000333845	NM_030652.3	162	aCg/aAg	0	T:0.0003	.	.	.	.	A	T/K	protein_coding	YES	CCDS4743.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATACGGCAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50026,hmmpanther:PTHR14949:SF22,hmmpanther:PTHR14949,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	T:0	ENSP00000378888	.	6/9	.	.	.	.	.	.	.	.	rs370079247	6/9	PASS	ENST00000395512	Transcript	.	.	ENSG00000241404	13944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0)	.	EGFL8_HUMAN	EGFL8	HGNC	.	.	UPI000006FB40	SNV	EGFL8,missense_variant,p.Thr162Lys,ENST00000395512,;EGFL8,missense_variant,p.Thr162Lys,ENST00000333845,;EGFL8,splice_region_variant,,ENST00000432129,;AGPAT1,downstream_gene_variant,,ENST00000395496,;PPT2,downstream_gene_variant,,ENST00000395523,;PPT2,downstream_gene_variant,,ENST00000324816,;AGPAT1,downstream_gene_variant,,ENST00000375107,;AGPAT1,downstream_gene_variant,,ENST00000395499,;AGPAT1,downstream_gene_variant,,ENST00000375104,;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000395497,;AGPAT1,downstream_gene_variant,,ENST00000336984,;PPT2,downstream_gene_variant,,ENST00000361568,;PPT2,downstream_gene_variant,,ENST00000375137,;AGPAT1,downstream_gene_variant,,ENST00000412465,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;PPT2,downstream_gene_variant,,ENST00000493548,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,upstream_gene_variant,,ENST00000489721,;AGPAT1,downstream_gene_variant,,ENST00000476663,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000428388,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000583227,;EGFL8,non_coding_transcript_exon_variant,,ENST00000482938,;EGFL8,non_coding_transcript_exon_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;	590	78	77	SUCCESS
ZNF76	7629	.	GRCh37	6	35255576	35255576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	58	0	ENST00000373953.3:c.386G>T	p.Gly129Val	p.G129V	ENST00000373953	NM_003427.3	129	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4801.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCTTCA	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448	.	.	ENSP00000363064	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000373953	Transcript	.	.	ENSG00000065029	13149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.08)	.	ZNF76_HUMAN	ZNF76	HGNC	E7EX64_HUMAN	.	UPI000013C41C	SNV	ZNF76,missense_variant,p.Gly129Val,ENST00000469195,;ZNF76,missense_variant,p.Gly103Val,ENST00000440666,;ZNF76,missense_variant,p.Gly129Val,ENST00000339411,;ZNF76,missense_variant,p.Gly129Val,ENST00000373953,;ZNF76,missense_variant,p.Gly129Val,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000486891,;ZNF76,non_coding_transcript_exon_variant,,ENST00000491400,;ZNF76,downstream_gene_variant,,ENST00000484932,;ZNF76,upstream_gene_variant,,ENST00000479226,;ZNF76,downstream_gene_variant,,ENST00000460229,;	652	58	46	SUCCESS
TFAP2B	7021	.	GRCh37	6	50791246	50791246	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	32	147	0	ENST00000393655.3:c.208T>G	p.Phe70Val	p.F70V	ENST00000393655	NM_003221.3	70	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS4934.2	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACTTCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812	.	.	ENSP00000377265	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000393655	Transcript	.	.	ENSG00000008196	11743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious(0)	.	AP2B_HUMAN	TFAP2B	HGNC	A8K557_HUMAN	.	UPI000020DE90	SNV	TFAP2B,missense_variant,p.Phe70Val,ENST00000393655,;TFAP2B,missense_variant,p.Phe79Val,ENST00000263046,;TFAP2B,missense_variant,p.Phe68Val,ENST00000344788,;TFAP2B,non_coding_transcript_exon_variant,,ENST00000489228,;	377	147	122	SUCCESS
NYAP1	222950	.	GRCh37	7	100086033	100086033	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	79	0	ENST00000300179.2:c.689G>C	p.Ser230Thr	p.S230T	ENST00000300179	NM_173564.3	230	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS5696.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAAGTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	.	.	ENSP00000300179	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.31)	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,missense_variant,p.Ser173Thr,ENST00000454988,;NYAP1,missense_variant,p.Ser230Thr,ENST00000423930,;NYAP1,missense_variant,p.Ser230Thr,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	848	79	101	SUCCESS
CYP2W1	54905	.	GRCh37	7	1024648	1024648	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778191648	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	33	0	ENST00000308919.7:c.400C>T	p.His134Tyr	p.H134Y	ENST00000308919	NM_017781.2	134	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS5319.2	400	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCACAGC	BUFFER|p.R131H|c.392G>A|3	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF50,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000310149	.	3/9	.	.	.	.	.	.	.	.	rs778191648	3/9	PASS	ENST00000308919	Transcript	.	.	ENSG00000073067	20243	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	CP2W1_HUMAN	CYP2W1	HGNC	.	.	UPI000013C59A	SNV	CYP2W1,missense_variant,p.His78Tyr,ENST00000340150,;CYP2W1,missense_variant,p.His134Tyr,ENST00000308919,;CYP2W1,upstream_gene_variant,,ENST00000415893,;CYP2W1,upstream_gene_variant,,ENST00000468456,;CYP2W1,upstream_gene_variant,,ENST00000462453,;	413	33	60	SUCCESS
KCP	375616	.	GRCh37	7	128520499	128520499	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	rs769065978	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	14	114	0	ENST00000476647.2:n.3743T>A		p.*1248*	ENST00000476647				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	CATGCAGGAGC	NONE	.	.	.	.	.	.	.	34/40	.	.	.	.	.	.	.	.	rs769065978	34/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000492679,;KCP,upstream_gene_variant,,ENST00000460528,;	3743	114	159	SUCCESS
NUP205	23165	.	GRCh37	7	135303347	135303347	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	62	0	ENST00000285968.6:c.3959A>C	p.Asp1320Ala	p.D1320A	ENST00000285968	NM_015135.2	1320	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS34759.1	3959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGATAAGG	NONE	.	.	hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	.	.	ENSP00000285968	.	28/43	.	.	.	.	.	.	.	.	.	28/43	PASS	ENST00000285968	Transcript	.	.	ENSG00000155561	18658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.51)	.	NU205_HUMAN	NUP205	HGNC	Q6P486_HUMAN,Q6DKH1_HUMAN	.	UPI00001D74D8	SNV	NUP205,missense_variant,p.Asp1320Ala,ENST00000285968,;NUP205,downstream_gene_variant,,ENST00000472132,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,downstream_gene_variant,,ENST00000463247,;NUP205,upstream_gene_variant,,ENST00000477620,;	3985	62	70	SUCCESS
PRSS1	5644	.	GRCh37	7	142460310	142460310	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	417	17	274	0	ENST00000311737.7:c.483G>A	p.Leu161=	p.L161=	ENST00000311737	NM_002769.4	161	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5872.1	483	MUTECT|MUSE	.	TGCCTGGATGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,synonymous_variant,p.%3D,ENST00000486171,;PRSS1,synonymous_variant,p.%3D,ENST00000311737,;PRSS1,synonymous_variant,p.%3D,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	489	274	434	SUCCESS
ZNF212	7988	.	GRCh37	7	148949877	148949877	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	53	0	ENST00000335870.2:c.622G>A	p.Ala208Thr	p.A208T	ENST00000335870	NM_012256.3	208	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5896.1	622	MUTECT|MUSE	.	GTGGTGCCCAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50805,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF42	.	.	ENSP00000338572	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000335870	Transcript	.	.	ENSG00000170260	13004	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.47)	.	ZN212_HUMAN	ZNF212	HGNC	.	.	UPI000013CEE2	SNV	ZNF212,missense_variant,p.Ala122Thr,ENST00000481584,;ZNF212,missense_variant,p.Ala208Thr,ENST00000335870,;ZNF212,3_prime_UTR_variant,,ENST00000488917,;ZNF212,downstream_gene_variant,,ENST00000462724,;ZNF212,downstream_gene_variant,,ENST00000486371,;	750	53	77	SUCCESS
CHPF2	54480	.	GRCh37	7	150935740	150935740	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	46	0	ENST00000035307.2:c.2292T>A	p.Phe764Leu	p.F764L	ENST00000035307	NM_019015.1	764	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS34779.1	2292	RADIA|MUTECT|MUSE	.	CTCTTTGAGCA	NONE	.	.	hmmpanther:PTHR12369:SF14,hmmpanther:PTHR12369	.	.	ENSP00000035307	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000035307	Transcript	.	.	ENSG00000033100	29270	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.338)	.	deleterious(0.01)	.	CHPF2_HUMAN	CHPF2	HGNC	.	.	UPI000003F537	SNV	CHPF2,missense_variant,p.Phe764Leu,ENST00000035307,;CHPF2,missense_variant,p.Phe756Leu,ENST00000495645,;CHPF2,downstream_gene_variant,,ENST00000482173,;SMARCD3,downstream_gene_variant,,ENST00000491651,;SMARCD3,downstream_gene_variant,,ENST00000262188,;SMARCD3,downstream_gene_variant,,ENST00000392811,;SMARCD3,downstream_gene_variant,,ENST00000356800,;MIR671,downstream_gene_variant,,ENST00000390183,;RP4-548D19.3,upstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,downstream_gene_variant,,ENST00000496530,;SMARCD3,downstream_gene_variant,,ENST00000460431,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000485592,;SMARCD3,downstream_gene_variant,,ENST00000472988,;SMARCD3,downstream_gene_variant,,ENST00000472103,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000485610,;CHPF2,downstream_gene_variant,,ENST00000465601,;SMARCD3,downstream_gene_variant,,ENST00000472789,;	3805	46	60	SUCCESS
DPP6	1804	.	GRCh37	7	153750014	153750014	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs2240820	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	8	0	ENST00000377770.3:c.109G>A	p.Gly37Ser	p.G37S	ENST00000377770		37	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	109	MUTECT|MUSE|VARSCANS	.	AGGACGGCGGC	BUFFER|p.G38G|c.114C>T|4,BUFFER|p.G38G|c.114C>T|4	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000367001	.	1/26	.	.	.	.	.	.	.	.	rs775989484,COSM3304873,COSM3304874	1/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	benign(0.002)	.	tolerated_low_confidence(0.33)	0,1,1	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Gly37Ser,ENST00000377770,;DPP6,missense_variant,p.Gly37Ser,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,;AC006019.3,downstream_gene_variant,,ENST00000425591,;	250	8	24	SUCCESS
EEPD1	80820	.	GRCh37	7	36336619	36336619	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	19	112	0	ENST00000242108.4:c.1333A>G	p.Ile445Val	p.I445V	ENST00000242108	NM_030636.2	445	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34619.1	1333	RADIA|MUTECT|MUSE|VARSCANS	.	TCATTATCTTA	NONE	.	.	Superfamily_domains:SSF56219,Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR21180,hmmpanther:PTHR21180:SF32	.	.	ENSP00000242108	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000242108	Transcript	.	.	ENSG00000122547	22223	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.85)	.	EEPD1_HUMAN	EEPD1	HGNC	.	.	UPI000020ED9D	SNV	EEPD1,missense_variant,p.Ile445Val,ENST00000242108,;EEPD1,missense_variant,p.Ile445Val,ENST00000534978,;EEPD1,upstream_gene_variant,,ENST00000444777,;EEPD1,non_coding_transcript_exon_variant,,ENST00000468591,;EEPD1,non_coding_transcript_exon_variant,,ENST00000487069,;	2051	112	149	SUCCESS
TNS3	64759	.	GRCh37	7	47342556	47342556	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199534852	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	79	0	ENST00000311160.9:c.3449C>T	p.Pro1150Leu	p.P1150L	ENST00000311160	NM_022748.11	1150	cCt/cTt	0	A:0	.	.	.	.	A	P/L	protein_coding	YES	CCDS5506.2	3449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGTGAG	NONE	byCluster	.	hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	A:0.0005	ENSP00000381854	.	22/31	.	.	.	.	.	.	.	.	rs199534852	22/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	deleterious(0.05)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Pro1150Leu,ENST00000398879,;TNS3,missense_variant,p.Pro1150Leu,ENST00000311160,;TNS3,missense_variant,p.Pro910Leu,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000457718,;	3816	79	120	SUCCESS
TBL2	26608	.	GRCh37	7	72985569	72985569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	25	129	0	ENST00000305632.5:c.828G>T	p.Lys276Asn	p.K276N	ENST00000305632	NM_012453.2	276	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5551.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCTTTAG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF380,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000307260	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000305632	Transcript	.	.	ENSG00000106638	11586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	TBL2_HUMAN	TBL2	HGNC	F2Z3G3_HUMAN,B4DY59_HUMAN	.	UPI0000048EF4	SNV	TBL2,missense_variant,p.Lys240Asn,ENST00000432538,;TBL2,missense_variant,p.Lys276Asn,ENST00000305632,;TBL2,downstream_gene_variant,,ENST00000452475,;TBL2,non_coding_transcript_exon_variant,,ENST00000459913,;TBL2,downstream_gene_variant,,ENST00000465279,;TBL2,downstream_gene_variant,,ENST00000468669,;TBL2,downstream_gene_variant,,ENST00000476136,;TBL2,downstream_gene_variant,,ENST00000479892,;TBL2,3_prime_UTR_variant,,ENST00000450285,;TBL2,3_prime_UTR_variant,,ENST00000426966,;TBL2,3_prime_UTR_variant,,ENST00000424598,;TBL2,3_prime_UTR_variant,,ENST00000417008,;TBL2,3_prime_UTR_variant,,ENST00000433464,;TBL2,non_coding_transcript_exon_variant,,ENST00000488915,;TBL2,downstream_gene_variant,,ENST00000496056,;TBL2,downstream_gene_variant,,ENST00000437521,;TBL2,downstream_gene_variant,,ENST00000435792,;TBL2,downstream_gene_variant,,ENST00000458466,;TBL2,downstream_gene_variant,,ENST00000495885,;TBL2,downstream_gene_variant,,ENST00000452125,;TBL2,downstream_gene_variant,,ENST00000469518,;	1070	129	135	SUCCESS
PCLO	27445	.	GRCh37	7	82764470	82764470	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1428811438	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	14	207	0	ENST00000333891.9:c.2396C>G	p.Ser799Cys	p.S799C	ENST00000333891	NM_033026.5	799	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS47630.1	2396	MUTECT|MUSE	.	TGGCAGAGTCT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ser799Cys,ENST00000333891,;PCLO,missense_variant,p.Ser799Cys,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2734	207	223	SUCCESS
SEMA3A	10371	.	GRCh37	7	83643565	83643565	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	84	0	ENST00000265362.4:c.770C>A	p.Ser257Tyr	p.S257Y	ENST00000265362	NM_006080.2	257	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5599.1	770	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGAGTGT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	7/17	.	.	.	.	.	.	.	.	COSM3641710	7/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.32)	.	tolerated(0.05)	1	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Ser257Tyr,ENST00000265362,;SEMA3A,missense_variant,p.Ser257Tyr,ENST00000436949,;	1085	84	98	SUCCESS
DMTF1	9988	.	GRCh37	7	86824435	86824435	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	46	200	0	ENST00000331242.7:c.2262A>T	p.Glu754Asp	p.E754D	ENST00000331242	NM_001142326.1	754	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS5601.1	2262	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGAAGATTT	NONE	.	.	.	.	.	ENSP00000378193	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000394703	Transcript	.	.	ENSG00000135164	14603	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.11)	.	DMTF1_HUMAN	DMTF1	HGNC	J3KRC1_HUMAN,D6W5P0_HUMAN,C9K0L9_HUMAN,C9K0K9_HUMAN,C9JZZ6_HUMAN,C9JVQ7_HUMAN,C9JLR5_HUMAN,C9JGT5_HUMAN,C9JFR2_HUMAN,C9JED5_HUMAN,C9J8Y5_HUMAN,C9J4F7_HUMAN,B3KVS2_HUMAN	.	UPI000006FB78	SNV	DMTF1,missense_variant,p.Glu754Asp,ENST00000394703,;DMTF1,missense_variant,p.Glu488Asp,ENST00000414194,;DMTF1,missense_variant,p.Lys174Met,ENST00000454008,;DMTF1,missense_variant,p.Glu666Asp,ENST00000432937,;DMTF1,missense_variant,p.Glu684Asp,ENST00000413276,;DMTF1,missense_variant,p.Glu754Asp,ENST00000331242,;TMEM243,downstream_gene_variant,,ENST00000257637,;TMEM243,downstream_gene_variant,,ENST00000433078,;TMEM243,downstream_gene_variant,,ENST00000423734,;DMTF1,downstream_gene_variant,,ENST00000582204,;TMEM243,downstream_gene_variant,,ENST00000481425,;TMEM243,downstream_gene_variant,,ENST00000465976,;DMTF1,3_prime_UTR_variant,,ENST00000447863,;DMTF1,3_prime_UTR_variant,,ENST00000412139,;DMTF1,3_prime_UTR_variant,,ENST00000579677,;DMTF1,3_prime_UTR_variant,,ENST00000579850,;DMTF1,3_prime_UTR_variant,,ENST00000425406,;DMTF1,3_prime_UTR_variant,,ENST00000547146,;DMTF1,non_coding_transcript_exon_variant,,ENST00000580010,;DMTF1,non_coding_transcript_exon_variant,,ENST00000488352,;TMEM243,downstream_gene_variant,,ENST00000492231,;DMTF1,downstream_gene_variant,,ENST00000480982,;TMEM243,downstream_gene_variant,,ENST00000474074,;DMTF1,downstream_gene_variant,,ENST00000580803,;DMTF1,downstream_gene_variant,,ENST00000584619,;	2825	200	255	SUCCESS
ZNF804B	219578	.	GRCh37	7	88964910	88964910	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	33	188	0	ENST00000333190.4:c.2614C>A	p.Gln872Lys	p.Q872K	ENST00000333190	NM_181646.2	872	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5613.1	2614	RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCAAGAG	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	COSM3431837	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.004)	.	tolerated(0.83)	1	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Gln872Lys,ENST00000333190,;	3223	188	255	SUCCESS
ANKIB1	54467	.	GRCh37	7	92027849	92027849	+	synonymous_variant	Silent	SNP	A	A	G	rs374467744	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	90	0	ENST00000265742.3:c.2856A>G	p.Ser952=	p.S952=	ENST00000265742	NM_019004.1	952	tcA/tcG	0	G:0.0002	.	.	.	.	G	S	protein_coding	YES	CCDS47639.1	2856	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCATCTAG	NONE	byCluster	.	Low_complexity_(Seg):seg	.	G:0	ENSP00000265742	.	20/20	.	.	.	.	.	.	.	.	rs374467744	20/20	PASS	ENST00000265742	Transcript	.	.	ENSG00000001629	22215	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKIB1_HUMAN	ANKIB1	HGNC	Q4VBX8_HUMAN,C9JZ63_HUMAN	.	UPI00001C1E7C	SNV	ANKIB1,synonymous_variant,p.%3D,ENST00000265742,;ANKIB1,3_prime_UTR_variant,,ENST00000422095,;ANKIB1,downstream_gene_variant,,ENST00000465883,;	3232	90	115	SUCCESS
TRRAP	8295	.	GRCh37	7	98580989	98580989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1399228248	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	34	129	0	ENST00000359863.4:c.8908G>A	p.Val2970Met	p.V2970M	ENST00000359863	NM_001244580.1	2970	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS59066.1	8908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACGGTGGTG	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Pfam_domain:PF02259	.	.	ENSP00000352925	.	59/72	.	.	.	.	.	.	.	.	.	59/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,missense_variant,p.Val2952Met,ENST00000355540,;TRRAP,missense_variant,p.Val2952Met,ENST00000446306,;TRRAP,missense_variant,p.Val2692Met,ENST00000456197,;TRRAP,missense_variant,p.Val2970Met,ENST00000359863,;	9117	129	169	SUCCESS
RNF19A	25897	.	GRCh37	8	101271389	101271389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	37	0	ENST00000341084.2:c.1912G>T	p.Asp638Tyr	p.D638Y	ENST00000341084	NM_183419.3	638	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6286.1	1912	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCATCCA	NONE	.	.	.	.	.	ENSP00000428968	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000519449	Transcript	.	.	ENSG00000034677	13432	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.629)	.	deleterious_low_confidence(0)	.	RN19A_HUMAN	RNF19A	HGNC	E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN	.	UPI000013D5E6	SNV	RNF19A,missense_variant,p.Asp638Tyr,ENST00000519449,;RNF19A,missense_variant,p.Asp638Tyr,ENST00000341084,;SPAG1,non_coding_transcript_exon_variant,,ENST00000519409,;RNF19A,non_coding_transcript_exon_variant,,ENST00000523255,;RNF19A,downstream_gene_variant,,ENST00000523644,;RNF19A,non_coding_transcript_exon_variant,,ENST00000520903,;RNF19A,downstream_gene_variant,,ENST00000520071,;	2229	37	36	SUCCESS
CSMD3	114788	.	GRCh37	8	113519059	113519059	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs770781490	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	8	153	0	ENST00000297405.5:c.4757-1G>T		p.X1586_splice	ENST00000297405	NM_198123.1	1586		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE	.	GGGTGCTTTAA	NONE	.	.	.	.	.	ENSP00000297405	.	.	.	.	.	.	.	.	.	.	rs770781490	.	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	28/70	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,splice_acceptor_variant,,ENST00000352409,;CSMD3,splice_acceptor_variant,,ENST00000455883,;CSMD3,splice_acceptor_variant,,ENST00000297405,;CSMD3,splice_acceptor_variant,,ENST00000339701,;CSMD3,splice_acceptor_variant,,ENST00000343508,;	.	153	110	SUCCESS
NOV	0	.	GRCh37	8	120430376	120430376	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	90	0	ENST00000259526.3:c.389A>G	p.Gln130Arg	p.Q130R	ENST00000259526	NM_002514.3	130	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS6328.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGTGCA	NONE	.	.	Superfamily_domains:SSF57603,PIRSF_domain:PIRSF036495,SMART_domains:SM00214,Pfam_domain:PF00093,PROSITE_patterns:PS01208,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS50184	.	.	ENSP00000259526	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.03)	.	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,missense_variant,p.Gln130Arg,ENST00000259526,;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	616	90	88	SUCCESS
DENND3	22898	.	GRCh37	8	142176419	142176419	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs556706834	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	42	0	ENST00000262585.2:c.1444C>A	p.Pro482Thr	p.P482T	ENST00000262585	NM_014957.2	482	Cct/Act	0	.	A:0	.	A:0.0014	.	A	P/T	protein_coding	YES	CCDS34947.1	1444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCCTGAG	NONE	by1000G	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	A:0	.	ENSP00000262585	A:0	12/23	.	.	.	.	.	.	.	.	rs556706834	12/23	PASS	ENST00000262585	Transcript	.	A:0.0002	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	A:0	tolerated(0.21)	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Pro562Thr,ENST00000519811,;DENND3,missense_variant,p.Pro430Thr,ENST00000424248,;DENND3,missense_variant,p.Pro482Thr,ENST00000262585,;DENND3,missense_variant,p.Pro487Thr,ENST00000518668,;DENND3,downstream_gene_variant,,ENST00000521477,;DENND3,non_coding_transcript_exon_variant,,ENST00000520482,;	1722	42	42	SUCCESS
OPLAH	26873	.	GRCh37	8	145113709	145113709	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868953913	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	61	0	ENST00000426825.1:c.554G>A	p.Arg185His	p.R185H	ENST00000426825	NM_017570.3	185	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	.	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCGGATG	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF05378	.	.	ENSP00000475943	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.02)	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,missense_variant,p.Arg185His,ENST00000426825,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000567871,;OPLAH,upstream_gene_variant,,ENST00000527993,;OPLAH,upstream_gene_variant,,ENST00000531027,;	636	61	45	SUCCESS
KCNU1	157855	.	GRCh37	8	36666269	36666269	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	141	0	ENST00000399881.3:c.690A>C	p.Ile230=	p.I230=	ENST00000399881	NM_001031836.2	230	atA/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS55220.1	690	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATAATTCT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,synonymous_variant,p.%3D,ENST00000523973,;KCNU1,synonymous_variant,p.%3D,ENST00000399881,;KCNU1,synonymous_variant,p.%3D,ENST00000522372,;KCNU1,downstream_gene_variant,,ENST00000522417,;	727	141	86	SUCCESS
XKR4	114786	.	GRCh37	8	56015167	56015167	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	70	0	ENST00000327381.6:c.119C>A	p.Ser40Ter	p.S40*	ENST00000327381	NM_052898.1	40	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS34893.1	119	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTCGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,stop_gained,p.Ser40Ter,ENST00000327381,;	219	70	80	SUCCESS
OR13D1	286365	.	GRCh37	9	107457351	107457351	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	32	168	0	ENST00000318763.5:c.649C>T	p.Leu217=	p.L217=	ENST00000318763	NM_001004484.1	217	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35094.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCTAAAA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF129,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000317357	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318763	Transcript	.	.	ENSG00000179055	14695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O13D1_HUMAN	OR13D1	HGNC	.	.	UPI0000061E68	SNV	OR13D1,synonymous_variant,p.%3D,ENST00000318763,;	692	168	141	SUCCESS
WDR31	114987	.	GRCh37	9	116085393	116085393	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756404364	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	93	0	ENST00000374193.4:c.367C>T	p.Arg123Cys	p.R123C	ENST00000374193	NM_145241.3	123	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS35110.1	367	MUTECT|MUSE	.	GTCACGAGAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19869,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000363308	.	6/11	.	.	.	.	.	.	.	.	rs756404364	6/11	PASS	ENST00000374193	Transcript	.	.	ENSG00000148225	21421	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WDR31_HUMAN	WDR31	HGNC	G5E996_HUMAN	.	UPI000006D080	SNV	WDR31,missense_variant,p.Arg55Cys,ENST00000465979,;WDR31,missense_variant,p.Arg122Cys,ENST00000341761,;WDR31,missense_variant,p.Arg123Cys,ENST00000374193,;WDR31,5_prime_UTR_variant,,ENST00000374195,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,3_prime_UTR_variant,,ENST00000465205,;	614	93	93	SUCCESS
URM1	81605	.	GRCh37	9	131151593	131151593	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	41	0	ENST00000372853.4:c.237+5G>T		p.X79_splice	ENST00000372853	NM_001265582.1	79		0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS48035.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGTACCT	NONE	.	.	HAMAP:MF_03048	.	.	ENSP00000412922	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000452446	Transcript	.	.	ENSG00000167118	28378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious(0)	.	URM1_HUMAN	URM1	HGNC	.	.	UPI00017A7D83	SNV	URM1,missense_variant,p.Ser81Ile,ENST00000452446,;URM1,splice_region_variant,,ENST00000372853,;URM1,3_prime_UTR_variant,,ENST00000372850,;URM1,downstream_gene_variant,,ENST00000372847,;RP11-339B21.11,upstream_gene_variant,,ENST00000609303,;MIR219-2,downstream_gene_variant,,ENST00000385220,;MIR219-2,downstream_gene_variant,,ENST00000608502,;URM1,non_coding_transcript_exon_variant,,ENST00000483206,;URM1,splice_region_variant,,ENST00000470840,;	304	41	68	SUCCESS
C9orf9	0	.	GRCh37	9	135763682	135763682	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	28	135	0	ENST00000356311.5:c.353C>G	p.Pro118Arg	p.P118R	ENST00000356311		118	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS6955.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCCTCATG	NONE	.	.	hmmpanther:PTHR32455,Pfam_domain:PF15120	.	.	ENSP00000298546	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000350499	Transcript	.	.	ENSG00000165698	1367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	deleterious(0.01)	.	CI009_HUMAN	C9orf9	HGNC	.	.	UPI0000049CA1	SNV	C9orf9,missense_variant,p.Pro118Arg,ENST00000372136,;C9orf9,missense_variant,p.Pro118Arg,ENST00000350499,;C9orf9,missense_variant,p.Pro118Arg,ENST00000356311,;TSC1,downstream_gene_variant,,ENST00000298552,;TSC1,downstream_gene_variant,,ENST00000545250,;TSC1,downstream_gene_variant,,ENST00000440111,;	507	135	140	SUCCESS
BICD2	23299	.	GRCh37	9	95526969	95526969	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780000539	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	21	0	ENST00000375512.3:c.58G>A	p.Glu20Lys	p.E20K	ENST00000375512	NM_015250.3	20	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS35064.1	58	RADIA|VARSCANS	.	CCACTCCGGCT	NONE	byFrequency	.	hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7	.	.	ENSP00000349351	.	1/7	.	.	.	.	.	.	.	.	rs780000539	1/7	PASS	ENST00000356884	Transcript	.	.	ENSG00000185963	17208	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.311)	.	tolerated(0.16)	.	BICD2_HUMAN	BICD2	HGNC	.	.	UPI00001BBAF1	SNV	BICD2,missense_variant,p.Glu20Lys,ENST00000375512,;BICD2,missense_variant,p.Glu20Lys,ENST00000356884,;	126	21	30	SUCCESS
DCAF12L1	139170	.	GRCh37	X	125685427	125685427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762351703	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	67	0	ENST00000371126.1:c.1165G>A	p.Ala389Thr	p.A389T	ENST00000371126	NM_178470.4	389	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS14610.1	1165	MUTECT|MUSE|VARSCANS	.	GGTGGCGGAGG	NONE	byFrequency	.	hmmpanther:PTHR19860:SF9,hmmpanther:PTHR19860	.	.	ENSP00000360167	.	1/2	.	.	.	.	.	.	.	.	rs762351703	1/2	PASS	ENST00000371126	Transcript	.	.	ENSG00000198889	29395	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.43)	.	DC121_HUMAN	DCAF12L1	HGNC	.	.	UPI0000160112	SNV	DCAF12L1,missense_variant,p.Ala389Thr,ENST00000371126,;	1408	67	88	SUCCESS
SLITRK4	139065	.	GRCh37	X	142717871	142717871	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1602931314	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	101	0	ENST00000338017.4:c.1054C>A	p.Pro352Thr	p.P352T	ENST00000338017		352	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14679.1	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGGTGTG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	tolerated(0.85)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Pro352Thr,ENST00000381779,;SLITRK4,missense_variant,p.Pro352Thr,ENST00000338017,;SLITRK4,missense_variant,p.Pro352Thr,ENST00000356928,;	1280	101	104	SUCCESS
L1CAM	3897	.	GRCh37	X	153133461	153133461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	32	0	ENST00000370060.1:c.1820T>C	p.Leu607Ser	p.L607S	ENST00000370060	NM_001278116.1	607	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS14733.1	1820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAAGAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	tolerated(0.19)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Leu609Ser,ENST00000538883,;L1CAM,missense_variant,p.Leu65Ser,ENST00000455590,;L1CAM,missense_variant,p.Leu602Ser,ENST00000370055,;L1CAM,missense_variant,p.Leu602Ser,ENST00000361981,;L1CAM,missense_variant,p.Leu609Ser,ENST00000543994,;L1CAM,missense_variant,p.Leu607Ser,ENST00000370057,;L1CAM,missense_variant,p.Leu607Ser,ENST00000370060,;L1CAM,missense_variant,p.Leu607Ser,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,non_coding_transcript_exon_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,downstream_gene_variant,,ENST00000484652,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000460553,;	2010	32	39	SUCCESS
F8	2157	.	GRCh37	X	154158630	154158630	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	17	91	0	ENST00000360256.4:c.3435A>G	p.Pro1145=	p.P1145=	ENST00000360256	NM_000132.3	1145	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS35457.1	3435	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTTGGACT	NONE	.	.	hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,PIRSF_domain:PIRSF000354	.	.	ENSP00000353393	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,synonymous_variant,p.%3D,ENST00000360256,;	3636	92	120	SUCCESS
DDX3X	1654	.	GRCh37	X	41203644	41203644	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	5	158	0	ENST00000399959.2:c.1017C>T	p.Asp339=	p.D339=	ENST00000399959	NM_001193417.1	339	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS43931.1	1017	MUTECT|MUSE	.	TTAGACTTTTG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF195,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000382840	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000399959	Transcript	.	.	ENSG00000215301	2745	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX3X_HUMAN	DDX3X	HGNC	Q59GX6_HUMAN	.	UPI000013CB6D	SNV	DDX3X,synonymous_variant,p.%3D,ENST00000399959,;DDX3X,synonymous_variant,p.%3D,ENST00000457138,;DDX3X,3_prime_UTR_variant,,ENST00000542215,;DDX3X,intron_variant,,ENST00000441189,;RN7SL15P,downstream_gene_variant,,ENST00000582825,;DDX3X,non_coding_transcript_exon_variant,,ENST00000478993,;	1872	158	116	SUCCESS
POU3F4	5456	.	GRCh37	X	82763684	82763684	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	93	0	ENST00000373200.2:c.352C>T	p.Pro118Ser	p.P118S	ENST00000373200	NM_000307.4	118	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS14450.1	352	MUTECT|MUSE	.	CCAGCCCGGCA	NONE	.	.	hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF66,PIRSF_domain:PIRSF002629	.	.	ENSP00000362296	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373200	Transcript	.	.	ENSG00000196767	9217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.41)	.	PO3F4_HUMAN	POU3F4	HGNC	.	.	UPI000045785D	SNV	POU3F4,missense_variant,p.Pro118Ser,ENST00000373200,;RP3-326L13.3,upstream_gene_variant,,ENST00000607789,;RP3-326L13.2,non_coding_transcript_exon_variant,,ENST00000607095,;	416	93	130	SUCCESS
TCF7L2	6934	.	GRCh37	10	114912183	114912183	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	60	0	ENST00000543371.1:c.1253C>A	p.Ser418Tyr	p.S418Y	ENST00000543371	NM_001198531.1	418	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS53577.1	1253	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCCGCGC	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000444972	.	11/14	.	.	.	.	.	.	.	.	.	11/14	nonpreferredpair	ENST00000543371	Transcript	1	.	ENSG00000148737	11641	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TF7L2_HUMAN	TCF7L2	HGNC	E2GH26_HUMAN,C6ZRJ8_HUMAN	.	UPI000002B4A6	SNV	TCF7L2,missense_variant,p.Ser418Tyr,ENST00000538897,;TCF7L2,missense_variant,p.Ser134Tyr,ENST00000542695,;TCF7L2,missense_variant,p.Ser135Tyr,ENST00000277945,;TCF7L2,missense_variant,p.Ser129Tyr,ENST00000369389,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000534894,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000543371,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000545257,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000355995,;TCF7L2,missense_variant,p.Ser418Tyr,ENST00000536810,;TCF7L2,missense_variant,p.Ser61Tyr,ENST00000369386,;TCF7L2,missense_variant,p.Ser395Tyr,ENST00000352065,;TCF7L2,missense_variant,p.Ser442Tyr,ENST00000355717,;TCF7L2,missense_variant,p.Ser395Tyr,ENST00000369397,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000466338,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000480888,;TCF7L2,missense_variant,p.Ser49Tyr,ENST00000470254,;	1760	60	55	SUCCESS
USP6NL	9712	.	GRCh37	10	11505005	11505005	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	57	0	ENST00000609104.1:c.1922A>C	p.Asn641Thr	p.N641T	ENST00000609104	NM_014688.2	641	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS44357.1	1973	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTTTCCG	NONE	.	.	.	.	.	ENSP00000277575	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000277575	Transcript	.	.	ENSG00000148429	16858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.575)	.	deleterious_low_confidence(0.02)	.	US6NL_HUMAN	USP6NL	HGNC	.	.	UPI0000251ED1	SNV	USP6NL,missense_variant,p.Asn641Thr,ENST00000609104,;USP6NL,missense_variant,p.Asn664Thr,ENST00000379237,;USP6NL,missense_variant,p.Asn658Thr,ENST00000277575,;	2016	57	46	SUCCESS
MPP7	143098	.	GRCh37	10	28378706	28378706	+	synonymous_variant	Silent	SNP	T	T	C	rs1242855948	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	10	100	0	ENST00000337532.5:c.1017A>G	p.Glu339=	p.E339=	ENST00000337532	NM_173496.3	339	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS7158.1	1017	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCATTCATA	NONE	.	.	hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	.	.	ENSP00000337907	.	13/18	.	.	.	.	.	.	.	.	.	13/18	nonpreferredpair	ENST00000337532	Transcript	.	.	ENSG00000150054	26542	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MPP7_HUMAN	MPP7	HGNC	.	.	UPI00000558E1	SNV	MPP7,synonymous_variant,p.%3D,ENST00000441595,;MPP7,synonymous_variant,p.%3D,ENST00000445954,;MPP7,synonymous_variant,p.%3D,ENST00000375719,;MPP7,synonymous_variant,p.%3D,ENST00000375732,;MPP7,synonymous_variant,p.%3D,ENST00000540098,;MPP7,synonymous_variant,p.%3D,ENST00000337532,;MPP7,synonymous_variant,p.%3D,ENST00000496637,;	1294	100	89	SUCCESS
RET	5979	.	GRCh37	10	43598063	43598063	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	46	0	ENST00000355710.3:c.611A>G	p.Tyr204Cys	p.Y204C	ENST00000355710	NM_020975.4	204	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7200.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTACAGGC	NONE	.	.	Superfamily_domains:SSF49313,PIRSF_domain:PIRSF000631,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416,PROSITE_profiles:PS50268	.	.	ENSP00000347942	.	3/20	.	.	.	.	.	.	.	.	.	3/20	nonpreferredpair	ENST00000355710	Transcript	1	.	ENSG00000165731	9967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	RET_HUMAN	RET	HGNC	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	.	UPI00001336E1	SNV	RET,missense_variant,p.Tyr204Cys,ENST00000340058,;RET,missense_variant,p.Tyr204Cys,ENST00000355710,;RET,intron_variant,,ENST00000498820,;RET,upstream_gene_variant,,ENST00000479913,;	843	46	32	SUCCESS
ERCC6	2074	.	GRCh37	10	50669432	50669432	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs937200876	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	47	1	ENST00000355832.5:c.3949C>T	p.His1317Tyr	p.H1317Y	ENST00000355832	NM_000124.3	1317	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS7229.1	3949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGGCCAG	NONE	.	.	hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799	.	.	ENSP00000348089	.	19/21	.	.	.	.	.	.	.	.	.	19/21	nonpreferredpair	ENST00000355832	Transcript	1	.	ENSG00000225830	3438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.08)	.	ERCC6_HUMAN	ERCC6	HGNC	F5H493_HUMAN,D6R9X7_HUMAN	.	UPI000000D8DA	SNV	ERCC6,missense_variant,p.His687Tyr,ENST00000542458,;ERCC6,missense_variant,p.His1317Tyr,ENST00000355832,;RP11-123B3.2,intron_variant,,ENST00000423283,;ERCC6,non_coding_transcript_exon_variant,,ENST00000465653,;	4028	48	37	SUCCESS
ARID5B	84159	.	GRCh37	10	63850753	63850753	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	14	164	0	ENST00000279873.7:c.1531A>T	p.Arg511Ter	p.R511*	ENST00000279873	NM_032199.2	511	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS31208.1	1531	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGAGTA	NONE	.	.	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22	.	.	ENSP00000279873	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,stop_gained,p.Arg511Ter,ENST00000279873,;ARID5B,stop_gained,p.Arg268Ter,ENST00000309334,;	1941	164	140	SUCCESS
SLIT1	6585	.	GRCh37	10	98762480	98762480	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373006664	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	47	0	ENST00000266058.4:c.4135G>A	p.Gly1379Ser	p.G1379S	ENST00000266058	NM_003061.2	1379	Ggc/Agc	0	T:0	.	.	.	.	T	G/S	protein_coding	YES	CCDS7453.1	4135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCGTCAG	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2gy5A03	.	T:0.0001	ENSP00000266058	.	35/37	.	.	.	.	.	.	.	.	rs373006664	35/37	nonpreferredpair	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.07)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Gly1379Ser,ENST00000371070,;SLIT1,missense_variant,p.Gly1379Ser,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;SLIT1,upstream_gene_variant,,ENST00000494968,;	4381	47	30	SUCCESS
SLIT1	6585	.	GRCh37	10	98945408	98945408	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	24	0	ENST00000266058.4:c.24G>A	p.Gly8=	p.G8=	ENST00000266058	NM_003061.2	8	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7453.1	24	MUTECT|MUSE	.	GAGGACCCCCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000266058	.	1/37	.	.	.	.	.	.	.	.	.	1/37	nonpreferredpair	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,synonymous_variant,p.%3D,ENST00000371041,;SLIT1,synonymous_variant,p.%3D,ENST00000371070,;SLIT1,synonymous_variant,p.%3D,ENST00000266058,;ARHGAP19-SLIT1,intron_variant,,ENST00000453547,;SLIT1,upstream_gene_variant,,ENST00000314867,;SLIT1,non_coding_transcript_exon_variant,,ENST00000456008,;ARHGAP19-SLIT1,intron_variant,,ENST00000479633,;	270	24	19	SUCCESS
MMP13	4322	.	GRCh37	11	102826222	102826222	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs767829684	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	65	0	ENST00000260302.3:c.121C>T	p.Arg41Cys	p.R41C	ENST00000260302	NM_002427.3	41	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8324.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGCTAGA	NONE	.	.	hmmpanther:PTHR10201:SF130,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000260302	.	2/10	.	.	.	.	.	.	.	.	rs767829684,COSM1350433	2/10	nonpreferredpair	ENST00000260302	Transcript	.	.	ENSG00000137745	7159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.51)	.	deleterious(0)	0,1	MMP13_HUMAN	MMP13	HGNC	Q6LBE5_HUMAN	.	UPI00000422BC	SNV	MMP13,missense_variant,p.Arg41Cys,ENST00000260302,;MMP13,missense_variant,p.Arg41Cys,ENST00000340273,;	150	65	72	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103060527	103060527	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	80	0	ENST00000375735.2:c.7419G>C	p.Met2473Ile	p.M2473I	ENST00000375735	NM_001080463.1	2473	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS44717.1	7419	RADIA|MUTECT|MUSE|VARSCANS	.	TCTATGGTACA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Superfamily_domains:SSF52540	.	.	ENSP00000381167	.	45/90	.	.	.	.	.	.	.	.	.	45/90	nonpreferredpair	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.106)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Met2473Ile,ENST00000398093,;DYNC2H1,missense_variant,p.Met2473Ile,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	7419	80	77	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103229042	103229042	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	5	78	0	ENST00000375735.2:c.12111T>C	p.Ser4037=	p.S4037=	ENST00000375735	NM_001080463.1	4037	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS44717.1	12132	MUTECT|MUSE	.	TGGTCTAATGA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF03028	.	.	ENSP00000381167	.	84/90	.	.	.	.	.	.	.	.	.	84/90	nonpreferredpair	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,synonymous_variant,p.%3D,ENST00000398093,;DYNC2H1,synonymous_variant,p.%3D,ENST00000375735,;DYNC2H1,synonymous_variant,p.%3D,ENST00000533197,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;	12132	78	88	SUCCESS
ELMOD1	55531	.	GRCh37	11	107463045	107463045	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	93	0	ENST00000265840.7:c.-86+910A>C		p.*29*	ENST00000265840	NM_018712.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTAGGAAA	NONE	.	.	.	.	.	ENSP00000472830	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000600612	Transcript	.	.	ENSG00000268467	.	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AP000889.3	Clone_based_ensembl_gene	Q96LP0_HUMAN	.	UPI000006D120	SNV	AP000889.3,splice_acceptor_variant,,ENST00000600612,;ELMOD1,intron_variant,,ENST00000443271,;ELMOD1,intron_variant,,ENST00000531234,;ELMOD1,intron_variant,,ENST00000265840,;ELMOD1,splice_acceptor_variant,,ENST00000529675,;ELMOD1,intron_variant,,ENST00000524378,;ELMOD1,intron_variant,,ENST00000527036,;	.	93	67	SUCCESS
ATM	472	.	GRCh37	11	108114704	108114704	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	60	262	0	ENST00000278616.4:c.521T>G	p.Leu174Arg	p.L174R	ENST00000278616	NM_000051.3	174	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS31669.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTCTATC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	6/63	.	.	.	.	.	.	.	.	.	6/63	nonpreferredpair	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Leu174Arg,ENST00000278616,;ATM,missense_variant,p.Leu174Arg,ENST00000527805,;ATM,missense_variant,p.Leu174Arg,ENST00000452508,;ATM,missense_variant,p.Leu119Arg,ENST00000527891,;	906	262	254	SUCCESS
CCDC84	0	.	GRCh37	11	118869172	118869172	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	53	0	ENST00000334418.1:c.153T>G	p.Ala51=	p.A51=	ENST00000334418	NM_198489.1	51	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8405.1	153	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTCAGGT	NONE	.	.	hmmpanther:PTHR31198,Pfam_domain:PF14968	.	.	ENSP00000334767	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000334418	Transcript	.	.	ENSG00000186166	30460	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD84_HUMAN	CCDC84	HGNC	.	.	UPI0000192104	SNV	CCDC84,synonymous_variant,p.%3D,ENST00000334418,;RP11-110I1.12,upstream_gene_variant,,ENST00000526453,;RP11-110I1.12,upstream_gene_variant,,ENST00000582695,;RN7SL529P,downstream_gene_variant,,ENST00000467146,;CCDC84,upstream_gene_variant,,ENST00000580556,;CCDC84,synonymous_variant,p.%3D,ENST00000526463,;CCDC84,synonymous_variant,p.%3D,ENST00000532132,;CCDC84,non_coding_transcript_exon_variant,,ENST00000524670,;CCDC84,non_coding_transcript_exon_variant,,ENST00000534656,;RPL23AP64,downstream_gene_variant,,ENST00000469465,;	209	53	42	SUCCESS
OR5D18	219438	.	GRCh37	11	55587564	55587564	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	132	0	ENST00000333976.4:c.459A>T	p.Gly153=	p.G153=	ENST00000333976	NM_001001952.1	153	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31510.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGAGTCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	COSM390453	1/1	nonpreferredpair	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,synonymous_variant,p.%3D,ENST00000333976,;	479	132	141	SUCCESS
OR8K1	390157	.	GRCh37	11	56113645	56113645	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745473378	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	124	0	ENST00000279783.2:c.131C>A	p.Thr44Lys	p.T44K	ENST00000279783	NM_001002907.1	44	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31528.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCACAGTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	rs745473378	1/1	nonpreferredpair	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	deleterious_low_confidence(0)	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,missense_variant,p.Thr44Lys,ENST00000279783,;	225	124	112	SUCCESS
SHANK2	22941	.	GRCh37	11	70332701	70332701	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	65	0	ENST00000423696.2:c.2560G>A	p.Gly854Arg	p.G854R	ENST00000423696		854	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	.	3700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCCTGTT	NONE	.	.	hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	32/33	.	.	.	.	.	.	.	.	.	32/33	nonpreferredpair	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	tolerated(0.4)	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,missense_variant,p.Gly637Arg,ENST00000409161,;SHANK2,missense_variant,p.Gly512Arg,ENST00000424924,;SHANK2,missense_variant,p.Gly854Arg,ENST00000423696,;SHANK2,missense_variant,p.Gly857Arg,ENST00000294018,;SHANK2,missense_variant,p.Gly1234Arg,ENST00000338508,;SHANK2,missense_variant,p.Gly638Arg,ENST00000449833,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000449116,;	3700	65	75	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834659	125834659	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	64	0	ENST00000299308.3:c.714G>T	p.Trp238Cys	p.W238C	ENST00000299308	NM_052907.2	238	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS41859.1	714	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGGGAGAA	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	COSM3457897	2/9	nonpreferredpair	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.946)	.	tolerated(0.15)	1	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Trp238Cys,ENST00000299308,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,downstream_gene_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	722	64	51	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834660	125834660	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	63	0	ENST00000299308.3:c.715G>T	p.Glu239Ter	p.E239*	ENST00000299308	NM_052907.2	239	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41859.1	715	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGAGAAC	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,stop_gained,p.Glu239Ter,ENST00000299308,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,downstream_gene_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	723	63	51	SUCCESS
ITPR2	3709	.	GRCh37	12	26572000	26572000	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs375944693	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	85	0	ENST00000381340.3:c.7092A>C	p.Glu2364Asp	p.E2364D	ENST00000381340	NM_002223.2	2364	gaA/gaC	0	C:0.001	.	.	.	.	G	E/D	protein_coding	YES	CCDS41764.1	7092	MUTECT|MUSE	.	AAGAATTCATG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13715,Pfam_domain:PF00520	.	C:0	ENSP00000370744	.	50/57	.	.	.	.	.	.	.	.	rs375944693	50/57	nonpreferredpair	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.304)	.	tolerated(0.2)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Glu2364Asp,ENST00000381340,;RP11-513G19.1,intron_variant,,ENST00000535324,;ITPR2,3_prime_UTR_variant,,ENST00000451599,;ITPR2,non_coding_transcript_exon_variant,,ENST00000538984,;	7509	85	51	SUCCESS
LETMD1	25875	.	GRCh37	12	51442826	51442826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	76	0	ENST00000262055.4:c.132G>T	p.Lys44Asn	p.K44N	ENST00000262055	NM_015416.4	44	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS58231.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGCTTCA	NONE	.	.	hmmpanther:PTHR14009:SF10,hmmpanther:PTHR14009	.	.	ENSP00000389903	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000418425	Transcript	.	.	ENSG00000050426	24241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.08)	.	LTMD1_HUMAN	LETMD1	HGNC	F8VR35_HUMAN,F8VR33_HUMAN	.	UPI00001FC268	SNV	LETMD1,missense_variant,p.Lys11Asn,ENST00000551477,;LETMD1,missense_variant,p.Lys44Asn,ENST00000547008,;LETMD1,missense_variant,p.Lys44Asn,ENST00000550442,;LETMD1,missense_variant,p.Lys44Asn,ENST00000418425,;LETMD1,missense_variant,p.Lys44Asn,ENST00000548209,;LETMD1,missense_variant,p.Lys51Asn,ENST00000548401,;LETMD1,missense_variant,p.Lys44Asn,ENST00000548251,;LETMD1,missense_variant,p.Lys44Asn,ENST00000262055,;LETMD1,missense_variant,p.Lys44Asn,ENST00000380123,;LETMD1,missense_variant,p.Lys44Asn,ENST00000549340,;LETMD1,5_prime_UTR_variant,,ENST00000550814,;LETMD1,5_prime_UTR_variant,,ENST00000550929,;LETMD1,5_prime_UTR_variant,,ENST00000547660,;LETMD1,intron_variant,,ENST00000552739,;LETMD1,upstream_gene_variant,,ENST00000547256,;LETMD1,non_coding_transcript_exon_variant,,ENST00000552430,;LETMD1,non_coding_transcript_exon_variant,,ENST00000548516,;LETMD1,non_coding_transcript_exon_variant,,ENST00000550446,;LETMD1,non_coding_transcript_exon_variant,,ENST00000547029,;LETMD1,non_coding_transcript_exon_variant,,ENST00000553175,;LETMD1,missense_variant,p.Lys44Asn,ENST00000550100,;LETMD1,missense_variant,p.Lys44Asn,ENST00000380135,;LETMD1,missense_variant,p.Lys44Asn,ENST00000547318,;LETMD1,missense_variant,p.Lys44Asn,ENST00000551261,;LETMD1,3_prime_UTR_variant,,ENST00000547555,;LETMD1,5_prime_UTR_variant,,ENST00000550755,;LETMD1,non_coding_transcript_exon_variant,,ENST00000552645,;LETMD1,non_coding_transcript_exon_variant,,ENST00000546992,;LETMD1,non_coding_transcript_exon_variant,,ENST00000550715,;LETMD1,non_coding_transcript_exon_variant,,ENST00000547877,;LETMD1,non_coding_transcript_exon_variant,,ENST00000548390,;LETMD1,intron_variant,,ENST00000549686,;	151	76	65	SUCCESS
NXPH4	11247	.	GRCh37	12	57619424	57619424	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	66	0	ENST00000349394.5:c.821T>C	p.Phe274Ser	p.F274S	ENST00000349394	NM_007224.3	274	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS8933.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTTCAAAG	NONE	.	.	hmmpanther:PTHR17103:SF10,hmmpanther:PTHR17103,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000333593	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000349394	Transcript	.	.	ENSG00000182379	8078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NXPH4_HUMAN	NXPH4	HGNC	.	.	UPI000004C619	SNV	NXPH4,missense_variant,p.Phe274Ser,ENST00000349394,;SHMT2,upstream_gene_variant,,ENST00000414700,;SHMT2,upstream_gene_variant,,ENST00000554975,;SHMT2,upstream_gene_variant,,ENST00000557427,;SHMT2,upstream_gene_variant,,ENST00000557487,;SHMT2,upstream_gene_variant,,ENST00000393827,;SHMT2,upstream_gene_variant,,ENST00000553529,;SHMT2,upstream_gene_variant,,ENST00000328923,;SHMT2,upstream_gene_variant,,ENST00000449049,;SHMT2,upstream_gene_variant,,ENST00000554310,;SHMT2,upstream_gene_variant,,ENST00000555773,;SHMT2,upstream_gene_variant,,ENST00000556689,;SHMT2,upstream_gene_variant,,ENST00000557703,;SHMT2,upstream_gene_variant,,ENST00000553474,;SHMT2,upstream_gene_variant,,ENST00000555634,;Y_RNA,upstream_gene_variant,,ENST00000365197,;SHMT2,upstream_gene_variant,,ENST00000554600,;SHMT2,upstream_gene_variant,,ENST00000554656,;NXPH4,downstream_gene_variant,,ENST00000555154,;SHMT2,upstream_gene_variant,,ENST00000557740,;NXPH4,3_prime_UTR_variant,,ENST00000556415,;SHMT2,upstream_gene_variant,,ENST00000557302,;SHMT2,upstream_gene_variant,,ENST00000556825,;SHMT2,upstream_gene_variant,,ENST00000553950,;SHMT2,upstream_gene_variant,,ENST00000557269,;SHMT2,upstream_gene_variant,,ENST00000553837,;SHMT2,upstream_gene_variant,,ENST00000557433,;SHMT2,upstream_gene_variant,,ENST00000557348,;SHMT2,upstream_gene_variant,,ENST00000555563,;SHMT2,upstream_gene_variant,,ENST00000555774,;SHMT2,upstream_gene_variant,,ENST00000555116,;SHMT2,upstream_gene_variant,,ENST00000554604,;SHMT2,upstream_gene_variant,,ENST00000554467,;SHMT2,upstream_gene_variant,,ENST00000553324,;	996	66	49	SUCCESS
METTL21B	0	.	GRCh37	12	58174205	58174205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	69	0	ENST00000300209.8:c.457G>T	p.Val153Leu	p.V153L	ENST00000300209	NM_015433.2	153	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS8957.1	457	MUTECT|MUSE	.	ATATCGTGTAC	NONE	.	.	hmmpanther:PTHR14614:SF5,hmmpanther:PTHR14614,Pfam_domain:PF10294,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000300209	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000300209	Transcript	.	.	ENSG00000123427	24936	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MT21B_HUMAN	METTL21B	HGNC	F8W226_HUMAN	.	UPI000006CEB5	SNV	METTL21B,missense_variant,p.Val153Leu,ENST00000300209,;METTL21B,5_prime_UTR_variant,,ENST00000551420,;METTL21B,3_prime_UTR_variant,,ENST00000548256,;METTL21B,3_prime_UTR_variant,,ENST00000333012,;RP11-571M6.15,intron_variant,,ENST00000546504,;TSFM,upstream_gene_variant,,ENST00000457189,;TSFM,upstream_gene_variant,,ENST00000543727,;TSFM,upstream_gene_variant,,ENST00000323833,;TSFM,upstream_gene_variant,,ENST00000540550,;TSFM,upstream_gene_variant,,ENST00000548851,;TSFM,upstream_gene_variant,,ENST00000434359,;TSFM,upstream_gene_variant,,ENST00000350762,;TSFM,upstream_gene_variant,,ENST00000550559,;TSFM,upstream_gene_variant,,ENST00000454289,;RP11-571M6.15,intron_variant,,ENST00000553083,;TSFM,upstream_gene_variant,,ENST00000497617,;RP11-571M6.15,intron_variant,,ENST00000471530,;TSFM,upstream_gene_variant,,ENST00000417094,;	582	69	47	SUCCESS
LPCAT3	10162	.	GRCh37	12	7125774	7125774	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs781931936	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	36	0	ENST00000261407.4:c.-46G>C		p.*16*	ENST00000261407	NM_005768.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8572.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCGAATG	NONE	.	.	.	.	.	ENSP00000261407	.	1/13	.	.	.	.	.	.	.	.	rs781931936	1/13	nonpreferredpair	ENST00000261407	Transcript	.	.	ENSG00000111684	30244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBOA5_HUMAN	LPCAT3	HGNC	F5H0M4_HUMAN	.	UPI0000034DFC	SNV	LPCAT3,5_prime_UTR_variant,,ENST00000261407,;C1S,intron_variant,,ENST00000406697,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000536971,;LPCAT3,5_prime_UTR_variant,,ENST00000538910,;LPCAT3,5_prime_UTR_variant,,ENST00000540090,;LPCAT3,5_prime_UTR_variant,,ENST00000535479,;LPCAT3,5_prime_UTR_variant,,ENST00000543794,;LPCAT3,5_prime_UTR_variant,,ENST00000536797,;	41	36	34	SUCCESS
ITGBL1	9358	.	GRCh37	13	102345029	102345029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	128	0	ENST00000376180.3:c.1110C>A	p.Asp370Glu	p.D370E	ENST00000376180	NM_004791.2	370	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9499.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACCTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF3,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000365351	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000376180	Transcript	.	.	ENSG00000198542	6164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.1)	.	ITGBL_HUMAN	ITGBL1	HGNC	B3KTP1_HUMAN	.	UPI0000073C95	SNV	ITGBL1,missense_variant,p.Asp277Glu,ENST00000376162,;ITGBL1,missense_variant,p.Asp84Glu,ENST00000490242,;ITGBL1,missense_variant,p.Asp370Glu,ENST00000376180,;ITGBL1,missense_variant,p.Asp229Glu,ENST00000545560,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000474233,;	1329	128	95	SUCCESS
IRS2	8660	.	GRCh37	13	110436226	110436226	+	synonymous_variant	Silent	SNP	G	G	A	rs781154356	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	20	0	ENST00000375856.3:c.2175C>T	p.Gly725=	p.G725=	ENST00000375856	NM_003749.2	725	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9510.1	2175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCGCCCCC	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	rs781154356	1/2	nonpreferredpair	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,synonymous_variant,p.%3D,ENST00000375856,;	2690	20	18	SUCCESS
ATP7B	540	.	GRCh37	13	52542657	52542657	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs766906034	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	112	0	ENST00000242839.4:c.1630C>G	p.Gln544Glu	p.Q544E	ENST00000242839	NM_000053.3	544	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS41892.1	1630	MUTECT|MUSE|VARSCANS	.	GAACTGAGCTA	NONE	byFrequency	.	PROSITE_profiles:PS50846,hmmpanther:PTHR24093:SF239,hmmpanther:PTHR24093,Pfam_domain:PF00403,Gene3D:3.30.70.100,TIGRFAM_domain:TIGR00003,Superfamily_domains:SSF55008,Prints_domain:PR00942	.	.	ENSP00000242839	.	4/21	.	.	.	.	.	.	.	.	rs766906034,CM970137	4/21	nonpreferredpair	ENST00000242839	Transcript	.	.	ENSG00000123191	870	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.038)	.	tolerated(0.86)	.	ATP7B_HUMAN	ATP7B	HGNC	G1FFF2_HUMAN,D3KCZ0_HUMAN,C8BMD5_HUMAN,A6YQZ1_HUMAN	.	UPI00001FCE15	SNV	ATP7B,missense_variant,p.Gln544Glu,ENST00000418097,;ATP7B,missense_variant,p.Gln544Glu,ENST00000344297,;ATP7B,missense_variant,p.Gln544Glu,ENST00000242839,;ATP7B,missense_variant,p.Gln433Glu,ENST00000400366,;ATP7B,missense_variant,p.Gln544Glu,ENST00000448424,;ATP7B,intron_variant,,ENST00000400370,;ATP7B,intron_variant,,ENST00000542656,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,non_coding_transcript_exon_variant,,ENST00000483772,;FABP5P2,downstream_gene_variant,,ENST00000439042,;	1787	112	89	SUCCESS
OR4M1	441670	.	GRCh37	14	20248815	20248815	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	23	235	0	ENST00000315957.4:c.334A>G	p.Met112Val	p.M112V	ENST00000315957	NM_001005500.1	112	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS32021.1	334	RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGATGTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000319654	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000315957	Transcript	.	.	ENSG00000176299	14735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.5)	.	OR4M1_HUMAN	OR4M1	HGNC	.	.	UPI0000061F0F	SNV	OR4M1,missense_variant,p.Met112Val,ENST00000315957,;OR4N2,intron_variant,,ENST00000557414,;	415	235	197	SUCCESS
TMEM63C	57156	.	GRCh37	14	77705090	77705090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	139	0	ENST00000298351.4:c.705A>T	p.Glu235Asp	p.E235D	ENST00000298351	NM_020431.2	235	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45141.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAACTCAT	NONE	.	.	hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018	.	.	ENSP00000298351	.	10/24	.	.	.	.	.	.	.	.	.	10/24	nonpreferredpair	ENST00000298351	Transcript	.	.	ENSG00000165548	23787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.09)	.	TM63C_HUMAN	TMEM63C	HGNC	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN	.	UPI0000049C5C	SNV	TMEM63C,missense_variant,p.Glu235Asp,ENST00000298351,;	849	139	106	SUCCESS
MAPK6	5597	.	GRCh37	15	52356857	52356857	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766643187	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	333	21	320	0	ENST00000261845.5:c.1826A>G	p.Gln609Arg	p.Q609R	ENST00000261845	NM_002748.3	609	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS10147.1	1826	MUTECT|MUSE	.	AAATCAGTTTT	NONE	byFrequency	.	.	.	.	ENSP00000261845	.	6/6	.	.	.	.	.	.	.	.	rs766643187	6/6	nonpreferredpair	ENST00000261845	Transcript	.	.	ENSG00000069956	6879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.115)	.	deleterious_low_confidence(0.02)	.	MK06_HUMAN	MAPK6	HGNC	.	.	UPI000012F177	SNV	MAPK6,missense_variant,p.Gln609Arg,ENST00000261845,;CTD-2184D3.5,intron_variant,,ENST00000558607,;	2633	320	355	SUCCESS
VPS13C	54832	.	GRCh37	15	62146685	62146685	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	105	0	ENST00000261517.5:c.11233A>C	p.Arg3745=	p.R3745=	ENST00000261517	NM_020821.2	3745	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS32257.1	11233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCTCACTG	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	85/85	.	.	.	.	.	.	.	.	.	85/85	nonpreferredpair	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,synonymous_variant,p.%3D,ENST00000261517,;VPS13C,synonymous_variant,p.%3D,ENST00000249837,;RP11-16B9.1,downstream_gene_variant,,ENST00000559251,;VPS13C,non_coding_transcript_exon_variant,,ENST00000559119,;VPS13C,non_coding_transcript_exon_variant,,ENST00000560637,;	11307	105	95	SUCCESS
AKAP13	11214	.	GRCh37	15	86273887	86273887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	75	0	ENST00000394518.2:c.7231A>G	p.Thr2411Ala	p.T2411A	ENST00000394518	NM_007200.4	2411	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS32320.1	7243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACACAGAA	NONE	.	.	hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	30/37	.	.	.	.	.	.	.	.	.	30/37	nonpreferredpair	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.07)	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,missense_variant,p.Thr2411Ala,ENST00000394518,;AKAP13,missense_variant,p.Thr2415Ala,ENST00000361243,;AKAP13,missense_variant,p.Thr656Ala,ENST00000394510,;RP11-158M2.2,upstream_gene_variant,,ENST00000561417,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560579,;AKAP13,downstream_gene_variant,,ENST00000560676,;AKAP13,upstream_gene_variant,,ENST00000559391,;AKAP13,downstream_gene_variant,,ENST00000558644,;	7324	75	69	SUCCESS
MFGE8	4240	.	GRCh37	15	89443027	89443027	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	90	0	ENST00000268150.8:c.886T>A	p.Ser296Thr	p.S296T	ENST00000268150	NM_005928.2	296	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS10347.1	886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGAGGAGC	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00231,Pfam_domain:PF00754,Gene3D:2.60.120.260,PROSITE_patterns:PS01285,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,PROSITE_profiles:PS50022	.	.	ENSP00000268150	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000268150	Transcript	.	.	ENSG00000140545	7036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.66)	.	MFGM_HUMAN	MFGE8	HGNC	.	.	UPI000013D7A3	SNV	MFGE8,missense_variant,p.Ser252Thr,ENST00000542878,;MFGE8,missense_variant,p.Ser296Thr,ENST00000566497,;MFGE8,missense_variant,p.Ser288Thr,ENST00000539437,;MFGE8,missense_variant,p.Ser296Thr,ENST00000268150,;MFGE8,intron_variant,,ENST00000268151,;HAPLN3,upstream_gene_variant,,ENST00000562281,;HAPLN3,upstream_gene_variant,,ENST00000359595,;MFGE8,downstream_gene_variant,,ENST00000558029,;HAPLN3,upstream_gene_variant,,ENST00000562889,;MFGE8,downstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,;MFGE8,non_coding_transcript_exon_variant,,ENST00000560937,;HAPLN3,upstream_gene_variant,,ENST00000558770,;HAPLN3,upstream_gene_variant,,ENST00000563808,;	978	90	88	SUCCESS
BLM	641	.	GRCh37	15	91347543	91347543	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	39	163	0	ENST00000355112.3:c.3705C>A	p.Val1235=	p.V1235=	ENST00000355112	NM_000057.2	1235	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10363.1	3705	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCCATTA	NONE	.	.	PROSITE_profiles:PS50967,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF70,Gene3D:1.10.150.80,Pfam_domain:PF00570,SMART_domains:SM00341,Superfamily_domains:SSF47819	.	.	ENSP00000347232	.	19/22	.	.	.	.	.	.	.	.	.	19/22	nonpreferredpair	ENST00000355112	Transcript	1	.	ENSG00000197299	1058	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BLM_HUMAN	BLM	HGNC	.	.	UPI00001269FA	SNV	BLM,synonymous_variant,p.%3D,ENST00000355112,;BLM,intron_variant,,ENST00000560509,;BLM,non_coding_transcript_exon_variant,,ENST00000560136,;BLM,upstream_gene_variant,,ENST00000560821,;BLM,3_prime_UTR_variant,,ENST00000559724,;BLM,non_coding_transcript_exon_variant,,ENST00000558825,;	3823	163	178	SUCCESS
MAN2A2	4122	.	GRCh37	15	91448631	91448631	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	53	0	ENST00000360468.3:c.283A>G	p.Asn95Asp	p.N95D	ENST00000360468	NM_006122.2	95	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS32332.1	283	MUTECT|MUSE|VARSCANS	.	CGGTCAATGGC	NONE	.	.	hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	2/22	.	.	.	.	.	.	.	.	.	2/22	nonpreferredpair	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	tolerated(0.15)	.	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Asn95Asp,ENST00000360468,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000559999,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000559717,;MAN2A2,missense_variant,p.Asn9Asp,ENST00000559132,;MAN2A2,upstream_gene_variant,,ENST00000557865,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,upstream_gene_variant,,ENST00000560616,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,upstream_gene_variant,,ENST00000431652,;MAN2A2,upstream_gene_variant,,ENST00000558640,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000558161,;MAN2A2,missense_variant,p.Asn95Asp,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,upstream_gene_variant,,ENST00000561046,;	301	53	60	SUCCESS
KIAA0430	0	.	GRCh37	16	15727524	15727524	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	109	0	ENST00000396368.3:c.1183G>A	p.Asp395Asn	p.D395N	ENST00000396368	NM_001184998.1	395	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10562.2	1183	RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCACATA	NONE	.	.	Gene3D:3.40.50.1010,Pfam_domain:PF01936,hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379	.	.	ENSP00000379654	.	5/27	.	.	.	.	.	.	.	.	.	5/27	nonpreferredpair	ENST00000396368	Transcript	.	.	ENSG00000166783	29562	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.839)	.	deleterious(0)	.	MARF1_HUMAN	KIAA0430	HGNC	F8VRS5_HUMAN	.	UPI00006881BC	SNV	KIAA0430,missense_variant,p.Asp395Asn,ENST00000551742,;KIAA0430,missense_variant,p.Asp392Asn,ENST00000602337,;KIAA0430,missense_variant,p.Asp395Asn,ENST00000540441,;KIAA0430,missense_variant,p.Asp217Asn,ENST00000344181,;KIAA0430,missense_variant,p.Asp392Asn,ENST00000548025,;KIAA0430,missense_variant,p.Asp395Asn,ENST00000396368,;KIAA0430,downstream_gene_variant,,ENST00000549219,;KIAA0430,missense_variant,p.Asp395Asn,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000548216,;	1390	109	72	SUCCESS
ALDOA	226	.	GRCh37	16	30080632	30080632	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	67	0	ENST00000338110.5:c.546C>T	p.Gly182=	p.G182=	ENST00000338110	NM_000034.3	182	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS58450.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCATTGT	NONE	.	.	hmmpanther:PTHR11627,Pfam_domain:PF00274,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	.	.	ENSP00000378669	.	13/16	.	.	.	.	.	.	.	.	.	13/16	nonpreferredpair	ENST00000395248	Transcript	.	.	ENSG00000149925	414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALDOA_HUMAN	ALDOA	HGNC	H3BUH7_HUMAN,H3BPS8_HUMAN,A4UCS9_HUMAN	.	UPI0000E59D76	SNV	ALDOA,synonymous_variant,p.%3D,ENST00000569545,;ALDOA,synonymous_variant,p.%3D,ENST00000412304,;ALDOA,synonymous_variant,p.%3D,ENST00000564595,;ALDOA,synonymous_variant,p.%3D,ENST00000562679,;ALDOA,synonymous_variant,p.%3D,ENST00000395240,;ALDOA,synonymous_variant,p.%3D,ENST00000395248,;ALDOA,synonymous_variant,p.%3D,ENST00000564546,;ALDOA,synonymous_variant,p.%3D,ENST00000569798,;ALDOA,synonymous_variant,p.%3D,ENST00000338110,;ALDOA,synonymous_variant,p.%3D,ENST00000566897,;ALDOA,synonymous_variant,p.%3D,ENST00000563060,;ALDOA,intron_variant,,ENST00000564688,;ALDOA,upstream_gene_variant,,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000566846,;ALDOA,downstream_gene_variant,,ENST00000563987,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,downstream_gene_variant,,ENST00000562168,;ALDOA,downstream_gene_variant,,ENST00000566012,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566130,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566146,;ALDOA,downstream_gene_variant,,ENST00000567555,;ALDOA,downstream_gene_variant,,ENST00000562302,;	1690	67	59	SUCCESS
SLC5A2	6524	.	GRCh37	16	31500328	31500328	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1451134374	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	18	0	ENST00000330498.3:c.1408G>A	p.Val470Ile	p.V470I	ENST00000330498	NM_003041.3	470	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10714.1	1408	MUTECT|MUSE	.	CCGCCGTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF95,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000327943	.	11/14	.	.	.	.	.	.	.	.	.	11/14	nonpreferredpair	ENST00000330498	Transcript	.	.	ENSG00000140675	11037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.18)	.	SC5A2_HUMAN	SLC5A2	HGNC	H3BP44_HUMAN	.	UPI000004D0A0	SNV	SLC5A2,missense_variant,p.Val470Ile,ENST00000330498,;C16orf58,downstream_gene_variant,,ENST00000430477,;SLC5A2,downstream_gene_variant,,ENST00000569576,;C16orf58,downstream_gene_variant,,ENST00000567994,;C16orf58,downstream_gene_variant,,ENST00000327237,;C16orf58,downstream_gene_variant,,ENST00000570164,;AC026471.6,upstream_gene_variant,,ENST00000565137,;SLC5A2,upstream_gene_variant,,ENST00000567051,;SLC5A2,upstream_gene_variant,,ENST00000564197,;SLC5A2,non_coding_transcript_exon_variant,,ENST00000568188,;SLC5A2,intron_variant,,ENST00000568891,;SLC5A2,intron_variant,,ENST00000419665,;C16orf58,downstream_gene_variant,,ENST00000568491,;SLC5A2,downstream_gene_variant,,ENST00000562006,;C16orf58,downstream_gene_variant,,ENST00000567578,;C16orf58,downstream_gene_variant,,ENST00000541442,;C16orf58,downstream_gene_variant,,ENST00000565128,;SLC5A2,downstream_gene_variant,,ENST00000565446,;C16orf58,downstream_gene_variant,,ENST00000567673,;	1427	18	34	SUCCESS
C16orf96	342346	.	GRCh37	16	4606653	4606653	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	66	0	ENST00000444310.4:c.163A>G	p.Thr55Ala	p.T55A	ENST00000444310	NM_001145011.1	55	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS53986.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGACCTCG	NONE	.	.	.	.	.	ENSP00000415027	.	1/16	.	.	.	.	.	.	.	.	.	1/16	nonpreferredpair	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	tolerated(0.27)	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,missense_variant,p.Thr55Ala,ENST00000444310,;RP11-709D24.5,downstream_gene_variant,,ENST00000563704,;	163	66	42	SUCCESS
CHST5	23563	.	GRCh37	16	75565414	75565414	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	32	211	0	ENST00000336257.3:c.-1132C>T		p.*378*	ENST00000336257	NM_024533.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10919.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGAGCCC	NONE	.	.	.	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,5_prime_UTR_variant,,ENST00000336257,;CHST5,intron_variant,,ENST00000565039,;CHST5,intron_variant,,ENST00000541075,;RP11-77K12.7,intron_variant,,ENST00000460606,;	264	211	188	SUCCESS
ZNF469	84627	.	GRCh37	16	88502140	88502140	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	85	0	ENST00000437464.1:c.8178G>A	p.Gly2726=	p.G2726=	ENST00000437464	NM_001127464.1	2726	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45544.1	8178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGTTCTG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,synonymous_variant,p.%3D,ENST00000565624,;ZNF469,synonymous_variant,p.%3D,ENST00000437464,;	8178	85	63	SUCCESS
CDH15	1013	.	GRCh37	16	89258218	89258218	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1419856684	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	52	0	ENST00000289746.2:c.1531C>T	p.Pro511Ser	p.P511S	ENST00000289746	NM_004933.2	511	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10976.1	1531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCCCCCC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000289746	.	10/14	.	.	.	.	.	.	.	.	rs776446846	10/14	nonpreferredpair	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	tolerated(0.31)	.	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	SNV	CDH15,missense_variant,p.Pro511Ser,ENST00000289746,;SLC22A31,downstream_gene_variant,,ENST00000562855,;SLC22A31,downstream_gene_variant,,ENST00000562916,;SLC22A31,downstream_gene_variant,,ENST00000563595,;	1596	52	43	SUCCESS
DRG2	1819	.	GRCh37	17	17991304	17991304	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	36	0	ENST00000225729.3:c.-34C>T		p.*12*	ENST00000225729	NM_001388.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11191.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCACCGC	NONE	.	.	.	.	.	ENSP00000225729	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000225729	Transcript	.	.	ENSG00000108591	3030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRG2_HUMAN	DRG2	HGNC	.	.	UPI000012987D	SNV	DRG2,5_prime_UTR_variant,,ENST00000580929,;DRG2,5_prime_UTR_variant,,ENST00000579601,;DRG2,5_prime_UTR_variant,,ENST00000225729,;DRG2,5_prime_UTR_variant,,ENST00000395726,;DRG2,upstream_gene_variant,,ENST00000583355,;DRG2,5_prime_UTR_variant,,ENST00000582419,;DRG2,5_prime_UTR_variant,,ENST00000577450,;DRG2,5_prime_UTR_variant,,ENST00000467099,;DRG2,5_prime_UTR_variant,,ENST00000496428,;DRG2,5_prime_UTR_variant,,ENST00000582314,;DRG2,5_prime_UTR_variant,,ENST00000580055,;DRG2,5_prime_UTR_variant,,ENST00000579224,;DRG2,non_coding_transcript_exon_variant,,ENST00000578173,;DRG2,non_coding_transcript_exon_variant,,ENST00000583162,;DRG2,non_coding_transcript_exon_variant,,ENST00000584212,;DRG2,non_coding_transcript_exon_variant,,ENST00000577771,;DRG2,non_coding_transcript_exon_variant,,ENST00000473213,;DRG2,non_coding_transcript_exon_variant,,ENST00000578767,;	105	36	32	SUCCESS
SMG6	23293	.	GRCh37	17	2200545	2200545	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752531928	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	105	1	ENST00000263073.6:c.2143C>T	p.Arg715Cys	p.R715C	ENST00000263073	NM_017575.4	715	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11016.1	2143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGTAATG	NONE	byFrequency	.	hmmpanther:PTHR13548:SF1,hmmpanther:PTHR13548,Pfam_domain:PF10374,Superfamily_domains:SSF48452	.	.	ENSP00000263073	.	4/19	.	.	.	.	.	.	.	.	rs752531928	4/19	nonpreferredpair	ENST00000263073	Transcript	.	.	ENSG00000070366	17809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	EST1A_HUMAN	SMG6	HGNC	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN	.	UPI00002005C8	SNV	SMG6,missense_variant,p.Arg684Cys,ENST00000544865,;SMG6,missense_variant,p.Arg715Cys,ENST00000263073,;	2194	106	70	SUCCESS
FAM101B	0	.	GRCh37	17	293163	293163	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs550861769	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	52	0	ENST00000329099.4:c.227G>A	p.Arg76His	p.R76H	ENST00000329099	NM_182705.2	76	cGc/cAc	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	.	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGCGCCAC	NONE	by1000G	.	hmmpanther:PTHR31848:SF2,hmmpanther:PTHR31848,Pfam_domain:PF15068	T:0	.	ENSP00000331915	T:0	2/2	.	.	.	.	.	.	.	.	rs550861769	2/2	nonpreferredpair	ENST00000329099	Transcript	.	T:0.0002	ENSG00000183688	28705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	T:0.001	deleterious(0.05)	.	F101B_HUMAN	FAM101B	HGNC	.	.	UPI00001AF949	SNV	FAM101B,missense_variant,p.Arg76His,ENST00000329099,;	227	52	64	SUCCESS
SNX11	29916	.	GRCh37	17	46196421	46196421	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	55	0	ENST00000359238.2:c.412T>A	p.Cys138Ser	p.C138S	ENST00000359238	NM_013323.2	138	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS11526.1	412	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTGTGTC	NONE	.	.	hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF36	.	.	ENSP00000377059	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000393405	Transcript	.	.	ENSG00000002919	14975	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	SNX11_HUMAN	SNX11	HGNC	J3QRB9_HUMAN,J3QLV8_HUMAN,J3KTN6_HUMAN,B4DJI7_HUMAN	.	UPI000003E7DA	SNV	SNX11,missense_variant,p.Cys138Ser,ENST00000393405,;SNX11,missense_variant,p.Cys130Ser,ENST00000582104,;SNX11,missense_variant,p.Cys77Ser,ENST00000439357,;SNX11,missense_variant,p.Cys138Ser,ENST00000582481,;SNX11,missense_variant,p.Cys138Ser,ENST00000581298,;SNX11,missense_variant,p.Cys138Ser,ENST00000584335,;SNX11,missense_variant,p.Cys138Ser,ENST00000359238,;SNX11,missense_variant,p.Cys130Ser,ENST00000580219,;SNX11,5_prime_UTR_variant,,ENST00000452859,;SNX11,downstream_gene_variant,,ENST00000578861,;SNX11,3_prime_UTR_variant,,ENST00000581705,;SNX11,3_prime_UTR_variant,,ENST00000583320,;	766	55	51	SUCCESS
SUPT4H1	6827	.	GRCh37	17	56423671	56423671	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	51	0	ENST00000225504.3:c.290T>A	p.Ile97Asn	p.I97N	ENST00000225504	NM_003168.2	97	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS11606.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGATTCCT	NONE	.	.	hmmpanther:PTHR12882,hmmpanther:PTHR12882:SF0,PIRSF_domain:PIRSF025023	.	.	ENSP00000225504	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000225504	Transcript	.	.	ENSG00000213246	11467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.475)	.	deleterious(0)	.	SPT4H_HUMAN	SUPT4H1	HGNC	J3QR04_HUMAN,D3DTZ5_HUMAN	.	UPI0000021936	SNV	SUPT4H1,missense_variant,p.Ile56Asn,ENST00000577396,;SUPT4H1,missense_variant,p.Ile97Asn,ENST00000580947,;SUPT4H1,missense_variant,p.Ile88Asn,ENST00000581540,;SUPT4H1,missense_variant,p.Ile97Asn,ENST00000225504,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000580022,;BZRAP1-AS1,intron_variant,,ENST00000582348,;BZRAP1-AS1,intron_variant,,ENST00000578334,;BZRAP1-AS1,intron_variant,,ENST00000585236,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,intron_variant,,ENST00000583826,;BZRAP1-AS1,intron_variant,,ENST00000580515,;BZRAP1-AS1,intron_variant,,ENST00000580633,;BZRAP1-AS1,intron_variant,,ENST00000579527,;BZRAP1-AS1,intron_variant,,ENST00000579859,;BZRAP1-AS1,intron_variant,,ENST00000578025,;SUPT4H1,3_prime_UTR_variant,,ENST00000581166,;SUPT4H1,non_coding_transcript_exon_variant,,ENST00000581204,;SUPT4H1,downstream_gene_variant,,ENST00000579289,;	357	51	48	SUCCESS
AMZ2	51321	.	GRCh37	17	66252013	66252013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	49	0	ENST00000359904.3:c.923A>G	p.Tyr308Cys	p.Y308C	ENST00000359904	NM_016627.4	308	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11674.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATACAAAG	NONE	.	.	hmmpanther:PTHR32205:SF5,hmmpanther:PTHR32205	.	.	ENSP00000352976	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000359904	Transcript	.	.	ENSG00000196704	28041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.01)	.	AMZ2_HUMAN	AMZ2	HGNC	J3QLK6_HUMAN,J3KSH1_HUMAN,J3KS38_HUMAN,J3KRD0_HUMAN	.	UPI0000366C52	SNV	AMZ2,missense_variant,p.Tyr308Cys,ENST00000580753,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000359904,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000392720,;AMZ2,missense_variant,p.Tyr250Cys,ENST00000359783,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000577985,;AMZ2,missense_variant,p.Tyr308Cys,ENST00000577866,;AMZ2,intron_variant,,ENST00000577273,;AMZ2,downstream_gene_variant,,ENST00000579724,;ARSG,upstream_gene_variant,,ENST00000448504,;AMZ2,downstream_gene_variant,,ENST00000584494,;AMZ2,downstream_gene_variant,,ENST00000580548,;AMZ2,downstream_gene_variant,,ENST00000584837,;AMZ2,downstream_gene_variant,,ENST00000580837,;AMZ2,intron_variant,,ENST00000585050,;AMZ2,intron_variant,,ENST00000581779,;ARSG,upstream_gene_variant,,ENST00000578726,;AMZ2,downstream_gene_variant,,ENST00000582430,;AMZ2,3_prime_UTR_variant,,ENST00000584350,;AMZ2,intron_variant,,ENST00000578175,;AMZ2,downstream_gene_variant,,ENST00000584836,;	2055	49	39	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79428710	79428710	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782091307	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	136	0	ENST00000307745.7:c.7021G>A	p.Asp2341Asn	p.D2341N	ENST00000307745		2341	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	7021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGACAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	30/32	.	.	.	.	.	.	.	.	rs782091307	30/32	nonpreferredpair	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Asp2253Asn,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Asp2341Asn,ENST00000307745,;RP11-1055B8.8,non_coding_transcript_exon_variant,,ENST00000572590,;RP11-1055B8.7,downstream_gene_variant,,ENST00000576071,;RP11-1055B8.7,upstream_gene_variant,,ENST00000571612,;RP11-1055B8.7,downstream_gene_variant,,ENST00000576039,;	7021	136	120	SUCCESS
FASN	2194	.	GRCh37	17	80039092	80039092	+	synonymous_variant	Silent	SNP	T	T	C	rs1265273432	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	84	0	ENST00000306749.2:c.6543A>G	p.Gln2181=	p.Q2181=	ENST00000306749	NM_004104.4	2181	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS11801.1	6543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGTTGCCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00550,Gene3D:1.10.1200.10,SMART_domains:SM00823,Superfamily_domains:SSF47336	.	.	ENSP00000304592	.	38/43	.	.	.	.	.	.	.	.	.	38/43	nonpreferredpair	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	6762	84	70	SUCCESS
FASN	2194	.	GRCh37	17	80050583	80050583	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	45	0	ENST00000306749.2:c.884C>T	p.Thr295Ile	p.T295I	ENST00000306749	NM_004104.4	295	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11801.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGTGCCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	7/43	.	.	.	.	.	.	.	.	.	7/43	nonpreferredpair	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Thr295Ile,ENST00000306749,;	1103	45	23	SUCCESS
ZNF519	162655	.	GRCh37	18	14105460	14105460	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759020763	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	41	0	ENST00000590202.1:c.1079G>A	p.Gly360Glu	p.G360E	ENST00000590202	NM_145287.3	360	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS32797.1	1079	MUTECT|MUSE	.	ATGACCCCCTG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF97,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000464872	.	3/3	.	.	.	.	.	.	.	.	rs759020763	3/3	nonpreferredpair	ENST00000590202	Transcript	.	.	ENSG00000175322	30574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	tolerated(0.22)	.	ZN519_HUMAN	ZNF519	HGNC	.	.	UPI0000201A41	SNV	ZNF519,missense_variant,p.Gly360Glu,ENST00000590202,;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,intron_variant,,ENST00000587419,;	1232	41	31	SUCCESS
ATP8B3	148229	.	GRCh37	19	1796715	1796715	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371318224	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	67	0	ENST00000310127.6:c.1748G>A	p.Arg583His	p.R583H	ENST00000310127	NM_138813.3	583	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS45901.1	1748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGCTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Superfamily_domains:SSF81660	.	T:0.0001	ENSP00000311336	.	16/29	.	.	.	.	.	.	.	.	rs371318224	16/29	nonpreferredpair	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.05)	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,missense_variant,p.Arg583His,ENST00000310127,;ATP8B3,missense_variant,p.Arg583His,ENST00000539485,;ATP8B3,missense_variant,p.Arg536His,ENST00000525591,;ATP8B3,downstream_gene_variant,,ENST00000526092,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000533107,;	1987	67	80	SUCCESS
ZFP14	57677	.	GRCh37	19	36831783	36831783	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	62	0	ENST00000270001.7:c.945G>A	p.Lys315=	p.K315=	ENST00000270001	NM_020917.2	315	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS33002.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCTTACA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF253,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000270001	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000270001	Transcript	.	.	ENSG00000142065	29312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP14_HUMAN	ZFP14	HGNC	.	.	UPI000013AD55	SNV	ZFP14,synonymous_variant,p.%3D,ENST00000270001,;	1061	62	64	SUCCESS
PSG11	5680	.	GRCh37	19	43529163	43529163	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1058223	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	48	163	0	ENST00000320078.7:c.110T>C	p.Met37Thr	p.M37T	ENST00000320078	NM_002785.2	37	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS12614.2	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCATGACT	NONE	byFrequency|suspect|byCluster	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF108	.	.	ENSP00000384995	.	2/6	.	.	.	.	.	.	.	.	rs1058223	2/6	nonpreferredpair	ENST00000401740	Transcript	.	.	ENSG00000243130	9516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	PSG11_HUMAN	PSG11	HGNC	.	.	UPI000004EE8C	SNV	PSG11,missense_variant,p.Met37Thr,ENST00000401740,;PSG11,missense_variant,p.Met37Thr,ENST00000598133,;PSG11,missense_variant,p.Met37Thr,ENST00000320078,;PSG11,intron_variant,,ENST00000306322,;PSG11,intron_variant,,ENST00000403486,;PSG11,start_lost,p.Met1?,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000595138,;PSG11,non_coding_transcript_exon_variant,,ENST00000594655,;PSG11,non_coding_transcript_exon_variant,,ENST00000599245,;PSG11,intron_variant,,ENST00000488205,;PSG11,upstream_gene_variant,,ENST00000597093,;	214	163	222	SUCCESS
BCL3	602	.	GRCh37	19	45260419	45260419	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763828094	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	52	0	ENST00000164227.5:c.665G>A	p.Arg222Gln	p.R222Q	ENST00000164227	NM_005178.4	222	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12642.2	665	RADIA|MUTECT|MUSE	.	CCTGCGAGCCC	NONE	byFrequency	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24118:SF44,hmmpanther:PTHR24118,PROSITE_profiles:PS50297	.	.	ENSP00000164227	.	4/9	.	.	.	.	.	.	.	.	rs763828094	4/9	nonpreferredpair	ENST00000164227	Transcript	.	.	ENSG00000069399	998	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.27)	.	BCL3_HUMAN	BCL3	HGNC	.	.	UPI0000D4AF29	SNV	BCL3,missense_variant,p.Arg222Gln,ENST00000164227,;BCL3,missense_variant,p.Arg106Gln,ENST00000444487,;BCL3,non_coding_transcript_exon_variant,,ENST00000473468,;BCL3,non_coding_transcript_exon_variant,,ENST00000464319,;BCL3,non_coding_transcript_exon_variant,,ENST00000403534,;BCL3,upstream_gene_variant,,ENST00000473473,;BCL3,upstream_gene_variant,,ENST00000474300,;BCL3,upstream_gene_variant,,ENST00000477832,;	909	52	47	SUCCESS
GRIN2D	2906	.	GRCh37	19	48945414	48945414	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	44	0	ENST00000263269.3:c.2448C>T	p.Ile816=	p.I816=	ENST00000263269	NM_000836.2	816	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12719.1	2448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCGAGAT	NONE	.	.	hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000263269	.	12/13	.	.	.	.	.	.	.	.	COSM281558	12/13	nonpreferredpair	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,synonymous_variant,p.%3D,ENST00000263269,;GRWD1,upstream_gene_variant,,ENST00000253237,;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,;	2536	44	43	SUCCESS
MYBPC2	4606	.	GRCh37	19	50958840	50958840	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	59	0	ENST00000357701.5:c.2277T>C	p.Pro759=	p.P759=	ENST00000357701	NM_004533.3	759	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS46152.1	2277	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTCCGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014	.	.	ENSP00000350332	.	20/28	.	.	.	.	.	.	.	.	.	20/28	nonpreferredpair	ENST00000357701	Transcript	.	.	ENSG00000086967	7550	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,synonymous_variant,p.%3D,ENST00000357701,;	2328	59	51	SUCCESS
ADAMTS10	81794	.	GRCh37	19	8651245	8651245	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1389991838	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	35	114	0	ENST00000597188.1:c.2513C>G	p.Ser838Trp	p.S838W	ENST00000597188	NM_030957.2	838	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS12206.1	2513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGAGCAC	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723:SF26,hmmpanther:PTHR13723,PROSITE_profiles:PS50092	.	.	ENSP00000270328	.	20/25	.	.	.	.	.	.	.	.	.	20/25	nonpreferredpair	ENST00000270328	Transcript	1	.	ENSG00000142303	13201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ATS10_HUMAN	ADAMTS10	HGNC	.	.	UPI000013D883	SNV	ADAMTS10,missense_variant,p.Ser838Trp,ENST00000597188,;ADAMTS10,missense_variant,p.Ser838Trp,ENST00000270328,;ADAMTS10,missense_variant,p.Ser325Trp,ENST00000595838,;AC130469.2,downstream_gene_variant,,ENST00000597256,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;ADAMTS10,downstream_gene_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000593826,;	2780	114	128	SUCCESS
RBP7	116362	.	GRCh37	1	10068317	10068317	+	synonymous_variant	Silent	SNP	A	A	C	rs778318435	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	10	116	0	ENST00000294435.7:c.339A>C	p.Gly113=	p.G113=	ENST00000294435	NM_052960.2	113	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS109.1	339	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGACAA	NONE	.	.	Prints_domain:PR00178,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955:SF77,hmmpanther:PTHR11955	.	.	ENSP00000294435	.	3/4	.	.	.	.	.	.	.	.	rs778318435	3/4	nonpreferredpair	ENST00000294435	Transcript	.	.	ENSG00000162444	30316	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RET7_HUMAN	RBP7	HGNC	.	.	UPI00001336D9	SNV	RBP7,synonymous_variant,p.%3D,ENST00000294435,;RBP7,3_prime_UTR_variant,,ENST00000315901,;	382	116	92	SUCCESS
COL11A1	1301	.	GRCh37	1	103444965	103444965	+	synonymous_variant	Silent	SNP	T	T	A	rs541933572	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	5	152	0	ENST00000370096.3:c.2583A>T	p.Pro861=	p.P861=	ENST00000370096	NM_001854.3	861	ccA/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS778.1	2583	MUTECT|MUSE	.	GCACCTGGAAA	NONE	by1000G	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	A:0	.	ENSP00000359114	A:0	32/67	.	.	.	.	.	.	.	.	rs541933572	32/67	nonpreferredpair	ENST00000370096	Transcript	.	A:0.0002	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;	2896	152	158	SUCCESS
CAPZA1	829	.	GRCh37	1	113192072	113192072	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	113	0	ENST00000263168.3:c.136C>G	p.Leu46Val	p.L46V	ENST00000263168	NM_006135.2	46	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS30805.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCTCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF2,Pfam_domain:PF01267,Superfamily_domains:SSF90096	.	.	ENSP00000263168	.	3/10	.	.	.	.	.	.	.	.	.	3/10	nonpreferredpair	ENST00000263168	Transcript	.	.	ENSG00000116489	1488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	deleterious(0)	.	CAZA1_HUMAN	CAPZA1	HGNC	.	.	UPI00001270FA	SNV	CAPZA1,missense_variant,p.Leu46Val,ENST00000263168,;snoU13,upstream_gene_variant,,ENST00000459345,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000476936,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000498626,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000485542,;	808	113	98	SUCCESS
SDF4	51150	.	GRCh37	1	1152909	1152909	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778039481	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	51	0	ENST00000360001.6:c.1072G>A	p.Val358Met	p.V358M	ENST00000360001		358	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS30553.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACGCTGC	NONE	byFrequency	.	Gene3D:1.10.238.10,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF39	.	.	ENSP00000353094	.	7/7	.	.	.	.	.	.	.	.	rs778039481	7/7	nonpreferredpair	ENST00000360001	Transcript	.	.	ENSG00000078808	24188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CAB45_HUMAN	SDF4	HGNC	.	.	UPI0000127156	SNV	SDF4,missense_variant,p.Val358Met,ENST00000360001,;SDF4,3_prime_UTR_variant,,ENST00000263741,;SDF4,downstream_gene_variant,,ENST00000403997,;TNFRSF4,upstream_gene_variant,,ENST00000379236,;SDF4,downstream_gene_variant,,ENST00000545427,;TNFRSF4,upstream_gene_variant,,ENST00000453580,;SDF4,3_prime_UTR_variant,,ENST00000465727,;SDF4,non_coding_transcript_exon_variant,,ENST00000494748,;SDF4,non_coding_transcript_exon_variant,,ENST00000478938,;TNFRSF4,upstream_gene_variant,,ENST00000497869,;	1335	51	70	SUCCESS
OTUD7B	56957	.	GRCh37	1	149915759	149915759	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	65	0	ENST00000369135.4:c.2529C>T	p.Phe843=	p.F843=	ENST00000369135	NM_020205.3	843	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS41389.1	2529	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGAACCT	NONE	.	.	.	.	.	ENSP00000358131	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000369135	Transcript	.	.	ENSG00000163113	16683	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTU7B_HUMAN	OTUD7B	HGNC	Q5SZ59_HUMAN	.	UPI000020415D	SNV	OTUD7B,synonymous_variant,p.%3D,ENST00000369135,;OTUD7B,downstream_gene_variant,,ENST00000417191,;	2824	65	71	SUCCESS
CERS2	29956	.	GRCh37	1	150939260	150939260	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781122228	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	107	0	ENST00000271688.6:c.820A>G	p.Ile274Val	p.I274V	ENST00000271688	NM_181746.3	274	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS973.1	820	MUTECT|MUSE	.	GGTGATGATAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12560:SF7,hmmpanther:PTHR12560,Pfam_domain:PF03798,SMART_domains:SM00724,PIRSF_domain:PIRSF005225	.	.	ENSP00000271688	.	9/11	.	.	.	.	.	.	.	.	rs781122228	9/11	nonpreferredpair	ENST00000271688	Transcript	.	.	ENSG00000143418	14076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.8)	.	CERS2_HUMAN	CERS2	HGNC	Q5SZE6_HUMAN,Q5SZE3_HUMAN,Q5SZE2_HUMAN,Q5SZE1_HUMAN,H0YKH6_HUMAN	.	UPI0000001237	SNV	CERS2,missense_variant,p.Ile265Val,ENST00000561294,;CERS2,missense_variant,p.Ile122Val,ENST00000560793,;CERS2,missense_variant,p.Ile274Val,ENST00000368954,;CERS2,missense_variant,p.Ile274Val,ENST00000368949,;CERS2,missense_variant,p.Ile274Val,ENST00000271688,;SETDB1,downstream_gene_variant,,ENST00000498193,;SETDB1,downstream_gene_variant,,ENST00000271640,;SETDB1,downstream_gene_variant,,ENST00000368969,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000457392,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000421609,;RP11-316M1.12,downstream_gene_variant,,ENST00000560481,;RP11-316M1.12,downstream_gene_variant,,ENST00000561111,;CERS2,non_coding_transcript_exon_variant,,ENST00000345896,;CERS2,non_coding_transcript_exon_variant,,ENST00000482825,;CERS2,non_coding_transcript_exon_variant,,ENST00000460664,;SETDB1,downstream_gene_variant,,ENST00000528749,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000533529,;SETDB1,downstream_gene_variant,,ENST00000497314,;CERS2,downstream_gene_variant,,ENST00000559660,;	1207	107	107	SUCCESS
SMG5	23381	.	GRCh37	1	156237933	156237933	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	11	141	1	ENST00000361813.5:c.881T>C	p.Leu294Pro	p.L294P	ENST00000361813	NM_015327.2	294	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1137.1	881	MUTECT|MUSE	.	TTTGCAGATAC	NONE	.	.	Superfamily_domains:SSF48452,Pfam_domain:PF10373,hmmpanther:PTHR15696:SF1,hmmpanther:PTHR15696	.	.	ENSP00000355261	.	9/22	.	.	.	.	.	.	.	.	.	9/22	nonpreferredpair	ENST00000361813	Transcript	.	.	ENSG00000198952	24644	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SMG5_HUMAN	SMG5	HGNC	.	.	UPI0000050C24	SNV	SMG5,missense_variant,p.Leu294Pro,ENST00000368267,;SMG5,missense_variant,p.Leu294Pro,ENST00000361813,;SMG5,upstream_gene_variant,,ENST00000489907,;	1026	142	145	SUCCESS
DUSP27	0	.	GRCh37	1	167095928	167095928	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	55	211	0	ENST00000361200.2:c.1560G>T	p.Glu520Asp	p.E520D	ENST00000361200		520	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS30932.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGGACAG	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	tolerated(0.05)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Glu520Asp,ENST00000361200,;DUSP27,missense_variant,p.Glu520Asp,ENST00000443333,;DUSP27,missense_variant,p.Glu520Asp,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1726	211	177	SUCCESS
PRDX6	9588	.	GRCh37	1	173446509	173446509	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1372446740	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	49	0	ENST00000340385.5:c.-28C>T		p.*10*	ENST00000340385	NM_004905.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1307.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCAGCG	NONE	.	.	.	.	.	ENSP00000342026	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000340385	Transcript	.	.	ENSG00000117592	16753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDX6_HUMAN	PRDX6	HGNC	.	.	UPI0000001C4B	SNV	PRDX6,5_prime_UTR_variant,,ENST00000340385,;PRDX6,non_coding_transcript_exon_variant,,ENST00000460950,;PRDX6,upstream_gene_variant,,ENST00000470017,;	105	49	63	SUCCESS
TNN	63923	.	GRCh37	1	175052888	175052888	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	64	0	ENST00000239462.4:c.1051C>G	p.Leu351Val	p.L351V	ENST00000239462	NM_022093.1	351	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS30943.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGACCTTGCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000239462	.	5/19	.	.	.	.	.	.	.	.	.	5/19	nonpreferredpair	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.49)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Leu351Val,ENST00000239462,;	1164	64	44	SUCCESS
STX6	10228	.	GRCh37	1	180953892	180953892	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	59	0	ENST00000258301.5:c.612C>G	p.Phe204Leu	p.F204L	ENST00000258301	NM_005819.4	204	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1341.1	612	MUTECT|MUSE	.	TGAGAGAAATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50192,hmmpanther:PTHR12380:SF35,hmmpanther:PTHR12380,PROSITE_patterns:PS00914,Gene3D:1.20.5.110,Pfam_domain:PF05739,SMART_domains:SM00397,Superfamily_domains:SSF58038	.	.	ENSP00000258301	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000258301	Transcript	.	.	ENSG00000135823	11441	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	tolerated(0.1)	.	STX6_HUMAN	STX6	HGNC	B4DR17_HUMAN	.	UPI00000490D6	SNV	STX6,missense_variant,p.Phe204Leu,ENST00000258301,;STX6,missense_variant,p.Phe103Leu,ENST00000542060,;AL162431.1,downstream_gene_variant,,ENST00000457152,;STX6,non_coding_transcript_exon_variant,,ENST00000469135,;STX6,downstream_gene_variant,,ENST00000496476,;	850	59	44	SUCCESS
LAD1	3898	.	GRCh37	1	201351392	201351392	+	synonymous_variant	Silent	SNP	C	C	T	rs762162665	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	63	0	ENST00000391967.2:c.1536G>A	p.Ser512=	p.S512=	ENST00000391967	NM_005558.3	512	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1410.1	1536	MUTECT|MUSE	.	TCCAGCGAGGA	NONE	.	.	hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144	.	.	ENSP00000375829	.	9/10	.	.	.	.	.	.	.	.	rs762162665	9/10	nonpreferredpair	ENST00000391967	Transcript	.	.	ENSG00000159166	6472	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAD1_HUMAN	LAD1	HGNC	.	.	UPI000006CD59	SNV	LAD1,synonymous_variant,p.%3D,ENST00000391967,;LAD1,synonymous_variant,p.%3D,ENST00000367313,;LAD1,synonymous_variant,p.%3D,ENST00000503578,;TNNT2,upstream_gene_variant,,ENST00000367318,;TNNT2,upstream_gene_variant,,ENST00000458432,;TNNT2,upstream_gene_variant,,ENST00000422165,;TNNT2,upstream_gene_variant,,ENST00000367322,;TNNT2,upstream_gene_variant,,ENST00000421663,;TNNT2,upstream_gene_variant,,ENST00000509001,;TNNT2,upstream_gene_variant,,ENST00000438742,;TNNT2,upstream_gene_variant,,ENST00000455702,;TNNT2,upstream_gene_variant,,ENST00000367320,;TNNT2,upstream_gene_variant,,ENST00000412633,;LAD1,downstream_gene_variant,,ENST00000488842,;LAD1,downstream_gene_variant,,ENST00000475136,;TNNT2,upstream_gene_variant,,ENST00000491504,;TNNT2,upstream_gene_variant,,ENST00000472177,;	1838	63	50	SUCCESS
ATP2B4	493	.	GRCh37	1	203678582	203678582	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	31	128	0	ENST00000357681.5:c.1711G>C	p.Val571Leu	p.V571L	ENST00000357681	NM_001684.4	571	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS1440.1	1711	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGTGCGC	NONE	.	.	hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000350310	.	11/21	.	.	.	.	.	.	.	.	.	11/21	nonpreferredpair	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.253)	.	deleterious(0.05)	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Val571Leu,ENST00000341360,;ATP2B4,missense_variant,p.Val571Leu,ENST00000367218,;ATP2B4,missense_variant,p.Val571Leu,ENST00000391954,;ATP2B4,missense_variant,p.Val559Leu,ENST00000367219,;ATP2B4,missense_variant,p.Val571Leu,ENST00000357681,;	2834	129	225	SUCCESS
MIR4260	100422894	.	GRCh37	1	209796790	209796790	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs752499836	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	25	107	0	ENST00000583107.1:n.66A>G		p.*22*	ENST00000583107				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGTTGGTG	NONE	byFrequency	.	.	.	.	ENSP00000375778	.	.	.	.	.	.	.	.	.	.	rs752499836	.	nonpreferredpair	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODIFIER	15/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,intron_variant,,ENST00000356082,;LAMB3,intron_variant,,ENST00000391911,;LAMB3,intron_variant,,ENST00000367030,;LAMB3,upstream_gene_variant,,ENST00000455193,;MIR4260,non_coding_transcript_exon_variant,,ENST00000583107,;	.	107	135	SUCCESS
RRP15	51018	.	GRCh37	1	218475635	218475635	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	17	143	0	ENST00000366932.3:c.140-1G>A		p.X47_splice	ENST00000366932	NM_016052.3	47		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1520.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTATAGGAAGC	NONE	.	.	.	.	.	ENSP00000355899	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000366932	Transcript	.	.	ENSG00000067533	24255	.	.	HIGH	1/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RRP15_HUMAN	RRP15	HGNC	.	.	UPI0000205BC1	SNV	RRP15,splice_acceptor_variant,,ENST00000366932,;RRP15,splice_acceptor_variant,,ENST00000491428,;RP11-224O19.4,upstream_gene_variant,,ENST00000434965,;	.	143	174	SUCCESS
USP1	7398	.	GRCh37	1	62914231	62914231	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	17	190	0	ENST00000339950.4:c.1516T>C	p.Cys506Arg	p.C506R	ENST00000339950	NM_003368.4	506	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS621.1	1516	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTGTGAA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,Gene3D:1nbfA02,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378,PROSITE_profiles:PS50235	.	.	ENSP00000343526	.	8/9	.	.	.	.	.	.	.	.	COSM426551	8/9	nonpreferredpair	ENST00000339950	Transcript	.	.	ENSG00000162607	12607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	UBP1_HUMAN	USP1	HGNC	C9JWX4_HUMAN,C9JC88_HUMAN	.	UPI00001379D4	SNV	USP1,missense_variant,p.Cys506Arg,ENST00000371146,;USP1,missense_variant,p.Cys506Arg,ENST00000339950,;	2331	190	143	SUCCESS
SIRPB2	284759	.	GRCh37	20	1456917	1456917	+	synonymous_variant	Silent	SNP	T	T	C	rs1446852926	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	67	0	ENST00000359801.3:c.924A>G	p.Leu308=	p.L308=	ENST00000359801	NM_001122962.1	308	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42849.1	924	MUTECT|MUSE	.	GCCAGTAGGAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000352849	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000359801	Transcript	.	.	ENSG00000196209	16247	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIRB2_HUMAN	SIRPB2	HGNC	.	.	UPI00001D8311	SNV	SIRPB2,synonymous_variant,p.%3D,ENST00000444444,;SIRPB2,synonymous_variant,p.%3D,ENST00000359801,;SIRPB2,downstream_gene_variant,,ENST00000537284,;NSFL1C,upstream_gene_variant,,ENST00000553571,;SIRPB2,downstream_gene_variant,,ENST00000608747,;SIRPB2,intron_variant,,ENST00000486775,;SIRPB2,intron_variant,,ENST00000481731,;SIRPB2,downstream_gene_variant,,ENST00000381630,;SIRPB2,downstream_gene_variant,,ENST00000609796,;SIRPB2,downstream_gene_variant,,ENST00000608073,;	961	67	56	SUCCESS
VPS16	64601	.	GRCh37	20	2842263	2842263	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	25	0	ENST00000380445.3:c.812G>T	p.Cys271Phe	p.C271F	ENST00000380445	NM_022575.2	271	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS13036.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGCAGCC	NONE	.	.	hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	9/24	.	.	.	.	.	.	.	.	.	9/24	nonpreferredpair	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,missense_variant,p.Cys153Phe,ENST00000417508,;VPS16,missense_variant,p.Cys271Phe,ENST00000380469,;VPS16,missense_variant,p.Cys153Phe,ENST00000453689,;VPS16,missense_variant,p.Cys271Phe,ENST00000380445,;VPS16,upstream_gene_variant,,ENST00000380443,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,splice_region_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	884	25	22	SUCCESS
VPS16	64601	.	GRCh37	20	2842264	2842264	+	synonymous_variant	Silent	SNP	C	C	T	rs1304158668	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	25	0	ENST00000380445.3:c.813C>T	p.Cys271=	p.C271=	ENST00000380445	NM_022575.2	271	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS13036.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCAGCCG	NONE	.	.	hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	9/24	.	.	.	.	.	.	.	.	.	9/24	nonpreferredpair	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,synonymous_variant,p.%3D,ENST00000417508,;VPS16,synonymous_variant,p.%3D,ENST00000380469,;VPS16,synonymous_variant,p.%3D,ENST00000453689,;VPS16,synonymous_variant,p.%3D,ENST00000380445,;VPS16,upstream_gene_variant,,ENST00000380443,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,non_coding_transcript_exon_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	885	25	20	SUCCESS
VPS16	64601	.	GRCh37	20	2842265	2842265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	25	0	ENST00000380445.3:c.814A>T	p.Ser272Cys	p.S272C	ENST00000380445	NM_022575.2	272	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13036.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCAGCCGT	NONE	.	.	hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949	.	.	ENSP00000369810	.	9/24	.	.	.	.	.	.	.	.	.	9/24	nonpreferredpair	ENST00000380445	Transcript	.	.	ENSG00000215305	14584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.14)	.	VPS16_HUMAN	VPS16	HGNC	A1A4H0_HUMAN	.	UPI0000138B87	SNV	VPS16,missense_variant,p.Ser154Cys,ENST00000417508,;VPS16,missense_variant,p.Ser272Cys,ENST00000380469,;VPS16,missense_variant,p.Ser154Cys,ENST00000453689,;VPS16,missense_variant,p.Ser272Cys,ENST00000380445,;VPS16,upstream_gene_variant,,ENST00000380443,;PTPRA,upstream_gene_variant,,ENST00000380393,;VPS16,non_coding_transcript_exon_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	886	25	24	SUCCESS
DSCAM	1826	.	GRCh37	21	41459179	41459179	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	69	0	ENST00000400454.1:c.3886A>T	p.Thr1296Ser	p.T1296S	ENST00000400454	NM_001271534.1	1296	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS42929.1	3886	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGTCACTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	22/33	.	.	.	.	.	.	.	.	.	22/33	nonpreferredpair	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.51)	.	tolerated(0.06)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Thr1048Ser,ENST00000404019,;DSCAM,missense_variant,p.Thr1296Ser,ENST00000400454,;	4364	69	82	SUCCESS
DSCAM	1826	.	GRCh37	21	41684133	41684133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	33	116	0	ENST00000400454.1:c.1937A>G	p.Asp646Gly	p.D646G	ENST00000400454	NM_001271534.1	646	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS42929.1	1937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTCAATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	9/33	.	.	.	.	.	.	.	.	.	9/33	nonpreferredpair	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	tolerated(0.05)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Asp398Gly,ENST00000404019,;DSCAM,missense_variant,p.Asp646Gly,ENST00000400454,;	2415	116	125	SUCCESS
KRTAP10-6	386674	.	GRCh37	21	46011616	46011616	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1387150118	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	91	0	ENST00000400368.1:c.750C>A	p.Cys250Ter	p.C250*	ENST00000400368	NM_198688.2	250	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS42959.1	750	MUTECT|MUSE	.	TGGCAGCATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18	.	.	ENSP00000383219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000400368	Transcript	.	.	ENSG00000188155	20523	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR106_HUMAN	KRTAP10-6	HGNC	.	.	UPI0000E5A408	SNV	KRTAP10-6,stop_gained,p.Cys250Ter,ENST00000400368,;TSPEAR,intron_variant,,ENST00000323084,;	771	91	82	SUCCESS
SFI1	9814	.	GRCh37	22	32007130	32007130	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	66	0	ENST00000400288.2:c.2256C>T		p.X752_splice	ENST00000400288	NM_001007467.2	752	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43004.1	2256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGCTGTCT	NONE	.	.	hmmpanther:PTHR22028:SF2,hmmpanther:PTHR22028	.	.	ENSP00000383145	.	23/33	.	.	.	.	.	.	.	.	COSM1415852	23/33	nonpreferredpair	ENST00000400288	Transcript	.	.	ENSG00000198089	29064	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SFI1_HUMAN	SFI1	HGNC	.	.	UPI00004703B1	SNV	SFI1,synonymous_variant,p.%3D,ENST00000400289,;SFI1,synonymous_variant,p.%3D,ENST00000414585,;SFI1,synonymous_variant,p.%3D,ENST00000443011,;SFI1,synonymous_variant,p.%3D,ENST00000417682,;SFI1,synonymous_variant,p.%3D,ENST00000400288,;SFI1,synonymous_variant,p.%3D,ENST00000432498,;SFI1,synonymous_variant,p.%3D,ENST00000540643,;SFI1,synonymous_variant,p.%3D,ENST00000443326,;SFI1,splice_region_variant,,ENST00000466991,;SFI1,upstream_gene_variant,,ENST00000474741,;SFI1,upstream_gene_variant,,ENST00000463436,;SFI1,missense_variant,p.Ala342Val,ENST00000452250,;SFI1,splice_region_variant,,ENST00000524296,;SFI1,splice_region_variant,,ENST00000491973,;SFI1,splice_region_variant,,ENST00000382162,;SFI1,upstream_gene_variant,,ENST00000495107,;SFI1,upstream_gene_variant,,ENST00000357852,;SFI1,downstream_gene_variant,,ENST00000488883,;SFI1,upstream_gene_variant,,ENST00000476577,;SFI1,upstream_gene_variant,,ENST00000464333,;	2361	66	60	SUCCESS
GRAP2	9402	.	GRCh37	22	40366916	40366916	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774420692	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	45	1	ENST00000344138.4:c.821G>A	p.Arg274Gln	p.R274Q	ENST00000344138	NM_004810.2	274	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13999.1	821	MUTECT|SOMATICSNIPER|VARSCANS	.	AGTGCGGTGGG	NONE	byFrequency	.	Prints_domain:PR00452,Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF28,PROSITE_profiles:PS50002	.	.	ENSP00000339186	.	8/8	.	.	.	.	.	.	.	.	rs774420692	8/8	nonpreferredpair	ENST00000344138	Transcript	.	.	ENSG00000100351	4563	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.318)	.	tolerated(0.35)	.	GRAP2_HUMAN	GRAP2	HGNC	Q6FI14_HUMAN,B7Z8E3_HUMAN,B1AH86_HUMAN	.	UPI000012BB02	SNV	GRAP2,missense_variant,p.Arg234Gln,ENST00000543252,;GRAP2,missense_variant,p.Arg274Gln,ENST00000407075,;GRAP2,missense_variant,p.Arg161Gln,ENST00000399090,;GRAP2,missense_variant,p.Arg274Gln,ENST00000344138,;GRAP2,missense_variant,p.Arg202Gln,ENST00000544756,;GRAP2,missense_variant,p.Arg208Gln,ENST00000540310,;GRAP2,downstream_gene_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000460449,;GRAP2,downstream_gene_variant,,ENST00000481263,;	1084	46	35	SUCCESS
RIF1	55183	.	GRCh37	2	152293757	152293757	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	43	218	1	ENST00000243326.5:c.1375C>T	p.Pro459Ser	p.P459S	ENST00000243326		459	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2194.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCATTG	NONE	.	.	hmmpanther:PTHR22928	.	.	ENSP00000243326	.	12/35	.	.	.	.	.	.	.	.	.	12/35	nonpreferredpair	ENST00000243326	Transcript	.	.	ENSG00000080345	23207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	deleterious(0)	.	RIF1_HUMAN	RIF1	HGNC	C9J1D6_HUMAN,B4DRJ4_HUMAN	.	UPI000023729F	SNV	RIF1,missense_variant,p.Pro451Ser,ENST00000414861,;RIF1,missense_variant,p.Pro459Ser,ENST00000444746,;RIF1,missense_variant,p.Pro459Ser,ENST00000453091,;RIF1,missense_variant,p.Pro459Ser,ENST00000428287,;RIF1,missense_variant,p.Pro459Ser,ENST00000243326,;RIF1,missense_variant,p.Pro459Ser,ENST00000430328,;RIF1,splice_region_variant,,ENST00000433166,;	1858	220	176	SUCCESS
NBAS	51594	.	GRCh37	2	15492192	15492192	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	65	0	ENST00000281513.5:c.4103G>A	p.Arg1368Lys	p.R1368K	ENST00000281513	NM_015909.3	1368	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS1685.1	4103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCTTTGA	NONE	.	.	Pfam_domain:PF08314,hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	35/52	.	.	.	.	.	.	.	.	.	35/52	nonpreferredpair	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Arg1248Lys,ENST00000441750,;NBAS,missense_variant,p.Arg1368Lys,ENST00000281513,;NBAS,missense_variant,p.Arg416Lys,ENST00000442506,;	4129	65	58	SUCCESS
PXDN	7837	.	GRCh37	2	1653324	1653324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758592134	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	6	117	0	ENST00000252804.4:c.2228C>T	p.Thr743Met	p.T743M	ENST00000252804	NM_012293.1	743	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS46221.1	2228	MUTECT|MUSE	.	CGTGCGTCCGG	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000252804	.	17/23	.	.	.	.	.	.	.	.	rs758592134	17/23	nonpreferredpair	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Thr743Met,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;	2279	117	83	SUCCESS
ZNF385B	151126	.	GRCh37	2	180348008	180348008	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	50	227	0	ENST00000410066.1:c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000410066	NM_152520.4	221	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33339.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTCAGAGT	NONE	.	.	hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067	.	.	ENSP00000386845	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	deleterious(0)	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,missense_variant,p.Asp119Tyr,ENST00000409692,;ZNF385B,missense_variant,p.Asp145Tyr,ENST00000409343,;ZNF385B,missense_variant,p.Asp221Tyr,ENST00000410066,;ZNF385B,missense_variant,p.Asp119Tyr,ENST00000336917,;ZNF385B,missense_variant,p.Asp119Tyr,ENST00000457304,;ZNF385B,downstream_gene_variant,,ENST00000439340,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000495289,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000475539,;ZNF385B,intron_variant,,ENST00000469551,;	1265	227	181	SUCCESS
SLC39A10	57181	.	GRCh37	2	196599744	196599744	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	15	204	0	ENST00000359634.5:c.2475T>G	p.Ile825Met	p.I825M	ENST00000359634	NM_020342.2	825	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS33353.1	2475	MUTECT|MUSE|VARSCANS	.	AAAATTGTGTT	NONE	.	.	hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191	.	.	ENSP00000386766	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Ile375Met,ENST00000541054,;SLC39A10,missense_variant,p.Ile825Met,ENST00000409086,;SLC39A10,missense_variant,p.Ile825Met,ENST00000359634,;DNAH7,downstream_gene_variant,,ENST00000409063,;DNAH7,downstream_gene_variant,,ENST00000438565,;DNAH7,downstream_gene_variant,,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000484183,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;	2750	204	170	SUCCESS
STK17B	9262	.	GRCh37	2	197008292	197008292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	9	150	0	ENST00000263955.4:c.599A>G	p.Glu200Gly	p.E200G	ENST00000263955	NM_004226.3	200	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2315.1	599	MUTECT|MUSE|VARSCANS	.	AATATTCTGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF5,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263955	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000263955	Transcript	.	.	ENSG00000081320	11396	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ST17B_HUMAN	STK17B	HGNC	U3KQF8_HUMAN,Q53QE7_HUMAN,C9JZJ1_HUMAN	.	UPI0000035B5D	SNV	STK17B,missense_variant,p.Glu200Gly,ENST00000263955,;STK17B,missense_variant,p.Glu200Gly,ENST00000409228,;	886	150	110	SUCCESS
FN1	2335	.	GRCh37	2	216226796	216226796	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759273898	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	51	0	ENST00000359671.1:c.6985C>T	p.Arg2329Cys	p.R2329C	ENST00000359671		2329	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42814.1	7258	MUTECT|MUSE	.	ACAGCGCCAGC	NONE	.	.	PROSITE_profiles:PS51091,PROSITE_patterns:PS01253,Pfam_domain:PF00039,Gene3D:2.10.70.10,SMART_domains:SM00058,Superfamily_domains:SSF57603	.	.	ENSP00000346839	.	45/46	.	.	.	.	.	.	.	.	rs759273898,COSM4091092,COSM4091091	45/46	nonpreferredpair	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.91)	.	deleterious(0)	0,1,1	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Arg2210Cys,ENST00000432072,;FN1,missense_variant,p.Arg2208Cys,ENST00000443816,;FN1,missense_variant,p.Arg2127Cys,ENST00000345488,;FN1,missense_variant,p.Arg2420Cys,ENST00000354785,;FN1,missense_variant,p.Arg2329Cys,ENST00000359671,;FN1,missense_variant,p.Arg2273Cys,ENST00000446046,;FN1,missense_variant,p.Arg2119Cys,ENST00000357867,;FN1,missense_variant,p.Arg2183Cys,ENST00000421182,;FN1,missense_variant,p.Arg2154Cys,ENST00000346544,;FN1,missense_variant,p.Arg2298Cys,ENST00000336916,;FN1,missense_variant,p.Arg1046Cys,ENST00000456923,;FN1,missense_variant,p.Arg2389Cys,ENST00000323926,;FN1,missense_variant,p.Arg2239Cys,ENST00000356005,;FN1,3_prime_UTR_variant,,ENST00000357009,;FN1,non_coding_transcript_exon_variant,,ENST00000494446,;FN1,non_coding_transcript_exon_variant,,ENST00000498719,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,downstream_gene_variant,,ENST00000469569,;FN1,downstream_gene_variant,,ENST00000473614,;	7628	51	45	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218924535	218924535	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	52	0	ENST00000439871.1:n.1846G>T		p.*616*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CCCTGCTTTCA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	1846	52	43	SUCCESS
SERPINE2	5270	.	GRCh37	2	224866553	224866553	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749069197	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	48	0	ENST00000258405.4:c.65T>C	p.Phe22Ser	p.F22S	ENST00000258405	NM_001136528.1	22	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS46525.1	101	RADIA|MUTECT|MUSE|VARSCANS	.	GATTGAAGTGG	NONE	byFrequency	.	hmmpanther:PTHR11461:SF48,hmmpanther:PTHR11461	.	.	ENSP00000415786	.	2/9	.	.	.	.	.	.	.	.	rs749069197	2/9	nonpreferredpair	ENST00000447280	Transcript	.	.	ENSG00000135919	8951	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	tolerated(0.22)	.	GDN_HUMAN	SERPINE2	HGNC	C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN,B4DMR3_HUMAN	.	UPI00017A7317	SNV	SERPINE2,missense_variant,p.Phe22Ser,ENST00000432738,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000423446,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000409304,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000454956,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000409840,;SERPINE2,missense_variant,p.Phe34Ser,ENST00000447280,;SERPINE2,missense_variant,p.Phe22Ser,ENST00000258405,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000489065,;	402	48	47	SUCCESS
ARMC9	80210	.	GRCh37	2	232079712	232079712	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	30	115	0	ENST00000349938.4:c.346C>T	p.Pro116Ser	p.P116S	ENST00000349938	NM_025139.4	116	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2484.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACCGGTG	NONE	.	.	hmmpanther:PTHR14881,Gene3D:1.25.10.10	.	.	ENSP00000258417	.	4/21	.	.	.	.	.	.	.	.	.	4/21	nonpreferredpair	ENST00000349938	Transcript	.	.	ENSG00000135931	20730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.24)	.	ARMC9_HUMAN	ARMC9	HGNC	C9JW07_HUMAN	.	UPI00001AE7AC	SNV	ARMC9,missense_variant,p.Pro116Ser,ENST00000349938,;ARMC9,missense_variant,p.Pro116Ser,ENST00000440107,;ARMC9,splice_region_variant,,ENST00000483477,;ARMC9,non_coding_transcript_exon_variant,,ENST00000469789,;ARMC9,non_coding_transcript_exon_variant,,ENST00000482392,;	540	115	116	SUCCESS
RAB1A	5861	.	GRCh37	2	65331882	65331882	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	416	141	639	1	ENST00000409784.3:c.82C>A	p.Leu28Ile	p.L28I	ENST00000409784	NM_004161.4	28	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS46306.1	82	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AAGAAGAAGGC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF419,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000387286	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000409784	Transcript	.	.	ENSG00000138069	9758	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0.02)	.	RAB1A_HUMAN	RAB1A	HGNC	Q96RD8_HUMAN,Q5U0I6_HUMAN	.	UPI0000001259	SNV	RAB1A,missense_variant,p.Leu28Ile,ENST00000260638,;RAB1A,missense_variant,p.Leu28Ile,ENST00000409892,;RAB1A,missense_variant,p.Leu28Ile,ENST00000398529,;RAB1A,missense_variant,p.Leu28Ile,ENST00000356214,;RAB1A,missense_variant,p.Leu28Ile,ENST00000409784,;RAB1A,missense_variant,p.Leu28Ile,ENST00000409751,;RAB1A,non_coding_transcript_exon_variant,,ENST00000494188,;	273	641	557	SUCCESS
LRRTM1	347730	.	GRCh37	2	80529902	80529902	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	100	0	ENST00000295057.3:c.1043C>A	p.Ala348Glu	p.A348E	ENST00000295057	NM_178839.4	348	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS1966.1	1043	MUTECT|MUSE	.	CCTGTGCGTAC	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Gene3D:3.80.10.10	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	COSM3933695,COSM3933694	2/2	nonpreferredpair	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.601)	.	tolerated(0.05)	1,1	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,missense_variant,p.Ala348Glu,ENST00000295057,;LRRTM1,missense_variant,p.Ala348Glu,ENST00000409148,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;LRRTM1,downstream_gene_variant,,ENST00000415098,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000416268,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Ala348Glu,ENST00000417012,;LRRTM1,missense_variant,p.Ala348Glu,ENST00000433224,;	1700	100	69	SUCCESS
TMEM131	23505	.	GRCh37	2	98382611	98382611	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs538254823	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	7	217	0	ENST00000186436.5:c.4689G>C	p.Glu1563Asp	p.E1563D	ENST00000186436	NM_015348.1	1563	gaG/gaC	0	.	T:0	.	T:0	.	G	E/D	protein_coding	YES	CCDS46368.1	4689	MUTECT|MUSE	.	TCCCACTCCGG	NONE	by1000G	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1	T:0	.	ENSP00000186436	T:0	35/41	.	.	.	.	.	.	.	.	rs538254823	35/41	nonpreferredpair	ENST00000186436	Transcript	.	T:0.0002	ENSG00000075568	30366	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.675)	T:0.001	deleterious_low_confidence(0)	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,missense_variant,p.Glu1563Asp,ENST00000186436,;TMEM131,upstream_gene_variant,,ENST00000465767,;TMEM131,upstream_gene_variant,,ENST00000485245,;	4918	217	158	SUCCESS
SEC13	6396	.	GRCh37	3	10347279	10347279	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	99	0	ENST00000350697.3:c.548C>T	p.Ala183Val	p.A183V	ENST00000350697	NM_183352.2	183	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2599.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGCAAAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR11024,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000312122	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000350697	Transcript	.	.	ENSG00000157020	10697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(1)	.	SEC13_HUMAN	SEC13	HGNC	A4UCS7_HUMAN	.	UPI0000072378	SNV	SEC13,missense_variant,p.Ala169Val,ENST00000397117,;SEC13,missense_variant,p.Ala186Val,ENST00000337354,;SEC13,missense_variant,p.Ala183Val,ENST00000350697,;SEC13,missense_variant,p.Ala169Val,ENST00000397109,;SEC13,missense_variant,p.Ala229Val,ENST00000383801,;SEC13,upstream_gene_variant,,ENST00000492602,;SEC13,non_coding_transcript_exon_variant,,ENST00000476597,;SEC13,non_coding_transcript_exon_variant,,ENST00000490283,;SEC13,non_coding_transcript_exon_variant,,ENST00000479868,;SEC13,non_coding_transcript_exon_variant,,ENST00000477547,;	674	99	103	SUCCESS
ATP6V1A	523	.	GRCh37	3	113513944	113513952	+	inframe_deletion	In_Frame_Del	DEL	ATATCCAGC	ATATCCAGC	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	ATATCCAGC	ATATCCAGC	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	72	0	ENST00000273398.3:c.1119_1127del	p.Pro375_Tyr377del	p.P375_Y377del	ENST00000273398	NM_001690.3	373	ggATATCCAGCc/ggc	0	.	.	.	.	.	-	GYPA/G	protein_coding	YES	CCDS2976.1	1119-1127	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGTGGATATCCAGCCTATC	NONE	.	.	HAMAP:MF_00309,hmmpanther:PTHR15184:SF7,hmmpanther:PTHR15184,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01042,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000273398	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000273398	Transcript	.	.	ENSG00000114573	851	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VATA_HUMAN	ATP6V1A	HGNC	C9JVW8_HUMAN,C9JA17_HUMAN,B7Z2V6_HUMAN,B7Z1R5_HUMAN	.	UPI000013809A	deletion	ATP6V1A,inframe_deletion,p.Pro375_Tyr377del,ENST00000273398,;ATP6V1A,inframe_deletion,p.Pro342_Tyr344del,ENST00000538620,;ATP6V1A,3_prime_UTR_variant,,ENST00000470455,;	1227-1235	72	101	SUCCESS
DNAJC13	23317	.	GRCh37	3	132175649	132175649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	39	172	0	ENST00000260818.6:c.1322G>T	p.Gly441Val	p.G441V	ENST00000260818	NM_015268.3	441	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33857.1	1322	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGTTTCC	NONE	.	.	Superfamily_domains:SSF48371	.	.	ENSP00000260818	.	12/56	.	.	.	.	.	.	.	.	.	12/56	nonpreferredpair	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,missense_variant,p.Gly441Val,ENST00000260818,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000471925,;	1570	172	211	SUCCESS
MFN1	55669	.	GRCh37	3	179096495	179096495	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	26	225	0	ENST00000471841.1:c.1555G>A	p.Asp519Asn	p.D519N	ENST00000471841	NM_033540.2	519	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS3228.1	1555	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGATATT	NONE	.	.	hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF2	.	.	ENSP00000420617	.	14/18	.	.	.	.	.	.	.	.	.	14/18	nonpreferredpair	ENST00000471841	Transcript	.	.	ENSG00000171109	18262	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.2)	.	MFN1_HUMAN	MFN1	HGNC	C9JXQ1_HUMAN,C9JQT7_HUMAN	.	UPI000013D495	SNV	MFN1,missense_variant,p.Asp519Asn,ENST00000263969,;MFN1,missense_variant,p.Asp519Asn,ENST00000471841,;MFN1,intron_variant,,ENST00000474903,;MFN1,intron_variant,,ENST00000280653,;MFN1,3_prime_UTR_variant,,ENST00000357390,;MFN1,non_coding_transcript_exon_variant,,ENST00000482661,;MFN1,non_coding_transcript_exon_variant,,ENST00000480636,;MFN1,downstream_gene_variant,,ENST00000466287,;	1681	225	189	SUCCESS
KCNH8	131096	.	GRCh37	3	19574931	19574931	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774465243	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	6	78	0	ENST00000328405.2:c.2664G>A	p.Met888Ile	p.M888I	ENST00000328405	NM_144633.2	888	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2632.1	2664	MUTECT|MUSE	.	GACATGAGAAA	NONE	byFrequency	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000328813	.	16/16	.	.	.	.	.	.	.	.	rs774465243,COSM336725	16/16	nonpreferredpair	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.018)	.	deleterious(0.04)	0,1	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,missense_variant,p.Met888Ile,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	2930	78	95	SUCCESS
MFI2	0	.	GRCh37	3	196744154	196744154	+	synonymous_variant	Silent	SNP	C	C	T	rs375237562	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	127	0	ENST00000296350.5:c.720G>A	p.Thr240=	p.T240=	ENST00000296350	NM_005929.5	240	acG/acA	0	T:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS3325.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCGTCTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF5,Pfam_domain:PF00405,Gene3D:3.40.190.10,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,Superfamily_domains:SSF53850	.	T:0	ENSP00000296350	.	7/16	.	.	.	.	.	.	.	.	rs375237562	7/16	nonpreferredpair	ENST00000296350	Transcript	.	.	ENSG00000163975	7037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRFM_HUMAN	MFI2	HGNC	.	.	UPI000013E329	SNV	MFI2,synonymous_variant,p.%3D,ENST00000296350,;MFI2,downstream_gene_variant,,ENST00000296351,;MFI2,downstream_gene_variant,,ENST00000489445,;	834	127	94	SUCCESS
CLEC3B	7123	.	GRCh37	3	45077344	45077344	+	synonymous_variant	Silent	SNP	G	G	A	rs1048000919	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	80	0	ENST00000296130.4:c.537G>A	p.Ala179=	p.A179=	ENST00000296130	NM_003278.2	179	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2726.1	537	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGGCCAA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF3,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000296130	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,synonymous_variant,p.%3D,ENST00000296130,;CLEC3B,synonymous_variant,p.%3D,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	717	80	79	SUCCESS
USP4	7375	.	GRCh37	3	49316327	49316327	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	7	95	0	ENST00000265560.4:c.2653T>C	p.Tyr885His	p.Y885H	ENST00000265560	NM_003363.3	885	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS2793.1	2653	MUTECT|MUSE	.	CGCATATGCAG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000265560	.	21/22	.	.	.	.	.	.	.	.	.	21/22	nonpreferredpair	ENST00000265560	Transcript	.	.	ENSG00000114316	12627	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.584)	.	deleterious(0.01)	.	UBP4_HUMAN	USP4	HGNC	.	.	UPI000013D63C	SNV	USP4,missense_variant,p.Tyr838His,ENST00000351842,;USP4,missense_variant,p.Tyr885His,ENST00000265560,;USP4,intron_variant,,ENST00000431357,;C3orf62,upstream_gene_variant,,ENST00000436325,;C3orf62,upstream_gene_variant,,ENST00000343010,;MIR4271,downstream_gene_variant,,ENST00000582451,;USP4,non_coding_transcript_exon_variant,,ENST00000483212,;USP4,non_coding_transcript_exon_variant,,ENST00000485450,;C3orf62,upstream_gene_variant,,ENST00000424960,;C3orf62,upstream_gene_variant,,ENST00000479673,;	2700	95	99	SUCCESS
HTR1F	3355	.	GRCh37	3	88040336	88040336	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	67	0	ENST00000319595.4:c.437T>A	p.Ile146Lys	p.I146K	ENST00000319595	NM_000866.3	146	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS2920.1	437	MUTECT|MUSE	.	TACAATAGTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF34,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	deleterious(0.01)	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,missense_variant,p.Ile146Lys,ENST00000319595,;	491	67	71	SUCCESS
PROS1	5627	.	GRCh37	3	93611955	93611955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	272	74	370	0	ENST00000394236.3:c.977A>G	p.Glu326Gly	p.E326G	ENST00000394236	NM_000313.3	326	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2923.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATTCTGCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24040,hmmpanther:PTHR24040:SF0,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000377783	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000394236	Transcript	.	.	ENSG00000184500	9456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	.	deleterious(0)	.	PROS_HUMAN	PROS1	HGNC	Q8IXD5_HUMAN,Q8IXD4_HUMAN,Q8IXD2_HUMAN,Q6J1N0_HUMAN,Q06F35_HUMAN,G5E9F8_HUMAN,C9K0R0_HUMAN,B4E1L6_HUMAN	.	UPI00001323E8	SNV	PROS1,missense_variant,p.Glu326Gly,ENST00000394236,;PROS1,missense_variant,p.Glu195Gly,ENST00000407433,;	1294	370	347	SUCCESS
EPHA6	285220	.	GRCh37	3	97367321	97367321	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	24	0	ENST00000389672.5:c.2784+10395T>A		p.*928*	ENST00000389672	NM_001080448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46876.1	.	MUTECT|MUSE	.	CTAATTTAGGT	NONE	.	.	.	.	.	ENSP00000374323	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODIFIER	14/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,3_prime_UTR_variant,,ENST00000502694,;EPHA6,3_prime_UTR_variant,,ENST00000514100,;EPHA6,intron_variant,,ENST00000389672,;EPHA6,intron_variant,,ENST00000477384,;	.	24	23	SUCCESS
RNF212	285498	.	GRCh37	4	1107222	1107222	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	100	0	ENST00000433731.2:c.31T>A	p.Phe11Ile	p.F11I	ENST00000433731		11	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS46996.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAGCAGC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR22663,hmmpanther:PTHR22663:SF21,Gene3D:3.30.40.10,Pfam_domain:PF14634	.	.	ENSP00000389709	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000433731	Transcript	1	.	ENSG00000178222	27729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.03)	.	RN212_HUMAN	RNF212	HGNC	.	.	UPI00005764E4	SNV	RNF212,missense_variant,p.Phe11Ile,ENST00000433731,;RNF212,missense_variant,p.Phe11Ile,ENST00000382968,;RNF212,missense_variant,p.Phe11Ile,ENST00000333673,;RP11-20I20.2,upstream_gene_variant,,ENST00000504969,;RNF212,non_coding_transcript_exon_variant,,ENST00000505730,;TMED11P,downstream_gene_variant,,ENST00000491822,;TMED11P,downstream_gene_variant,,ENST00000502630,;RNF212,missense_variant,p.Phe11Ile,ENST00000508428,;RNF212,missense_variant,p.Phe11Ile,ENST00000511620,;RNF212,missense_variant,p.Phe11Ile,ENST00000510715,;RNF212,missense_variant,p.Phe11Ile,ENST00000506730,;RNF212,non_coding_transcript_exon_variant,,ENST00000454487,;TMED11P,downstream_gene_variant,,ENST00000479478,;	93	100	91	SUCCESS
CFI	3426	.	GRCh37	4	110723189	110723189	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	177	0	ENST00000394634.2:c.-62A>G		p.*21*	ENST00000394634	NM_000204.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34049.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTGAAAT	NONE	.	.	.	.	.	ENSP00000378130	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,5_prime_UTR_variant,,ENST00000394634,;CFI,5_prime_UTR_variant,,ENST00000394635,;CFI,upstream_gene_variant,,ENST00000510800,;CFI,upstream_gene_variant,,ENST00000512148,;	147	177	127	SUCCESS
ANK2	287	.	GRCh37	4	114279036	114279036	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	93	0	ENST00000357077.4:c.9262C>G	p.Pro3088Ala	p.P3088A	ENST00000357077	NM_001148.4	3088	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS3702.1	9262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCCAACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	nonpreferredpair	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Pro3055Ala,ENST00000264366,;ANK2,missense_variant,p.Pro3088Ala,ENST00000357077,;ANK2,missense_variant,p.Pro98Ala,ENST00000505342,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;	9315	93	50	SUCCESS
CLGN	1047	.	GRCh37	4	141313515	141313531	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGTATCTTTATGTTTTT	TGTATCTTTATGTTTTT	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	TGTATCTTTATGTTTTT	TGTATCTTTATGTTTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	101	0	ENST00000325617.5:c.1493_1509del	p.Lys498ArgfsTer3	p.K498Rfs*3	ENST00000325617	NM_004362.2	498	aAAAAACATAAAGATACA/a	0	.	.	.	.	.	-	KKHKDT/X	protein_coding	YES	CCDS3751.1	1493-1509	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACTCTGTATCTTTATGTTTTTTCTGT	NONE	.	.	hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000326699	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	deletion	CLGN,frameshift_variant,p.Lys498ArgfsTer3,ENST00000414773,;CLGN,frameshift_variant,p.Lys498ArgfsTer3,ENST00000325617,;CLGN,frameshift_variant,p.Lys498ArgfsTer3,ENST00000537281,;	1934-1950	101	85	SUCCESS
OTUD4	54726	.	GRCh37	4	146076604	146076604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs555763808	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	349	11	487	0	ENST00000447906.2:c.832A>G	p.Ile278Val	p.I278V	ENST00000447906		278	Att/Gtt	0	.	C:0	.	C:0	.	C	I/V	protein_coding	YES	CCDS47139.1	637	MUTECT|MUSE	.	AGCAATGGAAT	NONE	by1000G	.	hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF9	C:0	.	ENSP00000409279	C:0	10/21	.	.	.	.	.	.	.	.	rs555763808	10/21	nonpreferredpair	ENST00000454497	Transcript	.	C:0.0002	ENSG00000164164	24949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.96)	C:0.001	tolerated(0.11)	.	OTUD4_HUMAN	OTUD4	HGNC	D6RA27_HUMAN	.	UPI0000DA6D4D	SNV	OTUD4,missense_variant,p.Ile212Val,ENST00000514973,;OTUD4,missense_variant,p.Ile278Val,ENST00000447906,;OTUD4,missense_variant,p.Ile213Val,ENST00000454497,;OTUD4,downstream_gene_variant,,ENST00000504501,;OTUD4,downstream_gene_variant,,ENST00000296579,;OTUD4,downstream_gene_variant,,ENST00000509620,;OTUD4,non_coding_transcript_exon_variant,,ENST00000455611,;OTUD4,downstream_gene_variant,,ENST00000505976,;OTUD4,downstream_gene_variant,,ENST00000509985,;OTUD4,upstream_gene_variant,,ENST00000509517,;	775	487	360	SUCCESS
PRIMPOL	201973	.	GRCh37	4	185606652	185606652	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	rs752395554	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	72	354	0	ENST00000314970.6:c.1186G>T	p.Gly396Ter	p.G396*	ENST00000314970	NM_152683.2	396	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS3837.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGGTAAA	BUFFER|p.K394N|c.1182A>T|3	.	.	hmmpanther:PTHR31399,hmmpanther:PTHR31399:SF0	.	.	ENSP00000313816	.	10/14	.	.	.	.	.	.	.	.	rs752395554	10/14	nonpreferredpair	ENST00000314970	Transcript	1	.	ENSG00000164306	26575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC111_HUMAN	PRIMPOL	HGNC	D6RAH5_HUMAN,D6R971_HUMAN	.	UPI000013E37F	SNV	PRIMPOL,stop_gained,p.Gly70Ter,ENST00000508001,;PRIMPOL,stop_gained,p.Gly267Ter,ENST00000515774,;PRIMPOL,stop_gained,p.Gly396Ter,ENST00000314970,;PRIMPOL,stop_gained,p.Gly395Ter,ENST00000512834,;PRIMPOL,stop_gained,p.Gly396Ter,ENST00000503752,;PRIMPOL,splice_region_variant,,ENST00000509002,;	1619	354	226	SUCCESS
POLR2B	5431	.	GRCh37	4	57889912	57889912	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	16	170	0	ENST00000314595.5:c.2851C>T	p.Gln951Ter	p.Q951*	ENST00000314595	NM_000938.1	951	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3511.1	2851	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGACAAGAG	NONE	.	.	Superfamily_domains:SSF64484,Pfam_domain:PF00562,Gene3D:2a6hC01,hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856	.	.	ENSP00000370625	.	21/26	.	.	.	.	.	.	.	.	.	21/26	nonpreferredpair	ENST00000381227	Transcript	.	.	ENSG00000047315	9188	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPB2_HUMAN	POLR2B	HGNC	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN	.	UPI00001345D1	SNV	POLR2B,stop_gained,p.Gln944Ter,ENST00000441246,;POLR2B,stop_gained,p.Gln876Ter,ENST00000431623,;POLR2B,stop_gained,p.Gln951Ter,ENST00000381227,;POLR2B,stop_gained,p.Gln951Ter,ENST00000314595,;POLR2B,non_coding_transcript_exon_variant,,ENST00000464918,;POLR2B,non_coding_transcript_exon_variant,,ENST00000484821,;POLR2B,non_coding_transcript_exon_variant,,ENST00000478188,;	3264	170	159	SUCCESS
NUDT12	83594	.	GRCh37	5	102886634	102886634	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	87	0	ENST00000230792.2:c.1317C>T	p.Phe439=	p.F439=	ENST00000230792	NM_031438.2	439	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS4096.1	1317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGAATGC	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR22769,hmmpanther:PTHR22769:SF7,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000230792	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,synonymous_variant,p.%3D,ENST00000507423,;NUDT12,synonymous_variant,p.%3D,ENST00000230792,;NUDT12,downstream_gene_variant,,ENST00000515407,;	1414	87	118	SUCCESS
SNX2	6643	.	GRCh37	5	122110769	122110775	+	5_prime_UTR_variant	5'UTR	DEL	CAGCTCG	CAGCTCG	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	CAGCTCG	CAGCTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	75	0	ENST00000379516.2:c.-29_-23del		p.*10*	ENST00000379516	NM_003100.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34217.1	.	INDELOCATOR*|PINDEL	.	GAGGCCCAGCTCGCGCAG	NONE	.	.	.	.	.	ENSP00000368831	.	1/15	.	.	.	.	.	.	.	.	.	1/15	nonpreferredpair	ENST00000379516	Transcript	.	.	ENSG00000205302	11173	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX2_HUMAN	SNX2	HGNC	B4DEK4_HUMAN	.	UPI0000140645	deletion	SNX2,5_prime_UTR_variant,,ENST00000379516,;SNX2,upstream_gene_variant,,ENST00000505934,;SNX2,upstream_gene_variant,,ENST00000514949,;AC093267.1,downstream_gene_variant,,ENST00000390825,;SNX2,upstream_gene_variant,,ENST00000506874,;SNX2,5_prime_UTR_variant,,ENST00000512394,;SNX2,upstream_gene_variant,,ENST00000505854,;	79-85	75	76	SUCCESS
SLC6A18	348932	.	GRCh37	5	1245974	1245974	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	78	0	ENST00000324642.3:c.1668C>G	p.Pro556=	p.P556=	ENST00000324642	NM_182632.2	556	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3860.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCTCGCG	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000323549	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000324642	Transcript	1	.	ENSG00000164363	26441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A18_HUMAN	SLC6A18	HGNC	.	.	UPI0000197EA2	SNV	SLC6A18,synonymous_variant,p.%3D,ENST00000324642,;SLC6A18,downstream_gene_variant,,ENST00000296821,;	1791	78	97	SUCCESS
CHSY3	337876	.	GRCh37	5	129520172	129520172	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	6	148	0	ENST00000305031.4:c.1337T>A	p.Leu446Gln	p.L446Q	ENST00000305031	NM_175856.4	446	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS34223.1	1337	MUTECT|MUSE	.	GCAGCTGGGAG	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Pfam_domain:PF05679	.	.	ENSP00000302629	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Leu446Gln,ENST00000305031,;CHSY3,non_coding_transcript_exon_variant,,ENST00000507545,;	1695	148	161	SUCCESS
PCDH1	5097	.	GRCh37	5	141244054	141244054	+	synonymous_variant	Silent	SNP	C	C	G	rs750940944	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	56	0	ENST00000394536.3:c.1842G>C	p.Leu614=	p.L614=	ENST00000394536	NM_002587.4	614	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS4267.1	1842	RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCAGCAT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000287008	.	3/5	.	.	.	.	.	.	.	.	rs750940944	3/5	nonpreferredpair	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,synonymous_variant,p.%3D,ENST00000536585,;PCDH1,synonymous_variant,p.%3D,ENST00000456271,;PCDH1,synonymous_variant,p.%3D,ENST00000287008,;PCDH1,synonymous_variant,p.%3D,ENST00000394536,;PCDH1,synonymous_variant,p.%3D,ENST00000357517,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,downstream_gene_variant,,ENST00000505937,;	1990	56	54	SUCCESS
ARHGEF37	389337	.	GRCh37	5	149003635	149003635	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369747296	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	62	0	ENST00000333677.6:c.1396C>T	p.Arg466Trp	p.R466W	ENST00000333677	NM_001001669.2	466	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS43385.1	1396	MUTECT|MUSE	.	TGGGCCGGACG	BUFFER|p.A463V|c.1388C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR22834:SF9,hmmpanther:PTHR22834	.	T:0	ENSP00000328083	.	10/13	.	.	.	.	.	.	.	.	rs369747296	10/13	nonpreferredpair	ENST00000333677	Transcript	.	.	ENSG00000183111	34430	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.462)	.	deleterious(0)	.	ARH37_HUMAN	ARHGEF37	HGNC	D6RJH4_HUMAN	.	UPI00001D7F04	SNV	ARHGEF37,missense_variant,p.Arg466Trp,ENST00000333677,;ARHGEF37,upstream_gene_variant,,ENST00000509831,;	1559	62	63	SUCCESS
CAMK2A	815	.	GRCh37	5	149631366	149631366	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	9	148	0	ENST00000348628.6:c.640T>C	p.Trp214Arg	p.W214R	ENST00000348628	NM_171825.2	214	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS43387.1	640	MUTECT|MUSE	.	ATCCCAGAACG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	.	.	ENSP00000381412	.	9/19	.	.	.	.	.	.	.	.	.	9/19	nonpreferredpair	ENST00000398376	Transcript	.	.	ENSG00000070808	1460	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	KCC2A_HUMAN	CAMK2A	HGNC	D6RHX9_HUMAN,D6RFJ0_HUMAN,A8K161_HUMAN	.	UPI0000161115	SNV	CAMK2A,missense_variant,p.Trp214Arg,ENST00000348628,;CAMK2A,missense_variant,p.Trp214Arg,ENST00000398376,;CAMK2A,downstream_gene_variant,,ENST00000515758,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000508662,;	644	148	158	SUCCESS
FAT2	2196	.	GRCh37	5	150947398	150947398	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	38	151	0	ENST00000261800.5:c.1095T>A	p.Ala365=	p.A365=	ENST00000261800	NM_001447.2	365	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4317.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACAGCCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	nonpreferredpair	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	1108	151	195	SUCCESS
TENM2	57451	.	GRCh37	5	167625964	167625964	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770204553	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	100	0	ENST00000518659.1:c.3007G>A	p.Ala1003Thr	p.A1003T	ENST00000518659	NM_001122679.1	1003	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	3007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACGCCATG	NONE	byFrequency	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Superfamily_domains:SSF49464	.	.	ENSP00000429430	.	16/29	.	.	.	.	.	.	.	.	rs770204553	16/29	nonpreferredpair	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.592)	.	tolerated(0.11)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Ala1003Thr,ENST00000545108,;TENM2,missense_variant,p.Ala771Thr,ENST00000520394,;TENM2,missense_variant,p.Ala882Thr,ENST00000519204,;TENM2,missense_variant,p.Ala1003Thr,ENST00000518659,;TENM2,missense_variant,p.Ala827Thr,ENST00000403607,;	3046	100	104	SUCCESS
NHP2	55651	.	GRCh37	5	177577899	177577899	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771358605	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	52	0	ENST00000274606.3:c.326C>T	p.Pro109Leu	p.P109L	ENST00000274606	NM_017838.3	109	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4432.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGGGATA	NONE	.	.	hmmpanther:PTHR23105,Pfam_domain:PF01248,Gene3D:3.30.1330.30,Superfamily_domains:SSF55315,Prints_domain:PR00883,Prints_domain:PR00881	.	.	ENSP00000274606	.	3/4	.	.	.	.	.	.	.	.	rs771358605	3/4	nonpreferredpair	ENST00000274606	Transcript	1	.	ENSG00000145912	14377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NHP2_HUMAN	NHP2	HGNC	.	.	UPI0000070B03	SNV	NHP2,missense_variant,p.Pro109Leu,ENST00000511078,;NHP2,missense_variant,p.Pro109Leu,ENST00000274606,;NHP2,missense_variant,p.Pro109Leu,ENST00000514354,;NHP2,missense_variant,p.Pro62Leu,ENST00000502263,;NHP2,intron_variant,,ENST00000314397,;RMND5B,downstream_gene_variant,,ENST00000313386,;RMND5B,downstream_gene_variant,,ENST00000542098,;RMND5B,downstream_gene_variant,,ENST00000515098,;RMND5B,downstream_gene_variant,,ENST00000513162,;RMND5B,downstream_gene_variant,,ENST00000507575,;NHP2,downstream_gene_variant,,ENST00000510363,;RMND5B,downstream_gene_variant,,ENST00000515360,;RMND5B,downstream_gene_variant,,ENST00000507937,;	476	52	48	SUCCESS
ZFP62	643836	.	GRCh37	5	180276368	180276368	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	75	0	ENST00000502412.1:c.2127T>G	p.Ala709=	p.A709=	ENST00000502412	NM_001172638.1	709	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54955.1	2127	MUTECT|MUSE|VARSCANS	.	AAAAAAGCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF15,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000423820	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000502412	Transcript	.	.	ENSG00000196670	23241	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFP62_HUMAN	ZFP62	HGNC	J3QSW3_HUMAN,D6RCF6_HUMAN,D6RBG3_HUMAN,D6R9C0_HUMAN	.	UPI0001C53D24	SNV	ZFP62,synonymous_variant,p.%3D,ENST00000512132,;ZFP62,synonymous_variant,p.%3D,ENST00000359141,;ZFP62,synonymous_variant,p.%3D,ENST00000502412,;ZFP62,downstream_gene_variant,,ENST00000504225,;ZFP62,downstream_gene_variant,,ENST00000506439,;ZFP62,downstream_gene_variant,,ENST00000509066,;ZFP62,intron_variant,,ENST00000506377,;ZFP62,non_coding_transcript_exon_variant,,ENST00000507843,;	2185	75	87	SUCCESS
DHX29	54505	.	GRCh37	5	54586093	54586096	+	frameshift_variant	Frame_Shift_Del	DEL	TTGT	TTGT	-	rs765664094	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	TTGT	TTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	104	21	125	0	ENST00000251636.5:c.857_860del	p.Asn286SerfsTer11	p.N286Sfs*11	ENST00000251636	NM_019030.2	286	aACAAg/ag	0	.	.	.	.	.	-	NK/X	protein_coding	YES	CCDS34158.1	857-860	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTGCTTGTTTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18934:SF82,hmmpanther:PTHR18934	.	.	ENSP00000251636	.	7/27	.	.	.	.	.	.	.	.	rs765664094	7/27	nonpreferredpair	ENST00000251636	Transcript	.	.	ENSG00000067248	15815	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX29_HUMAN	DHX29	HGNC	.	.	UPI00001AE72C	deletion	DHX29,frameshift_variant,p.Asn286SerfsTer11,ENST00000251636,;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	1006-1009	125	125	SUCCESS
OCLN	100506658	.	GRCh37	5	68800058	68800058	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs768413722	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	266	19	296	0	ENST00000355237.2:c.-14A>G		p.*5*	ENST00000355237	NM_002538.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4006.1	.	MUTECT|MUSE	.	TGACCATTGAC	NONE	byFrequency	.	.	.	.	ENSP00000347379	.	2/9	.	.	.	.	.	.	.	.	rs768413722	2/9	nonpreferredpair	ENST00000355237	Transcript	1	.	ENSG00000197822	8104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OCLN_HUMAN	OCLN	HGNC	.	.	UPI00000341F0	SNV	OCLN,5_prime_UTR_variant,,ENST00000542132,;OCLN,5_prime_UTR_variant,,ENST00000396442,;OCLN,5_prime_UTR_variant,,ENST00000355237,;OCLN,5_prime_UTR_variant,,ENST00000538151,;OCLN,5_prime_UTR_variant,,ENST00000380766,;RP11-241G9.3,upstream_gene_variant,,ENST00000514270,;GUSBP3,intron_variant,,ENST00000380759,;	423	296	285	SUCCESS
OTP	23440	.	GRCh37	5	76932919	76932919	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	61	0	ENST00000306422.3:c.174G>T	p.Leu58=	p.L58=	ENST00000306422	NM_032109.2	58	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4039.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCAGCAG	NONE	.	.	hmmpanther:PTHR24329:SF274,hmmpanther:PTHR24329	.	.	ENSP00000302814	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000306422	Transcript	.	.	ENSG00000171540	8518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTP_HUMAN	OTP	HGNC	.	.	UPI0000021CAA	SNV	OTP,synonymous_variant,p.%3D,ENST00000306422,;OTP,upstream_gene_variant,,ENST00000515716,;	1313	61	70	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79733274	79733274	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	16	227	0	ENST00000338008.5:c.770A>G	p.His257Arg	p.H257R	ENST00000338008	NM_014733.3	257	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4050.1	770	MUTECT|MUSE	.	GTTTCATGCCA	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43,PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	3/18	.	.	.	.	.	.	.	.	.	3/18	nonpreferredpair	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	deleterious(0.04)	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,missense_variant,p.His257Arg,ENST00000338008,;ZFYVE16,missense_variant,p.His257Arg,ENST00000505560,;ZFYVE16,missense_variant,p.His257Arg,ENST00000510158,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;	950	227	239	SUCCESS
ELOVL2	54898	.	GRCh37	6	10995354	10995354	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs769883226	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	191	0	ENST00000354666.3:c.391A>C	p.Ile131Leu	p.I131L	ENST00000354666	NM_017770.3	131	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4518.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATTGTGT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF16,Pfam_domain:PF01151	.	.	ENSP00000346693	.	5/8	.	.	.	.	.	.	.	.	rs769883226	5/8	nonpreferredpair	ENST00000354666	Transcript	.	.	ENSG00000197977	14416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.18)	.	ELOV2_HUMAN	ELOVL2	HGNC	.	.	UPI0000051C66	SNV	ELOVL2,missense_variant,p.Ile131Leu,ENST00000354666,;	475	191	165	SUCCESS
RFPL4B	442247	.	GRCh37	6	112671285	112671285	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	63	0	ENST00000441065.2:c.375T>A	p.Asp125Glu	p.D125E	ENST00000441065	NM_001013734.2	125	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS34515.1	375	MUTECT|MUSE|VARSCANS	.	CACGATCTGAC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462:SF216,hmmpanther:PTHR25462,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000423391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000441065	Transcript	.	.	ENSG00000251258	33264	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	.	deleterious(0.02)	.	RFPLB_HUMAN	RFPL4B	HGNC	.	.	UPI00001972F0	SNV	RFPL4B,missense_variant,p.Asp125Glu,ENST00000441065,;RP11-506B6.6,non_coding_transcript_exon_variant,,ENST00000587816,;RP11-506B6.6,downstream_gene_variant,,ENST00000585611,;RP11-506B6.6,downstream_gene_variant,,ENST00000585504,;RP11-506B6.6,downstream_gene_variant,,ENST00000590673,;	687	63	52	SUCCESS
TIAM2	26230	.	GRCh37	6	155458347	155458347	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750244093	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	96	0	ENST00000318981.5:c.1231A>T	p.Ser411Cys	p.S411C	ENST00000318981	NM_012454.3	411	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34558.1	1231	MUTECT|MUSE	.	TTGACAGTCGC	NONE	.	.	hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826	.	.	ENSP00000437188	.	7/29	.	.	.	.	.	.	.	.	rs750244093	7/29	nonpreferredpair	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.114)	.	deleterious(0.01)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Ser411Cys,ENST00000528535,;TIAM2,missense_variant,p.Ser411Cys,ENST00000461783,;TIAM2,missense_variant,p.Ser411Cys,ENST00000456144,;TIAM2,missense_variant,p.Ser411Cys,ENST00000318981,;TIAM2,missense_variant,p.Ser411Cys,ENST00000529824,;TIAM2,missense_variant,p.Ser411Cys,ENST00000360366,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;	2504	96	66	SUCCESS
C6orf62	81688	.	GRCh37	6	24718827	24718828	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	130	16	172	0	ENST00000378119.4:c.69dup	p.Glu24ArgfsTer5	p.E24Rfs*5	ENST00000378119	NM_030939.4	23	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS4559.1	69-70	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATTCTTTTT	NONE	.	.	Pfam_domain:PF15130,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000367359	.	1/5	.	.	.	.	.	.	.	.	COSM1442490	1/5	nonpreferredpair	ENST00000378119	Transcript	.	.	ENSG00000112308	20998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	CF062_HUMAN	C6orf62	HGNC	B4DWX7_HUMAN	.	UPI000000DC64	insertion	C6orf62,frameshift_variant,p.Glu24ArgfsTer5,ENST00000378119,;C6orf62,intron_variant,,ENST00000378102,;C6orf62,intron_variant,,ENST00000540769,;	2237-2238	172	146	SUCCESS
SLC17A2	10246	.	GRCh37	6	25917287	25917287	+	synonymous_variant	Silent	SNP	T	T	C	rs200248053	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	60	0	ENST00000265425.3:c.678A>G	p.Leu226=	p.L226=	ENST00000265425		226	ctA/ctG	0	.	C:0.0008	.	C:0	.	C	L	protein_coding	YES	CCDS4567.1	678	MUTECT|MUSE	.	AACCATAGGAG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11662:SF193,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	C:0	.	ENSP00000353677	C:0	7/11	.	.	.	.	.	.	.	.	rs200248053	7/11	nonpreferredpair	ENST00000360488	Transcript	.	C:0.0002	ENSG00000112337	10930	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	NPT3_HUMAN	SLC17A2	HGNC	.	.	UPI0000000DB7	SNV	SLC17A2,synonymous_variant,p.%3D,ENST00000377850,;SLC17A2,synonymous_variant,p.%3D,ENST00000265425,;SLC17A2,synonymous_variant,p.%3D,ENST00000360488,;	1096	60	41	SUCCESS
HIST1H4J	0	.	GRCh37	6	27791909	27791909	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs918002664	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	44	230	0	ENST00000355057.1:c.7G>A	p.Gly3Ser	p.G3S	ENST00000355057	NM_021968.3	3	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS4630.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	.	.	ENSP00000347168	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000355057	Transcript	.	.	ENSG00000197238	4785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.05)	.	H4_HUMAN	HIST1H4J	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4J,missense_variant,p.Gly3Ser,ENST00000355057,;	26	230	187	SUCCESS
EGFL8	80864	.	GRCh37	6	32134918	32134918	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370079247	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	78	0	ENST00000333845.6:c.485C>A	p.Thr162Lys	p.T162K	ENST00000333845	NM_030652.3	162	aCg/aAg	0	T:0.0003	.	.	.	.	A	T/K	protein_coding	YES	CCDS4743.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATACGGCAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50026,hmmpanther:PTHR14949:SF22,hmmpanther:PTHR14949,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	T:0	ENSP00000378888	.	6/9	.	.	.	.	.	.	.	.	rs370079247	6/9	nonpreferredpair	ENST00000395512	Transcript	.	.	ENSG00000241404	13944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0)	.	EGFL8_HUMAN	EGFL8	HGNC	.	.	UPI000006FB40	SNV	EGFL8,missense_variant,p.Thr162Lys,ENST00000395512,;EGFL8,missense_variant,p.Thr162Lys,ENST00000333845,;EGFL8,splice_region_variant,,ENST00000432129,;AGPAT1,downstream_gene_variant,,ENST00000395496,;PPT2,downstream_gene_variant,,ENST00000395523,;PPT2,downstream_gene_variant,,ENST00000324816,;AGPAT1,downstream_gene_variant,,ENST00000375107,;AGPAT1,downstream_gene_variant,,ENST00000395499,;AGPAT1,downstream_gene_variant,,ENST00000375104,;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000395497,;AGPAT1,downstream_gene_variant,,ENST00000336984,;PPT2,downstream_gene_variant,,ENST00000361568,;PPT2,downstream_gene_variant,,ENST00000375137,;AGPAT1,downstream_gene_variant,,ENST00000412465,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;PPT2,downstream_gene_variant,,ENST00000493548,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,upstream_gene_variant,,ENST00000489721,;AGPAT1,downstream_gene_variant,,ENST00000476663,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000428388,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000583227,;EGFL8,non_coding_transcript_exon_variant,,ENST00000482938,;EGFL8,non_coding_transcript_exon_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;	590	78	77	SUCCESS
ZNF76	7629	.	GRCh37	6	35255576	35255576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	56	0	ENST00000373953.3:c.386G>T	p.Gly129Val	p.G129V	ENST00000373953	NM_003427.3	129	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4801.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCTTCA	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448	.	.	ENSP00000363064	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000373953	Transcript	.	.	ENSG00000065029	13149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.08)	.	ZNF76_HUMAN	ZNF76	HGNC	E7EX64_HUMAN	.	UPI000013C41C	SNV	ZNF76,missense_variant,p.Gly129Val,ENST00000469195,;ZNF76,missense_variant,p.Gly103Val,ENST00000440666,;ZNF76,missense_variant,p.Gly129Val,ENST00000339411,;ZNF76,missense_variant,p.Gly129Val,ENST00000373953,;ZNF76,missense_variant,p.Gly129Val,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000486891,;ZNF76,non_coding_transcript_exon_variant,,ENST00000491400,;ZNF76,downstream_gene_variant,,ENST00000484932,;ZNF76,upstream_gene_variant,,ENST00000479226,;ZNF76,downstream_gene_variant,,ENST00000460229,;	652	56	46	SUCCESS
TFAP2B	7021	.	GRCh37	6	50791246	50791246	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	32	161	0	ENST00000393655.3:c.208T>G	p.Phe70Val	p.F70V	ENST00000393655	NM_003221.3	70	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS4934.2	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACTTCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812	.	.	ENSP00000377265	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000393655	Transcript	.	.	ENSG00000008196	11743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious(0)	.	AP2B_HUMAN	TFAP2B	HGNC	A8K557_HUMAN	.	UPI000020DE90	SNV	TFAP2B,missense_variant,p.Phe70Val,ENST00000393655,;TFAP2B,missense_variant,p.Phe79Val,ENST00000263046,;TFAP2B,missense_variant,p.Phe68Val,ENST00000344788,;TFAP2B,non_coding_transcript_exon_variant,,ENST00000489228,;	377	161	122	SUCCESS
NYAP1	222950	.	GRCh37	7	100086033	100086033	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	89	0	ENST00000300179.2:c.689G>C	p.Ser230Thr	p.S230T	ENST00000300179	NM_173564.3	230	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS5696.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAAGTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	.	.	ENSP00000300179	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.31)	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,missense_variant,p.Ser173Thr,ENST00000454988,;NYAP1,missense_variant,p.Ser230Thr,ENST00000423930,;NYAP1,missense_variant,p.Ser230Thr,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	848	89	101	SUCCESS
CYP2W1	54905	.	GRCh37	7	1024648	1024648	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778191648	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	41	0	ENST00000308919.7:c.400C>T	p.His134Tyr	p.H134Y	ENST00000308919	NM_017781.2	134	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS5319.2	400	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCACAGC	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF50,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000310149	.	3/9	.	.	.	.	.	.	.	.	rs778191648	3/9	nonpreferredpair	ENST00000308919	Transcript	.	.	ENSG00000073067	20243	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	CP2W1_HUMAN	CYP2W1	HGNC	.	.	UPI000013C59A	SNV	CYP2W1,missense_variant,p.His78Tyr,ENST00000340150,;CYP2W1,missense_variant,p.His134Tyr,ENST00000308919,;CYP2W1,upstream_gene_variant,,ENST00000415893,;CYP2W1,upstream_gene_variant,,ENST00000468456,;CYP2W1,upstream_gene_variant,,ENST00000462453,;	413	41	60	SUCCESS
KCP	375616	.	GRCh37	7	128520499	128520499	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	rs769065978	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	14	112	0	ENST00000476647.2:n.3743T>A		p.*1248*	ENST00000476647				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	CATGCAGGAGC	NONE	.	.	.	.	.	.	.	34/40	.	.	.	.	.	.	.	.	rs769065978	34/40	nonpreferredpair	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000492679,;KCP,upstream_gene_variant,,ENST00000460528,;	3743	112	159	SUCCESS
NUP205	23165	.	GRCh37	7	135303347	135303347	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	50	0	ENST00000285968.6:c.3959A>C	p.Asp1320Ala	p.D1320A	ENST00000285968	NM_015135.2	1320	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS34759.1	3959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGATAAGG	NONE	.	.	hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	.	.	ENSP00000285968	.	28/43	.	.	.	.	.	.	.	.	.	28/43	nonpreferredpair	ENST00000285968	Transcript	.	.	ENSG00000155561	18658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.51)	.	NU205_HUMAN	NUP205	HGNC	Q6P486_HUMAN,Q6DKH1_HUMAN	.	UPI00001D74D8	SNV	NUP205,missense_variant,p.Asp1320Ala,ENST00000285968,;NUP205,downstream_gene_variant,,ENST00000472132,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,downstream_gene_variant,,ENST00000463247,;NUP205,upstream_gene_variant,,ENST00000477620,;	3985	50	70	SUCCESS
PRSS1	5644	.	GRCh37	7	142460310	142460310	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	417	17	337	0	ENST00000311737.7:c.483G>A	p.Leu161=	p.L161=	ENST00000311737	NM_002769.4	161	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5872.1	483	MUTECT|MUSE	.	TGCCTGGATGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,synonymous_variant,p.%3D,ENST00000486171,;PRSS1,synonymous_variant,p.%3D,ENST00000311737,;PRSS1,synonymous_variant,p.%3D,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	489	337	434	SUCCESS
ZNF212	7988	.	GRCh37	7	148949877	148949877	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	43	0	ENST00000335870.2:c.622G>A	p.Ala208Thr	p.A208T	ENST00000335870	NM_012256.3	208	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5896.1	622	MUTECT|MUSE	.	GTGGTGCCCAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50805,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF42	.	.	ENSP00000338572	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000335870	Transcript	.	.	ENSG00000170260	13004	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.47)	.	ZN212_HUMAN	ZNF212	HGNC	.	.	UPI000013CEE2	SNV	ZNF212,missense_variant,p.Ala122Thr,ENST00000481584,;ZNF212,missense_variant,p.Ala208Thr,ENST00000335870,;ZNF212,3_prime_UTR_variant,,ENST00000488917,;ZNF212,downstream_gene_variant,,ENST00000462724,;ZNF212,downstream_gene_variant,,ENST00000486371,;	750	43	77	SUCCESS
CHPF2	54480	.	GRCh37	7	150935740	150935740	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	42	0	ENST00000035307.2:c.2292T>A	p.Phe764Leu	p.F764L	ENST00000035307	NM_019015.1	764	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS34779.1	2292	RADIA|MUTECT|MUSE	.	CTCTTTGAGCA	NONE	.	.	hmmpanther:PTHR12369:SF14,hmmpanther:PTHR12369	.	.	ENSP00000035307	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000035307	Transcript	.	.	ENSG00000033100	29270	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.338)	.	deleterious(0.01)	.	CHPF2_HUMAN	CHPF2	HGNC	.	.	UPI000003F537	SNV	CHPF2,missense_variant,p.Phe764Leu,ENST00000035307,;CHPF2,missense_variant,p.Phe756Leu,ENST00000495645,;CHPF2,downstream_gene_variant,,ENST00000482173,;SMARCD3,downstream_gene_variant,,ENST00000491651,;SMARCD3,downstream_gene_variant,,ENST00000262188,;SMARCD3,downstream_gene_variant,,ENST00000392811,;SMARCD3,downstream_gene_variant,,ENST00000356800,;MIR671,downstream_gene_variant,,ENST00000390183,;RP4-548D19.3,upstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,downstream_gene_variant,,ENST00000496530,;SMARCD3,downstream_gene_variant,,ENST00000460431,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000485592,;SMARCD3,downstream_gene_variant,,ENST00000472988,;SMARCD3,downstream_gene_variant,,ENST00000472103,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000485610,;CHPF2,downstream_gene_variant,,ENST00000465601,;SMARCD3,downstream_gene_variant,,ENST00000472789,;	3805	42	60	SUCCESS
EEPD1	80820	.	GRCh37	7	36336619	36336619	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	19	77	0	ENST00000242108.4:c.1333A>G	p.Ile445Val	p.I445V	ENST00000242108	NM_030636.2	445	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34619.1	1333	RADIA|MUTECT|MUSE|VARSCANS	.	TCATTATCTTA	NONE	.	.	Superfamily_domains:SSF56219,Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR21180,hmmpanther:PTHR21180:SF32	.	.	ENSP00000242108	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000242108	Transcript	.	.	ENSG00000122547	22223	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.85)	.	EEPD1_HUMAN	EEPD1	HGNC	.	.	UPI000020ED9D	SNV	EEPD1,missense_variant,p.Ile445Val,ENST00000242108,;EEPD1,missense_variant,p.Ile445Val,ENST00000534978,;EEPD1,upstream_gene_variant,,ENST00000444777,;EEPD1,non_coding_transcript_exon_variant,,ENST00000468591,;EEPD1,non_coding_transcript_exon_variant,,ENST00000487069,;	2051	77	149	SUCCESS
TNS3	64759	.	GRCh37	7	47342556	47342556	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199534852	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	87	0	ENST00000311160.9:c.3449C>T	p.Pro1150Leu	p.P1150L	ENST00000311160	NM_022748.11	1150	cCt/cTt	0	A:0	.	.	.	.	A	P/L	protein_coding	YES	CCDS5506.2	3449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGTGAG	NONE	byCluster	.	hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	A:0.0005	ENSP00000381854	.	22/31	.	.	.	.	.	.	.	.	rs199534852	22/31	nonpreferredpair	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	deleterious(0.05)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Pro1150Leu,ENST00000398879,;TNS3,missense_variant,p.Pro1150Leu,ENST00000311160,;TNS3,missense_variant,p.Pro910Leu,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000457718,;	3816	87	120	SUCCESS
TBL2	26608	.	GRCh37	7	72985569	72985569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	25	104	0	ENST00000305632.5:c.828G>T	p.Lys276Asn	p.K276N	ENST00000305632	NM_012453.2	276	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5551.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCTTTAG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF380,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000307260	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000305632	Transcript	.	.	ENSG00000106638	11586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	TBL2_HUMAN	TBL2	HGNC	F2Z3G3_HUMAN,B4DY59_HUMAN	.	UPI0000048EF4	SNV	TBL2,missense_variant,p.Lys240Asn,ENST00000432538,;TBL2,missense_variant,p.Lys276Asn,ENST00000305632,;TBL2,downstream_gene_variant,,ENST00000452475,;TBL2,non_coding_transcript_exon_variant,,ENST00000459913,;TBL2,downstream_gene_variant,,ENST00000465279,;TBL2,downstream_gene_variant,,ENST00000468669,;TBL2,downstream_gene_variant,,ENST00000476136,;TBL2,downstream_gene_variant,,ENST00000479892,;TBL2,3_prime_UTR_variant,,ENST00000450285,;TBL2,3_prime_UTR_variant,,ENST00000426966,;TBL2,3_prime_UTR_variant,,ENST00000424598,;TBL2,3_prime_UTR_variant,,ENST00000417008,;TBL2,3_prime_UTR_variant,,ENST00000433464,;TBL2,non_coding_transcript_exon_variant,,ENST00000488915,;TBL2,downstream_gene_variant,,ENST00000496056,;TBL2,downstream_gene_variant,,ENST00000437521,;TBL2,downstream_gene_variant,,ENST00000435792,;TBL2,downstream_gene_variant,,ENST00000458466,;TBL2,downstream_gene_variant,,ENST00000495885,;TBL2,downstream_gene_variant,,ENST00000452125,;TBL2,downstream_gene_variant,,ENST00000469518,;	1070	104	135	SUCCESS
PCLO	27445	.	GRCh37	7	82764470	82764470	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1428811438	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	14	200	0	ENST00000333891.9:c.2396C>G	p.Ser799Cys	p.S799C	ENST00000333891	NM_033026.5	799	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS47630.1	2396	MUTECT|MUSE	.	TGGCAGAGTCT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	.	3/25	nonpreferredpair	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ser799Cys,ENST00000333891,;PCLO,missense_variant,p.Ser799Cys,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2734	200	223	SUCCESS
SEMA3A	10371	.	GRCh37	7	83643565	83643565	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	84	0	ENST00000265362.4:c.770C>A	p.Ser257Tyr	p.S257Y	ENST00000265362	NM_006080.2	257	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5599.1	770	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGAGTGT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	7/17	.	.	.	.	.	.	.	.	COSM3641710	7/17	nonpreferredpair	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.32)	.	tolerated(0.05)	1	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Ser257Tyr,ENST00000265362,;SEMA3A,missense_variant,p.Ser257Tyr,ENST00000436949,;	1085	84	98	SUCCESS
DMTF1	9988	.	GRCh37	7	86824435	86824435	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	46	186	0	ENST00000331242.7:c.2262A>T	p.Glu754Asp	p.E754D	ENST00000331242	NM_001142326.1	754	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS5601.1	2262	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGAAGATTT	NONE	.	.	.	.	.	ENSP00000378193	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000394703	Transcript	.	.	ENSG00000135164	14603	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.11)	.	DMTF1_HUMAN	DMTF1	HGNC	J3KRC1_HUMAN,D6W5P0_HUMAN,C9K0L9_HUMAN,C9K0K9_HUMAN,C9JZZ6_HUMAN,C9JVQ7_HUMAN,C9JLR5_HUMAN,C9JGT5_HUMAN,C9JFR2_HUMAN,C9JED5_HUMAN,C9J8Y5_HUMAN,C9J4F7_HUMAN,B3KVS2_HUMAN	.	UPI000006FB78	SNV	DMTF1,missense_variant,p.Glu754Asp,ENST00000394703,;DMTF1,missense_variant,p.Glu488Asp,ENST00000414194,;DMTF1,missense_variant,p.Lys174Met,ENST00000454008,;DMTF1,missense_variant,p.Glu666Asp,ENST00000432937,;DMTF1,missense_variant,p.Glu684Asp,ENST00000413276,;DMTF1,missense_variant,p.Glu754Asp,ENST00000331242,;TMEM243,downstream_gene_variant,,ENST00000257637,;TMEM243,downstream_gene_variant,,ENST00000433078,;TMEM243,downstream_gene_variant,,ENST00000423734,;DMTF1,downstream_gene_variant,,ENST00000582204,;TMEM243,downstream_gene_variant,,ENST00000481425,;TMEM243,downstream_gene_variant,,ENST00000465976,;DMTF1,3_prime_UTR_variant,,ENST00000447863,;DMTF1,3_prime_UTR_variant,,ENST00000412139,;DMTF1,3_prime_UTR_variant,,ENST00000579677,;DMTF1,3_prime_UTR_variant,,ENST00000579850,;DMTF1,3_prime_UTR_variant,,ENST00000425406,;DMTF1,3_prime_UTR_variant,,ENST00000547146,;DMTF1,non_coding_transcript_exon_variant,,ENST00000580010,;DMTF1,non_coding_transcript_exon_variant,,ENST00000488352,;TMEM243,downstream_gene_variant,,ENST00000492231,;DMTF1,downstream_gene_variant,,ENST00000480982,;TMEM243,downstream_gene_variant,,ENST00000474074,;DMTF1,downstream_gene_variant,,ENST00000580803,;DMTF1,downstream_gene_variant,,ENST00000584619,;	2825	186	255	SUCCESS
ZNF804B	219578	.	GRCh37	7	88964910	88964910	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	33	179	0	ENST00000333190.4:c.2614C>A	p.Gln872Lys	p.Q872K	ENST00000333190	NM_181646.2	872	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS5613.1	2614	RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCAAGAG	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	COSM3431837	4/4	nonpreferredpair	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.004)	.	tolerated(0.83)	1	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Gln872Lys,ENST00000333190,;	3223	179	255	SUCCESS
ANKIB1	54467	.	GRCh37	7	92027849	92027849	+	synonymous_variant	Silent	SNP	A	A	G	rs374467744	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	82	0	ENST00000265742.3:c.2856A>G	p.Ser952=	p.S952=	ENST00000265742	NM_019004.1	952	tcA/tcG	0	G:0.0002	.	.	.	.	G	S	protein_coding	YES	CCDS47639.1	2856	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCATCTAG	NONE	byCluster	.	Low_complexity_(Seg):seg	.	G:0	ENSP00000265742	.	20/20	.	.	.	.	.	.	.	.	rs374467744	20/20	nonpreferredpair	ENST00000265742	Transcript	.	.	ENSG00000001629	22215	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKIB1_HUMAN	ANKIB1	HGNC	Q4VBX8_HUMAN,C9JZ63_HUMAN	.	UPI00001C1E7C	SNV	ANKIB1,synonymous_variant,p.%3D,ENST00000265742,;ANKIB1,3_prime_UTR_variant,,ENST00000422095,;ANKIB1,downstream_gene_variant,,ENST00000465883,;	3232	82	115	SUCCESS
TRRAP	8295	.	GRCh37	7	98580989	98580989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1399228248	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	34	124	0	ENST00000359863.4:c.8908G>A	p.Val2970Met	p.V2970M	ENST00000359863	NM_001244580.1	2970	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS59066.1	8908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACGGTGGTG	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Pfam_domain:PF02259	.	.	ENSP00000352925	.	59/72	.	.	.	.	.	.	.	.	.	59/72	nonpreferredpair	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,missense_variant,p.Val2952Met,ENST00000355540,;TRRAP,missense_variant,p.Val2952Met,ENST00000446306,;TRRAP,missense_variant,p.Val2692Met,ENST00000456197,;TRRAP,missense_variant,p.Val2970Met,ENST00000359863,;	9117	124	169	SUCCESS
RNF19A	25897	.	GRCh37	8	101271389	101271389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	45	0	ENST00000341084.2:c.1912G>T	p.Asp638Tyr	p.D638Y	ENST00000341084	NM_183419.3	638	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6286.1	1912	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCATCCA	NONE	.	.	.	.	.	ENSP00000428968	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000519449	Transcript	.	.	ENSG00000034677	13432	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.629)	.	deleterious_low_confidence(0)	.	RN19A_HUMAN	RNF19A	HGNC	E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN	.	UPI000013D5E6	SNV	RNF19A,missense_variant,p.Asp638Tyr,ENST00000519449,;RNF19A,missense_variant,p.Asp638Tyr,ENST00000341084,;SPAG1,non_coding_transcript_exon_variant,,ENST00000519409,;RNF19A,non_coding_transcript_exon_variant,,ENST00000523255,;RNF19A,downstream_gene_variant,,ENST00000523644,;RNF19A,non_coding_transcript_exon_variant,,ENST00000520903,;RNF19A,downstream_gene_variant,,ENST00000520071,;	2229	45	36	SUCCESS
CSMD3	114788	.	GRCh37	8	113519059	113519059	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs770781490	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	8	137	0	ENST00000297405.5:c.4757-1G>T		p.X1586_splice	ENST00000297405	NM_198123.1	1586		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE	.	GGGTGCTTTAA	NONE	.	.	.	.	.	ENSP00000297405	.	.	.	.	.	.	.	.	.	.	rs770781490	.	nonpreferredpair	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	28/70	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,splice_acceptor_variant,,ENST00000352409,;CSMD3,splice_acceptor_variant,,ENST00000455883,;CSMD3,splice_acceptor_variant,,ENST00000297405,;CSMD3,splice_acceptor_variant,,ENST00000339701,;CSMD3,splice_acceptor_variant,,ENST00000343508,;	.	137	110	SUCCESS
NOV	0	.	GRCh37	8	120430376	120430376	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	91	0	ENST00000259526.3:c.389A>G	p.Gln130Arg	p.Q130R	ENST00000259526	NM_002514.3	130	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS6328.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGTGCA	NONE	.	.	Superfamily_domains:SSF57603,PIRSF_domain:PIRSF036495,SMART_domains:SM00214,Pfam_domain:PF00093,PROSITE_patterns:PS01208,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS50184	.	.	ENSP00000259526	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.03)	.	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,missense_variant,p.Gln130Arg,ENST00000259526,;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	616	91	88	SUCCESS
DENND3	22898	.	GRCh37	8	142176419	142176419	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs556706834	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	50	0	ENST00000262585.2:c.1444C>A	p.Pro482Thr	p.P482T	ENST00000262585	NM_014957.2	482	Cct/Act	0	.	A:0	.	A:0.0014	.	A	P/T	protein_coding	YES	CCDS34947.1	1444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCCTGAG	NONE	by1000G	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	A:0	.	ENSP00000262585	A:0	12/23	.	.	.	.	.	.	.	.	rs556706834	12/23	nonpreferredpair	ENST00000262585	Transcript	.	A:0.0002	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	A:0	tolerated(0.21)	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Pro562Thr,ENST00000519811,;DENND3,missense_variant,p.Pro430Thr,ENST00000424248,;DENND3,missense_variant,p.Pro482Thr,ENST00000262585,;DENND3,missense_variant,p.Pro487Thr,ENST00000518668,;DENND3,downstream_gene_variant,,ENST00000521477,;DENND3,non_coding_transcript_exon_variant,,ENST00000520482,;	1722	50	42	SUCCESS
OPLAH	26873	.	GRCh37	8	145113709	145113709	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868953913	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	44	0	ENST00000426825.1:c.554G>A	p.Arg185His	p.R185H	ENST00000426825	NM_017570.3	185	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	.	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCGGATG	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF05378	.	.	ENSP00000475943	.	5/28	.	.	.	.	.	.	.	.	.	5/28	nonpreferredpair	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.02)	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,missense_variant,p.Arg185His,ENST00000426825,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000567871,;OPLAH,upstream_gene_variant,,ENST00000527993,;OPLAH,upstream_gene_variant,,ENST00000531027,;	636	44	45	SUCCESS
KCNU1	157855	.	GRCh37	8	36666269	36666269	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	127	0	ENST00000399881.3:c.690A>C	p.Ile230=	p.I230=	ENST00000399881	NM_001031836.2	230	atA/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS55220.1	690	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATAATTCT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	7/27	.	.	.	.	.	.	.	.	.	7/27	nonpreferredpair	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,synonymous_variant,p.%3D,ENST00000523973,;KCNU1,synonymous_variant,p.%3D,ENST00000399881,;KCNU1,synonymous_variant,p.%3D,ENST00000522372,;KCNU1,downstream_gene_variant,,ENST00000522417,;	727	127	86	SUCCESS
XKR4	114786	.	GRCh37	8	56015167	56015167	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	67	0	ENST00000327381.6:c.119C>A	p.Ser40Ter	p.S40*	ENST00000327381	NM_052898.1	40	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS34893.1	119	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTCGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,stop_gained,p.Ser40Ter,ENST00000327381,;	219	67	80	SUCCESS
OR13D1	286365	.	GRCh37	9	107457351	107457351	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	32	146	0	ENST00000318763.5:c.649C>T	p.Leu217=	p.L217=	ENST00000318763	NM_001004484.1	217	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35094.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCTAAAA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF129,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000317357	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000318763	Transcript	.	.	ENSG00000179055	14695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O13D1_HUMAN	OR13D1	HGNC	.	.	UPI0000061E68	SNV	OR13D1,synonymous_variant,p.%3D,ENST00000318763,;	692	146	141	SUCCESS
WDR31	114987	.	GRCh37	9	116085393	116085393	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756404364	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	95	0	ENST00000374193.4:c.367C>T	p.Arg123Cys	p.R123C	ENST00000374193	NM_145241.3	123	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS35110.1	367	MUTECT|MUSE	.	GTCACGAGAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19869,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000363308	.	6/11	.	.	.	.	.	.	.	.	rs756404364	6/11	nonpreferredpair	ENST00000374193	Transcript	.	.	ENSG00000148225	21421	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WDR31_HUMAN	WDR31	HGNC	G5E996_HUMAN	.	UPI000006D080	SNV	WDR31,missense_variant,p.Arg55Cys,ENST00000465979,;WDR31,missense_variant,p.Arg122Cys,ENST00000341761,;WDR31,missense_variant,p.Arg123Cys,ENST00000374193,;WDR31,5_prime_UTR_variant,,ENST00000374195,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,3_prime_UTR_variant,,ENST00000465205,;	614	95	93	SUCCESS
URM1	81605	.	GRCh37	9	131151593	131151593	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	59	0	ENST00000372853.4:c.237+5G>T		p.X79_splice	ENST00000372853	NM_001265582.1	79		0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS48035.1	242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGTACCT	NONE	.	.	HAMAP:MF_03048	.	.	ENSP00000412922	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000452446	Transcript	.	.	ENSG00000167118	28378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious(0)	.	URM1_HUMAN	URM1	HGNC	.	.	UPI00017A7D83	SNV	URM1,missense_variant,p.Ser81Ile,ENST00000452446,;URM1,splice_region_variant,,ENST00000372853,;URM1,3_prime_UTR_variant,,ENST00000372850,;URM1,downstream_gene_variant,,ENST00000372847,;RP11-339B21.11,upstream_gene_variant,,ENST00000609303,;MIR219-2,downstream_gene_variant,,ENST00000385220,;MIR219-2,downstream_gene_variant,,ENST00000608502,;URM1,non_coding_transcript_exon_variant,,ENST00000483206,;URM1,splice_region_variant,,ENST00000470840,;	304	59	68	SUCCESS
C9orf9	0	.	GRCh37	9	135763682	135763682	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	28	101	0	ENST00000356311.5:c.353C>G	p.Pro118Arg	p.P118R	ENST00000356311		118	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS6955.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCCTCATG	NONE	.	.	hmmpanther:PTHR32455,Pfam_domain:PF15120	.	.	ENSP00000298546	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000350499	Transcript	.	.	ENSG00000165698	1367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	deleterious(0.01)	.	CI009_HUMAN	C9orf9	HGNC	.	.	UPI0000049CA1	SNV	C9orf9,missense_variant,p.Pro118Arg,ENST00000372136,;C9orf9,missense_variant,p.Pro118Arg,ENST00000350499,;C9orf9,missense_variant,p.Pro118Arg,ENST00000356311,;TSC1,downstream_gene_variant,,ENST00000298552,;TSC1,downstream_gene_variant,,ENST00000545250,;TSC1,downstream_gene_variant,,ENST00000440111,;	507	101	140	SUCCESS
BICD2	23299	.	GRCh37	9	95526969	95526969	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780000539	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	22	0	ENST00000375512.3:c.58G>A	p.Glu20Lys	p.E20K	ENST00000375512	NM_015250.3	20	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS35064.1	58	RADIA|VARSCANS	.	CCACTCCGGCT	NONE	byFrequency	.	hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7	.	.	ENSP00000349351	.	1/7	.	.	.	.	.	.	.	.	rs780000539	1/7	nonpreferredpair	ENST00000356884	Transcript	.	.	ENSG00000185963	17208	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.311)	.	tolerated(0.16)	.	BICD2_HUMAN	BICD2	HGNC	.	.	UPI00001BBAF1	SNV	BICD2,missense_variant,p.Glu20Lys,ENST00000375512,;BICD2,missense_variant,p.Glu20Lys,ENST00000356884,;	126	22	30	SUCCESS
DCAF12L1	139170	.	GRCh37	X	125685427	125685427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762351703	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	71	0	ENST00000371126.1:c.1165G>A	p.Ala389Thr	p.A389T	ENST00000371126	NM_178470.4	389	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS14610.1	1165	MUTECT|MUSE|VARSCANS	.	GGTGGCGGAGG	NONE	byFrequency	.	hmmpanther:PTHR19860:SF9,hmmpanther:PTHR19860	.	.	ENSP00000360167	.	1/2	.	.	.	.	.	.	.	.	rs762351703	1/2	nonpreferredpair	ENST00000371126	Transcript	.	.	ENSG00000198889	29395	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.43)	.	DC121_HUMAN	DCAF12L1	HGNC	.	.	UPI0000160112	SNV	DCAF12L1,missense_variant,p.Ala389Thr,ENST00000371126,;	1408	71	88	SUCCESS
SLITRK4	139065	.	GRCh37	X	142717871	142717871	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1602931314	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	78	0	ENST00000338017.4:c.1054C>A	p.Pro352Thr	p.P352T	ENST00000338017		352	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14679.1	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGGTGTG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	tolerated(0.85)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Pro352Thr,ENST00000381779,;SLITRK4,missense_variant,p.Pro352Thr,ENST00000338017,;SLITRK4,missense_variant,p.Pro352Thr,ENST00000356928,;	1280	78	104	SUCCESS
L1CAM	3897	.	GRCh37	X	153133461	153133461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	25	0	ENST00000370060.1:c.1820T>C	p.Leu607Ser	p.L607S	ENST00000370060	NM_001278116.1	607	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS14733.1	1820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAAGAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	15/29	.	.	.	.	.	.	.	.	.	15/29	nonpreferredpair	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	tolerated(0.19)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Leu609Ser,ENST00000538883,;L1CAM,missense_variant,p.Leu65Ser,ENST00000455590,;L1CAM,missense_variant,p.Leu602Ser,ENST00000370055,;L1CAM,missense_variant,p.Leu602Ser,ENST00000361981,;L1CAM,missense_variant,p.Leu609Ser,ENST00000543994,;L1CAM,missense_variant,p.Leu607Ser,ENST00000370057,;L1CAM,missense_variant,p.Leu607Ser,ENST00000370060,;L1CAM,missense_variant,p.Leu607Ser,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,non_coding_transcript_exon_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,downstream_gene_variant,,ENST00000484652,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000460553,;	2010	25	39	SUCCESS
F8	2157	.	GRCh37	X	154158630	154158630	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	17	97	0	ENST00000360256.4:c.3435A>G	p.Pro1145=	p.P1145=	ENST00000360256	NM_000132.3	1145	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS35457.1	3435	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTTGGACT	NONE	.	.	hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,PIRSF_domain:PIRSF000354	.	.	ENSP00000353393	.	14/26	.	.	.	.	.	.	.	.	.	14/26	nonpreferredpair	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,synonymous_variant,p.%3D,ENST00000360256,;	3636	97	120	SUCCESS
DDX3X	1654	.	GRCh37	X	41203644	41203644	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	5	140	0	ENST00000399959.2:c.1017C>T	p.Asp339=	p.D339=	ENST00000399959	NM_001193417.1	339	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS43931.1	1017	MUTECT|MUSE	.	TTAGACTTTTG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF195,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000382840	.	10/17	.	.	.	.	.	.	.	.	.	10/17	nonpreferredpair	ENST00000399959	Transcript	.	.	ENSG00000215301	2745	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX3X_HUMAN	DDX3X	HGNC	Q59GX6_HUMAN	.	UPI000013CB6D	SNV	DDX3X,synonymous_variant,p.%3D,ENST00000399959,;DDX3X,synonymous_variant,p.%3D,ENST00000457138,;DDX3X,3_prime_UTR_variant,,ENST00000542215,;DDX3X,intron_variant,,ENST00000441189,;RN7SL15P,downstream_gene_variant,,ENST00000582825,;DDX3X,non_coding_transcript_exon_variant,,ENST00000478993,;	1872	140	116	SUCCESS
POU3F4	5456	.	GRCh37	X	82763684	82763684	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	89	0	ENST00000373200.2:c.352C>T	p.Pro118Ser	p.P118S	ENST00000373200	NM_000307.4	118	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS14450.1	352	MUTECT|MUSE	.	CCAGCCCGGCA	NONE	.	.	hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF66,PIRSF_domain:PIRSF002629	.	.	ENSP00000362296	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000373200	Transcript	.	.	ENSG00000196767	9217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.41)	.	PO3F4_HUMAN	POU3F4	HGNC	.	.	UPI000045785D	SNV	POU3F4,missense_variant,p.Pro118Ser,ENST00000373200,;RP3-326L13.3,upstream_gene_variant,,ENST00000607789,;RP3-326L13.2,non_coding_transcript_exon_variant,,ENST00000607095,;	416	89	130	SUCCESS
JAKMIP3	282973	.	GRCh37	10	133946888	133946888	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	85	0	ENST00000298622.4:c.706G>T	p.Ala236Ser	p.A236S	ENST00000298622	NM_001105521.2	236	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS44494.1	706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGCTCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935:SF5,hmmpanther:PTHR18935	.	.	ENSP00000298622	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000298622	Transcript	.	.	ENSG00000188385	23523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.13)	.	JKIP3_HUMAN	JAKMIP3	HGNC	.	.	UPI000157482F	SNV	JAKMIP3,missense_variant,p.Ala236Ser,ENST00000298622,;	844	85	71	SUCCESS
OR13A1	79290	.	GRCh37	10	45799015	45799015	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763621429	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	6	84	0	ENST00000374401.2:c.856G>A	p.Ala286Thr	p.A286T	ENST00000374401		286	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31188.1	856	MUTECT|MUSE	.	CCCTGCGCTGT	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF81,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000451950	.	4/4	.	.	.	.	.	.	.	.	rs763621429	4/4	PASS	ENST00000553795	Transcript	.	.	ENSG00000256574	14772	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.68)	.	O13A1_HUMAN	OR13A1	HGNC	.	.	UPI000003FE0F	SNV	OR13A1,missense_variant,p.Ala286Thr,ENST00000374401,;OR13A1,missense_variant,p.Ala286Thr,ENST00000553795,;OR13A1,missense_variant,p.Ala286Thr,ENST00000536058,;	1165	84	84	SUCCESS
PCDH15	65217	.	GRCh37	10	55568592	55568592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	53	231	0	ENST00000395440.1:c.2020T>C	p.Ser674Pro	p.S674P	ENST00000395440		674	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	.	.	2020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGATTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027	.	.	ENSP00000378827	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000395440	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	.	PCDH15	HGNC	A2A3E5_HUMAN,A2A3D9_HUMAN	.	UPI0000EE0486	SNV	PCDH15,missense_variant,p.Ser674Pro,ENST00000395440,;PCDH15,missense_variant,p.Ser1740Pro,ENST00000395445,;PCDH15,missense_variant,p.Ser605Pro,ENST00000395442,;PCDH15,missense_variant,p.Ser936Pro,ENST00000395446,;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	2415	231	196	SUCCESS
DDX50	79009	.	GRCh37	10	70661161	70661161	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753786385	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	67	187	0	ENST00000373585.3:c.21G>T	p.Trp7Cys	p.W7C	ENST00000373585	NM_024045.1	7	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS7283.1	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGGGGGA	NONE	byFrequency	.	hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031	.	.	ENSP00000362687	.	1/15	.	.	.	.	.	.	.	.	rs753786385	1/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious_low_confidence(0.01)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Trp7Cys,ENST00000373585,;DDX50,missense_variant,p.Trp7Cys,ENST00000471475,;DDX50,missense_variant,p.Trp7Cys,ENST00000483593,;	128	187	179	SUCCESS
PATL1	219988	.	GRCh37	11	59416963	59416963	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	63	210	0	ENST00000300146.9:c.1705T>G	p.Leu569Val	p.L569V	ENST00000300146	NM_152716.2	569	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS44613.1	1705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTAAGTTGT	NONE	.	.	hmmpanther:PTHR21551,hmmpanther:PTHR21551:SF2,Pfam_domain:PF09770	.	.	ENSP00000300146	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000300146	Transcript	.	.	ENSG00000166889	26721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	PATL1_HUMAN	PATL1	HGNC	B3KXN0_HUMAN	.	UPI00001FA7D8	SNV	PATL1,missense_variant,p.Leu569Val,ENST00000300146,;PATL1,upstream_gene_variant,,ENST00000531919,;	1790	210	193	SUCCESS
SLCO2B1	11309	.	GRCh37	11	74862203	74862203	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000289575.5:c.-224A>C		p.*75*	ENST00000289575	NM_007256.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8235.1	.	MUTECT|MUSE	.	GGCTGAGTTTG	NONE	.	.	.	.	.	ENSP00000289575	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000289575	Transcript	.	.	ENSG00000137491	10962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SO2B1_HUMAN	SLCO2B1	HGNC	E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN	.	UPI000013DF8A	SNV	SLCO2B1,5_prime_UTR_variant,,ENST00000531756,;SLCO2B1,5_prime_UTR_variant,,ENST00000341411,;SLCO2B1,5_prime_UTR_variant,,ENST00000289575,;SLCO2B1,5_prime_UTR_variant,,ENST00000532236,;SLCO2B1,5_prime_UTR_variant,,ENST00000525650,;SLCO2B1,intron_variant,,ENST00000531713,;SLCO2B1,upstream_gene_variant,,ENST00000454962,;SLCO2B1,upstream_gene_variant,,ENST00000534004,;SLCO2B1,upstream_gene_variant,,ENST00000530556,;SLCO2B1,intron_variant,,ENST00000526660,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000531457,;	172	8	11	SUCCESS
ST5	0	.	GRCh37	11	8732433	8732433	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	53	0	ENST00000534127.1:c.2311G>C	p.Glu771Gln	p.E771Q	ENST00000534127	NM_005418.3	771	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS7791.1	2311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCCCCAG	NONE	.	.	SMART_domains:SM00800,Pfam_domain:PF03456,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF5,PROSITE_profiles:PS50946	.	.	ENSP00000433528	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000534127	Transcript	.	.	ENSG00000166444	11350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.01)	.	ST5_HUMAN	ST5	HGNC	E9PRS6_HUMAN,E9PQM5_HUMAN,E9PPS6_HUMAN,E9PPL2_HUMAN,E9PN93_HUMAN,E9PMP1_HUMAN,E9PMJ9_HUMAN,E9PME1_HUMAN,E9PM32_HUMAN,E9PLH6_HUMAN,E9PLD7_HUMAN,E9PLB6_HUMAN,E9PKM1_HUMAN,E9PKE0_HUMAN,E9PK36_HUMAN,E9PJY5_HUMAN,E9PJP0_HUMAN,E9PII1_HUMAN,E9PI72_HUMAN	.	UPI00001AECB8	SNV	ST5,missense_variant,p.Glu351Gln,ENST00000530438,;ST5,missense_variant,p.Glu243Gln,ENST00000533020,;ST5,missense_variant,p.Glu771Gln,ENST00000357665,;ST5,missense_variant,p.Glu351Gln,ENST00000526757,;ST5,missense_variant,p.Glu771Gln,ENST00000534127,;ST5,missense_variant,p.Glu243Gln,ENST00000530991,;ST5,missense_variant,p.Glu284Gln,ENST00000526099,;ST5,missense_variant,p.Glu771Gln,ENST00000313726,;ST5,downstream_gene_variant,,ENST00000531060,;ST5,upstream_gene_variant,,ENST00000534278,;ST5,downstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000528527,;ST5,downstream_gene_variant,,ENST00000526057,;ST5,downstream_gene_variant,,ENST00000530580,;ST5,downstream_gene_variant,,ENST00000528196,;ST5,upstream_gene_variant,,ENST00000533081,;ST5,downstream_gene_variant,,ENST00000527510,;ST5,non_coding_transcript_exon_variant,,ENST00000526837,;RPL27A,intron_variant,,ENST00000531102,;ST5,downstream_gene_variant,,ENST00000533425,;ST5,3_prime_UTR_variant,,ENST00000530338,;ST5,3_prime_UTR_variant,,ENST00000532734,;ST5,non_coding_transcript_exon_variant,,ENST00000526701,;ST5,intron_variant,,ENST00000530559,;ST5,upstream_gene_variant,,ENST00000532871,;	2697	53	47	SUCCESS
CUX2	23316	.	GRCh37	12	111744860	111744860	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766521721	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	29	0	ENST00000261726.6:c.994G>A	p.Ala332Thr	p.A332T	ENST00000261726	NM_015267.3	332	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41837.1	994	MUTECT|MUSE	.	CATCCGCCAAC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	11/22	.	.	.	.	.	.	.	.	rs766521721	11/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	tolerated(0.09)	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	SNV	CUX2,missense_variant,p.Ala332Thr,ENST00000261726,;AC002979.1,downstream_gene_variant,,ENST00000408459,;	1148	29	40	SUCCESS
NOS1	4842	.	GRCh37	12	117698357	117698357	+	synonymous_variant	Silent	SNP	C	C	G	rs762855792	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	103	0	ENST00000317775.6:c.2280G>C	p.Ala760=	p.A760=	ENST00000317775	NM_000620.4	760	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS55890.1	2280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCGCTTT	NONE	byFrequency	.	Superfamily_domains:SSF52218,PIRSF_domain:PIRSF000333,Gene3D:3.40.50.360,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,PROSITE_profiles:PS50902	.	.	ENSP00000337459	.	13/29	.	.	.	.	.	.	.	.	rs762855792	13/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,synonymous_variant,p.%3D,ENST00000317775,;NOS1,synonymous_variant,p.%3D,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	2285	103	91	SUCCESS
ASUN	0	.	GRCh37	12	27066960	27066960	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	190	68	252	0	ENST00000261191.7:c.1521A>C	p.Lys507Asn	p.K507N	ENST00000261191	NM_018164.2	507	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS8708.1	1521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTTTTCT	NONE	.	.	Pfam_domain:PF10221,hmmpanther:PTHR12955,hmmpanther:PTHR12955:SF1	.	.	ENSP00000261191	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000261191	Transcript	.	.	ENSG00000064102	20174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	deleterious(0)	.	ASUN_HUMAN	ASUN	HGNC	F8VRX9_HUMAN,F5H5W1_HUMAN,F5H457_HUMAN,B4DNK1_HUMAN	.	UPI0000044950	SNV	ASUN,missense_variant,p.Lys221Asn,ENST00000542392,;ASUN,missense_variant,p.Lys154Asn,ENST00000538155,;ASUN,missense_variant,p.Lys507Asn,ENST00000261191,;ASUN,missense_variant,p.Lys406Asn,ENST00000539625,;ASUN,downstream_gene_variant,,ENST00000536232,;	2058	252	259	SUCCESS
CPNE8	144402	.	GRCh37	12	39299407	39299407	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	24	0	ENST00000331366.5:c.-71G>C		p.*24*	ENST00000331366	NM_153634.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8733.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGTCAG	NONE	.	.	.	.	.	ENSP00000329748	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000331366	Transcript	.	.	ENSG00000139117	23498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPNE8_HUMAN	CPNE8	HGNC	Q86VY2_HUMAN	.	UPI000015FF59	SNV	CPNE8,5_prime_UTR_variant,,ENST00000331366,;CPNE8,intron_variant,,ENST00000550863,;CPNE8,intron_variant,,ENST00000360449,;RP11-396F22.1,upstream_gene_variant,,ENST00000551152,;	27	24	21	SUCCESS
ANO6	196527	.	GRCh37	12	45803160	45803160	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776562251	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	78	0	ENST00000320560.8:c.1901G>A	p.Gly634Glu	p.G634E	ENST00000320560	NM_001025356.2	634	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS55819.1	1964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGGCGAT	NONE	.	.	hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000409126	.	17/21	.	.	.	.	.	.	.	.	rs776562251	17/21	PASS	ENST00000423947	Transcript	.	.	ENSG00000177119	25240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.96)	.	ANO6_HUMAN	ANO6	HGNC	.	.	UPI000022935A	SNV	ANO6,missense_variant,p.Gly616Glu,ENST00000441606,;ANO6,missense_variant,p.Gly634Glu,ENST00000320560,;ANO6,missense_variant,p.Gly655Glu,ENST00000423947,;ANO6,missense_variant,p.Gly634Glu,ENST00000435642,;ANO6,missense_variant,p.Gly634Glu,ENST00000425752,;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;	2201	78	69	SUCCESS
MAP3K12	7786	.	GRCh37	12	53875041	53875041	+	synonymous_variant	Silent	SNP	T	T	A	rs1592704503	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	85	0	ENST00000267079.2:c.2505A>T	p.Ser835=	p.S835=	ENST00000267079	NM_006301.3	835	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS55831.1	2604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTGAGTC	NONE	.	.	PIRSF_domain:PIRSF500741,PIRSF_domain:PIRSF038165	.	.	ENSP00000448689	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000547035	Transcript	.	.	ENSG00000139625	6851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K12_HUMAN	MAP3K12	HGNC	H3BMF0_HUMAN	.	UPI00001407EE	SNV	MAP3K12,synonymous_variant,p.%3D,ENST00000547035,;MAP3K12,synonymous_variant,p.%3D,ENST00000267079,;MAP3K12,synonymous_variant,p.%3D,ENST00000547488,;PCBP2,downstream_gene_variant,,ENST00000455667,;PCBP2,downstream_gene_variant,,ENST00000547859,;PCBP2,downstream_gene_variant,,ENST00000359282,;PCBP2,downstream_gene_variant,,ENST00000546463,;PCBP2,downstream_gene_variant,,ENST00000552819,;PCBP2,downstream_gene_variant,,ENST00000552296,;PCBP2,downstream_gene_variant,,ENST00000562264,;PCBP2,downstream_gene_variant,,ENST00000359462,;PCBP2,downstream_gene_variant,,ENST00000437231,;PCBP2,downstream_gene_variant,,ENST00000439930,;PCBP2,downstream_gene_variant,,ENST00000447282,;PCBP2,downstream_gene_variant,,ENST00000548933,;PCBP2,downstream_gene_variant,,ENST00000549863,;PCBP2,downstream_gene_variant,,ENST00000603815,;MAP3K12,3_prime_UTR_variant,,ENST00000552365,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000551511,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547020,;PCBP2,downstream_gene_variant,,ENST00000550585,;PCBP2,downstream_gene_variant,,ENST00000550733,;PCBP2,downstream_gene_variant,,ENST00000547048,;MAP3K12,downstream_gene_variant,,ENST00000548690,;	2809	85	104	SUCCESS
R3HDM2	22864	.	GRCh37	12	57660557	57660557	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	48	0	ENST00000347140.3:c.2046T>A	p.Ser682=	p.S682=	ENST00000347140		682	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8937.2	2046	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGAGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672	.	.	ENSP00000317903	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000347140	Transcript	.	.	ENSG00000179912	29167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HD2_HUMAN	R3HDM2	HGNC	C9J7N6_HUMAN	.	UPI00005A60D3	SNV	R3HDM2,synonymous_variant,p.%3D,ENST00000413953,;R3HDM2,synonymous_variant,p.%3D,ENST00000402412,;R3HDM2,synonymous_variant,p.%3D,ENST00000429355,;R3HDM2,synonymous_variant,p.%3D,ENST00000403821,;R3HDM2,synonymous_variant,p.%3D,ENST00000347140,;R3HDM2,synonymous_variant,p.%3D,ENST00000358907,;R3HDM2,synonymous_variant,p.%3D,ENST00000548161,;R3HDM2,synonymous_variant,p.%3D,ENST00000441731,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000546843,;R3HDM2,downstream_gene_variant,,ENST00000466401,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;	2437	48	49	SUCCESS
VWF	7450	.	GRCh37	12	6145595	6145601	+	frameshift_variant	Frame_Shift_Del	DEL	CTCCTTG	CTCCTTG	-	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	CTCCTTG	CTCCTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	76	0	ENST00000261405.5:c.2499_2505del	p.Lys834MetfsTer7	p.K834Mfs*7	ENST00000261405	NM_000552.3	833	ggCAAGGAG/gg	0	.	.	.	.	.	-	GKE/X	protein_coding	YES	CCDS8539.1	2499-2505	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCATACTCCTTGCCCTG	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002495,SMART_domains:SM00214,SMART_domains:SM00215	.	.	ENSP00000261405	.	19/52	.	.	.	.	.	.	.	.	.	19/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	deletion	VWF,frameshift_variant,p.Lys834MetfsTer7,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;	2754-2760	76	75	SUCCESS
CNOT2	4848	.	GRCh37	12	70732260	70732260	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	54	147	0	ENST00000229195.3:c.938A>G	p.Asp313Gly	p.D313G	ENST00000229195	NM_014515.5	313	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS31857.1	938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGATGGAC	NONE	.	.	hmmpanther:PTHR23326	.	.	ENSP00000229195	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000229195	Transcript	.	.	ENSG00000111596	7878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.42)	.	tolerated(0.27)	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,missense_variant,p.Asp313Gly,ENST00000551043,;CNOT2,missense_variant,p.Asp313Gly,ENST00000552231,;CNOT2,missense_variant,p.Asp176Gly,ENST00000550160,;CNOT2,missense_variant,p.Asp313Gly,ENST00000229195,;CNOT2,missense_variant,p.Asp252Gly,ENST00000552915,;CNOT2,missense_variant,p.Asp313Gly,ENST00000418359,;CNOT2,missense_variant,p.Asp24Gly,ENST00000552599,;CNOT2,missense_variant,p.Asp304Gly,ENST00000548159,;CNOT2,missense_variant,p.Asp123Gly,ENST00000550155,;CNOT2,5_prime_UTR_variant,,ENST00000551483,;CNOT2,downstream_gene_variant,,ENST00000552483,;CNOT2,downstream_gene_variant,,ENST00000550194,;CNOT2,upstream_gene_variant,,ENST00000551710,;CNOT2,upstream_gene_variant,,ENST00000548338,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549947,;CNOT2,downstream_gene_variant,,ENST00000548230,;CNOT2,upstream_gene_variant,,ENST00000548686,;CNOT2,downstream_gene_variant,,ENST00000549443,;CNOT2,missense_variant,p.Asp3Gly,ENST00000546673,;CNOT2,3_prime_UTR_variant,,ENST00000548599,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548939,;CNOT2,upstream_gene_variant,,ENST00000549709,;CNOT2,upstream_gene_variant,,ENST00000551434,;CNOT2,downstream_gene_variant,,ENST00000548021,;CNOT2,downstream_gene_variant,,ENST00000548863,;	1517	147	180	SUCCESS
CENPJ	55835	.	GRCh37	13	25467000	25467000	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	48	124	0	ENST00000381884.4:c.2997A>G	p.Leu999=	p.L999=	ENST00000381884	NM_018451.4	999	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9310.1	2997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTAAAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10331:SF19,hmmpanther:PTHR10331	.	.	ENSP00000371308	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000381884	Transcript	.	.	ENSG00000151849	17272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPJ_HUMAN	CENPJ	HGNC	B3KVU9_HUMAN	.	UPI000013DC8A	SNV	CENPJ,synonymous_variant,p.%3D,ENST00000418179,;CENPJ,synonymous_variant,p.%3D,ENST00000381884,;CENPJ,synonymous_variant,p.%3D,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000471870,;	3183	124	143	SUCCESS
MTMR6	9107	.	GRCh37	13	25826056	25826056	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	79	0	ENST00000381801.5:c.1413T>A	p.Pro471=	p.P471=	ENST00000381801	NM_004685.3	471	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9313.1	1413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGAGGATT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF34,hmmpanther:PTHR10807,Superfamily_domains:SSF52799	.	.	ENSP00000371221	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000381801	Transcript	.	.	ENSG00000139505	7453	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMR6_HUMAN	MTMR6	HGNC	Q8N5Q4_HUMAN	.	UPI00001FC8D0	SNV	MTMR6,synonymous_variant,p.%3D,ENST00000540661,;MTMR6,synonymous_variant,p.%3D,ENST00000381801,;	2175	79	97	SUCCESS
SLC25A29	123096	.	GRCh37	14	100758804	100758804	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1172983563	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	12	0	ENST00000359232.3:c.728G>A	p.Gly243Asp	p.G243D	ENST00000359232	NM_001039355.1	243	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32156.1	728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCCCTCG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF201,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000352167	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000359232	Transcript	.	.	ENSG00000197119	20116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MCATL_HUMAN	SLC25A29	HGNC	G3V5F4_HUMAN,A3KMR5_HUMAN	.	UPI0000141339	SNV	SLC25A29,missense_variant,p.Gly177Asp,ENST00000539621,;SLC25A29,missense_variant,p.Gly177Asp,ENST00000555927,;SLC25A29,missense_variant,p.Gly243Asp,ENST00000359232,;SLC25A29,missense_variant,p.Gly177Asp,ENST00000556505,;SLC25A29,missense_variant,p.Gly177Asp,ENST00000554912,;SLC25A29,3_prime_UTR_variant,,ENST00000392908,;SLC25A29,downstream_gene_variant,,ENST00000554060,;SLC25A29,downstream_gene_variant,,ENST00000554291,;RP11-638I2.6,intron_variant,,ENST00000556458,;RP11-638I2.6,downstream_gene_variant,,ENST00000555428,;AL157871.2,upstream_gene_variant,,ENST00000553954,;SLC25A29,downstream_gene_variant,,ENST00000555475,;SLC25A29,downstream_gene_variant,,ENST00000556873,;SLC25A29,downstream_gene_variant,,ENST00000553574,;SLC25A29,downstream_gene_variant,,ENST00000553359,;SLC25A29,3_prime_UTR_variant,,ENST00000554224,;SLC25A29,downstream_gene_variant,,ENST00000555051,;SLC25A29,downstream_gene_variant,,ENST00000556868,;SLC25A29,downstream_gene_variant,,ENST00000556715,;	1029	12	25	SUCCESS
MARK3	4140	.	GRCh37	14	103852295	103852295	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	48	0	ENST00000429436.2:c.-72T>A		p.*24*	ENST00000429436	NM_001128918.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCTGGTCG	NONE	.	.	.	.	.	ENSP00000411397	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000429436	Transcript	.	.	ENSG00000075413	6897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARK3_HUMAN	MARK3	HGNC	Q86U11_HUMAN	.	UPI00004567CC	SNV	MARK3,5_prime_UTR_variant,,ENST00000416682,;MARK3,5_prime_UTR_variant,,ENST00000440884,;MARK3,5_prime_UTR_variant,,ENST00000429436,;MARK3,5_prime_UTR_variant,,ENST00000216288,;MARK3,5_prime_UTR_variant,,ENST00000303622,;MARK3,upstream_gene_variant,,ENST00000560417,;MARK3,upstream_gene_variant,,ENST00000335102,;MARK3,upstream_gene_variant,,ENST00000553942,;MARK3,upstream_gene_variant,,ENST00000561225,;MARK3,intron_variant,,ENST00000559328,;MARK3,intron_variant,,ENST00000560603,;MARK3,upstream_gene_variant,,ENST00000558223,;	439	48	64	SUCCESS
MYH7	4625	.	GRCh37	14	23897069	23897069	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	7	84	1	ENST00000355349.3:c.1613G>A	p.Cys538Tyr	p.C538Y	ENST00000355349	NM_000257.2	538	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS9601.1	1613	MUTECT|VARSCANS	.	ACATGCACTCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000347507	.	16/40	.	.	.	.	.	.	.	.	.	16/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Cys538Tyr,ENST00000355349,;	1776	85	86	SUCCESS
PCK2	5106	.	GRCh37	14	24567763	24567763	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	77	0	ENST00000216780.4:c.540C>T	p.Asp180=	p.D180=	ENST00000216780	NM_004563.2	180	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS9609.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACTCAGC	NONE	.	.	Superfamily_domains:SSF68923,PIRSF_domain:PIRSF001348,Gene3D:3.40.449.10,Pfam_domain:PF00821,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452	.	.	ENSP00000216780	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,synonymous_variant,p.%3D,ENST00000216780,;PCK2,synonymous_variant,p.%3D,ENST00000561286,;PCK2,synonymous_variant,p.%3D,ENST00000559250,;PCK2,synonymous_variant,p.%3D,ENST00000396973,;PCK2,synonymous_variant,p.%3D,ENST00000545054,;PCK2,synonymous_variant,p.%3D,ENST00000558096,;PCK2,synonymous_variant,p.%3D,ENST00000559837,;PCK2,synonymous_variant,p.%3D,ENST00000560736,;NRL,intron_variant,,ENST00000558280,;NRL,intron_variant,,ENST00000561028,;NRL,upstream_gene_variant,,ENST00000396997,;PCK2,upstream_gene_variant,,ENST00000559171,;PCK2,downstream_gene_variant,,ENST00000560657,;PCK2,synonymous_variant,p.%3D,ENST00000559503,;PCK2,3_prime_UTR_variant,,ENST00000560106,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,downstream_gene_variant,,ENST00000559584,;PCK2,upstream_gene_variant,,ENST00000557969,;	808	77	94	SUCCESS
PAK6	56924	.	GRCh37	15	40564637	40564637	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	56	0	ENST00000260404.4:c.1071C>T	p.Ala357=	p.A357=	ENST00000260404	NM_020168.5	357	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10054.1	1071	MUTECT|MUSE	.	CACGCCCAGAT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF182	.	.	ENSP00000453858	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000560346	Transcript	.	.	ENSG00000137843	16061	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAK6_HUMAN	PAK6	HGNC	H0YMS4_HUMAN,H0YM99_HUMAN,H0YLZ9_HUMAN,H0YL16_HUMAN,H0YK91_HUMAN,H0YK74_HUMAN	.	UPI0000001C3B	SNV	PAK6,synonymous_variant,p.%3D,ENST00000260404,;PAK6,synonymous_variant,p.%3D,ENST00000560346,;PAK6,synonymous_variant,p.%3D,ENST00000453867,;PAK6,synonymous_variant,p.%3D,ENST00000542403,;PAK6,synonymous_variant,p.%3D,ENST00000441369,;PAK6,synonymous_variant,p.%3D,ENST00000455577,;PAK6,downstream_gene_variant,,ENST00000557926,;RP11-133K1.2,3_prime_UTR_variant,,ENST00000558658,;RP11-133K1.2,non_coding_transcript_exon_variant,,ENST00000559936,;RP11-133K1.2,non_coding_transcript_exon_variant,,ENST00000558965,;PAK6,upstream_gene_variant,,ENST00000557808,;	1654	56	57	SUCCESS
CASC4	0	.	GRCh37	15	44671957	44671957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	38	93	1	ENST00000299957.6:c.872G>T	p.Gly291Val	p.G291V	ENST00000299957	NM_138423.3	291	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10108.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGACAAC	NONE	.	.	hmmpanther:PTHR15896:SF7,hmmpanther:PTHR15896	.	.	ENSP00000299957	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000299957	Transcript	.	.	ENSG00000166734	24892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	tolerated(0.29)	.	CASC4_HUMAN	CASC4	HGNC	H0YMR0_HUMAN,H0YKJ7_HUMAN	.	UPI0000140255	SNV	CASC4,missense_variant,p.Gly291Val,ENST00000299957,;CASC4,missense_variant,p.Gly72Val,ENST00000558847,;CASC4,missense_variant,p.Gly291Val,ENST00000345795,;CASC4,3_prime_UTR_variant,,ENST00000360824,;CASC4,upstream_gene_variant,,ENST00000559550,;	1171	94	106	SUCCESS
SLCO3A1	28232	.	GRCh37	15	92459624	92459624	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	61	0	ENST00000318445.6:c.582G>T	p.Val194=	p.V194=	ENST00000318445	NM_013272.3	194	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10371.1	582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGCAGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000320634	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000318445	Transcript	.	.	ENSG00000176463	10952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO3A1_HUMAN	SLCO3A1	HGNC	.	.	UPI00001AF1F7	SNV	SLCO3A1,synonymous_variant,p.%3D,ENST00000318445,;SLCO3A1,synonymous_variant,p.%3D,ENST00000424469,;SLCO3A1,downstream_gene_variant,,ENST00000553304,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	796	61	65	SUCCESS
IGF1R	3480	.	GRCh37	15	99459327	99459327	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143193096	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	47	165	0	ENST00000268035.6:c.1963G>A	p.Gly655Ser	p.G655S	ENST00000268035	NM_000875.3	655	Ggc/Agc	0	A:0	C:0.0008	.	C:0	.	A	G/S	protein_coding	YES	CCDS10378.1	1963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	AGGACGGCTAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	C:0	A:0.0001	ENSP00000268035	C:0	9/21	.	.	.	.	.	.	.	.	rs143193096	9/21	PASS	ENST00000268035	Transcript	1	C:0.0002	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	C:0	tolerated(1)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Gly655Ser,ENST00000558762,;IGF1R,missense_variant,p.Gly655Ser,ENST00000268035,;IGF1R,downstream_gene_variant,,ENST00000558898,;IGF1R,downstream_gene_variant,,ENST00000559582,;IGF1R,missense_variant,p.Arg65Gln,ENST00000560144,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000561049,;	2574	165	156	SUCCESS
TNRC6A	27327	.	GRCh37	16	24816121	24816121	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	51	152	0	ENST00000395799.3:c.3933C>A	p.Ala1311=	p.A1311=	ENST00000395799	NM_014494.2	1311	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10624.2	3933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCCTTGG	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,synonymous_variant,p.%3D,ENST00000395799,;TNRC6A,synonymous_variant,p.%3D,ENST00000568750,;TNRC6A,intron_variant,,ENST00000315183,;TNRC6A,intron_variant,,ENST00000450465,;TNRC6A,upstream_gene_variant,,ENST00000432286,;CTD-2515A14.1,intron_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000462400,;TNRC6A,intron_variant,,ENST00000477487,;TNRC6A,downstream_gene_variant,,ENST00000561726,;TNRC6A,upstream_gene_variant,,ENST00000569376,;TNRC6A,upstream_gene_variant,,ENST00000563201,;	4062	152	176	SUCCESS
CDH11	1009	.	GRCh37	16	64984770	64984770	+	synonymous_variant	Silent	SNP	G	G	A	rs563299959	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	67	0	ENST00000268603.4:c.1794C>T	p.Asn598=	p.N598=	ENST00000268603	NM_001797.2	598	aaC/aaT	0	.	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS10803.1	1794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGTTCAC	SITE|p.N598N|c.1794C>T|3	by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112	A:0	.	ENSP00000268603	A:0	12/13	.	.	.	.	.	.	.	.	rs563299959,COSM972131,COSM3741969,COSM1651289,COSM3741970	12/13	PASS	ENST00000268603	Transcript	.	A:0.0002	ENSG00000140937	1750	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	A:0	.	0,1,1,1,1	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,synonymous_variant,p.%3D,ENST00000268603,;CDH11,synonymous_variant,p.%3D,ENST00000566827,;	2410	67	60	SUCCESS
WWP2	11060	.	GRCh37	16	69973254	69973254	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	87	0	ENST00000359154.2:c.2451A>G	p.Gly817=	p.G817=	ENST00000359154	NM_001270454.1	817	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS10885.1	2451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGGACCACA	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF287,Pfam_domain:PF00632,SMART_domains:SM00119,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000352069	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000359154	Transcript	.	.	ENSG00000198373	16804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WWP2_HUMAN	WWP2	HGNC	H3BRX8_HUMAN,H3BPJ8_HUMAN,B4DHF6_HUMAN	.	UPI000006CD16	SNV	WWP2,synonymous_variant,p.%3D,ENST00000356003,;WWP2,synonymous_variant,p.%3D,ENST00000448661,;WWP2,synonymous_variant,p.%3D,ENST00000542271,;WWP2,synonymous_variant,p.%3D,ENST00000359154,;WWP2,synonymous_variant,p.%3D,ENST00000568684,;WWP2,non_coding_transcript_exon_variant,,ENST00000544162,;WWP2,non_coding_transcript_exon_variant,,ENST00000569297,;WWP2,non_coding_transcript_exon_variant,,ENST00000567303,;WWP2,non_coding_transcript_exon_variant,,ENST00000566463,;WWP2,downstream_gene_variant,,ENST00000567161,;	2552	87	74	SUCCESS
VAT1L	57687	.	GRCh37	16	77859321	77859321	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	134	0	ENST00000302536.2:c.542G>A	p.Gly181Glu	p.G181E	ENST00000302536	NM_020927.1	181	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS32492.1	542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGGATGT	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF442,PROSITE_patterns:PS01162,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129,Superfamily_domains:SSF51735	.	.	ENSP00000303129	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000302536	Transcript	.	.	ENSG00000171724	29315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	VAT1L_HUMAN	VAT1L	HGNC	Q8NDE0_HUMAN	.	UPI00000741CE	SNV	VAT1L,missense_variant,p.Gly181Glu,ENST00000302536,;	695	134	100	SUCCESS
KLHDC4	54758	.	GRCh37	16	87788816	87788816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	53	165	0	ENST00000270583.5:c.353G>T	p.Arg118Met	p.R118M	ENST00000270583	NM_017566.3	118	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS10963.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCCTCGGA	NONE	.	.	hmmpanther:PTHR23244:SF283,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13415,Superfamily_domains:0052715,Superfamily_domains:0052715	.	.	ENSP00000270583	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000270583	Transcript	.	.	ENSG00000104731	25272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.02)	.	KLDC4_HUMAN	KLHDC4	HGNC	.	.	UPI00000705D4	SNV	KLHDC4,missense_variant,p.Arg61Met,ENST00000353170,;KLHDC4,missense_variant,p.Arg165Met,ENST00000561825,;KLHDC4,missense_variant,p.Arg118Met,ENST00000270583,;KLHDC4,missense_variant,p.Arg118Met,ENST00000347925,;KLHDC4,intron_variant,,ENST00000562261,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000565328,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000564484,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000568502,;KLHDC4,upstream_gene_variant,,ENST00000316853,;KLHDC4,missense_variant,p.Arg118Met,ENST00000567298,;KLHDC4,missense_variant,p.Gly92Cys,ENST00000562155,;KLHDC4,missense_variant,p.Gly98Cys,ENST00000569747,;KLHDC4,3_prime_UTR_variant,,ENST00000568338,;KLHDC4,3_prime_UTR_variant,,ENST00000564396,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000566661,;	412	165	149	SUCCESS
ZNF18	7566	.	GRCh37	17	11881942	11881942	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs765856443	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	70	0	ENST00000322748.3:c.982T>G	p.Phe328Val	p.F328V	ENST00000322748	NM_144680.2	328	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS32568.1	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAGCCCC	NONE	.	.	hmmpanther:PTHR10032:SF11,hmmpanther:PTHR10032	.	.	ENSP00000315664	.	9/9	.	.	.	.	.	.	.	.	rs765856443,COSM1380914	9/9	PASS	ENST00000322748	Transcript	.	.	ENSG00000154957	12969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.049)	.	tolerated(0.09)	0,1	ZNF18_HUMAN	ZNF18	HGNC	J3KSC1_HUMAN	.	UPI00000703B9	SNV	ZNF18,missense_variant,p.Phe327Val,ENST00000454073,;ZNF18,missense_variant,p.Phe328Val,ENST00000322748,;ZNF18,missense_variant,p.Phe112Val,ENST00000577671,;ZNF18,missense_variant,p.Phe149Val,ENST00000582607,;ZNF18,missense_variant,p.Phe328Val,ENST00000580306,;ZNF18,intron_variant,,ENST00000580613,;RP11-1096G20.5,upstream_gene_variant,,ENST00000580270,;	1587	70	74	SUCCESS
MYO15A	51168	.	GRCh37	17	18025025	18025025	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	134	0	ENST00000205890.5:c.2911G>T	p.Val971Leu	p.V971L	ENST00000205890	NM_016239.3	971	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS42271.1	2911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGTGCCA	NONE	.	.	.	.	.	ENSP00000205890	.	2/66	.	.	.	.	.	.	.	.	.	2/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,missense_variant,p.Val971Leu,ENST00000205890,;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;	3249	134	126	SUCCESS
SLFN11	91607	.	GRCh37	17	33679758	33679758	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	113	0	ENST00000308377.4:c.2323G>T	p.Gly775Ter	p.G775*	ENST00000308377	NM_152270.3	775	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS11294.1	2323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCCTGAA	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,stop_gained,p.Gly775Ter,ENST00000394566,;SLFN11,stop_gained,p.Gly775Ter,ENST00000308377,;SLFN11,3_prime_UTR_variant,,ENST00000592108,;	2596	113	102	SUCCESS
CCL3	6348	.	GRCh37	17	34416065	34416065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	297	114	445	0	ENST00000225245.5:c.232G>A	p.Glu78Lys	p.E78K	ENST00000225245	NM_002983.2	78	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS11307.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCACTGG	NONE	.	.	hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF90,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117	.	.	ENSP00000225245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000225245	Transcript	.	.	ENSG00000006075	10627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.03)	.	CCL3_HUMAN	CCL3	HGNC	A0N0R1_HUMAN	.	UPI00001362C9	SNV	CCL3,missense_variant,p.Glu78Lys,ENST00000225245,;AC069363.1,intron_variant,,ENST00000592728,;AC069363.1,intron_variant,,ENST00000441575,;AC069363.1,intron_variant,,ENST00000590992,;CCL3,non_coding_transcript_exon_variant,,ENST00000470334,;CCL3,intron_variant,,ENST00000585830,;	315	445	411	SUCCESS
FMNL1	752	.	GRCh37	17	43319449	43319449	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	20	0	ENST00000331495.3:c.1821G>A	p.Pro607=	p.P607=	ENST00000331495	NM_005892.3	607	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11497.1	1821	MUTECT|MUSE	.	CCGCCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Superfamily_domains:SSF101447	.	.	ENSP00000329219	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000331495	Transcript	.	.	ENSG00000184922	1212	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FMNL_HUMAN	FMNL1	HGNC	.	.	UPI0000246EE9	SNV	FMNL1,synonymous_variant,p.%3D,ENST00000587489,;FMNL1,synonymous_variant,p.%3D,ENST00000331495,;FMNL1,synonymous_variant,p.%3D,ENST00000328118,;FMNL1,upstream_gene_variant,,ENST00000586092,;FMNL1,upstream_gene_variant,,ENST00000589911,;FMNL1,upstream_gene_variant,,ENST00000586643,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;CTD-2020K17.4,downstream_gene_variant,,ENST00000420431,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;FMNL1,downstream_gene_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	2157	20	23	SUCCESS
MYBBP1A	10514	.	GRCh37	17	4443170	4443170	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770111116	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	33	0	ENST00000254718.4:c.3527C>A	p.Pro1176Gln	p.P1176Q	ENST00000254718		1176	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS42238.1	3527	MUTECT|MUSE	.	TCTCTGGCAAG	NONE	.	.	hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213	.	.	ENSP00000370968	.	26/27	.	.	.	.	.	.	.	.	rs770111116	26/27	PASS	ENST00000381556	Transcript	.	.	ENSG00000132382	7546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MBB1A_HUMAN	MYBBP1A	HGNC	.	.	UPI0000551C8B	SNV	MYBBP1A,missense_variant,p.Pro1176Gln,ENST00000381556,;MYBBP1A,missense_variant,p.Pro1096Gln,ENST00000573116,;MYBBP1A,missense_variant,p.Pro1176Gln,ENST00000254718,;MYBBP1A,3_prime_UTR_variant,,ENST00000572759,;MYBBP1A,intron_variant,,ENST00000573723,;SPNS2,downstream_gene_variant,,ENST00000329078,;SPNS2,downstream_gene_variant,,ENST00000571386,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574167,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574547,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000571368,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574934,;SPNS2,downstream_gene_variant,,ENST00000570979,;SPNS2,downstream_gene_variant,,ENST00000573106,;MYBBP1A,downstream_gene_variant,,ENST00000575662,;SPNS2,downstream_gene_variant,,ENST00000570641,;SPNS2,downstream_gene_variant,,ENST00000571668,;SPNS2,downstream_gene_variant,,ENST00000573990,;SPNS2,downstream_gene_variant,,ENST00000576635,;	3589	33	38	SUCCESS
GNGT2	2793	.	GRCh37	17	47284155	47284155	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	55	152	0	ENST00000300406.2:c.174T>C	p.Asn58=	p.N58=	ENST00000300406	NM_001198755.1	58	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS11545.1	174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGATTCTT	NONE	.	.	PROSITE_profiles:PS50058,hmmpanther:PTHR13809:SF22,hmmpanther:PTHR13809,Gene3D:4.10.260.10,Pfam_domain:PF00631,SMART_domains:SM00224,Superfamily_domains:SSF48670,Prints_domain:PR00321	.	.	ENSP00000426022	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000511277	Transcript	.	.	ENSG00000167083	4412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBGT2_HUMAN	GNGT2	HGNC	.	.	UPI000012B236	SNV	GNGT2,synonymous_variant,p.%3D,ENST00000511673,;GNGT2,synonymous_variant,p.%3D,ENST00000300406,;GNGT2,synonymous_variant,p.%3D,ENST00000511277,;GNGT2,synonymous_variant,p.%3D,ENST00000507680,;GNGT2,synonymous_variant,p.%3D,ENST00000515635,;GNGT2,synonymous_variant,p.%3D,ENST00000503070,;ABI3,upstream_gene_variant,,ENST00000419580,;ABI3,upstream_gene_variant,,ENST00000225941,;	354	152	153	SUCCESS
COG1	9382	.	GRCh37	17	71199899	71199899	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	56	148	0	ENST00000299886.4:c.2349C>T	p.Ala783=	p.A783=	ENST00000299886	NM_018714.2	783	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11692.1	2349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCTATGA	NONE	.	.	hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0	.	.	ENSP00000299886	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000299886	Transcript	.	.	ENSG00000166685	6545	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COG1_HUMAN	COG1	HGNC	J3KSY3_HUMAN	.	UPI0000127E34	SNV	COG1,synonymous_variant,p.%3D,ENST00000438720,;COG1,synonymous_variant,p.%3D,ENST00000299886,;FAM104A,downstream_gene_variant,,ENST00000403627,;COG1,upstream_gene_variant,,ENST00000582512,;FAM104A,downstream_gene_variant,,ENST00000405159,;COG1,upstream_gene_variant,,ENST00000582672,;COG1,upstream_gene_variant,,ENST00000577844,;COG1,upstream_gene_variant,,ENST00000577238,;COG1,upstream_gene_variant,,ENST00000582973,;COG1,upstream_gene_variant,,ENST00000580271,;	2429	148	166	SUCCESS
C17orf99	100141515	.	GRCh37	17	76160409	76160409	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	51	198	0	ENST00000340363.5:c.604A>G	p.Asn202Asp	p.N202D	ENST00000340363	NM_001163075.1	202	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS54171.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCAATGTC	NONE	.	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF53	.	.	ENSP00000343493	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000340363	Transcript	.	.	ENSG00000187997	34490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.21)	.	CQ099_HUMAN	C17orf99	HGNC	.	.	UPI000049DE67	SNV	C17orf99,missense_variant,p.Asn202Asp,ENST00000340363,;SYNGR2,upstream_gene_variant,,ENST00000589711,;SYNGR2,upstream_gene_variant,,ENST00000225777,;C17orf99,downstream_gene_variant,,ENST00000586999,;C17orf99,downstream_gene_variant,,ENST00000591995,;SYNGR2,upstream_gene_variant,,ENST00000589168,;SYNGR2,upstream_gene_variant,,ENST00000585591,;SYNGR2,upstream_gene_variant,,ENST00000588282,;SYNGR2,upstream_gene_variant,,ENST00000590201,;C17orf99,non_coding_transcript_exon_variant,,ENST00000586029,;C17orf99,non_coding_transcript_exon_variant,,ENST00000451352,;C17orf99,upstream_gene_variant,,ENST00000586246,;SYNGR2,upstream_gene_variant,,ENST00000589183,;SYNGR2,upstream_gene_variant,,ENST00000591770,;	659	198	164	SUCCESS
OR10H1	26539	.	GRCh37	19	15918464	15918464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	113	0	ENST00000334920.2:c.384C>A	p.His128Gln	p.H128Q	ENST00000334920	NM_013940.2	128	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS12335.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGTGGCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335596	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334920	Transcript	.	.	ENSG00000186723	8172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.15)	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,missense_variant,p.His128Gln,ENST00000334920,;	473	113	132	SUCCESS
MAP1S	55201	.	GRCh37	19	17835870	17835870	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	48	163	0	ENST00000324096.4:c.316C>G	p.Leu106Val	p.L106V	ENST00000324096	NM_018174.4	106	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS32954.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCTGTTG	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.39)	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,missense_variant,p.Leu106Val,ENST00000597735,;MAP1S,missense_variant,p.Leu106Val,ENST00000594625,;MAP1S,missense_variant,p.Leu72Val,ENST00000600186,;MAP1S,missense_variant,p.Leu80Val,ENST00000544059,;MAP1S,missense_variant,p.Leu106Val,ENST00000324096,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000594340,;MAP1S,non_coding_transcript_exon_variant,,ENST00000599494,;MAP1S,non_coding_transcript_exon_variant,,ENST00000601544,;MAP1S,non_coding_transcript_exon_variant,,ENST00000595338,;MAP1S,non_coding_transcript_exon_variant,,ENST00000597067,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598916,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,3_prime_UTR_variant,,ENST00000594212,;MAP1S,3_prime_UTR_variant,,ENST00000593593,;MAP1S,3_prime_UTR_variant,,ENST00000594365,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000600608,;	467	163	144	SUCCESS
ANKRD27	84079	.	GRCh37	19	33110252	33110252	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	52	0	ENST00000306065.4:c.1921T>C	p.Ser641Pro	p.S641P	ENST00000306065	NM_032139.2	641	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS32986.1	1921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGAGTCCA	NONE	.	.	hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1,PROSITE_profiles:PS50297,Low_complexity_(Seg):seg	.	.	ENSP00000304292	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000306065	Transcript	.	.	ENSG00000105186	25310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	tolerated(0.15)	.	ANR27_HUMAN	ANKRD27	HGNC	K7EPM2_HUMAN,K7EIN0_HUMAN,K7EIH4_HUMAN	.	UPI000004FDE9	SNV	ANKRD27,missense_variant,p.Ser641Pro,ENST00000306065,;	2080	52	54	SUCCESS
WDR87	83889	.	GRCh37	19	38380424	38380424	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	103	0	ENST00000303868.5:c.3770C>A	p.Ser1257Tyr	p.S1257Y	ENST00000303868	NM_031951.3	1257	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS46063.1	3770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGAACCA	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Ser1296Tyr,ENST00000447313,;WDR87,missense_variant,p.Ser1257Tyr,ENST00000303868,;	3995	103	109	SUCCESS
LYPD4	147719	.	GRCh37	19	42343252	42343252	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	62	0	ENST00000330743.3:c.67+41T>A		p.*23*	ENST00000330743	NM_173506.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12587.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCACCTTT	NONE	.	.	.	.	.	ENSP00000328737	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330743	Transcript	.	.	ENSG00000183103	28659	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYPD4_HUMAN	LYPD4	HGNC	A8K8E0_HUMAN	.	UPI0000366E14	SNV	LYPD4,splice_donor_variant,,ENST00000343055,;LYPD4,splice_donor_variant,,ENST00000601246,;LYPD4,intron_variant,,ENST00000330743,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	.	62	52	SUCCESS
FIZ1	84922	.	GRCh37	19	56104771	56104771	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777883921	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	15	0	ENST00000221665.3:c.536C>T	p.Ala179Val	p.A179V	ENST00000221665	NM_032836.2	179	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS12928.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGCGCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF11	.	.	ENSP00000221665	.	3/3	.	.	.	.	.	.	.	.	rs777883921	3/3	PASS	ENST00000221665	Transcript	.	.	ENSG00000179943	25917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.52)	.	FIZ1_HUMAN	FIZ1	HGNC	K7EQX6_HUMAN,K7EJE2_HUMAN	.	UPI000013C7D7	SNV	FIZ1,missense_variant,p.Ala179Val,ENST00000221665,;FIZ1,missense_variant,p.Ala179Val,ENST00000590714,;FIZ1,downstream_gene_variant,,ENST00000592585,;FIZ1,downstream_gene_variant,,ENST00000587678,;FIZ1,downstream_gene_variant,,ENST00000587414,;	626	15	14	SUCCESS
ZNF552	79818	.	GRCh37	19	58319697	58319697	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753669522	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	89	0	ENST00000391701.1:c.935T>C	p.Ile312Thr	p.I312T	ENST00000391701	NM_024762.3	312	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS12963.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAATGAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF209,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000375582	.	3/3	.	.	.	.	.	.	.	.	rs753669522	3/3	PASS	ENST00000391701	Transcript	.	.	ENSG00000178935	26135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.11)	.	ZN552_HUMAN	ZNF552	HGNC	.	.	UPI0000202D72	SNV	ZNF552,missense_variant,p.Ile312Thr,ENST00000391701,;ZNF552,intron_variant,,ENST00000594473,;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;ZNF552,3_prime_UTR_variant,,ENST00000596248,;ZNF552,downstream_gene_variant,,ENST00000600397,;	1105	89	89	SUCCESS
GPR61	83873	.	GRCh37	1	110086824	110086824	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	59	0	ENST00000404129.2:c.1180T>C	p.Ser394Pro	p.S394P	ENST00000404129		394	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS801.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTCCTGG	NONE	.	.	hmmpanther:PTHR22752:SF5,hmmpanther:PTHR22752	.	.	ENSP00000432456	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000527748	Transcript	.	.	ENSG00000156097	13300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	GPR61_HUMAN	GPR61	HGNC	Q59GL3_HUMAN,G4XH66_HUMAN	.	UPI000003BCCB	SNV	GPR61,missense_variant,p.Ser394Pro,ENST00000527748,;GNAI3,upstream_gene_variant,,ENST00000369851,;RP5-1160K1.8,upstream_gene_variant,,ENST00000526411,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,missense_variant,p.Ser394Pro,ENST00000404129,;GPR61,missense_variant,p.Ser394Pro,ENST00000469383,;	1863	59	87	SUCCESS
PRAMEF6	440561	.	GRCh37	1	13001335	13001335	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs780227408	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	57	0	ENST00000376189.1:c.348G>A	p.Trp116Ter	p.W116*	ENST00000376189	NM_001010889.2	116	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS30594.1	348	MUTECT|MUSE	.	TCAGACCAAAC	NONE	byFrequency	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,PIRSF_domain:PIRSF038286	.	.	ENSP00000365360	.	3/4	.	.	.	.	.	.	.	.	rs780227408	3/4	PASS	ENST00000376189	Transcript	.	.	ENSG00000232423	30583	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRAM6_HUMAN	PRAMEF6	HGNC	.	.	UPI0000418E57	SNV	PRAMEF6,stop_gained,p.Trp116Ter,ENST00000415464,;PRAMEF6,stop_gained,p.Trp116Ter,ENST00000355096,;PRAMEF6,stop_gained,p.Trp116Ter,ENST00000376189,;PRAMEF6,intron_variant,,ENST00000376192,;	448	57	60	SUCCESS
LAMC2	3918	.	GRCh37	1	183184629	183184629	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	88	0	ENST00000264144.4:c.310T>A	p.Cys104Ser	p.C104S	ENST00000264144	NM_005562.2	104	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS1352.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTGTAAA	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196,Prints_domain:PR00011	.	.	ENSP00000264144	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,missense_variant,p.Cys104Ser,ENST00000264144,;LAMC2,missense_variant,p.Cys104Ser,ENST00000493293,;	375	88	58	SUCCESS
FAM129A	0	.	GRCh37	1	184787922	184787922	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747958678	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	99	0	ENST00000367511.3:c.1023G>T	p.Glu341Asp	p.E341D	ENST00000367511	NM_052966.3	341	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS1364.1	1023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTCTCCAA	NONE	byFrequency	.	hmmpanther:PTHR14392:SF3,hmmpanther:PTHR14392	.	.	ENSP00000356481	.	9/14	.	.	.	.	.	.	.	.	rs747958678	9/14	PASS	ENST00000367511	Transcript	.	.	ENSG00000135842	16784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	tolerated(0.06)	.	NIBAN_HUMAN	FAM129A	HGNC	.	.	UPI00000375B3	SNV	FAM129A,missense_variant,p.Glu341Asp,ENST00000367511,;RNU7-13P,downstream_gene_variant,,ENST00000516413,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;FAM129A,downstream_gene_variant,,ENST00000461167,;	1217	99	64	SUCCESS
NEK2	4751	.	GRCh37	1	211840446	211840446	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	64	203	0	ENST00000366999.4:c.1111+2T>A		p.X371_splice	ENST00000366999	NM_002497.3	371		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1500.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATACCTGG	NONE	.	.	.	.	.	ENSP00000355966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366999	Transcript	.	.	ENSG00000117650	7745	.	.	HIGH	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK2_HUMAN	NEK2	HGNC	B4DZU0_HUMAN	.	UPI000012FF27	SNV	NEK2,splice_donor_variant,,ENST00000366999,;NEK2,splice_donor_variant,,ENST00000540251,;NEK2,synonymous_variant,p.%3D,ENST00000366998,;NEK2,splice_donor_variant,,ENST00000489633,;NEK2,splice_donor_variant,,ENST00000462283,;	.	203	228	SUCCESS
CELA3B	23436	.	GRCh37	1	22310306	22310306	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201377315	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	124	388	0	ENST00000337107.6:c.482G>T	p.Gly161Val	p.G161V	ENST00000337107	NM_007352.2	161	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS219.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGGCTGGG	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11,PROSITE_profiles:PS50240	.	.	ENSP00000338369	.	5/8	.	.	.	.	.	.	.	.	rs201377315	5/8	PASS	ENST00000337107	Transcript	.	.	ENSG00000219073	15945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CEL3B_HUMAN	CELA3B	HGNC	.	.	UPI0000156D2F	SNV	CELA3B,missense_variant,p.Gly161Val,ENST00000337107,;CELA3B,missense_variant,p.Gly64Val,ENST00000400277,;CELA3B,downstream_gene_variant,,ENST00000374666,;RNU6-1022P,upstream_gene_variant,,ENST00000365049,;RN7SL386P,upstream_gene_variant,,ENST00000485776,;RN7SL421P,upstream_gene_variant,,ENST00000582599,;CELA3B,upstream_gene_variant,,ENST00000473526,;	501	388	385	SUCCESS
DESI2	51029	.	GRCh37	1	244849969	244849969	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	71	0	ENST00000302550.11:c.113G>A	p.Arg38Lys	p.R38K	ENST00000302550	NM_016076.3	38	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS1626.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGAGGTA	NONE	.	.	hmmpanther:PTHR12378,hmmpanther:PTHR12378:SF6,Pfam_domain:PF05903	.	.	ENSP00000306528	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000302550	Transcript	.	.	ENSG00000121644	24264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	tolerated(1)	.	DESI2_HUMAN	DESI2	HGNC	.	.	UPI0000038D6C	SNV	DESI2,missense_variant,p.Arg38Lys,ENST00000263831,;DESI2,missense_variant,p.Arg38Lys,ENST00000302550,;DESI2,missense_variant,p.Arg55Lys,ENST00000418162,;	492	71	96	SUCCESS
OR2L8	391190	.	GRCh37	1	248112914	248112914	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749883227	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	42	183	0	ENST00000357191.3:c.755C>T	p.Ala252Val	p.A252V	ENST00000357191	NM_001001963.1	252	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31101.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGCACCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000349719	.	1/1	.	.	.	.	.	.	.	.	rs749883227,COSM1502350	1/1	PASS	ENST00000357191	Transcript	.	.	ENSG00000196936	15014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.081)	.	tolerated(0.3)	0,1	OR2L8_HUMAN	OR2L8	HGNC	.	.	UPI0000061E5D	SNV	OR2L8,missense_variant,p.Ala252Val,ENST00000357191,;OR2L13,intron_variant,,ENST00000366478,;	755	183	158	SUCCESS
PUM1	9698	.	GRCh37	1	31468064	31468064	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	67	177	0	ENST00000257075.5:c.724C>T	p.Pro242Ser	p.P242S	ENST00000257075	NM_014676.2	242	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS44099.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGGCCCT	NONE	.	.	hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1	.	.	ENSP00000391723	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000426105	Transcript	.	.	ENSG00000134644	14957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.13)	.	PUM1_HUMAN	PUM1	HGNC	E9PL65_HUMAN	.	UPI0000203D8E	SNV	PUM1,missense_variant,p.Pro242Ser,ENST00000426105,;PUM1,missense_variant,p.Pro146Ser,ENST00000423018,;PUM1,missense_variant,p.Pro242Ser,ENST00000257075,;PUM1,missense_variant,p.Pro259Ser,ENST00000525843,;PUM1,missense_variant,p.Pro242Ser,ENST00000373747,;PUM1,missense_variant,p.Pro182Ser,ENST00000373742,;PUM1,missense_variant,p.Pro242Ser,ENST00000440538,;PUM1,missense_variant,p.Pro278Ser,ENST00000373741,;PUM1,intron_variant,,ENST00000424085,;PUM1,upstream_gene_variant,,ENST00000532678,;PUM1,upstream_gene_variant,,ENST00000498419,;PUM1,3_prime_UTR_variant,,ENST00000525948,;PUM1,3_prime_UTR_variant,,ENST00000480602,;PUM1,intron_variant,,ENST00000526215,;	815	178	192	SUCCESS
ZMYM4	9202	.	GRCh37	1	35852656	35852656	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1008248421	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	72	0	ENST00000314607.6:c.1889A>G	p.Gln630Arg	p.Q630R	ENST00000314607	NM_005095.2	630	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS389.1	1889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCAGGGCC	NONE	.	.	hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.09)	.	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,missense_variant,p.Gln290Arg,ENST00000457946,;ZMYM4,missense_variant,p.Gln541Arg,ENST00000373297,;ZMYM4,missense_variant,p.Gln630Arg,ENST00000314607,;	1969	72	57	SUCCESS
LPPR4	0	.	GRCh37	1	99771859	99771859	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	25	82	0	ENST00000370185.3:c.1587del	p.Ser530ProfsTer15	p.S530Pfs*15	ENST00000370185	NM_014839.4	529	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS757.1	1585	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTCCTGGGTCC	NONE	.	.	.	.	.	ENSP00000359204	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370185	Transcript	.	.	ENSG00000117600	.	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPPR4_HUMAN	LPPR4	Uniprot_gn	.	.	UPI0000161229	deletion	LPPR4,frameshift_variant,p.Ser530ProfsTer15,ENST00000370185,;LPPR4,frameshift_variant,p.Ser472ProfsTer15,ENST00000457765,;LPPR4,frameshift_variant,p.Ser372ProfsTer15,ENST00000370184,;	2082	82	108	SUCCESS
SYCP2	10388	.	GRCh37	20	58449053	58449053	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755198324	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	33	149	0	ENST00000357552.3:c.3413C>T	p.Ser1138Leu	p.S1138L	ENST00000357552		1138	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS13482.1	3413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGATATA	NONE	byFrequency	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	35/45	.	.	.	.	.	.	.	.	rs755198324	35/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,missense_variant,p.Ser1138Leu,ENST00000357552,;SYCP2,missense_variant,p.Ser1138Leu,ENST00000371001,;SYCP2,downstream_gene_variant,,ENST00000446834,;	3639	149	119	SUCCESS
RBBP8NL	140893	.	GRCh37	20	60989559	60989559	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	65	0	ENST00000252998.1:c.848C>T	p.Ser283Phe	p.S283F	ENST00000252998	NM_080833.2	283	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS13498.1	848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGGAGAGC	NONE	.	.	hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1	.	.	ENSP00000252998	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000252998	Transcript	.	.	ENSG00000130701	16144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.01)	.	RB8NL_HUMAN	RBBP8NL	HGNC	.	.	UPI000013CDA2	SNV	RBBP8NL,missense_variant,p.Ser283Phe,ENST00000252998,;	1005	65	69	SUCCESS
TPTE	7179	.	GRCh37	21	10906953	10906954	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	331	50	322	0	ENST00000361285.4:c.1607_1608delinsA	p.Leu536HisfsTer6	p.L536Hfs*6	ENST00000361285	NM_199261.2	536	cTT/cA	0	.	.	.	.	.	T	L/X	protein_coding	YES	CCDS13560.2	1607-1608	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	GCCAAAAAGTATC	NONE	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Pfam_domain:PF10409,Gene3D:1d5rA02,Superfamily_domains:SSF49562	.	.	ENSP00000355208	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	substitution	TPTE,frameshift_variant,p.Leu536HisfsTer6,ENST00000361285,;TPTE,frameshift_variant,p.Leu498HisfsTer6,ENST00000342420,;TPTE,frameshift_variant,p.Leu518HisfsTer6,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	1937-1938	322	381	SUCCESS
BAGE2	85319	.	GRCh37	21	11049587	11049587	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs767627845	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	487	28	435	0	ENST00000470054.1:n.522C>T		p.*174*	ENST00000470054				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CCCGGGCTGTC	NONE	byFrequency	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	rs767627845	4/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	522	435	515	SUCCESS
USP16	10600	.	GRCh37	21	30411352	30411352	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	120	1	ENST00000334352.4:c.738A>G	p.Pro246=	p.P246=	ENST00000334352	NM_001032410.1	246	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS13583.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCATTAGA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF420,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000334808	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000334352	Transcript	.	.	ENSG00000156256	12614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP16_HUMAN	USP16	HGNC	H9KVB6_HUMAN	.	UPI00001379FA	SNV	USP16,synonymous_variant,p.%3D,ENST00000334352,;USP16,synonymous_variant,p.%3D,ENST00000399976,;USP16,synonymous_variant,p.%3D,ENST00000399975,;USP16,intron_variant,,ENST00000535828,;USP16,downstream_gene_variant,,ENST00000399973,;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;	969	121	104	SUCCESS
MGAT5	4249	.	GRCh37	2	135206375	135206375	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	123	0	ENST00000281923.2:c.2183A>T	p.Asp728Val	p.D728V	ENST00000281923	NM_002410.4	728	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2171.1	2183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGACTTCA	NONE	.	.	hmmpanther:PTHR15075:SF3,hmmpanther:PTHR15075	.	.	ENSP00000386377	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000409645	Transcript	.	.	ENSG00000152127	7049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	MGT5A_HUMAN	MGAT5	HGNC	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN	.	UPI0000049D8F	SNV	MGAT5,missense_variant,p.Asp728Val,ENST00000281923,;MGAT5,missense_variant,p.Asp728Val,ENST00000409645,;	2435	123	117	SUCCESS
COL3A1	1281	.	GRCh37	2	189856233	189856233	+	synonymous_variant	Silent	SNP	C	C	T	rs138569287	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	69	254	0	ENST00000304636.3:c.873C>T	p.Gly291=	p.G291=	ENST00000304636	NM_000090.3	291	ggC/ggT	0	T:0	.	.	.	.	T	G	protein_coding	YES	CCDS2297.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCGAAAA	NONE	byCluster	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	T:0.0001	ENSP00000304408	.	12/51	.	.	.	.	.	.	.	.	rs138569287,COSM402134	12/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,synonymous_variant,p.%3D,ENST00000317840,;COL3A1,synonymous_variant,p.%3D,ENST00000304636,;COL3A1,upstream_gene_variant,,ENST00000450867,;	1043	254	238	SUCCESS
SGOL2	0	.	GRCh37	2	201399894	201399894	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	68	345	0	ENST00000357799.4:c.309G>C	p.Leu103Phe	p.L103F	ENST00000357799	NM_152524.5	103	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS42796.1	309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGGTATG	NONE	.	.	hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000350447	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000357799	Transcript	.	.	ENSG00000163535	30812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SGOL2_HUMAN	SGOL2	HGNC	C9JW92_HUMAN	.	UPI00001AEBF5	SNV	SGOL2,missense_variant,p.Leu103Phe,ENST00000409203,;SGOL2,missense_variant,p.Leu103Phe,ENST00000357799,;SGOL2,downstream_gene_variant,,ENST00000418045,;SGOL2,splice_region_variant,,ENST00000469840,;SGOL2,downstream_gene_variant,,ENST00000460534,;SGOL2,splice_region_variant,,ENST00000488636,;	407	345	317	SUCCESS
PLCD4	84812	.	GRCh37	2	219499332	219499332	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	46	141	0	ENST00000417849.1:c.1875A>C	p.Lys625Asn	p.K625N	ENST00000417849		625	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS46516.1	1875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAAGCCCA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336:SF31,hmmpanther:PTHR10336	.	.	ENSP00000388631	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000450993	Transcript	.	.	ENSG00000115556	9062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.357)	.	tolerated(0.14)	.	PLCD4_HUMAN	PLCD4	HGNC	C9JAE4_HUMAN	.	UPI0000044279	SNV	PLCD4,missense_variant,p.Lys625Asn,ENST00000450993,;PLCD4,missense_variant,p.Lys625Asn,ENST00000417849,;PLCD4,missense_variant,p.Lys657Asn,ENST00000432688,;PLCD4,upstream_gene_variant,,ENST00000457773,;ZNF142,downstream_gene_variant,,ENST00000411696,;ZNF142,downstream_gene_variant,,ENST00000449707,;RP11-548H3.1,upstream_gene_variant,,ENST00000607946,;PLCD4,non_coding_transcript_exon_variant,,ENST00000484718,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;ZNF142,downstream_gene_variant,,ENST00000450765,;PLCD4,downstream_gene_variant,,ENST00000497482,;ZNF142,downstream_gene_variant,,ENST00000433921,;PLCD4,downstream_gene_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000458239,;	2214	141	138	SUCCESS
HDLBP	3069	.	GRCh37	2	242194526	242194526	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	71	0	ENST00000391975.1:c.1128C>G	p.His376Gln	p.H376Q	ENST00000391975	NM_203346.3	376	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS2547.1	1128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACGGTGAAG	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000375836	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000391975	Transcript	.	.	ENSG00000115677	4857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	VIGLN_HUMAN	HDLBP	HGNC	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN	.	UPI00001AEF85	SNV	HDLBP,missense_variant,p.His376Gln,ENST00000310931,;HDLBP,missense_variant,p.His343Gln,ENST00000427183,;HDLBP,missense_variant,p.His185Gln,ENST00000373292,;HDLBP,missense_variant,p.His376Gln,ENST00000391976,;HDLBP,missense_variant,p.His254Gln,ENST00000453141,;HDLBP,missense_variant,p.His376Gln,ENST00000391975,;HDLBP,downstream_gene_variant,,ENST00000452065,;HDLBP,downstream_gene_variant,,ENST00000422933,;HDLBP,downstream_gene_variant,,ENST00000428482,;HDLBP,downstream_gene_variant,,ENST00000442714,;HDLBP,non_coding_transcript_exon_variant,,ENST00000477477,;HDLBP,upstream_gene_variant,,ENST00000476807,;HDLBP,non_coding_transcript_exon_variant,,ENST00000498595,;HDLBP,non_coding_transcript_exon_variant,,ENST00000467435,;HDLBP,upstream_gene_variant,,ENST00000487169,;HDLBP,downstream_gene_variant,,ENST00000470710,;	1356	71	69	SUCCESS
THADA	63892	.	GRCh37	2	43801892	43801893	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AA	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	27	98	0	ENST00000405006.4:c.1310_1311dup	p.Val438LeufsTer4	p.V438Lfs*4	ENST00000405006	NM_001083953.1	437	-/TT	0	.	.	.	.	.	AA	-/X	protein_coding	YES	CCDS46268.1	1311-1312	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCACAAAGA	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387,Superfamily_domains:SSF48371	.	.	ENSP00000385995	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	insertion	THADA,frameshift_variant,p.Val438LeufsTer4,ENST00000404790,;THADA,frameshift_variant,p.Val148LeufsTer4,ENST00000330266,;THADA,frameshift_variant,p.Val438LeufsTer4,ENST00000402360,;THADA,frameshift_variant,p.Val148LeufsTer4,ENST00000415080,;THADA,frameshift_variant,p.Val438LeufsTer4,ENST00000403856,;THADA,frameshift_variant,p.Val438LeufsTer4,ENST00000405006,;THADA,frameshift_variant,p.Val438LeufsTer4,ENST00000405975,;THADA,upstream_gene_variant,,ENST00000407351,;THADA,frameshift_variant,p.Val21LeufsTer4,ENST00000402796,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,intron_variant,,ENST00000474159,;	1663-1664	98	108	SUCCESS
CPSF3	51692	.	GRCh37	2	9574031	9574031	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	234	98	320	0	ENST00000238112.3:c.551A>G	p.Glu184Gly	p.E184G	ENST00000238112	NM_016207.3	184	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1664.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGAAGATA	NONE	.	.	hmmpanther:PTHR11203:SF32,hmmpanther:PTHR11203,Pfam_domain:PF00753,Gene3D:3.60.15.10,SMART_domains:SM00849,Superfamily_domains:SSF56281	.	.	ENSP00000238112	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000238112	Transcript	.	.	ENSG00000119203	2326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	CPSF3_HUMAN	CPSF3	HGNC	G5E9W3_HUMAN,C9JZH6_HUMAN	.	UPI00001282F5	SNV	CPSF3,missense_variant,p.Glu184Gly,ENST00000238112,;CPSF3,missense_variant,p.Glu147Gly,ENST00000460593,;CPSF3,downstream_gene_variant,,ENST00000475482,;	757	320	333	SUCCESS
UMPS	7372	.	GRCh37	3	124449404	124449404	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs749083040	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	61	181	0	ENST00000232607.2:c.86A>C	p.Lys29Thr	p.K29T	ENST00000232607	NM_000373.3	29	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS3029.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAGAGCG	NONE	byFrequency	.	HAMAP:MF_01208,hmmpanther:PTHR19278,hmmpanther:PTHR19278:SF9,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR00336,Superfamily_domains:SSF53271	.	.	ENSP00000232607	.	1/6	.	.	.	.	.	.	.	.	rs749083040	1/6	PASS	ENST00000232607	Transcript	.	.	ENSG00000114491	12563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	UMPS_HUMAN	UMPS	HGNC	B5LY64_HUMAN,A8K5J1_HUMAN	.	UPI0000001223	SNV	UMPS,missense_variant,p.Lys29Thr,ENST00000232607,;UMPS,5_prime_UTR_variant,,ENST00000536109,;UMPS,5_prime_UTR_variant,,ENST00000538242,;UMPS,5_prime_UTR_variant,,ENST00000413078,;KALRN,downstream_gene_variant,,ENST00000291478,;MIR544B,upstream_gene_variant,,ENST00000582372,;RP11-71H17.7,downstream_gene_variant,,ENST00000568966,;UMPS,missense_variant,p.Lys29Thr,ENST00000474588,;UMPS,missense_variant,p.Lys29Thr,ENST00000462091,;UMPS,missense_variant,p.Lys29Thr,ENST00000479719,;UMPS,missense_variant,p.Lys29Thr,ENST00000497791,;UMPS,missense_variant,p.Lys29Thr,ENST00000467167,;UMPS,missense_variant,p.Lys29Thr,ENST00000460034,;RP11-71H17.1,downstream_gene_variant,,ENST00000475510,;	192	181	166	SUCCESS
COL6A6	131873	.	GRCh37	3	130368056	130368056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	57	161	0	ENST00000358511.6:c.5383C>A	p.Pro1795Thr	p.P1795T	ENST00000358511	NM_001102608.1	1795	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS46911.1	5383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCCGTG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	32/36	.	.	.	.	.	.	.	.	.	32/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	deleterious(0)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Pro1795Thr,ENST00000453409,;COL6A6,missense_variant,p.Pro1795Thr,ENST00000358511,;COL6A6,intron_variant,,ENST00000506143,;	5414	161	164	SUCCESS
PPP2R3A	5523	.	GRCh37	3	135825091	135825091	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	76	0	ENST00000264977.3:c.3256T>A	p.Trp1086Arg	p.W1086R	ENST00000264977	NM_001190447.1	1086	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS3087.1	3256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGGGAC	NONE	.	.	hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3	.	.	ENSP00000264977	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000264977	Transcript	.	.	ENSG00000073711	9307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	P2R3A_HUMAN	PPP2R3A	HGNC	.	.	UPI0000124EAC	SNV	PPP2R3A,missense_variant,p.Trp350Arg,ENST00000490467,;PPP2R3A,missense_variant,p.Trp1086Arg,ENST00000264977,;PPP2R3A,missense_variant,p.Trp465Arg,ENST00000334546,;PPP2R3A,non_coding_transcript_exon_variant,,ENST00000469270,;	3873	76	95	SUCCESS
LIPH	200879	.	GRCh37	3	185234879	185234879	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	83	0	ENST00000296252.4:c.958A>T	p.Thr320Ser	p.T320S	ENST00000296252	NM_139248.2	320	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS3272.1	958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTGTCAA	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF12,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000296252	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000296252	Transcript	.	.	ENSG00000163898	18483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LIPH_HUMAN	LIPH	HGNC	A2IBA8_HUMAN	.	UPI000003AEB8	SNV	LIPH,missense_variant,p.Thr286Ser,ENST00000424591,;LIPH,missense_variant,p.Thr320Ser,ENST00000296252,;LIPH,downstream_gene_variant,,ENST00000452897,;LIPH,upstream_gene_variant,,ENST00000435679,;	1100	83	106	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274910	41274910	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	44	118	0	ENST00000349496.5:c.1160A>T	p.Asn387Ile	p.N387I	ENST00000349496	NM_001904.3	387	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS2694.1	1160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAATCTTT	BUFFER|p.N387K|c.1161T>G|3,BUFFER|p.N387K|c.1161T>A|4	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asn387Ile,ENST00000349496,;CTNNB1,missense_variant,p.Asn387Ile,ENST00000396185,;CTNNB1,missense_variant,p.Asn387Ile,ENST00000405570,;CTNNB1,missense_variant,p.Asn380Ile,ENST00000453024,;CTNNB1,missense_variant,p.Asn387Ile,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1440	118	141	SUCCESS
CCDC13	152206	.	GRCh37	3	42781149	42781149	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	106	0	ENST00000310232.6:c.1141G>A	p.Asp381Asn	p.D381N	ENST00000310232	NM_144719.3	381	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2705.1	1141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTCATCAT	NONE	.	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.12)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Asp381Asn,ENST00000310232,;CCDC13-AS1,intron_variant,,ENST00000446950,;CCDC13-AS1,intron_variant,,ENST00000418161,;	1225	106	97	SUCCESS
RRP9	9136	.	GRCh37	3	51969471	51969471	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	73	0	ENST00000232888.6:c.858G>A	p.Val286=	p.V286=	ENST00000232888	NM_004704.4	286	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2837.1	858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCACAGC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19865,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000232888	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000232888	Transcript	.	.	ENSG00000114767	16829	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	U3IP2_HUMAN	RRP9	HGNC	.	.	UPI000006F889	SNV	RRP9,synonymous_variant,p.%3D,ENST00000232888,;	932	73	77	SUCCESS
ERC2	26059	.	GRCh37	3	56468631	56468631	+	synonymous_variant	Silent	SNP	G	G	T	rs141688594	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	47	120	0	ENST00000288221.6:c.405C>A	p.Val135=	p.V135=	ENST00000288221	NM_015576.1	135	gtC/gtA	0	.	T:0.0008	.	T:0	.	T	V	protein_coding	YES	CCDS46851.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGACCTG	NONE	by1000G	.	hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3	T:0	.	ENSP00000288221	T:0	2/18	.	.	.	.	.	.	.	.	rs141688594	2/18	PASS	ENST00000288221	Transcript	.	T:0.0002	ENSG00000187672	31922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,synonymous_variant,p.%3D,ENST00000288221,;ERC2,non_coding_transcript_exon_variant,,ENST00000477381,;ERC2,non_coding_transcript_exon_variant,,ENST00000472917,;ERC2,synonymous_variant,p.%3D,ENST00000460849,;	661	120	139	SUCCESS
PDHB	5162	.	GRCh37	3	58419520	58419520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	27	91	0	ENST00000302746.6:c.17G>A	p.Gly6Asp	p.G6D	ENST00000302746	NM_000925.3	6	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2890.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCCAGAC	NONE	.	.	.	.	.	ENSP00000307241	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000302746	Transcript	.	.	ENSG00000168291	8808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated_low_confidence(0.21)	.	ODPB_HUMAN	PDHB	HGNC	.	.	UPI000013E81D	SNV	PDHB,missense_variant,p.Gly6Asp,ENST00000302746,;PDHB,missense_variant,p.Gly6Asp,ENST00000474765,;PDHB,missense_variant,p.Gly6Asp,ENST00000383714,;PDHB,missense_variant,p.Gly6Asp,ENST00000485460,;RP11-802O23.3,downstream_gene_variant,,ENST00000607214,;PDHB,missense_variant,p.Gly6Asp,ENST00000469364,;PDHB,non_coding_transcript_exon_variant,,ENST00000482894,;PDHB,non_coding_transcript_exon_variant,,ENST00000479945,;PDHB,non_coding_transcript_exon_variant,,ENST00000469827,;PDHB,non_coding_transcript_exon_variant,,ENST00000480626,;PDHB,non_coding_transcript_exon_variant,,ENST00000461692,;	60	91	126	SUCCESS
KIAA1109	84162	.	GRCh37	4	123097024	123097040	+	frameshift_variant	Frame_Shift_Del	DEL	ATTTTTCGGTGGTGGAA	ATTTTTCGGTGGTGGAA	-	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	ATTTTTCGGTGGTGGAA	ATTTTTCGGTGGTGGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	232	44	359	0	ENST00000264501.4:c.314_330del	p.Ile105AsnfsTer3	p.I105Nfs*3	ENST00000264501		105	ATTTTTCGGTGGTGGAAa/a	0	.	.	.	.	.	-	IFRWWK/X	protein_coding	YES	CCDS43267.1	313-329	PINDEL|VARSCANI*|INDELOCATOR*|MUSE*|MUTECT*|VARSCANS*	.	TTCATCATTTTTCGGTGGTGGAAAATGT	CODON|p.R107Q|c.320G>A|3	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	6/86	.	.	.	.	.	.	.	.	.	6/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	1	.	HIGH	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	deletion	KIAA1109,frameshift_variant,p.Ile105AsnfsTer3,ENST00000455637,;KIAA1109,frameshift_variant,p.Ile105AsnfsTer3,ENST00000264501,;KIAA1109,frameshift_variant,p.Ile105AsnfsTer3,ENST00000388738,;	686-702	359	276	SUCCESS
PCDH10	57575	.	GRCh37	4	134072769	134072769	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	60	0	ENST00000264360.5:c.1474G>C	p.Glu492Gln	p.E492Q	ENST00000264360	NM_032961.1	492	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS34063.1	1474	MUTECT|MUSE	.	GGGATGAGGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000264360	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.65)	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,missense_variant,p.Glu492Gln,ENST00000264360,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;PCDH10,upstream_gene_variant,,ENST00000511112,;	2300	60	63	SUCCESS
POU4F2	5458	.	GRCh37	4	147561765	147561765	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	74	0	ENST00000281321.3:c.1035G>A	p.Lys345=	p.K345=	ENST00000281321	NM_004575.2	345	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS34074.1	1035	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGAAGCG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00028	.	.	ENSP00000281321	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000281321	Transcript	.	.	ENSG00000151615	9219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO4F2_HUMAN	POU4F2	HGNC	.	.	UPI000013DC6C	SNV	POU4F2,synonymous_variant,p.%3D,ENST00000281321,;AC093887.1,downstream_gene_variant,,ENST00000584185,;	1283	74	64	SUCCESS
FGA	2243	.	GRCh37	4	155507454	155507455	+	inframe_insertion	In_Frame_Ins	INS	-	-	CAG	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	91	0	ENST00000302053.3:c.1124_1126dup	p.Ser375_Glu376insAla	p.S375_E376insA	ENST00000302053	NM_000508.3	376	gag/gCTGag	0	.	.	.	.	.	CAG	E/AE	protein_coding	YES	CCDS3787.1	1126-1127	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTCTCAGAG	BUFFER|p.E376K|c.1126G>A|3	.	.	hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	insertion	FGA,inframe_insertion,p.Ser375_Glu376insAla,ENST00000302053,;FGA,inframe_insertion,p.Ser375_Glu376insAla,ENST00000403106,;	1205-1206	91	79	SUCCESS
ADAM29	11086	.	GRCh37	4	175897952	175897952	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	115	0	ENST00000359240.3:c.1276C>T	p.Leu426=	p.L426=	ENST00000359240	NM_014269.4	426	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3823.1	1276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCTGTCA	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,synonymous_variant,p.%3D,ENST00000514159,;ADAM29,synonymous_variant,p.%3D,ENST00000445694,;ADAM29,synonymous_variant,p.%3D,ENST00000404450,;ADAM29,synonymous_variant,p.%3D,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	1946	115	98	SUCCESS
SLIT2	9353	.	GRCh37	4	20525746	20525746	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1333523681	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	111	0	ENST00000504154.1:c.1384C>T	p.Arg462Cys	p.R462C	ENST00000504154	NM_004787.1	462	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3426.1	1384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCCGCCTG	NONE	.	.	hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Pfam_domain:PF01463,SMART_domains:SM00082	.	.	ENSP00000422591	.	14/37	.	.	.	.	.	.	.	.	COSM1291889	14/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.Arg466Cys,ENST00000273739,;SLIT2,missense_variant,p.Arg462Cys,ENST00000504154,;SLIT2,missense_variant,p.Arg462Cys,ENST00000503823,;SLIT2,missense_variant,p.Arg466Cys,ENST00000503837,;MIR218-1,upstream_gene_variant,,ENST00000384999,;	1636	111	87	SUCCESS
FRAS1	80144	.	GRCh37	4	79238582	79238583	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs776570778	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	63	0	ENST00000264895.6:c.1887dup	p.Lys630GlnfsTer19	p.K630Qfs*19	ENST00000264895	NM_025074.6	627	agc/agCc	0	.	.	.	.	.	C	S/SX	protein_coding	YES	CCDS54771.1	1880-1881	INDELOCATOR|VARSCANI	.	CTGCAGCCCCC	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184	.	.	ENSP00000264895	.	17/74	.	.	.	.	.	.	.	.	rs776570778	17/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	insertion	FRAS1,frameshift_variant,p.Lys559GlnfsTer19,ENST00000502446,;FRAS1,frameshift_variant,p.Lys630GlnfsTer19,ENST00000325942,;FRAS1,frameshift_variant,p.Lys630GlnfsTer19,ENST00000264899,;FRAS1,frameshift_variant,p.Lys630GlnfsTer19,ENST00000264895,;FRAS1,frameshift_variant,p.Lys473GlnfsTer19,ENST00000508900,;	2320-2321	63	43	SUCCESS
SCD5	79966	.	GRCh37	4	83626515	83626515	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751126623	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	44	190	0	ENST00000319540.4:c.284G>A	p.Arg95His	p.R95H	ENST00000319540	NM_001037582.2	95	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34024.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGCGATGG	BUFFER|p.W97*|c.291G>A|3	.	.	hmmpanther:PTHR11351,hmmpanther:PTHR11351:SF22,Pfam_domain:PF00487,Prints_domain:PR00075	.	.	ENSP00000316329	.	2/5	.	.	.	.	.	.	.	.	rs751126623	2/5	PASS	ENST00000319540	Transcript	.	.	ENSG00000145284	21088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SCD5_HUMAN	SCD5	HGNC	.	.	UPI000003F556	SNV	SCD5,missense_variant,p.Arg95His,ENST00000282709,;SCD5,missense_variant,p.Arg95His,ENST00000319540,;SCD5,missense_variant,p.Arg95His,ENST00000273908,;	604	190	154	SUCCESS
MMRN1	22915	.	GRCh37	4	90856220	90856220	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	93	255	0	ENST00000264790.2:c.1389T>C	p.Ile463=	p.I463=	ENST00000264790	NM_007351.2	463	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS3635.1	1389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATTGTGAA	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,synonymous_variant,p.%3D,ENST00000394980,;MMRN1,synonymous_variant,p.%3D,ENST00000508372,;MMRN1,synonymous_variant,p.%3D,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	1708	255	259	SUCCESS
PAM	5066	.	GRCh37	5	102360991	102360991	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	58	179	0	ENST00000438793.3:c.2642T>A	p.Leu881Gln	p.L881Q	ENST00000438793	NM_001177306.1	881	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS43348.1	2642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGGCCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13	.	.	ENSP00000306100	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000304400	Transcript	.	.	ENSG00000145730	8596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	AMD_HUMAN	PAM	HGNC	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN	.	UPI000015618B	SNV	PAM,missense_variant,p.Leu176Gln,ENST00000504691,;PAM,missense_variant,p.Leu774Gln,ENST00000348126,;PAM,missense_variant,p.Leu881Gln,ENST00000304400,;PAM,missense_variant,p.Leu783Gln,ENST00000274392,;PAM,missense_variant,p.Leu881Gln,ENST00000438793,;PAM,missense_variant,p.Leu261Gln,ENST00000379787,;PAM,intron_variant,,ENST00000379799,;PAM,intron_variant,,ENST00000346918,;PAM,intron_variant,,ENST00000455264,;PAM,non_coding_transcript_exon_variant,,ENST00000504456,;PAM,non_coding_transcript_exon_variant,,ENST00000515456,;PAM,intron_variant,,ENST00000510006,;PAM,3_prime_UTR_variant,,ENST00000345721,;	2828	179	216	SUCCESS
MAN2A1	4124	.	GRCh37	5	109124644	109124644	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	331	11	240	0	ENST00000261483.4:c.1770T>G	p.His590Gln	p.H590Q	ENST00000261483	NM_002372.2	590	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS34209.1	1770	MUTECT|MUSE	.	TTTCATTCGTT	BUFFER|p.S591L|c.1772C>T|3	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:3bvxA02,Superfamily_domains:SSF88688	.	.	ENSP00000261483	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(0.31)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.His590Gln,ENST00000261483,;	2822	240	343	SUCCESS
PCDHB10	56126	.	GRCh37	5	140574371	140574371	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	24	99	0	ENST00000239446.4:c.2246A>T	p.Gln749Leu	p.Q749L	ENST00000239446	NM_018930.3	749	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4252.1	2246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCAGAGCT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious_low_confidence(0)	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,missense_variant,p.Gln749Leu,ENST00000239446,;PCDHB11,upstream_gene_variant,,ENST00000536699,;PCDHB11,upstream_gene_variant,,ENST00000354757,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	2430	99	119	SUCCESS
PCDHGA12	26025	.	GRCh37	5	140811741	140811741	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	99	166	0	ENST00000252085.3:c.1415T>A	p.Val472Asp	p.V472D	ENST00000252085	NM_003735.2	472	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS4260.1	1415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGTCTCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000252085	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252085	Transcript	.	.	ENSG00000253159	8699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious_low_confidence(0)	.	PCDGC_HUMAN	PCDHGA12	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073EA1	SNV	PCDHGA12,missense_variant,p.Val472Asp,ENST00000252085,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	1557	166	215	SUCCESS
FAT2	2196	.	GRCh37	5	150886868	150886868	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751925193	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	32	141	0	ENST00000261800.5:c.12364G>T	p.Ala4122Ser	p.A4122S	ENST00000261800	NM_001447.2	4122	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS4317.1	12364	RADIA|MUTECT|MUSE	.	AGAGGCCTTGC	NONE	byFrequency	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37	.	.	ENSP00000261800	.	22/23	.	.	.	.	.	.	.	.	rs751925193	22/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Ala4122Ser,ENST00000261800,;FAT2,missense_variant,p.Ala895Ser,ENST00000520200,;CTC-251D13.1,upstream_gene_variant,,ENST00000606930,;	12377	141	174	SUCCESS
LARP1	23367	.	GRCh37	5	154173763	154173763	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	273	92	282	0	ENST00000336314.4:c.942C>G	p.Ser314Arg	p.S314R	ENST00000336314	NM_015315.4	314	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS4328.1	942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCAGCAC	NONE	.	.	hmmpanther:PTHR22792:SF51,hmmpanther:PTHR22792	.	.	ENSP00000336721	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000336314	Transcript	.	.	ENSG00000155506	29531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.06)	.	LARP1_HUMAN	LARP1	HGNC	E5RHK4_HUMAN,E5RH50_HUMAN	.	UPI00001DFE1B	SNV	LARP1,missense_variant,p.Ser186Arg,ENST00000524248,;LARP1,missense_variant,p.Ser391Arg,ENST00000518297,;LARP1,missense_variant,p.Ser314Arg,ENST00000336314,;LARP1,missense_variant,p.Ser127Arg,ENST00000518194,;LARP1,missense_variant,p.Ser99Arg,ENST00000523163,;LARP1,upstream_gene_variant,,ENST00000518742,;LARP1,downstream_gene_variant,,ENST00000519931,;LARP1,downstream_gene_variant,,ENST00000517616,;LARP1,non_coding_transcript_exon_variant,,ENST00000518595,;LARP1,downstream_gene_variant,,ENST00000521577,;	966	282	366	SUCCESS
IRX1	79192	.	GRCh37	5	3600047	3600047	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	51	0	ENST00000302006.3:c.985G>A	p.Ala329Thr	p.A329T	ENST00000302006	NM_024337.3	329	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34132.1	985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTGCGCCC	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,Low_complexity_(Seg):seg	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.15)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Ala329Thr,ENST00000302006,;CTD-2012M11.3,non_coding_transcript_exon_variant,,ENST00000559410,;	1037	51	70	SUCCESS
NIPBL	25836	.	GRCh37	5	37008169	37008169	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	74	230	0	ENST00000282516.8:c.4299T>C	p.Cys1433=	p.C1433=	ENST00000282516	NM_133433.3	1433	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS3920.1	4299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGTGCCAT	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	19/47	.	.	.	.	.	.	.	.	.	19/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;	4798	230	226	SUCCESS
MAP1B	4131	.	GRCh37	5	71493190	71493190	+	synonymous_variant	Silent	SNP	C	C	T	rs771081682	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	100	0	ENST00000296755.7:c.4008C>T	p.Tyr1336=	p.Y1336=	ENST00000296755	NM_005909.3	1336	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS4012.1	4008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTACTATCA	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	rs771081682	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,synonymous_variant,p.%3D,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	4306	100	106	SUCCESS
CMYA5	202333	.	GRCh37	5	79026634	79026634	+	synonymous_variant	Silent	SNP	C	C	T	rs539952978	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	5	100	0	ENST00000446378.2:c.2046C>T	p.Asp682=	p.D682=	ENST00000446378	NM_153610.3	682	gaC/gaT	0	.	T:0	.	T:0.0014	.	T	D	protein_coding	YES	CCDS47238.1	2046	MUTECT|MUSE	.	GGAGACGAGGC	NONE	by1000G	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	T:0	.	ENSP00000394770	T:0	2/13	.	.	.	.	.	.	.	.	rs539952978	2/13	PASS	ENST00000446378	Transcript	.	T:0.0002	ENSG00000164309	14305	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,synonymous_variant,p.%3D,ENST00000446378,;	2077	100	142	SUCCESS
ACOT12	134526	.	GRCh37	5	80626218	80626218	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	71	104	0	ENST00000307624.3:c.1663T>G	p.Phe555Val	p.F555V	ENST00000307624	NM_130767.2	555	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS4055.1	1663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAATGTGC	NONE	.	.	.	.	.	ENSP00000303246	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000307624	Transcript	.	.	ENSG00000172497	24436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious_low_confidence(0.01)	.	ACO12_HUMAN	ACOT12	HGNC	.	.	UPI0000126D7B	SNV	ACOT12,missense_variant,p.Phe555Val,ENST00000307624,;ACOT12,non_coding_transcript_exon_variant,,ENST00000508234,;ACOT12,downstream_gene_variant,,ENST00000506440,;	1692	104	132	SUCCESS
GPR98	0	.	GRCh37	5	89924641	89924641	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747412638	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	40	84	0	ENST00000405460.2:c.1501C>A	p.Pro501Thr	p.P501T	ENST00000405460	NM_032119.3	501	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47246.1	1501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGCCAGCG	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	8/90	.	.	.	.	.	.	.	.	rs747412638	8/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Pro501Thr,ENST00000405460,;GPR98,missense_variant,p.Pro90Thr,ENST00000504142,;	1597	84	137	SUCCESS
SGK1	6446	.	GRCh37	6	134494621	134494621	+	synonymous_variant	Silent	SNP	G	G	A	rs1015971626	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	31	150	0	ENST00000237305.7:c.312C>T	p.Ile104=	p.I104=	ENST00000237305	NM_005627.3	104	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47476.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCGATCAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF148,hmmpanther:PTHR24356,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356832	.	6/14	.	.	.	.	.	.	.	.	COSM3858443,COSM3858444,COSM3858440,COSM3858442,COSM3858441	6/14	PASS	ENST00000367858	Transcript	.	.	ENSG00000118515	10810	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	SGK1_HUMAN	SGK1	HGNC	E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN	.	UPI000013CA0E	SNV	SGK1,synonymous_variant,p.%3D,ENST00000237305,;SGK1,synonymous_variant,p.%3D,ENST00000367858,;SGK1,synonymous_variant,p.%3D,ENST00000528577,;SGK1,synonymous_variant,p.%3D,ENST00000413996,;SGK1,synonymous_variant,p.%3D,ENST00000367857,;SGK1,synonymous_variant,p.%3D,ENST00000475719,;SGK1,downstream_gene_variant,,ENST00000461976,;SGK1,non_coding_transcript_exon_variant,,ENST00000524387,;SGK1,non_coding_transcript_exon_variant,,ENST00000489458,;SGK1,non_coding_transcript_exon_variant,,ENST00000531575,;SGK1,non_coding_transcript_exon_variant,,ENST00000534658,;SGK1,non_coding_transcript_exon_variant,,ENST00000532021,;SGK1,non_coding_transcript_exon_variant,,ENST00000474427,;SGK1,non_coding_transcript_exon_variant,,ENST00000532856,;SGK1,non_coding_transcript_exon_variant,,ENST00000475882,;SGK1,non_coding_transcript_exon_variant,,ENST00000490149,;SGK1,non_coding_transcript_exon_variant,,ENST00000367855,;SGK1,upstream_gene_variant,,ENST00000524764,;SGK1,upstream_gene_variant,,ENST00000531782,;SGK1,downstream_gene_variant,,ENST00000530421,;SGK1,upstream_gene_variant,,ENST00000473704,;SGK1,upstream_gene_variant,,ENST00000477460,;SGK1,downstream_gene_variant,,ENST00000472859,;SGK1,upstream_gene_variant,,ENST00000525877,;SGK1,downstream_gene_variant,,ENST00000525700,;	1195	150	144	SUCCESS
KATNA1	11104	.	GRCh37	6	149916182	149916182	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	105	0	ENST00000335647.5:c.1466G>C	p.Gly489Ala	p.G489A	ENST00000335647		489	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS5217.1	1466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCCAAAC	NONE	.	.	HAMAP:MF_03023,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF71,Pfam_domain:PF09336	.	.	ENSP00000356381	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000367411	Transcript	.	.	ENSG00000186625	6216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KTNA1_HUMAN	KATNA1	HGNC	B7ZBC9_HUMAN,B7ZBC8_HUMAN	.	UPI0000071D68	SNV	KATNA1,missense_variant,p.Gly489Ala,ENST00000367411,;KATNA1,missense_variant,p.Gly489Ala,ENST00000335647,;KATNA1,3_prime_UTR_variant,,ENST00000335643,;GINM1,downstream_gene_variant,,ENST00000367419,;SNORA2,downstream_gene_variant,,ENST00000365473,;RP1-12G14.7,upstream_gene_variant,,ENST00000419134,;KATNA1,downstream_gene_variant,,ENST00000481905,;KATNA1,downstream_gene_variant,,ENST00000494504,;KATNA1,downstream_gene_variant,,ENST00000470620,;RPS18P9,downstream_gene_variant,,ENST00000482817,;	1725	105	62	SUCCESS
PARK2	0	.	GRCh37	6	162206857	162206857	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs373750972	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	41	144	0	ENST00000366898.1:c.818A>G	p.Asn273Ser	p.N273S	ENST00000366898	NM_004562.2	273	aAt/aGt	0	C:0	.	.	.	.	C	N/S	protein_coding	YES	CCDS5281.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCATTGAGT	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF037880,hmmpanther:PTHR11685:SF98,hmmpanther:PTHR11685	.	C:0.0001	ENSP00000355865	.	7/12	.	.	.	.	.	.	.	.	rs373750972,CM080475	7/12	PASS	ENST00000366898	Transcript	.	.	ENSG00000185345	8607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.967)	.	tolerated(0.09)	.	PRKN2_HUMAN	PARK2	HGNC	M4T2U2_HUMAN,Q6S8G7_HUMAN,Q6Q2I8_HUMAN,Q5XNR7_HUMAN	.	UPI00003673FE	SNV	PARK2,missense_variant,p.Asn245Ser,ENST00000366897,;PARK2,missense_variant,p.Asn124Ser,ENST00000366896,;PARK2,missense_variant,p.Asn273Ser,ENST00000366898,;PARK2,missense_variant,p.Asn82Ser,ENST00000338468,;PARK2,missense_variant,p.Asn82Ser,ENST00000366894,;PARK2,missense_variant,p.Asn273Ser,ENST00000366892,;PARK2,missense_variant,p.Asn194Ser,ENST00000479615,;	921	144	140	SUCCESS
WDR46	9277	.	GRCh37	6	33254618	33254618	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	113	0	ENST00000374617.4:c.1069T>A	p.Cys357Ser	p.C357S	ENST00000374617	NM_005452.5	357	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS4772.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAGAGAA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR14085,hmmpanther:PTHR14085:SF3,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000363746	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000374617	Transcript	.	.	ENSG00000227057	13923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	deleterious(0.03)	.	WDR46_HUMAN	WDR46	HGNC	.	.	UPI000045741F	SNV	WDR46,missense_variant,p.Cys284Ser,ENST00000444176,;WDR46,missense_variant,p.Cys357Ser,ENST00000374617,;PFDN6,upstream_gene_variant,,ENST00000395131,;PFDN6,upstream_gene_variant,,ENST00000374607,;PFDN6,upstream_gene_variant,,ENST00000374610,;RGL2,downstream_gene_variant,,ENST00000497454,;PFDN6,upstream_gene_variant,,ENST00000463584,;PFDN6,upstream_gene_variant,,ENST00000374606,;WDR46,downstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000437840,;RGL2,downstream_gene_variant,,ENST00000491168,;WDR46,downstream_gene_variant,,ENST00000468157,;B3GALT4,downstream_gene_variant,,ENST00000606990,;WDR46,non_coding_transcript_exon_variant,,ENST00000489905,;WDR46,downstream_gene_variant,,ENST00000481025,;PFDN6,upstream_gene_variant,,ENST00000395134,;WDR46,downstream_gene_variant,,ENST00000488944,;PFDN6,upstream_gene_variant,,ENST00000491382,;RGL2,downstream_gene_variant,,ENST00000483151,;	1426	113	106	SUCCESS
KIAA1009	0	.	GRCh37	6	84910598	84910598	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	99	0	ENST00000403245.3:c.744T>A	p.Ser248=	p.S248=	ENST00000403245	NM_014895.2	248	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34494.2	744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACAGAGTC	NONE	.	.	.	.	.	ENSP00000385215	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000403245	Transcript	.	.	ENSG00000135315	21107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE162_HUMAN	KIAA1009	HGNC	B3KN48_HUMAN	.	UPI0001533DAA	SNV	KIAA1009,synonymous_variant,p.%3D,ENST00000403245,;KIAA1009,synonymous_variant,p.%3D,ENST00000257766,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000497936,;	859	99	105	SUCCESS
EGFR	1956	.	GRCh37	7	55225380	55225380	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	137	0	ENST00000275493.2:c.1232C>G	p.Pro411Arg	p.P411R	ENST00000275493	NM_005228.3	411	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS5514.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCTGAAA	NONE	.	.	Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	.	.	ENSP00000275493	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,missense_variant,p.Pro358Arg,ENST00000454757,;EGFR,missense_variant,p.Pro411Arg,ENST00000344576,;EGFR,missense_variant,p.Pro411Arg,ENST00000342916,;EGFR,missense_variant,p.Pro411Arg,ENST00000275493,;EGFR,missense_variant,p.Pro366Arg,ENST00000455089,;EGFR,missense_variant,p.Pro411Arg,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000420316,;	1409	137	111	SUCCESS
POLR2K	5440	.	GRCh37	8	101163580	101163580	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	102	107	0	ENST00000353107.3:c.-4A>G		p.*2*	ENST00000353107	NM_005034.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTAACAAT	NONE	.	.	.	.	.	ENSP00000342889	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000353107	Transcript	.	.	ENSG00000147669	9198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPAB4_HUMAN	POLR2K	HGNC	.	.	UPI000013460D	SNV	POLR2K,5_prime_UTR_variant,,ENST00000522439,;POLR2K,5_prime_UTR_variant,,ENST00000353107,;POLR2K,non_coding_transcript_exon_variant,,ENST00000519765,;	132	107	182	SUCCESS
KLF10	7071	.	GRCh37	8	103663550	103663550	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1307576689	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	34	149	0	ENST00000285407.6:c.1010A>G	p.Asn337Ser	p.N337S	ENST00000285407	NM_005655.3	337	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6294.1	1010	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATTCGGG	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF21	.	.	ENSP00000285407	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000285407	Transcript	.	.	ENSG00000155090	11810	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.36)	.	KLF10_HUMAN	KLF10	HGNC	.	.	UPI000012DED8	SNV	KLF10,missense_variant,p.Asn326Ser,ENST00000395884,;KLF10,missense_variant,p.Asn337Ser,ENST00000285407,;	1311	149	209	SUCCESS
TRPS1	7227	.	GRCh37	8	116632123	116632123	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	121	115	0	ENST00000220888.5:c.163A>C	p.Asn55His	p.N55H	ENST00000220888		55	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS6318.2	202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATTTAGTT	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.01)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Asn59His,ENST00000520276,;TRPS1,missense_variant,p.Asn55His,ENST00000519076,;TRPS1,missense_variant,p.Asn68His,ENST00000395715,;TRPS1,missense_variant,p.Asn55His,ENST00000519674,;TRPS1,missense_variant,p.Asn55His,ENST00000220888,;TRPS1,missense_variant,p.Asn68His,ENST00000519815,;TRPS1,missense_variant,p.Asn59His,ENST00000517323,;TRPS1,missense_variant,p.Asn68His,ENST00000395713,;TRPS1,downstream_gene_variant,,ENST00000451156,;TRPS1,downstream_gene_variant,,ENST00000422939,;	780	115	201	SUCCESS
CYP11B2	1585	.	GRCh37	8	143996179	143996179	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	326	99	313	0	ENST00000323110.2:c.741G>T	p.Trp247Cys	p.W247C	ENST00000323110	NM_000498.3	247	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS6393.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATCCAGCG	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,missense_variant,p.Trp247Cys,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	744	313	425	SUCCESS
CYP11B2	1585	.	GRCh37	8	143996180	143996180	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	324	101	311	0	ENST00000323110.2:c.740G>T	p.Trp247Leu	p.W247L	ENST00000323110	NM_000498.3	247	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS6393.1	740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCAGCGA	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.533)	.	tolerated(0.25)	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,missense_variant,p.Trp247Leu,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	743	312	425	SUCCESS
XPO7	23039	.	GRCh37	8	21842213	21842213	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	36	98	0	ENST00000252512.9:c.1334A>T	p.Gln445Leu	p.Q445L	ENST00000252512	NM_015024.4	445	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47818.1	1334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAGCTGT	NONE	.	.	hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7,Superfamily_domains:SSF48371	.	.	ENSP00000252512	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000252512	Transcript	.	.	ENSG00000130227	14108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.05)	.	XPO7_HUMAN	XPO7	HGNC	E5RIW1_HUMAN,B4DSP8_HUMAN	.	UPI0000134559	SNV	XPO7,missense_variant,p.Gln445Leu,ENST00000252512,;XPO7,missense_variant,p.Gln454Leu,ENST00000434536,;XPO7,missense_variant,p.Gln446Leu,ENST00000433566,;XPO7,upstream_gene_variant,,ENST00000518808,;	1434	98	68	SUCCESS
ASPH	444	.	GRCh37	8	62593583	62593583	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	89	304	0	ENST00000379454.4:c.266T>C	p.Ile89Thr	p.I89T	ENST00000379454	NM_004318.3	89	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS34898.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGATTCCT	NONE	.	.	Pfam_domain:PF05279,hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF20	.	.	ENSP00000368767	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated_low_confidence(0.17)	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,missense_variant,p.Ile60Thr,ENST00000522349,;ASPH,missense_variant,p.Ile89Thr,ENST00000517856,;ASPH,missense_variant,p.Ile60Thr,ENST00000522603,;ASPH,missense_variant,p.Ile104Thr,ENST00000379449,;ASPH,missense_variant,p.Ile104Thr,ENST00000519234,;ASPH,missense_variant,p.Ile89Thr,ENST00000356457,;ASPH,missense_variant,p.Ile75Thr,ENST00000522835,;ASPH,missense_variant,p.Ile75Thr,ENST00000517847,;ASPH,missense_variant,p.Ile89Thr,ENST00000379454,;ASPH,missense_variant,p.Ile75Thr,ENST00000517903,;ASPH,missense_variant,p.Ile60Thr,ENST00000541428,;ASPH,missense_variant,p.Ile89Thr,ENST00000518068,;ASPH,missense_variant,p.Ile75Thr,ENST00000517661,;ASPH,missense_variant,p.Ile60Thr,ENST00000518306,;ASPH,missense_variant,p.Ile75Thr,ENST00000445642,;ASPH,missense_variant,p.Ile75Thr,ENST00000389204,;ASPH,non_coding_transcript_exon_variant,,ENST00000517928,;ASPH,upstream_gene_variant,,ENST00000523927,;ASPH,non_coding_transcript_exon_variant,,ENST00000522325,;ASPH,downstream_gene_variant,,ENST00000522036,;	454	304	299	SUCCESS
LY96	23643	.	GRCh37	8	74917085	74917085	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	116	329	1	ENST00000284818.2:c.167G>T	p.Arg56Ile	p.R56I	ENST00000284818	NM_015364.4	56	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS6216.1	167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAGATCCA	NONE	.	.	hmmpanther:PTHR15218,Pfam_domain:PF02221,SMART_domains:SM00737,Superfamily_domains:SSF81296	.	.	ENSP00000284818	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000284818	Transcript	.	.	ENSG00000154589	17156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.01)	.	LY96_HUMAN	LY96	HGNC	.	.	UPI000013DDBB	SNV	LY96,missense_variant,p.Arg56Ile,ENST00000284818,;LY96,intron_variant,,ENST00000518893,;	258	330	363	SUCCESS
OSR2	116039	.	GRCh37	8	99961205	99961205	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1284390401	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	70	0	ENST00000297565.4:c.25C>T	p.Pro9Ser	p.P9S	ENST00000297565	NM_001142462.1	9	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47901.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGCCCATC	NONE	.	.	hmmpanther:PTHR14196:SF4,hmmpanther:PTHR14196	.	.	ENSP00000297565	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297565	Transcript	.	.	ENSG00000164920	15830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0)	.	OSR2_HUMAN	OSR2	HGNC	E5RH47_HUMAN	.	UPI00001AEC4D	SNV	OSR2,missense_variant,p.Pro9Ser,ENST00000297565,;OSR2,missense_variant,p.Pro62Ser,ENST00000520951,;OSR2,missense_variant,p.Pro130Ser,ENST00000457907,;OSR2,missense_variant,p.Pro9Ser,ENST00000522510,;OSR2,missense_variant,p.Pro9Ser,ENST00000518199,;OSR2,missense_variant,p.Pro9Ser,ENST00000523368,;OSR2,missense_variant,p.Pro9Ser,ENST00000435298,;RP11-44N12.5,downstream_gene_variant,,ENST00000606778,;OSR2,intron_variant,,ENST00000520722,;OSR2,intron_variant,,ENST00000521044,;OSR2,downstream_gene_variant,,ENST00000520791,;	521	70	90	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136308523	136308523	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	17	0	ENST00000371929.3:c.2261G>A	p.Cys754Tyr	p.C754Y	ENST00000371929	NM_139025.4	754	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS6970.1	2261	MUTECT|MUSE	.	CCCATGCAGCG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000360997	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,missense_variant,p.Cys754Tyr,ENST00000355699,;ADAMTS13,missense_variant,p.Cys723Tyr,ENST00000356589,;ADAMTS13,missense_variant,p.Cys754Tyr,ENST00000371929,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,intron_variant,,ENST00000536611,;ADAMTS13,intron_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;ADAMTS13,intron_variant,,ENST00000495234,;	2705	17	13	SUCCESS
NACC2	138151	.	GRCh37	9	138903604	138903604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	24	0	ENST00000277554.2:c.1522G>T	p.Ala508Ser	p.A508S	ENST00000277554	NM_144653.4	508	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6993.1	1522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCACGA	NONE	.	.	.	.	.	ENSP00000360818	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371753	Transcript	.	.	ENSG00000148411	23846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.1)	.	NACC2_HUMAN	NACC2	HGNC	.	.	UPI0000073EEB	SNV	NACC2,missense_variant,p.Ala508Ser,ENST00000277554,;NACC2,missense_variant,p.Ala508Ser,ENST00000371753,;NACC2,downstream_gene_variant,,ENST00000467669,;	1581	24	31	SUCCESS
DOCK8	81704	.	GRCh37	9	396809	396809	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs745843220	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	105	0	ENST00000432829.2:c.2791C>G	p.His931Asp	p.H931D	ENST00000432829	NM_203447.3	931	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS6440.2	2995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTACATAAC	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74	.	.	ENSP00000408464	.	25/48	.	.	.	.	.	.	.	.	rs745843220	25/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.23)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.His931Asp,ENST00000432829,;DOCK8,missense_variant,p.His999Asp,ENST00000453981,;DOCK8,missense_variant,p.His301Asp,ENST00000382331,;DOCK8,missense_variant,p.His899Asp,ENST00000469391,;DOCK8,missense_variant,p.His466Asp,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	3107	105	93	SUCCESS
PRKACG	5568	.	GRCh37	9	71629038	71629039	+	5_prime_UTR_variant	5'UTR	INS	-	-	GCGGCGGCG	rs746176722	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	22	0	ENST00000377276.2:c.-31_-30insCGCCGCCGC		p.*11*	ENST00000377276	NM_002732.3			0	.	.	.	.	.	GCGGCGGCG	.	protein_coding	YES	CCDS6625.1	.	INDELOCATOR|VARSCANI	.	GGTCTCGCGGC	NONE	byCluster	.	.	.	.	ENSP00000366488	.	1/1	.	.	.	.	.	.	.	.	rs752732570	1/1	PASS	ENST00000377276	Transcript	.	.	ENSG00000165059	9382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAPCG_HUMAN	PRKACG	HGNC	.	.	UPI000013E448	insertion	PRKACG,5_prime_UTR_variant,,ENST00000377276,;PIP5K1B,downstream_gene_variant,,ENST00000265382,;PIP5K1B,downstream_gene_variant,,ENST00000478500,;	1-2	22	36	SUCCESS
MSL3	10943	.	GRCh37	X	11783626	11783626	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	51	80	0	ENST00000312196.4:c.949C>A	p.Pro317Thr	p.P317T	ENST00000312196	NM_078629.3	317	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS14147.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCCATCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF05712,hmmpanther:PTHR10880:SF26,hmmpanther:PTHR10880,PROSITE_profiles:PS51640	.	.	ENSP00000312244	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000312196	Transcript	.	.	ENSG00000005302	7370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	MS3L1_HUMAN	MSL3	HGNC	F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN	.	UPI000006E6B7	SNV	MSL3,missense_variant,p.Pro305Thr,ENST00000398527,;MSL3,missense_variant,p.Pro151Thr,ENST00000380692,;MSL3,missense_variant,p.Pro151Thr,ENST00000380693,;MSL3,missense_variant,p.Pro317Thr,ENST00000337339,;MSL3,missense_variant,p.Pro317Thr,ENST00000312196,;MSL3,missense_variant,p.Pro168Thr,ENST00000361672,;MSL3,downstream_gene_variant,,ENST00000476743,;MSL3,downstream_gene_variant,,ENST00000421368,;MSL3,upstream_gene_variant,,ENST00000467141,;MSL3,downstream_gene_variant,,ENST00000473806,;MSL3,downstream_gene_variant,,ENST00000483645,;MSL3,3_prime_UTR_variant,,ENST00000468149,;MSL3,intron_variant,,ENST00000380691,;MSL3,downstream_gene_variant,,ENST00000494268,;MSL3,downstream_gene_variant,,ENST00000478462,;MSL3,upstream_gene_variant,,ENST00000473380,;MSL3,downstream_gene_variant,,ENST00000482871,;	1054	80	66	SUCCESS
FANCB	2187	.	GRCh37	X	14876077	14876077	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	87	146	0	ENST00000324138.3:c.1105-1G>A		p.X369_splice	ENST00000324138	NM_152633.2	369		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14161.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCTAATA	NONE	.	.	.	.	.	ENSP00000381378	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398334	Transcript	.	.	ENSG00000181544	3583	.	.	HIGH	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANCB_HUMAN	FANCB	HGNC	C9J5X9_HUMAN	.	UPI000006E70A	SNV	FANCB,splice_acceptor_variant,,ENST00000324138,;FANCB,splice_acceptor_variant,,ENST00000398334,;FANCB,splice_acceptor_variant,,ENST00000452869,;	.	146	120	SUCCESS
NLGN4X	57502	.	GRCh37	X	5810976	5810976	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	71	168	0	ENST00000275857.6:c.2333C>T	p.Thr778Ile	p.T778I	ENST00000275857	NM_020742.2	778	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS14126.1	2333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGTGTTT	NONE	.	.	.	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious_low_confidence(0)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Thr778Ile,ENST00000381092,;NLGN4X,missense_variant,p.Thr778Ile,ENST00000381095,;NLGN4X,missense_variant,p.Thr798Ile,ENST00000381093,;NLGN4X,missense_variant,p.Thr778Ile,ENST00000538097,;NLGN4X,missense_variant,p.Thr778Ile,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	2961	168	134	SUCCESS
CCDC147	0	.	GRCh37	10	106128178	106128178	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	74	0	ENST00000369704.3:c.793-3C>A		p.X265_splice	ENST00000369704	NM_001008723.1	265		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31282.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCAGATA	NONE	.	.	.	.	.	ENSP00000358718	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369704	Transcript	.	.	ENSG00000120051	26676	.	.	LOW	5/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC147_HUMAN	CCDC147	HGNC	B4DK97_HUMAN	.	UPI0000160405	SNV	CCDC147,splice_region_variant,,ENST00000312902,;CCDC147,splice_region_variant,,ENST00000369704,;	.	74	76	SUCCESS
ACSL5	51703	.	GRCh37	10	114168208	114168208	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs140011392	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	62	136	0	ENST00000354273.4:c.461C>G	p.Thr154Arg	p.T154R	ENST00000354273		154	aCg/aGg	0	T:0	.	.	.	.	G	T/R	protein_coding	YES	CCDS7572.1	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACACGTACT	NONE	byCluster	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF143,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	T:0.0001	ENSP00000348429	.	6/21	.	.	.	.	.	.	.	.	rs140011392	6/21	PASS	ENST00000356116	Transcript	.	.	ENSG00000197142	16526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious(0.01)	.	ACSL5_HUMAN	ACSL5	HGNC	.	.	UPI000003ED0C	SNV	ACSL5,missense_variant,p.Thr210Arg,ENST00000356116,;ACSL5,missense_variant,p.Thr154Arg,ENST00000354273,;ACSL5,missense_variant,p.Thr154Arg,ENST00000433418,;ACSL5,missense_variant,p.Thr154Arg,ENST00000354655,;ACSL5,missense_variant,p.Thr154Arg,ENST00000393081,;ACSL5,upstream_gene_variant,,ENST00000369410,;RP11-324O2.3,non_coding_transcript_exon_variant,,ENST00000598447,;RP11-324O2.3,intron_variant,,ENST00000449782,;RP11-324O2.3,intron_variant,,ENST00000594870,;RP11-324O2.6,downstream_gene_variant,,ENST00000424422,;ACSL5,non_coding_transcript_exon_variant,,ENST00000479936,;ACSL5,upstream_gene_variant,,ENST00000467340,;ACSL5,upstream_gene_variant,,ENST00000495539,;	741	136	141	SUCCESS
KCNK18	338567	.	GRCh37	10	118969678	118969678	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	96	0	ENST00000334549.1:c.1023C>G	p.Ser341=	p.S341=	ENST00000334549	NM_181840.1	341	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7598.1	1023	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCATTTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF91,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000334650	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334549	Transcript	1	.	ENSG00000186795	19439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKI_HUMAN	KCNK18	HGNC	.	.	UPI0000046427	SNV	KCNK18,synonymous_variant,p.%3D,ENST00000334549,;	1023	96	88	SUCCESS
PRLHR	2834	.	GRCh37	10	120354363	120354363	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	25	0	ENST00000239032.2:c.394G>A	p.Gly132Ser	p.G132S	ENST00000239032	NM_004248.2	132	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS7606.1	394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCGCCGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01018	.	.	ENSP00000239032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239032	Transcript	.	.	ENSG00000119973	4464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.36)	.	PRLHR_HUMAN	PRLHR	HGNC	.	.	UPI000013CA6F	SNV	PRLHR,missense_variant,p.Gly132Ser,ENST00000369169,;PRLHR,missense_variant,p.Gly132Ser,ENST00000239032,;	533	25	31	SUCCESS
NPFFR1	64106	.	GRCh37	10	72015152	72015152	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	20	0	ENST00000277942.6:c.854C>T	p.Pro285Leu	p.P285L	ENST00000277942	NM_022146.4	285	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS53539.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCGGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF4,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000277942	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000277942	Transcript	.	.	ENSG00000148734	17425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NPFF1_HUMAN	NPFFR1	HGNC	Q5T6D8_HUMAN	.	UPI000005048B	SNV	NPFFR1,missense_variant,p.Pro285Leu,ENST00000277942,;	854	20	16	SUCCESS
CYP2R1	120227	.	GRCh37	11	14902228	14902228	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	56	110	0	ENST00000334636.5:c.454A>C	p.Lys152Gln	p.K152Q	ENST00000334636	NM_024514.4	152	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS7818.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTTTTGGC	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF48,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000334592	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000334636	Transcript	.	.	ENSG00000186104	20580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.385)	.	deleterious(0)	.	CP2R1_HUMAN	CYP2R1	HGNC	.	.	UPI000003F04B	SNV	CYP2R1,missense_variant,p.Lys152Gln,ENST00000334636,;CYP2R1,intron_variant,,ENST00000532378,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000529043,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000526489,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000532641,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000526276,;CYP2R1,3_prime_UTR_variant,,ENST00000534686,;CYP2R1,3_prime_UTR_variant,,ENST00000530609,;CYP2R1,3_prime_UTR_variant,,ENST00000532805,;CYP2R1,intron_variant,,ENST00000525015,;	501	110	129	SUCCESS
C11orf40	143501	.	GRCh37	11	4592676	4592676	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	67	0	ENST00000307616.1:c.631A>G	p.Asn211Asp	p.N211D	ENST00000307616	NM_144663.1	211	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS31354.1	631	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTTCACAT	NONE	.	.	.	.	.	ENSP00000302918	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000307616	Transcript	.	.	ENSG00000171987	23986	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.486)	.	deleterious_low_confidence(0)	.	CK040_HUMAN	C11orf40	HGNC	.	.	UPI0000073B2B	SNV	C11orf40,missense_variant,p.Asn211Asp,ENST00000307616,;	631	67	64	SUCCESS
OR51F1	256892	.	GRCh37	11	4790712	4790712	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753769597	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	58	0	ENST00000380383.1:c.457A>G	p.Met153Val	p.M153V	ENST00000380383		153	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS31359.1	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCATTTGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000345163	.	1/1	.	.	.	.	.	.	.	.	rs753769597	1/1	PASS	ENST00000343430	Transcript	.	.	ENSG00000188069	15196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.11)	.	.	OR51F1	HGNC	A6NLW9_HUMAN	.	UPI000016148C	SNV	OR51F1,missense_variant,p.Met146Val,ENST00000343430,;OR51F1,missense_variant,p.Met153Val,ENST00000380383,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	436	58	71	SUCCESS
FOLH1	2346	.	GRCh37	11	49230071	49230071	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	8	0	ENST00000256999.2:c.-110G>A		p.*37*	ENST00000256999	NM_004476.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7946.1	.	MUTECT|MUSE|VARSCANS	.	AATGCCTCGCT	NONE	.	.	.	.	.	ENSP00000256999	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000256999	Transcript	.	.	ENSG00000086205	3788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOLH1_HUMAN	FOLH1	HGNC	Q7Z5D2_HUMAN,Q2VPJ0_HUMAN,E9PMK6_HUMAN,E9PKM3_HUMAN	.	UPI0000000A01	SNV	FOLH1,5_prime_UTR_variant,,ENST00000340334,;FOLH1,5_prime_UTR_variant,,ENST00000256999,;FOLH1,5_prime_UTR_variant,,ENST00000356696,;FOLH1,5_prime_UTR_variant,,ENST00000343844,;FOLH1,upstream_gene_variant,,ENST00000533034,;FOLH1,upstream_gene_variant,,ENST00000529117,;FOLH1,5_prime_UTR_variant,,ENST00000525826,;FOLH1,5_prime_UTR_variant,,ENST00000533510,;FOLH1,5_prime_UTR_variant,,ENST00000529648,;FOLH1,upstream_gene_variant,,ENST00000529646,;	152	8	20	SUCCESS
OR8I2	120586	.	GRCh37	11	55861688	55861688	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759926706	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	40	0	ENST00000302124.2:c.905G>A	p.Arg302Lys	p.R302K	ENST00000302124	NM_001003750.1	302	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS31517.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGAGTCA	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303864	.	1/1	.	.	.	.	.	.	.	.	rs759926706,COSM136834	1/1	PASS	ENST00000302124	Transcript	.	.	ENSG00000172154	15310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	tolerated(0.41)	0,1	OR8I2_HUMAN	OR8I2	HGNC	H0YLY8_HUMAN	.	UPI0000041D16	SNV	OR8I2,missense_variant,p.Arg302Lys,ENST00000302124,;OR8I4P,downstream_gene_variant,,ENST00000526965,;	936	40	26	SUCCESS
CD5	921	.	GRCh37	11	60882526	60882526	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs1372431875	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	20	0	ENST00000347785.3:c.56-2A>G		p.X19_splice	ENST00000347785	NM_014207.3	19		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8000.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGTCGC	NONE	.	.	.	.	.	ENSP00000342681	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000347785	Transcript	.	.	ENSG00000110448	1685	.	.	HIGH	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5_HUMAN	CD5	HGNC	H6D9U9_HUMAN	.	UPI000013D472	SNV	CD5,splice_acceptor_variant,,ENST00000347785,;CD5,splice_acceptor_variant,,ENST00000544014,;	.	21	22	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65359477	65359477	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	51	0	ENST00000309295.4:c.4388G>T	p.Arg1463Leu	p.R1463L	ENST00000309295	NM_001099409.1	1463	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS44649.1	4388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGAGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069,Pfam_domain:PF12130	.	.	ENSP00000312671	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	SNV	EHBP1L1,missense_variant,p.Arg1463Leu,ENST00000309295,;EHBP1L1,missense_variant,p.Arg68Leu,ENST00000533364,;AP001362.1,synonymous_variant,p.%3D,ENST00000597463,;KCNK7,downstream_gene_variant,,ENST00000530380,;KCNK7,downstream_gene_variant,,ENST00000342202,;KCNK7,downstream_gene_variant,,ENST00000340313,;KCNK7,downstream_gene_variant,,ENST00000525254,;KCNK7,downstream_gene_variant,,ENST00000394216,;KCNK7,downstream_gene_variant,,ENST00000394217,;EHBP1L1,splice_region_variant,,ENST00000529596,;EHBP1L1,splice_region_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000529056,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000527214,;	4653	51	49	SUCCESS
ADRBK1	0	.	GRCh37	11	67046702	67046702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	34	94	0	ENST00000308595.5:c.222C>A	p.Asn74Lys	p.N74K	ENST00000308595	NM_001619.3	74	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS8156.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAACCACCT	NONE	.	.	Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,hmmpanther:PTHR24355:SF22,hmmpanther:PTHR24355,PROSITE_profiles:PS50132	.	.	ENSP00000312262	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000308595	Transcript	.	.	ENSG00000173020	289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.1)	.	ARBK1_HUMAN	ADRBK1	HGNC	.	.	UPI0000001C68	SNV	ADRBK1,missense_variant,p.Asn74Lys,ENST00000526285,;ADRBK1,missense_variant,p.Asn74Lys,ENST00000308595,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000530291,;ADRBK1,upstream_gene_variant,,ENST00000529738,;ADRBK1,upstream_gene_variant,,ENST00000532611,;ADRBK1,upstream_gene_variant,,ENST00000527176,;ADRBK1,upstream_gene_variant,,ENST00000534651,;ADRBK1,upstream_gene_variant,,ENST00000532099,;ADRBK1,upstream_gene_variant,,ENST00000531390,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000416281,;ADRBK1,upstream_gene_variant,,ENST00000526572,;ADRBK1,upstream_gene_variant,,ENST00000533077,;ADRBK1,upstream_gene_variant,,ENST00000529815,;	512	94	87	SUCCESS
PIWIL4	143689	.	GRCh37	11	94318670	94318670	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs574384867	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	57	111	0	ENST00000299001.6:c.695C>A	p.Pro232Gln	p.P232Q	ENST00000299001	NM_152431.2	232	cCa/cAa	0	.	T:0.0008	.	T:0	.	A	P/Q	protein_coding	YES	CCDS31656.1	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCAATGG	NONE	by1000G	.	hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Superfamily_domains:SSF101690	T:0	.	ENSP00000299001	T:0	6/20	.	.	.	.	.	.	.	.	rs574384867	6/20	PASS	ENST00000299001	Transcript	.	T:0.0002	ENSG00000134627	18444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	T:0	deleterious(0.04)	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,missense_variant,p.Pro232Gln,ENST00000299001,;PIWIL4,downstream_gene_variant,,ENST00000545603,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,missense_variant,p.Pro163Gln,ENST00000543336,;PIWIL4,missense_variant,p.Pro205Gln,ENST00000446230,;	906	111	71	SUCCESS
CHST11	50515	.	GRCh37	12	105151023	105151023	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs770874557	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	61	0	ENST00000303694.5:c.501C>A	p.Tyr167Ter	p.Y167*	ENST00000303694	NM_018413.5	167	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS9099.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTACAGCAT	NONE	.	.	hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF32,Pfam_domain:PF03567	.	.	ENSP00000305725	.	3/3	.	.	.	.	.	.	.	.	rs770874557	3/3	PASS	ENST00000303694	Transcript	.	.	ENSG00000171310	17422	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTB_HUMAN	CHST11	HGNC	F8VXK3_HUMAN	.	UPI000004A091	SNV	CHST11,stop_gained,p.Tyr162Ter,ENST00000549260,;CHST11,stop_gained,p.Tyr127Ter,ENST00000549016,;CHST11,stop_gained,p.Tyr167Ter,ENST00000303694,;	940	61	68	SUCCESS
ARID2	196528	.	GRCh37	12	46246151	46246151	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	59	153	0	ENST00000334344.6:c.4245T>G	p.Ile1415Met	p.I1415M	ENST00000334344	NM_152641.2	1415	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS31783.1	4245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATTTCTAA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated_low_confidence(0.32)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Ile1415Met,ENST00000334344,;ARID2,missense_variant,p.Ile1025Met,ENST00000444670,;ARID2,missense_variant,p.Ile1266Met,ENST00000422737,;ARID2,missense_variant,p.Ile23Met,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	4417	153	145	SUCCESS
KRT81	3887	.	GRCh37	12	52680104	52680104	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs115355093	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	64	0	ENST00000327741.5:c.1453G>A	p.Val485Met	p.V485M	ENST00000327741	NM_002281.3	485	Gtg/Atg	0	T:0.013	T:0.0265	.	T:0	.	T	V/M	protein_coding	YES	CCDS31805.1	1453	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACGCCGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0	T:0.0002	ENSP00000369349	T:0	9/9	.	.	.	.	.	.	.	.	rs115355093	9/9	common_in_exac	ENST00000327741	Transcript	.	T:0.0070	ENSG00000205426	6458	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	T:0	tolerated(0.16)	.	KRT81_HUMAN	KRT81	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000DBEEF8	SNV	KRT81,missense_variant,p.Val485Met,ENST00000327741,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;	1522	64	65	SUCCESS
CALCOCO1	57658	.	GRCh37	12	54118936	54118936	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	101	0	ENST00000550804.1:c.91G>T	p.Glu31Ter	p.E31*	ENST00000550804		31	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8864.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCCACCT	NONE	.	.	hmmpanther:PTHR31915,Pfam_domain:PF07888,hmmpanther:PTHR31915:SF5	.	.	ENSP00000449960	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000550804	Transcript	.	.	ENSG00000012822	29306	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CACO1_HUMAN	CALCOCO1	HGNC	F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN	.	UPI0000037D7A	SNV	CALCOCO1,stop_gained,p.Glu31Ter,ENST00000549784,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000550804,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000546619,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000552623,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000430117,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000262059,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000549173,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000549688,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000548263,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000548177,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000551900,;CALCOCO1,stop_gained,p.Glu31Ter,ENST00000549349,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547885,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547949,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000553154,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000548431,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547988,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000546774,;	152	101	125	SUCCESS
CD9	928	.	GRCh37	12	6342629	6342629	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	87	0	ENST00000009180.4:c.325T>G	p.Trp109Gly	p.W109G	ENST00000009180	NM_001769.3	109	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS8540.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF163,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	.	.	ENSP00000371958	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000382518	Transcript	.	.	ENSG00000010278	1709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD9_HUMAN	CD9	HGNC	F5GXT1_HUMAN,B4DPP0_HUMAN,A6NNI4_HUMAN	.	UPI000003B45A	SNV	CD9,missense_variant,p.Trp40Gly,ENST00000382515,;CD9,missense_variant,p.Trp109Gly,ENST00000009180,;CD9,missense_variant,p.Trp109Gly,ENST00000382518,;CD9,missense_variant,p.Trp132Gly,ENST00000382519,;CD9,missense_variant,p.Trp109Gly,ENST00000536586,;Y_RNA,downstream_gene_variant,,ENST00000365448,;CD9,non_coding_transcript_exon_variant,,ENST00000538834,;CD9,non_coding_transcript_exon_variant,,ENST00000540891,;CD9,non_coding_transcript_exon_variant,,ENST00000481267,;CD9,downstream_gene_variant,,ENST00000543916,;CD9,downstream_gene_variant,,ENST00000546073,;	761	87	76	SUCCESS
CD4	920	.	GRCh37	12	6926465	6926465	+	synonymous_variant	Silent	SNP	G	G	C	rs782556070	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	66	0	ENST00000011653.4:c.1125G>C	p.Ser375=	p.S375=	ENST00000011653	NM_000616.4	375	tcG/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS8562.1	1125	MUTECT|MUSE|VARSCANS	.	GACTCGGGACA	NONE	byFrequency	.	Superfamily_domains:SSF48726,Pfam_domain:PF05790,Gene3D:2.60.40.10,hmmpanther:PTHR11422:SF0,hmmpanther:PTHR11422	.	.	ENSP00000011653	.	7/10	.	.	.	.	.	.	.	.	rs782556070	7/10	PASS	ENST00000011653	Transcript	.	.	ENSG00000010610	1678	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD4_HUMAN	CD4	HGNC	Q6LCP8_HUMAN,Q13969_HUMAN,F5GYA9_HUMAN,B4DT49_HUMAN	.	UPI0000001294	SNV	CD4,synonymous_variant,p.%3D,ENST00000011653,;CD4,downstream_gene_variant,,ENST00000541982,;GPR162,upstream_gene_variant,,ENST00000428545,;GPR162,upstream_gene_variant,,ENST00000382315,;GPR162,upstream_gene_variant,,ENST00000311268,;GPR162,upstream_gene_variant,,ENST00000541431,;CD4,downstream_gene_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,downstream_gene_variant,,ENST00000538827,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;GPR162,upstream_gene_variant,,ENST00000535220,;CD4,downstream_gene_variant,,ENST00000543755,;CD4,downstream_gene_variant,,ENST00000544344,;	1383	66	53	SUCCESS
MYO16	23026	.	GRCh37	13	109793226	109793226	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	36	62	0	ENST00000356711.2:c.4600G>A	p.Gly1534Arg	p.G1534R	ENST00000356711	NM_015011.1	1534	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS32008.1	4600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGGGTCG	NONE	.	.	Pfam_domain:PF15439	.	.	ENSP00000349145	.	32/35	.	.	.	.	.	.	.	.	.	32/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious_low_confidence(0)	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,missense_variant,p.Gly1534Arg,ENST00000356711,;MYO16,missense_variant,p.Gly1534Arg,ENST00000357550,;	4726	62	131	SUCCESS
MYCBP2	23077	.	GRCh37	13	77656079	77656079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	50	77	0	ENST00000357337.6:c.10972A>G	p.Ser3658Gly	p.S3658G	ENST00000357337		3658	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	.	10972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCTCTGAT	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846,Superfamily_domains:SSF49785	.	.	ENSP00000444596	.	64/83	.	.	.	.	.	.	.	.	.	64/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Ser82Gly,ENST00000429715,;MYCBP2,missense_variant,p.Ser3658Gly,ENST00000544440,;MYCBP2,missense_variant,p.Ser3658Gly,ENST00000357337,;MYCBP2,missense_variant,p.Ser3696Gly,ENST00000407578,;MYCBP2-AS1,intron_variant,,ENST00000422231,;MYCBP2-AS1,intron_variant,,ENST00000450627,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000448470,;MYCBP2-AS2,upstream_gene_variant,,ENST00000428716,;MYCBP2-AS1,downstream_gene_variant,,ENST00000596342,;	10990	77	112	SUCCESS
CHURC1	91612	.	GRCh37	14	65398946	65398946	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	102	0	ENST00000549115.1:c.418T>C	p.Ter140GlnextTer20	p.*140Qext*20	ENST00000549115		140	Taa/Caa	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS32101.2	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTAAGGA	NONE	.	.	.	.	.	ENSP00000475473	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000607599	Transcript	.	.	ENSG00000258289	20099	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHUR_HUMAN	CHURC1	HGNC	H0YIM9_HUMAN	.	UPI000059D262	SNV	CHURC1,stop_lost,p.Ter140GlnextTer20,ENST00000549115,;CHURC1,stop_lost,p.Ter113GlnextTer20,ENST00000552002,;CHURC1,stop_lost,p.Ter114GlnextTer20,ENST00000359118,;CHURC1,stop_lost,p.Ter141GlnextTer20,ENST00000607599,;CHURC1,3_prime_UTR_variant,,ENST00000548752,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1,intron_variant,,ENST00000551947,;CHURC1-FNTB,intron_variant,,ENST00000553743,;CHURC1,intron_variant,,ENST00000551093,;FNTB,intron_variant,,ENST00000542227,;CHURC1,downstream_gene_variant,,ENST00000547625,;CHURC1-FNTB,stop_lost,p.Ter86GlnextTer20,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;	475	102	116	SUCCESS
SEMA6D	80031	.	GRCh37	15	48056407	48056407	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	76	167	0	ENST00000316364.5:c.1002T>A	p.Asp334Glu	p.D334E	ENST00000316364	NM_153618.1	334	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS32225.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATGACAT	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	.	.	ENSP00000324857	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.68)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Asp334Glu,ENST00000389432,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000358066,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000389428,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000389425,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000355997,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000389433,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000558014,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000537942,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000354744,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000536845,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000558816,;SEMA6D,missense_variant,p.Asp334Glu,ENST00000316364,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,downstream_gene_variant,,ENST00000561106,;SEMA6D,upstream_gene_variant,,ENST00000558431,;	1441	167	94	SUCCESS
ACAN	176	.	GRCh37	15	89400397	89400397	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	36	60	0	ENST00000439576.2:c.4581G>A	p.Arg1527=	p.R1527=	ENST00000439576	NM_013227.3	1527	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS53970.1	4581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGCTCCC	NONE	.	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	.	.	ENSP00000387356	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,synonymous_variant,p.%3D,ENST00000559004,;ACAN,synonymous_variant,p.%3D,ENST00000439576,;ACAN,synonymous_variant,p.%3D,ENST00000561243,;ACAN,synonymous_variant,p.%3D,ENST00000352105,;ACAN,upstream_gene_variant,,ENST00000560601,;	4955	60	40	SUCCESS
ERN2	10595	.	GRCh37	16	23717746	23717746	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773229366	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	47	0	ENST00000256797.4:c.638C>T	p.Thr213Met	p.T213M	ENST00000256797	NM_033266.3	213	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS32407.1	638	MUTECT|MUSE	.	TGACCGTATAC	NONE	.	.	hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Gene3D:2.140.10.10,SMART_domains:SM00564,Superfamily_domains:SSF50998	.	.	ENSP00000256797	.	7/22	.	.	.	.	.	.	.	.	rs773229366	7/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.25)	.	tolerated(0.15)	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Thr165Met,ENST00000457008,;ERN2,missense_variant,p.Thr213Met,ENST00000256797,;ERN2,3_prime_UTR_variant,,ENST00000562562,;ERN2,non_coding_transcript_exon_variant,,ENST00000566565,;ERN2,downstream_gene_variant,,ENST00000569903,;ERN2,downstream_gene_variant,,ENST00000561478,;	807	47	54	SUCCESS
ZNF764	92595	.	GRCh37	16	30569410	30569410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	27	0	ENST00000252797.2:c.94G>T	p.Ala32Ser	p.A32S	ENST00000252797	NM_033410.3	32	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10683.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCCACGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF131,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000252797	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000252797	Transcript	.	.	ENSG00000169951	28200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	ZN764_HUMAN	ZNF764	HGNC	.	.	UPI000013CD86	SNV	ZNF764,missense_variant,p.Ala32Ser,ENST00000395091,;AC002310.13,missense_variant,p.Ala32Ser,ENST00000568114,;ZNF764,missense_variant,p.Ala32Ser,ENST00000252797,;ZNF764,non_coding_transcript_exon_variant,,ENST00000568333,;	175	27	18	SUCCESS
NAGS	162417	.	GRCh37	17	42083959	42083959	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	50	0	ENST00000293404.3:c.978C>T	p.Ser326=	p.S326=	ENST00000293404	NM_153006.2	326	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11473.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCACAAA	NONE	.	.	hmmpanther:PTHR23342:SF3,hmmpanther:PTHR23342,Gene3D:3.40.1160.10,PIRSF_domain:PIRSF036442,Superfamily_domains:SSF53633	.	.	ENSP00000293404	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000293404	Transcript	.	.	ENSG00000161653	17996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAGS_HUMAN	NAGS	HGNC	Q2NKP2_HUMAN	.	UPI000006E37E	SNV	NAGS,synonymous_variant,p.%3D,ENST00000589767,;NAGS,synonymous_variant,p.%3D,ENST00000293404,;PYY,upstream_gene_variant,,ENST00000360085,;TMEM101,downstream_gene_variant,,ENST00000589334,;TMEM101,downstream_gene_variant,,ENST00000542039,;TMEM101,downstream_gene_variant,,ENST00000206380,;NAGS,non_coding_transcript_exon_variant,,ENST00000592915,;	1096	50	53	SUCCESS
ITGA3	3675	.	GRCh37	17	48156884	48156884	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	59	0	ENST00000320031.8:c.2669T>C	p.Leu890Pro	p.L890P	ENST00000320031	NM_002204.2	890	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS11557.1	2669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTGGCTG	NONE	.	.	Superfamily_domains:SSF69179,Gene3D:1jv2A04,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75	.	.	ENSP00000007722	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000007722	Transcript	.	.	ENSG00000005884	6139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	ITA3_HUMAN	ITGA3	HGNC	Q86SW1_HUMAN	.	UPI0000140781	SNV	ITGA3,missense_variant,p.Leu890Pro,ENST00000320031,;ITGA3,missense_variant,p.Leu890Pro,ENST00000007722,;ITGA3,intron_variant,,ENST00000506827,;ITGA3,downstream_gene_variant,,ENST00000544892,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,downstream_gene_variant,,ENST00000507771,;ITGA3,downstream_gene_variant,,ENST00000506401,;ITGA3,downstream_gene_variant,,ENST00000510809,;ITGA3,upstream_gene_variant,,ENST00000504417,;ITGA3,downstream_gene_variant,,ENST00000505612,;ITGA3,downstream_gene_variant,,ENST00000515147,;	2669	59	59	SUCCESS
CACNG1	786	.	GRCh37	17	65040955	65040955	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs551549167	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	22	0	ENST00000226021.3:c.179G>A	p.Arg60His	p.R60H	ENST00000226021	NM_000727.3	60	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS11668.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGCATCC	NONE	by1000G	.	hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF1,Pfam_domain:PF13903	A:0	.	ENSP00000226021	A:0	1/4	.	.	.	.	.	.	.	.	rs551549167	1/4	PASS	ENST00000226021	Transcript	.	A:0.0002	ENSG00000108878	1405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	A:0.001	tolerated(0.19)	.	CCG1_HUMAN	CACNG1	HGNC	.	.	UPI00001272A9	SNV	CACNG1,missense_variant,p.Arg60His,ENST00000226021,;	250	22	26	SUCCESS
ZACN	353174	.	GRCh37	17	74075584	74075584	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	74	140	0	ENST00000334586.5:c.162C>A	p.Asn54Lys	p.N54K	ENST00000334586	NM_180990.3	54	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS11740.2	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAACAATGG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF398,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000334854	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000334586	Transcript	.	.	ENSG00000186919	29504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.53)	.	ZACN_HUMAN	ZACN	HGNC	.	.	UPI0000E5A0B8	SNV	ZACN,missense_variant,p.Asn54Lys,ENST00000392503,;ZACN,missense_variant,p.Asn54Lys,ENST00000334586,;EXOC7,downstream_gene_variant,,ENST00000589210,;EXOC7,downstream_gene_variant,,ENST00000357231,;EXOC7,downstream_gene_variant,,ENST00000332065,;GALR2,downstream_gene_variant,,ENST00000329003,;EXOC7,downstream_gene_variant,,ENST00000335146,;EXOC7,downstream_gene_variant,,ENST00000467929,;EXOC7,downstream_gene_variant,,ENST00000411744,;EXOC7,downstream_gene_variant,,ENST00000405575,;EXOC7,downstream_gene_variant,,ENST00000607838,;EXOC7,downstream_gene_variant,,ENST00000591724,;ZACN,missense_variant,p.Asn54Lys,ENST00000421794,;ZACN,missense_variant,p.Asn54Lys,ENST00000425015,;ZACN,non_coding_transcript_exon_variant,,ENST00000591500,;ZACN,non_coding_transcript_exon_variant,,ENST00000524242,;EXOC7,downstream_gene_variant,,ENST00000467586,;EXOC7,downstream_gene_variant,,ENST00000465252,;ZACN,upstream_gene_variant,,ENST00000590045,;	245	141	153	SUCCESS
CHMP6	79643	.	GRCh37	17	78968447	78968447	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	53	0	ENST00000325167.5:c.130G>T	p.Glu44Ter	p.E44*	ENST00000325167	NM_024591.4	44	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11774.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGAGCGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22761,Pfam_domain:PF03357	.	.	ENSP00000317468	.	2/8	.	.	.	.	.	.	.	.	COSM1522822	2/8	PASS	ENST00000325167	Transcript	.	.	ENSG00000176108	25675	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CHMP6_HUMAN	CHMP6	HGNC	I3L3E4_HUMAN	.	UPI000003E7D8	SNV	CHMP6,stop_gained,p.Glu23Ter,ENST00000572778,;CHMP6,stop_gained,p.Glu2Ter,ENST00000571457,;CHMP6,stop_gained,p.Glu44Ter,ENST00000325167,;CHMP6,5_prime_UTR_variant,,ENST00000572525,;CTD-2561B21.7,downstream_gene_variant,,ENST00000577061,;CTD-2561B21.7,downstream_gene_variant,,ENST00000576215,;	208	53	68	SUCCESS
FASN	2194	.	GRCh37	17	80045029	80045029	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	61	0	ENST00000306749.2:c.3324G>A	p.Glu1108=	p.E1108=	ENST00000306749	NM_004104.4	1108	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS11801.1	3324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCTCCTG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227	.	.	ENSP00000304592	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000579410,;	3543	61	51	SUCCESS
EMILIN2	84034	.	GRCh37	18	2909794	2909794	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	96	0	ENST00000254528.3:c.2801G>T	p.Gly934Val	p.G934V	ENST00000254528	NM_032048.2	934	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11828.1	2801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACGGGGATG	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	.	ENSP00000254528	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000254528	Transcript	.	.	ENSG00000132205	19881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EMIL2_HUMAN	EMILIN2	HGNC	.	.	UPI000013CE3E	SNV	EMILIN2,missense_variant,p.Gly934Val,ENST00000254528,;EMILIN2,non_coding_transcript_exon_variant,,ENST00000308080,;EMILIN2,non_coding_transcript_exon_variant,,ENST00000583776,;	2960	96	96	SUCCESS
MYO9B	4650	.	GRCh37	19	17291744	17291744	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1346303616	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	73	0	ENST00000594824.1:c.2228A>T	p.His743Leu	p.H743L	ENST00000594824		743	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS46010.1	2228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCATAACC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Pfam_domain:PF00063,SMART_domains:SM00242	.	.	ENSP00000471457	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	tolerated(0.08)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.His743Leu,ENST00000595641,;MYO9B,missense_variant,p.His743Leu,ENST00000397274,;MYO9B,missense_variant,p.His743Leu,ENST00000595618,;MYO9B,missense_variant,p.His743Leu,ENST00000594824,;MYO9B,intron_variant,,ENST00000602177,;MYO9B,intron_variant,,ENST00000594971,;CTD-3032J10.4,upstream_gene_variant,,ENST00000594678,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601749,;MYO9B,non_coding_transcript_exon_variant,,ENST00000598101,;MYO9B,upstream_gene_variant,,ENST00000601490,;MYO9B,upstream_gene_variant,,ENST00000598464,;	2380	73	76	SUCCESS
DOT1L	84444	.	GRCh37	19	2217014	2217014	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs562099241	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	64	0	ENST00000398665.3:c.2469G>T	p.Met823Ile	p.M823I	ENST00000398665	NM_032482.2	823	atG/atT	0	.	T:0	.	T:0	.	T	M/I	protein_coding	YES	CCDS42460.1	2469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATGAAGCT	NONE	by1000G	.	hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,PIRSF_domain:PIRSF037123	T:0.001	.	ENSP00000381657	T:0	21/28	.	.	.	.	.	.	.	.	rs562099241	21/28	PASS	ENST00000398665	Transcript	.	T:0.0002	ENSG00000104885	24948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.758)	T:0	tolerated_low_confidence(1)	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,missense_variant,p.Met823Ile,ENST00000398665,;DOT1L,downstream_gene_variant,,ENST00000586024,;AC004490.1,upstream_gene_variant,,ENST00000585593,;DOT1L,downstream_gene_variant,,ENST00000591498,;DOT1L,downstream_gene_variant,,ENST00000608122,;DOT1L,non_coding_transcript_exon_variant,,ENST00000482433,;DOT1L,downstream_gene_variant,,ENST00000472540,;	2505	64	46	SUCCESS
GPI	2821	.	GRCh37	19	34890537	34890537	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	52	134	0	ENST00000356487.5:c.1474+1G>T		p.X492_splice	ENST00000356487	NM_000175.3	492		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54246.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGGTGAGT	NONE	.	.	.	.	.	ENSP00000405573	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000415930	Transcript	1	.	ENSG00000105220	4458	.	.	HIGH	16/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G6PI_HUMAN	GPI	HGNC	K7EPY4_HUMAN,K7ERK8_HUMAN,K7ELR7_HUMAN,K7EIL4_HUMAN,B4DE36_HUMAN	.	UPI00017A6DE4	SNV	GPI,splice_donor_variant,,ENST00000415930,;GPI,splice_donor_variant,,ENST00000588991,;GPI,splice_donor_variant,,ENST00000356487,;RP11-618P17.4,intron_variant,,ENST00000592740,;GPI,intron_variant,,ENST00000586425,;RP11-618P17.4,upstream_gene_variant,,ENST00000606020,;PDCD2L,upstream_gene_variant,,ENST00000246535,;GPI,splice_donor_variant,,ENST00000586392,;GPI,non_coding_transcript_exon_variant,,ENST00000586077,;GPI,downstream_gene_variant,,ENST00000589985,;PDCD2L,upstream_gene_variant,,ENST00000587385,;	.	134	140	SUCCESS
DMKN	93099	.	GRCh37	19	35992755	35992755	+	intron_variant	Intron	SNP	G	G	A	rs1163746870	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	36	0	ENST00000339686.3:c.1239+283C>T		p.*413*	ENST00000339686	NM_033317.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12463.1	.	RADIA|MUTECT|MUSE	.	GCCAGGCCCAG	NONE	.	.	.	.	.	ENSP00000342012	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339686	Transcript	.	.	ENSG00000161249	25063	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DMKN_HUMAN	DMKN	HGNC	R4GMQ0_HUMAN	.	UPI00002020EB	SNV	DMKN,synonymous_variant,p.%3D,ENST00000601650,;DMKN,synonymous_variant,p.%3D,ENST00000593342,;DMKN,synonymous_variant,p.%3D,ENST00000408915,;DMKN,intron_variant,,ENST00000602679,;DMKN,intron_variant,,ENST00000434389,;DMKN,intron_variant,,ENST00000492341,;DMKN,intron_variant,,ENST00000602781,;DMKN,intron_variant,,ENST00000472252,;DMKN,intron_variant,,ENST00000419602,;DMKN,intron_variant,,ENST00000429837,;DMKN,intron_variant,,ENST00000467637,;DMKN,intron_variant,,ENST00000480502,;DMKN,intron_variant,,ENST00000443640,;DMKN,intron_variant,,ENST00000414866,;DMKN,intron_variant,,ENST00000402589,;DMKN,intron_variant,,ENST00000436012,;DMKN,intron_variant,,ENST00000339686,;DMKN,downstream_gene_variant,,ENST00000424570,;DMKN,downstream_gene_variant,,ENST00000418261,;DMKN,downstream_gene_variant,,ENST00000392206,;DMKN,downstream_gene_variant,,ENST00000447113,;DMKN,downstream_gene_variant,,ENST00000458071,;DMKN,downstream_gene_variant,,ENST00000474928,;DMKN,downstream_gene_variant,,ENST00000450261,;DMKN,downstream_gene_variant,,ENST00000461300,;DMKN,downstream_gene_variant,,ENST00000440396,;DMKN,downstream_gene_variant,,ENST00000451297,;DMKN,downstream_gene_variant,,ENST00000488892,;DMKN,intron_variant,,ENST00000462126,;DMKN,intron_variant,,ENST00000466587,;DMKN,downstream_gene_variant,,ENST00000474992,;DMKN,downstream_gene_variant,,ENST00000476051,;DMKN,intron_variant,,ENST00000486450,;DMKN,intron_variant,,ENST00000498211,;DMKN,intron_variant,,ENST00000498269,;DMKN,intron_variant,,ENST00000460051,;DMKN,intron_variant,,ENST00000464709,;DMKN,intron_variant,,ENST00000476246,;DMKN,intron_variant,,ENST00000463292,;DMKN,intron_variant,,ENST00000462721,;DMKN,intron_variant,,ENST00000464894,;DMKN,intron_variant,,ENST00000493979,;DMKN,intron_variant,,ENST00000597212,;DMKN,intron_variant,,ENST00000465927,;DMKN,intron_variant,,ENST00000488542,;DMKN,intron_variant,,ENST00000460327,;DMKN,intron_variant,,ENST00000482321,;DMKN,intron_variant,,ENST00000471786,;DMKN,intron_variant,,ENST00000490622,;DMKN,intron_variant,,ENST00000493517,;DMKN,intron_variant,,ENST00000498593,;DMKN,intron_variant,,ENST00000471017,;DMKN,intron_variant,,ENST00000467532,;DMKN,intron_variant,,ENST00000483855,;DMKN,intron_variant,,ENST00000488762,;DMKN,upstream_gene_variant,,ENST00000472365,;DMKN,upstream_gene_variant,,ENST00000469960,;DMKN,upstream_gene_variant,,ENST00000478648,;DMKN,upstream_gene_variant,,ENST00000601368,;DMKN,downstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000486756,;DMKN,downstream_gene_variant,,ENST00000480507,;DMKN,downstream_gene_variant,,ENST00000595571,;DMKN,upstream_gene_variant,,ENST00000470964,;DMKN,downstream_gene_variant,,ENST00000462538,;DMKN,downstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000484064,;	.	36	27	SUCCESS
PSG1	5669	.	GRCh37	19	43371844	43371844	+	intron_variant	Intron	SNP	A	A	T	rs776019002	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	60	118	0	ENST00000436291.2:c.1243+409T>A		p.*415*	ENST00000436291	NM_001184826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12612.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAAGTAAA	NONE	.	.	.	.	.	ENSP00000244296	.	5/5	.	.	.	.	.	.	.	.	rs776019002	5/5	PASS	ENST00000244296	Transcript	.	.	ENSG00000231924	9514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSG1_HUMAN	PSG1	HGNC	Q9UMI0_HUMAN,M0QY44_HUMAN	.	UPI0000001071	SNV	PSG1,3_prime_UTR_variant,,ENST00000244296,;PSG1,3_prime_UTR_variant,,ENST00000312439,;PSG1,intron_variant,,ENST00000595356,;PSG1,intron_variant,,ENST00000436291,;PSG1,intron_variant,,ENST00000595124,;PSG1,intron_variant,,ENST00000403380,;PSG1,downstream_gene_variant,,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,intron_variant,,ENST00000602039,;	1790	118	135	SUCCESS
ZNF221	7638	.	GRCh37	19	44471018	44471018	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	37	60	0	ENST00000587682.1:c.1364G>A	p.Cys455Tyr	p.C455Y	ENST00000587682		455	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS12633.1	1364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGTGGTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24388:SF3,hmmpanther:PTHR24388,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000251269	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000251269	Transcript	.	.	ENSG00000159905	13014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN221_HUMAN	ZNF221	HGNC	Q16646_HUMAN,K7EIT6_HUMAN	.	UPI000013CCF3	SNV	ZNF221,missense_variant,p.Cys455Tyr,ENST00000592350,;ZNF221,missense_variant,p.Cys455Tyr,ENST00000587682,;ZNF221,missense_variant,p.Cys455Tyr,ENST00000251269,;ZNF155,upstream_gene_variant,,ENST00000590411,;ZNF221,downstream_gene_variant,,ENST00000591168,;	1692	60	66	SUCCESS
ZNF584	201514	.	GRCh37	19	58928202	58928202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	41	0	ENST00000306910.4:c.317A>G	p.Glu106Gly	p.E106G	ENST00000306910	NM_173548.1	106	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12979.1	317	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGAGAGAG	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF39	.	.	ENSP00000306756	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000306910	Transcript	.	.	ENSG00000171574	27318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.17)	.	ZN584_HUMAN	ZNF584	HGNC	M0R0A3_HUMAN	.	UPI000007465A	SNV	ZNF584,missense_variant,p.Glu106Gly,ENST00000306910,;ZNF584,missense_variant,p.Glu61Gly,ENST00000593920,;ZNF584,missense_variant,p.Arg139Gly,ENST00000322834,;ZNF584,3_prime_UTR_variant,,ENST00000599238,;ZNF584,downstream_gene_variant,,ENST00000596281,;ZNF584,downstream_gene_variant,,ENST00000598901,;CTD-2619J13.16,upstream_gene_variant,,ENST00000596296,;ZNF584,non_coding_transcript_exon_variant,,ENST00000594993,;ZNF584,non_coding_transcript_exon_variant,,ENST00000596921,;ZNF584,non_coding_transcript_exon_variant,,ENST00000599145,;	840	41	42	SUCCESS
C3	718	.	GRCh37	19	6714382	6714382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	47	74	0	ENST00000245907.6:c.580G>A	p.Asp194Asn	p.D194N	ENST00000245907	NM_000064.2	194	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32883.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCCCAAG	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF01835	.	.	ENSP00000245907	.	5/41	.	.	.	.	.	.	.	.	.	5/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Asp194Asn,ENST00000245907,;C3,downstream_gene_variant,,ENST00000600744,;C3,upstream_gene_variant,,ENST00000594270,;C3,upstream_gene_variant,,ENST00000597442,;C3,upstream_gene_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000595577,;	673	74	84	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	73	1	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	RADIA|MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	74	65	SUCCESS
NBPF12	149013	.	GRCh37	1	146400238	146400238	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	92	88	0	ENST00000442909.2:c.714A>C	p.Ser238=	p.S238=	ENST00000442909		238	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	.	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCAACTGT	NONE	.	.	PROSITE_profiles:PS51316,Pfam_domain:PF06758	.	.	ENSP00000391116	.	9/82	.	.	.	.	.	.	.	.	.	9/82	PASS	ENST00000442909	Transcript	.	.	ENSG00000186275	24297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBPFC_HUMAN	NBPF12	HGNC	S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN,F8WEX1_HUMAN,F5GXN6_HUMAN	.	UPI0001B798CE	SNV	NBPF12,synonymous_variant,p.%3D,ENST00000442909,;NBPF12,intron_variant,,ENST00000309471,;NBPF12,intron_variant,,ENST00000446760,;NBPF12,upstream_gene_variant,,ENST00000439206,;	1550	88	101	SUCCESS
TMOD4	29765	.	GRCh37	1	151143906	151143906	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	46	92	0	ENST00000295314.4:c.726+3A>G		p.X242_splice	ENST00000295314	NM_013353.2	242		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS988.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTTACATT	NONE	.	.	.	.	.	ENSP00000295314	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295314	Transcript	.	.	ENSG00000163157	11874	.	.	LOW	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMOD4_HUMAN	TMOD4	HGNC	Q5JR82_HUMAN	.	UPI00000015C0	SNV	TMOD4,splice_region_variant,,ENST00000295314,;TMOD4,splice_region_variant,,ENST00000416280,;TMOD4,intron_variant,,ENST00000466891,;TMOD4,downstream_gene_variant,,ENST00000441701,;SCNM1,downstream_gene_variant,,ENST00000368905,;SCNM1,downstream_gene_variant,,ENST00000602841,;VPS72,downstream_gene_variant,,ENST00000368892,;SCNM1,downstream_gene_variant,,ENST00000368902,;TMOD4,downstream_gene_variant,,ENST00000601585,;SCNM1,downstream_gene_variant,,ENST00000471039,;SCNM1,downstream_gene_variant,,ENST00000497147,;TMOD4,downstream_gene_variant,,ENST00000488488,;SCNM1,downstream_gene_variant,,ENST00000461862,;SCNM1,downstream_gene_variant,,ENST00000459799,;VPS72,splice_region_variant,,ENST00000491094,;TMOD4,splice_region_variant,,ENST00000463543,;	.	92	83	SUCCESS
CD1A	909	.	GRCh37	1	158225121	158225121	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	50	0	ENST00000289429.5:c.306C>A	p.Ala102=	p.A102=	ENST00000289429	NM_001763.2	102	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1174.1	306	MUTECT|MUSE	.	TACGCCCATGA	NONE	.	.	Superfamily_domains:SSF54452,Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675:SF160,hmmpanther:PTHR16675	.	.	ENSP00000289429	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000289429	Transcript	.	.	ENSG00000158477	1634	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1A_HUMAN	CD1A	HGNC	.	.	UPI0000161A54	SNV	CD1A,synonymous_variant,p.%3D,ENST00000289429,;	839	50	65	SUCCESS
FCGR2A	2212	.	GRCh37	1	161475295	161475295	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	54	0	ENST00000271450.6:c.38C>T	p.Pro13Leu	p.P13L	ENST00000271450	NM_021642.3	13	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44264.1	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCCCAGAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000271450	.	1/7	.	.	.	.	.	.	.	.	COSM898557	1/7	PASS	ENST00000271450	Transcript	.	.	ENSG00000143226	3616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.354)	.	tolerated(0.05)	1	FCG2A_HUMAN	FCGR2A	HGNC	F5H137_HUMAN,F5GY95_HUMAN	.	UPI000013D8DE	SNV	FCGR2A,missense_variant,p.Pro13Leu,ENST00000367972,;FCGR2A,missense_variant,p.Pro13Leu,ENST00000271450,;FCGR2A,upstream_gene_variant,,ENST00000471026,;FCGR2A,missense_variant,p.Pro13Leu,ENST00000483665,;FCGR2A,missense_variant,p.Pro13Leu,ENST00000536731,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000473080,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000467654,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000497474,;FCGR2A,upstream_gene_variant,,ENST00000482233,;FCGR2A,upstream_gene_variant,,ENST00000467525,;	76	54	80	SUCCESS
FCGR3B	2215	.	GRCh37	1	161595991	161595991	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	91	117	0	ENST00000294800.3:c.521G>A	p.Gly174Glu	p.G174E	ENST00000294800	NM_001271035.1	174	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS58040.1	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCCCCTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14	.	.	ENSP00000433642	.	4/5	.	.	.	.	.	.	.	.	COSM3477298	4/5	PASS	ENST00000531221	Transcript	.	.	ENSG00000162747	3620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	.	FCGR3B	HGNC	M9MML6_HUMAN,E9PNY5_HUMAN	.	UPI000066D8C5	SNV	FCGR3B,missense_variant,p.Gly195Glu,ENST00000421702,;FCGR3B,missense_variant,p.Gly210Glu,ENST00000531221,;FCGR3B,missense_variant,p.Gly174Glu,ENST00000367964,;FCGR3B,missense_variant,p.Gly174Glu,ENST00000294800,;FCGR2B,intron_variant,,ENST00000403078,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000428605,;FCGR2B,intron_variant,,ENST00000367962,;FCGR3A,intron_variant,,ENST00000540048,;FCGR3B,downstream_gene_variant,,ENST00000534776,;FCGR3B,downstream_gene_variant,,ENST00000533780,;FCGR3B,downstream_gene_variant,,ENST00000534489,;	633	117	167	SUCCESS
ATP2B4	493	.	GRCh37	1	203683382	203683382	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	38	0	ENST00000357681.5:c.2383A>C	p.Lys795Gln	p.K795Q	ENST00000357681	NM_001684.4	795	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS1440.1	2383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAAAGCG	NONE	.	.	hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,Superfamily_domains:SSF56784,Prints_domain:PR00119	.	.	ENSP00000350310	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Lys795Gln,ENST00000341360,;ATP2B4,missense_variant,p.Lys795Gln,ENST00000367218,;ATP2B4,missense_variant,p.Lys795Gln,ENST00000391954,;ATP2B4,missense_variant,p.Lys783Gln,ENST00000367219,;ATP2B4,missense_variant,p.Lys795Gln,ENST00000357681,;	3506	38	51	SUCCESS
LYST	1130	.	GRCh37	1	235915327	235915327	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	49	82	0	ENST00000389793.2:c.7605T>C	p.Asn2535=	p.N2535=	ENST00000389793	NM_000081.3	2535	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS31062.1	7605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTATTTTG	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	27/53	.	.	.	.	.	.	.	.	.	27/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000487530,;LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;	7780	82	87	SUCCESS
KIF16B	55614	.	GRCh37	20	16387061	16387061	+	synonymous_variant	Silent	SNP	A	A	G	rs1568943561	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	55	93	0	ENST00000354981.2:c.1653T>C	p.Phe551=	p.F551=	ENST00000354981	NM_024704.4	551	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS56178.1	1653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTAAAGCG	NONE	.	.	hmmpanther:PTHR24115:SF400,hmmpanther:PTHR24115,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000384164	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000408042	Transcript	.	.	ENSG00000089177	15869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI16B_HUMAN	KIF16B	HGNC	.	.	UPI00003BF77C	SNV	KIF16B,synonymous_variant,p.%3D,ENST00000408042,;KIF16B,synonymous_variant,p.%3D,ENST00000354981,;KIF16B,synonymous_variant,p.%3D,ENST00000355755,;KIF16B,5_prime_UTR_variant,,ENST00000378003,;KIF16B,upstream_gene_variant,,ENST00000450176,;AL118509.1,downstream_gene_variant,,ENST00000408521,;	1811	93	108	SUCCESS
EDEM2	55741	.	GRCh37	20	33703635	33703635	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	56	137	0	ENST00000374492.3:c.1338C>G	p.Phe446Leu	p.F446L	ENST00000374492	NM_018217.2	446	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS13247.1	1338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGAAGTT	NONE	.	.	Prints_domain:PR00747,Superfamily_domains:SSF48225,Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26	.	.	ENSP00000363616	.	11/11	.	.	.	.	.	.	.	.	COSM362943	11/11	PASS	ENST00000374492	Transcript	.	.	ENSG00000088298	15877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.941)	.	tolerated(0.36)	1	EDEM2_HUMAN	EDEM2	HGNC	B4E1F4_HUMAN	.	UPI00001285D9	SNV	EDEM2,missense_variant,p.Phe409Leu,ENST00000374491,;EDEM2,missense_variant,p.Phe446Leu,ENST00000374492,;EDEM2,missense_variant,p.Phe225Leu,ENST00000541621,;EDEM2,missense_variant,p.Phe170Leu,ENST00000542871,;EDEM2,downstream_gene_variant,,ENST00000540582,;SNORD56,downstream_gene_variant,,ENST00000364281,;	1444	137	137	SUCCESS
SCAND1	51282	.	GRCh37	20	34541998	34541998	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	19	0	ENST00000305978.2:c.209C>T	p.Ala70Val	p.A70V	ENST00000305978	NM_033630.2	70	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13269.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10032:SF189,hmmpanther:PTHR10032	.	.	ENSP00000363103	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373991	Transcript	.	.	ENSG00000171222	10566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.08)	.	SCND1_HUMAN	SCAND1	HGNC	Q9NZG6_HUMAN,H0UIA5_HUMAN	.	UPI0000000C19	SNV	SCAND1,missense_variant,p.Ala70Val,ENST00000305978,;SCAND1,missense_variant,p.Ala70Val,ENST00000373991,;PHF20,downstream_gene_variant,,ENST00000439301,;PHF20,downstream_gene_variant,,ENST00000374012,;	1280	19	18	SUCCESS
KCNQ2	3785	.	GRCh37	20	62076074	62076074	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs796052626	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	54	0	ENST00000359125.2:c.628C>T	p.Arg210Cys	p.R210C	ENST00000359125	NM_172107.2	210	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13520.1	628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGGATCA	NONE	.	.	hmmpanther:PTHR11537:SF6,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000352035	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000359125	Transcript	1	.	ENSG00000075043	6296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	KCNQ2_HUMAN	KCNQ2	HGNC	.	.	UPI00001279ED	SNV	KCNQ2,missense_variant,p.Arg210Cys,ENST00000359689,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000354587,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000360480,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000359125,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000344425,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000370224,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000357249,;KCNQ2,missense_variant,p.Arg210Cys,ENST00000344462,;RP11-358D14.2,upstream_gene_variant,,ENST00000436263,;KCNQ2,non_coding_transcript_exon_variant,,ENST00000370221,;	803	54	53	SUCCESS
YWHAH	7533	.	GRCh37	22	32352465	32352465	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs145603750	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	69	1	ENST00000248975.5:c.427A>C	p.Lys143Gln	p.K143Q	ENST00000248975	NM_003405.3	143	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS13901.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAAAAAC	NONE	.	.	Superfamily_domains:SSF48445,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Pfam_domain:PF00244,Gene3D:3iquA00,hmmpanther:PTHR18860	.	.	ENSP00000248975	.	2/2	.	.	.	.	.	.	.	.	rs145603750	2/2	PASS	ENST00000248975	Transcript	.	.	ENSG00000128245	12853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	deleterious_low_confidence(0)	.	1433F_HUMAN	YWHAH	HGNC	Q9H4N8_HUMAN	.	UPI000013CC64	SNV	YWHAH,missense_variant,p.Lys130Gln,ENST00000420430,;YWHAH,missense_variant,p.Lys143Gln,ENST00000248975,;YWHAH,3_prime_UTR_variant,,ENST00000397492,;snoU13,downstream_gene_variant,,ENST00000459049,;YWHAH,non_coding_transcript_exon_variant,,ENST00000479649,;YWHAH,non_coding_transcript_exon_variant,,ENST00000471374,;YWHAH,3_prime_UTR_variant,,ENST00000443669,;	700	70	23	SUCCESS
RANBP2	5903	.	GRCh37	2	109380985	109380985	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	40	93	0	ENST00000283195.6:c.3990T>C	p.Asp1330=	p.D1330=	ENST00000283195	NM_006267.4	1330	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS2079.1	3990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATAACAA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,synonymous_variant,p.%3D,ENST00000283195,;	4116	93	43	SUCCESS
SCN1A	6323	.	GRCh37	2	166897863	166897863	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767074099	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	26	83	0	ENST00000303395.4:c.2293G>T	p.Val765Leu	p.V765L	ENST00000303395		765	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS54413.1	2293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACAACCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Gene3D:1.20.120.350	.	.	ENSP00000303540	.	13/26	.	.	.	.	.	.	.	.	rs767074099,COSM3406995,COSM3406994,COSM3406996	13/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1,1,1	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Val765Leu,ENST00000303395,;SCN1A,missense_variant,p.Val754Leu,ENST00000375405,;SCN1A,missense_variant,p.Val765Leu,ENST00000423058,;SCN1A,missense_variant,p.Val737Leu,ENST00000409050,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000595268,;AC010127.3,downstream_gene_variant,,ENST00000597623,;	2293	83	32	SUCCESS
PRKAG3	53632	.	GRCh37	2	219688557	219688557	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs781471980	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	30	0	ENST00000233944.3:c.1398C>T	p.Gly466=	p.G466=	ENST00000233944		466	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2424.1	1398	RADIA|MUTECT|MUSE	.	ACCACGCCCAA	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR13780:SF31,hmmpanther:PTHR13780,Pfam_domain:PF00571,Gene3D:3.10.580.10,SMART_domains:SM00116,Superfamily_domains:SSF54631	.	.	ENSP00000436068	.	13/13	.	.	.	.	.	.	.	.	rs781471980	13/13	PASS	ENST00000529249	Transcript	.	.	ENSG00000115592	9387	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AAKG3_HUMAN	PRKAG3	HGNC	B4DT70_HUMAN	.	UPI0000043D98	SNV	PRKAG3,synonymous_variant,p.%3D,ENST00000545803,;PRKAG3,synonymous_variant,p.%3D,ENST00000439262,;PRKAG3,synonymous_variant,p.%3D,ENST00000529249,;PRKAG3,downstream_gene_variant,,ENST00000392098,;RP11-459I19.1,downstream_gene_variant,,ENST00000608881,;PRKAG3,synonymous_variant,p.%3D,ENST00000233944,;PRKAG3,downstream_gene_variant,,ENST00000490971,;PRKAG3,downstream_gene_variant,,ENST00000470307,;	1714	30	11	SUCCESS
PASK	23178	.	GRCh37	2	242075390	242075390	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	27	74	0	ENST00000234040.4:c.1202A>G	p.Gln401Arg	p.Q401R	ENST00000234040	NM_001252119.1	401	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS58759.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGTAAT	NONE	.	.	hmmpanther:PTHR22971:SF2,hmmpanther:PTHR22971,SMART_domains:SM00091	.	.	ENSP00000351475	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000358649	Transcript	.	.	ENSG00000115687	17270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.18)	.	PASK_HUMAN	PASK	HGNC	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN	.	UPI0000456F4C	SNV	PASK,missense_variant,p.Gln401Arg,ENST00000405260,;PASK,missense_variant,p.Gln401Arg,ENST00000358649,;PASK,missense_variant,p.Gln401Arg,ENST00000403638,;PASK,missense_variant,p.Gln215Arg,ENST00000544142,;PASK,missense_variant,p.Gln185Arg,ENST00000539818,;PASK,missense_variant,p.Gln401Arg,ENST00000234040,;PASK,downstream_gene_variant,,ENST00000415234,;PASK,downstream_gene_variant,,ENST00000452907,;PASK,downstream_gene_variant,,ENST00000433589,;PASK,3_prime_UTR_variant,,ENST00000437780,;PASK,upstream_gene_variant,,ENST00000493544,;PASK,downstream_gene_variant,,ENST00000485940,;	1266	74	32	SUCCESS
YIPF4	84272	.	GRCh37	2	32503205	32503205	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs765199369	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	24	58	0	ENST00000238831.4:c.-20C>G		p.*7*	ENST00000238831	NM_032312.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1781.1	.	MUTECT|MUSE|VARSCANS	.	GCGGCCGGTTG	NONE	.	.	.	.	.	ENSP00000238831	.	1/6	.	.	.	.	.	.	.	.	rs765199369	1/6	PASS	ENST00000238831	Transcript	.	.	ENSG00000119820	28145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	YIPF4_HUMAN	YIPF4	HGNC	.	.	UPI0000073BBE	SNV	YIPF4,5_prime_UTR_variant,,ENST00000238831,;YIPF4,non_coding_transcript_exon_variant,,ENST00000495355,;YIPF4,upstream_gene_variant,,ENST00000437765,;	227	58	113	SUCCESS
SOS1	6654	.	GRCh37	2	39278406	39278406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775052125	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	78	94	0	ENST00000402219.2:c.743G>A	p.Arg248His	p.R248H	ENST00000402219	NM_005633.3	248	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS1802.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGCGACTA	NONE	byFrequency	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Gene3D:1.20.900.10,Pfam_domain:PF00621,hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113,PROSITE_profiles:PS50010	.	.	ENSP00000387784	.	7/24	.	.	.	.	.	.	.	.	rs775052125	7/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Arg248His,ENST00000395038,;SOS1,missense_variant,p.Arg248His,ENST00000426016,;SOS1,missense_variant,p.Arg248His,ENST00000402219,;SOS1,missense_variant,p.Arg191His,ENST00000428721,;SOS1,non_coding_transcript_exon_variant,,ENST00000461545,;	830	94	85	SUCCESS
ALMS1	7840	.	GRCh37	2	73676478	73676478	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	86	174	0	ENST00000264448.6:c.2821G>A	p.Ala941Thr	p.A941T	ENST00000264448	NM_015120.4	941	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS42697.1	2821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGCCCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Ala941Thr,ENST00000377715,;ALMS1,missense_variant,p.Ala899Thr,ENST00000409009,;ALMS1,missense_variant,p.Ala941Thr,ENST00000264448,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;	2932	174	236	SUCCESS
TACR1	6869	.	GRCh37	2	75276831	75276831	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	35	0	ENST00000305249.5:c.952C>A	p.His318Asn	p.H318N	ENST00000305249	NM_001058.3	318	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS1958.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATGCTTGA	NONE	.	.	hmmpanther:PTHR24242:SF14,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00244	.	.	ENSP00000303522	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000305249	Transcript	.	.	ENSG00000115353	11526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.38)	.	tolerated(0.2)	.	NK1R_HUMAN	TACR1	HGNC	Q53TR1_HUMAN,Q53TQ2_HUMAN	.	UPI0000039D68	SNV	TACR1,missense_variant,p.His318Asn,ENST00000305249,;TACR1,downstream_gene_variant,,ENST00000409848,;	1718	35	43	SUCCESS
FUNDC2P2	388965	.	GRCh37	2	84518059	84518059	+	non_coding_transcript_exon_variant	RNA	DEL	A	A	-	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	32	69	0	ENST00000538499.1:n.254del		p.*85*	ENST00000538499				0	.	.	.	.	.	-	.	transcribed_processed_pseudogene	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTCAGCCGA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000538499	Transcript	.	.	ENSG00000182814	17247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FUNDC2P2	HGNC	.	.	.	deletion	FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000331369,;FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000538499,;FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000443452,;	254	69	154	SUCCESS
ATP2C1	27032	.	GRCh37	3	130718491	130718491	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	6	86	0	ENST00000428331.2:c.2617C>G	p.Leu873Val	p.L873V	ENST00000428331	NM_014382.3	873	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS56278.1	2719	MUTECT|MUSE	.	AGAGCCTAAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:0049473,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01522,Gene3D:1.20.1110.10,hmmpanther:PTHR24093:SF214,hmmpanther:PTHR24093	.	.	ENSP00000376914	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000393221	Transcript	.	.	ENSG00000017260	13211	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	AT2C1_HUMAN	ATP2C1	HGNC	D6RGE9_HUMAN,D6R9U9_HUMAN	.	UPI0000EE224C	SNV	ATP2C1,missense_variant,p.Leu868Val,ENST00000533801,;ATP2C1,missense_variant,p.Leu873Val,ENST00000328560,;ATP2C1,missense_variant,p.Leu873Val,ENST00000508532,;ATP2C1,missense_variant,p.Leu857Val,ENST00000505330,;ATP2C1,missense_variant,p.Leu827Val,ENST00000504612,;ATP2C1,missense_variant,p.Leu873Val,ENST00000359644,;ATP2C1,missense_variant,p.Leu857Val,ENST00000504948,;ATP2C1,missense_variant,p.Leu857Val,ENST00000507488,;ATP2C1,missense_variant,p.Leu907Val,ENST00000393221,;ATP2C1,missense_variant,p.Leu873Val,ENST00000422190,;ATP2C1,missense_variant,p.Leu873Val,ENST00000428331,;ATP2C1,missense_variant,p.Leu857Val,ENST00000513801,;ATP2C1,missense_variant,p.Leu818Val,ENST00000504381,;ATP2C1,missense_variant,p.Leu873Val,ENST00000510168,;ATP2C1,downstream_gene_variant,,ENST00000508660,;ATP2C1,3_prime_UTR_variant,,ENST00000507194,;ATP2C1,non_coding_transcript_exon_variant,,ENST00000514654,;ATP2C1,downstream_gene_variant,,ENST00000510774,;	2934	86	85	SUCCESS
BCL6	604	.	GRCh37	3	187447680	187447680	+	synonymous_variant	Silent	SNP	G	G	A	rs751896144	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	30	64	0	ENST00000232014.4:c.513C>T	p.Ser171=	p.S171=	ENST00000232014	NM_001130845.1	171	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3289.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCTCCT	NONE	byFrequency	.	hmmpanther:PTHR23228:SF88,hmmpanther:PTHR23228	.	.	ENSP00000384371	.	5/10	.	.	.	.	.	.	.	.	rs751896144	5/10	PASS	ENST00000406870	Transcript	.	.	ENSG00000113916	1001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL6_HUMAN	BCL6	HGNC	C9JL16_HUMAN,C9JCS5_HUMAN	.	UPI000012682C	SNV	BCL6,synonymous_variant,p.%3D,ENST00000232014,;BCL6,synonymous_variant,p.%3D,ENST00000450123,;BCL6,synonymous_variant,p.%3D,ENST00000406870,;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,downstream_gene_variant,,ENST00000430339,;BCL6,downstream_gene_variant,,ENST00000438077,;BCL6,downstream_gene_variant,,ENST00000480458,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;BCL6,upstream_gene_variant,,ENST00000479110,;	880	64	32	SUCCESS
TMEM42	131616	.	GRCh37	3	44906567	44906567	+	synonymous_variant	Silent	SNP	G	G	A	rs376440839	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	58	148	0	ENST00000302392.4:c.375G>A	p.Gln125=	p.Q125=	ENST00000302392	NM_144638.1	125	caG/caA	0	A:0.0002	.	.	.	.	A	Q	protein_coding	YES	CCDS2722.1	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGAGGT	NONE	byCluster	.	hmmpanther:PTHR31965:SF1,hmmpanther:PTHR31965,Superfamily_domains:0043518	.	A:0	ENSP00000306564	.	3/3	.	.	.	.	.	.	.	.	rs376440839	3/3	PASS	ENST00000302392	Transcript	.	.	ENSG00000169964	28444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM42_HUMAN	TMEM42	HGNC	.	.	UPI00000702DF	SNV	TMEM42,synonymous_variant,p.%3D,ENST00000302392,;MIR564,downstream_gene_variant,,ENST00000385049,;TMEM42,non_coding_transcript_exon_variant,,ENST00000477126,;KIF15,intron_variant,,ENST00000422209,;	431	148	119	SUCCESS
CCR2	729230	.	GRCh37	3	46399400	46399400	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	79	169	0	ENST00000292301.4:c.382A>G	p.Ile128Val	p.I128V	ENST00000292301	NM_001123041.2	128	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43078.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAATCTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00657,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF73,PROSITE_profiles:PS50262	.	.	ENSP00000292301	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000292301	Transcript	.	.	ENSG00000121807	1603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.05)	.	CCR2_HUMAN	CCR2	HGNC	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN	.	UPI0000043585	SNV	CCR2,missense_variant,p.Ile128Val,ENST00000400888,;CCR2,missense_variant,p.Ile128Val,ENST00000292301,;CCR2,missense_variant,p.Ile128Val,ENST00000445132,;CCR2,downstream_gene_variant,,ENST00000421659,;CCR2,intron_variant,,ENST00000465202,;	867	169	171	SUCCESS
GPX1	2876	.	GRCh37	3	49395602	49395602	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	76	0	ENST00000419783.1:c.110G>A	p.Gly37Asp	p.G37D	ENST00000419783	NM_000581.2	37	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS43091.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCCCGC	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000303,Gene3D:3.40.30.10,Pfam_domain:PF00255,PROSITE_patterns:PS00460,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF24,PROSITE_profiles:PS51355	.	.	ENSP00000407375	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000419783	Transcript	.	.	ENSG00000233276	4553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	tolerated(0.12)	.	GPX1_HUMAN	GPX1	HGNC	Q7L4Q3_HUMAN	.	UPI00001B07C3	SNV	GPX1,missense_variant,p.Gly37Asp,ENST00000419349,;GPX1,missense_variant,p.Gly37Asp,ENST00000419783,;RHOA,downstream_gene_variant,,ENST00000422781,;RHOA,downstream_gene_variant,,ENST00000454011,;RHOA,downstream_gene_variant,,ENST00000445425,;RHOA,downstream_gene_variant,,ENST00000418115,;GPX1,non_coding_transcript_exon_variant,,ENST00000496791,;	432	76	73	SUCCESS
GRIA2	2891	.	GRCh37	4	158256937	158256937	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	54	126	0	ENST00000264426.9:c.1381T>A	p.Tyr461Asn	p.Y461N	ENST00000264426	NM_001083619.1	461	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS3797.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTACAAG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.190.10,Pfam_domain:PF10613,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850,Prints_domain:PR00177	.	.	ENSP00000296526	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Tyr414Asn,ENST00000393815,;GRIA2,missense_variant,p.Tyr461Asn,ENST00000296526,;GRIA2,missense_variant,p.Tyr461Asn,ENST00000264426,;GRIA2,missense_variant,p.Tyr414Asn,ENST00000507898,;GRIA2,missense_variant,p.Tyr414Asn,ENST00000449365,;GRIA2,missense_variant,p.Tyr414Asn,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	1706	126	62	SUCCESS
Z95704.2	0	.	GRCh37	4	87139	87139	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs369572114	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	117	0	ENST00000380882.5:n.1517A>G		p.*506*	ENST00000380882				0	G:0.0002	.	.	.	.	G	.	pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACATAAGA	NONE	byFrequency|byCluster	.	.	.	G:0.0001	.	.	2/3	.	.	.	.	.	.	.	.	rs369572114	2/3	PASS	ENST00000380882	Transcript	.	.	ENSG00000255436	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	Z95704.2	Clone_based_ensembl_gene	.	.	.	SNV	ZNF595,non_coding_transcript_exon_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;Z95704.2,non_coding_transcript_exon_variant,,ENST00000380882,;	1517	117	96	SUCCESS
MAN2A1	4124	.	GRCh37	5	109178033	109178033	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1416340913	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	121	282	0	ENST00000261483.4:c.2571A>G	p.Ile857Met	p.I857M	ENST00000261483	NM_002372.2	857	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS34209.1	2571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATAGAAGG	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:2.70.98.30,Pfam_domain:PF07748,Superfamily_domains:SSF74650	.	.	ENSP00000261483	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	deleterious(0.03)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Ile857Met,ENST00000261483,;CTC-287O8.1,upstream_gene_variant,,ENST00000510014,;	3623	282	271	SUCCESS
SMAD5	4090	.	GRCh37	5	135510151	135510151	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	115	0	ENST00000545279.1:c.1084T>C	p.Phe362Leu	p.F362L	ENST00000545279	NM_001001419.1	362	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	.	1084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTTTCAT	NONE	.	.	PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF36,Gene3D:2.60.200.10,Pfam_domain:PF03166,SMART_domains:SM00524,Superfamily_domains:SSF49879	.	.	ENSP00000441954	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000545279	Transcript	.	.	ENSG00000113658	6771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.53)	.	SMAD5_HUMAN	SMAD5	HGNC	Q68DB7_HUMAN,F5GWU7_HUMAN,D6RIZ9_HUMAN,D6RBB4_HUMAN,D6R9D4_HUMAN	.	UPI000013C952	SNV	SMAD5,missense_variant,p.Phe362Leu,ENST00000545620,;SMAD5,missense_variant,p.Phe362Leu,ENST00000545279,;SMAD5,downstream_gene_variant,,ENST00000507637,;SMAD5,non_coding_transcript_exon_variant,,ENST00000514777,;SMAD5,non_coding_transcript_exon_variant,,ENST00000514641,;SMAD5,upstream_gene_variant,,ENST00000513418,;	1444	115	110	SUCCESS
DNAH5	1767	.	GRCh37	5	13913898	13913898	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769654757	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	54	93	0	ENST00000265104.4:c.1490A>G	p.Gln497Arg	p.Q497R	ENST00000265104	NM_001369.2	497	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3882.1	1490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTGCAGG	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	11/79	.	.	.	.	.	.	.	.	rs769654757	11/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Gln497Arg,ENST00000265104,;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;	1595	93	104	SUCCESS
SPINK6	404203	.	GRCh37	5	147593575	147593575	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	55	0	ENST00000325630.2:c.184T>C	p.Cys62Arg	p.C62R	ENST00000325630	NM_205841.3	62	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS34268.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGTAAG	NONE	.	.	Superfamily_domains:SSF100895,SMART_domains:SM00280,Gene3D:1.10.1890.10,Pfam_domain:PF00050,PROSITE_patterns:PS00282,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF42,PROSITE_profiles:PS51465	.	.	ENSP00000324870	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000325630	Transcript	.	.	ENSG00000178172	29486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ISK6_HUMAN	SPINK6	HGNC	D6RGX9_HUMAN	.	UPI000004BA6C	SNV	SPINK6,missense_variant,p.Cys62Arg,ENST00000325630,;SPINK6,downstream_gene_variant,,ENST00000514389,;	440	55	65	SUCCESS
C9	735	.	GRCh37	5	39308341	39308341	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	107	302	0	ENST00000263408.4:c.1231G>A	p.Gly411Ser	p.G411S	ENST00000263408	NM_001737.3	411	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3929.1	1231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACCCTCTC	NONE	.	.	SMART_domains:SM00457,Pfam_domain:PF01823,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF333,PROSITE_profiles:PS51412	.	.	ENSP00000263408	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000263408	Transcript	1	.	ENSG00000113600	1358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	tolerated(0.23)	.	CO9_HUMAN	C9	HGNC	Q9UGI4_HUMAN	.	UPI0000001065	SNV	C9,missense_variant,p.Gly411Ser,ENST00000263408,;	1327	302	263	SUCCESS
C5orf34	375444	.	GRCh37	5	43492341	43492341	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs145050535	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	162	381	0	ENST00000306862.2:c.1556T>C	p.Ile519Thr	p.I519T	ENST00000306862	NM_198566.2	519	aTt/aCt	0	G:0	.	.	.	.	G	I/T	protein_coding	YES	CCDS3946.1	1556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAATCTGA	NONE	byCluster	.	Pfam_domain:PF15016	.	G:0.0001	ENSP00000303490	.	10/13	.	.	.	.	.	.	.	.	rs145050535,COSM1068431	10/13	PASS	ENST00000306862	Transcript	.	.	ENSG00000172244	24738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(0.12)	0,1	CE034_HUMAN	C5orf34	HGNC	E9PBC3_HUMAN,B4E0D7_HUMAN	.	UPI000013EB9E	SNV	C5orf34,missense_variant,p.Ile519Thr,ENST00000306862,;RP11-159F24.3,intron_variant,,ENST00000505645,;C5orf34,non_coding_transcript_exon_variant,,ENST00000506213,;RP11-159F24.3,downstream_gene_variant,,ENST00000504469,;C5orf34,downstream_gene_variant,,ENST00000503655,;EEF1A1P19,downstream_gene_variant,,ENST00000513637,;	1932	381	387	SUCCESS
TMEM174	134288	.	GRCh37	5	72469597	72469597	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs779454430	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	57	157	0	ENST00000296776.5:c.527T>A	p.Met176Lys	p.M176K	ENST00000296776	NM_153217.2	176	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS4018.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCATGTCAA	NONE	.	.	hmmpanther:PTHR31020,Pfam_domain:PF15029	.	.	ENSP00000296776	.	1/2	.	.	.	.	.	.	.	.	rs779454430	1/2	PASS	ENST00000296776	Transcript	.	.	ENSG00000164325	28187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.47)	.	TM174_HUMAN	TMEM174	HGNC	.	.	UPI0000037779	SNV	TMEM174,missense_variant,p.Met176Lys,ENST00000296776,;TMEM174,intron_variant,,ENST00000511737,;	576	157	131	SUCCESS
HIVEP1	3096	.	GRCh37	6	12120242	12120242	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	101	0	ENST00000379388.2:c.214C>T	p.Gln72Ter	p.Q72*	ENST00000379388	NM_002114.2	72	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS43426.1	214	MUTECT|MUSE	.	CTCTTCAGGCA	NONE	.	.	.	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,stop_gained,p.Gln72Ter,ENST00000487103,;HIVEP1,stop_gained,p.Gln72Ter,ENST00000491710,;HIVEP1,stop_gained,p.Gln72Ter,ENST00000379388,;HIVEP1,stop_gained,p.Gln72Ter,ENST00000478545,;HIVEP1,intron_variant,,ENST00000442081,;	546	101	93	SUCCESS
E2F3	1871	.	GRCh37	6	20481488	20481488	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	62	0	ENST00000346618.3:c.557T>G	p.Leu186Arg	p.L186R	ENST00000346618	NM_001949.4	186	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS4545.1	557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTCACCA	NONE	.	.	Superfamily_domains:SSF46785,Gene3D:1.10.10.10,Pfam_domain:PF02319,hmmpanther:PTHR12081:SF36,hmmpanther:PTHR12081	.	.	ENSP00000262904	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000346618	Transcript	.	.	ENSG00000112242	3115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	E2F3_HUMAN	E2F3	HGNC	Q24JQ3_HUMAN	.	UPI0000129AC2	SNV	E2F3,missense_variant,p.Leu55Arg,ENST00000535432,;E2F3,missense_variant,p.Leu186Arg,ENST00000346618,;	623	62	49	SUCCESS
CYP21A1P	1590	.	GRCh37	6	31974808	31974808	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	102	0	ENST00000342991.6:n.1100C>A		p.*367*	ENST00000342991				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	CAGGTCTCCGG	NONE	.	.	.	.	.	ENSP00000472615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000594256	Transcript	.	.	ENSG00000268923	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AL645922.1	Clone_based_ensembl_gene	M0R2J5_HUMAN	.	UPI0001AE71FD	SNV	AL645922.1,intron_variant,,ENST00000594256,;C4A,downstream_gene_variant,,ENST00000498271,;C4A,downstream_gene_variant,,ENST00000428956,;C4A-AS1,upstream_gene_variant,,ENST00000458633,;CYP21A1P,non_coding_transcript_exon_variant,,ENST00000342991,;C4A,downstream_gene_variant,,ENST00000465724,;C4A,downstream_gene_variant,,ENST00000491876,;C4A,downstream_gene_variant,,ENST00000463034,;C4A,downstream_gene_variant,,ENST00000469975,;CYP21A1P,non_coding_transcript_exon_variant,,ENST00000354927,;TNXA,downstream_gene_variant,,ENST00000507684,;	.	102	89	SUCCESS
BAI3	0	.	GRCh37	6	69758094	69758094	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	69	165	1	ENST00000370598.1:c.2125C>T	p.Leu709Phe	p.L709F	ENST00000370598	NM_001704.2	709	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS4968.1	2125	RADIA|VARSCANS	.	AGAAGCTTCCT	NONE	.	.	hmmpanther:PTHR12011:SF40,hmmpanther:PTHR12011,Pfam_domain:PF12003	.	.	ENSP00000359630	.	14/32	.	.	.	.	.	.	.	.	.	14/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.525)	.	tolerated(0.43)	.	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,missense_variant,p.Leu709Phe,ENST00000370598,;	2946	167	153	SUCCESS
ZAN	7455	.	GRCh37	7	100349486	100349486	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	87	124	0	ENST00000546292.1:c.1758C>A	p.Val586=	p.V586=	ENST00000546292	NM_173059.1	586	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	.	1758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCCCCAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000445943	.	13/46	.	.	.	.	.	.	.	.	.	13/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	1906	124	152	SUCCESS
SRRT	51593	.	GRCh37	7	100478943	100478943	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	39	0	ENST00000347433.4:c.160G>T	p.Glu54Ter	p.E54*	ENST00000347433		54	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34709.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGAATAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0	.	.	ENSP00000314491	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000347433	Transcript	.	.	ENSG00000087087	24101	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRRT_HUMAN	SRRT	HGNC	.	.	UPI0000126098	SNV	SRRT,stop_gained,p.Glu54Ter,ENST00000347433,;SRRT,stop_gained,p.Glu54Ter,ENST00000388793,;SRRT,stop_gained,p.Glu54Ter,ENST00000432932,;SRRT,stop_gained,p.Glu61Ter,ENST00000431645,;SRRT,stop_gained,p.Glu54Ter,ENST00000457580,;SRRT,upstream_gene_variant,,ENST00000448764,;SRRT,3_prime_UTR_variant,,ENST00000448716,;SRRT,upstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000466432,;SRRT,upstream_gene_variant,,ENST00000423692,;	318	39	62	SUCCESS
RELN	5649	.	GRCh37	7	103202066	103202066	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	67	0	ENST00000428762.1:c.5442T>C	p.Pro1814=	p.P1814=	ENST00000428762	NM_005045.3	1814	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS47680.1	5442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCAGGATG	NONE	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	36/65	.	.	.	.	.	.	.	.	.	36/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,synonymous_variant,p.%3D,ENST00000424685,;RELN,synonymous_variant,p.%3D,ENST00000428762,;RELN,synonymous_variant,p.%3D,ENST00000343529,;	5602	67	76	SUCCESS
DOCK4	9732	.	GRCh37	7	111449457	111449457	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1321989834	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	27	66	0	ENST00000437633.1:c.3007A>G	p.Ile1003Val	p.I1003V	ENST00000437633	NM_014705.3	1003	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47688.1	3007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGATCTAAA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75	.	.	ENSP00000404179	.	29/52	.	.	.	.	.	.	.	.	.	29/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Ile1027Val,ENST00000445943,;DOCK4,missense_variant,p.Ile1003Val,ENST00000428084,;DOCK4,missense_variant,p.Ile455Val,ENST00000423057,;DOCK4,missense_variant,p.Ile1003Val,ENST00000437633,;DOCK4-AS1,intron_variant,,ENST00000452714,;DOCK4,splice_region_variant,,ENST00000469898,;	3264	66	46	SUCCESS
DPP6	1804	.	GRCh37	7	154645526	154645526	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	101	0	ENST00000377770.3:c.1703C>G	p.Thr568Arg	p.T568R	ENST00000377770		568	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	.	1703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAACAGATA	NONE	.	.	Superfamily_domains:SSF82171,Gene3D:2.140.10.30,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.57)	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Thr461Arg,ENST00000427557,;DPP6,missense_variant,p.Thr568Arg,ENST00000377770,;DPP6,missense_variant,p.Thr506Arg,ENST00000332007,;DPP6,missense_variant,p.Thr504Arg,ENST00000404039,;RP11-476H24.1,intron_variant,,ENST00000448767,;DPP6,non_coding_transcript_exon_variant,,ENST00000493268,;	1844	101	88	SUCCESS
INHBA	3624	.	GRCh37	7	41729922	41729922	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	105	0	ENST00000242208.4:c.607G>T	p.Glu203Ter	p.E203*	ENST00000242208	NM_002192.2	203	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5464.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTCACTCC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF133,Pfam_domain:PF00688	.	.	ENSP00000242208	.	3/3	.	.	.	.	.	.	.	.	COSM3923616	3/3	PASS	ENST00000242208	Transcript	.	.	ENSG00000122641	6066	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	INHBA_HUMAN	INHBA	HGNC	A4D1W7_HUMAN	.	UPI000012D421	SNV	INHBA,stop_gained,p.Glu203Ter,ENST00000442711,;INHBA,stop_gained,p.Glu203Ter,ENST00000242208,;AC005027.3,intron_variant,,ENST00000416150,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;	854	105	94	SUCCESS
SPDYE1	285955	.	GRCh37	7	44044517	44044517	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	18	0	ENST00000258704.3:c.547-224C>T		p.*183*	ENST00000258704	NM_175064.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5475.1	.	MUTECT|MUSE	.	GCCCACCATCC	NONE	.	.	.	.	.	ENSP00000258704	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258704	Transcript	.	.	ENSG00000136206	16408	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPDE1_HUMAN	SPDYE1	HGNC	.	.	UPI000013CFF7	SNV	SPDYE1,intron_variant,,ENST00000258704,;AC004951.6,non_coding_transcript_exon_variant,,ENST00000447643,;POLR2J4,intron_variant,,ENST00000422304,;RP5-1165K10.2,intron_variant,,ENST00000454572,;POLR2J4,intron_variant,,ENST00000427076,;	.	18	18	SUCCESS
VSTM2A	222008	.	GRCh37	7	54621767	54621767	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	94	0	ENST00000407838.3:c.634+3904G>A		p.*212*	ENST00000407838	NM_182546.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5512.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGTAAAT	NONE	.	.	.	.	.	ENSP00000384967	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,splice_donor_variant,,ENST00000404951,;VSTM2A,intron_variant,,ENST00000402613,;VSTM2A,intron_variant,,ENST00000407838,;VSTM2A,downstream_gene_variant,,ENST00000402026,;VSTM2A,downstream_gene_variant,,ENST00000302287,;GS1-18A18.1,upstream_gene_variant,,ENST00000456049,;VSTM2A,intron_variant,,ENST00000466888,;VSTM2A,intron_variant,,ENST00000498834,;VSTM2A,downstream_gene_variant,,ENST00000469952,;	.	94	99	SUCCESS
HSPB1	3315	.	GRCh37	7	75932984	75932984	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	27	2	ENST00000248553.6:c.365-135A>C		p.*122*	ENST00000248553	NM_001540.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5583.1	.	MUTECT|MUSE	.	CCCCCATCCCC	NONE	.	.	.	.	.	ENSP00000248553	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000248553	Transcript	.	.	ENSG00000106211	5246	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HSPB1_HUMAN	HSPB1	HGNC	C9J3N8_HUMAN	.	UPI000004D118	SNV	HSPB1,5_prime_UTR_variant,,ENST00000429938,;HSPB1,intron_variant,,ENST00000248553,;HSPB1,3_prime_UTR_variant,,ENST00000447574,;	.	30	29	SUCCESS
CCDC146	57639	.	GRCh37	7	76796998	76796998	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	257	125	411	0	ENST00000285871.4:c.13A>G	p.Ser5Gly	p.S5G	ENST00000285871	NM_020879.2	5	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS34671.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTAGCACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	.	.	ENSP00000285871	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000285871	Transcript	.	.	ENSG00000135205	29296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.19)	.	CC146_HUMAN	CCDC146	HGNC	Q7Z4Q3_HUMAN	.	UPI000020F44F	SNV	CCDC146,missense_variant,p.Ser5Gly,ENST00000415750,;CCDC146,missense_variant,p.Ser5Gly,ENST00000285871,;CCDC146,5_prime_UTR_variant,,ENST00000431197,;RP11-467H10.2,non_coding_transcript_exon_variant,,ENST00000459742,;	140	411	382	SUCCESS
SEMA3E	9723	.	GRCh37	7	83035265	83035265	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	65	0	ENST00000307792.3:c.924A>G	p.Glu308=	p.E308=	ENST00000307792	NM_012431.2	308	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS34674.1	924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAATTCATC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000303212	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,synonymous_variant,p.%3D,ENST00000427262,;SEMA3E,synonymous_variant,p.%3D,ENST00000307792,;SEMA3E,downstream_gene_variant,,ENST00000442159,;	1392	65	78	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813922	106813922	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs575054307	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	31	42	0	ENST00000407775.2:c.1612G>A	p.Val538Ile	p.V538I	ENST00000407775	NM_012082.3	538	Gtc/Atc	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS47908.1	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGTCATT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	A:0	.	ENSP00000384179	A:0	8/8	.	.	.	.	.	.	.	.	rs575054307,COSM1233428	8/8	PASS	ENST00000407775	Transcript	1	A:0.0002	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.99)	A:0.001	deleterious(0.04)	0,1	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Val406Ile,ENST00000517361,;ZFPM2,missense_variant,p.Val269Ile,ENST00000378472,;ZFPM2,missense_variant,p.Val406Ile,ENST00000520492,;ZFPM2,missense_variant,p.Val538Ile,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1862	42	32	SUCCESS
KIAA0368	0	.	GRCh37	9	114124389	114124389	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1213679636	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	62	133	0	ENST00000259335.4:c.5975C>T	p.Ala1992Val	p.A1992V	ENST00000259335	NM_001080398.1	1992	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS48006.1	5975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTAGCTAAA	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.19)	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Ala1814Val,ENST00000338205,;KIAA0368,missense_variant,p.Ala1992Val,ENST00000259335,;KIAA0368,intron_variant,,ENST00000374383,;KIAA0368,intron_variant,,ENST00000374378,;KIAA0368,downstream_gene_variant,,ENST00000465499,;	5975	133	116	SUCCESS
OLFML2A	169611	.	GRCh37	9	127563878	127563878	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	54	115	1	ENST00000373580.3:c.855G>T	p.Gln285His	p.Q285H	ENST00000373580	NM_182487.2	285	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS6857.2	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGGCTGT	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29	.	.	ENSP00000362682	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.713)	.	tolerated(0.1)	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,missense_variant,p.Gln71His,ENST00000288815,;OLFML2A,missense_variant,p.Gln249His,ENST00000331715,;OLFML2A,missense_variant,p.Gln285His,ENST00000373580,;	855	116	121	SUCCESS
OLFML2A	169611	.	GRCh37	9	127563879	127563879	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	55	117	0	ENST00000373580.3:c.856G>T	p.Ala286Ser	p.A286S	ENST00000373580	NM_182487.2	286	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6857.2	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGCTGTG	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29	.	.	ENSP00000362682	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	tolerated(0.29)	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,missense_variant,p.Ala72Ser,ENST00000288815,;OLFML2A,missense_variant,p.Ala250Ser,ENST00000331715,;OLFML2A,missense_variant,p.Ala286Ser,ENST00000373580,;	856	117	121	SUCCESS
OLFML2A	169611	.	GRCh37	9	127572139	127572139	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	58	0	ENST00000373580.3:c.1407C>T	p.His469=	p.H469=	ENST00000373580	NM_182487.2	469	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS6857.2	1407	MUTECT|MUSE	.	GGCCACGTGGT	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000362682	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,synonymous_variant,p.%3D,ENST00000288815,;OLFML2A,synonymous_variant,p.%3D,ENST00000373580,;	1407	58	54	SUCCESS
RABEPK	10244	.	GRCh37	9	127996064	127996064	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	53	112	0	ENST00000373538.3:c.924T>C	p.Ala308=	p.A308=	ENST00000373538	NM_005833.3	308	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6862.1	924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCTTCTGA	NONE	.	.	hmmpanther:PTHR23244:SF257,hmmpanther:PTHR23244	.	.	ENSP00000362639	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000373538	Transcript	.	.	ENSG00000136933	16896	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RABEK_HUMAN	RABEPK	HGNC	.	.	UPI000013D058	SNV	RABEPK,synonymous_variant,p.%3D,ENST00000373538,;RABEPK,synonymous_variant,p.%3D,ENST00000259460,;RABEPK,synonymous_variant,p.%3D,ENST00000394125,;RABEPK,3_prime_UTR_variant,,ENST00000394124,;HSPA5,downstream_gene_variant,,ENST00000324460,;	1234	112	117	SUCCESS
URM1	81605	.	GRCh37	9	131152007	131152007	+	synonymous_variant	Silent	SNP	C	C	T	rs374697837	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	91	0	ENST00000372853.4:c.300C>T	p.Gly100=	p.G100=	ENST00000372853	NM_001265582.1	100	ggC/ggT	0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS48035.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCGGCTG	NONE	byCluster	.	.	.	T:0.0001	ENSP00000412922	.	4/4	.	.	.	.	.	.	.	.	rs374697837	4/4	PASS	ENST00000452446	Transcript	.	.	ENSG00000167118	28378	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	URM1_HUMAN	URM1	HGNC	.	.	UPI00017A7D83	SNV	URM1,synonymous_variant,p.%3D,ENST00000372853,;URM1,3_prime_UTR_variant,,ENST00000372850,;URM1,3_prime_UTR_variant,,ENST00000452446,;URM1,downstream_gene_variant,,ENST00000372847,;RP11-339B21.11,upstream_gene_variant,,ENST00000609303,;MIR219-2,downstream_gene_variant,,ENST00000385220,;MIR219-2,downstream_gene_variant,,ENST00000608502,;URM1,non_coding_transcript_exon_variant,,ENST00000483206,;URM1,3_prime_UTR_variant,,ENST00000470840,;	718	91	82	SUCCESS
RBMXL3	139804	.	GRCh37	X	114426362	114426362	+	synonymous_variant	Silent	SNP	G	G	A	rs186136686	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	67	0	ENST00000424776.3:c.2358G>A	p.Ser786=	p.S786=	ENST00000424776	NM_001145346.1	786	tcG/tcA	0	A:0.0132	A:0.0023	.	A:0	.	A	S	protein_coding	YES	CCDS55478.1	2358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGCTCGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	A:0	A:0	ENSP00000417451	A:0	1/1	.	.	.	.	.	.	.	.	rs186136686	1/1	PASS	ENST00000424776	Transcript	.	A:0.0008	ENSG00000175718	26859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,synonymous_variant,p.%3D,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	2400	67	60	SUCCESS
USP26	83844	.	GRCh37	X	132161219	132161219	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764088622	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	126	248	0	ENST00000370832.1:c.1030C>T	p.Arg344Trp	p.R344W	ENST00000370832	NM_031907.1	344	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS14635.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCGTGCCA	NONE	byFrequency	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF379,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000423390	.	6/6	.	.	.	.	.	.	.	.	rs764088622,COSM1664913	6/6	PASS	ENST00000511190	Transcript	.	.	ENSG00000134588	13485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.601)	.	deleterious(0)	0,1	UBP26_HUMAN	USP26	HGNC	.	.	UPI00000421FD	SNV	USP26,missense_variant,p.Arg344Trp,ENST00000406273,;USP26,missense_variant,p.Arg344Trp,ENST00000511190,;USP26,missense_variant,p.Arg344Trp,ENST00000370832,;	1500	248	252	SUCCESS
FAM47B	170062	.	GRCh37	X	34962716	34962716	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	47	175	0	ENST00000329357.5:c.1768A>T	p.Ile590Phe	p.I590F	ENST00000329357	NM_152631.2	590	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS14236.1	1768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAATTGCC	NONE	.	.	.	.	.	ENSP00000328307	.	1/1	.	.	.	.	.	.	.	.	COSM1120819	1/1	PASS	ENST00000329357	Transcript	.	.	ENSG00000189132	26659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.973)	.	deleterious(0)	1	FA47B_HUMAN	FAM47B	HGNC	.	.	UPI000013F47B	SNV	FAM47B,missense_variant,p.Ile590Phe,ENST00000329357,;	1804	175	202	SUCCESS
CXorf67	0	.	GRCh37	X	51150637	51150637	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1275500691	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	34	0	ENST00000342995.2:c.769C>G	p.Arg257Gly	p.R257G	ENST00000342995		257	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	.	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCGTCTA	NONE	.	.	hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.501)	.	tolerated(0.33)	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,missense_variant,p.Arg257Gly,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	871	34	65	SUCCESS
DMBT1	1755	.	GRCh37	10	124352076	124352076	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	53	0	ENST00000338354.3:c.2465G>C	p.Cys822Ser	p.C822S	ENST00000338354		822	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS44490.1	2465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTGTGGCC	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	20/53	.	.	.	.	.	.	.	.	.	20/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	deleterious(0.01)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Cys812Ser,ENST00000344338,;DMBT1,missense_variant,p.Cys812Ser,ENST00000368955,;DMBT1,missense_variant,p.Cys822Ser,ENST00000368909,;DMBT1,missense_variant,p.Cys822Ser,ENST00000338354,;DMBT1,intron_variant,,ENST00000368956,;DMBT1,intron_variant,,ENST00000359586,;DMBT1,intron_variant,,ENST00000330163,;	2571	53	56	SUCCESS
GPR26	2849	.	GRCh37	10	125447555	125447555	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770105456	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	67	0	ENST00000284674.1:c.893G>A	p.Arg298Gln	p.R298Q	ENST00000284674	NM_153442.3	298	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS7636.1	893	MUTECT|MUSE	.	ACTGCGACACC	NONE	byFrequency	.	hmmpanther:PTHR24245:SF5,hmmpanther:PTHR24245,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000284674	.	3/3	.	.	.	.	.	.	.	.	rs770105456,COSM465390	3/3	PASS	ENST00000284674	Transcript	.	.	ENSG00000154478	4481	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.701)	.	tolerated(0.1)	0,1	GPR26_HUMAN	GPR26	HGNC	.	.	UPI000006E821	SNV	GPR26,missense_variant,p.Arg298Gln,ENST00000284674,;	946	67	46	SUCCESS
PTPRE	5791	.	GRCh37	10	129854474	129854474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	41	0	ENST00000254667.3:c.508C>A	p.Pro170Thr	p.P170T	ENST00000254667	NM_006504.4	170	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS7657.1	508	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCCAGT	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF49,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000254667	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000254667	Transcript	.	.	ENSG00000132334	9669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.312)	.	tolerated(0.12)	.	PTPRE_HUMAN	PTPRE	HGNC	Q96P81_HUMAN,Q69YS2_HUMAN,Q5VWH6_HUMAN,Q5VWH5_HUMAN	.	UPI0000132991	SNV	PTPRE,missense_variant,p.Pro170Thr,ENST00000419012,;PTPRE,missense_variant,p.Pro112Thr,ENST00000306042,;PTPRE,missense_variant,p.Pro170Thr,ENST00000254667,;PTPRE,intron_variant,,ENST00000430713,;PTPRE,downstream_gene_variant,,ENST00000471218,;PTPRE,downstream_gene_variant,,ENST00000467366,;PTPRE,downstream_gene_variant,,ENST00000455661,;PTPRE,missense_variant,p.Pro112Thr,ENST00000479896,;PTPRE,missense_variant,p.Pro112Thr,ENST00000495530,;	787	41	36	SUCCESS
MCM10	55388	.	GRCh37	10	13234349	13234349	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	73	0	ENST00000484800.2:c.1614C>G	p.Ala538=	p.A538=	ENST00000484800		538	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7096.1	1614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCCAAAGC	NONE	.	.	hmmpanther:PTHR13454,Pfam_domain:PF09332	.	.	ENSP00000418268	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000484800	Transcript	.	.	ENSG00000065328	18043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,synonymous_variant,p.%3D,ENST00000484800,;MCM10,synonymous_variant,p.%3D,ENST00000378714,;MCM10,synonymous_variant,p.%3D,ENST00000378694,;MCM10,upstream_gene_variant,,ENST00000481292,;MCM10,upstream_gene_variant,,ENST00000459751,;	1717	73	72	SUCCESS
AP3M1	26985	.	GRCh37	10	75896531	75896531	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1487440243	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	114	0	ENST00000355264.4:c.304A>G	p.Ile102Val	p.I102V	ENST00000355264	NM_012095.4	102	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7342.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAATTGCAG	NONE	.	.	hmmpanther:PTHR11998:SF23,hmmpanther:PTHR11998,Gene3D:3.30.450.60,Pfam_domain:PF01217,PIRSF_domain:PIRSF005992,Superfamily_domains:SSF64356,Prints_domain:PR00314	.	.	ENSP00000347408	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000355264	Transcript	.	.	ENSG00000185009	569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious(0.04)	.	AP3M1_HUMAN	AP3M1	HGNC	Q8NDP0_HUMAN	.	UPI00000012A0	SNV	AP3M1,missense_variant,p.Ile102Val,ENST00000355264,;AP3M1,missense_variant,p.Ile102Val,ENST00000372745,;AP3M1,downstream_gene_variant,,ENST00000487653,;	616	114	99	SUCCESS
CUL5	8065	.	GRCh37	11	107923507	107923507	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1278845366	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	65	0	ENST00000393094.2:c.532A>G	p.Ile178Val	p.I178V	ENST00000393094	NM_003478.3	178	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31668.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTATTGGA	NONE	.	.	hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF65,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF74788	.	.	ENSP00000376808	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000393094	Transcript	.	.	ENSG00000166266	2556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	tolerated(0.13)	.	CUL5_HUMAN	CUL5	HGNC	L0L6D8_HUMAN,L0L6C1_HUMAN	.	UPI00001380B0	SNV	CUL5,missense_variant,p.Ile75Val,ENST00000532782,;CUL5,missense_variant,p.Ile178Val,ENST00000393094,;CUL5,missense_variant,p.Ile178Val,ENST00000531427,;CUL5,3_prime_UTR_variant,,ENST00000532064,;	1148	65	51	SUCCESS
CADM1	23705	.	GRCh37	11	115111039	115111039	+	synonymous_variant	Silent	SNP	G	G	A	rs752868486	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	111	0	ENST00000452722.3:c.226C>T	p.Leu76=	p.L76=	ENST00000452722	NM_014333.3	76	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8373.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAGCTGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000395359	.	2/10	.	.	.	.	.	.	.	.	rs752868486	2/10	PASS	ENST00000452722	Transcript	.	.	ENSG00000182985	5951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADM1_HUMAN	CADM1	HGNC	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN	.	UPI0000049C25	SNV	CADM1,synonymous_variant,p.%3D,ENST00000452722,;CADM1,synonymous_variant,p.%3D,ENST00000331581,;CADM1,synonymous_variant,p.%3D,ENST00000545094,;CADM1,synonymous_variant,p.%3D,ENST00000536727,;CADM1,synonymous_variant,p.%3D,ENST00000545380,;CADM1,synonymous_variant,p.%3D,ENST00000543249,;CADM1,synonymous_variant,p.%3D,ENST00000542447,;CADM1,synonymous_variant,p.%3D,ENST00000537058,;CADM1,5_prime_UTR_variant,,ENST00000543540,;CADM1,5_prime_UTR_variant,,ENST00000542450,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,3_prime_UTR_variant,,ENST00000540951,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;	247	111	83	SUCCESS
APLP2	334	.	GRCh37	11	129992322	129992322	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	4	121	0	ENST00000263574.5:c.836A>G	p.Lys279Arg	p.K279R	ENST00000263574	NM_001642.2	279	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS8486.1	836	MUTECT|MUSE	.	CTTCAAAGGAG	NONE	.	.	hmmpanther:PTHR23103:SF14,hmmpanther:PTHR23103	.	.	ENSP00000263574	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000263574	Transcript	.	.	ENSG00000084234	598	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	deleterious_low_confidence(0.04)	.	APLP2_HUMAN	APLP2	HGNC	Q9UED0_HUMAN	.	UPI0000125CAE	SNV	APLP2,missense_variant,p.Lys279Arg,ENST00000338167,;APLP2,missense_variant,p.Lys123Arg,ENST00000539648,;APLP2,missense_variant,p.Lys186Arg,ENST00000543137,;APLP2,missense_variant,p.Lys289Arg,ENST00000278756,;APLP2,missense_variant,p.Lys279Arg,ENST00000263574,;APLP2,missense_variant,p.Lys279Arg,ENST00000528499,;APLP2,intron_variant,,ENST00000345598,;APLP2,downstream_gene_variant,,ENST00000533713,;APLP2,non_coding_transcript_exon_variant,,ENST00000529701,;APLP2,downstream_gene_variant,,ENST00000526330,;APLP2,downstream_gene_variant,,ENST00000529483,;APLP2,downstream_gene_variant,,ENST00000534001,;APLP2,downstream_gene_variant,,ENST00000534761,;APLP2,downstream_gene_variant,,ENST00000529235,;APLP2,downstream_gene_variant,,ENST00000527702,;APLP2,3_prime_UTR_variant,,ENST00000533616,;APLP2,downstream_gene_variant,,ENST00000534582,;APLP2,downstream_gene_variant,,ENST00000533618,;	908	121	103	SUCCESS
LRP4	4038	.	GRCh37	11	46880821	46880821	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	77	0	ENST00000378623.1:c.5431G>T	p.Glu1811Ter	p.E1811*	ENST00000378623	NM_002334.3	1811	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS31478.1	5431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTCTACGA	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196	.	.	ENSP00000367888	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,stop_gained,p.Glu1811Ter,ENST00000378623,;LRP4-AS1,intron_variant,,ENST00000502049,;LRP4-AS1,intron_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000529604,;	5674	77	71	SUCCESS
NRXN2	9379	.	GRCh37	11	64434903	64434903	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	64	0	ENST00000265459.6:c.1617G>A	p.Gly539=	p.G539=	ENST00000265459	NM_015080.3	539	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8077.1	1617	MUTECT|MUSE|VARSCANS	.	CCACCCCCAGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000265459	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000265459	Transcript	.	.	ENSG00000110076	8009	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NRX2A_HUMAN	NRXN2	HGNC	.	.	UPI0000130AA2	SNV	NRXN2,synonymous_variant,p.%3D,ENST00000377551,;NRXN2,synonymous_variant,p.%3D,ENST00000265459,;NRXN2,synonymous_variant,p.%3D,ENST00000409571,;NRXN2,synonymous_variant,p.%3D,ENST00000377559,;NRXN2,downstream_gene_variant,,ENST00000417749,;NRXN2,downstream_gene_variant,,ENST00000442300,;NRXN2,downstream_gene_variant,,ENST00000437746,;	2079	64	63	SUCCESS
RELA	5970	.	GRCh37	11	65423177	65423177	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	49	0	ENST00000406246.3:c.1015G>A	p.Ala339Thr	p.A339T	ENST00000406246	NM_001243985.1	339	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31609.1	1015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCTGAGC	NONE	.	.	hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF1	.	.	ENSP00000384273	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000406246	Transcript	.	.	ENSG00000173039	9955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.34)	.	TF65_HUMAN	RELA	HGNC	Q96F54_HUMAN,E9PRX2_HUMAN,E9PJZ9_HUMAN,E9PJR1_HUMAN,E9PI38_HUMAN	.	UPI000013ED68	SNV	RELA,missense_variant,p.Ala339Thr,ENST00000406246,;RELA,missense_variant,p.Ala339Thr,ENST00000525693,;RELA,missense_variant,p.Ala350Thr,ENST00000532999,;RELA,missense_variant,p.Ala336Thr,ENST00000308639,;RELA,downstream_gene_variant,,ENST00000527749,;RELA,downstream_gene_variant,,ENST00000534558,;RELA,downstream_gene_variant,,ENST00000533187,;SIPA1,downstream_gene_variant,,ENST00000527525,;SIPA1,downstream_gene_variant,,ENST00000394224,;SIPA1,downstream_gene_variant,,ENST00000394227,;RELA,downstream_gene_variant,,ENST00000532879,;RELA,downstream_gene_variant,,ENST00000526257,;RELA,downstream_gene_variant,,ENST00000527874,;SIPA1,downstream_gene_variant,,ENST00000534313,;RELA,3_prime_UTR_variant,,ENST00000526283,;RELA,non_coding_transcript_exon_variant,,ENST00000531484,;RELA,downstream_gene_variant,,ENST00000529389,;RELA,downstream_gene_variant,,ENST00000531238,;RELA,downstream_gene_variant,,ENST00000533546,;RELA,downstream_gene_variant,,ENST00000525658,;SIPA1,downstream_gene_variant,,ENST00000528699,;RELA,downstream_gene_variant,,ENST00000526738,;RELA,downstream_gene_variant,,ENST00000529330,;RELA,downstream_gene_variant,,ENST00000525301,;RELA,downstream_gene_variant,,ENST00000527909,;RELA,downstream_gene_variant,,ENST00000527074,;	1277	49	39	SUCCESS
SYT9	143425	.	GRCh37	11	7335070	7335070	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	80	0	ENST00000318881.6:c.942T>C	p.Ser314=	p.S314=	ENST00000318881	NM_175733.3	314	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7778.1	942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTCGTCA	NONE	.	.	Prints_domain:PR00399,Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF174,PROSITE_profiles:PS50004	.	.	ENSP00000324419	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000318881	Transcript	.	.	ENSG00000170743	19265	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT9_HUMAN	SYT9	HGNC	.	.	UPI000000DB7B	SNV	SYT9,synonymous_variant,p.%3D,ENST00000318881,;SYT9,synonymous_variant,p.%3D,ENST00000396716,;SYT9,synonymous_variant,p.%3D,ENST00000524820,;SYT9,intron_variant,,ENST00000532592,;	1179	80	72	SUCCESS
AMOTL1	154810	.	GRCh37	11	94533439	94533439	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	57	0	ENST00000433060.2:c.1083C>T	p.Val361=	p.V361=	ENST00000433060	NM_130847.2	361	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44712.1	1083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTCCTGCG	NONE	.	.	hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12	.	.	ENSP00000387739	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000433060	Transcript	.	.	ENSG00000166025	17811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMOL1_HUMAN	AMOTL1	HGNC	.	.	UPI00000742C2	SNV	AMOTL1,synonymous_variant,p.%3D,ENST00000317837,;AMOTL1,synonymous_variant,p.%3D,ENST00000317829,;AMOTL1,synonymous_variant,p.%3D,ENST00000433060,;AMOTL1,downstream_gene_variant,,ENST00000299004,;	1224	57	47	SUCCESS
HNF1A	6927	.	GRCh37	12	121416899	121416899	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	56	0	ENST00000257555.6:c.326+2T>A		p.X109_splice	ENST00000257555		109		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9209.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTAAGGA	NONE	.	.	.	.	.	ENSP00000257555	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	HIGH	1/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,splice_donor_variant,,ENST00000541395,;HNF1A,splice_donor_variant,,ENST00000400024,;HNF1A,splice_donor_variant,,ENST00000402929,;HNF1A,splice_donor_variant,,ENST00000543427,;HNF1A,splice_donor_variant,,ENST00000544413,;HNF1A,splice_donor_variant,,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A-AS1,intron_variant,,ENST00000537361,;HNF1A-AS1,intron_variant,,ENST00000433033,;HNF1A-AS1,intron_variant,,ENST00000535301,;HNF1A,splice_donor_variant,,ENST00000560968,;HNF1A,splice_donor_variant,,ENST00000538646,;HNF1A,splice_donor_variant,,ENST00000541924,;HNF1A,splice_donor_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;	.	56	58	SUCCESS
RECQL	5965	.	GRCh37	12	21630878	21630878	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	6	85	0	ENST00000421138.2:c.726G>A	p.Lys242=	p.K242=	ENST00000421138		242	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS31756.1	726	MUTECT|MUSE	.	TGCCGCTTTAA	NONE	.	.	SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,TIGRFAM_domain:TIGR00614,hmmpanther:PTHR13710:SF72,hmmpanther:PTHR13710,PROSITE_profiles:PS51192	.	.	ENSP00000416739	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000444129	Transcript	.	.	ENSG00000004700	9948	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RECQ1_HUMAN	RECQL	HGNC	F8WD97_HUMAN,F8WA66_HUMAN,F5H4P4_HUMAN,F5H3W0_HUMAN,F5H2L2_HUMAN,F5GYB7_HUMAN	.	UPI0000167E2F	SNV	RECQL,synonymous_variant,p.%3D,ENST00000421138,;RECQL,synonymous_variant,p.%3D,ENST00000444129,;	1195	85	110	SUCCESS
ITGA7	3679	.	GRCh37	12	56081838	56081841	+	frameshift_variant	Frame_Shift_Del	DEL	CTGC	CTGC	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	CTGC	CTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	95	0	ENST00000555728.1:c.3229_3232del	p.Ala1077LysfsTer19	p.A1077Kfs*19	ENST00000555728		1077	GCAGaa/aa	0	.	.	.	.	.	-	AE/X	protein_coding	YES	CCDS55832.1	3109-3112	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCTTCTGCCACCA	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	deletion	ITGA7,frameshift_variant,p.Ala940LysfsTer19,ENST00000452168,;ITGA7,frameshift_variant,p.Ala1033LysfsTer19,ENST00000257879,;ITGA7,frameshift_variant,p.Ala1037LysfsTer19,ENST00000394230,;ITGA7,frameshift_variant,p.Ala1077LysfsTer19,ENST00000555728,;ITGA7,frameshift_variant,p.Ala1037LysfsTer19,ENST00000553804,;ITGA7,frameshift_variant,p.Ala1077LysfsTer19,ENST00000257880,;ITGA7,frameshift_variant,p.Gly63GlufsTer86,ENST00000557555,;ITGA7,frameshift_variant,p.Ala1027LysfsTer19,ENST00000347027,;ITGA7,frameshift_variant,p.Ala1033LysfsTer19,ENST00000394229,;METTL7B,downstream_gene_variant,,ENST00000394252,;ITGA7,3_prime_UTR_variant,,ENST00000554327,;	3128-3131	95	67	SUCCESS
ORMDL2	29095	.	GRCh37	12	56214115	56214116	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	115	37	169	0	ENST00000243045.5:c.400_401del	p.Val134ThrfsTer57	p.V134Tfs*57	ENST00000243045	NM_014182.4	133	aGT/a	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS8893.1	398-399	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTAAGTGTACT	NONE	.	.	hmmpanther:PTHR12665:SF13,hmmpanther:PTHR12665,Pfam_domain:PF04061,PIRSF_domain:PIRSF018147	.	.	ENSP00000243045	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243045	Transcript	.	.	ENSG00000123353	16037	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ORML2_HUMAN	ORMDL2	HGNC	F8VXD5_HUMAN,F8VWV8_HUMAN	.	UPI0000035F65	deletion	ORMDL2,frameshift_variant,p.Val134ThrfsTer57,ENST00000243045,;ORMDL2,frameshift_variant,p.Val46ThrfsTer?,ENST00000550836,;ORMDL2,frameshift_variant,p.Val100ThrfsTer57,ENST00000552672,;ORMDL2,frameshift_variant,p.Val134ThrfsTer57,ENST00000548974,;RP11-762I7.5,intron_variant,,ENST00000546837,;DNAJC14,downstream_gene_variant,,ENST00000317287,;SARNP,upstream_gene_variant,,ENST00000336133,;DNAJC14,downstream_gene_variant,,ENST00000357606,;SARNP,upstream_gene_variant,,ENST00000552080,;SARNP,upstream_gene_variant,,ENST00000444631,;DNAJC14,downstream_gene_variant,,ENST00000317269,;RP11-762I7.5,intron_variant,,ENST00000552719,;RP11-762I7.5,frameshift_variant,p.Thr172LeufsTer7,ENST00000546813,;RP11-762I7.5,intron_variant,,ENST00000550124,;RP11-762I7.5,intron_variant,,ENST00000548593,;SARNP,upstream_gene_variant,,ENST00000552207,;SARNP,upstream_gene_variant,,ENST00000546604,;ORMDL2,downstream_gene_variant,,ENST00000546645,;SARNP,upstream_gene_variant,,ENST00000552884,;	593-594	169	152	SUCCESS
NR2C1	7181	.	GRCh37	12	95424369	95424369	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	87	0	ENST00000333003.5:c.1393+756G>T		p.*465*	ENST00000333003	NM_003297.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9051.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATCTATTT	NONE	.	.	.	.	.	ENSP00000333275	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333003	Transcript	.	.	ENSG00000120798	7971	.	.	MODIFIER	11/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR2C1_HUMAN	NR2C1	HGNC	H9NIM2_HUMAN	.	UPI00001AE7E6	SNV	NR2C1,3_prime_UTR_variant,,ENST00000393101,;NR2C1,3_prime_UTR_variant,,ENST00000330677,;NR2C1,intron_variant,,ENST00000551647,;NR2C1,intron_variant,,ENST00000333003,;NR2C1,intron_variant,,ENST00000545833,;NR2C1,intron_variant,,ENST00000547594,;NR2C1,3_prime_UTR_variant,,ENST00000552791,;NR2C1,intron_variant,,ENST00000552484,;NR2C1,intron_variant,,ENST00000552861,;NR2C1,intron_variant,,ENST00000546416,;	.	87	61	SUCCESS
ATP12A	479	.	GRCh37	13	25284610	25284610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	41	150	0	ENST00000381946.3:c.2776A>G	p.Arg926Gly	p.R926G	ENST00000381946		926	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS53858.1	2794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGAGGGAA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Superfamily_domains:0049473	.	.	ENSP00000218548	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Arg932Gly,ENST00000218548,;ATP12A,missense_variant,p.Arg926Gly,ENST00000381946,;	3127	150	139	SUCCESS
POTEG	404785	.	GRCh37	14	19574226	19574226	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	12	87	0	ENST00000547889.1:c.1283G>A	p.Gly428Glu	p.G428E	ENST00000547889		428	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS32018.1	1283	RADIA|VARSCANS	.	TATGGGATTCC	NONE	.	.	hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118	.	.	ENSP00000386971	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.031)	.	tolerated(0.68)	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,missense_variant,p.Gly428Glu,ENST00000409832,;POTEG,missense_variant,p.Gly428Glu,ENST00000547889,;POTEG,3_prime_UTR_variant,,ENST00000552966,;	1335	87	95	SUCCESS
POTEG	404785	.	GRCh37	14	19574227	19574227	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	85	0	ENST00000547889.1:c.1284A>C	p.Gly428=	p.G428=	ENST00000547889		428	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS32018.1	1284	RADIA|VARSCANS	.	ATGGGATTCCC	NONE	.	.	hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118	.	.	ENSP00000386971	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,synonymous_variant,p.%3D,ENST00000409832,;POTEG,synonymous_variant,p.%3D,ENST00000547889,;POTEG,3_prime_UTR_variant,,ENST00000552966,;	1336	85	93	SUCCESS
KLHL33	123103	.	GRCh37	14	20898166	20898166	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1594397123	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	66	0	ENST00000344581.4:c.669G>A	p.Met223Ile	p.M223I	ENST00000344581	NM_001109997.2	223	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS53882.1	669	MUTECT|MUSE|VARSCANS	.	AGGGCCATGTC	NONE	.	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412	.	.	ENSP00000341549	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000344581	Transcript	.	.	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.114)	.	deleterious(0.04)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Met223Ile,ENST00000344581,;	892	66	51	SUCCESS
HEATR4	399671	.	GRCh37	14	73964942	73964942	+	synonymous_variant	Silent	SNP	G	G	T	rs747162876	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	94	0	ENST00000334988.2:c.2463C>A	p.Ile821=	p.I821=	ENST00000334988	NM_203309.2	821	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9815.2	2463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGGATGCT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14	.	.	ENSP00000450444	.	14/18	.	.	.	.	.	.	.	.	rs747162876,COSM1300810,COSM1300809	14/18	PASS	ENST00000553558	Transcript	.	.	ENSG00000187105	16761	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	HEAT4_HUMAN	HEATR4	HGNC	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN	.	UPI00001FD7FD	SNV	HEATR4,synonymous_variant,p.%3D,ENST00000553558,;HEATR4,synonymous_variant,p.%3D,ENST00000560393,;HEATR4,synonymous_variant,p.%3D,ENST00000334988,;C14orf169,downstream_gene_variant,,ENST00000531973,;AC005280.1,downstream_gene_variant,,ENST00000304061,;	2785	94	94	SUCCESS
SNW1	22938	.	GRCh37	14	78184553	78184553	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	125	0	ENST00000261531.7:c.1489G>T	p.Asp497Tyr	p.D497Y	ENST00000261531	NM_012245.2	497	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9867.1	1489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCTTCCT	NONE	.	.	hmmpanther:PTHR12096	.	.	ENSP00000261531	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,missense_variant,p.Asp335Tyr,ENST00000554775,;SNW1,missense_variant,p.Lys523Asn,ENST00000555761,;SNW1,missense_variant,p.Asp497Tyr,ENST00000261531,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557623,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,downstream_gene_variant,,ENST00000557342,;SLIRP,downstream_gene_variant,,ENST00000238688,;SLIRP,downstream_gene_variant,,ENST00000556831,;SLIRP,downstream_gene_variant,,ENST00000553981,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SLIRP,intron_variant,,ENST00000556310,;SLIRP,downstream_gene_variant,,ENST00000556956,;SLIRP,downstream_gene_variant,,ENST00000555890,;	1552	125	103	SUCCESS
ATG2B	55102	.	GRCh37	14	96779439	96779439	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs529500826	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	66	0	ENST00000359933.4:c.3805A>C	p.Ser1269Arg	p.S1269R	ENST00000359933	NM_018036.5	1269	Agt/Cgt	0	.	G:0	.	G:0	.	G	S/R	protein_coding	YES	CCDS9944.2	3805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACTGGAAA	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	G:0.001	.	ENSP00000353010	G:0	25/42	.	.	.	.	.	.	.	.	rs529500826	25/42	PASS	ENST00000359933	Transcript	.	G:0.0002	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	G:0	deleterious(0)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Ser1269Arg,ENST00000359933,;ATG2B,downstream_gene_variant,,ENST00000488421,;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;	4699	66	62	SUCCESS
CILP	8483	.	GRCh37	15	65489133	65489133	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs377269093	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	61	0	ENST00000261883.4:c.3491G>T	p.Arg1164Leu	p.R1164L	ENST00000261883	NM_003613.3	1164	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS10203.1	3491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGCTGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3	.	T:0.0001	ENSP00000261883	.	9/9	.	.	.	.	.	.	.	.	rs377269093	9/9	PASS	ENST00000261883	Transcript	1	.	ENSG00000138615	1980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.15)	.	CILP1_HUMAN	CILP	HGNC	.	.	UPI000013D21B	SNV	CILP,missense_variant,p.Arg1164Leu,ENST00000261883,;	3658	61	47	SUCCESS
AGBL1	123624	.	GRCh37	15	86807754	86807754	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs79186009	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	95	0	ENST00000441037.2:c.1214C>A	p.Ser405Tyr	p.S405Y	ENST00000441037	NM_152336.2	405	tCt/tAt	0	A:0.0092	A:0.0136	.	A:0	.	A	S/Y	protein_coding	YES	CCDS58398.1	1214	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCTTCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756	A:0	A:0	ENSP00000413001	A:0	10/24	.	.	.	.	.	.	.	.	rs79186009,COSM3816969,COSM3816970	10/24	common_in_exac	ENST00000441037	Transcript	1	A:0.0036	ENSG00000166748	26504	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.73)	A:0	deleterious(0.01)	0,1,1	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,missense_variant,p.Ser136Tyr,ENST00000389298,;AGBL1,missense_variant,p.Ser405Tyr,ENST00000441037,;AGBL1,missense_variant,p.Ser405Tyr,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	1309	95	83	SUCCESS
FTO	79068	.	GRCh37	16	53737970	53737970	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	42	0	ENST00000471389.1:c.-127T>G		p.*43*	ENST00000471389	NM_001080432.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32448.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTTTTTTC	NONE	.	.	.	.	.	ENSP00000418823	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000471389	Transcript	.	.	ENSG00000140718	24678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FTO_HUMAN	FTO	HGNC	B4DHN4_HUMAN	.	UPI000013D7B3	SNV	FTO,5_prime_UTR_variant,,ENST00000471389,;RPGRIP1L,upstream_gene_variant,,ENST00000562230,;RPGRIP1L,upstream_gene_variant,,ENST00000563746,;RPGRIP1L,upstream_gene_variant,,ENST00000569716,;RPGRIP1L,upstream_gene_variant,,ENST00000379925,;FTO,upstream_gene_variant,,ENST00000394647,;RPGRIP1L,upstream_gene_variant,,ENST00000562588,;RPGRIP1L,upstream_gene_variant,,ENST00000568653,;RPGRIP1L,upstream_gene_variant,,ENST00000262135,;RPGRIP1L,upstream_gene_variant,,ENST00000564374,;RPGRIP1L,upstream_gene_variant,,ENST00000566096,;FTO,upstream_gene_variant,,ENST00000570395,;FTO,upstream_gene_variant,,ENST00000464071,;	96	42	33	SUCCESS
WDR59	79726	.	GRCh37	16	74919609	74919609	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	90	0	ENST00000262144.6:c.2631G>A	p.Glu877=	p.E877=	ENST00000262144	NM_030581.3	877	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS32488.1	2631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTCTCTCT	NONE	.	.	hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF96	.	.	ENSP00000262144	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000262144	Transcript	.	.	ENSG00000103091	25706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR59_HUMAN	WDR59	HGNC	H3BUE9_HUMAN,H3BR95_HUMAN	.	UPI000019839C	SNV	WDR59,synonymous_variant,p.%3D,ENST00000262144,;WDR59,synonymous_variant,p.%3D,ENST00000563797,;WDR59,downstream_gene_variant,,ENST00000569229,;WDR59,non_coding_transcript_exon_variant,,ENST00000569968,;WDR59,non_coding_transcript_exon_variant,,ENST00000569183,;WDR59,downstream_gene_variant,,ENST00000569788,;WDR59,downstream_gene_variant,,ENST00000566924,;WDR59,downstream_gene_variant,,ENST00000567018,;WDR59,downstream_gene_variant,,ENST00000563381,;	2762	90	102	SUCCESS
GRIN2A	2903	.	GRCh37	16	9862753	9862753	+	synonymous_variant	Silent	SNP	C	C	T	rs750224605	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	40	0	ENST00000330684.3:c.2550G>A	p.Thr850=	p.T850=	ENST00000330684	NM_001134407.1	850	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10539.1	2550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCCGTGAA	SITE|p.T850T|c.2550G>A|3	byFrequency	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Pfam_domain:PF10565	.	.	ENSP00000379818	.	13/14	.	.	.	.	.	.	.	.	rs750224605,COSM244808	13/14	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,synonymous_variant,p.%3D,ENST00000396573,;GRIN2A,synonymous_variant,p.%3D,ENST00000404927,;GRIN2A,synonymous_variant,p.%3D,ENST00000535259,;GRIN2A,synonymous_variant,p.%3D,ENST00000330684,;GRIN2A,synonymous_variant,p.%3D,ENST00000396575,;GRIN2A,synonymous_variant,p.%3D,ENST00000562109,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000463531,;	2860	40	37	SUCCESS
WSB1	26118	.	GRCh37	17	25633966	25633966	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	26	0	ENST00000262394.2:c.711+58A>G		p.*237*	ENST00000262394	NM_015626.8			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11220.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATAATCAT	NONE	.	.	.	.	.	ENSP00000262394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262394	Transcript	.	.	ENSG00000109046	19221	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WSB1_HUMAN	WSB1	HGNC	.	.	UPI0000031568	SNV	WSB1,3_prime_UTR_variant,,ENST00000581185,;WSB1,intron_variant,,ENST00000348811,;WSB1,intron_variant,,ENST00000579733,;WSB1,intron_variant,,ENST00000262394,;WSB1,intron_variant,,ENST00000584114,;WSB1,intron_variant,,ENST00000583193,;WSB1,intron_variant,,ENST00000427287,;WSB1,downstream_gene_variant,,ENST00000583742,;WSB1,downstream_gene_variant,,ENST00000581440,;WSB1,downstream_gene_variant,,ENST00000583786,;WSB1,downstream_gene_variant,,ENST00000578312,;WSB1,intron_variant,,ENST00000467843,;WSB1,intron_variant,,ENST00000487603,;WSB1,intron_variant,,ENST00000583096,;WSB1,downstream_gene_variant,,ENST00000582208,;WSB1,downstream_gene_variant,,ENST00000581089,;WSB1,downstream_gene_variant,,ENST00000584354,;	.	26	24	SUCCESS
OR1G1	8390	.	GRCh37	17	3030650	3030650	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	75	0	ENST00000328890.2:c.196C>T	p.Leu66Phe	p.L66F	ENST00000328890	NM_003555.1	66	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11020.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGGTTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF247,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000331545	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328890	Transcript	.	.	ENSG00000183024	8204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	OR1G1_HUMAN	OR1G1	HGNC	.	.	UPI0000041B68	SNV	OR1G1,missense_variant,p.Leu66Phe,ENST00000328890,;	226	75	66	SUCCESS
PTRF	0	.	GRCh37	17	40556905	40556905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	95	0	ENST00000357037.5:c.973G>A	p.Val325Ile	p.V325I	ENST00000357037	NM_012232.5	325	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS11425.1	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGACGTGGA	NONE	.	.	hmmpanther:PTHR15240:SF3,hmmpanther:PTHR15240	.	.	ENSP00000349541	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357037	Transcript	.	.	ENSG00000177469	9688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.19)	.	PTRF_HUMAN	PTRF	HGNC	.	.	UPI00001AF3C2	SNV	PTRF,missense_variant,p.Val325Ile,ENST00000357037,;	1393	95	88	SUCCESS
EZH1	2145	.	GRCh37	17	40872423	40872423	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	75	0	ENST00000428826.2:c.532G>C	p.Glu178Gln	p.E178Q	ENST00000428826		178	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS32659.1	532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTCCAGAA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF314,SMART_domains:SM00717	.	.	ENSP00000404658	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000428826	Transcript	.	.	ENSG00000108799	3526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.02)	.	EZH1_HUMAN	EZH1	HGNC	K7EPC0_HUMAN,K7EK66_HUMAN	.	UPI000012A3BA	SNV	EZH1,missense_variant,p.Glu129Gln,ENST00000586382,;EZH1,missense_variant,p.Glu178Gln,ENST00000592743,;EZH1,missense_variant,p.Glu108Gln,ENST00000590078,;EZH1,missense_variant,p.Glu138Gln,ENST00000586089,;EZH1,missense_variant,p.Glu138Gln,ENST00000585893,;EZH1,missense_variant,p.Glu178Gln,ENST00000428826,;EZH1,missense_variant,p.Glu39Gln,ENST00000435174,;EZH1,missense_variant,p.Glu169Gln,ENST00000415827,;EZH1,downstream_gene_variant,,ENST00000593214,;EZH1,downstream_gene_variant,,ENST00000592492,;EZH1,downstream_gene_variant,,ENST00000590082,;EZH1,missense_variant,p.Glu42Gln,ENST00000586935,;EZH1,3_prime_UTR_variant,,ENST00000588897,;EZH1,3_prime_UTR_variant,,ENST00000586867,;EZH1,non_coding_transcript_exon_variant,,ENST00000587179,;EZH1,non_coding_transcript_exon_variant,,ENST00000585550,;EZH1,non_coding_transcript_exon_variant,,ENST00000586103,;EZH1,non_coding_transcript_exon_variant,,ENST00000591330,;EZH1,non_coding_transcript_exon_variant,,ENST00000585912,;EZH1,upstream_gene_variant,,ENST00000588239,;EZH1,upstream_gene_variant,,ENST00000593148,;	654	75	78	SUCCESS
MYBBP1A	10514	.	GRCh37	17	4442761	4442761	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	60	0	ENST00000254718.4:c.3936T>G	p.Leu1312=	p.L1312=	ENST00000254718		1312	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42238.1	3936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGAAGCAG	NONE	.	.	.	.	.	ENSP00000370968	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000381556	Transcript	.	.	ENSG00000132382	7546	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBB1A_HUMAN	MYBBP1A	HGNC	.	.	UPI0000551C8B	SNV	MYBBP1A,synonymous_variant,p.%3D,ENST00000573723,;MYBBP1A,synonymous_variant,p.%3D,ENST00000381556,;MYBBP1A,synonymous_variant,p.%3D,ENST00000573116,;MYBBP1A,synonymous_variant,p.%3D,ENST00000254718,;SPNS2,downstream_gene_variant,,ENST00000329078,;MYBBP1A,downstream_gene_variant,,ENST00000572759,;SPNS2,downstream_gene_variant,,ENST00000571386,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574167,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574547,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000571368,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000574934,;SPNS2,downstream_gene_variant,,ENST00000570979,;SPNS2,downstream_gene_variant,,ENST00000573106,;MYBBP1A,downstream_gene_variant,,ENST00000575662,;SPNS2,downstream_gene_variant,,ENST00000570641,;SPNS2,downstream_gene_variant,,ENST00000571668,;SPNS2,downstream_gene_variant,,ENST00000573990,;SPNS2,downstream_gene_variant,,ENST00000576635,;	3998	60	62	SUCCESS
EFCAB13	124989	.	GRCh37	17	45421602	45421602	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	91	0	ENST00000331493.2:c.378T>A	p.Asn126Lys	p.N126K	ENST00000331493	NM_152347.4	126	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS11512.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAATCAGTA	NONE	.	.	hmmpanther:PTHR22656	.	.	ENSP00000332111	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.12)	.	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,missense_variant,p.Asn126Lys,ENST00000517484,;EFCAB13,missense_variant,p.Asn126Lys,ENST00000331493,;ITGB3,3_prime_UTR_variant,,ENST00000435993,;EFCAB13,5_prime_UTR_variant,,ENST00000517310,;EFCAB13,downstream_gene_variant,,ENST00000518081,;EFCAB13,downstream_gene_variant,,ENST00000520802,;ITGB3,3_prime_UTR_variant,,ENST00000560629,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000520776,;EFCAB13,downstream_gene_variant,,ENST00000518646,;	789	91	85	SUCCESS
HEATR6	63897	.	GRCh37	17	58121003	58121003	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761191743	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	42	124	0	ENST00000184956.6:c.3467G>T	p.Gly1156Val	p.G1156V	ENST00000184956	NM_022070.4	1156	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11623.1	3467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGCCCATG	NONE	byFrequency	.	hmmpanther:PTHR13366,Superfamily_domains:SSF48371	.	.	ENSP00000184956	.	20/20	.	.	.	.	.	.	.	.	rs761191743	20/20	PASS	ENST00000184956	Transcript	.	.	ENSG00000068097	24076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.32)	.	HEAT6_HUMAN	HEATR6	HGNC	K7ELR8_HUMAN	.	UPI0000366C37	SNV	HEATR6,missense_variant,p.Gly1044Val,ENST00000585976,;HEATR6,missense_variant,p.Gly1156Val,ENST00000184956,;AC005702.1,upstream_gene_variant,,ENST00000581326,;AC005702.4,upstream_gene_variant,,ENST00000583144,;AC005702.3,upstream_gene_variant,,ENST00000582298,;MIR4737,upstream_gene_variant,,ENST00000583979,;AC005702.2,upstream_gene_variant,,ENST00000577558,;HEATR6,3_prime_UTR_variant,,ENST00000587003,;HEATR6,downstream_gene_variant,,ENST00000587314,;HEATR6,downstream_gene_variant,,ENST00000591683,;	3484	125	100	SUCCESS
NARF	26502	.	GRCh37	17	80442749	80442749	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	79	0	ENST00000309794.11:c.894C>T	p.His298=	p.H298=	ENST00000309794	NM_031968.2	298	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS32777.1	894	MUTECT|MUSE	.	GGGCACCTGGC	NONE	.	.	Superfamily_domains:SSF53920,Pfam_domain:PF02906,Gene3D:1hfeL01,hmmpanther:PTHR11615:SF124,hmmpanther:PTHR11615	.	.	ENSP00000309899	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000309794	Transcript	.	.	ENSG00000141562	29916	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NARF_HUMAN	NARF	HGNC	J3QSD9_HUMAN,J3QRB0_HUMAN,J3QL28_HUMAN,J3KS03_HUMAN,B5KGZ1_HUMAN	.	UPI0000073D0C	SNV	NARF,synonymous_variant,p.%3D,ENST00000457415,;NARF,synonymous_variant,p.%3D,ENST00000390006,;NARF,synonymous_variant,p.%3D,ENST00000577432,;NARF,synonymous_variant,p.%3D,ENST00000309794,;NARF,synonymous_variant,p.%3D,ENST00000345415,;NARF,intron_variant,,ENST00000584513,;NARF,downstream_gene_variant,,ENST00000577410,;NARF,downstream_gene_variant,,ENST00000412079,;NARF-IT1,downstream_gene_variant,,ENST00000584012,;NARF,downstream_gene_variant,,ENST00000581743,;NARF,3_prime_UTR_variant,,ENST00000374611,;NARF,3_prime_UTR_variant,,ENST00000582907,;NARF,non_coding_transcript_exon_variant,,ENST00000583908,;NARF,non_coding_transcript_exon_variant,,ENST00000577812,;NARF,non_coding_transcript_exon_variant,,ENST00000578820,;NARF,non_coding_transcript_exon_variant,,ENST00000584445,;NARF,intron_variant,,ENST00000584965,;NARF,downstream_gene_variant,,ENST00000581202,;NARF,downstream_gene_variant,,ENST00000581795,;	1092	79	79	SUCCESS
SPIRE1	56907	.	GRCh37	18	12464886	12464886	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	51	0	ENST00000409402.4:c.1476G>A	p.Glu492=	p.E492=	ENST00000409402	NM_001128626.1	492	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS45829.1	1476	MUTECT|MUSE	.	ACGGCCTCCAG	NONE	.	.	hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000387266	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000409402	Transcript	.	.	ENSG00000134278	30622	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPIR1_HUMAN	SPIRE1	HGNC	Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN	.	UPI00001C1FFE	SNV	SPIRE1,synonymous_variant,p.%3D,ENST00000409402,;SPIRE1,synonymous_variant,p.%3D,ENST00000410092,;SPIRE1,synonymous_variant,p.%3D,ENST00000383356,;SPIRE1,synonymous_variant,p.%3D,ENST00000309836,;SPIRE1,synonymous_variant,p.%3D,ENST00000453447,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000464481,;SPIRE1,synonymous_variant,p.%3D,ENST00000440472,;SPIRE1,intron_variant,,ENST00000592156,;	1744	51	53	SUCCESS
KATNAL2	83473	.	GRCh37	18	44593424	44593424	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	64	0	ENST00000356157.7:c.759G>T	p.Trp253Cys	p.W253C	ENST00000356157		253	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS32828.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGGAATGA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF78,HAMAP:MF_03025	.	.	ENSP00000245121	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000245121	Transcript	.	.	ENSG00000167216	25387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KATL2_HUMAN	KATNAL2	HGNC	K7EM02_HUMAN	.	UPI0000456B8E	SNV	KATNAL2,missense_variant,p.Trp181Cys,ENST00000245121,;KATNAL2,missense_variant,p.Trp253Cys,ENST00000356157,;KATNAL2,intron_variant,,ENST00000588433,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,upstream_gene_variant,,ENST00000586198,;KATNAL2,downstream_gene_variant,,ENST00000585469,;KATNAL2,upstream_gene_variant,,ENST00000591522,;	737	64	53	SUCCESS
LIPG	9388	.	GRCh37	18	47110073	47110073	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	5	176	0	ENST00000261292.4:c.1305T>C	p.Ser435=	p.S435=	ENST00000261292	NM_006033.2	435	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS11938.1	1305	MUTECT|MUSE	.	CTGTCTCAACC	NONE	.	.	Superfamily_domains:SSF49723,PIRSF_domain:PIRSF000865,SMART_domains:SM00308,Pfam_domain:PF01477,Gene3D:2.60.60.20,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610,PROSITE_profiles:PS50095	.	.	ENSP00000261292	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000261292	Transcript	.	.	ENSG00000101670	6623	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPE_HUMAN	LIPG	HGNC	J3KTN7_HUMAN	.	UPI000012E706	SNV	LIPG,synonymous_variant,p.%3D,ENST00000261292,;LIPG,synonymous_variant,p.%3D,ENST00000427224,;LIPG,downstream_gene_variant,,ENST00000577628,;LIPG,downstream_gene_variant,,ENST00000580036,;	1583	176	144	SUCCESS
GRAMD1A	57655	.	GRCh37	19	35501096	35501096	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	80	0	ENST00000317991.5:c.426C>G	p.Thr142=	p.T142=	ENST00000317991	NM_020895.3	142	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS42546.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACCACGGT	NONE	.	.	hmmpanther:PTHR23319:SF8,hmmpanther:PTHR23319,Pfam_domain:PF02893,SMART_domains:SM00568	.	.	ENSP00000441032	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000317991	Transcript	.	.	ENSG00000089351	29305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM1A_HUMAN	GRAMD1A	HGNC	.	.	UPI00000377B4	SNV	GRAMD1A,synonymous_variant,p.%3D,ENST00000317991,;GRAMD1A,synonymous_variant,p.%3D,ENST00000599564,;GRAMD1A,synonymous_variant,p.%3D,ENST00000411896,;GRAMD1A,synonymous_variant,p.%3D,ENST00000424536,;GRAMD1A,5_prime_UTR_variant,,ENST00000504615,;CTD-2527I21.14,downstream_gene_variant,,ENST00000605640,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000594597,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000598073,;GRAMD1A,downstream_gene_variant,,ENST00000603669,;GRAMD1A,synonymous_variant,p.%3D,ENST00000600231,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000599476,;GRAMD1A,upstream_gene_variant,,ENST00000598362,;GRAMD1A,upstream_gene_variant,,ENST00000595596,;GRAMD1A,upstream_gene_variant,,ENST00000598118,;GRAMD1A,upstream_gene_variant,,ENST00000598580,;	618	80	51	SUCCESS
KPTN	11133	.	GRCh37	19	47984228	47984228	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	76	0	ENST00000338134.3:c.512A>G	p.His171Arg	p.H171R	ENST00000338134	NM_007059.2	171	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS42583.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGAATG	NONE	.	.	hmmpanther:PTHR15435:SF2,hmmpanther:PTHR15435	.	.	ENSP00000337850	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000338134	Transcript	1	.	ENSG00000118162	6404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KPTN_HUMAN	KPTN	HGNC	M0R238_HUMAN,M0QZ83_HUMAN,B4DQ76_HUMAN	.	UPI000007002E	SNV	KPTN,missense_variant,p.His171Arg,ENST00000338134,;KPTN,missense_variant,p.His115Arg,ENST00000595554,;KPTN,5_prime_UTR_variant,,ENST00000536339,;KPTN,5_prime_UTR_variant,,ENST00000600271,;NAPA-AS1,upstream_gene_variant,,ENST00000594367,;NAPA-AS1,upstream_gene_variant,,ENST00000593284,;KPTN,non_coding_transcript_exon_variant,,ENST00000602193,;KPTN,non_coding_transcript_exon_variant,,ENST00000595484,;KPTN,non_coding_transcript_exon_variant,,ENST00000598699,;KPTN,upstream_gene_variant,,ENST00000600551,;KPTN,3_prime_UTR_variant,,ENST00000594208,;KPTN,non_coding_transcript_exon_variant,,ENST00000594139,;	620	76	80	SUCCESS
IRF3	3661	.	GRCh37	19	50167999	50167999	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	63	0	ENST00000309877.7:c.97C>T	p.Arg33Cys	p.R33C	ENST00000309877		33	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS59409.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGCGTGC	NONE	.	.	PROSITE_profiles:PS51507,hmmpanther:PTHR11949:SF1,hmmpanther:PTHR11949,PROSITE_patterns:PS00601,Pfam_domain:PF00605,Gene3D:1.10.10.10,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267	.	.	ENSP00000471896	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000601291	Transcript	.	.	ENSG00000126456	6118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	IRF3_HUMAN	IRF3	HGNC	Q71U93_HUMAN,M0R205_HUMAN,M0R0X9_HUMAN,M0R0R8_HUMAN,M0R007_HUMAN,M0QYX3_HUMAN,M0QXC8_HUMAN	.	UPI000013CBFE	SNV	IRF3,missense_variant,p.Arg33Cys,ENST00000596756,;IRF3,missense_variant,p.Arg33Cys,ENST00000442265,;IRF3,missense_variant,p.Arg33Cys,ENST00000600911,;IRF3,missense_variant,p.Arg33Cys,ENST00000593337,;IRF3,missense_variant,p.Arg33Cys,ENST00000309877,;IRF3,missense_variant,p.Arg33Cys,ENST00000601809,;IRF3,missense_variant,p.Arg33Cys,ENST00000600453,;IRF3,missense_variant,p.Arg33Cys,ENST00000601291,;IRF3,missense_variant,p.Arg33Cys,ENST00000377135,;IRF3,missense_variant,p.Arg33Cys,ENST00000599223,;IRF3,missense_variant,p.Arg33Cys,ENST00000597198,;IRF3,missense_variant,p.Arg33Cys,ENST00000377139,;IRF3,missense_variant,p.Arg33Cys,ENST00000598108,;IRF3,intron_variant,,ENST00000598808,;IRF3,intron_variant,,ENST00000596765,;IRF3,intron_variant,,ENST00000600022,;IRF3,intron_variant,,ENST00000599144,;IRF3,intron_variant,,ENST00000596822,;IRF3,intron_variant,,ENST00000593922,;IRF3,intron_variant,,ENST00000593818,;IRF3,intron_variant,,ENST00000601373,;IRF3,intron_variant,,ENST00000595034,;BCL2L12,upstream_gene_variant,,ENST00000598306,;BCL2L12,upstream_gene_variant,,ENST00000246785,;BCL2L12,upstream_gene_variant,,ENST00000594157,;BCL2L12,upstream_gene_variant,,ENST00000600947,;BCL2L12,upstream_gene_variant,,ENST00000246784,;BCL2L12,upstream_gene_variant,,ENST00000441864,;IRF3,intron_variant,,ENST00000597180,;IRF3,upstream_gene_variant,,ENST00000599680,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,missense_variant,p.Arg33Cys,ENST00000597636,;IRF3,non_coding_transcript_exon_variant,,ENST00000594387,;IRF3,upstream_gene_variant,,ENST00000597369,;IRF3,upstream_gene_variant,,ENST00000596788,;BCL2L12,upstream_gene_variant,,ENST00000598979,;BCL2L12,upstream_gene_variant,,ENST00000601168,;IRF3,upstream_gene_variant,,ENST00000595240,;IRF3,upstream_gene_variant,,ENST00000596644,;	277	63	57	SUCCESS
PTBP1	5725	.	GRCh37	19	804341	804341	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751656120	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	30	0	ENST00000349038.4:c.338A>G	p.Tyr113Cys	p.Y113C	ENST00000349038	NM_031991.3	113	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS42456.1	338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTACTACA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF17,Pfam_domain:PF13893,TIGRFAM_domain:TIGR01649,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000349428	.	5/15	.	.	.	.	.	.	.	.	rs751656120	5/15	PASS	ENST00000356948	Transcript	.	.	ENSG00000011304	9583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	tolerated(0.06)	.	PTBP1_HUMAN	PTBP1	HGNC	.	.	UPI00000720B7	SNV	PTBP1,missense_variant,p.Tyr113Cys,ENST00000349038,;PTBP1,missense_variant,p.Tyr113Cys,ENST00000589575,;PTBP1,missense_variant,p.Tyr127Cys,ENST00000586481,;PTBP1,missense_variant,p.Tyr113Cys,ENST00000394601,;PTBP1,missense_variant,p.Tyr113Cys,ENST00000356948,;PTBP1,missense_variant,p.Tyr113Cys,ENST00000585535,;PTBP1,intron_variant,,ENST00000350092,;PTBP1,upstream_gene_variant,,ENST00000585956,;PTBP1,downstream_gene_variant,,ENST00000587094,;MIR4745,upstream_gene_variant,,ENST00000577608,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000592113,;PTBP1,non_coding_transcript_exon_variant,,ENST00000590887,;PTBP1,intron_variant,,ENST00000587191,;PTBP1,upstream_gene_variant,,ENST00000585932,;PTBP1,upstream_gene_variant,,ENST00000589569,;PTBP1,upstream_gene_variant,,ENST00000589883,;PTBP1,upstream_gene_variant,,ENST00000592804,;PTBP1,upstream_gene_variant,,ENST00000589770,;PTBP1,upstream_gene_variant,,ENST00000585856,;PTBP1,upstream_gene_variant,,ENST00000587136,;	761	30	41	SUCCESS
ARID3A	1820	.	GRCh37	19	966608	966608	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368267576	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	96	0	ENST00000263620.3:c.1235G>T	p.Arg412Leu	p.R412L	ENST00000263620	NM_005224.2	412	cGc/cTc	0	A:0	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS12050.1	1235	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGCCTGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF1	A:0	A:0.0001	ENSP00000263620	A:0	7/9	.	.	.	.	.	.	.	.	rs368267576	7/9	PASS	ENST00000263620	Transcript	.	A:0.0002	ENSG00000116017	3031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.416)	A:0.001	deleterious(0.03)	.	ARI3A_HUMAN	ARID3A	HGNC	.	.	UPI0000129881	SNV	ARID3A,missense_variant,p.Arg412Leu,ENST00000263620,;ARID3A,intron_variant,,ENST00000587532,;ARID3A,non_coding_transcript_exon_variant,,ENST00000590251,;ARID3A,upstream_gene_variant,,ENST00000590749,;ARID3A,downstream_gene_variant,,ENST00000585733,;	1562	96	69	SUCCESS
INSRR	3645	.	GRCh37	1	156815015	156815015	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747196691	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	59	0	ENST00000368195.3:c.2290G>A	p.Glu764Lys	p.E764K	ENST00000368195	NM_014215.2	764	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1160.1	2290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCTGGA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265	.	.	ENSP00000357178	.	12/22	.	.	.	.	.	.	.	.	rs747196691	12/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	tolerated(0.06)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Glu764Lys,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	2687	59	75	SUCCESS
FCRL1	115350	.	GRCh37	1	157771365	157771365	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	46	118	0	ENST00000368176.3:c.889C>T	p.Pro297Ser	p.P297S	ENST00000368176	NM_001159398.1	297	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1170.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGGCACTA	NONE	.	.	hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481,Gene3D:2.60.40.10	.	.	ENSP00000357158	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	tolerated(0.07)	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Pro297Ser,ENST00000368176,;FCRL1,missense_variant,p.Pro297Ser,ENST00000491942,;FCRL1,intron_variant,,ENST00000358292,;FCRL1,splice_region_variant,,ENST00000463001,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,intron_variant,,ENST00000489998,;FCRL1,upstream_gene_variant,,ENST00000495126,;	957	118	120	SUCCESS
TIPRL	261726	.	GRCh37	1	168165787	168165787	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	32	0	ENST00000367833.2:c.519A>C	p.Arg173Ser	p.R173S	ENST00000367833	NM_152902.3	173	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS1270.1	519	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGAGAGTAAT	NONE	.	.	hmmpanther:PTHR21021,Pfam_domain:PF04176	.	.	ENSP00000356807	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000367833	Transcript	.	.	ENSG00000143155	30231	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TIPRL_HUMAN	TIPRL	HGNC	.	.	UPI0000071605	SNV	TIPRL,missense_variant,p.Arg173Ser,ENST00000367833,;TIPRL,downstream_gene_variant,,ENST00000367830,;	664	32	20	SUCCESS
CEP350	9857	.	GRCh37	1	180080224	180080224	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201090590	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	100	0	ENST00000367607.3:c.9282G>T	p.Glu3094Asp	p.E3094D	ENST00000367607	NM_014810.4	3094	gaG/gaT	0	.	C:0	.	C:0	.	T	E/D	protein_coding	YES	CCDS1336.1	9282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGACCCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR13958	C:0	.	ENSP00000356579	C:0.001	38/38	.	.	.	.	.	.	.	.	rs201090590	38/38	PASS	ENST00000367607	Transcript	.	C:0.0002	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	C:0	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Glu1269Asp,ENST00000429851,;CEP350,missense_variant,p.Glu558Asp,ENST00000417046,;CEP350,missense_variant,p.Glu3094Asp,ENST00000367607,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,downstream_gene_variant,,ENST00000496440,;	9700	100	66	SUCCESS
UBR4	23352	.	GRCh37	1	19525340	19525340	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	40	145	0	ENST00000375254.3:c.461T>A	p.Met154Lys	p.M154K	ENST00000375254	NM_020765.2	154	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS189.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCATTGCT	NONE	.	.	hmmpanther:PTHR21725	.	.	ENSP00000364403	.	4/106	.	.	.	.	.	.	.	.	.	4/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Met154Lys,ENST00000375254,;UBR4,missense_variant,p.Met154Lys,ENST00000375217,;UBR4,missense_variant,p.Met154Lys,ENST00000375267,;UBR4,missense_variant,p.Met154Lys,ENST00000375226,;	489	145	122	SUCCESS
TPRG1L	127262	.	GRCh37	1	3544159	3544159	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	87	0	ENST00000378344.2:c.566C>G	p.Ala189Gly	p.A189G	ENST00000378344	NM_182752.3	189	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS47.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGCCACTT	NONE	.	.	hmmpanther:PTHR31108:SF3,hmmpanther:PTHR31108	.	.	ENSP00000367595	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000378344	Transcript	.	.	ENSG00000158109	27007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious(0)	.	TPRGL_HUMAN	TPRG1L	HGNC	.	.	UPI000014067B	SNV	TPRG1L,missense_variant,p.Ala130Gly,ENST00000344579,;TPRG1L,missense_variant,p.Ala189Gly,ENST00000378344,;WRAP73,downstream_gene_variant,,ENST00000270708,;WRAP73,downstream_gene_variant,,ENST00000378322,;WRAP73,downstream_gene_variant,,ENST00000424367,;RP11-46F15.2,upstream_gene_variant,,ENST00000435049,;WRAP73,downstream_gene_variant,,ENST00000471223,;	637	87	70	SUCCESS
SAMD11	148398	.	GRCh37	1	878691	878691	+	synonymous_variant	Silent	SNP	C	C	G	rs745574657	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	104	0	ENST00000342066.3:c.1623C>G	p.Thr541=	p.T541=	ENST00000342066	NM_152486.2	541	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2.2	1623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACCAAGTG	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF67,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000342313	.	12/14	.	.	.	.	.	.	.	.	rs745574657	12/14	PASS	ENST00000342066	Transcript	.	.	ENSG00000187634	28706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAM11_HUMAN	SAMD11	HGNC	Q5SV95_HUMAN,I7FV93_HUMAN,A6PWC8_HUMAN	.	UPI0000D61E04	SNV	SAMD11,synonymous_variant,p.%3D,ENST00000342066,;SAMD11,synonymous_variant,p.%3D,ENST00000455979,;SAMD11,synonymous_variant,p.%3D,ENST00000341065,;SAMD11,downstream_gene_variant,,ENST00000420190,;NOC2L,downstream_gene_variant,,ENST00000327044,;NOC2L,downstream_gene_variant,,ENST00000496938,;SAMD11,downstream_gene_variant,,ENST00000478729,;SAMD11,downstream_gene_variant,,ENST00000464948,;SAMD11,downstream_gene_variant,,ENST00000466827,;SAMD11,downstream_gene_variant,,ENST00000474461,;NOC2L,downstream_gene_variant,,ENST00000483767,;NOC2L,downstream_gene_variant,,ENST00000477976,;	1706	104	92	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42159524	42159524	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	38	144	0	ENST00000427442.2:c.1213A>T	p.Ser405Cys	p.S405C	ENST00000427442		405	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46602.2	1213	RADIA|MUTECT|MUSE	.	GCCAGAGCCAC	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000402107	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.061)	.	deleterious(0)	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	SNV	L3MBTL1,missense_variant,p.Ser337Cys,ENST00000444063,;L3MBTL1,missense_variant,p.Ser123Cys,ENST00000422861,;L3MBTL1,missense_variant,p.Ser337Cys,ENST00000373134,;L3MBTL1,missense_variant,p.Ser337Cys,ENST00000373135,;L3MBTL1,missense_variant,p.Ser405Cys,ENST00000427442,;L3MBTL1,missense_variant,p.Ser405Cys,ENST00000418998,;L3MBTL1,downstream_gene_variant,,ENST00000457824,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000497347,;L3MBTL1,intron_variant,,ENST00000485334,;L3MBTL1,intron_variant,,ENST00000445228,;L3MBTL1,upstream_gene_variant,,ENST00000483547,;L3MBTL1,upstream_gene_variant,,ENST00000373133,;L3MBTL1,downstream_gene_variant,,ENST00000430781,;	1372	144	117	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42159526	42159526	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	137	0	ENST00000427442.2:c.1215C>T	p.Ser405=	p.S405=	ENST00000427442		405	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS46602.2	1215	RADIA|MUTECT|MUSE	.	CAGAGCCACGT	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000402107	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	SNV	L3MBTL1,synonymous_variant,p.%3D,ENST00000444063,;L3MBTL1,synonymous_variant,p.%3D,ENST00000422861,;L3MBTL1,synonymous_variant,p.%3D,ENST00000373134,;L3MBTL1,synonymous_variant,p.%3D,ENST00000373135,;L3MBTL1,synonymous_variant,p.%3D,ENST00000427442,;L3MBTL1,synonymous_variant,p.%3D,ENST00000418998,;L3MBTL1,downstream_gene_variant,,ENST00000457824,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000497347,;L3MBTL1,intron_variant,,ENST00000485334,;L3MBTL1,intron_variant,,ENST00000445228,;L3MBTL1,upstream_gene_variant,,ENST00000483547,;L3MBTL1,upstream_gene_variant,,ENST00000373133,;L3MBTL1,downstream_gene_variant,,ENST00000430781,;	1374	137	113	SUCCESS
CCT8	10694	.	GRCh37	21	30439333	30439333	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	43	200	1	ENST00000286788.4:c.441A>G	p.Val147=	p.V147=	ENST00000286788	NM_006585.2	147	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS33528.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATACCAA	NONE	.	.	Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02346,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF60	.	.	ENSP00000286788	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000286788	Transcript	.	.	ENSG00000156261	1623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPQ_HUMAN	CCT8	HGNC	Q7Z759_HUMAN	.	UPI0000136B0D	SNV	CCT8,synonymous_variant,p.%3D,ENST00000431234,;CCT8,synonymous_variant,p.%3D,ENST00000286788,;CCT8,synonymous_variant,p.%3D,ENST00000542732,;CCT8,synonymous_variant,p.%3D,ENST00000540844,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;CCT8,non_coding_transcript_exon_variant,,ENST00000481059,;CCT8,upstream_gene_variant,,ENST00000480359,;CCT8,downstream_gene_variant,,ENST00000494296,;CCT8,non_coding_transcript_exon_variant,,ENST00000484403,;CCT8,upstream_gene_variant,,ENST00000475205,;CCT8,upstream_gene_variant,,ENST00000496121,;	648	201	149	SUCCESS
CRYZL1	9946	.	GRCh37	21	35003837	35003837	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	82	306	0	ENST00000381554.3:c.21A>G	p.Gln7=	p.Q7=	ENST00000381554	NM_145858.2	7	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS13633.2	21	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTTGGAA	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF10,Superfamily_domains:SSF50129	.	.	ENSP00000370966	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000381554	Transcript	.	.	ENSG00000205758	2420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QORL1_HUMAN	CRYZL1	HGNC	C9K0F7_HUMAN,C9JQD0_HUMAN,C9JAL0_HUMAN	.	UPI0000038C61	SNV	CRYZL1,synonymous_variant,p.%3D,ENST00000431177,;CRYZL1,synonymous_variant,p.%3D,ENST00000445393,;CRYZL1,synonymous_variant,p.%3D,ENST00000381554,;CRYZL1,synonymous_variant,p.%3D,ENST00000381540,;CRYZL1,synonymous_variant,p.%3D,ENST00000413017,;CRYZL1,synonymous_variant,p.%3D,ENST00000290244,;CRYZL1,synonymous_variant,p.%3D,ENST00000438788,;CRYZL1,synonymous_variant,p.%3D,ENST00000361534,;CRYZL1,splice_region_variant,,ENST00000417979,;AP000304.12,intron_variant,,ENST00000429238,;CRYZL1,intron_variant,,ENST00000426935,;CRYZL1,synonymous_variant,p.%3D,ENST00000420072,;CRYZL1,synonymous_variant,p.%3D,ENST00000429827,;CRYZL1,non_coding_transcript_exon_variant,,ENST00000490714,;	107	306	236	SUCCESS
POTEH	23784	.	GRCh37	22	16267054	16267054	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	755	53	908	1	ENST00000343518.6:c.1395A>C	p.Gly465=	p.G465=	ENST00000343518	NM_001136213.1	465	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS46658.1	1395	MUTECT|MUSE	.	GGGAATCCCAT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,synonymous_variant,p.%3D,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1447	909	808	SUCCESS
POTEH	23784	.	GRCh37	22	16267055	16267055	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768243673	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	750	50	899	1	ENST00000343518.6:c.1394G>A	p.Gly465Glu	p.G465E	ENST00000343518	NM_001136213.1	465	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS46658.1	1394	MUTECT|MUSE	.	GGAATCCCATA	BUFFER|p.P467S|c.1399C>T|3	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	9/11	.	.	.	.	.	.	.	.	rs768243673	9/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.77)	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Gly465Glu,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1446	900	801	SUCCESS
ODF3B	440836	.	GRCh37	22	50969452	50969452	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	118	0	ENST00000329363.4:c.454C>T	p.Pro152Ser	p.P152S	ENST00000329363	NM_001014440.3	152	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS43039.1	454	MUTECT|MUSE	.	GCGCGGACCCA	NONE	.	.	hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF6,Pfam_domain:PF07004	.	.	ENSP00000382804	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000329363	Transcript	.	.	ENSG00000177989	34388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.099)	.	tolerated(0.14)	.	ODF3B_HUMAN	ODF3B	HGNC	C9JUR5_HUMAN	.	UPI00001D839A	SNV	ODF3B,missense_variant,p.Pro152Ser,ENST00000428989,;ODF3B,missense_variant,p.Pro84Ser,ENST00000403326,;ODF3B,missense_variant,p.Ser128Phe,ENST00000401779,;ODF3B,missense_variant,p.Ser167Phe,ENST00000405135,;ODF3B,missense_variant,p.Pro152Ser,ENST00000329363,;TYMP,upstream_gene_variant,,ENST00000425169,;TYMP,upstream_gene_variant,,ENST00000252029,;TYMP,upstream_gene_variant,,ENST00000395678,;TYMP,upstream_gene_variant,,ENST00000395681,;SCO2,upstream_gene_variant,,ENST00000423348,;SCO2,upstream_gene_variant,,ENST00000543927,;TYMP,upstream_gene_variant,,ENST00000395680,;ODF3B,downstream_gene_variant,,ENST00000437588,;SCO2,upstream_gene_variant,,ENST00000439934,;SCO2,upstream_gene_variant,,ENST00000535425,;ODF3B,non_coding_transcript_exon_variant,,ENST00000469660,;ODF3B,non_coding_transcript_exon_variant,,ENST00000463472,;ODF3B,non_coding_transcript_exon_variant,,ENST00000468249,;TYMP,upstream_gene_variant,,ENST00000487577,;TYMP,upstream_gene_variant,,ENST00000487162,;TYMP,upstream_gene_variant,,ENST00000476284,;	591	118	89	SUCCESS
CDCA7	83879	.	GRCh37	2	174224163	174224163	+	intron_variant	Intron	SNP	G	G	T	rs751813434	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	122	0	ENST00000347703.3:c.147+598G>T		p.*49*	ENST00000347703	NM_145810.2	110		0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2252.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCGACTCT	NONE	byFrequency	.	hmmpanther:PTHR31169:SF2,hmmpanther:PTHR31169	.	.	ENSP00000306968	.	3/10	.	.	.	.	.	.	.	.	rs751813434	3/10	PASS	ENST00000306721	Transcript	.	.	ENSG00000144354	14628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CDCA7_HUMAN	CDCA7	HGNC	B4DM13_HUMAN	.	UPI0000456EA4	SNV	CDCA7,missense_variant,p.Asp66Tyr,ENST00000410101,;CDCA7,missense_variant,p.Asp110Tyr,ENST00000306721,;CDCA7,intron_variant,,ENST00000392567,;CDCA7,intron_variant,,ENST00000410019,;CDCA7,intron_variant,,ENST00000347703,;AC092573.2,upstream_gene_variant,,ENST00000437243,;CDCA7,3_prime_UTR_variant,,ENST00000435616,;CDCA7,intron_variant,,ENST00000468359,;CDCA7,intron_variant,,ENST00000467411,;CDCA7,intron_variant,,ENST00000496441,;	431	122	98	SUCCESS
TTN	7273	.	GRCh37	2	179435859	179435859	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	49	0	ENST00000591111.1:c.70077T>C	p.Cys23359=	p.C23359=	ENST00000591111		23359	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS59435.1	75000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAACATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	75225	49	36	SUCCESS
ZNF804A	91752	.	GRCh37	2	185800896	185800896	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	59	0	ENST00000302277.6:c.773A>G	p.His258Arg	p.H258R	ENST00000302277	NM_194250.1	258	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2291.1	773	MUTECT|MUSE	.	TTGTCATCTTC	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.His258Arg,ENST00000302277,;	1367	59	72	SUCCESS
NT5C1B	93034	.	GRCh37	2	18765784	18765784	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	30	0	ENST00000359846.2:c.899G>A	p.Trp300Ter	p.W300*	ENST00000359846	NM_001199086.1	300	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS33150.1	899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCAGGGG	NONE	.	.	hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0	.	.	ENSP00000352904	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000359846	Transcript	.	.	ENSG00000185013	17818	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5NT1B_HUMAN	NT5C1B	HGNC	B4DZ86_HUMAN	.	UPI000035B1B0	SNV	NT5C1B,stop_gained,p.Trp300Ter,ENST00000359846,;NT5C1B,stop_gained,p.Trp240Ter,ENST00000304081,;NT5C1B,stop_gained,p.Trp300Ter,ENST00000600945,;NT5C1B-RDH14,stop_gained,p.Trp300Ter,ENST00000532967,;NT5C1B-RDH14,stop_gained,p.Trp242Ter,ENST00000444297,;NT5C1B,upstream_gene_variant,,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	977	30	44	SUCCESS
CPS1	1373	.	GRCh37	2	211512674	211512674	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	52	228	0	ENST00000233072.5:c.3229G>C	p.Gly1077Arg	p.G1077R	ENST00000233072	NM_001875.4	1077	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS46505.1	3247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGGGCACA	NONE	.	.	hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Pfam_domain:PF00289,Gene3D:3.40.50.20,Superfamily_domains:SSF52440	.	.	ENSP00000402608	.	27/39	.	.	.	.	.	.	.	.	.	27/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Gly1083Arg,ENST00000430249,;CPS1,missense_variant,p.Gly1077Arg,ENST00000233072,;CPS1,missense_variant,p.Gly626Arg,ENST00000451903,;CPS1,downstream_gene_variant,,ENST00000497121,;	3302	228	207	SUCCESS
MARCH4	0	.	GRCh37	2	217124227	217124227	+	synonymous_variant	Silent	SNP	C	C	T	rs139359941	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	108	0	ENST00000273067.4:c.1041G>A	p.Ser347=	p.S347=	ENST00000273067	NM_020814.2	347	tcG/tcA	0	T:0	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS33376.1	1041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCGAGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23012:SF51,hmmpanther:PTHR23012	T:0	T:0.0001	ENSP00000273067	T:0	4/4	.	.	.	.	.	.	.	.	rs139359941	4/4	common_in_exac	ENST00000273067	Transcript	.	T:0.0008	ENSG00000144583	29269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0041	.	.	MARH4_HUMAN	MARCH4	HGNC	.	.	UPI00001C1DB9	SNV	MARCH4,synonymous_variant,p.%3D,ENST00000273067,;AC012513.6,upstream_gene_variant,,ENST00000417481,;	2808	108	84	SUCCESS
GOLGB1	2804	.	GRCh37	3	121410667	121410667	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	64	0	ENST00000340645.5:c.7529A>T	p.Glu2510Val	p.E2510V	ENST00000340645	NM_001256487.1	2510	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS58847.1	7544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTCTTTA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,missense_variant,p.Glu2515Val,ENST00000393667,;GOLGB1,missense_variant,p.Glu2510Val,ENST00000340645,;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	7655	64	56	SUCCESS
SLC9A9	285195	.	GRCh37	3	143271227	143271227	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	70	0	ENST00000316549.6:c.1066G>T	p.Asp356Tyr	p.D356Y	ENST00000316549	NM_173653.3	356	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33872.1	1066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCCGAAG	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000320246	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000316549	Transcript	.	.	ENSG00000181804	20653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	SL9A9_HUMAN	SLC9A9	HGNC	.	.	UPI0000074664	SNV	SLC9A9,missense_variant,p.Asp356Tyr,ENST00000316549,;SLC9A9,downstream_gene_variant,,ENST00000483124,;	1275	70	40	SUCCESS
SKIL	6498	.	GRCh37	3	170110171	170110171	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	73	239	0	ENST00000259119.4:c.2021A>T	p.Gln674Leu	p.Q674L	ENST00000259119		674	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33890.1	2021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAAATTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF3	.	.	ENSP00000415243	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000458537	Transcript	.	.	ENSG00000136603	10897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SKIL_HUMAN	SKIL	HGNC	C9J8R9_HUMAN	.	UPI000020A79D	SNV	SKIL,missense_variant,p.Gln674Leu,ENST00000458537,;SKIL,missense_variant,p.Gln674Leu,ENST00000259119,;SKIL,missense_variant,p.Gln628Leu,ENST00000413427,;SKIL,missense_variant,p.Gln654Leu,ENST00000426052,;SKIL,downstream_gene_variant,,ENST00000470571,;	2730	239	223	SUCCESS
CNOT10	25904	.	GRCh37	3	32801028	32801028	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	79	0	ENST00000328834.5:c.1674A>C	p.Lys558Asn	p.K558N	ENST00000328834	NM_015442.2	558	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS58822.1	1854	RADIA|MUTECT|MUSE|VARSCANS	.	GATAAACTTCT	NONE	.	.	hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000399862	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000454516	Transcript	.	.	ENSG00000182973	23817	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.44)	.	CNO10_HUMAN	CNOT10	HGNC	B7Z5B3_HUMAN	.	UPI000206533D	SNV	CNOT10,missense_variant,p.Lys105Asn,ENST00000430408,;CNOT10,missense_variant,p.Lys558Asn,ENST00000328834,;CNOT10,missense_variant,p.Lys531Asn,ENST00000331889,;CNOT10,missense_variant,p.Lys618Asn,ENST00000454516,;CNOT10,missense_variant,p.Lys330Asn,ENST00000538368,;CNOT10,non_coding_transcript_exon_variant,,ENST00000471003,;CNOT10,missense_variant,p.Lys477Asn,ENST00000435630,;CNOT10,3_prime_UTR_variant,,ENST00000416457,;CNOT10,upstream_gene_variant,,ENST00000481526,;CNOT10,upstream_gene_variant,,ENST00000479397,;CNOT10,upstream_gene_variant,,ENST00000468599,;	1931	79	63	SUCCESS
OXSR1	9943	.	GRCh37	3	38263170	38263170	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	6	90	0	ENST00000311806.3:c.592A>G	p.Met198Val	p.M198V	ENST00000311806	NM_005109.2	198	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS2675.1	592	MUTECT|MUSE	.	AAGTTATGGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF202,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000311713	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000311806	Transcript	.	.	ENSG00000172939	8508	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.751)	.	deleterious(0.03)	.	OXSR1_HUMAN	OXSR1	HGNC	.	.	UPI000006E0D0	SNV	OXSR1,missense_variant,p.Met198Val,ENST00000311806,;OXSR1,missense_variant,p.Met198Val,ENST00000446845,;OXSR1,3_prime_UTR_variant,,ENST00000426620,;OXSR1,non_coding_transcript_exon_variant,,ENST00000483695,;	964	90	83	SUCCESS
LRRN1	57633	.	GRCh37	3	3887625	3887625	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1300200167	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	9	133	0	ENST00000319331.3:c.1300C>T	p.Arg434Cys	p.R434C	ENST00000319331	NM_020873.5	434	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS33685.1	1300	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCGTTTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF97,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000314901	.	2/2	.	.	.	.	.	.	.	.	COSM2987134	2/2	PASS	ENST00000319331	Transcript	.	.	ENSG00000175928	20980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.67)	.	deleterious(0.05)	1	LRRN1_HUMAN	LRRN1	HGNC	.	.	UPI0000034CB8	SNV	LRRN1,missense_variant,p.Arg434Cys,ENST00000319331,;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;	2061	133	99	SUCCESS
SETD2	29072	.	GRCh37	3	47163059	47163059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	57	191	0	ENST00000409792.3:c.3067A>G	p.Ser1023Gly	p.S1023G	ENST00000409792	NM_014159.6	1023	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS2749.2	3067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACTGTCAC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Ser1023Gly,ENST00000409792,;SETD2,missense_variant,p.Ser979Gly,ENST00000412450,;SETD2,missense_variant,p.Ser657Gly,ENST00000445387,;SETD2,missense_variant,p.Ser895Gly,ENST00000330022,;SETD2,missense_variant,p.Ser741Gly,ENST00000431180,;	3110	191	163	SUCCESS
RNF123	63891	.	GRCh37	3	49749928	49749930	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	45	0	ENST00000327697.6:c.2513_2515del	p.Ile838_Tyr839delinsAsn	p.I838_Y839delinsN	ENST00000327697	NM_022064.3	838	aTCTac/aac	0	.	.	.	.	.	-	IY/N	protein_coding	YES	CCDS33758.1	2513-2515	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGACATCTACTGG	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	27/39	.	.	.	.	.	.	.	.	.	27/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	deletion	RNF123,inframe_deletion,p.Ile838_Tyr839delinsAsn,ENST00000327697,;RNF123,inframe_deletion,p.Ile692_Tyr693delinsAsn,ENST00000432042,;AMIGO3,downstream_gene_variant,,ENST00000320431,;GMPPB,downstream_gene_variant,,ENST00000480687,;RNF123,upstream_gene_variant,,ENST00000433785,;AMIGO3,downstream_gene_variant,,ENST00000535833,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000444689,;RNF123,upstream_gene_variant,,ENST00000469978,;	2657-2659	45	41	SUCCESS
DCP1A	55802	.	GRCh37	3	53381602	53381602	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	18	0	ENST00000607628.1:c.-58G>T		p.*20*	ENST00000607628	NM_018403.5			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCATCGA	NONE	.	.	.	.	.	ENSP00000475920	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000607628	Transcript	.	.	ENSG00000162290	18714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DCP1A	HGNC	U3KQI9_HUMAN	.	UPI00001AEBBA	SNV	DCP1A,5_prime_UTR_variant,,ENST00000607628,;DCP1A,upstream_gene_variant,,ENST00000606822,;DCP1A,upstream_gene_variant,,ENST00000294241,;DCP1A,non_coding_transcript_exon_variant,,ENST00000560624,;DCP1A,non_coding_transcript_exon_variant,,ENST00000480258,;DCP1A,upstream_gene_variant,,ENST00000560076,;DCP1A,upstream_gene_variant,,ENST00000559748,;DCP1A,upstream_gene_variant,,ENST00000494659,;	53	18	25	SUCCESS
MFSD8	256471	.	GRCh37	4	128851953	128851953	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1429999400	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	11	271	0	ENST00000296468.3:c.883A>G	p.Met295Val	p.M295V	ENST00000296468	NM_152778.2	295	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS3736.1	883	MUTECT|MUSE	.	ATCCATTGTTA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF41,hmmpanther:PTHR24003,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000296468	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000296468	Transcript	1	.	ENSG00000164073	28486	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.547)	.	deleterious(0)	.	MFSD8_HUMAN	MFSD8	HGNC	E7ERQ4_HUMAN	.	UPI000004DAF1	SNV	MFSD8,missense_variant,p.Met250Val,ENST00000513559,;MFSD8,missense_variant,p.Met295Val,ENST00000296468,;MFSD8,3_prime_UTR_variant,,ENST00000541133,;MFSD8,non_coding_transcript_exon_variant,,ENST00000515130,;MFSD8,non_coding_transcript_exon_variant,,ENST00000505284,;MFSD8,3_prime_UTR_variant,,ENST00000509826,;	1011	271	210	SUCCESS
CC2D2A	57545	.	GRCh37	4	15516353	15516353	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	54	0	ENST00000424120.1:c.741T>A	p.Gly247=	p.G247=	ENST00000424120		247	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS47026.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGTGATGA	NONE	.	.	hmmpanther:PTHR20837:SF4,hmmpanther:PTHR20837	.	.	ENSP00000403465	.	9/37	.	.	.	.	.	.	.	.	.	9/37	PASS	ENST00000424120	Transcript	1	.	ENSG00000048342	29253	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2D2A_HUMAN	CC2D2A	HGNC	D6R9V3_HUMAN	.	UPI000023731A	SNV	CC2D2A,synonymous_variant,p.%3D,ENST00000503292,;CC2D2A,synonymous_variant,p.%3D,ENST00000413206,;CC2D2A,synonymous_variant,p.%3D,ENST00000389652,;CC2D2A,synonymous_variant,p.%3D,ENST00000512702,;CC2D2A,synonymous_variant,p.%3D,ENST00000424120,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000513811,;CC2D2A,downstream_gene_variant,,ENST00000514450,;	995	54	47	SUCCESS
WWC2	80014	.	GRCh37	4	184182412	184182412	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	41	0	ENST00000403733.3:c.1636C>G	p.Leu546Val	p.L546V	ENST00000403733	NM_024949.5	546	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS34109.2	1636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCTGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26	.	.	ENSP00000384222	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000403733	Transcript	.	.	ENSG00000151718	24148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	WWC2_HUMAN	WWC2	HGNC	.	.	UPI000022C4C2	SNV	WWC2,missense_variant,p.Leu228Val,ENST00000504005,;WWC2,missense_variant,p.Leu546Val,ENST00000513834,;WWC2,missense_variant,p.Leu448Val,ENST00000378925,;WWC2,missense_variant,p.Leu546Val,ENST00000448232,;WWC2,missense_variant,p.Leu546Val,ENST00000403733,;WWC2,upstream_gene_variant,,ENST00000506225,;WWC2,missense_variant,p.Leu448Val,ENST00000438543,;WWC2,3_prime_UTR_variant,,ENST00000427431,;	1835	41	43	SUCCESS
FAT1	2195	.	GRCh37	4	187557324	187557324	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	78	0	ENST00000441802.2:c.4038C>A	p.Ile1346=	p.I1346=	ENST00000441802	NM_005245.3	1346	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS47177.1	4038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGATCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,synonymous_variant,p.%3D,ENST00000441802,;	4248	78	77	SUCCESS
SPATA18	132671	.	GRCh37	4	52938154	52938154	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376481625	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	22	107	0	ENST00000295213.4:c.590G>T	p.Arg197Leu	p.R197L	ENST00000295213	NM_145263.2	197	cGg/cTg	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS3489.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCGGTCAG	NONE	byCluster	.	hmmpanther:PTHR21771:SF0,hmmpanther:PTHR21771	.	A:0	ENSP00000295213	.	6/13	.	.	.	.	.	.	.	.	rs376481625	6/13	PASS	ENST00000295213	Transcript	.	.	ENSG00000163071	29579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.37)	.	MIEAP_HUMAN	SPATA18	HGNC	.	.	UPI000006FB0D	SNV	SPATA18,missense_variant,p.Arg197Leu,ENST00000295213,;SPATA18,missense_variant,p.Arg165Leu,ENST00000419395,;SPATA18,non_coding_transcript_exon_variant,,ENST00000506829,;SPATA18,intron_variant,,ENST00000514670,;SPATA18,missense_variant,p.Arg197Leu,ENST00000505320,;SPATA18,3_prime_UTR_variant,,ENST00000505038,;SPATA18,3_prime_UTR_variant,,ENST00000508915,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;	964	107	96	SUCCESS
ARL9	132946	.	GRCh37	4	57384922	57384922	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	116	0	ENST00000360096.2:c.95C>A	p.Ser32Ter	p.S32*	ENST00000360096	NM_206919.1	32	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS59474.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATTCAGCAG	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF143,hmmpanther:PTHR11711,Pfam_domain:PF00025,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000353210	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000360096	Transcript	.	.	ENSG00000196503	23592	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL9_HUMAN	ARL9	HGNC	.	.	UPI00001603E1	SNV	ARL9,stop_gained,p.Ser32Ter,ENST00000360096,;	409	116	82	SUCCESS
CABS1	85438	.	GRCh37	4	71201468	71201468	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	53	0	ENST00000273936.5:c.715del	p.Ile239Ter	p.I239*	ENST00000273936	NM_033122.3	238	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS3539.1	712	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGAGAAAATA	BUFFER|p.E241K|c.721G>A|5	.	.	hmmpanther:PTHR22810,Pfam_domain:PF15367	.	.	ENSP00000273936	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000273936	Transcript	.	.	ENSG00000145309	30710	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CABS1_HUMAN	CABS1	HGNC	.	.	UPI0000071735	deletion	CABS1,frameshift_variant,p.Ile239Ter,ENST00000273936,;	786	53	77	SUCCESS
FBN2	2201	.	GRCh37	5	127622452	127622452	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	57	170	0	ENST00000262464.4:c.6970C>T	p.Pro2324Ser	p.P2324S	ENST00000262464	NM_001999.3	2324	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34222.1	6970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGCAGA	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	61/71	.	.	.	.	.	.	.	.	.	61/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.05)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Pro2324Ser,ENST00000262464,;FBN2,missense_variant,p.Pro2324Ser,ENST00000508053,;	7945	170	137	SUCCESS
DNAH5	1767	.	GRCh37	5	13830842	13830842	+	synonymous_variant	Silent	SNP	C	C	T	rs755312532	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	44	0	ENST00000265104.4:c.5925G>A	p.Gly1975=	p.G1975=	ENST00000265104	NM_001369.2	1975	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3882.1	5925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCCCCAT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	36/79	.	.	.	.	.	.	.	.	rs755312532	36/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	6030	44	50	SUCCESS
PCDHB2	56133	.	GRCh37	5	140475012	140475012	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376693798	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	57	0	ENST00000194155.4:c.638C>A	p.Thr213Asn	p.T213N	ENST00000194155	NM_018936.2	213	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS4244.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAACCCTCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF77,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000194155	.	1/1	.	.	.	.	.	.	.	.	rs376693798	1/1	PASS	ENST00000194155	Transcript	.	.	ENSG00000112852	8687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious_low_confidence(0)	.	PCDB2_HUMAN	PCDHB2	HGNC	.	.	UPI00001273DC	SNV	PCDHB2,missense_variant,p.Thr213Asn,ENST00000194155,;AC005754.7,downstream_gene_variant,,ENST00000607216,;	786	57	42	SUCCESS
WWC1	23286	.	GRCh37	5	167857166	167857182	+	frameshift_variant	Frame_Shift_Del	DEL	TGCAATATTAATCATCC	TGCAATATTAATCATCC	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	TGCAATATTAATCATCC	TGCAATATTAATCATCC	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	63	0	ENST00000265293.4:c.2025_2041del	p.Phe675LeufsTer4	p.F675Lfs*4	ENST00000265293	NM_001161662.1	675	ttTGCAATATTAATCATCCag/ttag	0	.	.	.	.	.	-	FAILIIQ/LX	protein_coding	YES	CCDS54945.1	2025-2041	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAATTTGCAATATTAATCATCCAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14791:SF22,hmmpanther:PTHR14791,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000427772	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000521089	Transcript	.	.	ENSG00000113645	29435	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIBRA_HUMAN	WWC1	HGNC	.	.	UPI00017A7149	deletion	WWC1,frameshift_variant,p.Phe637LeufsTer4,ENST00000393895,;WWC1,frameshift_variant,p.Phe1_?7,ENST00000524038,;WWC1,frameshift_variant,p.Phe452LeufsTer4,ENST00000524228,;WWC1,frameshift_variant,p.Phe675LeufsTer4,ENST00000265293,;WWC1,frameshift_variant,p.Phe675LeufsTer4,ENST00000521089,;WWC1,non_coding_transcript_exon_variant,,ENST00000524093,;WWC1,upstream_gene_variant,,ENST00000522140,;	2028-2044	63	42	SUCCESS
TRIM41	90933	.	GRCh37	5	180661549	180661549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs867333362	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	41	128	0	ENST00000315073.5:c.1667G>A	p.Gly556Asp	p.G556D	ENST00000315073	NM_033549.4	556	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4466.1	1667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGGCAAAC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000320869	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.401)	.	deleterious(0.03)	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,missense_variant,p.Gly556Asp,ENST00000315073,;TRIM41,intron_variant,,ENST00000351937,;GNB2L1,downstream_gene_variant,,ENST00000511900,;GNB2L1,downstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000504128,;GNB2L1,downstream_gene_variant,,ENST00000503081,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,downstream_gene_variant,,ENST00000504726,;GNB2L1,downstream_gene_variant,,ENST00000514455,;GNB2L1,downstream_gene_variant,,ENST00000512968,;GNB2L1,downstream_gene_variant,,ENST00000502844,;GNB2L1,downstream_gene_variant,,ENST00000502905,;TRIM41,downstream_gene_variant,,ENST00000515499,;GNB2L1,downstream_gene_variant,,ENST00000507756,;GNB2L1,downstream_gene_variant,,ENST00000376817,;GNB2L1,downstream_gene_variant,,ENST00000509535,;GNB2L1,downstream_gene_variant,,ENST00000511566,;GNB2L1,downstream_gene_variant,,ENST00000507000,;GNB2L1,downstream_gene_variant,,ENST00000510199,;GNB2L1,downstream_gene_variant,,ENST00000512805,;CTC-338M12.7,upstream_gene_variant,,ENST00000499096,;TRIM41,non_coding_transcript_exon_variant,,ENST00000510072,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;TRIM41,intron_variant,,ENST00000503114,;TRIM41,intron_variant,,ENST00000514219,;GNB2L1,downstream_gene_variant,,ENST00000514183,;GNB2L1,downstream_gene_variant,,ENST00000507273,;GNB2L1,downstream_gene_variant,,ENST00000508682,;GNB2L1,downstream_gene_variant,,ENST00000503494,;GNB2L1,downstream_gene_variant,,ENST00000504325,;GNB2L1,downstream_gene_variant,,ENST00000502548,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000508044,;GNB2L1,downstream_gene_variant,,ENST00000506312,;GNB2L1,downstream_gene_variant,,ENST00000513060,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000502890,;GNB2L1,downstream_gene_variant,,ENST00000511473,;	2377	128	102	SUCCESS
FYB	0	.	GRCh37	5	39137761	39137761	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	113	0	ENST00000540520.1:c.1486G>T	p.Glu496Ter	p.E496*	ENST00000540520	NM_001243093.1	496	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS58945.1	1486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF10	.	.	ENSP00000442840	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000540520	Transcript	.	.	ENSG00000082074	4036	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FYB_HUMAN	FYB	HGNC	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	.	UPI00017A75FB	SNV	FYB,stop_gained,p.Glu486Ter,ENST00000515010,;FYB,stop_gained,p.Glu486Ter,ENST00000505428,;FYB,stop_gained,p.Glu486Ter,ENST00000351578,;FYB,stop_gained,p.Glu496Ter,ENST00000540520,;FYB,stop_gained,p.Glu486Ter,ENST00000512982,;	1572	113	81	SUCCESS
LHFPL2	10184	.	GRCh37	5	77805629	77805629	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	53	0	ENST00000380345.2:c.408T>C	p.Cys136=	p.C136=	ENST00000380345	NM_005779.2	136	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS4042.1	408	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCACAGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF2,Pfam_domain:PF10242	.	.	ENSP00000369702	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000380345	Transcript	.	.	ENSG00000145685	6588	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LHPL2_HUMAN	LHFPL2	HGNC	.	.	UPI00001AB0A4	SNV	LHFPL2,synonymous_variant,p.%3D,ENST00000380345,;LHFPL2,synonymous_variant,p.%3D,ENST00000515007,;LHFPL2,downstream_gene_variant,,ENST00000510949,;LHFPL2,downstream_gene_variant,,ENST00000503686,;LHFPL2,downstream_gene_variant,,ENST00000512759,;	1084	53	42	SUCCESS
SMPD2	6610	.	GRCh37	6	109762571	109762571	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	59	0	ENST00000258052.3:c.62A>T	p.Tyr21Phe	p.Y21F	ENST00000258052	NM_003080.2	21	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS5075.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTACTTGA	NONE	.	.	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12393	.	.	ENSP00000258052	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000258052	Transcript	.	.	ENSG00000135587	11121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.21)	.	NSMA_HUMAN	SMPD2	HGNC	.	.	UPI000013CFAC	SNV	SMPD2,missense_variant,p.Tyr21Phe,ENST00000258052,;PPIL6,upstream_gene_variant,,ENST00000440797,;PPIL6,upstream_gene_variant,,ENST00000521072,;PPIL6,upstream_gene_variant,,ENST00000424445,;PPIL6,upstream_gene_variant,,ENST00000520723,;MICAL1,downstream_gene_variant,,ENST00000358807,;SMPD2,upstream_gene_variant,,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000417394,;PPIL6,upstream_gene_variant,,ENST00000518648,;MICAL1,downstream_gene_variant,,ENST00000358577,;MICAL1,downstream_gene_variant,,ENST00000368952,;PPIL6,upstream_gene_variant,,ENST00000447468,;MICAL1,downstream_gene_variant,,ENST00000456101,;MICAL1,downstream_gene_variant,,ENST00000465904,;SMPD2,upstream_gene_variant,,ENST00000439615,;	421	59	49	SUCCESS
TAAR2	9287	.	GRCh37	6	132938436	132938436	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	44	191	0	ENST00000367931.1:c.909T>C	p.Phe303=	p.F303=	ENST00000367931		303	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS34541.1	909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCAAACCA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24249:SF30,hmmpanther:PTHR24249,PROSITE_profiles:PS50262	.	.	ENSP00000356908	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367931	Transcript	.	.	ENSG00000146378	4514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAAR2_HUMAN	TAAR2	HGNC	.	.	UPI000048F3E6	SNV	TAAR2,synonymous_variant,p.%3D,ENST00000537809,;TAAR2,synonymous_variant,p.%3D,ENST00000367931,;TAAR2,synonymous_variant,p.%3D,ENST00000275191,;	909	191	127	SUCCESS
OPRM1	4988	.	GRCh37	6	154360707	154360707	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	73	0	ENST00000330432.7:c.28G>T	p.Ala10Ser	p.A10S	ENST00000330432	NM_000914.3	10	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47503.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAACGCCAGC	NONE	.	.	.	.	.	ENSP00000394624	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated_low_confidence(0.15)	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Ala58Ser,ENST00000520282,;OPRM1,missense_variant,p.Ala10Ser,ENST00000337049,;OPRM1,missense_variant,p.Ala10Ser,ENST00000428397,;OPRM1,missense_variant,p.Ala10Ser,ENST00000360422,;OPRM1,missense_variant,p.Ala10Ser,ENST00000452687,;OPRM1,missense_variant,p.Ala10Ser,ENST00000330432,;OPRM1,missense_variant,p.Ala10Ser,ENST00000435918,;OPRM1,missense_variant,p.Ala10Ser,ENST00000414028,;OPRM1,missense_variant,p.Ala10Ser,ENST00000419506,;OPRM1,missense_variant,p.Ala103Ser,ENST00000434900,;OPRM1,missense_variant,p.Ala10Ser,ENST00000524163,;OPRM1,missense_variant,p.Ala10Ser,ENST00000229768,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,non_coding_transcript_exon_variant,,ENST00000523520,;OPRM1,missense_variant,p.Ala10Ser,ENST00000522739,;OPRM1,missense_variant,p.Ala10Ser,ENST00000519083,;OPRM1,missense_variant,p.Ala10Ser,ENST00000524150,;	825	73	91	SUCCESS
OPRM1	4988	.	GRCh37	6	154360708	154360708	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763117342	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	73	0	ENST00000330432.7:c.29C>T	p.Ala10Val	p.A10V	ENST00000330432	NM_000914.3	10	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47503.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGCCAGCA	NONE	.	.	.	.	.	ENSP00000394624	.	3/6	.	.	.	.	.	.	.	.	rs763117342	3/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated_low_confidence(0.1)	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Ala58Val,ENST00000520282,;OPRM1,missense_variant,p.Ala10Val,ENST00000337049,;OPRM1,missense_variant,p.Ala10Val,ENST00000428397,;OPRM1,missense_variant,p.Ala10Val,ENST00000360422,;OPRM1,missense_variant,p.Ala10Val,ENST00000452687,;OPRM1,missense_variant,p.Ala10Val,ENST00000330432,;OPRM1,missense_variant,p.Ala10Val,ENST00000435918,;OPRM1,missense_variant,p.Ala10Val,ENST00000414028,;OPRM1,missense_variant,p.Ala10Val,ENST00000419506,;OPRM1,missense_variant,p.Ala103Val,ENST00000434900,;OPRM1,missense_variant,p.Ala10Val,ENST00000524163,;OPRM1,missense_variant,p.Ala10Val,ENST00000229768,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,non_coding_transcript_exon_variant,,ENST00000523520,;OPRM1,missense_variant,p.Ala10Val,ENST00000522739,;OPRM1,missense_variant,p.Ala10Val,ENST00000519083,;OPRM1,missense_variant,p.Ala10Val,ENST00000524150,;	826	73	91	SUCCESS
EHMT2	10919	.	GRCh37	6	31860513	31860513	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	88	0	ENST00000375537.4:c.668-2A>T		p.X223_splice	ENST00000375537	NM_006709.3	223		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4725.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTGGAAG	NONE	.	.	.	.	.	ENSP00000364687	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375537	Transcript	.	.	ENSG00000204371	14129	.	.	HIGH	5/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHMT2_HUMAN	EHMT2	HGNC	.	.	UPI000013D085	SNV	EHMT2,splice_acceptor_variant,,ENST00000375537,;EHMT2,splice_acceptor_variant,,ENST00000375528,;EHMT2,splice_acceptor_variant,,ENST00000395728,;EHMT2,splice_acceptor_variant,,ENST00000375530,;EHMT2,splice_acceptor_variant,,ENST00000480912,;EHMT2,splice_acceptor_variant,,ENST00000463484,;EHMT2,downstream_gene_variant,,ENST00000465429,;	.	88	62	SUCCESS
KMT2E	55904	.	GRCh37	7	104753453	104753453	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	67	209	0	ENST00000257745.4:c.5250T>G	p.Phe1750Leu	p.F1750L	ENST00000257745	NM_018682.3	1750	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS34723.1	5250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTCCTTC	NONE	.	.	.	.	.	ENSP00000312379	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious_low_confidence(0)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Phe1750Leu,ENST00000257745,;KMT2E,missense_variant,p.Phe1750Leu,ENST00000311117,;KMT2E,missense_variant,p.Phe1708Leu,ENST00000334877,;KMT2E,downstream_gene_variant,,ENST00000473063,;SRPK2,downstream_gene_variant,,ENST00000474770,;KMT2E,downstream_gene_variant,,ENST00000334914,;SRPK2,downstream_gene_variant,,ENST00000393651,;SRPK2,downstream_gene_variant,,ENST00000489828,;SRPK2,downstream_gene_variant,,ENST00000477925,;SRPK2,downstream_gene_variant,,ENST00000357311,;SRPK2,intron_variant,,ENST00000493638,;SRPK2,downstream_gene_variant,,ENST00000485455,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;SRPK2,downstream_gene_variant,,ENST00000466917,;KMT2E,downstream_gene_variant,,ENST00000478079,;SRPK2,downstream_gene_variant,,ENST00000465072,;	5795	209	246	SUCCESS
C7orf73	0	.	GRCh37	7	135347269	135347269	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	32	0	ENST00000507606.1:c.-59G>A		p.*20*	ENST00000507606	NM_001130929.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55168.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGGACCGG	NONE	.	.	.	.	.	ENSP00000425996	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000507606	Transcript	.	.	ENSG00000243317	41909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG073_HUMAN	C7orf73	HGNC	.	.	UPI000020FB70	SNV	C7orf73,5_prime_UTR_variant,,ENST00000507606,;RNU6-1154P,downstream_gene_variant,,ENST00000391001,;C7orf73,non_coding_transcript_exon_variant,,ENST00000509448,;C7orf73,upstream_gene_variant,,ENST00000422968,;C7orf73,non_coding_transcript_exon_variant,,ENST00000515197,;AC093107.7,downstream_gene_variant,,ENST00000431303,;AC093107.7,downstream_gene_variant,,ENST00000422772,;	1	32	41	SUCCESS
TRPV6	55503	.	GRCh37	7	142574898	142574899	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	61	0	ENST00000359396.3:c.483_484del	p.Phe162TrpfsTer14	p.F162Wfs*14	ENST00000359396	NM_018646.4	161	taCTtt/tatt	0	.	.	.	.	.	-	YF/YX	protein_coding	YES	CCDS5874.1	483-484	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCAAAGTAGAT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000352358	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000359396	Transcript	.	.	ENSG00000165125	14006	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRPV6_HUMAN	TRPV6	HGNC	Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN	.	UPI000000D91B	deletion	TRPV6,frameshift_variant,p.Phe162TrpfsTer14,ENST00000359396,;TRPV6,intron_variant,,ENST00000436401,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,non_coding_transcript_exon_variant,,ENST00000489123,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,upstream_gene_variant,,ENST00000463646,;TRPV6,upstream_gene_variant,,ENST00000485138,;TRPV6,upstream_gene_variant,,ENST00000474388,;	729-730	61	93	SUCCESS
TMEM184A	202915	.	GRCh37	7	1589783	1589783	+	synonymous_variant	Silent	SNP	G	G	T	rs139449337	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	33	0	ENST00000297477.5:c.528C>A	p.Ile176=	p.I176=	ENST00000297477	NM_001097620.1	176	atC/atA	0	A:0.0081	A:0.0098	.	A:0.0014	.	T	I	protein_coding	YES	CCDS43537.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGATGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20,Pfam_domain:PF03619	A:0	A:0.0002	ENSP00000297477	A:0	5/9	.	.	.	.	.	.	.	.	rs139449337	5/9	PASS	ENST00000297477	Transcript	.	A:0.0028	ENSG00000164855	28797	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	T184A_HUMAN	TMEM184A	HGNC	C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN	.	UPI000013E413	SNV	TMEM184A,synonymous_variant,p.%3D,ENST00000297477,;TMEM184A,synonymous_variant,p.%3D,ENST00000319010,;TMEM184A,downstream_gene_variant,,ENST00000441933,;TMEM184A,downstream_gene_variant,,ENST00000431208,;TMEM184A,downstream_gene_variant,,ENST00000414730,;TMEM184A,upstream_gene_variant,,ENST00000449955,;TMEM184A,upstream_gene_variant,,ENST00000421996,;TMEM184A,3_prime_UTR_variant,,ENST00000421923,;TMEM184A,non_coding_transcript_exon_variant,,ENST00000474813,;TMEM184A,non_coding_transcript_exon_variant,,ENST00000468535,;TMEM184A,intron_variant,,ENST00000319018,;	845	33	22	SUCCESS
SUGCT	79783	.	GRCh37	7	40535937	40535937	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	74	0	ENST00000335693.4:c.1062C>A	p.Val354=	p.V354=	ENST00000335693	NM_001193313.1	354	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55104.1	1062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCCCGTA	NONE	.	.	hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6,Gene3D:3.40.50.10540,Superfamily_domains:SSF89796	.	.	ENSP00000312054	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000309930	Transcript	.	.	ENSG00000175600	16001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUCHY_HUMAN	SUGCT	HGNC	Q9Y6U8_HUMAN,Q75MU8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN	.	UPI000013EF6B	SNV	SUGCT,synonymous_variant,p.%3D,ENST00000309930,;SUGCT,synonymous_variant,p.%3D,ENST00000335693,;SUGCT,synonymous_variant,p.%3D,ENST00000416370,;SUGCT,synonymous_variant,p.%3D,ENST00000401647,;	1086	74	69	SUCCESS
PDK4	5166	.	GRCh37	7	95216812	95216812	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs751310466	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	107	0	ENST00000005178.5:c.899T>G	p.Leu300Arg	p.L300R	ENST00000005178	NM_002612.3	300	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5643.1	899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGGGGA	NONE	byFrequency	.	Superfamily_domains:SSF55874,SMART_domains:SM00387,Pfam_domain:PF02518,Gene3D:3.30.565.10,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF17,PROSITE_profiles:PS50109	.	.	ENSP00000005178	.	9/11	.	.	.	.	.	.	.	.	rs751310466	9/11	PASS	ENST00000005178	Transcript	.	.	ENSG00000004799	8812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	tolerated(0.72)	.	PDK4_HUMAN	PDK4	HGNC	B3KUX1_HUMAN,B3KU25_HUMAN,A4D1H4_HUMAN	.	UPI000000D984	SNV	PDK4,missense_variant,p.Leu300Arg,ENST00000005178,;PDK4,non_coding_transcript_exon_variant,,ENST00000473796,;PDK4,non_coding_transcript_exon_variant,,ENST00000468445,;PDK4,non_coding_transcript_exon_variant,,ENST00000498190,;	1097	107	117	SUCCESS
CYP3A4	1576	.	GRCh37	7	99381763	99381763	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	35	0	ENST00000336411.2:c.-59A>G		p.*20*	ENST00000336411	NM_001202855.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5674.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTTTGCT	NONE	.	.	.	.	.	ENSP00000337915	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000336411	Transcript	.	.	ENSG00000160868	2637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP3A4_HUMAN	CYP3A4	HGNC	Q9BZM0_HUMAN,Q7Z448_HUMAN,Q6GRK0_HUMAN,B4DPQ5_HUMAN	.	UPI000013E0B7	SNV	CYP3A4,5_prime_UTR_variant,,ENST00000415003,;CYP3A4,5_prime_UTR_variant,,ENST00000354593,;CYP3A4,5_prime_UTR_variant,,ENST00000336411,;CYP3A4,upstream_gene_variant,,ENST00000480043,;	126	35	42	SUCCESS
ADAMDEC1	27299	.	GRCh37	8	24254788	24254788	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1440121047	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	80	0	ENST00000256412.4:c.446A>G	p.Tyr149Cys	p.Y149C	ENST00000256412	NM_014479.3	149	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6044.1	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATACTTCA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125,Pfam_domain:PF01562	.	.	ENSP00000256412	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000256412	Transcript	.	.	ENSG00000134028	16299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	deleterious(0.01)	.	ADEC1_HUMAN	ADAMDEC1	HGNC	B7Z6U5_HUMAN	.	UPI0000073385	SNV	ADAMDEC1,missense_variant,p.Tyr149Cys,ENST00000256412,;ADAMDEC1,missense_variant,p.Tyr70Cys,ENST00000538205,;ADAMDEC1,missense_variant,p.Tyr70Cys,ENST00000522298,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	666	80	37	SUCCESS
RAD54B	25788	.	GRCh37	8	95404076	95404077	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	69	0	ENST00000336148.5:c.1569_1570del	p.Gly524ThrfsTer5	p.G524Tfs*5	ENST00000336148	NM_012415.3	523	acTGga/acga	0	.	.	.	.	.	-	TG/TX	protein_coding	YES	CCDS6262.1	1569-1570	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGTCCAGTGAG	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568	.	.	ENSP00000336606	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000336148	Transcript	.	.	ENSG00000197275	17228	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RA54B_HUMAN	RAD54B	HGNC	E5RHN9_HUMAN	.	UPI0000070088	deletion	RAD54B,frameshift_variant,p.Gly524ThrfsTer5,ENST00000336148,;RAD54B,3_prime_UTR_variant,,ENST00000463267,;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,upstream_gene_variant,,ENST00000518358,;RAD54B,downstream_gene_variant,,ENST00000523192,;	1694-1695	69	56	SUCCESS
C9orf84	0	.	GRCh37	9	114469021	114469021	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	49	0	ENST00000374287.3:c.2372G>C	p.Ser791Thr	p.S791T	ENST00000374287		791	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS6781.3	2372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACTTGTA	NONE	.	.	.	.	.	ENSP00000363405	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000374287	Transcript	.	.	ENSG00000165181	26535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	tolerated(0.37)	.	CI084_HUMAN	C9orf84	HGNC	.	.	UPI0000458916	SNV	C9orf84,missense_variant,p.Ser791Thr,ENST00000318737,;C9orf84,missense_variant,p.Ser791Thr,ENST00000374287,;C9orf84,missense_variant,p.Ser752Thr,ENST00000394779,;C9orf84,missense_variant,p.Ser717Thr,ENST00000394777,;	2633	49	34	SUCCESS
IFNE	338376	.	GRCh37	9	21481103	21481103	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	102	0	ENST00000448696.3:c.591G>A	p.Lys197=	p.K197=	ENST00000448696	NM_176891.4	197	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS34997.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCTTCAT	NONE	.	.	.	.	.	ENSP00000418018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000448696	Transcript	.	.	ENSG00000184995	18163	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNE_HUMAN	IFNE	HGNC	.	.	UPI000000D8A7	SNV	IFNE,synonymous_variant,p.%3D,ENST00000448696,;MIR31HG,intron_variant,,ENST00000304425,;	1210	102	73	SUCCESS
CAAP1	79886	.	GRCh37	9	26892425	26892425	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs745984338	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	23	0	ENST00000333916.5:c.289G>C	p.Gly97Arg	p.G97R	ENST00000333916	NM_024828.3	97	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS6516.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCGAGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14740	.	.	ENSP00000369431	.	1/6	.	.	.	.	.	.	.	.	rs745984338	1/6	PASS	ENST00000333916	Transcript	.	.	ENSG00000120159	25834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	CAAP1_HUMAN	CAAP1	HGNC	.	.	UPI000013D280	SNV	CAAP1,missense_variant,p.Gly97Arg,ENST00000333916,;CAAP1,missense_variant,p.Gly97Arg,ENST00000520187,;CAAP1,upstream_gene_variant,,ENST00000535437,;RN7SL100P,upstream_gene_variant,,ENST00000460565,;CAAP1,non_coding_transcript_exon_variant,,ENST00000495958,;CAAP1,upstream_gene_variant,,ENST00000517946,;CAAP1,missense_variant,p.Gly97Arg,ENST00000483493,;	378	23	24	SUCCESS
TOPORS	10210	.	GRCh37	9	32543942	32543942	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	94	0	ENST00000360538.2:c.581C>G	p.Ser194Ter	p.S194*	ENST00000360538	NM_005802.4	194	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS6527.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTGAATAC	NONE	.	.	hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456	.	.	ENSP00000353735	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,stop_gained,p.Ser194Ter,ENST00000360538,;TOPORS,stop_gained,p.Ser129Ter,ENST00000379858,;AL353671.2,upstream_gene_variant,,ENST00000359975,;AL353671.1,downstream_gene_variant,,ENST00000366355,;	698	94	97	SUCCESS
FRMPD4	9758	.	GRCh37	X	12157090	12157090	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	82	0	ENST00000380682.1:c.-1C>T		p.*1*	ENST00000380682	NM_014728.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35201.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCATGGA	NONE	.	.	.	.	.	ENSP00000370057	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,5_prime_UTR_variant,,ENST00000380682,;	506	82	82	SUCCESS
STAG2	10735	.	GRCh37	X	123176443	123176451	+	inframe_deletion	In_Frame_Del	DEL	GACATATGC	GACATATGC	-	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	GACATATGC	GACATATGC	.	.	.	.	.	.	.	.	.	.	.	.	.	254	79	420	0	ENST00000218089.9:c.410_418del	p.Arg137_Gln140delinsLys	p.R137_Q140delinsK	ENST00000218089	NM_001042749.1	137	aGACATATGCag/aag	0	.	.	.	.	.	-	RHMQ/K	protein_coding	YES	CCDS43990.1	410-418	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTTAGACATATGCAGAAC	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	.	.	ENSP00000218089	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	deletion	STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000435215,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000371160,;STAG2,inframe_deletion,p.Arg68_Gln71delinsLys,ENST00000354548,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000371157,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000371144,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000428941,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000435103,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000455404,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000218089,;STAG2,inframe_deletion,p.Arg137_Gln140delinsLys,ENST00000371145,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;STAG2,3_prime_UTR_variant,,ENST00000458176,;	920-928	420	333	SUCCESS
GPC3	2719	.	GRCh37	X	132887923	132887923	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	9	187	0	ENST00000370818.3:c.618A>C	p.Lys206Asn	p.K206N	ENST00000370818	NM_001164618.1	206	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS55496.1	618	MUTECT|MUSE	.	AATACTTTCAG	NONE	.	.	Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF4	.	.	ENSP00000377836	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000394299	Transcript	.	.	ENSG00000147257	4451	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.254)	.	tolerated(0.65)	.	GPC3_HUMAN	GPC3	HGNC	.	.	UPI00015E044A	SNV	GPC3,missense_variant,p.Lys206Asn,ENST00000394299,;GPC3,missense_variant,p.Lys206Asn,ENST00000370818,;GPC3,missense_variant,p.Lys152Asn,ENST00000543339,;GPC3,upstream_gene_variant,,ENST00000406757,;	815	187	180	SUCCESS
NHS	4810	.	GRCh37	X	17746802	17746802	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	88	221	0	ENST00000380060.3:c.4193C>T	p.Pro1398Leu	p.P1398L	ENST00000380060	NM_198270.2	1398	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS14181.1	4193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCACTTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039	.	.	ENSP00000369400	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000380060	Transcript	.	.	ENSG00000188158	7820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	NHS_HUMAN	NHS	HGNC	.	.	UPI00001DFBF3	SNV	NHS,missense_variant,p.Pro1398Leu,ENST00000380060,;NHS,missense_variant,p.Pro1242Leu,ENST00000398097,;NHS,downstream_gene_variant,,ENST00000485305,;	4531	221	224	SUCCESS
CNKSR2	22866	.	GRCh37	X	21515935	21515935	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	15	286	0	ENST00000379510.3:c.712C>A	p.Leu238Ile	p.L238I	ENST00000379510	NM_014927.3	238	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS14198.1	712	MUTECT|MUSE	.	ATGGCCTCCAT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000368824	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000379510	Transcript	.	.	ENSG00000149970	19701	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.106)	.	deleterious(0)	.	CNKR2_HUMAN	CNKSR2	HGNC	.	.	UPI0000070D72	SNV	CNKSR2,missense_variant,p.Leu238Ile,ENST00000379510,;CNKSR2,missense_variant,p.Leu238Ile,ENST00000425654,;CNKSR2,missense_variant,p.Leu238Ile,ENST00000543067,;CNKSR2,missense_variant,p.Leu238Ile,ENST00000279451,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000479158,;	748	286	262	SUCCESS
WDR45	11152	.	GRCh37	X	48933031	48933031	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	34	135	0	ENST00000376372.3:c.819C>T	p.Arg273=	p.R273=	ENST00000376372	NM_001029896.1	273	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS14318.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGCGGTT	NONE	.	.	hmmpanther:PTHR11227:SF26,hmmpanther:PTHR11227	.	.	ENSP00000348848	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000356463	Transcript	.	.	ENSG00000196998	28912	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPI4_HUMAN	WDR45	HGNC	C9J7Q8_HUMAN	.	UPI000035B01F	SNV	WDR45,synonymous_variant,p.%3D,ENST00000367375,;AF196779.12,synonymous_variant,p.%3D,ENST00000376358,;WDR45,synonymous_variant,p.%3D,ENST00000475977,;WDR45,synonymous_variant,p.%3D,ENST00000322995,;WDR45,synonymous_variant,p.%3D,ENST00000396681,;WDR45,synonymous_variant,p.%3D,ENST00000376372,;WDR45,synonymous_variant,p.%3D,ENST00000485908,;WDR45,synonymous_variant,p.%3D,ENST00000356463,;WDR45,synonymous_variant,p.%3D,ENST00000376368,;WDR45,synonymous_variant,p.%3D,ENST00000553851,;WDR45,intron_variant,,ENST00000473974,;WDR45,downstream_gene_variant,,ENST00000419567,;WDR45,upstream_gene_variant,,ENST00000486337,;WDR45,downstream_gene_variant,,ENST00000476728,;WDR45,downstream_gene_variant,,ENST00000465382,;PRAF2,upstream_gene_variant,,ENST00000376390,;WDR45,downstream_gene_variant,,ENST00000474053,;WDR45,downstream_gene_variant,,ENST00000423215,;WDR45,downstream_gene_variant,,ENST00000471338,;PRAF2,upstream_gene_variant,,ENST00000376386,;WDR45,downstream_gene_variant,,ENST00000475880,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,downstream_gene_variant,,ENST00000465431,;WDR45,non_coding_transcript_exon_variant,,ENST00000465806,;WDR45,non_coding_transcript_exon_variant,,ENST00000480412,;WDR45,non_coding_transcript_exon_variant,,ENST00000433252,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,downstream_gene_variant,,ENST00000472654,;	1261	135	108	SUCCESS
FAM46D	0	.	GRCh37	X	79698133	79698133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	49	178	0	ENST00000538312.1:c.95A>T	p.Asn32Ile	p.N32I	ENST00000538312	NM_001170574.1	32	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS14446.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAATTTCC	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,missense_variant,p.Asn32Ile,ENST00000308293,;FAM46D,missense_variant,p.Asn32Ile,ENST00000538312,;	429	178	131	SUCCESS
FAM24A	118670	.	GRCh37	10	124672364	124672364	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	71	0	ENST00000368894.1:c.212C>G	p.Thr71Ser	p.T71S	ENST00000368894	NM_001029888.1	71	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS31304.1	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACCACCA	NONE	.	.	Pfam_domain:PF15193	.	.	ENSP00000357889	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368894	Transcript	.	.	ENSG00000203795	23470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.56)	.	FA24A_HUMAN	FAM24A	HGNC	.	.	UPI0000160DCE	SNV	FAM24A,missense_variant,p.Thr71Ser,ENST00000368894,;	333	71	88	SUCCESS
SKIDA1	387640	.	GRCh37	10	21807691	21807691	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	29	67	0	ENST00000449193.2:c.-940C>A		p.*314*	ENST00000449193	NM_207371.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44363.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGAAGGA	NONE	.	.	.	.	.	ENSP00000410041	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000449193	Transcript	.	.	ENSG00000180592	32697	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SKIDA1	HGNC	E9PAX1_HUMAN	.	UPI00015386B3	SNV	SKIDA1,5_prime_UTR_variant,,ENST00000449193,;SKIDA1,upstream_gene_variant,,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	1314	67	167	SUCCESS
COMMD3	23412	.	GRCh37	10	22607754	22607754	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	55	144	0	ENST00000376836.3:c.431T>G	p.Met144Arg	p.M144R	ENST00000376836	NM_012071.3	144	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS7137.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGATGTACA	NONE	.	.	PROSITE_profiles:PS51269,hmmpanther:PTHR31159:SF1,hmmpanther:PTHR31159,Pfam_domain:PF07258	.	.	ENSP00000366032	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000376836	Transcript	.	.	ENSG00000148444	23332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.629)	.	deleterious(0.01)	.	COMD3_HUMAN	COMMD3	HGNC	.	.	UPI000006F319	SNV	COMMD3,missense_variant,p.Met39Arg,ENST00000471350,;COMMD3,missense_variant,p.Met112Arg,ENST00000456711,;COMMD3,missense_variant,p.Met144Arg,ENST00000376836,;COMMD3,missense_variant,p.Met98Arg,ENST00000448361,;COMMD3-BMI1,intron_variant,,ENST00000602390,;COMMD3,intron_variant,,ENST00000444869,;COMMD3-BMI1,intron_variant,,ENST00000475460,;COMMD3-BMI1,intron_variant,,ENST00000489125,;BMI1,upstream_gene_variant,,ENST00000442508,;BMI1,upstream_gene_variant,,ENST00000376663,;COMMD3,non_coding_transcript_exon_variant,,ENST00000483684,;COMMD3-BMI1,non_coding_transcript_exon_variant,,ENST00000463409,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468469,;COMMD3,downstream_gene_variant,,ENST00000472673,;COMMD3,non_coding_transcript_exon_variant,,ENST00000463688,;COMMD3,non_coding_transcript_exon_variant,,ENST00000496071,;COMMD3,non_coding_transcript_exon_variant,,ENST00000479958,;COMMD3,non_coding_transcript_exon_variant,,ENST00000602574,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468179,;COMMD3-BMI1,non_coding_transcript_exon_variant,,ENST00000602395,;COMMD3-BMI1,intron_variant,,ENST00000417470,;COMMD3,downstream_gene_variant,,ENST00000470045,;BMI1,upstream_gene_variant,,ENST00000602523,;COMMD3,downstream_gene_variant,,ENST00000472610,;BMI1,upstream_gene_variant,,ENST00000456675,;	875	144	287	SUCCESS
IL10RA	3587	.	GRCh37	11	117864027	117864027	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs761828743	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	45	0	ENST00000227752.3:c.439A>T	p.Arg147Trp	p.R147W	ENST00000227752	NM_001558.3	147	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS8388.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCAGGCCC	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	.	.	ENSP00000227752	.	4/7	.	.	.	.	.	.	.	.	rs761828743	4/7	PASS	ENST00000227752	Transcript	.	.	ENSG00000110324	5964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	I10R1_HUMAN	IL10RA	HGNC	F5H5Y4_HUMAN	.	UPI000013C8BF	SNV	IL10RA,missense_variant,p.Arg147Trp,ENST00000227752,;IL10RA,missense_variant,p.Arg127Trp,ENST00000541785,;IL10RA,5_prime_UTR_variant,,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,non_coding_transcript_exon_variant,,ENST00000534335,;IL10RA,missense_variant,p.Gln87Leu,ENST00000526544,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530178,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,non_coding_transcript_exon_variant,,ENST00000532009,;IL10RA,upstream_gene_variant,,ENST00000525467,;IL10RA,downstream_gene_variant,,ENST00000531365,;	559	45	56	SUCCESS
TRIM29	23650	.	GRCh37	11	120008342	120008342	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1027431435	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	37	0	ENST00000341846.5:c.398C>T	p.Ser133Leu	p.S133L	ENST00000341846	NM_012101.3	133	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS8428.1	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGAGAAA	NONE	.	.	.	.	.	ENSP00000343129	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000341846	Transcript	.	.	ENSG00000137699	17274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0)	.	TRI29_HUMAN	TRIM29	HGNC	E9PM74_HUMAN,E9PLI4_HUMAN,E9PJ94_HUMAN,E9PIQ2_HUMAN,E9PI31_HUMAN,B7Z5V8_HUMAN	.	UPI0000073FDE	SNV	TRIM29,missense_variant,p.Ser133Leu,ENST00000341846,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,synonymous_variant,p.%3D,ENST00000475051,;	820	37	25	SUCCESS
OR8A1	390275	.	GRCh37	11	124440804	124440804	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	71	0	ENST00000284287.3:c.840A>C	p.Thr280=	p.T280=	ENST00000284287	NM_001005194.1	280	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31712.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACAATCAG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF49,PROSITE_profiles:PS50262	.	.	ENSP00000284287	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000284287	Transcript	.	.	ENSG00000196119	8469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8A1_HUMAN	OR8A1	HGNC	.	.	UPI00003B286D	SNV	OR8A1,synonymous_variant,p.%3D,ENST00000284287,;	912	71	81	SUCCESS
CHRM4	1132	.	GRCh37	11	46407538	46407538	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	34	67	0	ENST00000433765.2:c.570G>C	p.Leu190=	p.L190=	ENST00000433765	NM_000741.2	190	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS44581.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGACAGGAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF60,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00243	.	.	ENSP00000409378	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000433765	Transcript	.	.	ENSG00000180720	1953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM4_HUMAN	CHRM4	HGNC	.	.	UPI00001252BB	SNV	CHRM4,synonymous_variant,p.%3D,ENST00000433765,;MDK,downstream_gene_variant,,ENST00000395565,;MDK,downstream_gene_variant,,ENST00000407067,;MDK,downstream_gene_variant,,ENST00000359803,;MDK,downstream_gene_variant,,ENST00000405308,;MDK,downstream_gene_variant,,ENST00000533952,;MDK,downstream_gene_variant,,ENST00000441869,;MDK,downstream_gene_variant,,ENST00000395566,;MDK,downstream_gene_variant,,ENST00000395569,;MDK,downstream_gene_variant,,ENST00000533283,;MDK,downstream_gene_variant,,ENST00000481047,;MDK,downstream_gene_variant,,ENST00000489525,;MDK,downstream_gene_variant,,ENST00000490240,;	570	67	71	SUCCESS
OR9G4	283189	.	GRCh37	11	56510613	56510613	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	50	0	ENST00000302957.3:c.675C>A	p.Ser225Arg	p.S225R	ENST00000302957	NM_001005284.1	225	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS31537.1	675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGCTGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF141,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000307515	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302957	Transcript	.	.	ENSG00000172457	15322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.529)	.	deleterious(0.02)	.	OR9G4_HUMAN	OR9G4	HGNC	.	.	UPI00001D77DB	SNV	OR9G4,missense_variant,p.Ser225Arg,ENST00000302957,;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;	675	50	46	SUCCESS
EML3	256364	.	GRCh37	11	62373664	62373664	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	60	0	ENST00000394773.2:c.1527G>A	p.Gln509=	p.Q509=	ENST00000394773	NM_153265.2	509	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8023.2	1527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCCTGGGC	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF15,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000378254	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000394773	Transcript	.	.	ENSG00000149499	26666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMAL3_HUMAN	EML3	HGNC	G3V195_HUMAN,E9PJV5_HUMAN,C9J6V3_HUMAN	.	UPI0000228E33	SNV	EML3,synonymous_variant,p.%3D,ENST00000278845,;EML3,synonymous_variant,p.%3D,ENST00000494176,;EML3,synonymous_variant,p.%3D,ENST00000394773,;EML3,synonymous_variant,p.%3D,ENST00000529309,;EML3,synonymous_variant,p.%3D,ENST00000394776,;EML3,synonymous_variant,p.%3D,ENST00000531557,;MTA2,upstream_gene_variant,,ENST00000527204,;MTA2,upstream_gene_variant,,ENST00000278823,;EML3,downstream_gene_variant,,ENST00000419857,;EML3,downstream_gene_variant,,ENST00000466671,;EML3,upstream_gene_variant,,ENST00000439994,;EML3,downstream_gene_variant,,ENST00000466886,;RP11-831H9.3,non_coding_transcript_exon_variant,,ENST00000532626,;EML3,non_coding_transcript_exon_variant,,ENST00000438258,;EML3,3_prime_UTR_variant,,ENST00000494448,;EML3,non_coding_transcript_exon_variant,,ENST00000460939,;EML3,non_coding_transcript_exon_variant,,ENST00000526116,;EML3,non_coding_transcript_exon_variant,,ENST00000462626,;EML3,non_coding_transcript_exon_variant,,ENST00000483199,;EML3,upstream_gene_variant,,ENST00000533165,;EML3,upstream_gene_variant,,ENST00000524518,;MTA2,upstream_gene_variant,,ENST00000526844,;	1835	60	60	SUCCESS
DCHS1	8642	.	GRCh37	11	6661102	6661102	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	56	1	ENST00000299441.3:c.1743T>C	p.Thr581=	p.T581=	ENST00000299441	NM_003737.2	581	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS7771.1	1743	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGAAAGTCCT	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,synonymous_variant,p.%3D,ENST00000299441,;RP11-732A19.6,downstream_gene_variant,,ENST00000526633,;	2155	57	43	SUCCESS
KIAA1731	0	.	GRCh37	11	93402866	93402866	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	57	0	ENST00000325212.6:c.458C>T	p.Ala153Val	p.A153V	ENST00000325212		153	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44708.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCACTGC	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.04)	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,missense_variant,p.Ala153Val,ENST00000325212,;KIAA1731,missense_variant,p.Ala153Val,ENST00000411936,;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;	620	57	61	SUCCESS
LRRC43	254050	.	GRCh37	12	122687883	122687883	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758972883	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	24	0	ENST00000339777.4:c.1865C>T	p.Pro622Leu	p.P622L	ENST00000339777	NM_152759.4	622	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45001.1	1865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCCGATCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF224	.	.	ENSP00000344233	.	12/12	.	.	.	.	.	.	.	.	rs758972883	12/12	PASS	ENST00000339777	Transcript	.	.	ENSG00000158113	28562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.35)	.	LRC43_HUMAN	LRRC43	HGNC	F5H0N3_HUMAN	.	UPI00015347BE	SNV	LRRC43,missense_variant,p.Pro437Leu,ENST00000425921,;LRRC43,missense_variant,p.Pro622Leu,ENST00000339777,;B3GNT4,upstream_gene_variant,,ENST00000535274,;DIABLO,downstream_gene_variant,,ENST00000353548,;DIABLO,downstream_gene_variant,,ENST00000464942,;DIABLO,downstream_gene_variant,,ENST00000413918,;B3GNT4,upstream_gene_variant,,ENST00000546192,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000267169,;DIABLO,downstream_gene_variant,,ENST00000443649,;B3GNT4,upstream_gene_variant,,ENST00000324189,;LRRC43,downstream_gene_variant,,ENST00000537733,;LRRC43,downstream_gene_variant,,ENST00000541498,;B3GNT4,upstream_gene_variant,,ENST00000538257,;B3GNT4,upstream_gene_variant,,ENST00000545141,;B3GNT4,upstream_gene_variant,,ENST00000537991,;DIABLO,downstream_gene_variant,,ENST00000342392,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;	1893	24	20	SUCCESS
ARID2	196528	.	GRCh37	12	46215247	46215247	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	375	147	357	0	ENST00000334344.6:c.683del	p.Lys228ArgfsTer64	p.K228Rfs*64	ENST00000334344	NM_152641.2	228	Aag/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS31783.1	682	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAGAGAAGACT	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	deletion	ARID2,frameshift_variant,p.Lys228ArgfsTer64,ENST00000334344,;ARID2,frameshift_variant,p.Lys79ArgfsTer64,ENST00000422737,;	854	357	522	SUCCESS
CAND1	55832	.	GRCh37	12	67701255	67701255	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	87	0	ENST00000545606.1:c.3008del	p.Leu1003ArgfsTer2	p.L1003Rfs*2	ENST00000545606	NM_018448.3	1003	cTg/cg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS8977.1	3008	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCACTGTTAA	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	deletion	CAND1,frameshift_variant,p.Leu1003ArgfsTer2,ENST00000545606,;CAND1,frameshift_variant,p.Leu543ArgfsTer2,ENST00000544619,;CAND1,3_prime_UTR_variant,,ENST00000540319,;	3445	87	116	SUCCESS
F10	2159	.	GRCh37	13	113803570	113803570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	64	0	ENST00000375559.3:c.1206G>A	p.Met402Ile	p.M402I	ENST00000375559	NM_000504.3	402	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9530.1	1206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATGTTCTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265:SF40,hmmpanther:PTHR24265,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF001143,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000364709	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000375559	Transcript	.	.	ENSG00000126218	3528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	FA10_HUMAN	F10	HGNC	Q5JVE7_HUMAN	.	UPI000000DB39	SNV	F10,missense_variant,p.Met402Ile,ENST00000375559,;F10,3_prime_UTR_variant,,ENST00000409306,;F10,3_prime_UTR_variant,,ENST00000375551,;F10,downstream_gene_variant,,ENST00000410083,;F10,downstream_gene_variant,,ENST00000498455,;	1244	64	64	SUCCESS
IRF9	10379	.	GRCh37	14	24631525	24631525	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	59	0	ENST00000396864.3:c.172T>G	p.Phe58Val	p.F58V	ENST00000396864	NM_006084.4	58	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS9615.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTTCTTC	NONE	.	.	PROSITE_profiles:PS51507,hmmpanther:PTHR11949:SF21,hmmpanther:PTHR11949,PROSITE_patterns:PS00601,Pfam_domain:PF00605,Gene3D:1.10.10.10,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267	.	.	ENSP00000380073	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000396864	Transcript	.	.	ENSG00000213928	6131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.645)	.	tolerated(0.05)	.	IRF9_HUMAN	IRF9	HGNC	.	.	UPI000012D8C2	SNV	IRF9,missense_variant,p.Phe58Val,ENST00000396864,;IRF9,missense_variant,p.Phe58Val,ENST00000559284,;IRF9,missense_variant,p.Phe58Val,ENST00000560275,;IRF9,intron_variant,,ENST00000557894,;RNF31,downstream_gene_variant,,ENST00000559719,;RNF31,downstream_gene_variant,,ENST00000324103,;RNF31,downstream_gene_variant,,ENST00000560754,;RNF31,downstream_gene_variant,,ENST00000382687,;RNF31,downstream_gene_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000559275,;IRF9,upstream_gene_variant,,ENST00000324076,;RNA5SP383,downstream_gene_variant,,ENST00000362934,;RP11-468E2.4,3_prime_UTR_variant,,ENST00000558468,;IRF9,non_coding_transcript_exon_variant,,ENST00000561412,;IRF9,non_coding_transcript_exon_variant,,ENST00000560365,;IRF9,non_coding_transcript_exon_variant,,ENST00000561009,;IRF9,non_coding_transcript_exon_variant,,ENST00000561415,;IRF9,intron_variant,,ENST00000560852,;IRF9,intron_variant,,ENST00000561342,;RNF31,downstream_gene_variant,,ENST00000559071,;RNF31,downstream_gene_variant,,ENST00000559449,;RNF31,downstream_gene_variant,,ENST00000558452,;RNF31,downstream_gene_variant,,ENST00000491351,;IRF9,upstream_gene_variant,,ENST00000560542,;RNF31,downstream_gene_variant,,ENST00000483895,;RNF31,downstream_gene_variant,,ENST00000560631,;IRF9,upstream_gene_variant,,ENST00000559863,;IRF9,upstream_gene_variant,,ENST00000559229,;RNF31,downstream_gene_variant,,ENST00000559491,;IRF9,upstream_gene_variant,,ENST00000560311,;	459	59	50	SUCCESS
IRF9	10379	.	GRCh37	14	24631526	24631526	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	58	0	ENST00000396864.3:c.173T>C	p.Phe58Ser	p.F58S	ENST00000396864	NM_006084.4	58	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS9615.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTTCTTCA	NONE	.	.	PROSITE_profiles:PS51507,hmmpanther:PTHR11949:SF21,hmmpanther:PTHR11949,PROSITE_patterns:PS00601,Pfam_domain:PF00605,Gene3D:1.10.10.10,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267	.	.	ENSP00000380073	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000396864	Transcript	.	.	ENSG00000213928	6131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	IRF9_HUMAN	IRF9	HGNC	.	.	UPI000012D8C2	SNV	IRF9,missense_variant,p.Phe58Ser,ENST00000396864,;IRF9,missense_variant,p.Phe58Ser,ENST00000559284,;IRF9,missense_variant,p.Phe58Ser,ENST00000560275,;IRF9,intron_variant,,ENST00000557894,;RNF31,downstream_gene_variant,,ENST00000559719,;RNF31,downstream_gene_variant,,ENST00000324103,;RNF31,downstream_gene_variant,,ENST00000560754,;RNF31,downstream_gene_variant,,ENST00000382687,;RNF31,downstream_gene_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000559275,;IRF9,upstream_gene_variant,,ENST00000324076,;RNA5SP383,downstream_gene_variant,,ENST00000362934,;RP11-468E2.4,3_prime_UTR_variant,,ENST00000558468,;IRF9,non_coding_transcript_exon_variant,,ENST00000561412,;IRF9,non_coding_transcript_exon_variant,,ENST00000560365,;IRF9,non_coding_transcript_exon_variant,,ENST00000561009,;IRF9,non_coding_transcript_exon_variant,,ENST00000561415,;IRF9,intron_variant,,ENST00000560852,;IRF9,intron_variant,,ENST00000561342,;RNF31,downstream_gene_variant,,ENST00000559071,;RNF31,downstream_gene_variant,,ENST00000559449,;RNF31,downstream_gene_variant,,ENST00000558452,;RNF31,downstream_gene_variant,,ENST00000491351,;IRF9,upstream_gene_variant,,ENST00000560542,;RNF31,downstream_gene_variant,,ENST00000483895,;RNF31,downstream_gene_variant,,ENST00000560631,;IRF9,upstream_gene_variant,,ENST00000559863,;IRF9,upstream_gene_variant,,ENST00000559229,;RNF31,downstream_gene_variant,,ENST00000559491,;IRF9,upstream_gene_variant,,ENST00000560311,;	460	58	50	SUCCESS
FRMD6	122786	.	GRCh37	14	52186983	52187007	+	frameshift_variant	Frame_Shift_Del	DEL	ACTCCAGCAGTGCCATCCACCGCAA	ACTCCAGCAGTGCCATCCACCGCAA	-	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	ACTCCAGCAGTGCCATCCACCGCAA	ACTCCAGCAGTGCCATCCACCGCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	60	0	ENST00000344768.5:c.1235_1259del	p.Tyr412CysfsTer2	p.Y412Cfs*2	ENST00000344768		412	tACTCCAGCAGTGCCATCCACCGCAAg/tg	0	.	.	.	.	.	-	YSSSAIHRK/X	protein_coding	YES	CCDS58318.1	1235-1259	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGCTACTCCAGCAGTGCCATCCACCGCAAGCTGA	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9	.	.	ENSP00000343899	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000344768	Transcript	.	.	ENSG00000139926	19839	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FRMD6_HUMAN	FRMD6	HGNC	G3V517_HUMAN,G3V3V8_HUMAN	.	UPI00000473F6	deletion	FRMD6,frameshift_variant,p.Tyr335CysfsTer2,ENST00000554167,;FRMD6,frameshift_variant,p.Tyr54CysfsTer2,ENST00000555703,;FRMD6,frameshift_variant,p.Tyr404CysfsTer2,ENST00000395718,;FRMD6,frameshift_variant,p.Tyr404CysfsTer2,ENST00000356218,;FRMD6,frameshift_variant,p.Tyr142CysfsTer2,ENST00000555197,;FRMD6,frameshift_variant,p.Tyr412CysfsTer2,ENST00000344768,;FRMD6,frameshift_variant,p.Tyr54CysfsTer2,ENST00000553556,;RNU6-301P,upstream_gene_variant,,ENST00000384277,;FRMD6,downstream_gene_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557522,;	1431-1455	60	46	SUCCESS
TEX9	374618	.	GRCh37	15	56683606	56683606	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	65	130	0	ENST00000352903.2:c.561C>T	p.Asp187=	p.D187=	ENST00000352903	NM_198524.1	187	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS10157.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGACATTGG	NONE	.	.	hmmpanther:PTHR23313	.	.	ENSP00000342169	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000352903	Transcript	.	.	ENSG00000151575	29585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX9_HUMAN	TEX9	HGNC	H0YKG1_HUMAN,B4DH73_HUMAN	.	UPI00000731FD	SNV	TEX9,synonymous_variant,p.%3D,ENST00000558083,;TEX9,synonymous_variant,p.%3D,ENST00000537232,;TEX9,synonymous_variant,p.%3D,ENST00000352903,;TEX9,synonymous_variant,p.%3D,ENST00000561221,;TEX9,downstream_gene_variant,,ENST00000560827,;TEX9,upstream_gene_variant,,ENST00000560582,;RP11-48G14.2,downstream_gene_variant,,ENST00000564401,;TEX9,3_prime_UTR_variant,,ENST00000558127,;TEX9,upstream_gene_variant,,ENST00000559546,;	585	130	137	SUCCESS
COX5A	9377	.	GRCh37	15	75221554	75221554	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	65	0	ENST00000322347.6:c.120C>G	p.Cys40Trp	p.C40W	ENST00000322347	NM_004255.3	40	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS10273.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAGCAGCG	NONE	.	.	hmmpanther:PTHR14200,hmmpanther:PTHR14200:SF11	.	.	ENSP00000317780	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000322347	Transcript	.	.	ENSG00000178741	2267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	tolerated(0.09)	.	COX5A_HUMAN	COX5A	HGNC	Q71UP1_HUMAN,H3BRM5_HUMAN	.	UPI000007112F	SNV	COX5A,missense_variant,p.Cys40Trp,ENST00000562233,;COX5A,missense_variant,p.Cys40Trp,ENST00000322347,;COX5A,missense_variant,p.Cys40Trp,ENST00000568783,;COX5A,missense_variant,p.Cys40Trp,ENST00000564811,;COX5A,5_prime_UTR_variant,,ENST00000568517,;COX5A,intron_variant,,ENST00000567270,;	274	66	75	SUCCESS
GNPTG	84572	.	GRCh37	16	1412312	1412312	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748204437	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	33	0	ENST00000204679.4:c.517G>A	p.Ala173Thr	p.A173T	ENST00000204679	NM_032520.4	173	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10436.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGCCTTG	NONE	.	.	hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6,Pfam_domain:PF13015	.	.	ENSP00000204679	.	7/11	.	.	.	.	.	.	.	.	rs748204437	7/11	PASS	ENST00000204679	Transcript	.	.	ENSG00000090581	23026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0.04)	.	GNPTG_HUMAN	GNPTG	HGNC	Q96RZ2_HUMAN	.	UPI0000073F3C	SNV	GNPTG,missense_variant,p.Ala173Thr,ENST00000204679,;UNKL,downstream_gene_variant,,ENST00000248104,;UNKL,downstream_gene_variant,,ENST00000403703,;UNKL,downstream_gene_variant,,ENST00000402641,;UNKL,downstream_gene_variant,,ENST00000397464,;GNPTG,downstream_gene_variant,,ENST00000529110,;UNKL,downstream_gene_variant,,ENST00000508903,;UNKL,downstream_gene_variant,,ENST00000391893,;UNKL,downstream_gene_variant,,ENST00000389221,;LA16c-316G12.2,upstream_gene_variant,,ENST00000569831,;UNKL,downstream_gene_variant,,ENST00000562537,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527076,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527168,;GNPTG,non_coding_transcript_exon_variant,,ENST00000529957,;UNKL,downstream_gene_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000526820,;GNPTG,downstream_gene_variant,,ENST00000527876,;GNPTG,downstream_gene_variant,,ENST00000534197,;	560	33	28	SUCCESS
ITGAL	3683	.	GRCh37	16	30507788	30507788	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	94	0	ENST00000356798.6:c.1733T>C	p.Ile578Thr	p.I578T	ENST00000356798	NM_002209.2	578	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS32433.1	1733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATTCAGT	NONE	.	.	Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220:SF70,hmmpanther:PTHR23220,PROSITE_profiles:PS51470	.	.	ENSP00000349252	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000356798	Transcript	.	.	ENSG00000005844	6148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.564)	.	deleterious(0)	.	ITAL_HUMAN	ITGAL	HGNC	I3L468_HUMAN,H3BNL5_HUMAN	.	UPI000013C4FF	SNV	ITGAL,missense_variant,p.Ile495Thr,ENST00000358164,;ITGAL,missense_variant,p.Ile578Thr,ENST00000356798,;ITGAL,intron_variant,,ENST00000433423,;RP11-297C4.1,downstream_gene_variant,,ENST00000563751,;ITGAL,downstream_gene_variant,,ENST00000568012,;ITGAL,non_coding_transcript_exon_variant,,ENST00000568987,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000564935,;ITGAL,upstream_gene_variant,,ENST00000563615,;	1913	94	93	SUCCESS
DNAH9	1770	.	GRCh37	17	11737970	11737970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	25	0	ENST00000262442.4:c.9262G>A	p.Ala3088Thr	p.A3088T	ENST00000262442	NM_001372.3	3088	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11160.1	9262	RADIA|MUTECT|MUSE	.	TGAAAGCAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000262442	.	49/69	.	.	.	.	.	.	.	.	.	49/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.285)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Ala3088Thr,ENST00000454412,;DNAH9,missense_variant,p.Ala3088Thr,ENST00000262442,;	9330	25	20	SUCCESS
MYO1C	4641	.	GRCh37	17	1374598	1374598	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749913381	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	43	0	ENST00000359786.5:c.2054C>T	p.Thr685Met	p.T685M	ENST00000359786	NM_001080779.1	685	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS42226.1	2054	MUTECT|MUSE	.	CCCACGTGGGC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF255,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000352834	.	20/32	.	.	.	.	.	.	.	.	rs749913381	20/32	PASS	ENST00000359786	Transcript	.	.	ENSG00000197879	7597	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.835)	.	tolerated(0.05)	.	MYO1C_HUMAN	MYO1C	HGNC	I3L4D4_HUMAN,I3L3Y6_HUMAN,I3L3F5_HUMAN,I3L204_HUMAN,I3L168_HUMAN	.	UPI0000200579	SNV	MYO1C,missense_variant,p.Thr661Met,ENST00000545534,;MYO1C,missense_variant,p.Thr666Met,ENST00000438665,;MYO1C,missense_variant,p.Thr650Met,ENST00000361007,;MYO1C,missense_variant,p.Thr650Met,ENST00000575158,;MYO1C,missense_variant,p.Thr685Met,ENST00000359786,;MYO1C,non_coding_transcript_exon_variant,,ENST00000571615,;MYO1C,non_coding_transcript_exon_variant,,ENST00000575864,;MYO1C,upstream_gene_variant,,ENST00000575011,;MYO1C,upstream_gene_variant,,ENST00000572615,;MYO1C,upstream_gene_variant,,ENST00000574341,;MYO1C,upstream_gene_variant,,ENST00000574308,;	2379	43	43	SUCCESS
SLC38A10	124565	.	GRCh37	17	79226202	79226202	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	24	49	0	ENST00000374759.3:c.1738G>A	p.Val580Ile	p.V580I	ENST00000374759	NM_001037984.1	580	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS42397.1	1738	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACTTTCT	NONE	.	.	.	.	.	ENSP00000363891	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000374759	Transcript	.	.	ENSG00000157637	28237	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.09)	.	S38AA_HUMAN	SLC38A10	HGNC	F5H3T4_HUMAN	.	UPI000066DA6A	SNV	SLC38A10,missense_variant,p.Val580Ile,ENST00000374759,;SLC38A10,missense_variant,p.Val580Ile,ENST00000288439,;SLC38A10,upstream_gene_variant,,ENST00000576151,;SLC38A10,upstream_gene_variant,,ENST00000540966,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000573058,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000542075,;SLC38A10,upstream_gene_variant,,ENST00000539643,;	2122	49	170	SUCCESS
ANGPTL6	83854	.	GRCh37	19	10204121	10204121	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1255570940	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	59	0	ENST00000253109.4:c.1126C>T	p.Arg376Trp	p.R376W	ENST00000253109	NM_031917.2	376	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12224.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGCAGGC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF169,hmmpanther:PTHR19143,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000253109	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000253109	Transcript	.	.	ENSG00000130812	23140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANGL6_HUMAN	ANGPTL6	HGNC	.	.	UPI000004BA54	SNV	ANGPTL6,missense_variant,p.Arg376Trp,ENST00000253109,;ANGPTL6,missense_variant,p.Arg336Trp,ENST00000589181,;ANGPTL6,missense_variant,p.Arg376Trp,ENST00000592641,;C19orf66,downstream_gene_variant,,ENST00000593131,;C19orf66,downstream_gene_variant,,ENST00000591813,;C19orf66,downstream_gene_variant,,ENST00000590378,;C19orf66,downstream_gene_variant,,ENST00000397881,;C19orf66,downstream_gene_variant,,ENST00000253110,;CTD-2240E14.4,upstream_gene_variant,,ENST00000589622,;ANGPTL6,downstream_gene_variant,,ENST00000586910,;C19orf66,downstream_gene_variant,,ENST00000586730,;C19orf66,downstream_gene_variant,,ENST00000585919,;C19orf66,downstream_gene_variant,,ENST00000587609,;C19orf66,downstream_gene_variant,,ENST00000586889,;C19orf66,downstream_gene_variant,,ENST00000587710,;	1365	59	83	SUCCESS
CALR	811	.	GRCh37	19	13054718	13054718	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs148604761	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	78	0	ENST00000316448.5:c.1245C>G	p.Asp415Glu	p.D415E	ENST00000316448	NM_004343.3	415	gaC/gaG	0	.	T:0	.	T:0.0014	.	G	D/E	protein_coding	YES	CCDS12288.1	1245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGACGAGCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF8,PIRSF_domain:PIRSF002356	T:0	.	ENSP00000320866	T:0.001	9/9	.	.	.	.	.	.	.	.	rs148604761	9/9	PASS	ENST00000316448	Transcript	1	T:0.0004	ENSG00000179218	1455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0	tolerated_low_confidence(0.29)	.	CALR_HUMAN	CALR	HGNC	B4E2Y9_HUMAN	.	UPI000004CEC9	SNV	CALR,missense_variant,p.Asp415Glu,ENST00000316448,;CALR,intron_variant,,ENST00000586760,;RAD23A,upstream_gene_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000588454,;RAD23A,upstream_gene_variant,,ENST00000316856,;RAD23A,upstream_gene_variant,,ENST00000592268,;RAD23A,upstream_gene_variant,,ENST00000586534,;CTC-425F1.4,downstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;CALR,missense_variant,p.Asp11Glu,ENST00000586967,;CALR,non_coding_transcript_exon_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000590325,;RAD23A,upstream_gene_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000587486,;RAD23A,upstream_gene_variant,,ENST00000591499,;RAD23A,upstream_gene_variant,,ENST00000593114,;RAD23A,upstream_gene_variant,,ENST00000586375,;	1318	78	83	SUCCESS
CD97	0	.	GRCh37	19	14516639	14516639	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs746727166	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	37	0	ENST00000242786.5:c.1709del	p.Leu570ArgfsTer61	p.L570Rfs*61	ENST00000242786	NM_078481.3	570	cTg/cg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS32929.1	1709	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTCCTGCTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF253,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000242786	.	14/20	.	.	.	.	.	.	.	.	rs746727166	14/20	PASS	ENST00000242786	Transcript	.	.	ENSG00000123146	1711	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD97_HUMAN	CD97	HGNC	.	.	UPI0000161C9A	deletion	CD97,frameshift_variant,p.Leu570ArgfsTer61,ENST00000242786,;CD97,frameshift_variant,p.Leu521ArgfsTer61,ENST00000357355,;CD97,frameshift_variant,p.Leu477ArgfsTer61,ENST00000358600,;DDX39A,downstream_gene_variant,,ENST00000454233,;DDX39A,downstream_gene_variant,,ENST00000242776,;DDX39A,downstream_gene_variant,,ENST00000589675,;DDX39A,downstream_gene_variant,,ENST00000590315,;CTC-548K16.5,intron_variant,,ENST00000590626,;DDX39A,downstream_gene_variant,,ENST00000592927,;DDX39A,downstream_gene_variant,,ENST00000589318,;DDX39A,downstream_gene_variant,,ENST00000588542,;DDX39A,downstream_gene_variant,,ENST00000592391,;DDX39A,downstream_gene_variant,,ENST00000588692,;CD97,downstream_gene_variant,,ENST00000591565,;CD97,downstream_gene_variant,,ENST00000586849,;DDX39A,downstream_gene_variant,,ENST00000587730,;DDX39A,downstream_gene_variant,,ENST00000590556,;DDX39A,downstream_gene_variant,,ENST00000593026,;DDX39A,downstream_gene_variant,,ENST00000324340,;	1789	37	52	SUCCESS
CELF5	60680	.	GRCh37	19	3273900	3273900	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	44	0	ENST00000292672.2:c.373G>A	p.Asp125Asn	p.D125N	ENST00000292672	NM_021938.3	125	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12106.1	373	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCGGACAGT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000292672	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000292672	Transcript	.	.	ENSG00000161082	14058	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.02)	.	CELF5_HUMAN	CELF5	HGNC	.	.	UPI00000705EC	SNV	CELF5,missense_variant,p.Asp125Asn,ENST00000541430,;CELF5,missense_variant,p.Asp125Asn,ENST00000292672,;CELF5,non_coding_transcript_exon_variant,,ENST00000586050,;CELF5,non_coding_transcript_exon_variant,,ENST00000589370,;CELF5,missense_variant,p.Asp11Asn,ENST00000334293,;CELF5,upstream_gene_variant,,ENST00000588350,;	410	45	48	SUCCESS
SUPT5H	6829	.	GRCh37	19	39959925	39959925	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	67	0	ENST00000432763.2:c.1261C>T	p.Gln421Ter	p.Q421*	ENST00000432763	NM_001111020.2	421	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12536.1	1261	MUTECT|MUSE	.	ACTTCCAACCT	NONE	.	.	hmmpanther:PTHR11125,SMART_domains:SM00739,PIRSF_domain:PIRSF036945	.	.	ENSP00000470252	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000599117	Transcript	.	.	ENSG00000196235	11469	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPT5H_HUMAN	SUPT5H	HGNC	M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN	.	UPI000006D81A	SNV	SUPT5H,stop_gained,p.Gln421Ter,ENST00000432763,;SUPT5H,stop_gained,p.Gln421Ter,ENST00000598725,;SUPT5H,stop_gained,p.Gln417Ter,ENST00000402194,;SUPT5H,stop_gained,p.Gln421Ter,ENST00000599117,;SUPT5H,stop_gained,p.Gln417Ter,ENST00000359191,;SUPT5H,downstream_gene_variant,,ENST00000593727,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000599335,;SUPT5H,downstream_gene_variant,,ENST00000598520,;SUPT5H,upstream_gene_variant,,ENST00000596208,;SUPT5H,downstream_gene_variant,,ENST00000599907,;SUPT5H,upstream_gene_variant,,ENST00000598117,;	1628	67	53	SUCCESS
FCGBP	8857	.	GRCh37	19	40408468	40408468	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	52	186	0	ENST00000221347.6:c.4371G>A	p.Lys1457=	p.K1457=	ENST00000221347	NM_003890.2	1457	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS12546.1	4371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTTCTG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	.	.	ENSP00000221347	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;FCGBP,upstream_gene_variant,,ENST00000601713,;	4379	186	146	SUCCESS
PRX	57716	.	GRCh37	19	40903727	40903727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	26	0	ENST00000324001.7:c.532C>A	p.Pro178Thr	p.P178T	ENST00000324001	NM_181882.2	178	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS33028.1	532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGACCCT	NONE	.	.	hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	.	.	ENSP00000326018	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000324001	Transcript	1	.	ENSG00000105227	13797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0.03)	.	PRAX_HUMAN	PRX	HGNC	.	.	UPI000044CC1A	SNV	PRX,missense_variant,p.Pro178Thr,ENST00000324001,;PRX,3_prime_UTR_variant,,ENST00000291825,;	803	26	21	SUCCESS
CYP2F1	1572	.	GRCh37	19	41622416	41622416	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	41	0	ENST00000331105.2:c.228G>A	p.Val76=	p.V76=	ENST00000331105	NM_000774.3	76	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12572.1	228	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGGTCCT	NONE	.	.	hmmpanther:PTHR24300:SF15,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000333534	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000331105	Transcript	.	.	ENSG00000197446	2632	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CP2F1_HUMAN	CYP2F1	HGNC	.	.	UPI000013C622	SNV	CYP2F1,synonymous_variant,p.%3D,ENST00000331105,;CYP2F1,synonymous_variant,p.%3D,ENST00000532164,;CYP2F1,non_coding_transcript_exon_variant,,ENST00000531409,;CYP2F1,non_coding_transcript_exon_variant,,ENST00000526093,;	300	42	38	SUCCESS
ZNF227	7770	.	GRCh37	19	44739094	44739097	+	frameshift_variant	Frame_Shift_Del	DEL	TTTT	TTTT	-	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	TTTT	TTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	120	0	ENST00000313040.7:c.511_514del	p.Phe171GlyfsTer12	p.F171Gfs*12	ENST00000313040	NM_182490.1	171	TTTTgg/gg	0	.	.	.	.	.	-	FW/X	protein_coding	YES	CCDS12636.1	511-514	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCCATTTTGGAGA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	deletion	ZNF227,frameshift_variant,p.Phe120GlyfsTer12,ENST00000589005,;ZNF227,frameshift_variant,p.Phe171GlyfsTer12,ENST00000313040,;ZNF227,frameshift_variant,p.Phe143GlyfsTer12,ENST00000588394,;ZNF227,frameshift_variant,p.Phe120GlyfsTer12,ENST00000391961,;ZNF227,frameshift_variant,p.Phe92GlyfsTer?,ENST00000588219,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	716-719	120	111	SUCCESS
GPR4	2828	.	GRCh37	19	46095354	46095354	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	40	58	0	ENST00000323040.4:c.-230C>A		p.*77*	ENST00000323040	NM_005282.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12669.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAGTCTGG	NONE	.	.	.	.	.	ENSP00000319744	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000323040	Transcript	.	.	ENSG00000177464	4497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR4_HUMAN	GPR4	HGNC	.	.	UPI0000050428	SNV	GPR4,5_prime_UTR_variant,,ENST00000323040,;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	716	59	76	SUCCESS
LMTK3	114783	.	GRCh37	19	49002759	49002759	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	41	0	ENST00000600059.1:c.1567G>T	p.Val523Leu	p.V523L	ENST00000600059		523	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS46136.1	1654	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGCACGCTGG	NONE	.	.	hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF1	.	.	ENSP00000270238	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000270238	Transcript	.	.	ENSG00000142235	19295	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.952)	.	.	.	.	LMTK3	HGNC	.	.	UPI00001D8182	SNV	LMTK3,missense_variant,p.Val523Leu,ENST00000600059,;LMTK3,missense_variant,p.Val552Leu,ENST00000270238,;	1654	41	42	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51960896	51960896	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	32	0	ENST00000321424.3:c.552G>T	p.Gly184=	p.G184=	ENST00000321424	NM_014442.2	184	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS33086.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCCCCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000321077	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,synonymous_variant,p.%3D,ENST00000321424,;SIGLEC8,intron_variant,,ENST00000340550,;SIGLEC8,intron_variant,,ENST00000430817,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	619	32	36	SUCCESS
BIRC8	112401	.	GRCh37	19	53793554	53793554	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	91	1	ENST00000426466.1:c.74G>A	p.Arg25Lys	p.R25K	ENST00000426466	NM_033341.4	25	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS12863.1	74	MUTECT|MUSE	.	CAGCTCTTGCA	NONE	.	.	PROSITE_profiles:PS50143,hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,PROSITE_patterns:PS01282,Gene3D:1.10.1170.10,Pfam_domain:PF00653,SMART_domains:SM00238,Superfamily_domains:SSF57924	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.158)	.	tolerated(0.39)	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,missense_variant,p.Arg25Lys,ENST00000426466,;	1322	93	76	SUCCESS
C3	718	.	GRCh37	19	6697550	6697550	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	47	0	ENST00000245907.6:c.2601C>T	p.Leu867=	p.L867=	ENST00000245907	NM_000064.2	867	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32883.1	2601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGAGTAG	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	.	.	ENSP00000245907	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,synonymous_variant,p.%3D,ENST00000245907,;C3,non_coding_transcript_exon_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,;	2694	47	43	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144868027	144868027	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	75	142	0	ENST00000369354.3:c.5412C>A	p.Tyr1804Ter	p.Y1804*	ENST00000369354		1804	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS55627.1	5412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGTACCC	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	33/44	.	.	.	.	.	.	.	.	.	33/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,stop_gained,p.Tyr1804Ter,ENST00000369354,;PDE4DIP,stop_gained,p.Tyr1940Ter,ENST00000369359,;PDE4DIP,stop_gained,p.Tyr1889Ter,ENST00000530740,;PDE4DIP,stop_gained,p.Tyr1698Ter,ENST00000313382,;PDE4DIP,stop_gained,p.Tyr1804Ter,ENST00000369356,;PDE4DIP,upstream_gene_variant,,ENST00000530130,;RP4-791M13.4,downstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,upstream_gene_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000494734,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000481227,;PDE4DIP,upstream_gene_variant,,ENST00000527901,;	5703	142	213	SUCCESS
SEMA6C	10500	.	GRCh37	1	151105186	151105186	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	50	0	ENST00000341697.3:c.2567G>A	p.Gly856Asp	p.G856D	ENST00000341697		856	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS53364.1	2663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCGGAG	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11	.	.	ENSP00000357909	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.2)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Gly856Asp,ENST00000368914,;SEMA6C,missense_variant,p.Gly888Asp,ENST00000368913,;SEMA6C,missense_variant,p.Gly856Asp,ENST00000341697,;SEMA6C,missense_variant,p.Gly848Asp,ENST00000368912,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,intron_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000464018,;SEMA6C,downstream_gene_variant,,ENST00000489944,;	2792	50	93	SUCCESS
RUSC1-AS1	284618	.	GRCh37	1	155290504	155290504	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	20	0	ENST00000446880.1:n.410+422T>C		p.*137*	ENST00000446880				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41410.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAGAATG	NONE	.	214	.	.	.	ENSP00000357336	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,upstream_gene_variant,,ENST00000368352,;RUSC1,upstream_gene_variant,,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000450199,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,intron_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000446880,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	.	20	29	SUCCESS
OR6Y1	391112	.	GRCh37	1	158517298	158517298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	60	60	0	ENST00000302617.3:c.598G>T	p.Ala200Ser	p.A200S	ENST00000302617	NM_001005189.1	200	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS30899.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCCTGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302617	Transcript	.	.	ENSG00000197532	14823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.01)	.	OR6Y1_HUMAN	OR6Y1	HGNC	.	.	UPI000004B1E2	SNV	OR6Y1,missense_variant,p.Ala200Ser,ENST00000302617,;	598	60	117	SUCCESS
SLC25A34	284723	.	GRCh37	1	16064682	16064682	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	47	1	ENST00000294454.5:c.539G>T	p.Gly180Val	p.G180V	ENST00000294454	NM_207348.1	180	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS162.1	539	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTGGGCTCAG	NONE	.	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF209,PROSITE_profiles:PS50920	.	.	ENSP00000294454	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000294454	Transcript	.	.	ENSG00000162461	27653	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	S2534_HUMAN	SLC25A34	HGNC	.	.	UPI00001A7D46	SNV	SLC25A34,missense_variant,p.Gly180Val,ENST00000294454,;TMEM82,upstream_gene_variant,,ENST00000375782,;PLEKHM2,downstream_gene_variant,,ENST00000375793,;PLEKHM2,downstream_gene_variant,,ENST00000375799,;RP11-169K16.4,downstream_gene_variant,,ENST00000418525,;RP11-288I21.1,upstream_gene_variant,,ENST00000453804,;SLC25A34,non_coding_transcript_exon_variant,,ENST00000489568,;TMEM82,upstream_gene_variant,,ENST00000465575,;SLC25A34,upstream_gene_variant,,ENST00000465495,;PLEKHM2,downstream_gene_variant,,ENST00000477849,;	620	49	66	SUCCESS
CDC73	79577	.	GRCh37	1	193111054	193111054	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	39	107	0	ENST00000367435.3:c.587C>G	p.Thr196Ser	p.T196S	ENST00000367435	NM_024529.4	196	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS1382.1	587	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACTATCA	NONE	.	.	hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8	.	.	ENSP00000356405	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000367435	Transcript	.	.	ENSG00000134371	16783	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	CDC73_HUMAN	CDC73	HGNC	.	.	UPI0000021592	SNV	CDC73,missense_variant,p.Thr196Ser,ENST00000367435,;CDC73,downstream_gene_variant,,ENST00000482484,;	771	107	207	SUCCESS
LHX9	56956	.	GRCh37	1	197896793	197896793	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	105	84	0	ENST00000367387.4:c.806G>A	p.Arg269His	p.R269H	ENST00000367387	NM_020204.2	269	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS1393.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGCATGC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF95,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000356357	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000367387	Transcript	.	.	ENSG00000143355	14222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LHX9_HUMAN	LHX9	HGNC	.	.	UPI00001B6453	SNV	LHX9,missense_variant,p.Arg269His,ENST00000367387,;LHX9,missense_variant,p.Arg260His,ENST00000367390,;LHX9,missense_variant,p.Arg275His,ENST00000561173,;LHX9,missense_variant,p.Arg260His,ENST00000367391,;LHX9,missense_variant,p.Arg269His,ENST00000337020,;	1231	84	199	SUCCESS
MARK1	4139	.	GRCh37	1	220791830	220791830	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	34	96	0	ENST00000366917.4:c.731G>T	p.Gly244Val	p.G244V	ENST00000366917	NM_001286124.1	244	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31029.2	731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGCGTCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346,PROSITE_profiles:PS50011	.	.	ENSP00000355884	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000366917	Transcript	.	.	ENSG00000116141	6896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	MARK1_HUMAN	MARK1	HGNC	B4DIB3_HUMAN	.	UPI0000048D8B	SNV	MARK1,missense_variant,p.Gly222Val,ENST00000366918,;MARK1,missense_variant,p.Gly109Val,ENST00000402574,;MARK1,missense_variant,p.Gly244Val,ENST00000366917,;	997	96	152	SUCCESS
TP53BP2	7159	.	GRCh37	1	224009040	224009040	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	64	66	0	ENST00000343537.7:c.57T>G	p.Asn19Lys	p.N19K	ENST00000343537	NM_001031685.2	19	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS44319.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCATTGTT	NONE	.	.	hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131,Superfamily_domains:SSF54236	.	.	ENSP00000341957	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	deleterious(0)	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,missense_variant,p.Asn19Lys,ENST00000343537,;TP53BP2,5_prime_UTR_variant,,ENST00000391878,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000473135,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000472180,;TP53BP2,upstream_gene_variant,,ENST00000496282,;TP53BP2,intron_variant,,ENST00000465119,;	349	66	128	SUCCESS
DNAH14	127602	.	GRCh37	1	225284905	225284905	+	intron_variant	Intron	SNP	A	A	G	rs907566848	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	6	43	0	ENST00000445597.2:c.3051+11414A>G		p.*1017*	ENST00000445597		298		0	.	.	.	.	.	G	Y/C	protein_coding	.	.	893	MUTECT|MUSE	.	GCTTTATCTTG	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF132	.	.	ENSP00000332424	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000328556	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	.	DNAH14	HGNC	H9KV43_HUMAN	.	UPI000198C4F6	SNV	DNAH14,missense_variant,p.Tyr298Cys,ENST00000328556,;DNAH14,missense_variant,p.Tyr1220Cys,ENST00000430092,;DNAH14,missense_variant,p.Tyr1220Cys,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;	893	43	128	SUCCESS
FH	2271	.	GRCh37	1	241667442	241667442	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	98	89	0	ENST00000366560.3:c.1008G>A	p.Met336Ile	p.M336I	ENST00000366560	NM_000143.3	336	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1617.1	1008	RADIA|MUTECT|MUSE	.	ATCTTCATCAG	NONE	.	.	Prints_domain:PR00149,Superfamily_domains:SSF48557,TIGRFAM_domain:TIGR00979,Gene3D:1.20.200.10,Pfam_domain:PF00206,hmmpanther:PTHR11444:SF1,hmmpanther:PTHR11444,HAMAP:MF_00743	.	.	ENSP00000355518	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000366560	Transcript	.	.	ENSG00000091483	3700	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	FUMH_HUMAN	FH	HGNC	B1ANK7_HUMAN	.	UPI000012AD6A	SNV	FH,missense_variant,p.Met336Ile,ENST00000366560,;	1047	89	198	SUCCESS
FH	2271	.	GRCh37	1	241667444	241667444	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	101	85	0	ENST00000366560.3:c.1006A>C	p.Met336Leu	p.M336L	ENST00000366560	NM_000143.3	336	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS1617.1	1006	RADIA|MUTECT|MUSE	.	CTTCATCAGAC	NONE	.	.	Prints_domain:PR00149,Superfamily_domains:SSF48557,TIGRFAM_domain:TIGR00979,Gene3D:1.20.200.10,Pfam_domain:PF00206,hmmpanther:PTHR11444:SF1,hmmpanther:PTHR11444,HAMAP:MF_00743	.	.	ENSP00000355518	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000366560	Transcript	.	.	ENSG00000091483	3700	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.098)	.	deleterious(0.03)	.	FUMH_HUMAN	FH	HGNC	B1ANK7_HUMAN	.	UPI000012AD6A	SNV	FH,missense_variant,p.Met336Leu,ENST00000366560,;	1045	85	201	SUCCESS
FAAH	2166	.	GRCh37	1	46867761	46867761	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	59	0	ENST00000243167.8:c.196-2A>G		p.X66_splice	ENST00000243167	NM_001441.2	66		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS535.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGAACC	NONE	.	.	.	.	.	ENSP00000243167	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000243167	Transcript	.	.	ENSG00000117480	3553	.	.	HIGH	1/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAAH1_HUMAN	FAAH	HGNC	.	.	UPI000013C9E7	SNV	FAAH,splice_acceptor_variant,,ENST00000243167,;FAAH,splice_acceptor_variant,,ENST00000468718,;FAAH,splice_acceptor_variant,,ENST00000493735,;FAAH,upstream_gene_variant,,ENST00000489366,;FAAH,upstream_gene_variant,,ENST00000484697,;	.	59	63	SUCCESS
LDLRAD1	388633	.	GRCh37	1	54477846	54477846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	23	0	ENST00000371360.1:c.310C>T	p.His104Tyr	p.H104Y	ENST00000371360	NM_001010978.3	104	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS30725.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGGGTAC	NONE	.	.	Prints_domain:PR00261,Superfamily_domains:SSF57424,SMART_domains:SM00192,Gene3D:4.10.400.10,hmmpanther:PTHR22722:SF3,hmmpanther:PTHR22722,PROSITE_profiles:PS50068	.	.	ENSP00000360411	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000371360	Transcript	.	.	ENSG00000203985	32069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.08)	.	LRAD1_HUMAN	LDLRAD1	HGNC	.	.	UPI00001D7D0D	SNV	LDLRAD1,missense_variant,p.His104Tyr,ENST00000371360,;LDLRAD1,missense_variant,p.His65Tyr,ENST00000420619,;LDLRAD1,missense_variant,p.His61Tyr,ENST00000545928,;LDLRAD1,intron_variant,,ENST00000371362,;AL353898.1,upstream_gene_variant,,ENST00000358975,;	328	23	19	SUCCESS
SLC12A5	57468	.	GRCh37	20	44664102	44664102	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	81	0	ENST00000454036.2:c.276C>A	p.Thr92=	p.T92=	ENST00000454036	NM_001134771.1	92	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46610.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACCAACCT	NONE	.	.	hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000387694	.	3/26	.	.	.	.	.	.	.	.	COSM300248	3/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,synonymous_variant,p.%3D,ENST00000372315,;SLC12A5,synonymous_variant,p.%3D,ENST00000454036,;SLC12A5,synonymous_variant,p.%3D,ENST00000608944,;SLC12A5,synonymous_variant,p.%3D,ENST00000243964,;SLC12A5,synonymous_variant,p.%3D,ENST00000539566,;	325	81	62	SUCCESS
DPP10	57628	.	GRCh37	2	116503668	116503668	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	57	67	0	ENST00000410059.1:c.859C>G	p.Gln287Glu	p.Q287E	ENST00000410059	NM_001178037.1	287	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS54388.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCAAGTG	NONE	.	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	.	ENSP00000376855	.	10/26	.	.	.	.	.	.	.	.	COSM3565585,COSM3565584	10/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.019)	.	tolerated(0.52)	1,1	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Gln291Glu,ENST00000393147,;DPP10,missense_variant,p.Gln237Glu,ENST00000409163,;DPP10,missense_variant,p.Gln280Glu,ENST00000310323,;DPP10,missense_variant,p.Gln287Glu,ENST00000410059,;	1226	67	98	SUCCESS
BAZ2B	29994	.	GRCh37	2	160289818	160289818	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	52	1	ENST00000392783.2:c.1350C>G	p.Ser450Arg	p.S450R	ENST00000392783	NM_013450.2	450	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS2209.2	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGCTCTT	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,Low_complexity_(Seg):seg	.	.	ENSP00000376534	.	9/37	.	.	.	.	.	.	.	.	.	9/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Ser450Arg,ENST00000355831,;BAZ2B,missense_variant,p.Ser448Arg,ENST00000392782,;BAZ2B,missense_variant,p.Ser448Arg,ENST00000343439,;BAZ2B,missense_variant,p.Ser450Arg,ENST00000392783,;BAZ2B,upstream_gene_variant,,ENST00000441143,;BAZ2B,downstream_gene_variant,,ENST00000482503,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000472953,;BAZ2B,downstream_gene_variant,,ENST00000467184,;	1846	53	74	SUCCESS
SP3	6670	.	GRCh37	2	174820570	174820570	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759683077	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	63	58	0	ENST00000310015.6:c.670A>G	p.Ile224Val	p.I224V	ENST00000310015	NM_001172712.1	224	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2254.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGTTAG	NONE	.	.	hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3	.	.	ENSP00000310301	.	4/7	.	.	.	.	.	.	.	.	rs759683077	4/7	PASS	ENST00000310015	Transcript	.	.	ENSG00000172845	11208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.24)	.	SP3_HUMAN	SP3	HGNC	Q68DP2_HUMAN,H0Y6K5_HUMAN	.	UPI000019B3E0	SNV	SP3,missense_variant,p.Ile181Val,ENST00000416195,;SP3,missense_variant,p.Ile156Val,ENST00000418194,;SP3,missense_variant,p.Ile171Val,ENST00000455789,;SP3,missense_variant,p.Ile224Val,ENST00000310015,;SP3,non_coding_transcript_exon_variant,,ENST00000462904,;SP3,downstream_gene_variant,,ENST00000483084,;SP3,downstream_gene_variant,,ENST00000490182,;	1201	58	98	SUCCESS
TTN	7273	.	GRCh37	2	179560965	179560965	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	46	68	0	ENST00000591111.1:c.29883T>C	p.Ala9961=	p.A9961=	ENST00000591111		9961	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS59435.1	30834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGCTTT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	114/363	.	.	.	.	.	.	.	.	.	114/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000414766,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31059	68	78	SUCCESS
STAT1	6772	.	GRCh37	2	191872330	191872330	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	72	73	1	ENST00000361099.3:c.331G>A	p.Glu111Lys	p.E111K	ENST00000361099	NM_007315.3	111	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2309.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCCTTCA	NONE	.	.	Superfamily_domains:0035539,SMART_domains:SM00964,Pfam_domain:PF02865,Gene3D:1bgfA00,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF18	.	.	ENSP00000354394	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000361099	Transcript	.	.	ENSG00000115415	11362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.22)	.	STAT1_HUMAN	STAT1	HGNC	Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN	.	UPI00000473FB	SNV	STAT1,missense_variant,p.Glu111Lys,ENST00000540176,;STAT1,missense_variant,p.Glu113Lys,ENST00000392323,;STAT1,missense_variant,p.Glu111Lys,ENST00000454414,;STAT1,missense_variant,p.Glu111Lys,ENST00000392322,;STAT1,missense_variant,p.Glu111Lys,ENST00000361099,;STAT1,missense_variant,p.Glu111Lys,ENST00000424722,;STAT1,missense_variant,p.Glu111Lys,ENST00000409465,;STAT1,downstream_gene_variant,,ENST00000432058,;STAT1,missense_variant,p.Glu111Lys,ENST00000452281,;	719	74	123	SUCCESS
SPEG	10290	.	GRCh37	2	220344732	220344732	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1401200569	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	4	49	0	ENST00000312358.7:c.5212C>T	p.Arg1738Trp	p.R1738W	ENST00000312358	NM_005876.4	1738	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS42824.1	5212	MUTECT|MUSE	.	AGGTGCGGATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000311684	.	25/41	.	.	.	.	.	.	.	.	COSM1240301	25/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.997)	.	.	1	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Arg1738Trp,ENST00000312358,;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	5344	49	87	SUCCESS
PSMD1	5707	.	GRCh37	2	231931711	231931711	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	79	0	ENST00000308696.6:c.396C>T	p.Gly132=	p.G132=	ENST00000308696	NM_002807.3	132	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2482.1	396	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCATCGT	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947,Superfamily_domains:SSF48371	.	.	ENSP00000309474	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,synonymous_variant,p.%3D,ENST00000444007,;PSMD1,synonymous_variant,p.%3D,ENST00000409643,;PSMD1,synonymous_variant,p.%3D,ENST00000440838,;PSMD1,synonymous_variant,p.%3D,ENST00000373635,;PSMD1,synonymous_variant,p.%3D,ENST00000308696,;PSMD1,3_prime_UTR_variant,,ENST00000431051,;	558	79	103	SUCCESS
VEPH1	79674	.	GRCh37	3	157098983	157098983	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	75	0	ENST00000362010.2:c.1089T>G	p.Leu363=	p.L363=	ENST00000362010	NM_001167912.1	363	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3179.1	1089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTAAGGAG	NONE	.	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9	.	.	ENSP00000354919	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,synonymous_variant,p.%3D,ENST00000362010,;VEPH1,synonymous_variant,p.%3D,ENST00000392833,;VEPH1,synonymous_variant,p.%3D,ENST00000392832,;VEPH1,synonymous_variant,p.%3D,ENST00000543418,;RP11-550I24.2,non_coding_transcript_exon_variant,,ENST00000487238,;VEPH1,non_coding_transcript_exon_variant,,ENST00000488772,;VEPH1,downstream_gene_variant,,ENST00000482685,;	1397	75	99	SUCCESS
GALNT15	117248	.	GRCh37	3	16217085	16217085	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	35	0	ENST00000339732.5:c.427G>A	p.Val143Met	p.V143M	ENST00000339732	NM_054110.4	143	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS33711.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGTGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11675:SF36,hmmpanther:PTHR11675	.	.	ENSP00000344260	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000339732	Transcript	.	.	ENSG00000131386	21531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.11)	.	GLT15_HUMAN	GALNT15	HGNC	B3KT16_HUMAN	.	UPI0000048F0D	SNV	GALNT15,missense_variant,p.Val143Met,ENST00000339732,;GALNT15,missense_variant,p.Val143Met,ENST00000437509,;GALNT15,non_coding_transcript_exon_variant,,ENST00000470031,;GALNT15,upstream_gene_variant,,ENST00000430410,;	930	35	27	SUCCESS
OSBPL10	114884	.	GRCh37	3	31725509	31725509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	49	0	ENST00000396556.2:c.1343G>T	p.Gly448Val	p.G448V	ENST00000396556	NM_017784.4	448	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2651.1	1343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCCAGCG	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47,Pfam_domain:PF01237,Superfamily_domains:0051579	.	.	ENSP00000379804	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000396556	Transcript	.	.	ENSG00000144645	16395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	OSB10_HUMAN	OSBPL10	HGNC	.	.	UPI0000130E9B	SNV	OSBPL10,missense_variant,p.Gly384Val,ENST00000438237,;OSBPL10,missense_variant,p.Gly448Val,ENST00000396556,;OSBPL10,missense_variant,p.Gly217Val,ENST00000429492,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000472175,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000467598,;	1466	49	46	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	74	94	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	94	134	SUCCESS
USP19	10869	.	GRCh37	3	49152516	49152516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	28	49	0	ENST00000398888.2:c.1748G>T	p.Gly583Val	p.G583V	ENST00000398888	NM_006677.2	583	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS56254.1	2051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGCCTGTG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000401197	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Gly686Val,ENST00000417901,;USP19,missense_variant,p.Gly623Val,ENST00000398892,;USP19,missense_variant,p.Gly623Val,ENST00000398898,;USP19,missense_variant,p.Gly674Val,ENST00000453664,;USP19,missense_variant,p.Gly684Val,ENST00000434032,;USP19,missense_variant,p.Gly391Val,ENST00000398896,;USP19,missense_variant,p.Gly583Val,ENST00000398888,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000491859,;	2263	49	60	SUCCESS
MAPKAPK3	7867	.	GRCh37	3	50677796	50677796	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	73	0	ENST00000357955.2:c.220-1G>A		p.X74_splice	ENST00000357955	NM_001243925.1	74		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2832.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGCTCCT	NONE	.	.	.	.	.	ENSP00000396467	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446044	Transcript	.	.	ENSG00000114738	6888	.	.	HIGH	4/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAPK3_HUMAN	MAPKAPK3	HGNC	C9JPW3_HUMAN,C9J8E1_HUMAN	.	UPI0000073D7E	SNV	MAPKAPK3,splice_acceptor_variant,,ENST00000357955,;MAPKAPK3,splice_acceptor_variant,,ENST00000446044,;MAPKAPK3,splice_acceptor_variant,,ENST00000457064,;MAPKAPK3,splice_acceptor_variant,,ENST00000430409,;	.	73	71	SUCCESS
PRDM5	11107	.	GRCh37	4	121732583	121732583	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	60	145	0	ENST00000264808.3:c.887T>C	p.Ile296Thr	p.I296T	ENST00000264808	NM_018699.2	296	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3716.1	887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATATAAGC	BUFFER|p.V299M|c.895G>A|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF17,hmmpanther:PTHR24409,Pfam_domain:PF12874,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264808	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000264808	Transcript	1	.	ENSG00000138738	9349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.63)	.	PRDM5_HUMAN	PRDM5	HGNC	.	.	UPI000013D572	SNV	PRDM5,missense_variant,p.Ile265Thr,ENST00000428209,;PRDM5,missense_variant,p.Ile296Thr,ENST00000264808,;PRDM5,missense_variant,p.Ile265Thr,ENST00000515109,;RNU6-550P,downstream_gene_variant,,ENST00000391057,;PRDM5,3_prime_UTR_variant,,ENST00000502409,;PRDM5,non_coding_transcript_exon_variant,,ENST00000503661,;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;PRDM5,downstream_gene_variant,,ENST00000512845,;	1128	146	143	SUCCESS
CPEB2	132864	.	GRCh37	4	15067830	15067830	+	synonymous_variant	Silent	SNP	C	C	T	rs1020027443	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	105	0	ENST00000507071.1:c.1596C>T	p.Gly532=	p.G532=	ENST00000507071		532	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS56325.1	2931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCGCACG	NONE	.	.	hmmpanther:PTHR12566	.	.	ENSP00000443985	.	12/12	.	.	.	.	.	.	.	.	COSM1427380,COSM1427379	12/12	PASS	ENST00000538197	Transcript	.	.	ENSG00000137449	21745	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	CPEB2	HGNC	J3KN18_HUMAN,H0Y9D9_HUMAN,F5H160_HUMAN	.	UPI0001D0434B	SNV	CPEB2,synonymous_variant,p.%3D,ENST00000507071,;CPEB2,synonymous_variant,p.%3D,ENST00000541112,;CPEB2,synonymous_variant,p.%3D,ENST00000382395,;CPEB2,synonymous_variant,p.%3D,ENST00000345451,;CPEB2,synonymous_variant,p.%3D,ENST00000259997,;CPEB2,synonymous_variant,p.%3D,ENST00000382401,;CPEB2,synonymous_variant,p.%3D,ENST00000538197,;CPEB2,synonymous_variant,p.%3D,ENST00000442003,;CPEB2,downstream_gene_variant,,ENST00000509684,;RP11-665G4.1,intron_variant,,ENST00000502344,;RP11-665G4.1,intron_variant,,ENST00000513384,;	2931	105	111	SUCCESS
KIT	3815	.	GRCh37	4	55604594	55604594	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	80	0	ENST00000288135.5:c.2803-1G>T		p.X935_splice	ENST00000288135	NM_000222.2	935		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3496.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGATTTA	NONE	.	.	.	.	.	ENSP00000288135	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	HIGH	20/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,splice_acceptor_variant,,ENST00000412167,;KIT,splice_acceptor_variant,,ENST00000288135,;	.	80	61	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140741917	140741917	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	77	1	ENST00000522605.1:c.2215G>T	p.Val739Phe	p.V739F	ENST00000522605	NM_018923.2	739	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS54924.1	2215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGTTCTC	NONE	.	.	hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.83)	.	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,missense_variant,p.Val739Phe,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	2215	78	73	SUCCESS
SOX30	11063	.	GRCh37	5	157065387	157065387	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	51	0	ENST00000265007.6:c.1731T>A	p.Ser577Arg	p.S577R	ENST00000265007	NM_178424.1	577	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS4339.1	1731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCACTTCT	NONE	.	.	hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	.	.	ENSP00000265007	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000265007	Transcript	.	.	ENSG00000039600	30635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.478)	.	deleterious(0.01)	.	SOX30_HUMAN	SOX30	HGNC	.	.	UPI00001362BA	SNV	SOX30,missense_variant,p.Ser577Arg,ENST00000265007,;SOX30,missense_variant,p.Ser272Arg,ENST00000519442,;SOX30,intron_variant,,ENST00000311371,;	2073	51	82	SUCCESS
MYO10	4651	.	GRCh37	5	16701140	16701140	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138565696	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	68	0	ENST00000513610.1:c.3364C>T	p.Arg1122Cys	p.R1122C	ENST00000513610	NM_012334.2	1122	Cgc/Tgc	0	A:0.0016	A:0.0023	.	A:0	.	A	R/C	protein_coding	YES	CCDS54834.1	3364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGGTAGT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000421280	A:0	25/41	.	.	.	.	.	.	.	.	rs138565696	25/41	PASS	ENST00000513610	Transcript	.	A:0.0006	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	A:0	deleterious_low_confidence(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Arg479Cys,ENST00000274203,;MYO10,missense_variant,p.Arg479Cys,ENST00000427430,;MYO10,missense_variant,p.Arg461Cys,ENST00000515803,;MYO10,missense_variant,p.Arg461Cys,ENST00000505695,;MYO10,missense_variant,p.Arg1122Cys,ENST00000513610,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000510401,;MYO10,downstream_gene_variant,,ENST00000512061,;MYO10,downstream_gene_variant,,ENST00000506343,;	3819	68	67	SUCCESS
RAI14	26064	.	GRCh37	5	34688294	34688294	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	42	96	0	ENST00000265109.3:c.36+1234T>C		p.*12*	ENST00000265109	NM_015577.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54839.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCTGCTGG	NONE	.	.	.	.	.	ENSP00000427123	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,5_prime_UTR_variant,,ENST00000515799,;RAI14,intron_variant,,ENST00000512305,;RAI14,intron_variant,,ENST00000508315,;RAI14,intron_variant,,ENST00000514873,;RAI14,intron_variant,,ENST00000428746,;RAI14,intron_variant,,ENST00000504052,;RAI14,intron_variant,,ENST00000514036,;RAI14,intron_variant,,ENST00000512625,;RAI14,intron_variant,,ENST00000514527,;RAI14,intron_variant,,ENST00000506376,;RAI14,intron_variant,,ENST00000265109,;RAI14,intron_variant,,ENST00000513974,;RAI14,intron_variant,,ENST00000512629,;RAI14,intron_variant,,ENST00000503673,;RAI14,non_coding_transcript_exon_variant,,ENST00000507502,;RAI14,intron_variant,,ENST00000511652,;RAI14,non_coding_transcript_exon_variant,,ENST00000510386,;RAI14,intron_variant,,ENST00000508777,;RAI14,intron_variant,,ENST00000505185,;RAI14,intron_variant,,ENST00000515448,;RAI14,intron_variant,,ENST00000514931,;RAI14,intron_variant,,ENST00000503222,;RAI14,intron_variant,,ENST00000510319,;	478	96	95	SUCCESS
CDC20B	166979	.	GRCh37	5	54420777	54420777	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	72	0	ENST00000381375.2:c.1069G>T	p.Ala357Ser	p.A357S	ENST00000381375		357	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS54852.1	1069	MUTECT|MUSE	.	CACAGCTTGCT	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000370781	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000381375	Transcript	.	.	ENSG00000164287	24222	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.49)	.	tolerated(0.67)	.	CD20B_HUMAN	CDC20B	HGNC	.	.	UPI0000D61625	SNV	CDC20B,missense_variant,p.Ala357Ser,ENST00000296733,;CDC20B,missense_variant,p.Ala357Ser,ENST00000322374,;CDC20B,missense_variant,p.Ala357Ser,ENST00000381375,;CDC20B,3_prime_UTR_variant,,ENST00000334206,;CDC20B,3_prime_UTR_variant,,ENST00000513180,;	1215	72	57	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056179	26056179	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758668087	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	230	109	1	ENST00000343677.2:c.478A>G	p.Lys160Glu	p.K160E	ENST00000343677	NM_005319.3	160	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4577.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTTCTTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467	.	.	ENSP00000339566	.	1/1	.	.	.	.	.	.	.	.	rs758668087	1/1	PASS	ENST00000343677	Transcript	.	.	ENSG00000187837	4716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,missense_variant,p.Lys160Glu,ENST00000343677,;	521	110	294	SUCCESS
RNF39	80352	.	GRCh37	6	30043421	30043421	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767070867	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	6	53	0	ENST00000244360.6:c.146C>T	p.Ala49Val	p.A49V	ENST00000244360	NM_025236.3	49	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4673.1	146	MUTECT|MUSE	.	AGCGCGCAGAT	NONE	.	.	.	.	.	ENSP00000244360	.	1/4	.	.	.	.	.	.	.	.	rs767070867	1/4	PASS	ENST00000244360	Transcript	.	.	ENSG00000204618	18064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.147)	.	deleterious_low_confidence(0)	.	RNF39_HUMAN	RNF39	HGNC	Q96QB5_HUMAN	.	UPI000000D735	SNV	RNF39,missense_variant,p.Ala49Val,ENST00000376751,;RNF39,missense_variant,p.Ala49Val,ENST00000244360,;	244	53	132	SUCCESS
IER3	8870	.	GRCh37	6	30712289	30712289	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	96	64	0	ENST00000259874.5:c.7C>T	p.His3Tyr	p.H3Y	ENST00000259874	NM_003897.3	3	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS4689.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTGACACA	NONE	.	.	Prints_domain:PR02100,hmmpanther:PTHR16915:SF0,hmmpanther:PTHR16915	.	.	ENSP00000259874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000259874	Transcript	.	.	ENSG00000137331	5392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	tolerated(0.36)	.	IEX1_HUMAN	IER3	HGNC	.	.	UPI00001AFA8D	SNV	IER3,missense_variant,p.His3Tyr,ENST00000376377,;IER3,missense_variant,p.His3Tyr,ENST00000259874,;FLOT1,upstream_gene_variant,,ENST00000416018,;FLOT1,upstream_gene_variant,,ENST00000438162,;FLOT1,upstream_gene_variant,,ENST00000376389,;FLOT1,upstream_gene_variant,,ENST00000418160,;FLOT1,upstream_gene_variant,,ENST00000413165,;FLOT1,upstream_gene_variant,,ENST00000456573,;FLOT1,upstream_gene_variant,,ENST00000454845,;FLOT1,upstream_gene_variant,,ENST00000445853,;XXbac-BPG252P9.10,downstream_gene_variant,,ENST00000607333,;FLOT1,upstream_gene_variant,,ENST00000470643,;FLOT1,upstream_gene_variant,,ENST00000484693,;FLOT1,upstream_gene_variant,,ENST00000484168,;FLOT1,upstream_gene_variant,,ENST00000487376,;FLOT1,upstream_gene_variant,,ENST00000476729,;	43	64	125	SUCCESS
CNR1	1268	.	GRCh37	6	88854115	88854115	+	synonymous_variant	Silent	SNP	C	C	T	rs35057475	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	41	0	ENST00000369499.2:c.879G>A	p.Ala293=	p.A293=	ENST00000369499		293	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5015.1	879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTACGCATA	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF10,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PIRSF_domain:PIRSF037995,Superfamily_domains:SSF81321,Prints_domain:PR00362	.	.	ENSP00000441046	.	2/2	.	.	.	.	.	.	.	.	rs35057475	2/2	PASS	ENST00000537554	Transcript	.	.	ENSG00000118432	2159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNR1_HUMAN	CNR1	HGNC	S5TLS4_HUMAN,Q9BYY6_HUMAN,F8W187_HUMAN	.	UPI00000008AA	SNV	CNR1,synonymous_variant,p.%3D,ENST00000369499,;CNR1,synonymous_variant,p.%3D,ENST00000428600,;CNR1,synonymous_variant,p.%3D,ENST00000535130,;CNR1,synonymous_variant,p.%3D,ENST00000549716,;CNR1,synonymous_variant,p.%3D,ENST00000369501,;CNR1,synonymous_variant,p.%3D,ENST00000468898,;CNR1,synonymous_variant,p.%3D,ENST00000537554,;CNR1,synonymous_variant,p.%3D,ENST00000549890,;CNR1,3_prime_UTR_variant,,ENST00000362094,;CNR1,downstream_gene_variant,,ENST00000551417,;	4442	41	42	SUCCESS
GRM8	2918	.	GRCh37	7	126086303	126086303	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139289550	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	74	0	ENST00000339582.2:c.2554C>T	p.Arg852Cys	p.R852C	ENST00000339582		852	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS5794.1	2554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CTTGCGTTTTT	SITE|p.R852C|c.2554C>T|3	byCluster	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060	.	A:0.0001	ENSP00000344173	.	10/11	.	.	.	.	.	.	.	.	rs139289550,COSM1157877,COSM3784972	10/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.791)	.	deleterious(0)	0,1,1	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Arg852Cys,ENST00000358373,;GRM8,missense_variant,p.Arg852Cys,ENST00000444921,;GRM8,missense_variant,p.Arg852Cys,ENST00000339582,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,non_coding_transcript_exon_variant,,ENST00000489939,;GRM8,missense_variant,p.Arg852Cys,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	3363	74	74	SUCCESS
GLI3	2737	.	GRCh37	7	42017201	42017201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	107	105	1	ENST00000395925.3:c.1768G>T	p.Ala590Ser	p.A590S	ENST00000395925	NM_000168.5	590	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5465.1	1768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCATTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379258	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Ala590Ser,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,non_coding_transcript_exon_variant,,ENST00000464291,;	1853	106	161	SUCCESS
KIAA0196	0	.	GRCh37	8	126044596	126044596	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	73	0	ENST00000318410.7:c.3222A>T	p.Pro1074=	p.P1074=	ENST00000318410	NM_014846.3	1074	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6355.1	3222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGTGGCCA	NONE	.	.	hmmpanther:PTHR15691,Pfam_domain:PF10266	.	.	ENSP00000318016	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000318410	Transcript	1	.	ENSG00000164961	28984	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STRUM_HUMAN	KIAA0196	HGNC	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN	.	UPI000013943B	SNV	KIAA0196,synonymous_variant,p.%3D,ENST00000517845,;KIAA0196,synonymous_variant,p.%3D,ENST00000318410,;KIAA0196,non_coding_transcript_exon_variant,,ENST00000519042,;	3572	73	82	SUCCESS
KCNK9	51305	.	GRCh37	8	140631270	140631270	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	53	0	ENST00000303015.1:c.356C>A	p.Pro119Gln	p.P119Q	ENST00000303015	NM_016601.2	119	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS6377.1	356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGGGATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,Pfam_domain:PF07885,Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324	.	.	ENSP00000430676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000520439	Transcript	1	.	ENSG00000169427	6283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNK9_HUMAN	KCNK9	HGNC	.	.	UPI000000D8AC	SNV	KCNK9,missense_variant,p.Pro119Gln,ENST00000520439,;KCNK9,missense_variant,p.Pro119Gln,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Pro119Gln,ENST00000522317,;	420	53	79	SUCCESS
CSPP1	79848	.	GRCh37	8	68087800	68087800	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	22	0	ENST00000262210.5:c.3094+129C>T		p.*1032*	ENST00000262210	NM_024790.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43744.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCGTTTG	NONE	.	.	.	.	.	ENSP00000262210	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	MODIFIER	24/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	ARFGEF1,missense_variant,p.Arg1252Gln,ENST00000520381,;CSPP1,intron_variant,,ENST00000519668,;CSPP1,intron_variant,,ENST00000262210,;CSPP1,intron_variant,,ENST00000412460,;ARFGEF1,non_coding_transcript_exon_variant,,ENST00000522878,;CSPP1,intron_variant,,ENST00000521168,;CSPP1,intron_variant,,ENST00000521324,;	.	22	29	SUCCESS
ZC2HC1A	51101	.	GRCh37	8	79598709	79598709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	76	143	0	ENST00000263849.4:c.218C>A	p.Pro73Gln	p.P73Q	ENST00000263849	NM_016010.2	73	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS6223.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACCACCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13555:SF25,hmmpanther:PTHR13555	.	.	ENSP00000263849	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000263849	Transcript	.	.	ENSG00000104427	24277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZC21A_HUMAN	ZC2HC1A	HGNC	.	.	UPI000013D475	SNV	ZC2HC1A,missense_variant,p.Pro73Gln,ENST00000263849,;ZC2HC1A,non_coding_transcript_exon_variant,,ENST00000521176,;IL7,intron_variant,,ENST00000523959,;	320	143	256	SUCCESS
ZFP37	7539	.	GRCh37	9	115812177	115812177	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	75	0	ENST00000374227.3:c.133-25T>C		p.*45*	ENST00000374227				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6787.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACATGTTT	NONE	.	.	.	.	.	ENSP00000363344	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374227	Transcript	.	.	ENSG00000136866	12863	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP37_HUMAN	ZFP37	HGNC	.	.	UPI000013D04B	SNV	ZFP37,synonymous_variant,p.%3D,ENST00000553380,;ZFP37,intron_variant,,ENST00000555206,;ZFP37,intron_variant,,ENST00000374227,;	.	75	59	SUCCESS
SPTAN1	6709	.	GRCh37	9	131339464	131339464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	59	0	ENST00000372731.4:c.842A>G	p.Asp281Gly	p.D281G	ENST00000372731	NM_003127.3	281	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS48036.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGATGATT	NONE	.	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	7/57	.	.	.	.	.	.	.	.	.	7/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Asp281Gly,ENST00000372739,;SPTAN1,missense_variant,p.Asp281Gly,ENST00000358161,;SPTAN1,missense_variant,p.Asp281Gly,ENST00000372731,;SPTAN1,upstream_gene_variant,,ENST00000472211,;	952	59	59	SUCCESS
GLRA4	441509	.	GRCh37	X	102974160	102974160	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779430732	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	89	180	1	ENST00000372617.4:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000372617	NM_001024452.2	253	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS43980.2	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCGTTCC	NONE	byFrequency	.	hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000361700	.	7/9	.	.	.	.	.	.	.	.	rs779430732	7/9	PASS	ENST00000372617	Transcript	.	.	ENSG00000188828	31715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	deleterious(0)	.	GLRA4_HUMAN	GLRA4	HGNC	.	.	UPI000188140C	SNV	GLRA4,missense_variant,p.Arg253Gln,ENST00000372617,;GLRA4,downstream_gene_variant,,ENST00000469567,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;GLRA4,intron_variant,,ENST00000436213,;	1179	181	208	SUCCESS
TMEM185A	84548	.	GRCh37	X	148713418	148713419	+	5_prime_UTR_variant	5'UTR	INS	-	-	CGCCGC	rs782108529	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	12	0	ENST00000316916.8:c.-161_-156dup		p.*54*	ENST00000316916	NM_032508.2			0	.	CGCCGC:0.4244	.	CGCCGC:0.4856	.	CGCCGC	.	protein_coding	YES	CCDS14689.1	.	INDELOCATOR|VARSCANI	.	CGCCGTCGCCG	NONE	byFrequency|byCluster|by1000G	.	.	CGCCGC:0.2421	.	ENSP00000359449	CGCCGC:0.4264	1/7	.	.	.	.	.	.	.	.	rs782108529	1/7	PASS	ENST00000316916	Transcript	.	CGCCGC:0.4615	ENSG00000155984	17125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	CGCCGC:0.1748	.	.	T185A_HUMAN	TMEM185A	HGNC	.	.	UPI0001AE6FF9	insertion	TMEM185A,5_prime_UTR_variant,,ENST00000316916,;TMEM185A,5_prime_UTR_variant,,ENST00000536359,;TMEM185A,upstream_gene_variant,,ENST00000511776,;TMEM185A,upstream_gene_variant,,ENST00000507237,;TMEM185A,upstream_gene_variant,,ENST00000513505,;TMEM185A,upstream_gene_variant,,ENST00000502900,;	150-151	12	37	SUCCESS
RLIM	51132	.	GRCh37	X	73812012	73812012	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	52	87	0	ENST00000332687.6:c.1138A>T	p.Ser380Cys	p.S380C	ENST00000332687	NM_016120.3	380	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS14427.1	1138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTGACAT	NONE	.	.	hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	.	.	ENSP00000328059	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332687	Transcript	.	.	ENSG00000131263	13429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	RNF12_HUMAN	RLIM	HGNC	.	.	UPI000006FD6A	SNV	RLIM,missense_variant,p.Ser380Cys,ENST00000349225,;RLIM,missense_variant,p.Ser380Cys,ENST00000332687,;	1357	87	100	SUCCESS
CUBN	8029	.	GRCh37	10	16975121	16975121	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143400113	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	49	83	0	ENST00000377833.4:c.6089G>A	p.Arg2030Gln	p.R2030Q	ENST00000377833	NM_001081.3	2030	cGa/cAa	0	T:0.0009	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS7113.1	6089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTTCGGTGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	T:0.004	T:0	ENSP00000367064	T:0	40/67	.	.	.	.	.	.	.	.	rs143400113,COSM1347109	40/67	common_in_exac	ENST00000377833	Transcript	1	T:0.0010	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.007)	T:0	tolerated(0.73)	0,1	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Arg2030Gln,ENST00000377833,;	6155	83	112	SUCCESS
SPAG6	9576	.	GRCh37	10	22676816	22676816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	82	0	ENST00000376624.3:c.743T>C	p.Val248Ala	p.V248A	ENST00000376624	NM_012443.3	248	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7139.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTTGAAG	NONE	.	.	hmmpanther:PTHR23314,hmmpanther:PTHR23314:SF1,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000365811	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000376624	Transcript	.	.	ENSG00000077327	11215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0.04)	.	SPAG6_HUMAN	SPAG6	HGNC	.	.	UPI0000073ED7	SNV	SPAG6,missense_variant,p.Val248Ala,ENST00000313311,;SPAG6,missense_variant,p.Val248Ala,ENST00000376624,;SPAG6,missense_variant,p.Val324Ala,ENST00000376603,;SPAG6,missense_variant,p.Val223Ala,ENST00000538630,;SPAG6,intron_variant,,ENST00000456231,;SPAG6,intron_variant,,ENST00000376601,;SPAG6,downstream_gene_variant,,ENST00000435326,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,intron_variant,,ENST00000488555,;SPAG6,upstream_gene_variant,,ENST00000487973,;SPAG6,upstream_gene_variant,,ENST00000490361,;	885	82	98	SUCCESS
RASGEF1A	221002	.	GRCh37	10	43694401	43694401	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1441582766	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	52	0	ENST00000395809.1:c.1012G>T	p.Ala338Ser	p.A338S	ENST00000395809		338	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS7202.2	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCTGTCT	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF172,hmmpanther:PTHR23113,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000379154	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000395809	Transcript	.	.	ENSG00000198915	24246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.349)	.	deleterious(0.04)	.	RGF1A_HUMAN	RASGEF1A	HGNC	.	.	UPI00002289AF	SNV	RASGEF1A,missense_variant,p.Ala346Ser,ENST00000374459,;RASGEF1A,missense_variant,p.Ala338Ser,ENST00000395810,;RASGEF1A,missense_variant,p.Ala338Ser,ENST00000395809,;RASGEF1A,downstream_gene_variant,,ENST00000374455,;RASGEF1A,downstream_gene_variant,,ENST00000472864,;	3519	52	64	SUCCESS
SLC25A16	8034	.	GRCh37	10	70243246	70243246	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	40	0	ENST00000609923.1:c.942T>A	p.Ser314=	p.S314=	ENST00000609923	NM_152707.3	314	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7280.1	942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGAGAGGG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF0,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000476815	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000609923	Transcript	.	.	ENSG00000122912	10986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDC_HUMAN	SLC25A16	HGNC	B4DPV4_HUMAN	.	UPI00000704FB	SNV	SLC25A16,synonymous_variant,p.%3D,ENST00000609923,;SLC25A16,synonymous_variant,p.%3D,ENST00000539557,;SLC25A16,downstream_gene_variant,,ENST00000608053,;SLC25A16,non_coding_transcript_exon_variant,,ENST00000265870,;SLC25A16,upstream_gene_variant,,ENST00000439904,;SLC25A16,3_prime_UTR_variant,,ENST00000493963,;	1041	40	40	SUCCESS
TYSND1	219743	.	GRCh37	10	71899886	71899886	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	70	132	0	ENST00000287078.6:c.1495A>T	p.Ser499Cys	p.S499C	ENST00000287078	NM_173555.3	499	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31213.1	1495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCTGGTGA	NONE	.	.	Superfamily_domains:SSF50494,PIRSF_domain:PIRSF037989,Gene3D:2.40.10.10,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0	.	.	ENSP00000287078	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000287078	Transcript	.	.	ENSG00000156521	28531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TYSD1_HUMAN	TYSND1	HGNC	.	.	UPI0000160C9B	SNV	TYSND1,missense_variant,p.Ser499Cys,ENST00000287078,;TYSND1,missense_variant,p.Gln393Leu,ENST00000335494,;TYSND1,non_coding_transcript_exon_variant,,ENST00000494143,;TYSND1,non_coding_transcript_exon_variant,,ENST00000479086,;	1495	132	156	SUCCESS
CDH23	64072	.	GRCh37	10	73453964	73453964	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	50	0	ENST00000224721.6:c.2252T>G	p.Val751Gly	p.V751G	ENST00000224721	NM_022124.5	751	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	.	.	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGTTCGCG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000388894	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000442677	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	.	CDH23	HGNC	.	.	UPI0002B83372	SNV	CDH23,missense_variant,p.Val338Gly,ENST00000442677,;CDH23,missense_variant,p.Val557Gly,ENST00000466757,;CDH23,missense_variant,p.Val751Gly,ENST00000224721,;CDH23,missense_variant,p.Val791Gly,ENST00000299366,;	1012	50	54	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103175403	103175403	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	83	0	ENST00000375735.2:c.11336T>G	p.Leu3779Trp	p.L3779W	ENST00000375735	NM_001080463.1	3779	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS44717.1	11357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTTGAAGA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF03028	.	.	ENSP00000381167	.	78/90	.	.	.	.	.	.	.	.	.	78/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Leu3786Trp,ENST00000398093,;DYNC2H1,missense_variant,p.Leu3779Trp,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,missense_variant,p.Leu172Trp,ENST00000528670,;	11357	83	84	SUCCESS
CWF19L2	143884	.	GRCh37	11	107299752	107299752	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	99	167	1	ENST00000282251.5:c.1206T>C	p.Cys402=	p.C402=	ENST00000282251	NM_152434.2	402	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS8336.2	1206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTACACAA	NONE	.	.	hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072	.	.	ENSP00000282251	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000282251	Transcript	.	.	ENSG00000152404	26508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C19L2_HUMAN	CWF19L2	HGNC	Q6PIV4_HUMAN	.	UPI00005A81B4	SNV	CWF19L2,synonymous_variant,p.%3D,ENST00000433523,;CWF19L2,synonymous_variant,p.%3D,ENST00000282251,;CWF19L2,synonymous_variant,p.%3D,ENST00000431778,;CWF19L2,synonymous_variant,p.%3D,ENST00000532251,;	1234	168	197	SUCCESS
ELMOD1	55531	.	GRCh37	11	107462580	107462580	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	90	0	ENST00000265840.7:c.-86+445C>T		p.*29*	ENST00000265840	NM_018712.3	33		0	.	.	.	.	.	T	L	protein_coding	YES	.	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCTAGGC	NONE	.	.	.	.	.	ENSP00000472830	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000600612	Transcript	.	.	ENSG00000268467	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AP000889.3	Clone_based_ensembl_gene	Q96LP0_HUMAN	.	UPI000006D120	SNV	AP000889.3,synonymous_variant,p.%3D,ENST00000600612,;ELMOD1,intron_variant,,ENST00000443271,;ELMOD1,intron_variant,,ENST00000531234,;ELMOD1,intron_variant,,ENST00000265840,;ELMOD1,non_coding_transcript_exon_variant,,ENST00000529675,;ELMOD1,intron_variant,,ENST00000524378,;ELMOD1,upstream_gene_variant,,ENST00000527036,;CTD-2355J17.2,upstream_gene_variant,,ENST00000604056,;	110	90	80	SUCCESS
ATM	472	.	GRCh37	11	108168011	108168011	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	33	0	ENST00000278616.4:c.4910-3T>A		p.X1637_splice	ENST00000278616	NM_000051.3	1637		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTAGATA	NONE	.	.	.	.	.	ENSP00000278616	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	LOW	32/62	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,splice_region_variant,,ENST00000278616,;ATM,splice_region_variant,,ENST00000452508,;ATM,downstream_gene_variant,,ENST00000531525,;ATM,splice_region_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000534625,;ATM,downstream_gene_variant,,ENST00000531957,;	.	33	39	SUCCESS
MUC5B	727897	.	GRCh37	11	1267649	1267649	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369158178	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	38	194	1	ENST00000529681.1:c.9539C>T	p.Thr3180Met	p.T3180M	ENST00000529681	NM_002458.2	3180	aCg/aTg	0	A:0	T:0	.	T:0	.	T	T/M	protein_coding	YES	CCDS44515.2	9539	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACGGCCA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	T:0	A:0.0002	ENSP00000436812	T:0.001	31/49	.	.	.	.	.	.	.	.	rs369158178,COSM3397540,COSM3397539	31/49	PASS	ENST00000529681	Transcript	.	T:0.0002	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	unknown(0)	T:0	.	0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Thr3180Met,ENST00000529681,;MUC5B,missense_variant,p.Thr3183Met,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	9597	195	215	SUCCESS
KCNA4	3739	.	GRCh37	11	30032269	30032269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	86	0	ENST00000328224.6:c.1957G>T	p.Val653Leu	p.V653L	ENST00000328224	NM_002233.3	653	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS41629.1	1957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACATCAG	NONE	.	.	.	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious_low_confidence(0.03)	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,missense_variant,p.Val653Leu,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	3191	86	112	SUCCESS
ALX4	60529	.	GRCh37	11	44331617	44331617	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	32	37	0	ENST00000329255.3:c.-5C>A		p.*2*	ENST00000329255	NM_021926.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31468.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGCTTG	NONE	.	.	.	.	.	ENSP00000332744	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000329255	Transcript	.	.	ENSG00000052850	450	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALX4_HUMAN	ALX4	HGNC	.	.	UPI000016A402	SNV	ALX4,5_prime_UTR_variant,,ENST00000329255,;	100	37	64	SUCCESS
LRP4	4038	.	GRCh37	11	46912023	46912023	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	31	61	0	ENST00000378623.1:c.1720G>A	p.Gly574Ser	p.G574S	ENST00000378623	NM_002334.3	574	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31478.1	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCCCAGT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000367888	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Gly574Ser,ENST00000378623,;LRP4,upstream_gene_variant,,ENST00000529921,;	1963	62	57	SUCCESS
OR10Q1	219960	.	GRCh37	11	57995924	57995924	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs960762436	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	59	0	ENST00000316770.2:c.424C>T	p.Arg142Cys	p.R142C	ENST00000316770	NM_001004471.2	142	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS31547.1	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCGGGTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000314324	.	1/1	.	.	.	.	.	.	.	.	COSM1354894	1/1	PASS	ENST00000316770	Transcript	.	.	ENSG00000180475	15134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated(0.24)	1	O10Q1_HUMAN	OR10Q1	HGNC	.	.	UPI0000041C4C	SNV	OR10Q1,missense_variant,p.Arg142Cys,ENST00000316770,;	467	59	44	SUCCESS
OR52N1	79473	.	GRCh37	11	5809718	5809718	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	35	44	0	ENST00000317078.1:c.329C>T	p.Thr110Ile	p.T110I	ENST00000317078	NM_001001913.1	110	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31398.1	329	RADIA|MUTECT|MUSE	.	TCCCTGTGAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF107,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000322823	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317078	Transcript	.	.	ENSG00000181001	14853	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.946)	.	deleterious(0.03)	.	O52N1_HUMAN	OR52N1	HGNC	.	.	UPI0000041BDD	SNV	OR52N1,missense_variant,p.Thr110Ile,ENST00000317078,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	329	44	65	SUCCESS
CDC42BPG	55561	.	GRCh37	11	64603631	64603631	+	synonymous_variant	Silent	SNP	G	G	A	rs778521587	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	42	0	ENST00000342711.5:c.1626C>T	p.Ala542=	p.A542=	ENST00000342711	NM_017525.2	542	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31601.1	1626	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGCCCG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22	.	.	ENSP00000345133	.	13/37	.	.	.	.	.	.	.	.	rs778521587	13/37	PASS	ENST00000342711	Transcript	.	.	ENSG00000171219	29829	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MRCKG_HUMAN	CDC42BPG	HGNC	.	.	UPI000047C9E2	SNV	CDC42BPG,synonymous_variant,p.%3D,ENST00000342711,;CDC42BPG,upstream_gene_variant,,ENST00000491280,;CDC42BPG,upstream_gene_variant,,ENST00000468512,;CDC42BPG,upstream_gene_variant,,ENST00000480767,;	1626	42	45	SUCCESS
DHCR7	1717	.	GRCh37	11	71146469	71146469	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	32	0	ENST00000355527.3:c.1380G>A	p.Glu460=	p.E460=	ENST00000355527	NM_001360.2	460	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8200.1	1380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCGCTCCCA	NONE	.	.	hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF22,PROSITE_patterns:PS01018,Pfam_domain:PF01222	.	.	ENSP00000347717	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000355527	Transcript	.	.	ENSG00000172893	2860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHCR7_HUMAN	DHCR7	HGNC	E9PRL8_HUMAN,E9PQ71_HUMAN,E9PJ54_HUMAN,E9PIP9_HUMAN,B4E1K5_HUMAN	.	UPI00000310C7	SNV	DHCR7,synonymous_variant,p.%3D,ENST00000407721,;DHCR7,synonymous_variant,p.%3D,ENST00000355527,;DHCR7,3_prime_UTR_variant,,ENST00000525137,;DHCR7,intron_variant,,ENST00000533800,;DHCR7,intron_variant,,ENST00000534795,;DHCR7,downstream_gene_variant,,ENST00000527316,;DHCR7,downstream_gene_variant,,ENST00000534701,;	1657	32	69	SUCCESS
NADSYN1	55191	.	GRCh37	11	71202924	71202924	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	20	62	1	ENST00000319023.2:c.1739A>C	p.Asp580Ala	p.D580A	ENST00000319023	NM_018161.4	580	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS8201.1	1739	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCTGATGGAC	NONE	.	.	hmmpanther:PTHR23090:SF9,hmmpanther:PTHR23090,TIGRFAM_domain:TIGR00552,Gene3D:3.40.50.620,Pfam_domain:PF02540,PIRSF_domain:PIRSF006630,Superfamily_domains:SSF52402	.	.	ENSP00000326424	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000319023	Transcript	.	.	ENSG00000172890	29832	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.33)	.	NADE_HUMAN	NADSYN1	HGNC	E9PNF5_HUMAN,E9PND0_HUMAN	.	UPI00001404C2	SNV	NADSYN1,missense_variant,p.Asp320Ala,ENST00000539574,;NADSYN1,missense_variant,p.Asp580Ala,ENST00000319023,;NADSYN1,missense_variant,p.Asp209Ala,ENST00000530055,;NADSYN1,downstream_gene_variant,,ENST00000526039,;NADSYN1,3_prime_UTR_variant,,ENST00000525200,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000531236,;NADSYN1,upstream_gene_variant,,ENST00000530831,;	1927	63	86	SUCCESS
GPR83	10888	.	GRCh37	11	94113887	94113887	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	40	0	ENST00000243673.2:c.700C>A	p.Leu234Ile	p.L234I	ENST00000243673	NM_016540.3	234	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS8297.1	700	RADIA|MUSE|VARSCANS	.	GAAGAGGTCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF174,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000243673	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243673	Transcript	.	.	ENSG00000123901	4523	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.461)	.	tolerated(0.07)	.	GPR83_HUMAN	GPR83	HGNC	Q9H011_HUMAN	.	UPI000013CB3F	SNV	GPR83,missense_variant,p.Leu192Ile,ENST00000539203,;GPR83,missense_variant,p.Leu234Ile,ENST00000243673,;	872	40	26	SUCCESS
CNTN5	53942	.	GRCh37	11	99690405	99690405	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	39	180	0	ENST00000524871.1:c.186G>T	p.Leu62=	p.L62=	ENST00000524871	NM_014361.3	62	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS53696.1	186	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGAGTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000435637	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,synonymous_variant,p.%3D,ENST00000279463,;CNTN5,synonymous_variant,p.%3D,ENST00000524871,;CNTN5,synonymous_variant,p.%3D,ENST00000528682,;CNTN5,synonymous_variant,p.%3D,ENST00000527185,;CNTN5,intron_variant,,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	476	180	198	SUCCESS
RASAL1	8437	.	GRCh37	12	113553809	113553809	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150792397	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	56	92	0	ENST00000261729.5:c.779G>A	p.Arg260His	p.R260H	ENST00000261729		260	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS55889.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCGGTCC	NONE	byCluster	.	hmmpanther:PTHR10194:SF3,hmmpanther:PTHR10194,SMART_domains:SM00323	.	T:0.0002	ENSP00000450244	.	10/22	.	.	.	.	.	.	.	.	rs150792397	10/22	PASS	ENST00000546530	Transcript	.	.	ENSG00000111344	9873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.23)	.	RASL1_HUMAN	RASAL1	HGNC	.	.	UPI0001DD37FE	SNV	RASAL1,missense_variant,p.Arg260His,ENST00000261729,;RASAL1,missense_variant,p.Arg260His,ENST00000548055,;RASAL1,missense_variant,p.Arg260His,ENST00000446861,;RASAL1,missense_variant,p.Arg260His,ENST00000546530,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;	1065	92	119	SUCCESS
OGFOD2	79676	.	GRCh37	12	123461262	123461262	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	53	0	ENST00000228922.7:c.251T>G	p.Leu84Arg	p.L84R	ENST00000228922		84	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS41855.1	71	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTCATCG	NONE	.	.	hmmpanther:PTHR24014	.	.	ENSP00000380544	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000397389	Transcript	.	.	ENSG00000111325	25823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.17)	.	OGFD2_HUMAN	OGFOD2	HGNC	F5H145_HUMAN	.	UPI000006DEB7	SNV	OGFOD2,missense_variant,p.Leu157Arg,ENST00000537966,;OGFOD2,missense_variant,p.Leu24Arg,ENST00000397389,;OGFOD2,missense_variant,p.Leu84Arg,ENST00000228922,;OGFOD2,5_prime_UTR_variant,,ENST00000545056,;OGFOD2,5_prime_UTR_variant,,ENST00000538628,;OGFOD2,5_prime_UTR_variant,,ENST00000545317,;OGFOD2,5_prime_UTR_variant,,ENST00000545612,;OGFOD2,5_prime_UTR_variant,,ENST00000536150,;OGFOD2,5_prime_UTR_variant,,ENST00000538755,;OGFOD2,5_prime_UTR_variant,,ENST00000454694,;ABCB9,intron_variant,,ENST00000542678,;ARL6IP4,upstream_gene_variant,,ENST00000454885,;ARL6IP4,upstream_gene_variant,,ENST00000543566,;ARL6IP4,upstream_gene_variant,,ENST00000392435,;OGFOD2,upstream_gene_variant,,ENST00000536439,;ARL6IP4,upstream_gene_variant,,ENST00000412505,;ARL6IP4,upstream_gene_variant,,ENST00000439686,;ARL6IP4,upstream_gene_variant,,ENST00000315580,;ARL6IP4,upstream_gene_variant,,ENST00000413381,;ARL6IP4,upstream_gene_variant,,ENST00000426960,;ARL6IP4,upstream_gene_variant,,ENST00000453766,;ARL6IP4,upstream_gene_variant,,ENST00000357866,;ABCB9,upstream_gene_variant,,ENST00000543935,;ARL6IP4,upstream_gene_variant,,ENST00000456762,;ARL6IP4,upstream_gene_variant,,ENST00000542099,;ABCB9,upstream_gene_variant,,ENST00000392439,;ABCB9,upstream_gene_variant,,ENST00000442028,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000542940,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000541360,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000536615,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000542117,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000544358,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000535970,;OGFOD2,intron_variant,,ENST00000545033,;OGFOD2,intron_variant,,ENST00000544852,;OGFOD2,missense_variant,p.Ser102Ala,ENST00000540324,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000542037,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000545396,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000420319,;RP11-197N18.2,non_coding_transcript_exon_variant,,ENST00000540866,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000406539,;ARL6IP4,upstream_gene_variant,,ENST00000442210,;OGFOD2,upstream_gene_variant,,ENST00000545976,;ARL6IP4,upstream_gene_variant,,ENST00000540708,;ARL6IP4,upstream_gene_variant,,ENST00000540382,;ARL6IP4,upstream_gene_variant,,ENST00000536502,;ARL6IP4,upstream_gene_variant,,ENST00000392433,;ARL6IP4,upstream_gene_variant,,ENST00000539770,;ARL6IP4,upstream_gene_variant,,ENST00000539576,;	810	53	81	SUCCESS
MPHOSPH9	10198	.	GRCh37	12	123706428	123706430	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-	rs779269602	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	CTC	CTC	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	24	0	ENST00000606320.1:c.361_363del	p.Glu121del	p.E121del	ENST00000606320	NM_022782.3	121	GAG/-	0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTATCTCCTCCT	NONE	byFrequency	.	.	.	.	ENSP00000376220	.	1/20	.	.	.	.	.	.	.	.	rs779269602	1/20	PASS	ENST00000392425	Transcript	.	.	ENSG00000051825	7215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPP9_HUMAN	MPHOSPH9	HGNC	.	.	UPI00001D62B9	deletion	MPHOSPH9,inframe_deletion,p.Glu91del,ENST00000541076,;MPHOSPH9,inframe_deletion,p.Glu121del,ENST00000606320,;MPHOSPH9,5_prime_UTR_variant,,ENST00000302349,;MPHOSPH9,5_prime_UTR_variant,,ENST00000392425,;MPHOSPH9,intron_variant,,ENST00000537854,;MPHOSPH9,intron_variant,,ENST00000541437,;MPHOSPH9,intron_variant,,ENST00000539336,;MPHOSPH9,non_coding_transcript_exon_variant,,ENST00000538169,;MPHOSPH9,non_coding_transcript_exon_variant,,ENST00000539639,;MPHOSPH9,3_prime_UTR_variant,,ENST00000535049,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,upstream_gene_variant,,ENST00000302373,;MPHOSPH9,upstream_gene_variant,,ENST00000539024,;	12-14	24	32	SUCCESS
CCT2	10576	.	GRCh37	12	69986800	69986800	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	51	0	ENST00000299300.6:c.795A>G	p.Ala265=	p.A265=	ENST00000299300	NM_006431.2	265	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8991.1	795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCAGAAAT	NONE	.	.	hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	.	.	ENSP00000299300	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000299300	Transcript	.	.	ENSG00000166226	1615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPB_HUMAN	CCT2	HGNC	Q9H369_HUMAN	.	UPI0000136AF3	SNV	CCT2,synonymous_variant,p.%3D,ENST00000543146,;CCT2,synonymous_variant,p.%3D,ENST00000544368,;CCT2,synonymous_variant,p.%3D,ENST00000299300,;CCT2,synonymous_variant,p.%3D,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000548787,;CCT2,non_coding_transcript_exon_variant,,ENST00000553169,;CCT2,downstream_gene_variant,,ENST00000546850,;CCT2,downstream_gene_variant,,ENST00000546859,;CCT2,downstream_gene_variant,,ENST00000551620,;CCT2,downstream_gene_variant,,ENST00000550638,;	983	51	77	SUCCESS
PHB2	11331	.	GRCh37	12	7076910	7076910	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	41	0	ENST00000535923.1:c.640G>C	p.Val214Leu	p.V214L	ENST00000535923	NM_001144831.1	214	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS53741.1	640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTACCAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23222,Pfam_domain:PF01145,Prints_domain:PR00679	.	.	ENSP00000441875	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000535923	Transcript	.	.	ENSG00000215021	30306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PHB2_HUMAN	PHB2	HGNC	Q9BXV3_HUMAN	.	UPI00000292BE	SNV	PHB2,missense_variant,p.Val250Leu,ENST00000545167,;PHB2,missense_variant,p.Val214Leu,ENST00000535923,;PHB2,missense_variant,p.Val214Leu,ENST00000399433,;PHB2,missense_variant,p.Val214Leu,ENST00000542912,;PHB2,intron_variant,,ENST00000546111,;PHB2,intron_variant,,ENST00000440277,;PHB2,intron_variant,,ENST00000545555,;PHB2,downstream_gene_variant,,ENST00000536316,;EMG1,upstream_gene_variant,,ENST00000261406,;SCARNA12,upstream_gene_variant,,ENST00000459155,;U47924.27,downstream_gene_variant,,ENST00000537269,;MIR200C,downstream_gene_variant,,ENST00000384980,;MIR141,downstream_gene_variant,,ENST00000384975,;U47924.29,downstream_gene_variant,,ENST00000606539,;EMG1,intron_variant,,ENST00000607161,;EMG1,upstream_gene_variant,,ENST00000541016,;EMG1,upstream_gene_variant,,ENST00000564245,;PHB2,downstream_gene_variant,,ENST00000544134,;EMG1,upstream_gene_variant,,ENST00000539196,;EMG1,upstream_gene_variant,,ENST00000546220,;EMG1,upstream_gene_variant,,ENST00000539535,;PHB2,3_prime_UTR_variant,,ENST00000544888,;PHB2,non_coding_transcript_exon_variant,,ENST00000543465,;EMG1,upstream_gene_variant,,ENST00000451846,;EMG1,upstream_gene_variant,,ENST00000539440,;PHB2,downstream_gene_variant,,ENST00000546217,;PHB2,downstream_gene_variant,,ENST00000542294,;PHB2,upstream_gene_variant,,ENST00000537646,;	922	41	52	SUCCESS
F10	2159	.	GRCh37	13	113793724	113793724	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778616029	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	61	0	ENST00000375559.3:c.310G>T	p.Gly104Cys	p.G104C	ENST00000375559	NM_000504.3	104	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS9530.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGGCCTC	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24265:SF40,hmmpanther:PTHR24265,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,PIRSF_domain:PIRSF001143,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000364709	.	4/8	.	.	.	.	.	.	.	.	rs778616029	4/8	PASS	ENST00000375559	Transcript	.	.	ENSG00000126218	3528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FA10_HUMAN	F10	HGNC	Q5JVE7_HUMAN	.	UPI000000DB39	SNV	F10,missense_variant,p.Gly104Cys,ENST00000375559,;F10,missense_variant,p.Gly104Cys,ENST00000409306,;F10,missense_variant,p.Gly104Cys,ENST00000375551,;F10,missense_variant,p.Gly104Cys,ENST00000410083,;F10,non_coding_transcript_exon_variant,,ENST00000477269,;F10,upstream_gene_variant,,ENST00000498455,;	348	61	89	SUCCESS
DIS3	22894	.	GRCh37	13	73346392	73346392	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	40	0	ENST00000377767.4:c.1408C>A	p.Leu470Met	p.L470M	ENST00000377767	NM_014953.3	470	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9447.1	1408	MUTECT|MUSE	.	CCTCAGGTCTT	NONE	.	.	Superfamily_domains:SSF50249,SMART_domains:SM00955,Pfam_domain:PF00773,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35	.	.	ENSP00000366997	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000377767	Transcript	.	.	ENSG00000083520	20604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	RRP44_HUMAN	DIS3	HGNC	G3V1J5_HUMAN,B3KM83_HUMAN	.	UPI0000141B79	SNV	DIS3,missense_variant,p.Leu308Met,ENST00000545453,;DIS3,missense_variant,p.Leu470Met,ENST00000377767,;DIS3,missense_variant,p.Leu440Met,ENST00000377780,;DIS3,non_coding_transcript_exon_variant,,ENST00000469339,;DIS3,missense_variant,p.Leu470Met,ENST00000490646,;	1509	40	42	SUCCESS
SLC25A21-AS1	100129794	.	GRCh37	14	37641732	37641732	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	11	0	ENST00000556667.1:c.142G>C	p.Ala48Pro	p.A48P	ENST00000556667		48	Gcg/Ccg	0	.	.	.	.	.	C	A/P	protein_coding	YES	.	142	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCGCGATC	NONE	.	.	.	.	.	ENSP00000452326	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000556667	Transcript	.	.	ENSG00000258708	44298	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	SLC25A21-AS1	HGNC	G3V5F6_HUMAN	.	UPI0000371BDC	SNV	SLC25A21-AS1,missense_variant,p.Ala48Pro,ENST00000556667,;SLC25A21,5_prime_UTR_variant,,ENST00000331299,;SLC25A21,upstream_gene_variant,,ENST00000555449,;SLC25A21,upstream_gene_variant,,ENST00000557611,;	640	11	18	SUCCESS
MNAT1	4331	.	GRCh37	14	61275080	61275080	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	210	409	1	ENST00000261245.4:c.354C>T	p.Thr118=	p.T118=	ENST00000261245	NM_002431.3	118	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9750.1	354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACCAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF003338,TIGRFAM_domain:TIGR00570,Pfam_domain:PF06391,hmmpanther:PTHR12683	.	.	ENSP00000261245	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000261245	Transcript	.	.	ENSG00000020426	7181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAT1_HUMAN	MNAT1	HGNC	H0YJ92_HUMAN	.	UPI000002FC14	SNV	MNAT1,synonymous_variant,p.%3D,ENST00000261245,;MNAT1,synonymous_variant,p.%3D,ENST00000554002,;MNAT1,synonymous_variant,p.%3D,ENST00000539616,;MNAT1,upstream_gene_variant,,ENST00000557134,;MNAT1,non_coding_transcript_exon_variant,,ENST00000556525,;MNAT1,non_coding_transcript_exon_variant,,ENST00000553354,;MNAT1,non_coding_transcript_exon_variant,,ENST00000556764,;MNAT1,upstream_gene_variant,,ENST00000554641,;	455	410	437	SUCCESS
LTK	4058	.	GRCh37	15	41803628	41803628	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761427498	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	10	0	ENST00000263800.6:c.806G>C	p.Gly269Ala	p.G269A	ENST00000263800	NM_002344.5	269	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS10077.1	806	MUTECT|MUSE	.	CCGCCCCGCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416,Pfam_domain:PF12810	.	.	ENSP00000263800	.	6/20	.	.	.	.	.	.	.	.	rs761427498	6/20	PASS	ENST00000263800	Transcript	.	.	ENSG00000062524	6721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	tolerated_low_confidence(0.16)	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,missense_variant,p.Gly269Ala,ENST00000263800,;LTK,missense_variant,p.Gly269Ala,ENST00000453182,;LTK,missense_variant,p.Gly269Ala,ENST00000355166,;LTK,intron_variant,,ENST00000561619,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,upstream_gene_variant,,ENST00000569283,;	903	10	14	SUCCESS
APH1B	83464	.	GRCh37	15	63571457	63571457	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	13	112	0	ENST00000261879.5:c.211C>T	p.Leu71=	p.L71=	ENST00000261879	NM_031301.3	71	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10184.1	211	MUTECT|MUSE|VARSCANS	.	AATATCTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12889,hmmpanther:PTHR12889:SF1,Pfam_domain:PF06105	.	.	ENSP00000261879	.	2/6	.	.	.	.	.	.	.	.	COSM4056103	2/6	PASS	ENST00000261879	Transcript	.	.	ENSG00000138613	24080	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	APH1B_HUMAN	APH1B	HGNC	H0YKZ9_HUMAN	.	UPI000004222D	SNV	APH1B,synonymous_variant,p.%3D,ENST00000560890,;APH1B,synonymous_variant,p.%3D,ENST00000380343,;APH1B,synonymous_variant,p.%3D,ENST00000560353,;APH1B,synonymous_variant,p.%3D,ENST00000261879,;APH1B,downstream_gene_variant,,ENST00000559744,;APH1B,3_prime_UTR_variant,,ENST00000559971,;APH1B,3_prime_UTR_variant,,ENST00000380340,;	281	112	141	SUCCESS
NOX5	79400	.	GRCh37	15	69331285	69331285	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs148791297	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	63	88	0	ENST00000388866.3:c.1460A>G	p.Tyr487Cys	p.Y487C	ENST00000388866	NM_024505.3	487	tAt/tGt	0	G:0.0039	G:0.0023	.	G:0	.	G	Y/C	protein_coding	YES	CCDS32276.2	1460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTATGAGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF36,hmmpanther:PTHR11972,Gene3D:2.40.30.10,Pfam_domain:PF08022,Superfamily_domains:SSF63380	G:0	G:0	ENSP00000373518	G:0	9/16	.	.	.	.	.	.	.	.	rs148791297	9/16	PASS	ENST00000388866	Transcript	.	G:0.0006	ENSG00000255346	14874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	G:0	deleterious(0)	.	NOX5_HUMAN	NOX5	HGNC	.	.	UPI000006DDBD	SNV	NOX5,missense_variant,p.Tyr459Cys,ENST00000530406,;NOX5,missense_variant,p.Tyr487Cys,ENST00000388866,;NOX5,missense_variant,p.Tyr441Cys,ENST00000448182,;NOX5,missense_variant,p.Tyr452Cys,ENST00000455873,;NOX5,missense_variant,p.Tyr469Cys,ENST00000260364,;RP11-809H16.4,intron_variant,,ENST00000559495,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;NOX5,intron_variant,,ENST00000525143,;	1501	88	141	SUCCESS
PSTPIP1	9051	.	GRCh37	15	77310541	77310541	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	9	94	1	ENST00000558012.1:c.89T>C	p.Leu30Pro	p.L30P	ENST00000558012	NM_003978.3	30	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS45312.1	89	RADIA|MUTECT|VARSCANS	.	GCTTCTGGATG	NONE	.	.	PROSITE_profiles:PS50133,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF3,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657	.	.	ENSP00000452746	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000558012	Transcript	1	.	ENSG00000140368	9580	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.718)	.	tolerated(0.21)	.	PPIP1_HUMAN	PSTPIP1	HGNC	.	.	UPI00000703D7	SNV	PSTPIP1,missense_variant,p.Leu21Pro,ENST00000559859,;PSTPIP1,missense_variant,p.Leu95Pro,ENST00000558407,;PSTPIP1,missense_variant,p.Leu29Pro,ENST00000267939,;PSTPIP1,missense_variant,p.Leu30Pro,ENST00000559295,;PSTPIP1,missense_variant,p.Leu30Pro,ENST00000558012,;PSTPIP1,missense_variant,p.Leu30Pro,ENST00000559161,;PSTPIP1,missense_variant,p.Leu30Pro,ENST00000379595,;PSTPIP1,upstream_gene_variant,,ENST00000559856,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560621,;PSTPIP1,missense_variant,p.Leu95Pro,ENST00000559785,;PSTPIP1,missense_variant,p.Leu30Pro,ENST00000559750,;PSTPIP1,3_prime_UTR_variant,,ENST00000560223,;PSTPIP1,5_prime_UTR_variant,,ENST00000560796,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000559795,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560377,;	578	96	92	SUCCESS
SLCO3A1	28232	.	GRCh37	15	92397220	92397220	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	105	0	ENST00000318445.6:c.82A>G	p.Lys28Glu	p.K28E	ENST00000318445	NM_013272.3	28	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10371.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGAAAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805	.	.	ENSP00000320634	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000318445	Transcript	.	.	ENSG00000176463	10952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	SO3A1_HUMAN	SLCO3A1	HGNC	.	.	UPI00001AF1F7	SNV	SLCO3A1,missense_variant,p.Lys28Glu,ENST00000318445,;SLCO3A1,missense_variant,p.Lys28Glu,ENST00000424469,;SLCO3A1,upstream_gene_variant,,ENST00000553304,;SLCO3A1,upstream_gene_variant,,ENST00000555769,;SLCO3A1,upstream_gene_variant,,ENST00000555111,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	296	105	94	SUCCESS
HYDIN	54768	.	GRCh37	16	70841914	70841914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	57	86	1	ENST00000393567.2:c.14935G>T	p.Gly4979Cys	p.G4979C	ENST00000393567	NM_001270974.1	4979	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS59269.1	14935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCTCCTG	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	86/86	.	.	.	.	.	.	.	.	.	86/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Gly4979Cys,ENST00000393567,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	15086	87	113	SUCCESS
ZFHX3	463	.	GRCh37	16	72828036	72828036	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	69	0	ENST00000268489.5:c.8545G>C	p.Asp2849His	p.D2849H	ENST00000268489	NM_006885.3	2849	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS10908.1	8545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTCTCCAG	NONE	.	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208	.	.	ENSP00000268489	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Asp1935His,ENST00000397992,;ZFHX3,missense_variant,p.Asp2849His,ENST00000268489,;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;	9218	69	80	SUCCESS
LDHD	197257	.	GRCh37	16	75147448	75147448	+	synonymous_variant	Silent	SNP	C	C	A	rs916656057	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	51	0	ENST00000300051.4:c.1140G>T	p.Thr380=	p.T380=	ENST00000300051	NM_153486.3	380	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10913.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGCGTGGC	NONE	.	.	hmmpanther:PTHR11748:SF72,hmmpanther:PTHR11748,Pfam_domain:PF02913,Superfamily_domains:SSF55103	.	.	ENSP00000300051	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000300051	Transcript	.	.	ENSG00000166816	19708	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDHD_HUMAN	LDHD	HGNC	.	.	UPI0000062302	SNV	LDHD,synonymous_variant,p.%3D,ENST00000300051,;LDHD,synonymous_variant,p.%3D,ENST00000450168,;ZNRF1,downstream_gene_variant,,ENST00000320619,;ZNRF1,downstream_gene_variant,,ENST00000568351,;ZNRF1,downstream_gene_variant,,ENST00000335325,;RP11-252E2.1,upstream_gene_variant,,ENST00000499110,;LDHD,downstream_gene_variant,,ENST00000569876,;ZNRF1,downstream_gene_variant,,ENST00000568844,;LDHD,downstream_gene_variant,,ENST00000568164,;	1187	51	57	SUCCESS
ZC3H18	124245	.	GRCh37	16	88696976	88696976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	27	0	ENST00000301011.5:c.2650G>T	p.Ala884Ser	p.A884S	ENST00000301011	NM_144604.3	884	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS10967.1	2650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCCCCG	NONE	.	.	hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10	.	.	ENSP00000301011	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000301011	Transcript	.	.	ENSG00000158545	25091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated_low_confidence(0.06)	.	ZCH18_HUMAN	ZC3H18	HGNC	H3BRH3_HUMAN,B3KRL4_HUMAN	.	UPI00001FF676	SNV	ZC3H18,missense_variant,p.Ala908Ser,ENST00000452588,;ZC3H18,missense_variant,p.Ala884Ser,ENST00000301011,;ZC3H18,missense_variant,p.Ala127Ser,ENST00000565583,;ZC3H18,intron_variant,,ENST00000564341,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566496,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566660,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566317,;ZC3H18,downstream_gene_variant,,ENST00000563382,;ZC3H18,downstream_gene_variant,,ENST00000564161,;	2850	27	16	SUCCESS
MYH13	8735	.	GRCh37	17	10223741	10223741	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	61	84	0	ENST00000252172.4:c.3184G>A	p.Asp1062Asn	p.D1062N	ENST00000252172	NM_003802.2	1062	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS45613.1	3184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCTCCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Superfamily_domains:SSF90257	.	.	ENSP00000404570	.	24/41	.	.	.	.	.	.	.	.	COSM3889197,COSM3889196	24/41	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.322)	.	deleterious(0.01)	1,1	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,missense_variant,p.Asp1062Asn,ENST00000418404,;MYH13,missense_variant,p.Asp1062Asn,ENST00000252172,;RP11-401O9.3,non_coding_transcript_exon_variant,,ENST00000577743,;RP11-401O9.4,downstream_gene_variant,,ENST00000609088,;	3348	84	72	SUCCESS
MYH3	4621	.	GRCh37	17	10549294	10549294	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	9	190	0	ENST00000583535.1:c.954G>A	p.Glu318=	p.E318=	ENST00000583535	NM_002470.3	318	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS11157.1	954	MUTECT|MUSE	.	AGGATCTCCCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000464317	.	11/41	.	.	.	.	.	.	.	.	.	11/41	PASS	ENST00000583535	Transcript	.	.	ENSG00000109063	7573	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH3_HUMAN	MYH3	HGNC	.	.	UPI000013C892	SNV	MYH3,synonymous_variant,p.%3D,ENST00000583535,;MYH3,synonymous_variant,p.%3D,ENST00000226209,;MYH3,downstream_gene_variant,,ENST00000579489,;	1042	190	173	SUCCESS
AP2B1	163	.	GRCh37	17	33935332	33935332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	101	98	0	ENST00000312678.8:c.451A>G	p.Ile151Val	p.I151V	ENST00000312678	NM_001030006.1	151	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32621.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATATCAAT	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Pfam_domain:PF01602,Gene3D:1.25.10.10,SMART_domains:SM00185,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371	.	.	ENSP00000314414	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.08)	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,missense_variant,p.Ile151Val,ENST00000589344,;AP2B1,missense_variant,p.Ile151Val,ENST00000589774,;AP2B1,missense_variant,p.Ile151Val,ENST00000262325,;AP2B1,missense_variant,p.Ile151Val,ENST00000312678,;AP2B1,missense_variant,p.Ile113Val,ENST00000592545,;AP2B1,missense_variant,p.Ile151Val,ENST00000537622,;AP2B1,missense_variant,p.Ile94Val,ENST00000538556,;AP2B1,downstream_gene_variant,,ENST00000593014,;AP2B1,downstream_gene_variant,,ENST00000590432,;AP2B1,non_coding_transcript_exon_variant,,ENST00000591561,;AP2B1,3_prime_UTR_variant,,ENST00000592191,;AP2B1,downstream_gene_variant,,ENST00000590538,;AP2B1,downstream_gene_variant,,ENST00000591610,;AP2B1,downstream_gene_variant,,ENST00000592167,;	581	98	167	SUCCESS
TOP2A	7153	.	GRCh37	17	38560724	38560724	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	82	110	2	ENST00000423485.1:c.2066C>A	p.Thr689Asn	p.T689N	ENST00000423485	NM_001067.3	689	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS45672.1	2066	RADIA|SOMATICSNIPER|VARSCANS	.	TGGTAGTTTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Superfamily_domains:SSF56719	.	.	ENSP00000411532	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000423485	Transcript	.	.	ENSG00000131747	11989	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.43)	.	TOP2A_HUMAN	TOP2A	HGNC	J3QR57_HUMAN,J3KTB7_HUMAN	.	UPI0000137195	SNV	TOP2A,missense_variant,p.Thr689Asn,ENST00000423485,;	2225	112	152	SUCCESS
KRT33B	3884	.	GRCh37	17	39521232	39521232	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199838257	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	68	81	1	ENST00000251646.3:c.896C>T	p.Thr299Met	p.T299M	ENST00000251646	NM_002279.4	299	aCg/aTg	0	.	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS11389.1	896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGTGTTT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,Gene3D:1.20.5.170,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	A:0.001	.	ENSP00000251646	A:0	6/7	.	.	.	.	.	.	.	.	rs199838257	6/7	PASS	ENST00000251646	Transcript	.	A:0.0002	ENSG00000131738	6451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	A:0	deleterious(0.04)	.	KT33B_HUMAN	KRT33B	HGNC	.	.	UPI000012DAFE	SNV	KRT33B,missense_variant,p.Thr299Met,ENST00000251646,;	946	82	122	SUCCESS
PHOSPHO1	162466	.	GRCh37	17	47302389	47302389	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	9	0	ENST00000310544.4:c.46-23G>T		p.*16*	ENST00000310544		33		0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS45726.1	98	MUTECT|MUSE	.	AGCAGCAGGAG	CODON|p.S32delS|c.95_97delCCT|3	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51257,PIRSF_domain:PIRSF031051	.	.	ENSP00000406909	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000413580	Transcript	.	.	ENSG00000173868	16815	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.094)	.	tolerated_low_confidence(0.74)	.	PHOP1_HUMAN	PHOSPHO1	HGNC	D6RIT6_HUMAN	.	UPI000189C296	SNV	PHOSPHO1,missense_variant,p.Cys91Phe,ENST00000503902,;PHOSPHO1,missense_variant,p.Cys33Phe,ENST00000413580,;PHOSPHO1,missense_variant,p.Cys33Phe,ENST00000514112,;PHOSPHO1,missense_variant,p.Cys33Phe,ENST00000512250,;PHOSPHO1,intron_variant,,ENST00000574638,;PHOSPHO1,intron_variant,,ENST00000511066,;PHOSPHO1,intron_variant,,ENST00000310544,;ABI3,downstream_gene_variant,,ENST00000419580,;ABI3,downstream_gene_variant,,ENST00000225941,;ABI3,downstream_gene_variant,,ENST00000571035,;ABI3,downstream_gene_variant,,ENST00000573347,;	516	9	11	SUCCESS
TBX2	6909	.	GRCh37	17	59482800	59482800	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	12	0	ENST00000240328.3:c.1289G>A	p.Arg430Gln	p.R430Q	ENST00000240328	NM_005994.3	430	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11627.2	1289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11267:SF82,hmmpanther:PTHR11267	.	.	ENSP00000240328	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000240328	Transcript	.	.	ENSG00000121068	11597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.08)	.	TBX2_HUMAN	TBX2	HGNC	.	.	UPI000020116F	SNV	TBX2,missense_variant,p.Arg430Gln,ENST00000240328,;RP11-332H18.4,intron_variant,,ENST00000592009,;TBX2,upstream_gene_variant,,ENST00000586986,;TBX2,3_prime_UTR_variant,,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;	1570	12	14	SUCCESS
MRC2	9902	.	GRCh37	17	60767109	60767109	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	24	0	ENST00000303375.5:c.3561G>A	p.Leu1187=	p.L1187=	ENST00000303375	NM_006039.4	1187	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11634.1	3561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGGCTGG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000307513	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,synonymous_variant,p.%3D,ENST00000303375,;MRC2,intron_variant,,ENST00000446119,;MRC2,intron_variant,,ENST00000580916,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;	3963	24	26	SUCCESS
ACE	1636	.	GRCh37	17	61568363	61568363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	85	2	ENST00000290866.4:c.2690C>A	p.Pro897His	p.P897H	ENST00000290866	NM_000789.3	897	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS11637.1	2690	SOMATICSNIPER|VARSCANS	.	GGTGCCCTTCC	NONE	.	.	hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	.	.	ENSP00000290866	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000290866	Transcript	.	.	ENSG00000159640	2707	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACE_HUMAN	ACE	HGNC	Q3KRI5_HUMAN,D3DU13_HUMAN	.	UPI000002B8AD	SNV	ACE,missense_variant,p.Pro323His,ENST00000490216,;ACE,missense_variant,p.Pro897His,ENST00000428043,;ACE,missense_variant,p.Pro897His,ENST00000290866,;ACE,missense_variant,p.Pro153His,ENST00000582761,;ACE,missense_variant,p.Pro323His,ENST00000290863,;ACE,missense_variant,p.Pro323His,ENST00000413513,;ACE,missense_variant,p.Pro143His,ENST00000421982,;ACE,upstream_gene_variant,,ENST00000579409,;ACE,intron_variant,,ENST00000577418,;ACE,missense_variant,p.Pro323His,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,non_coding_transcript_exon_variant,,ENST00000584865,;ACE,non_coding_transcript_exon_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000582005,;ACE,downstream_gene_variant,,ENST00000579204,;ACE,downstream_gene_variant,,ENST00000579726,;ACE,upstream_gene_variant,,ENST00000578679,;	2714	87	111	SUCCESS
OTOP2	92736	.	GRCh37	17	72921033	72921033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	37	0	ENST00000331427.4:c.306G>T	p.Trp102Cys	p.W102C	ENST00000331427	NM_178160.2	102	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS11708.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGCTCCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21522:SF35,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000332528	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000331427	Transcript	.	.	ENSG00000183034	19657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	OTOP2_HUMAN	OTOP2	HGNC	.	.	UPI000018F613	SNV	OTOP2,missense_variant,p.Trp102Cys,ENST00000580223,;OTOP2,missense_variant,p.Trp102Cys,ENST00000331427,;USH1G,upstream_gene_variant,,ENST00000319642,;OTOP2,non_coding_transcript_exon_variant,,ENST00000584711,;USH1G,upstream_gene_variant,,ENST00000579243,;	398	37	57	SUCCESS
ASXL3	80816	.	GRCh37	18	31319755	31319755	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	63	0	ENST00000269197.5:c.2387A>T	p.Asn796Ile	p.N796I	ENST00000269197	NM_030632.1	796	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS45847.1	2387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAACCTTA	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Asn796Ile,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	2387	63	57	SUCCESS
FHOD3	80206	.	GRCh37	18	34289345	34289345	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	61	121	0	ENST00000359247.4:c.1948A>T	p.Arg650Trp	p.R650W	ENST00000359247	NM_001281739.1	650	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32816.1	1999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACAGGACA	NONE	.	.	hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213	.	.	ENSP00000257209	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0.01)	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Arg629Trp,ENST00000445677,;FHOD3,missense_variant,p.Arg428Trp,ENST00000592930,;FHOD3,missense_variant,p.Arg667Trp,ENST00000257209,;FHOD3,missense_variant,p.Arg842Trp,ENST00000590592,;FHOD3,missense_variant,p.Arg650Trp,ENST00000359247,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	2121	121	94	SUCCESS
WDR7	23335	.	GRCh37	18	54358525	54358525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759312541	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	71	0	ENST00000254442.3:c.796G>A	p.Val266Ile	p.V266I	ENST00000254442	NM_015285.2	266	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS11962.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTGTCTCA	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48	.	.	ENSP00000254442	.	8/28	.	.	.	.	.	.	.	.	rs759312541	8/28	PASS	ENST00000254442	Transcript	.	.	ENSG00000091157	13490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.76)	.	WDR7_HUMAN	WDR7	HGNC	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN	.	UPI000013CE33	SNV	WDR7,missense_variant,p.Val266Ile,ENST00000254442,;WDR7,missense_variant,p.Val266Ile,ENST00000357574,;WDR7,intron_variant,,ENST00000589935,;WDR7,upstream_gene_variant,,ENST00000585754,;	1007	71	63	SUCCESS
DOCK6	57572	.	GRCh37	19	11339631	11339631	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	52	0	ENST00000294618.7:c.2799C>A	p.Phe933Leu	p.F933L	ENST00000294618	NM_020812.3	933	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS45975.1	2799	MUTECT|MUSE	.	AAGAAGAACCA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	.	.	ENSP00000294618	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000294618	Transcript	1	.	ENSG00000130158	19189	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.216)	.	deleterious(0.01)	.	DOCK6_HUMAN	DOCK6	HGNC	.	.	UPI000059D66F	SNV	DOCK6,missense_variant,p.Phe412Leu,ENST00000590680,;DOCK6,missense_variant,p.Phe272Leu,ENST00000319867,;DOCK6,missense_variant,p.Phe933Leu,ENST00000294618,;DOCK6,missense_variant,p.Phe222Leu,ENST00000587656,;DOCK6,downstream_gene_variant,,ENST00000585904,;RN7SL298P,downstream_gene_variant,,ENST00000581369,;DOCK6,non_coding_transcript_exon_variant,,ENST00000590452,;	2811	52	76	SUCCESS
ZNF439	90594	.	GRCh37	19	11976931	11976931	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs531950679	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	26	0	ENST00000304030.2:c.-41G>T		p.*14*	ENST00000304030	NM_152262.2			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS12268.1	.	MUTECT|MUSE	.	TCCACGGCATC	NONE	by1000G	.	.	A:0.001	.	ENSP00000305077	A:0	1/3	.	.	.	.	.	.	.	.	rs531950679	1/3	PASS	ENST00000304030	Transcript	.	A:0.0002	ENSG00000171291	20873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	ZN439_HUMAN	ZNF439	HGNC	C9JMA7_HUMAN	.	UPI000006F768	SNV	ZNF439,5_prime_UTR_variant,,ENST00000304030,;ZNF439,intron_variant,,ENST00000455282,;ZNF439,intron_variant,,ENST00000442091,;ZNF439,intron_variant,,ENST00000592534,;	160	26	50	SUCCESS
TRMT1	55621	.	GRCh37	19	13220610	13220610	+	synonymous_variant	Silent	SNP	C	C	T	rs754696958	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	37	0	ENST00000357720.4:c.1149G>A	p.Glu383=	p.E383=	ENST00000357720	NM_001136035.2	383	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS12293.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACTCGGG	NONE	byFrequency	.	PROSITE_profiles:PS51626,hmmpanther:PTHR10631:SF3,hmmpanther:PTHR10631,Pfam_domain:PF02005,TIGRFAM_domain:TIGR00308	.	.	ENSP00000466967	.	11/18	.	.	.	.	.	.	.	.	rs754696958	11/18	PASS	ENST00000592062	Transcript	.	.	ENSG00000104907	25980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRM1_HUMAN	TRMT1	HGNC	K7EQY6_HUMAN,K7EJX9_HUMAN,B4E3A3_HUMAN,B4DHS5_HUMAN	.	UPI0000000A02	SNV	TRMT1,synonymous_variant,p.%3D,ENST00000437766,;TRMT1,synonymous_variant,p.%3D,ENST00000592062,;TRMT1,synonymous_variant,p.%3D,ENST00000587487,;TRMT1,synonymous_variant,p.%3D,ENST00000357720,;TRMT1,synonymous_variant,p.%3D,ENST00000221504,;TRMT1,downstream_gene_variant,,ENST00000592814,;TRMT1,downstream_gene_variant,,ENST00000593257,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593157,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,upstream_gene_variant,,ENST00000586830,;TRMT1,upstream_gene_variant,,ENST00000585435,;TRMT1,downstream_gene_variant,,ENST00000591717,;TRMT1,downstream_gene_variant,,ENST00000587633,;	1720	37	56	SUCCESS
EMR3	0	.	GRCh37	19	14740911	14740911	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	50	0	ENST00000253673.5:c.1752C>A	p.Thr584=	p.T584=	ENST00000253673	NM_032571.3	584	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12315.1	1752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGGTGAA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00249,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178,PROSITE_profiles:PS50261	.	.	ENSP00000253673	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,synonymous_variant,p.%3D,ENST00000253673,;EMR3,synonymous_variant,p.%3D,ENST00000599900,;EMR3,synonymous_variant,p.%3D,ENST00000344373,;EMR3,synonymous_variant,p.%3D,ENST00000443157,;	1853	50	72	SUCCESS
ILVBL	10994	.	GRCh37	19	15233713	15233713	+	synonymous_variant	Silent	SNP	C	C	A	rs765570027	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	28	0	ENST00000263383.3:c.594G>T	p.Ser198=	p.S198=	ENST00000263383	NM_006844.4	198	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12325.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCGACTG	NONE	byFrequency	.	Superfamily_domains:SSF52518,Gene3D:3.40.50.970,Pfam_domain:PF02776,hmmpanther:PTHR18968:SF127,hmmpanther:PTHR18968	.	.	ENSP00000263383	.	5/16	.	.	.	.	.	.	.	.	rs765570027	5/16	PASS	ENST00000263383	Transcript	.	.	ENSG00000105135	6041	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ILVBL_HUMAN	ILVBL	HGNC	M0R1B5_HUMAN,M0R026_HUMAN,M0QZX5_HUMAN,E9PL44_HUMAN,E9PJS0_HUMAN	.	UPI000007055E	SNV	ILVBL,synonymous_variant,p.%3D,ENST00000527093,;ILVBL,synonymous_variant,p.%3D,ENST00000600984,;ILVBL,synonymous_variant,p.%3D,ENST00000534378,;ILVBL,synonymous_variant,p.%3D,ENST00000263383,;ILVBL,intron_variant,,ENST00000598709,;ILVBL,downstream_gene_variant,,ENST00000533747,;AC003956.1,upstream_gene_variant,,ENST00000598450,;ILVBL,non_coding_transcript_exon_variant,,ENST00000531635,;ILVBL,3_prime_UTR_variant,,ENST00000533148,;ILVBL,non_coding_transcript_exon_variant,,ENST00000533086,;ILVBL,upstream_gene_variant,,ENST00000524779,;ILVBL,downstream_gene_variant,,ENST00000599324,;ILVBL,upstream_gene_variant,,ENST00000525880,;	734	28	39	SUCCESS
LSR	51599	.	GRCh37	19	35740010	35740010	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1167044758	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	67	0	ENST00000361790.3:c.229C>T	p.Leu77Phe	p.L77F	ENST00000361790	NM_205834.3	77	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS12450.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCTTCTG	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF1	.	.	ENSP00000354575	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000361790	Transcript	.	.	ENSG00000105699	29572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.375)	.	tolerated(0.22)	.	LSR_HUMAN	LSR	HGNC	.	.	UPI000003117A	SNV	LSR,missense_variant,p.Leu3Phe,ENST00000601623,;LSR,missense_variant,p.Leu77Phe,ENST00000360798,;LSR,missense_variant,p.Leu77Phe,ENST00000361790,;LSR,missense_variant,p.Leu36Phe,ENST00000605618,;LSR,missense_variant,p.Leu29Phe,ENST00000427250,;LSR,missense_variant,p.Leu77Phe,ENST00000602122,;LSR,missense_variant,p.Leu77Phe,ENST00000354900,;LSR,intron_variant,,ENST00000602003,;LSR,intron_variant,,ENST00000347609,;LSR,upstream_gene_variant,,ENST00000599658,;AC002128.5,downstream_gene_variant,,ENST00000604161,;LSR,intron_variant,,ENST00000597933,;LSR,upstream_gene_variant,,ENST00000602044,;	388	67	85	SUCCESS
KMT2B	9757	.	GRCh37	19	36221665	36221665	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	58	0	ENST00000222270.7:c.5334C>A	p.Cys1778Ter	p.C1778*	ENST00000222270	NM_014727.1	1778	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS46055.1	5334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGCCGAAT	NONE	.	.	PROSITE_profiles:PS51542,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,Pfam_domain:PF05964,SMART_domains:SM00541,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	26/37	.	.	.	.	.	.	.	.	.	26/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,stop_gained,p.Cys1778Ter,ENST00000420124,;KMT2B,stop_gained,p.Cys1778Ter,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	5334	58	79	SUCCESS
MATK	4145	.	GRCh37	19	3785135	3785135	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs772163315	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	34	0	ENST00000310132.6:c.-2C>T		p.*1*	ENST00000310132	NM_139355.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCGCCCCC	NONE	.	.	.	.	.	ENSP00000378485	.	.	.	.	.	.	.	.	.	.	rs772163315	.	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	MODIFIER	2/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,5_prime_UTR_variant,,ENST00000585778,;MATK,5_prime_UTR_variant,,ENST00000591059,;MATK,5_prime_UTR_variant,,ENST00000310132,;MATK,5_prime_UTR_variant,,ENST00000590028,;MATK,intron_variant,,ENST00000395045,;MATK,intron_variant,,ENST00000395040,;MATK,intron_variant,,ENST00000590849,;MATK,upstream_gene_variant,,ENST00000587180,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,upstream_gene_variant,,ENST00000590493,;MATK,downstream_gene_variant,,ENST00000590821,;	.	34	43	SUCCESS
KCNK6	9424	.	GRCh37	19	38818018	38818018	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371433357	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	37	0	ENST00000263372.3:c.917C>T	p.Thr306Ile	p.T306I	ENST00000263372	NM_004823.1	306	aCc/aTc	0	T:0	.	.	.	.	T	T/I	protein_coding	YES	CCDS12513.1	917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACCGACT	NONE	byCluster	.	PIRSF_domain:PIRSF038061	.	T:0.0001	ENSP00000263372	.	3/3	.	.	.	.	.	.	.	.	rs371433357	3/3	PASS	ENST00000263372	Transcript	.	.	ENSG00000099337	6281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.08)	.	KCNK6_HUMAN	KCNK6	HGNC	B2RDS2_HUMAN	.	UPI0000030CB7	SNV	KCNK6,missense_variant,p.Thr306Ile,ENST00000263372,;AC026806.2,upstream_gene_variant,,ENST00000602211,;KCNK6,downstream_gene_variant,,ENST00000588137,;	1024	37	38	SUCCESS
ZNF320	162967	.	GRCh37	19	53384284	53384284	+	synonymous_variant	Silent	SNP	A	A	C	rs770951436	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	56	0	ENST00000391781.2:c.1095T>G	p.Ala365=	p.A365=	ENST00000391781		365	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS33095.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAAGCCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000473091	.	8/8	.	.	.	.	.	.	.	.	rs770951436	8/8	PASS	ENST00000595635	Transcript	.	.	ENSG00000182986	13842	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN320_HUMAN	ZNF320	HGNC	Q6ZP55_HUMAN,M0R2L4_HUMAN,M0R1K6_HUMAN,M0R0Z8_HUMAN,M0QZA2_HUMAN	.	UPI00004EC06C	SNV	ZNF320,synonymous_variant,p.%3D,ENST00000595635,;ZNF320,synonymous_variant,p.%3D,ENST00000391781,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,downstream_gene_variant,,ENST00000594741,;ZNF320,downstream_gene_variant,,ENST00000597265,;ZNF320,downstream_gene_variant,,ENST00000597091,;ZNF320,downstream_gene_variant,,ENST00000593618,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;	1597	56	90	SUCCESS
NBPF14	25832	.	GRCh37	1	148004618	148004618	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs143743039	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	231	314	0	ENST00000310701.10:c.2714A>G	p.Asn905Ser	p.N905S	ENST00000310701		905	aAt/aGt	0	C:0	C:0.0008	.	C:0	.	C	N/S	protein_coding	YES	.	2714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTATTGTCC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16	C:0	C:0.0002	ENSP00000309907	C:0.001	22/22	.	.	.	.	.	.	.	.	rs143743039	22/22	PASS	ENST00000310701	Transcript	.	C:0.0004	ENSG00000122497	25232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	C:0	tolerated(0.37)	.	.	NBPF14	HGNC	S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN	.	UPI000059D042	SNV	NBPF14,missense_variant,p.Asn905Ser,ENST00000310701,;NBPF14,missense_variant,p.Asn899Ser,ENST00000369219,;NBPF14,downstream_gene_variant,,ENST00000392972,;NBPF14,downstream_gene_variant,,ENST00000458135,;NBPF14,downstream_gene_variant,,ENST00000444640,;NBPF14,downstream_gene_variant,,ENST00000436356,;NBPF14,downstream_gene_variant,,ENST00000431121,;NBPF14,downstream_gene_variant,,ENST00000448574,;RP3-328E19.4,downstream_gene_variant,,ENST00000416378,;	2713	314	345	SUCCESS
THBS3	7059	.	GRCh37	1	155172876	155172876	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	55	98	0	ENST00000368378.3:c.808+1G>T		p.X270_splice	ENST00000368378	NM_007112.4	270		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1099.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCGCAC	NONE	.	.	.	.	.	ENSP00000357362	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	HIGH	7/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,splice_donor_variant,,ENST00000368378,;THBS3,splice_donor_variant,,ENST00000457183,;THBS3,splice_donor_variant,,ENST00000541990,;THBS3,upstream_gene_variant,,ENST00000541576,;RP11-263K19.4,intron_variant,,ENST00000422665,;RP11-263K19.4,intron_variant,,ENST00000430312,;RP11-263K19.4,intron_variant,,ENST00000453136,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;RP11-263K19.4,downstream_gene_variant,,ENST00000454348,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;THBS3,splice_region_variant,,ENST00000460050,;THBS3,splice_region_variant,,ENST00000486260,;THBS3,upstream_gene_variant,,ENST00000465596,;THBS3,splice_region_variant,,ENST00000428962,;THBS3,upstream_gene_variant,,ENST00000496332,;	.	98	127	SUCCESS
ASH1L	55870	.	GRCh37	1	155448114	155448114	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs370694359	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	108	0	ENST00000368346.3:c.4547G>C	p.Arg1516Pro	p.R1516P	ENST00000368346		1516	cGc/cCc	0	T:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS1113.2	4547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGCGCTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	T:0.0001	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	rs370694359,COSM1183763	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.987)	.	deleterious_low_confidence(0)	0,1	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Arg1516Pro,ENST00000368346,;ASH1L,missense_variant,p.Arg1516Pro,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000548830,;	5026	108	126	SUCCESS
FMO1	2326	.	GRCh37	1	171251220	171251220	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	10	65	0	ENST00000354841.4:c.931G>T	p.Val311Phe	p.V311F	ENST00000354841	NM_001282692.1	311	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1294.1	931	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGTCATA	NONE	.	.	hmmpanther:PTHR23023:SF57,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Prints_domain:PR00370	.	.	ENSP00000346901	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000354841	Transcript	.	.	ENSG00000010932	3769	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FMO1_HUMAN	FMO1	HGNC	Q5QPT3_HUMAN	.	UPI000000DBBA	SNV	FMO1,missense_variant,p.Val311Phe,ENST00000354841,;FMO1,missense_variant,p.Val311Phe,ENST00000367750,;FMO1,missense_variant,p.Val248Phe,ENST00000402921,;FMO1,downstream_gene_variant,,ENST00000433267,;FMO1,non_coding_transcript_exon_variant,,ENST00000469112,;FMO1,intron_variant,,ENST00000472893,;FMO1,upstream_gene_variant,,ENST00000469711,;	1062	65	80	SUCCESS
CROCC	9696	.	GRCh37	1	17248518	17248518	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	38	193	0	ENST00000375541.5:c.5G>A	p.Ser2Asn	p.S2N	ENST00000375541	NM_014675.3	2	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS30616.1	5	RADIA|MUTECT|MUSE|VARSCANS	.	CATGAGCTTGG	NONE	.	.	.	.	.	ENSP00000364691	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Ser2Asn,ENST00000375541,;CROCC,upstream_gene_variant,,ENST00000445545,;CROCC,intron_variant,,ENST00000466256,;CROCC,upstream_gene_variant,,ENST00000467938,;	74	193	204	SUCCESS
TDRD5	163589	.	GRCh37	1	179604969	179604969	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	89	0	ENST00000294848.8:c.1467G>C	p.Arg489=	p.R489=	ENST00000294848	NM_173533.3	489	cgG/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS55663.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCGGATCTA	NONE	.	.	Pfam_domain:PF00567,hmmpanther:PTHR22948	.	.	ENSP00000406052	.	9/18	.	.	.	.	.	.	.	.	COSM677843	9/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;TDRD5,upstream_gene_variant,,ENST00000417329,;	1717	89	83	SUCCESS
CACNA1E	777	.	GRCh37	1	181693632	181693632	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1558308998	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	71	0	ENST00000367573.2:c.2101A>G	p.Ile701Val	p.I701V	ENST00000367573	NM_001205293.1	701	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55664.1	2101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTATCGCT	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000356545	.	17/48	.	.	.	.	.	.	.	.	.	17/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.11)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ile652Val,ENST00000358338,;CACNA1E,missense_variant,p.Ile308Val,ENST00000367567,;CACNA1E,missense_variant,p.Ile652Val,ENST00000357570,;CACNA1E,missense_variant,p.Ile701Val,ENST00000360108,;CACNA1E,missense_variant,p.Ile701Val,ENST00000526775,;CACNA1E,missense_variant,p.Ile701Val,ENST00000367573,;CACNA1E,missense_variant,p.Ile701Val,ENST00000367570,;	2101	71	105	SUCCESS
CRB1	23418	.	GRCh37	1	197407733	197407733	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1275856765	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	82	0	ENST00000367400.3:c.3806A>G	p.Tyr1269Cys	p.Y1269C	ENST00000367400	NM_201253.2	1269	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1390.1	3806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTACAATG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24049,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000356370	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious(0.03)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Tyr733Cys,ENST00000538660,;CRB1,missense_variant,p.Tyr750Cys,ENST00000544212,;CRB1,missense_variant,p.Tyr1157Cys,ENST00000367399,;CRB1,missense_variant,p.Tyr1245Cys,ENST00000535699,;CRB1,missense_variant,p.Tyr650Cys,ENST00000367397,;CRB1,missense_variant,p.Tyr1269Cys,ENST00000367400,;CRB1,upstream_gene_variant,,ENST00000448952,;RP11-75C23.1,intron_variant,,ENST00000422250,;CRB1,missense_variant,p.Tyr1269Cys,ENST00000484075,;	3941	82	107	SUCCESS
C1orf106	0	.	GRCh37	1	200870192	200870194	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	rs1227020278	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	23	0	ENST00000413687.2:c.430_432del	p.Glu144del	p.E144del	ENST00000413687	NM_001142569.2	142	cAGGag/cag	0	.	.	.	.	.	-	QE/Q	protein_coding	YES	CCDS44292.1	425-427	INDELOCATOR|VARSCANI	.	TGCTGCAGGAGGAG	NONE	.	.	hmmpanther:PTHR16093:SF4,hmmpanther:PTHR16093	.	.	ENSP00000392105	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000413687	Transcript	.	.	ENSG00000163362	25599	5	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA106_HUMAN	C1orf106	HGNC	E9PK29_HUMAN,C9JAT8_HUMAN	.	UPI0000204714	deletion	C1orf106,inframe_deletion,p.Glu229del,ENST00000367342,;C1orf106,inframe_deletion,p.Glu144del,ENST00000413687,;C1orf106,downstream_gene_variant,,ENST00000532631,;C1orf106,downstream_gene_variant,,ENST00000451872,;C1orf106,upstream_gene_variant,,ENST00000531649,;	786-788	23	18	SUCCESS
PLA2G2F	64600	.	GRCh37	1	20466020	20466020	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1233644467	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	60	0	ENST00000375102.3:c.100C>T	p.Pro34Ser	p.P34S	ENST00000375102	NM_022819.3	34	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS204.2	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCCTTCA	NONE	.	.	hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF8	.	.	ENSP00000364243	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000375102	Transcript	.	.	ENSG00000158786	30040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	tolerated(0.11)	.	PA2GF_HUMAN	PLA2G2F	HGNC	.	.	UPI0000044C9D	SNV	PLA2G2F,missense_variant,p.Pro34Ser,ENST00000375102,;PLA2G2F,non_coding_transcript_exon_variant,,ENST00000465062,;	202	60	64	SUCCESS
RPS6KC1	26750	.	GRCh37	1	213415976	213415976	+	synonymous_variant	Silent	SNP	C	C	T	rs147823242	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	59	123	0	ENST00000366960.3:c.2886C>T	p.Ala962=	p.A962=	ENST00000366960	NM_012424.3	962	gcC/gcT	0	T:0.0052	T:0.0061	.	T:0.0014	.	T	A	protein_coding	YES	CCDS1513.1	2886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCCATAGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR15508:SF2,hmmpanther:PTHR15508,PROSITE_profiles:PS50011	T:0	T:0	ENSP00000355927	T:0	12/15	.	.	.	.	.	.	.	.	rs147823242	12/15	common_in_exac	ENST00000366960	Transcript	.	T:0.0018	ENSG00000136643	10439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	KS6C1_HUMAN	RPS6KC1	HGNC	.	.	UPI0000071B8C	SNV	RPS6KC1,synonymous_variant,p.%3D,ENST00000366959,;RPS6KC1,synonymous_variant,p.%3D,ENST00000366960,;RPS6KC1,synonymous_variant,p.%3D,ENST00000543470,;RPS6KC1,3_prime_UTR_variant,,ENST00000543354,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000491616,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,;	3036	123	221	SUCCESS
IARS2	55699	.	GRCh37	1	220276901	220276901	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs746350943	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	55	0	ENST00000366922.1:c.847T>A	p.Ser283Thr	p.S283T	ENST00000366922		283	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1523.1	1063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTCAGGT	NONE	byFrequency	.	HAMAP:MF_02002,hmmpanther:PTHR11946:SF9,hmmpanther:PTHR11946,Gene3D:3.90.740.10,TIGRFAM_domain:TIGR00392,Pfam_domain:PF00133,Superfamily_domains:SSF50677	.	.	ENSP00000303279	.	8/23	.	.	.	.	.	.	.	.	rs746350943	8/23	PASS	ENST00000302637	Transcript	.	.	ENSG00000067704	29685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.58)	.	SYIM_HUMAN	IARS2	HGNC	F6SBX2_HUMAN	.	UPI000035B256	SNV	IARS2,missense_variant,p.Ser283Thr,ENST00000366922,;IARS2,missense_variant,p.Ser355Thr,ENST00000302637,;	1167	55	79	SUCCESS
OBSCN	84033	.	GRCh37	1	228461468	228461468	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	53	99	0	ENST00000422127.1:c.5138-3C>T		p.X1713_splice	ENST00000422127	NM_001098623.2	1713		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59204.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCAGAGC	NONE	.	.	.	.	.	ENSP00000455507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	21/115	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,splice_region_variant,,ENST00000366707,;OBSCN,splice_region_variant,,ENST00000366709,;OBSCN,splice_region_variant,,ENST00000284548,;OBSCN,splice_region_variant,,ENST00000359599,;OBSCN,splice_region_variant,,ENST00000570156,;OBSCN,splice_region_variant,,ENST00000422127,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.2,non_coding_transcript_exon_variant,,ENST00000602517,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602947,;	.	99	196	SUCCESS
OBSCN	84033	.	GRCh37	1	228467595	228467595	+	synonymous_variant	Silent	SNP	C	C	T	rs553927346	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	45	72	0	ENST00000422127.1:c.7470C>T	p.Cys2490=	p.C2490=	ENST00000422127	NM_001098623.2	2490	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS59204.1	8757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCGACTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	33/116	.	.	.	.	.	.	.	.	rs553927346,COSM3689401,COSM3689402,COSM3689403,COSM3689400	33/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000359599,;OBSCN,synonymous_variant,p.%3D,ENST00000366706,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	8831	72	140	SUCCESS
C1QB	713	.	GRCh37	1	22987600	22987600	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	70	115	1	ENST00000314933.6:c.483C>T	p.Thr161=	p.T161=	ENST00000314933	NM_000491.3	161	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS228.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCTGCAA	NONE	.	.	Prints_domain:PR00007,Superfamily_domains:SSF49842,SMART_domains:SM00110,Gene3D:2.60.120.40,Pfam_domain:PF00386,hmmpanther:PTHR24022:SF71,hmmpanther:PTHR24022,PROSITE_profiles:PS50871	.	.	ENSP00000313967	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000314933	Transcript	.	.	ENSG00000173369	1242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QB_HUMAN	C1QB	HGNC	Q6LDZ7_HUMAN,D6RGJ1_HUMAN,D6RA08_HUMAN,D6R934_HUMAN	.	UPI000013F024	SNV	C1QB,synonymous_variant,p.%3D,ENST00000432749,;C1QB,synonymous_variant,p.%3D,ENST00000314933,;C1QB,synonymous_variant,p.%3D,ENST00000509305,;C1QB,downstream_gene_variant,,ENST00000510260,;	615	116	151	SUCCESS
AGT	183	.	GRCh37	1	230846423	230846423	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	38	90	0	ENST00000366667.4:c.174T>C	p.Asn58=	p.N58=	ENST00000366667	NM_000029.3	58	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS1585.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCATTGGC	NONE	.	.	Superfamily_domains:SSF56574	.	.	ENSP00000355627	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000366667	Transcript	.	.	ENSG00000135744	333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGT_HUMAN	AGT	HGNC	B0ZBE2_HUMAN	.	UPI0000125B13	SNV	AGT,synonymous_variant,p.%3D,ENST00000366667,;RP11-99J16__A.2,downstream_gene_variant,,ENST00000412344,;	389	90	149	SUCCESS
AHCTF1	25909	.	GRCh37	1	247024551	247024551	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1296469036	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	277	109	226	0	ENST00000326225.3:c.3809G>T	p.Cys1270Phe	p.C1270F	ENST00000326225	NM_015446.4	1270	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS1629.2	3809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACATTTT	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.72)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Cys1261Phe,ENST00000391829,;AHCTF1,missense_variant,p.Cys1296Phe,ENST00000366508,;AHCTF1,missense_variant,p.Cys1270Phe,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;	3906	226	386	SUCCESS
OR2G2	81470	.	GRCh37	1	247752217	247752217	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	84	151	0	ENST00000320065.1:c.556G>A	p.Val186Met	p.V186M	ENST00000320065	NM_001001915.1	186	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS31092.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGTGCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000326349	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320065	Transcript	.	.	ENSG00000177489	15007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	OR2G2_HUMAN	OR2G2	HGNC	.	.	UPI0000061EB9	SNV	OR2G2,missense_variant,p.Val186Met,ENST00000320065,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	556	151	263	SUCCESS
OR2T1	26696	.	GRCh37	1	248569357	248569357	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	70	118	0	ENST00000366474.1:c.62C>A	p.Thr21Lys	p.T21K	ENST00000366474	NM_030904.1	21	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31115.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAACAATTA	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000355430	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366474	Transcript	.	.	ENSG00000175143	8277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.03)	.	OR2T1_HUMAN	OR2T1	HGNC	.	.	UPI00003B2872	SNV	OR2T1,missense_variant,p.Thr21Lys,ENST00000366474,;	62	118	206	SUCCESS
COL9A2	1298	.	GRCh37	1	40770037	40770037	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs756694568	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	57	0	ENST00000372748.3:c.1242del	p.Gly415GlufsTer116	p.G415Efs*116	ENST00000372748	NM_001852.3	414	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS450.1	1242	INDELOCATOR*|VARSCANI*|PINDEL	.	AATTCCGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000361834	.	24/32	.	.	.	.	.	.	.	.	TMP_ESP_1_40770037_40770037,rs778635966,COSM1342618	24/32	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	.	.	0,0,1	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	deletion	COL9A2,frameshift_variant,p.Pro18ArgfsTer29,ENST00000427563,;COL9A2,frameshift_variant,p.Gly415GlufsTer116,ENST00000372748,;COL9A2,non_coding_transcript_exon_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;	1339	57	90	SUCCESS
C1orf87	127795	.	GRCh37	1	60520924	60520924	+	synonymous_variant	Silent	SNP	G	G	A	rs760547532	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	98	212	0	ENST00000371201.3:c.294C>T	p.Asn98=	p.N98=	ENST00000371201	NM_152377.2	98	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS614.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGTTGTT	NONE	.	.	.	.	.	ENSP00000360244	.	3/12	.	.	.	.	.	.	.	.	rs760547532	3/12	PASS	ENST00000371201	Transcript	.	.	ENSG00000162598	28547	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA087_HUMAN	C1orf87	HGNC	.	.	UPI000006E066	SNV	C1orf87,synonymous_variant,p.%3D,ENST00000371201,;C1orf87,synonymous_variant,p.%3D,ENST00000450089,;	402	212	221	SUCCESS
WDR63	0	.	GRCh37	1	85561679	85561679	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	50	124	0	ENST00000294664.6:c.1239T>A	p.Ile413=	p.I413=	ENST00000294664	NM_145172.3	413	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS702.1	1239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATTGCTGG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	.	.	ENSP00000294664	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000294664	Transcript	.	.	ENSG00000162643	30711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR63_HUMAN	WDR63	HGNC	.	.	UPI00000744F1	SNV	WDR63,synonymous_variant,p.%3D,ENST00000326813,;WDR63,synonymous_variant,p.%3D,ENST00000370596,;WDR63,synonymous_variant,p.%3D,ENST00000294664,;WDR63,3_prime_UTR_variant,,ENST00000464801,;	1419	124	142	SUCCESS
CLCA4	22802	.	GRCh37	1	87040355	87040355	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	90	183	1	ENST00000370563.3:c.1600G>A	p.Asp534Asn	p.D534N	ENST00000370563	NM_012128.3	534	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS41355.1	1600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGATCCC	NONE	.	.	hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359594	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000370563	Transcript	.	.	ENSG00000016602	2018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious(0.04)	.	CLCA4_HUMAN	CLCA4	HGNC	Q9NXP1_HUMAN	.	UPI00000389E8	SNV	CLCA4,missense_variant,p.Asp534Asn,ENST00000370563,;CLCA4,downstream_gene_variant,,ENST00000263723,;RP4-651E10.4,intron_variant,,ENST00000456587,;CLCA4,downstream_gene_variant,,ENST00000496322,;	1642	184	226	SUCCESS
JAG1	182	.	GRCh37	20	10654131	10654131	+	synonymous_variant	Silent	SNP	G	G	T	rs901489977	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	41	0	ENST00000254958.5:c.48C>A	p.Leu16=	p.L16=	ENST00000254958	NM_000214.2	16	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13112.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGAGGCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24044:SF212,hmmpanther:PTHR24044	.	.	ENSP00000254958	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000254958	Transcript	1	.	ENSG00000101384	6188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JAG1_HUMAN	JAG1	HGNC	B7U6M8_HUMAN,B4DYR1_HUMAN	.	UPI00000498B5	SNV	JAG1,synonymous_variant,p.%3D,ENST00000254958,;RP11-103J8.1,intron_variant,,ENST00000605292,;	564	41	65	SUCCESS
OSER1	51526	.	GRCh37	20	42826241	42826248	+	frameshift_variant	Frame_Shift_Del	DEL	GCTTTTGT	GCTTTTGT	-	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	GCTTTTGT	GCTTTTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	84	0	ENST00000255174.2:c.323_330del	p.His108ProfsTer3	p.H108Pfs*3	ENST00000255174	NM_016470.7	108	cACAAAAGC/c	0	.	.	.	.	.	-	HKS/X	protein_coding	YES	CCDS13327.1	323-330	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCTGGCTTTTGTGCTTG	NONE	.	.	hmmpanther:PTHR31383,hmmpanther:PTHR31383:SF1,Pfam_domain:PF05604	.	.	ENSP00000362061	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372970	Transcript	.	.	ENSG00000132823	16105	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OSER1_HUMAN	OSER1	HGNC	.	.	UPI000004A0E4	deletion	OSER1,frameshift_variant,p.His108ProfsTer3,ENST00000372970,;OSER1,frameshift_variant,p.His108ProfsTer3,ENST00000255174,;	504-511	84	107	SUCCESS
HNF4A	3172	.	GRCh37	20	43036067	43036067	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	68	0	ENST00000316099.4:c.337C>T	p.Arg113Cys	p.R113C	ENST00000316099	NM_001258355.1	113	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13330.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCGCTAC	NONE	.	.	Prints_domain:PR00047,Superfamily_domains:SSF57716,SMART_domains:SM00399,Pfam_domain:PF00105,Gene3D:3.30.50.10,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,PROSITE_profiles:PS51030	.	.	ENSP00000312987	.	3/10	.	.	.	.	.	.	.	.	COSM443867,COSM1483661,COSM443868	3/10	PASS	ENST00000316099	Transcript	1	.	ENSG00000101076	5024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1,1	HNF4A_HUMAN	HNF4A	HGNC	F1D8T1_HUMAN	.	UPI000016A0BA	SNV	HNF4A,missense_variant,p.Arg113Cys,ENST00000443598,;HNF4A,missense_variant,p.Arg113Cys,ENST00000415691,;HNF4A,missense_variant,p.Arg113Cys,ENST00000316099,;HNF4A,missense_variant,p.Arg91Cys,ENST00000316673,;HNF4A,missense_variant,p.Arg91Cys,ENST00000457232,;HNF4A,missense_variant,p.Arg91Cys,ENST00000609795,;HNF4A,missense_variant,p.Arg88Cys,ENST00000609262,;MIR3646,upstream_gene_variant,,ENST00000578301,;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	426	68	72	SUCCESS
ZNFX1	57169	.	GRCh37	20	47865291	47865291	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs970811013	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	44	0	ENST00000371752.1:c.4270T>C	p.Tyr1424His	p.Y1424H	ENST00000371752		1424	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS13417.1	4270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATACAGGA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF341	.	.	ENSP00000379412	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000396105	Transcript	.	.	ENSG00000124201	29271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.54)	.	ZNFX1_HUMAN	ZNFX1	HGNC	Q5JXR5_HUMAN	.	UPI000012DD83	SNV	ZNFX1,missense_variant,p.Tyr1424His,ENST00000371752,;ZNFX1,missense_variant,p.Tyr1424His,ENST00000396105,;ZNFX1,intron_variant,,ENST00000371754,;DDX27,downstream_gene_variant,,ENST00000371764,;DDX27,downstream_gene_variant,,ENST00000471144,;DDX27,downstream_gene_variant,,ENST00000484427,;ZNFX1,upstream_gene_variant,,ENST00000469991,;	4517	44	50	SUCCESS
SALL4	57167	.	GRCh37	20	50407317	50407317	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	56	70	0	ENST00000217086.4:c.1705C>T	p.Leu569Phe	p.L569F	ENST00000217086	NM_020436.3	569	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS13438.1	1705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAGACATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000217086	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000217086	Transcript	1	.	ENSG00000101115	15924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.07)	.	SALL4_HUMAN	SALL4	HGNC	.	.	UPI0000135527	SNV	SALL4,missense_variant,p.Leu569Phe,ENST00000217086,;SALL4,intron_variant,,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000481363,;SALL4,downstream_gene_variant,,ENST00000483130,;	1817	70	115	SUCCESS
APCDD1L	164284	.	GRCh37	20	57089891	57089891	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	18	0	ENST00000371149.3:c.-128C>T		p.*43*	ENST00000371149	NM_153360.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13467.1	.	MUTECT|MUSE	.	GCGAGGGTCCT	NONE	.	.	.	.	.	ENSP00000360191	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000371149	Transcript	.	.	ENSG00000198768	26892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APCDL_HUMAN	APCDD1L	HGNC	.	.	UPI000006F69F	SNV	APCDD1L,5_prime_UTR_variant,,ENST00000371149,;APCDD1L,5_prime_UTR_variant,,ENST00000425773,;APCDD1L,5_prime_UTR_variant,,ENST00000439429,;APCDD1L-AS1,upstream_gene_variant,,ENST00000420279,;APCDD1L-AS1,upstream_gene_variant,,ENST00000427140,;APCDD1L-AS1,upstream_gene_variant,,ENST00000448374,;APCDD1L-AS1,upstream_gene_variant,,ENST00000439558,;APCDD1L-AS1,upstream_gene_variant,,ENST00000427794,;APCDD1L-AS1,upstream_gene_variant,,ENST00000445984,;APCDD1L-AS1,upstream_gene_variant,,ENST00000447767,;	104	18	19	SUCCESS
SLC5A1	6523	.	GRCh37	22	32487698	32487698	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	61	0	ENST00000266088.4:c.1229A>G	p.Tyr410Cys	p.Y410C	ENST00000266088	NM_000343.3	410	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13902.1	1229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTACGCCA	NONE	.	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266088	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000266088	Transcript	.	.	ENSG00000100170	11036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	SC5A1_HUMAN	SLC5A1	HGNC	A4QPH0_HUMAN	.	UPI00001359EA	SNV	SLC5A1,missense_variant,p.Tyr283Cys,ENST00000543737,;SLC5A1,missense_variant,p.Tyr410Cys,ENST00000266088,;SLC5A1,non_coding_transcript_exon_variant,,ENST00000477969,;	1479	61	83	SUCCESS
CARD10	29775	.	GRCh37	22	37906419	37906419	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	27	0	ENST00000251973.5:c.709C>A	p.Leu237Ile	p.L237I	ENST00000251973	NM_014550.3	237	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS13948.1	709	MUSE|VARSCANS	.	CTTGAGCTGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF4	.	.	ENSP00000384570	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000403299	Transcript	.	.	ENSG00000100065	16422	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.284)	.	deleterious(0)	.	CAR10_HUMAN	CARD10	HGNC	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN	.	UPI0000044645	SNV	CARD10,missense_variant,p.Leu237Ile,ENST00000251973,;CARD10,missense_variant,p.Leu237Ile,ENST00000403299,;CARD10,5_prime_UTR_variant,,ENST00000437756,;CARD10,upstream_gene_variant,,ENST00000406271,;CARD10,non_coding_transcript_exon_variant,,ENST00000494166,;CARD10,non_coding_transcript_exon_variant,,ENST00000476871,;	926	27	41	SUCCESS
CSNK1E	1454	.	GRCh37	22	38690173	38690173	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	41	0	ENST00000359867.3:c.1160A>G	p.Asn387Ser	p.N387S	ENST00000359867	NM_001894.4	387	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13970.1	1160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACGTTGGCG	NONE	.	.	hmmpanther:PTHR11909:SF74,hmmpanther:PTHR11909	.	.	ENSP00000380044	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000396832	Transcript	.	.	ENSG00000213923	2453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated_low_confidence(0.09)	.	KC1E_HUMAN	CSNK1E	HGNC	Q5U045_HUMAN,B0QY36_HUMAN	.	UPI000012DC67	SNV	CSNK1E,missense_variant,p.Asn115Ser,ENST00000431632,;CSNK1E,missense_variant,p.Asn387Ser,ENST00000403904,;CSNK1E,missense_variant,p.Asn90Ser,ENST00000366216,;CSNK1E,missense_variant,p.Asn387Ser,ENST00000359867,;CSNK1E,missense_variant,p.Asn387Ser,ENST00000400206,;CSNK1E,missense_variant,p.Asn387Ser,ENST00000396832,;CSNK1E,downstream_gene_variant,,ENST00000405675,;CSNK1E,downstream_gene_variant,,ENST00000451964,;CSNK1E,downstream_gene_variant,,ENST00000413574,;CSNK1E,downstream_gene_variant,,ENST00000498529,;CSNK1E,3_prime_UTR_variant,,ENST00000431611,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000495232,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000494610,;CSNK1E,downstream_gene_variant,,ENST00000442216,;CSNK1E,downstream_gene_variant,,ENST00000467976,;	1421	41	47	SUCCESS
ZRANB3	84083	.	GRCh37	2	135976732	135976732	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373108921	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	80	202	0	ENST00000264159.6:c.2267G>A	p.Ser756Asn	p.S756N	ENST00000264159	NM_032143.2	756	aGc/aAc	0	G:0	.	.	.	.	T	S/N	protein_coding	YES	CCDS46419.1	2267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCTCATC	NONE	byCluster	.	.	.	G:0.0001	ENSP00000264159	.	16/21	.	.	.	.	.	.	.	.	rs373108921	16/21	PASS	ENST00000264159	Transcript	.	.	ENSG00000121988	25249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZRAB3_HUMAN	ZRANB3	HGNC	.	.	UPI0000509F0C	SNV	ZRANB3,missense_variant,p.Ser754Asn,ENST00000401392,;ZRANB3,missense_variant,p.Ser754Asn,ENST00000536680,;ZRANB3,missense_variant,p.Ser756Asn,ENST00000264159,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000412849,;ZRANB3,3_prime_UTR_variant,,ENST00000403017,;	2384	202	268	SUCCESS
THSD7B	80731	.	GRCh37	2	138414638	138414638	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	46	100	0	ENST00000272643.3:c.4292G>A	p.Gly1431Asp	p.G1431D	ENST00000272643		1431	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	.	4292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGCAAAT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000272643	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Gly1428Asp,ENST00000409968,;THSD7B,missense_variant,p.Gly1400Asp,ENST00000413152,;THSD7B,missense_variant,p.Gly1431Asp,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;THSD7B,downstream_gene_variant,,ENST00000480352,;	4292	100	123	SUCCESS
LRP1B	53353	.	GRCh37	2	141707938	141707938	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756053633	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	56	105	0	ENST00000389484.3:c.3002G>T	p.Gly1001Val	p.G1001V	ENST00000389484	NM_018557.2	1001	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2182.1	3002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCCACC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	20/91	.	.	.	.	.	.	.	.	rs756053633	20/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Gly1001Val,ENST00000389484,;LRP1B,missense_variant,p.Gly146Val,ENST00000434794,;	3974	105	159	SUCCESS
TPO	7173	.	GRCh37	2	1488375	1488375	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	78	133	0	ENST00000329066.4:c.1346C>T	p.Thr449Ile	p.T449I	ENST00000329066	NM_001206744.1	449	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1643.1	1346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACCCTGA	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000318820	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.03)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Thr449Ile,ENST00000329066,;TPO,missense_variant,p.Thr449Ile,ENST00000337415,;TPO,missense_variant,p.Thr276Ile,ENST00000382198,;TPO,missense_variant,p.Thr449Ile,ENST00000382201,;TPO,missense_variant,p.Thr276Ile,ENST00000349624,;TPO,missense_variant,p.Thr449Ile,ENST00000346956,;TPO,missense_variant,p.Thr378Ile,ENST00000422464,;TPO,missense_variant,p.Thr449Ile,ENST00000345913,;TPO,upstream_gene_variant,,ENST00000446278,;TPO,upstream_gene_variant,,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,upstream_gene_variant,,ENST00000462973,;	1437	133	225	SUCCESS
CACNB4	785	.	GRCh37	2	152729009	152729009	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	67	0	ENST00000539935.1:c.522-2A>G		p.X174_splice	ENST00000539935	NM_001145798.1	174		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46426.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTAGGAT	NONE	.	.	.	.	.	ENSP00000438949	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539935	Transcript	.	.	ENSG00000182389	1404	.	.	HIGH	5/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CACB4_HUMAN	CACNB4	HGNC	Q9NZA2_HUMAN,Q580I4_HUMAN,Q53S65_HUMAN	.	UPI0000208F1E	SNV	CACNB4,splice_acceptor_variant,,ENST00000534999,;CACNB4,splice_acceptor_variant,,ENST00000427385,;CACNB4,splice_acceptor_variant,,ENST00000397327,;CACNB4,splice_acceptor_variant,,ENST00000360283,;CACNB4,splice_acceptor_variant,,ENST00000201943,;CACNB4,splice_acceptor_variant,,ENST00000539935,;CACNB4,splice_acceptor_variant,,ENST00000439467,;CACNB4,downstream_gene_variant,,ENST00000434468,;CACNB4,splice_acceptor_variant,,ENST00000470066,;	.	67	82	SUCCESS
SCN2A	6326	.	GRCh37	2	166245504	166245504	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	243	55	208	0	ENST00000283256.6:c.5188G>T	p.Asp1730Tyr	p.D1730Y	ENST00000283256	NM_021007.2	1730	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS33313.1	5188	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGACTGT	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF00520	.	.	ENSP00000349973	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.42)	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,missense_variant,p.Asp1730Tyr,ENST00000283256,;SCN2A,missense_variant,p.Asp1730Tyr,ENST00000375437,;SCN2A,missense_variant,p.Asp1730Tyr,ENST00000375427,;SCN2A,missense_variant,p.Asp1730Tyr,ENST00000357398,;	5478	208	298	SUCCESS
SCN1A	6323	.	GRCh37	2	166898866	166898866	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	101	0	ENST00000303395.4:c.2112A>G	p.Leu704=	p.L704=	ENST00000303395		704	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS54413.1	2112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTAGAAA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Pfam_domain:PF11933	.	.	ENSP00000303540	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,synonymous_variant,p.%3D,ENST00000409050,;SCN1A,synonymous_variant,p.%3D,ENST00000423058,;SCN1A,synonymous_variant,p.%3D,ENST00000303395,;SCN1A,synonymous_variant,p.%3D,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;	2112	101	141	SUCCESS
TTC30B	150737	.	GRCh37	2	178416097	178416097	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	382	316	531	2	ENST00000408939.3:c.1395T>A	p.Ala465=	p.A465=	ENST00000408939	NM_152517.2	465	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42784.1	1395	RADIA|SOMATICSNIPER|VARSCANS	.	ACATGAGCCAC	NONE	.	.	hmmpanther:PTHR20931,hmmpanther:PTHR20931:SF2,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000386181	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408939	Transcript	.	.	ENSG00000196659	26425	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TT30B_HUMAN	TTC30B	HGNC	.	.	UPI000013DE25	SNV	TTC30B,synonymous_variant,p.%3D,ENST00000408939,;	1646	533	699	SUCCESS
TTN	7273	.	GRCh37	2	179590676	179590676	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	118	159	0	ENST00000591111.1:c.19422G>C	p.Glu6474Asp	p.E6474D	ENST00000591111		6474	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS59435.1	20373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCTCAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	70/363	.	.	.	.	.	.	.	.	.	70/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu5547Asp,ENST00000342992,;TTN,missense_variant,p.Glu6474Asp,ENST00000591111,;TTN,missense_variant,p.Glu6791Asp,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;	20598	159	217	SUCCESS
MYT1L	23040	.	GRCh37	2	1915791	1915791	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	35	0	ENST00000399161.2:c.1709+1G>T		p.X570_splice	ENST00000399161	NM_015025.2	570		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46222.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTACCTTCG	NONE	.	.	.	.	.	ENSP00000396103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	HIGH	12/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,splice_donor_variant,,ENST00000399161,;MYT1L,splice_donor_variant,,ENST00000428368,;MYT1L,splice_donor_variant,,ENST00000602387,;MYT1L,splice_donor_variant,,ENST00000485547,;	.	35	84	SUCCESS
PLEKHM3	389072	.	GRCh37	2	208866092	208866092	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	56	0	ENST00000427836.2:c.272C>A	p.Ala91Asp	p.A91D	ENST00000427836	NM_001080475.2	91	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS42808.1	272	MUTECT|MUSE	.	CTTTGGCAGGG	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF10	.	.	ENSP00000417003	.	2/8	.	.	.	.	.	.	.	.	COSM1404887,COSM1404888	2/8	PASS	ENST00000427836	Transcript	.	.	ENSG00000178385	34006	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.424)	.	deleterious(0.01)	1,1	PKHM3_HUMAN	PLEKHM3	HGNC	.	.	UPI0000DBEE58	SNV	PLEKHM3,missense_variant,p.Ala91Asp,ENST00000457206,;PLEKHM3,missense_variant,p.Ala91Asp,ENST00000427836,;PLEKHM3,missense_variant,p.Ala91Asp,ENST00000389247,;	762	56	62	SUCCESS
TNS1	7145	.	GRCh37	2	218700829	218700829	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141836163	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	69	82	0	ENST00000171887.4:c.2738C>A	p.Pro913His	p.P913H	ENST00000171887	NM_022648.4	913	cCt/cAt	0	A:0	A:0	.	A:0	.	T	P/H	protein_coding	YES	CCDS2407.1	2738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGAGGGGAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	A:0	A:0.0005	ENSP00000171887	A:0	18/33	.	.	.	.	.	.	.	.	rs141836163	18/33	PASS	ENST00000171887	Transcript	.	A:0.0014	ENSG00000079308	11973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	A:0.0072	tolerated(0.05)	.	TENS1_HUMAN	TNS1	HGNC	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN	.	UPI0000456EEB	SNV	TNS1,missense_variant,p.Pro913His,ENST00000171887,;TNS1,missense_variant,p.Pro913His,ENST00000430930,;TNS1,missense_variant,p.Pro913His,ENST00000419504,;TNS1,missense_variant,p.Pro72His,ENST00000446688,;	3191	82	122	SUCCESS
ATG16L1	55054	.	GRCh37	2	234160386	234160386	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	13	0	ENST00000392017.4:c.-88C>T		p.*30*	ENST00000392017	NM_001190266.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2503.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCCGCTTC	NONE	.	.	.	.	.	ENSP00000375872	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000392017	Transcript	.	.	ENSG00000085978	21498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A16L1_HUMAN	ATG16L1	HGNC	Q53SV2_HUMAN,Q17RG0_HUMAN,F8WAF9_HUMAN,D9N2U2_HUMAN,C9J8C6_HUMAN	.	UPI0000208D0D	SNV	ATG16L1,5_prime_UTR_variant,,ENST00000373525,;ATG16L1,5_prime_UTR_variant,,ENST00000392017,;ATG16L1,5_prime_UTR_variant,,ENST00000444735,;ATG16L1,5_prime_UTR_variant,,ENST00000392020,;ATG16L1,5_prime_UTR_variant,,ENST00000347464,;ATG16L1,5_prime_UTR_variant,,ENST00000419681,;ATG16L1,5_prime_UTR_variant,,ENST00000417017,;ATG16L1,5_prime_UTR_variant,,ENST00000392018,;ATG16L1,intron_variant,,ENST00000431917,;ATG16L1,5_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000485623,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;	170	13	23	SUCCESS
SCLY	51540	.	GRCh37	2	238991957	238991957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	7	118	0	ENST00000254663.6:c.870G>T	p.Met290Ile	p.M290I	ENST00000254663	NM_016510.5	290	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS2524.2	870	MUTECT|MUSE	.	CCTATGCTATT	NONE	.	.	hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383	.	.	ENSP00000254663	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000254663	Transcript	.	.	ENSG00000132330	18161	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.473)	.	deleterious(0.03)	.	SCLY_HUMAN	SCLY	HGNC	B4DDP9_HUMAN	.	UPI0000EE3842	SNV	SCLY,missense_variant,p.Met112Ile,ENST00000450965,;SCLY,missense_variant,p.Met282Ile,ENST00000555827,;SCLY,missense_variant,p.Met126Ile,ENST00000437134,;SCLY,missense_variant,p.Met290Ile,ENST00000254663,;SCLY,missense_variant,p.Met200Ile,ENST00000373332,;SCLY,missense_variant,p.Met24Ile,ENST00000433750,;SCLY,missense_variant,p.Met188Ile,ENST00000422984,;SCLY,missense_variant,p.Met282Ile,ENST00000409736,;SCLY,intron_variant,,ENST00000429612,;SCLY,intron_variant,,ENST00000440143,;SCLY,intron_variant,,ENST00000412508,;SCLY,downstream_gene_variant,,ENST00000431487,;SCLY,downstream_gene_variant,,ENST00000413463,;SCLY,downstream_gene_variant,,ENST00000480859,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,non_coding_transcript_exon_variant,,ENST00000497951,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,downstream_gene_variant,,ENST00000443532,;SCLY,downstream_gene_variant,,ENST00000446202,;SCLY,downstream_gene_variant,,ENST00000482031,;SCLY,downstream_gene_variant,,ENST00000423324,;	1012	118	191	SUCCESS
DOK1	1796	.	GRCh37	2	74783058	74783058	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	56	0	ENST00000233668.5:c.492C>T	p.Ala164=	p.A164=	ENST00000233668	NM_001381.3	164	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1954.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCGCCGA	NONE	.	.	PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF46,Gene3D:2.30.29.30,Pfam_domain:PF02174,SMART_domains:SM00310,Superfamily_domains:SSF50729	.	.	ENSP00000233668	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000233668	Transcript	.	.	ENSG00000115325	2990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOK1_HUMAN	DOK1	HGNC	Q2TA81_HUMAN	.	UPI00001296A9	SNV	DOK1,synonymous_variant,p.%3D,ENST00000409429,;DOK1,synonymous_variant,p.%3D,ENST00000233668,;DOK1,intron_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000413469,;M1AP,downstream_gene_variant,,ENST00000290536,;M1AP,downstream_gene_variant,,ENST00000536235,;LOXL3,upstream_gene_variant,,ENST00000264094,;LOXL3,upstream_gene_variant,,ENST00000409986,;M1AP,downstream_gene_variant,,ENST00000409585,;LOXL3,upstream_gene_variant,,ENST00000409249,;M1AP,downstream_gene_variant,,ENST00000358434,;LOXL3,upstream_gene_variant,,ENST00000409549,;LOXL3,upstream_gene_variant,,ENST00000393937,;DOK1,non_coding_transcript_exon_variant,,ENST00000480318,;DOK1,non_coding_transcript_exon_variant,,ENST00000496966,;DOK1,intron_variant,,ENST00000489958,;DOK1,downstream_gene_variant,,ENST00000488613,;M1AP,downstream_gene_variant,,ENST00000485997,;LOXL3,upstream_gene_variant,,ENST00000484369,;M1AP,downstream_gene_variant,,ENST00000464686,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,3_prime_UTR_variant,,ENST00000429631,;DOK1,non_coding_transcript_exon_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000475191,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000482206,;	1161	56	103	SUCCESS
LYG2	254773	.	GRCh37	2	99861785	99861785	+	synonymous_variant	Silent	SNP	A	A	G	rs773368455	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	37	48	0	ENST00000333017.2:c.321T>C	p.His107=	p.H107=	ENST00000333017	NM_175735.3	107	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS2042.1	321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCATGGCT	NONE	.	.	hmmpanther:PTHR31698:SF4,hmmpanther:PTHR31698,Pfam_domain:PF01464,Gene3D:1.10.530.10,PIRSF_domain:PIRSF001065,Superfamily_domains:SSF53955,Prints_domain:PR00749	.	.	ENSP00000327533	.	4/6	.	.	.	.	.	.	.	.	rs773368455	4/6	PASS	ENST00000333017	Transcript	.	.	ENSG00000185674	29615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYG2_HUMAN	LYG2	HGNC	C9JBA4_HUMAN	.	UPI0000049D92	SNV	LYG2,synonymous_variant,p.%3D,ENST00000409679,;LYG2,synonymous_variant,p.%3D,ENST00000423306,;LYG2,synonymous_variant,p.%3D,ENST00000423800,;LYG2,synonymous_variant,p.%3D,ENST00000409238,;LYG2,synonymous_variant,p.%3D,ENST00000333017,;C2orf15,intron_variant,,ENST00000424491,;	434	48	67	SUCCESS
ADPRH	141	.	GRCh37	3	119306620	119306620	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	54	75	1	ENST00000357003.3:c.969G>A	p.Val323=	p.V323=	ENST00000357003	NM_001125.2	323	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2990.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGAGTCC	NONE	.	.	hmmpanther:PTHR22957:SF223,hmmpanther:PTHR22957,Pfam_domain:PF03747,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888	.	.	ENSP00000420200	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000478399	Transcript	.	.	ENSG00000144843	269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADPRH_HUMAN	ADPRH	HGNC	C9JZW7_HUMAN	.	UPI0000125ED7	SNV	ADPRH,synonymous_variant,p.%3D,ENST00000478399,;ADPRH,synonymous_variant,p.%3D,ENST00000465513,;ADPRH,synonymous_variant,p.%3D,ENST00000357003,;ADPRH,synonymous_variant,p.%3D,ENST00000478927,;ADPRH,downstream_gene_variant,,ENST00000481816,;ADPRH,non_coding_transcript_exon_variant,,ENST00000471850,;ADPRH,downstream_gene_variant,,ENST00000485496,;	2374	76	105	SUCCESS
DHX36	170506	.	GRCh37	3	154021173	154021173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	475	242	492	2	ENST00000496811.1:c.1162G>A	p.Gly388Ser	p.G388S	ENST00000496811	NM_020865.2	388	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3171.1	1162	RADIA|VARSCANS	.	AAAACCAGGTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF100	.	.	ENSP00000417078	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000496811	Transcript	.	.	ENSG00000174953	14410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	DHX36_HUMAN	DHX36	HGNC	E7EWK3_HUMAN	.	UPI000013ED25	SNV	DHX36,missense_variant,p.Gly302Ser,ENST00000481941,;DHX36,missense_variant,p.Gly388Ser,ENST00000496811,;DHX36,missense_variant,p.Gly388Ser,ENST00000544526,;DHX36,missense_variant,p.Gly388Ser,ENST00000308361,;DHX36,missense_variant,p.Gly388Ser,ENST00000329463,;DHX36,non_coding_transcript_exon_variant,,ENST00000460875,;	1243	494	717	SUCCESS
TRIM59	286827	.	GRCh37	3	160156300	160156300	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	62	110	0	ENST00000309784.4:c.672A>T	p.Arg224Ser	p.R224S	ENST00000309784	NM_173084.2	224	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3190.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTCTTTC	NONE	.	.	hmmpanther:PTHR24098,hmmpanther:PTHR24098:SF6	.	.	ENSP00000311219	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309784	Transcript	.	.	ENSG00000213186	30834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.08)	.	TRI59_HUMAN	TRIM59	HGNC	C9JE08_HUMAN,C9J9F0_HUMAN,C9J614_HUMAN,C9IZE0_HUMAN	.	UPI0000074490	SNV	TRIM59,missense_variant,p.Arg224Ser,ENST00000309784,;TRIM59,missense_variant,p.Arg224Ser,ENST00000543469,;SMC4,downstream_gene_variant,,ENST00000344722,;TRIM59,downstream_gene_variant,,ENST00000479460,;TRIM59,downstream_gene_variant,,ENST00000471155,;TRIM59,downstream_gene_variant,,ENST00000496222,;SMC4,downstream_gene_variant,,ENST00000469762,;SMC4,downstream_gene_variant,,ENST00000462787,;TRIM59,downstream_gene_variant,,ENST00000468542,;TRIM59,downstream_gene_variant,,ENST00000471396,;SMC4,downstream_gene_variant,,ENST00000357388,;TRIM59,downstream_gene_variant,,ENST00000494486,;SMC4,downstream_gene_variant,,ENST00000360111,;RP11-432B6.3,missense_variant,p.Arg224Ser,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,;	858	110	197	SUCCESS
VWA5B2	90113	.	GRCh37	3	183956399	183956399	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	26	90	0	ENST00000426955.2:c.1940C>G	p.Ser647Cys	p.S647C	ENST00000426955	NM_138345.1	647	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS54686.1	1940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCTGACA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	deleterious(0)	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Ser429Cys,ENST00000273794,;VWA5B2,missense_variant,p.Ser647Cys,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,upstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000411922,;VWA5B2,downstream_gene_variant,,ENST00000474580,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000462735,;VWA5B2,downstream_gene_variant,,ENST00000497229,;ALG3,downstream_gene_variant,,ENST00000414845,;	2040	90	120	SUCCESS
FETUB	26998	.	GRCh37	3	186362632	186362632	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs199634697	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	48	0	ENST00000265029.3:c.517G>T	p.Glu173Ter	p.E173*	ENST00000265029	NM_014375.2	173	Gag/Tag	0	.	A:0	.	A:0	.	T	E/*	protein_coding	YES	CCDS3279.1	517	MUTECT|MUSE	.	CCACCGAGTCT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF54403,SMART_domains:SM00043,Gene3D:3.10.450.10,Pfam_domain:PF00031,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF10,PROSITE_profiles:PS51530	A:0.001	.	ENSP00000265029	A:0	4/7	.	.	.	.	.	.	.	.	rs199634697	4/7	PASS	ENST00000265029	Transcript	.	A:0.0002	ENSG00000090512	3658	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	FETUB_HUMAN	FETUB	HGNC	C9JC68_HUMAN,B7Z8T3_HUMAN	.	UPI00000361F3	SNV	FETUB,stop_gained,p.Glu25Ter,ENST00000431018,;FETUB,stop_gained,p.Glu25Ter,ENST00000539949,;FETUB,stop_gained,p.Glu173Ter,ENST00000450521,;FETUB,stop_gained,p.Glu108Ter,ENST00000382134,;FETUB,stop_gained,p.Glu173Ter,ENST00000265029,;FETUB,stop_gained,p.Glu136Ter,ENST00000382136,;RP11-134F2.2,intron_variant,,ENST00000428501,;RP11-134F2.2,intron_variant,,ENST00000455926,;FETUB,non_coding_transcript_exon_variant,,ENST00000488561,;FETUB,3_prime_UTR_variant,,ENST00000435961,;FETUB,3_prime_UTR_variant,,ENST00000420570,;	618	48	70	SUCCESS
RBMS3	27303	.	GRCh37	3	29977613	29977613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	147	181	0	ENST00000383767.2:c.976T>C	p.Ser326Pro	p.S326P	ENST00000383767		326	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS33724.1	976	RADIA|MUTECT|MUSE	.	CCATGTCAATG	NONE	.	.	hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219	.	.	ENSP00000373277	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	deleterious(0.04)	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,missense_variant,p.Ser326Pro,ENST00000383767,;RBMS3,missense_variant,p.Ser325Pro,ENST00000434693,;RBMS3,missense_variant,p.Ser326Pro,ENST00000273139,;RBMS3,missense_variant,p.Ser326Pro,ENST00000452462,;RBMS3,missense_variant,p.Ser339Pro,ENST00000456853,;RBMS3,missense_variant,p.Ser308Pro,ENST00000383766,;RBMS3,missense_variant,p.Ser339Pro,ENST00000396583,;RBMS3-AS1,upstream_gene_variant,,ENST00000414547,;RBMS3,non_coding_transcript_exon_variant,,ENST00000473799,;	1312	181	274	SUCCESS
RBMS3	27303	.	GRCh37	3	29977619	29977619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	149	185	0	ENST00000383767.2:c.982C>A	p.Gln328Lys	p.Q328K	ENST00000383767		328	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS33724.1	982	RADIA|MUTECT|MUSE	.	CAATGCAGCCA	NONE	.	.	hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219	.	.	ENSP00000373277	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.056)	.	deleterious(0)	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,missense_variant,p.Gln328Lys,ENST00000383767,;RBMS3,missense_variant,p.Gln327Lys,ENST00000434693,;RBMS3,missense_variant,p.Gln328Lys,ENST00000273139,;RBMS3,missense_variant,p.Gln328Lys,ENST00000452462,;RBMS3,missense_variant,p.Gln341Lys,ENST00000456853,;RBMS3,missense_variant,p.Gln310Lys,ENST00000383766,;RBMS3,missense_variant,p.Gln341Lys,ENST00000396583,;RBMS3-AS1,upstream_gene_variant,,ENST00000414547,;RBMS3,non_coding_transcript_exon_variant,,ENST00000473799,;	1318	185	274	SUCCESS
OXSR1	9943	.	GRCh37	3	38292941	38292941	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145431865	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	79	124	0	ENST00000311806.3:c.1423G>T	p.Asp475Tyr	p.D475Y	ENST00000311806	NM_005109.2	475	Gac/Tac	0	A:0	A:0	.	A:0	.	T	D/Y	protein_coding	YES	CCDS2675.1	1423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGACGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF202,Gene3D:3.10.20.90	A:0	A:0.0015	ENSP00000311713	A:0.002	16/18	.	.	.	.	.	.	.	.	rs145431865	16/18	PASS	ENST00000311806	Transcript	.	A:0.0004	ENSG00000172939	8508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	A:0	deleterious(0)	.	OXSR1_HUMAN	OXSR1	HGNC	.	.	UPI000006E0D0	SNV	OXSR1,missense_variant,p.Asp475Tyr,ENST00000311806,;OXSR1,downstream_gene_variant,,ENST00000446845,;OXSR1,downstream_gene_variant,,ENST00000467900,;	1795	124	150	SUCCESS
SCN11A	11280	.	GRCh37	3	38921513	38921513	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	88	0	ENST00000302328.3:c.3321A>G	p.Leu1107=	p.L1107=	ENST00000302328	NM_014139.2	1107	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33737.1	3321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTAGTAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000307599	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,synonymous_variant,p.%3D,ENST00000450244,;SCN11A,synonymous_variant,p.%3D,ENST00000302328,;SCN11A,synonymous_variant,p.%3D,ENST00000444237,;SCN11A,synonymous_variant,p.%3D,ENST00000456224,;	3520	88	100	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913396	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	75	159	0	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2694.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32V|c.95A>T|41,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.988)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	160	206	SUCCESS
ELP6	54859	.	GRCh37	3	47552690	47552690	+	synonymous_variant	Silent	SNP	G	G	T	rs775994937	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	5	48	0	ENST00000296149.4:c.81C>A	p.Ala27=	p.A27=	ENST00000296149	NM_001031703.2	27	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43082.1	81	MUTECT|MUSE	.	GTCTTGGCATC	NONE	.	.	hmmpanther:PTHR16184,hmmpanther:PTHR16184:SF6,Pfam_domain:PF09807	.	.	ENSP00000296149	.	2/7	.	.	.	.	.	.	.	.	rs775994937	2/7	PASS	ENST00000296149	Transcript	.	.	ENSG00000163832	25976	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELP6_HUMAN	ELP6	HGNC	C9JLH5_HUMAN,C9JA82_HUMAN,C9J9N8_HUMAN,C9IYN7_HUMAN	.	UPI000020A684	SNV	ELP6,synonymous_variant,p.%3D,ENST00000296149,;ELP6,5_prime_UTR_variant,,ENST00000446787,;ELP6,5_prime_UTR_variant,,ENST00000414236,;ELP6,5_prime_UTR_variant,,ENST00000449409,;ELP6,5_prime_UTR_variant,,ENST00000439305,;ELP6,5_prime_UTR_variant,,ENST00000444760,;ELP6,5_prime_UTR_variant,,ENST00000425291,;ELP6,5_prime_UTR_variant,,ENST00000412761,;ELP6,downstream_gene_variant,,ENST00000460502,;ELP6,synonymous_variant,p.%3D,ENST00000442215,;ELP6,5_prime_UTR_variant,,ENST00000445044,;ELP6,non_coding_transcript_exon_variant,,ENST00000485029,;ELP6,non_coding_transcript_exon_variant,,ENST00000483205,;ELP6,non_coding_transcript_exon_variant,,ENST00000461208,;ELP6,intron_variant,,ENST00000494161,;	252	48	84	SUCCESS
USP19	10869	.	GRCh37	3	49152692	49152692	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	50	1	ENST00000398888.2:c.1682C>T	p.Thr561Ile	p.T561I	ENST00000398888	NM_006677.2	561	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS56254.1	1985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGTGCCC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000401197	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Thr664Ile,ENST00000417901,;USP19,missense_variant,p.Thr601Ile,ENST00000398892,;USP19,missense_variant,p.Thr601Ile,ENST00000398898,;USP19,missense_variant,p.Thr652Ile,ENST00000453664,;USP19,missense_variant,p.Thr662Ile,ENST00000434032,;USP19,missense_variant,p.Thr369Ile,ENST00000398896,;USP19,missense_variant,p.Thr561Ile,ENST00000398888,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000491859,;	2197	51	60	SUCCESS
ITIH4	3700	.	GRCh37	3	52860642	52860642	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	30	45	0	ENST00000266041.4:c.545A>G	p.Gln182Arg	p.Q182R	ENST00000266041	NM_002218.4	182	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS2865.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGGGGC	NONE	.	.	hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338	.	.	ENSP00000266041	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,missense_variant,p.Gln182Arg,ENST00000346281,;ITIH4,missense_variant,p.Gln182Arg,ENST00000266041,;ITIH4,missense_variant,p.Gln52Arg,ENST00000441637,;ITIH4,missense_variant,p.Gln94Arg,ENST00000434759,;ITIH4,missense_variant,p.Gln182Arg,ENST00000485816,;ITIH4,missense_variant,p.Gln182Arg,ENST00000406595,;ITIH4-AS1,downstream_gene_variant,,ENST00000478366,;ITIH4,upstream_gene_variant,,ENST00000484632,;RP5-966M1.6,downstream_gene_variant,,ENST00000513520,;ITIH4,upstream_gene_variant,,ENST00000467462,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,upstream_gene_variant,,ENST00000485894,;ITIH4,downstream_gene_variant,,ENST00000473904,;ITIH4,upstream_gene_variant,,ENST00000483372,;	642	45	50	SUCCESS
USP53	54532	.	GRCh37	4	120182988	120182988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	50	85	0	ENST00000274030.6:c.941G>T	p.Trp314Leu	p.W314L	ENST00000274030	NM_019050.2	314	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS43265.1	941	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGGGTAT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF6,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000409906	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000450251	Transcript	.	.	ENSG00000145390	29255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	UBP53_HUMAN	USP53	HGNC	.	.	UPI0000251D9D	SNV	USP53,missense_variant,p.Trp314Leu,ENST00000450251,;USP53,missense_variant,p.Trp314Leu,ENST00000274030,;USP53,missense_variant,p.Trp14Leu,ENST00000507906,;USP53,missense_variant,p.Trp314Leu,ENST00000509769,;	1485	85	105	SUCCESS
C4orf51	646603	.	GRCh37	4	146648100	146648100	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	343	127	239	0	ENST00000438731.1:c.345A>G	p.Ser115=	p.S115=	ENST00000438731	NM_001080531.1	115	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47140.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATTTGA	NONE	.	.	.	.	.	ENSP00000391404	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000438731	Transcript	.	.	ENSG00000237136	37264	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD051_HUMAN	C4orf51	HGNC	.	.	UPI0000DD7C19	SNV	C4orf51,synonymous_variant,p.%3D,ENST00000438731,;C4orf51,synonymous_variant,p.%3D,ENST00000511965,;	345	239	471	SUCCESS
GLRB	2743	.	GRCh37	4	158043481	158043481	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	425	134	334	1	ENST00000264428.4:c.230-1G>C		p.X77_splice	ENST00000264428	NM_000824.4	77		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3796.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAGGCATT	NONE	.	.	.	.	.	ENSP00000264428	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264428	Transcript	1	.	ENSG00000109738	4329	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLRB_HUMAN	GLRB	HGNC	.	.	UPI000000161E	SNV	GLRB,splice_acceptor_variant,,ENST00000264428,;GLRB,splice_acceptor_variant,,ENST00000509282,;GLRB,splice_acceptor_variant,,ENST00000541722,;GLRB,intron_variant,,ENST00000512619,;GLRB,splice_acceptor_variant,,ENST00000506411,;GLRB,splice_acceptor_variant,,ENST00000515642,;	.	335	559	SUCCESS
FSTL5	56884	.	GRCh37	4	162307497	162307497	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	38	93	1	ENST00000306100.5:c.1946C>T	p.Pro649Leu	p.P649L	ENST00000306100	NM_001128427.2	649	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3802.1	1946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAGGAACG	NONE	.	.	Superfamily_domains:0047643,Gene3D:2.130.10.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	16/16	.	.	.	.	.	.	.	.	COSM1052811	16/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.991)	.	deleterious(0)	1	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Pro648Leu,ENST00000379164,;FSTL5,missense_variant,p.Pro648Leu,ENST00000536695,;FSTL5,missense_variant,p.Pro639Leu,ENST00000427802,;FSTL5,missense_variant,p.Pro649Leu,ENST00000306100,;RP11-234O6.2,non_coding_transcript_exon_variant,,ENST00000508189,;	2383	94	173	SUCCESS
CCKAR	886	.	GRCh37	4	26491839	26491839	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	98	0	ENST00000295589.3:c.51C>T	p.Pro17=	p.P17=	ENST00000295589	NM_000730.2	17	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3438.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGGGAGG	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF60,Gene3D:1d6gA00,Pfam_domain:PF09193,Superfamily_domains:SSF81321	.	.	ENSP00000295589	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000295589	Transcript	.	.	ENSG00000163394	1570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCKAR_HUMAN	CCKAR	HGNC	.	.	UPI00000503F3	SNV	CCKAR,synonymous_variant,p.%3D,ENST00000295589,;	246	98	93	SUCCESS
GABRB1	2560	.	GRCh37	4	47427952	47427952	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	163	0	ENST00000295454.3:c.1342T>C	p.Ser448Pro	p.S448P	ENST00000295454	NM_000812.3	448	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3474.1	1342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATTCCATA	NONE	.	.	hmmpanther:PTHR18945:SF198,hmmpanther:PTHR18945,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01160	.	.	ENSP00000295454	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000295454	Transcript	.	.	ENSG00000163288	4081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated(0.17)	.	GBRB1_HUMAN	GABRB1	HGNC	D6REM0_HUMAN	.	UPI000012AFAC	SNV	GABRB1,missense_variant,p.Ser378Pro,ENST00000538619,;GABRB1,missense_variant,p.Ser448Pro,ENST00000295454,;	1634	163	130	SUCCESS
FBN2	2201	.	GRCh37	5	127626533	127626533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	55	136	0	ENST00000262464.4:c.6336G>T	p.Lys2112Asn	p.K2112N	ENST00000262464	NM_001999.3	2112	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34222.1	6336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACACTTTCC	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	56/71	.	.	.	.	.	.	.	.	.	56/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.03)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Lys2112Asn,ENST00000262464,;FBN2,missense_variant,p.Lys2112Asn,ENST00000508053,;	7311	136	143	SUCCESS
PCDHA6	56142	.	GRCh37	5	140208380	140208380	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	79	146	0	ENST00000529310.1:c.704T>C	p.Val235Ala	p.V235A	ENST00000529310	NM_018909.2	235	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS47281.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGTGAATG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated_low_confidence(0.6)	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,missense_variant,p.Val235Ala,ENST00000527624,;PCDHA6,missense_variant,p.Val235Ala,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA5,downstream_gene_variant,,ENST00000378126,;	818	146	158	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140347864	140347864	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	62	120	0	ENST00000289269.5:c.1513A>G	p.Thr505Ala	p.T505A	ENST00000289269	NM_018899.5	505	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS4242.1	1513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGACCTAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,PROSITE_profiles:PS50268	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0)	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,missense_variant,p.Thr505Ala,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2045	120	147	SUCCESS
PCDHB17	0	.	GRCh37	5	140537320	140537320	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	22	1	ENST00000539533.1:c.1744C>A	p.Pro582Thr	p.P582T	ENST00000539533		582	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	1744	SOMATICSNIPER|VARSCANS	.	GGCGGCCGAGC	NONE	.	.	.	.	.	ENSP00000438685	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000539533	Transcript	.	.	ENSG00000255622	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.14)	.	.	PCDHB17	Uniprot_gn	Q96T98_HUMAN	.	UPI000006CE19	SNV	PCDHB17,missense_variant,p.Pro582Thr,ENST00000539533,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB6,downstream_gene_variant,,ENST00000231136,;	1744	23	23	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140773532	140773532	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	54	115	0	ENST00000398604.2:c.1152T>C	p.Cys384=	p.C384=	ENST00000398604	NM_032088.1	384	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS47291.1	1152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGTTACAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,synonymous_variant,p.%3D,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	1152	115	121	SUCCESS
HDAC3	8841	.	GRCh37	5	141008783	141008783	+	synonymous_variant	Silent	SNP	C	C	T	rs770968916	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	48	102	0	ENST00000305264.3:c.567G>A	p.Thr189=	p.T189=	ENST00000305264	NM_003883.3	189	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4264.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCGTCAT	NONE	byFrequency	.	hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768	.	.	ENSP00000302967	.	7/15	.	.	.	.	.	.	.	.	rs770968916,COSM1310786	7/15	PASS	ENST00000305264	Transcript	.	.	ENSG00000171720	4854	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HDAC3_HUMAN	HDAC3	HGNC	Q9H368_HUMAN,B5MGH4_HUMAN	.	UPI000003552A	SNV	HDAC3,synonymous_variant,p.%3D,ENST00000523088,;HDAC3,synonymous_variant,p.%3D,ENST00000305264,;AC008781.7,downstream_gene_variant,,ENST00000422040,;HDAC3,upstream_gene_variant,,ENST00000459727,;HDAC3,upstream_gene_variant,,ENST00000469207,;HDAC3,3_prime_UTR_variant,,ENST00000519474,;HDAC3,non_coding_transcript_exon_variant,,ENST00000495485,;HDAC3,non_coding_transcript_exon_variant,,ENST00000469550,;HDAC3,non_coding_transcript_exon_variant,,ENST00000492407,;HDAC3,non_coding_transcript_exon_variant,,ENST00000476739,;HDAC3,non_coding_transcript_exon_variant,,ENST00000490808,;HDAC3,intron_variant,,ENST00000467533,;HDAC3,upstream_gene_variant,,ENST00000491581,;HDAC3,upstream_gene_variant,,ENST00000475549,;HDAC3,downstream_gene_variant,,ENST00000471968,;HDAC3,upstream_gene_variant,,ENST00000486618,;	647	102	107	SUCCESS
NR3C1	2908	.	GRCh37	5	142680054	142680054	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	63	91	0	ENST00000343796.2:c.1743A>T	p.Ile581=	p.I581=	ENST00000343796	NM_001018075.1	581	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34258.1	1746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTATTGC	NONE	.	.	Prints_domain:PR00398,Superfamily_domains:SSF48508,SMART_domains:SM00430,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24084:SF4,hmmpanther:PTHR24084	.	.	ENSP00000231509	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000231509	Transcript	1	.	ENSG00000113580	7978	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCR_HUMAN	NR3C1	HGNC	E5KQF6_HUMAN,Q3MSN4_HUMAN,D6RDA9_HUMAN	.	UPI000016A246	SNV	NR3C1,synonymous_variant,p.%3D,ENST00000394464,;NR3C1,synonymous_variant,p.%3D,ENST00000231509,;NR3C1,synonymous_variant,p.%3D,ENST00000503201,;NR3C1,synonymous_variant,p.%3D,ENST00000504572,;NR3C1,synonymous_variant,p.%3D,ENST00000424646,;NR3C1,synonymous_variant,p.%3D,ENST00000343796,;NR3C1,synonymous_variant,p.%3D,ENST00000416954,;NR3C1,synonymous_variant,p.%3D,ENST00000415690,;NR3C1,synonymous_variant,p.%3D,ENST00000394466,;NR3C1,downstream_gene_variant,,ENST00000504336,;	2238	91	122	SUCCESS
FAT2	2196	.	GRCh37	5	150946610	150946610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	74	0	ENST00000261800.5:c.1883T>C	p.Leu628Pro	p.L628P	ENST00000261800	NM_001447.2	628	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4317.1	1883	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAAGATTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.588)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Leu628Pro,ENST00000261800,;	1896	75	100	SUCCESS
RANBP17	64901	.	GRCh37	5	170598268	170598268	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs764217144	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	65	142	0	ENST00000523189.1:c.1843T>G	p.Phe615Val	p.F615V	ENST00000523189	NM_022897.3	615	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS34287.1	1843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGTTCCTA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	.	ENSP00000427975	.	16/28	.	.	.	.	.	.	.	.	rs764217144	16/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,missense_variant,p.Phe615Val,ENST00000523189,;RANBP17,non_coding_transcript_exon_variant,,ENST00000524364,;RANBP17,intron_variant,,ENST00000520586,;RANBP17,intron_variant,,ENST00000521759,;RANBP17,intron_variant,,ENST00000523665,;RANBP17,3_prime_UTR_variant,,ENST00000519949,;RANBP17,3_prime_UTR_variant,,ENST00000389118,;RANBP17,3_prime_UTR_variant,,ENST00000519256,;RANBP17,3_prime_UTR_variant,,ENST00000522533,;RANBP17,3_prime_UTR_variant,,ENST00000522066,;RANBP17,3_prime_UTR_variant,,ENST00000520864,;	2007	142	152	SUCCESS
CPEB4	80315	.	GRCh37	5	173316743	173316743	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	83	210	0	ENST00000265085.5:c.7G>T	p.Asp3Tyr	p.D3Y	ENST00000265085	NM_030627.2	3	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4390.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGATTAC	NONE	.	.	.	.	.	ENSP00000265085	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000265085	Transcript	.	.	ENSG00000113742	21747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	CPEB4_HUMAN	CPEB4	HGNC	.	.	UPI000020C179	SNV	CPEB4,missense_variant,p.Asp3Tyr,ENST00000520867,;CPEB4,missense_variant,p.Asp3Tyr,ENST00000265085,;CPEB4,missense_variant,p.Asp3Tyr,ENST00000334035,;CPEB4,missense_variant,p.Asp3Tyr,ENST00000519835,;CPEB4,upstream_gene_variant,,ENST00000522336,;CPEB4,upstream_gene_variant,,ENST00000517880,;CPEB4,upstream_gene_variant,,ENST00000519152,;CPEB4,upstream_gene_variant,,ENST00000518141,;CPEB4,upstream_gene_variant,,ENST00000522344,;	1461	210	211	SUCCESS
AACSP1	729522	.	GRCh37	5	178199526	178199526	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	16	0	ENST00000503486.2:n.1010C>G		p.*337*	ENST00000503486				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGAAGGC	NONE	.	.	.	.	.	.	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000503486	Transcript	.	.	ENSG00000250420	18226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AACSP1	HGNC	.	.	.	SNV	AACSP1,non_coding_transcript_exon_variant,,ENST00000503486,;AACSP1,non_coding_transcript_exon_variant,,ENST00000521412,;AACSP1,non_coding_transcript_exon_variant,,ENST00000536654,;	1010	16	18	SUCCESS
GNB2L1	0	.	GRCh37	5	180665320	180665320	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	25	0	ENST00000512805.1:c.637-81G>C		p.*213*	ENST00000512805	NM_006098.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34324.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGAATCAATTC	NONE	.	.	.	.	.	ENSP00000426909	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000512805	Transcript	.	.	ENSG00000204628	4399	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBLP_HUMAN	GNB2L1	HGNC	E9KL35_HUMAN,D6RFX4_HUMAN,D6RF23_HUMAN	.	UPI0000001602	SNV	GNB2L1,5_prime_UTR_variant,,ENST00000514455,;GNB2L1,intron_variant,,ENST00000511900,;GNB2L1,intron_variant,,ENST00000504128,;GNB2L1,intron_variant,,ENST00000504726,;GNB2L1,intron_variant,,ENST00000512968,;GNB2L1,intron_variant,,ENST00000502844,;GNB2L1,intron_variant,,ENST00000502905,;GNB2L1,intron_variant,,ENST00000507756,;GNB2L1,intron_variant,,ENST00000376817,;GNB2L1,intron_variant,,ENST00000509535,;GNB2L1,intron_variant,,ENST00000511566,;GNB2L1,intron_variant,,ENST00000507000,;GNB2L1,intron_variant,,ENST00000510199,;GNB2L1,intron_variant,,ENST00000512805,;GNB2L1,upstream_gene_variant,,ENST00000509148,;TRIM41,downstream_gene_variant,,ENST00000315073,;GNB2L1,downstream_gene_variant,,ENST00000456394,;GNB2L1,downstream_gene_variant,,ENST00000503081,;GNB2L1,downstream_gene_variant,,ENST00000513027,;TRIM41,downstream_gene_variant,,ENST00000515499,;TRIM41,downstream_gene_variant,,ENST00000351937,;SNORD95,downstream_gene_variant,,ENST00000579879,;SNORD96A,downstream_gene_variant,,ENST00000606577,;GNB2L1,downstream_gene_variant,,ENST00000505461,;GNB2L1,downstream_gene_variant,,ENST00000503170,;GNB2L1,downstream_gene_variant,,ENST00000514318,;TRIM41,downstream_gene_variant,,ENST00000510072,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000514183,;GNB2L1,intron_variant,,ENST00000508682,;GNB2L1,intron_variant,,ENST00000504325,;GNB2L1,intron_variant,,ENST00000513060,;GNB2L1,intron_variant,,ENST00000511473,;GNB2L1,upstream_gene_variant,,ENST00000507273,;TRIM41,downstream_gene_variant,,ENST00000515223,;GNB2L1,downstream_gene_variant,,ENST00000503494,;TRIM41,downstream_gene_variant,,ENST00000503114,;GNB2L1,downstream_gene_variant,,ENST00000502548,;GNB2L1,downstream_gene_variant,,ENST00000507261,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000508044,;TRIM41,downstream_gene_variant,,ENST00000508930,;GNB2L1,downstream_gene_variant,,ENST00000508963,;GNB2L1,downstream_gene_variant,,ENST00000506312,;TRIM41,downstream_gene_variant,,ENST00000514219,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000502890,;	.	25	55	SUCCESS
IRX4	50805	.	GRCh37	5	1878852	1878852	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	62	141	0	ENST00000231357.2:c.791A>G	p.Asp264Gly	p.D264G	ENST00000231357	NM_016358.2	264	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3867.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	deleterious(0.01)	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,missense_variant,p.Asp264Gly,ENST00000231357,;IRX4,missense_variant,p.Asp264Gly,ENST00000513692,;IRX4,missense_variant,p.Asp264Gly,ENST00000505790,;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	1248	141	159	SUCCESS
CDH6	1004	.	GRCh37	5	31323299	31323299	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	68	135	0	ENST00000265071.2:c.2257C>T	p.Leu753=	p.L753=	ENST00000265071	NM_004932.3	753	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3894.1	2257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGCTGGAG	NONE	.	.	Pfam_domain:PF01049,Gene3D:4.10.900.10,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027	.	.	ENSP00000265071	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,synonymous_variant,p.%3D,ENST00000265071,;CDH6,downstream_gene_variant,,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000504835,;	2522	135	151	SUCCESS
TARS	0	.	GRCh37	5	33448802	33448802	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	57	105	0	ENST00000455217.2:c.294G>A	p.Trp98Ter	p.W98*	ENST00000455217	NM_001258438.1	98	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS58943.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGAAAAC	NONE	.	.	Gene3D:3.10.20.30,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF23	.	.	ENSP00000387710	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000455217	Transcript	.	.	ENSG00000113407	11572	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTC_HUMAN	TARS	HGNC	D6RBR8_HUMAN	.	UPI00017A6D60	SNV	TARS,stop_gained,p.Trp98Ter,ENST00000514259,;TARS,stop_gained,p.Trp39Ter,ENST00000506040,;TARS,stop_gained,p.Trp98Ter,ENST00000502553,;TARS,stop_gained,p.Trp98Ter,ENST00000265112,;TARS,stop_gained,p.Trp98Ter,ENST00000455217,;TARS,missense_variant,p.Gly31Glu,ENST00000414361,;TARS,intron_variant,,ENST00000541634,;TARS,downstream_gene_variant,,ENST00000502508,;TARS,stop_gained,p.Trp98Ter,ENST00000507716,;TARS,stop_gained,p.Trp98Ter,ENST00000505012,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,3_prime_UTR_variant,,ENST00000513066,;TARS,intron_variant,,ENST00000508361,;	416	105	128	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33892037	33892037	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	57	70	0	ENST00000504830.1:c.-76G>A		p.*26*	ENST00000504830	NM_030955.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34140.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCCCAGC	NONE	.	.	.	.	.	ENSP00000422554	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,5_prime_UTR_variant,,ENST00000515401,;ADAMTS12,5_prime_UTR_variant,,ENST00000504830,;ADAMTS12,5_prime_UTR_variant,,ENST00000352040,;RNU6-923P,upstream_gene_variant,,ENST00000364753,;ADAMTS12,upstream_gene_variant,,ENST00000509762,;	261	70	103	SUCCESS
HOMER1	9456	.	GRCh37	5	78734957	78734957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	51	90	0	ENST00000334082.6:c.403G>T	p.Asp135Tyr	p.D135Y	ENST00000334082	NM_004272.4	135	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS43335.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATCCCCGC	NONE	.	.	hmmpanther:PTHR10918:SF3,hmmpanther:PTHR10918,Superfamily_domains:SSF50729	.	.	ENSP00000334382	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000334082	Transcript	.	.	ENSG00000152413	17512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious(0.02)	.	HOME1_HUMAN	HOMER1	HGNC	.	.	UPI000006D8F2	SNV	HOMER1,missense_variant,p.Asp135Tyr,ENST00000508576,;HOMER1,missense_variant,p.Asp135Tyr,ENST00000334082,;HOMER1,intron_variant,,ENST00000282260,;HOMER1,intron_variant,,ENST00000535690,;	1846	90	106	SUCCESS
MAK	4117	.	GRCh37	6	10784806	10784806	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	63	75	0	ENST00000313243.2:c.1317-1G>T		p.X439_splice	ENST00000313243		439		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4516.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCTTGAA	NONE	.	.	.	.	.	ENSP00000313021	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313243	Transcript	.	.	ENSG00000111837	6816	.	.	HIGH	10/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAK_HUMAN	MAK	HGNC	.	.	UPI0000001BCD	SNV	MAK,splice_acceptor_variant,,ENST00000354489,;MAK,splice_acceptor_variant,,ENST00000538030,;MAK,splice_acceptor_variant,,ENST00000474039,;MAK,splice_acceptor_variant,,ENST00000313243,;SYCP2L,intron_variant,,ENST00000543878,;TMEM14B,intron_variant,,ENST00000489137,;TMEM14B,intron_variant,,ENST00000478732,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,intron_variant,,ENST00000473807,;TMEM14B,intron_variant,,ENST00000463448,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000463100,;	.	75	182	SUCCESS
PKIB	5570	.	GRCh37	6	123039083	123039083	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	8	15	0	ENST00000354275.2:c.144A>G	p.Lys48=	p.K48=	ENST00000354275		48	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS59033.1	165	MUTECT|MUSE	.	CTCAAACTGGA	NONE	.	.	PIRSF_domain:PIRSF001667,Pfam_domain:PF02827,hmmpanther:PTHR15416:SF6,hmmpanther:PTHR15416	.	.	ENSP00000258014	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000258014	Transcript	.	.	ENSG00000135549	9018	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IPKB_HUMAN	PKIB	HGNC	.	.	UPI0000423C90	SNV	PKIB,synonymous_variant,p.%3D,ENST00000354275,;PKIB,synonymous_variant,p.%3D,ENST00000368448,;PKIB,synonymous_variant,p.%3D,ENST00000368446,;PKIB,synonymous_variant,p.%3D,ENST00000392490,;PKIB,synonymous_variant,p.%3D,ENST00000368452,;PKIB,synonymous_variant,p.%3D,ENST00000392491,;PKIB,synonymous_variant,p.%3D,ENST00000258014,;	324	15	11	SUCCESS
MAP3K4	4216	.	GRCh37	6	161469280	161469280	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	73	0	ENST00000392142.4:c.344-368G>T		p.*115*	ENST00000392142	NM_005922.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34565.1	.	RADIA|MUSE|VARSCANS	.	CAGGTGTCCGT	NONE	.	.	.	.	.	ENSP00000375986	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	MODIFIER	2/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,intron_variant,,ENST00000366919,;MAP3K4,intron_variant,,ENST00000348824,;MAP3K4,intron_variant,,ENST00000366920,;MAP3K4,intron_variant,,ENST00000392142,;MAP3K4,splice_region_variant,,ENST00000446500,;MAP3K4,intron_variant,,ENST00000542952,;MAP3K4,intron_variant,,ENST00000544041,;MAP3K4,intron_variant,,ENST00000490904,;	.	73	37	SUCCESS
SMOC2	64094	.	GRCh37	6	168927046	168927046	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765267119	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	50	100	0	ENST00000356284.2:c.277G>A	p.Glu93Lys	p.E93K	ENST00000356284	NM_001166412.1	93	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5307.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGAAAGG	NONE	byFrequency	.	Superfamily_domains:SSF57610,Pfam_domain:PF00086,hmmpanther:PTHR12352:SF11,hmmpanther:PTHR12352,PROSITE_profiles:PS51162	.	.	ENSP00000346537	.	3/13	.	.	.	.	.	.	.	.	rs765267119	3/13	PASS	ENST00000354536	Transcript	.	.	ENSG00000112562	20323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0.01)	.	SMOC2_HUMAN	SMOC2	HGNC	B4DNB1_HUMAN	.	UPI0000072A56	SNV	SMOC2,missense_variant,p.Glu93Lys,ENST00000356284,;SMOC2,missense_variant,p.Glu93Lys,ENST00000354536,;	497	100	65	SUCCESS
PPT2	9374	.	GRCh37	6	32122457	32122457	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	33	59	0	ENST00000324816.6:c.86C>T	p.Pro29Leu	p.P29L	ENST00000324816		29	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4740.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCCGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11247:SF22,hmmpanther:PTHR11247	.	.	ENSP00000354608	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000361568	Transcript	.	.	ENSG00000221988	9326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.67)	.	.	PPT2	HGNC	G8JLL2_HUMAN,G8JLE1_HUMAN	.	UPI0000457411	SNV	PPT2,missense_variant,p.Pro29Leu,ENST00000395523,;PPT2,missense_variant,p.Pro29Leu,ENST00000324816,;PPT2,missense_variant,p.Pro29Leu,ENST00000375143,;PPT2,missense_variant,p.Pro29Leu,ENST00000424499,;PPT2,missense_variant,p.Pro29Leu,ENST00000375137,;PPT2,missense_variant,p.Pro29Leu,ENST00000414204,;PPT2,missense_variant,p.Pro35Leu,ENST00000361568,;PPT2,missense_variant,p.Pro29Leu,ENST00000445576,;PPT2,5_prime_UTR_variant,,ENST00000437001,;PRRT1,upstream_gene_variant,,ENST00000211413,;PRRT1,upstream_gene_variant,,ENST00000375150,;PRRT1,upstream_gene_variant,,ENST00000428778,;PRRT1,upstream_gene_variant,,ENST00000375152,;PPT2-EGFL8,non_coding_transcript_exon_variant,,ENST00000453656,;PPT2,non_coding_transcript_exon_variant,,ENST00000478521,;PPT2,non_coding_transcript_exon_variant,,ENST00000493548,;PRRT1,upstream_gene_variant,,ENST00000472641,;PRRT1,upstream_gene_variant,,ENST00000485392,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000497552,;PRRT1,upstream_gene_variant,,ENST00000494332,;PRRT1,upstream_gene_variant,,ENST00000498575,;PRRT1,upstream_gene_variant,,ENST00000475826,;PRRT1,upstream_gene_variant,,ENST00000486917,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2-EGFL8,missense_variant,p.Pro29Leu,ENST00000585246,;PPT2-EGFL8,missense_variant,p.Pro29Leu,ENST00000428388,;PPT2-EGFL8,missense_variant,p.Pro29Leu,ENST00000583227,;PPT2-EGFL8,missense_variant,p.Pro29Leu,ENST00000422437,;PPT2,missense_variant,p.Pro29Leu,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000479001,;PPT2,upstream_gene_variant,,ENST00000495908,;PRRT1,upstream_gene_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000421600,;	208	59	107	SUCCESS
KCTD20	222658	.	GRCh37	6	36442832	36442832	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	69	101	0	ENST00000373731.2:c.427C>G	p.Leu143Val	p.L143V	ENST00000373731	NM_173562.3	143	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS4821.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCTGGGA	NONE	.	.	hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000362836	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000373731	Transcript	.	.	ENSG00000112078	21052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	KCD20_HUMAN	KCTD20	HGNC	F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN	.	UPI00001AADF6	SNV	KCTD20,missense_variant,p.Leu143Val,ENST00000373731,;KCTD20,intron_variant,,ENST00000544295,;KCTD20,intron_variant,,ENST00000449081,;KCTD20,intron_variant,,ENST00000536244,;KCTD20,downstream_gene_variant,,ENST00000460983,;KCTD20,downstream_gene_variant,,ENST00000498267,;KCTD20,downstream_gene_variant,,ENST00000483557,;KCTD20,intron_variant,,ENST00000474988,;KCTD20,intron_variant,,ENST00000481911,;KCTD20,intron_variant,,ENST00000265344,;	818	101	214	SUCCESS
TDRD6	221400	.	GRCh37	6	46660441	46660441	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	84	119	0	ENST00000316081.6:c.4576A>G	p.Thr1526Ala	p.T1526A	ENST00000316081	NM_001010870.2	1526	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS34470.1	4576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCACTGTG	NONE	.	.	Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.425)	.	deleterious(0.01)	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,missense_variant,p.Thr1526Ala,ENST00000316081,;TDRD6,missense_variant,p.Thr1526Ala,ENST00000544460,;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	4576	119	270	SUCCESS
IBTK	25998	.	GRCh37	6	82912269	82912269	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	96	178	0	ENST00000306270.7:c.2705del	p.Asn902IlefsTer14	p.N902Ifs*14	ENST00000306270	NM_015525.2	902	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS34490.1	2705	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCATATTCAAT	NONE	.	.	hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2	.	.	ENSP00000305721	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000306270	Transcript	.	.	ENSG00000005700	17853	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IBTK_HUMAN	IBTK	HGNC	.	.	UPI000041929F	deletion	IBTK,frameshift_variant,p.Asn902IlefsTer14,ENST00000510291,;IBTK,frameshift_variant,p.Asn701IlefsTer14,ENST00000503631,;IBTK,frameshift_variant,p.Asn902IlefsTer14,ENST00000306270,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;	3255	178	203	SUCCESS
FLNC	2318	.	GRCh37	7	128486943	128486943	+	synonymous_variant	Silent	SNP	G	G	C	rs759650097	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	76	55	0	ENST00000325888.8:c.4272G>C	p.Gly1424=	p.G1424=	ENST00000325888	NM_001458.4	1424	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS43644.1	4272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGGGGGCG	NONE	byFrequency	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	24/48	.	.	.	.	.	.	.	.	rs759650097	24/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;FLNC,downstream_gene_variant,,ENST00000388853,;	4533	55	106	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146536896	146536896	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	102	112	0	ENST00000361727.3:c.302A>T	p.Gln101Leu	p.Q101L	ENST00000361727	NM_014141.5	101	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5889.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCAAGGAA	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000354778	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,missense_variant,p.Gln101Leu,ENST00000361727,;	818	112	168	SUCCESS
PEX1	5189	.	GRCh37	7	92132423	92132423	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	6	51	0	ENST00000248633.4:c.2158C>A	p.Pro720Thr	p.P720T	ENST00000248633	NM_000466.2	720	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS5627.1	2158	MUTECT|MUSE	.	TAAAGGATGTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00004,Gene3D:3.40.50.300,hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	.	.	ENSP00000248633	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000248633	Transcript	.	.	ENSG00000127980	8850	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.11)	.	deleterious(0)	.	PEX1_HUMAN	PEX1	HGNC	Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN	.	UPI0000001C39	SNV	PEX1,missense_variant,p.Pro720Thr,ENST00000248633,;PEX1,missense_variant,p.Pro137Thr,ENST00000541751,;PEX1,missense_variant,p.Pro398Thr,ENST00000438045,;PEX1,missense_variant,p.Pro663Thr,ENST00000428214,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,downstream_gene_variant,,ENST00000422866,;PEX1,upstream_gene_variant,,ENST00000496092,;	2254	51	144	SUCCESS
CSMD3	114788	.	GRCh37	8	113585851	113585851	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	83	0	ENST00000297405.5:c.3921A>T	p.Leu1307=	p.L1307=	ENST00000297405	NM_198123.1	1307	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6315.1	3921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTAGTAG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	24/71	.	.	.	.	.	.	.	.	.	24/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	4166	83	80	SUCCESS
MCM4	4173	.	GRCh37	8	48885442	48885442	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	78	0	ENST00000262105.2:c.1954G>T	p.Asp652Tyr	p.D652Y	ENST00000262105	NM_005914.3	652	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS6143.1	1954	MUTECT|MUSE|VARSCANS	.	TGCTGGACCCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50051,hmmpanther:PTHR11630:SF66,hmmpanther:PTHR11630,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000262105	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000262105	Transcript	1	.	ENSG00000104738	6947	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MCM4_HUMAN	MCM4	HGNC	E5RFR3_HUMAN,E5RFJ8_HUMAN,A4FS09_HUMAN	.	UPI000013D25C	SNV	MCM4,missense_variant,p.Asp652Tyr,ENST00000262105,;MCM4,missense_variant,p.Asp652Tyr,ENST00000523944,;MCM4,downstream_gene_variant,,ENST00000520637,;MCM4,downstream_gene_variant,,ENST00000518680,;MCM4,non_coding_transcript_exon_variant,,ENST00000523853,;MCM4,intron_variant,,ENST00000518382,;MCM4,upstream_gene_variant,,ENST00000521261,;MCM4,upstream_gene_variant,,ENST00000521151,;MCM4,downstream_gene_variant,,ENST00000519470,;MCM4,downstream_gene_variant,,ENST00000517709,;	2163	78	48	SUCCESS
PENK	5179	.	GRCh37	8	57353832	57353832	+	stop_retained_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	37	74	0	ENST00000314922.3:c.803A>G	p.Ter268=	p.*268=	ENST00000314922	NM_006211.3	268	tAa/tGa	0	.	.	.	.	.	C	*	protein_coding	YES	CCDS6168.1	803	RADIA|SOMATICSNIPER|VARSCANS	.	GATATTAAAAT	NONE	.	.	.	.	.	ENSP00000324248	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,stop_retained_variant,p.%3D,ENST00000314922,;PENK,stop_retained_variant,p.%3D,ENST00000451791,;PENK,intron_variant,,ENST00000517415,;PENK,downstream_gene_variant,,ENST00000518974,;PENK,downstream_gene_variant,,ENST00000523051,;PENK,downstream_gene_variant,,ENST00000518770,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000520589,;PENK,downstream_gene_variant,,ENST00000523274,;PENK,downstream_gene_variant,,ENST00000521153,;	880	74	43	SUCCESS
RP11-383H13.1	0	.	GRCh37	8	72755807	72755807	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	59	0	ENST00000537896.1:c.171C>A	p.Thr57=	p.T57=	ENST00000537896		57	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	.	171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACCCTGCC	NONE	.	.	.	.	.	ENSP00000440866	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000537896	Transcript	.	.	ENSG00000235531	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-383H13.1	Clone_based_vega_gene	B7Z945_HUMAN	.	UPI000191533B	SNV	RP11-383H13.1,synonymous_variant,p.%3D,ENST00000537896,;RP11-383H13.1,5_prime_UTR_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000521467,;MSC,intron_variant,,ENST00000325509,;RP11-383H13.1,upstream_gene_variant,,ENST00000519751,;MSC,upstream_gene_variant,,ENST00000518440,;MSC,upstream_gene_variant,,ENST00000521739,;RP11-383H13.1,upstream_gene_variant,,ENST00000457356,;RP11-383H13.1,upstream_gene_variant,,ENST00000518916,;RP11-383H13.1,missense_variant,p.Pro34Thr,ENST00000522519,;	441	59	73	SUCCESS
COL15A1	1306	.	GRCh37	9	101798477	101798477	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200935969	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	52	0	ENST00000375001.3:c.2315G>T	p.Arg772Leu	p.R772L	ENST00000375001	NM_001855.4	772	cGg/cTg	0	A:0	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS35081.1	2315	MUTECT|MUSE	.	AGACCGGGGAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24023:SF398,hmmpanther:PTHR24023	A:0.001	A:0.0001	ENSP00000364140	A:0	20/42	.	.	.	.	.	.	.	.	rs200935969	20/42	PASS	ENST00000375001	Transcript	.	A:0.0002	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	A:0	tolerated(0.3)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Arg772Leu,ENST00000375001,;COL15A1,upstream_gene_variant,,ENST00000496686,;	2738	52	60	SUCCESS
SVEP1	79987	.	GRCh37	9	113341830	113341830	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	31	0	ENST00000374469.1:c.-76C>A		p.*26*	ENST00000374469				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48004.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTGGAGAC	NONE	.	.	.	.	.	ENSP00000384917	.	1/48	.	.	.	.	.	.	.	.	.	1/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,5_prime_UTR_variant,,ENST00000401783,;SVEP1,5_prime_UTR_variant,,ENST00000374469,;SVEP1,5_prime_UTR_variant,,ENST00000374461,;SVEP1,upstream_gene_variant,,ENST00000302728,;	331	31	40	SUCCESS
BRINP1	1620	.	GRCh37	9	122011265	122011265	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	57	0	ENST00000265922.3:c.382C>G	p.His128Asp	p.H128D	ENST00000265922	NM_014618.2	128	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS6822.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGGGTGC	NONE	.	.	SMART_domains:SM00457,Pfam_domain:PF01823,hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	deleterious(0)	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,missense_variant,p.His128Asp,ENST00000265922,;BRINP1,missense_variant,p.His128Asp,ENST00000373964,;	844	57	65	SUCCESS
FCN1	2219	.	GRCh37	9	137801655	137801655	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765314208	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	39	0	ENST00000371806.3:c.970C>T	p.Arg324Trp	p.R324W	ENST00000371806	NM_002003.3	324	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6985.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGCACCT	NONE	byFrequency	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF165,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000360871	.	9/9	.	.	.	.	.	.	.	.	rs765314208	9/9	PASS	ENST00000371806	Transcript	.	.	ENSG00000085265	3623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCN1_HUMAN	FCN1	HGNC	Q92531_HUMAN	.	UPI000012A5A7	SNV	FCN1,missense_variant,p.Arg324Trp,ENST00000371806,;	1062	39	56	SUCCESS
SLC24A2	25769	.	GRCh37	9	19786089	19786089	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	30	97	0	ENST00000341998.2:c.776A>G	p.Asn259Ser	p.N259S	ENST00000341998	NM_001193288.2	259	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6493.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACATTATCC	NONE	.	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000344801	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.34)	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,missense_variant,p.Asn259Ser,ENST00000341998,;SLC24A2,missense_variant,p.Asn259Ser,ENST00000286344,;	838	97	132	SUCCESS
IFNA4	3441	.	GRCh37	9	21187461	21187461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	116	239	0	ENST00000421715.1:c.70T>C	p.Cys24Arg	p.C24R	ENST00000421715	NM_021068.2	24	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS6498.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAGCCCA	NONE	.	.	Superfamily_domains:SSF47266,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29	.	.	ENSP00000412897	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000421715	Transcript	.	.	ENSG00000236637	5425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	IFNA4_HUMAN	IFNA4	HGNC	Q9UMJ2_HUMAN	.	UPI000002BA77	SNV	IFNA4,missense_variant,p.Cys24Arg,ENST00000421715,;IFNWP9,downstream_gene_variant,,ENST00000448683,;	138	239	273	SUCCESS
MOB3B	79817	.	GRCh37	9	27330605	27330605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	102	0	ENST00000262244.5:c.631A>G	p.Thr211Ala	p.T211A	ENST00000262244	NM_024761.4	211	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6520.1	631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGTCATTT	NONE	.	.	hmmpanther:PTHR22599:SF22,hmmpanther:PTHR22599,Gene3D:1pi1A00,Superfamily_domains:0049093	.	.	ENSP00000262244	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262244	Transcript	.	.	ENSG00000120162	23825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.1)	.	MOB3B_HUMAN	MOB3B	HGNC	.	.	UPI0000047ACB	SNV	MOB3B,missense_variant,p.Thr211Ala,ENST00000262244,;	1056	102	104	SUCCESS
NXF3	56000	.	GRCh37	X	102337749	102337749	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	48	0	ENST00000395065.3:c.719C>A	p.Ala240Glu	p.A240E	ENST00000395065	NM_022052.1	240	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS14503.1	719	MUTECT|MUSE	.	TCGATGCCATC	NONE	.	.	hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12	.	.	ENSP00000378504	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.389)	.	tolerated(0.12)	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Ala151Glu,ENST00000425463,;NXF3,missense_variant,p.Ala240Glu,ENST00000395065,;NXF3,missense_variant,p.Ala117Glu,ENST00000427570,;NXF3,5_prime_UTR_variant,,ENST00000425644,;NXF3,non_coding_transcript_exon_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000494300,;NXF3,upstream_gene_variant,,ENST00000497850,;NXF3,upstream_gene_variant,,ENST00000468528,;NXF3,upstream_gene_variant,,ENST00000470724,;LL0XNC01-221F2.2,upstream_gene_variant,,ENST00000440243,;	821	48	58	SUCCESS
MIR891B	100126304	.	GRCh37	X	145082629	145082629	+	mature_miRNA_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	51	61	0	ENST00000401245.1:n.21C>A		p.*7*	ENST00000401245				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAGGTAAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000401245	Transcript	.	.	ENSG00000216064	33645	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR891B	HGNC	.	.	.	SNV	MIR891B,mature_miRNA_variant,,ENST00000401245,;MIR892A,upstream_gene_variant,,ENST00000401124,;MIR892B,upstream_gene_variant,,ENST00000401279,;	21	61	54	SUCCESS
GLRA2	2742	.	GRCh37	X	14550361	14550361	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	158	163	1	ENST00000218075.4:c.69G>C	p.Arg23Ser	p.R23S	ENST00000218075	NM_002063.3	23	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS14160.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGGACGGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF28,Prints_domain:PR01675	.	.	ENSP00000218075	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000218075	Transcript	.	.	ENSG00000101958	4327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.24)	.	GLRA2_HUMAN	GLRA2	HGNC	.	.	UPI000012BA64	SNV	GLRA2,missense_variant,p.Arg23Ser,ENST00000355020,;GLRA2,missense_variant,p.Met7Ile,ENST00000415367,;GLRA2,missense_variant,p.Arg23Ser,ENST00000218075,;GLRA2,splice_region_variant,,ENST00000443437,;	599	164	179	SUCCESS
CXorf36	0	.	GRCh37	X	45060068	45060068	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	34	0	ENST00000398000.2:c.4G>T	p.Glu2Ter	p.E2*	ENST00000398000	NM_176819.3	2	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS48096.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCCATCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR32073:SF8,hmmpanther:PTHR32073	.	.	ENSP00000381086	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	SNV	CXorf36,stop_gained,p.Glu2Ter,ENST00000377934,;CXorf36,stop_gained,p.Glu2Ter,ENST00000398000,;RP11-342D14.1,intron_variant,,ENST00000438181,;RP11-342D14.1,intron_variant,,ENST00000450527,;	79	34	37	SUCCESS
TDRD1	56165	.	GRCh37	10	115985937	115985937	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	83	0	ENST00000251864.2:c.3137T>C	p.Leu1046Pro	p.L1046P	ENST00000251864	NM_198795.1	1046	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS7588.1	3137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGGCGC	NONE	.	.	Superfamily_domains:SSF63748,SMART_domains:SM00333,Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4,PROSITE_profiles:PS50304	.	.	ENSP00000251864	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,missense_variant,p.Leu1046Pro,ENST00000369282,;TDRD1,missense_variant,p.Leu932Pro,ENST00000369281,;TDRD1,missense_variant,p.Leu1046Pro,ENST00000251864,;TDRD1,missense_variant,p.Leu1046Pro,ENST00000369280,;TDRD1,missense_variant,p.Leu650Pro,ENST00000422662,;	3290	83	94	SUCCESS
ANKRD30BP3	338579	.	GRCh37	10	45652326	45652326	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	34	0	ENST00000444850.1:n.104A>G		p.*35*	ENST00000444850				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCACCCTT	NONE	.	.	.	.	.	.	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000427229	Transcript	.	.	ENSG00000243349	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-445N18.7	Clone_based_vega_gene	.	.	.	SNV	RP11-445N18.7,non_coding_transcript_exon_variant,,ENST00000427229,;ANKRD30BP3,non_coding_transcript_exon_variant,,ENST00000444850,;ANKRD54P1,upstream_gene_variant,,ENST00000433115,;	1840	34	38	SUCCESS
GDF10	2662	.	GRCh37	10	48428812	48428812	+	synonymous_variant	Silent	SNP	G	G	A	rs374890077	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	46	109	0	ENST00000224605.2:c.1074C>T	p.Asp358=	p.D358=	ENST00000224605	NM_004962.3	358	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS7220.1	1074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGTCAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,PIRSF_domain:PIRSF037403	.	A:0.0002	ENSP00000224605	.	2/3	.	.	.	.	.	.	.	.	rs374890077	2/3	PASS	ENST00000224605	Transcript	.	.	ENSG00000107623	4215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP3B_HUMAN	GDF10	HGNC	Q8N6T2_HUMAN	.	UPI0000126A13	SNV	GDF10,synonymous_variant,p.%3D,ENST00000224605,;	1340	109	145	SUCCESS
PRKG1	5592	.	GRCh37	10	52751168	52751168	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	9	167	1	ENST00000373985.1:c.-7G>C		p.*3*	ENST00000373985	NM_001098512.2	10		0	.	.	.	.	.	C	K/N	protein_coding	.	CCDS44399.1	30	MUTECT|MUSE	.	GCCAAGATTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,PIRSF_domain:PIRSF000559	.	.	ENSP00000384200	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000401604	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.403)	.	tolerated(0.08)	.	KGP1_HUMAN	PRKG1	HGNC	Q5SQU3_HUMAN	.	UPI000016A69C	SNV	PRKG1,missense_variant,p.Lys10Asn,ENST00000401604,;PRKG1,5_prime_UTR_variant,,ENST00000373985,;	224	168	209	SUCCESS
TM9SF3	56889	.	GRCh37	10	98325145	98325145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	56	0	ENST00000371142.4:c.337G>T	p.Asp113Tyr	p.D113Y	ENST00000371142	NM_020123.3	113	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS7450.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATCTAAAT	NONE	.	.	hmmpanther:PTHR10766:SF41,hmmpanther:PTHR10766,Pfam_domain:PF02990	.	.	ENSP00000360184	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000371142	Transcript	.	.	ENSG00000077147	21529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	TM9S3_HUMAN	TM9SF3	HGNC	Q96K55_HUMAN,Q96JZ5_HUMAN,Q8WUB5_HUMAN,Q5TB53_HUMAN	.	UPI000013684E	SNV	TM9SF3,missense_variant,p.Asp113Tyr,ENST00000371142,;TM9SF3,missense_variant,p.Asp69Tyr,ENST00000443638,;TM9SF3,non_coding_transcript_exon_variant,,ENST00000464654,;NPM1P26,downstream_gene_variant,,ENST00000426339,;	554	56	81	SUCCESS
ZFYVE27	118813	.	GRCh37	10	99498236	99498236	+	start_lost,splice_region_variant	Translation_Start_Site	SNP	T	T	C	rs767402454	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	41	0	ENST00000393677.4:c.2T>C	p.Met1?	p.M1?	ENST00000393677	NM_144588.6	1	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS31262.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATGCAGA	NONE	.	.	.	.	.	ENSP00000348593	.	1/12	.	.	.	.	.	.	.	.	rs767402454	1/12	PASS	ENST00000356257	Transcript	1	.	ENSG00000155256	26559	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious_low_confidence(0)	.	ZFY27_HUMAN	ZFYVE27	HGNC	.	.	UPI00003FE526	SNV	ZFYVE27,start_lost,p.Met1?,ENST00000370613,;ZFYVE27,start_lost,p.Met1?,ENST00000337540,;ZFYVE27,start_lost,p.Met1?,ENST00000393677,;ZFYVE27,start_lost,p.Met1?,ENST00000359980,;ZFYVE27,start_lost,p.Met1?,ENST00000357540,;ZFYVE27,start_lost,p.Met1?,ENST00000453958,;ZFYVE27,start_lost,p.Met1?,ENST00000356257,;ZFYVE27,intron_variant,,ENST00000370610,;ZFYVE27,upstream_gene_variant,,ENST00000423811,;ZFYVE27,splice_region_variant,,ENST00000462887,;	3	41	41	SUCCESS
UBASH3B	84959	.	GRCh37	11	122526750	122526750	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	50	0	ENST00000284273.5:c.-8G>T		p.*3*	ENST00000284273	NM_032873.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31694.1	.	MUTECT|MUSE	.	TGGCCGCTGAG	NONE	.	.	.	.	.	ENSP00000284273	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000284273	Transcript	.	.	ENSG00000154127	29884	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBS3B_HUMAN	UBASH3B	HGNC	.	.	UPI0000047471	SNV	UBASH3B,5_prime_UTR_variant,,ENST00000284273,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000525711,;	368	50	38	SUCCESS
DPF2	5977	.	GRCh37	11	65116351	65116351	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	8	128	0	ENST00000528416.1:c.1048C>G	p.Arg350Gly	p.R350G	ENST00000528416	NM_006268.4	350	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8100.1	1048	MUTECT|MUSE	.	GCGATCGTGGC	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR10615:SF13,hmmpanther:PTHR10615,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000436901	.	10/11	.	.	.	.	.	.	.	.	COSM930384	10/11	PASS	ENST00000528416	Transcript	.	.	ENSG00000133884	9964	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	REQU_HUMAN	DPF2	HGNC	.	.	UPI000000D90F	SNV	DPF2,missense_variant,p.Arg364Gly,ENST00000252268,;DPF2,missense_variant,p.Arg166Gly,ENST00000415073,;DPF2,missense_variant,p.Arg350Gly,ENST00000528416,;DPF2,missense_variant,p.Arg75Gly,ENST00000531989,;DPF2,downstream_gene_variant,,ENST00000530993,;DPF2,downstream_gene_variant,,ENST00000532264,;DPF2,non_coding_transcript_exon_variant,,ENST00000532052,;DPF2,non_coding_transcript_exon_variant,,ENST00000524666,;DPF2,downstream_gene_variant,,ENST00000532102,;DPF2,downstream_gene_variant,,ENST00000532492,;DPF2,downstream_gene_variant,,ENST00000530973,;	1181	128	149	SUCCESS
SPCS2	9789	.	GRCh37	11	74660392	74660392	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	40	0	ENST00000263672.6:c.62G>A	p.Gly21Asp	p.G21D	ENST00000263672	NM_014752.2	21	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS44681.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGTGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000263672	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000263672	Transcript	.	.	ENSG00000118363	28962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.24)	.	SPCS2_HUMAN	SPCS2	HGNC	.	.	UPI0000135D6A	SNV	SPCS2,missense_variant,p.Gly21Asp,ENST00000530257,;SPCS2,missense_variant,p.Gly21Asp,ENST00000532972,;SPCS2,missense_variant,p.Gly21Asp,ENST00000263672,;SPCS2,5_prime_UTR_variant,,ENST00000526361,;XRRA1,upstream_gene_variant,,ENST00000528219,;XRRA1,upstream_gene_variant,,ENST00000525407,;XRRA1,upstream_gene_variant,,ENST00000321448,;XRRA1,upstream_gene_variant,,ENST00000340360,;SPCS2,upstream_gene_variant,,ENST00000526883,;XRRA1,upstream_gene_variant,,ENST00000527087,;XRRA1,upstream_gene_variant,,ENST00000531852,;AP001992.1,upstream_gene_variant,,ENST00000578538,;SPCS2,splice_donor_variant,,ENST00000528265,;SPCS2,non_coding_transcript_exon_variant,,ENST00000527225,;XRRA1,upstream_gene_variant,,ENST00000529400,;XRRA1,upstream_gene_variant,,ENST00000524430,;XRRA1,upstream_gene_variant,,ENST00000533598,;XRRA1,upstream_gene_variant,,ENST00000534041,;XRRA1,upstream_gene_variant,,ENST00000534798,;SPCS2,non_coding_transcript_exon_variant,,ENST00000527290,;XRRA1,upstream_gene_variant,,ENST00000530562,;XRRA1,upstream_gene_variant,,ENST00000531849,;	101	40	61	SUCCESS
ACACB	32	.	GRCh37	12	109677646	109677646	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749335293	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	48	0	ENST00000338432.7:c.4674C>A	p.Phe1558Leu	p.F1558L	ENST00000338432		1558	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS31898.1	4674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCGAATA	NONE	byFrequency	.	hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Pfam_domain:PF08326	.	.	ENSP00000341044	.	35/53	.	.	.	.	.	.	.	.	rs749335293	35/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	tolerated(0.14)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Phe1488Leu,ENST00000377854,;ACACB,missense_variant,p.Phe1558Leu,ENST00000338432,;ACACB,missense_variant,p.Phe1558Leu,ENST00000377848,;ACACB,missense_variant,p.Phe224Leu,ENST00000543201,;ACACB,missense_variant,p.Phe225Leu,ENST00000538526,;ACACB,upstream_gene_variant,,ENST00000537347,;ACACB,upstream_gene_variant,,ENST00000534852,;ACACB,downstream_gene_variant,,ENST00000542524,;	4793	48	62	SUCCESS
RPH3A	22895	.	GRCh37	12	113303242	113303242	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	84	0	ENST00000389385.4:c.254A>T	p.Asn85Ile	p.N85I	ENST00000389385	NM_001143854.1	85	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS44979.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAACATGA	NONE	.	.	PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903	.	.	ENSP00000374036	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000389385	Transcript	.	.	ENSG00000089169	17056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.598)	.	deleterious(0)	.	RP3A_HUMAN	RPH3A	HGNC	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN	.	UPI000013456D	SNV	RPH3A,missense_variant,p.Asn18Ile,ENST00000550901,;RPH3A,missense_variant,p.Asn85Ile,ENST00000547686,;RPH3A,missense_variant,p.Asn85Ile,ENST00000552667,;RPH3A,missense_variant,p.Asn85Ile,ENST00000415485,;RPH3A,missense_variant,p.Asn81Ile,ENST00000551052,;RPH3A,missense_variant,p.Asn85Ile,ENST00000548197,;RPH3A,missense_variant,p.Asn85Ile,ENST00000543106,;RPH3A,missense_variant,p.Asn85Ile,ENST00000551593,;RPH3A,missense_variant,p.Asn36Ile,ENST00000447659,;RPH3A,missense_variant,p.Asn85Ile,ENST00000547840,;RPH3A,missense_variant,p.Asn36Ile,ENST00000548866,;RPH3A,missense_variant,p.Asn85Ile,ENST00000549769,;RPH3A,missense_variant,p.Asn85Ile,ENST00000420983,;RPH3A,missense_variant,p.Asn85Ile,ENST00000551748,;RPH3A,missense_variant,p.Asn85Ile,ENST00000551198,;RPH3A,missense_variant,p.Asn85Ile,ENST00000547728,;RPH3A,missense_variant,p.Asn85Ile,ENST00000389385,;RPH3A,missense_variant,p.Asn85Ile,ENST00000553114,;RPH3A,downstream_gene_variant,,ENST00000546703,;RPH3A,non_coding_transcript_exon_variant,,ENST00000547222,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552679,;RPH3A,upstream_gene_variant,,ENST00000549913,;RPH3A,3_prime_UTR_variant,,ENST00000547099,;	751	84	81	SUCCESS
PTPRB	5787	.	GRCh37	12	71003577	71003577	+	synonymous_variant	Silent	SNP	G	G	A	rs773041705	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	68	0	ENST00000261266.5:c.18C>T	p.Ala6=	p.A6=	ENST00000261266	NM_002837.4	6	gcC/gcT	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44943.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGGCTCC	NONE	.	.	.	.	.	ENSP00000334928	.	.	.	.	.	.	.	.	.	.	rs773041705	.	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODIFIER	3/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;PTPRB,intron_variant,,ENST00000334414,;PTPRB,intron_variant,,ENST00000550358,;PTPRB,intron_variant,,ENST00000551525,;PTPRB,intron_variant,,ENST00000548122,;PTPRB,upstream_gene_variant,,ENST00000547715,;PTPRB,intron_variant,,ENST00000538174,;PTPRB,intron_variant,,ENST00000552253,;	.	68	87	SUCCESS
F10	2159	.	GRCh37	13	113795287	113795287	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	82	0	ENST00000375559.3:c.425A>T	p.Glu142Val	p.E142V	ENST00000375559	NM_000504.3	142	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS9530.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGAGGAAC	NONE	.	.	hmmpanther:PTHR24265:SF40,hmmpanther:PTHR24265,Pfam_domain:PF14670,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001143,SMART_domains:SM00181	.	.	ENSP00000364709	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000375559	Transcript	.	.	ENSG00000126218	3528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	tolerated(0.33)	.	FA10_HUMAN	F10	HGNC	Q5JVE7_HUMAN	.	UPI000000DB39	SNV	F10,missense_variant,p.Glu142Val,ENST00000375559,;F10,missense_variant,p.Glu142Val,ENST00000409306,;F10,missense_variant,p.Glu142Val,ENST00000375551,;F10,3_prime_UTR_variant,,ENST00000410083,;F10,non_coding_transcript_exon_variant,,ENST00000477269,;F10,non_coding_transcript_exon_variant,,ENST00000498455,;	463	82	107	SUCCESS
SLITRK1	114798	.	GRCh37	13	84454719	84454719	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	116	0	ENST00000377084.2:c.924T>A	p.Gly308=	p.G308=	ENST00000377084	NM_052910.2	308	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9464.1	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTACCTCC	NONE	.	.	hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,synonymous_variant,p.%3D,ENST00000377084,;	1810	116	78	SUCCESS
PGBD4	161779	.	GRCh37	15	34395189	34395189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	65	0	ENST00000397766.2:c.457G>T	p.Asp153Tyr	p.D153Y	ENST00000397766	NM_152595.4	153	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS10033.1	457	MUTECT|MUSE	.	ACAATGACGAG	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000380872	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000397766	Transcript	.	.	ENSG00000182405	19401	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	deleterious(0.03)	.	PGBD4_HUMAN	PGBD4	HGNC	.	.	UPI0000161593	SNV	PGBD4,missense_variant,p.Asp153Tyr,ENST00000397766,;EMC7,upstream_gene_variant,,ENST00000256545,;EMC7,upstream_gene_variant,,ENST00000528949,;EMC7,upstream_gene_variant,,ENST00000527822,;EMC7,upstream_gene_variant,,ENST00000532113,;	916	65	63	SUCCESS
INO80	54617	.	GRCh37	15	41388013	41388013	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	87	0	ENST00000361937.3:c.257G>T	p.Gly86Val	p.G86V	ENST00000361937		86	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10071.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCAGAA	NONE	.	.	hmmpanther:PTHR10799:SF213,hmmpanther:PTHR10799	.	.	ENSP00000355205	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000361937	Transcript	.	.	ENSG00000128908	26956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.243)	.	tolerated(0.26)	.	INO80_HUMAN	INO80	HGNC	Q9NUK2_HUMAN	.	UPI00001B6AFC	SNV	INO80,missense_variant,p.Gly86Val,ENST00000361937,;INO80,missense_variant,p.Gly86Val,ENST00000401393,;INO80,missense_variant,p.Gly86Val,ENST00000558357,;	682	87	96	SUCCESS
MGA	23269	.	GRCh37	15	42028493	42028493	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	32	80	0	ENST00000219905.7:c.4031G>A	p.Trp1344Ter	p.W1344*	ENST00000219905	NM_001164273.1	1344	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS55959.1	4031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGGGAGG	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,stop_gained,p.Trp53Ter,ENST00000564190,;MGA,stop_gained,p.Trp1344Ter,ENST00000219905,;MGA,stop_gained,p.Trp1344Ter,ENST00000570161,;MGA,stop_gained,p.Trp1344Ter,ENST00000545763,;MGA,stop_gained,p.Trp1344Ter,ENST00000389936,;MGA,stop_gained,p.Trp1344Ter,ENST00000566586,;	4212	80	92	SUCCESS
SLC12A1	6557	.	GRCh37	15	48500235	48500235	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1359543179	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	34	86	0	ENST00000380993.3:c.319G>A	p.Asp107Asn	p.D107N	ENST00000380993	NM_000338.2	107	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS53940.1	319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGATGCC	NONE	.	.	hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,Pfam_domain:PF08403,TIGRFAM_domain:TIGR00930	.	.	ENSP00000379822	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,missense_variant,p.Asp107Asn,ENST00000330289,;SLC12A1,missense_variant,p.Asp107Asn,ENST00000380993,;SLC12A1,missense_variant,p.Asp107Asn,ENST00000396577,;SLC12A1,missense_variant,p.Asp107Asn,ENST00000558405,;SLC12A1,missense_variant,p.Asp107Asn,ENST00000561031,;SLC12A1,intron_variant,,ENST00000559641,;CTXN2,downstream_gene_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000561127,;	534	86	94	SUCCESS
DMXL2	23312	.	GRCh37	15	51757753	51757761	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CCAAACTCA	CCAAACTCA	-	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	CCAAACTCA	CCAAACTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	166	38	196	0	ENST00000251076.5:c.7603+2_7603+10del		p.X2535_splice	ENST00000251076	NM_015263.3	2535		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS53946.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAATTCCAAACTCACCAGA	NONE	.	.	.	.	.	ENSP00000441858	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	HIGH	31/42	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	deletion	DMXL2,splice_donor_variant,,ENST00000449909,;DMXL2,splice_donor_variant,,ENST00000543779,;DMXL2,splice_donor_variant,,ENST00000560891,;DMXL2,splice_donor_variant,,ENST00000251076,;RP11-707P17.1,intron_variant,,ENST00000561007,;RP11-707P17.2,downstream_gene_variant,,ENST00000560727,;RP11-707P17.2,downstream_gene_variant,,ENST00000559173,;RP11-707P17.2,downstream_gene_variant,,ENST00000559977,;DMXL2,splice_donor_variant,,ENST00000561079,;DMXL2,splice_donor_variant,,ENST00000559498,;	.	196	204	SUCCESS
PIGB	9488	.	GRCh37	15	55647553	55647553	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1259418062	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	12	135	0	ENST00000164305.5:c.1588G>A	p.Glu530Lys	p.E530K	ENST00000164305	NM_004855.4	530	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS61641.1	1588	MUTECT|MUSE	.	TGCCAGAGGGT	NONE	.	.	hmmpanther:PTHR22760:SF4,hmmpanther:PTHR22760	.	.	ENSP00000164305	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000164305	Transcript	.	.	ENSG00000069943	8959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.802)	.	tolerated(0.09)	.	PIGB_HUMAN	PIGB	HGNC	F5H1S1_HUMAN	.	UPI0000072A05	SNV	PIGB,missense_variant,p.Glu530Lys,ENST00000164305,;PIGB,missense_variant,p.Glu335Lys,ENST00000539642,;CCPG1,3_prime_UTR_variant,,ENST00000310958,;CCPG1,3_prime_UTR_variant,,ENST00000442196,;CCPG1,intron_variant,,ENST00000564663,;CCPG1,downstream_gene_variant,,ENST00000568543,;CCPG1,downstream_gene_variant,,ENST00000425574,;CCPG1,downstream_gene_variant,,ENST00000569205,;CCPG1,downstream_gene_variant,,ENST00000568592,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;PIGB,downstream_gene_variant,,ENST00000569823,;PIGB,3_prime_UTR_variant,,ENST00000565502,;PIGB,3_prime_UTR_variant,,ENST00000565367,;PIGB,non_coding_transcript_exon_variant,,ENST00000562751,;PIGB,non_coding_transcript_exon_variant,,ENST00000563742,;CCPG1,downstream_gene_variant,,ENST00000568372,;PIGB,downstream_gene_variant,,ENST00000565402,;CCPG1,downstream_gene_variant,,ENST00000568808,;	1879	135	165	SUCCESS
SLTM	79811	.	GRCh37	15	59192012	59192012	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	41	100	0	ENST00000380516.2:c.714T>C	p.Ala238=	p.A238=	ENST00000380516	NM_001013843.1	238	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS10168.2	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAGCTTC	NONE	.	.	hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5	.	.	ENSP00000369887	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000380516	Transcript	.	.	ENSG00000137776	20709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLTM_HUMAN	SLTM	HGNC	H0YKH2_HUMAN,A8K5V8_HUMAN	.	UPI0000039EA4	SNV	SLTM,synonymous_variant,p.%3D,ENST00000249736,;SLTM,synonymous_variant,p.%3D,ENST00000558486,;SLTM,synonymous_variant,p.%3D,ENST00000380516,;SLTM,synonymous_variant,p.%3D,ENST00000560682,;SLTM,intron_variant,,ENST00000559880,;RNF111,intron_variant,,ENST00000559757,;SLTM,intron_variant,,ENST00000536328,;SLTM,upstream_gene_variant,,ENST00000432750,;SLTM,downstream_gene_variant,,ENST00000557950,;SLTM,non_coding_transcript_exon_variant,,ENST00000480144,;SLTM,intron_variant,,ENST00000559305,;SLTM,intron_variant,,ENST00000558756,;SLTM,intron_variant,,ENST00000492526,;SLTM,intron_variant,,ENST00000557924,;SLTM,upstream_gene_variant,,ENST00000473359,;SLTM,downstream_gene_variant,,ENST00000560532,;SLTM,upstream_gene_variant,,ENST00000497088,;	802	100	117	SUCCESS
OAZ2	4947	.	GRCh37	15	64995346	64995346	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	18	0	ENST00000326005.6:c.-99G>T		p.*33*	ENST00000326005	NM_002537.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58372.1	.	MUTECT|MUSE	.	CTCTGCGGGCT	NONE	.	.	.	.	.	ENSP00000463013	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000326005	Transcript	.	.	ENSG00000180304	8096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OAZ2_HUMAN	OAZ2	HGNC	J3QLV9_HUMAN	.	UPI0000130B77	SNV	OAZ2,5_prime_UTR_variant,,ENST00000559912,;OAZ2,5_prime_UTR_variant,,ENST00000560258,;OAZ2,5_prime_UTR_variant,,ENST00000559753,;OAZ2,5_prime_UTR_variant,,ENST00000326005,;AC100830.3,intron_variant,,ENST00000560387,;OAZ2,non_coding_transcript_exon_variant,,ENST00000560781,;OAZ2,non_coding_transcript_exon_variant,,ENST00000559665,;OAZ2,non_coding_transcript_exon_variant,,ENST00000560837,;OAZ2,upstream_gene_variant,,ENST00000559555,;	135	18	17	SUCCESS
IGDCC3	9543	.	GRCh37	15	65622666	65622666	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1405532603	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	89	0	ENST00000327987.4:c.1823G>A	p.Arg608His	p.R608H	ENST00000327987	NM_004884.3	608	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS10205.1	1823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGCGGACT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF106,hmmpanther:PTHR10489	.	.	ENSP00000332773	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.332)	.	deleterious(0.01)	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,missense_variant,p.Arg471His,ENST00000558354,;IGDCC3,missense_variant,p.Arg608His,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	2075	89	94	SUCCESS
SEMA7A	8482	.	GRCh37	15	74703983	74703983	+	synonymous_variant	Silent	SNP	G	G	A	rs150179930	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	25	0	ENST00000261918.4:c.1491C>T	p.Gly497=	p.G497=	ENST00000261918	NM_003612.3	497	ggC/ggT	0	A:0.0214	A:0.0182	.	A:0.0014	.	A	G	protein_coding	YES	CCDS10262.1	1491	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGCCATA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Gene3D:3.30.1680.10,Pfam_domain:PF01437,SMART_domains:SM00423,Superfamily_domains:SSF103575	A:0	A:0.0001	ENSP00000261918	A:0	12/14	.	.	.	.	.	.	.	.	rs150179930	12/14	common_in_exac	ENST00000261918	Transcript	1	A:0.0050	ENSG00000138623	10741	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,synonymous_variant,p.%3D,ENST00000261918,;SEMA7A,synonymous_variant,p.%3D,ENST00000542748,;SEMA7A,synonymous_variant,p.%3D,ENST00000543145,;SEMA7A,downstream_gene_variant,,ENST00000567345,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	2040	25	68	SUCCESS
TNRC6A	27327	.	GRCh37	16	24802005	24802005	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765501699	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	96	0	ENST00000395799.3:c.2042G>T	p.Arg681Leu	p.R681L	ENST00000395799	NM_014494.2	681	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS10624.2	2042	MUTECT|MUSE	.	TGGACGCCTTG	NONE	byFrequency	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	6/25	.	.	.	.	.	.	.	.	rs765501699	6/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.07)	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,missense_variant,p.Arg681Leu,ENST00000395799,;TNRC6A,missense_variant,p.Arg681Leu,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000561726,;TNRC6A,upstream_gene_variant,,ENST00000567232,;TNRC6A,upstream_gene_variant,,ENST00000568903,;	2171	96	85	SUCCESS
SLC5A11	115584	.	GRCh37	16	24920370	24920370	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	87	0	ENST00000347898.3:c.1603A>C	p.Thr535Pro	p.T535P	ENST00000347898	NM_052944.3	535	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS10625.1	1603	MUTECT|MUSE|VARSCANS	.	TCATCACTGTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11819:SF127,hmmpanther:PTHR11819	.	.	ENSP00000289932	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000347898	Transcript	.	.	ENSG00000158865	23091	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.323)	.	deleterious(0.01)	.	SC5AB_HUMAN	SLC5A11	HGNC	H3BN85_HUMAN	.	UPI0000036161	SNV	SLC5A11,missense_variant,p.Thr471Pro,ENST00000539472,;SLC5A11,missense_variant,p.Thr465Pro,ENST00000568579,;SLC5A11,missense_variant,p.Thr465Pro,ENST00000545376,;SLC5A11,missense_variant,p.Thr500Pro,ENST00000424767,;SLC5A11,missense_variant,p.Thr471Pro,ENST00000565769,;SLC5A11,missense_variant,p.Thr500Pro,ENST00000567758,;SLC5A11,missense_variant,p.Thr379Pro,ENST00000569071,;SLC5A11,missense_variant,p.Thr379Pro,ENST00000449109,;SLC5A11,missense_variant,p.Thr535Pro,ENST00000347898,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;	2225	87	99	SUCCESS
ADCY7	113	.	GRCh37	16	50339757	50339757	+	synonymous_variant	Silent	SNP	C	C	T	rs767477214	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	97	0	ENST00000254235.3:c.1749C>T	p.Arg583=	p.R583=	ENST00000254235	NM_001114.3	583	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10741.1	1749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCGAGGT	NONE	byFrequency	.	Pfam_domain:PF06327,hmmpanther:PTHR11920:SF273,hmmpanther:PTHR11920	.	.	ENSP00000378187	.	14/26	.	.	.	.	.	.	.	.	rs767477214,COSM1378180	14/26	PASS	ENST00000394697	Transcript	.	.	ENSG00000121281	238	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ADCY7_HUMAN	ADCY7	HGNC	I3L3Q5_HUMAN	.	UPI000004C5DB	SNV	ADCY7,synonymous_variant,p.%3D,ENST00000254235,;ADCY7,synonymous_variant,p.%3D,ENST00000538642,;ADCY7,synonymous_variant,p.%3D,ENST00000394697,;ADCY7,synonymous_variant,p.%3D,ENST00000566433,;ADCY7,3_prime_UTR_variant,,ENST00000537579,;ADCY7,downstream_gene_variant,,ENST00000568731,;ADCY7,3_prime_UTR_variant,,ENST00000567277,;ADCY7,non_coding_transcript_exon_variant,,ENST00000570187,;	2089	97	105	SUCCESS
CCDC79	0	.	GRCh37	16	66822199	66822199	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	302	139	345	1	ENST00000433154.1:c.273T>G		p.X91_splice	ENST00000433154	NM_001136505.1	91	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	.	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAAACTGA	NONE	.	.	hmmpanther:PTHR14014,hmmpanther:PTHR14014:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000463762	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000433154	Transcript	.	.	ENSG00000249961	26675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD79_HUMAN	CCDC79	HGNC	J3KSG9_HUMAN	.	UPI000166287A	SNV	CCDC79,synonymous_variant,p.%3D,ENST00000433574,;CCDC79,synonymous_variant,p.%3D,ENST00000559050,;CCDC79,synonymous_variant,p.%3D,ENST00000432602,;CCDC79,synonymous_variant,p.%3D,ENST00000415744,;CCDC79,synonymous_variant,p.%3D,ENST00000558713,;CCDC79,synonymous_variant,p.%3D,ENST00000433154,;CCDC79,splice_region_variant,,ENST00000561333,;CCDC79,synonymous_variant,p.%3D,ENST00000313294,;	535	346	441	SUCCESS
MINK1	50488	.	GRCh37	17	4789860	4789860	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	52	0	ENST00000355280.6:c.888G>A	p.Arg296=	p.R296=	ENST00000355280	NM_001024937.3	296	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45588.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGCAGGT	NONE	.	.	hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361,Gene3D:1.10.510.10	.	.	ENSP00000347427	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000355280	Transcript	.	.	ENSG00000141503	17565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MINK1_HUMAN	MINK1	HGNC	Q9HBM9_HUMAN,Q8NG69_HUMAN	.	UPI00001678BB	SNV	MINK1,synonymous_variant,p.%3D,ENST00000355280,;MINK1,synonymous_variant,p.%3D,ENST00000347992,;MINK1,synonymous_variant,p.%3D,ENST00000453408,;RN7SL784P,downstream_gene_variant,,ENST00000577319,;MINK1,synonymous_variant,p.%3D,ENST00000571207,;MINK1,3_prime_UTR_variant,,ENST00000574453,;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,;MINK1,downstream_gene_variant,,ENST00000577021,;	1084	52	60	SUCCESS
KCNJ2	3759	.	GRCh37	17	68171132	68171132	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs528403265	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	32	0	ENST00000243457.3:c.-49A>G		p.*17*	ENST00000243457	NM_000891.2			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS11688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAACTCAG	NONE	by1000G	.	.	G:0.001	.	ENSP00000243457	G:0	2/2	.	.	.	.	.	.	.	.	rs528403265	2/2	PASS	ENST00000243457	Transcript	.	G:0.0002	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,5_prime_UTR_variant,,ENST00000535240,;KCNJ2,5_prime_UTR_variant,,ENST00000243457,;	335	32	43	SUCCESS
ALYREF	10189	.	GRCh37	17	79846230	79846230	+	synonymous_variant	Silent	SNP	G	G	T	rs1019938563	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	22	0	ENST00000331204.4:c.646C>A	p.Arg216=	p.R216=	ENST00000331204	NM_005782.3	216	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32768.2	667	MUTECT|MUSE	.	TCTCCGGGTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19965,Pfam_domain:PF13865	.	.	ENSP00000421592	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000505490	Transcript	.	.	ENSG00000183684	19071	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ALYREF	HGNC	E9PB61_HUMAN	.	UPI00001AFE08	SNV	ALYREF,synonymous_variant,p.%3D,ENST00000331204,;ALYREF,synonymous_variant,p.%3D,ENST00000505490,;ANAPC11,upstream_gene_variant,,ENST00000357385,;ANAPC11,upstream_gene_variant,,ENST00000583839,;ANAPC11,upstream_gene_variant,,ENST00000584197,;ANAPC11,upstream_gene_variant,,ENST00000577747,;ANAPC11,upstream_gene_variant,,ENST00000574924,;ANAPC11,upstream_gene_variant,,ENST00000571570,;ANAPC11,upstream_gene_variant,,ENST00000571874,;ANAPC11,upstream_gene_variant,,ENST00000579133,;ANAPC11,upstream_gene_variant,,ENST00000572851,;ANAPC11,upstream_gene_variant,,ENST00000584314,;ANAPC11,upstream_gene_variant,,ENST00000582222,;ANAPC11,upstream_gene_variant,,ENST00000571024,;ANAPC11,upstream_gene_variant,,ENST00000578550,;ANAPC11,upstream_gene_variant,,ENST00000344877,;ANAPC11,upstream_gene_variant,,ENST00000579978,;ANAPC11,upstream_gene_variant,,ENST00000577425,;ANAPC11,upstream_gene_variant,,ENST00000392376,;ANAPC11,upstream_gene_variant,,ENST00000572639,;ALYREF,non_coding_transcript_exon_variant,,ENST00000504015,;ALYREF,downstream_gene_variant,,ENST00000512673,;ALYREF,downstream_gene_variant,,ENST00000511412,;	673	22	30	SUCCESS
SLC16A3	9123	.	GRCh37	17	80195333	80195333	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	31	0	ENST00000392339.1:c.687G>T	p.Val229=	p.V229=	ENST00000392339	NM_001042423.2	229	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11804.1	687	MUTECT|MUSE	.	TTTGTGCTTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF27,hmmpanther:PTHR11360,TIGRFAM_domain:TIGR00892,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000463978	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000581287	Transcript	.	.	ENSG00000141526	10924	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MOT4_HUMAN	SLC16A3	HGNC	J3QSC3_HUMAN,J3QRU2_HUMAN,J3QRA0_HUMAN,J3QQS9_HUMAN,J3QLE3_HUMAN,J3KT83_HUMAN	.	UPI000012F3CC	SNV	SLC16A3,synonymous_variant,p.%3D,ENST00000578684,;SLC16A3,synonymous_variant,p.%3D,ENST00000392341,;SLC16A3,synonymous_variant,p.%3D,ENST00000580098,;SLC16A3,synonymous_variant,p.%3D,ENST00000583025,;SLC16A3,synonymous_variant,p.%3D,ENST00000392339,;SLC16A3,synonymous_variant,p.%3D,ENST00000582743,;SLC16A3,synonymous_variant,p.%3D,ENST00000581287,;SLC16A3,synonymous_variant,p.%3D,ENST00000584689,;SLC16A3,intron_variant,,ENST00000582715,;SLC16A3,downstream_gene_variant,,ENST00000580189,;SLC16A3,downstream_gene_variant,,ENST00000582946,;SLC16A3,downstream_gene_variant,,ENST00000578522,;SLC16A3,downstream_gene_variant,,ENST00000583237,;CSNK1D,downstream_gene_variant,,ENST00000398519,;SLC16A3,downstream_gene_variant,,ENST00000577650,;SLC16A3,downstream_gene_variant,,ENST00000584781,;CSNK1D,downstream_gene_variant,,ENST00000584672,;SLC16A3,downstream_gene_variant,,ENST00000578574,;SLC16A3,downstream_gene_variant,,ENST00000579572,;SLC16A3,downstream_gene_variant,,ENST00000578810,;SLC16A3,downstream_gene_variant,,ENST00000581642,;	3009	31	74	SUCCESS
SOGA2	0	.	GRCh37	18	8784213	8784213	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1424023757	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	30	0	ENST00000306329.11:c.2183G>A	p.Arg728His	p.R728H	ENST00000306329		728	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11841.1	1103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGCTGCG	NONE	.	.	hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	.	ENSP00000352927	.	6/17	.	.	.	.	.	.	.	.	COSM359161	6/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,missense_variant,p.Arg368His,ENST00000517570,;SOGA2,missense_variant,p.Arg368His,ENST00000400050,;SOGA2,missense_variant,p.Arg728His,ENST00000306329,;SOGA2,missense_variant,p.Arg368His,ENST00000359865,;SOGA2,5_prime_UTR_variant,,ENST00000306285,;SOGA2,upstream_gene_variant,,ENST00000521018,;SOGA2,upstream_gene_variant,,ENST00000523811,;SOGA2,missense_variant,p.Arg210His,ENST00000520495,;SOGA2,upstream_gene_variant,,ENST00000517554,;	1245	30	52	SUCCESS
ICAM5	7087	.	GRCh37	19	10403842	10403842	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	49	0	ENST00000221980.4:c.1385G>T	p.Arg462Leu	p.R462L	ENST00000221980	NM_003259.3	462	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12233.1	1385	MUTECT|MUSE	.	CACTCGGGCGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000221980	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000221980	Transcript	.	.	ENSG00000105376	5348	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.854)	.	tolerated(0.17)	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,missense_variant,p.Arg462Leu,ENST00000221980,;ICAM5,downstream_gene_variant,,ENST00000587398,;ICAM4,downstream_gene_variant,,ENST00000393717,;ICAM4,downstream_gene_variant,,ENST00000380770,;ICAM4,downstream_gene_variant,,ENST00000340992,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	1448	49	44	SUCCESS
ATP4A	495	.	GRCh37	19	36050844	36050844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567483940	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	50	166	0	ENST00000262623.3:c.919G>A	p.Ala307Thr	p.A307T	ENST00000262623	NM_000704.2	307	Gcg/Acg	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS12467.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCGATGA	NONE	byFrequency|by1000G	.	Prints_domain:PR00121,Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Transmembrane_helices:TMhelix	T:0.002	.	ENSP00000262623	T:0	7/22	.	.	.	.	.	.	.	.	rs567483940	7/22	PASS	ENST00000262623	Transcript	.	T:0.0004	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	T:0	tolerated(1)	.	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Ala307Thr,ENST00000262623,;ATP4A,downstream_gene_variant,,ENST00000590916,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,upstream_gene_variant,,ENST00000592131,;	948	166	169	SUCCESS
ZNF607	84775	.	GRCh37	19	38189778	38189778	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	63	0	ENST00000355202.4:c.1254G>A	p.Glu418=	p.E418=	ENST00000355202	NM_032689.4	418	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS33006.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCTCACC	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF249,PROSITE_profiles:PS50157	.	.	ENSP00000347338	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355202	Transcript	.	.	ENSG00000198182	28192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN607_HUMAN	ZNF607	HGNC	Q59G67_HUMAN,K7EN48_HUMAN	.	UPI000040BC07	SNV	ZNF607,synonymous_variant,p.%3D,ENST00000395835,;ZNF607,synonymous_variant,p.%3D,ENST00000355202,;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;	1850	63	67	SUCCESS
MEGF8	1954	.	GRCh37	19	42862946	42862946	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776666559	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	104	0	ENST00000251268.6:c.5183G>T	p.Arg1728Leu	p.R1728L	ENST00000251268		1728	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12604.2	4982	MUTECT|MUSE	.	AGATCGTATGA	NONE	byFrequency	.	hmmpanther:PTHR10574:SF241,hmmpanther:PTHR10574	.	.	ENSP00000334219	.	29/41	.	.	.	.	.	.	.	.	rs776666559	29/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.76)	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Arg1661Leu,ENST00000334370,;MEGF8,missense_variant,p.Arg1728Leu,ENST00000251268,;MEGF8,upstream_gene_variant,,ENST00000598762,;	5617	104	90	SUCCESS
KCNN4	3783	.	GRCh37	19	44278585	44278585	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	60	0	ENST00000262888.3:c.442G>C	p.Gly148Arg	p.G148R	ENST00000262888	NM_002250.2	148	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS12630.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCTTGGC	NONE	.	.	hmmpanther:PTHR10153:SF4,hmmpanther:PTHR10153,Gene3D:1.10.287.70	.	.	ENSP00000262888	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000262888	Transcript	.	.	ENSG00000104783	6293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	tolerated(0.39)	.	KCNN4_HUMAN	KCNN4	HGNC	M0R2E8_HUMAN,M0QZ70_HUMAN	.	UPI0000000DF3	SNV	KCNN4,missense_variant,p.Gly148Arg,ENST00000262888,;KCNN4,upstream_gene_variant,,ENST00000598836,;KCNN4,non_coding_transcript_exon_variant,,ENST00000599107,;KCNN4,intron_variant,,ENST00000599720,;KCNN4,upstream_gene_variant,,ENST00000600408,;KCNN4,upstream_gene_variant,,ENST00000601549,;	838	60	45	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48602999	48602999	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs574891473	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	86	0	ENST00000599921.1:c.376G>C	p.Ala126Pro	p.A126P	ENST00000599921		126	Gca/Cca	0	.	T:0	.	T:0	.	G	A/P	protein_coding	YES	CCDS59403.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCTTGGA	NONE	by1000G	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF28,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	T:0.001	.	ENSP00000472546	T:0	5/17	.	.	.	.	.	.	.	.	rs574891473,COSM998853	5/17	PASS	ENST00000599111	Transcript	.	T:0.0002	ENSG00000105499	9037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.712)	T:0	deleterious(0)	0,1	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,missense_variant,p.Ala126Pro,ENST00000599921,;PLA2G4C,missense_variant,p.Ala126Pro,ENST00000413144,;PLA2G4C,missense_variant,p.Ala126Pro,ENST00000354276,;PLA2G4C,missense_variant,p.Ala136Pro,ENST00000599111,;PLA2G4C,downstream_gene_variant,,ENST00000596352,;PLA2G4C,upstream_gene_variant,,ENST00000601946,;PLA2G4C,upstream_gene_variant,,ENST00000599239,;PLA2G4C,downstream_gene_variant,,ENST00000595899,;PLA2G4C,downstream_gene_variant,,ENST00000594156,;PLA2G4C,downstream_gene_variant,,ENST00000598813,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599063,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000598457,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000597377,;PLA2G4C,upstream_gene_variant,,ENST00000597713,;PLA2G4C,downstream_gene_variant,,ENST00000595487,;PLA2G4C,downstream_gene_variant,,ENST00000600170,;	708	86	91	SUCCESS
FCGRT	2217	.	GRCh37	19	50017250	50017250	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765121002	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	67	0	ENST00000221466.5:c.185A>T	p.Asn62Ile	p.N62I	ENST00000221466	NM_001136019.2	62	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS12770.1	185	MUTECT|MUSE	.	CTACAATAGCC	NONE	.	.	hmmpanther:PTHR16675:SF3,hmmpanther:PTHR16675,Pfam_domain:PF00129,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000221466	.	3/7	.	.	.	.	.	.	.	.	rs765121002	3/7	PASS	ENST00000221466	Transcript	.	.	ENSG00000104870	3621	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	FCGRN_HUMAN	FCGRT	HGNC	Q8N166_HUMAN,M0R2T3_HUMAN,M0R266_HUMAN,M0QYM4_HUMAN	.	UPI0000119C21	SNV	FCGRT,missense_variant,p.Asn62Ile,ENST00000221466,;FCGRT,missense_variant,p.Asn62Ile,ENST00000600273,;FCGRT,missense_variant,p.Asn62Ile,ENST00000596975,;FCGRT,missense_variant,p.Asn26Ile,ENST00000593381,;FCGRT,missense_variant,p.Asn62Ile,ENST00000598491,;FCGRT,missense_variant,p.Asn62Ile,ENST00000426395,;FCGRT,5_prime_UTR_variant,,ENST00000599701,;FCGRT,intron_variant,,ENST00000599988,;FCGRT,upstream_gene_variant,,ENST00000598076,;FCGRT,non_coding_transcript_exon_variant,,ENST00000594823,;FCGRT,non_coding_transcript_exon_variant,,ENST00000595677,;FCGRT,missense_variant,p.Asn61Ile,ENST00000598949,;FCGRT,missense_variant,p.Asn61Ile,ENST00000598319,;FCGRT,missense_variant,p.Asn62Ile,ENST00000598927,;FCGRT,non_coding_transcript_exon_variant,,ENST00000598936,;FCGRT,non_coding_transcript_exon_variant,,ENST00000452439,;FCGRT,non_coding_transcript_exon_variant,,ENST00000595881,;FCGRT,intron_variant,,ENST00000593431,;FCGRT,intron_variant,,ENST00000596147,;	671	67	67	SUCCESS
ZNF534	147658	.	GRCh37	19	52934700	52934700	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	37	115	0	ENST00000332323.6:c.-28T>A		p.*10*	ENST00000332323	NM_001143939.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTCGGAA	NONE	.	.	.	.	.	ENSP00000327538	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000332323	Transcript	.	.	ENSG00000198633	26337	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN534_HUMAN	ZNF534	HGNC	.	.	UPI0000351984	SNV	ZNF534,5_prime_UTR_variant,,ENST00000332323,;ZNF534,5_prime_UTR_variant,,ENST00000433050,;ZNF534,5_prime_UTR_variant,,ENST00000301085,;ZNF534,5_prime_UTR_variant,,ENST00000432303,;	34	115	136	SUCCESS
NLRP4	147945	.	GRCh37	19	56369797	56369797	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	47	0	ENST00000301295.6:c.1038C>T	p.Ile346=	p.I346=	ENST00000301295	NM_134444.4	346	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12936.1	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCCTGTG	NONE	.	.	hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Superfamily_domains:SSF52540	.	.	ENSP00000301295	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000301295	Transcript	.	.	ENSG00000160505	22943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,synonymous_variant,p.%3D,ENST00000301295,;NLRP4,synonymous_variant,p.%3D,ENST00000346986,;NLRP4,synonymous_variant,p.%3D,ENST00000587891,;NLRP4,upstream_gene_variant,,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	1460	47	71	SUCCESS
GPR108	56927	.	GRCh37	19	6732044	6732044	+	synonymous_variant	Silent	SNP	G	G	T	rs755566793	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	39	0	ENST00000264080.7:c.1248C>A	p.Pro416=	p.P416=	ENST00000264080	NM_001080452.1	416	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42479.1	1248	MUTECT|MUSE	.	ACTACGGGGAA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21229:SF11,hmmpanther:PTHR21229,Pfam_domain:PF06814	.	.	ENSP00000264080	.	13/18	.	.	.	.	.	.	.	.	rs755566793,COSM569063	13/18	PASS	ENST00000264080	Transcript	.	.	ENSG00000125734	17829	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	GP108_HUMAN	GPR108	HGNC	Q96I30_HUMAN,M0QZ03_HUMAN,G5E9L6_HUMAN	.	UPI00001D8222	SNV	GPR108,synonymous_variant,p.%3D,ENST00000598955,;GPR108,synonymous_variant,p.%3D,ENST00000430424,;GPR108,synonymous_variant,p.%3D,ENST00000594500,;GPR108,synonymous_variant,p.%3D,ENST00000264080,;GPR108,synonymous_variant,p.%3D,ENST00000594034,;GPR108,downstream_gene_variant,,ENST00000597298,;GPR108,downstream_gene_variant,,ENST00000601716,;C3,upstream_gene_variant,,ENST00000600744,;GPR108,non_coding_transcript_exon_variant,,ENST00000598626,;GPR108,non_coding_transcript_exon_variant,,ENST00000537722,;GPR108,3_prime_UTR_variant,,ENST00000597706,;GPR108,3_prime_UTR_variant,,ENST00000595908,;GPR108,downstream_gene_variant,,ENST00000601402,;GPR108,downstream_gene_variant,,ENST00000597043,;GPR108,downstream_gene_variant,,ENST00000600773,;GPR108,downstream_gene_variant,,ENST00000595620,;GPR108,downstream_gene_variant,,ENST00000595108,;GPR108,downstream_gene_variant,,ENST00000598052,;	1275	39	47	SUCCESS
MUC16	94025	.	GRCh37	19	9074914	9074914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	60	121	0	ENST00000397910.4:c.12532T>C	p.Ser4178Pro	p.S4178P	ENST00000397910	NM_024690.2	4178	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS54212.1	12532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGATGTCA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser4178Pro,ENST00000397910,;	12736	121	172	SUCCESS
AADACL3	126767	.	GRCh37	1	12785194	12785194	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748929112	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	35	106	0	ENST00000359318.5:c.284G>A	p.Arg95His	p.R95H	ENST00000359318	NM_001103170.1	95	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS41253.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGCAAGT	NONE	byFrequency	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF107,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474	.	.	ENSP00000352268	.	4/4	.	.	.	.	.	.	.	.	rs748929112,COSM1181144,COSM1181143	4/4	PASS	ENST00000359318	Transcript	.	.	ENSG00000188984	32037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.467)	.	tolerated(0.06)	0,1,1	ADCL3_HUMAN	AADACL3	HGNC	.	.	UPI00001611D0	SNV	AADACL3,missense_variant,p.Arg95His,ENST00000359318,;AADACL3,missense_variant,p.Arg25His,ENST00000332530,;	489	106	127	SUCCESS
GJA8	2703	.	GRCh37	1	147380859	147380859	+	synonymous_variant	Silent	SNP	C	C	T	rs959340023	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	36	65	0	ENST00000369235.1:c.777C>T	p.Ser259=	p.S259=	ENST00000369235		259	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30834.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCATCCA	NONE	.	.	hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	SNV	GJA8,synonymous_variant,p.%3D,ENST00000240986,;GJA8,synonymous_variant,p.%3D,ENST00000369235,;	830	65	105	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204394000	204394000	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs376434764	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	46	93	0	ENST00000367187.3:c.4885C>T	p.Arg1629Ter	p.R1629*	ENST00000367187	NM_002646.3	1629	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS1446.1	4885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGAGATC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49562	.	A:0.0001	ENSP00000356155	.	34/34	.	.	.	.	.	.	.	.	rs376434764	34/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,stop_gained,p.Arg1629Ter,ENST00000367187,;PIK3C2B,stop_gained,p.Arg1601Ter,ENST00000424712,;RP11-739N20.2,intron_variant,,ENST00000443515,;	5442	93	110	SUCCESS
CAMK2N1	55450	.	GRCh37	1	20811831	20811831	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	37	0	ENST00000375078.3:c.42C>A	p.Pro14=	p.P14=	ENST00000375078	NM_018584.5	14	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS207.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTAGGGGCT	NONE	.	.	hmmpanther:PTHR31007,hmmpanther:PTHR31007:SF2,Pfam_domain:PF15170	.	.	ENSP00000364219	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375078	Transcript	.	.	ENSG00000162545	24190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK2N1_HUMAN	CAMK2N1	HGNC	Q7L2B8_HUMAN	.	UPI000013E179	SNV	CAMK2N1,synonymous_variant,p.%3D,ENST00000375078,;CAMK2N1,upstream_gene_variant,,ENST00000489020,;	883	37	36	SUCCESS
OR14A16	284532	.	GRCh37	1	247978151	247978151	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs756063893	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	31	133	0	ENST00000357627.1:c.881T>C	p.Ile294Thr	p.I294T	ENST00000357627	NM_001001966.1	294	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31097.1	881	RADIA|MUTECT|MUSE	.	CCTTTATGGCC	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000350248	.	1/1	.	.	.	.	.	.	.	.	rs756063893	1/1	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.119)	.	deleterious(0)	.	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	SNV	OR14A16,missense_variant,p.Ile294Thr,ENST00000357627,;	881	133	143	SUCCESS
USP1	7398	.	GRCh37	1	62916161	62916161	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	37	107	0	ENST00000339950.4:c.1867A>C	p.Lys623Gln	p.K623Q	ENST00000339950	NM_003368.4	623	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS621.1	1867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTAAGCCA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378,PROSITE_profiles:PS50235	.	.	ENSP00000343526	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000339950	Transcript	.	.	ENSG00000162607	12607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated(0.14)	.	UBP1_HUMAN	USP1	HGNC	C9JWX4_HUMAN,C9JC88_HUMAN	.	UPI00001379D4	SNV	USP1,missense_variant,p.Lys623Gln,ENST00000371146,;USP1,missense_variant,p.Lys623Gln,ENST00000339950,;DOCK7,downstream_gene_variant,,ENST00000251157,;DOCK7,downstream_gene_variant,,ENST00000340370,;DOCK7,downstream_gene_variant,,ENST00000454575,;	2682	107	111	SUCCESS
RPE65	6121	.	GRCh37	1	68897225	68897225	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753540419	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	74	0	ENST00000262340.5:c.1172C>T	p.Ala391Val	p.A391V	ENST00000262340	NM_000329.2	391	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS643.1	1172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGCAGTT	NONE	.	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7,Pfam_domain:PF03055	.	.	ENSP00000262340	.	11/14	.	.	.	.	.	.	.	.	rs753540419	11/14	PASS	ENST00000262340	Transcript	.	.	ENSG00000116745	10294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.684)	.	deleterious(0)	.	RPE65_HUMAN	RPE65	HGNC	Q2EKB8_HUMAN,C7FEP0_HUMAN	.	UPI000004346C	SNV	RPE65,missense_variant,p.Ala391Val,ENST00000262340,;	1226	74	83	SUCCESS
CAMTA1	23261	.	GRCh37	1	7723459	7723459	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	111	0	ENST00000303635.7:c.852C>T	p.Arg284=	p.R284=	ENST00000303635	NM_015215.2	284	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30576.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGCATCAT	BUFFER|p.S287L|c.860C>T|3	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,synonymous_variant,p.%3D,ENST00000303635,;CAMTA1,synonymous_variant,p.%3D,ENST00000439411,;	1059	111	118	SUCCESS
AGRN	375790	.	GRCh37	1	976939	976939	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779576677	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	25	0	ENST00000379370.2:c.1034G>T	p.Arg345Leu	p.R345L	ENST00000379370	NM_198576.3	345	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS30551.1	1034	MUTECT|MUSE	.	CCTACGGCCCG	NONE	.	.	Superfamily_domains:SSF100895,hmmpanther:PTHR10574:SF227,hmmpanther:PTHR10574,PROSITE_profiles:PS51465	.	.	ENSP00000368678	.	6/36	.	.	.	.	.	.	.	.	rs779576677	6/36	PASS	ENST00000379370	Transcript	.	.	ENSG00000188157	329	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.569)	.	tolerated(0.32)	.	AGRIN_HUMAN	AGRN	HGNC	Q5XG79_HUMAN	.	UPI00001D7C8B	SNV	AGRN,missense_variant,p.Arg345Leu,ENST00000379370,;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,upstream_gene_variant,,ENST00000479707,;AGRN,downstream_gene_variant,,ENST00000469403,;	1084	25	23	SUCCESS
MC3R	4159	.	GRCh37	20	54824818	54824818	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1286756644	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	50	122	0	ENST00000243911.2:c.919C>T	p.Arg307Cys	p.R307C	ENST00000243911	NM_019888.3	307	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13449.2	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCGCAAC	BUFFER|p.R344C|c.1030C>T|3	.	.	hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00534,Prints_domain:PR00237	.	.	ENSP00000243911	.	1/1	.	.	.	.	.	.	.	.	COSM94683	1/1	PASS	ENST00000243911	Transcript	1	.	ENSG00000124089	6931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	MC3R_HUMAN	MC3R	HGNC	.	.	UPI0000E5A34B	SNV	MC3R,missense_variant,p.Arg307Cys,ENST00000243911,;	1031	122	192	SUCCESS
CHRNA4	1137	.	GRCh37	20	61981053	61981053	+	synonymous_variant	Silent	SNP	G	G	A	rs1259026322	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	54	76	0	ENST00000370263.4:c.1710C>T	p.Gly570=	p.G570=	ENST00000370263	NM_000744.6	570	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13517.1	1710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGCCCTC	BUFFER|p.A567V|c.1700C>T|3	.	.	hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000359285	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,synonymous_variant,p.%3D,ENST00000370263,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;	1932	76	115	SUCCESS
TPTE	7179	.	GRCh37	21	10971325	10971325	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs139096194	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	47	0	ENST00000361285.4:c.32C>A	p.Ala11Glu	p.A11E	ENST00000361285	NM_199261.2	11	gCg/gAg	0	A:0	A:0.0008	.	A:0	.	T	A/E	protein_coding	YES	CCDS13560.2	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGCCAGG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0006	ENSP00000355208	A:0.001	5/24	.	.	.	.	.	.	.	.	rs139096194,COSM180489,COSM1578621	5/24	PASS	ENST00000361285	Transcript	.	A:0.0004	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0)	A:0	tolerated_low_confidence(0.11)	0,1,1	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Ala11Glu,ENST00000361285,;TPTE,missense_variant,p.Ala11Glu,ENST00000328758,;TPTE,missense_variant,p.Ala11Glu,ENST00000342420,;TPTE,missense_variant,p.Ala11Glu,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,intron_variant,,ENST00000447568,;	362	47	88	SUCCESS
KRTAP13-2	337959	.	GRCh37	21	31744148	31744148	+	synonymous_variant	Silent	SNP	T	T	C	rs769694331	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	83	0	ENST00000399889.2:c.384A>G	p.Arg128=	p.R128=	ENST00000399889	NM_181621.3	128	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS13589.1	384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGATCTGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17	.	.	ENSP00000382777	.	1/1	.	.	.	.	.	.	.	.	rs769694331	1/1	PASS	ENST00000399889	Transcript	.	.	ENSG00000182816	18923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR132_HUMAN	KRTAP13-2	HGNC	.	.	UPI000003B46A	SNV	KRTAP13-2,synonymous_variant,p.%3D,ENST00000399889,;MIR4327,downstream_gene_variant,,ENST00000581194,;	410	83	84	SUCCESS
POTEH	23784	.	GRCh37	22	16282259	16282259	+	synonymous_variant	Silent	SNP	C	C	T	rs3931625	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	14	0	ENST00000343518.6:c.807G>A	p.Pro269=	p.P269=	ENST00000343518	NM_001136213.1	269	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS46658.1	807	RADIA|VARSCANS	.	ATATTCGGATC	NONE	byFrequency|byCluster|by2Hit2Allele	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000340610	.	3/11	.	.	.	.	.	.	.	.	rs3931625	3/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,synonymous_variant,p.%3D,ENST00000343518,;POTEH-AS1,downstream_gene_variant,,ENST00000422014,;POTEH,synonymous_variant,p.%3D,ENST00000452800,;	859	14	18	SUCCESS
PRODH	5625	.	GRCh37	22	18905965	18905965	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370792497	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	81	0	ENST00000357068.6:c.1291C>A	p.Arg431Ser	p.R431S	ENST00000357068	NM_016335.4	431	Cgc/Agc	0	A:0	.	.	.	.	T	R/S	protein_coding	YES	CCDS13754.1	1291	MUTECT|MUSE	.	ACGGCGAGCCA	CODON|p.R431H|c.1292G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF4,Pfam_domain:PF01619,Gene3D:3.20.20.220,Superfamily_domains:SSF51730	.	A:0.0001	ENSP00000349577	.	11/14	.	.	.	.	.	.	.	.	rs370792497	11/14	PASS	ENST00000357068	Transcript	.	.	ENSG00000100033	9453	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.906)	.	deleterious(0.02)	.	PROD_HUMAN	PRODH	HGNC	E7EQL6_HUMAN,C9JIW4_HUMAN	.	UPI00001AE5E1	SNV	PRODH,missense_variant,p.Arg323Ser,ENST00000420436,;PRODH,missense_variant,p.Arg431Ser,ENST00000357068,;PRODH,missense_variant,p.Arg323Ser,ENST00000334029,;PRODH,downstream_gene_variant,,ENST00000450579,;PRODH,downstream_gene_variant,,ENST00000438924,;PRODH,downstream_gene_variant,,ENST00000457083,;PRODH,non_coding_transcript_exon_variant,,ENST00000313755,;PRODH,non_coding_transcript_exon_variant,,ENST00000491604,;PRODH,non_coding_transcript_exon_variant,,ENST00000482858,;PRODH,non_coding_transcript_exon_variant,,ENST00000429300,;PRODH,non_coding_transcript_exon_variant,,ENST00000609229,;DGCR6,downstream_gene_variant,,ENST00000483718,;PRODH,downstream_gene_variant,,ENST00000446371,;PRODH,downstream_gene_variant,,ENST00000399694,;	1557	81	77	SUCCESS
AC002472.13	0	.	GRCh37	22	21403118	21403118	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	26	0	ENST00000442047.1:c.416-122C>T		p.*139*	ENST00000442047				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CAACCCCAGGA	NONE	.	.	.	.	.	ENSP00000341179	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342608	Transcript	.	.	ENSG00000187905	.	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YV012_HUMAN	AC002472.13	Clone_based_vega_gene	.	.	UPI0001642928	SNV	AC002472.13,3_prime_UTR_variant,,ENST00000543388,;AC002472.13,intron_variant,,ENST00000442047,;AC002472.13,intron_variant,,ENST00000342608,;AC002472.11,downstream_gene_variant,,ENST00000450652,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000473769,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000497328,;P2RX6P,upstream_gene_variant,,ENST00000439119,;P2RX6P,upstream_gene_variant,,ENST00000450626,;P2RX6P,upstream_gene_variant,,ENST00000382931,;	.	26	27	SUCCESS
CARD10	29775	.	GRCh37	22	37893159	37893159	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753304481	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	74	80	0	ENST00000251973.5:c.1814G>A	p.Arg605Gln	p.R605Q	ENST00000251973	NM_014550.3	605	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13948.1	1814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCGGCCA	NONE	byFrequency	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF4	.	.	ENSP00000384570	.	13/21	.	.	.	.	.	.	.	.	rs753304481	13/21	PASS	ENST00000403299	Transcript	.	.	ENSG00000100065	16422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.33)	.	CAR10_HUMAN	CARD10	HGNC	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN	.	UPI0000044645	SNV	CARD10,missense_variant,p.Arg246Gln,ENST00000437756,;CARD10,missense_variant,p.Arg605Gln,ENST00000251973,;CARD10,missense_variant,p.Arg319Gln,ENST00000406271,;CARD10,missense_variant,p.Arg605Gln,ENST00000403299,;CARD10,missense_variant,p.Arg77Gln,ENST00000433485,;CARD10,non_coding_transcript_exon_variant,,ENST00000486118,;CARD10,upstream_gene_variant,,ENST00000488141,;CARD10,upstream_gene_variant,,ENST00000467812,;	2031	80	138	SUCCESS
CHADL	150356	.	GRCh37	22	41631315	41631315	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	34	0	ENST00000216241.9:c.2096C>A	p.Ala699Asp	p.A699D	ENST00000216241	NM_138481.1	699	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS46715.1	2096	RADIA|VARSCANS	.	AGGTGGCCCCC	NONE	.	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF24,Gene3D:3.80.10.10,SMART_domains:SM00082	.	.	ENSP00000216241	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000216241	Transcript	.	.	ENSG00000100399	25165	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	CHADL_HUMAN	CHADL	HGNC	.	.	UPI00001C2057	SNV	CHADL,missense_variant,p.Ala196Asp,ENST00000455425,;CHADL,missense_variant,p.Ala699Asp,ENST00000216241,;CHADL,intron_variant,,ENST00000417999,;L3MBTL2,downstream_gene_variant,,ENST00000216237,;L3MBTL2,downstream_gene_variant,,ENST00000479978,;L3MBTL2,downstream_gene_variant,,ENST00000452106,;L3MBTL2,downstream_gene_variant,,ENST00000466589,;	2149	34	30	SUCCESS
ACO2	50	.	GRCh37	22	41895734	41895734	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	17	0	ENST00000216254.4:c.41C>G	p.Ala14Gly	p.A14G	ENST00000216254	NM_001098.2	14	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS14017.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGCTCTGG	NONE	.	.	.	.	.	ENSP00000216254	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000216254	Transcript	.	.	ENSG00000100412	118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated_low_confidence(0.12)	.	ACON_HUMAN	ACO2	HGNC	B4DZ08_HUMAN,B4DEC3_HUMAN	.	UPI000003CA3B	SNV	ACO2,missense_variant,p.Ala14Gly,ENST00000216254,;ACO2,missense_variant,p.Ala14Gly,ENST00000396512,;ACO2,intron_variant,,ENST00000471094,;	63	17	26	SUCCESS
PLA2R1	22925	.	GRCh37	2	160840493	160840493	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1177930274	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	63	180	0	ENST00000283243.7:c.2129C>A	p.Ala710Asp	p.A710D	ENST00000283243	NM_001195641.1	710	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33309.1	2129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGGCAAAG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	tolerated(0.12)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Ala710Asp,ENST00000283243,;PLA2R1,missense_variant,p.Ala710Asp,ENST00000392771,;	2336	180	186	SUCCESS
RAPGEF4	11069	.	GRCh37	2	173782599	173782599	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	56	0	ENST00000397081.3:c.514G>T	p.Asp172Tyr	p.D172Y	ENST00000397081	NM_007023.3	172	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS42775.1	514	MUTECT|MUSE	.	ACAATGACAGT	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175	.	.	ENSP00000380271	.	5/31	.	.	.	.	.	.	.	.	COSM364522	5/31	PASS	ENST00000397081	Transcript	.	.	ENSG00000091428	16626	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.838)	.	tolerated(0.06)	1	RPGF4_HUMAN	RAPGEF4	HGNC	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN	.	UPI000006D4C7	SNV	RAPGEF4,missense_variant,p.Asp28Tyr,ENST00000397087,;RAPGEF4,missense_variant,p.Asp172Tyr,ENST00000409036,;RAPGEF4,missense_variant,p.Asp172Tyr,ENST00000264111,;RAPGEF4,missense_variant,p.Asp19Tyr,ENST00000539331,;RAPGEF4,missense_variant,p.Asp19Tyr,ENST00000538974,;RAPGEF4,missense_variant,p.Asp172Tyr,ENST00000397081,;RAPGEF4,missense_variant,p.Asp19Tyr,ENST00000540783,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473003,;RAPGEF4,downstream_gene_variant,,ENST00000484331,;	657	56	69	SUCCESS
MYT1L	23040	.	GRCh37	2	1926429	1926429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs573013583	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	76	0	ENST00000399161.2:c.1112C>T	p.Thr371Met	p.T371M	ENST00000399161	NM_015025.2	371	aCg/aTg	0	.	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS46222.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCGTCCTT	NONE	by1000G	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	A:0	.	ENSP00000396103	A:0.001	10/25	.	.	.	.	.	.	.	.	rs573013583	10/25	PASS	ENST00000428368	Transcript	.	A:0.0002	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	A:0	tolerated_low_confidence(0.16)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Thr371Met,ENST00000399161,;MYT1L,missense_variant,p.Thr371Met,ENST00000428368,;MYT1L,missense_variant,p.Thr25Met,ENST00000602387,;	1782	76	89	SUCCESS
UNC80	285175	.	GRCh37	2	210696272	210696272	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	60	168	0	ENST00000439458.1:c.2732G>T	p.Arg911Leu	p.R911L	ENST00000439458	NM_032504.1	911	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS46504.1	2732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACGCTGCG	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	16/64	.	.	.	.	.	.	.	.	COSM1231821	16/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	.	1	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Arg911Leu,ENST00000439458,;UNC80,missense_variant,p.Arg906Leu,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	2812	168	192	SUCCESS
MAP4K3	8491	.	GRCh37	2	39481600	39481600	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1388854176	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	83	0	ENST00000263881.3:c.2532A>T	p.Arg844Ser	p.R844S	ENST00000263881	NM_003618.3	844	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS1803.1	2532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGATCTAAA	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,Pfam_domain:PF00780,SMART_domains:SM00036,PIRSF_domain:PIRSF038172	.	.	ENSP00000263881	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000263881	Transcript	.	.	ENSG00000011566	6865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	.	tolerated(0.12)	.	M4K3_HUMAN	MAP4K3	HGNC	Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN	.	UPI00000747E6	SNV	MAP4K3,missense_variant,p.Arg760Ser,ENST00000437545,;MAP4K3,missense_variant,p.Arg844Ser,ENST00000263881,;MAP4K3,missense_variant,p.Arg397Ser,ENST00000536018,;MAP4K3,missense_variant,p.Arg823Ser,ENST00000341681,;MAP4K3,downstream_gene_variant,,ENST00000479708,;	2857	83	83	SUCCESS
ABCG5	64240	.	GRCh37	2	44055288	44055288	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	35	0	ENST00000260645.1:c.502-34C>A		p.*168*	ENST00000260645	NM_022436.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1814.1	.	RADIA|MUSE|VARSCANS	.	TGGGAGTCTCT	NONE	.	.	.	.	.	ENSP00000260645	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260645	Transcript	.	.	ENSG00000138075	13886	.	.	MODIFIER	4/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCG5_HUMAN	ABCG5	HGNC	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN	.	UPI0000046560	SNV	ABCG5,5_prime_UTR_variant,,ENST00000543989,;ABCG5,intron_variant,,ENST00000405322,;ABCG5,intron_variant,,ENST00000260645,;ABCG5,3_prime_UTR_variant,,ENST00000486512,;ABCG5,intron_variant,,ENST00000409962,;	.	35	35	SUCCESS
ALMS1	7840	.	GRCh37	2	73799982	73799982	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	35	90	0	ENST00000264448.6:c.10975G>A	p.Val3659Met	p.V3659M	ENST00000264448	NM_015120.4	3659	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS42697.1	10975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGTGAAG	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Val3617Met,ENST00000409009,;ALMS1,missense_variant,p.Val3659Met,ENST00000264448,;ALMS1,3_prime_UTR_variant,,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	11086	90	138	SUCCESS
AUP1	550	.	GRCh37	2	74754660	74754660	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	54	0	ENST00000377526.3:c.899T>A	p.Leu300Gln	p.L300Q	ENST00000377526	NM_181575.3	300	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS42702.1	899	MUTECT|MUSE	.	GAGCCAGAGTT	NONE	.	.	PROSITE_profiles:PS51140,hmmpanther:PTHR15486,SMART_domains:SM00546	.	.	ENSP00000366748	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000377526	Transcript	.	.	ENSG00000115307	891	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	AUP1_HUMAN	AUP1	HGNC	.	.	UPI000000163A	SNV	AUP1,missense_variant,p.Leu300Gln,ENST00000377526,;HTRA2,upstream_gene_variant,,ENST00000352222,;HTRA2,upstream_gene_variant,,ENST00000258080,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;HTRA2,upstream_gene_variant,,ENST00000437202,;LOXL3,downstream_gene_variant,,ENST00000264094,;DQX1,upstream_gene_variant,,ENST00000451518,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;HTRA2,upstream_gene_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000495597,;AUP1,missense_variant,p.Leu300Gln,ENST00000425118,;AUP1,non_coding_transcript_exon_variant,,ENST00000463900,;AUP1,non_coding_transcript_exon_variant,,ENST00000486234,;AUP1,non_coding_transcript_exon_variant,,ENST00000462297,;AUP1,non_coding_transcript_exon_variant,,ENST00000466894,;HTRA2,upstream_gene_variant,,ENST00000484352,;HTRA2,upstream_gene_variant,,ENST00000465521,;DQX1,upstream_gene_variant,,ENST00000483555,;DQX1,upstream_gene_variant,,ENST00000473508,;LOXL3,downstream_gene_variant,,ENST00000470907,;HTRA2,upstream_gene_variant,,ENST00000482205,;DQX1,upstream_gene_variant,,ENST00000418139,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,downstream_gene_variant,,ENST00000464887,;AUP1,downstream_gene_variant,,ENST00000472800,;	1209	54	78	SUCCESS
CEP70	80321	.	GRCh37	3	138289885	138289885	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	56	173	0	ENST00000264982.3:c.275A>G	p.Gln92Arg	p.Q92R	ENST00000264982	NM_024491.2	92	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3102.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTTGATTA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594	.	.	ENSP00000264982	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000264982	Transcript	.	.	ENSG00000114107	29972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.234)	.	tolerated(0.76)	.	CEP70_HUMAN	CEP70	HGNC	C9JZ04_HUMAN,C9J0F4_HUMAN	.	UPI000013D5A3	SNV	CEP70,missense_variant,p.Gln74Arg,ENST00000474781,;CEP70,missense_variant,p.Gln71Arg,ENST00000468900,;CEP70,missense_variant,p.Gln72Arg,ENST00000462419,;CEP70,missense_variant,p.Gln92Arg,ENST00000481834,;CEP70,missense_variant,p.Gln92Arg,ENST00000470159,;CEP70,missense_variant,p.Gln72Arg,ENST00000542237,;CEP70,missense_variant,p.Gln92Arg,ENST00000464035,;CEP70,missense_variant,p.Gln92Arg,ENST00000484888,;CEP70,missense_variant,p.Gln92Arg,ENST00000264982,;CEP70,intron_variant,,ENST00000489254,;CEP70,downstream_gene_variant,,ENST00000485115,;CEP70,non_coding_transcript_exon_variant,,ENST00000478673,;	542	173	198	SUCCESS
C3orf72	0	.	GRCh37	3	138669208	138669208	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530645680	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	48	0	ENST00000383165.3:c.322G>A	p.Ala108Thr	p.A108T	ENST00000383165	NM_001040061.2	108	Gct/Act	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS43155.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGCTTCG	NONE	by1000G	.	.	A:0	.	ENSP00000372651	A:0	3/3	.	.	.	.	.	.	.	.	rs530645680	3/3	PASS	ENST00000383165	Transcript	.	A:0.0002	ENSG00000206262	34428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	A:0.001	deleterious_low_confidence(0.04)	.	CC072_HUMAN	C3orf72	HGNC	.	.	UPI00001C0AE3	SNV	C3orf72,missense_variant,p.Ala108Thr,ENST00000383165,;FOXL2,upstream_gene_variant,,ENST00000330315,;C3orf72,3_prime_UTR_variant,,ENST00000470680,;C3orf72,non_coding_transcript_exon_variant,,ENST00000498709,;	453	48	70	SUCCESS
CCDC13	152206	.	GRCh37	3	42777365	42777383	+	frameshift_variant	Frame_Shift_Del	DEL	CTCAGGCTGCCTAGGATCT	CTCAGGCTGCCTAGGATCT	-	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	CTCAGGCTGCCTAGGATCT	CTCAGGCTGCCTAGGATCT	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	42	0	ENST00000310232.6:c.1187_1205del	p.Glu396ValfsTer18	p.E396Vfs*18	ENST00000310232	NM_144719.3	396	gAGATCCTAGGCAGCCTGAGt/gt	0	.	.	.	.	.	-	EILGSLS/X	protein_coding	YES	CCDS2705.1	1187-1205	VARSCANI*|PINDEL	.	TGCAGACTCAGGCTGCCTAGGATCTCCTGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	deletion	CCDC13,frameshift_variant,p.Glu396ValfsTer18,ENST00000310232,;CCDC13-AS1,intron_variant,,ENST00000446950,;CCDC13-AS1,intron_variant,,ENST00000418161,;CCDC13,upstream_gene_variant,,ENST00000472921,;CCDC13,upstream_gene_variant,,ENST00000496027,;	1271-1289	42	65	SUCCESS
NDST4	64579	.	GRCh37	4	115773896	115773896	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	36	124	0	ENST00000264363.2:c.1801G>C	p.Gly601Arg	p.G601R	ENST00000264363	NM_022569.1	601	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS3706.1	1801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCAATTA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	.	.	ENSP00000264363	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000264363	Transcript	.	.	ENSG00000138653	20779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NDST4_HUMAN	NDST4	HGNC	.	.	UPI000006CED7	SNV	NDST4,missense_variant,p.Gly601Arg,ENST00000264363,;NDST4,missense_variant,p.Gly222Arg,ENST00000504854,;	2480	124	125	SUCCESS
FRAS1	80144	.	GRCh37	4	79229242	79229242	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	35	112	0	ENST00000264895.6:c.1557T>C	p.Gly519=	p.G519=	ENST00000264895	NM_025074.6	519	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS54771.1	1557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTTGCTG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184	.	.	ENSP00000264895	.	15/74	.	.	.	.	.	.	.	.	.	15/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,synonymous_variant,p.%3D,ENST00000502446,;FRAS1,synonymous_variant,p.%3D,ENST00000325942,;FRAS1,synonymous_variant,p.%3D,ENST00000264899,;FRAS1,synonymous_variant,p.%3D,ENST00000264895,;FRAS1,synonymous_variant,p.%3D,ENST00000508900,;	1997	113	120	SUCCESS
PTPN13	5783	.	GRCh37	4	87701601	87701601	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1480125548	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	67	0	ENST00000411767.2:c.5938G>A	p.Ala1980Thr	p.A1980T	ENST00000411767		1980	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47093.1	5953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGCTCCA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	36/48	.	.	.	.	.	.	.	.	.	36/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.45)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Ala1980Thr,ENST00000411767,;PTPN13,missense_variant,p.Ala1985Thr,ENST00000436978,;PTPN13,missense_variant,p.Ala1789Thr,ENST00000316707,;PTPN13,missense_variant,p.Ala1985Thr,ENST00000511467,;PTPN13,missense_variant,p.Ala1961Thr,ENST00000427191,;	6433	67	79	SUCCESS
PHAX	51808	.	GRCh37	5	125944167	125944167	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	52	0	ENST00000297540.4:c.822C>A	p.Leu274=	p.L274=	ENST00000297540	NM_032177.3	274	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4138.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCTTTAT	NONE	.	.	hmmpanther:PTHR13135,Pfam_domain:PF10258	.	.	ENSP00000297540	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000297540	Transcript	.	.	ENSG00000164902	10241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHAX_HUMAN	PHAX	HGNC	.	.	UPI000006DD37	SNV	PHAX,synonymous_variant,p.%3D,ENST00000297540,;PHAX,downstream_gene_variant,,ENST00000514725,;PHAX,non_coding_transcript_exon_variant,,ENST00000505674,;PHAX,non_coding_transcript_exon_variant,,ENST00000511371,;	1517	52	77	SUCCESS
SLC27A6	28965	.	GRCh37	5	128364118	128364118	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	63	0	ENST00000262462.4:c.1535A>T	p.Tyr512Phe	p.Y512F	ENST00000262462		512	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS4145.1	1535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTATGGTG	NONE	.	.	hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Pfam_domain:PF13193,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	.	.	ENSP00000262462	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,missense_variant,p.Tyr512Phe,ENST00000506176,;SLC27A6,missense_variant,p.Tyr512Phe,ENST00000395266,;SLC27A6,missense_variant,p.Tyr512Phe,ENST00000262462,;	2545	63	65	SUCCESS
PCDHA12	56137	.	GRCh37	5	140255085	140255085	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	44	0	ENST00000398631.2:c.28G>C	p.Gly10Arg	p.G10R	ENST00000398631	NM_018903.2	10	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS47285.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGGATCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.07)	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,missense_variant,p.Gly10Arg,ENST00000398631,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	28	44	83	SUCCESS
EBF1	1879	.	GRCh37	5	158158157	158158157	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	49	0	ENST00000313708.6:c.1045G>C	p.Glu349Gln	p.E349Q	ENST00000313708	NM_024007.3	349	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS4343.1	1045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTCGTTGA	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	11/16	.	.	.	.	.	.	.	.	COSM3247064	11/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.797)	.	deleterious(0.03)	1	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,missense_variant,p.Glu318Gln,ENST00000380654,;EBF1,missense_variant,p.Glu349Gln,ENST00000313708,;EBF1,missense_variant,p.Glu341Gln,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000523464,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;	1328	49	75	SUCCESS
IRX1	79192	.	GRCh37	5	3599546	3599546	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	40	114	0	ENST00000302006.3:c.484A>G	p.Met162Val	p.M162V	ENST00000302006	NM_024337.3	162	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34132.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCATGCTG	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF05920,hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,PROSITE_profiles:PS50071	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.59)	.	deleterious(0)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Met162Val,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	536	114	109	SUCCESS
RANBP3L	202151	.	GRCh37	5	36253830	36253830	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	34	103	0	ENST00000296604.3:c.1086G>T	p.Lys362Asn	p.K362N	ENST00000296604	NM_145000.3	362	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS54843.1	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCTTCAT	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138:SF88,hmmpanther:PTHR23138,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000421853	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000502994	Transcript	.	.	ENSG00000164188	26353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	tolerated(0.46)	.	RNB3L_HUMAN	RANBP3L	HGNC	.	.	UPI0001A5C4B2	SNV	RANBP3L,missense_variant,p.Lys362Asn,ENST00000296604,;RANBP3L,missense_variant,p.Lys387Asn,ENST00000502994,;RANBP3L,downstream_gene_variant,,ENST00000515759,;	1645	103	127	SUCCESS
LNPEP	4012	.	GRCh37	5	96350727	96350727	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	103	0	ENST00000231368.5:c.2304C>T	p.Ala768=	p.A768=	ENST00000231368	NM_005575.2	768	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4087.1	2304	MUTECT|MUSE|VARSCANS	.	GAAGCCCTGTT	NONE	.	.	Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	.	.	ENSP00000231368	.	13/18	.	.	.	.	.	.	.	.	COSM1496154	13/18	PASS	ENST00000231368	Transcript	.	.	ENSG00000113441	6656	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	LCAP_HUMAN	LNPEP	HGNC	.	.	UPI000013C94B	SNV	LNPEP,synonymous_variant,p.%3D,ENST00000395770,;LNPEP,synonymous_variant,p.%3D,ENST00000231368,;	2996	103	138	SUCCESS
ATP6V1G2	534	.	GRCh37	6	31514353	31514353	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs746377626	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	27	0	ENST00000303892.5:c.-17C>A		p.*6*	ENST00000303892	NM_138282.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4698.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGATGCT	NONE	byFrequency	.	.	.	.	ENSP00000302194	.	1/3	.	.	.	.	.	.	.	.	rs746377626	1/3	PASS	ENST00000303892	Transcript	.	.	ENSG00000213760	862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VATG2_HUMAN	ATP6V1G2	HGNC	.	.	UPI000000DD4A	SNV	ATP6V1G2,5_prime_UTR_variant,,ENST00000303892,;ATP6V1G2,5_prime_UTR_variant,,ENST00000376151,;ATP6V1G2,intron_variant,,ENST00000415099,;ATP6V1G2,intron_variant,,ENST00000483251,;DDX39B,upstream_gene_variant,,ENST00000417556,;DDX39B,upstream_gene_variant,,ENST00000456976,;DDX39B,upstream_gene_variant,,ENST00000431908,;DDX39B,upstream_gene_variant,,ENST00000456662,;DDX39B,upstream_gene_variant,,ENST00000396172,;DDX39B,upstream_gene_variant,,ENST00000449757,;DDX39B,upstream_gene_variant,,ENST00000415382,;DDX39B,upstream_gene_variant,,ENST00000458640,;NFKBIL1,upstream_gene_variant,,ENST00000376145,;DDX39B,upstream_gene_variant,,ENST00000449074,;NFKBIL1,upstream_gene_variant,,ENST00000376148,;DDX39B,upstream_gene_variant,,ENST00000419020,;DDX39B,upstream_gene_variant,,ENST00000453105,;NFKBIL1,upstream_gene_variant,,ENST00000376146,;DDX39B,upstream_gene_variant,,ENST00000428450,;DDX39B,upstream_gene_variant,,ENST00000418897,;DDX39B,upstream_gene_variant,,ENST00000428098,;DDX39B-AS1,downstream_gene_variant,,ENST00000420520,;DDX39B-AS1,downstream_gene_variant,,ENST00000416684,;ATP6V1G2-DDX39B,non_coding_transcript_exon_variant,,ENST00000475917,;ATP6V1G2,intron_variant,,ENST00000483170,;ATP6V1G2-DDX39B,5_prime_UTR_variant,,ENST00000376185,;ATP6V1G2-DDX39B,5_prime_UTR_variant,,ENST00000480131,;ATP6V1G2,non_coding_transcript_exon_variant,,ENST00000481998,;DDX39B,upstream_gene_variant,,ENST00000481456,;DDX39B,upstream_gene_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000462256,;NFKBIL1,upstream_gene_variant,,ENST00000473655,;NFKBIL1,upstream_gene_variant,,ENST00000496233,;	269	27	33	SUCCESS
PRRT1	80863	.	GRCh37	6	32117487	32117487	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	26	0	ENST00000211413.5:c.571G>A	p.Gly191Arg	p.G191R	ENST00000211413	NM_030651.3	191	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4739.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCCGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF4	.	.	ENSP00000211413	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000211413	Transcript	.	.	ENSG00000204314	13943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.36)	.	PRRT1_HUMAN	PRRT1	HGNC	.	.	UPI000012FFED	SNV	PRRT1,missense_variant,p.Gly191Arg,ENST00000211413,;PRRT1,missense_variant,p.Gly110Arg,ENST00000375150,;PRRT1,missense_variant,p.Gly110Arg,ENST00000375152,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000324816,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PPT2,upstream_gene_variant,,ENST00000361568,;PRRT1,downstream_gene_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000445576,;PPT2,upstream_gene_variant,,ENST00000437001,;PRRT1,non_coding_transcript_exon_variant,,ENST00000467780,;PRRT1,non_coding_transcript_exon_variant,,ENST00000472641,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,downstream_gene_variant,,ENST00000485392,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000494332,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,downstream_gene_variant,,ENST00000486917,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2,upstream_gene_variant,,ENST00000436118,;	696	26	29	SUCCESS
SLC29A1	2030	.	GRCh37	6	44197695	44197695	+	synonymous_variant	Silent	SNP	G	G	T	rs760426338	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	53	0	ENST00000371708.1:c.366G>T	p.Val122=	p.V122=	ENST00000371708		122	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4908.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGTTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF9,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473	.	.	ENSP00000377424	.	6/14	.	.	.	.	.	.	.	.	rs760426338	6/14	PASS	ENST00000393841	Transcript	.	.	ENSG00000112759	11003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S29A1_HUMAN	SLC29A1	HGNC	C8KHU2_HUMAN,C8KHU1_HUMAN	.	UPI0000001BCC	SNV	SLC29A1,synonymous_variant,p.%3D,ENST00000371740,;SLC29A1,synonymous_variant,p.%3D,ENST00000371731,;SLC29A1,synonymous_variant,p.%3D,ENST00000313248,;SLC29A1,synonymous_variant,p.%3D,ENST00000371713,;SLC29A1,synonymous_variant,p.%3D,ENST00000371755,;SLC29A1,synonymous_variant,p.%3D,ENST00000393844,;SLC29A1,synonymous_variant,p.%3D,ENST00000371724,;SLC29A1,synonymous_variant,p.%3D,ENST00000393841,;SLC29A1,synonymous_variant,p.%3D,ENST00000427851,;SLC29A1,synonymous_variant,p.%3D,ENST00000371708,;SLC29A1,non_coding_transcript_exon_variant,,ENST00000472176,;	857	53	60	SUCCESS
EYS	346007	.	GRCh37	6	65301374	65301374	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	75	0	ENST00000370616.2:c.4386T>C	p.Ser1462=	p.S1462=	ENST00000370616		1462	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47445.1	4386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTAGAGAC	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,synonymous_variant,p.%3D,ENST00000370616,;EYS,synonymous_variant,p.%3D,ENST00000370621,;EYS,synonymous_variant,p.%3D,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000330816,;	4924	75	75	SUCCESS
FILIP1	27145	.	GRCh37	6	76124503	76124503	+	synonymous_variant	Silent	SNP	A	A	T	rs554060815	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	64	206	0	ENST00000237172.7:c.186T>A	p.Ser62=	p.S62=	ENST00000237172	NM_015687.2	62	tcT/tcA	0	.	G:0	.	G:0	.	T	S	protein_coding	YES	CCDS4984.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAGATGT	NONE	by1000G	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	G:0	.	ENSP00000237172	G:0	2/6	.	.	.	.	.	.	.	.	rs554060815	2/6	PASS	ENST00000237172	Transcript	.	G:0.0002	ENSG00000118407	21015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,synonymous_variant,p.%3D,ENST00000393004,;FILIP1,synonymous_variant,p.%3D,ENST00000237172,;	517	206	230	SUCCESS
SCIN	85477	.	GRCh37	7	12610490	12610490	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	80	0	ENST00000297029.5:c.78G>A	p.Lys26=	p.K26=	ENST00000297029	NM_001112706.2	26	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS47545.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGCTGGA	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753	.	.	ENSP00000297029	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000297029	Transcript	.	.	ENSG00000006747	21695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADSV_HUMAN	SCIN	HGNC	Q8NBV9_HUMAN,Q75MG0_HUMAN	.	UPI000013C4DF	SNV	SCIN,synonymous_variant,p.%3D,ENST00000417018,;SCIN,synonymous_variant,p.%3D,ENST00000297029,;AC005281.2,intron_variant,,ENST00000433040,;SCIN,synonymous_variant,p.%3D,ENST00000436854,;SCIN,synonymous_variant,p.%3D,ENST00000341757,;	179	80	64	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138761070	138761070	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	83	0	ENST00000242351.5:c.1659G>A	p.Glu553=	p.E553=	ENST00000242351	NM_020119.3	553	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS5851.1	1659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGTCTCCAT	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,synonymous_variant,p.%3D,ENST00000471652,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000464606,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000460845,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000242351,;	1976	83	90	SUCCESS
TBXAS1	6916	.	GRCh37	7	139653169	139653169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs756857897	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	43	0	ENST00000336425.5:c.453G>T	p.Met151Ile	p.M151I	ENST00000336425		151	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS55174.1	594	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATGGTTCC	NONE	.	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24301:SF2,hmmpanther:PTHR24301	.	.	ENSP00000389414	.	7/14	.	.	.	.	.	.	.	.	rs756857897,COSM1288380,COSM1288379	7/14	PASS	ENST00000416849	Transcript	.	.	ENSG00000059377	11609	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.706)	.	deleterious(0)	0,1,1	.	TBXAS1	HGNC	F8WD37_HUMAN,E7EP08_HUMAN,C9JS68_HUMAN,C9J8N6_HUMAN	.	UPI0001AE7134	SNV	TBXAS1,missense_variant,p.Met152Ile,ENST00000436047,;TBXAS1,missense_variant,p.Met152Ile,ENST00000414508,;TBXAS1,missense_variant,p.Met151Ile,ENST00000411653,;TBXAS1,missense_variant,p.Met197Ile,ENST00000458722,;TBXAS1,missense_variant,p.Met84Ile,ENST00000425687,;TBXAS1,missense_variant,p.Met151Ile,ENST00000448866,;TBXAS1,missense_variant,p.Met152Ile,ENST00000263552,;TBXAS1,missense_variant,p.Met151Ile,ENST00000336425,;TBXAS1,missense_variant,p.Met198Ile,ENST00000416849,;TBXAS1,splice_region_variant,,ENST00000462275,;TBXAS1,splice_region_variant,,ENST00000476637,;TBXAS1,splice_region_variant,,ENST00000422328,;TBXAS1,upstream_gene_variant,,ENST00000494876,;TBXAS1,upstream_gene_variant,,ENST00000469630,;	829	43	47	SUCCESS
TAS2R5	54429	.	GRCh37	7	141490117	141490117	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	40	0	ENST00000247883.4:c.-45G>T		p.*15*	ENST00000247883	NM_018980.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5869.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGATCTG	NONE	.	.	.	.	.	ENSP00000247883	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247883	Transcript	.	.	ENSG00000127366	14912	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TA2R5_HUMAN	TAS2R5	HGNC	A4D1U0_HUMAN,Q50KW4_HUMAN	.	UPI0000038B0D	SNV	TAS2R5,5_prime_UTR_variant,,ENST00000247883,;SSBP1,downstream_gene_variant,,ENST00000465582,;TAS2R6,downstream_gene_variant,,ENST00000605022,;	101	40	45	SUCCESS
SP4	6671	.	GRCh37	7	21521737	21521737	+	synonymous_variant	Silent	SNP	T	T	C	rs1268415400	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	129	0	ENST00000222584.3:c.2103T>C	p.His701=	p.H701=	ENST00000222584	NM_003112.3	701	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS5373.1	2103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCATACAGG	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23235:SF5,hmmpanther:PTHR23235,PROSITE_profiles:PS50157	.	.	ENSP00000222584	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000222584	Transcript	.	.	ENSG00000105866	11209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP4_HUMAN	SP4	HGNC	Q32M51_HUMAN	.	UPI000013C807	SNV	SP4,synonymous_variant,p.%3D,ENST00000222584,;SP4,downstream_gene_variant,,ENST00000432066,;SP4,3_prime_UTR_variant,,ENST00000448246,;	2321	129	146	SUCCESS
AC005013.1	0	.	GRCh37	7	28995704	28995704	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	10	0	ENST00000539664.1:n.2320G>A		p.*774*	ENST00000539664				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|MUTECT|MUSE	.	GTGTCCCCGCG	NONE	.	1579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436594	Transcript	.	.	ENSG00000228421	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC005013.5	Clone_based_vega_gene	.	.	.	SNV	AC005013.5,upstream_gene_variant,,ENST00000436594,;TRIL,non_coding_transcript_exon_variant,,ENST00000322982,;AC005013.1,non_coding_transcript_exon_variant,,ENST00000539664,;	.	10	14	SUCCESS
CROT	54677	.	GRCh37	7	86986879	86986879	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	25	0	ENST00000331536.3:c.116-1643T>C		p.*39*	ENST00000331536	NM_021151.3	58		0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47634.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTTGGAT	NONE	.	.	hmmpanther:PTHR22589:SF8,hmmpanther:PTHR22589	.	.	ENSP00000413575	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000419147	Transcript	.	.	ENSG00000005469	2366	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OCTC_HUMAN	CROT	HGNC	B4DT97_HUMAN	.	UPI000020F4C5	SNV	CROT,synonymous_variant,p.%3D,ENST00000419147,;CROT,intron_variant,,ENST00000331536,;CROT,intron_variant,,ENST00000442291,;CROT,intron_variant,,ENST00000412227,;CROT,upstream_gene_variant,,ENST00000488850,;	371	25	30	SUCCESS
GET4	51608	.	GRCh37	7	930603	930603	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	51	135	0	ENST00000265857.3:c.505T>G	p.Ser169Ala	p.S169A	ENST00000265857	NM_015949.2	169	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS5317.1	505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACTCAGCG	NONE	.	.	Pfam_domain:PF04190,hmmpanther:PTHR12875:SF0,hmmpanther:PTHR12875	.	.	ENSP00000265857	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000265857	Transcript	.	.	ENSG00000239857	21690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.479)	.	deleterious(0.02)	.	GET4_HUMAN	GET4	HGNC	C9JPA8_HUMAN	.	UPI00001AE543	SNV	GET4,missense_variant,p.Ser116Ala,ENST00000412734,;GET4,missense_variant,p.Ser130Ala,ENST00000426056,;GET4,missense_variant,p.Ser116Ala,ENST00000407192,;GET4,missense_variant,p.Ser169Ala,ENST00000265857,;GET4,downstream_gene_variant,,ENST00000441491,;RP11-449P15.2,upstream_gene_variant,,ENST00000609998,;SUN1,3_prime_UTR_variant,,ENST00000457861,;GET4,non_coding_transcript_exon_variant,,ENST00000483469,;GET4,upstream_gene_variant,,ENST00000464468,;	599	135	170	SUCCESS
POU5F1B	5462	.	GRCh37	8	128428642	128428642	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	56	0	ENST00000465342.2:c.531G>A	p.Lys177=	p.K177=	ENST00000465342		177	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS55274.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAGGTGTT	NONE	.	.	Superfamily_domains:SSF47413,SMART_domains:SM00352,Gene3D:1.10.260.40,Pfam_domain:PF00157,hmmpanther:PTHR11636:SF15,hmmpanther:PTHR11636,PROSITE_profiles:PS51179	.	.	ENSP00000419298	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000465342	Transcript	.	.	ENSG00000212993	9223	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P5F1B_HUMAN	POU5F1B	HGNC	D5K9T1_HUMAN	.	UPI000013F18B	SNV	POU5F1B,synonymous_variant,p.%3D,ENST00000465342,;POU5F1B,synonymous_variant,p.%3D,ENST00000391675,;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	1688	56	67	SUCCESS
FAM135B	51059	.	GRCh37	8	139164944	139164944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	70	0	ENST00000395297.1:c.1774C>A	p.Leu592Ile	p.L592I	ENST00000395297	NM_015912.3	592	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS6375.2	1774	MUTECT|MUSE	.	GCTTAGCCCAG	NONE	.	.	hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482	.	.	ENSP00000378710	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000395297	Transcript	.	.	ENSG00000147724	28029	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.51)	.	F135B_HUMAN	FAM135B	HGNC	J3QSR3_HUMAN	.	UPI000057A0DB	SNV	FAM135B,missense_variant,p.Leu592Ile,ENST00000395297,;FAM135B,missense_variant,p.Leu592Ile,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;FAM135B,upstream_gene_variant,,ENST00000467365,;	1945	70	69	SUCCESS
ST18	9705	.	GRCh37	8	53084937	53084937	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs147121734	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	40	105	0	ENST00000276480.7:c.484G>T	p.Asp162Tyr	p.D162Y	ENST00000276480	NM_014682.2	162	Gat/Tat	0	.	T:0	.	T:0	.	A	D/Y	protein_coding	YES	CCDS6149.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCGCTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	T:0	.	ENSP00000276480	T:0.001	10/26	.	.	.	.	.	.	.	.	rs147121734,COSM3649666	10/26	PASS	ENST00000276480	Transcript	.	T:0.0002	ENSG00000147488	18695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.848)	T:0	deleterious(0)	0,1	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,missense_variant,p.Asp162Tyr,ENST00000517580,;ST18,missense_variant,p.Asp162Tyr,ENST00000276480,;ST18,downstream_gene_variant,,ENST00000520257,;ST18,missense_variant,p.Asp162Tyr,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;	1168	105	140	SUCCESS
PRPF4	9128	.	GRCh37	9	116045492	116045492	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	131	0	ENST00000374198.4:c.563+1G>T		p.X188_splice	ENST00000374198	NM_001244926.1	188		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6791.1	.	MUTECT|MUSE	.	CCCAGGTAAAG	NONE	.	.	.	.	.	ENSP00000363313	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374198	Transcript	.	.	ENSG00000136875	17349	.	.	HIGH	5/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRP4_HUMAN	PRPF4	HGNC	.	.	UPI0000132340	SNV	PRPF4,splice_donor_variant,,ENST00000374198,;PRPF4,splice_donor_variant,,ENST00000374199,;PRPF4,downstream_gene_variant,,ENST00000488937,;	.	131	123	SUCCESS
ZER1	10444	.	GRCh37	9	131515868	131515868	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	38	0	ENST00000291900.2:c.321G>A	p.Glu107=	p.E107=	ENST00000291900	NM_006336.3	107	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS6910.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCTCCAC	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR12904:SF22,hmmpanther:PTHR12904	.	.	ENSP00000291900	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000291900	Transcript	.	.	ENSG00000160445	30960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZER1_HUMAN	ZER1	HGNC	Q05BR7_HUMAN	.	UPI000013E085	SNV	ZER1,synonymous_variant,p.%3D,ENST00000414921,;ZER1,synonymous_variant,p.%3D,ENST00000291900,;ZER1,downstream_gene_variant,,ENST00000427848,;snoU13,downstream_gene_variant,,ENST00000459043,;ZER1,non_coding_transcript_exon_variant,,ENST00000494461,;	728	38	34	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43625397	43625397	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766852910	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	60	185	0	ENST00000332857.6:c.3290G>A	p.Arg1097Lys	p.R1097K	ENST00000332857	NM_001145196.1	1097	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS47973.1	3290	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCTTTGG	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000329825	.	4/4	.	.	.	.	.	.	.	.	rs766852910	4/4	PASS	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	deleterious(0.03)	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,missense_variant,p.Arg1097Lys,ENST00000332857,;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	3319	185	209	SUCCESS
PDCD1LG2	80380	.	GRCh37	9	5534923	5534923	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	70	1	ENST00000397747.3:c.234G>T	p.Glu78Asp	p.E78D	ENST00000397747	NM_025239.3	78	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6465.1	234	MUTECT|MUSE	.	GAGGAGCAGCT	NONE	.	.	hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF56,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000380855	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000397747	Transcript	.	.	ENSG00000197646	18731	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(0.25)	.	PD1L2_HUMAN	PDCD1LG2	HGNC	.	.	UPI0000050EF2	SNV	PDCD1LG2,missense_variant,p.Glu78Asp,ENST00000397747,;PDCD1LG2,missense_variant,p.Glu78Asp,ENST00000397745,;	482	71	78	SUCCESS
COL4A6	1288	.	GRCh37	X	107402853	107402853	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201417622	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	96	188	2	ENST00000372216.4:c.4654C>A	p.Pro1552Thr	p.P1552T	ENST00000372216	NM_001847.2	1552	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14541.1	4654	RADIA|SOMATICSNIPER|VARSCANS	.	CATGGGGATAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51403,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164,Gene3D:1t60D00,Pfam_domain:PF01413,SMART_domains:SM00111,Superfamily_domains:SSF56436	.	.	ENSP00000361290	.	44/45	.	.	.	.	.	.	.	.	rs201417622,COSM1569779	44/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.005)	.	.	0,1	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,missense_variant,p.Pro1552Thr,ENST00000372216,;COL4A6,missense_variant,p.Pro1494Thr,ENST00000538570,;COL4A6,missense_variant,p.Pro1552Thr,ENST00000394872,;COL4A6,missense_variant,p.Pro86Thr,ENST00000418180,;COL4A6,missense_variant,p.Pro1551Thr,ENST00000334504,;COL4A6,missense_variant,p.Pro1527Thr,ENST00000545689,;ATG4A,downstream_gene_variant,,ENST00000372254,;ATG4A,downstream_gene_variant,,ENST00000372232,;ATG4A,downstream_gene_variant,,ENST00000345734,;COL4A6,downstream_gene_variant,,ENST00000487645,;ATG4A,downstream_gene_variant,,ENST00000372246,;ATG4A,downstream_gene_variant,,ENST00000343524,;	4755	190	237	SUCCESS
GPR101	83550	.	GRCh37	X	136113472	136113472	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	38	0	ENST00000298110.1:c.362C>A	p.Thr121Asn	p.T121N	ENST00000298110	NM_054021.1	121	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS14662.1	362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGGTGTTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	.	.	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.12)	.	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	SNV	GPR101,missense_variant,p.Thr121Asn,ENST00000298110,;	362	38	67	SUCCESS
TKTL1	8277	.	GRCh37	X	153556013	153556013	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	55	192	0	ENST00000369915.3:c.1478C>T	p.Ala493Val	p.A493V	ENST00000369915	NM_012253.3	493	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS35448.1	1478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCTGATG	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF53,Pfam_domain:PF02780,Gene3D:3.40.50.920,Superfamily_domains:SSF52922	.	.	ENSP00000358931	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000369915	Transcript	.	.	ENSG00000007350	11835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.6)	.	deleterious(0.01)	.	TKTL1_HUMAN	TKTL1	HGNC	Q5TYJ8_HUMAN,B7Z7I0_HUMAN	.	UPI0000211D08	SNV	TKTL1,missense_variant,p.Ala233Val,ENST00000217905,;TKTL1,missense_variant,p.Ala437Val,ENST00000369912,;TKTL1,missense_variant,p.Ala493Val,ENST00000369915,;TKTL1,non_coding_transcript_exon_variant,,ENST00000482044,;TKTL1,non_coding_transcript_exon_variant,,ENST00000463884,;TKTL1,downstream_gene_variant,,ENST00000465168,;	1667	193	200	SUCCESS
AP1S2	8905	.	GRCh37	X	15849482	15849483	+	intron_variant	Intron	DEL	AG	AG	-	rs757848748	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	32	0	ENST00000329235.2:c.427-3988_427-3987del		p.*143*	ENST00000329235	NM_003916.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14173.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAAACAGAAAAG	NONE	.	.	.	.	.	ENSP00000328789	.	.	.	.	.	.	.	.	.	.	rs757848748	.	PASS	ENST00000329235	Transcript	.	.	ENSG00000182287	560	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP1S2_HUMAN	AP1S2	HGNC	Q549M9_HUMAN	.	UPI0000124FEC	deletion	AP1S2,3_prime_UTR_variant,,ENST00000380291,;AP1S2,3_prime_UTR_variant,,ENST00000545766,;AP1S2,intron_variant,,ENST00000452376,;AP1S2,intron_variant,,ENST00000329235,;AP1S2,downstream_gene_variant,,ENST00000421527,;AP1S2,downstream_gene_variant,,ENST00000450644,;AP1S2,non_coding_transcript_exon_variant,,ENST00000479184,;	.	32	36	SUCCESS
CXorf38	159013	.	GRCh37	X	40498275	40498275	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	81	0	ENST00000327877.5:c.457A>C	p.Lys153Gln	p.K153Q	ENST00000327877	NM_144970.2	153	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS14253.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTTTCGAT	NONE	.	.	Pfam_domain:PF15112	.	.	ENSP00000330488	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000327877	Transcript	.	.	ENSG00000185753	28589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	tolerated(0.09)	.	CX038_HUMAN	CXorf38	HGNC	.	.	UPI000007293E	SNV	CXorf38,missense_variant,p.Lys34Gln,ENST00000378426,;CXorf38,missense_variant,p.Lys153Gln,ENST00000327877,;CXorf38,missense_variant,p.Lys34Gln,ENST00000378421,;CXorf38,intron_variant,,ENST00000440784,;CXorf38,downstream_gene_variant,,ENST00000378418,;	484	81	105	SUCCESS
CXorf36	0	.	GRCh37	X	45011086	45011086	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	48	147	0	ENST00000398000.2:c.1113G>A	p.Gln371=	p.Q371=	ENST00000398000	NM_176819.3	371	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS48096.1	1113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCTGGAG	NONE	.	.	hmmpanther:PTHR32073:SF8,hmmpanther:PTHR32073,Pfam_domain:PF12260	.	.	ENSP00000381086	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	SNV	CXorf36,synonymous_variant,p.%3D,ENST00000398000,;CXorf36,non_coding_transcript_exon_variant,,ENST00000477281,;	1188	147	138	SUCCESS
HUWE1	10075	.	GRCh37	X	53577955	53577955	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	5	122	0	ENST00000262854.6:c.9292C>A	p.Arg3098=	p.R3098=	ENST00000262854	NM_031407.5	3098	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS35301.1	9292	MUTECT|MUSE	.	CTCTCGTCTCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	64/83	.	.	.	.	.	.	.	.	.	64/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;HUWE1,synonymous_variant,p.%3D,ENST00000427052,;HUWE1,upstream_gene_variant,,ENST00000426907,;HUWE1,upstream_gene_variant,,ENST00000474288,;HUWE1,upstream_gene_variant,,ENST00000468322,;	9750	122	124	SUCCESS
HUWE1	10075	.	GRCh37	X	53578097	53578097	+	synonymous_variant	Silent	SNP	G	G	T	rs782626384	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	68	0	ENST00000262854.6:c.9150C>A	p.Ala3050=	p.A3050=	ENST00000262854	NM_031407.5	3050	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS35301.1	9150	MUTECT|MUSE	.	GAGCTGGCATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Pfam_domain:PF14377	.	.	ENSP00000340648	.	64/83	.	.	.	.	.	.	.	.	rs782626384	64/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;HUWE1,synonymous_variant,p.%3D,ENST00000427052,;HUWE1,upstream_gene_variant,,ENST00000426907,;HUWE1,upstream_gene_variant,,ENST00000474288,;HUWE1,upstream_gene_variant,,ENST00000468322,;	9608	68	76	SUCCESS
FAM46D	0	.	GRCh37	X	79698375	79698375	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	50	148	0	ENST00000538312.1:c.337C>T	p.Pro113Ser	p.P113S	ENST00000538312	NM_001170574.1	113	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS14446.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTACCAAAA	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,missense_variant,p.Pro113Ser,ENST00000308293,;FAM46D,missense_variant,p.Pro113Ser,ENST00000538312,;	671	148	151	SUCCESS
WDR37	22884	.	GRCh37	10	1149723	1149723	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	38	0	ENST00000263150.4:c.908G>T	p.Arg303Leu	p.R303L	ENST00000263150	NM_014023.3	303	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7057.1	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGGACGG	CODON|p.R303Q|c.908G>A|10	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19855:SF12,hmmpanther:PTHR19855,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000350954	.	10/14	.	.	.	.	.	.	.	.	COSM1717042	10/14	PASS	ENST00000358220	Transcript	.	.	ENSG00000047056	31406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.212)	.	deleterious(0)	1	WDR37_HUMAN	WDR37	HGNC	A8K976_HUMAN	.	UPI000013D3B7	SNV	WDR37,missense_variant,p.Arg303Leu,ENST00000263150,;WDR37,missense_variant,p.Arg303Leu,ENST00000358220,;	1052	38	51	SUCCESS
CALY	50632	.	GRCh37	10	135140487	135140487	+	synonymous_variant	Silent	SNP	G	G	T	rs781562591	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	77	0	ENST00000252939.4:c.255C>A	p.Thr85=	p.T85=	ENST00000252939	NM_015722.3	85	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7678.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCGGTGGG	NONE	.	.	Pfam_domain:PF06387,PIRSF_domain:PIRSF002383	.	.	ENSP00000252939	.	4/6	.	.	.	.	.	.	.	.	rs781562591	4/6	PASS	ENST00000252939	Transcript	.	.	ENSG00000130643	17938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALY_HUMAN	CALY	HGNC	.	.	UPI0000001C76	SNV	CALY,synonymous_variant,p.%3D,ENST00000368558,;CALY,synonymous_variant,p.%3D,ENST00000252939,;CALY,synonymous_variant,p.%3D,ENST00000368556,;ZNF511,intron_variant,,ENST00000368554,;CALY,downstream_gene_variant,,ENST00000368555,;RP11-122K13.14,upstream_gene_variant,,ENST00000605518,;CALY,upstream_gene_variant,,ENST00000467611,;CALY,upstream_gene_variant,,ENST00000467433,;	349	77	94	SUCCESS
ARL5B	221079	.	GRCh37	10	18957556	18957556	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	88	0	ENST00000377275.3:c.205G>A	p.Gly69Ser	p.G69S	ENST00000377275	NM_178815.3	69	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7131.1	205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGGTCAG	NONE	.	.	Prints_domain:PR00328,Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,hmmpanther:PTHR11711:SF146,hmmpanther:PTHR11711,PROSITE_profiles:PS51417	.	.	ENSP00000366487	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000377275	Transcript	.	.	ENSG00000165997	23052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ARL5B_HUMAN	ARL5B	HGNC	B0YIW9_HUMAN	.	UPI000006F7A5	SNV	ARL5B,missense_variant,p.Gly69Ser,ENST00000377275,;	438	88	75	SUCCESS
AKR1C3	8644	.	GRCh37	10	5139644	5139644	+	synonymous_variant	Silent	SNP	C	C	A	rs118150330	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	25	152	0	ENST00000380554.3:c.271C>A	p.Arg91=	p.R91=	ENST00000380554	NM_003739.5	91	Cga/Aga	0	T:0.0002	T:0	.	T:0.0014	.	A	R	protein_coding	YES	CCDS7063.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCGACCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11732:SF201,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	T:0	T:0.0006	ENSP00000369927	T:0.001	3/9	.	.	.	.	.	.	.	.	rs118150330,COSM3438495	3/9	PASS	ENST00000380554	Transcript	.	T:0.0004	ENSG00000196139	386	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	AK1C3_HUMAN	AKR1C3	HGNC	B4DL37_HUMAN	.	UPI0000140951	SNV	AKR1C3,synonymous_variant,p.%3D,ENST00000380554,;AKR1C3,synonymous_variant,p.%3D,ENST00000602997,;AKR1C3,synonymous_variant,p.%3D,ENST00000605149,;AKR1C3,5_prime_UTR_variant,,ENST00000439082,;U8,upstream_gene_variant,,ENST00000459536,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000605781,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000480822,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000470862,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000603312,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000480697,;AKR1C3,intron_variant,,ENST00000605322,;	923	152	145	SUCCESS
FAM208B	0	.	GRCh37	10	5772478	5772478	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs771606255	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	42	0	ENST00000328090.5:c.516C>G	p.Asp172Glu	p.D172E	ENST00000328090	NM_017782.4	172	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS41485.1	516	MUTECT|MUSE	.	GATGACATCTC	NONE	byFrequency	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	11/21	.	.	.	.	.	.	.	.	rs771606255	11/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	tolerated(0.21)	.	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,missense_variant,p.Asp172Glu,ENST00000328090,;FAM208B,upstream_gene_variant,,ENST00000380270,;RP11-336A10.2,intron_variant,,ENST00000411512,;FAM208B,non_coding_transcript_exon_variant,,ENST00000532080,;	1141	42	57	SUCCESS
TACR2	6865	.	GRCh37	10	71166949	71166949	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200848530	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	34	69	0	ENST00000373306.4:c.829G>C	p.Glu277Gln	p.E277Q	ENST00000373306	NM_001057.2	277	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS7293.1	829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCTGGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF208,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01025	.	.	ENSP00000362403	.	4/5	.	.	.	.	.	.	.	.	rs200848530	4/5	PASS	ENST00000373306	Transcript	.	.	ENSG00000075073	11527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.4)	.	NK2R_HUMAN	TACR2	HGNC	A6NEW7_HUMAN	.	UPI0000061EE3	SNV	TACR2,missense_variant,p.Glu277Gln,ENST00000373306,;TACR2,missense_variant,p.Glu65Gln,ENST00000373307,;	1373	69	109	SUCCESS
CYP2C9	1559	.	GRCh37	10	96709012	96709012	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	51	233	0	ENST00000260682.6:c.790A>G	p.Ile264Val	p.I264V	ENST00000260682	NM_000771.3	264	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7437.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTATTGAT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF131,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000260682	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000260682	Transcript	1	.	ENSG00000138109	2623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.393)	.	deleterious(0.04)	.	CP2C9_HUMAN	CYP2C9	HGNC	S5RV20_HUMAN,Q9UEH3_HUMAN	.	UPI0000128258	SNV	CYP2C9,missense_variant,p.Ile264Val,ENST00000260682,;CYP2C9,non_coding_transcript_exon_variant,,ENST00000473496,;	802	233	252	SUCCESS
MSANTD4	84437	.	GRCh37	11	105881627	105881627	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	81	0	ENST00000301919.4:c.18A>T	p.Arg6Ser	p.R6S	ENST00000301919	NM_032424.1	6	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS31663.1	18	MUTECT|MUSE|VARSCANS	.	CTTTTTCTTTT	NONE	.	.	hmmpanther:PTHR21732	.	.	ENSP00000304713	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000301919	Transcript	.	.	ENSG00000170903	29383	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MSD4_HUMAN	MSANTD4	HGNC	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN	.	UPI0000073CF1	SNV	MSANTD4,missense_variant,p.Arg6Ser,ENST00000534458,;MSANTD4,missense_variant,p.Arg6Ser,ENST00000530108,;MSANTD4,missense_variant,p.Arg6Ser,ENST00000530788,;MSANTD4,missense_variant,p.Arg6Ser,ENST00000301919,;MSANTD4,upstream_gene_variant,,ENST00000529805,;	1434	81	80	SUCCESS
EIF4G2	1982	.	GRCh37	11	10824597	10824597	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	60	0	ENST00000526148.1:c.976A>G	p.Ile326Val	p.I326V	ENST00000526148	NM_001172705.1	326	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31428.1	976	MUTECT|MUSE|VARSCANS	.	ACGAATTTGAT	NONE	.	.	hmmpanther:PTHR23253,Gene3D:1.25.40.180	.	.	ENSP00000433664	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000526148	Transcript	.	.	ENSG00000110321	3297	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.22)	.	.	EIF4G2	HGNC	Q59G42_HUMAN,Q2TU89_HUMAN,H0YEN8_HUMAN,H0YEC5_HUMAN,H0YDC0_HUMAN,H0YD99_HUMAN,H0YD77_HUMAN,H0YCF8_HUMAN,D3DQV9_HUMAN,B4DZF2_HUMAN	.	UPI000013C8BE	SNV	EIF4G2,missense_variant,p.Ile326Val,ENST00000531416,;EIF4G2,missense_variant,p.Ile326Val,ENST00000525681,;EIF4G2,missense_variant,p.Ile326Val,ENST00000396525,;EIF4G2,missense_variant,p.Ile326Val,ENST00000339995,;EIF4G2,missense_variant,p.Ile326Val,ENST00000526148,;EIF4G2,downstream_gene_variant,,ENST00000527526,;EIF4G2,upstream_gene_variant,,ENST00000531180,;EIF4G2,downstream_gene_variant,,ENST00000530702,;EIF4G2,downstream_gene_variant,,ENST00000532082,;EIF4G2,upstream_gene_variant,,ENST00000528839,;EIF4G2,downstream_gene_variant,,ENST00000527419,;EIF4G2,downstream_gene_variant,,ENST00000524932,;EIF4G2,downstream_gene_variant,,ENST00000532570,;EIF4G2,downstream_gene_variant,,ENST00000530211,;SNORD97,upstream_gene_variant,,ENST00000459187,;RP11-685M7.5,downstream_gene_variant,,ENST00000532365,;EIF4G2,downstream_gene_variant,,ENST00000531507,;EIF4G2,upstream_gene_variant,,ENST00000534272,;EIF4G2,downstream_gene_variant,,ENST00000525995,;EIF4G2,upstream_gene_variant,,ENST00000532120,;EIF4G2,downstream_gene_variant,,ENST00000525972,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000532383,;EIF4G2,intron_variant,,ENST00000531647,;EIF4G2,downstream_gene_variant,,ENST00000534246,;EIF4G2,downstream_gene_variant,,ENST00000533485,;EIF4G2,upstream_gene_variant,,ENST00000534470,;EIF4G2,upstream_gene_variant,,ENST00000525606,;EIF4G2,downstream_gene_variant,,ENST00000528562,;EIF4G2,downstream_gene_variant,,ENST00000527015,;EIF4G2,downstream_gene_variant,,ENST00000532349,;EIF4G2,downstream_gene_variant,,ENST00000534605,;EIF4G2,upstream_gene_variant,,ENST00000530564,;EIF4G2,downstream_gene_variant,,ENST00000532152,;	1487	60	53	SUCCESS
PIK3C2A	5286	.	GRCh37	11	17191175	17191175	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	62	0	ENST00000265970.7:c.114T>C	p.Ala38=	p.A38=	ENST00000265970	NM_002645.2	38	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7824.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAAAGCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048	.	.	ENSP00000265970	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000265970	Transcript	.	.	ENSG00000011405	8971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P3C2A_HUMAN	PIK3C2A	HGNC	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN	.	UPI000013D6B3	SNV	PIK3C2A,synonymous_variant,p.%3D,ENST00000265970,;PIK3C2A,synonymous_variant,p.%3D,ENST00000532035,;PIK3C2A,intron_variant,,ENST00000540361,;PIK3C2A,intron_variant,,ENST00000531428,;PIK3C2A,synonymous_variant,p.%3D,ENST00000533645,;	114	62	87	SUCCESS
ATHL1	0	.	GRCh37	11	290808	290808	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757991282	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	30	0	ENST00000409548.2:c.601C>G	p.Leu201Val	p.L201V	ENST00000409548	NM_025092.4	201	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS31322.2	601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCTGACA	NONE	byFrequency	.	hmmpanther:PTHR11051:SF10,hmmpanther:PTHR11051	.	.	ENSP00000387185	.	4/14	.	.	.	.	.	.	.	.	rs757991282	4/14	PASS	ENST00000409548	Transcript	.	.	ENSG00000142102	26210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	tolerated(0.07)	.	ATHL1_HUMAN	ATHL1	HGNC	.	.	UPI0000EE80CE	SNV	ATHL1,missense_variant,p.Leu24Val,ENST00000409655,;ATHL1,missense_variant,p.Leu201Val,ENST00000409479,;ATHL1,missense_variant,p.Leu201Val,ENST00000409548,;ATHL1,upstream_gene_variant,,ENST00000397660,;RP11-326C3.2,downstream_gene_variant,,ENST00000525217,;RP11-326C3.2,downstream_gene_variant,,ENST00000533924,;RP11-326C3.2,downstream_gene_variant,,ENST00000534742,;ATHL1,non_coding_transcript_exon_variant,,ENST00000474221,;ATHL1,intron_variant,,ENST00000482937,;ATHL1,downstream_gene_variant,,ENST00000529087,;ATHL1,upstream_gene_variant,,ENST00000476372,;	716	30	30	SUCCESS
MYBPC3	4607	.	GRCh37	11	47364195	47364195	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	24	115	0	ENST00000545968.1:c.1558G>A	p.Glu520Lys	p.E520K	ENST00000545968	NM_000256.3	520	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS53621.1	1558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCAGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF52,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000442795	.	17/35	.	.	.	.	.	.	.	.	.	17/35	PASS	ENST00000545968	Transcript	.	.	ENSG00000134571	7551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0.02)	.	MYPC3_HUMAN	MYBPC3	HGNC	B6D426_HUMAN	.	UPI000006EEAA	SNV	MYBPC3,missense_variant,p.Glu520Lys,ENST00000545968,;MYBPC3,missense_variant,p.Glu519Lys,ENST00000256993,;MYBPC3,missense_variant,p.Glu520Lys,ENST00000399249,;MYBPC3,missense_variant,p.Glu520Lys,ENST00000544791,;	1613	115	101	SUCCESS
MS4A3	932	.	GRCh37	11	59837694	59837694	+	synonymous_variant	Silent	SNP	C	C	T	rs775547032	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	72	0	ENST00000278865.3:c.633C>T	p.Pro211=	p.P211=	ENST00000278865	NM_006138.4	211	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31567.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCAATTC	NONE	byFrequency	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46	.	.	ENSP00000278865	.	7/7	.	.	.	.	.	.	.	.	rs775547032	7/7	PASS	ENST00000278865	Transcript	.	.	ENSG00000149516	7317	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MS4A3_HUMAN	MS4A3	HGNC	.	.	UPI000006E45E	SNV	MS4A3,synonymous_variant,p.%3D,ENST00000395032,;MS4A3,synonymous_variant,p.%3D,ENST00000534744,;MS4A3,synonymous_variant,p.%3D,ENST00000358152,;MS4A3,synonymous_variant,p.%3D,ENST00000278865,;MS4A3,3_prime_UTR_variant,,ENST00000525686,;MS4A3,non_coding_transcript_exon_variant,,ENST00000528952,;	706	72	59	SUCCESS
PHRF1	57661	.	GRCh37	11	606503	606503	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	24	0	ENST00000264555.5:c.1516C>T	p.Leu506=	p.L506=	ENST00000264555	NM_020901.2	506	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44507.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCTGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	.	ENSP00000410626	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,synonymous_variant,p.%3D,ENST00000416188,;PHRF1,synonymous_variant,p.%3D,ENST00000264555,;PHRF1,synonymous_variant,p.%3D,ENST00000413872,;PHRF1,synonymous_variant,p.%3D,ENST00000533464,;PHRF1,synonymous_variant,p.%3D,ENST00000534320,;PHRF1,non_coding_transcript_exon_variant,,ENST00000532550,;	1606	24	31	SUCCESS
PHRF1	57661	.	GRCh37	11	608262	608262	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs539237004	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	22	0	ENST00000264555.5:c.2806T>C	p.Ser936Pro	p.S936P	ENST00000264555	NM_020901.2	936	Tcc/Ccc	0	.	C:0	.	C:0	.	C	S/P	protein_coding	YES	CCDS44507.1	2803	MUTECT|MUSE	.	GGCCATCCCCC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	C:0	.	ENSP00000410626	C:0	14/18	.	.	.	.	.	.	.	.	rs539237004	14/18	common_in_exac	ENST00000416188	Transcript	.	C:0.0004	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	C:0.002	tolerated(0.07)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Ser936Pro,ENST00000264555,;PHRF1,missense_variant,p.Ser934Pro,ENST00000413872,;PHRF1,missense_variant,p.Ser932Pro,ENST00000533464,;PHRF1,missense_variant,p.Ser935Pro,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,missense_variant,p.Ser936Pro,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;	2896	22	31	SUCCESS
UNG	7374	.	GRCh37	12	109535499	109535499	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	39	151	0	ENST00000242576.2:c.15G>A	p.Lys5=	p.K5=	ENST00000242576	NM_080911.2	5	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS9124.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGACGCT	NONE	.	.	hmmpanther:PTHR11264,hmmpanther:PTHR11264:SF0	.	.	ENSP00000242576	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000242576	Transcript	.	.	ENSG00000076248	12572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNG_HUMAN	UNG	HGNC	E5KTA5_HUMAN	.	UPI000002E951	SNV	UNG,synonymous_variant,p.%3D,ENST00000242576,;ALKBH2,upstream_gene_variant,,ENST00000440112,;ALKBH2,upstream_gene_variant,,ENST00000429722,;ALKBH2,upstream_gene_variant,,ENST00000543444,;UNG,upstream_gene_variant,,ENST00000336865,;ALKBH2,upstream_gene_variant,,ENST00000536358,;ALKBH2,upstream_gene_variant,,ENST00000536242,;ALKBH2,upstream_gene_variant,,ENST00000343075,;UNG,non_coding_transcript_exon_variant,,ENST00000540158,;UNG,upstream_gene_variant,,ENST00000539287,;ALKBH2,upstream_gene_variant,,ENST00000536720,;UNG,upstream_gene_variant,,ENST00000446767,;	121	151	198	SUCCESS
OAS2	4939	.	GRCh37	12	113444239	113444239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	46	0	ENST00000342315.4:c.1490C>A	p.Thr497Lys	p.T497K	ENST00000342315	NM_016817.2	497	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31906.1	1490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACACCCA	NONE	.	.	Superfamily_domains:SSF81301,Pfam_domain:PF10421,Gene3D:1px5A02,hmmpanther:PTHR11258:SF3,hmmpanther:PTHR11258	.	.	ENSP00000342278	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000342315	Transcript	.	.	ENSG00000111335	8087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.77)	.	OAS2_HUMAN	OAS2	HGNC	.	.	UPI000013CB0B	SNV	OAS2,missense_variant,p.Thr497Lys,ENST00000392583,;OAS2,missense_variant,p.Thr497Lys,ENST00000342315,;OAS2,downstream_gene_variant,,ENST00000552756,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,downstream_gene_variant,,ENST00000548941,;	1704	46	61	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43837682	43837682	+	synonymous_variant	Silent	SNP	A	A	G	rs370946000	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	69	0	ENST00000389420.3:c.2202T>C	p.Tyr734=	p.Y734=	ENST00000389420	NM_025003.3	734	taT/taC	0	G:0	.	.	.	.	G	Y	protein_coding	YES	CCDS31778.2	2202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTATAACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF05986	.	G:0.0001	ENSP00000374071	.	16/39	.	.	.	.	.	.	.	.	rs370946000	16/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;ADAMTS20,upstream_gene_variant,,ENST00000549670,;ADAMTS20,upstream_gene_variant,,ENST00000395541,;	2202	69	76	SUCCESS
LRP1	4035	.	GRCh37	12	57573867	57573867	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	9	37	0	ENST00000243077.3:c.5179G>A	p.Ala1727Thr	p.A1727T	ENST00000243077	NM_002332.2	1727	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8932.1	5179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGCCAAC	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	31/89	.	.	.	.	.	.	.	.	.	31/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Ala1727Thr,ENST00000243077,;	5645	37	58	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72022736	72022736	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	10	68	1	ENST00000378743.3:c.3908G>A	p.Ser1303Asn	p.S1303N	ENST00000378743	NM_144982.4	1303	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS41813.1	3908	RADIA|MUTECT|VARSCANS	.	CACTACTGAAG	NONE	.	.	hmmpanther:PTHR21563	.	.	ENSP00000368017	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.728)	.	tolerated(0.25)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.Ser1303Asn,ENST00000378743,;ZFC3H1,missense_variant,p.Ser1303Asn,ENST00000552994,;ZFC3H1,downstream_gene_variant,,ENST00000546606,;	4267	69	79	SUCCESS
CAPS2	84698	.	GRCh37	12	75672708	75672708	+	intron_variant	Intron	SNP	C	C	T	rs377300939	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	10	76	0	ENST00000409445.3:c.1670-2681G>A		p.*557*	ENST00000409445	NM_032606.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9008.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCTTCAT	NONE	.	.	.	.	.	ENSP00000386959	.	.	.	.	.	.	.	.	.	.	rs377300939	.	PASS	ENST00000409445	Transcript	.	.	ENSG00000180881	16471	.	.	MODIFIER	17/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,missense_variant,p.Asp371Asn,ENST00000393284,;CAPS2,missense_variant,p.Asp193Asn,ENST00000442339,;CAPS2,intron_variant,,ENST00000409445,;CAPS2,intron_variant,,ENST00000409799,;RP11-560G2.1,intron_variant,,ENST00000549953,;CAPS2,intron_variant,,ENST00000409004,;CAPS2,3_prime_UTR_variant,,ENST00000336815,;CAPS2,3_prime_UTR_variant,,ENST00000328705,;	.	76	88	SUCCESS
DACH1	1602	.	GRCh37	13	72049304	72049304	+	synonymous_variant	Silent	SNP	G	G	A	rs1466581914	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	63	0	ENST00000305425.4:c.2058C>T	p.Gly686=	p.G686=	ENST00000305425	NM_080759.4	686	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41899.1	2058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCCACT	NONE	.	.	hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577	.	.	ENSP00000304994	.	10/11	.	.	.	.	.	.	.	.	COSM1514594	10/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,synonymous_variant,p.%3D,ENST00000305425,;DACH1,synonymous_variant,p.%3D,ENST00000313174,;DACH1,synonymous_variant,p.%3D,ENST00000354591,;DACH1,synonymous_variant,p.%3D,ENST00000359684,;	2481	63	57	SUCCESS
LMO7	4008	.	GRCh37	13	76397962	76397962	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs200869696	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	139	0	ENST00000465261.2:c.2203T>G	p.Ser735Ala	p.S735A	ENST00000465261	NM_015842.2	735	Tct/Gct	0	.	C:0	.	C:0.0014	.	G	S/A	protein_coding	YES	CCDS53876.1	2203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAATCTGGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF50156,hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4	C:0	.	ENSP00000433352	C:0	12/27	.	.	.	.	.	.	.	.	rs200869696	12/27	PASS	ENST00000465261	Transcript	.	C:0.0002	ENSG00000136153	6646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	C:0	tolerated(0.58)	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Ser1020Ala,ENST00000357063,;LMO7,missense_variant,p.Ser735Ala,ENST00000321797,;LMO7,missense_variant,p.Ser585Ala,ENST00000526202,;LMO7,missense_variant,p.Ser735Ala,ENST00000465261,;LMO7,missense_variant,p.Ser40Ala,ENST00000524651,;LMO7,missense_variant,p.Ser686Ala,ENST00000341547,;LMO7,missense_variant,p.Ser1020Ala,ENST00000377534,;LMO7,missense_variant,p.Ser634Ala,ENST00000377499,;LMO7,missense_variant,p.Ser644Ala,ENST00000447038,;LMO7,downstream_gene_variant,,ENST00000489941,;LMO7,downstream_gene_variant,,ENST00000525373,;LMO7,non_coding_transcript_exon_variant,,ENST00000485987,;LMO7,downstream_gene_variant,,ENST00000532785,;LMO7,downstream_gene_variant,,ENST00000532377,;	2963	139	78	SUCCESS
DNAJC3	5611	.	GRCh37	13	96409903	96409903	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	44	0	ENST00000602402.1:c.399A>G	p.Lys133=	p.K133=	ENST00000602402	NM_006260.4	133	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS9479.1	399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAATCTAA	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR24078:SF165,hmmpanther:PTHR24078,Pfam_domain:PF00515,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000473631	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000602402	Transcript	.	.	ENSG00000102580	9439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJC3_HUMAN	DNAJC3	HGNC	A8KA82_HUMAN	.	UPI000006F088	SNV	DNAJC3,synonymous_variant,p.%3D,ENST00000602402,;DNAJC3,intron_variant,,ENST00000376795,;	516	44	34	SUCCESS
WDR20	91833	.	GRCh37	14	102676045	102676045	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	102	0	ENST00000342702.3:c.1538T>C	p.Leu513Pro	p.L513P	ENST00000342702	NM_144574.3	513	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS55943.1	1631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCTGTGTC	NONE	.	.	hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF5	.	.	ENSP00000406084	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000454394	Transcript	.	.	ENSG00000140153	19667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	deleterious(0.03)	.	WDR20_HUMAN	WDR20	HGNC	H0YNU0_HUMAN,F5H8E6_HUMAN,B3KPG5_HUMAN	.	UPI0000E23AC1	SNV	WDR20,missense_variant,p.Leu340Pro,ENST00000545563,;WDR20,missense_variant,p.Leu513Pro,ENST00000335263,;WDR20,missense_variant,p.Leu256Pro,ENST00000499851,;WDR20,missense_variant,p.Leu452Pro,ENST00000556511,;WDR20,missense_variant,p.Leu513Pro,ENST00000342702,;WDR20,missense_variant,p.Leu389Pro,ENST00000424963,;WDR20,missense_variant,p.Leu452Pro,ENST00000556807,;WDR20,missense_variant,p.Leu544Pro,ENST00000454394,;WDR20,3_prime_UTR_variant,,ENST00000299135,;WDR20,intron_variant,,ENST00000322340,;WDR20,intron_variant,,ENST00000559478,;WDR20,downstream_gene_variant,,ENST00000558854,;WDR20,downstream_gene_variant,,ENST00000559708,;WDR20,downstream_gene_variant,,ENST00000558448,;WDR20,downstream_gene_variant,,ENST00000555973,;WDR20,downstream_gene_variant,,ENST00000558135,;WDR20,downstream_gene_variant,,ENST00000557485,;WDR20,3_prime_UTR_variant,,ENST00000555879,;WDR20,intron_variant,,ENST00000556094,;	1641	102	68	SUCCESS
IGHV3-33	28434	.	GRCh37	14	106815806	106815806	+	synonymous_variant	Silent	SNP	G	G	T	rs774808263	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	150	0	ENST00000390615.2:c.267C>A	p.Ile89=	p.I89=	ENST00000390615		89	atC/atA	0	.	.	.	.	.	T	I	IG_V_gene	YES	.	267	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGATGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375024	.	2/2	.	.	.	.	.	.	.	.	rs774808263	2/2	PASS	ENST00000390615	Transcript	.	.	ENSG00000211955	5596	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGHV3-33	HGNC	.	.	UPI000011AAD1	SNV	IGHV3-33,synonymous_variant,p.%3D,ENST00000390615,;IGHV3-32,upstream_gene_variant,,ENST00000519182,;	347	150	100	SUCCESS
IL25	64806	.	GRCh37	14	23842468	23842468	+	synonymous_variant	Silent	SNP	C	C	T	rs1566497043	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	35	0	ENST00000329715.2:c.141C>T	p.Thr47=	p.T47=	ENST00000329715	NM_022789.3	47	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9597.1	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACCTCTGA	NONE	.	.	hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF7,Gene3D:2.10.90.10,Superfamily_domains:SSF57501	.	.	ENSP00000328111	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000329715	Transcript	.	.	ENSG00000166090	13765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL25_HUMAN	IL25	HGNC	.	.	UPI0000038A0A	SNV	IL25,synonymous_variant,p.%3D,ENST00000397242,;IL25,synonymous_variant,p.%3D,ENST00000329715,;CMTM5,upstream_gene_variant,,ENST00000555731,;CMTM5,upstream_gene_variant,,ENST00000382809,;CMTM5,upstream_gene_variant,,ENST00000359320,;CMTM5,upstream_gene_variant,,ENST00000397227,;CMTM5,upstream_gene_variant,,ENST00000342473,;CMTM5,upstream_gene_variant,,ENST00000339180,;CMTM5,upstream_gene_variant,,ENST00000553750,;CMTM5,upstream_gene_variant,,ENST00000555487,;	399	35	36	SUCCESS
CPNE6	9362	.	GRCh37	14	24545726	24545726	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	45	0	ENST00000397016.2:c.1125C>G	p.Asp375Glu	p.D375E	ENST00000397016	NM_001280558.1	375	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS9607.1	1125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACTTTGC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF5,Pfam_domain:PF07002,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000380211	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000397016	Transcript	.	.	ENSG00000100884	2319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(1)	.	CPNE6_HUMAN	CPNE6	HGNC	H0YNX4_HUMAN,H0YNV2_HUMAN,H0YNP2_HUMAN,H0YNM7_HUMAN,H0YM67_HUMAN,H0YLV2_HUMAN,H0YLS9_HUMAN,H0YK44_HUMAN,B3KWK1_HUMAN	.	UPI000013C707	SNV	CPNE6,missense_variant,p.Asp430Glu,ENST00000537691,;CPNE6,missense_variant,p.Asp375Glu,ENST00000216775,;CPNE6,missense_variant,p.Asp375Glu,ENST00000397016,;CPNE6,downstream_gene_variant,,ENST00000558859,;CPNE6,downstream_gene_variant,,ENST00000558541,;CPNE6,downstream_gene_variant,,ENST00000560828,;CPNE6,downstream_gene_variant,,ENST00000560884,;NRL,downstream_gene_variant,,ENST00000396997,;CPNE6,downstream_gene_variant,,ENST00000559207,;CPNE6,downstream_gene_variant,,ENST00000559197,;CPNE6,downstream_gene_variant,,ENST00000557889,;NRL,downstream_gene_variant,,ENST00000560550,;NRL,downstream_gene_variant,,ENST00000397002,;CPNE6,downstream_gene_variant,,ENST00000560356,;NRL,downstream_gene_variant,,ENST00000561028,;CPNE6,downstream_gene_variant,,ENST00000560761,;NRL,downstream_gene_variant,,ENST00000396995,;CPNE6,downstream_gene_variant,,ENST00000558450,;CPNE6,downstream_gene_variant,,ENST00000559778,;CPNE6,downstream_gene_variant,,ENST00000560092,;CPNE6,non_coding_transcript_exon_variant,,ENST00000560845,;CPNE6,non_coding_transcript_exon_variant,,ENST00000558995,;CPNE6,non_coding_transcript_exon_variant,,ENST00000557829,;CPNE6,non_coding_transcript_exon_variant,,ENST00000460657,;CPNE6,downstream_gene_variant,,ENST00000558795,;	1436	45	48	SUCCESS
HEATR5A	25938	.	GRCh37	14	31819906	31819906	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	41	0	ENST00000389961.3:c.2411A>G	p.Gln804Arg	p.Q804R	ENST00000389961		804	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	.	.	1550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTGTTCC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF1	.	.	ENSP00000408681	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000439727	Transcript	.	.	ENSG00000129493	20276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0.02)	.	.	HEATR5A	HGNC	E9PB09_HUMAN	.	UPI0000197428	SNV	HEATR5A,missense_variant,p.Gln517Arg,ENST00000439727,;HEATR5A,missense_variant,p.Gln810Arg,ENST00000404677,;HEATR5A,missense_variant,p.Gln804Arg,ENST00000389961,;HEATR5A,missense_variant,p.Gln810Arg,ENST00000543095,;HEATR5A,missense_variant,p.Gln804Arg,ENST00000439348,;HEATR5A,missense_variant,p.Gln438Arg,ENST00000538864,;HEATR5A,missense_variant,p.Gln453Arg,ENST00000550366,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	1627	41	26	SUCCESS
PLEKHG3	26030	.	GRCh37	14	65208636	65208636	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs751804810	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	54	0	ENST00000394691.1:c.2401C>G	p.Pro801Ala	p.P801A	ENST00000394691		801	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS32098.1	2233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACCTCCC	NONE	byFrequency	.	hmmpanther:PTHR22143:SF4,hmmpanther:PTHR22143	.	.	ENSP00000247226	.	14/15	.	.	.	.	.	.	.	.	rs751804810	14/15	PASS	ENST00000247226	Transcript	.	.	ENSG00000126822	20364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	PKHG3_HUMAN	PLEKHG3	HGNC	G3V311_HUMAN	.	UPI0000407D62	SNV	PLEKHG3,missense_variant,p.Pro745Ala,ENST00000247226,;PLEKHG3,missense_variant,p.Pro334Ala,ENST00000471182,;PLEKHG3,missense_variant,p.Pro306Ala,ENST00000484731,;PLEKHG3,missense_variant,p.Pro801Ala,ENST00000394691,;SPTB,downstream_gene_variant,,ENST00000389722,;PLEKHG3,intron_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	2541	54	40	SUCCESS
PLEKHG3	26030	.	GRCh37	14	65208637	65208637	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	54	0	ENST00000394691.1:c.2402C>T	p.Pro801Leu	p.P801L	ENST00000394691		801	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32098.1	2234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTCCCA	NONE	.	.	hmmpanther:PTHR22143:SF4,hmmpanther:PTHR22143	.	.	ENSP00000247226	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000247226	Transcript	.	.	ENSG00000126822	20364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.07)	.	PKHG3_HUMAN	PLEKHG3	HGNC	G3V311_HUMAN	.	UPI0000407D62	SNV	PLEKHG3,missense_variant,p.Pro745Leu,ENST00000247226,;PLEKHG3,missense_variant,p.Pro334Leu,ENST00000471182,;PLEKHG3,missense_variant,p.Pro306Leu,ENST00000484731,;PLEKHG3,missense_variant,p.Pro801Leu,ENST00000394691,;SPTB,downstream_gene_variant,,ENST00000389722,;PLEKHG3,intron_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	2542	54	40	SUCCESS
PAPOLA	10914	.	GRCh37	14	96986492	96986492	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748090763	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	56	0	ENST00000216277.8:c.109G>A	p.Val37Ile	p.V37I	ENST00000216277	NM_032632.4	37	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS9946.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGTACTT	NONE	byFrequency	.	hmmpanther:PTHR10682:SF9,hmmpanther:PTHR10682,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,Superfamily_domains:SSF81301	.	.	ENSP00000216277	.	2/22	.	.	.	.	.	.	.	.	rs748090763	2/22	PASS	ENST00000216277	Transcript	.	.	ENSG00000090060	14981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.4)	.	PAPOA_HUMAN	PAPOLA	HGNC	G3V2A0_HUMAN,B7ZA53_HUMAN,B4DZL2_HUMAN	.	UPI0000074269	SNV	PAPOLA,missense_variant,p.Val37Ile,ENST00000392990,;PAPOLA,missense_variant,p.Val37Ile,ENST00000556619,;PAPOLA,missense_variant,p.Val37Ile,ENST00000557320,;PAPOLA,missense_variant,p.Val37Ile,ENST00000216277,;PAPOLA,missense_variant,p.Val37Ile,ENST00000557471,;PAPOLA,5_prime_UTR_variant,,ENST00000555626,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000554130,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000554887,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000556248,;PAPOLA,missense_variant,p.Val37Ile,ENST00000553689,;PAPOLA,intron_variant,,ENST00000553357,;PAPOLA,upstream_gene_variant,,ENST00000555224,;PAPOLA,upstream_gene_variant,,ENST00000557406,;	329	56	30	SUCCESS
CHAC1	79094	.	GRCh37	15	41247820	41247820	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781632634	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	25	0	ENST00000446533.3:c.643G>A	p.Gly215Ser	p.G215S	ENST00000446533	NM_024111.3	215	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS10070.2	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGGCCAC	NONE	byFrequency	.	Pfam_domain:PF04752,Gene3D:3.10.490.10,hmmpanther:PTHR12192,hmmpanther:PTHR12192:SF3	.	.	ENSP00000398105	.	3/3	.	.	.	.	.	.	.	.	rs781632634	3/3	PASS	ENST00000446533	Transcript	.	.	ENSG00000128965	28680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHAC1_HUMAN	CHAC1	HGNC	H0YK90_HUMAN	.	UPI00004FB51D	SNV	CHAC1,missense_variant,p.Gly215Ser,ENST00000446533,;CHAC1,missense_variant,p.Gly170Ser,ENST00000444189,;CHAC1,5_prime_UTR_variant,,ENST00000487220,;	952	25	30	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42128423	42128423	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146535143	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	77	0	ENST00000382448.4:c.607C>T	p.Arg203Trp	p.R203W	ENST00000382448		203	Cgg/Tgg	0	T:0.0039	T:0.003	.	T:0	.	T	R/W	protein_coding	YES	CCDS32202.1	607	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGACCGGCCC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51184,Gene3D:1vrbA01,Pfam_domain:PF13621,SMART_domains:SM00558,Superfamily_domains:SSF51197	T:0.0149	T:0	ENSP00000371886	T:0	5/25	.	.	.	.	.	.	.	.	rs146535143,COSM961573,COSM961572,COSM961574	5/25	common_in_exac	ENST00000382448	Transcript	.	T:0.0038	ENSG00000168970	34449	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	probably_damaging(0.981)	T:0	deleterious_low_confidence(0)	0,1,1,1	.	JMJD7-PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	JMJD7-PLA2G4B,missense_variant,p.Arg203Trp,ENST00000342159,;PLA2G4B,missense_variant,p.Arg203Trp,ENST00000542534,;JMJD7,missense_variant,p.Arg203Trp,ENST00000397299,;JMJD7-PLA2G4B,missense_variant,p.Arg203Trp,ENST00000382448,;JMJD7,missense_variant,p.Arg104Trp,ENST00000408047,;JMJD7,missense_variant,p.Arg104Trp,ENST00000431823,;PLA2G4B,upstream_gene_variant,,ENST00000458483,;PLA2G4B,upstream_gene_variant,,ENST00000452633,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000476036,;JMJD7,downstream_gene_variant,,ENST00000562035,;JMJD7,downstream_gene_variant,,ENST00000405106,;JMJD7,non_coding_transcript_exon_variant,,ENST00000478178,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,upstream_gene_variant,,ENST00000461382,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000487292,;	616	77	89	SUCCESS
DUOX2	50506	.	GRCh37	15	45400255	45400257	+	inframe_deletion	In_Frame_Del	DEL	TGT	TGT	-	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	TGT	TGT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	49	0	ENST00000603300.1:c.1562_1564del	p.Asn521del	p.N521del	ENST00000603300	NM_014080.4	521	aACAcc/acc	0	.	.	.	.	.	-	NT/T	protein_coding	YES	CCDS10117.1	1562-1564	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTGGTGTTCTCA	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000475084	.	13/34	.	.	.	.	.	.	.	.	.	13/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	deletion	DUOX2,inframe_deletion,p.Asn521del,ENST00000389039,;DUOX2,inframe_deletion,p.Asn521del,ENST00000603300,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;	1765-1767	49	62	SUCCESS
TRPM7	54822	.	GRCh37	15	50884667	50884667	+	synonymous_variant	Silent	SNP	C	C	T	rs765622293	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	92	0	ENST00000313478.7:c.3765G>A	p.Ser1255=	p.S1255=	ENST00000313478	NM_017672.4	1255	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS42035.1	3765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCGACGC	NONE	byFrequency	.	hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	26/39	.	.	.	.	.	.	.	.	rs765622293,COSM2216654	26/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,synonymous_variant,p.%3D,ENST00000560955,;TRPM7,synonymous_variant,p.%3D,ENST00000313478,;TRPM7,downstream_gene_variant,,ENST00000560284,;	4047	92	99	SUCCESS
AP3B2	8120	.	GRCh37	15	83328618	83328618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	70	0	ENST00000261722.3:c.3077G>A	p.Cys1026Tyr	p.C1026Y	ENST00000261722	NM_004644.4	1026	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS45331.1	3077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACAAGGA	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,PIRSF_domain:PIRSF037096	.	.	ENSP00000261722	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000261722	Transcript	.	.	ENSG00000103723	567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.384)	.	deleterious(0.04)	.	AP3B2_HUMAN	AP3B2	HGNC	F5GWU4_HUMAN	.	UPI0000125030	SNV	AP3B2,missense_variant,p.Cys994Tyr,ENST00000535348,;AP3B2,missense_variant,p.Cys1045Tyr,ENST00000535359,;AP3B2,missense_variant,p.Cys1026Tyr,ENST00000261722,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000537735,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,downstream_gene_variant,,ENST00000538592,;AP3B2,downstream_gene_variant,,ENST00000545315,;	3285	70	72	SUCCESS
UNC45A	55898	.	GRCh37	15	91478859	91478859	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs34963697	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	67	0	ENST00000418476.2:c.137A>C	p.Gln46Pro	p.Q46P	ENST00000418476	NM_018671.3	46	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS10367.1	137	RADIA|MUTECT|MUSE|VARSCANS	.	CACTCAGGCCC	NONE	byCluster	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF275,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000407487	.	2/20	.	.	.	.	.	.	.	.	rs34963697	2/20	PASS	ENST00000418476	Transcript	.	.	ENSG00000140553	30594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.346)	.	deleterious(0.01)	.	UN45A_HUMAN	UNC45A	HGNC	.	.	UPI000000D953	SNV	UNC45A,missense_variant,p.Gln46Pro,ENST00000418476,;UNC45A,missense_variant,p.Gln31Pro,ENST00000394275,;HDDC3,upstream_gene_variant,,ENST00000330334,;HDDC3,upstream_gene_variant,,ENST00000559898,;HDDC3,upstream_gene_variant,,ENST00000561036,;HDDC3,upstream_gene_variant,,ENST00000394272,;AC068831.3,upstream_gene_variant,,ENST00000438890,;AC068831.3,upstream_gene_variant,,ENST00000448987,;UNC45A,non_coding_transcript_exon_variant,,ENST00000556482,;UNC45A,non_coding_transcript_exon_variant,,ENST00000553671,;UNC45A,downstream_gene_variant,,ENST00000556319,;UNC45A,downstream_gene_variant,,ENST00000480470,;UNC45A,downstream_gene_variant,,ENST00000461266,;UNC45A,non_coding_transcript_exon_variant,,ENST00000557212,;UNC45A,non_coding_transcript_exon_variant,,ENST00000495068,;UNC45A,non_coding_transcript_exon_variant,,ENST00000497152,;UNC45A,non_coding_transcript_exon_variant,,ENST00000486253,;HDDC3,upstream_gene_variant,,ENST00000494993,;HDDC3,upstream_gene_variant,,ENST00000559834,;	177	67	63	SUCCESS
ST8SIA2	8128	.	GRCh37	15	92981799	92981799	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776036894	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	47	0	ENST00000268164.3:c.507C>A	p.Ser169Arg	p.S169R	ENST00000268164	NM_006011.3	169	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS10372.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCGGCTG	NONE	byFrequency	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR11987:SF30,hmmpanther:PTHR11987	.	.	ENSP00000268164	.	4/6	.	.	.	.	.	.	.	.	rs776036894	4/6	PASS	ENST00000268164	Transcript	.	.	ENSG00000140557	10870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	SIA8B_HUMAN	ST8SIA2	HGNC	B2R9U8_HUMAN	.	UPI0000135970	SNV	ST8SIA2,missense_variant,p.Ser148Arg,ENST00000539113,;ST8SIA2,missense_variant,p.Ser126Arg,ENST00000555434,;ST8SIA2,missense_variant,p.Ser169Arg,ENST00000268164,;ST8SIA2,non_coding_transcript_exon_variant,,ENST00000556382,;	744	47	61	SUCCESS
LRRC28	123355	.	GRCh37	15	99828120	99828120	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	18	95	0	ENST00000301981.3:c.349C>T	p.Arg117Ter	p.R117*	ENST00000301981	NM_144598.2	117	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS10380.1	349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCGATTA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF433,hmmpanther:PTHR23155,Low_complexity_(Seg):seg	.	.	ENSP00000304923	.	5/10	.	.	.	.	.	.	.	.	COSM3505663	5/10	PASS	ENST00000301981	Transcript	.	.	ENSG00000168904	28355	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LRC28_HUMAN	LRRC28	HGNC	Q8NB41_HUMAN,H0YNW4_HUMAN,H0YKF6_HUMAN,B4DK22_HUMAN	.	UPI000000DBCB	SNV	LRRC28,stop_gained,p.Arg117Ter,ENST00000447360,;LRRC28,stop_gained,p.Arg117Ter,ENST00000442993,;LRRC28,stop_gained,p.Arg117Ter,ENST00000301981,;LRRC28,stop_gained,p.Arg117Ter,ENST00000558861,;LRRC28,stop_gained,p.Arg72Ter,ENST00000561276,;LRRC28,stop_gained,p.Arg117Ter,ENST00000422500,;LRRC28,intron_variant,,ENST00000558172,;LRRC28,intron_variant,,ENST00000558879,;LRRC28,intron_variant,,ENST00000331450,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558500,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559399,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558771,;LRRC28,3_prime_UTR_variant,,ENST00000559433,;LRRC28,3_prime_UTR_variant,,ENST00000561253,;LRRC28,intron_variant,,ENST00000558471,;HNRNPA1P62,upstream_gene_variant,,ENST00000559372,;	589	95	111	SUCCESS
ZC3H7A	29066	.	GRCh37	16	11846585	11846585	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	63	0	ENST00000355758.4:c.2666A>C	p.Glu889Ala	p.E889A	ENST00000355758	NM_014153.3	889	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS10550.1	2666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCTCGGTG	NONE	.	.	hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF13	.	.	ENSP00000379773	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000396516	Transcript	.	.	ENSG00000122299	30959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	Z3H7A_HUMAN	ZC3H7A	HGNC	I3L3S2_HUMAN,I3L3F9_HUMAN,I3L382_HUMAN,I3L1Y3_HUMAN	.	UPI000000DB79	SNV	ZC3H7A,missense_variant,p.Glu85Ala,ENST00000575984,;ZC3H7A,missense_variant,p.Glu889Ala,ENST00000355758,;ZC3H7A,missense_variant,p.Glu889Ala,ENST00000396516,;ZC3H7A,downstream_gene_variant,,ENST00000571198,;ZC3H7A,3_prime_UTR_variant,,ENST00000571405,;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000570918,;ZC3H7A,downstream_gene_variant,,ENST00000570862,;	2864	63	51	SUCCESS
IFT140	9742	.	GRCh37	16	1575967	1575967	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769761601	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	34	0	ENST00000426508.2:c.2689C>A	p.Arg897Ser	p.R897S	ENST00000426508	NM_014714.3	897	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS10439.1	2689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCGATCGT	NONE	.	.	hmmpanther:PTHR15722	.	.	ENSP00000406012	.	21/31	.	.	.	.	.	.	.	.	rs769761601,COSM1493618	21/31	PASS	ENST00000426508	Transcript	.	.	ENSG00000187535	29077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.882)	.	deleterious(0.03)	0,1	IF140_HUMAN	IFT140	HGNC	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN	.	UPI0000073C64	SNV	IFT140,missense_variant,p.Arg91Ser,ENST00000361339,;IFT140,missense_variant,p.Arg897Ser,ENST00000426508,;TMEM204,upstream_gene_variant,,ENST00000253934,;IFT140,3_prime_UTR_variant,,ENST00000397417,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;IFT140,non_coding_transcript_exon_variant,,ENST00000566818,;	3053	34	39	SUCCESS
MYH11	4629	.	GRCh37	16	15857692	15857692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	84	0	ENST00000300036.5:c.1090G>A	p.Glu364Lys	p.E364K	ENST00000300036	NM_002474.2	364	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS45423.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCCTTCT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000379616	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,missense_variant,p.Glu371Lys,ENST00000452625,;MYH11,missense_variant,p.Glu364Lys,ENST00000576790,;MYH11,missense_variant,p.Glu364Lys,ENST00000300036,;MYH11,missense_variant,p.Glu371Lys,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	1199	84	64	SUCCESS
USP31	57478	.	GRCh37	16	23079793	23079793	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	31	0	ENST00000219689.7:c.3633C>T	p.Ile1211=	p.I1211=	ENST00000219689	NM_020718.3	1211	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10607.1	3633	MUTECT|MUSE	.	GACTTGATGCT	NONE	.	.	.	.	.	ENSP00000219689	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000219689	Transcript	.	.	ENSG00000103404	20060	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP31_HUMAN	USP31	HGNC	.	.	UPI0000366B06	SNV	USP31,synonymous_variant,p.%3D,ENST00000219689,;USP31,synonymous_variant,p.%3D,ENST00000567975,;RP11-20G6.3,upstream_gene_variant,,ENST00000563129,;USP31,non_coding_transcript_exon_variant,,ENST00000381162,;	3633	31	34	SUCCESS
ESRP2	80004	.	GRCh37	16	68266322	68266322	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	59	0	ENST00000565858.1:c.936C>A	p.Asp312Glu	p.D312E	ENST00000565858	NM_024939.2	312	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS10863.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAGGTCCCG	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000418748	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000473183	Transcript	.	.	ENSG00000103067	26152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.07)	.	ESRP2_HUMAN	ESRP2	HGNC	J3QQJ9_HUMAN,J3KRF2_HUMAN	.	UPI000006FB08	SNV	ESRP2,missense_variant,p.Asp302Glu,ENST00000473183,;ESRP2,missense_variant,p.Asp312Glu,ENST00000565858,;NFATC3,downstream_gene_variant,,ENST00000346183,;ESRP2,downstream_gene_variant,,ENST00000562724,;NFATC3,downstream_gene_variant,,ENST00000329524,;NFATC3,downstream_gene_variant,,ENST00000349223,;ESRP2,downstream_gene_variant,,ENST00000564382,;RP11-96D1.10,downstream_gene_variant,,ENST00000571975,;RP11-96D1.11,upstream_gene_variant,,ENST00000571197,;RP11-96D1.6,downstream_gene_variant,,ENST00000564147,;ESRP2,non_coding_transcript_exon_variant,,ENST00000565213,;ESRP2,intron_variant,,ENST00000566774,;ESRP2,intron_variant,,ENST00000251366,;ESRP2,downstream_gene_variant,,ENST00000562567,;ESRP2,downstream_gene_variant,,ENST00000564465,;ESRP2,downstream_gene_variant,,ENST00000563159,;ESRP2,downstream_gene_variant,,ENST00000569964,;ESRP2,downstream_gene_variant,,ENST00000562738,;	1445	59	78	SUCCESS
FANCA	2175	.	GRCh37	16	89831471	89831471	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	43	0	ENST00000389301.3:c.2605C>G	p.Gln869Glu	p.Q869E	ENST00000389301	NM_000135.2	869	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS32515.1	2605	MUTECT|MUSE|VARSCANS	.	GAACTGAAACT	NONE	.	.	hmmpanther:PTHR12047	.	.	ENSP00000373952	.	28/43	.	.	.	.	.	.	.	.	.	28/43	PASS	ENST00000389301	Transcript	.	.	ENSG00000187741	3582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.042)	.	deleterious(0.01)	.	FANCA_HUMAN	FANCA	HGNC	H3BT53_HUMAN	.	UPI0000520A1A	SNV	FANCA,missense_variant,p.Gln869Glu,ENST00000389301,;FANCA,missense_variant,p.Gln869Glu,ENST00000568369,;FANCA,missense_variant,p.Gln5Glu,ENST00000563318,;FANCA,downstream_gene_variant,,ENST00000561667,;FANCA,downstream_gene_variant,,ENST00000567205,;FANCA,upstream_gene_variant,,ENST00000563510,;FANCA,upstream_gene_variant,,ENST00000305699,;FANCA,upstream_gene_variant,,ENST00000561660,;FANCA,upstream_gene_variant,,ENST00000567988,;	2636	43	38	SUCCESS
TRPV3	162514	.	GRCh37	17	3417893	3417893	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs765435661	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	46	1	ENST00000576742.1:c.2272C>T	p.Arg758Ter	p.R758*	ENST00000576742	NM_145068.3	758	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS58500.1	2272	MUTECT|MUSE	.	TGTTCGTCTTA	NONE	.	.	hmmpanther:PTHR10582:SF6,hmmpanther:PTHR10582	.	.	ENSP00000301365	.	17/18	.	.	.	.	.	.	.	.	rs765435661	17/18	PASS	ENST00000301365	Transcript	.	.	ENSG00000167723	18084	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRPV3_HUMAN	TRPV3	HGNC	.	.	UPI0000200627	SNV	TRPV3,stop_gained,p.Arg758Ter,ENST00000301365,;TRPV3,stop_gained,p.Arg758Ter,ENST00000572519,;TRPV3,stop_gained,p.Arg758Ter,ENST00000576742,;SPATA22,upstream_gene_variant,,ENST00000541913,;SPATA22,upstream_gene_variant,,ENST00000570318,;TRPV3,3_prime_UTR_variant,,ENST00000577016,;TRPV3,3_prime_UTR_variant,,ENST00000381913,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;	2404	47	50	SUCCESS
KRT26	353288	.	GRCh37	17	38922867	38922867	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	60	0	ENST00000335552.4:c.1307T>C	p.Ile436Thr	p.I436T	ENST00000335552	NM_181539.4	436	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11374.1	1307	MUTECT|MUSE	.	TGCCAATTTGA	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF162	.	.	ENSP00000334798	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000335552	Transcript	.	.	ENSG00000186393	30840	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	tolerated(0.39)	.	K1C26_HUMAN	KRT26	HGNC	.	.	UPI0000200C8F	SNV	KRT26,missense_variant,p.Ile436Thr,ENST00000335552,;	1356	60	53	SUCCESS
SCRN2	90507	.	GRCh37	17	45916030	45916030	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	62	0	ENST00000290216.9:c.805C>G	p.Leu269Val	p.L269V	ENST00000290216	NM_001145023.1	269	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS11519.1	805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGGATGC	NONE	.	.	hmmpanther:PTHR12994:SF16,hmmpanther:PTHR12994	.	.	ENSP00000290216	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000290216	Transcript	.	.	ENSG00000141295	30381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SCRN2_HUMAN	SCRN2	HGNC	J3QR84_HUMAN	.	UPI000013DFCB	SNV	SCRN2,missense_variant,p.Leu269Val,ENST00000407215,;SCRN2,missense_variant,p.Leu277Val,ENST00000584123,;SCRN2,missense_variant,p.Leu269Val,ENST00000290216,;SCRN2,missense_variant,p.Leu135Val,ENST00000584567,;LRRC46,downstream_gene_variant,,ENST00000269025,;SCRN2,downstream_gene_variant,,ENST00000578323,;SCRN2,3_prime_UTR_variant,,ENST00000582459,;SCRN2,3_prime_UTR_variant,,ENST00000581645,;SCRN2,3_prime_UTR_variant,,ENST00000579856,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,downstream_gene_variant,,ENST00000578840,;SCRN2,downstream_gene_variant,,ENST00000583090,;LRRC46,downstream_gene_variant,,ENST00000584809,;SCRN2,downstream_gene_variant,,ENST00000581546,;LRRC46,downstream_gene_variant,,ENST00000584580,;SCRN2,downstream_gene_variant,,ENST00000582656,;LRRC46,downstream_gene_variant,,ENST00000579971,;SCRN2,downstream_gene_variant,,ENST00000580428,;	931	62	47	SUCCESS
LLGL2	3993	.	GRCh37	17	73539501	73539501	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	40	0	ENST00000392550.3:c.-7A>G		p.*3*	ENST00000392550	NM_001031803.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32733.1	.	MUTECT|MUSE	.	AGACTAAGCAA	NONE	.	.	.	.	.	ENSP00000376333	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000392550	Transcript	.	.	ENSG00000073350	6629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	L2GL2_HUMAN	LLGL2	HGNC	J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN	.	UPI00005905A8	SNV	LLGL2,5_prime_UTR_variant,,ENST00000581713,;LLGL2,5_prime_UTR_variant,,ENST00000577200,;LLGL2,5_prime_UTR_variant,,ENST00000580925,;LLGL2,5_prime_UTR_variant,,ENST00000167462,;LLGL2,5_prime_UTR_variant,,ENST00000580578,;LLGL2,5_prime_UTR_variant,,ENST00000375227,;LLGL2,5_prime_UTR_variant,,ENST00000392550,;LLGL2,5_prime_UTR_variant,,ENST00000579392,;LLGL2,5_prime_UTR_variant,,ENST00000578536,;LLGL2,5_prime_UTR_variant,,ENST00000578363,;LLGL2,upstream_gene_variant,,ENST00000583658,;	111	40	54	SUCCESS
ZNF407	55628	.	GRCh37	18	72775252	72775252	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs867014418	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	84	0	ENST00000299687.5:c.5575C>T	p.Pro1859Ser	p.P1859S	ENST00000299687	NM_017757.2	1859	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45885.1	5575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGCCCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402	.	.	ENSP00000299687	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.96)	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,missense_variant,p.Pro1859Ser,ENST00000299687,;ZNF407,non_coding_transcript_exon_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	5575	84	43	SUCCESS
ZNF236	7776	.	GRCh37	18	74622651	74622651	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	63	0	ENST00000253159.8:c.2683C>G	p.Gln895Glu	p.Q895E	ENST00000253159	NM_007345.3	895	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS42447.1	2683	MUTECT|MUSE|VARSCANS	.	AGCCTCAGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15	.	.	ENSP00000253159	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000253159	Transcript	.	.	ENSG00000130856	13028	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.044)	.	tolerated(0.14)	.	ZN236_HUMAN	ZNF236	HGNC	.	.	UPI0000F6DCCB	SNV	ZNF236,missense_variant,p.Gln897Glu,ENST00000320610,;ZNF236,missense_variant,p.Gln895Glu,ENST00000253159,;ZNF236,missense_variant,p.Gln895Glu,ENST00000543926,;ZNF236,upstream_gene_variant,,ENST00000581450,;	2881	63	48	SUCCESS
PLVAP	83483	.	GRCh37	19	17476642	17476642	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771476239	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	42	0	ENST00000252590.4:c.632G>A	p.Arg211His	p.R211H	ENST00000252590	NM_031310.1	211	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS32952.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGCTCT	NONE	byFrequency	.	hmmpanther:PTHR21687,hmmpanther:PTHR21687:SF2,Pfam_domain:PF06637	.	.	ENSP00000252590	.	3/6	.	.	.	.	.	.	.	.	rs771476239	3/6	PASS	ENST00000252590	Transcript	.	.	ENSG00000130300	13635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	tolerated(0.06)	.	PLVAP_HUMAN	PLVAP	HGNC	.	.	UPI000003ED36	SNV	PLVAP,missense_variant,p.Arg211His,ENST00000252590,;PLVAP,intron_variant,,ENST00000595816,;PLVAP,intron_variant,,ENST00000599426,;CTD-2278I10.1,downstream_gene_variant,,ENST00000597592,;	694	42	50	SUCCESS
IZUMO4	113177	.	GRCh37	19	2096977	2096977	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	12	0	ENST00000395301.3:c.33G>C	p.Thr11=	p.T11=	ENST00000395301	NM_001039846.1	11	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS42458.1	33	MUTECT|MUSE	.	CTGACGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000378712	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000395301	Transcript	.	.	ENSG00000099840	26950	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IZUM4_HUMAN	IZUMO4	HGNC	Q7LE06_HUMAN,B4DFG3_HUMAN	.	UPI00001D8219	SNV	IZUMO4,synonymous_variant,p.%3D,ENST00000395296,;IZUMO4,synonymous_variant,p.%3D,ENST00000395301,;IZUMO4,synonymous_variant,p.%3D,ENST00000395307,;MOB3A,upstream_gene_variant,,ENST00000589902,;MOB3A,upstream_gene_variant,,ENST00000357066,;MOB3A,upstream_gene_variant,,ENST00000591236,;MOB3A,upstream_gene_variant,,ENST00000588048,;AP3D1,downstream_gene_variant,,ENST00000345016,;AP3D1,downstream_gene_variant,,ENST00000356926,;AP3D1,downstream_gene_variant,,ENST00000350812,;AP3D1,downstream_gene_variant,,ENST00000355272,;IZUMO4,upstream_gene_variant,,ENST00000588003,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000478879,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000498554,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000590985,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000497445,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000481489,;AP3D1,downstream_gene_variant,,ENST00000589223,;AP3D1,downstream_gene_variant,,ENST00000585652,;IZUMO4,upstream_gene_variant,,ENST00000593185,;IZUMO4,upstream_gene_variant,,ENST00000591894,;AP3D1,downstream_gene_variant,,ENST00000591650,;	97	12	18	SUCCESS
ZNF738	148203	.	GRCh37	19	21558044	21558044	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs541516024	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	36	0	ENST00000311015.3:c.101C>T	p.Pro34Leu	p.P34L	ENST00000311015		34	cCg/cTg	0	.	T:0	.	T:0	.	T	P/L	protein_coding	YES	.	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCGTTGA	NONE	by1000G	.	Superfamily_domains:0044637,hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF45	T:0	.	ENSP00000311957	T:0.001	3/5	.	.	.	.	.	.	.	.	rs541516024	3/5	PASS	ENST00000311015	Transcript	.	T:0.0002	ENSG00000172687	32469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	T:0	tolerated(0.42)	.	ZN738_HUMAN	ZNF738	HGNC	.	.	UPI000006D73F	SNV	ZNF738,missense_variant,p.Pro34Leu,ENST00000311015,;ZNF738,missense_variant,p.Pro34Leu,ENST00000380870,;ZNF738,missense_variant,p.Pro34Leu,ENST00000597810,;ZNF738,downstream_gene_variant,,ENST00000594245,;ZNF738,3_prime_UTR_variant,,ENST00000597492,;	312	36	42	SUCCESS
TMPRSS9	360200	.	GRCh37	19	2399148	2399148	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	64	0	ENST00000332578.3:c.369C>T	p.Ile123=	p.I123=	ENST00000332578	NM_182973.1	123	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12088.1	369	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCTCCCT	NONE	.	.	hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF108,PIRSF_domain:PIRSF037931	.	.	ENSP00000330264	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000332578	Transcript	.	.	ENSG00000178297	30079	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPS9_HUMAN	TMPRSS9	HGNC	.	.	UPI00001B4EC6	SNV	TMPRSS9,synonymous_variant,p.%3D,ENST00000332578,;TMPRSS9,downstream_gene_variant,,ENST00000592650,;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;	369	64	46	SUCCESS
KIRREL2	84063	.	GRCh37	19	36352846	36352846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	15	84	0	ENST00000360202.5:c.1430C>A	p.Ser477Tyr	p.S477Y	ENST00000360202	NM_032123.5	477	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS12481.1	1430	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCTGACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000353331	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000360202	Transcript	.	.	ENSG00000126259	18816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.165)	.	deleterious(0)	.	KIRR2_HUMAN	KIRREL2	HGNC	.	.	UPI0000366DD8	SNV	KIRREL2,missense_variant,p.Ser477Tyr,ENST00000592409,;KIRREL2,missense_variant,p.Ser477Tyr,ENST00000262625,;KIRREL2,missense_variant,p.Ser477Tyr,ENST00000360202,;KIRREL2,missense_variant,p.Ser427Tyr,ENST00000347900,;KIRREL2,downstream_gene_variant,,ENST00000586102,;NPHS1,intron_variant,,ENST00000591817,;	1628	84	116	SUCCESS
EML2	24139	.	GRCh37	19	46136177	46136177	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	17	76	0	ENST00000245925.3:c.452A>C	p.His151Pro	p.H151P	ENST00000245925	NM_012155.2	151	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS59399.1	1055	RADIA|MUTECT|MUSE|VARSCANS	.	GCACGTGTAAG	NONE	.	.	hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000468312	.	9/22	.	.	.	.	.	.	.	.	COSM474929	9/22	PASS	ENST00000587152	Transcript	.	.	ENSG00000125746	18035	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.789)	.	deleterious(0.01)	1	EMAL2_HUMAN	EML2	HGNC	K7ESL7_HUMAN,K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN	.	UPI0001DD21BF	SNV	EML2,missense_variant,p.His352Pro,ENST00000587152,;EML2,missense_variant,p.His298Pro,ENST00000536630,;EML2,missense_variant,p.His129Pro,ENST00000593255,;EML2,missense_variant,p.His129Pro,ENST00000591721,;EML2,missense_variant,p.His151Pro,ENST00000245925,;EML2,missense_variant,p.His129Pro,ENST00000586770,;EML2,missense_variant,p.His151Pro,ENST00000589876,;EML2,missense_variant,p.His32Pro,ENST00000588496,;EML2,upstream_gene_variant,,ENST00000588272,;EML2,downstream_gene_variant,,ENST00000590043,;EML2,downstream_gene_variant,,ENST00000590018,;EML2,upstream_gene_variant,,ENST00000586902,;EML2,upstream_gene_variant,,ENST00000590580,;EML2,missense_variant,p.His309Pro,ENST00000399594,;EML2,missense_variant,p.His18Pro,ENST00000592853,;EML2,missense_variant,p.His151Pro,ENST00000588308,;EML2,missense_variant,p.Thr58Pro,ENST00000586195,;EML2,non_coding_transcript_exon_variant,,ENST00000588889,;EML2,non_coding_transcript_exon_variant,,ENST00000588000,;EML2,non_coding_transcript_exon_variant,,ENST00000588610,;EML2,non_coding_transcript_exon_variant,,ENST00000587804,;	1240	76	123	SUCCESS
FAM71E2	284418	.	GRCh37	19	55871106	55871106	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	18	85	0	ENST00000424985.3:c.1130C>A	p.Ser377Tyr	p.S377Y	ENST00000424985	NM_001145402.1	377	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	.	1130	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGAAGAG	NONE	.	.	hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF1	.	.	ENSP00000398617	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000424985	Transcript	.	.	ENSG00000180043	25278	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.946)	.	deleterious(0.02)	.	F71E2_HUMAN	FAM71E2	HGNC	.	.	UPI0001949ABA	SNV	FAM71E2,missense_variant,p.Ser377Tyr,ENST00000424985,;IL11,downstream_gene_variant,,ENST00000264563,;COX6B2,upstream_gene_variant,,ENST00000326529,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;CTD-2105E13.6,upstream_gene_variant,,ENST00000591954,;	1324	85	144	SUCCESS
RFPL4A	342931	.	GRCh37	19	56274316	56274316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	24	218	0	ENST00000434937.2:c.639G>T	p.Leu213Phe	p.L213F	ENST00000434937	NM_001145014.1	213	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46201.1	639	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGCACAG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF202,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000392936	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000434937	Transcript	.	.	ENSG00000223638	16449	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.739)	.	deleterious(0.04)	.	RFPLA_HUMAN	RFPL4A	HGNC	.	.	UPI0000D6181F	SNV	RFPL4A,missense_variant,p.Leu213Phe,ENST00000434937,;	810	218	255	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150529206	150529206	+	synonymous_variant	Silent	SNP	G	G	A	rs765130554	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	53	0	ENST00000271643.4:c.1686G>A	p.Arg562=	p.R562=	ENST00000271643	NM_019032.4	562	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS955.1	1686	MUTECT|MUSE|VARSCANS	.	CCCAGGGAGGA	NONE	byFrequency	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF05986	.	.	ENSP00000271643	.	10/19	.	.	.	.	.	.	.	.	rs765130554	10/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,synonymous_variant,p.%3D,ENST00000271643,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369038,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369039,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369041,;AL356356.1,downstream_gene_variant,,ENST00000538795,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;	1922	53	77	SUCCESS
SPRR3	6707	.	GRCh37	1	152975594	152975594	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	53	135	0	ENST00000295367.4:c.98T>G	p.Phe33Cys	p.F33C	ENST00000295367	NM_001097589.1	33	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS1033.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATTTGTTC	NONE	.	.	Pfam_domain:PF02389,hmmpanther:PTHR23263:SF41,hmmpanther:PTHR23263	.	.	ENSP00000330391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000331860	Transcript	.	.	ENSG00000163209	11268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.46)	.	SPRR3_HUMAN	SPRR3	HGNC	B1AN48_HUMAN	.	UPI0000127F1F	SNV	SPRR3,missense_variant,p.Phe33Cys,ENST00000295367,;SPRR3,missense_variant,p.Phe33Cys,ENST00000331860,;SPRR3,missense_variant,p.Phe33Cys,ENST00000542696,;SPRR3,missense_variant,p.Phe33Cys,ENST00000443178,;SPRR3,downstream_gene_variant,,ENST00000495845,;	248	135	162	SUCCESS
OR10K2	391107	.	GRCh37	1	158390017	158390017	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	67	0	ENST00000314902.2:c.640A>T	p.Ile214Phe	p.I214F	ENST00000314902	NM_001004476.1	214	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS30896.1	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATCAACA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF325,PROSITE_profiles:PS50262	.	.	ENSP00000324251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314902	Transcript	.	.	ENSG00000180708	14826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O10K2_HUMAN	OR10K2	HGNC	.	.	UPI0000041BC2	SNV	OR10K2,missense_variant,p.Ile214Phe,ENST00000314902,;	640	67	123	SUCCESS
FBLIM1	54751	.	GRCh37	1	16096974	16096974	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	45	0	ENST00000375766.3:c.612C>G	p.Tyr204Ter	p.Y204*	ENST00000375766	NM_017556.2	204	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS44064.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACCATGC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24207,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132	.	.	ENSP00000416387	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000441801	Transcript	.	.	ENSG00000162458	24686	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLI1_HUMAN	FBLIM1	HGNC	E7EPI5_HUMAN,E7EN81_HUMAN,D6RAI6_HUMAN,D6RA19_HUMAN,D6R9V9_HUMAN,D6R9I4_HUMAN	.	UPI0000520D52	SNV	FBLIM1,stop_gained,p.Tyr204Ter,ENST00000441801,;FBLIM1,stop_gained,p.Tyr107Ter,ENST00000400773,;FBLIM1,stop_gained,p.Tyr204Ter,ENST00000375771,;FBLIM1,stop_gained,p.Tyr107Ter,ENST00000332305,;FBLIM1,stop_gained,p.Tyr204Ter,ENST00000375766,;FBLIM1,stop_gained,p.Tyr107Ter,ENST00000502739,;FBLIM1,downstream_gene_variant,,ENST00000431771,;FBLIM1,downstream_gene_variant,,ENST00000483633,;	819	45	37	SUCCESS
DNM3	26052	.	GRCh37	1	172356431	172356431	+	synonymous_variant	Silent	SNP	C	C	T	rs1204818504	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	8	66	0	ENST00000355305.5:c.2235C>T	p.Ile745=	p.I745=	ENST00000355305		745	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS53431.1	2217	MUTECT|MUSE|VARSCANS	.	GACATCAGCAC	NONE	.	.	PROSITE_profiles:PS51388,hmmpanther:PTHR11566:SF54,hmmpanther:PTHR11566,SMART_domains:SM00302	.	.	ENSP00000350876	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,synonymous_variant,p.%3D,ENST00000367731,;DNM3,synonymous_variant,p.%3D,ENST00000355305,;DNM3,synonymous_variant,p.%3D,ENST00000358155,;DNM3,synonymous_variant,p.%3D,ENST00000485254,;PIGC,intron_variant,,ENST00000489002,;PIGC,intron_variant,,ENST00000475059,;DNM3,non_coding_transcript_exon_variant,,ENST00000491124,;	2393	66	101	SUCCESS
C4BPA	722	.	GRCh37	1	207288822	207288822	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	24	75	0	ENST00000367070.3:c.390A>G	p.Leu130=	p.L130=	ENST00000367070	NM_000715.3	130	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1477.1	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTATCTTT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356037	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000367070	Transcript	.	.	ENSG00000123838	1325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C4BPA_HUMAN	C4BPA	HGNC	Q5VVQ8_HUMAN,A6PVY5_HUMAN	.	UPI0000126C28	SNV	C4BPA,synonymous_variant,p.%3D,ENST00000367070,;C4BPA,synonymous_variant,p.%3D,ENST00000421786,;C4BPA,downstream_gene_variant,,ENST00000424088,;	584	75	101	SUCCESS
CR1L	1379	.	GRCh37	1	207871016	207871016	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs532505670	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	384	64	287	0	ENST00000508064.2:c.1031G>C	p.Arg344Thr	p.R344T	ENST00000508064	NM_175710.1	344	aGa/aCa	0	.	C:0	.	C:0.0014	.	C	R/T	protein_coding	YES	CCDS44310.1	1031	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGATGTG	NONE	by1000G	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923	C:0	.	ENSP00000421736	C:0	6/12	.	.	.	.	.	.	.	.	rs532505670,COSM1338462,COSM1338461	6/12	PASS	ENST00000508064	Transcript	.	C:0.0002	ENSG00000197721	2335	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.012)	C:0	tolerated(0.4)	0,1,1	CR1L_HUMAN	CR1L	HGNC	.	.	UPI0000DD792A	SNV	CR1L,missense_variant,p.Arg344Thr,ENST00000508064,;CR1L,intron_variant,,ENST00000530905,;CR1L,missense_variant,p.Arg288Thr,ENST00000294997,;	1091	287	449	SUCCESS
USH2A	7399	.	GRCh37	1	216363610	216363610	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1341078203	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	54	0	ENST00000307340.3:c.4351G>T	p.Gly1451Cys	p.G1451C	ENST00000307340	NM_206933.2	1451	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31025.1	4351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACCAACTG	NONE	.	.	Superfamily_domains:SSF49265,Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	20/72	.	.	.	.	.	.	.	.	.	20/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Gly1451Cys,ENST00000366942,;USH2A,missense_variant,p.Gly1451Cys,ENST00000366943,;USH2A,missense_variant,p.Gly1451Cys,ENST00000307340,;RP5-1099E6.3,upstream_gene_variant,,ENST00000420867,;	4738	54	87	SUCCESS
ITPKB	3707	.	GRCh37	1	226829808	226829808	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	35	0	ENST00000272117.3:c.2265G>A	p.Glu755=	p.E755=	ENST00000272117		755	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS1555.1	2265	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCTCCTC	NONE	.	.	hmmpanther:PTHR12400:SF4,hmmpanther:PTHR12400,Pfam_domain:PF03770,Superfamily_domains:SSF56104	.	.	ENSP00000411152	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,synonymous_variant,p.%3D,ENST00000272117,;ITPKB,synonymous_variant,p.%3D,ENST00000429204,;	2593	35	62	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232607246	232607246	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	96	0	ENST00000262861.4:c.2114A>T	p.Asp705Val	p.D705V	ENST00000262861	NM_020808.3	705	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS41474.1	2114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTCATTT	NONE	.	.	Superfamily_domains:0043732,Pfam_domain:PF02145,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711,PROSITE_profiles:PS50085	.	.	ENSP00000355589	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Asp705Val,ENST00000366630,;SIPA1L2,missense_variant,p.Asp705Val,ENST00000262861,;	2473	96	94	SUCCESS
SMYD3	64754	.	GRCh37	1	246021833	246021833	+	synonymous_variant	Silent	SNP	G	G	A	rs1213675363	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	12	90	0	ENST00000388985.4:c.1041C>T	p.Ala347=	p.A347=	ENST00000388985		347	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS53486.1	1041	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGGCTTC	NONE	.	.	PROSITE_profiles:PS51574,hmmpanther:PTHR12197:SF146,hmmpanther:PTHR12197	.	.	ENSP00000373637	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000388985	Transcript	.	.	ENSG00000185420	15513	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMYD3_HUMAN	SMYD3	HGNC	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN	.	UPI000022AFDA	SNV	SMYD3,synonymous_variant,p.%3D,ENST00000388985,;SMYD3,synonymous_variant,p.%3D,ENST00000541742,;SMYD3,synonymous_variant,p.%3D,ENST00000490107,;SMYD3,downstream_gene_variant,,ENST00000391836,;SMYD3,non_coding_transcript_exon_variant,,ENST00000488153,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470510,;SMYD3,non_coding_transcript_exon_variant,,ENST00000492487,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366517,;SMYD3,non_coding_transcript_exon_variant,,ENST00000483072,;SMYD3,non_coding_transcript_exon_variant,,ENST00000493441,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366516,;	1041	90	114	SUCCESS
USP24	23358	.	GRCh37	1	55549487	55549488	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	301	132	362	0	ENST00000294383.6:c.6839_6840insT	p.Cys2281LeufsTer18	p.C2281Lfs*18	ENST00000294383	NM_015306.2	2280	aac/aaTc	0	.	.	.	.	.	A	N/NX	protein_coding	YES	CCDS44154.2	6839-6840	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACAGTTTTT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349	.	.	ENSP00000294383	.	57/68	.	.	.	.	.	.	.	.	.	57/68	PASS	ENST00000294383	Transcript	.	.	ENSG00000162402	12623	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	insertion	USP24,frameshift_variant,p.Cys2121LeufsTer18,ENST00000407756,;USP24,frameshift_variant,p.Cys2281LeufsTer18,ENST00000294383,;USP24,non_coding_transcript_exon_variant,,ENST00000472566,;USP24,downstream_gene_variant,,ENST00000512504,;	6839-6840	362	433	SUCCESS
EFCAB7	84455	.	GRCh37	1	64038167	64038167	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs371640057	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	385	75	422	0	ENST00000371088.4:c.1870A>G	p.Ile624Val	p.I624V	ENST00000371088	NM_032437.2	624	Ata/Gta	0	G:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS30737.1	1870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTATATAT	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF138	.	G:0.0001	ENSP00000360129	.	14/14	.	.	.	.	.	.	.	.	rs371640057	14/14	PASS	ENST00000371088	Transcript	.	.	ENSG00000203965	29379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	EFCB7_HUMAN	EFCAB7	HGNC	.	.	UPI000006EAB2	SNV	EFCAB7,missense_variant,p.Ile624Val,ENST00000371088,;EFCAB7,non_coding_transcript_exon_variant,,ENST00000461039,;ITGB3BP,intron_variant,,ENST00000478138,;EFCAB7,downstream_gene_variant,,ENST00000460678,;	2116	422	461	SUCCESS
AK4	205	.	GRCh37	1	65614035	65614035	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	50	0	ENST00000327299.7:c.-56C>T		p.*19*	ENST00000327299	NM_013410.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS629.1	.	MUTECT|MUSE	.	GGCTTCCTCCG	NONE	.	.	.	.	.	ENSP00000378743	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000395334	Transcript	.	.	ENSG00000162433	363	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAD4_HUMAN	AK4	HGNC	D3DQ64_HUMAN	.	UPI000011E13C	SNV	AK4,5_prime_UTR_variant,,ENST00000327299,;AK4,5_prime_UTR_variant,,ENST00000395334,;AK4,5_prime_UTR_variant,,ENST00000545314,;AK4,intron_variant,,ENST00000546702,;AK4,non_coding_transcript_exon_variant,,ENST00000470888,;AK4,non_coding_transcript_exon_variant,,ENST00000497030,;AK4,upstream_gene_variant,,ENST00000474968,;	303	50	42	SUCCESS
SOGA1	140710	.	GRCh37	20	35431376	35431376	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	43	0	ENST00000237536.4:c.3222G>A	p.Gln1074=	p.Q1074=	ENST00000237536	NM_080627.2	1074	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS54459.1	3222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCTGCCG	NONE	.	.	hmmpanther:PTHR15742:SF1,hmmpanther:PTHR15742,Pfam_domain:PF14818	.	.	ENSP00000237536	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,synonymous_variant,p.%3D,ENST00000237536,;SOGA1,synonymous_variant,p.%3D,ENST00000279034,;SOGA1,synonymous_variant,p.%3D,ENST00000357779,;SOGA1,synonymous_variant,p.%3D,ENST00000456801,;SOGA1,synonymous_variant,p.%3D,ENST00000465671,;	3564	43	60	SUCCESS
RBL1	5933	.	GRCh37	20	35663859	35663859	+	synonymous_variant	Silent	SNP	G	G	A	rs150960998	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	20	117	0	ENST00000373664.3:c.1956C>T	p.Thr652=	p.T652=	ENST00000373664	NM_002895.3	652	acC/acT	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS13289.1	1956	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGGTAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13742:SF20,hmmpanther:PTHR13742	.	A:0.0002	ENSP00000362768	.	15/22	.	.	.	.	.	.	.	.	rs150960998	15/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,synonymous_variant,p.%3D,ENST00000373664,;RBL1,synonymous_variant,p.%3D,ENST00000344359,;	2023	117	141	SUCCESS
EMILIN3	90187	.	GRCh37	20	39990391	39990391	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	44	0	ENST00000332312.3:c.1818C>A	p.Ser606Arg	p.S606R	ENST00000332312	NM_052846.1	606	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS13316.1	1818	RADIA|MUTECT|MUSE	.	TACTGGCTGAC	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF2	.	.	ENSP00000332806	.	4/4	.	.	.	.	.	.	.	.	COSM577401	4/4	PASS	ENST00000332312	Transcript	.	.	ENSG00000183798	16123	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.545)	.	deleterious(0.01)	1	EMIL3_HUMAN	EMILIN3	HGNC	Q495S5_HUMAN	.	UPI00001D82E8	SNV	EMILIN3,missense_variant,p.Ser606Arg,ENST00000332312,;LPIN3,downstream_gene_variant,,ENST00000373257,;LPIN3,downstream_gene_variant,,ENST00000445975,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	2011	44	47	SUCCESS
KCNK15	60598	.	GRCh37	20	43378872	43378872	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754418071	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	45	0	ENST00000372861.3:c.386G>A	p.Gly129Asp	p.G129D	ENST00000372861	NM_022358.3	129	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS13337.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGCGAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF18,hmmpanther:PTHR11003,Gene3D:1.10.287.70,Pfam_domain:PF07885,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01095	.	.	ENSP00000361952	.	2/2	.	.	.	.	.	.	.	.	rs754418071	2/2	PASS	ENST00000372861	Transcript	.	.	ENSG00000124249	13814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNKF_HUMAN	KCNK15	HGNC	.	.	UPI000003EA1C	SNV	KCNK15,missense_variant,p.Gly129Asp,ENST00000372861,;RIMS4,downstream_gene_variant,,ENST00000372851,;RP11-445H22.4,upstream_gene_variant,,ENST00000445420,;RP11-445H22.4,upstream_gene_variant,,ENST00000427303,;	517	45	39	SUCCESS
PCIF1	63935	.	GRCh37	20	44576125	44576125	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	29	0	ENST00000372409.3:c.1884-38G>A		p.*628*	ENST00000372409	NM_022104.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13388.1	.	MUTECT|MUSE|VARSCANS	.	GGCCAGGCCCA	NONE	.	.	.	.	.	ENSP00000361486	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372409	Transcript	.	.	ENSG00000100982	16200	.	.	MODIFIER	16/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCIF1_HUMAN	PCIF1	HGNC	.	.	UPI000000D717	SNV	PCIF1,intron_variant,,ENST00000372409,;ZNF335,downstream_gene_variant,,ENST00000322927,;ZNF335,downstream_gene_variant,,ENST00000426788,;PCIF1,non_coding_transcript_exon_variant,,ENST00000479348,;	.	29	40	SUCCESS
ZFP64	55734	.	GRCh37	20	50782459	50782459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757850701	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	9	119	0	ENST00000216923.4:c.392G>A	p.Arg131His	p.R131H	ENST00000216923	NM_199426.1	131	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS13440.1	392	MUTECT|MUSE|VARSCANS	.	TGGTGCGTGAC	NONE	.	.	hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27	.	.	ENSP00000216923	.	3/6	.	.	.	.	.	.	.	.	rs757850701,COSM1028098,COSM1028099,COSM1028100	3/6	PASS	ENST00000216923	Transcript	.	.	ENSG00000020256	15940	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	probably_damaging(0.984)	.	tolerated(0.06)	0,1,1,1	ZF64A_HUMAN	ZFP64	HGNC	B3KQX0_HUMAN	.	UPI000006D699	SNV	ZFP64,missense_variant,p.Arg129His,ENST00000371515,;ZFP64,missense_variant,p.Arg131His,ENST00000216923,;ZFP64,missense_variant,p.Arg131His,ENST00000371518,;ZFP64,missense_variant,p.Arg131His,ENST00000361387,;ZFP64,intron_variant,,ENST00000346617,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;	742	119	103	SUCCESS
MCM3AP	8888	.	GRCh37	21	47666686	47666686	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs748236521	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	130	0	ENST00000291688.1:c.4405A>T	p.Met1469Leu	p.M1469L	ENST00000291688	NM_003906.3	1469	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS13734.1	4405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATGTCCT	NONE	byFrequency	.	hmmpanther:PTHR12436:SF18,hmmpanther:PTHR12436	.	.	ENSP00000380820	.	22/29	.	.	.	.	.	.	.	.	rs748236521	22/29	PASS	ENST00000397708	Transcript	.	.	ENSG00000160294	6946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.27)	.	GANP_HUMAN	MCM3AP	HGNC	N0GVG8_HUMAN,B3KWZ4_HUMAN	.	UPI000012ED4A	SNV	MCM3AP,missense_variant,p.Met1469Leu,ENST00000397708,;MCM3AP,missense_variant,p.Met1469Leu,ENST00000291688,;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,intron_variant,,ENST00000414659,;MCM3AP-AS1,intron_variant,,ENST00000455567,;AP001469.9,downstream_gene_variant,,ENST00000447037,;MCM3AP-AS1,downstream_gene_variant,,ENST00000591223,;MCM3AP-AS1,downstream_gene_variant,,ENST00000432735,;MCM3AP-AS1,downstream_gene_variant,,ENST00000588753,;MCM3AP-AS1,downstream_gene_variant,,ENST00000444998,;AP001469.7,upstream_gene_variant,,ENST00000444966,;MCM3AP-AS1,downstream_gene_variant,,ENST00000421927,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000467026,;MCM3AP,downstream_gene_variant,,ENST00000481113,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;	4660	130	107	SUCCESS
PI4KA	5297	.	GRCh37	22	21066826	21066826	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	57	213	0	ENST00000255882.6:c.5750A>G	p.Tyr1917Cys	p.Y1917C	ENST00000255882	NM_058004.3	1917	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33603.2	5750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGTACATG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00146,Pfam_domain:PF00454,Gene3D:1.10.1070.11,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15,PROSITE_profiles:PS50290	.	.	ENSP00000255882	.	50/55	.	.	.	.	.	.	.	.	.	50/55	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,missense_variant,p.Tyr669Cys,ENST00000414196,;PI4KA,missense_variant,p.Tyr1859Cys,ENST00000572273,;PI4KA,missense_variant,p.Tyr1917Cys,ENST00000255882,;PI4KA,missense_variant,p.Tyr252Cys,ENST00000399213,;PI4KA,non_coding_transcript_exon_variant,,ENST00000482030,;PI4KA,non_coding_transcript_exon_variant,,ENST00000492581,;PI4KA,non_coding_transcript_exon_variant,,ENST00000477245,;PI4KA,non_coding_transcript_exon_variant,,ENST00000466394,;PI4KA,non_coding_transcript_exon_variant,,ENST00000466772,;	5837	213	205	SUCCESS
ZNF280A	129025	.	GRCh37	22	22869868	22869868	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	16	104	0	ENST00000302097.3:c.87T>C	p.Asp29=	p.D29=	ENST00000302097	NM_080740.3	29	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS13800.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGATCTTC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF121	.	.	ENSP00000302855	.	2/2	.	.	.	.	.	.	.	.	COSM4102944	2/2	PASS	ENST00000302097	Transcript	.	.	ENSG00000169548	18597	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	Z280A_HUMAN	ZNF280A	HGNC	.	.	UPI000013E78F	SNV	ZNF280A,synonymous_variant,p.%3D,ENST00000302097,;snoU13,upstream_gene_variant,,ENST00000459485,;	340	104	98	SUCCESS
GGT1	2678	.	GRCh37	22	25024304	25024304	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	65	0	ENST00000248923.4:c.1512G>C	p.Leu504=	p.L504=	ENST00000248923	NM_013430.2	504	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42992.1	1512	MUTECT|MUSE	.	CGGCTGCACAA	NONE	.	.	hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF1,TIGRFAM_domain:TIGR00066,Pfam_domain:PF01019,Superfamily_domains:SSF56235	.	.	ENSP00000383232	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000400382	Transcript	.	.	ENSG00000100031	4250	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GGT1_HUMAN	GGT1	HGNC	Q9UEN9_HUMAN,Q9UEN8_HUMAN,Q6NZY2_HUMAN,O76033_HUMAN,O75693_HUMAN,E9PHP2_HUMAN,E7EVF8_HUMAN,E7ETU4_HUMAN,E7ETR7_HUMAN,E7ETN1_HUMAN,E7ETJ6_HUMAN,E7ET76_HUMAN,E7ESL5_HUMAN,E7ERN9_HUMAN,E7ENJ5_HUMAN,E7EM62_HUMAN,C9JIY6_HUMAN,C9JGF3_HUMAN	.	UPI000007080C	SNV	GGT1,synonymous_variant,p.%3D,ENST00000404532,;GGT1,synonymous_variant,p.%3D,ENST00000404920,;GGT1,synonymous_variant,p.%3D,ENST00000403838,;GGT1,synonymous_variant,p.%3D,ENST00000400380,;GGT1,synonymous_variant,p.%3D,ENST00000406383,;GGT1,synonymous_variant,p.%3D,ENST00000404223,;GGT1,synonymous_variant,p.%3D,ENST00000400383,;GGT1,synonymous_variant,p.%3D,ENST00000248923,;GGT1,synonymous_variant,p.%3D,ENST00000401885,;GGT1,synonymous_variant,p.%3D,ENST00000400382,;GGT1,downstream_gene_variant,,ENST00000412658,;GGT1,non_coding_transcript_exon_variant,,ENST00000490087,;GGT1,non_coding_transcript_exon_variant,,ENST00000466310,;GGT1,3_prime_UTR_variant,,ENST00000425895,;BCRP3,upstream_gene_variant,,ENST00000447261,;	2267	65	79	SUCCESS
CRYBA4	1413	.	GRCh37	22	27026303	27026303	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs751386235	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	50	0	ENST00000354760.3:c.444-1G>A		p.X148_splice	ENST00000354760	NM_001886.2	148		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGCTGGG	NONE	.	.	.	.	.	ENSP00000346805	.	.	.	.	.	.	.	.	.	.	rs751386235	.	PASS	ENST00000354760	Transcript	.	.	ENSG00000196431	2396	.	.	HIGH	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRBA4_HUMAN	CRYBA4	HGNC	.	.	UPI0000167B21	SNV	CRYBA4,splice_acceptor_variant,,ENST00000354760,;CRYBA4,splice_acceptor_variant,,ENST00000466315,;	.	50	51	SUCCESS
SBF1	6305	.	GRCh37	22	50905841	50905841	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	24	197	0	ENST00000380817.3:c.475G>A	p.Gly159Ser	p.G159S	ENST00000380817	NM_002972.2	159	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS14091.2	475	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCCTCCA	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000370196	.	5/41	.	.	.	.	.	.	.	.	.	5/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	tolerated(0.71)	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,missense_variant,p.Gly159Ser,ENST00000390679,;SBF1,missense_variant,p.Gly160Ser,ENST00000348911,;SBF1,missense_variant,p.Gly159Ser,ENST00000380817,;SBF1,non_coding_transcript_exon_variant,,ENST00000399627,;SBF1,upstream_gene_variant,,ENST00000477234,;	659	197	182	SUCCESS
RGPD4	285190	.	GRCh37	2	108499228	108499228	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	566	149	947	0	ENST00000408999.3:c.5165T>C	p.Phe1722Ser	p.F1722S	ENST00000408999	NM_182588.2	1722	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS46381.1	5165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTCTTGA	NONE	.	.	PROSITE_profiles:PS50913,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF01465,Gene3D:1uptF00,SMART_domains:SM00755	.	.	ENSP00000386810	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious_low_confidence(0)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Phe1722Ser,ENST00000408999,;RGPD4,missense_variant,p.Phe1722Ser,ENST00000354986,;	5242	947	715	SUCCESS
CBWD2	150472	.	GRCh37	2	114195345	114195345	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs566995872	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	30	189	0	ENST00000259199.4:c.-101G>A		p.*34*	ENST00000259199	NM_172003.3			0	.	C:0	.	C:0.0014	.	A	.	protein_coding	YES	CCDS2116.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGCCCCG	NONE	by1000G	.	.	C:0	.	ENSP00000259199	C:0	1/15	.	.	.	.	.	.	.	.	rs566995872	1/15	PASS	ENST00000259199	Transcript	.	C:0.0002	ENSG00000136682	17907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	CBWD2_HUMAN	CBWD2	HGNC	.	.	UPI000007478B	SNV	CBWD2,5_prime_UTR_variant,,ENST00000416503,;CBWD2,5_prime_UTR_variant,,ENST00000433343,;CBWD2,5_prime_UTR_variant,,ENST00000259199,;RP11-480C16.1,downstream_gene_variant,,ENST00000608834,;CBWD2,upstream_gene_variant,,ENST00000490323,;CBWD2,upstream_gene_variant,,ENST00000456188,;CBWD2,upstream_gene_variant,,ENST00000358604,;CBWD2,upstream_gene_variant,,ENST00000492566,;CBWD2,upstream_gene_variant,,ENST00000463627,;	78	189	153	SUCCESS
BIN1	274	.	GRCh37	2	127806198	127806198	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	90	0	ENST00000316724.5:c.1686G>A	p.Trp562Ter	p.W562*	ENST00000316724	NM_139343.2	562	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS2138.1	1686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGCCAGCC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10321:SF24,hmmpanther:PTHR10321,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000316779	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000316724	Transcript	.	.	ENSG00000136717	1052	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIN1_HUMAN	BIN1	HGNC	.	.	UPI0000001303	SNV	BIN1,stop_gained,p.Trp475Ter,ENST00000351659,;BIN1,stop_gained,p.Trp562Ter,ENST00000316724,;BIN1,stop_gained,p.Trp444Ter,ENST00000393041,;BIN1,stop_gained,p.Trp451Ter,ENST00000393040,;BIN1,stop_gained,p.Trp378Ter,ENST00000348750,;BIN1,stop_gained,p.Trp519Ter,ENST00000357970,;BIN1,stop_gained,p.Trp487Ter,ENST00000346226,;BIN1,stop_gained,p.Trp408Ter,ENST00000409400,;BIN1,stop_gained,p.Trp466Ter,ENST00000259238,;BIN1,stop_gained,p.Trp423Ter,ENST00000352848,;BIN1,stop_gained,p.Trp393Ter,ENST00000376113,;BIN1,downstream_gene_variant,,ENST00000484253,;BIN1,downstream_gene_variant,,ENST00000466111,;BIN1,non_coding_transcript_exon_variant,,ENST00000462958,;	2098	90	82	SUCCESS
IWS1	55677	.	GRCh37	2	128262855	128262855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	29	151	0	ENST00000295321.4:c.624G>T	p.Met208Ile	p.M208I	ENST00000295321	NM_017969.2	208	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2146.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTCATTCG	NONE	.	.	hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908	.	.	ENSP00000295321	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.22)	.	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,missense_variant,p.Met208Ile,ENST00000295321,;IWS1,missense_variant,p.Met215Ile,ENST00000455721,;IWS1,missense_variant,p.Met213Ile,ENST00000409725,;AC010976.2,intron_variant,,ENST00000599001,;IWS1,non_coding_transcript_exon_variant,,ENST00000495369,;IWS1,non_coding_transcript_exon_variant,,ENST00000486662,;IWS1,non_coding_transcript_exon_variant,,ENST00000479083,;IWS1,downstream_gene_variant,,ENST00000460511,;IWS1,downstream_gene_variant,,ENST00000436740,;IWS1,downstream_gene_variant,,ENST00000483889,;IWS1,downstream_gene_variant,,ENST00000478949,;IWS1,upstream_gene_variant,,ENST00000497888,;	884	151	141	SUCCESS
POTEE	445582	.	GRCh37	2	131976218	131976218	+	synonymous_variant	Silent	SNP	C	C	A	rs766965304	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	109	1	ENST00000356920.5:c.243C>A	p.Gly81=	p.G81=	ENST00000356920	NM_001083538.1	81	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46414.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGCTTC	CODON|p.A82T|c.244G>A|3,CODON|p.A82T|c.244G>A|3	byFrequency	.	hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118	.	.	ENSP00000439189	.	1/15	.	.	.	.	.	.	.	.	rs766965304	1/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,synonymous_variant,p.%3D,ENST00000356920,;POTEE,synonymous_variant,p.%3D,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,intron_variant,,ENST00000514256,;	337	110	95	SUCCESS
EVX2	344191	.	GRCh37	2	176945497	176945497	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	30	0	ENST00000308618.4:c.769G>A	p.Asp257Asn	p.D257N	ENST00000308618	NM_001080458.1	257	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33333.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCGGCTG	NONE	.	.	hmmpanther:PTHR24329:SF289,hmmpanther:PTHR24329	.	.	ENSP00000312385	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308618	Transcript	.	.	ENSG00000174279	3507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	deleterious(0.01)	.	EVX2_HUMAN	EVX2	HGNC	.	.	UPI000012A2AF	SNV	EVX2,missense_variant,p.Asp257Asn,ENST00000308618,;	906	30	15	SUCCESS
TTN	7273	.	GRCh37	2	179410949	179410949	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	52	0	ENST00000591111.1:c.90186C>T	p.Val30062=	p.V30062=	ENST00000591111		30062	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS59435.1	95109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGACCAT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	342/363	.	.	.	.	.	.	.	.	.	342/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;	95334	52	66	SUCCESS
TTN	7273	.	GRCh37	2	179431181	179431181	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs994825543	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	77	0	ENST00000591111.1:c.74755A>G	p.Lys24919Glu	p.K24919E	ENST00000591111		24919	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS59435.1	79678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTATACT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	COSM230498,COSM230499,COSM230497,COSM230500	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys17620Glu,ENST00000359218,;TTN,missense_variant,p.Lys24919Glu,ENST00000591111,;TTN,missense_variant,p.Lys26560Glu,ENST00000589042,;TTN,missense_variant,p.Lys17687Glu,ENST00000342175,;TTN,missense_variant,p.Lys23992Glu,ENST00000342992,;TTN,missense_variant,p.Lys17495Glu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	79903	77	43	SUCCESS
ZNF385B	151126	.	GRCh37	2	180307996	180307996	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	35	0	ENST00000410066.1:c.1397T>C	p.Ile466Thr	p.I466T	ENST00000410066	NM_152520.4	466	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS33339.1	1397	MUSE|VARSCANS	.	AGAGGATGGAG	NONE	.	.	hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067	.	.	ENSP00000386845	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,missense_variant,p.Ile364Thr,ENST00000409692,;ZNF385B,missense_variant,p.Ile390Thr,ENST00000409343,;ZNF385B,missense_variant,p.Ile466Thr,ENST00000410066,;ZNF385B,missense_variant,p.Ile364Thr,ENST00000336917,;ZNF385B,downstream_gene_variant,,ENST00000457304,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,downstream_gene_variant,,ENST00000469551,;ZNF385B,downstream_gene_variant,,ENST00000475539,;	2001	35	35	SUCCESS
ZNF385B	151126	.	GRCh37	2	180308145	180308145	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	43	0	ENST00000410066.1:c.1248C>G	p.Phe416Leu	p.F416L	ENST00000410066	NM_152520.4	416	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS33339.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGAAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067	.	.	ENSP00000386845	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.21)	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,missense_variant,p.Phe314Leu,ENST00000409692,;ZNF385B,missense_variant,p.Phe340Leu,ENST00000409343,;ZNF385B,missense_variant,p.Phe416Leu,ENST00000410066,;ZNF385B,missense_variant,p.Phe314Leu,ENST00000336917,;ZNF385B,downstream_gene_variant,,ENST00000457304,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,downstream_gene_variant,,ENST00000469551,;ZNF385B,downstream_gene_variant,,ENST00000475539,;	1852	43	18	SUCCESS
STAT4	6775	.	GRCh37	2	192011406	192011406	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	12	88	0	ENST00000358470.4:c.206G>T	p.Gly69Val	p.G69V	ENST00000358470	NM_001243835.1	69	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2310.1	206	RADIA|MUTECT|MUSE|VARSCANS	.	CACGACCTAAC	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Pfam_domain:PF02865,Gene3D:1bgfA00,SMART_domains:SM00964,Superfamily_domains:0035539	.	.	ENSP00000376134	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000392320	Transcript	.	.	ENSG00000138378	11365	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.774)	.	deleterious(0.02)	.	STAT4_HUMAN	STAT4	HGNC	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN	.	UPI00000015F2	SNV	STAT4,missense_variant,p.Gly69Val,ENST00000358470,;STAT4,missense_variant,p.Gly69Val,ENST00000392320,;STAT4,missense_variant,p.Gly69Val,ENST00000450994,;STAT4,missense_variant,p.Gly69Val,ENST00000409995,;STAT4,missense_variant,p.Gly42Val,ENST00000413064,;STAT4,downstream_gene_variant,,ENST00000432798,;STAT4,non_coding_transcript_exon_variant,,ENST00000495326,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;	521	88	95	SUCCESS
PUM2	23369	.	GRCh37	2	20454712	20454712	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	44	211	0	ENST00000338086.5:c.2782C>T	p.Leu928=	p.L928=	ENST00000338086	NM_015317.1	928	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1698.1	2782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGTACAT	NONE	.	.	PROSITE_profiles:PS50303,PROSITE_profiles:PS50302,hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537,Pfam_domain:PF00806,Gene3D:1.25.10.10,SMART_domains:SM00025,Superfamily_domains:SSF48371	.	.	ENSP00000338173	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000338086	Transcript	.	.	ENSG00000055917	14958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUM2_HUMAN	PUM2	HGNC	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN	.	UPI0000001665	SNV	PUM2,synonymous_variant,p.%3D,ENST00000403432,;PUM2,synonymous_variant,p.%3D,ENST00000319801,;PUM2,synonymous_variant,p.%3D,ENST00000338086,;PUM2,synonymous_variant,p.%3D,ENST00000440577,;PUM2,synonymous_variant,p.%3D,ENST00000536417,;PUM2,synonymous_variant,p.%3D,ENST00000361078,;	2805	211	192	SUCCESS
SLC11A1	6556	.	GRCh37	2	219254739	219254739	+	synonymous_variant	Silent	SNP	C	C	T	rs770089691	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	74	0	ENST00000233202.6:c.942C>T	p.Thr314=	p.T314=	ENST00000233202	NM_000578.3	314	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2415.1	942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCAACCA	NONE	.	.	HAMAP:MF_00221,hmmpanther:PTHR11706:SF36,hmmpanther:PTHR11706,Pfam_domain:PF01566,TIGRFAM_domain:TIGR01197	.	.	ENSP00000233202	.	9/15	.	.	.	.	.	.	.	.	rs770089691	9/15	PASS	ENST00000233202	Transcript	.	.	ENSG00000018280	10907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRAM1_HUMAN	SLC11A1	HGNC	Q8NDV6_HUMAN	.	UPI0000130520	SNV	SLC11A1,synonymous_variant,p.%3D,ENST00000233202,;SLC11A1,synonymous_variant,p.%3D,ENST00000539932,;SLC11A1,downstream_gene_variant,,ENST00000481524,;SLC11A1,downstream_gene_variant,,ENST00000486451,;SLC11A1,downstream_gene_variant,,ENST00000473367,;SLC11A1,3_prime_UTR_variant,,ENST00000354352,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000490872,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000468221,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000465984,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000494322,;SLC11A1,upstream_gene_variant,,ENST00000468721,;SLC11A1,downstream_gene_variant,,ENST00000471875,;SLC11A1,downstream_gene_variant,,ENST00000469799,;SLC11A1,downstream_gene_variant,,ENST00000492413,;SLC11A1,upstream_gene_variant,,ENST00000490536,;SLC11A1,downstream_gene_variant,,ENST00000469449,;SLC11A1,downstream_gene_variant,,ENST00000475225,;SLC11A1,downstream_gene_variant,,ENST00000460592,;SLC11A1,downstream_gene_variant,,ENST00000483487,;	1282	74	73	SUCCESS
GTF3C2	2976	.	GRCh37	2	27559284	27559284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	81	0	ENST00000264720.3:c.1136C>T	p.Ser379Leu	p.S379L	ENST00000264720	NM_001035521.2	379	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1749.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	TGATCGAGCTA	NONE	.	.	hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2	.	.	ENSP00000352536	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000359541	Transcript	.	.	ENSG00000115207	4665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	TF3C2_HUMAN	GTF3C2	HGNC	Q53SY8_HUMAN,Q53QN0_HUMAN,C9JQ12_HUMAN,C9JNH7_HUMAN	.	UPI0000074025	SNV	GTF3C2,missense_variant,p.Ser379Leu,ENST00000359541,;GTF3C2,missense_variant,p.Ser379Leu,ENST00000264720,;GTF3C2,upstream_gene_variant,,ENST00000454704,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000416453,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000585326,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000592265,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000608473,;AC109828.1,upstream_gene_variant,,ENST00000589853,;AC109828.1,upstream_gene_variant,,ENST00000585645,;AC109828.1,upstream_gene_variant,,ENST00000588707,;AC109828.1,upstream_gene_variant,,ENST00000590754,;AC109828.1,upstream_gene_variant,,ENST00000587586,;AC109828.1,upstream_gene_variant,,ENST00000589232,;AC109828.1,upstream_gene_variant,,ENST00000590383,;GTF3C2,non_coding_transcript_exon_variant,,ENST00000470115,;GTF3C2,non_coding_transcript_exon_variant,,ENST00000493511,;GTF3C2,non_coding_transcript_exon_variant,,ENST00000480989,;	1566	81	58	SUCCESS
SOX11	6664	.	GRCh37	2	5834087	5834087	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	53	1	ENST00000322002.3:c.1234G>T	p.Glu412Ter	p.E412*	ENST00000322002	NM_003108.3	412	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS1654.1	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGAGTTC	NONE	.	.	hmmpanther:PTHR10270:SF113,hmmpanther:PTHR10270,PIRSF_domain:PIRSF038098	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	COSM35844	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,stop_gained,p.Glu412Ter,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	1289	54	66	SUCCESS
CNRIP1	25927	.	GRCh37	2	68544207	68544207	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	26	137	1	ENST00000263655.3:c.330+82T>C		p.*110*	ENST00000263655	NM_015463.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1886.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTACAGAG	NONE	.	.	.	.	.	ENSP00000263655	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263655	Transcript	.	.	ENSG00000119865	24546	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNRP1_HUMAN	CNRIP1	HGNC	.	.	UPI0000070FBE	SNV	CNRIP1,stop_lost,p.Ter138GlnextTer29,ENST00000409862,;CNRIP1,intron_variant,,ENST00000409559,;CNRIP1,intron_variant,,ENST00000263655,;CNRIP1,intron_variant,,ENST00000481714,;	.	138	133	SUCCESS
GPR128	0	.	GRCh37	3	100328724	100328724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	172	0	ENST00000273352.3:c.24C>A	p.Asn8Lys	p.N8K	ENST00000273352	NM_032787.2	8	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2938.1	24	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACCTTAG	BUFFER|p.R5G|c.13C>G|3	.	.	.	.	.	ENSP00000273352	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000273352	Transcript	.	.	ENSG00000144820	19241	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.466)	.	deleterious(0.03)	.	GP128_HUMAN	GPR128	HGNC	Q6ZMH0_HUMAN	.	UPI000004B6DF	SNV	GPR128,missense_variant,p.Asn8Lys,ENST00000273352,;	292	172	145	SUCCESS
NXPE3	91775	.	GRCh37	3	101540508	101540508	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762578763	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	71	0	ENST00000273347.5:c.1390C>T	p.Arg464Cys	p.R464C	ENST00000273347	NM_145037.2	464	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2945.1	1390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCGTCGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16165:SF1,hmmpanther:PTHR16165	.	.	ENSP00000396421	.	5/5	.	.	.	.	.	.	.	.	rs762578763	5/5	PASS	ENST00000422132	Transcript	.	.	ENSG00000144815	28238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NXPE3_HUMAN	NXPE3	HGNC	C9K0A9_HUMAN	.	UPI000006D090	SNV	NXPE3,missense_variant,p.Arg464Cys,ENST00000491511,;NXPE3,missense_variant,p.Arg464Cys,ENST00000422132,;NXPE3,missense_variant,p.Arg464Cys,ENST00000273347,;NXPE3,missense_variant,p.Arg464Cys,ENST00000477909,;RP11-49I4.3,downstream_gene_variant,,ENST00000490324,;	1587	71	52	SUCCESS
STXBP5L	9515	.	GRCh37	3	120959330	120959330	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764116141	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	35	0	ENST00000273666.6:c.1376C>G	p.Thr459Arg	p.T459R	ENST00000273666	NM_014980.2	459	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS43137.1	1376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACATATC	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978	.	.	ENSP00000273666	.	14/28	.	.	.	.	.	.	.	.	rs764116141	14/28	PASS	ENST00000273666	Transcript	.	.	ENSG00000145087	30757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	STB5L_HUMAN	STXBP5L	HGNC	C9JUZ7_HUMAN	.	UPI00001C1DEA	SNV	STXBP5L,missense_variant,p.Thr459Arg,ENST00000471262,;STXBP5L,missense_variant,p.Thr459Arg,ENST00000472879,;STXBP5L,missense_variant,p.Thr459Arg,ENST00000273666,;STXBP5L,missense_variant,p.Thr459Arg,ENST00000471454,;STXBP5L,missense_variant,p.Thr459Arg,ENST00000492541,;STXBP5L,missense_variant,p.Thr459Arg,ENST00000497029,;	1647	35	30	SUCCESS
RYK	6259	.	GRCh37	3	133921638	133921638	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	27	120	0	ENST00000296084.4:c.718C>G	p.Leu240Val	p.L240V	ENST00000296084	NM_001005861.2	240	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	.	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGAGAAATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF256	.	.	ENSP00000296084	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000296084	Transcript	.	.	ENSG00000163785	10481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.31)	.	RYK_HUMAN	RYK	HGNC	Q8WTZ8_HUMAN,F5H8L5_HUMAN	.	UPI00015E08D8	SNV	RYK,missense_variant,p.Leu240Val,ENST00000296084,;RYK,missense_variant,p.Leu50Val,ENST00000427044,;RYK,missense_variant,p.Leu222Val,ENST00000460933,;RYK,non_coding_transcript_exon_variant,,ENST00000464879,;	718	120	154	SUCCESS
SCN10A	6336	.	GRCh37	3	38739071	38739071	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	77	1	ENST00000449082.2:c.5640C>A	p.Pro1880=	p.P1880=	ENST00000449082	NM_006514.2	1880	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33736.1	5640	RADIA|MUTECT|VARSCANS	.	GCTCTGGGCAC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,synonymous_variant,p.%3D,ENST00000449082,;	5640	78	89	SUCCESS
FYCO1	79443	.	GRCh37	3	46006599	46006599	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	21	0	ENST00000296137.2:c.3076A>G	p.Lys1026Glu	p.K1026E	ENST00000296137	NM_024513.3	1026	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS2734.1	3076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTGCACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851	.	.	ENSP00000296137	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,missense_variant,p.Lys1026Glu,ENST00000296137,;FYCO1,missense_variant,p.Lys1026Glu,ENST00000535325,;	3282	21	27	SUCCESS
BAP1	8314	.	GRCh37	3	52441263	52441263	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	79	0	ENST00000460680.1:c.507C>G	p.His169Gln	p.H169Q	ENST00000460680	NM_004656.3	169	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS2853.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAGTGGAA	SITE|p.H169Q|c.507C>G|3,BUFFER|p.S172R|c.516C>G|4	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	7/17	.	.	.	.	.	.	.	.	COSM51976	7/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,missense_variant,p.His169Gln,ENST00000296288,;BAP1,missense_variant,p.His169Gln,ENST00000460680,;BAP1,missense_variant,p.His90Gln,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,3_prime_UTR_variant,,ENST00000490917,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;BAP1,intron_variant,,ENST00000483984,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	979	79	52	SUCCESS
SLC39A8	64116	.	GRCh37	4	103225548	103225548	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	100	0	ENST00000356736.4:c.766T>A	p.Cys256Ser	p.C256S	ENST00000356736	NM_001135146.1	256	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS3656.1	766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCATGTCA	NONE	.	.	hmmpanther:PTHR12191:SF2,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000378310	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000394833	Transcript	.	.	ENSG00000138821	20862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.64)	.	S39A8_HUMAN	SLC39A8	HGNC	.	.	UPI0000046C4E	SNV	SLC39A8,missense_variant,p.Cys256Ser,ENST00000356736,;SLC39A8,missense_variant,p.Cys256Ser,ENST00000394833,;SLC39A8,missense_variant,p.Cys256Ser,ENST00000424970,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000512337,;SLC39A8,downstream_gene_variant,,ENST00000512657,;SLC39A8,downstream_gene_variant,,ENST00000502903,;SLC39A8,downstream_gene_variant,,ENST00000514000,;SLC39A8,downstream_gene_variant,,ENST00000510255,;	1243	100	104	SUCCESS
PTTG2	10744	.	GRCh37	4	37962607	37962607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	66	0	ENST00000504686.1:c.552G>T	p.Lys184Asn	p.K184N	ENST00000504686	NM_006607.2	184	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS54755.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGCATTC	NONE	.	.	.	.	.	ENSP00000424261	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504686	Transcript	.	.	ENSG00000250254	9691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.19)	.	PTTG2_HUMAN	PTTG2	HGNC	.	.	UPI000020AF94	SNV	PTTG2,missense_variant,p.Lys184Asn,ENST00000504686,;TBC1D1,intron_variant,,ENST00000261439,;TBC1D1,intron_variant,,ENST00000508802,;TBC1D1,intron_variant,,ENST00000510573,;AC021106.1,non_coding_transcript_exon_variant,,ENST00000455272,;	552	66	61	SUCCESS
PARM1	25849	.	GRCh37	4	75971416	75971416	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	129	0	ENST00000307428.7:c.892T>C	p.Ser298Pro	p.S298P	ENST00000307428	NM_015393.3	298	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47077.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGTCCTGG	NONE	.	.	.	.	.	ENSP00000370224	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000307428	Transcript	.	.	ENSG00000169116	24536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PARM1_HUMAN	PARM1	HGNC	.	.	UPI000004457B	SNV	PARM1,missense_variant,p.Ser298Pro,ENST00000307428,;PARM1,missense_variant,p.Ser56Pro,ENST00000513238,;	1104	129	99	SUCCESS
DSPP	1834	.	GRCh37	4	88534393	88534393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	29	145	0	ENST00000282478.7:c.1055G>T	p.Ser352Ile	p.S352I	ENST00000282478		352	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43248.1	1055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGCAAAC	BUFFER|p.R354H|c.1061G>A|3	.	.	.	.	.	ENSP00000382213	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,missense_variant,p.Ser352Ile,ENST00000282478,;DSPP,missense_variant,p.Ser352Ile,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	1175	145	117	SUCCESS
TCF7	6932	.	GRCh37	5	133473769	133473769	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757866191	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	33	146	0	ENST00000342854.5:c.461C>A	p.Pro154His	p.P154H	ENST00000342854	NM_003202.3	154	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS4169.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCCCACG	NONE	byFrequency	.	hmmpanther:PTHR10373:SF33,hmmpanther:PTHR10373,Pfam_domain:PF08347	.	.	ENSP00000340347	.	4/10	.	.	.	.	.	.	.	.	rs757866191	4/10	PASS	ENST00000342854	Transcript	.	.	ENSG00000081059	11639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	deleterious(0.04)	.	TCF7_HUMAN	TCF7	HGNC	E5RJ51_HUMAN,E5RG75_HUMAN,B3KQ75_HUMAN	.	UPI000006230C	SNV	TCF7,missense_variant,p.Pro14His,ENST00000519037,;TCF7,missense_variant,p.Pro39His,ENST00000432532,;TCF7,missense_variant,p.Pro39His,ENST00000518887,;TCF7,missense_variant,p.Pro154His,ENST00000321584,;TCF7,missense_variant,p.Pro154His,ENST00000321603,;TCF7,missense_variant,p.Pro154His,ENST00000342854,;TCF7,missense_variant,p.Pro154His,ENST00000378564,;TCF7,missense_variant,p.Pro39His,ENST00000522375,;TCF7,missense_variant,p.Pro39His,ENST00000521639,;TCF7,missense_variant,p.Pro39His,ENST00000395023,;TCF7,missense_variant,p.Pro39His,ENST00000517851,;TCF7,missense_variant,p.Pro39His,ENST00000518915,;TCF7,missense_variant,p.Pro39His,ENST00000520958,;TCF7,missense_variant,p.Pro39His,ENST00000378560,;TCF7,missense_variant,p.Pro154His,ENST00000395029,;TCF7,upstream_gene_variant,,ENST00000517799,;TCF7,upstream_gene_variant,,ENST00000517855,;TCF7,upstream_gene_variant,,ENST00000520699,;TCF7,upstream_gene_variant,,ENST00000517478,;TCF7,missense_variant,p.Pro57Thr,ENST00000519447,;TCF7,missense_variant,p.Pro33His,ENST00000520652,;TCF7,missense_variant,p.Pro57Thr,ENST00000517741,;TCF7,non_coding_transcript_exon_variant,,ENST00000521970,;TCF7,non_coding_transcript_exon_variant,,ENST00000522653,;TCF7,non_coding_transcript_exon_variant,,ENST00000519165,;TCF7,upstream_gene_variant,,ENST00000524342,;TCF7,upstream_gene_variant,,ENST00000522561,;TCF7,upstream_gene_variant,,ENST00000519238,;	657	146	177	SUCCESS
REEP2	51308	.	GRCh37	5	137780127	137780127	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	42	0	ENST00000254901.5:c.206A>C	p.Lys69Thr	p.K69T	ENST00000254901		69	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS4205.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAAGATCG	NONE	.	.	hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF29,Pfam_domain:PF03134	.	.	ENSP00000254901	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000254901	Transcript	1	.	ENSG00000132563	17975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	REEP2_HUMAN	REEP2	HGNC	B4DE60_HUMAN	.	UPI00001BD945	SNV	REEP2,missense_variant,p.Lys69Thr,ENST00000378339,;REEP2,missense_variant,p.Lys107Thr,ENST00000512126,;REEP2,missense_variant,p.Lys31Thr,ENST00000506158,;REEP2,missense_variant,p.Lys69Thr,ENST00000254901,;REEP2,downstream_gene_variant,,ENST00000464751,;REEP2,3_prime_UTR_variant,,ENST00000507511,;REEP2,non_coding_transcript_exon_variant,,ENST00000507635,;REEP2,non_coding_transcript_exon_variant,,ENST00000510467,;REEP2,non_coding_transcript_exon_variant,,ENST00000503379,;REEP2,upstream_gene_variant,,ENST00000504163,;	328	42	61	SUCCESS
DNAH5	1767	.	GRCh37	5	13866359	13866359	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	30	176	0	ENST00000265104.4:c.4086G>A	p.Gln1362=	p.Q1362=	ENST00000265104	NM_001369.2	1362	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS3882.1	4086	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTGGGG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	26/79	.	.	.	.	.	.	.	.	.	26/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;CTB-51A17.1,intron_variant,,ENST00000503244,;	4191	176	236	SUCCESS
PCDHA8	56140	.	GRCh37	5	140221574	140221574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	8	122	0	ENST00000531613.1:c.668C>A	p.Thr223Lys	p.T223K	ENST00000531613	NM_018911.2	223	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS54919.1	668	MUTECT|MUSE	.	GCTCACAGGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.163)	.	deleterious_low_confidence(0.01)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Thr223Lys,ENST00000531613,;PCDHA8,missense_variant,p.Thr223Lys,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	668	122	126	SUCCESS
CDH9	1007	.	GRCh37	5	26881302	26881302	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs754868609	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	112	0	ENST00000231021.4:c.2313del	p.Pro772LeufsTer23	p.P772Lfs*23	ENST00000231021	NM_016279.3	771	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS3893.1	2313	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGAGGCCCCCA	NONE	byFrequency	.	Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	rs754868609	12/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	deletion	CDH9,frameshift_variant,p.Pro772LeufsTer23,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2486	112	92	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79734325	79734325	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	23	182	0	ENST00000338008.5:c.1821T>C	p.Asn607=	p.N607=	ENST00000338008	NM_014733.3	607	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS4050.1	1821	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATGGCCT	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43,PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,synonymous_variant,p.%3D,ENST00000338008,;ZFYVE16,synonymous_variant,p.%3D,ENST00000505560,;ZFYVE16,synonymous_variant,p.%3D,ENST00000510158,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,upstream_gene_variant,,ENST00000511829,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000509558,;	2001	182	199	SUCCESS
RPS23	6228	.	GRCh37	5	81573513	81573514	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	93	0	ENST00000296674.8:c.162dup	p.Val55SerfsTer4	p.V55Sfs*4	ENST00000296674	NM_001025.4	54	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS47241.1	162-163	INDELOCATOR*|VARSCANI*|PINDEL	.	TTACACTTTTT	NONE	.	.	Superfamily_domains:SSF50249,PIRSF_domain:PIRSF002133,TIGRFAM_domain:TIGR00982,Pfam_domain:PF00164,Gene3D:2.40.50.140,hmmpanther:PTHR11652	.	.	ENSP00000296674	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000296674	Transcript	.	.	ENSG00000186468	10410	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RS23_HUMAN	RPS23	HGNC	D6RDJ2_HUMAN,A8K517_HUMAN	.	UPI00000040B1	insertion	RPS23,frameshift_variant,p.Val55SerfsTer4,ENST00000507980,;RPS23,frameshift_variant,p.Val55SerfsTer4,ENST00000510210,;RPS23,frameshift_variant,p.Val55SerfsTer4,ENST00000296674,;RPS23,frameshift_variant,p.Val55SerfsTer4,ENST00000510019,;RPS23,frameshift_variant,p.Val55SerfsTer14,ENST00000511844,;RPS23,frameshift_variant,p.Val55SerfsTer4,ENST00000512493,;ATP6AP1L,upstream_gene_variant,,ENST00000380167,;RPS23,splice_region_variant,,ENST00000503605,;ATG10,downstream_gene_variant,,ENST00000514253,;ATG10,downstream_gene_variant,,ENST00000508814,;RPS23,splice_region_variant,,ENST00000504293,;	416-417	93	116	SUCCESS
RFESD	317671	.	GRCh37	5	94988816	94988816	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	44	0	ENST00000311364.4:c.-2+781T>G		p.*1*	ENST00000311364	NM_173362.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47248.1	.	MUTECT|MUSE	.	CTTCTTTCAGT	NONE	.	.	.	.	.	ENSP00000413592	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458310	Transcript	.	.	ENSG00000175449	29587	.	.	LOW	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFESD_HUMAN	RFESD	HGNC	D6RBY0_HUMAN	.	UPI000066D9FA	SNV	RFESD,splice_region_variant,,ENST00000458310,;RFESD,splice_region_variant,,ENST00000380005,;RFESD,intron_variant,,ENST00000311364,;RFESD,intron_variant,,ENST00000511684,;RFESD,upstream_gene_variant,,ENST00000513950,;SPATA9,non_coding_transcript_exon_variant,,ENST00000477047,;RFESD,upstream_gene_variant,,ENST00000508206,;SPATA9,3_prime_UTR_variant,,ENST00000316087,;SPATA9,3_prime_UTR_variant,,ENST00000477715,;RFESD,downstream_gene_variant,,ENST00000506212,;RFESD,downstream_gene_variant,,ENST00000504893,;	.	44	42	SUCCESS
UTRN	7402	.	GRCh37	6	144875994	144875994	+	synonymous_variant	Silent	SNP	C	C	A	rs375508056	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	100	0	ENST00000367545.3:c.7099C>A	p.Arg2367=	p.R2367=	ENST00000367545	NM_007124.2	2367	Cgg/Agg	0	T:0	.	.	.	.	A	R	protein_coding	YES	CCDS34547.1	7099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGACGGGAT	NONE	byCluster	.	hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	T:0.0001	ENSP00000356515	.	48/74	.	.	.	.	.	.	.	.	rs375508056	48/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,synonymous_variant,p.%3D,ENST00000367545,;	7099	100	83	SUCCESS
ABCF1	23	.	GRCh37	6	30557649	30557649	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	66	0	ENST00000326195.8:c.2131C>T	p.Leu711=	p.L711=	ENST00000326195	NM_001025091.1	711	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34380.1	2131	RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCTGCAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF14,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000313603	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000326195	Transcript	.	.	ENSG00000204574	70	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCF1_HUMAN	ABCF1	HGNC	F5GYK6_HUMAN	.	UPI0000141876	SNV	ABCF1,synonymous_variant,p.%3D,ENST00000326195,;ABCF1,synonymous_variant,p.%3D,ENST00000376545,;ABCF1,splice_region_variant,,ENST00000396515,;ABCF1,synonymous_variant,p.%3D,ENST00000475993,;ABCF1,non_coding_transcript_exon_variant,,ENST00000479542,;	2243	66	86	SUCCESS
KCNK16	83795	.	GRCh37	6	39286882	39286882	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	38	0	ENST00000373229.5:c.241G>A	p.Val81Met	p.V81M	ENST00000373229	NM_032115.3	81	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS47421.1	241	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCACACCTT	NONE	.	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF56	.	.	ENSP00000391498	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000425054	Transcript	.	.	ENSG00000095981	14464	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	KCNKG_HUMAN	KCNK16	HGNC	.	.	UPI00006838F1	SNV	KCNK16,missense_variant,p.Val81Met,ENST00000425054,;KCNK16,missense_variant,p.Val81Met,ENST00000373227,;KCNK16,missense_variant,p.Val81Met,ENST00000437525,;KCNK16,missense_variant,p.Val16Met,ENST00000507712,;KCNK16,missense_variant,p.Val81Met,ENST00000373229,;KCNK17,upstream_gene_variant,,ENST00000373231,;KCNK17,upstream_gene_variant,,ENST00000453413,;KCNK17,upstream_gene_variant,,ENST00000503878,;	241	38	32	SUCCESS
DST	667	.	GRCh37	6	56341127	56341127	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	62	0	ENST00000244364.6:c.13815C>T	p.Ala4605=	p.A4605=	ENST00000244364	NM_015548.4	4605	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47443.1	13815	SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGCCAG	NONE	.	.	Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	73/84	.	.	.	.	.	.	.	.	.	73/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,synonymous_variant,p.%3D,ENST00000446842,;DST,synonymous_variant,p.%3D,ENST00000370788,;DST,synonymous_variant,p.%3D,ENST00000244364,;DST,synonymous_variant,p.%3D,ENST00000370754,;DST,synonymous_variant,p.%3D,ENST00000361203,;DST,synonymous_variant,p.%3D,ENST00000370769,;DST,synonymous_variant,p.%3D,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000523943,;DST,non_coding_transcript_exon_variant,,ENST00000517840,;DST,upstream_gene_variant,,ENST00000492944,;	14023	62	60	SUCCESS
CD109	135228	.	GRCh37	6	74502505	74502505	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	21	0	ENST00000287097.5:c.2858C>G	p.Ala953Gly	p.A953G	ENST00000287097		953	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS4982.1	2858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCTCTTT	NONE	.	.	Superfamily_domains:SSF48239,Gene3D:1.50.10.20,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	.	.	ENSP00000287097	.	23/33	.	.	.	.	.	.	.	.	.	23/33	PASS	ENST00000287097	Transcript	.	.	ENSG00000156535	21685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0)	.	CD109_HUMAN	CD109	HGNC	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN	.	UPI000013DE92	SNV	CD109,missense_variant,p.Ala953Gly,ENST00000287097,;CD109,missense_variant,p.Ala953Gly,ENST00000437994,;CD109,missense_variant,p.Ala876Gly,ENST00000422508,;CD109,non_coding_transcript_exon_variant,,ENST00000474094,;	2970	21	27	SUCCESS
RNGTT	8732	.	GRCh37	6	89554193	89554193	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	79	0	ENST00000369485.4:c.1152A>G	p.Ile384Met	p.I384M	ENST00000369485	NM_003800.3	384	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS5017.1	1152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCTATACA	NONE	.	.	hmmpanther:PTHR10367,hmmpanther:PTHR10367:SF0,Gene3D:3.30.470.30,Pfam_domain:PF01331,PIRSF_domain:PIRSF036958,Superfamily_domains:SSF56091	.	.	ENSP00000358497	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000369485	Transcript	.	.	ENSG00000111880	10073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	MCE1_HUMAN	RNGTT	HGNC	Q7Z3R6_HUMAN,B4DIQ0_HUMAN	.	UPI000012ED6E	SNV	RNGTT,missense_variant,p.Ile384Met,ENST00000369475,;RNGTT,missense_variant,p.Ile324Met,ENST00000538899,;RNGTT,missense_variant,p.Ile384Met,ENST00000265607,;RNGTT,missense_variant,p.Ile384Met,ENST00000369485,;	1339	79	44	SUCCESS
PHF14	9678	.	GRCh37	7	11209071	11209071	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	7	158	0	ENST00000445996.2:c.1946A>G	p.Asn649Ser	p.N649S	ENST00000445996		649	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	.	.	1946	MUTECT|MUSE	.	AAAAAATATAT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000403907	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000445996	Transcript	.	.	ENSG00000106443	22203	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.39)	.	PHF14_HUMAN	PHF14	HGNC	.	.	UPI0000EE431B	SNV	PHF14,missense_variant,p.Asn649Ser,ENST00000445996,;PHF14,non_coding_transcript_exon_variant,,ENST00000469407,;PHF14,non_coding_transcript_exon_variant,,ENST00000493922,;PHF14,3_prime_UTR_variant,,ENST00000423760,;PHF14,non_coding_transcript_exon_variant,,ENST00000470665,;PHF14,non_coding_transcript_exon_variant,,ENST00000473050,;	2465	158	172	SUCCESS
KMT2C	58508	.	GRCh37	7	151849960	151849960	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745808781	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	24	135	0	ENST00000262189.6:c.12356C>T	p.Pro4119Leu	p.P4119L	ENST00000262189	NM_170606.2	4119	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5931.1	12356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGGAGCA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	49/59	.	.	.	.	.	.	.	.	rs745808781	49/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Pro4176Leu,ENST00000355193,;KMT2C,missense_variant,p.Pro736Leu,ENST00000424877,;KMT2C,missense_variant,p.Pro1680Leu,ENST00000360104,;KMT2C,missense_variant,p.Pro4119Leu,ENST00000262189,;KMT2C,downstream_gene_variant,,ENST00000418061,;KMT2C,downstream_gene_variant,,ENST00000485241,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	12575	135	128	SUCCESS
USP42	84132	.	GRCh37	7	6187455	6187455	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377573018	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	57	0	ENST00000306177.5:c.1318C>T	p.Arg440Trp	p.R440W	ENST00000306177	NM_032172.2	440	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS47535.1	1318	MUTECT|MUSE	.	GTCAGCGGGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	T:0.0001	ENSP00000301962	.	12/18	.	.	.	.	.	.	.	.	rs377573018	12/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,missense_variant,p.Arg440Trp,ENST00000306177,;USP42,missense_variant,p.Arg286Trp,ENST00000426246,;USP42,missense_variant,p.Arg373Trp,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;	1476	57	58	SUCCESS
TYW1	55253	.	GRCh37	7	66482951	66482951	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs531919446	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	89	0	ENST00000359626.5:c.682G>A	p.Asp228Asn	p.D228N	ENST00000359626	NM_018264.3	228	Gac/Aac	0	.	A:0	.	A:0	.	A	D/N	protein_coding	YES	CCDS5538.1	682	RADIA|MUTECT|VARSCANS	.	AGGCCGACTTC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50902,hmmpanther:PTHR13930:SF0,hmmpanther:PTHR13930,Pfam_domain:PF00258,Gene3D:3.40.50.360,Superfamily_domains:SSF52218	A:0	.	ENSP00000352645	A:0	6/16	.	.	.	.	.	.	.	.	rs531919446	6/16	PASS	ENST00000359626	Transcript	.	A:0.0002	ENSG00000198874	25598	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.449)	A:0.001	tolerated(0.08)	.	TYW1_HUMAN	TYW1	HGNC	B4DW16_HUMAN	.	UPI00003674A9	SNV	TYW1,missense_variant,p.Asp228Asn,ENST00000359626,;TYW1,downstream_gene_variant,,ENST00000442959,;TYW1,missense_variant,p.Asp228Asn,ENST00000361660,;	846	89	99	SUCCESS
CPSF4	10898	.	GRCh37	7	99045802	99045802	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	114	0	ENST00000292476.5:c.213G>T	p.Trp71Cys	p.W71C	ENST00000292476		71	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS5664.1	213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGCTGCG	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF18,Pfam_domain:PF00642,Gene3D:1m9oA00,SMART_domains:SM00356,Superfamily_domains:SSF90229	.	.	ENSP00000292476	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000292476	Transcript	.	.	ENSG00000160917	2327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CPSF4_HUMAN	CPSF4	HGNC	C9K0K2_HUMAN	.	UPI0000072392	SNV	CPSF4,missense_variant,p.Trp71Cys,ENST00000436336,;CPSF4,missense_variant,p.Trp71Cys,ENST00000451876,;CPSF4,missense_variant,p.Trp18Cys,ENST00000412686,;CPSF4,missense_variant,p.Trp71Cys,ENST00000292476,;CPSF4,missense_variant,p.Trp38Cys,ENST00000452047,;CPSF4,missense_variant,p.Trp18Cys,ENST00000441580,;PTCD1,intron_variant,,ENST00000555673,;ATP5J2-PTCD1,intron_variant,,ENST00000413834,;PTCD1,intron_variant,,ENST00000430982,;CPSF4,upstream_gene_variant,,ENST00000440514,;CPSF4,non_coding_transcript_exon_variant,,ENST00000471455,;ATP5J2-PTCD1,non_coding_transcript_exon_variant,,ENST00000437572,;ATP5J2,downstream_gene_variant,,ENST00000466753,;CPSF4,3_prime_UTR_variant,,ENST00000430038,;CPSF4,non_coding_transcript_exon_variant,,ENST00000484112,;ATP5J2-PTCD1,intron_variant,,ENST00000451138,;ATP5J2,downstream_gene_variant,,ENST00000414062,;CPSF4,upstream_gene_variant,,ENST00000465132,;CPSF4,upstream_gene_variant,,ENST00000482251,;AC073063.10,upstream_gene_variant,,ENST00000434352,;	223	114	111	SUCCESS
ZHX1	11244	.	GRCh37	8	124266184	124266185	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	144	19	124	0	ENST00000297857.2:c.2002dup	p.Thr668AsnfsTer3	p.T668Nfs*3	ENST00000297857		668	aca/aAca	0	.	.	.	.	.	T	T/NX	protein_coding	YES	CCDS6342.1	2002-2003	INDELOCATOR|VARSCANI	.	CAGGTGTTTTT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	insertion	ZHX1,frameshift_variant,p.Thr668AsnfsTer3,ENST00000395571,;ZHX1,frameshift_variant,p.Thr668AsnfsTer3,ENST00000522655,;ZHX1,frameshift_variant,p.Thr668AsnfsTer3,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000480132,;ZHX1,downstream_gene_variant,,ENST00000524267,;	2620-2621	124	164	SUCCESS
TEX15	56154	.	GRCh37	8	30702749	30702749	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs115550830	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	97	0	ENST00000256246.2:c.3785C>T	p.Ala1262Val	p.A1262V	ENST00000256246	NM_031271.3	1262	gCg/gTg	0	.	C:0.0008	.	C:0	.	A	A/V	protein_coding	YES	CCDS6080.1	3785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCGCCTTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	C:0	.	ENSP00000256246	C:0	1/4	.	.	.	.	.	.	.	.	rs115550830	1/4	PASS	ENST00000256246	Transcript	.	C:0.0002	ENSG00000133863	11738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	C:0	tolerated(1)	.	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,missense_variant,p.Ala1262Val,ENST00000256246,;TEX15,downstream_gene_variant,,ENST00000523186,;	3860	97	44	SUCCESS
CPNE3	8895	.	GRCh37	8	87549817	87549817	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	61	1	ENST00000198765.4:c.486C>A	p.Tyr162Ter	p.Y162*	ENST00000198765		162	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS6243.1	486	RADIA|MUTECT|MUSE|VARSCANS	.	CCATACCTGGA	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10857:SF22,hmmpanther:PTHR10857,PROSITE_profiles:PS50004	.	.	ENSP00000430934	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000521271	Transcript	.	.	ENSG00000085719	2316	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CPNE3_HUMAN	CPNE3	HGNC	E5RJ85_HUMAN,E5RHZ0_HUMAN,E5RG97_HUMAN,E5RG68_HUMAN,E5RFT7_HUMAN	.	UPI0000127C13	SNV	CPNE3,stop_gained,p.Tyr162Ter,ENST00000523072,;CPNE3,stop_gained,p.Tyr162Ter,ENST00000198765,;CPNE3,stop_gained,p.Tyr162Ter,ENST00000521271,;CPNE3,intron_variant,,ENST00000517391,;CPNE3,upstream_gene_variant,,ENST00000517862,;	648	62	69	SUCCESS
C5	727	.	GRCh37	9	123768307	123768307	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	87	0	ENST00000223642.1:c.2452A>T	p.Lys818Ter	p.K818*	ENST00000223642	NM_001735.2	818	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS6826.1	2452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTTGCCT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83,Pfam_domain:PF00207	.	.	ENSP00000223642	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,stop_gained,p.Lys818Ter,ENST00000223642,;C5,non_coding_transcript_exon_variant,,ENST00000466280,;	2482	87	92	SUCCESS
OR1J2	26740	.	GRCh37	9	125273953	125273953	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	125	0	ENST00000335302.5:c.873C>G	p.Ser291Arg	p.S291R	ENST00000335302	NM_054107.1	291	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS35121.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCCTTAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF324,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000335575	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335302	Transcript	.	.	ENSG00000197233	8209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious_low_confidence(0)	.	OR1J2_HUMAN	OR1J2	HGNC	.	.	UPI0000041CF3	SNV	OR1J2,missense_variant,p.Ser291Arg,ENST00000335302,;	873	125	108	SUCCESS
OR1N2	138882	.	GRCh37	9	125315781	125315781	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	54	0	ENST00000373688.2:c.333T>C	p.Tyr111=	p.Y111=	ENST00000373688	NM_001004457.1	111	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS35123.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTATTCTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000362792	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373688	Transcript	.	.	ENSG00000171501	15111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1N2_HUMAN	OR1N2	HGNC	.	.	UPI000004618C	SNV	OR1N2,synonymous_variant,p.%3D,ENST00000373688,;	391	54	55	SUCCESS
IL33	90865	.	GRCh37	9	6241766	6241766	+	synonymous_variant	Silent	SNP	C	C	T	rs557833104	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	49	123	0	ENST00000381434.3:c.72C>T	p.Ala24=	p.A24=	ENST00000381434	NM_033439.3	24	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6468.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCTTGTG	NONE	.	.	hmmpanther:PTHR21114,hmmpanther:PTHR21114:SF0,Pfam_domain:PF15095	.	.	ENSP00000370842	.	1/7	.	.	.	.	.	.	.	.	rs557833104	1/7	PASS	ENST00000381434	Transcript	.	.	ENSG00000137033	16028	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL33_HUMAN	IL33	HGNC	.	.	UPI000000DBB2	SNV	IL33,synonymous_variant,p.%3D,ENST00000381434,;IL33,synonymous_variant,p.%3D,ENST00000456383,;IL33,synonymous_variant,p.%3D,ENST00000417746,;IL33,non_coding_transcript_exon_variant,,ENST00000463336,;	85	123	104	SUCCESS
PRUNE2	158471	.	GRCh37	9	79520995	79520995	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	26	0	ENST00000376718.3:c.-116C>T		p.*39*	ENST00000376718	NM_015225.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47982.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGACTGCTCCC	NONE	.	.	.	.	.	ENSP00000365908	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,5_prime_UTR_variant,,ENST00000376713,;PRUNE2,5_prime_UTR_variant,,ENST00000376718,;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000492157,;	9	26	18	SUCCESS
WWC3	55841	.	GRCh37	X	10085608	10085608	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	72	0	ENST00000380861.4:c.1509C>T	p.Ala503=	p.A503=	ENST00000380861	NM_015691.3	503	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14136.1	1509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCTCGGC	NONE	.	.	hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25	.	.	ENSP00000370242	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000380861	Transcript	.	.	ENSG00000047644	29237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WWC3_HUMAN	WWC3	HGNC	T2C6S4_HUMAN	.	UPI0000225CDE	SNV	WWC3,synonymous_variant,p.%3D,ENST00000380861,;WWC3,synonymous_variant,p.%3D,ENST00000454666,;	1900	72	75	SUCCESS
FRMPD3	84443	.	GRCh37	X	106841264	106841264	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	104	0	ENST00000276185.4:c.2254C>A	p.Arg752=	p.R752=	ENST00000276185		752	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	.	2254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCGAGAT	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6	.	.	ENSP00000276185	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,synonymous_variant,p.%3D,ENST00000276185,;FRMPD3,synonymous_variant,p.%3D,ENST00000439554,;	2254	104	120	SUCCESS
TENM1	10178	.	GRCh37	X	123680738	123680738	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	130	0	ENST00000371130.3:c.2637G>A	p.Val879=	p.V879=	ENST00000371130	NM_014253.3	879	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS55488.1	2637	RADIA|MUTECT|MUSE|VARSCANS	.	AATGACACCTC	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,synonymous_variant,p.%3D,ENST00000422452,;TENM1,synonymous_variant,p.%3D,ENST00000371130,;	2701	130	86	SUCCESS
TLR8	51311	.	GRCh37	X	12937742	12937742	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	32	204	0	ENST00000218032.6:c.583G>A	p.Gly195Arg	p.G195R	ENST00000218032	NM_138636.4	195	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14152.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGGAGTA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.495)	.	deleterious(0.01)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Gly213Arg,ENST00000311912,;TLR8,missense_variant,p.Gly195Arg,ENST00000218032,;	670	204	218	SUCCESS
GPR101	83550	.	GRCh37	X	136112567	136112567	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143030995	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	60	0	ENST00000298110.1:c.1267G>A	p.Val423Met	p.V423M	ENST00000298110	NM_054021.1	423	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS14662.1	1267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACGGCCA	SITE|p.V423M|c.1267G>A|3	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	.	T:0.0003	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	rs143030995,COSM376333	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.868)	.	tolerated(0.18)	0,1	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	SNV	GPR101,missense_variant,p.Val423Met,ENST00000298110,;	1267	60	80	SUCCESS
MAGEA11	4110	.	GRCh37	X	148798396	148798396	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	20	116	0	ENST00000355220.5:c.1250T>A	p.Leu417Gln	p.L417Q	ENST00000355220	NM_005366.4	417	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS48180.1	1250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGTATG	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71,PROSITE_profiles:PS50838	.	.	ENSP00000347358	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355220	Transcript	.	.	ENSG00000185247	6798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.36)	.	MAGAB_HUMAN	MAGEA11	HGNC	.	.	UPI0000211BB0	SNV	MAGEA11,missense_variant,p.Leu417Gln,ENST00000355220,;MAGEA11,missense_variant,p.Leu388Gln,ENST00000333104,;MAGEA11,downstream_gene_variant,,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	1352	116	139	SUCCESS
GLOD5	392465	.	GRCh37	X	48631828	48631828	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	38	0	ENST00000303227.6:c.460G>A	p.Val154Met	p.V154M	ENST00000303227	NM_001080489.2	154	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS55410.1	460	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGTGTCC	NONE	.	.	Superfamily_domains:SSF54593,Gene3D:3.10.180.10,Pfam_domain:PF12681,hmmpanther:PTHR21366,hmmpanther:PTHR21366:SF0	.	.	ENSP00000302552	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303227	Transcript	.	.	ENSG00000171433	33358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.474)	.	deleterious(0.01)	.	GLOD5_HUMAN	GLOD5	HGNC	.	.	UPI00003D5F30	SNV	GLOD5,missense_variant,p.Val121Met,ENST00000445229,;GLOD5,missense_variant,p.Val154Met,ENST00000303227,;RNU6-29P,downstream_gene_variant,,ENST00000384637,;GLOD5,non_coding_transcript_exon_variant,,ENST00000470676,;AC115617.2,downstream_gene_variant,,ENST00000419045,;	501	38	56	SUCCESS
POF1B	79983	.	GRCh37	X	84562234	84562234	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	28	160	1	ENST00000262753.4:c.1099G>T	p.Asp367Tyr	p.D367Y	ENST00000262753	NM_024921.3	367	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS14452.1	1099	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCTTTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22546	.	.	ENSP00000262753	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000262753	Transcript	.	.	ENSG00000124429	13711	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.718)	.	deleterious(0)	.	POF1B_HUMAN	POF1B	HGNC	.	.	UPI0000212116	SNV	POF1B,missense_variant,p.Asp367Tyr,ENST00000373145,;POF1B,missense_variant,p.Asp367Tyr,ENST00000262753,;	1245	161	181	SUCCESS
PRLHR	2834	.	GRCh37	10	120354129	120354142	+	frameshift_variant	Frame_Shift_Del	DEL	GGCGCACGTCGTGC	GGCGCACGTCGTGC	-	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	GGCGCACGTCGTGC	GGCGCACGTCGTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	68	0	ENST00000239032.2:c.615_628del	p.His206LeufsTer196	p.H206Lfs*196	ENST00000239032	NM_004248.2	205	ccGCACGACGTGCGCCtc/cctc	0	.	.	.	.	.	-	PHDVRL/PX	protein_coding	YES	CCDS7606.1	615-628	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCAGAGGCGCACGTCGTGCGGCTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01018	.	.	ENSP00000239032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239032	Transcript	.	.	ENSG00000119973	4464	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRLHR_HUMAN	PRLHR	HGNC	.	.	UPI000013CA6F	deletion	PRLHR,frameshift_variant,p.His206LeufsTer196,ENST00000369169,;PRLHR,frameshift_variant,p.His206LeufsTer196,ENST00000239032,;	754-767	68	69	SUCCESS
GPR158	57512	.	GRCh37	10	25887038	25887038	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143609365	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	158	336	0	ENST00000376351.3:c.2483C>T	p.Thr828Met	p.T828M	ENST00000376351	NM_020752.2	828	aCg/aTg	0	G:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS31166.1	2483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACGGAAG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	G:0.0003	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	rs143609365	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.13)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Thr828Met,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	2842	336	407	SUCCESS
LDB3	11155	.	GRCh37	10	88459242	88459242	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	38	0	ENST00000361373.4:c.896+6914C>A		p.*299*	ENST00000361373	NM_007078.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53550.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCTGGGG	NONE	.	.	.	.	.	ENSP00000401437	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODIFIER	8/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,3_prime_UTR_variant,,ENST00000372056,;LDB3,3_prime_UTR_variant,,ENST00000372066,;LDB3,3_prime_UTR_variant,,ENST00000542786,;LDB3,3_prime_UTR_variant,,ENST00000310944,;LDB3,intron_variant,,ENST00000361373,;LDB3,intron_variant,,ENST00000458213,;LDB3,intron_variant,,ENST00000352360,;LDB3,intron_variant,,ENST00000429277,;LDB3,intron_variant,,ENST00000263066,;	.	38	34	SUCCESS
MINPP1	9562	.	GRCh37	10	89265290	89265290	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	46	0	ENST00000371996.4:c.618G>T	p.Leu206Phe	p.L206F	ENST00000371996	NM_004897.4	206	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7384.1	618	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTGCCGCC	NONE	.	.	hmmpanther:PTHR20963,hmmpanther:PTHR20963:SF8,Pfam_domain:PF00328,Gene3D:3.40.50.1240,PIRSF_domain:PIRSF000894,Superfamily_domains:SSF53254	.	.	ENSP00000361064	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371996	Transcript	.	.	ENSG00000107789	7102	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.532)	.	tolerated(0.16)	.	MINP1_HUMAN	MINPP1	HGNC	B4E394_HUMAN	.	UPI0000035984	SNV	MINPP1,missense_variant,p.Leu206Phe,ENST00000371996,;MINPP1,missense_variant,p.Leu206Phe,ENST00000371994,;MINPP1,upstream_gene_variant,,ENST00000536010,;	659	46	60	SUCCESS
MMP7	4316	.	GRCh37	11	102395766	102395766	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	48	123	0	ENST00000260227.4:c.514C>T	p.Pro172Ser	p.P172S	ENST00000260227	NM_002423.3	172	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS8317.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGCCCAT	NONE	.	.	hmmpanther:PTHR10201:SF128,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000260227	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000260227	Transcript	.	.	ENSG00000137673	7174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	deleterious(0.02)	.	MMP7_HUMAN	MMP7	HGNC	A5GZ72_HUMAN	.	UPI00000422BD	SNV	MMP7,missense_variant,p.Pro172Ser,ENST00000260227,;MMP7,non_coding_transcript_exon_variant,,ENST00000533366,;MMP7,downstream_gene_variant,,ENST00000531200,;	567	123	139	SUCCESS
PCSK7	9159	.	GRCh37	11	117097882	117097882	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1193006173	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	54	0	ENST00000320934.3:c.760C>T	p.Arg254Cys	p.R254C	ENST00000320934	NM_004716.2	254	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8382.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCGGCTCC	NONE	.	.	hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743	.	.	ENSP00000325917	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000320934	Transcript	.	.	ENSG00000160613	8748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	PCSK7_HUMAN	PCSK7	HGNC	E9PMC0_HUMAN,E9PLM0_HUMAN,E9PIW7_HUMAN,B3KUH2_HUMAN	.	UPI0000070E4E	SNV	PCSK7,missense_variant,p.Arg254Cys,ENST00000320934,;PCSK7,missense_variant,p.Arg254Cys,ENST00000525027,;PCSK7,downstream_gene_variant,,ENST00000532301,;PCSK7,upstream_gene_variant,,ENST00000540028,;PCSK7,downstream_gene_variant,,ENST00000524507,;PCSK7,downstream_gene_variant,,ENST00000530269,;PCSK7,upstream_gene_variant,,ENST00000528217,;PCSK7,upstream_gene_variant,,ENST00000534529,;	1391	54	64	SUCCESS
GLB1L3	112937	.	GRCh37	11	134179570	134179570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	42	94	0	ENST00000431683.2:c.1012G>A	p.Val338Ile	p.V338I	ENST00000431683	NM_001080407.2	338	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS44780.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGTATAT	NONE	.	.	hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59,Gene3D:3.20.20.80,Pfam_domain:PF01301,PIRSF_domain:PIRSF006336,Superfamily_domains:SSF51445,Prints_domain:PR00742	.	.	ENSP00000396615	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000431683	Transcript	.	.	ENSG00000166105	25147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.12)	.	GLBL3_HUMAN	GLB1L3	HGNC	.	.	UPI0001633637	SNV	GLB1L3,missense_variant,p.Val338Ile,ENST00000431683,;GLB1L3,downstream_gene_variant,,ENST00000389887,;GLB1L3,missense_variant,p.Val23Ile,ENST00000455971,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,intron_variant,,ENST00000498012,;GLB1L3,upstream_gene_variant,,ENST00000410100,;GLB1L3,upstream_gene_variant,,ENST00000467068,;	1012	94	100	SUCCESS
SPTBN2	6712	.	GRCh37	11	66472298	66472298	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	46	0	ENST00000309996.2:c.2449C>T	p.Leu817=	p.L817=	ENST00000309996	NM_006946.2	817	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8150.1	2449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAGTGTGG	NONE	.	.	PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	15/38	.	.	.	.	.	.	.	.	.	15/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,synonymous_variant,p.%3D,ENST00000533211,;SPTBN2,synonymous_variant,p.%3D,ENST00000309996,;SPTBN2,synonymous_variant,p.%3D,ENST00000529997,;	2781	46	51	SUCCESS
SUV420H1	0	.	GRCh37	11	67926442	67926442	+	synonymous_variant	Silent	SNP	A	A	G	rs765500897	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	57	103	0	ENST00000304363.4:c.1371T>C	p.His457=	p.H457=	ENST00000304363	NM_017635.3	457	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS31623.1	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAATGATT	NONE	.	.	hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10	.	.	ENSP00000305899	.	11/11	.	.	.	.	.	.	.	.	rs765500897	11/11	PASS	ENST00000304363	Transcript	.	.	ENSG00000110066	24283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SV421_HUMAN	SUV420H1	HGNC	E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN	.	UPI00001FADE7	SNV	SUV420H1,synonymous_variant,p.%3D,ENST00000304363,;SUV420H1,3_prime_UTR_variant,,ENST00000427752,;SUV420H1,3_prime_UTR_variant,,ENST00000441488,;	1725	103	127	SUCCESS
CHID1	66005	.	GRCh37	11	870164	870179	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	CTGCAAGACAAAGGGA	CTGCAAGACAAAGGGA	-	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	CTGCAAGACAAAGGGA	CTGCAAGACAAAGGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	103	22	113	0	ENST00000323578.8:c.1041-16_1041-1del		p.X347_splice	ENST00000323578	NM_023947.3	347		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44511.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCTCCTGCAAGACAAAGGGACTGTC	NONE	.	.	.	.	.	ENSP00000398722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454838	Transcript	.	.	ENSG00000177830	28474	.	.	HIGH	11/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHID1_HUMAN	CHID1	HGNC	H0YDL6_HUMAN,E9PJL0_HUMAN,E9PJ91_HUMAN	.	UPI000003B0AE	deletion	CHID1,splice_acceptor_variant,,ENST00000449825,;CHID1,splice_acceptor_variant,,ENST00000529539,;CHID1,splice_acceptor_variant,,ENST00000323578,;CHID1,splice_acceptor_variant,,ENST00000528581,;CHID1,splice_acceptor_variant,,ENST00000323541,;CHID1,splice_acceptor_variant,,ENST00000336845,;CHID1,splice_acceptor_variant,,ENST00000436108,;CHID1,splice_acceptor_variant,,ENST00000454838,;CHID1,splice_acceptor_variant,,ENST00000429789,;TSPAN4,downstream_gene_variant,,ENST00000397396,;TSPAN4,downstream_gene_variant,,ENST00000525201,;TSPAN4,downstream_gene_variant,,ENST00000532375,;TSPAN4,downstream_gene_variant,,ENST00000409543,;TSPAN4,downstream_gene_variant,,ENST00000397411,;TSPAN4,downstream_gene_variant,,ENST00000525334,;TSPAN4,downstream_gene_variant,,ENST00000397397,;TSPAN4,downstream_gene_variant,,ENST00000346501,;TSPAN4,downstream_gene_variant,,ENST00000397404,;TSPAN4,downstream_gene_variant,,ENST00000397406,;TSPAN4,downstream_gene_variant,,ENST00000397408,;TSPAN4,downstream_gene_variant,,ENST00000527644,;TSPAN4,downstream_gene_variant,,ENST00000409531,;CHID1,downstream_gene_variant,,ENST00000528534,;CHID1,downstream_gene_variant,,ENST00000526714,;CHID1,splice_acceptor_variant,,ENST00000528521,;CHID1,splice_acceptor_variant,,ENST00000532909,;CHID1,splice_acceptor_variant,,ENST00000534207,;CHID1,splice_acceptor_variant,,ENST00000524538,;TSPAN4,downstream_gene_variant,,ENST00000529566,;TSPAN4,downstream_gene_variant,,ENST00000468468,;TSPAN4,downstream_gene_variant,,ENST00000494815,;TSPAN4,downstream_gene_variant,,ENST00000464987,;	.	113	125	SUCCESS
PARPBP	55010	.	GRCh37	12	102547704	102547704	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779976676	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	66	127	1	ENST00000327680.2:c.202C>A	p.Leu68Ile	p.L68I	ENST00000327680	NM_017915.3	68	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS9090.2	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCTTTCT	NONE	.	.	hmmpanther:PTHR32121	.	.	ENSP00000351153	.	4/11	.	.	.	.	.	.	.	.	rs779976676	4/11	PASS	ENST00000358383	Transcript	.	.	ENSG00000185480	26074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated(0.34)	.	PARI_HUMAN	PARPBP	HGNC	.	.	UPI000004A06B	SNV	PARPBP,missense_variant,p.Leu149Ile,ENST00000358383,;PARPBP,missense_variant,p.Leu149Ile,ENST00000378128,;PARPBP,missense_variant,p.Leu226Ile,ENST00000541394,;PARPBP,missense_variant,p.Leu116Ile,ENST00000417507,;PARPBP,missense_variant,p.Leu68Ile,ENST00000327680,;PARPBP,missense_variant,p.Leu116Ile,ENST00000412715,;PARPBP,missense_variant,p.Leu68Ile,ENST00000392911,;PARPBP,intron_variant,,ENST00000543784,;PARPBP,downstream_gene_variant,,ENST00000537257,;PARPBP,non_coding_transcript_exon_variant,,ENST00000541668,;PARPBP,intron_variant,,ENST00000535811,;PARPBP,missense_variant,p.Leu38Ile,ENST00000457614,;PARPBP,downstream_gene_variant,,ENST00000392909,;PARPBP,downstream_gene_variant,,ENST00000392914,;	490	128	178	SUCCESS
DAO	1610	.	GRCh37	12	109288134	109288134	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	116	0	ENST00000228476.3:c.603G>T	p.Gln201His	p.Q201H	ENST00000228476	NM_001917.4	201	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS9122.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGATCAT	NONE	.	.	hmmpanther:PTHR11530:SF5,hmmpanther:PTHR11530,Gene3D:3.30.9.10,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,Superfamily_domains:SSF51971,Superfamily_domains:SSF54373	.	.	ENSP00000228476	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000228476	Transcript	.	.	ENSG00000110887	2671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	OXDA_HUMAN	DAO	HGNC	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN	.	UPI0000130F5F	SNV	DAO,missense_variant,p.Gln78His,ENST00000547768,;DAO,missense_variant,p.Gln201His,ENST00000228476,;DAO,missense_variant,p.Gln135His,ENST00000551281,;DAO,downstream_gene_variant,,ENST00000547166,;DAO,3_prime_UTR_variant,,ENST00000549215,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,upstream_gene_variant,,ENST00000546552,;	807	116	120	SUCCESS
SBNO1	55206	.	GRCh37	12	123789129	123789129	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	139	321	0	ENST00000420886.2:c.3768G>C	p.Lys1256Asn	p.K1256N	ENST00000420886	NM_001167856.1	1256	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS53844.1	3768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACCTTCTT	NONE	.	.	hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8	.	.	ENSP00000387361	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000420886	Transcript	.	.	ENSG00000139697	22973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	deleterious(0)	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,missense_variant,p.Lys1256Asn,ENST00000602398,;SBNO1,missense_variant,p.Lys1255Asn,ENST00000602750,;SBNO1,missense_variant,p.Lys1256Asn,ENST00000420886,;SBNO1,missense_variant,p.Lys1255Asn,ENST00000267176,;	3768	322	392	SUCCESS
GALNT8	26290	.	GRCh37	12	4829970	4829970	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	84	148	0	ENST00000252318.2:c.127A>T	p.Arg43Trp	p.R43W	ENST00000252318	NM_017417.1	43	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS8533.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGGGAG	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13	.	.	ENSP00000252318	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000252318	Transcript	.	.	ENSG00000130035	4130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	deleterious(0)	.	GALT8_HUMAN	GALNT8	HGNC	Q68VJ3_HUMAN	.	UPI0000070DEC	SNV	GALNT8,missense_variant,p.Arg43Trp,ENST00000252318,;RP11-234B24.2,upstream_gene_variant,,ENST00000527518,;RP11-234B24.6,intron_variant,,ENST00000544741,;RP11-234B24.6,intron_variant,,ENST00000543979,;	464	148	210	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50190546	50190546	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369718554	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	77	0	ENST00000335999.6:c.1097C>T	p.Ala366Val	p.A366V	ENST00000335999	NM_001037806.3	366	gCg/gTg	0	A:0.0003	.	.	.	.	A	A/V	protein_coding	YES	CCDS41781.2	1097	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCCTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21740	.	A:0	ENSP00000337998	.	8/13	.	.	.	.	.	.	.	.	rs369718554	8/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.13)	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Ala366Val,ENST00000335999,;NCKAP5L,missense_variant,p.Ala81Val,ENST00000433948,;	1299	77	79	SUCCESS
SMARCC2	6601	.	GRCh37	12	56566407	56566407	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764190806	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	22	96	0	ENST00000267064.4:c.1732C>T	p.Arg578Cys	p.R578C	ENST00000267064	NM_003075.3	578	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8907.1	1732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGCAGCC	NONE	byFrequency	.	hmmpanther:PTHR12802:SF38,hmmpanther:PTHR12802	.	.	ENSP00000267064	.	18/28	.	.	.	.	.	.	.	.	rs764190806	18/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.689)	.	deleterious(0.03)	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	SNV	SMARCC2,missense_variant,p.Arg578Cys,ENST00000267064,;SMARCC2,missense_variant,p.Arg609Cys,ENST00000550164,;SMARCC2,missense_variant,p.Arg609Cys,ENST00000394023,;SMARCC2,missense_variant,p.Arg609Cys,ENST00000347471,;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000549209,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000548130,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000552931,;SMARCC2,downstream_gene_variant,,ENST00000552566,;	1819	96	124	SUCCESS
LTA4H	4048	.	GRCh37	12	96394788	96394788	+	synonymous_variant	Silent	SNP	C	C	T	rs1185617644	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	9	78	0	ENST00000228740.2:c.1815G>A	p.Gly605=	p.G605=	ENST00000228740	NM_000895.2	605	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9059.1	1815	MUTECT|MUSE|VARSCANS	.	TCTTTCCCCAC	NONE	.	.	TIGRFAM_domain:TIGR02411,Pfam_domain:PF09127,Superfamily_domains:SSF48371	.	.	ENSP00000228740	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000228740	Transcript	.	.	ENSG00000111144	6710	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LKHA4_HUMAN	LTA4H	HGNC	Q49AK0_HUMAN	.	UPI0000111C40	SNV	LTA4H,synonymous_variant,p.%3D,ENST00000228740,;LTA4H,synonymous_variant,p.%3D,ENST00000552789,;LTA4H,3_prime_UTR_variant,,ENST00000413268,;HAL,upstream_gene_variant,,ENST00000541929,;HAL,upstream_gene_variant,,ENST00000261208,;HAL,upstream_gene_variant,,ENST00000538703,;RP11-256L6.3,intron_variant,,ENST00000551849,;LTA4H,non_coding_transcript_exon_variant,,ENST00000537111,;LTA4H,non_coding_transcript_exon_variant,,ENST00000553041,;HAL,upstream_gene_variant,,ENST00000544080,;LTA4H,downstream_gene_variant,,ENST00000548852,;HAL,upstream_gene_variant,,ENST00000546999,;LTA4H,downstream_gene_variant,,ENST00000547393,;	1957	78	108	SUCCESS
INO80	54617	.	GRCh37	15	41313209	41313209	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	81	0	ENST00000361937.3:c.3163C>G	p.Pro1055Ala	p.P1055A	ENST00000361937		1055	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS10071.1	3163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGGGCCC	NONE	.	.	hmmpanther:PTHR10799:SF213,hmmpanther:PTHR10799	.	.	ENSP00000355205	.	26/36	.	.	.	.	.	.	.	.	COSM1708022,COSM1708023	26/36	PASS	ENST00000361937	Transcript	.	.	ENSG00000128908	26956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	tolerated(0.28)	1,1	INO80_HUMAN	INO80	HGNC	Q9NUK2_HUMAN	.	UPI00001B6AFC	SNV	INO80,missense_variant,p.Pro1055Ala,ENST00000361937,;INO80,missense_variant,p.Pro1055Ala,ENST00000401393,;RP11-540O11.4,intron_variant,,ENST00000558967,;RP11-540O11.4,upstream_gene_variant,,ENST00000560178,;INO80,missense_variant,p.Pro1055Ala,ENST00000558357,;INO80,3_prime_UTR_variant,,ENST00000557849,;	3588	81	79	SUCCESS
ADAM10	102	.	GRCh37	15	58891888	58891888	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	49	120	0	ENST00000260408.3:c.2061T>G	p.Ala687=	p.A687=	ENST00000260408	NM_001110.2	687	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS10167.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGAGCAAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11905:SF113,hmmpanther:PTHR11905	.	.	ENSP00000260408	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000260408	Transcript	1	.	ENSG00000137845	188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA10_HUMAN	ADAM10	HGNC	.	.	UPI00001254C8	SNV	ADAM10,synonymous_variant,p.%3D,ENST00000260408,;ADAM10,synonymous_variant,p.%3D,ENST00000396140,;ADAM10,intron_variant,,ENST00000561288,;ADAM10,intron_variant,,ENST00000402627,;snoU13,downstream_gene_variant,,ENST00000458913,;ADAM10,3_prime_UTR_variant,,ENST00000396136,;ADAM10,non_coding_transcript_exon_variant,,ENST00000482945,;	2505	120	129	SUCCESS
SNN	8303	.	GRCh37	16	11770176	11770176	+	synonymous_variant	Silent	SNP	C	C	T	rs1045239527	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	56	126	0	ENST00000329565.5:c.261C>T	p.His87=	p.H87=	ENST00000329565	NM_003498.5	87	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS10549.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGGCTG	NONE	.	.	Gene3D:1zzaA00,Pfam_domain:PF09051	.	.	ENSP00000329287	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329565	Transcript	.	.	ENSG00000184602	11149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNN_HUMAN	SNN	HGNC	.	.	UPI0000001656	SNV	SNN,synonymous_variant,p.%3D,ENST00000329565,;TXNDC11,downstream_gene_variant,,ENST00000356957,;TXNDC11,downstream_gene_variant,,ENST00000283033,;TXNDC11,downstream_gene_variant,,ENST00000570917,;	473	126	145	SUCCESS
KRT33A	3883	.	GRCh37	17	39506775	39506775	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755531489	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	76	137	0	ENST00000007735.3:c.245C>T	p.Ala82Val	p.A82V	ENST00000007735	NM_004138.3	82	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11388.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCGCGTTG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF98	.	.	ENSP00000007735	.	1/7	.	.	.	.	.	.	.	.	rs755531489	1/7	PASS	ENST00000007735	Transcript	.	.	ENSG00000006059	6450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	deleterious(0.03)	.	KT33A_HUMAN	KRT33A	HGNC	.	.	UPI000013C503	SNV	KRT33A,missense_variant,p.Ala82Val,ENST00000007735,;	290	137	199	SUCCESS
KAT7	11143	.	GRCh37	17	47866157	47866157	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	58	119	0	ENST00000259021.4:c.-40C>T		p.*14*	ENST00000259021	NM_007067.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11554.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCGCTGC	NONE	.	.	.	.	.	ENSP00000259021	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000259021	Transcript	.	.	ENSG00000136504	17016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAT7_HUMAN	KAT7	HGNC	G3V125_HUMAN,B4DJ40_HUMAN,B4DGH8_HUMAN	.	UPI000006D3D5	SNV	KAT7,5_prime_UTR_variant,,ENST00000510819,;KAT7,5_prime_UTR_variant,,ENST00000259021,;KAT7,5_prime_UTR_variant,,ENST00000454930,;KAT7,5_prime_UTR_variant,,ENST00000424009,;KAT7,5_prime_UTR_variant,,ENST00000509773,;KAT7,upstream_gene_variant,,ENST00000506533,;KAT7,upstream_gene_variant,,ENST00000435742,;KAT7,upstream_gene_variant,,ENST00000503935,;FAM117A,upstream_gene_variant,,ENST00000513602,;KAT7,non_coding_transcript_exon_variant,,ENST00000509124,;FAM117A,non_coding_transcript_exon_variant,,ENST00000514018,;FAM117A,intron_variant,,ENST00000509347,;FAM117A,intron_variant,,ENST00000505159,;FAM117A,upstream_gene_variant,,ENST00000503855,;FAM117A,upstream_gene_variant,,ENST00000503720,;	241	119	130	SUCCESS
hsa-mir-6080	0	.	GRCh37	17	62750750	62750750	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	126	209	0	ENST00000400873.3:n.1864G>T		p.*622*	ENST00000400873				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCCCTATG	NONE	.	.	.	.	.	.	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000400873	Transcript	.	.	ENSG00000215769	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	hsa-mir-6080	miRBase	.	.	.	SNV	hsa-mir-6080,non_coding_transcript_exon_variant,,ENST00000578492,;hsa-mir-6080,non_coding_transcript_exon_variant,,ENST00000400873,;RP13-104F24.1,non_coding_transcript_exon_variant,,ENST00000584190,;RP13-104F24.3,downstream_gene_variant,,ENST00000583145,;	1864	209	277	SUCCESS
MGAT5B	146664	.	GRCh37	17	74878443	74878443	+	intron_variant	Intron	SNP	G	G	A	rs867627282	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	54	1	ENST00000569840.2:c.329+63G>A		p.*110*	ENST00000569840	NM_001199172.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45788.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGGGGTG	NONE	.	.	.	.	.	ENSP00000391227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428789	Transcript	.	.	ENSG00000167889	24140	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT5B_HUMAN	MGAT5B	HGNC	.	.	UPI0000231C88	SNV	MGAT5B,3_prime_UTR_variant,,ENST00000565675,;MGAT5B,intron_variant,,ENST00000428789,;MGAT5B,intron_variant,,ENST00000569840,;MGAT5B,intron_variant,,ENST00000301618,;MGAT5B,intron_variant,,ENST00000374998,;MGAT5B,intron_variant,,ENST00000565043,;	.	55	63	SUCCESS
DSG3	1830	.	GRCh37	18	29039050	29039050	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	142	295	0	ENST00000257189.4:c.427C>T	p.Leu143=	p.L143=	ENST00000257189	NM_001944.2	143	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11898.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATACTAACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000257189	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000257189	Transcript	.	.	ENSG00000134757	3050	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSG3_HUMAN	DSG3	HGNC	.	.	UPI000013CF4B	SNV	DSG3,synonymous_variant,p.%3D,ENST00000257189,;	510	295	395	SUCCESS
ZBTB7C	201501	.	GRCh37	18	45567333	45567333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1039584444	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	69	0	ENST00000535628.2:c.146G>A	p.Arg49His	p.R49H	ENST00000535628	NM_001039360.2	49	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS32830.1	146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCGGTGG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000468782	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000588982	Transcript	.	.	ENSG00000184828	31700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ZBT7C_HUMAN	ZBTB7C	HGNC	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN	.	UPI0000073FE3	SNV	ZBTB7C,missense_variant,p.Arg49His,ENST00000590437,;ZBTB7C,missense_variant,p.Arg49His,ENST00000590800,;ZBTB7C,missense_variant,p.Arg49His,ENST00000535628,;ZBTB7C,missense_variant,p.Arg49His,ENST00000586438,;ZBTB7C,missense_variant,p.Arg49His,ENST00000332053,;ZBTB7C,missense_variant,p.Arg49His,ENST00000588982,;ZBTB7C,downstream_gene_variant,,ENST00000590855,;ZBTB7C,downstream_gene_variant,,ENST00000591279,;ZBTB7C,downstream_gene_variant,,ENST00000590374,;ZBTB7C,downstream_gene_variant,,ENST00000591526,;ZBTB7C,downstream_gene_variant,,ENST00000586047,;ZBTB7C,downstream_gene_variant,,ENST00000592656,;ZBTB7C,downstream_gene_variant,,ENST00000593159,;ZBTB7C,downstream_gene_variant,,ENST00000589619,;ZBTB7C,downstream_gene_variant,,ENST00000589170,;ZBTB7C,downstream_gene_variant,,ENST00000591405,;ZBTB7C,downstream_gene_variant,,ENST00000588053,;ZBTB7C,downstream_gene_variant,,ENST00000589077,;ZBTB7C,downstream_gene_variant,,ENST00000588970,;ZBTB7C,downstream_gene_variant,,ENST00000588566,;ZBTB7C,downstream_gene_variant,,ENST00000585404,;ZBTB7C,downstream_gene_variant,,ENST00000588149,;ZBTB7C,downstream_gene_variant,,ENST00000587107,;ZBTB7C,downstream_gene_variant,,ENST00000592387,;ZBTB7C,downstream_gene_variant,,ENST00000589194,;ZBTB7C,downstream_gene_variant,,ENST00000586743,;ZBTB7C,downstream_gene_variant,,ENST00000590178,;ZBTB7C,downstream_gene_variant,,ENST00000588028,;ZBTB7C,downstream_gene_variant,,ENST00000586525,;	648	69	73	SUCCESS
ENOSF1	55556	.	GRCh37	18	712566	712566	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs1193738262	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	56	123	0	ENST00000251101.7:c.22del	p.Arg8GlyfsTer34	p.R8Gfs*34	ENST00000251101	NM_017512.5	8	Cgg/gg	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11823.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGCCGGGAGA	BUFFER|p.S7F|c.20C>T|4	.	22	.	.	.	ENSP00000345974	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340116	Transcript	.	.	ENSG00000132199	30365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENOF1_HUMAN	ENOSF1	HGNC	Q6ZS08_HUMAN	.	UPI0000252153	deletion	ENOSF1,frameshift_variant,p.Arg8GlyfsTer34,ENST00000580982,;ENOSF1,frameshift_variant,p.Arg8GlyfsTer34,ENST00000539164,;ENOSF1,frameshift_variant,p.Arg8GlyfsTer34,ENST00000251101,;ENOSF1,5_prime_UTR_variant,,ENST00000383578,;ENOSF1,5_prime_UTR_variant,,ENST00000583771,;ENOSF1,upstream_gene_variant,,ENST00000340116,;RP11-806L2.6,downstream_gene_variant,,ENST00000580007,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000581332,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000580605,;ENOSF1,frameshift_variant,p.Arg8GlyfsTer34,ENST00000581475,;ENOSF1,frameshift_variant,p.Arg8GlyfsTer34,ENST00000584453,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000585004,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000578651,;ENOSF1,upstream_gene_variant,,ENST00000585128,;	.	123	208	SUCCESS
CPAMD8	27151	.	GRCh37	19	17100489	17100489	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	66	122	0	ENST00000443236.1:c.1500C>A	p.Cys500Ter	p.C500*	ENST00000443236	NM_015692.2	500	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS42519.1	1500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTAGCACTG	NONE	.	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412	.	.	ENSP00000402505	.	13/42	.	.	.	.	.	.	.	.	.	13/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,stop_gained,p.Cys500Ter,ENST00000443236,;CPAMD8,intron_variant,,ENST00000388925,;CPAMD8,intron_variant,,ENST00000291440,;	1532	122	126	SUCCESS
PAK4	10298	.	GRCh37	19	39663569	39663569	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	74	119	0	ENST00000358301.3:c.216G>T	p.Arg72=	p.R72=	ENST00000358301	NM_001014832.1	72	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12528.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGGGGCAG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF181	.	.	ENSP00000469413	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000593690	Transcript	.	.	ENSG00000130669	16059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAK4_HUMAN	PAK4	HGNC	M0R2X4_HUMAN,B4DUG0_HUMAN	.	UPI0000001281	SNV	PAK4,synonymous_variant,p.%3D,ENST00000321944,;PAK4,synonymous_variant,p.%3D,ENST00000360442,;PAK4,synonymous_variant,p.%3D,ENST00000358301,;PAK4,synonymous_variant,p.%3D,ENST00000593480,;PAK4,synonymous_variant,p.%3D,ENST00000593690,;PAK4,synonymous_variant,p.%3D,ENST00000435673,;PAK4,intron_variant,,ENST00000602004,;PAK4,intron_variant,,ENST00000599470,;PAK4,intron_variant,,ENST00000599657,;PAK4,intron_variant,,ENST00000599386,;PAK4,upstream_gene_variant,,ENST00000597715,;PAK4,upstream_gene_variant,,ENST00000600350,;	643	119	182	SUCCESS
LRFN1	57622	.	GRCh37	19	39805727	39805729	+	frameshift_variant	Frame_Shift_Del	DEL	CTC	CTC	GT	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	CTC	CTC	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	54	0	ENST00000248668.4:c.248_250delinsAC	p.Arg83HisfsTer6	p.R83Hfs*6	ENST00000248668	NM_020862.1	83	cGAGac/cACac	0	.	.	.	.	.	GT	RD/HX	protein_coding	YES	CCDS46071.1	248-250	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CGAAGTCTCGGCGG	NONE	.	.	Superfamily_domains:SSF52058,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373	.	.	ENSP00000248668	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000248668	Transcript	.	.	ENSG00000128011	29290	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN1_HUMAN	LRFN1	HGNC	.	.	UPI00001A5C55	substitution	LRFN1,frameshift_variant,p.Arg83HisfsTer6,ENST00000248668,;CTC-246B18.8,non_coding_transcript_exon_variant,,ENST00000601911,;	248-250	54	73	SUCCESS
RBM15	64783	.	GRCh37	1	110882218	110882218	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	105	224	0	ENST00000369784.3:c.191C>G	p.Ser64Trp	p.S64W	ENST00000369784	NM_022768.4	64	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS822.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCGACTT	NONE	.	.	hmmpanther:PTHR23189:SF43,hmmpanther:PTHR23189	.	.	ENSP00000358799	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369784	Transcript	.	.	ENSG00000162775	14959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious_low_confidence(0.02)	.	RBM15_HUMAN	RBM15	HGNC	.	.	UPI000013E1C5	SNV	RBM15,missense_variant,p.Ser64Trp,ENST00000602849,;RBM15,missense_variant,p.Ser64Trp,ENST00000369784,;RBM15,missense_variant,p.Ser64Trp,ENST00000487146,;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;	1091	224	259	SUCCESS
NUP210L	91181	.	GRCh37	1	154062058	154062058	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs771522844	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	56	117	0	ENST00000368559.3:c.2200C>T	p.Arg734Ter	p.R734*	ENST00000368559	NM_207308.2	734	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS41399.1	2200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCGGAATG	SITE|p.R734*|c.2200C>T|4,CODON|p.R734Q|c.2201G>A|3	byFrequency	.	hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	16/40	.	.	.	.	.	.	.	.	rs771522844,COSM2151913	16/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,stop_gained,p.Arg734Ter,ENST00000368559,;NUP210L,stop_gained,p.Arg734Ter,ENST00000271854,;	2272	118	267	SUCCESS
BRINP3	339479	.	GRCh37	1	190423865	190423865	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	341	13	156	0	ENST00000367462.3:c.156A>T	p.Gly52=	p.G52=	ENST00000367462	NM_199051.1	52	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1373.1	156	MUTECT|MUSE	.	AAGGGTCCCTT	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Asp14Val,ENST00000534846,;BRINP3,synonymous_variant,p.%3D,ENST00000367462,;BRINP3,downstream_gene_variant,,ENST00000445957,;	388	156	354	SUCCESS
SYNC	81493	.	GRCh37	1	33160953	33160953	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	63	0	ENST00000409190.3:c.746T>C	p.Val249Ala	p.V249A	ENST00000409190	NM_030786.2	249	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS367.2	746	RADIA|MUTECT|MUSE	.	TTGTCACTTTG	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF100,hmmpanther:PTHR23239	.	.	ENSP00000386439	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000409190	Transcript	.	.	ENSG00000162520	28897	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.992)	.	tolerated(0.07)	.	SYNCI_HUMAN	SYNC	HGNC	C9JTN4_HUMAN,C9JSS1_HUMAN	.	UPI0001881B1E	SNV	SYNC,missense_variant,p.Val249Ala,ENST00000409190,;SYNC,missense_variant,p.Val249Ala,ENST00000373484,;SYNC,downstream_gene_variant,,ENST00000417633,;SYNC,downstream_gene_variant,,ENST00000426909,;	1205	63	62	SUCCESS
MIER1	57708	.	GRCh37	1	67412187	67412187	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	22	0	ENST00000355356.3:c.180+209A>G		p.*60*	ENST00000355356	NM_001077701.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53326.1	.	MUTECT|MUSE	.	TTCACATAGTT	NONE	.	.	.	.	.	ENSP00000383820	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	MODIFIER	4/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	SNV	MIER1,3_prime_UTR_variant,,ENST00000371012,;MIER1,intron_variant,,ENST00000355356,;MIER1,intron_variant,,ENST00000355977,;MIER1,intron_variant,,ENST00000371018,;MIER1,intron_variant,,ENST00000357692,;MIER1,intron_variant,,ENST00000401042,;MIER1,intron_variant,,ENST00000401041,;MIER1,intron_variant,,ENST00000371014,;MIER1,intron_variant,,ENST00000371016,;MIER1,intron_variant,,ENST00000479067,;	.	22	29	SUCCESS
SNAP25	6616	.	GRCh37	20	10273637	10273637	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	25	125	0	ENST00000254976.2:c.164-172C>G		p.*55*	ENST00000254976	NM_130811.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13110.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTCCTTGT	NONE	.	.	.	.	.	ENSP00000254976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254976	Transcript	1	.	ENSG00000132639	11132	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNP25_HUMAN	SNAP25	HGNC	.	.	UPI0000001103	SNV	SNAP25,missense_variant,p.Pro91Ala,ENST00000304886,;SNAP25,intron_variant,,ENST00000430336,;SNAP25,intron_variant,,ENST00000254976,;SNAP25-AS1,intron_variant,,ENST00000453544,;SNAP25-AS1,intron_variant,,ENST00000421143,;SNAP25,upstream_gene_variant,,ENST00000495883,;	.	125	134	SUCCESS
SNAP25	6616	.	GRCh37	20	10273846	10273846	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	80	196	0	ENST00000254976.2:c.201C>G	p.Ile67Met	p.I67M	ENST00000254976	NM_130811.2	67	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS13110.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCAATAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50192,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF5,Gene3D:1.20.5.110,SMART_domains:SM00397,Superfamily_domains:SSF58038	.	.	ENSP00000254976	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000254976	Transcript	1	.	ENSG00000132639	11132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious(0.04)	.	SNP25_HUMAN	SNAP25	HGNC	.	.	UPI0000001103	SNV	SNAP25,missense_variant,p.Ile67Met,ENST00000430336,;SNAP25,missense_variant,p.Ile67Met,ENST00000254976,;SNAP25,intron_variant,,ENST00000304886,;SNAP25-AS1,intron_variant,,ENST00000453544,;SNAP25-AS1,intron_variant,,ENST00000421143,;SNAP25,upstream_gene_variant,,ENST00000495883,;	412	196	219	SUCCESS
SPAG4	6676	.	GRCh37	20	34204001	34204001	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	32	125	0	ENST00000374273.3:c.76T>G	p.Ser26Ala	p.S26A	ENST00000374273	NM_003116.1	26	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS13259.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTCAATG	NONE	.	.	hmmpanther:PTHR12911:SF16,hmmpanther:PTHR12911	.	.	ENSP00000363391	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000374273	Transcript	.	.	ENSG00000061656	11214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0.01)	.	SPAG4_HUMAN	SPAG4	HGNC	C9JJZ6_HUMAN	.	UPI0000135D8F	SNV	SPAG4,missense_variant,p.Ser26Ala,ENST00000374273,;SPAG4,upstream_gene_variant,,ENST00000430878,;SPAG4,upstream_gene_variant,,ENST00000454819,;SPAG4,upstream_gene_variant,,ENST00000462896,;SPAG4,upstream_gene_variant,,ENST00000468248,;SPAG4,upstream_gene_variant,,ENST00000498203,;SPAG4,upstream_gene_variant,,ENST00000463973,;	188	125	144	SUCCESS
COL20A1	57642	.	GRCh37	20	61943320	61943320	+	synonymous_variant	Silent	SNP	G	G	A	rs374496650	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	79	0	ENST00000358894.6:c.1716G>A	p.Ala572=	p.A572=	ENST00000358894	NM_020882.2	572	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS46628.1	1716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCGGCACG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853	.	A:0.0007	ENSP00000351767	.	14/36	.	.	.	.	.	.	.	.	rs374496650	14/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,synonymous_variant,p.%3D,ENST00000358894,;COL20A1,synonymous_variant,p.%3D,ENST00000422202,;COL20A1,synonymous_variant,p.%3D,ENST00000326996,;COL20A1,synonymous_variant,p.%3D,ENST00000435874,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	1816	79	91	SUCCESS
DYRK1A	1859	.	GRCh37	21	38845103	38845103	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750600368	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	39	95	0	ENST00000398960.2:c.128G>A	p.Arg43His	p.R43H	ENST00000398960	NM_001396.3	43	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS42925.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCGTCGCC	NONE	.	.	hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058	.	.	ENSP00000381932	.	2/11	.	.	.	.	.	.	.	.	rs750600368	2/11	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	deleterious_low_confidence(0.03)	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,missense_variant,p.Arg43His,ENST00000451934,;DYRK1A,missense_variant,p.Arg43His,ENST00000339659,;DYRK1A,missense_variant,p.Arg43His,ENST00000455097,;DYRK1A,missense_variant,p.Arg43His,ENST00000398956,;DYRK1A,missense_variant,p.Arg43His,ENST00000398960,;DYRK1A,missense_variant,p.Arg43His,ENST00000426672,;DYRK1A,missense_variant,p.Arg43His,ENST00000338785,;DYRK1A,missense_variant,p.Arg43His,ENST00000321219,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000462274,;DYRK1A,downstream_gene_variant,,ENST00000498351,;	203	95	55	SUCCESS
LINC00205	642852	.	GRCh37	21	46713395	46713395	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	35	72	0	ENST00000433465.1:n.196G>A		p.*66*	ENST00000433465				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCGAACGC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433465	Transcript	.	.	ENSG00000223768	16420	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00205	HGNC	.	.	.	SNV	LINC00205,non_coding_transcript_exon_variant,,ENST00000433465,;BX322557.10,downstream_gene_variant,,ENST00000400362,;BX322557.10,downstream_gene_variant,,ENST00000454115,;	196	72	52	SUCCESS
NOL12	79159	.	GRCh37	22	38083917	38083917	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	274	20	268	0	ENST00000359114.4:c.84G>T		p.X28_splice	ENST00000359114	NM_024313.2	28	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13955.1	84	MUTECT|MUSE	.	TGTAGGGAGTA	NONE	.	.	hmmpanther:PTHR14577:SF0,hmmpanther:PTHR14577,Pfam_domain:PF09805	.	.	ENSP00000352021	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000359114	Transcript	.	.	ENSG00000100101	28585	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOL12_HUMAN	NOL12	HGNC	B4DGP7_HUMAN	.	UPI0000073B12	SNV	NOL12,synonymous_variant,p.%3D,ENST00000359114,;NOL12,splice_region_variant,,ENST00000493862,;NOL12,synonymous_variant,p.%3D,ENST00000455236,;NOL12,synonymous_variant,p.%3D,ENST00000438329,;NOL12,splice_region_variant,,ENST00000474032,;NOL12,splice_region_variant,,ENST00000468597,;NOL12,non_coding_transcript_exon_variant,,ENST00000484650,;	154	268	294	SUCCESS
CHADL	150356	.	GRCh37	22	41632639	41632639	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	43	0	ENST00000216241.9:c.1912T>C	p.Phe638Leu	p.F638L	ENST00000216241	NM_138481.1	638	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS46715.1	1912	MUTECT|MUSE	.	TGAAAAGGCCC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF24,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000216241	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000216241	Transcript	.	.	ENSG00000100399	25165	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.233)	.	tolerated(0.43)	.	CHADL_HUMAN	CHADL	HGNC	.	.	UPI00001C2057	SNV	CHADL,missense_variant,p.Phe135Leu,ENST00000455425,;CHADL,missense_variant,p.Phe636Leu,ENST00000417999,;CHADL,missense_variant,p.Phe638Leu,ENST00000216241,;	1965	43	59	SUCCESS
STAT1	6772	.	GRCh37	2	191840368	191840368	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	24	0	ENST00000361099.3:c.2135+170T>A		p.*712*	ENST00000361099	NM_007315.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2309.1	.	MUTECT|MUSE	.	TTTTTAAAGTA	NONE	.	.	.	.	.	ENSP00000354394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361099	Transcript	.	.	ENSG00000115415	11362	.	.	MODIFIER	23/24	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAT1_HUMAN	STAT1	HGNC	Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN	.	UPI00000473FB	SNV	STAT1,3_prime_UTR_variant,,ENST00000392323,;STAT1,3_prime_UTR_variant,,ENST00000392322,;STAT1,intron_variant,,ENST00000540176,;STAT1,intron_variant,,ENST00000361099,;STAT1,intron_variant,,ENST00000409465,;STAT1,3_prime_UTR_variant,,ENST00000452281,;STAT1,intron_variant,,ENST00000423282,;STAT1,downstream_gene_variant,,ENST00000464072,;STAT1,upstream_gene_variant,,ENST00000415035,;	.	24	48	SUCCESS
CNPPD1	27013	.	GRCh37	2	220041613	220041613	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	245	117	174	0	ENST00000360507.5:c.-63C>T		p.*21*	ENST00000360507	NM_015680.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2433.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCGGAGCTG	NONE	.	.	.	.	.	ENSP00000386277	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409789	Transcript	.	.	ENSG00000115649	25220	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPD1_HUMAN	CNPPD1	HGNC	C9JF31_HUMAN	.	UPI000013D5FA	SNV	CNPPD1,5_prime_UTR_variant,,ENST00000451647,;CNPPD1,5_prime_UTR_variant,,ENST00000360507,;FAM134A,intron_variant,,ENST00000458520,;CNPPD1,intron_variant,,ENST00000409789,;CNPPD1,intron_variant,,ENST00000453038,;FAM134A,upstream_gene_variant,,ENST00000443757,;FAM134A,upstream_gene_variant,,ENST00000430297,;FAM134A,upstream_gene_variant,,ENST00000452022,;FAM134A,upstream_gene_variant,,ENST00000420189,;FAM134A,upstream_gene_variant,,ENST00000430747,;FAM134A,upstream_gene_variant,,ENST00000452293,;FAM134A,upstream_gene_variant,,ENST00000273048,;FAM134A,upstream_gene_variant,,ENST00000481925,;FAM134A,upstream_gene_variant,,ENST00000465672,;	.	174	363	SUCCESS
ING5	84289	.	GRCh37	2	242651417	242651417	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	630	59	461	1	ENST00000313552.6:c.413G>C	p.Arg138Thr	p.R138T	ENST00000313552	NM_032329.4	138	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS33425.1	413	MUTECT|MUSE|VARSCANS	.	AAAAAGAGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10333:SF41,hmmpanther:PTHR10333	.	.	ENSP00000322142	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000313552	Transcript	.	.	ENSG00000168395	19421	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.511)	.	tolerated(0.13)	.	ING5_HUMAN	ING5	HGNC	.	.	UPI00000702CD	SNV	ING5,missense_variant,p.Arg138Thr,ENST00000406941,;ING5,missense_variant,p.Arg138Thr,ENST00000313552,;ING5,non_coding_transcript_exon_variant,,ENST00000482774,;ING5,3_prime_UTR_variant,,ENST00000445620,;ING5,non_coding_transcript_exon_variant,,ENST00000489509,;ING5,non_coding_transcript_exon_variant,,ENST00000492488,;ING5,downstream_gene_variant,,ENST00000493261,;ING5,downstream_gene_variant,,ENST00000484145,;	439	462	689	SUCCESS
LBH	81606	.	GRCh37	2	30457289	30457289	+	synonymous_variant	Silent	SNP	G	G	C	rs141295319	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	41	84	0	ENST00000395323.3:c.45G>C	p.Ser15=	p.S15=	ENST00000395323	NM_030915.3	15	tcG/tcC	0	A:0.0014	.	.	.	.	C	S	protein_coding	YES	CCDS33173.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGGCCAA	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF008130,hmmpanther:PTHR14987:SF2,hmmpanther:PTHR14987	.	A:0	ENSP00000378733	.	2/3	.	.	.	.	.	.	.	.	rs141295319	2/3	PASS	ENST00000395323	Transcript	.	.	ENSG00000213626	29532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBH_HUMAN	LBH	HGNC	F8WC18_HUMAN,B5MBX5_HUMAN	.	UPI0000034E08	SNV	LBH,synonymous_variant,p.%3D,ENST00000401506,;LBH,synonymous_variant,p.%3D,ENST00000395323,;LBH,synonymous_variant,p.%3D,ENST00000404397,;LBH,synonymous_variant,p.%3D,ENST00000406087,;LBH,5_prime_UTR_variant,,ENST00000407930,;LBH,non_coding_transcript_exon_variant,,ENST00000467242,;LBH,non_coding_transcript_exon_variant,,ENST00000484150,;LBH,non_coding_transcript_exon_variant,,ENST00000464412,;LBH,synonymous_variant,p.%3D,ENST00000412933,;	253	84	129	SUCCESS
NRXN1	9378	.	GRCh37	2	50699467	50699467	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	47	92	0	ENST00000406316.2:c.3213C>T	p.Phe1071=	p.F1071=	ENST00000406316	NM_004801.4	1071	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS46282.1	3333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGAAAAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200	.	.	ENSP00000385142	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000401710,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;	4673	92	150	SUCCESS
KIAA1407	0	.	GRCh37	3	113755465	113755465	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs529892538	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	63	130	0	ENST00000295878.3:c.584G>A	p.Arg195Lys	p.R195K	ENST00000295878	NM_020817.1	195	aGa/aAa	0	.	T:0	.	T:0	.	T	R/K	protein_coding	YES	CCDS2977.1	584	RADIA|MUTECT|MUSE	.	TATGTCTCATC	NONE	by1000G	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	T:0	.	ENSP00000295878	T:0.001	5/17	.	.	.	.	.	.	.	.	rs529892538	5/17	PASS	ENST00000295878	Transcript	.	T:0.0002	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	T:0	deleterious(0)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Arg182Lys,ENST00000491000,;KIAA1407,missense_variant,p.Arg26Lys,ENST00000545063,;KIAA1407,missense_variant,p.Arg159Lys,ENST00000483766,;KIAA1407,missense_variant,p.Arg195Lys,ENST00000295878,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,3_prime_UTR_variant,,ENST00000463695,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;	731	130	178	SUCCESS
KIAA1407	0	.	GRCh37	3	113755521	113755521	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	55	141	0	ENST00000295878.3:c.528G>A	p.Arg176=	p.R176=	ENST00000295878	NM_020817.1	176	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2977.1	528	RADIA|MUTECT|MUSE	.	TCCTTCCTTCC	NONE	.	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,synonymous_variant,p.%3D,ENST00000491000,;KIAA1407,synonymous_variant,p.%3D,ENST00000545063,;KIAA1407,synonymous_variant,p.%3D,ENST00000483766,;KIAA1407,synonymous_variant,p.%3D,ENST00000295878,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,3_prime_UTR_variant,,ENST00000463695,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;	675	141	173	SUCCESS
KIAA1407	0	.	GRCh37	3	113755550	113755550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	42	141	0	ENST00000295878.3:c.499G>A	p.Asp167Asn	p.D167N	ENST00000295878	NM_020817.1	167	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2977.1	499	RADIA|MUTECT	.	AGAATCTACCA	NONE	.	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.093)	.	tolerated(0.68)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Asp154Asn,ENST00000491000,;KIAA1407,missense_variant,p.Asp131Asn,ENST00000483766,;KIAA1407,missense_variant,p.Asp167Asn,ENST00000295878,;KIAA1407,5_prime_UTR_variant,,ENST00000545063,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,3_prime_UTR_variant,,ENST00000463695,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;	646	141	158	SUCCESS
XRN1	54464	.	GRCh37	3	142030539	142030542	+	frameshift_variant	Frame_Shift_Del	DEL	ACTT	ACTT	-	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	ACTT	ACTT	.	.	.	.	.	.	.	.	.	.	.	.	.	32	132	167	0	ENST00000264951.4:c.4932_4935del	p.Ser1645HisfsTer9	p.S1645Hfs*9	ENST00000264951	NM_019001.3	1644	gtAAGT/gt	0	.	.	.	.	.	-	VS/X	protein_coding	YES	CCDS3123.1	4932-4935	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGTGGACTTACTTT	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF006743	.	.	ENSP00000264951	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	deletion	XRN1,frameshift_variant,p.Ser1099HisfsTer9,ENST00000498077,;XRN1,frameshift_variant,p.Ser1633HisfsTer9,ENST00000392981,;XRN1,frameshift_variant,p.Ser1645HisfsTer9,ENST00000264951,;	5050-5053	167	164	SUCCESS
SDHAP1	255812	.	GRCh37	3	195690171	195690171	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	A	A	G	rs769286983	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	29	0	ENST00000427841.1:n.2325T>C		p.X775_splice	ENST00000427841		775		0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACAAAAGC	NONE	.	.	.	.	.	.	.	16/17	.	.	.	.	.	.	.	.	rs769286983	16/17	PASS	ENST00000427841	Transcript	.	.	ENSG00000185485	32455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SDHAP1	HGNC	.	.	.	SNV	SDHAP1,splice_region_variant,,ENST00000427149,;SDHAP1,splice_region_variant,,ENST00000427841,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000354559,;SDHAP1,intron_variant,,ENST00000354937,;SDHAP1,downstream_gene_variant,,ENST00000440850,;	2325	29	54	SUCCESS
DLEC1	9940	.	GRCh37	3	38103672	38103672	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	76	0	ENST00000308059.6:c.686C>A	p.Pro229His	p.P229H	ENST00000308059		229	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS2672.2	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCTGGAT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Pro229His,ENST00000308059,;DLEC1,missense_variant,p.Pro229His,ENST00000346219,;DLEC1,missense_variant,p.Pro229His,ENST00000452631,;DLEC1,upstream_gene_variant,,ENST00000469151,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;DLEC1,upstream_gene_variant,,ENST00000447130,;	707	76	81	SUCCESS
BAP1	8314	.	GRCh37	3	52437901	52437901	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	51	0	ENST00000460680.1:c.1260del	p.Lys421ArgfsTer9	p.K421Rfs*9	ENST00000460680	NM_004656.3	420	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS2853.1	1260	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCTTCCCCTT	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,frameshift_variant,p.Lys13ArgfsTer9,ENST00000469613,;BAP1,frameshift_variant,p.Lys403ArgfsTer9,ENST00000296288,;BAP1,frameshift_variant,p.Lys421ArgfsTer9,ENST00000460680,;BAP1,upstream_gene_variant,,ENST00000478368,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	1732	51	37	SUCCESS
ETFDH	2110	.	GRCh37	4	159593412	159593412	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	14	0	ENST00000511912.1:c.-197G>A		p.*66*	ENST00000511912	NM_004453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3800.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGGCGCC	NONE	.	.	.	.	.	ENSP00000426638	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000511912	Transcript	1	.	ENSG00000171503	3483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETFD_HUMAN	ETFDH	HGNC	D6RAD5_HUMAN,B4DEQ0_HUMAN	.	UPI000013EC48	SNV	ETFDH,5_prime_UTR_variant,,ENST00000512251,;ETFDH,5_prime_UTR_variant,,ENST00000511912,;C4orf46,upstream_gene_variant,,ENST00000508457,;ETFDH,upstream_gene_variant,,ENST00000507475,;C4orf46,upstream_gene_variant,,ENST00000379205,;ETFDH,upstream_gene_variant,,ENST00000307738,;ETFDH,upstream_gene_variant,,ENST00000436096,;C4orf46,upstream_gene_variant,,ENST00000508836,;ETFDH,upstream_gene_variant,,ENST00000510353,;ETFDH,upstream_gene_variant,,ENST00000506422,;	136	14	26	SUCCESS
FSTL5	56884	.	GRCh37	4	162421233	162421233	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs771029095	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	16	112	0	ENST00000306100.5:c.1393A>G	p.Ile465Val	p.I465V	ENST00000306100	NM_001128427.2	465	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3802.1	1393	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTATCACTT	NONE	.	.	hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	12/16	.	.	.	.	.	.	.	.	rs771029095	12/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.651)	.	tolerated(0.1)	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Ile464Val,ENST00000379164,;FSTL5,missense_variant,p.Ile464Val,ENST00000536695,;FSTL5,missense_variant,p.Ile455Val,ENST00000427802,;FSTL5,missense_variant,p.Ile465Val,ENST00000306100,;FSTL5,upstream_gene_variant,,ENST00000511999,;	1830	112	161	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73169792	73169792	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	45	96	0	ENST00000286657.4:c.2266A>C	p.Lys756Gln	p.K756Q	ENST00000286657	NM_014243.2	756	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS3553.1	2266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTAATAG	NONE	.	.	hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Pfam_domain:PF05986	.	.	ENSP00000286657	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,missense_variant,p.Lys756Gln,ENST00000286657,;ADAMTS3,non_coding_transcript_exon_variant,,ENST00000511274,;	2303	96	104	SUCCESS
TCERG1	10915	.	GRCh37	5	145847914	145847914	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	9	115	0	ENST00000296702.5:c.1146G>T	p.Met382Ile	p.M382I	ENST00000296702	NM_006706.3	382	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4282.1	1146	MUTECT|MUSE	.	GCAATGATGCA	NONE	.	.	hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF7	.	.	ENSP00000296702	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000296702	Transcript	.	.	ENSG00000113649	15630	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.02)	.	TCRG1_HUMAN	TCERG1	HGNC	.	.	UPI000013E374	SNV	TCERG1,missense_variant,p.Met382Ile,ENST00000296702,;TCERG1,intron_variant,,ENST00000394421,;TCERG1,intron_variant,,ENST00000510724,;TCERG1,missense_variant,p.Met382Ile,ENST00000549332,;TCERG1,intron_variant,,ENST00000507175,;TCERG1,intron_variant,,ENST00000513298,;	1184	115	192	SUCCESS
LATS1	9113	.	GRCh37	6	150005031	150005031	+	synonymous_variant	Silent	SNP	C	C	T	rs143157058	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	87	0	ENST00000253339.5:c.1194G>A	p.Ser398=	p.S398=	ENST00000253339		398	tcG/tcA	0	T:0.0002	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS34551.1	1194	MUTECT|MUSE	.	TATGACGAAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138	T:0	T:0.0006	ENSP00000437550	T:0.001	4/8	.	.	.	.	.	.	.	.	rs143157058	4/8	PASS	ENST00000543571	Transcript	.	T:0.0002	ENSG00000131023	6514	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	LATS1_HUMAN	LATS1	HGNC	.	.	UPI0000073DC2	SNV	LATS1,synonymous_variant,p.%3D,ENST00000253339,;LATS1,synonymous_variant,p.%3D,ENST00000392273,;LATS1,synonymous_variant,p.%3D,ENST00000543571,;LATS1,downstream_gene_variant,,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;	1742	87	50	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156941	26156941	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	85	186	0	ENST00000304218.3:c.323A>C	p.Asn108Thr	p.N108T	ENST00000304218	NM_005321.2	108	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS4586.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAACAAGA	NONE	.	.	PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	COSM3860913	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.963)	.	deleterious(0.01)	1	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,missense_variant,p.Asn108Thr,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	383	186	218	SUCCESS
PEX6	5190	.	GRCh37	6	42935103	42935103	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	rs377041406	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	37	45	0	ENST00000304611.8:c.1884+3G>T		p.X628_splice	ENST00000304611	NM_000287.3	628		0	T:0.0011	.	.	.	.	A	.	protein_coding	YES	CCDS4877.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCACTGC	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000303511	.	.	.	.	.	.	.	.	.	.	rs377041406	.	PASS	ENST00000304611	Transcript	.	.	ENSG00000124587	8859	.	.	LOW	8/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEX6_HUMAN	PEX6	HGNC	.	.	UPI00001316EC	SNV	PEX6,splice_region_variant,,ENST00000304611,;PEX6,splice_region_variant,,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,;	.	45	118	SUCCESS
CALCR	799	.	GRCh37	7	93073038	93073038	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	63	126	0	ENST00000359558.2:c.782A>T	p.Gln261Leu	p.Q261L	ENST00000359558	NM_001164737.1	261	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS55125.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACTGGTGG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000352561	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000359558	Transcript	.	.	ENSG00000004948	1440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(1)	.	.	CALCR	HGNC	.	.	UPI0001B8380B	SNV	CALCR,missense_variant,p.Gln243Leu,ENST00000421592,;CALCR,missense_variant,p.Gln227Leu,ENST00000426151,;CALCR,missense_variant,p.Gln227Leu,ENST00000394441,;CALCR,missense_variant,p.Gln261Leu,ENST00000359558,;CALCR,missense_variant,p.Gln243Leu,ENST00000360249,;CALCR,missense_variant,p.Gln227Leu,ENST00000415529,;CALCR,missense_variant,p.Gln243Leu,ENST00000423724,;	1082	126	173	SUCCESS
SULF1	23213	.	GRCh37	8	70551053	70551053	+	synonymous_variant	Silent	SNP	A	A	G	rs781183494	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	347	24	269	0	ENST00000260128.4:c.2511A>G	p.Gly837=	p.G837=	ENST00000260128	NM_015170.2	837	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS6204.1	2511	MUTECT|MUSE	.	CAAGGATATAA	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	.	.	ENSP00000260128	.	21/23	.	.	.	.	.	.	.	.	rs781183494	21/23	PASS	ENST00000260128	Transcript	.	.	ENSG00000137573	20391	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SULF1_HUMAN	SULF1	HGNC	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN	.	UPI000003FD82	SNV	SULF1,synonymous_variant,p.%3D,ENST00000419716,;SULF1,synonymous_variant,p.%3D,ENST00000260128,;SULF1,synonymous_variant,p.%3D,ENST00000402687,;SULF1,synonymous_variant,p.%3D,ENST00000458141,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,missense_variant,p.Ile131Val,ENST00000531512,;SULF1,non_coding_transcript_exon_variant,,ENST00000530674,;SULF1,non_coding_transcript_exon_variant,,ENST00000526654,;SULF1,non_coding_transcript_exon_variant,,ENST00000532015,;	3228	269	371	SUCCESS
ZFHX4	79776	.	GRCh37	8	77768190	77768190	+	synonymous_variant	Silent	SNP	C	C	T	rs1460438408	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	77	152	0	ENST00000521891.2:c.9033C>T	p.Leu3011=	p.L3011=	ENST00000521891	NM_024721.4	3011	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47878.2	9033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTCTGCGG	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208,PROSITE_patterns:PS00028,SMART_domains:SM00355,SMART_domains:SM00451,Superfamily_domains:SSF57667	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;	9481	152	201	SUCCESS
RAD54B	25788	.	GRCh37	8	95390606	95390606	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1053803318	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	128	240	1	ENST00000336148.5:c.2317A>G	p.Thr773Ala	p.T773A	ENST00000336148	NM_012415.3	773	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6262.1	2317	RADIA|SOMATICSNIPER|VARSCANS	.	TATTGTACCTA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568,PROSITE_profiles:PS51194	.	.	ENSP00000336606	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000336148	Transcript	.	.	ENSG00000197275	17228	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.694)	.	deleterious(0.04)	.	RA54B_HUMAN	RAD54B	HGNC	E5RHN9_HUMAN	.	UPI0000070088	SNV	RAD54B,missense_variant,p.Thr773Ala,ENST00000336148,;FSBP,splice_region_variant,,ENST00000517506,;RAD54B,downstream_gene_variant,,ENST00000518358,;	2442	242	301	SUCCESS
TLR4	7099	.	GRCh37	9	120476829	120476829	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	59	88	0	ENST00000355622.6:c.2423G>T	p.Trp808Leu	p.W808L	ENST00000355622	NM_138557.2	808	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS6818.1	2423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGGAGAC	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52200	.	.	ENSP00000363089	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.11)	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,missense_variant,p.Trp808Leu,ENST00000355622,;TLR4,missense_variant,p.Trp768Leu,ENST00000394487,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;	2524	88	81	SUCCESS
GPR144	0	.	GRCh37	9	127215648	127215648	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	26	0	ENST00000334810.1:c.672G>T	p.Leu224=	p.L224=	ENST00000334810	NM_001161808.1	224	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	.	672	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCGCTGTTCTC	NONE	.	.	hmmpanther:PTHR12011:SF58,hmmpanther:PTHR12011,Gene3D:2.60.120.200,Pfam_domain:PF00354,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895	.	.	ENSP00000335156	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	SNV	GPR144,synonymous_variant,p.%3D,ENST00000334810,;	672	26	12	SUCCESS
WDR45	11152	.	GRCh37	X	48934306	48934306	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	113	203	0	ENST00000376372.3:c.339C>T		p.X113_splice	ENST00000376372	NM_001029896.1	113	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS14318.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGTCATG	NONE	.	.	hmmpanther:PTHR11227:SF26,hmmpanther:PTHR11227,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000348848	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000356463	Transcript	.	.	ENSG00000196998	28912	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPI4_HUMAN	WDR45	HGNC	C9J7Q8_HUMAN	.	UPI000035B01F	SNV	WDR45,synonymous_variant,p.%3D,ENST00000367375,;WDR45,synonymous_variant,p.%3D,ENST00000419567,;WDR45,synonymous_variant,p.%3D,ENST00000322995,;WDR45,synonymous_variant,p.%3D,ENST00000476728,;WDR45,synonymous_variant,p.%3D,ENST00000396681,;WDR45,synonymous_variant,p.%3D,ENST00000376372,;WDR45,synonymous_variant,p.%3D,ENST00000473974,;WDR45,synonymous_variant,p.%3D,ENST00000465382,;WDR45,synonymous_variant,p.%3D,ENST00000485908,;WDR45,synonymous_variant,p.%3D,ENST00000356463,;WDR45,synonymous_variant,p.%3D,ENST00000376368,;WDR45,synonymous_variant,p.%3D,ENST00000474053,;WDR45,synonymous_variant,p.%3D,ENST00000475880,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000553851,;WDR45,intron_variant,,ENST00000471338,;WDR45,upstream_gene_variant,,ENST00000475977,;WDR45,upstream_gene_variant,,ENST00000486337,;PRAF2,upstream_gene_variant,,ENST00000376390,;WDR45,downstream_gene_variant,,ENST00000423215,;PRAF2,upstream_gene_variant,,ENST00000376386,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,downstream_gene_variant,,ENST00000465431,;WDR45,splice_region_variant,,ENST00000465806,;WDR45,splice_region_variant,,ENST00000472654,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,upstream_gene_variant,,ENST00000480412,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,upstream_gene_variant,,ENST00000433252,;	781	203	257	SUCCESS
MAGIX	79917	.	GRCh37	X	49020204	49020204	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	48	59	0	ENST00000412696.2:c.133G>C	p.Ala45Pro	p.A45P	ENST00000412696	NM_024859.2	45	Gcg/Ccg	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS48106.1	133	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGCTGCGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10316:SF5,hmmpanther:PTHR10316	.	.	ENSP00000387928	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000412696	Transcript	.	.	ENSG00000017621	30006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	tolerated(0.19)	.	MAGIX_HUMAN	MAGIX	HGNC	.	.	UPI00018132AC	SNV	MAGIX,missense_variant,p.Ala29Pro,ENST00000415364,;MAGIX,missense_variant,p.Ala45Pro,ENST00000412696,;MAGIX,missense_variant,p.Ala51Pro,ENST00000458388,;MAGIX,missense_variant,p.Ala45Pro,ENST00000425661,;MAGIX,5_prime_UTR_variant,,ENST00000376339,;MAGIX,upstream_gene_variant,,ENST00000425285,;MAGIX,upstream_gene_variant,,ENST00000376338,;MAGIX,upstream_gene_variant,,ENST00000454342,;MAGIX,upstream_gene_variant,,ENST00000498742,;	133	59	96	SUCCESS
LDB1	8861	.	GRCh37	10	103870894	103870894	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	50	0	ENST00000425280.1:c.181A>T	p.Thr61Ser	p.T61S	ENST00000425280	NM_001113407.1	61	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS44472.1	181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTGTGCC	NONE	.	.	hmmpanther:PTHR10378:SF7,hmmpanther:PTHR10378	.	.	ENSP00000392466	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000425280	Transcript	.	.	ENSG00000198728	6532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.27)	.	LDB1_HUMAN	LDB1	HGNC	.	.	UPI00001F95EA	SNV	LDB1,missense_variant,p.Thr61Ser,ENST00000425280,;LDB1,missense_variant,p.Thr25Ser,ENST00000361198,;LDB1,non_coding_transcript_exon_variant,,ENST00000490751,;LDB1,upstream_gene_variant,,ENST00000461873,;	524	50	46	SUCCESS
CALHM1	255022	.	GRCh37	10	105215321	105215321	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs536458604	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	90	0	ENST00000329905.5:c.739A>T	p.Ile247Phe	p.I247F	ENST00000329905	NM_001001412.3	247	Atc/Ttc	0	.	C:0.0023	.	C:0	.	A	I/F	protein_coding	YES	CCDS7550.1	739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGATGCAGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR32261:SF2,hmmpanther:PTHR32261,Pfam_domain:PF14798	C:0	.	ENSP00000329926	C:0	2/2	.	.	.	.	.	.	.	.	rs536458604	2/2	PASS	ENST00000329905	Transcript	.	C:0.0006	ENSG00000185933	23494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	C:0	deleterious(0)	.	CAHM1_HUMAN	CALHM1	HGNC	.	.	UPI000016144D	SNV	CALHM1,missense_variant,p.Ile247Phe,ENST00000329905,;CALHM2,upstream_gene_variant,,ENST00000369788,;CALHM2,upstream_gene_variant,,ENST00000393235,;CALHM2,upstream_gene_variant,,ENST00000260743,;RP11-225H22.4,intron_variant,,ENST00000411906,;RP11-225H22.7,downstream_gene_variant,,ENST00000608063,;CALHM2,upstream_gene_variant,,ENST00000474797,;CALHM2,upstream_gene_variant,,ENST00000480642,;CALHM2,upstream_gene_variant,,ENST00000463878,;CALHM2,upstream_gene_variant,,ENST00000461631,;CALHM2,upstream_gene_variant,,ENST00000494180,;	876	90	77	SUCCESS
ADD3	120	.	GRCh37	10	111879082	111879082	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	38	160	0	ENST00000356080.4:c.831A>T	p.Gln277His	p.Q277H	ENST00000356080	NM_016824.3	277	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7561.1	831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAACTGCA	NONE	.	.	hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF5,Gene3D:3.40.225.10,Pfam_domain:PF00596,SMART_domains:SM01007,Superfamily_domains:SSF53639	.	.	ENSP00000348381	.	7/15	.	.	.	.	.	.	.	.	COSM3978076	7/15	PASS	ENST00000356080	Transcript	1	.	ENSG00000148700	245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.722)	.	deleterious(0.05)	1	ADDG_HUMAN	ADD3	HGNC	Q5VU08_HUMAN	.	UPI0000125505	SNV	ADD3,missense_variant,p.Gln277His,ENST00000360162,;ADD3,missense_variant,p.Gln277His,ENST00000356080,;ADD3,missense_variant,p.Gln277His,ENST00000277900,;ADD3,non_coding_transcript_exon_variant,,ENST00000488104,;ADD3,intron_variant,,ENST00000486014,;ADD3,upstream_gene_variant,,ENST00000492162,;ADD3,downstream_gene_variant,,ENST00000496517,;ADD3,downstream_gene_variant,,ENST00000468251,;ADD3,downstream_gene_variant,,ENST00000468345,;ADD3,upstream_gene_variant,,ENST00000472568,;ADD3,downstream_gene_variant,,ENST00000497125,;ADD3,downstream_gene_variant,,ENST00000484622,;ADD3,upstream_gene_variant,,ENST00000488837,;ADD3,downstream_gene_variant,,ENST00000475954,;	1198	160	144	SUCCESS
ADRA2A	150	.	GRCh37	10	112839073	112839073	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	54	0	ENST00000280155.2:c.1319T>C	p.Ile440Thr	p.I440T	ENST00000280155	NM_000681.3	440	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7569.2	1319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCTACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF24,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000280155	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000280155	Transcript	.	.	ENSG00000150594	281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	ADA2A_HUMAN	ADRA2A	HGNC	.	.	UPI000018CE86	SNV	ADRA2A,missense_variant,p.Ile440Thr,ENST00000280155,;	2284	54	54	SUCCESS
ATRNL1	26033	.	GRCh37	10	117059542	117059542	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	81	0	ENST00000355044.3:c.2416-2A>G		p.X806_splice	ENST00000355044	NM_207303.2	806		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7592.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACAGAAAG	NONE	.	.	.	.	.	ENSP00000347152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	HIGH	15/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,splice_acceptor_variant,,ENST00000355044,;ATRNL1,upstream_gene_variant,,ENST00000526373,;ATRNL1,upstream_gene_variant,,ENST00000423111,;ATRNL1,upstream_gene_variant,,ENST00000303745,;ATRNL1,upstream_gene_variant,,ENST00000534530,;	.	81	66	SUCCESS
TACC2	10579	.	GRCh37	10	123970404	123970404	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	61	0	ENST00000334433.3:c.6464A>T	p.Gln2155Leu	p.Q2155L	ENST00000334433		2155	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS7626.1	6464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Gln233Leu,ENST00000368999,;TACC2,missense_variant,p.Gln301Leu,ENST00000358010,;TACC2,missense_variant,p.Gln2159Leu,ENST00000453444,;TACC2,missense_variant,p.Gln233Leu,ENST00000260733,;TACC2,missense_variant,p.Gln2155Leu,ENST00000369005,;TACC2,missense_variant,p.Gln2155Leu,ENST00000334433,;TACC2,missense_variant,p.Gln2110Leu,ENST00000515603,;TACC2,missense_variant,p.Gln233Leu,ENST00000369004,;TACC2,missense_variant,p.Gln250Leu,ENST00000514539,;TACC2,missense_variant,p.Gln301Leu,ENST00000513429,;TACC2,missense_variant,p.Gln233Leu,ENST00000360561,;TACC2,missense_variant,p.Gln2159Leu,ENST00000515273,;TACC2,5_prime_UTR_variant,,ENST00000369000,;TACC2,5_prime_UTR_variant,,ENST00000369001,;TACC2,upstream_gene_variant,,ENST00000505639,;TACC2,upstream_gene_variant,,ENST00000496913,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000492237,;TACC2,downstream_gene_variant,,ENST00000493951,;TACC2,missense_variant,p.Gln2Leu,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;	6804	61	40	SUCCESS
FAM24A	118670	.	GRCh37	10	124672386	124672386	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	116	0	ENST00000368894.1:c.234T>A	p.Ser78=	p.S78=	ENST00000368894	NM_001029888.1	78	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS31304.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTCTCCA	NONE	.	.	Pfam_domain:PF15193	.	.	ENSP00000357889	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368894	Transcript	.	.	ENSG00000203795	23470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA24A_HUMAN	FAM24A	HGNC	.	.	UPI0000160DCE	SNV	FAM24A,synonymous_variant,p.%3D,ENST00000368894,;	355	116	110	SUCCESS
MCM10	55388	.	GRCh37	10	13214750	13214750	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	106	0	ENST00000484800.2:c.580A>G	p.Lys194Glu	p.K194E	ENST00000484800		194	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7096.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAAGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13454	.	.	ENSP00000418268	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000484800	Transcript	.	.	ENSG00000065328	18043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.01)	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,missense_variant,p.Lys194Glu,ENST00000484800,;MCM10,missense_variant,p.Lys193Glu,ENST00000378714,;MCM10,missense_variant,p.Lys193Glu,ENST00000378694,;MCM10,downstream_gene_variant,,ENST00000479669,;	683	106	87	SUCCESS
MCM10	55388	.	GRCh37	10	13240796	13240796	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	32	0	ENST00000484800.2:c.2230A>G	p.Ile744Val	p.I744V	ENST00000484800		744	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7096.1	2230	MUTECT|MUSE|VARSCANS	.	CAGGCATCCTG	NONE	.	.	hmmpanther:PTHR13454,Pfam_domain:PF09332	.	.	ENSP00000418268	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000484800	Transcript	.	.	ENSG00000065328	18043	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.86)	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,missense_variant,p.Ile744Val,ENST00000484800,;MCM10,missense_variant,p.Ile743Val,ENST00000378714,;MCM10,missense_variant,p.Ile743Val,ENST00000378694,;MCM10,non_coding_transcript_exon_variant,,ENST00000481292,;MCM10,non_coding_transcript_exon_variant,,ENST00000485659,;MCM10,downstream_gene_variant,,ENST00000459751,;	2333	32	31	SUCCESS
TTC40	0	.	GRCh37	10	134660613	134660613	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	48	0	ENST00000368586.5:c.6090G>C	p.Arg2030Ser	p.R2030S	ENST00000368586	NM_001200049.2	2030	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS58101.1	6090	SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCCTCTG	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	43/58	.	.	.	.	.	.	.	.	.	43/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.082)	.	tolerated(0.12)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Arg191Ser,ENST00000263170,;TTC40,missense_variant,p.Arg2030Ser,ENST00000368586,;	6191	49	30	SUCCESS
VENTX	27287	.	GRCh37	10	135053795	135053795	+	synonymous_variant	Silent	SNP	G	G	A	rs528996055	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	46	0	ENST00000325980.9:c.762G>A	p.Thr254=	p.T254=	ENST00000325980	NM_014468.3	254	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7675.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGGGGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF24	.	.	ENSP00000357556	.	3/3	.	.	.	.	.	.	.	.	rs528996055,rs775118494,COSM1504557	3/3	PASS	ENST00000325980	Transcript	.	.	ENSG00000151650	13639	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,0,1	.	.	.	.	.	0,0,1	VENTX_HUMAN	VENTX	HGNC	.	.	UPI0000070A25	SNV	VENTX,synonymous_variant,p.%3D,ENST00000325980,;	1273	46	45	SUCCESS
KIAA1217	56243	.	GRCh37	10	24722117	24722117	+	synonymous_variant	Silent	SNP	T	T	C	rs1248556679	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	31	0	ENST00000376454.3:c.747T>C	p.Asp249=	p.D249=	ENST00000376454	NM_019590.3	249	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS31165.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATGTAAG	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,synonymous_variant,p.%3D,ENST00000430453,;KIAA1217,synonymous_variant,p.%3D,ENST00000376454,;KIAA1217,synonymous_variant,p.%3D,ENST00000376456,;KIAA1217,synonymous_variant,p.%3D,ENST00000376452,;KIAA1217,synonymous_variant,p.%3D,ENST00000458595,;KIAA1217,synonymous_variant,p.%3D,ENST00000438429,;KIAA1217,synonymous_variant,p.%3D,ENST00000376462,;	777	31	36	SUCCESS
MYO3A	53904	.	GRCh37	10	26385344	26385344	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	260	87	323	0	ENST00000265944.5:c.1597T>A	p.Tyr533Asn	p.Y533N	ENST00000265944	NM_017433.4	533	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS7148.1	1597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTATGCT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	16/35	.	.	.	.	.	.	.	.	.	16/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Tyr533Asn,ENST00000265944,;MYO3A,missense_variant,p.Tyr533Asn,ENST00000543632,;	1763	323	347	SUCCESS
GAD2	2572	.	GRCh37	10	26518688	26518688	+	synonymous_variant	Silent	SNP	T	T	C	rs375159804	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	70	0	ENST00000259271.3:c.822T>C	p.Ile274=	p.I274=	ENST00000259271	NM_000818.2	274	atT/atC	0	A:0.0002	.	.	.	.	C	I	protein_coding	YES	CCDS7149.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATTGCCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11999:SF77,hmmpanther:PTHR11999,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	A:0	ENSP00000365437	.	7/16	.	.	.	.	.	.	.	.	rs375159804	7/16	PASS	ENST00000376261	Transcript	.	.	ENSG00000136750	4093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCE2_HUMAN	GAD2	HGNC	Q9UGI5_HUMAN,Q5VZ30_HUMAN	.	UPI0000033835	SNV	GAD2,synonymous_variant,p.%3D,ENST00000259271,;GAD2,synonymous_variant,p.%3D,ENST00000376261,;GAD2,downstream_gene_variant,,ENST00000376248,;	1325	70	47	SUCCESS
ANKRD26	22852	.	GRCh37	10	27371759	27371759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	386	129	623	1	ENST00000376087.4:c.713A>G	p.Asp238Gly	p.D238G	ENST00000376087	NM_014915.2	238	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS41499.1	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCATCCACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	6/34	.	.	.	.	.	.	.	.	.	6/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.228)	.	tolerated(0.17)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Asp238Gly,ENST00000376087,;ANKRD26,missense_variant,p.Asp238Gly,ENST00000436985,;ANKRD26,upstream_gene_variant,,ENST00000466890,;	879	624	516	SUCCESS
GDF10	2662	.	GRCh37	10	48429198	48429198	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	87	0	ENST00000224605.2:c.688A>T	p.Arg230Trp	p.R230W	ENST00000224605	NM_004962.3	230	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7220.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTCTCCT	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,PIRSF_domain:PIRSF037403	.	.	ENSP00000224605	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000224605	Transcript	.	.	ENSG00000107623	4215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	deleterious(0)	.	BMP3B_HUMAN	GDF10	HGNC	Q8N6T2_HUMAN	.	UPI0000126A13	SNV	GDF10,missense_variant,p.Arg230Trp,ENST00000224605,;	954	87	82	SUCCESS
C10orf71	118461	.	GRCh37	10	50531471	50531471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	125	0	ENST00000374144.3:c.881C>A	p.Ala294Asp	p.A294D	ENST00000374144		294	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS44387.1	881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCTGGAA	NONE	.	.	.	.	.	ENSP00000363259	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374144	Transcript	.	.	ENSG00000177354	26973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	tolerated(0.11)	.	CJ071_HUMAN	C10orf71	HGNC	.	.	UPI0000161572	SNV	C10orf71,missense_variant,p.Ala294Asp,ENST00000374144,;C10orf71,missense_variant,p.Ala294Asp,ENST00000323868,;	1169	125	96	SUCCESS
FAM21A	0	.	GRCh37	10	51829338	51829338	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782121168	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	36	190	1	ENST00000282633.5:c.158A>T	p.Gln53Leu	p.Q53L	ENST00000282633	NM_001005751.1	53	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41527.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCAAACTA	NONE	byFrequency	.	hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669	.	.	ENSP00000282633	.	3/31	.	.	.	.	.	.	.	.	rs782121168	3/31	PASS	ENST00000282633	Transcript	.	.	ENSG00000099290	23416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FA21A_HUMAN	FAM21A	HGNC	Q6P0Q7_HUMAN,Q5SNT8_HUMAN,B4E255_HUMAN	.	UPI000044FEAB	SNV	FAM21A,missense_variant,p.Gln53Leu,ENST00000351071,;FAM21A,missense_variant,p.Gln53Leu,ENST00000282633,;FAM21A,missense_variant,p.Gln53Leu,ENST00000314664,;FAM21A,non_coding_transcript_exon_variant,,ENST00000492914,;RP11-324H6.5,upstream_gene_variant,,ENST00000456967,;FAM21A,missense_variant,p.Gln53Leu,ENST00000434114,;	203	191	159	SUCCESS
TMEM26	219623	.	GRCh37	10	63212811	63212811	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	92	0	ENST00000399298.3:c.29T>C	p.Leu10Pro	p.L10P	ENST00000399298	NM_178505.6	10	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41530.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGGGCG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF09772,hmmpanther:PTHR22168:SF2,hmmpanther:PTHR22168	.	.	ENSP00000382237	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000399298	Transcript	.	.	ENSG00000196932	28550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TMM26_HUMAN	TMEM26	HGNC	.	.	UPI00001C0B3F	SNV	TMEM26,missense_variant,p.Leu10Pro,ENST00000399298,;TMEM26,missense_variant,p.Leu10Pro,ENST00000399293,;RP11-809M12.1,non_coding_transcript_exon_variant,,ENST00000389640,;TMEM26,missense_variant,p.Leu10Pro,ENST00000503886,;TMEM26,missense_variant,p.Leu10Pro,ENST00000488505,;	398	92	84	SUCCESS
GRID1	2894	.	GRCh37	10	87379775	87379775	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	144	0	ENST00000327946.7:c.2209T>G	p.Tyr737Asp	p.Y737D	ENST00000327946	NM_017551.2	737	Tac/Gac	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS31236.1	2209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTAGTTCC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Pfam_domain:PF00060,Pfam_domain:PF00497,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000330148	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000327946	Transcript	.	.	ENSG00000182771	4575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRID1_HUMAN	GRID1	HGNC	B7Z7L0_HUMAN	.	UPI00001D8051	SNV	GRID1,missense_variant,p.Tyr308Asp,ENST00000536331,;GRID1,missense_variant,p.Tyr737Asp,ENST00000327946,;GRID1,intron_variant,,ENST00000464741,;	2295	144	69	SUCCESS
ANKRD1	27063	.	GRCh37	10	92678913	92678913	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	58	0	ENST00000371697.3:c.320T>C	p.Val107Ala	p.V107A	ENST00000371697	NM_014391.2	107	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS7412.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTACAACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24126,hmmpanther:PTHR24126:SF7	.	.	ENSP00000360762	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000371697	Transcript	1	.	ENSG00000148677	15819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.84)	.	ANKR1_HUMAN	ANKRD1	HGNC	.	.	UPI00000735C1	SNV	ANKRD1,missense_variant,p.Val107Ala,ENST00000371697,;RNU6-740P,downstream_gene_variant,,ENST00000364734,;	569	58	57	SUCCESS
MYOF	26509	.	GRCh37	10	95072901	95072901	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	94	0	ENST00000359263.4:c.5765A>T	p.Asp1922Val	p.D1922V	ENST00000359263	NM_013451.3	1922	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS41551.1	5765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGTCCAAT	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,Gene3D:2.60.40.150	.	.	ENSP00000352208	.	51/54	.	.	.	.	.	.	.	.	.	51/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	deleterious(0.01)	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,missense_variant,p.Asp1912Val,ENST00000371502,;MYOF,missense_variant,p.Asp1909Val,ENST00000358334,;MYOF,missense_variant,p.Asp1922Val,ENST00000371501,;MYOF,missense_variant,p.Asp1922Val,ENST00000359263,;MYOF,3_prime_UTR_variant,,ENST00000463743,;	5765	94	71	SUCCESS
PIK3AP1	118788	.	GRCh37	10	98369550	98369550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	49	125	0	ENST00000339364.5:c.2089G>T	p.Gly697Cys	p.G697C	ENST00000339364	NM_152309.2	697	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31259.1	2089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCACTCT	NONE	.	.	hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF9	.	.	ENSP00000339826	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000339364	Transcript	.	.	ENSG00000155629	30034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	tolerated(0.06)	.	BCAP_HUMAN	PIK3AP1	HGNC	.	.	UPI00001F947F	SNV	PIK3AP1,missense_variant,p.Gly697Cys,ENST00000339364,;PIK3AP1,missense_variant,p.Gly519Cys,ENST00000371110,;PIK3AP1,missense_variant,p.Gly296Cys,ENST00000371109,;PIK3AP1,non_coding_transcript_exon_variant,,ENST00000489982,;PIK3AP1,non_coding_transcript_exon_variant,,ENST00000467625,;	2209	125	96	SUCCESS
ARHGAP19	84986	.	GRCh37	10	99025682	99025682	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749732728	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	123	0	ENST00000358531.4:c.257A>T	p.Lys86Met	p.K86M	ENST00000358531	NM_001204300.1	86	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS7454.2	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTTAAGG	NONE	.	.	hmmpanther:PTHR14963:SF2,hmmpanther:PTHR14963	.	.	ENSP00000351333	.	2/12	.	.	.	.	.	.	.	.	rs749732728	2/12	PASS	ENST00000358531	Transcript	.	.	ENSG00000213390	23724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	RHG19_HUMAN	ARHGAP19	HGNC	Q8NA01_HUMAN	.	UPI000013EA3D	SNV	ARHGAP19,missense_variant,p.Lys77Met,ENST00000371027,;ARHGAP19,missense_variant,p.Lys86Met,ENST00000358531,;ARHGAP19-SLIT1,missense_variant,p.Lys86Met,ENST00000316676,;ARHGAP19-SLIT1,missense_variant,p.Lys86Met,ENST00000453547,;ARHGAP19,missense_variant,p.Lys77Met,ENST00000355366,;ARHGAP19-SLIT1,missense_variant,p.Lys86Met,ENST00000358308,;ARHGAP19,intron_variant,,ENST00000466484,;ARHGAP19,missense_variant,p.Lys85Met,ENST00000492211,;ARHGAP19-SLIT1,missense_variant,p.Lys86Met,ENST00000479633,;ARHGAP19,non_coding_transcript_exon_variant,,ENST00000493068,;	286	123	105	SUCCESS
TRPC6	7225	.	GRCh37	11	101323689	101323689	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	99	0	ENST00000344327.3:c.2793A>T	p.Arg931Ser	p.R931S	ENST00000344327	NM_004621.5	931	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS8311.1	2793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATCTATT	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Prints_domain:PR01647	.	.	ENSP00000340913	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious_low_confidence(0)	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,missense_variant,p.Arg853Ser,ENST00000532133,;TRPC6,missense_variant,p.Arg815Ser,ENST00000348423,;TRPC6,missense_variant,p.Arg931Ser,ENST00000344327,;TRPC6,missense_variant,p.Arg876Ser,ENST00000360497,;TRPC6,downstream_gene_variant,,ENST00000532184,;	3218	99	77	SUCCESS
TRPC6	7225	.	GRCh37	11	101375297	101375297	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	84	0	ENST00000344327.3:c.403A>T	p.Asn135Tyr	p.N135Y	ENST00000344327	NM_004621.5	135	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8311.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATTCTGGC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000340913	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,missense_variant,p.Asn135Tyr,ENST00000532133,;TRPC6,missense_variant,p.Asn135Tyr,ENST00000348423,;TRPC6,missense_variant,p.Asn135Tyr,ENST00000344327,;TRPC6,missense_variant,p.Asn135Tyr,ENST00000360497,;TRPC6,downstream_gene_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;	828	84	86	SUCCESS
MUC6	4588	.	GRCh37	11	1017715	1017715	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	19	214	1	ENST00000421673.2:c.5086T>A	p.Ser1696Thr	p.S1696T	ENST00000421673	NM_005961.2	1696	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS44513.1	5086	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGAATGTA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,Low_complexity_(Seg):seg	.	.	ENSP00000406861	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Ser1696Thr,ENST00000421673,;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;	5137	215	174	SUCCESS
MMP12	4321	.	GRCh37	11	102733754	102733754	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	58	0	ENST00000532855.1:n.1586T>A		p.*529*	ENST00000532855				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACACTGAG	NONE	.	.	.	.	.	.	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MMP12	HGNC	.	.	.	SNV	MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;MMP12,non_coding_transcript_exon_variant,,ENST00000326227,;	1586	58	43	SUCCESS
CASP4	837	.	GRCh37	11	104825723	104825723	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	60	0	ENST00000444739.2:c.13A>T	p.Asn5Tyr	p.N5Y	ENST00000444739	NM_001225.3	5	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8327.1	13	MUTECT|MUSE	.	GTGGTTGCCTT	NONE	.	.	PROSITE_profiles:PS50209,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF137,Pfam_domain:PF00619,Gene3D:1.10.533.10,PIRSF_domain:PIRSF038001,SMART_domains:SM00114,Superfamily_domains:SSF47986	.	.	ENSP00000388566	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000444739	Transcript	.	.	ENSG00000196954	1505	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.579)	.	tolerated(0.06)	.	CASP4_HUMAN	CASP4	HGNC	Q7KYX7_HUMAN,E9PMT1_HUMAN	.	UPI000003AEFA	SNV	CASP4,missense_variant,p.Asn5Tyr,ENST00000444739,;CASP4,missense_variant,p.Asn5Tyr,ENST00000417440,;CASP4,5_prime_UTR_variant,,ENST00000393150,;CASP4,non_coding_transcript_exon_variant,,ENST00000531333,;CASP4,non_coding_transcript_exon_variant,,ENST00000529183,;CASP4,non_coding_transcript_exon_variant,,ENST00000531546,;CASP4,non_coding_transcript_exon_variant,,ENST00000524843,;CASP4,non_coding_transcript_exon_variant,,ENST00000533730,;CASP4,upstream_gene_variant,,ENST00000529565,;	924	60	53	SUCCESS
GRIA4	2893	.	GRCh37	11	105782845	105782845	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	30	0	ENST00000282499.5:c.1269+1574T>C		p.*423*	ENST00000282499	NM_000829.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8333.1	.	RADIA|MUTECT|MUSE	.	AGAAATAGATG	NONE	.	.	.	.	.	ENSP00000282499	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODIFIER	10/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,3_prime_UTR_variant,,ENST00000428631,;GRIA4,3_prime_UTR_variant,,ENST00000393125,;GRIA4,intron_variant,,ENST00000282499,;GRIA4,intron_variant,,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,;GRIA4,intron_variant,,ENST00000525187,;	.	30	28	SUCCESS
DSCAML1	57453	.	GRCh37	11	117314605	117314605	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	32	0	ENST00000321322.6:c.4039A>T	p.Lys1347Ter	p.K1347*	ENST00000321322	NM_020693.2	1347	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS8384.1	4039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTTGCCAG	NONE	.	.	PROSITE_profiles:PS50853,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000315465	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,stop_gained,p.Lys1077Ter,ENST00000527706,;DSCAML1,stop_gained,p.Lys1347Ter,ENST00000321322,;	4041	32	31	SUCCESS
TMPRSS13	84000	.	GRCh37	11	117789473	117789473	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	63	0	ENST00000524993.1:c.102A>C	p.Ala34=	p.A34=	ENST00000524993	NM_001077263.2	34	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS41721.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGCCCG	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037935	.	.	ENSP00000434279	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000524993	Transcript	.	.	ENSG00000137747	29808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TMPRSS13	HGNC	Q1RMF8_HUMAN,E9PRA0_HUMAN	.	UPI0000E5923F	SNV	TMPRSS13,synonymous_variant,p.%3D,ENST00000526090,;TMPRSS13,synonymous_variant,p.%3D,ENST00000524993,;TMPRSS13,synonymous_variant,p.%3D,ENST00000430170,;TMPRSS13,synonymous_variant,p.%3D,ENST00000528626,;TMPRSS13,synonymous_variant,p.%3D,ENST00000445164,;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	160	63	68	SUCCESS
PHLDB1	23187	.	GRCh37	11	118502989	118502989	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	40	159	0	ENST00000361417.2:c.2355A>T	p.Thr785=	p.T785=	ENST00000361417	NM_015157.3	785	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS8401.1	2355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACAGGCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16	.	.	ENSP00000354498	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000361417	Transcript	.	.	ENSG00000019144	23697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHLB1_HUMAN	PHLDB1	HGNC	.	.	UPI0000192101	SNV	PHLDB1,synonymous_variant,p.%3D,ENST00000361417,;PHLDB1,synonymous_variant,p.%3D,ENST00000356063,;AP002954.3,upstream_gene_variant,,ENST00000530198,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000534672,;PHLDB1,intron_variant,,ENST00000534140,;PHLDB1,downstream_gene_variant,,ENST00000530708,;PHLDB1,downstream_gene_variant,,ENST00000527259,;PHLDB1,upstream_gene_variant,,ENST00000528875,;PHLDB1,downstream_gene_variant,,ENST00000526374,;PHLDB1,downstream_gene_variant,,ENST00000532639,;PHLDB1,upstream_gene_variant,,ENST00000527500,;PHLDB1,synonymous_variant,p.%3D,ENST00000528594,;PHLDB1,synonymous_variant,p.%3D,ENST00000525698,;PHLDB1,synonymous_variant,p.%3D,ENST00000530994,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000531862,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,upstream_gene_variant,,ENST00000526699,;	2766	159	133	SUCCESS
DKK3	27122	.	GRCh37	11	11987363	11987363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	33	0	ENST00000326932.4:c.823C>T	p.Pro275Ser	p.P275S	ENST00000326932	NM_013253.4	275	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7808.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGCTGGC	NONE	.	.	hmmpanther:PTHR12113,Gene3D:2.10.80.10	.	.	ENSP00000379762	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000396505	Transcript	.	.	ENSG00000050165	2893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.496)	.	deleterious(0.02)	.	DKK3_HUMAN	DKK3	HGNC	E9PKW6_HUMAN	.	UPI00001694CA	SNV	DKK3,missense_variant,p.Pro275Ser,ENST00000396505,;DKK3,missense_variant,p.Pro247Ser,ENST00000450094,;DKK3,missense_variant,p.Pro275Ser,ENST00000525493,;DKK3,missense_variant,p.Pro275Ser,ENST00000326932,;DKK3,downstream_gene_variant,,ENST00000534511,;DKK3,downstream_gene_variant,,ENST00000529338,;DKK3,downstream_gene_variant,,ENST00000533813,;DKK3,non_coding_transcript_exon_variant,,ENST00000528188,;DKK3,intron_variant,,ENST00000527132,;DKK3,downstream_gene_variant,,ENST00000532873,;DKK3,downstream_gene_variant,,ENST00000525927,;DKK3,downstream_gene_variant,,ENST00000532372,;	1062	33	36	SUCCESS
CLMP	79827	.	GRCh37	11	122945480	122945480	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	76	0	ENST00000448775.2:c.751T>A	p.Leu251Met	p.L251M	ENST00000448775	NM_024769.2	251	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS8441.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAGAGGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF73	.	.	ENSP00000405577	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000448775	Transcript	.	.	ENSG00000166250	24039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.01)	.	CLMP_HUMAN	CLMP	HGNC	.	.	UPI0000047815	SNV	CLMP,missense_variant,p.Leu251Met,ENST00000448775,;CLMP,non_coding_transcript_exon_variant,,ENST00000530371,;CLMP,non_coding_transcript_exon_variant,,ENST00000527977,;	1092	76	55	SUCCESS
OR6T1	219874	.	GRCh37	11	123813888	123813888	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs139614081	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	163	0	ENST00000321252.2:c.658T>C	p.Cys220Arg	p.C220R	ENST00000321252	NM_001005187.1	220	Tgc/Cgc	0	G:0.0005	.	.	.	.	G	C/R	protein_coding	YES	CCDS31700.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCAGGCAT	BUFFER|p.S217F|c.650C>T|3	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF91,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	G:0.0001	ENSP00000325203	.	1/1	.	.	.	.	.	.	.	.	rs139614081	1/1	PASS	ENST00000321252	Transcript	.	.	ENSG00000181499	14848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	tolerated(0.26)	.	OR6T1_HUMAN	OR6T1	HGNC	.	.	UPI0000040A85	SNV	OR6T1,missense_variant,p.Cys220Arg,ENST00000321252,;OR4D5,downstream_gene_variant,,ENST00000307033,;	693	163	117	SUCCESS
MSANTD2	79684	.	GRCh37	11	124637132	124637132	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	30	140	0	ENST00000374979.3:c.1620A>T	p.Ala540=	p.A540=	ENST00000374979		540	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8454.1	1464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTGCGGA	NONE	.	.	hmmpanther:PTHR21654,hmmpanther:PTHR21654:SF2	.	.	ENSP00000239614	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000239614	Transcript	.	.	ENSG00000120458	26266	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSD2_HUMAN	MSANTD2	HGNC	.	.	UPI000013CA88	SNV	MSANTD2,synonymous_variant,p.%3D,ENST00000526629,;MSANTD2,synonymous_variant,p.%3D,ENST00000374979,;MSANTD2,synonymous_variant,p.%3D,ENST00000239614,;MSANTD2,downstream_gene_variant,,ENST00000524950,;ESAM,upstream_gene_variant,,ENST00000435477,;ESAM,upstream_gene_variant,,ENST00000444566,;ESAM,upstream_gene_variant,,ENST00000442070,;ESAM,upstream_gene_variant,,ENST00000278927,;RP11-677M14.3,downstream_gene_variant,,ENST00000504932,;RP11-677M14.3,downstream_gene_variant,,ENST00000532579,;MSANTD2,downstream_gene_variant,,ENST00000533514,;MSANTD2,downstream_gene_variant,,ENST00000527140,;ESAM,upstream_gene_variant,,ENST00000417453,;	1757	140	111	SUCCESS
CYP2R1	120227	.	GRCh37	11	14902118	14902118	+	synonymous_variant	Silent	SNP	T	T	G	rs782640540	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	87	0	ENST00000334636.5:c.564A>C	p.Ser188=	p.S188=	ENST00000334636	NM_024514.4	188	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7818.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTTGAAAC	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF48,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000334592	.	3/5	.	.	.	.	.	.	.	.	rs782640540	3/5	PASS	ENST00000334636	Transcript	.	.	ENSG00000186104	20580	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2R1_HUMAN	CYP2R1	HGNC	.	.	UPI000003F04B	SNV	CYP2R1,synonymous_variant,p.%3D,ENST00000334636,;CYP2R1,intron_variant,,ENST00000532378,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000526489,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000532641,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000526276,;CYP2R1,downstream_gene_variant,,ENST00000529043,;CYP2R1,3_prime_UTR_variant,,ENST00000534686,;CYP2R1,3_prime_UTR_variant,,ENST00000530609,;CYP2R1,3_prime_UTR_variant,,ENST00000532805,;CYP2R1,intron_variant,,ENST00000525015,;	611	87	85	SUCCESS
KRTAP5-6	440023	.	GRCh37	11	1718756	1718756	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	113	0	ENST00000382160.1:c.281G>A	p.Cys94Tyr	p.C94Y	ENST00000382160	NM_001012416.1	94	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS31332.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGCTACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262	.	.	ENSP00000371595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382160	Transcript	.	.	ENSG00000205864	23600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	KRA56_HUMAN	KRTAP5-6	HGNC	.	.	UPI0000376060	SNV	KRTAP5-6,missense_variant,p.Cys94Tyr,ENST00000382160,;	332	113	84	SUCCESS
ELP4	26610	.	GRCh37	11	31669364	31669364	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	42	108	0	ENST00000350638.5:c.1003A>T	p.Arg335Ter	p.R335*	ENST00000350638	NM_019040.3	335	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS7875.2	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGAGAGAA	NONE	.	.	hmmpanther:PTHR12896:SF1,hmmpanther:PTHR12896,Pfam_domain:PF05625	.	.	ENSP00000298937	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000350638	Transcript	.	.	ENSG00000109911	1171	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELP4_HUMAN	ELP4	HGNC	Q9H4R8_HUMAN	.	UPI0000074047	SNV	ELP4,stop_gained,p.Arg336Ter,ENST00000379163,;ELP4,stop_gained,p.Arg335Ter,ENST00000395934,;ELP4,stop_gained,p.Arg335Ter,ENST00000350638,;Z83001.1,intron_variant,,ENST00000429821,;ELP4,3_prime_UTR_variant,,ENST00000474374,;	1038	108	134	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33566763	33566763	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	120	0	ENST00000321505.4:c.2333T>A	p.Leu778Gln	p.L778Q	ENST00000321505		778	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44565.2	2333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCTGACAT	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,missense_variant,p.Leu778Gln,ENST00000321505,;KIAA1549L,missense_variant,p.Leu176Gln,ENST00000526400,;KIAA1549L,missense_variant,p.Leu784Gln,ENST00000389726,;KIAA1549L,missense_variant,p.Leu784Gln,ENST00000265654,;	2513	120	100	SUCCESS
CD44	960	.	GRCh37	11	35226078	35226078	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	80	0	ENST00000428726.2:c.1173T>A	p.Ser391Arg	p.S391R	ENST00000428726	NM_000610.3	391	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS7897.1	1173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGTACAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6	.	.	ENSP00000398632	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000428726	Transcript	.	.	ENSG00000026508	1681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.2)	.	CD44_HUMAN	CD44	HGNC	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN	.	UPI000013D3FE	SNV	CD44,missense_variant,p.Ser391Arg,ENST00000437706,;CD44,missense_variant,p.Ser43Arg,ENST00000528672,;CD44,missense_variant,p.Ser348Arg,ENST00000415148,;CD44,missense_variant,p.Ser45Arg,ENST00000526553,;CD44,missense_variant,p.Ser103Arg,ENST00000531110,;CD44,missense_variant,p.Ser391Arg,ENST00000428726,;CD44,missense_variant,p.Ser392Arg,ENST00000433354,;CD44,intron_variant,,ENST00000449691,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000525211,;CD44,intron_variant,,ENST00000442151,;CD44,intron_variant,,ENST00000278386,;CD44,intron_variant,,ENST00000263398,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000434472,;CD44,intron_variant,,ENST00000525685,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000533222,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000531873,;CD44,intron_variant,,ENST00000526000,;CD44,intron_variant,,ENST00000433892,;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000527889,;CD44,downstream_gene_variant,,ENST00000528455,;CD44,downstream_gene_variant,,ENST00000524922,;CD44,intron_variant,,ENST00000528086,;CD44,downstream_gene_variant,,ENST00000525209,;CD44,non_coding_transcript_exon_variant,,ENST00000534296,;CD44,non_coding_transcript_exon_variant,,ENST00000534082,;CD44,non_coding_transcript_exon_variant,,ENST00000525241,;CD44,intron_variant,,ENST00000425428,;CD44,intron_variant,,ENST00000525293,;CD44,upstream_gene_variant,,ENST00000532339,;CD44,downstream_gene_variant,,ENST00000525348,;	1296	80	79	SUCCESS
LDLRAD3	143458	.	GRCh37	11	36250861	36250861	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	44	184	0	ENST00000315571.5:c.952A>T	p.Ser318Cys	p.S318C	ENST00000315571	NM_174902.2	318	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS31462.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGCCAC	NONE	.	.	.	.	.	ENSP00000318607	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315571	Transcript	.	.	ENSG00000179241	27046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated_low_confidence(0.06)	.	LRAD3_HUMAN	LDLRAD3	HGNC	.	.	UPI000003B0FB	SNV	LDLRAD3,missense_variant,p.Ser318Cys,ENST00000315571,;LDLRAD3,missense_variant,p.Ser269Cys,ENST00000528989,;LDLRAD3,missense_variant,p.Ser308Cys,ENST00000524419,;LDLRAD3,non_coding_transcript_exon_variant,,ENST00000532490,;LDLRAD3,downstream_gene_variant,,ENST00000529759,;LDLRAD3,downstream_gene_variant,,ENST00000534091,;	973	184	178	SUCCESS
RAG2	5897	.	GRCh37	11	36614484	36614484	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	69	0	ENST00000311485.3:c.1235A>T	p.Glu412Val	p.E412V	ENST00000311485	NM_000536.3	412	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7903.1	1235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTCAGAC	NONE	.	.	hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0	.	.	ENSP00000308620	.	2/2	.	.	.	.	.	.	.	.	COSM4032628	2/2	PASS	ENST00000311485	Transcript	.	.	ENSG00000175097	9832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated(0.28)	1	RAG2_HUMAN	RAG2	HGNC	Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN	.	UPI00001330E9	SNV	RAG2,missense_variant,p.Glu412Val,ENST00000311485,;C11orf74,upstream_gene_variant,,ENST00000530697,;C11orf74,upstream_gene_variant,,ENST00000534635,;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000347206,;RAG2,downstream_gene_variant,,ENST00000529083,;C11orf74,upstream_gene_variant,,ENST00000527108,;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000446510,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000334307,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	1397	69	52	SUCCESS
PKP3	11187	.	GRCh37	11	399156	399156	+	synonymous_variant	Silent	SNP	A	A	G	rs1477310764	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	96	0	ENST00000331563.2:c.1233A>G	p.Thr411=	p.T411=	ENST00000331563	NM_007183.2	411	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS7695.1	1233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACACTGCG	NONE	.	.	hmmpanther:PTHR10372:SF1,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000331678	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000331563	Transcript	.	.	ENSG00000184363	9025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKP3_HUMAN	PKP3	HGNC	E9PRW6_HUMAN,E9PQ15_HUMAN,E9PKC4_HUMAN,E9PJR7_HUMAN	.	UPI0000034ACC	SNV	PKP3,synonymous_variant,p.%3D,ENST00000331563,;PKP3,downstream_gene_variant,,ENST00000528036,;PKP3,upstream_gene_variant,,ENST00000525642,;PKP3,downstream_gene_variant,,ENST00000531857,;PKP3,downstream_gene_variant,,ENST00000533249,;PKP3,downstream_gene_variant,,ENST00000527442,;PKP3,downstream_gene_variant,,ENST00000534401,;PKP3,downstream_gene_variant,,ENST00000530695,;PKP3,non_coding_transcript_exon_variant,,ENST00000526971,;PKP3,downstream_gene_variant,,ENST00000524646,;PKP3,downstream_gene_variant,,ENST00000533069,;	1309	96	68	SUCCESS
API5	8539	.	GRCh37	11	43350345	43350346	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TA	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	207	42	264	0	ENST00000531273.1:c.1029_1030insTA	p.Glu344Ter	p.E344*	ENST00000531273		343	-/TA	0	.	.	.	.	.	TA	-/X	protein_coding	YES	CCDS44572.1	1029-1030	INDELOCATOR*|VARSCANI*|PINDEL	.	TATGTGGAATG	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF05918,hmmpanther:PTHR12758	.	.	ENSP00000431391	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000531273	Transcript	.	.	ENSG00000166181	594	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	API5_HUMAN	API5	HGNC	.	.	UPI0000E229DE	insertion	API5,frameshift_variant,p.Glu344Ter,ENST00000378852,;API5,frameshift_variant,p.Glu290Ter,ENST00000420461,;API5,frameshift_variant,p.Glu159Ter,ENST00000526394,;API5,frameshift_variant,p.Glu344Ter,ENST00000534600,;API5,frameshift_variant,p.Glu344Ter,ENST00000531273,;API5,frameshift_variant,p.Glu333Ter,ENST00000455725,;API5,intron_variant,,ENST00000534695,;RP11-484D2.2,non_coding_transcript_exon_variant,,ENST00000526220,;Y_RNA,upstream_gene_variant,,ENST00000516843,;API5,upstream_gene_variant,,ENST00000529932,;API5,upstream_gene_variant,,ENST00000532267,;	1168-1169	264	249	SUCCESS
EXT2	2132	.	GRCh37	11	44253901	44253901	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	114	0	ENST00000343631.3:c.1663-2A>T		p.X555_splice	ENST00000343631		555		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53618.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTAGGTCT	NONE	.	.	.	.	.	ENSP00000379032	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395673	Transcript	.	.	ENSG00000151348	3513	.	.	HIGH	10/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXT2_HUMAN	EXT2	HGNC	E9PNL9_HUMAN,E9PJA5_HUMAN	.	UPI0000EE3A5C	SNV	EXT2,splice_acceptor_variant,,ENST00000358681,;EXT2,splice_acceptor_variant,,ENST00000533608,;EXT2,splice_acceptor_variant,,ENST00000395673,;EXT2,splice_acceptor_variant,,ENST00000343631,;EXT2,splice_acceptor_variant,,ENST00000528159,;EXT2,splice_acceptor_variant,,ENST00000531161,;	.	114	75	SUCCESS
CREB3L1	90993	.	GRCh37	11	46329400	46329400	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	41	187	0	ENST00000529193.1:c.365A>T	p.Lys122Ile	p.K122I	ENST00000529193	NM_052854.3	122	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS53620.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAAACTGT	NONE	.	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24	.	.	ENSP00000434939	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000529193	Transcript	.	.	ENSG00000157613	18856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	deleterious(0.02)	.	CR3L1_HUMAN	CREB3L1	HGNC	E9PK33_HUMAN	.	UPI000004ABFF	SNV	CREB3L1,missense_variant,p.Lys122Ile,ENST00000288400,;CREB3L1,missense_variant,p.Lys76Ile,ENST00000534787,;CREB3L1,missense_variant,p.Lys122Ile,ENST00000529193,;CREB3L1,upstream_gene_variant,,ENST00000530518,;CREB3L1,upstream_gene_variant,,ENST00000527342,;	816	187	143	SUCCESS
OR51L1	119682	.	GRCh37	11	5020231	5020231	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs61910724	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	60	109	0	ENST00000321543.1:c.19A>G	p.Ser7Gly	p.S7G	ENST00000321543	NM_001004755.1	7	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS31369.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACAGTGAT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	rs61910724	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.08)	.	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,missense_variant,p.Ser7Gly,ENST00000321543,;	19	109	99	SUCCESS
OR52E2	119678	.	GRCh37	11	5080160	5080160	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	33	170	0	ENST00000321522.2:c.698A>T	p.Glu233Val	p.E233V	ENST00000321522	NM_001005164.2	233	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS31371.1	698	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTTCATGA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF118,PROSITE_profiles:PS50262	.	.	ENSP00000322088	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321522	Transcript	.	.	ENSG00000176787	14769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.747)	.	deleterious(0)	.	O52E2_HUMAN	OR52E2	HGNC	.	.	UPI0000046AE3	SNV	OR52E2,missense_variant,p.Glu233Val,ENST00000321522,;	698	170	143	SUCCESS
OR51B6	390058	.	GRCh37	11	5373112	5373112	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	51	99	0	ENST00000380219.1:c.375C>T	p.Arg125=	p.R125=	ENST00000380219	NM_001004750.1	125	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31379.1	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCGCAGCCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF22,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380219	Transcript	.	.	ENSG00000176239	19600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51B6_HUMAN	OR51B6	HGNC	.	.	UPI000014017D	SNV	OR51B6,synonymous_variant,p.%3D,ENST00000380219,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.31,upstream_gene_variant,,ENST00000450768,;	375	99	99	SUCCESS
OR5D18	219438	.	GRCh37	11	55587486	55587486	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	130	0	ENST00000333976.4:c.381T>A	p.Ile127=	p.I127=	ENST00000333976	NM_001001952.1	127	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31510.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATTTGCAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	COSM3967589	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,synonymous_variant,p.%3D,ENST00000333976,;	401	130	100	SUCCESS
OR5F1	338674	.	GRCh37	11	55761572	55761572	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	31	161	0	ENST00000278409.1:c.530T>A	p.Phe177Tyr	p.F177Y	ENST00000278409	NM_003697.1	177	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS31515.1	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAAGTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF10,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000278409	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000278409	Transcript	.	.	ENSG00000149133	8343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.05)	.	OR5F1_HUMAN	OR5F1	HGNC	.	.	UPI0000041D19	SNV	OR5F1,missense_variant,p.Phe177Tyr,ENST00000278409,;	530	161	120	SUCCESS
MPEG1	219972	.	GRCh37	11	58978713	58978713	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	87	0	ENST00000361050.3:c.1626T>G	p.Asp542Glu	p.D542E	ENST00000361050	NM_001039396.1	542	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS41650.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGATCTAC	NONE	.	.	hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3	.	.	ENSP00000354335	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361050	Transcript	.	.	ENSG00000197629	29619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.15)	.	MPEG1_HUMAN	MPEG1	HGNC	.	.	UPI0000049D9F	SNV	MPEG1,missense_variant,p.Asp542Glu,ENST00000361050,;DTX4,downstream_gene_variant,,ENST00000227451,;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	1712	87	57	SUCCESS
OR56A4	120793	.	GRCh37	11	6024147	6024147	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	157	0	ENST00000330728.4:c.232T>A	p.Trp78Arg	p.W78R	ENST00000330728	NM_001005179.2	78	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS31404.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCAGCTCT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF60	.	.	ENSP00000328215	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330728	Transcript	.	.	ENSG00000183389	14791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	deleterious(0.01)	.	O56A4_HUMAN	OR56A4	HGNC	.	.	UPI000041A756	SNV	OR56A4,missense_variant,p.Trp78Arg,ENST00000330728,;	278	157	138	SUCCESS
DAGLA	747	.	GRCh37	11	61511593	61511593	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	106	0	ENST00000257215.5:c.2761T>A	p.Phe921Ile	p.F921I	ENST00000257215	NM_006133.2	921	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS31578.1	2761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTTCAAC	NONE	.	.	.	.	.	ENSP00000257215	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000257215	Transcript	.	.	ENSG00000134780	1165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0)	.	DGLA_HUMAN	DAGLA	HGNC	.	.	UPI00001678B3	SNV	DAGLA,missense_variant,p.Phe921Ile,ENST00000257215,;RP11-467L20.10,downstream_gene_variant,,ENST00000541891,;RP11-467L20.10,downstream_gene_variant,,ENST00000536405,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	2877	106	89	SUCCESS
SLC22A12	116085	.	GRCh37	11	64359422	64359422	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs547191924	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	30	0	ENST00000377574.1:c.394G>C	p.Val132Leu	p.V132L	ENST00000377574	NM_144585.3	132	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS8075.1	394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCGTGGCC	NONE	byCluster	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF130,hmmpanther:PTHR24064,Superfamily_domains:SSF103473	.	.	ENSP00000366797	.	1/10	.	.	.	.	.	.	.	.	rs547191924	1/10	PASS	ENST00000377574	Transcript	.	.	ENSG00000197891	17989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.63)	.	deleterious(0)	.	S22AC_HUMAN	SLC22A12	HGNC	G3XAN7_HUMAN	.	UPI0000040C17	SNV	SLC22A12,missense_variant,p.Val132Leu,ENST00000377574,;SLC22A12,missense_variant,p.Val132Leu,ENST00000336464,;SLC22A12,missense_variant,p.Val132Leu,ENST00000377567,;SLC22A12,missense_variant,p.Val132Leu,ENST00000377572,;SLC22A12,5_prime_UTR_variant,,ENST00000473690,;	1141	30	24	SUCCESS
SIPA1	6494	.	GRCh37	11	65417088	65417111	+	inframe_deletion	In_Frame_Del	DEL	CCACCACAGCCAAGCCATCAGTAC	CCACCACAGCCAAGCCATCAGTAC	-	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	CCACCACAGCCAAGCCATCAGTAC	CCACCACAGCCAAGCCATCAGTAC	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	63	0	ENST00000394224.3:c.2585_2608del	p.Thr862_Pro869del	p.T862_P869del	ENST00000394224	NM_153253.29	861	gCCACCACAGCCAAGCCATCAGTACcc/gcc	0	.	.	.	.	.	-	ATTAKPSVP/A	protein_coding	YES	CCDS8108.1	2582-2605	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTGGCCACCACAGCCAAGCCATCAGTACCCAGT	NONE	.	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF14	.	.	ENSP00000377771	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000394224	Transcript	.	.	ENSG00000213445	10885	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIPA1_HUMAN	SIPA1	HGNC	E9PIB3_HUMAN	.	UPI0000135D8A	deletion	SIPA1,inframe_deletion,p.Thr760_Pro767del,ENST00000527525,;SIPA1,inframe_deletion,p.Thr862_Pro869del,ENST00000394224,;SIPA1,inframe_deletion,p.Thr760_Pro767del,ENST00000394227,;SIPA1,inframe_deletion,p.Thr862_Pro869del,ENST00000534313,;RELA,downstream_gene_variant,,ENST00000525693,;RELA,downstream_gene_variant,,ENST00000406246,;RELA,downstream_gene_variant,,ENST00000308639,;MIR4489,downstream_gene_variant,,ENST00000578869,;SIPA1,non_coding_transcript_exon_variant,,ENST00000531339,;SIPA1,upstream_gene_variant,,ENST00000529725,;SIPA1,downstream_gene_variant,,ENST00000530226,;RELA,downstream_gene_variant,,ENST00000526283,;RELA,downstream_gene_variant,,ENST00000531484,;SIPA1,upstream_gene_variant,,ENST00000528699,;	2878-2901	63	35	SUCCESS
CATSPER1	117144	.	GRCh37	11	65787819	65787819	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750657024	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	88	0	ENST00000312106.5:c.2033T>A	p.Leu678Gln	p.L678Q	ENST00000312106	NM_053054.3	678	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS8127.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAGCGCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32	.	.	ENSP00000309052	.	8/12	.	.	.	.	.	.	.	.	rs750657024	8/12	PASS	ENST00000312106	Transcript	.	.	ENSG00000175294	17116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CTSR1_HUMAN	CATSPER1	HGNC	.	.	UPI000045651C	SNV	CATSPER1,missense_variant,p.Leu678Gln,ENST00000312106,;CATSPER1,intron_variant,,ENST00000529244,;	2171	88	83	SUCCESS
CCDC87	55231	.	GRCh37	11	66360350	66360350	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	74	0	ENST00000333861.3:c.137A>T	p.Gln46Leu	p.Q46L	ENST00000333861	NM_018219.2	46	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8145.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACTGCAGA	NONE	.	.	hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1	.	.	ENSP00000328487	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333861	Transcript	.	.	ENSG00000182791	25579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.25)	.	CCD87_HUMAN	CCDC87	HGNC	.	.	UPI000013EFC2	SNV	CCDC87,missense_variant,p.Gln46Leu,ENST00000333861,;CCS,5_prime_UTR_variant,,ENST00000533244,;CCS,upstream_gene_variant,,ENST00000310190,;CCS,upstream_gene_variant,,ENST00000530961,;CCS,upstream_gene_variant,,ENST00000526058,;CCS,upstream_gene_variant,,ENST00000526066,;CCS,upstream_gene_variant,,ENST00000530384,;CCS,upstream_gene_variant,,ENST00000531990,;	205	74	63	SUCCESS
MTL5	0	.	GRCh37	11	68517742	68517742	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	87	0	ENST00000255087.5:c.387A>T	p.Leu129=	p.L129=	ENST00000255087	NM_004923.3	129	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8184.1	387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGTAGCAG	NONE	.	.	hmmpanther:PTHR12446:SF20,hmmpanther:PTHR12446	.	.	ENSP00000255087	.	2/10	.	.	.	.	.	.	.	.	COSM3452504	2/10	PASS	ENST00000255087	Transcript	.	.	ENSG00000132749	7446	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MTL5_HUMAN	MTL5	HGNC	.	.	UPI00001FAE07	SNV	MTL5,synonymous_variant,p.%3D,ENST00000255087,;MTL5,synonymous_variant,p.%3D,ENST00000544963,;MTL5,synonymous_variant,p.%3D,ENST00000443940,;CPT1A,downstream_gene_variant,,ENST00000265641,;CPT1A,downstream_gene_variant,,ENST00000540367,;CPT1A,downstream_gene_variant,,ENST00000376618,;MTL5,non_coding_transcript_exon_variant,,ENST00000432435,;MTL5,upstream_gene_variant,,ENST00000540869,;MTL5,upstream_gene_variant,,ENST00000538944,;	571	87	86	SUCCESS
PDE2A	5138	.	GRCh37	11	72291639	72291639	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	47	217	1	ENST00000334456.5:c.2163T>A	p.Ser721=	p.S721=	ENST00000334456	NM_002599.4	721	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8216.1	2163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCAGAGCT	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF102,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000334910	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000334456	Transcript	.	.	ENSG00000186642	8777	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE2A_HUMAN	PDE2A	HGNC	F5GXX2_HUMAN,C9JPD5_HUMAN	.	UPI000003B340	SNV	PDE2A,synonymous_variant,p.%3D,ENST00000540345,;PDE2A,synonymous_variant,p.%3D,ENST00000334456,;PDE2A,synonymous_variant,p.%3D,ENST00000418754,;PDE2A,synonymous_variant,p.%3D,ENST00000542223,;PDE2A,synonymous_variant,p.%3D,ENST00000420501,;PDE2A,synonymous_variant,p.%3D,ENST00000376450,;PDE2A,synonymous_variant,p.%3D,ENST00000544570,;PDE2A,synonymous_variant,p.%3D,ENST00000444035,;PDE2A,synonymous_variant,p.%3D,ENST00000441209,;PDE2A,downstream_gene_variant,,ENST00000475807,;PDE2A,downstream_gene_variant,,ENST00000538299,;RP11-169D4.2,upstream_gene_variant,,ENST00000545254,;PDE2A,3_prime_UTR_variant,,ENST00000539367,;PDE2A,upstream_gene_variant,,ENST00000536918,;PDE2A,upstream_gene_variant,,ENST00000544239,;	2409	219	193	SUCCESS
RSF1	51773	.	GRCh37	11	77413496	77413496	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1374823422	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	65	0	ENST00000308488.6:c.778A>G	p.Met260Val	p.M260V	ENST00000308488		260	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8253.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATAGGCT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15614,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.49)	.	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	SNV	RSF1,missense_variant,p.Met260Val,ENST00000308488,;RSF1,missense_variant,p.Met229Val,ENST00000360355,;RSF1,missense_variant,p.Met259Val,ENST00000528095,;RSF1,missense_variant,p.Met61Val,ENST00000526324,;RSF1,missense_variant,p.Met8Val,ENST00000480887,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,upstream_gene_variant,,ENST00000532556,;RSF1,non_coding_transcript_exon_variant,,ENST00000534794,;RSF1,upstream_gene_variant,,ENST00000531768,;	1081	65	45	SUCCESS
SBF2	81846	.	GRCh37	11	9868576	9868576	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs769324671	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	117	0	ENST00000256190.8:c.2861A>T	p.Lys954Met	p.K954M	ENST00000256190	NM_030962.3	954	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS31427.1	2861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTTCTCC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00568,Pfam_domain:PF02893,Gene3D:2.30.29.30,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF4	.	.	ENSP00000256190	.	23/40	.	.	.	.	.	.	.	.	rs769324671	23/40	PASS	ENST00000256190	Transcript	.	.	ENSG00000133812	2135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MTMRD_HUMAN	SBF2	HGNC	H0YDZ1_HUMAN	.	UPI00000622D5	SNV	SBF2,missense_variant,p.Lys954Met,ENST00000256190,;RNU7-28P,upstream_gene_variant,,ENST00000516759,;RP11-1H15.2,intron_variant,,ENST00000533659,;SBF2,non_coding_transcript_exon_variant,,ENST00000533770,;	2999	117	90	SUCCESS
SLC5A8	160728	.	GRCh37	12	101560282	101560282	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	92	0	ENST00000536262.2:c.1516A>T	p.Asn506Tyr	p.N506Y	ENST00000536262	NM_145913.3	506	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9080.1	1516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATTGTATA	NONE	.	.	hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121	.	.	ENSP00000445340	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000536262	Transcript	.	.	ENSG00000256870	19119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious(0.01)	.	SC5A8_HUMAN	SLC5A8	HGNC	.	.	UPI000004DAF6	SNV	SLC5A8,missense_variant,p.Asn506Tyr,ENST00000536262,;	2075	92	44	SUCCESS
STAB2	55576	.	GRCh37	12	104071229	104071229	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	59	0	ENST00000388887.2:c.2647-2A>T		p.X883_splice	ENST00000388887	NM_017564.9	883		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31888.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGGCAG	NONE	.	.	.	.	.	ENSP00000373539	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	HIGH	24/68	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,splice_acceptor_variant,,ENST00000388887,;	.	59	37	SUCCESS
CHST11	50515	.	GRCh37	12	105151144	105151144	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	150	0	ENST00000303694.5:c.622T>A	p.Phe208Ile	p.F208I	ENST00000303694	NM_018413.5	208	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS9099.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTTCCAC	NONE	.	.	hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF32,Pfam_domain:PF03567	.	.	ENSP00000305725	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303694	Transcript	.	.	ENSG00000171310	17422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHSTB_HUMAN	CHST11	HGNC	F8VXK3_HUMAN	.	UPI000004A091	SNV	CHST11,missense_variant,p.Phe203Ile,ENST00000549260,;CHST11,missense_variant,p.Phe208Ile,ENST00000303694,;CHST11,downstream_gene_variant,,ENST00000549016,;	1061	150	84	SUCCESS
KLRK1	22914	.	GRCh37	12	10532337	10532337	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs377167821	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	33	166	0	ENST00000240618.6:c.203T>A	p.Ile68Asn	p.I68N	ENST00000240618	NM_007360.3	68	aTt/aAt	0	T:0	.	.	.	.	T	I/N	protein_coding	YES	CCDS8623.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATAATGAAA	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22800:SF14,hmmpanther:PTHR22800	.	T:0.0002	ENSP00000240618	.	4/8	.	.	.	.	.	.	.	.	rs377167821	4/8	PASS	ENST00000240618	Transcript	.	.	ENSG00000213809	18788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	deleterious(0)	.	NKG2D_HUMAN	KLRK1	HGNC	Q8WZ67_HUMAN	.	UPI000013CAB1	SNV	KLRK1,missense_variant,p.Ile68Asn,ENST00000540818,;KLRK1,missense_variant,p.Ile68Asn,ENST00000240618,;RP11-277P12.20,non_coding_transcript_exon_variant,,ENST00000500682,;KLRK1,missense_variant,p.Ile68Asn,ENST00000396451,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591546,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585507,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588263,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588447,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590323,;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRK1,non_coding_transcript_exon_variant,,ENST00000540267,;KLRC4-KLRK1,downstream_gene_variant,,ENST00000591937,;	344	166	125	SUCCESS
MYO1H	283446	.	GRCh37	12	109876380	109876380	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757399287	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	64	0	ENST00000310903.5:c.2201G>A	p.Arg734Gln	p.R734Q	ENST00000310903		734	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS53826.1	2201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCGGAAGG	NONE	byFrequency	.	Superfamily_domains:SSF52540,hmmpanther:PTHR13140:SF353,hmmpanther:PTHR13140,PROSITE_profiles:PS50096	.	.	ENSP00000439182	.	23/32	.	.	.	.	.	.	.	.	rs757399287	23/32	PASS	ENST00000310903	Transcript	.	.	ENSG00000174527	13879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.27)	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,missense_variant,p.Arg744Gln,ENST00000431443,;MYO1H,missense_variant,p.Arg734Gln,ENST00000310903,;MYO1H,upstream_gene_variant,,ENST00000542268,;MYO1H,upstream_gene_variant,,ENST00000543960,;MYO1H,upstream_gene_variant,,ENST00000457826,;	2307	64	44	SUCCESS
UBE3B	89910	.	GRCh37	12	109921745	109921745	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1205668914	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	108	0	ENST00000342494.3:c.241A>T	p.Arg81Trp	p.R81W	ENST00000342494	NM_130466.3	81	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS9129.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCAGGAAA	BUFFER|p.L83L|c.247C>T|3	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF303	.	.	ENSP00000340596	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000342494	Transcript	.	.	ENSG00000151148	13478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0)	.	UBE3B_HUMAN	UBE3B	HGNC	F5H5T5_HUMAN	.	UPI000013DC3B	SNV	UBE3B,missense_variant,p.Arg81Trp,ENST00000340074,;UBE3B,missense_variant,p.Arg81Trp,ENST00000540230,;UBE3B,missense_variant,p.Arg81Trp,ENST00000537063,;UBE3B,missense_variant,p.Arg81Trp,ENST00000280774,;UBE3B,missense_variant,p.Arg81Trp,ENST00000536398,;UBE3B,missense_variant,p.Arg81Trp,ENST00000434735,;UBE3B,missense_variant,p.Arg81Trp,ENST00000342494,;UBE3B,missense_variant,p.Arg81Trp,ENST00000539599,;UBE3B,missense_variant,p.Arg81Trp,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539843,;	836	108	67	SUCCESS
RBM19	9904	.	GRCh37	12	114383647	114383647	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	93	0	ENST00000261741.5:c.1612C>A	p.Gln538Lys	p.Q538K	ENST00000261741	NM_016196.3	538	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS9172.1	1612	MUTECT|MUSE	.	CACTTGACTCT	NONE	.	.	hmmpanther:PTHR24012:SF312,hmmpanther:PTHR24012	.	.	ENSP00000442053	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000545145	Transcript	.	.	ENSG00000122965	29098	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.038)	.	tolerated(0.21)	.	RBM19_HUMAN	RBM19	HGNC	.	.	UPI000013D1EC	SNV	RBM19,missense_variant,p.Gln538Lys,ENST00000545145,;RBM19,missense_variant,p.Gln538Lys,ENST00000392561,;RBM19,missense_variant,p.Gln538Lys,ENST00000261741,;	1691	93	60	SUCCESS
DNAH10	196385	.	GRCh37	12	124298165	124298165	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	112	0	ENST00000409039.3:c.3245A>T	p.Tyr1082Phe	p.Y1082F	ENST00000409039	NM_207437.3	1082	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS9255.2	3245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTATAATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	19/78	.	.	.	.	.	.	.	.	.	19/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Tyr1082Phe,ENST00000409039,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;	3270	112	70	SUCCESS
EP400	57634	.	GRCh37	12	132464277	132464277	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	61	273	0	ENST00000389561.2:c.1374A>T	p.Gly458=	p.G458=	ENST00000389561	NM_015409.4	458	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31929.2	1374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGAAGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	.	ENSP00000374212	.	3/53	.	.	.	.	.	.	.	.	.	3/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,synonymous_variant,p.%3D,ENST00000389562,;EP400,synonymous_variant,p.%3D,ENST00000332482,;EP400,synonymous_variant,p.%3D,ENST00000389561,;EP400,synonymous_variant,p.%3D,ENST00000333577,;EP400,synonymous_variant,p.%3D,ENST00000330386,;	1483	273	163	SUCCESS
POLE	5426	.	GRCh37	12	133219131	133219131	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771399151	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	66	0	ENST00000320574.5:c.4913A>T	p.Asn1638Ile	p.N1638I	ENST00000320574	NM_006231.2	1638	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS9278.1	4913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTTGAGG	NONE	byFrequency	.	hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0,Pfam_domain:PF08490	.	.	ENSP00000322570	.	37/49	.	.	.	.	.	.	.	.	rs771399151	37/49	PASS	ENST00000320574	Transcript	.	.	ENSG00000177084	9177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious(0.01)	.	DPOE1_HUMAN	POLE	HGNC	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN	.	UPI00001FBF97	SNV	POLE,missense_variant,p.Asn1638Ile,ENST00000320574,;POLE,missense_variant,p.Asn1611Ile,ENST00000535270,;POLE,upstream_gene_variant,,ENST00000434528,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000542362,;POLE,upstream_gene_variant,,ENST00000541213,;	4957	66	38	SUCCESS
BICD1	636	.	GRCh37	12	32369351	32369351	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	24	113	0	ENST00000281474.5:c.384A>T	p.Ala128=	p.A128=	ENST00000281474	NM_001714.2	128	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8726.1	384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCAGAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09730,hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233	.	.	ENSP00000281474	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000281474	Transcript	.	.	ENSG00000151746	1049	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BICD1_HUMAN	BICD1	HGNC	.	.	UPI00001AEA67	SNV	BICD1,synonymous_variant,p.%3D,ENST00000281474,;BICD1,synonymous_variant,p.%3D,ENST00000548411,;BICD1,synonymous_variant,p.%3D,ENST00000395758,;	487	113	109	SUCCESS
SLC6A13	6540	.	GRCh37	12	333252	333252	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	105	0	ENST00000343164.4:c.1217A>T	p.Tyr406Phe	p.Y406F	ENST00000343164	NM_016615.4	406	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS8502.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGTACATG	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF111,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000339260	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000343164	Transcript	.	.	ENSG00000010379	11046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(1)	.	S6A13_HUMAN	SLC6A13	HGNC	.	.	UPI0000046060	SNV	SLC6A13,missense_variant,p.Tyr314Phe,ENST00000445055,;SLC6A13,missense_variant,p.Tyr406Phe,ENST00000343164,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000539668,;SLC6A13,intron_variant,,ENST00000542379,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000543722,;SLC6A13,downstream_gene_variant,,ENST00000542947,;	1270	105	69	SUCCESS
LRRK2	120892	.	GRCh37	12	40761452	40761452	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	61	244	0	ENST00000298910.7:c.7469A>T	p.Gln2490Leu	p.Q2490L	ENST00000298910	NM_198578.3	2490	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS31774.1	7469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACAATCTT	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000298910	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.384)	.	deleterious(0)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Gln2490Leu,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	7527	244	214	SUCCESS
ARID2	196528	.	GRCh37	12	46205216	46205216	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs567746850	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	40	94	0	ENST00000334344.6:c.300C>G	p.Tyr100Ter	p.Y100*	ENST00000334344	NM_152641.2	100	taC/taG	0	.	T:0	.	T:0	.	G	Y/*	protein_coding	YES	CCDS31783.1	300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTACGAGAA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51011,hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Pfam_domain:PF01388,Gene3D:1.10.150.60,SMART_domains:SM01014,SMART_domains:SM00501,Superfamily_domains:SSF46774	T:0	.	ENSP00000335044	T:0	4/21	.	.	.	.	.	.	.	.	rs567746850	4/21	PASS	ENST00000334344	Transcript	.	T:0.0004	ENSG00000189079	18037	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,stop_gained,p.Tyr100Ter,ENST00000334344,;ARID2,5_prime_UTR_variant,,ENST00000422737,;	472	94	74	SUCCESS
C12orf4	57102	.	GRCh37	12	4645227	4645227	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	47	212	0	ENST00000261250.3:c.134G>T	p.Gly45Val	p.G45V	ENST00000261250	NM_020374.2	45	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS8528.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTCCATGC	NONE	.	.	Pfam_domain:PF10154,hmmpanther:PTHR16525,hmmpanther:PTHR16525:SF0	.	.	ENSP00000261250	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000261250	Transcript	.	.	ENSG00000047621	1184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	tolerated(0.18)	.	CL004_HUMAN	C12orf4	HGNC	F5H744_HUMAN,F5GXX6_HUMAN	.	UPI0000038C60	SNV	C12orf4,missense_variant,p.Gly45Val,ENST00000261250,;C12orf4,missense_variant,p.Gly45Val,ENST00000545746,;C12orf4,5_prime_UTR_variant,,ENST00000542080,;C12orf4,intron_variant,,ENST00000541014,;RAD51AP1,upstream_gene_variant,,ENST00000321524,;RAD51AP1,upstream_gene_variant,,ENST00000543041,;RAD51AP1,upstream_gene_variant,,ENST00000544927,;RAD51AP1,upstream_gene_variant,,ENST00000228843,;RAD51AP1,upstream_gene_variant,,ENST00000352618,;C12orf4,non_coding_transcript_exon_variant,,ENST00000535030,;C12orf4,intron_variant,,ENST00000544697,;RAD51AP1,upstream_gene_variant,,ENST00000535558,;RAD51AP1,upstream_gene_variant,,ENST00000544110,;RAD51AP1,upstream_gene_variant,,ENST00000536886,;RAD51AP1,upstream_gene_variant,,ENST00000536346,;RAD51AP1,upstream_gene_variant,,ENST00000398012,;RAD51AP1,upstream_gene_variant,,ENST00000538817,;RAD51AP1,upstream_gene_variant,,ENST00000442992,;	222	212	180	SUCCESS
KANSL2	54934	.	GRCh37	12	49061475	49061475	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1362978715	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	82	0	ENST00000420613.2:c.973+1G>A		p.X325_splice	ENST00000420613	NM_017822.3	325		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44869.1	.	MUTECT|MUSE	.	AGATACGGGTA	NONE	.	.	.	.	.	ENSP00000415436	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420613	Transcript	.	.	ENSG00000139620	26024	.	.	HIGH	7/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KANL2_HUMAN	KANSL2	HGNC	F8VRX7_HUMAN,F8VP38_HUMAN	.	UPI00001FC0EA	SNV	KANSL2,splice_donor_variant,,ENST00000357861,;KANSL2,splice_donor_variant,,ENST00000420613,;KANSL2,splice_donor_variant,,ENST00000553086,;KANSL2,splice_donor_variant,,ENST00000550347,;KANSL2,splice_donor_variant,,ENST00000547087,;KANSL2,downstream_gene_variant,,ENST00000550931,;SNORA2B,upstream_gene_variant,,ENST00000384583,;KANSL2,splice_donor_variant,,ENST00000546701,;KANSL2,splice_donor_variant,,ENST00000549574,;KANSL2,splice_donor_variant,,ENST00000548147,;KANSL2,downstream_gene_variant,,ENST00000547536,;KANSL2,downstream_gene_variant,,ENST00000547582,;	.	82	77	SUCCESS
RACGAP1	29127	.	GRCh37	12	50388025	50388025	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	94	0	ENST00000312377.5:c.1228A>T	p.Ser410Cys	p.S410C	ENST00000312377		410	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS8795.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTGAGGA	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23174:SF7,hmmpanther:PTHR23174,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000413241	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000434422	Transcript	.	.	ENSG00000161800	9804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	RGAP1_HUMAN	RACGAP1	HGNC	F8W0L1_HUMAN,F8VZ66_HUMAN,F8VYH6_HUMAN,F8VWY4_HUMAN,F8VWX0_HUMAN,F8VV47_HUMAN,F8VV39_HUMAN,F8VV37_HUMAN,F8VUW9_HUMAN,F8VS54_HUMAN,F8VRL2_HUMAN,F8VRD2_HUMAN,F8VQZ5_HUMAN	.	UPI0000037CA0	SNV	RACGAP1,missense_variant,p.Ser410Cys,ENST00000312377,;RACGAP1,missense_variant,p.Ser146Cys,ENST00000549342,;RACGAP1,missense_variant,p.Ser410Cys,ENST00000454520,;RACGAP1,missense_variant,p.Ser410Cys,ENST00000547905,;RACGAP1,missense_variant,p.Ser410Cys,ENST00000434422,;RACGAP1,missense_variant,p.Ser410Cys,ENST00000427314,;RACGAP1,missense_variant,p.Ser410Cys,ENST00000551016,;RACGAP1,upstream_gene_variant,,ENST00000548961,;RACGAP1,downstream_gene_variant,,ENST00000552310,;RACGAP1,downstream_gene_variant,,ENST00000548320,;RACGAP1,downstream_gene_variant,,ENST00000547061,;RACGAP1,downstream_gene_variant,,ENST00000548598,;	1530	94	78	SUCCESS
ESPL1	9700	.	GRCh37	12	53684151	53684151	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	53	0	ENST00000257934.4:c.5262G>T	p.Leu1754=	p.L1754=	ENST00000257934	NM_012291.4	1754	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8852.1	5262	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCCTGAATGA	NONE	.	.	Pfam_domain:PF03568,hmmpanther:PTHR12792	.	.	ENSP00000257934	.	24/31	.	.	.	.	.	.	.	.	.	24/31	PASS	ENST00000257934	Transcript	.	.	ENSG00000135476	16856	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESPL1_HUMAN	ESPL1	HGNC	H3BRX7_HUMAN	.	UPI00003668C3	SNV	ESPL1,synonymous_variant,p.%3D,ENST00000552462,;ESPL1,synonymous_variant,p.%3D,ENST00000257934,;PFDN5,upstream_gene_variant,,ENST00000551018,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;ESPL1,downstream_gene_variant,,ENST00000553016,;ESPL1,downstream_gene_variant,,ENST00000552600,;ESPL1,downstream_gene_variant,,ENST00000535123,;	5353	53	34	SUCCESS
TESPA1	9840	.	GRCh37	12	55357002	55357002	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	52	0	ENST00000316577.8:c.680T>C	p.Leu227Pro	p.L227P	ENST00000316577	NM_001098815.2	227	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS44913.1	680	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAGTGTT	NONE	.	.	hmmpanther:PTHR17469:SF1,hmmpanther:PTHR17469,Pfam_domain:PF14722	.	.	ENSP00000400892	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000449076	Transcript	.	.	ENSG00000135426	29109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	TESP1_HUMAN	TESPA1	HGNC	E9PN46_HUMAN,E9PM24_HUMAN,E9PIT9_HUMAN,E9PIN8_HUMAN,E9PHY9_HUMAN,B4DHC1_HUMAN	.	UPI00001FC438	SNV	TESPA1,missense_variant,p.Leu227Pro,ENST00000316577,;TESPA1,missense_variant,p.Leu89Pro,ENST00000531122,;TESPA1,missense_variant,p.Leu227Pro,ENST00000449076,;TESPA1,missense_variant,p.Leu89Pro,ENST00000532804,;TESPA1,missense_variant,p.Leu89Pro,ENST00000524622,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,upstream_gene_variant,,ENST00000528240,;TESPA1,downstream_gene_variant,,ENST00000524668,;TESPA1,non_coding_transcript_exon_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;	813	52	50	SUCCESS
TESPA1	9840	.	GRCh37	12	55367329	55367329	+	intron_variant	Intron	SNP	T	T	A	rs371233188	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	93	0	ENST00000316577.8:c.164-26A>T		p.*55*	ENST00000316577	NM_001098815.2			0	C:0.0003	.	.	.	.	A	.	protein_coding	YES	CCDS44913.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTGTGAG	NONE	byCluster	.	.	.	C:0	ENSP00000400892	.	.	.	.	.	.	.	.	.	.	rs371233188	.	PASS	ENST00000449076	Transcript	.	.	ENSG00000135426	29109	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TESP1_HUMAN	TESPA1	HGNC	E9PN46_HUMAN,E9PM24_HUMAN,E9PIT9_HUMAN,E9PIN8_HUMAN,E9PHY9_HUMAN,B4DHC1_HUMAN	.	UPI00001FC438	SNV	TESPA1,5_prime_UTR_variant,,ENST00000526532,;TESPA1,5_prime_UTR_variant,,ENST00000532757,;TESPA1,5_prime_UTR_variant,,ENST00000532804,;TESPA1,5_prime_UTR_variant,,ENST00000524622,;TESPA1,intron_variant,,ENST00000316577,;TESPA1,intron_variant,,ENST00000533446,;TESPA1,intron_variant,,ENST00000531122,;TESPA1,intron_variant,,ENST00000449076,;TESPA1,intron_variant,,ENST00000524668,;TESPA1,downstream_gene_variant,,ENST00000533607,;TESPA1,non_coding_transcript_exon_variant,,ENST00000524959,;TESPA1,5_prime_UTR_variant,,ENST00000524923,;TESPA1,intron_variant,,ENST00000525978,;	.	93	71	SUCCESS
OR6C68	403284	.	GRCh37	12	55886887	55886887	+	synonymous_variant	Silent	SNP	T	T	C	rs776110341	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	83	0	ENST00000548615.1:c.726T>C	p.His242=	p.H242=	ENST00000548615	NM_001005519.2	242	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS31826.2	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACATATTAC	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF19,hmmpanther:PTHR26454,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000448811	.	1/1	.	.	.	.	.	.	.	.	rs776110341	1/1	PASS	ENST00000548615	Transcript	.	.	ENSG00000205327	31297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O6C68_HUMAN	OR6C68	HGNC	.	.	UPI00015E1642	SNV	OR6C68,synonymous_variant,p.%3D,ENST00000548615,;OR6C68,synonymous_variant,p.%3D,ENST00000379662,;RP11-110A12.2,non_coding_transcript_exon_variant,,ENST00000556750,;RP11-110A12.2,non_coding_transcript_exon_variant,,ENST00000554049,;RP11-110A12.2,non_coding_transcript_exon_variant,,ENST00000555138,;	726	83	59	SUCCESS
ESYT1	23344	.	GRCh37	12	56530999	56530999	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	rs758440501	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	68	0	ENST00000394048.5:c.1783-3T>G		p.X595_splice	ENST00000394048	NM_001184796.1	595		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53801.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTAGATC	NONE	.	.	.	.	.	ENSP00000445952	.	.	.	.	.	.	.	.	.	.	rs758440501	.	PASS	ENST00000541590	Transcript	.	.	ENSG00000139641	29534	.	.	LOW	16/31	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESYT1_HUMAN	ESYT1	HGNC	F8VZB1_HUMAN	.	UPI0000D720B2	SNV	ESYT1,splice_region_variant,,ENST00000267113,;ESYT1,splice_region_variant,,ENST00000394048,;ESYT1,splice_region_variant,,ENST00000541590,;ESYT1,upstream_gene_variant,,ENST00000550878,;ESYT1,upstream_gene_variant,,ENST00000551112,;ESYT1,downstream_gene_variant,,ENST00000550179,;ESYT1,upstream_gene_variant,,ENST00000547667,;ESYT1,upstream_gene_variant,,ENST00000548142,;	.	68	54	SUCCESS
WIF1	11197	.	GRCh37	12	65514841	65514841	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	27	138	0	ENST00000286574.4:c.131A>T	p.Gln44Leu	p.Q44L	ENST00000286574	NM_007191.4	44	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8971.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTGGTGA	NONE	.	.	PROSITE_profiles:PS50814,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,Pfam_domain:PF02019,SMART_domains:SM00469,Prints_domain:PR01901	.	.	ENSP00000286574	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000286574	Transcript	.	.	ENSG00000156076	18081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	WIF1_HUMAN	WIF1	HGNC	F5H8A3_HUMAN,B4DX53_HUMAN	.	UPI0000038BEE	SNV	WIF1,missense_variant,p.Gln44Leu,ENST00000286574,;WIF1,upstream_gene_variant,,ENST00000546001,;	506	138	118	SUCCESS
MDM1	56890	.	GRCh37	12	68715351	68715352	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1468966270	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	21	103	0	ENST00000303145.7:c.858dup	p.His287ThrfsTer4	p.H287Tfs*4	ENST00000303145	NM_017440.4	286	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS8983.1	858-859	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGTGTAAGT	NONE	.	.	Pfam_domain:PF15501,hmmpanther:PTHR32078	.	.	ENSP00000302537	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000303145	Transcript	.	.	ENSG00000111554	29917	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDM1_HUMAN	MDM1	HGNC	F5H804_HUMAN	.	UPI00001FC70C	insertion	MDM1,frameshift_variant,p.His242ThrfsTer4,ENST00000411698,;MDM1,frameshift_variant,p.His7ThrfsTer4,ENST00000540418,;MDM1,frameshift_variant,p.His287ThrfsTer4,ENST00000303145,;MDM1,downstream_gene_variant,,ENST00000541686,;MDM1,downstream_gene_variant,,ENST00000393543,;MDM1,downstream_gene_variant,,ENST00000430606,;MDM1,non_coding_transcript_exon_variant,,ENST00000540476,;MDM1,downstream_gene_variant,,ENST00000545724,;MDM1,non_coding_transcript_exon_variant,,ENST00000536997,;MDM1,non_coding_transcript_exon_variant,,ENST00000538454,;	945-946	103	110	SUCCESS
PTPRB	5787	.	GRCh37	12	70983958	70983958	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	103	0	ENST00000261266.5:c.1182T>A	p.Leu394=	p.L394=	ENST00000261266	NM_002837.4	394	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44943.1	1836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACAAGAGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;	1881	103	101	SUCCESS
OTOGL	283310	.	GRCh37	12	80655748	80655748	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	rs777911261	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	62	0	ENST00000547103.1:c.1863-1G>C		p.X621_splice	ENST00000547103		621		0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGTTCTC	NONE	byFrequency	.	.	.	.	ENSP00000400895	.	.	.	.	.	.	.	.	.	.	rs777911261	.	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	HIGH	17/57	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,splice_acceptor_variant,,ENST00000458043,;OTOGL,splice_acceptor_variant,,ENST00000547103,;	.	62	69	SUCCESS
MYO16	23026	.	GRCh37	13	109535531	109535531	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	49	0	ENST00000356711.2:c.1484T>A	p.Leu495His	p.L495H	ENST00000356711	NM_015011.1	495	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS32008.1	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTCAGGT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000349145	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,missense_variant,p.Leu495His,ENST00000251041,;MYO16,missense_variant,p.Leu495His,ENST00000356711,;MYO16,missense_variant,p.Leu495His,ENST00000357550,;MYO16,upstream_gene_variant,,ENST00000457511,;MYO16,non_coding_transcript_exon_variant,,ENST00000482793,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	1610	49	35	SUCCESS
TUBA3C	7278	.	GRCh37	13	19752513	19752513	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	125	0	ENST00000400113.3:c.248A>C	p.Tyr83Ser	p.Y83S	ENST00000400113	NM_006001.2	83	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS9284.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTATAGGTT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	.	.	ENSP00000382982	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000400113	Transcript	.	.	ENSG00000198033	12408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.581)	.	deleterious_low_confidence(0.01)	.	TBA3C_HUMAN	TUBA3C	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3C,missense_variant,p.Tyr83Ser,ENST00000400113,;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;	353	125	65	SUCCESS
SKA3	221150	.	GRCh37	13	21734117	21734117	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	95	0	ENST00000314759.5:c.839A>T	p.Tyr280Phe	p.Y280F	ENST00000314759	NM_145061.5	280	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS31946.1	839	RADIA|MUTECT|MUSE	.	TGGTATATTCG	NONE	.	.	.	.	.	ENSP00000319417	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000314759	Transcript	.	.	ENSG00000165480	20262	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.5)	.	SKA3_HUMAN	SKA3	HGNC	.	.	UPI00001AEC75	SNV	SKA3,missense_variant,p.Tyr280Phe,ENST00000314759,;SKA3,missense_variant,p.Tyr280Phe,ENST00000400018,;SKA3,3_prime_UTR_variant,,ENST00000298260,;SKA3,intron_variant,,ENST00000462482,;SKA3,downstream_gene_variant,,ENST00000465471,;	964	95	41	SUCCESS
ATP12A	479	.	GRCh37	13	25283840	25283840	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	93	0	ENST00000381946.3:c.2637A>T	p.Gly879=	p.G879=	ENST00000381946		879	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS53858.1	2655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAGCTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Superfamily_domains:0049473,Prints_domain:PR00121	.	.	ENSP00000218548	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,synonymous_variant,p.%3D,ENST00000218548,;ATP12A,synonymous_variant,p.%3D,ENST00000381946,;RPL26P34,upstream_gene_variant,,ENST00000431005,;	2988	93	48	SUCCESS
GPR12	2835	.	GRCh37	13	27333221	27333221	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	86	0	ENST00000381436.2:c.744A>T	p.Lys248Asn	p.K248N	ENST00000381436		248	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9319.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTTTCCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF8,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00644	.	.	ENSP00000384932	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000405846	Transcript	.	.	ENSG00000132975	4466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.12)	.	GPR12_HUMAN	GPR12	HGNC	B4DG25_HUMAN,A8K2F5_HUMAN	.	UPI000003EC24	SNV	GPR12,missense_variant,p.Lys248Asn,ENST00000405846,;GPR12,missense_variant,p.Lys248Asn,ENST00000381436,;	966	86	69	SUCCESS
CDX2	1045	.	GRCh37	13	28542904	28542904	+	synonymous_variant	Silent	SNP	G	G	A	rs754463501	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	20	52	0	ENST00000381020.7:c.240C>T	p.Tyr80=	p.Y80=	ENST00000381020	NM_001265.4	80	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS9328.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGTAGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24332:SF12,hmmpanther:PTHR24332,Pfam_domain:PF04731	.	.	ENSP00000370408	.	1/3	.	.	.	.	.	.	.	.	rs754463501	1/3	PASS	ENST00000381020	Transcript	.	.	ENSG00000165556	1806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDX2_HUMAN	CDX2	HGNC	.	.	UPI000013E4C8	SNV	CDX2,synonymous_variant,p.%3D,ENST00000381020,;CDX2,upstream_gene_variant,,ENST00000548877,;	2373	52	40	SUCCESS
PDS5B	23047	.	GRCh37	13	33320210	33320210	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	71	0	ENST00000315596.10:c.2708A>T	p.Gln903Leu	p.Q903L	ENST00000315596	NM_015032.3	903	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41878.1	2708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACAATATC	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1	.	.	ENSP00000313851	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000315596	Transcript	.	.	ENSG00000083642	20418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	deleterious(0)	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,missense_variant,p.Gln903Leu,ENST00000315596,;PDS5B,missense_variant,p.Gln903Leu,ENST00000450460,;	2894	71	42	SUCCESS
FAM216B	144809	.	GRCh37	13	43360937	43360937	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	97	0	ENST00000313851.1:c.138T>A	p.Ile46=	p.I46=	ENST00000313851		46	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9386.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATTATGAG	NONE	.	.	hmmpanther:PTHR16476,Pfam_domain:PF15107	.	.	ENSP00000445786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000537894	Transcript	.	.	ENSG00000179813	26883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F216B_HUMAN	FAM216B	HGNC	.	.	UPI0000070E45	SNV	FAM216B,synonymous_variant,p.%3D,ENST00000313851,;FAM216B,synonymous_variant,p.%3D,ENST00000537894,;	261	97	47	SUCCESS
TSC22D1	8848	.	GRCh37	13	45148297	45148297	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	48	0	ENST00000458659.2:c.1914A>T	p.Thr638=	p.T638=	ENST00000458659	NM_183422.3	638	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31966.1	1914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGTGTAGA	NONE	.	.	hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17	.	.	ENSP00000397435	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000458659	Transcript	.	.	ENSG00000102804	16826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T22D1_HUMAN	TSC22D1	HGNC	C9IZ15_HUMAN	.	UPI0000D61A6B	SNV	TSC22D1,synonymous_variant,p.%3D,ENST00000458659,;TSC22D1,intron_variant,,ENST00000501704,;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,;	2405	48	40	SUCCESS
DACH1	1602	.	GRCh37	13	72440907	72440907	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	21	161	0	ENST00000305425.4:c.1A>T	p.Met1?	p.M1?	ENST00000305425	NM_080759.4	1	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS41899.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATGGTCA	NONE	.	.	.	.	.	ENSP00000304994	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,start_lost,p.Met1?,ENST00000305425,;DACH1,start_lost,p.Met1?,ENST00000313174,;DACH1,start_lost,p.Met1?,ENST00000354591,;DACH1,start_lost,p.Met1?,ENST00000359684,;	424	161	118	SUCCESS
MYCBP2	23077	.	GRCh37	13	77755971	77755971	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	49	82	0	ENST00000357337.6:c.4692G>T	p.Leu1564=	p.L1564=	ENST00000357337		1564	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	.	4692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCAGCTT	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	33/83	.	.	.	.	.	.	.	.	.	33/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,synonymous_variant,p.%3D,ENST00000357337,;MYCBP2,synonymous_variant,p.%3D,ENST00000544440,;MYCBP2,synonymous_variant,p.%3D,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;	4710	82	69	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102496272	102496272	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	126	1	ENST00000360184.4:c.9759G>T	p.Lys3253Asn	p.K3253N	ENST00000360184	NM_001376.4	3253	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS9966.1	9759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGAAGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000348965	.	50/78	.	.	.	.	.	.	.	.	.	50/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Lys3253Asn,ENST00000360184,;DYNC1H1,upstream_gene_variant,,ENST00000553423,;DYNC1H1,downstream_gene_variant,,ENST00000555204,;DYNC1H1,upstream_gene_variant,,ENST00000556791,;DYNC1H1,downstream_gene_variant,,ENST00000554854,;	9923	127	112	SUCCESS
CDC42BPB	9578	.	GRCh37	14	103442078	103442078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	39	85	0	ENST00000361246.2:c.1450G>A	p.Asp484Asn	p.D484N	ENST00000361246	NM_006035.3	484	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9978.1	1450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCTCGGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30	.	.	ENSP00000355237	.	11/37	.	.	.	.	.	.	.	.	.	11/37	PASS	ENST00000361246	Transcript	.	.	ENSG00000198752	1738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.18)	.	MRCKB_HUMAN	CDC42BPB	HGNC	.	.	UPI000013D27E	SNV	CDC42BPB,missense_variant,p.Asp484Asn,ENST00000361246,;	1739	85	55	SUCCESS
TDRD9	122402	.	GRCh37	14	104433111	104433111	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	63	0	ENST00000409874.4:c.708T>A	p.Leu236=	p.L236=	ENST00000409874	NM_153046.2	236	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9987.2	708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTTCAGAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80,PROSITE_profiles:PS51192	.	.	ENSP00000387303	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000409874	Transcript	.	.	ENSG00000156414	20122	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD9_HUMAN	TDRD9	HGNC	.	.	UPI0001642306	SNV	TDRD9,synonymous_variant,p.%3D,ENST00000339063,;TDRD9,synonymous_variant,p.%3D,ENST00000409874,;TDRD9,upstream_gene_variant,,ENST00000557332,;TDRD9,non_coding_transcript_exon_variant,,ENST00000554571,;TDRD9,downstream_gene_variant,,ENST00000496087,;	756	63	75	SUCCESS
AHNAK2	113146	.	GRCh37	14	105419689	105419689	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	37	172	0	ENST00000333244.5:c.2099T>A	p.Val700Glu	p.V700E	ENST00000333244	NM_138420.2	700	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS45177.1	2099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACACATCC	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Val700Glu,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	2219	172	121	SUCCESS
IGHV1-58	28464	.	GRCh37	14	107078508	107078508	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	119	0	ENST00000390628.2:c.216T>A	p.Val72=	p.V72=	ENST00000390628		72	gtT/gtA	0	.	.	.	.	.	T	V	IG_V_gene	YES	.	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAACGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375037	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390628	Transcript	.	.	ENSG00000211968	5555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHV1-58	HGNC	.	.	UPI000011AAC6	SNV	IGHV1-58,synonymous_variant,p.%3D,ENST00000390628,;IGHV4-59,downstream_gene_variant,,ENST00000390629,;IGHV4-59,downstream_gene_variant,,ENST00000455737,;IGHV3-57,upstream_gene_variant,,ENST00000520143,;	277	119	104	SUCCESS
OR11H12	440153	.	GRCh37	14	19378061	19378061	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	411	22	462	0	ENST00000550708.1:c.468T>A	p.Cys156Ter	p.C156*	ENST00000550708	NM_001013354.1	156	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS32017.1	468	MUTECT|MUSE	.	CTCTGTGCCAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000449002	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000550708	Transcript	.	.	ENSG00000257115	30738	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O11HC_HUMAN	OR11H12	HGNC	.	.	UPI00004EAFF2	SNV	OR11H12,stop_gained,p.Cys156Ter,ENST00000550708,;	540	462	434	SUCCESS
RP11-903H12.3	0	.	GRCh37	14	21168534	21168534	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	rs369799210	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	61	247	0	ENST00000554286.1:n.375-877T>C		p.*125*	ENST00000554286				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9555.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTATGCCA	NONE	.	.	.	.	.	ENSP00000452245	.	2/2	.	.	.	.	.	.	.	.	rs369799210	2/2	PASS	ENST00000555835	Transcript	.	.	ENSG00000258818	10047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNAS4_HUMAN	RNASE4	HGNC	Q53XB4_HUMAN	.	UPI000000CBC2	SNV	RNASE4,3_prime_UTR_variant,,ENST00000304704,;AL163636.6,3_prime_UTR_variant,,ENST00000553909,;RNASE4,3_prime_UTR_variant,,ENST00000555597,;RNASE4,3_prime_UTR_variant,,ENST00000555835,;RNASE4,downstream_gene_variant,,ENST00000397995,;RP11-903H12.3,intron_variant,,ENST00000554286,;ANG,downstream_gene_variant,,ENST00000554073,;	1680	247	224	SUCCESS
OR5AU1	390445	.	GRCh37	14	21624103	21624103	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	105	0	ENST00000304418.3:c.82A>T	p.Ser28Cys	p.S28C	ENST00000304418	NM_001004731.1	28	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS32042.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTGGGTT	NONE	.	.	.	.	.	ENSP00000302057	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304418	Transcript	.	.	ENSG00000169327	15362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.07)	.	O5AU1_HUMAN	OR5AU1	HGNC	.	.	UPI000015F240	SNV	OR5AU1,missense_variant,p.Ser28Cys,ENST00000304418,;	120	105	105	SUCCESS
MMP14	4323	.	GRCh37	14	23315040	23315040	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202185020	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	47	129	0	ENST00000311852.6:c.1541C>T	p.Pro514Leu	p.P514L	ENST00000311852	NM_004995.3	514	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS9577.1	1541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCGGATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,Pfam_domain:PF11857	.	.	ENSP00000308208	.	10/10	.	.	.	.	.	.	.	.	rs202185020	10/10	PASS	ENST00000311852	Transcript	.	.	ENSG00000157227	7160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	deleterious(0.02)	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,missense_variant,p.Pro514Leu,ENST00000311852,;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,intron_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	1802	129	90	SUCCESS
SLC22A17	51310	.	GRCh37	14	23821009	23821009	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	73	278	0	ENST00000206544.8:c.323T>A	p.Ile108Asn	p.I108N	ENST00000206544	NM_020372.2	108	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS9593.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGATGAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000380437	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000397267	Transcript	.	.	ENSG00000092096	23095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.69)	.	deleterious(0)	.	S22AH_HUMAN	SLC22A17	HGNC	.	.	UPI0000126A49	SNV	SLC22A17,missense_variant,p.Ile108Asn,ENST00000354772,;SLC22A17,missense_variant,p.Ile108Asn,ENST00000206544,;SLC22A17,missense_variant,p.Ile108Asn,ENST00000397267,;SLC22A17,intron_variant,,ENST00000397260,;EFS,downstream_gene_variant,,ENST00000351354,;EFS,downstream_gene_variant,,ENST00000216733,;RP11-124D2.3,upstream_gene_variant,,ENST00000554010,;SLC22A17,intron_variant,,ENST00000474057,;SLC22A17,upstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000556803,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000557699,;SLC22A17,upstream_gene_variant,,ENST00000473917,;	786	278	242	SUCCESS
RNF31	55072	.	GRCh37	14	24620416	24620416	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	27	0	ENST00000324103.6:c.1565A>T	p.Gln522Leu	p.Q522L	ENST00000324103	NM_017999.4	522	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41931.1	1565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGTGGT	NONE	.	.	hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1	.	.	ENSP00000315112	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000324103	Transcript	.	.	ENSG00000092098	16031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.24)	.	RNF31_HUMAN	RNF31	HGNC	H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN	.	UPI0000072F93	SNV	RNF31,missense_variant,p.Gln522Leu,ENST00000324103,;RNF31,missense_variant,p.Gln371Leu,ENST00000382687,;RNF31,missense_variant,p.Gln371Leu,ENST00000559275,;RNF31,intron_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000557991,;RNF31,downstream_gene_variant,,ENST00000559533,;PSME2,upstream_gene_variant,,ENST00000216802,;PSME2,upstream_gene_variant,,ENST00000559056,;RNF31,downstream_gene_variant,,ENST00000560071,;RNF31,downstream_gene_variant,,ENST00000560875,;RNF31,upstream_gene_variant,,ENST00000560754,;RNF31,downstream_gene_variant,,ENST00000559308,;PSME2,upstream_gene_variant,,ENST00000560410,;RNF31,downstream_gene_variant,,ENST00000559260,;PSME2,upstream_gene_variant,,ENST00000471700,;PSME2,upstream_gene_variant,,ENST00000559613,;RNF31,downstream_gene_variant,,ENST00000558634,;RNF31,downstream_gene_variant,,ENST00000559438,;PSME2,upstream_gene_variant,,ENST00000561103,;RNF31,downstream_gene_variant,,ENST00000559882,;RNF31,downstream_gene_variant,,ENST00000559583,;RNF31,downstream_gene_variant,,ENST00000557878,;RNF31,non_coding_transcript_exon_variant,,ENST00000559071,;RNF31,intron_variant,,ENST00000491351,;PSME2,upstream_gene_variant,,ENST00000560370,;PSME2,upstream_gene_variant,,ENST00000560788,;RNF31,downstream_gene_variant,,ENST00000558907,;PSME2,upstream_gene_variant,,ENST00000558273,;RP11-468E2.4,upstream_gene_variant,,ENST00000558468,;RNF31,upstream_gene_variant,,ENST00000559449,;RNF31,upstream_gene_variant,,ENST00000558452,;PSME2,upstream_gene_variant,,ENST00000559453,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000558931,;RNF31,downstream_gene_variant,,ENST00000560342,;PSME2,upstream_gene_variant,,ENST00000560592,;	1885	27	27	SUCCESS
NYNRIN	57523	.	GRCh37	14	24884806	24884806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	70	0	ENST00000382554.3:c.3851T>A	p.Leu1284Gln	p.L1284Q	ENST00000382554	NM_025081.2	1284	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS45090.1	3851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCTGCTCA	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000371994	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious_low_confidence(0.01)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Leu1284Gln,ENST00000382554,;NYNRIN,downstream_gene_variant,,ENST00000554505,;	4169	70	49	SUCCESS
DHRS7	51635	.	GRCh37	14	60635587	60635587	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	32	0	ENST00000216500.5:c.-297+828C>A		p.*99*	ENST00000216500				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9743.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGACATA	NONE	.	.	.	.	.	ENSP00000216500	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216500	Transcript	.	.	ENSG00000100612	21524	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHRS7_HUMAN	DHRS7	HGNC	G3V5J0_HUMAN	.	UPI000004C78C	SNV	PCNXL4,3_prime_UTR_variant,,ENST00000406949,;DHRS7,intron_variant,,ENST00000536410,;DHRS7,intron_variant,,ENST00000216500,;DHRS7,upstream_gene_variant,,ENST00000557137,;DHRS7,upstream_gene_variant,,ENST00000557185,;DHRS7,upstream_gene_variant,,ENST00000557326,;DHRS7,upstream_gene_variant,,ENST00000554101,;PCNXL4,non_coding_transcript_exon_variant,,ENST00000553898,;DHRS7,intron_variant,,ENST00000553328,;DHRS7,upstream_gene_variant,,ENST00000555171,;DHRS7,upstream_gene_variant,,ENST00000556502,;	.	32	33	SUCCESS
SIX4	51804	.	GRCh37	14	61186827	61186827	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	122	0	ENST00000216513.4:c.1200T>A	p.Ile400=	p.I400=	ENST00000216513	NM_017420.4	400	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9749.2	1200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAATGTT	NONE	.	.	hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22	.	.	ENSP00000216513	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,synonymous_variant,p.%3D,ENST00000556952,;SIX4,synonymous_variant,p.%3D,ENST00000216513,;SIX4,3_prime_UTR_variant,,ENST00000554079,;	1260	122	107	SUCCESS
HIF1A	3091	.	GRCh37	14	62200973	62200973	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs367767967	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	121	0	ENST00000337138.4:c.998A>T	p.Gln333Leu	p.Q333L	ENST00000337138	NM_001530.3	333	cAg/cTg	0	G:0	.	.	.	.	T	Q/L	protein_coding	YES	CCDS58324.1	1070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAGTGCA	NONE	.	.	Superfamily_domains:SSF55785,SMART_domains:SM00086,Gene3D:3.30.450.20,Pfam_domain:PF14598,hmmpanther:PTHR23043:SF7,hmmpanther:PTHR23043	.	G:0.0001	ENSP00000437955	.	8/15	.	.	.	.	.	.	.	.	rs367767967	8/15	PASS	ENST00000539097	Transcript	.	.	ENSG00000100644	4910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.639)	.	deleterious(0)	.	HIF1A_HUMAN	HIF1A	HGNC	F8W9L0_HUMAN,B4E2U7_HUMAN	.	UPI0001982748	SNV	HIF1A,missense_variant,p.Gln357Leu,ENST00000539097,;HIF1A,missense_variant,p.Gln333Leu,ENST00000337138,;HIF1A,missense_variant,p.Gln333Leu,ENST00000323441,;HIF1A,missense_variant,p.Gln274Leu,ENST00000557538,;HIF1A,missense_variant,p.Gln334Leu,ENST00000394997,;HIF1A-AS2,intron_variant,,ENST00000554254,;RP11-618G20.1,non_coding_transcript_exon_variant,,ENST00000555937,;HIF1A,upstream_gene_variant,,ENST00000555014,;	1299	121	101	SUCCESS
SYNE2	23224	.	GRCh37	14	64408641	64408641	+	synonymous_variant	Silent	SNP	C	C	T	rs575263745	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	73	0	ENST00000344113.4:c.276C>T	p.Ile92=	p.I92=	ENST00000344113	NM_015180.4	92	atC/atT	0	.	T:0	.	T:0	.	T	I	protein_coding	YES	CCDS9761.2	276	RADIA|MUTECT|MUSE	.	AGAATCAATAT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	T:0	.	ENSP00000350719	T:0	5/116	.	.	.	.	.	.	.	.	rs575263745	5/116	PASS	ENST00000358025	Transcript	.	T:0.0004	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.002	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000356081,;SYNE2,synonymous_variant,p.%3D,ENST00000341472,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;	506	73	41	SUCCESS
SYNE2	23224	.	GRCh37	14	64408680	64408680	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	62	0	ENST00000344113.4:c.315A>T		p.X105_splice	ENST00000344113	NM_015180.4	105	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9761.2	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCAGTAAG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000350719	.	5/116	.	.	.	.	.	.	.	.	.	5/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000356081,;SYNE2,synonymous_variant,p.%3D,ENST00000341472,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,splice_region_variant,,ENST00000357395,;	545	62	42	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68233158	68233158	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	177	0	ENST00000347230.4:c.5797A>T	p.Ser1933Cys	p.S1933C	ENST00000347230	NM_015346.3	1933	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS9788.1	5797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCTGGGGG	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115	.	.	ENSP00000251119	.	32/42	.	.	.	.	.	.	.	.	.	32/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Ser1933Cys,ENST00000555452,;ZFYVE26,missense_variant,p.Ser1933Cys,ENST00000347230,;ZFYVE26,upstream_gene_variant,,ENST00000557306,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000394455,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	5936	177	112	SUCCESS
PLEKHD1	400224	.	GRCh37	14	69967330	69967330	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	65	0	ENST00000322564.7:c.280A>T	p.Lys94Ter	p.K94*	ENST00000322564	NM_001161498.1	94	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS53903.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAAGGAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14383,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000317175	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000322564	Transcript	.	.	ENSG00000175985	20148	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLHD1_HUMAN	PLEKHD1	HGNC	.	.	UPI0000EE334F	SNV	PLEKHD1,stop_gained,p.Lys94Ter,ENST00000322564,;PLEKHD1,non_coding_transcript_exon_variant,,ENST00000556123,;	492	65	25	SUCCESS
POMT2	29954	.	GRCh37	14	77767555	77767555	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	143	0	ENST00000261534.4:c.694A>T	p.Thr232Ser	p.T232S	ENST00000261534	NM_013382.5	232	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9857.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTCAGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF31,Pfam_domain:PF02366	.	.	ENSP00000261534	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000261534	Transcript	.	.	ENSG00000009830	19743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	tolerated(0.09)	.	POMT2_HUMAN	POMT2	HGNC	G3V4X9_HUMAN	.	UPI0000070587	SNV	POMT2,missense_variant,p.Thr232Ser,ENST00000261534,;POMT2,downstream_gene_variant,,ENST00000554948,;POMT2,non_coding_transcript_exon_variant,,ENST00000553863,;POMT2,upstream_gene_variant,,ENST00000557675,;POMT2,downstream_gene_variant,,ENST00000556880,;POMT2,downstream_gene_variant,,ENST00000555788,;POMT2,3_prime_UTR_variant,,ENST00000556326,;POMT2,non_coding_transcript_exon_variant,,ENST00000452340,;POMT2,non_coding_transcript_exon_variant,,ENST00000555675,;POMT2,intron_variant,,ENST00000557289,;POMT2,downstream_gene_variant,,ENST00000557525,;POMT2,upstream_gene_variant,,ENST00000554767,;	897	143	84	SUCCESS
SMEK1	0	.	GRCh37	14	91942204	91942204	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	117	0	ENST00000554943.1:c.1217A>T	p.Gln406Leu	p.Q406L	ENST00000554943		406	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9895.1	1217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTGTTGT	NONE	.	.	hmmpanther:PTHR23318:SF3,hmmpanther:PTHR23318,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000450864	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	tolerated(0.08)	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,missense_variant,p.Gln406Leu,ENST00000554684,;SMEK1,missense_variant,p.Gln167Leu,ENST00000555462,;SMEK1,missense_variant,p.Gln167Leu,ENST00000428424,;SMEK1,missense_variant,p.Gln406Leu,ENST00000337238,;SMEK1,missense_variant,p.Gln186Leu,ENST00000555470,;SMEK1,missense_variant,p.Gln167Leu,ENST00000555029,;SMEK1,missense_variant,p.Gln406Leu,ENST00000554943,;SMEK1,missense_variant,p.Gln409Leu,ENST00000554308,;SMEK1,missense_variant,p.Gln406Leu,ENST00000554390,;SMEK1,non_coding_transcript_exon_variant,,ENST00000554574,;	1714	117	89	SUCCESS
CATSPERB	79820	.	GRCh37	14	92091187	92091187	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs747169373	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	128	0	ENST00000256343.3:c.1907A>T	p.Tyr636Phe	p.Y636F	ENST00000256343	NM_024764.2	636	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32142.1	1907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTATAGACA	NONE	byFrequency	.	hmmpanther:PTHR14705,Pfam_domain:PF15149	.	.	ENSP00000256343	.	18/27	.	.	.	.	.	.	.	.	rs747169373	18/27	PASS	ENST00000256343	Transcript	.	.	ENSG00000133962	20500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.33)	.	CTSRB_HUMAN	CATSPERB	HGNC	G3V584_HUMAN,G3V352_HUMAN	.	UPI0000418DA1	SNV	CATSPERB,missense_variant,p.Tyr636Phe,ENST00000256343,;CATSPERB,3_prime_UTR_variant,,ENST00000557036,;	2064	128	77	SUCCESS
RIN3	79890	.	GRCh37	14	93118727	93118727	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	52	252	0	ENST00000216487.7:c.1333A>T	p.Ser445Cys	p.S445C	ENST00000216487	NM_024832.3	445	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS32144.1	1333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAGCATG	NONE	.	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101	.	.	ENSP00000216487	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000216487	Transcript	.	.	ENSG00000100599	18751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0.03)	.	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,missense_variant,p.Ser445Cys,ENST00000216487,;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	1492	252	139	SUCCESS
BCL11B	64919	.	GRCh37	14	99642349	99642349	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1192807157	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	153	0	ENST00000357195.3:c.824C>T	p.Ala275Val	p.A275V	ENST00000357195	NM_138576.2	275	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9950.1	824	RADIA|MUTECT|MUSE	.	ACTGCGCCACG	BUFFER|p.P271P|c.813G>C|4	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.588)	.	tolerated(0.09)	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,missense_variant,p.Ala81Val,ENST00000443726,;BCL11B,missense_variant,p.Ala204Val,ENST00000345514,;BCL11B,missense_variant,p.Ala275Val,ENST00000357195,;	834	153	116	SUCCESS
GABRG3	2567	.	GRCh37	15	27222169	27222169	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	94	0	ENST00000333743.6:c.74A>G	p.Asp25Gly	p.D25G	ENST00000333743	NM_033223.4	25	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45195.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGATGAAT	NONE	.	.	hmmpanther:PTHR18945:SF195,hmmpanther:PTHR18945,Prints_domain:PR01620	.	.	ENSP00000331912	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.11)	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,missense_variant,p.Asp25Gly,ENST00000555083,;GABRG3,missense_variant,p.Asp25Gly,ENST00000333743,;GABRG3,non_coding_transcript_exon_variant,,ENST00000553440,;	328	94	70	SUCCESS
THBS1	7057	.	GRCh37	15	39885868	39885868	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	103	0	ENST00000260356.5:c.3266A>T	p.Gln1089Leu	p.Q1089L	ENST00000260356	NM_003246.2	1089	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS32194.1	3266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCAGGTAA	NONE	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,missense_variant,p.Gln1089Leu,ENST00000260356,;CTD-2033D15.1,non_coding_transcript_exon_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000484734,;THBS1,downstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000559746,;THBS1,downstream_gene_variant,,ENST00000490247,;	3431	103	55	SUCCESS
MYEF2	50804	.	GRCh37	15	48443350	48443350	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	78	314	1	ENST00000324324.7:c.1325G>A	p.Gly442Glu	p.G442E	ENST00000324324	NM_016132.3	442	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS32230.1	1325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACCCTCCA	NONE	.	.	hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003	.	.	ENSP00000316950	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000324324	Transcript	.	.	ENSG00000104177	17940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(0.59)	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,missense_variant,p.Gly442Glu,ENST00000324324,;MYEF2,intron_variant,,ENST00000558395,;MYEF2,intron_variant,,ENST00000267836,;MYEF2,upstream_gene_variant,,ENST00000560172,;MYEF2,intron_variant,,ENST00000560513,;MYEF2,intron_variant,,ENST00000560530,;MYEF2,downstream_gene_variant,,ENST00000561351,;MYEF2,upstream_gene_variant,,ENST00000559057,;MYEF2,upstream_gene_variant,,ENST00000558289,;MYEF2,downstream_gene_variant,,ENST00000561301,;	1605	315	221	SUCCESS
PRTG	283659	.	GRCh37	15	55967845	55967845	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	72	0	ENST00000389286.4:c.1418A>G	p.Asn473Ser	p.N473S	ENST00000389286	NM_173814.4	473	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS42040.1	1418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCATTTCCG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10489:SF20,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000373937	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,missense_variant,p.Asn473Ser,ENST00000389286,;PRTG,missense_variant,p.Asn8Ser,ENST00000561465,;RP11-420M1.2,upstream_gene_variant,,ENST00000561155,;PRTG,downstream_gene_variant,,ENST00000559842,;	1466	72	51	SUCCESS
NARG2	0	.	GRCh37	15	60720769	60720769	+	synonymous_variant	Silent	SNP	G	G	A	rs756413542	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	64	0	ENST00000261520.4:c.2679C>T	p.Cys893=	p.C893=	ENST00000261520	NM_024611.5	893	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS10176.1	2679	RADIA|MUTECT|MUSE	.	AGGCCGCAATG	NONE	.	.	hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633,Pfam_domain:PF10505	.	.	ENSP00000261520	.	15/16	.	.	.	.	.	.	.	.	rs756413542	15/16	PASS	ENST00000261520	Transcript	.	.	ENSG00000128915	29885	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NARG2_HUMAN	NARG2	HGNC	H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN	.	UPI00001A828C	SNV	NARG2,synonymous_variant,p.%3D,ENST00000261520,;NARG2,synonymous_variant,p.%3D,ENST00000439632,;NARG2,non_coding_transcript_exon_variant,,ENST00000561124,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,non_coding_transcript_exon_variant,,ENST00000558121,;	2914	64	46	SUCCESS
TMEM202	338949	.	GRCh37	15	72700152	72700152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	61	0	ENST00000341689.3:c.740C>A	p.Ala247Asp	p.A247D	ENST00000341689	NM_001080462.1	247	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS32287.1	740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCTAAAG	NONE	.	.	hmmpanther:PTHR10671:SF31,hmmpanther:PTHR10671	.	.	ENSP00000340212	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341689	Transcript	.	.	ENSG00000187806	33733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.29)	.	TM202_HUMAN	TMEM202	HGNC	.	.	UPI000049DDE8	SNV	TMEM202,missense_variant,p.Ala247Asp,ENST00000341689,;TMEM202,3_prime_UTR_variant,,ENST00000567679,;RP11-1007O24.3,non_coding_transcript_exon_variant,,ENST00000562573,;TMEM202,3_prime_UTR_variant,,ENST00000568167,;	794	61	40	SUCCESS
RASGRF1	5923	.	GRCh37	15	79291113	79291113	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	54	0	ENST00000419573.3:c.2849C>A	p.Ala950Asp	p.A950D	ENST00000419573	NM_002891.4	950	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS10309.1	2849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGCTGCT	NONE	.	.	hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000405963	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	deleterious(0.02)	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,missense_variant,p.Ala934Asp,ENST00000558480,;RASGRF1,missense_variant,p.Ala950Asp,ENST00000419573,;RASGRF1,missense_variant,p.Ala166Asp,ENST00000394745,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;RASGRF1,upstream_gene_variant,,ENST00000561112,;RASGRF1,upstream_gene_variant,,ENST00000560943,;	3124	54	38	SUCCESS
HDGFRP3	0	.	GRCh37	15	83826759	83826759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	77	0	ENST00000299633.4:c.196A>G	p.Lys66Glu	p.K66E	ENST00000299633	NM_016073.3	66	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32314.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTATATG	NONE	.	.	PROSITE_profiles:PS50812,hmmpanther:PTHR12550,Gene3D:2.30.30.160,Pfam_domain:PF00855,SMART_domains:SM00293,Superfamily_domains:SSF63748	.	.	ENSP00000299633	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000299633	Transcript	.	.	ENSG00000166503	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(1)	.	HDGR3_HUMAN	HDGFRP3	Uniprot_gn	.	.	UPI000006D757	SNV	HDGFRP3,missense_variant,p.Lys42Glu,ENST00000562702,;HDGFRP3,missense_variant,p.Lys66Glu,ENST00000299633,;HDGFRP3,upstream_gene_variant,,ENST00000568294,;HDGFRP3,3_prime_UTR_variant,,ENST00000563790,;	800	77	47	SUCCESS
ADAMTSL3	57188	.	GRCh37	15	84694127	84694127	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143304781	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	53	211	0	ENST00000286744.5:c.4595G>T	p.Arg1532Leu	p.R1532L	ENST00000286744	NM_207517.2	1532	cGg/cTg	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS10326.1	4595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGGCCTC	NONE	byCluster	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,hmmpanther:PTHR13723:SF169,hmmpanther:PTHR13723,PROSITE_profiles:PS50092	.	A:0	ENSP00000286744	.	27/30	.	.	.	.	.	.	.	.	rs143304781	27/30	PASS	ENST00000286744	Transcript	.	.	ENSG00000156218	14633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated(0.08)	.	ATL3_HUMAN	ADAMTSL3	HGNC	.	.	UPI00001615A5	SNV	ADAMTSL3,missense_variant,p.Arg1532Leu,ENST00000286744,;ADAMTSL3,missense_variant,p.Arg1532Leu,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	4819	211	142	SUCCESS
IQGAP1	8826	.	GRCh37	15	91038004	91038004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	64	249	1	ENST00000268182.5:c.4688A>G	p.Tyr1563Cys	p.Y1563C	ENST00000268182	NM_003870.3	1563	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10362.1	4688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATATACAG	NONE	.	.	Superfamily_domains:0050767,Pfam_domain:PF03836,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15	.	.	ENSP00000268182	.	36/38	.	.	.	.	.	.	.	.	.	36/38	PASS	ENST00000268182	Transcript	.	.	ENSG00000140575	6110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IQGA1_HUMAN	IQGAP1	HGNC	H0YKA5_HUMAN	.	UPI000012D863	SNV	IQGAP1,missense_variant,p.Tyr991Cys,ENST00000560738,;IQGAP1,missense_variant,p.Tyr1563Cys,ENST00000268182,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000558957,;IQGAP1,downstream_gene_variant,,ENST00000561132,;IQGAP1,upstream_gene_variant,,ENST00000561086,;IQGAP1,downstream_gene_variant,,ENST00000559674,;IQGAP1,downstream_gene_variant,,ENST00000559031,;IQGAP1,downstream_gene_variant,,ENST00000561461,;	4812	250	168	SUCCESS
CHD2	1106	.	GRCh37	15	93552536	93552536	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	88	0	ENST00000394196.4:c.4575C>T	p.His1525=	p.H1525=	ENST00000394196	NM_001271.3	1525	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS10374.2	4575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCACATCAA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Pfam_domain:PF13907	.	.	ENSP00000377747	.	35/39	.	.	.	.	.	.	.	.	.	35/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,synonymous_variant,p.%3D,ENST00000557381,;CHD2,synonymous_variant,p.%3D,ENST00000394196,;CHD2,synonymous_variant,p.%3D,ENST00000557759,;CHD2,downstream_gene_variant,,ENST00000582447,;	5643	88	59	SUCCESS
IGF1R	3480	.	GRCh37	15	99251163	99251163	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	156	0	ENST00000268035.6:c.467A>T	p.Asp156Val	p.D156V	ENST00000268035	NM_000875.3	156	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS10378.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGACTGGT	NONE	.	.	Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Pfam_domain:PF01030,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416	.	.	ENSP00000268035	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Asp156Val,ENST00000558762,;IGF1R,missense_variant,p.Asp35Val,ENST00000558355,;IGF1R,missense_variant,p.Asp156Val,ENST00000268035,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;	1078	156	85	SUCCESS
TMC5	79838	.	GRCh37	16	19468227	19468227	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	88	0	ENST00000396229.2:c.1049-3330A>C		p.*350*	ENST00000396229	NM_001105248.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45431.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTAACCAG	NONE	.	.	.	.	.	ENSP00000379531	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396229	Transcript	.	.	ENSG00000103534	22999	.	.	MODIFIER	5/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC5_HUMAN	TMC5	HGNC	.	.	UPI00001FEF87	SNV	TMC5,missense_variant,p.Asn67His,ENST00000219821,;TMC5,intron_variant,,ENST00000381414,;TMC5,intron_variant,,ENST00000561503,;TMC5,intron_variant,,ENST00000541464,;TMC5,intron_variant,,ENST00000396229,;TMC5,intron_variant,,ENST00000564959,;TMC5,intron_variant,,ENST00000542583,;TMC5,non_coding_transcript_exon_variant,,ENST00000567478,;	.	88	68	SUCCESS
NDUFB10	4716	.	GRCh37	16	2009598	2009598	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	53	108	0	ENST00000268668.6:c.-28G>C		p.*10*	ENST00000268668	NM_004548.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10451.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCGGGAGC	NONE	.	.	.	.	.	ENSP00000268668	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000268668	Transcript	.	.	ENSG00000140990	7696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUBA_HUMAN	NDUFB10	HGNC	Q96RX5_HUMAN,A8K761_HUMAN	.	UPI000013D7D0	SNV	NDUFB10,5_prime_UTR_variant,,ENST00000543683,;NDUFB10,5_prime_UTR_variant,,ENST00000268668,;NDUFB10,5_prime_UTR_variant,,ENST00000569148,;NDUFB10,5_prime_UTR_variant,,ENST00000570172,;RPL3L,upstream_gene_variant,,ENST00000565426,;RPL3L,upstream_gene_variant,,ENST00000268661,;RPS2,downstream_gene_variant,,ENST00000533186,;RPS2,downstream_gene_variant,,ENST00000526522,;RPS2,downstream_gene_variant,,ENST00000563194,;RPS2,downstream_gene_variant,,ENST00000530225,;RPS2,downstream_gene_variant,,ENST00000527302,;RPS2,downstream_gene_variant,,ENST00000343262,;RPS2,downstream_gene_variant,,ENST00000529806,;RPS2,downstream_gene_variant,,ENST00000526586,;SNORA10,downstream_gene_variant,,ENST00000384084,;SNORA64,downstream_gene_variant,,ENST00000384674,;RPL3L,upstream_gene_variant,,ENST00000566484,;NDUFB10,non_coding_transcript_exon_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000526908,;RPS2,downstream_gene_variant,,ENST00000532746,;RPS2,downstream_gene_variant,,ENST00000527826,;RPS2,downstream_gene_variant,,ENST00000527109,;RPS2,downstream_gene_variant,,ENST00000531065,;RPS2,downstream_gene_variant,,ENST00000534461,;RPS2,downstream_gene_variant,,ENST00000527871,;RPS2,downstream_gene_variant,,ENST00000533161,;RPS2,downstream_gene_variant,,ENST00000533872,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	90	108	82	SUCCESS
PDILT	204474	.	GRCh37	16	20396093	20396093	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	41	89	0	ENST00000302451.4:c.283G>A	p.Gly95Arg	p.G95R	ENST00000302451	NM_174924.1	95	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10584.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCATTCT	NONE	.	.	hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000305465	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000302451	Transcript	.	.	ENSG00000169340	27338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.44)	.	PDILT_HUMAN	PDILT	HGNC	.	.	UPI000000DAC6	SNV	PDILT,missense_variant,p.Gly136Arg,ENST00000575561,;PDILT,missense_variant,p.Gly95Arg,ENST00000302451,;RP11-429K17.1,upstream_gene_variant,,ENST00000577173,;	532	89	68	SUCCESS
SCNN1G	6340	.	GRCh37	16	23208731	23208731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	106	0	ENST00000300061.2:c.1060T>A	p.Ser354Thr	p.S354T	ENST00000300061	NM_001039.3	354	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS10608.1	1060	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTCTATA	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859,Gene3D:2qtsA02	.	.	ENSP00000300061	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,missense_variant,p.Ser354Thr,ENST00000300061,;CTC-391G2.1,intron_variant,,ENST00000563471,;	1203	106	73	SUCCESS
SRRM2	23524	.	GRCh37	16	2813113	2813113	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs145049321	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	82	0	ENST00000301740.8:c.2584G>T	p.Glu862Ter	p.E862*	ENST00000301740	NM_016333.3	862	Gag/Tag	0	A:0	.	.	.	.	T	E/*	protein_coding	YES	CCDS32373.1	2584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGAGCAA	NONE	.	.	hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	A:0.0001	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	rs145049321	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,stop_gained,p.Glu862Ter,ENST00000576924,;SRRM2,stop_gained,p.Glu766Ter,ENST00000571378,;SRRM2,stop_gained,p.Glu862Ter,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000572952,;	3133	82	76	SUCCESS
MVP	9961	.	GRCh37	16	29847023	29847023	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	122	0	ENST00000357402.5:c.578-2A>T		p.X193_splice	ENST00000357402	NM_017458.3	193		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10656.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCAGGGGA	NONE	.	.	.	.	.	ENSP00000349977	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357402	Transcript	.	.	ENSG00000013364	7531	.	.	HIGH	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MVP_HUMAN	MVP	HGNC	H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN	.	UPI000012FA9C	SNV	MVP,splice_acceptor_variant,,ENST00000357402,;MVP,splice_acceptor_variant,,ENST00000395353,;MVP,splice_acceptor_variant,,ENST00000563915,;MVP,intron_variant,,ENST00000452209,;MVP,intron_variant,,ENST00000563558,;MVP,downstream_gene_variant,,ENST00000566066,;MVP,downstream_gene_variant,,ENST00000566252,;MVP,downstream_gene_variant,,ENST00000570234,;MVP,splice_acceptor_variant,,ENST00000570061,;MVP,downstream_gene_variant,,ENST00000566554,;MVP,downstream_gene_variant,,ENST00000565830,;MVP,splice_acceptor_variant,,ENST00000563123,;MVP,intron_variant,,ENST00000569887,;MVP,intron_variant,,ENST00000566859,;MVP,upstream_gene_variant,,ENST00000568068,;MVP,downstream_gene_variant,,ENST00000563096,;MVP,downstream_gene_variant,,ENST00000562463,;MVP,downstream_gene_variant,,ENST00000569612,;	.	122	92	SUCCESS
CD2BP2	10421	.	GRCh37	16	30364546	30364546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	118	0	ENST00000305596.3:c.871G>T	p.Gly291Trp	p.G291W	ENST00000305596	NM_006110.2	291	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS10675.1	871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCCCGTGT	NONE	.	.	PROSITE_profiles:PS50829,hmmpanther:PTHR13138:SF3,hmmpanther:PTHR13138,Gene3D:3.30.1490.40,Pfam_domain:PF02213,SMART_domains:SM00444,Superfamily_domains:SSF55277	.	.	ENSP00000304903	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000305596	Transcript	.	.	ENSG00000169217	1656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0.02)	.	CD2B2_HUMAN	CD2BP2	HGNC	Q5QTR6_HUMAN	.	UPI000006D625	SNV	CD2BP2,missense_variant,p.Gly291Trp,ENST00000305596,;CD2BP2,missense_variant,p.Gly291Trp,ENST00000569466,;TBC1D10B,downstream_gene_variant,,ENST00000409939,;TBC1D10B,downstream_gene_variant,,ENST00000490703,;RP11-347C12.10,upstream_gene_variant,,ENST00000563252,;TBC1D10B,downstream_gene_variant,,ENST00000478158,;CD2BP2,downstream_gene_variant,,ENST00000564525,;TBC1D10B,downstream_gene_variant,,ENST00000475650,;	1047	118	104	SUCCESS
COX6A2	1339	.	GRCh37	16	31439697	31439697	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs73538329	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	30	168	0	ENST00000287490.4:c.-51C>T		p.*17*	ENST00000287490	NM_005205.3			0	T:0.0206	T:0.0356	.	T:0.0029	.	A	.	protein_coding	YES	CCDS10712.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCCTGG	NONE	byFrequency|byCluster|by1000G	.	.	T:0.001	T:0	ENSP00000287490	T:0.001	1/3	.	.	.	.	.	.	.	.	rs73538329	1/3	PASS	ENST00000287490	Transcript	.	T:0.0102	ENSG00000156885	2279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CX6A2_HUMAN	COX6A2	HGNC	.	.	UPI00000012DE	SNV	COX6A2,5_prime_UTR_variant,,ENST00000287490,;ITGAD,downstream_gene_variant,,ENST00000389202,;COX6A2,non_coding_transcript_exon_variant,,ENST00000565462,;ITGAD,downstream_gene_variant,,ENST00000567308,;	53	168	128	SUCCESS
TGFB1I1	7041	.	GRCh37	16	31484780	31484780	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	40	0	ENST00000394863.3:c.32T>C	p.Leu11Pro	p.L11P	ENST00000394863	NM_001042454.2	11	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42156.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTGGAGA	NONE	.	.	hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF24	.	.	ENSP00000378332	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000394863	Transcript	.	.	ENSG00000140682	11767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TGFI1_HUMAN	TGFB1I1	HGNC	H3BSN4_HUMAN,H3BS04_HUMAN	.	UPI00001FFFA9	SNV	TGFB1I1,missense_variant,p.Leu11Pro,ENST00000394863,;TGFB1I1,missense_variant,p.Trp7Arg,ENST00000565360,;TGFB1I1,5_prime_UTR_variant,,ENST00000361773,;TGFB1I1,5_prime_UTR_variant,,ENST00000394858,;TGFB1I1,5_prime_UTR_variant,,ENST00000562566,;TGFB1I1,5_prime_UTR_variant,,ENST00000565454,;TGFB1I1,5_prime_UTR_variant,,ENST00000567607,;TGFB1I1,missense_variant,p.Leu11Pro,ENST00000563712,;TGFB1I1,5_prime_UTR_variant,,ENST00000564804,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000569703,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000567524,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000564176,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000561785,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000562165,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000569254,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000568142,;TGFB1I1,intron_variant,,ENST00000567066,;	162	40	29	SUCCESS
ABCC12	94160	.	GRCh37	16	48158122	48158122	+	splice_donor_variant	Splice_Site	SNP	A	A	T	rs751465928	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	34	81	0	ENST00000311303.3:c.1587+2T>A		p.X529_splice	ENST00000311303	NM_033226.2	529		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10730.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTACCTGT	NONE	.	.	.	.	.	ENSP00000311030	.	.	.	.	.	.	.	.	.	.	rs751465928	.	PASS	ENST00000311303	Transcript	.	.	ENSG00000140798	14640	.	.	HIGH	10/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP9_HUMAN	ABCC12	HGNC	E9PHY2_HUMAN	.	UPI0000456987	SNV	ABCC12,splice_donor_variant,,ENST00000416054,;ABCC12,splice_donor_variant,,ENST00000448542,;ABCC12,splice_donor_variant,,ENST00000311303,;ABCC12,splice_donor_variant,,ENST00000532494,;ABCC12,splice_donor_variant,,ENST00000529504,;ABCC12,splice_donor_variant,,ENST00000528693,;ABCC12,splice_donor_variant,,ENST00000497206,;ABCC12,splice_donor_variant,,ENST00000534418,;ABCC12,splice_donor_variant,,ENST00000529084,;	.	81	47	SUCCESS
MT1M	4499	.	GRCh37	16	56667700	56667700	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs767385673	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	37	0	ENST00000379818.3:c.132T>A	p.Cys44Ter	p.C44*	ENST00000379818	NM_176870.2	44	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS42166.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTGCCCA	NONE	.	.	Prints_domain:PR00860,Superfamily_domains:SSF57868,Gene3D:4mt2A00,Pfam_domain:PF00131,hmmpanther:PTHR23299,hmmpanther:PTHR23299:SF6	.	.	ENSP00000369146	.	3/3	.	.	.	.	.	.	.	.	rs767385673	3/3	PASS	ENST00000379818	Transcript	.	.	ENSG00000205364	14296	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT1M_HUMAN	MT1M	HGNC	.	.	UPI0000071D97	SNV	MT1M,stop_gained,p.Cys44Ter,ENST00000379818,;AC026461.1,upstream_gene_variant,,ENST00000600389,;MT1A,upstream_gene_variant,,ENST00000290705,;MT1M,downstream_gene_variant,,ENST00000570233,;MT1JP,upstream_gene_variant,,ENST00000564564,;MT1JP,upstream_gene_variant,,ENST00000563395,;MT1JP,upstream_gene_variant,,ENST00000444023,;	631	37	24	SUCCESS
CDH11	1009	.	GRCh37	16	64981610	64981610	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	33	163	0	ENST00000268603.4:c.2287A>T	p.Thr763Ser	p.T763S	ENST00000268603	NM_001797.2	763	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS10803.1	2287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGTGGTGG	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000268603	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.98)	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Thr763Ser,ENST00000268603,;CDH11,missense_variant,p.Thr637Ser,ENST00000566827,;CDH11,3_prime_UTR_variant,,ENST00000394156,;	2903	163	133	SUCCESS
CMTM4	146223	.	GRCh37	16	66656097	66656097	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	27	65	0	ENST00000330687.4:c.491A>T	p.Tyr164Phe	p.Y164F	ENST00000330687	NM_181521.2	164	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10817.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATATGCC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01284,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF29,PROSITE_profiles:PS51225	.	.	ENSP00000333833	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000330687	Transcript	.	.	ENSG00000183723	19175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(1)	.	CKLF4_HUMAN	CMTM4	HGNC	J3QRP2_HUMAN	.	UPI00000740BD	SNV	CMTM4,missense_variant,p.Tyr164Phe,ENST00000394106,;CMTM4,missense_variant,p.Tyr164Phe,ENST00000330687,;CMTM4,missense_variant,p.Tyr135Phe,ENST00000563952,;CMTM4,missense_variant,p.Tyr70Phe,ENST00000561680,;CMTM4,upstream_gene_variant,,ENST00000581487,;	673	65	42	SUCCESS
FHOD1	29109	.	GRCh37	16	67264347	67264347	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763650649	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	80	0	ENST00000258201.4:c.2921T>C	p.Met974Thr	p.M974T	ENST00000258201	NM_013241.2	974	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS10834.1	2921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCATGATG	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF189,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000258201	.	19/22	.	.	.	.	.	.	.	.	rs763650649	19/22	PASS	ENST00000258201	Transcript	.	.	ENSG00000135723	17905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	FHOD1_HUMAN	FHOD1	HGNC	.	.	UPI000013CFB9	SNV	FHOD1,missense_variant,p.Met974Thr,ENST00000258201,;TMEM208,downstream_gene_variant,,ENST00000304800,;LRRC29,upstream_gene_variant,,ENST00000433915,;TMEM208,downstream_gene_variant,,ENST00000563953,;LRRC29,upstream_gene_variant,,ENST00000393992,;TMEM208,downstream_gene_variant,,ENST00000565201,;LRRC29,upstream_gene_variant,,ENST00000409509,;LRRC29,upstream_gene_variant,,ENST00000447579,;LRRC29,upstream_gene_variant,,ENST00000424285,;AC040160.1,upstream_gene_variant,,ENST00000454102,;LRRC29,upstream_gene_variant,,ENST00000341546,;TMEM208,downstream_gene_variant,,ENST00000563426,;LRRC29,upstream_gene_variant,,ENST00000485549,;LRRC29,upstream_gene_variant,,ENST00000462169,;FHOD1,3_prime_UTR_variant,,ENST00000567561,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;FHOD1,non_coding_transcript_exon_variant,,ENST00000566006,;FHOD1,downstream_gene_variant,,ENST00000561922,;TMEM208,downstream_gene_variant,,ENST00000564649,;TMEM208,downstream_gene_variant,,ENST00000563168,;FHOD1,downstream_gene_variant,,ENST00000568595,;FHOD1,downstream_gene_variant,,ENST00000567509,;TMEM208,downstream_gene_variant,,ENST00000564087,;TMEM208,downstream_gene_variant,,ENST00000566486,;TMEM208,downstream_gene_variant,,ENST00000567193,;FHOD1,downstream_gene_variant,,ENST00000562266,;FHOD1,downstream_gene_variant,,ENST00000569888,;TMEM208,downstream_gene_variant,,ENST00000562235,;TMEM208,downstream_gene_variant,,ENST00000561586,;TMEM208,downstream_gene_variant,,ENST00000563271,;FHOD1,upstream_gene_variant,,ENST00000569085,;	3169	80	97	SUCCESS
PLEKHG4	25894	.	GRCh37	16	67319047	67319047	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	28	80	0	ENST00000360461.5:c.2124A>T	p.Gly708=	p.G708=	ENST00000360461	NM_001129727.1	708	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32466.1	2124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGGAGG	NONE	.	.	hmmpanther:PTHR22826:SF110,hmmpanther:PTHR22826	.	.	ENSP00000353646	.	12/21	.	.	.	.	.	.	.	.	COSM1493705	12/21	PASS	ENST00000360461	Transcript	.	.	ENSG00000196155	24501	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PKHG4_HUMAN	PLEKHG4	HGNC	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN	.	UPI000013C774	SNV	PLEKHG4,synonymous_variant,p.%3D,ENST00000360461,;PLEKHG4,synonymous_variant,p.%3D,ENST00000450733,;PLEKHG4,synonymous_variant,p.%3D,ENST00000379344,;PLEKHG4,synonymous_variant,p.%3D,ENST00000427155,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;KCTD19,downstream_gene_variant,,ENST00000304372,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;KCTD19,downstream_gene_variant,,ENST00000562841,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,upstream_gene_variant,,ENST00000569875,;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,intron_variant,,ENST00000393966,;KCTD19,downstream_gene_variant,,ENST00000570049,;KCTD19,downstream_gene_variant,,ENST00000566392,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;PLEKHG4,upstream_gene_variant,,ENST00000567136,;KCTD19,downstream_gene_variant,,ENST00000569333,;	4659	80	49	SUCCESS
SLC7A6OS	84138	.	GRCh37	16	68344261	68344261	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	30	132	0	ENST00000263997.6:c.448G>A	p.Ala150Thr	p.A150T	ENST00000263997	NM_032178.2	150	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10865.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCTTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31196:SF2,hmmpanther:PTHR31196	.	.	ENSP00000263997	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000263997	Transcript	.	.	ENSG00000103061	25807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.47)	.	S7A6O_HUMAN	SLC7A6OS	HGNC	.	.	UPI000013D49E	SNV	SLC7A6OS,missense_variant,p.Ala150Thr,ENST00000263997,;PRMT7,upstream_gene_variant,,ENST00000441236,;PRMT7,upstream_gene_variant,,ENST00000339507,;PRMT7,upstream_gene_variant,,ENST00000348497,;PRMT7,upstream_gene_variant,,ENST00000569047,;PRMT7,upstream_gene_variant,,ENST00000569571,;PRMT7,upstream_gene_variant,,ENST00000566657,;PRMT7,upstream_gene_variant,,ENST00000565745,;PRMT7,upstream_gene_variant,,ENST00000449359,;snoU13,downstream_gene_variant,,ENST00000458872,;PRMT7,upstream_gene_variant,,ENST00000565983,;PRMT7,upstream_gene_variant,,ENST00000563520,;PRMT7,upstream_gene_variant,,ENST00000564050,;PRMT7,upstream_gene_variant,,ENST00000564441,;SLC7A6OS,non_coding_transcript_exon_variant,,ENST00000561933,;SLC7A6OS,non_coding_transcript_exon_variant,,ENST00000568538,;PRMT7,upstream_gene_variant,,ENST00000565356,;PRMT7,upstream_gene_variant,,ENST00000562381,;PRMT7,upstream_gene_variant,,ENST00000562050,;PRMT7,upstream_gene_variant,,ENST00000566341,;PRMT7,upstream_gene_variant,,ENST00000568975,;	467	132	121	SUCCESS
ABAT	18	.	GRCh37	16	8860122	8860122	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	39	78	0	ENST00000268251.8:c.598A>T	p.Asn200Tyr	p.N200Y	ENST00000268251	NM_020686.5	200	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS10534.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTAACCAG	NONE	.	.	hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF6,Gene3D:3.40.640.10,Pfam_domain:PF00202,TIGRFAM_domain:TIGR00699,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000379845	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000396600	Transcript	.	.	ENSG00000183044	23	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GABT_HUMAN	ABAT	HGNC	H3BRJ1_HUMAN,H3BP74_HUMAN	.	UPI000006D4FC	SNV	ABAT,missense_variant,p.Asn200Tyr,ENST00000425191,;ABAT,missense_variant,p.Asn200Tyr,ENST00000396600,;ABAT,missense_variant,p.Asn215Tyr,ENST00000567812,;ABAT,missense_variant,p.Asn200Tyr,ENST00000569156,;ABAT,missense_variant,p.Asn200Tyr,ENST00000268251,;ABAT,3_prime_UTR_variant,,ENST00000566590,;ABAT,non_coding_transcript_exon_variant,,ENST00000564453,;	1536	78	69	SUCCESS
ANKRD11	29123	.	GRCh37	16	89337125	89337125	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	36	0	ENST00000301030.4:c.7806+100G>T		p.*2602*	ENST00000301030	NM_001256183.1			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GGCAGCGGCCT	NONE	.	.	.	.	.	ENSP00000472390	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000602042	Transcript	.	.	ENSG00000268218	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YP023_HUMAN	AC137932.1	Clone_based_ensembl_gene	.	.	UPI000006E0E5	SNV	AC137932.1,3_prime_UTR_variant,,ENST00000602042,;ANKRD11,intron_variant,,ENST00000378330,;ANKRD11,intron_variant,,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;RP11-46C24.5,upstream_gene_variant,,ENST00000566427,;ANKRD11,intron_variant,,ENST00000330736,;	1333	36	32	SUCCESS
MYH4	4622	.	GRCh37	17	10357033	10357033	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	27	139	0	ENST00000255381.2:c.2861T>A	p.Leu954His	p.L954H	ENST00000255381	NM_017533.2	954	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11154.1	2861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGCTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Superfamily_domains:SSF90257	.	.	ENSP00000255381	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Leu954His,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2972	139	133	SUCCESS
MYH4	4622	.	GRCh37	17	10357189	10357189	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs138202203	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	117	0	ENST00000255381.2:c.2705T>A	p.Leu902Ter	p.L902*	ENST00000255381	NM_017533.2	902	tTg/tAg	0	G:0.0011	G:0.0008	.	G:0	.	T	L/*	protein_coding	YES	CCDS11154.1	2705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAAGGCA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	G:0	G:0	ENSP00000255381	G:0	23/40	.	.	.	.	.	.	.	.	rs138202203	23/40	PASS	ENST00000255381	Transcript	.	G:0.0002	ENSG00000264424	7574	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,stop_gained,p.Leu902Ter,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2816	117	87	SUCCESS
MYH1	4619	.	GRCh37	17	10409339	10409339	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	41	185	0	ENST00000226207.5:c.2046T>A	p.Thr682=	p.T682=	ENST00000226207	NM_005963.3	682	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11155.1	2046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTAGTTTC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000226207	.	18/40	.	.	.	.	.	.	.	.	.	18/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2141	185	181	SUCCESS
TTC19	54902	.	GRCh37	17	15902795	15902795	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs774138075	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	36	65	0	ENST00000261647.5:c.-368C>T		p.*123*	ENST00000261647	NM_001271420.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11174.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCGCCCA	NONE	byFrequency	.	.	.	.	ENSP00000261647	.	1/10	.	.	.	.	.	.	.	.	rs774138075	1/10	PASS	ENST00000261647	Transcript	.	.	ENSG00000011295	26006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC19_HUMAN	TTC19	HGNC	.	.	UPI0000042226	SNV	TTC19,5_prime_UTR_variant,,ENST00000486880,;TTC19,5_prime_UTR_variant,,ENST00000261647,;ZSWIM7,intron_variant,,ENST00000486655,;ZSWIM7,intron_variant,,ENST00000399277,;ZSWIM7,intron_variant,,ENST00000472495,;ZSWIM7,intron_variant,,ENST00000497719,;ZSWIM7,intron_variant,,ENST00000495825,;ZSWIM7,intron_variant,,ENST00000399280,;TTC19,upstream_gene_variant,,ENST00000497842,;ZSWIM7,intron_variant,,ENST00000491631,;ZSWIM7,intron_variant,,ENST00000585208,;ZSWIM7,intron_variant,,ENST00000579955,;ZSWIM7,intron_variant,,ENST00000476496,;ZSWIM7,intron_variant,,ENST00000486706,;ZSWIM7,intron_variant,,ENST00000460252,;ZSWIM7,intron_variant,,ENST00000490395,;ZSWIM7,intron_variant,,ENST00000474716,;ZSWIM7,intron_variant,,ENST00000460315,;ZSWIM7,intron_variant,,ENST00000584519,;TTC19,upstream_gene_variant,,ENST00000470399,;TTC19,upstream_gene_variant,,ENST00000466729,;TTC19,upstream_gene_variant,,ENST00000583704,;TTC19,upstream_gene_variant,,ENST00000475723,;	102	65	59	SUCCESS
CCDC144A	9720	.	GRCh37	17	16667390	16667390	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	149	0	ENST00000360524.8:c.3999T>A	p.Pro1333=	p.P1333=	ENST00000360524	NM_014695.1	1333	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45621.1	3999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTTGCGT	NONE	.	.	hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF0,Pfam_domain:PF12001	.	.	ENSP00000439262	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,synonymous_variant,p.%3D,ENST00000443444,;CCDC144A,synonymous_variant,p.%3D,ENST00000360524,;CCDC144A,synonymous_variant,p.%3D,ENST00000456009,;CCDC144A,synonymous_variant,p.%3D,ENST00000399273,;RP11-219A15.1,synonymous_variant,p.%3D,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;	4139	149	146	SUCCESS
BLMH	642	.	GRCh37	17	28614931	28614931	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	71	0	ENST00000261714.6:c.356T>G	p.Val119Gly	p.V119G	ENST00000261714	NM_000386.3	119	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS32604.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCACAAAA	NONE	.	.	hmmpanther:PTHR10363,Gene3D:3.90.70.10,Pfam_domain:PF03051,PIRSF_domain:PIRSF005700,Superfamily_domains:SSF54001	.	.	ENSP00000261714	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000261714	Transcript	.	.	ENSG00000108578	1059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	deleterious(0)	.	BLMH_HUMAN	BLMH	HGNC	K7EMJ3_HUMAN,J3KS79_HUMAN	.	UPI0000000C54	SNV	BLMH,start_lost,p.Val1?,ENST00000581037,;BLMH,missense_variant,p.Val32Gly,ENST00000394819,;BLMH,missense_variant,p.Val119Gly,ENST00000584603,;BLMH,missense_variant,p.Val119Gly,ENST00000261714,;BLMH,missense_variant,p.Val38Gly,ENST00000580709,;BLMH,intron_variant,,ENST00000577623,;RNU6-1267P,downstream_gene_variant,,ENST00000410747,;BLMH,upstream_gene_variant,,ENST00000582669,;BLMH,3_prime_UTR_variant,,ENST00000578090,;BLMH,upstream_gene_variant,,ENST00000579325,;BLMH,downstream_gene_variant,,ENST00000582749,;BLMH,downstream_gene_variant,,ENST00000577290,;	531	71	74	SUCCESS
BLMH	642	.	GRCh37	17	28616480	28616480	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	56	182	0	ENST00000261714.6:c.232T>A	p.Cys78Ser	p.C78S	ENST00000261714	NM_000386.3	78	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS32604.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAAGAAA	NONE	.	.	hmmpanther:PTHR10363,PROSITE_patterns:PS00139,Gene3D:3.90.70.10,Pfam_domain:PF03051,PIRSF_domain:PIRSF005700,Superfamily_domains:SSF54001	.	.	ENSP00000261714	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000261714	Transcript	.	.	ENSG00000108578	1059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	deleterious(0.04)	.	BLMH_HUMAN	BLMH	HGNC	K7EMJ3_HUMAN,J3KS79_HUMAN	.	UPI0000000C54	SNV	BLMH,missense_variant,p.Cys78Ser,ENST00000584603,;BLMH,missense_variant,p.Cys78Ser,ENST00000261714,;BLMH,5_prime_UTR_variant,,ENST00000580709,;BLMH,intron_variant,,ENST00000394819,;BLMH,intron_variant,,ENST00000577623,;BLMH,upstream_gene_variant,,ENST00000581037,;RNU6-1267P,upstream_gene_variant,,ENST00000410747,;BLMH,upstream_gene_variant,,ENST00000582669,;BLMH,3_prime_UTR_variant,,ENST00000577290,;BLMH,intron_variant,,ENST00000578090,;BLMH,upstream_gene_variant,,ENST00000579325,;BLMH,downstream_gene_variant,,ENST00000582749,;	407	182	171	SUCCESS
OR1A2	26189	.	GRCh37	17	3101071	3101071	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	140	0	ENST00000381951.1:c.259T>A	p.Leu87Met	p.L87M	ENST00000381951	NM_012352.1	87	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS11021.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTTGGGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF319,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000371377	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381951	Transcript	.	.	ENSG00000172150	8180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.08)	.	OR1A2_HUMAN	OR1A2	HGNC	.	.	UPI0000041E56	SNV	OR1A2,missense_variant,p.Leu87Met,ENST00000381951,;	259	140	80	SUCCESS
SLFN12	55106	.	GRCh37	17	33738498	33738498	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	29	128	0	ENST00000304905.5:c.1596A>T	p.Lys532Asn	p.K532N	ENST00000304905	NM_018042.3	532	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS11295.1	1596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTTTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12155:SF2,hmmpanther:PTHR12155	.	.	ENSP00000378063	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000394562	Transcript	.	.	ENSG00000172123	25500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.03)	.	SLN12_HUMAN	SLFN12	HGNC	C9JIA1_HUMAN,C9J4K7_HUMAN	.	UPI000013E9E5	SNV	SLFN12,missense_variant,p.Lys532Asn,ENST00000304905,;SLFN12,missense_variant,p.Lys532Asn,ENST00000452764,;SLFN12,missense_variant,p.Lys532Asn,ENST00000394562,;SLFN12,non_coding_transcript_exon_variant,,ENST00000460530,;RP11-686D22.8,upstream_gene_variant,,ENST00000587012,;SLFN12,non_coding_transcript_exon_variant,,ENST00000479326,;RP11-686D22.3,upstream_gene_variant,,ENST00000590539,;RP11-686D22.7,upstream_gene_variant,,ENST00000590824,;	2120	128	151	SUCCESS
MYO19	80179	.	GRCh37	17	34859822	34859822	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	30	0	ENST00000431794.3:c.1944C>A	p.Thr648=	p.T648=	ENST00000431794	NM_001163735.1	648	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54112.1	1944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGGTCTC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000409936	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000431794	Transcript	.	.	ENSG00000141140	26234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO19_HUMAN	MYO19	HGNC	K7EQ57_HUMAN,K7EP95_HUMAN,K7EMZ0_HUMAN,K7EJW5_HUMAN	.	UPI000173AA19	SNV	MYO19,synonymous_variant,p.%3D,ENST00000268852,;MYO19,synonymous_variant,p.%3D,ENST00000431794,;ZNHIT3,downstream_gene_variant,,ENST00000588253,;MYO19,3_prime_UTR_variant,,ENST00000586908,;MYO19,non_coding_transcript_exon_variant,,ENST00000593222,;MYO19,non_coding_transcript_exon_variant,,ENST00000588377,;MYO19,non_coding_transcript_exon_variant,,ENST00000586328,;MYO19,intron_variant,,ENST00000591794,;MYO19,downstream_gene_variant,,ENST00000591477,;MYO19,downstream_gene_variant,,ENST00000588727,;MYO19,upstream_gene_variant,,ENST00000590233,;MYO19,downstream_gene_variant,,ENST00000591017,;MYO19,upstream_gene_variant,,ENST00000593275,;MYO19,downstream_gene_variant,,ENST00000588471,;MYO19,downstream_gene_variant,,ENST00000592735,;	2467	30	28	SUCCESS
ARL5C	390790	.	GRCh37	17	37313165	37313165	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	85	0	ENST00000269586.7:c.522T>A	p.Ser174=	p.S174=	ENST00000269586	NM_001143968.1	174	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45664.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGAGATTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Pfam_domain:PF00025,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF148,PROSITE_profiles:PS51417	.	.	ENSP00000387615	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000444555	Transcript	.	.	ENSG00000141748	31111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL5C_HUMAN	ARL5C	HGNC	.	.	UPI00001600CC	SNV	ARL5C,synonymous_variant,p.%3D,ENST00000444555,;ARL5C,synonymous_variant,p.%3D,ENST00000269586,;PLXDC1,upstream_gene_variant,,ENST00000441877,;PLXDC1,upstream_gene_variant,,ENST00000539608,;PLXDC1,upstream_gene_variant,,ENST00000415163,;PLXDC1,upstream_gene_variant,,ENST00000444911,;PLXDC1,upstream_gene_variant,,ENST00000579190,;PLXDC1,upstream_gene_variant,,ENST00000577941,;PLXDC1,upstream_gene_variant,,ENST00000580667,;PLXDC1,upstream_gene_variant,,ENST00000583285,;PLXDC1,upstream_gene_variant,,ENST00000578517,;ARL5C,downstream_gene_variant,,ENST00000578912,;PLXDC1,upstream_gene_variant,,ENST00000461225,;PLXDC1,upstream_gene_variant,,ENST00000578808,;	862	85	113	SUCCESS
PNMT	5409	.	GRCh37	17	37826074	37826074	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	24	94	0	ENST00000269582.2:c.395T>A	p.Leu132His	p.L132H	ENST00000269582	NM_002686.4	132	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS11343.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTCATTG	NONE	.	.	PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF18,Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,Superfamily_domains:SSF53335	.	.	ENSP00000269582	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000269582	Transcript	.	.	ENSG00000141744	9160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(0.1)	.	PNMT_HUMAN	PNMT	HGNC	J3QRI3_HUMAN,A8MT87_HUMAN	.	UPI0000111BE4	SNV	PNMT,missense_variant,p.Leu34His,ENST00000394246,;PNMT,missense_variant,p.Leu132His,ENST00000269582,;PNMT,missense_variant,p.Leu132His,ENST00000581428,;PGAP3,downstream_gene_variant,,ENST00000429199,;PGAP3,downstream_gene_variant,,ENST00000579146,;TCAP,downstream_gene_variant,,ENST00000578283,;PGAP3,downstream_gene_variant,,ENST00000300658,;TCAP,downstream_gene_variant,,ENST00000309889,;PGAP3,downstream_gene_variant,,ENST00000378011,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000582276,;PGAP3,downstream_gene_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000309862,;	713	95	98	SUCCESS
KRTAP9-3	83900	.	GRCh37	17	39388765	39388765	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	29	170	0	ENST00000411528.2:c.12T>A	p.Cys4Ter	p.C4*	ENST00000411528	NM_031962.2	4	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS11385.1	12	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTTGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF46,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000392189	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000411528	Transcript	.	.	ENSG00000204873	16927	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA93_HUMAN	KRTAP9-3	HGNC	.	.	UPI0000071C07	SNV	KRTAP9-3,stop_gained,p.Cys4Ter,ENST00000411528,;KRTAP9-2,downstream_gene_variant,,ENST00000377721,;	51	170	224	SUCCESS
KRT35	3886	.	GRCh37	17	39635249	39635249	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	66	0	ENST00000393989.1:c.712-2A>T		p.X238_splice	ENST00000393989	NM_002280.4	238		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11394.2	.	MUTECT|MUSE|VARSCANS	.	CTTCCTATAGC	NONE	.	.	.	.	.	ENSP00000377558	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393989	Transcript	.	.	ENSG00000197079	6453	.	.	HIGH	3/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KRT35_HUMAN	KRT35	HGNC	C4AM86_HUMAN	.	UPI0000D74C4B	SNV	KRT35,splice_acceptor_variant,,ENST00000246639,;KRT35,splice_acceptor_variant,,ENST00000393989,;	.	66	78	SUCCESS
KRT17	3872	.	GRCh37	17	39777963	39777963	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs748709880	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	54	220	1	ENST00000311208.8:c.716T>A	p.Val239Glu	p.V239E	ENST00000311208	NM_000422.2	239	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS11402.1	716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCACATTG	NONE	byFrequency	.	hmmpanther:PTHR23239:SF91,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF46579,Prints_domain:PR01248	.	.	ENSP00000308452	.	4/8	.	.	.	.	.	.	.	.	rs748709880	4/8	PASS	ENST00000311208	Transcript	.	.	ENSG00000128422	6427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	K1C17_HUMAN	KRT17	HGNC	K7ESE1_HUMAN,B4E2P9_HUMAN	.	UPI0000148FD6	SNV	KRT17,missense_variant,p.Val204Glu,ENST00000577817,;KRT17,missense_variant,p.Val33Glu,ENST00000590038,;JUP,missense_variant,p.Val398Glu,ENST00000540235,;KRT17,missense_variant,p.Val239Glu,ENST00000311208,;KRT17,missense_variant,p.Val34Glu,ENST00000463128,;KRT42P,downstream_gene_variant,,ENST00000398469,;KRT42P,downstream_gene_variant,,ENST00000438131,;KRT17,non_coding_transcript_exon_variant,,ENST00000493253,;KRT17,downstream_gene_variant,,ENST00000491673,;	784	221	230	SUCCESS
CRHR1	1394	.	GRCh37	17	43893924	43893924	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	51	0	ENST00000398285.3:c.217T>A	p.Tyr73Asn	p.Y73N	ENST00000398285	NM_001145146.1	73	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS45712.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTATGGT	NONE	.	.	Prints_domain:PR01279,Superfamily_domains:SSF111418,SMART_domains:SM00008,Pfam_domain:PF02793,hmmpanther:PTHR12011:SF175,hmmpanther:PTHR12011,PROSITE_profiles:PS50227	.	.	ENSP00000381333	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.97)	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,missense_variant,p.Tyr73Asn,ENST00000398285,;CRHR1,missense_variant,p.Tyr73Asn,ENST00000577353,;CRHR1,missense_variant,p.Tyr73Asn,ENST00000314537,;CRHR1,5_prime_UTR_variant,,ENST00000293493,;CRHR1,5_prime_UTR_variant,,ENST00000339069,;CRHR1,intron_variant,,ENST00000352855,;RP11-105N13.4,downstream_gene_variant,,ENST00000582044,;RP11-105N13.4,downstream_gene_variant,,ENST00000587305,;CRHR1,start_lost,p.Tyr1?,ENST00000583888,;CRHR1,missense_variant,p.Tyr41Asn,ENST00000580955,;CRHR1,missense_variant,p.Tyr73Asn,ENST00000347197,;CRHR1,intron_variant,,ENST00000582766,;	217	51	72	SUCCESS
OSBPL7	114881	.	GRCh37	17	45888020	45888020	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	100	0	ENST00000007414.3:c.1820A>T	p.Lys607Met	p.K607M	ENST00000007414	NM_145798.2	607	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS11515.1	1820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTTGTTC	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972	.	.	ENSP00000007414	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Lys607Met,ENST00000392507,;OSBPL7,missense_variant,p.Lys607Met,ENST00000007414,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,downstream_gene_variant,,ENST00000580140,;OSBPL7,upstream_gene_variant,,ENST00000578461,;	2012	100	116	SUCCESS
HOXB2	3212	.	GRCh37	17	46622356	46622356	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	38	0	ENST00000330070.4:c.-83G>T		p.*28*	ENST00000330070	NM_002145.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11527.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCCCGATTT	NONE	.	.	.	.	.	ENSP00000331741	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000330070	Transcript	.	.	ENSG00000173917	5113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HXB2_HUMAN	HOXB2	HGNC	D3DTV2_HUMAN	.	UPI000012CF4C	SNV	HOXB2,5_prime_UTR_variant,,ENST00000330070,;HOXB3,downstream_gene_variant,,ENST00000470495,;HOXB3,downstream_gene_variant,,ENST00000472863,;HOXB3,downstream_gene_variant,,ENST00000311626,;HOXB-AS1,intron_variant,,ENST00000435312,;HOXB-AS1,intron_variant,,ENST00000504972,;HOXB-AS1,upstream_gene_variant,,ENST00000508688,;HOXB-AS1,upstream_gene_variant,,ENST00000502764,;HOXB-AS3,upstream_gene_variant,,ENST00000465846,;HOXB2,upstream_gene_variant,,ENST00000504772,;HOXB2,upstream_gene_variant,,ENST00000574746,;HOXB2,upstream_gene_variant,,ENST00000571287,;	1086	38	27	SUCCESS
HOXB8	3218	.	GRCh37	17	46691811	46691811	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	100	0	ENST00000239144.4:c.256T>A	p.Tyr86Asn	p.Y86N	ENST00000239144	NM_024016.3	86	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS11533.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTAGAAAT	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF46	.	.	ENSP00000239144	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239144	Transcript	.	.	ENSG00000120068	5119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious(0.02)	.	HXB8_HUMAN	HOXB8	HGNC	I3L221_HUMAN	.	UPI000012CF63	SNV	HOXB8,missense_variant,p.Tyr86Asn,ENST00000576562,;HOXB8,missense_variant,p.Tyr86Asn,ENST00000239144,;HOXB8,downstream_gene_variant,,ENST00000468443,;HOXB7,upstream_gene_variant,,ENST00000239165,;HOXB8,upstream_gene_variant,,ENST00000498634,;HOXB7,intron_variant,,ENST00000567101,;	491	100	106	SUCCESS
WFIKKN2	124857	.	GRCh37	17	48917022	48917022	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	40	167	0	ENST00000311378.4:c.373A>T	p.Ile125Phe	p.I125F	ENST00000311378	NM_175575.5	125	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11575.1	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACATCTGG	NONE	.	.	hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF183,Superfamily_domains:SSF100895	.	.	ENSP00000311184	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311378	Transcript	.	.	ENSG00000173714	30916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	deleterious(0)	.	WFKN2_HUMAN	WFIKKN2	HGNC	C9J6G4_HUMAN	.	UPI000004139B	SNV	WFIKKN2,missense_variant,p.Ile125Phe,ENST00000311378,;WFIKKN2,missense_variant,p.Ile32Phe,ENST00000426127,;RP11-506D12.5,downstream_gene_variant,,ENST00000572491,;	901	167	134	SUCCESS
ZNF594	84622	.	GRCh37	17	5086891	5086891	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	90	0	ENST00000399604.4:c.661A>T	p.Lys221Ter	p.K221*	ENST00000399604		221	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS42241.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTAAAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF127,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000382513	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399604	Transcript	.	.	ENSG00000180626	29392	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN594_HUMAN	ZNF594	HGNC	I3L508_HUMAN	.	UPI00001C1FDF	SNV	ZNF594,stop_gained,p.Lys221Ter,ENST00000575779,;ZNF594,stop_gained,p.Lys221Ter,ENST00000399604,;ZNF594,downstream_gene_variant,,ENST00000576772,;	802	90	73	SUCCESS
TRIM25	7706	.	GRCh37	17	54981763	54981763	+	synonymous_variant	Silent	SNP	T	T	A	rs200224902	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	28	95	0	ENST00000316881.4:c.780A>T	p.Thr260=	p.T260=	ENST00000316881	NM_005082.4	260	acA/acT	0	.	C:0	.	C:0	.	A	T	protein_coding	YES	CCDS11591.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTGTCGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF293	C:0.001	.	ENSP00000323889	C:0	3/9	.	.	.	.	.	.	.	.	rs200224902	3/9	PASS	ENST00000316881	Transcript	.	C:0.0002	ENSG00000121060	12932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	TRI25_HUMAN	TRIM25	HGNC	.	.	UPI00001AE6B8	SNV	TRIM25,synonymous_variant,p.%3D,ENST00000316881,;TRIM25,synonymous_variant,p.%3D,ENST00000537230,;TRIM25,non_coding_transcript_exon_variant,,ENST00000572550,;TRIM25,downstream_gene_variant,,ENST00000574997,;TRIM25,3_prime_UTR_variant,,ENST00000572021,;TRIM25,non_coding_transcript_exon_variant,,ENST00000570749,;TRIM25,upstream_gene_variant,,ENST00000570473,;	830	95	116	SUCCESS
BZRAP1	0	.	GRCh37	17	56405243	56405243	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	34	0	ENST00000343736.4:c.39T>C	p.Pro13=	p.P13=	ENST00000343736		13	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11605.1	39	MUTECT|MUSE	.	GCTCCAGGGTC	NONE	.	.	hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234	.	.	ENSP00000345824	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,synonymous_variant,p.%3D,ENST00000343736,;BZRAP1,synonymous_variant,p.%3D,ENST00000355701,;BZRAP1,synonymous_variant,p.%3D,ENST00000268893,;MIR142,downstream_gene_variant,,ENST00000384835,;BZRAP1-AS1,intron_variant,,ENST00000579527,;BZRAP1-AS1,upstream_gene_variant,,ENST00000578334,;BZRAP1-AS1,upstream_gene_variant,,ENST00000580515,;BZRAP1-AS1,upstream_gene_variant,,ENST00000580633,;MIR142,downstream_gene_variant,,ENST00000579003,;	203	34	47	SUCCESS
PITPNM3	83394	.	GRCh37	17	6373607	6373607	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	50	0	ENST00000262483.8:c.1746A>T	p.Thr582=	p.T582=	ENST00000262483	NM_031220.3	582	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS11076.1	1746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCTGTGGA	NONE	.	.	PROSITE_profiles:PS51043,hmmpanther:PTHR10658,Pfam_domain:PF02862	.	.	ENSP00000262483	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000262483	Transcript	.	.	ENSG00000091622	21043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PITM3_HUMAN	PITPNM3	HGNC	.	.	UPI000022A281	SNV	PITPNM3,synonymous_variant,p.%3D,ENST00000262483,;PITPNM3,synonymous_variant,p.%3D,ENST00000421306,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;	1834	50	41	SUCCESS
CEP112	201134	.	GRCh37	17	64059102	64059102	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	57	0	ENST00000392769.2:c.1053A>T	p.Leu351=	p.L351=	ENST00000392769	NM_145036.3	351	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32710.1	1053	MUTECT|MUSE|VARSCANS	.	TTATTTAGAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18871	.	.	ENSP00000376522	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000392769	Transcript	.	.	ENSG00000154240	28514	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE112_HUMAN	CEP112	HGNC	J3QQV3_HUMAN	.	UPI0000603C26	SNV	CEP112,synonymous_variant,p.%3D,ENST00000537949,;CEP112,synonymous_variant,p.%3D,ENST00000392769,;CEP112,synonymous_variant,p.%3D,ENST00000535342,;CEP112,synonymous_variant,p.%3D,ENST00000583358,;CEP112,5_prime_UTR_variant,,ENST00000541355,;	1272	57	57	SUCCESS
TXNDC17	84817	.	GRCh37	17	6546320	6546320	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	84	0	ENST00000250101.5:c.353T>G	p.Met118Arg	p.M118R	ENST00000250101	NM_032731.3	118	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS11077.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATGTTGT	NONE	.	.	hmmpanther:PTHR12452,Gene3D:3.40.30.10,Pfam_domain:PF06110,Superfamily_domains:SSF52833	.	.	ENSP00000250101	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000250101	Transcript	.	.	ENSG00000129235	28218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	TXD17_HUMAN	TXNDC17	HGNC	I3L0K2_HUMAN	.	UPI0000072BFD	SNV	TXNDC17,missense_variant,p.Met93Arg,ENST00000570330,;TXNDC17,missense_variant,p.Met118Arg,ENST00000250101,;TXNDC17,3_prime_UTR_variant,,ENST00000574838,;KIAA0753,upstream_gene_variant,,ENST00000571642,;KIAA0753,upstream_gene_variant,,ENST00000361413,;MED31,downstream_gene_variant,,ENST00000574128,;MED31,downstream_gene_variant,,ENST00000575197,;KIAA0753,upstream_gene_variant,,ENST00000572370,;MED31,downstream_gene_variant,,ENST00000225728,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000571029,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000577146,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000573792,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000576020,;TXNDC17,downstream_gene_variant,,ENST00000571957,;TXNDC17,3_prime_UTR_variant,,ENST00000574734,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000574429,;KIAA0753,upstream_gene_variant,,ENST00000570455,;	678	84	74	SUCCESS
TEKT1	83659	.	GRCh37	17	6718508	6718508	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	119	0	ENST00000338694.2:c.603T>A	p.Ser201=	p.S201=	ENST00000338694	NM_053285.1	201	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11083.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGAATA	NONE	.	.	hmmpanther:PTHR19960,Pfam_domain:PF03148	.	.	ENSP00000341346	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000338694	Transcript	.	.	ENSG00000167858	15534	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEKT1_HUMAN	TEKT1	HGNC	F5GZX2_HUMAN	.	UPI0000136BA9	SNV	TEKT1,synonymous_variant,p.%3D,ENST00000338694,;TEKT1,synonymous_variant,p.%3D,ENST00000535086,;TEKT1,upstream_gene_variant,,ENST00000572291,;TEKT1,upstream_gene_variant,,ENST00000571744,;TEKT1,3_prime_UTR_variant,,ENST00000575592,;TEKT1,non_coding_transcript_exon_variant,,ENST00000573966,;	733	119	90	SUCCESS
NEURL4	84461	.	GRCh37	17	7227004	7227004	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	92	0	ENST00000399464.2:c.2300A>T	p.Gln767Leu	p.Q767L	ENST00000399464	NM_032442.2	767	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42251.1	2300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGAATG	NONE	.	.	PROSITE_profiles:PS51065,hmmpanther:PTHR12429:SF2,hmmpanther:PTHR12429,Pfam_domain:PF07177,SMART_domains:SM00588	.	.	ENSP00000382390	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000399464	Transcript	.	.	ENSG00000215041	34410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	deleterious(0.01)	.	NEUL4_HUMAN	NEURL4	HGNC	.	.	UPI000020081C	SNV	NEURL4,missense_variant,p.Gln745Leu,ENST00000570460,;NEURL4,missense_variant,p.Gln730Leu,ENST00000571887,;NEURL4,missense_variant,p.Gln767Leu,ENST00000399464,;NEURL4,missense_variant,p.Gln767Leu,ENST00000315614,;NEURL4,upstream_gene_variant,,ENST00000574120,;NEURL4,missense_variant,p.Gln512Leu,ENST00000573186,;NEURL4,3_prime_UTR_variant,,ENST00000573651,;NEURL4,non_coding_transcript_exon_variant,,ENST00000576485,;RP11-542C16.2,upstream_gene_variant,,ENST00000315601,;NEURL4,upstream_gene_variant,,ENST00000571508,;NEURL4,downstream_gene_variant,,ENST00000576966,;NEURL4,downstream_gene_variant,,ENST00000571243,;NEURL4,upstream_gene_variant,,ENST00000572029,;RP11-542C16.2,upstream_gene_variant,,ENST00000575474,;	2316	92	80	SUCCESS
TNRC6C	57690	.	GRCh37	17	76047470	76047470	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	81	0	ENST00000301624.4:c.2327A>T	p.Glu776Val	p.E776V	ENST00000301624	NM_018996.3	776	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS45799.1	2327	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCGAGACGC	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	.	.	ENSP00000336783	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000335749	Transcript	.	.	ENSG00000078687	29318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.127)	.	tolerated(0.24)	.	.	TNRC6C	HGNC	K7ELY5_HUMAN,K7EKN9_HUMAN,G3XAB8_HUMAN	.	UPI0000EE5F80	SNV	TNRC6C,missense_variant,p.Glu776Val,ENST00000301624,;TNRC6C,missense_variant,p.Glu776Val,ENST00000544502,;TNRC6C,missense_variant,p.Glu776Val,ENST00000588061,;TNRC6C,missense_variant,p.Glu776Val,ENST00000588847,;TNRC6C,missense_variant,p.Glu776Val,ENST00000335749,;TNRC6C,missense_variant,p.Glu776Val,ENST00000541771,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000591851,;	2896	81	91	SUCCESS
CYTH1	9267	.	GRCh37	17	76677126	76677126	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	78	0	ENST00000361101.4:c.892-2A>T		p.X298_splice	ENST00000361101	NM_017456.2	298		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42392.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCTACAGA	NONE	.	.	.	.	.	ENSP00000354398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361101	Transcript	.	.	ENSG00000108669	9501	.	.	HIGH	10/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYH1_HUMAN	CYTH1	HGNC	K7ENH6_HUMAN,K7EKA2_HUMAN,B7Z1T4_HUMAN	.	UPI000000009A	SNV	CYTH1,splice_acceptor_variant,,ENST00000361101,;CYTH1,splice_acceptor_variant,,ENST00000589297,;CYTH1,splice_acceptor_variant,,ENST00000446868,;CYTH1,splice_acceptor_variant,,ENST00000591455,;CYTH1,splice_acceptor_variant,,ENST00000585509,;CYTH1,intron_variant,,ENST00000589296,;CYTH1,splice_acceptor_variant,,ENST00000586175,;CYTH1,intron_variant,,ENST00000590775,;CYTH1,splice_acceptor_variant,,ENST00000591574,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586430,;CYTH1,upstream_gene_variant,,ENST00000586299,;	.	78	120	SUCCESS
GUCY2D	3000	.	GRCh37	17	7912843	7912843	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	114	0	ENST00000254854.4:c.1688A>T	p.Lys563Met	p.K563M	ENST00000254854	NM_000180.3	563	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS11127.1	1688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAGAAAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF228,hmmpanther:PTHR11920,Superfamily_domains:SSF56112	.	.	ENSP00000254854	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000254854	Transcript	.	.	ENSG00000132518	4689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	GUC2D_HUMAN	GUCY2D	HGNC	.	.	UPI0000128C1C	SNV	GUCY2D,missense_variant,p.Lys563Met,ENST00000254854,;	1838	114	79	SUCCESS
ACTG1	71	.	GRCh37	17	79479165	79479165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	87	1	ENST00000331925.2:c.127G>T	p.Val43Phe	p.V43F	ENST00000331925	NM_001614.3	43	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS11782.1	127	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACGCCCT	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF187,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000458162	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000575842	Transcript	.	.	ENSG00000184009	144	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.077)	.	deleterious_low_confidence(0.04)	.	ACTG_HUMAN	ACTG1	HGNC	Q9UE89_HUMAN,Q96FU6_HUMAN,Q96DE1_HUMAN,Q6PJ43_HUMAN,Q562Z7_HUMAN,I3L3R2_HUMAN,I3L3I0_HUMAN,I3L1U9_HUMAN,B4E3A4_HUMAN,B3KWQ3_HUMAN,A5GZ75_HUMAN,A4UCT3_HUMAN,A1E282_HUMAN	.	UPI0000000C38	SNV	ACTG1,missense_variant,p.Val43Phe,ENST00000575994,;ACTG1,missense_variant,p.Val43Phe,ENST00000575842,;ACTG1,missense_variant,p.Val43Phe,ENST00000573283,;ACTG1,missense_variant,p.Val43Phe,ENST00000571721,;ACTG1,missense_variant,p.Val43Phe,ENST00000331925,;ACTG1,missense_variant,p.Val43Phe,ENST00000575087,;ACTG1,missense_variant,p.Val43Phe,ENST00000575659,;ACTG1,missense_variant,p.Val43Phe,ENST00000570382,;ACTG1,intron_variant,,ENST00000571691,;AC139149.1,upstream_gene_variant,,ENST00000584254,;RP13-766D20.2,upstream_gene_variant,,ENST00000430912,;ACTG1,missense_variant,p.Val43Phe,ENST00000572105,;ACTG1,missense_variant,p.Val43Phe,ENST00000576544,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576214,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576209,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576917,;ACTG1,upstream_gene_variant,,ENST00000574671,;RP13-766D20.1,upstream_gene_variant,,ENST00000448147,;	554	88	91	SUCCESS
ARHGDIA	396	.	GRCh37	17	79826836	79826836	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	73	0	ENST00000269321.7:c.531C>G	p.Ile177Met	p.I177M	ENST00000269321	NM_001185078.1	177	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS11788.1	531	RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGATGCT	NONE	.	.	hmmpanther:PTHR10980:SF9,hmmpanther:PTHR10980,Pfam_domain:PF02115,Gene3D:2.70.50.30,Superfamily_domains:SSF81296	.	.	ENSP00000269321	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000269321	Transcript	.	.	ENSG00000141522	678	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	GDIR1_HUMAN	ARHGDIA	HGNC	J3KS60_HUMAN	.	UPI0000110BD8	SNV	ARHGDIA,missense_variant,p.Ile177Met,ENST00000541078,;ARHGDIA,missense_variant,p.Ile177Met,ENST00000580685,;ARHGDIA,missense_variant,p.Ile102Met,ENST00000581876,;ARHGDIA,missense_variant,p.Ile177Met,ENST00000269321,;ARHGDIA,intron_variant,,ENST00000579121,;ARHGDIA,intron_variant,,ENST00000584461,;ARHGDIA,intron_variant,,ENST00000400721,;ARHGDIA,intron_variant,,ENST00000583868,;RP11-498C9.3,downstream_gene_variant,,ENST00000576021,;RP11-498C9.3,downstream_gene_variant,,ENST00000576554,;ARHGDIA,upstream_gene_variant,,ENST00000582520,;ARHGDIA,3_prime_UTR_variant,,ENST00000580033,;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000582984,;ARHGDIA,downstream_gene_variant,,ENST00000582309,;ARHGDIA,downstream_gene_variant,,ENST00000578351,;ARHGDIA,downstream_gene_variant,,ENST00000583499,;ARHGDIA,downstream_gene_variant,,ENST00000583791,;ARHGDIA,downstream_gene_variant,,ENST00000583111,;ARHGDIA,downstream_gene_variant,,ENST00000584397,;	667	73	80	SUCCESS
IMPACT	55364	.	GRCh37	18	22017984	22017984	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	99	480	0	ENST00000284202.4:c.347A>G	p.Lys116Arg	p.K116R	ENST00000284202	NM_018439.3	116	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11886.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAAATCTC	NONE	.	.	SMART_domains:SM00591,hmmpanther:PTHR16301,PROSITE_profiles:PS50908	.	.	ENSP00000284202	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000284202	Transcript	.	.	ENSG00000154059	20387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.13)	.	IMPCT_HUMAN	IMPACT	HGNC	J3KT25_HUMAN	.	UPI000007006B	SNV	IMPACT,missense_variant,p.Lys116Arg,ENST00000578221,;IMPACT,missense_variant,p.Lys116Arg,ENST00000284202,;IMPACT,missense_variant,p.Lys98Arg,ENST00000585067,;RP11-178F10.1,intron_variant,,ENST00000579049,;IMPACT,non_coding_transcript_exon_variant,,ENST00000580706,;	488	480	275	SUCCESS
MYOM1	8736	.	GRCh37	18	3067424	3067424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	131	0	ENST00000356443.4:c.4894A>T	p.Thr1632Ser	p.T1632S	ENST00000356443	NM_019856.1	1632	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS45824.1	4894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTGAAGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348821	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.05)	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Thr1632Ser,ENST00000356443,;MYOM1,missense_variant,p.Thr1632Ser,ENST00000400569,;MYOM1,missense_variant,p.Thr1536Ser,ENST00000261606,;MYOM1,non_coding_transcript_exon_variant,,ENST00000581804,;	5228	131	61	SUCCESS
MYOM1	8736	.	GRCh37	18	3086130	3086130	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	58	0	ENST00000356443.4:c.4157A>T	p.Glu1386Val	p.E1386V	ENST00000356443	NM_019856.1	1386	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS45824.1	4157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCTCCTTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348821	.	30/38	.	.	.	.	.	.	.	.	.	30/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.569)	.	deleterious(0.02)	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Glu1386Val,ENST00000356443,;MYOM1,missense_variant,p.Glu1386Val,ENST00000400569,;MYOM1,missense_variant,p.Glu1290Val,ENST00000261606,;MYOM1,missense_variant,p.Glu86Val,ENST00000581075,;	4491	58	48	SUCCESS
CCDC178	374864	.	GRCh37	18	30913332	30913332	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	49	0	ENST00000383096.3:c.685A>T	p.Ile229Leu	p.I229L	ENST00000383096		229	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS42424.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATAACAT	NONE	.	.	.	.	.	ENSP00000372576	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.17)	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Ile229Leu,ENST00000579947,;CCDC178,missense_variant,p.Ile229Leu,ENST00000406524,;CCDC178,missense_variant,p.Ile229Leu,ENST00000403303,;CCDC178,missense_variant,p.Ile229Leu,ENST00000383096,;CCDC178,missense_variant,p.Ile229Leu,ENST00000402325,;CCDC178,missense_variant,p.Ile229Leu,ENST00000300227,;CCDC178,missense_variant,p.Ile229Leu,ENST00000583930,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,missense_variant,p.Ile229Leu,ENST00000399177,;CCDC178,non_coding_transcript_exon_variant,,ENST00000577268,;	868	49	24	SUCCESS
CCDC178	374864	.	GRCh37	18	30926215	30926215	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	124	0	ENST00000383096.3:c.618A>T	p.Ser206=	p.S206=	ENST00000383096		206	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42424.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGACCA	NONE	.	.	.	.	.	ENSP00000372576	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,synonymous_variant,p.%3D,ENST00000579947,;CCDC178,synonymous_variant,p.%3D,ENST00000406524,;CCDC178,synonymous_variant,p.%3D,ENST00000403303,;CCDC178,synonymous_variant,p.%3D,ENST00000383096,;CCDC178,synonymous_variant,p.%3D,ENST00000402325,;CCDC178,synonymous_variant,p.%3D,ENST00000300227,;CCDC178,synonymous_variant,p.%3D,ENST00000583930,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,synonymous_variant,p.%3D,ENST00000399177,;CCDC178,upstream_gene_variant,,ENST00000577268,;	801	124	62	SUCCESS
NOL4	8715	.	GRCh37	18	31523123	31523123	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	64	0	ENST00000261592.5:c.1448A>T	p.His483Leu	p.H483L	ENST00000261592	NM_001198546.1	483	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS11907.2	1448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGTGGGAA	NONE	.	.	hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8	.	.	ENSP00000261592	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000261592	Transcript	.	.	ENSG00000101746	7870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	NOL4_HUMAN	NOL4	HGNC	.	.	UPI000059D504	SNV	NOL4,missense_variant,p.His483Leu,ENST00000261592,;NOL4,missense_variant,p.His409Leu,ENST00000538587,;NOL4,missense_variant,p.His198Leu,ENST00000535384,;NOL4,missense_variant,p.His264Leu,ENST00000535475,;NOL4,missense_variant,p.His168Leu,ENST00000586553,;NOL4,missense_variant,p.His403Leu,ENST00000590712,;NOL4,intron_variant,,ENST00000589544,;NOL4,intron_variant,,ENST00000269185,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	1746	64	30	SUCCESS
DLGAP1	9229	.	GRCh37	18	3880047	3880047	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756157301	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	22	0	ENST00000315677.3:c.22C>T	p.Arg8Cys	p.R8C	ENST00000315677	NM_004746.3	8	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11836.1	22	RADIA|MUTECT|MUSE	.	GCTGCGGCTGC	NONE	byFrequency	.	hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353	.	.	ENSP00000316377	.	4/13	.	.	.	.	.	.	.	.	rs756157301	4/13	PASS	ENST00000315677	Transcript	.	.	ENSG00000170579	2905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	DLGP1_HUMAN	DLGAP1	HGNC	.	.	UPI0000129490	SNV	DLGAP1,missense_variant,p.Arg8Cys,ENST00000581527,;DLGAP1,missense_variant,p.Arg8Cys,ENST00000315677,;DLGAP1,missense_variant,p.Arg8Cys,ENST00000584874,;DLGAP1,missense_variant,p.Arg8Cys,ENST00000515196,;DLGAP1-AS3,intron_variant,,ENST00000577649,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;	618	22	11	SUCCESS
LOXHD1	125336	.	GRCh37	18	44068976	44068976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	66	0	ENST00000300591.6:c.2675C>A	p.Ala892Asp	p.A892D	ENST00000300591	NM_001145472.2	892	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS45861.1	2675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGCAAAG	NONE	.	.	PROSITE_profiles:PS50095,SMART_domains:SM00308	.	.	ENSP00000300591	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.04)	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,missense_variant,p.Ala830Asp,ENST00000582408,;LOXHD1,missense_variant,p.Ala892Asp,ENST00000300591,;LOXHD1,missense_variant,p.Ala1797Asp,ENST00000441551,;LOXHD1,missense_variant,p.Ala242Asp,ENST00000398705,;LOXHD1,missense_variant,p.Ala874Asp,ENST00000441893,;LOXHD1,missense_variant,p.Ala796Asp,ENST00000579038,;LOXHD1,missense_variant,p.Ala1941Asp,ENST00000536736,;LOXHD1,missense_variant,p.Ala1725Asp,ENST00000398722,;LOXHD1,missense_variant,p.Ala242Asp,ENST00000398686,;	3089	66	45	SUCCESS
EPB41L3	23136	.	GRCh37	18	5423442	5423442	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1350949619	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	155	0	ENST00000341928.2:c.1274G>A	p.Arg425His	p.R425H	ENST00000341928	NM_012307.3	425	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11838.1	1274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGATCT	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF08736,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729	.	.	ENSP00000343158	.	11/23	.	.	.	.	.	.	.	.	COSM1251248	11/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Arg425His,ENST00000342933,;EPB41L3,missense_variant,p.Arg425His,ENST00000341928,;EPB41L3,missense_variant,p.Arg82His,ENST00000584670,;EPB41L3,missense_variant,p.Arg425His,ENST00000400111,;EPB41L3,missense_variant,p.Arg425His,ENST00000544123,;EPB41L3,missense_variant,p.Arg425His,ENST00000540638,;EPB41L3,upstream_gene_variant,,ENST00000427684,;EPB41L3,upstream_gene_variant,,ENST00000542146,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581661,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,upstream_gene_variant,,ENST00000578524,;EPB41L3,upstream_gene_variant,,ENST00000578196,;EPB41L3,upstream_gene_variant,,ENST00000580316,;EPB41L3,upstream_gene_variant,,ENST00000581292,;EPB41L3,upstream_gene_variant,,ENST00000581387,;EPB41L3,upstream_gene_variant,,ENST00000578395,;EPB41L3,upstream_gene_variant,,ENST00000580647,;EPB41L3,upstream_gene_variant,,ENST00000579271,;	1615	155	110	SUCCESS
NEDD4L	23327	.	GRCh37	18	55711714	55711714	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	21	0	ENST00000400345.3:c.-179G>C		p.*60*	ENST00000400345	NM_001144967.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45872.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGCGTCC	NONE	.	.	.	.	.	ENSP00000383199	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,5_prime_UTR_variant,,ENST00000256832,;NEDD4L,5_prime_UTR_variant,,ENST00000356462,;NEDD4L,5_prime_UTR_variant,,ENST00000589054,;NEDD4L,5_prime_UTR_variant,,ENST00000400345,;NEDD4L,upstream_gene_variant,,ENST00000592846,;NEDD4L,upstream_gene_variant,,ENST00000256830,;NEDD4L,upstream_gene_variant,,ENST00000382850,;NEDD4L,upstream_gene_variant,,ENST00000456986,;NEDD4L,upstream_gene_variant,,ENST00000590694,;NEDD4L,upstream_gene_variant,,ENST00000591579,;NEDD4L,upstream_gene_variant,,ENST00000591989,;NEDD4L,upstream_gene_variant,,ENST00000588516,;NEDD4L,upstream_gene_variant,,ENST00000585363,;	105	21	15	SUCCESS
TMEM200C	645369	.	GRCh37	18	5890639	5890639	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	13	0	ENST00000383490.2:c.1424T>A	p.Leu475His	p.L475H	ENST00000383490	NM_001080209.1	475	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS45825.1	1424	MUTECT|MUSE	.	CCGGGAGCCCG	NONE	.	.	hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2	.	.	ENSP00000463375	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000581347	Transcript	.	.	ENSG00000206432	37208	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	T200C_HUMAN	TMEM200C	HGNC	.	.	UPI000020198E	SNV	TMEM200C,missense_variant,p.Leu475His,ENST00000383490,;TMEM200C,missense_variant,p.Leu475His,ENST00000581347,;RP11-945C19.4,intron_variant,,ENST00000577694,;RP11-945C19.4,downstream_gene_variant,,ENST00000580845,;RP11-945C19.4,downstream_gene_variant,,ENST00000582939,;	2070	13	11	SUCCESS
ANKRD12	23253	.	GRCh37	18	9258388	9258388	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	103	0	ENST00000262126.4:c.5123A>T	p.His1708Leu	p.H1708L	ENST00000262126	NM_015208.4	1708	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS11843.1	5123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCATAAAT	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious_low_confidence(0.03)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.His1708Leu,ENST00000262126,;ANKRD12,missense_variant,p.His1685Leu,ENST00000383440,;ANKRD12,missense_variant,p.His1685Leu,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000359158,;	5363	103	55	SUCCESS
TNPO2	30000	.	GRCh37	19	12821577	12821577	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	61	0	ENST00000425528.1:c.1128A>T	p.Ser376=	p.S376=	ENST00000425528		376	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45991.1	1128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCTGAGCA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF17,hmmpanther:PTHR10527	.	.	ENSP00000407182	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000425528	Transcript	.	.	ENSG00000105576	19998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNPO2_HUMAN	TNPO2	HGNC	K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN	.	UPI000013F0EA	SNV	TNPO2,synonymous_variant,p.%3D,ENST00000356861,;TNPO2,synonymous_variant,p.%3D,ENST00000592287,;TNPO2,synonymous_variant,p.%3D,ENST00000441499,;TNPO2,synonymous_variant,p.%3D,ENST00000425528,;TNPO2,synonymous_variant,p.%3D,ENST00000450764,;TNPO2,synonymous_variant,p.%3D,ENST00000588216,;SNORD41,upstream_gene_variant,,ENST00000386967,;TNPO2,non_coding_transcript_exon_variant,,ENST00000589956,;TNPO2,synonymous_variant,p.%3D,ENST00000585886,;TNPO2,downstream_gene_variant,,ENST00000586775,;TNPO2,upstream_gene_variant,,ENST00000589572,;TNPO2,upstream_gene_variant,,ENST00000588491,;TNPO2,downstream_gene_variant,,ENST00000588484,;TNPO2,downstream_gene_variant,,ENST00000587654,;TNPO2,downstream_gene_variant,,ENST00000588151,;	1486	61	75	SUCCESS
NDUFB7	4713	.	GRCh37	19	14677729	14677729	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747768995	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	28	0	ENST00000215565.2:c.129G>T	p.Gln43His	p.Q43H	ENST00000215565	NM_004146.5	43	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS12314.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCTGTGT	NONE	.	.	hmmpanther:PTHR20900,hmmpanther:PTHR20900:SF0,Pfam_domain:PF05676	.	.	ENSP00000215565	.	2/3	.	.	.	.	.	.	.	.	rs747768995	2/3	PASS	ENST00000215565	Transcript	.	.	ENSG00000099795	7702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.06)	.	NDUB7_HUMAN	NDUFB7	HGNC	.	.	UPI000013C68C	SNV	NDUFB7,missense_variant,p.Gln43His,ENST00000215565,;TECR,downstream_gene_variant,,ENST00000596073,;TECR,downstream_gene_variant,,ENST00000594545,;TECR,downstream_gene_variant,,ENST00000601187,;TECR,downstream_gene_variant,,ENST00000436007,;TECR,downstream_gene_variant,,ENST00000598715,;TECR,downstream_gene_variant,,ENST00000600083,;TECR,downstream_gene_variant,,ENST00000215567,;TECR,downstream_gene_variant,,ENST00000598298,;TECR,downstream_gene_variant,,ENST00000596164,;NDUFB7,missense_variant,p.Ala43Ser,ENST00000593353,;TECR,downstream_gene_variant,,ENST00000601461,;TECR,downstream_gene_variant,,ENST00000598918,;TECR,downstream_gene_variant,,ENST00000594958,;TECR,downstream_gene_variant,,ENST00000598408,;TECR,downstream_gene_variant,,ENST00000600076,;TECR,downstream_gene_variant,,ENST00000600395,;TECR,downstream_gene_variant,,ENST00000599101,;TECR,downstream_gene_variant,,ENST00000593637,;TECR,downstream_gene_variant,,ENST00000601350,;TECR,downstream_gene_variant,,ENST00000598333,;TECR,downstream_gene_variant,,ENST00000593775,;TECR,downstream_gene_variant,,ENST00000597607,;TECR,downstream_gene_variant,,ENST00000596953,;TECR,downstream_gene_variant,,ENST00000601652,;TECR,downstream_gene_variant,,ENST00000598987,;TECR,downstream_gene_variant,,ENST00000594807,;	191	28	26	SUCCESS
OR7A17	26333	.	GRCh37	19	14991448	14991448	+	synonymous_variant	Silent	SNP	G	G	T	rs758846647	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	105	0	ENST00000327462.2:c.720C>A	p.Thr240=	p.T240=	ENST00000327462	NM_030901.1	240	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12319.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGGTGGA	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF263,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000328144	.	1/1	.	.	.	.	.	.	.	.	rs758846647	1/1	PASS	ENST00000327462	Transcript	.	.	ENSG00000185385	8363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR7AH_HUMAN	OR7A17	HGNC	Q9UEB1_HUMAN	.	UPI0000041DF9	SNV	OR7A17,synonymous_variant,p.%3D,ENST00000327462,;	817	105	80	SUCCESS
MYO9B	4650	.	GRCh37	19	17256246	17256246	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	109	0	ENST00000594824.1:c.880A>T	p.Ser294Cys	p.S294C	ENST00000594824		294	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46010.1	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGCCGG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000471457	.	3/40	.	.	.	.	.	.	.	.	.	3/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Ser294Cys,ENST00000595641,;MYO9B,missense_variant,p.Ser294Cys,ENST00000397274,;MYO9B,missense_variant,p.Ser294Cys,ENST00000595618,;MYO9B,missense_variant,p.Ser294Cys,ENST00000594824,;	1032	109	95	SUCCESS
RPL18A	6142	.	GRCh37	19	17973829	17973829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	89	0	ENST00000222247.5:c.431A>T	p.Gln144Leu	p.Q144L	ENST00000222247	NM_000980.3	144	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12367.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCAGTTCC	NONE	.	.	hmmpanther:PTHR10052:SF6,hmmpanther:PTHR10052,Gene3D:3.10.20.10,PIRSF_domain:PIRSF002190,Superfamily_domains:0054246	.	.	ENSP00000222247	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000222247	Transcript	.	.	ENSG00000105640	10311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	RL18A_HUMAN	RPL18A	HGNC	Q76N54_HUMAN,M0R3D6_HUMAN,M0R1A7_HUMAN,B4DUV3_HUMAN	.	UPI0000133CD9	SNV	RPL18A,missense_variant,p.Gln115Leu,ENST00000597648,;RPL18A,missense_variant,p.Gln115Leu,ENST00000599870,;RPL18A,missense_variant,p.Gln105Leu,ENST00000599898,;RPL18A,missense_variant,p.Gln144Leu,ENST00000222247,;RPL18A,intron_variant,,ENST00000600147,;SNORA68,downstream_gene_variant,,ENST00000384437,;RPL18A,downstream_gene_variant,,ENST00000600238,;RPL18A,downstream_gene_variant,,ENST00000602216,;	512	89	93	SUCCESS
SLC5A5	6528	.	GRCh37	19	17988625	17988625	+	synonymous_variant	Silent	SNP	G	G	T	rs148887708	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	69	1	ENST00000222248.3:c.792G>T	p.Ala264=	p.A264=	ENST00000222248	NM_000453.2	264	gcG/gcT	0	T:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS12368.1	792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGCAGGT	NONE	byCluster	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF18,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	T:0.0003	ENSP00000222248	.	6/15	.	.	.	.	.	.	.	.	rs148887708,COSM992943	6/15	PASS	ENST00000222248	Transcript	1	.	ENSG00000105641	11040	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SC5A5_HUMAN	SLC5A5	HGNC	Q9UEU3_HUMAN	.	UPI00001359F6	SNV	SLC5A5,synonymous_variant,p.%3D,ENST00000222248,;SLC5A5,upstream_gene_variant,,ENST00000597109,;	1139	70	82	SUCCESS
COMP	1311	.	GRCh37	19	18899478	18899478	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	50	0	ENST00000222271.2:c.685T>A	p.Cys229Ser	p.C229S	ENST00000222271	NM_000095.2	229	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12385.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCAGAAGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF81,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000222271	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000222271	Transcript	1	.	ENSG00000105664	2227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	deleterious(0.01)	.	COMP_HUMAN	COMP	HGNC	G3XAP6_HUMAN	.	UPI000013C7F6	SNV	COMP,missense_variant,p.Cys196Ser,ENST00000542601,;COMP,missense_variant,p.Cys176Ser,ENST00000425807,;COMP,missense_variant,p.Cys229Ser,ENST00000222271,;COMP,upstream_gene_variant,,ENST00000546510,;	730	50	37	SUCCESS
ZNF208	7757	.	GRCh37	19	22156559	22156559	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	86	0	ENST00000397126.4:c.1277A>T	p.Lys426Ile	p.K426I	ENST00000397126	NM_007153.3	426	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS54240.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATTTGTAG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.481)	.	deleterious(0.03)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Lys426Ile,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	1426	86	71	SUCCESS
ZNF98	148198	.	GRCh37	19	22574901	22574901	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	23	186	0	ENST00000357774.5:c.1136A>T	p.Lys379Met	p.K379M	ENST00000357774	NM_001098626.1	379	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS46031.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	CACACTTGTAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,missense_variant,p.Lys379Met,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	1258	186	134	SUCCESS
ZFR2	23217	.	GRCh37	19	3823272	3823272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	60	0	ENST00000262961.4:c.1343A>T	p.Gln448Leu	p.Q448L	ENST00000262961	NM_015174.1	448	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45921.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCTGCGCA	NONE	.	.	hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85,Superfamily_domains:SSF57667	.	.	ENSP00000262961	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0)	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,missense_variant,p.Gln448Leu,ENST00000262961,;ZFR2,3_prime_UTR_variant,,ENST00000438164,;	1354	60	38	SUCCESS
RYR1	6261	.	GRCh37	19	38964354	38964354	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs185821937	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	66	264	0	ENST00000359596.3:c.4103A>T	p.Gln1368Leu	p.Q1368L	ENST00000359596		1368	cAg/cTg	0	.	C:0	.	C:0	.	T	Q/L	protein_coding	YES	CCDS33011.1	4103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCAGCCCG	NONE	by1000G	.	PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	C:0	.	ENSP00000352608	C:0.001	28/106	.	.	.	.	.	.	.	.	rs185821937	28/106	PASS	ENST00000359596	Transcript	1	C:0.0002	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	C:0	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gln1368Leu,ENST00000355481,;RYR1,missense_variant,p.Gln1368Leu,ENST00000360985,;RYR1,missense_variant,p.Gln1368Leu,ENST00000359596,;	4103	264	232	SUCCESS
CEACAM5	1048	.	GRCh37	19	42223902	42223902	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	101	0	ENST00000221992.6:c.1546A>T	p.Lys516Ter	p.K516*	ENST00000221992	NM_004363.2	516	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS12584.1	1546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAAGGAT	NONE	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000221992	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000221992	Transcript	.	.	ENSG00000105388	1817	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM5_HUMAN	CEACAM5	HGNC	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI000013C7E5	SNV	CEACAM5,stop_gained,p.Lys515Ter,ENST00000398599,;CEACAM5,stop_gained,p.Lys516Ter,ENST00000221992,;CEACAM5,stop_gained,p.Lys127Ter,ENST00000595403,;CEACAM5,stop_gained,p.Lys516Ter,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000596606,;	1660	101	68	SUCCESS
CEACAM3	1084	.	GRCh37	19	42312947	42312947	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	101	0	ENST00000357396.3:c.521T>A	p.Leu174Gln	p.L174Q	ENST00000357396	NM_001815.3	174	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12586.2	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTGCTCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000349971	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0.02)	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,missense_variant,p.Leu174Gln,ENST00000357396,;CEACAM3,missense_variant,p.Leu174Gln,ENST00000344550,;CEACAM3,missense_variant,p.Leu174Gln,ENST00000221999,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599662,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,3_prime_UTR_variant,,ENST00000415495,;	762	101	76	SUCCESS
CEACAM1	634	.	GRCh37	19	43026217	43026217	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	101	0	ENST00000161559.6:c.562A>T	p.Ser188Cys	p.S188C	ENST00000161559	NM_001712.4	188	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS12609.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACTGACCG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR19955:SF118,hmmpanther:PTHR19955,PROSITE_profiles:PS50835	.	.	ENSP00000161559	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000161559	Transcript	.	.	ENSG00000079385	1814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CEAM1_HUMAN	CEACAM1	HGNC	M0R2K4_HUMAN,M0R109_HUMAN	.	UPI0000127483	SNV	CEACAM1,missense_variant,p.Ser188Cys,ENST00000161559,;CEACAM1,missense_variant,p.Ser188Cys,ENST00000403444,;CEACAM1,missense_variant,p.Ser188Cys,ENST00000599389,;CEACAM1,missense_variant,p.Ser188Cys,ENST00000403461,;CEACAM1,missense_variant,p.Ser148Cys,ENST00000308072,;CEACAM1,missense_variant,p.Ser188Cys,ENST00000352591,;CEACAM1,missense_variant,p.Ser188Cys,ENST00000358394,;CEACAM1,intron_variant,,ENST00000351134,;CEACAM1,downstream_gene_variant,,ENST00000600172,;CEACAM1,downstream_gene_variant,,ENST00000471298,;LIPE-AS1,non_coding_transcript_exon_variant,,ENST00000457234,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000377806,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000403136,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000344391,;CEACAM1,upstream_gene_variant,,ENST00000485605,;	697	101	81	SUCCESS
PSG6	5675	.	GRCh37	19	43414973	43414973	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1058674	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	92	0	ENST00000292125.2:c.465A>T	p.Leu155Phe	p.L155F	ENST00000292125	NM_002782.4	155	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS12613.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTTAAGTT	NONE	suspect|byCluster|byHapMap	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955,PROSITE_profiles:PS50835	.	.	ENSP00000292125	.	3/6	.	.	.	.	.	.	.	.	rs1058674	3/6	PASS	ENST00000292125	Transcript	.	.	ENSG00000170848	9523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.182)	.	tolerated(0.18)	.	PSG6_HUMAN	PSG6	HGNC	.	.	UPI00001327A1	SNV	PSG6,missense_variant,p.Leu155Phe,ENST00000187910,;PSG6,missense_variant,p.Leu155Phe,ENST00000402603,;PSG6,missense_variant,p.Leu34Phe,ENST00000594375,;PSG6,missense_variant,p.Leu155Phe,ENST00000292125,;PSG6,downstream_gene_variant,,ENST00000601833,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000484292,;PSG6,upstream_gene_variant,,ENST00000599753,;	510	92	57	SUCCESS
PSG2	5670	.	GRCh37	19	43576010	43576010	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1362039130	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	36	125	0	ENST00000406487.1:c.806C>T	p.Ala269Val	p.A269V	ENST00000406487	NM_031246.3	269	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS12616.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTGCCGGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF109,PROSITE_profiles:PS50835	.	.	ENSP00000385706	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000406487	Transcript	.	.	ENSG00000242221	9519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.03)	.	PSG2_HUMAN	PSG2	HGNC	.	.	UPI000013CCF5	SNV	PSG2,missense_variant,p.Ala51Val,ENST00000329509,;PSG2,missense_variant,p.Ala269Val,ENST00000406487,;PSG2,non_coding_transcript_exon_variant,,ENST00000593482,;	905	125	123	SUCCESS
ZNF226	7769	.	GRCh37	19	44677254	44677254	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	69	0	ENST00000337433.5:c.235+149C>A		p.*79*	ENST00000337433	NM_001032373.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46102.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCCTCTC	NONE	.	.	.	.	.	ENSP00000465121	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,3_prime_UTR_variant,,ENST00000589160,;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,3_prime_UTR_variant,,ENST00000588795,;ZNF226,intron_variant,,ENST00000585678,;ZNF226,intron_variant,,ENST00000590089,;ZNF226,intron_variant,,ENST00000588127,;ZNF226,intron_variant,,ENST00000413984,;ZNF226,intron_variant,,ENST00000588742,;ZNF226,intron_variant,,ENST00000300823,;ZNF226,intron_variant,,ENST00000337433,;ZNF226,intron_variant,,ENST00000590524,;ZNF226,intron_variant,,ENST00000586914,;ZNF226,intron_variant,,ENST00000454662,;ZNF226,intron_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000586203,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000590759,;	.	69	53	SUCCESS
MARK4	57787	.	GRCh37	19	45790824	45790824	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	84	332	0	ENST00000262891.4:c.1396A>T	p.Ser466Cys	p.S466C	ENST00000262891	NM_001199867.1	466	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS56097.1	1396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGAGTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24346:SF22,hmmpanther:PTHR24346	.	.	ENSP00000262891	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000262891	Transcript	.	.	ENSG00000007047	13538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	MARK4_HUMAN	MARK4	HGNC	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN	.	UPI0000044D47	SNV	MARK4,missense_variant,p.Ser466Cys,ENST00000262891,;MARK4,missense_variant,p.Ser466Cys,ENST00000300843,;MARK4,3_prime_UTR_variant,,ENST00000592207,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000590897,;	1727	332	276	SUCCESS
IGFL3	388555	.	GRCh37	19	46627523	46627523	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	74	0	ENST00000341415.2:c.79+2T>A		p.X27_splice	ENST00000341415	NM_207393.1	27		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33058.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTACCTGT	NONE	.	.	.	.	.	ENSP00000344860	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341415	Transcript	.	.	ENSG00000188624	32930	.	.	HIGH	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFL3_HUMAN	IGFL3	HGNC	.	.	UPI000003597A	SNV	IGFL3,splice_donor_variant,,ENST00000341415,;AC007193.6,intron_variant,,ENST00000597989,;	.	75	83	SUCCESS
CCDC9	26093	.	GRCh37	19	47761595	47761595	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	79	0	ENST00000221922.6:c.-63A>T		p.*21*	ENST00000221922	NM_015603.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12698.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCAGTGCT	NONE	.	.	.	.	.	ENSP00000221922	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000221922	Transcript	.	.	ENSG00000105321	24560	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCDC9_HUMAN	CCDC9	HGNC	M0R2W0_HUMAN,M0QZR0_HUMAN,M0QYB4_HUMAN	.	UPI0000073E41	SNV	CCDC9,5_prime_UTR_variant,,ENST00000595659,;CCDC9,5_prime_UTR_variant,,ENST00000596938,;CCDC9,5_prime_UTR_variant,,ENST00000599398,;CCDC9,5_prime_UTR_variant,,ENST00000221922,;CCDC9,downstream_gene_variant,,ENST00000601154,;	160	79	53	SUCCESS
GLTSCR1	0	.	GRCh37	19	48182982	48182982	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	59	0	ENST00000396720.3:c.555G>T	p.Gln185His	p.Q185H	ENST00000396720	NM_015711.3	185	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS46134.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGACGT	NONE	.	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572	.	.	ENSP00000379946	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,missense_variant,p.Gln185His,ENST00000396720,;GLTSCR1,downstream_gene_variant,,ENST00000594866,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	749	59	44	SUCCESS
GLTSCR1	0	.	GRCh37	19	48182983	48182983	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	59	0	ENST00000396720.3:c.556G>T	p.Asp186Tyr	p.D186Y	ENST00000396720	NM_015711.3	186	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS46134.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGACGTG	NONE	.	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572	.	.	ENSP00000379946	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,missense_variant,p.Asp186Tyr,ENST00000396720,;GLTSCR1,downstream_gene_variant,,ENST00000594866,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	750	59	43	SUCCESS
SCAF1	58506	.	GRCh37	19	50156008	50156008	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	108	0	ENST00000360565.3:c.2362A>T	p.Arg788Trp	p.R788W	ENST00000360565	NM_021228.2	788	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33074.1	2362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACAGGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2	.	.	ENSP00000353769	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000360565	Transcript	.	.	ENSG00000126461	30403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SFR19_HUMAN	SCAF1	HGNC	M0R3G4_HUMAN,M0R2L3_HUMAN	.	UPI0000071891	SNV	SCAF1,missense_variant,p.Arg788Trp,ENST00000360565,;SCAF1,downstream_gene_variant,,ENST00000598359,;	2486	108	104	SUCCESS
SIGLEC11	114132	.	GRCh37	19	50453402	50453402	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	63	0	ENST00000447370.2:c.1922A>T	p.Glu641Val	p.E641V	ENST00000447370	NM_052884.2	641	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS12790.2	1922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTCCTGC	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44	.	.	ENSP00000412361	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000447370	Transcript	.	.	ENSG00000161640	15622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	deleterious(0)	.	SIG11_HUMAN	SIGLEC11	HGNC	H7BZU6_HUMAN	.	UPI00018131F5	SNV	SIGLEC11,missense_variant,p.Glu545Val,ENST00000426971,;SIGLEC11,missense_variant,p.Glu641Val,ENST00000447370,;U3,upstream_gene_variant,,ENST00000408198,;SIGLEC11,3_prime_UTR_variant,,ENST00000426296,;CTC-326K19.6,intron_variant,,ENST00000451973,;	2013	63	59	SUCCESS
IZUMO2	126123	.	GRCh37	19	50662761	50662761	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	57	199	0	ENST00000293405.3:c.384T>A	p.Tyr128Ter	p.Y128*	ENST00000293405	NM_152358.2	128	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS12792.2	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCATATGA	NONE	.	.	hmmpanther:PTHR26374,Pfam_domain:PF15005	.	.	ENSP00000293405	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000293405	Transcript	.	.	ENSG00000161652	28518	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IZUM2_HUMAN	IZUMO2	HGNC	.	.	UPI00001D6939	SNV	IZUMO2,stop_gained,p.Tyr116Ter,ENST00000600293,;IZUMO2,stop_gained,p.Tyr128Ter,ENST00000293405,;IZUMO2,3_prime_UTR_variant,,ENST00000486050,;IZUMO2,downstream_gene_variant,,ENST00000594854,;	385	199	179	SUCCESS
KLK15	55554	.	GRCh37	19	51330915	51330915	+	splice_donor_region_variant,intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	45	0	ENST00000598239.1:c.197+3A>G		p.*66*	ENST00000598239	NM_001277081.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12805.1	.	RADIA|MUSE	.	CTTCATACCGG	NONE	.	.	.	.	.	ENSP00000469315	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000598239	Transcript	.	.	ENSG00000174562	20453	.	.	LOW	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK15_HUMAN	KLK15	HGNC	S5TEP0_HUMAN,M0R2F7_HUMAN	.	UPI000004CA04	SNV	KLK15,splice_region_variant,,ENST00000326856,;KLK15,splice_region_variant,,ENST00000598673,;KLK15,splice_region_variant,,ENST00000598239,;KLK15,splice_region_variant,,ENST00000301421,;KLK15,splice_region_variant,,ENST00000596931,;KLK15,splice_region_variant,,ENST00000416184,;KLK1,upstream_gene_variant,,ENST00000301420,;KLK1,upstream_gene_variant,,ENST00000448701,;AC011523.2,upstream_gene_variant,,ENST00000598079,;KLK15,splice_region_variant,,ENST00000601680,;KLK15,splice_region_variant,,ENST00000602114,;KLK15,upstream_gene_variant,,ENST00000596531,;KLK1,upstream_gene_variant,,ENST00000593859,;KLK1,upstream_gene_variant,,ENST00000593325,;	.	45	51	SUCCESS
KLK10	5655	.	GRCh37	19	51520376	51520376	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	115	0	ENST00000309958.3:c.259T>A	p.Cys87Ser	p.C87S	ENST00000309958	NM_002776.4	87	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12817.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCAGTGCG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF36,PROSITE_patterns:PS00134,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000311746	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000309958	Transcript	.	.	ENSG00000129451	6358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KLK10_HUMAN	KLK10	HGNC	M0R132_HUMAN	.	UPI000013CCB0	SNV	KLK10,missense_variant,p.Cys87Ser,ENST00000391805,;KLK10,missense_variant,p.Cys87Ser,ENST00000599077,;KLK10,missense_variant,p.Cys87Ser,ENST00000309958,;KLK10,missense_variant,p.Cys87Ser,ENST00000358789,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;KLK10,5_prime_UTR_variant,,ENST00000601467,;KLK10,non_coding_transcript_exon_variant,,ENST00000599987,;	478	115	129	SUCCESS
ZNF615	284370	.	GRCh37	19	52497458	52497458	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	64	0	ENST00000376716.5:c.871A>T	p.Ser291Cys	p.S291C	ENST00000376716	NM_198480.3	291	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS59418.1	904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTACATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF167,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471549	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000594083	Transcript	.	.	ENSG00000197619	24740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	tolerated(0.06)	.	ZN615_HUMAN	ZNF615	HGNC	.	.	UPI000022A99B	SNV	ZNF615,missense_variant,p.Ser296Cys,ENST00000391795,;ZNF615,missense_variant,p.Ser291Cys,ENST00000376716,;ZNF615,missense_variant,p.Ser291Cys,ENST00000602063,;ZNF615,missense_variant,p.Ser302Cys,ENST00000594083,;ZNF615,missense_variant,p.Ser302Cys,ENST00000598071,;ZNF615,downstream_gene_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000601178,;ZNF615,3_prime_UTR_variant,,ENST00000599177,;ZNF615,downstream_gene_variant,,ENST00000599115,;	1149	64	48	SUCCESS
ZNF415	55786	.	GRCh37	19	53611940	53611940	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs763469293,rs764836521	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	87	0	ENST00000500065.4:c.1358C>A	p.Ser453Ter	p.S453*	ENST00000500065	NM_001136038.2	453	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS54313.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCGAATGC	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	rs763469293,rs764836521	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,stop_gained,p.Ser440Ter,ENST00000440291,;ZNF415,stop_gained,p.Ser501Ter,ENST00000455735,;ZNF415,stop_gained,p.Ser501Ter,ENST00000448501,;ZNF415,stop_gained,p.Ser223Ter,ENST00000601493,;ZNF415,stop_gained,p.Ser453Ter,ENST00000500065,;ZNF415,stop_gained,p.Ser453Ter,ENST00000243643,;ZNF415,stop_gained,p.Ser465Ter,ENST00000421033,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	1692	87	94	SUCCESS
ZNF665	79788	.	GRCh37	19	53668306	53668306	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	73	0	ENST00000600412.1:c.1242T>A	p.Ile414=	p.I414=	ENST00000600412		414	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS46169.1	1437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGAATTCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396424	Transcript	.	.	ENSG00000197497	25885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,synonymous_variant,p.%3D,ENST00000396424,;ZNF665,synonymous_variant,p.%3D,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	1527	73	57	SUCCESS
PRKCG	5582	.	GRCh37	19	54401692	54401692	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	43	150	0	ENST00000263431.3:c.1093-2A>T		p.X365_splice	ENST00000263431	NM_002739.3	365		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCATAGGTGA	NONE	.	.	.	.	.	ENSP00000263431	.	.	.	.	.	.	.	.	.	.	COSM4081130,COSM4081131	.	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	HIGH	10/17	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,splice_acceptor_variant,,ENST00000542049,;PRKCG,splice_acceptor_variant,,ENST00000540413,;PRKCG,splice_acceptor_variant,,ENST00000536044,;PRKCG,splice_acceptor_variant,,ENST00000263431,;	.	150	141	SUCCESS
NLRP2	55655	.	GRCh37	19	55512159	55512159	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	83	0	ENST00000448584.2:c.3082A>T	p.Asn1028Tyr	p.N1028Y	ENST00000448584	NM_001174083.1	1028	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS12913.1	3082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAATAAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000445135	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Asn1006Tyr,ENST00000537859,;NLRP2,missense_variant,p.Asn1025Tyr,ENST00000263437,;NLRP2,missense_variant,p.Asn1004Tyr,ENST00000391721,;NLRP2,missense_variant,p.Asn1006Tyr,ENST00000339757,;NLRP2,missense_variant,p.Asn1028Tyr,ENST00000543010,;NLRP2,missense_variant,p.Asn1004Tyr,ENST00000538819,;NLRP2,missense_variant,p.Asn1005Tyr,ENST00000427260,;NLRP2,missense_variant,p.Asn1028Tyr,ENST00000448584,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,non_coding_transcript_exon_variant,,ENST00000542755,;	3225	83	83	SUCCESS
TNNT1	7138	.	GRCh37	19	55658291	55658291	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	74	130	0	ENST00000588981.1:c.46+85C>G		p.*16*	ENST00000588981	NM_003283.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12917.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGCCAAA	NONE	.	.	.	.	.	ENSP00000467176	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000588981	Transcript	1	.	ENSG00000105048	11948	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNNT1_HUMAN	TNNT1	HGNC	Q56R94_HUMAN,M0QZU8_HUMAN	.	UPI000016A37B	SNV	TNNT1,5_prime_UTR_variant,,ENST00000585321,;TNNT1,5_prime_UTR_variant,,ENST00000587465,;TNNT1,intron_variant,,ENST00000536926,;TNNT1,intron_variant,,ENST00000589226,;TNNT1,intron_variant,,ENST00000588981,;TNNT1,intron_variant,,ENST00000588426,;TNNT1,intron_variant,,ENST00000356783,;TNNT1,intron_variant,,ENST00000593046,;TNNT1,intron_variant,,ENST00000588147,;TNNT1,intron_variant,,ENST00000291901,;TNNT1,intron_variant,,ENST00000587758,;TNNI3,downstream_gene_variant,,ENST00000588882,;TNNI3,downstream_gene_variant,,ENST00000344887,;TNNT1,intron_variant,,ENST00000592920,;TNNT1,intron_variant,,ENST00000586282,;TNNI3,downstream_gene_variant,,ENST00000585806,;TNNI3,downstream_gene_variant,,ENST00000589864,;TNNT1,upstream_gene_variant,,ENST00000587089,;	.	130	126	SUCCESS
ZIM3	114026	.	GRCh37	19	57654034	57654034	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	142	0	ENST00000269834.1:c.-23T>A		p.*8*	ENST00000269834	NM_052882.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33125.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTAAAGTC	NONE	.	.	.	.	.	ENSP00000269834	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000269834	Transcript	.	.	ENSG00000141946	16366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZIM3_HUMAN	ZIM3	HGNC	.	.	UPI000013C3E0	SNV	ZIM3,5_prime_UTR_variant,,ENST00000269834,;	364	142	109	SUCCESS
BSG	682	.	GRCh37	19	579507	579507	+	synonymous_variant	Silent	SNP	A	A	T	rs778356022	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	76	0	ENST00000333511.3:c.423A>T	p.Thr141=	p.T141=	ENST00000333511	NM_001728.3	141	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12033.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF12,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000333769	.	3/9	.	.	.	.	.	.	.	.	rs778356022	3/9	PASS	ENST00000333511	Transcript	1	.	ENSG00000172270	1116	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BASI_HUMAN	BSG	HGNC	R4GN83_HUMAN,R4GMX5_HUMAN	.	UPI0000051E38	SNV	BSG,synonymous_variant,p.%3D,ENST00000353555,;BSG,synonymous_variant,p.%3D,ENST00000333511,;BSG,5_prime_UTR_variant,,ENST00000573784,;BSG,5_prime_UTR_variant,,ENST00000545507,;BSG,5_prime_UTR_variant,,ENST00000576984,;BSG,intron_variant,,ENST00000573216,;BSG,intron_variant,,ENST00000346916,;BSG,non_coding_transcript_exon_variant,,ENST00000574970,;BSG,non_coding_transcript_exon_variant,,ENST00000572899,;BSG,non_coding_transcript_exon_variant,,ENST00000576925,;BSG,non_coding_transcript_exon_variant,,ENST00000571735,;BSG,downstream_gene_variant,,ENST00000590218,;	493	76	63	SUCCESS
FUT5	2527	.	GRCh37	19	5867550	5867550	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747185407	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	31	94	1	ENST00000252675.5:c.187C>T	p.Arg63Cys	p.R63C	ENST00000252675		63	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12154.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGGGACC	NONE	byFrequency	.	hmmpanther:PTHR11929:SF137,hmmpanther:PTHR11929,Pfam_domain:PF00852	.	.	ENSP00000252675	.	5/5	.	.	.	.	.	.	.	.	rs747185407,COSM1641263	5/5	PASS	ENST00000252675	Transcript	.	.	ENSG00000130383	4016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.19)	0,1	FUT5_HUMAN	FUT5	HGNC	K7ENC0_HUMAN	.	UPI000013CD7B	SNV	FUT5,missense_variant,p.Arg63Cys,ENST00000252675,;FUT5,missense_variant,p.Arg63Cys,ENST00000588525,;AC024592.12,downstream_gene_variant,,ENST00000585661,;AC024592.12,downstream_gene_variant,,ENST00000586349,;AC024592.12,3_prime_UTR_variant,,ENST00000592091,;	750	95	108	SUCCESS
CLPP	8192	.	GRCh37	19	6366366	6366366	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	80	0	ENST00000245816.4:c.653A>T	p.Gln218Leu	p.Q218L	ENST00000245816	NM_006012.2	218	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12162.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGGTGA	NONE	.	.	HAMAP:MF_00444,hmmpanther:PTHR10381:SF11,hmmpanther:PTHR10381,Gene3D:3.90.226.10,Pfam_domain:PF00574,Superfamily_domains:SSF52096	.	.	ENSP00000245816	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000245816	Transcript	1	.	ENSG00000125656	2084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.01)	.	CLPP_HUMAN	CLPP	HGNC	M0R208_HUMAN,A4UCS4_HUMAN	.	UPI0000000C4D	SNV	CLPP,missense_variant,p.Gln218Leu,ENST00000245816,;CLPP,missense_variant,p.Gln131Leu,ENST00000596149,;CLPP,missense_variant,p.Gln155Leu,ENST00000597326,;CLPP,3_prime_UTR_variant,,ENST00000596605,;CTB-180A7.3,upstream_gene_variant,,ENST00000595644,;CLPP,non_coding_transcript_exon_variant,,ENST00000596070,;CLPP,downstream_gene_variant,,ENST00000594780,;	776	80	43	SUCCESS
PRSS57	400668	.	GRCh37	19	691985	691985	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	88	0	ENST00000329267.7:c.254T>A	p.Leu85Gln	p.L85Q	ENST00000329267	NM_214710.3	85	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12041.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGGCCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF58,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000327386	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000329267	Transcript	.	.	ENSG00000185198	31397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.34)	.	PRS57_HUMAN	PRSS57	HGNC	.	.	UPI000022AA4D	SNV	PRSS57,missense_variant,p.Leu85Gln,ENST00000329267,;RPS2P52,downstream_gene_variant,,ENST00000469610,;	284	88	71	SUCCESS
PNPLA6	10908	.	GRCh37	19	7625969	7625969	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	54	0	ENST00000414982.3:c.3916A>T	p.Ser1306Cys	p.S1306C	ENST00000414982	NM_001166111.1	1306	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS54206.1	3916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGAGCTAT	NONE	.	.	hmmpanther:PTHR14226:SF26,hmmpanther:PTHR14226	.	.	ENSP00000407509	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000414982	Transcript	1	.	ENSG00000032444	16268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	deleterious(0.05)	.	PLPL6_HUMAN	PNPLA6	HGNC	.	.	UPI0001AE63FF	SNV	PNPLA6,missense_variant,p.Ser1258Cys,ENST00000450331,;PNPLA6,missense_variant,p.Ser1296Cys,ENST00000600737,;PNPLA6,missense_variant,p.Ser1231Cys,ENST00000545201,;PNPLA6,missense_variant,p.Ser1258Cys,ENST00000221249,;PNPLA6,missense_variant,p.Ser86Cys,ENST00000599947,;PNPLA6,missense_variant,p.Ser1306Cys,ENST00000414982,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000597202,;PNPLA6,downstream_gene_variant,,ENST00000595352,;	4111	54	46	SUCCESS
ELANE	1991	.	GRCh37	19	853375	853375	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs773808780	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	51	228	1	ENST00000263621.1:c.338A>T	p.Asn113Ile	p.N113I	ENST00000263621	NM_001972.2	113	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS12045.1	338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAAACTTGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257:SF16,hmmpanther:PTHR24257,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000466090	.	4/6	.	.	.	.	.	.	.	.	rs773808780	4/6	PASS	ENST00000590230	Transcript	1	.	ENSG00000197561	3309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.13)	.	ELNE_HUMAN	ELANE	HGNC	B2MUD5_HUMAN	.	UPI0000129E6B	SNV	ELANE,missense_variant,p.Asn113Ile,ENST00000263621,;ELANE,missense_variant,p.Asn113Ile,ENST00000590230,;	479	229	156	SUCCESS
PRAM1	84106	.	GRCh37	19	8563756	8563756	+	synonymous_variant	Silent	SNP	G	G	A	rs760589066	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	75	0	ENST00000423345.4:c.936C>T	p.Ala312=	p.A312=	ENST00000423345		312	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45954.2	936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCGGCCGG	NONE	.	.	hmmpanther:PTHR16830:SF6,hmmpanther:PTHR16830	.	.	ENSP00000408342	.	2/10	.	.	.	.	.	.	.	.	rs760589066	2/10	PASS	ENST00000423345	Transcript	.	.	ENSG00000133246	30091	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRAM_HUMAN	PRAM1	HGNC	.	.	UPI00001AE786	SNV	PRAM1,synonymous_variant,p.%3D,ENST00000255612,;PRAM1,synonymous_variant,p.%3D,ENST00000423345,;PRAM1,downstream_gene_variant,,ENST00000600262,;	1457	75	100	SUCCESS
MUC16	94025	.	GRCh37	19	9061256	9061256	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	116	0	ENST00000397910.4:c.26190T>A	p.Ser8730=	p.S8730=	ENST00000397910	NM_024690.2	8730	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54212.1	26190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCAGAAAG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	26394	116	95	SUCCESS
KCNA2	3737	.	GRCh37	1	111146551	111146551	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	88	0	ENST00000316361.4:c.854A>T	p.Gln285Leu	p.Q285L	ENST00000316361	NM_004974.3	285	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS827.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTGGCCT	NONE	.	.	Prints_domain:PR01509,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537:SF23,hmmpanther:PTHR11537	.	.	ENSP00000433109	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000485317	Transcript	.	.	ENSG00000177301	6220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.03)	.	KCNA2_HUMAN	KCNA2	HGNC	.	.	UPI00001279A1	SNV	KCNA2,missense_variant,p.Gln285Leu,ENST00000440270,;KCNA2,missense_variant,p.Gln285Leu,ENST00000485317,;KCNA2,missense_variant,p.Gln285Leu,ENST00000316361,;KCNA2,missense_variant,p.Gln285Leu,ENST00000369770,;KCNA2,downstream_gene_variant,,ENST00000525120,;	1528	88	65	SUCCESS
CHIAP2	149620	.	GRCh37	1	111825627	111825627	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	45	0	ENST00000369743.4:n.1172G>T		p.*391*	ENST00000369743				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGAGGCC	NONE	.	.	.	.	.	.	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000369743	Transcript	.	.	ENSG00000203878	44463	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CHIAP2	HGNC	.	.	.	SNV	CHIAP2,non_coding_transcript_exon_variant,,ENST00000369743,;CHIAP2,non_coding_transcript_exon_variant,,ENST00000456752,;CHIAP2,upstream_gene_variant,,ENST00000449687,;CHIAP2,non_coding_transcript_exon_variant,,ENST00000532686,;	1172	45	42	SUCCESS
CD101	9398	.	GRCh37	1	117556032	117556032	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	69	0	ENST00000256652.4:c.846A>T	p.Lys282Asn	p.K282N	ENST00000256652	NM_004258.5	282	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS891.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAAGATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF20,hmmpanther:PTHR12207,SMART_domains:SM00406	.	.	ENSP00000256652	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000256652	Transcript	.	.	ENSG00000134256	5949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious(0.02)	.	IGSF2_HUMAN	CD101	HGNC	.	.	UPI000013CF1F	SNV	CD101,missense_variant,p.Lys282Asn,ENST00000369470,;CD101,missense_variant,p.Lys282Asn,ENST00000256652,;	904	69	48	SUCCESS
TNFRSF8	943	.	GRCh37	1	12183820	12183820	+	synonymous_variant	Silent	SNP	G	G	A	rs1288037514	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	104	0	ENST00000263932.2:c.1089G>A	p.Thr363=	p.T363=	ENST00000263932	NM_001243.3	363	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS144.1	1089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGCTGCC	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF85	.	.	ENSP00000263932	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000263932	Transcript	.	.	ENSG00000120949	11923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TNFRSF8	HGNC	A5D8T4_HUMAN	.	UPI000013D48C	SNV	TNFRSF8,synonymous_variant,p.%3D,ENST00000417814,;TNFRSF8,synonymous_variant,p.%3D,ENST00000263932,;TNFRSF8,upstream_gene_variant,,ENST00000413146,;TNFRSF8,upstream_gene_variant,,ENST00000479933,;TNFRSF8,3_prime_UTR_variant,,ENST00000514649,;	1311	104	71	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144868114	144868114	+	synonymous_variant	Silent	SNP	G	G	T	rs376826439	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	16	142	0	ENST00000369354.3:c.5325C>A	p.Ala1775=	p.A1775=	ENST00000369354		1775	gcC/gcA	0	A:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS55627.1	5325	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGGCTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	A:0	ENSP00000358363	.	33/44	.	.	.	.	.	.	.	.	rs376826439,COSM121514	33/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,upstream_gene_variant,,ENST00000530130,;RP4-791M13.4,downstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,upstream_gene_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000494734,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000481227,;PDE4DIP,upstream_gene_variant,,ENST00000527901,;	5616	142	178	SUCCESS
ANKRD35	148741	.	GRCh37	1	145555806	145555806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	64	134	0	ENST00000355594.4:c.154T>A	p.Ser52Thr	p.S52T	ENST00000355594	NM_144698.4	52	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS919.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACTCGAAT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24161:SF14,hmmpanther:PTHR24161,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000347802	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000355594	Transcript	.	.	ENSG00000198483	26323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	tolerated(0.27)	.	ANR35_HUMAN	ANKRD35	HGNC	.	.	UPI000013E1CE	SNV	ANKRD35,missense_variant,p.Ser52Thr,ENST00000355594,;ANKRD35,missense_variant,p.Ser52Thr,ENST00000544626,;	241	134	239	SUCCESS
GJA5	2702	.	GRCh37	1	147231300	147231300	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	11	67	0	ENST00000271348.2:c.47A>T	p.Lys16Met	p.K16M	ENST00000271348	NM_005266.6	16	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS929.1	47	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTTGTGT	NONE	.	.	hmmpanther:PTHR11984:SF13,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00	.	.	ENSP00000271348	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000271348	Transcript	.	.	ENSG00000143140	4279	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	CXA5_HUMAN	GJA5	HGNC	.	.	UPI000013D8D2	SNV	GJA5,missense_variant,p.Lys16Met,ENST00000271348,;GJA5,missense_variant,p.Lys16Met,ENST00000369237,;GJA5,missense_variant,p.Lys16Met,ENST00000430508,;RP11-433J22.2,downstream_gene_variant,,ENST00000428911,;	209	67	105	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150123217	150123217	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	363	40	220	0	ENST00000369124.4:c.146A>T	p.Lys49Ile	p.K49I	ENST00000369124	NM_016274.4	49	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS945.1	146	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAAGGGG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000358120	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.863)	.	deleterious(0.01)	.	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,missense_variant,p.Lys49Ile,ENST00000369124,;PLEKHO1,missense_variant,p.Lys49Ile,ENST00000025469,;PLEKHO1,5_prime_UTR_variant,,ENST00000369126,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000479194,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000492304,;PLEKHO1,upstream_gene_variant,,ENST00000477309,;PLEKHO1,upstream_gene_variant,,ENST00000466659,;	424	220	404	SUCCESS
PRPF3	9129	.	GRCh37	1	150316900	150316900	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	423	372	0	ENST00000324862.6:c.1527-10G>T		p.*509*	ENST00000324862	NM_004698.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS951.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGTCACG	NONE	.	.	.	.	.	ENSP00000315379	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324862	Transcript	.	.	ENSG00000117360	17348	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRPF3_HUMAN	PRPF3	HGNC	.	.	UPI00000729AA	SNV	PRPF3,intron_variant,,ENST00000543398,;PRPF3,intron_variant,,ENST00000324862,;PRPF3,intron_variant,,ENST00000414970,;PRPF3,non_coding_transcript_exon_variant,,ENST00000467329,;PRPF3,upstream_gene_variant,,ENST00000476970,;PRPF3,downstream_gene_variant,,ENST00000493553,;PRPF3,upstream_gene_variant,,ENST00000470824,;	.	372	661	SUCCESS
HORMAD1	84072	.	GRCh37	1	150680778	150680778	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	244	80	200	0	ENST00000361824.2:c.501A>T	p.Leu167Phe	p.L167F	ENST00000361824	NM_032132.4	167	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS967.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGTAAAGG	NONE	.	.	Superfamily_domains:0040144,Gene3D:1go4B00,Pfam_domain:PF02301,hmmpanther:PTHR21518:SF4,hmmpanther:PTHR21518,PROSITE_profiles:PS50815	.	.	ENSP00000355167	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	SNV	HORMAD1,missense_variant,p.Leu167Phe,ENST00000361824,;HORMAD1,missense_variant,p.Leu167Phe,ENST00000368993,;HORMAD1,missense_variant,p.Leu89Phe,ENST00000442853,;HORMAD1,missense_variant,p.Leu96Phe,ENST00000368987,;HORMAD1,missense_variant,p.Leu160Phe,ENST00000322343,;HORMAD1,missense_variant,p.Leu87Phe,ENST00000368995,;HORMAD1,upstream_gene_variant,,ENST00000470397,;HORMAD1,upstream_gene_variant,,ENST00000486497,;	607	201	324	SUCCESS
HORMAD1	84072	.	GRCh37	1	150686584	150686584	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	627	208	486	0	ENST00000361824.2:c.256T>A	p.Tyr86Asn	p.Y86N	ENST00000361824	NM_032132.4	86	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS967.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATAACATC	NONE	.	.	Superfamily_domains:0040144,Gene3D:1go4B00,Pfam_domain:PF02301,hmmpanther:PTHR21518:SF4,hmmpanther:PTHR21518,PROSITE_profiles:PS50815	.	.	ENSP00000355167	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	SNV	HORMAD1,missense_variant,p.Tyr86Asn,ENST00000361824,;HORMAD1,missense_variant,p.Tyr86Asn,ENST00000368993,;HORMAD1,missense_variant,p.Tyr15Asn,ENST00000442853,;HORMAD1,missense_variant,p.Tyr15Asn,ENST00000368987,;HORMAD1,missense_variant,p.Tyr86Asn,ENST00000322343,;HORMAD1,missense_variant,p.Tyr15Asn,ENST00000368995,;HORMAD1,non_coding_transcript_exon_variant,,ENST00000476530,;	362	486	835	SUCCESS
ANXA9	8416	.	GRCh37	1	150956828	150956829	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	166	23	103	0	ENST00000368947.4:c.339_340delinsT	p.Thr114GlnfsTer9	p.T114Qfs*9	ENST00000368947	NM_003568.2	113	ccCAca/ccTca	0	.	.	.	.	.	T	PT/PX	protein_coding	YES	CCDS975.2	339-340	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	GCAGCCCACAGCC	NONE	.	.	Superfamily_domains:SSF47874,Gene3D:1.10.220.10,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF12	.	.	ENSP00000357943	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000368947	Transcript	.	.	ENSG00000143412	547	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANXA9_HUMAN	ANXA9	HGNC	.	.	UPI0000035D92	substitution	ANXA9,frameshift_variant,p.Thr114GlnfsTer9,ENST00000368947,;ANXA9,non_coding_transcript_exon_variant,,ENST00000474997,;	815-816	103	189	SUCCESS
ANXA9	8416	.	GRCh37	1	150957133	150957133	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	13	42	0	ENST00000368947.4:c.453C>G	p.Cys151Trp	p.C151W	ENST00000368947	NM_003568.2	151	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS975.2	453	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCCTGGC	NONE	.	.	Superfamily_domains:SSF47874,SMART_domains:SM00335,Gene3D:1.10.220.10,Pfam_domain:PF00191,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF12	.	.	ENSP00000357943	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000368947	Transcript	.	.	ENSG00000143412	547	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ANXA9_HUMAN	ANXA9	HGNC	.	.	UPI0000035D92	SNV	ANXA9,missense_variant,p.Cys151Trp,ENST00000368947,;ANXA9,downstream_gene_variant,,ENST00000474997,;	929	42	94	SUCCESS
PRUNE	0	.	GRCh37	1	151006513	151006513	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	20	161	0	ENST00000271620.3:c.1165A>T	p.Arg389Trp	p.R389W	ENST00000271620	NM_021222.1	389	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS977.1	1165	RADIA|MUTECT|MUSE	.	TGGACAGGGCA	NONE	.	.	hmmpanther:PTHR21466,hmmpanther:PTHR21466:SF13	.	.	ENSP00000271620	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000271620	Transcript	.	.	ENSG00000143363	13420	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.599)	.	deleterious(0.04)	.	PRUNE_HUMAN	PRUNE	HGNC	Q5SZF2_HUMAN,B7ZB72_HUMAN	.	UPI000004BF0B	SNV	PRUNE,missense_variant,p.Arg154Trp,ENST00000431193,;PRUNE,missense_variant,p.Arg154Trp,ENST00000368934,;PRUNE,missense_variant,p.Arg207Trp,ENST00000368936,;PRUNE,missense_variant,p.Arg104Trp,ENST00000368935,;PRUNE,missense_variant,p.Arg177Trp,ENST00000271619,;PRUNE,missense_variant,p.Arg154Trp,ENST00000368937,;PRUNE,missense_variant,p.Arg389Trp,ENST00000271620,;BNIPL,upstream_gene_variant,,ENST00000392802,;BNIPL,upstream_gene_variant,,ENST00000368931,;BNIPL,upstream_gene_variant,,ENST00000295294,;BNIPL,upstream_gene_variant,,ENST00000361277,;PRUNE,downstream_gene_variant,,ENST00000450884,;PRUNE,downstream_gene_variant,,ENST00000475722,;PRUNE,downstream_gene_variant,,ENST00000462440,;BNIPL,upstream_gene_variant,,ENST00000485855,;	1321	161	233	SUCCESS
PI4KB	5298	.	GRCh37	1	151278812	151278812	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1456044414	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	32	104	0	ENST00000368873.1:c.1210C>T	p.Leu404Phe	p.L404F	ENST00000368873		404	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS993.1	1246	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGGACTT	NONE	.	.	hmmpanther:PTHR10048:SF22,hmmpanther:PTHR10048,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112	.	.	ENSP00000357869	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000368875	Transcript	.	.	ENSG00000143393	8984	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	PI4KB_HUMAN	PI4KB	HGNC	F8W860_HUMAN,E9PL47_HUMAN,E9PIH4_HUMAN	.	UPI000007161F	SNV	PI4KB,missense_variant,p.Leu389Phe,ENST00000368874,;PI4KB,missense_variant,p.Leu72Phe,ENST00000529142,;PI4KB,missense_variant,p.Leu404Phe,ENST00000368873,;PI4KB,missense_variant,p.Leu72Phe,ENST00000430800,;PI4KB,missense_variant,p.Leu72Phe,ENST00000489223,;PI4KB,missense_variant,p.Leu389Phe,ENST00000368872,;PI4KB,missense_variant,p.Leu416Phe,ENST00000271657,;PI4KB,missense_variant,p.Leu416Phe,ENST00000368875,;PI4KB,non_coding_transcript_exon_variant,,ENST00000460323,;PI4KB,upstream_gene_variant,,ENST00000469239,;	1827	104	230	SUCCESS
HRNR	388697	.	GRCh37	1	152191860	152191860	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	18	75	0	ENST00000368801.2:c.2245T>A	p.Ser749Thr	p.S749T	ENST00000368801	NM_001009931.2	749	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30859.1	2245	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGACAAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Ser749Thr,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	2321	75	160	SUCCESS
FLG	2312	.	GRCh37	1	152283807	152283807	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	19	111	0	ENST00000368799.1:c.3555A>T	p.Val1185=	p.V1185=	ENST00000368799	NM_002016.1	1185	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30860.1	3555	RADIA|MUTECT|MUSE|VARSCANS	.	CTATCTACCGA	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	3591	111	181	SUCCESS
FLG	2312	.	GRCh37	1	152285144	152285144	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs777181377	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	14	82	0	ENST00000368799.1:c.2218C>G	p.Arg740Gly	p.R740G	ENST00000368799	NM_002016.1	740	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS30860.1	2218	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGGTGTC	NONE	byFrequency	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs777181377	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.908)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Arg740Gly,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	2254	82	119	SUCCESS
S100A3	6274	.	GRCh37	1	153520241	153520241	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	35	117	0	ENST00000368712.1:c.223T>A	p.Tyr75Asn	p.Y75N	ENST00000368712		75	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS1043.1	223	RADIA|MUTECT|MUSE|VARSCANS	.	CACATACTCCA	NONE	.	.	hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF12,PROSITE_patterns:PS00303,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357702	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368713	Transcript	.	.	ENSG00000188015	10493	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	S10A3_HUMAN	S100A3	HGNC	.	.	UPI000003417C	SNV	S100A3,missense_variant,p.Tyr75Asn,ENST00000368713,;S100A3,missense_variant,p.Tyr75Asn,ENST00000368712,;S100A4,intron_variant,,ENST00000368714,;S100A4,upstream_gene_variant,,ENST00000354332,;S100A4,upstream_gene_variant,,ENST00000368715,;S100A4,upstream_gene_variant,,ENST00000368716,;S100A4,upstream_gene_variant,,ENST00000468373,;S100A4,upstream_gene_variant,,ENST00000481009,;	420	117	203	SUCCESS
UBAP2L	9898	.	GRCh37	1	154226401	154226401	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	42	94	0	ENST00000361546.2:c.1690A>T	p.Asn564Tyr	p.N564Y	ENST00000361546		564	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS1063.1	1690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTAACCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16308:SF18,hmmpanther:PTHR16308	.	.	ENSP00000389445	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,missense_variant,p.Asn564Tyr,ENST00000361546,;UBAP2L,missense_variant,p.Asn575Tyr,ENST00000271877,;UBAP2L,missense_variant,p.Asn564Tyr,ENST00000343815,;UBAP2L,missense_variant,p.Asn564Tyr,ENST00000428931,;UBAP2L,upstream_gene_variant,,ENST00000433615,;UBAP2L,upstream_gene_variant,,ENST00000428595,;AL590431.1,upstream_gene_variant,,ENST00000517008,;UBAP2L,upstream_gene_variant,,ENST00000484696,;UBAP2L,downstream_gene_variant,,ENST00000466173,;UBAP2L,upstream_gene_variant,,ENST00000495676,;UBAP2L,upstream_gene_variant,,ENST00000489076,;UBAP2L,upstream_gene_variant,,ENST00000465855,;	1857	94	168	SUCCESS
TDRD10	126668	.	GRCh37	1	154517399	154517399	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	12	73	0	ENST00000368480.3:c.926T>A	p.Leu309Gln	p.L309Q	ENST00000368480		309	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS41406.1	926	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTGACTC	NONE	.	.	hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948,Pfam_domain:PF00567,Superfamily_domains:SSF63748	.	.	ENSP00000357465	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000368480	Transcript	.	.	ENSG00000163239	25316	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TDR10_HUMAN	TDRD10	HGNC	.	.	UPI0001533DB6	SNV	TDRD10,missense_variant,p.Leu309Gln,ENST00000368482,;TDRD10,missense_variant,p.Leu309Gln,ENST00000368480,;UBE2Q1,downstream_gene_variant,,ENST00000292211,;TDRD10,non_coding_transcript_exon_variant,,ENST00000468714,;TDRD10,non_coding_transcript_exon_variant,,ENST00000479937,;TDRD10,downstream_gene_variant,,ENST00000462871,;	1011	73	113	SUCCESS
ADAR	103	.	GRCh37	1	154561139	154561139	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	17	84	0	ENST00000368474.4:c.2773A>T	p.Ser925Cys	p.S925C	ENST00000368474	NM_001111.4	925	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1071.1	2773	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTGTAGA	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000357459	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000368474	Transcript	.	.	ENSG00000160710	225	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	DSRAD_HUMAN	ADAR	HGNC	.	.	UPI000045626B	SNV	ADAR,missense_variant,p.Ser968Cys,ENST00000292205,;ADAR,missense_variant,p.Ser894Cys,ENST00000529168,;ADAR,missense_variant,p.Ser630Cys,ENST00000368471,;ADAR,missense_variant,p.Ser925Cys,ENST00000368474,;ADAR,upstream_gene_variant,,ENST00000530954,;ADAR,upstream_gene_variant,,ENST00000534279,;ADAR,upstream_gene_variant,,ENST00000492630,;	2973	84	137	SUCCESS
ASH1L	55870	.	GRCh37	1	155450303	155450303	+	synonymous_variant	Silent	SNP	T	T	A	rs749277164	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	268	32	185	0	ENST00000368346.3:c.2358A>T	p.Thr786=	p.T786=	ENST00000368346		786	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1113.2	2358	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTGTGGA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	rs749277164	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,synonymous_variant,p.%3D,ENST00000368346,;ASH1L,synonymous_variant,p.%3D,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000548830,;	2837	185	301	SUCCESS
IQGAP3	128239	.	GRCh37	1	156517962	156517962	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	31	86	0	ENST00000361170.2:c.2207A>T	p.Gln736Leu	p.Q736L	ENST00000361170	NM_178229.4	736	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1144.1	2207	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTGGATA	NONE	.	.	PROSITE_profiles:PS50096,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10,Pfam_domain:PF00612,SMART_domains:SM00015	.	.	ENSP00000354451	.	19/38	.	.	.	.	.	.	.	.	.	19/38	PASS	ENST00000361170	Transcript	.	.	ENSG00000183856	20669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	tolerated(0.09)	.	IQGA3_HUMAN	IQGAP3	HGNC	F2Z2E2_HUMAN	.	UPI000046FFDD	SNV	IQGAP3,missense_variant,p.Gln736Leu,ENST00000361170,;IQGAP3,missense_variant,p.Gln693Leu,ENST00000491900,;	2218	86	177	SUCCESS
BCAN	63827	.	GRCh37	1	156617431	156617431	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	24	0	ENST00000329117.5:c.598T>A	p.Tyr200Asn	p.Y200N	ENST00000329117	NM_021948.4	200	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS1149.1	598	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTATGAG	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436,Prints_domain:PR01265	.	.	ENSP00000331210	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,missense_variant,p.Tyr200Asn,ENST00000361588,;BCAN,missense_variant,p.Tyr200Asn,ENST00000457777,;BCAN,missense_variant,p.Tyr98Asn,ENST00000424639,;BCAN,missense_variant,p.Tyr200Asn,ENST00000329117,;BCAN,downstream_gene_variant,,ENST00000441358,;RP11-284F21.7,intron_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,3_prime_UTR_variant,,ENST00000491823,;BCAN,intron_variant,,ENST00000479949,;	934	24	46	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156939079	156939079	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	14	91	0	ENST00000361409.2:c.700A>T	p.Ser234Cys	p.S234C	ENST00000361409	NM_014784.3	234	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1163.1	820	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTGAGGG	NONE	.	.	hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825	.	.	ENSP00000357177	.	10/41	.	.	.	.	.	.	.	.	.	10/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	deleterious(0.02)	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,missense_variant,p.Ser234Cys,ENST00000361409,;ARHGEF11,missense_variant,p.Ser274Cys,ENST00000368194,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000483682,;	1860	91	154	SUCCESS
CD5L	922	.	GRCh37	1	157804379	157804379	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	39	45	0	ENST00000368174.4:c.536T>A	p.Leu179Gln	p.L179Q	ENST00000368174	NM_005894.2	179	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1171.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCAGCTGC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	.	.	ENSP00000357156	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,missense_variant,p.Leu179Gln,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	633	45	113	SUCCESS
OR10K2	391107	.	GRCh37	1	158390244	158390244	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754880009	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	23	114	0	ENST00000314902.2:c.413A>T	p.His138Leu	p.H138L	ENST00000314902	NM_001004476.1	138	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS30896.1	413	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCATGTCCC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF325,PROSITE_profiles:PS50262	.	.	ENSP00000324251	.	1/1	.	.	.	.	.	.	.	.	rs754880009	1/1	PASS	ENST00000314902	Transcript	.	.	ENSG00000180708	14826	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.044)	.	tolerated(0.51)	.	O10K2_HUMAN	OR10K2	HGNC	.	.	UPI0000041BC2	SNV	OR10K2,missense_variant,p.His138Leu,ENST00000314902,;	413	115	210	SUCCESS
OR6P1	128366	.	GRCh37	1	158532685	158532685	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	54	81	0	ENST00000334632.1:c.710C>T	p.Ala237Val	p.A237V	ENST00000334632	NM_001160325.1	237	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS53391.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGCTTTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,missense_variant,p.Ala237Val,ENST00000334632,;	710	81	178	SUCCESS
SLAMF9	89886	.	GRCh37	1	159923228	159923228	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	35	148	0	ENST00000368093.3:c.262T>G	p.Phe88Val	p.F88V	ENST00000368093	NM_033438.3	88	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS1191.1	262	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAGCTCA	NONE	.	.	hmmpanther:PTHR12080:SF18,hmmpanther:PTHR12080,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	.	.	ENSP00000357072	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000368093	Transcript	.	.	ENSG00000162723	18430	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.54)	.	SLAF9_HUMAN	SLAMF9	HGNC	Q6NSE6_HUMAN	.	UPI000013E1B2	SNV	SLAMF9,missense_variant,p.Phe88Val,ENST00000368093,;SLAMF9,missense_variant,p.Phe88Val,ENST00000368092,;SLAMF9,splice_region_variant,,ENST00000489098,;SLAMF9,splice_region_variant,,ENST00000466773,;	379	148	267	SUCCESS
FCRLB	127943	.	GRCh37	1	161693276	161693276	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	34	141	0	ENST00000367948.2:c.172A>T	p.Ser58Cys	p.S58C	ENST00000367948		58	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS30927.1	172	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCAGCACT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481:SF46,hmmpanther:PTHR11481,PROSITE_profiles:PS50835	.	.	ENSP00000356925	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000367948	Transcript	.	.	ENSG00000162746	26431	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	FCRLB_HUMAN	FCRLB	HGNC	.	.	UPI00003FF782	SNV	FCRLB,missense_variant,p.Ser58Cys,ENST00000367948,;FCRLB,missense_variant,p.Ser58Cys,ENST00000392158,;FCRLB,missense_variant,p.Ser51Cys,ENST00000367944,;FCRLB,missense_variant,p.Ser58Cys,ENST00000336830,;FCRLB,missense_variant,p.Ser58Cys,ENST00000367946,;FCRLB,missense_variant,p.Ser51Cys,ENST00000367945,;FCRLB,upstream_gene_variant,,ENST00000495397,;	387	141	257	SUCCESS
CLCNKA	1187	.	GRCh37	1	16358337	16358337	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	60	120	0	ENST00000331433.4:c.1755A>T		p.X585_splice	ENST00000331433		585	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS167.1	1755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGGTGC	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Gene3D:3.10.580.10,SMART_domains:SM00116,Superfamily_domains:SSF54631	.	.	ENSP00000332771	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000331433	Transcript	.	.	ENSG00000186510	2026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCKA_HUMAN	CLCNKA	HGNC	.	.	UPI0000127993	SNV	CLCNKA,synonymous_variant,p.%3D,ENST00000331433,;CLCNKA,synonymous_variant,p.%3D,ENST00000420078,;CLCNKA,synonymous_variant,p.%3D,ENST00000439316,;CLCNKA,synonymous_variant,p.%3D,ENST00000375692,;CLCNKA,splice_region_variant,,ENST00000464764,;CLCNKA,downstream_gene_variant,,ENST00000491433,;RP11-5P18.10,downstream_gene_variant,,ENST00000447882,;	1774	120	80	SUCCESS
ILDR2	387597	.	GRCh37	1	166927035	166927035	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs138041277	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	23	93	0	ENST00000271417.3:c.350A>T	p.Tyr117Phe	p.Y117F	ENST00000271417	NM_199351.2	117	tAc/tTc	0	C:0	.	.	.	.	A	Y/F	protein_coding	YES	CCDS1256.1	350	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTAGAAA	NONE	byCluster	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	C:0.0001	ENSP00000271417	.	2/10	.	.	.	.	.	.	.	.	rs138041277	2/10	PASS	ENST00000271417	Transcript	.	.	ENSG00000143195	18131	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ILDR2_HUMAN	ILDR2	HGNC	.	.	UPI00002317DF	SNV	ILDR2,missense_variant,p.Tyr117Phe,ENST00000526687,;ILDR2,missense_variant,p.Tyr117Phe,ENST00000529387,;ILDR2,missense_variant,p.Tyr117Phe,ENST00000271417,;ILDR2,missense_variant,p.Tyr117Phe,ENST00000469934,;ILDR2,missense_variant,p.Tyr117Phe,ENST00000525740,;ILDR2,missense_variant,p.Tyr117Phe,ENST00000529071,;ILDR2,missense_variant,p.Tyr117Phe,ENST00000528703,;	406	93	165	SUCCESS
NME7	29922	.	GRCh37	1	169200018	169200018	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777597073	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	781	107	420	0	ENST00000367811.3:c.928A>G	p.Met310Val	p.M310V	ENST00000367811	NM_013330.3	310	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS1277.1	928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATTGCTA	NONE	.	.	hmmpanther:PTHR11349,Gene3D:3.30.70.141,Pfam_domain:PF00334,SMART_domains:SM00562,PIRSF_domain:PIRSF036503,Superfamily_domains:SSF54919	.	.	ENSP00000356785	.	10/12	.	.	.	.	.	.	.	.	rs777597073	10/12	PASS	ENST00000367811	Transcript	.	.	ENSG00000143156	20461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.06)	.	NDK7_HUMAN	NME7	HGNC	.	.	UPI000012FE8C	SNV	NME7,missense_variant,p.Met310Val,ENST00000367811,;NME7,missense_variant,p.Met274Val,ENST00000472647,;NME7,non_coding_transcript_exon_variant,,ENST00000480478,;NME7,non_coding_transcript_exon_variant,,ENST00000483228,;NME7,upstream_gene_variant,,ENST00000493481,;NME7,missense_variant,p.Met310Val,ENST00000525440,;NME7,3_prime_UTR_variant,,ENST00000528517,;	1185	420	888	SUCCESS
MROH9	80133	.	GRCh37	1	170916672	170916672	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	30	100	0	ENST00000367758.3:c.30T>A	p.Ser10Arg	p.S10R	ENST00000367758	NM_025063.2	10	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS53429.1	30	RADIA|MUTECT|MUSE	.	GAGAGTAGTCT	NONE	.	.	.	.	.	ENSP00000356733	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000367759	Transcript	.	.	ENSG00000117501	26287	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.663)	.	deleterious_low_confidence(0)	.	MROH9_HUMAN	MROH9	HGNC	.	.	UPI0001B09232	SNV	MROH9,missense_variant,p.Ser10Arg,ENST00000367759,;MROH9,missense_variant,p.Ser10Arg,ENST00000367758,;	184	100	174	SUCCESS
PIGC	5279	.	GRCh37	1	172411330	172411330	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	35	144	0	ENST00000344529.4:c.433A>T	p.Ser145Cys	p.S145C	ENST00000344529		145	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1302.1	433	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTGACAG	NONE	.	.	hmmpanther:PTHR12982,Pfam_domain:PF06432,PIRSF_domain:PIRSF016104	.	.	ENSP00000356702	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367728	Transcript	.	.	ENSG00000135845	8960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0.02)	.	PIGC_HUMAN	PIGC	HGNC	.	.	UPI0000131AB1	SNV	PIGC,missense_variant,p.Ser145Cys,ENST00000367728,;PIGC,missense_variant,p.Ser145Cys,ENST00000258324,;PIGC,missense_variant,p.Ser145Cys,ENST00000344529,;C1orf105,intron_variant,,ENST00000367727,;C1orf105,upstream_gene_variant,,ENST00000488100,;PIGC,intron_variant,,ENST00000484368,;PIGC,downstream_gene_variant,,ENST00000478184,;	1897	144	234	SUCCESS
SLC9C2	284525	.	GRCh37	1	173505036	173505036	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	969	147	593	1	ENST00000367714.3:c.1708A>T	p.Ile570Leu	p.I570L	ENST00000367714	NM_178527.3	570	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS1308.1	1708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATAAGCC	NONE	.	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110	.	.	ENSP00000356687	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.17)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Ile570Leu,ENST00000367714,;SLC9C2,intron_variant,,ENST00000536496,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	2131	594	1117	SUCCESS
RC3H1	149041	.	GRCh37	1	173934198	173934198	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	188	23	104	0	ENST00000258349.4:c.1395A>T	p.Gln465His	p.Q465H	ENST00000258349	NM_172071.2	465	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS30940.1	1395	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGTTGACC	NONE	.	.	hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF6	.	.	ENSP00000356669	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000367696	Transcript	.	.	ENSG00000135870	29434	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.2)	.	RC3H1_HUMAN	RC3H1	HGNC	B9EGU6_HUMAN	.	UPI00001D7DA8	SNV	RC3H1,missense_variant,p.Gln465His,ENST00000367694,;RC3H1,missense_variant,p.Gln465His,ENST00000258349,;RC3H1,missense_variant,p.Gln465His,ENST00000367696,;RNA5SP68,downstream_gene_variant,,ENST00000363885,;RC3H1,upstream_gene_variant,,ENST00000531594,;	1747	104	211	SUCCESS
NPHS2	7827	.	GRCh37	1	179530443	179530443	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	378	65	222	0	ENST00000367615.4:c.432T>A	p.Pro144=	p.P144=	ENST00000367615	NM_014625.2	144	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1331.1	432	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGGAAG	NONE	.	.	Prints_domain:PR00721,SMART_domains:SM00244,Pfam_domain:PF01145,hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF23	.	.	ENSP00000356587	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000367615	Transcript	.	.	ENSG00000116218	13394	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PODO_HUMAN	NPHS2	HGNC	.	.	UPI000003F549	SNV	NPHS2,synonymous_variant,p.%3D,ENST00000367616,;NPHS2,synonymous_variant,p.%3D,ENST00000367615,;	501	222	443	SUCCESS
RGSL1	353299	.	GRCh37	1	182443327	182443327	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	231	33	146	0	ENST00000294854.8:c.1081A>T	p.Ile361Phe	p.I361F	ENST00000294854	NM_001137669.1	361	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS58049.1	1081	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCATCAAG	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845	.	.	ENSP00000457748	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.231)	.	tolerated(0.07)	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,missense_variant,p.Ile361Phe,ENST00000294854,;RGSL1,missense_variant,p.Ile396Phe,ENST00000542961,;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Ile396Phe,ENST00000443996,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000416676,;RGSL1,upstream_gene_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000444367,;	1101	146	264	SUCCESS
DHX9	1660	.	GRCh37	1	182836162	182836162	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	21	62	0	ENST00000367549.3:c.1541A>T	p.His514Leu	p.H514L	ENST00000367549	NM_001357.4	514	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS41444.1	1541	RADIA|MUTECT|MUSE|VARSCANS	.	AATACATGAAA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,PROSITE_patterns:PS00690,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000356520	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.His514Leu,ENST00000367549,;	1651	62	157	SUCCESS
LAMC2	3918	.	GRCh37	1	183208546	183208546	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	331	119	263	0	ENST00000264144.4:c.2917A>T	p.Met973Leu	p.M973L	ENST00000264144	NM_005562.2	973	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS1352.1	2917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCATGAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	.	.	ENSP00000264144	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.43)	.	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,missense_variant,p.Met973Leu,ENST00000264144,;LAMC2,missense_variant,p.Met973Leu,ENST00000493293,;LAMC2,upstream_gene_variant,,ENST00000476255,;LAMC2,upstream_gene_variant,,ENST00000461729,;	2982	263	451	SUCCESS
RGL1	23179	.	GRCh37	1	183857686	183857686	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	58	0	ENST00000360851.3:c.1030A>T	p.Lys344Ter	p.K344*	ENST00000360851		344	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS1359.1	1135	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTAAAAAAG	NONE	.	.	Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF199,PROSITE_profiles:PS50009	.	.	ENSP00000303192	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000304685	Transcript	.	.	ENSG00000143344	30281	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGL1_HUMAN	RGL1	HGNC	.	.	UPI000002B24C	SNV	RGL1,stop_gained,p.Lys379Ter,ENST00000304685,;RGL1,stop_gained,p.Lys344Ter,ENST00000539189,;RGL1,stop_gained,p.Lys342Ter,ENST00000536277,;RGL1,stop_gained,p.Lys344Ter,ENST00000360851,;	1584	58	114	SUCCESS
HMCN1	83872	.	GRCh37	1	186034407	186034407	+	synonymous_variant	Silent	SNP	G	G	T	rs777179177	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	53	0	ENST00000271588.4:c.7551G>T	p.Gly2517=	p.G2517=	ENST00000271588	NM_031935.2	2517	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30956.1	7551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGCAGCC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	49/107	.	.	.	.	.	.	.	.	rs777179177	49/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	7780	53	121	SUCCESS
PRG4	10216	.	GRCh37	1	186275482	186275482	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	28	129	0	ENST00000445192.2:c.631A>C	p.Lys211Gln	p.K211Q	ENST00000445192	NM_005807.3	211	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS1369.1	631	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAAACCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1	.	.	ENSP00000399679	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.791)	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,missense_variant,p.Lys118Gln,ENST00000367485,;PRG4,missense_variant,p.Lys120Gln,ENST00000533951,;PRG4,missense_variant,p.Lys77Gln,ENST00000367482,;PRG4,missense_variant,p.Lys170Gln,ENST00000367484,;PRG4,missense_variant,p.Lys168Gln,ENST00000367486,;PRG4,missense_variant,p.Lys211Gln,ENST00000445192,;PRG4,missense_variant,p.Lys170Gln,ENST00000367483,;	676	129	224	SUCCESS
PTGS2	5743	.	GRCh37	1	186644523	186644523	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	231	29	103	0	ENST00000367468.5:c.1263T>A	p.Ala421=	p.A421=	ENST00000367468	NM_000963.2	421	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1371.1	1263	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAGCAAC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11903:SF8,hmmpanther:PTHR11903,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000356438	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000367468	Transcript	.	.	ENSG00000073756	9605	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PGH2_HUMAN	PTGS2	HGNC	D9MWI3_HUMAN	.	UPI000000D926	SNV	PTGS2,synonymous_variant,p.%3D,ENST00000367468,;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,non_coding_transcript_exon_variant,,ENST00000466691,;PTGS2,downstream_gene_variant,,ENST00000559800,;PTGS2,3_prime_UTR_variant,,ENST00000559627,;	1400	103	261	SUCCESS
BRINP3	339479	.	GRCh37	1	190068155	190068155	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs560983384	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	34	164	0	ENST00000367462.3:c.1294C>A	p.Gln432Lys	p.Q432K	ENST00000367462	NM_199051.1	432	Cag/Aag	0	.	T:0.0008	.	T:0	.	T	Q/K	protein_coding	YES	CCDS1373.1	1294	RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGGTCAT	NONE	by1000G	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Superfamily_domains:SSF57184	T:0	.	ENSP00000356432	T:0	8/8	.	.	.	.	.	.	.	.	rs560983384	8/8	PASS	ENST00000367462	Transcript	.	T:0.0002	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.081)	T:0	tolerated(0.26)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Gln330Lys,ENST00000534846,;BRINP3,missense_variant,p.Gln432Lys,ENST00000367462,;	1526	164	239	SUCCESS
RGS2	5997	.	GRCh37	1	192778220	192778220	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	629	106	402	0	ENST00000235382.5:c.19T>A	p.Leu7Met	p.L7M	ENST00000235382	NM_002923.3	7	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS1377.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTTGGCT	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF43	.	.	ENSP00000235382	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000235382	Transcript	.	.	ENSG00000116741	9998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.13)	.	RGS2_HUMAN	RGS2	HGNC	Q49A86_HUMAN	.	UPI0000044575	SNV	RGS2,missense_variant,p.Leu7Met,ENST00000235382,;RGS2,non_coding_transcript_exon_variant,,ENST00000483295,;RGS2,non_coding_transcript_exon_variant,,ENST00000464302,;RGS2,upstream_gene_variant,,ENST00000487236,;	50	402	736	SUCCESS
ZBTB41	360023	.	GRCh37	1	197169358	197169358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	14	65	0	ENST00000367405.4:c.246G>T	p.Gln82His	p.Q82H	ENST00000367405	NM_194314.2	82	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS30960.1	246	MUTECT|MUSE|VARSCANS	.	TGCTTCTGCCT	NONE	.	.	hmmpanther:PTHR24402:SF161,hmmpanther:PTHR24402,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	.	.	ENSP00000356375	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000367405	Transcript	.	.	ENSG00000177888	24819	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.22)	.	ZBT41_HUMAN	ZBTB41	HGNC	Q8N9U5_HUMAN	.	UPI00001D7DE7	SNV	ZBTB41,missense_variant,p.Gln82His,ENST00000367405,;CRB1,upstream_gene_variant,,ENST00000535699,;ZBTB41,non_coding_transcript_exon_variant,,ENST00000467322,;	315	65	143	SUCCESS
CRB1	23418	.	GRCh37	1	197403940	197403940	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	251	51	183	0	ENST00000367400.3:c.2947A>T	p.Arg983Trp	p.R983W	ENST00000367400	NM_201253.2	983	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1390.1	2947	RADIA|MUTECT|MUSE|VARSCANS	.	GAACAAGGGAT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24049,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000356370	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.937)	.	deleterious(0.04)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Arg464Trp,ENST00000544212,;CRB1,missense_variant,p.Arg871Trp,ENST00000367399,;CRB1,missense_variant,p.Arg959Trp,ENST00000535699,;CRB1,missense_variant,p.Arg364Trp,ENST00000367397,;CRB1,missense_variant,p.Arg983Trp,ENST00000367400,;CRB1,intron_variant,,ENST00000538660,;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,missense_variant,p.Arg983Trp,ENST00000484075,;	3082	183	302	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200818090	200818090	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	296	53	178	0	ENST00000236925.4:c.2226A>T	p.Pro742=	p.P742=	ENST00000236925		742	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1404.1	2193	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCAGAAGA	NONE	.	.	hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595	.	.	ENSP00000351684	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	SNV	CAMSAP2,synonymous_variant,p.%3D,ENST00000413307,;CAMSAP2,synonymous_variant,p.%3D,ENST00000358823,;CAMSAP2,synonymous_variant,p.%3D,ENST00000236925,;CAMSAP2,intron_variant,,ENST00000447701,;	2463	178	349	SUCCESS
CACNA1S	779	.	GRCh37	1	201047004	201047005	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CA	CA	-	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	258	36	149	0	ENST00000362061.3:c.1619+2_1619+3del		p.X540_splice	ENST00000362061	NM_000069.2	540		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1407.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCACTCACTTGG	NONE	.	.	.	.	.	ENSP00000355192	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	HIGH	11/43	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	deletion	CACNA1S,splice_donor_variant,,ENST00000367338,;CACNA1S,splice_donor_variant,,ENST00000362061,;	.	149	294	SUCCESS
NFASC	23114	.	GRCh37	1	204945893	204945893	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768967076	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	33	91	0	ENST00000339876.6:c.1801G>T	p.Asp601Tyr	p.D601Y	ENST00000339876	NM_001005388.2	601	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS53460.1	1801	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGACCTG	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50835	.	.	ENSP00000344786	.	16/30	.	.	.	.	.	.	.	.	rs768967076,COSM1338119,COSM1338118,COSM1338120	16/30	PASS	ENST00000339876	Transcript	.	.	ENSG00000163531	29866	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	probably_damaging(0.988)	.	deleterious(0.01)	0,1,1,1	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,missense_variant,p.Asp595Tyr,ENST00000404076,;NFASC,missense_variant,p.Asp601Tyr,ENST00000403080,;NFASC,missense_variant,p.Asp601Tyr,ENST00000367170,;NFASC,missense_variant,p.Asp601Tyr,ENST00000338515,;NFASC,missense_variant,p.Asp612Tyr,ENST00000360049,;NFASC,missense_variant,p.Asp601Tyr,ENST00000401399,;NFASC,missense_variant,p.Asp612Tyr,ENST00000404907,;NFASC,missense_variant,p.Asp601Tyr,ENST00000367171,;NFASC,missense_variant,p.Asp612Tyr,ENST00000539706,;NFASC,missense_variant,p.Asp571Tyr,ENST00000367173,;NFASC,missense_variant,p.Asp601Tyr,ENST00000339876,;NFASC,missense_variant,p.Asp588Tyr,ENST00000430393,;NFASC,missense_variant,p.Asp612Tyr,ENST00000513543,;NFASC,missense_variant,p.Asp601Tyr,ENST00000367169,;NFASC,missense_variant,p.Asp601Tyr,ENST00000367172,;NFASC,missense_variant,p.Asp601Tyr,ENST00000338586,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,upstream_gene_variant,,ENST00000471392,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;NFASC,downstream_gene_variant,,ENST00000514644,;	2129	91	182	SUCCESS
LEMD1	93273	.	GRCh37	1	205353472	205353472	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	28	87	0	ENST00000367151.2:c.168T>A	p.Thr56=	p.T56=	ENST00000367151	NM_001199051.1	56	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS55679.1	291	RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTAGTGGT	NONE	.	.	hmmpanther:PTHR12019:SF2,hmmpanther:PTHR12019	.	.	ENSP00000356121	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000367153	Transcript	.	.	ENSG00000186007	18725	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LEMD1_HUMAN	LEMD1	HGNC	.	.	UPI00001D7D3A	SNV	LEMD1,synonymous_variant,p.%3D,ENST00000367153,;LEMD1,synonymous_variant,p.%3D,ENST00000367152,;LEMD1,synonymous_variant,p.%3D,ENST00000367151,;LEMD1,intron_variant,,ENST00000367154,;LEMD1,intron_variant,,ENST00000391936,;LEMD1,intron_variant,,ENST00000367149,;LEMD1-AS1,intron_variant,,ENST00000447832,;LEMD1,non_coding_transcript_exon_variant,,ENST00000476884,;LEMD1,intron_variant,,ENST00000495594,;	394	87	174	SUCCESS
SLC26A9	115019	.	GRCh37	1	205898402	205898402	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1344981323	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	121	126	0	ENST00000367135.3:c.800T>A	p.Val267Glu	p.V267E	ENST00000367135	NM_052934.3	267	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS30989.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCACCAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF17,hmmpanther:PTHR11814,TIGRFAM_domain:TIGR00815,Pfam_domain:PF00916	.	.	ENSP00000356102	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.471)	.	deleterious(0)	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,missense_variant,p.Val267Glu,ENST00000367135,;SLC26A9,missense_variant,p.Val267Glu,ENST00000340781,;SLC26A9,missense_variant,p.Val267Glu,ENST00000367134,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000469392,;SLC26A9,upstream_gene_variant,,ENST00000491127,;SLC26A9,upstream_gene_variant,,ENST00000461505,;	914	126	209	SUCCESS
CR1	1378	.	GRCh37	1	207753643	207753643	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs141954836	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	33	143	0	ENST00000367051.1:c.3645C>G	p.Asn1215Lys	p.N1215K	ENST00000367051		1215	aaC/aaG	0	.	A:0	.	A:0	.	G	N/K	protein_coding	YES	CCDS44308.1	4995	RADIA|MUSE|VARSCANS	.	GACAACTTTTC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	A:0.002	.	ENSP00000356016	A:0	30/47	.	.	.	.	.	.	.	.	rs141954836	30/47	PASS	ENST00000367049	Transcript	.	A:0.0004	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.027)	A:0	tolerated(0.7)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Asn1215Lys,ENST00000367051,;CR1,missense_variant,p.Asn1215Lys,ENST00000400960,;CR1,missense_variant,p.Asn1215Lys,ENST00000367052,;CR1,missense_variant,p.Asn1665Lys,ENST00000367049,;CR1,missense_variant,p.Asn765Lys,ENST00000534202,;CR1,missense_variant,p.Asn1215Lys,ENST00000367053,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000596003,;RP11-78B10.2,intron_variant,,ENST00000597497,;	4995	143	253	SUCCESS
VASH2	79805	.	GRCh37	1	213146157	213146157	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	9	92	0	ENST00000517399.1:c.733A>G	p.Lys245Glu	p.K245E	ENST00000517399		245	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS1511.1	601	MUTECT|MUSE	.	TCAAGAAGGTC	NONE	.	.	Pfam_domain:PF14822,hmmpanther:PTHR15750,hmmpanther:PTHR15750:SF4	.	.	ENSP00000355932	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000366965	Transcript	.	.	ENSG00000143494	25723	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.165)	.	deleterious(0)	.	VASH2_HUMAN	VASH2	HGNC	C9JY36_HUMAN	.	UPI000019273A	SNV	VASH2,missense_variant,p.Lys245Glu,ENST00000517399,;VASH2,missense_variant,p.Lys103Glu,ENST00000366964,;VASH2,missense_variant,p.Lys201Glu,ENST00000366965,;VASH2,missense_variant,p.Lys180Glu,ENST00000366966,;VASH2,missense_variant,p.Lys180Glu,ENST00000366968,;VASH2,missense_variant,p.Lys141Glu,ENST00000366967,;VASH2,non_coding_transcript_exon_variant,,ENST00000366969,;VASH2,non_coding_transcript_exon_variant,,ENST00000271776,;	911	92	134	SUCCESS
KCNK2	3776	.	GRCh37	1	215408460	215408460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	42	0	ENST00000444842.2:c.1253A>G	p.Glu418Gly	p.E418G	ENST00000444842	NM_014217.3	418	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS41467.1	1253	MUTECT|MUSE|VARSCANS	.	TGAAGAGATTG	NONE	.	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21	.	.	ENSP00000394033	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000444842	Transcript	.	.	ENSG00000082482	6277	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.045)	.	deleterious_low_confidence(0)	.	KCNK2_HUMAN	KCNK2	HGNC	C9JXY2_HUMAN,C9JDK1_HUMAN	.	UPI000013D4B8	SNV	KCNK2,missense_variant,p.Glu418Gly,ENST00000444842,;KCNK2,missense_variant,p.Glu414Gly,ENST00000391895,;KCNK2,missense_variant,p.Glu403Gly,ENST00000391894,;KCNK2,3_prime_UTR_variant,,ENST00000474771,;KCNK2,3_prime_UTR_variant,,ENST00000486921,;KCNK2,3_prime_UTR_variant,,ENST00000467031,;	1403	42	70	SUCCESS
BPNT1	10380	.	GRCh37	1	220253130	220253130	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	19	118	0	ENST00000322067.7:c.59A>T	p.Gln20Leu	p.Q20L	ENST00000322067	NM_006085.4	20	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS41469.1	59	MUTECT|MUSE|VARSCANS	.	CCTTTTGAGCA	NONE	.	.	hmmpanther:PTHR20854:SF5,hmmpanther:PTHR20854,Gene3D:3.30.540.10,Pfam_domain:PF00459,Superfamily_domains:SSF56655	.	.	ENSP00000446828	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000469520	Transcript	.	.	ENSG00000162813	1096	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.089)	.	tolerated(0.19)	.	BPNT1_HUMAN	BPNT1	HGNC	F8VVW8_HUMAN,F8VRY7_HUMAN,B4DPS5_HUMAN	.	UPI000007212C	SNV	BPNT1,missense_variant,p.Gln20Leu,ENST00000354807,;BPNT1,missense_variant,p.Gln20Leu,ENST00000469520,;BPNT1,missense_variant,p.Gln20Leu,ENST00000498237,;BPNT1,missense_variant,p.Gln20Leu,ENST00000463953,;BPNT1,missense_variant,p.Gln20Leu,ENST00000498791,;BPNT1,missense_variant,p.Gln20Leu,ENST00000322067,;BPNT1,missense_variant,p.Gln20Leu,ENST00000414869,;BPNT1,intron_variant,,ENST00000480959,;BPNT1,intron_variant,,ENST00000544404,;BPNT1,intron_variant,,ENST00000482136,;	509	118	210	SUCCESS
MIA3	375056	.	GRCh37	1	222801852	222801852	+	synonymous_variant	Silent	SNP	A	A	T	rs375042330	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	462	73	275	0	ENST00000344922.5:c.1290A>T	p.Ser430=	p.S430=	ENST00000344922	NM_198551.2	430	tcA/tcT	0	G:0.0003	.	.	.	.	T	S	protein_coding	YES	CCDS41470.1	1290	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCAGCAAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	G:0	ENSP00000340900	.	4/28	.	.	.	.	.	.	.	.	rs375042330	4/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,synonymous_variant,p.%3D,ENST00000344922,;MIA3,synonymous_variant,p.%3D,ENST00000354906,;MIA3,synonymous_variant,p.%3D,ENST00000344507,;MIA3,synonymous_variant,p.%3D,ENST00000344441,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	1315	275	536	SUCCESS
WNT3A	89780	.	GRCh37	1	228246857	228246857	+	synonymous_variant	Silent	SNP	C	C	T	rs775152425	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	16	106	0	ENST00000284523.1:c.750C>T	p.Arg250=	p.R250=	ENST00000284523	NM_033131.3	250	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1564.1	750	MUTECT|MUSE|VARSCANS	.	TCCCGCGGCTG	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF88,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000284523	.	4/4	.	.	.	.	.	.	.	.	rs775152425	4/4	PASS	ENST00000284523	Transcript	.	.	ENSG00000154342	15983	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WNT3A_HUMAN	WNT3A	HGNC	.	.	UPI000004F0E2	SNV	WNT3A,synonymous_variant,p.%3D,ENST00000284523,;WNT3A,synonymous_variant,p.%3D,ENST00000366753,;	828	106	171	SUCCESS
GJC2	57165	.	GRCh37	1	228345591	228345591	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	358	45	239	0	ENST00000366714.2:c.132G>C	p.Glu44Asp	p.E44D	ENST00000366714	NM_020435.3	44	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS1569.1	132	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAGGCCAT	NONE	.	.	hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF52,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206	.	.	ENSP00000355675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366714	Transcript	.	.	ENSG00000198835	17494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CXG2_HUMAN	GJC2	HGNC	.	.	UPI000034ECE8	SNV	GJC2,missense_variant,p.Glu44Asp,ENST00000366714,;	307	239	403	SUCCESS
OBSCN	84033	.	GRCh37	1	228521428	228521428	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs753275811	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	15	83	0	ENST00000422127.1:c.16001A>T	p.Tyr5334Phe	p.Y5334F	ENST00000422127	NM_001098623.2	5334	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS59204.1	18872	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTATATCA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	70/116	.	.	.	.	.	.	.	.	rs753275811	70/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Tyr2968Phe,ENST00000366707,;OBSCN,missense_variant,p.Tyr2453Phe,ENST00000366709,;OBSCN,missense_variant,p.Tyr5334Phe,ENST00000284548,;OBSCN,missense_variant,p.Tyr5334Phe,ENST00000422127,;OBSCN,missense_variant,p.Tyr6291Phe,ENST00000570156,;OBSCN,upstream_gene_variant,,ENST00000441106,;	18946	83	114	SUCCESS
OBSCN	84033	.	GRCh37	1	228552712	228552712	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	453	63	289	0	ENST00000422127.1:c.18872T>A	p.Leu6291His	p.L6291H	ENST00000422127	NM_001098623.2	6291	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS59204.1	21743	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCCACG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	92/116	.	.	.	.	.	.	.	.	.	92/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Leu3925His,ENST00000366707,;OBSCN,missense_variant,p.Leu908His,ENST00000441106,;OBSCN,missense_variant,p.Leu6291His,ENST00000422127,;OBSCN,missense_variant,p.Leu7248His,ENST00000570156,;OBSCN,downstream_gene_variant,,ENST00000366709,;OBSCN,downstream_gene_variant,,ENST00000284548,;OBSCN,downstream_gene_variant,,ENST00000474237,;	21817	289	516	SUCCESS
C1QC	714	.	GRCh37	1	22973727	22973727	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	12	0	ENST00000374637.1:c.189A>T	p.Pro63=	p.P63=	ENST00000374637		63	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS227.1	189	MUTECT|MUSE	.	ATCCCAGCCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF17,Pfam_domain:PF01391	.	.	ENSP00000363770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374639	Transcript	.	.	ENSG00000159189	1245	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C1QC_HUMAN	C1QC	HGNC	.	.	UPI0000126BF3	SNV	C1QC,synonymous_variant,p.%3D,ENST00000374640,;C1QC,synonymous_variant,p.%3D,ENST00000374637,;C1QC,synonymous_variant,p.%3D,ENST00000374639,;	307	12	14	SUCCESS
TRIM67	440730	.	GRCh37	1	231299389	231299389	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	34	0	ENST00000366653.5:c.674A>T	p.Gln225Leu	p.Q225L	ENST00000366653		225	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS44333.1	674	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCAGTGCG	NONE	.	.	SMART_domains:SM00336,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50119	.	.	ENSP00000355613	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.953)	.	deleterious(0.02)	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	SNV	TRIM67,missense_variant,p.Gln225Leu,ENST00000444294,;TRIM67,missense_variant,p.Gln225Leu,ENST00000366652,;TRIM67,missense_variant,p.Gln185Leu,ENST00000449018,;TRIM67,missense_variant,p.Gln225Leu,ENST00000366653,;	674	34	59	SUCCESS
LYST	1130	.	GRCh37	1	235904818	235904818	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	27	117	1	ENST00000389793.2:c.8262A>T	p.Pro2754=	p.P2754=	ENST00000389793	NM_000081.3	2754	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31062.1	8262	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGGCGA	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	31/53	.	.	.	.	.	.	.	.	.	31/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;LYST,downstream_gene_variant,,ENST00000487530,;LYST,non_coding_transcript_exon_variant,,ENST00000461526,;LYST,upstream_gene_variant,,ENST00000473037,;LDHAP2,downstream_gene_variant,,ENST00000437325,;	8437	118	196	SUCCESS
RYR2	6262	.	GRCh37	1	237551411	237551411	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	17	75	0	ENST00000366574.2:c.701T>A	p.Leu234His	p.L234H	ENST00000366574	NM_001035.2	234	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS55691.1	701	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTCAGGT	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000355533	.	10/105	.	.	.	.	.	.	.	.	.	10/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.039)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Leu218His,ENST00000542537,;RYR2,missense_variant,p.Leu234His,ENST00000366574,;RYR2,missense_variant,p.Leu232His,ENST00000360064,;	1018	75	142	SUCCESS
RYR2	6262	.	GRCh37	1	237823356	237823356	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	18	81	0	ENST00000366574.2:c.8280T>A	p.Tyr2760Ter	p.Y2760*	ENST00000366574	NM_001035.2	2760	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS55691.1	8280	RADIA|MUTECT|MUSE|VARSCANS	.	CCATATAAGCT	NONE	.	.	Pfam_domain:PF02026,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	55/105	.	.	.	.	.	.	.	.	.	55/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,stop_gained,p.Tyr2744Ter,ENST00000542537,;RYR2,stop_gained,p.Tyr2760Ter,ENST00000366574,;RYR2,stop_gained,p.Tyr2758Ter,ENST00000360064,;	8597	81	159	SUCCESS
WDR64	128025	.	GRCh37	1	241904820	241904820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs754007885	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	24	60	0	ENST00000366552.2:c.1294T>A	p.Ser432Thr	p.S432T	ENST00000366552	NM_144625.4	432	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	.	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATCTAGT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000355510	.	11/27	.	.	.	.	.	.	.	.	rs754007885	11/27	PASS	ENST00000366552	Transcript	.	.	ENSG00000162843	26570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0.01)	.	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,missense_variant,p.Ser432Thr,ENST00000437684,;WDR64,missense_variant,p.Ser432Thr,ENST00000366552,;WDR64,missense_variant,p.Ser203Thr,ENST00000414635,;WDR64,missense_variant,p.Ser432Thr,ENST00000468967,;WDR64,upstream_gene_variant,,ENST00000472717,;	1501	60	112	SUCCESS
PLCH2	9651	.	GRCh37	1	2436080	2436080	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs756051329	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	156	0	ENST00000378486.3:c.3679A>T	p.Arg1227Trp	p.R1227W	ENST00000378486	NM_014638.2	1227	Agg/Tgg	0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAAGGATG	NONE	.	.	.	.	.	ENSP00000397289	.	22/22	.	.	.	.	.	.	.	.	rs756051329	22/22	PASS	ENST00000449969	Transcript	.	.	ENSG00000149527	29037	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCH2_HUMAN	PLCH2	HGNC	.	.	UPI00006C0134	SNV	PLCH2,missense_variant,p.Arg1227Trp,ENST00000419816,;PLCH2,missense_variant,p.Arg1050Trp,ENST00000278878,;PLCH2,missense_variant,p.Arg1227Trp,ENST00000378486,;PLCH2,missense_variant,p.Arg1191Trp,ENST00000378488,;PLCH2,3_prime_UTR_variant,,ENST00000449969,;PLCH2,downstream_gene_variant,,ENST00000288766,;PANK4,downstream_gene_variant,,ENST00000435556,;PANK4,downstream_gene_variant,,ENST00000378466,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,non_coding_transcript_exon_variant,,ENST00000462379,;PLCH2,non_coding_transcript_exon_variant,,ENST00000473964,;PANK4,downstream_gene_variant,,ENST00000505228,;	4565	156	87	SUCCESS
OR2L2	26246	.	GRCh37	1	248202345	248202345	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	23	86	0	ENST00000366479.2:c.776T>A	p.Val259Glu	p.V259E	ENST00000366479	NM_001004686.2	259	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS31103.1	776	RADIA|MUTECT|MUSE|VARSCANS	.	CTATGTACGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000355435	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366479	Transcript	.	.	ENSG00000203663	8266	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.088)	.	deleterious(0)	.	OR2L2_HUMAN	OR2L2	HGNC	.	.	UPI0000061EAA	SNV	OR2L2,missense_variant,p.Val259Glu,ENST00000366479,;OR2L13,intron_variant,,ENST00000366478,;	872	86	177	SUCCESS
OR2M7	391196	.	GRCh37	1	248487043	248487043	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	220	33	141	0	ENST00000317965.2:c.828A>G	p.Val276=	p.V276=	ENST00000317965	NM_001004691.1	276	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS31111.1	828	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAATACAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000324557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317965	Transcript	.	.	ENSG00000177186	19594	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2M7_HUMAN	OR2M7	HGNC	.	.	UPI000004B236	SNV	OR2M7,synonymous_variant,p.%3D,ENST00000317965,;	857	141	253	SUCCESS
OR2G6	391211	.	GRCh37	1	248685400	248685400	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774470186	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	36	72	1	ENST00000343414.4:c.453C>A	p.Ser151Arg	p.S151R	ENST00000343414	NM_001013355.1	151	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS31119.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCGGCCT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	rs774470186,COSM3400613	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.939)	.	deleterious(0.04)	0,1	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,missense_variant,p.Ser151Arg,ENST00000343414,;	485	73	136	SUCCESS
OR14I1	401994	.	GRCh37	1	248845007	248845007	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	28	148	0	ENST00000342623.3:c.599T>A	p.Leu200Gln	p.L200Q	ENST00000342623	NM_001004734.1	200	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31125.1	599	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCAGGGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF68,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000339726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342623	Transcript	.	.	ENSG00000189181	19575	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	deleterious(0.03)	.	O14I1_HUMAN	OR14I1	HGNC	.	.	UPI0000199BC9	SNV	OR14I1,missense_variant,p.Leu200Gln,ENST00000342623,;	623	148	253	SUCCESS
LAPTM5	7805	.	GRCh37	1	31210494	31210494	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	80	0	ENST00000294507.3:c.563T>A	p.Met188Lys	p.M188K	ENST00000294507	NM_006762.2	188	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS337.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCATCATC	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00799,Pfam_domain:PF03821,hmmpanther:PTHR12479:SF2,hmmpanther:PTHR12479	.	.	ENSP00000294507	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000294507	Transcript	.	.	ENSG00000162511	29612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.401)	.	deleterious(0)	.	LAPM5_HUMAN	LAPTM5	HGNC	Q5TBB8_HUMAN	.	UPI000012E20A	SNV	LAPTM5,missense_variant,p.Met188Lys,ENST00000294507,;MIR4420,downstream_gene_variant,,ENST00000583944,;LAPTM5,non_coding_transcript_exon_variant,,ENST00000464569,;LAPTM5,downstream_gene_variant,,ENST00000476492,;	638	80	42	SUCCESS
MACF1	23499	.	GRCh37	1	39799124	39799124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	41	199	0	ENST00000372915.3:c.6879A>T	p.Leu2293Phe	p.L2293F	ENST00000372915		2293	ttA/ttT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTATCTGC	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Leu728Phe,ENST00000289893,;MACF1,missense_variant,p.Leu2288Phe,ENST00000564288,;MACF1,missense_variant,p.Leu2293Phe,ENST00000372915,;MACF1,missense_variant,p.Leu2325Phe,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	.	199	126	SUCCESS
MACF1	23499	.	GRCh37	1	39823516	39823516	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	62	0	ENST00000372915.3:c.11909A>T	p.Lys3970Met	p.K3970M	ENST00000372915		3970	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS435.1	5708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAAGGACA	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	40/94	.	.	.	.	.	.	.	.	.	40/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.473)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Lys1037Met,ENST00000372925,;MACF1,missense_variant,p.Lys1903Met,ENST00000361689,;MACF1,missense_variant,p.Lys2405Met,ENST00000289893,;MACF1,missense_variant,p.Lys3965Met,ENST00000564288,;MACF1,missense_variant,p.Lys1903Met,ENST00000539005,;MACF1,missense_variant,p.Lys3970Met,ENST00000372915,;MACF1,missense_variant,p.Lys1903Met,ENST00000317713,;MACF1,missense_variant,p.Lys4002Met,ENST00000567887,;MACF1,missense_variant,p.Lys1903Met,ENST00000545844,;MACF1,downstream_gene_variant,,ENST00000530262,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;	5816	62	44	SUCCESS
NASP	4678	.	GRCh37	1	46078849	46078861	+	frameshift_variant	Frame_Shift_Del	DEL	GGCTCAGAAGAGG	GGCTCAGAAGAGG	AGAGC	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	GGCTCAGAAGAGG	GGCTCAGAAGAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	73	0	ENST00000350030.3:c.1435_1447delinsAGAGC	p.Gly479ArgfsTer3	p.G479Rfs*3	ENST00000350030	NM_002482.3	479	GGCTCAGAAGAGGat/AGAGCat	0	.	.	.	.	.	AGAGC	GSEED/RAX	protein_coding	YES	CCDS524.1	1435-1447	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGAAGGCTCAGAAGAGGATGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15081:SF1,hmmpanther:PTHR15081	.	.	ENSP00000255120	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000350030	Transcript	.	.	ENSG00000132780	7644	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NASP_HUMAN	NASP	HGNC	Q9P1N1_HUMAN,B4DS57_HUMAN	.	UPI000012FDA0	substitution	NASP,frameshift_variant,p.Gly481ArgfsTer3,ENST00000402363,;NASP,frameshift_variant,p.Gly479ArgfsTer3,ENST00000350030,;NASP,frameshift_variant,p.Gly415ArgfsTer3,ENST00000537798,;NASP,frameshift_variant,p.Gly140ArgfsTer3,ENST00000351223,;NASP,frameshift_variant,p.Gly76ArgfsTer3,ENST00000528238,;NASP,frameshift_variant,p.Gly4ArgfsTer3,ENST00000531612,;NASP,frameshift_variant,p.Gly113ArgfsTer3,ENST00000372052,;NASP,frameshift_variant,p.Gly124ArgfsTer3,ENST00000525515,;NASP,frameshift_variant,p.Gly140ArgfsTer3,ENST00000437901,;NASP,upstream_gene_variant,,ENST00000534450,;NASP,non_coding_transcript_exon_variant,,ENST00000530073,;NASP,3_prime_UTR_variant,,ENST00000437362,;NASP,3_prime_UTR_variant,,ENST00000527359,;NASP,3_prime_UTR_variant,,ENST00000453748,;NASP,non_coding_transcript_exon_variant,,ENST00000481782,;NASP,upstream_gene_variant,,ENST00000527932,;NASP,upstream_gene_variant,,ENST00000472408,;	1522-1534	73	31	SUCCESS
NASP	4678	.	GRCh37	1	46078861	46078861	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	18	74	0	ENST00000350030.3:c.1447G>C	p.Asp483His	p.D483H	ENST00000350030	NM_002482.3	483	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS524.1	1447	SOMATICSNIPER|VARSCANS	.	AAGAGGATGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15081:SF1,hmmpanther:PTHR15081	.	.	ENSP00000255120	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000350030	Transcript	.	.	ENSG00000132780	7644	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.534)	.	deleterious(0)	.	NASP_HUMAN	NASP	HGNC	Q9P1N1_HUMAN,B4DS57_HUMAN	.	UPI000012FDA0	SNV	NASP,missense_variant,p.Asp485His,ENST00000402363,;NASP,missense_variant,p.Asp483His,ENST00000350030,;NASP,missense_variant,p.Asp419His,ENST00000537798,;NASP,missense_variant,p.Asp144His,ENST00000351223,;NASP,missense_variant,p.Asp80His,ENST00000528238,;NASP,missense_variant,p.Asp8His,ENST00000531612,;NASP,missense_variant,p.Asp117His,ENST00000372052,;NASP,missense_variant,p.Asp128His,ENST00000525515,;NASP,missense_variant,p.Asp144His,ENST00000437901,;NASP,upstream_gene_variant,,ENST00000534450,;NASP,non_coding_transcript_exon_variant,,ENST00000530073,;NASP,3_prime_UTR_variant,,ENST00000437362,;NASP,3_prime_UTR_variant,,ENST00000527359,;NASP,3_prime_UTR_variant,,ENST00000453748,;NASP,non_coding_transcript_exon_variant,,ENST00000481782,;NASP,upstream_gene_variant,,ENST00000527932,;NASP,upstream_gene_variant,,ENST00000472408,;	1534	74	23	SUCCESS
GLIS1	148979	.	GRCh37	1	53995547	53995547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	47	0	ENST00000312233.2:c.874T>A	p.Tyr292Asn	p.Y292N	ENST00000312233	NM_147193.2	292	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS582.1	874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTACGGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000309653	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000312233	Transcript	.	.	ENSG00000174332	29525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	GLIS1_HUMAN	GLIS1	HGNC	.	.	UPI000013F293	SNV	GLIS1,missense_variant,p.Tyr292Asn,ENST00000312233,;	1441	47	32	SUCCESS
C8B	732	.	GRCh37	1	57411614	57411614	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs373750492	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	152	0	ENST00000371237.4:c.985A>T	p.Ser329Cys	p.S329C	ENST00000371237	NM_000066.3	329	Agc/Tgc	0	C:0	.	.	.	.	A	S/C	protein_coding	YES	CCDS30730.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCTGTACT	NONE	byCluster	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF313,Pfam_domain:PF01823,SMART_domains:SM00457,Prints_domain:PR00764	.	C:0.0001	ENSP00000360281	.	7/12	.	.	.	.	.	.	.	.	rs373750492	7/12	PASS	ENST00000371237	Transcript	.	.	ENSG00000021852	1353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.01)	.	CO8B_HUMAN	C8B	HGNC	F5H7G1_HUMAN	.	UPI000013C9B2	SNV	C8B,missense_variant,p.Ser267Cys,ENST00000535057,;C8B,missense_variant,p.Ser277Cys,ENST00000543257,;C8B,missense_variant,p.Ser329Cys,ENST00000371237,;	1052	152	90	SUCCESS
UBE2U	148581	.	GRCh37	1	64676461	64676461	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	87	380	0	ENST00000371076.3:c.278T>A	p.Leu93Ter	p.L93*	ENST00000371076	NM_152489.1	93	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS627.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTGGACA	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF81,hmmpanther:PTHR24067,PROSITE_patterns:PS00183,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000360116	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000371076	Transcript	.	.	ENSG00000177414	28559	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE2U_HUMAN	UBE2U	HGNC	.	.	UPI000006E065	SNV	UBE2U,stop_gained,p.Leu93Ter,ENST00000371076,;UBE2U,stop_gained,p.Leu93Ter,ENST00000371077,;UBE2U,upstream_gene_variant,,ENST00000608020,;UBE2U,upstream_gene_variant,,ENST00000464349,;	522	380	242	SUCCESS
TNFRSF25	8718	.	GRCh37	1	6524732	6524732	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	88	0	ENST00000356876.3:c.343T>A	p.Cys115Ser	p.C115S	ENST00000356876	NM_003790.2	115	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS72.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACAGCGGG	NONE	.	.	Superfamily_domains:SSF57586,SMART_domains:SM00208,Gene3D:2.10.50.10,PROSITE_patterns:PS00652,hmmpanther:PTHR23097:SF104,hmmpanther:PTHR23097,PROSITE_profiles:PS50050	.	.	ENSP00000367013	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000377782	Transcript	.	.	ENSG00000215788	11910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	TNR25_HUMAN	TNFRSF25	HGNC	B3KSV7_HUMAN	.	UPI000002B5CB	SNV	TNFRSF25,missense_variant,p.Cys115Ser,ENST00000356876,;TNFRSF25,missense_variant,p.Cys70Ser,ENST00000348333,;TNFRSF25,missense_variant,p.Cys115Ser,ENST00000351959,;TNFRSF25,missense_variant,p.Cys115Ser,ENST00000377782,;TNFRSF25,5_prime_UTR_variant,,ENST00000481401,;TNFRSF25,intron_variant,,ENST00000351748,;PLEKHG5,downstream_gene_variant,,ENST00000377725,;PLEKHG5,downstream_gene_variant,,ENST00000400913,;PLEKHG5,downstream_gene_variant,,ENST00000535355,;PLEKHG5,downstream_gene_variant,,ENST00000340850,;PLEKHG5,downstream_gene_variant,,ENST00000400915,;PLEKHG5,downstream_gene_variant,,ENST00000377737,;PLEKHG5,downstream_gene_variant,,ENST00000537245,;PLEKHG5,downstream_gene_variant,,ENST00000544978,;ESPN,downstream_gene_variant,,ENST00000434576,;ESPN,downstream_gene_variant,,ENST00000416731,;ESPN,downstream_gene_variant,,ENST00000377828,;PLEKHG5,downstream_gene_variant,,ENST00000377748,;ESPN,downstream_gene_variant,,ENST00000461727,;PLEKHG5,downstream_gene_variant,,ENST00000377740,;PLEKHG5,downstream_gene_variant,,ENST00000377732,;PLEKHG5,downstream_gene_variant,,ENST00000377728,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000461703,;ESPN,downstream_gene_variant,,ENST00000468561,;TNFRSF25,upstream_gene_variant,,ENST00000475730,;ESPN,downstream_gene_variant,,ENST00000475228,;TNFRSF25,missense_variant,p.Cys115Ser,ENST00000485036,;TNFRSF25,missense_variant,p.Cys115Ser,ENST00000480393,;TNFRSF25,missense_variant,p.Cys70Ser,ENST00000502588,;TNFRSF25,missense_variant,p.Cys115Ser,ENST00000414040,;TNFRSF25,missense_variant,p.Cys115Ser,ENST00000510563,;TNFRSF25,missense_variant,p.Cys70Ser,ENST00000502730,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000515145,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000453341,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000469691,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000453260,;PLEKHG5,downstream_gene_variant,,ENST00000489097,;PLEKHG5,downstream_gene_variant,,ENST00000487949,;ESPN,downstream_gene_variant,,ENST00000477679,;TNFRSF25,upstream_gene_variant,,ENST00000473343,;	411	88	66	SUCCESS
C1orf173	0	.	GRCh37	1	75038865	75038865	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	74	0	ENST00000326665.5:c.2529A>T	p.Ala843=	p.A843=	ENST00000326665	NM_001002912.4	843	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30755.1	2529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23034	.	.	ENSP00000322609	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,synonymous_variant,p.%3D,ENST00000326665,;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	2748	74	37	SUCCESS
ZZZ3	26009	.	GRCh37	1	78098739	78098739	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs760755714	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	70	0	ENST00000370801.3:c.301A>T	p.Ile101Leu	p.I101L	ENST00000370801	NM_015534.4	101	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS677.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATAGCCT	NONE	.	.	hmmpanther:PTHR22705	.	.	ENSP00000359837	.	5/15	.	.	.	.	.	.	.	.	rs760755714	5/15	PASS	ENST00000370801	Transcript	.	.	ENSG00000036549	24523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.58)	.	ZZZ3_HUMAN	ZZZ3	HGNC	C9JUA4_HUMAN,C9J283_HUMAN	.	UPI0000074256	SNV	ZZZ3,missense_variant,p.Ile101Leu,ENST00000370801,;ZZZ3,intron_variant,,ENST00000370798,;ZZZ3,downstream_gene_variant,,ENST00000433749,;ZZZ3,downstream_gene_variant,,ENST00000414381,;ZZZ3,upstream_gene_variant,,ENST00000476275,;ZZZ3,downstream_gene_variant,,ENST00000463166,;ZZZ3,upstream_gene_variant,,ENST00000481346,;	777	70	48	SUCCESS
PTGFR	5737	.	GRCh37	1	78958823	78958823	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	129	0	ENST00000370757.3:c.395A>T	p.Glu132Val	p.E132V	ENST00000370757	NM_000959.3	132	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS686.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGAGCGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF4,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000359793	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370757	Transcript	.	.	ENSG00000122420	9600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PF2R_HUMAN	PTGFR	HGNC	.	.	UPI0000001C40	SNV	PTGFR,missense_variant,p.Glu132Val,ENST00000370757,;PTGFR,missense_variant,p.Glu132Val,ENST00000370756,;PTGFR,missense_variant,p.Glu132Val,ENST00000370758,;PTGFR,missense_variant,p.Glu132Val,ENST00000497923,;	632	129	84	SUCCESS
ABCA4	24	.	GRCh37	1	94508911	94508911	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	61	0	ENST00000370225.3:c.3171A>T	p.Glu1057Asp	p.E1057D	ENST00000370225	NM_000350.2	1057	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS747.1	3171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTTCATT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,Gene3D:3.40.50.300,Pfam_domain:PF00005,TIGRFAM_domain:TIGR01257,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000359245	.	21/50	.	.	.	.	.	.	.	.	.	21/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.26)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Glu1057Asp,ENST00000370225,;ABCA4,downstream_gene_variant,,ENST00000535735,;	3258	61	45	SUCCESS
ABCA4	24	.	GRCh37	1	94577058	94577058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	139	0	ENST00000370225.3:c.238C>A	p.Pro80Thr	p.P80T	ENST00000370225	NM_000350.2	80	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS747.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGATTGT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	3/50	.	.	.	.	.	.	.	.	.	3/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.26)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Pro80Thr,ENST00000370225,;ABCA4,missense_variant,p.Pro80Thr,ENST00000535735,;	325	139	68	SUCCESS
ANKEF1	63926	.	GRCh37	20	10033917	10033917	+	synonymous_variant	Silent	SNP	A	A	G	rs199615882	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	63	119	0	ENST00000378380.3:c.2028A>G	p.Lys676=	p.K676=	ENST00000378380	NM_198798.1	676	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS13108.1	2028	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAAGAAGA	NONE	.	.	hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1	.	.	ENSP00000367631	.	8/10	.	.	.	.	.	.	.	.	rs199615882	8/10	PASS	ENST00000378380	Transcript	.	.	ENSG00000132623	15803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKE1_HUMAN	ANKEF1	HGNC	.	.	UPI0000125B51	SNV	ANKEF1,synonymous_variant,p.%3D,ENST00000378380,;ANKEF1,synonymous_variant,p.%3D,ENST00000378392,;AL109754.1,upstream_gene_variant,,ENST00000408554,;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,non_coding_transcript_exon_variant,,ENST00000488991,;	2357	119	155	SUCCESS
SCP2D1	140856	.	GRCh37	20	18794625	18794625	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	40	189	1	ENST00000377428.2:c.166A>T	p.Arg56Trp	p.R56W	ENST00000377428	NM_178483.2	56	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS13139.1	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCAGGGAA	NONE	.	.	hmmpanther:PTHR24314:SF7,hmmpanther:PTHR24314,Gene3D:3.30.1050.10,Superfamily_domains:SSF55718	.	.	ENSP00000366645	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377428	Transcript	.	.	ENSG00000132631	16211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.85)	.	deleterious(0)	.	SCP2D_HUMAN	SCP2D1	HGNC	.	.	UPI00001285ED	SNV	SCP2D1,missense_variant,p.Arg56Trp,ENST00000377428,;C20orf78,intron_variant,,ENST00000278779,;C20orf78,upstream_gene_variant,,ENST00000463425,;	256	190	192	SUCCESS
PTPRA	5786	.	GRCh37	20	3003398	3003398	+	synonymous_variant	Silent	SNP	A	A	T	rs754299030	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	32	130	1	ENST00000380393.3:c.1392A>T	p.Thr464=	p.T464=	ENST00000380393	NM_002836.3	464	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13038.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACAGAACG	NONE	byFrequency	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	.	.	ENSP00000369756	.	20/28	.	.	.	.	.	.	.	.	rs754299030	20/28	PASS	ENST00000380393	Transcript	.	.	ENSG00000132670	9664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRA_HUMAN	PTPRA	HGNC	Q5JWG3_HUMAN,Q5JWG2_HUMAN	.	UPI000007155E	SNV	PTPRA,synonymous_variant,p.%3D,ENST00000216877,;PTPRA,synonymous_variant,p.%3D,ENST00000356147,;PTPRA,synonymous_variant,p.%3D,ENST00000425918,;PTPRA,synonymous_variant,p.%3D,ENST00000399903,;PTPRA,synonymous_variant,p.%3D,ENST00000380393,;PTPRA,synonymous_variant,p.%3D,ENST00000358719,;PTPRA,synonymous_variant,p.%3D,ENST00000318266,;	2078	131	154	SUCCESS
PDRG1	81572	.	GRCh37	20	30539689	30539689	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	36	137	0	ENST00000202017.4:c.76del	p.Asp26ThrfsTer19	p.D26Tfs*19	ENST00000202017	NM_030815.2	26	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS13194.1	76	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTGTCCGCCA	NONE	.	.	hmmpanther:PTHR21162:SF0,hmmpanther:PTHR21162,Superfamily_domains:SSF46579	.	.	ENSP00000202017	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000202017	Transcript	.	.	ENSG00000088356	16119	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDRG1_HUMAN	PDRG1	HGNC	.	.	UPI0000034E24	deletion	PDRG1,frameshift_variant,p.Asp26ThrfsTer19,ENST00000202017,;	207	137	190	SUCCESS
POFUT1	23509	.	GRCh37	20	30795714	30795714	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs755008610	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	10	0	ENST00000375749.3:c.-31C>T		p.*11*	ENST00000375749	NM_015352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13198.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCGCCGC	NONE	byFrequency	.	.	.	.	ENSP00000364902	.	1/7	.	.	.	.	.	.	.	.	rs755008610	1/7	PASS	ENST00000375749	Transcript	1	.	ENSG00000101346	14988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OFUT1_HUMAN	POFUT1	HGNC	B4DUV4_HUMAN	.	UPI0000130C42	SNV	POFUT1,5_prime_UTR_variant,,ENST00000375730,;POFUT1,5_prime_UTR_variant,,ENST00000539210,;POFUT1,5_prime_UTR_variant,,ENST00000375749,;PLAGL2,upstream_gene_variant,,ENST00000246229,;POFUT1,upstream_gene_variant,,ENST00000486717,;	32	10	21	SUCCESS
SUN5	140732	.	GRCh37	20	31572988	31572988	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	98	0	ENST00000356173.3:c.901A>T	p.Met301Leu	p.M301L	ENST00000356173	NM_080675.3	301	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS13209.1	901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATGCCCT	NONE	.	.	PROSITE_profiles:PS51469,hmmpanther:PTHR12911:SF19,hmmpanther:PTHR12911,Pfam_domain:PF07738	.	.	ENSP00000348496	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000356173	Transcript	.	.	ENSG00000167098	16252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	SUN5_HUMAN	SUN5	HGNC	.	.	UPI0000135D7C	SNV	SUN5,missense_variant,p.Met301Leu,ENST00000356173,;SUN5,missense_variant,p.Met276Leu,ENST00000375523,;	994	98	95	SUCCESS
BPIFA1	51297	.	GRCh37	20	31829908	31829908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	78	0	ENST00000354297.4:c.713T>A	p.Leu238Gln	p.L238Q	ENST00000354297	NM_130852.2	238	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13217.1	713	RADIA|MUTECT|MUSE|VARSCANS	.	CACCCTGGTGC	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Superfamily_domains:SSF55394	.	.	ENSP00000346251	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000354297	Transcript	.	.	ENSG00000198183	15749	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	BPIA1_HUMAN	BPIFA1	HGNC	A6XMV5_HUMAN	.	UPI0000048F11	SNV	BPIFA1,missense_variant,p.Leu238Gln,ENST00000375413,;BPIFA1,missense_variant,p.Leu238Gln,ENST00000375422,;BPIFA1,missense_variant,p.Leu238Gln,ENST00000354297,;	784	78	64	SUCCESS
NRSN2	80023	.	GRCh37	20	333979	333979	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	17	74	0	ENST00000382285.2:c.315A>T	p.Ala105=	p.A105=	ENST00000382285		105	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12996.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCAGCCGA	NONE	.	.	hmmpanther:PTHR14796,hmmpanther:PTHR14796:SF4,Pfam_domain:PF14927	.	.	ENSP00000371728	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382291	Transcript	.	.	ENSG00000125841	16229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRSN2_HUMAN	NRSN2	HGNC	.	.	UPI0000037BF7	SNV	NRSN2,synonymous_variant,p.%3D,ENST00000382291,;NRSN2,synonymous_variant,p.%3D,ENST00000470439,;NRSN2,synonymous_variant,p.%3D,ENST00000382285,;NRSN2,intron_variant,,ENST00000608736,;NRSN2,intron_variant,,ENST00000609179,;NRSN2,intron_variant,,ENST00000609504,;NRSN2,intron_variant,,ENST00000608875,;NRSN2,non_coding_transcript_exon_variant,,ENST00000492242,;NRSN2,intron_variant,,ENST00000608467,;	555	74	91	SUCCESS
EMILIN3	90187	.	GRCh37	20	39993757	39993757	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	67	0	ENST00000332312.3:c.208A>C	p.Ile70Leu	p.I70L	ENST00000332312	NM_052846.1	70	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS13316.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGATGCAGG	NONE	.	.	PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF2,Pfam_domain:PF07546	.	.	ENSP00000332806	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000332312	Transcript	.	.	ENSG00000183798	16123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.05)	.	EMIL3_HUMAN	EMILIN3	HGNC	Q495S5_HUMAN	.	UPI00001D82E8	SNV	EMILIN3,missense_variant,p.Ile70Leu,ENST00000332312,;LPIN3,downstream_gene_variant,,ENST00000373257,;	401	67	62	SUCCESS
CHD6	84181	.	GRCh37	20	40127977	40127977	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	37	0	ENST00000373233.3:c.873A>T	p.Ala291=	p.A291=	ENST00000373233	NM_032221.4	291	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13317.1	873	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTTGCATC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160	.	.	ENSP00000362330	.	6/37	.	.	.	.	.	.	.	.	.	6/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,synonymous_variant,p.%3D,ENST00000373233,;CHD6,synonymous_variant,p.%3D,ENST00000309279,;CHD6,synonymous_variant,p.%3D,ENST00000373222,;CHD6,upstream_gene_variant,,ENST00000440697,;CHD6,non_coding_transcript_exon_variant,,ENST00000470470,;	1051	37	55	SUCCESS
BCAS1	8537	.	GRCh37	20	52601945	52601945	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	52	146	0	ENST00000395961.3:c.1021A>T	p.Lys341Ter	p.K341*	ENST00000395961	NM_003657.2	341	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS13444.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTGGAAT	NONE	.	.	hmmpanther:PTHR15016	.	.	ENSP00000379290	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000395961	Transcript	.	.	ENSG00000064787	974	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCAS1_HUMAN	BCAS1	HGNC	.	.	UPI000013D2E2	SNV	BCAS1,stop_gained,p.Lys341Ter,ENST00000395961,;BCAS1,stop_gained,p.Lys341Ter,ENST00000371435,;BCAS1,stop_gained,p.Lys99Ter,ENST00000434986,;BCAS1,stop_gained,p.Lys60Ter,ENST00000422805,;BCAS1,stop_gained,p.Lys386Ter,ENST00000371440,;BCAS1,stop_gained,p.Lys248Ter,ENST00000448484,;	1188	146	203	SUCCESS
ZBP1	81030	.	GRCh37	20	56188317	56188317	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	66	0	ENST00000371173.3:c.572A>T	p.Gln191Leu	p.Q191L	ENST00000371173	NM_001160417.1	191	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13461.1	572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTGGCAG	NONE	.	.	hmmpanther:PTHR14966,Pfam_domain:PF12721	.	.	ENSP00000360215	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000371173	Transcript	.	.	ENSG00000124256	16176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	deleterious(0)	.	ZBP1_HUMAN	ZBP1	HGNC	.	.	UPI000013CB5B	SNV	ZBP1,missense_variant,p.Gln168Leu,ENST00000340462,;ZBP1,missense_variant,p.Gln191Leu,ENST00000343535,;ZBP1,missense_variant,p.Gln116Leu,ENST00000395822,;ZBP1,missense_variant,p.Gln191Leu,ENST00000371173,;ZBP1,missense_variant,p.Gln191Leu,ENST00000541799,;ZBP1,upstream_gene_variant,,ENST00000453793,;ZBP1,downstream_gene_variant,,ENST00000432548,;ZBP1,downstream_gene_variant,,ENST00000538947,;ZBP1,downstream_gene_variant,,ENST00000546110,;ZBP1,non_coding_transcript_exon_variant,,ENST00000461547,;ZBP1,non_coding_transcript_exon_variant,,ENST00000480037,;	750	66	77	SUCCESS
APCDD1L	164284	.	GRCh37	20	57089884	57089884	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	67	0	ENST00000371149.3:c.-121A>T		p.*41*	ENST00000371149	NM_153360.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13467.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTTGCGA	NONE	.	.	.	.	.	ENSP00000360191	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000371149	Transcript	.	.	ENSG00000198768	26892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APCDL_HUMAN	APCDD1L	HGNC	.	.	UPI000006F69F	SNV	APCDD1L,5_prime_UTR_variant,,ENST00000371149,;APCDD1L,5_prime_UTR_variant,,ENST00000425773,;APCDD1L,5_prime_UTR_variant,,ENST00000439429,;APCDD1L-AS1,upstream_gene_variant,,ENST00000420279,;APCDD1L-AS1,upstream_gene_variant,,ENST00000427140,;APCDD1L-AS1,upstream_gene_variant,,ENST00000448374,;APCDD1L-AS1,upstream_gene_variant,,ENST00000439558,;APCDD1L-AS1,upstream_gene_variant,,ENST00000427794,;APCDD1L-AS1,upstream_gene_variant,,ENST00000445984,;APCDD1L-AS1,upstream_gene_variant,,ENST00000447767,;	111	67	68	SUCCESS
LAMA5	3911	.	GRCh37	20	60909582	60909582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	107	0	ENST00000252999.3:c.2578A>T	p.Ser860Cys	p.S860C	ENST00000252999	NM_005560.4	860	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS33502.1	2578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTGCAGG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000252999	.	21/80	.	.	.	.	.	.	.	.	.	21/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Ser860Cys,ENST00000252999,;MIR4758,upstream_gene_variant,,ENST00000577688,;LAMA5,3_prime_UTR_variant,,ENST00000474128,;	2645	107	106	SUCCESS
DIDO1	11083	.	GRCh37	20	61537425	61537425	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs757663746	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	38	0	ENST00000266070.4:c.1402A>T	p.Lys468Ter	p.K468*	ENST00000266070	NM_033081.2	468	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS33506.1	1402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTTGTGCA	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	6/16	.	.	.	.	.	.	.	.	rs757663746	6/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,stop_gained,p.Lys468Ter,ENST00000354665,;DIDO1,stop_gained,p.Lys468Ter,ENST00000395340,;DIDO1,stop_gained,p.Lys468Ter,ENST00000370371,;DIDO1,stop_gained,p.Lys468Ter,ENST00000395343,;DIDO1,stop_gained,p.Lys468Ter,ENST00000266070,;DIDO1,stop_gained,p.Lys468Ter,ENST00000370368,;DIDO1,stop_gained,p.Lys468Ter,ENST00000266071,;DIDO1,stop_gained,p.Lys468Ter,ENST00000395335,;DIDO1,stop_gained,p.Lys468Ter,ENST00000370366,;	1728	38	28	SUCCESS
IGHV1OR21-1	390530	.	GRCh37	21	10862891	10862891	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	16	132	0	ENST00000559480.1:c.187G>C	p.Gly63Arg	p.G63R	ENST00000559480		63	Ggg/Cgg	0	.	.	.	.	.	C	G/R	IG_V_gene	YES	.	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGGGCTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000453358	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000559480	Transcript	.	.	ENSG00000169861	38040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	deleterious(0.03)	.	IV1U1_HUMAN	IGHV1OR21-1	HGNC	.	.	UPI000041AB26	SNV	IGHV1OR21-1,missense_variant,p.Gly63Arg,ENST00000559480,;IGHV1OR21-1,missense_variant,p.Gly63Arg,ENST00000302092,;	187	132	113	SUCCESS
LIPI	149998	.	GRCh37	21	15561665	15561665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	77	0	ENST00000344577.2:c.185T>A	p.Ile62Lys	p.I62K	ENST00000344577	NM_198996.2	62	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS13564.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTATTCTC	NONE	.	.	hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000343331	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious(0)	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,missense_variant,p.Ile41Lys,ENST00000536861,;LIPI,missense_variant,p.Ile62Lys,ENST00000344577,;LIPI,upstream_gene_variant,,ENST00000400211,;	211	78	65	SUCCESS
SAMSN1-AS1	100874190	.	GRCh37	21	15954542	15954542	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	119	0	ENST00000449214.1:n.20A>T		p.*7*	ENST00000449214		59		0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS58786.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAACTTGT	NONE	.	.	hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4	.	.	ENSP00000285670	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000285670	Transcript	.	.	ENSG00000155307	10528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious_low_confidence(0.03)	.	.	SAMSN1	HGNC	S6FRS6_HUMAN,F8WAA1_HUMAN	.	UPI000013DDFD	SNV	SAMSN1,missense_variant,p.Val59Asp,ENST00000285670,;SAMSN1-AS1,non_coding_transcript_exon_variant,,ENST00000449214,;	351	119	58	SUCCESS
JAM2	58494	.	GRCh37	21	27062287	27062287	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	67	0	ENST00000480456.1:c.241+2T>C		p.X81_splice	ENST00000480456	NM_001270407.1	81		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58787.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTAAGCA	NONE	.	.	.	.	.	ENSP00000383376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400532	Transcript	.	.	ENSG00000154721	14686	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JAM2_HUMAN	JAM2	HGNC	.	.	UPI0000035970	SNV	JAM2,splice_donor_variant,,ENST00000400532,;JAM2,splice_donor_variant,,ENST00000480456,;JAM2,splice_donor_variant,,ENST00000312957,;JAM2,intron_variant,,ENST00000425221,;JAM2,splice_donor_variant,,ENST00000460679,;FDX1P2,upstream_gene_variant,,ENST00000450769,;	.	67	30	SUCCESS
APP	351	.	GRCh37	21	27269958	27269958	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	97	0	ENST00000346798.3:c.1991A>T	p.Glu664Val	p.E664V	ENST00000346798	NM_000484.3	664	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13576.1	1991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTCCGTC	NONE	.	.	hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103	.	.	ENSP00000284981	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	tolerated(0.08)	.	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,missense_variant,p.Glu640Val,ENST00000440126,;APP,missense_variant,p.Glu233Val,ENST00000456209,;APP,missense_variant,p.Glu608Val,ENST00000359726,;APP,missense_variant,p.Glu646Val,ENST00000358918,;APP,missense_variant,p.Glu645Val,ENST00000357903,;APP,missense_variant,p.Glu664Val,ENST00000346798,;APP,missense_variant,p.Glu533Val,ENST00000354192,;APP,missense_variant,p.Glu608Val,ENST00000439274,;APP,missense_variant,p.Glu589Val,ENST00000348990,;APP,missense_variant,p.Glu554Val,ENST00000448388,;APP,non_coding_transcript_exon_variant,,ENST00000464867,;	2025	97	40	SUCCESS
PDE9A	5152	.	GRCh37	21	44192597	44192597	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	88	0	ENST00000291539.6:c.1735A>T	p.Arg579Ter	p.R579*	ENST00000291539	NM_002606.2	579	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS13690.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCAGAGAG	NONE	.	.	hmmpanther:PTHR11347:SF103,hmmpanther:PTHR11347,Gene3D:1.10.1300.10	.	.	ENSP00000291539	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000291539	Transcript	.	.	ENSG00000160191	8795	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE9A_HUMAN	PDE9A	HGNC	.	.	UPI0000127C02	SNV	PDE9A,stop_gained,p.Arg519Ter,ENST00000335512,;PDE9A,stop_gained,p.Arg452Ter,ENST00000398224,;PDE9A,stop_gained,p.Arg478Ter,ENST00000398234,;PDE9A,stop_gained,p.Arg451Ter,ENST00000539837,;PDE9A,stop_gained,p.Arg579Ter,ENST00000291539,;PDE9A,stop_gained,p.Arg451Ter,ENST00000349112,;PDE9A,stop_gained,p.Arg512Ter,ENST00000398232,;PDE9A,stop_gained,p.Arg538Ter,ENST00000398225,;PDE9A,stop_gained,p.Arg493Ter,ENST00000398236,;PDE9A,stop_gained,p.Arg445Ter,ENST00000398229,;PDE9A,stop_gained,p.Arg477Ter,ENST00000335440,;PDE9A,stop_gained,p.Arg419Ter,ENST00000398227,;PDE9A,stop_gained,p.Arg553Ter,ENST00000328862,;PDE9A,stop_gained,p.Arg526Ter,ENST00000380328,;PDE9A,non_coding_transcript_exon_variant,,ENST00000462571,;PDE9A,non_coding_transcript_exon_variant,,ENST00000495521,;PDE9A,non_coding_transcript_exon_variant,,ENST00000490803,;PDE9A,non_coding_transcript_exon_variant,,ENST00000470987,;PDE9A,non_coding_transcript_exon_variant,,ENST00000497805,;PDE9A,non_coding_transcript_exon_variant,,ENST00000468805,;PDE9A,non_coding_transcript_exon_variant,,ENST00000495343,;PDE9A,non_coding_transcript_exon_variant,,ENST00000460989,;PDE9A,non_coding_transcript_exon_variant,,ENST00000467403,;PDE9A,downstream_gene_variant,,ENST00000466472,;PDE9A,non_coding_transcript_exon_variant,,ENST00000489319,;	1795	88	52	SUCCESS
POFUT2	23275	.	GRCh37	21	46685611	46685611	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	34	0	ENST00000349485.5:c.1137-61A>G		p.*379*	ENST00000349485	NM_133635.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13719.1	.	MUTECT|MUSE	.	CAGAGTCAGGG	NONE	.	.	.	.	.	ENSP00000339613	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000349485	Transcript	.	.	ENSG00000186866	14683	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OFUT2_HUMAN	POFUT2	HGNC	B4DNV6_HUMAN	.	UPI000013E77F	SNV	POFUT2,3_prime_UTR_variant,,ENST00000331343,;POFUT2,intron_variant,,ENST00000349485,;POFUT2,downstream_gene_variant,,ENST00000451615,;POFUT2,intron_variant,,ENST00000485190,;POFUT2,intron_variant,,ENST00000471540,;POFUT2,intron_variant,,ENST00000460932,;POFUT2,downstream_gene_variant,,ENST00000493524,;POFUT2,downstream_gene_variant,,ENST00000468360,;POFUT2,downstream_gene_variant,,ENST00000463917,;POFUT2,intron_variant,,ENST00000334538,;	.	34	9	SUCCESS
CDC45	8318	.	GRCh37	22	19495303	19495303	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	94	0	ENST00000263201.1:c.971A>T	p.Gln324Leu	p.Q324L	ENST00000263201	NM_003504.4	324	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS54499.1	1067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAGGTGA	NONE	.	.	hmmpanther:PTHR10507,hmmpanther:PTHR10507:SF0,Pfam_domain:PF02724	.	.	ENSP00000405726	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000437685	Transcript	.	.	ENSG00000093009	1739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CDC45_HUMAN	CDC45	HGNC	C9K087_HUMAN	.	UPI000042153E	SNV	CDC45,missense_variant,p.Gln324Leu,ENST00000407835,;CDC45,missense_variant,p.Gln324Leu,ENST00000263201,;CDC45,missense_variant,p.Gln278Leu,ENST00000404724,;CDC45,missense_variant,p.Gln356Leu,ENST00000437685,;CDC45,non_coding_transcript_exon_variant,,ENST00000471470,;CDC45,downstream_gene_variant,,ENST00000428937,;	1145	94	59	SUCCESS
GGT5	2687	.	GRCh37	22	24629895	24629895	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	110	0	ENST00000327365.4:c.251A>T	p.Gln84Leu	p.Q84L	ENST00000327365	NM_001099781.1	84	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42990.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTGAGGG	NONE	.	.	Prints_domain:PR01210,Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF5	.	.	ENSP00000381340	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000398292	Transcript	.	.	ENSG00000099998	4260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GGT5_HUMAN	GGT5	HGNC	.	.	UPI00003B5CB9	SNV	GGT5,missense_variant,p.Gln84Leu,ENST00000398292,;GGT5,missense_variant,p.Gln84Leu,ENST00000263112,;GGT5,missense_variant,p.Gln84Leu,ENST00000327365,;GGT5,intron_variant,,ENST00000424217,;GGT5,intron_variant,,ENST00000418439,;	585	110	61	SUCCESS
PLA2G3	50487	.	GRCh37	22	31536135	31536135	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	42	0	ENST00000215885.3:c.206A>T	p.Gln69Leu	p.Q69L	ENST00000215885	NM_015715.3	69	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13889.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTGCAGC	BUFFER|p.S70A|c.208T>G|4,BUFFER|p.S70A|c.208T>G|4	.	.	hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253	.	.	ENSP00000215885	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.32)	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,missense_variant,p.Gln69Leu,ENST00000215885,;	459	42	31	SUCCESS
DEPDC5	9681	.	GRCh37	22	32293526	32293526	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	100	0	ENST00000400246.1:c.4262A>T	p.Glu1421Val	p.E1421V	ENST00000400246		1421	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS46692.1	4235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGAGGGGC	NONE	.	.	hmmpanther:PTHR13179	.	.	ENSP00000371546	.	39/42	.	.	.	.	.	.	.	.	.	39/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,missense_variant,p.Glu1399Val,ENST00000266091,;DEPDC5,missense_variant,p.Glu1390Val,ENST00000400248,;DEPDC5,missense_variant,p.Glu1412Val,ENST00000382112,;DEPDC5,missense_variant,p.Glu1421Val,ENST00000400246,;DEPDC5,missense_variant,p.Glu1421Val,ENST00000382111,;DEPDC5,missense_variant,p.Glu797Val,ENST00000433147,;DEPDC5,missense_variant,p.Glu1321Val,ENST00000535622,;DEPDC5,missense_variant,p.Glu238Val,ENST00000539165,;DEPDC5,missense_variant,p.Glu1390Val,ENST00000400249,;DEPDC5,3_prime_UTR_variant,,ENST00000382105,;DEPDC5,upstream_gene_variant,,ENST00000497340,;DEPDC5,3_prime_UTR_variant,,ENST00000448753,;	4305	100	60	SUCCESS
CSF2RB	1439	.	GRCh37	22	37318309	37318309	+	synonymous_variant	Silent	SNP	C	C	T	rs200588212	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	101	0	ENST00000403662.3:c.60C>T	p.Ser20=	p.S20=	ENST00000403662		20	agC/agT	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS13936.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGCCTGGC	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001956,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22	A:0.0069	.	ENSP00000384053	A:0	2/14	.	.	.	.	.	.	.	.	rs200588212	2/14	PASS	ENST00000403662	Transcript	.	A:0.0014	ENSG00000100368	2436	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	IL3RB_HUMAN	CSF2RB	HGNC	B0QY07_HUMAN	.	UPI0000128C9F	SNV	CSF2RB,synonymous_variant,p.%3D,ENST00000406230,;CSF2RB,synonymous_variant,p.%3D,ENST00000403662,;CSF2RB,synonymous_variant,p.%3D,ENST00000262825,;CSF2RB,upstream_gene_variant,,ENST00000536485,;CSF2RB,upstream_gene_variant,,ENST00000421539,;	282	101	70	SUCCESS
PICK1	9463	.	GRCh37	22	38461007	38461007	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	125	0	ENST00000356976.3:c.154-2A>C		p.X52_splice	ENST00000356976	NM_012407.3	52		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13965.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGGTAT	NONE	.	.	.	.	.	ENSP00000385205	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404072	Transcript	.	.	ENSG00000100151	9394	.	.	HIGH	3/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PICK1_HUMAN	PICK1	HGNC	F6VY12_HUMAN,F6V107_HUMAN,F6TII1_HUMAN	.	UPI0000131A98	SNV	PICK1,splice_acceptor_variant,,ENST00000437453,;PICK1,splice_acceptor_variant,,ENST00000435166,;PICK1,splice_acceptor_variant,,ENST00000356976,;PICK1,splice_acceptor_variant,,ENST00000424694,;PICK1,splice_acceptor_variant,,ENST00000404072,;RP5-1039K5.13,intron_variant,,ENST00000445483,;PICK1,splice_acceptor_variant,,ENST00000468288,;PICK1,splice_acceptor_variant,,ENST00000484021,;PICK1,splice_acceptor_variant,,ENST00000466374,;PICK1,splice_acceptor_variant,,ENST00000469819,;PICK1,splice_acceptor_variant,,ENST00000432756,;PICK1,splice_acceptor_variant,,ENST00000426258,;PICK1,upstream_gene_variant,,ENST00000472724,;PICK1,upstream_gene_variant,,ENST00000494434,;	.	125	62	SUCCESS
PARVB	29780	.	GRCh37	22	44547368	44547368	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	84	0	ENST00000338758.7:c.780C>A	p.Leu260=	p.L260=	ENST00000338758	NM_013327.4	260	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46724.1	879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCATCAC	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR12114:SF7,hmmpanther:PTHR12114,PROSITE_profiles:PS50021	.	.	ENSP00000384515	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000406477	Transcript	.	.	ENSG00000188677	14653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARVB_HUMAN	PARVB	HGNC	.	.	UPI000041A256	SNV	PARVB,synonymous_variant,p.%3D,ENST00000404989,;PARVB,synonymous_variant,p.%3D,ENST00000406477,;PARVB,synonymous_variant,p.%3D,ENST00000338758,;	1009	84	36	SUCCESS
IL17REL	400935	.	GRCh37	22	50439576	50439576	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	141	0	ENST00000341280.5:c.44T>A	p.Met15Lys	p.M15K	ENST00000341280		15	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS33679.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCATGGCA	NONE	.	.	.	.	.	ENSP00000374633	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000389983	Transcript	.	.	ENSG00000188263	33808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	deleterious(0)	.	I17EL_HUMAN	IL17REL	HGNC	.	.	UPI0000251EDA	SNV	IL17REL,missense_variant,p.Met15Lys,ENST00000341280,;IL17REL,missense_variant,p.Met15Lys,ENST00000389983,;	309	141	95	SUCCESS
IL18RAP	8807	.	GRCh37	2	103061692	103061692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	113	0	ENST00000264260.2:c.964A>T	p.Ile322Phe	p.I322F	ENST00000264260	NM_003853.2	322	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS2061.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCATCTTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4,PROSITE_profiles:PS50835	.	.	ENSP00000264260	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000264260	Transcript	.	.	ENSG00000115607	5989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.74)	.	I18RA_HUMAN	IL18RAP	HGNC	Q3KPE8_HUMAN,C9JLE2_HUMAN	.	UPI0000071CAF	SNV	IL18RAP,missense_variant,p.Ile180Phe,ENST00000409369,;IL18RAP,missense_variant,p.Ile322Phe,ENST00000264260,;AC007278.3,downstream_gene_variant,,ENST00000450893,;	1553	113	105	SUCCESS
SLC9A4	389015	.	GRCh37	2	103148873	103148873	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	113	0	ENST00000295269.4:c.2123A>T	p.Gln708Leu	p.Q708L	ENST00000295269	NM_001011552.3	708	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33264.1	2123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAAGAAA	NONE	.	.	hmmpanther:PTHR10110:SF103,hmmpanther:PTHR10110	.	.	ENSP00000295269	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000295269	Transcript	.	.	ENSG00000180251	11077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.11)	.	SL9A4_HUMAN	SLC9A4	HGNC	.	.	UPI000047F996	SNV	SLC9A4,missense_variant,p.Gln708Leu,ENST00000295269,;	2580	113	79	SUCCESS
RANBP2	5903	.	GRCh37	2	109347864	109347864	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	527	170	825	0	ENST00000283195.6:c.339A>T	p.Arg113Ser	p.R113S	ENST00000283195	NM_006267.4	113	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS2079.1	339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGCAAA	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000283195	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.07)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Arg113Ser,ENST00000283195,;RANBP2,3_prime_UTR_variant,,ENST00000425282,;RANBP2,non_coding_transcript_exon_variant,,ENST00000495924,;	465	825	698	SUCCESS
SH3RF3	344558	.	GRCh37	2	109964388	109964388	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	93	0	ENST00000309415.6:c.832T>A	p.Cys278Ser	p.C278S	ENST00000309415	NM_001099289.1	278	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	.	832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACTGTCTG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000309186	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Cys278Ser,ENST00000309415,;SH3RF3,missense_variant,p.Cys278Ser,ENST00000418513,;	832	93	64	SUCCESS
ANAPC1	64682	.	GRCh37	2	112630592	112630592	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	29	0	ENST00000341068.3:c.528+293T>G		p.*176*	ENST00000341068	NM_022662.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2093.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAGACTG	NONE	.	.	.	.	.	ENSP00000339109	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	MODIFIER	5/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	SNV	ANAPC1,intron_variant,,ENST00000341068,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000489177,;ANAPC1,intron_variant,,ENST00000451367,;	.	29	33	SUCCESS
PAX8	7849	.	GRCh37	2	114004421	114004421	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	128	0	ENST00000263334.5:c.101T>A	p.Ile34Asn	p.I34N	ENST00000263334		34	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS46398.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGATGCGC	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Gene3D:1.10.10.10,Pfam_domain:PF00292,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF10,PROSITE_profiles:PS51057	.	.	ENSP00000395498	.	3/12	.	.	.	.	.	.	.	.	CM065371	3/12	PASS	ENST00000429538	Transcript	.	.	ENSG00000125618	8622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	.	PAX8_HUMAN	PAX8	HGNC	R9W7C9_HUMAN	.	UPI0000071DEC	SNV	PAX8,missense_variant,p.Ile34Asn,ENST00000263334,;PAX8,missense_variant,p.Ile34Asn,ENST00000348715,;PAX8,missense_variant,p.Ile34Asn,ENST00000429538,;PAX8,missense_variant,p.Ile34Asn,ENST00000263335,;PAX8,missense_variant,p.Ile34Asn,ENST00000397647,;PAX8-AS1,intron_variant,,ENST00000436293,;PAX8-AS1,intron_variant,,ENST00000445745,;PAX8-AS1,intron_variant,,ENST00000556070,;PAX8-AS1,intron_variant,,ENST00000422956,;PAX8-AS1,intron_variant,,ENST00000333145,;PAX8-AS1,intron_variant,,ENST00000451179,;PAX8-AS1,intron_variant,,ENST00000553869,;PAX8-AS1,upstream_gene_variant,,ENST00000510859,;PAX8,non_coding_transcript_exon_variant,,ENST00000467778,;PAX8,intron_variant,,ENST00000554830,;	296	128	117	SUCCESS
IWS1	55677	.	GRCh37	2	128249661	128249661	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	98	0	ENST00000295321.4:c.1933C>T	p.Pro645Ser	p.P645S	ENST00000295321	NM_017969.2	645	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS2146.1	1933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAGGCAGCT	NONE	.	.	PROSITE_profiles:PS51319,hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908,Pfam_domain:PF08711,Gene3D:1.20.930.10,Superfamily_domains:SSF47676	.	.	ENSP00000295321	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.04)	.	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,missense_variant,p.Pro645Ser,ENST00000295321,;IWS1,3_prime_UTR_variant,,ENST00000455721,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,downstream_gene_variant,,ENST00000598065,;AC010976.2,downstream_gene_variant,,ENST00000595561,;AC010976.2,downstream_gene_variant,,ENST00000454503,;AC010976.2,downstream_gene_variant,,ENST00000596439,;	2193	98	92	SUCCESS
MYO7B	4648	.	GRCh37	2	128388833	128388833	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200195243	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	58	0	ENST00000409816.2:c.4912C>T	p.Arg1638Cys	p.R1638C	ENST00000409816		1638	Cgt/Tgt	0	T:0.0005	T:0	.	T:0.0014	.	T	R/C	protein_coding	YES	CCDS46405.1	4912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCGTGGC	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000415090	T:0	36/47	.	.	.	.	.	.	.	.	rs200195243	36/47	common_in_exac	ENST00000428314	Transcript	.	T:0.0002	ENSG00000169994	7607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	T:0	deleterious(0)	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,missense_variant,p.Arg1638Cys,ENST00000409816,;MYO7B,missense_variant,p.Arg491Cys,ENST00000409090,;MYO7B,missense_variant,p.Arg1638Cys,ENST00000389524,;MYO7B,missense_variant,p.Arg1638Cys,ENST00000428314,;RP11-286H15.1,upstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,upstream_gene_variant,,ENST00000494959,;	4965	58	63	SUCCESS
SAP130	79595	.	GRCh37	2	128747139	128747139	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	rs372682996	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	128	0	ENST00000259235.3:c.1857A>T		p.X619_splice	ENST00000259235	NM_024545.3	619	tcA/tcT	0	C:0	.	.	.	.	A	S	protein_coding	YES	CCDS54397.1	1857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTGAAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13497	.	C:0.0001	ENSP00000350333	.	13/21	.	.	.	.	.	.	.	.	rs372682996	13/21	PASS	ENST00000357702	Transcript	.	.	ENSG00000136715	29813	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP130_HUMAN	SAP130	HGNC	Q96DP1_HUMAN,C9J683_HUMAN	.	UPI00005989D6	SNV	SAP130,synonymous_variant,p.%3D,ENST00000259235,;SAP130,synonymous_variant,p.%3D,ENST00000259234,;SAP130,synonymous_variant,p.%3D,ENST00000357702,;	1989	128	96	SUCCESS
RAB6C	84084	.	GRCh37	2	130737524	130737524	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	103	0	ENST00000410061.2:c.-165T>A		p.*55*	ENST00000410061	NM_032144.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGCCCT	NONE	.	.	.	.	.	ENSP00000387307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000410061	Transcript	.	.	ENSG00000222014	16525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB6C_HUMAN	RAB6C	HGNC	.	.	UPI00001AF8C6	SNV	RAB6C,5_prime_UTR_variant,,ENST00000410061,;RAB6C-AS1,intron_variant,,ENST00000412425,;	290	103	90	SUCCESS
POTEE	445582	.	GRCh37	2	132021790	132021790	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	117	0	ENST00000356920.5:c.2762T>A	p.Leu921Gln	p.L921Q	ENST00000356920	NM_001083538.1	921	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46414.1	2762	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGGACT	NONE	.	.	hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:3.90.640.10,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000439189	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0.02)	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,missense_variant,p.Leu921Gln,ENST00000356920,;POTEE,3_prime_UTR_variant,,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	2856	117	120	SUCCESS
MCM6	4175	.	GRCh37	2	136609093	136609093	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764296916	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	56	0	ENST00000264156.2:c.1796A>T	p.Lys599Ile	p.K599I	ENST00000264156	NM_005915.5	599	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS2179.1	1796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTTATAT	NONE	.	.	hmmpanther:PTHR11630:SF73,hmmpanther:PTHR11630,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000264156	.	13/17	.	.	.	.	.	.	.	.	rs764296916	13/17	PASS	ENST00000264156	Transcript	.	.	ENSG00000076003	6949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.845)	.	deleterious(0.02)	.	MCM6_HUMAN	MCM6	HGNC	Q53T61_HUMAN,Q4ZG57_HUMAN	.	UPI0000001611	SNV	MCM6,missense_variant,p.Lys599Ile,ENST00000264156,;MCM6,non_coding_transcript_exon_variant,,ENST00000492091,;MCM6,non_coding_transcript_exon_variant,,ENST00000483902,;	1857	56	38	SUCCESS
PLA2R1	22925	.	GRCh37	2	160803186	160803186	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	82	0	ENST00000283243.7:c.3967+126T>A		p.*1323*	ENST00000283243	NM_001195641.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33309.1	.	MUTECT|MUSE	.	GCTTTAGGCTT	NONE	.	.	.	.	.	ENSP00000283243	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODIFIER	27/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,3_prime_UTR_variant,,ENST00000392771,;PLA2R1,intron_variant,,ENST00000283243,;PLA2R1,upstream_gene_variant,,ENST00000460710,;	.	82	73	SUCCESS
NOSTRIN	115677	.	GRCh37	2	169688005	169688005	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	50	233	0	ENST00000317647.7:c.366A>T	p.Thr122=	p.T122=	ENST00000317647	NM_001039724.3	122	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54415.1	366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAGCAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14167:SF22,hmmpanther:PTHR14167,Superfamily_domains:SSF103657	.	.	ENSP00000394051	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000444448	Transcript	.	.	ENSG00000163072	20203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOSTN_HUMAN	NOSTRIN	HGNC	Q53TH8_HUMAN	.	UPI00001400FD	SNV	NOSTRIN,synonymous_variant,p.%3D,ENST00000447264,;NOSTRIN,synonymous_variant,p.%3D,ENST00000444448,;NOSTRIN,synonymous_variant,p.%3D,ENST00000458381,;NOSTRIN,synonymous_variant,p.%3D,ENST00000397209,;NOSTRIN,synonymous_variant,p.%3D,ENST00000445023,;NOSTRIN,synonymous_variant,p.%3D,ENST00000397206,;NOSTRIN,synonymous_variant,p.%3D,ENST00000317647,;NOSTRIN,synonymous_variant,p.%3D,ENST00000421711,;SPC25,downstream_gene_variant,,ENST00000479309,;NOSTRIN,3_prime_UTR_variant,,ENST00000439509,;	842	233	221	SUCCESS
BBS5	129880	.	GRCh37	2	170355994	170355994	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	55	201	0	ENST00000295240.3:c.682-2A>T		p.X228_splice	ENST00000295240	NM_152384.2	228		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2233.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTAGAGTG	NONE	.	.	.	.	.	ENSP00000295240	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295240	Transcript	.	.	ENSG00000163093	970	.	.	HIGH	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS5_HUMAN	BBS5	HGNC	.	.	UPI000000DA9B	SNV	BBS5,splice_acceptor_variant,,ENST00000295240,;BBS5,splice_acceptor_variant,,ENST00000392663,;BBS5,splice_acceptor_variant,,ENST00000554017,;RP11-724O16.1,splice_acceptor_variant,,ENST00000513963,;BBS5,non_coding_transcript_exon_variant,,ENST00000472667,;BBS5,downstream_gene_variant,,ENST00000443151,;	.	201	175	SUCCESS
KLHL23	151230	.	GRCh37	2	170591706	170591706	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	75	264	0	ENST00000272797.4:c.182A>T	p.Tyr61Phe	p.Y61F	ENST00000272797	NM_001199290.1	61	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS2236.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTATTTTA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF182,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000376419	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000392647	Transcript	.	.	ENSG00000213160	27506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	KLH23_HUMAN	KLHL23	HGNC	S4R452_HUMAN,S4R3P4_HUMAN	.	UPI000006D999	SNV	KLHL23,missense_variant,p.Tyr61Phe,ENST00000392647,;KLHL23,missense_variant,p.Tyr61Phe,ENST00000272797,;KLHL23,intron_variant,,ENST00000602521,;KLHL23,intron_variant,,ENST00000498202,;KLHL23,upstream_gene_variant,,ENST00000437875,;	426	265	268	SUCCESS
DCAF17	80067	.	GRCh37	2	172300031	172300031	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	38	0	ENST00000375255.3:c.231-2A>T		p.X77_splice	ENST00000375255	NM_025000.3	77		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2243.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAGTGTT	NONE	.	.	.	.	.	ENSP00000364404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375255	Transcript	.	.	ENSG00000115827	25784	.	.	HIGH	2/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCA17_HUMAN	DCAF17	HGNC	.	.	UPI00004C429A	SNV	DCAF17,splice_acceptor_variant,,ENST00000375255,;DCAF17,splice_acceptor_variant,,ENST00000539783,;DCAF17,splice_acceptor_variant,,ENST00000495925,;DCAF17,splice_acceptor_variant,,ENST00000490217,;DCAF17,splice_acceptor_variant,,ENST00000468592,;DCAF17,splice_acceptor_variant,,ENST00000436317,;DCAF17,non_coding_transcript_exon_variant,,ENST00000480855,;	.	38	39	SUCCESS
WIPF1	7456	.	GRCh37	2	175432711	175432711	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	92	0	ENST00000359761.3:c.1220T>A	p.Val407Glu	p.V407E	ENST00000359761		407	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS2260.1	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTACTCCA	NONE	.	.	hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF30	.	.	ENSP00000376330	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000392547	Transcript	.	.	ENSG00000115935	12736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.07)	.	WIPF1_HUMAN	WIPF1	HGNC	C9JTB9_HUMAN	.	UPI000013D4BD	SNV	WIPF1,missense_variant,p.Val407Glu,ENST00000359761,;WIPF1,missense_variant,p.Val407Glu,ENST00000392547,;WIPF1,missense_variant,p.Val407Glu,ENST00000409891,;WIPF1,missense_variant,p.Val407Glu,ENST00000272746,;WIPF1,missense_variant,p.Val407Glu,ENST00000392546,;WIPF1,downstream_gene_variant,,ENST00000455428,;WIPF1,downstream_gene_variant,,ENST00000409415,;AC018890.6,intron_variant,,ENST00000412835,;AC018890.6,intron_variant,,ENST00000442996,;WIPF1,non_coding_transcript_exon_variant,,ENST00000467149,;	1320	92	60	SUCCESS
ATF2	1386	.	GRCh37	2	175939359	175939359	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	94	0	ENST00000264110.2:c.1496A>T	p.Gln499Leu	p.Q499L	ENST00000264110	NM_001256091.1	499	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2262.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACTGGGAG	NONE	.	.	hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF9,PIRSF_domain:PIRSF003153	.	.	ENSP00000264110	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000264110	Transcript	.	.	ENSG00000115966	784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious(0)	.	ATF2_HUMAN	ATF2	HGNC	F5H629_HUMAN,E9PBF9_HUMAN,B3KY57_HUMAN	.	UPI000013D4BE	SNV	ATF2,missense_variant,p.Gln481Leu,ENST00000426833,;ATF2,missense_variant,p.Gln441Leu,ENST00000345739,;ATF2,missense_variant,p.Gln138Leu,ENST00000409499,;ATF2,missense_variant,p.Gln499Leu,ENST00000392544,;ATF2,missense_variant,p.Gln120Leu,ENST00000392543,;ATF2,missense_variant,p.Gln441Leu,ENST00000409635,;ATF2,missense_variant,p.Gln499Leu,ENST00000264110,;ATF2,missense_variant,p.Gln383Leu,ENST00000409437,;ATF2,3_prime_UTR_variant,,ENST00000487334,;ATF2,3_prime_UTR_variant,,ENST00000538946,;ATF2,3_prime_UTR_variant,,ENST00000435004,;ATF2,3_prime_UTR_variant,,ENST00000415955,;ATF2,3_prime_UTR_variant,,ENST00000429579,;ATF2,3_prime_UTR_variant,,ENST00000421438,;ATF2,3_prime_UTR_variant,,ENST00000456655,;ATF2,3_prime_UTR_variant,,ENST00000417080,;ATF2,3_prime_UTR_variant,,ENST00000428760,;	1795	94	104	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098800	178098800	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	27	62	0	ENST00000397062.3:c.245A>G	p.Glu82Gly	p.E82G	ENST00000397062	NM_006164.4	82	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS42782.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTCACCT	SITE|p.E82G|c.245A>G|7,CODON|p.E82D|c.246A>C|3,CODON|p.E82D|c.246A>T|6,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81D|c.242G>A|6,BUFFER|p.G81V|c.242G>T|7,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132853,COSM1631471,COSM132962	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Glu66Gly,ENST00000423513,;NFE2L2,missense_variant,p.Glu82Gly,ENST00000397062,;NFE2L2,missense_variant,p.Glu66Gly,ENST00000446151,;NFE2L2,missense_variant,p.Glu66Gly,ENST00000588123,;NFE2L2,missense_variant,p.Glu81Gly,ENST00000586532,;NFE2L2,missense_variant,p.Glu66Gly,ENST00000421929,;NFE2L2,missense_variant,p.Glu66Gly,ENST00000464747,;NFE2L2,missense_variant,p.Glu66Gly,ENST00000448782,;NFE2L2,missense_variant,p.Glu66Gly,ENST00000397063,;NFE2L2,splice_region_variant,,ENST00000449627,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	800	62	53	SUCCESS
TTN	7273	.	GRCh37	2	179417476	179417476	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	125	0	ENST00000591111.1:c.85228T>A	p.Trp28410Arg	p.W28410R	ENST00000591111		28410	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS59435.1	90151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCAGCTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	335/363	.	.	.	.	.	.	.	.	.	335/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Trp21111Arg,ENST00000359218,;TTN,missense_variant,p.Trp28410Arg,ENST00000591111,;TTN,missense_variant,p.Trp30051Arg,ENST00000589042,;TTN,missense_variant,p.Trp21178Arg,ENST00000342175,;TTN,missense_variant,p.Trp27483Arg,ENST00000342992,;TTN,missense_variant,p.Trp20986Arg,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;	90376	125	114	SUCCESS
TTN	7273	.	GRCh37	2	179439715	179439715	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759011433	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	87	0	ENST00000591111.1:c.66221T>A	p.Val22074Asp	p.V22074D	ENST00000591111		22074	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS59435.1	71144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAACCTCT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	rs759011433	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val14775Asp,ENST00000359218,;TTN,missense_variant,p.Val22074Asp,ENST00000591111,;TTN,missense_variant,p.Val23715Asp,ENST00000589042,;TTN,missense_variant,p.Val14842Asp,ENST00000342175,;TTN,missense_variant,p.Val21147Asp,ENST00000342992,;TTN,missense_variant,p.Val14650Asp,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	71369	87	103	SUCCESS
TTN	7273	.	GRCh37	2	179575489	179575489	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	91	0	ENST00000591111.1:c.27384T>A	p.Ile9128=	p.I9128=	ENST00000591111		9128	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS59435.1	28335	RADIA|MUTECT|MUSE	.	TAACTAATCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	98/363	.	.	.	.	.	.	.	.	.	98/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	28560	91	85	SUCCESS
TTN	7273	.	GRCh37	2	179612800	179612800	+	intron_variant	Intron	SNP	A	A	T	rs142132973	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	73	0	ENST00000591111.1:c.10360+5051T>A		p.*3454*	ENST00000591111				0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS59435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CCCCTAAAGGC	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000467141	G:0	.	.	.	.	.	.	.	.	.	rs142132973,COSM1669448	.	PASS	ENST00000589042	Transcript	.	G:0.0026	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	1,1	.	.	.	G:0.0133	.	0,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Leu4776Ter,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	73	78	SUCCESS
FAM171B	165215	.	GRCh37	2	187605125	187605125	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs747728735	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	30	163	0	ENST00000304698.5:c.409A>G	p.Ile137Val	p.I137V	ENST00000304698	NM_177454.3	137	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33347.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACTATTATT	NONE	.	.	Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2	.	.	ENSP00000304108	.	2/8	.	.	.	.	.	.	.	.	rs747728735	2/8	PASS	ENST00000304698	Transcript	.	.	ENSG00000144369	29412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.74)	.	F171B_HUMAN	FAM171B	HGNC	A8K122_HUMAN	.	UPI0000161631	SNV	FAM171B,missense_variant,p.Ile137Val,ENST00000304698,;	612	163	145	SUCCESS
COL3A1	1281	.	GRCh37	2	189870090	189870090	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	110	0	ENST00000304636.3:c.2946A>T	p.Lys982Asn	p.K982N	ENST00000304636	NM_000090.3	982	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2297.1	2946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAACCAGG	BUFFER|p.G981G|c.2943G>A|4	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	41/51	.	.	.	.	.	.	.	.	COSM3425867	41/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	.	1	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Lys982Asn,ENST00000304636,;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,;	3116	110	97	SUCCESS
STAT4	6775	.	GRCh37	2	191897687	191897687	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	79	147	1	ENST00000358470.4:c.2041G>C	p.Glu681Gln	p.E681Q	ENST00000358470	NM_001243835.1	681	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS2310.1	2041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCGCAAG	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	.	.	ENSP00000376134	.	21/24	.	.	.	.	.	.	.	.	COSM3575606,COSM3664513	21/24	PASS	ENST00000392320	Transcript	.	.	ENSG00000138378	11365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.88)	.	deleterious(0.01)	1,1	STAT4_HUMAN	STAT4	HGNC	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN	.	UPI00000015F2	SNV	STAT4,missense_variant,p.Glu681Gln,ENST00000358470,;STAT4,missense_variant,p.Glu681Gln,ENST00000392320,;AC067945.4,downstream_gene_variant,,ENST00000456176,;STAT4,downstream_gene_variant,,ENST00000470708,;STAT4,non_coding_transcript_exon_variant,,ENST00000463951,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;AC067945.4,downstream_gene_variant,,ENST00000429796,;	2356	148	148	SUCCESS
IMPDH1P10	100874399	.	GRCh37	2	202002974	202002974	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	44	0	ENST00000440965.1:n.807T>C		p.*269*	ENST00000440965				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2337.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTATGACA	NONE	.	.	.	.	.	ENSP00000312455	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309955	Transcript	.	.	ENSG00000003402	1876	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CFLAR_HUMAN	CFLAR	HGNC	M0QYM0_HUMAN,C9JV51_HUMAN,C9JSU3_HUMAN,C9J4Q0_HUMAN,C9J408_HUMAN	.	UPI0000030475	SNV	CFLAR,3_prime_UTR_variant,,ENST00000395148,;CFLAR,intron_variant,,ENST00000341222,;CFLAR,intron_variant,,ENST00000494258,;CFLAR,intron_variant,,ENST00000443227,;CFLAR,intron_variant,,ENST00000340870,;CFLAR,intron_variant,,ENST00000457277,;CFLAR,intron_variant,,ENST00000341582,;CFLAR,intron_variant,,ENST00000342795,;CFLAR,intron_variant,,ENST00000355558,;CFLAR,intron_variant,,ENST00000462763,;CFLAR,intron_variant,,ENST00000479953,;CFLAR,intron_variant,,ENST00000309955,;CFLAR,intron_variant,,ENST00000440180,;CFLAR,intron_variant,,ENST00000470178,;CFLAR,intron_variant,,ENST00000423241,;RNU7-45P,upstream_gene_variant,,ENST00000459460,;CFLAR-AS1,downstream_gene_variant,,ENST00000415011,;CFLAR-AS1,downstream_gene_variant,,ENST00000474886,;CFLAR,intron_variant,,ENST00000439154,;CFLAR,intron_variant,,ENST00000461422,;CFLAR,downstream_gene_variant,,ENST00000461820,;CFLAR,upstream_gene_variant,,ENST00000474842,;CFLAR,downstream_gene_variant,,ENST00000460961,;IMPDH1P10,non_coding_transcript_exon_variant,,ENST00000440965,;	.	44	32	SUCCESS
MATN3	4148	.	GRCh37	2	20212202	20212202	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	105	207	0	ENST00000407540.3:c.191G>A	p.Gly64Glu	p.G64E	ENST00000407540	NM_002381.4	64	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS46226.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCCCGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF15,hmmpanther:PTHR22992	.	.	ENSP00000383894	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000407540	Transcript	.	.	ENSG00000132031	6909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	MATN3_HUMAN	MATN3	HGNC	.	.	UPI000012F809	SNV	MATN3,missense_variant,p.Gly64Glu,ENST00000407540,;MATN3,missense_variant,p.Gly64Glu,ENST00000421259,;	254	207	159	SUCCESS
CASP8	841	.	GRCh37	2	202131378	202131378	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	44	155	0	ENST00000358485.4:c.346A>T	p.Ser116Cys	p.S116C	ENST00000358485	NM_001080125.1	116	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS42798.1	346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAAGCAAT	NONE	.	.	PROSITE_profiles:PS50168,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF141,Pfam_domain:PF01335,Gene3D:1.10.533.10,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000351273	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000358485	Transcript	.	.	ENSG00000064012	1509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.525)	.	deleterious(0.01)	.	CASP8_HUMAN	CASP8	HGNC	E7EVN1_HUMAN,E7ETB7_HUMAN,E7EQ01_HUMAN	.	UPI0000456ECD	SNV	CASP8,missense_variant,p.Ser57Cys,ENST00000392266,;CASP8,missense_variant,p.Ser57Cys,ENST00000323492,;CASP8,missense_variant,p.Ser57Cys,ENST00000264275,;CASP8,missense_variant,p.Ser116Cys,ENST00000358485,;CASP8,missense_variant,p.Ser57Cys,ENST00000447616,;CASP8,missense_variant,p.Ser57Cys,ENST00000429881,;CASP8,missense_variant,p.Ser57Cys,ENST00000440732,;CASP8,missense_variant,p.Ser57Cys,ENST00000392259,;CASP8,missense_variant,p.Ser57Cys,ENST00000413726,;CASP8,missense_variant,p.Ser57Cys,ENST00000392258,;CASP8,missense_variant,p.Ser57Cys,ENST00000392263,;CASP8,missense_variant,p.Ser57Cys,ENST00000432109,;CASP8,missense_variant,p.Ser57Cys,ENST00000264274,;CASP8,intron_variant,,ENST00000450491,;CASP8,intron_variant,,ENST00000490412,;CASP8,3_prime_UTR_variant,,ENST00000437283,;CASP8,non_coding_transcript_exon_variant,,ENST00000471383,;CASP8,non_coding_transcript_exon_variant,,ENST00000339403,;	542	155	158	SUCCESS
FZD7	8324	.	GRCh37	2	202900427	202900427	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	78	0	ENST00000286201.1:c.1057T>A	p.Trp353Arg	p.W353R	ENST00000286201	NM_003507.1	353	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS2351.1	1057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGGTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,missense_variant,p.Trp353Arg,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	1118	78	93	SUCCESS
FZD7	8324	.	GRCh37	2	202900508	202900508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	79	0	ENST00000286201.1:c.1138T>A	p.Tyr380Asn	p.Y380N	ENST00000286201	NM_003507.1	380	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS2351.1	1138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGTACTTC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31,Pfam_domain:PF01534	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,missense_variant,p.Tyr380Asn,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	1199	79	64	SUCCESS
ICOS	29851	.	GRCh37	2	204820588	204820588	+	synonymous_variant	Silent	SNP	A	A	G	rs372256111	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	44	161	0	ENST00000316386.6:c.288A>G	p.Leu96=	p.L96=	ENST00000316386	NM_012092.3	96	ctA/ctG	0	G:0	.	.	.	.	G	L	protein_coding	YES	CCDS2363.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTATACAA	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR20904:SF0,hmmpanther:PTHR20904	.	G:0.0001	ENSP00000319476	.	2/5	.	.	.	.	.	.	.	.	rs372256111	2/5	PASS	ENST00000316386	Transcript	.	.	ENSG00000163600	5351	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICOS_HUMAN	ICOS	HGNC	Q53QY6_HUMAN	.	UPI0000031001	SNV	ICOS,synonymous_variant,p.%3D,ENST00000435193,;ICOS,synonymous_variant,p.%3D,ENST00000316386,;	355	161	157	SUCCESS
RHOB	388	.	GRCh37	2	20647467	20647467	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	32	156	0	ENST00000272233.4:c.241C>T	p.Leu81Phe	p.L81F	ENST00000272233	NM_004040.2	81	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1699.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTCTCATG	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF100,hmmpanther:PTHR24072,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540	.	.	ENSP00000272233	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000272233	Transcript	.	.	ENSG00000143878	668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.629)	.	deleterious(0.03)	.	RHOB_HUMAN	RHOB	HGNC	B4DMJ8_HUMAN	.	UPI0000021989	SNV	RHOB,missense_variant,p.Leu81Phe,ENST00000272233,;AC023137.2,upstream_gene_variant,,ENST00000448241,;	633	156	139	SUCCESS
ADAM23	8745	.	GRCh37	2	207436449	207436449	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	80	0	ENST00000264377.3:c.1567-2A>T		p.X523_splice	ENST00000264377	NM_003812.3	523		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTAGGAAT	NONE	.	.	.	.	.	ENSP00000264377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	HIGH	16/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,splice_acceptor_variant,,ENST00000374415,;ADAM23,splice_acceptor_variant,,ENST00000374416,;ADAM23,splice_acceptor_variant,,ENST00000264377,;	.	80	52	SUCCESS
MAP2	4133	.	GRCh37	2	210559831	210559831	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	212	77	313	0	ENST00000360351.4:c.2937A>T	p.Lys979Asn	p.K979N	ENST00000360351	NM_002374.3	979	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2384.1	2937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAAACTGA	NONE	.	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated_low_confidence(0.14)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Lys975Asn,ENST00000447185,;MAP2,missense_variant,p.Lys979Asn,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	3443	313	289	SUCCESS
VWC2L	402117	.	GRCh37	2	215440464	215440464	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	29	115	0	ENST00000312504.5:c.589A>T	p.Ile197Phe	p.I197F	ENST00000312504	NM_001080500.2	197	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS46509.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACATCTGT	NONE	.	.	hmmpanther:PTHR11339	.	.	ENSP00000308976	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000312504	Transcript	.	.	ENSG00000174453	37203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0.05)	.	VWC2L_HUMAN	VWC2L	HGNC	.	.	UPI00004912C1	SNV	VWC2L,missense_variant,p.Ile197Phe,ENST00000312504,;VWC2L,3_prime_UTR_variant,,ENST00000427124,;AC107218.3,intron_variant,,ENST00000437883,;AC107218.3,intron_variant,,ENST00000412896,;	1391	115	92	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218924420	218924420	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	80	0	ENST00000439871.1:n.1961A>T		p.*654*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTTGTTTA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	1961	80	81	SUCCESS
CHPF	79586	.	GRCh37	2	220405024	220405024	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	141	2	ENST00000243776.6:c.1409A>T	p.Glu470Val	p.E470V	ENST00000243776	NM_024536.5	470	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2443.1	1409	RADIA|SOMATICSNIPER|VARSCANS	.	GTGCCTCCAGC	NONE	.	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000243776	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.18)	.	deleterious(0.01)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Glu470Val,ENST00000243776,;CHPF,missense_variant,p.Glu308Val,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	1658	143	129	SUCCESS
TRIP12	9320	.	GRCh37	2	230638852	230638852	+	synonymous_variant	Silent	SNP	A	A	G	rs1232128293	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	79	0	ENST00000283943.5:c.5430T>C	p.Asp1810=	p.D1810=	ENST00000283943	NM_004238.1	1810	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS33391.1	5430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATATCCTT	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Gene3D:1c4zA02,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50237	.	.	ENSP00000283943	.	37/41	.	.	.	.	.	.	.	.	.	37/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,synonymous_variant,p.%3D,ENST00000418123,;TRIP12,non_coding_transcript_exon_variant,,ENST00000459841,;	5609	79	82	SUCCESS
TRIP12	9320	.	GRCh37	2	230663717	230663717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	95	0	ENST00000283943.5:c.3131G>T	p.Ser1044Ile	p.S1044I	ENST00000283943	NM_004238.1	1044	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS33391.1	3131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGCTTGCC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	22/41	.	.	.	.	.	.	.	.	.	22/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Ser1044Ile,ENST00000283943,;TRIP12,missense_variant,p.Ser774Ile,ENST00000389045,;TRIP12,missense_variant,p.Ser1092Ile,ENST00000389044,;TRIP12,3_prime_UTR_variant,,ENST00000543084,;TRIP12,downstream_gene_variant,,ENST00000487178,;TRIP12,upstream_gene_variant,,ENST00000461189,;	3310	96	104	SUCCESS
ALPP	250	.	GRCh37	2	233244624	233244624	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	47	234	0	ENST00000392027.2:c.635T>A	p.Leu212His	p.L212H	ENST00000392027	NM_001632.3	212	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS2490.1	635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTCATCT	NONE	.	.	hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	.	.	ENSP00000375881	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000392027	Transcript	.	.	ENSG00000163283	439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,missense_variant,p.Leu212His,ENST00000392027,;AC068134.8,non_coding_transcript_exon_variant,,ENST00000439072,;AC068134.8,intron_variant,,ENST00000441266,;ALPP,downstream_gene_variant,,ENST00000474529,;ALPP,upstream_gene_variant,,ENST00000485563,;	904	234	170	SUCCESS
ALPP	250	.	GRCh37	2	233245981	233245981	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs548731032	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	329	28	470	1	ENST00000392027.2:c.1213C>T	p.Arg405Trp	p.R405W	ENST00000392027	NM_001632.3	405	Cgg/Tgg	0	.	G:0	.	G:0.0029	.	T	R/W	protein_coding	YES	CCDS2490.1	1213	MUTECT|MUSE	.	AGGCCCGGGAC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	G:0	.	ENSP00000375881	G:0	10/11	.	.	.	.	.	.	.	.	rs548731032	10/11	PASS	ENST00000392027	Transcript	.	G:0.0004	ENSG00000163283	439	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	G:0	deleterious(0.03)	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,missense_variant,p.Arg405Trp,ENST00000392027,;AC068134.8,intron_variant,,ENST00000441266,;AC068134.8,upstream_gene_variant,,ENST00000439072,;ECEL1P2,downstream_gene_variant,,ENST00000461596,;ALPP,non_coding_transcript_exon_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;	1482	471	357	SUCCESS
ALPPL2	0	.	GRCh37	2	233274062	233274062	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	107	0	ENST00000295453.3:c.1204C>T	p.Arg402Trp	p.R402W	ENST00000295453	NM_031313.2	402	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2491.1	1204	RADIA|SOMATICSNIPER|VARSCANS	.	AGGCCCGGGAC	NONE	.	.	hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	.	.	ENSP00000295453	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000295453	Transcript	.	.	ENSG00000163286	441	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	deleterious(0.03)	.	PPBN_HUMAN	ALPPL2	HGNC	.	.	UPI000013E259	SNV	ALPPL2,missense_variant,p.Arg402Trp,ENST00000295453,;	1256	107	101	SUCCESS
ATRAID	51374	.	GRCh37	2	27438566	27438566	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	161	0	ENST00000606999.1:c.432A>T	p.Ile144=	p.I144=	ENST00000606999	NM_001170795.1	144	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1741.1	597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATAGACAA	NONE	.	.	hmmpanther:PTHR15926	.	.	ENSP00000369518	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000380171	Transcript	.	.	ENSG00000138085	24090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAID_HUMAN	ATRAID	HGNC	C9JA62_HUMAN	.	UPI0000456D96	SNV	ATRAID,synonymous_variant,p.%3D,ENST00000606999,;ATRAID,synonymous_variant,p.%3D,ENST00000405489,;ATRAID,synonymous_variant,p.%3D,ENST00000380171,;SLC5A6,upstream_gene_variant,,ENST00000432106,;SLC5A6,upstream_gene_variant,,ENST00000412471,;SLC5A6,upstream_gene_variant,,ENST00000426119,;CAD,upstream_gene_variant,,ENST00000403525,;SLC5A6,upstream_gene_variant,,ENST00000408041,;ATRAID,downstream_gene_variant,,ENST00000419744,;SLC5A6,upstream_gene_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000430186,;SLC5A6,upstream_gene_variant,,ENST00000401463,;SLC5A6,upstream_gene_variant,,ENST00000310574,;SLC5A6,upstream_gene_variant,,ENST00000414408,;CAD,upstream_gene_variant,,ENST00000264705,;SLC5A6,upstream_gene_variant,,ENST00000428518,;ATRAID,downstream_gene_variant,,ENST00000484646,;ATRAID,downstream_gene_variant,,ENST00000491220,;SLC5A6,upstream_gene_variant,,ENST00000488743,;ATRAID,upstream_gene_variant,,ENST00000472515,;SLC5A6,upstream_gene_variant,,ENST00000445802,;	774	161	128	SUCCESS
CAPN13	92291	.	GRCh37	2	30966407	30966407	+	synonymous_variant	Silent	SNP	C	C	T	rs752920214	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	91	0	ENST00000295055.8:c.1287G>A	p.Ser429=	p.S429=	ENST00000295055	NM_144575.2	429	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS46252.1	1287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAACGAGGA	NONE	byFrequency	.	hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:2.60.120.380,Pfam_domain:PF01067,Superfamily_domains:SSF49758	.	.	ENSP00000295055	.	13/23	.	.	.	.	.	.	.	.	rs752920214,COSM3972222	13/23	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,synonymous_variant,p.%3D,ENST00000534090,;CAPN13,synonymous_variant,p.%3D,ENST00000295055,;CAPN13,splice_region_variant,,ENST00000458085,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465450,;CAPN13,upstream_gene_variant,,ENST00000450650,;AC092569.2,downstream_gene_variant,,ENST00000455192,;	1464	91	85	SUCCESS
XDH	7498	.	GRCh37	2	31606664	31606664	+	synonymous_variant	Silent	SNP	T	T	A	rs754404192	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	92	0	ENST00000379416.3:c.843A>T	p.Pro281=	p.P281=	ENST00000379416	NM_000379.3	281	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1775.1	843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTGGGCA	NONE	.	.	Superfamily_domains:SSF56176,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,Gene3D:3.30.43.10,Pfam_domain:PF00941,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908,PROSITE_profiles:PS51387	.	.	ENSP00000368727	.	10/36	.	.	.	.	.	.	.	.	rs754404192	10/36	PASS	ENST00000379416	Transcript	.	.	ENSG00000158125	12805	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,synonymous_variant,p.%3D,ENST00000379416,;XDH,non_coding_transcript_exon_variant,,ENST00000476043,;XDH,non_coding_transcript_exon_variant,,ENST00000491727,;	892	92	80	SUCCESS
BIRC6	57448	.	GRCh37	2	32661167	32661167	+	synonymous_variant	Silent	SNP	A	A	T	rs188040071	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	74	0	ENST00000421745.2:c.3546A>T	p.Leu1182=	p.L1182=	ENST00000421745	NM_016252.3	1182	ctA/ctT	0	.	G:0.0008	.	G:0	.	T	L	protein_coding	YES	CCDS33175.2	3546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTATGTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	G:0	.	ENSP00000393596	G:0	15/74	.	.	.	.	.	.	.	.	rs188040071	15/74	PASS	ENST00000421745	Transcript	.	G:0.0002	ENSG00000115760	13516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,synonymous_variant,p.%3D,ENST00000444173,;BIRC6,synonymous_variant,p.%3D,ENST00000421745,;BIRC6,synonymous_variant,p.%3D,ENST00000431454,;	3680	74	75	SUCCESS
TTC27	55622	.	GRCh37	2	32858993	32858993	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	88	0	ENST00000317907.4:c.317A>T	p.Gln106Leu	p.Q106L	ENST00000317907	NM_017735.4	106	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33176.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCAGAGCA	NONE	.	.	hmmpanther:PTHR16193	.	.	ENSP00000313953	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000317907	Transcript	.	.	ENSG00000018699	25986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	TTC27_HUMAN	TTC27	HGNC	C9JVS4_HUMAN,B4DRC7_HUMAN	.	UPI0000208226	SNV	TTC27,missense_variant,p.Gln106Leu,ENST00000317907,;TTC27,missense_variant,p.Gln56Leu,ENST00000448773,;MIR4765,upstream_gene_variant,,ENST00000585007,;TTC27,intron_variant,,ENST00000454690,;	548	88	66	SUCCESS
TSSC1	0	.	GRCh37	2	3358335	3358335	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs761387020	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	54	249	0	ENST00000382125.4:c.112A>T	p.Lys38Ter	p.K38*	ENST00000382125	NM_003310.2	38	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS1651.1	112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTTAAGAG	NONE	.	.	Gene3D:2.130.10.10,hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205	.	.	ENSP00000371559	.	2/9	.	.	.	.	.	.	.	.	rs761387020	2/9	PASS	ENST00000382125	Transcript	.	.	ENSG00000032389	12383	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSSC1_HUMAN	TSSC1	HGNC	.	.	UPI000006DFE1	SNV	TSSC1,stop_gained,p.Lys38Ter,ENST00000444776,;TSSC1,stop_gained,p.Lys38Ter,ENST00000398659,;TSSC1,stop_gained,p.Lys38Ter,ENST00000382125,;TSSC1,stop_gained,p.Lys38Ter,ENST00000443925,;TSSC1,intron_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000463662,;TSSC1,stop_gained,p.Lys38Ter,ENST00000455162,;TSSC1,stop_gained,p.Lys38Ter,ENST00000406835,;TSSC1,stop_gained,p.Lys38Ter,ENST00000435721,;	305	249	194	SUCCESS
KCNG3	170850	.	GRCh37	2	42720359	42720359	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	80	0	ENST00000306078.1:c.283T>A	p.Tyr95Asn	p.Y95N	ENST00000306078	NM_133329.5	95	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS1809.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTAGAAGG	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF02214,Gene3D:3.30.710.10,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF91	.	.	ENSP00000304127	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000306078	Transcript	.	.	ENSG00000171126	18306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.21)	.	KCNG3_HUMAN	KCNG3	HGNC	.	.	UPI00000557D9	SNV	KCNG3,missense_variant,p.Tyr95Asn,ENST00000306078,;KCNG3,missense_variant,p.Tyr95Asn,ENST00000394973,;MTA3,upstream_gene_variant,,ENST00000405592,;	879	80	40	SUCCESS
SPTBN1	6711	.	GRCh37	2	54891657	54891657	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	34	114	0	ENST00000356805.4:c.6488A>T	p.Glu2163Val	p.E2163V	ENST00000356805	NM_003128.2	2163	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33198.1	6488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGAGTCCA	NONE	.	.	PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.14)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Glu2163Val,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000333896,;AC093110.3,upstream_gene_variant,,ENST00000456363,;SPTBN1,non_coding_transcript_exon_variant,,ENST00000467371,;SPTBN1,downstream_gene_variant,,ENST00000496323,;	6769	114	122	SUCCESS
TMEM17	200728	.	GRCh37	2	62733216	62733216	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199885237	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	36	129	0	ENST00000335390.5:c.49G>A	p.Ala17Thr	p.A17T	ENST00000335390	NM_198276.2	17	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS1871.1	49	RADIA|MUTECT|MUSE	.	CACGGCCCGGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13531:SF3,hmmpanther:PTHR13531	T:0.001	.	ENSP00000335094	T:0	1/4	.	.	.	.	.	.	.	.	rs199885237	1/4	PASS	ENST00000335390	Transcript	.	T:0.0002	ENSG00000186889	26623	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	T:0	tolerated(0.94)	.	TMM17_HUMAN	TMEM17	HGNC	.	.	UPI00001602DD	SNV	TMEM17,missense_variant,p.Ala17Thr,ENST00000335390,;TMEM17,non_coding_transcript_exon_variant,,ENST00000494919,;TMEM17,intron_variant,,ENST00000479763,;AC107083.1,downstream_gene_variant,,ENST00000439643,;	261	129	110	SUCCESS
GFPT1	2673	.	GRCh37	2	69585596	69585596	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	51	0	ENST00000357308.4:c.409-1G>A		p.X137_splice	ENST00000357308	NM_001244710.1	137		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58713.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCTGTAA	NONE	.	.	.	.	.	ENSP00000349860	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357308	Transcript	.	.	ENSG00000198380	4241	.	.	HIGH	5/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GFPT1_HUMAN	GFPT1	HGNC	.	.	UPI000015C8AD	SNV	GFPT1,splice_acceptor_variant,,ENST00000361060,;GFPT1,splice_acceptor_variant,,ENST00000357308,;GFPT1,splice_acceptor_variant,,ENST00000493759,;	.	51	29	SUCCESS
ZNF638	27332	.	GRCh37	2	71661921	71661921	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	259	83	438	0	ENST00000264447.4:c.5921A>T	p.Glu1974Val	p.E1974V	ENST00000264447	NM_001014972.2	1974	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS1917.1	5921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAAAGAA	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Glu914Val,ENST00000409407,;ZNF638,missense_variant,p.Glu1974Val,ENST00000409544,;ZNF638,missense_variant,p.Glu1974Val,ENST00000264447,;ZNF638,3_prime_UTR_variant,,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000483421,;ZNF638,non_coding_transcript_exon_variant,,ENST00000493576,;ZNF638,non_coding_transcript_exon_variant,,ENST00000472758,;ZNF638,non_coding_transcript_exon_variant,,ENST00000488126,;ZNF638,non_coding_transcript_exon_variant,,ENST00000461991,;ZNF638,downstream_gene_variant,,ENST00000460310,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;	6551	438	343	SUCCESS
M1AP	130951	.	GRCh37	2	74867347	74867347	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	153	0	ENST00000290536.5:c.56A>T	p.Gln19Leu	p.Q19L	ENST00000290536	NM_138804.4	19	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33229.1	56	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCTGGTCA	NONE	.	.	.	.	.	ENSP00000290536	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000290536	Transcript	.	.	ENSG00000159374	25183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	deleterious(0.01)	.	M1AP_HUMAN	M1AP	HGNC	C9JPR9_HUMAN	.	UPI0000072570	SNV	M1AP,missense_variant,p.Gln19Leu,ENST00000421985,;M1AP,missense_variant,p.Gln19Leu,ENST00000536235,;M1AP,missense_variant,p.Gln19Leu,ENST00000409585,;M1AP,missense_variant,p.Gln19Leu,ENST00000290536,;M1AP,5_prime_UTR_variant,,ENST00000358434,;M1AP,missense_variant,p.Gln19Leu,ENST00000422394,;M1AP,missense_variant,p.Gln19Leu,ENST00000438226,;	173	153	102	SUCCESS
POLR1A	25885	.	GRCh37	2	86305011	86305011	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780550096	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	48	0	ENST00000263857.6:c.1351A>T	p.Ile451Phe	p.I451F	ENST00000263857		451	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS42706.1	1351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGATGTACA	NONE	byFrequency	.	hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF00623,Gene3D:2.40.40.20,SMART_domains:SM00663,Superfamily_domains:SSF64484	.	.	ENSP00000263857	.	11/34	.	.	.	.	.	.	.	.	rs780550096	11/34	PASS	ENST00000263857	Transcript	.	.	ENSG00000068654	17264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	deleterious(0.04)	.	RPA1_HUMAN	POLR1A	HGNC	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN	.	UPI0000D7DB86	SNV	POLR1A,missense_variant,p.Ile451Phe,ENST00000409681,;POLR1A,missense_variant,p.Ile451Phe,ENST00000263857,;POLR1A,downstream_gene_variant,,ENST00000486964,;POLR1A,downstream_gene_variant,,ENST00000424089,;	1730	48	32	SUCCESS
IGKV6D-41	28869	.	GRCh37	2	90108534	90108534	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs191316044	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	80	0	ENST00000390271.2:c.5T>A	p.Val2Glu	p.V2E	ENST00000390271		2	gTg/gAg	0	.	C:0	.	C:0	.	A	V/E	IG_V_gene	YES	.	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTGTCCC	NONE	by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146	C:0.001	.	ENSP00000374806	C:0	1/2	.	.	.	.	.	.	.	.	rs191316044	1/2	PASS	ENST00000390271	Transcript	.	C:0.0002	ENSG00000211626	5838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.147)	C:0	tolerated(0.77)	.	.	IGKV6D-41	HGNC	.	.	UPI0000116D04	SNV	IGKV6D-41,missense_variant,p.Val2Glu,ENST00000390271,;	31	80	78	SUCCESS
CNGA3	1261	.	GRCh37	2	99006230	99006230	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	74	0	ENST00000272602.2:c.559A>C	p.Ile187Leu	p.I187L	ENST00000272602		187	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS2034.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTATTTGC	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0.03)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Ile191Leu,ENST00000409937,;CNGA3,missense_variant,p.Ile169Leu,ENST00000436404,;CNGA3,missense_variant,p.Ile187Leu,ENST00000393504,;CNGA3,missense_variant,p.Ile187Leu,ENST00000272602,;CNGA3,non_coding_transcript_exon_variant,,ENST00000393503,;	976	74	49	SUCCESS
ALCAM	214	.	GRCh37	3	105266289	105266289	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	204	73	319	0	ENST00000306107.5:c.1296A>T	p.Thr432=	p.T432=	ENST00000306107	NM_001627.3	432	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33810.1	1296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAATAAT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,PROSITE_profiles:PS50835	.	.	ENSP00000305988	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000306107	Transcript	.	.	ENSG00000170017	400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD166_HUMAN	ALCAM	HGNC	F5GXJ9_HUMAN	.	UPI0000209ECA	SNV	ALCAM,synonymous_variant,p.%3D,ENST00000389927,;ALCAM,synonymous_variant,p.%3D,ENST00000486979,;ALCAM,synonymous_variant,p.%3D,ENST00000465413,;ALCAM,synonymous_variant,p.%3D,ENST00000306107,;ALCAM,synonymous_variant,p.%3D,ENST00000472644,;ALCAM,downstream_gene_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000491388,;ALCAM,upstream_gene_variant,,ENST00000489178,;	1796	319	278	SUCCESS
ATG3	64422	.	GRCh37	3	112262916	112262916	+	synonymous_variant	Silent	SNP	T	T	A	rs771092993	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	267	105	416	1	ENST00000283290.5:c.381A>T	p.Thr127=	p.T127=	ENST00000283290	NM_022488.4	127	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2966.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTGTGAT	NONE	.	.	hmmpanther:PTHR12866:SF2,hmmpanther:PTHR12866,Pfam_domain:PF03986	.	.	ENSP00000283290	.	6/12	.	.	.	.	.	.	.	.	rs771092993	6/12	PASS	ENST00000283290	Transcript	.	.	ENSG00000144848	20962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG3_HUMAN	ATG3	HGNC	C9JNW8_HUMAN	.	UPI0000073DB4	SNV	ATG3,synonymous_variant,p.%3D,ENST00000492886,;ATG3,synonymous_variant,p.%3D,ENST00000402314,;ATG3,synonymous_variant,p.%3D,ENST00000283290,;ATG3,non_coding_transcript_exon_variant,,ENST00000495756,;ATG3,3_prime_UTR_variant,,ENST00000496423,;ATG3,non_coding_transcript_exon_variant,,ENST00000465980,;	816	417	373	SUCCESS
CCDC80	151887	.	GRCh37	3	112357260	112357260	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772227726	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	87	0	ENST00000206423.3:c.1493A>T	p.Gln498Leu	p.Q498L	ENST00000206423	NM_199512.1	498	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2968.1	1493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTGGGCC	NONE	.	.	hmmpanther:PTHR19325	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	rs772227726	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	tolerated(0.07)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Gln498Leu,ENST00000206423,;CCDC80,missense_variant,p.Gln498Leu,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	2447	87	70	SUCCESS
POLQ	10721	.	GRCh37	3	121186434	121186434	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	104	0	ENST00000264233.5:c.6899A>T	p.Glu2300Val	p.E2300V	ENST00000264233	NM_199420.3	2300	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS33833.1	6899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTCCATC	NONE	.	.	.	.	.	ENSP00000264233	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated(0.13)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Glu2300Val,ENST00000264233,;POLQ,non_coding_transcript_exon_variant,,ENST00000474243,;	7028	104	89	SUCCESS
POLQ	10721	.	GRCh37	3	121251989	121251989	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	211	73	366	0	ENST00000264233.5:c.808A>T	p.Asn270Tyr	p.N270Y	ENST00000264233	NM_199420.3	270	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS33833.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATTAGGAA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000264233	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Asn270Tyr,ENST00000264233,;POLQ,non_coding_transcript_exon_variant,,ENST00000488282,;	937	366	284	SUCCESS
POLQ	10721	.	GRCh37	3	121256056	121256056	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	93	206	0	ENST00000264233.5:c.632-1G>C		p.X211_splice	ENST00000264233	NM_199420.3	211		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33833.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCTAAAA	NONE	.	.	.	.	.	ENSP00000264233	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	HIGH	4/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,splice_acceptor_variant,,ENST00000264233,;POLQ,upstream_gene_variant,,ENST00000488282,;	.	206	183	SUCCESS
CASR	846	.	GRCh37	3	121981126	121981126	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs193922421	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	68	0	ENST00000490131.1:c.1244G>A	p.Arg415Gln	p.R415Q	ENST00000490131	NM_000388.3	415	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54632.1	1244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic	TTTACGGATAT	NONE	.	.	hmmpanther:PTHR24061:SF358,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000420194	.	4/7	.	.	.	.	.	.	.	.	rs193922421	4/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.955)	.	deleterious(0.01)	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,missense_variant,p.Arg415Gln,ENST00000296154,;CASR,missense_variant,p.Arg415Gln,ENST00000498619,;CASR,missense_variant,p.Arg415Gln,ENST00000490131,;CASR,downstream_gene_variant,,ENST00000490186,;	1682	68	69	SUCCESS
ALDH1L1	10840	.	GRCh37	3	125872258	125872258	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	30	0	ENST00000393434.2:c.858+29T>A		p.*286*	ENST00000393434	NM_012190.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58851.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAGGCAA	NONE	.	.	.	.	.	ENSP00000273450	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273450	Transcript	.	.	ENSG00000144908	3978	.	.	MODIFIER	7/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL1L1_HUMAN	ALDH1L1	HGNC	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN	.	UPI0000425C57	SNV	ALDH1L1,missense_variant,p.Leu121Gln,ENST00000455064,;ALDH1L1,intron_variant,,ENST00000393434,;ALDH1L1,intron_variant,,ENST00000273450,;ALDH1L1,intron_variant,,ENST00000472186,;ALDH1L1,intron_variant,,ENST00000452905,;ALDH1L1,intron_variant,,ENST00000393431,;ALDH1L1,downstream_gene_variant,,ENST00000490367,;ALDH1L1,downstream_gene_variant,,ENST00000488356,;ALDH1L1,downstream_gene_variant,,ENST00000460368,;ALDH1L1,intron_variant,,ENST00000413612,;ALDH1L1,3_prime_UTR_variant,,ENST00000493803,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000484724,;ALDH1L1,intron_variant,,ENST00000473607,;ALDH1L1,intron_variant,,ENST00000476245,;	.	30	29	SUCCESS
TPRA1	131601	.	GRCh37	3	127295719	127295719	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	38	226	0	ENST00000355552.3:c.363C>T	p.Thr121=	p.T121=	ENST00000355552	NM_001136053.2	121	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3042.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGGTGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15876,Pfam_domain:PF10160	.	.	ENSP00000347748	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000355552	Transcript	.	.	ENSG00000163870	30413	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPRA1_HUMAN	TPRA1	HGNC	C9JZ00_HUMAN,C9JVW5_HUMAN,C9JU06_HUMAN,C9J5C7_HUMAN	.	UPI00000373F2	SNV	TPRA1,synonymous_variant,p.%3D,ENST00000469111,;TPRA1,synonymous_variant,p.%3D,ENST00000450633,;TPRA1,synonymous_variant,p.%3D,ENST00000490643,;TPRA1,synonymous_variant,p.%3D,ENST00000296210,;TPRA1,synonymous_variant,p.%3D,ENST00000355552,;TPRA1,synonymous_variant,p.%3D,ENST00000489960,;TPRA1,synonymous_variant,p.%3D,ENST00000490290,;TPRA1,downstream_gene_variant,,ENST00000462228,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,synonymous_variant,p.%3D,ENST00000483868,;TPRA1,synonymous_variant,p.%3D,ENST00000393400,;	740	227	181	SUCCESS
KBTBD12	166348	.	GRCh37	3	127703119	127703119	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	102	0	ENST00000405109.1:c.1870T>A	p.Ter624LysextTer35	p.*624Kext*35	ENST00000405109		624	Taa/Aaa	0	.	.	.	.	.	A	*/K	protein_coding	YES	CCDS33848.2	1870	RADIA|MUTECT|MUSE	.	AGCACTAAGGT	NONE	.	.	.	.	.	ENSP00000385957	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000405109	Transcript	.	.	ENSG00000187715	25731	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KBTBC_HUMAN	KBTBD12	HGNC	B5MCZ4_HUMAN	.	UPI00001D802F	SNV	KBTBD12,stop_lost,p.Ter624LysextTer35,ENST00000405256,;KBTBD12,stop_lost,p.Ter624LysextTer35,ENST00000405109,;KBTBD12,stop_lost,p.Ter199LysextTer35,ENST00000343941,;KBTBD12,stop_lost,p.Ter231LysextTer35,ENST00000407609,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000476626,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000492025,;	2337	102	82	SUCCESS
KIAA1257	0	.	GRCh37	3	128696958	128696958	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	26	97	0	ENST00000265068.5:c.738A>T	p.Arg246Ser	p.R246S	ENST00000265068	NM_020741.2	246	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46905.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTCTGAC	NONE	.	.	.	.	.	ENSP00000265068	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000265068	Transcript	.	.	ENSG00000114656	29231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.06)	.	K1257_HUMAN	KIAA1257	HGNC	.	.	UPI00001C1DE3	SNV	KIAA1257,missense_variant,p.Arg134Ser,ENST00000515659,;KIAA1257,missense_variant,p.Arg246Ser,ENST00000511438,;KIAA1257,missense_variant,p.Arg246Ser,ENST00000265068,;KIAA1257,non_coding_transcript_exon_variant,,ENST00000510149,;KIAA1257,non_coding_transcript_exon_variant,,ENST00000507225,;	906	97	99	SUCCESS
TMCC1	23023	.	GRCh37	3	129373861	129373861	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	106	0	ENST00000393238.3:c.1597A>G	p.Met533Val	p.M533V	ENST00000393238	NM_001017395.3	533	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS33855.1	1597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGCTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11	.	.	ENSP00000376930	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000393238	Transcript	.	.	ENSG00000172765	29116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.03)	.	TMCC1_HUMAN	TMCC1	HGNC	Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN	.	UPI0000197B80	SNV	TMCC1,start_lost,p.Met1?,ENST00000510323,;TMCC1,missense_variant,p.Met354Val,ENST00000329333,;TMCC1,missense_variant,p.Met419Val,ENST00000426664,;TMCC1,missense_variant,p.Met209Val,ENST00000432054,;TMCC1,missense_variant,p.Met533Val,ENST00000393238,;	1938	106	88	SUCCESS
ARMC8	25852	.	GRCh37	3	138007891	138007891	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs761854872	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	135	237	0	ENST00000469044.1:c.1823G>T	p.Gly608Val	p.G608V	ENST00000469044	NM_001267041.1	608	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54646.1	1781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGGCCATT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR15651,hmmpanther:PTHR15651:SF7	.	.	ENSP00000420333	.	21/23	.	.	.	.	.	.	.	.	rs761854872	21/23	PASS	ENST00000481646	Transcript	.	.	ENSG00000114098	24999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.53)	.	ARMC8_HUMAN	ARMC8	HGNC	C9J8P8_HUMAN,C9J625_HUMAN,B7Z979_HUMAN	.	UPI000007471D	SNV	ARMC8,missense_variant,p.Gly577Val,ENST00000538260,;ARMC8,missense_variant,p.Gly541Val,ENST00000461822,;ARMC8,missense_variant,p.Gly566Val,ENST00000491704,;ARMC8,missense_variant,p.Gly608Val,ENST00000469044,;ARMC8,missense_variant,p.Gly535Val,ENST00000485396,;ARMC8,missense_variant,p.Gly598Val,ENST00000393058,;ARMC8,missense_variant,p.Gly594Val,ENST00000481646,;NME9,intron_variant,,ENST00000536478,;NME9,intron_variant,,ENST00000383180,;NME9,intron_variant,,ENST00000341790,;NME9,intron_variant,,ENST00000317876,;NME9,intron_variant,,ENST00000484930,;ARMC8,downstream_gene_variant,,ENST00000464181,;ARMC8,splice_region_variant,,ENST00000460495,;ARMC8,splice_region_variant,,ENST00000466762,;ARMC8,non_coding_transcript_exon_variant,,ENST00000494015,;NME9,intron_variant,,ENST00000492993,;	2187	237	243	SUCCESS
ESYT3	83850	.	GRCh37	3	138180931	138180931	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	59	0	ENST00000389567.4:c.798T>A	p.Asp266Glu	p.D266E	ENST00000389567	NM_031913.3	266	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS3101.2	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGTGTC	NONE	.	.	hmmpanther:PTHR10774:SF27,hmmpanther:PTHR10774	.	.	ENSP00000374218	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000389567	Transcript	.	.	ENSG00000158220	24295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.58)	.	ESYT3_HUMAN	ESYT3	HGNC	.	.	UPI0000251E45	SNV	ESYT3,missense_variant,p.Asp266Glu,ENST00000289135,;ESYT3,missense_variant,p.Asp266Glu,ENST00000389567,;ESYT3,missense_variant,p.Asp266Glu,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;	984	59	39	SUCCESS
PIK3CB	5291	.	GRCh37	3	138461564	138461564	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202220571	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	122	0	ENST00000289153.2:c.457C>T	p.Arg153Cys	p.R153C	ENST00000289153	NM_006219.2	153	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS3104.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCGCATTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	A:0	.	ENSP00000418143	A:0.001	4/23	.	.	.	.	.	.	.	.	rs202220571	4/23	PASS	ENST00000477593	Transcript	.	A:0.0002	ENSG00000051382	8976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	A:0	tolerated(0.11)	.	PK3CB_HUMAN	PIK3CB	HGNC	Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN	.	UPI0000046842	SNV	PIK3CB,missense_variant,p.Arg153Cys,ENST00000477593,;PIK3CB,missense_variant,p.Arg21Cys,ENST00000462294,;PIK3CB,missense_variant,p.Arg153Cys,ENST00000289153,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;	531	122	81	SUCCESS
SPSB4	92369	.	GRCh37	3	140785482	140785482	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	16	125	0	ENST00000310546.2:c.536T>A	p.Val179Glu	p.V179E	ENST00000310546	NM_080862.1	179	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS3115.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGTGGTGC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000311609	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000310546	Transcript	.	.	ENSG00000175093	30630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	SPSB4_HUMAN	SPSB4	HGNC	.	.	UPI00000734A4	SNV	SPSB4,missense_variant,p.Val179Glu,ENST00000310546,;SPSB4,missense_variant,p.Val2Glu,ENST00000508126,;	1280	125	91	SUCCESS
ATR	545	.	GRCh37	3	142188239	142188239	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	47	208	0	ENST00000350721.4:c.6492A>T	p.Ile2164=	p.I2164=	ENST00000350721	NM_001184.3	2164	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3124.1	6492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTATTAT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,synonymous_variant,p.%3D,ENST00000383101,;ATR,synonymous_variant,p.%3D,ENST00000350721,;ATR,synonymous_variant,p.%3D,ENST00000513291,;RP11-383G6.3,intron_variant,,ENST00000460977,;	6614	208	181	SUCCESS
ATR	545	.	GRCh37	3	142278251	142278251	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	29	147	0	ENST00000350721.4:c.1574A>T	p.Lys525Met	p.K525M	ENST00000350721	NM_001184.3	525	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS3124.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTGGAT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64	.	.	ENSP00000343741	.	7/47	.	.	.	.	.	.	.	.	.	7/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	tolerated_low_confidence(0.08)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Lys142Met,ENST00000515149,;ATR,missense_variant,p.Lys461Met,ENST00000383101,;ATR,missense_variant,p.Lys525Met,ENST00000350721,;ATR,upstream_gene_variant,,ENST00000515863,;ATR,downstream_gene_variant,,ENST00000507148,;	1696	147	109	SUCCESS
CLRN1	7401	.	GRCh37	3	150690482	150690482	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	79	0	ENST00000327047.1:c.14A>T	p.Gln5Leu	p.Q5L	ENST00000327047	NM_174878.2	5	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS56285.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGTTGG	NONE	.	.	PROSITE_profiles:PS51257,hmmpanther:PTHR31548:SF4,hmmpanther:PTHR31548	.	.	ENSP00000329158	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000328863	Transcript	.	.	ENSG00000163646	12605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	tolerated(1)	.	CLRN1_HUMAN	CLRN1	HGNC	.	.	UPI0001E43709	SNV	CLRN1,missense_variant,p.Gln5Leu,ENST00000327047,;CLRN1,missense_variant,p.Gln5Leu,ENST00000328863,;CLRN1,upstream_gene_variant,,ENST00000468836,;CLRN1-AS1,non_coding_transcript_exon_variant,,ENST00000465576,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.2,intron_variant,,ENST00000469268,;CLRN1,non_coding_transcript_exon_variant,,ENST00000472224,;	14	79	77	SUCCESS
OTOL1	131149	.	GRCh37	3	161221107	161221107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	204	76	308	0	ENST00000327928.4:c.811A>T	p.Ser271Cys	p.S271C	ENST00000327928	NM_001080440.1	271	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46948.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACAGTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF25,Pfam_domain:PF01391	.	.	ENSP00000330808	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000327928	Transcript	.	.	ENSG00000182447	34071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.19)	.	OTOL1_HUMAN	OTOL1	HGNC	.	.	UPI0000D61BA3	SNV	OTOL1,missense_variant,p.Ser271Cys,ENST00000327928,;	811	308	281	SUCCESS
SI	6476	.	GRCh37	3	164732917	164732917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	53	198	1	ENST00000264382.3:c.3993G>T	p.Trp1331Cys	p.W1331C	ENST00000264382	NM_001041.3	1331	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS3196.1	3993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCCAACA	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055	.	.	ENSP00000264382	.	33/48	.	.	.	.	.	.	.	.	.	33/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Trp1331Cys,ENST00000264382,;	4056	199	191	SUCCESS
MECOM	2122	.	GRCh37	3	168834399	168834399	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	132	0	ENST00000468789.1:c.697A>T	p.Asn233Tyr	p.N233Y	ENST00000468789	NM_001105078.3	233	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS54670.1	892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATTTAAGG	BUFFER|p.S296F|c.887C>T|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264674	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,missense_variant,p.Asn234Tyr,ENST00000472280,;MECOM,missense_variant,p.Asn233Tyr,ENST00000460814,;MECOM,missense_variant,p.Asn233Tyr,ENST00000464456,;MECOM,missense_variant,p.Asn421Tyr,ENST00000494292,;MECOM,missense_variant,p.Asn233Tyr,ENST00000468789,;MECOM,missense_variant,p.Asn234Tyr,ENST00000433243,;MECOM,missense_variant,p.Asn233Tyr,ENST00000392736,;MECOM,missense_variant,p.Asn298Tyr,ENST00000264674,;MECOM,intron_variant,,ENST00000492586,;MECOM,downstream_gene_variant,,ENST00000461430,;	1031	132	112	SUCCESS
PLD1	5337	.	GRCh37	3	171443814	171443814	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	75	0	ENST00000351298.4:c.659A>T	p.Lys220Met	p.K220M	ENST00000351298	NM_002662.4	220	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS3216.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTTTGGT	NONE	.	.	hmmpanther:PTHR18896:SF57,hmmpanther:PTHR18896,SMART_domains:SM00233,PIRSF_domain:PIRSF009376	.	.	ENSP00000342793	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000351298	Transcript	.	.	ENSG00000075651	9067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	PLD1_HUMAN	PLD1	HGNC	C9IY79_HUMAN	.	UPI0000131BDC	SNV	PLD1,missense_variant,p.Lys220Met,ENST00000356327,;PLD1,missense_variant,p.Lys220Met,ENST00000340989,;PLD1,missense_variant,p.Lys220Met,ENST00000342215,;PLD1,missense_variant,p.Lys220Met,ENST00000351298,;PLD1,non_coding_transcript_exon_variant,,ENST00000475273,;PLD1,3_prime_UTR_variant,,ENST00000440204,;PLD1,non_coding_transcript_exon_variant,,ENST00000498278,;	786	75	76	SUCCESS
EPHB3	2049	.	GRCh37	3	184290454	184290454	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	101	0	ENST00000330394.2:c.346T>A	p.Cys116Ser	p.C116S	ENST00000330394	NM_004443.3	116	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS3268.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACTGCAAC	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:2.60.120.260,Pfam_domain:PF01404,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000332118	.	3/16	.	.	.	.	.	.	.	.	COSM252493	3/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Cys116Ser,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,upstream_gene_variant,,ENST00000482987,;	798	101	91	SUCCESS
IGF2BP2	10644	.	GRCh37	3	185390424	185390424	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs368787882	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	297	101	479	0	ENST00000382199.2:c.1105A>T	p.Ser369Cys	p.S369C	ENST00000382199	NM_006548.4	369	Agc/Tgc	0	C:0	.	.	.	.	A	S/C	protein_coding	YES	CCDS3273.2	1105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCTGAGGT	NONE	byCluster	.	hmmpanther:PTHR10288:SF93,hmmpanther:PTHR10288	.	C:0.0001	ENSP00000371634	.	10/16	.	.	.	.	.	.	.	.	rs368787882	10/16	PASS	ENST00000382199	Transcript	.	.	ENSG00000073792	28867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.711)	.	deleterious(0.05)	.	IF2B2_HUMAN	IGF2BP2	HGNC	.	.	UPI000013C5B6	SNV	IGF2BP2,missense_variant,p.Ser312Cys,ENST00000421047,;IGF2BP2,missense_variant,p.Ser375Cys,ENST00000457616,;IGF2BP2,missense_variant,p.Ser369Cys,ENST00000382199,;IGF2BP2,intron_variant,,ENST00000346192,;IGF2BP2,intron_variant,,ENST00000494906,;IGF2BP2,downstream_gene_variant,,ENST00000496495,;	1201	479	398	SUCCESS
ETV5	2119	.	GRCh37	3	185797835	185797835	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs768938900	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	64	0	ENST00000306376.5:c.421C>G	p.Leu141Val	p.L141V	ENST00000306376	NM_004454.2	141	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS33906.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGAGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF166,Pfam_domain:PF04621	.	.	ENSP00000306894	.	7/13	.	.	.	.	.	.	.	.	rs768938900	7/13	PASS	ENST00000306376	Transcript	.	.	ENSG00000244405	3494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	ETV5_HUMAN	ETV5	HGNC	C9JMF0_HUMAN,C9J5A5_HUMAN,C9J0Z2_HUMAN	.	UPI000012A175	SNV	ETV5,missense_variant,p.Leu141Val,ENST00000440773,;ETV5,missense_variant,p.Leu141Val,ENST00000434744,;ETV5,missense_variant,p.Leu183Val,ENST00000537818,;ETV5,missense_variant,p.Leu141Val,ENST00000306376,;ETV5,downstream_gene_variant,,ENST00000413301,;ETV5,downstream_gene_variant,,ENST00000421809,;ETV5,downstream_gene_variant,,ENST00000422039,;ETV5-AS1,intron_variant,,ENST00000453370,;ETV5,intron_variant,,ENST00000472868,;ETV5,upstream_gene_variant,,ENST00000484223,;ETV5,upstream_gene_variant,,ENST00000489830,;	668	64	80	SUCCESS
KNG1	3827	.	GRCh37	3	186459911	186459911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	25	151	0	ENST00000265023.4:c.1726A>G	p.Ile576Val	p.I576V	ENST00000265023	NM_001102416.2	576	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43183.1	1726	RADIA|MUTECT|MUSE	.	CTCCTATATCA	NONE	.	.	hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9	.	.	ENSP00000265023	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000265023	Transcript	.	.	ENSG00000113889	6383	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.64)	.	KNG1_HUMAN	KNG1	HGNC	.	.	UPI000013D5AC	SNV	KNG1,missense_variant,p.Ile576Val,ENST00000265023,;KNG1,intron_variant,,ENST00000447445,;KNG1,intron_variant,,ENST00000287611,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,downstream_gene_variant,,ENST00000596632,;RP11-573D15.8,downstream_gene_variant,,ENST00000596329,;RP11-573D15.8,downstream_gene_variant,,ENST00000609726,;RP11-573D15.8,downstream_gene_variant,,ENST00000609652,;	1938	151	112	SUCCESS
XXYLT1	152002	.	GRCh37	3	194877312	194877312	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	75	0	ENST00000310380.6:c.653-2A>T		p.X218_splice	ENST00000310380	NM_152531.4	218		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43188.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGCGGG	NONE	.	.	.	.	.	ENSP00000309640	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310380	Transcript	.	.	ENSG00000173950	26639	.	.	HIGH	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XXLT1_HUMAN	XXYLT1	HGNC	.	.	UPI000003B10F	SNV	XXYLT1,splice_acceptor_variant,,ENST00000355729,;XXYLT1,splice_acceptor_variant,,ENST00000310380,;XXYLT1,splice_acceptor_variant,,ENST00000437101,;XXYLT1,splice_acceptor_variant,,ENST00000429994,;XXYLT1-AS2,downstream_gene_variant,,ENST00000447975,;XXYLT1-AS2,downstream_gene_variant,,ENST00000426468,;XXYLT1,splice_acceptor_variant,,ENST00000491138,;XXYLT1,upstream_gene_variant,,ENST00000473200,;XXYLT1,splice_acceptor_variant,,ENST00000418940,;	.	75	42	SUCCESS
NR1D2	9975	.	GRCh37	3	24003466	24003466	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	65	0	ENST00000312521.4:c.518-2A>T		p.X173_splice	ENST00000312521	NM_005126.4	173		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33718.1	.	MUTECT|MUSE	.	TCAATAGCTGT	NONE	.	.	.	.	.	ENSP00000310006	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000312521	Transcript	.	.	ENSG00000174738	7963	.	.	HIGH	4/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NR1D2_HUMAN	NR1D2	HGNC	.	.	UPI0000209A6C	SNV	NR1D2,splice_acceptor_variant,,ENST00000312521,;NR1D2,splice_acceptor_variant,,ENST00000492552,;NR1D2,splice_acceptor_variant,,ENST00000468700,;NR1D2,splice_acceptor_variant,,ENST00000383773,;NR1D2,upstream_gene_variant,,ENST00000472780,;	.	65	78	SUCCESS
SLC4A7	9497	.	GRCh37	3	27478916	27478916	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	50	1	ENST00000295736.5:c.364A>T	p.Arg122Ter	p.R122*	ENST00000295736	NM_003615.4	122	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS33721.1	364	RADIA|MUTECT|MUSE	.	ATCTCTGTAAC	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Gene3D:1hynR00,Superfamily_domains:SSF55804	.	.	ENSP00000295736	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000295736	Transcript	.	.	ENSG00000033867	11033	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S4A7_HUMAN	SLC4A7	HGNC	.	.	UPI0000DBEEB7	SNV	SLC4A7,stop_gained,p.Arg127Ter,ENST00000425128,;SLC4A7,stop_gained,p.Arg131Ter,ENST00000435667,;SLC4A7,stop_gained,p.Arg131Ter,ENST00000445684,;SLC4A7,stop_gained,p.Arg131Ter,ENST00000454389,;SLC4A7,stop_gained,p.Arg122Ter,ENST00000428386,;SLC4A7,stop_gained,p.Arg131Ter,ENST00000440156,;SLC4A7,stop_gained,p.Arg127Ter,ENST00000437179,;SLC4A7,stop_gained,p.Arg122Ter,ENST00000295736,;SLC4A7,stop_gained,p.Arg127Ter,ENST00000455077,;SLC4A7,stop_gained,p.Arg127Ter,ENST00000446700,;SLC4A7,stop_gained,p.Arg122Ter,ENST00000428179,;SLC4A7,5_prime_UTR_variant,,ENST00000388777,;SLC4A7,stop_gained,p.Arg127Ter,ENST00000438530,;SLC4A7,stop_gained,p.Arg127Ter,ENST00000457377,;SLC4A7,stop_gained,p.Arg127Ter,ENST00000437266,;SLC4A7,non_coding_transcript_exon_variant,,ENST00000428005,;	435	51	45	SUCCESS
PDCD6IP	10015	.	GRCh37	3	33840379	33840379	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	37	136	0	ENST00000307296.3:c.159A>T	p.Ala53=	p.A53=	ENST00000307296		53	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54561.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCAGTCGG	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23030:SF19,hmmpanther:PTHR23030,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041	.	.	ENSP00000411825	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000457054	Transcript	.	.	ENSG00000170248	8766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDC6I_HUMAN	PDCD6IP	HGNC	.	.	UPI00004121D3	SNV	PDCD6IP,synonymous_variant,p.%3D,ENST00000413073,;PDCD6IP,synonymous_variant,p.%3D,ENST00000307296,;PDCD6IP,synonymous_variant,p.%3D,ENST00000457054,;RP11-10C24.3,upstream_gene_variant,,ENST00000604982,;RP11-10C24.2,upstream_gene_variant,,ENST00000605502,;RP11-10C24.1,upstream_gene_variant,,ENST00000605513,;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000477798,;PDCD6IP,upstream_gene_variant,,ENST00000498147,;PDCD6IP,synonymous_variant,p.%3D,ENST00000435909,;PDCD6IP,synonymous_variant,p.%3D,ENST00000430877,;	314	136	126	SUCCESS
GOLGA4	2803	.	GRCh37	3	37327513	37327513	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	74	314	1	ENST00000361924.2:c.486A>T	p.Thr162=	p.T162=	ENST00000361924	NM_002078.4	162	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54564.1	552	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTTACAGCTTA	NONE	.	.	hmmpanther:PTHR19327	.	.	ENSP00000349305	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,synonymous_variant,p.%3D,ENST00000356847,;GOLGA4,synonymous_variant,p.%3D,ENST00000361924,;GOLGA4,synonymous_variant,p.%3D,ENST00000437131,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,intron_variant,,ENST00000450863,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000431105,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;GOLGA4,intron_variant,,ENST00000419177,;	851	315	291	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266103	41266103	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs121913399	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	37	141	0	ENST00000349496.5:c.100G>C	p.Gly34Arg	p.G34R	ENST00000349496	NM_001904.3	34	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS2694.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGGAATC	SITE|p.G34R|c.100G>C|19,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33C|c.98C>G|191,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,CODON|p.S33S|c.99T>C|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913399,COSM5686,COSM5684,COSM3660550	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Gly34Arg,ENST00000349496,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000426215,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396185,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000405570,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396183,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	380	141	116	SUCCESS
HHATL	57467	.	GRCh37	3	42735312	42735312	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	69	0	ENST00000310417.5:c.1047-2A>T		p.X349_splice	ENST00000310417		349		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2704.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCTGCAGG	NONE	.	.	.	.	.	ENSP00000405423	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441594	Transcript	.	.	ENSG00000010282	13242	.	.	HIGH	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HHATL_HUMAN	HHATL	HGNC	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN	.	UPI000012DC51	SNV	HHATL,splice_acceptor_variant,,ENST00000310417,;HHATL,splice_acceptor_variant,,ENST00000441594,;HHATL,intron_variant,,ENST00000426666,;HHATL,downstream_gene_variant,,ENST00000417472,;HHATL,downstream_gene_variant,,ENST00000457462,;KLHL40,downstream_gene_variant,,ENST00000287777,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000416756,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,non_coding_transcript_exon_variant,,ENST00000480939,;HHATL,non_coding_transcript_exon_variant,,ENST00000466007,;HHATL,upstream_gene_variant,,ENST00000490003,;	.	69	69	SUCCESS
CCDC13	152206	.	GRCh37	3	42751273	42751273	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	86	0	ENST00000310232.6:c.1891A>T	p.Asn631Tyr	p.N631Y	ENST00000310232	NM_144719.3	631	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS2705.1	1891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTTGTTAG	NONE	.	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	deleterious(0.02)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Asn631Tyr,ENST00000310232,;HHATL-AS1,downstream_gene_variant,,ENST00000600839,;CCDC13,non_coding_transcript_exon_variant,,ENST00000466031,;CCDC13,intron_variant,,ENST00000496027,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000472921,;	1975	86	82	SUCCESS
ZNF197	10168	.	GRCh37	3	44685446	44685446	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs543730571	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	49	194	0	ENST00000344387.4:c.2824A>T	p.Lys942Ter	p.K942*	ENST00000344387	NM_006991.3	942	Aag/Tag	0	.	G:0	.	G:0	.	T	K/*	protein_coding	YES	CCDS2717.1	2824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTAAGAGG	NONE	by1000G	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF280,PROSITE_profiles:PS50157	G:0.001	.	ENSP00000379370	G:0	5/5	.	.	.	.	.	.	.	.	rs543730571	5/5	PASS	ENST00000396058	Transcript	.	G:0.0002	ENSG00000186448	12988	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ZN197_HUMAN	ZNF197	HGNC	C9JQH5_HUMAN	.	UPI000013C317	SNV	ZNF197,stop_gained,p.Lys942Ter,ENST00000396058,;ZNF197,stop_gained,p.Lys942Ter,ENST00000344387,;ZNF197,intron_variant,,ENST00000383745,;ZNF197,intron_variant,,ENST00000383744,;ZNF35,upstream_gene_variant,,ENST00000432115,;ZNF35,upstream_gene_variant,,ENST00000542250,;ZNF35,upstream_gene_variant,,ENST00000453164,;ZNF35,upstream_gene_variant,,ENST00000396056,;ZNF35,upstream_gene_variant,,ENST00000296092,;ZNF35,upstream_gene_variant,,ENST00000415571,;ZNF35,upstream_gene_variant,,ENST00000399560,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,intron_variant,,ENST00000334075,;	2991	194	177	SUCCESS
PLXNB1	5364	.	GRCh37	3	48455080	48455080	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	94	0	ENST00000296440.6:c.4534A>T	p.Arg1512Trp	p.R1512W	ENST00000296440	NM_001130082.1	1512	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS2765.1	4534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGTACA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36	.	.	ENSP00000351338	.	23/38	.	.	.	.	.	.	.	.	.	23/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,missense_variant,p.Arg1512Trp,ENST00000358536,;PLXNB1,missense_variant,p.Arg1512Trp,ENST00000296440,;PLXNB1,missense_variant,p.Arg1329Trp,ENST00000358459,;PLXNB1,missense_variant,p.Arg123Trp,ENST00000448774,;PLXNB1,missense_variant,p.Arg1329Trp,ENST00000456774,;PLXNB1,downstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000465117,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000485535,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000473996,;PLXNB1,downstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000461261,;PLXNB1,upstream_gene_variant,,ENST00000478171,;PLXNB1,downstream_gene_variant,,ENST00000467913,;PLXNB1,upstream_gene_variant,,ENST00000483676,;PLXNB1,upstream_gene_variant,,ENST00000497627,;PLXNB1,downstream_gene_variant,,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000470525,;PLXNB1,downstream_gene_variant,,ENST00000462738,;	4804	94	82	SUCCESS
CELSR3	1951	.	GRCh37	3	48685300	48685300	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	31	0	ENST00000164024.4:c.7103A>T	p.Gln2368Leu	p.Q2368L	ENST00000164024	NM_001407.2	2368	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2775.1	7103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTGGGAA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12003,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	.	ENSP00000164024	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.17)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Gln2373Leu,ENST00000544264,;CELSR3,missense_variant,p.Gln2368Leu,ENST00000164024,;MIR4793,upstream_gene_variant,,ENST00000577502,;CELSR3,upstream_gene_variant,,ENST00000461362,;CELSR3,upstream_gene_variant,,ENST00000498057,;	7384	31	35	SUCCESS
ARIH2	10425	.	GRCh37	3	49006053	49006053	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	62	0	ENST00000356401.4:c.625A>C	p.Lys209Gln	p.K209Q	ENST00000356401	NM_006321.2	209	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS2780.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGAAATAC	NONE	.	.	hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF117,Gene3D:3.30.40.10,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850,Superfamily_domains:SSF57850	.	.	ENSP00000348769	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000356401	Transcript	.	.	ENSG00000177479	690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.455)	.	deleterious(0.01)	.	ARI2_HUMAN	ARIH2	HGNC	Q6IBL8_HUMAN,C9JZ71_HUMAN,C9JCL4_HUMAN,C9JBC5_HUMAN,C9JAU2_HUMAN	.	UPI0000125EDA	SNV	ARIH2,missense_variant,p.Lys209Gln,ENST00000356401,;ARIH2,missense_variant,p.Lys209Gln,ENST00000449376,;ARIH2,downstream_gene_variant,,ENST00000430423,;ARIH2,non_coding_transcript_exon_variant,,ENST00000483333,;ARIH2,non_coding_transcript_exon_variant,,ENST00000465217,;ARIH2,non_coding_transcript_exon_variant,,ENST00000474936,;ARIH2,non_coding_transcript_exon_variant,,ENST00000490095,;ARIH2,non_coding_transcript_exon_variant,,ENST00000459976,;ARIH2,non_coding_transcript_exon_variant,,ENST00000498314,;ARIH2,intron_variant,,ENST00000495761,;ARIH2,downstream_gene_variant,,ENST00000482427,;ARIH2,downstream_gene_variant,,ENST00000486316,;ARIH2,downstream_gene_variant,,ENST00000484999,;ARIH2,downstream_gene_variant,,ENST00000478224,;ARIH2,downstream_gene_variant,,ENST00000472640,;ARIH2,downstream_gene_variant,,ENST00000488963,;ARIH2,downstream_gene_variant,,ENST00000474618,;ARIH2,3_prime_UTR_variant,,ENST00000452385,;ARIH2,non_coding_transcript_exon_variant,,ENST00000482342,;ARIH2,upstream_gene_variant,,ENST00000469038,;	964	62	49	SUCCESS
QRICH1	54870	.	GRCh37	3	49070097	49070097	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	71	0	ENST00000357496.2:c.2005C>T	p.Arg669Trp	p.R669W	ENST00000357496	NM_017730.2	669	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS2787.1	2005	MUTECT|MUSE	.	GTACCGGATAC	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25,Pfam_domain:PF12012	.	.	ENSP00000378830	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000395443	Transcript	.	.	ENSG00000198218	24713	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	QRIC1_HUMAN	QRICH1	HGNC	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN	.	UPI0000209C85	SNV	QRICH1,missense_variant,p.Arg669Trp,ENST00000424300,;QRICH1,missense_variant,p.Arg669Trp,ENST00000357496,;QRICH1,missense_variant,p.Arg669Trp,ENST00000395443,;IMPDH2,upstream_gene_variant,,ENST00000326739,;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;RP13-131K19.6,downstream_gene_variant,,ENST00000607245,;QRICH1,non_coding_transcript_exon_variant,,ENST00000477021,;QRICH1,downstream_gene_variant,,ENST00000479449,;QRICH1,non_coding_transcript_exon_variant,,ENST00000469910,;QRICH1,non_coding_transcript_exon_variant,,ENST00000489642,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498392,;QRICH1,downstream_gene_variant,,ENST00000498440,;IMPDH2,upstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000462980,;	2478	71	66	SUCCESS
DAG1	1605	.	GRCh37	3	49570032	49570032	+	synonymous_variant	Silent	SNP	A	A	T	rs776596147	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	81	0	ENST00000308775.2:c.2088A>T	p.Leu696=	p.L696=	ENST00000308775	NM_001177639.2	696	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2799.1	2088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTAGAGCC	NONE	.	.	PROSITE_profiles:PS51699,hmmpanther:PTHR21559,Pfam_domain:PF05454	.	.	ENSP00000442600	.	6/6	.	.	.	.	.	.	.	.	rs776596147	6/6	PASS	ENST00000545947	Transcript	.	.	ENSG00000173402	2666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAG1_HUMAN	DAG1	HGNC	C9JYS1_HUMAN,C9JY76_HUMAN,C9JQL4_HUMAN,C9JEN1_HUMAN,C9JEH2_HUMAN,C9J6Z6_HUMAN,C9J196_HUMAN	.	UPI000013EDAE	SNV	DAG1,synonymous_variant,p.%3D,ENST00000308775,;DAG1,synonymous_variant,p.%3D,ENST00000545947,;DAG1,synonymous_variant,p.%3D,ENST00000539901,;DAG1,synonymous_variant,p.%3D,ENST00000515359,;DAG1,synonymous_variant,p.%3D,ENST00000541308,;DAG1,synonymous_variant,p.%3D,ENST00000538711,;DAG1,downstream_gene_variant,,ENST00000431960,;DAG1,downstream_gene_variant,,ENST00000421560,;DAG1,downstream_gene_variant,,ENST00000461492,;DAG1,downstream_gene_variant,,ENST00000479935,;	2810	81	88	SUCCESS
DOCK3	1795	.	GRCh37	3	51264732	51264732	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	76	0	ENST00000266037.9:c.1396T>A	p.Ser466Thr	p.S466T	ENST00000266037	NM_004947.4	466	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS46835.1	1396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTTCAGGA	NONE	.	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Pfam_domain:PF14429	.	.	ENSP00000266037	.	16/53	.	.	.	.	.	.	.	.	.	16/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.08)	.	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,missense_variant,p.Ser466Thr,ENST00000266037,;	1419	76	51	SUCCESS
TKT	7086	.	GRCh37	3	53263101	53263101	+	synonymous_variant	Silent	SNP	T	T	A	rs781914688	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	106	0	ENST00000423525.2:c.1317A>T	p.Ser439=	p.S439=	ENST00000423525	NM_001135055.2	439	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58834.1	1341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACTGACCG	NONE	.	.	hmmpanther:PTHR11624:SF59,hmmpanther:PTHR11624,Gene3D:3.40.50.970,Pfam_domain:PF02779,SMART_domains:SM00861,Superfamily_domains:SSF52518	.	.	ENSP00000391481	.	11/15	.	.	.	.	.	.	.	.	rs781914688	11/15	PASS	ENST00000423516	Transcript	.	.	ENSG00000163931	11834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKT_HUMAN	TKT	HGNC	B3KPZ8_HUMAN	.	UPI0001AE759A	SNV	TKT,synonymous_variant,p.%3D,ENST00000462138,;TKT,synonymous_variant,p.%3D,ENST00000423516,;TKT,synonymous_variant,p.%3D,ENST00000423525,;TKT,synonymous_variant,p.%3D,ENST00000296289,;TKT,non_coding_transcript_exon_variant,,ENST00000461139,;TKT,3_prime_UTR_variant,,ENST00000469678,;TKT,3_prime_UTR_variant,,ENST00000450814,;TKT,non_coding_transcript_exon_variant,,ENST00000460343,;TKT,non_coding_transcript_exon_variant,,ENST00000460243,;TKT,downstream_gene_variant,,ENST00000472528,;TKT,downstream_gene_variant,,ENST00000494523,;TKT,downstream_gene_variant,,ENST00000466765,;	1421	106	88	SUCCESS
FLNB	2317	.	GRCh37	3	58112352	58112352	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	80	164	0	ENST00000295956.4:c.4085G>T	p.Gly1362Val	p.G1362V	ENST00000295956	NM_001457.3	1362	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54599.1	4085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGCATAA	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	24/47	.	.	.	.	.	.	.	.	.	24/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Gly1362Val,ENST00000429972,;FLNB,missense_variant,p.Gly1362Val,ENST00000295956,;FLNB,missense_variant,p.Gly1362Val,ENST00000348383,;FLNB,missense_variant,p.Gly1193Val,ENST00000493452,;FLNB,missense_variant,p.Gly1362Val,ENST00000358537,;FLNB,missense_variant,p.Gly1362Val,ENST00000490882,;FLNB,missense_variant,p.Gly1193Val,ENST00000419752,;FLNB,missense_variant,p.Gly1362Val,ENST00000357272,;	4250	164	154	SUCCESS
ATXN7	6314	.	GRCh37	3	63973873	63973873	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	35	163	0	ENST00000295900.6:c.1234A>T	p.Arg412Trp	p.R412W	ENST00000295900	NM_000333.3	412	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54603.1	1234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCAGGGAC	NONE	.	.	hmmpanther:PTHR15117:SF2,hmmpanther:PTHR15117	.	.	ENSP00000381590	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000398590	Transcript	.	.	ENSG00000163635	10560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ATX7_HUMAN	ATXN7	HGNC	Q9UPD8_HUMAN,Q8TEZ8_HUMAN,H0YAT6_HUMAN	.	UPI00001B07C4	SNV	ATXN7,missense_variant,p.Arg412Trp,ENST00000398590,;ATXN7,missense_variant,p.Arg412Trp,ENST00000295900,;ATXN7,missense_variant,p.Arg267Trp,ENST00000484332,;ATXN7,missense_variant,p.Arg412Trp,ENST00000487717,;ATXN7,missense_variant,p.Arg412Trp,ENST00000538065,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;ATXN7,non_coding_transcript_exon_variant,,ENST00000466529,;ATXN7,non_coding_transcript_exon_variant,,ENST00000472569,;ATXN7,upstream_gene_variant,,ENST00000484668,;ATXN7,upstream_gene_variant,,ENST00000477516,;	1787	163	135	SUCCESS
MAGI1	9223	.	GRCh37	3	65425648	65425648	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	37	0	ENST00000402939.2:c.1176A>G	p.Leu392=	p.L392=	ENST00000402939	NM_001033057.1	392	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33780.1	1176	MUTECT|MUSE	.	GCTTCTAGAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50020,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF12,Gene3D:2.20.70.10,SMART_domains:SM00456	.	.	ENSP00000385450	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000402939	Transcript	.	.	ENSG00000151276	946	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAGI1_HUMAN	MAGI1	HGNC	.	.	UPI0000457132	SNV	MAGI1,synonymous_variant,p.%3D,ENST00000463103,;MAGI1,synonymous_variant,p.%3D,ENST00000472257,;MAGI1,synonymous_variant,p.%3D,ENST00000402939,;MAGI1,synonymous_variant,p.%3D,ENST00000479287,;MAGI1,synonymous_variant,p.%3D,ENST00000330909,;MAGI1,synonymous_variant,p.%3D,ENST00000460329,;MAGI1,synonymous_variant,p.%3D,ENST00000483466,;MAGI1,synonymous_variant,p.%3D,ENST00000497477,;MAGI1,non_coding_transcript_exon_variant,,ENST00000470990,;MAGI1,non_coding_transcript_exon_variant,,ENST00000494271,;	1176	37	24	SUCCESS
EPHA3	2042	.	GRCh37	3	89156892	89156892	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	62	0	ENST00000336596.2:c.-7C>A		p.*3*	ENST00000336596	NM_005233.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2922.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCAGCAA	NONE	.	.	.	.	.	ENSP00000337451	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,5_prime_UTR_variant,,ENST00000494014,;EPHA3,5_prime_UTR_variant,,ENST00000452448,;EPHA3,5_prime_UTR_variant,,ENST00000336596,;	219	62	41	SUCCESS
MINA	0	.	GRCh37	3	97686360	97686360	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	55	0	ENST00000333396.7:c.78A>T	p.Ala26=	p.A26=	ENST00000333396	NM_001042533.2	26	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43114.1	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTGCTTC	NONE	.	.	hmmpanther:PTHR13096	.	.	ENSP00000328251	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000333396	Transcript	.	.	ENSG00000170854	19441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MINA_HUMAN	MINA	HGNC	D6RCB6_HUMAN	.	UPI0000074784	SNV	MINA,synonymous_variant,p.%3D,ENST00000506099,;MINA,synonymous_variant,p.%3D,ENST00000360258,;MINA,synonymous_variant,p.%3D,ENST00000330299,;MINA,synonymous_variant,p.%3D,ENST00000333396,;MINA,synonymous_variant,p.%3D,ENST00000394198,;MINA,synonymous_variant,p.%3D,ENST00000514314,;	661	55	60	SUCCESS
OR5H15	403274	.	GRCh37	3	97888085	97888085	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs62266800	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	34	114	0	ENST00000356526.2:c.542C>T	p.Thr181Ile	p.T181I	ENST00000356526	NM_001005515.1	181	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS33799.1	542	RADIA|SOMATICSNIPER|VARSCANS	.	TGACACTATCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000373195	.	1/1	.	.	.	.	.	.	.	.	rs62266800	1/1	PASS	ENST00000356526	Transcript	.	.	ENSG00000233412	31287	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	O5H15_HUMAN	OR5H15	HGNC	.	.	UPI00001606CE	SNV	OR5H15,missense_variant,p.Thr181Ile,ENST00000356526,;	542	114	107	SUCCESS
OR5K2	402135	.	GRCh37	3	98216964	98216964	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	119	0	ENST00000427338.1:c.440G>A	p.Gly147Asp	p.G147D	ENST00000427338	NM_001004737.1	147	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS33804.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGCGCCT	BUFFER|p.T146A|c.436A>G|5	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF38,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000393889	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000427338	Transcript	.	.	ENSG00000231861	14774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.2)	.	OR5K2_HUMAN	OR5K2	HGNC	.	.	UPI000004B1DF	SNV	OR5K2,missense_variant,p.Gly147Asp,ENST00000427338,;CLDND1,3_prime_UTR_variant,,ENST00000502288,;CLDND1,downstream_gene_variant,,ENST00000507874,;	517	119	118	SUCCESS
CENPE	1062	.	GRCh37	4	104061192	104061192	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	87	0	ENST00000265148.3:c.5958A>T	p.Lys1986Asn	p.K1986N	ENST00000265148	NM_001813.2	1986	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34042.1	5958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTTTCAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	38/49	.	.	.	.	.	.	.	.	.	38/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Lys1986Asn,ENST00000265148,;CENPE,intron_variant,,ENST00000380026,;	6048	87	56	SUCCESS
TACR3	6870	.	GRCh37	4	104511135	104511135	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1353399295	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	102	0	ENST00000304883.2:c.1102A>T	p.Lys368Ter	p.K368*	ENST00000304883	NM_001059.2	368	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS3664.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTTGAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00244	.	.	ENSP00000303325	.	5/5	.	.	.	.	.	.	.	.	COSM1426194	5/5	PASS	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	SNV	TACR3,stop_gained,p.Lys368Ter,ENST00000304883,;RP11-297P16.3,intron_variant,,ENST00000512401,;RP11-297P16.3,intron_variant,,ENST00000502936,;	1243	102	67	SUCCESS
EGF	1950	.	GRCh37	4	110915949	110915949	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	65	0	ENST00000265171.5:c.2918A>C	p.Asp973Ala	p.D973A	ENST00000265171	NM_001963.4	973	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS3689.1	2918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGACTCTG	NONE	.	.	Prints_domain:PR00009,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,PROSITE_profiles:PS50026	.	.	ENSP00000265171	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.46)	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,missense_variant,p.Asp932Ala,ENST00000503392,;EGF,missense_variant,p.Asp973Ala,ENST00000265171,;EGF,missense_variant,p.Asp931Ala,ENST00000509793,;RNU6-35P,downstream_gene_variant,,ENST00000384530,;EGF,non_coding_transcript_exon_variant,,ENST00000509996,;	3363	65	49	SUCCESS
PDE5A	8654	.	GRCh37	4	120463621	120463621	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	136	0	ENST00000354960.3:c.1565C>A	p.Thr522Lys	p.T522K	ENST00000354960	NM_001083.3	522	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS3713.1	1565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGTGACC	NONE	.	.	hmmpanther:PTHR11347:SF21,hmmpanther:PTHR11347,Superfamily_domains:SSF55781	.	.	ENSP00000347046	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000354960	Transcript	.	.	ENSG00000138735	8784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	PDE5A_HUMAN	PDE5A	HGNC	Q9P0K6_HUMAN,Q9P0K4_HUMAN,Q4W5L4_HUMAN,G5E9C5_HUMAN,C9JGT3_HUMAN	.	UPI000013D571	SNV	PDE5A,missense_variant,p.Thr480Lys,ENST00000264805,;PDE5A,missense_variant,p.Thr522Lys,ENST00000354960,;PDE5A,missense_variant,p.Thr470Lys,ENST00000394439,;PDE5A,non_coding_transcript_exon_variant,,ENST00000512739,;RP11-33B1.1,intron_variant,,ENST00000498873,;RP11-33B1.1,intron_variant,,ENST00000500559,;PDE5A,upstream_gene_variant,,ENST00000513594,;PDE5A,upstream_gene_variant,,ENST00000502912,;	1885	136	83	SUCCESS
KIAA1109	84162	.	GRCh37	4	123246433	123246433	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	93	350	1	ENST00000264501.4:c.10953A>T	p.Ala3651=	p.A3651=	ENST00000264501		3651	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43267.1	10953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCAGCATC	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	65/86	.	.	.	.	.	.	.	.	.	65/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,synonymous_variant,p.%3D,ENST00000306802,;KIAA1109,synonymous_variant,p.%3D,ENST00000438707,;KIAA1109,synonymous_variant,p.%3D,ENST00000455637,;KIAA1109,synonymous_variant,p.%3D,ENST00000264501,;KIAA1109,synonymous_variant,p.%3D,ENST00000388738,;KIAA1109,synonymous_variant,p.%3D,ENST00000419325,;KIAA1109,upstream_gene_variant,,ENST00000480651,;	11326	351	237	SUCCESS
FAT4	79633	.	GRCh37	4	126370737	126370737	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	100	0	ENST00000394329.3:c.8566A>T	p.Thr2856Ser	p.T2856S	ENST00000394329	NM_024582.4	2856	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3732.3	8566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTACAGAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Thr2856Ser,ENST00000394329,;FAT4,missense_variant,p.Thr1154Ser,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	8579	100	72	SUCCESS
TIGD4	201798	.	GRCh37	4	153690840	153690840	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	99	1	ENST00000304337.2:c.1317A>T	p.Ile439=	p.I439=	ENST00000304337	NM_145720.3	439	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34079.1	1317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCATATGGA	NONE	.	.	.	.	.	ENSP00000355162	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304337	Transcript	.	.	ENSG00000169989	18335	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIGD4_HUMAN	TIGD4	HGNC	.	.	UPI000013E966	SNV	TIGD4,synonymous_variant,p.%3D,ENST00000304337,;	2138	100	71	SUCCESS
DCHS2	54798	.	GRCh37	4	155156250	155156250	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	90	0	ENST00000357232.4:c.8189A>T	p.Gln2730Leu	p.Q2730L	ENST00000357232	NM_017639.3	2730	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3785.1	8189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCTGGGGT	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	deleterious(0.02)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Gln2730Leu,ENST00000357232,;	8189	90	62	SUCCESS
ETFDH	2110	.	GRCh37	4	159603531	159603531	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	76	0	ENST00000511912.1:c.360T>G	p.Asp120Glu	p.D120E	ENST00000511912	NM_004453.2	120	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS3800.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATCCAGG	NONE	.	.	Superfamily_domains:SSF51905,Gene3D:3.50.50.60,hmmpanther:PTHR10617,hmmpanther:PTHR10617:SF98	.	.	ENSP00000426638	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000511912	Transcript	1	.	ENSG00000171503	3483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ETFD_HUMAN	ETFDH	HGNC	D6RAD5_HUMAN,B4DEQ0_HUMAN	.	UPI000013EC48	SNV	ETFDH,missense_variant,p.Asp73Glu,ENST00000307738,;ETFDH,missense_variant,p.Asp120Glu,ENST00000511912,;ETFDH,intron_variant,,ENST00000507475,;ETFDH,downstream_gene_variant,,ENST00000512251,;ETFDH,non_coding_transcript_exon_variant,,ENST00000436096,;ETFDH,intron_variant,,ENST00000506422,;ETFDH,downstream_gene_variant,,ENST00000510353,;ETFDH,non_coding_transcript_exon_variant,,ENST00000514148,;	692	76	52	SUCCESS
TRIM60	166655	.	GRCh37	4	165962511	165962511	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	97	0	ENST00000341062.5:c.1287del	p.Tyr429Ter	p.Y429*	ENST00000341062		429	taT/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS3808.1	1287	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTATAATAT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000421142	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000512596	Transcript	.	.	ENSG00000176979	21162	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI60_HUMAN	TRIM60	HGNC	D6RAS2_HUMAN	.	UPI000006DAAD	deletion	TRIM60,frameshift_variant,p.Tyr429Ter,ENST00000341062,;TRIM60,frameshift_variant,p.Tyr429Ter,ENST00000512596,;TRIM60,frameshift_variant,p.Tyr429Ter,ENST00000508504,;TRIM60,downstream_gene_variant,,ENST00000507119,;RP11-366M4.17,upstream_gene_variant,,ENST00000508621,;	1503	97	90	SUCCESS
DDX60L	91351	.	GRCh37	4	169369824	169369824	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	65	338	0	ENST00000260184.7:c.1103A>G	p.Asn368Ser	p.N368S	ENST00000260184	NM_001012967.1	368	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS47161.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATATTCTTT	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF56	.	.	ENSP00000260184	.	9/38	.	.	.	.	.	.	.	.	.	9/38	PASS	ENST00000260184	Transcript	.	.	ENSG00000181381	26429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	tolerated(0.09)	.	DDX6L_HUMAN	DDX60L	HGNC	D6RIU1_HUMAN,D6RBA2_HUMAN,D6RB62_HUMAN	.	UPI0001553B03	SNV	DDX60L,missense_variant,p.Asn368Ser,ENST00000511577,;DDX60L,missense_variant,p.Asn368Ser,ENST00000505890,;DDX60L,missense_variant,p.Asn96Ser,ENST00000505863,;DDX60L,missense_variant,p.Asn368Ser,ENST00000260184,;	1324	338	201	SUCCESS
RGS12	6002	.	GRCh37	4	3424630	3424630	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	46	0	ENST00000336727.3:c.3034-2A>T		p.X1012_splice	ENST00000336727	NM_002926.3	1012		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3366.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAGCCTC	NONE	.	.	.	.	.	ENSP00000339381	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344733	Transcript	.	.	ENSG00000159788	9994	.	.	HIGH	11/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS12_HUMAN	RGS12	HGNC	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN	.	UPI0000133830	SNV	RGS12,splice_acceptor_variant,,ENST00000538395,;RGS12,splice_acceptor_variant,,ENST00000336727,;RGS12,splice_acceptor_variant,,ENST00000382788,;RGS12,splice_acceptor_variant,,ENST00000306648,;RGS12,splice_acceptor_variant,,ENST00000344733,;RGS12,splice_acceptor_variant,,ENST00000338806,;RGS12,splice_acceptor_variant,,ENST00000507246,;RGS12,splice_acceptor_variant,,ENST00000511709,;RGS12,splice_acceptor_variant,,ENST00000508158,;RGS12,splice_acceptor_variant,,ENST00000515521,;RGS12,upstream_gene_variant,,ENST00000504559,;RGS12,splice_acceptor_variant,,ENST00000504194,;RGS12,splice_acceptor_variant,,ENST00000509746,;RGS12,splice_acceptor_variant,,ENST00000513991,;RGS12,splice_acceptor_variant,,ENST00000507041,;RGS12,downstream_gene_variant,,ENST00000506998,;RGS12,downstream_gene_variant,,ENST00000512266,;RGS12,downstream_gene_variant,,ENST00000506631,;RGS12,downstream_gene_variant,,ENST00000510803,;	.	46	22	SUCCESS
ZBTB49	166793	.	GRCh37	4	4304448	4304448	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	130	1	ENST00000337872.4:c.885A>T	p.Gln295His	p.Q295H	ENST00000337872	NM_145291.3	295	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS3375.1	885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAACAACC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF104	.	.	ENSP00000338807	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000337872	Transcript	.	.	ENSG00000168826	19883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.53)	.	ZBT49_HUMAN	ZBTB49	HGNC	Q32MK9_HUMAN,D6RJ00_HUMAN	.	UPI000022C559	SNV	ZBTB49,missense_variant,p.Gln295His,ENST00000355834,;ZBTB49,missense_variant,p.Gln295His,ENST00000337872,;ZBTB49,missense_variant,p.Gln32His,ENST00000504302,;ZBTB49,5_prime_UTR_variant,,ENST00000538529,;ZBTB49,downstream_gene_variant,,ENST00000502918,;ZBTB49,missense_variant,p.Gln295His,ENST00000515012,;ZBTB49,3_prime_UTR_variant,,ENST00000503703,;ZBTB49,upstream_gene_variant,,ENST00000511458,;	1006	131	83	SUCCESS
LRRC66	339977	.	GRCh37	4	52860981	52860981	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	71	0	ENST00000343457.3:c.2207A>T	p.Gln736Leu	p.Q736L	ENST00000343457	NM_001024611.1	736	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS43229.1	2207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTGCAGG	NONE	.	.	.	.	.	ENSP00000341944	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343457	Transcript	.	.	ENSG00000188993	34299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.12)	.	LRC66_HUMAN	LRRC66	HGNC	.	.	UPI0000425C5B	SNV	LRRC66,missense_variant,p.Gln736Leu,ENST00000343457,;	2214	71	60	SUCCESS
STK32B	55351	.	GRCh37	4	5500757	5500757	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs558465928	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	61	273	0	ENST00000282908.5:c.1192G>C	p.Gly398Arg	p.G398R	ENST00000282908	NM_018401.1	398	Ggg/Cgg	0	.	C:0	.	C:0	.	C	G/R	protein_coding	YES	CCDS3380.1	1192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGGGTGC	NONE	by1000G	.	.	C:0	.	ENSP00000282908	C:0	12/12	.	.	.	.	.	.	.	.	rs558465928,COSM141077	12/12	PASS	ENST00000282908	Transcript	.	C:0.0002	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.95)	C:0.001	deleterious_low_confidence(0.01)	0,1	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.Gly351Arg,ENST00000510398,;STK32B,missense_variant,p.Gly321Arg,ENST00000512636,;STK32B,missense_variant,p.Gly398Arg,ENST00000282908,;STK32B,non_coding_transcript_exon_variant,,ENST00000508728,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	1614	274	173	SUCCESS
EVC	2121	.	GRCh37	4	5800323	5800323	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	148	0	ENST00000264956.6:c.2108T>A	p.Val703Glu	p.V703E	ENST00000264956	NM_153717.2	703	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS3383.1	2108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTGCTGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	.	.	ENSP00000372120	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000382674	Transcript	1	.	ENSG00000072840	3497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,missense_variant,p.Val703Glu,ENST00000382674,;EVC,missense_variant,p.Val703Glu,ENST00000264956,;EVC,non_coding_transcript_exon_variant,,ENST00000515113,;CRMP1,intron_variant,,ENST00000506216,;EVC,downstream_gene_variant,,ENST00000506240,;	2292	148	90	SUCCESS
CENPC	1060	.	GRCh37	4	68357970	68357970	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	74	0	ENST00000273853.6:c.2443G>C	p.Gly815Arg	p.G815R	ENST00000273853	NM_001812.2	815	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS47063.1	2443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACCTAGAT	NONE	.	.	hmmpanther:PTHR16684,Superfamily_domains:SSF51182	.	.	ENSP00000273853	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000273853	Transcript	.	.	ENSG00000145241	1854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0.01)	.	CENPC_HUMAN	CENPC	HGNC	.	.	UPI00004135A3	SNV	CENPC,missense_variant,p.Gly815Arg,ENST00000273853,;CENPC,3_prime_UTR_variant,,ENST00000506882,;CENPC,3_prime_UTR_variant,,ENST00000515140,;CENPC,3_prime_UTR_variant,,ENST00000513216,;CENPC,downstream_gene_variant,,ENST00000510189,;	2694	74	44	SUCCESS
TBC1D14	57533	.	GRCh37	4	6925360	6925360	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	161	0	ENST00000409757.4:c.244A>T	p.Ser82Cys	p.S82C	ENST00000409757	NM_020773.2	82	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS3394.2	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCGCG	NONE	.	.	.	.	.	ENSP00000386921	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000409757	Transcript	.	.	ENSG00000132405	29246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.711)	.	deleterious_low_confidence(0.01)	.	TBC14_HUMAN	TBC1D14	HGNC	C9JP26_HUMAN,C9J541_HUMAN	.	UPI000020BAB6	SNV	TBC1D14,missense_variant,p.Ser82Cys,ENST00000448507,;TBC1D14,missense_variant,p.Ser82Cys,ENST00000409757,;TBC1D14,missense_variant,p.Ser82Cys,ENST00000444368,;TBC1D14,downstream_gene_variant,,ENST00000427736,;	368	161	76	SUCCESS
NPFFR2	10886	.	GRCh37	4	72994540	72994540	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	122	0	ENST00000308744.6:c.538A>G	p.Thr180Ala	p.T180A	ENST00000308744	NM_004885.2	180	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3551.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACACAGTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000307822	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000308744	Transcript	.	.	ENSG00000056291	4525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NPFF2_HUMAN	NPFFR2	HGNC	A0PJM9_HUMAN	.	UPI000012FFBD	SNV	NPFFR2,missense_variant,p.Thr180Ala,ENST00000308744,;NPFFR2,missense_variant,p.Thr78Ala,ENST00000358749,;NPFFR2,missense_variant,p.Thr81Ala,ENST00000395999,;NPFFR2,intron_variant,,ENST00000344413,;	636	122	43	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73181644	73181644	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	141	0	ENST00000286657.4:c.1530T>A	p.Pro510=	p.P510=	ENST00000286657	NM_014243.2	510	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3553.1	1530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCAGGATG	NONE	.	.	hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723	.	.	ENSP00000286657	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,synonymous_variant,p.%3D,ENST00000286657,;ADAMTS3,upstream_gene_variant,,ENST00000511274,;	1567	141	82	SUCCESS
FRAS1	80144	.	GRCh37	4	79366793	79366793	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1471365312	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	93	0	ENST00000264895.6:c.5783A>G	p.His1928Arg	p.H1928R	ENST00000264895	NM_025074.6	1928	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS54771.1	5783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCATGATA	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	42/74	.	.	.	.	.	.	.	.	.	42/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.His157Arg,ENST00000512123,;FRAS1,missense_variant,p.His378Arg,ENST00000510944,;FRAS1,missense_variant,p.His1928Arg,ENST00000325942,;FRAS1,missense_variant,p.His1928Arg,ENST00000264895,;FRAS1,upstream_gene_variant,,ENST00000509802,;	6223	93	50	SUCCESS
FRAS1	80144	.	GRCh37	4	79455718	79455718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	69	0	ENST00000264895.6:c.11041A>T	p.Thr3681Ser	p.T3681S	ENST00000264895	NM_025074.6	3681	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS54771.1	11041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATACATCT	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	71/74	.	.	.	.	.	.	.	.	.	71/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Thr1910Ser,ENST00000512123,;FRAS1,missense_variant,p.Thr3681Ser,ENST00000264895,;	11481	69	37	SUCCESS
PTPN13	5783	.	GRCh37	4	87638220	87638220	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	72	0	ENST00000411767.2:c.1335T>A	p.Gly445=	p.G445=	ENST00000411767		445	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS47093.1	1335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTCTCCC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,synonymous_variant,p.%3D,ENST00000411767,;PTPN13,synonymous_variant,p.%3D,ENST00000436978,;PTPN13,synonymous_variant,p.%3D,ENST00000316707,;PTPN13,synonymous_variant,p.%3D,ENST00000511467,;PTPN13,synonymous_variant,p.%3D,ENST00000427191,;	1815	72	44	SUCCESS
CCSER1	401145	.	GRCh37	4	92519745	92519745	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	160	0	ENST00000509176.1:c.2240T>A	p.Val747Glu	p.V747E	ENST00000509176	NM_001145065.1	747	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47099.1	2240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTGAGCC	NONE	.	.	.	.	.	ENSP00000425040	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious_low_confidence(0.04)	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Val747Glu,ENST00000509176,;CCSER1,missense_variant,p.Val747Glu,ENST00000333691,;	2528	160	108	SUCCESS
SLC25A46	91137	.	GRCh37	5	110081977	110081977	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	108	312	0	ENST00000355943.3:c.392A>T	p.Tyr131Phe	p.Y131F	ENST00000355943	NM_138773.1	131	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS4100.1	392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTACCATG	NONE	.	.	hmmpanther:PTHR21252,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000348211	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000355943	Transcript	.	.	ENSG00000164209	25198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	tolerated(0.2)	.	S2546_HUMAN	SLC25A46	HGNC	E7EVY2_HUMAN,B7Z6C8_HUMAN,B3KRE6_HUMAN	.	UPI00000711AA	SNV	SLC25A46,missense_variant,p.Tyr131Phe,ENST00000447245,;SLC25A46,missense_variant,p.Tyr40Phe,ENST00000509442,;SLC25A46,missense_variant,p.Tyr131Phe,ENST00000355943,;SLC25A46,5_prime_UTR_variant,,ENST00000504098,;SLC25A46,5_prime_UTR_variant,,ENST00000513807,;SLC25A46,non_coding_transcript_exon_variant,,ENST00000508781,;SLC25A46,non_coding_transcript_exon_variant,,ENST00000502462,;	518	312	295	SUCCESS
ACSL6	23305	.	GRCh37	5	131323886	131323886	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	56	0	ENST00000379240.1:c.611A>T	p.Gln204Leu	p.Q204L	ENST00000379240		204	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34229.1	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGAGGT	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF125,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	.	.	ENSP00000368566	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000379264	Transcript	.	.	ENSG00000164398	16496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	deleterious(0.03)	.	ACSL6_HUMAN	ACSL6	HGNC	G3V1S9_HUMAN,C9JPA5_HUMAN,C9JK59_HUMAN,C9J4I1_HUMAN,C9J3Z0_HUMAN,B3KV64_HUMAN	.	UPI00004BA928	SNV	ACSL6,missense_variant,p.Gln219Leu,ENST00000379272,;ACSL6,missense_variant,p.Gln204Leu,ENST00000379240,;ACSL6,missense_variant,p.Gln113Leu,ENST00000544770,;ACSL6,missense_variant,p.Gln215Leu,ENST00000379246,;ACSL6,missense_variant,p.Gln204Leu,ENST00000543479,;ACSL6,missense_variant,p.Gln204Leu,ENST00000430403,;ACSL6,missense_variant,p.Gln229Leu,ENST00000296869,;ACSL6,missense_variant,p.Gln204Leu,ENST00000379244,;ACSL6,missense_variant,p.Gln204Leu,ENST00000379249,;ACSL6,missense_variant,p.Gln169Leu,ENST00000434099,;ACSL6,missense_variant,p.Gln229Leu,ENST00000379264,;ACSL6,missense_variant,p.Gln184Leu,ENST00000431707,;ACSL6,missense_variant,p.Gln169Leu,ENST00000357096,;ACSL6,missense_variant,p.Gln169Leu,ENST00000379255,;ACSL6,downstream_gene_variant,,ENST00000419502,;ACSL6,downstream_gene_variant,,ENST00000441995,;ACSL6,downstream_gene_variant,,ENST00000416557,;ACSL6,downstream_gene_variant,,ENST00000414078,;ACSL6,downstream_gene_variant,,ENST00000477640,;ACSL6,missense_variant,p.Gln204Leu,ENST00000413683,;ACSL6,upstream_gene_variant,,ENST00000489047,;	795	56	75	SUCCESS
CATSPER3	347732	.	GRCh37	5	134332053	134332053	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	50	0	ENST00000282611.6:c.343A>T	p.Asn115Tyr	p.N115Y	ENST00000282611	NM_178019.2	115	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS4181.1	343	RADIA|MUTECT|MUSE|VARSCANS	.	GCTACAACCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF197,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000282611	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000282611	Transcript	.	.	ENSG00000152705	20819	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CTSR3_HUMAN	CATSPER3	HGNC	.	.	UPI0000034D60	SNV	CATSPER3,missense_variant,p.Asn115Tyr,ENST00000282611,;CATSPER3,downstream_gene_variant,,ENST00000511235,;PCBD2,3_prime_UTR_variant,,ENST00000504352,;	429	50	58	SUCCESS
KDM3B	51780	.	GRCh37	5	137756438	137756438	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	72	0	ENST00000314358.5:c.3759A>T	p.Ser1253=	p.S1253=	ENST00000314358	NM_016604.3	1253	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34242.1	3759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCACCCTT	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,synonymous_variant,p.%3D,ENST00000542866,;KDM3B,synonymous_variant,p.%3D,ENST00000394866,;KDM3B,synonymous_variant,p.%3D,ENST00000314358,;KDM3B,non_coding_transcript_exon_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,upstream_gene_variant,,ENST00000505756,;	3959	72	64	SUCCESS
DNAH5	1767	.	GRCh37	5	13920675	13920675	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	34	120	0	ENST00000265104.4:c.712A>G	p.Thr238Ala	p.T238A	ENST00000265104	NM_001369.2	238	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3882.1	712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCGTAGGTT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	6/79	.	.	.	.	.	.	.	.	.	6/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Thr238Ala,ENST00000265104,;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;	817	120	138	SUCCESS
DNAH5	1767	.	GRCh37	5	13928204	13928204	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	23	68	0	ENST00000265104.4:c.276A>T		p.X92_splice	ENST00000265104	NM_001369.2	92	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3882.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTGTTTC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	3/79	.	.	.	.	.	.	.	.	.	3/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;DNAH5,splice_region_variant,,ENST00000508040,;	381	68	98	SUCCESS
DNAH5	1767	.	GRCh37	5	13931352	13931352	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	89	0	ENST00000265104.4:c.59A>T	p.Gln20Leu	p.Q20L	ENST00000265104	NM_001369.2	20	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3882.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTTGCTAA	NONE	.	.	.	.	.	ENSP00000265104	.	2/79	.	.	.	.	.	.	.	.	.	2/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Gln20Leu,ENST00000265104,;DNAH5,splice_region_variant,,ENST00000508040,;	164	89	90	SUCCESS
HBEGF	1839	.	GRCh37	5	139725617	139725617	+	synonymous_variant	Silent	SNP	T	T	A	rs375401691	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	95	0	ENST00000230990.6:c.99A>T	p.Leu33=	p.L33=	ENST00000230990	NM_001945.2	33	ctA/ctT	0	A:0	.	.	.	.	A	L	protein_coding	YES	CCDS4223.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTAGCCC	NONE	byCluster	.	hmmpanther:PTHR10740,hmmpanther:PTHR10740:SF4	.	A:0.0001	ENSP00000230990	.	2/6	.	.	.	.	.	.	.	.	rs375401691	2/6	PASS	ENST00000230990	Transcript	.	.	ENSG00000113070	3059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBEGF_HUMAN	HBEGF	HGNC	Q9UMJ6_HUMAN	.	UPI0000035E3F	SNV	HBEGF,synonymous_variant,p.%3D,ENST00000507104,;HBEGF,synonymous_variant,p.%3D,ENST00000230990,;CTC-329D1.3,downstream_gene_variant,,ENST00000520443,;HBEGF,upstream_gene_variant,,ENST00000498452,;	402	95	98	SUCCESS
PCDHB3	56132	.	GRCh37	5	140481325	140481325	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	52	0	ENST00000231130.2:c.1092A>T	p.Val364=	p.V364=	ENST00000231130	NM_018937.2	364	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4245.1	1092	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTACTGGC	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF19,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231130	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,synonymous_variant,p.%3D,ENST00000231130,;PCDHB2,downstream_gene_variant,,ENST00000194155,;AC005754.7,intron_variant,,ENST00000607216,;	1092	52	59	SUCCESS
PCDHB6	56130	.	GRCh37	5	140531957	140531957	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs540523095	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	64	0	ENST00000231136.1:c.2119G>T	p.Val707Leu	p.V707L	ENST00000231136	NM_018939.2	707	Gtg/Ttg	0	.	A:0.0008	.	A:0	.	T	V/L	protein_coding	YES	CCDS4248.1	2119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGTGGCG	NONE	by1000G	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	A:0	.	ENSP00000231136	A:0	1/1	.	.	.	.	.	.	.	.	rs540523095	1/1	PASS	ENST00000231136	Transcript	.	A:0.0002	ENSG00000113211	8691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	A:0	deleterious(0.02)	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,missense_variant,p.Val571Leu,ENST00000543635,;PCDHB6,missense_variant,p.Val707Leu,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2119	64	64	SUCCESS
PCDHB7	56129	.	GRCh37	5	140552882	140552882	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	96	0	ENST00000231137.3:c.466A>T	p.Ser156Cys	p.S156C	ENST00000231137	NM_018940.2	156	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS4249.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGAGTGCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF69,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.16)	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,missense_variant,p.Ser156Cys,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	640	96	122	SUCCESS
PCDHB11	56125	.	GRCh37	5	140581442	140581442	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	85	0	ENST00000354757.3:c.2095T>A	p.Ser699Thr	p.S699T	ENST00000354757	NM_018931.2	699	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS4253.1	2095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTTCGCTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24028:SF91,hmmpanther:PTHR24028	.	.	ENSP00000346802	.	1/1	.	.	.	.	.	.	.	.	COSM1542199	1/1	PASS	ENST00000354757	Transcript	.	.	ENSG00000197479	8682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.341)	.	deleterious_low_confidence(0.04)	1	PCDBB_HUMAN	PCDHB11	HGNC	B4DSF7_HUMAN	.	UPI00001273E6	SNV	PCDHB11,missense_variant,p.Ser334Thr,ENST00000536699,;PCDHB11,missense_variant,p.Ser699Thr,ENST00000354757,;	2095	85	95	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140744248	140744248	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	36	151	1	ENST00000518069.1:c.351T>A	p.Tyr117Ter	p.Y117*	ENST00000518069	NM_018918.2	117	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS54925.1	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATGGAGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,SMART_domains:SM00112	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,stop_gained,p.Tyr117Ter,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;	351	152	162	SUCCESS
PCDHGC4	56098	.	GRCh37	5	140865877	140865877	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	30	104	0	ENST00000306593.1:c.1137A>T	p.Ser379=	p.S379=	ENST00000306593	NM_018928.2	379	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4262.1	1137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCAGGGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF80,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000306918	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000306593	Transcript	.	.	ENSG00000242419	8717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGL_HUMAN	PCDHGC4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000071C3B	SNV	PCDHGC4,synonymous_variant,p.%3D,ENST00000306593,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGC3,intron_variant,,ENST00000308177,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGC5,upstream_gene_variant,,ENST00000252087,;	1137	104	137	SUCCESS
ARSI	340075	.	GRCh37	5	149676796	149676796	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	40	156	0	ENST00000328668.7:c.1691T>A	p.Leu564Gln	p.L564Q	ENST00000328668	NM_001012301.2	564	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS34275.1	1691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTAGCCTG	NONE	.	.	.	.	.	ENSP00000333395	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328668	Transcript	1	.	ENSG00000183876	32521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	deleterious_low_confidence(0)	.	ARSI_HUMAN	ARSI	HGNC	D6RDH0_HUMAN	.	UPI000003FD83	SNV	ARSI,missense_variant,p.Leu421Gln,ENST00000515301,;ARSI,missense_variant,p.Leu564Gln,ENST00000328668,;ARSI,downstream_gene_variant,,ENST00000509146,;	2271	156	183	SUCCESS
FAT2	2196	.	GRCh37	5	150933925	150933925	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs1241571534	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	100	0	ENST00000261800.5:c.3943A>T	p.Thr1315Ser	p.T1315S	ENST00000261800	NM_001447.2	1315	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4317.1	3943	RADIA|MUTECT|MUSE|VARSCANS	.	CACCGTTAGGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.926)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Thr1315Ser,ENST00000261800,;	3956	100	104	SUCCESS
GRIA1	2890	.	GRCh37	5	153085377	153085377	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	31	124	0	ENST00000285900.5:c.1573A>T	p.Lys525Ter	p.K525*	ENST00000285900	NM_000827.3	525	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS58987.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAAGCCG	NONE	.	.	SMART_domains:SM00079,Gene3D:3.40.190.10,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,stop_gained,p.Lys445Ter,ENST00000518142,;GRIA1,stop_gained,p.Lys535Ter,ENST00000518783,;GRIA1,stop_gained,p.Lys456Ter,ENST00000521843,;GRIA1,stop_gained,p.Lys525Ter,ENST00000285900,;GRIA1,stop_gained,p.Lys535Ter,ENST00000448073,;GRIA1,stop_gained,p.Lys525Ter,ENST00000340592,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	1630	124	150	SUCCESS
FBXL7	23194	.	GRCh37	5	15936796	15936796	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	47	0	ENST00000504595.1:c.977T>A	p.Ile326Asn	p.I326N	ENST00000504595	NM_012304.4	326	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS54833.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATCAAGG	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.365)	.	deleterious(0)	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Ile314Asn,ENST00000329673,;FBXL7,missense_variant,p.Ile279Asn,ENST00000510662,;FBXL7,missense_variant,p.Ile326Asn,ENST00000504595,;MIR887,downstream_gene_variant,,ENST00000401258,;	1458	47	55	SUCCESS
ATP10B	23120	.	GRCh37	5	160071197	160071197	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	113	0	ENST00000327245.5:c.816A>T	p.Arg272=	p.R272=	ENST00000327245	NM_025153.2	272	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS43394.1	816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTCGAAG	NONE	.	.	Superfamily_domains:0049471,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,synonymous_variant,p.%3D,ENST00000327245,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;ATP10B,non_coding_transcript_exon_variant,,ENST00000326831,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;	1663	113	106	SUCCESS
DOCK2	1794	.	GRCh37	5	169174411	169174411	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	113	0	ENST00000256935.8:c.2279G>A	p.Gly760Asp	p.G760D	ENST00000256935	NM_004946.2	760	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4371.1	2279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGCAAAG	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000256935	.	23/52	.	.	.	.	.	.	.	.	.	23/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.23)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Gly760Asp,ENST00000256935,;DOCK2,missense_variant,p.Gly252Asp,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,upstream_gene_variant,,ENST00000520181,;DOCK2,missense_variant,p.Gly760Asp,ENST00000524185,;	2359	113	95	SUCCESS
GABRP	2568	.	GRCh37	5	170215599	170215599	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	72	0	ENST00000265294.4:c.-21T>A		p.*7*	ENST00000265294	NM_014211.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4375.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTTGGTGT	NONE	.	.	.	.	.	ENSP00000430100	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000518525	Transcript	.	.	ENSG00000094755	4089	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRP_HUMAN	GABRP	HGNC	E5RK74_HUMAN,E5RHU0_HUMAN,E5RHF6_HUMAN,E5RGF7_HUMAN,E5RG98_HUMAN	.	UPI000003C534	SNV	GABRP,5_prime_UTR_variant,,ENST00000522868,;GABRP,5_prime_UTR_variant,,ENST00000519598,;GABRP,5_prime_UTR_variant,,ENST00000519196,;GABRP,5_prime_UTR_variant,,ENST00000519385,;GABRP,5_prime_UTR_variant,,ENST00000265294,;GABRP,5_prime_UTR_variant,,ENST00000521009,;GABRP,5_prime_UTR_variant,,ENST00000521481,;GABRP,5_prime_UTR_variant,,ENST00000518525,;GABRP,5_prime_UTR_variant,,ENST00000518122,;MIR4454,non_coding_transcript_exon_variant,,ENST00000518172,;GABRP,upstream_gene_variant,,ENST00000519137,;	444	72	81	SUCCESS
STC2	8614	.	GRCh37	5	172744922	172744922	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	78	0	ENST00000265087.4:c.837T>A	p.Leu279=	p.L279=	ENST00000265087	NM_003714.2	279	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4388.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCAAGGCC	NONE	.	.	hmmpanther:PTHR11245,hmmpanther:PTHR11245:SF2	.	.	ENSP00000265087	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000265087	Transcript	.	.	ENSG00000113739	11374	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STC2_HUMAN	STC2	HGNC	Q6FHC9_HUMAN,E5RG57_HUMAN,B3KNF2_HUMAN	.	UPI00001360B8	SNV	STC2,synonymous_variant,p.%3D,ENST00000265087,;STC2,downstream_gene_variant,,ENST00000520593,;	2147	78	87	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178541069	178541069	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	33	164	0	ENST00000251582.7:c.3435T>A	p.Asn1145Lys	p.N1145K	ENST00000251582	NM_014244.4	1145	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS4444.1	3435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCATTGAG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	.	.	ENSP00000251582	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.67)	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,missense_variant,p.Asn1145Lys,ENST00000251582,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000522937,;ADAMTS2,downstream_gene_variant,,ENST00000523450,;	3537	164	192	SUCCESS
RUFY1	80230	.	GRCh37	5	179016569	179016569	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	334	108	350	0	ENST00000319449.4:c.1049T>C	p.Ile350Thr	p.I350T	ENST00000319449	NM_025158.4	350	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS4445.2	1049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAATTTGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22835:SF84,hmmpanther:PTHR22835	.	.	ENSP00000325594	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000319449	Transcript	.	.	ENSG00000176783	19760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.363)	.	deleterious(0)	.	RUFY1_HUMAN	RUFY1	HGNC	.	.	UPI0000D74C3F	SNV	RUFY1,missense_variant,p.Ile350Thr,ENST00000319449,;RUFY1,missense_variant,p.Ile139Thr,ENST00000508609,;RUFY1,missense_variant,p.Ile242Thr,ENST00000437570,;RUFY1,missense_variant,p.Ile242Thr,ENST00000393438,;RUFY1,synonymous_variant,p.%3D,ENST00000377001,;RUFY1,intron_variant,,ENST00000502434,;RUFY1,non_coding_transcript_exon_variant,,ENST00000514238,;RUFY1,synonymous_variant,p.%3D,ENST00000393448,;RUFY1,non_coding_transcript_exon_variant,,ENST00000509797,;	1061	350	443	SUCCESS
MGAT1	4245	.	GRCh37	5	180219134	180219134	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	73	0	ENST00000307826.4:c.838G>C	p.Glu280Gln	p.E280Q	ENST00000307826	NM_001114619.1	280	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS4458.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCCAGCT	NONE	.	.	Superfamily_domains:SSF53448,Pfam_domain:PF03071,Gene3D:3.90.550.10,hmmpanther:PTHR10468,hmmpanther:PTHR10468:SF0	.	.	ENSP00000404718	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000446023	Transcript	.	.	ENSG00000131446	7044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	.	.	MGAT1_HUMAN	MGAT1	HGNC	Q59G70_HUMAN,D6RIS2_HUMAN,D6RHZ8_HUMAN,D6RF69_HUMAN,D6RD15_HUMAN,D6RBS3_HUMAN,D6RB69_HUMAN,D6RAK2_HUMAN,D6RA48_HUMAN,D6R9U2_HUMAN	.	UPI000013CDF1	SNV	MGAT1,missense_variant,p.Glu280Gln,ENST00000446023,;MGAT1,missense_variant,p.Glu280Gln,ENST00000393340,;MGAT1,missense_variant,p.Glu280Gln,ENST00000307826,;MGAT1,missense_variant,p.Glu280Gln,ENST00000427865,;MGAT1,missense_variant,p.Glu280Gln,ENST00000333055,;MGAT1,downstream_gene_variant,,ENST00000514283,;MGAT1,downstream_gene_variant,,ENST00000507384,;MGAT1,downstream_gene_variant,,ENST00000514438,;MGAT1,downstream_gene_variant,,ENST00000506269,;MGAT1,downstream_gene_variant,,ENST00000512695,;MGAT1,downstream_gene_variant,,ENST00000513431,;MGAT1,downstream_gene_variant,,ENST00000506889,;MGAT1,downstream_gene_variant,,ENST00000502678,;MGAT1,downstream_gene_variant,,ENST00000504671,;CTC-205M6.5,upstream_gene_variant,,ENST00000562870,;MGAT1,downstream_gene_variant,,ENST00000505682,;MGAT1,downstream_gene_variant,,ENST00000504385,;MGAT1,downstream_gene_variant,,ENST00000514760,;	1589	73	83	SUCCESS
IL7R	3575	.	GRCh37	5	35874564	35874564	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	42	108	0	ENST00000303115.3:c.720T>A	p.Pro240=	p.P240=	ENST00000303115	NM_002185.3	240	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3911.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCTATCTT	BUFFER|p.L243_T244insKAGS|c.729_730ins12|4,BUFFER|p.T244I|c.731C>T|3	.	.	hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF21	.	.	ENSP00000306157	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000303115	Transcript	1	.	ENSG00000168685	6024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL7RA_HUMAN	IL7R	HGNC	D6RG28_HUMAN,D6RCR9_HUMAN	.	UPI000013E861	SNV	IL7R,synonymous_variant,p.%3D,ENST00000303115,;IL7R,intron_variant,,ENST00000343305,;IL7R,intron_variant,,ENST00000505093,;IL7R,intron_variant,,ENST00000506850,;IL7R,upstream_gene_variant,,ENST00000505875,;IL7R,non_coding_transcript_exon_variant,,ENST00000509668,;IL7R,intron_variant,,ENST00000514217,;	849	108	133	SUCCESS
GDNF	2668	.	GRCh37	5	37835590	37835590	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	36	0	ENST00000326524.2:c.-26-666A>G		p.*9*	ENST00000326524	NM_000514.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54845.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTATGGG	NONE	.	.	.	.	.	ENSP00000409007	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427982	Transcript	1	.	ENSG00000168621	4232	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDNF_HUMAN	GDNF	HGNC	.	.	UPI0000E20965	SNV	GDNF,5_prime_UTR_variant,,ENST00000344622,;GDNF,5_prime_UTR_variant,,ENST00000502572,;GDNF,intron_variant,,ENST00000381826,;GDNF,intron_variant,,ENST00000326524,;GDNF,intron_variant,,ENST00000515058,;GDNF,intron_variant,,ENST00000427982,;GDNF,upstream_gene_variant,,ENST00000510177,;GDNF-AS1,upstream_gene_variant,,ENST00000503382,;	.	36	28	SUCCESS
FYB	0	.	GRCh37	5	39130702	39130702	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	100	0	ENST00000540520.1:c.1860T>A	p.Ser620Arg	p.S620R	ENST00000540520	NM_001243093.1	620	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS58945.1	1860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCACTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF10	.	.	ENSP00000442840	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000540520	Transcript	.	.	ENSG00000082074	4036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0.01)	.	FYB_HUMAN	FYB	HGNC	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	.	UPI00017A75FB	SNV	FYB,missense_variant,p.Ser610Arg,ENST00000515010,;FYB,missense_variant,p.Ser610Arg,ENST00000505428,;FYB,missense_variant,p.Ser610Arg,ENST00000351578,;FYB,missense_variant,p.Ser620Arg,ENST00000540520,;FYB,missense_variant,p.Ser610Arg,ENST00000512982,;	1946	100	115	SUCCESS
MROH2B	133558	.	GRCh37	5	41048467	41048467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	119	0	ENST00000399564.4:c.1643T>A	p.Leu548Gln	p.L548Q	ENST00000399564	NM_173489.4	548	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS47202.1	1643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATAGGTCT	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15	.	.	ENSP00000382476	.	16/42	.	.	.	.	.	.	.	.	.	16/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	deleterious(0.01)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Leu103Gln,ENST00000506092,;MROH2B,missense_variant,p.Leu548Gln,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	2094	119	123	SUCCESS
C5orf28	0	.	GRCh37	5	43454119	43454119	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	51	0	ENST00000397080.3:c.-48A>T		p.*16*	ENST00000397080	NM_022483.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3945.1	.	MUTECT|MUSE	.	AACAGTCTATT	NONE	.	.	.	.	.	ENSP00000426067	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000500337	Transcript	.	.	ENSG00000151881	26139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE028_HUMAN	C5orf28	HGNC	Q6GMT5_HUMAN,D6RAV6_HUMAN	.	UPI000006FA64	SNV	C5orf28,5_prime_UTR_variant,,ENST00000397080,;C5orf28,5_prime_UTR_variant,,ENST00000500337,;C5orf28,5_prime_UTR_variant,,ENST00000506860,;C5orf28,5_prime_UTR_variant,,ENST00000512085,;C5orf28,intron_variant,,ENST00000510130,;C5orf28,intron_variant,,ENST00000537319,;C5orf28,intron_variant,,ENST00000511525,;	285	51	53	SUCCESS
CDC20B	166979	.	GRCh37	5	54429246	54429246	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	73	0	ENST00000381375.2:c.691G>C	p.Asp231His	p.D231H	ENST00000381375		231	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS54852.1	691	RADIA|MUTECT|MUSE	.	GTAGTCATTTC	NONE	.	.	hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000370781	.	6/12	.	.	.	.	.	.	.	.	COSM3994348,COSM3994349,COSM3994350	6/12	PASS	ENST00000381375	Transcript	.	.	ENSG00000164287	24222	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	probably_damaging(0.99)	.	deleterious(0)	1,1,1	CD20B_HUMAN	CDC20B	HGNC	.	.	UPI0000D61625	SNV	CDC20B,missense_variant,p.Asp231His,ENST00000296733,;CDC20B,missense_variant,p.Asp231His,ENST00000322374,;CDC20B,missense_variant,p.Asp231His,ENST00000334206,;CDC20B,missense_variant,p.Asp231His,ENST00000381375,;CDC20B,downstream_gene_variant,,ENST00000331730,;CDC20B,missense_variant,p.Asp231His,ENST00000513180,;CDC20B,downstream_gene_variant,,ENST00000507931,;	837	73	91	SUCCESS
CDC20B	166979	.	GRCh37	5	54429259	54429259	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	78	0	ENST00000381375.2:c.678T>A	p.Thr226=	p.T226=	ENST00000381375		226	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54852.1	678	RADIA|MUTECT|MUSE	.	AGACCAGTAAT	NONE	.	.	hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918	.	.	ENSP00000370781	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000381375	Transcript	.	.	ENSG00000164287	24222	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD20B_HUMAN	CDC20B	HGNC	.	.	UPI0000D61625	SNV	CDC20B,synonymous_variant,p.%3D,ENST00000296733,;CDC20B,synonymous_variant,p.%3D,ENST00000322374,;CDC20B,synonymous_variant,p.%3D,ENST00000334206,;CDC20B,synonymous_variant,p.%3D,ENST00000381375,;CDC20B,downstream_gene_variant,,ENST00000331730,;CDC20B,synonymous_variant,p.%3D,ENST00000513180,;CDC20B,downstream_gene_variant,,ENST00000507931,;	824	78	100	SUCCESS
IL31RA	133396	.	GRCh37	5	55204371	55204371	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	61	0	ENST00000447346.2:c.1501+132A>T		p.*501*	ENST00000447346	NM_001242636.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3970.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAAATCTC	NONE	.	.	.	.	.	ENSP00000415900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000447346	Transcript	1	.	ENSG00000164509	18969	.	.	MODIFIER	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL31R_HUMAN	IL31RA	HGNC	.	.	UPI00001A41DC	SNV	IL31RA,missense_variant,p.Asn545Tyr,ENST00000396836,;IL31RA,missense_variant,p.Asn403Tyr,ENST00000297015,;IL31RA,intron_variant,,ENST00000447346,;IL31RA,intron_variant,,ENST00000490985,;IL31RA,intron_variant,,ENST00000359040,;IL31RA,intron_variant,,ENST00000354961,;IL31RA,intron_variant,,ENST00000396834,;	.	61	77	SUCCESS
ANKRD55	79722	.	GRCh37	5	55407265	55407265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	27	139	0	ENST00000341048.4:c.1310T>A	p.Leu437His	p.L437H	ENST00000341048	NM_024669.2	437	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS34161.1	1310	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGAGACTC	NONE	.	.	hmmpanther:PTHR24158:SF21,hmmpanther:PTHR24158	.	.	ENSP00000342295	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000341048	Transcript	1	.	ENSG00000164512	25681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	deleterious_low_confidence(0)	.	ANR55_HUMAN	ANKRD55	HGNC	.	.	UPI00004572EF	SNV	ANKRD55,missense_variant,p.Leu149His,ENST00000434982,;ANKRD55,missense_variant,p.Leu437His,ENST00000341048,;ANKRD55,missense_variant,p.Leu394His,ENST00000504958,;ANKRD55,downstream_gene_variant,,ENST00000505970,;	1462	140	177	SUCCESS
DEPDC1B	55789	.	GRCh37	5	59899387	59899387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	45	0	ENST00000265036.5:c.1073A>T	p.Gln358Leu	p.Q358L	ENST00000265036	NM_018369.2	358	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3977.1	1073	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCTGAACC	NONE	.	.	Superfamily_domains:SSF48350,Gene3D:1.10.555.10,hmmpanther:PTHR16206:SF11,hmmpanther:PTHR16206,PROSITE_profiles:PS50238	.	.	ENSP00000265036	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000265036	Transcript	.	.	ENSG00000035499	24902	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.694)	.	tolerated(0.06)	.	DEP1B_HUMAN	DEPDC1B	HGNC	.	.	UPI000020C7D4	SNV	DEPDC1B,missense_variant,p.Gln358Leu,ENST00000453022,;DEPDC1B,missense_variant,p.Gln358Leu,ENST00000265036,;DEPDC1B,missense_variant,p.Gln331Leu,ENST00000545085,;DEPDC1B,downstream_gene_variant,,ENST00000509006,;DEPDC1B,3_prime_UTR_variant,,ENST00000512078,;	1141	45	54	SUCCESS
MARVELD2	153562	.	GRCh37	5	68715848	68715848	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	34	159	0	ENST00000325631.5:c.636A>T	p.Thr212=	p.T212=	ENST00000325631	NM_001038603.2	212	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34175.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACAGCTTA	NONE	.	.	Pfam_domain:PF01284,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3,PROSITE_profiles:PS51225,Transmembrane_helices:TMhelix	.	.	ENSP00000323264	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,synonymous_variant,p.%3D,ENST00000512803,;MARVELD2,synonymous_variant,p.%3D,ENST00000436532,;MARVELD2,synonymous_variant,p.%3D,ENST00000454295,;MARVELD2,synonymous_variant,p.%3D,ENST00000325631,;MARVELD2,synonymous_variant,p.%3D,ENST00000413223,;MARVELD2,downstream_gene_variant,,ENST00000515844,;	710	159	162	SUCCESS
MAP1B	4131	.	GRCh37	5	71411599	71411599	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	56	0	ENST00000296755.7:c.259T>A	p.Ser87Thr	p.S87T	ENST00000296755	NM_005909.3	87	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS4012.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACTCTGCA	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Ser87Thr,ENST00000511641,;MAP1B,missense_variant,p.Ser87Thr,ENST00000512974,;MAP1B,missense_variant,p.Ser87Thr,ENST00000296755,;MAP1B,non_coding_transcript_exon_variant,,ENST00000504183,;MAP1B,missense_variant,p.Ser87Thr,ENST00000513526,;	557	56	50	SUCCESS
MAP1B	4131	.	GRCh37	5	71491824	71491824	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	30	96	0	ENST00000296755.7:c.2642A>T	p.Glu881Val	p.E881V	ENST00000296755	NM_005909.3	881	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4012.1	2642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGAGAG	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Glu881Val,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	2940	96	128	SUCCESS
FAM169A	26049	.	GRCh37	5	74101006	74101006	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	64	0	ENST00000389156.4:c.774A>T	p.Leu258Phe	p.L258F	ENST00000389156	NM_015566.2	258	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS43330.1	774	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTAATGC	NONE	.	.	hmmpanther:PTHR22442:SF3,hmmpanther:PTHR22442	.	.	ENSP00000373808	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000389156	Transcript	.	.	ENSG00000198780	29138	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.477)	.	tolerated(0.06)	.	F169A_HUMAN	FAM169A	HGNC	D6RFI5_HUMAN,D6RC41_HUMAN,D6R953_HUMAN	.	UPI000013E38E	SNV	FAM169A,missense_variant,p.Leu198Phe,ENST00000510496,;FAM169A,missense_variant,p.Leu258Phe,ENST00000389156,;FAM169A,3_prime_UTR_variant,,ENST00000380515,;FAM169A,3_prime_UTR_variant,,ENST00000510609,;FAM169A,3_prime_UTR_variant,,ENST00000514215,;	865	64	73	SUCCESS
GPR98	0	.	GRCh37	5	89992795	89992795	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	23	106	0	ENST00000405460.2:c.7987T>A	p.Ser2663Thr	p.S2663T	ENST00000405460	NM_032119.3	2663	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS47246.1	7987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTCTGAA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	34/90	.	.	.	.	.	.	.	.	.	34/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ser2663Thr,ENST00000405460,;GPR98,missense_variant,p.Ser229Thr,ENST00000509621,;	8083	106	142	SUCCESS
MCTP1	79772	.	GRCh37	5	94230454	94230454	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	57	0	ENST00000515393.1:c.1739T>A	p.Leu580Gln	p.L580Q	ENST00000515393	NM_024717.4	580	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS34203.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCAGCACC	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:2.60.40.150,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,missense_variant,p.Leu359Gln,ENST00000505208,;MCTP1,missense_variant,p.Leu313Gln,ENST00000429576,;MCTP1,missense_variant,p.Leu580Gln,ENST00000515393,;MCTP1,missense_variant,p.Leu359Gln,ENST00000312216,;MCTP1,missense_variant,p.Leu300Gln,ENST00000508509,;MCTP1,missense_variant,p.Leu241Gln,ENST00000512425,;MCTP1,missense_variant,p.Leu96Gln,ENST00000505078,;MCTP1,missense_variant,p.Leu181Gln,ENST00000506568,;	1739	57	86	SUCCESS
MCTP1	79772	.	GRCh37	5	94353130	94353130	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	55	0	ENST00000515393.1:c.779T>A	p.Met260Lys	p.M260K	ENST00000515393	NM_024717.4	260	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS34203.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACATTCCG	BUFFER|p.P258S|c.772C>T|3	.	.	Superfamily_domains:SSF49562,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	tolerated(0.06)	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,missense_variant,p.Met39Lys,ENST00000505208,;MCTP1,missense_variant,p.Met21Lys,ENST00000507214,;MCTP1,missense_variant,p.Met260Lys,ENST00000515393,;MCTP1,missense_variant,p.Met54Lys,ENST00000510732,;MCTP1,missense_variant,p.Met39Lys,ENST00000505465,;MCTP1,missense_variant,p.Met20Lys,ENST00000514780,;MCTP1,missense_variant,p.Met69Lys,ENST00000503301,;MCTP1,missense_variant,p.Met39Lys,ENST00000429576,;MCTP1,missense_variant,p.Met39Lys,ENST00000312216,;MCTP1,missense_variant,p.Met39Lys,ENST00000508509,;MCTP1,intron_variant,,ENST00000512425,;MCTP1,non_coding_transcript_exon_variant,,ENST00000513695,;MCTP1,non_coding_transcript_exon_variant,,ENST00000513857,;	779	55	75	SUCCESS
ELL2	22936	.	GRCh37	5	95297500	95297500	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	87	0	ENST00000237853.4:c.-75A>C		p.*25*	ENST00000237853	NM_012081.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4080.1	.	MUTECT|MUSE	.	GGGCTTCTGCA	NONE	.	.	.	.	.	ENSP00000237853	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,5_prime_UTR_variant,,ENST00000513343,;ELL2,5_prime_UTR_variant,,ENST00000431061,;ELL2,5_prime_UTR_variant,,ENST00000237853,;AC008592.7,downstream_gene_variant,,ENST00000506070,;CTD-2337A12.1,upstream_gene_variant,,ENST00000502645,;CTD-2337A12.1,upstream_gene_variant,,ENST00000511775,;ELL2,upstream_gene_variant,,ENST00000506628,;ELL2,upstream_gene_variant,,ENST00000515020,;	276	87	73	SUCCESS
LNPEP	4012	.	GRCh37	5	96329587	96329587	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	95	1	ENST00000231368.5:c.1319A>T	p.Glu440Val	p.E440V	ENST00000231368	NM_005575.2	440	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4087.1	1319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGAGGAGA	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	.	.	ENSP00000231368	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000231368	Transcript	.	.	ENSG00000113441	6656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LCAP_HUMAN	LNPEP	HGNC	.	.	UPI000013C94B	SNV	LNPEP,missense_variant,p.Glu426Val,ENST00000395770,;LNPEP,missense_variant,p.Glu440Val,ENST00000231368,;LNPEP,upstream_gene_variant,,ENST00000473914,;LNPEP,upstream_gene_variant,,ENST00000474122,;	2011	96	99	SUCCESS
SCML4	256380	.	GRCh37	6	108093559	108093559	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	35	0	ENST00000369020.3:c.-28T>A		p.*10*	ENST00000369020	NM_198081.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5060.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGAGGTGA	NONE	.	.	.	.	.	ENSP00000358016	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000369020	Transcript	.	.	ENSG00000146285	21397	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCML4_HUMAN	SCML4	HGNC	.	.	UPI0000EE1E57	SNV	SCML4,5_prime_UTR_variant,,ENST00000369020,;SCML4,intron_variant,,ENST00000369022,;SCML4,upstream_gene_variant,,ENST00000440927,;SCML4,intron_variant,,ENST00000426221,;SCML4,intron_variant,,ENST00000463507,;SCML4,intron_variant,,ENST00000473515,;SCML4,upstream_gene_variant,,ENST00000459992,;	219	35	34	SUCCESS
TRDN	10345	.	GRCh37	6	123851680	123851680	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	199	0	ENST00000334268.4:c.455A>T	p.Glu152Val	p.E152V	ENST00000334268		152	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS55053.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTCTTGT	NONE	.	.	hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0,Pfam_domain:PF05279	.	.	ENSP00000381240	.	5/41	.	.	.	.	.	.	.	.	.	5/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Glu152Val,ENST00000398178,;TRDN,missense_variant,p.Glu152Val,ENST00000334268,;TRDN,missense_variant,p.Glu11Val,ENST00000422596,;TRDN,missense_variant,p.Glu152Val,ENST00000546248,;TRDN,missense_variant,p.Glu152Val,ENST00000542443,;TRDN,missense_variant,p.Glu11Val,ENST00000359698,;	477	199	108	SUCCESS
SOGA3	387104	.	GRCh37	6	127837602	127837602	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	24	0	ENST00000481848.2:c.158C>A	p.Thr53Lys	p.T53K	ENST00000481848		53	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS43505.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATTGTCTGT	NONE	.	.	hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2	.	.	ENSP00000451768	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000556132	Transcript	.	.	ENSG00000214338	21494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious_low_confidence(0.02)	.	SOGA3_HUMAN	SOGA3	HGNC	A5PLQ8_HUMAN	.	UPI0000419273	SNV	SOGA3,missense_variant,p.Thr53Lys,ENST00000525778,;SOGA3,missense_variant,p.Thr53Lys,ENST00000556132,;SOGA3,missense_variant,p.Thr53Lys,ENST00000465909,;SOGA3,missense_variant,p.Thr53Lys,ENST00000368268,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;SOGA3,missense_variant,p.Thr53Lys,ENST00000481848,;	1023	24	15	SUCCESS
AHI1	54806	.	GRCh37	6	135644338	135644338	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	101	0	ENST00000265602.6:c.3290A>T	p.Gln1097Leu	p.Q1097L	ENST00000265602	NM_001134831.1	1097	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS47483.1	3290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGTCCC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR22847:SF50,hmmpanther:PTHR22847,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000356774	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000367800	Transcript	.	.	ENSG00000135541	21575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	tolerated(0.08)	.	AHI1_HUMAN	AHI1	HGNC	.	.	UPI00000701FB	SNV	AHI1,missense_variant,p.Gln1097Leu,ENST00000457866,;AHI1,missense_variant,p.Gln597Leu,ENST00000367799,;AHI1,missense_variant,p.Gln451Leu,ENST00000417892,;AHI1,missense_variant,p.Gln1097Leu,ENST00000367800,;AHI1,missense_variant,p.Gln1097Leu,ENST00000265602,;AHI1,missense_variant,p.Gln495Leu,ENST00000475846,;AHI1,non_coding_transcript_exon_variant,,ENST00000533029,;AHI1,intron_variant,,ENST00000531788,;	3507	101	65	SUCCESS
SYNE1	23345	.	GRCh37	6	152651184	152651184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	66	0	ENST00000367255.5:c.14636G>T	p.Cys4879Phe	p.C4879F	ENST00000367255	NM_182961.3	4879	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS5236.2	14636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCACATTCT	NONE	.	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	78/146	.	.	.	.	.	.	.	.	.	78/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Cys4808Phe,ENST00000448038,;SYNE1,missense_variant,p.Cys4879Phe,ENST00000367255,;SYNE1,missense_variant,p.Cys4808Phe,ENST00000423061,;SYNE1,missense_variant,p.Cys4626Phe,ENST00000341594,;SYNE1,missense_variant,p.Cys4879Phe,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;	15238	66	59	SUCCESS
TIAM2	26230	.	GRCh37	6	155458554	155458554	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	33	109	0	ENST00000318981.5:c.1438A>T	p.Thr480Ser	p.T480S	ENST00000318981	NM_012454.3	480	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS34558.1	1438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTACAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826	.	.	ENSP00000437188	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.32)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Thr480Ser,ENST00000528535,;TIAM2,missense_variant,p.Thr480Ser,ENST00000461783,;TIAM2,missense_variant,p.Thr480Ser,ENST00000456144,;TIAM2,missense_variant,p.Thr480Ser,ENST00000318981,;TIAM2,missense_variant,p.Thr480Ser,ENST00000529824,;TIAM2,missense_variant,p.Thr480Ser,ENST00000360366,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;	2711	109	96	SUCCESS
ARID1B	57492	.	GRCh37	6	157100005	157100005	+	synonymous_variant	Silent	SNP	C	C	A	rs184815562	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	68	0	ENST00000346085.5:c.942C>A	p.Gly314=	p.G314=	ENST00000346085	NM_020732.3	314	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55072.1	942	MUTECT|MUSE|VARSCANS	likely_benign	GGCGGCGGAGG	SITE|p.G314G|c.942C>A|3,SITE|p.G256G|c.768C>A|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	.	.	ENSP00000344546	.	1/20	.	.	.	.	.	.	.	.	rs184815562,COSM3781610,COSM3781609	1/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	0,1,1	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,upstream_gene_variant,,ENST00000414678,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;RP11-230C9.2,upstream_gene_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;	943	69	36	SUCCESS
GPX5	2880	.	GRCh37	6	28499588	28499588	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs532584620	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	56	70	0	ENST00000412168.2:c.275A>G	p.Tyr92Cys	p.Y92C	ENST00000412168	NM_001509.2	92	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4652.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTATGGTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF9,Pfam_domain:PF00255,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Superfamily_domains:SSF52833	.	.	ENSP00000392398	.	3/5	.	.	.	.	.	.	.	.	rs532584620	3/5	PASS	ENST00000412168	Transcript	.	.	ENSG00000224586	4557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.17)	.	GPX5_HUMAN	GPX5	HGNC	.	.	UPI0000031FD7	SNV	GPX5,missense_variant,p.Tyr92Cys,ENST00000412168,;GPX5,intron_variant,,ENST00000469384,;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,intron_variant,,ENST00000483784,;GPX6,upstream_gene_variant,,ENST00000483058,;	364	70	81	SUCCESS
SCAND3	0	.	GRCh37	6	28540129	28540129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	194	178	0	ENST00000452236.2:c.3537T>A	p.Ser1179Arg	p.S1179R	ENST00000452236	NM_052923.1	1179	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS34355.1	3537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCACTGAT	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF90,Superfamily_domains:SSF53098	.	.	ENSP00000395259	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000452236	Transcript	.	.	ENSG00000232040	13851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.54)	.	SCND3_HUMAN	SCAND3	HGNC	.	.	UPI00001618B7	SNV	SCAND3,missense_variant,p.Ser1179Arg,ENST00000452236,;SCAND3,downstream_gene_variant,,ENST00000530247,;	4155	178	278	SUCCESS
HLA-G	3135	.	GRCh37	6	29797324	29797324	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	98	112	0	ENST00000360323.6:c.749A>T	p.Gln250Leu	p.Q250L	ENST00000360323		250	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4668.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGGACG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF149,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000412927	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000428701	Transcript	.	.	ENSG00000204632	4964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious_low_confidence(0)	.	HLAG_HUMAN	HLA-G	HGNC	Q6DU14_HUMAN,M9TK49_HUMAN,Q9UM45_HUMAN,Q9TP14_HUMAN,Q9TP13_HUMAN,Q9TP12_HUMAN,Q9TP11_HUMAN,Q9TP10_HUMAN,Q95356_HUMAN,Q7JFN0_HUMAN,Q6DL89_HUMAN,Q6DL88_HUMAN,Q6DL87_HUMAN,Q6DL86_HUMAN,Q6DL85_HUMAN,Q6B9Y6_HUMAN,Q6B9Y4_HUMAN,Q6B9Y3_HUMAN,Q6B9Y2_HUMAN,Q6B9Y1_HUMAN,Q6B845_HUMAN,Q68YS4_HUMAN,Q68YS3_HUMAN,Q68YS2_HUMAN,Q68YS1_HUMAN,Q68YS0_HUMAN,Q68YR9_HUMAN,Q68YR8_HUMAN,Q30182_HUMAN,O78136_HUMAN,O78135_HUMAN,O78134_HUMAN,O78133_HUMAN,O78131_HUMAN,O19809_HUMAN,O19807_HUMAN,O19806_HUMAN,O19805_HUMAN,O19768_HUMAN,O19767_HUMAN,O19766_HUMAN,O19745_HUMAN,O19684_HUMAN,O19659_HUMAN,O19658_HUMAN,O02928_HUMAN,O02927_HUMAN,O02926_HUMAN,O02923_HUMAN,J3JRT1_HUMAN,C7SJ32_HUMAN,C0JTC7_HUMAN,C0JT30_HUMAN,C0JT28_HUMAN,C0JSV3_HUMAN,C0JSV2_HUMAN,B5LFX9_HUMAN,B1P198_HUMAN,A5HSK0_HUMAN	.	UPI000000166E	SNV	HLA-G,missense_variant,p.Gln255Leu,ENST00000376828,;HLA-G,missense_variant,p.Gln250Leu,ENST00000360323,;HLA-G,missense_variant,p.Gln250Leu,ENST00000428701,;HLA-G,missense_variant,p.Gln158Leu,ENST00000376818,;HLA-G,intron_variant,,ENST00000376815,;HLA-G,missense_variant,p.Gln158Leu,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,upstream_gene_variant,,ENST00000443049,;	927	112	146	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31084505	31084505	+	intron_variant	Intron	SNP	T	T	A	rs758844723	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	33	0	ENST00000259881.9:c.-229+1837T>A		p.*77*	ENST00000259881	NM_014068.2	296		0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS34389.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGTAGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23207:SF1,hmmpanther:PTHR23207	.	.	ENSP00000365465	.	2/2	.	.	.	.	.	.	.	.	rs758844723	2/2	PASS	ENST00000376288	Transcript	.	.	ENSG00000204539	1802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	CDSN	HGNC	Q7Z560_HUMAN,G8JLG2_HUMAN	.	UPI00001AFE92	SNV	CDSN,missense_variant,p.Tyr296Phe,ENST00000376288,;PSORS1C1,intron_variant,,ENST00000259881,;C6orf15,upstream_gene_variant,,ENST00000259870,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000467107,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,intron_variant,,ENST00000493289,;PSORS1C1,intron_variant,,ENST00000548049,;PSORS1C1,intron_variant,,ENST00000552747,;PSORS1C1,intron_variant,,ENST00000550838,;	914	33	64	SUCCESS
EGFL8	80864	.	GRCh37	6	32134215	32134215	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	109	89	0	ENST00000333845.6:c.102-60T>C		p.*34*	ENST00000333845	NM_030652.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4743.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCTGGCTC	NONE	.	.	.	.	.	ENSP00000378888	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395512	Transcript	.	.	ENSG00000241404	13944	.	.	MODIFIER	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFL8_HUMAN	EGFL8	HGNC	.	.	UPI000006FB40	SNV	EGFL8,intron_variant,,ENST00000395512,;EGFL8,intron_variant,,ENST00000333845,;EGFL8,intron_variant,,ENST00000432129,;AGPAT1,downstream_gene_variant,,ENST00000395496,;PPT2,downstream_gene_variant,,ENST00000395523,;PPT2,downstream_gene_variant,,ENST00000324816,;AGPAT1,downstream_gene_variant,,ENST00000375107,;AGPAT1,downstream_gene_variant,,ENST00000395499,;AGPAT1,downstream_gene_variant,,ENST00000375104,;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000395497,;AGPAT1,downstream_gene_variant,,ENST00000336984,;PPT2,downstream_gene_variant,,ENST00000361568,;PPT2,downstream_gene_variant,,ENST00000375137,;AGPAT1,downstream_gene_variant,,ENST00000412465,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;PPT2-EGFL8,non_coding_transcript_exon_variant,,ENST00000453656,;PPT2,downstream_gene_variant,,ENST00000493548,;EGFL8,upstream_gene_variant,,ENST00000489721,;AGPAT1,downstream_gene_variant,,ENST00000476663,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000428388,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000421600,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000583227,;EGFL8,non_coding_transcript_exon_variant,,ENST00000466239,;PPT2-EGFL8,intron_variant,,ENST00000422437,;EGFL8,intron_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;	.	89	148	SUCCESS
XPO5	57510	.	GRCh37	6	43526298	43526298	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	109	102	0	ENST00000265351.7:c.1252A>T	p.Ser418Cys	p.S418C	ENST00000265351	NM_020750.2	418	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS47430.1	1252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTAGGGC	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000265351	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,missense_variant,p.Ser418Cys,ENST00000265351,;RP3-337H4.10,upstream_gene_variant,,ENST00000607635,;XPO5,non_coding_transcript_exon_variant,,ENST00000424378,;XPO5,intron_variant,,ENST00000496341,;	1463	102	149	SUCCESS
TMEM63B	55362	.	GRCh37	6	44116248	44116248	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	61	0	ENST00000259746.9:c.1122-2A>T		p.X374_splice	ENST00000259746		374		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34461.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAGCATC	NONE	.	.	.	.	.	ENSP00000259746	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259746	Transcript	.	.	ENSG00000137216	17735	.	.	HIGH	13/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM63B_HUMAN	TMEM63B	HGNC	E9PNG1_HUMAN	.	UPI000020DDEE	SNV	TMEM63B,splice_acceptor_variant,,ENST00000371893,;TMEM63B,splice_acceptor_variant,,ENST00000323267,;TMEM63B,splice_acceptor_variant,,ENST00000259746,;TMEM63B,splice_acceptor_variant,,ENST00000497371,;TMEM63B,splice_acceptor_variant,,ENST00000534326,;TMEM63B,splice_acceptor_variant,,ENST00000533121,;TMEM63B,downstream_gene_variant,,ENST00000525873,;	.	61	74	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47202430	47202430	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	49	0	ENST00000296861.2:c.1714A>T	p.Arg572Trp	p.R572W	ENST00000296861	NM_014452.4	572	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4921.1	1714	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097	.	.	ENSP00000296861	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,missense_variant,p.Arg572Trp,ENST00000296861,;	2108	49	97	SUCCESS
GPR111	0	.	GRCh37	6	47650129	47650129	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	25	95	0	ENST00000296862.1:c.1834T>A	p.Leu612Met	p.L612M	ENST00000296862		612	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	.	1834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTTGGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF54,Pfam_domain:PF00002	.	.	ENSP00000296862	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000296862	Transcript	.	.	ENSG00000164393	18991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	GP111_HUMAN	GPR111	HGNC	.	.	UPI000007411C	SNV	GPR111,missense_variant,p.Leu544Met,ENST00000398742,;GPR111,missense_variant,p.Leu612Met,ENST00000296862,;GPR111,missense_variant,p.Leu544Met,ENST00000507065,;GPR115,upstream_gene_variant,,ENST00000371220,;GPR111,missense_variant,p.Leu544Met,ENST00000467205,;	1834	95	132	SUCCESS
CD109	135228	.	GRCh37	6	74502490	74502490	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	51	0	ENST00000287097.5:c.2843A>C	p.Asn948Thr	p.N948T	ENST00000287097		948	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS4982.1	2843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAATTTGA	NONE	.	.	Superfamily_domains:SSF48239,Gene3D:1.50.10.20,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	.	.	ENSP00000287097	.	23/33	.	.	.	.	.	.	.	.	.	23/33	PASS	ENST00000287097	Transcript	.	.	ENSG00000156535	21685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.13)	.	CD109_HUMAN	CD109	HGNC	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN	.	UPI000013DE92	SNV	CD109,missense_variant,p.Asn948Thr,ENST00000287097,;CD109,missense_variant,p.Asn948Thr,ENST00000437994,;CD109,missense_variant,p.Asn871Thr,ENST00000422508,;CD109,non_coding_transcript_exon_variant,,ENST00000474094,;	2955	51	48	SUCCESS
IBTK	25998	.	GRCh37	6	82921267	82921267	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	98	442	0	ENST00000306270.7:c.2314A>T	p.Met772Leu	p.M772L	ENST00000306270	NM_015525.2	772	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS34490.1	2314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATGGTCA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000305721	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000306270	Transcript	.	.	ENSG00000005700	17853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	IBTK_HUMAN	IBTK	HGNC	.	.	UPI000041929F	SNV	IBTK,missense_variant,p.Met772Leu,ENST00000510291,;IBTK,missense_variant,p.Met571Leu,ENST00000503631,;IBTK,missense_variant,p.Met772Leu,ENST00000306270,;RNU6-130P,upstream_gene_variant,,ENST00000411112,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;	2864	442	269	SUCCESS
ORC3	23595	.	GRCh37	6	88375515	88375515	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	100	0	ENST00000392844.3:c.1994A>C	p.Asn665Thr	p.N665T	ENST00000392844	NM_181837.2	665	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS5012.1	1997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAATTCTG	NONE	.	.	hmmpanther:PTHR12748,hmmpanther:PTHR12748:SF0	.	.	ENSP00000257789	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000257789	Transcript	.	.	ENSG00000135336	8489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.01)	.	ORC3_HUMAN	ORC3	HGNC	U3KQL3_HUMAN	.	UPI00001B216A	SNV	ORC3,missense_variant,p.Asn522Thr,ENST00000546266,;ORC3,missense_variant,p.Asn665Thr,ENST00000392844,;ORC3,missense_variant,p.Asn666Thr,ENST00000257789,;ORC3,downstream_gene_variant,,ENST00000417380,;	2031	100	48	SUCCESS
MUC17	140453	.	GRCh37	7	100677847	100677847	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	41	122	0	ENST00000306151.4:c.3150C>T	p.Ser1050=	p.S1050=	ENST00000306151	NM_001040105.1	1050	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34711.1	3150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCACCAC	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;	3214	122	170	SUCCESS
VGF	7425	.	GRCh37	7	100807423	100807423	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	25	0	ENST00000249330.2:c.702T>A	p.Arg234=	p.R234=	ENST00000249330	NM_003378.3	234	cgT/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5712.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATACGCGC	NONE	.	.	hmmpanther:PTHR15159,hmmpanther:PTHR15159:SF2	.	.	ENSP00000249330	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249330	Transcript	.	.	ENSG00000128564	12684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGF_HUMAN	VGF	HGNC	.	.	UPI000006FC7B	SNV	VGF,synonymous_variant,p.%3D,ENST00000445482,;VGF,synonymous_variant,p.%3D,ENST00000249330,;AP1S1,downstream_gene_variant,,ENST00000337619,;AP1S1,downstream_gene_variant,,ENST00000429457,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000443943,;	942	25	21	SUCCESS
LRRC17	10234	.	GRCh37	7	102574534	102574534	+	synonymous_variant	Silent	SNP	A	A	T	rs769798303	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	108	0	ENST00000339431.4:c.174A>T	p.Thr58=	p.T58=	ENST00000339431	NM_001031692.2	58	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34721.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACATATCT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF22,Superfamily_domains:SSF52058	.	.	ENSP00000344242	.	2/4	.	.	.	.	.	.	.	.	rs769798303	2/4	PASS	ENST00000339431	Transcript	.	.	ENSG00000128606	16895	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC17_HUMAN	LRRC17	HGNC	C9JT74_HUMAN	.	UPI00000719CD	SNV	LRRC17,synonymous_variant,p.%3D,ENST00000339431,;LRRC17,synonymous_variant,p.%3D,ENST00000455453,;LRRC17,synonymous_variant,p.%3D,ENST00000249377,;FBXL13,intron_variant,,ENST00000379306,;FBXL13,intron_variant,,ENST00000456695,;FBXL13,intron_variant,,ENST00000455112,;FBXL13,intron_variant,,ENST00000379305,;FBXL13,intron_variant,,ENST00000379308,;FBXL13,intron_variant,,ENST00000393772,;FBXL13,intron_variant,,ENST00000313221,;FBXL13,intron_variant,,ENST00000436908,;FBXL13,intron_variant,,ENST00000477915,;LRRC17,downstream_gene_variant,,ENST00000498487,;LRRC17,upstream_gene_variant,,ENST00000485478,;FBXL13,upstream_gene_variant,,ENST00000468216,;FBXL13,intron_variant,,ENST00000448002,;	469	108	92	SUCCESS
PHF14	9678	.	GRCh37	7	11080358	11080358	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	290	105	428	1	ENST00000403050.3:c.2136A>T	p.Glu712Asp	p.E712D	ENST00000403050	NM_014660.3	712	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47542.1	2136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAAGGAGG	NONE	.	.	hmmpanther:PTHR13793:SF10,hmmpanther:PTHR13793	.	.	ENSP00000385795	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000403050	Transcript	.	.	ENSG00000106443	22203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	tolerated(0.21)	.	PHF14_HUMAN	PHF14	HGNC	.	.	UPI000020EB41	SNV	PHF14,missense_variant,p.Glu427Asp,ENST00000445996,;PHF14,missense_variant,p.Glu712Asp,ENST00000403050,;PHF14,upstream_gene_variant,,ENST00000481418,;PHF14,3_prime_UTR_variant,,ENST00000521747,;PHF14,3_prime_UTR_variant,,ENST00000423760,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;PHF14,downstream_gene_variant,,ENST00000497851,;	2588	429	396	SUCCESS
FOXP2	93986	.	GRCh37	7	114299675	114299675	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	27	147	0	ENST00000350908.4:c.1594A>T	p.Ser532Cys	p.S532C	ENST00000350908		532	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS43635.1	1669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACAGCTGG	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF12,hmmpanther:PTHR25042,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000386200	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000408937	Transcript	.	.	ENSG00000128573	13875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FOXP2_HUMAN	FOXP2	HGNC	.	.	UPI000007412B	SNV	FOXP2,missense_variant,p.Ser440Cys,ENST00000393489,;FOXP2,missense_variant,p.Ser557Cys,ENST00000408937,;FOXP2,missense_variant,p.Ser511Cys,ENST00000393498,;FOXP2,missense_variant,p.Ser347Cys,ENST00000393491,;FOXP2,missense_variant,p.Ser549Cys,ENST00000403559,;FOXP2,missense_variant,p.Ser532Cys,ENST00000393494,;FOXP2,missense_variant,p.Ser532Cys,ENST00000350908,;FOXP2,3_prime_UTR_variant,,ENST00000393500,;FOXP2,3_prime_UTR_variant,,ENST00000441290,;FOXP2,3_prime_UTR_variant,,ENST00000412402,;	2043	147	124	SUCCESS
ASZ1	136991	.	GRCh37	7	117060261	117060261	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	39	0	ENST00000284629.2:c.396A>G	p.Val132=	p.V132=	ENST00000284629	NM_130768.2	132	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS5772.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTACACA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24157,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000284629	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000284629	Transcript	.	.	ENSG00000154438	1350	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASZ1_HUMAN	ASZ1	HGNC	C9JP59_HUMAN,B7ZM20_HUMAN	.	UPI0000070EE2	SNV	ASZ1,synonymous_variant,p.%3D,ENST00000284629,;ASZ1,downstream_gene_variant,,ENST00000428663,;ASZ1,synonymous_variant,p.%3D,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;	459	39	35	SUCCESS
VWDE	221806	.	GRCh37	7	12409623	12409623	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780962187	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	133	0	ENST00000275358.3:c.2309C>T	p.Thr770Met	p.T770M	ENST00000275358	NM_001135924.1	770	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS47544.1	2309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGTTTGG	NONE	byFrequency	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67	.	.	ENSP00000275358	.	12/29	.	.	.	.	.	.	.	.	rs780962187,COSM1447752,COSM1447751	12/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.083)	.	tolerated(0.07)	0,1,1	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Thr770Met,ENST00000275358,;VWDE,missense_variant,p.Thr770Met,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	2498	133	128	SUCCESS
PLXNA4	91584	.	GRCh37	7	132192611	132192611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	66	0	ENST00000321063.4:c.842T>A	p.Val281Glu	p.V281E	ENST00000321063	NM_020911.1	281	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS43646.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCACGAGC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000352882	.	2/32	.	.	.	.	.	.	.	.	.	2/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Val281Glu,ENST00000321063,;PLXNA4,missense_variant,p.Val281Glu,ENST00000423507,;PLXNA4,missense_variant,p.Val281Glu,ENST00000359827,;PLXNA4,missense_variant,p.Val281Glu,ENST00000378539,;	1805	66	81	SUCCESS
MKRN1	23608	.	GRCh37	7	140171777	140171777	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	78	0	ENST00000255977.2:c.220A>T	p.Asn74Tyr	p.N74Y	ENST00000255977	NM_013446.3	74	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5860.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTGTCTC	NONE	.	.	Superfamily_domains:SSF90229,SMART_domains:SM00356,Gene3D:1m9oA00,Pfam_domain:PF00642,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37,PROSITE_profiles:PS50103	.	.	ENSP00000255977	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000255977	Transcript	.	.	ENSG00000133606	7112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MKRN1_HUMAN	MKRN1	HGNC	F5H0I9_HUMAN,C9JYX8_HUMAN,C9J031_HUMAN,C9IY57_HUMAN	.	UPI0000001C5F	SNV	MKRN1,missense_variant,p.Asn25Tyr,ENST00000473444,;MKRN1,missense_variant,p.Asn10Tyr,ENST00000480552,;MKRN1,missense_variant,p.Asn10Tyr,ENST00000474576,;MKRN1,missense_variant,p.Asn10Tyr,ENST00000494939,;MKRN1,missense_variant,p.Asn74Tyr,ENST00000443720,;MKRN1,missense_variant,p.Asn10Tyr,ENST00000467513,;MKRN1,missense_variant,p.Asn74Tyr,ENST00000255977,;MKRN1,missense_variant,p.Asn10Tyr,ENST00000471104,;MKRN1,5_prime_UTR_variant,,ENST00000437223,;MKRN1,non_coding_transcript_exon_variant,,ENST00000481705,;MKRN1,missense_variant,p.Asn74Tyr,ENST00000495305,;MKRN1,3_prime_UTR_variant,,ENST00000496169,;MKRN1,3_prime_UTR_variant,,ENST00000498535,;MKRN1,3_prime_UTR_variant,,ENST00000475180,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;	445	78	69	SUCCESS
PRSS1	5644	.	GRCh37	7	142459633	142459633	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	19	137	0	ENST00000311737.7:c.209A>T	p.Gln70Leu	p.Q70L	ENST00000311737	NM_002769.4	70	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5872.1	209	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGTGA	BUFFER|p.R68C|c.202C>T|3	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	deleterious(0.02)	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,missense_variant,p.Gln84Leu,ENST00000486171,;PRSS1,missense_variant,p.Gln70Leu,ENST00000311737,;PRSS1,missense_variant,p.Gln20Leu,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000485223,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000497041,;	215	137	127	SUCCESS
TRPV5	56302	.	GRCh37	7	142609803	142609803	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748929030	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	96	195	0	ENST00000265310.1:c.1633G>T	p.Ala545Ser	p.A545S	ENST00000265310	NM_019841.4	545	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5875.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCAGGTG	NONE	.	.	hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520	.	.	ENSP00000265310	.	13/15	.	.	.	.	.	.	.	.	rs748929030	13/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,missense_variant,p.Ala490Ser,ENST00000439304,;TRPV5,missense_variant,p.Ala545Ser,ENST00000265310,;	1982	196	161	SUCCESS
OR2A25	392138	.	GRCh37	7	143772118	143772118	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	38	145	1	ENST00000408898.2:c.806A>T	p.Gln269Leu	p.Q269L	ENST00000408898	NM_001004488.1	269	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS43669.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCAGAAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000386167	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408898	Transcript	.	.	ENSG00000221933	19562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.291)	.	tolerated(0.05)	.	O2A25_HUMAN	OR2A25	HGNC	.	.	UPI00002373C5	SNV	OR2A25,missense_variant,p.Gln269Leu,ENST00000408898,;OR2A41P,upstream_gene_variant,,ENST00000473586,;	844	146	126	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146825821	146825821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	37	156	0	ENST00000361727.3:c.976A>T	p.Ser326Cys	p.S326C	ENST00000361727	NM_014141.5	326	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS5889.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGCTCC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000354778	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	tolerated(0.11)	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,missense_variant,p.Ser326Cys,ENST00000361727,;	1492	156	158	SUCCESS
KCNH2	3757	.	GRCh37	7	150643965	150643965	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	86	0	ENST00000262186.5:c.3330G>T	p.Gln1110His	p.Q1110H	ENST00000262186	NM_000238.3	1110	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5910.1	3330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTGAGA	NONE	.	.	hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217	.	.	ENSP00000262186	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.648)	.	deleterious_low_confidence(0.01)	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,missense_variant,p.Gln1110His,ENST00000262186,;KCNH2,missense_variant,p.Gln770His,ENST00000330883,;KCNH2,missense_variant,p.Gln1014His,ENST00000392968,;KCNH2,downstream_gene_variant,,ENST00000430723,;KCNH2,downstream_gene_variant,,ENST00000532957,;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000461280,;	3732	86	45	SUCCESS
AGR2	10551	.	GRCh37	7	16832566	16832566	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	58	0	ENST00000419304.2:c.494A>G	p.Lys165Arg	p.K165R	ENST00000419304	NM_006408.3	165	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS5364.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTTCATG	NONE	.	.	Gene3D:3.40.30.10,hmmpanther:PTHR15337,hmmpanther:PTHR15337:SF1	.	.	ENSP00000391490	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000419304	Transcript	.	.	ENSG00000106541	328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.07)	.	AGR2_HUMAN	AGR2	HGNC	Q4JM46_HUMAN,C9J3E2_HUMAN	.	UPI0000040D1E	SNV	AGR2,missense_variant,p.Lys165Arg,ENST00000419304,;AGR2,missense_variant,p.Lys185Arg,ENST00000419572,;AGR2,3_prime_UTR_variant,,ENST00000450569,;AGR2,downstream_gene_variant,,ENST00000401412,;AGR2,downstream_gene_variant,,ENST00000412973,;AC073333.1,downstream_gene_variant,,ENST00000597084,;	647	58	46	SUCCESS
MACC1	346389	.	GRCh37	7	20198999	20198999	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	90	0	ENST00000332878.4:c.985T>A	p.Tyr329Asn	p.Y329N	ENST00000332878		329	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS5369.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATAAATGT	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Tyr329Asn,ENST00000589011,;MACC1,missense_variant,p.Tyr329Asn,ENST00000400331,;MACC1,missense_variant,p.Tyr329Asn,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	1294	90	77	SUCCESS
ITGB8	3696	.	GRCh37	7	20371329	20371329	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	30	0	ENST00000222573.4:c.-101T>A		p.*34*	ENST00000222573	NM_002214.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5370.1	.	RADIA|MUTECT|MUSE	.	CGTCCTAGCGA	NONE	.	.	.	.	.	ENSP00000222573	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000222573	Transcript	.	.	ENSG00000105855	6163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITB8_HUMAN	ITGB8	HGNC	B4DHD4_HUMAN	.	UPI000012DA14	SNV	ITGB8,5_prime_UTR_variant,,ENST00000222573,;ITGB8,intron_variant,,ENST00000537992,;CTA-293F17.1,non_coding_transcript_exon_variant,,ENST00000603156,;CTA-293F17.1,upstream_gene_variant,,ENST00000605357,;ITGB8,upstream_gene_variant,,ENST00000460204,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;	584	30	10	SUCCESS
DPY19L2P3	442524	.	GRCh37	7	29727191	29727191	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	39	0	ENST00000414296.2:n.870+176C>T		p.*290*	ENST00000414296				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	GTGTACTTACA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000414296	Transcript	.	.	ENSG00000227855	22367	.	.	MODIFIER	6/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DPY19L2P3	HGNC	.	.	.	SNV	DPY19L2P3,non_coding_transcript_exon_variant,,ENST00000602965,;DPY19L2P3,non_coding_transcript_exon_variant,,ENST00000602980,;ZNRF2P2,upstream_gene_variant,,ENST00000426767,;ZNRF2P2,upstream_gene_variant,,ENST00000442865,;DPY19L2P3,intron_variant,,ENST00000414296,;ZNRF2P2,upstream_gene_variant,,ENST00000454624,;	.	39	40	SUCCESS
NME8	51314	.	GRCh37	7	37936559	37936559	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	31	139	0	ENST00000199447.4:c.1632A>T	p.Ala544=	p.A544=	ENST00000199447	NM_016616.4	544	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5452.1	1632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAAAATT	NONE	.	.	hmmpanther:PTHR11349:SF45,hmmpanther:PTHR11349,Gene3D:3.30.70.141,Pfam_domain:PF00334,SMART_domains:SM00562,Superfamily_domains:SSF54919	.	.	ENSP00000199447	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000199447	Transcript	.	.	ENSG00000086288	16473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXND3_HUMAN	NME8	HGNC	.	.	UPI00000700CB	SNV	NME8,synonymous_variant,p.%3D,ENST00000440017,;NME8,synonymous_variant,p.%3D,ENST00000199447,;EPDR1,intron_variant,,ENST00000476620,;NME8,non_coding_transcript_exon_variant,,ENST00000476435,;	2004	139	144	SUCCESS
ADCY1	107	.	GRCh37	7	45614683	45614683	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	76	0	ENST00000297323.7:c.541A>T	p.Ser181Cys	p.S181C	ENST00000297323	NM_021116.2	181	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34631.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCAGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920	.	.	ENSP00000297323	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	deleterious(0.02)	.	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,missense_variant,p.Ser181Cys,ENST00000297323,;ADCY1,5_prime_UTR_variant,,ENST00000432715,;	563	76	81	SUCCESS
MMD2	221938	.	GRCh37	7	4959927	4959927	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1027956978	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	94	0	ENST00000404774.3:c.165C>A	p.Asn55Lys	p.N55K	ENST00000404774	NM_001100600.1	55	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS47529.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGTTGGA	NONE	.	.	hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF21,Pfam_domain:PF03006	.	.	ENSP00000384690	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000404774	Transcript	.	.	ENSG00000136297	30133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.29)	.	PAQRA_HUMAN	MMD2	HGNC	.	.	UPI000016199F	SNV	MMD2,missense_variant,p.Asn55Lys,ENST00000406755,;MMD2,missense_variant,p.Asn55Lys,ENST00000401401,;MMD2,missense_variant,p.Asn55Lys,ENST00000404774,;	360	94	73	SUCCESS
ZPBP	11055	.	GRCh37	7	50132767	50132767	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	61	0	ENST00000046087.2:c.24A>T	p.Pro8=	p.P8=	ENST00000046087	NM_007009.2	8	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5509.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCTGGGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000046087	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000046087	Transcript	.	.	ENSG00000042813	15662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZPBP1_HUMAN	ZPBP	HGNC	.	.	UPI0000073BD0	SNV	ZPBP,synonymous_variant,p.%3D,ENST00000419417,;ZPBP,synonymous_variant,p.%3D,ENST00000046087,;ZPBP,intron_variant,,ENST00000450231,;C7orf72,upstream_gene_variant,,ENST00000297001,;ZPBP,synonymous_variant,p.%3D,ENST00000413331,;	94	61	39	SUCCESS
EGFR	1956	.	GRCh37	7	55273271	55273271	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	29	145	0	ENST00000275493.2:c.3594A>T	p.Leu1198=	p.L1198=	ENST00000275493	NM_005228.3	1198	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5514.1	3594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTAAGGGT	NONE	.	.	PIRSF_domain:PIRSF000619	.	.	ENSP00000275493	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,synonymous_variant,p.%3D,ENST00000454757,;EGFR,synonymous_variant,p.%3D,ENST00000275493,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000485503,;	3771	145	143	SUCCESS
FSCN1	6624	.	GRCh37	7	5632579	5632579	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	106	1	ENST00000382361.3:c.12C>A	p.Asn4Lys	p.N4K	ENST00000382361	NM_003088.3	4	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS5342.1	12	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACGGCAC	NONE	.	.	hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF8,Gene3D:2.80.10.50,PIRSF_domain:PIRSF005682	.	.	ENSP00000371798	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000382361	Transcript	.	.	ENSG00000075618	11148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	deleterious(0)	.	FSCN1_HUMAN	FSCN1	HGNC	Q96IH1_HUMAN,H7BYX5_HUMAN,C9JPH9_HUMAN,C9JFC0_HUMAN,B3KTM9_HUMAN	.	UPI000003F063	SNV	FSCN1,missense_variant,p.Asn4Lys,ENST00000382361,;FSCN1,missense_variant,p.Asn4Lys,ENST00000340250,;FSCN1,upstream_gene_variant,,ENST00000447103,;FSCN1,upstream_gene_variant,,ENST00000444748,;FSCN1,upstream_gene_variant,,ENST00000405801,;	126	107	75	SUCCESS
ZNF12	7559	.	GRCh37	7	6737036	6737036	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	97	0	ENST00000405858.1:c.172A>T	p.Ser58Cys	p.S58C	ENST00000405858	NM_016265.3	58	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS47538.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCTGATAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF85,hmmpanther:PTHR24377,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000385939	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000405858	Transcript	.	.	ENSG00000164631	12902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	deleterious(0.04)	.	ZNF12_HUMAN	ZNF12	HGNC	.	.	UPI000020EAF7	SNV	ZNF12,missense_variant,p.Ser58Cys,ENST00000405858,;ZNF12,missense_variant,p.Ser22Cys,ENST00000404360,;ZNF12,missense_variant,p.Ser58Cys,ENST00000342651,;ZNF12,synonymous_variant,p.%3D,ENST00000394917,;AC073343.13,intron_variant,,ENST00000366167,;	714	97	72	SUCCESS
FKBP6	8468	.	GRCh37	7	72745693	72745693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	81	0	ENST00000252037.4:c.502C>A	p.Leu168Met	p.L168M	ENST00000252037	NM_003602.4	168	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS43595.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCTGAAA	NONE	.	.	hmmpanther:PTHR10516:SF10,hmmpanther:PTHR10516,Superfamily_domains:SSF48452	.	.	ENSP00000252037	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000252037	Transcript	.	.	ENSG00000077800	3722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.06)	.	FKBP6_HUMAN	FKBP6	HGNC	.	.	UPI000000165F	SNV	FKBP6,missense_variant,p.Leu168Met,ENST00000252037,;FKBP6,missense_variant,p.Leu138Met,ENST00000413573,;FKBP6,missense_variant,p.Leu163Met,ENST00000431982,;FKBP6,intron_variant,,ENST00000442793,;TRIM50,upstream_gene_variant,,ENST00000333149,;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,missense_variant,p.Leu168Met,ENST00000429879,;FKBP6,3_prime_UTR_variant,,ENST00000445032,;FKBP6,downstream_gene_variant,,ENST00000437013,;	571	81	76	SUCCESS
DTX2	113878	.	GRCh37	7	76112038	76112038	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	67	265	1	ENST00000324432.5:c.482A>T	p.Gln161Leu	p.Q161L	ENST00000324432	NM_020892.2	161	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5587.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCAGACCA	NONE	.	.	Superfamily_domains:SSF117839,SMART_domains:SM00678,Pfam_domain:PF02825,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21,PROSITE_profiles:PS50918	.	.	ENSP00000322885	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000324432	Transcript	.	.	ENSG00000091073	15973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DTX2_HUMAN	DTX2	HGNC	Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN	.	UPI00001413A2	SNV	DTX2,missense_variant,p.Gln70Leu,ENST00000446600,;DTX2,missense_variant,p.Gln161Leu,ENST00000307569,;DTX2,missense_variant,p.Gln161Leu,ENST00000324432,;DTX2,missense_variant,p.Gln161Leu,ENST00000413936,;DTX2,missense_variant,p.Gln161Leu,ENST00000446820,;DTX2,missense_variant,p.Gln161Leu,ENST00000430490,;DTX2,downstream_gene_variant,,ENST00000457529,;DTX2,downstream_gene_variant,,ENST00000435861,;DTX2,downstream_gene_variant,,ENST00000456590,;DTX2,downstream_gene_variant,,ENST00000442516,;DTX2,downstream_gene_variant,,ENST00000423646,;DTX2,downstream_gene_variant,,ENST00000451769,;DTX2,downstream_gene_variant,,ENST00000429179,;DTX2,downstream_gene_variant,,ENST00000425780,;DTX2,downstream_gene_variant,,ENST00000438930,;AC007078.4,upstream_gene_variant,,ENST00000479299,;DTX2,downstream_gene_variant,,ENST00000492339,;DTX2,downstream_gene_variant,,ENST00000472426,;	992	266	212	SUCCESS
UPK3B	105375355	.	GRCh37	7	76143358	76143358	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	32	95	0	ENST00000257632.5:c.721A>C	p.Thr241Pro	p.T241P	ENST00000257632		241	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS5588.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTACTCTT	NONE	.	.	hmmpanther:PTHR15446,hmmpanther:PTHR15446:SF16	.	.	ENSP00000441602	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000419923	Transcript	.	.	ENSG00000243566	21444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious_low_confidence(0.03)	.	UPK3B_HUMAN	UPK3B	HGNC	.	.	UPI00001AE7A4	SNV	UPK3B,missense_variant,p.Thr241Pro,ENST00000419923,;UPK3B,missense_variant,p.Thr241Pro,ENST00000257632,;UPK3B,missense_variant,p.Thr241Pro,ENST00000448265,;UPK3B,missense_variant,p.Thr186Pro,ENST00000394849,;UPK3B,synonymous_variant,p.%3D,ENST00000334348,;UPK3B,synonymous_variant,p.%3D,ENST00000443097,;UPK3B,non_coding_transcript_exon_variant,,ENST00000469114,;UPK3B,downstream_gene_variant,,ENST00000490360,;	946	95	92	SUCCESS
CACNA2D1	781	.	GRCh37	7	81603834	81603834	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs777463785	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	74	0	ENST00000356253.5:c.2026A>C	p.Asn676His	p.N676H	ENST00000356253		676	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS5598.1	1990	MUTECT|MUSE	.	AGTGTTATTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	25/39	.	.	.	.	.	.	.	.	rs777463785	25/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Asn676His,ENST00000356253,;CACNA2D1,missense_variant,p.Asn175His,ENST00000443883,;CACNA2D1,missense_variant,p.Asn664His,ENST00000356860,;CACNA2D1,upstream_gene_variant,,ENST00000535308,;CACNA2D1,upstream_gene_variant,,ENST00000486539,;	2329	74	63	SUCCESS
PCLO	27445	.	GRCh37	7	82544071	82544071	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	95	0	ENST00000333891.9:c.13231A>G	p.Thr4411Ala	p.T4411A	ENST00000333891	NM_033026.5	4411	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47630.1	13231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGTCCGTG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Thr1131Ala,ENST00000437081,;PCLO,missense_variant,p.Thr4411Ala,ENST00000333891,;PCLO,missense_variant,p.Thr4411Ala,ENST00000423517,;	13569	95	81	SUCCESS
SEMA3A	10371	.	GRCh37	7	83689783	83689783	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	37	187	0	ENST00000265362.4:c.545T>C	p.Ile182Thr	p.I182T	ENST00000265362	NM_006080.2	182	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS5599.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTATTAAA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.429)	.	tolerated(0.5)	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Ile182Thr,ENST00000265362,;SEMA3A,missense_variant,p.Ile182Thr,ENST00000436949,;	860	187	163	SUCCESS
SEMA3D	223117	.	GRCh37	7	84649627	84649627	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	74	0	ENST00000284136.6:c.1425T>A	p.Thr475=	p.T475=	ENST00000284136	NM_152754.2	475	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34676.1	1425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACAGTTCC	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	.	ENSP00000284136	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,synonymous_variant,p.%3D,ENST00000284136,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;	1469	74	63	SUCCESS
COL1A2	1278	.	GRCh37	7	94055788	94055788	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	120	0	ENST00000297268.6:c.3051A>T	p.Arg1017Ser	p.R1017S	ENST00000297268	NM_000089.3	1017	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS34682.1	3051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAGGTCT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	.	.	ENSP00000297268	.	46/52	.	.	.	.	.	.	.	.	.	46/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,missense_variant,p.Arg1017Ser,ENST00000297268,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,;COL1A2,upstream_gene_variant,,ENST00000464916,;	3522	120	93	SUCCESS
KPNA7	402569	.	GRCh37	7	98786068	98786068	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	89	0	ENST00000327442.6:c.755A>T	p.His252Leu	p.H252L	ENST00000327442	NM_001145715.1	252	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS47651.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTGCTGC	BUFFER|p.L249P|c.746T>C|3	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23316:SF11,hmmpanther:PTHR23316,Pfam_domain:PF00514,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000330878	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000327442	Transcript	.	.	ENSG00000185467	21839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	tolerated(0.06)	.	IMA8_HUMAN	KPNA7	HGNC	.	.	UPI00004193B5	SNV	KPNA7,missense_variant,p.His252Leu,ENST00000327442,;	795	89	106	SUCCESS
MTMR9	66036	.	GRCh37	8	11177226	11177226	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	75	0	ENST00000221086.3:c.1365G>A	p.Met455Ile	p.M455I	ENST00000221086	NM_015458.3	455	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS5979.1	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATGTCTTT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF56,Superfamily_domains:SSF52799	.	.	ENSP00000221086	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000221086	Transcript	.	.	ENSG00000104643	14596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.42)	.	MTMR9_HUMAN	MTMR9	HGNC	Q9Y4N6_HUMAN,B7Z291_HUMAN	.	UPI0000073CA7	SNV	MTMR9,missense_variant,p.Met370Ile,ENST00000526292,;MTMR9,missense_variant,p.Met455Ile,ENST00000221086,;AF131216.6,non_coding_transcript_exon_variant,,ENST00000498997,;MTMR9,3_prime_UTR_variant,,ENST00000530200,;	1838	75	78	SUCCESS
CSMD3	114788	.	GRCh37	8	113599330	113599330	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	27	94	0	ENST00000297405.5:c.3850A>T	p.Arg1284Ter	p.R1284*	ENST00000297405	NM_198123.1	1284	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS6315.1	3850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTGGCTG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	23/71	.	.	.	.	.	.	.	.	.	23/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,stop_gained,p.Arg1284Ter,ENST00000352409,;CSMD3,stop_gained,p.Arg1180Ter,ENST00000455883,;CSMD3,stop_gained,p.Arg1284Ter,ENST00000297405,;CSMD3,stop_gained,p.Arg624Ter,ENST00000339701,;CSMD3,stop_gained,p.Arg1244Ter,ENST00000343508,;	4095	94	146	SUCCESS
FER1L6	654463	.	GRCh37	8	125103790	125103790	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	94	139	0	ENST00000399018.1:c.4518T>C	p.Phe1506=	p.F1506=	ENST00000399018		1506	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS43767.1	4518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTTTCTGG	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	34/41	.	.	.	.	.	.	.	.	.	34/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,synonymous_variant,p.%3D,ENST00000522917,;FER1L6,synonymous_variant,p.%3D,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	4724	139	183	SUCCESS
TG	7038	.	GRCh37	8	133895200	133895200	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	31	167	1	ENST00000220616.4:c.1031A>T	p.Lys344Met	p.K344M	ENST00000220616	NM_003235.4	344	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS34944.1	1031	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAAGGAAA	NONE	.	.	Superfamily_domains:SSF57610,PIRSF_domain:PIRSF001831,SMART_domains:SM00211,Pfam_domain:PF00086,Gene3D:4.10.800.10,PROSITE_profiles:PS51162	.	.	ENSP00000220616	.	8/48	.	.	.	.	.	.	.	.	.	8/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Lys344Met,ENST00000220616,;TG,missense_variant,p.Lys344Met,ENST00000377869,;TG,non_coding_transcript_exon_variant,,ENST00000520769,;TG,downstream_gene_variant,,ENST00000523901,;	1071	168	208	SUCCESS
TG	7038	.	GRCh37	8	133899402	133899402	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	31	165	0	ENST00000220616.4:c.1785A>T	p.Leu595Phe	p.L595F	ENST00000220616	NM_003235.4	595	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS34944.1	1785	RADIA|MUTECT|MUSE|VARSCANS	.	GATTTAGGTGA	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	tolerated(0.07)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Leu595Phe,ENST00000220616,;TG,missense_variant,p.Leu595Phe,ENST00000377869,;TG,downstream_gene_variant,,ENST00000520769,;	1825	165	220	SUCCESS
TG	7038	.	GRCh37	8	133913655	133913655	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760317901	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	25	110	0	ENST00000220616.4:c.3491G>T	p.Gly1164Val	p.G1164V	ENST00000220616	NM_003235.4	1164	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34944.1	3491	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCTATG	NONE	byFrequency	.	Superfamily_domains:SSF57610,PIRSF_domain:PIRSF001831,Pfam_domain:PF00086,Gene3D:4.10.800.10,PROSITE_profiles:PS51162	.	.	ENSP00000220616	.	16/48	.	.	.	.	.	.	.	.	rs760317901	16/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Gly1164Val,ENST00000220616,;TG,missense_variant,p.Gly1164Val,ENST00000377869,;TG,intron_variant,,ENST00000518505,;TG,intron_variant,,ENST00000523756,;TG,downstream_gene_variant,,ENST00000518097,;	3531	110	152	SUCCESS
CYP11B1	1584	.	GRCh37	8	143961039	143961039	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	40	127	0	ENST00000292427.4:c.191T>A	p.Leu64Gln	p.L64Q	ENST00000292427	NM_000497.3	64	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6392.1	191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCAGGTCC	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000292427	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000292427	Transcript	1	.	ENSG00000160882	2591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	C11B1_HUMAN	CYP11B1	HGNC	Q8TE40_HUMAN,Q8TE38_HUMAN	.	UPI000013E0BA	SNV	CYP11B1,missense_variant,p.Leu64Gln,ENST00000517471,;CYP11B1,missense_variant,p.Leu64Gln,ENST00000292427,;CYP11B1,missense_variant,p.Leu64Gln,ENST00000377675,;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	224	127	171	SUCCESS
TIGD5	84948	.	GRCh37	8	144681526	144681526	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	49	64	0	ENST00000321385.3:c.1306T>G	p.Phe436Val	p.F436V	ENST00000321385		436	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS6406.2	1453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTTCGAG	NONE	.	.	hmmpanther:PTHR19303:SF210,hmmpanther:PTHR19303	.	.	ENSP00000421489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504548	Transcript	.	.	ENSG00000179886	18336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TIGD5_HUMAN	TIGD5	HGNC	.	.	UPI0001BAE24C	SNV	TIGD5,missense_variant,p.Phe485Val,ENST00000504548,;TIGD5,missense_variant,p.Phe436Val,ENST00000321385,;EEF1D,5_prime_UTR_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,;EEF1D,upstream_gene_variant,,ENST00000528610,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526133,;PYCRL,downstream_gene_variant,,ENST00000220966,;EEF1D,upstream_gene_variant,,ENST00000419152,;EEF1D,upstream_gene_variant,,ENST00000526838,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000395119,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000317198,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000442189,;RP11-661A12.14,upstream_gene_variant,,ENST00000606452,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;	1453	64	91	SUCCESS
RECQL4	9401	.	GRCh37	8	145738779	145738779	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	10	95	0	ENST00000428558.2:c.2286G>A	p.Gln762=	p.Q762=	ENST00000428558	NM_004260.3	762	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	.	2286	MUTECT|MUSE|VARSCANS	.	TGGCCCTGCAT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1,TIGRFAM_domain:TIGR00614,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000475456	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,synonymous_variant,p.%3D,ENST00000428558,;RECQL4,intron_variant,,ENST00000534626,;MFSD3,downstream_gene_variant,,ENST00000301327,;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,intron_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;	2328	95	110	SUCCESS
ATP6V1B2	526	.	GRCh37	8	20068078	20068078	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	33	134	0	ENST00000276390.2:c.386-2A>T		p.X129_splice	ENST00000276390	NM_001693.3	129		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6014.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAGGTCG	NONE	.	.	.	.	.	ENSP00000276390	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000276390	Transcript	1	.	ENSG00000147416	854	.	.	HIGH	4/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VATB2_HUMAN	ATP6V1B2	HGNC	B4DQI9_HUMAN,B4DFM5_HUMAN	.	UPI00001380AD	SNV	ATP6V1B2,splice_acceptor_variant,,ENST00000519667,;ATP6V1B2,splice_acceptor_variant,,ENST00000276390,;ATP6V1B2,splice_acceptor_variant,,ENST00000523478,;ATP6V1B2,splice_acceptor_variant,,ENST00000520830,;ATP6V1B2,splice_acceptor_variant,,ENST00000523482,;	.	134	152	SUCCESS
MYOM2	9172	.	GRCh37	8	2027014	2027014	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	50	1	ENST00000262113.4:c.1462G>T	p.Ala488Ser	p.A488S	ENST00000262113	NM_003970.2	488	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS5957.1	1462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAGGTAAG	NONE	.	.	hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900	.	.	ENSP00000262113	.	12/37	.	.	.	.	.	.	.	.	.	12/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.31)	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,missense_variant,p.Ala488Ser,ENST00000262113,;MYOM2,intron_variant,,ENST00000523438,;MYOM2,upstream_gene_variant,,ENST00000519518,;	1603	51	70	SUCCESS
CSMD1	64478	.	GRCh37	8	2806902	2806902	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	35	0	ENST00000537824.1:c.10321T>A	p.Ser3441Thr	p.S3441T	ENST00000537824	NM_033225.5	3441	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS55189.1	10321	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATGACA	NONE	.	.	hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325	.	.	ENSP00000441462	.	68/70	.	.	.	.	.	.	.	.	.	68/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.469)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ser3265Thr,ENST00000400186,;CSMD1,missense_variant,p.Ser3264Thr,ENST00000542608,;CSMD1,missense_variant,p.Ser3265Thr,ENST00000602723,;CSMD1,missense_variant,p.Ser2844Thr,ENST00000335551,;CSMD1,missense_variant,p.Ser3441Thr,ENST00000537824,;CSMD1,missense_variant,p.Ser3442Thr,ENST00000602557,;CSMD1,missense_variant,p.Ser3442Thr,ENST00000520002,;	10321	35	34	SUCCESS
PRKDC	5591	.	GRCh37	8	48746959	48746959	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	49	0	ENST00000314191.2:c.7949-2A>T		p.X2650_splice	ENST00000314191	NM_006904.6	2650		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGTGAC	NONE	.	.	.	.	.	ENSP00000313420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	59/86	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,splice_acceptor_variant,,ENST00000338368,;PRKDC,splice_acceptor_variant,,ENST00000314191,;PRKDC,splice_acceptor_variant,,ENST00000518216,;PRKDC,splice_acceptor_variant,,ENST00000523565,;	.	49	56	SUCCESS
PRKDC	5591	.	GRCh37	8	48826590	48826594	+	frameshift_variant	Frame_Shift_Del	DEL	CACAT	CACAT	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	CACAT	CACAT	.	.	.	.	.	.	.	.	.	.	.	.	.	37	46	71	0	ENST00000314191.2:c.2648_2652delinsT	p.Tyr883LeufsTer9	p.Y883Lfs*9	ENST00000314191	NM_006904.6	883	tATGTG/tT	0	.	.	.	.	.	A	YV/X	protein_coding	YES	.	2648-2652	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGCCACATAGCTC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	24/87	.	.	.	.	.	.	.	.	.	24/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	substitution	PRKDC,frameshift_variant,p.Tyr883LeufsTer9,ENST00000338368,;PRKDC,frameshift_variant,p.Tyr883LeufsTer9,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	2705-2709	71	83	SUCCESS
TDRP	157695	.	GRCh37	8	494880	494880	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	18	0	ENST00000324079.6:c.-123A>T		p.*41*	ENST00000324079				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59090.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTAGGCG	NONE	.	.	.	.	.	ENSP00000430325	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000523656	Transcript	.	.	ENSG00000180190	26951	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDRP_HUMAN	TDRP	HGNC	.	.	UPI000183D60A	SNV	TDRP,5_prime_UTR_variant,,ENST00000324079,;TDRP,intron_variant,,ENST00000523656,;TDRP,upstream_gene_variant,,ENST00000427263,;	.	18	20	SUCCESS
OPRK1	4986	.	GRCh37	8	54142248	54142248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	28	155	0	ENST00000265572.3:c.752T>A	p.Leu251Gln	p.L251Q	ENST00000265572	NM_000912.3	251	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6152.1	752	RADIA|MUTECT|MUSE|VARSCANS	.	GACGCAGGATC	BUFFER|p.R252H|c.755G>A|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000265572	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000265572	Transcript	.	.	ENSG00000082556	8154	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0.03)	.	OPRK_HUMAN	OPRK1	HGNC	.	.	UPI000011D794	SNV	OPRK1,missense_variant,p.Leu162Gln,ENST00000524278,;OPRK1,missense_variant,p.Leu251Gln,ENST00000520287,;OPRK1,missense_variant,p.Leu251Gln,ENST00000265572,;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;	1050	155	188	SUCCESS
CYP7B1	9420	.	GRCh37	8	65528610	65528610	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	19	73	0	ENST00000310193.3:c.488A>T	p.Gln163Leu	p.Q163L	ENST00000310193	NM_004820.3	163	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6180.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTTGTTTT	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF0,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264	.	.	ENSP00000310721	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000310193	Transcript	1	.	ENSG00000172817	2652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	tolerated(0.77)	.	CP7B1_HUMAN	CYP7B1	HGNC	.	.	UPI0000128218	SNV	CYP7B1,missense_variant,p.Gln163Leu,ENST00000310193,;CYP7B1,upstream_gene_variant,,ENST00000523954,;	662	73	88	SUCCESS
XKR5	389610	.	GRCh37	8	6690291	6690291	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	19	95	0	ENST00000518724.1:n.341G>A		p.*114*	ENST00000518724				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCTGGAT	NONE	.	2785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000500823	Transcript	.	.	ENSG00000245857	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GS1-24F4.2	Clone_based_vega_gene	.	.	.	SNV	GS1-24F4.2,upstream_gene_variant,,ENST00000500823,;XKR5,non_coding_transcript_exon_variant,,ENST00000518724,;XKR5,non_coding_transcript_exon_variant,,ENST00000405979,;XKR5,non_coding_transcript_exon_variant,,ENST00000409172,;	.	95	111	SUCCESS
MYBL1	4603	.	GRCh37	8	67525370	67525370	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	13	0	ENST00000522677.3:c.-297A>T		p.*99*	ENST00000522677	NM_001080416.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47867.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCGCTTGTCAG	NONE	.	.	.	.	.	ENSP00000429633	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000522677	Transcript	.	.	ENSG00000185697	7547	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYBA_HUMAN	MYBL1	HGNC	Q6LD85_HUMAN	.	UPI000012FADE	SNV	MYBL1,5_prime_UTR_variant,,ENST00000522677,;MYBL1,5_prime_UTR_variant,,ENST00000517885,;MYBL1,upstream_gene_variant,,ENST00000524176,;MYBL1,upstream_gene_variant,,ENST00000518079,;MYBL1,non_coding_transcript_exon_variant,,ENST00000523304,;	115	13	13	SUCCESS
ARFGEF1	10565	.	GRCh37	8	68211585	68211585	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	84	126	0	ENST00000262215.3:c.318T>G	p.Leu106=	p.L106=	ENST00000262215	NM_006421.4	106	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS6199.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATAAGTTT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Gene3D:1.25.10.10	.	.	ENSP00000262215	.	4/39	.	.	.	.	.	.	.	.	.	4/39	PASS	ENST00000262215	Transcript	.	.	ENSG00000066777	15772	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIG1_HUMAN	ARFGEF1	HGNC	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN	.	UPI000013D275	SNV	ARFGEF1,synonymous_variant,p.%3D,ENST00000519436,;ARFGEF1,synonymous_variant,p.%3D,ENST00000262215,;	708	126	148	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70591622	70591622	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	36	163	1	ENST00000260126.4:c.2015T>A	p.Val672Glu	p.V672E	ENST00000260126	NM_030958.2	672	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS6205.1	2015	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTACTATG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF86,hmmpanther:PTHR11388,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Superfamily_domains:SSF103473	.	.	ENSP00000260126	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,missense_variant,p.Val617Glu,ENST00000530307,;SLCO5A1,missense_variant,p.Val672Glu,ENST00000524945,;SLCO5A1,missense_variant,p.Val672Glu,ENST00000260126,;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	2722	164	233	SUCCESS
RP11-383H13.1	0	.	GRCh37	8	72755724	72755724	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	16	0	ENST00000537896.1:c.88T>A	p.Leu30Met	p.L30M	ENST00000537896		30	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	.	88	MUTECT|MUSE	.	CTCCCTTGATT	NONE	.	.	.	.	.	ENSP00000440866	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000537896	Transcript	.	.	ENSG00000235531	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	RP11-383H13.1	Clone_based_vega_gene	B7Z945_HUMAN	.	UPI000191533B	SNV	RP11-383H13.1,missense_variant,p.Leu30Met,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000521467,;MSC,intron_variant,,ENST00000325509,;RP11-383H13.1,upstream_gene_variant,,ENST00000524152,;RP11-383H13.1,upstream_gene_variant,,ENST00000519751,;MSC,upstream_gene_variant,,ENST00000518440,;MSC,upstream_gene_variant,,ENST00000521739,;RP11-383H13.1,upstream_gene_variant,,ENST00000457356,;RP11-383H13.1,upstream_gene_variant,,ENST00000518916,;RP11-383H13.1,missense_variant,p.Leu6His,ENST00000522519,;	358	16	21	SUCCESS
ZFHX4	79776	.	GRCh37	8	77617787	77617787	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1376395182	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	36	132	0	ENST00000521891.2:c.1464A>C	p.Leu488Phe	p.L488F	ENST00000521891	NM_024721.4	488	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS47878.2	1464	RADIA|MUTECT|MUSE|VARSCANS	.	GTATTAGGTGA	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.765)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Leu488Phe,ENST00000518282,;ZFHX4,missense_variant,p.Leu488Phe,ENST00000455469,;ZFHX4,missense_variant,p.Leu488Phe,ENST00000050961,;ZFHX4,missense_variant,p.Leu488Phe,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	1912	132	216	SUCCESS
ZFHX4	79776	.	GRCh37	8	77766437	77766437	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760554402	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	29	113	0	ENST00000521891.2:c.7280C>T	p.Pro2427Leu	p.P2427L	ENST00000521891	NM_024721.4	2427	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47878.2	7280	RADIA|SOMATICSNIPER|VARSCANS	.	CAAACCAGCCC	BUFFER|p.P2430P|c.7290A>G|3	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	rs760554402	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Pro2382Leu,ENST00000455469,;ZFHX4,missense_variant,p.Pro2401Leu,ENST00000518282,;ZFHX4,missense_variant,p.Pro2382Leu,ENST00000050961,;ZFHX4,missense_variant,p.Pro2427Leu,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	7728	113	136	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88886271	88886271	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	46	64	0	ENST00000319675.3:c.-72T>A		p.*24*	ENST00000319675	NM_152418.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6245.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTACAAGC	NONE	.	.	.	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	SNV	DCAF4L2,5_prime_UTR_variant,,ENST00000319675,;	26	64	110	SUCCESS
CDH17	1015	.	GRCh37	8	95174341	95174341	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	235	195	0	ENST00000027335.3:c.1332T>C	p.Asp444=	p.D444=	ENST00000027335	NM_004063.3	444	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS6260.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGATCATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000027335	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,synonymous_variant,p.%3D,ENST00000441892,;CDH17,synonymous_variant,p.%3D,ENST00000450165,;CDH17,synonymous_variant,p.%3D,ENST00000027335,;CDH17,synonymous_variant,p.%3D,ENST00000520952,;	1457	195	325	SUCCESS
KIAA1429	0	.	GRCh37	8	95539091	95539091	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	67	0	ENST00000297591.5:c.1381A>T	p.Lys461Ter	p.K461*	ENST00000297591	NM_015496.4	461	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS34923.1	1381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTTGGTCC	NONE	.	.	hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	.	.	ENSP00000297591	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,stop_gained,p.Lys461Ter,ENST00000297591,;KIAA1429,stop_gained,p.Lys461Ter,ENST00000421249,;KIAA1429,stop_gained,p.Lys461Ter,ENST00000437199,;KIAA1429,downstream_gene_variant,,ENST00000519001,;KIAA1429,upstream_gene_variant,,ENST00000522263,;	1457	67	108	SUCCESS
CCDC180	100499483	.	GRCh37	9	100116932	100116932	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	33	190	0	ENST00000375202.2:c.3216A>T	p.Ile1072=	p.I1072=	ENST00000375202		1072	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS35077.2	3216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATAGAGTT	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	37/51	.	.	.	.	.	.	.	.	.	37/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,synonymous_variant,p.%3D,ENST00000357054,;CCDC180,synonymous_variant,p.%3D,ENST00000375202,;CCDC180,synonymous_variant,p.%3D,ENST00000529487,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;CCDC180,non_coding_transcript_exon_variant,,ENST00000471314,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;CCDC180,downstream_gene_variant,,ENST00000530011,;CCDC180,downstream_gene_variant,,ENST00000528678,;	4568	190	159	SUCCESS
ZNF462	58499	.	GRCh37	9	109765689	109765689	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	68	0	ENST00000277225.5:c.7171A>T	p.Ser2391Cys	p.S2391C	ENST00000277225		2391	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS35096.1	7171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAGCAAG	NONE	.	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385	.	.	ENSP00000277225	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,missense_variant,p.Ser2391Cys,ENST00000277225,;ZNF462,missense_variant,p.Ser1297Cys,ENST00000441147,;ZNF462,missense_variant,p.Ser1334Cys,ENST00000374686,;ZNF462,missense_variant,p.Ser348Cys,ENST00000542028,;ZNF462,missense_variant,p.Ser2451Cys,ENST00000457913,;RP11-508N12.2,intron_variant,,ENST00000439901,;	7460	68	61	SUCCESS
SVEP1	79987	.	GRCh37	9	113169638	113169638	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	103	0	ENST00000374469.1:c.8173A>T	p.Ile2725Phe	p.I2725F	ENST00000374469		2725	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS48004.1	8242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAATGTGTC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	38/48	.	.	.	.	.	.	.	.	.	38/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.195)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Ile2748Phe,ENST00000401783,;SVEP1,missense_variant,p.Ile2725Phe,ENST00000374469,;SVEP1,missense_variant,p.Ile674Phe,ENST00000297826,;	8579	103	88	SUCCESS
ZNF618	114991	.	GRCh37	9	116798646	116798646	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	22	106	0	ENST00000374126.5:c.1235A>T	p.Gln412Leu	p.Q412L	ENST00000374126		412	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS48008.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAGTCCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24383:SF12,hmmpanther:PTHR24383,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000288466	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000288466	Transcript	.	.	ENSG00000157657	29416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.583)	.	deleterious_low_confidence(0)	.	ZN618_HUMAN	ZNF618	HGNC	.	.	UPI0000D4BD81	SNV	ZNF618,missense_variant,p.Gln319Leu,ENST00000288466,;ZNF618,missense_variant,p.Gln412Leu,ENST00000374126,;ZNF618,downstream_gene_variant,,ENST00000452710,;ZNF618,downstream_gene_variant,,ENST00000374124,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;	1055	106	99	SUCCESS
PTGS1	5742	.	GRCh37	9	125148941	125148941	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs754094508	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	106	0	ENST00000362012.2:c.1226A>T	p.Asn409Ile	p.N409I	ENST00000362012	NM_000962.3	409	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS6842.1	1226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAACACCT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11903:SF6,hmmpanther:PTHR11903,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000354612	.	9/11	.	.	.	.	.	.	.	.	rs754094508	9/11	PASS	ENST00000362012	Transcript	.	.	ENSG00000095303	9604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PGH1_HUMAN	PTGS1	HGNC	.	.	UPI0000161DAC	SNV	PTGS1,missense_variant,p.Asn409Ile,ENST00000362012,;PTGS1,missense_variant,p.Asn300Ile,ENST00000373698,;PTGS1,intron_variant,,ENST00000223423,;PTGS1,intron_variant,,ENST00000540753,;PTGS1,downstream_gene_variant,,ENST00000426608,;AL162424.1,upstream_gene_variant,,ENST00000600713,;	1231	106	74	SUCCESS
DNM1	1759	.	GRCh37	9	131012490	131012490	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1414107946	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	78	0	ENST00000372923.3:c.2173C>T	p.Arg725Cys	p.R725C	ENST00000372923	NM_004408.2	725	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS6895.1	2173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCGCGAC	NONE	.	.	PROSITE_profiles:PS51388,hmmpanther:PTHR11566:SF32,hmmpanther:PTHR11566,Pfam_domain:PF02212,SMART_domains:SM00302	.	.	ENSP00000362014	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000372923	Transcript	.	.	ENSG00000106976	2972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	DYN1_HUMAN	DNM1	HGNC	.	.	UPI000013CA31	SNV	DNM1,missense_variant,p.Arg725Cys,ENST00000341179,;DNM1,missense_variant,p.Arg725Cys,ENST00000372923,;DNM1,missense_variant,p.Arg725Cys,ENST00000486160,;DNM1,missense_variant,p.Arg725Cys,ENST00000475805,;DNM1,missense_variant,p.Arg725Cys,ENST00000393594,;DNM1,downstream_gene_variant,,ENST00000479174,;DNM1,downstream_gene_variant,,ENST00000493925,;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;	2265	78	66	SUCCESS
PKN3	29941	.	GRCh37	9	131469505	131469505	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	67	0	ENST00000291906.4:c.656A>T	p.Gln219Leu	p.Q219L	ENST00000291906	NM_013355.3	219	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6908.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCAGGCCC	NONE	.	.	Superfamily_domains:SSF46585,SMART_domains:SM00742,Gene3D:1.10.287.160,Pfam_domain:PF02185,hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000291906	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000291906	Transcript	.	.	ENSG00000160447	17999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PKN3_HUMAN	PKN3	HGNC	Q05BU1_HUMAN	.	UPI000013E087	SNV	PKN3,missense_variant,p.Gln219Leu,ENST00000291906,;RN7SL560P,upstream_gene_variant,,ENST00000577943,;	1049	67	52	SUCCESS
C9orf171	0	.	GRCh37	9	135374923	135374923	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	35	168	0	ENST00000343036.2:c.568G>A	p.Asp190Asn	p.D190N	ENST00000343036	NM_207417.1	190	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS6949.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGACCGG	NONE	.	.	Pfam_domain:PF14825	.	.	ENSP00000343290	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000343036	Transcript	.	.	ENSG00000188523	33776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.36)	.	CI171_HUMAN	C9orf171	HGNC	.	.	UPI00001C109C	SNV	C9orf171,missense_variant,p.Asp190Asn,ENST00000343036,;C9orf171,missense_variant,p.Asp154Asn,ENST00000393216,;C9orf171,missense_variant,p.Asp154Asn,ENST00000393215,;	616	168	134	SUCCESS
CEL	1056	.	GRCh37	9	135944545	135944545	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	89	0	ENST00000372080.4:c.1194A>T	p.Pro398=	p.P398=	ENST00000372080	NM_001807.4	398	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43896.1	1194	RADIA|VARSCANS	.	GACCCATCCCA	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139	.	.	ENSP00000361151	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000372080	Transcript	.	.	ENSG00000170835	1848	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CEL	HGNC	Q9UMB1_HUMAN	.	UPI000013E8C6	SNV	CEL,synonymous_variant,p.%3D,ENST00000351304,;CEL,synonymous_variant,p.%3D,ENST00000372080,;	1210	89	60	SUCCESS
BRD3	8019	.	GRCh37	9	136905393	136905393	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	19	0	ENST00000303407.7:c.1408-2A>T		p.X470_splice	ENST00000303407	NM_007371.3	470		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6980.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTGGAAA	NONE	.	.	.	.	.	ENSP00000305918	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303407	Transcript	.	.	ENSG00000169925	1104	.	.	HIGH	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD3_HUMAN	BRD3	HGNC	B4DS09_HUMAN,A9J575_HUMAN,A9J571_HUMAN	.	UPI0000126ACD	SNV	BRD3,splice_acceptor_variant,,ENST00000371834,;BRD3,splice_acceptor_variant,,ENST00000303407,;BRD3,splice_acceptor_variant,,ENST00000357885,;BRD3,intron_variant,,ENST00000473349,;	.	19	27	SUCCESS
WDR5	11091	.	GRCh37	9	137023031	137023031	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	76	0	ENST00000358625.3:c.921A>T	p.Thr307=	p.T307=	ENST00000358625	NM_017588.2	307	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6981.1	921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACAGCTTG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF308,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000351446	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000358625	Transcript	.	.	ENSG00000196363	12757	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR5_HUMAN	WDR5	HGNC	.	.	UPI00000040F5	SNV	WDR5,synonymous_variant,p.%3D,ENST00000358625,;WDR5,synonymous_variant,p.%3D,ENST00000425041,;	1092	77	59	SUCCESS
C9orf169	0	.	GRCh37	9	140120486	140120486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	72	0	ENST00000359069.2:c.413G>T	p.Cys138Phe	p.C138F	ENST00000359069	NM_199001.2	138	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS48064.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF10631	.	.	ENSP00000351967	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000359069	Transcript	.	.	ENSG00000197191	30529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	CI169_HUMAN	C9orf169	HGNC	.	.	UPI0000210E62	SNV	C9orf169,missense_variant,p.Cys178Phe,ENST00000409414,;C9orf169,missense_variant,p.Cys138Phe,ENST00000359069,;RNF208,upstream_gene_variant,,ENST00000392827,;RNF208,upstream_gene_variant,,ENST00000391553,;RNF224,upstream_gene_variant,,ENST00000445101,;SLC34A3,upstream_gene_variant,,ENST00000361134,;SLC34A3,upstream_gene_variant,,ENST00000538474,;	463	72	76	SUCCESS
NELFB	25920	.	GRCh37	9	140166672	140166672	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	54	0	ENST00000343053.4:c.1485A>T		p.X495_splice	ENST00000343053	NM_015456.3	495	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7040.1	1485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAAGGTA	NONE	.	.	hmmpanther:PTHR13503,Pfam_domain:PF06209	.	.	ENSP00000339495	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,synonymous_variant,p.%3D,ENST00000343053,;	1822	54	55	SUCCESS
BNC2	54796	.	GRCh37	9	16418994	16418994	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	63	0	ENST00000380672.4:c.3293T>A	p.Val1098Glu	p.V1098E	ENST00000380672	NM_017637.5	1098	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS6482.2	3293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTACTGAA	NONE	.	.	hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2	.	.	ENSP00000370047	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000380672	Transcript	.	.	ENSG00000173068	30988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.601)	.	deleterious_low_confidence(0)	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,missense_variant,p.Val1003Glu,ENST00000545497,;BNC2,missense_variant,p.Val1031Glu,ENST00000380667,;BNC2,missense_variant,p.Val1098Glu,ENST00000380672,;BNC2,3_prime_UTR_variant,,ENST00000418777,;BNC2,3_prime_UTR_variant,,ENST00000411752,;BNC2,3_prime_UTR_variant,,ENST00000484726,;	3351	63	62	SUCCESS
IFNA7	3444	.	GRCh37	9	21202098	21202098	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs112551811	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	30	125	0	ENST00000239347.3:c.67G>A	p.Gly23Ser	p.G23S	ENST00000239347	NM_021057.2	23	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS34995.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCCAGAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691:SF29,hmmpanther:PTHR11691	.	.	ENSP00000239347	.	1/1	.	.	.	.	.	.	.	.	rs112551811	1/1	PASS	ENST00000239347	Transcript	.	.	ENSG00000214042	5428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	tolerated(0.07)	.	IFNA7_HUMAN	IFNA7	HGNC	.	.	UPI000004775E	SNV	IFNA7,missense_variant,p.Gly23Ser,ENST00000239347,;IFNA10,downstream_gene_variant,,ENST00000357374,;	107	125	132	SUCCESS
TUSC1	286319	.	GRCh37	9	25677993	25677993	+	synonymous_variant	Silent	SNP	G	G	A	rs377425143	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	63	0	ENST00000358022.3:c.327C>T	p.Ser109=	p.S109=	ENST00000358022	NM_001004125.2	109	agC/agT	0	T:0	.	.	.	.	A	S	protein_coding	YES	CCDS34999.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGCTGCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22952:SF109,hmmpanther:PTHR22952	.	T:0.0001	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	rs377425143	1/1	PASS	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,synonymous_variant,p.%3D,ENST00000358022,;	864	63	64	SUCCESS
TAF1L	138474	.	GRCh37	9	32632698	32632698	+	synonymous_variant	Silent	SNP	G	G	T	rs752215723	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	52	210	0	ENST00000242310.4:c.2880C>A	p.Ala960=	p.A960=	ENST00000242310	NM_153809.2	960	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS35003.1	2880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATGGCAGC	NONE	.	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	rs752215723	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,synonymous_variant,p.%3D,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	2970	210	185	SUCCESS
TAF1L	138474	.	GRCh37	9	32632699	32632699	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	52	209	0	ENST00000242310.4:c.2879C>A	p.Ala960Asp	p.A960D	ENST00000242310	NM_153809.2	960	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS35003.1	2879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGCAGCA	NONE	.	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Ala960Asp,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	2969	209	185	SUCCESS
DOCK8	81704	.	GRCh37	9	336700	336700	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	102	0	ENST00000432829.2:c.1200T>A	p.Val400=	p.V400=	ENST00000432829	NM_203447.3	400	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6440.2	1404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTTAGCAG	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74	.	.	ENSP00000408464	.	12/48	.	.	.	.	.	.	.	.	.	12/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,synonymous_variant,p.%3D,ENST00000432829,;DOCK8,synonymous_variant,p.%3D,ENST00000453981,;DOCK8,synonymous_variant,p.%3D,ENST00000469391,;DOCK8,synonymous_variant,p.%3D,ENST00000483757,;DOCK8,3_prime_UTR_variant,,ENST00000524396,;DOCK8,non_coding_transcript_exon_variant,,ENST00000382341,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;DOCK8,non_coding_transcript_exon_variant,,ENST00000454469,;	1516	102	91	SUCCESS
UNC13B	10497	.	GRCh37	9	35403468	35403468	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	158	0	ENST00000378495.3:c.4362A>T	p.Thr1454=	p.T1454=	ENST00000378495	NM_006377.3	1454	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6579.1	4362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAGCGGG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10480,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000367756	.	38/39	.	.	.	.	.	.	.	.	.	38/39	PASS	ENST00000378495	Transcript	.	.	ENSG00000198722	12566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13B_HUMAN	UNC13B	HGNC	.	.	UPI0000211336	SNV	UNC13B,synonymous_variant,p.%3D,ENST00000378496,;UNC13B,synonymous_variant,p.%3D,ENST00000378495,;UNC13B,synonymous_variant,p.%3D,ENST00000396787,;UNC13B,downstream_gene_variant,,ENST00000481299,;ATP8B5P,upstream_gene_variant,,ENST00000430846,;ATP8B5P,upstream_gene_variant,,ENST00000439972,;ATP8B5P,upstream_gene_variant,,ENST00000329395,;ATP8B5P,upstream_gene_variant,,ENST00000417941,;	4584	158	110	SUCCESS
CA9	768	.	GRCh37	9	35675916	35675916	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	66	0	ENST00000378357.4:c.592A>T	p.Asn198Tyr	p.N198Y	ENST00000378357	NM_001216.2	198	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS6585.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAATGGC	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000367608	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000378357	Transcript	.	.	ENSG00000107159	1383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAH9_HUMAN	CA9	HGNC	.	.	UPI000013E02C	SNV	CA9,missense_variant,p.Asn198Tyr,ENST00000378357,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000493245,;CA9,upstream_gene_variant,,ENST00000485665,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;	696	66	48	SUCCESS
TLN1	7094	.	GRCh37	9	35707454	35707454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	73	0	ENST00000314888.9:c.4664G>T	p.Arg1555Leu	p.R1555L	ENST00000314888	NM_006289.3	1555	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS35009.1	4664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACGGTTC	NONE	.	.	Superfamily_domains:SSF109885,Gene3D:1.20.1490.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	36/57	.	.	.	.	.	.	.	.	.	36/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.04)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Arg1555Leu,ENST00000314888,;TLN1,missense_variant,p.Arg1555Leu,ENST00000540444,;TLN1,non_coding_transcript_exon_variant,,ENST00000495712,;TLN1,intron_variant,,ENST00000464379,;TLN1,upstream_gene_variant,,ENST00000466916,;TLN1,upstream_gene_variant,,ENST00000465002,;TLN1,upstream_gene_variant,,ENST00000486788,;	5018	73	48	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43625043	43625043	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs750194980	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	40	69	0	ENST00000332857.6:c.3644A>T	p.Lys1215Met	p.K1215M	ENST00000332857	NM_001145196.1	1215	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS47973.1	3644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTTGTCC	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000329825	.	4/4	.	.	.	.	.	.	.	.	rs750194980	4/4	PASS	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	deleterious(0)	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,missense_variant,p.Lys1215Met,ENST00000332857,;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	3673	69	56	SUCCESS
GLDC	2731	.	GRCh37	9	6592892	6592892	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761279734	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	163	315	0	ENST00000321612.6:c.1360G>T	p.Ala454Ser	p.A454S	ENST00000321612	NM_000170.2	454	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34987.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCGGCCC	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,hmmpanther:PTHR11773,HAMAP:MF_00711	.	.	ENSP00000370737	.	10/25	.	.	.	.	.	.	.	.	rs761279734	10/25	PASS	ENST00000321612	Transcript	.	.	ENSG00000178445	4313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.75)	.	GCSP_HUMAN	GLDC	HGNC	.	.	UPI0000684276	SNV	GLDC,missense_variant,p.Ala454Ser,ENST00000321612,;GLDC,non_coding_transcript_exon_variant,,ENST00000463305,;	1511	316	281	SUCCESS
PTPRD	5789	.	GRCh37	9	8341889	8341889	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	102	0	ENST00000356435.5:c.4751A>T	p.His1584Leu	p.H1584L	ENST00000356435		1584	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS43786.1	4751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACATGGCCA	NONE	.	.	Prints_domain:PR00700,Superfamily_domains:SSF52799,SMART_domains:SM00194,SMART_domains:SM00404,Pfam_domain:PF00102,Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50056,PROSITE_profiles:PS50055	.	.	ENSP00000370593	.	37/43	.	.	.	.	.	.	.	.	.	37/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,missense_variant,p.His1177Leu,ENST00000397617,;PTPRD,missense_variant,p.His1177Leu,ENST00000486161,;PTPRD,missense_variant,p.His1562Leu,ENST00000358503,;PTPRD,missense_variant,p.His1571Leu,ENST00000360074,;PTPRD,missense_variant,p.His1584Leu,ENST00000381196,;PTPRD,missense_variant,p.His1177Leu,ENST00000397606,;PTPRD,missense_variant,p.His1584Leu,ENST00000356435,;PTPRD,missense_variant,p.His1178Leu,ENST00000355233,;PTPRD,missense_variant,p.His1174Leu,ENST00000397611,;PTPRD,missense_variant,p.His1584Leu,ENST00000540109,;PTPRD,missense_variant,p.His1174Leu,ENST00000537002,;	5295	102	63	SUCCESS
PTPRD	5789	.	GRCh37	9	8636718	8636718	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	134	0	ENST00000356435.5:c.191T>G	p.Val64Gly	p.V64G	ENST00000356435		64	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS43786.1	191	MUTECT|MUSE	.	TGCTGACTTTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,PROSITE_profiles:PS50835	.	.	ENSP00000370593	.	10/43	.	.	.	.	.	.	.	.	.	10/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,missense_variant,p.Val64Gly,ENST00000397617,;PTPRD,missense_variant,p.Val64Gly,ENST00000486161,;PTPRD,missense_variant,p.Val64Gly,ENST00000358503,;PTPRD,missense_variant,p.Val64Gly,ENST00000360074,;PTPRD,missense_variant,p.Val64Gly,ENST00000481079,;PTPRD,missense_variant,p.Val64Gly,ENST00000381196,;PTPRD,missense_variant,p.Val64Gly,ENST00000397606,;PTPRD,missense_variant,p.Val64Gly,ENST00000356435,;PTPRD,missense_variant,p.Val64Gly,ENST00000355233,;PTPRD,missense_variant,p.Val64Gly,ENST00000397611,;PTPRD,missense_variant,p.Val64Gly,ENST00000540109,;PTPRD,missense_variant,p.Val64Gly,ENST00000537002,;PTPRD,missense_variant,p.Val64Gly,ENST00000463477,;PTPRD,upstream_gene_variant,,ENST00000488774,;	735	134	96	SUCCESS
DAPK1	1612	.	GRCh37	9	90296521	90296521	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	51	0	ENST00000358077.5:c.2204C>T	p.Pro735Leu	p.P735L	ENST00000358077	NM_001288731.1	735	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43842.1	2204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCCCTGG	NONE	.	.	hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964	.	.	ENSP00000386135	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000408954	Transcript	.	.	ENSG00000196730	2674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.23)	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	SNV	DAPK1,missense_variant,p.Pro735Leu,ENST00000408954,;DAPK1,missense_variant,p.Pro735Leu,ENST00000358077,;DAPK1,missense_variant,p.Pro735Leu,ENST00000491893,;DAPK1,missense_variant,p.Pro735Leu,ENST00000469640,;DAPK1,missense_variant,p.Pro735Leu,ENST00000472284,;DAPK1,downstream_gene_variant,,ENST00000497743,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;	2539	51	51	SUCCESS
SEMA4D	10507	.	GRCh37	9	91994239	91994239	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs762565486	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	95	0	ENST00000356444.2:c.1969A>T	p.Thr657Ser	p.T657S	ENST00000356444		657	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS6685.1	1969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTGGGGG	NONE	.	.	hmmpanther:PTHR11036:SF18,hmmpanther:PTHR11036	.	.	ENSP00000416523	.	16/16	.	.	.	.	.	.	.	.	rs762565486	16/16	PASS	ENST00000450295	Transcript	.	.	ENSG00000187764	10732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	SEM4D_HUMAN	SEMA4D	HGNC	F5H044_HUMAN,C9JYS7_HUMAN,C9JFP1_HUMAN,C9JD54_HUMAN	.	UPI0000135A6C	SNV	SEMA4D,missense_variant,p.Thr657Ser,ENST00000450295,;SEMA4D,missense_variant,p.Thr657Ser,ENST00000422704,;SEMA4D,missense_variant,p.Thr657Ser,ENST00000438547,;SEMA4D,missense_variant,p.Thr657Ser,ENST00000356444,;SEMA4D,intron_variant,,ENST00000343780,;SEMA4D,intron_variant,,ENST00000420987,;SEMA4D,intron_variant,,ENST00000339861,;SEMA4D,intron_variant,,ENST00000455551,;SEMA4D,intron_variant,,ENST00000537934,;SEMA4D,intron_variant,,ENST00000429836,;SEMA4D,upstream_gene_variant,,ENST00000492386,;SEMA4D,downstream_gene_variant,,ENST00000486935,;SEMA4D,downstream_gene_variant,,ENST00000544513,;SEMA4D,downstream_gene_variant,,ENST00000540183,;	2746	95	56	SUCCESS
DIRAS2	54769	.	GRCh37	9	93375673	93375673	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	85	1	ENST00000375765.3:c.437C>A	p.Ala146Asp	p.A146D	ENST00000375765	NM_017594.3	146	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS6687.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGCACAC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF178,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540	.	.	ENSP00000364919	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375765	Transcript	.	.	ENSG00000165023	19323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious(0.01)	.	DIRA2_HUMAN	DIRAS2	HGNC	.	.	UPI000004D253	SNV	DIRAS2,missense_variant,p.Ala146Asp,ENST00000375765,;	826	86	72	SUCCESS
FGD3	89846	.	GRCh37	9	95772649	95772649	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	117	0	ENST00000337352.6:c.959A>T	p.Asp320Val	p.D320V	ENST00000337352	NM_033086.2	320	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS43849.1	959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGACCGGA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000364631	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,missense_variant,p.Asp320Val,ENST00000416701,;FGD3,missense_variant,p.Asp320Val,ENST00000375482,;FGD3,missense_variant,p.Asp320Val,ENST00000337352,;FGD3,upstream_gene_variant,,ENST00000538555,;FGD3,missense_variant,p.Asp320Val,ENST00000467786,;	1455	117	84	SUCCESS
CENPI	2491	.	GRCh37	X	100402946	100402946	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	63	138	0	ENST00000372927.1:c.1890C>T	p.Phe630=	p.F630=	ENST00000372927	NM_006733.2	630	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS14479.1	1890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCAATTT	NONE	.	.	hmmpanther:PTHR15408	.	.	ENSP00000362018	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000372927	Transcript	.	.	ENSG00000102384	3968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPI_HUMAN	CENPI	HGNC	Q5JX02_HUMAN,Q5JX01_HUMAN	.	UPI000004A007	SNV	CENPI,synonymous_variant,p.%3D,ENST00000372927,;CENPI,synonymous_variant,p.%3D,ENST00000218507,;CENPI,synonymous_variant,p.%3D,ENST00000423383,;	2167	138	141	SUCCESS
CENPI	2491	.	GRCh37	X	100402947	100402947	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	62	139	0	ENST00000372927.1:c.1891A>C	p.Asn631His	p.N631H	ENST00000372927	NM_006733.2	631	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS14479.1	1891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCAATTTC	NONE	.	.	hmmpanther:PTHR15408	.	.	ENSP00000362018	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000372927	Transcript	.	.	ENSG00000102384	3968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.332)	.	tolerated(0.35)	.	CENPI_HUMAN	CENPI	HGNC	Q5JX02_HUMAN,Q5JX01_HUMAN	.	UPI000004A007	SNV	CENPI,missense_variant,p.Asn631His,ENST00000372927,;CENPI,missense_variant,p.Asn631His,ENST00000218507,;CENPI,missense_variant,p.Asn631His,ENST00000423383,;	2168	139	141	SUCCESS
NXF4	55999	.	GRCh37	X	101823430	101823430	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	86	0	ENST00000360035.2:n.3183A>T		p.*1061*	ENST00000360035				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCACCCTC	NONE	.	.	.	.	.	.	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000360035	Transcript	.	.	ENSG00000196970	8074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NXF4	HGNC	.	.	.	SNV	NXF4,non_coding_transcript_exon_variant,,ENST00000360035,;NXF4,non_coding_transcript_exon_variant,,ENST00000416098,;	3183	86	84	SUCCESS
NXF3	56000	.	GRCh37	X	102338424	102338424	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	67	0	ENST00000395065.3:c.442T>A	p.Tyr148Asn	p.Y148N	ENST00000395065	NM_022052.1	148	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS14503.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATAGTGAA	NONE	.	.	hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Gene3D:3.30.70.330,Pfam_domain:PF09162,Superfamily_domains:SSF54928	.	.	ENSP00000378504	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Tyr59Asn,ENST00000425463,;NXF3,missense_variant,p.Tyr148Asn,ENST00000395065,;NXF3,missense_variant,p.Tyr25Asn,ENST00000427570,;NXF3,5_prime_UTR_variant,,ENST00000425644,;NXF3,upstream_gene_variant,,ENST00000494300,;NXF3,upstream_gene_variant,,ENST00000497850,;NXF3,upstream_gene_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000468528,;NXF3,upstream_gene_variant,,ENST00000470724,;LL0XNC01-221F2.2,upstream_gene_variant,,ENST00000440243,;	544	67	73	SUCCESS
ZCCHC18	644353	.	GRCh37	X	103359030	103359030	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	104	1	ENST00000537356.3:c.228T>A	p.Ser76Arg	p.S76R	ENST00000537356	NM_001143978.2	76	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS65304.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTATGTC	NONE	.	.	hmmpanther:PTHR23095:SF18,hmmpanther:PTHR23095,Pfam_domain:PF14893	.	.	ENSP00000473824	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537356	Transcript	.	.	ENSG00000166707	32459	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0.05)	.	ZCC18_HUMAN	ZCCHC18	HGNC	.	.	UPI0000072244	SNV	ZCCHC18,missense_variant,p.Ser76Arg,ENST00000537356,;SLC25A53,intron_variant,,ENST00000357421,;ZCCHC18,intron_variant,,ENST00000422784,;ZCCHC18,downstream_gene_variant,,ENST00000603049,;ZCCHC18,downstream_gene_variant,,ENST00000605784,;ZCCHC18,downstream_gene_variant,,ENST00000423478,;	1642	105	86	SUCCESS
ESX1	80712	.	GRCh37	X	103499021	103499021	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	66	0	ENST00000372588.4:c.320A>T	p.Lys107Met	p.K107M	ENST00000372588	NM_153448.3	107	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS14516.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF286,hmmpanther:PTHR24329	.	.	ENSP00000361669	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000372588	Transcript	.	.	ENSG00000123576	14865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious_low_confidence(0.05)	.	ESX1_HUMAN	ESX1	HGNC	A6ZIU4_HUMAN,A6ZIT2_HUMAN	.	UPI0000073D09	SNV	ESX1,missense_variant,p.Lys107Met,ENST00000372588,;	404	66	65	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	105011036	105011036	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	96	186	0	ENST00000372582.1:c.1443A>T	p.Arg481Ser	p.R481S	ENST00000372582	NM_017416.1	481	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS14517.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGACGGGG	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000361663	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,missense_variant,p.Arg481Ser,ENST00000344799,;IL1RAPL2,missense_variant,p.Arg481Ser,ENST00000372582,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;	2199	186	220	SUCCESS
COL4A5	1287	.	GRCh37	X	107823970	107823970	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	121	255	0	ENST00000361603.2:c.891+2T>A		p.X297_splice	ENST00000361603	NM_000495.4	297		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35366.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGTAAGTG	NONE	.	.	.	.	.	ENSP00000331902	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	HIGH	15/52	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,splice_donor_variant,,ENST00000328300,;COL4A5,splice_donor_variant,,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000483338,;	.	255	278	SUCCESS
GUCY2F	2986	.	GRCh37	X	108631785	108631785	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	91	0	ENST00000218006.2:c.2889T>A	p.Ser963=	p.S963=	ENST00000218006	NM_001522.2	963	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14545.1	2889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGAGCT	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF278,hmmpanther:PTHR11920,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000218006	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000218006	Transcript	.	.	ENSG00000101890	4691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC2F_HUMAN	GUCY2F	HGNC	.	.	UPI000013C740	SNV	GUCY2F,synonymous_variant,p.%3D,ENST00000218006,;	3181	91	117	SUCCESS
ARHGAP6	395	.	GRCh37	X	11204488	11204488	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	62	0	ENST00000337414.4:c.1141T>A	p.Leu381Ile	p.L381I	ENST00000337414	NM_013427.2	381	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS14140.1	1141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAAAGCTT	NONE	.	.	hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3	.	.	ENSP00000338967	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000337414	Transcript	.	.	ENSG00000047648	676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	RHG06_HUMAN	ARHGAP6	HGNC	B4DN35_HUMAN	.	UPI00001AED54	SNV	ARHGAP6,missense_variant,p.Leu381Ile,ENST00000380718,;ARHGAP6,missense_variant,p.Leu217Ile,ENST00000380717,;ARHGAP6,missense_variant,p.Leu206Ile,ENST00000534860,;ARHGAP6,missense_variant,p.Leu381Ile,ENST00000337414,;ARHGAP6,missense_variant,p.Leu178Ile,ENST00000303025,;ARHGAP6,missense_variant,p.Leu413Ile,ENST00000380732,;ARHGAP6,missense_variant,p.Leu178Ile,ENST00000380736,;ARHGAP6,missense_variant,p.Leu190Ile,ENST00000413512,;ARHGAP6,upstream_gene_variant,,ENST00000491514,;ARHGAP6,missense_variant,p.Leu413Ile,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	2014	62	59	SUCCESS
KLHL13	90293	.	GRCh37	X	117044023	117044023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	37	0	ENST00000262820.3:c.607G>T	p.Ala203Ser	p.A203S	ENST00000262820	NM_033495.3	203	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS55480.1	616	MUTECT|MUSE	.	GTTGGCAATCC	NONE	.	.	PIRSF_domain:PIRSF037037,SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF68,hmmpanther:PTHR24412	.	.	ENSP00000443191	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000539496	Transcript	.	.	ENSG00000003096	22931	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.247)	.	deleterious(0.04)	.	KLH13_HUMAN	KLHL13	HGNC	Q96HC9_HUMAN,C9JTS9_HUMAN	.	UPI0001914B0F	SNV	KLHL13,missense_variant,p.Ala187Ser,ENST00000540167,;KLHL13,missense_variant,p.Ala152Ser,ENST00000469946,;KLHL13,missense_variant,p.Ala152Ser,ENST00000371876,;KLHL13,missense_variant,p.Ala206Ser,ENST00000539496,;KLHL13,missense_variant,p.Ala152Ser,ENST00000371878,;KLHL13,missense_variant,p.Ala161Ser,ENST00000545703,;KLHL13,missense_variant,p.Ala152Ser,ENST00000371882,;KLHL13,missense_variant,p.Ala187Ser,ENST00000541812,;KLHL13,missense_variant,p.Ala152Ser,ENST00000447671,;KLHL13,missense_variant,p.Ala203Ser,ENST00000262820,;Y_RNA,downstream_gene_variant,,ENST00000363421,;	616	37	42	SUCCESS
KIAA1210	57481	.	GRCh37	X	118230582	118230582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	95	0	ENST00000402510.2:c.1141A>T	p.Ser381Cys	p.S381C	ENST00000402510	NM_020721.1	381	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS48156.1	1141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACTGGTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036,Pfam_domain:PF15262	.	.	ENSP00000384670	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Ser381Cys,ENST00000402510,;	1141	95	114	SUCCESS
TLR7	51284	.	GRCh37	X	12906214	12906214	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	47	57	0	ENST00000380659.3:c.2587T>A	p.Tyr863Asn	p.Y863N	ENST00000380659	NM_016562.3	863	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS14151.1	2587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTATTTC	NONE	.	.	hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,Transmembrane_helices:TMhelix	.	.	ENSP00000370034	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380659	Transcript	.	.	ENSG00000196664	15631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	deleterious(0)	.	TLR7_HUMAN	TLR7	HGNC	B2R9N9_HUMAN	.	UPI000004BAF6	SNV	TLR7,missense_variant,p.Tyr863Asn,ENST00000380659,;	2726	57	88	SUCCESS
GPR112	0	.	GRCh37	X	135431162	135431162	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	50	90	0	ENST00000370652.1:c.5297A>T	p.Gln1766Leu	p.Q1766L	ENST00000370652		1766	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS35409.1	5297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCAGGTTT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Gln1703Leu,ENST00000287534,;GPR112,missense_variant,p.Gln1766Leu,ENST00000370652,;GPR112,missense_variant,p.Gln1766Leu,ENST00000394143,;GPR112,missense_variant,p.Gln1561Leu,ENST00000394141,;GPR112,missense_variant,p.Gln1561Leu,ENST00000412101,;	5588	90	114	SUCCESS
GPR101	83550	.	GRCh37	X	136113821	136113821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	20	0	ENST00000298110.1:c.13T>A	p.Cys5Ser	p.C5S	ENST00000298110	NM_054021.1	5	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS14662.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCAGGTGG	NONE	.	.	hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2	.	.	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	SNV	GPR101,missense_variant,p.Cys5Ser,ENST00000298110,;	13	20	18	SUCCESS
CSAG1	158511	.	GRCh37	X	151908775	151908775	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	rs782296364	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	155	307	0	ENST00000370287.3:c.17-3T>A		p.X6_splice	ENST00000370287	NM_153478.1	6		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14711.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTAGCCT	NONE	byFrequency	.	.	.	.	ENSP00000359310	.	.	.	.	.	.	.	.	.	.	rs782296364	.	PASS	ENST00000370287	Transcript	.	.	ENSG00000198930	24294	.	.	LOW	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSAG1_HUMAN	CSAG1	HGNC	.	.	UPI000015FDBE	SNV	CSAG1,splice_region_variant,,ENST00000370287,;CSAG1,splice_region_variant,,ENST00000452779,;CSAG1,splice_region_variant,,ENST00000370291,;CSAG1,synonymous_variant,p.%3D,ENST00000361211,;	.	307	363	SUCCESS
ATP2B3	492	.	GRCh37	X	152845550	152845550	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782211467	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	109	0	ENST00000263519.4:c.3457A>T	p.Thr1153Ser	p.T1153S	ENST00000263519	NM_001001344.2	1153	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS35440.1	3457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACACCCAC	NONE	byFrequency	.	Pfam_domain:PF12424	.	.	ENSP00000263519	.	20/20	.	.	.	.	.	.	.	.	rs782211467	20/20	PASS	ENST00000263519	Transcript	.	.	ENSG00000067842	816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	tolerated_low_confidence(0.54)	.	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,missense_variant,p.Thr1153Ser,ENST00000263519,;ATP2B3,missense_variant,p.Thr1153Ser,ENST00000349466,;ATP2B3,3_prime_UTR_variant,,ENST00000359149,;ATP2B3,3_prime_UTR_variant,,ENST00000370181,;ATP2B3,3_prime_UTR_variant,,ENST00000370186,;ATP2B3,non_coding_transcript_exon_variant,,ENST00000496610,;	3583	109	130	SUCCESS
ASMTL	8623	.	GRCh37	X	1531641	1531641	+	synonymous_variant	Silent	SNP	G	G	A	rs765866878	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	374	87	660	0	ENST00000381317.3:c.1629C>T	p.Ala543=	p.A543=	ENST00000381317	NM_004192.3	543	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43917.1	1629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCGGCGAC	NONE	.	.	PROSITE_profiles:PS51683,hmmpanther:PTHR11746,hmmpanther:PTHR11746:SF69,Pfam_domain:PF00891,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000370718	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000381317	Transcript	.	.	ENSG00000169093	751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASML_HUMAN	ASMTL	HGNC	.	.	UPI0000141AF9	SNV	ASMTL,synonymous_variant,p.%3D,ENST00000381317,;ASMTL,synonymous_variant,p.%3D,ENST00000534940,;ASMTL,synonymous_variant,p.%3D,ENST00000381333,;ASMTL,synonymous_variant,p.%3D,ENST00000416733,;ASMTL-AS1,non_coding_transcript_exon_variant,,ENST00000419737,;ASMTL-AS1,non_coding_transcript_exon_variant,,ENST00000420411,;ASMTL-AS1,non_coding_transcript_exon_variant,,ENST00000425740,;ASMTL-AS1,intron_variant,,ENST00000602357,;	1662	660	462	SUCCESS
DNASE1L1	1774	.	GRCh37	X	153631374	153631374	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1557187287	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	45	44	0	ENST00000014935.3:c.683G>A	p.Arg228His	p.R228H	ENST00000014935		228	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14747.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACGCGGTCA	NONE	.	.	hmmpanther:PTHR11371:SF22,hmmpanther:PTHR11371,Pfam_domain:PF03372,Gene3D:3.60.10.10,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219,Prints_domain:PR00130	.	.	ENSP00000358824	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000369809	Transcript	.	.	ENSG00000013563	2957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	DNSL1_HUMAN	DNASE1L1	HGNC	Q5HY40_HUMAN,A6QRJ0_HUMAN,A3KQT1_HUMAN	.	UPI0000129891	SNV	DNASE1L1,missense_variant,p.Arg228His,ENST00000369808,;DNASE1L1,missense_variant,p.Arg228His,ENST00000309585,;DNASE1L1,missense_variant,p.Arg228His,ENST00000369809,;DNASE1L1,missense_variant,p.Arg228His,ENST00000014935,;DNASE1L1,missense_variant,p.Arg228His,ENST00000369807,;DNASE1L1,missense_variant,p.Arg228His,ENST00000393638,;RPL10,3_prime_UTR_variant,,ENST00000449494,;DNASE1L1,intron_variant,,ENST00000447892,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000344746,;RPL10,downstream_gene_variant,,ENST00000406022,;DNASE1L1,downstream_gene_variant,,ENST00000412184,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;RPL10,downstream_gene_variant,,ENST00000369817,;RPL10,downstream_gene_variant,,ENST00000458500,;RPL10,downstream_gene_variant,,ENST00000424325,;SNORA70,downstream_gene_variant,,ENST00000384436,;RPL10,downstream_gene_variant,,ENST00000479366,;DNASE1L1,non_coding_transcript_exon_variant,,ENST00000497242,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000474786,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000492572,;	1313	44	51	SUCCESS
ASMT	438	.	GRCh37	X	1742029	1742029	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	32	176	0	ENST00000381229.4:c.70-3A>T		p.X24_splice	ENST00000381229		24		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14117.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAAGGTT	NONE	.	.	.	.	.	ENSP00000370639	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381241	Transcript	.	.	ENSG00000196433	750	.	.	LOW	1/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASMT_HUMAN	ASMT	HGNC	.	.	UPI00001AEDD0	SNV	ASMT,splice_region_variant,,ENST00000381229,;ASMT,splice_region_variant,,ENST00000381241,;ASMT,splice_region_variant,,ENST00000381233,;ASMT,upstream_gene_variant,,ENST00000509780,;	.	176	143	SUCCESS
BEND2	139105	.	GRCh37	X	18183181	18183181	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	36	0	ENST00000380033.4:c.2348T>A	p.Leu783Gln	p.L783Q	ENST00000380033	NM_153346.4	783	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14184.1	2348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGCTCT	NONE	.	.	.	.	.	ENSP00000369372	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000380033	Transcript	.	.	ENSG00000177324	28509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.1)	.	BEND2_HUMAN	BEND2	HGNC	.	.	UPI000013FE0F	SNV	BEND2,missense_variant,p.Leu783Gln,ENST00000380033,;	2481	36	41	SUCCESS
MAP3K15	389840	.	GRCh37	X	19418698	19418698	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	17	0	ENST00000338883.4:c.1928T>A	p.Leu643Ter	p.L643*	ENST00000338883	NM_001001671.3	643	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	.	1928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAAGGTG	NONE	.	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363	.	.	ENSP00000345629	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,stop_gained,p.Leu475Ter,ENST00000469203,;MAP3K15,stop_gained,p.Leu78Ter,ENST00000359173,;MAP3K15,stop_gained,p.Leu643Ter,ENST00000338883,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	1928	17	23	SUCCESS
PCYT1B	9468	.	GRCh37	X	24665257	24665257	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs1218079867	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	38	0	ENST00000379144.2:c.-35T>A		p.*12*	ENST00000379144	NM_004845.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14213.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCAGAGAG	NONE	.	.	.	.	.	ENSP00000368439	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000379144	Transcript	.	.	ENSG00000102230	8755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCY1B_HUMAN	PCYT1B	HGNC	.	.	UPI000012864E	SNV	PCYT1B,5_prime_UTR_variant,,ENST00000379144,;PCYT1B,5_prime_UTR_variant,,ENST00000356768,;PCYT1B,intron_variant,,ENST00000379145,;PCYT1B-AS1,upstream_gene_variant,,ENST00000432626,;PCYT1B,upstream_gene_variant,,ENST00000496020,;	97	38	24	SUCCESS
POLA1	5422	.	GRCh37	X	24757522	24757522	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	51	118	0	ENST00000379059.3:c.2053A>T	p.Thr685Ser	p.T685S	ENST00000379059	NM_016937.3	685	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS14214.1	2053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTACCTGT	NONE	.	.	hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Gene3D:3.30.420.10,Pfam_domain:PF03104,TIGRFAM_domain:TIGR00592,SMART_domains:SM00486,Superfamily_domains:SSF53098	.	.	ENSP00000368349	.	20/37	.	.	.	.	.	.	.	.	.	20/37	PASS	ENST00000379059	Transcript	.	.	ENSG00000101868	9173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.06)	.	DPOLA_HUMAN	POLA1	HGNC	.	.	UPI000014D383	SNV	POLA1,missense_variant,p.Thr685Ser,ENST00000379059,;POLA1,missense_variant,p.Thr691Ser,ENST00000379068,;	2068	118	124	SUCCESS
AKAP4	8852	.	GRCh37	X	49965662	49965662	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	15	0	ENST00000358526.2:c.-122A>T		p.*41*	ENST00000358526	NM_003886.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14329.1	.	MUTECT|MUSE	.	CCAGCTGGTAC	NONE	.	.	.	.	.	ENSP00000351327	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000358526	Transcript	.	.	ENSG00000147081	374	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AKAP4_HUMAN	AKAP4	HGNC	.	.	UPI000013DA96	SNV	AKAP4,5_prime_UTR_variant,,ENST00000358526,;AKAP4,5_prime_UTR_variant,,ENST00000376056,;AKAP4,5_prime_UTR_variant,,ENST00000376058,;AKAP4,upstream_gene_variant,,ENST00000448865,;AKAP4,upstream_gene_variant,,ENST00000437370,;CCNB3,upstream_gene_variant,,ENST00000376038,;AKAP4,upstream_gene_variant,,ENST00000376064,;CCNB3,upstream_gene_variant,,ENST00000376042,;CCNB3,upstream_gene_variant,,ENST00000493507,;AKAP4,upstream_gene_variant,,ENST00000481402,;CCNB3,upstream_gene_variant,,ENST00000491907,;AKAP4,upstream_gene_variant,,ENST00000480926,;CCNB3,upstream_gene_variant,,ENST00000476167,;	3	15	28	SUCCESS
DGKK	139189	.	GRCh37	X	50121586	50121586	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	44	0	ENST00000376025.2:n.3026G>A		p.*1009*	ENST00000376025				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCGATGA	NONE	.	.	.	.	.	.	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000376025	Transcript	.	.	ENSG00000204466	32395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	DGKK	HGNC	.	.	.	SNV	DGKK,non_coding_transcript_exon_variant,,ENST00000376025,;DGKK,non_coding_transcript_exon_variant,,ENST00000546288,;	3026	45	47	SUCCESS
SHROOM4	57477	.	GRCh37	X	50377203	50377203	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	61	74	0	ENST00000289292.7:c.1870C>A	p.Gln624Lys	p.Q624K	ENST00000289292		624	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS35277.1	1870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGGGTCT	NONE	.	.	hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012	.	.	ENSP00000365188	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious(0.02)	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,missense_variant,p.Gln624Lys,ENST00000376020,;SHROOM4,missense_variant,p.Gln624Lys,ENST00000289292,;SHROOM4,missense_variant,p.Gln508Lys,ENST00000460112,;	1896	74	68	SUCCESS
HUWE1	10075	.	GRCh37	X	53674399	53674399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	73	125	0	ENST00000262854.6:c.263A>G	p.Gln88Arg	p.Q88R	ENST00000262854	NM_031407.5	88	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS35301.1	263	RADIA|MUTECT|MUSE	.	TCAGTTGCTCT	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	5/83	.	.	.	.	.	.	.	.	.	5/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Gln88Arg,ENST00000446750,;HUWE1,missense_variant,p.Gln88Arg,ENST00000218328,;HUWE1,missense_variant,p.Gln88Arg,ENST00000342160,;HUWE1,missense_variant,p.Gln88Arg,ENST00000262854,;	721	125	92	SUCCESS
HUWE1	10075	.	GRCh37	X	53674402	53674402	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	56	122	0	ENST00000262854.6:c.260A>G	p.Glu87Gly	p.E87G	ENST00000262854	NM_031407.5	87	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS35301.1	260	RADIA|MUTECT	.	GTTGCTCTCTT	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	5/83	.	.	.	.	.	.	.	.	.	5/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Glu87Gly,ENST00000446750,;HUWE1,missense_variant,p.Glu87Gly,ENST00000218328,;HUWE1,missense_variant,p.Glu87Gly,ENST00000342160,;HUWE1,missense_variant,p.Glu87Gly,ENST00000262854,;	718	122	76	SUCCESS
HUWE1	10075	.	GRCh37	X	53674404	53674404	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	56	123	0	ENST00000262854.6:c.258A>G	p.Arg86=	p.R86=	ENST00000262854	NM_031407.5	86	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS35301.1	258	RADIA|MUTECT	.	TGCTCTCTTTC	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	5/83	.	.	.	.	.	.	.	.	.	5/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000446750,;HUWE1,synonymous_variant,p.%3D,ENST00000218328,;HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;	716	123	76	SUCCESS
TEX11	56159	.	GRCh37	X	70072999	70072999	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	57	0	ENST00000344304.3:c.455T>A	p.Leu152Gln	p.L152Q	ENST00000344304		152	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS35323.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAGACTC	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904	.	.	ENSP00000379226	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,missense_variant,p.Leu137Gln,ENST00000374333,;TEX11,missense_variant,p.Leu152Gln,ENST00000395889,;TEX11,missense_variant,p.Leu152Gln,ENST00000344304,;RP13-278H16.2,upstream_gene_variant,,ENST00000396055,;	611	57	80	SUCCESS
ATRX	546	.	GRCh37	X	76872153	76872153	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	114	97	0	ENST00000373344.5:c.5494G>C	p.Glu1832Gln	p.E1832Q	ENST00000373344	NM_000489.3	1832	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS14434.1	5494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTCGTGTT	NONE	.	.	hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799,Pfam_domain:PF00176	.	.	ENSP00000362441	.	22/35	.	.	.	.	.	.	.	.	.	22/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,missense_variant,p.Glu121Gln,ENST00000400866,;ATRX,missense_variant,p.Glu1794Gln,ENST00000395603,;ATRX,missense_variant,p.Glu1832Gln,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;	5709	97	130	SUCCESS
CCDC7	79741	.	GRCh37	10	32833205	32833205	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	272	116	368	0	ENST00000362006.5:c.1110A>G	p.Ile370Met	p.I370M	ENST00000362006	NM_145023.4	370	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS7173.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATAAAAGA	NONE	.	.	hmmpanther:PTHR22035:SF4,hmmpanther:PTHR22035	.	.	ENSP00000355078	.	14/18	.	.	.	.	.	.	.	.	COSM1644481	14/18	PASS	ENST00000362006	Transcript	.	.	ENSG00000216937	26533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.405)	.	tolerated(0.34)	1	CCDC7_HUMAN	CCDC7	HGNC	.	.	UPI00000745EB	SNV	CCDC7,missense_variant,p.Ile370Met,ENST00000277657,;CCDC7,missense_variant,p.Ile39Met,ENST00000435402,;CCDC7,missense_variant,p.Ile370Met,ENST00000362006,;C10ORF68,non_coding_transcript_exon_variant,,ENST00000572165,;CCDC7,non_coding_transcript_exon_variant,,ENST00000471905,;CCDC7,downstream_gene_variant,,ENST00000493685,;CCDC7,3_prime_UTR_variant,,ENST00000476558,;	1653	368	389	SUCCESS
PPP1R3C	5507	.	GRCh37	10	93392752	93392752	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	51	183	0	ENST00000238994.5:c.-26T>G		p.*9*	ENST00000238994	NM_005398.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7416.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAAAAGCCA	NONE	.	.	.	.	.	ENSP00000238994	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000238994	Transcript	.	.	ENSG00000119938	9293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3C_HUMAN	PPP1R3C	HGNC	B4DRR5_HUMAN	.	UPI000006EFF1	SNV	PPP1R3C,5_prime_UTR_variant,,ENST00000238994,;	60	183	171	SUCCESS
DCUN1D5	84259	.	GRCh37	11	102935046	102935046	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	50	0	ENST00000260247.5:c.616A>T	p.Thr206Ser	p.T206S	ENST00000260247	NM_032299.3	206	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS8325.1	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGTTCTGC	NONE	.	.	PROSITE_profiles:PS51229,hmmpanther:PTHR12281:SF6,hmmpanther:PTHR12281,Pfam_domain:PF03556	.	.	ENSP00000260247	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000260247	Transcript	.	.	ENSG00000137692	28409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated(0.18)	.	DCNL5_HUMAN	DCUN1D5	HGNC	B4DP84_HUMAN	.	UPI000006DE72	SNV	DCUN1D5,missense_variant,p.Thr206Ser,ENST00000260247,;DCUN1D5,missense_variant,p.Thr121Ser,ENST00000531543,;DCUN1D5,intron_variant,,ENST00000527260,;DCUN1D5,3_prime_UTR_variant,,ENST00000529294,;DCUN1D5,3_prime_UTR_variant,,ENST00000527576,;DCUN1D5,3_prime_UTR_variant,,ENST00000531571,;DCUN1D5,3_prime_UTR_variant,,ENST00000527779,;DCUN1D5,3_prime_UTR_variant,,ENST00000529281,;DCUN1D5,downstream_gene_variant,,ENST00000525420,;DCUN1D5,downstream_gene_variant,,ENST00000583974,;	959	50	67	SUCCESS
OR8D4	338662	.	GRCh37	11	123777473	123777473	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1490886894	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	80	0	ENST00000321355.2:c.335G>A	p.Cys112Tyr	p.C112Y	ENST00000321355	NM_001005197.1	112	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS31698.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGCTACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF21,hmmpanther:PTHR26452,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000325381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321355	Transcript	.	.	ENSG00000181518	14840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0)	.	OR8D4_HUMAN	OR8D4	HGNC	.	.	UPI0000040A83	SNV	OR8D4,missense_variant,p.Cys112Tyr,ENST00000321355,;	365	80	73	SUCCESS
ABCC8	6833	.	GRCh37	11	17496563	17496563	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	21	87	0	ENST00000389817.3:c.160C>T	p.Gln54Ter	p.Q54*	ENST00000389817		54	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS31437.1	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGACTTC	NONE	.	.	hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223	.	.	ENSP00000374467	.	2/39	.	.	.	.	.	.	.	.	CM086731	2/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,stop_gained,p.Gln54Ter,ENST00000389817,;ABCC8,stop_gained,p.Gln54Ter,ENST00000302539,;ABCC8,stop_gained,p.Gln54Ter,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;	229	87	107	SUCCESS
CHST1	8534	.	GRCh37	11	45672282	45672282	+	synonymous_variant	Silent	SNP	G	G	A	rs200379237	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	6	105	0	ENST00000308064.2:c.192C>T	p.Leu64=	p.L64=	ENST00000308064	NM_003654.5	64	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7913.1	192	MUTECT|MUSE	.	AGGATGAGGAT	NONE	byCluster	.	hmmpanther:PTHR10704:SF36,hmmpanther:PTHR10704,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	.	.	ENSP00000309270	.	4/4	.	.	.	.	.	.	.	.	rs200379237	4/4	PASS	ENST00000308064	Transcript	.	.	ENSG00000175264	1969	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHST1_HUMAN	CHST1	HGNC	.	.	UPI0000073EA0	SNV	CHST1,synonymous_variant,p.%3D,ENST00000308064,;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	863	105	119	SUCCESS
OR5L2	26338	.	GRCh37	11	55594822	55594822	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	94	0	ENST00000378397.1:c.128T>A	p.Leu43Gln	p.L43Q	ENST00000378397	NM_001004739.1	43	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31511.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTGGGCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000367650	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378397	Transcript	.	.	ENSG00000205030	8351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	OR5L2_HUMAN	OR5L2	HGNC	.	.	UPI0000041C49	SNV	OR5L2,missense_variant,p.Leu43Gln,ENST00000378397,;	128	94	89	SUCCESS
P2RX3	5024	.	GRCh37	11	57137445	57137445	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143889563	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	32	125	0	ENST00000263314.2:c.1169C>T	p.Ser390Leu	p.S390L	ENST00000263314	NM_002559.3	390	tCg/tTg	0	T:0.0002	.	.	.	.	T	S/L	protein_coding	YES	CCDS7953.1	1169	RADIA|MUTECT|MUSE	.	CGATTCGGGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF8,Prints_domain:PR01310	.	T:0.0005	ENSP00000263314	.	12/12	.	.	.	.	.	.	.	.	rs143889563	12/12	PASS	ENST00000263314	Transcript	.	.	ENSG00000109991	8534	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	P2RX3_HUMAN	P2RX3	HGNC	H0YDR6_HUMAN	.	UPI00000342EB	SNV	P2RX3,missense_variant,p.Ser390Leu,ENST00000263314,;	1203	125	137	SUCCESS
DENND5A	23258	.	GRCh37	11	9225351	9225351	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	41	155	0	ENST00000328194.3:c.805A>G	p.Ile269Val	p.I269V	ENST00000328194	NM_015213.3	269	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31423.1	805	RADIA|MUTECT|MUSE	.	GATTATTGGCC	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000328524	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000328194	Transcript	.	.	ENSG00000184014	19344	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	tolerated(0.8)	.	DEN5A_HUMAN	DENND5A	HGNC	B3KWN5_HUMAN	.	UPI00001C1F29	SNV	DENND5A,missense_variant,p.Ile269Val,ENST00000328194,;DENND5A,missense_variant,p.Ile269Val,ENST00000530044,;DENND5A,missense_variant,p.Ile245Val,ENST00000526707,;DENND5A,non_coding_transcript_exon_variant,,ENST00000532696,;DENND5A,downstream_gene_variant,,ENST00000530780,;	1126	155	185	SUCCESS
TCTN1	79600	.	GRCh37	12	111051919	111051919	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	40	0	ENST00000551590.1:c.-69C>T		p.*23*	ENST00000551590				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41834.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCGCCTG	NONE	.	50	.	.	.	ENSP00000380779	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397659	Transcript	.	.	ENSG00000204852	26113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TECT1_HUMAN	TCTN1	HGNC	.	.	UPI00006E225F	SNV	TCTN1,5_prime_UTR_variant,,ENST00000397655,;TCTN1,5_prime_UTR_variant,,ENST00000550703,;TCTN1,5_prime_UTR_variant,,ENST00000551590,;TCTN1,upstream_gene_variant,,ENST00000471804,;TCTN1,upstream_gene_variant,,ENST00000377654,;TCTN1,upstream_gene_variant,,ENST00000397659,;TCTN1,5_prime_UTR_variant,,ENST00000397656,;TCTN1,5_prime_UTR_variant,,ENST00000495659,;TCTN1,5_prime_UTR_variant,,ENST00000481720,;TCTN1,5_prime_UTR_variant,,ENST00000552318,;TCTN1,5_prime_UTR_variant,,ENST00000498072,;TCTN1,5_prime_UTR_variant,,ENST00000490514,;TCTN1,upstream_gene_variant,,ENST00000546643,;TCTN1,upstream_gene_variant,,ENST00000478122,;TCTN1,upstream_gene_variant,,ENST00000464809,;TCTN1,upstream_gene_variant,,ENST00000480648,;TCTN1,upstream_gene_variant,,ENST00000547868,;	.	40	55	SUCCESS
HECTD4	283450	.	GRCh37	12	112721009	112721009	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	41	147	0	ENST00000550722.1:c.1001T>C	p.Leu334Pro	p.L334P	ENST00000550722	NM_001109662.3	334	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	.	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTAGAAGC	NONE	.	.	.	.	.	ENSP00000449784	.	8/76	.	.	.	.	.	.	.	.	.	8/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Leu84Pro,ENST00000430131,;HECTD4,missense_variant,p.Leu334Pro,ENST00000550722,;HECTD4,missense_variant,p.Leu334Pro,ENST00000377560,;HECTD4,intron_variant,,ENST00000550724,;	1397	147	166	SUCCESS
TMEM132D	121256	.	GRCh37	12	130185090	130185090	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757474690	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	34	146	0	ENST00000422113.2:c.233G>A	p.Arg78Gln	p.R78Q	ENST00000422113	NM_133448.2	78	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS9266.1	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCGGGAC	NONE	byFrequency	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	2/9	.	.	.	.	.	.	.	.	rs757474690,COSM3968085	2/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.989)	.	deleterious(0)	0,1	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Arg78Gln,ENST00000422113,;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	560	146	137	SUCCESS
YARS2	51067	.	GRCh37	12	32908303	32908303	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199769247	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	30	93	0	ENST00000324868.8:c.506C>T	p.Thr169Ile	p.T169I	ENST00000324868	NM_001040436.2	169	aCt/aTt	0	.	A:0	.	A:0.0014	.	A	T/I	protein_coding	YES	CCDS31770.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGTGAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11766:SF0,hmmpanther:PTHR11766,Gene3D:3.40.50.620,Pfam_domain:PF00579,TIGRFAM_domain:TIGR00234,Superfamily_domains:SSF52374	A:0	.	ENSP00000320658	A:0	1/5	.	.	.	.	.	.	.	.	rs199769247	1/5	PASS	ENST00000324868	Transcript	.	A:0.0002	ENSG00000139131	24249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	A:0	tolerated(0.31)	.	SYYM_HUMAN	YARS2	HGNC	.	.	UPI0000046058	SNV	YARS2,missense_variant,p.Thr169Ile,ENST00000324868,;YARS2,missense_variant,p.Thr143Ile,ENST00000548490,;	534	93	113	SUCCESS
AMHR2	269	.	GRCh37	12	53825147	53825147	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs116281343	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	78	0	ENST00000257863.4:c.1612G>T	p.Ala538Ser	p.A538S	ENST00000257863	NM_001164690.1	538	Gcc/Tcc	0	.	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS8858.1	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGCCCCT	NONE	byCluster|by1000G	.	PIRSF_domain:PIRSF037392,hmmpanther:PTHR23255:SF49,hmmpanther:PTHR23255	A:0.001	.	ENSP00000257863	A:0	11/11	.	.	.	.	.	.	.	.	rs116281343	11/11	PASS	ENST00000257863	Transcript	.	A:0.0002	ENSG00000135409	465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	A:0	tolerated_low_confidence(0.23)	.	AMHR2_HUMAN	AMHR2	HGNC	H3BPI9_HUMAN	.	UPI0000125970	SNV	AMHR2,missense_variant,p.Ala538Ser,ENST00000257863,;AMHR2,missense_variant,p.Ala443Ser,ENST00000379791,;AMHR2,3_prime_UTR_variant,,ENST00000550311,;AMHR2,downstream_gene_variant,,ENST00000550839,;AMHR2,downstream_gene_variant,,ENST00000548303,;AMHR2,downstream_gene_variant,,ENST00000552233,;	1692	78	80	SUCCESS
OR4N2	390429	.	GRCh37	14	20296452	20296452	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	29	120	0	ENST00000315947.1:c.845T>C	p.Leu282Ser	p.L282S	ENST00000315947	NM_001004723.1	282	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS32022.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTTGAATC	BUFFER|p.P280S|c.838C>T|5	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000319601	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315947	Transcript	.	.	ENSG00000176294	14742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	deleterious(0)	.	OR4N2_HUMAN	OR4N2	HGNC	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN	.	UPI000004A5DF	SNV	OR4N2,missense_variant,p.Leu282Ser,ENST00000315947,;OR4N2,3_prime_UTR_variant,,ENST00000568211,;OR4N2,downstream_gene_variant,,ENST00000557677,;OR4N2,downstream_gene_variant,,ENST00000557414,;	845	120	140	SUCCESS
ITPK1	3705	.	GRCh37	14	93408041	93408041	+	synonymous_variant	Silent	SNP	C	C	T	rs532039520	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	29	0	ENST00000267615.6:c.1110G>A	p.Ala370=	p.A370=	ENST00000267615		370	gcG/gcA	0	.	T:0.0008	.	T:0	.	T	A	protein_coding	YES	CCDS9907.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCGCGTC	NONE	by1000G	.	hmmpanther:PTHR14217:SF1,hmmpanther:PTHR14217	T:0	.	ENSP00000267615	T:0	11/11	.	.	.	.	.	.	.	.	rs532039520	11/11	PASS	ENST00000267615	Transcript	.	T:0.0002	ENSG00000100605	6177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ITPK1_HUMAN	ITPK1	HGNC	G3V588_HUMAN,G3V4M9_HUMAN	.	UPI000006F88A	SNV	ITPK1,synonymous_variant,p.%3D,ENST00000267615,;ITPK1,synonymous_variant,p.%3D,ENST00000556603,;ITPK1,synonymous_variant,p.%3D,ENST00000555495,;ITPK1,intron_variant,,ENST00000354313,;ITPK1,downstream_gene_variant,,ENST00000553695,;ITPK1,downstream_gene_variant,,ENST00000556954,;	1284	29	43	SUCCESS
PRKXP1	441733	.	GRCh37	15	101098919	101098919	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	56	0	ENST00000561423.2:n.241A>G		p.*81*	ENST00000561423				0	.	.	.	.	.	C	.	snRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTCATCA	NONE	.	1972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000363225	Transcript	.	.	ENSG00000200095	47144	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-181P	HGNC	.	.	.	SNV	RNU6-181P,downstream_gene_variant,,ENST00000363225,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000559349,;RP11-526I2.1,non_coding_transcript_exon_variant,,ENST00000557839,;LINS,downstream_gene_variant,,ENST00000560783,;PRKXP1,non_coding_transcript_exon_variant,,ENST00000561423,;	.	56	61	SUCCESS
NEO1	4756	.	GRCh37	15	73552722	73552722	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746587421	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	10	118	0	ENST00000261908.6:c.2314G>A	p.Ala772Thr	p.A772T	ENST00000261908	NM_002499.3	772	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10247.1	2314	MUTECT|MUSE	.	GTTACGCCATT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000341198	.	16/30	.	.	.	.	.	.	.	.	rs746587421,COSM3744739	16/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.078)	.	tolerated(1)	0,1	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,missense_variant,p.Ala772Thr,ENST00000261908,;NEO1,missense_variant,p.Ala772Thr,ENST00000558964,;NEO1,missense_variant,p.Ala772Thr,ENST00000339362,;NEO1,missense_variant,p.Ala468Thr,ENST00000560328,;NEO1,missense_variant,p.Ala772Thr,ENST00000560262,;RP11-272D12.2,upstream_gene_variant,,ENST00000560337,;NEO1,downstream_gene_variant,,ENST00000558807,;	2761	118	138	SUCCESS
UNC45A	55898	.	GRCh37	15	91493443	91493443	+	synonymous_variant	Silent	SNP	C	C	T	rs1299848455	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	9	87	0	ENST00000418476.2:c.2133C>T	p.Ala711=	p.A711=	ENST00000418476	NM_018671.3	711	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10367.1	2133	MUTECT|MUSE|VARSCANS	.	CAGGCCCTTGC	NONE	.	.	hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF275,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000407487	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000418476	Transcript	.	.	ENSG00000140553	30594	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UN45A_HUMAN	UNC45A	HGNC	.	.	UPI000000D953	SNV	UNC45A,synonymous_variant,p.%3D,ENST00000418476,;UNC45A,synonymous_variant,p.%3D,ENST00000394275,;RCCD1,upstream_gene_variant,,ENST00000555155,;RCCD1,upstream_gene_variant,,ENST00000394258,;AC068831.6,downstream_gene_variant,,ENST00000553321,;RCCD1,upstream_gene_variant,,ENST00000556774,;UNC45A,non_coding_transcript_exon_variant,,ENST00000471780,;UNC45A,non_coding_transcript_exon_variant,,ENST00000487875,;RCCD1,upstream_gene_variant,,ENST00000555737,;UNC45A,downstream_gene_variant,,ENST00000556704,;UNC45A,downstream_gene_variant,,ENST00000554481,;	2173	87	120	SUCCESS
ABCC6	368	.	GRCh37	16	16248587	16248587	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	138	0	ENST00000205557.7:c.4106A>C	p.Glu1369Ala	p.E1369A	ENST00000205557	NM_001171.5	1369	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS10568.1	4106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCTCGTCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,TIGRFAM_domain:TIGR00957,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	.	.	ENSP00000205557	.	29/31	.	.	.	.	.	.	.	.	.	29/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.21)	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,missense_variant,p.Glu1369Ala,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;ABCC6,non_coding_transcript_exon_variant,,ENST00000576204,;	4136	138	127	SUCCESS
GGA2	23062	.	GRCh37	16	23480238	23480238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	41	0	ENST00000309859.4:c.1700C>A	p.Ser567Tyr	p.S567Y	ENST00000309859	NM_015044.4	567	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS10611.1	1700	MUTECT|MUSE	.	TCTGAGATATC	NONE	.	.	PROSITE_profiles:PS50180,hmmpanther:PTHR13856:SF74,hmmpanther:PTHR13856,Pfam_domain:PF02883,Gene3D:2.60.40.1230,SMART_domains:SM00809,Superfamily_domains:SSF49348	.	.	ENSP00000311962	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000309859	Transcript	.	.	ENSG00000103365	16064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GGA2_HUMAN	GGA2	HGNC	H3BMN6_HUMAN	.	UPI000013EF46	SNV	GGA2,missense_variant,p.Ser567Tyr,ENST00000309859,;GGA2,intron_variant,,ENST00000567468,;GGA2,upstream_gene_variant,,ENST00000566685,;GGA2,upstream_gene_variant,,ENST00000567339,;GGA2,non_coding_transcript_exon_variant,,ENST00000568922,;	1783	41	53	SUCCESS
FAM57B	0	.	GRCh37	16	30041827	30041827	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	38	127	0	ENST00000380495.4:c.22G>T	p.Gly8Trp	p.G8W	ENST00000380495	NM_031478.4	8	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS10667.2	22	RADIA|SOMATICSNIPER|VARSCANS	.	CCCCCCGGCCA	NONE	.	.	hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF8	.	.	ENSP00000369863	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000380495	Transcript	.	.	ENSG00000149926	25295	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FA57B_HUMAN	FAM57B	HGNC	F1T0F5_HUMAN	.	UPI000022EE26	SNV	FAM57B,missense_variant,p.Gly8Trp,ENST00000380495,;FAM57B,intron_variant,,ENST00000561666,;FAM57B,upstream_gene_variant,,ENST00000564806,;FAM57B,upstream_gene_variant,,ENST00000279389,;C16orf92,downstream_gene_variant,,ENST00000567847,;FAM57B,downstream_gene_variant,,ENST00000571269,;C16orf92,downstream_gene_variant,,ENST00000569198,;FAM57B,downstream_gene_variant,,ENST00000567037,;FAM57B,intron_variant,,ENST00000569508,;	754	128	141	SUCCESS
NFATC3	4775	.	GRCh37	16	68160388	68160388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	37	114	0	ENST00000346183.3:c.1276G>T	p.Ala426Ser	p.A426S	ENST00000346183	NM_173165.2	426	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS10860.1	1276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCAGCTCAT	NONE	.	.	PROSITE_profiles:PS50254,hmmpanther:PTHR12533:SF6,hmmpanther:PTHR12533,Gene3D:2.60.40.340,Superfamily_domains:SSF49417	.	.	ENSP00000300659	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000346183	Transcript	.	.	ENSG00000072736	7777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	NFAC3_HUMAN	NFATC3	HGNC	B5B2S4_HUMAN,B5B2S1_HUMAN	.	UPI0000000C21	SNV	NFATC3,missense_variant,p.Ala426Ser,ENST00000346183,;NFATC3,missense_variant,p.Ala426Ser,ENST00000329524,;NFATC3,missense_variant,p.Ala411Ser,ENST00000570212,;NFATC3,missense_variant,p.Ala426Ser,ENST00000349223,;NFATC3,missense_variant,p.Ala426Ser,ENST00000575270,;NFATC3,missense_variant,p.Ala411Ser,ENST00000562926,;NFATC3,missense_variant,p.Ala44Ser,ENST00000565750,;NFATC3,non_coding_transcript_exon_variant,,ENST00000566301,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563288,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563796,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563319,;NFATC3,non_coding_transcript_exon_variant,,ENST00000569766,;NFATC3,non_coding_transcript_exon_variant,,ENST00000567152,;NFATC3,non_coding_transcript_exon_variant,,ENST00000535127,;NFATC3,intron_variant,,ENST00000566893,;RP11-67A1.2,downstream_gene_variant,,ENST00000548144,;NFATC3,3_prime_UTR_variant,,ENST00000562171,;NFATC3,non_coding_transcript_exon_variant,,ENST00000379165,;NFATC3,non_coding_transcript_exon_variant,,ENST00000549350,;NFATC3,non_coding_transcript_exon_variant,,ENST00000553077,;NFATC3,intron_variant,,ENST00000539828,;NFATC3,intron_variant,,ENST00000561714,;NFATC3,intron_variant,,ENST00000568466,;	1300	114	137	SUCCESS
SLFN12L	100506736	.	GRCh37	17	33806550	33806550	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	18	90	0	ENST00000260908.7:c.679T>G	p.Phe227Val	p.F227V	ENST00000260908	NM_001195790.1	227	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS56026.1	679	RADIA|MUTECT|MUSE	.	CGAGAAGTTTT	NONE	.	.	hmmpanther:PTHR12155:SF23,hmmpanther:PTHR12155,Pfam_domain:PF04326	.	.	ENSP00000437635	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000260908	Transcript	.	.	ENSG00000205045	33920	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	.	SLFN12L	HGNC	F5H6G3_HUMAN	.	UPI0001E556C0	SNV	SLFN12L,missense_variant,p.Phe256Val,ENST00000361112,;SLFN12L,missense_variant,p.Phe258Val,ENST00000449046,;SLFN12L,missense_variant,p.Phe227Val,ENST00000260908,;RP11-686D22.9,downstream_gene_variant,,ENST00000587076,;SLFN12L,upstream_gene_variant,,ENST00000590802,;SLFN12L,upstream_gene_variant,,ENST00000587436,;	797	90	113	SUCCESS
FBXO47	494188	.	GRCh37	17	37111151	37111151	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	432	29	430	1	ENST00000378079.2:c.465T>C	p.Pro155=	p.P155=	ENST00000378079	NM_001008777.2	155	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32639.1	465	MUTECT|MUSE	.	TGCATAGGAGC	NONE	.	.	.	.	.	ENSP00000367319	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378079	Transcript	.	.	ENSG00000204952	31969	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX47_HUMAN	FBXO47	HGNC	.	.	UPI00004DDAF1	SNV	FBXO47,synonymous_variant,p.%3D,ENST00000378079,;	665	431	461	SUCCESS
PELP1	27043	.	GRCh37	17	4580066	4580066	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	26	166	0	ENST00000574876.1:c.684G>T	p.Leu228Phe	p.L228F	ENST00000574876		228	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	.	684	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCAAGGC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429,Superfamily_domains:SSF48371	.	.	ENSP00000461625	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000574876	Transcript	.	.	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.949)	.	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Leu81Phe,ENST00000570387,;PELP1,missense_variant,p.Leu228Phe,ENST00000269230,;PELP1,missense_variant,p.Leu81Phe,ENST00000436683,;PELP1,missense_variant,p.Leu228Phe,ENST00000574876,;PELP1,missense_variant,p.Leu228Phe,ENST00000301396,;PELP1,missense_variant,p.Leu205Phe,ENST00000570571,;PELP1,missense_variant,p.Leu278Phe,ENST00000572293,;PELP1,downstream_gene_variant,,ENST00000575101,;AC091153.4,intron_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,upstream_gene_variant,,ENST00000575534,;PELP1,upstream_gene_variant,,ENST00000573506,;PELP1,upstream_gene_variant,,ENST00000573242,;	702	166	177	SUCCESS
HOXB4	3214	.	GRCh37	17	46655393	46655393	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	17	0	ENST00000332503.5:c.289C>T	p.Pro97Ser	p.P97S	ENST00000332503	NM_024015.4	97	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11529.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGGCGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF161,hmmpanther:PTHR24326	.	.	ENSP00000328928	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000332503	Transcript	.	.	ENSG00000182742	5115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.28)	.	HXB4_HUMAN	HOXB4	HGNC	.	.	UPI0000062329	SNV	HOXB4,missense_variant,p.Pro97Ser,ENST00000332503,;HOXB3,intron_variant,,ENST00000476342,;HOXB3,intron_variant,,ENST00000472863,;HOXB3,intron_variant,,ENST00000489475,;HOXB3,intron_variant,,ENST00000465120,;HOXB3,intron_variant,,ENST00000460160,;HOXB3,intron_variant,,ENST00000498678,;HOXB3,upstream_gene_variant,,ENST00000485909,;HOXB3,upstream_gene_variant,,ENST00000490677,;HOXB3,upstream_gene_variant,,ENST00000311626,;MIR10A,downstream_gene_variant,,ENST00000385043,;HOXB-AS3,intron_variant,,ENST00000465846,;MIR10A,downstream_gene_variant,,ENST00000548801,;HOXB3,intron_variant,,ENST00000552000,;HOXB3,upstream_gene_variant,,ENST00000464266,;	2081	17	27	SUCCESS
EME1	146956	.	GRCh37	17	48456464	48456464	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	45	104	0	ENST00000338165.4:c.1113-4C>A		p.X371_splice	ENST00000338165	NM_152463.2	371		0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS54141.1	1148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACCAGTG	NONE	.	.	hmmpanther:PTHR21077:SF3,hmmpanther:PTHR21077,Pfam_domain:PF02732,SMART_domains:SM00891	.	.	ENSP00000376952	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000393271	Transcript	.	.	ENSG00000154920	24965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.34)	.	EME1_HUMAN	EME1	HGNC	D6RIT8_HUMAN	.	UPI00001AEAC6	SNV	EME1,missense_variant,p.Thr383Asn,ENST00000511648,;EME1,missense_variant,p.Thr383Asn,ENST00000393271,;EME1,splice_region_variant,,ENST00000510246,;EME1,splice_region_variant,,ENST00000338165,;LRRC59,intron_variant,,ENST00000503118,;EME1,downstream_gene_variant,,ENST00000511519,;LRRC59,downstream_gene_variant,,ENST00000225972,;EME1,splice_region_variant,,ENST00000510007,;EME1,splice_region_variant,,ENST00000513077,;EME1,non_coding_transcript_exon_variant,,ENST00000514211,;EME1,upstream_gene_variant,,ENST00000507616,;EME1,downstream_gene_variant,,ENST00000511711,;	1230	104	145	SUCCESS
MRC2	9902	.	GRCh37	17	60742068	60742068	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs919200382	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	69	0	ENST00000303375.5:c.278G>A	p.Cys93Tyr	p.C93Y	ENST00000303375	NM_006039.4	93	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS11634.1	278	MUTECT|MUSE|VARSCANS	.	GCAGTGCCTGG	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000307513	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,missense_variant,p.Cys93Tyr,ENST00000303375,;Y_RNA,upstream_gene_variant,,ENST00000384652,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	680	69	72	SUCCESS
DNAH17	8632	.	GRCh37	17	76501475	76501475	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61745476	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	65	174	0	ENST00000389840.5:c.4844G>A	p.Arg1615Gln	p.R1615Q	ENST00000389840		1615	cGg/cAg	0	T:0.0074	T:0.0113	.	T:0.0014	.	T	R/Q	protein_coding	YES	.	4844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCCGGAAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08393	T:0	T:0.0004	ENSP00000374490	T:0	31/81	.	.	.	.	.	.	.	.	rs61745476	31/81	common_in_exac	ENST00000389840	Transcript	.	T:0.0032	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Arg1616Gln,ENST00000585328,;DNAH17,missense_variant,p.Arg1615Gln,ENST00000389840,;DNAH17-AS1,downstream_gene_variant,,ENST00000598378,;DNAH17,non_coding_transcript_exon_variant,,ENST00000587177,;	4969	174	193	SUCCESS
DCXR	51181	.	GRCh37	17	79995521	79995521	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	71	0	ENST00000306869.2:c.38C>T	p.Thr13Ile	p.T13I	ENST00000306869	NM_016286.3	13	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11799.1	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGGTGACC	NONE	.	.	hmmpanther:PTHR24311:SF8,hmmpanther:PTHR24311,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000303356	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000306869	Transcript	.	.	ENSG00000169738	18985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DCXR_HUMAN	DCXR	HGNC	.	.	UPI000004C790	SNV	DCXR,missense_variant,p.Thr13Ile,ENST00000582900,;DCXR,missense_variant,p.Thr13Ile,ENST00000579155,;DCXR,missense_variant,p.Pro13Ser,ENST00000577712,;DCXR,missense_variant,p.Thr12Ile,ENST00000581584,;DCXR,missense_variant,p.Thr13Ile,ENST00000306869,;DCXR,upstream_gene_variant,,ENST00000579004,;RAC3,downstream_gene_variant,,ENST00000306897,;RAC3,downstream_gene_variant,,ENST00000580965,;RAC3,downstream_gene_variant,,ENST00000584341,;DCXR,upstream_gene_variant,,ENST00000577532,;RP13-650J16.1,upstream_gene_variant,,ENST00000584705,;RP13-650J16.1,upstream_gene_variant,,ENST00000582558,;DCXR,upstream_gene_variant,,ENST00000584318,;DCXR,upstream_gene_variant,,ENST00000577996,;DCXR,non_coding_transcript_exon_variant,,ENST00000578273,;DCXR,non_coding_transcript_exon_variant,,ENST00000585164,;DCXR,non_coding_transcript_exon_variant,,ENST00000580320,;DCXR,non_coding_transcript_exon_variant,,ENST00000579334,;DCXR,non_coding_transcript_exon_variant,,ENST00000580750,;DCXR,non_coding_transcript_exon_variant,,ENST00000578885,;DCXR,upstream_gene_variant,,ENST00000577286,;DCXR,upstream_gene_variant,,ENST00000585085,;DCXR,upstream_gene_variant,,ENST00000582074,;DCXR,upstream_gene_variant,,ENST00000582613,;DCXR,upstream_gene_variant,,ENST00000579821,;DCXR,upstream_gene_variant,,ENST00000579842,;RAC3,downstream_gene_variant,,ENST00000585014,;	88	71	86	SUCCESS
FASN	2194	.	GRCh37	17	80051184	80051184	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	60	146	0	ENST00000306749.2:c.566A>C	p.Asn189Thr	p.N189T	ENST00000306749	NM_004104.4	189	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS11801.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACATTGATG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.47.10,Pfam_domain:PF00109,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	5/43	.	.	.	.	.	.	.	.	.	5/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.353)	.	tolerated(0.09)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Asn189Thr,ENST00000306749,;	785	146	176	SUCCESS
CDH7	1005	.	GRCh37	18	63477123	63477123	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745894146	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	25	145	0	ENST00000323011.3:c.394C>A	p.Pro132Thr	p.P132T	ENST00000323011	NM_033646.1	132	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS11993.1	394	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACCCGTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381058	.	3/12	.	.	.	.	.	.	.	.	rs745894146	3/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious(0.01)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Pro132Thr,ENST00000397968,;CDH7,missense_variant,p.Pro132Thr,ENST00000536984,;CDH7,missense_variant,p.Pro132Thr,ENST00000323011,;	820	145	157	SUCCESS
CDH7	1005	.	GRCh37	18	63481780	63481780	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	35	101	0	ENST00000323011.3:c.565G>A	p.Ala189Thr	p.A189T	ENST00000323011	NM_033646.1	189	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11993.1	565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGCCAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381058	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Ala189Thr,ENST00000397968,;CDH7,missense_variant,p.Ala189Thr,ENST00000536984,;CDH7,missense_variant,p.Ala189Thr,ENST00000323011,;	991	101	120	SUCCESS
ZNF99	7652	.	GRCh37	19	22941303	22941303	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	63	0	ENST00000596209.1:c.1408A>G	p.Lys470Glu	p.K470E	ENST00000596209	NM_001080409.2	470	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS59369.1	1408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTTTCTAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.73)	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Lys379Glu,ENST00000397104,;ZNF99,missense_variant,p.Lys470Glu,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	1499	63	99	SUCCESS
NFIC	4782	.	GRCh37	19	3452573	3452573	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	67	0	ENST00000443272.2:c.1178C>T	p.Ala393Val	p.A393V	ENST00000443272	NM_001245002.1	393	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS59330.1	1178	RADIA|MUTECT|MUSE|VARSCANS	.	CACGGCCATCC	NONE	.	.	hmmpanther:PTHR11492,Pfam_domain:PF00859	.	.	ENSP00000396843	.	8/11	.	.	.	.	.	.	.	.	COSM1392371	8/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	1	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,missense_variant,p.Ala393Val,ENST00000590282,;NFIC,missense_variant,p.Ala393Val,ENST00000341919,;NFIC,missense_variant,p.Ala384Val,ENST00000395111,;NFIC,missense_variant,p.Ala360Val,ENST00000586919,;NFIC,missense_variant,p.Ala384Val,ENST00000589123,;NFIC,missense_variant,p.Ala360Val,ENST00000346156,;NFIC,missense_variant,p.Ala393Val,ENST00000443272,;NFIC,upstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;NFIC,upstream_gene_variant,,ENST00000589969,;	1229	67	74	SUCCESS
FCGBP	8857	.	GRCh37	19	40434029	40434029	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	32	122	0	ENST00000221347.6:c.240C>A	p.Val80=	p.V80=	ENST00000221347	NM_003890.2	80	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12546.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTGACCTT	NONE	.	.	.	.	.	ENSP00000221347	.	2/36	.	.	.	.	.	.	.	.	COSM3960060	2/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;	248	122	140	SUCCESS
FAM71E1	112703	.	GRCh37	19	50978748	50978748	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs539244786	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	21	0	ENST00000600100.1:c.373A>G	p.Ile125Val	p.I125V	ENST00000600100		125	Atc/Gtc	0	.	A:0	.	A:0	.	C	.	protein_coding	YES	CCDS33081.1	.	MUTECT|MUSE	.	ATAGATGTCGG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000471272	A:0	.	.	.	.	.	.	.	.	.	rs539244786	.	PASS	ENST00000595790	Transcript	.	A:0.0014	ENSG00000142530	25107	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0072	.	.	F71E1_HUMAN	FAM71E1	HGNC	B3KWT0_HUMAN	.	UPI0000378314	SNV	FAM71E1,missense_variant,p.Ile125Val,ENST00000600100,;FAM71E1,intron_variant,,ENST00000595790,;EMC10,upstream_gene_variant,,ENST00000597799,;EMC10,upstream_gene_variant,,ENST00000598585,;EMC10,upstream_gene_variant,,ENST00000376918,;EMC10,upstream_gene_variant,,ENST00000334976,;EMC10,upstream_gene_variant,,ENST00000597426,;CTD-2545M3.2,downstream_gene_variant,,ENST00000598194,;FAM71E1,intron_variant,,ENST00000599206,;FAM71E1,intron_variant,,ENST00000600330,;FAM71E1,intron_variant,,ENST00000602178,;EMC10,upstream_gene_variant,,ENST00000599293,;FAM71E1,upstream_gene_variant,,ENST00000593796,;EMC10,upstream_gene_variant,,ENST00000601780,;	.	21	19	SUCCESS
HAS1	3036	.	GRCh37	19	52220241	52220241	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1568626418	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	64	0	ENST00000222115.1:c.908C>T	p.Ser303Phe	p.S303F	ENST00000222115	NM_001523.2	303	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS12838.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGATACA	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4,Gene3D:3.90.550.10,Pfam_domain:PF13641,Superfamily_domains:SSF53448	.	.	ENSP00000222115	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,missense_variant,p.Ser302Phe,ENST00000540069,;HAS1,missense_variant,p.Ser157Phe,ENST00000594621,;HAS1,missense_variant,p.Ser303Phe,ENST00000222115,;HAS1,missense_variant,p.Ser310Phe,ENST00000601714,;HAS1,missense_variant,p.Ser89Phe,ENST00000601667,;SPACA6P,downstream_gene_variant,,ENST00000573896,;	943	64	79	SUCCESS
LILRB5	10990	.	GRCh37	19	54757883	54757883	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	8	196	0	ENST00000449561.2:c.1355G>T	p.Ser452Ile	p.S452I	ENST00000449561		452	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS46176.1	1355	MUTECT|MUSE	.	CACCACTCTGG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85	.	.	ENSP00000406478	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.05)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Ser352Ile,ENST00000345866,;LILRB5,missense_variant,p.Ser443Ile,ENST00000450632,;LILRB5,missense_variant,p.Ser452Ile,ENST00000449561,;LILRB5,missense_variant,p.Ser451Ile,ENST00000316219,;CTD-2337J16.1,upstream_gene_variant,,ENST00000595133,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;	1426	196	200	SUCCESS
ZNF787	126208	.	GRCh37	19	56600216	56600216	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	20	76	0	ENST00000270459.3:c.325C>G	p.Leu109Val	p.L109V	ENST00000270459	NM_001002836.2	109	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS42634.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGTGCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24408,hmmpanther:PTHR24408:SF1,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000270459	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000270459	Transcript	.	.	ENSG00000142409	26998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ZN787_HUMAN	ZNF787	HGNC	M0R0X7_HUMAN	.	UPI00001C2014	SNV	ZNF787,missense_variant,p.Leu109Val,ENST00000270459,;ZNF787,downstream_gene_variant,,ENST00000586787,;	444	76	86	SUCCESS
MISP	126353	.	GRCh37	19	758004	758004	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1004732824	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	35	0	ENST00000215582.6:c.1058G>A	p.Arg353Gln	p.R353Q	ENST00000215582	NM_173481.2	353	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12042.1	1058	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGGGACA	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.631)	.	deleterious(0.01)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Arg353Gln,ENST00000215582,;	1161	35	35	SUCCESS
AMPD1	270	.	GRCh37	1	115229449	115229449	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	8	153	0	ENST00000520113.2:c.397G>C	p.Asp133His	p.D133H	ENST00000520113		133	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS876.2	397	MUTECT|MUSE	.	TTCATCAATGT	NONE	.	.	hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,PIRSF_domain:PIRSF001251	.	.	ENSP00000430075	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000520113	Transcript	.	.	ENSG00000116748	468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious(0.04)	.	AMPD1_HUMAN	AMPD1	HGNC	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN	.	UPI0000470A27	SNV	AMPD1,missense_variant,p.Asp100His,ENST00000353928,;AMPD1,missense_variant,p.Asp133His,ENST00000520113,;AMPD1,missense_variant,p.Asp129His,ENST00000369538,;AMPD1,non_coding_transcript_exon_variant,,ENST00000485564,;	413	153	208	SUCCESS
CSDE1	7812	.	GRCh37	1	115280135	115280135	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs779821516	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	362	126	488	1	ENST00000438362.2:c.497C>G	p.Pro166Arg	p.P166R	ENST00000438362	NM_001242891.1	166	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS55626.1	497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGGGGCA	NONE	byFrequency	.	hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	.	.	ENSP00000407724	.	5/20	.	.	.	.	.	.	.	.	rs779821516	5/20	PASS	ENST00000438362	Transcript	.	.	ENSG00000009307	29905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.11)	.	.	CSDE1	HGNC	Q9UG93_HUMAN,G5E9Q2_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN	.	UPI0000D99B0F	SNV	CSDE1,missense_variant,p.Pro120Arg,ENST00000358528,;CSDE1,missense_variant,p.Pro120Arg,ENST00000534699,;CSDE1,missense_variant,p.Pro166Arg,ENST00000438362,;CSDE1,intron_variant,,ENST00000369530,;CSDE1,intron_variant,,ENST00000261443,;CSDE1,intron_variant,,ENST00000339438,;CSDE1,intron_variant,,ENST00000529046,;CSDE1,intron_variant,,ENST00000530886,;CSDE1,intron_variant,,ENST00000525132,;CSDE1,downstream_gene_variant,,ENST00000525878,;CSDE1,downstream_gene_variant,,ENST00000525970,;CSDE1,downstream_gene_variant,,ENST00000534389,;	876	489	489	SUCCESS
TCHH	7062	.	GRCh37	1	152084323	152084323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	40	0	ENST00000368804.1:c.1370G>T	p.Trp457Leu	p.W457L	ENST00000368804	NM_007113.3	457	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS41396.1	1370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCAATCG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Trp457Leu,ENST00000368804,;	1370	40	51	SUCCESS
DCST1	149095	.	GRCh37	1	155011941	155011941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	6	65	0	ENST00000295542.1:c.325C>T	p.Pro109Ser	p.P109S	ENST00000295542	NM_152494.3	109	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS1083.1	325	MUTECT|MUSE	.	TAGTACCCAAG	NONE	.	.	hmmpanther:PTHR21041:SF5,hmmpanther:PTHR21041	.	.	ENSP00000295542	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000295542	Transcript	.	.	ENSG00000163357	26539	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DCST1_HUMAN	DCST1	HGNC	.	.	UPI000013E269	SNV	DCST1,missense_variant,p.Pro84Ser,ENST00000423025,;DCST1,missense_variant,p.Pro109Ser,ENST00000392480,;DCST1,missense_variant,p.Pro109Ser,ENST00000368419,;DCST1,missense_variant,p.Pro109Ser,ENST00000295542,;DCST1,missense_variant,p.Pro134Ser,ENST00000525273,;DCST1,downstream_gene_variant,,ENST00000368420,;	421	65	102	SUCCESS
ARHGAP30	257106	.	GRCh37	1	161018501	161018501	+	synonymous_variant	Silent	SNP	C	C	T	rs377370667	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	124	113	0	ENST00000368013.3:c.2310G>A	p.Glu770=	p.E770=	ENST00000368013	NM_181720.2	770	gaG/gaA	0	G:0	.	.	.	.	T	E	protein_coding	YES	CCDS30918.1	2310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCTCTAG	NONE	byCluster	.	hmmpanther:PTHR15729	.	G:0.0001	ENSP00000356992	.	12/12	.	.	.	.	.	.	.	.	rs377370667	12/12	PASS	ENST00000368013	Transcript	.	.	ENSG00000186517	27414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG30_HUMAN	ARHGAP30	HGNC	.	.	UPI0000160677	SNV	ARHGAP30,synonymous_variant,p.%3D,ENST00000368013,;ARHGAP30,synonymous_variant,p.%3D,ENST00000368015,;ARHGAP30,intron_variant,,ENST00000368016,;USF1,upstream_gene_variant,,ENST00000435396,;USF1,upstream_gene_variant,,ENST00000368021,;USF1,upstream_gene_variant,,ENST00000534633,;USF1,upstream_gene_variant,,ENST00000368020,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;USF1,upstream_gene_variant,,ENST00000496363,;ARHGAP30,downstream_gene_variant,,ENST00000490279,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;USF1,upstream_gene_variant,,ENST00000473969,;USF1,upstream_gene_variant,,ENST00000491629,;USF1,upstream_gene_variant,,ENST00000529476,;	2631	113	176	SUCCESS
KDM5B	10765	.	GRCh37	1	202725610	202725610	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	8	122	0	ENST00000367265.3:c.1232G>A	p.Trp411Ter	p.W411*	ENST00000367265	NM_006618.3	411	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS30974.1	1232	MUTECT|MUSE	.	GTCTCCAAAAT	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3	.	.	ENSP00000356234	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000367265	Transcript	.	.	ENSG00000117139	18039	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KDM5B_HUMAN	KDM5B	HGNC	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN	.	UPI0000032AA2	SNV	KDM5B,stop_gained,p.Trp253Ter,ENST00000235790,;KDM5B,stop_gained,p.Trp447Ter,ENST00000367264,;KDM5B,stop_gained,p.Trp411Ter,ENST00000367265,;KDM5B,non_coding_transcript_exon_variant,,ENST00000456180,;	2397	122	196	SUCCESS
SH2D5	400745	.	GRCh37	1	21050633	21050633	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	38	180	0	ENST00000444387.2:c.742G>C	p.Gly248Arg	p.G248R	ENST00000444387	NM_001103161.1	248	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS44080.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCCGAGC	NONE	.	.	hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF24	.	.	ENSP00000406026	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000444387	Transcript	.	.	ENSG00000189410	28819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SH2D5_HUMAN	SH2D5	HGNC	E5RJW5_HUMAN,E5RGV2_HUMAN,E5RGJ3_HUMAN	.	UPI0000EE70C3	SNV	SH2D5,missense_variant,p.Gly164Arg,ENST00000375031,;SH2D5,missense_variant,p.Gly248Arg,ENST00000444387,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000519434,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	1140	180	165	SUCCESS
SLC30A1	7779	.	GRCh37	1	211751728	211751728	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	137	156	0	ENST00000367001.4:c.227G>T	p.Arg76Leu	p.R76L	ENST00000367001	NM_021194.2	76	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS1499.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTCGGATC	NONE	.	.	hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Gene3D:3h90A01,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606	.	.	ENSP00000355968	.	1/2	.	.	.	.	.	.	.	.	COSM3789452,COSM88667	1/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.99)	.	deleterious(0)	1,1	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	SNV	SLC30A1,missense_variant,p.Arg76Leu,ENST00000367001,;RP11-359E8.5,downstream_gene_variant,,ENST00000567907,;	357	156	199	SUCCESS
USH2A	7399	.	GRCh37	1	216595468	216595469	+	inframe_insertion	In_Frame_Ins	INS	-	-	AGA	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	117	98	136	0	ENST00000307340.3:c.208_210dup	p.Ser70dup	p.S70dup	ENST00000307340	NM_206933.2	70	-/TCT	0	.	.	.	.	.	AGA	-/S	protein_coding	YES	CCDS31025.1	210-211	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAGCAGAGC	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	.	.	ENSP00000305941	.	2/72	.	.	.	.	.	.	.	.	.	2/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	insertion	USH2A,inframe_insertion,p.Ser70dup,ENST00000366942,;USH2A,inframe_insertion,p.Ser70dup,ENST00000366943,;USH2A,inframe_insertion,p.Ser70dup,ENST00000307340,;	597-598	136	215	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220340743	220340743	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	173	174	1	ENST00000358951.2:c.2981-2A>G		p.X994_splice	ENST00000358951	NM_012414.3	994		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31028.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCTGAAAG	NONE	.	.	.	.	.	ENSP00000351832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	HIGH	25/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,splice_acceptor_variant,,ENST00000358951,;	.	175	254	SUCCESS
HIST3H2A	0	.	GRCh37	1	228645397	228645397	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1223770030	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	294	17	169	0	ENST00000366695.2:c.122C>T	p.Ser41Leu	p.S41L	ENST00000366695	NM_033445.2	41	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1573.1	122	MUTECT|MUSE	.	GCTCCGAATAG	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113	.	.	ENSP00000355656	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366695	Transcript	.	.	ENSG00000181218	20507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.352)	.	deleterious_low_confidence(0)	.	H2A3_HUMAN	HIST3H2A	HGNC	.	.	UPI0000073CEF	SNV	HIST3H2A,missense_variant,p.Ser41Leu,ENST00000366695,;HIST3H2BB,upstream_gene_variant,,ENST00000369160,;MIR4666A,upstream_gene_variant,,ENST00000580160,;	164	169	311	SUCCESS
CEP170	9859	.	GRCh37	1	243354614	243354614	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	95	108	0	ENST00000366542.1:c.814A>T	p.Ile272Leu	p.I272L	ENST00000366542	NM_014812.2	272	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS44339.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATATGGG	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17	.	.	ENSP00000355500	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000366542	Transcript	.	.	ENSG00000143702	28920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.32)	.	CE170_HUMAN	CEP170	HGNC	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN	.	UPI0000470238	SNV	CEP170,missense_variant,p.Ile174Leu,ENST00000336415,;CEP170,missense_variant,p.Ile272Leu,ENST00000366544,;CEP170,missense_variant,p.Ile272Leu,ENST00000366542,;CEP170,missense_variant,p.Ile272Leu,ENST00000366543,;CEP170,upstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000521911,;	866	108	150	SUCCESS
PAX1	5075	.	GRCh37	20	21687002	21687002	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	33	0	ENST00000398485.2:c.287-74C>A		p.*96*	ENST00000398485	NM_006192.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13146.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCGCGTG	NONE	.	.	.	.	.	ENSP00000381499	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398485	Transcript	1	.	ENSG00000125813	8615	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAX1_HUMAN	PAX1	HGNC	.	.	UPI000179A786	SNV	PAX1,synonymous_variant,p.%3D,ENST00000444366,;PAX1,intron_variant,,ENST00000398485,;PAX1,intron_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	.	33	27	SUCCESS
CTCFL	140690	.	GRCh37	20	56090848	56090848	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	61	0	ENST00000243914.3:c.1102C>A	p.Arg368Ser	p.R368S	ENST00000243914		368	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS58780.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCTCCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF96,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000415579	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000423479	Transcript	.	.	ENSG00000124092	16234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CTCFL_HUMAN	CTCFL	HGNC	.	.	UPI000157860F	SNV	CTCFL,missense_variant,p.Arg368Ser,ENST00000371196,;CTCFL,missense_variant,p.Arg368Ser,ENST00000429804,;CTCFL,missense_variant,p.Arg163Ser,ENST00000433949,;CTCFL,missense_variant,p.Arg368Ser,ENST00000608263,;CTCFL,missense_variant,p.Arg368Ser,ENST00000423479,;CTCFL,missense_variant,p.Arg368Ser,ENST00000609232,;CTCFL,missense_variant,p.Arg106Ser,ENST00000608903,;CTCFL,missense_variant,p.Arg106Ser,ENST00000502686,;CTCFL,missense_variant,p.Arg368Ser,ENST00000608425,;CTCFL,missense_variant,p.Arg368Ser,ENST00000608440,;CTCFL,missense_variant,p.Arg368Ser,ENST00000422869,;CTCFL,missense_variant,p.Arg368Ser,ENST00000243914,;CTCFL,missense_variant,p.Arg163Ser,ENST00000539382,;CTCFL,intron_variant,,ENST00000432255,;CTCFL,downstream_gene_variant,,ENST00000481655,;CTCFL,downstream_gene_variant,,ENST00000608158,;CTCFL,non_coding_transcript_exon_variant,,ENST00000608858,;CTCFL,missense_variant,p.Arg368Ser,ENST00000426658,;CTCFL,missense_variant,p.Arg368Ser,ENST00000608720,;CTCFL,missense_variant,p.Arg368Ser,ENST00000422109,;CTCFL,non_coding_transcript_exon_variant,,ENST00000607923,;CTCFL,non_coding_transcript_exon_variant,,ENST00000608108,;	1193	61	55	SUCCESS
SLC9A2	6549	.	GRCh37	2	103236548	103236548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	62	180	0	ENST00000233969.2:c.241C>A	p.Pro81Thr	p.P81T	ENST00000233969	NM_003048.3	81	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS2062.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCCCCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	.	.	ENSP00000233969	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000233969	Transcript	.	.	ENSG00000115616	11072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	.	deleterious(0)	.	SL9A2_HUMAN	SLC9A2	HGNC	.	.	UPI000012FD21	SNV	SLC9A2,missense_variant,p.Pro81Thr,ENST00000233969,;	383	180	195	SUCCESS
PSD4	23550	.	GRCh37	2	113940649	113940649	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	5	75	0	ENST00000245796.6:c.616C>T	p.Pro206Ser	p.P206S	ENST00000245796	NM_012455.2	206	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS33276.1	616	MUTECT|MUSE	.	GCCCACCTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65	.	.	ENSP00000245796	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000245796	Transcript	.	.	ENSG00000125637	19096	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.164)	.	deleterious_low_confidence(0.01)	.	PSD4_HUMAN	PSD4	HGNC	B3KN27_HUMAN	.	UPI00004A0748	SNV	PSD4,missense_variant,p.Pro206Ser,ENST00000441564,;PSD4,missense_variant,p.Pro206Ser,ENST00000245796,;PSD4,intron_variant,,ENST00000485525,;PSD4,downstream_gene_variant,,ENST00000465917,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	811	75	68	SUCCESS
COL4A4	1286	.	GRCh37	2	227919329	227919329	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	8	118	0	ENST00000396625.3:c.2841G>T	p.Arg947=	p.R947=	ENST00000396625	NM_000092.4	947	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42828.1	2841	MUTECT|MUSE	.	AGTCCCCGGTC	NONE	.	.	hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000379866	.	31/48	.	.	.	.	.	.	.	.	.	31/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,synonymous_variant,p.%3D,ENST00000329662,;COL4A4,synonymous_variant,p.%3D,ENST00000396625,;	3049	118	143	SUCCESS
NEU2	4759	.	GRCh37	2	233897434	233897434	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	27	116	0	ENST00000233840.3:c.53A>T	p.His18Leu	p.H18L	ENST00000233840	NM_005383.2	18	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS2501.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCATGCCT	NONE	.	.	hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Superfamily_domains:SSF50939	.	.	ENSP00000233840	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000233840	Transcript	.	.	ENSG00000115488	7759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.65)	.	NEUR2_HUMAN	NEU2	HGNC	.	.	UPI000013C98F	SNV	NEU2,missense_variant,p.His18Leu,ENST00000233840,;	53	116	114	SUCCESS
LINC01119	100134259	.	GRCh37	2	47083082	47083082	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	60	0	ENST00000422294.1:c.109A>C	p.Met37Leu	p.M37L	ENST00000422294		37	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	.	109	MUTECT|MUSE	.	AGCCAATGATG	NONE	.	.	.	.	.	ENSP00000412271	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000422294	Transcript	.	.	ENSG00000239332	49262	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	LINC01119	HGNC	C9J0P5_HUMAN	.	UPI00018815C7	SNV	LINC01119,missense_variant,p.Met37Leu,ENST00000422294,;AC016722.3,upstream_gene_variant,,ENST00000453936,;LINC01119,non_coding_transcript_exon_variant,,ENST00000490950,;LINC01119,non_coding_transcript_exon_variant,,ENST00000495449,;LINC01119,non_coding_transcript_exon_variant,,ENST00000468141,;	237	60	86	SUCCESS
RPS27A	6233	.	GRCh37	2	55460543	55460543	+	synonymous_variant	Silent	SNP	G	G	A	rs767642761	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	4	91	0	ENST00000272317.6:c.93G>A	p.Gln31=	p.Q31=	ENST00000272317	NM_002954.5	31	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS33202.1	93	MUTECT|MUSE	.	ATCCAGGATAA	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF76,PROSITE_patterns:PS00299,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236,Prints_domain:PR00348	.	.	ENSP00000272317	.	3/6	.	.	.	.	.	.	.	.	rs767642761	3/6	PASS	ENST00000272317	Transcript	.	.	ENSG00000143947	10417	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS27A_HUMAN	RPS27A	HGNC	Q8WYN9_HUMAN,M0R1V7_HUMAN,J3QTR3_HUMAN,J3QSA3_HUMAN,F5GZ39_HUMAN,B2RDW1_HUMAN,A8CGI2_HUMAN	.	UPI0000000505	SNV	RPS27A,synonymous_variant,p.%3D,ENST00000449323,;RPS27A,synonymous_variant,p.%3D,ENST00000404735,;RPS27A,synonymous_variant,p.%3D,ENST00000272317,;RPS27A,synonymous_variant,p.%3D,ENST00000402285,;CLHC1,upstream_gene_variant,,ENST00000406437,;MTIF2,downstream_gene_variant,,ENST00000394600,;CLHC1,upstream_gene_variant,,ENST00000401408,;MTIF2,downstream_gene_variant,,ENST00000263629,;CLHC1,upstream_gene_variant,,ENST00000406076,;CLHC1,upstream_gene_variant,,ENST00000451916,;CLHC1,upstream_gene_variant,,ENST00000407122,;MTIF2,downstream_gene_variant,,ENST00000403721,;CLHC1,upstream_gene_variant,,ENST00000464243,;CLHC1,upstream_gene_variant,,ENST00000463300,;CLHC1,upstream_gene_variant,,ENST00000466020,;CLHC1,upstream_gene_variant,,ENST00000494539,;CLHC1,upstream_gene_variant,,ENST00000487320,;RPS27A,non_coding_transcript_exon_variant,,ENST00000471772,;RPS27A,non_coding_transcript_exon_variant,,ENST00000494756,;RPS27A,non_coding_transcript_exon_variant,,ENST00000468810,;RPS27A,non_coding_transcript_exon_variant,,ENST00000478196,;RPS27A,non_coding_transcript_exon_variant,,ENST00000495843,;RPS27A,downstream_gene_variant,,ENST00000463185,;CLHC1,upstream_gene_variant,,ENST00000428621,;	417	91	87	SUCCESS
MYH15	22989	.	GRCh37	3	108179187	108179187	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	19	246	0	ENST00000273353.3:c.1952A>T	p.Lys651Met	p.K651M	ENST00000273353	NM_014981.1	651	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS43127.1	1952	MUTECT|MUSE	.	CTTTCTTTCGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000273353	.	18/42	.	.	.	.	.	.	.	.	.	18/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Lys651Met,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000495753,;MYH15,upstream_gene_variant,,ENST00000478998,;	2009	246	258	SUCCESS
VWA5B2	90113	.	GRCh37	3	183959046	183959046	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs994773737	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	16	149	0	ENST00000426955.2:c.3034G>A	p.Asp1012Asn	p.D1012N	ENST00000426955	NM_138345.1	1012	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54686.1	3034	MUTECT|MUSE|VARSCANS	.	TGGGGGACCCT	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.53)	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Asp794Asn,ENST00000273794,;VWA5B2,missense_variant,p.Asp1012Asn,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,upstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000493493,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;VWA5B2,downstream_gene_variant,,ENST00000474580,;ALG3,downstream_gene_variant,,ENST00000411922,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	3134	149	163	SUCCESS
MST1R	4486	.	GRCh37	3	49934971	49934971	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	46	160	0	ENST00000296474.3:c.2028G>T	p.Leu676=	p.L676=	ENST00000296474	NM_002447.2	676	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2807.1	2028	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCAGCAC	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,SMART_domains:SM00429,PIRSF_domain:PIRSF000617	.	.	ENSP00000296474	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,synonymous_variant,p.%3D,ENST00000344206,;MST1R,synonymous_variant,p.%3D,ENST00000296474,;MST1R,upstream_gene_variant,,ENST00000440292,;MST1R,upstream_gene_variant,,ENST00000434765,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;MST1R,synonymous_variant,p.%3D,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,downstream_gene_variant,,ENST00000493535,;MST1R,upstream_gene_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000490053,;MST1R,downstream_gene_variant,,ENST00000485044,;	2056	160	158	SUCCESS
RPP14	11102	.	GRCh37	3	58303188	58303189	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	53	0	ENST00000295959.5:c.340_341del	p.Leu114IlefsTer3	p.L114Ifs*3	ENST00000295959	NM_007042.4	114	TTa/a	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS2888.1	340-341	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGCATTATCTG	NONE	.	.	hmmpanther:PTHR15441:SF1,hmmpanther:PTHR15441,Superfamily_domains:SSF160350	.	.	ENSP00000412894	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000445193	Transcript	.	.	ENSG00000163684	30327	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPP14_HUMAN	RPP14	HGNC	.	.	UPI000013E2DD	deletion	RPP14,frameshift_variant,p.Leu114IlefsTer3,ENST00000445193,;RPP14,frameshift_variant,p.Leu114IlefsTer3,ENST00000295959,;RPP14,frameshift_variant,p.Leu114IlefsTer3,ENST00000466547,;RPP14,upstream_gene_variant,,ENST00000528153,;RPP14,non_coding_transcript_exon_variant,,ENST00000461393,;RPP14,non_coding_transcript_exon_variant,,ENST00000481972,;RPP14,non_coding_transcript_exon_variant,,ENST00000476007,;RPP14,non_coding_transcript_exon_variant,,ENST00000474660,;RPP14,non_coding_transcript_exon_variant,,ENST00000475412,;RPP14,non_coding_transcript_exon_variant,,ENST00000477305,;RPP14,upstream_gene_variant,,ENST00000462046,;RPP14,downstream_gene_variant,,ENST00000461797,;RPP14,downstream_gene_variant,,ENST00000498618,;RPP14,non_coding_transcript_exon_variant,,ENST00000463550,;	751-752	53	103	SUCCESS
KIAA1109	84162	.	GRCh37	4	123260512	123260512	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	43	149	0	ENST00000264501.4:c.12301A>G	p.Asn4101Asp	p.N4101D	ENST00000264501		4101	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS43267.1	12301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAATGCT	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	72/86	.	.	.	.	.	.	.	.	.	72/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Asn477Asp,ENST00000306802,;KIAA1109,missense_variant,p.Asn770Asp,ENST00000438707,;KIAA1109,missense_variant,p.Asn4101Asp,ENST00000264501,;KIAA1109,missense_variant,p.Asn47Asp,ENST00000442707,;KIAA1109,missense_variant,p.Asn4101Asp,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000483357,;	12674	149	152	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148743969	148743969	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs762153577	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	35	149	0	ENST00000336498.3:c.246C>G	p.Cys82Trp	p.C82W	ENST00000336498	NM_024605.3	82	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS34075.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCATAGG	NONE	.	.	hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1y2oA00,Superfamily_domains:SSF103657	.	.	ENSP00000336923	.	2/23	.	.	.	.	.	.	.	.	rs762153577	2/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0.02)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Cys82Trp,ENST00000336498,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000510379,;	485	149	189	SUCCESS
KLB	152831	.	GRCh37	4	39409060	39409060	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	5	115	0	ENST00000257408.4:c.491T>C	p.Val164Ala	p.V164A	ENST00000257408	NM_175737.3	164	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3451.1	491	MUTECT|MUSE	.	AATAGTAACAG	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(1)	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,missense_variant,p.Val164Ala,ENST00000257408,;MIR5591,upstream_gene_variant,,ENST00000578248,;	588	115	144	SUCCESS
EVC	2121	.	GRCh37	4	5721031	5721031	+	synonymous_variant	Silent	SNP	G	G	A	rs140615894	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	20	89	0	ENST00000264956.6:c.231G>A	p.Ser77=	p.S77=	ENST00000264956	NM_153717.2	77	tcG/tcA	0	.	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS3383.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGGAAAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	A:0.001	.	ENSP00000372120	A:0	2/24	.	.	.	.	.	.	.	.	rs140615894,COSM4125270	2/24	PASS	ENST00000382674	Transcript	1	A:0.0002	ENSG00000072840	3497	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,synonymous_variant,p.%3D,ENST00000382674,;EVC,synonymous_variant,p.%3D,ENST00000264956,;EVC,synonymous_variant,p.%3D,ENST00000509451,;	415	89	112	SUCCESS
ACOX3	8310	.	GRCh37	4	8418225	8418225	+	synonymous_variant	Silent	SNP	G	G	A	rs146635266	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	77	0	ENST00000356406.5:c.24C>T	p.Gly8=	p.G8=	ENST00000356406	NM_003501.2	8	ggC/ggT	0	A:0.0002	A:0.0008	.	A:0	.	A	G	protein_coding	YES	CCDS3401.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCGCCTCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10909:SF11,hmmpanther:PTHR10909,PIRSF_domain:PIRSF000168	A:0	A:0	ENSP00000348775	A:0	2/18	.	.	.	.	.	.	.	.	rs146635266,COSM3696755	2/18	PASS	ENST00000356406	Transcript	.	A:0.0002	ENSG00000087008	121	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	ACOX3_HUMAN	ACOX3	HGNC	D6RJ89_HUMAN	.	UPI000013EEE2	SNV	ACOX3,synonymous_variant,p.%3D,ENST00000356406,;ACOX3,synonymous_variant,p.%3D,ENST00000413009,;ACOX3,synonymous_variant,p.%3D,ENST00000503233,;ACOX3,intron_variant,,ENST00000514423,;ACOX3,upstream_gene_variant,,ENST00000510365,;	102	77	106	SUCCESS
MMRN1	22915	.	GRCh37	4	90856570	90856570	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	41	198	0	ENST00000264790.2:c.1739C>A	p.Ser580Tyr	p.S580Y	ENST00000264790	NM_007351.2	580	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS3635.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTCTTTGG	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	deleterious(0.03)	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,missense_variant,p.Ser580Tyr,ENST00000394980,;MMRN1,missense_variant,p.Ser322Tyr,ENST00000508372,;MMRN1,missense_variant,p.Ser580Tyr,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	2058	198	180	SUCCESS
AQPEP	0	.	GRCh37	5	115327845	115327845	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748634842	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	103	0	ENST00000357872.4:c.1131C>A	p.Asp377Glu	p.D377E	ENST00000357872	NM_173800.4	377	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4124.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACAACCA	NONE	.	.	Prints_domain:PR00756,Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533	.	.	ENSP00000350541	.	5/20	.	.	.	.	.	.	.	.	rs748634842	5/20	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	tolerated(0.24)	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,missense_variant,p.Asp377Glu,ENST00000357872,;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,missense_variant,p.Asp377Glu,ENST00000504467,;AQPEP,upstream_gene_variant,,ENST00000512314,;AQPEP,upstream_gene_variant,,ENST00000514509,;AQPEP,upstream_gene_variant,,ENST00000503329,;	1255	103	107	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130797637	130797637	+	synonymous_variant	Silent	SNP	C	C	T	rs767193736	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	43	119	0	ENST00000509018.1:c.2625G>A	p.Leu875=	p.L875=	ENST00000509018	NM_016340.5	875	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54900.1	2625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAACAAATC	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF171,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000296859	.	19/29	.	.	.	.	.	.	.	.	rs767193736	19/29	PASS	ENST00000296859	Transcript	.	.	ENSG00000158987	20655	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF6_HUMAN	RAPGEF6	HGNC	D6RB02_HUMAN	.	UPI000189A836	SNV	RAPGEF6,synonymous_variant,p.%3D,ENST00000512052,;RAPGEF6,synonymous_variant,p.%3D,ENST00000307984,;RAPGEF6,synonymous_variant,p.%3D,ENST00000507093,;CTC-432M15.3,synonymous_variant,p.%3D,ENST00000514667,;RAPGEF6,synonymous_variant,p.%3D,ENST00000296859,;RAPGEF6,synonymous_variant,p.%3D,ENST00000509018,;RAPGEF6,synonymous_variant,p.%3D,ENST00000308008,;RAPGEF6,downstream_gene_variant,,ENST00000510071,;RAPGEF6,synonymous_variant,p.%3D,ENST00000515170,;RAPGEF6,downstream_gene_variant,,ENST00000504919,;	2706	119	136	SUCCESS
AFF4	27125	.	GRCh37	5	132216770	132216771	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	212	46	183	0	ENST00000265343.5:c.3472dup	p.Asp1158GlyfsTer9	p.D1158Gfs*9	ENST00000265343	NM_014423.3	1158	gat/gGat	0	.	.	.	.	.	C	D/GX	protein_coding	YES	CCDS4164.1	3472-3473	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCATCCTGG	NONE	.	.	hmmpanther:PTHR10528:SF15,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000265343	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000265343	Transcript	1	.	ENSG00000072364	17869	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AFF4_HUMAN	AFF4	HGNC	C9JCE0_HUMAN	.	UPI000006F558	insertion	AFF4,frameshift_variant,p.Asp1158GlyfsTer9,ENST00000265343,;	3852-3853	183	258	SUCCESS
KLHL3	26249	.	GRCh37	5	136974747	136974747	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	6	73	0	ENST00000309755.4:c.1114G>C	p.Asp372His	p.D372H	ENST00000309755	NM_017415.2	372	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS4192.1	1114	MUTECT|MUSE	.	CTGGTCCTTCA	NONE	.	.	Superfamily_domains:0052715,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,Pfam_domain:PF01344,hmmpanther:PTHR24412:SF179,hmmpanther:PTHR24412	.	.	ENSP00000312397	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000309755	Transcript	1	.	ENSG00000146021	6354	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	KLHL3_HUMAN	KLHL3	HGNC	Q8N4I8_HUMAN,Q49A42_HUMAN	.	UPI000012DE05	SNV	KLHL3,missense_variant,p.Asp290His,ENST00000506491,;KLHL3,missense_variant,p.Asp372His,ENST00000309755,;KLHL3,missense_variant,p.Asp332His,ENST00000505853,;KLHL3,missense_variant,p.Asp340His,ENST00000508657,;KLHL3,intron_variant,,ENST00000541417,;KLHL3,non_coding_transcript_exon_variant,,ENST00000502381,;KLHL3,non_coding_transcript_exon_variant,,ENST00000506873,;KLHL3,intron_variant,,ENST00000504208,;	1558	73	82	SUCCESS
HBEGF	1839	.	GRCh37	5	139714267	139714267	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	90	0	ENST00000230990.6:c.621C>T	p.Ser207=	p.S207=	ENST00000230990	NM_001945.2	207	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4223.1	621	MUTECT|MUSE	.	CAGTGGGAATT	NONE	.	.	.	.	.	ENSP00000230990	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000230990	Transcript	.	.	ENSG00000113070	3059	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HBEGF_HUMAN	HBEGF	HGNC	Q9UMJ6_HUMAN	.	UPI0000035E3F	SNV	HBEGF,synonymous_variant,p.%3D,ENST00000507104,;HBEGF,synonymous_variant,p.%3D,ENST00000230990,;HBEGF,non_coding_transcript_exon_variant,,ENST00000482211,;HBEGF,downstream_gene_variant,,ENST00000498452,;	924	90	97	SUCCESS
PCDHB14	56122	.	GRCh37	5	140603901	140603910	+	frameshift_variant	Frame_Shift_Del	DEL	GAAAAATATC	GAAAAATATC	-	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	GAAAAATATC	GAAAAATATC	.	.	.	.	.	.	.	.	.	.	.	.	.	77	18	109	0	ENST00000239449.4:c.824_833del	p.Gly275ValfsTer26	p.G275Vfs*26	ENST00000239449	NM_018934.2	275	gGAAAAATATCt/gt	0	.	.	.	.	.	-	GKIS/X	protein_coding	YES	CCDS4256.1	824-833	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTATGGAAAAATATCTTACA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	deletion	PCDHB14,frameshift_variant,p.Gly275ValfsTer26,ENST00000239449,;PCDHB14,frameshift_variant,p.Gly122ValfsTer26,ENST00000515856,;	824-833	109	95	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	140650	140650	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	309	11	292	0	ENST00000283426.6:c.228T>A	p.Thr76=	p.T76=	ENST00000283426	NM_052909.3	76	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34124.1	228	MUTECT|MUSE	.	CGGACTCTTCC	NONE	.	.	.	.	.	ENSP00000283426	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,synonymous_variant,p.%3D,ENST00000283426,;PLEKHG4B,upstream_gene_variant,,ENST00000502646,;CTD-2231H16.1,downstream_gene_variant,,ENST00000512035,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	278	292	320	SUCCESS
ARAP3	64411	.	GRCh37	5	141034964	141034964	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs372420144	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	48	154	0	ENST00000239440.4:c.4114C>T	p.Arg1372Ter	p.R1372*	ENST00000239440	NM_022481.5	1372	Cga/Tga	0	A:0.0002	.	.	.	.	A	R/*	protein_coding	YES	CCDS4266.1	4114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCGCCGCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9	.	A:0.0001	ENSP00000239440	.	32/33	.	.	.	.	.	.	.	.	rs372420144	32/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,stop_gained,p.Arg1203Ter,ENST00000508305,;ARAP3,stop_gained,p.Arg1372Ter,ENST00000239440,;ARAP3,intron_variant,,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000522783,;FCHSD1,upstream_gene_variant,,ENST00000435817,;FCHSD1,upstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000522126,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	4180	154	177	SUCCESS
PTTG1	9232	.	GRCh37	5	159855662	159855662	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	61	0	ENST00000352433.5:c.583C>A	p.Pro195Thr	p.P195T	ENST00000352433	NM_004219.2	195	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4353.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACCTGTT	NONE	.	.	hmmpanther:PTHR10418	.	.	ENSP00000377536	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000393964	Transcript	.	.	ENSG00000164611	9690	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.807)	.	deleterious(0)	.	PTTG1_HUMAN	PTTG1	HGNC	Q6IAL9_HUMAN,Q2VPE7_HUMAN,C4TNW4_HUMAN	.	UPI0000044DCB	SNV	PTTG1,missense_variant,p.Pro195Thr,ENST00000520452,;PTTG1,missense_variant,p.Pro195Thr,ENST00000352433,;PTTG1,missense_variant,p.Pro195Thr,ENST00000393964,;PTTG1,downstream_gene_variant,,ENST00000517480,;PTTG1,non_coding_transcript_exon_variant,,ENST00000519287,;PTTG1,downstream_gene_variant,,ENST00000523659,;	986	61	66	SUCCESS
MAST4	375449	.	GRCh37	5	66460639	66460639	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	82	0	ENST00000403625.2:c.5632C>T	p.Pro1878Ser	p.P1878S	ENST00000403625	NM_001164664.1	1878	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS54861.1	5632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCCCCCC	NONE	.	.	.	.	.	ENSP00000385727	.	29/29	.	.	.	.	.	.	.	.	COSM194480	29/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.233)	.	.	1	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Pro1689Ser,ENST00000403666,;MAST4,missense_variant,p.Pro1881Ser,ENST00000404260,;MAST4,missense_variant,p.Pro935Ser,ENST00000443808,;MAST4,missense_variant,p.Pro1684Ser,ENST00000261569,;MAST4,missense_variant,p.Pro1699Ser,ENST00000405643,;MAST4,missense_variant,p.Pro1878Ser,ENST00000403625,;	5927	82	99	SUCCESS
LAMA4	3910	.	GRCh37	6	112574988	112574988	+	intron_variant	Intron	SNP	A	A	G	rs782309728	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	14	123	0	ENST00000230538.7:c.195+170T>C		p.*65*	ENST00000230538	NM_001105206.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43491.1	.	MUTECT|MUSE|VARSCANS	.	ATGCAACTTAC	NONE	byFrequency	.	.	.	.	ENSP00000230538	.	.	.	.	.	.	.	.	.	.	rs782309728	.	PASS	ENST00000230538	Transcript	.	.	ENSG00000112769	6484	.	.	MODIFIER	2/38	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMA4_HUMAN	LAMA4	HGNC	E5RK79_HUMAN,E5RHF3_HUMAN,E5RFQ2_HUMAN,E5RFD7_HUMAN	.	UPI000013C937	SNV	LAMA4,3_prime_UTR_variant,,ENST00000453937,;LAMA4,3_prime_UTR_variant,,ENST00000368638,;LAMA4,intron_variant,,ENST00000521398,;LAMA4,intron_variant,,ENST00000521690,;LAMA4,intron_variant,,ENST00000389463,;LAMA4,intron_variant,,ENST00000519932,;LAMA4,intron_variant,,ENST00000424408,;LAMA4,intron_variant,,ENST00000243219,;LAMA4,intron_variant,,ENST00000522006,;LAMA4,intron_variant,,ENST00000230538,;LAMA4,intron_variant,,ENST00000431543,;LAMA4,downstream_gene_variant,,ENST00000455073,;RP11-506B6.6,intron_variant,,ENST00000590584,;RP11-506B6.6,intron_variant,,ENST00000585450,;RP11-506B6.6,intron_variant,,ENST00000587816,;RP11-506B6.6,intron_variant,,ENST00000588837,;RP11-506B6.6,intron_variant,,ENST00000590293,;RP11-506B6.6,intron_variant,,ENST00000585611,;RP11-506B6.6,intron_variant,,ENST00000590804,;RP11-506B6.6,intron_variant,,ENST00000585504,;RP11-506B6.6,intron_variant,,ENST00000433684,;RP11-506B6.6,intron_variant,,ENST00000590673,;	.	123	150	SUCCESS
SLC17A4	10050	.	GRCh37	6	25769269	25769269	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1178354325	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	26	103	1	ENST00000377905.4:c.148A>G	p.Ile50Val	p.I50V	ENST00000377905	NM_005495.2	50	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4564.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAATTTAC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF25,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000367137	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000377905	Transcript	.	.	ENSG00000146039	10932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.13)	.	S17A4_HUMAN	SLC17A4	HGNC	.	.	UPI0000073585	SNV	SLC17A4,missense_variant,p.Ile50Val,ENST00000377905,;SLC17A4,missense_variant,p.Ile50Val,ENST00000439485,;SLC17A4,5_prime_UTR_variant,,ENST00000397076,;	267	104	113	SUCCESS
ANKS1A	23294	.	GRCh37	6	34857219	34857219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	71	0	ENST00000360359.3:c.40G>T	p.Gly14Trp	p.G14W	ENST00000360359	NM_015245.2	14	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS4798.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCGGGCAC	NONE	.	.	hmmpanther:PTHR24174,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000353518	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000360359	Transcript	.	.	ENSG00000064999	20961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANS1A_HUMAN	ANKS1A	HGNC	.	.	UPI00001C1E4D	SNV	ANKS1A,missense_variant,p.Gly14Trp,ENST00000535627,;ANKS1A,missense_variant,p.Gly14Trp,ENST00000360359,;TAF11,upstream_gene_variant,,ENST00000420584,;TAF11,upstream_gene_variant,,ENST00000361288,;	178	71	69	SUCCESS
ARMC12	221481	.	GRCh37	6	35715163	35715163	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	68	0	ENST00000373866.3:c.570G>T	p.Val190=	p.V190=	ENST00000373866	NM_001286574.1	190	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4809.1	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTGATGCC	NONE	.	.	hmmpanther:PTHR15712:SF20,hmmpanther:PTHR15712,Pfam_domain:PF04826,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000288065	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000288065	Transcript	.	.	ENSG00000157343	21099	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARM12_HUMAN	ARMC12	HGNC	.	.	UPI000006ED6B	SNV	ARMC12,synonymous_variant,p.%3D,ENST00000288065,;ARMC12,synonymous_variant,p.%3D,ENST00000373869,;ARMC12,synonymous_variant,p.%3D,ENST00000373866,;	678	68	82	SUCCESS
FARS2	10667	.	GRCh37	6	5369227	5369227	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145555213	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	553	172	712	0	ENST00000274680.4:c.424G>A	p.Asp142Asn	p.D142N	ENST00000274680	NM_006567.3	142	Gac/Aac	0	A:0	.	.	.	.	A	D/N	protein_coding	YES	CCDS4494.1	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGACAAC	NONE	byCluster	.	Superfamily_domains:SSF55681,Gene3D:3.30.930.10,Pfam_domain:PF01409,hmmpanther:PTHR11538:SF40,hmmpanther:PTHR11538	.	A:0.0001	ENSP00000316335	.	2/7	.	.	.	.	.	.	.	.	rs145555213	2/7	PASS	ENST00000324331	Transcript	.	.	ENSG00000145982	21062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	SYFM_HUMAN	FARS2	HGNC	R4GMX6_HUMAN	.	UPI000006CF04	SNV	FARS2,missense_variant,p.Asp142Asn,ENST00000324331,;FARS2,missense_variant,p.Asp142Asn,ENST00000274680,;FARS2,downstream_gene_variant,,ENST00000602691,;	760	713	725	SUCCESS
SENP6	26054	.	GRCh37	6	76344460	76344460	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	27	78	0	ENST00000447266.2:c.391G>T	p.Val131Leu	p.V131L	ENST00000447266	NM_015571.2	131	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS47454.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGTAGTT	NONE	.	.	hmmpanther:PTHR12438:SF14,hmmpanther:PTHR12438	.	.	ENSP00000402527	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000447266	Transcript	.	.	ENSG00000112701	20944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0.01)	.	SENP6_HUMAN	SENP6	HGNC	H0Y4F4_HUMAN	.	UPI0000141B65	SNV	SENP6,missense_variant,p.Val21Leu,ENST00000424947,;SENP6,missense_variant,p.Val131Leu,ENST00000327284,;SENP6,missense_variant,p.Val131Leu,ENST00000370010,;SENP6,missense_variant,p.Val131Leu,ENST00000370014,;SENP6,missense_variant,p.Val22Leu,ENST00000483859,;SENP6,missense_variant,p.Val131Leu,ENST00000447266,;SENP6,3_prime_UTR_variant,,ENST00000493959,;SENP6,non_coding_transcript_exon_variant,,ENST00000487548,;	869	78	113	SUCCESS
MDN1	23195	.	GRCh37	6	90460121	90460121	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768681660	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	36	113	0	ENST00000369393.3:c.3358A>G	p.Ile1120Val	p.I1120V	ENST00000369393		1120	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5024.1	3358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATGTACT	NONE	byFrequency	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,Pfam_domain:PF07728,Gene3D:3.40.50.300,PIRSF_domain:PIRSF010340,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000358400	.	24/102	.	.	.	.	.	.	.	.	rs768681660	24/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.303)	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Ile1120Val,ENST00000369393,;MDN1,missense_variant,p.Ile1120Val,ENST00000428876,;MDN1,missense_variant,p.Ile1047Val,ENST00000439638,;	3474	113	113	SUCCESS
FSCN1	6624	.	GRCh37	7	5633032	5633032	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	68	188	0	ENST00000382361.3:c.465G>A	p.Leu155=	p.L155=	ENST00000382361	NM_003088.3	155	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5342.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGAGCGC	NONE	.	.	hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF8,Pfam_domain:PF06268,Gene3D:2.80.10.50,PIRSF_domain:PIRSF005682,Superfamily_domains:SSF50405	.	.	ENSP00000371798	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000382361	Transcript	.	.	ENSG00000075618	11148	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSCN1_HUMAN	FSCN1	HGNC	Q96IH1_HUMAN,H7BYX5_HUMAN,C9JPH9_HUMAN,C9JFC0_HUMAN,B3KTM9_HUMAN	.	UPI000003F063	SNV	FSCN1,synonymous_variant,p.%3D,ENST00000382361,;FSCN1,synonymous_variant,p.%3D,ENST00000340250,;FSCN1,upstream_gene_variant,,ENST00000447103,;FSCN1,upstream_gene_variant,,ENST00000444748,;FSCN1,upstream_gene_variant,,ENST00000405801,;	579	188	226	SUCCESS
STAG3L1	54441	.	GRCh37	7	75024513	75024513	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	19	0	ENST00000402225.5:n.1078C>T		p.*360*	ENST00000402225				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34665.1	.	RADIA|VARSCANS	.	GGCGTCGTCCC	NONE	.	390	.	.	.	ENSP00000318615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323819	Transcript	.	.	ENSG00000178809	18162	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI73_HUMAN	TRIM73	HGNC	C9JQH3_HUMAN	.	UPI0000192111	SNV	TRIM73,5_prime_UTR_variant,,ENST00000450434,;TRIM73,upstream_gene_variant,,ENST00000437796,;TRIM73,upstream_gene_variant,,ENST00000447409,;TRIM73,upstream_gene_variant,,ENST00000323819,;TRIM73,upstream_gene_variant,,ENST00000430211,;STAG3L1,non_coding_transcript_exon_variant,,ENST00000402225,;AC006014.8,non_coding_transcript_exon_variant,,ENST00000275590,;TRIM73,non_coding_transcript_exon_variant,,ENST00000463766,;STAG3L1,non_coding_transcript_exon_variant,,ENST00000404291,;AC006014.8,non_coding_transcript_exon_variant,,ENST00000416371,;	.	19	26	SUCCESS
SEMA3C	10512	.	GRCh37	7	80374511	80374511	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	23	117	0	ENST00000265361.3:c.1955A>G	p.Gln652Arg	p.Q652R	ENST00000265361	NM_006379.3	652	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5596.1	1955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTGCTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000265361	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.29)	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,missense_variant,p.Gln652Arg,ENST00000265361,;SEMA3C,missense_variant,p.Gln670Arg,ENST00000544525,;SEMA3C,missense_variant,p.Gln652Arg,ENST00000419255,;	2517	117	111	SUCCESS
SEMA3A	10371	.	GRCh37	7	83610774	83610774	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	32	127	0	ENST00000265362.4:c.1515A>T	p.Ser505=	p.S505=	ENST00000265362	NM_006080.2	505	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5599.1	1515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTTGAACC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1830	127	152	SUCCESS
RIMS2	9699	.	GRCh37	8	104778484	104778484	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	28	121	0	ENST00000406091.3:c.417A>G	p.Lys139=	p.K139=	ENST00000406091	NM_001100117.2	139	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS55269.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAACAACA	NONE	.	.	PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903	.	.	ENSP00000384892	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,synonymous_variant,p.%3D,ENST00000406091,;RIMS2,synonymous_variant,p.%3D,ENST00000504942,;RIMS2,non_coding_transcript_exon_variant,,ENST00000395361,;RP11-771F20.1,upstream_gene_variant,,ENST00000481577,;	417	121	183	SUCCESS
BNIP3L	665	.	GRCh37	8	26265768	26265768	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	131	0	ENST00000380629.2:c.487C>T	p.Arg163Cys	p.R163C	ENST00000380629	NM_004331.2	163	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS6050.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAACGTTCT	NONE	.	.	hmmpanther:PTHR15186:SF3,hmmpanther:PTHR15186,Pfam_domain:PF06553	.	.	ENSP00000370003	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000380629	Transcript	.	.	ENSG00000104765	1085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.05)	.	BNI3L_HUMAN	BNIP3L	HGNC	Q6IBV1_HUMAN,B4DTN1_HUMAN,B0AZS9_HUMAN	.	UPI000004CF4D	SNV	BNIP3L,missense_variant,p.Arg163Cys,ENST00000380629,;BNIP3L,missense_variant,p.Arg141Cys,ENST00000523949,;BNIP3L,missense_variant,p.Arg123Cys,ENST00000518611,;BNIP3L,missense_variant,p.Arg123Cys,ENST00000520409,;BNIP3L,missense_variant,p.Arg123Cys,ENST00000523515,;BNIP3L,non_coding_transcript_exon_variant,,ENST00000521254,;BNIP3L,3_prime_UTR_variant,,ENST00000520077,;	720	131	122	SUCCESS
GOLGA7	51125	.	GRCh37	8	41348232	41348232	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	18	0	ENST00000357743.4:c.-142C>A		p.*48*	ENST00000357743	NM_001002296.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34887.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCGGGGC	NONE	.	.	.	.	.	ENSP00000350378	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000357743	Transcript	.	.	ENSG00000147533	24876	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOGA7_HUMAN	GOLGA7	HGNC	.	.	UPI0000049C28	SNV	GOLGA7,5_prime_UTR_variant,,ENST00000357743,;GOLGA7,intron_variant,,ENST00000518270,;GOLGA7,intron_variant,,ENST00000405786,;GOLGA7,intron_variant,,ENST00000520817,;GOLGA7,intron_variant,,ENST00000523420,;	60	18	22	SUCCESS
FKBP15	23307	.	GRCh37	9	115959216	115959216	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	18	98	0	ENST00000238256.3:c.860G>T	p.Arg287Met	p.R287M	ENST00000238256	NM_015258.1	287	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS48007.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCCTAACC	NONE	.	.	PROSITE_profiles:PS50059,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF178,Gene3D:3.10.50.40,Superfamily_domains:SSF54534	.	.	ENSP00000238256	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000238256	Transcript	.	.	ENSG00000119321	23397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	deleterious(0.01)	.	FKB15_HUMAN	FKBP15	HGNC	B4DZS8_HUMAN	.	UPI000022D996	SNV	FKBP15,missense_variant,p.Arg287Met,ENST00000238256,;FKBP15,missense_variant,p.Arg312Met,ENST00000414250,;FKBP15,missense_variant,p.Arg312Met,ENST00000446284,;	978	98	107	SUCCESS
SNAPC3	6619	.	GRCh37	9	15422852	15422852	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	47	0	ENST00000380821.3:c.-26T>G		p.*9*	ENST00000380821	NM_001039697.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6478.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTTTTGCA	NONE	.	.	.	.	.	ENSP00000370200	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000380821	Transcript	.	.	ENSG00000164975	11136	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNPC3_HUMAN	SNAPC3	HGNC	Q5T284_HUMAN	.	UPI0000135B24	SNV	SNAPC3,5_prime_UTR_variant,,ENST00000380821,;SNAPC3,upstream_gene_variant,,ENST00000421710,;SNAPC3,upstream_gene_variant,,ENST00000461041,;SNAPC3,5_prime_UTR_variant,,ENST00000467062,;SNAPC3,upstream_gene_variant,,ENST00000490969,;	151	47	39	SUCCESS
HAUS6	54801	.	GRCh37	9	19102558	19102558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	53	192	0	ENST00000380502.3:c.92C>T	p.Ala31Val	p.A31V	ENST00000380502	NM_017645.4	31	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6489.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCAATG	NONE	.	.	hmmpanther:PTHR16151,Pfam_domain:PF14661	.	.	ENSP00000369871	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000380502	Transcript	.	.	ENSG00000147874	25948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	tolerated(0.3)	.	HAUS6_HUMAN	HAUS6	HGNC	Q5SYF9_HUMAN	.	UPI00000740C7	SNV	HAUS6,missense_variant,p.Ala31Val,ENST00000380502,;RN7SL158P,downstream_gene_variant,,ENST00000583933,;	560	192	201	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971101	21971101	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	40	129	0	ENST00000304494.5:c.257C>A	p.Ala86Asp	p.A86D	ENST00000304494	NM_000077.4	86	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS56565.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGCAGCG	CODON|p.0?|c.1_471del471|15,BUFFER|p.G89S|c.264_265GG>AA|3,BUFFER|p.E88E|c.264G>A|6,BUFFER|p.E88*|c.262G>T|4,BUFFER|p.E88*|c.262G>T|7,BUFFER|p.E88*|c.262G>T|20,BUFFER|p.G143V|c.428G>T|7,BUFFER|p.E88K|c.262G>A|5,BUFFER|p.D84V|c.251A>T|4,BUFFER|p.R139L|c.416G>T|6,BUFFER|p.R139Q|c.416G>A|4,BUFFER|p.D84N|c.250G>A|4,BUFFER|p.D84Y|c.250G>T|4,BUFFER|p.D84Y|c.250G>T|13,BUFFER|p.D84Y|c.250G>T|6,BUFFER|p.D84N|c.250G>A|7,BUFFER|p.H83R|c.248A>G|3,BUFFER|p.H83Y|c.247C>T|5,BUFFER|p.H83Y|c.247C>T|6,BUFFER|p.A138V|c.413C>T|6,BUFFER|p.H83Y|c.247C>T|39	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	2/4	.	.	.	.	.	.	.	.	COSM12495	2/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,stop_gained,p.Cys100Ter,ENST00000579755,;CDKN2A,stop_gained,p.Cys100Ter,ENST00000530628,;CDKN2A,stop_gained,p.Cys141Ter,ENST00000361570,;CDKN2A,missense_variant,p.Ala35Asp,ENST00000578845,;CDKN2A,missense_variant,p.Ala35Asp,ENST00000494262,;CDKN2A,missense_variant,p.Ala35Asp,ENST00000498628,;CDKN2A,missense_variant,p.Ala86Asp,ENST00000446177,;CDKN2A,missense_variant,p.Ala86Asp,ENST00000304494,;CDKN2A,missense_variant,p.Ala86Asp,ENST00000498124,;CDKN2A,missense_variant,p.Ala35Asp,ENST00000479692,;CDKN2A,missense_variant,p.Ala86Asp,ENST00000579122,;CDKN2A,missense_variant,p.Ala35Asp,ENST00000497750,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	296	129	125	SUCCESS
TMEM8B	51754	.	GRCh37	9	35835214	35835214	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	A	A	G	rs1160288878	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	29	0	ENST00000377988.2:c.-452A>G		p.X151_splice	ENST00000377988	NM_001042590.2	151		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43800.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAAGGTGG	NONE	.	.	.	.	.	ENSP00000367227	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000377988	Transcript	.	.	ENSG00000137103	21427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM8B_HUMAN	TMEM8B	HGNC	.	.	UPI00002113B9	SNV	TMEM8B,splice_region_variant,,ENST00000439587,;TMEM8B,splice_region_variant,,ENST00000377988,;TMEM8B,splice_region_variant,,ENST00000377991,;TMEM8B,intron_variant,,ENST00000377996,;TMEM8B,splice_region_variant,,ENST00000472010,;TMEM8B,intron_variant,,ENST00000490199,;TMEM8B,intron_variant,,ENST00000473947,;TMEM8B,intron_variant,,ENST00000464519,;	837	29	49	SUCCESS
FGD3	89846	.	GRCh37	9	95780428	95780428	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749059480	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	75	0	ENST00000337352.6:c.1286T>A	p.Ile429Asn	p.I429N	ENST00000337352	NM_033086.2	429	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS43849.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATCGTCA	NONE	byFrequency	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000364631	.	11/18	.	.	.	.	.	.	.	.	rs749059480,COSM3908948,COSM3908947	11/18	PASS	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.424)	.	tolerated(0.19)	0,1,1	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,missense_variant,p.Ile429Asn,ENST00000416701,;FGD3,missense_variant,p.Ile32Asn,ENST00000538555,;FGD3,missense_variant,p.Ile429Asn,ENST00000375482,;FGD3,missense_variant,p.Ile429Asn,ENST00000337352,;FGD3,non_coding_transcript_exon_variant,,ENST00000494553,;FGD3,missense_variant,p.Ile429Asn,ENST00000467786,;	1782	75	60	SUCCESS
CXorf57	0	.	GRCh37	X	105879772	105879772	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	36	60	0	ENST00000372548.4:c.1304-1G>T		p.X435_splice	ENST00000372548	NM_018015.5	435		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14519.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTAGTGGCA	NONE	.	.	.	.	.	ENSP00000361628	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372548	Transcript	.	.	ENSG00000147231	25486	.	.	HIGH	6/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX057_HUMAN	CXorf57	HGNC	.	.	UPI000021220A	SNV	CXorf57,splice_acceptor_variant,,ENST00000372548,;CXorf57,splice_acceptor_variant,,ENST00000421550,;CXorf57,splice_acceptor_variant,,ENST00000372544,;MIR548AN,upstream_gene_variant,,ENST00000408286,;CXorf57,upstream_gene_variant,,ENST00000497124,;CXorf57,upstream_gene_variant,,ENST00000478395,;CXorf57,splice_acceptor_variant,,ENST00000461251,;	.	60	69	SUCCESS
PHEX	5251	.	GRCh37	X	22263484	22263484	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1358095108	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	97	0	ENST00000379374.4:c.2105G>A	p.Arg702Gln	p.R702Q	ENST00000379374	NM_000444.4	702	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS14204.1	2105	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGAGAAC	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF117,hmmpanther:PTHR11733	.	.	ENSP00000368682	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000379374	Transcript	.	.	ENSG00000102174	8918	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	PHEX_HUMAN	PHEX	HGNC	D1LZJ7_HUMAN,B4DWG8_HUMAN	.	UPI0000033C42	SNV	PHEX,missense_variant,p.Arg702Gln,ENST00000379374,;PHEX,missense_variant,p.Arg605Gln,ENST00000535894,;PHEX,missense_variant,p.Arg405Gln,ENST00000418858,;PHEX,intron_variant,,ENST00000537599,;	2670	97	96	SUCCESS
KCND1	3750	.	GRCh37	X	48823176	48823176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	25	0	ENST00000218176.3:c.1360G>A	p.Gly454Ser	p.G454S	ENST00000218176	NM_004979.4	454	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS14314.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCCCCAT	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF117,Pfam_domain:PF11879,Prints_domain:PR01516	.	.	ENSP00000218176	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000218176	Transcript	.	.	ENSG00000102057	6237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.72)	.	KCND1_HUMAN	KCND1	HGNC	A6NEF1_HUMAN	.	UPI000000DB05	SNV	KCND1,missense_variant,p.Gly77Ser,ENST00000376477,;KCND1,missense_variant,p.Gly454Ser,ENST00000218176,;KCND1,upstream_gene_variant,,ENST00000419374,;	2658	25	25	SUCCESS
PAGE5	90737	.	GRCh37	X	55247029	55247029	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	57	122	0	ENST00000289619.5:c.-4C>A		p.*2*	ENST00000289619	NM_130467.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14368.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCTGAT	NONE	.	.	.	.	.	ENSP00000289619	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000289619	Transcript	.	.	ENSG00000158639	29992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAGE5_HUMAN	PAGE5	HGNC	.	.	UPI0000071A52	SNV	PAGE5,5_prime_UTR_variant,,ENST00000289619,;PAGE5,intron_variant,,ENST00000374952,;PAGE5,intron_variant,,ENST00000374955,;	242	122	100	SUCCESS
ATP7A	538	.	GRCh37	X	77245380	77245380	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	125	263	0	ENST00000341514.6:c.1262A>G	p.Tyr421Cys	p.Y421C	ENST00000341514	NM_000052.5	421	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS35339.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTATGATC	NONE	.	.	Superfamily_domains:SSF55008,Pfam_domain:PF00403,Gene3D:3.30.70.100,TIGRFAM_domain:TIGR00003,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF211,PROSITE_profiles:PS50846	.	.	ENSP00000345728	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000341514	Transcript	.	.	ENSG00000165240	869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	ATP7A_HUMAN	ATP7A	HGNC	.	.	UPI000013E478	SNV	ATP7A,missense_variant,p.Tyr421Cys,ENST00000343533,;ATP7A,missense_variant,p.Tyr421Cys,ENST00000341514,;ATP7A,intron_variant,,ENST00000350425,;	1417	263	236	SUCCESS
KAL1	0	.	GRCh37	X	8503661	8503661	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	95	173	0	ENST00000262648.3:c.1813A>T	p.Ile605Phe	p.I605F	ENST00000262648	NM_000216.2	605	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS14130.1	1813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAATGCTGT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR14131:SF3,hmmpanther:PTHR14131,PROSITE_profiles:PS50853	.	.	ENSP00000262648	.	12/14	.	.	.	.	.	.	.	.	COSM758242	12/14	PASS	ENST00000262648	Transcript	.	.	ENSG00000011201	6211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.541)	.	deleterious(0.01)	1	KALM_HUMAN	KAL1	HGNC	.	.	UPI00001AE843	SNV	KAL1,missense_variant,p.Ile605Phe,ENST00000262648,;KAL1,non_coding_transcript_exon_variant,,ENST00000481896,;	1963	173	179	SUCCESS
CUBN	8029	.	GRCh37	10	17113430	17113430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	107	0	ENST00000377833.4:c.2620G>A	p.Val874Ile	p.V874I	ENST00000377833	NM_001081.3	874	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS7113.1	2620	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACATAAT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	19/67	.	.	.	.	.	.	.	.	.	19/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.84)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Val874Ile,ENST00000377833,;	2686	107	56	SUCCESS
KIAA1217	56243	.	GRCh37	10	24727389	24727389	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777644018	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	98	0	ENST00000376454.3:c.827C>T	p.Thr276Ile	p.T276I	ENST00000376454	NM_019590.3	276	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS31165.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACTATGA	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	5/21	.	.	.	.	.	.	.	.	rs777644018	5/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.53)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Thr197Ile,ENST00000430453,;KIAA1217,missense_variant,p.Thr276Ile,ENST00000376454,;KIAA1217,missense_variant,p.Thr276Ile,ENST00000376456,;KIAA1217,missense_variant,p.Thr276Ile,ENST00000376452,;KIAA1217,missense_variant,p.Thr276Ile,ENST00000458595,;KIAA1217,missense_variant,p.Thr126Ile,ENST00000438429,;KIAA1217,missense_variant,p.Thr196Ile,ENST00000376462,;	857	98	60	SUCCESS
BMS1	9790	.	GRCh37	10	43292360	43292360	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	133	1	ENST00000374518.5:c.1668C>T	p.Cys556=	p.C556=	ENST00000374518	NM_014753.3	556	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS7199.1	1668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCCAGAG	NONE	.	.	hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858	.	.	ENSP00000363642	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000374518	Transcript	1	.	ENSG00000165733	23505	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMS1_HUMAN	BMS1	HGNC	.	.	UPI0000126A3E	SNV	BMS1,synonymous_variant,p.%3D,ENST00000374518,;	1731	134	74	SUCCESS
GRID1	2894	.	GRCh37	10	87966273	87966273	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762175531	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	85	0	ENST00000327946.7:c.368C>T	p.Ser123Leu	p.S123L	ENST00000327946	NM_017551.2	123	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS31236.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGACCCT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000330148	.	3/16	.	.	.	.	.	.	.	.	rs762175531,COSM231217	3/16	PASS	ENST00000327946	Transcript	.	.	ENSG00000182771	4575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.143)	.	deleterious_low_confidence(0.01)	0,1	GRID1_HUMAN	GRID1	HGNC	B7Z7L0_HUMAN	.	UPI00001D8051	SNV	GRID1,missense_variant,p.Ser123Leu,ENST00000327946,;GRID1,missense_variant,p.Ser123Leu,ENST00000464741,;	454	85	83	SUCCESS
APOA1	335	.	GRCh37	11	116706843	116706843	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs780347391	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	49	0	ENST00000236850.4:c.485A>C	p.Gln162Pro	p.Q162P	ENST00000236850	NM_000039.1	162	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS8378.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTTGCAGC	NONE	.	.	Superfamily_domains:0053393,Pfam_domain:PF01442,Gene3D:1.20.120.20,hmmpanther:PTHR18976:SF11,hmmpanther:PTHR18976	.	.	ENSP00000236850	.	4/4	.	.	.	.	.	.	.	.	rs780347391	4/4	PASS	ENST00000236850	Transcript	.	.	ENSG00000118137	600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	APOA1_HUMAN	APOA1	HGNC	.	.	UPI000002C911	SNV	APOA1,missense_variant,p.Gln140Pro,ENST00000375329,;APOA1,missense_variant,p.Gln162Pro,ENST00000236850,;APOA1,missense_variant,p.Gln162Pro,ENST00000375320,;APOA1,missense_variant,p.Gln162Pro,ENST00000359492,;APOA1,missense_variant,p.Gln162Pro,ENST00000375323,;APOC3,downstream_gene_variant,,ENST00000375345,;APOC3,downstream_gene_variant,,ENST00000227667,;APOA1-AS,non_coding_transcript_exon_variant,,ENST00000444200,;	851	49	37	SUCCESS
MYEOV	26579	.	GRCh37	11	69063143	69063143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	33	62	0	ENST00000308946.3:c.226T>C	p.Ser76Pro	p.S76P	ENST00000308946	NM_138768.2	76	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS8190.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATCCCGG	NONE	.	.	.	.	.	ENSP00000308330	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308946	Transcript	.	.	ENSG00000172927	7563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.27)	.	MYEOV_HUMAN	MYEOV	HGNC	F5H0B3_HUMAN	.	UPI0000039DE8	SNV	MYEOV,missense_variant,p.Ser76Pro,ENST00000308946,;MYEOV,missense_variant,p.Ser18Pro,ENST00000535407,;MYEOV,missense_variant,p.Ser76Pro,ENST00000441339,;MYEOV,non_coding_transcript_exon_variant,,ENST00000539691,;MYEOV,intron_variant,,ENST00000544008,;MYEOV,intron_variant,,ENST00000535597,;MYEOV,downstream_gene_variant,,ENST00000540760,;MYEOV,non_coding_transcript_exon_variant,,ENST00000535653,;MYEOV,upstream_gene_variant,,ENST00000544781,;	676	62	65	SUCCESS
CDKN1B	1027	.	GRCh37	12	12871044	12871044	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	423	209	631	0	ENST00000228872.4:c.275del	p.Pro92ArgfsTer27	p.P92Rfs*27	ENST00000228872	NM_004064.3	91	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS8653.1	271	INDELOCATOR*|VARSCANI*|PINDEL	.	TACAGACCCCCG	NONE	.	.	hmmpanther:PTHR10265:SF9,hmmpanther:PTHR10265,Gene3D:1jsuC00	.	.	ENSP00000228872	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000228872	Transcript	.	.	ENSG00000111276	1785	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDN1B_HUMAN	CDKN1B	HGNC	Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN	.	UPI0000035C92	deletion	CDKN1B,frameshift_variant,p.Pro92ArgfsTer27,ENST00000228872,;CDKN1B,frameshift_variant,p.Pro92ArgfsTer27,ENST00000396340,;CDKN1B,intron_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000477087,;	987	631	632	SUCCESS
TMBIM6	7009	.	GRCh37	12	50153095	50153095	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	66	0	ENST00000267115.5:c.605A>G	p.Asp202Gly	p.D202G	ENST00000267115	NM_003217.2	202	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS44875.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGATTATA	NONE	.	.	hmmpanther:PTHR23291:SF4,hmmpanther:PTHR23291,Pfam_domain:PF01027	.	.	ENSP00000389277	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000423828	Transcript	.	.	ENSG00000139644	11723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	TMBIM6	HGNC	F8W201_HUMAN,F8W1V3_HUMAN,F8W086_HUMAN,F8W034_HUMAN,F8VX73_HUMAN,F8VVJ4_HUMAN,F8VSI7_HUMAN,F8VQW0_HUMAN,F8VQQ5_HUMAN,F8VPZ7_HUMAN,F8VPI1_HUMAN	.	UPI00015367D1	SNV	TMBIM6,missense_variant,p.Asp260Gly,ENST00000423828,;TMBIM6,missense_variant,p.Asp260Gly,ENST00000552699,;TMBIM6,missense_variant,p.Asp202Gly,ENST00000267115,;TMBIM6,missense_variant,p.Asp202Gly,ENST00000395006,;TMBIM6,missense_variant,p.Asp202Gly,ENST00000552370,;TMBIM6,missense_variant,p.Asp165Gly,ENST00000547798,;TMBIM6,missense_variant,p.Asp202Gly,ENST00000549385,;TMBIM6,downstream_gene_variant,,ENST00000549966,;TMBIM6,downstream_gene_variant,,ENST00000546914,;TMBIM6,downstream_gene_variant,,ENST00000547187,;TMBIM6,downstream_gene_variant,,ENST00000550445,;TMBIM6,downstream_gene_variant,,ENST00000549130,;TMBIM6,downstream_gene_variant,,ENST00000548201,;TMBIM6,downstream_gene_variant,,ENST00000546796,;TMBIM6,downstream_gene_variant,,ENST00000547832,;TMBIM6,downstream_gene_variant,,ENST00000549445,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000549471,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000547013,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000550040,;TMBIM6,downstream_gene_variant,,ENST00000553022,;TMBIM6,downstream_gene_variant,,ENST00000552635,;	1107	66	31	SUCCESS
INHBE	83729	.	GRCh37	12	57850023	57850023	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	98	0	ENST00000266646.2:c.445A>G	p.Arg149Gly	p.R149G	ENST00000266646	NM_031479.3	149	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8939.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11848:SF6,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000266646	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000266646	Transcript	.	.	ENSG00000139269	24029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.77)	.	INHBE_HUMAN	INHBE	HGNC	.	.	UPI000012D42C	SNV	INHBE,missense_variant,p.Arg149Gly,ENST00000266646,;INHBE,missense_variant,p.Arg94Gly,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,;GLI1,upstream_gene_variant,,ENST00000546141,;GLI1,upstream_gene_variant,,ENST00000528432,;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000543426,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,non_coding_transcript_exon_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;	661	98	59	SUCCESS
PLEKHG6	55200	.	GRCh37	12	6424240	6424240	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1565455686	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	59	0	ENST00000011684.7:c.364C>T	p.Pro122Ser	p.P122S	ENST00000011684	NM_018173.3	122	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8541.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCCCCT	NONE	.	.	hmmpanther:PTHR22825:SF13,hmmpanther:PTHR22825	.	.	ENSP00000380185	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000396988	Transcript	.	.	ENSG00000008323	25562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	PKHG6_HUMAN	PLEKHG6	HGNC	.	.	UPI000013EFF6	SNV	PLEKHG6,missense_variant,p.Pro122Ser,ENST00000011684,;PLEKHG6,missense_variant,p.Pro122Ser,ENST00000536531,;PLEKHG6,missense_variant,p.Pro122Ser,ENST00000396988,;PLEKHG6,missense_variant,p.Pro90Ser,ENST00000449001,;PLEKHG6,upstream_gene_variant,,ENST00000304581,;PLEKHG6,upstream_gene_variant,,ENST00000544743,;PLEKHG6,upstream_gene_variant,,ENST00000535616,;PLEKHG6,upstream_gene_variant,,ENST00000543000,;PLEKHG6,downstream_gene_variant,,ENST00000538208,;	594	59	40	SUCCESS
CLEC2D	29121	.	GRCh37	12	9833543	9833543	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	67	0	ENST00000290855.6:c.86C>G	p.Ser29Cys	p.S29C	ENST00000290855	NM_013269.5	29	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS31741.1	86	MUTECT|MUSE	.	GCATTCTATTA	NONE	.	.	hmmpanther:PTHR22800:SF20,hmmpanther:PTHR22800	.	.	ENSP00000261340	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000261340	Transcript	.	.	ENSG00000069493	14351	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.035)	.	tolerated(0.06)	.	CLC2D_HUMAN	CLEC2D	HGNC	F5H7V6_HUMAN	.	UPI000003779D	SNV	CLEC2D,missense_variant,p.Ser29Cys,ENST00000543300,;CLEC2D,missense_variant,p.Ser3Cys,ENST00000544322,;CLEC2D,missense_variant,p.Ser29Cys,ENST00000290855,;CLEC2D,missense_variant,p.Ser8Cys,ENST00000430909,;CLEC2D,missense_variant,p.Ser29Cys,ENST00000261340,;CLEC2D,intron_variant,,ENST00000545918,;CLEC2D,intron_variant,,ENST00000261339,;CLEC2D,intron_variant,,ENST00000466035,;CLEC2D,non_coding_transcript_exon_variant,,ENST00000487752,;CLEC2D,missense_variant,p.Ser29Cys,ENST00000444971,;CLEC2D,missense_variant,p.Ser29Cys,ENST00000325960,;CLEC2D,missense_variant,p.Leu50Val,ENST00000492359,;CLEC2D,missense_variant,p.Ser29Cys,ENST00000479877,;CLEC2D,5_prime_UTR_variant,,ENST00000536355,;CLEC2D,5_prime_UTR_variant,,ENST00000476198,;	108	67	23	SUCCESS
RNF219	0	.	GRCh37	13	79191344	79191344	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	26	0	ENST00000282003.6:c.639-87A>G		p.*213*	ENST00000282003	NM_024546.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31997.1	.	MUTECT|MUSE	.	TATTCTAATTT	NONE	.	.	.	.	.	ENSP00000282003	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282003	Transcript	.	.	ENSG00000152193	20308	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN219_HUMAN	RNF219	HGNC	.	.	UPI0000458868	SNV	RNF219,intron_variant,,ENST00000282003,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000560584,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000606429,;RNF219-AS1,downstream_gene_variant,,ENST00000560209,;	.	26	11	SUCCESS
EXOC5	10640	.	GRCh37	14	57686092	57686092	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs370435401	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	42	381	0	ENST00000413566.2:c.1474A>G	p.Ile492Val	p.I492V	ENST00000413566	NM_006544.3	492	Att/Gtt	0	.	C:0	.	C:0	.	C	I/V	protein_coding	YES	CCDS45111.1	1474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATAGTAT	NONE	byCluster|by1000G	.	Pfam_domain:PF07393,hmmpanther:PTHR12100	C:0.001	.	ENSP00000389934	C:0	14/18	.	.	.	.	.	.	.	.	rs370435401	14/18	PASS	ENST00000413566	Transcript	.	C:0.0002	ENSG00000070367	10696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	C:0	tolerated(0.17)	.	EXOC5_HUMAN	EXOC5	HGNC	Q658M3_HUMAN,G3V4Z7_HUMAN	.	UPI0000047E53	SNV	EXOC5,missense_variant,p.Ile492Val,ENST00000413566,;EXOC5,missense_variant,p.Ile427Val,ENST00000340918,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000554011,;	1834	381	123	SUCCESS
KIAA0586	9786	.	GRCh37	14	58955498	58955498	+	synonymous_variant	Silent	SNP	A	A	G	rs773464253	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	143	0	ENST00000354386.6:c.3846A>G	p.Thr1282=	p.T1282=	ENST00000354386	NM_001244189.1	1282	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS58320.1	3846	MUTECT|MUSE	.	AGCACATTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2,Pfam_domain:PF15324	.	.	ENSP00000346359	.	26/34	.	.	.	.	.	.	.	.	rs773464253	26/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	SNV	KIAA0586,synonymous_variant,p.%3D,ENST00000261244,;KIAA0586,synonymous_variant,p.%3D,ENST00000423743,;KIAA0586,synonymous_variant,p.%3D,ENST00000354386,;KIAA0586,synonymous_variant,p.%3D,ENST00000556134,;KIAA0586,upstream_gene_variant,,ENST00000555397,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	4090	143	36	SUCCESS
IFT43	112752	.	GRCh37	14	76488730	76488730	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	39	179	0	ENST00000314067.6:c.208G>T	p.Ala70Ser	p.A70S	ENST00000314067	NM_001102564.1	70	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9847.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGCTTCG	NONE	.	.	Pfam_domain:PF15305	.	.	ENSP00000238628	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000238628	Transcript	.	.	ENSG00000119650	29669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	IFT43_HUMAN	IFT43	HGNC	.	.	UPI000013F70B	SNV	IFT43,missense_variant,p.Ala70Ser,ENST00000314067,;IFT43,missense_variant,p.Ala70Ser,ENST00000556742,;IFT43,missense_variant,p.Ala70Ser,ENST00000238628,;IFT43,non_coding_transcript_exon_variant,,ENST00000553438,;IFT43,non_coding_transcript_exon_variant,,ENST00000553338,;IFT43,missense_variant,p.Ala70Ser,ENST00000542766,;IFT43,3_prime_UTR_variant,,ENST00000555370,;IFT43,non_coding_transcript_exon_variant,,ENST00000555677,;IFT43,non_coding_transcript_exon_variant,,ENST00000554026,;IFT43,non_coding_transcript_exon_variant,,ENST00000555305,;	213	179	53	SUCCESS
HERC2P3	283755	.	GRCh37	15	20657656	20657656	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs371413984	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	28	0	ENST00000428453.1:n.2303C>T		p.*768*	ENST00000428453				0	A:0.0017	A:0.0023	.	A:0	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT	.	CCAGCGTGCCG	NONE	byFrequency|byCluster|by1000G	.	.	A:0.001	A:0	.	A:0	16/27	.	.	.	.	.	.	.	.	rs371413984	16/27	PASS	ENST00000428453	Transcript	.	A:0.0010	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440774,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440441,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;HERC2P3,downstream_gene_variant,,ENST00000544900,;	2303	28	12	SUCCESS
RTF1	23168	.	GRCh37	15	41771302	41771302	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	64	0	ENST00000389629.4:c.1820C>T	p.Ser607Phe	p.S607F	ENST00000389629	NM_015138.4	607	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS32200.2	1820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCCAGAG	NONE	.	.	hmmpanther:PTHR13115,hmmpanther:PTHR13115:SF8	.	.	ENSP00000374280	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000389629	Transcript	.	.	ENSG00000137815	28996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	deleterious(0)	.	RTF1_HUMAN	RTF1	HGNC	I7GPQ7_HUMAN	.	UPI0000E23C14	SNV	RTF1,missense_variant,p.Ser607Phe,ENST00000389629,;RTF1,downstream_gene_variant,,ENST00000560447,;RTF1,splice_region_variant,,ENST00000561076,;RTF1,downstream_gene_variant,,ENST00000473214,;RTF1,downstream_gene_variant,,ENST00000558117,;	1832	64	53	SUCCESS
TYRO3	7301	.	GRCh37	15	41854916	41854916	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	52	0	ENST00000263798.3:c.580G>A	p.Gly194Arg	p.G194R	ENST00000263798	NM_006293.3	194	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10080.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGGTGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000263798	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000263798	Transcript	.	.	ENSG00000092445	12446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TYRO3_HUMAN	TYRO3	HGNC	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN	.	UPI000013788A	SNV	TYRO3,missense_variant,p.Gly194Arg,ENST00000263798,;TYRO3,missense_variant,p.Gly149Arg,ENST00000559066,;TYRO3,upstream_gene_variant,,ENST00000560227,;TYRO3,downstream_gene_variant,,ENST00000560992,;TYRO3,upstream_gene_variant,,ENST00000559815,;	804	52	41	SUCCESS
TLN2	83660	.	GRCh37	15	62999360	62999360	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs761630135	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	87	0	ENST00000306829.6:c.2080C>T	p.Gln694Ter	p.Q694*	ENST00000306829	NM_015059.2	694	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32261.1	2080	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCAAGTG	NONE	.	.	Superfamily_domains:SSF109885,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	19/58	.	.	.	.	.	.	.	.	rs761630135	19/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,stop_gained,p.Gln694Ter,ENST00000561311,;TLN2,stop_gained,p.Gln694Ter,ENST00000306829,;	2310	87	55	SUCCESS
NOX5	79400	.	GRCh37	15	69329420	69329432	+	frameshift_variant	Frame_Shift_Del	DEL	TTCATGGGCCCAA	TTCATGGGCCCAA	-	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	TTCATGGGCCCAA	TTCATGGGCCCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	126	0	ENST00000388866.3:c.1241_1253del	p.Phe414SerfsTer62	p.F414Sfs*62	ENST00000388866	NM_024505.3	414	tTTCATGGGCCCAAc/tc	0	.	.	.	.	.	-	FHGPN/X	protein_coding	YES	CCDS32276.2	1241-1253	VARSCANI*|PINDEL	.	TCATCTTTCATGGGCCCAACTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF36,hmmpanther:PTHR11972	.	.	ENSP00000373518	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000388866	Transcript	.	.	ENSG00000255346	14874	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOX5_HUMAN	NOX5	HGNC	.	.	UPI000006DDBD	deletion	NOX5,frameshift_variant,p.Phe386SerfsTer62,ENST00000530406,;NOX5,frameshift_variant,p.Phe414SerfsTer62,ENST00000388866,;NOX5,frameshift_variant,p.Phe368SerfsTer62,ENST00000448182,;NOX5,frameshift_variant,p.Phe379SerfsTer62,ENST00000455873,;NOX5,frameshift_variant,p.Phe396SerfsTer62,ENST00000260364,;RP11-809H16.4,downstream_gene_variant,,ENST00000559495,;NOX5,frameshift_variant,p.Phe214SerfsTer58,ENST00000525143,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;	1282-1294	126	63	SUCCESS
ARIH1	25820	.	GRCh37	15	72767235	72767235	+	synonymous_variant	Silent	SNP	C	C	T	rs754910711	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	64	0	ENST00000379887.4:c.255C>T	p.Gly85=	p.G85=	ENST00000379887	NM_005744.3	85	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10244.1	255	MUTECT|MUSE|VARSCANS	.	GGCGGCGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF10	.	.	ENSP00000369217	.	1/14	.	.	.	.	.	.	.	.	rs754910711	1/14	PASS	ENST00000379887	Transcript	.	.	ENSG00000166233	689	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1_HUMAN	ARIH1	HGNC	.	.	UPI0000033466	SNV	ARIH1,synonymous_variant,p.%3D,ENST00000379887,;ARIH1,synonymous_variant,p.%3D,ENST00000564062,;RP11-1007O24.3,non_coding_transcript_exon_variant,,ENST00000565181,;RP11-1007O24.3,upstream_gene_variant,,ENST00000562573,;ARIH1,upstream_gene_variant,,ENST00000567762,;ARIH1,synonymous_variant,p.%3D,ENST00000570085,;	569	64	97	SUCCESS
PDXDC1	23042	.	GRCh37	16	15069069	15069069	+	synonymous_variant	Silent	SNP	C	C	T	rs1174672723	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	46	47	0	ENST00000396410.4:c.13C>T	p.Leu5=	p.L5=	ENST00000396410	NM_015027.2	5	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32393.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCCTGGAG	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73	.	.	ENSP00000379691	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000396410	Transcript	.	.	ENSG00000179889	28995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDXD1_HUMAN	PDXDC1	HGNC	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN	.	UPI000004A864	SNV	PDXDC1,synonymous_variant,p.%3D,ENST00000569715,;PDXDC1,synonymous_variant,p.%3D,ENST00000535621,;PDXDC1,synonymous_variant,p.%3D,ENST00000396410,;PDXDC1,synonymous_variant,p.%3D,ENST00000450288,;PDXDC1,synonymous_variant,p.%3D,ENST00000455313,;PDXDC1,5_prime_UTR_variant,,ENST00000566426,;PDXDC1,intron_variant,,ENST00000325823,;PDXDC1,intron_variant,,ENST00000563522,;PDXDC1,intron_variant,,ENST00000447912,;PDXDC1,intron_variant,,ENST00000563679,;PDXDC1,intron_variant,,ENST00000563667,;PDXDC1,upstream_gene_variant,,ENST00000567306,;PDXDC1,synonymous_variant,p.%3D,ENST00000562119,;PDXDC1,synonymous_variant,p.%3D,ENST00000565362,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;	110	47	92	SUCCESS
PDIA2	64714	.	GRCh37	16	336642	336642	+	synonymous_variant	Silent	SNP	T	T	C	rs1198973166	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	87	0	ENST00000219406.6:c.1329T>C	p.Ile443=	p.I443=	ENST00000219406	NM_006849.2	443	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS42089.1	1329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTGCTGA	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF75,Gene3D:3.40.30.10,Pfam_domain:PF00085,TIGRFAM_domain:TIGR01130,Superfamily_domains:SSF52833	.	.	ENSP00000219406	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000219406	Transcript	.	.	ENSG00000185615	14180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIA2_HUMAN	PDIA2	HGNC	B3KWF3_HUMAN	.	UPI0000131481	SNV	PDIA2,synonymous_variant,p.%3D,ENST00000404312,;PDIA2,synonymous_variant,p.%3D,ENST00000219406,;PDIA2,synonymous_variant,p.%3D,ENST00000435833,;AXIN1,downstream_gene_variant,,ENST00000457798,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;ARHGDIG,downstream_gene_variant,,ENST00000219409,;ARHGDIG,downstream_gene_variant,,ENST00000447871,;AXIN1,downstream_gene_variant,,ENST00000262320,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,downstream_gene_variant,,ENST00000456379,;AXIN1,downstream_gene_variant,,ENST00000354866,;PDIA2,downstream_gene_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000482665,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;AXIN1,downstream_gene_variant,,ENST00000461023,;	1347	87	54	SUCCESS
SRL	6345	.	GRCh37	16	4242284	4242284	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs765196291	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	49	133	0	ENST00000399609.3:c.1292T>C	p.Ile431Thr	p.I431T	ENST00000399609	NM_001098814.1	431	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS42113.1	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAATCTTC	NONE	.	.	hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF66	.	.	ENSP00000382518	.	6/6	.	.	.	.	.	.	.	.	rs765196291	6/6	PASS	ENST00000399609	Transcript	.	.	ENSG00000185739	11295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	deleterious(0)	.	SRCA_HUMAN	SRL	HGNC	B4DYT9_HUMAN	.	UPI00006688CC	SNV	SRL,missense_variant,p.Ile431Thr,ENST00000399609,;SRL,missense_variant,p.Ile389Thr,ENST00000537996,;SRL,3_prime_UTR_variant,,ENST00000572111,;	1305	133	98	SUCCESS
CDH15	1013	.	GRCh37	16	89260253	89260253	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773943777	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	36	94	0	ENST00000289746.2:c.2083C>T	p.Arg695Cys	p.R695C	ENST00000289746	NM_004933.2	695	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS10976.1	2083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCGCCTG	NONE	.	.	Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67	.	.	ENSP00000289746	.	13/14	.	.	.	.	.	.	.	.	rs773943777	13/14	PASS	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	tolerated(0.17)	.	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	SNV	CDH15,missense_variant,p.Arg695Cys,ENST00000289746,;SLC22A31,downstream_gene_variant,,ENST00000562855,;SLC22A31,downstream_gene_variant,,ENST00000562916,;SLC22A31,downstream_gene_variant,,ENST00000563595,;	2148	94	74	SUCCESS
USP7	7874	.	GRCh37	16	8992449	8992449	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	59	0	ENST00000344836.4:c.2579C>T	p.Thr860Ile	p.T860I	ENST00000344836	NM_003470.2	860	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS32385.1	2579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAGTACCT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF89,Pfam_domain:PF12436	.	.	ENSP00000343535	.	24/31	.	.	.	.	.	.	.	.	.	24/31	PASS	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	tolerated(0.08)	.	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,missense_variant,p.Thr761Ile,ENST00000563085,;USP7,missense_variant,p.Thr761Ile,ENST00000535863,;USP7,missense_variant,p.Thr860Ile,ENST00000344836,;USP7,missense_variant,p.Thr844Ile,ENST00000381886,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,non_coding_transcript_exon_variant,,ENST00000562615,;USP7,downstream_gene_variant,,ENST00000542333,;USP7,downstream_gene_variant,,ENST00000566131,;USP7,downstream_gene_variant,,ENST00000567692,;USP7,upstream_gene_variant,,ENST00000567113,;USP7,downstream_gene_variant,,ENST00000569448,;USP7,upstream_gene_variant,,ENST00000565883,;USP7,downstream_gene_variant,,ENST00000563043,;USP7,downstream_gene_variant,,ENST00000562051,;USP7,downstream_gene_variant,,ENST00000567329,;USP7,downstream_gene_variant,,ENST00000570256,;	2778	59	27	SUCCESS
DNAH9	1770	.	GRCh37	17	11797765	11797765	+	synonymous_variant	Silent	SNP	C	C	A	rs758918440	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	9	45	0	ENST00000262442.4:c.11358C>A	p.Thr3786=	p.T3786=	ENST00000262442	NM_001372.3	3786	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS11160.1	11358	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGCACCGCCAG	NONE	byFrequency	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000262442	.	59/69	.	.	.	.	.	.	.	.	rs758918440,COSM364415	59/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000608377,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,non_coding_transcript_exon_variant,,ENST00000581682,;	11426	45	13	SUCCESS
MYO18A	399687	.	GRCh37	17	27420010	27420010	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200860055	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	43	0	ENST00000527372.1:c.4936C>T	p.Arg1646Trp	p.R1646W	ENST00000527372	NM_078471.3	1646	Cgg/Tgg	0	A:0	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS45642.1	4936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCCGGT	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293	A:0	A:0.0001	ENSP00000437073	A:0.001	33/42	.	.	.	.	.	.	.	.	rs200860055,COSM1381797,COSM1381796	33/42	PASS	ENST00000527372	Transcript	.	A:0.0004	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.978)	A:0	deleterious(0)	0,1,1	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Arg1646Trp,ENST00000527372,;MYO18A,missense_variant,p.Arg1609Trp,ENST00000533112,;MYO18A,missense_variant,p.Arg1646Trp,ENST00000354329,;MYO18A,missense_variant,p.Arg1646Trp,ENST00000531253,;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000530557,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,downstream_gene_variant,,ENST00000533652,;	5117	43	31	SUCCESS
TMEM132E	124842	.	GRCh37	17	32907872	32907872	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	14	0	ENST00000321639.5:c.-224C>T		p.*75*	ENST00000321639	NM_207313.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11283.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCCGCC	NONE	.	.	.	.	.	ENSP00000316532	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,5_prime_UTR_variant,,ENST00000321639,;C17orf102,upstream_gene_variant,,ENST00000357754,;	105	14	19	SUCCESS
KRT20	54474	.	GRCh37	17	39036387	39036387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	30	64	0	ENST00000167588.3:c.757A>T	p.Asn253Tyr	p.N253Y	ENST00000167588	NM_019010.2	253	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS11379.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTTCTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF149,hmmpanther:PTHR23239	.	.	ENSP00000167588	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000167588	Transcript	.	.	ENSG00000171431	20412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	tolerated(0.05)	.	K1C20_HUMAN	KRT20	HGNC	.	.	UPI000012DAF1	SNV	KRT20,missense_variant,p.Asn253Tyr,ENST00000167588,;KRT20,downstream_gene_variant,,ENST00000482529,;	799	64	48	SUCCESS
MILR1	284021	.	GRCh37	17	62463723	62463723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	64	0	ENST00000605096.1:c.259C>A	p.Leu87Ile	p.L87I	ENST00000605096	NM_001085423.1	87	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	.	259	MUTECT|MUSE	.	CTGAACTCAAC	NONE	.	.	hmmpanther:PTHR11481:SF2,hmmpanther:PTHR11481	.	.	ENSP00000474420	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000605096	Transcript	.	.	ENSG00000271605	27570	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.807)	.	deleterious(0.05)	.	.	MILR1	HGNC	.	.	UPI00033351AB	SNV	MILR1,missense_variant,p.Leu87Ile,ENST00000605096,;MILR1,missense_variant,p.Leu87Ile,ENST00000603557,;	258	64	44	SUCCESS
NAT9	26151	.	GRCh37	17	72767893	72767893	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	55	0	ENST00000357814.3:c.594T>G	p.Pro198=	p.P198=	ENST00000357814	NM_015654.3	198	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS11706.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAAGGCTT	NONE	.	.	hmmpanther:PTHR13256:SF16,hmmpanther:PTHR13256	.	.	ENSP00000350467	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000357814	Transcript	.	.	ENSG00000109065	23133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAT9_HUMAN	NAT9	HGNC	J3QQR6_HUMAN,J3QQJ2_HUMAN	.	UPI000007106D	SNV	NAT9,synonymous_variant,p.%3D,ENST00000582870,;NAT9,synonymous_variant,p.%3D,ENST00000580632,;NAT9,synonymous_variant,p.%3D,ENST00000580301,;NAT9,synonymous_variant,p.%3D,ENST00000357814,;NAT9,synonymous_variant,p.%3D,ENST00000578822,;NAT9,synonymous_variant,p.%3D,ENST00000581136,;NAT9,3_prime_UTR_variant,,ENST00000583757,;NAT9,downstream_gene_variant,,ENST00000578947,;SLC9A3R1,downstream_gene_variant,,ENST00000583369,;SLC9A3R1,downstream_gene_variant,,ENST00000262613,;TMEM104,upstream_gene_variant,,ENST00000335464,;NAT9,downstream_gene_variant,,ENST00000582524,;TMEM104,upstream_gene_variant,,ENST00000578764,;TMEM104,upstream_gene_variant,,ENST00000417024,;TMEM104,upstream_gene_variant,,ENST00000582773,;TMEM104,upstream_gene_variant,,ENST00000582330,;NAT9,downstream_gene_variant,,ENST00000581466,;NAT9,downstream_gene_variant,,ENST00000583476,;NAT9,downstream_gene_variant,,ENST00000579218,;NAT9,downstream_gene_variant,,ENST00000581451,;SLC9A3R1,downstream_gene_variant,,ENST00000413388,;NAT9,downstream_gene_variant,,ENST00000580216,;NAT9,downstream_gene_variant,,ENST00000583989,;NAT9,downstream_gene_variant,,ENST00000585240,;NAT9,downstream_gene_variant,,ENST00000577428,;NAT9,downstream_gene_variant,,ENST00000584409,;NAT9,3_prime_UTR_variant,,ENST00000584022,;NAT9,non_coding_transcript_exon_variant,,ENST00000581762,;NAT9,non_coding_transcript_exon_variant,,ENST00000583834,;TMEM104,upstream_gene_variant,,ENST00000584246,;NAT9,downstream_gene_variant,,ENST00000579837,;SLC9A3R1,downstream_gene_variant,,ENST00000578958,;NAT9,downstream_gene_variant,,ENST00000578862,;NAT9,downstream_gene_variant,,ENST00000582168,;NAT9,downstream_gene_variant,,ENST00000578798,;NAT9,downstream_gene_variant,,ENST00000582359,;NAT9,downstream_gene_variant,,ENST00000582118,;NAT9,downstream_gene_variant,,ENST00000583689,;SLC9A3R1,downstream_gene_variant,,ENST00000581356,;NAT9,downstream_gene_variant,,ENST00000582993,;	668	55	44	SUCCESS
MPDU1	9526	.	GRCh37	17	7490856	7490856	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs764899656	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	24	61	0	ENST00000250124.6:c.731A>C	p.Lys244Thr	p.K244T	ENST00000250124	NM_004870.3	244	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS11115.1	731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAAAAGG	NONE	.	.	hmmpanther:PTHR12226,hmmpanther:PTHR12226:SF2,PIRSF_domain:PIRSF023381	.	.	ENSP00000250124	.	7/7	.	.	.	.	.	.	.	.	rs764899656	7/7	PASS	ENST00000250124	Transcript	.	.	ENSG00000129255	7207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	deleterious(0.03)	.	MPU1_HUMAN	MPDU1	HGNC	J3KTK8_HUMAN	.	UPI000013CCA4	SNV	MPDU1,missense_variant,p.Lys244Thr,ENST00000250124,;MPDU1,3_prime_UTR_variant,,ENST00000396501,;MPDU1,intron_variant,,ENST00000584378,;MPDU1,intron_variant,,ENST00000585217,;MPDU1,intron_variant,,ENST00000423172,;MPDU1,downstream_gene_variant,,ENST00000581380,;MPDU1,downstream_gene_variant,,ENST00000582151,;SOX15,downstream_gene_variant,,ENST00000538513,;SOX15,downstream_gene_variant,,ENST00000250055,;SOX15,downstream_gene_variant,,ENST00000570788,;MPDU1,downstream_gene_variant,,ENST00000579445,;FXR2,downstream_gene_variant,,ENST00000250113,;AC113189.5,upstream_gene_variant,,ENST00000417897,;AC113189.5,upstream_gene_variant,,ENST00000572046,;AC113189.5,upstream_gene_variant,,ENST00000415124,;AC113189.5,upstream_gene_variant,,ENST00000573187,;FXR2,downstream_gene_variant,,ENST00000573057,;MPDU1,3_prime_UTR_variant,,ENST00000571822,;MPDU1,3_prime_UTR_variant,,ENST00000576272,;MPDU1,3_prime_UTR_variant,,ENST00000572719,;MPDU1,3_prime_UTR_variant,,ENST00000359822,;MPDU1,3_prime_UTR_variant,,ENST00000574558,;MPDU1,3_prime_UTR_variant,,ENST00000572936,;MPDU1,3_prime_UTR_variant,,ENST00000570458,;MPDU1,non_coding_transcript_exon_variant,,ENST00000577088,;MPDU1,non_coding_transcript_exon_variant,,ENST00000581886,;MPDU1,non_coding_transcript_exon_variant,,ENST00000571877,;MPDU1,non_coding_transcript_exon_variant,,ENST00000572836,;MPDU1,downstream_gene_variant,,ENST00000576066,;MPDU1,downstream_gene_variant,,ENST00000584479,;MPDU1,downstream_gene_variant,,ENST00000575256,;MPDU1,downstream_gene_variant,,ENST00000580834,;MPDU1,downstream_gene_variant,,ENST00000585188,;MPDU1,downstream_gene_variant,,ENST00000580708,;MPDU1,downstream_gene_variant,,ENST00000578267,;MPDU1,downstream_gene_variant,,ENST00000571391,;	947	61	30	SUCCESS
NPLOC4	55666	.	GRCh37	17	79536080	79536080	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	52	120	0	ENST00000331134.6:c.1411T>G	p.Phe471Val	p.F471V	ENST00000331134	NM_017921.2	471	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS45812.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAATGGAT	NONE	.	.	hmmpanther:PTHR12710,Pfam_domain:PF05021,PIRSF_domain:PIRSF010052	.	.	ENSP00000331487	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000331134	Transcript	.	.	ENSG00000182446	18261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	deleterious(0)	.	NPL4_HUMAN	NPLOC4	HGNC	.	.	UPI0000070BDD	SNV	NPLOC4,missense_variant,p.Phe11Val,ENST00000572824,;NPLOC4,missense_variant,p.Phe471Val,ENST00000374747,;NPLOC4,missense_variant,p.Phe310Val,ENST00000539314,;NPLOC4,missense_variant,p.Phe471Val,ENST00000331134,;NPLOC4,missense_variant,p.Phe39Val,ENST00000571714,;NPLOC4,missense_variant,p.Phe5Val,ENST00000573519,;NPLOC4,upstream_gene_variant,,ENST00000572760,;NPLOC4,upstream_gene_variant,,ENST00000573876,;Y_RNA,upstream_gene_variant,,ENST00000384294,;NPLOC4,upstream_gene_variant,,ENST00000572346,;NPLOC4,upstream_gene_variant,,ENST00000576940,;NPLOC4,missense_variant,p.Phe17Val,ENST00000573212,;NPLOC4,3_prime_UTR_variant,,ENST00000574897,;NPLOC4,non_coding_transcript_exon_variant,,ENST00000576713,;	1627	120	104	SUCCESS
PER1	5187	.	GRCh37	17	8049752	8049752	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	46	0	ENST00000317276.4:c.1976C>T	p.Thr659Ile	p.T659I	ENST00000317276	NM_002616.2	659	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11131.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGTGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	deleterious(0.02)	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	SNV	PER1,missense_variant,p.Thr659Ile,ENST00000317276,;PER1,missense_variant,p.Thr639Ile,ENST00000581082,;PER1,missense_variant,p.Thr643Ile,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,upstream_gene_variant,,ENST00000583559,;PER1,downstream_gene_variant,,ENST00000577253,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,non_coding_transcript_exon_variant,,ENST00000578089,;PER1,missense_variant,p.Thr659Ile,ENST00000582719,;PER1,3_prime_UTR_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000585284,;PER1,upstream_gene_variant,,ENST00000579098,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,downstream_gene_variant,,ENST00000578223,;	2214	46	23	SUCCESS
CDH2	1000	.	GRCh37	18	25593865	25593865	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	49	0	ENST00000269141.3:c.181A>T	p.Ser61Cys	p.S61C	ENST00000269141	NM_001792.3	61	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS11891.1	181	RADIA|MUTECT|MUSE	.	GTTGCTAAACT	NONE	.	.	hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Pfam_domain:PF08758,Gene3D:2.60.40.60,SMART_domains:SM01055,Superfamily_domains:SSF49313	.	.	ENSP00000269141	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000269141	Transcript	.	.	ENSG00000170558	1759	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.643)	.	deleterious(0.03)	.	CADH2_HUMAN	CDH2	HGNC	C9JMH2_HUMAN,C9J126_HUMAN	.	UPI000013D7FD	SNV	CDH2,missense_variant,p.Ser10Cys,ENST00000418492,;CDH2,missense_variant,p.Ser30Cys,ENST00000399380,;CDH2,missense_variant,p.Ser61Cys,ENST00000269141,;CDH2,5_prime_UTR_variant,,ENST00000413878,;CDH2,5_prime_UTR_variant,,ENST00000430882,;	605	49	11	SUCCESS
SMAD7	4092	.	GRCh37	18	46448265	46448265	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	28	0	ENST00000262158.2:c.758T>C	p.Leu253Pro	p.L253P	ENST00000262158	NM_001190821.1	253	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11936.1	758	RADIA|SOMATICSNIPER|VARSCANS	.	GCTCCAGAAGA	NONE	.	.	hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Superfamily_domains:SSF49879	.	.	ENSP00000262158	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262158	Transcript	.	.	ENSG00000101665	6773	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.177)	.	tolerated(0.72)	.	SMAD7_HUMAN	SMAD7	HGNC	K7EKF0_HUMAN	.	UPI0000135A83	SNV	SMAD7,missense_variant,p.Leu38Pro,ENST00000591805,;SMAD7,missense_variant,p.Leu38Pro,ENST00000586093,;SMAD7,missense_variant,p.Leu253Pro,ENST00000262158,;SMAD7,missense_variant,p.Leu252Pro,ENST00000589634,;SMAD7,non_coding_transcript_exon_variant,,ENST00000585986,;SMAD7,non_coding_transcript_exon_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,;	1045	28	21	SUCCESS
EPB41L3	23136	.	GRCh37	18	5396258	5396258	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs79592897	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	101	0	ENST00000341928.2:c.2915C>G	p.Thr972Arg	p.T972R	ENST00000341928	NM_012307.3	972	aCg/aGg	0	A:0.0009	A:0	.	A:0	.	C	T/R	protein_coding	YES	CCDS11838.1	2915	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCGTGGAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF05902,PIRSF_domain:PIRSF002304	A:0.0188	A:0.0001	ENSP00000343158	A:0	19/23	.	.	.	.	.	.	.	.	rs79592897	19/23	PASS	ENST00000341928	Transcript	.	A:0.0038	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.797)	A:0	deleterious(0.04)	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Thr972Arg,ENST00000342933,;EPB41L3,missense_variant,p.Thr972Arg,ENST00000341928,;EPB41L3,missense_variant,p.Thr269Arg,ENST00000427684,;EPB41L3,missense_variant,p.Thr750Arg,ENST00000400111,;EPB41L3,missense_variant,p.Thr26Arg,ENST00000579951,;EPB41L3,missense_variant,p.Thr803Arg,ENST00000544123,;EPB41L3,missense_variant,p.Thr277Arg,ENST00000542146,;EPB41L3,missense_variant,p.Thr750Arg,ENST00000540638,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578524,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,downstream_gene_variant,,ENST00000582729,;EPB41L3,downstream_gene_variant,,ENST00000578196,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,downstream_gene_variant,,ENST00000581292,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;	3256	101	37	SUCCESS
CDH7	1005	.	GRCh37	18	63477233	63477233	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	101	0	ENST00000323011.3:c.504G>A		p.X168_splice	ENST00000323011	NM_033646.1	168	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11993.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTGGGTAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381058	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,synonymous_variant,p.%3D,ENST00000397968,;CDH7,synonymous_variant,p.%3D,ENST00000536984,;CDH7,synonymous_variant,p.%3D,ENST00000323011,;	930	101	66	SUCCESS
CBLN2	147381	.	GRCh37	18	70205486	70205486	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	104	0	ENST00000269503.4:c.600C>G	p.Leu200=	p.L200=	ENST00000269503	NM_182511.3	200	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11999.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTGAGATG	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF50,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000269503	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269503	Transcript	.	.	ENSG00000141668	1544	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLN2_HUMAN	CBLN2	HGNC	.	.	UPI0000032E73	SNV	CBLN2,synonymous_variant,p.%3D,ENST00000584764,;CBLN2,synonymous_variant,p.%3D,ENST00000585159,;CBLN2,synonymous_variant,p.%3D,ENST00000269503,;CBLN2,synonymous_variant,p.%3D,ENST00000581073,;CBLN2,non_coding_transcript_exon_variant,,ENST00000583651,;CBLN2,non_coding_transcript_exon_variant,,ENST00000581425,;	1374	104	66	SUCCESS
TMED1	11018	.	GRCh37	19	10945612	10945612	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	58	0	ENST00000214869.2:c.463A>C	p.Lys155Gln	p.K155Q	ENST00000214869	NM_006858.3	155	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS12249.1	463	RADIA|MUTECT|MUSE	.	CACCTTGATGT	NONE	.	.	hmmpanther:PTHR22811:SF40,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000214869	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000214869	Transcript	.	.	ENSG00000099203	17291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	tolerated(0.29)	.	TMED1_HUMAN	TMED1	HGNC	K7EIN4_HUMAN	.	UPI00000722CE	SNV	TMED1,missense_variant,p.Lys137Gln,ENST00000589638,;TMED1,missense_variant,p.Lys10Gln,ENST00000588289,;TMED1,missense_variant,p.Lys155Gln,ENST00000214869,;TMED1,missense_variant,p.Lys24Gln,ENST00000586835,;TMED1,intron_variant,,ENST00000591695,;DNM2,downstream_gene_variant,,ENST00000359692,;DNM2,downstream_gene_variant,,ENST00000585892,;DNM2,downstream_gene_variant,,ENST00000591818,;C19orf38,upstream_gene_variant,,ENST00000592854,;DNM2,downstream_gene_variant,,ENST00000389253,;DNM2,downstream_gene_variant,,ENST00000355667,;DNM2,downstream_gene_variant,,ENST00000314646,;DNM2,downstream_gene_variant,,ENST00000589106,;DNM2,downstream_gene_variant,,ENST00000408974,;TMED1,splice_region_variant,,ENST00000591157,;TMED1,splice_region_variant,,ENST00000588259,;DNM2,downstream_gene_variant,,ENST00000593203,;DNM2,downstream_gene_variant,,ENST00000590806,;	562	58	38	SUCCESS
TMED1	11018	.	GRCh37	19	10945625	10945625	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	57	0	ENST00000214869.2:c.450A>C	p.Lys150Asn	p.K150N	ENST00000214869	NM_006858.3	150	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS12249.1	450	RADIA|MUTECT|MUSE	.	TCCATTTTAAC	NONE	.	.	hmmpanther:PTHR22811:SF40,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000214869	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000214869	Transcript	.	.	ENSG00000099203	17291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.411)	.	deleterious(0)	.	TMED1_HUMAN	TMED1	HGNC	K7EIN4_HUMAN	.	UPI00000722CE	SNV	TMED1,missense_variant,p.Lys132Asn,ENST00000589638,;TMED1,missense_variant,p.Lys5Asn,ENST00000588289,;TMED1,missense_variant,p.Lys150Asn,ENST00000214869,;TMED1,missense_variant,p.Lys19Asn,ENST00000586835,;TMED1,intron_variant,,ENST00000591695,;DNM2,downstream_gene_variant,,ENST00000359692,;DNM2,downstream_gene_variant,,ENST00000585892,;DNM2,downstream_gene_variant,,ENST00000591818,;C19orf38,upstream_gene_variant,,ENST00000592854,;DNM2,downstream_gene_variant,,ENST00000389253,;DNM2,downstream_gene_variant,,ENST00000355667,;DNM2,downstream_gene_variant,,ENST00000314646,;DNM2,downstream_gene_variant,,ENST00000589106,;DNM2,downstream_gene_variant,,ENST00000408974,;TMED1,3_prime_UTR_variant,,ENST00000591157,;TMED1,3_prime_UTR_variant,,ENST00000588259,;DNM2,downstream_gene_variant,,ENST00000593203,;DNM2,downstream_gene_variant,,ENST00000590806,;	549	57	37	SUCCESS
CIRBP	1153	.	GRCh37	19	1271585	1271585	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	58	0	ENST00000320936.5:c.385G>A	p.Glu129Lys	p.E129K	ENST00000320936	NM_001280.2	129	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12059.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCGAGTCC	NONE	.	.	hmmpanther:PTHR24012:SF269,hmmpanther:PTHR24012	.	.	ENSP00000468788	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000588030	Transcript	.	.	ENSG00000099622	1982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.11)	.	CIRBP_HUMAN	CIRBP	HGNC	Q53XX5_HUMAN,K7EQX4_HUMAN,K7EMY9_HUMAN,K7ELV6_HUMAN,K7EJV5_HUMAN	.	UPI00001279F8	SNV	CIRBP,missense_variant,p.Glu129Lys,ENST00000589660,;CIRBP,missense_variant,p.Glu129Lys,ENST00000586773,;CIRBP,missense_variant,p.Glu129Lys,ENST00000591935,;CIRBP,missense_variant,p.Glu129Lys,ENST00000586548,;CIRBP,missense_variant,p.Glu129Lys,ENST00000588230,;CIRBP,missense_variant,p.Glu129Lys,ENST00000589710,;CIRBP,missense_variant,p.Glu76Lys,ENST00000444172,;CIRBP,missense_variant,p.Glu129Lys,ENST00000320936,;CIRBP,missense_variant,p.Glu129Lys,ENST00000589235,;CIRBP,missense_variant,p.Glu129Lys,ENST00000587323,;CIRBP,missense_variant,p.Glu129Lys,ENST00000587896,;CIRBP,missense_variant,p.Glu129Lys,ENST00000589686,;CIRBP,missense_variant,p.Glu129Lys,ENST00000585630,;CIRBP,missense_variant,p.Glu95Lys,ENST00000413636,;CIRBP,missense_variant,p.Glu129Lys,ENST00000588090,;CIRBP,missense_variant,p.Glu129Lys,ENST00000586472,;CIRBP,missense_variant,p.Glu129Lys,ENST00000588030,;CIRBP,synonymous_variant,p.%3D,ENST00000591659,;CIRBP,intron_variant,,ENST00000589266,;CIRBP,downstream_gene_variant,,ENST00000588344,;CIRBP,downstream_gene_variant,,ENST00000592815,;C19orf24,upstream_gene_variant,,ENST00000409293,;C19orf24,upstream_gene_variant,,ENST00000469144,;CIRBP,downstream_gene_variant,,ENST00000592051,;CIRBP,downstream_gene_variant,,ENST00000588411,;CIRBP-AS1,upstream_gene_variant,,ENST00000585832,;CIRBP-AS1,upstream_gene_variant,,ENST00000600215,;CIRBP,upstream_gene_variant,,ENST00000590188,;C19orf24,upstream_gene_variant,,ENST00000590269,;CIRBP,missense_variant,p.Arg122Gln,ENST00000591055,;CIRBP,missense_variant,p.Arg122Gln,ENST00000590347,;CIRBP,missense_variant,p.Glu129Lys,ENST00000585914,;CIRBP,missense_variant,p.Glu129Lys,ENST00000586636,;CIRBP,missense_variant,p.Glu14Lys,ENST00000592234,;CIRBP,missense_variant,p.Glu129Lys,ENST00000585913,;CIRBP,3_prime_UTR_variant,,ENST00000593048,;CIRBP,3_prime_UTR_variant,,ENST00000590171,;CIRBP,3_prime_UTR_variant,,ENST00000591376,;CIRBP,3_prime_UTR_variant,,ENST00000587169,;CIRBP,3_prime_UTR_variant,,ENST00000591097,;CIRBP,3_prime_UTR_variant,,ENST00000592412,;CIRBP,non_coding_transcript_exon_variant,,ENST00000587812,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593093,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593128,;CIRBP,non_coding_transcript_exon_variant,,ENST00000590704,;CIRBP,downstream_gene_variant,,ENST00000593283,;C19orf24,upstream_gene_variant,,ENST00000485191,;CIRBP,upstream_gene_variant,,ENST00000588917,;CIRBP,upstream_gene_variant,,ENST00000586555,;	645	58	52	SUCCESS
REEP6	92840	.	GRCh37	19	1495318	1495341	+	inframe_deletion	In_Frame_Del	DEL	TCTGCTGTTCGGCTACGGAGCGTC	TCTGCTGTTCGGCTACGGAGCGTC	-	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	TCTGCTGTTCGGCTACGGAGCGTC	TCTGCTGTTCGGCTACGGAGCGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	42	0	ENST00000233596.3:c.149_172del	p.Phe50_Leu57del	p.F50_L57del	ENST00000233596	NM_138393.1	47	taTCTGCTGTTCGGCTACGGAGCGTCt/tat	0	.	.	.	.	.	-	YLLFGYGAS/Y	protein_coding	YES	CCDS12070.1	141-164	INDELOCATOR|VARSCANI	.	CCTGTATCTGCTGTTCGGCTACGGAGCGTCTCTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12300:SF30,hmmpanther:PTHR12300,Pfam_domain:PF03134	.	.	ENSP00000233596	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000233596	Transcript	.	.	ENSG00000115255	30078	8	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REEP6_HUMAN	REEP6	HGNC	.	.	UPI00000702E3	deletion	REEP6,inframe_deletion,p.Phe50_Leu57del,ENST00000233596,;PCSK4,upstream_gene_variant,,ENST00000588671,;PCSK4,upstream_gene_variant,,ENST00000300954,;REEP6,upstream_gene_variant,,ENST00000395479,;PCSK4,upstream_gene_variant,,ENST00000590057,;PCSK4,upstream_gene_variant,,ENST00000587784,;PCSK4,upstream_gene_variant,,ENST00000591687,;REEP6,non_coding_transcript_exon_variant,,ENST00000591735,;PCSK4,upstream_gene_variant,,ENST00000591201,;PCSK4,upstream_gene_variant,,ENST00000586616,;PCSK4,upstream_gene_variant,,ENST00000588195,;PCSK4,upstream_gene_variant,,ENST00000441747,;REEP6,upstream_gene_variant,,ENST00000395484,;	245-268	42	27	SUCCESS
SLC5A5	6528	.	GRCh37	19	18001706	18001706	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754164167	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	57	0	ENST00000222248.3:c.1663C>T	p.Arg555Cys	p.R555C	ENST00000222248	NM_000453.2	555	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS12368.1	1663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCGCAGC	NONE	.	.	hmmpanther:PTHR11819:SF18,hmmpanther:PTHR11819	.	.	ENSP00000222248	.	14/15	.	.	.	.	.	.	.	.	rs754164167	14/15	PASS	ENST00000222248	Transcript	1	.	ENSG00000105641	11040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	SC5A5_HUMAN	SLC5A5	HGNC	Q9UEU3_HUMAN	.	UPI00001359F6	SNV	SLC5A5,missense_variant,p.Arg555Cys,ENST00000222248,;SLC5A5,downstream_gene_variant,,ENST00000597109,;	2010	57	46	SUCCESS
NDUFA13	51079	.	GRCh37	19	19626671	19626671	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	58	0	ENST00000507754.4:c.-377T>C		p.*126*	ENST00000507754				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12404.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCGTAGAGT	NONE	.	.	.	.	.	ENSP00000423673	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000507754	Transcript	1	.	ENSG00000186010	17194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUAD_HUMAN	NDUFA13	HGNC	.	.	UPI00001699BB	SNV	NDUFA13,5_prime_UTR_variant,,ENST00000507754,;TSSK6,5_prime_UTR_variant,,ENST00000360913,;NDUFA13,upstream_gene_variant,,ENST00000428459,;NDUFA13,upstream_gene_variant,,ENST00000512771,;NDUFA13,upstream_gene_variant,,ENST00000252576,;NDUFA13,upstream_gene_variant,,ENST00000503283,;CTC-260F20.3,upstream_gene_variant,,ENST00000555938,;TSSK6,upstream_gene_variant,,ENST00000585580,;YJEFN3,upstream_gene_variant,,ENST00000608404,;CTC-260F20.3,upstream_gene_variant,,ENST00000586674,;NDUFA13,5_prime_UTR_variant,,ENST00000502506,;NDUFA13,upstream_gene_variant,,ENST00000511584,;NDUFA13,upstream_gene_variant,,ENST00000511180,;TSSK6,upstream_gene_variant,,ENST00000602623,;NDUFA13,upstream_gene_variant,,ENST00000606722,;TSSK6,upstream_gene_variant,,ENST00000587522,;	108	58	59	SUCCESS
FFAR2	2867	.	GRCh37	19	35940857	35940857	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs539042139	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	36	0	ENST00000246549.2:c.241G>T	p.Val81Phe	p.V81F	ENST00000246549	NM_005306.2	81	Gtc/Ttc	0	.	A:0	.	A:0	.	T	V/F	protein_coding	YES	CCDS12461.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGTCTGC	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,Prints_domain:PR01904,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF8,PROSITE_profiles:PS50262	A:0	.	ENSP00000473159	A:0	2/2	.	.	.	.	.	.	.	.	rs539042139	2/2	PASS	ENST00000599180	Transcript	.	A:0.0002	ENSG00000126262	4501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	A:0.001	deleterious(0.04)	.	FFAR2_HUMAN	FFAR2	HGNC	C6KYL4_HUMAN	.	UPI0000050459	SNV	FFAR2,missense_variant,p.Val81Phe,ENST00000246549,;FFAR2,missense_variant,p.Val81Phe,ENST00000599180,;FFAR2,intron_variant,,ENST00000601590,;	321	36	51	SUCCESS
FCGBP	8857	.	GRCh37	19	40368825	40368825	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	19	137	0	ENST00000221347.6:c.12523T>A	p.Ser4175Thr	p.S4175T	ENST00000221347	NM_003890.2	4175	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS12546.1	12523	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGAAATCC	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.418)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Ser4175Thr,ENST00000221347,;	12531	137	162	SUCCESS
NAPA	8775	.	GRCh37	19	47995285	47995285	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs149012477	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	48	0	ENST00000263354.3:c.653T>G	p.Met218Arg	p.M218R	ENST00000263354	NM_003827.3	218	aTg/aGg	0	G:0	.	.	.	.	C	M/R	protein_coding	YES	CCDS12702.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCATGTCG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,Pfam_domain:PF14938,hmmpanther:PTHR13768,hmmpanther:PTHR13768:SF11	.	G:0.0002	ENSP00000263354	.	8/11	.	.	.	.	.	.	.	.	rs149012477	8/11	PASS	ENST00000263354	Transcript	.	.	ENSG00000105402	7641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.36)	.	SNAA_HUMAN	NAPA	HGNC	M0R213_HUMAN,M0R058_HUMAN,M0R027_HUMAN	.	UPI00000012C7	SNV	NAPA,missense_variant,p.Met179Arg,ENST00000595227,;NAPA,missense_variant,p.Met112Arg,ENST00000594155,;NAPA,missense_variant,p.Met228Arg,ENST00000593761,;NAPA,missense_variant,p.Met218Arg,ENST00000263354,;NAPA,downstream_gene_variant,,ENST00000598615,;NAPA,downstream_gene_variant,,ENST00000597118,;NAPA-AS1,intron_variant,,ENST00000594367,;NAPA-AS1,intron_variant,,ENST00000593284,;NAPA,downstream_gene_variant,,ENST00000597160,;NAPA,downstream_gene_variant,,ENST00000596892,;NAPA,downstream_gene_variant,,ENST00000595826,;NAPA,downstream_gene_variant,,ENST00000593785,;NAPA,missense_variant,p.Met6Arg,ENST00000594217,;NAPA,3_prime_UTR_variant,,ENST00000594001,;NAPA,3_prime_UTR_variant,,ENST00000601208,;NAPA,non_coding_transcript_exon_variant,,ENST00000597778,;NAPA,non_coding_transcript_exon_variant,,ENST00000593905,;NAPA,downstream_gene_variant,,ENST00000594288,;NAPA,downstream_gene_variant,,ENST00000601927,;NAPA,downstream_gene_variant,,ENST00000597274,;NAPA,downstream_gene_variant,,ENST00000602174,;NAPA,upstream_gene_variant,,ENST00000597271,;NAPA,downstream_gene_variant,,ENST00000602082,;NAPA,downstream_gene_variant,,ENST00000594740,;	953	48	43	SUCCESS
TPRX1	284355	.	GRCh37	19	48305638	48305638	+	synonymous_variant	Silent	SNP	T	T	C	rs780352488	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	51	0	ENST00000322175.3:c.630A>G	p.Pro210=	p.P210=	ENST00000322175	NM_198479.2	210	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS33066.1	630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATTGGGCC	SITE|p.P210P|c.630A>G|3,CODON|p.P208_I211delPGPI|c.618_629del12|4,BUFFER|p.P208S|c.622C>T|9	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF18	.	.	ENSP00000323455	.	2/2	.	.	.	.	.	.	.	.	rs780352488,COSM998810	2/2	PASS	ENST00000322175	Transcript	.	.	ENSG00000178928	32174	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TPRX1_HUMAN	TPRX1	HGNC	.	.	UPI0000198666	SNV	TPRX1,synonymous_variant,p.%3D,ENST00000543508,;TPRX1,synonymous_variant,p.%3D,ENST00000322175,;TPRX1,synonymous_variant,p.%3D,ENST00000535759,;	786	51	64	SUCCESS
IZUMO1	284359	.	GRCh37	19	49244664	49244664	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	50	0	ENST00000332955.2:c.826T>C	p.Ser276Pro	p.S276P	ENST00000332955	NM_182575.2	276	Tcg/Ccg	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS12732.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGACTCCG	NONE	.	.	.	.	.	ENSP00000327786	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000332955	Transcript	.	.	ENSG00000182264	28539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.31)	.	IZUM1_HUMAN	IZUMO1	HGNC	.	.	UPI00001609C7	SNV	IZUMO1,missense_variant,p.Ser276Pro,ENST00000332955,;RASIP1,upstream_gene_variant,,ENST00000599291,;IZUMO1,downstream_gene_variant,,ENST00000602105,;RASIP1,upstream_gene_variant,,ENST00000222145,;RASIP1,upstream_gene_variant,,ENST00000594232,;IZUMO1,3_prime_UTR_variant,,ENST00000595937,;IZUMO1,3_prime_UTR_variant,,ENST00000595517,;IZUMO1,non_coding_transcript_exon_variant,,ENST00000599871,;IZUMO1,downstream_gene_variant,,ENST00000597553,;	1374	50	31	SUCCESS
GYS1	2997	.	GRCh37	19	49484845	49484845	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs933420343	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	65	0	ENST00000323798.3:c.1111C>T	p.Arg371Trp	p.R371W	ENST00000323798	NM_002103.4	371	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12747.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGCGCTG	NONE	.	.	hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF2,Pfam_domain:PF05693	.	.	ENSP00000317904	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000323798	Transcript	1	.	ENSG00000104812	4706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GYS1_HUMAN	GYS1	HGNC	F5H1N8_HUMAN	.	UPI0000000C44	SNV	GYS1,missense_variant,p.Arg4Trp,ENST00000544287,;GYS1,missense_variant,p.Arg307Trp,ENST00000263276,;GYS1,missense_variant,p.Arg371Trp,ENST00000323798,;GYS1,missense_variant,p.Arg291Trp,ENST00000541188,;GYS1,3_prime_UTR_variant,,ENST00000540532,;GYS1,non_coding_transcript_exon_variant,,ENST00000484289,;GYS1,upstream_gene_variant,,ENST00000496048,;GYS1,upstream_gene_variant,,ENST00000472004,;	1308	65	57	SUCCESS
VSIG10L	147645	.	GRCh37	19	51844521	51844521	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	42	0	ENST00000335624.4:c.781C>A	p.Arg261=	p.R261=	ENST00000335624	NM_001163922.1	261	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54300.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGGGCCT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF565,Gene3D:2.60.40.10,SMART_domains:SM00409	.	.	ENSP00000335623	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000335624	Transcript	.	.	ENSG00000186806	27111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VS10L_HUMAN	VSIG10L	HGNC	.	.	UPI00001D8188	SNV	VSIG10L,synonymous_variant,p.%3D,ENST00000335624,;ETFB,downstream_gene_variant,,ENST00000354232,;ETFB,downstream_gene_variant,,ENST00000596253,;ETFB,downstream_gene_variant,,ENST00000309244,;CTD-2616J11.16,intron_variant,,ENST00000601148,;CTD-2616J11.16,intron_variant,,ENST00000594311,;CTD-2616J11.9,upstream_gene_variant,,ENST00000600974,;ETFB,downstream_gene_variant,,ENST00000594361,;VSIG10L,upstream_gene_variant,,ENST00000600663,;	781	42	64	SUCCESS
SIGLEC6	946	.	GRCh37	19	52034164	52034164	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	28	0	ENST00000425629.3:c.477C>T	p.Gly159=	p.G159=	ENST00000425629	NM_001245.5	159	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12834.3	477	MUTECT|MUSE	.	GGATGGCCAGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41,PROSITE_profiles:PS50835	.	.	ENSP00000401502	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,synonymous_variant,p.%3D,ENST00000436458,;SIGLEC6,synonymous_variant,p.%3D,ENST00000391797,;SIGLEC6,synonymous_variant,p.%3D,ENST00000359982,;SIGLEC6,synonymous_variant,p.%3D,ENST00000425629,;SIGLEC6,synonymous_variant,p.%3D,ENST00000343300,;SIGLEC6,synonymous_variant,p.%3D,ENST00000346477,;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;	632	28	23	SUCCESS
NLRP7	199713	.	GRCh37	19	55452329	55452329	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752841539	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	51	0	ENST00000340844.2:c.322G>A	p.Ala108Thr	p.A108T	ENST00000340844	NM_206828.3	108	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46183.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCATCTC	NONE	.	.	hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106	.	.	ENSP00000467123	.	5/13	.	.	.	.	.	.	.	.	rs752841539	5/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.67)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Ala108Thr,ENST00000590030,;NLRP7,missense_variant,p.Ala136Thr,ENST00000446217,;NLRP7,missense_variant,p.Ala108Thr,ENST00000588756,;NLRP7,missense_variant,p.Ala108Thr,ENST00000448121,;NLRP7,missense_variant,p.Ala108Thr,ENST00000328092,;NLRP7,missense_variant,p.Ala108Thr,ENST00000592784,;NLRP7,missense_variant,p.Ala108Thr,ENST00000340844,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Ala108Thr,ENST00000586379,;	809	51	32	SUCCESS
COL11A1	1301	.	GRCh37	1	103405915	103405915	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	224	0	ENST00000370096.3:c.3352C>A	p.Pro1118Thr	p.P1118T	ENST00000370096	NM_001854.3	1118	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS778.1	3352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGACCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	43/67	.	.	.	.	.	.	.	.	COSM1730714,COSM1730715	43/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	.	1,1	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Pro1002Thr,ENST00000512756,;COL11A1,missense_variant,p.Pro1079Thr,ENST00000353414,;COL11A1,missense_variant,p.Pro1118Thr,ENST00000370096,;COL11A1,missense_variant,p.Pro1130Thr,ENST00000358392,;	3665	225	88	SUCCESS
KCNA3	3738	.	GRCh37	1	111216298	111216298	+	synonymous_variant	Silent	SNP	C	C	T	rs764449826	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	61	0	ENST00000369769.2:c.1134G>A	p.Ser378=	p.S378=	ENST00000369769	NM_002232.3	378	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS828.2	1134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGCGACAG	BUFFER|p.R379H|c.1136G>A|3	.	.	hmmpanther:PTHR11537:SF28,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000358784	.	1/1	.	.	.	.	.	.	.	.	rs764449826	1/1	PASS	ENST00000369769	Transcript	.	.	ENSG00000177272	6221	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA3_HUMAN	KCNA3	HGNC	Q6P2D3_HUMAN,B2RA23_HUMAN	.	UPI000013FB79	SNV	KCNA3,synonymous_variant,p.%3D,ENST00000369769,;	1358	61	67	SUCCESS
KCND3	3752	.	GRCh37	1	112525100	112525100	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	91	0	ENST00000315987.2:c.249C>A	p.Phe83Leu	p.F83L	ENST00000315987	NM_004980.4	83	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS843.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAAGAAGTA	NONE	.	.	hmmpanther:PTHR11537:SF17,hmmpanther:PTHR11537,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000319591	.	2/8	.	.	.	.	.	.	.	.	COSM893897,COSM1583222	2/8	PASS	ENST00000315987	Transcript	.	.	ENSG00000171385	6239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.026)	.	deleterious(0)	1,1	KCND3_HUMAN	KCND3	HGNC	.	.	UPI000003050A	SNV	KCND3,missense_variant,p.Phe83Leu,ENST00000369697,;KCND3,missense_variant,p.Phe83Leu,ENST00000302127,;KCND3,missense_variant,p.Phe83Leu,ENST00000315987,;	729	91	88	SUCCESS
PHTF1	10745	.	GRCh37	1	114249252	114249253	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	128	57	335	0	ENST00000369604.1:c.1361dup	p.Met454IlefsTer46	p.M454Ifs*46	ENST00000369604		454	atg/atTg	0	.	.	.	.	.	A	M/IX	protein_coding	YES	CCDS861.1	1361-1362	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGACATATC	NONE	.	.	hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF8	.	.	ENSP00000358617	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000369604	Transcript	.	.	ENSG00000116793	8939	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHTF1_HUMAN	PHTF1	HGNC	F6T5D1_HUMAN	.	UPI000013C9D0	insertion	PHTF1,frameshift_variant,p.Met210IlefsTer46,ENST00000412670,;PHTF1,frameshift_variant,p.Met454IlefsTer46,ENST00000357783,;PHTF1,frameshift_variant,p.Met401IlefsTer46,ENST00000369596,;PHTF1,frameshift_variant,p.Met401IlefsTer46,ENST00000369600,;PHTF1,frameshift_variant,p.Met454IlefsTer46,ENST00000369604,;PHTF1,frameshift_variant,p.Met454IlefsTer46,ENST00000393357,;PHTF1,frameshift_variant,p.Met409IlefsTer46,ENST00000369598,;PHTF1,3_prime_UTR_variant,,ENST00000447664,;PHTF1,non_coding_transcript_exon_variant,,ENST00000474926,;PHTF1,upstream_gene_variant,,ENST00000481652,;	1845-1846	335	185	SUCCESS
ADAM30	11085	.	GRCh37	1	120438632	120438632	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	35	119	0	ENST00000369400.1:c.328T>G	p.Cys110Gly	p.C110G	ENST00000369400	NM_021794.3	110	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS907.1	328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCAGTCCT	NONE	.	.	hmmpanther:PTHR11905:SF31,hmmpanther:PTHR11905,Pfam_domain:PF01562	.	.	ENSP00000358407	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369400	Transcript	.	.	ENSG00000134249	208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA30_HUMAN	ADAM30	HGNC	.	.	UPI000004C638	SNV	ADAM30,missense_variant,p.Cys110Gly,ENST00000369400,;	487	119	61	SUCCESS
ADAM30	11085	.	GRCh37	1	120439002	120439002	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	55	0	ENST00000369400.1:c.-43G>A		p.*15*	ENST00000369400	NM_021794.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS907.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAACTC	NONE	.	.	.	.	.	ENSP00000358407	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369400	Transcript	.	.	ENSG00000134249	208	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA30_HUMAN	ADAM30	HGNC	.	.	UPI000004C638	SNV	ADAM30,5_prime_UTR_variant,,ENST00000369400,;	117	55	44	SUCCESS
FLG	2312	.	GRCh37	1	152282404	152282404	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	127	0	ENST00000368799.1:c.4958C>T	p.Ser1653Leu	p.S1653L	ENST00000368799	NM_002016.1	1653	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS30860.1	4958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTGATTGT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser1653Leu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	4994	127	83	SUCCESS
SPRR1B	6699	.	GRCh37	1	153004880	153004880	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs201420448	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	121	0	ENST00000307098.4:c.59A>C	p.Gln20Pro	p.Q20P	ENST00000307098	NM_003125.2	20	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS30863.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGGTGA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF49,hmmpanther:PTHR23263,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000306461	.	2/2	.	.	.	.	.	.	.	.	rs201420448	2/2	PASS	ENST00000307098	Transcript	.	.	ENSG00000169469	11260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,missense_variant,p.Gln20Pro,ENST00000307098,;SPRR1B,missense_variant,p.Gln20Pro,ENST00000392661,;	124	122	73	SUCCESS
CHTOP	26097	.	GRCh37	1	153616037	153616037	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	29	0	ENST00000368694.3:c.541+197A>T		p.*181*	ENST00000368694	NM_001206612.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1048.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AATCAAGTGCA	NONE	.	.	.	.	.	ENSP00000357683	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368694	Transcript	.	.	ENSG00000160679	24511	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHTOP_HUMAN	CHTOP	HGNC	.	.	UPI00000467F6	SNV	CHTOP,3_prime_UTR_variant,,ENST00000368686,;CHTOP,intron_variant,,ENST00000403433,;CHTOP,intron_variant,,ENST00000368690,;CHTOP,intron_variant,,ENST00000368687,;CHTOP,intron_variant,,ENST00000368694,;CHTOP,intron_variant,,ENST00000495554,;	.	29	13	SUCCESS
TPM3	7170	.	GRCh37	1	154144902	154144902	+	intron_variant	Intron	SNP	A	A	T	rs554164738	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	188	2	ENST00000368530.2:c.566+482T>A		p.*189*	ENST00000368530	NM_152263.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS41403.1	.	RADIA|VARSCANS	.	TTTTTAAATTT	NONE	byFrequency|by1000G	.	.	T:0.004	.	ENSP00000357516	T:0	.	.	.	.	.	.	.	.	.	rs554164738	.	PASS	ENST00000368530	Transcript	.	T:0.0016	ENSG00000143549	12012	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.0041	.	.	TPM3_HUMAN	TPM3	HGNC	Q5VU62_HUMAN,D6RGJ6_HUMAN	.	UPI000013D90D	SNV	TPM3,intron_variant,,ENST00000328159,;TPM3,intron_variant,,ENST00000323144,;TPM3,intron_variant,,ENST00000341372,;TPM3,intron_variant,,ENST00000368531,;TPM3,intron_variant,,ENST00000302206,;TPM3,intron_variant,,ENST00000271850,;TPM3,intron_variant,,ENST00000341485,;TPM3,intron_variant,,ENST00000330188,;TPM3,intron_variant,,ENST00000368533,;TPM3,intron_variant,,ENST00000368530,;TPM3,non_coding_transcript_exon_variant,,ENST00000469717,;TPM3,intron_variant,,ENST00000312970,;TPM3,intron_variant,,ENST00000368527,;TPM3,non_coding_transcript_exon_variant,,ENST00000368545,;TPM3,intron_variant,,ENST00000509601,;TPM3,intron_variant,,ENST00000505010,;TPM3,intron_variant,,ENST00000509409,;TPM3,downstream_gene_variant,,ENST00000473036,;TPM3,upstream_gene_variant,,ENST00000504663,;TPM3,upstream_gene_variant,,ENST00000513769,;	.	190	92	SUCCESS
SLAMF1	6504	.	GRCh37	1	160604639	160604639	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	114	0	ENST00000302035.6:c.464A>C	p.Asn155Thr	p.N155T	ENST00000302035	NM_003037.2	155	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS1207.1	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGTTCTCC	NONE	.	.	Superfamily_domains:SSF48726,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000306190	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.03)	.	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,missense_variant,p.Asn155Thr,ENST00000538290,;SLAMF1,missense_variant,p.Asn155Thr,ENST00000235739,;SLAMF1,missense_variant,p.Asn155Thr,ENST00000355199,;SLAMF1,missense_variant,p.Asn155Thr,ENST00000302035,;SLAMF1,downstream_gene_variant,,ENST00000494463,;	814	114	81	SUCCESS
ZBTB41	360023	.	GRCh37	1	197157558	197157558	+	synonymous_variant	Silent	SNP	T	T	C	rs1159840025	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	46	0	ENST00000367405.4:c.1410A>G	p.Lys470=	p.K470=	ENST00000367405	NM_194314.2	470	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS30960.1	1410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATTTCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF161,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000356375	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000367405	Transcript	.	.	ENSG00000177888	24819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT41_HUMAN	ZBTB41	HGNC	Q8N9U5_HUMAN	.	UPI00001D7DE7	SNV	ZBTB41,synonymous_variant,p.%3D,ENST00000367405,;ZBTB41,non_coding_transcript_exon_variant,,ENST00000467322,;	1479	46	28	SUCCESS
OBSCN	84033	.	GRCh37	1	228462303	228462303	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781560949	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	65	0	ENST00000422127.1:c.5714T>A	p.Leu1905Gln	p.L1905Q	ENST00000422127	NM_001098623.2	1905	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS59204.1	6839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGAGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	24/116	.	.	.	.	.	.	.	.	rs781560949	24/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Leu1905Gln,ENST00000284548,;OBSCN,missense_variant,p.Leu752Gln,ENST00000359599,;OBSCN,missense_variant,p.Leu2280Gln,ENST00000570156,;OBSCN,missense_variant,p.Leu1905Gln,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602529,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602947,;	6913	66	56	SUCCESS
EPHA8	2046	.	GRCh37	1	22922617	22922617	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	196	0	ENST00000166244.3:c.1716G>A	p.Lys572=	p.K572=	ENST00000166244	NM_020526.3	572	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS225.1	1716	MUTECT|MUSE	.	AGCAAGGCCTT	NONE	.	.	PIRSF_domain:PIRSF000666,Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274	.	.	ENSP00000166244	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,synonymous_variant,p.%3D,ENST00000166244,;	1788	196	107	SUCCESS
NUP133	55746	.	GRCh37	1	229625781	229625781	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	153	0	ENST00000261396.3:c.1115T>A	p.Leu372Gln	p.L372Q	ENST00000261396	NM_018230.2	372	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1579.1	1115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCAGAGAG	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Leu356Gln,ENST00000537506,;NUP133,missense_variant,p.Leu372Gln,ENST00000261396,;	1207	153	70	SUCCESS
KIF26B	55083	.	GRCh37	1	245851704	245851704	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1320589019	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	16	0	ENST00000407071.2:c.5419C>T	p.Arg1807Cys	p.R1807C	ENST00000407071	NM_018012.3	1807	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS44342.1	5419	MUTECT|MUSE	.	GCGGGCGCATC	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Arg1807Cys,ENST00000407071,;KIF26B,missense_variant,p.Arg1426Cys,ENST00000366518,;KIF26B,downstream_gene_variant,,ENST00000483253,;	5859	16	32	SUCCESS
C1orf168	0	.	GRCh37	1	57206372	57206372	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	103	0	ENST00000343433.6:c.1701A>G		p.X567_splice	ENST00000343433	NM_001004303.4	567	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS30729.1	1701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTAAGTT	NONE	.	.	hmmpanther:PTHR16830	.	.	ENSP00000345972	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000343433	Transcript	.	.	ENSG00000187889	27295	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA168_HUMAN	C1orf168	HGNC	.	.	UPI000022AE5B	SNV	C1orf168,synonymous_variant,p.%3D,ENST00000343433,;C1orf168,splice_region_variant,,ENST00000493000,;C1orf168,splice_region_variant,,ENST00000484327,;C1orf168,upstream_gene_variant,,ENST00000371240,;	1782	103	47	SUCCESS
DEFB129	140881	.	GRCh37	20	210326	210326	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	58	0	ENST00000246105.4:c.466G>A	p.Ala156Thr	p.A156T	ENST00000246105	NM_080831.3	156	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12992.1	466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGCCACT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000246105	.	2/2	.	.	.	.	.	.	.	.	COSM1326882	2/2	PASS	ENST00000246105	Transcript	.	.	ENSG00000125903	16218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.483)	.	deleterious(0.02)	1	DB129_HUMAN	DEFB129	HGNC	.	.	UPI0000042232	SNV	DEFB129,missense_variant,p.Ala156Thr,ENST00000246105,;	497	58	25	SUCCESS
SRC	6714	.	GRCh37	20	36031218	36031218	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	73	0	ENST00000358208.4:c.1337C>A	p.Ser446Ter	p.S446*	ENST00000358208		446	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS13294.1	1337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTCGGACG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000362680	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000373578	Transcript	.	.	ENSG00000197122	11283	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRC_HUMAN	SRC	HGNC	Q9H7V3_HUMAN,Q71UK5_HUMAN	.	UPI0000000CB3	SNV	SRC,stop_gained,p.Ser446Ter,ENST00000358208,;SRC,stop_gained,p.Ser452Ter,ENST00000373558,;SRC,stop_gained,p.Ser446Ter,ENST00000373567,;SRC,stop_gained,p.Ser446Ter,ENST00000373578,;SRC,stop_gained,p.Ser446Ter,ENST00000445403,;SRC,stop_gained,p.Ser452Ter,ENST00000360723,;SRC,non_coding_transcript_exon_variant,,ENST00000493775,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,downstream_gene_variant,,ENST00000477475,;SRC,downstream_gene_variant,,ENST00000467556,;	1686	73	60	SUCCESS
SLC32A1	140679	.	GRCh37	20	37357190	37357190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	117	0	ENST00000217420.1:c.1486A>G	p.Ile496Val	p.I496V	ENST00000217420	NM_080552.2	496	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13307.1	1486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCATCTTC	BUFFER|p.V494I|c.1480G>A|3,BUFFER|p.A495T|c.1483G>A|4	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF221,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000217420	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000217420	Transcript	.	.	ENSG00000101438	11018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.669)	.	tolerated(0.53)	.	VIAAT_HUMAN	SLC32A1	HGNC	.	.	UPI0000043423	SNV	SLC32A1,missense_variant,p.Ile496Val,ENST00000217420,;	1749	117	94	SUCCESS
GCNT7	140687	.	GRCh37	20	55066629	55066629	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs755340714	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	124	0	ENST00000243913.4:c.911T>A	p.Met304Lys	p.M304K	ENST00000243913	NM_080615.1	304	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	.	911	RADIA|MUTECT|MUSE	.	GTCTCATATTG	NONE	byFrequency	.	hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF72	.	.	ENSP00000243913	.	7/7	.	.	.	.	.	.	.	.	rs755340714	7/7	PASS	ENST00000243913	Transcript	.	.	ENSG00000124091	16099	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.7)	.	GCNT7_HUMAN	GCNT7	HGNC	F2Z6J8_HUMAN	.	UPI0000E5A355	SNV	GCNT7,missense_variant,p.Met304Lys,ENST00000243913,;RTFDC1,intron_variant,,ENST00000357348,;RTFDC1,intron_variant,,ENST00000395881,;RTFDC1,intron_variant,,ENST00000449062,;RTFDC1,intron_variant,,ENST00000023939,;	1983	124	74	SUCCESS
CABIN1	23523	.	GRCh37	22	24455754	24455754	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	83	0	ENST00000263119.5:c.1327G>T	p.Ala443Ser	p.A443S	ENST00000263119	NM_012295.3	443	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS13823.1	1327	MUTECT|MUSE	.	CAGAAGCCAAA	NONE	.	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	11/37	.	.	.	.	.	.	.	.	.	11/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.582)	.	tolerated(0.37)	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.Ala443Ser,ENST00000398319,;CABIN1,missense_variant,p.Ala393Ser,ENST00000405822,;CABIN1,missense_variant,p.Ala443Ser,ENST00000263119,;CABIN1,downstream_gene_variant,,ENST00000445422,;CABIN1,downstream_gene_variant,,ENST00000454754,;CABIN1,downstream_gene_variant,,ENST00000474981,;	1712	83	53	SUCCESS
GGT1	2678	.	GRCh37	22	25024660	25024660	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	78	0	ENST00000248923.4:c.1564G>A	p.Ala522Thr	p.A522T	ENST00000248923	NM_013430.2	522	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS42992.1	1564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCAGTG	NONE	.	.	hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF1,TIGRFAM_domain:TIGR00066,Pfam_domain:PF01019,Superfamily_domains:SSF56235	.	.	ENSP00000383232	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000400382	Transcript	.	.	ENSG00000100031	4250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.53)	.	GGT1_HUMAN	GGT1	HGNC	Q9UEN9_HUMAN,Q9UEN8_HUMAN,Q6NZY2_HUMAN,O76033_HUMAN,O75693_HUMAN,E9PHP2_HUMAN,E7EVF8_HUMAN,E7ETU4_HUMAN,E7ETR7_HUMAN,E7ETN1_HUMAN,E7ETJ6_HUMAN,E7ET76_HUMAN,E7ESL5_HUMAN,E7ERN9_HUMAN,E7ENJ5_HUMAN,E7EM62_HUMAN,C9JIY6_HUMAN,C9JGF3_HUMAN	.	UPI000007080C	SNV	GGT1,missense_variant,p.Ala178Thr,ENST00000404532,;GGT1,missense_variant,p.Ala171Thr,ENST00000404920,;GGT1,missense_variant,p.Ala178Thr,ENST00000403838,;GGT1,missense_variant,p.Ala522Thr,ENST00000400380,;GGT1,missense_variant,p.Ala205Thr,ENST00000404223,;GGT1,missense_variant,p.Ala522Thr,ENST00000406383,;GGT1,missense_variant,p.Ala522Thr,ENST00000400383,;GGT1,missense_variant,p.Ala178Thr,ENST00000401885,;GGT1,missense_variant,p.Ala522Thr,ENST00000248923,;GGT1,missense_variant,p.Ala522Thr,ENST00000400382,;GGT1,downstream_gene_variant,,ENST00000412658,;GGT1,splice_region_variant,,ENST00000490087,;GGT1,splice_region_variant,,ENST00000466310,;GGT1,splice_region_variant,,ENST00000425895,;BCRP3,upstream_gene_variant,,ENST00000447261,;	2319	78	44	SUCCESS
PRR14L	253143	.	GRCh37	22	32109471	32109471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	89	0	ENST00000327423.6:c.4354C>A	p.Leu1452Met	p.L1452M	ENST00000327423	NM_173566.2	1452	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS13900.2	4354	MUTECT|MUSE	.	GGCCAGCTTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0	.	.	ENSP00000331845	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000327423	Transcript	.	.	ENSG00000183530	28738	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.082)	.	tolerated(0.22)	.	PR14L_HUMAN	PRR14L	HGNC	C9J9V0_HUMAN	.	UPI0000207582	SNV	PRR14L,missense_variant,p.Leu1452Met,ENST00000434485,;PRR14L,missense_variant,p.Leu1452Met,ENST00000397493,;PRR14L,missense_variant,p.Leu1452Met,ENST00000327423,;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,missense_variant,p.Leu121Met,ENST00000431684,;	4544	89	52	SUCCESS
TST	7263	.	GRCh37	22	37407302	37407302	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	87	0	ENST00000249042.3:c.660T>C	p.Asp220=	p.D220=	ENST00000249042	NM_003312.5	220	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS13938.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCATCCTC	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR11364,hmmpanther:PTHR11364:SF6,Pfam_domain:PF00581,Gene3D:3.40.250.10,SMART_domains:SM00450,Superfamily_domains:SSF52821	.	.	ENSP00000385828	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000403892	Transcript	.	.	ENSG00000128311	12388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THTR_HUMAN	TST	HGNC	B1AH48_HUMAN	.	UPI0000167B82	SNV	TST,synonymous_variant,p.%3D,ENST00000249042,;TST,synonymous_variant,p.%3D,ENST00000403892,;TEX33,upstream_gene_variant,,ENST00000402860,;TEX33,upstream_gene_variant,,ENST00000405091,;TEX33,upstream_gene_variant,,ENST00000381821,;Y_RNA,upstream_gene_variant,,ENST00000516603,;	1395	87	88	SUCCESS
TRIOBP	11078	.	GRCh37	22	38120691	38120691	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	52	149	0	ENST00000406386.3:c.2128T>G	p.Ser710Ala	p.S710A	ENST00000406386	NM_001039141.2	710	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS43015.1	2128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCTCCT	NONE	.	.	.	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	COSM1616439	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.097)	.	deleterious_low_confidence(0)	1	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Ser710Ala,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	2383	149	131	SUCCESS
MICALL1	85377	.	GRCh37	22	38302534	38302534	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	20	0	ENST00000215957.6:c.105G>T	p.Leu35=	p.L35=	ENST00000215957	NM_033386.3	35	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13961.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGGCCTT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000215957	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,synonymous_variant,p.%3D,ENST00000215957,;MICALL1,intron_variant,,ENST00000445494,;MICALL1,upstream_gene_variant,,ENST00000489812,;	231	20	29	SUCCESS
RANGAP1	5905	.	GRCh37	22	41654107	41654107	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	63	0	ENST00000356244.3:c.619A>G	p.Ile207Val	p.I207V	ENST00000356244	NM_002883.3	207	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14012.1	619	MUTECT|MUSE	.	CCCGATGACCT	NONE	.	.	hmmpanther:PTHR24113:SF5,hmmpanther:PTHR24113,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000401470	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000455915	Transcript	.	.	ENSG00000100401	9854	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.09)	.	RAGP1_HUMAN	RANGAP1	HGNC	Q9BSK3_HUMAN,Q8WUS7_HUMAN,B4E0U0_HUMAN,B0QYT6_HUMAN,B0QYT5_HUMAN,B0QYT4_HUMAN	.	UPI0000000DD9	SNV	RANGAP1,missense_variant,p.Ile207Val,ENST00000455915,;RANGAP1,missense_variant,p.Ile207Val,ENST00000356244,;RANGAP1,missense_variant,p.Ile207Val,ENST00000405486,;RANGAP1,missense_variant,p.Ile152Val,ENST00000407260,;RANGAP1,missense_variant,p.Ile103Val,ENST00000446258,;	2089	63	64	SUCCESS
AMER3	205147	.	GRCh37	2	131522066	131522066	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	63	0	ENST00000321420.4:c.2421C>A	p.Gly807=	p.G807=	ENST00000321420		807	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2164.1	2421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCACCA	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,synonymous_variant,p.%3D,ENST00000321420,;AMER3,synonymous_variant,p.%3D,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	2531	63	85	SUCCESS
FN1	2335	.	GRCh37	2	216270958	216270958	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	56	0	ENST00000359671.1:c.2986+3A>G		p.X996_splice	ENST00000359671		996		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42814.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATACTGG	NONE	.	.	.	.	.	ENSP00000346839	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	LOW	19/45	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,splice_region_variant,,ENST00000357867,;FN1,splice_region_variant,,ENST00000432072,;FN1,splice_region_variant,,ENST00000421182,;FN1,splice_region_variant,,ENST00000443816,;FN1,splice_region_variant,,ENST00000346544,;FN1,splice_region_variant,,ENST00000345488,;FN1,splice_region_variant,,ENST00000354785,;FN1,splice_region_variant,,ENST00000336916,;FN1,splice_region_variant,,ENST00000359671,;FN1,splice_region_variant,,ENST00000357009,;FN1,splice_region_variant,,ENST00000446046,;FN1,splice_region_variant,,ENST00000323926,;FN1,splice_region_variant,,ENST00000356005,;FN1,downstream_gene_variant,,ENST00000471193,;	.	56	31	SUCCESS
MFF	56947	.	GRCh37	2	228197291	228197291	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	245	0	ENST00000353339.3:c.416C>T	p.Pro139Leu	p.P139L	ENST00000353339	NM_001277061.1	139	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2465.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCTCAAA	NONE	.	.	hmmpanther:PTHR16501,Pfam_domain:PF05644	.	.	ENSP00000302037	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000353339	Transcript	.	.	ENSG00000168958	24858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	tolerated(0.2)	.	MFF_HUMAN	MFF	HGNC	E9PPR7_HUMAN,E9PK16_HUMAN,C9JU19_HUMAN,C9JI76_HUMAN,C9JHF5_HUMAN,C9JAF1_HUMAN,C9J846_HUMAN	.	UPI0000072C36	SNV	MFF,missense_variant,p.Pro113Leu,ENST00000409565,;MFF,missense_variant,p.Pro113Leu,ENST00000354503,;MFF,missense_variant,p.Pro113Leu,ENST00000349901,;MFF,missense_variant,p.Pro139Leu,ENST00000353339,;MFF,missense_variant,p.Pro139Leu,ENST00000392059,;MFF,missense_variant,p.Pro113Leu,ENST00000409616,;MFF,missense_variant,p.Pro113Leu,ENST00000304593,;MFF,missense_variant,p.Pro113Leu,ENST00000452930,;MFF,missense_variant,p.Pro113Leu,ENST00000337110,;MFF,5_prime_UTR_variant,,ENST00000530359,;MFF,5_prime_UTR_variant,,ENST00000531278,;MFF,5_prime_UTR_variant,,ENST00000534203,;MFF,5_prime_UTR_variant,,ENST00000524634,;MFF,downstream_gene_variant,,ENST00000418961,;MFF,downstream_gene_variant,,ENST00000443428,;MFF,downstream_gene_variant,,ENST00000423098,;MFF,downstream_gene_variant,,ENST00000525195,;MFF,downstream_gene_variant,,ENST00000436237,;MFF,non_coding_transcript_exon_variant,,ENST00000476924,;MFF,non_coding_transcript_exon_variant,,ENST00000436791,;MFF,non_coding_transcript_exon_variant,,ENST00000470090,;MFF,non_coding_transcript_exon_variant,,ENST00000460756,;MFF,downstream_gene_variant,,ENST00000489696,;	857	245	123	SUCCESS
COL6A3	1293	.	GRCh37	2	238280319	238280319	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	53	0	ENST00000295550.4:c.4285+56A>T		p.*1429*	ENST00000295550	NM_004369.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33412.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCTGTTAT	NONE	.	.	.	.	.	ENSP00000295550	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODIFIER	9/43	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,3_prime_UTR_variant,,ENST00000392003,;COL6A3,3_prime_UTR_variant,,ENST00000392004,;COL6A3,intron_variant,,ENST00000472056,;COL6A3,intron_variant,,ENST00000409809,;COL6A3,intron_variant,,ENST00000295550,;COL6A3,intron_variant,,ENST00000347401,;COL6A3,intron_variant,,ENST00000346358,;COL6A3,intron_variant,,ENST00000353578,;	.	53	18	SUCCESS
ZNF512	84450	.	GRCh37	2	27822456	27822456	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	186	0	ENST00000355467.4:c.284G>T	p.Gly95Val	p.G95V	ENST00000355467	NM_001271289.1	95	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1758.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGTGGAG	NONE	.	.	hmmpanther:PTHR22979:SF2,hmmpanther:PTHR22979	.	.	ENSP00000347648	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000355467	Transcript	.	.	ENSG00000243943	29380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.404)	.	tolerated_low_confidence(0.09)	.	ZN512_HUMAN	ZNF512	HGNC	Q658M0_HUMAN	.	UPI0000141030	SNV	ZNF512,missense_variant,p.Gly95Val,ENST00000355467,;ZNF512,missense_variant,p.Gly94Val,ENST00000379717,;ZNF512,missense_variant,p.Gly94Val,ENST00000416005,;ZNF512,missense_variant,p.Gly18Val,ENST00000413371,;ZNF512,missense_variant,p.Val6Leu,ENST00000556601,;RP11-158I13.2,non_coding_transcript_exon_variant,,ENST00000505973,;ZNF512,non_coding_transcript_exon_variant,,ENST00000494548,;ZNF512,downstream_gene_variant,,ENST00000461705,;	367	186	84	SUCCESS
HAAO	23498	.	GRCh37	2	43015676	43015676	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	46	0	ENST00000294973.6:c.152G>A	p.Gly51Asp	p.G51D	ENST00000294973	NM_012205.2	51	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33187.1	152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACCCTCT	NONE	.	.	HAMAP:MF_00825,hmmpanther:PTHR15497,TIGRFAM_domain:TIGR03037,Gene3D:2.60.120.10,Pfam_domain:PF06052,PIRSF_domain:PIRSF017681,Superfamily_domains:SSF51182	.	.	ENSP00000294973	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000294973	Transcript	.	.	ENSG00000162882	4796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	3HAO_HUMAN	HAAO	HGNC	C9IY88_HUMAN	.	UPI000007068E	SNV	HAAO,missense_variant,p.Gly17Asp,ENST00000431905,;HAAO,missense_variant,p.Gly51Asp,ENST00000294973,;HAAO,non_coding_transcript_exon_variant,,ENST00000402268,;HAAO,non_coding_transcript_exon_variant,,ENST00000406924,;HAAO,non_coding_transcript_exon_variant,,ENST00000402698,;HAAO,non_coding_transcript_exon_variant,,ENST00000404451,;	208	46	50	SUCCESS
ABCG8	64241	.	GRCh37	2	44102319	44102319	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	46	0	ENST00000272286.2:c.1523T>G	p.Ile508Ser	p.I508S	ENST00000272286	NM_022437.2	508	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS1815.1	1523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACATCATCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19241,Pfam_domain:PF01061	.	.	ENSP00000272286	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000272286	Transcript	.	.	ENSG00000143921	13887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.23)	.	ABCG8_HUMAN	ABCG8	HGNC	Q96A01_HUMAN	.	UPI000004C4CD	SNV	ABCG8,missense_variant,p.Ile508Ser,ENST00000272286,;	1613	46	35	SUCCESS
IGKV1-17	28937	.	GRCh37	2	89416930	89416930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	91	1	ENST00000490686.1:c.254G>T	p.Ser85Ile	p.S85I	ENST00000490686		85	aGc/aTc	0	.	.	.	.	.	A	S/I	IG_V_gene	YES	.	254	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCCGCTGAAC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000418357	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000490686	Transcript	.	.	ENSG00000240382	5733	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.834)	.	deleterious(0.02)	.	.	IGKV1-17	HGNC	.	.	UPI000011618B	SNV	IGKV1-17,missense_variant,p.Ser85Ile,ENST00000490686,;	281	92	47	SUCCESS
IGKV1D-17	28900	.	GRCh37	2	90122036	90122036	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747996565	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	24	292	0	ENST00000483379.1:c.254G>T	p.Ser85Ile	p.S85I	ENST00000483379		85	aGc/aTc	0	.	.	.	.	.	T	S/I	IG_V_gene	YES	.	254	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGCGGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000418292	.	2/2	.	.	.	.	.	.	.	.	rs747996565	2/2	PASS	ENST00000483379	Transcript	.	.	ENSG00000242766	5749	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.635)	.	deleterious(0.02)	.	.	IGKV1D-17	HGNC	.	.	UPI0000176CBA	SNV	IGKV1D-17,missense_variant,p.Ser85Ile,ENST00000483379,;	435	292	176	SUCCESS
ACPP	0	.	GRCh37	3	132047193	132047193	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs747998417	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	47	202	1	ENST00000351273.7:c.203G>C	p.Gly68Ala	p.G68A	ENST00000351273	NM_001134194.1	68	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS46916.1	203	RADIA|VARSCANS	.	ATTTGGCCAAC	NONE	byFrequency	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254	.	.	ENSP00000323036	.	2/11	.	.	.	.	.	.	.	.	rs747998417,COSM1670573,COSM1670572	2/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1,1	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,missense_variant,p.Gly68Ala,ENST00000351273,;ACPP,missense_variant,p.Gly68Ala,ENST00000495911,;ACPP,missense_variant,p.Gly68Ala,ENST00000475741,;ACPP,missense_variant,p.Gly68Ala,ENST00000336375,;ACPP,non_coding_transcript_exon_variant,,ENST00000489084,;ACPP,non_coding_transcript_exon_variant,,ENST00000493235,;ACPP,non_coding_transcript_exon_variant,,ENST00000483689,;	253	204	132	SUCCESS
PLCL2	23228	.	GRCh37	3	17053189	17053189	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs774032875	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	37	127	0	ENST00000418129.2:c.1973A>G	p.Tyr658Cys	p.Y658C	ENST00000418129	NM_001144382.1	658	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33713.1	1973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTATGTTG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF84,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000409637	.	2/6	.	.	.	.	.	.	.	.	rs774032875	2/6	PASS	ENST00000418129	Transcript	.	.	ENSG00000154822	9064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.28)	.	PLCL2_HUMAN	PLCL2	HGNC	.	.	UPI0000141145	SNV	PLCL2,missense_variant,p.Tyr658Cys,ENST00000396755,;PLCL2,missense_variant,p.Tyr402Cys,ENST00000419842,;PLCL2,missense_variant,p.Tyr658Cys,ENST00000432376,;PLCL2,missense_variant,p.Tyr658Cys,ENST00000418129,;PLCL2,downstream_gene_variant,,ENST00000460467,;	2438	127	83	SUCCESS
NGLY1	55768	.	GRCh37	3	25777623	25777623	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	139	0	ENST00000280700.5:c.1021G>C	p.Val341Leu	p.V341L	ENST00000280700	NM_018297.3	341	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS33719.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGACTTCTG	NONE	.	.	hmmpanther:PTHR12143,hmmpanther:PTHR12143:SF19,Pfam_domain:PF01841,SMART_domains:SM00460,Superfamily_domains:SSF54001	.	.	ENSP00000280700	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000280700	Transcript	.	.	ENSG00000151092	17646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	deleterious(0)	.	NGLY1_HUMAN	NGLY1	HGNC	C9JU75_HUMAN	.	UPI0000001239	SNV	NGLY1,missense_variant,p.Val341Leu,ENST00000280700,;NGLY1,missense_variant,p.Val299Leu,ENST00000417874,;NGLY1,missense_variant,p.Val341Leu,ENST00000396649,;NGLY1,3_prime_UTR_variant,,ENST00000422724,;NGLY1,intron_variant,,ENST00000428257,;NGLY1,intron_variant,,ENST00000308710,;NGLY1,upstream_gene_variant,,ENST00000467224,;NGLY1,3_prime_UTR_variant,,ENST00000280699,;NGLY1,non_coding_transcript_exon_variant,,ENST00000496726,;NGLY1,intron_variant,,ENST00000493324,;	1182	139	57	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913400	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	143	0	ENST00000349496.5:c.98C>T	p.Ser33Phe	p.S33F	ENST00000349496	NM_001904.3	33	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33F|c.98C>T|110,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33C|c.98C>G|191,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.949)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	143	60	SUCCESS
CDCP1	64866	.	GRCh37	3	45152154	45152154	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	65	150	0	ENST00000296129.1:c.835G>T	p.Glu279Ter	p.E279*	ENST00000296129	NM_022842.4	279	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2727.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTCCTCCT	NONE	.	.	hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0,Gene3D:2.60.120.290	.	.	ENSP00000296129	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000296129	Transcript	.	.	ENSG00000163814	24357	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDCP1_HUMAN	CDCP1	HGNC	.	.	UPI000013E304	SNV	CDCP1,stop_gained,p.Glu279Ter,ENST00000425231,;CDCP1,stop_gained,p.Glu279Ter,ENST00000296129,;CDCP1,downstream_gene_variant,,ENST00000490471,;	970	150	134	SUCCESS
FEZF2	55079	.	GRCh37	3	62356922	62356922	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	89	0	ENST00000283268.3:c.1090G>T	p.Glu364Ter	p.E364*	ENST00000283268	NM_018008.3	364	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2897.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTCGCAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000283268	.	4/5	.	.	.	.	.	.	.	.	COSM3427824	4/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,stop_gained,p.Glu364Ter,ENST00000283268,;FEZF2,stop_gained,p.Glu364Ter,ENST00000475839,;FEZF2,stop_gained,p.Glu364Ter,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	1385	89	72	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64582563	64582563	+	synonymous_variant	Silent	SNP	C	C	T	rs1450580267	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	72	0	ENST00000498707.1:c.4122G>A	p.Glu1374=	p.E1374=	ENST00000498707	NM_182920.1	1374	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS2903.1	4122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCTCATC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000418735	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,synonymous_variant,p.%3D,ENST00000481060,;ADAMTS9,synonymous_variant,p.%3D,ENST00000295903,;ADAMTS9,synonymous_variant,p.%3D,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	4465	72	52	SUCCESS
FRMD4B	23150	.	GRCh37	3	69362608	69362608	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	86	0	ENST00000398540.3:c.223G>T	p.Val75Phe	p.V75F	ENST00000398540	NM_015123.1	75	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS46863.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACCAGCA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000381549	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000398540	Transcript	.	.	ENSG00000114541	24886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FRM4B_HUMAN	FRMD4B	HGNC	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN	.	UPI00001C1DF1	SNV	FRMD4B,missense_variant,p.Val21Phe,ENST00000473029,;FRMD4B,missense_variant,p.Val75Phe,ENST00000398540,;FRMD4B,missense_variant,p.Val21Phe,ENST00000542259,;FRMD4B,missense_variant,p.Val21Phe,ENST00000497880,;FRMD4B,missense_variant,p.Val21Phe,ENST00000459638,;FRMD4B,missense_variant,p.Val21Phe,ENST00000460709,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000462308,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000470070,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000473188,;	307	86	50	SUCCESS
ARPC4-TTLL3	100526693	.	GRCh37	3	9867563	9867563	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	140	327	1	ENST00000397256.1:c.988C>T	p.Pro330Ser	p.P330S	ENST00000397256	NM_001198793.1	330	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43048.2	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTACCCCAG	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF92,Pfam_domain:PF03133	.	.	ENSP00000392549	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000426895	Transcript	.	.	ENSG00000214021	24483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	.	TTLL3	HGNC	J3KQB2_HUMAN,C9JW59_HUMAN,C9JQ30_HUMAN	.	UPI0001B79456	SNV	TTLL3,missense_variant,p.Pro57Ser,ENST00000430793,;TTLL3,missense_variant,p.Pro225Ser,ENST00000310252,;ARPC4-TTLL3,missense_variant,p.Pro330Ser,ENST00000397256,;TTLL3,missense_variant,p.Pro187Ser,ENST00000452823,;TTLL3,missense_variant,p.Pro412Ser,ENST00000426895,;TTLL3,missense_variant,p.Pro207Ser,ENST00000443148,;TTLL3,missense_variant,p.Pro57Ser,ENST00000427853,;TTLL3,missense_variant,p.Pro57Ser,ENST00000455274,;TTLL3,missense_variant,p.Pro57Ser,ENST00000383827,;TTLL3,missense_variant,p.Pro57Ser,ENST00000397241,;TTLL3,missense_variant,p.Pro269Ser,ENST00000547186,;TTLL3,upstream_gene_variant,,ENST00000471058,;TTLL3,non_coding_transcript_exon_variant,,ENST00000466245,;TTLL3,missense_variant,p.Pro57Ser,ENST00000438141,;TTLL3,missense_variant,p.Pro57Ser,ENST00000473661,;TTLL3,3_prime_UTR_variant,,ENST00000427220,;TTLL3,3_prime_UTR_variant,,ENST00000430390,;TTLL3,non_coding_transcript_exon_variant,,ENST00000496526,;TTLL3,non_coding_transcript_exon_variant,,ENST00000482269,;TTLL3,non_coding_transcript_exon_variant,,ENST00000492440,;TTLL3,non_coding_transcript_exon_variant,,ENST00000483051,;TTLL3,intron_variant,,ENST00000431204,;TTLL3,downstream_gene_variant,,ENST00000602338,;	1253	328	279	SUCCESS
NDNF	79625	.	GRCh37	4	121966814	121966814	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	153	0	ENST00000379692.4:c.179C>G	p.Thr60Arg	p.T60R	ENST00000379692	NM_024574.3	60	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS3717.2	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTGTATCT	NONE	.	.	hmmpanther:PTHR14619,hmmpanther:PTHR14619:SF1	.	.	ENSP00000369014	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000379692	Transcript	.	.	ENSG00000173376	26256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.04)	.	NDNF_HUMAN	NDNF	HGNC	D6RF18_HUMAN,D6R972_HUMAN	.	UPI00001D6985	SNV	NDNF,missense_variant,p.Thr60Arg,ENST00000515757,;NDNF,missense_variant,p.Thr60Arg,ENST00000511408,;NDNF,missense_variant,p.Thr60Arg,ENST00000379692,;	706	153	63	SUCCESS
PDE6B	5158	.	GRCh37	4	619713	619713	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs537263212	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	41	65	0	ENST00000496514.1:c.298C>A	p.Arg100Ser	p.R100S	ENST00000496514		100	Cgc/Agc	0	.	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS33932.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCGCAAC	NONE	by1000G	.	Superfamily_domains:SSF55781,SMART_domains:SM00065,Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	T:0	.	ENSP00000420295	T:0	1/22	.	.	.	.	.	.	.	.	rs537263212,COSM4125419	1/22	PASS	ENST00000496514	Transcript	1	T:0.0002	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	T:0.001	tolerated(0.16)	0,1	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.Arg100Ser,ENST00000496514,;PDE6B,missense_variant,p.Arg100Ser,ENST00000255622,;	319	65	79	SUCCESS
RAD50	10111	.	GRCh37	5	131915643	131915643	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	6	420	0	ENST00000265335.6:c.641A>C	p.Lys214Thr	p.K214T	ENST00000265335		214	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS34233.1	641	MUTECT|MUSE	.	TCTGAAGCAAT	NONE	.	.	hmmpanther:PTHR18867:SF12,hmmpanther:PTHR18867,Pfam_domain:PF13476,TIGRFAM_domain:TIGR00606,Superfamily_domains:SSF52540	.	.	ENSP00000265335	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000265335	Transcript	1	.	ENSG00000113522	9816	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.765)	.	deleterious(0)	.	RAD50_HUMAN	RAD50	HGNC	C9JNH8_HUMAN,A8K3I2_HUMAN	.	UPI000006E9ED	SNV	RAD50,missense_variant,p.Lys75Thr,ENST00000378823,;RAD50,missense_variant,p.Lys214Thr,ENST00000453394,;RAD50,missense_variant,p.Lys214Thr,ENST00000265335,;RAD50,downstream_gene_variant,,ENST00000416135,;RAD50,non_coding_transcript_exon_variant,,ENST00000487596,;RAD50,missense_variant,p.Lys214Thr,ENST00000423956,;RAD50,3_prime_UTR_variant,,ENST00000533482,;	1028	421	201	SUCCESS
TGFBI	7045	.	GRCh37	5	135388596	135388596	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs890309873	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	77	0	ENST00000442011.2:c.914A>G	p.Asp305Gly	p.D305G	ENST00000442011	NM_000358.2	305	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS47266.1	914	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACCTGC	NONE	.	.	PROSITE_profiles:PS50213,hmmpanther:PTHR10900:SF74,hmmpanther:PTHR10900,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Superfamily_domains:SSF82153	.	.	ENSP00000416330	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000442011	Transcript	1	.	ENSG00000120708	11771	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	tolerated(0.44)	.	BGH3_HUMAN	TGFBI	HGNC	D6RBX4_HUMAN,C7FFS5_HUMAN	.	UPI0000000C6A	SNV	TGFBI,missense_variant,p.Asp305Gly,ENST00000442011,;TGFBI,missense_variant,p.Asp23Gly,ENST00000514554,;TGFBI,missense_variant,p.Asp305Gly,ENST00000305126,;TGFBI,missense_variant,p.Asp49Gly,ENST00000604555,;TGFBI,intron_variant,,ENST00000508767,;TGFBI,splice_region_variant,,ENST00000506699,;TGFBI,splice_region_variant,,ENST00000515433,;TGFBI,splice_region_variant,,ENST00000507018,;TGFBI,downstream_gene_variant,,ENST00000509749,;TGFBI,upstream_gene_variant,,ENST00000509485,;TGFBI,upstream_gene_variant,,ENST00000514242,;	1075	77	42	SUCCESS
PCDHA1	56147	.	GRCh37	5	140168107	140168107	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	57	159	0	ENST00000504120.2:c.2232G>C	p.Ala744=	p.A744=	ENST00000504120	NM_018900.2	744	gcG/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54913.1	2232	RADIA|MUTECT|MUSE	.	AGCGCGTTGGG	NONE	.	.	hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028	.	.	ENSP00000420840	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000504120	Transcript	.	.	ENSG00000204970	8663	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	SNV	PCDHA1,synonymous_variant,p.%3D,ENST00000504120,;PCDHA1,synonymous_variant,p.%3D,ENST00000378133,;PCDHA1,intron_variant,,ENST00000394633,;	2232	159	134	SUCCESS
CAMK2A	815	.	GRCh37	5	149602646	149602646	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748774194	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	55	0	ENST00000348628.6:c.1339G>A	p.Ala447Thr	p.A447T	ENST00000348628	NM_171825.2	447	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43387.1	1372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGGTGC	NONE	byFrequency	.	Superfamily_domains:SSF54427,Gene3D:3.10.450.50,Pfam_domain:PF08332,hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347	.	.	ENSP00000381412	.	18/19	.	.	.	.	.	.	.	.	rs748774194	18/19	PASS	ENST00000398376	Transcript	.	.	ENSG00000070808	1460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.59)	.	KCC2A_HUMAN	CAMK2A	HGNC	D6RHX9_HUMAN,D6RFJ0_HUMAN,A8K161_HUMAN	.	UPI0000161115	SNV	CAMK2A,missense_variant,p.Ala447Thr,ENST00000348628,;CAMK2A,missense_variant,p.Ala458Thr,ENST00000398376,;SLC6A7,downstream_gene_variant,,ENST00000524041,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000351010,;	1376	55	57	SUCCESS
RNF145	153830	.	GRCh37	5	158586026	158586026	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	62	0	ENST00000424310.2:c.1644G>T	p.Val548=	p.V548=	ENST00000424310	NM_001199383.1	548	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS56393.1	1734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATCACAGC	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,SMART_domains:SM00744,Pfam_domain:PF13639,hmmpanther:PTHR12477:SF68,Gene3D:3.30.40.10,PROSITE_profiles:PS50089,hmmpanther:PTHR12477	.	.	ENSP00000430955	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	SNV	RNF145,synonymous_variant,p.%3D,ENST00000521606,;RNF145,synonymous_variant,p.%3D,ENST00000274542,;RNF145,synonymous_variant,p.%3D,ENST00000520638,;RNF145,synonymous_variant,p.%3D,ENST00000519865,;RNF145,synonymous_variant,p.%3D,ENST00000518802,;RNF145,synonymous_variant,p.%3D,ENST00000424310,;RNF145,non_coding_transcript_exon_variant,,ENST00000518284,;RNF145,non_coding_transcript_exon_variant,,ENST00000519985,;RNF145,downstream_gene_variant,,ENST00000521266,;RNF145,downstream_gene_variant,,ENST00000518062,;	1884	62	29	SUCCESS
GABRA6	2559	.	GRCh37	5	161115970	161115970	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	46	0	ENST00000274545.5:c.241G>T	p.Val81Phe	p.V81F	ENST00000274545		81	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS4356.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGTTTTT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000274545	.	4/9	.	.	.	.	.	.	.	.	COSM1065303	4/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.05)	1	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,missense_variant,p.Val21Phe,ENST00000520000,;GABRA6,missense_variant,p.Val81Phe,ENST00000274545,;GABRA6,missense_variant,p.Val28Phe,ENST00000517823,;GABRA6,intron_variant,,ENST00000523217,;GABRA6,upstream_gene_variant,,ENST00000523691,;RP11-348M17.2,intron_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	674	46	34	SUCCESS
C5orf22	55322	.	GRCh37	5	31541416	31541416	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745442454	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	99	0	ENST00000325366.9:c.899G>A	p.Arg300Gln	p.R300Q	ENST00000325366	NM_018356.2	300	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3895.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCGAATTC	NONE	byFrequency	.	hmmpanther:PTHR13225:SF2,hmmpanther:PTHR13225	.	.	ENSP00000326879	.	6/9	.	.	.	.	.	.	.	.	rs745442454,COSM1067249	6/9	PASS	ENST00000325366	Transcript	.	.	ENSG00000082213	25639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.889)	.	deleterious(0.01)	0,1	CE022_HUMAN	C5orf22	HGNC	.	.	UPI000006FDD5	SNV	C5orf22,missense_variant,p.Arg300Gln,ENST00000325366,;C5orf22,5_prime_UTR_variant,,ENST00000355907,;C5orf22,downstream_gene_variant,,ENST00000517780,;C5orf22,upstream_gene_variant,,ENST00000504866,;C5orf22,3_prime_UTR_variant,,ENST00000513967,;C5orf22,3_prime_UTR_variant,,ENST00000504464,;C5orf22,3_prime_UTR_variant,,ENST00000510659,;C5orf22,non_coding_transcript_exon_variant,,ENST00000510530,;C5orf22,downstream_gene_variant,,ENST00000511208,;	1026	99	40	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33630934	33630934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	48	258	0	ENST00000504830.1:c.1973G>T	p.Cys658Phe	p.C658F	ENST00000504830	NM_030955.2	658	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34140.1	1973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCAAGGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	.	.	ENSP00000422554	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,missense_variant,p.Cys658Phe,ENST00000504830,;ADAMTS12,intron_variant,,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	2309	258	125	SUCCESS
ADCY2	108	.	GRCh37	5	7698485	7698485	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	50	0	ENST00000338316.4:c.1107A>G	p.Ile369Met	p.I369M	ENST00000338316	NM_020546.2	369	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS3872.2	1107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATAAAGTA	NONE	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,PROSITE_profiles:PS50125	.	.	ENSP00000342952	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Ile369Met,ENST00000338316,;ADCY2,missense_variant,p.Ile189Met,ENST00000537121,;ADCY2,downstream_gene_variant,,ENST00000515681,;	1196	50	26	SUCCESS
SEC63	11231	.	GRCh37	6	108194082	108194082	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	192	0	ENST00000369002.4:c.2069G>A	p.Gly690Glu	p.G690E	ENST00000369002	NM_007214.4	690	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS5061.1	2069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCCAGGC	NONE	.	.	hmmpanther:PTHR24075,Gene3D:2.60.40.150,SMART_domains:SM00611,SMART_domains:SM00973,Superfamily_domains:SSF81296	.	.	ENSP00000357998	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000369002	Transcript	.	.	ENSG00000025796	21082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SEC63_HUMAN	SEC63	HGNC	A6PVC9_HUMAN	.	UPI000000DBBB	SNV	SEC63,missense_variant,p.Gly690Glu,ENST00000369002,;SEC63,non_coding_transcript_exon_variant,,ENST00000459782,;SEC63,downstream_gene_variant,,ENST00000473746,;	2249	192	73	SUCCESS
REV3L	5980	.	GRCh37	6	111652972	111652972	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	110	0	ENST00000358835.3:c.7941A>G	p.Lys2647=	p.K2647=	ENST00000358835		2647	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS5091.2	7941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATTTGAA	NONE	.	.	Superfamily_domains:SSF56672,SMART_domains:SM00486,Pfam_domain:PF00136,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,synonymous_variant,p.%3D,ENST00000435970,;REV3L,synonymous_variant,p.%3D,ENST00000358835,;REV3L,synonymous_variant,p.%3D,ENST00000368802,;REV3L,synonymous_variant,p.%3D,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	8396	110	34	SUCCESS
LAMA2	3908	.	GRCh37	6	129723605	129723605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	63	0	ENST00000421865.2:c.5699T>C	p.Leu1900Ser	p.L1900S	ENST00000421865	NM_001079823.1	1900	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS5138.1	5699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTTGAATG	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Superfamily_domains:SSF58104	.	.	ENSP00000400365	.	39/65	.	.	.	.	.	.	.	.	.	39/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Leu1900Ser,ENST00000421865,;	5748	63	20	SUCCESS
KIAA1244	0	.	GRCh37	6	138483281	138483281	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	77	137	0	ENST00000251691.4:c.58A>G	p.Ile20Val	p.I20V	ENST00000251691	NM_020340.4	20	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5189.2	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCATCAAG	NONE	.	.	.	.	.	ENSP00000251691	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.15)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Ile20Val,ENST00000251691,;	224	137	196	SUCCESS
REPS1	85021	.	GRCh37	6	139234056	139234056	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	55	1	ENST00000450536.2:c.1817A>G	p.Asp606Gly	p.D606G	ENST00000450536	NM_001286611.1	606	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5193.2	1814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCATCCACT	NONE	.	.	hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF63	.	.	ENSP00000258062	.	16/20	.	.	.	.	.	.	.	.	COSM1620981	16/20	PASS	ENST00000258062	Transcript	.	.	ENSG00000135597	15578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.535)	.	tolerated(0.42)	1	REPS1_HUMAN	REPS1	HGNC	.	.	UPI000020E30A	SNV	REPS1,missense_variant,p.Asp564Gly,ENST00000529597,;REPS1,missense_variant,p.Asp606Gly,ENST00000450536,;REPS1,missense_variant,p.Asp579Gly,ENST00000367663,;REPS1,missense_variant,p.Asp515Gly,ENST00000409812,;REPS1,missense_variant,p.Asp129Gly,ENST00000530255,;REPS1,missense_variant,p.Asp605Gly,ENST00000258062,;REPS1,missense_variant,p.Asp579Gly,ENST00000415951,;REPS1,upstream_gene_variant,,ENST00000526022,;REPS1,upstream_gene_variant,,ENST00000478483,;REPS1,3_prime_UTR_variant,,ENST00000483468,;REPS1,3_prime_UTR_variant,,ENST00000445570,;REPS1,non_coding_transcript_exon_variant,,ENST00000529423,;REPS1,non_coding_transcript_exon_variant,,ENST00000492787,;REPS1,non_coding_transcript_exon_variant,,ENST00000484164,;REPS1,upstream_gene_variant,,ENST00000530370,;REPS1,upstream_gene_variant,,ENST00000526244,;	2393	56	29	SUCCESS
STXBP5	134957	.	GRCh37	6	147684673	147684673	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	39	200	0	ENST00000321680.6:c.2748G>A	p.Val916=	p.V916=	ENST00000321680	NM_001127715.2	916	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47499.1	2748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTGATATG	NONE	.	.	Superfamily_domains:SSF50978,Pfam_domain:PF08596,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22	.	.	ENSP00000321826	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,synonymous_variant,p.%3D,ENST00000321680,;STXBP5,synonymous_variant,p.%3D,ENST00000367480,;STXBP5,synonymous_variant,p.%3D,ENST00000392291,;STXBP5,synonymous_variant,p.%3D,ENST00000179882,;STXBP5,synonymous_variant,p.%3D,ENST00000367481,;STXBP5,downstream_gene_variant,,ENST00000367475,;	2748	201	109	SUCCESS
MTRF1L	54516	.	GRCh37	6	153316417	153316417	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774580344	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	151	0	ENST00000367233.5:c.377A>G	p.Glu126Gly	p.E126G	ENST00000367233	NM_019041.5	126	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5243.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTCATCT	NONE	byFrequency	.	Superfamily_domains:SSF75620,SMART_domains:SM00937,Pfam_domain:PF03462,hmmpanther:PTHR11075:SF42,hmmpanther:PTHR11075	.	.	ENSP00000356202	.	3/7	.	.	.	.	.	.	.	.	rs774580344	3/7	PASS	ENST00000367233	Transcript	.	.	ENSG00000112031	21051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.16)	.	RF1ML_HUMAN	MTRF1L	HGNC	.	.	UPI0000071978	SNV	MTRF1L,missense_variant,p.Glu126Gly,ENST00000367230,;MTRF1L,missense_variant,p.Glu126Gly,ENST00000367233,;MTRF1L,missense_variant,p.Glu126Gly,ENST00000367231,;MTRF1L,missense_variant,p.Glu13Gly,ENST00000414771,;MTRF1L,upstream_gene_variant,,ENST00000448966,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000463251,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000464135,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000485283,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000485512,;MTRF1L,upstream_gene_variant,,ENST00000461949,;MTRF1L,downstream_gene_variant,,ENST00000482526,;	377	151	53	SUCCESS
FNDC1	84624	.	GRCh37	6	159653660	159653660	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772608315	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	81	1	ENST00000297267.9:c.2116G>A	p.Ala706Thr	p.A706T	ENST00000297267	NM_032532.2	706	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47512.1	2116	RADIA|SOMATICSNIPER|VARSCANS	.	GGGCCGCAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	rs772608315	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.58)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Ala643Thr,ENST00000340366,;FNDC1,missense_variant,p.Ala706Thr,ENST00000297267,;FNDC1,missense_variant,p.Ala602Thr,ENST00000329629,;	2316	82	86	SUCCESS
PLG	5340	.	GRCh37	6	161134133	161134133	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	51	0	ENST00000308192.9:c.523T>A	p.Tyr175Asn	p.Y175N	ENST00000308192	NM_000301.3	175	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS5279.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTACTGC	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,PIRSF_domain:PIRSF001150,Superfamily_domains:SSF57440	.	.	ENSP00000308938	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000308192	Transcript	.	.	ENSG00000122194	9071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0.02)	.	PLMN_HUMAN	PLG	HGNC	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN	.	UPI000000D8B8	SNV	PLG,missense_variant,p.Tyr175Asn,ENST00000308192,;PLG,downstream_gene_variant,,ENST00000366924,;PLG,downstream_gene_variant,,ENST00000418964,;PLG,non_coding_transcript_exon_variant,,ENST00000462918,;PLG,intron_variant,,ENST00000297289,;PLG,downstream_gene_variant,,ENST00000483038,;PLG,downstream_gene_variant,,ENST00000494325,;PLG,downstream_gene_variant,,ENST00000484367,;PLG,downstream_gene_variant,,ENST00000471691,;	586	51	39	SUCCESS
HSPA1B	3304	.	GRCh37	6	31795915	31795915	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779841385	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	46	83	0	ENST00000375650.3:c.188C>G	p.Pro63Arg	p.P63R	ENST00000375650	NM_005346.4	63	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS34415.1	188	RADIA|SOMATICSNIPER|VARSCANS	.	GAACCCGCAGA	NONE	.	.	Prints_domain:PR00301,Superfamily_domains:SSF53067,Gene3D:3.30.30.30,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF155	.	.	ENSP00000364801	.	1/1	.	.	.	.	.	.	.	.	rs779841385	1/1	PASS	ENST00000375650	Transcript	.	.	ENSG00000204388	5233	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	HSP71_HUMAN	HSPA1B	HGNC	A8K5I0_HUMAN	.	UPI0000000C40	SNV	HSPA1B,missense_variant,p.Pro63Arg,ENST00000375650,;HSPA1B,intron_variant,,ENST00000545241,;	404	83	84	SUCCESS
VPS52	6293	.	GRCh37	6	33231576	33231576	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	3	78	0	ENST00000445902.2:c.1701C>G	p.Asn567Lys	p.N567K	ENST00000445902	NM_022553.4	567	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS4770.2	1701	MUTECT|MUSE	.	TCATAGTTGTT	NONE	.	.	hmmpanther:PTHR14190,Pfam_domain:PF04129	.	.	ENSP00000409952	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,missense_variant,p.Asn442Lys,ENST00000436044,;VPS52,missense_variant,p.Asn567Lys,ENST00000445902,;VPS52,3_prime_UTR_variant,,ENST00000482399,;VPS52,non_coding_transcript_exon_variant,,ENST00000493674,;VPS52,non_coding_transcript_exon_variant,,ENST00000478934,;VPS52,non_coding_transcript_exon_variant,,ENST00000471309,;VPS52,upstream_gene_variant,,ENST00000495981,;VPS52,downstream_gene_variant,,ENST00000464425,;VPS52,downstream_gene_variant,,ENST00000463486,;VPS52,non_coding_transcript_exon_variant,,ENST00000461743,;VPS52,downstream_gene_variant,,ENST00000493379,;VPS52,downstream_gene_variant,,ENST00000495755,;	1920	78	67	SUCCESS
USP45	85015	.	GRCh37	6	99883624	99883624	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	60	0	ENST00000327681.6:c.2413G>A	p.Ala805Thr	p.A805T	ENST00000327681	NM_001080481.1	805	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34501.1	2413	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GTAGGCTTGTG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF346,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000333376	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000327681	Transcript	.	.	ENSG00000123552	20080	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP45_HUMAN	USP45	HGNC	F5H1L5_HUMAN,D6RE98_HUMAN	.	UPI0000253B80	SNV	USP45,missense_variant,p.Ala485Thr,ENST00000392738,;USP45,missense_variant,p.Ala757Thr,ENST00000369233,;USP45,missense_variant,p.Ala805Thr,ENST00000500704,;USP45,missense_variant,p.Ala805Thr,ENST00000327681,;USP45,missense_variant,p.Ala98Thr,ENST00000539675,;RP11-98I9.4,downstream_gene_variant,,ENST00000418945,;USP45,3_prime_UTR_variant,,ENST00000496518,;	2946	60	19	SUCCESS
CHPF2	54480	.	GRCh37	7	150935715	150935715	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749150019	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	65	0	ENST00000035307.2:c.2267G>C	p.Arg756Pro	p.R756P	ENST00000035307	NM_019015.1	756	cGt/cCt	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS34779.1	2267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGTGCCC	NONE	byFrequency	.	hmmpanther:PTHR12369:SF14,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000035307	.	4/4	.	.	.	.	.	.	.	.	rs749150019	4/4	PASS	ENST00000035307	Transcript	.	.	ENSG00000033100	29270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CHPF2_HUMAN	CHPF2	HGNC	.	.	UPI000003F537	SNV	CHPF2,missense_variant,p.Arg756Pro,ENST00000035307,;CHPF2,missense_variant,p.Arg748Pro,ENST00000495645,;CHPF2,downstream_gene_variant,,ENST00000482173,;SMARCD3,downstream_gene_variant,,ENST00000491651,;SMARCD3,downstream_gene_variant,,ENST00000262188,;SMARCD3,downstream_gene_variant,,ENST00000392811,;SMARCD3,downstream_gene_variant,,ENST00000356800,;MIR671,downstream_gene_variant,,ENST00000390183,;RP4-548D19.3,upstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,downstream_gene_variant,,ENST00000496530,;SMARCD3,downstream_gene_variant,,ENST00000460431,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000485592,;SMARCD3,downstream_gene_variant,,ENST00000472988,;SMARCD3,downstream_gene_variant,,ENST00000472103,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000485610,;CHPF2,downstream_gene_variant,,ENST00000465601,;SMARCD3,downstream_gene_variant,,ENST00000472789,;	3780	65	84	SUCCESS
CCDC132	0	.	GRCh37	7	92861779	92861779	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	39	0	ENST00000305866.5:c.-2A>T		p.*1*	ENST00000305866	NM_017667.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43617.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCGATATGC	NONE	.	.	.	.	.	ENSP00000307666	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000305866	Transcript	.	.	ENSG00000004766	25956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC132_HUMAN	CCDC132	HGNC	A7MD03_HUMAN	.	UPI000015F998	SNV	CCDC132,5_prime_UTR_variant,,ENST00000317751,;CCDC132,5_prime_UTR_variant,,ENST00000305866,;CCDC132,5_prime_UTR_variant,,ENST00000544910,;CCDC132,5_prime_UTR_variant,,ENST00000535481,;CCDC132,5_prime_UTR_variant,,ENST00000251739,;CCDC132,5_prime_UTR_variant,,ENST00000458530,;CCDC132,5_prime_UTR_variant,,ENST00000541136,;CCDC132,5_prime_UTR_variant,,ENST00000436177,;CCDC132,5_prime_UTR_variant,,ENST00000441602,;CCDC132,5_prime_UTR_variant,,ENST00000438395,;CCDC132,non_coding_transcript_exon_variant,,ENST00000477935,;CCDC132,non_coding_transcript_exon_variant,,ENST00000485994,;	127	39	33	SUCCESS
XKR6	286046	.	GRCh37	8	10782179	10782179	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	58	0	ENST00000416569.2:c.926T>C	p.Ile309Thr	p.I309T	ENST00000416569	NM_173683.3	309	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS5978.2	926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGATGTAG	NONE	.	.	hmmpanther:PTHR32129:SF7,hmmpanther:PTHR32129,Pfam_domain:PF09815	.	.	ENSP00000416707	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000416569	Transcript	.	.	ENSG00000171044	27806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	XKR6_HUMAN	XKR6	HGNC	.	.	UPI00004C7A9D	SNV	XKR6,missense_variant,p.Ile30Thr,ENST00000304437,;XKR6,missense_variant,p.Ile309Thr,ENST00000416569,;XKR6,missense_variant,p.Ile86Thr,ENST00000382461,;	953	58	33	SUCCESS
MTSS1	9788	.	GRCh37	8	125580812	125580812	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	54	0	ENST00000518547.1:c.461-35T>C		p.*154*	ENST00000518547	NM_014751.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6353.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGAAATAC	NONE	.	.	.	.	.	ENSP00000429064	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000518547	Transcript	.	.	ENSG00000170873	20443	.	.	MODIFIER	6/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTSS1_HUMAN	MTSS1	HGNC	E5RJX3_HUMAN	.	UPI000019B3D8	SNV	MTSS1,synonymous_variant,p.%3D,ENST00000524090,;MTSS1,intron_variant,,ENST00000522118,;MTSS1,intron_variant,,ENST00000522162,;MTSS1,intron_variant,,ENST00000518547,;MTSS1,intron_variant,,ENST00000378017,;MTSS1,intron_variant,,ENST00000354184,;MTSS1,intron_variant,,ENST00000431961,;MTSS1,intron_variant,,ENST00000325064,;MTSS1,upstream_gene_variant,,ENST00000395508,;MTSS1,upstream_gene_variant,,ENST00000523179,;NDUFB9,downstream_gene_variant,,ENST00000522532,;MTSS1,upstream_gene_variant,,ENST00000519168,;MTSS1,upstream_gene_variant,,ENST00000522722,;MTSS1,upstream_gene_variant,,ENST00000519226,;	.	54	38	SUCCESS
EFR3A	23167	.	GRCh37	8	132966069	132966069	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	79	0	ENST00000254624.5:c.493C>T	p.Arg165Ter	p.R165*	ENST00000254624	NM_015137.4	165	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS34942.2	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATACGAATT	NONE	.	.	hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000254624	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000254624	Transcript	.	.	ENSG00000132294	28970	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFR3A_HUMAN	EFR3A	HGNC	E5RJS1_HUMAN,B4DZ89_HUMAN	.	UPI00001C1E8F	SNV	EFR3A,stop_gained,p.Arg129Ter,ENST00000522709,;EFR3A,stop_gained,p.Arg165Ter,ENST00000254624,;EFR3A,stop_gained,p.Arg129Ter,ENST00000519656,;EFR3A,stop_gained,p.Arg165Ter,ENST00000334503,;	718	79	39	SUCCESS
COL22A1	169044	.	GRCh37	8	139856352	139856352	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	74	0	ENST00000303045.6:c.708C>A	p.Thr236=	p.T236=	ENST00000303045	NM_152888.1	236	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6376.1	708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTGGTGTG	NONE	.	.	.	.	.	ENSP00000303153	.	4/65	.	.	.	.	.	.	.	.	.	4/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,synonymous_variant,p.%3D,ENST00000303045,;COL22A1,synonymous_variant,p.%3D,ENST00000435777,;	1155	74	56	SUCCESS
PSD3	23362	.	GRCh37	8	18662113	18662113	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	94	0	ENST00000440756.2:c.1830-1G>T		p.X610_splice	ENST00000440756		610		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43720.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTGCTATAA	NONE	.	.	.	.	.	ENSP00000324127	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327040	Transcript	.	.	ENSG00000156011	19093	.	.	HIGH	5/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD3_HUMAN	PSD3	HGNC	E5RJE4_HUMAN,E5RJ29_HUMAN	.	UPI0000210A46	SNV	PSD3,splice_acceptor_variant,,ENST00000523619,;PSD3,splice_acceptor_variant,,ENST00000327040,;PSD3,splice_acceptor_variant,,ENST00000519851,;PSD3,splice_acceptor_variant,,ENST00000286485,;PSD3,splice_acceptor_variant,,ENST00000521027,;PSD3,splice_acceptor_variant,,ENST00000520858,;PSD3,splice_acceptor_variant,,ENST00000440756,;AC090420.1,downstream_gene_variant,,ENST00000516154,;PSD3,splice_acceptor_variant,,ENST00000519653,;PSD3,splice_acceptor_variant,,ENST00000518303,;PSD3,splice_acceptor_variant,,ENST00000518315,;PSD3,splice_acceptor_variant,,ENST00000517971,;PSD3,splice_acceptor_variant,,ENST00000518963,;PSD3,splice_acceptor_variant,,ENST00000519633,;	.	94	41	SUCCESS
ADAM28	10863	.	GRCh37	8	24199212	24199212	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	47	186	0	ENST00000265769.4:c.1772A>C	p.Glu591Ala	p.E591A	ENST00000265769	NM_014265.4	591	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS34865.1	1772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAAGACA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,SMART_domains:SM00608	.	.	ENSP00000265769	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	tolerated(0.15)	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,missense_variant,p.Glu224Ala,ENST00000521629,;ADAM28,missense_variant,p.Glu338Ala,ENST00000397649,;ADAM28,missense_variant,p.Glu591Ala,ENST00000265769,;ADAM28,missense_variant,p.Glu17Ala,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523236,;ADAM28,upstream_gene_variant,,ENST00000520665,;	1882	186	95	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70744717	70744717	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	59	74	0	ENST00000260126.4:c.192G>T	p.Val64=	p.V64=	ENST00000260126	NM_030958.2	64	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6205.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCACACA	NONE	.	.	hmmpanther:PTHR11388:SF86,hmmpanther:PTHR11388	.	.	ENSP00000260126	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,synonymous_variant,p.%3D,ENST00000260126,;SLCO5A1,synonymous_variant,p.%3D,ENST00000530307,;SLCO5A1,synonymous_variant,p.%3D,ENST00000524945,;RP11-159H10.3,upstream_gene_variant,,ENST00000533300,;RP11-159H10.3,upstream_gene_variant,,ENST00000528800,;RP11-159H10.3,upstream_gene_variant,,ENST00000501104,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,downstream_gene_variant,,ENST00000524703,;SLCO5A1,downstream_gene_variant,,ENST00000531422,;SLCO5A1,synonymous_variant,p.%3D,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;	899	74	93	SUCCESS
ZFHX4	79776	.	GRCh37	8	77767076	77767076	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	131	147	0	ENST00000521891.2:c.7919G>T	p.Arg2640Leu	p.R2640L	ENST00000521891	NM_024721.4	2640	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS47878.2	7919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGCGAAG	BUFFER|p.E2641K|c.7921G>A|4	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Arg2595Leu,ENST00000455469,;ZFHX4,missense_variant,p.Arg2614Leu,ENST00000518282,;ZFHX4,missense_variant,p.Arg2595Leu,ENST00000050961,;ZFHX4,missense_variant,p.Arg2640Leu,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	8367	147	234	SUCCESS
COL5A1	1289	.	GRCh37	9	137703411	137703411	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	127	0	ENST00000371817.3:c.3656G>A	p.Gly1219Asp	p.G1219D	ENST00000371817	NM_001278074.1	1219	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS6982.1	3656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGCTTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	.	ENSP00000360882	.	46/66	.	.	.	.	.	.	.	.	.	46/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Gly1219Asp,ENST00000371817,;COL5A1,downstream_gene_variant,,ENST00000463925,;	4070	127	102	SUCCESS
ANAPC2	29882	.	GRCh37	9	140077646	140077646	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1588762447	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	97	0	ENST00000323927.2:c.1217C>T	p.Ala406Val	p.A406V	ENST00000323927	NM_013366.3	406	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7033.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGCCTTG	BUFFER|p.V409M|c.1225G>A|3	.	.	hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Pfam_domain:PF00888	.	.	ENSP00000314004	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000323927	Transcript	.	.	ENSG00000176248	19989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	ANC2_HUMAN	ANAPC2	HGNC	B4DJR9_HUMAN	.	UPI0000043E1B	SNV	ANAPC2,missense_variant,p.Ala406Val,ENST00000323927,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000495611,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000471131,;ANAPC2,upstream_gene_variant,,ENST00000483432,;	1222	97	93	SUCCESS
VCP	7415	.	GRCh37	9	35068306	35068306	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	71	0	ENST00000358901.6:c.71A>C	p.Asn24Thr	p.N24T	ENST00000358901	NM_007126.3	24	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS6573.1	71	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGATTGGGA	NONE	.	.	Superfamily_domains:SSF50692,Gene3D:2.40.40.20,hmmpanther:PTHR23077:SF69,hmmpanther:PTHR23077	.	.	ENSP00000351777	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000358901	Transcript	.	.	ENSG00000165280	12666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.01)	.	TERA_HUMAN	VCP	HGNC	Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN	.	UPI000005FB2E	SNV	VCP,missense_variant,p.Asn24Thr,ENST00000358901,;VCP,5_prime_UTR_variant,,ENST00000417448,;VCP,5_prime_UTR_variant,,ENST00000448530,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;	967	71	48	SUCCESS
RASEF	158158	.	GRCh37	9	85670496	85670496	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	40	0	ENST00000376447.3:c.431+6856G>T		p.*144*	ENST00000376447	NM_152573.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6662.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTCCAAAG	NONE	.	.	.	.	.	ENSP00000365630	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376447	Transcript	.	.	ENSG00000165105	26464	.	.	MODIFIER	1/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASEF_HUMAN	RASEF	HGNC	.	.	UPI0000074189	SNV	RASEF,missense_variant,p.Trp178Cys,ENST00000340717,;RASEF,intron_variant,,ENST00000376447,;	.	40	23	SUCCESS
COL4A5	1287	.	GRCh37	X	107925029	107925029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	45	120	0	ENST00000361603.2:c.4109T>C	p.Ile1370Thr	p.I1370T	ENST00000361603	NM_000495.4	1370	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS35366.1	4127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCATAATTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023	.	.	ENSP00000331902	.	47/53	.	.	.	.	.	.	.	.	.	47/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Ile1376Thr,ENST00000328300,;COL4A5,missense_variant,p.Ile1370Thr,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000515658,;Y_RNA,upstream_gene_variant,,ENST00000384417,;COL4A5,downstream_gene_variant,,ENST00000510690,;COL4A5,non_coding_transcript_exon_variant,,ENST00000489230,;	4371	120	58	SUCCESS
TENM1	10178	.	GRCh37	X	123514834	123514834	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	53	97	0	ENST00000371130.3:c.7730A>T	p.Lys2577Met	p.K2577M	ENST00000371130	NM_014253.3	2577	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS55488.1	7751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTTAATG	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Lys2584Met,ENST00000422452,;TENM1,missense_variant,p.Lys2577Met,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	7815	97	59	SUCCESS
HEPH	9843	.	GRCh37	X	65408259	65408259	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	56	130	0	ENST00000343002.2:c.684C>T	p.Leu228=	p.L228=	ENST00000343002		228	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14384.3	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCTCTT	NONE	.	.	Superfamily_domains:SSF49503,Gene3D:2.60.40.420,hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127	.	.	ENSP00000430620	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000519389	Transcript	.	.	ENSG00000089472	4866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEPH_HUMAN	HEPH	HGNC	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN	.	UPI0001C06560	SNV	HEPH,synonymous_variant,p.%3D,ENST00000425114,;HEPH,synonymous_variant,p.%3D,ENST00000343002,;HEPH,synonymous_variant,p.%3D,ENST00000519389,;HEPH,synonymous_variant,p.%3D,ENST00000441993,;HEPH,synonymous_variant,p.%3D,ENST00000374727,;HEPH,synonymous_variant,p.%3D,ENST00000419594,;HEPH,5_prime_UTR_variant,,ENST00000336279,;	1025	130	61	SUCCESS
MED12	9968	.	GRCh37	X	70349274	70349274	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	33	39	0	ENST00000374080.3:c.3686T>A	p.Val1229Glu	p.V1229E	ENST00000374080		1229	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS43970.1	3686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGTACTTG	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000363193	.	26/45	.	.	.	.	.	.	.	.	.	26/45	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	SNV	MED12,missense_variant,p.Val1229Glu,ENST00000374102,;MED12,missense_variant,p.Val1229Glu,ENST00000333646,;MED12,missense_variant,p.Val1229Glu,ENST00000374080,;MED12,non_coding_transcript_exon_variant,,ENST00000460771,;MED12,downstream_gene_variant,,ENST00000462984,;MED12,downstream_gene_variant,,ENST00000489199,;MED12,downstream_gene_variant,,ENST00000471663,;	3718	39	39	SUCCESS
KAL1	0	.	GRCh37	X	8553366	8553366	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	20	33	0	ENST00000262648.3:c.798G>A	p.Val266=	p.V266=	ENST00000262648	NM_000216.2	266	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14130.1	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCACAGC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR14131:SF3,hmmpanther:PTHR14131,PROSITE_profiles:PS50853	.	.	ENSP00000262648	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000262648	Transcript	.	.	ENSG00000011201	6211	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KALM_HUMAN	KAL1	HGNC	.	.	UPI00001AE843	SNV	KAL1,synonymous_variant,p.%3D,ENST00000262648,;	948	33	24	SUCCESS
ADARB2	105	.	GRCh37	10	1405325	1405325	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752210106	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	21	0	ENST00000381312.1:c.975G>T	p.Lys325Asn	p.K325N	ENST00000381312	NM_018702.3	325	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS7058.1	975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCTTCTT	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000370713	.	3/10	.	.	.	.	.	.	.	.	rs752210106	3/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,missense_variant,p.Lys325Asn,ENST00000381312,;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	1301	21	26	SUCCESS
PFKFB3	5209	.	GRCh37	10	6262815	6262815	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748570830	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	41	0	ENST00000379775.4:c.818G>A	p.Ser273Asn	p.S273N	ENST00000379775	NM_004566.3	273	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS7078.1	818	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGCCGGG	NONE	byFrequency	.	Superfamily_domains:SSF53254,PIRSF_domain:PIRSF000709,SMART_domains:SM00855,Pfam_domain:PF00300,Gene3D:3.40.50.1240,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	.	.	ENSP00000369100	.	8/15	.	.	.	.	.	.	.	.	rs748570830	8/15	PASS	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,missense_variant,p.Ser287Asn,ENST00000540253,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000317350,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000379775,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000379785,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000379782,;PFKFB3,missense_variant,p.Ser253Asn,ENST00000379789,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000360521,;PFKFB3,3_prime_UTR_variant,,ENST00000536985,;PFKFB3,upstream_gene_variant,,ENST00000450232,;PFKFB3,upstream_gene_variant,,ENST00000441697,;PFKFB3,upstream_gene_variant,,ENST00000414237,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000467491,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000477914,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000461744,;PFKFB3,missense_variant,p.Ser273Asn,ENST00000490474,;PFKFB3,upstream_gene_variant,,ENST00000475881,;PFKFB3,upstream_gene_variant,,ENST00000487989,;	1148	41	44	SUCCESS
PSAP	5660	.	GRCh37	10	73594188	73594188	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	60	0	ENST00000394936.3:c.115G>A	p.Ala39Thr	p.A39T	ENST00000394936		39	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7311.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGCCGTCT	NONE	.	.	PROSITE_profiles:PS51110,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF36,Pfam_domain:PF02199,PIRSF_domain:PIRSF002431,SMART_domains:SM00162,Prints_domain:PR01797	.	.	ENSP00000378394	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000394936	Transcript	1	.	ENSG00000197746	9498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SAP_HUMAN	PSAP	HGNC	.	.	UPI0000000DBF	SNV	PSAP,missense_variant,p.Ala39Thr,ENST00000394934,;PSAP,missense_variant,p.Ala39Thr,ENST00000394936,;	263	60	81	SUCCESS
USP54	159195	.	GRCh37	10	75296083	75296083	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	109	0	ENST00000339859.4:c.1088del	p.Pro363LeufsTer79	p.P363Lfs*79	ENST00000339859		363	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7329.2	1088	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGGAGGCAGG	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5	.	.	ENSP00000345216	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000339859	Transcript	.	.	ENSG00000166348	23513	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP54_HUMAN	USP54	HGNC	.	.	UPI0000DFF136	deletion	USP54,frameshift_variant,p.Pro213LeufsTer79,ENST00000428547,;USP54,frameshift_variant,p.Pro363LeufsTer79,ENST00000319786,;USP54,frameshift_variant,p.Pro363LeufsTer79,ENST00000339859,;USP54,frameshift_variant,p.Pro363LeufsTer79,ENST00000408019,;USP54,5_prime_UTR_variant,,ENST00000394811,;USP54,downstream_gene_variant,,ENST00000451492,;USP54,non_coding_transcript_exon_variant,,ENST00000461520,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,frameshift_variant,p.Pro161LeufsTer79,ENST00000424265,;USP54,non_coding_transcript_exon_variant,,ENST00000498143,;USP54,upstream_gene_variant,,ENST00000466048,;RP11-137L10.5,upstream_gene_variant,,ENST00000450370,;	1189	109	121	SUCCESS
CNTN5	53942	.	GRCh37	11	100211261	100211261	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	160	0	ENST00000524871.1:c.2797T>C	p.Ser933Pro	p.S933P	ENST00000524871	NM_014361.3	933	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS53696.1	2797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGTCTTTC	BUFFER|p.V935I|c.2803G>A|3,BUFFER|p.V935I|c.2803G>A|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000435637	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	deleterious(0)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Ser933Pro,ENST00000279463,;CNTN5,missense_variant,p.Ser933Pro,ENST00000524871,;CNTN5,missense_variant,p.Ser933Pro,ENST00000528682,;CNTN5,missense_variant,p.Ser859Pro,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;RPA2P3,downstream_gene_variant,,ENST00000533268,;	3087	160	134	SUCCESS
KBTBD3	143879	.	GRCh37	11	105923599	105923599	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	28	127	0	ENST00000526793.1:c.1817G>T	p.Trp606Leu	p.W606L	ENST00000526793	NM_152433.3	606	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS8334.1	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCATGGG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF5	.	.	ENSP00000436262	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000526793	Transcript	.	.	ENSG00000182359	22934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.494)	.	deleterious_low_confidence(0.01)	.	KBTB3_HUMAN	KBTBD3	HGNC	G3V161_HUMAN,E9PKJ3_HUMAN	.	UPI00001BDB79	SNV	KBTBD3,missense_variant,p.Trp606Leu,ENST00000531837,;KBTBD3,missense_variant,p.Trp606Leu,ENST00000526793,;KBTBD3,missense_variant,p.Trp527Leu,ENST00000534815,;KBTBD3,downstream_gene_variant,,ENST00000531482,;KBTBD3,downstream_gene_variant,,ENST00000532662,;	1977	127	113	SUCCESS
KBTBD3	143879	.	GRCh37	11	105923600	105923600	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	28	127	0	ENST00000526793.1:c.1816T>A	p.Trp606Arg	p.W606R	ENST00000526793	NM_152433.3	606	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS8334.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCATGGGT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF5	.	.	ENSP00000436262	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000526793	Transcript	.	.	ENSG00000182359	22934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious_low_confidence(0)	.	KBTB3_HUMAN	KBTBD3	HGNC	G3V161_HUMAN,E9PKJ3_HUMAN	.	UPI00001BDB79	SNV	KBTBD3,missense_variant,p.Trp606Arg,ENST00000531837,;KBTBD3,missense_variant,p.Trp606Arg,ENST00000526793,;KBTBD3,missense_variant,p.Trp527Arg,ENST00000534815,;KBTBD3,downstream_gene_variant,,ENST00000531482,;KBTBD3,downstream_gene_variant,,ENST00000532662,;	1976	127	113	SUCCESS
SYT8	90019	.	GRCh37	11	1856051	1856051	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	23	0	ENST00000381968.3:c.30+220A>C		p.*10*	ENST00000381968	NM_138567.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7726.2	.	MUTECT|MUSE	.	TGCCCAGGCCC	NONE	.	.	.	.	.	ENSP00000371394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381968	Transcript	.	.	ENSG00000149043	19264	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYT8_HUMAN	SYT8	HGNC	C9K032_HUMAN,C9J253_HUMAN,A6NCR4_HUMAN	.	UPI000066D8CE	SNV	SYT8,5_prime_UTR_variant,,ENST00000341958,;SYT8,intron_variant,,ENST00000430303,;SYT8,intron_variant,,ENST00000417052,;SYT8,intron_variant,,ENST00000381968,;SYT8,intron_variant,,ENST00000535046,;SYT8,intron_variant,,ENST00000436964,;SYT8,intron_variant,,ENST00000381978,;TNNI2,upstream_gene_variant,,ENST00000381911,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381906,;SYT8,upstream_gene_variant,,ENST00000483280,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,intron_variant,,ENST00000475245,;SYT8,intron_variant,,ENST00000479276,;SYT8,intron_variant,,ENST00000464897,;SYT8,intron_variant,,ENST00000479089,;SYT8,upstream_gene_variant,,ENST00000424556,;SYT8,upstream_gene_variant,,ENST00000494431,;SYT8,upstream_gene_variant,,ENST00000482118,;	.	23	9	SUCCESS
FOLH1	2346	.	GRCh37	11	49214430	49214430	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	23	178	0	ENST00000256999.2:c.428T>C	p.Leu143Ser	p.L143S	ENST00000256999	NM_004476.1	143	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS7946.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATAATGAT	NONE	.	.	hmmpanther:PTHR10404:SF36,hmmpanther:PTHR10404,Gene3D:3.50.30.30,Superfamily_domains:SSF52025	.	.	ENSP00000256999	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000256999	Transcript	.	.	ENSG00000086205	3788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.13)	.	FOLH1_HUMAN	FOLH1	HGNC	Q7Z5D2_HUMAN,Q2VPJ0_HUMAN,E9PMK6_HUMAN,E9PKM3_HUMAN	.	UPI0000000A01	SNV	FOLH1,missense_variant,p.Leu128Ser,ENST00000340334,;FOLH1,missense_variant,p.Leu128Ser,ENST00000533034,;FOLH1,missense_variant,p.Leu143Ser,ENST00000256999,;FOLH1,missense_variant,p.Leu143Ser,ENST00000356696,;FOLH1,5_prime_UTR_variant,,ENST00000343844,;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,3_prime_UTR_variant,,ENST00000533510,;FOLH1,non_coding_transcript_exon_variant,,ENST00000529646,;	689	178	135	SUCCESS
OR9G1	390174	.	GRCh37	11	56468502	56468502	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	109	1	ENST00000312153.1:c.639C>T	p.Ile213=	p.I213=	ENST00000312153	NM_001005213.1	213	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31536.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCCTGGC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,synonymous_variant,p.%3D,ENST00000312153,;	639	110	103	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57080662	57080662	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	69	0	ENST00000358252.3:c.1500C>T	p.Ile500=	p.I500=	ENST00000358252	NM_033396.2	500	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7951.1	1500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTGATGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,synonymous_variant,p.%3D,ENST00000532437,;TNKS1BP1,synonymous_variant,p.%3D,ENST00000358252,;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	1812	69	50	SUCCESS
MS4A6E	245802	.	GRCh37	11	60107405	60107405	+	synonymous_variant	Silent	SNP	C	C	T	rs1220736529	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	57	0	ENST00000300182.4:c.421C>T	p.Leu141=	p.L141=	ENST00000300182	NM_139249.2	141	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7984.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCTGCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	.	ENSP00000300182	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000300182	Transcript	.	.	ENSG00000166926	14285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4A6E_HUMAN	MS4A6E	HGNC	H0YD45_HUMAN	.	UPI0000073D4C	SNV	MS4A6E,synonymous_variant,p.%3D,ENST00000300182,;MS4A6E,synonymous_variant,p.%3D,ENST00000532756,;MS4A6E,downstream_gene_variant,,ENST00000530509,;	486	57	33	SUCCESS
TEX40	0	.	GRCh37	11	64070996	64070996	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	61	0	ENST00000328404.6:c.395T>A	p.Met132Lys	p.M132K	ENST00000328404	NM_001039496.1	132	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	.	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACATGCCCC	NONE	.	.	.	.	.	ENSP00000330877	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000328404	Transcript	.	.	ENSG00000219435	19231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.07)	.	TEX40_HUMAN	TEX40	HGNC	F5H186_HUMAN	.	UPI000007117E	SNV	TEX40,missense_variant,p.Met132Lys,ENST00000328404,;TEX40,missense_variant,p.Met90Lys,ENST00000539943,;KCNK4,downstream_gene_variant,,ENST00000538767,;ESRRA,upstream_gene_variant,,ENST00000405666,;ESRRA,upstream_gene_variant,,ENST00000468670,;KCNK4,downstream_gene_variant,,ENST00000422670,;ESRRA,upstream_gene_variant,,ENST00000000442,;KCNK4,downstream_gene_variant,,ENST00000539216,;KCNK4,downstream_gene_variant,,ENST00000394525,;ESRRA,upstream_gene_variant,,ENST00000406310,;ESRRA,upstream_gene_variant,,ENST00000539594,;RP11-783K16.10,non_coding_transcript_exon_variant,,ENST00000539086,;KCNK4,downstream_gene_variant,,ENST00000536690,;KCNK4,downstream_gene_variant,,ENST00000453423,;KCNK4,downstream_gene_variant,,ENST00000541349,;TEX40,upstream_gene_variant,,ENST00000535981,;	415	61	51	SUCCESS
RPLP2	6181	.	GRCh37	11	812569	812569	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	39	0	ENST00000321153.4:c.207G>T	p.Gly69=	p.G69=	ENST00000321153	NM_001004.3	69	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7717.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGGCTGT	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_01478,hmmpanther:PTHR21141,Pfam_domain:PF00428	.	.	ENSP00000322419	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000321153	Transcript	.	.	ENSG00000177600	10377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RLA2_HUMAN	RPLP2	HGNC	.	.	UPI0000134258	SNV	RPLP2,synonymous_variant,p.%3D,ENST00000321153,;RPLP2,synonymous_variant,p.%3D,ENST00000530398,;RPLP2,synonymous_variant,p.%3D,ENST00000530797,;SNORA52,downstream_gene_variant,,ENST00000362915,;RPLP2,non_coding_transcript_exon_variant,,ENST00000532004,;RPLP2,non_coding_transcript_exon_variant,,ENST00000526222,;PIDD,upstream_gene_variant,,ENST00000530911,;PIDD,upstream_gene_variant,,ENST00000534649,;RPLP2,non_coding_transcript_exon_variant,,ENST00000527517,;RPLP2,non_coding_transcript_exon_variant,,ENST00000525722,;PIDD,upstream_gene_variant,,ENST00000534525,;RPLP2,downstream_gene_variant,,ENST00000524867,;	601	39	30	SUCCESS
HSP90B1	7184	.	GRCh37	12	104327962	104327962	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	21	227	0	ENST00000299767.5:c.640A>G	p.Lys214Glu	p.K214E	ENST00000299767	NM_003299.2	214	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9094.1	640	MUTECT|MUSE|VARSCANS	.	CTTCAAAACAC	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF44,Gene3D:3.30.565.10,Pfam_domain:PF13589,PIRSF_domain:PIRSF002583,SMART_domains:SM00387,Superfamily_domains:SSF55874,Prints_domain:PR00775	.	.	ENSP00000299767	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000299767	Transcript	.	.	ENSG00000166598	12028	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ENPL_HUMAN	HSP90B1	HGNC	Q5CAQ5_HUMAN,F8W026_HUMAN,B4DHT9_HUMAN	.	UPI0000129FBA	SNV	HSP90B1,missense_variant,p.Lys214Glu,ENST00000299767,;HSP90B1,downstream_gene_variant,,ENST00000549334,;MIR3652,downstream_gene_variant,,ENST00000579335,;RP11-642P15.1,upstream_gene_variant,,ENST00000548897,;RP11-642P15.1,upstream_gene_variant,,ENST00000388789,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000548462,;HSP90B1,downstream_gene_variant,,ENST00000540297,;HSP90B1,downstream_gene_variant,,ENST00000548622,;HSP90B1,upstream_gene_variant,,ENST00000550479,;	822	227	219	SUCCESS
TAS2R42	353164	.	GRCh37	12	11339508	11339508	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	60	0	ENST00000334266.1:c.36G>A	p.Leu12=	p.L12=	ENST00000334266	NM_181429.1	12	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31747.1	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCAGAAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF39,hmmpanther:PTHR11394	.	.	ENSP00000334050	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334266	Transcript	.	.	ENSG00000186136	18888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R42_HUMAN	TAS2R42	HGNC	Q50KD4_HUMAN	.	UPI0000038B20	SNV	TAS2R42,synonymous_variant,p.%3D,ENST00000334266,;	36	60	72	SUCCESS
DDX11	1663	.	GRCh37	12	31236792	31236792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	116	0	ENST00000545668.1:c.190G>A	p.Asp64Asn	p.D64N	ENST00000545668	NM_001257144.1	64	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44856.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGACTTT	NONE	.	.	PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,Gene3D:3.40.50.300,SMART_domains:SM00488,Superfamily_domains:SSF52540	.	.	ENSP00000384703	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	SNV	DDX11,missense_variant,p.Asp22Asn,ENST00000544652,;DDX11,missense_variant,p.Asp64Asn,ENST00000438391,;DDX11,missense_variant,p.Asp64Asn,ENST00000350437,;DDX11,missense_variant,p.Asp38Asn,ENST00000415475,;DDX11,missense_variant,p.Asp64Asn,ENST00000542838,;DDX11,missense_variant,p.Asp64Asn,ENST00000545668,;DDX11,missense_variant,p.Asp100Asn,ENST00000535317,;DDX11,missense_variant,p.Asp38Asn,ENST00000228264,;DDX11,missense_variant,p.Asp64Asn,ENST00000407793,;DDX11,missense_variant,p.Asp64Asn,ENST00000251758,;DDX11,missense_variant,p.Asp64Asn,ENST00000542244,;DDX11,missense_variant,p.Asp64Asn,ENST00000435753,;DDX11,missense_variant,p.Asp11Asn,ENST00000538345,;DDX11,missense_variant,p.Asp64Asn,ENST00000542129,;DDX11,missense_variant,p.Asp38Asn,ENST00000540935,;DDX11,missense_variant,p.Asp64Asn,ENST00000539049,;DDX11,non_coding_transcript_exon_variant,,ENST00000535158,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,intron_variant,,ENST00000543756,;DDX11,upstream_gene_variant,,ENST00000542242,;DDX11,upstream_gene_variant,,ENST00000543026,;	441	117	117	SUCCESS
SP1	6667	.	GRCh37	12	53775951	53775951	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1456079816	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	53	0	ENST00000327443.4:c.220C>T	p.Pro74Ser	p.P74S	ENST00000327443	NM_138473.2	74	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8857.1	220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCACCCAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23235:SF4,hmmpanther:PTHR23235	.	.	ENSP00000329357	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000327443	Transcript	.	.	ENSG00000185591	11205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious(0.01)	.	SP1_HUMAN	SP1	HGNC	G5E9M8_HUMAN,Q9NR52_HUMAN,H3BVI2_HUMAN,C4PGM0_HUMAN	.	UPI0000135D4E	SNV	SP1,missense_variant,p.Pro67Ser,ENST00000426431,;SP1,missense_variant,p.Pro67Ser,ENST00000548560,;SP1,missense_variant,p.Pro74Ser,ENST00000327443,;SP1,intron_variant,,ENST00000551969,;	318	53	50	SUCCESS
PTPRB	5787	.	GRCh37	12	70928402	70928402	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs906142386	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	102	1	ENST00000261266.5:c.5580C>G	p.Ile1860Met	p.I1860M	ENST00000261266	NM_002837.4	1860	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS44943.1	6234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGATGAG	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000334928	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	deleterious(0.03)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Ile1770Met,ENST00000538708,;PTPRB,missense_variant,p.Ile1860Met,ENST00000261266,;PTPRB,missense_variant,p.Ile2078Met,ENST00000334414,;PTPRB,missense_variant,p.Ile1990Met,ENST00000550358,;PTPRB,missense_variant,p.Ile1770Met,ENST00000451516,;PTPRB,missense_variant,p.Ile1770Met,ENST00000550857,;RP11-588H23.3,intron_variant,,ENST00000547656,;RP11-588H23.3,intron_variant,,ENST00000548687,;RP11-588H23.3,intron_variant,,ENST00000551438,;RP11-588H23.3,intron_variant,,ENST00000546836,;RP11-588H23.3,intron_variant,,ENST00000549460,;PTPRB,downstream_gene_variant,,ENST00000549400,;	6279	103	107	SUCCESS
ING1	3621	.	GRCh37	13	111371917	111371917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	65	223	0	ENST00000375774.3:c.907G>A	p.Glu303Lys	p.E303K	ENST00000375774	NM_005537.4	303	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9517.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTGAGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10333:SF38,hmmpanther:PTHR10333	.	.	ENSP00000364929	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375774	Transcript	.	.	ENSG00000153487	6062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.11)	.	ING1_HUMAN	ING1	HGNC	.	.	UPI000013DD4A	SNV	ING1,missense_variant,p.Glu116Lys,ENST00000338450,;ING1,missense_variant,p.Glu303Lys,ENST00000375774,;ING1,missense_variant,p.Glu160Lys,ENST00000333219,;ING1,missense_variant,p.Glu91Lys,ENST00000375775,;ING1,downstream_gene_variant,,ENST00000464141,;	1369	223	269	SUCCESS
CUL4A	8451	.	GRCh37	13	113882334	113882334	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765677995	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	106	0	ENST00000375440.4:c.413G>T	p.Cys138Phe	p.C138F	ENST00000375440	NM_001008895.2	138	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS41908.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTGCTGGC	NONE	.	.	hmmpanther:PTHR11932:SF68,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788	.	.	ENSP00000364589	.	4/20	.	.	.	.	.	.	.	.	rs765677995	4/20	PASS	ENST00000375440	Transcript	.	.	ENSG00000139842	2554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.06)	.	CUL4A_HUMAN	CUL4A	HGNC	B4DKT2_HUMAN	.	UPI000021C449	SNV	CUL4A,missense_variant,p.Cys38Phe,ENST00000375441,;CUL4A,missense_variant,p.Cys138Phe,ENST00000375440,;CUL4A,missense_variant,p.Cys38Phe,ENST00000326335,;CUL4A,missense_variant,p.Cys38Phe,ENST00000451881,;CUL4A,non_coding_transcript_exon_variant,,ENST00000463426,;CUL4A,non_coding_transcript_exon_variant,,ENST00000498562,;CUL4A,non_coding_transcript_exon_variant,,ENST00000488558,;CUL4A,downstream_gene_variant,,ENST00000494985,;	497	106	101	SUCCESS
ATP12A	479	.	GRCh37	13	25283923	25283923	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	80	0	ENST00000381946.3:c.2720A>T	p.Lys907Met	p.K907M	ENST00000381946		907	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS53858.1	2738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAAGGACT	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Superfamily_domains:0049473	.	.	ENSP00000218548	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.06)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Lys913Met,ENST00000218548,;ATP12A,missense_variant,p.Lys907Met,ENST00000381946,;RPL26P34,upstream_gene_variant,,ENST00000431005,;	3071	80	87	SUCCESS
STARD13	90627	.	GRCh37	13	33704330	33704330	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	38	0	ENST00000336934.5:c.484C>A	p.Leu162Met	p.L162M	ENST00000336934	NM_178006.3	162	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9348.1	484	MUTECT|MUSE	.	GAGCAGCGTGT	NONE	.	.	hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659	.	.	ENSP00000338785	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000336934	Transcript	.	.	ENSG00000133121	19164	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.894)	.	deleterious(0.01)	.	STA13_HUMAN	STARD13	HGNC	B3KT04_HUMAN,B2R789_HUMAN	.	UPI000006226E	SNV	STARD13,missense_variant,p.Leu147Met,ENST00000567873,;STARD13,missense_variant,p.Leu162Met,ENST00000336934,;STARD13,missense_variant,p.Leu154Met,ENST00000255486,;STARD13,missense_variant,p.Leu44Met,ENST00000399365,;	601	38	44	SUCCESS
VWA8	23078	.	GRCh37	13	42385467	42385467	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	108	0	ENST00000379310.3:c.1957T>C	p.Leu653=	p.L653=	ENST00000379310	NM_015058.1	653	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS41881.1	1957	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTAATGATT	NONE	.	.	hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9,Superfamily_domains:SSF52540	.	.	ENSP00000368612	.	17/45	.	.	.	.	.	.	.	.	.	17/45	PASS	ENST00000379310	Transcript	.	.	ENSG00000102763	29071	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VWA8_HUMAN	VWA8	HGNC	.	.	UPI00001606AC	SNV	VWA8,synonymous_variant,p.%3D,ENST00000281496,;VWA8,synonymous_variant,p.%3D,ENST00000379310,;RN7SL515P,downstream_gene_variant,,ENST00000463999,;	2026	108	84	SUCCESS
NUDT15	55270	.	GRCh37	13	48612093	48612093	+	intron_variant	Intron	SNP	A	A	G	rs1249937565	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	102	0	ENST00000258662.2:c.158+53A>G		p.*53*	ENST00000258662	NM_018283.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9407.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AACTCACGCCG	NONE	.	.	.	.	.	ENSP00000258662	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258662	Transcript	.	.	ENSG00000136159	23063	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NUD15_HUMAN	NUDT15	HGNC	.	.	UPI000006EA15	SNV	SUCLA2,5_prime_UTR_variant,,ENST00000543413,;NUDT15,intron_variant,,ENST00000258662,;	.	103	128	SUCCESS
JKAMP	51528	.	GRCh37	14	59953512	59953512	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	16	77	0	ENST00000261247.9:c.86G>A	p.Gly29Glu	p.G29E	ENST00000261247	NM_001098625.1	29	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45116.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGGAGAAT	NONE	.	.	Pfam_domain:PF05571,hmmpanther:PTHR12740,hmmpanther:PTHR12740:SF3	.	.	ENSP00000261247	.	2/7	.	.	.	.	.	.	.	.	COSM956629,COSM956630	2/7	PASS	ENST00000261247	Transcript	.	.	ENSG00000050130	20184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.868)	.	tolerated(0.06)	1,1	JKAMP_HUMAN	JKAMP	HGNC	G3V372_HUMAN	.	UPI00000377AB	SNV	JKAMP,missense_variant,p.Gly29Glu,ENST00000556985,;JKAMP,missense_variant,p.Gly23Glu,ENST00000425728,;JKAMP,missense_variant,p.Gly29Glu,ENST00000261247,;JKAMP,missense_variant,p.Gly37Glu,ENST00000356057,;JKAMP,missense_variant,p.Gly43Glu,ENST00000554271,;JKAMP,missense_variant,p.Gly37Glu,ENST00000554795,;L3HYPDH,upstream_gene_variant,,ENST00000487285,;L3HYPDH,upstream_gene_variant,,ENST00000247194,;L3HYPDH,upstream_gene_variant,,ENST00000481608,;JKAMP,non_coding_transcript_exon_variant,,ENST00000557560,;RP11-701B16.2,intron_variant,,ENST00000554253,;JKAMP,intron_variant,,ENST00000554754,;JKAMP,missense_variant,p.Gly29Glu,ENST00000555491,;JKAMP,non_coding_transcript_exon_variant,,ENST00000553941,;JKAMP,non_coding_transcript_exon_variant,,ENST00000602482,;JKAMP,downstream_gene_variant,,ENST00000553156,;L3HYPDH,upstream_gene_variant,,ENST00000527981,;JKAMP,upstream_gene_variant,,ENST00000554721,;	233	77	89	SUCCESS
FLRT2	23768	.	GRCh37	14	86089391	86089391	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	36	141	0	ENST00000330753.4:c.1533G>A	p.Glu511=	p.E511=	ENST00000330753	NM_013231.4	511	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS9877.1	1533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGGCCAC	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23,PROSITE_profiles:PS50853	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,synonymous_variant,p.%3D,ENST00000330753,;FLRT2,synonymous_variant,p.%3D,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2300	141	143	SUCCESS
TMC3	342125	.	GRCh37	15	81625501	81625501	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	13	121	0	ENST00000359440.5:c.2562T>A	p.Pro854=	p.P854=	ENST00000359440	NM_001080532.1	854	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45324.1	2562	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAGGTTC	BUFFER|p.R857*|c.2569C>T|3	.	.	hmmpanther:PTHR23302:SF35,hmmpanther:PTHR23302	.	.	ENSP00000352413	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000359440	Transcript	.	.	ENSG00000188869	22995	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMC3_HUMAN	TMC3	HGNC	.	.	UPI00006C154A	SNV	TMC3,synonymous_variant,p.%3D,ENST00000359440,;TMC3,synonymous_variant,p.%3D,ENST00000558726,;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560973,;RP11-761I4.3,intron_variant,,ENST00000560851,;TMC3,downstream_gene_variant,,ENST00000559982,;	2698	121	107	SUCCESS
ZSCAN2	54993	.	GRCh37	15	85164886	85164886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	60	0	ENST00000448803.2:c.1460C>A	p.Ser487Tyr	p.S487Y	ENST00000448803	NM_181877.3	487	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS10329.2	1460	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCCAACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF9,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000410198	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000448803	Transcript	.	.	ENSG00000176371	20994	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	ZSCA2_HUMAN	ZSCAN2	HGNC	F8W6Y9_HUMAN,F5H789_HUMAN,F5H2D8_HUMAN,F5H1K4_HUMAN	.	UPI000021D4BC	SNV	ZSCAN2,missense_variant,p.Ser487Tyr,ENST00000546148,;ZSCAN2,missense_variant,p.Ser487Tyr,ENST00000448803,;ZSCAN2,missense_variant,p.Ser337Tyr,ENST00000358472,;ZSCAN2,missense_variant,p.Ser486Tyr,ENST00000327179,;ZSCAN2,intron_variant,,ENST00000538076,;ZSCAN2,intron_variant,,ENST00000485222,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,downstream_gene_variant,,ENST00000540936,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,missense_variant,p.Ser487Tyr,ENST00000540894,;	1752	60	74	SUCCESS
CES4A	283848	.	GRCh37	16	67040705	67040705	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	34	64	0	ENST00000540947.2:c.1315+1409A>C		p.*439*	ENST00000540947	NM_173815.6			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42174.3	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAACTTTG	NONE	.	.	.	.	.	ENSP00000444052	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540947	Transcript	.	.	ENSG00000172824	26741	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EST4A_HUMAN	CES4A	HGNC	.	.	UPI0001E306A2	SNV	CES4A,missense_variant,p.Asn501Thr,ENST00000326686,;CES4A,missense_variant,p.Asn431Thr,ENST00000398354,;CES4A,missense_variant,p.Asn403Thr,ENST00000540579,;CES4A,missense_variant,p.Asn394Thr,ENST00000538199,;CES4A,missense_variant,p.Asn454Thr,ENST00000541479,;CES4A,intron_variant,,ENST00000540947,;CES4A,intron_variant,,ENST00000535696,;CES4A,intron_variant,,ENST00000338718,;CES4A,intron_variant,,ENST00000397205,;CES4A,3_prime_UTR_variant,,ENST00000535543,;CES4A,non_coding_transcript_exon_variant,,ENST00000544478,;CES4A,non_coding_transcript_exon_variant,,ENST00000543561,;CES4A,intron_variant,,ENST00000535948,;CES4A,intron_variant,,ENST00000567587,;CES4A,downstream_gene_variant,,ENST00000544986,;	.	64	52	SUCCESS
CENPT	80152	.	GRCh37	16	67862725	67862725	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	57	0	ENST00000440851.2:c.1302G>A	p.Glu434=	p.E434=	ENST00000440851		434	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS42182.1	1302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCTCTGC	NONE	.	.	Pfam_domain:PF15511,hmmpanther:PTHR14857	.	.	ENSP00000457810	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000562787	Transcript	.	.	ENSG00000102901	25787	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPT_HUMAN	CENPT	HGNC	H3BQ71_HUMAN,H3BMP6_HUMAN	.	UPI00001C1CDE	SNV	CENPT,synonymous_variant,p.%3D,ENST00000562787,;CENPT,synonymous_variant,p.%3D,ENST00000440851,;CENPT,synonymous_variant,p.%3D,ENST00000219172,;CENPT,synonymous_variant,p.%3D,ENST00000564817,;CENPT,downstream_gene_variant,,ENST00000445712,;TSNAXIP1,downstream_gene_variant,,ENST00000415766,;TSNAXIP1,downstream_gene_variant,,ENST00000565148,;CENPT,downstream_gene_variant,,ENST00000565114,;CENPT,downstream_gene_variant,,ENST00000561593,;TSNAXIP1,downstream_gene_variant,,ENST00000431934,;CENPT,downstream_gene_variant,,ENST00000566758,;TSNAXIP1,downstream_gene_variant,,ENST00000388833,;TSNAXIP1,downstream_gene_variant,,ENST00000567852,;TSNAXIP1,downstream_gene_variant,,ENST00000561639,;TSNAXIP1,downstream_gene_variant,,ENST00000561654,;TSNAXIP1,downstream_gene_variant,,ENST00000562321,;CENPT,downstream_gene_variant,,ENST00000564538,;CENPT,downstream_gene_variant,,ENST00000562947,;CENPT,3_prime_UTR_variant,,ENST00000562513,;CENPT,non_coding_transcript_exon_variant,,ENST00000569862,;CENPT,non_coding_transcript_exon_variant,,ENST00000565157,;CENPT,non_coding_transcript_exon_variant,,ENST00000436104,;CENPT,non_coding_transcript_exon_variant,,ENST00000574569,;CENPT,non_coding_transcript_exon_variant,,ENST00000568495,;CENPT,non_coding_transcript_exon_variant,,ENST00000563885,;TSNAXIP1,intron_variant,,ENST00000565558,;CENPT,downstream_gene_variant,,ENST00000562483,;TSNAXIP1,downstream_gene_variant,,ENST00000565339,;CENPT,downstream_gene_variant,,ENST00000562338,;TSNAXIP1,downstream_gene_variant,,ENST00000487120,;CENPT,downstream_gene_variant,,ENST00000566067,;TSNAXIP1,downstream_gene_variant,,ENST00000563363,;TSNAXIP1,downstream_gene_variant,,ENST00000466164,;CENPT,downstream_gene_variant,,ENST00000562462,;CENPT,downstream_gene_variant,,ENST00000565713,;TSNAXIP1,downstream_gene_variant,,ENST00000569504,;CENPT,downstream_gene_variant,,ENST00000568564,;CENPT,downstream_gene_variant,,ENST00000564128,;CENPT,downstream_gene_variant,,ENST00000568069,;TSNAXIP1,downstream_gene_variant,,ENST00000568990,;	1851	57	63	SUCCESS
ST3GAL2	6483	.	GRCh37	16	70432255	70432255	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	73	0	ENST00000342907.2:c.179del	p.Leu60ProfsTer54	p.L60Pfs*54	ENST00000342907	NM_006927.3	60	cTc/cc	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS10890.1	179	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCTGAGGCGC	NONE	.	.	hmmpanther:PTHR13713:SF36,hmmpanther:PTHR13713,PIRSF_domain:PIRSF005557	.	.	ENSP00000377257	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000393640	Transcript	.	.	ENSG00000157350	10863	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIA4B_HUMAN	ST3GAL2	HGNC	.	.	UPI0000001C5C	deletion	ST3GAL2,frameshift_variant,p.Leu60ProfsTer54,ENST00000342907,;ST3GAL2,frameshift_variant,p.Leu60ProfsTer54,ENST00000393640,;RP11-529K1.4,intron_variant,,ENST00000566960,;ST3GAL2,downstream_gene_variant,,ENST00000567586,;ST3GAL2,downstream_gene_variant,,ENST00000561708,;ST3GAL2,downstream_gene_variant,,ENST00000566097,;ST3GAL2,upstream_gene_variant,,ENST00000567822,;	2287	73	94	SUCCESS
ACACA	31	.	GRCh37	17	35486338	35486338	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	39	140	0	ENST00000353139.5:c.5897del	p.Lys1966ArgfsTer10	p.K1966Rfs*10	ENST00000353139	NM_198834.1	1966	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS42302.1	5897	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGTCTTTGTG	NONE	.	.	PROSITE_profiles:PS50989,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Gene3D:3.90.226.10,Pfam_domain:PF01039,Superfamily_domains:SSF52096	.	.	ENSP00000344789	.	47/56	.	.	.	.	.	.	.	.	.	47/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	deletion	ACACA,frameshift_variant,p.Lys581ArgfsTer10,ENST00000591119,;ACACA,frameshift_variant,p.Lys1871ArgfsTer10,ENST00000360679,;ACACA,frameshift_variant,p.Lys1966ArgfsTer10,ENST00000353139,;ACACA,frameshift_variant,p.Lys1929ArgfsTer10,ENST00000394406,;ACACA,frameshift_variant,p.Lys1851ArgfsTer10,ENST00000335166,;ACACA,frameshift_variant,p.Lys55ArgfsTer10,ENST00000361253,;ACACA,3_prime_UTR_variant,,ENST00000587233,;	6379	140	164	SUCCESS
RPL19	6143	.	GRCh37	17	37357506	37357506	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774934686	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	46	0	ENST00000225430.4:c.46C>T	p.Arg16Cys	p.R16C	ENST00000225430	NM_000981.3	16	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS42312.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCGCTGT	NONE	byFrequency	.	HAMAP:MF_01475,hmmpanther:PTHR10722,PROSITE_patterns:PS00526,Pfam_domain:PF01280,Gene3D:1vq8P01,Superfamily_domains:0037541	.	.	ENSP00000225430	.	2/6	.	.	.	.	.	.	.	.	rs774934686	2/6	PASS	ENST00000225430	Transcript	.	.	ENSG00000108298	10312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.13)	.	RL19_HUMAN	RPL19	HGNC	Q8IWR8_HUMAN,J3KTE4_HUMAN	.	UPI00000289B2	SNV	RPL19,missense_variant,p.Arg16Cys,ENST00000225430,;RPL19,missense_variant,p.Arg36Cys,ENST00000585199,;RPL19,missense_variant,p.Arg14Cys,ENST00000579260,;RPL19,missense_variant,p.Arg13Cys,ENST00000579374,;RPL19,missense_variant,p.Arg14Cys,ENST00000582193,;CACNB1,upstream_gene_variant,,ENST00000344140,;CACNB1,upstream_gene_variant,,ENST00000394303,;CACNB1,upstream_gene_variant,,ENST00000394310,;RPL19,non_coding_transcript_exon_variant,,ENST00000580333,;RPL19,upstream_gene_variant,,ENST00000577741,;RPL19,upstream_gene_variant,,ENST00000577759,;	108	46	61	SUCCESS
HOXB7	3217	.	GRCh37	17	46687930	46687930	+	synonymous_variant	Silent	SNP	G	G	A	rs2228185	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	35	148	0	ENST00000239165.7:c.351C>T	p.Asp117=	p.D117=	ENST00000239165	NM_004502.3	117	gaC/gaT	0	A:0.0057	A:0.0068	.	A:0	.	A	D	protein_coding	YES	CCDS11532.1	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAGTCCGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF129	A:0	A:0	ENSP00000239165	A:0	1/2	.	.	.	.	.	.	.	.	rs2228185	1/2	PASS	ENST00000239165	Transcript	.	A:0.0018	ENSG00000260027	5118	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,synonymous_variant,p.%3D,ENST00000239165,;HOXB8,downstream_gene_variant,,ENST00000468443,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB8,downstream_gene_variant,,ENST00000576562,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,intron_variant,,ENST00000567101,;HOXB7,upstream_gene_variant,,ENST00000467314,;	450	148	162	SUCCESS
ABCC3	8714	.	GRCh37	17	48746279	48746279	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	73	0	ENST00000285238.8:c.1936A>C	p.Ser646Arg	p.S646R	ENST00000285238	NM_003786.3	646	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS32681.1	1936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACAGGTAC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00005,Superfamily_domains:SSF52540	.	.	ENSP00000285238	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	tolerated(0.7)	.	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Ser646Arg,ENST00000285238,;ABCC3,upstream_gene_variant,,ENST00000513745,;ABCC3,downstream_gene_variant,,ENST00000427699,;ABCC3,intron_variant,,ENST00000503304,;ABCC3,downstream_gene_variant,,ENST00000513589,;ABCC3,upstream_gene_variant,,ENST00000506464,;ABCC3,missense_variant,p.Ser646Arg,ENST00000505699,;ABCC3,splice_region_variant,,ENST00000502426,;ABCC3,upstream_gene_variant,,ENST00000510633,;ABCC3,downstream_gene_variant,,ENST00000571855,;ABCC3,downstream_gene_variant,,ENST00000515070,;	2016	73	80	SUCCESS
TRIM25	7706	.	GRCh37	17	54991360	54991360	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	52	0	ENST00000316881.4:c.-11C>T		p.*4*	ENST00000316881	NM_005082.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11591.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGGGGTC	NONE	.	.	.	.	.	ENSP00000323889	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000316881	Transcript	.	.	ENSG00000121060	12932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI25_HUMAN	TRIM25	HGNC	.	.	UPI00001AE6B8	SNV	TRIM25,5_prime_UTR_variant,,ENST00000316881,;TRIM25,5_prime_UTR_variant,,ENST00000537230,;TRIM25,upstream_gene_variant,,ENST00000574997,;TRIM25,upstream_gene_variant,,ENST00000572021,;	40	52	66	SUCCESS
AXIN2	8313	.	GRCh37	17	63537650	63537650	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	104	1	ENST00000307078.5:c.982G>A	p.Gly328Ser	p.G328S	ENST00000307078	NM_004655.3	328	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS11662.1	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCCACAC	NONE	.	.	hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	.	ENSP00000302625	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	deleterious(0.01)	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,missense_variant,p.Gly328Ser,ENST00000375702,;AXIN2,missense_variant,p.Gly328Ser,ENST00000307078,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;AXIN2,upstream_gene_variant,,ENST00000578251,;	1296	105	114	SUCCESS
EXOC7	23265	.	GRCh37	17	74093950	74093950	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs117225564	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	58	117	0	ENST00000335146.7:c.567G>T	p.Glu189Asp	p.E189D	ENST00000335146		189	gaG/gaT	0	.	T:0	.	T:0	.	A	E/D	protein_coding	YES	CCDS45782.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCTCCAG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF74788,hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	T:0.001	.	ENSP00000334100	T:0	5/20	.	.	.	.	.	.	.	.	rs117225564	5/20	PASS	ENST00000335146	Transcript	.	T:0.0002	ENSG00000182473	23214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	T:0	tolerated(0.09)	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,missense_variant,p.Glu189Asp,ENST00000332065,;EXOC7,missense_variant,p.Glu189Asp,ENST00000335146,;EXOC7,missense_variant,p.Glu148Asp,ENST00000467929,;EXOC7,missense_variant,p.Glu74Asp,ENST00000420116,;EXOC7,missense_variant,p.Glu189Asp,ENST00000411744,;EXOC7,missense_variant,p.Glu189Asp,ENST00000589210,;EXOC7,missense_variant,p.Glu189Asp,ENST00000405575,;EXOC7,missense_variant,p.Glu189Asp,ENST00000607838,;EXOC7,missense_variant,p.Glu144Asp,ENST00000357231,;EXOC7,downstream_gene_variant,,ENST00000589507,;EXOC7,downstream_gene_variant,,ENST00000442951,;EXOC7,downstream_gene_variant,,ENST00000406660,;EXOC7,non_coding_transcript_exon_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000592559,;	621	117	136	SUCCESS
TP53	7157	.	GRCh37	17	7577095	7577095	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1057519984	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	35	83	0	ENST00000269305.4:c.843C>G	p.Asp281Glu	p.D281E	ENST00000269305	NM_001126112.2	281	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS11118.1	843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGGTCTCT	SITE|p.D281E|c.843C>G|20,CODON|p.0?|c.1_1182del1182|6,CODON|p.R282W|c.843_844CC>TT|10,CODON|p.D281D|c.843C>T|5,CODON|p.D281E|c.843C>A|3,CODON|p.D281E|c.843C>A|3,CODON|p.D281E|c.843C>A|12,CODON|p.D281V|c.842A>T|5,CODON|p.D281G|c.842A>G|10,BUFFER|p.E285V|c.854A>T|3,BUFFER|p.E285G|c.854A>G|4,BUFFER|p.E285V|c.854A>T|17,BUFFER|p.E285V|c.854A>T|4,BUFFER|p.E285K|c.853G>A|19,BUFFER|p.E285*|c.853G>T|5,BUFFER|p.E285K|c.853G>A|114,BUFFER|p.E285*|c.853G>T|9,BUFFER|p.E285Q|c.853G>C|4,BUFFER|p.E285*|c.853G>T|25,BUFFER|p.E285K|c.853G>A|5,BUFFER|p.E285K|c.853G>A|9,BUFFER|p.T284T|c.852A>T|3,BUFFER|p.T284A|c.850A>G|3,BUFFER|p.T284P|c.850A>C|8,BUFFER|p.R283fs*62|c.847delC|3,BUFFER|p.R283P|c.848G>C|4,BUFFER|p.R283H|c.848G>A|12,BUFFER|p.R283L|c.848G>T|4,BUFFER|p.R283P|c.848G>C|24,BUFFER|p.R283C|c.847C>T|19,BUFFER|p.R282R|c.846G>A|4,BUFFER|p.R282Q|c.845G>A|5,BUFFER|p.R282Q|c.845G>A|26,BUFFER|p.R282L|c.845G>T|3,BUFFER|p.R282Q|c.845G>A|3,BUFFER|p.R282P|c.845G>C|17,BUFFER|p.R282G|c.844C>G|5,BUFFER|p.R282W|c.844C>T|49,BUFFER|p.R282G|c.844C>G|3,BUFFER|p.R282R|c.844C>A|3,BUFFER|p.R282W|c.844C>T|86,BUFFER|p.R282G|c.844C>G|29,BUFFER|p.R282W|c.844C>T|450,BUFFER|p.R282W|c.844C>T|58,BUFFER|p.D281H|c.841G>C|6,BUFFER|p.D281H|c.841G>C|28,BUFFER|p.D281H|c.841G>C|3,BUFFER|p.D281H|c.841G>C|4,BUFFER|p.D281Y|c.841G>T|7,BUFFER|p.D281N|c.841G>A|7,BUFFER|p.D281N|c.841G>A|3,BUFFER|p.D281Y|c.841G>T|13,BUFFER|p.D281Y|c.841G>T|4,BUFFER|p.D281N|c.841G>A|27,BUFFER|p.R280R|c.840A>G|3,BUFFER|p.R280S|c.840A>T|11,BUFFER|p.R280S|c.840A>C|6,BUFFER|p.R280T|c.839G>C|63,BUFFER|p.R280T|c.839G>C|4,BUFFER|p.R280I|c.839G>T|17,BUFFER|p.R280K|c.839G>A|17,BUFFER|p.R280K|c.839G>A|6,BUFFER|p.R280I|c.839G>T|4,BUFFER|p.R280K|c.839G>A|57,BUFFER|p.R280I|c.839G>T|3,BUFFER|p.R280T|c.839G>C|10,BUFFER|p.R280K|c.839G>A|11,BUFFER|p.R280*|c.838A>T|12,BUFFER|p.R280G|c.838A>G|6,BUFFER|p.R280G|c.838A>G|3,BUFFER|p.R280G|c.838A>G|23,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279E|c.836G>A|4,BUFFER|p.G279E|c.836G>A|34,BUFFER|p.G279V|c.836G>T|3,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13823C>A,TP53_g.13823C>T,TP53_g.13823C>G,COSM43906,COSM43837,COSM43958,COSM562342,COSM1324810,COSM3378340,COSM1649343,COSM1740369	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.971)	.	deleterious(0.01)	0,0,0,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Asp281Glu,ENST00000420246,;TP53,missense_variant,p.Asp281Glu,ENST00000269305,;TP53,missense_variant,p.Asp149Glu,ENST00000509690,;TP53,missense_variant,p.Asp281Glu,ENST00000359597,;TP53,missense_variant,p.Asp281Glu,ENST00000445888,;TP53,missense_variant,p.Asp281Glu,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1033	83	56	SUCCESS
FASN	2194	.	GRCh37	17	80050789	80050793	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTG	ATCTG	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	ATCTG	ATCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	88	0	ENST00000306749.2:c.758_762del	p.Thr253ArgfsTer31	p.T253Rfs*31	ENST00000306749	NM_004104.4	253	aCAGAT/a	0	.	.	.	.	.	-	TD/X	protein_coding	YES	CCDS11801.1	758-762	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGCCATCTGTATTG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	6/43	.	.	.	.	.	.	.	.	.	6/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	deletion	FASN,frameshift_variant,p.Thr253ArgfsTer31,ENST00000306749,;	977-981	88	89	SUCCESS
SPIRE1	56907	.	GRCh37	18	12464951	12464951	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1295574292	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	35	0	ENST00000409402.4:c.1411A>G	p.Thr471Ala	p.T471A	ENST00000409402	NM_001128626.1	471	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS45829.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGTTTCTT	NONE	.	.	hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000387266	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000409402	Transcript	.	.	ENSG00000134278	30622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.87)	.	SPIR1_HUMAN	SPIRE1	HGNC	Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN	.	UPI00001C1FFE	SNV	SPIRE1,missense_variant,p.Thr471Ala,ENST00000409402,;SPIRE1,missense_variant,p.Thr457Ala,ENST00000410092,;SPIRE1,missense_variant,p.Thr298Ala,ENST00000383356,;SPIRE1,missense_variant,p.Thr260Ala,ENST00000309836,;SPIRE1,missense_variant,p.Thr337Ala,ENST00000453447,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000464481,;SPIRE1,missense_variant,p.Thr298Ala,ENST00000440472,;SPIRE1,intron_variant,,ENST00000592156,;	1679	35	39	SUCCESS
FAM210A	125228	.	GRCh37	18	13681644	13681644	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	43	172	0	ENST00000322247.3:c.433T>A	p.Ser145Thr	p.S145T	ENST00000322247	NM_001098801.1	145	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS11866.1	433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGAAGTTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21377,hmmpanther:PTHR21377:SF1,Pfam_domain:PF06916	.	.	ENSP00000323635	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000322247	Transcript	.	.	ENSG00000177150	28346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F210A_HUMAN	FAM210A	HGNC	K7ERQ2_HUMAN,K7EK00_HUMAN	.	UPI000006D5B2	SNV	FAM210A,missense_variant,p.Ser145Thr,ENST00000402563,;FAM210A,missense_variant,p.Ser145Thr,ENST00000591269,;FAM210A,missense_variant,p.Ser145Thr,ENST00000322247,;FAM210A,missense_variant,p.Ser145Thr,ENST00000592976,;FAM210A,non_coding_transcript_exon_variant,,ENST00000588475,;FAM210A,intron_variant,,ENST00000585785,;	821	172	149	SUCCESS
RALBP1	10928	.	GRCh37	18	9535711	9535711	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1156806829	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	97	0	ENST00000019317.4:c.1744G>A	p.Glu582Lys	p.E582K	ENST00000019317		582	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS11845.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGAGGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12783	.	.	ENSP00000019317	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000019317	Transcript	.	.	ENSG00000017797	9841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.05)	.	RBP1_HUMAN	RALBP1	HGNC	Q59E87_HUMAN,J3QLT3_HUMAN,E7ENF8_HUMAN	.	UPI00000703A3	SNV	RALBP1,missense_variant,p.Glu582Lys,ENST00000383432,;RALBP1,missense_variant,p.Glu582Lys,ENST00000019317,;	1967	97	83	SUCCESS
KEAP1	9817	.	GRCh37	19	10610330	10610330	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	74	0	ENST00000171111.5:c.380del	p.Gly127ValfsTer30	p.G127Vfs*30	ENST00000171111	NM_203500.1	127	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS12239.1	380	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGATACCCTCA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	deletion	KEAP1,frameshift_variant,p.Gly127ValfsTer30,ENST00000591419,;KEAP1,frameshift_variant,p.Gly127ValfsTer30,ENST00000591039,;KEAP1,frameshift_variant,p.Gly127ValfsTer30,ENST00000393623,;KEAP1,frameshift_variant,p.Gly127ValfsTer30,ENST00000171111,;KEAP1,frameshift_variant,p.Gly127ValfsTer30,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	928	74	103	SUCCESS
PGLYRP2	114770	.	GRCh37	19	15586526	15586526	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs768862271	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	76	0	ENST00000340880.4:c.955del	p.Arg319AspfsTer8	p.R319Dfs*8	ENST00000340880	NM_052890.3	319	Cga/ga	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS12330.2	955	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCGTCGGAAGT	NONE	byFrequency	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF13	.	.	ENSP00000345968	.	2/5	.	.	.	.	.	.	.	.	rs768862271	2/5	PASS	ENST00000340880	Transcript	.	.	ENSG00000161031	30013	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGRP2_HUMAN	PGLYRP2	HGNC	M0R2W8_HUMAN,M0QYW3_HUMAN	.	UPI000004EEA6	deletion	PGLYRP2,frameshift_variant,p.Arg319AspfsTer8,ENST00000340880,;PGLYRP2,frameshift_variant,p.Arg319AspfsTer8,ENST00000292609,;PGLYRP2,downstream_gene_variant,,ENST00000594637,;PGLYRP2,downstream_gene_variant,,ENST00000601792,;	1436	76	80	SUCCESS
TPGS1	91978	.	GRCh37	19	519039	519039	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	56	0	ENST00000359315.5:c.489G>A	p.Pro163=	p.P163=	ENST00000359315	NM_033513.2	163	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42454.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCTGCT	NONE	.	.	hmmpanther:PTHR31932	.	.	ENSP00000352265	.	2/2	.	.	.	.	.	.	.	.	COSM3389269	2/2	PASS	ENST00000359315	Transcript	.	.	ENSG00000141933	25058	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TPGS1_HUMAN	TPGS1	HGNC	.	.	UPI0000202E14	SNV	TPGS1,synonymous_variant,p.%3D,ENST00000359315,;	697	56	45	SUCCESS
LILRA2	11027	.	GRCh37	19	55086934	55086934	+	synonymous_variant	Silent	SNP	C	C	T	rs756841843	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	39	147	0	ENST00000251377.3:c.867C>T	p.His289=	p.H289=	ENST00000251377		289	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS46179.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACGGGGG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251377	.	6/9	.	.	.	.	.	.	.	.	rs756841843	6/9	PASS	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,synonymous_variant,p.%3D,ENST00000251376,;LILRA2,synonymous_variant,p.%3D,ENST00000391738,;LILRA2,synonymous_variant,p.%3D,ENST00000391737,;LILRA2,synonymous_variant,p.%3D,ENST00000439534,;LILRA2,synonymous_variant,p.%3D,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	1000	147	129	SUCCESS
GTF2F1	2962	.	GRCh37	19	6387475	6387475	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	57	88	0	ENST00000394456.5:c.422A>G	p.His141Arg	p.H141R	ENST00000394456	NM_002096.2	141	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12165.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGTGCACG	NONE	.	.	hmmpanther:PTHR13011,Pfam_domain:PF05793,Superfamily_domains:SSF50916	.	.	ENSP00000377969	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000394456	Transcript	.	.	ENSG00000125651	4652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.22)	.	T2FA_HUMAN	GTF2F1	HGNC	M0R0Z3_HUMAN	.	UPI000007323F	SNV	GTF2F1,missense_variant,p.His201Arg,ENST00000595047,;GTF2F1,missense_variant,p.His141Arg,ENST00000394456,;GTF2F1,intron_variant,,ENST00000593678,;GTF2F1,intron_variant,,ENST00000429701,;GTF2F1,downstream_gene_variant,,ENST00000598607,;CTB-180A7.6,intron_variant,,ENST00000599584,;	887	88	83	SUCCESS
LPPR3	0	.	GRCh37	19	815228	815228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	35	53	0	ENST00000520876.3:c.361T>C	p.Cys121Arg	p.C121R	ENST00000520876	NM_001270366.1	121	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS12043.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCAGCCGC	NONE	.	.	hmmpanther:PTHR10165:SF14,hmmpanther:PTHR10165,Gene3D:1.20.144.10	.	.	ENSP00000352962	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000359894	Transcript	.	.	ENSG00000129951	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	.	LPPR3	Uniprot_gn	K7ELK5_HUMAN	.	UPI00000730B6	SNV	LPPR3,missense_variant,p.Cys121Arg,ENST00000520876,;LPPR3,missense_variant,p.Cys121Arg,ENST00000519502,;LPPR3,missense_variant,p.Cys121Arg,ENST00000359894,;PTBP1,downstream_gene_variant,,ENST00000349038,;PTBP1,downstream_gene_variant,,ENST00000394601,;PTBP1,downstream_gene_variant,,ENST00000356948,;PTBP1,downstream_gene_variant,,ENST00000350092,;LPPR3,upstream_gene_variant,,ENST00000517665,;MIR3187,downstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000585856,;	425	53	52	SUCCESS
MUC16	94025	.	GRCh37	19	9089258	9089258	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	64	98	0	ENST00000397910.4:c.2557T>A	p.Ser853Thr	p.S853T	ENST00000397910	NM_024690.2	853	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54212.1	2557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGATGAAG	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser853Thr,ENST00000397910,;	2761	98	92	SUCCESS
AP4B1-AS1	100287722	.	GRCh37	1	114443767	114443767	+	non_coding_transcript_exon_variant	RNA	DEL	C	C	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	45	0	ENST00000419536.1:n.1645del		p.*549*	ENST00000419536				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS865.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTACCCCAC	NONE	.	.	.	.	.	ENSP00000358582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369569	Transcript	.	.	ENSG00000134262	572	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP4B1_HUMAN	AP4B1	HGNC	B1ALD2_HUMAN	.	UPI0000072F63	deletion	AP4B1,intron_variant,,ENST00000432415,;AP4B1,intron_variant,,ENST00000256658,;AP4B1,intron_variant,,ENST00000369564,;AP4B1,intron_variant,,ENST00000369569,;AP4B1,intron_variant,,ENST00000369567,;AP4B1,intron_variant,,ENST00000369571,;AP4B1,intron_variant,,ENST00000369566,;DCLRE1B,upstream_gene_variant,,ENST00000369563,;AP4B1-AS1,non_coding_transcript_exon_variant,,ENST00000419536,;AP4B1,intron_variant,,ENST00000489092,;AP4B1,intron_variant,,ENST00000489499,;AP4B1,intron_variant,,ENST00000484201,;AP4B1,intron_variant,,ENST00000472122,;AP4B1,upstream_gene_variant,,ENST00000479801,;AP4B1,upstream_gene_variant,,ENST00000479285,;AP4B1,upstream_gene_variant,,ENST00000460653,;AP4B1,upstream_gene_variant,,ENST00000462591,;DCLRE1B,upstream_gene_variant,,ENST00000466480,;	.	45	96	SUCCESS
SSU72	29101	.	GRCh37	1	1500211	1500211	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	31	90	0	ENST00000291386.3:c.166del	p.Asp56IlefsTer52	p.D56Ifs*52	ENST00000291386	NM_014188.2	56	Gat/at	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS32.1	166	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAATCATAAA	NONE	.	.	hmmpanther:PTHR20383,hmmpanther:PTHR20383:SF11,Pfam_domain:PF04722	.	.	ENSP00000291386	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000291386	Transcript	.	.	ENSG00000160075	25016	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SSU72_HUMAN	SSU72	HGNC	.	.	UPI00000437EE	deletion	SSU72,frameshift_variant,p.Asp56IlefsTer77,ENST00000359060,;SSU72,frameshift_variant,p.Asp56IlefsTer52,ENST00000291386,;SSU72,non_coding_transcript_exon_variant,,ENST00000378725,;AL645728.2,upstream_gene_variant,,ENST00000539195,;	478	90	121	SUCCESS
SLAMF6	114836	.	GRCh37	1	160493038	160493038	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	22	99	0	ENST00000368057.3:c.-56G>A		p.*19*	ENST00000368057				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53394.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCTTCTG	NONE	.	.	.	.	.	ENSP00000357036	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000368057	Transcript	.	.	ENSG00000162739	21392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLAF6_HUMAN	SLAMF6	HGNC	.	.	UPI0000051E34	SNV	SLAMF6,5_prime_UTR_variant,,ENST00000368057,;SLAMF6,5_prime_UTR_variant,,ENST00000368059,;SLAMF6,upstream_gene_variant,,ENST00000368055,;	6	99	109	SUCCESS
ITLN1	55600	.	GRCh37	1	160849202	160849202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	29	76	0	ENST00000326245.3:c.688G>A	p.Glu230Lys	p.E230K	ENST00000326245	NM_017625.2	230	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1211.1	688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCCCCTG	NONE	.	.	hmmpanther:PTHR16146:SF38,hmmpanther:PTHR16146,Superfamily_domains:SSF56496	.	.	ENSP00000323587	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000326245	Transcript	.	.	ENSG00000179914	18259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0.04)	.	ITLN1_HUMAN	ITLN1	HGNC	.	.	UPI0000032AA3	SNV	ITLN1,missense_variant,p.Glu230Lys,ENST00000326245,;ITLN1,splice_region_variant,,ENST00000487531,;ITLN1,downstream_gene_variant,,ENST00000464077,;	804	76	91	SUCCESS
RGS5	8490	.	GRCh37	1	163117258	163117258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	48	108	0	ENST00000313961.5:c.420G>T	p.Met140Ile	p.M140I	ENST00000313961	NM_003617.3	140	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS58041.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCATTGT	NONE	.	.	Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,hmmpanther:PTHR10845,Gene3D:1.10.167.10,hmmpanther:PTHR10845:SF42,PROSITE_profiles:PS50132	.	.	ENSP00000433001	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000530507	Transcript	.	.	ENSG00000143248	10001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	RGS5_HUMAN	RGS5	HGNC	.	.	UPI0001F78466	SNV	RGS5,missense_variant,p.Met32Ile,ENST00000527988,;RGS5,missense_variant,p.Met160Ile,ENST00000367903,;RGS5,missense_variant,p.Met140Ile,ENST00000313961,;RGS5,missense_variant,p.Met144Ile,ENST00000530507,;RGS5,intron_variant,,ENST00000469495,;RGS5,downstream_gene_variant,,ENST00000531954,;	500	108	142	SUCCESS
PBX1	5087	.	GRCh37	1	164769105	164769105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	100	0	ENST00000420696.2:c.680G>A	p.Arg227His	p.R227H	ENST00000420696	NM_002585.3	227	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS1246.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTTCCC	NONE	.	.	Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58	.	.	ENSP00000405890	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	deleterious(0.01)	.	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,missense_variant,p.Arg155His,ENST00000559578,;PBX1,missense_variant,p.Arg227His,ENST00000540236,;PBX1,missense_variant,p.Arg227His,ENST00000559240,;PBX1,missense_variant,p.Arg122His,ENST00000560641,;PBX1,missense_variant,p.Arg227His,ENST00000367897,;PBX1,missense_variant,p.Arg122His,ENST00000558837,;PBX1,missense_variant,p.Arg227His,ENST00000420696,;PBX1,missense_variant,p.Arg122His,ENST00000540246,;PBX1,missense_variant,p.Arg122His,ENST00000482110,;PBX1,missense_variant,p.Arg227His,ENST00000401534,;PBX1,downstream_gene_variant,,ENST00000559560,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;	868	100	97	SUCCESS
ASTN1	460	.	GRCh37	1	176837963	176837963	+	intron_variant	Intron	SNP	C	C	A	rs745813800	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	55	132	1	ENST00000361833.2:c.3647+17G>T		p.*1216*	ENST00000361833				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1319.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGACTTAGT	NONE	byFrequency	.	.	.	.	ENSP00000354536	.	.	.	.	.	.	.	.	.	.	rs745813800	.	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODIFIER	22/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,3_prime_UTR_variant,,ENST00000424564,;ASTN1,intron_variant,,ENST00000367654,;ASTN1,intron_variant,,ENST00000361833,;ASTN1,intron_variant,,ENST00000367657,;	.	133	149	SUCCESS
TPR	7175	.	GRCh37	1	186304629	186304629	+	synonymous_variant	Silent	SNP	C	C	T	rs1415846009	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	87	0	ENST00000367478.4:c.4752G>A	p.Arg1584=	p.R1584=	ENST00000367478	NM_003292.2	1584	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS41446.1	4752	RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCCTTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898	.	.	ENSP00000356448	.	34/51	.	.	.	.	.	.	.	.	.	34/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,synonymous_variant,p.%3D,ENST00000367478,;TPR,downstream_gene_variant,,ENST00000481347,;	5049	87	68	SUCCESS
ASPM	259266	.	GRCh37	1	197065148	197065148	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	72	0	ENST00000367409.4:c.8967T>C	p.Tyr2989=	p.Y2989=	ENST00000367409	NM_018136.4	2989	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS1389.1	8967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTATAGAA	NONE	.	.	hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069,Superfamily_domains:SSF52540	.	.	ENSP00000356379	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,synonymous_variant,p.%3D,ENST00000367409,;ASPM,synonymous_variant,p.%3D,ENST00000367408,;ASPM,synonymous_variant,p.%3D,ENST00000294732,;	9224	72	101	SUCCESS
NUAK2	81788	.	GRCh37	1	205277742	205277742	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	85	0	ENST00000367157.3:c.471G>T	p.Arg157=	p.R157=	ENST00000367157	NM_030952.1	157	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1453.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCCGGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF133,hmmpanther:PTHR24343,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356125	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000367157	Transcript	.	.	ENSG00000163545	29558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUAK2_HUMAN	NUAK2	HGNC	Q68E04_HUMAN,B4E0Y5_HUMAN	.	UPI0000037D77	SNV	NUAK2,synonymous_variant,p.%3D,ENST00000367157,;	598	85	112	SUCCESS
OR14A16	284532	.	GRCh37	1	247978833	247978833	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	42	187	0	ENST00000357627.1:c.199T>A	p.Leu67Met	p.L67M	ENST00000357627	NM_001001966.1	67	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS31097.1	199	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAGAAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000350248	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.899)	.	deleterious(0.01)	.	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	SNV	OR14A16,missense_variant,p.Leu67Met,ENST00000357627,;	199	187	260	SUCCESS
OR11L1	391189	.	GRCh37	1	248004235	248004235	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	41	96	1	ENST00000355784.2:c.964T>C	p.Tyr322His	p.Y322H	ENST00000355784	NM_001001959.1	322	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31098.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATAAAGGA	NONE	.	.	.	.	.	ENSP00000348033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355784	Transcript	.	.	ENSG00000197591	14998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	O11L1_HUMAN	OR11L1	HGNC	.	.	UPI0000061EBC	SNV	OR11L1,missense_variant,p.Tyr322His,ENST00000355784,;	1020	97	113	SUCCESS
RPS6KA1	6195	.	GRCh37	1	26900660	26900660	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	53	0	ENST00000374168.2:c.2176C>A	p.Arg726=	p.R726=	ENST00000374168	NM_002953.3	726	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS30649.1	2203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGCGAGTG	NONE	.	.	hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351,PIRSF_domain:PIRSF000606	.	.	ENSP00000435412	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000531382	Transcript	.	.	ENSG00000117676	10430	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KS6A1_HUMAN	RPS6KA1	HGNC	E9PMM7_HUMAN	.	UPI000046D37A	SNV	RPS6KA1,synonymous_variant,p.%3D,ENST00000530003,;RPS6KA1,synonymous_variant,p.%3D,ENST00000374162,;RPS6KA1,synonymous_variant,p.%3D,ENST00000374168,;RPS6KA1,synonymous_variant,p.%3D,ENST00000438977,;RPS6KA1,synonymous_variant,p.%3D,ENST00000374166,;RPS6KA1,synonymous_variant,p.%3D,ENST00000531382,;RPS6KA1,synonymous_variant,p.%3D,ENST00000526792,;RPS6KA1,downstream_gene_variant,,ENST00000403732,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,downstream_gene_variant,,ENST00000530305,;RPS6KA1,downstream_gene_variant,,ENST00000531113,;	2252	53	42	SUCCESS
MACF1	23499	.	GRCh37	1	39797752	39797752	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs112594324	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	87	0	ENST00000372915.3:c.5507A>C	p.Asp1836Ala	p.D1836A	ENST00000372915		1836	gAt/gCt	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGATCTAG	NONE	byFrequency	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	rs112594324	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Asp271Ala,ENST00000289893,;MACF1,missense_variant,p.Asp1831Ala,ENST00000564288,;MACF1,missense_variant,p.Asp1836Ala,ENST00000372915,;MACF1,missense_variant,p.Asp1868Ala,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;MACF1,downstream_gene_variant,,ENST00000496804,;	.	87	79	SUCCESS
STIL	6491	.	GRCh37	1	47746604	47746604	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	48	119	0	ENST00000360380.3:c.1526C>T	p.Pro509Leu	p.P509L	ENST00000360380	NM_001282936.1	509	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41329.1	1526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGGTGGC	NONE	.	.	hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0	.	.	ENSP00000360944	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.87)	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	SNV	STIL,missense_variant,p.Pro509Leu,ENST00000337817,;STIL,missense_variant,p.Pro509Leu,ENST00000396221,;STIL,missense_variant,p.Pro509Leu,ENST00000243182,;STIL,missense_variant,p.Pro462Leu,ENST00000447475,;STIL,missense_variant,p.Pro509Leu,ENST00000371877,;STIL,missense_variant,p.Pro509Leu,ENST00000360380,;STIL,intron_variant,,ENST00000436811,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;	1674	119	115	SUCCESS
CD93	22918	.	GRCh37	20	23065729	23065729	+	synonymous_variant	Silent	SNP	G	G	A	rs201414606	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	117	176	0	ENST00000246006.4:c.1101C>T	p.Cys367=	p.C367=	ENST00000246006	NM_012072.3	367	tgC/tgT	0	.	A:0	.	A:0.0014	.	A	C	protein_coding	YES	CCDS13149.1	1101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGCAGCG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	A:0	.	ENSP00000246006	A:0	1/2	.	.	.	.	.	.	.	.	rs201414606	1/2	PASS	ENST00000246006	Transcript	.	A:0.0002	ENSG00000125810	15855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	C1QR1_HUMAN	CD93	HGNC	.	.	UPI00001273BC	SNV	CD93,synonymous_variant,p.%3D,ENST00000246006,;AL118508.1,upstream_gene_variant,,ENST00000539654,;	1249	176	190	SUCCESS
RPN2	6185	.	GRCh37	20	35812641	35812641	+	synonymous_variant	Silent	SNP	G	G	T	rs781556628	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	22	127	0	ENST00000237530.6:c.72G>T	p.Thr24=	p.T24=	ENST00000237530	NM_002951.3	24	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13291.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGCCCAC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12640:SF0,hmmpanther:PTHR12640,Pfam_domain:PF05817	.	.	ENSP00000237530	.	2/17	.	.	.	.	.	.	.	.	rs781556628	2/17	PASS	ENST00000237530	Transcript	.	.	ENSG00000118705	10382	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPN2_HUMAN	RPN2	HGNC	.	.	UPI0000000C52	SNV	RPN2,synonymous_variant,p.%3D,ENST00000373632,;RPN2,synonymous_variant,p.%3D,ENST00000237530,;RPN2,synonymous_variant,p.%3D,ENST00000373622,;RPN2,5_prime_UTR_variant,,ENST00000456102,;MROH8,upstream_gene_variant,,ENST00000343811,;MROH8,upstream_gene_variant,,ENST00000400441,;MROH8,upstream_gene_variant,,ENST00000421643,;MROH8,upstream_gene_variant,,ENST00000441008,;MROH8,upstream_gene_variant,,ENST00000434295,;MROH8,upstream_gene_variant,,ENST00000400440,;RPN2,5_prime_UTR_variant,,ENST00000462163,;	383	127	134	SUCCESS
EMILIN3	90187	.	GRCh37	20	39992390	39992390	+	synonymous_variant	Silent	SNP	C	C	A	rs753229547	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	20	115	0	ENST00000332312.3:c.402G>T	p.Thr134=	p.T134=	ENST00000332312	NM_052846.1	134	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13316.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCGTGAG	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF2	.	.	ENSP00000332806	.	3/4	.	.	.	.	.	.	.	.	rs753229547,COSM187560	3/4	PASS	ENST00000332312	Transcript	.	.	ENSG00000183798	16123	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	EMIL3_HUMAN	EMILIN3	HGNC	Q495S5_HUMAN	.	UPI00001D82E8	SNV	EMILIN3,synonymous_variant,p.%3D,ENST00000332312,;LPIN3,downstream_gene_variant,,ENST00000373257,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	595	115	118	SUCCESS
PTPRT	11122	.	GRCh37	20	40827954	40827954	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	13	124	0	ENST00000373198.4:c.2474A>T	p.Lys825Ile	p.K825I	ENST00000373198	NM_133170.3	825	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS42874.1	2417	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTTTGTCG	BUFFER|p.D827N|c.2479G>A|3	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	.	ENSP00000362283	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.084)	.	deleterious(0.01)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Lys796Ile,ENST00000373201,;PTPRT,missense_variant,p.Lys815Ile,ENST00000356100,;PTPRT,missense_variant,p.Lys825Ile,ENST00000373198,;PTPRT,missense_variant,p.Lys809Ile,ENST00000373193,;PTPRT,missense_variant,p.Lys796Ile,ENST00000373184,;PTPRT,missense_variant,p.Lys806Ile,ENST00000373190,;PTPRT,missense_variant,p.Lys806Ile,ENST00000373187,;	2417	124	112	SUCCESS
NCOA5	57727	.	GRCh37	20	44692024	44692024	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	23	33	0	ENST00000290231.6:c.1125G>A	p.Met375Ile	p.M375I	ENST00000290231	NM_020967.2	375	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13392.1	1125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCATCAG	NONE	.	.	hmmpanther:PTHR23295:SF3,hmmpanther:PTHR23295	.	.	ENSP00000290231	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000290231	Transcript	.	.	ENSG00000124160	15909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.16)	.	NCOA5_HUMAN	NCOA5	HGNC	Q5JY17_HUMAN	.	UPI000000D7B2	SNV	NCOA5,missense_variant,p.Met375Ile,ENST00000290231,;NCOA5,downstream_gene_variant,,ENST00000372291,;SLC12A5,downstream_gene_variant,,ENST00000243964,;	1290	33	40	SUCCESS
SYCP2	10388	.	GRCh37	20	58489238	58489238	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	10	125	0	ENST00000357552.3:c.703C>T	p.Leu235=	p.L235=	ENST00000357552		235	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13482.1	703	MUTECT|MUSE	.	TGCCAGTTCTT	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	11/45	.	.	.	.	.	.	.	.	.	11/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,synonymous_variant,p.%3D,ENST00000446834,;SYCP2,synonymous_variant,p.%3D,ENST00000357552,;SYCP2,synonymous_variant,p.%3D,ENST00000371001,;SYCP2,non_coding_transcript_exon_variant,,ENST00000471331,;SYCP2,upstream_gene_variant,,ENST00000461538,;	929	125	149	SUCCESS
CHGB	1114	.	GRCh37	20	5903753	5903754	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	181	27	142	0	ENST00000378961.4:c.967dup	p.Glu323GlyfsTer18	p.E323Gfs*18	ENST00000378961	NM_001819.2	321	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS13092.1	963-964	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTTTAGGGGA	NONE	.	.	Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583	.	.	ENSP00000368244	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000378961	Transcript	.	.	ENSG00000089199	1930	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCG1_HUMAN	CHGB	HGNC	.	.	UPI000013C63D	insertion	CHGB,frameshift_variant,p.Glu323GlyfsTer18,ENST00000378961,;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	1167-1168	142	208	SUCCESS
SRMS	6725	.	GRCh37	20	62172284	62172284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	41	0	ENST00000217188.1:c.1354C>T	p.Pro452Ser	p.P452S	ENST00000217188	NM_080823.2	452	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS13525.1	1354	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGGGCAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF23,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000217188	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000217188	Transcript	.	.	ENSG00000125508	11298	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.136)	.	tolerated(0.13)	.	SRMS_HUMAN	SRMS	HGNC	.	.	UPI000004F1F3	SNV	SRMS,missense_variant,p.Pro452Ser,ENST00000217188,;PTK6,upstream_gene_variant,,ENST00000217185,;PTK6,upstream_gene_variant,,ENST00000542869,;	1395	41	44	SUCCESS
BCRP2	400892	.	GRCh37	22	21470354	21470354	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	71	0	ENST00000461808.1:n.284+64G>A		p.*95*	ENST00000461808				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGTCAGT	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000420508	Transcript	.	.	ENSG00000197210	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KB-1592A4.15	Clone_based_vega_gene	.	.	.	SNV	KB-1592A4.15,non_coding_transcript_exon_variant,,ENST00000420508,;BCRP2,intron_variant,,ENST00000461808,;BCRP2,upstream_gene_variant,,ENST00000398241,;BCRP2,non_coding_transcript_exon_variant,,ENST00000447763,;	3375	71	58	SUCCESS
LIF	3976	.	GRCh37	22	30640879	30640879	+	synonymous_variant	Silent	SNP	C	C	T	rs368278663	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	5	114	0	ENST00000249075.3:c.63G>A	p.Ala21=	p.A21=	ENST00000249075	NM_002309.4	21	gcG/gcA	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS13872.1	63	MUTECT|MUSE	.	CTCCCCGCCCC	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,Prints_domain:PR01883,hmmpanther:PTHR10633	.	T:0.0002	ENSP00000249075	.	2/3	.	.	.	.	.	.	.	.	rs368278663	2/3	PASS	ENST00000249075	Transcript	.	.	ENSG00000128342	6596	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIF_HUMAN	LIF	HGNC	.	.	UPI000002C08D	SNV	LIF,synonymous_variant,p.%3D,ENST00000249075,;LIF,intron_variant,,ENST00000403987,;RP1-102K2.8,upstream_gene_variant,,ENST00000608354,;RP1-102K2.8,upstream_gene_variant,,ENST00000593843,;RP1-102K2.6,downstream_gene_variant,,ENST00000447565,;	219	114	118	SUCCESS
PRR14L	253143	.	GRCh37	22	32108268	32108268	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767249771	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	87	167	0	ENST00000327423.6:c.5557A>G	p.Met1853Val	p.M1853V	ENST00000327423	NM_173566.2	1853	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS13900.2	5557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATGAAGA	NONE	.	.	hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0	.	.	ENSP00000331845	.	4/9	.	.	.	.	.	.	.	.	rs767249771	4/9	PASS	ENST00000327423	Transcript	.	.	ENSG00000183530	28738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	tolerated(0.11)	.	PR14L_HUMAN	PRR14L	HGNC	C9J9V0_HUMAN	.	UPI0000207582	SNV	PRR14L,missense_variant,p.Met1853Val,ENST00000434485,;PRR14L,missense_variant,p.Met1853Val,ENST00000397493,;PRR14L,missense_variant,p.Met156Val,ENST00000330495,;PRR14L,missense_variant,p.Met1853Val,ENST00000327423,;PRR14L,non_coding_transcript_exon_variant,,ENST00000492705,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,missense_variant,p.Met522Val,ENST00000431684,;	5747	168	205	SUCCESS
IMP4	92856	.	GRCh37	2	131103253	131103253	+	synonymous_variant	Silent	SNP	C	C	T	rs201275845	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	61	0	ENST00000259239.3:c.420C>T	p.His140=	p.H140=	ENST00000259239	NM_033416.1	140	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS2160.1	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCACGAGCA	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR22734,hmmpanther:PTHR22734:SF2,Pfam_domain:PF04427,Gene3D:1w94A00,SMART_domains:SM00879,Superfamily_domains:SSF52954	.	.	ENSP00000259239	.	5/9	.	.	.	.	.	.	.	.	rs201275845	5/9	PASS	ENST00000259239	Transcript	.	.	ENSG00000136718	30856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMP4_HUMAN	IMP4	HGNC	Q3ZTT3_HUMAN,B9A008_HUMAN	.	UPI0000071F26	SNV	IMP4,synonymous_variant,p.%3D,ENST00000259239,;IMP4,synonymous_variant,p.%3D,ENST00000428740,;IMP4,synonymous_variant,p.%3D,ENST00000409649,;IMP4,synonymous_variant,p.%3D,ENST00000452955,;IMP4,synonymous_variant,p.%3D,ENST00000409935,;CCDC115,upstream_gene_variant,,ENST00000409127,;CCDC115,upstream_gene_variant,,ENST00000437688,;CCDC115,upstream_gene_variant,,ENST00000259229,;IMP4,3_prime_UTR_variant,,ENST00000456713,;IMP4,non_coding_transcript_exon_variant,,ENST00000462357,;IMP4,non_coding_transcript_exon_variant,,ENST00000477375,;IMP4,non_coding_transcript_exon_variant,,ENST00000460766,;IMP4,non_coding_transcript_exon_variant,,ENST00000462392,;IMP4,non_coding_transcript_exon_variant,,ENST00000490895,;IMP4,non_coding_transcript_exon_variant,,ENST00000464432,;IMP4,non_coding_transcript_exon_variant,,ENST00000473689,;IMP4,non_coding_transcript_exon_variant,,ENST00000460100,;IMP4,upstream_gene_variant,,ENST00000475074,;IMP4,downstream_gene_variant,,ENST00000470672,;CCDC115,upstream_gene_variant,,ENST00000442217,;CCDC115,upstream_gene_variant,,ENST00000465315,;IMP4,downstream_gene_variant,,ENST00000495606,;	1128	61	57	SUCCESS
FAM168B	130074	.	GRCh37	2	131812878	131812878	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	94	0	ENST00000389915.3:c.442A>T	p.Met148Leu	p.M148L	ENST00000389915		148	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS42755.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGCCCA	NONE	.	.	Pfam_domain:PF14944,hmmpanther:PTHR31844:SF2,hmmpanther:PTHR31844,Low_complexity_(Seg):seg	.	.	ENSP00000387051	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000409185	Transcript	.	.	ENSG00000152102	27016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.743)	.	deleterious_low_confidence(0.03)	.	F168B_HUMAN	FAM168B	HGNC	.	.	UPI0000160B21	SNV	FAM168B,missense_variant,p.Met148Leu,ENST00000409185,;FAM168B,missense_variant,p.Met148Leu,ENST00000389915,;	550	94	73	SUCCESS
PKP4	8502	.	GRCh37	2	159481723	159481723	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	113	0	ENST00000389759.3:c.937G>A	p.Gly313Arg	p.G313R	ENST00000389759	NM_003628.3	313	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS33305.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGGGGTCC	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8	.	.	ENSP00000374409	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000389759	Transcript	.	.	ENSG00000144283	9026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0)	.	PKP4_HUMAN	PKP4	HGNC	Q53TM5_HUMAN	.	UPI000044D379	SNV	PKP4,missense_variant,p.Gly313Arg,ENST00000389759,;PKP4,missense_variant,p.Gly313Arg,ENST00000389757,;PKP4,downstream_gene_variant,,ENST00000462335,;PKP4,stop_gained,p.Trp163Ter,ENST00000481115,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,3_prime_UTR_variant,,ENST00000421462,;PKP4,downstream_gene_variant,,ENST00000457109,;	1049	113	103	SUCCESS
TANC1	85461	.	GRCh37	2	160027239	160027239	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1175001379	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	114	215	1	ENST00000263635.6:c.1274C>T	p.Ser425Phe	p.S425F	ENST00000263635	NM_033394.2	425	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS42766.1	1274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCCAAGT	NONE	.	.	hmmpanther:PTHR24166:SF23,hmmpanther:PTHR24166	.	.	ENSP00000263635	.	10/27	.	.	.	.	.	.	.	.	COSM3568235	10/27	PASS	ENST00000263635	Transcript	.	.	ENSG00000115183	29364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	1	TANC1_HUMAN	TANC1	HGNC	.	.	UPI0000421D80	SNV	TANC1,missense_variant,p.Ser425Phe,ENST00000263635,;TANC1,missense_variant,p.Ser319Phe,ENST00000454300,;	1511	216	233	SUCCESS
MLTK	0	.	GRCh37	2	174047653	174047653	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759664582	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	163	406	1	ENST00000375213.3:c.319A>G	p.Ile107Val	p.I107V	ENST00000375213	NM_016653.2	107	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS42777.1	319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACATTATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000364361	.	4/20	.	.	.	.	.	.	.	.	rs759664582	4/20	PASS	ENST00000375213	Transcript	.	.	ENSG00000091436	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(0.21)	.	MLTK_HUMAN	MLTK	Uniprot_gn	C9J3F7_HUMAN	.	UPI0000073F69	SNV	MLTK,missense_variant,p.Ile107Val,ENST00000409176,;MLTK,missense_variant,p.Ile107Val,ENST00000422149,;MLTK,missense_variant,p.Ile6Val,ENST00000431503,;MLTK,missense_variant,p.Ile107Val,ENST00000375213,;MLTK,missense_variant,p.Ile107Val,ENST00000338983,;MLTK,missense_variant,p.Ile107Val,ENST00000539448,;MLK7-AS1,intron_variant,,ENST00000419609,;MLK7-AS1,intron_variant,,ENST00000422703,;MLTK,non_coding_transcript_exon_variant,,ENST00000468408,;MLTK,non_coding_transcript_exon_variant,,ENST00000480606,;MLTK,non_coding_transcript_exon_variant,,ENST00000476618,;	397	407	410	SUCCESS
SCRN3	79634	.	GRCh37	2	175292518	175292518	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	302	115	381	0	ENST00000272732.6:c.1170A>G	p.Gln390=	p.Q390=	ENST00000272732	NM_024583.4	390	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS2258.1	1170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAAAACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF18	.	.	ENSP00000272732	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000272732	Transcript	.	.	ENSG00000144306	30382	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRN3_HUMAN	SCRN3	HGNC	H9KVC8_HUMAN,F8W0M9_HUMAN,C9JNS3_HUMAN,C9JID8_HUMAN	.	UPI00002090F8	SNV	SCRN3,synonymous_variant,p.%3D,ENST00000272732,;SCRN3,synonymous_variant,p.%3D,ENST00000409673,;GPR155,downstream_gene_variant,,ENST00000392552,;SCRN3,non_coding_transcript_exon_variant,,ENST00000475928,;SCRN3,non_coding_transcript_exon_variant,,ENST00000549848,;SCRN3,non_coding_transcript_exon_variant,,ENST00000548921,;SCRN3,downstream_gene_variant,,ENST00000490927,;SCRN3,3_prime_UTR_variant,,ENST00000548868,;SCRN3,3_prime_UTR_variant,,ENST00000437944,;	1252	381	417	SUCCESS
DNAH7	56171	.	GRCh37	2	196619135	196619135	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747213434	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	142	0	ENST00000312428.6:c.11690C>A	p.Thr3897Lys	p.T3897K	ENST00000312428	NM_018897.2	3897	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS42794.1	11690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGTGTAT	NONE	byFrequency	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000311273	.	63/65	.	.	.	.	.	.	.	.	rs747213434	63/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.36)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Thr380Lys,ENST00000409063,;DNAH7,missense_variant,p.Thr3897Lys,ENST00000312428,;DNAH7,intron_variant,,ENST00000438565,;	11791	142	135	SUCCESS
NRP2	8828	.	GRCh37	2	206562324	206562324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757131491	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	133	0	ENST00000360409.3:c.130G>A	p.Gly44Ser	p.G44S	ENST00000360409	NM_003872.2	44	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS2364.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGTTAC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF30,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF036960,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000353582	.	2/17	.	.	.	.	.	.	.	.	rs757131491	2/17	PASS	ENST00000360409	Transcript	.	.	ENSG00000118257	8005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	NRP2_HUMAN	NRP2	HGNC	C9JH98_HUMAN	.	UPI000014020F	SNV	NRP2,missense_variant,p.Gly44Ser,ENST00000360409,;NRP2,missense_variant,p.Gly44Ser,ENST00000357118,;NRP2,missense_variant,p.Gly44Ser,ENST00000355117,;NRP2,missense_variant,p.Gly44Ser,ENST00000540178,;NRP2,missense_variant,p.Gly44Ser,ENST00000357785,;NRP2,missense_variant,p.Gly44Ser,ENST00000540841,;NRP2,missense_variant,p.Gly44Ser,ENST00000417189,;NRP2,missense_variant,p.Gly44Ser,ENST00000412873,;NRP2,missense_variant,p.Gly44Ser,ENST00000450507,;NRP2,missense_variant,p.Gly44Ser,ENST00000272849,;NRP2,non_coding_transcript_exon_variant,,ENST00000464003,;NRP2,non_coding_transcript_exon_variant,,ENST00000478013,;NRP2,non_coding_transcript_exon_variant,,ENST00000483917,;	921	133	106	SUCCESS
APOB	338	.	GRCh37	2	21256268	21256268	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	71	0	ENST00000233242.1:c.1027C>T	p.Gln343Ter	p.Q343*	ENST00000233242	NM_000384.2	343	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1703.1	1027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGGATAT	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642	.	.	ENSP00000233242	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,stop_gained,p.Gln343Ter,ENST00000233242,;APOB,stop_gained,p.Gln343Ter,ENST00000399256,;	1155	71	57	SUCCESS
TRIP12	9320	.	GRCh37	2	230656743	230656743	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	124	238	1	ENST00000283943.5:c.4029G>A	p.Arg1343=	p.R1343=	ENST00000283943	NM_004238.1	1343	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33391.1	4029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCTGTG	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	28/41	.	.	.	.	.	.	.	.	.	28/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000470302,;TRIP12,non_coding_transcript_exon_variant,,ENST00000495322,;TRIP12,downstream_gene_variant,,ENST00000461189,;	4208	239	282	SUCCESS
COPG1	22820	.	GRCh37	3	128991702	128991702	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	31	182	0	ENST00000314797.6:c.2211C>T	p.Pro737=	p.P737=	ENST00000314797	NM_016128.3	737	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33851.1	2211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCACCAC	NONE	.	.	Superfamily_domains:SSF49348,PIRSF_domain:PIRSF037093,Pfam_domain:PF08752,Gene3D:1r4xA01,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	.	ENSP00000325002	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,synonymous_variant,p.%3D,ENST00000314797,;COPG1,synonymous_variant,p.%3D,ENST00000509889,;COPG1,synonymous_variant,p.%3D,ENST00000514478,;COPG1,non_coding_transcript_exon_variant,,ENST00000512034,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;	2315	183	155	SUCCESS
SLCO2A1	6578	.	GRCh37	3	133674014	133674014	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148547180	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	72	0	ENST00000310926.4:c.421G>A	p.Glu141Lys	p.E141K	ENST00000310926	NM_005630.2	141	Gag/Aag	0	T:0.0002	.	.	.	.	T	E/K	protein_coding	YES	CCDS3084.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCGGCCT	NONE	byCluster	.	Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS50850	.	T:0	ENSP00000311291	.	4/14	.	.	.	.	.	.	.	.	rs148547180,COSM445627,COSM3392064	4/14	PASS	ENST00000310926	Transcript	.	.	ENSG00000174640	10955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.024)	.	tolerated(0.08)	0,1,1	SO2A1_HUMAN	SLCO2A1	HGNC	Q4LEJ9_HUMAN	.	UPI000013F0AD	SNV	SLCO2A1,missense_variant,p.Glu141Lys,ENST00000310926,;SLCO2A1,intron_variant,,ENST00000493729,;SLCO2A1,downstream_gene_variant,,ENST00000478651,;SLCO2A1,missense_variant,p.Glu141Lys,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000464676,;SLCO2A1,intron_variant,,ENST00000462770,;	695	72	76	SUCCESS
PLCL2	23228	.	GRCh37	3	17051428	17051429	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	160	36	179	0	ENST00000418129.2:c.218dup	p.Asn73LysfsTer12	p.N73Kfs*12	ENST00000418129	NM_001144382.1	71	gga/ggAa	0	.	.	.	.	.	A	G/GX	protein_coding	YES	CCDS33713.1	212-213	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAGGAAAAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF84,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000409637	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000418129	Transcript	.	.	ENSG00000154822	9064	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCL2_HUMAN	PLCL2	HGNC	.	.	UPI0000141145	insertion	PLCL2,frameshift_variant,p.Asn73LysfsTer12,ENST00000396755,;PLCL2,frameshift_variant,p.Asn73LysfsTer12,ENST00000432376,;PLCL2,frameshift_variant,p.Asn73LysfsTer12,ENST00000418129,;PLCL2,upstream_gene_variant,,ENST00000419842,;PLCL2,non_coding_transcript_exon_variant,,ENST00000460467,;	677-678	179	196	SUCCESS
MUC4	4585	.	GRCh37	3	195507945	195507945	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	33	221	0	ENST00000463781.3:c.10506C>A	p.Thr3502=	p.T3502=	ENST00000463781	NM_018406.6	3502	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54700.1	10506	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGGTGTC	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	10966	221	182	SUCCESS
MUC4	4585	.	GRCh37	3	195507946	195507946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	32	220	0	ENST00000463781.3:c.10505C>A	p.Thr3502Asn	p.T3502N	ENST00000463781	NM_018406.6	3502	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54700.1	10505	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGTGTCA	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.704)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Thr3502Asn,ENST00000463781,;MUC4,missense_variant,p.Thr3502Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Thr3502Asn,ENST00000470451,;MUC4,missense_variant,p.Thr3502Asn,ENST00000477086,;MUC4,missense_variant,p.Thr3502Asn,ENST00000466475,;MUC4,missense_variant,p.Thr3502Asn,ENST00000478156,;MUC4,missense_variant,p.Thr3502Asn,ENST00000479406,;MUC4,missense_variant,p.Thr3502Asn,ENST00000477756,;MUC4,missense_variant,p.Thr3502Asn,ENST00000462323,;MUC4,missense_variant,p.Thr3502Asn,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	10965	220	180	SUCCESS
EPM2AIP1	9852	.	GRCh37	3	37034022	37034022	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	90	0	ENST00000322716.5:c.547G>A	p.Ala183Thr	p.A183T	ENST00000322716	NM_014805.3	183	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46790.1	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCCTGGT	NONE	.	.	hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697	.	.	ENSP00000406027	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322716	Transcript	.	.	ENSG00000178567	19735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	tolerated(1)	.	EPMIP_HUMAN	EPM2AIP1	HGNC	.	.	UPI0000073486	SNV	EPM2AIP1,missense_variant,p.Ala183Thr,ENST00000322716,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000231790,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000456676,;MLH1,upstream_gene_variant,,ENST00000539477,;MLH1,upstream_gene_variant,,ENST00000458205,;MLH1,upstream_gene_variant,,ENST00000435176,;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000442249,;MLH1,upstream_gene_variant,,ENST00000454028,;	774	90	58	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	32	152	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	152	129	SUCCESS
TRAK1	22906	.	GRCh37	3	42265035	42265035	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs546729861	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	34	85	0	ENST00000327628.5:c.2668G>T	p.Val890Leu	p.V890L	ENST00000327628	NM_001042646.2	890	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS43072.1	2668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGTACCT	NONE	.	.	hmmpanther:PTHR15751:SF11,hmmpanther:PTHR15751	.	.	ENSP00000328998	.	16/16	.	.	.	.	.	.	.	.	rs546729861	16/16	PASS	ENST00000327628	Transcript	.	.	ENSG00000182606	29947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.35)	.	TRAK1_HUMAN	TRAK1	HGNC	.	.	UPI0000139F52	SNV	TRAK1,missense_variant,p.Val832Leu,ENST00000396175,;TRAK1,missense_variant,p.Val890Leu,ENST00000327628,;RNU4-78P,downstream_gene_variant,,ENST00000410940,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;	3068	85	62	SUCCESS
SLC26A6	65010	.	GRCh37	3	48667324	48667324	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373135262	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	73	284	1	ENST00000395550.2:c.1510G>T	p.Val504Leu	p.V504L	ENST00000395550		504	Gtg/Ttg	0	T:0	.	.	.	.	A	V/L	protein_coding	YES	CCDS43087.1	1510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCACGAGCA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF18,TIGRFAM_domain:TIGR00815	.	T:0.0001	ENSP00000378920	.	13/21	.	.	.	.	.	.	.	.	rs373135262	13/21	PASS	ENST00000395550	Transcript	.	.	ENSG00000225697	14472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	deleterious(0.01)	.	S26A6_HUMAN	SLC26A6	HGNC	Q9Y3Y1_HUMAN	.	UPI0000135460	SNV	SLC26A6,missense_variant,p.Val468Leu,ENST00000455886,;SLC26A6,missense_variant,p.Val483Leu,ENST00000358747,;SLC26A6,missense_variant,p.Val504Leu,ENST00000383733,;SLC26A6,missense_variant,p.Val504Leu,ENST00000420764,;SLC26A6,missense_variant,p.Val504Leu,ENST00000395550,;SLC26A6,missense_variant,p.Val397Leu,ENST00000337000,;SLC26A6,downstream_gene_variant,,ENST00000421649,;SLC26A6,downstream_gene_variant,,ENST00000426599,;SLC26A6,downstream_gene_variant,,ENST00000431739,;SLC26A6,downstream_gene_variant,,ENST00000482282,;SLC26A6,3_prime_UTR_variant,,ENST00000307364,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000480524,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000496469,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000489483,;SLC26A6,downstream_gene_variant,,ENST00000431213,;SLC26A6,upstream_gene_variant,,ENST00000466257,;SLC26A6,downstream_gene_variant,,ENST00000414944,;SLC26A6,upstream_gene_variant,,ENST00000462009,;SLC26A6,downstream_gene_variant,,ENST00000444531,;SLC26A6,upstream_gene_variant,,ENST00000469693,;SLC26A6,downstream_gene_variant,,ENST00000485361,;SLC26A6,downstream_gene_variant,,ENST00000494717,;	1558	285	268	SUCCESS
CADPS	8618	.	GRCh37	3	62860452	62860452	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	27	0	ENST00000383710.4:c.253G>A	p.Gly85Ser	p.G85S	ENST00000383710	NM_003716.3	85	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS46858.1	253	MUTECT|MUSE	.	GCCGCCAGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(1)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Gly85Ser,ENST00000357948,;CADPS,missense_variant,p.Gly85Ser,ENST00000283269,;CADPS,missense_variant,p.Gly85Ser,ENST00000383710,;CADPS,missense_variant,p.Gly85Ser,ENST00000490353,;	603	27	28	SUCCESS
FAM19A1	0	.	GRCh37	3	68466449	68466449	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	10	116	0	ENST00000478136.1:c.138G>A	p.Val46=	p.V46=	ENST00000478136	NM_213609.3	46	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54606.1	138	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGATAGC	NONE	.	.	hmmpanther:PTHR31770,hmmpanther:PTHR31770:SF2,Pfam_domain:PF12020	.	.	ENSP00000418575	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000478136	Transcript	.	.	ENSG00000183662	21587	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F19A1_HUMAN	FAM19A1	HGNC	.	.	UPI00001B3DB2	SNV	FAM19A1,synonymous_variant,p.%3D,ENST00000496687,;FAM19A1,synonymous_variant,p.%3D,ENST00000478136,;FAM19A1,non_coding_transcript_exon_variant,,ENST00000491017,;	628	116	100	SUCCESS
ROBO2	6092	.	GRCh37	3	77671422	77671422	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376068100	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	70	115	1	ENST00000461745.1:c.3599C>A	p.Pro1200Gln	p.P1200Q	ENST00000461745	NM_002942.4	1200	cCg/cAg	0	T:0.0003	.	.	.	.	A	P/Q	protein_coding	YES	CCDS54609.1	3647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCGTTAG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489	.	T:0	ENSP00000417335	.	24/27	.	.	.	.	.	.	.	.	rs376068100,COSM1425403,COSM1538714,COSM1425404,COSM1538715	24/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	possibly_damaging(0.884)	.	deleterious(0)	0,1,1,1,1	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Pro1200Gln,ENST00000332191,;ROBO2,missense_variant,p.Pro1200Gln,ENST00000461745,;ROBO2,missense_variant,p.Pro32Gln,ENST00000475334,;ROBO2,missense_variant,p.Pro1216Gln,ENST00000487694,;ROBO2,downstream_gene_variant,,ENST00000490991,;ROBO2,downstream_gene_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	3926	116	136	SUCCESS
MTHFD2P1	100287639	.	GRCh37	3	95374424	95374424	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	27	0	ENST00000494840.1:n.1438A>T		p.*480*	ENST00000494840				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCATTGCAG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000494840	Transcript	.	.	ENSG00000244681	48859	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MTHFD2P1	HGNC	.	.	.	SNV	MTHFD2P1,non_coding_transcript_exon_variant,,ENST00000494840,;MTHFD2P1,non_coding_transcript_exon_variant,,ENST00000489784,;	1438	27	31	SUCCESS
ANK2	287	.	GRCh37	4	114208800	114208800	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	75	0	ENST00000357077.4:c.2119A>C	p.Lys707Gln	p.K707Q	ENST00000357077	NM_001148.4	707	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS3702.1	2119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATAAAGTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000349588	.	19/46	.	.	.	.	.	.	.	.	.	19/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Lys686Gln,ENST00000506722,;ANK2,missense_variant,p.Lys686Gln,ENST00000503271,;ANK2,missense_variant,p.Lys707Gln,ENST00000264366,;ANK2,missense_variant,p.Lys653Gln,ENST00000503423,;ANK2,missense_variant,p.Lys707Gln,ENST00000394537,;ANK2,missense_variant,p.Lys707Gln,ENST00000357077,;ANK2,missense_variant,p.Lys722Gln,ENST00000504454,;	2172	75	37	SUCCESS
STK32B	55351	.	GRCh37	4	5461929	5461929	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773060917	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	89	0	ENST00000282908.5:c.883G>A	p.Ala295Thr	p.A295T	ENST00000282908	NM_018401.1	295	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3380.1	883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGCACTG	NONE	byFrequency	.	hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,Superfamily_domains:SSF56112	.	.	ENSP00000282908	.	9/12	.	.	.	.	.	.	.	.	rs773060917,COSM271544	9/12	PASS	ENST00000282908	Transcript	.	.	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.019)	.	tolerated(0.13)	0,1	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.Ala248Thr,ENST00000510398,;STK32B,missense_variant,p.Ala218Thr,ENST00000512636,;STK32B,missense_variant,p.Ala295Thr,ENST00000282908,;RN7SKP275,upstream_gene_variant,,ENST00000364626,;STK32B,non_coding_transcript_exon_variant,,ENST00000508728,;STK32B,non_coding_transcript_exon_variant,,ENST00000505508,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	1305	89	61	SUCCESS
NAP1L5	266812	.	GRCh37	4	89618757	89618768	+	inframe_deletion	In_Frame_Del	DEL	TGACCAGCCGCG	TGACCAGCCGCG	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	TGACCAGCCGCG	TGACCAGCCGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	8	30	66	0	ENST00000323061.5:c.138_149del	p.Ser46_Gln50delinsArg	p.S46_Q50delinsR	ENST00000323061	NM_153757.2	46	agCGCGGCTGGTCAg/agg	0	.	.	.	.	.	-	SAAGQ/R	protein_coding	YES	CCDS3632.1	138-149	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCATCTGACCAGCCGCGCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11875:SF35,hmmpanther:PTHR11875	.	.	ENSP00000320488	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323061	Transcript	.	.	ENSG00000177432	19968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NP1L5_HUMAN	NAP1L5	HGNC	.	.	UPI000004A03B	deletion	NAP1L5,inframe_deletion,p.Ser46_Gln50delinsArg,ENST00000323061,;HERC3,intron_variant,,ENST00000402738,;HERC3,intron_variant,,ENST00000543130,;HERC3,intron_variant,,ENST00000264345,;	619-630	66	38	SUCCESS
PCDHA5	56143	.	GRCh37	5	140202784	140202784	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143689350	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	32	183	1	ENST00000529859.1:c.1424C>T	p.Thr475Met	p.T475M	ENST00000529859	NM_018908.2	475	aCg/aTg	0	A:0.0036	A:0.0053	.	A:0	.	T	T/M	protein_coding	YES	CCDS54917.1	1424	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACGGTGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	A:0	A:0	ENSP00000436557	A:0	1/4	.	.	.	.	.	.	.	.	rs143689350	1/4	PASS	ENST00000529859	Transcript	.	A:0.0014	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	A:0	deleterious_low_confidence(0)	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Thr475Met,ENST00000529619,;PCDHA5,missense_variant,p.Thr475Met,ENST00000378126,;PCDHA5,missense_variant,p.Thr475Met,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	1424	184	146	SUCCESS
FBXL7	23194	.	GRCh37	5	15928473	15928473	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	61	104	0	ENST00000504595.1:c.602A>T	p.Asp201Val	p.D201V	ENST00000504595	NM_012304.4	201	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS54833.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGACCGAG	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.08)	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Asp189Val,ENST00000329673,;FBXL7,missense_variant,p.Asp154Val,ENST00000510662,;FBXL7,missense_variant,p.Asp201Val,ENST00000504595,;	1083	104	130	SUCCESS
C5orf47	133491	.	GRCh37	5	173416302	173416302	+	synonymous_variant	Silent	SNP	G	G	A	rs1368493033	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	106	0	ENST00000340147.6:c.36G>A	p.Ser12=	p.S12=	ENST00000340147	NM_001144954.1	12	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47343.1	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGGCGCG	NONE	.	.	.	.	.	ENSP00000340887	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000340147	Transcript	.	.	ENSG00000185056	27026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE047_HUMAN	C5orf47	HGNC	.	.	UPI00001603F7	SNV	C5orf47,synonymous_variant,p.%3D,ENST00000340147,;C5orf47,intron_variant,,ENST00000522195,;	141	106	86	SUCCESS
RAB24	53917	.	GRCh37	5	176730344	176730360	+	5_prime_UTR_variant	5'UTR	DEL	CCCCGATCTCCGCTCGG	CCCCGATCTCCGCTCGG	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	CCCCGATCTCCGCTCGG	CCCCGATCTCCGCTCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	44	0	ENST00000303251.6:c.-71_-55del		p.*24*	ENST00000303251	NM_001031677.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34300.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAAACCCCGATCTCCGCTCGGCCCAG	NONE	.	.	.	.	.	ENSP00000304376	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000303251	Transcript	.	.	ENSG00000169228	9765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB24_HUMAN	RAB24	HGNC	D6RFW3_HUMAN	.	UPI000013315F	deletion	RAB24,5_prime_UTR_variant,,ENST00000303251,;RAB24,5_prime_UTR_variant,,ENST00000303270,;RAB24,intron_variant,,ENST00000504395,;RAB24,intron_variant,,ENST00000393611,;NSD1,downstream_gene_variant,,ENST00000354179,;MXD3,downstream_gene_variant,,ENST00000513063,;PRELID1,upstream_gene_variant,,ENST00000303204,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;NSD1,downstream_gene_variant,,ENST00000361032,;PRELID1,upstream_gene_variant,,ENST00000503853,;MXD3,downstream_gene_variant,,ENST00000427908,;PRELID1,upstream_gene_variant,,ENST00000503216,;NSD1,downstream_gene_variant,,ENST00000439151,;PRELID1,upstream_gene_variant,,ENST00000502670,;RAB24,non_coding_transcript_exon_variant,,ENST00000393610,;RAB24,non_coding_transcript_exon_variant,,ENST00000478234,;RAB24,non_coding_transcript_exon_variant,,ENST00000471466,;RAB24,non_coding_transcript_exon_variant,,ENST00000495458,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,intron_variant,,ENST00000512758,;PRELID1,upstream_gene_variant,,ENST00000510797,;PRELID1,upstream_gene_variant,,ENST00000504594,;MXD3,downstream_gene_variant,,ENST00000503782,;PRELID1,upstream_gene_variant,,ENST00000511309,;PRELID1,upstream_gene_variant,,ENST00000510701,;	350-366	44	29	SUCCESS
RNF180	285671	.	GRCh37	5	63510007	63510007	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	104	0	ENST00000389100.4:c.854G>T	p.Ser285Ile	p.S285I	ENST00000389100	NM_001113561.1	285	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47219.1	854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGTTTTG	NONE	.	.	hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF5	.	.	ENSP00000373752	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000389100	Transcript	.	.	ENSG00000164197	27752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0.01)	.	RN180_HUMAN	RNF180	HGNC	D6RE88_HUMAN	.	UPI0000141201	SNV	RNF180,missense_variant,p.Ser285Ile,ENST00000389100,;RNF180,missense_variant,p.Ser285Ile,ENST00000296615,;RNF180,intron_variant,,ENST00000381081,;RNF180,downstream_gene_variant,,ENST00000504296,;	926	104	98	SUCCESS
MAST4	375449	.	GRCh37	5	66398386	66398386	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	39	218	0	ENST00000403625.2:c.1093T>A	p.Cys365Ser	p.C365S	ENST00000403625	NM_001164664.1	365	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS54861.1	1093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGTGAC	NONE	.	.	Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139	.	.	ENSP00000385727	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Cys176Ser,ENST00000403666,;MAST4,missense_variant,p.Cys368Ser,ENST00000404260,;MAST4,missense_variant,p.Cys171Ser,ENST00000261569,;MAST4,missense_variant,p.Cys176Ser,ENST00000490016,;MAST4,missense_variant,p.Cys186Ser,ENST00000405643,;MAST4,missense_variant,p.Cys365Ser,ENST00000403625,;MAST4,downstream_gene_variant,,ENST00000436277,;MAST4,3_prime_UTR_variant,,ENST00000447738,;	1388	218	173	SUCCESS
CD83	9308	.	GRCh37	6	14118268	14118268	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	47	0	ENST00000379153.3:c.125A>T	p.Gln42Leu	p.Q42L	ENST00000379153	NM_001040280.1	42	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4532.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCAGGTTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15193,hmmpanther:PTHR15193:SF0,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000368450	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000379153	Transcript	.	.	ENSG00000112149	1703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.13)	.	CD83_HUMAN	CD83	HGNC	.	.	UPI000004C561	SNV	CD83,missense_variant,p.Gln42Leu,ENST00000379153,;	296	47	63	SUCCESS
RIPK1	8737	.	GRCh37	6	3104456	3104456	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs1370154065	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	57	79	0	ENST00000259808.4:c.916-3T>C		p.X306_splice	ENST00000259808		306		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4482.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATAGAAA	NONE	.	.	.	.	.	ENSP00000259808	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259808	Transcript	.	.	ENSG00000137275	10019	.	.	LOW	7/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RIPK1_HUMAN	RIPK1	HGNC	.	.	UPI000000DC95	SNV	RIPK1,splice_region_variant,,ENST00000259808,;RIPK1,splice_region_variant,,ENST00000380409,;RIPK1,splice_region_variant,,ENST00000541791,;RIPK1,splice_region_variant,,ENST00000479389,;	.	79	111	SUCCESS
GRM4	2914	.	GRCh37	6	34004308	34004308	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	56	0	ENST00000538487.2:c.1579G>C	p.Gly527Arg	p.G527R	ENST00000538487	NM_000841.2	527	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS4787.1	1579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCCGGTT	NONE	.	.	hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF07562	.	.	ENSP00000440556	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,missense_variant,p.Gly358Arg,ENST00000544773,;GRM4,missense_variant,p.Gly527Arg,ENST00000374181,;GRM4,missense_variant,p.Gly394Arg,ENST00000609222,;GRM4,missense_variant,p.Gly387Arg,ENST00000455714,;GRM4,missense_variant,p.Gly394Arg,ENST00000535756,;GRM4,missense_variant,p.Gly411Arg,ENST00000374177,;GRM4,missense_variant,p.Gly527Arg,ENST00000538487,;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	2023	56	66	SUCCESS
GUCA1A	2978	.	GRCh37	6	42123239	42123239	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	42	0	ENST00000053469.4:c.-550A>C		p.*184*	ENST00000053469	NM_000409.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4864.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACAGGGCT	NONE	.	.	.	.	.	ENSP00000377784	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000394237	Transcript	.	.	ENSG00000048545	4678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC1A_HUMAN	GUCA1A	HGNC	A6PVH5_HUMAN	.	UPI0000001C22	SNV	GUCA1A,5_prime_UTR_variant,,ENST00000541991,;GUCA1A,5_prime_UTR_variant,,ENST00000394237,;GUCA1A,5_prime_UTR_variant,,ENST00000053469,;GUCA1A,intron_variant,,ENST00000418175,;RP1-139D8.6,upstream_gene_variant,,ENST00000372963,;	56	42	51	SUCCESS
TRERF1	55809	.	GRCh37	6	42196221	42196221	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	60	0	ENST00000372922.4:c.3465C>T	p.Pro1155=	p.P1155=	ENST00000372922	NM_033502.2	1155	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4867.1	3465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGGGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,synonymous_variant,p.%3D,ENST00000541110,;TRERF1,synonymous_variant,p.%3D,ENST00000340840,;TRERF1,synonymous_variant,p.%3D,ENST00000372922,;TRERF1,synonymous_variant,p.%3D,ENST00000372917,;TRERF1,synonymous_variant,p.%3D,ENST00000354325,;	4028	60	93	SUCCESS
PRIM2	5558	.	GRCh37	6	57393127	57393127	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	46	0	ENST00000607273.1:c.777C>T	p.Ser259=	p.S259=	ENST00000607273	NM_000947.3	259	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	.	777	MUTECT|MUSE|VARSCANS	.	ACTAGCCAAGA	NONE	.	.	hmmpanther:PTHR10537:SF3,hmmpanther:PTHR10537,Pfam_domain:PF04104	.	.	ENSP00000475738	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,synonymous_variant,p.%3D,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000470638,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;PRIM2,non_coding_transcript_exon_variant,,ENST00000550475,;	864	46	72	SUCCESS
DPY19L2P2	349152	.	GRCh37	7	102856928	102856928	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	53	260	1	ENST00000312132.4:n.3154C>T		p.*1052*	ENST00000312132				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAGATTTT	NONE	.	.	.	.	.	.	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000312132	Transcript	.	.	ENSG00000170629	21764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPY19L2P2	HGNC	.	.	.	SNV	DPY19L2P2,non_coding_transcript_exon_variant,,ENST00000411491,;DPY19L2P2,non_coding_transcript_exon_variant,,ENST00000438364,;DPY19L2P2,non_coding_transcript_exon_variant,,ENST00000312132,;DPY19L2P2,non_coding_transcript_exon_variant,,ENST00000439473,;DPY19L2P2,non_coding_transcript_exon_variant,,ENST00000435536,;	3154	261	182	SUCCESS
ABCA13	154664	.	GRCh37	7	48416080	48416080	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769810894	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	77	0	ENST00000435803.1:c.11246G>A	p.Gly3749Asp	p.G3749D	ENST00000435803	NM_152701.3	3749	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47584.1	11246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCATGA	NONE	byFrequency	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	35/62	.	.	.	.	.	.	.	.	rs769810894	35/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Gly3749Asp,ENST00000435803,;ABCA13,missense_variant,p.Gly15Asp,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	11270	78	56	SUCCESS
TNRC18	84629	.	GRCh37	7	5427597	5427597	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	132	0	ENST00000430969.1:c.1858A>G	p.Lys620Glu	p.K620E	ENST00000430969	NM_001080495.2	620	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS47534.1	1858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTTCATGG	NONE	.	.	hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,missense_variant,p.Lys620Glu,ENST00000430969,;TNRC18,missense_variant,p.Lys22Glu,ENST00000413081,;TNRC18,missense_variant,p.Lys620Glu,ENST00000399537,;TNRC18,downstream_gene_variant,,ENST00000399434,;TNRC18,downstream_gene_variant,,ENST00000434361,;	2207	132	100	SUCCESS
SAMD9	54809	.	GRCh37	7	92734886	92734886	+	synonymous_variant	Silent	SNP	G	G	A	rs757549728	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	115	1	ENST00000379958.2:c.525C>T	p.Tyr175=	p.Y175=	ENST00000379958	NM_017654.3	175	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS34680.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGTAACG	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	rs757549728	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,synonymous_variant,p.%3D,ENST00000446617,;SAMD9,synonymous_variant,p.%3D,ENST00000379958,;	795	116	78	SUCCESS
CSMD3	114788	.	GRCh37	8	113317133	113317133	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	23	112	0	ENST00000297405.5:c.8083C>A	p.Pro2695Thr	p.P2695T	ENST00000297405	NM_198123.1	2695	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6315.1	8083	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGACATG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	52/71	.	.	.	.	.	.	.	.	.	52/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0.02)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Pro2625Thr,ENST00000352409,;CSMD3,missense_variant,p.Pro2695Thr,ENST00000297405,;CSMD3,missense_variant,p.Pro1965Thr,ENST00000339701,;CSMD3,missense_variant,p.Pro2655Thr,ENST00000343508,;CSMD3,intron_variant,,ENST00000455883,;	8328	112	177	SUCCESS
SLA	6503	.	GRCh37	8	134114893	134114893	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	42	0	ENST00000338087.5:c.-415C>T		p.*139*	ENST00000338087	NM_001045556.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34944.1	.	MUTECT|MUSE|VARSCANS	.	CAGTCGCTGTC	NONE	.	.	.	.	.	ENSP00000220616	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODIFIER	43/47	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	SLA,5_prime_UTR_variant,,ENST00000519341,;SLA,5_prime_UTR_variant,,ENST00000338087,;SLA,5_prime_UTR_variant,,ENST00000395352,;TG,intron_variant,,ENST00000220616,;TG,intron_variant,,ENST00000519543,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000377869,;TG,intron_variant,,ENST00000519178,;SLA,upstream_gene_variant,,ENST00000523610,;SLA,upstream_gene_variant,,ENST00000517648,;SLA,upstream_gene_variant,,ENST00000519747,;SLA,upstream_gene_variant,,ENST00000521302,;SLA,upstream_gene_variant,,ENST00000522119,;SLA,upstream_gene_variant,,ENST00000524345,;SLA,upstream_gene_variant,,ENST00000519558,;SLA,non_coding_transcript_exon_variant,,ENST00000518565,;SLA,upstream_gene_variant,,ENST00000517932,;SLA,upstream_gene_variant,,ENST00000521823,;SLA,upstream_gene_variant,,ENST00000522946,;TG,intron_variant,,ENST00000522809,;TG,intron_variant,,ENST00000522996,;TG,intron_variant,,ENST00000523756,;	.	42	64	SUCCESS
ANK1	286	.	GRCh37	8	41542087	41542087	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	45	42	0	ENST00000347528.4:c.4512C>T	p.Tyr1504=	p.Y1504=	ENST00000347528	NM_020477.2	1504	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS47849.1	4635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAGTAGTC	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	.	.	ENSP00000265709	.	38/43	.	.	.	.	.	.	.	.	.	38/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,synonymous_variant,p.%3D,ENST00000265709,;ANK1,synonymous_variant,p.%3D,ENST00000289734,;ANK1,synonymous_variant,p.%3D,ENST00000347528,;ANK1,synonymous_variant,p.%3D,ENST00000520299,;ANK1,synonymous_variant,p.%3D,ENST00000352337,;ANK1,synonymous_variant,p.%3D,ENST00000379758,;ANK1,synonymous_variant,p.%3D,ENST00000396942,;ANK1,synonymous_variant,p.%3D,ENST00000396945,;ANK1,synonymous_variant,p.%3D,ENST00000518061,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;	4917	42	68	SUCCESS
XKR9	389668	.	GRCh37	8	71646299	71646299	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	18	102	0	ENST00000408926.3:c.762T>A	p.Cys254Ter	p.C254*	ENST00000408926	NM_001011720.1	254	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS34905.1	762	MUTECT|MUSE|VARSCANS	.	TTTTGTACTTG	NONE	.	.	hmmpanther:PTHR32129:SF6,hmmpanther:PTHR32129,Pfam_domain:PF09815	.	.	ENSP00000386141	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000408926	Transcript	.	.	ENSG00000221947	20937	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XKR9_HUMAN	XKR9	HGNC	E5RFF6_HUMAN	.	UPI00004C7A9F	SNV	XKR9,stop_gained,p.Cys254Ter,ENST00000408926,;XKR9,stop_gained,p.Cys254Ter,ENST00000520030,;XKR9,intron_variant,,ENST00000520273,;XKR9,3_prime_UTR_variant,,ENST00000520092,;	1296	102	218	SUCCESS
AGPAT2	10555	.	GRCh37	9	139568320	139568320	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs11545228	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	49	115	0	ENST00000371696.2:c.721G>T	p.Val241Phe	p.V241F	ENST00000371696	NM_006412.3	241	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS7003.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACGTCCG	NONE	.	.	hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF2,Superfamily_domains:0039877	.	.	ENSP00000360761	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000371696	Transcript	.	.	ENSG00000169692	325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.638)	.	deleterious(0)	.	PLCB_HUMAN	AGPAT2	HGNC	Q8WUW2_HUMAN	.	UPI0000131BD3	SNV	AGPAT2,missense_variant,p.Val241Phe,ENST00000371696,;AGPAT2,missense_variant,p.Val241Phe,ENST00000538402,;AGPAT2,missense_variant,p.Val209Phe,ENST00000371694,;EGFL7,downstream_gene_variant,,ENST00000308874,;EGFL7,downstream_gene_variant,,ENST00000371698,;EGFL7,downstream_gene_variant,,ENST00000371699,;EGFL7,downstream_gene_variant,,ENST00000406555,;MIR126,downstream_gene_variant,,ENST00000362291,;EGFL7,downstream_gene_variant,,ENST00000490469,;EGFL7,downstream_gene_variant,,ENST00000492002,;AGPAT2,non_coding_transcript_exon_variant,,ENST00000472820,;AGPAT2,downstream_gene_variant,,ENST00000470861,;	787	115	77	SUCCESS
ELAVL2	1993	.	GRCh37	9	23762193	23762193	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	40	134	0	ENST00000380117.1:c.40A>G	p.Thr14Ala	p.T14A	ENST00000380117		14	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6515.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTGTTAT	NONE	.	.	hmmpanther:PTHR24011:SF199,hmmpanther:PTHR24011	.	.	ENSP00000380479	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000397312	Transcript	.	.	ENSG00000107105	3313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.39)	.	ELAV2_HUMAN	ELAVL2	HGNC	C9JB16_HUMAN,B1AM48_HUMAN	.	UPI000013C83F	SNV	ELAVL2,missense_variant,p.Thr14Ala,ENST00000440102,;ELAVL2,missense_variant,p.Thr14Ala,ENST00000380117,;ELAVL2,missense_variant,p.Thr43Ala,ENST00000380110,;ELAVL2,missense_variant,p.Thr14Ala,ENST00000397312,;ELAVL2,missense_variant,p.Thr14Ala,ENST00000223951,;ELAVL2,missense_variant,p.Thr14Ala,ENST00000544538,;ELAVL2,downstream_gene_variant,,ENST00000462649,;	315	134	127	SUCCESS
HINT2	84681	.	GRCh37	9	35813496	35813496	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	95	0	ENST00000259667.5:c.273C>A	p.Val91=	p.V91=	ENST00000259667	NM_032593.2	91	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6594.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGACCAG	NONE	.	.	Prints_domain:PR00332,Superfamily_domains:SSF54197,Gene3D:3.30.428.10,Pfam_domain:PF01230,hmmpanther:PTHR23089:SF4,hmmpanther:PTHR23089,PROSITE_profiles:PS51084	.	.	ENSP00000259667	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000259667	Transcript	.	.	ENSG00000137133	18344	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HINT2_HUMAN	HINT2	HGNC	.	.	UPI000000DC49	SNV	HINT2,synonymous_variant,p.%3D,ENST00000259667,;FAM221B,downstream_gene_variant,,ENST00000423537,;SPAG8,upstream_gene_variant,,ENST00000497810,;SPAG8,upstream_gene_variant,,ENST00000340291,;TMEM8B,upstream_gene_variant,,ENST00000377996,;SPAG8,upstream_gene_variant,,ENST00000484764,;NPR2,downstream_gene_variant,,ENST00000447210,;NPR2,downstream_gene_variant,,ENST00000421267,;SPAG8,upstream_gene_variant,,ENST00000396638,;NPR2,downstream_gene_variant,,ENST00000342694,;AL133410.1,upstream_gene_variant,,ENST00000582432,;HINT2,non_coding_transcript_exon_variant,,ENST00000474848,;HINT2,non_coding_transcript_exon_variant,,ENST00000474908,;HINT2,non_coding_transcript_exon_variant,,ENST00000472085,;HINT2,non_coding_transcript_exon_variant,,ENST00000490578,;HINT2,non_coding_transcript_exon_variant,,ENST00000471774,;HINT2,non_coding_transcript_exon_variant,,ENST00000461169,;SPAG8,upstream_gene_variant,,ENST00000463889,;SPAG8,upstream_gene_variant,,ENST00000489063,;SPAG8,upstream_gene_variant,,ENST00000479751,;SPAG8,upstream_gene_variant,,ENST00000471631,;SPAG8,upstream_gene_variant,,ENST00000495667,;SPAG8,upstream_gene_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000448821,;SPAG8,upstream_gene_variant,,ENST00000475644,;SPAG8,upstream_gene_variant,,ENST00000472605,;FAM221B,downstream_gene_variant,,ENST00000388950,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000469249,;	315	95	77	SUCCESS
TRPM3	80036	.	GRCh37	9	73151320	73151320	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	52	107	0	ENST00000377110.3:c.4673C>T	p.Ala1558Val	p.A1558V	ENST00000377110		1558	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43835.1	4673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGCATTG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	.	.	ENSP00000366314	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000377110	Transcript	.	.	ENSG00000083067	17992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.447)	.	tolerated_low_confidence(0.14)	.	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,missense_variant,p.Ala1430Val,ENST00000377106,;TRPM3,missense_variant,p.Ala1420Val,ENST00000360823,;TRPM3,missense_variant,p.Ala1420Val,ENST00000358082,;TRPM3,missense_variant,p.Ala1430Val,ENST00000396292,;TRPM3,missense_variant,p.Ala1407Val,ENST00000396280,;TRPM3,missense_variant,p.Ala1585Val,ENST00000423814,;TRPM3,missense_variant,p.Ala1417Val,ENST00000408909,;TRPM3,missense_variant,p.Ala1562Val,ENST00000357533,;TRPM3,missense_variant,p.Ala1558Val,ENST00000377110,;TRPM3,missense_variant,p.Ala1417Val,ENST00000377105,;TRPM3,missense_variant,p.Ala1417Val,ENST00000396285,;TRPM3,intron_variant,,ENST00000377111,;	4917	107	81	SUCCESS
DMRT1	1761	.	GRCh37	9	842074	842074	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	66	0	ENST00000382276.3:c.236G>A	p.Cys79Tyr	p.C79Y	ENST00000382276	NM_021951.2	79	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS6442.1	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTGCAGGA	NONE	.	.	PROSITE_profiles:PS50809,hmmpanther:PTHR12322:SF64,hmmpanther:PTHR12322,PROSITE_patterns:PS40000,Pfam_domain:PF00751,Gene3D:1lpvA00,SMART_domains:SM00301,Superfamily_domains:0040609	.	.	ENSP00000371711	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000382276	Transcript	.	.	ENSG00000137090	2934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DMRT1_HUMAN	DMRT1	HGNC	H3BN61_HUMAN	.	UPI00000008AC	SNV	DMRT1,missense_variant,p.Cys79Tyr,ENST00000382276,;DMRT1,upstream_gene_variant,,ENST00000569227,;DMRT1,non_coding_transcript_exon_variant,,ENST00000564322,;	385	66	81	SUCCESS
CASK	8573	.	GRCh37	X	41379693	41379693	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	26	55	0	ENST00000378163.1:c.2761C>T	p.Pro921Ser	p.P921S	ENST00000378163		921	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS14257.1	2746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGGACCC	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40	.	.	ENSP00000367408	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000378166	Transcript	.	.	ENSG00000147044	1497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CSKP_HUMAN	CASK	HGNC	.	.	UPI000013DA91	SNV	CASK,missense_variant,p.Pro892Ser,ENST00000421587,;CASK,missense_variant,p.Pro893Ser,ENST00000442742,;CASK,missense_variant,p.Pro916Ser,ENST00000378166,;CASK,missense_variant,p.Pro916Ser,ENST00000318588,;CASK,missense_variant,p.Pro513Ser,ENST00000378179,;CASK,missense_variant,p.Pro921Ser,ENST00000378163,;CASK,missense_variant,p.Pro904Ser,ENST00000361962,;CASK,missense_variant,p.Pro904Ser,ENST00000378158,;CASK,missense_variant,p.Pro376Ser,ENST00000378168,;CASK-AS1,intron_variant,,ENST00000451126,;	2773	55	37	SUCCESS
NAP1L3	4675	.	GRCh37	X	92927344	92927344	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	34	199	0	ENST00000373079.3:c.960G>T	p.Lys320Asn	p.K320N	ENST00000373079	NM_004538.5	320	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS14465.1	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCTTTAA	NONE	.	.	Superfamily_domains:SSF143113,Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38	.	.	ENSP00000362171	.	1/1	.	.	.	.	.	.	.	.	COSM4111591	1/1	PASS	ENST00000373079	Transcript	.	.	ENSG00000186310	7639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.937)	.	deleterious(0)	1	NP1L3_HUMAN	NAP1L3	HGNC	.	.	UPI0000167B31	SNV	NAP1L3,missense_variant,p.Lys313Asn,ENST00000475430,;NAP1L3,missense_variant,p.Lys320Asn,ENST00000373079,;FAM133A,upstream_gene_variant,,ENST00000355813,;FAM133A,upstream_gene_variant,,ENST00000538690,;FAM133A,upstream_gene_variant,,ENST00000332647,;FAM133A,upstream_gene_variant,,ENST00000322139,;	1224	199	107	SUCCESS
CCDC147	0	.	GRCh37	10	106128252	106128252	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	16	89	0	ENST00000369704.3:c.864T>G	p.Asn288Lys	p.N288K	ENST00000369704	NM_001008723.1	288	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS31282.1	864	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATGAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF26	.	.	ENSP00000358718	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000369704	Transcript	.	.	ENSG00000120051	26676	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.257)	.	tolerated(0.29)	.	CC147_HUMAN	CCDC147	HGNC	B4DK97_HUMAN	.	UPI0000160405	SNV	CCDC147,missense_variant,p.Asn288Lys,ENST00000369704,;CCDC147,5_prime_UTR_variant,,ENST00000312902,;	998	89	126	SUCCESS
TACC2	10579	.	GRCh37	10	123970808	123970808	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	30	188	0	ENST00000334433.3:c.6868G>T	p.Gly2290Cys	p.G2290C	ENST00000334433		2290	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7626.1	6868	RADIA|MUTECT|MUSE|VARSCANS	.	AGATAGGCAAA	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Gly368Cys,ENST00000368999,;TACC2,missense_variant,p.Gly436Cys,ENST00000358010,;TACC2,missense_variant,p.Gly2294Cys,ENST00000453444,;TACC2,missense_variant,p.Gly368Cys,ENST00000260733,;TACC2,missense_variant,p.Gly2290Cys,ENST00000369005,;TACC2,missense_variant,p.Gly2290Cys,ENST00000334433,;TACC2,missense_variant,p.Gly2245Cys,ENST00000515603,;TACC2,missense_variant,p.Gly368Cys,ENST00000369004,;TACC2,missense_variant,p.Gly385Cys,ENST00000514539,;TACC2,missense_variant,p.Gly29Cys,ENST00000496913,;TACC2,missense_variant,p.Gly436Cys,ENST00000513429,;TACC2,missense_variant,p.Gly368Cys,ENST00000360561,;TACC2,missense_variant,p.Gly2294Cys,ENST00000515273,;TACC2,5_prime_UTR_variant,,ENST00000369000,;TACC2,5_prime_UTR_variant,,ENST00000369001,;TACC2,intron_variant,,ENST00000505639,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000492237,;TACC2,downstream_gene_variant,,ENST00000493951,;TACC2,missense_variant,p.Gly137Cys,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;	7208	188	207	SUCCESS
CDK1	983	.	GRCh37	10	62551796	62551796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	13	144	0	ENST00000395284.3:c.638T>C	p.Leu213Pro	p.L213P	ENST00000395284	NM_001786.4	213	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS44408.1	638	MUTECT|MUSE|VARSCANS	.	TCAACTCTTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000378699	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000395284	Transcript	.	.	ENSG00000170312	1722	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CDK1_HUMAN	CDK1	HGNC	Q5H9N4_HUMAN,E5RIU6_HUMAN	.	UPI0000035BE1	SNV	CDK1,missense_variant,p.Leu156Pro,ENST00000316629,;CDK1,missense_variant,p.Leu156Pro,ENST00000373809,;CDK1,missense_variant,p.Leu213Pro,ENST00000448257,;CDK1,missense_variant,p.Leu213Pro,ENST00000395284,;CDK1,downstream_gene_variant,,ENST00000519078,;CDK1,downstream_gene_variant,,ENST00000487784,;CDK1,downstream_gene_variant,,ENST00000475504,;	780	144	159	SUCCESS
HERC4	26091	.	GRCh37	10	69748547	69748547	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772847954	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	273	43	296	0	ENST00000395198.3:c.1679T>C	p.Val560Ala	p.V560A	ENST00000395198	NM_022079.2	560	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS41533.1	1679	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTACTATC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF290	.	.	ENSP00000378624	.	15/26	.	.	.	.	.	.	.	.	rs772847954	15/26	PASS	ENST00000395198	Transcript	.	.	ENSG00000148634	24521	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.111)	.	deleterious(0.05)	.	HERC4_HUMAN	HERC4	HGNC	D6RFK9_HUMAN	.	UPI00004C6F56	SNV	HERC4,missense_variant,p.Val560Ala,ENST00000373700,;HERC4,missense_variant,p.Val450Ala,ENST00000277817,;HERC4,missense_variant,p.Val560Ala,ENST00000412272,;HERC4,missense_variant,p.Val560Ala,ENST00000395198,;HERC4,3_prime_UTR_variant,,ENST00000395187,;HERC4,3_prime_UTR_variant,,ENST00000473533,;HERC4,3_prime_UTR_variant,,ENST00000427635,;HERC4,non_coding_transcript_exon_variant,,ENST00000460168,;	1927	296	316	SUCCESS
CDH23	64072	.	GRCh37	10	73563052	73563052	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	76	0	ENST00000224721.6:c.7762G>T	p.Ala2588Ser	p.A2588S	ENST00000224721	NM_022124.5	2588	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS53540.1	1027	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGGCCACA	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000381768	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000398788	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	CAD23_HUMAN	CDH23	HGNC	.	.	UPI0000496839	SNV	CDH23,missense_variant,p.Ala343Ser,ENST00000398788,;CDH23,missense_variant,p.Ala2588Ser,ENST00000224721,;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	1344	76	76	SUCCESS
BCL9L	283149	.	GRCh37	11	118771950	118771950	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	43	0	ENST00000334801.3:c.2502G>A	p.Lys834=	p.K834=	ENST00000334801	NM_182557.2	834	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS8403.1	2502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCTTCTG	NONE	.	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3	.	.	ENSP00000335320	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,synonymous_variant,p.%3D,ENST00000334801,;CXCR5,downstream_gene_variant,,ENST00000292174,;BCL9L,non_coding_transcript_exon_variant,,ENST00000526143,;BCL9L,intron_variant,,ENST00000526514,;BCL9L,intron_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000527266,;	3467	43	50	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120318992	120318992	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	17	85	0	ENST00000397843.2:c.1672A>C	p.Lys558Gln	p.K558Q	ENST00000397843	NM_015313.2	558	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS41727.1	1672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTAAAAGTG	NONE	.	.	Superfamily_domains:SSF48097,Pfam_domain:PF09128,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8	.	.	ENSP00000380942	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0)	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,missense_variant,p.Lys455Gln,ENST00000532993,;ARHGEF12,missense_variant,p.Lys558Gln,ENST00000397843,;ARHGEF12,missense_variant,p.Lys539Gln,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,downstream_gene_variant,,ENST00000525960,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,;	1838	85	100	SUCCESS
SNX19	399979	.	GRCh37	11	130785826	130785826	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	63	0	ENST00000265909.4:c.9A>G	p.Thr3=	p.T3=	ENST00000265909	NM_014758.2	3	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31721.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTGTCTT	NONE	.	.	.	.	.	ENSP00000265909	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,synonymous_variant,p.%3D,ENST00000533214,;SNX19,synonymous_variant,p.%3D,ENST00000265909,;SNX19,intron_variant,,ENST00000539184,;SNX19,intron_variant,,ENST00000528555,;SNX19,intron_variant,,ENST00000530356,;SNX19,intron_variant,,ENST00000533318,;SNX19,intron_variant,,ENST00000531608,;	579	63	52	SUCCESS
FLRT1	23769	.	GRCh37	11	63885617	63885617	+	synonymous_variant	Silent	SNP	G	G	A	rs143811913	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	20	140	0	ENST00000246841.3:c.1878G>A	p.Pro626=	p.P626=	ENST00000246841	NM_013280.4	626	ccG/ccA	0	A:0.002	A:0.0023	.	A:0.0029	.	A	P	protein_coding	YES	CCDS8057.1	1878	RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGTACCG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30	A:0	A:0	ENSP00000246841	A:0	2/2	.	.	.	.	.	.	.	.	rs143811913,COSM193957	2/2	PASS	ENST00000246841	Transcript	.	A:0.0010	ENSG00000126500	3760	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0	.	0,1	FLRT1_HUMAN	FLRT1	HGNC	O43408_HUMAN	.	UPI0000039F94	SNV	FLRT1,synonymous_variant,p.%3D,ENST00000246841,;MACROD1,intron_variant,,ENST00000255681,;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000545464,;	2921	140	155	SUCCESS
RSF1	51773	.	GRCh37	11	77409660	77409660	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	119	0	ENST00000308488.6:c.2587G>A	p.Glu863Lys	p.E863K	ENST00000308488		863	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8253.1	2587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTCACTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	7/16	.	.	.	.	.	.	.	.	COSM314915	7/16	PASS	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.333)	.	tolerated(0.13)	1	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	SNV	RSF1,missense_variant,p.Glu863Lys,ENST00000308488,;RSF1,missense_variant,p.Glu832Lys,ENST00000360355,;RSF1,missense_variant,p.Glu664Lys,ENST00000526324,;RSF1,missense_variant,p.Glu611Lys,ENST00000480887,;RSF1,missense_variant,p.Glu117Lys,ENST00000532556,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,downstream_gene_variant,,ENST00000528095,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,non_coding_transcript_exon_variant,,ENST00000531768,;	2890	119	121	SUCCESS
ACACB	32	.	GRCh37	12	109692117	109692117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	28	98	0	ENST00000338432.7:c.6144G>T	p.Met2048Ile	p.M2048I	ENST00000338432		2048	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31898.1	6144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGCTTGC	NONE	.	.	PROSITE_profiles:PS50989,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Gene3D:3.90.226.10,Pfam_domain:PF01039,Superfamily_domains:SSF52096	.	.	ENSP00000341044	.	44/53	.	.	.	.	.	.	.	.	.	44/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	deleterious(0.04)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Met1978Ile,ENST00000377854,;ACACB,missense_variant,p.Met714Ile,ENST00000543201,;ACACB,missense_variant,p.Met2048Ile,ENST00000377848,;ACACB,missense_variant,p.Met2048Ile,ENST00000338432,;ACACB,missense_variant,p.Met715Ile,ENST00000538526,;ACACB,downstream_gene_variant,,ENST00000536440,;ACACB,downstream_gene_variant,,ENST00000396233,;	6263	98	124	SUCCESS
B3GNT4	79369	.	GRCh37	12	122691390	122691390	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	52	0	ENST00000324189.4:c.592C>A	p.Leu198Met	p.L198M	ENST00000324189	NM_030765.2	198	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS9227.1	592	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCTGCAC	NONE	.	.	hmmpanther:PTHR11214:SF27,hmmpanther:PTHR11214,Pfam_domain:PF01762	.	.	ENSP00000319636	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000324189	Transcript	.	.	ENSG00000176383	15683	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	B3GN4_HUMAN	B3GNT4	HGNC	.	.	UPI0000051E30	SNV	B3GNT4,missense_variant,p.Leu173Met,ENST00000535274,;B3GNT4,missense_variant,p.Leu173Met,ENST00000546192,;B3GNT4,missense_variant,p.Leu198Met,ENST00000324189,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000353548,;DIABLO,downstream_gene_variant,,ENST00000464942,;DIABLO,downstream_gene_variant,,ENST00000413918,;DIABLO,downstream_gene_variant,,ENST00000541273,;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000267169,;LRRC43,downstream_gene_variant,,ENST00000425921,;LRRC43,downstream_gene_variant,,ENST00000339777,;DIABLO,downstream_gene_variant,,ENST00000443649,;B3GNT4,non_coding_transcript_exon_variant,,ENST00000538257,;B3GNT4,non_coding_transcript_exon_variant,,ENST00000537991,;B3GNT4,intron_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000537733,;DIABLO,downstream_gene_variant,,ENST00000342392,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;	948	52	47	SUCCESS
GRIN2B	2904	.	GRCh37	12	13906726	13906726	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	10	175	0	ENST00000609686.1:c.535T>A	p.Tyr179Asn	p.Y179N	ENST00000609686	NM_000834.3	179	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS8662.1	535	MUTECT|MUSE	.	CTGGTAGCCAG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000477455	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000609686	Transcript	.	.	ENSG00000273079	4586	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	NMDE2_HUMAN	GRIN2B	HGNC	Q59HA9_HUMAN	.	UPI000013026C	SNV	GRIN2B,missense_variant,p.Tyr179Asn,ENST00000609686,;	745	175	157	SUCCESS
KRT71	112802	.	GRCh37	12	52940080	52940080	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1161525255	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	82	0	ENST00000267119.5:c.1315G>A	p.Glu439Lys	p.E439K	ENST00000267119	NM_033448.2	439	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8831.1	1315	MUTECT|MUSE	.	CTCCTCGCTCT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116,Gene3D:1.20.5.170,Pfam_domain:PF00038	.	.	ENSP00000267119	.	7/9	.	.	.	.	.	.	.	.	COSM3462330	7/9	PASS	ENST00000267119	Transcript	.	.	ENSG00000139648	28927	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	K2C71_HUMAN	KRT71	HGNC	.	.	UPI0000052B57	SNV	KRT71,missense_variant,p.Glu439Lys,ENST00000267119,;	1385	82	78	SUCCESS
NOP2	4839	.	GRCh37	12	6669440	6669440	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755838587	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	80	0	ENST00000322166.5:c.1613G>T	p.Arg538Leu	p.R538L	ENST00000322166	NM_001258308.1	538	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS58204.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCGCACA	NONE	byFrequency	.	PROSITE_profiles:PS51686,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF30,TIGRFAM_domain:TIGR00446,Pfam_domain:PF01189,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000371858	.	16/17	.	.	.	.	.	.	.	.	rs755838587	16/17	PASS	ENST00000382421	Transcript	.	.	ENSG00000111641	7867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	NOP2_HUMAN	NOP2	HGNC	.	.	UPI00005C3039	SNV	NOP2,missense_variant,p.Arg534Leu,ENST00000399466,;NOP2,missense_variant,p.Arg538Leu,ENST00000322166,;NOP2,missense_variant,p.Arg571Leu,ENST00000382421,;NOP2,missense_variant,p.Arg538Leu,ENST00000537442,;NOP2,missense_variant,p.Arg534Leu,ENST00000545200,;NOP2,missense_variant,p.Arg534Leu,ENST00000541778,;IFFO1,upstream_gene_variant,,ENST00000336604,;NOP2,downstream_gene_variant,,ENST00000536124,;NOP2,downstream_gene_variant,,ENST00000542944,;IFFO1,upstream_gene_variant,,ENST00000356896,;NOP2,downstream_gene_variant,,ENST00000542867,;IFFO1,upstream_gene_variant,,ENST00000396840,;NOP2,non_coding_transcript_exon_variant,,ENST00000542015,;NOP2,non_coding_transcript_exon_variant,,ENST00000537708,;NOP2,non_coding_transcript_exon_variant,,ENST00000544630,;NOP2,non_coding_transcript_exon_variant,,ENST00000536506,;IFFO1,upstream_gene_variant,,ENST00000488007,;IFFO1,upstream_gene_variant,,ENST00000487279,;NOP2,downstream_gene_variant,,ENST00000538420,;NOP2,downstream_gene_variant,,ENST00000400580,;NOP2,downstream_gene_variant,,ENST00000542919,;	1788	80	79	SUCCESS
CAND1	55832	.	GRCh37	12	67691629	67691629	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	60	0	ENST00000545606.1:c.850A>G	p.Arg284Gly	p.R284G	ENST00000545606	NM_018448.3	284	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8977.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAAGAAGG	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	tolerated(0.22)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Arg284Gly,ENST00000545606,;CAND1,upstream_gene_variant,,ENST00000544619,;CAND1,missense_variant,p.Arg166Gly,ENST00000540319,;CAND1,downstream_gene_variant,,ENST00000535146,;CAND1,downstream_gene_variant,,ENST00000539434,;	1287	60	61	SUCCESS
PCDH8	5100	.	GRCh37	13	53421770	53421770	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	39	0	ENST00000377942.3:c.802C>A	p.Leu268Met	p.L268M	ENST00000377942	NM_002590.3	268	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9438.1	802	MUTECT|MUSE	.	GTCCAGGTCGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF46,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000367177	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000377942	Transcript	.	.	ENSG00000136099	8660	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.918)	.	deleterious(0.01)	.	PCDH8_HUMAN	PCDH8	HGNC	.	.	UPI0000072D47	SNV	PCDH8,missense_variant,p.Leu268Met,ENST00000338862,;PCDH8,missense_variant,p.Leu268Met,ENST00000377942,;	1006	39	18	SUCCESS
PCDH20	64881	.	GRCh37	13	61989314	61989314	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	56	0	ENST00000409186.1:c.-23C>T		p.*8*	ENST00000409186				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9442.2	.	MUTECT|MUSE	.	TCAGAGCGCTC	NONE	.	.	.	.	.	ENSP00000386653	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,5_prime_UTR_variant,,ENST00000409204,;PCDH20,5_prime_UTR_variant,,ENST00000409186,;	2084	56	57	SUCCESS
MGAT2	4247	.	GRCh37	14	50089289	50089289	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	80	0	ENST00000305386.2:c.1303A>G	p.Arg435Gly	p.R435G	ENST00000305386	NM_002408.3	435	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9690.1	1303	MUTECT|MUSE|VARSCANS	.	ATATTAGGGAC	NONE	.	.	hmmpanther:PTHR12871,hmmpanther:PTHR12871:SF0,Pfam_domain:PF05060	.	.	ENSP00000307423	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305386	Transcript	.	.	ENSG00000168282	7045	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MGAT2_HUMAN	MGAT2	HGNC	B4DDK9_HUMAN	.	UPI000012B8CA	SNV	MGAT2,missense_variant,p.Arg435Gly,ENST00000305386,;DNAAF2,downstream_gene_variant,,ENST00000298292,;DNAAF2,downstream_gene_variant,,ENST00000406043,;RPL36AL,upstream_gene_variant,,ENST00000298289,;RP11-649E7.5,non_coding_transcript_exon_variant,,ENST00000555043,;	1801	80	67	SUCCESS
DDHD1	80821	.	GRCh37	14	53540535	53540535	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	21	148	0	ENST00000323669.5:c.1320A>G	p.Glu440=	p.E440=	ENST00000323669	NM_001160148.1	440	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS53895.1	1320	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTTTCTTC	NONE	.	.	hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF4	.	.	ENSP00000327104	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000323669	Transcript	.	.	ENSG00000100523	19714	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDHD1_HUMAN	DDHD1	HGNC	G3V2P6_HUMAN	.	UPI00001D7B55	SNV	DDHD1,synonymous_variant,p.%3D,ENST00000395606,;DDHD1,synonymous_variant,p.%3D,ENST00000323669,;DDHD1,synonymous_variant,p.%3D,ENST00000357758,;DDHD1,non_coding_transcript_exon_variant,,ENST00000556027,;	1320	148	156	SUCCESS
VSX2	338917	.	GRCh37	14	74726418	74726418	+	synonymous_variant	Silent	SNP	C	C	A	rs748025339	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	23	88	0	ENST00000261980.2:c.693C>A	p.Pro231=	p.P231=	ENST00000261980	NM_182894.2	231	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9827.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCCTGCC	NONE	.	.	hmmpanther:PTHR24329:SF251,hmmpanther:PTHR24329,PROSITE_profiles:PS51496	.	.	ENSP00000261980	.	4/5	.	.	.	.	.	.	.	.	rs748025339	4/5	PASS	ENST00000261980	Transcript	.	.	ENSG00000119614	1975	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSX2_HUMAN	VSX2	HGNC	.	.	UPI0000128755	SNV	VSX2,synonymous_variant,p.%3D,ENST00000261980,;	783	88	121	SUCCESS
TJP1	7082	.	GRCh37	15	29997825	29997825	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	20	131	0	ENST00000346128.6:c.4975C>T	p.Pro1659Ser	p.P1659S	ENST00000346128	NM_175610.2	1659	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS42007.1	4975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGGGATAA	NONE	.	.	PROSITE_profiles:PS51145,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25,Pfam_domain:PF00791,SMART_domains:SM00218	.	.	ENSP00000281537	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,missense_variant,p.Pro1659Ser,ENST00000356107,;TJP1,missense_variant,p.Pro131Ser,ENST00000400007,;TJP1,missense_variant,p.Pro1583Ser,ENST00000400011,;TJP1,missense_variant,p.Pro1659Ser,ENST00000346128,;TJP1,missense_variant,p.Pro1579Ser,ENST00000545208,;TJP1,upstream_gene_variant,,ENST00000579042,;	5450	131	131	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42127787	42127787	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	8	91	0	ENST00000382448.4:c.474A>G		p.X158_splice	ENST00000382448		158	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32202.1	474	MUTECT|MUSE	.	GCAGGAAAGAT	NONE	.	.	PROSITE_profiles:PS51184,Gene3D:1vrbA01,Pfam_domain:PF13621,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000371886	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000382448	Transcript	.	.	ENSG00000168970	34449	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	JMJD7-PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000342159,;PLA2G4B,synonymous_variant,p.%3D,ENST00000542534,;JMJD7,synonymous_variant,p.%3D,ENST00000397299,;JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000382448,;JMJD7,synonymous_variant,p.%3D,ENST00000408047,;JMJD7,synonymous_variant,p.%3D,ENST00000431823,;PLA2G4B,upstream_gene_variant,,ENST00000458483,;PLA2G4B,upstream_gene_variant,,ENST00000452633,;JMJD7-PLA2G4B,splice_region_variant,,ENST00000476036,;JMJD7,downstream_gene_variant,,ENST00000562035,;JMJD7,downstream_gene_variant,,ENST00000405106,;JMJD7-PLA2G4B,splice_region_variant,,ENST00000490848,;JMJD7-PLA2G4B,splice_region_variant,,ENST00000491746,;PLA2G4B,upstream_gene_variant,,ENST00000461382,;JMJD7,upstream_gene_variant,,ENST00000478178,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000487292,;	483	91	112	SUCCESS
LCTL	197021	.	GRCh37	15	66857654	66857654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	41	224	0	ENST00000341509.5:c.50C>T	p.Pro17Leu	p.P17L	ENST00000341509	NM_207338.3	17	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10220.1	50	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGGCACC	NONE	.	.	hmmpanther:PTHR10353:SF24,hmmpanther:PTHR10353,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000343490	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000341509	Transcript	.	.	ENSG00000188501	15583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.43)	.	LCTL_HUMAN	LCTL	HGNC	B3KQY0_HUMAN	.	UPI00002520EC	SNV	LCTL,missense_variant,p.Pro17Leu,ENST00000341509,;LCTL,intron_variant,,ENST00000537670,;LCTL,intron_variant,,ENST00000562179,;LCTL,intron_variant,,ENST00000563438,;LCTL,intron_variant,,ENST00000565875,;	182	224	221	SUCCESS
IREB2	3658	.	GRCh37	15	78758781	78758781	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	14	127	0	ENST00000258886.8:c.579G>A	p.Gln193=	p.Q193=	ENST00000258886	NM_004136.2	193	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS10302.1	579	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGATTGA	NONE	.	.	hmmpanther:PTHR11670:SF31,hmmpanther:PTHR11670	.	.	ENSP00000258886	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000258886	Transcript	.	.	ENSG00000136381	6115	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IREB2_HUMAN	IREB2	HGNC	H0YLE0_HUMAN	.	UPI00001C1F8E	SNV	IREB2,synonymous_variant,p.%3D,ENST00000258886,;IREB2,synonymous_variant,p.%3D,ENST00000560440,;IREB2,downstream_gene_variant,,ENST00000560840,;IREB2,non_coding_transcript_exon_variant,,ENST00000559427,;IREB2,downstream_gene_variant,,ENST00000560454,;IREB2,synonymous_variant,p.%3D,ENST00000558570,;IREB2,3_prime_UTR_variant,,ENST00000558525,;IREB2,downstream_gene_variant,,ENST00000559215,;	728	127	137	SUCCESS
MVP	9961	.	GRCh37	16	29848234	29848234	+	synonymous_variant	Silent	SNP	C	C	T	rs765833197	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	96	0	ENST00000357402.5:c.864C>T	p.Val288=	p.V288=	ENST00000357402	NM_017458.3	288	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10656.1	864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCGGACC	NONE	byFrequency	.	PROSITE_profiles:PS51224,hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165	.	.	ENSP00000349977	.	7/15	.	.	.	.	.	.	.	.	rs765833197	7/15	PASS	ENST00000357402	Transcript	.	.	ENSG00000013364	7531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MVP_HUMAN	MVP	HGNC	H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN	.	UPI000012FA9C	SNV	MVP,missense_variant,p.Arg103Trp,ENST00000452209,;MVP,synonymous_variant,p.%3D,ENST00000395353,;MVP,synonymous_variant,p.%3D,ENST00000357402,;MVP,intron_variant,,ENST00000563558,;MVP,downstream_gene_variant,,ENST00000570234,;MVP,downstream_gene_variant,,ENST00000563915,;MVP,non_coding_transcript_exon_variant,,ENST00000570061,;MVP,3_prime_UTR_variant,,ENST00000569887,;MVP,3_prime_UTR_variant,,ENST00000566859,;MVP,downstream_gene_variant,,ENST00000562463,;MVP,upstream_gene_variant,,ENST00000568068,;MVP,downstream_gene_variant,,ENST00000569612,;MVP,downstream_gene_variant,,ENST00000563123,;	1002	96	104	SUCCESS
AXIN1	8312	.	GRCh37	16	396285	396285	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	66	0	ENST00000262320.3:c.741del	p.Trp247Ter	p.W247*	ENST00000262320	NM_003502.3	247	tgG/tg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS10405.1	741	INDELOCATOR|VARSCANI	.	ACACTTCCATTC	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	COSM133750	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	deletion	AXIN1,frameshift_variant,p.Trp247Ter,ENST00000262320,;AXIN1,frameshift_variant,p.Trp247Ter,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1113	66	62	SUCCESS
KIFC3	3801	.	GRCh37	16	57796115	57796115	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1555598629	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	30	0	ENST00000379655.4:c.1685A>C	p.Lys562Thr	p.K562T	ENST00000379655	NM_005550.3	562	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS10789.2	1685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCTTCTCC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF337,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000368976	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000379655	Transcript	.	.	ENSG00000140859	6326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	deleterious(0)	.	KIFC3_HUMAN	KIFC3	HGNC	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN	.	UPI000059D399	SNV	KIFC3,missense_variant,p.Lys25Thr,ENST00000565270,;KIFC3,missense_variant,p.Lys423Thr,ENST00000421376,;KIFC3,missense_variant,p.Lys504Thr,ENST00000539578,;KIFC3,missense_variant,p.Lys423Thr,ENST00000465878,;KIFC3,missense_variant,p.Lys420Thr,ENST00000543930,;KIFC3,missense_variant,p.Lys562Thr,ENST00000379655,;KIFC3,missense_variant,p.Lys584Thr,ENST00000541240,;KIFC3,missense_variant,p.Lys562Thr,ENST00000445690,;KIFC3,missense_variant,p.Lys423Thr,ENST00000562903,;KIFC3,missense_variant,p.Lys460Thr,ENST00000540079,;KIFC3,upstream_gene_variant,,ENST00000565397,;KATNB1,downstream_gene_variant,,ENST00000379661,;KIFC3,non_coding_transcript_exon_variant,,ENST00000563266,;KIFC3,missense_variant,p.Lys423Thr,ENST00000564136,;KIFC3,upstream_gene_variant,,ENST00000565753,;	1943	30	29	SUCCESS
CNOT1	23019	.	GRCh37	16	58572172	58572172	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	10	80	0	ENST00000317147.5:c.5136-2A>G		p.X1712_splice	ENST00000317147	NM_016284.4	1712		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10799.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTAGAAA	NONE	.	.	.	.	.	ENSP00000320949	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	HIGH	36/48	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	SNV	CNOT1,splice_acceptor_variant,,ENST00000568917,;CNOT1,splice_acceptor_variant,,ENST00000317147,;CNOT1,splice_acceptor_variant,,ENST00000245138,;CNOT1,splice_acceptor_variant,,ENST00000569240,;CNOT1,splice_acceptor_variant,,ENST00000563283,;CNOT1,splice_acceptor_variant,,ENST00000567188,;CNOT1,downstream_gene_variant,,ENST00000566240,;	.	80	89	SUCCESS
SLC38A7	55238	.	GRCh37	16	58709852	58709852	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	23	0	ENST00000219320.4:c.875T>C	p.Met292Thr	p.M292T	ENST00000219320	NM_018231.1	292	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS10800.1	875	MUTECT|MUSE	.	TCCCCATGTAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF192,Pfam_domain:PF01490	.	.	ENSP00000454646	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.82)	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,missense_variant,p.Met203Thr,ENST00000564010,;SLC38A7,missense_variant,p.Met64Thr,ENST00000570214,;SLC38A7,missense_variant,p.Met292Thr,ENST00000219320,;SLC38A7,missense_variant,p.Met292Thr,ENST00000564100,;SLC38A7,missense_variant,p.Met292Thr,ENST00000570101,;SLC38A7,downstream_gene_variant,,ENST00000563196,;SLC38A7,downstream_gene_variant,,ENST00000564391,;SLC38A7,downstream_gene_variant,,ENST00000562397,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000566953,;SLC38A7,missense_variant,p.Met159Thr,ENST00000565785,;SLC38A7,3_prime_UTR_variant,,ENST00000566598,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000562149,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000569209,;	1759	23	33	SUCCESS
SLC38A7	55238	.	GRCh37	16	58709858	58709858	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	25	0	ENST00000219320.4:c.869T>A	p.Val290Asp	p.V290D	ENST00000219320	NM_018231.1	290	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS10800.1	869	MUTECT|MUSE	.	TGTAGACAGCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF192,Pfam_domain:PF01490	.	.	ENSP00000454646	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,missense_variant,p.Val201Asp,ENST00000564010,;SLC38A7,missense_variant,p.Val62Asp,ENST00000570214,;SLC38A7,missense_variant,p.Val290Asp,ENST00000219320,;SLC38A7,missense_variant,p.Val290Asp,ENST00000564100,;SLC38A7,missense_variant,p.Val290Asp,ENST00000570101,;SLC38A7,downstream_gene_variant,,ENST00000563196,;SLC38A7,downstream_gene_variant,,ENST00000564391,;SLC38A7,downstream_gene_variant,,ENST00000562397,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000566953,;SLC38A7,missense_variant,p.Val157Asp,ENST00000565785,;SLC38A7,3_prime_UTR_variant,,ENST00000566598,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000562149,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000569209,;	1753	25	35	SUCCESS
CDH8	1006	.	GRCh37	16	61687819	61687819	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	20	124	0	ENST00000577390.1:c.2093A>G	p.Lys698Arg	p.K698R	ENST00000577390	NM_001796.4	698	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10802.1	2093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCTTACGG	BUFFER|p.R697H|c.2090G>A|3	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Pfam_domain:PF01049	.	.	ENSP00000462701	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,missense_variant,p.Lys698Arg,ENST00000577390,;CDH8,missense_variant,p.Lys698Arg,ENST00000299345,;CDH8,splice_region_variant,,ENST00000577730,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	3048	124	141	SUCCESS
TTC19	54902	.	GRCh37	17	15903433	15903433	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs758114969	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	399	86	564	0	ENST00000261647.5:c.186G>T		p.X62_splice	ENST00000261647	NM_001271420.1	62	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11174.2	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGCTCGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13143	.	.	ENSP00000261647	.	2/10	.	.	.	.	.	.	.	.	rs758114969	2/10	PASS	ENST00000261647	Transcript	.	.	ENSG00000011295	26006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC19_HUMAN	TTC19	HGNC	.	.	UPI0000042226	SNV	TTC19,synonymous_variant,p.%3D,ENST00000486880,;TTC19,synonymous_variant,p.%3D,ENST00000261647,;ZSWIM7,upstream_gene_variant,,ENST00000486655,;ZSWIM7,upstream_gene_variant,,ENST00000399277,;ZSWIM7,upstream_gene_variant,,ENST00000472495,;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;ZSWIM7,upstream_gene_variant,,ENST00000497719,;ZSWIM7,upstream_gene_variant,,ENST00000495825,;ZSWIM7,upstream_gene_variant,,ENST00000399280,;TTC19,synonymous_variant,p.%3D,ENST00000470399,;TTC19,synonymous_variant,p.%3D,ENST00000466729,;TTC19,synonymous_variant,p.%3D,ENST00000475723,;TTC19,splice_region_variant,,ENST00000583704,;ZSWIM7,upstream_gene_variant,,ENST00000491631,;ZSWIM7,upstream_gene_variant,,ENST00000585208,;ZSWIM7,upstream_gene_variant,,ENST00000579955,;ZSWIM7,upstream_gene_variant,,ENST00000476496,;ZSWIM7,upstream_gene_variant,,ENST00000486706,;ZSWIM7,upstream_gene_variant,,ENST00000460252,;ZSWIM7,upstream_gene_variant,,ENST00000490395,;ZSWIM7,upstream_gene_variant,,ENST00000474716,;ZSWIM7,upstream_gene_variant,,ENST00000460315,;ZSWIM7,upstream_gene_variant,,ENST00000584519,;	655	565	485	SUCCESS
OVCA2	124641	.	GRCh37	17	1945365	1945365	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	41	0	ENST00000572195.1:c.24G>T	p.Arg8=	p.R8=	ENST00000572195	NM_080822.2	8	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11015.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGGTCCT	NONE	.	.	hmmpanther:PTHR22778,hmmpanther:PTHR22778:SF0,Pfam_domain:PF03959,Gene3D:3.40.50.1820	.	.	ENSP00000461388	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000572195	Transcript	.	.	ENSG00000262664	24203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCA2_HUMAN	OVCA2	HGNC	.	.	UPI000000D9A0	SNV	OVCA2,synonymous_variant,p.%3D,ENST00000572195,;DPH1,3_prime_UTR_variant,,ENST00000571710,;DPH1,intron_variant,,ENST00000607788,;DPH1,intron_variant,,ENST00000263083,;DPH1,intron_variant,,ENST00000570477,;DPH1,intron_variant,,ENST00000571418,;DPH1,intron_variant,,ENST00000575162,;RP11-667K14.3,downstream_gene_variant,,ENST00000572790,;RP11-667K14.4,downstream_gene_variant,,ENST00000572404,;DPH1,3_prime_UTR_variant,,ENST00000263084,;DPH1,non_coding_transcript_exon_variant,,ENST00000572684,;DPH1,intron_variant,,ENST00000570867,;DPH1,intron_variant,,ENST00000572214,;DPH1,intron_variant,,ENST00000572248,;DPH1,intron_variant,,ENST00000575667,;DPH1,downstream_gene_variant,,ENST00000572819,;DPH1,downstream_gene_variant,,ENST00000576129,;DPH1,downstream_gene_variant,,ENST00000575998,;DPH1,downstream_gene_variant,,ENST00000570833,;	39	41	35	SUCCESS
MEOX1	4222	.	GRCh37	17	41738603	41738603	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756633277	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	95	0	ENST00000318579.4:c.300C>A	p.Asp100Glu	p.D100E	ENST00000318579	NM_001040002.1	100	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS11466.1	300	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGTCTGA	NONE	byFrequency	.	hmmpanther:PTHR24328:SF8,hmmpanther:PTHR24328	.	.	ENSP00000321684	.	1/3	.	.	.	.	.	.	.	.	rs756633277	1/3	PASS	ENST00000318579	Transcript	.	.	ENSG00000005102	7013	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	MEOX1_HUMAN	MEOX1	HGNC	.	.	UPI000012F410	SNV	MEOX1,missense_variant,p.Asp100Glu,ENST00000318579,;MEOX1,missense_variant,p.Thr71Lys,ENST00000549132,;MEOX1,missense_variant,p.Asp100Glu,ENST00000329168,;MEOX1,5_prime_UTR_variant,,ENST00000393661,;	720	95	97	SUCCESS
KCNH6	81033	.	GRCh37	17	61623214	61623214	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	57	0	ENST00000583023.1:c.2936T>C	p.Phe979Ser	p.F979S	ENST00000583023	NM_030779.3	979	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS11638.1	2936	MUTECT|MUSE	.	GGACTTCCAGA	NONE	.	.	.	.	.	ENSP00000463533	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	deleterious_low_confidence(0)	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,missense_variant,p.Phe979Ser,ENST00000583023,;KCNH6,missense_variant,p.Phe890Ser,ENST00000456941,;KCNH6,missense_variant,p.Phe890Ser,ENST00000581784,;KCNH6,missense_variant,p.Phe943Ser,ENST00000314672,;DCAF7,upstream_gene_variant,,ENST00000310827,;DCAF7,upstream_gene_variant,,ENST00000431926,;DCAF7,upstream_gene_variant,,ENST00000415273,;DCAF7,upstream_gene_variant,,ENST00000582274,;DCAF7,upstream_gene_variant,,ENST00000582103,;DCAF7,upstream_gene_variant,,ENST00000585252,;DCAF7,upstream_gene_variant,,ENST00000577702,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	2947	57	47	SUCCESS
TSHZ1	10194	.	GRCh37	18	72998511	72998511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	99	0	ENST00000580243.1:c.1149G>T	p.Gln383His	p.Q383H	ENST00000580243		383	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS12009.1	1014	MUTECT|MUSE	.	GATCAGAAAGC	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF6	.	.	ENSP00000323584	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322038	Transcript	.	.	ENSG00000179981	10669	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0.05)	.	TSH1_HUMAN	TSHZ1	HGNC	H0YN23_HUMAN,H0YKA1_HUMAN,A7YF73_HUMAN	.	UPI000021BFB5	SNV	TSHZ1,missense_variant,p.Gln383His,ENST00000580243,;TSHZ1,missense_variant,p.Gln338His,ENST00000322038,;TSHZ1,downstream_gene_variant,,ENST00000560661,;TSHZ1,downstream_gene_variant,,ENST00000560918,;TSHZ1,non_coding_transcript_exon_variant,,ENST00000584217,;	1598	99	116	SUCCESS
SBNO2	22904	.	GRCh37	19	1108865	1108865	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371421677	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	44	0	ENST00000361757.3:c.3529C>T	p.Arg1177Cys	p.R1177C	ENST00000361757	NM_014963.2	1177	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS45894.1	3529	MUTECT|MUSE	.	GATGCGGCCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706	.	A:0.0005	ENSP00000354733	.	31/32	.	.	.	.	.	.	.	.	rs371421677	31/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.915)	.	deleterious(0.03)	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,missense_variant,p.Arg1120Cys,ENST00000438103,;SBNO2,missense_variant,p.Arg1167Cys,ENST00000587024,;SBNO2,missense_variant,p.Arg1177Cys,ENST00000361757,;GPX4,downstream_gene_variant,,ENST00000585362,;GPX4,downstream_gene_variant,,ENST00000587648,;GPX4,downstream_gene_variant,,ENST00000354171,;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000593032,;SBNO2,non_coding_transcript_exon_variant,,ENST00000587673,;GPX4,downstream_gene_variant,,ENST00000587932,;SBNO2,downstream_gene_variant,,ENST00000586109,;GPX4,downstream_gene_variant,,ENST00000585480,;GPX4,downstream_gene_variant,,ENST00000592940,;	3767	44	42	SUCCESS
ZNF208	7757	.	GRCh37	19	22155400	22155400	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	68	0	ENST00000397126.4:c.2436A>C	p.Lys812Asn	p.K812N	ENST00000397126	NM_007153.3	812	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS54240.1	2436	MUTECT|MUSE|VARSCANS	.	AAGGTTTTGCC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0.03)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Lys812Asn,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	2585	68	67	SUCCESS
PLEKHJ1	55111	.	GRCh37	19	2234070	2234070	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	49	0	ENST00000326631.2:c.321-10T>C		p.*107*	ENST00000326631	NM_018049.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12083.1	.	MUTECT|MUSE	.	GGAAAAGGGTG	NONE	.	.	.	.	.	ENSP00000465391	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589097	Transcript	.	.	ENSG00000104886	18211	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHJ1_HUMAN	PLEKHJ1	HGNC	K7EN12_HUMAN	.	UPI00000527A2	SNV	PLEKHJ1,intron_variant,,ENST00000591099,;PLEKHJ1,intron_variant,,ENST00000586608,;PLEKHJ1,intron_variant,,ENST00000326631,;PLEKHJ1,intron_variant,,ENST00000587962,;PLEKHJ1,intron_variant,,ENST00000587394,;PLEKHJ1,intron_variant,,ENST00000589097,;SF3A2,upstream_gene_variant,,ENST00000221494,;SF3A2,upstream_gene_variant,,ENST00000586396,;DOT1L,downstream_gene_variant,,ENST00000398665,;DOT1L,downstream_gene_variant,,ENST00000457590,;MIR1227,mature_miRNA_variant,,ENST00000408484,;PLEKHJ1,intron_variant,,ENST00000589791,;PLEKHJ1,upstream_gene_variant,,ENST00000588633,;PLEKHJ1,intron_variant,,ENST00000588545,;PLEKHJ1,intron_variant,,ENST00000588450,;PLEKHJ1,intron_variant,,ENST00000585423,;PLEKHJ1,intron_variant,,ENST00000586497,;SF3A2,upstream_gene_variant,,ENST00000592839,;SF3A2,upstream_gene_variant,,ENST00000592314,;PLEKHJ1,downstream_gene_variant,,ENST00000588356,;	.	49	57	SUCCESS
FFAR1	2864	.	GRCh37	19	35842806	35842806	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs956591250	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	72	0	ENST00000246553.2:c.352C>T	p.Arg118Trp	p.R118W	ENST00000246553	NM_005303.2	118	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12458.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCGGAGG	BUFFER|p.P120L|c.359C>T|4	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF33,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01905	.	.	ENSP00000246553	.	1/1	.	.	.	.	.	.	.	.	COSM39485	1/1	PASS	ENST00000246553	Transcript	.	.	ENSG00000126266	4498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.212)	.	deleterious(0)	1	FFAR1_HUMAN	FFAR1	HGNC	.	.	UPI000005045B	SNV	FFAR1,missense_variant,p.Arg118Trp,ENST00000246553,;CD22,downstream_gene_variant,,ENST00000544992,;CD22,downstream_gene_variant,,ENST00000536635,;CD22,downstream_gene_variant,,ENST00000270311,;CD22,downstream_gene_variant,,ENST00000341773,;CD22,downstream_gene_variant,,ENST00000085219,;CD22,downstream_gene_variant,,ENST00000419549,;CD22,downstream_gene_variant,,ENST00000601769,;	362	72	71	SUCCESS
ZBTB32	27033	.	GRCh37	19	36207469	36207469	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1214931485	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	38	0	ENST00000262630.3:c.1279C>T	p.Pro427Ser	p.P427S	ENST00000262630	NM_014383.1	427	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12471.1	1279	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTCCGTAC	NONE	.	.	hmmpanther:PTHR11389:SF456,hmmpanther:PTHR11389,Superfamily_domains:SSF57667	.	.	ENSP00000376035	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000392197	Transcript	.	.	ENSG00000011590	16763	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.641)	.	deleterious(0)	.	ZBT32_HUMAN	ZBTB32	HGNC	K7EMJ1_HUMAN	.	UPI0000038C8C	SNV	ZBTB32,missense_variant,p.Pro427Ser,ENST00000392197,;ZBTB32,missense_variant,p.Pro427Ser,ENST00000262630,;KMT2B,upstream_gene_variant,,ENST00000222270,;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,upstream_gene_variant,,ENST00000341701,;KMT2B,upstream_gene_variant,,ENST00000420124,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000442282,;KMT2B,upstream_gene_variant,,ENST00000607650,;ZBTB32,downstream_gene_variant,,ENST00000451726,;ZBTB32,3_prime_UTR_variant,,ENST00000481182,;	1597	38	36	SUCCESS
CACTIN	58509	.	GRCh37	19	3623843	3623843	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1346471359	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	40	0	ENST00000221899.3:c.281C>T	p.Thr94Met	p.T94M	ENST00000221899		94	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS45920.1	485	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGTCTCG	NONE	.	.	hmmpanther:PTHR21737:SF6,hmmpanther:PTHR21737	.	.	ENSP00000415078	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.877)	.	deleterious(0.03)	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,missense_variant,p.Thr94Met,ENST00000221899,;CACTIN,missense_variant,p.Thr162Met,ENST00000248420,;CACTIN,missense_variant,p.Thr162Met,ENST00000429344,;CACTIN,upstream_gene_variant,,ENST00000588749,;CACTIN,missense_variant,p.Thr162Met,ENST00000585942,;CACTIN,upstream_gene_variant,,ENST00000587175,;CACTIN,upstream_gene_variant,,ENST00000589321,;	538	40	39	SUCCESS
ZNF574	64763	.	GRCh37	19	42585300	42585300	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	73	0	ENST00000359044.4:c.2542C>A	p.His848Asn	p.H848N	ENST00000359044	NM_022752.5	848	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS12596.1	2542	MUTECT|MUSE	.	AGCAGCATCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF38	.	.	ENSP00000469029	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000600245	Transcript	.	.	ENSG00000105732	26166	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.403)	.	tolerated(0.24)	.	ZN574_HUMAN	ZNF574	HGNC	Q9NT61_HUMAN,M0R133_HUMAN	.	UPI00001AE536	SNV	ZNF574,missense_variant,p.His938Asn,ENST00000222339,;ZNF574,missense_variant,p.His848Asn,ENST00000359044,;ZNF574,missense_variant,p.His848Asn,ENST00000600245,;POU2F2,downstream_gene_variant,,ENST00000389341,;ZNF574,downstream_gene_variant,,ENST00000597391,;CTB-59C6.3,upstream_gene_variant,,ENST00000594531,;	3197	73	59	SUCCESS
FSD1	79187	.	GRCh37	19	4310529	4310529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	81	0	ENST00000221856.6:c.426G>A	p.Met142Ile	p.M142I	ENST00000221856	NM_024333.2	142	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS12127.1	426	MUTECT|MUSE	.	AACATGAGTCA	NONE	.	.	PROSITE_profiles:PS51262,hmmpanther:PTHR24099	.	.	ENSP00000221856	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000221856	Transcript	.	.	ENSG00000105255	13745	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious(0.01)	.	FSD1_HUMAN	FSD1	HGNC	.	.	UPI000007168A	SNV	FSD1,missense_variant,p.Met142Ile,ENST00000597590,;FSD1,missense_variant,p.Met119Ile,ENST00000597480,;FSD1,missense_variant,p.Met142Ile,ENST00000221856,;FSD1,intron_variant,,ENST00000601006,;FSD1,non_coding_transcript_exon_variant,,ENST00000598010,;FSD1,non_coding_transcript_exon_variant,,ENST00000599375,;FSD1,non_coding_transcript_exon_variant,,ENST00000601815,;FSD1,non_coding_transcript_exon_variant,,ENST00000601678,;FSD1,upstream_gene_variant,,ENST00000598179,;	573	81	87	SUCCESS
DPP9	91039	.	GRCh37	19	4694598	4694598	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	32	0	ENST00000598800.1:c.1429+75G>T		p.*477*	ENST00000598800				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45928.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGACCAATG	NONE	.	.	.	.	.	ENSP00000262960	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	MODIFIER	13/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,3_prime_UTR_variant,,ENST00000597849,;DPP9,intron_variant,,ENST00000262960,;DPP9,intron_variant,,ENST00000598800,;DPP9,intron_variant,,ENST00000594671,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;DPP9,intron_variant,,ENST00000597145,;DPP9,intron_variant,,ENST00000599163,;DPP9,intron_variant,,ENST00000599998,;DPP9,intron_variant,,ENST00000597253,;	.	32	33	SUCCESS
ZNF350	59348	.	GRCh37	19	52472325	52472325	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	24	116	0	ENST00000243644.4:c.75G>T	p.Leu25=	p.L25=	ENST00000243644	NM_021632.3	25	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12845.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCCAGGAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF11,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000243644	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000243644	Transcript	.	.	ENSG00000256683	16656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN350_HUMAN	ZNF350	HGNC	M0R1T8_HUMAN,M0R017_HUMAN,M0QYT6_HUMAN,M0QY52_HUMAN	.	UPI00000721F1	SNV	ZNF350,synonymous_variant,p.%3D,ENST00000593596,;ZNF350,synonymous_variant,p.%3D,ENST00000243644,;ZNF350,synonymous_variant,p.%3D,ENST00000594929,;ZNF350,synonymous_variant,p.%3D,ENST00000597788,;ZNF350,5_prime_UTR_variant,,ENST00000601430,;HCCAT3,intron_variant,,ENST00000600253,;HCCAT3,intron_variant,,ENST00000595010,;ZNF350,non_coding_transcript_exon_variant,,ENST00000600703,;ZNF350,non_coding_transcript_exon_variant,,ENST00000598254,;ZNF350,downstream_gene_variant,,ENST00000597555,;	303	116	138	SUCCESS
ZNF471	57573	.	GRCh37	19	57037267	57037267	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs140019625	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	23	134	0	ENST00000308031.5:c.1831A>C	p.Lys611Gln	p.K611Q	ENST00000308031	NM_020813.2	611	Aag/Cag	0	T:0.0002	.	.	.	.	C	K/Q	protein_coding	YES	CCDS12945.1	1831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAAGTTA	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF212,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	T:0	ENSP00000309161	.	5/5	.	.	.	.	.	.	.	.	rs140019625	5/5	PASS	ENST00000308031	Transcript	.	.	ENSG00000196263	23226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.06)	.	ZN471_HUMAN	ZNF471	HGNC	K7EPX1_HUMAN	.	UPI0000073465	SNV	ZNF471,missense_variant,p.Lys611Gln,ENST00000308031,;ZNF471,3_prime_UTR_variant,,ENST00000591537,;ZNF471,non_coding_transcript_exon_variant,,ENST00000593197,;	1964	134	151	SUCCESS
AGL	178	.	GRCh37	1	100366399	100366399	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	18	115	0	ENST00000294724.4:c.3570T>G	p.Pro1190=	p.P1190=	ENST00000294724	NM_000028.2	1190	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS759.1	3570	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTTTGCC	NONE	.	.	hmmpanther:PTHR10569,Pfam_domain:PF06202,TIGRFAM_domain:TIGR01531,Superfamily_domains:SSF48208	.	.	ENSP00000294724	.	26/34	.	.	.	.	.	.	.	.	.	26/34	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,synonymous_variant,p.%3D,ENST00000370163,;AGL,synonymous_variant,p.%3D,ENST00000361302,;AGL,synonymous_variant,p.%3D,ENST00000294724,;AGL,synonymous_variant,p.%3D,ENST00000370165,;AGL,synonymous_variant,p.%3D,ENST00000361522,;AGL,synonymous_variant,p.%3D,ENST00000370161,;AGL,synonymous_variant,p.%3D,ENST00000361915,;	4048	115	106	SUCCESS
SPAG17	200162	.	GRCh37	1	118574431	118574431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	27	154	0	ENST00000336338.5:c.3493G>T	p.Val1165Leu	p.V1165L	ENST00000336338	NM_206996.2	1165	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS899.1	3493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCACTGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21963	.	.	ENSP00000337804	.	25/49	.	.	.	.	.	.	.	.	.	25/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	tolerated(0.1)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Val1165Leu,ENST00000336338,;SPAG17,non_coding_transcript_exon_variant,,ENST00000486589,;SPAG17,non_coding_transcript_exon_variant,,ENST00000470550,;	3559	154	141	SUCCESS
ANP32E	81611	.	GRCh37	1	150204152	150204152	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1553841795	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	60	0	ENST00000314136.8:c.167C>T	p.Ser56Leu	p.S56L	ENST00000314136	NM_001136478.3	56	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS946.1	167	MUTECT|MUSE|VARSCANS	.	CCAGCGAACTT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000324074	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000314136	Transcript	.	.	ENSG00000143401	16673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	AN32E_HUMAN	ANP32E	HGNC	Q53F20_HUMAN	.	UPI0000071679	SNV	ANP32E,missense_variant,p.Ser56Leu,ENST00000533654,;ANP32E,missense_variant,p.Ser56Leu,ENST00000369114,;ANP32E,missense_variant,p.Ser8Leu,ENST00000369119,;ANP32E,missense_variant,p.Ser56Leu,ENST00000436748,;ANP32E,missense_variant,p.Ser56Leu,ENST00000314136,;ANP32E,intron_variant,,ENST00000534220,;ANP32E,intron_variant,,ENST00000369116,;ANP32E,intron_variant,,ENST00000369115,;ANP32E,intron_variant,,ENST00000532744,;	537	60	94	SUCCESS
TROVE2	0	.	GRCh37	1	193045776	193045776	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	41	207	0	ENST00000367446.3:c.947A>G	p.Lys316Arg	p.K316R	ENST00000367446	NM_004600.5	316	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1379.1	947	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAGGTAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50988,hmmpanther:PTHR14202:SF0,hmmpanther:PTHR14202,Pfam_domain:PF05731,Superfamily_domains:0051422	.	.	ENSP00000356416	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000367446	Transcript	.	.	ENSG00000116747	11313	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.28)	.	RO60_HUMAN	TROVE2	HGNC	G5E9R9_HUMAN,D6RDN1_HUMAN	.	UPI0000072E7F	SNV	TROVE2,missense_variant,p.Lys316Arg,ENST00000367444,;TROVE2,missense_variant,p.Lys41Arg,ENST00000432079,;TROVE2,missense_variant,p.Lys41Arg,ENST00000416058,;TROVE2,missense_variant,p.Lys316Arg,ENST00000400968,;TROVE2,missense_variant,p.Lys316Arg,ENST00000367441,;TROVE2,missense_variant,p.Lys316Arg,ENST00000367446,;TROVE2,missense_variant,p.Lys316Arg,ENST00000367443,;TROVE2,missense_variant,p.Lys316Arg,ENST00000367445,;TROVE2,downstream_gene_variant,,ENST00000415442,;TROVE2,downstream_gene_variant,,ENST00000512587,;TROVE2,splice_region_variant,,ENST00000460715,;	1157	207	280	SUCCESS
ADORA1	134	.	GRCh37	1	203134623	203134623	+	synonymous_variant	Silent	SNP	G	G	A	rs201445170	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	27	114	0	ENST00000309502.3:c.576G>A	p.Pro192=	p.P192=	ENST00000309502		192	ccG/ccA	0	A:0	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS1434.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCTTCT	NONE	byFrequency|byCluster|by1000G	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24246:SF1,hmmpanther:PTHR24246,PROSITE_profiles:PS50262,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	A:0.001	A:0.0001	ENSP00000356205	A:0.001	3/3	.	.	.	.	.	.	.	.	rs201445170	3/3	common_in_exac	ENST00000367236	Transcript	.	A:0.0028	ENSG00000163485	262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0112	.	.	AA1R_HUMAN	ADORA1	HGNC	.	.	UPI00000503E1	SNV	ADORA1,synonymous_variant,p.%3D,ENST00000367236,;ADORA1,synonymous_variant,p.%3D,ENST00000309502,;ADORA1,synonymous_variant,p.%3D,ENST00000337894,;ADORA1,3_prime_UTR_variant,,ENST00000367235,;MYBPH,downstream_gene_variant,,ENST00000255416,;ADORA1,non_coding_transcript_exon_variant,,ENST00000467253,;ADORA1,non_coding_transcript_exon_variant,,ENST00000472535,;ADORA1,non_coding_transcript_exon_variant,,ENST00000464019,;	1497	114	112	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232649711	232649711	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	92	0	ENST00000262861.4:c.1375G>A	p.Glu459Lys	p.E459K	ENST00000262861	NM_020808.3	459	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41474.1	1375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCCAAGA	BUFFER|p.V457I|c.1369G>A|3	.	.	hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Glu459Lys,ENST00000366630,;SIPA1L2,missense_variant,p.Glu459Lys,ENST00000262861,;	1734	92	111	SUCCESS
KDM1A	23028	.	GRCh37	1	23376902	23376902	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs140730970	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	83	0	ENST00000356634.3:c.540G>T	p.Gln180His	p.Q180H	ENST00000356634	NM_015013.3	180	caG/caT	0	A:0.0002	.	.	.	.	T	Q/H	protein_coding	YES	CCDS53278.1	600	MUTECT|MUSE	.	TTCCAGAGCCG	NONE	byCluster	.	PROSITE_profiles:PS50934,hmmpanther:PTHR10742:SF245,hmmpanther:PTHR10742,Pfam_domain:PF04433,Gene3D:1.10.10.10,PIRSF_domain:PIRSF038051,Superfamily_domains:SSF46689	.	A:0.0001	ENSP00000383042	.	4/21	.	.	.	.	.	.	.	.	rs140730970	4/21	PASS	ENST00000400181	Transcript	.	.	ENSG00000004487	29079	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.496)	.	deleterious(0.05)	.	KDM1A_HUMAN	KDM1A	HGNC	.	.	UPI0000403137	SNV	KDM1A,missense_variant,p.Gln180His,ENST00000356634,;KDM1A,missense_variant,p.Gln200His,ENST00000542151,;KDM1A,missense_variant,p.Gln200His,ENST00000400181,;RP1-184J9.2,intron_variant,,ENST00000427154,;KDM1A,upstream_gene_variant,,ENST00000481879,;	704	83	58	SUCCESS
IDH3B	3420	.	GRCh37	20	2640223	2640223	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1568547187	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	58	0	ENST00000380843.4:c.1019A>G	p.Tyr340Cys	p.Y340C	ENST00000380843	NM_006899.3	340	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13032.1	1019	MUTECT|MUSE	.	AGTGATACTCA	NONE	.	.	hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF39,TIGRFAM_domain:TIGR00175,Gene3D:3.40.718.10,Pfam_domain:PF00180,Superfamily_domains:SSF53659	.	.	ENSP00000370223	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000380843	Transcript	1	.	ENSG00000101365	5385	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.843)	.	tolerated(0.06)	.	IDH3B_HUMAN	IDH3B	HGNC	Q9UIC5_HUMAN,B4DU38_HUMAN	.	UPI000013CBC6	SNV	IDH3B,missense_variant,p.Tyr340Cys,ENST00000380851,;IDH3B,missense_variant,p.Tyr340Cys,ENST00000380843,;NOP56,downstream_gene_variant,,ENST00000445139,;NOP56,downstream_gene_variant,,ENST00000329276,;NOP56,downstream_gene_variant,,ENST00000415272,;SNORD86,downstream_gene_variant,,ENST00000391196,;SNORA51,downstream_gene_variant,,ENST00000606420,;SNORD57,downstream_gene_variant,,ENST00000448188,;SNORD56,downstream_gene_variant,,ENST00000413522,;RP4-686C3.7,upstream_gene_variant,,ENST00000418739,;IDH3B,non_coding_transcript_exon_variant,,ENST00000474315,;IDH3B,non_coding_transcript_exon_variant,,ENST00000492240,;IDH3B,non_coding_transcript_exon_variant,,ENST00000488299,;IDH3B,non_coding_transcript_exon_variant,,ENST00000466999,;IDH3B,non_coding_transcript_exon_variant,,ENST00000477689,;IDH3B,non_coding_transcript_exon_variant,,ENST00000466494,;IDH3B,downstream_gene_variant,,ENST00000462967,;NOP56,downstream_gene_variant,,ENST00000480992,;IDH3B,downstream_gene_variant,,ENST00000491065,;NOP56,downstream_gene_variant,,ENST00000480447,;NOP56,downstream_gene_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000466447,;NOP56,downstream_gene_variant,,ENST00000471023,;NOP56,downstream_gene_variant,,ENST00000492135,;NOP56,downstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,downstream_gene_variant,,ENST00000462630,;NOP56,downstream_gene_variant,,ENST00000490753,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000460258,;NOP56,downstream_gene_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000479376,;NOP56,downstream_gene_variant,,ENST00000467196,;	1050	58	60	SUCCESS
PHACTR3	116154	.	GRCh37	20	58330406	58330406	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	42	0	ENST00000371015.1:c.528C>A	p.His176Gln	p.H176Q	ENST00000371015	NM_080672.4	176	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS13480.1	528	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACTTGGA	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.48)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.His135Gln,ENST00000355648,;PHACTR3,missense_variant,p.His135Gln,ENST00000541461,;PHACTR3,missense_variant,p.His135Gln,ENST00000361300,;PHACTR3,missense_variant,p.His135Gln,ENST00000395636,;PHACTR3,missense_variant,p.His176Gln,ENST00000371015,;PHACTR3,missense_variant,p.His135Gln,ENST00000395639,;PHACTR3,missense_variant,p.His173Gln,ENST00000359926,;	995	42	48	SUCCESS
OR11H1	81061	.	GRCh37	22	16449128	16449128	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752481512	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	29	223	0	ENST00000252835.4:c.677T>A	p.Phe226Tyr	p.F226Y	ENST00000252835	NM_001005239.1	226	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS33594.1	677	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGAAGTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000252835	.	1/1	.	.	.	.	.	.	.	.	rs752481512	1/1	PASS	ENST00000252835	Transcript	.	.	ENSG00000130538	15404	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	O11H1_HUMAN	OR11H1	HGNC	.	.	UPI000004B1CF	SNV	OR11H1,missense_variant,p.Phe226Tyr,ENST00000252835,;	678	223	209	SUCCESS
SLC39A10	57181	.	GRCh37	2	196593046	196593046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	24	124	0	ENST00000359634.5:c.2310G>A	p.Met770Ile	p.M770I	ENST00000359634	NM_020342.2	770	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33353.1	2310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGTTCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000386766	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	tolerated(0.08)	.	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Met770Ile,ENST00000409086,;SLC39A10,missense_variant,p.Met320Ile,ENST00000541054,;SLC39A10,missense_variant,p.Met770Ile,ENST00000359634,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;	2585	124	140	SUCCESS
HS1BP3	64342	.	GRCh37	2	20818882	20818882	+	synonymous_variant	Silent	SNP	G	G	T	rs139786951	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	88	0	ENST00000304031.3:c.1044C>A	p.Pro348=	p.P348=	ENST00000304031	NM_022460.3	348	ccC/ccA	0	T:0.0005	.	.	.	.	T	P	protein_coding	YES	CCDS1700.1	1044	RADIA|MUTECT|MUSE	.	GCTTTGGGGGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14431:SF0,hmmpanther:PTHR14431	.	T:0.0008	ENSP00000305193	.	7/7	.	.	.	.	.	.	.	.	rs139786951	7/7	common_in_exac	ENST00000304031	Transcript	.	.	ENSG00000118960	24979	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H1BP3_HUMAN	HS1BP3	HGNC	.	.	UPI000013E92A	SNV	HS1BP3,synonymous_variant,p.%3D,ENST00000304031,;HS1BP3,intron_variant,,ENST00000415264,;HS1BP3,downstream_gene_variant,,ENST00000445102,;HS1BP3,downstream_gene_variant,,ENST00000458740,;HS1BP3,intron_variant,,ENST00000446825,;	1070	88	68	SUCCESS
PTH2R	5746	.	GRCh37	2	209345847	209345847	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs151296979	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	19	193	0	ENST00000272847.2:c.1034G>T	p.Trp345Leu	p.W345L	ENST00000272847	NM_005048.3	345	tGg/tTg	0	T:0	T:0	.	T:0	.	T	W/L	protein_coding	YES	CCDS2383.1	1034	MUTECT|MUSE|VARSCANS	.	AATCTGGGAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	T:0	T:0.0002	ENSP00000272847	T:0.001	10/13	.	.	.	.	.	.	.	.	rs151296979,COSM573072	10/13	PASS	ENST00000272847	Transcript	.	T:0.0002	ENSG00000144407	9609	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.9)	T:0	tolerated(0.19)	0,1	PTH2R_HUMAN	PTH2R	HGNC	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN	.	UPI000005041E	SNV	PTH2R,missense_variant,p.Trp345Leu,ENST00000272847,;AC019185.4,intron_variant,,ENST00000424628,;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;	1247	193	224	SUCCESS
MSH6	2956	.	GRCh37	2	48010529	48010544	+	frameshift_variant	Frame_Shift_Del	DEL	GCTGGGCCTGGGCCCA	GCTGGGCCTGGGCCCA	-	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	GCTGGGCCTGGGCCCA	GCTGGGCCTGGGCCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	68	0	ENST00000234420.5:c.158_173del	p.Ala53GlyfsTer23	p.A53Gfs*23	ENST00000234420	NM_000179.2	53	GCTGGGCCTGGGCCCAgg/gg	0	.	.	.	.	.	-	AGPGPR/X	protein_coding	YES	CCDS1836.1	157-172	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCGAGGCTGGGCCTGGGCCCAGGCCC	NONE	.	.	PIRSF_domain:PIRSF037677	.	.	ENSP00000234420	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000234420	Transcript	.	.	ENSG00000116062	7329	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSH6_HUMAN	MSH6	HGNC	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN	.	UPI00000405F8	deletion	MSH6,frameshift_variant,p.Ala53GlyfsTer23,ENST00000234420,;MSH6,frameshift_variant,p.Ala53GlyfsTer23,ENST00000540021,;MSH6,intron_variant,,ENST00000606499,;MSH6,upstream_gene_variant,,ENST00000411819,;MSH6,upstream_gene_variant,,ENST00000538136,;MSH6,upstream_gene_variant,,ENST00000420813,;MSH6,upstream_gene_variant,,ENST00000455383,;RNU6-688P,downstream_gene_variant,,ENST00000516063,;MSH6,non_coding_transcript_exon_variant,,ENST00000493177,;MSH6,frameshift_variant,p.Ala53GlyfsTer23,ENST00000445503,;MSH6,frameshift_variant,p.Ala53GlyfsTer23,ENST00000456246,;	309-324	68	85	SUCCESS
PCBP1	5093	.	GRCh37	2	70315623	70315623	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs548418658	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	21	130	0	ENST00000303577.5:c.748A>G	p.Met250Val	p.M250V	ENST00000303577	NM_006196.3	250	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS1898.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCATGATG	NONE	.	.	hmmpanther:PTHR10288:SF96,hmmpanther:PTHR10288	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	rs548418658	1/1	PASS	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.31)	.	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	SNV	PCBP1,missense_variant,p.Met250Val,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;PCBP1-AS1,non_coding_transcript_exon_variant,,ENST00000452431,;PCBP1-AS1,intron_variant,,ENST00000596028,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;	1039	130	130	SUCCESS
DZIP3	9666	.	GRCh37	3	108373111	108373111	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	19	139	0	ENST00000361582.3:c.2153A>G	p.Lys718Arg	p.K718R	ENST00000361582	NM_014648.3	718	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2952.1	2153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAAGTTCT	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious_low_confidence(0.04)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.Lys718Arg,ENST00000463306,;DZIP3,missense_variant,p.Lys718Arg,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	2383	139	112	SUCCESS
POLQ	10721	.	GRCh37	3	121209009	121209009	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	130	0	ENST00000264233.5:c.2769T>A	p.Phe923Leu	p.F923L	ENST00000264233	NM_199420.3	923	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS33833.1	2769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATAAATGT	NONE	.	.	.	.	.	ENSP00000264233	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Phe923Leu,ENST00000264233,;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	2898	130	107	SUCCESS
ITGB5	3693	.	GRCh37	3	124592378	124592378	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	rs776086250	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	16	101	0	ENST00000296181.4:c.71G>C	p.Gly24Ala	p.G24A	ENST00000296181	NM_002213.3	24	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS3030.1	71	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGACCTTTA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,PIRSF_domain:PIRSF002512	.	.	ENSP00000296181	.	2/15	.	.	.	.	.	.	.	.	rs776086250	2/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Gly24Ala,ENST00000296181,;ITGB5,splice_region_variant,,ENST00000608657,;ITGB5,splice_region_variant,,ENST00000608107,;ITGB5,splice_region_variant,,ENST00000483168,;ITGB5,splice_region_variant,,ENST00000465464,;	368	101	96	SUCCESS
KLF15	28999	.	GRCh37	3	126071187	126071235	+	frameshift_variant	Frame_Shift_Del	DEL	GGAACAGCGCTCTCTCCCGCTGGACCCAGGATGGAGGTGGCTCTTGTGT	GGAACAGCGCTCTCTCCCGCTGGACCCAGGATGGAGGTGGCTCTTGTGT	-	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	GGAACAGCGCTCTCTCCCGCTGGACCCAGGATGGAGGTGGCTCTTGTGT	GGAACAGCGCTCTCTCCCGCTGGACCCAGGATGGAGGTGGCTCTTGTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	107	13	122	0	ENST00000296233.3:c.531_579del	p.His178LeufsTer35	p.H178Lfs*35	ENST00000296233	NM_014079.3	177	ccACACAAGAGCCACCTCCATCCTGGGTCCAGCGGGAGAGAGCGCTGTTCC/cc	0	.	.	.	.	.	-	PHKSHLHPGSSGRERCS/X	protein_coding	YES	CCDS3036.1	531-579	VARSCANI*|PINDEL	.	TGGAGGGGAACAGCGCTCTCTCCCGCTGGACCCAGGATGGAGGTGGCTCTTGTGTGGCCC	NONE	.	.	hmmpanther:PTHR23223:SF146,hmmpanther:PTHR23223	.	.	ENSP00000296233	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000296233	Transcript	.	.	ENSG00000163884	14536	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLF15_HUMAN	KLF15	HGNC	.	.	UPI0000001659	deletion	KLF15,frameshift_variant,p.His178LeufsTer35,ENST00000296233,;KLF15,downstream_gene_variant,,ENST00000509675,;	762-810	122	120	SUCCESS
COL6A6	131873	.	GRCh37	3	130346161	130346161	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	28	152	0	ENST00000358511.6:c.4942-2A>C		p.X1648_splice	ENST00000358511	NM_001102608.1	1648		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46911.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACAGGGCA	NONE	.	.	.	.	.	ENSP00000351310	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	HIGH	24/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,splice_acceptor_variant,,ENST00000453409,;COL6A6,splice_acceptor_variant,,ENST00000358511,;COL6A6,splice_acceptor_variant,,ENST00000506143,;	.	152	164	SUCCESS
SH3BP5	9467	.	GRCh37	3	15300545	15300545	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	78	0	ENST00000383791.3:c.682A>G	p.Thr228Ala	p.T228A	ENST00000383791	NM_004844.4	228	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2625.2	682	MUTECT|MUSE	.	CACAGTCTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19423,hmmpanther:PTHR19423:SF3,Pfam_domain:PF05276	.	.	ENSP00000373301	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000383791	Transcript	.	.	ENSG00000131370	10827	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.73)	.	3BP5_HUMAN	SH3BP5	HGNC	Q6MZG3_HUMAN,C9JNW0_HUMAN,C9JK30_HUMAN,B2R7Y8_HUMAN	.	UPI00004C3DB7	SNV	SH3BP5,missense_variant,p.Thr71Ala,ENST00000408919,;SH3BP5,missense_variant,p.Thr228Ala,ENST00000383791,;SH3BP5,missense_variant,p.Thr71Ala,ENST00000366391,;SH3BP5,missense_variant,p.Thr71Ala,ENST00000426925,;SH3BP5,missense_variant,p.Thr71Ala,ENST00000253688,;SH3BP5,downstream_gene_variant,,ENST00000417936,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000436602,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000420195,;SH3BP5-AS1,downstream_gene_variant,,ENST00000413977,;SH3BP5,intron_variant,,ENST00000412806,;SH3BP5,downstream_gene_variant,,ENST00000450625,;	903	78	80	SUCCESS
ACTL6A	86	.	GRCh37	3	179304415	179304415	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776764775	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	41	0	ENST00000429709.2:c.1204T>C	p.Ser402Pro	p.S402P	ENST00000429709	NM_004301.3	402	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3231.1	1204	RADIA|MUTECT|MUSE	.	TAGCCTCTTTG	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF191,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000397552	.	13/14	.	.	.	.	.	.	.	.	rs776764775	13/14	PASS	ENST00000429709	Transcript	.	.	ENSG00000136518	24124	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ACL6A_HUMAN	ACTL6A	HGNC	D3DNS0_HUMAN,C9JQT2_HUMAN	.	UPI0000001655	SNV	ACTL6A,missense_variant,p.Ser360Pro,ENST00000392662,;ACTL6A,missense_variant,p.Ser360Pro,ENST00000450518,;ACTL6A,missense_variant,p.Ser402Pro,ENST00000429709,;MRPL47,downstream_gene_variant,,ENST00000476781,;MRPL47,downstream_gene_variant,,ENST00000392659,;MRPL47,downstream_gene_variant,,ENST00000259038,;RP11-145M9.6,upstream_gene_variant,,ENST00000610007,;RP11-15L13.4,upstream_gene_variant,,ENST00000608818,;ACTL6A,non_coding_transcript_exon_variant,,ENST00000484312,;ACTL6A,non_coding_transcript_exon_variant,,ENST00000461125,;	1417	41	50	SUCCESS
ACTL6A	86	.	GRCh37	3	179304422	179304422	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	39	0	ENST00000429709.2:c.1209+2T>G		p.X403_splice	ENST00000429709	NM_004301.3	403		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3231.1	.	RADIA|MUTECT|MUSE	.	TTTGGTTAGTA	NONE	.	.	.	.	.	ENSP00000397552	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429709	Transcript	.	.	ENSG00000136518	24124	.	.	HIGH	13/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACL6A_HUMAN	ACTL6A	HGNC	D3DNS0_HUMAN,C9JQT2_HUMAN	.	UPI0000001655	SNV	ACTL6A,splice_donor_variant,,ENST00000392662,;ACTL6A,splice_donor_variant,,ENST00000450518,;ACTL6A,splice_donor_variant,,ENST00000429709,;MRPL47,downstream_gene_variant,,ENST00000476781,;MRPL47,downstream_gene_variant,,ENST00000392659,;MRPL47,downstream_gene_variant,,ENST00000259038,;RP11-145M9.6,upstream_gene_variant,,ENST00000610007,;RP11-15L13.4,upstream_gene_variant,,ENST00000608818,;ACTL6A,splice_donor_variant,,ENST00000461125,;ACTL6A,non_coding_transcript_exon_variant,,ENST00000484312,;	.	39	48	SUCCESS
MAP3K13	9175	.	GRCh37	3	185146704	185146704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	22	146	0	ENST00000265026.3:c.335G>T	p.Gly112Val	p.G112V	ENST00000265026	NM_004721.4	112	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3270.1	335	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGGAACTG	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF336,PIRSF_domain:PIRSF038165,PIRSF_domain:PIRSF500742	.	.	ENSP00000265026	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000265026	Transcript	.	.	ENSG00000073803	6852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.197)	.	tolerated(0.06)	.	M3K13_HUMAN	MAP3K13	HGNC	C9JP65_HUMAN,C9J4W2_HUMAN	.	UPI000006CF91	SNV	MAP3K13,missense_variant,p.Gly112Val,ENST00000428617,;MAP3K13,missense_variant,p.Gly112Val,ENST00000424227,;MAP3K13,missense_variant,p.Gly112Val,ENST00000447637,;MAP3K13,missense_variant,p.Gly112Val,ENST00000265026,;MAP3K13,intron_variant,,ENST00000535426,;MAP3K13,intron_variant,,ENST00000443863,;MAP3K13,intron_variant,,ENST00000446828,;MAP3K13,missense_variant,p.Gly112Val,ENST00000438053,;MAP3K13,missense_variant,p.Gly112Val,ENST00000439882,;MAP3K13,missense_variant,p.Gly112Val,ENST00000433092,;	669	146	175	SUCCESS
BCL6	604	.	GRCh37	3	187446200	187446200	+	synonymous_variant	Silent	SNP	C	C	T	rs370060611	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	89	0	ENST00000232014.4:c.1488G>A	p.Thr496=	p.T496=	ENST00000232014	NM_001130845.1	496	acG/acA	0	T:0	T:0	.	T:0.0014	.	T	T	protein_coding	YES	CCDS3289.1	1488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAACGTGGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23228:SF88,hmmpanther:PTHR23228	T:0	T:0.0001	ENSP00000384371	T:0	6/10	.	.	.	.	.	.	.	.	rs370060611	6/10	PASS	ENST00000406870	Transcript	.	T:0.0002	ENSG00000113916	1001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	BCL6_HUMAN	BCL6	HGNC	C9JL16_HUMAN,C9JCS5_HUMAN	.	UPI000012682C	SNV	BCL6,synonymous_variant,p.%3D,ENST00000232014,;BCL6,synonymous_variant,p.%3D,ENST00000450123,;BCL6,synonymous_variant,p.%3D,ENST00000406870,;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,downstream_gene_variant,,ENST00000430339,;BCL6,downstream_gene_variant,,ENST00000438077,;BCL6,downstream_gene_variant,,ENST00000480458,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,upstream_gene_variant,,ENST00000479110,;	1855	89	93	SUCCESS
NR1D2	9975	.	GRCh37	3	24009404	24009404	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766722837	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	100	0	ENST00000312521.4:c.1433G>T	p.Gly478Val	p.G478V	ENST00000312521	NM_005126.4	478	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33718.1	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGAGCAG	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF112,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000310006	.	7/8	.	.	.	.	.	.	.	.	rs766722837,COSM238542	7/8	PASS	ENST00000312521	Transcript	.	.	ENSG00000174738	7963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	NR1D2_HUMAN	NR1D2	HGNC	.	.	UPI0000209A6C	SNV	NR1D2,missense_variant,p.Gly478Val,ENST00000312521,;NR1D2,non_coding_transcript_exon_variant,,ENST00000492552,;NR1D2,3_prime_UTR_variant,,ENST00000383773,;NR1D2,non_coding_transcript_exon_variant,,ENST00000472780,;	1752	100	101	SUCCESS
SLC4A7	9497	.	GRCh37	3	27490188	27490188	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	125	0	ENST00000295736.5:c.216A>C	p.Lys72Asn	p.K72N	ENST00000295736	NM_003615.4	72	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS33721.1	216	RADIA|MUTECT|MUSE	.	TTATCTTTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36	.	.	ENSP00000295736	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000295736	Transcript	.	.	ENSG00000033867	11033	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.199)	.	tolerated(0.11)	.	S4A7_HUMAN	SLC4A7	HGNC	.	.	UPI0000DBEEB7	SNV	SLC4A7,missense_variant,p.Lys77Asn,ENST00000425128,;SLC4A7,missense_variant,p.Lys81Asn,ENST00000435667,;SLC4A7,missense_variant,p.Lys81Asn,ENST00000445684,;SLC4A7,missense_variant,p.Lys81Asn,ENST00000454389,;SLC4A7,missense_variant,p.Lys72Asn,ENST00000428386,;SLC4A7,missense_variant,p.Lys81Asn,ENST00000440156,;SLC4A7,missense_variant,p.Lys77Asn,ENST00000437179,;SLC4A7,missense_variant,p.Lys72Asn,ENST00000295736,;SLC4A7,missense_variant,p.Lys77Asn,ENST00000455077,;SLC4A7,missense_variant,p.Lys77Asn,ENST00000446700,;SLC4A7,missense_variant,p.Lys72Asn,ENST00000428179,;SLC4A7,5_prime_UTR_variant,,ENST00000388777,;SLC4A7,missense_variant,p.Lys77Asn,ENST00000438530,;SLC4A7,missense_variant,p.Lys77Asn,ENST00000457377,;SLC4A7,missense_variant,p.Lys77Asn,ENST00000437266,;SLC4A7,non_coding_transcript_exon_variant,,ENST00000428005,;	287	125	93	SUCCESS
CADPS	8618	.	GRCh37	3	62860303	62860303	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	85	0	ENST00000383710.4:c.402T>G	p.Asn134Lys	p.N134K	ENST00000383710	NM_003716.3	134	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS46858.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCATTAAA	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Asn134Lys,ENST00000357948,;CADPS,missense_variant,p.Asn134Lys,ENST00000283269,;CADPS,missense_variant,p.Asn134Lys,ENST00000383710,;CADPS,missense_variant,p.Asn134Lys,ENST00000490353,;	752	85	86	SUCCESS
GRM7	2917	.	GRCh37	3	7620315	7620315	+	synonymous_variant	Silent	SNP	C	C	T	rs763131797	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	103	0	ENST00000357716.4:c.1722C>T	p.Thr574=	p.T574=	ENST00000357716	NM_000844.3	574	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43042.1	1722	RADIA|MUTECT|MUSE|VARSCANS	.	CGAACCGGATG	NONE	.	.	hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	rs763131797	8/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,synonymous_variant,p.%3D,ENST00000402647,;GRM7,synonymous_variant,p.%3D,ENST00000486284,;GRM7,synonymous_variant,p.%3D,ENST00000389336,;GRM7,synonymous_variant,p.%3D,ENST00000357716,;GRM7,synonymous_variant,p.%3D,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,synonymous_variant,p.%3D,ENST00000389335,;GRM7,synonymous_variant,p.%3D,ENST00000467425,;GRM7,synonymous_variant,p.%3D,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	1996	103	100	SUCCESS
C1QTNF7	114905	.	GRCh37	4	15443998	15443998	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372857232	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	43	195	0	ENST00000429690.1:c.445G>A	p.Ala149Thr	p.A149T	ENST00000429690	NM_001135171.1	149	Gcc/Acc	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS47025.1	466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGCCTTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF15,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	A:0.0001	ENSP00000295297	.	3/3	.	.	.	.	.	.	.	.	rs372857232	3/3	PASS	ENST00000295297	Transcript	.	.	ENSG00000163145	14342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	C1QT7_HUMAN	C1QTNF7	HGNC	J3KPK0_HUMAN	.	UPI000004E7F9	SNV	C1QTNF7,missense_variant,p.Ala149Thr,ENST00000444304,;C1QTNF7,missense_variant,p.Ala156Thr,ENST00000295297,;C1QTNF7,missense_variant,p.Ala149Thr,ENST00000429690,;C1QTNF7,downstream_gene_variant,,ENST00000397700,;C1QTNF7,downstream_gene_variant,,ENST00000382383,;	725	195	219	SUCCESS
FGA	2243	.	GRCh37	4	155507643	155507643	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	9	153	0	ENST00000302053.3:c.938C>T	p.Ser313Phe	p.S313F	ENST00000302053	NM_000508.3	313	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS3787.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGAGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.485)	.	deleterious_low_confidence(0.03)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Ser313Phe,ENST00000302053,;FGA,missense_variant,p.Ser313Phe,ENST00000403106,;	1017	153	97	SUCCESS
HTT	3064	.	GRCh37	4	3237461	3237461	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752690276	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	33	0	ENST00000355072.5:c.8741G>T	p.Arg2914Leu	p.R2914L	ENST00000355072	NM_002111.6	2914	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43206.1	8741	MUTECT|MUSE	.	GCACCGGGCCA	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	63/67	.	.	.	.	.	.	.	.	rs752690276,COSM1054900	63/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.999)	.	.	0,1	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Arg2914Leu,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000508321,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	8886	33	44	SUCCESS
TMEM128	85013	.	GRCh37	4	4249400	4249401	+	intron_variant	Intron	INS	-	-	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	70	0	ENST00000382753.4:c.97+432dup		p.*33*	ENST00000382753				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3373.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTACATACGAG	NONE	.	.	.	.	.	ENSP00000254742	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000254742	Transcript	.	.	ENSG00000132406	28201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM128_HUMAN	TMEM128	HGNC	.	.	UPI0000073696	insertion	TMEM128,5_prime_UTR_variant,,ENST00000254742,;TMEM128,intron_variant,,ENST00000540397,;TMEM128,intron_variant,,ENST00000382753,;TMEM128,intron_variant,,ENST00000538516,;	539-540	70	97	SUCCESS
GABRG1	2565	.	GRCh37	4	46060363	46060363	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	275	51	359	0	ENST00000295452.4:c.787T>C	p.Phe263Leu	p.F263L	ENST00000295452	NM_173536.3	263	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS3470.1	787	RADIA|SOMATICSNIPER|VARSCANS	.	AAAAAAAATTG	BUFFER|p.F264fs*3|c.792delT|3	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000295452	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.371)	.	tolerated(0.07)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Phe263Leu,ENST00000295452,;	955	359	326	SUCCESS
LPHN3	0	.	GRCh37	4	62363023	62363023	+	synonymous_variant	Silent	SNP	G	G	A	rs371504666	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	76	0	ENST00000514591.1:c.12G>A	p.Ser4=	p.S4=	ENST00000514591		4	tcG/tcA	0	A:0.0005	A:0.0008	.	A:0	.	A	S	protein_coding	YES	CCDS54768.1	12	MUTECT|MUSE	.	CCATCGCAGCT	NONE	byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60	A:0	A:0	ENSP00000422533	A:0	3/25	.	.	.	.	.	.	.	.	rs371504666,COSM3302683,COSM3302682,COSM3302681	3/25	PASS	ENST00000514591	Transcript	.	A:0.0002	ENSG00000150471	20974	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	.	A:0	.	0,1,1,1	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,synonymous_variant,p.%3D,ENST00000506720,;LPHN3,synonymous_variant,p.%3D,ENST00000545650,;LPHN3,synonymous_variant,p.%3D,ENST00000507625,;LPHN3,synonymous_variant,p.%3D,ENST00000504896,;LPHN3,synonymous_variant,p.%3D,ENST00000508946,;LPHN3,synonymous_variant,p.%3D,ENST00000506700,;LPHN3,synonymous_variant,p.%3D,ENST00000514591,;LPHN3,synonymous_variant,p.%3D,ENST00000514996,;LPHN3,synonymous_variant,p.%3D,ENST00000506746,;LPHN3,synonymous_variant,p.%3D,ENST00000508693,;LPHN3,synonymous_variant,p.%3D,ENST00000514157,;LPHN3,synonymous_variant,p.%3D,ENST00000512091,;LPHN3,synonymous_variant,p.%3D,ENST00000509896,;LPHN3,synonymous_variant,p.%3D,ENST00000511324,;LPHN3,synonymous_variant,p.%3D,ENST00000507164,;	341	76	52	SUCCESS
MEGF10	84466	.	GRCh37	5	126758426	126758426	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	43	167	0	ENST00000274473.6:c.1655C>T	p.Pro552Leu	p.P552L	ENST00000274473	NM_032446.2	552	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4142.1	1655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCTACCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,SMART_domains:SM00180,SMART_domains:SM00181	.	.	ENSP00000274473	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000274473	Transcript	1	.	ENSG00000145794	29634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	deleterious(0)	.	MEG10_HUMAN	MEGF10	HGNC	.	.	UPI000006F868	SNV	MEGF10,missense_variant,p.Pro552Leu,ENST00000508365,;MEGF10,missense_variant,p.Pro552Leu,ENST00000274473,;MEGF10,missense_variant,p.Pro552Leu,ENST00000418761,;MEGF10,missense_variant,p.Pro552Leu,ENST00000503335,;MEGF10,non_coding_transcript_exon_variant,,ENST00000506709,;	1922	167	203	SUCCESS
SLC12A2	6558	.	GRCh37	5	127483379	127483379	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	43	104	0	ENST00000262461.2:c.1839T>G	p.Ser613=	p.S613=	ENST00000262461	NM_001046.2	613	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4144.1	1839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF58,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324	.	.	ENSP00000262461	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,synonymous_variant,p.%3D,ENST00000343225,;SLC12A2,synonymous_variant,p.%3D,ENST00000262461,;SLC12A2,synonymous_variant,p.%3D,ENST00000509205,;	2028	104	144	SUCCESS
HSPA9	3313	.	GRCh37	5	137897301	137897301	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs752706346	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	29	101	0	ENST00000297185.3:c.1150A>C	p.Ile384Leu	p.I384L	ENST00000297185	NM_004134.6	384	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4208.1	1150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATCACTT	NONE	byFrequency	.	HAMAP:MF_00332,hmmpanther:PTHR19375:SF173,hmmpanther:PTHR19375,PROSITE_patterns:PS01036,TIGRFAM_domain:TIGR02350,Pfam_domain:PF00012,Gene3D:3.30.420.40,Superfamily_domains:SSF53067,Prints_domain:PR00301	.	.	ENSP00000297185	.	10/17	.	.	.	.	.	.	.	.	rs752706346	10/17	PASS	ENST00000297185	Transcript	.	.	ENSG00000113013	5244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.6)	.	GRP75_HUMAN	HSPA9	HGNC	D6RJI2_HUMAN,D6RA73_HUMAN	.	UPI000012BA4E	SNV	HSPA9,missense_variant,p.Ile384Leu,ENST00000297185,;SNORD63,upstream_gene_variant,,ENST00000411005,;SNORD63,upstream_gene_variant,,ENST00000384262,;HSPA9,intron_variant,,ENST00000501917,;HSPA9,missense_variant,p.Ile89Leu,ENST00000523929,;HSPA9,non_coding_transcript_exon_variant,,ENST00000508003,;HSPA9,non_coding_transcript_exon_variant,,ENST00000507097,;HSPA9,upstream_gene_variant,,ENST00000524109,;HSPA9,upstream_gene_variant,,ENST00000512328,;	1276	101	116	SUCCESS
CPEB4	80315	.	GRCh37	5	173382953	173382953	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	83	0	ENST00000265085.5:c.2003A>T	p.Asp668Val	p.D668V	ENST00000265085	NM_030627.2	668	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS4390.1	2003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGATGAAT	NONE	.	.	hmmpanther:PTHR12566:SF2,hmmpanther:PTHR12566	.	.	ENSP00000265085	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000265085	Transcript	.	.	ENSG00000113742	21747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CPEB4_HUMAN	CPEB4	HGNC	.	.	UPI000020C179	SNV	CPEB4,missense_variant,p.Asp278Val,ENST00000522336,;CPEB4,missense_variant,p.Asp651Val,ENST00000334035,;CPEB4,missense_variant,p.Asp261Val,ENST00000517880,;CPEB4,missense_variant,p.Asp643Val,ENST00000520867,;CPEB4,missense_variant,p.Asp668Val,ENST00000265085,;CPEB4,downstream_gene_variant,,ENST00000519835,;CPEB4,non_coding_transcript_exon_variant,,ENST00000519467,;	3457	83	88	SUCCESS
THOC3	84321	.	GRCh37	5	175395152	175395152	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	21	145	0	ENST00000265097.4:c.60G>C	p.Ser20=	p.S20=	ENST00000265097	NM_032361.3	20	tcG/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4397.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCGAGCC	NONE	.	.	hmmpanther:PTHR22839	.	.	ENSP00000265097	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000265097	Transcript	.	.	ENSG00000051596	19072	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THOC3_HUMAN	THOC3	HGNC	.	.	UPI000006DDB3	SNV	THOC3,synonymous_variant,p.%3D,ENST00000265097,;THOC3,synonymous_variant,p.%3D,ENST00000513482,;THOC3,intron_variant,,ENST00000514861,;RP11-91H12.3,upstream_gene_variant,,ENST00000509329,;RP11-91H12.3,upstream_gene_variant,,ENST00000511796,;RP11-91H12.3,upstream_gene_variant,,ENST00000502354,;THOC3,upstream_gene_variant,,ENST00000510300,;THOC3,synonymous_variant,p.%3D,ENST00000513006,;THOC3,intron_variant,,ENST00000511062,;THOC3,intron_variant,,ENST00000514250,;THOC3,upstream_gene_variant,,ENST00000513118,;	151	145	200	SUCCESS
TARS	0	.	GRCh37	5	33455170	33455170	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	75	0	ENST00000455217.2:c.673G>T	p.Gly225Trp	p.G225W	ENST00000455217	NM_001258438.1	225	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS58943.1	673	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGGGTAA	NONE	.	.	Superfamily_domains:SSF55186,Gene3D:1tkeA02,TIGRFAM_domain:TIGR00418,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF23,HAMAP:MF_00184	.	.	ENSP00000387710	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000455217	Transcript	.	.	ENSG00000113407	11572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.745)	.	deleterious(0)	.	SYTC_HUMAN	TARS	HGNC	D6RBR8_HUMAN	.	UPI00017A6D60	SNV	TARS,missense_variant,p.Gly192Trp,ENST00000502553,;TARS,missense_variant,p.Gly192Trp,ENST00000265112,;TARS,missense_variant,p.Gly88Trp,ENST00000541634,;TARS,missense_variant,p.Gly225Trp,ENST00000455217,;TARS,missense_variant,p.Gly71Trp,ENST00000414361,;TARS,downstream_gene_variant,,ENST00000514259,;TARS,splice_region_variant,,ENST00000509731,;TARS,splice_region_variant,,ENST00000507716,;TARS,splice_region_variant,,ENST00000508361,;TARS,downstream_gene_variant,,ENST00000513066,;TARS,upstream_gene_variant,,ENST00000504698,;TARS,downstream_gene_variant,,ENST00000505012,;	795	75	61	SUCCESS
IRX1	79192	.	GRCh37	5	3599554	3599556	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	CAT	CAT	.	.	.	.	.	.	.	.	.	.	.	.	.	119	11	127	0	ENST00000302006.3:c.497_499del	p.Ile166del	p.I166del	ENST00000302006	NM_024337.3	164	gcCATc/gcc	0	.	.	.	.	.	-	AI/A	protein_coding	YES	CCDS34132.1	492-494	INDELOCATOR|VARSCANI	.	GCTGGCCATCATCA	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF05920,PROSITE_patterns:PS00027,hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,PROSITE_profiles:PS50071	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	5	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	deletion	IRX1,inframe_deletion,p.Ile166del,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	544-546	127	130	SUCCESS
RICTOR	253260	.	GRCh37	5	38958545	38958545	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	398	10	389	0	ENST00000357387.3:c.2420G>T	p.Arg807Ile	p.R807I	ENST00000357387	NM_152756.3	807	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS34148.1	2420	MUTECT|MUSE	.	TTTACCTCAGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,Pfam_domain:PF14663,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Arg807Ile,ENST00000357387,;RICTOR,missense_variant,p.Arg807Ile,ENST00000296782,;RICTOR,splice_region_variant,,ENST00000503698,;RICTOR,downstream_gene_variant,,ENST00000509567,;RICTOR,splice_region_variant,,ENST00000511516,;	2451	389	408	SUCCESS
FYB	0	.	GRCh37	5	39135012	39135012	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	16	117	0	ENST00000540520.1:c.1650C>A	p.Ile550=	p.I550=	ENST00000540520	NM_001243093.1	550	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS58945.1	1650	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGGATGAT	NONE	.	.	hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF10,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000442840	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000540520	Transcript	.	.	ENSG00000082074	4036	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FYB_HUMAN	FYB	HGNC	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	.	UPI00017A75FB	SNV	FYB,synonymous_variant,p.%3D,ENST00000515010,;FYB,synonymous_variant,p.%3D,ENST00000505428,;FYB,synonymous_variant,p.%3D,ENST00000351578,;FYB,synonymous_variant,p.%3D,ENST00000540520,;FYB,synonymous_variant,p.%3D,ENST00000512982,;	1736	117	128	SUCCESS
UST	10090	.	GRCh37	6	149340294	149340294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	65	0	ENST00000367463.4:c.701T>A	p.Leu234His	p.L234H	ENST00000367463	NM_005715.2	234	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS5213.1	701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTTGAAA	NONE	.	.	hmmpanther:PTHR12129:SF11,hmmpanther:PTHR12129,Pfam_domain:PF03567,Superfamily_domains:SSF52540	.	.	ENSP00000356433	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000367463	Transcript	.	.	ENSG00000111962	17223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	UST_HUMAN	UST	HGNC	.	.	UPI000006EF6A	SNV	UST,missense_variant,p.Leu234His,ENST00000367463,;	804	65	53	SUCCESS
KDM1B	221656	.	GRCh37	6	18171702	18171702	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762700618	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	12	103	0	ENST00000297792.5:c.526G>A	p.Ala176Thr	p.A176T	ENST00000297792		176	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34343.1	526	RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGCTATT	NONE	.	.	PROSITE_profiles:PS51050,hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Pfam_domain:PF07496	.	.	ENSP00000297792	.	7/18	.	.	.	.	.	.	.	.	rs762700618	7/18	PASS	ENST00000297792	Transcript	.	.	ENSG00000165097	21577	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.111)	.	tolerated(0.57)	.	KDM1B_HUMAN	KDM1B	HGNC	Q08EI0_HUMAN	.	UPI000023739E	SNV	KDM1B,missense_variant,p.Ala176Thr,ENST00000388870,;KDM1B,missense_variant,p.Ala176Thr,ENST00000397244,;KDM1B,missense_variant,p.Ala176Thr,ENST00000297792,;KDM1B,intron_variant,,ENST00000546309,;	703	103	115	SUCCESS
HIST1H1T	0	.	GRCh37	6	26108149	26108149	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763588642	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	102	0	ENST00000338379.4:c.173G>A	p.Arg58Gln	p.R58Q	ENST00000338379	NM_005323.3	58	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34349.1	173	MUTECT|MUSE	.	CTACTCGTTCC	NONE	.	.	PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF18,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000341214	.	1/1	.	.	.	.	.	.	.	.	rs763588642	1/1	PASS	ENST00000338379	Transcript	.	.	ENSG00000187475	4720	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	H1T_HUMAN	HIST1H1T	HGNC	.	.	UPI000007478C	SNV	HIST1H1T,missense_variant,p.Arg58Gln,ENST00000338379,;HIST1H4C,downstream_gene_variant,,ENST00000377803,;	216	102	106	SUCCESS
VPS52	6293	.	GRCh37	6	33231842	33231842	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	68	0	ENST00000445902.2:c.1563C>T	p.Val521=	p.V521=	ENST00000445902	NM_022553.4	521	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4770.2	1563	RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGACAAG	NONE	.	.	hmmpanther:PTHR14190,Pfam_domain:PF04129	.	.	ENSP00000409952	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,synonymous_variant,p.%3D,ENST00000436044,;VPS52,synonymous_variant,p.%3D,ENST00000445902,;VPS52,3_prime_UTR_variant,,ENST00000482399,;VPS52,non_coding_transcript_exon_variant,,ENST00000493674,;VPS52,non_coding_transcript_exon_variant,,ENST00000478934,;VPS52,non_coding_transcript_exon_variant,,ENST00000471309,;VPS52,upstream_gene_variant,,ENST00000495981,;VPS52,downstream_gene_variant,,ENST00000464425,;VPS52,downstream_gene_variant,,ENST00000463486,;VPS52,non_coding_transcript_exon_variant,,ENST00000461743,;VPS52,downstream_gene_variant,,ENST00000493379,;VPS52,downstream_gene_variant,,ENST00000495755,;	1782	68	89	SUCCESS
ZNF318	24149	.	GRCh37	6	43309850	43309850	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	67	0	ENST00000361428.2:c.3376G>C	p.Gly1126Arg	p.G1126R	ENST00000361428	NM_014345.2	1126	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS4895.2	3376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTTTTG	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Gly1126Arg,ENST00000361428,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000605935,;	3454	67	72	SUCCESS
MAP3K7	6885	.	GRCh37	6	91281491	91281491	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	75	0	ENST00000369329.3:c.156A>T	p.Lys52Asn	p.K52N	ENST00000369329	NM_145331.2	52	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5028.1	156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCTTTGCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR26392,PROSITE_patterns:PS00107,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF038168,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000358335	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000369329	Transcript	.	.	ENSG00000135341	6859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	M3K7_HUMAN	MAP3K7	HGNC	.	.	UPI000012EAD6	SNV	MAP3K7,missense_variant,p.Lys52Asn,ENST00000369325,;MAP3K7,missense_variant,p.Lys52Asn,ENST00000369329,;MAP3K7,missense_variant,p.Lys52Asn,ENST00000369332,;MAP3K7,missense_variant,p.Lys52Asn,ENST00000369327,;	318	75	87	SUCCESS
PLXNA4	91584	.	GRCh37	7	131895838	131895838	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377154325	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	55	0	ENST00000321063.4:c.2162C>T	p.Thr721Met	p.T721M	ENST00000321063	NM_020911.1	721	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS43646.1	2162	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGTGATA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34	.	.	ENSP00000352882	.	10/32	.	.	.	.	.	.	.	.	rs377154325,COSM1548201,COSM1548200	10/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.977)	.	deleterious(0)	0,1,1	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Thr721Met,ENST00000321063,;PLXNA4,missense_variant,p.Thr721Met,ENST00000359827,;	3125	55	54	SUCCESS
GNA12	2768	.	GRCh37	7	2883632	2883632	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1417455995	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	23	0	ENST00000275364.3:c.164G>T	p.Arg55Leu	p.R55L	ENST00000275364	NM_007353.2	55	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5335.1	164	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCCGGACC	NONE	.	.	SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF130,hmmpanther:PTHR10218,Low_complexity_(Seg):seg	.	.	ENSP00000275364	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000275364	Transcript	.	.	ENSG00000146535	4380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	GNA12_HUMAN	GNA12	HGNC	.	.	UPI000013DA5B	SNV	GNA12,missense_variant,p.Arg55Leu,ENST00000275364,;GNA12,5_prime_UTR_variant,,ENST00000544127,;	327	23	31	SUCCESS
ABCA13	154664	.	GRCh37	7	48626793	48626793	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs563692415	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	57	0	ENST00000435803.1:c.14549C>T	p.Ala4850Val	p.A4850V	ENST00000435803	NM_152701.3	4850	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47584.1	14549	RADIA|MUTECT|MUSE|VARSCANS	.	CCACGCGGACA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	57/62	.	.	.	.	.	.	.	.	rs563692415,COSM371469,COSM371468	57/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.007)	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Ala4850Val,ENST00000435803,;ABCA13,missense_variant,p.Ala580Val,ENST00000544596,;ABCA13,missense_variant,p.Ala623Val,ENST00000411975,;ABCA13,missense_variant,p.Ala1116Val,ENST00000453246,;	14573	57	59	SUCCESS
DAGLB	221955	.	GRCh37	7	6476018	6476018	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763592341	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	22	144	0	ENST00000297056.6:c.394G>A	p.Gly132Ser	p.G132S	ENST00000297056	NM_139179.3	132	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS5350.1	394	RADIA|MUTECT|MUSE|VARSCANS	.	GATGCCGTTTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21493:SF8,hmmpanther:PTHR21493	.	.	ENSP00000297056	.	3/15	.	.	.	.	.	.	.	.	rs763592341	3/15	PASS	ENST00000297056	Transcript	.	.	ENSG00000164535	28923	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.634)	.	tolerated(0.32)	.	DGLB_HUMAN	DAGLB	HGNC	E7ET49_HUMAN,B3KR38_HUMAN	.	UPI000006E01F	SNV	DAGLB,missense_variant,p.Gly132Ser,ENST00000425398,;DAGLB,missense_variant,p.Gly132Ser,ENST00000297056,;DAGLB,missense_variant,p.Gly132Ser,ENST00000432248,;DAGLB,missense_variant,p.Gly91Ser,ENST00000436575,;DAGLB,intron_variant,,ENST00000421761,;DAGLB,intron_variant,,ENST00000428902,;DAGLB,non_coding_transcript_exon_variant,,ENST00000479922,;DAGLB,intron_variant,,ENST00000454738,;	564	144	164	SUCCESS
PCLO	27445	.	GRCh37	7	82544838	82544838	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs199931189	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	11	87	0	ENST00000333891.9:c.12464A>G	p.Tyr4155Cys	p.Y4155C	ENST00000333891	NM_033026.5	4155	tAc/tGc	0	.	C:0	.	C:0	.	C	Y/C	protein_coding	YES	CCDS47630.1	12464	MUTECT|MUSE|VARSCANS	.	GTCTGTAGCTA	NONE	byCluster|by1000G	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	C:0.001	.	ENSP00000334319	C:0	7/25	.	.	.	.	.	.	.	.	rs199931189	7/25	PASS	ENST00000333891	Transcript	.	C:0.0002	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	C:0	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Tyr875Cys,ENST00000437081,;PCLO,missense_variant,p.Tyr4155Cys,ENST00000333891,;PCLO,missense_variant,p.Tyr4155Cys,ENST00000423517,;	12802	87	110	SUCCESS
TAC1	6863	.	GRCh37	7	97363076	97363076	+	synonymous_variant	Silent	SNP	C	C	A	rs763171892	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	21	111	0	ENST00000319273.5:c.165C>A	p.Ile55=	p.I55=	ENST00000319273	NM_003182.2	55	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5649.1	165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCGCCCG	NONE	.	.	hmmpanther:PTHR11250:SF0,hmmpanther:PTHR11250,Prints_domain:PR01829	.	.	ENSP00000321106	.	3/7	.	.	.	.	.	.	.	.	rs763171892	3/7	PASS	ENST00000319273	Transcript	.	.	ENSG00000006128	11517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKN1_HUMAN	TAC1	HGNC	.	.	UPI000002C712	SNV	TAC1,synonymous_variant,p.%3D,ENST00000346867,;TAC1,synonymous_variant,p.%3D,ENST00000319273,;TAC1,synonymous_variant,p.%3D,ENST00000350485,;TAC1,downstream_gene_variant,,ENST00000495916,;TAC1,upstream_gene_variant,,ENST00000491437,;	462	111	129	SUCCESS
ASNS	440	.	GRCh37	7	97482512	97482512	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749209281	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	87	0	ENST00000175506.4:c.1336C>T	p.His446Tyr	p.H446Y	ENST00000175506	NM_183356.3	446	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS5652.1	1336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATGTTTTT	NONE	byFrequency	.	hmmpanther:PTHR11772:SF5,hmmpanther:PTHR11772,Gene3D:3.40.50.620,Pfam_domain:PF00733,PIRSF_domain:PIRSF001589,Superfamily_domains:SSF52402	.	.	ENSP00000175506	.	13/14	.	.	.	.	.	.	.	.	rs749209281	13/14	PASS	ENST00000175506	Transcript	.	.	ENSG00000070669	753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.89)	.	ASNS_HUMAN	ASNS	HGNC	C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN	.	UPI0000169F55	SNV	ASNS,missense_variant,p.His446Tyr,ENST00000394309,;ASNS,missense_variant,p.His363Tyr,ENST00000437628,;ASNS,missense_variant,p.His446Tyr,ENST00000175506,;ASNS,missense_variant,p.His363Tyr,ENST00000455086,;ASNS,missense_variant,p.His425Tyr,ENST00000444334,;ASNS,missense_variant,p.His446Tyr,ENST00000394308,;ASNS,missense_variant,p.His425Tyr,ENST00000422745,;ASNS,3_prime_UTR_variant,,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000487714,;ASNS,downstream_gene_variant,,ENST00000462436,;	1865	87	71	SUCCESS
TRRAP	8295	.	GRCh37	7	98529221	98529221	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	19	139	0	ENST00000359863.4:c.3785A>G	p.His1262Arg	p.H1262R	ENST00000359863	NM_001244580.1	1262	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS59066.1	3785	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCATTCGC	NONE	.	.	hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000352925	.	26/72	.	.	.	.	.	.	.	.	.	26/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.186)	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,missense_variant,p.His1262Arg,ENST00000355540,;TRRAP,missense_variant,p.His1261Arg,ENST00000446306,;TRRAP,missense_variant,p.His977Arg,ENST00000456197,;TRRAP,missense_variant,p.His1262Arg,ENST00000359863,;	3994	139	145	SUCCESS
DLC1	10395	.	GRCh37	8	13356751	13356751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	58	0	ENST00000276297.4:c.830G>A	p.Cys277Tyr	p.C277Y	ENST00000276297	NM_182643.2	277	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS5989.1	830	MUTECT|MUSE|VARSCANS	.	GAAGGCAGCTT	NONE	.	.	.	.	.	ENSP00000276297	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000276297	Transcript	.	.	ENSG00000164741	2897	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	tolerated_low_confidence(0.14)	.	RHG07_HUMAN	DLC1	HGNC	.	.	UPI0000210275	SNV	DLC1,missense_variant,p.Cys277Tyr,ENST00000511869,;DLC1,missense_variant,p.Cys277Tyr,ENST00000276297,;DLC1,missense_variant,p.Cys277Tyr,ENST00000316609,;DLC1,upstream_gene_variant,,ENST00000517868,;DLC1,downstream_gene_variant,,ENST00000517333,;	1240	58	52	SUCCESS
GPR124	0	.	GRCh37	8	37697733	37697733	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1240840102	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	33	0	ENST00000412232.2:c.2606C>A	p.Pro869His	p.P869H	ENST00000412232	NM_032777.9	869	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS6097.2	2606	RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCCCCTC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000406367	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,missense_variant,p.Pro869His,ENST00000412232,;GPR124,missense_variant,p.Pro652His,ENST00000315215,;BRF2,downstream_gene_variant,,ENST00000220659,;BRF2,downstream_gene_variant,,ENST00000520601,;	2619	33	36	SUCCESS
SPIDR	23514	.	GRCh37	8	48647955	48647955	+	synonymous_variant	Silent	SNP	C	C	T	rs749210214	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	23	146	0	ENST00000297423.4:c.2691C>T	p.Cys897=	p.C897=	ENST00000297423	NM_001080394.2	897	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS43737.1	2691	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCATTGG	NONE	.	.	Pfam_domain:PF14951	.	.	ENSP00000297423	.	20/20	.	.	.	.	.	.	.	.	rs749210214	20/20	PASS	ENST00000297423	Transcript	.	.	ENSG00000164808	28971	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPIDR_HUMAN	SPIDR	HGNC	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN	.	UPI0000253B92	SNV	SPIDR,missense_variant,p.His838Tyr,ENST00000518074,;SPIDR,synonymous_variant,p.%3D,ENST00000541342,;SPIDR,synonymous_variant,p.%3D,ENST00000297423,;SPIDR,synonymous_variant,p.%3D,ENST00000517693,;SPIDR,3_prime_UTR_variant,,ENST00000518060,;SPIDR,3_prime_UTR_variant,,ENST00000519401,;CEBPD,downstream_gene_variant,,ENST00000408965,;SPIDR,downstream_gene_variant,,ENST00000517619,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519141,;SPIDR,downstream_gene_variant,,ENST00000588781,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519362,;	3075	146	158	SUCCESS
GDAP1	54332	.	GRCh37	8	75274140	75274140	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779770529	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	88	0	ENST00000220822.7:c.506C>T	p.Ser169Phe	p.S169F	ENST00000220822	NM_001040875.2	169	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS34911.1	506	RADIA|MUTECT|MUSE	.	AGAGTCTGAGC	BUFFER|p.S169S|c.507T>G|3	byFrequency	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF127,hmmpanther:PTHR11260	.	.	ENSP00000220822	.	4/6	.	.	.	.	.	.	.	.	rs779770529	4/6	PASS	ENST00000220822	Transcript	1	.	ENSG00000104381	15968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.726)	.	deleterious(0.01)	.	GDAP1_HUMAN	GDAP1	HGNC	B4DIH2_HUMAN	.	UPI00001AE62B	SNV	GDAP1,missense_variant,p.Ser101Phe,ENST00000434412,;GDAP1,missense_variant,p.Ser169Phe,ENST00000220822,;GDAP1,non_coding_transcript_exon_variant,,ENST00000524366,;GDAP1,non_coding_transcript_exon_variant,,ENST00000521096,;GDAP1,non_coding_transcript_exon_variant,,ENST00000520797,;GDAP1,downstream_gene_variant,,ENST00000523640,;GDAP1,upstream_gene_variant,,ENST00000524195,;GDAP1,3_prime_UTR_variant,,ENST00000522568,;	586	88	96	SUCCESS
MATN2	4147	.	GRCh37	8	98900398	98900398	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	43	0	ENST00000254898.5:c.70A>G	p.Arg24Gly	p.R24G	ENST00000254898	NM_002380.3	24	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS55264.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF17,hmmpanther:PTHR22992	.	.	ENSP00000430487	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000520016	Transcript	.	.	ENSG00000132561	6908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.08)	.	MATN2_HUMAN	MATN2	HGNC	E5RJM4_HUMAN	.	UPI000021037B	SNV	MATN2,missense_variant,p.Arg24Gly,ENST00000521689,;MATN2,missense_variant,p.Arg24Gly,ENST00000520016,;MATN2,missense_variant,p.Arg24Gly,ENST00000254898,;MATN2,missense_variant,p.Arg24Gly,ENST00000524308,;MATN2,intron_variant,,ENST00000522025,;MATN2,non_coding_transcript_exon_variant,,ENST00000523490,;MATN2,non_coding_transcript_exon_variant,,ENST00000520160,;	194	43	35	SUCCESS
GTF3C4	9329	.	GRCh37	9	135545948	135545948	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	52	0	ENST00000372146.4:c.-38G>A		p.*13*	ENST00000372146	NM_012204.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6953.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGTGGAGCG	NONE	.	.	.	.	.	ENSP00000361219	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000372146	Transcript	.	.	ENSG00000125484	4667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TF3C4_HUMAN	GTF3C4	HGNC	B3KNH2_HUMAN	.	UPI000013CBAB	SNV	GTF3C4,5_prime_UTR_variant,,ENST00000372146,;GTF3C4,5_prime_UTR_variant,,ENST00000483873,;DDX31,upstream_gene_variant,,ENST00000372159,;DDX31,upstream_gene_variant,,ENST00000310532,;DDX31,upstream_gene_variant,,ENST00000372153,;DDX31,upstream_gene_variant,,ENST00000544003,;DDX31,upstream_gene_variant,,ENST00000480876,;DDX31,upstream_gene_variant,,ENST00000482620,;	527	52	42	SUCCESS
C9orf96	0	.	GRCh37	9	136245946	136245946	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	101	0	ENST00000371957.3:c.127C>T	p.Leu43=	p.L43=	ENST00000371957	NM_153710.4	43	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35169.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACCTGGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24363:SF3,hmmpanther:PTHR24363,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000361025	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000371957	Transcript	.	.	ENSG00000198870	28669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGK71_HUMAN	C9orf96	HGNC	.	.	UPI00001D763E	SNV	C9orf96,synonymous_variant,p.%3D,ENST00000426926,;C9orf96,synonymous_variant,p.%3D,ENST00000371957,;C9orf96,5_prime_UTR_variant,,ENST00000371955,;SURF4,upstream_gene_variant,,ENST00000545297,;SURF4,upstream_gene_variant,,ENST00000371989,;SURF4,upstream_gene_variant,,ENST00000371991,;SURF4,upstream_gene_variant,,ENST00000485435,;C9orf96,non_coding_transcript_exon_variant,,ENST00000475232,;C9orf96,non_coding_transcript_exon_variant,,ENST00000468046,;SURF4,upstream_gene_variant,,ENST00000467910,;SURF4,upstream_gene_variant,,ENST00000371982,;	234	101	115	SUCCESS
ZNF658	26149	.	GRCh37	9	40774707	40774707	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs780930128	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	25	219	0	ENST00000602553.1:c.568G>C	p.Glu190Gln	p.E190Q	ENST00000602553		190	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS35023.1	568	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCATAAG	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256	.	.	ENSP00000473484	.	5/5	.	.	.	.	.	.	.	.	rs780930128	5/5	PASS	ENST00000602553	Transcript	.	.	ENSG00000196409	25226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.08)	.	tolerated(0.07)	.	ZN658_HUMAN	ZNF658	HGNC	B3KNB1_HUMAN	.	UPI000046D388	SNV	ZNF658,missense_variant,p.Glu188Gln,ENST00000441795,;ZNF658,missense_variant,p.Glu190Gln,ENST00000377626,;ZNF658,missense_variant,p.Glu190Gln,ENST00000602553,;ZNF658,missense_variant,p.Glu190Gln,ENST00000479710,;	863	219	252	SUCCESS
FAM120A	23196	.	GRCh37	9	96312923	96312923	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	36	0	ENST00000277165.6:c.2224C>T	p.Gln742Ter	p.Q742*	ENST00000277165	NM_014612.3	742	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6706.1	2224	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCAGGCG	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14	.	.	ENSP00000277165	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000277165	Transcript	.	.	ENSG00000048828	13247	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F120A_HUMAN	FAM120A	HGNC	.	.	UPI0000211A83	SNV	FAM120A,stop_gained,p.Gln164Ter,ENST00000427765,;FAM120A,stop_gained,p.Gln742Ter,ENST00000340893,;FAM120A,stop_gained,p.Gln770Ter,ENST00000333936,;FAM120A,stop_gained,p.Gln742Ter,ENST00000277165,;	2418	36	34	SUCCESS
GPC3	2719	.	GRCh37	X	133119396	133119396	+	synonymous_variant	Silent	SNP	C	C	G	rs1484069125	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	5	129	0	ENST00000370818.3:c.81G>C	p.Pro27=	p.P27=	ENST00000370818	NM_001164618.1	27	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS55496.1	81	MUTECT|MUSE	.	GGCGGCGGGGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF4	.	.	ENSP00000377836	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000394299	Transcript	.	.	ENSG00000147257	4451	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPC3_HUMAN	GPC3	HGNC	.	.	UPI00015E044A	SNV	GPC3,synonymous_variant,p.%3D,ENST00000394299,;GPC3,synonymous_variant,p.%3D,ENST00000370818,;GPC3,synonymous_variant,p.%3D,ENST00000543339,;AF003529.2,upstream_gene_variant,,ENST00000455649,;	278	129	145	SUCCESS
ZNF185	7739	.	GRCh37	X	152128322	152128322	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	38	116	0	ENST00000370268.4:c.1486G>T	p.Gly496Cys	p.G496C	ENST00000370268		496	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS55529.1	1582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGGTGGC	NONE	.	.	hmmpanther:PTHR15468:SF2,hmmpanther:PTHR15468	.	.	ENSP00000440847	.	18/24	.	.	.	.	.	.	.	.	COSM3559370,COSM3559369	18/24	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.085)	.	tolerated(0.23)	1,1	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,missense_variant,p.Gly134Cys,ENST00000454925,;ZNF185,missense_variant,p.Gly437Cys,ENST00000318504,;ZNF185,missense_variant,p.Gly528Cys,ENST00000370270,;ZNF185,missense_variant,p.Gly264Cys,ENST00000324823,;ZNF185,missense_variant,p.Gly497Cys,ENST00000449285,;ZNF185,missense_variant,p.Gly496Cys,ENST00000370268,;ZNF185,missense_variant,p.Gly275Cys,ENST00000318529,;ZNF185,missense_variant,p.Gly499Cys,ENST00000539731,;ZNF185,missense_variant,p.Gly165Cys,ENST00000447792,;ZNF185,missense_variant,p.Gly528Cys,ENST00000535861,;ZNF185,missense_variant,p.Gly255Cys,ENST00000426821,;ZNF185,missense_variant,p.Gly499Cys,ENST00000436731,;	1630	116	128	SUCCESS
ITIH6	347365	.	GRCh37	X	54783896	54783896	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201125581	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	43	0	ENST00000218436.6:c.2611C>A	p.Leu871Ile	p.L871I	ENST00000218436	NM_198510.2	871	Ctt/Att	0	A:0	.	.	.	.	T	L/I	protein_coding	YES	CCDS14361.1	2611	MUTECT|MUSE	.	GGAAAGTGATA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	A:0.0001	ENSP00000218436	.	8/13	.	.	.	.	.	.	.	.	rs201125581	8/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.14)	.	tolerated(0.06)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Leu871Ile,ENST00000218436,;	2641	43	45	SUCCESS
CYLC1	1538	.	GRCh37	X	83129331	83129331	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	7	210	0	ENST00000329312.4:c.1615A>C	p.Lys539Gln	p.K539Q	ENST00000329312	NM_021118.2	539	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS35341.1	1615	MUTECT|MUSE	.	AAATCAAAGGT	NONE	.	.	hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.949)	.	deleterious(0.01)	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Lys539Gln,ENST00000329312,;	1652	210	230	SUCCESS
CALHM2	51063	.	GRCh37	10	105207130	105207130	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs925694493	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	99	0	ENST00000260743.5:c.751T>C	p.Phe251Leu	p.F251L	ENST00000260743	NM_015916.4	251	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7549.1	751	MUTECT|MUSE	.	GCCAAAGAAGC	NONE	.	.	hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF3,Pfam_domain:PF14798	.	.	ENSP00000260743	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000260743	Transcript	.	.	ENSG00000138172	23493	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.318)	.	tolerated(0.07)	.	CAHM2_HUMAN	CALHM2	HGNC	.	.	UPI0000070F1F	SNV	CALHM2,missense_variant,p.Phe251Leu,ENST00000369788,;CALHM2,missense_variant,p.Phe251Leu,ENST00000260743,;PDCD11,downstream_gene_variant,,ENST00000369797,;CALHM2,downstream_gene_variant,,ENST00000393235,;RP11-225H22.7,upstream_gene_variant,,ENST00000608063,;CALHM2,downstream_gene_variant,,ENST00000474797,;CALHM2,downstream_gene_variant,,ENST00000480642,;CALHM2,downstream_gene_variant,,ENST00000463878,;CALHM2,downstream_gene_variant,,ENST00000461631,;CALHM2,downstream_gene_variant,,ENST00000494180,;PDCD11,downstream_gene_variant,,ENST00000478543,;	1275	99	101	SUCCESS
COL17A1	1308	.	GRCh37	10	105803274	105803274	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	13	204	0	ENST00000353479.5:c.2500C>G	p.Pro834Ala	p.P834A	ENST00000353479	NM_000494.3	834	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS7554.1	2500	MUTECT|MUSE	.	TGGAGGTCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023	.	.	ENSP00000340937	.	35/56	.	.	.	.	.	.	.	.	.	35/56	PASS	ENST00000353479	Transcript	1	.	ENSG00000065618	2194	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.956)	.	.	.	COHA1_HUMAN	COL17A1	HGNC	.	.	UPI000006DB58	SNV	COL17A1,missense_variant,p.Pro834Ala,ENST00000353479,;COL17A1,missense_variant,p.Pro834Ala,ENST00000369733,;MIR936,downstream_gene_variant,,ENST00000401264,;	2791	204	170	SUCCESS
ITGA8	8516	.	GRCh37	10	15634272	15634272	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs9333174	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	28	103	0	ENST00000378076.3:c.2243G>A	p.Arg748His	p.R748H	ENST00000378076	NM_003638.1	748	cGt/cAt	0	T:0.0123	T:0.0121	.	T:0	.	T	R/H	protein_coding	YES	CCDS31155.1	2243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGACGTGGA	NONE	byFrequency|byCluster|byHapMap|by1000G	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179	T:0	T:0	ENSP00000367316	T:0	22/30	.	.	.	.	.	.	.	.	rs9333174,COSM427342	22/30	common_in_exac	ENST00000378076	Transcript	1	T:0.0032	ENSG00000077943	6144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.05)	T:0	tolerated(0.48)	0,1	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,missense_variant,p.Arg748His,ENST00000378076,;ITGA8,downstream_gene_variant,,ENST00000477064,;	2597	103	116	SUCCESS
ZFAND4	93550	.	GRCh37	10	46121665	46121665	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	141	0	ENST00000344646.5:c.1606A>G	p.Lys536Glu	p.K536E	ENST00000344646	NM_174890.2	536	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS7214.1	1606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTCCCAA	NONE	.	.	hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666	.	.	ENSP00000339484	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000344646	Transcript	.	.	ENSG00000172671	23504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ZFAN4_HUMAN	ZFAND4	HGNC	Q5VVY6_HUMAN,J3KPC0_HUMAN	.	UPI0000161363	SNV	ZFAND4,missense_variant,p.Lys536Glu,ENST00000344646,;ZFAND4,missense_variant,p.Lys462Glu,ENST00000374366,;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;	1822	141	127	SUCCESS
MYPN	84665	.	GRCh37	10	69926386	69926386	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772535532	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	16	149	0	ENST00000358913.5:c.1936G>A	p.Val646Met	p.V646M	ENST00000358913	NM_032578.3	646	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS7275.1	1936	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGTGAAA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897	.	.	ENSP00000351790	.	10/20	.	.	.	.	.	.	.	.	rs772535532	10/20	PASS	ENST00000358913	Transcript	1	.	ENSG00000138347	23246	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.297)	.	tolerated(0.15)	.	MYPN_HUMAN	MYPN	HGNC	A5PKT7_HUMAN	.	UPI00002288CF	SNV	MYPN,missense_variant,p.Val646Met,ENST00000358913,;MYPN,missense_variant,p.Val646Met,ENST00000540630,;MYPN,missense_variant,p.Val371Met,ENST00000354393,;MYPN,downstream_gene_variant,,ENST00000373675,;	2424	149	136	SUCCESS
CDH23	64072	.	GRCh37	10	73537540	73537540	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	92	0	ENST00000224721.6:c.4964T>G	p.Leu1655Arg	p.L1655R	ENST00000224721	NM_022124.5	1655	cTc/cGc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31218.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCTCAACA	NONE	.	4285	.	.	.	ENSP00000378409	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394957	Transcript	.	.	ENSG00000107738	30085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GI24_HUMAN	C10orf54	HGNC	.	.	UPI000004781D	SNV	CDH23,missense_variant,p.Leu1655Arg,ENST00000224721,;C10orf54,upstream_gene_variant,,ENST00000394957,;	.	92	85	SUCCESS
TBC1D12	23232	.	GRCh37	10	96162517	96162534	+	inframe_deletion	In_Frame_Del	DEL	GGAGGAGGCTGACGAGGA	GGAGGAGGCTGACGAGGA	-	rs760244892	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	GGAGGAGGCTGACGAGGA	GGAGGAGGCTGACGAGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	90	0	ENST00000225235.4:c.172_189del	p.Ala58_Glu63del	p.A58_E63del	ENST00000225235	NM_015188.1	49	ccGGAGGAGGCTGACGAGGAg/ccg	0	-:0.001	.	.	.	.	-	PEEADEE/P	protein_coding	YES	CCDS41553.1	147-164	INDELOCATOR|VARSCANI	.	GCCGCCGGAGGAGGCTGACGAGGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg	.	-:0.0032	ENSP00000225235	.	1/13	.	.	.	.	.	.	.	.	rs760244892	1/13	common_in_exac	ENST00000225235	Transcript	.	.	ENSG00000108239	29082	25	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBC12_HUMAN	TBC1D12	HGNC	B9A6L3_HUMAN	.	UPI00001C1ED6	deletion	TBC1D12,inframe_deletion,p.Ala58_Glu63del,ENST00000225235,;	257-274	90	74	SUCCESS
CRTAC1	55118	.	GRCh37	10	99696049	99696049	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375692428	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	76	0	ENST00000370597.3:c.299G>A	p.Arg100His	p.R100H	ENST00000370597	NM_018058.6	100	cGc/cAc	0	T:0	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS31266.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCGCTCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16026,hmmpanther:PTHR16026:SF4,Pfam_domain:PF13517,Superfamily_domains:SSF69318	T:0	T:0.0001	ENSP00000359629	T:0	3/15	.	.	.	.	.	.	.	.	rs375692428	3/15	PASS	ENST00000370597	Transcript	.	T:0.0004	ENSG00000095713	14882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	T:0.002	tolerated(0.21)	.	CRAC1_HUMAN	CRTAC1	HGNC	.	.	UPI000006D454	SNV	CRTAC1,missense_variant,p.Arg100His,ENST00000298819,;CRTAC1,missense_variant,p.Arg100His,ENST00000370597,;CRTAC1,missense_variant,p.Arg100His,ENST00000370591,;CRTAC1,missense_variant,p.Arg92His,ENST00000309155,;CRTAC1,upstream_gene_variant,,ENST00000413387,;	655	76	69	SUCCESS
ELMOD1	55531	.	GRCh37	11	107463167	107463167	+	intron_variant	Intron	SNP	G	G	C	rs765872296	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	68	0	ENST00000265840.7:c.-86+1032G>C		p.*29*	ENST00000265840	NM_018712.3	122		0	.	.	.	.	.	C	R/P	protein_coding	YES	.	365	RADIA|MUTECT|MUSE	.	TATACGTTTTG	NONE	.	.	.	.	.	ENSP00000472830	.	2/3	.	.	.	.	.	.	.	.	rs765872296	2/3	PASS	ENST00000600612	Transcript	.	.	ENSG00000268467	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.933)	.	deleterious_low_confidence(0)	.	.	AP000889.3	Clone_based_ensembl_gene	Q96LP0_HUMAN	.	UPI000006D120	SNV	AP000889.3,missense_variant,p.Arg122Pro,ENST00000600612,;ELMOD1,intron_variant,,ENST00000443271,;ELMOD1,intron_variant,,ENST00000531234,;ELMOD1,intron_variant,,ENST00000265840,;ELMOD1,non_coding_transcript_exon_variant,,ENST00000529675,;ELMOD1,intron_variant,,ENST00000524378,;ELMOD1,intron_variant,,ENST00000527036,;	378	68	60	SUCCESS
GRIK4	2900	.	GRCh37	11	120831716	120831716	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	98	0	ENST00000438375.2:c.1973A>T	p.Asp658Val	p.D658V	ENST00000438375	NM_014619.2	658	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS8433.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGACCTGG	NONE	.	.	hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000435648	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000527524	Transcript	.	.	ENSG00000149403	4582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,missense_variant,p.Asp658Val,ENST00000438375,;GRIK4,missense_variant,p.Asp658Val,ENST00000527524,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	2260	99	91	SUCCESS
AHNAK	79026	.	GRCh37	11	62290619	62290619	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs551324364	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	79	0	ENST00000378024.4:c.11270C>T	p.Pro3757Leu	p.P3757L	ENST00000378024	NM_001620.2	3757	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31584.1	11270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGGGCCC	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	rs551324364	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Pro3757Leu,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	11545	79	81	SUCCESS
STIP1	10963	.	GRCh37	11	63965043	63965043	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	75	0	ENST00000305218.4:c.878G>A	p.Arg293Gln	p.R293Q	ENST00000305218	NM_006819.2	293	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS8058.1	878	RADIA|MUTECT|MUSE|VARSCANS	.	AAACCGAGAAG	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF296,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000305958	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000305218	Transcript	.	.	ENSG00000168439	11387	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	.	deleterious(0.04)	.	STIP1_HUMAN	STIP1	HGNC	.	.	UPI000012D225	SNV	STIP1,missense_variant,p.Arg269Gln,ENST00000538945,;STIP1,missense_variant,p.Arg293Gln,ENST00000305218,;STIP1,missense_variant,p.Arg340Gln,ENST00000358794,;STIP1,upstream_gene_variant,,ENST00000540887,;STIP1,downstream_gene_variant,,ENST00000543847,;STIP1,non_coding_transcript_exon_variant,,ENST00000544739,;STIP1,non_coding_transcript_exon_variant,,ENST00000537479,;STIP1,downstream_gene_variant,,ENST00000540501,;STIP1,non_coding_transcript_exon_variant,,ENST00000538497,;STIP1,intron_variant,,ENST00000536973,;STIP1,upstream_gene_variant,,ENST00000355603,;STIP1,downstream_gene_variant,,ENST00000540736,;	1025	75	102	SUCCESS
SYVN1	84447	.	GRCh37	11	64898776	64898776	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	38	114	0	ENST00000377190.3:c.727T>C	p.Phe243Leu	p.F243L	ENST00000377190	NM_172230.2	243	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS31605.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAAGAGTG	NONE	.	.	hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF69	.	.	ENSP00000366395	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000377190	Transcript	.	.	ENSG00000162298	20738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0)	.	SYVN1_HUMAN	SYVN1	HGNC	E9PMA1_HUMAN	.	UPI000004EE90	SNV	SYVN1,missense_variant,p.Phe192Leu,ENST00000307289,;SYVN1,missense_variant,p.Phe183Leu,ENST00000531018,;SYVN1,missense_variant,p.Phe243Leu,ENST00000294256,;SYVN1,missense_variant,p.Phe228Leu,ENST00000528487,;SYVN1,missense_variant,p.Phe243Leu,ENST00000526060,;SYVN1,missense_variant,p.Phe243Leu,ENST00000377190,;MRPL49,downstream_gene_variant,,ENST00000279242,;MRPL49,downstream_gene_variant,,ENST00000531705,;SYVN1,non_coding_transcript_exon_variant,,ENST00000526121,;MRPL49,downstream_gene_variant,,ENST00000524482,;SYVN1,upstream_gene_variant,,ENST00000527765,;SYVN1,3_prime_UTR_variant,,ENST00000527142,;SYVN1,3_prime_UTR_variant,,ENST00000532771,;SYVN1,non_coding_transcript_exon_variant,,ENST00000529207,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,downstream_gene_variant,,ENST00000533685,;SYVN1,downstream_gene_variant,,ENST00000525874,;MRPL49,downstream_gene_variant,,ENST00000526319,;MRPL49,downstream_gene_variant,,ENST00000532671,;SYVN1,upstream_gene_variant,,ENST00000530451,;	822	114	119	SUCCESS
PRCP	5547	.	GRCh37	11	82536165	82536165	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	67	0	ENST00000313010.3:c.1275-1G>A		p.X425_splice	ENST00000313010	NM_005040.2	425		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41695.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCTGCAA	NONE	.	.	.	.	.	ENSP00000377055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393399	Transcript	.	.	ENSG00000137509	9344	.	.	HIGH	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCP_HUMAN	PRCP	HGNC	E9PR42_HUMAN,E9PQN3_HUMAN,E9PQB5_HUMAN,E9PLY4_HUMAN,E9PL85_HUMAN,E9PL49_HUMAN,E9PKN6_HUMAN,E9PIG4_HUMAN,B7Z7Q6_HUMAN,B3KR26_HUMAN	.	UPI00001FB052	SNV	PRCP,splice_acceptor_variant,,ENST00000313010,;PRCP,splice_acceptor_variant,,ENST00000535099,;PRCP,splice_acceptor_variant,,ENST00000393399,;PRCP,splice_acceptor_variant,,ENST00000525772,;PRCP,splice_acceptor_variant,,ENST00000532709,;	.	67	56	SUCCESS
C11orf73	0	.	GRCh37	11	86017465	86017465	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1223754309	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	65	0	ENST00000278483.3:c.209T>G	p.Leu70Arg	p.L70R	ENST00000278483	NM_016401.3	70	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8275.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTAGGAT	NONE	.	.	hmmpanther:PTHR12925:SF0,hmmpanther:PTHR12925,Pfam_domain:PF05603	.	.	ENSP00000278483	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000278483	Transcript	.	.	ENSG00000149196	26938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HIKES_HUMAN	C11orf73	HGNC	.	.	UPI000006CF46	SNV	C11orf73,missense_variant,p.Leu70Arg,ENST00000278483,;C11orf73,missense_variant,p.Leu70Arg,ENST00000533986,;C11orf73,non_coding_transcript_exon_variant,,ENST00000530208,;C11orf73,non_coding_transcript_exon_variant,,ENST00000532270,;C11orf73,intron_variant,,ENST00000531485,;C11orf73,missense_variant,p.Leu70Arg,ENST00000528004,;	435	65	69	SUCCESS
ACAD10	80724	.	GRCh37	12	112147442	112147443	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AACAAATCTAA	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	95	13	83	0	ENST00000313698.4:c.647_657dup	p.Glu220GlnfsTer3	p.E220Qfs*3	ENST00000313698	NM_025247.5	215	gga/ggAACAAATCTAAa	0	.	.	.	.	.	AACAAATCTAA	G/GTNLX	protein_coding	YES	CCDS44973.1	644-645	INDELOCATOR|VARSCANI	.	CCTTGGAACAA	NONE	.	.	Pfam_domain:PF13419,TIGRFAM_domain:TIGR01509,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR02247,Superfamily_domains:SSF56784	.	.	ENSP00000389813	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000455480	Transcript	.	.	ENSG00000111271	21597	13	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACD10_HUMAN	ACAD10	HGNC	F8VXK4_HUMAN,D6RFF6_HUMAN	.	UPI000013F5E7	insertion	ACAD10,frameshift_variant,p.Glu220GlnfsTer3,ENST00000549590,;ACAD10,frameshift_variant,p.Glu220GlnfsTer3,ENST00000313698,;ACAD10,frameshift_variant,p.Glu220GlnfsTer3,ENST00000455480,;ACAD10,5_prime_UTR_variant,,ENST00000392636,;ACAD10,intron_variant,,ENST00000515283,;ACAD10,upstream_gene_variant,,ENST00000507683,;ACAD10,upstream_gene_variant,,ENST00000552706,;ACAD10,non_coding_transcript_exon_variant,,ENST00000413681,;ACAD10,non_coding_transcript_exon_variant,,ENST00000502746,;ACAD10,non_coding_transcript_exon_variant,,ENST00000509936,;ACAD10,non_coding_transcript_exon_variant,,ENST00000507135,;ACAD10,upstream_gene_variant,,ENST00000514847,;	821-822	83	108	SUCCESS
NOS1	4842	.	GRCh37	12	117723914	117723914	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	72	0	ENST00000317775.6:c.1285C>G	p.Leu429Val	p.L429V	ENST00000317775	NM_000620.4	429	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS55890.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCTTGG	NONE	.	.	Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Gene3D:3.90.340.10,Pfam_domain:PF02898,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.42)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Leu429Val,ENST00000317775,;NOS1,missense_variant,p.Leu429Val,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	1290	72	74	SUCCESS
ITPR2	3709	.	GRCh37	12	26731667	26731667	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1475584874	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	105	0	ENST00000381340.3:c.4609A>G	p.Ile1537Val	p.I1537V	ENST00000381340	NM_002223.2	1537	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS41764.1	4609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATACAGG	NONE	.	.	hmmpanther:PTHR13715,Superfamily_domains:SSF48371	.	.	ENSP00000370744	.	34/57	.	.	.	.	.	.	.	.	.	34/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.09)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Ile1537Val,ENST00000381340,;	5026	105	105	SUCCESS
ARID2	196528	.	GRCh37	12	46246408	46246408	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	56	154	0	ENST00000334344.6:c.4502C>T	p.Ser1501Phe	p.S1501F	ENST00000334344	NM_152641.2	1501	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS31783.1	4502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATCTGACG	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious_low_confidence(0.01)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Ser1501Phe,ENST00000334344,;ARID2,missense_variant,p.Ser1111Phe,ENST00000444670,;ARID2,missense_variant,p.Ser1352Phe,ENST00000422737,;ARID2,missense_variant,p.Ser109Phe,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	4674	154	175	SUCCESS
WNT10B	7480	.	GRCh37	12	49364298	49364298	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	111	363	0	ENST00000301061.4:c.15C>T	p.Pro5=	p.P5=	ENST00000301061	NM_003394.3	5	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8775.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGGGGCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12027:SF76,hmmpanther:PTHR12027	.	.	ENSP00000301061	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000301061	Transcript	.	.	ENSG00000169884	12775	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WN10B_HUMAN	WNT10B	HGNC	C9JCI2_HUMAN	.	UPI0000138F21	SNV	WNT10B,synonymous_variant,p.%3D,ENST00000420388,;WNT10B,synonymous_variant,p.%3D,ENST00000413630,;WNT10B,synonymous_variant,p.%3D,ENST00000403957,;WNT10B,synonymous_variant,p.%3D,ENST00000301061,;WNT10B,synonymous_variant,p.%3D,ENST00000407467,;WNT10B,non_coding_transcript_exon_variant,,ENST00000475740,;	364	363	361	SUCCESS
PIP4K2C	79837	.	GRCh37	12	57995105	57995105	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	121	0	ENST00000354947.5:c.1159C>A	p.His387Asn	p.H387N	ENST00000354947		387	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS8946.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCATGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104	.	.	ENSP00000347032	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000354947	Transcript	.	.	ENSG00000166908	23786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0.03)	.	PI42C_HUMAN	PIP4K2C	HGNC	F8VU68_HUMAN	.	UPI000003F553	SNV	PIP4K2C,missense_variant,p.His387Asn,ENST00000354947,;PIP4K2C,missense_variant,p.His339Asn,ENST00000422156,;PIP4K2C,missense_variant,p.His369Asn,ENST00000550465,;PIP4K2C,missense_variant,p.His387Asn,ENST00000540759,;DTX3,upstream_gene_variant,,ENST00000337737,;DTX3,upstream_gene_variant,,ENST00000548478,;DTX3,upstream_gene_variant,,ENST00000550596,;DTX3,upstream_gene_variant,,ENST00000551835,;PIP4K2C,downstream_gene_variant,,ENST00000551772,;PIP4K2C,downstream_gene_variant,,ENST00000548264,;DTX3,upstream_gene_variant,,ENST00000551632,;DTX3,upstream_gene_variant,,ENST00000548804,;DTX3,upstream_gene_variant,,ENST00000548198,;DTX3,upstream_gene_variant,,ENST00000549583,;PIP4K2C,downstream_gene_variant,,ENST00000550360,;PIP4K2C,downstream_gene_variant,,ENST00000550095,;	1175	121	107	SUCCESS
IFNG	3458	.	GRCh37	12	68551852	68551852	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	76	0	ENST00000229135.3:c.207G>A	p.Gln69=	p.Q69=	ENST00000229135	NM_000619.2	69	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8980.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCTGCAT	NONE	.	.	hmmpanther:PTHR11419,Pfam_domain:PF00714,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001936,Superfamily_domains:SSF47266	.	.	ENSP00000229135	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000229135	Transcript	.	.	ENSG00000111537	5438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNG_HUMAN	IFNG	HGNC	A1Z2M2_HUMAN	.	UPI000002C7C8	SNV	IFNG,synonymous_variant,p.%3D,ENST00000229135,;IFNG-AS1,intron_variant,,ENST00000536914,;	339	76	76	SUCCESS
UPF3A	65110	.	GRCh37	13	115048417	115048417	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	61	0	ENST00000375299.3:c.420A>G		p.X140_splice	ENST00000375299	NM_023011.3	140	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS9543.1	420	MUTECT|MUSE	.	AGCAAAGGTTG	NONE	.	.	Superfamily_domains:SSF54928,Gene3D:3.30.70.330,Pfam_domain:PF03467,hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF2	.	.	ENSP00000364448	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000375299	Transcript	.	.	ENSG00000169062	20332	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REN3A_HUMAN	UPF3A	HGNC	B3KUE7_HUMAN	.	UPI0000072FCB	SNV	UPF3A,synonymous_variant,p.%3D,ENST00000351487,;UPF3A,synonymous_variant,p.%3D,ENST00000375299,;UPF3A,splice_region_variant,,ENST00000493727,;UPF3A,splice_region_variant,,ENST00000484246,;UPF3A,splice_region_variant,,ENST00000480362,;UPF3A,splice_region_variant,,ENST00000474056,;UPF3A,downstream_gene_variant,,ENST00000492270,;UPF3A,upstream_gene_variant,,ENST00000475218,;UPF3A,upstream_gene_variant,,ENST00000481131,;UPF3A,upstream_gene_variant,,ENST00000479712,;	476	61	45	SUCCESS
GPR183	1880	.	GRCh37	13	99947896	99947896	+	synonymous_variant	Silent	SNP	G	G	A	rs763839031	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	23	91	0	ENST00000376414.4:c.504C>T	p.Ile168=	p.I168=	ENST00000376414	NM_004951.4	168	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9492.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTGATGAG	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24237:SF7,hmmpanther:PTHR24237,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000365596	.	2/2	.	.	.	.	.	.	.	.	rs763839031	2/2	PASS	ENST00000376414	Transcript	.	.	ENSG00000169508	3128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP183_HUMAN	GPR183	HGNC	.	.	UPI0000001068	SNV	GPR183,synonymous_variant,p.%3D,ENST00000376414,;UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000473091,;UBAC2,intron_variant,,ENST00000468067,;	588	91	111	SUCCESS
OR10G2	26534	.	GRCh37	14	22102622	22102622	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	71	283	0	ENST00000542433.1:c.377A>C	p.Asp126Ala	p.D126A	ENST00000542433	NM_001005466.1	126	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS32047.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTCATAG	BUFFER|p.L129L|c.387A>G|4	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000445383	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000542433	Transcript	.	.	ENSG00000255582	8170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O10G2_HUMAN	OR10G2	HGNC	.	.	UPI0000041E5C	SNV	OR10G2,missense_variant,p.Asp126Ala,ENST00000542433,;	475	283	244	SUCCESS
SPATA7	55812	.	GRCh37	14	88892812	88892812	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	33	136	0	ENST00000393545.4:c.609C>G	p.Pro203=	p.P203=	ENST00000393545	NM_018418.4	203	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9883.1	609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCAGAAG	NONE	.	.	Pfam_domain:PF15244,hmmpanther:PTHR14917	.	.	ENSP00000377176	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000393545	Transcript	.	.	ENSG00000042317	20423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAT7_HUMAN	SPATA7	HGNC	.	.	UPI00000712C7	SNV	SPATA7,synonymous_variant,p.%3D,ENST00000356583,;SPATA7,synonymous_variant,p.%3D,ENST00000045347,;SPATA7,synonymous_variant,p.%3D,ENST00000393545,;SPATA7,synonymous_variant,p.%3D,ENST00000553885,;SPATA7,synonymous_variant,p.%3D,ENST00000556553,;SPATA7,downstream_gene_variant,,ENST00000555401,;SPATA7,upstream_gene_variant,,ENST00000556406,;SPATA7,3_prime_UTR_variant,,ENST00000553908,;SPATA7,3_prime_UTR_variant,,ENST00000557248,;SPATA7,3_prime_UTR_variant,,ENST00000556870,;SPATA7,3_prime_UTR_variant,,ENST00000555515,;SPATA7,3_prime_UTR_variant,,ENST00000555534,;SPATA7,non_coding_transcript_exon_variant,,ENST00000556666,;SPATA7,non_coding_transcript_exon_variant,,ENST00000553626,;	898	136	125	SUCCESS
ADAMTS17	170691	.	GRCh37	15	100514721	100514721	+	synonymous_variant	Silent	SNP	G	G	A	rs1596124797	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	86	0	ENST00000268070.4:c.3174C>T	p.Cys1058=	p.C1058=	ENST00000268070	NM_139057.2	1058	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS10383.1	3174	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCCGGCAATA	NONE	.	.	Pfam_domain:PF08686,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF31,PROSITE_profiles:PS50900	.	.	ENSP00000268070	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000268070	Transcript	1	.	ENSG00000140470	17109	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATS17_HUMAN	ADAMTS17	HGNC	.	.	UPI00001AE929	SNV	ADAMTS17,synonymous_variant,p.%3D,ENST00000268070,;CTD-3076O17.1,downstream_gene_variant,,ENST00000528696,;CTD-3076O17.2,upstream_gene_variant,,ENST00000559400,;ADAMTS17,non_coding_transcript_exon_variant,,ENST00000557896,;	3280	86	74	SUCCESS
UBE2Q2	92912	.	GRCh37	15	76136004	76136004	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	100	0	ENST00000267938.4:c.-4G>A		p.*2*	ENST00000267938	NM_173469.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10286.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGAAGAT	NONE	.	.	.	.	.	ENSP00000267938	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000267938	Transcript	.	.	ENSG00000140367	19248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2Q2_HUMAN	UBE2Q2	HGNC	B4DFQ2_HUMAN	.	UPI0000073AF9	SNV	UBE2Q2,5_prime_UTR_variant,,ENST00000267938,;UBE2Q2,5_prime_UTR_variant,,ENST00000338677,;UBE2Q2,5_prime_UTR_variant,,ENST00000569423,;UBE2Q2,upstream_gene_variant,,ENST00000561851,;UBE2Q2,upstream_gene_variant,,ENST00000562635,;UBE2Q2,5_prime_UTR_variant,,ENST00000561723,;	379	100	80	SUCCESS
KIAA1024	0	.	GRCh37	15	79755561	79755561	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	44	157	0	ENST00000305428.3:c.2451G>A	p.Leu817=	p.L817=	ENST00000305428	NM_015206.2	817	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32306.1	2451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTGACCGA	NONE	.	.	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2,Pfam_domain:PF06789	.	.	ENSP00000307461	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,synonymous_variant,p.%3D,ENST00000305428,;KIAA1024,synonymous_variant,p.%3D,ENST00000559272,;	2526	157	156	SUCCESS
BLM	641	.	GRCh37	15	91358483	91358483	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	85	0	ENST00000355112.3:c.4228C>A	p.Leu1410Ile	p.L1410I	ENST00000355112	NM_000057.2	1410	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS10363.1	4228	RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTCTTAAG	NONE	.	.	.	.	.	ENSP00000347232	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000355112	Transcript	1	.	ENSG00000197299	1058	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	BLM_HUMAN	BLM	HGNC	.	.	UPI00001269FA	SNV	BLM,missense_variant,p.Leu1279Ile,ENST00000560509,;BLM,missense_variant,p.Leu1410Ile,ENST00000355112,;BLM,non_coding_transcript_exon_variant,,ENST00000560821,;BLM,downstream_gene_variant,,ENST00000560136,;BLM,3_prime_UTR_variant,,ENST00000559724,;BLM,non_coding_transcript_exon_variant,,ENST00000558825,;	4346	85	83	SUCCESS
TPSD1	23430	.	GRCh37	16	1306936	1306936	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	40	238	0	ENST00000211076.3:c.393G>T	p.Leu131=	p.L131=	ENST00000211076	NM_012217.2	131	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10432.1	393	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGCTGGA	BUFFER|p.D128D|c.384C>T|5	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF96,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000211076	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000211076	Transcript	.	.	ENSG00000095917	14118	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRYD_HUMAN	TPSD1	HGNC	.	.	UPI000007066B	SNV	TPSD1,synonymous_variant,p.%3D,ENST00000211076,;TPSD1,synonymous_variant,p.%3D,ENST00000397534,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;RP11-616M22.5,upstream_gene_variant,,ENST00000566997,;	541	238	236	SUCCESS
PRKCB	5579	.	GRCh37	16	24202547	24202547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	103	0	ENST00000321728.7:c.1859A>T	p.Lys620Ile	p.K620I	ENST00000321728	NM_212535.2	620	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS10619.1	1859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAAAGCTG	NONE	.	.	PROSITE_profiles:PS51285,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00133,PIRSF_domain:PIRSF000550,Superfamily_domains:SSF56112	.	.	ENSP00000305355	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000303531	Transcript	.	.	ENSG00000166501	9395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0)	.	KPCB_HUMAN	PRKCB	HGNC	I3L1Z0_HUMAN	.	UPI000002ACF9	SNV	PRKCB,missense_variant,p.Lys59Ile,ENST00000466124,;PRKCB,missense_variant,p.Lys620Ile,ENST00000303531,;PRKCB,missense_variant,p.Lys620Ile,ENST00000321728,;	2011	103	94	SUCCESS
SLX1A	548593	.	GRCh37	16	30206055	30206055	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs751586325	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	18	144	0	ENST00000251303.6:c.189-6C>T		p.X63_splice	ENST00000251303	NM_001014999.2	63		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32431.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCTCAG	NONE	byFrequency	.	.	.	.	ENSP00000251303	.	.	.	.	.	.	.	.	.	.	rs751586325	.	PASS	ENST00000251303	Transcript	.	.	ENSG00000132207	20922	.	.	LOW	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SLX1_HUMAN	SLX1A	HGNC	H3BRR6_HUMAN	.	UPI0000073C16	SNV	SLX1A,splice_region_variant,,ENST00000251303,;SLX1A,splice_region_variant,,ENST00000345535,;SULT1A3,5_prime_UTR_variant,,ENST00000355544,;SULT1A3,5_prime_UTR_variant,,ENST00000354723,;BOLA2B,upstream_gene_variant,,ENST00000569282,;BOLA2B,upstream_gene_variant,,ENST00000305321,;BOLA2B,upstream_gene_variant,,ENST00000567436,;SULT1A3,upstream_gene_variant,,ENST00000338971,;SULT1A3,upstream_gene_variant,,ENST00000395137,;SLX1A-SULT1A3,non_coding_transcript_exon_variant,,ENST00000565342,;SLX1A,splice_region_variant,,ENST00000563995,;SLX1A-SULT1A3,splice_region_variant,,ENST00000569959,;SLX1A-SULT1A3,non_coding_transcript_exon_variant,,ENST00000568997,;SLX1A-SULT1A3,non_coding_transcript_exon_variant,,ENST00000567520,;SLX1A,non_coding_transcript_exon_variant,,ENST00000565081,;SLX1A-SULT1A3,non_coding_transcript_exon_variant,,ENST00000561824,;BOLA2B,upstream_gene_variant,,ENST00000565525,;SLX1A-SULT1A3,upstream_gene_variant,,ENST00000566712,;SLX1A,upstream_gene_variant,,ENST00000564268,;SULT1A3,upstream_gene_variant,,ENST00000567309,;SLX1A,upstream_gene_variant,,ENST00000563616,;	.	144	139	SUCCESS
ITGAD	3681	.	GRCh37	16	31409166	31409166	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776882400	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	37	0	ENST00000389202.2:c.363G>C	p.Lys121Asn	p.K121N	ENST00000389202	NM_005353.2	121	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS32438.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGGGTTC	NONE	byFrequency	.	Superfamily_domains:SSF69318,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS51470	.	.	ENSP00000373854	.	5/30	.	.	.	.	.	.	.	.	rs776882400	5/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.88)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Lys121Asn,ENST00000389202,;RP11-120K18.2,upstream_gene_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	412	37	31	SUCCESS
CTRL	1506	.	GRCh37	16	67963973	67963973	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142873279	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	99	0	ENST00000574481.1:c.659G>A	p.Cys220Tyr	p.C220Y	ENST00000574481	NM_001907.2	220	tGc/tAc	0	A:0.0016	A:0.003	.	A:0	.	T	C/Y	protein_coding	YES	CCDS10852.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCAGACA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24266:SF5,hmmpanther:PTHR24266,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	A:0	A:0	ENSP00000458537	A:0	7/7	.	.	.	.	.	.	.	.	rs142873279	7/7	PASS	ENST00000574481	Transcript	.	A:0.0008	ENSG00000141086	2524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	A:0	tolerated(0.12)	.	CTRL_HUMAN	CTRL	HGNC	Q8IUW0_HUMAN	.	UPI0000128670	SNV	CTRL,missense_variant,p.Cys179Tyr,ENST00000571605,;CTRL,missense_variant,p.Cys220Tyr,ENST00000574481,;CTRL,missense_variant,p.Ala152Thr,ENST00000571044,;PSMB10,downstream_gene_variant,,ENST00000358514,;PSKH1,downstream_gene_variant,,ENST00000291041,;PSMB10,downstream_gene_variant,,ENST00000574576,;CTRL,upstream_gene_variant,,ENST00000573845,;CTRL,downstream_gene_variant,,ENST00000576408,;CTC-479C5.12,non_coding_transcript_exon_variant,,ENST00000575231,;CTRL,non_coding_transcript_exon_variant,,ENST00000572144,;CTRL,non_coding_transcript_exon_variant,,ENST00000576915,;CTRL,downstream_gene_variant,,ENST00000575302,;PSMB10,downstream_gene_variant,,ENST00000570985,;CTC-479C5.12,downstream_gene_variant,,ENST00000573493,;	1221	99	105	SUCCESS
ZNF469	84627	.	GRCh37	16	88498840	88498841	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	41	0	ENST00000437464.1:c.4884dup	p.Thr1629AspfsTer68	p.T1629Dfs*68	ENST00000437464	NM_001127464.1	1626	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS45544.1	4878-4879	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCCTGGGGG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	insertion	ZNF469,frameshift_variant,p.Thr1657AspfsTer68,ENST00000565624,;ZNF469,frameshift_variant,p.Thr1629AspfsTer68,ENST00000437464,;	4878-4879	41	65	SUCCESS
USP22	23326	.	GRCh37	17	20910258	20910258	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	27	157	0	ENST00000261497.4:c.1273T>G	p.Tyr425Asp	p.Y425D	ENST00000261497	NM_015276.1	425	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS42285.1	1273	RADIA|MUTECT|MUSE|VARSCANS	.	CACATACGTGG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000261497	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.125)	.	deleterious(0.01)	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,missense_variant,p.Tyr425Asp,ENST00000261497,;USP22,missense_variant,p.Tyr413Asp,ENST00000537526,;USP22,downstream_gene_variant,,ENST00000582335,;RP11-344E13.3,downstream_gene_variant,,ENST00000583481,;RP11-344E13.3,downstream_gene_variant,,ENST00000581958,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000478443,;USP22,upstream_gene_variant,,ENST00000463692,;	1477	157	203	SUCCESS
MYO18A	399687	.	GRCh37	17	27442455	27442455	+	synonymous_variant	Silent	SNP	C	C	T	rs368144764	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	62	0	ENST00000527372.1:c.2232G>A	p.Pro744=	p.P744=	ENST00000527372	NM_078471.3	744	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS45642.1	2232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCGGGCC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,PROSITE_profiles:PS51456	.	T:0.0001	ENSP00000437073	.	13/42	.	.	.	.	.	.	.	.	rs368144764	13/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,synonymous_variant,p.%3D,ENST00000354329,;MYO18A,synonymous_variant,p.%3D,ENST00000527372,;MYO18A,synonymous_variant,p.%3D,ENST00000533112,;MYO18A,synonymous_variant,p.%3D,ENST00000531253,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,3_prime_UTR_variant,,ENST00000588791,;MYO18A,upstream_gene_variant,,ENST00000533399,;	2413	62	62	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39274487	39274487	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	69	0	ENST00000391413.2:c.81C>A	p.Pro27=	p.P27=	ENST00000391413	NM_033059.3	27	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45675.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGGGGCG	BUFFER|p.R26H|c.77G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,synonymous_variant,p.%3D,ENST00000391413,;KRTAP4-12,downstream_gene_variant,,ENST00000394014,;	120	69	63	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39274488	39274488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	68	0	ENST00000391413.2:c.80C>A	p.Pro27His	p.P27H	ENST00000391413	NM_033059.3	27	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS45675.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGGCGG	BUFFER|p.R26H|c.77G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,missense_variant,p.Pro27His,ENST00000391413,;KRTAP4-12,downstream_gene_variant,,ENST00000394014,;	119	68	64	SUCCESS
RUNDC3A	10900	.	GRCh37	17	42389993	42389993	+	synonymous_variant	Silent	SNP	C	C	T	rs775621685	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	46	0	ENST00000426726.3:c.153C>T	p.Ile51=	p.I51=	ENST00000426726	NM_001144825.1	51	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS45698.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCGATGA	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF38,Superfamily_domains:0052343	.	.	ENSP00000410862	.	2/11	.	.	.	.	.	.	.	.	rs775621685,COSM1383643,COSM1383644	2/11	PASS	ENST00000426726	Transcript	.	.	ENSG00000108309	16984	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	RUN3A_HUMAN	RUNDC3A	HGNC	.	.	UPI0000EE7B82	SNV	RUNDC3A,synonymous_variant,p.%3D,ENST00000426726,;RUNDC3A,synonymous_variant,p.%3D,ENST00000225441,;RUNDC3A,synonymous_variant,p.%3D,ENST00000590941,;AC003102.3,intron_variant,,ENST00000588097,;AC003102.3,upstream_gene_variant,,ENST00000586388,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000587483,;RUNDC3A,upstream_gene_variant,,ENST00000588564,;RUNDC3A,upstream_gene_variant,,ENST00000593079,;	427	46	35	SUCCESS
SPATA20	64847	.	GRCh37	17	48626198	48626198	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	67	0	ENST00000356488.4:c.341A>G	p.His114Arg	p.H114R	ENST00000356488	NM_001258372.1	114	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS11571.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCACATGA	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF006402,Gene3D:3.40.30.10,Pfam_domain:PF03190,hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145	.	.	ENSP00000006658	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,missense_variant,p.His114Arg,ENST00000356488,;SPATA20,missense_variant,p.His130Arg,ENST00000006658,;SPATA20,missense_variant,p.His70Arg,ENST00000393244,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000510917,;SPATA20,3_prime_UTR_variant,,ENST00000502911,;SPATA20,3_prime_UTR_variant,,ENST00000505559,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000505456,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512416,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511845,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512181,;SPATA20,downstream_gene_variant,,ENST00000508598,;SPATA20,upstream_gene_variant,,ENST00000504271,;SPATA20,upstream_gene_variant,,ENST00000513618,;SPATA20,upstream_gene_variant,,ENST00000511347,;SPATA20,upstream_gene_variant,,ENST00000504265,;SPATA20,upstream_gene_variant,,ENST00000505656,;SPATA20,upstream_gene_variant,,ENST00000508528,;SPATA20,upstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000511605,;SPATA20,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000505085,;SPATA20,downstream_gene_variant,,ENST00000505336,;	509	67	65	SUCCESS
POLG2	11232	.	GRCh37	17	62488797	62488797	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1205	563	1659	0	ENST00000539111.2:c.782A>G	p.Gln261Arg	p.Q261R	ENST00000539111	NM_007215.3	261	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32706.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTGGAGT	NONE	.	.	Superfamily_domains:SSF55681,Gene3D:3.30.930.10,hmmpanther:PTHR10745	.	.	ENSP00000442563	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000539111	Transcript	.	.	ENSG00000256525	9180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	tolerated(0.75)	.	DPOG2_HUMAN	POLG2	HGNC	E5KS15_HUMAN,J3KRM2_HUMAN	.	UPI000012974A	SNV	POLG2,missense_variant,p.Gln261Arg,ENST00000539111,;POLG2,missense_variant,p.Gln14Arg,ENST00000581355,;POLG2,non_coding_transcript_exon_variant,,ENST00000578687,;POLG2,non_coding_transcript_exon_variant,,ENST00000580893,;POLG2,upstream_gene_variant,,ENST00000577506,;POLG2,3_prime_UTR_variant,,ENST00000578997,;POLG2,non_coding_transcript_exon_variant,,ENST00000585141,;AC138744.2,downstream_gene_variant,,ENST00000538774,;	850	1659	1769	SUCCESS
ATP5A1	0	.	GRCh37	18	43667308	43667308	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	92	158	0	ENST00000282050.2:c.950A>G	p.Gln317Arg	p.Q317R	ENST00000282050	NM_001001937.1	317	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS11927.1	950	RADIA|MUTECT|MUSE	.	TGACCTGTTTG	NONE	.	.	HAMAP:MF_01346,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF39,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00962,Pfam_domain:PF00006,Superfamily_domains:SSF52540	.	.	ENSP00000282050	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000282050	Transcript	.	.	ENSG00000152234	823	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.96)	.	deleterious_low_confidence(0)	.	ATPA_HUMAN	ATP5A1	HGNC	K7EQH4_HUMAN,K7ERX7_HUMAN,K7EK77_HUMAN,K7EJP1_HUMAN,B4DGW3_HUMAN	.	UPI000006221A	SNV	ATP5A1,missense_variant,p.Gln295Arg,ENST00000590665,;ATP5A1,missense_variant,p.Gln317Arg,ENST00000282050,;ATP5A1,missense_variant,p.Gln317Arg,ENST00000398752,;ATP5A1,missense_variant,p.Gln267Arg,ENST00000593152,;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,downstream_gene_variant,,ENST00000589252,;ATP5A1,splice_region_variant,,ENST00000590156,;ATP5A1,splice_region_variant,,ENST00000586592,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,intron_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;ATP5A1,upstream_gene_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;	1095	158	214	SUCCESS
ATP5A1	0	.	GRCh37	18	43667311	43667311	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	89	157	0	ENST00000282050.2:c.947A>G	p.Lys316Arg	p.K316R	ENST00000282050	NM_001001937.1	316	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS11927.1	947	RADIA|MUTECT|MUSE	.	CCTGTTTGGAT	NONE	.	.	HAMAP:MF_01346,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF39,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00962,Pfam_domain:PF00006,Superfamily_domains:SSF52540	.	.	ENSP00000282050	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000282050	Transcript	.	.	ENSG00000152234	823	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	ATPA_HUMAN	ATP5A1	HGNC	K7EQH4_HUMAN,K7ERX7_HUMAN,K7EK77_HUMAN,K7EJP1_HUMAN,B4DGW3_HUMAN	.	UPI000006221A	SNV	ATP5A1,missense_variant,p.Lys294Arg,ENST00000590665,;ATP5A1,missense_variant,p.Lys316Arg,ENST00000282050,;ATP5A1,missense_variant,p.Lys316Arg,ENST00000398752,;ATP5A1,missense_variant,p.Lys266Arg,ENST00000593152,;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,downstream_gene_variant,,ENST00000589252,;ATP5A1,3_prime_UTR_variant,,ENST00000590156,;ATP5A1,3_prime_UTR_variant,,ENST00000586592,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,intron_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;ATP5A1,upstream_gene_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;	1092	157	211	SUCCESS
SMAD4	4089	.	GRCh37	18	48593405	48593405	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1057519962	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	125	0	ENST00000342988.3:c.1156G>A	p.Gly386Ser	p.G386S	ENST00000342988	NM_005359.5	386	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11950.1	1156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGGTGTG	CODON|p.0?|c.1_1659del1659|28,BUFFER|p.G386R|c.1156G>C|5,BUFFER|p.G386V|c.1157G>T|4,BUFFER|p.G386D|c.1157G>A|10	.	.	PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879	.	.	ENSP00000341551	.	10/12	.	.	.	.	.	.	.	.	COSM14249,COSM1389070,COSM14147	10/12	PASS	ENST00000342988	Transcript	.	.	ENSG00000141646	6770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0.04)	1,1,1	SMAD4_HUMAN	SMAD4	HGNC	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN	.	UPI0000053431	SNV	SMAD4,missense_variant,p.Gly386Ser,ENST00000342988,;SMAD4,missense_variant,p.Gly386Ser,ENST00000398417,;SMAD4,missense_variant,p.Gly290Ser,ENST00000588745,;SMAD4,upstream_gene_variant,,ENST00000593223,;SMAD4,non_coding_transcript_exon_variant,,ENST00000590499,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,intron_variant,,ENST00000592186,;	1694	125	135	SUCCESS
TXNL1	9352	.	GRCh37	18	54291666	54291666	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	76	0	ENST00000217515.6:c.222A>T	p.Ser74=	p.S74=	ENST00000217515	NM_004786.2	74	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11961.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCTGATAT	NONE	.	.	hmmpanther:PTHR10438,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000217515	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000217515	Transcript	.	.	ENSG00000091164	12436	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXNL1_HUMAN	TXNL1	HGNC	K7EKG2_HUMAN,G3V1K0_HUMAN	.	UPI0000137838	SNV	TXNL1,synonymous_variant,p.%3D,ENST00000590954,;TXNL1,synonymous_variant,p.%3D,ENST00000587613,;TXNL1,synonymous_variant,p.%3D,ENST00000586262,;TXNL1,synonymous_variant,p.%3D,ENST00000217515,;TXNL1,5_prime_UTR_variant,,ENST00000540155,;TXNL1,3_prime_UTR_variant,,ENST00000587807,;	427	76	87	SUCCESS
SERPINB7	8710	.	GRCh37	18	61449699	61449699	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	24	70	0	ENST00000336429.2:c.93C>G	p.Ser31=	p.S31=	ENST00000336429	NM_001040147.2	31	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11988.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCTCTCT	BUFFER|p.S31F|c.92C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000381101	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000398019	Transcript	.	.	ENSG00000166396	13902	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPB7_HUMAN	SERPINB7	HGNC	Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN	.	UPI0000135DAA	SNV	SERPINB7,synonymous_variant,p.%3D,ENST00000431370,;SERPINB7,synonymous_variant,p.%3D,ENST00000447428,;SERPINB7,synonymous_variant,p.%3D,ENST00000398019,;SERPINB7,synonymous_variant,p.%3D,ENST00000425392,;SERPINB7,synonymous_variant,p.%3D,ENST00000540675,;SERPINB7,synonymous_variant,p.%3D,ENST00000546027,;SERPINB7,synonymous_variant,p.%3D,ENST00000336429,;	418	70	99	SUCCESS
SLC35E1	79939	.	GRCh37	19	16678874	16678874	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	53	0	ENST00000595753.1:c.599G>T	p.Cys200Phe	p.C200F	ENST00000595753	NM_024881.4	200	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS12346.2	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCACAGC	NONE	.	.	Pfam_domain:PF03151,hmmpanther:PTHR11132:SF31,hmmpanther:PTHR11132,Transmembrane_helices:TMhelix	.	.	ENSP00000470652	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000595753	Transcript	.	.	ENSG00000127526	20803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	tolerated(0.35)	.	S35E1_HUMAN	SLC35E1	HGNC	.	.	UPI000004D338	SNV	SLC35E1,missense_variant,p.Cys200Phe,ENST00000595753,;SLC35E1,missense_variant,p.Cys44Phe,ENST00000431408,;SLC35E1,intron_variant,,ENST00000436553,;CTD-3222D19.10,downstream_gene_variant,,ENST00000597851,;SLC35E1,upstream_gene_variant,,ENST00000470077,;SLC35E1,upstream_gene_variant,,ENST00000600356,;SLC35E1,missense_variant,p.Cys45Phe,ENST00000409648,;SLC35E1,non_coding_transcript_exon_variant,,ENST00000488894,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	617	53	50	SUCCESS
ZNF527	84503	.	GRCh37	19	37880628	37880628	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	58	0	ENST00000436120.2:c.1677T>G	p.Cys559Trp	p.C559W	ENST00000436120	NM_032453.1	559	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS42559.1	1677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGTGGGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000390179	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000436120	Transcript	.	.	ENSG00000189164	29385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,missense_variant,p.Cys559Trp,ENST00000436120,;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,downstream_gene_variant,,ENST00000588512,;	1784	58	46	SUCCESS
ZNF527	84503	.	GRCh37	19	37880629	37880629	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	58	0	ENST00000436120.2:c.1678G>T	p.Gly560Trp	p.G560W	ENST00000436120	NM_032453.1	560	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS42559.1	1678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTGGGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000390179	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000436120	Transcript	.	.	ENSG00000189164	29385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,missense_variant,p.Gly560Trp,ENST00000436120,;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,downstream_gene_variant,,ENST00000588512,;	1785	58	45	SUCCESS
CREB3L3	84699	.	GRCh37	19	4171378	4171378	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	62	0	ENST00000078445.2:c.976-2A>G		p.X326_splice	ENST00000078445	NM_032607.2	326		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12121.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGGTCC	NONE	.	.	.	.	.	ENSP00000078445	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000078445	Transcript	1	.	ENSG00000060566	18855	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR3L3_HUMAN	CREB3L3	HGNC	.	.	UPI000006FCF0	SNV	CREB3L3,splice_acceptor_variant,,ENST00000602147,;CREB3L3,splice_acceptor_variant,,ENST00000252587,;CREB3L3,splice_acceptor_variant,,ENST00000078445,;CREB3L3,splice_acceptor_variant,,ENST00000602257,;CREB3L3,splice_acceptor_variant,,ENST00000595923,;SIRT6,downstream_gene_variant,,ENST00000601488,;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000381935,;SIRT6,downstream_gene_variant,,ENST00000337491,;SIRT6,downstream_gene_variant,,ENST00000594279,;SIRT6,downstream_gene_variant,,ENST00000305232,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,splice_acceptor_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599365,;SIRT6,downstream_gene_variant,,ENST00000600938,;SIRT6,downstream_gene_variant,,ENST00000599394,;SIRT6,downstream_gene_variant,,ENST00000601069,;	.	62	71	SUCCESS
CKM	1158	.	GRCh37	19	45821217	45821217	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1803285	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	78	0	ENST00000221476.3:c.214G>A	p.Val72Met	p.V72M	ENST00000221476	NM_001824.4	72	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS12659.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGGTCA	NONE	.	.	PROSITE_profiles:PS51509,hmmpanther:PTHR11547,Gene3D:1.10.135.10,Pfam_domain:PF02807,Superfamily_domains:SSF48034	.	.	ENSP00000221476	.	3/8	.	.	.	.	.	.	.	.	rs1803285,COSM190856	3/8	PASS	ENST00000221476	Transcript	.	.	ENSG00000104879	1994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.749)	.	deleterious(0.02)	0,1	KCRM_HUMAN	CKM	HGNC	.	.	UPI000012DCC3	SNV	CKM,missense_variant,p.Val72Met,ENST00000221476,;	389	78	89	SUCCESS
CCDC8	83987	.	GRCh37	19	46916802	46916802	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	44	103	0	ENST00000307522.3:c.-735G>T		p.*245*	ENST00000307522	NM_032040.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12685.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCGCGC	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,5_prime_UTR_variant,,ENST00000307522,;	40	103	116	SUCCESS
KDM4B	23030	.	GRCh37	19	5131976	5131976	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	69	222	0	ENST00000159111.4:c.1864T>C	p.Ser622Pro	p.S622P	ENST00000159111	NM_015015.2	622	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS12138.1	1864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGTCCCCA	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30	.	.	ENSP00000159111	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000159111	Transcript	.	.	ENSG00000127663	29136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	.	.	KDM4B_HUMAN	KDM4B	HGNC	K7ES23_HUMAN	.	UPI00001C202B	SNV	KDM4B,missense_variant,p.Ser368Pro,ENST00000588361,;KDM4B,missense_variant,p.Ser656Pro,ENST00000536461,;KDM4B,missense_variant,p.Ser622Pro,ENST00000159111,;KDM4B,upstream_gene_variant,,ENST00000588166,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	2082	222	236	SUCCESS
ZNF761	388561	.	GRCh37	19	53959745	53959745	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	rs146356671	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	73	0	ENST00000454407.1:n.2437T>G		p.*813*	ENST00000454407				0	C:0.0032	C:0.0045	.	C:0	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTTACAAG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0	.	C:0	5/5	.	.	.	.	.	.	.	.	rs146356671	5/5	PASS	ENST00000454407	Transcript	.	C:0.0012	ENSG00000160336	23179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	ZNF761	HGNC	.	.	.	SNV	ZNF761,non_coding_transcript_exon_variant,,ENST00000429310,;ZNF761,non_coding_transcript_exon_variant,,ENST00000454407,;ZNF761,non_coding_transcript_exon_variant,,ENST00000334095,;ZNF761,non_coding_transcript_exon_variant,,ENST00000432094,;	2437	73	83	SUCCESS
MAN1A2	10905	.	GRCh37	1	117948198	117948198	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	377	197	543	0	ENST00000356554.3:c.586A>T	p.Arg196Trp	p.R196W	ENST00000356554	NM_006699.3	196	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS895.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATAGGACA	NONE	.	.	hmmpanther:PTHR11742:SF40,hmmpanther:PTHR11742,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225,Prints_domain:PR00747	.	.	ENSP00000348959	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000356554	Transcript	.	.	ENSG00000198162	6822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	deleterious(0)	.	MA1A2_HUMAN	MAN1A2	HGNC	.	.	UPI0000052B45	SNV	MAN1A2,missense_variant,p.Arg196Trp,ENST00000356554,;MAN1A2,intron_variant,,ENST00000482811,;	1321	544	574	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144916634	144916634	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	18	115	0	ENST00000369354.3:c.1721A>G	p.Lys574Arg	p.K574R	ENST00000369354		574	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS55627.1	1721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTTCTGC	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	13/44	.	.	.	.	.	.	.	.	.	13/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	tolerated(0.17)	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.Lys361Arg,ENST00000479408,;PDE4DIP,missense_variant,p.Lys574Arg,ENST00000369354,;PDE4DIP,missense_variant,p.Lys574Arg,ENST00000369349,;PDE4DIP,missense_variant,p.Lys711Arg,ENST00000369359,;PDE4DIP,missense_variant,p.Lys737Arg,ENST00000313431,;PDE4DIP,missense_variant,p.Lys711Arg,ENST00000530740,;PDE4DIP,missense_variant,p.Lys640Arg,ENST00000313382,;PDE4DIP,missense_variant,p.Lys574Arg,ENST00000369356,;PDE4DIP,missense_variant,p.Lys737Arg,ENST00000529945,;PDE4DIP,missense_variant,p.Lys574Arg,ENST00000369351,;PDE4DIP,downstream_gene_variant,,ENST00000532801,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,upstream_gene_variant,,ENST00000533963,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,downstream_gene_variant,,ENST00000496263,;	2012	115	123	SUCCESS
FCRL5	83416	.	GRCh37	1	157509048	157509048	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	70	0	ENST00000361835.3:c.1230C>G	p.Ile410Met	p.I410M	ENST00000361835	NM_001195388.1	410	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1165.1	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGGATGGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Ile410Met,ENST00000361835,;FCRL5,missense_variant,p.Ile410Met,ENST00000368190,;FCRL5,missense_variant,p.Ile410Met,ENST00000368189,;FCRL5,missense_variant,p.Ile410Met,ENST00000356953,;FCRL5,missense_variant,p.Ile325Met,ENST00000368191,;FCRL5,downstream_gene_variant,,ENST00000481082,;	1388	70	79	SUCCESS
OR6P1	128366	.	GRCh37	1	158532619	158532619	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	97	0	ENST00000334632.1:c.776A>C	p.Tyr259Ser	p.Y259S	ENST00000334632	NM_001160325.1	259	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS53391.1	776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATAGGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,missense_variant,p.Tyr259Ser,ENST00000334632,;	776	97	110	SUCCESS
METTL18	92342	.	GRCh37	1	169761806	169761807	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	333	95	283	0	ENST00000303469.2:c.1030dup	p.Arg344LysfsTer5	p.R344Kfs*5	ENST00000303469		344	aga/aAga	0	.	.	.	.	.	T	R/KX	protein_coding	YES	CCDS1284.1	1030-1031	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCTCTTTCT	NONE	.	.	hmmpanther:PTHR21095,hmmpanther:PTHR21095:SF0,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000307975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310392	Transcript	.	.	ENSG00000171806	28793	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MET18_HUMAN	METTL18	HGNC	Q5TI78_HUMAN	.	UPI000006EC5C	insertion	METTL18,frameshift_variant,p.Arg344LysfsTer5,ENST00000310392,;METTL18,frameshift_variant,p.Arg344LysfsTer5,ENST00000303469,;C1orf112,upstream_gene_variant,,ENST00000286031,;C1orf112,upstream_gene_variant,,ENST00000456684,;C1orf112,upstream_gene_variant,,ENST00000359326,;METTL18,downstream_gene_variant,,ENST00000454472,;C1orf112,upstream_gene_variant,,ENST00000413811,;C1orf112,intron_variant,,ENST00000498289,;C1orf112,upstream_gene_variant,,ENST00000459772,;C1orf112,upstream_gene_variant,,ENST00000466580,;C1orf112,upstream_gene_variant,,ENST00000496973,;C1orf112,upstream_gene_variant,,ENST00000481744,;C1orf112,upstream_gene_variant,,ENST00000472795,;	1384-1385	283	428	SUCCESS
SDCCAG8	10806	.	GRCh37	1	243434288	243434288	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	68	207	0	ENST00000366541.3:c.229C>G	p.Leu77Val	p.L77V	ENST00000366541	NM_006642.3	77	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS31075.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCTCAAA	NONE	.	.	.	.	.	ENSP00000355499	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000366541	Transcript	.	.	ENSG00000054282	10671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SDCG8_HUMAN	SDCCAG8	HGNC	A6NCS9_HUMAN	.	UPI000000D77E	SNV	SDCCAG8,missense_variant,p.Leu77Val,ENST00000355875,;SDCCAG8,missense_variant,p.Leu77Val,ENST00000391846,;SDCCAG8,missense_variant,p.Leu77Val,ENST00000366541,;SDCCAG8,intron_variant,,ENST00000343783,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000490065,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000491888,;SDCCAG8,upstream_gene_variant,,ENST00000482234,;FCF1P7,upstream_gene_variant,,ENST00000451185,;	347	207	206	SUCCESS
OR2T6	254879	.	GRCh37	1	248551453	248551453	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs548026945	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	28	115	0	ENST00000355728.2:c.546del	p.Thr183ProfsTer3	p.T183Pfs*3	ENST00000355728	NM_001005471.1	182	Ccc/cc	0	.	T:0	.	T:0	.	-	P/X	protein_coding	YES	CCDS31114.1	544	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGCACCCACC	NONE	by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	T:0	.	ENSP00000347965	T:0	1/1	.	.	.	.	.	.	.	.	rs548026945,COSM389756	1/1	PASS	ENST00000355728	Transcript	.	T:0.0002	ENSG00000198104	15018	2	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0.001	.	0,1	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	deletion	OR2T6,frameshift_variant,p.Thr183ProfsTer3,ENST00000355728,;	544	115	163	SUCCESS
SRRM1	10250	.	GRCh37	1	24998064	24998064	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	63	189	0	ENST00000323848.9:c.2588T>C	p.Val863Ala	p.V863A	ENST00000323848	NM_005839.3	863	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS255.1	2588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23148	.	.	ENSP00000326261	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000323848	Transcript	.	.	ENSG00000133226	16638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRRM1_HUMAN	SRRM1	HGNC	M0QXG5_HUMAN	.	UPI000013EBEB	SNV	SRRM1,missense_variant,p.Val863Ala,ENST00000323848,;SRRM1,missense_variant,p.Val875Ala,ENST00000447431,;SRRM1,missense_variant,p.Val872Ala,ENST00000374389,;SRRM1,downstream_gene_variant,,ENST00000537199,;SRRM1,downstream_gene_variant,,ENST00000596378,;snoU13,upstream_gene_variant,,ENST00000459464,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,downstream_gene_variant,,ENST00000461768,;SRRM1,downstream_gene_variant,,ENST00000474843,;SRRM1,downstream_gene_variant,,ENST00000489130,;	2903	189	201	SUCCESS
CTPS1	1503	.	GRCh37	1	41449049	41449049	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	77	218	0	ENST00000372616.1:c.87A>G	p.Ser29=	p.S29=	ENST00000372616		29	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS459.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATGTGG	NONE	.	.	HAMAP:MF_01227,hmmpanther:PTHR11550,hmmpanther:PTHR11550:SF3,Pfam_domain:PF06418,TIGRFAM_domain:TIGR00337,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000361704	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000372621	Transcript	.	.	ENSG00000171793	2519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYRG1_HUMAN	CTPS1	HGNC	B4E1E0_HUMAN,B4DR64_HUMAN	.	UPI0000132D63	SNV	CTPS1,synonymous_variant,p.%3D,ENST00000543104,;CTPS1,synonymous_variant,p.%3D,ENST00000372616,;CTPS1,synonymous_variant,p.%3D,ENST00000372621,;CTPS1,intron_variant,,ENST00000541520,;CTPS1,non_coding_transcript_exon_variant,,ENST00000475060,;CTPS1,non_coding_transcript_exon_variant,,ENST00000470271,;CTPS1,non_coding_transcript_exon_variant,,ENST00000479480,;	595	218	237	SUCCESS
CCDC17	149483	.	GRCh37	1	46087108	46087108	+	synonymous_variant	Silent	SNP	G	G	A	rs1285792363	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	74	232	0	ENST00000528266.1:c.1233C>T	p.Ser411=	p.S411=	ENST00000528266		411	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS44131.2	1233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGGAAGC	NONE	.	.	.	.	.	ENSP00000432172	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000528266	Transcript	.	.	ENSG00000159588	26574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD17_HUMAN	CCDC17	HGNC	.	.	UPI0001AE78A9	SNV	CCDC17,synonymous_variant,p.%3D,ENST00000528266,;CCDC17,synonymous_variant,p.%3D,ENST00000343901,;CCDC17,synonymous_variant,p.%3D,ENST00000421127,;CCDC17,intron_variant,,ENST00000445048,;NASP,downstream_gene_variant,,ENST00000402363,;NASP,downstream_gene_variant,,ENST00000350030,;NASP,downstream_gene_variant,,ENST00000534450,;NASP,downstream_gene_variant,,ENST00000537798,;NASP,downstream_gene_variant,,ENST00000351223,;NASP,downstream_gene_variant,,ENST00000531612,;NASP,downstream_gene_variant,,ENST00000372052,;CCDC17,intron_variant,,ENST00000464739,;NASP,downstream_gene_variant,,ENST00000530073,;CCDC17,synonymous_variant,p.%3D,ENST00000479529,;CCDC17,3_prime_UTR_variant,,ENST00000372044,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;CCDC17,downstream_gene_variant,,ENST00000525599,;NASP,downstream_gene_variant,,ENST00000481782,;NASP,downstream_gene_variant,,ENST00000472408,;	1381	232	212	SUCCESS
JAK1	3716	.	GRCh37	1	65305399	65305399	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	94	0	ENST00000342505.4:c.2729T>C	p.Leu910Pro	p.L910P	ENST00000342505	NM_002227.2	910	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41346.1	2729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGAGAT	SITE|p.L910P|c.2729T>C|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	20/25	.	.	.	.	.	.	.	.	COSM1602623	20/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Leu910Pro,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000481702,;JAK1,downstream_gene_variant,,ENST00000471473,;JAK1,downstream_gene_variant,,ENST00000465376,;	2978	94	71	SUCCESS
CAMTA1	23261	.	GRCh37	1	7798171	7798171	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	61	0	ENST00000303635.7:c.3811A>C	p.Asn1271His	p.N1271H	ENST00000303635	NM_015215.2	1271	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS30576.1	3811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAAATATC	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.229)	.	tolerated_low_confidence(0.06)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Asn1271His,ENST00000303635,;CAMTA1,missense_variant,p.Asn228His,ENST00000495233,;CAMTA1,missense_variant,p.Asn1271His,ENST00000439411,;	4018	61	80	SUCCESS
TMEM56	0	.	GRCh37	1	95609466	95609466	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	25	106	0	ENST00000370203.4:c.9del	p.Asn4ThrfsTer23	p.N4Tfs*23	ENST00000370203	NM_152487.2	3	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS753.1	9	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGATCAACAC	NONE	.	.	hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF1	.	.	ENSP00000359222	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000370203	Transcript	.	.	ENSG00000152078	26477	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMM56_HUMAN	TMEM56	HGNC	C9JJM2_HUMAN,C9J6J2_HUMAN	.	UPI00000700A5	deletion	TMEM56,frameshift_variant,p.Asn4ThrfsTer23,ENST00000370203,;TMEM56-RWDD3,frameshift_variant,p.Asn4ThrfsTer23,ENST00000604534,;TMEM56,frameshift_variant,p.Asn4ThrfsTer23,ENST00000455656,;TMEM56,frameshift_variant,p.Asn4ThrfsTer23,ENST00000456991,;TMEM56,non_coding_transcript_exon_variant,,ENST00000463375,;	300	106	136	SUCCESS
PCSK2	5126	.	GRCh37	20	17207880	17207880	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	21	1	ENST00000262545.2:c.-71A>G		p.*24*	ENST00000262545	NM_002594.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13125.1	.	SOMATICSNIPER|VARSCANS	.	TTTGCACCCTC	NONE	.	.	.	.	.	ENSP00000262545	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000262545	Transcript	.	.	ENSG00000125851	8744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEC2_HUMAN	PCSK2	HGNC	Q9UM69_HUMAN	.	UPI0000000C6E	SNV	PCSK2,5_prime_UTR_variant,,ENST00000262545,;PCSK2,5_prime_UTR_variant,,ENST00000536609,;PCSK2,intron_variant,,ENST00000377899,;PCSK2,upstream_gene_variant,,ENST00000470007,;	245	22	26	SUCCESS
SLC4A11	83959	.	GRCh37	20	3214949	3214949	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	83	0	ENST00000380056.3:c.351A>C	p.Leu117Phe	p.L117F	ENST00000380056	NM_032034.3	117	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS54445.1	432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTAACTT	NONE	.	.	hmmpanther:PTHR11453:SF35,hmmpanther:PTHR11453	.	.	ENSP00000369399	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000380059	Transcript	1	.	ENSG00000088836	16438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated(0.05)	.	.	SLC4A11	HGNC	R9UQR4_HUMAN,R9UQ67_HUMAN,R9UQ64_HUMAN,R9UQ62_HUMAN,R9UQ58_HUMAN,R9UNY3_HUMAN	.	UPI00000738A5	SNV	SLC4A11,missense_variant,p.Leu101Phe,ENST00000539553,;SLC4A11,missense_variant,p.Leu117Phe,ENST00000380056,;SLC4A11,missense_variant,p.Leu144Phe,ENST00000380059,;SLC4A11,missense_variant,p.Leu82Phe,ENST00000437836,;SLC4A11,upstream_gene_variant,,ENST00000470631,;SLC4A11,upstream_gene_variant,,ENST00000488544,;SLC4A11,missense_variant,p.Leu82Phe,ENST00000474451,;	534	83	85	SUCCESS
ADIG	149685	.	GRCh37	20	37209925	37209925	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	107	0	ENST00000470147.1:c.32A>G	p.Asp11Gly	p.D11G	ENST00000470147		11	gAc/gGc	0	.	.	.	.	.	G	D/G	nonsense_mediated_decay	YES	CCDS54461.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACGACCTCA	NONE	.	.	Pfam_domain:PF15202	.	.	ENSP00000434385	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000470147	Transcript	.	.	ENSG00000182035	28606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	deleterious(0.01)	.	ADIG_HUMAN	ADIG	HGNC	.	.	UPI00005190EA	SNV	ADIG,missense_variant,p.Asp6Gly,ENST00000537425,;ADIG,missense_variant,p.Asp11Gly,ENST00000373348,;RALGAPB,downstream_gene_variant,,ENST00000397042,;ADIG,upstream_gene_variant,,ENST00000416116,;RALGAPB,downstream_gene_variant,,ENST00000397040,;RALGAPB,downstream_gene_variant,,ENST00000397038,;RALGAPB,downstream_gene_variant,,ENST00000262879,;ADIG,missense_variant,p.Asp11Gly,ENST00000470147,;RALGAPB,downstream_gene_variant,,ENST00000461147,;	88	107	101	SUCCESS
DIDO1	11083	.	GRCh37	20	61528235	61528235	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	123	0	ENST00000266070.4:c.1702C>T	p.Pro568Ser	p.P568S	ENST00000266070	NM_033081.2	568	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33506.1	1702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGCACGA	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	7/16	.	.	.	.	.	.	.	.	COSM1713786,COSM3548804	7/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.288)	.	.	1,1	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Pro568Ser,ENST00000266070,;DIDO1,missense_variant,p.Pro568Ser,ENST00000395335,;DIDO1,missense_variant,p.Pro568Ser,ENST00000395340,;DIDO1,missense_variant,p.Pro568Ser,ENST00000395343,;	2028	123	134	SUCCESS
APP	351	.	GRCh37	21	27372473	27372473	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs557227002	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	87	0	ENST00000346798.3:c.890C>A	p.Thr297Lys	p.T297K	ENST00000346798	NM_000484.3	297	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS13576.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGTCTCG	NONE	byFrequency|byCluster	.	Prints_domain:PR00759,Superfamily_domains:SSF57362,SMART_domains:SM00131,Pfam_domain:PF00014,Gene3D:4.10.410.10,hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103,PROSITE_profiles:PS50279	.	.	ENSP00000284981	.	7/18	.	.	.	.	.	.	.	.	rs557227002,COSM3357282	7/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.944)	.	deleterious(0)	0,1	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,missense_variant,p.Thr292Lys,ENST00000440126,;APP,missense_variant,p.Thr297Lys,ENST00000358918,;APP,missense_variant,p.Thr297Lys,ENST00000357903,;APP,missense_variant,p.Thr297Lys,ENST00000346798,;APP,missense_variant,p.Thr219Lys,ENST00000448850,;APP,missense_variant,p.Thr241Lys,ENST00000439274,;APP,intron_variant,,ENST00000415997,;APP,intron_variant,,ENST00000359726,;APP,intron_variant,,ENST00000354192,;APP,intron_variant,,ENST00000348990,;APP,intron_variant,,ENST00000448388,;APP,non_coding_transcript_exon_variant,,ENST00000491395,;	924	87	68	SUCCESS
PI4KA	5297	.	GRCh37	22	21065133	21065133	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	139	0	ENST00000255882.6:c.5937G>A	p.Met1979Ile	p.M1979I	ENST00000255882	NM_058004.3	1979	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS33603.2	5937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAACATGAA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00146,Pfam_domain:PF00454,Gene3D:1.10.1070.11,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15,PROSITE_profiles:PS50290	.	.	ENSP00000255882	.	52/55	.	.	.	.	.	.	.	.	.	52/55	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0.01)	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,missense_variant,p.Met731Ile,ENST00000414196,;PI4KA,missense_variant,p.Met1921Ile,ENST00000572273,;PI4KA,missense_variant,p.Met1979Ile,ENST00000255882,;PI4KA,missense_variant,p.Met312Ile,ENST00000399213,;PI4KA,non_coding_transcript_exon_variant,,ENST00000482030,;PI4KA,non_coding_transcript_exon_variant,,ENST00000492581,;PI4KA,non_coding_transcript_exon_variant,,ENST00000477245,;PI4KA,non_coding_transcript_exon_variant,,ENST00000466772,;PI4KA,downstream_gene_variant,,ENST00000466394,;	6024	139	114	SUCCESS
SUSD2	56241	.	GRCh37	22	24581750	24581750	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758581195	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	56	0	ENST00000358321.3:c.1192C>T	p.Arg398Cys	p.R398C	ENST00000358321	NM_019601.3	398	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13824.1	1192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCCGCACG	NONE	byFrequency	.	SMART_domains:SM00723,Pfam_domain:PF03782,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS50856	.	.	ENSP00000351075	.	8/15	.	.	.	.	.	.	.	.	rs758581195,COSM3708174	8/15	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.953)	.	deleterious(0.03)	0,1	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,missense_variant,p.Arg398Cys,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	1453	56	44	SUCCESS
SAMM50	25813	.	GRCh37	22	44351329	44351329	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	53	0	ENST00000350028.4:c.-129C>T		p.*43*	ENST00000350028	NM_015380.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14055.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCGCGTC	NONE	.	.	.	.	.	ENSP00000345445	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000350028	Transcript	.	.	ENSG00000100347	24276	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SAM50_HUMAN	SAMM50	HGNC	A8MZI2_HUMAN	.	UPI000016A33D	SNV	SAMM50,5_prime_UTR_variant,,ENST00000350028,;SAMM50,upstream_gene_variant,,ENST00000396202,;SAMM50,non_coding_transcript_exon_variant,,ENST00000493161,;PNPLA3,intron_variant,,ENST00000406117,;RP4-796I17.5,upstream_gene_variant,,ENST00000430869,;	29	53	64	SUCCESS
ZBED4	9889	.	GRCh37	22	50279247	50279247	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	70	0	ENST00000216268.5:c.1937A>T	p.Glu646Val	p.E646V	ENST00000216268	NM_014838.2	646	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33677.1	1937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGAGAAGT	NONE	.	.	hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF6	.	.	ENSP00000216268	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000216268	Transcript	.	.	ENSG00000100426	20721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.623)	.	deleterious(0)	.	ZBED4_HUMAN	ZBED4	HGNC	.	.	UPI000013C6DB	SNV	ZBED4,missense_variant,p.Glu646Val,ENST00000216268,;	2414	70	81	SUCCESS
WDR33	55339	.	GRCh37	2	128466455	128466455	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	47	0	ENST00000322313.4:c.3577G>T	p.Glu1193Ter	p.E1193*	ENST00000322313	NM_018383.4	1193	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2150.1	3577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCATGAC	NONE	.	.	hmmpanther:PTHR22836	.	.	ENSP00000325377	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,stop_gained,p.Glu1193Ter,ENST00000322313,;	3736	47	59	SUCCESS
TTN	7273	.	GRCh37	2	179600577	179600577	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	90	1	ENST00000591111.1:c.13645T>C	p.Ser4549Pro	p.S4549P	ENST00000591111		4549	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS59435.1	14596	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGAATAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	50/363	.	.	.	.	.	.	.	.	.	50/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser3622Pro,ENST00000342992,;TTN,missense_variant,p.Ser4866Pro,ENST00000589042,;TTN,missense_variant,p.Ser4549Pro,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;	14821	92	116	SUCCESS
COL4A4	1286	.	GRCh37	2	227924168	227924168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	56	184	0	ENST00000396625.3:c.2336C>A	p.Pro779Gln	p.P779Q	ENST00000396625	NM_000092.4	779	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS42828.1	2336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGGCACT	NONE	.	.	hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021	.	.	ENSP00000379866	.	28/48	.	.	.	.	.	.	.	.	.	28/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Pro779Gln,ENST00000329662,;COL4A4,missense_variant,p.Pro779Gln,ENST00000396625,;	2544	184	170	SUCCESS
SP140L	93349	.	GRCh37	2	231236540	231236540	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	99	0	ENST00000415673.2:c.637+174A>G		p.*213*	ENST00000415673	NM_138402.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46538.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTATCTTA	NONE	.	.	.	.	.	ENSP00000397911	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000415673	Transcript	.	.	ENSG00000185404	25105	.	.	MODIFIER	7/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP14L_HUMAN	SP140L	HGNC	.	.	UPI000020974D	SNV	SP140L,3_prime_UTR_variant,,ENST00000458341,;SP140L,intron_variant,,ENST00000444636,;SP140L,intron_variant,,ENST00000415673,;SP140L,intron_variant,,ENST00000396563,;SP140L,intron_variant,,ENST00000243810,;SP140L,intron_variant,,ENST00000483728,;	.	99	77	SUCCESS
TMEM214	54867	.	GRCh37	2	27260542	27260542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	37	91	0	ENST00000238788.9:c.1124C>A	p.Pro375His	p.P375H	ENST00000238788	NM_017727.4	375	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS42664.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCTAGCT	NONE	.	.	hmmpanther:PTHR13448,Pfam_domain:PF10151	.	.	ENSP00000238788	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000238788	Transcript	.	.	ENSG00000119777	25983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.01)	.	TM214_HUMAN	TMEM214	HGNC	B2RD07_HUMAN	.	UPI00003FF926	SNV	TMEM214,missense_variant,p.Pro134His,ENST00000425720,;TMEM214,missense_variant,p.Pro330His,ENST00000404032,;TMEM214,missense_variant,p.Pro375His,ENST00000238788,;TMEM214,upstream_gene_variant,,ENST00000444135,;AGBL5,upstream_gene_variant,,ENST00000421915,;TMEM214,missense_variant,p.Pro375His,ENST00000321326,;TMEM214,missense_variant,p.Pro213His,ENST00000435172,;TMEM214,non_coding_transcript_exon_variant,,ENST00000460904,;TMEM214,upstream_gene_variant,,ENST00000469445,;TMEM214,upstream_gene_variant,,ENST00000460665,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,downstream_gene_variant,,ENST00000495312,;TMEM214,downstream_gene_variant,,ENST00000478980,;TMEM214,downstream_gene_variant,,ENST00000475258,;	1186	91	116	SUCCESS
CAPN14	440854	.	GRCh37	2	31414917	31414917	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752121613	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	82	0	ENST00000403897.3:c.1162G>A	p.Glu388Lys	p.E388K	ENST00000403897	NM_001145122.1	388	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46254.1	1162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGGGCC	NONE	.	.	hmmpanther:PTHR10183:SF285,hmmpanther:PTHR10183,Gene3D:2.60.120.380,Pfam_domain:PF01067,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000385247	.	11/22	.	.	.	.	.	.	.	.	rs752121613	11/22	PASS	ENST00000403897	Transcript	.	.	ENSG00000214711	16664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.36)	.	CAN14_HUMAN	CAPN14	HGNC	D6W573_HUMAN	.	UPI000173A463	SNV	CAPN14,missense_variant,p.Glu388Lys,ENST00000444918,;CAPN14,missense_variant,p.Glu388Lys,ENST00000403897,;CAPN14,3_prime_UTR_variant,,ENST00000398824,;	1304	82	89	SUCCESS
XDH	7498	.	GRCh37	2	31625953	31625953	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	54	0	ENST00000379416.3:c.158T>C	p.Val53Ala	p.V53A	ENST00000379416	NM_000379.3	53	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS1775.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCACTGTG	NONE	.	.	Superfamily_domains:SSF54292,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,Gene3D:3.10.20.30,Pfam_domain:PF00111,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908,PROSITE_profiles:PS51085	.	.	ENSP00000368727	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000379416	Transcript	.	.	ENSG00000158125	12805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,missense_variant,p.Val53Ala,ENST00000379416,;	207	54	58	SUCCESS
SIX2	10736	.	GRCh37	2	45233483	45233483	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	52	0	ENST00000303077.6:c.702C>T	p.Ser234=	p.S234=	ENST00000303077	NM_016932.4	234	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS1822.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGCTGAG	NONE	.	.	hmmpanther:PTHR10390:SF29,hmmpanther:PTHR10390,Low_complexity_(Seg):seg	.	.	ENSP00000304502	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303077	Transcript	.	.	ENSG00000170577	10888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX2_HUMAN	SIX2	HGNC	.	.	UPI00001359C0	SNV	SIX2,synonymous_variant,p.%3D,ENST00000303077,;	1022	52	73	SUCCESS
MPHOSPH10	10199	.	GRCh37	2	71361819	71361824	+	inframe_deletion	In_Frame_Del	DEL	AGTGAC	AGTGAC	-	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	AGTGAC	AGTGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	211	64	295	0	ENST00000244230.2:c.990_995del	p.Arg330_Thr332delinsSer	p.R330_T332delinsS	ENST00000244230	NM_005791.2	330	agAGTGACc/agc	0	.	.	.	.	.	-	RVT/S	protein_coding	YES	CCDS1916.1	990-995	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAAGAGTGACCTTTG	NONE	.	.	hmmpanther:PTHR17039,Pfam_domain:PF04006,PIRSF_domain:PIRSF017300	.	.	ENSP00000244230	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000244230	Transcript	.	.	ENSG00000124383	7213	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPP10_HUMAN	MPHOSPH10	HGNC	.	.	UPI000012F41D	deletion	MPHOSPH10,inframe_deletion,p.Arg330_Thr332delinsSer,ENST00000244230,;MPHOSPH10,inframe_deletion,p.Arg330_Thr332delinsSer,ENST00000498451,;MCEE,upstream_gene_variant,,ENST00000486135,;MCEE,upstream_gene_variant,,ENST00000244217,;MCEE,upstream_gene_variant,,ENST00000494660,;MPHOSPH10,downstream_gene_variant,,ENST00000468427,;	1342-1347	295	275	SUCCESS
IQSEC1	9922	.	GRCh37	3	12963694	12963694	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	73	0	ENST00000273221.4:c.1821C>A	p.Ala607=	p.A607=	ENST00000273221	NM_014869.5	607	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33703.1	1821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGGCCTC	NONE	.	.	Superfamily_domains:SSF48425,SMART_domains:SM00222,Gene3D:1.10.1000.11,Pfam_domain:PF01369,hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663,PROSITE_profiles:PS50190	.	.	ENSP00000273221	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000273221	Transcript	.	.	ENSG00000144711	29112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQEC1_HUMAN	IQSEC1	HGNC	.	.	UPI00003E1F36	SNV	IQSEC1,synonymous_variant,p.%3D,ENST00000429247,;IQSEC1,synonymous_variant,p.%3D,ENST00000273221,;IQSEC1,synonymous_variant,p.%3D,ENST00000450726,;	2038	73	70	SUCCESS
CNTN6	27255	.	GRCh37	3	1367631	1367631	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	110	0	ENST00000350110.2:c.1079C>A	p.Pro360Gln	p.P360Q	ENST00000350110	NM_014461.2	360	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS2557.1	1079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCCAGAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000407822	.	9/23	.	.	.	.	.	.	.	.	COSM1536767	9/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.653)	.	tolerated(0.17)	1	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Pro288Gln,ENST00000539053,;CNTN6,missense_variant,p.Pro360Gln,ENST00000446702,;CNTN6,missense_variant,p.Pro360Gln,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	1706	110	93	SUCCESS
TRIM42	287015	.	GRCh37	3	140401928	140401928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	38	129	0	ENST00000286349.3:c.966C>A	p.Asp322Glu	p.D322E	ENST00000286349	NM_152616.4	322	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS3113.1	966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGACACCAT	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000286349	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(1)	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,missense_variant,p.Asp322Glu,ENST00000286349,;	1157	129	118	SUCCESS
ZBBX	79740	.	GRCh37	3	167086516	167086516	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	8	0	ENST00000392766.2:c.69-154A>G		p.*23*	ENST00000392766	NM_001199201.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56296.1	.	MUTECT|MUSE	.	AAAGTTAGCAT	NONE	.	.	.	.	.	ENSP00000390232	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000455345	Transcript	.	.	ENSG00000169064	26245	.	.	MODIFIER	3/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBBX_HUMAN	ZBBX	HGNC	C9JVV2_HUMAN	.	UPI000020A746	SNV	ZBBX,5_prime_UTR_variant,,ENST00000485651,;ZBBX,5_prime_UTR_variant,,ENST00000392764,;ZBBX,intron_variant,,ENST00000455345,;ZBBX,intron_variant,,ENST00000392767,;ZBBX,intron_variant,,ENST00000307529,;ZBBX,intron_variant,,ENST00000474464,;ZBBX,intron_variant,,ENST00000392766,;ZBBX,intron_variant,,ENST00000469220,;ZBBX,intron_variant,,ENST00000473888,;	.	8	17	SUCCESS
GOLGA4	2803	.	GRCh37	3	37402755	37402755	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	100	0	ENST00000361924.2:c.6685A>G	p.Ile2229Val	p.I2229V	ENST00000361924	NM_002078.4	2229	Atc/Gtc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54564.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTATCTTC	NONE	.	.	.	.	.	ENSP00000349305	.	.	.	.	.	.	.	.	.	.	COSM3974392	.	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	MODIFIER	22/22	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,missense_variant,p.Ile2229Val,ENST00000361924,;GOLGA4,intron_variant,,ENST00000356847,;GOLGA4,intron_variant,,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;	.	100	111	SUCCESS
DLEC1	9940	.	GRCh37	3	38159099	38159099	+	synonymous_variant	Silent	SNP	T	T	C	rs928178784	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	113	0	ENST00000308059.6:c.4482T>C	p.Ser1494=	p.S1494=	ENST00000308059		1494	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2672.2	4482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTGGGGT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,synonymous_variant,p.%3D,ENST00000308059,;DLEC1,synonymous_variant,p.%3D,ENST00000346219,;DLEC1,synonymous_variant,p.%3D,ENST00000452631,;ACAA1,intron_variant,,ENST00000451419,;DLEC1,non_coding_transcript_exon_variant,,ENST00000478428,;	4503	113	115	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	48	144	0	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS2694.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCATTCTG	SITE|p.H36P|c.107A>C|34,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.H36Y|c.106C>T|5,CODON|p.H36R|c.107A>G|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5678,COSM27378	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.397)	.	deleterious(0.04)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	387	144	163	SUCCESS
PCDH18	54510	.	GRCh37	4	138452132	138452132	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	72	192	0	ENST00000344876.4:c.1111G>A	p.Glu371Lys	p.E371K	ENST00000344876	NM_019035.3	371	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34064.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCAAAAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Glu371Lys,ENST00000344876,;PCDH18,missense_variant,p.Glu151Lys,ENST00000507846,;PCDH18,missense_variant,p.Glu371Lys,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	1498	192	226	SUCCESS
CCRN4L	0	.	GRCh37	4	139965849	139965849	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	36	151	0	ENST00000280614.2:c.517G>A	p.Glu173Lys	p.E173K	ENST00000280614	NM_012118.3	173	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3743.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGAAGAA	NONE	.	.	hmmpanther:PTHR12121:SF32,hmmpanther:PTHR12121,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219	.	.	ENSP00000280614	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000280614	Transcript	.	.	ENSG00000151014	14254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.25)	.	NOCT_HUMAN	CCRN4L	HGNC	.	.	UPI000013DC2C	SNV	CCRN4L,missense_variant,p.Glu173Lys,ENST00000280614,;ELF2,intron_variant,,ENST00000515489,;CCRN4L,non_coding_transcript_exon_variant,,ENST00000515616,;	710	151	136	SUCCESS
EVC2	132884	.	GRCh37	4	5664973	5664973	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs761732269	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	80	0	ENST00000344408.5:c.1006G>A	p.Val336Ile	p.V336I	ENST00000344408	NM_147127.4	336	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS3382.2	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACCTTCA	NONE	byFrequency	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	9/22	.	.	.	.	.	.	.	.	rs761732269	9/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.44)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Val336Ile,ENST00000344938,;EVC2,missense_variant,p.Val256Ile,ENST00000310917,;EVC2,missense_variant,p.Val336Ile,ENST00000344408,;EVC2,missense_variant,p.Val256Ile,ENST00000475313,;EVC2,missense_variant,p.Val256Ile,ENST00000509670,;	1060	80	73	SUCCESS
REST	5978	.	GRCh37	4	57797002	57797002	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	34	100	0	ENST00000309042.7:c.1978G>A	p.Gly660Arg	p.G660R	ENST00000309042	NM_005612.4	660	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS3509.1	1978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGGCCT	NONE	.	.	.	.	.	ENSP00000311816	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309042	Transcript	.	.	ENSG00000084093	9966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious_low_confidence(0.05)	.	REST_HUMAN	REST	HGNC	.	.	UPI000013FBF6	SNV	REST,missense_variant,p.Gly660Arg,ENST00000309042,;REST,downstream_gene_variant,,ENST00000514063,;	2292	100	107	SUCCESS
ALDH7A1	501	.	GRCh37	5	125918580	125918580	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	158	249	0	ENST00000409134.3:c.480A>G	p.Leu160=	p.L160=	ENST00000409134	NM_001201377.1	160	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4137.2	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATAAACC	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF144,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720	.	.	ENSP00000387123	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000409134	Transcript	1	.	ENSG00000164904	877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL7A1_HUMAN	ALDH7A1	HGNC	.	.	UPI0000D4C5DE	SNV	ALDH7A1,synonymous_variant,p.%3D,ENST00000553117,;ALDH7A1,synonymous_variant,p.%3D,ENST00000510111,;ALDH7A1,synonymous_variant,p.%3D,ENST00000409134,;ALDH7A1,synonymous_variant,p.%3D,ENST00000509270,;ALDH7A1,synonymous_variant,p.%3D,ENST00000447989,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000413020,;ALDH7A1,intron_variant,,ENST00000503281,;ALDH7A1,intron_variant,,ENST00000511266,;ALDH7A1,intron_variant,,ENST00000509459,;ALDH7A1,downstream_gene_variant,,ENST00000479989,;ALDH7A1,upstream_gene_variant,,ENST00000433026,;ALDH7A1,3_prime_UTR_variant,,ENST00000458249,;ALDH7A1,downstream_gene_variant,,ENST00000412186,;	700	249	302	SUCCESS
POM121L2	94026	.	GRCh37	6	27279335	27279335	+	synonymous_variant	Silent	SNP	G	G	A	rs149082261	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	38	36	0	ENST00000444565.1:c.615C>T	p.Leu205=	p.L205=	ENST00000444565	NM_033482.3	205	ctC/ctT	0	T:0.0022	T:0.003	.	T:0	.	A	L	protein_coding	YES	CCDS59497.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGAGGGT	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	T:0	T:0	ENSP00000392726	T:0	1/1	.	.	.	.	.	.	.	.	rs149082261	1/1	PASS	ENST00000444565	Transcript	.	T:0.0008	ENSG00000158553	13973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,synonymous_variant,p.%3D,ENST00000444565,;POM121L2,synonymous_variant,p.%3D,ENST00000377451,;POM121L2,upstream_gene_variant,,ENST00000429945,;	615	36	64	SUCCESS
RIMS1	22999	.	GRCh37	6	72806711	72806711	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777907746	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	60	189	0	ENST00000521978.1:c.305C>A	p.Ala102Glu	p.A102E	ENST00000521978	NM_014989.5	102	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS47449.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCGCGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19,Gene3D:3.30.40.10,Pfam_domain:PF02318	.	.	ENSP00000428417	.	3/34	.	.	.	.	.	.	.	.	rs777907746,COSM1081350	3/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.343)	.	deleterious(0)	0,1	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Ala102Glu,ENST00000518273,;RIMS1,missense_variant,p.Ala102Glu,ENST00000491071,;RIMS1,missense_variant,p.Ala102Glu,ENST00000517960,;RIMS1,missense_variant,p.Ala102Glu,ENST00000522291,;RIMS1,missense_variant,p.Ala102Glu,ENST00000264839,;RIMS1,missense_variant,p.Ala102Glu,ENST00000348717,;RIMS1,missense_variant,p.Ala102Glu,ENST00000520567,;RIMS1,missense_variant,p.Ala102Glu,ENST00000521978,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	305	189	112	SUCCESS
COL12A1	1303	.	GRCh37	6	75904605	75904605	+	synonymous_variant	Silent	SNP	T	T	C	rs201454637	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	30	65	0	ENST00000322507.8:c.132A>G	p.Ser44=	p.S44=	ENST00000322507	NM_004370.5	44	tcA/tcG	0	C:0	.	.	.	.	C	S	protein_coding	YES	CCDS43482.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCATGACAT	NONE	byCluster	.	PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	C:0.0009	ENSP00000325146	.	3/66	.	.	.	.	.	.	.	.	rs201454637	3/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;	442	65	57	SUCCESS
SENP6	26054	.	GRCh37	6	76386826	76386867	+	protein_altering_variant	In_Frame_Del	DEL	AATGAAATTGGTATAAAGAATAACATCTCCAATTTTTTTGCG	AATGAAATTGGTATAAAGAATAACATCTCCAATTTTTTTGCG	TGC	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	AATGAAATTGGTATAAAGAATAACATCTCCAATTTTTTTGCG	AATGAAATTGGTATAAAGAATAACATCTCCAATTTTTTTGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	209	107	602	0	ENST00000447266.2:c.1702_1743delinsTGC	p.Asn568_Ala581delinsCys	p.N568_A581delinsC	ENST00000447266	NM_015571.2	568	AATGAAATTGGTATAAAGAATAACATCTCCAATTTTTTTGCG/TGC	0	.	.	.	.	.	TGC	NEIGIKNNISNFFA/C	protein_coding	YES	CCDS47454.1	1702-1743	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCATTAATGAAATTGGTATAAAGAATAACATCTCCAATTTTTTTGCGAAAAT	NONE	.	.	hmmpanther:PTHR12438:SF14,hmmpanther:PTHR12438	.	.	ENSP00000402527	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000447266	Transcript	.	.	ENSG00000112701	20944	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SENP6_HUMAN	SENP6	HGNC	H0Y4F4_HUMAN	.	UPI0000141B65	substitution	SENP6,protein_altering_variant,p.Asn164_Ala177delinsCys,ENST00000541192,;SENP6,protein_altering_variant,p.Asn458_Ala471delinsCys,ENST00000424947,;SENP6,protein_altering_variant,p.Asn561_Ala574delinsCys,ENST00000327284,;SENP6,protein_altering_variant,p.Asn561_Ala574delinsCys,ENST00000370010,;SENP6,protein_altering_variant,p.Asn568_Ala581delinsCys,ENST00000370014,;SENP6,protein_altering_variant,p.Asn568_Ala581delinsCys,ENST00000447266,;SENP6,protein_altering_variant,p.Asn184_Ala197delinsCys,ENST00000503501,;SENP6,non_coding_transcript_exon_variant,,ENST00000476060,;SENP6,upstream_gene_variant,,ENST00000474906,;	2180-2221	602	316	SUCCESS
PHIP	55023	.	GRCh37	6	79664528	79664529	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	51	0	ENST00000275034.4:c.4053+2dup		p.X1351_splice	ENST00000275034	NM_017934.5	1351		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4987.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACTTACTGG	NONE	.	.	.	.	.	ENSP00000275034	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	LOW	35/39	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	insertion	PHIP,splice_region_variant,,ENST00000275034,;PHIP,splice_region_variant,,ENST00000479165,;	.	51	44	SUCCESS
ACHE	43	.	GRCh37	7	100491063	100491063	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764412723	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	33	0	ENST00000241069.5:c.791A>T	p.Asn264Ile	p.N264I	ENST00000241069	NM_000665.3	264	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS5710.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCATTGGGG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF171,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000303211	.	2/5	.	.	.	.	.	.	.	.	rs764412723	2/5	PASS	ENST00000302913	Transcript	.	.	ENSG00000087085	108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ACES_HUMAN	ACHE	HGNC	C9JUK5_HUMAN,C9JD78_HUMAN	.	UPI0000140DF0	SNV	ACHE,missense_variant,p.Asn264Ile,ENST00000241069,;ACHE,missense_variant,p.Asn264Ile,ENST00000419336,;ACHE,missense_variant,p.Asn264Ile,ENST00000428317,;ACHE,missense_variant,p.Asn264Ile,ENST00000426415,;ACHE,missense_variant,p.Asn264Ile,ENST00000411582,;ACHE,missense_variant,p.Asn264Ile,ENST00000430554,;ACHE,missense_variant,p.Asn264Ile,ENST00000412389,;ACHE,missense_variant,p.Asn264Ile,ENST00000302913,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000388793,;SRRT,downstream_gene_variant,,ENST00000457580,;SRRT,downstream_gene_variant,,ENST00000347433,;SRRT,downstream_gene_variant,,ENST00000432932,;UFSP1,upstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,downstream_gene_variant,,ENST00000497647,;ACHE,missense_variant,p.Asn264Ile,ENST00000454485,;ACHE,missense_variant,p.Asn264Ile,ENST00000440755,;ACHE,3_prime_UTR_variant,,ENST00000442452,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000477529,;	930	33	53	SUCCESS
SLC13A4	26266	.	GRCh37	7	135370360	135370360	+	synonymous_variant	Silent	SNP	G	G	C	rs772841017	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	29	97	0	ENST00000354042.4:c.1515C>G	p.Thr505=	p.T505=	ENST00000354042	NM_012450.2	505	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS5840.1	1515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGGTGAC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	.	.	ENSP00000297282	.	14/16	.	.	.	.	.	.	.	.	rs772841017	14/16	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,synonymous_variant,p.%3D,ENST00000354042,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000491630,;C7orf73,intron_variant,,ENST00000509448,;C7orf73,intron_variant,,ENST00000422968,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;	2205	97	124	SUCCESS
ZNF282	8427	.	GRCh37	7	148892729	148892729	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	67	111	0	ENST00000262085.3:c.48G>A	p.Gln16=	p.Q16=	ENST00000262085	NM_003575.2	16	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS5895.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAGGGCCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000262085	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000262085	Transcript	.	.	ENSG00000170265	13076	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN282_HUMAN	ZNF282	HGNC	Q86YG2_HUMAN	.	UPI000013D255	SNV	ZNF282,synonymous_variant,p.%3D,ENST00000479907,;ZNF282,synonymous_variant,p.%3D,ENST00000262085,;RP4-800G7.1,upstream_gene_variant,,ENST00000461005,;	153	111	141	SUCCESS
ASIC3	9311	.	GRCh37	7	150745974	150745974	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs143427620	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	13	75	0	ENST00000349064.5:c.2T>C	p.Met1?	p.M1?	ENST00000349064	NM_004769.3	1	aTg/aCg	0	C:0	.	.	.	.	C	M/T	protein_coding	YES	CCDS5915.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCATGAAGC	NONE	byCluster	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF14	.	C:0.0003	ENSP00000297512	.	1/11	.	.	.	.	.	.	.	.	rs143427620	1/11	PASS	ENST00000297512	Transcript	.	.	ENSG00000213199	101	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0)	.	ASIC3_HUMAN	ASIC3	HGNC	.	.	UPI00000300F6	SNV	ASIC3,start_lost,p.Met1?,ENST00000349064,;ASIC3,start_lost,p.Met1?,ENST00000357922,;ASIC3,start_lost,p.Met1?,ENST00000297512,;ABCB8,downstream_gene_variant,,ENST00000356058,;ABCB8,downstream_gene_variant,,ENST00000297504,;CDK5,downstream_gene_variant,,ENST00000485972,;ABCB8,downstream_gene_variant,,ENST00000498578,;ABCB8,downstream_gene_variant,,ENST00000358849,;ASIC3,upstream_gene_variant,,ENST00000490540,;ABCB8,downstream_gene_variant,,ENST00000542328,;ASIC3,upstream_gene_variant,,ENST00000485929,;ASIC3,start_lost,p.Met1?,ENST00000377904,;ASIC3,start_lost,p.Met1?,ENST00000468325,;ASIC3,upstream_gene_variant,,ENST00000498105,;ABCB8,downstream_gene_variant,,ENST00000482309,;ABCB8,downstream_gene_variant,,ENST00000466514,;ASIC3,upstream_gene_variant,,ENST00000474135,;ABCB8,downstream_gene_variant,,ENST00000482899,;	2	75	89	SUCCESS
WDR60	0	.	GRCh37	7	158705686	158705686	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	77	127	0	ENST00000407559.3:c.1601A>T	p.Gln534Leu	p.Q534L	ENST00000407559	NM_018051.4	534	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47757.1	1601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCAGTGTA	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30	.	.	ENSP00000384290	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,missense_variant,p.Gln534Leu,ENST00000407559,;WDR60,missense_variant,p.Gln311Leu,ENST00000444851,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;	1759	127	178	SUCCESS
NOD1	10392	.	GRCh37	7	30492539	30492539	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780460320	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	62	0	ENST00000222823.4:c.494A>G	p.Glu165Gly	p.E165G	ENST00000222823	NM_006092.2	165	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5427.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTCCATG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF18	.	.	ENSP00000222823	.	6/14	.	.	.	.	.	.	.	.	rs780460320	6/14	PASS	ENST00000222823	Transcript	.	.	ENSG00000106100	16390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOD1_HUMAN	NOD1	HGNC	Q7Z2K1_HUMAN,C9J8X8_HUMAN	.	UPI00000375EE	SNV	NOD1,missense_variant,p.Glu165Gly,ENST00000222823,;NOD1,missense_variant,p.Glu165Gly,ENST00000423334,;NOD1,downstream_gene_variant,,ENST00000419601,;NOD1,downstream_gene_variant,,ENST00000413433,;NOD1,downstream_gene_variant,,ENST00000419799,;NOD1,downstream_gene_variant,,ENST00000411552,;NOD1,missense_variant,p.Glu165Gly,ENST00000434755,;NOD1,upstream_gene_variant,,ENST00000489614,;	1020	62	64	SUCCESS
SEMA3D	223117	.	GRCh37	7	84694822	84694822	+	synonymous_variant	Silent	SNP	A	A	G	rs776327910	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	9	147	0	ENST00000284136.6:c.636T>C	p.Asp212=	p.D212=	ENST00000284136	NM_152754.2	212	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS34676.1	636	MUTECT|MUSE	.	GCAGTATCTTT	NONE	byFrequency	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	.	ENSP00000284136	.	6/17	.	.	.	.	.	.	.	.	rs776327910,COSM1132931	6/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,synonymous_variant,p.%3D,ENST00000284136,;SEMA3D,synonymous_variant,p.%3D,ENST00000444867,;	680	147	232	SUCCESS
SNX31	169166	.	GRCh37	8	101612592	101612592	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	51	96	0	ENST00000311812.2:c.759A>G	p.Glu253=	p.E253=	ENST00000311812	NM_152628.3	253	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS6288.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCTTCTTT	NONE	.	.	hmmpanther:PTHR12431:SF15,hmmpanther:PTHR12431	.	.	ENSP00000312368	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000311812	Transcript	.	.	ENSG00000174226	28605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX31_HUMAN	SNX31	HGNC	E5RJK2_HUMAN	.	UPI000004A790	SNV	SNX31,synonymous_variant,p.%3D,ENST00000428383,;SNX31,synonymous_variant,p.%3D,ENST00000311812,;SNX31,upstream_gene_variant,,ENST00000519521,;	910	96	201	SUCCESS
YWHAZ	7534	.	GRCh37	8	101965201	101965201	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	79	78	0	ENST00000353245.3:c.-12+296G>A		p.*4*	ENST00000353245	NM_003406.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6290.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCGGTGA	NONE	.	.	.	.	.	ENSP00000379287	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000395957	Transcript	.	.	ENSG00000164924	12855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	1433Z_HUMAN	YWHAZ	HGNC	Q6LD62_HUMAN,Q2F831_HUMAN,H0YB80_HUMAN,E9PD24_HUMAN,E7EVZ2_HUMAN,E7ESK7_HUMAN,E5RIR4_HUMAN,E5RGE1_HUMAN,D0PNI1_HUMAN,B7Z2E6_HUMAN,B0AZS6_HUMAN	.	UPI000003300D	SNV	YWHAZ,5_prime_UTR_variant,,ENST00000395957,;YWHAZ,5_prime_UTR_variant,,ENST00000395948,;YWHAZ,5_prime_UTR_variant,,ENST00000457309,;YWHAZ,intron_variant,,ENST00000353245,;YWHAZ,upstream_gene_variant,,ENST00000437293,;YWHAZ,upstream_gene_variant,,ENST00000419477,;YWHAZ,upstream_gene_variant,,ENST00000523938,;YWHAZ,upstream_gene_variant,,ENST00000521309,;YWHAZ,upstream_gene_variant,,ENST00000521328,;YWHAZ,upstream_gene_variant,,ENST00000523131,;YWHAZ,upstream_gene_variant,,ENST00000395951,;YWHAZ,upstream_gene_variant,,ENST00000395958,;YWHAZ,upstream_gene_variant,,ENST00000418997,;YWHAZ,upstream_gene_variant,,ENST00000521607,;YWHAZ,upstream_gene_variant,,ENST00000395956,;YWHAZ,upstream_gene_variant,,ENST00000395953,;YWHAZ,upstream_gene_variant,,ENST00000522542,;RN7SL685P,upstream_gene_variant,,ENST00000476271,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000492736,;YWHAZ,upstream_gene_variant,,ENST00000518736,;YWHAZ,upstream_gene_variant,,ENST00000517727,;YWHAZ,upstream_gene_variant,,ENST00000480304,;	11	78	231	SUCCESS
NCOA2	10499	.	GRCh37	8	71033566	71033566	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs61754973	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	233	89	132	0	ENST00000452400.2:c.4354A>G	p.Met1452Val	p.M1452V	ENST00000452400	NM_006540.2	1452	Atg/Gtg	0	C:0	C:0	.	C:0	.	C	M/V	protein_coding	YES	CCDS47872.1	4354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCATATCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	C:0	C:0.001	ENSP00000399968	C:0.001	22/23	.	.	.	.	.	.	.	.	rs61754973	22/23	common_in_exac	ENST00000452400	Transcript	.	C:0.0002	ENSG00000140396	7669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	C:0	deleterious_low_confidence(0.01)	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,missense_variant,p.Met540Val,ENST00000267974,;NCOA2,missense_variant,p.Met1452Val,ENST00000452400,;NCOA2,missense_variant,p.Met578Val,ENST00000518363,;NCOA2,intron_variant,,ENST00000518287,;	4536	132	323	SUCCESS
KCNB2	9312	.	GRCh37	8	73479945	73479945	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs201897595	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	41	0	ENST00000523207.1:c.-25G>A		p.*9*	ENST00000523207	NM_004770.2			0	C:0.0002	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS6209.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGCTCTG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0.0013	ENSP00000430846	C:0.002	2/3	.	.	.	.	.	.	.	.	rs201897595	2/3	PASS	ENST00000523207	Transcript	.	C:0.0004	ENSG00000182674	6232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,5_prime_UTR_variant,,ENST00000523207,;	564	41	68	SUCCESS
STAU2	27067	.	GRCh37	8	74464065	74464065	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	14	0	ENST00000524300.1:c.1530+182A>G		p.*510*	ENST00000524300	NM_001164381.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55247.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATAAGAG	NONE	.	.	.	.	.	ENSP00000428756	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000524300	Transcript	.	.	ENSG00000040341	11371	.	.	MODIFIER	13/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	STAU2	HGNC	E5RJN7_HUMAN	.	UPI000013D271	SNV	STAU2,3_prime_UTR_variant,,ENST00000521451,;STAU2,3_prime_UTR_variant,,ENST00000355780,;STAU2,3_prime_UTR_variant,,ENST00000522509,;STAU2,3_prime_UTR_variant,,ENST00000517542,;STAU2,3_prime_UTR_variant,,ENST00000519961,;STAU2,3_prime_UTR_variant,,ENST00000521727,;STAU2,intron_variant,,ENST00000522695,;STAU2,intron_variant,,ENST00000524300,;STAU2,intron_variant,,ENST00000523558,;STAU2,intron_variant,,ENST00000521210,;STAU2,intron_variant,,ENST00000523533,;STAU2,downstream_gene_variant,,ENST00000518502,;STAU2,downstream_gene_variant,,ENST00000518767,;STAU2,downstream_gene_variant,,ENST00000518981,;	.	14	54	SUCCESS
FAM92A1	0	.	GRCh37	8	94730901	94730901	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	75	93	0	ENST00000518322.1:c.544-2A>G		p.X182_splice	ENST00000518322	NM_145269.3	182		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47892.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAGACTA	NONE	.	.	.	.	.	ENSP00000429367	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000518322	Transcript	.	.	ENSG00000188343	30452	.	.	HIGH	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F92A1_HUMAN	FAM92A1	HGNC	E5RID3_HUMAN,E5RHA4_HUMAN,E5RGE3_HUMAN,E5RFS7_HUMAN,E5RFH7_HUMAN	.	UPI000156FA8B	SNV	FAM92A1,splice_acceptor_variant,,ENST00000519679,;FAM92A1,splice_acceptor_variant,,ENST00000521641,;FAM92A1,splice_acceptor_variant,,ENST00000518322,;FAM92A1,splice_acceptor_variant,,ENST00000517718,;FAM92A1,intron_variant,,ENST00000423990,;CTD-2006H14.2,upstream_gene_variant,,ENST00000607706,;RP11-10N23.2,upstream_gene_variant,,ENST00000520562,;FAM92A1,splice_acceptor_variant,,ENST00000518116,;FAM92A1,splice_acceptor_variant,,ENST00000359421,;FAM92A1,splice_acceptor_variant,,ENST00000452913,;FAM92A1,splice_acceptor_variant,,ENST00000523577,;	.	93	233	SUCCESS
RAD54B	25788	.	GRCh37	8	95390434	95390434	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	315	198	213	1	ENST00000336148.5:c.2489A>T	p.Glu830Val	p.E830V	ENST00000336148	NM_012415.3	830	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6262.1	2489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACTCACAG	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568	.	.	ENSP00000336606	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000336148	Transcript	.	.	ENSG00000197275	17228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.17)	.	RA54B_HUMAN	RAD54B	HGNC	E5RHN9_HUMAN	.	UPI0000070088	SNV	RAD54B,missense_variant,p.Glu830Val,ENST00000336148,;RAD54B,downstream_gene_variant,,ENST00000518358,;FSBP,downstream_gene_variant,,ENST00000517506,;	2614	214	513	SUCCESS
WDR38	401551	.	GRCh37	9	127615862	127615862	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	75	2	ENST00000373574.1:c.52G>A	p.Gly18Ser	p.G18S	ENST00000373574	NM_001045476.2	18	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43876.1	52	SOMATICSNIPER|VARSCANS	.	TCTTCGGCCAG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362677	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000373574	Transcript	.	.	ENSG00000136918	23745	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.72)	.	WDR38_HUMAN	WDR38	HGNC	.	.	UPI00004A0D82	SNV	WDR38,missense_variant,p.Gly18Ser,ENST00000373574,;RPL35,downstream_gene_variant,,ENST00000348462,;RPL35,downstream_gene_variant,,ENST00000373570,;RPL35,downstream_gene_variant,,ENST00000493018,;RPL35,downstream_gene_variant,,ENST00000487431,;	108	77	73	SUCCESS
DOCK8	81704	.	GRCh37	9	434955	434955	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767895149	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	46	0	ENST00000432829.2:c.4855G>A	p.Val1619Met	p.V1619M	ENST00000432829	NM_203447.3	1619	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS6440.2	5059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGTGGGC	NONE	byFrequency	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74	.	.	ENSP00000408464	.	39/48	.	.	.	.	.	.	.	.	rs767895149	39/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Val1619Met,ENST00000432829,;DOCK8,missense_variant,p.Val1687Met,ENST00000453981,;DOCK8,missense_variant,p.Val1587Met,ENST00000469391,;DOCK8,missense_variant,p.Val1154Met,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	5171	46	40	SUCCESS
DRP2	1821	.	GRCh37	X	100507604	100507604	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	148	158	1	ENST00000395209.3:c.1876C>T	p.Leu626=	p.L626=	ENST00000395209	NM_001939.2	626	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14480.2	1876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCTGAAG	NONE	.	.	PROSITE_profiles:PS50135,hmmpanther:PTHR11915,PROSITE_patterns:PS01357,Pfam_domain:PF00569,SMART_domains:SM00291,PIRSF_domain:PIRSF038205,Superfamily_domains:SSF57850	.	.	ENSP00000378635	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000395209	Transcript	.	.	ENSG00000102385	3032	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRP2_HUMAN	DRP2	HGNC	.	.	UPI000013D388	SNV	DRP2,synonymous_variant,p.%3D,ENST00000538510,;DRP2,synonymous_variant,p.%3D,ENST00000402866,;DRP2,synonymous_variant,p.%3D,ENST00000541709,;DRP2,synonymous_variant,p.%3D,ENST00000395209,;DRP2,downstream_gene_variant,,ENST00000372916,;	2403	159	210	SUCCESS
USP9X	8239	.	GRCh37	X	41048571	41048571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	10	109	0	ENST00000324545.8:c.3820G>A	p.Gly1274Ser	p.G1274S	ENST00000324545	NM_001039590.2	1274	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43930.1	3820	MUTECT|MUSE	.	ATGCAGGCAAT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359	.	.	ENSP00000316357	.	26/45	.	.	.	.	.	.	.	.	.	26/45	PASS	ENST00000324545	Transcript	.	.	ENSG00000124486	12632	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.85)	.	USP9X_HUMAN	USP9X	HGNC	.	.	UPI00001AF419	SNV	USP9X,missense_variant,p.Gly1274Ser,ENST00000378308,;USP9X,missense_variant,p.Gly1274Ser,ENST00000324545,;USP9X,non_coding_transcript_exon_variant,,ENST00000463829,;USP9X,downstream_gene_variant,,ENST00000465386,;	4453	109	214	SUCCESS
PROSER2	254427	.	GRCh37	10	11912120	11912120	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	9	0	ENST00000277570.5:c.1023G>A	p.Leu341=	p.L341=	ENST00000277570	NM_153256.3	341	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7085.1	1023	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCGCTGGCCAA	NONE	.	.	hmmpanther:PTHR16095,hmmpanther:PTHR16095:SF9	.	.	ENSP00000277570	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000277570	Transcript	.	.	ENSG00000148426	23728	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRSR2_HUMAN	PROSER2	HGNC	D3DRR9_HUMAN	.	UPI00001F8B49	SNV	PROSER2,synonymous_variant,p.%3D,ENST00000277570,;PROSER2,synonymous_variant,p.%3D,ENST00000379200,;PROSER2,downstream_gene_variant,,ENST00000444604,;PROSER2-AS1,intron_variant,,ENST00000453242,;PROSER2-AS1,intron_variant,,ENST00000445498,;PROSER2,downstream_gene_variant,,ENST00000474155,;	1177	9	23	SUCCESS
ECHS1	1892	.	GRCh37	10	135180466	135180466	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	52	0	ENST00000368547.3:c.546T>A	p.Ala182=	p.A182=	ENST00000368547	NM_004092.3	182	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7681.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACAGCACG	NONE	.	.	hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF24,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000357535	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000368547	Transcript	1	.	ENSG00000127884	3151	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ECHM_HUMAN	ECHS1	HGNC	.	.	UPI000013CC49	SNV	ECHS1,synonymous_variant,p.%3D,ENST00000368547,;MIR3944,downstream_gene_variant,,ENST00000581277,;	902	52	42	SUCCESS
CUBN	8029	.	GRCh37	10	17169878	17169878	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765554733	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	43	76	0	ENST00000377833.4:c.298A>G	p.Ile100Val	p.I100V	ENST00000377833	NM_001081.3	100	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7113.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAATTGCAC	NONE	.	.	.	.	.	ENSP00000367064	.	3/67	.	.	.	.	.	.	.	.	rs765554733	3/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.33)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ile100Val,ENST00000377823,;CUBN,missense_variant,p.Ile100Val,ENST00000377833,;CUBN,upstream_gene_variant,,ENST00000433666,;	364	76	77	SUCCESS
ZNF239	8187	.	GRCh37	10	44053561	44053561	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs774940275	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	93	0	ENST00000306006.6:c.-34A>T		p.*12*	ENST00000306006	NM_005674.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41502.1	.	MUTECT|MUSE	.	TCATGTAACAG	NONE	.	.	.	.	.	ENSP00000307774	.	2/2	.	.	.	.	.	.	.	.	rs774940275	2/2	PASS	ENST00000306006	Transcript	.	.	ENSG00000196793	13031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN239_HUMAN	ZNF239	HGNC	.	.	UPI000006DD0E	SNV	ZNF239,5_prime_UTR_variant,,ENST00000374446,;ZNF239,5_prime_UTR_variant,,ENST00000306006,;ZNF239,5_prime_UTR_variant,,ENST00000535642,;ZNF239,5_prime_UTR_variant,,ENST00000426961,;ZNF239,non_coding_transcript_exon_variant,,ENST00000491188,;	620	93	107	SUCCESS
REEP3	221035	.	GRCh37	10	65281215	65281215	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	30	0	ENST00000373758.4:c.-91G>C		p.*31*	ENST00000373758	NM_001001330.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44411.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGGAGCCGGC	NONE	.	.	.	.	.	ENSP00000362863	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000373758	Transcript	.	.	ENSG00000165476	23711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	REEP3_HUMAN	REEP3	HGNC	.	.	UPI00000373BA	SNV	REEP3,5_prime_UTR_variant,,ENST00000373758,;REEP3,5_prime_UTR_variant,,ENST00000298249,;	93	30	22	SUCCESS
HK1	3098	.	GRCh37	10	71158366	71158366	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	45	0	ENST00000359426.6:c.2391G>A	p.Leu797=	p.L797=	ENST00000359426	NM_000188.2	797	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7289.1	2403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGCTCCA	NONE	.	.	hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF10,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067	.	.	ENSP00000384774	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000404387	Transcript	1	.	ENSG00000156515	4922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXK1_HUMAN	HK1	HGNC	P78542_HUMAN,B1AR61_HUMAN	.	UPI000013E945	SNV	HK1,synonymous_variant,p.%3D,ENST00000298649,;HK1,synonymous_variant,p.%3D,ENST00000448642,;HK1,synonymous_variant,p.%3D,ENST00000359426,;HK1,synonymous_variant,p.%3D,ENST00000404387,;HK1,synonymous_variant,p.%3D,ENST00000360289,;HK1,intron_variant,,ENST00000470050,;	2403	45	50	SUCCESS
DRD2	1813	.	GRCh37	11	113281524	113281524	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs79932566	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	93	0	ENST00000362072.3:c.1257C>A	p.Ser419Arg	p.S419R	ENST00000362072	NM_000795.3	419	agC/agA	0	A:0.0002	.	.	.	.	T	S/R	protein_coding	YES	CCDS8361.1	1257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGCTGTT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0001	ENSP00000354859	.	8/8	.	.	.	.	.	.	.	.	rs79932566	8/8	PASS	ENST00000362072	Transcript	.	.	ENSG00000149295	3023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DRD2_HUMAN	DRD2	HGNC	Q6LDH7_HUMAN	.	UPI0000001315	SNV	DRD2,missense_variant,p.Ser419Arg,ENST00000542968,;DRD2,missense_variant,p.Ser418Arg,ENST00000544518,;DRD2,missense_variant,p.Ser419Arg,ENST00000362072,;DRD2,missense_variant,p.Ser421Arg,ENST00000355319,;DRD2,missense_variant,p.Ser390Arg,ENST00000346454,;DRD2,missense_variant,p.Ser421Arg,ENST00000538967,;RP11-159N11.3,intron_variant,,ENST00000546284,;DRD2,downstream_gene_variant,,ENST00000535984,;DRD2,downstream_gene_variant,,ENST00000539420,;DRD2,downstream_gene_variant,,ENST00000540600,;	1602	93	122	SUCCESS
GLYAT	10249	.	GRCh37	11	58477846	58477846	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	20	0	ENST00000344743.3:c.489-205C>T		p.*163*	ENST00000344743	NM_201648.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7970.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGTGGTA	NONE	.	.	.	.	.	ENSP00000340200	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344743	Transcript	.	.	ENSG00000149124	13734	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLYAT_HUMAN	GLYAT	HGNC	.	.	UPI00003667C7	SNV	GLYAT,3_prime_UTR_variant,,ENST00000278400,;GLYAT,intron_variant,,ENST00000529732,;GLYAT,intron_variant,,ENST00000586098,;GLYAT,intron_variant,,ENST00000344743,;	.	20	19	SUCCESS
MRPL49	740	.	GRCh37	11	64893195	64893195	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	61	176	0	ENST00000279242.2:c.355-3C>T		p.X119_splice	ENST00000279242	NM_004927.3	119		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8096.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCAGGCC	NONE	.	.	.	.	.	ENSP00000279242	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000279242	Transcript	.	.	ENSG00000149792	1176	.	.	LOW	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RM49_HUMAN	MRPL49	HGNC	.	.	UPI000000122A	SNV	MRPL49,splice_region_variant,,ENST00000534078,;MRPL49,splice_region_variant,,ENST00000279242,;MRPL49,splice_region_variant,,ENST00000533943,;MRPL49,3_prime_UTR_variant,,ENST00000526171,;MRPL49,intron_variant,,ENST00000531705,;FAU,upstream_gene_variant,,ENST00000279259,;FAU,upstream_gene_variant,,ENST00000525297,;SYVN1,downstream_gene_variant,,ENST00000307289,;FAU,upstream_gene_variant,,ENST00000526555,;FAU,upstream_gene_variant,,ENST00000529259,;FAU,upstream_gene_variant,,ENST00000434372,;SYVN1,downstream_gene_variant,,ENST00000294256,;FAU,upstream_gene_variant,,ENST00000529639,;SYVN1,downstream_gene_variant,,ENST00000377190,;SYVN1,downstream_gene_variant,,ENST00000526060,;FAU,upstream_gene_variant,,ENST00000527548,;FAU,upstream_gene_variant,,ENST00000531743,;MRPL49,splice_region_variant,,ENST00000524482,;MRPL49,splice_region_variant,,ENST00000528529,;SYVN1,downstream_gene_variant,,ENST00000527765,;MRPL49,splice_region_variant,,ENST00000526319,;MRPL49,splice_region_variant,,ENST00000532671,;SYVN1,intron_variant,,ENST00000530451,;FAU,upstream_gene_variant,,ENST00000531357,;SYVN1,downstream_gene_variant,,ENST00000449943,;	.	176	214	SUCCESS
ERP29	10961	.	GRCh37	12	112451198	112451198	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	21	0	ENST00000261735.3:c.-72A>C		p.*24*	ENST00000261735	NM_006817.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9158.1	.	MUTECT|MUSE	.	CCCCCAGTCAC	NONE	.	.	.	.	.	ENSP00000261735	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000261735	Transcript	.	.	ENSG00000089248	13799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERP29_HUMAN	ERP29	HGNC	F8VY02_HUMAN	.	UPI000012A0D9	SNV	ERP29,5_prime_UTR_variant,,ENST00000455836,;ERP29,5_prime_UTR_variant,,ENST00000261735,;TMEM116,upstream_gene_variant,,ENST00000552374,;TMEM116,upstream_gene_variant,,ENST00000549537,;ERP29,upstream_gene_variant,,ENST00000552052,;TMEM116,upstream_gene_variant,,ENST00000355445,;TMEM116,upstream_gene_variant,,ENST00000550831,;TMEM116,upstream_gene_variant,,ENST00000437003,;TMEM116,upstream_gene_variant,,ENST00000354825,;TMEM116,upstream_gene_variant,,ENST00000552839,;TMEM116,upstream_gene_variant,,ENST00000552800,;TMEM116,upstream_gene_variant,,ENST00000547878,;TMEM116,upstream_gene_variant,,ENST00000546537,;TMEM116,upstream_gene_variant,,ENST00000548283,;TMEM116,upstream_gene_variant,,ENST00000551297,;TMEM116,upstream_gene_variant,,ENST00000550020,;TMEM116,upstream_gene_variant,,ENST00000552801,;ERP29,upstream_gene_variant,,ENST00000553161,;	79	21	15	SUCCESS
PITPNM2	57605	.	GRCh37	12	123475098	123475098	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1406337308	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	39	0	ENST00000320201.4:c.2563G>A	p.Ala855Thr	p.A855T	ENST00000320201	NM_020845.2	855	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9242.1	2563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGATGC	NONE	.	.	Pfam_domain:PF02862,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41,PROSITE_profiles:PS51043	.	.	ENSP00000322218	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000320201	Transcript	.	.	ENSG00000090975	21044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	PITM2_HUMAN	PITPNM2	HGNC	Q9UF51_HUMAN,F5H664_HUMAN	.	UPI0000070D27	SNV	PITPNM2,missense_variant,p.Ala855Thr,ENST00000542749,;PITPNM2,missense_variant,p.Ala903Thr,ENST00000280562,;PITPNM2,missense_variant,p.Ala576Thr,ENST00000392428,;PITPNM2,missense_variant,p.Ala855Thr,ENST00000320201,;	2702	39	21	SUCCESS
SLC4A8	9498	.	GRCh37	12	51857460	51857460	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	139	0	ENST00000453097.2:c.1311T>A	p.His437Gln	p.H437Q	ENST00000453097	NM_001039960.2	437	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS44890.1	1311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGGGGG	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,TIGRFAM_domain:TIGR00834	.	.	ENSP00000405812	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	tolerated(0.41)	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,missense_variant,p.His384Gln,ENST00000394856,;SLC4A8,missense_variant,p.His437Gln,ENST00000453097,;SLC4A8,missense_variant,p.His384Gln,ENST00000535225,;SLC4A8,missense_variant,p.His464Gln,ENST00000358657,;SLC4A8,missense_variant,p.His384Gln,ENST00000514353,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000550211,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,downstream_gene_variant,,ENST00000547697,;	1528	139	76	SUCCESS
SLC26A10	65012	.	GRCh37	12	58019464	58019464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	35	0	ENST00000320442.4:c.1628G>T	p.Gly543Val	p.G543V	ENST00000320442	NM_133489.2	543	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS8949.2	1628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11814:SF57,hmmpanther:PTHR11814	.	.	ENSP00000320217	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000320442	Transcript	.	.	ENSG00000135502	14470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.05)	.	S2610_HUMAN	SLC26A10	HGNC	.	.	UPI000007059E	SNV	SLC26A10,missense_variant,p.Gly543Val,ENST00000320442,;SLC26A10,3_prime_UTR_variant,,ENST00000379218,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;B4GALNT1,downstream_gene_variant,,ENST00000341156,;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000550764,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;B4GALNT1,downstream_gene_variant,,ENST00000418555,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000483647,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000490243,;SLC26A10,3_prime_UTR_variant,,ENST00000440686,;SLC26A10,3_prime_UTR_variant,,ENST00000474359,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000487816,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;SLC26A10,downstream_gene_variant,,ENST00000497297,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;SLC26A10,downstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;	1939	35	38	SUCCESS
ZIC5	85416	.	GRCh37	13	100623989	100623989	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	40	63	0	ENST00000267294.4:c.-60C>A		p.*20*	ENST00000267294	NM_033132.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9494.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGTTCCC	NONE	.	.	.	.	.	ENSP00000267294	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000267294	Transcript	.	.	ENSG00000139800	20322	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZIC5_HUMAN	ZIC5	HGNC	.	.	UPI0000458928	SNV	ZIC5,5_prime_UTR_variant,,ENST00000267294,;	175	63	144	SUCCESS
COL4A1	1282	.	GRCh37	13	110822980	110822980	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	44	80	0	ENST00000375820.4:c.3656G>T	p.Gly1219Val	p.G1219V	ENST00000375820	NM_001845.4	1219	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9511.1	3656	RADIA|MUTECT|MUSE	.	GCTGTCCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391	.	.	ENSP00000364979	.	42/52	.	.	.	.	.	.	.	.	.	42/52	PASS	ENST00000375820	Transcript	.	.	ENSG00000187498	2202	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	.	.	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	SNV	COL4A1,missense_variant,p.Gly1219Val,ENST00000375820,;	3778	80	177	SUCCESS
SIAH3	283514	.	GRCh37	13	46425635	46425635	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760913115	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	76	124	1	ENST00000400405.2:c.130C>A	p.Leu44Ile	p.L44I	ENST00000400405	NM_198849.2	44	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS41883.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAGGTTGT	NONE	.	.	.	.	.	ENSP00000383256	.	1/2	.	.	.	.	.	.	.	.	rs760913115	1/2	PASS	ENST00000400405	Transcript	.	.	ENSG00000215475	30553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious_low_confidence(0.01)	.	SIAH3_HUMAN	SIAH3	HGNC	.	.	UPI00001C1F5A	SNV	SIAH3,missense_variant,p.Leu44Ile,ENST00000400405,;	237	125	140	SUCCESS
AHNAK2	113146	.	GRCh37	14	105415678	105415678	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	33	128	0	ENST00000333244.5:c.6110G>A	p.Ser2037Asn	p.S2037N	ENST00000333244	NM_138420.2	2037	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS45177.1	6110	RADIA|MUTECT|MUSE	.	GAATGCTGAGG	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Ser2037Asn,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	6230	128	118	SUCCESS
FOXG1	2290	.	GRCh37	14	29237416	29237416	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	85	0	ENST00000313071.4:c.931T>A	p.Ser311Thr	p.S311T	ENST00000313071	NM_005249.4	311	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS9636.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTCGCCC	NONE	.	.	hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	.	deleterious(0.03)	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Ser311Thr,ENST00000313071,;FOXG1,missense_variant,p.Ser311Thr,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	1300	85	49	SUCCESS
NID2	22795	.	GRCh37	14	52520493	52520493	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	144	0	ENST00000216286.5:c.1233A>G	p.Pro411=	p.P411=	ENST00000216286	NM_007361.3	411	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9706.1	1233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTGGGGT	NONE	.	.	.	.	.	ENSP00000216286	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,synonymous_variant,p.%3D,ENST00000541773,;NID2,synonymous_variant,p.%3D,ENST00000216286,;	1233	144	96	SUCCESS
UNC79	57578	.	GRCh37	14	94173074	94173074	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	118	0	ENST00000393151.2:c.7732C>T	p.Arg2578Cys	p.R2578C	ENST00000393151		2578	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS9911.2	7201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTCGCCTC	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	50/50	.	.	.	.	.	.	.	.	.	50/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Arg2578Cys,ENST00000393151,;UNC79,missense_variant,p.Arg2401Cys,ENST00000256339,;UNC79,missense_variant,p.Arg2600Cys,ENST00000553484,;UNC79,missense_variant,p.Arg2539Cys,ENST00000555664,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;	7856	118	85	SUCCESS
CHRNA7	1139	.	GRCh37	15	32323130	32323130	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199819119	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	49	71	0	ENST00000306901.3:c.85C>A	p.Leu29Ile	p.L29I	ENST00000306901	NM_000746.5	29	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS53924.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCTTTAC	NONE	.	.	Superfamily_domains:0038932,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	.	.	ENSP00000407546	.	2/10	.	.	.	.	.	.	.	.	rs199819119	2/10	PASS	ENST00000454250	Transcript	1	.	ENSG00000175344	1960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,missense_variant,p.Leu58Ile,ENST00000454250,;CHRNA7,missense_variant,p.Leu29Ile,ENST00000306901,;CHRNA7,5_prime_UTR_variant,,ENST00000455693,;CHRNA7,missense_variant,p.Leu29Ile,ENST00000437966,;	279	71	78	SUCCESS
TICRR	90381	.	GRCh37	15	90145127	90145127	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	95	0	ENST00000268138.7:c.2487A>G	p.Ser829=	p.S829=	ENST00000268138		829	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS10352.2	2487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCAAGTGC	NONE	.	.	Pfam_domain:PF15292,hmmpanther:PTHR21556	.	.	ENSP00000268138	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000268138	Transcript	.	.	ENSG00000140534	28704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICRR_HUMAN	TICRR	HGNC	.	.	UPI0000D61399	SNV	TICRR,synonymous_variant,p.%3D,ENST00000560985,;TICRR,synonymous_variant,p.%3D,ENST00000268138,;	2592	95	93	SUCCESS
SYNM	23336	.	GRCh37	15	99645637	99645637	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	34	0	ENST00000336292.6:c.232A>C	p.Thr78Pro	p.T78P	ENST00000336292	NM_145728.2	78	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	.	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACTGCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93,Pfam_domain:PF00038	.	.	ENSP00000336775	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000336292	Transcript	.	.	ENSG00000182253	24466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	SYNEM_HUMAN	SYNM	HGNC	.	.	UPI00001B03B3	SNV	SYNM,missense_variant,p.Thr78Pro,ENST00000328642,;SYNM,missense_variant,p.Thr78Pro,ENST00000336292,;SYNM,intron_variant,,ENST00000560674,;RP11-654A16.3,intron_variant,,ENST00000559468,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,non_coding_transcript_exon_variant,,ENST00000561306,;	352	34	30	SUCCESS
ABCC12	94160	.	GRCh37	16	48173219	48173219	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	44	155	0	ENST00000311303.3:c.686A>G	p.Tyr229Cys	p.Y229C	ENST00000311303	NM_033226.2	229	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10730.1	686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATAGCTA	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000311030	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000311303	Transcript	.	.	ENSG00000140798	14640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.16)	.	MRP9_HUMAN	ABCC12	HGNC	E9PHY2_HUMAN	.	UPI0000456987	SNV	ABCC12,missense_variant,p.Tyr229Cys,ENST00000416054,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000448542,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000311303,;ABCC12,downstream_gene_variant,,ENST00000527640,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000532494,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000529504,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000497206,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000533639,;ABCC12,missense_variant,p.Tyr229Cys,ENST00000529084,;ABCC12,non_coding_transcript_exon_variant,,ENST00000528693,;ABCC12,intron_variant,,ENST00000534418,;	1032	155	162	SUCCESS
MARVELD3	91862	.	GRCh37	16	71660319	71660319	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	48	234	0	ENST00000268485.3:c.187C>G	p.Gln63Glu	p.Q63E	ENST00000268485	NM_052858.5	63	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS32478.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21737:SF1,hmmpanther:PTHR21737	.	.	ENSP00000299952	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000299952	Transcript	.	.	ENSG00000140832	30525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.71)	.	MALD3_HUMAN	MARVELD3	HGNC	.	.	UPI000013E601	SNV	MARVELD3,missense_variant,p.Gln63Glu,ENST00000567566,;MARVELD3,missense_variant,p.Gln63Glu,ENST00000299952,;MARVELD3,missense_variant,p.Gln63Glu,ENST00000268485,;MARVELD3,missense_variant,p.Gln63Glu,ENST00000565261,;MARVELD3,upstream_gene_variant,,ENST00000567501,;RP11-432I5.2,intron_variant,,ENST00000562763,;	230	235	207	SUCCESS
KLHL10	317719	.	GRCh37	17	39998197	39998197	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1021250962	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	49	174	0	ENST00000293303.4:c.317C>T	p.Pro106Leu	p.P106L	ENST00000293303	NM_152467.3	106	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42340.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCGGACA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF165,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000293303	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000293303	Transcript	.	.	ENSG00000161594	18829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.3)	.	KLH10_HUMAN	KLHL10	HGNC	C9J999_HUMAN,B4DX37_HUMAN	.	UPI000013E0FA	SNV	KLHL10,missense_variant,p.Pro106Leu,ENST00000293303,;KLHL10,missense_variant,p.Pro100Leu,ENST00000438813,;KLHL10,missense_variant,p.Pro106Leu,ENST00000448203,;RN7SL871P,upstream_gene_variant,,ENST00000583512,;KLHL10,non_coding_transcript_exon_variant,,ENST00000485613,;	470	174	221	SUCCESS
DHX8	1659	.	GRCh37	17	41585264	41585264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	100	104	0	ENST00000262415.3:c.2197C>A	p.Pro733Thr	p.P733T	ENST00000262415	NM_004941.1	733	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS11464.1	2197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTCCCATT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF85,hmmpanther:PTHR18934,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000262415	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000262415	Transcript	.	.	ENSG00000067596	2749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0)	.	DHX8_HUMAN	DHX8	HGNC	.	.	UPI00001290D9	SNV	DHX8,missense_variant,p.Pro733Thr,ENST00000540306,;DHX8,missense_variant,p.Pro733Thr,ENST00000262415,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;	2269	104	160	SUCCESS
EFTUD2	9343	.	GRCh37	17	42956967	42956967	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765588398	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	64	106	0	ENST00000426333.2:c.659G>A	p.Arg220His	p.R220H	ENST00000426333	NM_001142605.1	220	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11489.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCGCAAG	NONE	byFrequency	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF5,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00009,Superfamily_domains:SSF52540,Prints_domain:PR00315	.	.	ENSP00000392094	.	9/28	.	.	.	.	.	.	.	.	rs765588398,COSM4066988	9/28	PASS	ENST00000426333	Transcript	.	.	ENSG00000108883	30858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	0,1	U5S1_HUMAN	EFTUD2	HGNC	K7EIV5_HUMAN,K7EIT3_HUMAN,B3KX19_HUMAN	.	UPI0000137931	SNV	EFTUD2,missense_variant,p.Arg185His,ENST00000402521,;EFTUD2,missense_variant,p.Arg220His,ENST00000591382,;EFTUD2,missense_variant,p.Arg220His,ENST00000426333,;EFTUD2,missense_variant,p.Arg210His,ENST00000592576,;EFTUD2,downstream_gene_variant,,ENST00000593072,;RN7SL405P,upstream_gene_variant,,ENST00000582502,;EFTUD2,3_prime_UTR_variant,,ENST00000588374,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000593200,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000589475,;EFTUD2,downstream_gene_variant,,ENST00000589825,;EFTUD2,downstream_gene_variant,,ENST00000586875,;EFTUD2,upstream_gene_variant,,ENST00000587957,;	957	106	99	SUCCESS
OSBPL7	114881	.	GRCh37	17	45886525	45886525	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376859496	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	49	68	0	ENST00000007414.3:c.2087G>T	p.Arg696Leu	p.R696L	ENST00000007414	NM_145798.2	696	cGt/cTt	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS11515.1	2087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACACGGCCA	NONE	byCluster	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972	.	T:0.0001	ENSP00000007414	.	20/23	.	.	.	.	.	.	.	.	rs376859496,COSM980520	20/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.133)	.	deleterious(0.01)	0,1	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Arg696Leu,ENST00000392507,;OSBPL7,missense_variant,p.Arg696Leu,ENST00000007414,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,upstream_gene_variant,,ENST00000578461,;	2279	68	82	SUCCESS
RSAD1	55316	.	GRCh37	17	48559662	48559662	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	76	111	0	ENST00000258955.2:c.685T>G	p.Ser229Ala	p.S229A	ENST00000258955	NM_018346.1	229	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS11569.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTCCCTG	NONE	.	.	hmmpanther:PTHR13932:SF5,hmmpanther:PTHR13932,TIGRFAM_domain:TIGR00539,Gene3D:2qgqB01,SMART_domains:SM00729,Superfamily_domains:SSF102114	.	.	ENSP00000258955	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000258955	Transcript	.	.	ENSG00000136444	25634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0)	.	RSAD1_HUMAN	RSAD1	HGNC	K7EKD3_HUMAN	.	UPI0000070E2E	SNV	RSAD1,missense_variant,p.Ser229Ala,ENST00000258955,;RSAD1,downstream_gene_variant,,ENST00000510554,;RSAD1,missense_variant,p.Ser69Ala,ENST00000506211,;RSAD1,missense_variant,p.Ser116Ala,ENST00000515221,;RSAD1,3_prime_UTR_variant,,ENST00000504284,;RSAD1,upstream_gene_variant,,ENST00000513650,;RSAD1,downstream_gene_variant,,ENST00000443328,;RSAD1,upstream_gene_variant,,ENST00000509398,;	770	111	131	SUCCESS
FTSJ3	117246	.	GRCh37	17	61904520	61904520	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	8	16	0	ENST00000427159.2:c.-135A>C		p.*45*	ENST00000427159	NM_017647.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11645.1	.	MUTECT|MUSE	.	GCCATTTTGAG	NONE	.	23	.	.	.	ENSP00000310572	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310144	Transcript	.	.	ENSG00000087191	9552	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRS8_HUMAN	PSMC5	HGNC	J3QSA9_HUMAN,J3QLH6_HUMAN,J3KRP2_HUMAN	.	UPI00000219DE	SNV	PSMC5,5_prime_UTR_variant,,ENST00000579708,;FTSJ3,5_prime_UTR_variant,,ENST00000581209,;FTSJ3,5_prime_UTR_variant,,ENST00000585145,;FTSJ3,5_prime_UTR_variant,,ENST00000427159,;FTSJ3,5_prime_UTR_variant,,ENST00000584574,;PSMC5,upstream_gene_variant,,ENST00000581882,;SMARCD2,downstream_gene_variant,,ENST00000448276,;PSMC5,upstream_gene_variant,,ENST00000375812,;PSMC5,upstream_gene_variant,,ENST00000585123,;FTSJ3,upstream_gene_variant,,ENST00000580272,;PSMC5,upstream_gene_variant,,ENST00000310144,;PSMC5,upstream_gene_variant,,ENST00000580864,;PSMC5,upstream_gene_variant,,ENST00000581842,;PSMC5,upstream_gene_variant,,ENST00000584320,;PSMC5,upstream_gene_variant,,ENST00000582130,;FTSJ3,non_coding_transcript_exon_variant,,ENST00000580295,;PSMC5,upstream_gene_variant,,ENST00000582420,;PSMC5,upstream_gene_variant,,ENST00000580265,;PSMC5,upstream_gene_variant,,ENST00000578570,;FTSJ3,upstream_gene_variant,,ENST00000579569,;FTSJ3,upstream_gene_variant,,ENST00000582476,;PSMC5,upstream_gene_variant,,ENST00000579031,;FTSJ3,upstream_gene_variant,,ENST00000583901,;FTSJ3,upstream_gene_variant,,ENST00000580129,;PSMC5,upstream_gene_variant,,ENST00000581764,;PSMC5,upstream_gene_variant,,ENST00000584880,;FTSJ3,upstream_gene_variant,,ENST00000584193,;FTSJ3,upstream_gene_variant,,ENST00000580376,;PSMC5,upstream_gene_variant,,ENST00000583283,;PSMC5,upstream_gene_variant,,ENST00000584657,;PSMC5,upstream_gene_variant,,ENST00000584536,;FTSJ3,upstream_gene_variant,,ENST00000577263,;PSMC5,upstream_gene_variant,,ENST00000580063,;FTSJ3,upstream_gene_variant,,ENST00000580290,;FTSJ3,upstream_gene_variant,,ENST00000579831,;PSMC5,upstream_gene_variant,,ENST00000579147,;PSMC5,upstream_gene_variant,,ENST00000585242,;	.	16	11	SUCCESS
ABCA9	10350	.	GRCh37	17	66978770	66978770	+	synonymous_variant	Silent	SNP	C	C	T	rs1390355465	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	102	0	ENST00000340001.4:c.4653G>A	p.Leu1551=	p.L1551=	ENST00000340001	NM_080283.3	1551	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11681.1	4653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCAGGGA	NONE	.	.	hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	.	.	ENSP00000342216	.	37/39	.	.	.	.	.	.	.	.	.	37/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,synonymous_variant,p.%3D,ENST00000453985,;ABCA9,synonymous_variant,p.%3D,ENST00000340001,;ABCA9,3_prime_UTR_variant,,ENST00000370732,;ABCA9,downstream_gene_variant,,ENST00000482072,;	4865	102	108	SUCCESS
PHF23	79142	.	GRCh37	17	7139048	7139048	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	55	0	ENST00000320316.3:c.1109T>G	p.Ile370Ser	p.I370S	ENST00000320316	NM_024297.2	370	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS42250.1	1109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAATCTTA	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Gene3D:3.30.40.10,Pfam_domain:PF00628,hmmpanther:PTHR14571,hmmpanther:PTHR14571:SF8	.	.	ENSP00000322579	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320316	Transcript	.	.	ENSG00000040633	28428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	deleterious(0)	.	PHF23_HUMAN	PHF23	HGNC	I3L410_HUMAN,I3L2W6_HUMAN,I3L1N0_HUMAN,I3L0X3_HUMAN	.	UPI000006CD0D	SNV	PHF23,missense_variant,p.Ile366Ser,ENST00000454255,;PHF23,missense_variant,p.Ile370Ser,ENST00000320316,;PHF23,missense_variant,p.Ile303Ser,ENST00000571362,;PHF23,missense_variant,p.Ile240Ser,ENST00000576955,;GABARAP,downstream_gene_variant,,ENST00000302386,;GABARAP,downstream_gene_variant,,ENST00000571129,;PHF23,downstream_gene_variant,,ENST00000570899,;PHF23,downstream_gene_variant,,ENST00000572789,;PHF23,downstream_gene_variant,,ENST00000574323,;PHF23,downstream_gene_variant,,ENST00000574236,;DVL2,upstream_gene_variant,,ENST00000575458,;PHF23,downstream_gene_variant,,ENST00000573826,;GABARAP,downstream_gene_variant,,ENST00000577035,;DVL2,upstream_gene_variant,,ENST00000575756,;DVL2,upstream_gene_variant,,ENST00000005340,;DVL2,upstream_gene_variant,,ENST00000574143,;PHF23,downstream_gene_variant,,ENST00000574407,;PHF23,downstream_gene_variant,,ENST00000570753,;PHF23,downstream_gene_variant,,ENST00000574899,;DVL2,upstream_gene_variant,,ENST00000576949,;CTD-2545G14.7,downstream_gene_variant,,ENST00000570760,;DVL2,upstream_gene_variant,,ENST00000572285,;DVL2,upstream_gene_variant,,ENST00000576439,;GABARAP,downstream_gene_variant,,ENST00000570856,;	1336	55	28	SUCCESS
EVPL	2125	.	GRCh37	17	74015086	74015086	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201678162	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	94	0	ENST00000301607.3:c.1193G>A	p.Arg398Gln	p.R398Q	ENST00000301607	NM_001988.2	398	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11737.1	1193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCGCCGC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	T:0.0001	ENSP00000301607	.	11/22	.	.	.	.	.	.	.	.	rs201678162,COSM3796118	11/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.29)	0,1	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Arg398Gln,ENST00000586740,;EVPL,missense_variant,p.Arg398Gln,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	1447	94	110	SUCCESS
TP53	7157	.	GRCh37	17	7576863	7576863	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	38	181	0	ENST00000269305.4:c.983del	p.Phe328SerfsTer17	p.F328Sfs*17	ENST00000269305	NM_001126112.2	328	tTc/tc	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS11118.1	983	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGTGAAATAT	CODON|p.0?|c.1_1182del1182|6,BUFFER|p.?|c.993+2T>G|3,BUFFER|p.?|c.993+2T>C|6,BUFFER|p.?|c.993+2T>G|3,BUFFER|p.?|c.993+1G>T|5,BUFFER|p.?|c.993+1G>A|15,BUFFER|p.?|c.993+1G>T|9,BUFFER|p.?|c.993+1G>C|3,BUFFER|p.?|c.993+1G>A|6,BUFFER|p.?|c.993+1G>C|3,BUFFER|p.Q331Q|c.993G>A|4,BUFFER|p.Q331H|c.993G>T|5,BUFFER|p.Q331Q|c.993G>A|3,BUFFER|p.Q331H|c.993G>T|3,BUFFER|p.Q331H|c.993G>C|3,BUFFER|p.Q331*|c.991C>T|3,BUFFER|p.Q331*|c.991C>T|13,BUFFER|p.Q331*|c.991C>T|6,BUFFER|p.Q331*|c.991C>T|33,BUFFER|p.L330R|c.989T>G|4,BUFFER|p.L330R|c.989T>G|3,BUFFER|p.L330R|c.989T>G|5,BUFFER|p.L330H|c.989T>A|3,BUFFER|p.L330R|c.989T>G|3,BUFFER|p.Y327*|c.981T>G|4,BUFFER|p.E326*|c.976G>T|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF07710,Gene3D:1olgA00,Superfamily_domains:SSF47719,Prints_domain:PR00386	.	.	ENSP00000269305	.	9/11	.	.	.	.	.	.	.	.	TP53_g.14055T>C,COSM437470,COSM46158,COSM437471	9/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	.	.	.	0,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Phe328SerfsTer23,ENST00000420246,;TP53,frameshift_variant,p.Phe328SerfsTer17,ENST00000269305,;TP53,frameshift_variant,p.Phe15SerfsTer31,ENST00000576024,;TP53,frameshift_variant,p.Phe196SerfsTer?,ENST00000509690,;TP53,frameshift_variant,p.Phe328SerfsTer24,ENST00000359597,;TP53,frameshift_variant,p.Phe328SerfsTer17,ENST00000445888,;TP53,frameshift_variant,p.Phe328SerfsTer15,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1173	181	104	SUCCESS
ZNF627	199692	.	GRCh37	19	11727702	11727702	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	63	159	0	ENST00000361113.5:c.384A>G	p.Pro128=	p.P128=	ENST00000361113	NM_145295.3	128	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS42502.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCAAATGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379	.	.	ENSP00000354414	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361113	Transcript	.	.	ENSG00000198551	30570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN627_HUMAN	ZNF627	HGNC	K7ELG4_HUMAN	.	UPI0000071491	SNV	ZNF627,synonymous_variant,p.%3D,ENST00000361113,;ZNF627,3_prime_UTR_variant,,ENST00000588174,;ZNF627,downstream_gene_variant,,ENST00000587939,;ZNF627,downstream_gene_variant,,ENST00000585493,;	592	159	160	SUCCESS
PGLS	25796	.	GRCh37	19	17626986	17626986	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	108	0	ENST00000252603.2:c.293A>G	p.His98Arg	p.H98R	ENST00000252603	NM_012088.2	98	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS12361.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCATCTTC	BUFFER|p.T97M|c.290C>T|3	.	.	hmmpanther:PTHR11054,Pfam_domain:PF01182,TIGRFAM_domain:TIGR01198,Gene3D:3.40.50.1360,Superfamily_domains:SSF100950	.	.	ENSP00000252603	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000252603	Transcript	.	.	ENSG00000130313	8903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.18)	.	6PGL_HUMAN	PGLS	HGNC	.	.	UPI0000124F8A	SNV	PGLS,missense_variant,p.His98Arg,ENST00000252603,;PGLS,missense_variant,p.His34Arg,ENST00000595782,;PGLS,missense_variant,p.His106Arg,ENST00000600923,;CTD-3131K8.2,upstream_gene_variant,,ENST00000596643,;CTD-3131K8.2,upstream_gene_variant,,ENST00000595116,;CTD-3131K8.3,downstream_gene_variant,,ENST00000596192,;PGLS,missense_variant,p.His98Arg,ENST00000594761,;PGLS,non_coding_transcript_exon_variant,,ENST00000598811,;PGLS,downstream_gene_variant,,ENST00000596799,;	337	108	72	SUCCESS
FZR1	51343	.	GRCh37	19	3531769	3531769	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754635012	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	8	145	0	ENST00000395095.3:c.778G>A	p.Ala260Thr	p.A260T	ENST00000395095	NM_001136198.1	260	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45916.1	778	MUTECT|MUSE	.	CAGCCGCAGGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19918:SF6,hmmpanther:PTHR19918,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000378529	.	8/13	.	.	.	.	.	.	.	.	rs754635012	8/13	PASS	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.201)	.	tolerated(0.39)	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,missense_variant,p.Ala171Thr,ENST00000313639,;FZR1,missense_variant,p.Ala260Thr,ENST00000395095,;FZR1,missense_variant,p.Ala260Thr,ENST00000441788,;FZR1,missense_variant,p.Ala260Thr,ENST00000591290,;FZR1,upstream_gene_variant,,ENST00000588084,;FZR1,downstream_gene_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000586212,;FZR1,downstream_gene_variant,,ENST00000592214,;	778	145	116	SUCCESS
HPN	3249	.	GRCh37	19	35533367	35533367	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	70	0	ENST00000262626.2:c.-44G>T		p.*15*	ENST00000262626	NM_182983.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32993.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGGCCCA	NONE	.	.	.	.	.	ENSP00000262626	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000262626	Transcript	.	.	ENSG00000105707	5155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEPS_HUMAN	HPN	HGNC	M0R244_HUMAN,B2ZDQ2_HUMAN	.	UPI000003FE67	SNV	HPN,5_prime_UTR_variant,,ENST00000597419,;HPN,5_prime_UTR_variant,,ENST00000262626,;HPN,5_prime_UTR_variant,,ENST00000392226,;HPN,5_prime_UTR_variant,,ENST00000600390,;SCN1B,downstream_gene_variant,,ENST00000262631,;SCN1B,downstream_gene_variant,,ENST00000595652,;SCN1B,downstream_gene_variant,,ENST00000596348,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;SCN1B,downstream_gene_variant,,ENST00000602150,;	782	70	48	SUCCESS
CHAF1A	10036	.	GRCh37	19	4422571	4422571	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	128	0	ENST00000301280.5:c.1026G>A	p.Glu342=	p.E342=	ENST00000301280	NM_005483.2	342	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS32875.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCGTCT	NONE	.	.	hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0,Pfam_domain:PF11600	.	.	ENSP00000301280	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000301280	Transcript	.	.	ENSG00000167670	1910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAF1A_HUMAN	CHAF1A	HGNC	.	.	UPI00002030F8	SNV	CHAF1A,synonymous_variant,p.%3D,ENST00000301280,;CHAF1A,synonymous_variant,p.%3D,ENST00000587739,;CHAF1A,intron_variant,,ENST00000585371,;	1127	128	70	SUCCESS
GPR4	2828	.	GRCh37	19	46095309	46095309	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	150	0	ENST00000323040.4:c.-185C>T		p.*62*	ENST00000323040	NM_005282.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12669.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGAGAGG	NONE	.	.	.	.	.	ENSP00000319744	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000323040	Transcript	.	.	ENSG00000177464	4497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR4_HUMAN	GPR4	HGNC	.	.	UPI0000050428	SNV	GPR4,5_prime_UTR_variant,,ENST00000323040,;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	761	150	113	SUCCESS
TMEM86B	255043	.	GRCh37	19	55740251	55740251	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	40	0	ENST00000327042.4:c.-142G>A		p.*48*	ENST00000327042	NM_173804.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12920.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGTCCTCACC	NONE	.	.	.	.	.	ENSP00000321038	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000327042	Transcript	.	.	ENSG00000180089	28448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM86B_HUMAN	TMEM86B	HGNC	.	.	UPI0000141ABB	SNV	TMEM86B,5_prime_UTR_variant,,ENST00000327042,;AC010327.2,3_prime_UTR_variant,,ENST00000598855,;PPP6R1,downstream_gene_variant,,ENST00000587283,;PPP6R1,downstream_gene_variant,,ENST00000412770,;TMEM86B,non_coding_transcript_exon_variant,,ENST00000586923,;TMEM86B,upstream_gene_variant,,ENST00000589190,;PPP6R1,downstream_gene_variant,,ENST00000587457,;TMEM86B,upstream_gene_variant,,ENST00000585416,;	382	40	36	SUCCESS
NRAS	4893	.	GRCh37	1	115256600	115256600	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	35	59	0	ENST00000369535.4:c.112-1G>A		p.X38_splice	ENST00000369535	NM_002524.4	38		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCTGGGG	NONE	.	.	.	.	.	ENSP00000358548	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369535	Transcript	.	.	ENSG00000213281	7989	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASN_HUMAN	NRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,Q5U091_HUMAN,P78460_HUMAN	.	UPI0000001254	SNV	NRAS,splice_acceptor_variant,,ENST00000369535,;CSDE1,downstream_gene_variant,,ENST00000369530,;CSDE1,downstream_gene_variant,,ENST00000261443,;CSDE1,downstream_gene_variant,,ENST00000358528,;CSDE1,downstream_gene_variant,,ENST00000339438,;CSDE1,downstream_gene_variant,,ENST00000530886,;CSDE1,downstream_gene_variant,,ENST00000534699,;CSDE1,downstream_gene_variant,,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000483407,;	.	59	55	SUCCESS
TCHHL1	126637	.	GRCh37	1	152057498	152057498	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	67	101	0	ENST00000368806.1:c.2660A>G	p.His887Arg	p.H887R	ENST00000368806	NM_001008536.1	887	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS30857.1	2660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGTGACCT	NONE	.	.	.	.	.	ENSP00000357796	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368806	Transcript	.	.	ENSG00000182898	31796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	TCHL1_HUMAN	TCHHL1	HGNC	.	.	UPI0000496834	SNV	TCHHL1,missense_variant,p.His887Arg,ENST00000368806,;	2725	101	197	SUCCESS
INTS3	65123	.	GRCh37	1	153745721	153745721	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	137	86	0	ENST00000318967.2:c.3104C>T	p.Ser1035Phe	p.S1035F	ENST00000318967	NM_023015.3	1035	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS1052.1	3104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCTGCAG	NONE	.	.	hmmpanther:PTHR13587	.	.	ENSP00000318641	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000318967	Transcript	.	.	ENSG00000143624	26153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	deleterious(0)	.	INT3_HUMAN	INTS3	HGNC	.	.	UPI0000231CA8	SNV	INTS3,missense_variant,p.Ser1035Phe,ENST00000435409,;INTS3,missense_variant,p.Ser1035Phe,ENST00000318967,;INTS3,missense_variant,p.Ser895Phe,ENST00000512605,;INTS3,missense_variant,p.Ser895Phe,ENST00000456435,;SLC27A3,upstream_gene_variant,,ENST00000458027,;SLC27A3,upstream_gene_variant,,ENST00000532853,;SLC27A3,upstream_gene_variant,,ENST00000271857,;SLC27A3,upstream_gene_variant,,ENST00000368661,;INTS3,non_coding_transcript_exon_variant,,ENST00000476843,;SLC27A3,upstream_gene_variant,,ENST00000484014,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000368670,;INTS3,non_coding_transcript_exon_variant,,ENST00000368669,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;SLC27A3,upstream_gene_variant,,ENST00000483574,;SLC27A3,upstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000531251,;SLC27A3,upstream_gene_variant,,ENST00000468403,;	3672	86	178	SUCCESS
KCNN3	3782	.	GRCh37	1	154842061	154842061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1322174628	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	47	147	0	ENST00000271915.4:c.380G>A	p.Gly127Asp	p.G127D	ENST00000271915	NM_001204087.1	127	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS30880.1	380	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCTTGC	NONE	.	.	hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153	.	.	ENSP00000271915	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000271915	Transcript	.	.	ENSG00000143603	6292	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated_low_confidence(0.2)	.	.	KCNN3	HGNC	Q6JXY2_HUMAN	.	UPI000013D915	SNV	KCNN3,missense_variant,p.Gly127Asp,ENST00000271915,;KCNN3,upstream_gene_variant,,ENST00000358505,;	696	147	245	SUCCESS
F5	2153	.	GRCh37	1	169555596	169555596	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	53	45	0	ENST00000367797.3:c.29T>G	p.Val10Gly	p.V10G	ENST00000367797	NM_000130.4	10	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS1281.1	29	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGACCCAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000356771	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.795)	.	deleterious(0)	.	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,missense_variant,p.Val10Gly,ENST00000367796,;F5,missense_variant,p.Val10Gly,ENST00000367797,;F5,5_prime_UTR_variant,,ENST00000546081,;SELP,downstream_gene_variant,,ENST00000263686,;SELP,downstream_gene_variant,,ENST00000367793,;SELP,downstream_gene_variant,,ENST00000458599,;SELP,downstream_gene_variant,,ENST00000367794,;SELP,downstream_gene_variant,,ENST00000426706,;SELP,downstream_gene_variant,,ENST00000367786,;SELP,downstream_gene_variant,,ENST00000367792,;SELP,downstream_gene_variant,,ENST00000367788,;SELP,downstream_gene_variant,,ENST00000367791,;SELP,downstream_gene_variant,,ENST00000466167,;	231	45	82	SUCCESS
SMG7	9887	.	GRCh37	1	183510238	183510238	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	417	70	314	0	ENST00000347615.2:c.1415G>A	p.Arg472Lys	p.R472K	ENST00000347615	NM_173156.2	472	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS41445.2	1415	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAGGTAAG	NONE	.	.	hmmpanther:PTHR15696:SF0,hmmpanther:PTHR15696,Superfamily_domains:SSF48452	.	.	ENSP00000425133	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.13)	.	tolerated(0.4)	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,missense_variant,p.Arg430Lys,ENST00000419169,;SMG7,missense_variant,p.Arg501Lys,ENST00000367537,;SMG7,missense_variant,p.Arg472Lys,ENST00000347615,;SMG7,missense_variant,p.Arg472Lys,ENST00000507469,;SMG7,missense_variant,p.Arg430Lys,ENST00000456731,;SMG7,missense_variant,p.Arg472Lys,ENST00000515829,;SMG7,missense_variant,p.Arg430Lys,ENST00000508461,;	1533	314	487	SUCCESS
AGT	183	.	GRCh37	1	230838957	230838957	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769416248	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	94	142	0	ENST00000366667.4:c.1388C>T	p.Ala463Val	p.A463V	ENST00000366667	NM_000029.3	463	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1585.1	1388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGCAAAC	NONE	byFrequency	.	hmmpanther:PTHR11461:SF13,hmmpanther:PTHR11461,PROSITE_patterns:PS00284,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000355627	.	5/5	.	.	.	.	.	.	.	.	rs769416248	5/5	PASS	ENST00000366667	Transcript	.	.	ENSG00000135744	333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	tolerated(0.09)	.	ANGT_HUMAN	AGT	HGNC	B0ZBE2_HUMAN	.	UPI0000125B13	SNV	AGT,missense_variant,p.Ala463Val,ENST00000366667,;	1603	142	241	SUCCESS
EDARADD	128178	.	GRCh37	1	236590697	236590697	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	56	243	0	ENST00000334232.4:c.166G>C	p.Glu56Gln	p.E56Q	ENST00000334232	NM_145861.2	56	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS1610.1	166	RADIA|MUTECT|MUSE	.	CTGAAGAATGT	NONE	.	.	.	.	.	ENSP00000335076	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000334232	Transcript	.	.	ENSG00000186197	14341	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.019)	.	tolerated(0.18)	.	EDAD_HUMAN	EDARADD	HGNC	B1AL55_HUMAN	.	UPI0000456324	SNV	EDARADD,missense_variant,p.Glu46Gln,ENST00000359362,;EDARADD,missense_variant,p.Glu56Gln,ENST00000334232,;EDARADD,missense_variant,p.Glu34Gln,ENST00000439430,;	333	243	380	SUCCESS
C1orf229	0	.	GRCh37	1	247275580	247275580	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	93	1	ENST00000408893.2:c.-54C>T		p.*18*	ENST00000408893	NM_207401.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1630.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCGCCGCC	NONE	.	.	.	.	.	ENSP00000386203	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408893	Transcript	.	.	ENSG00000221953	33759	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA229_HUMAN	C1orf229	HGNC	.	.	UPI00001C0E7C	SNV	C1orf229,5_prime_UTR_variant,,ENST00000408893,;	140	94	125	SUCCESS
COL16A1	1307	.	GRCh37	1	32131184	32131184	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs995290122	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	61	0	ENST00000373672.3:c.3492G>A		p.X1164_splice	ENST00000373672	NM_001856.3	1164	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41297.1	3492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	55/71	.	.	.	.	.	.	.	.	.	55/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,synonymous_variant,p.%3D,ENST00000373672,;COL16A1,synonymous_variant,p.%3D,ENST00000271069,;COL16A1,synonymous_variant,p.%3D,ENST00000440437,;COL16A1,downstream_gene_variant,,ENST00000468459,;COL16A1,upstream_gene_variant,,ENST00000466829,;COL16A1,splice_region_variant,,ENST00000488128,;COL16A1,splice_region_variant,,ENST00000470799,;COL16A1,non_coding_transcript_exon_variant,,ENST00000482910,;COL16A1,upstream_gene_variant,,ENST00000488897,;COL16A1,downstream_gene_variant,,ENST00000479100,;	4009	61	60	SUCCESS
ERMAP	114625	.	GRCh37	1	43296622	43296622	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	68	156	0	ENST00000372514.3:c.269T>A	p.Leu90Gln	p.L90Q	ENST00000372514	NM_018538.3	90	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS475.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCTGATGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF46,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000361595	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000372517	Transcript	.	.	ENSG00000164010	15743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.06)	.	ERMAP_HUMAN	ERMAP	HGNC	G4XL73_HUMAN	.	UPI000007000D	SNV	ERMAP,missense_variant,p.Leu90Gln,ENST00000372517,;ERMAP,missense_variant,p.Leu90Gln,ENST00000372514,;ERMAP,5_prime_UTR_variant,,ENST00000328249,;RP11-342M1.3,downstream_gene_variant,,ENST00000414798,;ERMAP,intron_variant,,ENST00000487556,;	513	156	128	SUCCESS
TOE1	114034	.	GRCh37	1	45805609	45805609	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs748796325	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	68	238	0	ENST00000372090.5:c.-316C>A		p.*106*	ENST00000372090	NM_025077.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS520.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCCCGC	NONE	.	.	.	.	.	ENSP00000361170	.	.	.	.	.	.	.	.	.	.	rs748796325	.	PASS	ENST00000372098	Transcript	.	.	ENSG00000132781	7527	.	.	MODIFIER	1/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUTYH_HUMAN	MUTYH	HGNC	E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN	.	UPI000006EB4F	SNV	MUTYH,5_prime_UTR_variant,,ENST00000528013,;TOE1,5_prime_UTR_variant,,ENST00000372090,;MUTYH,5_prime_UTR_variant,,ENST00000456914,;MUTYH,5_prime_UTR_variant,,ENST00000483127,;MUTYH,intron_variant,,ENST00000372098,;MUTYH,intron_variant,,ENST00000412971,;MUTYH,intron_variant,,ENST00000531105,;MUTYH,intron_variant,,ENST00000372110,;MUTYH,intron_variant,,ENST00000355498,;MUTYH,intron_variant,,ENST00000450313,;MUTYH,intron_variant,,ENST00000372115,;MUTYH,intron_variant,,ENST00000372100,;MUTYH,intron_variant,,ENST00000488731,;MUTYH,intron_variant,,ENST00000529984,;MUTYH,intron_variant,,ENST00000435155,;MUTYH,intron_variant,,ENST00000354383,;MUTYH,intron_variant,,ENST00000528332,;MUTYH,upstream_gene_variant,,ENST00000372104,;TESK2,downstream_gene_variant,,ENST00000341771,;TESK2,downstream_gene_variant,,ENST00000538496,;MUTYH,upstream_gene_variant,,ENST00000448481,;TOE1,upstream_gene_variant,,ENST00000539779,;TESK2,downstream_gene_variant,,ENST00000372086,;TESK2,downstream_gene_variant,,ENST00000372084,;TOE1,upstream_gene_variant,,ENST00000495703,;TOE1,upstream_gene_variant,,ENST00000477731,;TESK2,downstream_gene_variant,,ENST00000486676,;TOE1,upstream_gene_variant,,ENST00000471337,;TOE1,upstream_gene_variant,,ENST00000460057,;MUTYH,non_coding_transcript_exon_variant,,ENST00000485484,;MUTYH,non_coding_transcript_exon_variant,,ENST00000492494,;MUTYH,non_coding_transcript_exon_variant,,ENST00000479746,;MUTYH,intron_variant,,ENST00000525160,;MUTYH,intron_variant,,ENST00000481571,;MUTYH,intron_variant,,ENST00000534453,;MUTYH,intron_variant,,ENST00000475516,;MUTYH,intron_variant,,ENST00000470256,;MUTYH,intron_variant,,ENST00000474703,;MUTYH,intron_variant,,ENST00000461495,;MUTYH,intron_variant,,ENST00000481139,;MUTYH,intron_variant,,ENST00000467940,;MUTYH,intron_variant,,ENST00000476789,;MUTYH,intron_variant,,ENST00000462387,;MUTYH,intron_variant,,ENST00000483642,;	.	238	233	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3679945	3679945	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756452334	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	77	144	0	ENST00000344754.4:c.1690G>T	p.Ala564Ser	p.A564S	ENST00000344754	NM_023068.3	564	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13060.1	1690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGCGGGGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	7/21	.	.	.	.	.	.	.	.	rs756452334	7/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	tolerated(0.23)	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.Ala564Ser,ENST00000344754,;SIGLEC1,missense_variant,p.Ala564Ser,ENST00000202578,;	1690	144	143	SUCCESS
ODC1	4953	.	GRCh37	2	10580969	10580969	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	117	0	ENST00000234111.4:c.1267C>T	p.Pro423Ser	p.P423S	ENST00000234111	NM_002539.1	423	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1672.1	1267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGGGTTCT	NONE	.	.	hmmpanther:PTHR11482:SF42,hmmpanther:PTHR11482,Superfamily_domains:SSF50621	.	.	ENSP00000234111	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000234111	Transcript	.	.	ENSG00000115758	8109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.47)	.	DCOR_HUMAN	ODC1	HGNC	C9JG30_HUMAN	.	UPI0000001283	SNV	ODC1,missense_variant,p.Pro423Ser,ENST00000234111,;ODC1,missense_variant,p.Pro423Ser,ENST00000405333,;ODC1,downstream_gene_variant,,ENST00000443218,;ODC1,downstream_gene_variant,,ENST00000446285,;	1778	117	76	SUCCESS
POTEF	728378	.	GRCh37	2	130872600	130872600	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	38	157	0	ENST00000357462.5:c.664G>A	p.Ala222Thr	p.A222T	ENST00000357462		222	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46409.1	664	RADIA|SOMATICSNIPER|VARSCANS	.	TAACGCACATT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000350052	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.947)	.	deleterious_low_confidence(0.04)	.	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,missense_variant,p.Ala232Thr,ENST00000361163,;POTEF,missense_variant,p.Ala222Thr,ENST00000357462,;POTEF,missense_variant,p.Ala222Thr,ENST00000360967,;POTEF,missense_variant,p.Ala222Thr,ENST00000409914,;	758	157	113	SUCCESS
KIF5C	3800	.	GRCh37	2	149803415	149803415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	59	192	0	ENST00000435030.1:c.592A>G	p.Met198Val	p.M198V	ENST00000435030		198	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	.	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACATGAAT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000393379	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	deleterious(0)	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,missense_variant,p.Met198Val,ENST00000435030,;KIF5C,missense_variant,p.Met103Val,ENST00000414838,;KIF5C,upstream_gene_variant,,ENST00000397413,;KIF5C,upstream_gene_variant,,ENST00000450621,;KIF5C,upstream_gene_variant,,ENST00000464066,;	960	192	144	SUCCESS
TTN	7273	.	GRCh37	2	179500897	179500897	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	102	0	ENST00000591111.1:c.36478A>T	p.Ser12160Cys	p.S12160C	ENST00000591111		12160	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS59435.1	41401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTCAAGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	226/363	.	.	.	.	.	.	.	.	.	226/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser4861Cys,ENST00000359218,;TTN,missense_variant,p.Ser12160Cys,ENST00000591111,;TTN,missense_variant,p.Ser13801Cys,ENST00000589042,;TTN,missense_variant,p.Ser11233Cys,ENST00000342992,;TTN,missense_variant,p.Ser4928Cys,ENST00000342175,;TTN,missense_variant,p.Ser4736Cys,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000426232,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;	41626	102	68	SUCCESS
ZDBF2	57683	.	GRCh37	2	207174808	207174808	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	157	0	ENST00000374423.3:c.5556A>G	p.Glu1852=	p.E1852=	ENST00000374423	NM_020923.1	1852	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS46501.1	5556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAAGGTCG	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,synonymous_variant,p.%3D,ENST00000374423,;	5942	157	98	SUCCESS
ERBB4	2066	.	GRCh37	2	212483999	212483999	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	67	0	ENST00000342788.4:c.2204del	p.Gly735ValfsTer10	p.G735Vfs*10	ENST00000342788	NM_005235.2	735	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS2394.1	2204	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAATACCCTTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000342235	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	deletion	ERBB4,frameshift_variant,p.Gly725ValfsTer10,ENST00000402597,;ERBB4,frameshift_variant,p.Gly735ValfsTer10,ENST00000436443,;ERBB4,frameshift_variant,p.Gly725ValfsTer?,ENST00000260943,;ERBB4,frameshift_variant,p.Gly735ValfsTer10,ENST00000342788,;ERBB4,splice_region_variant,,ENST00000484594,;	2515	67	53	SUCCESS
COL4A3	1285	.	GRCh37	2	228141109	228141109	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	96	0	ENST00000396578.3:c.1936G>T	p.Gly646Ter	p.G646*	ENST00000396578	NM_000091.4	646	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS42829.1	1936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGGGAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF417,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000379823	.	27/52	.	.	.	.	.	.	.	.	.	27/52	PASS	ENST00000396578	Transcript	.	.	ENSG00000169031	2204	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A3_HUMAN	COL4A3	HGNC	Q548X1_HUMAN,A9QVI3_HUMAN	.	UPI000013E9F3	SNV	COL4A3,stop_gained,p.Gly646Ter,ENST00000396578,;AC097662.2,intron_variant,,ENST00000433324,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000439598,;	2098	96	75	SUCCESS
ASB1	51665	.	GRCh37	2	239353215	239353215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	88	0	ENST00000264607.4:c.727G>T	p.Val243Phe	p.V243F	ENST00000264607	NM_001040445.1	243	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33416.1	727	MUTECT|MUSE	.	ATGCTGTTCTG	NONE	.	.	hmmpanther:PTHR24181,hmmpanther:PTHR24181:SF21,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000264607	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000264607	Transcript	.	.	ENSG00000065802	16011	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ASB1_HUMAN	ASB1	HGNC	.	.	UPI000004A4F2	SNV	ASB1,missense_variant,p.Val142Phe,ENST00000409297,;ASB1,missense_variant,p.Val243Phe,ENST00000264607,;ASB1,non_coding_transcript_exon_variant,,ENST00000468122,;ASB1,downstream_gene_variant,,ENST00000463352,;ASB1,upstream_gene_variant,,ENST00000481566,;ASB1,3_prime_UTR_variant,,ENST00000438264,;ASB1,downstream_gene_variant,,ENST00000491653,;	974	88	57	SUCCESS
BIRC6	57448	.	GRCh37	2	32774378	32774378	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	98	386	0	ENST00000421745.2:c.12976-2A>G		p.X4326_splice	ENST00000421745	NM_016252.3	4326		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33175.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAGGTTC	NONE	.	.	.	.	.	ENSP00000393596	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	HIGH	64/73	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,splice_acceptor_variant,,ENST00000421745,;BIRC6,splice_acceptor_variant,,ENST00000471232,;	.	386	250	SUCCESS
MYADML	151325	.	GRCh37	2	33952316	33952316	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	15	0	ENST00000474610.1:n.959C>A		p.*320*	ENST00000474610				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	GGGCAGTGGCA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366209	Transcript	.	.	ENSG00000203386	.	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC009499.1	Clone_based_vega_gene	.	.	.	SNV	AC009499.1,intron_variant,,ENST00000442026,;AC009499.1,intron_variant,,ENST00000366209,;MYADML,non_coding_transcript_exon_variant,,ENST00000474610,;MYADML,non_coding_transcript_exon_variant,,ENST00000490394,;MYADML,non_coding_transcript_exon_variant,,ENST00000491596,;MYADML,non_coding_transcript_exon_variant,,ENST00000322472,;	.	15	11	SUCCESS
HK2	3099	.	GRCh37	2	75113492	75113492	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	96	0	ENST00000290573.2:c.2007C>T	p.Asp669=	p.D669=	ENST00000290573	NM_000189.4	669	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS1956.1	2007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACCCTCA	NONE	.	.	hmmpanther:PTHR19443:SF4,hmmpanther:PTHR19443,Gene3D:3.40.367.20,Pfam_domain:PF00349,Superfamily_domains:SSF53067	.	.	ENSP00000290573	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,synonymous_variant,p.%3D,ENST00000409174,;HK2,synonymous_variant,p.%3D,ENST00000290573,;	2607	96	65	SUCCESS
POPDC2	64091	.	GRCh37	3	119367248	119367248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	84	177	1	ENST00000264231.3:c.868T>A	p.Cys290Ser	p.C290S	ENST00000264231	NM_022135.2	290	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS2992.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGACTT	NONE	.	.	hmmpanther:PTHR12101,hmmpanther:PTHR12101:SF15	.	.	ENSP00000264231	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000264231	Transcript	.	.	ENSG00000121577	17648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	POPD2_HUMAN	POPDC2	HGNC	.	.	UPI000000DAC2	SNV	POPDC2,missense_variant,p.Cys290Ser,ENST00000538678,;POPDC2,missense_variant,p.Cys290Ser,ENST00000468801,;POPDC2,missense_variant,p.Cys290Ser,ENST00000264231,;POPDC2,missense_variant,p.Cys290Ser,ENST00000493094,;POPDC2,non_coding_transcript_exon_variant,,ENST00000474523,;POPDC2,non_coding_transcript_exon_variant,,ENST00000468916,;POPDC2,downstream_gene_variant,,ENST00000463323,;POPDC2,missense_variant,p.Cys290Ser,ENST00000341124,;POPDC2,non_coding_transcript_exon_variant,,ENST00000476092,;	1035	178	174	SUCCESS
A4GNT	51146	.	GRCh37	3	137849889	137849889	+	synonymous_variant	Silent	SNP	G	G	A	rs374392631	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	104	235	0	ENST00000236709.3:c.210C>T	p.Ser70=	p.S70=	ENST00000236709	NM_016161.2	70	tcC/tcT	0	C:0	.	.	.	.	A	S	protein_coding	YES	CCDS3097.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACGGAACA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53448,Pfam_domain:PF04488,hmmpanther:PTHR12042:SF16,hmmpanther:PTHR12042	.	C:0.0002	ENSP00000236709	.	2/3	.	.	.	.	.	.	.	.	rs374392631,COSM3587939	2/3	PASS	ENST00000236709	Transcript	.	.	ENSG00000118017	17968	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	A4GCT_HUMAN	A4GNT	HGNC	.	.	UPI000003FF93	SNV	A4GNT,synonymous_variant,p.%3D,ENST00000236709,;	412	235	211	SUCCESS
ATP1B3	483	.	GRCh37	3	141595480	141595480	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	24	0	ENST00000286371.3:c.-164G>C		p.*55*	ENST00000286371	NM_001679.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3121.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCGGCGCA	NONE	.	.	.	.	.	ENSP00000286371	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000286371	Transcript	.	.	ENSG00000069849	806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT1B3_HUMAN	ATP1B3	HGNC	Q58I18_HUMAN,C9JA36_HUMAN	.	UPI0000000CBB	SNV	ATP1B3,5_prime_UTR_variant,,ENST00000286371,;ATP1B3,intron_variant,,ENST00000475483,;ATP1B3,upstream_gene_variant,,ENST00000462082,;ATP1B3,upstream_gene_variant,,ENST00000539728,;ATP1B3,upstream_gene_variant,,ENST00000495216,;ATP1B3,5_prime_UTR_variant,,ENST00000465172,;ATP1B3,upstream_gene_variant,,ENST00000466678,;	25	24	22	SUCCESS
MYNN	55892	.	GRCh37	3	169491124	169491124	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs775914364	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	10	0	ENST00000349841.5:c.-158G>T		p.*53*	ENST00000349841	NM_018657.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3207.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGGGAAG	NONE	.	.	.	.	.	ENSP00000326240	.	1/8	.	.	.	.	.	.	.	.	rs775914364	1/8	PASS	ENST00000349841	Transcript	.	.	ENSG00000085274	14955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYNN_HUMAN	MYNN	HGNC	B4E2H9_HUMAN	.	UPI000000D72A	SNV	MYNN,5_prime_UTR_variant,,ENST00000392733,;MYNN,5_prime_UTR_variant,,ENST00000349841,;MYNN,upstream_gene_variant,,ENST00000356716,;ACTRT3,upstream_gene_variant,,ENST00000330368,;MYNN,upstream_gene_variant,,ENST00000544106,;RP11-816J6.3,downstream_gene_variant,,ENST00000602879,;RP11-362K14.5,downstream_gene_variant,,ENST00000602342,;MYNN,upstream_gene_variant,,ENST00000602751,;	506	10	14	SUCCESS
CELSR3	1951	.	GRCh37	3	48698559	48698559	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	121	0	ENST00000164024.4:c.1509C>T	p.Arg503=	p.R503=	ENST00000164024	NM_001407.2	503	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2775.1	1509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGCGGTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50268	.	.	ENSP00000164024	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,synonymous_variant,p.%3D,ENST00000544264,;CELSR3,synonymous_variant,p.%3D,ENST00000164024,;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	1790	121	124	SUCCESS
NCKIPSD	51517	.	GRCh37	3	48723213	48723213	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1194281837	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	37	0	ENST00000294129.2:c.28T>C	p.Ser10Pro	p.S10P	ENST00000294129	NM_016453.3	10	Tcg/Ccg	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS2776.1	28	RADIA|MUSE	.	CGCCGAGCGGA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR13357,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000294129	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000294129	Transcript	.	.	ENSG00000213672	15486	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	SPN90_HUMAN	NCKIPSD	HGNC	C9JMQ4_HUMAN,C9JC20_HUMAN	.	UPI0000135D86	SNV	NCKIPSD,missense_variant,p.Ser10Pro,ENST00000416649,;NCKIPSD,missense_variant,p.Ser10Pro,ENST00000294129,;NCKIPSD,missense_variant,p.Ser10Pro,ENST00000439518,;NCKIPSD,missense_variant,p.Ser10Pro,ENST00000341520,;NCKIPSD,intron_variant,,ENST00000426678,;NCKIPSD,intron_variant,,ENST00000453349,;NCKIPSD,upstream_gene_variant,,ENST00000415281,;IP6K2,downstream_gene_variant,,ENST00000328631,;NCKIPSD,missense_variant,p.Ser10Pro,ENST00000454134,;IP6K2,downstream_gene_variant,,ENST00000479914,;IP6K2,downstream_gene_variant,,ENST00000491686,;	148	37	22	SUCCESS
ITIH3	3699	.	GRCh37	3	52834993	52834993	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	29	149	0	ENST00000449956.2:c.1214C>A	p.Pro405His	p.P405H	ENST00000449956	NM_002217.3	405	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS46845.1	1214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCCGAAA	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR10338:SF24,hmmpanther:PTHR10338,PROSITE_profiles:PS50234	.	.	ENSP00000415769	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000449956	Transcript	.	.	ENSG00000162267	6168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.55)	.	ITIH3_HUMAN	ITIH3	HGNC	.	.	UPI00005CE290	SNV	ITIH3,missense_variant,p.Pro405His,ENST00000416872,;ITIH3,missense_variant,p.Pro405His,ENST00000449956,;ITIH3,non_coding_transcript_exon_variant,,ENST00000465243,;ITIH3,downstream_gene_variant,,ENST00000463893,;ITIH3,non_coding_transcript_exon_variant,,ENST00000464804,;ITIH3,upstream_gene_variant,,ENST00000493136,;ITIH3,upstream_gene_variant,,ENST00000495622,;ITIH3,upstream_gene_variant,,ENST00000475931,;ITIH3,downstream_gene_variant,,ENST00000467268,;ITIH3,upstream_gene_variant,,ENST00000465314,;	1220	149	151	SUCCESS
FAM107A	11170	.	GRCh37	3	58552686	58552686	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	14	0	ENST00000360997.2:c.327+249A>T		p.*109*	ENST00000360997	NM_001076778.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2892.1	.	SOMATICSNIPER|RADIA|MUTECT	.	AGTTATAAGAA	NONE	.	.	.	.	.	ENSP00000377991	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394481	Transcript	.	.	ENSG00000168309	30827	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F107A_HUMAN	FAM107A	HGNC	Q6IAM1_HUMAN,C9JAU5_HUMAN	.	UPI000012989D	SNV	FAM107A,3_prime_UTR_variant,,ENST00000464064,;FAM107A,intron_variant,,ENST00000447756,;FAM107A,intron_variant,,ENST00000474531,;FAM107A,intron_variant,,ENST00000360997,;FAM107A,intron_variant,,ENST00000394481,;FAM107A,downstream_gene_variant,,ENST00000465970,;	.	14	13	SUCCESS
CNTN3	5067	.	GRCh37	3	74334612	74334612	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	67	138	0	ENST00000263665.6:c.2548G>A	p.Glu850Lys	p.E850K	ENST00000263665	NM_020872.1	850	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33790.1	2548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCCTCCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF54,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000263665	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000263665	Transcript	.	.	ENSG00000113805	2173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.17)	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	SNV	CNTN3,missense_variant,p.Glu850Lys,ENST00000263665,;	2576	138	121	SUCCESS
OR5H14	403273	.	GRCh37	3	97868504	97868504	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	50	183	0	ENST00000437310.1:c.275T>A	p.Ile92Lys	p.I92K	ENST00000437310	NM_001005514.1	92	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS33798.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGATATCTC	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Ile92Lys,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	335	183	191	SUCCESS
CLNK	116449	.	GRCh37	4	10567642	10567642	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	73	0	ENST00000226951.6:c.283G>C	p.Glu95Gln	p.E95Q	ENST00000226951	NM_052964.2	95	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS47024.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTCAGATT	NONE	.	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF2	.	.	ENSP00000226951	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000226951	Transcript	.	.	ENSG00000109684	17438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.685)	.	tolerated(0.06)	.	CLNK_HUMAN	CLNK	HGNC	D6RJB9_HUMAN	.	UPI000004A23A	SNV	CLNK,missense_variant,p.Glu53Gln,ENST00000507719,;CLNK,missense_variant,p.Glu95Gln,ENST00000226951,;CLNK,missense_variant,p.Glu53Gln,ENST00000442825,;	523	73	49	SUCCESS
LRIT3	345193	.	GRCh37	4	110772751	110772751	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs544073628	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	34	99	0	ENST00000594814.1:c.208C>T	p.Arg70Cys	p.R70C	ENST00000594814	NM_198506.4	70	Cgc/Tgc	0	.	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS3688.3	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCGCAGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24367:SF236,hmmpanther:PTHR24367,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	T:0	.	ENSP00000469759	T:0	2/4	.	.	.	.	.	.	.	.	rs544073628	2/4	PASS	ENST00000594814	Transcript	1	T:0.0006	ENSG00000183423	24783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	T:0.0031	deleterious(0)	.	LRIT3_HUMAN	LRIT3	HGNC	.	.	UPI0000F07E94	SNV	LRIT3,missense_variant,p.Arg25Cys,ENST00000379920,;LRIT3,missense_variant,p.Arg70Cys,ENST00000594814,;LRIT3,5_prime_UTR_variant,,ENST00000327908,;	208	99	86	SUCCESS
LARP1B	55132	.	GRCh37	4	129028555	129028555	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	104	0	ENST00000326639.6:c.988+87T>G		p.*330*	ENST00000326639	NM_018078.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3738.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTTAGATT	NONE	.	.	.	.	.	ENSP00000321997	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	.	.	MODIFIER	9/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	SNV	LARP1B,stop_lost,p.Ter359GluextTer2,ENST00000432347,;LARP1B,intron_variant,,ENST00000441387,;LARP1B,intron_variant,,ENST00000512292,;LARP1B,intron_variant,,ENST00000427266,;LARP1B,intron_variant,,ENST00000264584,;LARP1B,intron_variant,,ENST00000326639,;LARP1B,intron_variant,,ENST00000394288,;LARP1B,intron_variant,,ENST00000354456,;LARP1B,intron_variant,,ENST00000507377,;LARP1B,intron_variant,,ENST00000508819,;	.	104	65	SUCCESS
TMEM144	55314	.	GRCh37	4	159162713	159162713	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	53	0	ENST00000296529.6:c.855A>C	p.Ala285=	p.A285=	ENST00000296529	NM_018342.4	285	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3799.1	855	RADIA|MUTECT|MUSE	.	ATAGCAAATCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16119:SF12,hmmpanther:PTHR16119,Superfamily_domains:0043518	.	.	ENSP00000296529	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000296529	Transcript	.	.	ENSG00000164124	25633	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM144_HUMAN	TMEM144	HGNC	D6RDN8_HUMAN,D6RDF9_HUMAN,D6RCA2_HUMAN,D6RAX5_HUMAN,D6R9U5_HUMAN,D6R9I0_HUMAN	.	UPI0000140BEC	SNV	TMEM144,synonymous_variant,p.%3D,ENST00000296529,;TMEM144,non_coding_transcript_exon_variant,,ENST00000503404,;TMEM144,3_prime_UTR_variant,,ENST00000511532,;TMEM144,non_coding_transcript_exon_variant,,ENST00000512272,;	1375	53	40	SUCCESS
FAM53A	152877	.	GRCh37	4	1657010	1657010	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	71	0	ENST00000308132.6:c.577G>T	p.Gly193Cys	p.G193C	ENST00000308132	NM_001174070.1	193	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33939.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15242	.	.	ENSP00000310057	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000308132	Transcript	.	.	ENSG00000174137	31860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FA53A_HUMAN	FAM53A	HGNC	C9J9E1_HUMAN	.	UPI000023730C	SNV	FAM53A,missense_variant,p.Gly193Cys,ENST00000472884,;FAM53A,missense_variant,p.Gly193Cys,ENST00000308132,;FAM53A,missense_variant,p.Gly193Cys,ENST00000489363,;FAM53A,missense_variant,p.Gly43Cys,ENST00000489029,;FAM53A,missense_variant,p.Gly193Cys,ENST00000461064,;FAM53A,downstream_gene_variant,,ENST00000463238,;	770	71	37	SUCCESS
TMEM165	55858	.	GRCh37	4	56284075	56284077	+	inframe_deletion	In_Frame_Del	DEL	CAA	CAA	-	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	CAA	CAA	.	.	.	.	.	.	.	.	.	.	.	.	.	98	44	243	0	ENST00000381334.5:c.715_717del	p.Gln239del	p.Q239del	ENST00000381334	NM_018475.4	239	CAA/-	0	.	.	.	.	.	-	Q/-	protein_coding	YES	CCDS3499.1	715-717	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGTTCAAGCTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12608,Pfam_domain:PF01169	.	.	ENSP00000370736	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000381334	Transcript	1	.	ENSG00000134851	30760	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM165_HUMAN	TMEM165	HGNC	.	.	UPI0000035F63	deletion	TMEM165,inframe_deletion,p.Gln239del,ENST00000381334,;TMEM165,inframe_deletion,p.Gln176del,ENST00000542052,;TMEM165,inframe_deletion,p.Gln76del,ENST00000608091,;TMEM165,intron_variant,,ENST00000506198,;TMEM165,non_coding_transcript_exon_variant,,ENST00000514904,;TMEM165,intron_variant,,ENST00000508561,;TMEM165,downstream_gene_variant,,ENST00000511710,;TMEM165,3_prime_UTR_variant,,ENST00000508404,;TMEM165,non_coding_transcript_exon_variant,,ENST00000509575,;TMEM165,upstream_gene_variant,,ENST00000506103,;	948-950	243	142	SUCCESS
LPHN3	0	.	GRCh37	4	62897286	62897286	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	121	0	ENST00000514591.1:c.3345G>T	p.Gln1115His	p.Q1115H	ENST00000514591		1115	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS54768.1	3345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGGGAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,PROSITE_patterns:PS00650,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000422533	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	deleterious(0)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Gln1174His,ENST00000507625,;LPHN3,missense_variant,p.Gln1115His,ENST00000508946,;LPHN3,missense_variant,p.Gln1106His,ENST00000506700,;LPHN3,missense_variant,p.Gln564His,ENST00000502815,;LPHN3,missense_variant,p.Gln1183His,ENST00000509896,;LPHN3,missense_variant,p.Gln1174His,ENST00000511324,;LPHN3,missense_variant,p.Gln1115His,ENST00000545650,;LPHN3,missense_variant,p.Gln1183His,ENST00000506720,;LPHN3,missense_variant,p.Gln1115His,ENST00000504896,;LPHN3,missense_variant,p.Gln1115His,ENST00000514591,;LPHN3,missense_variant,p.Gln1183His,ENST00000508693,;LPHN3,missense_variant,p.Gln1174His,ENST00000506746,;LPHN3,missense_variant,p.Gln1106His,ENST00000514996,;LPHN3,missense_variant,p.Gln1115His,ENST00000512091,;LPHN3,missense_variant,p.Gln1106His,ENST00000514157,;LPHN3,missense_variant,p.Gln1174His,ENST00000507164,;	3674	121	77	SUCCESS
PCGF3	10336	.	GRCh37	4	728388	728388	+	intron_variant	Intron	SNP	A	A	G	rs772226268	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	10	0	ENST00000362003.5:c.110-332A>G		p.*37*	ENST00000362003	NM_006315.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3339.2	.	MUTECT|MUSE	.	AAAGTATTGTA	NONE	.	.	.	.	.	ENSP00000354724	.	.	.	.	.	.	.	.	.	.	rs772226268	.	PASS	ENST00000362003	Transcript	.	.	ENSG00000185619	10066	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCGF3_HUMAN	PCGF3	HGNC	C9JYD0_HUMAN,C9JGV3_HUMAN,C9J3G7_HUMAN,B4DTN5_HUMAN	.	UPI00001A9628	SNV	PCGF3,5_prime_UTR_variant,,ENST00000521023,;PCGF3,intron_variant,,ENST00000427463,;PCGF3,intron_variant,,ENST00000419774,;PCGF3,intron_variant,,ENST00000505655,;PCGF3,intron_variant,,ENST00000362003,;PCGF3,intron_variant,,ENST00000433814,;PCGF3,intron_variant,,ENST00000470161,;PCGF3,downstream_gene_variant,,ENST00000400151,;PCGF3,intron_variant,,ENST00000482726,;PCGF3,3_prime_UTR_variant,,ENST00000440452,;PCGF3,3_prime_UTR_variant,,ENST00000430644,;PCGF3,intron_variant,,ENST00000484141,;PCGF3,downstream_gene_variant,,ENST00000475288,;	.	10	9	SUCCESS
FRAS1	80144	.	GRCh37	4	79360143	79360143	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	67	0	ENST00000264895.6:c.5454T>C	p.Asp1818=	p.D1818=	ENST00000264895	NM_025074.6	1818	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS54771.1	5454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATAATCA	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	40/74	.	.	.	.	.	.	.	.	.	40/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,synonymous_variant,p.%3D,ENST00000512123,;FRAS1,synonymous_variant,p.%3D,ENST00000510944,;FRAS1,synonymous_variant,p.%3D,ENST00000325942,;FRAS1,synonymous_variant,p.%3D,ENST00000264895,;	5894	67	49	SUCCESS
MATR3	9782	.	GRCh37	5	138658499	138658499	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs139589527	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	201	331	0	ENST00000394805.3:c.1991A>C	p.Glu664Ala	p.E664A	ENST00000394805	NM_001194955.1	664	gAa/gCa	0	C:0.0009	C:0	.	C:0	.	C	E/A	protein_coding	YES	CCDS4210.1	1991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGAAGCAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15592	C:0.001	C:0.0003	ENSP00000378284	C:0	12/15	.	.	.	.	.	.	.	.	rs139589527	12/15	PASS	ENST00000394805	Transcript	1	C:0.0002	ENSG00000015479	6912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	C:0	tolerated(0.12)	.	MATR3_HUMAN	MATR3	HGNC	Q9H4N1_HUMAN,D6REK4_HUMAN,D6RE02_HUMAN,D6RCM3_HUMAN,D6RBS2_HUMAN,D6RBK5_HUMAN,D6RBI2_HUMAN,D6RB45_HUMAN,D6RAY2_HUMAN,D6RAM9_HUMAN,D6R9F3_HUMAN,D6R991_HUMAN,D6R8Z5_HUMAN,B3KM87_HUMAN	.	UPI0000000DEE	SNV	MATR3,missense_variant,p.Glu664Ala,ENST00000502929,;MATR3,missense_variant,p.Glu664Ala,ENST00000510056,;MATR3,missense_variant,p.Glu664Ala,ENST00000394800,;MATR3,missense_variant,p.Glu376Ala,ENST00000503811,;MATR3,missense_variant,p.Glu326Ala,ENST00000502499,;MATR3,missense_variant,p.Glu664Ala,ENST00000394805,;MATR3,missense_variant,p.Glu664Ala,ENST00000509990,;MATR3,missense_variant,p.Glu326Ala,ENST00000504203,;MATR3,missense_variant,p.Glu664Ala,ENST00000361059,;MATR3,downstream_gene_variant,,ENST00000512876,;MATR3,downstream_gene_variant,,ENST00000511249,;MATR3,downstream_gene_variant,,ENST00000504311,;MATR3,downstream_gene_variant,,ENST00000515833,;MATR3,downstream_gene_variant,,ENST00000509918,;MATR3,downstream_gene_variant,,ENST00000511978,;MATR3,missense_variant,p.Glu22Ala,ENST00000512040,;MATR3,non_coding_transcript_exon_variant,,ENST00000502422,;MATR3,non_coding_transcript_exon_variant,,ENST00000504643,;MATR3,non_coding_transcript_exon_variant,,ENST00000505625,;MATR3,downstream_gene_variant,,ENST00000502944,;	2326	331	350	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140857013	140857013	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	71	140	0	ENST00000308177.3:c.1330C>T	p.Arg444Cys	p.R444C	ENST00000308177	NM_002588.2	444	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS4261.1	1330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGCGTGTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	COSM205276,COSM205277	1/4	PASS	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.606)	.	tolerated(0.17)	1,1	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	SNV	PCDHGC3,missense_variant,p.Arg444Cys,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	1434	140	119	SUCCESS
TCERG1	10915	.	GRCh37	5	145890029	145890029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	95	1	ENST00000296702.5:c.3121G>T	p.Asp1041Tyr	p.D1041Y	ENST00000296702	NM_006706.3	1041	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4282.1	3121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGATCAG	NONE	.	.	SMART_domains:SM00441,Gene3D:1uzcA00,Pfam_domain:PF01846,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF7,PROSITE_profiles:PS51676	.	.	ENSP00000296702	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000296702	Transcript	.	.	ENSG00000113649	15630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	TCRG1_HUMAN	TCERG1	HGNC	.	.	UPI000013E374	SNV	TCERG1,missense_variant,p.Asp1041Tyr,ENST00000296702,;TCERG1,missense_variant,p.Asp1020Tyr,ENST00000394421,;GPR151,downstream_gene_variant,,ENST00000311104,;TCERG1,downstream_gene_variant,,ENST00000503741,;TCERG1,downstream_gene_variant,,ENST00000514567,;TCERG1,3_prime_UTR_variant,,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000511077,;TCERG1,non_coding_transcript_exon_variant,,ENST00000506524,;TCERG1,downstream_gene_variant,,ENST00000514719,;	3159	96	91	SUCCESS
TCOF1	6949	.	GRCh37	5	149758589	149758589	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	78	180	0	ENST00000377797.3:c.2462A>G	p.Gln821Arg	p.Q821R	ENST00000377797	NM_001135243.1	821	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS54936.1	2462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCAGAGGT	NONE	.	.	hmmpanther:PTHR20787,Pfam_domain:PF03546	.	.	ENSP00000421655	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000504761	Transcript	1	.	ENSG00000070814	11654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	tolerated(0.54)	.	TCOF_HUMAN	TCOF1	HGNC	Q9UFD4_HUMAN	.	UPI0000EE3736	SNV	TCOF1,missense_variant,p.Gln821Arg,ENST00000427724,;TCOF1,missense_variant,p.Gln821Arg,ENST00000513346,;TCOF1,missense_variant,p.Gln821Arg,ENST00000394269,;TCOF1,missense_variant,p.Gln821Arg,ENST00000439160,;TCOF1,missense_variant,p.Gln821Arg,ENST00000377797,;TCOF1,missense_variant,p.Gln821Arg,ENST00000451292,;TCOF1,missense_variant,p.Gln744Arg,ENST00000445265,;TCOF1,missense_variant,p.Gln744Arg,ENST00000323668,;TCOF1,missense_variant,p.Gln821Arg,ENST00000504761,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,upstream_gene_variant,,ENST00000513538,;TCOF1,non_coding_transcript_exon_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,upstream_gene_variant,,ENST00000506767,;	2462	180	136	SUCCESS
HCN1	348980	.	GRCh37	5	45267245	45267245	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	40	122	0	ENST00000303230.4:c.1729C>A	p.Pro577Thr	p.P577T	ENST00000303230	NM_021072.3	577	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3952.1	1729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGGATATT	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Pfam_domain:PF00027,Gene3D:2.60.120.10,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217,PROSITE_profiles:PS50042	.	.	ENSP00000307342	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Pro577Thr,ENST00000303230,;	1787	122	140	SUCCESS
HCN1	348980	.	GRCh37	5	45645564	45645564	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	93	0	ENST00000303230.4:c.572T>C	p.Ile191Thr	p.I191T	ENST00000303230	NM_021072.3	191	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3952.1	572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGATCAGG	NONE	.	.	Prints_domain:PR01463,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217	.	.	ENSP00000307342	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.339)	.	deleterious(0)	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Ile191Thr,ENST00000303230,;	630	93	104	SUCCESS
PIK3R1	5295	.	GRCh37	5	67576424	67576424	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	83	163	0	ENST00000274335.5:c.703C>T	p.Gln235Ter	p.Q235*	ENST00000274335		235	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3993.1	703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCAGTAT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR10155:SF3,hmmpanther:PTHR10155,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000428056	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000521381	Transcript	1	.	ENSG00000145675	8979	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P85A_HUMAN	PIK3R1	HGNC	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN	.	UPI000013D9FF	SNV	PIK3R1,stop_gained,p.Gln235Ter,ENST00000274335,;PIK3R1,stop_gained,p.Gln235Ter,ENST00000521381,;PIK3R1,stop_gained,p.Gln235Ter,ENST00000396611,;PIK3R1,stop_gained,p.Gln235Ter,ENST00000521657,;PIK3R1,5_prime_UTR_variant,,ENST00000523807,;PIK3R1,5_prime_UTR_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000520675,;	1319	163	148	SUCCESS
SLC22A2	6582	.	GRCh37	6	160677694	160677694	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	123	0	ENST00000366953.3:c.470A>G	p.Asn157Ser	p.N157S	ENST00000366953	NM_003058.3	157	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS5276.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACATTCACT	NONE	.	.	Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,Pfam_domain:PF00083,hmmpanther:PTHR24064:SF173,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	.	.	ENSP00000355920	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000366953	Transcript	.	.	ENSG00000112499	10966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	deleterious(0.03)	.	S22A2_HUMAN	SLC22A2	HGNC	Q5T7Q5_HUMAN	.	UPI000013D5BB	SNV	SLC22A2,missense_variant,p.Asn136Ser,ENST00000366952,;SLC22A2,missense_variant,p.Asn157Ser,ENST00000366953,;SLC22A2,intron_variant,,ENST00000491092,;SLC22A2,downstream_gene_variant,,ENST00000489644,;	729	123	118	SUCCESS
TREM1	54210	.	GRCh37	6	41250225	41250225	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	14	77	0	ENST00000244709.4:c.314T>C	p.Val105Ala	p.V105A	ENST00000244709	NM_018643.3	105	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS4854.1	314	MUTECT|MUSE|VARSCANS	.	CTTCCACTTGA	NONE	.	.	hmmpanther:PTHR19357:SF1,hmmpanther:PTHR19357,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000244709	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000244709	Transcript	.	.	ENSG00000124731	17760	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.652)	.	tolerated(0.11)	.	TREM1_HUMAN	TREM1	HGNC	Q38L15_HUMAN	.	UPI0000047FA9	SNV	TREM1,missense_variant,p.Val105Ala,ENST00000334475,;TREM1,missense_variant,p.Val105Ala,ENST00000244709,;TREM1,missense_variant,p.Val105Ala,ENST00000589614,;TREM1,missense_variant,p.Val105Ala,ENST00000591620,;TREM1,non_coding_transcript_exon_variant,,ENST00000586287,;TREM1,upstream_gene_variant,,ENST00000589695,;TREM1,upstream_gene_variant,,ENST00000589882,;	378	77	159	SUCCESS
TOMM6	100188893	.	GRCh37	6	41757064	41757064	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	17	65	0	ENST00000398881.3:c.223T>C	p.Ter75GlnextTer32	p.*75Qext*32	ENST00000398881		75	Tag/Cag	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS47424.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGTAGCCA	NONE	.	.	.	.	.	ENSP00000381859	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000398884	Transcript	.	.	ENSG00000214736	34528	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM6_HUMAN	TOMM6	HGNC	.	.	UPI00000527B0	SNV	TOMM6,stop_lost,p.Ter75GlnextTer32,ENST00000398881,;TOMM6,stop_lost,p.Ter75GlnextTer13,ENST00000398884,;PRICKLE4,downstream_gene_variant,,ENST00000394263,;PRICKLE4,downstream_gene_variant,,ENST00000359201,;FRS3,upstream_gene_variant,,ENST00000422888,;PRICKLE4,downstream_gene_variant,,ENST00000394259,;PRICKLE4,downstream_gene_variant,,ENST00000394260,;USP49,downstream_gene_variant,,ENST00000394253,;PRICKLE4,downstream_gene_variant,,ENST00000458694,;RP11-298J23.9,upstream_gene_variant,,ENST00000594586,;PRICKLE4,downstream_gene_variant,,ENST00000463606,;PRICKLE4,3_prime_UTR_variant,,ENST00000335515,;PRICKLE4,3_prime_UTR_variant,,ENST00000456057,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000487182,;PRICKLE4,downstream_gene_variant,,ENST00000483200,;	259	65	122	SUCCESS
PCOLCE-AS1	100129845	.	GRCh37	7	100187289	100187289	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs766541851	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	16	170	0	ENST00000442166.2:n.2273C>T		p.*758*	ENST00000442166		9		0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS5699.2	26	MUTECT|MUSE|VARSCANS	.	GGAACGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846	.	.	ENSP00000416558	.	1/10	.	.	.	.	.	.	.	.	rs766541851,COSM1446587,COSM1488016,COSM451977	1/10	PASS	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	unknown(0)	.	deleterious_low_confidence(0)	0,1,1,1	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,missense_variant,p.Arg9Gln,ENST00000427939,;FBXO24,intron_variant,,ENST00000360609,;FBXO24,intron_variant,,ENST00000465843,;FBXO24,intron_variant,,ENST00000466053,;FBXO24,intron_variant,,ENST00000461079,;FBXO24,intron_variant,,ENST00000241071,;FBXO24,intron_variant,,ENST00000468962,;LRCH4,upstream_gene_variant,,ENST00000310300,;LRCH4,upstream_gene_variant,,ENST00000497245,;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000442166,;PCOLCE-AS1,downstream_gene_variant,,ENST00000544873,;FBXO24,intron_variant,,ENST00000498195,;FBXO24,intron_variant,,ENST00000488079,;FBXO24,intron_variant,,ENST00000474649,;LRCH4,upstream_gene_variant,,ENST00000485583,;	38	170	195	SUCCESS
EPHB4	2050	.	GRCh37	7	100420008	100420008	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	57	98	0	ENST00000358173.3:c.693T>A	p.Pro231=	p.P231=	ENST00000358173	NM_004444.4	231	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5706.1	693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCAGGGGC	NONE	.	.	hmmpanther:PTHR24416:SF296,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000350896	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000358173	Transcript	.	.	ENSG00000196411	3395	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHB4_HUMAN	EPHB4	HGNC	Q541P7_HUMAN	.	UPI0000000DBB	SNV	EPHB4,synonymous_variant,p.%3D,ENST00000360620,;EPHB4,synonymous_variant,p.%3D,ENST00000358173,;RN7SL750P,upstream_gene_variant,,ENST00000582814,;EPHB4,non_coding_transcript_exon_variant,,ENST00000489808,;EPHB4,non_coding_transcript_exon_variant,,ENST00000477446,;SLC12A9,upstream_gene_variant,,ENST00000461016,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,upstream_gene_variant,,ENST00000492878,;	1162	98	136	SUCCESS
GCC1	79571	.	GRCh37	7	127225186	127225186	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	45	59	0	ENST00000321407.2:c.51G>A	p.Leu17=	p.L17=	ENST00000321407	NM_024523.5	17	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5796.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCAAGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25	.	.	ENSP00000318821	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000321407	Transcript	.	.	ENSG00000179562	19095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCC1_HUMAN	GCC1	HGNC	A4D0Z4_HUMAN	.	UPI0000072BA8	SNV	GCC1,synonymous_variant,p.%3D,ENST00000321407,;ARF5,upstream_gene_variant,,ENST00000000233,;ARF5,upstream_gene_variant,,ENST00000415666,;GCC1,intron_variant,,ENST00000497650,;ARF5,upstream_gene_variant,,ENST00000467281,;ARF5,upstream_gene_variant,,ENST00000459680,;ARF5,upstream_gene_variant,,ENST00000463733,;ARF5,upstream_gene_variant,,ENST00000489673,;	476	59	94	SUCCESS
ZNF282	8427	.	GRCh37	7	148895528	148895528	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	65	85	0	ENST00000262085.3:c.269A>T	p.Gln90Leu	p.Q90L	ENST00000262085	NM_003575.2	90	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5895.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCAGTTGC	NONE	.	.	.	.	.	ENSP00000262085	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000262085	Transcript	.	.	ENSG00000170265	13076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	deleterious(0)	.	ZN282_HUMAN	ZNF282	HGNC	Q86YG2_HUMAN	.	UPI000013D255	SNV	ZNF282,missense_variant,p.Gln90Leu,ENST00000479907,;ZNF282,missense_variant,p.Gln90Leu,ENST00000262085,;	374	85	129	SUCCESS
MYO1G	64005	.	GRCh37	7	45005789	45005789	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	30	0	ENST00000258787.7:c.2040G>T	p.Leu680=	p.L680=	ENST00000258787	NM_033054.2	680	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34629.1	2040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAGCCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000258787	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000258787	Transcript	.	.	ENSG00000136286	13880	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO1G_HUMAN	MYO1G	HGNC	.	.	UPI00001D747C	SNV	MYO1G,synonymous_variant,p.%3D,ENST00000258787,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,downstream_gene_variant,,ENST00000464434,;MYO1G,downstream_gene_variant,,ENST00000480503,;	2177	30	53	SUCCESS
PON3	5446	.	GRCh37	7	94996796	94996796	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	77	0	ENST00000265627.5:c.372T>A	p.Asn124Lys	p.N124K	ENST00000265627	NM_000940.2	124	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS5639.1	372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTATTGTC	NONE	.	.	hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF6,Gene3D:2.120.10.30,Superfamily_domains:SSF63829	.	.	ENSP00000265627	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000265627	Transcript	.	.	ENSG00000105852	9206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	PON3_HUMAN	PON3	HGNC	.	.	UPI00000743F1	SNV	PON3,missense_variant,p.Asn124Lys,ENST00000265627,;PON3,missense_variant,p.Asn124Lys,ENST00000451904,;PON3,missense_variant,p.Asn124Lys,ENST00000427422,;PON1,intron_variant,,ENST00000542556,;PON3,3_prime_UTR_variant,,ENST00000456855,;PON3,3_prime_UTR_variant,,ENST00000442770,;PON3,non_coding_transcript_exon_variant,,ENST00000482624,;PON3,intron_variant,,ENST00000418617,;PON3,upstream_gene_variant,,ENST00000492800,;PON3,upstream_gene_variant,,ENST00000460248,;	383	77	128	SUCCESS
ZNF696	79943	.	GRCh37	8	144375190	144375190	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	108	0	ENST00000330143.3:c.19C>G	p.Pro7Ala	p.P7A	ENST00000330143	NM_030895.2	7	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS6399.1	19	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCCCACA	NONE	.	.	.	.	.	ENSP00000328515	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000330143	Transcript	.	.	ENSG00000185730	25872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	tolerated_low_confidence(1)	.	ZN696_HUMAN	ZNF696	HGNC	E5RG39_HUMAN,E5RFI7_HUMAN	.	UPI000013E0BC	SNV	ZNF696,missense_variant,p.Pro7Ala,ENST00000520333,;ZNF696,missense_variant,p.Pro7Ala,ENST00000521537,;ZNF696,missense_variant,p.Pro23Ala,ENST00000523891,;ZNF696,missense_variant,p.Pro7Ala,ENST00000330143,;ZNF696,missense_variant,p.Pro7Ala,ENST00000518432,;ZNF696,missense_variant,p.Pro7Ala,ENST00000518575,;RP13-582O9.7,upstream_gene_variant,,ENST00000607376,;	428	108	115	SUCCESS
EXTL3	2137	.	GRCh37	8	28573960	28573960	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	62	0	ENST00000220562.4:c.384G>T	p.Leu128=	p.L128=	ENST00000220562	NM_001440.3	128	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6070.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGCTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57	.	.	ENSP00000220562	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000220562	Transcript	.	.	ENSG00000012232	3518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXTL3_HUMAN	EXTL3	HGNC	E5RIV6_HUMAN,B4DG91_HUMAN	.	UPI000012A35D	SNV	EXTL3,synonymous_variant,p.%3D,ENST00000220562,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,intron_variant,,ENST00000523149,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,upstream_gene_variant,,ENST00000522698,;	1286	62	55	SUCCESS
PRKDC	5591	.	GRCh37	8	48848294	48848294	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	57	133	0	ENST00000314191.2:c.1445T>A	p.Val482Glu	p.V482E	ENST00000314191	NM_006904.6	482	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	.	1445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCACAGTA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	13/87	.	.	.	.	.	.	.	.	.	13/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Val482Glu,ENST00000338368,;PRKDC,missense_variant,p.Val482Glu,ENST00000314191,;PRKDC,splice_region_variant,,ENST00000518216,;PRKDC,splice_region_variant,,ENST00000523565,;PRKDC,downstream_gene_variant,,ENST00000535375,;	1502	133	114	SUCCESS
PREX2	80243	.	GRCh37	8	69046429	69046429	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	101	0	ENST00000288368.4:c.3902G>C	p.Trp1301Ser	p.W1301S	ENST00000288368	NM_024870.2	1301	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS6201.1	3902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGGGAAG	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	32/40	.	.	.	.	.	.	.	.	.	32/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.09)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Trp1301Ser,ENST00000288368,;	4179	101	101	SUCCESS
ANP32B	10541	.	GRCh37	9	100745670	100745670	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	53	0	ENST00000339399.4:c.-164del		p.*55*	ENST00000339399	NM_006401.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6732.1	.	INDELOCATOR*|PINDEL	.	GGCTCCGGGGGC	NONE	.	.	.	.	.	ENSP00000345848	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000339399	Transcript	.	.	ENSG00000136938	16677	4	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AN32B_HUMAN	ANP32B	HGNC	Q5T6W8_HUMAN,Q53F35_HUMAN	.	UPI0000125029	deletion	ANP32B,5_prime_UTR_variant,,ENST00000339399,;RP11-535C21.3,downstream_gene_variant,,ENST00000411981,;ANP32B,upstream_gene_variant,,ENST00000473205,;	28	53	66	SUCCESS
MAMDC2	256691	.	GRCh37	9	72723289	72723289	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	106	0	ENST00000377182.4:c.311T>A	p.Met104Lys	p.M104K	ENST00000377182	NM_153267.4	104	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS6631.1	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACATGAGAT	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000366387	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000377182	Transcript	.	.	ENSG00000165072	23673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.07)	.	MAMC2_HUMAN	MAMDC2	HGNC	.	.	UPI000013E44F	SNV	MAMDC2,missense_variant,p.Met104Lys,ENST00000377182,;MAMDC2-AS1,intron_variant,,ENST00000591368,;MAMDC2-AS1,intron_variant,,ENST00000414515,;	928	106	83	SUCCESS
WNK3	65267	.	GRCh37	X	54264775	54264776	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	69	0	ENST00000354646.2:c.4013_4014del	p.Gln1338ArgfsTer25	p.Q1338Rfs*25	ENST00000354646	NM_020922.4	1338	cAG/c	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS14357.1	4013-4014	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAACCTGGAAC	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	.	.	ENSP00000346667	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000354646	Transcript	.	.	ENSG00000196632	14543	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WNK3_HUMAN	WNK3	HGNC	B1AQN8_HUMAN	.	UPI00001AF003	deletion	WNK3,frameshift_variant,p.Gln1338ArgfsTer25,ENST00000375159,;WNK3,frameshift_variant,p.Gln1338ArgfsTer25,ENST00000354646,;WNK3,frameshift_variant,p.Gln1291ArgfsTer25,ENST00000375169,;	4452-4453	69	110	SUCCESS
CALHM2	51063	.	GRCh37	10	105209604	105209604	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777105138	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	81	121	1	ENST00000260743.5:c.95C>T	p.Thr32Met	p.T32M	ENST00000260743	NM_015916.4	32	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS7549.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGTGCCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF3,Pfam_domain:PF14798	.	.	ENSP00000260743	.	3/4	.	.	.	.	.	.	.	.	rs777105138	3/4	PASS	ENST00000260743	Transcript	.	.	ENSG00000138172	23493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	CAHM2_HUMAN	CALHM2	HGNC	.	.	UPI0000070F1F	SNV	CALHM2,missense_variant,p.Thr32Met,ENST00000369788,;CALHM2,missense_variant,p.Thr32Met,ENST00000393235,;CALHM2,missense_variant,p.Thr32Met,ENST00000260743,;CALHM1,downstream_gene_variant,,ENST00000329905,;PDCD11,downstream_gene_variant,,ENST00000369797,;RP11-225H22.7,upstream_gene_variant,,ENST00000608063,;RP11-225H22.4,upstream_gene_variant,,ENST00000411906,;CALHM2,non_coding_transcript_exon_variant,,ENST00000463878,;CALHM2,non_coding_transcript_exon_variant,,ENST00000494180,;CALHM2,downstream_gene_variant,,ENST00000474797,;CALHM2,downstream_gene_variant,,ENST00000480642,;CALHM2,downstream_gene_variant,,ENST00000461631,;PDCD11,downstream_gene_variant,,ENST00000478543,;	619	122	169	SUCCESS
TFAM	7019	.	GRCh37	10	60145257	60145257	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	22	0	ENST00000487519.1:c.-51C>T		p.*17*	ENST00000487519	NM_003201.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCCAGGAG	NONE	.	.	.	.	.	ENSP00000420588	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000487519	Transcript	.	.	ENSG00000108064	11741	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFAM_HUMAN	TFAM	HGNC	E5KSU5_HUMAN	.	UPI0000136C5F	SNV	TFAM,5_prime_UTR_variant,,ENST00000373895,;TFAM,5_prime_UTR_variant,,ENST00000487519,;TFAM,upstream_gene_variant,,ENST00000395377,;TFAM,non_coding_transcript_exon_variant,,ENST00000373899,;	476	22	30	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75548868	75548868	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	58	0	ENST00000605216.1:c.377T>C	p.Leu126Pro	p.L126P	ENST00000605216	NM_001242487.1	126	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS44440.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGGCCA	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,missense_variant,p.Leu126Pro,ENST00000605216,;ZSWIM8,missense_variant,p.Leu126Pro,ENST00000604729,;ZSWIM8,missense_variant,p.Leu126Pro,ENST00000398706,;ZSWIM8,missense_variant,p.Leu126Pro,ENST00000604524,;ZSWIM8,missense_variant,p.Leu126Pro,ENST00000603114,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000451629,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,missense_variant,p.Leu126Pro,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000492395,;ZSWIM8,downstream_gene_variant,,ENST00000446546,;	594	58	97	SUCCESS
IFIT3	3437	.	GRCh37	10	91098522	91098542	+	inframe_deletion	In_Frame_Del	DEL	GAGTGTGTAACCAGATTGAAT	GAGTGTGTAACCAGATTGAAT	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	GAGTGTGTAACCAGATTGAAT	GAGTGTGTAACCAGATTGAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	157	49	159	0	ENST00000371811.4:c.110_130del	p.Arg37_Phe44delinsIle	p.R37_F44delinsI	ENST00000371811	NM_001031683.2	37	aGAGTGTGTAACCAGATTGAATtt/att	0	.	.	.	.	.	-	RVCNQIEF/I	protein_coding	YES	CCDS7402.1	110-130	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGATAGAGTGTGTAACCAGATTGAATTTTTA	NONE	.	.	hmmpanther:PTHR10271:SF3,hmmpanther:PTHR10271	.	.	ENSP00000360883	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371818	Transcript	.	.	ENSG00000119917	5411	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFIT3_HUMAN	IFIT3	HGNC	Q5T765_HUMAN,B4DLS7_HUMAN	.	UPI000012D3E5	deletion	IFIT3,inframe_deletion,p.Arg37_Phe44delinsIle,ENST00000371811,;IFIT3,inframe_deletion,p.Arg37_Phe44delinsIle,ENST00000371818,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000489359,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	290-310	159	206	SUCCESS
NFRKB	4798	.	GRCh37	11	129754016	129754016	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	55	0	ENST00000446488.3:c.765T>C	p.Ser255=	p.S255=	ENST00000446488	NM_001143835.1	255	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS8483.1	840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCACTGTC	NONE	.	.	hmmpanther:PTHR13052	.	.	ENSP00000436926	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	SNV	NFRKB,synonymous_variant,p.%3D,ENST00000524794,;NFRKB,synonymous_variant,p.%3D,ENST00000446488,;NFRKB,synonymous_variant,p.%3D,ENST00000524746,;NFRKB,synonymous_variant,p.%3D,ENST00000304521,;NFRKB,synonymous_variant,p.%3D,ENST00000531755,;NFRKB,downstream_gene_variant,,ENST00000532225,;NFRKB,downstream_gene_variant,,ENST00000526940,;NFRKB,downstream_gene_variant,,ENST00000529319,;NFRKB,downstream_gene_variant,,ENST00000526884,;NFRKB,downstream_gene_variant,,ENST00000530278,;	961	55	86	SUCCESS
RRM1	6240	.	GRCh37	11	4148360	4148360	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	50	95	0	ENST00000300738.5:c.1566A>G	p.Ala522=	p.A522=	ENST00000300738	NM_001033.3	522	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7750.1	1566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCAGAAGC	NONE	.	.	Superfamily_domains:SSF51998,Gene3D:3.20.70.20,Pfam_domain:PF02867,TIGRFAM_domain:TIGR02506,hmmpanther:PTHR11573	.	.	ENSP00000300738	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000300738	Transcript	.	.	ENSG00000167325	10451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIR1_HUMAN	RRM1	HGNC	F5H861_HUMAN,E9PL69_HUMAN,E9PD78_HUMAN,B4DNN4_HUMAN	.	UPI0000000C7C	SNV	RRM1,synonymous_variant,p.%3D,ENST00000423050,;RRM1,synonymous_variant,p.%3D,ENST00000537197,;RRM1,synonymous_variant,p.%3D,ENST00000300738,;RRM1,synonymous_variant,p.%3D,ENST00000534285,;RRM1,downstream_gene_variant,,ENST00000528470,;RRM1,downstream_gene_variant,,ENST00000526304,;RRM1,3_prime_UTR_variant,,ENST00000533495,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,;RRM1,downstream_gene_variant,,ENST00000529109,;RRM1,downstream_gene_variant,,ENST00000531591,;RRM1,downstream_gene_variant,,ENST00000528442,;	1770	95	116	SUCCESS
OR5L1	219437	.	GRCh37	11	55579631	55579631	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753420191	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	69	0	ENST00000333973.2:c.689C>T	p.Ser230Phe	p.S230F	ENST00000333973	NM_001004738.1	230	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS31509.1	689	RADIA|MUTECT|MUSE	.	GGGCTCTGCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	rs753420191,COSM226679	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.992)	.	deleterious(0)	0,1	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Ser230Phe,ENST00000333973,;	778	69	68	SUCCESS
DAK	0	.	GRCh37	11	61111672	61111672	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760930987	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	63	92	0	ENST00000394900.3:c.1167G>T	p.Glu389Asp	p.E389D	ENST00000394900	NM_015533.3	389	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS8003.1	1167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGAACA	NONE	.	.	PROSITE_profiles:PS51480,TIGRFAM_domain:TIGR02361,Superfamily_domains:SSF101473	.	.	ENSP00000378360	.	13/18	.	.	.	.	.	.	.	.	rs760930987	13/18	PASS	ENST00000394900	Transcript	.	.	ENSG00000149476	24552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0.01)	.	DHAK_HUMAN	DAK	HGNC	E9PQR1_HUMAN,E9PJG8_HUMAN	.	UPI00000718B9	SNV	DAK,missense_variant,p.Glu40Asp,ENST00000534084,;DAK,missense_variant,p.Glu388Asp,ENST00000529479,;DAK,missense_variant,p.Glu389Asp,ENST00000394900,;CYB561A3,downstream_gene_variant,,ENST00000426130,;CYB561A3,downstream_gene_variant,,ENST00000294072,;CYB561A3,downstream_gene_variant,,ENST00000447532,;DAK,downstream_gene_variant,,ENST00000532173,;CYB561A3,downstream_gene_variant,,ENST00000540317,;DAK,non_coding_transcript_exon_variant,,ENST00000528061,;DAK,downstream_gene_variant,,ENST00000534134,;CYB561A3,downstream_gene_variant,,ENST00000536452,;DAK,downstream_gene_variant,,ENST00000524953,;DAK,upstream_gene_variant,,ENST00000524440,;DAK,downstream_gene_variant,,ENST00000534370,;DDB1,upstream_gene_variant,,ENST00000540166,;DAK,upstream_gene_variant,,ENST00000530329,;DAK,upstream_gene_variant,,ENST00000525366,;DAK,downstream_gene_variant,,ENST00000533853,;DAK,downstream_gene_variant,,ENST00000529092,;	1396	92	138	SUCCESS
HNRNPUL2	221092	.	GRCh37	11	62484565	62484586	+	frameshift_variant	Frame_Shift_Del	DEL	TTGTACTTAGTGACAATGGGCT	TTGTACTTAGTGACAATGGGCT	GGGCA	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	TTGTACTTAGTGACAATGGGCT	TTGTACTTAGTGACAATGGGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	81	25	96	0	ENST00000301785.5:c.1856_1877delinsTGCCC	p.Gln619LeufsTer26	p.Q619Lfs*26	ENST00000301785	NM_001079559.2	619	cAGCCCATTGTCACTAAGTACAAg/cTGCCCg	0	.	.	.	.	.	GGGCA	QPIVTKYK/LPX	protein_coding	YES	CCDS41659.1	1856-1877	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTCCTTGTACTTAGTGACAATGGGCTGAGCT	NONE	.	.	hmmpanther:PTHR12381:SF43,hmmpanther:PTHR12381	.	.	ENSP00000301785	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000301785	Transcript	.	.	ENSG00000214753	25451	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HNRL2_HUMAN	HNRNPUL2	HGNC	.	.	UPI0000161949	substitution	HNRNPUL2,frameshift_variant,p.Gln619LeufsTer26,ENST00000301785,;HNRNPUL2-BSCL2,frameshift_variant,p.Gln619LeufsTer26,ENST00000403734,;	2049-2070	96	106	SUCCESS
HNRNPUL2	221092	.	GRCh37	11	62484586	62484586	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	79	0	ENST00000301785.5:c.1856A>T	p.Gln619Leu	p.Q619L	ENST00000301785	NM_001079559.2	619	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS41659.1	1856	SOMATICSNIPER|VARSCANS	.	TGGGCTGAGCT	NONE	.	.	hmmpanther:PTHR12381:SF43,hmmpanther:PTHR12381	.	.	ENSP00000301785	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000301785	Transcript	.	.	ENSG00000214753	25451	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.07)	.	HNRL2_HUMAN	HNRNPUL2	HGNC	.	.	UPI0000161949	SNV	HNRNPUL2,missense_variant,p.Gln619Leu,ENST00000301785,;HNRNPUL2-BSCL2,missense_variant,p.Gln619Leu,ENST00000403734,;	2049	79	99	SUCCESS
CHRM1	1128	.	GRCh37	11	62677945	62677945	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1213211267	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	49	0	ENST00000306960.3:c.628C>T	p.Arg210Cys	p.R210C	ENST00000306960	NM_000738.2	210	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8040.1	628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCGCCAGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF216,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306490	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306960	Transcript	.	.	ENSG00000168539	1950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0)	.	ACM1_HUMAN	CHRM1	HGNC	Q96RH1_HUMAN,Q53XZ3_HUMAN,F5GZF8_HUMAN	.	UPI00001252AB	SNV	CHRM1,missense_variant,p.Arg210Cys,ENST00000543973,;CHRM1,missense_variant,p.Arg210Cys,ENST00000306960,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.2,intron_variant,,ENST00000543624,;	1170	49	57	SUCCESS
RSF1	51773	.	GRCh37	11	77409582	77409582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	55	82	0	ENST00000308488.6:c.2665G>T	p.Asp889Tyr	p.D889Y	ENST00000308488		889	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8253.1	2665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATCTGCTA	NONE	.	.	Superfamily_domains:SSF57903,Gene3D:3.30.40.10,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	deleterious(0.01)	.	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	SNV	RSF1,missense_variant,p.Asp889Tyr,ENST00000308488,;RSF1,missense_variant,p.Asp858Tyr,ENST00000360355,;RSF1,missense_variant,p.Asp690Tyr,ENST00000526324,;RSF1,missense_variant,p.Asp637Tyr,ENST00000480887,;RSF1,missense_variant,p.Asp143Tyr,ENST00000532556,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,downstream_gene_variant,,ENST00000528095,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,non_coding_transcript_exon_variant,,ENST00000531768,;	2968	82	138	SUCCESS
ANKRD13A	88455	.	GRCh37	12	110465512	110465512	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	57	78	0	ENST00000261739.4:c.886G>T	p.Asp296Tyr	p.D296Y	ENST00000261739	NM_033121.1	296	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS9140.1	886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCAGACAGG	NONE	.	.	hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4,Pfam_domain:PF11904	.	.	ENSP00000261739	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000261739	Transcript	.	.	ENSG00000076513	21268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	AN13A_HUMAN	ANKRD13A	HGNC	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN	.	UPI000004472C	SNV	ANKRD13A,splice_acceptor_variant,,ENST00000547639,;ANKRD13A,missense_variant,p.Asp296Tyr,ENST00000261739,;ANKRD13A,upstream_gene_variant,,ENST00000551491,;C12orf76,downstream_gene_variant,,ENST00000546651,;ANKRD13A,upstream_gene_variant,,ENST00000547419,;ANKRD13A,splice_region_variant,,ENST00000546476,;ANKRD13A,splice_region_variant,,ENST00000553025,;ANKRD13A,upstream_gene_variant,,ENST00000553251,;ANKRD13A,upstream_gene_variant,,ENST00000549826,;	1052	78	121	SUCCESS
ANAPC7	51434	.	GRCh37	12	110812008	110812008	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	44	0	ENST00000455511.3:c.1741G>A	p.Gly581Ser	p.G581S	ENST00000455511	NM_016238.2	581	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS9145.2	1741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12558:SF8,hmmpanther:PTHR12558	.	.	ENSP00000394394	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000455511	Transcript	.	.	ENSG00000196510	17380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	APC7_HUMAN	ANAPC7	HGNC	Q69YV3_HUMAN,Q4KMX6_HUMAN	.	UPI0000EE28AF	SNV	ANAPC7,missense_variant,p.Gly581Ser,ENST00000455511,;ANAPC7,missense_variant,p.Gly131Ser,ENST00000552087,;ANAPC7,downstream_gene_variant,,ENST00000450008,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000481473,;ANAPC7,downstream_gene_variant,,ENST00000547199,;ANAPC7,downstream_gene_variant,,ENST00000548234,;ANAPC7,downstream_gene_variant,,ENST00000452721,;ANAPC7,downstream_gene_variant,,ENST00000486321,;ANAPC7,downstream_gene_variant,,ENST00000471602,;	1742	44	56	SUCCESS
NCOR2	9612	.	GRCh37	12	124839467	124839467	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	45	0	ENST00000405201.1:c.3400C>T	p.His1134Tyr	p.H1134Y	ENST00000405201		1134	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS41858.2	3400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTGGAGCT	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	25/47	.	.	.	.	.	.	.	.	.	25/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.His1141Tyr,ENST00000356219,;NCOR2,missense_variant,p.His1142Tyr,ENST00000458234,;NCOR2,missense_variant,p.His695Tyr,ENST00000404121,;NCOR2,missense_variant,p.His1124Tyr,ENST00000429285,;NCOR2,missense_variant,p.His1134Tyr,ENST00000405201,;NCOR2,missense_variant,p.His1124Tyr,ENST00000404621,;NCOR2,missense_variant,p.His1125Tyr,ENST00000397355,;NCOR2,non_coding_transcript_exon_variant,,ENST00000536195,;NCOR2,downstream_gene_variant,,ENST00000493859,;	3401	45	71	SUCCESS
EP400NL	0	.	GRCh37	12	132589368	132589386	+	frameshift_variant	Frame_Shift_Del	DEL	AGCAGCAGGTGCTGCAGGG	AGCAGCAGGTGCTGCAGGG	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	AGCAGCAGGTGCTGCAGGG	AGCAGCAGGTGCTGCAGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	96	0	ENST00000443539.2:c.407_425del	p.Gln136ArgfsTer29	p.Q136Rfs*29	ENST00000443539		136	cAGCAGCAGGTGCTGCAGGGg/cg	0	.	.	.	.	.	-	QQQVLQG/X	protein_coding	YES	.	407-425	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCAGCAGCAGCAGGTGCTGCAGGGGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF599	.	.	ENSP00000404338	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000443539	Transcript	.	.	ENSG00000185684	26602	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	E400N_HUMAN	EP400NL	HGNC	F2Z2G7_HUMAN	.	UPI00003E27F2	deletion	EP400NL,frameshift_variant,p.Gln136ArgfsTer29,ENST00000392352,;EP400NL,frameshift_variant,p.Gln199ArgfsTer29,ENST00000389560,;EP400NL,frameshift_variant,p.Gln136ArgfsTer29,ENST00000443539,;EP400NL,frameshift_variant,p.Gln136ArgfsTer29,ENST00000407361,;EP400NL,frameshift_variant,p.Gln268ArgfsTer29,ENST00000376625,;EP400NL,frameshift_variant,p.Gln199ArgfsTer?,ENST00000454179,;EP400NL,intron_variant,,ENST00000361109,;EP400NL,downstream_gene_variant,,ENST00000539205,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,frameshift_variant,p.Gln200ArgfsTer29,ENST00000332441,;EP400NL,frameshift_variant,p.Gln268ArgfsTer29,ENST00000446190,;	948-966	96	95	SUCCESS
KMT2D	8085	.	GRCh37	12	49426793	49426793	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	27	0	ENST00000301067.7:c.11695C>T	p.Gln3899Ter	p.Q3899*	ENST00000301067	NM_003482.3	3899	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS44873.1	11695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGCTGTA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,stop_gained,p.Gln3899Ter,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	11695	27	45	SUCCESS
OR6C2	341416	.	GRCh37	12	55846338	55846338	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	61	1	ENST00000322678.1:c.341C>G	p.Ala114Gly	p.A114G	ENST00000322678	NM_054105.1	114	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS31824.1	341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCAGCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF48,hmmpanther:PTHR26454,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322678	Transcript	.	.	ENSG00000179695	15436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious_low_confidence(0)	.	OR6C2_HUMAN	OR6C2	HGNC	.	.	UPI0000140EC9	SNV	OR6C2,missense_variant,p.Ala114Gly,ENST00000322678,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	341	62	73	SUCCESS
DGKA	1606	.	GRCh37	12	56346653	56346653	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	52	81	0	ENST00000331886.5:c.1879C>G	p.Gln627Glu	p.Q627E	ENST00000331886	NM_001345.4	627	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS8896.1	1879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACCAGGCC	NONE	.	.	SMART_domains:SM00045,Pfam_domain:PF00609,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF38	.	.	ENSP00000328405	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000331886	Transcript	.	.	ENSG00000065357	2849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	tolerated(0.64)	.	DGKA_HUMAN	DGKA	HGNC	G3V4I3_HUMAN,G3V327_HUMAN,F8W1M3_HUMAN,F8W1H7_HUMAN,F8VWX8_HUMAN,F8VNZ9_HUMAN,C9JM35_HUMAN	.	UPI000007417B	SNV	DGKA,missense_variant,p.Gln627Glu,ENST00000394147,;DGKA,missense_variant,p.Gln627Glu,ENST00000331886,;DGKA,missense_variant,p.Gln627Glu,ENST00000551156,;DGKA,incomplete_terminal_codon_variant,p.%3D,ENST00000555218,;PMEL,downstream_gene_variant,,ENST00000550447,;PMEL,downstream_gene_variant,,ENST00000546543,;PMEL,downstream_gene_variant,,ENST00000550464,;PMEL,downstream_gene_variant,,ENST00000539511,;PMEL,downstream_gene_variant,,ENST00000536427,;PMEL,downstream_gene_variant,,ENST00000549404,;DGKA,downstream_gene_variant,,ENST00000552903,;PMEL,downstream_gene_variant,,ENST00000552882,;PMEL,downstream_gene_variant,,ENST00000360714,;PMEL,downstream_gene_variant,,ENST00000548493,;PMEL,downstream_gene_variant,,ENST00000449260,;PMEL,downstream_gene_variant,,ENST00000548747,;PMEL,downstream_gene_variant,,ENST00000547137,;PMEL,downstream_gene_variant,,ENST00000548803,;DGKA,non_coding_transcript_exon_variant,,ENST00000549079,;PMEL,downstream_gene_variant,,ENST00000549564,;DGKA,3_prime_UTR_variant,,ENST00000402956,;DGKA,non_coding_transcript_exon_variant,,ENST00000552478,;DGKA,non_coding_transcript_exon_variant,,ENST00000551739,;DGKA,non_coding_transcript_exon_variant,,ENST00000551296,;DGKA,downstream_gene_variant,,ENST00000553084,;DGKA,upstream_gene_variant,,ENST00000550957,;PMEL,downstream_gene_variant,,ENST00000550762,;PMEL,downstream_gene_variant,,ENST00000556802,;DGKA,upstream_gene_variant,,ENST00000548491,;DGKA,downstream_gene_variant,,ENST00000551585,;	2333	81	121	SUCCESS
LTBR	4055	.	GRCh37	12	6493827	6493827	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	60	0	ENST00000228918.4:c.170del	p.Ile57ThrfsTer39	p.I57Tfs*39	ENST00000228918	NM_002342.2	57	aTc/ac	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS8544.1	170	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCGCATCTGCT	NONE	.	.	PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF28,PROSITE_patterns:PS00652,Pfam_domain:PF00020,Gene3D:2.10.50.10,SMART_domains:SM00208,PIRSF_domain:PIRSF037999,Superfamily_domains:SSF57586	.	.	ENSP00000228918	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000228918	Transcript	.	.	ENSG00000111321	6718	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNR3_HUMAN	LTBR	HGNC	Q75UT6_HUMAN,B3KTD9_HUMAN	.	UPI00001370E3	deletion	LTBR,frameshift_variant,p.Ile57ThrfsTer34,ENST00000536876,;LTBR,frameshift_variant,p.Ile57ThrfsTer39,ENST00000228918,;LTBR,frameshift_variant,p.Ile38ThrfsTer39,ENST00000539925,;LTBR,5_prime_UTR_variant,,ENST00000543190,;LTBR,upstream_gene_variant,,ENST00000541102,;LTBR,non_coding_transcript_exon_variant,,ENST00000546296,;LTBR,non_coding_transcript_exon_variant,,ENST00000542830,;LTBR,upstream_gene_variant,,ENST00000541005,;LTBR,upstream_gene_variant,,ENST00000543542,;LTBR,non_coding_transcript_exon_variant,,ENST00000535739,;LTBR,upstream_gene_variant,,ENST00000544454,;LTBR,upstream_gene_variant,,ENST00000444814,;LTBR,upstream_gene_variant,,ENST00000440421,;LTBR,upstream_gene_variant,,ENST00000545445,;LTBR,upstream_gene_variant,,ENST00000441074,;	496	60	129	SUCCESS
LGR5	8549	.	GRCh37	12	71976321	71976321	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	55	67	0	ENST00000266674.5:c.1636+2T>G		p.X546_splice	ENST00000266674	NM_001277226.1	546		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9000.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTGAGAA	NONE	.	.	.	.	.	ENSP00000266674	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266674	Transcript	.	.	ENSG00000139292	4504	.	.	HIGH	17/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR5_HUMAN	LGR5	HGNC	.	.	UPI000004B65C	SNV	LGR5,splice_donor_variant,,ENST00000536515,;LGR5,splice_donor_variant,,ENST00000266674,;LGR5,splice_donor_variant,,ENST00000540815,;RP11-186F10.2,non_coding_transcript_exon_variant,,ENST00000546601,;LGR5,splice_donor_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	.	67	104	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72017292	72017292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	60	103	0	ENST00000378743.3:c.4592A>G	p.His1531Arg	p.H1531R	ENST00000378743	NM_144982.4	1531	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS41813.1	4592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATGTATG	NONE	.	.	hmmpanther:PTHR21563,Superfamily_domains:SSF48452	.	.	ENSP00000368017	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.His1531Arg,ENST00000378743,;ZFC3H1,missense_variant,p.His1531Arg,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546771,;	4951	103	165	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72017293	72017293	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	60	103	0	ENST00000378743.3:c.4591C>T	p.His1531Tyr	p.H1531Y	ENST00000378743	NM_144982.4	1531	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS41813.1	4591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGTATGT	NONE	.	.	hmmpanther:PTHR21563,Superfamily_domains:SSF48452	.	.	ENSP00000368017	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.His1531Tyr,ENST00000378743,;ZFC3H1,missense_variant,p.His1531Tyr,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546771,;	4950	103	165	SUCCESS
TMTC2	160335	.	GRCh37	12	83289601	83289601	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	68	0	ENST00000321196.3:c.659A>C	p.Lys220Thr	p.K220T	ENST00000321196	NM_152588.1	220	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS9025.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAAGAACT	NONE	.	.	hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083	.	.	ENSP00000322300	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	tolerated(0.06)	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,missense_variant,p.Lys220Thr,ENST00000548305,;TMTC2,missense_variant,p.Lys220Thr,ENST00000321196,;TMTC2,missense_variant,p.Lys214Thr,ENST00000549919,;TMTC2,synonymous_variant,p.%3D,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;	1366	68	92	SUCCESS
NUPL1	0	.	GRCh37	13	25895210	25895210	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	102	181	0	ENST00000381736.3:c.930A>T	p.Lys310Asn	p.K310N	ENST00000381736	NM_014089.3	310	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS9314.1	930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAATTGAA	NONE	.	.	hmmpanther:PTHR13437	.	.	ENSP00000371155	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000381736	Transcript	.	.	ENSG00000139496	20261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	tolerated(0.06)	.	NUPL1_HUMAN	NUPL1	HGNC	.	.	UPI000006D9D4	SNV	NUPL1,missense_variant,p.Lys310Asn,ENST00000463407,;NUPL1,missense_variant,p.Lys310Asn,ENST00000381736,;NUPL1,missense_variant,p.Lys310Asn,ENST00000381747,;NUPL1,missense_variant,p.Lys257Asn,ENST00000394327,;NUPL1,missense_variant,p.Lys298Asn,ENST00000381718,;NUPL1,non_coding_transcript_exon_variant,,ENST00000466694,;NUPL1,downstream_gene_variant,,ENST00000495460,;NUPL1,non_coding_transcript_exon_variant,,ENST00000476553,;	1180	181	252	SUCCESS
PCDH17	27253	.	GRCh37	13	58207758	58207758	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	23	29	0	ENST00000377918.3:c.1078G>A	p.Ala360Thr	p.A360T	ENST00000377918	NM_001040429.2	360	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31986.1	1078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGCGCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF41,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000367151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.28)	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,missense_variant,p.Ala360Thr,ENST00000377918,;PCDH17,missense_variant,p.Ala360Thr,ENST00000484979,;	1104	29	31	SUCCESS
DIAPH3	81624	.	GRCh37	13	60616914	60616914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	53	0	ENST00000400324.4:c.536T>C	p.Phe179Ser	p.F179S	ENST00000400324	NM_001042517.1	179	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS41898.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGAATTCC	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Pfam_domain:PF06371,Superfamily_domains:SSF48371	.	.	ENSP00000383178	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000400324	Transcript	.	.	ENSG00000139734	15480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DIAP3_HUMAN	DIAPH3	HGNC	.	.	UPI0000DAC774	SNV	DIAPH3,missense_variant,p.Phe179Ser,ENST00000400324,;DIAPH3,missense_variant,p.Phe179Ser,ENST00000267215,;DIAPH3,missense_variant,p.Phe109Ser,ENST00000400319,;DIAPH3,missense_variant,p.Phe179Ser,ENST00000400330,;DIAPH3,missense_variant,p.Phe168Ser,ENST00000377908,;DIAPH3,missense_variant,p.Phe133Ser,ENST00000400320,;DIAPH3-AS1,non_coding_transcript_exon_variant,,ENST00000432995,;DIAPH3-AS1,non_coding_transcript_exon_variant,,ENST00000435636,;DIAPH3-AS1,non_coding_transcript_exon_variant,,ENST00000422052,;	757	53	77	SUCCESS
SLC25A47	283600	.	GRCh37	14	100792448	100792448	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	88	136	0	ENST00000361529.3:c.73-46C>T		p.*25*	ENST00000361529	NM_207117.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9959.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCCTAG	NONE	.	.	.	.	.	ENSP00000354886	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361529	Transcript	.	.	ENSG00000140107	20115	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2547_HUMAN	SLC25A47	HGNC	G3V374_HUMAN	.	UPI000004ABFB	SNV	SLC25A47,5_prime_UTR_variant,,ENST00000557052,;SLC25A47,intron_variant,,ENST00000361529,;AL157871.1,upstream_gene_variant,,ENST00000583404,;	.	136	204	SUCCESS
OR4N2	390429	.	GRCh37	14	20296045	20296045	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	103	88	0	ENST00000315947.1:c.438G>A	p.Leu146=	p.L146=	ENST00000315947	NM_001004723.1	146	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32022.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTGGCTCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000319601	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315947	Transcript	.	.	ENSG00000176294	14742	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4N2_HUMAN	OR4N2	HGNC	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN	.	UPI000004A5DF	SNV	OR4N2,synonymous_variant,p.%3D,ENST00000557677,;OR4N2,synonymous_variant,p.%3D,ENST00000315947,;OR4N2,synonymous_variant,p.%3D,ENST00000568211,;OR4N2,downstream_gene_variant,,ENST00000557414,;	438	88	215	SUCCESS
REM2	161253	.	GRCh37	14	23355418	23355418	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	13	82	0	ENST00000267396.4:c.705C>T	p.Arg235=	p.R235=	ENST00000267396	NM_173527.2	235	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS45082.1	705	MUTECT|MUSE	.	GCCCGCTCCCG	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF197,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,PIRSF_domain:PIRSF038017,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000267396	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000267396	Transcript	.	.	ENSG00000139890	20248	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REM2_HUMAN	REM2	HGNC	.	.	UPI00000716C5	SNV	REM2,missense_variant,p.Leu211Phe,ENST00000536884,;REM2,synonymous_variant,p.%3D,ENST00000267396,;LRP10,downstream_gene_variant,,ENST00000359591,;	828	82	246	SUCCESS
C14orf93	60686	.	GRCh37	14	23459032	23459032	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	110	76	0	ENST00000299088.6:c.1003T>G	p.Ser335Ala	p.S335A	ENST00000299088	NM_001130708.1	335	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS9583.1	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGAAATAT	NONE	.	.	hmmpanther:PTHR14375,Pfam_domain:PF15394	.	.	ENSP00000299088	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000299088	Transcript	.	.	ENSG00000100802	20162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.22)	.	CN093_HUMAN	C14orf93	HGNC	J3KPV9_HUMAN,G5E9D9_HUMAN,G3V4W6_HUMAN,G3V4L9_HUMAN,G3V3W0_HUMAN,G3V396_HUMAN,G3V2U2_HUMAN,G3V2P0_HUMAN	.	UPI000000CC08	SNV	C14orf93,missense_variant,p.Ser155Ala,ENST00000397377,;C14orf93,missense_variant,p.Ser335Ala,ENST00000406429,;C14orf93,missense_variant,p.Ser335Ala,ENST00000341470,;C14orf93,missense_variant,p.Ser335Ala,ENST00000397379,;C14orf93,missense_variant,p.Ser335Ala,ENST00000299088,;C14orf93,missense_variant,p.Ser335Ala,ENST00000397382,;RP11-298I3.4,non_coding_transcript_exon_variant,,ENST00000556503,;RP11-298I3.4,non_coding_transcript_exon_variant,,ENST00000557615,;RP11-298I3.4,intron_variant,,ENST00000555294,;	1433	76	237	SUCCESS
RABGGTA	5875	.	GRCh37	14	24737796	24737796	+	synonymous_variant	Silent	SNP	G	G	A	rs370715682	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	49	39	0	ENST00000216840.6:c.930C>T	p.Asn310=	p.N310=	ENST00000216840	NM_182836.2	310	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS45088.1	930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGTTGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF2,Pfam_domain:PF07711,Gene3D:1dceA02,Superfamily_domains:0036346	.	A:0.0001	ENSP00000382341	.	9/16	.	.	.	.	.	.	.	.	rs370715682,COSM2033092	9/16	PASS	ENST00000399409	Transcript	.	.	ENSG00000100949	9795	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PGTA_HUMAN	RABGGTA	HGNC	H0YLG7_HUMAN,D3DS70_HUMAN	.	UPI000013188E	SNV	RABGGTA,synonymous_variant,p.%3D,ENST00000216840,;RABGGTA,synonymous_variant,p.%3D,ENST00000399409,;RABGGTA,intron_variant,,ENST00000560777,;RABGGTA,upstream_gene_variant,,ENST00000560521,;TGM1,upstream_gene_variant,,ENST00000560443,;TGM1,upstream_gene_variant,,ENST00000560478,;TGM1,upstream_gene_variant,,ENST00000561067,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560871,;RABGGTA,downstream_gene_variant,,ENST00000558954,;RABGGTA,downstream_gene_variant,,ENST00000558534,;RABGGTA,downstream_gene_variant,,ENST00000560163,;RABGGTA,downstream_gene_variant,,ENST00000559586,;RABGGTA,synonymous_variant,p.%3D,ENST00000559974,;RABGGTA,synonymous_variant,p.%3D,ENST00000558376,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000543002,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560998,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559551,;RABGGTA,downstream_gene_variant,,ENST00000560207,;RABGGTA,downstream_gene_variant,,ENST00000558936,;RABGGTA,upstream_gene_variant,,ENST00000558649,;RABGGTA,upstream_gene_variant,,ENST00000560243,;RABGGTA,upstream_gene_variant,,ENST00000559850,;RABGGTA,downstream_gene_variant,,ENST00000560127,;RABGGTA,upstream_gene_variant,,ENST00000561055,;	1414	39	101	SUCCESS
CHSY1	22856	.	GRCh37	15	101718463	101718463	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	42	41	0	ENST00000254190.3:c.1539G>C	p.Lys513Asn	p.K513N	ENST00000254190	NM_014918.4	513	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS10390.1	1539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGCTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF16,Pfam_domain:PF05679,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000254190	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254190	Transcript	1	.	ENSG00000131873	17198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.55)	.	CHSS1_HUMAN	CHSY1	HGNC	.	.	UPI000000DB6C	SNV	CHSY1,missense_variant,p.Lys513Asn,ENST00000254190,;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;	2015	41	72	SUCCESS
NIPA2	81614	.	GRCh37	15	23006742	23006743	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	98	69	122	0	ENST00000337451.3:c.561_562del	p.Ile188ArgfsTer46	p.I188Rfs*46	ENST00000337451	NM_030922.6	187	gtAAtc/gttc	0	.	.	.	.	.	-	VI/VX	protein_coding	YES	CCDS10010.1	561-562	VARSCANI*|PINDEL	.	CGCCGATTACAGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12570:SF1,hmmpanther:PTHR12570,Pfam_domain:PF05653	.	.	ENSP00000337618	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000337451	Transcript	.	.	ENSG00000140157	17044	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NIPA2_HUMAN	NIPA2	HGNC	H0YMQ7_HUMAN	.	UPI0000070013	deletion	NIPA2,frameshift_variant,p.Ile188ArgfsTer46,ENST00000398013,;NIPA2,frameshift_variant,p.Ile169ArgfsTer46,ENST00000539711,;NIPA2,frameshift_variant,p.Ile188ArgfsTer46,ENST00000398014,;NIPA2,frameshift_variant,p.Ile188ArgfsTer46,ENST00000337451,;NIPA2,frameshift_variant,p.Ile169ArgfsTer46,ENST00000359727,;CYFIP1,downstream_gene_variant,,ENST00000435939,;CYFIP1,downstream_gene_variant,,ENST00000560848,;CYFIP1,downstream_gene_variant,,ENST00000313077,;CYFIP1,downstream_gene_variant,,ENST00000561020,;	1174-1175	122	167	SUCCESS
DMXL2	23312	.	GRCh37	15	51768790	51768790	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	32	0	ENST00000251076.5:c.6957del	p.Trp2319CysfsTer4	p.W2319Cfs*4	ENST00000251076	NM_015263.3	2319	tgG/tg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS53946.1	6960	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCAGGCCATTG	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	27/43	.	.	.	.	.	.	.	.	.	27/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	deletion	DMXL2,frameshift_variant,p.Trp1683CysfsTer4,ENST00000449909,;DMXL2,frameshift_variant,p.Trp2320CysfsTer4,ENST00000543779,;DMXL2,frameshift_variant,p.Trp445CysfsTer4,ENST00000560891,;DMXL2,frameshift_variant,p.Trp2319CysfsTer4,ENST00000251076,;RP11-707P17.1,intron_variant,,ENST00000561007,;	7050	32	87	SUCCESS
UNC13C	440279	.	GRCh37	15	54306076	54306076	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	74	98	0	ENST00000260323.11:c.976G>A	p.Val326Met	p.V326M	ENST00000260323	NM_001080534.1	326	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS45264.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATGTGACT	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.Val326Met,ENST00000537900,;UNC13C,missense_variant,p.Val326Met,ENST00000545554,;UNC13C,missense_variant,p.Val326Met,ENST00000260323,;	976	98	148	SUCCESS
PARP16	54956	.	GRCh37	15	65559101	65559101	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	91	0	ENST00000261888.6:c.318A>T	p.Glu106Asp	p.E106D	ENST00000261888	NM_017851.4	106	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS10204.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTTTCAAA	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR21328,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	.	.	ENSP00000261888	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000261888	Transcript	.	.	ENSG00000138617	26040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.26)	.	PAR16_HUMAN	PARP16	HGNC	.	.	UPI000035079D	SNV	PARP16,missense_variant,p.Glu106Asp,ENST00000261888,;PARP16,intron_variant,,ENST00000444347,;PARP16,non_coding_transcript_exon_variant,,ENST00000558873,;PARP16,intron_variant,,ENST00000560149,;	764	91	140	SUCCESS
DENND4A	10260	.	GRCh37	15	66015255	66015255	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	50	0	ENST00000431932.2:c.1519A>G	p.Ile507Val	p.I507V	ENST00000431932	NM_005848.3	507	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53949.1	1519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATCTTCC	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.5)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Ile507Val,ENST00000564674,;DENND4A,missense_variant,p.Ile507Val,ENST00000443035,;DENND4A,missense_variant,p.Ile507Val,ENST00000431932,;MIR4511,upstream_gene_variant,,ENST00000582784,;RAB11A,upstream_gene_variant,,ENST00000569304,;DENND4A,non_coding_transcript_exon_variant,,ENST00000568515,;	1735	50	83	SUCCESS
MAN2C1	4123	.	GRCh37	15	75660501	75660501	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759137835	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	63	84	0	ENST00000267978.5:c.140G>T	p.Ser47Ile	p.S47I	ENST00000267978	NM_006715.3	47	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS58391.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCTGGAG	NONE	byFrequency	.	hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607	.	.	ENSP00000457788	.	2/26	.	.	.	.	.	.	.	.	rs759137835	2/26	PASS	ENST00000565683	Transcript	.	.	ENSG00000140400	6827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.39)	.	MA2C1_HUMAN	MAN2C1	HGNC	H3BRV3_HUMAN	.	UPI0000229CBC	SNV	MAN2C1,splice_acceptor_variant,,ENST00000566256,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000565683,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000561615,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000563622,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000267978,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000569482,;MAN2C1,intron_variant,,ENST00000568374,;SIN3A,downstream_gene_variant,,ENST00000394949,;SIN3A,downstream_gene_variant,,ENST00000394947,;SIN3A,downstream_gene_variant,,ENST00000360439,;RP11-817O13.8,non_coding_transcript_exon_variant,,ENST00000563278,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563539,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000421803,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000565784,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000569355,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000562071,;MAN2C1,missense_variant,p.Ser47Ile,ENST00000566634,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565534,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565652,;MAN2C1,intron_variant,,ENST00000563441,;MAN2C1,upstream_gene_variant,,ENST00000569069,;MAN2C1,upstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000565801,;SIN3A,downstream_gene_variant,,ENST00000566640,;MAN2C1,upstream_gene_variant,,ENST00000564785,;MAN2C1,upstream_gene_variant,,ENST00000570257,;	152	84	129	SUCCESS
MVP	9961	.	GRCh37	16	29859235	29859235	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	57	0	ENST00000357402.5:c.2607G>T	p.Gly869=	p.G869=	ENST00000357402	NM_017458.3	869	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10656.1	2607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGGAGGG	NONE	.	.	.	.	.	ENSP00000349977	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000357402	Transcript	.	.	ENSG00000013364	7531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MVP_HUMAN	MVP	HGNC	H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN	.	UPI000012FA9C	SNV	MVP,synonymous_variant,p.%3D,ENST00000395353,;MVP,synonymous_variant,p.%3D,ENST00000357402,;	2745	57	92	SUCCESS
MGRN1	23295	.	GRCh37	16	4702768	4702768	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780003440	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	59	107	1	ENST00000399577.5:c.386G>A	p.Arg129His	p.R129H	ENST00000399577	NM_001142290.2	129	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS42115.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGCGTGG	NONE	byFrequency	.	hmmpanther:PTHR22996,hmmpanther:PTHR22996:SF2	.	.	ENSP00000262370	.	4/17	.	.	.	.	.	.	.	.	rs780003440	4/17	PASS	ENST00000262370	Transcript	.	.	ENSG00000102858	20254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MGRN1_HUMAN	MGRN1	HGNC	K7ERA1_HUMAN	.	UPI000018CE7F	SNV	MGRN1,missense_variant,p.Arg91His,ENST00000591895,;MGRN1,missense_variant,p.Arg129His,ENST00000588994,;MGRN1,missense_variant,p.Arg129His,ENST00000415496,;MGRN1,missense_variant,p.Arg93His,ENST00000590790,;MGRN1,missense_variant,p.Arg129His,ENST00000262370,;MGRN1,missense_variant,p.Arg129His,ENST00000587747,;MGRN1,missense_variant,p.Arg129His,ENST00000399577,;MGRN1,missense_variant,p.Arg129His,ENST00000586183,;MGRN1,missense_variant,p.Arg88His,ENST00000593224,;MGRN1,missense_variant,p.Arg129His,ENST00000536343,;	557	108	158	SUCCESS
CYBA	1535	.	GRCh37	16	88713512	88713512	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	25	0	ENST00000261623.3:c.200G>A	p.Arg67His	p.R67H	ENST00000261623	NM_000101.3	67	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS32504.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCGCTCC	NONE	.	.	hmmpanther:PTHR15168:SF0,hmmpanther:PTHR15168,Pfam_domain:PF05038,PIRSF_domain:PIRSF019635	.	.	ENSP00000261623	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000261623	Transcript	.	.	ENSG00000051523	2577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CY24A_HUMAN	CYBA	HGNC	.	.	UPI000013D1BE	SNV	CYBA,missense_variant,p.Arg67His,ENST00000567174,;CYBA,missense_variant,p.Arg67His,ENST00000568278,;CYBA,missense_variant,p.Arg67His,ENST00000569359,;CYBA,missense_variant,p.Arg67His,ENST00000261623,;CYBA,synonymous_variant,p.%3D,ENST00000566229,;CYBA,upstream_gene_variant,,ENST00000565588,;MVD,downstream_gene_variant,,ENST00000301012,;CYBA,downstream_gene_variant,,ENST00000561972,;CYBA,non_coding_transcript_exon_variant,,ENST00000563526,;CYBA,non_coding_transcript_exon_variant,,ENST00000562209,;CYBA,non_coding_transcript_exon_variant,,ENST00000566534,;MVD,downstream_gene_variant,,ENST00000565149,;	339	25	16	SUCCESS
MYH4	4622	.	GRCh37	17	10350423	10350423	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	51	0	ENST00000255381.2:c.5076C>A	p.Leu1692=	p.L1692=	ENST00000255381	NM_017533.2	1692	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11154.1	5076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGAGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000255381	.	35/40	.	.	.	.	.	.	.	.	.	35/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,synonymous_variant,p.%3D,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5187	51	76	SUCCESS
MYH4	4622	.	GRCh37	17	10363541	10363541	+	synonymous_variant	Silent	SNP	G	G	T	rs1216880885	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	63	97	0	ENST00000255381.2:c.1245C>A	p.Thr415=	p.T415=	ENST00000255381	NM_017533.2	415	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11154.1	1245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGGTTAC	BUFFER|p.E412K|c.1234G>A|3	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000255381	.	13/40	.	.	.	.	.	.	.	.	.	13/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,synonymous_variant,p.%3D,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1356	97	159	SUCCESS
TRPV3	162514	.	GRCh37	17	3417211	3417211	+	stop_retained_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	36	46	0	ENST00000576742.1:c.2373G>A	p.Ter791=	p.*791=	ENST00000576742	NM_145068.3	791	taG/taA	0	.	.	.	.	.	T	*	protein_coding	YES	CCDS58500.1	2376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTCTACAC	NONE	.	.	.	.	.	ENSP00000301365	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000301365	Transcript	.	.	ENSG00000167723	18084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV3_HUMAN	TRPV3	HGNC	.	.	UPI0000200627	SNV	TRPV3,stop_retained_variant,p.%3D,ENST00000301365,;TRPV3,stop_retained_variant,p.%3D,ENST00000576742,;TRPV3,downstream_gene_variant,,ENST00000572519,;SPATA22,upstream_gene_variant,,ENST00000541913,;SPATA22,upstream_gene_variant,,ENST00000570318,;TRPV3,3_prime_UTR_variant,,ENST00000577016,;TRPV3,3_prime_UTR_variant,,ENST00000381913,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;	2508	46	45	SUCCESS
ANKFY1	51479	.	GRCh37	17	4111281	4111281	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	40	64	0	ENST00000341657.4:c.679A>G	p.Lys227Glu	p.K227E	ENST00000341657	NM_016376.3	227	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS58502.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTGATGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	deleterious(0.01)	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,missense_variant,p.Lys227Glu,ENST00000433651,;ANKFY1,missense_variant,p.Lys227Glu,ENST00000574367,;ANKFY1,missense_variant,p.Lys227Glu,ENST00000341657,;ANKFY1,missense_variant,p.Lys269Glu,ENST00000570535,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000573250,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;	922	64	58	SUCCESS
SAMD14	201191	.	GRCh37	17	48194991	48194991	+	synonymous_variant	Silent	SNP	C	C	A	rs748815847	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	47	0	ENST00000330175.4:c.279G>T	p.Pro93=	p.P93=	ENST00000330175	NM_001257359.1	93	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11560.1	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCGGGGA	NONE	.	.	hmmpanther:PTHR16154	.	.	ENSP00000424474	.	4/11	.	.	.	.	.	.	.	.	rs748815847	4/11	PASS	ENST00000503131	Transcript	.	.	ENSG00000167100	27312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAM14_HUMAN	SAMD14	HGNC	.	.	UPI0000074135	SNV	SAMD14,synonymous_variant,p.%3D,ENST00000285206,;SAMD14,synonymous_variant,p.%3D,ENST00000503131,;SAMD14,synonymous_variant,p.%3D,ENST00000330175,;SAMD14,non_coding_transcript_exon_variant,,ENST00000503734,;SAMD14,non_coding_transcript_exon_variant,,ENST00000508892,;SAMD14,upstream_gene_variant,,ENST00000573376,;SAMD14,upstream_gene_variant,,ENST00000515816,;SAMD14,downstream_gene_variant,,ENST00000507043,;	657	47	75	SUCCESS
TP53	7157	.	GRCh37	17	7578477	7578504	+	frameshift_variant	Frame_Shift_Del	DEL	GGGTGTGGAATCAACCCACAGCTGCACA	GGGTGTGGAATCAACCCACAGCTGCACA	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	GGGTGTGGAATCAACCCACAGCTGCACA	GGGTGTGGAATCAACCCACAGCTGCACA	.	.	.	.	.	.	.	.	.	.	.	.	.	14	35	103	0	ENST00000269305.4:c.426_453del	p.Val143ArgfsTer18	p.V143Rfs*18	ENST00000269305	NM_001126112.2	142	ccTGTGCAGCTGTGGGTTGATTCCACACCC/cc	0	.	.	.	.	.	-	PVQLWVDSTP/X	protein_coding	YES	CCDS11118.1	426-453	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCA	CODON|p.0?|c.1_1182del1182|6,CODON|p.P152fs*14|c.454_466del13|5,CODON|p.T150fs*16|c.448_460del13|4,CODON|p.P152fs*18|c.454delC|3,CODON|p.P152fs*29|c.453_454insN|5,CODON|p.P152T|c.454C>A|7,CODON|p.P152S|c.454C>T|24,CODON|p.P151P|c.453C>T|8,CODON|p.P151P|c.453C>G|4,CODON|p.P152fs*18|c.451delC|9,CODON|p.P58H|c.173C>A|6,CODON|p.P151R|c.452C>G|8,CODON|p.P151H|c.452C>A|29,CODON|p.P151H|c.452C>A|6,CODON|p.P19R|c.56C>G|3,CODON|p.P151L|c.452C>T|7,CODON|p.P151H|c.452C>A|6,CODON|p.P19H|c.56C>A|6,CODON|p.P151T|c.451C>A|3,CODON|p.P19T|c.55C>A|3,CODON|p.P58S|c.172C>T|6,CODON|p.P151T|c.451C>A|16,CODON|p.P151A|c.451C>G|14,CODON|p.P151A|c.451C>G|3,CODON|p.P151S|c.451C>T|68,CODON|p.P151S|c.451C>T|6,CODON|p.P58T|c.172C>A|3,CODON|p.P151S|c.451C>T|3,CODON|p.P151A|c.451C>G|7,CODON|p.P151A|c.451C>G|7,CODON|p.P151S|c.451C>T|4,CODON|p.P151T|c.451C>A|3,CODON|p.P19A|c.55C>G|7,CODON|p.P58A|c.172C>G|7,CODON|p.P19S|c.55C>T|6,CODON|p.P151A|c.451C>G|3,CODON|p.P151fs*30|c.450_451insN|5,CODON|p.T150I|c.449C>T|4,CODON|p.S149S|c.447C>T|6,CODON|p.S149F|c.446C>T|5,CODON|p.S149fs*32|c.444_445insN|5,CODON|p.S149P|c.445T>C|4,CODON|p.D148N|c.442G>A|5,CODON|p.V147V|c.441T>G|3,CODON|p.V147G|c.440T>G|8,CODON|p.V147D|c.440T>A|3,CODON|p.V147fs*23|c.439delG|7,CODON|p.V147I|c.439G>A|6,CODON|p.W146*|c.438G>A|5,CODON|p.W146*|c.438G>A|4,CODON|p.W53*|c.159G>A|5,CODON|p.W146*|c.438G>A|34,CODON|p.W146*|c.438G>A|3,CODON|p.W14*|c.42G>A|5,CODON|p.W14*|c.41G>A|9,CODON|p.W146*|c.437G>A|3,CODON|p.W146*|c.437G>A|9,CODON|p.W53*|c.158G>A|9,CODON|p.W146*|c.437G>A|7,CODON|p.W146*|c.437G>A|9,CODON|p.W146*|c.437G>A|43,CODON|p.W146R|c.436T>C|4,CODON|p.L145L|c.435G>A|3,CODON|p.L145R|c.434T>G|7,CODON|p.L145P|c.434T>C|17,CODON|p.L145Q|c.434T>A|19,CODON|p.L145L|c.433C>T|4,CODON|p.Q144H|c.432G>C|3,CODON|p.Q144fs*26|c.430delC|3,CODON|p.Q144R|c.431A>G|5,CODON|p.Q144L|c.431A>T|9,CODON|p.Q144P|c.431A>C|5,CODON|p.Q12*|c.34C>T|10,CODON|p.Q144*|c.430C>T|3,CODON|p.Q144*|c.430C>T|39,CODON|p.Q144*|c.430C>T|10,CODON|p.Q51*|c.151C>T|10,CODON|p.Q144*|c.430C>T|9,CODON|p.Q144*|c.430C>T|3,CODON|p.V11A|c.32T>C|4,CODON|p.V143E|c.428T>A|6,CODON|p.V143A|c.428T>C|3,CODON|p.V143A|c.428T>C|4,CODON|p.V143A|c.428T>C|16,CODON|p.V50A|c.149T>C|4,CODON|p.V143M|c.427G>A|4,CODON|p.V143L|c.427G>T|3,CODON|p.V143M|c.427G>A|3,CODON|p.V143M|c.427G>A|22,CODON|p.V11M|c.31G>A|4,CODON|p.V50M|c.148G>A|4,CODON|p.V143M|c.427G>A|4,BUFFER|p.T155T|c.465C>T|4,BUFFER|p.T155N|c.464C>A|4,BUFFER|p.T155N|c.464C>A|5,BUFFER|p.T62N|c.185C>A|6,BUFFER|p.T155N|c.464C>A|25,BUFFER|p.T155I|c.464C>T|15,BUFFER|p.T23N|c.68C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G61V|c.182G>T|3,BUFFER|p.G22V|c.65G>T|4,BUFFER|p.G154D|c.461G>A|6,BUFFER|p.G154V|c.461G>T|38,BUFFER|p.G154S|c.460G>A|9,BUFFER|p.P153P|c.459C>T|6,BUFFER|p.P153L|c.458C>T|6,BUFFER|p.P153T|c.457C>A|3,BUFFER|p.P153S|c.457C>T|8,BUFFER|p.P153fs*28|c.456_457insN|4,BUFFER|p.P153fs*28|c.455_456insN|3,BUFFER|p.P152fs*18|c.455delC|6,BUFFER|p.P152P|c.456G>A|4,BUFFER|p.P152Q|c.455C>A|5,BUFFER|p.P152L|c.455C>T|70,BUFFER|p.P20L|c.59C>T|10,BUFFER|p.P152L|c.455C>T|10,BUFFER|p.P152R|c.455C>G|6,BUFFER|p.P59L|c.176C>T|10,BUFFER|p.P152L|c.455C>T|10,BUFFER|p.P152L|c.455C>T|4,BUFFER|p.P152L|c.455C>T|3,BUFFER|p.P142H|c.425C>A|3,BUFFER|p.P142L|c.425C>T|8,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C141W|c.423C>G|13,BUFFER|p.C141*|c.423C>A|12,BUFFER|p.C48W|c.144C>G|3,BUFFER|p.C141C|c.423C>T|4,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C9W|c.27C>G|4,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|13,BUFFER|p.C48Y|c.143G>A|13,BUFFER|p.C141F|c.422G>T|4,BUFFER|p.C9Y|c.26G>A|13,BUFFER|p.C141Y|c.422G>A|78,BUFFER|p.C141Y|c.422G>A|12,BUFFER|p.C48R|c.142T>C|8,BUFFER|p.C141G|c.421T>G|3,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.C9R|c.25T>C|8,BUFFER|p.C141R|c.421T>C|22,BUFFER|p.C141R|c.421T>C|6,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.T140T|c.420C>T|6,BUFFER|p.T140I|c.419C>T|11,BUFFER|p.K139K|c.417G>A|7,BUFFER|p.K139N|c.417G>C|6,BUFFER|p.K139N|c.417G>T|5,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139*|c.415A>T|5,BUFFER|p.K7*|c.19A>T|3,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139E|c.415A>G|4,BUFFER|p.K46*|c.136A>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Val143ArgfsTer?,ENST00000508793,;TP53,frameshift_variant,p.Val143ArgfsTer18,ENST00000413465,;TP53,frameshift_variant,p.Val143ArgfsTer18,ENST00000420246,;TP53,frameshift_variant,p.Val143ArgfsTer18,ENST00000269305,;TP53,frameshift_variant,p.Val11ArgfsTer18,ENST00000509690,;TP53,frameshift_variant,p.Val143ArgfsTer18,ENST00000359597,;TP53,frameshift_variant,p.Val50ArgfsTer18,ENST00000514944,;TP53,frameshift_variant,p.Val143ArgfsTer18,ENST00000445888,;TP53,frameshift_variant,p.Val143ArgfsTer18,ENST00000455263,;TP53,coding_sequence_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	616-643	103	49	SUCCESS
YES1	7525	.	GRCh37	18	743374	743375	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	95	60	47	0	ENST00000314574.4:c.765_766del	p.Pro256AsnfsTer26	p.P256Nfs*26	ENST00000314574	NM_005433.3	255	tgTCca/tgca	0	.	.	.	.	.	-	CP/CX	protein_coding	YES	CCDS11824.1	765-766	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTTGGACACAC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF90,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	.	.	ENSP00000462468	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000584307	Transcript	.	.	ENSG00000176105	12841	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	YES_HUMAN	YES1	HGNC	.	.	UPI0000062316	deletion	YES1,frameshift_variant,p.Pro256AsnfsTer26,ENST00000314574,;YES1,frameshift_variant,p.Pro256AsnfsTer26,ENST00000584307,;YES1,frameshift_variant,p.Pro261AsnfsTer26,ENST00000577961,;RP11-769O8.2,downstream_gene_variant,,ENST00000579595,;RP11-769O8.3,upstream_gene_variant,,ENST00000581712,;	936-937	47	155	SUCCESS
VAPA	9218	.	GRCh37	18	9914062	9914062	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	10	0	ENST00000400000.2:c.-192G>C		p.*64*	ENST00000400000	NM_194434.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11847.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGTTGTG	NONE	.	.	.	.	.	ENSP00000345656	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000340541	Transcript	.	.	ENSG00000101558	12648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VAPA_HUMAN	VAPA	HGNC	.	.	UPI000059D45E	SNV	VAPA,5_prime_UTR_variant,,ENST00000340541,;VAPA,5_prime_UTR_variant,,ENST00000400000,;RP11-474N24.6,upstream_gene_variant,,ENST00000609787,;VAPA,upstream_gene_variant,,ENST00000578314,;VAPA,upstream_gene_variant,,ENST00000584796,;VAPA,5_prime_UTR_variant,,ENST00000585042,;VAPA,non_coding_transcript_exon_variant,,ENST00000577901,;	4	10	28	SUCCESS
BEST2	54831	.	GRCh37	19	12865364	12865364	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	37	0	ENST00000042931.1:c.248-2A>G		p.X83_splice	ENST00000042931	NM_017682.2	83		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGGCTT	NONE	.	.	.	.	.	ENSP00000448310	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000549706	Transcript	.	.	ENSG00000039987	17107	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BEST2_HUMAN	BEST2	HGNC	.	.	UPI000007395A	SNV	BEST2,splice_acceptor_variant,,ENST00000549706,;BEST2,splice_acceptor_variant,,ENST00000042931,;BEST2,splice_acceptor_variant,,ENST00000553030,;BEST2,upstream_gene_variant,,ENST00000552539,;	.	37	60	SUCCESS
UNC13A	23025	.	GRCh37	19	17738725	17738725	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780755195	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	17	0	ENST00000519716.2:c.3778C>A	p.Gln1260Lys	p.Q1260K	ENST00000519716	NM_001080421.2	1260	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS46013.2	3778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTGAGTGT	NONE	.	.	hmmpanther:PTHR10480	.	.	ENSP00000429562	.	32/44	.	.	.	.	.	.	.	.	rs780755195,COSM992837,COSM992838	32/44	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.53)	.	deleterious(0)	0,1,1	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,missense_variant,p.Gln1260Lys,ENST00000252773,;UNC13A,missense_variant,p.Gln1260Lys,ENST00000519716,;UNC13A,missense_variant,p.Gln1258Lys,ENST00000550896,;UNC13A,missense_variant,p.Gln1260Lys,ENST00000552293,;UNC13A,missense_variant,p.Gln1260Lys,ENST00000551649,;UNC13A,missense_variant,p.Gln1348Lys,ENST00000428389,;UNC13A,non_coding_transcript_exon_variant,,ENST00000601528,;	3778	17	26	SUCCESS
FCHO1	23149	.	GRCh37	19	17883504	17883504	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	40	90	0	ENST00000252771.7:c.744A>G	p.Leu248=	p.L248=	ENST00000252771		248	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS59365.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTACTCAG	NONE	.	.	hmmpanther:PTHR23065:SF6,hmmpanther:PTHR23065,Superfamily_domains:SSF103657	.	.	ENSP00000473001	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000594202	Transcript	.	.	ENSG00000130475	29002	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCHO1_HUMAN	FCHO1	HGNC	M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN	.	UPI000059D6B0	SNV	FCHO1,synonymous_variant,p.%3D,ENST00000596536,;FCHO1,synonymous_variant,p.%3D,ENST00000600676,;FCHO1,synonymous_variant,p.%3D,ENST00000389133,;FCHO1,synonymous_variant,p.%3D,ENST00000594202,;FCHO1,synonymous_variant,p.%3D,ENST00000539407,;FCHO1,synonymous_variant,p.%3D,ENST00000597512,;FCHO1,synonymous_variant,p.%3D,ENST00000595023,;FCHO1,synonymous_variant,p.%3D,ENST00000252771,;FCHO1,synonymous_variant,p.%3D,ENST00000595033,;FCHO1,synonymous_variant,p.%3D,ENST00000595549,;FCHO1,synonymous_variant,p.%3D,ENST00000596951,;FCHO1,downstream_gene_variant,,ENST00000600209,;FCHO1,downstream_gene_variant,,ENST00000596507,;FCHO1,downstream_gene_variant,,ENST00000593833,;FCHO1,downstream_gene_variant,,ENST00000597718,;FCHO1,downstream_gene_variant,,ENST00000594068,;FCHO1,downstream_gene_variant,,ENST00000597474,;FCHO1,non_coding_transcript_exon_variant,,ENST00000600393,;FCHO1,intron_variant,,ENST00000597076,;FCHO1,upstream_gene_variant,,ENST00000599766,;FCHO1,upstream_gene_variant,,ENST00000602111,;FCHO1,upstream_gene_variant,,ENST00000596522,;	1023	90	116	SUCCESS
HKR1	0	.	GRCh37	19	37853376	37853376	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	63	119	1	ENST00000324411.4:c.679C>G	p.Leu227Val	p.L227V	ENST00000324411	NM_181786.2	227	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12502.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCTAGAG	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129	.	.	ENSP00000315505	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000324411	Transcript	.	.	ENSG00000181666	4928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.5)	.	HKR1_HUMAN	HKR1	HGNC	Q7Z6E1_HUMAN,K7EM51_HUMAN,K7EL22_HUMAN,K7EJS1_HUMAN,F5H6A5_HUMAN	.	UPI00001AE470	SNV	HKR1,missense_variant,p.Leu166Val,ENST00000541583,;HKR1,missense_variant,p.Leu227Val,ENST00000324411,;HKR1,missense_variant,p.Leu208Val,ENST00000392153,;HKR1,missense_variant,p.Leu209Val,ENST00000589392,;HKR1,5_prime_UTR_variant,,ENST00000544914,;HKR1,5_prime_UTR_variant,,ENST00000591471,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000590582,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,;	948	120	183	SUCCESS
HKR1	0	.	GRCh37	19	37853629	37853629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767652525	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	45	92	0	ENST00000324411.4:c.932C>T	p.Thr311Met	p.T311M	ENST00000324411	NM_181786.2	311	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12502.1	932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTACGTGGA	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129,PROSITE_profiles:PS50157	.	.	ENSP00000315505	.	6/6	.	.	.	.	.	.	.	.	rs767652525	6/6	PASS	ENST00000324411	Transcript	.	.	ENSG00000181666	4928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	tolerated(0.2)	.	HKR1_HUMAN	HKR1	HGNC	Q7Z6E1_HUMAN,K7EM51_HUMAN,K7EL22_HUMAN,K7EJS1_HUMAN,F5H6A5_HUMAN	.	UPI00001AE470	SNV	HKR1,missense_variant,p.Thr250Met,ENST00000541583,;HKR1,missense_variant,p.Thr38Met,ENST00000544914,;HKR1,missense_variant,p.Thr311Met,ENST00000324411,;HKR1,missense_variant,p.Thr292Met,ENST00000392153,;HKR1,missense_variant,p.Thr293Met,ENST00000589392,;HKR1,missense_variant,p.Thr38Met,ENST00000591471,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000590582,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,;	1201	92	106	SUCCESS
SIRT2	22933	.	GRCh37	19	39371780	39371780	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	16	106	0	ENST00000249396.7:c.707G>A	p.Gly236Asp	p.G236D	ENST00000249396	NM_012237.3	236	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12523.1	707	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCACCAAAA	NONE	.	.	PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF3,Pfam_domain:PF02146,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467	.	.	ENSP00000249396	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000249396	Transcript	.	.	ENSG00000068903	10886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	SIR2_HUMAN	SIRT2	HGNC	F8WF57_HUMAN,E7EWX6_HUMAN,C9JZQ0_HUMAN,C9JR33_HUMAN,C9J3U7_HUMAN,B5MCS1_HUMAN	.	UPI0000070897	SNV	SIRT2,missense_variant,p.Gly236Asp,ENST00000249396,;SIRT2,missense_variant,p.Gly199Asp,ENST00000414941,;SIRT2,missense_variant,p.Gly199Asp,ENST00000392081,;SIRT2,missense_variant,p.Gly236Asp,ENST00000358931,;RINL,upstream_gene_variant,,ENST00000340740,;SIRT2,downstream_gene_variant,,ENST00000407552,;RINL,upstream_gene_variant,,ENST00000598904,;RINL,upstream_gene_variant,,ENST00000591812,;SIRT2,3_prime_UTR_variant,,ENST00000420440,;SIRT2,non_coding_transcript_exon_variant,,ENST00000462654,;SIRT2,non_coding_transcript_exon_variant,,ENST00000479290,;SIRT2,downstream_gene_variant,,ENST00000443898,;RINL,upstream_gene_variant,,ENST00000596919,;SIRT2,upstream_gene_variant,,ENST00000496069,;RINL,upstream_gene_variant,,ENST00000589111,;RINL,upstream_gene_variant,,ENST00000599911,;RINL,upstream_gene_variant,,ENST00000598048,;	1009	106	125	SUCCESS
LIPE	3991	.	GRCh37	19	42910418	42910418	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	59	0	ENST00000244289.4:c.2260C>G	p.Pro754Ala	p.P754A	ENST00000244289	NM_005357.2	754	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS12607.1	2260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGGGTAGG	NONE	.	.	hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3,Pfam_domain:PF07859,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000244289	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000244289	Transcript	.	.	ENSG00000079435	6621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	LIPS_HUMAN	LIPE	HGNC	M0QXM5_HUMAN,M0QXB1_HUMAN	.	UPI000013CB66	SNV	LIPE,missense_variant,p.Pro754Ala,ENST00000244289,;LIPE,missense_variant,p.Pro19Ala,ENST00000599918,;LIPE,intron_variant,,ENST00000597620,;LIPE,downstream_gene_variant,,ENST00000597001,;LIPE,downstream_gene_variant,,ENST00000601189,;LIPE,downstream_gene_variant,,ENST00000599211,;LIPE,downstream_gene_variant,,ENST00000599783,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE,downstream_gene_variant,,ENST00000602000,;LIPE,upstream_gene_variant,,ENST00000600224,;	2537	59	92	SUCCESS
HIF3A	64344	.	GRCh37	19	46832584	46832584	+	synonymous_variant	Silent	SNP	C	C	A	rs199544850	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	51	90	1	ENST00000377670.4:c.1561C>A	p.Arg521=	p.R521=	ENST00000377670	NM_152795.3	521	Cgg/Agg	0	.	T:0	.	T:0	.	A	R	protein_coding	YES	CCDS12681.2	1561	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCGGCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043	T:0.001	.	ENSP00000366898	T:0	12/15	.	.	.	.	.	.	.	.	rs199544850	12/15	PASS	ENST00000377670	Transcript	.	T:0.0002	ENSG00000124440	15825	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	HIF3A_HUMAN	HIF3A	HGNC	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN	.	UPI00002026E2	SNV	HIF3A,synonymous_variant,p.%3D,ENST00000420102,;HIF3A,synonymous_variant,p.%3D,ENST00000377670,;HIF3A,synonymous_variant,p.%3D,ENST00000300862,;HIF3A,synonymous_variant,p.%3D,ENST00000600383,;HIF3A,synonymous_variant,p.%3D,ENST00000244303,;HIF3A,synonymous_variant,p.%3D,ENST00000339613,;HIF3A,intron_variant,,ENST00000472815,;AC007193.10,intron_variant,,ENST00000596807,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529542,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,downstream_gene_variant,,ENST00000528563,;	1592	91	140	SUCCESS
BAX	581	.	GRCh37	19	49464086	49464086	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369660551	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	47	0	ENST00000345358.7:c.389C>T	p.Pro130Leu	p.P130L	ENST00000345358	NM_138764.4	130	cCg/cTg	0	T:0.0002	.	.	.	.	T	P/L	protein_coding	YES	CCDS12744.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCGGAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF8,hmmpanther:PTHR11256,Gene3D:1.10.437.10,Pfam_domain:PF00452,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01862	.	T:0	ENSP00000293288	.	5/5	.	.	.	.	.	.	.	.	rs369660551	5/5	PASS	ENST00000293288	Transcript	.	.	ENSG00000087088	959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	tolerated(0.55)	.	BAX_HUMAN	BAX	HGNC	Q9UEI8_HUMAN,Q8WXU1_HUMAN,Q5ZPJ1_HUMAN,I6LPK7_HUMAN	.	UPI000000D900	SNV	BAX,missense_variant,p.Arg163Trp,ENST00000539787,;BAX,missense_variant,p.Pro130Leu,ENST00000345358,;BAX,missense_variant,p.Pro130Leu,ENST00000415969,;BAX,missense_variant,p.Pro81Leu,ENST00000354470,;BAX,missense_variant,p.Pro130Leu,ENST00000293288,;BAX,missense_variant,p.Pro64Leu,ENST00000506183,;BAX,3_prime_UTR_variant,,ENST00000391871,;FTL,upstream_gene_variant,,ENST00000331825,;CTD-2639E6.9,upstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,upstream_gene_variant,,ENST00000594305,;BAX,missense_variant,p.Arg163Trp,ENST00000356483,;BAX,non_coding_transcript_exon_variant,,ENST00000513545,;BAX,non_coding_transcript_exon_variant,,ENST00000502487,;BAX,non_coding_transcript_exon_variant,,ENST00000503726,;BAX,non_coding_transcript_exon_variant,,ENST00000513217,;BAX,downstream_gene_variant,,ENST00000515540,;	389	47	80	SUCCESS
KLK4	9622	.	GRCh37	19	51412004	51412004	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	43	0	ENST00000324041.1:c.306C>A	p.Ser102=	p.S102=	ENST00000324041	NM_004917.3	102	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12809.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTACGGAGAG	BUFFER|p.A99P|c.295G>C|3	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF12,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000326159	.	3/5	.	.	.	.	.	.	.	.	COSM3537404	3/5	PASS	ENST00000324041	Transcript	1	.	ENSG00000167749	6365	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KLK4_HUMAN	KLK4	HGNC	Q96RU5_HUMAN,Q96PT1_HUMAN,Q96JD9_HUMAN	.	UPI0000037168	SNV	KLK4,synonymous_variant,p.%3D,ENST00000324041,;KLK4,synonymous_variant,p.%3D,ENST00000431178,;KLK4,upstream_gene_variant,,ENST00000597441,;KLK4,synonymous_variant,p.%3D,ENST00000593885,;KLK4,synonymous_variant,p.%3D,ENST00000598305,;KLK4,3_prime_UTR_variant,,ENST00000602148,;KLK4,non_coding_transcript_exon_variant,,ENST00000596876,;KLK4,non_coding_transcript_exon_variant,,ENST00000599865,;	306	43	69	SUCCESS
FBN3	84467	.	GRCh37	19	8196466	8196466	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	33	90	0	ENST00000270509.2:c.1962C>T	p.Pro654=	p.P654=	ENST00000270509	NM_032447.3	654	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12196.1	1962	RADIA|MUTECT|MUSE	.	TGGCAGGGCTC	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000470498	.	15/64	.	.	.	.	.	.	.	.	.	15/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,synonymous_variant,p.%3D,ENST00000600128,;FBN3,synonymous_variant,p.%3D,ENST00000601739,;FBN3,synonymous_variant,p.%3D,ENST00000270509,;	2377	90	110	SUCCESS
MUC16	94025	.	GRCh37	19	9083169	9083169	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	90	140	0	ENST00000397910.4:c.8646T>A	p.Thr2882=	p.T2882=	ENST00000397910	NM_024690.2	2882	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54212.1	8646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAAGTTGG	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	8850	140	199	SUCCESS
GSTM3	2947	.	GRCh37	1	110280775	110280775	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	51	94	0	ENST00000256594.3:c.310A>G	p.Ile104Val	p.I104V	ENST00000256594		104	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS812.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTATGATGT	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11571:SF128,hmmpanther:PTHR11571,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616	.	.	ENSP00000444978	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000540225	Transcript	.	.	ENSG00000134202	4635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.07)	.	GSTM3_HUMAN	GSTM3	HGNC	Q6FGJ9_HUMAN	.	UPI000013CF17	SNV	GSTM3,missense_variant,p.Ile104Val,ENST00000256594,;GSTM3,missense_variant,p.Ile104Val,ENST00000361066,;GSTM3,missense_variant,p.Ile104Val,ENST00000540225,;RP4-735C1.4,intron_variant,,ENST00000431955,;GSTM3,non_coding_transcript_exon_variant,,ENST00000486823,;GSTM3,non_coding_transcript_exon_variant,,ENST00000488824,;GSTM5,intron_variant,,ENST00000429410,;GSTM3,upstream_gene_variant,,ENST00000476321,;	621	94	144	SUCCESS
POLR3C	10623	.	GRCh37	1	145609187	145609187	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	28	49	0	ENST00000334163.3:c.147+3A>G		p.X49_splice	ENST00000334163	NM_006468.6	49		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS921.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATACCTG	NONE	.	.	.	.	.	ENSP00000334564	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334163	Transcript	.	.	ENSG00000186141	30076	.	.	LOW	2/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPC3_HUMAN	POLR3C	HGNC	.	.	UPI0000071E0F	SNV	POLR3C,splice_region_variant,,ENST00000369294,;POLR3C,splice_region_variant,,ENST00000334163,;RNF115,upstream_gene_variant,,ENST00000369291,;POLR3C,splice_region_variant,,ENST00000466003,;POLR3C,splice_region_variant,,ENST00000471254,;RNF115,upstream_gene_variant,,ENST00000539368,;RNF115,upstream_gene_variant,,ENST00000542738,;	.	49	135	SUCCESS
TCHH	7062	.	GRCh37	1	152086518	152086518	+	synonymous_variant	Silent	SNP	T	T	C	rs1234821651	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	53	66	0	ENST00000368804.1:c.39A>G	p.Glu13=	p.E13=	ENST00000368804	NM_007113.3	13	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS41396.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATTTCAGT	NONE	.	.	Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357794	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,synonymous_variant,p.%3D,ENST00000368804,;	39	66	135	SUCCESS
RPS27	6232	.	GRCh37	1	153963600	153963600	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	39	0	ENST00000368567.4:c.16G>A	p.Asp6Asn	p.D6N	ENST00000368567	NM_001030.4	6	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1059.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGATCTC	NONE	.	.	hmmpanther:PTHR11594	.	.	ENSP00000357555	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000368567	Transcript	.	.	ENSG00000177954	10416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.03)	.	RS27_HUMAN	RPS27	HGNC	C9J1C5_HUMAN	.	UPI0000001359	SNV	RPS27,missense_variant,p.Asp6Asn,ENST00000392558,;RPS27,missense_variant,p.Asp6Asn,ENST00000368567,;NUP210L,downstream_gene_variant,,ENST00000368553,;NUP210L,downstream_gene_variant,,ENST00000368559,;NUP210L,downstream_gene_variant,,ENST00000271854,;RAB13,upstream_gene_variant,,ENST00000368575,;RPS27,non_coding_transcript_exon_variant,,ENST00000493224,;RPS27,non_coding_transcript_exon_variant,,ENST00000477151,;RAB13,upstream_gene_variant,,ENST00000495720,;RAB13,upstream_gene_variant,,ENST00000462680,;RP11-422P24.9,upstream_gene_variant,,ENST00000431295,;	54	39	114	SUCCESS
ATP8B2	57198	.	GRCh37	1	154316450	154316450	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1263937344	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	253	8	95	0	ENST00000368489.3:c.1939C>T	p.Arg647Ter	p.R647*	ENST00000368489	NM_020452.3	647	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS1066.1	1939	MUTECT|MUSE	.	CTGAGCGACGC	NONE	.	.	hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Pfam_domain:PF12710,Superfamily_domains:SSF56784	.	.	ENSP00000357475	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000368489	Transcript	.	.	ENSG00000143515	13534	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT8B2_HUMAN	ATP8B2	HGNC	Q6P3T1_HUMAN	.	UPI00001B92AB	SNV	ATP8B2,stop_gained,p.Arg647Ter,ENST00000368489,;ATP8B2,downstream_gene_variant,,ENST00000341822,;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,upstream_gene_variant,,ENST00000505882,;	1939	95	262	SUCCESS
SCAMP3	10067	.	GRCh37	1	155230399	155230399	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	69	42	0	ENST00000302631.3:c.196G>T	p.Ala66Ser	p.A66S	ENST00000302631	NM_005698.3	66	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1105.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCTGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10687:SF6,hmmpanther:PTHR10687	.	.	ENSP00000307275	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000302631	Transcript	.	.	ENSG00000116521	10565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.37)	.	SCAM3_HUMAN	SCAMP3	HGNC	.	.	UPI000013E800	SNV	SCAMP3,missense_variant,p.Ala66Ser,ENST00000302631,;SCAMP3,missense_variant,p.Ala40Ser,ENST00000355379,;CLK2,downstream_gene_variant,,ENST00000361168,;CLK2,downstream_gene_variant,,ENST00000536801,;CLK2,downstream_gene_variant,,ENST00000355560,;CLK2,downstream_gene_variant,,ENST00000368361,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000465312,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000490999,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000462151,;SCAMP3,non_coding_transcript_exon_variant,,ENST00000497470,;SCAMP3,upstream_gene_variant,,ENST00000472397,;CLK2,downstream_gene_variant,,ENST00000476983,;SCAMP3,downstream_gene_variant,,ENST00000480219,;SCAMP3,upstream_gene_variant,,ENST00000478737,;CLK2,downstream_gene_variant,,ENST00000497188,;	304	42	135	SUCCESS
OR10K1	391109	.	GRCh37	1	158435624	158435624	+	synonymous_variant	Silent	SNP	C	C	A	rs1176719574	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	7	86	0	ENST00000289451.2:c.273C>A	p.Thr91=	p.T91=	ENST00000289451	NM_001004473.1	91	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30897.1	273	MUTECT|MUSE	.	AAGACCATTTC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF112,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000289451	.	1/1	.	.	.	.	.	.	.	.	COSM676173	1/1	PASS	ENST00000289451	Transcript	.	.	ENSG00000173285	14693	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	O10K1_HUMAN	OR10K1	HGNC	.	.	UPI0000041B19	SNV	OR10K1,synonymous_variant,p.%3D,ENST00000289451,;	353	86	223	SUCCESS
CEP350	9857	.	GRCh37	1	180013265	180013265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	57	57	0	ENST00000367607.3:c.4579G>T	p.Asp1527Tyr	p.D1527Y	ENST00000367607	NM_014810.4	1527	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1336.1	4579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATGATAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13958	.	.	ENSP00000356579	.	21/38	.	.	.	.	.	.	.	.	.	21/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Asp1527Tyr,ENST00000367607,;CEP350,missense_variant,p.Asp136Tyr,ENST00000418229,;CEP350,3_prime_UTR_variant,,ENST00000490047,;	4997	57	138	SUCCESS
PRELP	5549	.	GRCh37	1	203452997	203452997	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1479398727	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	69	111	0	ENST00000343110.2:c.685G>A	p.Ala229Thr	p.A229T	ENST00000343110	NM_201348.1	229	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1438.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGCCCAC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF15,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000343924	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000343110	Transcript	.	.	ENSG00000188783	9357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRELP_HUMAN	PRELP	HGNC	Q7Z4B2_HUMAN	.	UPI000013222E	SNV	PRELP,missense_variant,p.Ala229Thr,ENST00000343110,;	812	111	285	SUCCESS
CR2	1380	.	GRCh37	1	207644091	207644091	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1328106132	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	39	57	0	ENST00000367058.3:c.1232A>G	p.Gln411Arg	p.Q411R	ENST00000367058	NM_001877.4	411	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS31007.1	1232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCAGGCCC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.02)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Gln411Arg,ENST00000458541,;CR2,missense_variant,p.Gln411Arg,ENST00000367057,;CR2,missense_variant,p.Gln411Arg,ENST00000367058,;CR2,missense_variant,p.Gln411Arg,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;CR2,downstream_gene_variant,,ENST00000479186,;	1421	57	184	SUCCESS
ECE1	1889	.	GRCh37	1	21599275	21599275	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	49	127	0	ENST00000374893.6:c.410A>G	p.Asn137Ser	p.N137S	ENST00000374893	NM_001397.2	137	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS215.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGTTGGCC	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF104,hmmpanther:PTHR11733	.	.	ENSP00000364028	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000374893	Transcript	.	.	ENSG00000117298	3146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.02)	.	ECE1_HUMAN	ECE1	HGNC	E9PN99_HUMAN,E9PJG1_HUMAN	.	UPI0000129B5E	SNV	ECE1,missense_variant,p.Asn23Ser,ENST00000473505,;ECE1,missense_variant,p.Asn134Ser,ENST00000264205,;ECE1,missense_variant,p.Asn137Ser,ENST00000436918,;ECE1,missense_variant,p.Asn125Ser,ENST00000357071,;ECE1,missense_variant,p.Asn137Ser,ENST00000374893,;ECE1,missense_variant,p.Asn121Ser,ENST00000415912,;ECE1,missense_variant,p.Asn123Ser,ENST00000481130,;ECE1,downstream_gene_variant,,ENST00000527991,;ECE1,downstream_gene_variant,,ENST00000463334,;ECE1,non_coding_transcript_exon_variant,,ENST00000526194,;	485	127	140	SUCCESS
GPATCH2	55105	.	GRCh37	1	217688227	217688227	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs895220342	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	557	181	255	0	ENST00000366935.3:c.1103C>T	p.Pro368Leu	p.P368L	ENST00000366935	NM_018040.2	368	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1518.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGGGTACC	NONE	.	.	hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4	.	.	ENSP00000355902	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000366935	Transcript	.	.	ENSG00000092978	25499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.04)	.	GPTC2_HUMAN	GPATCH2	HGNC	.	.	UPI000004A012	SNV	GPATCH2,missense_variant,p.Pro368Leu,ENST00000366935,;GPATCH2,non_coding_transcript_exon_variant,,ENST00000485274,;GPATCH2,non_coding_transcript_exon_variant,,ENST00000470014,;	1214	255	739	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232596822	232596822	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	147	130	1	ENST00000262861.4:c.2906G>A	p.Gly969Glu	p.G969E	ENST00000262861	NM_020808.3	969	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS41474.1	2906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCCTTCA	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711,PROSITE_profiles:PS50106	.	.	ENSP00000355589	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Gly969Glu,ENST00000366630,;SIPA1L2,missense_variant,p.Gly43Glu,ENST00000308942,;SIPA1L2,missense_variant,p.Gly969Glu,ENST00000262861,;	3265	131	327	SUCCESS
GREM2	64388	.	GRCh37	1	240656420	240656420	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	42	76	0	ENST00000318160.4:c.356C>T	p.Ser119Phe	p.S119F	ENST00000318160	NM_022469.3	119	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS31070.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGACTGG	BUFFER|p.A121T|c.361G>A|3	.	.	PROSITE_profiles:PS01225,hmmpanther:PTHR15283,hmmpanther:PTHR15283:SF2,Pfam_domain:PF03045,SMART_domains:SM00041,PIRSF_domain:PIRSF037254	.	.	ENSP00000318650	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318160	Transcript	.	.	ENSG00000180875	17655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0.05)	.	GREM2_HUMAN	GREM2	HGNC	.	.	UPI000006F961	SNV	GREM2,missense_variant,p.Ser119Phe,ENST00000318160,;	623	76	214	SUCCESS
FAM151A	338094	.	GRCh37	1	55085632	55085636	+	frameshift_variant	Frame_Shift_Del	DEL	AGGTA	AGGTA	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	AGGTA	AGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	31	0	ENST00000302250.2:c.163_167del	p.Tyr55AlafsTer40	p.Y55Afs*40	ENST00000302250	NM_176782.2	55	TACCTg/g	0	.	.	.	.	.	-	YL/X	protein_coding	YES	CCDS594.1	163-167	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCAGCAGGTAGTCCA	NONE	.	.	hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF4	.	.	ENSP00000306888	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000302250	Transcript	.	.	ENSG00000162391	25032	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F151A_HUMAN	FAM151A	HGNC	.	.	UPI000003776D	deletion	FAM151A,frameshift_variant,p.Tyr55AlafsTer40,ENST00000371304,;FAM151A,frameshift_variant,p.Tyr55AlafsTer40,ENST00000302250,;ACOT11,intron_variant,,ENST00000371316,;RP11-240D10.4,downstream_gene_variant,,ENST00000416119,;	324-328	31	51	SUCCESS
CLCA1	1179	.	GRCh37	1	86960069	86960069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	97	129	0	ENST00000234701.3:c.1880C>A	p.Thr627Lys	p.T627K	ENST00000234701		627	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS709.1	1880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCACAGCCC	NONE	.	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868	.	.	ENSP00000234701	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Thr627Lys,ENST00000234701,;CLCA1,missense_variant,p.Thr627Lys,ENST00000394711,;	2231	129	210	SUCCESS
DNTTIP2	30836	.	GRCh37	1	94343382	94343382	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1386603055	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	8	0	ENST00000436063.2:c.109A>G	p.Ser37Gly	p.S37G	ENST00000436063	NM_014597.4	37	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS44174.1	109	MUTECT|MUSE|VARSCANS	.	ACTACTTTCTG	NONE	.	.	hmmpanther:PTHR21686:SF12,hmmpanther:PTHR21686	.	.	ENSP00000411010	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000436063	Transcript	.	.	ENSG00000067334	24013	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.45)	.	TDIF2_HUMAN	DNTTIP2	HGNC	.	.	UPI000006F063	SNV	DNTTIP2,missense_variant,p.Ser44Gly,ENST00000528680,;DNTTIP2,missense_variant,p.Ser37Gly,ENST00000436063,;DNTTIP2,non_coding_transcript_exon_variant,,ENST00000460191,;DNTTIP2,intron_variant,,ENST00000496672,;DNTTIP2,upstream_gene_variant,,ENST00000496535,;DNTTIP2,missense_variant,p.Ser37Gly,ENST00000359208,;	167	8	18	SUCCESS
CPXM1	56265	.	GRCh37	20	2775922	2775922	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	41	59	0	ENST00000380605.2:c.1860+1G>A		p.X620_splice	ENST00000380605	NM_001184699.1	620		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGACCTGCT	NONE	.	.	.	.	.	ENSP00000369979	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380605	Transcript	.	.	ENSG00000088882	15771	.	.	HIGH	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPXM1_HUMAN	CPXM1	HGNC	Q8N2F1_HUMAN,B4DZY4_HUMAN	.	UPI0000039DD0	SNV	CPXM1,splice_donor_variant,,ENST00000380605,;	.	59	91	SUCCESS
NCOA3	8202	.	GRCh37	20	46264396	46264396	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753792930	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	52	97	0	ENST00000371998.3:c.1443G>T	p.Met481Ile	p.M481I	ENST00000371998		481	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13407.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATGATTTC	NONE	byFrequency	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	11/23	.	.	.	.	.	.	.	.	rs753792930	11/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	deleterious(0.01)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Met491Ile,ENST00000371997,;NCOA3,missense_variant,p.Met481Ile,ENST00000372004,;NCOA3,missense_variant,p.Met491Ile,ENST00000341724,;NCOA3,missense_variant,p.Met481Ile,ENST00000371998,;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;	1634	97	126	SUCCESS
LAMA5	3911	.	GRCh37	20	60898879	60898879	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	53	87	0	ENST00000252999.3:c.5802C>T	p.Arg1934=	p.R1934=	ENST00000252999	NM_005560.4	1934	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33502.1	5802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGCGGCC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000252999	.	44/80	.	.	.	.	.	.	.	.	.	44/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,synonymous_variant,p.%3D,ENST00000252999,;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,non_coding_transcript_exon_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;	5869	87	127	SUCCESS
ARFGAP1	55738	.	GRCh37	20	61917505	61917505	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	36	0	ENST00000370283.4:c.835-213C>T		p.*279*	ENST00000370283	NM_018209.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13516.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCTGTCC	NONE	.	.	.	.	.	ENSP00000314615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353546	Transcript	.	.	ENSG00000101199	15852	.	.	MODIFIER	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARFG1_HUMAN	ARFGAP1	HGNC	F8VWH9_HUMAN,F8VWB3_HUMAN,E5RIU2_HUMAN	.	UPI000002A3F2	SNV	ARFGAP1,synonymous_variant,p.%3D,ENST00000370275,;ARFGAP1,intron_variant,,ENST00000523460,;ARFGAP1,intron_variant,,ENST00000370283,;ARFGAP1,intron_variant,,ENST00000518601,;ARFGAP1,intron_variant,,ENST00000519604,;ARFGAP1,intron_variant,,ENST00000547204,;ARFGAP1,intron_variant,,ENST00000549047,;ARFGAP1,intron_variant,,ENST00000353546,;ARFGAP1,intron_variant,,ENST00000519273,;ARFGAP1,upstream_gene_variant,,ENST00000549076,;ARFGAP1,downstream_gene_variant,,ENST00000522403,;MIR4326,upstream_gene_variant,,ENST00000582203,;ARFGAP1,intron_variant,,ENST00000468975,;ARFGAP1,intron_variant,,ENST00000518618,;ARFGAP1,intron_variant,,ENST00000518794,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000395285,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518691,;ARFGAP1,intron_variant,,ENST00000520485,;ARFGAP1,downstream_gene_variant,,ENST00000520022,;ARFGAP1,downstream_gene_variant,,ENST00000519531,;	.	36	55	SUCCESS
ZGPAT	84619	.	GRCh37	20	62366733	62366733	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs767662975	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	90	0	ENST00000328969.5:c.1274A>C	p.Gln425Pro	p.Q425P	ENST00000328969	NM_032527.4	425	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS13534.1	1274	RADIA|MUTECT|MUSE	.	AGGTCAGGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF8	.	.	ENSP00000332013	.	6/7	.	.	.	.	.	.	.	.	rs767662975	6/7	PASS	ENST00000328969	Transcript	.	.	ENSG00000197114	15948	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	deleterious(0.04)	.	ZGPAT_HUMAN	ZGPAT	HGNC	.	.	UPI000013EEDB	SNV	ZGPAT,missense_variant,p.Gln405Pro,ENST00000448100,;ZGPAT,missense_variant,p.Gln425Pro,ENST00000328969,;ZGPAT,missense_variant,p.Gln396Pro,ENST00000357119,;ZGPAT,missense_variant,p.Gln405Pro,ENST00000355969,;ZGPAT,missense_variant,p.Gln405Pro,ENST00000369967,;SLC2A4RG,upstream_gene_variant,,ENST00000266077,;RP4-583P15.14,upstream_gene_variant,,ENST00000467211,;LIME1,upstream_gene_variant,,ENST00000493265,;LIME1,upstream_gene_variant,,ENST00000309546,;LIME1,upstream_gene_variant,,ENST00000444951,;LIME1,upstream_gene_variant,,ENST00000490824,;SLC2A4RG,upstream_gene_variant,,ENST00000485897,;LIME1,upstream_gene_variant,,ENST00000476183,;LIME1,upstream_gene_variant,,ENST00000496820,;LIME1,upstream_gene_variant,,ENST00000465591,;RP4-583P15.14,upstream_gene_variant,,ENST00000476221,;ZGPAT,downstream_gene_variant,,ENST00000478385,;SLC2A4RG,upstream_gene_variant,,ENST00000474248,;LIME1,upstream_gene_variant,,ENST00000487026,;ZGPAT,downstream_gene_variant,,ENST00000472711,;LIME1,upstream_gene_variant,,ENST00000489212,;LIME1,upstream_gene_variant,,ENST00000494776,;LIME1,upstream_gene_variant,,ENST00000480139,;ZGPAT,downstream_gene_variant,,ENST00000468235,;RP4-583P15.15,missense_variant,p.Gln311Pro,ENST00000490623,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000477340,;ZGPAT,downstream_gene_variant,,ENST00000484569,;	1401	90	125	SUCCESS
ZGPAT	84619	.	GRCh37	20	62366751	62366751	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	54	96	0	ENST00000328969.5:c.1292A>G	p.Glu431Gly	p.E431G	ENST00000328969	NM_032527.4	431	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS13534.1	1292	RADIA|MUTECT|MUSE	.	CCTAGAAGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF8	.	.	ENSP00000332013	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000328969	Transcript	.	.	ENSG00000197114	15948	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.15)	.	tolerated(0.1)	.	ZGPAT_HUMAN	ZGPAT	HGNC	.	.	UPI000013EEDB	SNV	ZGPAT,missense_variant,p.Glu411Gly,ENST00000448100,;ZGPAT,missense_variant,p.Glu431Gly,ENST00000328969,;ZGPAT,missense_variant,p.Glu402Gly,ENST00000357119,;ZGPAT,missense_variant,p.Glu411Gly,ENST00000355969,;ZGPAT,missense_variant,p.Glu411Gly,ENST00000369967,;SLC2A4RG,upstream_gene_variant,,ENST00000266077,;RP4-583P15.14,upstream_gene_variant,,ENST00000467211,;LIME1,upstream_gene_variant,,ENST00000493265,;LIME1,upstream_gene_variant,,ENST00000309546,;LIME1,upstream_gene_variant,,ENST00000444951,;LIME1,upstream_gene_variant,,ENST00000490824,;SLC2A4RG,upstream_gene_variant,,ENST00000485897,;LIME1,upstream_gene_variant,,ENST00000476183,;LIME1,upstream_gene_variant,,ENST00000496820,;LIME1,upstream_gene_variant,,ENST00000465591,;RP4-583P15.14,upstream_gene_variant,,ENST00000476221,;ZGPAT,downstream_gene_variant,,ENST00000478385,;SLC2A4RG,upstream_gene_variant,,ENST00000474248,;LIME1,upstream_gene_variant,,ENST00000487026,;ZGPAT,downstream_gene_variant,,ENST00000472711,;LIME1,upstream_gene_variant,,ENST00000489212,;LIME1,upstream_gene_variant,,ENST00000494776,;LIME1,upstream_gene_variant,,ENST00000480139,;ZGPAT,downstream_gene_variant,,ENST00000468235,;RP4-583P15.15,missense_variant,p.Glu317Gly,ENST00000490623,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000477340,;ZGPAT,downstream_gene_variant,,ENST00000484569,;	1419	96	138	SUCCESS
PCNT	5116	.	GRCh37	21	47783767	47783767	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	76	0	ENST00000359568.5:c.2527C>T	p.Pro843Ser	p.P843S	ENST00000359568	NM_006031.5	843	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS33592.1	2527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCCGCCC	NONE	.	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	14/47	.	.	.	.	.	.	.	.	.	14/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Pro843Ser,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;	2634	76	76	SUCCESS
MICAL3	57553	.	GRCh37	22	18371957	18371957	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs775568249	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	57	73	0	ENST00000441493.2:c.1734T>A	p.Asn578Lys	p.N578K	ENST00000441493	NM_015241.2	578	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46659.1	1734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTATTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000416015	.	13/32	.	.	.	.	.	.	.	.	rs775568249	13/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,missense_variant,p.Asn578Lys,ENST00000207726,;MICAL3,missense_variant,p.Asn578Lys,ENST00000444520,;MICAL3,missense_variant,p.Asn578Lys,ENST00000383094,;MICAL3,missense_variant,p.Asn578Lys,ENST00000414725,;MICAL3,missense_variant,p.Asn97Lys,ENST00000461307,;MICAL3,missense_variant,p.Asn578Lys,ENST00000585038,;MICAL3,missense_variant,p.Asn578Lys,ENST00000429452,;MICAL3,missense_variant,p.Asn578Lys,ENST00000441493,;MICAL3,missense_variant,p.Asn578Lys,ENST00000400561,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;	2087	73	134	SUCCESS
ZNRF3	84133	.	GRCh37	22	29439309	29439309	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769747335	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	57	0	ENST00000544604.2:c.524C>A	p.Pro175Gln	p.P175Q	ENST00000544604	NM_001206998.1	175	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS56225.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGCTCA	NONE	.	.	hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200	.	.	ENSP00000443824	.	4/9	.	.	.	.	.	.	.	.	rs769747335	4/9	PASS	ENST00000544604	Transcript	.	.	ENSG00000183579	18126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	ZNRF3_HUMAN	ZNRF3	HGNC	.	.	UPI0000EE5944	SNV	ZNRF3,missense_variant,p.Pro75Gln,ENST00000406323,;ZNRF3,missense_variant,p.Pro75Gln,ENST00000332811,;ZNRF3,missense_variant,p.Pro75Gln,ENST00000402174,;ZNRF3,missense_variant,p.Pro175Gln,ENST00000544604,;	699	57	60	SUCCESS
RGPD4	285190	.	GRCh37	2	108477326	108477326	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	282	160	310	0	ENST00000408999.3:c.1863C>A	p.Asn621Lys	p.N621K	ENST00000408999	NM_182588.2	621	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS46381.1	1863	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACAGTAT	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.82)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Asn621Lys,ENST00000408999,;RGPD4,missense_variant,p.Asn621Lys,ENST00000354986,;	1940	310	442	SUCCESS
MARCO	8685	.	GRCh37	2	119735485	119735485	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	87	174	0	ENST00000327097.4:c.740G>C	p.Gly247Ala	p.G247A	ENST00000327097	NM_006770.3	247	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS2124.1	740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGGAGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000318916	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000327097	Transcript	.	.	ENSG00000019169	6895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	MARCO_HUMAN	MARCO	HGNC	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN	.	UPI0000000DF8	SNV	MARCO,missense_variant,p.Gly247Ala,ENST00000327097,;MARCO,missense_variant,p.Gly169Ala,ENST00000541757,;	875	174	226	SUCCESS
MZT2A	653784	.	GRCh37	2	132249449	132249449	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs780848305	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	27	0	ENST00000309451.6:c.319G>T	p.Gly107Trp	p.G107W	ENST00000309451	NM_001085365.1	107	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS42758.1	319	RADIA|SOMATICSNIPER|VARSCANS	.	CTGACCTCGGG	NONE	byFrequency	.	.	.	.	ENSP00000311500	.	2/3	.	.	.	.	.	.	.	.	rs780848305	2/3	PASS	ENST00000309451	Transcript	.	.	ENSG00000173272	33187	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MZT2A_HUMAN	MZT2A	HGNC	.	.	UPI0000421BEF	SNV	MZT2A,missense_variant,p.Gly107Trp,ENST00000309451,;MIR4784,upstream_gene_variant,,ENST00000579560,;MZT2A,splice_region_variant,,ENST00000488586,;MZT2A,splice_region_variant,,ENST00000410036,;AC093838.4,upstream_gene_variant,,ENST00000438378,;MZT2A,missense_variant,p.Gly94Cys,ENST00000427024,;MZT2A,splice_region_variant,,ENST00000445782,;MZT2A,non_coding_transcript_exon_variant,,ENST00000491265,;AC093838.4,upstream_gene_variant,,ENST00000416745,;AC093838.4,upstream_gene_variant,,ENST00000426369,;AC093838.4,upstream_gene_variant,,ENST00000415574,;AC093838.4,upstream_gene_variant,,ENST00000538598,;AC093838.4,upstream_gene_variant,,ENST00000543513,;	365	27	35	SUCCESS
LRP1B	53353	.	GRCh37	2	141819790	141819790	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766138161	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	54	0	ENST00000389484.3:c.1066A>T	p.Met356Leu	p.M356L	ENST00000389484	NM_018557.2	356	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS2182.1	1066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATGTCAC	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	8/91	.	.	.	.	.	.	.	.	rs766138161	8/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Met356Leu,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	2038	54	81	SUCCESS
TTN	7273	.	GRCh37	2	179477198	179477198	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	52	0	ENST00000591111.1:c.45131A>G	p.Asn15044Ser	p.N15044S	ENST00000591111		15044	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS59435.1	50054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGTTGGTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	266/363	.	.	.	.	.	.	.	.	.	266/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asn7745Ser,ENST00000359218,;TTN,missense_variant,p.Asn15044Ser,ENST00000591111,;TTN,missense_variant,p.Asn16685Ser,ENST00000589042,;TTN,missense_variant,p.Asn14117Ser,ENST00000342992,;TTN,missense_variant,p.Asn7812Ser,ENST00000342175,;TTN,missense_variant,p.Asn7620Ser,ENST00000460472,;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;	50279	52	71	SUCCESS
SLC40A1	30061	.	GRCh37	2	190428726	190428726	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	88	140	0	ENST00000261024.2:c.986C>A	p.Thr329Lys	p.T329K	ENST00000261024	NM_014585.5	329	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS2299.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGTGGTG	NONE	.	.	hmmpanther:PTHR11660:SF47,hmmpanther:PTHR11660,Gene3D:1.20.1250.20,Pfam_domain:PF06963,Superfamily_domains:SSF103473	.	.	ENSP00000261024	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000261024	Transcript	.	.	ENSG00000138449	10909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	S40A1_HUMAN	SLC40A1	HGNC	Q4PNE6_HUMAN,E7ES28_HUMAN,E7EQF8_HUMAN	.	UPI0000034CC2	SNV	SLC40A1,missense_variant,p.Thr329Lys,ENST00000261024,;SLC40A1,downstream_gene_variant,,ENST00000427241,;	1413	140	203	SUCCESS
NBEAL1	65065	.	GRCh37	2	204078361	204078361	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	60	91	0	ENST00000449802.1:c.7968T>C	p.Val2656=	p.V2656=	ENST00000449802	NM_001114132.1	2656	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS46495.1	7968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTTGGCAA	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000399903	.	54/55	.	.	.	.	.	.	.	.	.	54/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,synonymous_variant,p.%3D,ENST00000449802,;NBEAL1,synonymous_variant,p.%3D,ENST00000414576,;NBEAL1,synonymous_variant,p.%3D,ENST00000434469,;	8301	91	127	SUCCESS
KANSL1L	151050	.	GRCh37	2	210888866	210888866	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	107	172	1	ENST00000281772.9:c.2624T>G	p.Phe875Cys	p.F875C	ENST00000281772	NM_152519.2	875	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS33370.1	2624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGAAGTTA	NONE	.	.	Pfam_domain:PF15275,hmmpanther:PTHR22443,hmmpanther:PTHR22443:SF16	.	.	ENSP00000281772	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000281772	Transcript	.	.	ENSG00000144445	26310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	tolerated_low_confidence(0.15)	.	KAL1L_HUMAN	KANSL1L	HGNC	.	.	UPI00002094A9	SNV	KANSL1L,missense_variant,p.Phe833Cys,ENST00000418791,;KANSL1L,missense_variant,p.Phe875Cys,ENST00000281772,;RPE,downstream_gene_variant,,ENST00000435437,;RPE,downstream_gene_variant,,ENST00000359429,;RPE,downstream_gene_variant,,ENST00000429921,;RPE,downstream_gene_variant,,ENST00000445268,;RPE,downstream_gene_variant,,ENST00000438204,;RPE,downstream_gene_variant,,ENST00000429907,;RPE,downstream_gene_variant,,ENST00000411934,;RPE,downstream_gene_variant,,ENST00000408981,;RPE,downstream_gene_variant,,ENST00000354506,;RPE,downstream_gene_variant,,ENST00000540255,;RPE,downstream_gene_variant,,ENST00000454822,;RPE,downstream_gene_variant,,ENST00000436630,;RPE,downstream_gene_variant,,ENST00000452025,;RP11-260M2.1,upstream_gene_variant,,ENST00000608095,;	2888	173	250	SUCCESS
CTDSP1	58190	.	GRCh37	2	219268052	219268052	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	40	64	0	ENST00000273062.2:c.569A>T	p.Lys190Met	p.K190M	ENST00000273062	NM_021198.2	190	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS2416.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGAAGGACC	NONE	.	.	Superfamily_domains:SSF56784,SMART_domains:SM00577,Pfam_domain:PF03031,TIGRFAM_domain:TIGR02251,Gene3D:3.40.50.1000,hmmpanther:PTHR12210:SF41,hmmpanther:PTHR12210,PROSITE_profiles:PS50969	.	.	ENSP00000273062	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000273062	Transcript	.	.	ENSG00000144579	21614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CTDS1_HUMAN	CTDSP1	HGNC	.	.	UPI000013007C	SNV	CTDSP1,missense_variant,p.Lys183Met,ENST00000452977,;CTDSP1,missense_variant,p.Lys190Met,ENST00000273062,;CTDSP1,missense_variant,p.Lys191Met,ENST00000428361,;CTDSP1,missense_variant,p.Lys189Met,ENST00000443891,;CTDSP1,downstream_gene_variant,,ENST00000431127,;MIR26B,downstream_gene_variant,,ENST00000362251,;RP11-378A13.2,upstream_gene_variant,,ENST00000608367,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000491064,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000464255,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000473420,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000498160,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000488627,;CTDSP1,downstream_gene_variant,,ENST00000496785,;CTDSP1,downstream_gene_variant,,ENST00000492545,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000482272,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000497677,;CTDSP1,downstream_gene_variant,,ENST00000494067,;	905	64	89	SUCCESS
DNAJC27	51277	.	GRCh37	2	25190147	25190147	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs147784881	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	115	196	0	ENST00000264711.2:c.103C>T	p.Arg35Ter	p.R35*	ENST00000264711	NM_016544.2	35	Cga/Tga	0	A:0.0002	.	.	.	.	A	R/*	protein_coding	YES	CCDS1716.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCGCTTTA	NONE	byCluster	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF269,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	A:0	ENSP00000264711	.	2/7	.	.	.	.	.	.	.	.	rs147784881,COSM280535	2/7	PASS	ENST00000264711	Transcript	.	.	ENSG00000115137	30290	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DJC27_HUMAN	DNAJC27	HGNC	Q53T53_HUMAN,Q53T06_HUMAN,F5GY94_HUMAN	.	UPI000006F258	SNV	DNAJC27,stop_gained,p.Arg35Ter,ENST00000264711,;DNAJC27,5_prime_UTR_variant,,ENST00000534855,;SNORD14,downstream_gene_variant,,ENST00000365609,;DNAJC27-AS1,upstream_gene_variant,,ENST00000445389,;DNAJC27-AS1,upstream_gene_variant,,ENST00000422449,;DNAJC27-AS1,upstream_gene_variant,,ENST00000451291,;DNAJC27-AS1,upstream_gene_variant,,ENST00000428614,;DNAJC27-AS1,upstream_gene_variant,,ENST00000421842,;DNAJC27-AS1,upstream_gene_variant,,ENST00000434897,;DNAJC27-AS1,upstream_gene_variant,,ENST00000421904,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000494239,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000468467,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000468750,;DNAJC27,stop_gained,p.Arg35Ter,ENST00000380809,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000492985,;AC013267.1,downstream_gene_variant,,ENST00000458227,;	293	196	274	SUCCESS
C2orf53	0	.	GRCh37	2	27360538	27360538	+	synonymous_variant	Silent	SNP	C	C	A	rs770927319	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	52	71	0	ENST00000335524.3:c.660G>T	p.Gly220=	p.G220=	ENST00000335524	NM_178553.3	220	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1739.1	660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGCCCCAG	NONE	byFrequency	.	hmmpanther:PTHR22235,hmmpanther:PTHR22235:SF2	.	.	ENSP00000335017	.	3/3	.	.	.	.	.	.	.	.	rs770927319	3/3	PASS	ENST00000335524	Transcript	.	.	ENSG00000186143	28677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB053_HUMAN	C2orf53	HGNC	.	.	UPI00001995FD	SNV	C2orf53,missense_variant,p.Ala56Ser,ENST00000432962,;C2orf53,synonymous_variant,p.%3D,ENST00000335524,;PREB,upstream_gene_variant,,ENST00000406567,;PREB,upstream_gene_variant,,ENST00000260643,;PREB,upstream_gene_variant,,ENST00000416802,;PREB,upstream_gene_variant,,ENST00000474802,;PREB,upstream_gene_variant,,ENST00000468045,;PREB,upstream_gene_variant,,ENST00000444452,;	1186	71	118	SUCCESS
BIRC6	57448	.	GRCh37	2	32695253	32695253	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	57	0	ENST00000421745.2:c.6365C>G	p.Ser2122Cys	p.S2122C	ENST00000421745	NM_016252.3	2122	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS33175.2	6365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCCTGCA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	31/74	.	.	.	.	.	.	.	.	.	31/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Ser2122Cys,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000462504,;	6499	57	97	SUCCESS
RTN4	57142	.	GRCh37	2	55201875	55201875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	141	208	0	ENST00000337526.6:c.3386C>T	p.Thr1129Ile	p.T1129I	ENST00000337526	NM_020532.4	1129	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS42684.1	3386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGGTAAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50845,hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994,Pfam_domain:PF02453	.	.	ENSP00000337838	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,missense_variant,p.Thr136Ile,ENST00000394609,;RTN4,missense_variant,p.Thr923Ile,ENST00000404909,;RTN4,missense_variant,p.Thr923Ile,ENST00000405240,;RTN4,missense_variant,p.Thr897Ile,ENST00000354474,;RTN4,missense_variant,p.Thr1129Ile,ENST00000337526,;RTN4,missense_variant,p.Thr923Ile,ENST00000394611,;RTN4,missense_variant,p.Thr329Ile,ENST00000357732,;RTN4,missense_variant,p.Thr282Ile,ENST00000402434,;RTN4,missense_variant,p.Thr153Ile,ENST00000438462,;RTN4,missense_variant,p.Thr310Ile,ENST00000317610,;RTN4,missense_variant,p.Thr923Ile,ENST00000357376,;EML6,downstream_gene_variant,,ENST00000356458,;RTN4,intron_variant,,ENST00000486085,;RTN4,upstream_gene_variant,,ENST00000491592,;RTN4,upstream_gene_variant,,ENST00000485749,;EML6,downstream_gene_variant,,ENST00000490828,;EML6,downstream_gene_variant,,ENST00000488611,;EML6,downstream_gene_variant,,ENST00000466608,;	3630	208	329	SUCCESS
CD207	50489	.	GRCh37	2	71060902	71060902	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs975768838	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	50	92	0	ENST00000410009.3:c.440T>C	p.Val147Ala	p.V147A	ENST00000410009	NM_015717.3	147	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	.	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGACTTCT	NONE	.	.	hmmpanther:PTHR22802:SF14,hmmpanther:PTHR22802,Gene3D:1.20.1170.10	.	.	ENSP00000386378	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000410009	Transcript	.	.	ENSG00000116031	17935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.19)	.	CLC4K_HUMAN	CD207	HGNC	.	.	UPI0000410F0C	SNV	CD207,missense_variant,p.Val147Ala,ENST00000410009,;	486	92	135	SUCCESS
LBX2-AS1	151534	.	GRCh37	2	74729750	74729750	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	26	0	ENST00000603175.1:n.29C>T		p.*10*	ENST00000603175				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33228.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCGCTAC	NONE	.	.	.	.	.	ENSP00000417116	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000460508	Transcript	.	.	ENSG00000179528	15525	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBX2_HUMAN	LBX2	HGNC	.	.	UPI00001AADF5	SNV	LBX2,intron_variant,,ENST00000341396,;LBX2,intron_variant,,ENST00000460508,;PCGF1,downstream_gene_variant,,ENST00000233630,;LBX2,upstream_gene_variant,,ENST00000377566,;LBX2-AS1,non_coding_transcript_exon_variant,,ENST00000548978,;LBX2-AS1,non_coding_transcript_exon_variant,,ENST00000603175,;RP11-523H20.3,downstream_gene_variant,,ENST00000606287,;AC005041.17,upstream_gene_variant,,ENST00000479098,;LBX2,intron_variant,,ENST00000550249,;PCGF1,downstream_gene_variant,,ENST00000465993,;PCGF1,downstream_gene_variant,,ENST00000480844,;PCGF1,downstream_gene_variant,,ENST00000496911,;PCGF1,downstream_gene_variant,,ENST00000463744,;PCGF1,downstream_gene_variant,,ENST00000489914,;PCGF1,downstream_gene_variant,,ENST00000475863,;	.	26	39	SUCCESS
DNAH6	1768	.	GRCh37	2	84832694	84832694	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	74	0	ENST00000237449.6:c.3152T>G	p.Leu1051Arg	p.L1051R	ENST00000237449		1051	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS46348.1	3152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACTGGGCG	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	20/77	.	.	.	.	.	.	.	.	.	20/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Leu1051Arg,ENST00000237449,;DNAH6,missense_variant,p.Leu1051Arg,ENST00000398278,;DNAH6,missense_variant,p.Leu1051Arg,ENST00000389394,;	3289	74	141	SUCCESS
TMEM150A	129303	.	GRCh37	2	85828182	85828182	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	76	0	ENST00000334462.5:c.162C>G	p.Pro54=	p.P54=	ENST00000334462	NM_001031738.2	54	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS33233.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGGGACC	NONE	.	.	hmmpanther:PTHR21324:SF6,hmmpanther:PTHR21324,Pfam_domain:PF10277	.	.	ENSP00000387292	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000409668	Transcript	.	.	ENSG00000168890	24677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T150A_HUMAN	TMEM150A	HGNC	.	.	UPI000018CE98	SNV	TMEM150A,missense_variant,p.Pro24Arg,ENST00000306353,;TMEM150A,missense_variant,p.Pro24Arg,ENST00000425160,;TMEM150A,synonymous_variant,p.%3D,ENST00000334462,;TMEM150A,synonymous_variant,p.%3D,ENST00000409668,;RNF181,downstream_gene_variant,,ENST00000456023,;RNF181,downstream_gene_variant,,ENST00000441634,;RNF181,downstream_gene_variant,,ENST00000414390,;RNF181,downstream_gene_variant,,ENST00000306368,;USP39,upstream_gene_variant,,ENST00000459775,;USP39,upstream_gene_variant,,ENST00000491659,;TMEM150A,3_prime_UTR_variant,,ENST00000433956,;TMEM150A,3_prime_UTR_variant,,ENST00000451147,;TMEM150A,3_prime_UTR_variant,,ENST00000422458,;TMEM150A,non_coding_transcript_exon_variant,,ENST00000444380,;TMEM150A,non_coding_transcript_exon_variant,,ENST00000417791,;TMEM150A,non_coding_transcript_exon_variant,,ENST00000431593,;TMEM150A,downstream_gene_variant,,ENST00000455852,;TMEM150A,upstream_gene_variant,,ENST00000463363,;RNF181,downstream_gene_variant,,ENST00000461845,;RNF181,downstream_gene_variant,,ENST00000443647,;	630	76	112	SUCCESS
GPR128	0	.	GRCh37	3	100387946	100387946	+	synonymous_variant	Silent	SNP	A	A	G	rs780285584	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	64	112	0	ENST00000273352.3:c.2133A>G	p.Thr711=	p.T711=	ENST00000273352	NM_032787.2	711	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2938.1	2133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACACAGGT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF43,PROSITE_profiles:PS50261,Transmembrane_helices:TMhelix	.	.	ENSP00000273352	.	15/16	.	.	.	.	.	.	.	.	rs780285584	15/16	PASS	ENST00000273352	Transcript	.	.	ENSG00000144820	19241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP128_HUMAN	GPR128	HGNC	Q6ZMH0_HUMAN	.	UPI000004B6DF	SNV	GPR128,synonymous_variant,p.%3D,ENST00000273352,;GPR128,synonymous_variant,p.%3D,ENST00000475887,;GPR128,non_coding_transcript_exon_variant,,ENST00000481506,;GMFBP1,upstream_gene_variant,,ENST00000467831,;	2401	112	180	SUCCESS
PLXND1	23129	.	GRCh37	3	129288753	129288753	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	44	0	ENST00000324093.4:c.3798G>A	p.Gly1266=	p.G1266=	ENST00000324093	NM_015103.2	1266	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33854.1	3798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCCCCAG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7	.	.	ENSP00000317128	.	20/36	.	.	.	.	.	.	.	.	.	20/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,synonymous_variant,p.%3D,ENST00000324093,;PLXND1,synonymous_variant,p.%3D,ENST00000393239,;PLXND1,non_coding_transcript_exon_variant,,ENST00000514990,;PLXND1,upstream_gene_variant,,ENST00000512744,;PLXND1,upstream_gene_variant,,ENST00000503166,;PLXND1,downstream_gene_variant,,ENST00000504767,;PLXND1,downstream_gene_variant,,ENST00000511018,;PLXND1,downstream_gene_variant,,ENST00000515191,;PLXND1,downstream_gene_variant,,ENST00000505505,;	3977	44	34	SUCCESS
ATR	545	.	GRCh37	3	142188365	142188365	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	101	129	0	ENST00000350721.4:c.6366A>G	p.Ile2122Met	p.I2122M	ENST00000350721	NM_001184.3	2122	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3124.1	6366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTTATTTT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.15)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Ile2058Met,ENST00000383101,;ATR,missense_variant,p.Ile2122Met,ENST00000350721,;ATR,upstream_gene_variant,,ENST00000513291,;RP11-383G6.3,intron_variant,,ENST00000460977,;	6488	129	227	SUCCESS
P2RY14	9934	.	GRCh37	3	150932059	150932059	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	51	0	ENST00000309170.3:c.46C>A	p.Gln16Lys	p.Q16K	ENST00000309170	NM_014879.3	16	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS3156.1	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGAGAGC	NONE	.	.	hmmpanther:PTHR24233:SF3,hmmpanther:PTHR24233,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01655	.	.	ENSP00000308361	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309170	Transcript	.	.	ENSG00000174944	16442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.07)	.	P2Y14_HUMAN	P2RY14	HGNC	C9JAB5_HUMAN,A5JUU3_HUMAN	.	UPI0000050418	SNV	P2RY14,missense_variant,p.Gln16Lys,ENST00000309170,;P2RY14,missense_variant,p.Gln16Lys,ENST00000494668,;P2RY14,missense_variant,p.Gln16Lys,ENST00000424796,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;	359	51	67	SUCCESS
ECT2	1894	.	GRCh37	3	172499968	172499968	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs896180667	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	4	59	0	ENST00000392692.3:c.1564C>G	p.Leu522Val	p.L522V	ENST00000392692	NM_001258315.1	522	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS58860.1	1564	MUTECT|MUSE	.	AAGACCTTATA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR16777,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000376457	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000392692	Transcript	.	.	ENSG00000114346	3155	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.718)	.	tolerated(0.11)	.	ECT2_HUMAN	ECT2	HGNC	Q96SJ9_HUMAN,Q96J05_HUMAN,C9JTI2_HUMAN,C9JDV9_HUMAN	.	UPI00003DFD0A	SNV	ECT2,missense_variant,p.Leu491Val,ENST00000232458,;ECT2,missense_variant,p.Leu491Val,ENST00000427830,;ECT2,missense_variant,p.Leu522Val,ENST00000540509,;ECT2,missense_variant,p.Leu165Val,ENST00000444250,;ECT2,missense_variant,p.Leu491Val,ENST00000441497,;ECT2,missense_variant,p.Leu490Val,ENST00000417960,;ECT2,missense_variant,p.Leu522Val,ENST00000392692,;	1740	59	103	SUCCESS
CCDC39	339829	.	GRCh37	3	180379687	180379687	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	93	171	0	ENST00000442201.2:c.319G>A	p.Glu107Lys	p.E107K	ENST00000442201	NM_181426.1	107	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46964.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCATTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	tolerated(0.07)	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,missense_variant,p.Glu89Lys,ENST00000471307,;CCDC39,missense_variant,p.Glu191Lys,ENST00000273654,;CCDC39,missense_variant,p.Glu107Lys,ENST00000442201,;CCDC39,missense_variant,p.Glu107Lys,ENST00000476379,;	439	171	242	SUCCESS
MAGEF1	64110	.	GRCh37	3	184429554	184429554	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	53	97	0	ENST00000317897.3:c.56A>G	p.Lys19Arg	p.K19R	ENST00000317897	NM_022149.4	19	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3269.1	56	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTTCTCC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF61	.	.	ENSP00000315064	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317897	Transcript	.	.	ENSG00000177383	29639	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.97)	.	MAGF1_HUMAN	MAGEF1	HGNC	.	.	UPI0000140198	SNV	MAGEF1,missense_variant,p.Lys19Arg,ENST00000317897,;	283	97	115	SUCCESS
MUC4	4585	.	GRCh37	3	195506646	195506646	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	8	122	0	ENST00000463781.3:c.11805C>A	p.Thr3935=	p.T3935=	ENST00000463781	NM_018406.6	3935	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54700.1	11805	MUTECT|MUSE	.	AGAGGGGTGGC	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	12265	122	184	SUCCESS
KIF15	56992	.	GRCh37	3	44869717	44869717	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	46	81	0	ENST00000326047.4:c.2868A>G	p.Val956=	p.V956=	ENST00000326047	NM_020242.2	956	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS33744.1	2868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTACAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115	.	.	ENSP00000324020	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000326047	Transcript	.	.	ENSG00000163808	17273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF15_HUMAN	KIF15	HGNC	D6RCT7_HUMAN	.	UPI000006DB0E	SNV	KIF15,synonymous_variant,p.%3D,ENST00000425755,;KIF15,synonymous_variant,p.%3D,ENST00000326047,;KIF15,downstream_gene_variant,,ENST00000481166,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,3_prime_UTR_variant,,ENST00000453693,;	3017	81	91	SUCCESS
COL7A1	1294	.	GRCh37	3	48614152	48614152	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	70	0	ENST00000328333.8:c.5657A>T	p.Gln1886Leu	p.Q1886L	ENST00000328333	NM_000094.3	1886	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2773.1	5657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	67/118	.	.	.	.	.	.	.	.	CD993040	67/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Gln1886Leu,ENST00000328333,;COL7A1,intron_variant,,ENST00000454817,;MIR711,downstream_gene_variant,,ENST00000390201,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;	5765	70	97	SUCCESS
CELSR3	1951	.	GRCh37	3	48683636	48683636	+	synonymous_variant	Silent	SNP	G	G	A	rs375748006	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	54	102	0	ENST00000164024.4:c.7350C>T	p.His2450=	p.H2450=	ENST00000164024	NM_001407.2	2450	caC/caT	0	A:0.0005	.	.	.	.	A	H	protein_coding	YES	CCDS2775.1	7350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCGTGGAA	NONE	byFrequency|byCluster	.	Pfam_domain:PF12003,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	A:0	ENSP00000164024	.	22/35	.	.	.	.	.	.	.	.	rs375748006	22/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,synonymous_variant,p.%3D,ENST00000544264,;CELSR3,synonymous_variant,p.%3D,ENST00000164024,;MIR4793,upstream_gene_variant,,ENST00000577502,;CELSR3,upstream_gene_variant,,ENST00000461362,;CELSR3,upstream_gene_variant,,ENST00000470999,;CELSR3,upstream_gene_variant,,ENST00000498057,;	7631	102	124	SUCCESS
LRIG1	26018	.	GRCh37	3	66434613	66434613	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	91	143	0	ENST00000273261.3:c.1873C>T	p.His625Tyr	p.H625Y	ENST00000273261	NM_015541.2	625	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS33783.1	1873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGACCTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS50835	.	.	ENSP00000273261	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0)	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,missense_variant,p.His649Tyr,ENST00000383703,;LRIG1,missense_variant,p.His625Tyr,ENST00000273261,;SLC25A26,intron_variant,,ENST00000536651,;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,intron_variant,,ENST00000464350,;	2398	143	192	SUCCESS
FAM19A4	0	.	GRCh37	3	68934375	68934375	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	43	0	ENST00000295569.7:c.-36T>A		p.*12*	ENST00000295569	NM_182522.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2907.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGATATAT	NONE	.	.	.	.	.	ENSP00000295569	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000295569	Transcript	.	.	ENSG00000163377	21591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F19A4_HUMAN	FAM19A4	HGNC	C9JUW7_HUMAN	.	UPI0000071129	SNV	FAM19A4,5_prime_UTR_variant,,ENST00000495737,;FAM19A4,5_prime_UTR_variant,,ENST00000295569,;RNA5SP135,downstream_gene_variant,,ENST00000517019,;	458	43	66	SUCCESS
CLGN	1047	.	GRCh37	4	141334243	141334243	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	92	301	0	ENST00000325617.5:c.-9-2A>T		p.X3_splice	ENST00000325617	NM_004362.2	3		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3751.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTGTGAA	NONE	.	.	.	.	.	ENSP00000326699	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	HIGH	1/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	SNV	CLGN,splice_acceptor_variant,,ENST00000414773,;CLGN,splice_acceptor_variant,,ENST00000325617,;CLGN,splice_acceptor_variant,,ENST00000537281,;CLGN,splice_acceptor_variant,,ENST00000509477,;	.	301	225	SUCCESS
INPP4B	8821	.	GRCh37	4	143067061	143067061	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	76	114	0	ENST00000262992.4:c.1652G>C	p.Gly551Ala	p.G551A	ENST00000262992	NM_001101669.1	551	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS3757.1	1652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCCTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.6)	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,missense_variant,p.Gly366Ala,ENST00000511838,;INPP4B,missense_variant,p.Gly551Ala,ENST00000508116,;INPP4B,missense_variant,p.Gly551Ala,ENST00000509777,;INPP4B,missense_variant,p.Gly422Ala,ENST00000514525,;INPP4B,missense_variant,p.Gly551Ala,ENST00000262992,;INPP4B,missense_variant,p.Gly551Ala,ENST00000513000,;INPP4B,missense_variant,p.Gly551Ala,ENST00000308502,;INPP4B,missense_variant,p.Gly551Ala,ENST00000510812,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;	2086	114	101	SUCCESS
PDGFRA	5156	.	GRCh37	4	55156601	55156601	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	57	144	0	ENST00000257290.5:c.3002A>T	p.Lys1001Met	p.K1001M	ENST00000257290	NM_006206.4	1001	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS3495.1	3002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAAGGACT	NONE	.	.	hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	.	.	ENSP00000257290	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	FIP1L1,missense_variant,p.Lys761Met,ENST00000507166,;PDGFRA,missense_variant,p.Lys1001Met,ENST00000257290,;	3333	144	89	SUCCESS
PDGFRA	5156	.	GRCh37	4	55156602	55156602	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373642812	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	59	144	0	ENST00000257290.5:c.3003G>T	p.Lys1001Asn	p.K1001N	ENST00000257290	NM_006206.4	1001	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS3495.1	3003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGACTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	.	.	ENSP00000257290	.	22/23	.	.	.	.	.	.	.	.	rs373642812	22/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.19)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	FIP1L1,missense_variant,p.Lys761Asn,ENST00000507166,;PDGFRA,missense_variant,p.Lys1001Asn,ENST00000257290,;	3334	144	90	SUCCESS
PDE6B	5158	.	GRCh37	4	629748	629748	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369318359	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	42	0	ENST00000496514.1:c.701G>T	p.Arg234Leu	p.R234L	ENST00000496514		234	cGc/cTc	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS33932.1	701	MUTECT|MUSE	.	GACGCGCCGCG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF55781,Gene3D:3.30.450.40,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	.	A:0	ENSP00000420295	.	3/22	.	.	.	.	.	.	.	.	rs369318359	3/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.Arg234Leu,ENST00000496514,;PDE6B,missense_variant,p.Arg234Leu,ENST00000255622,;	722	42	35	SUCCESS
ANKHD1	54882	.	GRCh37	5	139828827	139828827	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs887291683	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	457	180	288	0	ENST00000360839.2:c.1179A>T	p.Glu393Asp	p.E393D	ENST00000360839	NM_017747.2	393	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS4224.1	1179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAAGCTGG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403	.	.	ENSP00000297183	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Glu393Asp,ENST00000297183,;ANKHD1,missense_variant,p.Glu393Asp,ENST00000394723,;ANKHD1,missense_variant,p.Glu393Asp,ENST00000360839,;ANKHD1,missense_variant,p.Glu382Asp,ENST00000394722,;ANKHD1,missense_variant,p.Glu393Asp,ENST00000421134,;ANKHD1-EIF4EBP3,missense_variant,p.Glu393Asp,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000511151,;	1303	288	637	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140308283	140308283	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	40	58	0	ENST00000253807.2:c.1806G>A	p.Arg602=	p.R602=	ENST00000253807	NM_018898.3	602	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4241.1	1806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGGGCGTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,PROSITE_profiles:PS50268	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,synonymous_variant,p.%3D,ENST00000253807,;PCDHAC1,synonymous_variant,p.%3D,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1806	58	142	SUCCESS
NMUR2	56923	.	GRCh37	5	151784217	151784217	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756384094	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	35	74	0	ENST00000255262.3:c.458G>A	p.Arg153His	p.R153H	ENST00000255262	NM_020167.4	153	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS4321.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGCGGAAC	SITE|p.R153H|c.458G>A|3	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01567	.	.	ENSP00000255262	.	1/4	.	.	.	.	.	.	.	.	rs756384094,COSM1726608	1/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.953)	.	tolerated(0.09)	0,1	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,missense_variant,p.Arg153His,ENST00000255262,;NMUR2,intron_variant,,ENST00000518933,;	624	74	153	SUCCESS
GABRA6	2559	.	GRCh37	5	161112735	161112735	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	9	0	ENST00000274545.5:c.-261G>A		p.*87*	ENST00000274545				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4356.1	.	MUTECT|MUSE	.	CAGAGGAGCCT	NONE	.	.	.	.	.	ENSP00000274545	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,5_prime_UTR_variant,,ENST00000274545,;GABRA6,upstream_gene_variant,,ENST00000523217,;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000517823,;GABRA6,upstream_gene_variant,,ENST00000523691,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000518888,;GABRA6,intron_variant,,ENST00000522269,;GABRA6,upstream_gene_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	173	9	17	SUCCESS
MYO10	4651	.	GRCh37	5	16766245	16766245	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	55	111	0	ENST00000513610.1:c.1123C>A	p.Gln375Lys	p.Q375K	ENST00000513610	NM_012334.2	375	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS54834.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGGGTCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	11/41	.	.	.	.	.	.	.	.	.	11/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.05)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Gln386Lys,ENST00000513882,;MYO10,missense_variant,p.Gln375Lys,ENST00000513610,;	1578	111	189	SUCCESS
MYO10	4651	.	GRCh37	5	16766246	16766246	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	55	111	0	ENST00000513610.1:c.1122C>A	p.Thr374=	p.T374=	ENST00000513610	NM_012334.2	374	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54834.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGGTCAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	11/41	.	.	.	.	.	.	.	.	.	11/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,synonymous_variant,p.%3D,ENST00000513882,;MYO10,synonymous_variant,p.%3D,ENST00000513610,;	1577	111	189	SUCCESS
SIMC1	375484	.	GRCh37	5	175665522	175665522	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs866802577	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	35	0	ENST00000443967.1:c.-255T>A		p.*85*	ENST00000443967		4		0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS4398.2	11	MUTECT|VARSCANS	.	GGATTTCATCG	NONE	.	.	.	.	.	ENSP00000342075	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.294)	.	tolerated_low_confidence(0.41)	.	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,missense_variant,p.Phe4Tyr,ENST00000430704,;SIMC1,missense_variant,p.Phe4Tyr,ENST00000429602,;SIMC1,missense_variant,p.Phe4Tyr,ENST00000341199,;SIMC1,5_prime_UTR_variant,,ENST00000443967,;SIMC1,non_coding_transcript_exon_variant,,ENST00000467472,;SIMC1,non_coding_transcript_exon_variant,,ENST00000508769,;SIMC1,upstream_gene_variant,,ENST00000514128,;SIMC1,non_coding_transcript_exon_variant,,ENST00000495423,;	158	36	58	SUCCESS
PRELID1	27166	.	GRCh37	5	176733251	176733251	+	intron_variant	Intron	SNP	A	A	G	rs575089159	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	60	0	ENST00000303204.4:c.511+74A>G		p.*171*	ENST00000303204	NM_013237.3			0	.	C:0.0008	.	C:0	.	G	.	protein_coding	YES	CCDS4416.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTAGTCAT	NONE	by1000G	955	.	C:0	.	ENSP00000401867	C:0	.	.	.	.	.	.	.	.	.	rs575089159	.	PASS	ENST00000439742	Transcript	.	C:0.0002	ENSG00000213347	14008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	MAD3_HUMAN	MXD3	HGNC	D6RD21_HUMAN	.	UPI00000437EB	SNV	MXD3,3_prime_UTR_variant,,ENST00000427908,;PRELID1,intron_variant,,ENST00000303204,;PRELID1,intron_variant,,ENST00000503853,;PRELID1,intron_variant,,ENST00000503216,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;RAB24,upstream_gene_variant,,ENST00000504395,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;MXD3,intron_variant,,ENST00000509339,;PRELID1,intron_variant,,ENST00000504594,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;PRELID1,downstream_gene_variant,,ENST00000510797,;MXD3,downstream_gene_variant,,ENST00000503782,;PRELID1,downstream_gene_variant,,ENST00000511309,;RAB24,upstream_gene_variant,,ENST00000512758,;PRELID1,downstream_gene_variant,,ENST00000510701,;RAB24,upstream_gene_variant,,ENST00000495458,;	.	60	82	SUCCESS
PRKAA1	5562	.	GRCh37	5	40764913	40764913	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	117	97	0	ENST00000397128.2:c.1249C>G	p.Pro417Ala	p.P417A	ENST00000397128	NM_006251.5	417	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS3933.2	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGGTCGAC	NONE	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF81,Superfamily_domains:SSF103243	.	.	ENSP00000346148	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000354209	Transcript	.	.	ENSG00000132356	9376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	deleterious(0.03)	.	AAPK1_HUMAN	PRKAA1	HGNC	.	.	UPI00003529FB	SNV	PRKAA1,missense_variant,p.Pro417Ala,ENST00000397128,;PRKAA1,missense_variant,p.Pro432Ala,ENST00000354209,;PRKAA1,downstream_gene_variant,,ENST00000296800,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000505783,;PRKAA1,downstream_gene_variant,,ENST00000506652,;PRKAA1,downstream_gene_variant,,ENST00000509874,;PRKAA1,upstream_gene_variant,,ENST00000513152,;	1479	97	196	SUCCESS
AIM1	0	.	GRCh37	6	106992501	106992501	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	56	93	0	ENST00000369066.3:c.3871G>A	p.Gly1291Arg	p.G1291R	ENST00000369066	NM_001624.2	1291	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS34506.1	3871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGGAGAA	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367	.	.	ENSP00000358062	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,missense_variant,p.Gly110Arg,ENST00000457437,;AIM1,missense_variant,p.Gly1291Arg,ENST00000369066,;AIM1,missense_variant,p.Gly110Arg,ENST00000535438,;AIM1,non_coding_transcript_exon_variant,,ENST00000487681,;	4358	93	136	SUCCESS
SLC35F1	222553	.	GRCh37	6	118228786	118228786	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	11	0	ENST00000360388.4:c.-104C>T		p.*35*	ENST00000360388	NM_001029858.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34524.1	.	MUTECT|MUSE	.	CCGGGCCGCGG	NONE	.	.	.	.	.	ENSP00000353557	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000360388	Transcript	.	.	ENSG00000196376	21483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S35F1_HUMAN	SLC35F1	HGNC	B4DJ02_HUMAN,B3KY53_HUMAN	.	UPI00001609C1	SNV	SLC35F1,5_prime_UTR_variant,,ENST00000360388,;	98	11	9	SUCCESS
BCLAF1	9774	.	GRCh37	6	136599264	136599264	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1478646288	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	37	135	0	ENST00000531224.1:c.755A>C	p.His252Pro	p.H252P	ENST00000531224	NM_001077441.1	252	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS5177.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTGAACT	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	.	.	ENSP00000435210	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious(0.04)	.	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.His252Pro,ENST00000529826,;BCLAF1,missense_variant,p.His252Pro,ENST00000527536,;BCLAF1,missense_variant,p.His250Pro,ENST00000392348,;BCLAF1,missense_variant,p.His252Pro,ENST00000530767,;BCLAF1,missense_variant,p.His252Pro,ENST00000531224,;BCLAF1,missense_variant,p.His250Pro,ENST00000353331,;BCLAF1,missense_variant,p.His250Pro,ENST00000527759,;BCLAF1,missense_variant,p.His252Pro,ENST00000527613,;BCLAF1,missense_variant,p.His250Pro,ENST00000534269,;BCLAF1,missense_variant,p.His250Pro,ENST00000530429,;BCLAF1,missense_variant,p.His252Pro,ENST00000532384,;BCLAF1,upstream_gene_variant,,ENST00000533621,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	1008	135	207	SUCCESS
GRM4	2914	.	GRCh37	6	34003690	34003690	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774098056	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	67	0	ENST00000538487.2:c.2197C>T	p.Arg733Trp	p.R733W	ENST00000538487	NM_000841.2	733	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4787.1	2197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCGCTGGT	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR01054	.	.	ENSP00000440556	.	9/11	.	.	.	.	.	.	.	.	rs774098056,COSM1078189,COSM1078191,COSM1078190	9/11	PASS	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.992)	.	deleterious(0)	0,1,1,1	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,missense_variant,p.Arg564Trp,ENST00000544773,;GRM4,missense_variant,p.Arg733Trp,ENST00000374181,;GRM4,missense_variant,p.Arg600Trp,ENST00000609222,;GRM4,missense_variant,p.Arg593Trp,ENST00000455714,;GRM4,missense_variant,p.Arg600Trp,ENST00000535756,;GRM4,missense_variant,p.Arg617Trp,ENST00000374177,;GRM4,missense_variant,p.Arg733Trp,ENST00000538487,;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	2641	67	119	SUCCESS
MMS22L	253714	.	GRCh37	6	97613250	97613250	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	61	82	0	ENST00000275053.4:c.3093T>G	p.Ile1031Met	p.I1031M	ENST00000275053	NM_198468.2	1031	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS5039.1	3093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCAATATA	NONE	.	.	Pfam_domain:PF14911	.	.	ENSP00000275053	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000275053	Transcript	.	.	ENSG00000146263	21475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	deleterious(0.04)	.	MMS22_HUMAN	MMS22L	HGNC	H9KVD8_HUMAN	.	UPI00003673C9	SNV	MMS22L,missense_variant,p.Ile1031Met,ENST00000275053,;MMS22L,missense_variant,p.Ile991Met,ENST00000369251,;MMS22L,upstream_gene_variant,,ENST00000514790,;	3359	82	117	SUCCESS
MUC17	140453	.	GRCh37	7	100681743	100681743	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1235271194	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	70	62	0	ENST00000306151.4:c.7046T>C	p.Met2349Thr	p.M2349T	ENST00000306151	NM_001040105.1	2349	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS34711.1	7046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAATGGTGG	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Met2349Thr,ENST00000306151,;MUC17,missense_variant,p.Met2349Thr,ENST00000379439,;	7110	62	117	SUCCESS
LAMB1	3912	.	GRCh37	7	107577640	107577684	+	inframe_deletion	In_Frame_Del	DEL	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	120	18	78	0	ENST00000222399.6:c.3800_3844del	p.Val1267_Thr1281del	p.V1267_T1281del	ENST00000222399	NM_002291.2	1267	gTAGAAGTGAAATTATCTGACACAACTTCCCAAAGCAACAGCACAGcc/gcc	0	.	.	.	.	.	-	VEVKLSDTTSQSNSTA/A	protein_coding	YES	CCDS5750.1	3800-3844	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTGGCTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTACTTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574	.	.	ENSP00000222399	.	26/34	.	.	.	.	.	.	.	.	.	26/34	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	deletion	LAMB1,inframe_deletion,p.Val1291_Thr1305del,ENST00000393561,;LAMB1,inframe_deletion,p.Val1267_Thr1281del,ENST00000222399,;CTB-13F3.1,upstream_gene_variant,,ENST00000608515,;LAMB1,non_coding_transcript_exon_variant,,ENST00000468999,;LAMB1,upstream_gene_variant,,ENST00000468518,;LAMB1,upstream_gene_variant,,ENST00000491196,;LAMB1,upstream_gene_variant,,ENST00000470995,;LAMB1,upstream_gene_variant,,ENST00000474380,;	4031-4075	78	138	SUCCESS
GPR85	54329	.	GRCh37	7	112724864	112724864	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	66	92	0	ENST00000297146.3:c.-88A>G		p.*30*	ENST00000297146	NM_001146266.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5758.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACTGAAAA	NONE	.	.	.	.	.	ENSP00000297146	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297146	Transcript	.	.	ENSG00000164604	4536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR85_HUMAN	GPR85	HGNC	C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN	.	UPI0000004048	SNV	GPR85,5_prime_UTR_variant,,ENST00000297146,;GPR85,5_prime_UTR_variant,,ENST00000438062,;GPR85,5_prime_UTR_variant,,ENST00000449735,;GPR85,5_prime_UTR_variant,,ENST00000501255,;GPR85,5_prime_UTR_variant,,ENST00000424100,;GPR85,5_prime_UTR_variant,,ENST00000449591,;GPR85,non_coding_transcript_exon_variant,,ENST00000487573,;GPR85,5_prime_UTR_variant,,ENST00000610164,;	517	92	195	SUCCESS
CADPS2	93664	.	GRCh37	7	122056186	122056186	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1227026317	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	32	0	ENST00000449022.2:c.2509C>A	p.Leu837Met	p.L837M	ENST00000449022	NM_017954.10	837	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS55158.1	2509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGCTTTC	NONE	.	.	Pfam_domain:PF06292,hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	.	.	ENSP00000398481	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.04)	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,missense_variant,p.Leu837Met,ENST00000449022,;CADPS2,missense_variant,p.Leu483Met,ENST00000397721,;CADPS2,missense_variant,p.Leu838Met,ENST00000334010,;CADPS2,missense_variant,p.Leu31Met,ENST00000462699,;CADPS2,missense_variant,p.Leu834Met,ENST00000313070,;CADPS2,missense_variant,p.Leu834Met,ENST00000412584,;RP5-1101C3.1,intron_variant,,ENST00000593910,;RP5-1101C3.1,intron_variant,,ENST00000591140,;	2529	32	79	SUCCESS
ZNF746	155061	.	GRCh37	7	149171588	149171588	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1358694651	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	54	0	ENST00000340622.3:c.1822C>T	p.Pro608Ser	p.P608S	ENST00000340622		608	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS55180.1	1825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGAGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000395007	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000458143	Transcript	.	.	ENSG00000181220	21948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0.03)	.	ZN746_HUMAN	ZNF746	HGNC	Q96N48_HUMAN	.	UPI00015DA840	SNV	ZNF746,missense_variant,p.Pro608Ser,ENST00000340622,;ZNF746,missense_variant,p.Pro609Ser,ENST00000458143,;ZNF746,downstream_gene_variant,,ENST00000471735,;	2096	54	69	SUCCESS
RADIL	55698	.	GRCh37	7	4839835	4839835	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	28	40	0	ENST00000399583.3:c.2949C>A	p.Pro983=	p.P983=	ENST00000399583	NM_018059.4	983	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43544.1	2949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGAGGGGCC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3,Gene3D:2.30.42.10,Pfam_domain:PF00595,Superfamily_domains:SSF50156	.	.	ENSP00000382492	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000399583	Transcript	.	.	ENSG00000157927	22226	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RADIL_HUMAN	RADIL	HGNC	F5H6X3_HUMAN,C9J7G0_HUMAN	.	UPI0000E0A787	SNV	RADIL,synonymous_variant,p.%3D,ENST00000399583,;RADIL,synonymous_variant,p.%3D,ENST00000538469,;RADIL,3_prime_UTR_variant,,ENST00000536091,;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;	3137	40	96	SUCCESS
KRIT1	889	.	GRCh37	7	91865731	91865731	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	42	38	0	ENST00000340022.2:c.481del	p.Asp161IlefsTer4	p.D161Ifs*4	ENST00000340022	NM_004912.3	161	Gat/at	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS5624.1	481	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTATCCAAGG	NONE	.	.	hmmpanther:PTHR13283	.	.	ENSP00000378015	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000394507	Transcript	.	.	ENSG00000001631	1573	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KRIT1_HUMAN	KRIT1	HGNC	C9JXI9_HUMAN,C9JSG7_HUMAN,C9JJM9_HUMAN,C9JI47_HUMAN,C9JF32_HUMAN,C9JEW7_HUMAN,C9JD81_HUMAN,C9JBN7_HUMAN,C9J718_HUMAN,C9J3W7_HUMAN,A4D1F7_HUMAN	.	UPI000006F5AA	deletion	KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000394505,;KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000433016,;KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000340022,;KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000394503,;KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000412043,;KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000458177,;KRIT1,frameshift_variant,p.Asp161IlefsTer4,ENST00000394507,;KRIT1,frameshift_variant,p.Asp161IlefsTer?,ENST00000454017,;KRIT1,downstream_gene_variant,,ENST00000413688,;KRIT1,upstream_gene_variant,,ENST00000445516,;KRIT1,downstream_gene_variant,,ENST00000430102,;KRIT1,downstream_gene_variant,,ENST00000425919,;KRIT1,downstream_gene_variant,,ENST00000458493,;KRIT1,downstream_gene_variant,,ENST00000452773,;KRIT1,downstream_gene_variant,,ENST00000440209,;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,upstream_gene_variant,,ENST00000475770,;KRIT1,downstream_gene_variant,,ENST00000470309,;	1265	38	176	SUCCESS
COL1A2	1278	.	GRCh37	7	94024181	94024181	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	12	0	ENST00000297268.6:c.-163A>T		p.*55*	ENST00000297268	NM_000089.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34682.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAGGGCA	NONE	.	.	.	.	.	ENSP00000297268	.	1/52	.	.	.	.	.	.	.	.	.	1/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,5_prime_UTR_variant,,ENST00000297268,;	309	12	20	SUCCESS
ATP5J2-PTCD1	0	.	GRCh37	7	99055817	99055817	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	10	0	ENST00000413834.1:c.121+1892C>T		p.*41*	ENST00000413834				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5665.1	.	MUTECT|MUSE	.	CACACGTACCA	NONE	.	1	.	.	.	ENSP00000292475	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292475	Transcript	.	.	ENSG00000241468	848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATPK_HUMAN	ATP5J2	HGNC	.	.	UPI000013E0BE	SNV	ATP5J2,3_prime_UTR_variant,,ENST00000449683,;PTCD1,intron_variant,,ENST00000555673,;ATP5J2-PTCD1,intron_variant,,ENST00000413834,;PTCD1,intron_variant,,ENST00000430982,;CPSF4,downstream_gene_variant,,ENST00000440514,;ATP5J2,downstream_gene_variant,,ENST00000523680,;CPSF4,downstream_gene_variant,,ENST00000436336,;CPSF4,downstream_gene_variant,,ENST00000451876,;ATP5J2,downstream_gene_variant,,ENST00000292475,;ATP5J2,downstream_gene_variant,,ENST00000488775,;ATP5J2,downstream_gene_variant,,ENST00000544611,;CPSF4,downstream_gene_variant,,ENST00000292476,;ATP5J2,downstream_gene_variant,,ENST00000394186,;CPSF4,downstream_gene_variant,,ENST00000452047,;ATP5J2,downstream_gene_variant,,ENST00000359832,;CPSF4,downstream_gene_variant,,ENST00000441580,;ATP5J2,intron_variant,,ENST00000466753,;ATP5J2-PTCD1,intron_variant,,ENST00000437572,;CPSF4,downstream_gene_variant,,ENST00000471455,;ATP5J2,splice_region_variant,,ENST00000414062,;ATP5J2-PTCD1,intron_variant,,ENST00000451138,;ATP5J2,downstream_gene_variant,,ENST00000485011,;CPSF4,downstream_gene_variant,,ENST00000469897,;ATP5J2,downstream_gene_variant,,ENST00000491560,;CPSF4,downstream_gene_variant,,ENST00000465132,;ATP5J2,downstream_gene_variant,,ENST00000481899,;ATP5J2,downstream_gene_variant,,ENST00000524321,;	.	10	23	SUCCESS
VPS13B	157680	.	GRCh37	8	100128060	100128060	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758289182	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	373	157	229	0	ENST00000358544.2:c.895G>T	p.Asp299Tyr	p.D299Y	ENST00000358544	NM_017890.4	299	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS6280.1	895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGGACCTT	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	7/62	.	.	.	.	.	.	.	.	rs758289182	7/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Asp299Tyr,ENST00000441350,;VPS13B,missense_variant,p.Asp299Tyr,ENST00000355155,;VPS13B,missense_variant,p.Asp299Tyr,ENST00000395996,;VPS13B,missense_variant,p.Asp299Tyr,ENST00000358544,;VPS13B,missense_variant,p.Asp299Tyr,ENST00000357162,;CTD-2340D6.1,upstream_gene_variant,,ENST00000523226,;VPS13B,intron_variant,,ENST00000524330,;VPS13B,missense_variant,p.Asp299Tyr,ENST00000496144,;	1006	229	530	SUCCESS
C8orf33	65265	.	GRCh37	8	146278796	146278796	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1269844120	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	58	0	ENST00000331434.6:c.517G>A	p.Glu173Lys	p.E173K	ENST00000331434	NM_023080.2	173	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34974.1	517	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGAATGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13602,hmmpanther:PTHR13602:SF1,Pfam_domain:PF15393	.	.	ENSP00000330361	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000331434	Transcript	.	.	ENSG00000182307	26104	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	CH033_HUMAN	C8orf33	HGNC	.	.	UPI0000070F82	SNV	C8orf33,missense_variant,p.Glu173Lys,ENST00000331434,;C8orf33,non_coding_transcript_exon_variant,,ENST00000534350,;C8orf33,non_coding_transcript_exon_variant,,ENST00000529593,;C8orf33,non_coding_transcript_exon_variant,,ENST00000530455,;C8orf33,non_coding_transcript_exon_variant,,ENST00000524395,;AC139103.1,downstream_gene_variant,,ENST00000534696,;	631	58	96	SUCCESS
ATP6V1H	51606	.	GRCh37	8	54669202	54669202	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	73	0	ENST00000359530.2:c.1190T>G	p.Leu397Arg	p.L397R	ENST00000359530	NM_015941.3	397	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS6153.1	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAAGTTTT	NONE	.	.	hmmpanther:PTHR10698,hmmpanther:PTHR10698:SF0,Pfam_domain:PF11698,Gene3D:1ho8A02,PIRSF_domain:PIRSF032184,Superfamily_domains:SSF48371	.	.	ENSP00000352522	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000359530	Transcript	.	.	ENSG00000047249	18303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VATH_HUMAN	ATP6V1H	HGNC	G3V126_HUMAN,E5RHH0_HUMAN,E5RG49_HUMAN	.	UPI0000000966	SNV	ATP6V1H,missense_variant,p.Leu397Arg,ENST00000396774,;ATP6V1H,missense_variant,p.Leu379Arg,ENST00000355221,;ATP6V1H,missense_variant,p.Leu397Arg,ENST00000359530,;ATP6V1H,missense_variant,p.Leu357Arg,ENST00000520188,;ATP6V1H,non_coding_transcript_exon_variant,,ENST00000523426,;ATP6V1H,intron_variant,,ENST00000523343,;ATP6V1H,intron_variant,,ENST00000523899,;ATP6V1H,3_prime_UTR_variant,,ENST00000524164,;ATP6V1H,non_coding_transcript_exon_variant,,ENST00000521707,;	1454	73	83	SUCCESS
NKAIN3	286183	.	GRCh37	8	63161677	63161677	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	73	0	ENST00000523211.1:c.45G>T	p.Ala15=	p.A15=	ENST00000523211	NM_173688.2	15	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55239.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCGCTGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR13084:SF2,hmmpanther:PTHR13084,Pfam_domain:PF05640	.	.	ENSP00000429073	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000523211	Transcript	.	.	ENSG00000185942	26829	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKAI3_HUMAN	NKAIN3	HGNC	.	.	UPI000006F596	SNV	NKAIN3,synonymous_variant,p.%3D,ENST00000523211,;NKAIN3,synonymous_variant,p.%3D,ENST00000328472,;NKAIN3,synonymous_variant,p.%3D,ENST00000524201,;NKAIN3,non_coding_transcript_exon_variant,,ENST00000523367,;NKAIN3,non_coding_transcript_exon_variant,,ENST00000519049,;	177	73	73	SUCCESS
INTS8	55656	.	GRCh37	8	95879510	95879510	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs778617408	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	374	271	0	ENST00000523731.1:c.2359A>G	p.Ile787Val	p.I787V	ENST00000523731	NM_017864.3	787	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34925.1	2359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACATTGTG	NONE	.	.	hmmpanther:PTHR13350	.	.	ENSP00000430338	.	20/27	.	.	.	.	.	.	.	.	rs778617408	20/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.11)	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,missense_variant,p.Ile609Val,ENST00000520526,;INTS8,missense_variant,p.Ile787Val,ENST00000447247,;INTS8,missense_variant,p.Ile787Val,ENST00000523731,;INTS8,non_coding_transcript_exon_variant,,ENST00000520845,;INTS8,non_coding_transcript_exon_variant,,ENST00000517918,;INTS8,3_prime_UTR_variant,,ENST00000520315,;INTS8,3_prime_UTR_variant,,ENST00000343161,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,non_coding_transcript_exon_variant,,ENST00000521155,;INTS8,non_coding_transcript_exon_variant,,ENST00000522261,;INTS8,non_coding_transcript_exon_variant,,ENST00000519736,;INTS8,upstream_gene_variant,,ENST00000523352,;INTS8,downstream_gene_variant,,ENST00000520853,;	2492	271	587	SUCCESS
OR1N1	138883	.	GRCh37	9	125288746	125288746	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	44	68	0	ENST00000304880.2:c.827A>C	p.Tyr276Ser	p.Y276S	ENST00000304880	NM_012363.1	276	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS6844.1	827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTACATT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF218,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306974	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304880	Transcript	.	.	ENSG00000171505	8221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR1N1_HUMAN	OR1N1	HGNC	.	.	UPI0000041D08	SNV	OR1N1,missense_variant,p.Tyr276Ser,ENST00000304880,;	827	68	104	SUCCESS
AK1	203	.	GRCh37	9	130630625	130630625	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs137853203	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	22	30	0	ENST00000373156.1:c.491A>G	p.Tyr164Cys	p.Y164C	ENST00000373156		164	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6881.1	491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TCTCATAGAAG	NONE	.	.	HAMAP:MF_00235,HAMAP:MF_03171,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF59,TIGRFAM_domain:TIGR01360,Pfam_domain:PF00406,Gene3D:3.40.50.300,Superfamily_domains:SSF52540,Prints_domain:PR00094	.	.	ENSP00000362271	.	6/7	.	.	.	.	.	.	.	.	CM970075,rs137853203	6/7	PASS	ENST00000373176	Transcript	.	.	ENSG00000106992	361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	.	KAD1_HUMAN	AK1	HGNC	Q6FGX9_HUMAN	.	UPI000012DB89	SNV	AK1,missense_variant,p.Tyr164Cys,ENST00000373156,;AK1,missense_variant,p.Tyr164Cys,ENST00000373176,;AK1,missense_variant,p.Tyr105Cys,ENST00000413016,;AK1,missense_variant,p.Tyr180Cys,ENST00000223836,;MIR4672,downstream_gene_variant,,ENST00000583126,;RP11-203J24.9,non_coding_transcript_exon_variant,,ENST00000476274,;RP11-203J24.9,downstream_gene_variant,,ENST00000548587,;AK1,3_prime_UTR_variant,,ENST00000550143,;AK1,downstream_gene_variant,,ENST00000550992,;	644	30	38	SUCCESS
AIF1L	83543	.	GRCh37	9	133993147	133993147	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	80	0	ENST00000247291.3:c.207G>T	p.Leu69=	p.L69=	ENST00000247291	NM_031426.3	69	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55348.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGATGTC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10356,hmmpanther:PTHR10356:SF3,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000361383	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000372309	Transcript	.	.	ENSG00000126878	28904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIF1L_HUMAN	AIF1L	HGNC	A6PVM9_HUMAN	.	UPI00001C1012	SNV	AIF1L,synonymous_variant,p.%3D,ENST00000372309,;AIF1L,synonymous_variant,p.%3D,ENST00000372298,;AIF1L,synonymous_variant,p.%3D,ENST00000372302,;AIF1L,synonymous_variant,p.%3D,ENST00000247291,;AIF1L,synonymous_variant,p.%3D,ENST00000372312,;AIF1L,synonymous_variant,p.%3D,ENST00000372301,;AIF1L,synonymous_variant,p.%3D,ENST00000372300,;AIF1L,synonymous_variant,p.%3D,ENST00000372297,;AIF1L,downstream_gene_variant,,ENST00000472942,;AIF1L,3_prime_UTR_variant,,ENST00000372314,;	439	80	77	SUCCESS
NUP214	8021	.	GRCh37	9	134073951	134073951	+	synonymous_variant	Silent	SNP	T	T	G	rs748199295	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	108	149	0	ENST00000359428.5:c.5070T>G	p.Thr1690=	p.T1690=	ENST00000359428	NM_005085.3	1690	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS6940.1	5070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGGTAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	29/36	.	.	.	.	.	.	.	.	rs748199295	29/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,synonymous_variant,p.%3D,ENST00000451030,;NUP214,synonymous_variant,p.%3D,ENST00000359428,;NUP214,synonymous_variant,p.%3D,ENST00000483497,;NUP214,synonymous_variant,p.%3D,ENST00000531600,;NUP214,synonymous_variant,p.%3D,ENST00000411637,;RP11-544A12.8,upstream_gene_variant,,ENST00000502188,;NUP214,downstream_gene_variant,,ENST00000465486,;NUP214,downstream_gene_variant,,ENST00000470765,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,downstream_gene_variant,,ENST00000528114,;NUP214,downstream_gene_variant,,ENST00000529286,;NUP214,synonymous_variant,p.%3D,ENST00000453861,;NUP214,downstream_gene_variant,,ENST00000525384,;NUP214,downstream_gene_variant,,ENST00000525980,;NUP214,downstream_gene_variant,,ENST00000524578,;	5214	149	214	SUCCESS
UBAC1	10422	.	GRCh37	9	138825357	138825357	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	39	50	0	ENST00000371756.3:c.1107del	p.Phe369LeufsTer9	p.F369Lfs*9	ENST00000371756	NM_016172.2	369	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS35177.1	1107	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTTCAAATGC	NONE	.	.	SMART_domains:SM00727,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF31	.	.	ENSP00000360821	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000371756	Transcript	.	.	ENSG00000130560	30221	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBAC1_HUMAN	UBAC1	HGNC	.	.	UPI0000070A05	deletion	UBAC1,frameshift_variant,p.Phe369LeufsTer9,ENST00000371756,;UBAC1,non_coding_transcript_exon_variant,,ENST00000489050,;UBAC1,downstream_gene_variant,,ENST00000465873,;	1325	50	132	SUCCESS
IFNA14	3448	.	GRCh37	9	21239511	21239511	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767341690	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	16	122	0	ENST00000380222.2:c.424G>T	p.Ala142Ser	p.A142S	ENST00000380222	NM_002172.2	142	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6501.1	424	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCAGGA	BUFFER|p.K144R|c.431A>G|3	.	.	hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266	.	.	ENSP00000369571	.	1/1	.	.	.	.	.	.	.	.	rs767341690	1/1	PASS	ENST00000380222	Transcript	.	.	ENSG00000228083	5420	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.837)	.	deleterious(0)	.	IFN14_HUMAN	IFNA14	HGNC	.	.	UPI00000541D5	SNV	IFNA14,missense_variant,p.Ala142Ser,ENST00000380222,;	468	122	151	SUCCESS
IFNA14	3448	.	GRCh37	9	21239512	21239512	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	15	124	0	ENST00000380222.2:c.423G>C	p.Leu141=	p.L141=	ENST00000380222	NM_002172.2	141	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS6501.1	423	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCAGGAT	BUFFER|p.K144R|c.431A>G|3	.	.	hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266	.	.	ENSP00000369571	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380222	Transcript	.	.	ENSG00000228083	5420	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IFN14_HUMAN	IFNA14	HGNC	.	.	UPI00000541D5	SNV	IFNA14,synonymous_variant,p.%3D,ENST00000380222,;	467	124	151	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84606650	84606650	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368407426	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	102	143	0	ENST00000344803.2:c.1265G>T	p.Arg422Met	p.R422M	ENST00000344803	NM_001001670.2	422	aGg/aTg	0	T:0.0003	.	.	.	.	T	R/M	protein_coding	YES	CCDS47986.1	1265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGGGTG	BUFFER|p.R422fs*5|c.1258delA|4,BUFFER|p.R422fs*5|c.1258delA|4	.	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	.	T:0	ENSP00000341988	.	4/4	.	.	.	.	.	.	.	.	rs368407426	4/4	PASS	ENST00000344803	Transcript	.	.	ENSG00000214929	37283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,missense_variant,p.Arg422Met,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	1312	143	245	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	104984606	104984606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	218	200	179	1	ENST00000372582.1:c.970G>T	p.Ala324Ser	p.A324S	ENST00000372582	NM_017416.1	324	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14517.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGCTGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR01539	.	.	ENSP00000361663	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.48)	.	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,missense_variant,p.Ala324Ser,ENST00000344799,;IL1RAPL2,missense_variant,p.Ala324Ser,ENST00000372582,;IL1RAPL2,upstream_gene_variant,,ENST00000485671,;	1726	180	419	SUCCESS
AIFM1	9131	.	GRCh37	X	129270145	129270145	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	174	82	0	ENST00000287295.3:c.1180A>G	p.Ile394Val	p.I394V	ENST00000287295	NM_004208.3	394	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14618.1	1180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATGTGGT	NONE	.	.	hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF33,Gene3D:3.50.50.60,Pfam_domain:PF07992,Superfamily_domains:SSF51905,Prints_domain:PR00368,Prints_domain:PR00411	.	.	ENSP00000287295	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000287295	Transcript	.	.	ENSG00000156709	8768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(1)	.	AIFM1_HUMAN	AIFM1	HGNC	E9PMA0_HUMAN	.	UPI00001313DB	SNV	AIFM1,missense_variant,p.Ile42Val,ENST00000440263,;AIFM1,missense_variant,p.Ile390Val,ENST00000319908,;AIFM1,missense_variant,p.Ile394Val,ENST00000287295,;AIFM1,missense_variant,p.Ile55Val,ENST00000460436,;AIFM1,missense_variant,p.Ile107Val,ENST00000346424,;AIFM1,3_prime_UTR_variant,,ENST00000535724,;AIFM1,3_prime_UTR_variant,,ENST00000416073,;AIFM1,3_prime_UTR_variant,,ENST00000527892,;AIFM1,downstream_gene_variant,,ENST00000533719,;	1411	82	193	SUCCESS
CHST7	56548	.	GRCh37	X	46433907	46433907	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	46	34	0	ENST00000276055.3:c.541G>A	p.Ala181Thr	p.A181T	ENST00000276055	NM_019886.2	181	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14268.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10704:SF5,hmmpanther:PTHR10704,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883	.	.	ENSP00000276055	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000276055	Transcript	.	.	ENSG00000147119	13817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	deleterious_low_confidence(0.03)	.	CHST7_HUMAN	CHST7	HGNC	.	.	UPI000000DADD	SNV	CHST7,missense_variant,p.Ala181Thr,ENST00000276055,;	689	34	91	SUCCESS
ZMYM3	9203	.	GRCh37	X	70468643	70468643	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	27	49	0	ENST00000314425.5:c.1630C>G	p.Arg544Gly	p.R544G	ENST00000314425	NM_201599.2	544	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS14409.1	1630	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCGGGGAG	NONE	.	.	Pfam_domain:PF06467,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF32	.	.	ENSP00000343909	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000353904	Transcript	.	.	ENSG00000147130	13054	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.402)	.	tolerated(0.38)	.	ZMYM3_HUMAN	ZMYM3	HGNC	.	.	UPI000013C339	SNV	ZMYM3,missense_variant,p.Arg546Gly,ENST00000373988,;ZMYM3,missense_variant,p.Arg546Gly,ENST00000373984,;ZMYM3,missense_variant,p.Arg544Gly,ENST00000314425,;ZMYM3,missense_variant,p.Arg544Gly,ENST00000373998,;ZMYM3,missense_variant,p.Arg544Gly,ENST00000353904,;ZMYM3,downstream_gene_variant,,ENST00000373982,;ZMYM3,downstream_gene_variant,,ENST00000373978,;ZMYM3,downstream_gene_variant,,ENST00000373981,;ZMYM3,non_coding_transcript_exon_variant,,ENST00000489332,;ZMYM3,upstream_gene_variant,,ENST00000470832,;	1818	49	153	SUCCESS
GBF1	8729	.	GRCh37	10	104140434	104140434	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs142268101	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	32	65	0	ENST00000369983.3:c.5161G>C	p.Val1721Leu	p.V1721L	ENST00000369983	NM_004193.2	1721	Gtc/Ctc	0	.	A:0	.	A:0	.	C	V/L	protein_coding	YES	CCDS7533.1	5161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGTCATC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138	A:0.001	.	ENSP00000359000	A:0	38/40	.	.	.	.	.	.	.	.	rs142268101	38/40	PASS	ENST00000369983	Transcript	.	A:0.0002	ENSG00000107862	4181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	A:0	tolerated(0.19)	.	GBF1_HUMAN	GBF1	HGNC	Q149P0_HUMAN	.	UPI000012B228	SNV	GBF1,missense_variant,p.Val1721Leu,ENST00000369983,;	5421	65	51	SUCCESS
ARL3	403	.	GRCh37	10	104465227	104465227	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368901451	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	78	0	ENST00000260746.5:c.23G>A	p.Arg8His	p.R8H	ENST00000260746	NM_004311.3	8	cGc/cAc	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS7538.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCGCAAA	NONE	byCluster	.	hmmpanther:PTHR11711:SF124,hmmpanther:PTHR11711,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178	.	T:0	ENSP00000260746	.	2/6	.	.	.	.	.	.	.	.	rs368901451	2/6	PASS	ENST00000260746	Transcript	.	.	ENSG00000138175	694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	ARL3_HUMAN	ARL3	HGNC	.	.	UPI0000125EE4	SNV	ARL3,missense_variant,p.Arg8His,ENST00000260746,;	155	78	58	SUCCESS
DMBT1	1755	.	GRCh37	10	124336218	124336218	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	87	0	ENST00000338354.3:c.587A>G	p.Asp196Gly	p.D196G	ENST00000338354		196	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS44490.1	587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGATGCTG	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	7/53	.	.	.	.	.	.	.	.	.	7/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Asp196Gly,ENST00000368956,;DMBT1,missense_variant,p.Asp196Gly,ENST00000359586,;DMBT1,missense_variant,p.Asp196Gly,ENST00000330163,;DMBT1,missense_variant,p.Asp196Gly,ENST00000344338,;DMBT1,missense_variant,p.Asp196Gly,ENST00000368955,;DMBT1,missense_variant,p.Asp196Gly,ENST00000368909,;DMBT1,missense_variant,p.Asp196Gly,ENST00000338354,;	693	87	79	SUCCESS
MKI67	4288	.	GRCh37	10	129913465	129913465	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1427344802	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	112	0	ENST00000368654.3:c.1207G>C	p.Ala403Pro	p.A403P	ENST00000368654	NM_002417.4	403	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7659.1	1207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGCTGGTG	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	.	ENSP00000357643	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.731)	.	tolerated(0.06)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Ala403Pro,ENST00000368654,;MKI67,intron_variant,,ENST00000368653,;MKI67,downstream_gene_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,;	1583	112	103	SUCCESS
CYP2E1	1571	.	GRCh37	10	135352460	135352460	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759928543	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	72	0	ENST00000252945.3:c.1474C>T	p.Arg492Cys	p.R492C	ENST00000252945	NM_000773.3	492	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7686.1	1474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCGCTCA	NONE	byFrequency	.	hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000440689	.	11/11	.	.	.	.	.	.	.	.	rs759928543,COSM4012943	11/11	PASS	ENST00000463117	Transcript	.	.	ENSG00000130649	2631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	CP2E1_HUMAN	CYP2E1	HGNC	Q4LBD0_HUMAN,F5H694_HUMAN	.	UPI0000128291	SNV	CYP2E1,missense_variant,p.Arg492Cys,ENST00000463117,;CYP2E1,missense_variant,p.Arg492Cys,ENST00000252945,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,downstream_gene_variant,,ENST00000418356,;CYP2E1,downstream_gene_variant,,ENST00000421586,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000469258,;CYP2E1,intron_variant,,ENST00000368520,;CYP2E1,downstream_gene_variant,,ENST00000541080,;	1746	72	48	SUCCESS
CEP164	22897	.	GRCh37	11	117251354	117251359	+	inframe_deletion	In_Frame_Del	DEL	GACAAG	GACAAG	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	GACAAG	GACAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	66	0	ENST00000278935.3:c.1344_1349del	p.Lys449_Asp450del	p.K449_D450del	ENST00000278935	NM_014956.4	448	GACAAG/-	0	.	.	.	.	.	-	DK/-	protein_coding	YES	CCDS31683.1	1342-1347	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAGAAGACAAGGATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8	.	.	ENSP00000278935	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000278935	Transcript	.	.	ENSG00000110274	29182	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE164_HUMAN	CEP164	HGNC	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN	.	UPI00001FA422	deletion	CEP164,inframe_deletion,p.Lys449_Asp450del,ENST00000278935,;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,upstream_gene_variant,,ENST00000529153,;CEP164,upstream_gene_variant,,ENST00000533223,;	1489-1494	66	49	SUCCESS
USP2	9099	.	GRCh37	11	119243744	119243744	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	79	0	ENST00000260187.2:c.447T>C	p.Asp149=	p.D149=	ENST00000260187	NM_004205.4	149	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS8422.1	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAATCCCG	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396	.	.	ENSP00000260187	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000260187	Transcript	.	.	ENSG00000036672	12618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP2_HUMAN	USP2	HGNC	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN	.	UPI00001379D8	SNV	USP2,synonymous_variant,p.%3D,ENST00000531070,;USP2,synonymous_variant,p.%3D,ENST00000260187,;USP2,intron_variant,,ENST00000455332,;USP2,downstream_gene_variant,,ENST00000527843,;RP11-334E6.3,non_coding_transcript_exon_variant,,ENST00000530918,;	742	79	65	SUCCESS
CD44	960	.	GRCh37	11	35208383	35208383	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	75	0	ENST00000428726.2:c.372A>T	p.Pro124=	p.P124=	ENST00000428726	NM_000610.3	124	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7897.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCACCTGA	NONE	.	.	hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6,Superfamily_domains:SSF56436,Prints_domain:PR00658	.	.	ENSP00000398632	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000428726	Transcript	.	.	ENSG00000026508	1681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD44_HUMAN	CD44	HGNC	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN	.	UPI000013D3FE	SNV	CD44,synonymous_variant,p.%3D,ENST00000449691,;CD44,synonymous_variant,p.%3D,ENST00000279452,;CD44,synonymous_variant,p.%3D,ENST00000525211,;CD44,synonymous_variant,p.%3D,ENST00000442151,;CD44,synonymous_variant,p.%3D,ENST00000437706,;CD44,synonymous_variant,p.%3D,ENST00000531873,;CD44,synonymous_variant,p.%3D,ENST00000526000,;CD44,synonymous_variant,p.%3D,ENST00000263398,;CD44,synonymous_variant,p.%3D,ENST00000528455,;CD44,synonymous_variant,p.%3D,ENST00000433892,;CD44,synonymous_variant,p.%3D,ENST00000352818,;CD44,synonymous_variant,p.%3D,ENST00000415148,;CD44,synonymous_variant,p.%3D,ENST00000360158,;CD44,synonymous_variant,p.%3D,ENST00000428726,;CD44,synonymous_variant,p.%3D,ENST00000434472,;CD44,synonymous_variant,p.%3D,ENST00000433354,;CD44,synonymous_variant,p.%3D,ENST00000527889,;CD44,intron_variant,,ENST00000278386,;CD44,intron_variant,,ENST00000526669,;CD44,upstream_gene_variant,,ENST00000531110,;CD44,upstream_gene_variant,,ENST00000524922,;CD44,upstream_gene_variant,,ENST00000525688,;CD44,upstream_gene_variant,,ENST00000525685,;CD44,upstream_gene_variant,,ENST00000278385,;CD44,upstream_gene_variant,,ENST00000533222,;CD44,non_coding_transcript_exon_variant,,ENST00000525209,;CD44,intron_variant,,ENST00000528086,;CD44,missense_variant,p.Thr80Ser,ENST00000425428,;CD44,non_coding_transcript_exon_variant,,ENST00000531118,;CD44,upstream_gene_variant,,ENST00000534296,;CD44,upstream_gene_variant,,ENST00000525241,;	495	75	70	SUCCESS
PTPMT1	114971	.	GRCh37	11	47591365	47591365	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	26	81	0	ENST00000326674.9:c.369del	p.Leu124TrpfsTer24	p.L124Wfs*24	ENST00000326674	NM_175732.2	123	tcG/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS41643.1	369	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGTCGCTGGG	NONE	.	.	PROSITE_profiles:PS50056,hmmpanther:PTHR10159:SF316,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000325958	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000326674	Transcript	.	.	ENSG00000110536	26965	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTPM1_HUMAN	PTPMT1	HGNC	.	.	UPI00000472C6	deletion	PTPMT1,frameshift_variant,p.Ala160LeufsTer79,ENST00000534775,;PTPMT1,frameshift_variant,p.Leu124TrpfsTer24,ENST00000326674,;PTPMT1,intron_variant,,ENST00000426530,;PTPMT1,intron_variant,,ENST00000326656,;KBTBD4,downstream_gene_variant,,ENST00000533290,;KBTBD4,downstream_gene_variant,,ENST00000430070,;CELF1,upstream_gene_variant,,ENST00000526419,;KBTBD4,downstream_gene_variant,,ENST00000526005,;KBTBD4,downstream_gene_variant,,ENST00000395288,;CELF1,upstream_gene_variant,,ENST00000525841,;CELF1,upstream_gene_variant,,ENST00000530151,;PTPMT1,non_coding_transcript_exon_variant,,ENST00000527079,;NDUFS3,intron_variant,,ENST00000533507,;	391	81	111	SUCCESS
HBD	3045	.	GRCh37	11	5254217	5254217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	16	88	0	ENST00000380299.3:c.421G>T	p.Ala141Ser	p.A141S	ENST00000380299	NM_000519.3	141	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31376.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCATTAG	NONE	.	.	Prints_domain:PR00814,Superfamily_domains:SSF46458,Gene3D:1.10.490.10,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF30,PROSITE_profiles:PS01033	.	.	ENSP00000369654	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380299	Transcript	.	.	ENSG00000223609	4829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	tolerated(0.07)	.	HBD_HUMAN	HBD	HGNC	A0N071_HUMAN,Q5XTR9_HUMAN,E9PEW8_HUMAN,D1MGQ0_HUMAN,D1MGP8_HUMAN	.	UPI0000161DC2	SNV	HBD,missense_variant,p.Ala141Ser,ENST00000380299,;HBD,missense_variant,p.Met66Ile,ENST00000417377,;HBD,intron_variant,,ENST00000292901,;HBD,downstream_gene_variant,,ENST00000429817,;HBB,upstream_gene_variant,,ENST00000380315,;	636	88	80	SUCCESS
GLYATL1	92292	.	GRCh37	11	58723497	58723497	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	71	0	ENST00000317391.4:c.906T>G	p.Phe302Leu	p.F302L	ENST00000317391	NM_001220494.1	302	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS31556.1	999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTTTAGAC	NONE	.	.	hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF7	.	.	ENSP00000300079	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000300079	Transcript	.	.	ENSG00000166840	30519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.47)	.	GLYL1_HUMAN	GLYATL1	HGNC	E9PP99_HUMAN,E9PNJ8_HUMAN,E9PK55_HUMAN	.	UPI000006ED98	SNV	GLYATL1,missense_variant,p.Phe302Leu,ENST00000317391,;GLYATL1,missense_variant,p.Phe333Leu,ENST00000300079,;GLYATL1,downstream_gene_variant,,ENST00000532726,;GLYATL1,downstream_gene_variant,,ENST00000526351,;GLYATL1,downstream_gene_variant,,ENST00000525608,;RP11-142C4.6,intron_variant,,ENST00000533954,;RP11-142C4.6,downstream_gene_variant,,ENST00000525714,;GLYATL1,intron_variant,,ENST00000534063,;GLYATL1,downstream_gene_variant,,ENST00000533864,;GLYATL1,downstream_gene_variant,,ENST00000524403,;GLYATL1,3_prime_UTR_variant,,ENST00000527708,;GLYATL1,3_prime_UTR_variant,,ENST00000530240,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000534119,;GLYATL1,downstream_gene_variant,,ENST00000524881,;GLYATL1,downstream_gene_variant,,ENST00000530774,;	1049	71	75	SUCCESS
MS4A7	58475	.	GRCh37	11	60157018	60157018	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	57	0	ENST00000300184.3:c.495T>C	p.Tyr165=	p.Y165=	ENST00000300184	NM_206939.1	165	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS7985.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTATTATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23320:SF8,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	.	ENSP00000300184	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000300184	Transcript	.	.	ENSG00000166927	13378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MS4A7_HUMAN	MS4A7	HGNC	.	.	UPI0000043671	SNV	MS4A7,synonymous_variant,p.%3D,ENST00000358246,;MS4A7,synonymous_variant,p.%3D,ENST00000300184,;MS4A7,synonymous_variant,p.%3D,ENST00000530614,;MS4A7,synonymous_variant,p.%3D,ENST00000534016,;MS4A7,synonymous_variant,p.%3D,ENST00000530027,;MS4A7,intron_variant,,ENST00000530234,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,downstream_gene_variant,,ENST00000528215,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528587,;MS4A7,non_coding_transcript_exon_variant,,ENST00000534310,;MS4A7,non_coding_transcript_exon_variant,,ENST00000533849,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528808,;MS4A6E,intron_variant,,ENST00000532756,;	691	57	55	SUCCESS
CORO1B	57175	.	GRCh37	11	67209158	67209158	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	30	0	ENST00000341356.5:c.454+46T>A		p.*152*	ENST00000341356	NM_020441.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8164.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGAGGGGT	NONE	.	.	.	.	.	ENSP00000377471	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393893	Transcript	.	.	ENSG00000172725	2253	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COR1B_HUMAN	CORO1B	HGNC	.	.	UPI0000127C42	SNV	CORO1B,missense_variant,p.Leu167His,ENST00000545016,;CORO1B,intron_variant,,ENST00000341356,;CORO1B,intron_variant,,ENST00000453768,;CORO1B,intron_variant,,ENST00000393893,;PTPRCAP,upstream_gene_variant,,ENST00000326294,;CORO1B,upstream_gene_variant,,ENST00000539970,;CORO1B,downstream_gene_variant,,ENST00000537010,;CORO1B,downstream_gene_variant,,ENST00000545736,;CORO1B,upstream_gene_variant,,ENST00000539724,;CORO1B,intron_variant,,ENST00000537042,;	.	30	22	SUCCESS
GRM5	2915	.	GRCh37	11	88781134	88781134	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	11	20	0	ENST00000305447.4:c.-94A>G		p.*32*	ENST00000305447	NM_001143831.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44694.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGTCGCAA	NONE	.	.	.	.	.	ENSP00000402912	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,5_prime_UTR_variant,,ENST00000305447,;GRM5,5_prime_UTR_variant,,ENST00000305432,;GRM5,5_prime_UTR_variant,,ENST00000418177,;GRM5,5_prime_UTR_variant,,ENST00000455756,;GRM5,5_prime_UTR_variant,,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;GRM5,upstream_gene_variant,,ENST00000393297,;	275	20	18	SUCCESS
AMOTL1	154810	.	GRCh37	11	94603926	94603926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	44	0	ENST00000433060.2:c.2837T>C	p.Phe946Ser	p.F946S	ENST00000433060	NM_130847.2	946	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS44712.1	2837	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTTCCCTG	NONE	.	.	hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12	.	.	ENSP00000387739	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000433060	Transcript	.	.	ENSG00000166025	17811	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.386)	.	deleterious_low_confidence(0.01)	.	AMOL1_HUMAN	AMOTL1	HGNC	.	.	UPI00000742C2	SNV	AMOTL1,missense_variant,p.Phe533Ser,ENST00000317837,;AMOTL1,missense_variant,p.Phe896Ser,ENST00000317829,;AMOTL1,missense_variant,p.Phe946Ser,ENST00000433060,;RP11-856F16.2,downstream_gene_variant,,ENST00000545958,;AMOTL1,downstream_gene_variant,,ENST00000537191,;	2978	44	38	SUCCESS
CLEC9A	283420	.	GRCh37	12	10205329	10205329	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	95	0	ENST00000355819.1:c.43C>G	p.Pro15Ala	p.P15A	ENST00000355819	NM_207345.2	15	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS8611.1	43	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCCCAGCA	NONE	.	.	hmmpanther:PTHR22800:SF11,hmmpanther:PTHR22800,Gene3D:3.10.100.10	.	.	ENSP00000348074	.	4/9	.	.	.	.	.	.	.	.	COSM3967919	4/9	PASS	ENST00000355819	Transcript	.	.	ENSG00000197992	26705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.749)	.	deleterious(0.01)	1	CLC9A_HUMAN	CLEC9A	HGNC	.	.	UPI00001D696C	SNV	CLEC9A,missense_variant,p.Pro15Ala,ENST00000355819,;CLEC9A,non_coding_transcript_exon_variant,,ENST00000544751,;	656	95	51	SUCCESS
CIT	11113	.	GRCh37	12	120220408	120220408	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	60	0	ENST00000261833.7:c.1579G>A	p.Glu527Lys	p.E527K	ENST00000261833	NM_007174.2	527	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS55891.1	1579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCCATCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26	.	.	ENSP00000376306	.	13/48	.	.	.	.	.	.	.	.	.	13/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	deleterious(0.01)	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Glu155Lys,ENST00000392520,;CIT,missense_variant,p.Glu527Lys,ENST00000261833,;CIT,missense_variant,p.Glu527Lys,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,downstream_gene_variant,,ENST00000539413,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000488203,;	1635	60	46	SUCCESS
KIAA1551	0	.	GRCh37	12	32136720	32136720	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773421238	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	75	0	ENST00000312561.4:c.2831A>G	p.Asp944Gly	p.D944G	ENST00000312561	NM_018169.3	944	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS8725.2	2831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGATAATA	NONE	byFrequency	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	rs773421238	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	tolerated(0.11)	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,missense_variant,p.Asp944Gly,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	3245	75	40	SUCCESS
PDZRN4	29951	.	GRCh37	12	41900359	41900359	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	35	82	0	ENST00000402685.2:c.945T>C	p.Pro315=	p.P315=	ENST00000402685	NM_001164595.1	315	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS53777.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTCTTAG	NONE	.	.	Superfamily_domains:SSF50156,Gene3D:2.30.42.10,hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545	.	.	ENSP00000384197	.	4/10	.	.	.	.	.	.	.	.	COSM4041710,COSM4041711,COSM4041709	4/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,synonymous_variant,p.%3D,ENST00000298919,;PDZRN4,synonymous_variant,p.%3D,ENST00000539469,;PDZRN4,synonymous_variant,p.%3D,ENST00000402685,;PDZRN4,upstream_gene_variant,,ENST00000548316,;	953	82	55	SUCCESS
LRP1	4035	.	GRCh37	12	57594875	57594875	+	synonymous_variant	Silent	SNP	C	C	T	rs551393670	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	51	0	ENST00000243077.3:c.10284C>T	p.Pro3428=	p.P3428=	ENST00000243077	NM_002332.2	3428	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8932.1	10284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCCGGCAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	65/89	.	.	.	.	.	.	.	.	rs551393670	65/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,synonymous_variant,p.%3D,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000555124,;LRP1,non_coding_transcript_exon_variant,,ENST00000555941,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000556356,;LRP1,upstream_gene_variant,,ENST00000451724,;	10750	51	56	SUCCESS
VWF	7450	.	GRCh37	12	6182863	6182863	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	28	0	ENST00000261405.5:c.919C>T	p.Pro307Ser	p.P307S	ENST00000261405	NM_000552.3	307	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS8539.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGGGACA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Gene3D:2.10.25.10,Pfam_domain:PF01826,PIRSF_domain:PIRSF002495,Superfamily_domains:SSF57567	.	.	ENSP00000261405	.	8/52	.	.	.	.	.	.	.	.	COSM694867	8/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.991)	.	tolerated(0.19)	1	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,missense_variant,p.Pro307Ser,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;	1174	28	35	SUCCESS
TMTC4	84899	.	GRCh37	13	101289831	101289831	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	82	0	ENST00000376234.3:c.903G>T	p.Val301=	p.V301=	ENST00000376234	NM_001079669.1	301	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9497.2	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCCACCTC	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF374,Pfam_domain:PF08409	.	.	ENSP00000343871	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000342624	Transcript	.	.	ENSG00000125247	25904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMTC4_HUMAN	TMTC4	HGNC	C9K0R2_HUMAN	.	UPI000004B63E	SNV	TMTC4,synonymous_variant,p.%3D,ENST00000376234,;TMTC4,synonymous_variant,p.%3D,ENST00000328767,;TMTC4,synonymous_variant,p.%3D,ENST00000342624,;TMTC4,non_coding_transcript_exon_variant,,ENST00000462211,;TMTC4,upstream_gene_variant,,ENST00000496511,;TMTC4,upstream_gene_variant,,ENST00000478272,;TMTC4,non_coding_transcript_exon_variant,,ENST00000489713,;	1219	82	59	SUCCESS
CCDC169	728591	.	GRCh37	13	36827982	36827982	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	110	0	ENST00000239859.7:c.426G>T	p.Lys142Asn	p.K142N	ENST00000239859		142	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS55897.1	426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCTTCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15372	.	.	ENSP00000426174	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000503173	Transcript	.	.	ENSG00000242715	34361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	deleterious(0)	.	CC169_HUMAN	CCDC169	HGNC	.	.	UPI0000227E78	SNV	CCDC169,missense_variant,p.Lys40Asn,ENST00000379864,;CCDC169,missense_variant,p.Lys40Asn,ENST00000491049,;CCDC169,missense_variant,p.Lys142Asn,ENST00000239859,;CCDC169,missense_variant,p.Lys40Asn,ENST00000510088,;CCDC169,missense_variant,p.Lys42Asn,ENST00000239860,;CCDC169,missense_variant,p.Lys40Asn,ENST00000379862,;CCDC169-SOHLH2,missense_variant,p.Lys42Asn,ENST00000511166,;CCDC169,missense_variant,p.Lys142Asn,ENST00000503173,;SOHLH2,missense_variant,p.Lys42Asn,ENST00000554962,;CCDC169,non_coding_transcript_exon_variant,,ENST00000486683,;CCDC169,non_coding_transcript_exon_variant,,ENST00000479850,;CCDC169,intron_variant,,ENST00000471781,;CCDC169,missense_variant,p.Lys40Asn,ENST00000506800,;	456	110	51	SUCCESS
PRPF39	55015	.	GRCh37	14	45571737	45571737	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	22	72	0	ENST00000355765.6:c.575T>G	p.Phe192Cys	p.F192C	ENST00000355765	NM_017922.3	192	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS9682.2	575	RADIA|MUTECT|MUSE	.	AACTTTTGAGC	NONE	.	.	hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000348010	.	5/14	.	.	.	.	.	.	.	.	COSM3496060,COSM3496059	5/14	PASS	ENST00000355765	Transcript	.	.	ENSG00000185246	20314	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.967)	.	deleterious(0)	1,1	PRP39_HUMAN	PRPF39	HGNC	.	.	UPI00015BB2D5	SNV	PRPF39,missense_variant,p.Phe192Cys,ENST00000355765,;PRPF39,missense_variant,p.Phe36Cys,ENST00000557477,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;	745	72	41	SUCCESS
PRPF39	55015	.	GRCh37	14	45571769	45571769	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	100	0	ENST00000355765.6:c.607T>G	p.Phe203Val	p.F203V	ENST00000355765	NM_017922.3	203	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS9682.2	607	RADIA|MUTECT|MUSE	.	CAGATTTCCGT	NONE	.	.	hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000348010	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000355765	Transcript	.	.	ENSG00000185246	20314	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.677)	.	deleterious(0)	.	PRP39_HUMAN	PRPF39	HGNC	.	.	UPI00015BB2D5	SNV	PRPF39,missense_variant,p.Phe203Val,ENST00000355765,;PRPF39,missense_variant,p.Phe47Val,ENST00000557477,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;	777	100	54	SUCCESS
NPAP1	23742	.	GRCh37	15	24922750	24922750	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758609267	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	93	0	ENST00000329468.2:c.1736A>T	p.Asp579Val	p.D579V	ENST00000329468	NM_018958.2	579	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS10015.1	1736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGATACTA	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	rs758609267	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Asp579Val,ENST00000329468,;	2210	93	80	SUCCESS
TRPM1	4308	.	GRCh37	15	31330001	31330001	+	synonymous_variant	Silent	SNP	G	G	A	rs1304029600	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	67	1	ENST00000397795.2:c.2418C>T	p.Asn806=	p.N806=	ENST00000397795	NM_002420.5	806	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS58347.1	2535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGTTCTC	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,synonymous_variant,p.%3D,ENST00000558445,;TRPM1,synonymous_variant,p.%3D,ENST00000542188,;TRPM1,synonymous_variant,p.%3D,ENST00000558768,;TRPM1,synonymous_variant,p.%3D,ENST00000256552,;TRPM1,synonymous_variant,p.%3D,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;RP11-348B17.1,downstream_gene_variant,,ENST00000558755,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,upstream_gene_variant,,ENST00000557948,;	2849	68	63	SUCCESS
DUOX2	50506	.	GRCh37	15	45388244	45388244	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	82	0	ENST00000603300.1:c.3862C>A	p.Gln1288Lys	p.Q1288K	ENST00000603300	NM_014080.4	1288	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS10117.1	3862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTGCAGGT	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Gene3D:2.40.30.10,Pfam_domain:PF08022,Superfamily_domains:SSF63380	.	.	ENSP00000475084	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.38)	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.Gln1288Lys,ENST00000389039,;DUOX2,missense_variant,p.Gln1288Lys,ENST00000603300,;DUOX2,downstream_gene_variant,,ENST00000558383,;DUOX2,downstream_gene_variant,,ENST00000560797,;DUOX2,downstream_gene_variant,,ENST00000558416,;	4065	82	66	SUCCESS
DIS3L	115752	.	GRCh37	15	66599227	66599227	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	45	0	ENST00000319212.4:c.359A>G	p.Glu120Gly	p.E120G	ENST00000319212	NM_001143688.1	120	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS45286.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGAATTCC	NONE	.	.	hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30	.	.	ENSP00000321711	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000319212	Transcript	.	.	ENSG00000166938	28698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	DI3L1_HUMAN	DIS3L	HGNC	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN	.	UPI000162779D	SNV	DIS3L,missense_variant,p.Glu37Gly,ENST00000530615,;DIS3L,missense_variant,p.Glu37Gly,ENST00000319194,;DIS3L,missense_variant,p.Glu37Gly,ENST00000525134,;DIS3L,missense_variant,p.Glu37Gly,ENST00000532580,;DIS3L,missense_variant,p.Glu120Gly,ENST00000319212,;DIS3L,splice_region_variant,,ENST00000441424,;DIS3L,5_prime_UTR_variant,,ENST00000525109,;DIS3L,splice_region_variant,,ENST00000530537,;DIS3L,splice_region_variant,,ENST00000524795,;DIS3L,non_coding_transcript_exon_variant,,ENST00000562314,;DIS3L,non_coding_transcript_exon_variant,,ENST00000565281,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564909,;	409	45	53	SUCCESS
ISLR2	57611	.	GRCh37	15	74426696	74426696	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	28	35	0	ENST00000361742.3:c.1601C>T	p.Pro534Leu	p.P534L	ENST00000361742	NM_001130136.1	534	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS10259.1	1601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCCAGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366	.	.	ENSP00000355402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361742	Transcript	.	.	ENSG00000167178	29286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.35)	.	ISLR2_HUMAN	ISLR2	HGNC	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN	.	UPI000004C60F	SNV	ISLR2,missense_variant,p.Pro534Leu,ENST00000565540,;ISLR2,missense_variant,p.Pro534Leu,ENST00000445793,;ISLR2,missense_variant,p.Pro534Leu,ENST00000453268,;ISLR2,missense_variant,p.Pro534Leu,ENST00000361742,;ISLR2,missense_variant,p.Pro534Leu,ENST00000419208,;ISLR2,missense_variant,p.Pro534Leu,ENST00000435464,;ISLR2,missense_variant,p.Pro534Leu,ENST00000565159,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	2370	35	41	SUCCESS
ZNF592	9640	.	GRCh37	15	85327987	85327987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	70	0	ENST00000299927.3:c.2081C>T	p.Pro694Leu	p.P694L	ENST00000299927		694	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32317.1	2081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCTCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199	.	.	ENSP00000299927	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000299927	Transcript	1	.	ENSG00000166716	28986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.84)	.	ZN592_HUMAN	ZNF592	HGNC	.	.	UPI000013E5FC	SNV	ZNF592,missense_variant,p.Pro694Leu,ENST00000299927,;ZNF592,missense_variant,p.Pro694Leu,ENST00000560079,;ZNF592,missense_variant,p.Pro694Leu,ENST00000559607,;	2103	70	57	SUCCESS
ARRDC4	91947	.	GRCh37	15	98512602	98512602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	41	92	0	ENST00000268042.6:c.875C>A	p.Ser292Tyr	p.S292Y	ENST00000268042	NM_183376.2	292	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS10377.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTCCTTAG	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM01017,Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF16	.	.	ENSP00000268042	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000268042	Transcript	.	.	ENSG00000140450	28087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.02)	.	ARRD4_HUMAN	ARRDC4	HGNC	.	.	UPI00001C1F90	SNV	ARRDC4,missense_variant,p.Ser292Tyr,ENST00000268042,;ARRDC4,missense_variant,p.Ser205Tyr,ENST00000538249,;	1039	92	79	SUCCESS
ZNF778	197320	.	GRCh37	16	89293317	89293317	+	synonymous_variant	Silent	SNP	C	C	T	rs755522644	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	47	119	1	ENST00000433976.2:c.537C>T	p.Phe179=	p.F179=	ENST00000433976	NM_001201407.1	179	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS45550.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCAGCTC	NONE	.	.	hmmpanther:PTHR24381:SF116,hmmpanther:PTHR24381	.	.	ENSP00000405289	.	6/6	.	.	.	.	.	.	.	.	rs755522644	6/6	PASS	ENST00000433976	Transcript	.	.	ENSG00000170100	26479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN778_HUMAN	ZNF778	HGNC	H3BUU4_HUMAN	.	UPI00001B6521	SNV	ZNF778,synonymous_variant,p.%3D,ENST00000433976,;ZNF778,synonymous_variant,p.%3D,ENST00000306502,;ZNF778,downstream_gene_variant,,ENST00000564906,;RP11-46C24.6,non_coding_transcript_exon_variant,,ENST00000563182,;ZNF778,3_prime_UTR_variant,,ENST00000567651,;ZNF778,downstream_gene_variant,,ENST00000565414,;	869	120	66	SUCCESS
FAM83G	644815	.	GRCh37	17	18881565	18881565	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	22	0	ENST00000345041.4:c.1414C>A	p.Pro472Thr	p.P472T	ENST00000345041		472	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS42276.1	1414	RADIA|MUTECT|MUSE	.	CTCTGGACGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16181:SF5,hmmpanther:PTHR16181	.	.	ENSP00000373647	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000388995	Transcript	.	.	ENSG00000188522	32554	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.037)	.	tolerated(0.64)	.	FA83G_HUMAN	FAM83G	HGNC	.	.	UPI0000E03260	SNV	FAM83G,missense_variant,p.Pro472Thr,ENST00000585154,;FAM83G,missense_variant,p.Pro472Thr,ENST00000388995,;FAM83G,missense_variant,p.Pro472Thr,ENST00000345041,;SLC5A10,intron_variant,,ENST00000417251,;SLC5A10,intron_variant,,ENST00000395647,;SLC5A10,intron_variant,,ENST00000395643,;SLC5A10,intron_variant,,ENST00000395642,;SLC5A10,intron_variant,,ENST00000395645,;SLC5A10,intron_variant,,ENST00000317977,;FAM83G,upstream_gene_variant,,ENST00000580115,;FAM83G,non_coding_transcript_exon_variant,,ENST00000399096,;	1638	22	10	SUCCESS
RARA	5914	.	GRCh37	17	38508601	38508601	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	55	0	ENST00000254066.5:c.649C>A	p.Arg217Ser	p.R217S	ENST00000254066	NM_000964.3	217	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11366.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAACGTGTC	NONE	.	.	hmmpanther:PTHR24082:SF115,hmmpanther:PTHR24082,Gene3D:1.10.565.10,Superfamily_domains:SSF48508,Prints_domain:PR01292	.	.	ENSP00000254066	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000254066	Transcript	.	.	ENSG00000131759	9864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	tolerated(0.18)	.	RARA_HUMAN	RARA	HGNC	Q6I9R7_HUMAN,J3QRM2_HUMAN,J3KSJ4_HUMAN	.	UPI0000134A0E	SNV	RARA,missense_variant,p.Arg98Ser,ENST00000475125,;RARA,missense_variant,p.Arg212Ser,ENST00000394081,;RARA,missense_variant,p.Arg120Ser,ENST00000425707,;RARA,missense_variant,p.Arg217Ser,ENST00000254066,;RARA,missense_variant,p.Arg217Ser,ENST00000394089,;RARA,missense_variant,p.Arg233Ser,ENST00000394086,;RARA,downstream_gene_variant,,ENST00000577646,;RARA,non_coding_transcript_exon_variant,,ENST00000420042,;RARA,downstream_gene_variant,,ENST00000579727,;	1104	55	46	SUCCESS
KRT13	3860	.	GRCh37	17	39659035	39659035	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	50	0	ENST00000246635.3:c.927C>A	p.Thr309=	p.T309=	ENST00000246635	NM_153490.2	309	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11396.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTGGTAGA	NONE	.	.	hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000246635	.	5/8	.	.	.	.	.	.	.	.	COSM417533	5/8	PASS	ENST00000246635	Transcript	.	.	ENSG00000171401	6415	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	K1C13_HUMAN	KRT13	HGNC	K7ERE3_HUMAN,K7EMD9_HUMAN	.	UPI000013CBF6	SNV	KRT13,synonymous_variant,p.%3D,ENST00000246635,;KRT13,synonymous_variant,p.%3D,ENST00000587544,;KRT13,synonymous_variant,p.%3D,ENST00000336861,;KRT13,downstream_gene_variant,,ENST00000590425,;KRT13,downstream_gene_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	974	50	63	SUCCESS
KRT13	3860	.	GRCh37	17	39659036	39659036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	50	0	ENST00000246635.3:c.926C>A	p.Thr309Asn	p.T309N	ENST00000246635	NM_153490.2	309	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS11396.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGTAGAC	NONE	.	.	hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000246635	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000246635	Transcript	.	.	ENSG00000171401	6415	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	tolerated(0.06)	.	K1C13_HUMAN	KRT13	HGNC	K7ERE3_HUMAN,K7EMD9_HUMAN	.	UPI000013CBF6	SNV	KRT13,missense_variant,p.Thr309Asn,ENST00000246635,;KRT13,missense_variant,p.Thr309Asn,ENST00000587544,;KRT13,missense_variant,p.Thr309Asn,ENST00000336861,;KRT13,downstream_gene_variant,,ENST00000590425,;KRT13,downstream_gene_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	973	50	63	SUCCESS
SOX9	6662	.	GRCh37	17	70117638	70117638	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1433090383	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	104	230	0	ENST00000245479.2:c.106C>T	p.Pro36Ser	p.P36S	ENST00000245479	NM_000346.3	36	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11689.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCCGTCG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12444,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212	.	.	ENSP00000245479	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000245479	Transcript	.	.	ENSG00000125398	11204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	tolerated(0.16)	.	SOX9_HUMAN	SOX9	HGNC	.	.	UPI00000009D8	SNV	SOX9,missense_variant,p.Pro36Ser,ENST00000245479,;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	478	230	257	SUCCESS
TP53	7157	.	GRCh37	17	7578275	7578275	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs866380588	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	60	145	0	ENST00000269305.4:c.574C>T	p.Gln192Ter	p.Q192*	ENST00000269305	NM_001126112.2	192	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11118.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGAGGAG	SITE|p.Q192*|c.574C>T|6,SITE|p.Q99*|c.295C>T|17,SITE|p.Q192*|c.574C>T|10,SITE|p.Q192*|c.574C>T|17,SITE|p.Q192*|c.574C>T|86,SITE|p.Q192*|c.574C>T|17,SITE|p.Q60*|c.178C>T|17,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.Q192H|c.576G>T|3,CODON|p.Q192Q|c.576G>A|3,CODON|p.Q192R|c.575A>G|5,CODON|p.P191delP|c.572_574delCTC|3,CODON|p.P191delP|c.572_574delCTC|3,CODON|p.P191delP|c.572_574delCTC|5,CODON|p.P59delP|c.176_178delCTC|3,CODON|p.P98delP|c.293_295delCTC|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8,BUFFER|p.A189V|c.566C>T|4,BUFFER|p.A189T|c.565G>A|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12643C>A,TP53_g.12643C>T,COSM10733,COSM44111,COSM117949,COSM117946,COSM117947,COSM3370929,COSM1649390,COSM117948	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Gln192Ter,ENST00000413465,;TP53,stop_gained,p.Gln192Ter,ENST00000420246,;TP53,stop_gained,p.Gln192Ter,ENST00000269305,;TP53,stop_gained,p.Gln60Ter,ENST00000509690,;TP53,stop_gained,p.Gln192Ter,ENST00000359597,;TP53,stop_gained,p.Gln99Ter,ENST00000514944,;TP53,stop_gained,p.Gln192Ter,ENST00000445888,;TP53,stop_gained,p.Gln192Ter,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	764	145	81	SUCCESS
CBX4	8535	.	GRCh37	17	77808306	77808306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	40	0	ENST00000269397.4:c.1135C>T	p.Pro379Ser	p.P379S	ENST00000269397	NM_003655.2	379	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32758.1	1135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGGTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22812:SF10,hmmpanther:PTHR22812	.	.	ENSP00000269397	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269397	Transcript	.	.	ENSG00000141582	1554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(1)	.	CBX4_HUMAN	CBX4	HGNC	.	.	UPI000013D82E	SNV	CBX4,missense_variant,p.Pro379Ser,ENST00000269397,;CBX4,downstream_gene_variant,,ENST00000495122,;CBX4,downstream_gene_variant,,ENST00000448310,;CBX4,downstream_gene_variant,,ENST00000494546,;	1313	40	46	SUCCESS
CHMP6	79643	.	GRCh37	17	78965664	78965664	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	62	0	ENST00000325167.5:c.-55G>C		p.*19*	ENST00000325167	NM_024591.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11774.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGGGGCG	NONE	.	.	.	.	.	ENSP00000317468	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325167	Transcript	.	.	ENSG00000176108	25675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHMP6_HUMAN	CHMP6	HGNC	I3L3E4_HUMAN	.	UPI000003E7D8	SNV	CHMP6,5_prime_UTR_variant,,ENST00000325167,;CHMP6,intron_variant,,ENST00000572525,;CHMP6,upstream_gene_variant,,ENST00000572778,;CHMP6,upstream_gene_variant,,ENST00000571457,;	24	62	67	SUCCESS
SALL3	27164	.	GRCh37	18	76755362	76755362	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs867553343	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	22	0	ENST00000537592.2:c.3371C>A	p.Ser1124Ter	p.S1124*	ENST00000537592	NM_171999.3	1124	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS12013.1	3371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGGCCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	COSM1224608	2/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,stop_gained,p.Ser117Ter,ENST00000573324,;SALL3,stop_gained,p.Ser919Ter,ENST00000536229,;SALL3,stop_gained,p.Ser1124Ter,ENST00000537592,;SALL3,stop_gained,p.Ser1052Ter,ENST00000575389,;SALL3,downstream_gene_variant,,ENST00000572928,;	3371	22	25	SUCCESS
SLC35E1	79939	.	GRCh37	19	16682902	16682902	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1408212762	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	40	129	0	ENST00000595753.1:c.274G>T	p.Gly92Ter	p.G92*	ENST00000595753	NM_024881.4	92	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS12346.2	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCGGGGC	NONE	.	.	Pfam_domain:PF00892,hmmpanther:PTHR11132:SF31,hmmpanther:PTHR11132,Low_complexity_(Seg):seg	.	.	ENSP00000470652	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000595753	Transcript	.	.	ENSG00000127526	20803	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35E1_HUMAN	SLC35E1	HGNC	.	.	UPI000004D338	SNV	SLC35E1,stop_gained,p.Gly72Ter,ENST00000436553,;SLC35E1,stop_gained,p.Gly92Ter,ENST00000595753,;SLC35E1,5_prime_UTR_variant,,ENST00000431408,;MED26,downstream_gene_variant,,ENST00000263390,;SLC35E1,non_coding_transcript_exon_variant,,ENST00000488894,;CTD-3222D19.2,intron_variant,,ENST00000409035,;SLC35E1,upstream_gene_variant,,ENST00000409648,;MED26,downstream_gene_variant,,ENST00000597244,;	292	129	56	SUCCESS
ZNF208	7757	.	GRCh37	19	22154761	22154761	+	synonymous_variant	Silent	SNP	T	T	C	rs746910347	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	231	38	130	0	ENST00000397126.4:c.3075A>G	p.Gly1025=	p.G1025=	ENST00000397126	NM_007153.3	1025	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS54240.1	3075	RADIA|MUTECT|MUSE	.	GTCTCTCCAGT	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	rs746910347	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,synonymous_variant,p.%3D,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	3224	130	270	SUCCESS
SIX5	147912	.	GRCh37	19	46268971	46268971	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	73	51	0	ENST00000317578.6:c.2008G>T	p.Glu670Ter	p.E670*	ENST00000317578	NM_175875.4	670	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12673.1	2008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTCCAGCC	NONE	.	.	hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390	.	.	ENSP00000316842	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000317578	Transcript	1	.	ENSG00000177045	10891	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX5_HUMAN	SIX5	HGNC	.	.	UPI0000366E2B	SNV	SIX5,stop_gained,p.Glu670Ter,ENST00000317578,;SIX5,3_prime_UTR_variant,,ENST00000560160,;SIX5,3_prime_UTR_variant,,ENST00000560168,;DMPK,downstream_gene_variant,,ENST00000593574,;DMPK,downstream_gene_variant,,ENST00000291270,;DMPK,downstream_gene_variant,,ENST00000458663,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000447742,;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000354227,;DMPK,downstream_gene_variant,,ENST00000343373,;AC074212.5,non_coding_transcript_exon_variant,,ENST00000559756,;AC074212.6,upstream_gene_variant,,ENST00000590076,;AC074212.5,upstream_gene_variant,,ENST00000592217,;DMPK,downstream_gene_variant,,ENST00000588522,;DMPK,downstream_gene_variant,,ENST00000598272,;DMPK,downstream_gene_variant,,ENST00000596686,;	2390	51	103	SUCCESS
SIX5	147912	.	GRCh37	19	46268972	46268972	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	72	51	0	ENST00000317578.6:c.2007G>T	p.Leu669=	p.L669=	ENST00000317578	NM_175875.4	669	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12673.1	2007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCAGCCC	NONE	.	.	hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390	.	.	ENSP00000316842	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000317578	Transcript	1	.	ENSG00000177045	10891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX5_HUMAN	SIX5	HGNC	.	.	UPI0000366E2B	SNV	SIX5,synonymous_variant,p.%3D,ENST00000317578,;SIX5,3_prime_UTR_variant,,ENST00000560160,;SIX5,3_prime_UTR_variant,,ENST00000560168,;DMPK,downstream_gene_variant,,ENST00000593574,;DMPK,downstream_gene_variant,,ENST00000291270,;DMPK,downstream_gene_variant,,ENST00000458663,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000447742,;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000354227,;DMPK,downstream_gene_variant,,ENST00000343373,;AC074212.5,non_coding_transcript_exon_variant,,ENST00000559756,;AC074212.6,upstream_gene_variant,,ENST00000590076,;AC074212.5,upstream_gene_variant,,ENST00000592217,;DMPK,downstream_gene_variant,,ENST00000588522,;DMPK,downstream_gene_variant,,ENST00000598272,;DMPK,downstream_gene_variant,,ENST00000596686,;	2389	51	102	SUCCESS
MYH14	79784	.	GRCh37	19	50779462	50779462	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	15	68	0	ENST00000376970.2:c.3656+2T>A		p.X1219_splice	ENST00000376970	NM_024729.3	1219		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54295.1	.	MUTECT|MUSE	.	TCCGGTGAGGC	NONE	.	.	.	.	.	ENSP00000470298	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	HIGH	28/42	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,splice_donor_variant,,ENST00000440075,;MYH14,splice_donor_variant,,ENST00000601313,;MYH14,splice_donor_variant,,ENST00000376970,;MYH14,splice_donor_variant,,ENST00000596571,;MYH14,splice_donor_variant,,ENST00000425460,;MYH14,splice_donor_variant,,ENST00000598205,;MYH14,splice_donor_variant,,ENST00000262269,;MYH14,downstream_gene_variant,,ENST00000599920,;	.	68	164	SUCCESS
KIR2DL1	3802	.	GRCh37	19	55284986	55284986	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs687485	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	30	80	1	ENST00000336077.6:c.272C>T	p.Thr91Met	p.T91M	ENST00000336077	NM_014218.2	91	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12904.1	272	MUTECT|MUSE|VARSCANS	.	CATGACGCAAG	BUFFER|p.R89H|c.266G>A|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000336769	.	3/8	.	.	.	.	.	.	.	.	COSM3404605	3/8	PASS	ENST00000336077	Transcript	.	.	ENSG00000125498	6329	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.024)	.	tolerated(0.07)	1	KI2L1_HUMAN	KIR2DL1	HGNC	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN	.	UPI00001195F7	SNV	KIR2DL1,missense_variant,p.Thr91Met,ENST00000336077,;KIR2DL1,missense_variant,p.Thr91Met,ENST00000291633,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	312	81	150	SUCCESS
ZNF317	57693	.	GRCh37	19	9271261	9271281	+	inframe_deletion	In_Frame_Del	DEL	GCTTACGGCCGGAGCTGCCAC	GCTTACGGCCGGAGCTGCCAC	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	GCTTACGGCCGGAGCTGCCAC	GCTTACGGCCGGAGCTGCCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	7	30	64	0	ENST00000247956.6:c.940_960del	p.Ala314_His320del	p.A314_H320del	ENST00000247956	NM_020933.4	314	GCTTACGGCCGGAGCTGCCAC/-	0	.	.	.	.	.	-	AYGRSCH/-	protein_coding	YES	CCDS12210.1	940-960	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAAGGCTTACGGCCGGAGCTGCCACCTCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF22,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000247956	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000247956	Transcript	.	.	ENSG00000130803	13507	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN317_HUMAN	ZNF317	HGNC	.	.	UPI0000366D00	deletion	ZNF317,inframe_deletion,p.Ala282_His288del,ENST00000360385,;ZNF317,inframe_deletion,p.Ala314_His320del,ENST00000247956,;ZNF317,intron_variant,,ENST00000591508,;ZNF317,3_prime_UTR_variant,,ENST00000591278,;ZNF317,non_coding_transcript_exon_variant,,ENST00000590152,;ZNF317,downstream_gene_variant,,ENST00000419608,;	1245-1265	64	37	SUCCESS
CLK2	1196	.	GRCh37	1	155238148	155238148	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	111	0	ENST00000368361.4:c.490G>T	p.Glu164Ter	p.E164*	ENST00000368361		164	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1107.1	487	RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCATCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF26,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000354856	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000361168	Transcript	.	.	ENSG00000176444	2069	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLK2_HUMAN	CLK2	HGNC	Q9BRG8_HUMAN,B7Z8N6_HUMAN	.	UPI0000169F47	SNV	CLK2,stop_gained,p.Glu163Ter,ENST00000361168,;CLK2,stop_gained,p.Glu164Ter,ENST00000536801,;CLK2,stop_gained,p.Glu162Ter,ENST00000355560,;CLK2,stop_gained,p.Glu164Ter,ENST00000368361,;CLK2,splice_region_variant,,ENST00000476983,;CLK2,splice_region_variant,,ENST00000471047,;CLK2,non_coding_transcript_exon_variant,,ENST00000497188,;CLK2,downstream_gene_variant,,ENST00000484699,;	574	111	102	SUCCESS
IQGAP3	128239	.	GRCh37	1	156498714	156498714	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1277547601	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	42	62	0	ENST00000361170.2:c.4565A>G	p.Asp1522Gly	p.D1522G	ENST00000361170	NM_178229.4	1522	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1144.1	4565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTCGGGG	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10,Pfam_domain:PF03836	.	.	ENSP00000354451	.	35/38	.	.	.	.	.	.	.	.	.	35/38	PASS	ENST00000361170	Transcript	.	.	ENSG00000183856	20669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.2)	.	IQGA3_HUMAN	IQGAP3	HGNC	F2Z2E2_HUMAN	.	UPI000046FFDD	SNV	IQGAP3,missense_variant,p.Asp1522Gly,ENST00000361170,;snoU13,upstream_gene_variant,,ENST00000458777,;IQGAP3,missense_variant,p.Asp1479Gly,ENST00000491900,;	4576	62	69	SUCCESS
DARS2	55157	.	GRCh37	1	173806173	173806173	+	synonymous_variant	Silent	SNP	C	C	T	rs149916824	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	20	104	0	ENST00000361951.4:c.759C>T	p.Gly253=	p.G253=	ENST00000361951	NM_018122.4	253	ggC/ggT	0	A:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS1311.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGCGGTTT	NONE	byCluster	.	PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF5,Pfam_domain:PF00152,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00459,Superfamily_domains:SSF55681	.	A:0	ENSP00000355086	.	8/17	.	.	.	.	.	.	.	.	rs149916824	8/17	PASS	ENST00000361951	Transcript	.	.	ENSG00000117593	25538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYDM_HUMAN	DARS2	HGNC	Q9H9J7_HUMAN	.	UPI00001C1D5B	SNV	DARS2,synonymous_variant,p.%3D,ENST00000361951,;DARS2,5_prime_UTR_variant,,ENST00000239457,;DARS2,upstream_gene_variant,,ENST00000471476,;	1486	104	99	SUCCESS
BRINP3	339479	.	GRCh37	1	190250737	190250737	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	164	277	0	ENST00000367462.3:c.380T>A	p.Leu127His	p.L127H	ENST00000367462	NM_199051.1	127	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS1373.1	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATAAGGTTT	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000356432	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Leu127His,ENST00000367462,;BRINP3,intron_variant,,ENST00000534846,;RP11-547I7.1,intron_variant,,ENST00000452178,;	612	277	255	SUCCESS
UBXN10	127733	.	GRCh37	1	20517360	20517360	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	25	130	0	ENST00000375099.3:c.306A>G	p.Gln102=	p.Q102=	ENST00000375099	NM_152376.3	102	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS205.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAAGTACC	NONE	.	.	hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF25	.	.	ENSP00000364240	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375099	Transcript	.	.	ENSG00000162543	26354	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBX10_HUMAN	UBXN10	HGNC	.	.	UPI000000DBEB	SNV	UBXN10,synonymous_variant,p.%3D,ENST00000375099,;UBXN10-AS1,upstream_gene_variant,,ENST00000442226,;	390	130	144	SUCCESS
CHRM3	1131	.	GRCh37	1	240071289	240071289	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	76	0	ENST00000255380.4:c.538C>G	p.Arg180Gly	p.R180G	ENST00000255380	NM_000740.2	180	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS1616.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACGAACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00243	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Arg180Gly,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	1317	76	88	SUCCESS
ARID1A	8289	.	GRCh37	1	27023218	27023222	+	frameshift_variant	Frame_Shift_Del	DEL	CCCTA	CCCTA	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	CCCTA	CCCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	26	0	ENST00000324856.7:c.324_328del	p.Pro109AlafsTer6	p.P109Afs*6	ENST00000324856	NM_006015.4	108	ggCCCTAgg/gggg	0	.	.	.	.	.	-	GPR/GX	protein_coding	YES	CCDS285.1	324-328	INDELOCATOR|VARSCANI	.	CGCGGGCCCTAGGCCC	NONE	.	.	.	.	.	ENSP00000320485	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Pro109AlafsTer6,ENST00000457599,;ARID1A,frameshift_variant,p.Pro109AlafsTer6,ENST00000324856,;RP5-968P14.2,upstream_gene_variant,,ENST00000569378,;	695-699	26	16	SUCCESS
ACTRT2	140625	.	GRCh37	1	2938945	2938945	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756034974	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	24	160	0	ENST00000378404.2:c.695C>T	p.Ser232Phe	p.S232F	ENST00000378404	NM_080431.4	232	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS45.1	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCCCGGA	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000367658	.	1/1	.	.	.	.	.	.	.	.	rs756034974	1/1	PASS	ENST00000378404	Transcript	.	.	ENSG00000169717	24026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	tolerated(0.07)	.	ACTT2_HUMAN	ACTRT2	HGNC	.	.	UPI0000070494	SNV	ACTRT2,missense_variant,p.Ser232Phe,ENST00000378404,;	900	160	141	SUCCESS
MATN1-AS1	100129196	.	GRCh37	1	31191827	31191827	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	40	0	ENST00000454613.1:n.209A>G		p.*70*	ENST00000454613				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS336.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGACACCG	NONE	.	.	.	.	.	ENSP00000362870	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373765	Transcript	.	.	ENSG00000162510	6907	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATN1_HUMAN	MATN1	HGNC	.	.	UPI000004F1ED	SNV	MATN1,intron_variant,,ENST00000373765,;MATN1-AS1,non_coding_transcript_exon_variant,,ENST00000414763,;MATN1-AS1,non_coding_transcript_exon_variant,,ENST00000414532,;MATN1-AS1,non_coding_transcript_exon_variant,,ENST00000454613,;MATN1,non_coding_transcript_exon_variant,,ENST00000477320,;MATN1,upstream_gene_variant,,ENST00000494561,;	.	40	26	SUCCESS
SCP2	6342	.	GRCh37	1	53504627	53504637	+	frameshift_variant	Frame_Shift_Del	DEL	TGCCTTCAAGG	TGCCTTCAAGG	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	TGCCTTCAAGG	TGCCTTCAAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	107	16	136	0	ENST00000371514.3:c.1379_1389del	p.Ala460GlufsTer7	p.A460Efs*7	ENST00000371514	NM_002979.4	459	ttTGCCTTCAAGGtg/tttg	0	.	.	.	.	.	-	FAFKV/FX	protein_coding	YES	CCDS572.1	1377-1387	INDELOCATOR*|VARSCANI*|PINDEL	.	TATTTTTGCCTTCAAGGTGAAA	NONE	.	.	hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Pfam_domain:PF02036,Gene3D:3.30.1050.10,Superfamily_domains:SSF55718	.	.	ENSP00000360569	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000371514	Transcript	.	.	ENSG00000116171	10606	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NLTP_HUMAN	SCP2	HGNC	.	.	UPI0000130258	deletion	SCP2,frameshift_variant,p.Ala56GlufsTer7,ENST00000435345,;SCP2,frameshift_variant,p.Ala53GlufsTer7,ENST00000430330,;SCP2,frameshift_variant,p.Ala460GlufsTer7,ENST00000371514,;SCP2,frameshift_variant,p.Ala379GlufsTer7,ENST00000528311,;SCP2,frameshift_variant,p.Ala75GlufsTer7,ENST00000478274,;SCP2,frameshift_variant,p.Ala416GlufsTer7,ENST00000371509,;SCP2,frameshift_variant,p.Ala436GlufsTer7,ENST00000407246,;SCP2,intron_variant,,ENST00000484100,;SCP2,intron_variant,,ENST00000488965,;SCP2,intron_variant,,ENST00000408941,;SCP2,3_prime_UTR_variant,,ENST00000478631,;SCP2,3_prime_UTR_variant,,ENST00000533119,;	1545-1555	136	123	SUCCESS
FAM69A	0	.	GRCh37	1	93309540	93309540	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	26	120	0	ENST00000370310.4:c.687A>T	p.Glu229Asp	p.E229D	ENST00000370310	NM_001006605.4	229	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS44173.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTTCCAT	NONE	.	.	Pfam_domain:PF12260,hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF4	.	.	ENSP00000359333	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370310	Transcript	.	.	ENSG00000154511	32213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0.03)	.	FA69A_HUMAN	FAM69A	HGNC	.	.	UPI0000037783	SNV	FAM69A,missense_variant,p.Glu229Asp,ENST00000370310,;RPL5,downstream_gene_variant,,ENST00000370321,;SNORA66,downstream_gene_variant,,ENST00000384792,;SNORA51,upstream_gene_variant,,ENST00000384295,;RPL5,downstream_gene_variant,,ENST00000497519,;	758	120	120	SUCCESS
SEL1L2	80343	.	GRCh37	20	13912332	13912332	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1323992078	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	79	0	ENST00000284951.5:c.200T>C	p.Leu67Pro	p.L67P	ENST00000284951		67	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS59443.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAGATTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102	.	.	ENSP00000367312	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000378072	Transcript	.	.	ENSG00000101251	15897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	SE1L2_HUMAN	SEL1L2	HGNC	C9JNX3_HUMAN	.	UPI000003BCBF	SNV	SEL1L2,missense_variant,p.Leu67Pro,ENST00000284951,;SEL1L2,missense_variant,p.Leu67Pro,ENST00000378072,;SEL1L2,5_prime_UTR_variant,,ENST00000473203,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000495437,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000477435,;SEL1L2,missense_variant,p.Leu67Pro,ENST00000423870,;	282	79	91	SUCCESS
ZFP64	55734	.	GRCh37	20	50781292	50781292	+	synonymous_variant	Silent	SNP	G	G	A	rs918177723	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	35	0	ENST00000216923.4:c.453C>T	p.Cys151=	p.C151=	ENST00000216923	NM_199426.1	151	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS13440.1	453	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGGCAACC	NONE	.	.	hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27,SMART_domains:SM00355	.	.	ENSP00000216923	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000216923	Transcript	.	.	ENSG00000020256	15940	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZF64A_HUMAN	ZFP64	HGNC	B3KQX0_HUMAN	.	UPI000006D699	SNV	ZFP64,synonymous_variant,p.%3D,ENST00000371515,;ZFP64,synonymous_variant,p.%3D,ENST00000346617,;ZFP64,synonymous_variant,p.%3D,ENST00000216923,;ZFP64,synonymous_variant,p.%3D,ENST00000371518,;ZFP64,synonymous_variant,p.%3D,ENST00000361387,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;	803	35	40	SUCCESS
OGFR	11054	.	GRCh37	20	61443981	61443981	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	133	0	ENST00000290291.6:c.1014G>T	p.Gly338=	p.G338=	ENST00000290291	NM_007346.2	338	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13504.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGGGCAG	NONE	.	.	hmmpanther:PTHR14015:SF1,hmmpanther:PTHR14015	.	.	ENSP00000290291	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000290291	Transcript	.	.	ENSG00000060491	15768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OGFR_HUMAN	OGFR	HGNC	Q4VXW3_HUMAN	.	UPI000013F107	SNV	OGFR,synonymous_variant,p.%3D,ENST00000370461,;OGFR,synonymous_variant,p.%3D,ENST00000290291,;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000343916,;COL9A3,upstream_gene_variant,,ENST00000489045,;COL9A3,upstream_gene_variant,,ENST00000477612,;	1039	133	100	SUCCESS
BRWD1	54014	.	GRCh37	21	40568678	40568678	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	55	0	ENST00000333229.2:c.6317A>G	p.Lys2106Arg	p.K2106R	ENST00000333229	NM_018963.4	2106	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13662.1	6317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTTTCCA	NONE	.	.	.	.	.	ENSP00000330753	.	41/42	.	.	.	.	.	.	.	.	.	41/42	PASS	ENST00000333229	Transcript	.	.	ENSG00000185658	12760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated_low_confidence(0.38)	.	BRWD1_HUMAN	BRWD1	HGNC	.	.	UPI0000163C12	SNV	BRWD1,missense_variant,p.Lys2106Arg,ENST00000342449,;BRWD1,missense_variant,p.Lys2106Arg,ENST00000380800,;BRWD1,missense_variant,p.Lys2106Arg,ENST00000333229,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,downstream_gene_variant,,ENST00000491564,;	6645	55	41	SUCCESS
SLC37A1	54020	.	GRCh37	21	43955639	43955639	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs564499706	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	85	0	ENST00000352133.2:c.329A>G	p.Tyr110Cys	p.Y110C	ENST00000352133		110	tAt/tGt	0	.	G:0	.	G:0	.	G	Y/C	protein_coding	YES	CCDS13689.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTATGCCG	NONE	by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,PIRSF_domain:PIRSF002808,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF225,PROSITE_profiles:PS50850	G:0	.	ENSP00000344648	G:0.001	5/20	.	.	.	.	.	.	.	.	rs564499706	5/20	PASS	ENST00000352133	Transcript	.	G:0.0002	ENSG00000160190	11024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	G:0	deleterious(0)	.	GLPT_HUMAN	SLC37A1	HGNC	.	.	UPI00001AEB81	SNV	SLC37A1,missense_variant,p.Tyr110Cys,ENST00000398341,;SLC37A1,missense_variant,p.Tyr110Cys,ENST00000352133,;	1311	85	65	SUCCESS
CCDC116	164592	.	GRCh37	22	21989329	21989329	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	65	0	ENST00000292779.3:c.977G>C	p.Gly326Ala	p.G326A	ENST00000292779	NM_152612.2	326	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS13791.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGGCGCCC	NONE	.	.	.	.	.	ENSP00000292779	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000292779	Transcript	.	.	ENSG00000161180	26688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.23)	.	CC116_HUMAN	CCDC116	HGNC	.	.	UPI00000741C9	SNV	CCDC116,missense_variant,p.Gly326Ala,ENST00000607942,;CCDC116,missense_variant,p.Gly326Ala,ENST00000292779,;CCDC116,downstream_gene_variant,,ENST00000425975,;YDJC,upstream_gene_variant,,ENST00000292778,;YDJC,upstream_gene_variant,,ENST00000415762,;	1138	65	63	SUCCESS
LARGE	0	.	GRCh37	22	33733771	33733771	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	145	0	ENST00000354992.2:c.1148C>G	p.Ser383Cys	p.S383C	ENST00000354992	NM_004737.4	383	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS13912.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGAGTTC	NONE	.	.	hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF18,Pfam_domain:PF01501,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000347088	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000354992	Transcript	.	.	ENSG00000133424	6511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	LARGE_HUMAN	LARGE	HGNC	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN	.	UPI000012E200	SNV	LARGE,missense_variant,p.Ser182Cys,ENST00000452586,;LARGE,missense_variant,p.Ser383Cys,ENST00000354992,;LARGE,missense_variant,p.Ser182Cys,ENST00000421768,;LARGE,missense_variant,p.Ser383Cys,ENST00000437602,;LARGE,missense_variant,p.Ser60Cys,ENST00000609799,;LARGE,missense_variant,p.Ser60Cys,ENST00000608642,;LARGE,missense_variant,p.Ser60Cys,ENST00000610186,;LARGE,missense_variant,p.Ser383Cys,ENST00000397394,;LARGE,intron_variant,,ENST00000337431,;LARGE,intron_variant,,ENST00000402320,;	1720	145	111	SUCCESS
MEI1	150365	.	GRCh37	22	42180662	42180662	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs552706678	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	19	0	ENST00000401548.3:c.3220G>A	p.Ala1074Thr	p.A1074T	ENST00000401548	NM_152513.3	1074	Gcc/Acc	0	.	T:0	.	T:0	.	A	A/T	protein_coding	YES	CCDS46718.1	3220	RADIA|MUTECT|MUSE	.	CCTCTGCCCTG	NONE	by1000G	.	hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10	T:0	.	ENSP00000384115	T:0	26/31	.	.	.	.	.	.	.	.	rs552706678	26/31	PASS	ENST00000401548	Transcript	.	T:0.0002	ENSG00000167077	28613	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	T:0.001	tolerated(0.15)	.	MEI1_HUMAN	MEI1	HGNC	.	.	UPI00006E232C	SNV	MEI1,missense_variant,p.Ala82Thr,ENST00000300398,;MEI1,missense_variant,p.Ala82Thr,ENST00000403492,;MEI1,missense_variant,p.Ala1074Thr,ENST00000401548,;MEI1,missense_variant,p.Ala407Thr,ENST00000400107,;MEI1,downstream_gene_variant,,ENST00000540880,;MEI1,non_coding_transcript_exon_variant,,ENST00000476893,;MEI1,intron_variant,,ENST00000487535,;MEI1,intron_variant,,ENST00000484966,;MEI1,downstream_gene_variant,,ENST00000462246,;MEI1,downstream_gene_variant,,ENST00000498456,;MEI1,downstream_gene_variant,,ENST00000462450,;MEI1,downstream_gene_variant,,ENST00000473736,;	3260	19	11	SUCCESS
PRR5	55615	.	GRCh37	22	45132994	45132994	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776983827	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	37	88	0	ENST00000336985.6:c.1034C>T	p.Pro345Leu	p.P345L	ENST00000336985	NM_181333.3	345	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS56232.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCGGAGA	NONE	byFrequency	.	hmmpanther:PTHR32428,hmmpanther:PTHR32428:SF4	.	.	ENSP00000384848	.	10/10	.	.	.	.	.	.	.	.	rs776983827	10/10	PASS	ENST00000403581	Transcript	.	.	ENSG00000186654	31682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated_low_confidence(0.07)	.	PRR5_HUMAN	PRR5	HGNC	B1AHG4_HUMAN,B1AHG3_HUMAN	.	UPI00002327F8	SNV	PRR5,missense_variant,p.Pro368Leu,ENST00000403581,;PRR5,missense_variant,p.Pro345Leu,ENST00000336985,;PRR5,missense_variant,p.Pro305Leu,ENST00000455389,;PRR5,missense_variant,p.Pro336Leu,ENST00000006251,;PRR5-ARHGAP8,intron_variant,,ENST00000352766,;PRR5-ARHGAP8,intron_variant,,ENST00000515632,;ARHGAP8,intron_variant,,ENST00000517296,;ARHGAP8,intron_variant,,ENST00000389773,;PRR5-ARHGAP8,intron_variant,,ENST00000361473,;PRR5,downstream_gene_variant,,ENST00000457960,;PRR5,downstream_gene_variant,,ENST00000432186,;PRR5,downstream_gene_variant,,ENST00000403696,;PRR5,non_coding_transcript_exon_variant,,ENST00000477331,;PRR5,downstream_gene_variant,,ENST00000492475,;PRR5,3_prime_UTR_variant,,ENST00000431834,;PRR5,3_prime_UTR_variant,,ENST00000432916,;PRR5,non_coding_transcript_exon_variant,,ENST00000475850,;PRR5,non_coding_transcript_exon_variant,,ENST00000495017,;PRR5-ARHGAP8,intron_variant,,ENST00000495250,;	1712	88	79	SUCCESS
R3HDM1	23518	.	GRCh37	2	136481727	136481727	+	synonymous_variant	Silent	SNP	C	C	G	rs767349366	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	44	161	0	ENST00000264160.4:c.3165C>G	p.Val1055=	p.V1055=	ENST00000264160	NM_015361.2	1055	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS2177.1	3165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTCTTAGC	NONE	.	.	hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF12	.	.	ENSP00000264160	.	26/26	.	.	.	.	.	.	.	.	rs767349366	26/26	PASS	ENST00000264160	Transcript	.	.	ENSG00000048991	9757	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HD1_HUMAN	R3HDM1	HGNC	Q53SQ1_HUMAN,Q4ZG59_HUMAN	.	UPI000007456C	SNV	R3HDM1,synonymous_variant,p.%3D,ENST00000429703,;R3HDM1,synonymous_variant,p.%3D,ENST00000409478,;R3HDM1,synonymous_variant,p.%3D,ENST00000264160,;R3HDM1,synonymous_variant,p.%3D,ENST00000410054,;R3HDM1,synonymous_variant,p.%3D,ENST00000409606,;R3HDM1,synonymous_variant,p.%3D,ENST00000329971,;R3HDM1,downstream_gene_variant,,ENST00000445855,;R3HDM1,downstream_gene_variant,,ENST00000483065,;	3535	161	189	SUCCESS
DARS	0	.	GRCh37	2	136691481	136691481	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	199	309	0	ENST00000264161.4:c.503A>T	p.Glu168Val	p.E168V	ENST00000264161	NM_001349.2	168	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2180.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTCTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF10,TIGRFAM_domain:TIGR00458	.	.	ENSP00000264161	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000264161	Transcript	.	.	ENSG00000115866	2678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.06)	.	SYDC_HUMAN	DARS	HGNC	Q68CR9_HUMAN,Q53T60_HUMAN,Q53R85_HUMAN,D3DP78_HUMAN,C9JQM9_HUMAN,C9JLC1_HUMAN,C9J7S3_HUMAN	.	UPI000013639B	SNV	DARS,missense_variant,p.Glu68Val,ENST00000537273,;DARS,missense_variant,p.Glu135Val,ENST00000456565,;DARS,missense_variant,p.Glu135Val,ENST00000449218,;DARS,missense_variant,p.Glu135Val,ENST00000441323,;DARS,missense_variant,p.Glu168Val,ENST00000264161,;	719	309	327	SUCCESS
COBLL1	22837	.	GRCh37	2	165559721	165559721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	82	0	ENST00000392717.2:c.1349A>G	p.His450Arg	p.H450R	ENST00000392717		450	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2223.2	1235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTGAAAG	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.35)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.His412Arg,ENST00000342193,;COBLL1,missense_variant,p.His450Arg,ENST00000392717,;COBLL1,missense_variant,p.His478Arg,ENST00000194871,;COBLL1,intron_variant,,ENST00000375458,;COBLL1,intron_variant,,ENST00000409184,;COBLL1,intron_variant,,ENST00000491126,;COBLL1,downstream_gene_variant,,ENST00000434366,;COBLL1,3_prime_UTR_variant,,ENST00000456171,;COBLL1,intron_variant,,ENST00000493868,;COBLL1,intron_variant,,ENST00000460238,;COBLL1,upstream_gene_variant,,ENST00000489955,;	1451	82	48	SUCCESS
METTL8	79828	.	GRCh37	2	172182584	172182584	+	intron_variant,NMD_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	180	256	0	ENST00000392604.2:c.861-168G>A		p.*287*	ENST00000392604		312		0	.	.	.	.	.	T	R/K	protein_coding	YES	.	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCTTCCA	NONE	.	.	Superfamily_domains:SSF53335,PIRSF_domain:PIRSF037755,Gene3D:3.40.50.150,hmmpanther:PTHR22809:SF3,hmmpanther:PTHR22809	.	.	ENSP00000364407	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000375258	Transcript	.	.	ENSG00000123600	25856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	.	METTL8	HGNC	E7ETE0_HUMAN,C9JE69_HUMAN,C9J6U8_HUMAN,C9J3F1_HUMAN,B3KW44_HUMAN	.	UPI0000D4CA51	SNV	METTL8,missense_variant,p.Arg148Lys,ENST00000438609,;METTL8,missense_variant,p.Arg312Lys,ENST00000375258,;METTL8,downstream_gene_variant,,ENST00000392599,;METTL8,non_coding_transcript_exon_variant,,ENST00000460188,;METTL8,non_coding_transcript_exon_variant,,ENST00000463392,;METTL8,intron_variant,,ENST00000477130,;METTL8,non_coding_transcript_exon_variant,,ENST00000464491,;METTL8,non_coding_transcript_exon_variant,,ENST00000470773,;METTL8,non_coding_transcript_exon_variant,,ENST00000483284,;METTL8,intron_variant,,ENST00000392604,;METTL8,intron_variant,,ENST00000447486,;	1151	256	290	SUCCESS
APOB	338	.	GRCh37	2	21229519	21229519	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	50	91	0	ENST00000233242.1:c.10221G>T	p.Glu3407Asp	p.E3407D	ENST00000233242	NM_000384.2	3407	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS1703.1	10221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCTCCAC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Glu3407Asp,ENST00000233242,;	10349	91	82	SUCCESS
EPHA4	2043	.	GRCh37	2	222347314	222347314	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	96	0	ENST00000281821.2:c.1076A>G	p.Asp359Gly	p.D359G	ENST00000281821	NM_004438.3	359	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2447.1	1076	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTCCTGG	BUFFER|p.S361F|c.1082C>T|3,BUFFER|p.S361F|c.1082C>T|3	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000281821	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Asp359Gly,ENST00000281821,;EPHA4,missense_variant,p.Asp96Gly,ENST00000441679,;EPHA4,missense_variant,p.Asp359Gly,ENST00000409854,;EPHA4,missense_variant,p.Asp63Gly,ENST00000443796,;EPHA4,missense_variant,p.Asp308Gly,ENST00000392071,;EPHA4,missense_variant,p.Asp359Gly,ENST00000409938,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	1118	97	88	SUCCESS
ARMC9	80210	.	GRCh37	2	232123721	232123721	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	54	70	0	ENST00000349938.4:c.932C>T	p.Pro311Leu	p.P311L	ENST00000349938	NM_025139.4	311	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2484.1	932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCATTAC	NONE	.	.	hmmpanther:PTHR14881,Gene3D:1.25.10.10	.	.	ENSP00000258417	.	11/21	.	.	.	.	.	.	.	.	COSM1283506,COSM1283507	11/21	PASS	ENST00000349938	Transcript	.	.	ENSG00000135931	20730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.816)	.	deleterious(0)	1,1	ARMC9_HUMAN	ARMC9	HGNC	C9JW07_HUMAN	.	UPI00001AE7AC	SNV	ARMC9,missense_variant,p.Pro311Leu,ENST00000349938,;ARMC9,missense_variant,p.Pro14Leu,ENST00000424740,;ARMC9,missense_variant,p.Pro28Leu,ENST00000436339,;ARMC9,non_coding_transcript_exon_variant,,ENST00000483477,;ARMC9,non_coding_transcript_exon_variant,,ENST00000467698,;AC018738.2,downstream_gene_variant,,ENST00000441378,;	1126	70	83	SUCCESS
CLIP4	79745	.	GRCh37	2	29366802	29366802	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	81	133	0	ENST00000320081.5:c.876A>T	p.Ala292=	p.A292=	ENST00000320081	NM_024692.4	292	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1770.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCAGGACA	NONE	.	.	Superfamily_domains:SSF74924,SMART_domains:SM01052,Gene3D:2.30.30.190,Pfam_domain:PF01302,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32	.	.	ENSP00000327009	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000320081	Transcript	.	.	ENSG00000115295	26108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLIP4_HUMAN	CLIP4	HGNC	Q53QT5_HUMAN,Q4ZFY2_HUMAN,E7EW06_HUMAN,C9IYE4_HUMAN,A8K6D0_HUMAN	.	UPI000006F0E8	SNV	CLIP4,synonymous_variant,p.%3D,ENST00000401605,;CLIP4,synonymous_variant,p.%3D,ENST00000320081,;CLIP4,synonymous_variant,p.%3D,ENST00000404424,;CLIP4,synonymous_variant,p.%3D,ENST00000401617,;CLIP4,synonymous_variant,p.%3D,ENST00000415891,;CLIP4,3_prime_UTR_variant,,ENST00000456385,;	1131	133	134	SUCCESS
CNGA3	1261	.	GRCh37	2	98994559	98994559	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	27	172	1	ENST00000272602.2:c.215+296T>G		p.*72*	ENST00000272602				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2034.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTGGTAA	NONE	.	.	.	.	.	ENSP00000377140	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Val34Gly,ENST00000409937,;CNGA3,intron_variant,,ENST00000436404,;CNGA3,intron_variant,,ENST00000393504,;CNGA3,intron_variant,,ENST00000272602,;CNGA3,upstream_gene_variant,,ENST00000393503,;	.	173	175	SUCCESS
SLC6A11	6538	.	GRCh37	3	10970945	10970945	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs979049585	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	54	139	0	ENST00000254488.2:c.1291C>T	p.Arg431Trp	p.R431W	ENST00000254488	NM_014229.1	431	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2602.1	1291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCGGAGG	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000254488	.	10/14	.	.	.	.	.	.	.	.	COSM1669968	10/14	PASS	ENST00000254488	Transcript	.	.	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Arg431Trp,ENST00000254488,;SLC6A11,upstream_gene_variant,,ENST00000464828,;	1357	139	159	SUCCESS
SPICE1	152185	.	GRCh37	3	113212129	113212129	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	77	0	ENST00000295872.4:c.416C>A	p.Ser139Tyr	p.S139Y	ENST00000295872	NM_144718.3	139	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2973.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGAATCA	NONE	.	.	hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2	.	.	ENSP00000295872	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000295872	Transcript	.	.	ENSG00000163611	25083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	SPICE_HUMAN	SPICE1	HGNC	C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN	.	UPI000007328D	SNV	SPICE1,missense_variant,p.Ser139Tyr,ENST00000495812,;SPICE1,missense_variant,p.Ser139Tyr,ENST00000295872,;SPICE1,missense_variant,p.Ser139Tyr,ENST00000480527,;SPICE1,upstream_gene_variant,,ENST00000467618,;SPICE1,non_coding_transcript_exon_variant,,ENST00000496105,;	676	77	96	SUCCESS
PLXND1	23129	.	GRCh37	3	129282004	129282004	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	62	0	ENST00000324093.4:c.4601C>G	p.Thr1534Arg	p.T1534R	ENST00000324093	NM_015103.2	1534	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS33854.1	4601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGTGATG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000317128	.	26/36	.	.	.	.	.	.	.	.	.	26/36	PASS	ENST00000324093	Transcript	.	.	ENSG00000004399	9107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLXD1_HUMAN	PLXND1	HGNC	Q6P657_HUMAN	.	UPI00003671AD	SNV	PLXND1,missense_variant,p.Thr1534Arg,ENST00000324093,;PLXND1,missense_variant,p.Thr1534Arg,ENST00000393239,;PLXND1,upstream_gene_variant,,ENST00000506979,;PLXND1,missense_variant,p.Thr129Arg,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000503166,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504979,;PLXND1,upstream_gene_variant,,ENST00000512807,;PLXND1,upstream_gene_variant,,ENST00000504524,;PLXND1,upstream_gene_variant,,ENST00000508630,;	4780	62	47	SUCCESS
ACPP	0	.	GRCh37	3	132086623	132086623	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs769775568	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	46	0	ENST00000351273.7:c.1214G>C	p.Arg405Pro	p.R405P	ENST00000351273	NM_001134194.1	405	cGc/cCc	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS46916.1	1214	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGCCGTG	NONE	byFrequency	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567	.	.	ENSP00000323036	.	11/11	.	.	.	.	.	.	.	.	rs769775568,COSM1038393	11/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.96)	.	deleterious(0.02)	0,1	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,missense_variant,p.Arg405Pro,ENST00000351273,;	1264	46	63	SUCCESS
COLQ	8292	.	GRCh37	3	15507879	15507879	+	synonymous_variant	Silent	SNP	G	G	T	rs745798750	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	282	56	273	0	ENST00000383788.5:c.783C>A	p.Gly261=	p.G261=	ENST00000383788	NM_005677.3	261	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33709.1	783	RADIA|MUTECT|MUSE|VARSCANS	.	GGACGGCCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF6,Pfam_domain:PF01391	.	.	ENSP00000373298	.	12/17	.	.	.	.	.	.	.	.	rs745798750	12/17	PASS	ENST00000383788	Transcript	.	.	ENSG00000206561	2226	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COLQ_HUMAN	COLQ	HGNC	.	.	UPI000013F74C	SNV	COLQ,synonymous_variant,p.%3D,ENST00000383788,;COLQ,synonymous_variant,p.%3D,ENST00000383781,;COLQ,synonymous_variant,p.%3D,ENST00000603808,;COLQ,synonymous_variant,p.%3D,ENST00000383787,;COLQ,synonymous_variant,p.%3D,ENST00000383786,;COLQ,synonymous_variant,p.%3D,ENST00000435459,;COLQ,3_prime_UTR_variant,,ENST00000383785,;COLQ,downstream_gene_variant,,ENST00000605797,;	909	273	338	SUCCESS
TOP2B	7155	.	GRCh37	3	25686805	25686805	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	562	306	180	0	ENST00000264331.4:c.226G>C	p.Glu76Gln	p.E76Q	ENST00000264331		76	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS46776.1	211	RADIA|MUTECT|MUSE	.	TGGCTCCACTG	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000396704	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.676)	.	deleterious(0.01)	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,missense_variant,p.Glu76Gln,ENST00000264331,;TOP2B,missense_variant,p.Glu71Gln,ENST00000435706,;TOP2B,missense_variant,p.Glu71Gln,ENST00000424225,;	413	180	868	SUCCESS
TOP2B	7155	.	GRCh37	3	25686847	25686847	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	564	302	167	0	ENST00000264331.4:c.184G>A	p.Glu62Lys	p.E62K	ENST00000264331		62	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46776.1	169	RADIA|MUTECT|MUSE	.	GTGTTCAAGTT	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000396704	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,missense_variant,p.Glu62Lys,ENST00000264331,;TOP2B,missense_variant,p.Glu57Lys,ENST00000435706,;TOP2B,missense_variant,p.Glu57Lys,ENST00000424225,;	371	167	867	SUCCESS
SCN11A	11280	.	GRCh37	3	38904741	38904741	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	49	0	ENST00000302328.3:c.4001A>T	p.Asn1334Ile	p.N1334I	ENST00000302328	NM_014139.2	1334	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS33737.1	4001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCATTATAG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Gene3D:1byyA00	.	.	ENSP00000307599	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,missense_variant,p.Asn1334Ile,ENST00000450244,;SCN11A,missense_variant,p.Asn1334Ile,ENST00000302328,;SCN11A,missense_variant,p.Asn1334Ile,ENST00000444237,;SCN11A,missense_variant,p.Asn1296Ile,ENST00000456224,;	4200	49	75	SUCCESS
ZNF502	91392	.	GRCh37	3	44763599	44763599	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	54	118	0	ENST00000296091.4:c.1290T>A	p.Thr430=	p.T430=	ENST00000296091	NM_001134440.1	430	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2719.1	1290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTGGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000296091	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000296091	Transcript	.	.	ENSG00000196653	23718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN502_HUMAN	ZNF502	HGNC	C9JLT3_HUMAN	.	UPI0000072CFB	SNV	ZNF502,synonymous_variant,p.%3D,ENST00000449836,;ZNF502,synonymous_variant,p.%3D,ENST00000436624,;ZNF502,synonymous_variant,p.%3D,ENST00000296091,;ZNF502,downstream_gene_variant,,ENST00000411443,;	1546	118	137	SUCCESS
SETD2	29072	.	GRCh37	3	47165225	47165225	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	97	0	ENST00000409792.3:c.901A>T	p.Ser301Cys	p.S301C	ENST00000409792	NM_014159.6	301	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2749.2	901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTCAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.13)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Ser301Cys,ENST00000409792,;SETD2,missense_variant,p.Ser257Cys,ENST00000412450,;SETD2,missense_variant,p.Ser173Cys,ENST00000330022,;SETD2,missense_variant,p.Ser19Cys,ENST00000431180,;SETD2,upstream_gene_variant,,ENST00000445387,;	944	97	84	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64526830	64526830	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	79	153	0	ENST00000498707.1:c.5462C>A	p.Ala1821Asp	p.A1821D	ENST00000498707	NM_182920.1	1821	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS2903.1	5462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCCGTG	NONE	.	.	PROSITE_profiles:PS51046,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF08685	.	.	ENSP00000418735	.	36/40	.	.	.	.	.	.	.	.	.	36/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	deleterious(0.01)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Ala877Asp,ENST00000481060,;ADAMTS9,missense_variant,p.Ala1793Asp,ENST00000295903,;ADAMTS9,missense_variant,p.Ala1821Asp,ENST00000498707,;	5805	154	188	SUCCESS
ZNF518B	85460	.	GRCh37	4	10446373	10446373	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	55	234	0	ENST00000326756.3:c.1580T>A	p.Leu527Ter	p.L527*	ENST00000326756	NM_053042.2	527	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS33960.1	1580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTAACTGC	NONE	.	.	hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032	.	.	ENSP00000317614	.	3/3	.	.	.	.	.	.	.	.	COSM1426044	3/3	PASS	ENST00000326756	Transcript	.	.	ENSG00000178163	29365	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	Z518B_HUMAN	ZNF518B	HGNC	D6RDM9_HUMAN	.	UPI0000160B97	SNV	ZNF518B,stop_gained,p.Leu527Ter,ENST00000326756,;ZNF518B,downstream_gene_variant,,ENST00000507515,;	2019	234	153	SUCCESS
N4BP2	55728	.	GRCh37	4	40154482	40154482	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	39	116	0	ENST00000261435.6:c.5226C>G	p.Ile1742Met	p.I1742M	ENST00000261435	NM_018177.4	1742	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS3457.1	5226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCATCAAACC	NONE	.	.	PROSITE_profiles:PS50828,hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308,Pfam_domain:PF01713,SMART_domains:SM00463,Superfamily_domains:0053808	.	.	ENSP00000261435	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,missense_variant,p.Ile1372Met,ENST00000513269,;N4BP2,missense_variant,p.Ile1742Met,ENST00000261435,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	5642	116	163	SUCCESS
PIGG	54872	.	GRCh37	4	515466	515466	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	59	0	ENST00000453061.2:c.1350G>A	p.Leu450=	p.L450=	ENST00000453061	NM_001127178.1	450	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46992.1	1350	MUTECT|MUSE	.	CTCCTGCTCAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23072:SF0,hmmpanther:PTHR23072	.	.	ENSP00000415203	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000453061	Transcript	.	.	ENSG00000174227	25985	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PIGG_HUMAN	PIGG	HGNC	E7EWV1_HUMAN,D6RC16_HUMAN	.	UPI00004C7A82	SNV	PIGG,missense_variant,p.Ala289Thr,ENST00000296306,;PIGG,missense_variant,p.Cys313Tyr,ENST00000536264,;PIGG,missense_variant,p.Ala289Thr,ENST00000503111,;PIGG,synonymous_variant,p.%3D,ENST00000310340,;PIGG,synonymous_variant,p.%3D,ENST00000383028,;PIGG,synonymous_variant,p.%3D,ENST00000504346,;PIGG,synonymous_variant,p.%3D,ENST00000453061,;PIGG,synonymous_variant,p.%3D,ENST00000509768,;PIGG,upstream_gene_variant,,ENST00000510235,;PIGG,non_coding_transcript_exon_variant,,ENST00000507493,;PIGG,non_coding_transcript_exon_variant,,ENST00000506898,;PIGG,upstream_gene_variant,,ENST00000503261,;PIGG,upstream_gene_variant,,ENST00000513679,;PIGG,upstream_gene_variant,,ENST00000508562,;PIGG,upstream_gene_variant,,ENST00000511247,;PIGG,missense_variant,p.Cys435Tyr,ENST00000506402,;PIGG,3_prime_UTR_variant,,ENST00000504187,;PIGG,upstream_gene_variant,,ENST00000508669,;	1456	59	50	SUCCESS
CEP120	153241	.	GRCh37	5	122754208	122754208	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	79	0	ENST00000306467.5:c.51T>G		p.X17_splice	ENST00000306467		17	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS4134.2	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGACCTGG	NONE	.	.	hmmpanther:PTHR21574,Pfam_domain:PF12416,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000303058	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000306467	Transcript	1	.	ENSG00000168944	26690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE120_HUMAN	CEP120	HGNC	F8VRV0_HUMAN,D6REX9_HUMAN,D6RC69_HUMAN	.	UPI0000D79C73	SNV	CEP120,missense_variant,p.Ser54Ala,ENST00000515110,;CEP120,synonymous_variant,p.%3D,ENST00000395431,;CEP120,synonymous_variant,p.%3D,ENST00000306467,;CEP120,synonymous_variant,p.%3D,ENST00000328236,;CEP120,synonymous_variant,p.%3D,ENST00000510582,;CEP120,splice_region_variant,,ENST00000508442,;CEP120,splice_region_variant,,ENST00000306481,;CEP120,synonymous_variant,p.%3D,ENST00000513565,;CEP120,synonymous_variant,p.%3D,ENST00000508138,;	356	79	74	SUCCESS
PDE6A	5145	.	GRCh37	5	149247346	149247346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	50	0	ENST00000255266.5:c.2216C>A	p.Ala739Asp	p.A739D	ENST00000255266	NM_000440.2	739	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4299.1	2216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCCACC	NONE	.	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,Superfamily_domains:SSF109604,Prints_domain:PR00387	.	.	ENSP00000255266	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,missense_variant,p.Ala739Asp,ENST00000255266,;PDE6A,non_coding_transcript_exon_variant,,ENST00000512670,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	2336	50	58	SUCCESS
PRDM9	56979	.	GRCh37	5	23526821	23526821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	75	169	0	ENST00000296682.3:c.1624C>A	p.His542Asn	p.H542N	ENST00000296682	NM_020227.2	542	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS43307.1	1624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACACACCAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	.	.	ENSP00000296682	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.15)	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,missense_variant,p.His542Asn,ENST00000296682,;	1806	169	290	SUCCESS
PLCXD3	345557	.	GRCh37	5	41382470	41382470	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	123	125	0	ENST00000328457.3:c.270T>A	p.Ala90=	p.A90=	ENST00000328457	NM_001005473.2	90	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34150.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGCTCC	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Gene3D:3.20.20.190,Pfam_domain:PF00388,SMART_domains:SM00148,Superfamily_domains:SSF51695	.	.	ENSP00000367032	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377801	Transcript	.	.	ENSG00000182836	31822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX3_HUMAN	PLCXD3	HGNC	B3KXD1_HUMAN	.	UPI0000049DBB	SNV	PLCXD3,synonymous_variant,p.%3D,ENST00000328457,;PLCXD3,synonymous_variant,p.%3D,ENST00000377801,;	345	125	209	SUCCESS
C5orf28	0	.	GRCh37	5	43446574	43446574	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	103	98	0	ENST00000397080.3:c.398A>G	p.His133Arg	p.H133R	ENST00000397080	NM_022483.4	133	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3945.1	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGTGCATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13628,hmmpanther:PTHR13628:SF1	.	.	ENSP00000426067	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000500337	Transcript	.	.	ENSG00000151881	26139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.24)	.	CE028_HUMAN	C5orf28	HGNC	Q6GMT5_HUMAN,D6RAV6_HUMAN	.	UPI000006FA64	SNV	C5orf28,missense_variant,p.His133Arg,ENST00000397080,;C5orf28,missense_variant,p.His133Arg,ENST00000500337,;C5orf28,missense_variant,p.His31Arg,ENST00000510130,;C5orf28,missense_variant,p.His2Arg,ENST00000537319,;C5orf28,missense_variant,p.His133Arg,ENST00000506860,;C5orf28,missense_variant,p.His133Arg,ENST00000512085,;C5orf28,non_coding_transcript_exon_variant,,ENST00000511525,;	730	98	166	SUCCESS
SIM1	6492	.	GRCh37	6	100896528	100896528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	21	0	ENST00000262901.4:c.570G>T	p.Lys190Asn	p.K190N	ENST00000262901	NM_005068.2	190	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5045.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATCTTCAA	NONE	.	.	hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Superfamily_domains:SSF55785	.	.	ENSP00000358210	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000369208	Transcript	.	.	ENSG00000112246	10882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	SIM1_HUMAN	SIM1	HGNC	.	.	UPI000013D355	SNV	SIM1,missense_variant,p.Lys190Asn,ENST00000369208,;SIM1,missense_variant,p.Lys190Asn,ENST00000262901,;	1353	21	23	SUCCESS
PTPRK	5796	.	GRCh37	6	128403764	128403764	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777701770	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	92	0	ENST00000368215.3:c.1595G>T	p.Arg532Ile	p.R532I	ENST00000368215		532	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS47473.1	1595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTTATA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	.	ENSP00000357196	.	10/31	.	.	.	.	.	.	.	.	rs777701770	10/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.466)	.	tolerated(0.06)	.	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	SNV	PTPRK,missense_variant,p.Arg532Ile,ENST00000532331,;PTPRK,missense_variant,p.Arg532Ile,ENST00000368226,;PTPRK,missense_variant,p.Arg532Ile,ENST00000368215,;PTPRK,missense_variant,p.Arg532Ile,ENST00000368207,;PTPRK,missense_variant,p.Arg532Ile,ENST00000368210,;PTPRK,missense_variant,p.Arg532Ile,ENST00000368227,;PTPRK,missense_variant,p.Arg532Ile,ENST00000368213,;RP11-103C16.2,intron_variant,,ENST00000417390,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	1820	92	111	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151161379	151161380	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	86	0	ENST00000358517.2:c.3506_3507del	p.Lys1169ArgfsTer5	p.K1169Rfs*5	ENST00000358517		1169	AAa/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS34552.1	3505-3506	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCGGAAAGGGA	NONE	.	.	.	.	.	ENSP00000356297	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000367328	Transcript	.	.	ENSG00000120278	20884	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	deletion	PLEKHG1,frameshift_variant,p.Lys1169ArgfsTer5,ENST00000367328,;PLEKHG1,frameshift_variant,p.Lys1169ArgfsTer5,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;	3817-3818	86	93	SUCCESS
MUC21	394263	.	GRCh37	6	30951677	30951677	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	36	0	ENST00000376296.3:c.-59T>C		p.*20*	ENST00000376296	NM_001010909.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34388.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTCTAAA	NONE	.	.	.	.	.	ENSP00000365473	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376296	Transcript	.	.	ENSG00000204544	21661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC21_HUMAN	MUC21	HGNC	.	.	UPI000047030C	SNV	MUC21,5_prime_UTR_variant,,ENST00000376296,;MUC21,5_prime_UTR_variant,,ENST00000486149,;	183	36	32	SUCCESS
COL11A2	1302	.	GRCh37	6	33135050	33135051	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	118	43	117	0	ENST00000374708.4:c.3908dup	p.Gly1304ArgfsTer35	p.G1304Rfs*35	ENST00000374708	NM_080681.2	1303	cca/ccCa	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS43452.1	3908-3909	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACCTGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,Pfam_domain:PF01391	.	.	ENSP00000363840	.	55/64	.	.	.	.	.	.	.	.	.	55/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	insertion	COL11A2,frameshift_variant,p.Gly1330ArgfsTer35,ENST00000395197,;COL11A2,frameshift_variant,p.Gly1343ArgfsTer35,ENST00000374713,;COL11A2,frameshift_variant,p.Gly1283ArgfsTer35,ENST00000361917,;COL11A2,frameshift_variant,p.Gly1369ArgfsTer35,ENST00000357486,;COL11A2,frameshift_variant,p.Gly1309ArgfsTer35,ENST00000374712,;COL11A2,frameshift_variant,p.Gly1304ArgfsTer35,ENST00000374708,;COL11A2,frameshift_variant,p.Gly1390ArgfsTer35,ENST00000341947,;COL11A2,frameshift_variant,p.Gly1364ArgfsTer35,ENST00000374714,;COL11A2,intron_variant,,ENST00000477772,;	4167-4168	117	161	SUCCESS
PIM1	5292	.	GRCh37	6	37139141	37139141	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	63	156	0	ENST00000373509.5:c.481T>A	p.Cys161Ser	p.C161S	ENST00000373509	NM_002648.3	161	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS4830.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACTGCGGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22984,hmmpanther:PTHR22984:SF4,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362608	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000373509	Transcript	.	.	ENSG00000137193	8986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.25)	.	PIM1_HUMAN	PIM1	HGNC	.	.	UPI0000001060	SNV	PIM1,missense_variant,p.Cys161Ser,ENST00000373509,;PIM1,upstream_gene_variant,,ENST00000479509,;PIM1,upstream_gene_variant,,ENST00000468243,;	854	156	163	SUCCESS
XPO5	57510	.	GRCh37	6	43492327	43492327	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	46	104	0	ENST00000265351.7:c.3359A>T	p.Glu1120Val	p.E1120V	ENST00000265351	NM_020750.2	1120	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS47430.1	3359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTTCAGGG	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Superfamily_domains:SSF48371	.	.	ENSP00000265351	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious(0)	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,missense_variant,p.Glu1120Val,ENST00000265351,;XPO5,missense_variant,p.Glu235Val,ENST00000455285,;POLR1C,intron_variant,,ENST00000304004,;POLR1C,downstream_gene_variant,,ENST00000372389,;POLR1C,downstream_gene_variant,,ENST00000372344,;POLR1C,downstream_gene_variant,,ENST00000423780,;POLR1C,downstream_gene_variant,,ENST00000428025,;RP3-337H4.9,upstream_gene_variant,,ENST00000607571,;XPO5,3_prime_UTR_variant,,ENST00000486936,;XPO5,non_coding_transcript_exon_variant,,ENST00000488195,;XPO5,non_coding_transcript_exon_variant,,ENST00000455854,;XPO5,downstream_gene_variant,,ENST00000398835,;POLR1C,downstream_gene_variant,,ENST00000455605,;XPO5,downstream_gene_variant,,ENST00000450462,;POLR1C,downstream_gene_variant,,ENST00000488601,;POLR1C,downstream_gene_variant,,ENST00000481352,;POLR1C,downstream_gene_variant,,ENST00000512472,;	3570	104	113	SUCCESS
TFAP2B	7021	.	GRCh37	6	50803905	50803905	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	71	0	ENST00000393655.3:c.733A>G	p.Lys245Glu	p.K245E	ENST00000393655	NM_003221.3	245	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4934.2	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGAAGTAC	CODON|p.S244L|c.731C>T|3	.	.	hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812,Pfam_domain:PF03299	.	.	ENSP00000377265	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000393655	Transcript	.	.	ENSG00000008196	11743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.01)	.	AP2B_HUMAN	TFAP2B	HGNC	A8K557_HUMAN	.	UPI000020DE90	SNV	TFAP2B,missense_variant,p.Lys245Glu,ENST00000393655,;TFAP2B,missense_variant,p.Lys254Glu,ENST00000263046,;	902	71	78	SUCCESS
KIAA1009	0	.	GRCh37	6	84870613	84870613	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	47	0	ENST00000403245.3:c.2699C>A	p.Ser900Tyr	p.S900Y	ENST00000403245	NM_014895.2	900	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34494.2	2699	MUTECT|MUSE	.	TCCCAGATTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000385215	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000403245	Transcript	.	.	ENSG00000135315	21107	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.691)	.	deleterious(0)	.	CE162_HUMAN	KIAA1009	HGNC	B3KN48_HUMAN	.	UPI0001533DAA	SNV	KIAA1009,missense_variant,p.Ser900Tyr,ENST00000403245,;KIAA1009,missense_variant,p.Ser824Tyr,ENST00000257766,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000461137,;	2814	47	47	SUCCESS
LAMB4	22798	.	GRCh37	7	107732077	107732077	+	synonymous_variant	Silent	SNP	C	C	T	rs113064388	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	135	0	ENST00000205386.4:c.1695G>A	p.Ala565=	p.A565=	ENST00000205386		565	gcG/gcA	0	T:0.0016	T:0.0015	.	T:0	.	T	A	protein_coding	YES	CCDS34732.1	1695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGCGCCAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51116,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,SMART_domains:SM00180	T:0	T:0	ENSP00000373433	T:0	14/34	.	.	.	.	.	.	.	.	rs113064388	14/34	PASS	ENST00000388781	Transcript	.	T:0.0006	ENSG00000091128	6491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	SNV	LAMB4,synonymous_variant,p.%3D,ENST00000388781,;LAMB4,synonymous_variant,p.%3D,ENST00000414450,;LAMB4,synonymous_variant,p.%3D,ENST00000418464,;LAMB4,synonymous_variant,p.%3D,ENST00000388780,;LAMB4,synonymous_variant,p.%3D,ENST00000205386,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	1779	135	147	SUCCESS
CPA4	51200	.	GRCh37	7	129962512	129962512	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs376985428	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	68	0	ENST00000222482.4:c.1262A>T	p.Tyr421Phe	p.Y421F	ENST00000222482	NM_016352.3	421	tAc/tTc	0	C:0.0002	.	.	.	.	T	Y/F	protein_coding	YES	CCDS5818.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTACTAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF52	.	C:0	ENSP00000222482	.	11/11	.	.	.	.	.	.	.	.	rs376985428	11/11	PASS	ENST00000222482	Transcript	.	.	ENSG00000128510	15740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0.01)	.	CBPA4_HUMAN	CPA4	HGNC	C9J7D6_HUMAN,B7Z5J4_HUMAN,A4D1M3_HUMAN	.	UPI0000048F00	SNV	CPA4,missense_variant,p.Tyr388Phe,ENST00000445470,;CPA4,missense_variant,p.Tyr421Phe,ENST00000222482,;CPA4,missense_variant,p.Tyr317Phe,ENST00000493259,;snoU13,downstream_gene_variant,,ENST00000459210,;	1290	68	58	SUCCESS
CREB3L2	64764	.	GRCh37	7	137567230	137567230	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	68	121	0	ENST00000330387.6:c.1415A>T	p.Asp472Val	p.D472V	ENST00000330387	NM_194071.3	472	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS34760.1	1415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATCCACA	NONE	.	.	.	.	.	ENSP00000329140	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000330387	Transcript	.	.	ENSG00000182158	23720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.06)	.	CR3L2_HUMAN	CREB3L2	HGNC	.	.	UPI0000457614	SNV	CREB3L2,missense_variant,p.Asp472Val,ENST00000330387,;CREB3L2,downstream_gene_variant,,ENST00000456390,;	1767	121	165	SUCCESS
KLRG2	346689	.	GRCh37	7	139168233	139168233	+	synonymous_variant	Silent	SNP	C	C	G	rs1026447413	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	42	0	ENST00000340940.4:c.156G>C	p.Gly52=	p.G52=	ENST00000340940	NM_198508.2	52	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS5854.1	156	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCCCCGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000339356	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000340940	Transcript	.	.	ENSG00000188883	24778	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLRG2_HUMAN	KLRG2	HGNC	.	.	UPI00001C0C37	SNV	KLRG2,synonymous_variant,p.%3D,ENST00000393039,;KLRG2,synonymous_variant,p.%3D,ENST00000340940,;	226	42	58	SUCCESS
ZNF282	8427	.	GRCh37	7	148907790	148907790	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs141109561	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	120	247	0	ENST00000262085.3:c.946A>G	p.Ile316Val	p.I316V	ENST00000262085	NM_003575.2	316	Att/Gtt	0	G:0.0002	.	.	.	.	G	I/V	protein_coding	YES	CCDS5895.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCATTACC	NONE	byCluster	.	hmmpanther:PTHR24375:SF21,hmmpanther:PTHR24375	.	G:0	ENSP00000262085	.	5/8	.	.	.	.	.	.	.	.	rs141109561	5/8	PASS	ENST00000262085	Transcript	.	.	ENSG00000170265	13076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.38)	.	ZN282_HUMAN	ZNF282	HGNC	Q86YG2_HUMAN	.	UPI000013D255	SNV	ZNF282,missense_variant,p.Ile316Val,ENST00000479907,;ZNF282,missense_variant,p.Ile316Val,ENST00000262085,;ZNF282,upstream_gene_variant,,ENST00000470381,;ZNF282,downstream_gene_variant,,ENST00000462740,;	1051	247	260	SUCCESS
WIPF3	644150	.	GRCh37	7	29874406	29874406	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	72	265	0	ENST00000242140.5:c.66C>G	p.Pro22=	p.P22=	ENST00000242140		22	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS56472.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF31,hmmpanther:PTHR23202	.	.	ENSP00000386878	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000409290	Transcript	.	.	ENSG00000122574	22004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPF3_HUMAN	WIPF3	HGNC	.	.	UPI00006C0B79	SNV	WIPF3,synonymous_variant,p.%3D,ENST00000409290,;WIPF3,synonymous_variant,p.%3D,ENST00000242140,;WIPF3,synonymous_variant,p.%3D,ENST00000409123,;	66	265	301	SUCCESS
POM121L12	285877	.	GRCh37	7	53104142	53104142	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202031574	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	25	0	ENST00000408890.4:c.778G>A	p.Ala260Thr	p.A260T	ENST00000408890	NM_182595.3	260	Gcc/Acc	0	C:0.0017	C:0.0023	.	C:0	.	A	A/T	protein_coding	YES	CCDS43584.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGCCCCA	SITE|p.A260T|c.778G>A|3	byFrequency|byCluster|by1000G	.	.	C:0	C:0	ENSP00000386133	C:0	1/1	.	.	.	.	.	.	.	.	rs202031574,COSM1090729	1/1	PASS	ENST00000408890	Transcript	.	C:0.0006	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.913)	C:0	tolerated_low_confidence(0.53)	0,1	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Ala260Thr,ENST00000408890,;	794	25	35	SUCCESS
NUDT18	79873	.	GRCh37	8	21965221	21965221	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs554932005	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	87	0	ENST00000309188.6:c.562G>A	p.Val188Ile	p.V188I	ENST00000309188	NM_024815.3	188	Gtc/Atc	0	.	G:0	.	G:0	.	T	V/I	protein_coding	YES	.	562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACCAGAT	NONE	by1000G	.	hmmpanther:PTHR22769,hmmpanther:PTHR22769:SF16	G:0.001	.	ENSP00000307852	G:0	5/5	.	.	.	.	.	.	.	.	rs554932005	5/5	PASS	ENST00000309188	Transcript	.	G:0.0002	ENSG00000173566	26194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	G:0	tolerated(0.35)	.	NUD18_HUMAN	NUDT18	HGNC	E5RJJ3_HUMAN	.	UPI0000074169	SNV	NUDT18,missense_variant,p.Val224Ile,ENST00000522379,;NUDT18,missense_variant,p.Val188Ile,ENST00000309188,;NUDT18,missense_variant,p.Val111Ile,ENST00000522405,;NUDT18,3_prime_UTR_variant,,ENST00000521807,;FAM160B2,downstream_gene_variant,,ENST00000289921,;FAM160B2,downstream_gene_variant,,ENST00000523633,;FAM160B2,downstream_gene_variant,,ENST00000450006,;FAM160B2,downstream_gene_variant,,ENST00000496599,;AC091171.1,downstream_gene_variant,,ENST00000436711,;	681	87	24	SUCCESS
SULF1	23213	.	GRCh37	8	70536387	70536387	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1012374804	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	294	116	310	1	ENST00000260128.4:c.1805G>A	p.Ser602Asn	p.S602N	ENST00000260128	NM_015170.2	602	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS6204.1	1805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGCAGCA	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Pfam_domain:PF12548,PIRSF_domain:PIRSF036665	.	.	ENSP00000260128	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000260128	Transcript	.	.	ENSG00000137573	20391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.53)	.	SULF1_HUMAN	SULF1	HGNC	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN	.	UPI000003FD82	SNV	SULF1,missense_variant,p.Ser602Asn,ENST00000260128,;SULF1,missense_variant,p.Ser602Asn,ENST00000402687,;SULF1,missense_variant,p.Ser602Asn,ENST00000419716,;SULF1,missense_variant,p.Ser602Asn,ENST00000458141,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,upstream_gene_variant,,ENST00000524731,;SULF1,upstream_gene_variant,,ENST00000531512,;	2522	311	411	SUCCESS
EYA1	2138	.	GRCh37	8	72182014	72182014	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	29	86	0	ENST00000340726.3:c.1011C>T	p.His337=	p.H337=	ENST00000340726	NM_000503.4	337	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS34906.1	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGTGGAA	NONE	.	.	TIGRFAM_domain:TIGR01658,hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,synonymous_variant,p.%3D,ENST00000388741,;EYA1,synonymous_variant,p.%3D,ENST00000419131,;EYA1,synonymous_variant,p.%3D,ENST00000388742,;EYA1,synonymous_variant,p.%3D,ENST00000340726,;EYA1,synonymous_variant,p.%3D,ENST00000388740,;EYA1,synonymous_variant,p.%3D,ENST00000388743,;EYA1,synonymous_variant,p.%3D,ENST00000303824,;EYA1,3_prime_UTR_variant,,ENST00000465115,;EYA1,5_prime_UTR_variant,,ENST00000493349,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	1651	86	124	SUCCESS
NCBP1	4686	.	GRCh37	9	100423350	100423375	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGTAAGTGGAATTCAGTATTTCTTAA	GGTAAGTGGAATTCAGTATTTCTTAA	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	GGTAAGTGGAATTCAGTATTTCTTAA	GGTAAGTGGAATTCAGTATTTCTTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	38	0	ENST00000375147.3:c.1600+1_1600+26del		p.X534_splice	ENST00000375147	NM_002486.4	534		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6728.1	1600-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GACGACGGTAAGTGGAATTCAGTATTTCTTAAGTGGA	NONE	.	.	.	.	.	ENSP00000364289	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000375147	Transcript	.	.	ENSG00000136937	7658	1	.	HIGH	16/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCBP1_HUMAN	NCBP1	HGNC	.	.	UPI0000112754	deletion	NCBP1,splice_donor_variant,,ENST00000375147,;	1856-?	38	41	SUCCESS
MVB12B	89853	.	GRCh37	9	129148868	129148868	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1351848910	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	46	0	ENST00000361171.3:c.340A>G	p.Met114Val	p.M114V	ENST00000361171	NM_033446.2	114	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS35142.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATATGAAG	NONE	.	.	PROSITE_profiles:PS51498,hmmpanther:PTHR31547:SF1,hmmpanther:PTHR31547,Pfam_domain:PF10240	.	.	ENSP00000354772	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000361171	Transcript	.	.	ENSG00000196814	23368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	tolerated(0.16)	.	MB12B_HUMAN	MVB12B	HGNC	Q9H7N7_HUMAN	.	UPI00001C1EBC	SNV	MVB12B,missense_variant,p.Met99Val,ENST00000402437,;MVB12B,missense_variant,p.Met107Val,ENST00000535766,;MVB12B,missense_variant,p.Met99Val,ENST00000436593,;MVB12B,missense_variant,p.Met114Val,ENST00000545391,;MVB12B,missense_variant,p.Met114Val,ENST00000361171,;MVB12B,non_coding_transcript_exon_variant,,ENST00000489637,;	421	46	53	SUCCESS
RALGDS	5900	.	GRCh37	9	135985072	135985072	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	82	0	ENST00000372050.3:c.525A>G	p.Arg175=	p.R175=	ENST00000372050	NM_006266.3	175	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS6959.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTATCTAGA	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000361120	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000372050	Transcript	.	.	ENSG00000160271	9842	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNDS_HUMAN	RALGDS	HGNC	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN	.	UPI000012B8BC	SNV	RALGDS,synonymous_variant,p.%3D,ENST00000372050,;RALGDS,synonymous_variant,p.%3D,ENST00000393160,;RALGDS,synonymous_variant,p.%3D,ENST00000393157,;RALGDS,synonymous_variant,p.%3D,ENST00000372047,;RALGDS,synonymous_variant,p.%3D,ENST00000372062,;RALGDS,synonymous_variant,p.%3D,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000424572,;RALGDS,splice_region_variant,,ENST00000493438,;RALGDS,upstream_gene_variant,,ENST00000469972,;RALGDS,upstream_gene_variant,,ENST00000482648,;RALGDS,upstream_gene_variant,,ENST00000460587,;	547	82	84	SUCCESS
KCNT1	57582	.	GRCh37	9	138660742	138660742	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750267867	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	37	0	ENST00000488444.2:c.1412A>G	p.Gln471Arg	p.Q471R	ENST00000488444		471	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS35175.2	1469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCAGATCC	NONE	.	.	Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	15/31	.	.	.	.	.	.	.	.	rs750267867	15/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Gln451Arg,ENST00000486577,;KCNT1,missense_variant,p.Gln471Arg,ENST00000490355,;KCNT1,missense_variant,p.Gln471Arg,ENST00000263604,;KCNT1,missense_variant,p.Gln457Arg,ENST00000491806,;KCNT1,missense_variant,p.Gln490Arg,ENST00000298480,;KCNT1,missense_variant,p.Gln445Arg,ENST00000487664,;KCNT1,missense_variant,p.Gln490Arg,ENST00000371757,;KCNT1,missense_variant,p.Gln471Arg,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	1536	37	31	SUCCESS
SHB	6461	.	GRCh37	9	38068423	38068428	+	inframe_deletion	In_Frame_Del	DEL	TGTCGT	TGTCGT	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	TGTCGT	TGTCGT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	76	0	ENST00000377707.3:c.215_220del	p.Asp72_Ser74delinsGly	p.D72_S74delinsG	ENST00000377707	NM_003028.2	72	gACGACAgc/ggc	0	.	.	.	.	.	-	DDS/G	protein_coding	YES	CCDS43806.1	215-220	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCGCTGTCGTCGGGC	NONE	.	.	hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF31	.	.	ENSP00000366936	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000377707	Transcript	.	.	ENSG00000107338	10838	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHB_HUMAN	SHB	HGNC	.	.	UPI000021143B	deletion	SHB,inframe_deletion,p.Asp72_Ser74delinsGly,ENST00000377700,;SHB,inframe_deletion,p.Asp72_Ser74delinsGly,ENST00000377707,;RP11-613M10.9,inframe_deletion,p.Asp72_Ser74delinsGly,ENST00000540557,;	781-786	76	68	SUCCESS
KIAA2026	158358	.	GRCh37	9	5921873	5921873	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1179501803	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	42	76	0	ENST00000399933.3:c.4123C>T	p.His1375Tyr	p.H1375Y	ENST00000399933	NM_001017969.2	1375	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	.	4123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTGGCCTA	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious(0.01)	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,missense_variant,p.His1345Tyr,ENST00000381461,;KIAA2026,missense_variant,p.His1375Tyr,ENST00000399933,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	4123	76	50	SUCCESS
MAGEC3	139081	.	GRCh37	X	140984732	140984732	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	37	47	0	ENST00000298296.1:c.1188C>A	p.Pro396=	p.P396=	ENST00000298296	NM_138702.1	396	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14676.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCCAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47	.	.	ENSP00000298296	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,synonymous_variant,p.%3D,ENST00000298296,;MAGEC3,synonymous_variant,p.%3D,ENST00000544766,;MAGEC3,synonymous_variant,p.%3D,ENST00000409007,;MAGEC3,synonymous_variant,p.%3D,ENST00000443323,;MAGEC3,synonymous_variant,p.%3D,ENST00000536088,;MAGEC3,downstream_gene_variant,,ENST00000448920,;MAGEC3,non_coding_transcript_exon_variant,,ENST00000483584,;	1188	47	42	SUCCESS
MAGEC1	9947	.	GRCh37	X	140994996	140994996	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	94	0	ENST00000285879.4:c.1806G>T	p.Gly602=	p.G602=	ENST00000285879	NM_005462.4	602	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS35417.1	1806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGGAGGA	NONE	.	.	hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736	.	.	ENSP00000285879	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000285879	Transcript	.	.	ENSG00000155495	6812	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGC1_HUMAN	MAGEC1	HGNC	A0PK03_HUMAN	.	UPI000006F2FD	SNV	MAGEC1,synonymous_variant,p.%3D,ENST00000285879,;MAGEC1,intron_variant,,ENST00000406005,;	2092	94	95	SUCCESS
MIR514A2	574517	.	GRCh37	X	146363544	146363544	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	96	335	0	ENST00000385131.1:n.5T>C		p.*2*	ENST00000385131				0	.	.	.	.	.	G	.	miRNA	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGACAACA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385131	Transcript	.	.	ENSG00000207866	32149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MIR514A2	HGNC	.	.	.	SNV	MIR514A2,non_coding_transcript_exon_variant,,ENST00000385131,;MIR514A3,downstream_gene_variant,,ENST00000385132,;MIR514A1,upstream_gene_variant,,ENST00000385133,;	5	335	333	SUCCESS
PLXNA3	55558	.	GRCh37	X	153688716	153688716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	51	0	ENST00000369682.3:c.193G>A	p.Ala65Thr	p.A65T	ENST00000369682	NM_017514.3	65	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14752.1	193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGGCCCAT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000358696	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.41)	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,missense_variant,p.Ala65Thr,ENST00000369682,;PLXNA3,intron_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000482598,;	368	51	43	SUCCESS
UBA1	7317	.	GRCh37	X	47065414	47065414	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	48	113	0	ENST00000335972.6:c.1643A>G	p.His548Arg	p.H548R	ENST00000335972	NM_003334.3	548	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14275.1	1643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCACCAGA	NONE	.	.	hmmpanther:PTHR10953:SF136,hmmpanther:PTHR10953,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572,Prints_domain:PR01849	.	.	ENSP00000338413	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000335972	Transcript	.	.	ENSG00000130985	12469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.23)	.	UBA1_HUMAN	UBA1	HGNC	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN	.	UPI0000137946	SNV	UBA1,missense_variant,p.His548Arg,ENST00000335972,;UBA1,missense_variant,p.His548Arg,ENST00000377351,;UBA1,upstream_gene_variant,,ENST00000377269,;UBA1,downstream_gene_variant,,ENST00000442035,;UBA1,downstream_gene_variant,,ENST00000412206,;INE1,downstream_gene_variant,,ENST00000456273,;UBA1,intron_variant,,ENST00000490869,;	1826	113	105	SUCCESS
KIAA2022	0	.	GRCh37	X	73963416	73963416	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	65	97	1	ENST00000055682.6:c.976A>G	p.Thr326Ala	p.T326A	ENST00000055682	NM_001008537.2	326	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS35337.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGTAGTCT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	deleterious(0.03)	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,missense_variant,p.Thr326Ala,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	1588	98	76	SUCCESS
DUSP5	1847	.	GRCh37	10	112258097	112258097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	18	0	ENST00000369583.3:c.218C>A	p.Ala73Glu	p.A73E	ENST00000369583	NM_004419.3	73	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS7566.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGCGCGGC	NONE	.	.	Superfamily_domains:SSF52821,SMART_domains:SM00450,PIRSF_domain:PIRSF000939,Gene3D:3.40.250.10,Pfam_domain:PF00581,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF40,PROSITE_profiles:PS50206	.	.	ENSP00000358596	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369583	Transcript	.	.	ENSG00000138166	3071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.26)	.	DUS5_HUMAN	DUSP5	HGNC	.	.	UPI000013D0FF	SNV	DUSP5,missense_variant,p.Ala73Glu,ENST00000369583,;RP11-525A16.4,upstream_gene_variant,,ENST00000607952,;RP11-525A16.4,upstream_gene_variant,,ENST00000609514,;DUSP5,upstream_gene_variant,,ENST00000468749,;	502	18	22	SUCCESS
GPR158	57512	.	GRCh37	10	25839939	25839939	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140275752	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	74	0	ENST00000376351.3:c.1439G>A	p.Arg480His	p.R480H	ENST00000376351	NM_020752.2	480	cGc/cAc	0	A:0.0009	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS31166.1	1439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCGCTGTA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003	A:0	A:0	ENSP00000365529	A:0	6/11	.	.	.	.	.	.	.	.	rs140275752	6/11	PASS	ENST00000376351	Transcript	.	A:0.0002	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	A:0	deleterious(0)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Arg480His,ENST00000376351,;	1798	74	86	SUCCESS
DDX50	79009	.	GRCh37	10	70673827	70673827	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs202146235	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	63	139	0	ENST00000373585.3:c.956A>G	p.Asn319Ser	p.N319S	ENST00000373585	NM_024045.1	319	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7283.1	956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAATCCTC	NONE	byCluster	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000362687	.	7/15	.	.	.	.	.	.	.	.	rs202146235	7/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.06)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Asn319Ser,ENST00000373585,;RNU6-571P,upstream_gene_variant,,ENST00000384128,;DDX50,non_coding_transcript_exon_variant,,ENST00000460470,;DDX50,downstream_gene_variant,,ENST00000471475,;DDX50,downstream_gene_variant,,ENST00000483593,;	1063	139	88	SUCCESS
KAT6B	23522	.	GRCh37	10	76602576	76602577	+	5_prime_UTR_variant	5'UTR	INS	-	-	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	45	0	ENST00000287239.4:c.-39dup		p.*13*	ENST00000287239	NM_001256468.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7345.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCTCTATGG	NONE	.	.	.	.	.	ENSP00000287239	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	insertion	KAT6B,5_prime_UTR_variant,,ENST00000372711,;KAT6B,5_prime_UTR_variant,,ENST00000372714,;KAT6B,5_prime_UTR_variant,,ENST00000372725,;KAT6B,5_prime_UTR_variant,,ENST00000372724,;KAT6B,5_prime_UTR_variant,,ENST00000287239,;KAT6B,non_coding_transcript_exon_variant,,ENST00000604130,;	450-451	45	44	SUCCESS
MUC6	4588	.	GRCh37	11	1028253	1028253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	29	133	0	ENST00000421673.2:c.1726G>T	p.Asp576Tyr	p.D576Y	ENST00000421673	NM_005961.2	576	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS44513.1	1726	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCAGTCT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,PROSITE_profiles:PS51233	.	.	ENSP00000406861	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Asp576Tyr,ENST00000421673,;MUC6,downstream_gene_variant,,ENST00000525923,;	1777	133	234	SUCCESS
MUC6	4588	.	GRCh37	11	1028287	1028287	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	39	156	0	ENST00000421673.2:c.1692G>C	p.Ala564=	p.A564=	ENST00000421673	NM_005961.2	564	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS44513.1	1692	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCGCCCG	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,PROSITE_profiles:PS51233	.	.	ENSP00000406861	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,synonymous_variant,p.%3D,ENST00000421673,;MUC6,downstream_gene_variant,,ENST00000525923,;	1743	156	251	SUCCESS
MUC5B	727897	.	GRCh37	11	1247915	1247915	+	synonymous_variant	Silent	SNP	C	C	T	rs377569377	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	73	0	ENST00000529681.1:c.270C>T	p.Gly90=	p.G90=	ENST00000529681	NM_002458.2	90	ggC/ggT	0	T:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS44515.2	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGCGACGT	NONE	byCluster	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF00094,SMART_domains:SM00216	.	T:0	ENSP00000436812	.	4/49	.	.	.	.	.	.	.	.	rs377569377	4/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000531082,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	328	73	102	SUCCESS
RPUSD4	84881	.	GRCh37	11	126075666	126075666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	33	0	ENST00000298317.4:c.568G>T	p.Val190Leu	p.V190L	ENST00000298317	NM_032795.2	190	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS8469.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCACAGTGA	NONE	.	.	hmmpanther:PTHR10436,hmmpanther:PTHR10436:SF48,Pfam_domain:PF00849,Superfamily_domains:SSF55120	.	.	ENSP00000298317	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000298317	Transcript	.	.	ENSG00000165526	25898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.17)	.	RUSD4_HUMAN	RPUSD4	HGNC	B4DUN4_HUMAN	.	UPI0000071274	SNV	RPUSD4,missense_variant,p.Val190Leu,ENST00000533628,;RPUSD4,missense_variant,p.Val190Leu,ENST00000298317,;RPUSD4,intron_variant,,ENST00000532674,;RP11-50B3.4,downstream_gene_variant,,ENST00000532866,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000530036,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000534393,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000530903,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000526942,;RPUSD4,downstream_gene_variant,,ENST00000532800,;RPUSD4,downstream_gene_variant,,ENST00000525812,;	622	33	54	SUCCESS
TIRAP	114609	.	GRCh37	11	126162928	126162935	+	frameshift_variant	Frame_Shift_Del	DEL	AGTCAAAG	AGTCAAAG	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	AGTCAAAG	AGTCAAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	56	0	ENST00000392679.1:c.624_631delinsC	p.Gln208HisfsTer25	p.Q208Hfs*25	ENST00000392679		208	caAGTCAAAGaa/caCaa	0	.	.	.	.	.	C	QVKE/HX	protein_coding	YES	CCDS41731.1	624-631	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGTCAAGTCAAAGAAGCT	NONE	.	.	hmmpanther:PTHR22662:SF0,hmmpanther:PTHR22662,PIRSF_domain:PIRSF037750,Superfamily_domains:SSF52200	.	.	ENSP00000376445	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392678	Transcript	.	.	ENSG00000150455	17192	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIRAP_HUMAN	TIRAP	HGNC	.	.	UPI0000136FBA	substitution	TIRAP,frameshift_variant,p.Gln208HisfsTer25,ENST00000392680,;TIRAP,frameshift_variant,p.Gln208HisfsTer29,ENST00000392678,;TIRAP,frameshift_variant,p.Gln208HisfsTer25,ENST00000392679,;RP11-712L6.5,downstream_gene_variant,,ENST00000524964,;RP11-712L6.7,non_coding_transcript_exon_variant,,ENST00000533378,;TIRAP,downstream_gene_variant,,ENST00000467006,;RP11-712L6.5,downstream_gene_variant,,ENST00000528876,;TIRAP,downstream_gene_variant,,ENST00000462401,;TIRAP,frameshift_variant,p.Gln208HisfsTer25,ENST00000479770,;TIRAP,downstream_gene_variant,,ENST00000488598,;	1053-1060	56	56	SUCCESS
OTOG	340990	.	GRCh37	11	17632533	17632533	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	34	83	0	ENST00000399391.2:c.5722T>A	p.Ser1908Thr	p.S1908T	ENST00000399391	NM_001277269.1	1908	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS59225.1	5722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCTCCATG	NONE	.	.	hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339	.	.	ENSP00000382323	.	35/55	.	.	.	.	.	.	.	.	.	35/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,missense_variant,p.Ser1835Thr,ENST00000399397,;OTOG,missense_variant,p.Ser914Thr,ENST00000342528,;OTOG,missense_variant,p.Ser1908Thr,ENST00000399391,;	5722	83	147	SUCCESS
UEVLD	55293	.	GRCh37	11	18596904	18596904	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	411	115	259	0	ENST00000396197.3:c.183G>T	p.Val61=	p.V61=	ENST00000396197	NM_001040697.2	61	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS41624.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATCACAGG	NONE	.	.	PROSITE_profiles:PS51322,hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18,Pfam_domain:PF05743,Gene3D:3.10.110.10,Superfamily_domains:SSF54495	.	.	ENSP00000379500	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000396197	Transcript	.	.	ENSG00000151116	30866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UEVLD_HUMAN	UEVLD	HGNC	B4DWH4_HUMAN,B4DIA9_HUMAN	.	UPI00001AF2D2	SNV	UEVLD,synonymous_variant,p.%3D,ENST00000541984,;UEVLD,synonymous_variant,p.%3D,ENST00000535484,;UEVLD,synonymous_variant,p.%3D,ENST00000300038,;UEVLD,synonymous_variant,p.%3D,ENST00000396197,;UEVLD,synonymous_variant,p.%3D,ENST00000543987,;UEVLD,intron_variant,,ENST00000379387,;UEVLD,intron_variant,,ENST00000320750,;UEVLD,non_coding_transcript_exon_variant,,ENST00000490736,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540917,;UEVLD,synonymous_variant,p.%3D,ENST00000396196,;UEVLD,non_coding_transcript_exon_variant,,ENST00000535340,;	212	259	526	SUCCESS
OR5T2	219464	.	GRCh37	11	55999712	55999712	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	84	0	ENST00000313264.4:c.950A>G	p.Tyr317Cys	p.Y317C	ENST00000313264	NM_001004746.1	317	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS31523.1	950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTAAAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0.01)	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,missense_variant,p.Tyr317Cys,ENST00000313264,;	1026	84	89	SUCCESS
CLCF1	23529	.	GRCh37	11	67135046	67135046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	41	0	ENST00000312438.7:c.68C>T	p.Pro23Leu	p.P23L	ENST00000312438	NM_013246.2	23	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31617.1	68	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGGGAGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR21353:SF7,hmmpanther:PTHR21353	.	.	ENSP00000309338	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000312438	Transcript	.	.	ENSG00000175505	17412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	deleterious(0.01)	.	CLCF1_HUMAN	CLCF1	HGNC	.	.	UPI000003F7F1	SNV	CLCF1,missense_variant,p.Pro23Leu,ENST00000312438,;CLCF1,missense_variant,p.Pro13Leu,ENST00000528474,;CLCF1,missense_variant,p.Pro13Leu,ENST00000533438,;RN7SKP239,downstream_gene_variant,,ENST00000364814,;AP003419.11,intron_variant,,ENST00000543494,;	266	41	54	SUCCESS
OR2AG2	338755	.	GRCh37	11	6789895	6789895	+	synonymous_variant	Silent	SNP	T	T	G	rs774830048	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	22	96	0	ENST00000338569.2:c.294A>C	p.Ala98=	p.A98=	ENST00000338569	NM_001004490.1	98	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS31413.1	294	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGTGCACA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF107,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000342697	.	1/1	.	.	.	.	.	.	.	.	rs774830048	1/1	PASS	ENST00000338569	Transcript	.	.	ENSG00000188124	15143	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O2AG2_HUMAN	OR2AG2	HGNC	.	.	UPI0000041C10	SNV	OR2AG2,synonymous_variant,p.%3D,ENST00000338569,;	392	96	229	SUCCESS
FBXW8	26259	.	GRCh37	12	117383227	117383227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	71	0	ENST00000309909.5:c.482A>T	p.Gln161Leu	p.Q161L	ENST00000309909		161	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS9182.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGCAGG	NONE	.	.	hmmpanther:PTHR22844:SF157,hmmpanther:PTHR22844,Pfam_domain:PF12937,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	.	.	ENSP00000310686	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000309909	Transcript	.	.	ENSG00000174989	13597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.18)	.	FBXW8_HUMAN	FBXW8	HGNC	.	.	UPI000019AB72	SNV	FBXW8,missense_variant,p.Gln95Leu,ENST00000455858,;FBXW8,missense_variant,p.Gln161Leu,ENST00000309909,;	564	71	74	SUCCESS
SRRM4	84530	.	GRCh37	12	119568605	119568605	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	18	0	ENST00000267260.4:c.737T>A	p.Leu246His	p.L246H	ENST00000267260	NM_194286.3	246	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS44994.1	737	MUTECT|MUSE	.	ACCCCTCCAGA	NONE	.	.	.	.	.	ENSP00000267260	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	deleterious_low_confidence(0)	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Leu246His,ENST00000267260,;SRRM4,non_coding_transcript_exon_variant,,ENST00000537597,;SRRM4,downstream_gene_variant,,ENST00000545224,;	1125	18	27	SUCCESS
TMEM132D	121256	.	GRCh37	12	129566302	129566302	+	splice_donor_variant	Splice_Site	SNP	A	A	G	rs750127903	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	50	0	ENST00000422113.2:c.1923+2T>C		p.X641_splice	ENST00000422113	NM_133448.2	641		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9266.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTTTTACCTGA	NONE	byFrequency	.	.	.	.	ENSP00000408581	.	.	.	.	.	.	.	.	.	.	rs750127903	.	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	HIGH	7/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,splice_donor_variant,,ENST00000422113,;TMEM132D,splice_donor_variant,,ENST00000389441,;	.	51	74	SUCCESS
CELA1	1990	.	GRCh37	12	51723540	51723540	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778999971	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	48	0	ENST00000293636.1:c.687C>A	p.Ser229Arg	p.S229R	ENST00000293636	NM_001971.5	229	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS8812.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGCTGGA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF0,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000293636	.	7/8	.	.	.	.	.	.	.	.	rs778999971,COSM3398798	7/8	PASS	ENST00000293636	Transcript	.	.	ENSG00000139610	3308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.093)	.	deleterious(0.04)	0,1	CELA1_HUMAN	CELA1	HGNC	Q14237_HUMAN	.	UPI000013E111	SNV	CELA1,missense_variant,p.Ser229Arg,ENST00000293636,;	728	48	55	SUCCESS
MFSD5	84975	.	GRCh37	12	53647163	53647163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	38	0	ENST00000329548.4:c.544G>T	p.Ala182Ser	p.A182S	ENST00000329548	NM_032889.4	182	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS53796.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGCTGTA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24003:SF500,hmmpanther:PTHR24003,Gene3D:1.20.1250.20,Pfam_domain:PF05631,Superfamily_domains:SSF103473	.	.	ENSP00000442688	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000534842	Transcript	.	.	ENSG00000182544	28156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	tolerated(0.07)	.	MFSD5_HUMAN	MFSD5	HGNC	F8VV69_HUMAN	.	UPI0000EE2648	SNV	MFSD5,missense_variant,p.Ala182Ser,ENST00000329548,;MFSD5,missense_variant,p.Ala289Ser,ENST00000534842,;MFSD5,missense_variant,p.Ala289Ser,ENST00000551660,;MFSD5,downstream_gene_variant,,ENST00000546655,;MFSD5,downstream_gene_variant,,ENST00000552097,;	1012	38	40	SUCCESS
MUCL1	118430	.	GRCh37	12	55248916	55248916	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	80	0	ENST00000308796.6:c.75T>A	p.Ala25=	p.A25=	ENST00000308796	NM_058173.2	25	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8885.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGCTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000311364	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000308796	Transcript	.	.	ENSG00000172551	30588	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUCL1_HUMAN	MUCL1	HGNC	.	.	UPI0000041AA1	SNV	MUCL1,synonymous_variant,p.%3D,ENST00000546809,;MUCL1,synonymous_variant,p.%3D,ENST00000308796,;MUCL1,non_coding_transcript_exon_variant,,ENST00000547990,;MUCL1,non_coding_transcript_exon_variant,,ENST00000547958,;	121	80	83	SUCCESS
WIBG	0	.	GRCh37	12	56295772	56295772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	51	1	ENST00000408946.2:c.499C>A	p.Leu167Met	p.L167M	ENST00000408946	NM_032345.2	167	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS41795.1	499	MUTECT|MUSE	.	CTGCAGCTCTT	NONE	.	.	hmmpanther:PTHR22959,hmmpanther:PTHR22959:SF0,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000386156	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000408946	Transcript	.	.	ENSG00000170473	30258	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	WIBG_HUMAN	WIBG	HGNC	.	.	UPI0000071DF3	SNV	WIBG,missense_variant,p.Leu166Met,ENST00000398213,;WIBG,missense_variant,p.Leu167Met,ENST00000408946,;WIBG,3_prime_UTR_variant,,ENST00000557259,;WIBG,downstream_gene_variant,,ENST00000547925,;WIBG,non_coding_transcript_exon_variant,,ENST00000302533,;GSTP1P1,downstream_gene_variant,,ENST00000548078,;	651	52	58	SUCCESS
LEMD3	23592	.	GRCh37	12	65563653	65563653	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	422	278	676	1	ENST00000308330.2:c.277C>T	p.Pro93Ser	p.P93S	ENST00000308330	NM_014319.4	93	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8972.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGCCGGTC	NONE	.	.	hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428	.	.	ENSP00000308369	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000308330	Transcript	.	.	ENSG00000174106	28887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.01)	.	MAN1_HUMAN	LEMD3	HGNC	B4DI45_HUMAN	.	UPI000012EB75	SNV	LEMD3,missense_variant,p.Pro93Ser,ENST00000308330,;LEMD3,non_coding_transcript_exon_variant,,ENST00000541171,;	303	677	700	SUCCESS
PTPRB	5787	.	GRCh37	12	70953387	70953387	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	109	0	ENST00000261266.5:c.3796C>G	p.Leu1266Val	p.L1266V	ENST00000261266	NM_002837.4	1266	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS44943.1	4450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAGACTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.56)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Leu1176Val,ENST00000538708,;PTPRB,missense_variant,p.Leu1396Val,ENST00000550358,;PTPRB,missense_variant,p.Leu1483Val,ENST00000551525,;PTPRB,missense_variant,p.Leu1266Val,ENST00000261266,;PTPRB,missense_variant,p.Leu1176Val,ENST00000451516,;PTPRB,missense_variant,p.Leu1363Val,ENST00000548122,;PTPRB,missense_variant,p.Leu1176Val,ENST00000550857,;PTPRB,missense_variant,p.Leu1484Val,ENST00000334414,;	4495	109	103	SUCCESS
POSTN	10631	.	GRCh37	13	38154710	38154710	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748518149	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	65	0	ENST00000379747.4:c.1517A>G	p.Asp506Gly	p.D506G	ENST00000379747	NM_006475.2	506	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9364.1	1517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTATCTTGT	BUFFER|p.R508C|c.1522C>T|3	.	.	Superfamily_domains:SSF82153,PIRSF_domain:PIRSF016553,Gene3D:2.30.180.10,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	11/23	.	.	.	.	.	.	.	.	rs748518149	11/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	SNV	POSTN,missense_variant,p.Asp506Gly,ENST00000379747,;POSTN,missense_variant,p.Asp506Gly,ENST00000379749,;POSTN,missense_variant,p.Asp506Gly,ENST00000541481,;POSTN,missense_variant,p.Asp506Gly,ENST00000379743,;POSTN,missense_variant,p.Asp506Gly,ENST00000541179,;POSTN,missense_variant,p.Asp506Gly,ENST00000379742,;	1635	65	74	SUCCESS
IPO4	79711	.	GRCh37	14	24653203	24653203	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	38	0	ENST00000354464.6:c.1869+1G>C		p.X623_splice	ENST00000354464	NM_024658.3	623		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9616.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACCACAA	NONE	.	.	.	.	.	ENSP00000346453	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354464	Transcript	.	.	ENSG00000196497	19426	.	.	HIGH	18/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO4_HUMAN	IPO4	HGNC	Q6I9Y8_HUMAN,D3DS63_HUMAN	.	UPI000013CCB3	SNV	IPO4,splice_donor_variant,,ENST00000354464,;IPO4,splice_donor_variant,,ENST00000561462,;IPO4,upstream_gene_variant,,ENST00000558233,;REC8,downstream_gene_variant,,ENST00000311457,;REC8,downstream_gene_variant,,ENST00000559919,;REC8,downstream_gene_variant,,ENST00000559939,;IPO4,splice_donor_variant,,ENST00000560798,;IPO4,splice_donor_variant,,ENST00000561090,;IPO4,splice_donor_variant,,ENST00000561199,;RP11-468E2.2,splice_donor_variant,,ENST00000561419,;IPO4,splice_donor_variant,,ENST00000560155,;IPO4,splice_donor_variant,,ENST00000559588,;IPO4,splice_donor_variant,,ENST00000558046,;IPO4,splice_donor_variant,,ENST00000558780,;IPO4,downstream_gene_variant,,ENST00000558193,;REC8,downstream_gene_variant,,ENST00000559797,;REC8,downstream_gene_variant,,ENST00000557979,;IPO4,downstream_gene_variant,,ENST00000557996,;IPO4,downstream_gene_variant,,ENST00000560315,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,upstream_gene_variant,,ENST00000560935,;REC8,downstream_gene_variant,,ENST00000558191,;IPO4,downstream_gene_variant,,ENST00000561034,;IPO4,downstream_gene_variant,,ENST00000560222,;IPO4,downstream_gene_variant,,ENST00000559635,;IPO4,downstream_gene_variant,,ENST00000559253,;REC8,downstream_gene_variant,,ENST00000558381,;IPO4,downstream_gene_variant,,ENST00000558718,;	.	38	34	SUCCESS
TRAPPC6B	122553	.	GRCh37	14	39623438	39623438	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	50	0	ENST00000330149.5:c.328C>T	p.Gln110Ter	p.Q110*	ENST00000330149	NM_001079537.1	110	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS41947.1	328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGTTTTC	NONE	.	.	hmmpanther:PTHR12817,hmmpanther:PTHR12817:SF1,Gene3D:3.30.1380.20,Pfam_domain:PF04051,Superfamily_domains:SSF111126	.	.	ENSP00000330289	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000330149	Transcript	.	.	ENSG00000182400	23066	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPC6B_HUMAN	TRAPPC6B	HGNC	G3V4C3_HUMAN,B0AZV9_HUMAN	.	UPI000000CC28	SNV	TRAPPC6B,stop_gained,p.Gln110Ter,ENST00000330149,;TRAPPC6B,intron_variant,,ENST00000554018,;TRAPPC6B,intron_variant,,ENST00000347691,;TRAPPC6B,non_coding_transcript_exon_variant,,ENST00000557764,;TRAPPC6B,3_prime_UTR_variant,,ENST00000555269,;TRAPPC6B,non_coding_transcript_exon_variant,,ENST00000469361,;TRAPPC6B,intron_variant,,ENST00000556765,;RPL7AP2,upstream_gene_variant,,ENST00000496515,;	555	50	82	SUCCESS
ATG2B	55102	.	GRCh37	14	96809568	96809568	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	32	92	0	ENST00000359933.4:c.632A>G	p.His211Arg	p.H211R	ENST00000359933	NM_018036.5	211	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS9944.2	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATGCACA	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	deleterious(0.04)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.His211Arg,ENST00000359933,;	1526	92	49	SUCCESS
SPTBN5	51332	.	GRCh37	15	42169321	42169321	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	103	1	ENST00000320955.6:c.3704A>T	p.Asn1235Ile	p.N1235I	ENST00000320955	NM_016642.3	1235	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS61599.1	3704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTTGTCC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150	.	.	ENSP00000317790	.	18/68	.	.	.	.	.	.	.	.	.	18/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Asn1235Ile,ENST00000320955,;	3932	104	118	SUCCESS
PLA2G4E	123745	.	GRCh37	15	42287601	42287601	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	61	0	ENST00000399518.3:c.1204C>T	p.Leu402=	p.L402=	ENST00000399518	NM_001206670.1	402	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55962.1	1204	RADIA|MUTECT|MUSE	.	GTCCAGGAGGT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF24,Gene3D:3.40.1090.10,Pfam_domain:PF01735,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000382434	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000399518	Transcript	.	.	ENSG00000188089	24791	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PLA2G4E	HGNC	B7WPN2_HUMAN	.	UPI0000E59BE5	SNV	PLA2G4E,synonymous_variant,p.%3D,ENST00000399518,;PLA2G4E,synonymous_variant,p.%3D,ENST00000413860,;CTD-2382E5.1,intron_variant,,ENST00000499478,;PLA2G4E,non_coding_transcript_exon_variant,,ENST00000547930,;	1691	61	80	SUCCESS
CEP152	22995	.	GRCh37	15	49033713	49033713	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	42	0	ENST00000380950.2:c.4093+85G>T		p.*1365*	ENST00000380950	NM_001194998.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58361.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTTCCC	NONE	.	.	.	.	.	ENSP00000370337	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	MODIFIER	26/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,3_prime_UTR_variant,,ENST00000325747,;CEP152,intron_variant,,ENST00000380950,;CEP152,intron_variant,,ENST00000399334,;CEP152,intron_variant,,ENST00000561245,;	.	42	39	SUCCESS
CD19	930	.	GRCh37	16	28947906	28947906	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	31	0	ENST00000324662.3:c.1069C>T	p.Pro357Ser	p.P357S	ENST00000324662		357	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS53998.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACCCACC	NONE	.	.	hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1	.	.	ENSP00000437940	.	7/15	.	.	.	.	.	.	.	.	COSM1284011	7/15	PASS	ENST00000538922	Transcript	.	.	ENSG00000177455	1633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	tolerated(0.2)	1	CD19_HUMAN	CD19	HGNC	Q71UW0_HUMAN	.	UPI0000E02929	SNV	CD19,missense_variant,p.Pro357Ser,ENST00000538922,;CD19,missense_variant,p.Pro357Ser,ENST00000324662,;CD19,missense_variant,p.Pro357Ser,ENST00000567541,;RABEP2,upstream_gene_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,downstream_gene_variant,,ENST00000566890,;CD19,upstream_gene_variant,,ENST00000567368,;	1131	31	34	SUCCESS
FAM65A	0	.	GRCh37	16	67575468	67575468	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	39	89	0	ENST00000422602.2:c.997G>A	p.Glu333Lys	p.E333K	ENST00000422602	NM_001193523.1	333	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54026.1	997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGAAGTC	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1	.	.	ENSP00000400099	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000422602	Transcript	.	.	ENSG00000039523	25836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	FA65A_HUMAN	FAM65A	HGNC	H3BQI5_HUMAN,H3BV02_HUMAN,H3BUP6_HUMAN,H3BSV5_HUMAN,H3BS40_HUMAN	.	UPI0001AE68C6	SNV	FAM65A,missense_variant,p.Glu327Lys,ENST00000428437,;FAM65A,missense_variant,p.Glu313Lys,ENST00000566559,;FAM65A,missense_variant,p.Glu276Lys,ENST00000569253,;FAM65A,missense_variant,p.Glu333Lys,ENST00000422602,;FAM65A,missense_variant,p.Glu116Lys,ENST00000569179,;FAM65A,missense_variant,p.Glu333Lys,ENST00000540839,;FAM65A,missense_variant,p.Glu313Lys,ENST00000042381,;FAM65A,missense_variant,p.Glu317Lys,ENST00000379312,;FAM65A,upstream_gene_variant,,ENST00000568959,;FAM65A,downstream_gene_variant,,ENST00000562755,;FAM65A,downstream_gene_variant,,ENST00000566920,;FAM65A,downstream_gene_variant,,ENST00000565176,;FAM65A,downstream_gene_variant,,ENST00000566907,;FAM65A,downstream_gene_variant,,ENST00000562116,;CTD-2012K14.4,downstream_gene_variant,,ENST00000564717,;CTD-2012K14.3,downstream_gene_variant,,ENST00000563083,;CTD-2012K14.2,upstream_gene_variant,,ENST00000567122,;FAM65A,downstream_gene_variant,,ENST00000566522,;FAM65A,3_prime_UTR_variant,,ENST00000566815,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,non_coding_transcript_exon_variant,,ENST00000561534,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569474,;FAM65A,non_coding_transcript_exon_variant,,ENST00000566730,;FAM65A,upstream_gene_variant,,ENST00000565190,;FAM65A,upstream_gene_variant,,ENST00000565679,;FAM65A,upstream_gene_variant,,ENST00000564616,;	1093	89	54	SUCCESS
AKAP10	11216	.	GRCh37	17	19827755	19827755	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	210	61	300	0	ENST00000225737.6:c.1717G>T	p.Asp573Tyr	p.D573Y	ENST00000225737	NM_007202.3	573	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS11214.1	1717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCCAGAC	NONE	.	.	hmmpanther:PTHR13155	.	.	ENSP00000225737	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000225737	Transcript	.	.	ENSG00000108599	368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	AKA10_HUMAN	AKAP10	HGNC	.	.	UPI000006E08E	SNV	AKAP10,missense_variant,p.Asp573Tyr,ENST00000225737,;AKAP10,missense_variant,p.Asp515Tyr,ENST00000395536,;AKAP10,intron_variant,,ENST00000583951,;RP11-209D14.4,downstream_gene_variant,,ENST00000583067,;AKAP10,3_prime_UTR_variant,,ENST00000578898,;	1875	300	271	SUCCESS
TAOK1	57551	.	GRCh37	17	27869796	27869796	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	69	134	0	ENST00000261716.3:c.2762A>G	p.His921Arg	p.H921R	ENST00000261716	NM_020791.2	921	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS32601.1	2762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCACTGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000261716	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000261716	Transcript	.	.	ENSG00000160551	29259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.07)	.	TAOK1_HUMAN	TAOK1	HGNC	J3QS76_HUMAN	.	UPI000004A033	SNV	TAOK1,missense_variant,p.His921Arg,ENST00000261716,;TAOK1,missense_variant,p.His773Arg,ENST00000536202,;	3281	134	158	SUCCESS
KRTAP1-3	81850	.	GRCh37	17	39190968	39190968	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	62	0	ENST00000344363.5:c.106del	p.Gln36SerfsTer67	p.Q36Sfs*67	ENST00000344363	NM_030966.1	36	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS42323.1	106	INDELOCATOR|VARSCANI	.	TTGGCTGGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF45,hmmpanther:PTHR23262,Pfam_domain:PF01500	.	.	ENSP00000344420	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344363	Transcript	.	.	ENSG00000221880	16771	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRA13_HUMAN	KRTAP1-3	HGNC	.	.	UPI000006DC17	deletion	KRTAP1-3,frameshift_variant,p.Gln36SerfsTer67,ENST00000344363,;KRTAP1-4,upstream_gene_variant,,ENST00000377747,;	140	62	76	SUCCESS
KRTAP1-1	81851	.	GRCh37	17	39197544	39197544	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	63	0	ENST00000306271.4:c.106del	p.Gln36SerfsTer77	p.Q36Sfs*77	ENST00000306271	NM_030967.2	36	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS42324.1	106	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCTGGCAGG	BUFFER|p.S34C|c.101C>G|9	.	.	hmmpanther:PTHR23262:SF45,hmmpanther:PTHR23262,Pfam_domain:PF01500	.	.	ENSP00000305975	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306271	Transcript	.	.	ENSG00000188581	16772	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KRA11_HUMAN	KRTAP1-1	HGNC	.	.	UPI000007191A	deletion	KRTAP1-1,frameshift_variant,p.Gln36SerfsTer77,ENST00000306271,;	170	63	62	SUCCESS
HCRT	3060	.	GRCh37	17	40336391	40336391	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	39	0	ENST00000293330.1:c.177C>T	p.His59=	p.H59=	ENST00000293330	NM_001524.1	59	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS11421.1	177	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGTGATT	NONE	.	.	hmmpanther:PTHR15173,hmmpanther:PTHR15173:SF2,Pfam_domain:PF02072,PIRSF_domain:PIRSF037824,Prints_domain:PR01091	.	.	ENSP00000293330	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000293330	Transcript	.	.	ENSG00000161610	4847	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OREX_HUMAN	HCRT	HGNC	.	.	UPI0000130E6F	SNV	HCRT,synonymous_variant,p.%3D,ENST00000293330,;GHDC,downstream_gene_variant,,ENST00000414034,;GHDC,downstream_gene_variant,,ENST00000428494,;GHDC,downstream_gene_variant,,ENST00000587427,;GHDC,downstream_gene_variant,,ENST00000301671,;KCNH4,upstream_gene_variant,,ENST00000264661,;KCNH4,upstream_gene_variant,,ENST00000607371,;GHDC,downstream_gene_variant,,ENST00000593209,;	264	39	43	SUCCESS
ABCC3	8714	.	GRCh37	17	48736723	48736723	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755878262	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	68	0	ENST00000285238.8:c.800C>A	p.Thr267Lys	p.T267K	ENST00000285238	NM_003786.3	267	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS32681.1	800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACGGCAC	NONE	byFrequency	.	hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957	.	.	ENSP00000285238	.	7/31	.	.	.	.	.	.	.	.	rs755878262	7/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.31)	.	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Thr267Lys,ENST00000427699,;ABCC3,missense_variant,p.Thr267Lys,ENST00000285238,;ABCC3,upstream_gene_variant,,ENST00000513589,;ABCC3,missense_variant,p.Asp285Glu,ENST00000502426,;ABCC3,missense_variant,p.Thr267Lys,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000513511,;ABCC3,3_prime_UTR_variant,,ENST00000515585,;ABCC3,upstream_gene_variant,,ENST00000571855,;ABCC3,upstream_gene_variant,,ENST00000515070,;	880	68	56	SUCCESS
MSI2	124540	.	GRCh37	17	55709212	55709212	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	40	0	ENST00000284073.2:c.727+4548A>G		p.*243*	ENST00000284073	NM_138962.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11596.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCAAAGTG	NONE	.	.	.	.	.	ENSP00000284073	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000284073	Transcript	.	.	ENSG00000153944	18585	.	.	MODIFIER	10/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSI2H_HUMAN	MSI2	HGNC	.	.	UPI0000070D73	SNV	MSI2,3_prime_UTR_variant,,ENST00000579180,;MSI2,3_prime_UTR_variant,,ENST00000322684,;MSI2,intron_variant,,ENST00000284073,;MSI2,intron_variant,,ENST00000416426,;MSI2,intron_variant,,ENST00000442934,;MSI2,intron_variant,,ENST00000579505,;MSI2,downstream_gene_variant,,ENST00000579205,;MSI2,non_coding_transcript_exon_variant,,ENST00000583821,;MSI2,non_coding_transcript_exon_variant,,ENST00000583705,;	.	40	34	SUCCESS
TMC6	11322	.	GRCh37	17	76121927	76121927	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	124	0	ENST00000322914.3:c.310C>A	p.Arg104Ser	p.R104S	ENST00000322914	NM_007267.6	104	Cgc/Agc	0	A:0,A:0	A:0,A:0	.	A:0,A:0	.	T	R/S	protein_coding	YES	CCDS32748.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCGGTTGT	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	A:0.0079,A:0.0079	A:0.0001,A:0.0001	ENSP00000465261	A:0,A:0	5/20	.	.	.	.	.	.	.	.	TMP_ESP_17_76121927_76121927,exm1359924	5/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	A:0,A:0	deleterious(0.01)	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,missense_variant,p.Arg104Ser,ENST00000592063,;TMC6,missense_variant,p.Arg104Ser,ENST00000592594,;TMC6,missense_variant,p.Arg104Ser,ENST00000322914,;TMC6,missense_variant,p.Arg104Ser,ENST00000306591,;TMC6,missense_variant,p.Arg104Ser,ENST00000392467,;TMC6,missense_variant,p.Arg104Ser,ENST00000590602,;TMC6,missense_variant,p.Arg104Ser,ENST00000589271,;TMC6,5_prime_UTR_variant,,ENST00000589553,;TMC6,5_prime_UTR_variant,,ENST00000322933,;TMC8,upstream_gene_variant,,ENST00000318430,;TMC8,upstream_gene_variant,,ENST00000590426,;TMC8,upstream_gene_variant,,ENST00000589691,;TMC8,upstream_gene_variant,,ENST00000590799,;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,3_prime_UTR_variant,,ENST00000586126,;TMC6,non_coding_transcript_exon_variant,,ENST00000591594,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000588792,;	470	124	104	SUCCESS
MC2R	4158	.	GRCh37	18	13884907	13884907	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202040791	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	70	131	0	ENST00000327606.3:c.611C>A	p.Thr204Asn	p.T204N	ENST00000327606	NM_000529.2	204	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS11869.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGTGTGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00520	.	.	ENSP00000333821	.	2/2	.	.	.	.	.	.	.	.	rs202040791	2/2	PASS	ENST00000327606	Transcript	.	.	ENSG00000185231	6930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	deleterious(0.02)	.	ACTHR_HUMAN	MC2R	HGNC	R4GMM0_HUMAN	.	UPI00000503E5	SNV	MC2R,missense_variant,p.Thr204Asn,ENST00000327606,;MC2R,downstream_gene_variant,,ENST00000399821,;	792	131	151	SUCCESS
SLC14A1	6563	.	GRCh37	18	43307136	43307136	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	24	0	ENST00000321925.4:c.-22+2158G>C		p.*8*	ENST00000321925	NM_001128588.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45860.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCCCCC	NONE	.	.	.	.	.	ENSP00000390637	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000436407	Transcript	.	.	ENSG00000141469	10918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UT1_HUMAN	SLC14A1	HGNC	G0W2N5_HUMAN,Q96KQ5_HUMAN,Q8WXW8_HUMAN,Q71UV7_HUMAN,M0QYS8_HUMAN,M0QX00_HUMAN,K7ESL3_HUMAN,K7ELI3_HUMAN,K7EL30_HUMAN,K7EKN6_HUMAN,K7EJ54_HUMAN,J7FHA1_HUMAN,G3K397_HUMAN,F5GWS2_HUMAN,B4DFJ8_HUMAN	.	UPI0000201C67	SNV	SLC14A1,5_prime_UTR_variant,,ENST00000436407,;SLC14A1,5_prime_UTR_variant,,ENST00000589891,;SLC14A1,intron_variant,,ENST00000589322,;SLC14A1,intron_variant,,ENST00000586951,;SLC14A1,intron_variant,,ENST00000535474,;SLC14A1,intron_variant,,ENST00000587601,;SLC14A1,intron_variant,,ENST00000402943,;SLC14A1,intron_variant,,ENST00000502059,;SLC14A1,intron_variant,,ENST00000321925,;SLC14A1,intron_variant,,ENST00000586056,;SLC14A1,intron_variant,,ENST00000415427,;SLC14A1,upstream_gene_variant,,ENST00000589700,;SLC14A1,upstream_gene_variant,,ENST00000586142,;SLC14A1,upstream_gene_variant,,ENST00000590246,;SLC14A1,upstream_gene_variant,,ENST00000590377,;RP11-116O18.3,intron_variant,,ENST00000589510,;RP11-116O18.3,downstream_gene_variant,,ENST00000586213,;SLC14A1,upstream_gene_variant,,ENST00000591943,;SLC14A1,intron_variant,,ENST00000588179,;	447	24	16	SUCCESS
SLC14A1	6563	.	GRCh37	18	43307137	43307137	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	25	0	ENST00000321925.4:c.-22+2159C>T		p.*8*	ENST00000321925	NM_001128588.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45860.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCCCCCC	NONE	.	.	.	.	.	ENSP00000390637	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000436407	Transcript	.	.	ENSG00000141469	10918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UT1_HUMAN	SLC14A1	HGNC	G0W2N5_HUMAN,Q96KQ5_HUMAN,Q8WXW8_HUMAN,Q71UV7_HUMAN,M0QYS8_HUMAN,M0QX00_HUMAN,K7ESL3_HUMAN,K7ELI3_HUMAN,K7EL30_HUMAN,K7EKN6_HUMAN,K7EJ54_HUMAN,J7FHA1_HUMAN,G3K397_HUMAN,F5GWS2_HUMAN,B4DFJ8_HUMAN	.	UPI0000201C67	SNV	SLC14A1,5_prime_UTR_variant,,ENST00000436407,;SLC14A1,5_prime_UTR_variant,,ENST00000589891,;SLC14A1,intron_variant,,ENST00000589322,;SLC14A1,intron_variant,,ENST00000586951,;SLC14A1,intron_variant,,ENST00000535474,;SLC14A1,intron_variant,,ENST00000587601,;SLC14A1,intron_variant,,ENST00000402943,;SLC14A1,intron_variant,,ENST00000502059,;SLC14A1,intron_variant,,ENST00000321925,;SLC14A1,intron_variant,,ENST00000586056,;SLC14A1,intron_variant,,ENST00000415427,;SLC14A1,upstream_gene_variant,,ENST00000589700,;SLC14A1,upstream_gene_variant,,ENST00000586142,;SLC14A1,upstream_gene_variant,,ENST00000590246,;SLC14A1,upstream_gene_variant,,ENST00000590377,;RP11-116O18.3,intron_variant,,ENST00000589510,;RP11-116O18.3,downstream_gene_variant,,ENST00000586213,;SLC14A1,upstream_gene_variant,,ENST00000591943,;SLC14A1,intron_variant,,ENST00000588179,;	448	25	16	SUCCESS
ATP8B1	5205	.	GRCh37	18	55373803	55373803	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	83	0	ENST00000283684.4:c.198C>G	p.Val66=	p.V66=	ENST00000283684		66	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS11965.1	198	MUTECT|MUSE|VARSCANS	.	GCTTTGACTTG	NONE	.	.	hmmpanther:PTHR24092:SF48,hmmpanther:PTHR24092	.	.	ENSP00000445359	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000536015	Transcript	.	.	ENSG00000081923	3706	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT8B1_HUMAN	ATP8B1	HGNC	K7ERI0_HUMAN,K7EQC4_HUMAN	.	UPI000013DD54	SNV	ATP8B1,synonymous_variant,p.%3D,ENST00000283684,;ATP8B1,synonymous_variant,p.%3D,ENST00000536015,;RP11-35G9.3,intron_variant,,ENST00000599199,;RP11-35G9.5,intron_variant,,ENST00000588925,;ATP8B1,non_coding_transcript_exon_variant,,ENST00000589147,;ATP8B1,intron_variant,,ENST00000591728,;	318	83	70	SUCCESS
SEC11C	90701	.	GRCh37	18	56819870	56819870	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	111	0	ENST00000587834.1:c.300A>T	p.Glu100Asp	p.E100D	ENST00000587834	NM_033280.2	100	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS11970.1	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAAGGACG	NONE	.	.	hmmpanther:PTHR10806,hmmpanther:PTHR10806:SF3,Pfam_domain:PF00717,Gene3D:2.10.109.10,TIGRFAM_domain:TIGR02228,Superfamily_domains:SSF51306	.	.	ENSP00000468633	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000587834	Transcript	.	.	ENSG00000166562	23400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.48)	.	SC11C_HUMAN	SEC11C	HGNC	B4DI03_HUMAN	.	UPI0000000DC8	SNV	SEC11C,missense_variant,p.Glu100Asp,ENST00000587834,;SEC11C,missense_variant,p.Glu100Asp,ENST00000588875,;SEC11C,downstream_gene_variant,,ENST00000592774,;SEC11C,downstream_gene_variant,,ENST00000593132,;SEC11C,non_coding_transcript_exon_variant,,ENST00000585864,;SEC11C,non_coding_transcript_exon_variant,,ENST00000509791,;SEC11C,intron_variant,,ENST00000299714,;SEC11C,upstream_gene_variant,,ENST00000591406,;	772	111	100	SUCCESS
GGN	199720	.	GRCh37	19	38876196	38876196	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs767413962	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	41	126	0	ENST00000334928.6:c.1706C>A	p.Ala569Asp	p.A569D	ENST00000334928	NM_152657.3	569	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS12516.1	1706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGCCCCG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000334940	.	3/4	.	.	.	.	.	.	.	.	rs767413962	3/4	PASS	ENST00000334928	Transcript	.	.	ENSG00000179168	18869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0.01)	.	GGN_HUMAN	GGN	HGNC	K7ENT5_HUMAN,K7EJI6_HUMAN	.	UPI0000073CAB	SNV	GGN,missense_variant,p.Ala569Asp,ENST00000334928,;GGN,downstream_gene_variant,,ENST00000587676,;SPRED3,upstream_gene_variant,,ENST00000338502,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000592035,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000592561,;PSMD8,downstream_gene_variant,,ENST00000215071,;GGN,downstream_gene_variant,,ENST00000586599,;PSMD8,downstream_gene_variant,,ENST00000585598,;SPRED3,upstream_gene_variant,,ENST00000586301,;SPRED3,upstream_gene_variant,,ENST00000587013,;AC005789.9,non_coding_transcript_exon_variant,,ENST00000585411,;GGN,intron_variant,,ENST00000591809,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,intron_variant,,ENST00000585737,;SPRED3,upstream_gene_variant,,ENST00000586958,;PSMD8,downstream_gene_variant,,ENST00000592001,;PSMD8,downstream_gene_variant,,ENST00000590331,;	1839	126	140	SUCCESS
HNRNPL	3191	.	GRCh37	19	39329533	39329533	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	60	0	ENST00000221419.5:c.1355+1G>A		p.X452_splice	ENST00000221419	NM_001533.2	452		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTACCAGAC	NONE	.	.	.	.	.	ENSP00000221419	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000221419	Transcript	.	.	ENSG00000104824	5045	.	.	HIGH	9/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRPL_HUMAN	HNRNPL	HGNC	Q6NTA2_HUMAN	.	UPI00004432FA	SNV	HNRNPL,splice_donor_variant,,ENST00000600873,;HNRNPL,splice_donor_variant,,ENST00000601449,;HNRNPL,splice_donor_variant,,ENST00000221419,;AC104534.3,splice_donor_variant,,ENST00000594769,;AC104534.3,intron_variant,,ENST00000602021,;HNRNPL,downstream_gene_variant,,ENST00000600233,;HNRNPL,splice_donor_variant,,ENST00000595443,;HNRNPL,splice_donor_variant,,ENST00000388749,;HNRNPL,splice_donor_variant,,ENST00000595164,;HNRNPL,splice_donor_variant,,ENST00000597731,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000601664,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,upstream_gene_variant,,ENST00000595804,;	.	60	44	SUCCESS
FCGBP	8857	.	GRCh37	19	40408687	40408687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	99	289	0	ENST00000221347.6:c.4152G>T	p.Gln1384His	p.Q1384H	ENST00000221347	NM_003890.2	1384	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS12546.1	4152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCTGGTA	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Gln1384His,ENST00000221347,;FCGBP,upstream_gene_variant,,ENST00000601713,;	4160	289	266	SUCCESS
KCNC3	3748	.	GRCh37	19	50826433	50826433	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1300698491	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	41	0	ENST00000477616.1:c.1777G>A	p.Gly593Ser	p.G593S	ENST00000477616	NM_004977.2	593	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12793.1	1777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11537:SF123,hmmpanther:PTHR11537,Prints_domain:PR01582	.	.	ENSP00000434241	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000477616	Transcript	1	.	ENSG00000131398	6235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.39)	.	KCNC3_HUMAN	KCNC3	HGNC	.	.	UPI000013EA5D	SNV	KCNC3,missense_variant,p.Gly593Ser,ENST00000477616,;KCNC3,missense_variant,p.Gly593Ser,ENST00000376959,;KCNC3,intron_variant,,ENST00000474951,;KCNC3,intron_variant,,ENST00000391818,;	2072	41	29	SUCCESS
NAPSA	9476	.	GRCh37	19	50868909	50868909	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	25	0	ENST00000253719.2:c.-31G>A		p.*11*	ENST00000253719	NM_004851.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12794.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTCCTGGG	NONE	.	.	.	.	.	ENSP00000253719	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000253719	Transcript	.	.	ENSG00000131400	13395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAPSA_HUMAN	NAPSA	HGNC	.	.	UPI0000046F0E	SNV	NAPSA,5_prime_UTR_variant,,ENST00000253719,;NR1H2,intron_variant,,ENST00000600355,;NR1H2,intron_variant,,ENST00000542413,;NAPSA,upstream_gene_variant,,ENST00000598915,;CTB-191K22.6,downstream_gene_variant,,ENST00000597049,;NR1H2,intron_variant,,ENST00000600978,;NAPSA,5_prime_UTR_variant,,ENST00000599233,;NAPSA,non_coding_transcript_exon_variant,,ENST00000596653,;NR1H2,intron_variant,,ENST00000593532,;NAPSA,upstream_gene_variant,,ENST00000599181,;NAPSA,upstream_gene_variant,,ENST00000597378,;	179	25	20	SUCCESS
POLD1	5424	.	GRCh37	19	50921101	50921101	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs541931950	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	62	119	0	ENST00000440232.2:c.3221G>A	p.Arg1074Gln	p.R1074Q	ENST00000440232	NM_002691.3	1074	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS12795.1	3221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGGACT	NONE	by1000G	.	Pfam_domain:PF14260,hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF11	A:0	.	ENSP00000406046	A:0	27/27	.	.	.	.	.	.	.	.	rs541931950	27/27	PASS	ENST00000440232	Transcript	1	A:0.0002	ENSG00000062822	9175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	A:0.001	deleterious(0.02)	.	DPOD1_HUMAN	POLD1	HGNC	M0R2J2_HUMAN	.	UPI000007288E	SNV	POLD1,missense_variant,p.Arg1100Gln,ENST00000595904,;POLD1,missense_variant,p.Arg1074Gln,ENST00000599857,;POLD1,missense_variant,p.Arg1074Gln,ENST00000440232,;POLD1,synonymous_variant,p.%3D,ENST00000593981,;CTD-2545M3.6,intron_variant,,ENST00000599632,;SPIB,upstream_gene_variant,,ENST00000439922,;SPIB,upstream_gene_variant,,ENST00000594685,;POLD1,downstream_gene_variant,,ENST00000593407,;SPIB,upstream_gene_variant,,ENST00000596074,;SPIB,upstream_gene_variant,,ENST00000270632,;SPIB,upstream_gene_variant,,ENST00000597855,;SPIB,upstream_gene_variant,,ENST00000595883,;POLD1,downstream_gene_variant,,ENST00000596425,;POLD1,splice_region_variant,,ENST00000596221,;POLD1,splice_region_variant,,ENST00000600859,;POLD1,splice_region_variant,,ENST00000597963,;SPIB,upstream_gene_variant,,ENST00000594188,;SPIB,upstream_gene_variant,,ENST00000599923,;POLD1,downstream_gene_variant,,ENST00000596648,;	3274	119	138	SUCCESS
ACPT	0	.	GRCh37	19	51293729	51293729	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1416355711	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	54	0	ENST00000270593.1:c.58C>G	p.Leu20Val	p.L20V	ENST00000270593	NM_033068.2	20	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12802.1	58	MUTECT|MUSE	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11567:SF117,hmmpanther:PTHR11567	.	.	ENSP00000270593	.	1/11	.	.	.	.	.	.	.	.	COSM1244142	1/11	PASS	ENST00000270593	Transcript	.	.	ENSG00000142513	14376	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.001)	.	tolerated(0.27)	1	PPAT_HUMAN	ACPT	HGNC	.	.	UPI0000048D54	SNV	ACPT,missense_variant,p.Leu20Val,ENST00000270594,;ACPT,missense_variant,p.Leu20Val,ENST00000270593,;CTD-2568A17.1,upstream_gene_variant,,ENST00000563228,;CTD-2568A17.1,upstream_gene_variant,,ENST00000562076,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	58	54	61	SUCCESS
LAIR1	3903	.	GRCh37	19	54868132	54868132	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	70	0	ENST00000391742.2:c.551T>G	p.Phe184Cys	p.F184C	ENST00000391742		184	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS12891.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGAAGAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11738:SF12,hmmpanther:PTHR11738	.	.	ENSP00000375622	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000391742	Transcript	.	.	ENSG00000167613	6477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	LAIR1_HUMAN	LAIR1	HGNC	.	.	UPI000011A058	SNV	LAIR1,missense_variant,p.Phe166Cys,ENST00000474878,;LAIR1,missense_variant,p.Phe184Cys,ENST00000391742,;LAIR1,missense_variant,p.Phe167Cys,ENST00000348231,;LAIR1,missense_variant,p.Phe183Cys,ENST00000434277,;LAIR1,missense_variant,p.Phe166Cys,ENST00000391743,;LAIR1,missense_variant,p.Phe177Cys,ENST00000313038,;LAIR1,downstream_gene_variant,,ENST00000438193,;LAIR1,downstream_gene_variant,,ENST00000444687,;CTD-2587H19.1,upstream_gene_variant,,ENST00000596234,;LAIR1,non_coding_transcript_exon_variant,,ENST00000463489,;LAIR1,downstream_gene_variant,,ENST00000484116,;LAIR1,downstream_gene_variant,,ENST00000480122,;LAIR1,downstream_gene_variant,,ENST00000468656,;LAIR1,3_prime_UTR_variant,,ENST00000391741,;LAIR1,3_prime_UTR_variant,,ENST00000440716,;LAIR1,3_prime_UTR_variant,,ENST00000418556,;LAIR1,non_coding_transcript_exon_variant,,ENST00000460312,;LAIR1,non_coding_transcript_exon_variant,,ENST00000475389,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000427131,;LAIR1,downstream_gene_variant,,ENST00000420483,;LAIR1,downstream_gene_variant,,ENST00000423853,;LAIR1,downstream_gene_variant,,ENST00000436513,;	704	70	92	SUCCESS
NLRP2	55655	.	GRCh37	19	55494016	55494016	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	66	0	ENST00000448584.2:c.950T>A	p.Leu317His	p.L317H	ENST00000448584	NM_001174083.1	317	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS12913.1	950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCTCCTGG	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Pfam_domain:PF05729,Gene3D:3.40.50.300	.	.	ENSP00000445135	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Leu295His,ENST00000339757,;NLRP2,missense_variant,p.Leu317His,ENST00000543010,;NLRP2,missense_variant,p.Leu317His,ENST00000448584,;NLRP2,missense_variant,p.Leu294His,ENST00000427260,;NLRP2,missense_variant,p.Leu295His,ENST00000537859,;NLRP2,missense_variant,p.Leu314His,ENST00000263437,;NLRP2,missense_variant,p.Leu293His,ENST00000391721,;NLRP2,missense_variant,p.Leu293His,ENST00000538819,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000381637,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;	1093	66	71	SUCCESS
EMR1	0	.	GRCh37	19	6928158	6928158	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	18	38	0	ENST00000312053.4:c.2225G>A	p.Cys742Tyr	p.C742Y	ENST00000312053	NM_001974.4	742	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS12175.1	2225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGCTGGC	NONE	.	.	Prints_domain:PR01128,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207,PROSITE_profiles:PS50261	.	.	ENSP00000311545	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000312053	Transcript	.	.	ENSG00000174837	3336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	EMR1_HUMAN	EMR1	HGNC	.	.	UPI0000203241	SNV	EMR1,missense_variant,p.Cys690Tyr,ENST00000381404,;EMR1,missense_variant,p.Cys601Tyr,ENST00000381407,;EMR1,missense_variant,p.Cys565Tyr,ENST00000450315,;EMR1,missense_variant,p.Cys677Tyr,ENST00000250572,;EMR1,missense_variant,p.Cys742Tyr,ENST00000312053,;	2262	38	27	SUCCESS
MUC16	94025	.	GRCh37	19	8994527	8994527	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	51	125	0	ENST00000397910.4:c.41365C>G	p.Leu13789Val	p.L13789V	ENST00000397910	NM_024690.2	13789	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS54212.1	41365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGATGGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:0047452,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	64/84	.	.	.	.	.	.	.	.	.	64/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.598)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu430Val,ENST00000380951,;MUC16,missense_variant,p.Leu13789Val,ENST00000397910,;MUC16,missense_variant,p.Leu629Val,ENST00000599436,;MUC16,missense_variant,p.Leu607Val,ENST00000601404,;MUC16,missense_variant,p.Leu409Val,ENST00000596768,;	41569	125	77	SUCCESS
TNFRSF8	943	.	GRCh37	1	12185977	12185977	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	41	94	0	ENST00000263932.2:c.1154-31G>A		p.*385*	ENST00000263932	NM_001243.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS144.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGCAAAG	NONE	.	.	.	.	.	ENSP00000263932	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263932	Transcript	.	.	ENSG00000120949	11923	.	.	MODIFIER	10/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TNFRSF8	HGNC	A5D8T4_HUMAN	.	UPI000013D48C	SNV	TNFRSF8,5_prime_UTR_variant,,ENST00000413146,;TNFRSF8,intron_variant,,ENST00000417814,;TNFRSF8,intron_variant,,ENST00000263932,;TNFRSF8,upstream_gene_variant,,ENST00000479933,;TNFRSF8,intron_variant,,ENST00000514649,;	.	94	125	SUCCESS
FLG	2312	.	GRCh37	1	152277071	152277071	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs545185518	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	10	62	0	ENST00000368799.1:c.10291C>A	p.Gln3431Lys	p.Q3431K	ENST00000368799	NM_002016.1	3431	Cag/Aag	0	.	T:0	.	T:0	.	T	Q/K	protein_coding	YES	CCDS30860.1	10291	MUTECT|MUSE	.	GTCCTGACCCT	NONE	by1000G	.	.	T:0	.	ENSP00000357789	T:0	3/3	.	.	.	.	.	.	.	.	rs545185518	3/3	PASS	ENST00000368799	Transcript	.	T:0.0002	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	T:0.001	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gln3431Lys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	10327	62	158	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156908219	156908219	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	90	37	0	ENST00000361409.2:c.4063A>T	p.Lys1355Ter	p.K1355*	ENST00000361409	NM_014784.3	1355	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS1163.1	4183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTTTGTTC	NONE	.	.	hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825	.	.	ENSP00000357177	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,stop_gained,p.Lys1355Ter,ENST00000361409,;ARHGEF11,stop_gained,p.Lys771Ter,ENST00000315174,;ARHGEF11,stop_gained,p.Lys1395Ter,ENST00000368194,;MIR765,upstream_gene_variant,,ENST00000390226,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000492592,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000487682,;	5223	37	123	SUCCESS
KIF14	9928	.	GRCh37	1	200522691	200522691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	271	161	0	ENST00000367350.4:c.4772T>C	p.Leu1591Ser	p.L1591S	ENST00000367350	NM_014875.2	1591	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS30963.1	4772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAACAAA	NONE	.	.	.	.	.	ENSP00000356319	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.2)	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,missense_variant,p.Leu1591Ser,ENST00000367350,;	5211	161	400	SUCCESS
RYR2	6262	.	GRCh37	1	237961396	237961396	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	180	108	0	ENST00000366574.2:c.14016G>A	p.Met4672Ile	p.M4672I	ENST00000366574	NM_001035.2	4672	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS55691.1	14016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGGACAA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	97/105	.	.	.	.	.	.	.	.	.	97/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Met4656Ile,ENST00000542537,;RYR2,missense_variant,p.Met4672Ile,ENST00000366574,;RYR2,missense_variant,p.Met4678Ile,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;RYR2,upstream_gene_variant,,ENST00000466626,;	14333	108	233	SUCCESS
RPL11	6135	.	GRCh37	1	24020395	24020395	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	64	0	ENST00000374550.3:c.256G>T	p.Gly86Cys	p.G86C	ENST00000374550	NM_000975.3	86	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS238.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGGTCTA	NONE	.	.	hmmpanther:PTHR11994,Pfam_domain:PF00673,Gene3D:3.30.1440.10,PIRSF_domain:PIRSF002161,Superfamily_domains:SSF55282	.	.	ENSP00000363676	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000374550	Transcript	.	.	ENSG00000142676	10301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	RL11_HUMAN	RPL11	HGNC	Q5VVD0_HUMAN,Q5VVC9_HUMAN	.	UPI00000019F7	SNV	RPL11,missense_variant,p.Gly84Cys,ENST00000443624,;RPL11,missense_variant,p.Gly84Cys,ENST00000458455,;RPL11,missense_variant,p.Gly86Cys,ENST00000374550,;RPL11,non_coding_transcript_exon_variant,,ENST00000482370,;RPL11,downstream_gene_variant,,ENST00000467075,;	301	64	88	SUCCESS
IL22RA1	58985	.	GRCh37	1	24448089	24448089	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	74	0	ENST00000270800.1:c.931G>C	p.Glu311Gln	p.E311Q	ENST00000270800	NM_021258.3	311	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS247.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCCCTGG	NONE	.	.	hmmpanther:PTHR20859:SF20,hmmpanther:PTHR20859	.	.	ENSP00000270800	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000270800	Transcript	.	.	ENSG00000142677	13700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0.01)	.	I22R1_HUMAN	IL22RA1	HGNC	.	.	UPI0000071143	SNV	IL22RA1,missense_variant,p.Glu311Gln,ENST00000270800,;	970	74	78	SUCCESS
ADPRHL2	0	.	GRCh37	1	36554502	36554502	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	26	0	ENST00000373178.4:c.-4G>A		p.*2*	ENST00000373178	NM_017825.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS402.1	.	RADIA|MUTECT|MUSE	.	TGCGCGCGGAT	NONE	.	.	.	.	.	ENSP00000362273	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373178	Transcript	.	.	ENSG00000116863	21304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARHL2_HUMAN	ADPRHL2	HGNC	B7ZAN4_HUMAN,B4DHV5_HUMAN	.	UPI0000039EBB	SNV	ADPRHL2,5_prime_UTR_variant,,ENST00000373178,;TEKT2,downstream_gene_variant,,ENST00000207457,;TEKT2,downstream_gene_variant,,ENST00000473120,;TEKT2,downstream_gene_variant,,ENST00000469024,;	27	26	19	SUCCESS
EPHA10	284656	.	GRCh37	1	38187384	38187384	+	synonymous_variant	Silent	SNP	C	C	T	rs1268330134	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	77	174	0	ENST00000373048.4:c.2094G>A	p.Leu698=	p.L698=	ENST00000373048	NM_001099439.1	698	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41305.1	2094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCAGCGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000362139	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,synonymous_variant,p.%3D,ENST00000373048,;EPHA10,synonymous_variant,p.%3D,ENST00000330210,;EPHA10,synonymous_variant,p.%3D,ENST00000427468,;EPHA10,3_prime_UTR_variant,,ENST00000540011,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,missense_variant,p.Gly215Arg,ENST00000432874,;EPHA10,synonymous_variant,p.%3D,ENST00000534097,;EPHA10,3_prime_UTR_variant,,ENST00000437645,;EPHA10,non_coding_transcript_exon_variant,,ENST00000453577,;	2094	174	198	SUCCESS
FOXE3	2301	.	GRCh37	1	47881990	47881990	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	20	0	ENST00000335071.2:c.3G>A	p.Met1?	p.M1?	ENST00000335071	NM_012186.2	1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS550.1	3	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGATGGCGGG	NONE	.	.	hmmpanther:PTHR11829:SF120,hmmpanther:PTHR11829	.	.	ENSP00000334472	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335071	Transcript	.	.	ENSG00000186790	3808	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated_low_confidence(0.14)	.	FOXE3_HUMAN	FOXE3	HGNC	.	.	UPI000012ADD3	SNV	FOXE3,start_lost,p.Met1?,ENST00000335071,;	247	20	28	SUCCESS
ELTD1	0	.	GRCh37	1	79392770	79392770	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	47	114	0	ENST00000370742.3:c.884T>C	p.Val295Ala	p.V295A	ENST00000370742	NM_022159.3	295	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS41352.1	884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAACATTG	BUFFER|p.A298V|c.893C>T|3	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF12003	.	.	ENSP00000359778	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.32)	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Val295Ala,ENST00000370742,;	948	114	122	SUCCESS
SNPH	9751	.	GRCh37	20	1276779	1276779	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	42	57	0	ENST00000381873.3:c.-47-190G>C		p.*16*	ENST00000381873	NM_014723.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13012.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGTGGGA	NONE	.	.	.	.	.	ENSP00000371297	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381873	Transcript	.	.	ENSG00000101298	15931	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNPH_HUMAN	SNPH	HGNC	.	.	UPI000007424E	SNV	SNPH,5_prime_UTR_variant,,ENST00000381867,;SNPH,intron_variant,,ENST00000381873,;RAD21L1,intron_variant,,ENST00000402452,;RAD21L1,intron_variant,,ENST00000381882,;	.	57	68	SUCCESS
CST9L	128821	.	GRCh37	20	23549094	23549094	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	39	48	0	ENST00000376979.3:c.-7C>T		p.*3*	ENST00000376979	NM_080610.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13157.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGACTGT	NONE	.	.	.	.	.	ENSP00000366178	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,5_prime_UTR_variant,,ENST00000376979,;	293	48	62	SUCCESS
KRTAP22-1	337979	.	GRCh37	21	31973566	31973577	+	inframe_deletion	In_Frame_Del	DEL	TGGTTTTCTGGC	TGGTTTTCTGGC	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	TGGTTTTCTGGC	TGGTTTTCTGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	66	0	ENST00000334680.2:c.129_140del	p.Trp43_Gly46del	p.W43_G46del	ENST00000334680	NM_181620.1	43	TGGTTTTCTGGC/-	0	.	.	.	.	.	-	WFSG/-	protein_coding	YES	CCDS13601.1	127-138	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATCTTGGTTTTCTGGCTGCTT	NONE	.	.	.	.	.	ENSP00000333887	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334680	Transcript	.	.	ENSG00000186924	18947	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KR221_HUMAN	KRTAP22-1	HGNC	.	.	UPI00001A9E4B	deletion	KRTAP22-1,inframe_deletion,p.Trp43_Gly46del,ENST00000334680,;KRTAP6-2,upstream_gene_variant,,ENST00000334897,;	153-164	66	53	SUCCESS
BRWD1	54014	.	GRCh37	21	40608663	40608663	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1229488330	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	83	0	ENST00000333229.2:c.2624A>G	p.Asn875Ser	p.N875S	ENST00000333229	NM_018963.4	875	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13662.1	2624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAATTGATG	NONE	.	.	hmmpanther:PTHR16266:SF26,hmmpanther:PTHR16266	.	.	ENSP00000330753	.	23/42	.	.	.	.	.	.	.	.	COSM1414095,COSM1414094	23/42	PASS	ENST00000333229	Transcript	.	.	ENSG00000185658	12760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.121)	.	deleterious(0.03)	1,1	BRWD1_HUMAN	BRWD1	HGNC	.	.	UPI0000163C12	SNV	BRWD1,missense_variant,p.Asn875Ser,ENST00000342449,;BRWD1,missense_variant,p.Asn875Ser,ENST00000380800,;BRWD1,missense_variant,p.Asn875Ser,ENST00000333229,;BRWD1,missense_variant,p.Asn543Ser,ENST00000455867,;BRWD1,missense_variant,p.Asn339Ser,ENST00000446924,;BRWD1,3_prime_UTR_variant,,ENST00000430093,;BRWD1,3_prime_UTR_variant,,ENST00000445668,;BRWD1,3_prime_UTR_variant,,ENST00000445245,;BRWD1,3_prime_UTR_variant,,ENST00000412604,;METTL21AP1,upstream_gene_variant,,ENST00000438852,;	2952	83	89	SUCCESS
MIR648	693233	.	GRCh37	22	18463717	18463717	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs746173175	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	26	0	ENST00000385046.1:n.11C>T		p.*4*	ENST00000385046				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46659.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGTGTCT	NONE	.	.	.	.	.	ENSP00000416015	.	.	.	.	.	.	.	.	.	.	rs746173175	.	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODIFIER	1/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,intron_variant,,ENST00000424046,;MICAL3,intron_variant,,ENST00000207726,;MICAL3,intron_variant,,ENST00000444520,;MICAL3,intron_variant,,ENST00000429452,;MICAL3,intron_variant,,ENST00000441493,;MIR648,non_coding_transcript_exon_variant,,ENST00000385046,;XXbac-B476C20.14,downstream_gene_variant,,ENST00000429618,;MICAL3,intron_variant,,ENST00000495076,;	.	26	27	SUCCESS
GP1BB	2812	.	GRCh37	22	19711909	19711931	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCCGCGCTCGCGCCGCAGCCC	GGCCCGCGCTCGCGCCGCAGCCC	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	GGCCCGCGCTCGCGCCGCAGCCC	GGCCCGCGCTCGCGCCGCAGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	665	84	740	0	ENST00000366425.3:c.546_568del	p.Arg183ValfsTer118	p.R183Vfs*118	ENST00000366425	NM_000407.4	181	cgGGCCCGCGCTCGCGCCGCAGCCCgg/cggg	0	.	.	.	.	.	-	RARARAAAR/RX	protein_coding	YES	CCDS42980.1	543-565	VARSCANI*|PINDEL	.	GGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22650,hmmpanther:PTHR22650:SF3	.	.	ENSP00000383382	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366425	Transcript	.	.	ENSG00000203618	4440	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GP1BB_HUMAN	GP1BB	HGNC	F1C636_HUMAN	.	UPI000012B963	deletion	GP1BB,frameshift_variant,p.Arg183ValfsTer118,ENST00000366425,;SEPT5,downstream_gene_variant,,ENST00000431124,;SEPT5,downstream_gene_variant,,ENST00000395109,;SEPT5,downstream_gene_variant,,ENST00000383045,;SEPT5,downstream_gene_variant,,ENST00000406395,;SEPT5,downstream_gene_variant,,ENST00000412544,;SEPT5,downstream_gene_variant,,ENST00000438754,;SEPT5,downstream_gene_variant,,ENST00000413258,;SEPT5,downstream_gene_variant,,ENST00000455784,;SEPT5,3_prime_UTR_variant,,ENST00000431044,;SEPT5,downstream_gene_variant,,ENST00000455843,;SEPT5,downstream_gene_variant,,ENST00000406172,;SEPT5,downstream_gene_variant,,ENST00000470814,;SEPT5,downstream_gene_variant,,ENST00000480423,;SEPT5,downstream_gene_variant,,ENST00000477238,;	1168-1190	740	749	SUCCESS
PES1	23481	.	GRCh37	22	30985180	30985180	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	27	0	ENST00000354694.7:c.102T>A	p.Phe34Leu	p.F34L	ENST00000354694	NM_014303.3	34	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS13880.1	102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTAAAGTC	NONE	.	.	HAMAP:MF_03028,hmmpanther:PTHR12221,Pfam_domain:PF06732	.	.	ENSP00000346725	.	2/15	.	.	.	.	.	.	.	.	COSM3553369	2/15	PASS	ENST00000354694	Transcript	.	.	ENSG00000100029	8848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.966)	.	deleterious(0)	1	PESC_HUMAN	PES1	HGNC	B3KXD6_HUMAN,B2RDF2_HUMAN	.	UPI0000001618	SNV	PES1,missense_variant,p.Phe34Leu,ENST00000402284,;PES1,missense_variant,p.Phe34Leu,ENST00000354694,;PES1,missense_variant,p.Phe34Leu,ENST00000335214,;PES1,splice_region_variant,,ENST00000405677,;PES1,splice_region_variant,,ENST00000402281,;PES1,splice_region_variant,,ENST00000433575,;PES1,splice_region_variant,,ENST00000466614,;PES1,splice_region_variant,,ENST00000406208,;PES1,upstream_gene_variant,,ENST00000477762,;	209	27	59	SUCCESS
CACNA1I	8911	.	GRCh37	22	40058779	40058779	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	23	52	0	ENST00000402142.3:c.3373-2A>T		p.X1125_splice	ENST00000402142	NM_021096.3	1125		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46710.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTAGACCC	NONE	.	.	.	.	.	ENSP00000385019	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	HIGH	17/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,splice_acceptor_variant,,ENST00000401624,;CACNA1I,splice_acceptor_variant,,ENST00000407673,;CACNA1I,splice_acceptor_variant,,ENST00000402142,;CACNA1I,splice_acceptor_variant,,ENST00000400164,;CACNA1I,splice_acceptor_variant,,ENST00000336649,;CACNA1I,splice_acceptor_variant,,ENST00000404898,;	.	52	39	SUCCESS
SGSM3	27352	.	GRCh37	22	40804805	40804805	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs773812224	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	68	0	ENST00000248929.9:c.1861G>T	p.Glu621Ter	p.E621*	ENST00000248929	NM_015705.4	621	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14002.1	1861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGAAGAT	NONE	.	.	Pfam_domain:PF02759,PROSITE_profiles:PS50826	.	.	ENSP00000248929	.	18/22	.	.	.	.	.	.	.	.	rs773812224	18/22	PASS	ENST00000248929	Transcript	.	.	ENSG00000100359	25228	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGSM3_HUMAN	SGSM3	HGNC	B9A6J5_HUMAN,B0QY80_HUMAN	.	UPI0000035D8C	SNV	SGSM3,stop_gained,p.Glu554Ter,ENST00000454798,;SGSM3,stop_gained,p.Glu66Ter,ENST00000427834,;SGSM3,stop_gained,p.Glu4Ter,ENST00000417424,;SGSM3,stop_gained,p.Glu621Ter,ENST00000248929,;MKL1,downstream_gene_variant,,ENST00000402042,;SGSM3,downstream_gene_variant,,ENST00000457767,;MKL1,downstream_gene_variant,,ENST00000355630,;MKL1,downstream_gene_variant,,ENST00000396617,;MKL1,downstream_gene_variant,,ENST00000407029,;SGSM3,non_coding_transcript_exon_variant,,ENST00000485962,;SGSM3,non_coding_transcript_exon_variant,,ENST00000470518,;SGSM3,non_coding_transcript_exon_variant,,ENST00000469719,;SGSM3,non_coding_transcript_exon_variant,,ENST00000462457,;SGSM3,non_coding_transcript_exon_variant,,ENST00000478085,;SGSM3,downstream_gene_variant,,ENST00000467915,;SGSM3,downstream_gene_variant,,ENST00000481408,;MKL1,downstream_gene_variant,,ENST00000477468,;SGSM3,downstream_gene_variant,,ENST00000480830,;SGSM3,downstream_gene_variant,,ENST00000481028,;	2050	68	66	SUCCESS
EP300	2033	.	GRCh37	22	41569712	41569712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	104	243	0	ENST00000263253.7:c.4703A>G	p.Lys1568Arg	p.K1568R	ENST00000263253	NM_001429.3	1568	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14010.1	4703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAGAAGA	BUFFER|p.K1570E|c.4708A>G|3,BUFFER|p.K1570K|c.4710A>G|3	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4,Pfam_domain:PF08214	.	.	ENSP00000263253	.	29/31	.	.	.	.	.	.	.	.	.	29/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.Lys1568Arg,ENST00000263253,;RP1-85F18.6,intron_variant,,ENST00000415054,;RP1-85F18.5,downstream_gene_variant,,ENST00000420537,;	5922	243	278	SUCCESS
PNPLA5	150379	.	GRCh37	22	44285214	44285214	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	35	0	ENST00000216177.4:c.697C>G	p.Leu233Val	p.L233V	ENST00000216177	NM_138814.3	233	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14053.1	697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGAGGCTGG	NONE	.	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF4,Superfamily_domains:SSF52151	.	.	ENSP00000216177	.	4/9	.	.	.	.	.	.	.	.	COSM726910	4/9	PASS	ENST00000216177	Transcript	.	.	ENSG00000100341	24888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.13)	1	PLPL5_HUMAN	PNPLA5	HGNC	.	.	UPI000006D0C8	SNV	PNPLA5,missense_variant,p.Leu119Val,ENST00000381198,;PNPLA5,missense_variant,p.Leu119Val,ENST00000593866,;PNPLA5,missense_variant,p.Leu233Val,ENST00000216177,;PNPLA5,missense_variant,p.Leu233Val,ENST00000597664,;PNPLA5,intron_variant,,ENST00000438734,;	830	35	37	SUCCESS
R3HDM1	23518	.	GRCh37	2	136437817	136437817	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	51	105	0	ENST00000264160.4:c.2277T>A	p.Ser759=	p.S759=	ENST00000264160	NM_015361.2	759	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2177.1	2277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTAATCA	NONE	.	.	hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF12	.	.	ENSP00000264160	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000264160	Transcript	.	.	ENSG00000048991	9757	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HD1_HUMAN	R3HDM1	HGNC	Q53SQ1_HUMAN,Q4ZG59_HUMAN	.	UPI000007456C	SNV	R3HDM1,synonymous_variant,p.%3D,ENST00000429703,;R3HDM1,synonymous_variant,p.%3D,ENST00000264160,;R3HDM1,synonymous_variant,p.%3D,ENST00000410054,;R3HDM1,synonymous_variant,p.%3D,ENST00000409606,;R3HDM1,synonymous_variant,p.%3D,ENST00000329971,;R3HDM1,synonymous_variant,p.%3D,ENST00000409478,;R3HDM1,synonymous_variant,p.%3D,ENST00000445855,;	2647	105	124	SUCCESS
ITGB6	3694	.	GRCh37	2	161052096	161052096	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775303141	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	54	0	ENST00000283249.2:c.377G>A	p.Arg126His	p.R126H	ENST00000283249	NM_001282388.1	126	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2212.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCGGACA	NONE	byFrequency	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF69179	.	.	ENSP00000283249	.	4/15	.	.	.	.	.	.	.	.	rs775303141	4/15	PASS	ENST00000283249	Transcript	.	.	ENSG00000115221	6161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ITB6_HUMAN	ITGB6	HGNC	.	.	UPI000012DA13	SNV	ITGB6,missense_variant,p.Arg84His,ENST00000428609,;ITGB6,missense_variant,p.Arg126His,ENST00000409872,;ITGB6,missense_variant,p.Arg126His,ENST00000409967,;ITGB6,missense_variant,p.Arg126His,ENST00000283249,;ITGB6,non_coding_transcript_exon_variant,,ENST00000485635,;ITGB6,synonymous_variant,p.%3D,ENST00000409583,;	615	54	55	SUCCESS
STK39	27347	.	GRCh37	2	168986092	168986092	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	55	123	0	ENST00000355999.4:c.1048C>T	p.Leu350=	p.L350=	ENST00000355999	NM_013233.2	350	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42770.1	1048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGCTTCT	NONE	.	.	hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361,Superfamily_domains:SSF56112	.	.	ENSP00000348278	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000355999	Transcript	.	.	ENSG00000198648	17717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK39_HUMAN	STK39	HGNC	.	.	UPI000013D46D	SNV	STK39,synonymous_variant,p.%3D,ENST00000355999,;	1754	123	159	SUCCESS
TTN	7273	.	GRCh37	2	179455790	179455790	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	24	103	0	ENST00000591111.1:c.55739T>G	p.Val18580Gly	p.V18580G	ENST00000591111		18580	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS59435.1	60662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAACACCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	304/363	.	.	.	.	.	.	.	.	.	304/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val11281Gly,ENST00000359218,;TTN,missense_variant,p.Val18580Gly,ENST00000591111,;TTN,missense_variant,p.Val20221Gly,ENST00000589042,;TTN,missense_variant,p.Val11348Gly,ENST00000342175,;TTN,missense_variant,p.Val17653Gly,ENST00000342992,;TTN,missense_variant,p.Val11156Gly,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000589234,;	60887	103	140	SUCCESS
COL3A1	1281	.	GRCh37	2	189873710	189873710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	63	122	0	ENST00000304636.3:c.3586T>C	p.Cys1196Arg	p.C1196R	ENST00000304636	NM_000090.3	1196	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS2297.1	3586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTTGCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	48/51	.	.	.	.	.	.	.	.	.	48/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Cys893Arg,ENST00000317840,;COL3A1,missense_variant,p.Cys1196Arg,ENST00000304636,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;	3756	122	160	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209195391	209195391	+	synonymous_variant	Silent	SNP	A	A	G	rs767932394	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	83	0	ENST00000264380.4:c.3936A>G	p.Thr1312=	p.T1312=	ENST00000264380	NM_015040.3	1312	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2382.1	3936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACATATTC	NONE	.	.	hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	.	.	ENSP00000264380	.	23/42	.	.	.	.	.	.	.	.	rs767932394	23/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,synonymous_variant,p.%3D,ENST00000452564,;PIKFYVE,synonymous_variant,p.%3D,ENST00000264380,;PIKFYVE,upstream_gene_variant,,ENST00000474721,;PIKFYVE,downstream_gene_variant,,ENST00000443896,;	4094	83	70	SUCCESS
CENPA	1058	.	GRCh37	2	27015082	27015082	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	84	0	ENST00000335756.4:c.184A>G	p.Ile62Val	p.I62V	ENST00000335756	NM_001809.3	62	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1729.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGATAAGG	NONE	.	.	hmmpanther:PTHR11426:SF26,hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000336868	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000335756	Transcript	.	.	ENSG00000115163	1851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	deleterious(0.04)	.	CENPA_HUMAN	CENPA	HGNC	.	.	UPI00001274F6	SNV	CENPA,missense_variant,p.Ile62Val,ENST00000335756,;CENPA,missense_variant,p.Ile62Val,ENST00000233505,;CENPA,non_coding_transcript_exon_variant,,ENST00000472719,;CENPA,non_coding_transcript_exon_variant,,ENST00000460030,;CENPA,non_coding_transcript_exon_variant,,ENST00000475662,;CENPA,missense_variant,p.Ile62Val,ENST00000419525,;	384	84	83	SUCCESS
ID2	3398	.	GRCh37	2	8822192	8822192	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	12	0	ENST00000234091.4:c.-104A>C		p.*35*	ENST00000234091				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1659.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGAGCCGA	NONE	.	.	.	.	.	ENSP00000234091	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000234091	Transcript	.	.	ENSG00000115738	5361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID2_HUMAN	ID2	HGNC	Q53T66_HUMAN	.	UPI00000012EE	SNV	ID2,5_prime_UTR_variant,,ENST00000331129,;ID2,5_prime_UTR_variant,,ENST00000396290,;ID2,5_prime_UTR_variant,,ENST00000234091,;AC011747.7,upstream_gene_variant,,ENST00000418957,;AC011747.7,upstream_gene_variant,,ENST00000433592,;AC011747.7,upstream_gene_variant,,ENST00000455965,;AC011747.7,upstream_gene_variant,,ENST00000421298,;AC011747.7,upstream_gene_variant,,ENST00000433340,;AC011747.7,upstream_gene_variant,,ENST00000412712,;ID2,upstream_gene_variant,,ENST00000472142,;	757	12	16	SUCCESS
KIAA2018	0	.	GRCh37	3	113376412	113376412	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	71	0	ENST00000316407.4:c.4117A>G	p.Met1373Val	p.M1373V	ENST00000316407	NM_001009899.2	1373	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS43133.1	4117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATTTGAG	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF2	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,missense_variant,p.Met1373Val,ENST00000478658,;KIAA2018,missense_variant,p.Met1373Val,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	4528	71	76	SUCCESS
COL6A5	256076	.	GRCh37	3	130159279	130159279	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	5	125	0	ENST00000312481.7:c.6097A>G	p.Ile2033Val	p.I2033V	ENST00000312481		2033	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	6097	MUTECT|MUSE	.	ATTTCATCACT	NONE	.	.	PROSITE_profiles:PS50234,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	35/42	.	.	.	.	.	.	.	.	.	35/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.34)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Ile2033Val,ENST00000432398,;COL6A5,missense_variant,p.Ile285Val,ENST00000512836,;COL6A5,missense_variant,p.Ile2033Val,ENST00000265379,;COL6A5,upstream_gene_variant,,ENST00000512482,;COL6A5,upstream_gene_variant,,ENST00000373157,;COL6A5,missense_variant,p.Ile2033Val,ENST00000312481,;	6591	125	116	SUCCESS
CP	1356	.	GRCh37	3	148939588	148939588	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs781381504	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	67	198	0	ENST00000264613.6:c.-9G>A		p.*3*	ENST00000264613	NM_000096.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3141.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCCTTCT	BUFFER|p.?|c.1delA|4	.	.	.	.	.	ENSP00000264613	.	1/19	.	.	.	.	.	.	.	.	rs781381504	1/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,5_prime_UTR_variant,,ENST00000455472,;CP,5_prime_UTR_variant,,ENST00000264613,;CP,5_prime_UTR_variant,,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;	255	198	189	SUCCESS
GFM1	85476	.	GRCh37	3	158363556	158363556	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs140377587	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	108	0	ENST00000486715.1:c.220G>C	p.Ala74Pro	p.A74P	ENST00000486715	NM_024996.5	74	Gca/Cca	0	T:0.0057	T:0.0045	.	T:0.0014	.	C	A/P	protein_coding	YES	CCDS33885.1	220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTGCAAAG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00484,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00009,Gene3D:3.40.50.300,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF66,HAMAP:MF_00054_B	T:0	T:0	ENSP00000419038	T:0	2/18	.	.	.	.	.	.	.	.	rs140377587	2/18	PASS	ENST00000486715	Transcript	.	T:0.0014	ENSG00000168827	13780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	T:0	tolerated(0.12)	.	EFGM_HUMAN	GFM1	HGNC	E5KND5_HUMAN,C9JA25_HUMAN	.	UPI000006232D	SNV	GFM1,missense_variant,p.Ala74Pro,ENST00000264263,;GFM1,missense_variant,p.Ala74Pro,ENST00000478576,;GFM1,missense_variant,p.Ala74Pro,ENST00000486715,;GFM1,5_prime_UTR_variant,,ENST00000464732,;LXN,downstream_gene_variant,,ENST00000482640,;GFM1,missense_variant,p.Ala74Pro,ENST00000478254,;GFM1,upstream_gene_variant,,ENST00000478251,;	577	108	102	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64132537	64132537	+	synonymous_variant	Silent	SNP	G	G	T	rs1265373042	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	55	0	ENST00000295902.6:c.1629C>A	p.Ser543=	p.S543=	ENST00000295902	NM_198859.3	543	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2902.1	1629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGGAGCC	NONE	.	.	hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218	.	.	ENSP00000295902	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,synonymous_variant,p.%3D,ENST00000295902,;PRICKLE2,synonymous_variant,p.%3D,ENST00000564377,;	2215	55	57	SUCCESS
C3orf38	285237	.	GRCh37	3	88199099	88199099	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	18	0	ENST00000318887.3:c.-104G>C		p.*35*	ENST00000318887	NM_173824.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2921.2	.	MUTECT|MUSE	.	TCGACGGAGAA	NONE	.	.	.	.	.	ENSP00000322469	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000318887	Transcript	.	.	ENSG00000179021	28384	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC038_HUMAN	C3orf38	HGNC	D3DU39_HUMAN	.	UPI000004D308	SNV	C3orf38,5_prime_UTR_variant,,ENST00000318887,;C3orf38,upstream_gene_variant,,ENST00000486971,;CGGBP1,upstream_gene_variant,,ENST00000462901,;CGGBP1,upstream_gene_variant,,ENST00000467332,;C3orf38,upstream_gene_variant,,ENST00000464919,;	207	18	23	SUCCESS
ADH4	127	.	GRCh37	4	100057655	100057655	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	66	0	ENST00000265512.7:c.544T>G	p.Phe182Val	p.F182V	ENST00000265512	NM_000670.3	182	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS34032.1	544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAACCCAC	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129,Superfamily_domains:SSF51735	.	.	ENSP00000265512	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000265512	Transcript	.	.	ENSG00000198099	252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.72)	.	ADH4_HUMAN	ADH4	HGNC	.	.	UPI00001AE8DE	SNV	ADH4,missense_variant,p.Phe182Val,ENST00000265512,;ADH4,missense_variant,p.Phe164Val,ENST00000504125,;ADH4,missense_variant,p.Phe201Val,ENST00000423445,;ADH4,missense_variant,p.Phe201Val,ENST00000508393,;ADH4,missense_variant,p.Phe201Val,ENST00000505590,;ADH4,missense_variant,p.Phe201Val,ENST00000512499,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,downstream_gene_variant,,ENST00000503944,;ADH4,missense_variant,p.Phe12Val,ENST00000509471,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,non_coding_transcript_exon_variant,,ENST00000503416,;ADH4,downstream_gene_variant,,ENST00000504894,;	619	66	74	SUCCESS
NUDT6	11162	.	GRCh37	4	123814266	123814266	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775987914	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	49	0	ENST00000304430.5:c.668T>C	p.Met223Thr	p.M223T	ENST00000304430	NM_007083.4	223	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS43268.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACATATCT	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR13994,hmmpanther:PTHR13994:SF8,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000306070	.	5/5	.	.	.	.	.	.	.	.	rs775987914	5/5	PASS	ENST00000304430	Transcript	.	.	ENSG00000170917	8053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	NUDT6_HUMAN	NUDT6	HGNC	.	.	UPI00001308E2	SNV	NUDT6,missense_variant,p.Met223Thr,ENST00000304430,;NUDT6,missense_variant,p.Met54Thr,ENST00000502270,;NUDT6,missense_variant,p.Met54Thr,ENST00000339154,;NUDT6,3_prime_UTR_variant,,ENST00000510735,;FGF2,3_prime_UTR_variant,,ENST00000608478,;FGF2,3_prime_UTR_variant,,ENST00000264498,;NUDT6,upstream_gene_variant,,ENST00000608639,;NUDT6,3_prime_UTR_variant,,ENST00000503370,;NUDT6,3_prime_UTR_variant,,ENST00000512116,;NUDT6,downstream_gene_variant,,ENST00000513517,;	702	49	61	SUCCESS
RAB28	9364	.	GRCh37	4	13485895	13485895	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	60	0	ENST00000330852.5:c.-121G>T		p.*41*	ENST00000330852	NM_001017979.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33961.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCGCGCC	NONE	.	.	.	.	.	ENSP00000328551	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000330852	Transcript	1	.	ENSG00000157869	9768	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB28_HUMAN	RAB28	HGNC	.	.	UPI00000741FF	SNV	RAB28,5_prime_UTR_variant,,ENST00000288723,;RAB28,5_prime_UTR_variant,,ENST00000330852,;RAB28,5_prime_UTR_variant,,ENST00000338176,;RAB28,5_prime_UTR_variant,,ENST00000508274,;	95	60	42	SUCCESS
FGA	2243	.	GRCh37	4	155507834	155507834	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	95	0	ENST00000302053.3:c.747G>C	p.Lys249Asn	p.K249N	ENST00000302053	NM_000508.3	249	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS3787.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCTTCCA	NONE	.	.	hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.15)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Lys249Asn,ENST00000302053,;FGA,missense_variant,p.Lys249Asn,ENST00000403106,;	826	95	99	SUCCESS
KIT	3815	.	GRCh37	4	55524107	55524114	+	5_prime_UTR_variant	5'UTR	DEL	GCTTTGCC	GCTTTGCC	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	GCTTTGCC	GCTTTGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	31	0	ENST00000288135.5:c.-73_-66del		p.*25*	ENST00000288135	NM_000222.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3496.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTCGGCTTTGCCGCGCT	NONE	.	.	.	.	.	ENSP00000288135	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	deletion	KIT,5_prime_UTR_variant,,ENST00000412167,;KIT,5_prime_UTR_variant,,ENST00000288135,;KIT,non_coding_transcript_exon_variant,,ENST00000514582,;	23-30	31	39	SUCCESS
KIAA1211	0	.	GRCh37	4	57173769	57173769	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	83	0	ENST00000504228.1:c.189C>T	p.Asn63=	p.N63=	ENST00000504228		63	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS43230.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAACAGTGG	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350,Pfam_domain:PF15262	.	.	ENSP00000423366	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,synonymous_variant,p.%3D,ENST00000504228,;KIAA1211,synonymous_variant,p.%3D,ENST00000264229,;KIAA1211,synonymous_variant,p.%3D,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000505410,;KIAA1211,downstream_gene_variant,,ENST00000503618,;	294	83	98	SUCCESS
LPHN3	0	.	GRCh37	4	62845284	62845284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	108	0	ENST00000514591.1:c.2605A>G	p.Ser869Gly	p.S869G	ENST00000514591		869	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS54768.1	2605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGTGAT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60	.	.	ENSP00000422533	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.54)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Ser937Gly,ENST00000507625,;LPHN3,missense_variant,p.Ser869Gly,ENST00000508946,;LPHN3,missense_variant,p.Ser869Gly,ENST00000506700,;LPHN3,missense_variant,p.Ser327Gly,ENST00000502815,;LPHN3,missense_variant,p.Ser937Gly,ENST00000509896,;LPHN3,missense_variant,p.Ser937Gly,ENST00000511324,;LPHN3,missense_variant,p.Ser869Gly,ENST00000545650,;LPHN3,missense_variant,p.Ser937Gly,ENST00000506720,;LPHN3,missense_variant,p.Ser869Gly,ENST00000504896,;LPHN3,missense_variant,p.Ser869Gly,ENST00000514591,;LPHN3,missense_variant,p.Ser937Gly,ENST00000508693,;LPHN3,missense_variant,p.Ser937Gly,ENST00000506746,;LPHN3,missense_variant,p.Ser869Gly,ENST00000514996,;LPHN3,missense_variant,p.Ser869Gly,ENST00000512091,;LPHN3,missense_variant,p.Ser869Gly,ENST00000514157,;LPHN3,missense_variant,p.Ser937Gly,ENST00000507164,;	2934	108	108	SUCCESS
TMPRSS11D	9407	.	GRCh37	4	68703989	68703989	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748421401	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	86	0	ENST00000283916.6:c.376A>G	p.Asn126Asp	p.N126D	ENST00000283916	NM_004262.2	126	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS3518.1	376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTTATTTC	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24256:SF36,hmmpanther:PTHR24256,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452	.	.	ENSP00000283916	.	5/10	.	.	.	.	.	.	.	.	rs748421401	5/10	PASS	ENST00000283916	Transcript	.	.	ENSG00000153802	24059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.94)	.	TM11D_HUMAN	TMPRSS11D	HGNC	Q4W5K4_HUMAN,B4DL57_HUMAN	.	UPI000003FE66	SNV	TMPRSS11D,missense_variant,p.Asn9Asp,ENST00000545541,;TMPRSS11D,missense_variant,p.Asn126Asp,ENST00000283916,;TMPRSS11D,upstream_gene_variant,,ENST00000514868,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000511931,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502573,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000508409,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000509584,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502822,;TMPRSS11D,upstream_gene_variant,,ENST00000505533,;	475	86	105	SUCCESS
ALB	213	.	GRCh37	4	74286009	74286012	+	frameshift_variant	Frame_Shift_Del	DEL	CTTA	CTTA	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	CTTA	CTTA	.	.	.	.	.	.	.	.	.	.	.	.	.	98	68	163	0	ENST00000295897.4:c.1824_1827del	p.Leu609AsnfsTer33	p.L609Nfs*33	ENST00000295897	NM_000477.5	608	ggCTTA/gg	0	.	.	.	.	.	-	GL/X	protein_coding	YES	CCDS3555.1	1824-1827	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTAGGCTTATAACA	NONE	.	.	hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PIRSF_domain:PIRSF002520	.	.	ENSP00000295897	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Leu454AsnfsTer33,ENST00000511370,;ALB,frameshift_variant,p.Leu417AsnfsTer33,ENST00000415165,;ALB,frameshift_variant,p.Leu609AsnfsTer33,ENST00000295897,;ALB,frameshift_variant,p.Leu459AsnfsTer33,ENST00000503124,;ALB,frameshift_variant,p.Leu494AsnfsTer33,ENST00000401494,;ALB,intron_variant,,ENST00000509063,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1913-1916	163	166	SUCCESS
CTNNA1	1495	.	GRCh37	5	138269736	138269736	+	synonymous_variant	Silent	SNP	G	G	A	rs1059181	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	43	32	0	ENST00000302763.7:c.2679G>A	p.Pro893=	p.P893=	ENST00000302763	NM_001903.2	893	ccG/ccA	0	C:0	.	.	.	.	A	P	protein_coding	YES	CCDS34243.1	2679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGGTGCA	BUFFER|p.V891M|c.2671G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24	.	C:0.0001	ENSP00000304669	.	18/18	.	.	.	.	.	.	.	.	rs1059181	18/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,synonymous_variant,p.%3D,ENST00000540387,;CTNNA1,synonymous_variant,p.%3D,ENST00000302763,;CTNNA1,synonymous_variant,p.%3D,ENST00000520520,;CTNNA1,synonymous_variant,p.%3D,ENST00000355078,;CTNNA1,3_prime_UTR_variant,,ENST00000518825,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000522792,;CTNNA1,downstream_gene_variant,,ENST00000521368,;CTNNA1,downstream_gene_variant,,ENST00000521387,;	2769	32	69	SUCCESS
DNAH5	1767	.	GRCh37	5	13876819	13876819	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	63	156	0	ENST00000265104.4:c.3370A>T	p.Ser1124Cys	p.S1124C	ENST00000265104	NM_001369.2	1124	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS3882.1	3370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTAAGCA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	22/79	.	.	.	.	.	.	.	.	.	22/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Ser1124Cys,ENST00000265104,;CTB-51A17.1,intron_variant,,ENST00000503244,;	3475	156	135	SUCCESS
PCDHA13	56136	.	GRCh37	5	140262783	140262783	+	synonymous_variant	Silent	SNP	C	C	T	rs145698462	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	103	129	0	ENST00000289272.2:c.930C>T	p.Phe310=	p.F310=	ENST00000289272	NM_018904.2	310	ttC/ttT	0	A:0	.	.	.	.	T	F	protein_coding	YES	CCDS4240.1	930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCGAAGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	A:0.0001	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	rs145698462,COSM3241264	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,synonymous_variant,p.%3D,ENST00000289272,;PCDHA13,synonymous_variant,p.%3D,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	930	129	171	SUCCESS
NMUR2	56923	.	GRCh37	5	151784456	151784456	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	56	111	0	ENST00000255262.3:c.219C>T	p.His73=	p.H73=	ENST00000255262	NM_020167.4	73	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS4321.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGTGCTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01565	.	.	ENSP00000255262	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,synonymous_variant,p.%3D,ENST00000255262,;NMUR2,intron_variant,,ENST00000518933,;	385	111	176	SUCCESS
C5orf42	0	.	GRCh37	5	37213755	37213755	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	156	364	1	ENST00000425232.2:c.2826G>T	p.Met942Ile	p.M942I	ENST00000425232	NM_023073.3	942	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34146.2	2826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCCATGGA	NONE	.	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	.	ENSP00000389014	.	16/52	.	.	.	.	.	.	.	.	.	16/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,missense_variant,p.Met942Ile,ENST00000508244,;C5orf42,missense_variant,p.Met942Ile,ENST00000425232,;C5orf42,5_prime_UTR_variant,,ENST00000274258,;C5orf42,upstream_gene_variant,,ENST00000514429,;C5orf42,upstream_gene_variant,,ENST00000509849,;OFD1P17,downstream_gene_variant,,ENST00000437639,;	3057	365	389	SUCCESS
MAST4	375449	.	GRCh37	5	66430370	66430370	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	97	0	ENST00000403625.2:c.2246A>G	p.Tyr749Cys	p.Y749C	ENST00000403625	NM_001164664.1	749	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS54861.1	2246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATACATTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139,PROSITE_profiles:PS50011	.	.	ENSP00000385727	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Tyr560Cys,ENST00000403666,;MAST4,missense_variant,p.Tyr752Cys,ENST00000404260,;MAST4,missense_variant,p.Tyr555Cys,ENST00000261569,;MAST4,missense_variant,p.Tyr570Cys,ENST00000405643,;MAST4,missense_variant,p.Tyr749Cys,ENST00000403625,;	2541	97	95	SUCCESS
CRHBP	1393	.	GRCh37	5	76254694	76254694	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748736594	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	46	0	ENST00000274368.4:c.673G>A	p.Val225Ile	p.V225I	ENST00000274368	NM_001882.3	225	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS4034.1	673	MUTECT|MUSE|VARSCANS	.	GACACGTAAAT	NONE	byFrequency	.	hmmpanther:PTHR10278:SF0,hmmpanther:PTHR10278,Pfam_domain:PF05428,PIRSF_domain:PIRSF009279	.	.	ENSP00000274368	.	5/7	.	.	.	.	.	.	.	.	rs748736594	5/7	PASS	ENST00000274368	Transcript	.	.	ENSG00000145708	2356	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.38)	.	CRHBP_HUMAN	CRHBP	HGNC	.	.	UPI0000001053	SNV	CRHBP,missense_variant,p.Val225Ile,ENST00000506501,;CRHBP,missense_variant,p.Val225Ile,ENST00000274368,;CRHBP,non_coding_transcript_exon_variant,,ENST00000514258,;CRHBP,downstream_gene_variant,,ENST00000512446,;CRHBP,upstream_gene_variant,,ENST00000503763,;	1095	46	94	SUCCESS
POM121L2	94026	.	GRCh37	6	27277615	27277615	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	121	0	ENST00000444565.1:c.2335A>G	p.Thr779Ala	p.T779A	ENST00000444565	NM_033482.3	779	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59497.1	2335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGTGGCAC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	.	.	ENSP00000392726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444565	Transcript	.	.	ENSG00000158553	13973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.41)	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,missense_variant,p.Thr779Ala,ENST00000444565,;POM121L2,missense_variant,p.Thr715Ala,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;	2335	121	99	SUCCESS
BMP5	653	.	GRCh37	6	55739686	55739686	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs377197658	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	50	130	0	ENST00000370830.3:c.-23T>C		p.*8*	ENST00000370830	NM_021073.2			0	G:0.0002	.	.	.	.	G	.	protein_coding	YES	CCDS4958.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGATATTT	NONE	byCluster	.	.	.	G:0	ENSP00000359866	.	1/7	.	.	.	.	.	.	.	.	rs377197658	1/7	PASS	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,5_prime_UTR_variant,,ENST00000370830,;BMP5,upstream_gene_variant,,ENST00000446683,;	677	131	118	SUCCESS
LMBR1	64327	.	GRCh37	7	156555801	156555801	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	208	258	0	ENST00000353442.5:c.619+1G>T		p.X207_splice	ENST00000353442	NM_022458.3	207		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5945.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACAGAGA	NONE	.	.	.	.	.	ENSP00000326604	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353442	Transcript	.	.	ENSG00000105983	13243	.	.	HIGH	7/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMBR1_HUMAN	LMBR1	HGNC	Q7LDY5_HUMAN	.	UPI000005340E	SNV	LMBR1,splice_donor_variant,,ENST00000359422,;LMBR1,splice_donor_variant,,ENST00000540390,;LMBR1,splice_donor_variant,,ENST00000415428,;LMBR1,splice_donor_variant,,ENST00000353442,;LMBR1,splice_donor_variant,,ENST00000354505,;LMBR1,downstream_gene_variant,,ENST00000461469,;LMBR1,downstream_gene_variant,,ENST00000430278,;LMBR1,splice_donor_variant,,ENST00000448926,;LMBR1,splice_donor_variant,,ENST00000454132,;LMBR1,splice_donor_variant,,ENST00000434503,;LMBR1,splice_donor_variant,,ENST00000477983,;LMBR1,downstream_gene_variant,,ENST00000434278,;LMBR1,downstream_gene_variant,,ENST00000444719,;	.	258	409	SUCCESS
DNAH11	8701	.	GRCh37	7	21847599	21847599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764509824	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	78	87	1	ENST00000409508.3:c.10264G>A	p.Gly3422Arg	p.G3422R	ENST00000409508	NM_001277115.1	3422	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	.	10285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCGGACCC	NONE	byFrequency	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000330671	.	64/83	.	.	.	.	.	.	.	.	rs764509824	64/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,missense_variant,p.Gly3429Arg,ENST00000328843,;DNAH11,missense_variant,p.Gly3422Arg,ENST00000409508,;	10316	88	157	SUCCESS
PPP1R17	10842	.	GRCh37	7	31735231	31735231	+	synonymous_variant	Silent	SNP	A	A	T	rs367575540	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	113	100	0	ENST00000342032.3:c.231A>T	p.Ile77=	p.I77=	ENST00000342032	NM_006658.4	77	atA/atT	0	G:0.0002	.	.	.	.	T	I	protein_coding	YES	CCDS5436.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATACCAGG	NONE	.	.	hmmpanther:PTHR15387:SF0,hmmpanther:PTHR15387	.	G:0	ENSP00000340125	.	3/5	.	.	.	.	.	.	.	.	rs367575540	3/5	PASS	ENST00000342032	Transcript	.	.	ENSG00000106341	16973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR17_HUMAN	PPP1R17	HGNC	.	.	UPI000006D182	SNV	PPP1R17,synonymous_variant,p.%3D,ENST00000342032,;PPP1R17,intron_variant,,ENST00000409146,;PPP1R17,upstream_gene_variant,,ENST00000498609,;	859	100	202	SUCCESS
TBX20	57057	.	GRCh37	7	35288373	35288373	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs112862467	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	92	100	0	ENST00000408931.3:c.461C>T	p.Pro154Leu	p.P154L	ENST00000408931	NM_001077653.2	154	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS43568.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGGGACG	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000386170	.	3/8	.	.	.	.	.	.	.	.	rs112862467	3/8	PASS	ENST00000408931	Transcript	.	.	ENSG00000164532	11598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0.01)	.	TBX20_HUMAN	TBX20	HGNC	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN	.	UPI00004B23D3	SNV	TBX20,missense_variant,p.Pro154Leu,ENST00000408931,;TBX20,non_coding_transcript_exon_variant,,ENST00000492961,;	988	100	169	SUCCESS
ZNF713	349075	.	GRCh37	7	55990926	55990926	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs780297269	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	73	0	ENST00000429591.2:c.120A>T	p.Gln40His	p.Q40H	ENST00000429591	NM_182633.1	40	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	.	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAAAAGAA	NONE	byFrequency	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,PROSITE_profiles:PS50805	.	.	ENSP00000390331	.	5/8	.	.	.	.	.	.	.	.	rs780297269	5/8	PASS	ENST00000426595	Transcript	.	.	ENSG00000249773	14047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	.	MRPS17	Uniprot_gn	Q96Q59_HUMAN,I3L0E3_HUMAN,E9PE17_HUMAN	.	UPI000020FC5A	SNV	MRPS17,missense_variant,p.Gln40His,ENST00000426595,;ZNF713,missense_variant,p.Gln40His,ENST00000429591,;ZNF713,non_coding_transcript_exon_variant,,ENST00000482436,;ZNF713,3_prime_UTR_variant,,ENST00000411863,;ZNF713,non_coding_transcript_exon_variant,,ENST00000466630,;	1113	73	91	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72419537	72419537	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	89	117	0	ENST00000388955.4:n.1242A>C		p.*414*	ENST00000388955				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59059.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGTGAGCG	NONE	.	.	.	.	.	ENSP00000378687	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,3_prime_UTR_variant,,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000446813,;POM121,downstream_gene_variant,,ENST00000257622,;POM121,downstream_gene_variant,,ENST00000434423,;POM121,downstream_gene_variant,,ENST00000358357,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000388955,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000602348,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000444583,;NSUN5P2,intron_variant,,ENST00000485741,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000457352,;	4569	117	110	SUCCESS
SLC25A13	10165	.	GRCh37	7	95820436	95820436	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	39	44	0	ENST00000265631.5:c.739G>T	p.Val247Phe	p.V247F	ENST00000265631		247	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS55130.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACATCTT	NONE	.	.	Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000400101	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000416240	Transcript	.	.	ENSG00000004864	10983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.55)	.	CMC2_HUMAN	SLC25A13	HGNC	Q75KX8_HUMAN	.	UPI0000001663	SNV	SLC25A13,missense_variant,p.Val247Phe,ENST00000265631,;SLC25A13,missense_variant,p.Val139Phe,ENST00000542654,;SLC25A13,missense_variant,p.Val247Phe,ENST00000416240,;SLC25A13,upstream_gene_variant,,ENST00000484495,;SLC25A13,downstream_gene_variant,,ENST00000472162,;	930	44	45	SUCCESS
SLC25A32	81034	.	GRCh37	8	104415462	104415462	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765449167	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	99	0	ENST00000297578.4:c.482G>T	p.Arg161Leu	p.R161L	ENST00000297578	NM_030780.4	161	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS6300.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTCGGTGT	NONE	byFrequency	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF62,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000297578	.	4/7	.	.	.	.	.	.	.	.	rs765449167,COSM3884277	4/7	PASS	ENST00000297578	Transcript	.	.	ENSG00000164933	29683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.44)	.	tolerated(0.21)	0,1	MFTC_HUMAN	SLC25A32	HGNC	B4DUQ5_HUMAN	.	UPI0000040C0F	SNV	SLC25A32,missense_variant,p.Arg29Leu,ENST00000543107,;SLC25A32,missense_variant,p.Arg161Leu,ENST00000297578,;SLC25A32,upstream_gene_variant,,ENST00000523701,;SLC25A32,3_prime_UTR_variant,,ENST00000523866,;SLC25A32,intron_variant,,ENST00000521645,;SLC25A32,intron_variant,,ENST00000523256,;	649	99	127	SUCCESS
MIR383	494332	.	GRCh37	8	14711017	14711017	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	24	64	0	ENST00000362257.1:n.3C>T		p.*1*	ENST00000362257				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5992.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGAGCAG	NONE	.	.	.	.	.	ENSP00000371512	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382080	Transcript	.	.	ENSG00000185053	14075	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGCZ_HUMAN	SGCZ	HGNC	.	.	UPI00002339F6	SNV	SGCZ,intron_variant,,ENST00000382080,;MIR383,non_coding_transcript_exon_variant,,ENST00000362257,;	.	64	36	SUCCESS
SMIM19	114926	.	GRCh37	8	42401693	42401693	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	115	0	ENST00000414154.2:c.78C>G	p.Thr26=	p.T26=	ENST00000414154	NM_138436.3	26	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS6133.2	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCAATGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31888:SF1,hmmpanther:PTHR31888,Pfam_domain:PF15117	.	.	ENSP00000391549	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000438528	Transcript	.	.	ENSG00000176209	25166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMI19_HUMAN	SMIM19	HGNC	E5RKA7_HUMAN	.	UPI00002109C4	SNV	SMIM19,synonymous_variant,p.%3D,ENST00000414154,;SMIM19,synonymous_variant,p.%3D,ENST00000416469,;SMIM19,synonymous_variant,p.%3D,ENST00000490331,;SMIM19,synonymous_variant,p.%3D,ENST00000417410,;SMIM19,synonymous_variant,p.%3D,ENST00000438528,;SMIM19,intron_variant,,ENST00000518574,;SLC20A2,upstream_gene_variant,,ENST00000518384,;SLC20A2,upstream_gene_variant,,ENST00000342228,;SMIM19,non_coding_transcript_exon_variant,,ENST00000529505,;SLC20A2,upstream_gene_variant,,ENST00000524237,;SMIM19,synonymous_variant,p.%3D,ENST00000498447,;	127	115	101	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70591797	70591797	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	33	80	0	ENST00000260126.4:c.1840A>T	p.Thr614Ser	p.T614S	ENST00000260126	NM_030958.2	614	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS6205.1	1840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGTGGGTG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF86,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137	.	.	ENSP00000260126	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.29)	.	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,missense_variant,p.Thr559Ser,ENST00000530307,;SLCO5A1,missense_variant,p.Thr614Ser,ENST00000524945,;SLCO5A1,missense_variant,p.Thr614Ser,ENST00000260126,;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	2547	80	143	SUCCESS
CRISPLD1	83690	.	GRCh37	8	75932274	75932274	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	43	112	0	ENST00000262207.4:c.1204C>T	p.Gln402Ter	p.Q402*	ENST00000262207	NM_031461.5	402	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6219.1	1204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACAGCTC	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR10334:SF73,hmmpanther:PTHR10334,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000262207	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000262207	Transcript	.	.	ENSG00000121005	18206	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRLD1_HUMAN	CRISPLD1	HGNC	E5RJS4_HUMAN,B7Z8V9_HUMAN	.	UPI00000422F5	SNV	CRISPLD1,stop_gained,p.Gln402Ter,ENST00000262207,;CRISPLD1,stop_gained,p.Gln216Ter,ENST00000517786,;CRISPLD1,stop_gained,p.Gln214Ter,ENST00000523524,;	1672	112	142	SUCCESS
RUNX1T1	862	.	GRCh37	8	93029765	93029765	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	16	0	ENST00000265814.3:c.89-174T>A		p.*30*	ENST00000265814	NM_001198628.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56544.1	.	MUTECT|MUSE	.	ACTTAAGAAGG	NONE	.	.	.	.	.	ENSP00000402257	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,5_prime_UTR_variant,,ENST00000422361,;RUNX1T1,intron_variant,,ENST00000518317,;RUNX1T1,intron_variant,,ENST00000523168,;RUNX1T1,intron_variant,,ENST00000517792,;RUNX1T1,intron_variant,,ENST00000520583,;RUNX1T1,intron_variant,,ENST00000518832,;RUNX1T1,intron_variant,,ENST00000522467,;RUNX1T1,intron_variant,,ENST00000521319,;RUNX1T1,intron_variant,,ENST00000436581,;RUNX1T1,intron_variant,,ENST00000518954,;RUNX1T1,intron_variant,,ENST00000360348,;RUNX1T1,intron_variant,,ENST00000518823,;RUNX1T1,intron_variant,,ENST00000519061,;RUNX1T1,intron_variant,,ENST00000520974,;RUNX1T1,intron_variant,,ENST00000521733,;RUNX1T1,intron_variant,,ENST00000518844,;RUNX1T1,intron_variant,,ENST00000523629,;RUNX1T1,intron_variant,,ENST00000520724,;RUNX1T1,intron_variant,,ENST00000520428,;RUNX1T1,intron_variant,,ENST00000517919,;RUNX1T1,intron_variant,,ENST00000519847,;RUNX1T1,intron_variant,,ENST00000518992,;RUNX1T1,intron_variant,,ENST00000265814,;RUNX1T1,intron_variant,,ENST00000521054,;RUNX1T1,intron_variant,,ENST00000520556,;RUNX1T1,intron_variant,,ENST00000521375,;RUNX1T1,intron_variant,,ENST00000396218,;RUNX1T1,upstream_gene_variant,,ENST00000521553,;RUNX1T1,intron_variant,,ENST00000520172,;RUNX1T1,intron_variant,,ENST00000522860,;RUNX1T1,intron_variant,,ENST00000522065,;RUNX1T1,intron_variant,,ENST00000522163,;RUNX1T1,intron_variant,,ENST00000518256,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,intron_variant,,ENST00000517493,;RUNX1T1,intron_variant,,ENST00000521897,;RUNX1T1,intron_variant,,ENST00000519422,;RUNX1T1,intron_variant,,ENST00000524215,;RUNX1T1,intron_variant,,ENST00000519577,;RUNX1T1,intron_variant,,ENST00000523290,;RUNX1T1,intron_variant,,ENST00000521902,;	.	16	22	SUCCESS
ABCA1	19	.	GRCh37	9	107623868	107623868	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	19	0	ENST00000374736.3:c.543+92A>T		p.*181*	ENST00000374736	NM_005502.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6762.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACCATTACAA	NONE	.	.	.	.	.	ENSP00000363868	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODIFIER	6/49	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,3_prime_UTR_variant,,ENST00000374733,;ABCA1,intron_variant,,ENST00000374736,;ABCA1,intron_variant,,ENST00000423487,;	.	19	17	SUCCESS
SLC2A6	11182	.	GRCh37	9	136338644	136338644	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	120	0	ENST00000371899.4:c.1115C>G	p.Thr372Ser	p.T372S	ENST00000371899	NM_017585.3	372	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS6975.1	1115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGTGCTG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20	.	.	ENSP00000360966	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000371899	Transcript	.	.	ENSG00000160326	11011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated(0.38)	.	GTR6_HUMAN	SLC2A6	HGNC	.	.	UPI0000001BE8	SNV	SLC2A6,missense_variant,p.Thr372Ser,ENST00000371899,;SLC2A6,intron_variant,,ENST00000371897,;SLC2A6,downstream_gene_variant,,ENST00000414172,;SLC2A6,downstream_gene_variant,,ENST00000432868,;CACFD1,downstream_gene_variant,,ENST00000540581,;CACFD1,downstream_gene_variant,,ENST00000291722,;CACFD1,downstream_gene_variant,,ENST00000542192,;CACFD1,downstream_gene_variant,,ENST00000316948,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;CACFD1,downstream_gene_variant,,ENST00000474734,;	1193	120	101	SUCCESS
DDX58	23586	.	GRCh37	9	32457126	32457126	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	66	0	ENST00000379883.2:c.2772C>A	p.Ser924=	p.S924=	ENST00000379883	NM_014314.3	924	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6526.1	2772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGGACAT	NONE	.	.	hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16,Pfam_domain:PF11648	.	.	ENSP00000369213	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000379883	Transcript	.	.	ENSG00000107201	19102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX58_HUMAN	DDX58	HGNC	A2A376_HUMAN	.	UPI000013C841	SNV	DDX58,synonymous_variant,p.%3D,ENST00000542096,;DDX58,synonymous_variant,p.%3D,ENST00000379883,;DDX58,synonymous_variant,p.%3D,ENST00000379868,;DDX58,synonymous_variant,p.%3D,ENST00000379882,;ACO1,downstream_gene_variant,,ENST00000309951,;	2930	66	78	SUCCESS
TCEANC	170082	.	GRCh37	X	13680785	13680786	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	105	73	87	0	ENST00000380600.1:c.159_160del	p.Tyr53Ter	p.Y53*	ENST00000380600		53	tAC/t	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS48081.1	248-249	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTGTACAGAGT	NONE	.	.	Superfamily_domains:SSF47676,PIRSF_domain:PIRSF006704,Gene3D:1.20.930.10,Pfam_domain:PF08711,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF7,PROSITE_profiles:PS51319	.	.	ENSP00000313886	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314720	Transcript	.	.	ENSG00000176896	28277	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEANC_HUMAN	TCEANC	HGNC	.	.	UPI0001596C51	deletion	TCEANC,frameshift_variant,p.Tyr53Ter,ENST00000545566,;TCEANC,frameshift_variant,p.Tyr53Ter,ENST00000380600,;TCEANC,frameshift_variant,p.Tyr83Ter,ENST00000314720,;TCEANC,frameshift_variant,p.Tyr53Ter,ENST00000544987,;TCEANC,non_coding_transcript_exon_variant,,ENST00000490617,;TCEANC,upstream_gene_variant,,ENST00000463321,;TCEANC,upstream_gene_variant,,ENST00000467590,;	493-494	87	178	SUCCESS
FANCB	2187	.	GRCh37	X	14863073	14863093	+	frameshift_variant	Frame_Shift_Del	DEL	TTAGGACAGTTACCACTTTCT	TTAGGACAGTTACCACTTTCT	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	TTAGGACAGTTACCACTTTCT	TTAGGACAGTTACCACTTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	48	82	183	0	ENST00000324138.3:c.1812_1832delinsG	p.Glu605ArgfsTer46	p.E605Rfs*46	ENST00000324138	NM_152633.2	604	agAGAAAGTGGTAACTGTCCTAAa/agGa	0	.	.	.	.	.	C	RESGNCPK/RX	protein_coding	YES	CCDS14161.1	1812-1832	INDELOCATOR*|PINDEL	.	CGATCTTTAGGACAGTTACCACTTTCTCTCTC	NONE	.	.	.	.	.	ENSP00000381378	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000398334	Transcript	.	.	ENSG00000181544	3583	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FANCB_HUMAN	FANCB	HGNC	C9J5X9_HUMAN	.	UPI000006E70A	substitution	FANCB,frameshift_variant,p.Glu605ArgfsTer46,ENST00000324138,;FANCB,frameshift_variant,p.Glu605ArgfsTer46,ENST00000398334,;FANCB,frameshift_variant,p.Glu605ArgfsTer46,ENST00000452869,;	2080-2100	183	130	SUCCESS
HUWE1	10075	.	GRCh37	X	53617377	53617377	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	34	46	0	ENST00000262854.6:c.4178C>T	p.Ala1393Val	p.A1393V	ENST00000262854	NM_031407.5	1393	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS35301.1	4178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGCCCTT	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	34/83	.	.	.	.	.	.	.	.	.	34/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Ala1393Val,ENST00000218328,;HUWE1,missense_variant,p.Ala1393Val,ENST00000342160,;HUWE1,missense_variant,p.Ala1393Val,ENST00000262854,;HUWE1,missense_variant,p.Ala427Val,ENST00000427052,;	4636	46	40	SUCCESS
MAGEH1	28986	.	GRCh37	X	55478905	55478905	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1290189989	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	41	44	0	ENST00000342972.1:c.98C>A	p.Thr33Asn	p.T33N	ENST00000342972	NM_014061.3	33	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS14369.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGACCCCTA	NONE	.	.	.	.	.	ENSP00000343706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342972	Transcript	.	.	ENSG00000187601	24092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious_low_confidence(0)	.	MAGH1_HUMAN	MAGEH1	HGNC	.	.	UPI0000038A64	SNV	MAGEH1,missense_variant,p.Thr33Asn,ENST00000342972,;hsa-mir-4536-2,downstream_gene_variant,,ENST00000583537,;	368	44	55	SUCCESS
PDCD11	22984	.	GRCh37	10	105191888	105191888	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	76	1	ENST00000369797.3:c.3371A>T	p.Glu1124Val	p.E1124V	ENST00000369797	NM_014976.1	1124	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS31276.1	3371	RADIA|MUTECT|VARSCANS	.	CAGTGAGCTGG	NONE	.	.	hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5	.	.	ENSP00000358812	.	22/36	.	.	.	.	.	.	.	.	.	22/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.027)	.	tolerated(0.13)	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,missense_variant,p.Glu1124Val,ENST00000369797,;PDCD11,upstream_gene_variant,,ENST00000466959,;	3465	77	67	SUCCESS
SORCS3	22986	.	GRCh37	10	106865232	106865232	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	86	0	ENST00000369701.3:c.1171A>C	p.Ile391Leu	p.I391L	ENST00000369701	NM_014978.1	391	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS7558.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACATCAGT	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,SMART_domains:SM00602	.	.	ENSP00000358715	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.69)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Ile391Leu,ENST00000369701,;	1398	86	70	SUCCESS
FAM160B1	0	.	GRCh37	10	116608453	116608453	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	14	58	0	ENST00000369248.4:c.1760A>G	p.Glu587Gly	p.E587G	ENST00000369248	NM_020940.3	587	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31290.1	1760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGAGGGCA	NONE	.	.	hmmpanther:PTHR21705:SF2,hmmpanther:PTHR21705	.	.	ENSP00000358251	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000369248	Transcript	.	.	ENSG00000151553	29320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.289)	.	tolerated(0.1)	.	F16B1_HUMAN	FAM160B1	HGNC	.	.	UPI0000160B10	SNV	FAM160B1,missense_variant,p.Glu587Gly,ENST00000369248,;FAM160B1,missense_variant,p.Glu587Gly,ENST00000369250,;	2095	58	83	SUCCESS
DHX32	55760	.	GRCh37	10	127526783	127526783	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	36	0	ENST00000284690.3:c.2055T>A	p.Ser685=	p.S685=	ENST00000284690	NM_018180.2	685	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7652.1	2055	MUTECT|MUSE	.	TCAGGAGAGAT	NONE	.	.	hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934,Pfam_domain:PF07717	.	.	ENSP00000284690	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,synonymous_variant,p.%3D,ENST00000284688,;DHX32,synonymous_variant,p.%3D,ENST00000368721,;DHX32,synonymous_variant,p.%3D,ENST00000284690,;BCCIP,intron_variant,,ENST00000299130,;BCCIP,intron_variant,,ENST00000429863,;BCCIP,intron_variant,,ENST00000368759,;BCCIP,downstream_gene_variant,,ENST00000278100,;AL360176.1,upstream_gene_variant,,ENST00000401153,;	2546	36	41	SUCCESS
C10orf90	118611	.	GRCh37	10	128150126	128150126	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	95	0	ENST00000284694.7:c.1563A>T	p.Val521=	p.V521=	ENST00000284694	NM_001004298.2	521	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31310.1	1563	MUTECT|MUSE|VARSCANS	.	ATTTTTACAAC	NONE	.	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553	.	.	ENSP00000284694	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,synonymous_variant,p.%3D,ENST00000432642,;C10orf90,synonymous_variant,p.%3D,ENST00000284694,;C10orf90,synonymous_variant,p.%3D,ENST00000454341,;C10orf90,synonymous_variant,p.%3D,ENST00000356858,;C10orf90,synonymous_variant,p.%3D,ENST00000544758,;C10orf90,synonymous_variant,p.%3D,ENST00000424927,;C10orf90,5_prime_UTR_variant,,ENST00000480379,;	1684	95	73	SUCCESS
C10orf90	118611	.	GRCh37	10	128193605	128193605	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757878412	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	56	0	ENST00000284694.7:c.164C>T	p.Ser55Phe	p.S55F	ENST00000284694	NM_001004298.2	55	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS31310.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGAGATG	NONE	.	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553	.	.	ENSP00000284694	.	3/9	.	.	.	.	.	.	.	.	rs757878412	3/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Ser8Phe,ENST00000488181,;C10orf90,missense_variant,p.Ser8Phe,ENST00000356858,;C10orf90,missense_variant,p.Ser8Phe,ENST00000392694,;C10orf90,missense_variant,p.Ser55Phe,ENST00000432642,;C10orf90,missense_variant,p.Ser55Phe,ENST00000284694,;C10orf90,missense_variant,p.Ser55Phe,ENST00000454341,;C10orf90,missense_variant,p.Ser152Phe,ENST00000544758,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,3_prime_UTR_variant,,ENST00000463082,;	285	56	68	SUCCESS
FAM196A	0	.	GRCh37	10	128974643	128974643	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762119851	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	28	0	ENST00000522781.1:c.17C>A	p.Thr6Asn	p.T6N	ENST00000522781	NM_001039762.2	6	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS31312.1	17	MUTECT|MUSE	.	TGCCGGTGTCC	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000429763	.	4/6	.	.	.	.	.	.	.	.	rs762119851	4/6	PASS	ENST00000522781	Transcript	.	.	ENSG00000188916	33859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.168)	.	tolerated(0.16)	.	F196A_HUMAN	FAM196A	HGNC	.	.	UPI00001C0E37	SNV	FAM196A,missense_variant,p.Thr6Asn,ENST00000522781,;FAM196A,missense_variant,p.Thr6Asn,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,;	573	28	24	SUCCESS
NEBL	10529	.	GRCh37	10	21169807	21169807	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	72	0	ENST00000377122.4:c.396T>A	p.Ala132=	p.A132=	ENST00000377122	NM_006393.2	132	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7134.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCAGCATC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000366326	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000377122	Transcript	.	.	ENSG00000078114	16932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,synonymous_variant,p.%3D,ENST00000377122,;NEBL,synonymous_variant,p.%3D,ENST00000377119,;NEBL,synonymous_variant,p.%3D,ENST00000434381,;NEBL,intron_variant,,ENST00000377159,;NEBL,intron_variant,,ENST00000417816,;	793	72	65	SUCCESS
ANKRD16	54522	.	GRCh37	10	5925099	5925099	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	51	1	ENST00000380092.4:c.719C>T	p.Ala240Val	p.A240V	ENST00000380092	NM_001009941.2	240	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31136.1	719	MUTECT|MUSE	.	CCTGGGCACCC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24181,hmmpanther:PTHR24181:SF20,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000369436	.	5/8	.	.	.	.	.	.	.	.	COSM179332	5/8	PASS	ENST00000380094	Transcript	.	.	ENSG00000134461	23471	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.493)	.	tolerated(0.09)	1	ANR16_HUMAN	ANKRD16	HGNC	.	.	UPI00001D809F	SNV	ANKRD16,missense_variant,p.Ala240Val,ENST00000191063,;ANKRD16,missense_variant,p.Ala240Val,ENST00000380092,;ANKRD16,missense_variant,p.Ala240Val,ENST00000380094,;ANKRD16,non_coding_transcript_exon_variant,,ENST00000492368,;	1263	52	38	SUCCESS
FAM13C	220965	.	GRCh37	10	61043201	61043201	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	45	0	ENST00000373868.2:c.514G>A	p.Ala172Thr	p.A172T	ENST00000373868	NM_198215.3	172	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7255.1	514	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCTTCTT	NONE	.	.	hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.119)	.	tolerated(0.51)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,missense_variant,p.Ala172Thr,ENST00000419214,;FAM13C,missense_variant,p.Ala172Thr,ENST00000422313,;FAM13C,missense_variant,p.Ala89Thr,ENST00000468840,;FAM13C,missense_variant,p.Ala172Thr,ENST00000373868,;FAM13C,missense_variant,p.Ala193Thr,ENST00000277705,;FAM13C,missense_variant,p.Ala193Thr,ENST00000442566,;FAM13C,missense_variant,p.Ala172Thr,ENST00000435852,;FAM13C,missense_variant,p.Ala89Thr,ENST00000373867,;RP11-443O13.3,downstream_gene_variant,,ENST00000433249,;FAM13C,non_coding_transcript_exon_variant,,ENST00000477101,;FAM13C,non_coding_transcript_exon_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;	602	45	60	SUCCESS
FAM13C	220965	.	GRCh37	10	61112104	61112104	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	54	0	ENST00000373868.2:c.250A>G	p.Met84Val	p.M84V	ENST00000373868	NM_198215.3	84	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS7255.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCATGCTGG	NONE	.	.	hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	deleterious_low_confidence(0)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,start_lost,p.Met1?,ENST00000468840,;FAM13C,start_lost,p.Met1?,ENST00000503444,;FAM13C,start_lost,p.Met1?,ENST00000512919,;FAM13C,start_lost,p.Met1?,ENST00000373867,;FAM13C,missense_variant,p.Met84Val,ENST00000419214,;FAM13C,missense_variant,p.Met84Val,ENST00000422313,;FAM13C,missense_variant,p.Met84Val,ENST00000373868,;FAM13C,missense_variant,p.Met84Val,ENST00000277705,;FAM13C,missense_variant,p.Met84Val,ENST00000442566,;FAM13C,missense_variant,p.Met84Val,ENST00000435852,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507862,;FAM13C,non_coding_transcript_exon_variant,,ENST00000470220,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,3_prime_UTR_variant,,ENST00000504410,;	338	54	64	SUCCESS
HKDC1	80201	.	GRCh37	10	70980067	70980067	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs116394558	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	40	0	ENST00000354624.5:c.-125C>T		p.*42*	ENST00000354624	NM_025130.3			0	.	T:0.0053	.	T:0	.	T	.	protein_coding	YES	CCDS7288.1	.	MUTECT|MUSE	.	TAGTCCGCAAC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000346643	T:0	1/18	.	.	.	.	.	.	.	.	rs116394558	1/18	PASS	ENST00000354624	Transcript	.	T:0.0014	ENSG00000156510	23302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	HKDC1_HUMAN	HKDC1	HGNC	.	.	UPI00003666D2	SNV	HKDC1,5_prime_UTR_variant,,ENST00000354624,;HKDC1,5_prime_UTR_variant,,ENST00000395086,;RP11-227H15.4,intron_variant,,ENST00000450995,;	9	40	34	SUCCESS
CDH23	64072	.	GRCh37	10	73544795	73544795	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1277608253	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	73	1	ENST00000224721.6:c.5665G>A	p.Ala1889Thr	p.A1889T	ENST00000224721	NM_022124.5	1889	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	.	.	5665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATGCACGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000224721	.	42/69	.	.	.	.	.	.	.	.	.	42/69	PASS	ENST00000224721	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	deleterious(0.03)	.	.	CDH23	HGNC	.	.	UPI0002B831D5	SNV	CDH23,missense_variant,p.Ala1889Thr,ENST00000224721,;	5670	74	91	SUCCESS
PTEN	5728	.	GRCh37	10	89720791	89720791	+	synonymous_variant	Silent	SNP	A	A	G	rs1589666037	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	42	371	0	ENST00000371953.3:c.942A>G	p.Glu314=	p.E314=	ENST00000371953	NM_000314.4	314	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS31238.1	942	RADIA|MUTECT|MUSE	.	AAGGAATATCT	CODON|p.0?|c.1_1212del1212|28,BUFFER|p.T319fs*1|c.950_953delTACT|37,BUFFER|p.V317fs*3|c.951_954delACTT|4,BUFFER|p.L318fs*2|c.952_955delCTTA|11,BUFFER|p.L318fs*2|c.953_956delTTAC|4,BUFFER|p.L318P|c.953T>C|3,BUFFER|p.L318fs*2|c.954_957delTACT|11	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	.	.	ENSP00000361021	.	8/9	.	.	.	.	.	.	.	.	COSM5804	8/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,synonymous_variant,p.%3D,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	2299	371	290	SUCCESS
IFIT2	3433	.	GRCh37	10	91066479	91066479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	18	111	0	ENST00000371826.3:c.766T>A	p.Phe256Ile	p.F256I	ENST00000371826	NM_001547.4	256	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS41548.1	766	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTTTTAT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000360891	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371826	Transcript	.	.	ENSG00000119922	5409	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.811)	.	deleterious(0)	.	IFIT2_HUMAN	IFIT2	HGNC	.	.	UPI000012D3E4	SNV	IFIT2,missense_variant,p.Phe256Ile,ENST00000371826,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	935	111	173	SUCCESS
TLL2	7093	.	GRCh37	10	98144429	98144429	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	108	1	ENST00000357947.3:c.2109C>T	p.Ile703=	p.I703=	ENST00000357947	NM_012465.3	703	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7449.1	2109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGATGAC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF49854	.	.	ENSP00000350630	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000357947	Transcript	.	.	ENSG00000095587	11844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLL2_HUMAN	TLL2	HGNC	.	.	UPI0000073AEE	SNV	TLL2,synonymous_variant,p.%3D,ENST00000357947,;	2335	109	106	SUCCESS
SFRP5	6425	.	GRCh37	10	99527306	99527306	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs754037085	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	96	0	ENST00000266066.3:c.919T>A	p.Tyr307Asn	p.Y307N	ENST00000266066	NM_003015.3	307	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS7472.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTAGTAGA	NONE	.	.	Superfamily_domains:SSF50242	.	.	ENSP00000266066	.	3/3	.	.	.	.	.	.	.	.	rs754037085	3/3	PASS	ENST00000266066	Transcript	.	.	ENSG00000120057	10779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.1)	.	SFRP5_HUMAN	SFRP5	HGNC	.	.	UPI000013D6CB	SNV	SFRP5,missense_variant,p.Tyr307Asn,ENST00000266066,;	1038	96	91	SUCCESS
MUC6	4588	.	GRCh37	11	1030299	1030299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	122	0	ENST00000421673.2:c.929A>T	p.Glu310Val	p.E310V	ENST00000421673	NM_005961.2	310	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS44513.1	929	RADIA|MUTECT|MUSE|VARSCANS	.	CGCACTCCTGG	NONE	.	.	Superfamily_domains:SSF57567,Pfam_domain:PF01826,Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264	.	.	ENSP00000406861	.	8/33	.	.	.	.	.	.	.	.	.	8/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Glu310Val,ENST00000421673,;MUC6,downstream_gene_variant,,ENST00000525923,;	980	122	110	SUCCESS
ARHGAP20	57569	.	GRCh37	11	110451149	110451149	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	25	119	0	ENST00000260283.4:c.2521A>G	p.Thr841Ala	p.T841A	ENST00000260283	NM_020809.3	841	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31673.1	2521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGTCCTTG	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF24	.	.	ENSP00000260283	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000260283	Transcript	.	.	ENSG00000137727	18357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.24)	.	RHG20_HUMAN	ARHGAP20	HGNC	.	.	UPI000013D0BA	SNV	ARHGAP20,missense_variant,p.Thr841Ala,ENST00000260283,;ARHGAP20,missense_variant,p.Thr384Ala,ENST00000529591,;ARHGAP20,missense_variant,p.Thr805Ala,ENST00000527598,;ARHGAP20,missense_variant,p.Thr805Ala,ENST00000528829,;ARHGAP20,missense_variant,p.Thr815Ala,ENST00000357139,;ARHGAP20,missense_variant,p.Thr815Ala,ENST00000533353,;ARHGAP20,missense_variant,p.Thr818Ala,ENST00000524756,;	2806	119	94	SUCCESS
KMT2A	4297	.	GRCh37	11	118359362	118359362	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	113	0	ENST00000534358.1:c.4366C>T	p.His1456Tyr	p.H1456Y	ENST00000534358	NM_005933.3	1456	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS55791.1	4366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCACAAG	BUFFER|p.H1456Q|c.4368C>A|3	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,SMART_domains:SM00249,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	11/36	.	.	.	.	.	.	.	.	.	11/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,missense_variant,p.His1456Tyr,ENST00000389506,;KMT2A,missense_variant,p.His1418Tyr,ENST00000354520,;KMT2A,missense_variant,p.His1456Tyr,ENST00000534358,;KMT2A,missense_variant,p.His168Tyr,ENST00000392873,;KMT2A,downstream_gene_variant,,ENST00000531904,;KMT2A,downstream_gene_variant,,ENST00000420751,;	4389	113	79	SUCCESS
USP47	55031	.	GRCh37	11	11944273	11944273	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	18	118	0	ENST00000399455.2:c.1281A>G		p.X427_splice	ENST00000399455		427	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS41619.1	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAATCTCC	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF98,PROSITE_profiles:PS50235	.	.	ENSP00000339957	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000339865	Transcript	.	.	ENSG00000170242	20076	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP47_HUMAN	USP47	HGNC	.	.	UPI00001F9D69	SNV	USP47,synonymous_variant,p.%3D,ENST00000399455,;USP47,synonymous_variant,p.%3D,ENST00000527733,;USP47,synonymous_variant,p.%3D,ENST00000339865,;USP47,splice_region_variant,,ENST00000539466,;	1780	118	103	SUCCESS
NTM	50863	.	GRCh37	11	132081914	132081914	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	79	0	ENST00000374786.1:c.401-2A>T		p.X134_splice	ENST00000374786	NM_001144058.1	134		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44777.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGTATC	NONE	.	.	.	.	.	ENSP00000396722	.	.	.	.	.	.	.	.	.	.	COSM1127846,COSM1127845	.	PASS	ENST00000425719	Transcript	.	.	ENSG00000182667	17941	.	.	HIGH	2/7	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	NTRI_HUMAN	NTM	HGNC	.	.	UPI00001A58B9	SNV	NTM,splice_acceptor_variant,,ENST00000374784,;NTM,splice_acceptor_variant,,ENST00000374791,;NTM,splice_acceptor_variant,,ENST00000539799,;NTM,splice_acceptor_variant,,ENST00000425719,;NTM,splice_acceptor_variant,,ENST00000550167,;NTM,splice_acceptor_variant,,ENST00000374786,;NTM,splice_acceptor_variant,,ENST00000427481,;NTM,splice_acceptor_variant,,ENST00000467255,;NTM,splice_acceptor_variant,,ENST00000496094,;NTM,splice_acceptor_variant,,ENST00000498764,;NTM,splice_acceptor_variant,,ENST00000482316,;NTM,splice_acceptor_variant,,ENST00000490356,;NTM,splice_acceptor_variant,,ENST00000474900,;	.	79	64	SUCCESS
ASCL2	430	.	GRCh37	11	2291880	2291880	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	119	0	ENST00000331289.4:c.-318G>A		p.*106*	ENST00000331289	NM_005170.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7732.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGTCGC	NONE	.	.	.	.	.	ENSP00000332293	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331289	Transcript	.	.	ENSG00000183734	739	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASCL2_HUMAN	ASCL2	HGNC	.	.	UPI0000041179	SNV	ASCL2,5_prime_UTR_variant,,ENST00000331289,;	303	119	104	SUCCESS
LUZP2	338645	.	GRCh37	11	24936037	24936037	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	37	268	0	ENST00000336930.6:c.475G>T	p.Ala159Ser	p.A159S	ENST00000336930		159	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31446.1	475	RADIA|MUTECT|MUSE	.	TCCAAGCCCAG	NONE	.	.	Pfam_domain:PF15294,hmmpanther:PTHR22414	.	.	ENSP00000336817	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.034)	.	tolerated(0.09)	.	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,missense_variant,p.Ala159Ser,ENST00000336930,;LUZP2,missense_variant,p.Ala73Ser,ENST00000533227,;LUZP2,intron_variant,,ENST00000529015,;	541	268	304	SUCCESS
LUZP2	338645	.	GRCh37	11	24936045	24936045	+	synonymous_variant	Silent	SNP	G	G	A	rs1345310119	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	39	265	0	ENST00000336930.6:c.483G>A	p.Leu161=	p.L161=	ENST00000336930		161	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31446.1	483	RADIA|MUTECT|MUSE	.	CAGCTGAAGGA	NONE	.	.	Pfam_domain:PF15294,hmmpanther:PTHR22414	.	.	ENSP00000336817	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,synonymous_variant,p.%3D,ENST00000336930,;LUZP2,synonymous_variant,p.%3D,ENST00000533227,;LUZP2,intron_variant,,ENST00000529015,;	549	265	306	SUCCESS
WT1	7490	.	GRCh37	11	32413561	32413561	+	synonymous_variant	Silent	SNP	G	G	T	rs374799820	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	100	0	ENST00000332351.3:c.1389C>A	p.Ser463=	p.S463=	ENST00000332351	NM_024426.4	463	tcC/tcA	0	A:0	.	.	.	.	T	S	protein_coding	YES	CCDS7878.2	1389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGGACCG	CODON|p.V380_S410del|c.1136_1228del93|6,BUFFER|p.D396N|c.1186G>A|9,BUFFER|p.R394Q|c.1181G>A|8,BUFFER|p.R394P|c.1181G>C|6,BUFFER|p.R394W|c.1180C>T|7	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	A:0.0001	ENSP00000331327	.	9/10	.	.	.	.	.	.	.	.	rs374799820	9/10	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,synonymous_variant,p.%3D,ENST00000332351,;WT1,synonymous_variant,p.%3D,ENST00000448076,;WT1,synonymous_variant,p.%3D,ENST00000452863,;WT1,synonymous_variant,p.%3D,ENST00000379079,;WT1,synonymous_variant,p.%3D,ENST00000527882,;WT1,synonymous_variant,p.%3D,ENST00000530998,;WT1,downstream_gene_variant,,ENST00000527775,;WT1,downstream_gene_variant,,ENST00000526685,;WT1,3_prime_UTR_variant,,ENST00000379077,;	1674	100	120	SUCCESS
PTPRJ	5795	.	GRCh37	11	48188835	48188835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	109	0	ENST00000418331.2:c.3935A>G	p.Gln1312Arg	p.Q1312R	ENST00000418331	NM_002843.3	1312	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS7945.1	3935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCAGAACA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211	.	.	ENSP00000400010	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000418331	Transcript	.	.	ENSG00000149177	9673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PTPRJ_HUMAN	PTPRJ	HGNC	Q9NPR5_HUMAN	.	UPI00004564C8	SNV	PTPRJ,missense_variant,p.Gln1312Arg,ENST00000418331,;	4287	109	93	SUCCESS
OR4C16	219428	.	GRCh37	11	55340485	55340485	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	55	0	ENST00000314634.3:c.882T>A	p.Ser294Arg	p.S294R	ENST00000314634	NM_001004701.2	294	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS31502.1	882	MUTECT|MUSE	.	AAAAGTGCCAT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF223	.	.	ENSP00000324913	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314634	Transcript	.	.	ENSG00000181935	15172	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.142)	.	deleterious(0)	.	OR4CG_HUMAN	OR4C16	HGNC	.	.	UPI000013F8A8	SNV	OR4C16,missense_variant,p.Ser294Arg,ENST00000314634,;	882	55	60	SUCCESS
OR56B1	387748	.	GRCh37	11	5757966	5757966	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	111	0	ENST00000317121.3:c.220A>T	p.Ile74Phe	p.I74F	ENST00000317121	NM_001005180.2	74	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS31395.1	220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCATCCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR23360:SF12,hmmpanther:PTHR23360,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322939	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317121	Transcript	.	.	ENSG00000181023	15245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(0.07)	.	O56B1_HUMAN	OR56B1	HGNC	.	.	UPI0000046199	SNV	OR56B1,missense_variant,p.Ile74Phe,ENST00000317121,;TRIM22,3_prime_UTR_variant,,ENST00000444844,;TRIM22,3_prime_UTR_variant,,ENST00000429063,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	286	111	92	SUCCESS
OR5B21	219968	.	GRCh37	11	58275100	58275100	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376076638	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	87	0	ENST00000360374.2:c.479G>A	p.Gly160Asp	p.G160D	ENST00000360374	NM_001005218.1	160	gGc/gAc	0	T:0.0002	.	.	.	.	T	G/D	protein_coding	YES	CCDS31552.1	479	MUTECT|MUSE	.	AGGTGCCTGCT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF288,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	T:0	ENSP00000353537	.	1/1	.	.	.	.	.	.	.	.	rs376076638	1/1	PASS	ENST00000360374	Transcript	.	.	ENSG00000198283	19616	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	OR5BL_HUMAN	OR5B21	HGNC	.	.	UPI000015FCAA	SNV	OR5B21,missense_variant,p.Gly160Asp,ENST00000360374,;RP11-655C2.3,upstream_gene_variant,,ENST00000531715,;RP11-655C2.3,upstream_gene_variant,,ENST00000527054,;RP11-655C2.3,upstream_gene_variant,,ENST00000528978,;	479	87	96	SUCCESS
OOSP2	219990	.	GRCh37	11	59814496	59814496	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	107	0	ENST00000278855.2:c.427A>G	p.Thr143Ala	p.T143A	ENST00000278855	NM_173801.3	143	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS7979.1	427	RADIA|MUTECT|MUSE	.	TTCAGACAACA	NONE	.	.	hmmpanther:PTHR14380,hmmpanther:PTHR14380:SF7	.	.	ENSP00000278855	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000278855	Transcript	.	.	ENSG00000149507	26699	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.42)	.	OOSP2_HUMAN	OOSP2	HGNC	.	.	UPI000000DC90	SNV	OOSP2,missense_variant,p.Thr143Ala,ENST00000278855,;OOSP2,downstream_gene_variant,,ENST00000532905,;OOSP2,downstream_gene_variant,,ENST00000527395,;	612	107	116	SUCCESS
MS4A12	54860	.	GRCh37	11	60264908	60264908	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	11	176	0	ENST00000016913.4:c.117A>T	p.Leu39Phe	p.L39F	ENST00000016913	NM_017716.2	39	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7988.1	117	MUTECT|MUSE	.	AACTTAGAAAA	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF34	.	.	ENSP00000016913	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000016913	Transcript	.	.	ENSG00000071203	13370	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.26)	.	tolerated(0.71)	.	M4A12_HUMAN	MS4A12	HGNC	E9PNI3_HUMAN	.	UPI000006D9F8	SNV	MS4A12,missense_variant,p.Leu39Phe,ENST00000537076,;MS4A12,missense_variant,p.Leu39Phe,ENST00000526784,;MS4A12,missense_variant,p.Leu39Phe,ENST00000530007,;MS4A12,missense_variant,p.Leu39Phe,ENST00000016913,;MS4A12,non_coding_transcript_exon_variant,,ENST00000525951,;	174	176	149	SUCCESS
STX5	6811	.	GRCh37	11	62594819	62594819	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	12	96	0	ENST00000294179.3:c.348A>G	p.Thr116=	p.T116=	ENST00000294179	NM_001244666.1	116	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS8038.2	348	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATTGTCAG	NONE	.	.	hmmpanther:PTHR19957:SF3,hmmpanther:PTHR19957,Pfam_domain:PF00804,Gene3D:1.20.58.70,Superfamily_domains:SSF47661	.	.	ENSP00000294179	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000294179	Transcript	.	.	ENSG00000162236	11440	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STX5_HUMAN	STX5	HGNC	B4DKR0_HUMAN	.	UPI00001FA9B0	SNV	STX5,synonymous_variant,p.%3D,ENST00000541317,;STX5,synonymous_variant,p.%3D,ENST00000294179,;STX5,synonymous_variant,p.%3D,ENST00000394690,;STX5,synonymous_variant,p.%3D,ENST00000377897,;WDR74,downstream_gene_variant,,ENST00000536401,;STX5,upstream_gene_variant,,ENST00000431400,;RP11-727F15.9,upstream_gene_variant,,ENST00000535817,;STX5,synonymous_variant,p.%3D,ENST00000491231,;STX5,3_prime_UTR_variant,,ENST00000488303,;STX5,3_prime_UTR_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000486437,;	502	96	101	SUCCESS
SLC3A2	6520	.	GRCh37	11	62648792	62648792	+	synonymous_variant	Silent	SNP	C	C	A	rs921536046	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	71	0	ENST00000377890.2:c.600C>A	p.Ala200=	p.A200=	ENST00000377890	NM_002394.5	200	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31588.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCGTGGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10357:SF12,hmmpanther:PTHR10357	.	.	ENSP00000367123	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000377891	Transcript	.	.	ENSG00000168003	11026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC3A2	HGNC	J3KPF3_HUMAN,F5H867_HUMAN,F5H056_HUMAN,F5GZI0_HUMAN,B4E2Z3_HUMAN	.	UPI00004EC298	SNV	SLC3A2,synonymous_variant,p.%3D,ENST00000377892,;SLC3A2,synonymous_variant,p.%3D,ENST00000338663,;SLC3A2,synonymous_variant,p.%3D,ENST00000377891,;SLC3A2,synonymous_variant,p.%3D,ENST00000538084,;SLC3A2,synonymous_variant,p.%3D,ENST00000377890,;SLC3A2,synonymous_variant,p.%3D,ENST00000377889,;SLC3A2,synonymous_variant,p.%3D,ENST00000544377,;SLC3A2,synonymous_variant,p.%3D,ENST00000535296,;SLC3A2,splice_region_variant,,ENST00000539458,;SLC3A2,upstream_gene_variant,,ENST00000539891,;SLC3A2,downstream_gene_variant,,ENST00000541372,;SLC3A2,upstream_gene_variant,,ENST00000536981,;SLC3A2,upstream_gene_variant,,ENST00000539507,;SLC3A2,upstream_gene_variant,,ENST00000546253,;SLC3A2,upstream_gene_variant,,ENST00000538682,;SLC3A2,upstream_gene_variant,,ENST00000537839,;SLC3A2,upstream_gene_variant,,ENST00000537508,;SLC3A2,upstream_gene_variant,,ENST00000457660,;SLC3A2,upstream_gene_variant,,ENST00000541649,;SLC3A2,upstream_gene_variant,,ENST00000535768,;SLC3A2,upstream_gene_variant,,ENST00000542922,;SLC3A2,upstream_gene_variant,,ENST00000541425,;SLC3A2,upstream_gene_variant,,ENST00000546312,;	762	71	65	SUCCESS
NPAS4	266743	.	GRCh37	11	66189687	66189687	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	67	0	ENST00000311034.2:c.272A>G	p.Glu91Gly	p.E91G	ENST00000311034	NM_178864.3	91	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8138.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGAGGGGA	BUFFER|p.G92G|c.276G>A|4	.	.	Superfamily_domains:SSF55785,SMART_domains:SM00091,Gene3D:3.30.450.20,hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043,PROSITE_profiles:PS50112	.	.	ENSP00000311196	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000311034	Transcript	.	.	ENSG00000174576	18983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.447)	.	deleterious(0)	.	NPAS4_HUMAN	NPAS4	HGNC	.	.	UPI0000074744	SNV	NPAS4,missense_variant,p.Glu91Gly,ENST00000311034,;NPAS4,missense_variant,p.Glu91Gly,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;	448	67	54	SUCCESS
B3GNT6	192134	.	GRCh37	11	76751320	76751320	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782053863	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	30	0	ENST00000533140.1:c.725G>A	p.Gly242Asp	p.G242D	ENST00000533140	NM_138706.4	242	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS53681.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGGCCGCC	NONE	.	.	hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF24,Pfam_domain:PF01762	.	.	ENSP00000435352	.	2/2	.	.	.	.	.	.	.	.	rs782053863	2/2	PASS	ENST00000533140	Transcript	.	.	ENSG00000198488	24141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	B3GN6_HUMAN	B3GNT6	HGNC	E9PJ79_HUMAN	.	UPI00001FAFE0	SNV	B3GNT6,missense_variant,p.Gly153Asp,ENST00000421061,;B3GNT6,missense_variant,p.Gly242Asp,ENST00000533140,;B3GNT6,missense_variant,p.Gly242Asp,ENST00000354301,;B3GNT6,downstream_gene_variant,,ENST00000528622,;	863	30	28	SUCCESS
CD151	977	.	GRCh37	11	836089	836089	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	92	0	ENST00000322008.4:c.20A>G	p.Lys7Arg	p.K7R	ENST00000322008	NM_004357.4	7	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7719.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGAAGAAGA	NONE	.	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF167,PIRSF_domain:PIRSF002419	.	.	ENSP00000380565	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000397420	Transcript	.	.	ENSG00000177697	1630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	tolerated(0.11)	.	CD151_HUMAN	CD151	HGNC	K4DIB7_HUMAN,E9PSA1_HUMAN,E9PP93_HUMAN,E9PLZ6_HUMAN,E9PK37_HUMAN,E9PJE8_HUMAN,E9PJC8_HUMAN	.	UPI00001507D8	SNV	CD151,missense_variant,p.Lys7Arg,ENST00000528867,;CD151,missense_variant,p.Lys7Arg,ENST00000528011,;CD151,missense_variant,p.Lys7Arg,ENST00000525718,;CD151,missense_variant,p.Lys7Arg,ENST00000397420,;CD151,missense_variant,p.Lys7Arg,ENST00000526439,;CD151,missense_variant,p.Lys7Arg,ENST00000525333,;CD151,missense_variant,p.Lys7Arg,ENST00000322008,;CD151,missense_variant,p.Lys7Arg,ENST00000527341,;CD151,missense_variant,p.Lys7Arg,ENST00000529810,;CD151,missense_variant,p.Lys7Arg,ENST00000524748,;CD151,missense_variant,p.Lys7Arg,ENST00000397421,;CD151,missense_variant,p.Lys7Arg,ENST00000530320,;CD151,missense_variant,p.Lys7Arg,ENST00000526693,;EFCAB4A,downstream_gene_variant,,ENST00000528542,;EFCAB4A,downstream_gene_variant,,ENST00000525077,;EFCAB4A,downstream_gene_variant,,ENST00000450448,;POLR2L,downstream_gene_variant,,ENST00000322028,;AP006621.8,upstream_gene_variant,,ENST00000532946,;CD151,upstream_gene_variant,,ENST00000525181,;CD151,missense_variant,p.Lys7Arg,ENST00000530726,;CD151,non_coding_transcript_exon_variant,,ENST00000531999,;CD151,non_coding_transcript_exon_variant,,ENST00000530155,;CD151,non_coding_transcript_exon_variant,,ENST00000532045,;CD151,non_coding_transcript_exon_variant,,ENST00000526661,;CD151,non_coding_transcript_exon_variant,,ENST00000525868,;EFCAB4A,downstream_gene_variant,,ENST00000526531,;POLR2L,downstream_gene_variant,,ENST00000534030,;EFCAB4A,downstream_gene_variant,,ENST00000527763,;CD151,upstream_gene_variant,,ENST00000532075,;EFCAB4A,downstream_gene_variant,,ENST00000528694,;EFCAB4A,downstream_gene_variant,,ENST00000530688,;	269	92	91	SUCCESS
GRM5	2915	.	GRCh37	11	88780420	88780420	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	115	0	ENST00000305447.4:c.621G>T	p.Lys207Asn	p.K207N	ENST00000305447	NM_001143831.2	207	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS44694.1	621	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTCTTCAC	NONE	.	.	hmmpanther:PTHR24060:SF30,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000402912	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.927)	.	deleterious(0.03)	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,missense_variant,p.Lys40Asn,ENST00000449371,;GRM5,missense_variant,p.Lys207Asn,ENST00000305447,;GRM5,missense_variant,p.Lys207Asn,ENST00000393297,;GRM5,missense_variant,p.Lys207Asn,ENST00000305432,;GRM5,missense_variant,p.Lys207Asn,ENST00000418177,;GRM5,missense_variant,p.Lys207Asn,ENST00000455756,;GRM5,missense_variant,p.Lys207Asn,ENST00000393294,;	989	115	103	SUCCESS
RFX4	5992	.	GRCh37	12	107075779	107075779	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	13	83	0	ENST00000392842.1:c.324G>T	p.Arg108Ser	p.R108S	ENST00000392842	NM_213594.2	108	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS55880.1	351	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGGCAGCA	NONE	.	.	Superfamily_domains:SSF46785,Gene3D:1.10.10.10,Pfam_domain:PF02257,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF15,PROSITE_profiles:PS51526	.	.	ENSP00000350552	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000357881	Transcript	.	.	ENSG00000111783	9985	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.526)	.	deleterious(0)	.	RFX4_HUMAN	RFX4	HGNC	R4GMS3_HUMAN,F8VZC4_HUMAN	.	UPI00001FB460	SNV	RFX4,missense_variant,p.Arg108Ser,ENST00000392842,;RFX4,missense_variant,p.Arg117Ser,ENST00000357881,;RFX4,missense_variant,p.Arg53Ser,ENST00000551640,;RFX4,missense_variant,p.Arg25Ser,ENST00000549040,;RFX4,5_prime_UTR_variant,,ENST00000539967,;RP11-144F15.1,intron_variant,,ENST00000551505,;RFX4,upstream_gene_variant,,ENST00000229387,;RFX4,upstream_gene_variant,,ENST00000552866,;RP11-482D24.2,non_coding_transcript_exon_variant,,ENST00000547531,;RFX4,missense_variant,p.Arg117Ser,ENST00000536722,;RFX4,3_prime_UTR_variant,,ENST00000546882,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;RFX4,non_coding_transcript_exon_variant,,ENST00000552773,;RP11-144F15.1,intron_variant,,ENST00000549203,;RFX4,upstream_gene_variant,,ENST00000552917,;	491	83	90	SUCCESS
TBX5	6910	.	GRCh37	12	114793650	114793650	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	59	0	ENST00000310346.4:c.1244T>C	p.Val415Ala	p.V415A	ENST00000310346	NM_000192.3	415	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS9173.1	1244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACGGTG	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28	.	.	ENSP00000309913	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000310346	Transcript	.	.	ENSG00000089225	11604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious(0)	.	TBX5_HUMAN	TBX5	HGNC	.	.	UPI0000136AA2	SNV	TBX5,missense_variant,p.Val415Ala,ENST00000405440,;TBX5,missense_variant,p.Val365Ala,ENST00000349716,;TBX5,missense_variant,p.Val415Ala,ENST00000310346,;	1911	59	72	SUCCESS
PITPNM2	57605	.	GRCh37	12	123472882	123472882	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	39	0	ENST00000320201.4:c.2896A>T	p.Asn966Tyr	p.N966Y	ENST00000320201	NM_020845.2	966	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9242.1	2896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTTGTCAT	NONE	.	.	hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41	.	.	ENSP00000322218	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000320201	Transcript	.	.	ENSG00000090975	21044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.406)	.	tolerated(0.33)	.	PITM2_HUMAN	PITPNM2	HGNC	Q9UF51_HUMAN,F5H664_HUMAN	.	UPI0000070D27	SNV	PITPNM2,missense_variant,p.Asn966Tyr,ENST00000542749,;PITPNM2,missense_variant,p.Asn960Tyr,ENST00000280562,;PITPNM2,missense_variant,p.Asn687Tyr,ENST00000392428,;PITPNM2,missense_variant,p.Asn966Tyr,ENST00000320201,;	3035	39	49	SUCCESS
DNAH10	196385	.	GRCh37	12	124335527	124335527	+	synonymous_variant	Silent	SNP	G	G	A	rs769378417	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	17	92	0	ENST00000409039.3:c.5841G>A	p.Ser1947=	p.S1947=	ENST00000409039	NM_207437.3	1947	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9255.2	5841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGGTGAA	NONE	byFrequency	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000386770	.	34/78	.	.	.	.	.	.	.	.	rs769378417	34/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;DNAH10,synonymous_variant,p.%3D,ENST00000497783,;	5866	92	99	SUCCESS
TMEM132B	114795	.	GRCh37	12	126139052	126139052	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	85	0	ENST00000299308.3:c.3033T>C	p.Asn1011=	p.N1011=	ENST00000299308	NM_052907.2	1011	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS41859.1	3033	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATGAACC	BUFFER|p.E1008*|c.3022G>T|3	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,synonymous_variant,p.%3D,ENST00000535886,;TMEM132B,synonymous_variant,p.%3D,ENST00000299308,;	3041	85	87	SUCCESS
TMEM132D	121256	.	GRCh37	12	129558522	129558522	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	47	122	1	ENST00000422113.2:c.3198G>C	p.Val1066=	p.V1066=	ENST00000422113	NM_133448.2	1066	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS9266.1	3198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCACGAT	BUFFER|p.I603I|c.1809C>T|3,BUFFER|p.I1065I|c.3195C>T|5	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	9/9	.	.	.	.	.	.	.	.	COSM1360026	9/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,synonymous_variant,p.%3D,ENST00000422113,;TMEM132D,synonymous_variant,p.%3D,ENST00000389441,;	3525	123	149	SUCCESS
EPS8	2059	.	GRCh37	12	15777209	15777209	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs150904526	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	61	139	0	ENST00000281172.5:c.2177C>A	p.Thr726Lys	p.T726K	ENST00000281172	NM_004447.5	726	aCa/aAa	0	A:0.0007	.	.	.	.	T	T/K	protein_coding	YES	CCDS31753.1	2177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGTGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21	.	A:0.0012	ENSP00000281172	.	19/21	.	.	.	.	.	.	.	.	rs150904526	19/21	PASS	ENST00000281172	Transcript	.	.	ENSG00000151491	3420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.28)	.	EPS8_HUMAN	EPS8	HGNC	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN	.	UPI000012A0BC	SNV	EPS8,missense_variant,p.Thr466Lys,ENST00000540613,;EPS8,missense_variant,p.Thr466Lys,ENST00000542903,;EPS8,missense_variant,p.Thr726Lys,ENST00000543612,;EPS8,missense_variant,p.Thr726Lys,ENST00000281172,;EPS8,missense_variant,p.Thr726Lys,ENST00000543523,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,non_coding_transcript_exon_variant,,ENST00000545610,;	2614	139	195	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18435472	18435472	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs748292087	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	67	0	ENST00000266497.5:c.457A>G	p.Lys153Glu	p.K153E	ENST00000266497		153	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS44839.1	457	RADIA|MUTECT|MUSE	.	TGGATAAAATT	NONE	.	.	.	.	.	ENSP00000404845	.	2/32	.	.	.	.	.	.	.	.	rs748292087	2/32	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.31)	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,missense_variant,p.Lys153Glu,ENST00000535651,;PIK3C2G,missense_variant,p.Lys153Glu,ENST00000538779,;PIK3C2G,missense_variant,p.Lys153Glu,ENST00000266497,;PIK3C2G,missense_variant,p.Lys153Glu,ENST00000433979,;RERGL,intron_variant,,ENST00000541632,;PIK3C2G,upstream_gene_variant,,ENST00000536967,;PIK3C2G,missense_variant,p.Lys153Glu,ENST00000546003,;	573	67	97	SUCCESS
GYS2	2998	.	GRCh37	12	21695505	21695505	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	55	262	0	ENST00000261195.2:c.1570A>G	p.Ile524Val	p.I524V	ENST00000261195	NM_021957.3	524	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8690.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGATACCCA	NONE	.	.	Superfamily_domains:SSF53756,Gene3D:3.40.50.2000,Pfam_domain:PF05693,hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176	.	.	ENSP00000261195	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000261195	Transcript	.	.	ENSG00000111713	4707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	tolerated(0.63)	.	GYS2_HUMAN	GYS2	HGNC	.	.	UPI000013D13D	SNV	GYS2,missense_variant,p.Ile524Val,ENST00000261195,;	1825	262	295	SUCCESS
PPHLN1	51535	.	GRCh37	12	42835193	42835193	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	10	71	0	ENST00000395568.2:c.986C>G	p.Ser329Cys	p.S329C	ENST00000395568	NM_016488.6	329	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS31777.1	986	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCTATAC	NONE	.	.	hmmpanther:PTHR15836,hmmpanther:PTHR15836:SF2,Pfam_domain:PF11488	.	.	ENSP00000378935	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000395568	Transcript	.	.	ENSG00000134283	19369	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0.03)	.	PPHLN_HUMAN	PPHLN1	HGNC	F8VWU8_HUMAN	.	UPI0000351A1E	SNV	PPHLN1,missense_variant,p.Ser329Cys,ENST00000358314,;PPHLN1,missense_variant,p.Ser310Cys,ENST00000449194,;PPHLN1,missense_variant,p.Ser274Cys,ENST00000337898,;PPHLN1,missense_variant,p.Ser347Cys,ENST00000549190,;PPHLN1,missense_variant,p.Ser281Cys,ENST00000552761,;PPHLN1,missense_variant,p.Ser336Cys,ENST00000395580,;PPHLN1,missense_variant,p.Ser329Cys,ENST00000395568,;PPHLN1,missense_variant,p.Ser209Cys,ENST00000256678,;PPHLN1,missense_variant,p.Ser262Cys,ENST00000317560,;PPHLN1,missense_variant,p.Ser274Cys,ENST00000432191,;	1070	71	101	SUCCESS
KRT85	3891	.	GRCh37	12	52760838	52760838	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	322	71	336	0	ENST00000257901.3:c.352T>C	p.Cys118Arg	p.C118R	ENST00000257901	NM_002283.3	118	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS8824.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCACTGTG	NONE	.	.	hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239	.	.	ENSP00000257901	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000257901	Transcript	.	.	ENSG00000135443	6462	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.64)	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,missense_variant,p.Cys118Arg,ENST00000257901,;KRT85,upstream_gene_variant,,ENST00000544265,;KRT85,upstream_gene_variant,,ENST00000552537,;	428	336	394	SUCCESS
KRT76	51350	.	GRCh37	12	53163335	53163335	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	61	0	ENST00000332411.2:c.1517T>C	p.Ile506Thr	p.I506T	ENST00000332411	NM_015848.4	506	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS8838.1	1517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAATGCAC	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF88	.	.	ENSP00000330101	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000332411	Transcript	.	.	ENSG00000185069	24430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0)	.	K22O_HUMAN	KRT76	HGNC	.	.	UPI000019B3C1	SNV	KRT76,missense_variant,p.Ile506Thr,ENST00000332411,;	1571	61	86	SUCCESS
KRT18	3875	.	GRCh37	12	53343284	53343284	+	synonymous_variant	Silent	SNP	G	G	A	rs1366517311	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	79	0	ENST00000388835.3:c.327G>A	p.Glu109=	p.E109=	ENST00000388835	NM_000224.2	109	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS31809.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGAGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000373487	.	1/7	.	.	.	.	.	.	.	.	COSM3710782	1/7	PASS	ENST00000388835	Transcript	.	.	ENSG00000111057	6430	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	K1C18_HUMAN	KRT18	HGNC	I6L965_HUMAN	.	UPI000004284B	SNV	KRT18,synonymous_variant,p.%3D,ENST00000388835,;KRT8,synonymous_variant,p.%3D,ENST00000548998,;KRT18,synonymous_variant,p.%3D,ENST00000388837,;KRT18,synonymous_variant,p.%3D,ENST00000550600,;KRT8,5_prime_UTR_variant,,ENST00000546826,;KRT8,5_prime_UTR_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000546897,;AC107016.2,upstream_gene_variant,,ENST00000581256,;KRT8,non_coding_transcript_exon_variant,,ENST00000549198,;KRT8,non_coding_transcript_exon_variant,,ENST00000551318,;KRT8,non_coding_transcript_exon_variant,,ENST00000552877,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548496,;AC107016.1,downstream_gene_variant,,ENST00000432903,;	537	79	102	SUCCESS
WIBG	0	.	GRCh37	12	56320927	56320927	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	11	201	0	ENST00000408946.2:c.37+582C>T		p.*13*	ENST00000408946	NM_032345.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41795.1	.	MUTECT|MUSE	.	AGCGGGCTGGG	NONE	.	.	.	.	.	ENSP00000386156	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408946	Transcript	.	.	ENSG00000170473	30258	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WIBG_HUMAN	WIBG	HGNC	.	.	UPI0000071DF3	SNV	WIBG,missense_variant,p.Ala29Val,ENST00000454792,;WIBG,intron_variant,,ENST00000408946,;WIBG,intron_variant,,ENST00000557259,;WIBG,intron_variant,,ENST00000549939,;WIBG,intron_variant,,ENST00000547925,;DGKA,upstream_gene_variant,,ENST00000557080,;WIBG,upstream_gene_variant,,ENST00000398213,;DGKA,upstream_gene_variant,,ENST00000547015,;DGKA,upstream_gene_variant,,ENST00000549629,;DGKA,upstream_gene_variant,,ENST00000556001,;DGKA,upstream_gene_variant,,ENST00000553783,;DGKA,upstream_gene_variant,,ENST00000546878,;DGKA,upstream_gene_variant,,ENST00000555218,;DGKA,upstream_gene_variant,,ENST00000394147,;DGKA,upstream_gene_variant,,ENST00000432422,;DGKA,upstream_gene_variant,,ENST00000331886,;DGKA,upstream_gene_variant,,ENST00000549368,;DGKA,upstream_gene_variant,,ENST00000555090,;DGKA,upstream_gene_variant,,ENST00000555025,;DGKA,upstream_gene_variant,,ENST00000551156,;DGKA,upstream_gene_variant,,ENST00000550115,;WIBG,upstream_gene_variant,,ENST00000302533,;DGKA,upstream_gene_variant,,ENST00000549323,;DGKA,upstream_gene_variant,,ENST00000553084,;DGKA,upstream_gene_variant,,ENST00000546995,;DGKA,upstream_gene_variant,,ENST00000549097,;DGKA,upstream_gene_variant,,ENST00000547324,;DGKA,upstream_gene_variant,,ENST00000547358,;DGKA,upstream_gene_variant,,ENST00000402956,;DGKA,upstream_gene_variant,,ENST00000551615,;DGKA,upstream_gene_variant,,ENST00000548479,;DGKA,upstream_gene_variant,,ENST00000548407,;DGKA,upstream_gene_variant,,ENST00000548549,;DGKA,upstream_gene_variant,,ENST00000547535,;	.	201	226	SUCCESS
ERBB3	2065	.	GRCh37	12	56490238	56490238	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	43	0	ENST00000267101.3:c.2056-49G>C		p.*686*	ENST00000267101	NM_001982.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31833.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGGGACATG	NONE	.	.	.	.	.	ENSP00000267101	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODIFIER	17/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,5_prime_UTR_variant,,ENST00000553131,;ERBB3,intron_variant,,ENST00000415288,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,intron_variant,,ENST00000267101,;ERBB3,intron_variant,,ENST00000550070,;RP11-603J24.9,upstream_gene_variant,,ENST00000548861,;ERBB3,upstream_gene_variant,,ENST00000549832,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,intron_variant,,ENST00000551085,;ERBB3,downstream_gene_variant,,ENST00000549644,;ERBB3,downstream_gene_variant,,ENST00000550828,;ERBB3,downstream_gene_variant,,ENST00000549205,;ERBB3,upstream_gene_variant,,ENST00000552691,;ERBB3,upstream_gene_variant,,ENST00000548709,;	.	43	47	SUCCESS
ANKRD52	283373	.	GRCh37	12	56645879	56645879	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	12	69	0	ENST00000267116.7:c.1512A>G		p.X504_splice	ENST00000267116	NM_173595.3	504	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS44920.1	1512	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCTCTGGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000267116	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000267116	Transcript	.	.	ENSG00000139645	26614	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANR52_HUMAN	ANKRD52	HGNC	.	.	UPI0000237861	SNV	ANKRD52,synonymous_variant,p.%3D,ENST00000267116,;ANKRD52,downstream_gene_variant,,ENST00000551023,;ANKRD52,downstream_gene_variant,,ENST00000548081,;	1634	70	87	SUCCESS
B4GALNT3	283358	.	GRCh37	12	667798	667798	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs769337437	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	82	0	ENST00000266383.5:c.2732A>T	p.His911Leu	p.H911L	ENST00000266383	NM_173593.3	911	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS8504.1	2732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCATTGTG	NONE	byFrequency	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000266383	.	18/20	.	.	.	.	.	.	.	.	rs769337437	18/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.04)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.His911Leu,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	2745	82	121	SUCCESS
CAND1	55832	.	GRCh37	12	67692842	67692842	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1323687794	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	35	0	ENST00000545606.1:c.967A>G	p.Met323Val	p.M323V	ENST00000545606	NM_018448.3	323	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS8977.1	967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAATGGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.28)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Met323Val,ENST00000545606,;CAND1,missense_variant,p.Met31Val,ENST00000544619,;CAND1,missense_variant,p.Met205Val,ENST00000540319,;CAND1,downstream_gene_variant,,ENST00000535146,;	1404	35	47	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72037930	72037930	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	116	0	ENST00000378743.3:c.1448A>G	p.Glu483Gly	p.E483G	ENST00000378743	NM_144982.4	483	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41813.1	1448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTTCTTCC	NONE	.	.	hmmpanther:PTHR21563	.	.	ENSP00000368017	.	5/35	.	.	.	.	.	.	.	.	.	5/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.Glu483Gly,ENST00000378743,;SNORA17,downstream_gene_variant,,ENST00000391159,;ZFC3H1,downstream_gene_variant,,ENST00000550712,;ZFC3H1,missense_variant,p.Glu483Gly,ENST00000552994,;	1807	116	113	SUCCESS
E2F7	144455	.	GRCh37	12	77426865	77426865	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	69	0	ENST00000322886.7:c.1347A>T	p.Ala449=	p.A449=	ENST00000322886	NM_203394.2	449	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9016.1	1347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGCCAG	NONE	.	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25	.	.	ENSP00000323246	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000322886	Transcript	.	.	ENSG00000165891	23820	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2F7_HUMAN	E2F7	HGNC	F8VXV5_HUMAN,F8VSE7_HUMAN	.	UPI00001B64A1	SNV	E2F7,synonymous_variant,p.%3D,ENST00000416496,;E2F7,synonymous_variant,p.%3D,ENST00000322886,;E2F7,synonymous_variant,p.%3D,ENST00000550669,;E2F7,downstream_gene_variant,,ENST00000552907,;	1583	69	71	SUCCESS
ACSS3	79611	.	GRCh37	12	81647343	81647343	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	31	178	0	ENST00000548058.1:c.1889T>A	p.Val630Glu	p.V630E	ENST00000548058		630	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS9022.1	1889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGTGGCTG	BUFFER|p.R634*|c.1900C>T|4	.	.	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF0,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801	.	.	ENSP00000449535	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000548058	Transcript	.	.	ENSG00000111058	24723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ACSS3_HUMAN	ACSS3	HGNC	F8VZB4_HUMAN	.	UPI000007060A	SNV	ACSS3,missense_variant,p.Val629Glu,ENST00000261206,;ACSS3,missense_variant,p.Val630Glu,ENST00000548058,;ACSS3,missense_variant,p.Val312Glu,ENST00000548324,;PPFIA2,downstream_gene_variant,,ENST00000549396,;PPFIA2,downstream_gene_variant,,ENST00000550584,;	2799	178	178	SUCCESS
TMTC2	160335	.	GRCh37	12	83251361	83251361	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	76	0	ENST00000321196.3:c.654+2T>A		p.X218_splice	ENST00000321196	NM_152588.1	218		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9025.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTAAGTG	NONE	.	.	.	.	.	ENSP00000322300	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	HIGH	2/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,splice_donor_variant,,ENST00000548305,;TMTC2,splice_donor_variant,,ENST00000321196,;TMTC2,splice_donor_variant,,ENST00000549919,;TMTC2,splice_donor_variant,,ENST00000551915,;TMTC2,intron_variant,,ENST00000546590,;	.	76	88	SUCCESS
TMTC3	160418	.	GRCh37	12	88542128	88542128	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	39	138	0	ENST00000266712.6:c.36A>T	p.Ile12=	p.I12=	ENST00000266712	NM_181783.3	12	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9032.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATAGTAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51257,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF384	.	.	ENSP00000266712	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000266712	Transcript	.	.	ENSG00000139324	26899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMTC3_HUMAN	TMTC3	HGNC	F8W044_HUMAN	.	UPI000004D255	SNV	TMTC3,synonymous_variant,p.%3D,ENST00000549011,;TMTC3,synonymous_variant,p.%3D,ENST00000551088,;TMTC3,synonymous_variant,p.%3D,ENST00000266712,;TMTC3,synonymous_variant,p.%3D,ENST00000547034,;	256	138	200	SUCCESS
ATP2B1	490	.	GRCh37	12	90020267	90020267	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	59	0	ENST00000428670.3:c.1093A>T	p.Lys365Ter	p.K365*	ENST00000428670		365	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS9035.1	1093	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTCCCTT	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01517,Superfamily_domains:0049473	.	.	ENSP00000392043	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000428670	Transcript	.	.	ENSG00000070961	814	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT2B1_HUMAN	ATP2B1	HGNC	Q3L582_HUMAN	.	UPI000002A436	SNV	ATP2B1,stop_gained,p.Lys365Ter,ENST00000428670,;ATP2B1,stop_gained,p.Lys108Ter,ENST00000393164,;ATP2B1,stop_gained,p.Lys365Ter,ENST00000359142,;ATP2B1,stop_gained,p.Lys365Ter,ENST00000261173,;ATP2B1,stop_gained,p.Lys365Ter,ENST00000348959,;	1550	59	61	SUCCESS
ANKS1B	56899	.	GRCh37	12	99898358	99898358	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	58	0	ENST00000547776.2:c.1334C>A	p.Thr445Lys	p.T445K	ENST00000547776	NM_152788.4	445	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS55872.1	1334	RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGTATCC	NONE	.	.	hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3	.	.	ENSP00000449629	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000547776	Transcript	.	.	ENSG00000185046	24600	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.131)	.	tolerated(0.08)	.	ANS1B_HUMAN	ANKS1B	HGNC	R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN	.	UPI00003FE521	SNV	ANKS1B,missense_variant,p.Thr445Lys,ENST00000329257,;ANKS1B,missense_variant,p.Thr411Lys,ENST00000549866,;ANKS1B,missense_variant,p.Thr25Lys,ENST00000547010,;ANKS1B,missense_variant,p.Thr445Lys,ENST00000547776,;ANKS1B,downstream_gene_variant,,ENST00000552232,;	1334	58	105	SUCCESS
MIR623	693208	.	GRCh37	13	100008403	100008403	+	mature_miRNA_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	59	0	ENST00000384986.1:n.19C>G		p.*7*	ENST00000384986				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45064.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCCTTGC	NONE	.	.	.	.	.	ENSP00000383911	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403766	Transcript	.	.	ENSG00000134882	20486	.	.	MODIFIER	7/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBAC2_HUMAN	UBAC2	HGNC	B3KW74_HUMAN	.	UPI000003B0B4	SNV	UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;MIR623,mature_miRNA_variant,,ENST00000384986,;UBAC2,intron_variant,,ENST00000460562,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000480738,;UBAC2,intron_variant,,ENST00000473194,;	.	59	39	SUCCESS
AMER2	219287	.	GRCh37	13	25745258	25745258	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs866338607	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	74	0	ENST00000515384.1:c.500T>C	p.Leu167Pro	p.L167P	ENST00000515384		167	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS53859.1	500	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGCAGC	NONE	.	.	Pfam_domain:PF09422,hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237	.	.	ENSP00000426528	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000515384	Transcript	.	.	ENSG00000165566	26360	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AMER2_HUMAN	AMER2	HGNC	Q8N785_HUMAN	.	UPI0000231C76	SNV	AMER2,missense_variant,p.Leu167Pro,ENST00000515384,;AMER2,missense_variant,p.Leu167Pro,ENST00000357816,;AMER2,missense_variant,p.Leu167Pro,ENST00000381853,;AMER2-AS1,downstream_gene_variant,,ENST00000413501,;	1168	74	67	SUCCESS
WASF3	10810	.	GRCh37	13	27256869	27256869	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147802301	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	50	0	ENST00000335327.5:c.1109C>T	p.Pro370Leu	p.P370L	ENST00000335327	NM_006646.5	370	cCg/cTg	0	.	T:0.0008	.	T:0	.	T	P/L	protein_coding	YES	CCDS9318.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCGTTCC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12902:SF7,hmmpanther:PTHR12902	T:0	.	ENSP00000335055	T:0	9/10	.	.	.	.	.	.	.	.	rs147802301	9/10	PASS	ENST00000335327	Transcript	.	T:0.0002	ENSG00000132970	12734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	T:0	tolerated(0.16)	.	WASF3_HUMAN	WASF3	HGNC	Q5T8P4_HUMAN,B4DGR1_HUMAN	.	UPI000013CEA7	SNV	WASF3,missense_variant,p.Pro367Leu,ENST00000361042,;WASF3,missense_variant,p.Pro370Leu,ENST00000335327,;	1287	50	82	SUCCESS
SMAD9	4093	.	GRCh37	13	37453652	37453652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	63	0	ENST00000379826.4:c.175C>A	p.Leu59Ile	p.L59I	ENST00000379826	NM_001127217.2	59	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS45032.1	175	MUTECT|MUSE	.	GCTGAGAGCCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:0040928,SMART_domains:SM00523,Pfam_domain:PF03165,Gene3D:1ozjA00,hmmpanther:PTHR13703:SF37,hmmpanther:PTHR13703,PROSITE_profiles:PS51075	.	.	ENSP00000369154	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000379826	Transcript	.	.	ENSG00000120693	6774	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.64)	.	SMAD9_HUMAN	SMAD9	HGNC	.	.	UPI0000135A85	SNV	SMAD9,missense_variant,p.Leu59Ile,ENST00000350148,;SMAD9,missense_variant,p.Leu59Ile,ENST00000379826,;SMAD9,missense_variant,p.Leu59Ile,ENST00000399275,;SMAD9,non_coding_transcript_exon_variant,,ENST00000483941,;	518	63	40	SUCCESS
ALG5	29880	.	GRCh37	13	37563694	37563694	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	83	0	ENST00000239891.3:c.374A>G	p.Gln125Arg	p.Q125R	ENST00000239891	NM_013338.4	125	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9361.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTGGCAA	NONE	.	.	hmmpanther:PTHR10859,hmmpanther:PTHR10859:SF42,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000239891	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000239891	Transcript	.	.	ENSG00000120697	20266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.3)	.	ALG5_HUMAN	ALG5	HGNC	.	.	UPI000012583A	SNV	ALG5,splice_acceptor_variant,,ENST00000443765,;ALG5,missense_variant,p.Gln125Arg,ENST00000413537,;ALG5,missense_variant,p.Gln125Arg,ENST00000239891,;ALG5,non_coding_transcript_exon_variant,,ENST00000496689,;	441	83	73	SUCCESS
SLITRK1	114798	.	GRCh37	13	84454782	84454782	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	191	0	ENST00000377084.2:c.861A>T	p.Pro287=	p.P287=	ENST00000377084	NM_052910.2	287	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9464.1	861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTTGGCAG	NONE	.	.	hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,synonymous_variant,p.%3D,ENST00000377084,;	1747	191	111	SUCCESS
DIO3	1735	.	GRCh37	14	102027794	102027794	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	81	0	ENST00000510508.4:c.-40C>G		p.*14*	ENST00000510508				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41992.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCTCCGC	NONE	.	.	.	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,5_prime_UTR_variant,,ENST00000510508,;DIO3,5_prime_UTR_variant,,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	107	81	67	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414392	105414392	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	129	0	ENST00000333244.5:c.7396G>A	p.Glu2466Lys	p.E2466K	ENST00000333244	NM_138420.2	2466	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS45177.1	7396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCCAGCC	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Glu2466Lys,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7516	129	95	SUCCESS
IGHV5-51	28388	.	GRCh37	14	107034964	107034964	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	10	104	0	ENST00000390626.2:c.116T>A	p.Ile39Asn	p.I39N	ENST00000390626		39	aTc/aAc	0	.	.	.	.	.	T	I/N	IG_V_gene	YES	.	116	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGATCTTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375035	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390626	Transcript	.	.	ENSG00000211966	5659	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.097)	.	deleterious(0.01)	.	.	IGHV5-51	HGNC	.	.	UPI000011AAC8	SNV	IGHV5-51,missense_variant,p.Ile39Asn,ENST00000390626,;IGHVIII-51-1,downstream_gene_variant,,ENST00000519403,;	175	104	92	SUCCESS
OR4K15	81127	.	GRCh37	14	20443792	20443792	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	47	0	ENST00000305051.5:c.115C>A	p.Leu39Met	p.L39M	ENST00000305051	NM_001005486.1	39	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS32026.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCTGGGA	NONE	.	.	hmmpanther:PTHR26451:SF287,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305051	Transcript	.	.	ENSG00000169488	15353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	deleterious(0.01)	.	OR4KF_HUMAN	OR4K15	HGNC	.	.	UPI000015F249	SNV	OR4K15,missense_variant,p.Leu39Met,ENST00000305051,;	190	47	50	SUCCESS
MYH6	4624	.	GRCh37	14	23859444	23859444	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	65	0	ENST00000356287.3:c.3554T>A	p.Leu1185Gln	p.L1185Q	ENST00000356287		1185	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS9600.1	3554	RADIA|VARSCANS	.	GCTGCAGCGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000386041	.	26/39	.	.	.	.	.	.	.	.	.	26/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Leu1185Gln,ENST00000405093,;MYH6,missense_variant,p.Leu1185Gln,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	3625	65	67	SUCCESS
MYH7	4625	.	GRCh37	14	23885305	23885305	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751747383	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	80	0	ENST00000355349.3:c.4861G>T	p.Asp1621Tyr	p.D1621Y	ENST00000355349	NM_000257.2	1621	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9601.1	4861	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCTCCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000347507	.	34/40	.	.	.	.	.	.	.	.	rs751747383	34/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Asp1621Tyr,ENST00000355349,;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;	5024	80	68	SUCCESS
FAM179B	0	.	GRCh37	14	45473485	45473485	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	22	123	0	ENST00000361577.3:c.2560A>T	p.Lys854Ter	p.K854*	ENST00000361577	NM_015091.2	854	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS9681.1	2560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTAAAAGC	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,stop_gained,p.Lys854Ter,ENST00000361577,;FAM179B,stop_gained,p.Lys854Ter,ENST00000382233,;FAM179B,stop_gained,p.Lys854Ter,ENST00000361462,;FAM179B,stop_gained,p.Lys173Ter,ENST00000555874,;KLHL28,intron_variant,,ENST00000556239,;FAM179B,intron_variant,,ENST00000557250,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,stop_gained,p.Lys854Ter,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;	2774	123	124	SUCCESS
NID2	22795	.	GRCh37	14	52486849	52486849	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	21	96	0	ENST00000216286.5:c.2722T>A	p.Tyr908Asn	p.Y908N	ENST00000216286	NM_007361.3	908	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS9706.1	2722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTAGCAGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF5,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,Superfamily_domains:SSF57610	.	.	ENSP00000216286	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0.03)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Tyr177Asn,ENST00000556572,;NID2,missense_variant,p.Tyr807Asn,ENST00000541773,;NID2,missense_variant,p.Tyr908Asn,ENST00000216286,;NID2,non_coding_transcript_exon_variant,,ENST00000557051,;	2722	96	115	SUCCESS
C14orf39	317761	.	GRCh37	14	60923752	60923752	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759940478	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	28	181	0	ENST00000321731.3:c.1241G>C	p.Arg414Thr	p.R414T	ENST00000321731	NM_174978.2	414	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS9746.1	1241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTCTCT	NONE	byFrequency	.	.	.	.	ENSP00000324920	.	15/18	.	.	.	.	.	.	.	.	rs759940478	15/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	tolerated(0.16)	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,missense_variant,p.Arg414Thr,ENST00000321731,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;C14orf39,upstream_gene_variant,,ENST00000498565,;	1401	181	171	SUCCESS
RHOJ	57381	.	GRCh37	14	63757723	63757723	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	64	0	ENST00000316754.3:c.626G>A	p.Ser209Asn	p.S209N	ENST00000316754	NM_020663.4	209	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS9757.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGCTGCT	NONE	.	.	hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF17	.	.	ENSP00000316729	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000316754	Transcript	.	.	ENSG00000126785	688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.8)	.	RHOJ_HUMAN	RHOJ	HGNC	.	.	UPI0000133894	SNV	RHOJ,missense_variant,p.Ser209Asn,ENST00000316754,;RHOJ,intron_variant,,ENST00000557447,;	1088	64	78	SUCCESS
GPHN	10243	.	GRCh37	14	67589018	67589018	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768742351	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	28	134	0	ENST00000315266.5:c.1573A>T	p.Ser525Cys	p.S525C	ENST00000315266	NM_001024218.1	525	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9777.1	1672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACAGCAAT	BUFFER|p.R560C|c.1678C>T|3	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF00994,TIGRFAM_domain:TIGR00177,Gene3D:3.40.980.10,SMART_domains:SM00852,Superfamily_domains:SSF53218	.	.	ENSP00000417901	.	17/23	.	.	.	.	.	.	.	.	rs768742351	17/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,missense_variant,p.Ser50Cys,ENST00000555503,;GPHN,missense_variant,p.Ser571Cys,ENST00000543237,;GPHN,missense_variant,p.Ser494Cys,ENST00000305960,;GPHN,missense_variant,p.Ser558Cys,ENST00000478722,;GPHN,missense_variant,p.Ser525Cys,ENST00000315266,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,non_coding_transcript_exon_variant,,ENST00000555527,;	2793	134	156	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68264872	68264872	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	62	0	ENST00000347230.4:c.2107A>T	p.Ser703Cys	p.S703C	ENST00000347230	NM_015346.3	703	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS9788.1	2107	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCTGCGGC	BUFFER|p.S700N|c.2099G>A|3	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115	.	.	ENSP00000251119	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.163)	.	tolerated(0.06)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Ser703Cys,ENST00000555452,;ZFYVE26,missense_variant,p.Ser703Cys,ENST00000347230,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;RP11-1012A1.7,upstream_gene_variant,,ENST00000557141,;	2246	62	65	SUCCESS
COQ6	51004	.	GRCh37	14	74428174	74428177	+	frameshift_variant	Frame_Shift_Del	DEL	GTCC	GTCC	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	GTCC	GTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	78	0	ENST00000334571.2:c.1111_1114del	p.Val371IlefsTer32	p.V371Ifs*32	ENST00000334571	NM_182476.2	371	GTCCat/at	0	.	.	.	.	.	-	VH/X	protein_coding	YES	CCDS9823.1	1111-1114	INDELOCATOR*|VARSCANI*|PINDEL	.	CACAGAGTCCATCCG	NONE	.	.	hmmpanther:PTHR13789:SF5,hmmpanther:PTHR13789,PROSITE_patterns:PS01304,TIGRFAM_domain:TIGR01988,Gene3D:3.50.50.60,Pfam_domain:PF01494,TIGRFAM_domain:TIGR01989,Superfamily_domains:SSF51905,Prints_domain:PR00420	.	.	ENSP00000333946	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000334571	Transcript	.	.	ENSG00000119723	20233	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COQ6_HUMAN	COQ6	HGNC	G3V2W8_HUMAN	.	UPI0000127F00	deletion	COQ6,frameshift_variant,p.Val296IlefsTer32,ENST00000238709,;COQ6,frameshift_variant,p.Val371IlefsTer32,ENST00000334571,;COQ6,frameshift_variant,p.Val346IlefsTer32,ENST00000394026,;ENTPD5,3_prime_UTR_variant,,ENST00000555829,;COQ6,intron_variant,,ENST00000554920,;ENTPD5,intron_variant,,ENST00000557325,;ENTPD5,downstream_gene_variant,,ENST00000334696,;COQ6,downstream_gene_variant,,ENST00000554320,;COQ6,non_coding_transcript_exon_variant,,ENST00000557780,;COQ6,downstream_gene_variant,,ENST00000555552,;COQ6,3_prime_UTR_variant,,ENST00000554341,;COQ6,non_coding_transcript_exon_variant,,ENST00000556299,;COQ6,non_coding_transcript_exon_variant,,ENST00000556588,;COQ6,downstream_gene_variant,,ENST00000554153,;COQ6,downstream_gene_variant,,ENST00000557584,;COQ6,downstream_gene_variant,,ENST00000555392,;COQ6,downstream_gene_variant,,ENST00000553448,;COQ6,downstream_gene_variant,,ENST00000555511,;COQ6,downstream_gene_variant,,ENST00000556300,;COQ6,downstream_gene_variant,,ENST00000553462,;COQ6,downstream_gene_variant,,ENST00000557205,;COQ6,downstream_gene_variant,,ENST00000555196,;	1151-1154	78	61	SUCCESS
LTBP2	4053	.	GRCh37	14	75018988	75018988	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371940681	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	135	0	ENST00000261978.4:c.1301C>T	p.Pro434Leu	p.P434L	ENST00000261978	NM_000428.2	434	cCg/cTg	0	A:0	.	.	.	.	A	P/L	protein_coding	YES	CCDS9831.1	1301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGGCTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24034:SF40,hmmpanther:PTHR24034	.	A:0.0001	ENSP00000261978	.	6/36	.	.	.	.	.	.	.	.	rs371940681	6/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.21)	.	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,missense_variant,p.Pro434Leu,ENST00000261978,;LTBP2,missense_variant,p.Pro434Leu,ENST00000556690,;LTBP2,intron_variant,,ENST00000556359,;CTD-2207P18.1,non_coding_transcript_exon_variant,,ENST00000554552,;LTBP2,intron_variant,,ENST00000557425,;LTBP2,missense_variant,p.Pro434Leu,ENST00000553939,;	1688	135	93	SUCCESS
KCNK13	56659	.	GRCh37	14	90650745	90650745	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	104	0	ENST00000282146.4:c.625T>C	p.Ser209Pro	p.S209P	ENST00000282146	NM_022054.3	209	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS9889.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTCTTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF57,hmmpanther:PTHR11003,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324	.	.	ENSP00000282146	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282146	Transcript	.	.	ENSG00000152315	6275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0.01)	.	KCNKD_HUMAN	KCNK13	HGNC	B5TJL8_HUMAN	.	UPI0000127A55	SNV	KCNK13,missense_variant,p.Ser209Pro,ENST00000282146,;	1066	104	75	SUCCESS
SERPINA12	145264	.	GRCh37	14	94964148	94964148	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	121	1	ENST00000341228.2:c.587T>C	p.Ile196Thr	p.I196T	ENST00000341228	NM_173850.2	196	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS9926.1	587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTATATTC	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF149,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000342109	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000341228	Transcript	.	.	ENSG00000165953	18359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	SPA12_HUMAN	SERPINA12	HGNC	.	.	UPI000000D86C	SNV	SERPINA12,missense_variant,p.Ile196Thr,ENST00000556881,;SERPINA12,missense_variant,p.Ile196Thr,ENST00000341228,;	1383	123	67	SUCCESS
DICER1	23405	.	GRCh37	14	95577654	95577654	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	95	0	ENST00000343455.3:c.2256A>T		p.X752_splice	ENST00000343455	NM_177438.2	752	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9931.1	2256	RADIA|MUTECT|MUSE|VARSCANS	.	CTAACTGCTTT	NONE	.	.	hmmpanther:PTHR14950:SF3,hmmpanther:PTHR14950	.	.	ENSP00000437256	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000526495	Transcript	1	.	ENSG00000100697	17098	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DICER_HUMAN	DICER1	HGNC	Q5D0K5_HUMAN,B3KMJ0_HUMAN	.	UPI0000168662	SNV	DICER1,synonymous_variant,p.%3D,ENST00000343455,;DICER1,synonymous_variant,p.%3D,ENST00000526495,;DICER1,synonymous_variant,p.%3D,ENST00000541352,;DICER1,synonymous_variant,p.%3D,ENST00000393063,;DICER1,synonymous_variant,p.%3D,ENST00000527414,;DICER1,downstream_gene_variant,,ENST00000532458,;DICER1,upstream_gene_variant,,ENST00000556681,;	2548	95	67	SUCCESS
ALDH1A3	220	.	GRCh37	15	101420114	101420114	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	83	0	ENST00000329841.5:c.2T>C	p.Met1?	p.M1?	ENST00000329841	NM_000693.2	1	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS10389.1	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATGGCCA	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF154	.	.	ENSP00000332256	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000329841	Transcript	1	.	ENSG00000184254	409	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	deleterious_low_confidence(0)	.	AL1A3_HUMAN	ALDH1A3	HGNC	.	.	UPI00001AFAF8	SNV	ALDH1A3,start_lost,p.Met1?,ENST00000346623,;ALDH1A3,start_lost,p.Met1?,ENST00000557963,;ALDH1A3,start_lost,p.Met1?,ENST00000329841,;ALDH1A3,intron_variant,,ENST00000561338,;ALDH1A3,non_coding_transcript_exon_variant,,ENST00000560555,;RP11-66B24.8,intron_variant,,ENST00000558568,;ALDH1A3,start_lost,p.Met1?,ENST00000558033,;	534	83	89	SUCCESS
ATP10A	57194	.	GRCh37	15	25971123	25971123	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	51	0	ENST00000356865.6:c.954T>C	p.Val318=	p.V318=	ENST00000356865	NM_024490.3	318	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS32178.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAAACAAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049473	.	.	ENSP00000349325	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,synonymous_variant,p.%3D,ENST00000356865,;ATP10A,synonymous_variant,p.%3D,ENST00000555815,;	1066	51	41	SUCCESS
RYR3	6263	.	GRCh37	15	34072456	34072456	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	13	119	0	ENST00000389232.4:c.9182C>T	p.Ala3061Val	p.A3061V	ENST00000389232	NM_001036.3	3061	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45210.1	9182	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCATAC	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	65/104	.	.	.	.	.	.	.	.	COSM4054074	65/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.96)	.	.	1	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Ala3061Val,ENST00000389232,;RYR3,missense_variant,p.Ala3061Val,ENST00000415757,;	9252	119	90	SUCCESS
AQR	9716	.	GRCh37	15	35253000	35253000	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	36	159	0	ENST00000156471.5:c.148T>C	p.Tyr50His	p.Y50H	ENST00000156471	NM_014691.2	50	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS42013.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATATATAT	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901	.	.	ENSP00000156471	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	deleterious(0)	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,missense_variant,p.Tyr79His,ENST00000560117,;AQR,missense_variant,p.Tyr50His,ENST00000156471,;AQR,missense_variant,p.Tyr50His,ENST00000543879,;AQR,non_coding_transcript_exon_variant,,ENST00000558202,;	374	159	182	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40226374	40226374	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	19	0	ENST00000263791.5:c.-23C>G		p.*8*	ENST00000263791	NM_001013703.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42016.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCCTGCC	NONE	.	.	.	.	.	ENSP00000263791	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,5_prime_UTR_variant,,ENST00000382727,;EIF2AK4,5_prime_UTR_variant,,ENST00000263791,;EIF2AK4,5_prime_UTR_variant,,ENST00000559624,;EIF2AK4,upstream_gene_variant,,ENST00000560648,;	21	19	27	SUCCESS
PLA2G4E	123745	.	GRCh37	15	42302319	42302319	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	41	83	0	ENST00000399518.3:c.257-2256G>C		p.*86*	ENST00000399518	NM_001206670.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55962.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCCAGAA	NONE	.	.	.	.	.	ENSP00000382434	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399518	Transcript	.	.	ENSG00000188089	24791	.	.	MODIFIER	2/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLA2G4E	HGNC	B7WPN2_HUMAN	.	UPI0000E59BE5	SNV	PLA2G4E,missense_variant,p.Glu43Gln,ENST00000413860,;PLA2G4E,intron_variant,,ENST00000399518,;CTD-2382E5.2,downstream_gene_variant,,ENST00000552704,;	.	83	82	SUCCESS
SEMA6D	80031	.	GRCh37	15	48062884	48062884	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	106	0	ENST00000316364.5:c.2124A>G	p.Thr708=	p.T708=	ENST00000316364	NM_153618.1	708	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS32225.1	2124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACAGACTC	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,synonymous_variant,p.%3D,ENST00000389432,;SEMA6D,synonymous_variant,p.%3D,ENST00000560006,;SEMA6D,synonymous_variant,p.%3D,ENST00000537942,;SEMA6D,synonymous_variant,p.%3D,ENST00000358066,;SEMA6D,synonymous_variant,p.%3D,ENST00000354744,;SEMA6D,synonymous_variant,p.%3D,ENST00000389428,;SEMA6D,synonymous_variant,p.%3D,ENST00000536845,;SEMA6D,synonymous_variant,p.%3D,ENST00000389433,;SEMA6D,synonymous_variant,p.%3D,ENST00000558014,;SEMA6D,synonymous_variant,p.%3D,ENST00000316364,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	2563	106	89	SUCCESS
LEO1	123169	.	GRCh37	15	52244087	52244087	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	9	60	0	ENST00000299601.5:c.1565C>T	p.Pro522Leu	p.P522L	ENST00000299601	NM_138792.2	522	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10146.1	1565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTGGCAAG	NONE	.	.	hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146,Pfam_domain:PF04004	.	.	ENSP00000299601	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,missense_variant,p.Pro462Leu,ENST00000315141,;LEO1,missense_variant,p.Pro522Leu,ENST00000299601,;TMOD3,downstream_gene_variant,,ENST00000561408,;TMOD3,downstream_gene_variant,,ENST00000559202,;MAPK6,upstream_gene_variant,,ENST00000560802,;TMOD3,downstream_gene_variant,,ENST00000558300,;TMOD3,downstream_gene_variant,,ENST00000558714,;LEO1,downstream_gene_variant,,ENST00000558949,;	1626	60	59	SUCCESS
RNF111	54778	.	GRCh37	15	59350608	59350608	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201513331	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	74	0	ENST00000557998.1:c.1225G>C	p.Ala409Pro	p.A409P	ENST00000557998	NM_001270530.1	409	Gct/Cct	0	.	A:0.0015	.	A:0	.	C	A/P	protein_coding	YES	CCDS58365.1	1225	RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCGCTTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF1	A:0	.	ENSP00000453872	A:0	5/14	.	.	.	.	.	.	.	.	rs201513331	5/14	PASS	ENST00000559209	Transcript	.	A:0.0006	ENSG00000157450	17384	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.701)	A:0.001	deleterious_low_confidence(0.01)	.	RN111_HUMAN	RNF111	HGNC	H0YKS2_HUMAN	.	UPI0000EE4EBD	SNV	RNF111,missense_variant,p.Ala409Pro,ENST00000434298,;RNF111,missense_variant,p.Ala142Pro,ENST00000559592,;RNF111,missense_variant,p.Ala409Pro,ENST00000561186,;RNF111,missense_variant,p.Ala409Pro,ENST00000557998,;RNF111,missense_variant,p.Ala409Pro,ENST00000348370,;RNF111,missense_variant,p.Ala409Pro,ENST00000559209,;	1361	74	72	SUCCESS
HCN4	10021	.	GRCh37	15	73636059	73636059	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	31	122	0	ENST00000261917.3:c.876del	p.Thr293HisfsTer43	p.T293Hfs*43	ENST00000261917	NM_005477.2	292	acC/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS10248.1	876	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTGTGGTGTT	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:1.10.287.70,Pfam_domain:PF08412,Superfamily_domains:SSF81324	.	.	ENSP00000261917	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	deletion	HCN4,frameshift_variant,p.Thr293HisfsTer43,ENST00000261917,;RP11-272D12.1,downstream_gene_variant,,ENST00000557981,;RP11-272D12.1,downstream_gene_variant,,ENST00000558742,;	1870	122	179	SUCCESS
C15orf60	0	.	GRCh37	15	73843382	73843382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	40	184	0	ENST00000331090.6:c.437T>C	p.Val146Ala	p.V146A	ENST00000331090	NM_001042367.1	146	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS45296.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCGTGCAGG	NONE	.	.	Pfam_domain:PF15165	.	.	ENSP00000328423	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000331090	Transcript	.	.	ENSG00000183324	25065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	R114L_HUMAN	C15orf60	HGNC	.	.	UPI0000161A3A	SNV	C15orf60,missense_variant,p.Val146Ala,ENST00000331090,;C15orf60,missense_variant,p.Val118Ala,ENST00000560581,;	465	184	169	SUCCESS
CLK3	1198	.	GRCh37	15	74914530	74914530	+	synonymous_variant	Silent	SNP	C	C	A	rs751508782	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	98	0	ENST00000395066.3:c.883C>A	p.Arg295=	p.R295=	ENST00000395066	NM_001130028.1	295	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45304.1	883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCGGATC	NONE	.	.	hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF3,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000378505	.	4/13	.	.	.	.	.	.	.	.	rs751508782,COSM1374547,COSM1374546	4/13	PASS	ENST00000395066	Transcript	.	.	ENSG00000179335	2071	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	CLK3_HUMAN	CLK3	HGNC	H3BVF8_HUMAN,H3BUL5_HUMAN,H3BTW9_HUMAN,H3BRT8_HUMAN,H3BRE4_HUMAN,B3KTV2_HUMAN	.	UPI0001529A1B	SNV	CLK3,synonymous_variant,p.%3D,ENST00000568139,;CLK3,synonymous_variant,p.%3D,ENST00000352989,;CLK3,synonymous_variant,p.%3D,ENST00000566126,;CLK3,synonymous_variant,p.%3D,ENST00000564096,;CLK3,synonymous_variant,p.%3D,ENST00000395066,;CLK3,synonymous_variant,p.%3D,ENST00000345005,;CLK3,intron_variant,,ENST00000563297,;CLK3,intron_variant,,ENST00000348245,;CLK3,intron_variant,,ENST00000562670,;CLK3,intron_variant,,ENST00000568488,;CLK3,upstream_gene_variant,,ENST00000563842,;CLK3,downstream_gene_variant,,ENST00000562389,;CLK3,non_coding_transcript_exon_variant,,ENST00000454830,;CLK3,non_coding_transcript_exon_variant,,ENST00000569406,;CLK3,non_coding_transcript_exon_variant,,ENST00000563112,;CLK3,non_coding_transcript_exon_variant,,ENST00000568605,;CLK3,intron_variant,,ENST00000483723,;CLK3,intron_variant,,ENST00000569063,;CLK3,upstream_gene_variant,,ENST00000562078,;CLK3,downstream_gene_variant,,ENST00000570296,;CLK3,upstream_gene_variant,,ENST00000564468,;	1344	98	104	SUCCESS
IREB2	3658	.	GRCh37	15	78765662	78765662	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	23	131	0	ENST00000258886.8:c.962A>T	p.Glu321Val	p.E321V	ENST00000258886	NM_004136.2	321	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10302.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGAGTTAA	NONE	.	.	hmmpanther:PTHR11670:SF31,hmmpanther:PTHR11670,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Gene3D:3.40.1060.10,Superfamily_domains:SSF53732	.	.	ENSP00000258886	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000258886	Transcript	.	.	ENSG00000136381	6115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.481)	.	deleterious(0)	.	IREB2_HUMAN	IREB2	HGNC	H0YLE0_HUMAN	.	UPI00001C1F8E	SNV	IREB2,missense_variant,p.Glu321Val,ENST00000258886,;IREB2,missense_variant,p.Glu321Val,ENST00000560440,;IREB2,downstream_gene_variant,,ENST00000559427,;IREB2,3_prime_UTR_variant,,ENST00000558570,;IREB2,downstream_gene_variant,,ENST00000558525,;	1111	131	128	SUCCESS
CIITA	4261	.	GRCh37	16	11001808	11001808	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	77	0	ENST00000324288.8:c.2459G>T	p.Gly820Val	p.G820V	ENST00000324288	NM_000246.3	820	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10544.1	2459	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGAATTT	NONE	.	.	hmmpanther:PTHR24106:SF104,hmmpanther:PTHR24106,Gene3D:3.80.10.10	.	.	ENSP00000316328	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000324288	Transcript	.	.	ENSG00000179583	7067	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.288)	.	tolerated(0.51)	.	C2TA_HUMAN	CIITA	HGNC	I3L2E5_HUMAN	.	UPI0000456914	SNV	CIITA,missense_variant,p.Gly820Val,ENST00000324288,;CIITA,intron_variant,,ENST00000381835,;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;	2592	77	78	SUCCESS
RHBDF1	64285	.	GRCh37	16	111826	111826	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	45	0	ENST00000262316.6:c.1178A>T	p.Lys393Met	p.K393M	ENST00000262316	NM_022450.3	393	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS32344.1	1178	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCTTGACG	NONE	.	.	hmmpanther:PTHR22936:SF6,hmmpanther:PTHR22936	.	.	ENSP00000262316	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000262316	Transcript	.	.	ENSG00000007384	20561	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.75)	.	deleterious(0)	.	RHDF1_HUMAN	RHBDF1	HGNC	A2IDA2_HUMAN	.	UPI00001A5206	SNV	RHBDF1,missense_variant,p.Lys393Met,ENST00000454039,;RHBDF1,missense_variant,p.Lys393Met,ENST00000262316,;SNRNP25,downstream_gene_variant,,ENST00000383018,;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000419764,;RHBDF1,downstream_gene_variant,,ENST00000450643,;SNRNP25,downstream_gene_variant,,ENST00000293861,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;RHBDF1,non_coding_transcript_exon_variant,,ENST00000482904,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,upstream_gene_variant,,ENST00000493647,;SNRNP25,downstream_gene_variant,,ENST00000397876,;SNRNP25,downstream_gene_variant,,ENST00000481947,;RHBDF1,downstream_gene_variant,,ENST00000417043,;RHBDF1,upstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000472390,;SNRNP25,downstream_gene_variant,,ENST00000466183,;	1321	45	64	SUCCESS
RSL1D1	26156	.	GRCh37	16	11933580	11933580	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758401490	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	73	0	ENST00000571133.1:c.1118A>G	p.Lys373Arg	p.K373R	ENST00000571133	NM_015659.2	373	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10551.1	1118	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTTCCT	NONE	.	.	.	.	.	ENSP00000460871	.	8/9	.	.	.	.	.	.	.	.	rs758401490	8/9	PASS	ENST00000571133	Transcript	.	.	ENSG00000171490	24534	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.51)	.	RL1D1_HUMAN	RSL1D1	HGNC	I3L234_HUMAN,B4DJ58_HUMAN	.	UPI000007374D	SNV	RSL1D1,missense_variant,p.Lys153Arg,ENST00000542106,;RSL1D1,missense_variant,p.Lys372Arg,ENST00000355674,;RSL1D1,missense_variant,p.Lys373Arg,ENST00000571133,;RSL1D1,downstream_gene_variant,,ENST00000573251,;RSL1D1,3_prime_UTR_variant,,ENST00000573618,;RSL1D1,3_prime_UTR_variant,,ENST00000396503,;RSL1D1,3_prime_UTR_variant,,ENST00000573029,;RSL1D1,downstream_gene_variant,,ENST00000570767,;RSL1D1,downstream_gene_variant,,ENST00000574823,;	1191	73	78	SUCCESS
CACNA1H	8912	.	GRCh37	16	1261288	1261288	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	10	78	0	ENST00000348261.5:c.4344T>A	p.Gly1448=	p.G1448=	ENST00000348261	NM_021098.2	1448	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45375.1	4344	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGTGTGCA	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192,Transmembrane_helices:TMhelix	.	.	ENSP00000334198	.	22/35	.	.	.	.	.	.	.	.	.	22/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,synonymous_variant,p.%3D,ENST00000562079,;CACNA1H,synonymous_variant,p.%3D,ENST00000348261,;CACNA1H,synonymous_variant,p.%3D,ENST00000564231,;CACNA1H,synonymous_variant,p.%3D,ENST00000565831,;CACNA1H,synonymous_variant,p.%3D,ENST00000358590,;CACNA1H,synonymous_variant,p.%3D,ENST00000569107,;CACNA1H,upstream_gene_variant,,ENST00000564927,;RP11-616M22.3,upstream_gene_variant,,ENST00000564700,;CACNA1H,non_coding_transcript_exon_variant,,ENST00000569953,;	4592	78	83	SUCCESS
CLCN7	1186	.	GRCh37	16	1496643	1496643	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	20	153	0	ENST00000382745.4:c.2407G>A	p.Ala803Thr	p.A803T	ENST00000382745	NM_001287.5	803	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32361.1	2407	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCAGCG	NONE	.	.	hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689	.	.	ENSP00000372193	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000382745	Transcript	.	.	ENSG00000103249	2025	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.22)	.	CLCN7_HUMAN	CLCN7	HGNC	Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN	.	UPI000004904C	SNV	CLCN7,missense_variant,p.Ala779Thr,ENST00000448525,;CLCN7,missense_variant,p.Gly779Asp,ENST00000262318,;CLCN7,missense_variant,p.Ala803Thr,ENST00000382745,;CCDC154,upstream_gene_variant,,ENST00000389176,;CCDC154,upstream_gene_variant,,ENST00000409671,;LA16c-390E6.5,downstream_gene_variant,,ENST00000566287,;CLCN7,non_coding_transcript_exon_variant,,ENST00000565092,;CLCN7,non_coding_transcript_exon_variant,,ENST00000563642,;CLCN7,downstream_gene_variant,,ENST00000567789,;CLCN7,downstream_gene_variant,,ENST00000567836,;	3013	153	139	SUCCESS
USP31	57478	.	GRCh37	16	23083412	23083412	+	synonymous_variant	Silent	SNP	C	C	A	rs546697725	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	52	0	ENST00000219689.7:c.2442G>T	p.Ser814=	p.S814=	ENST00000219689	NM_020718.3	814	tcG/tcT	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS10607.1	2442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCGACGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF400,Low_complexity_(Seg):seg	T:0	.	ENSP00000219689	T:0	15/16	.	.	.	.	.	.	.	.	rs546697725	15/16	PASS	ENST00000219689	Transcript	.	T:0.0018	ENSG00000103404	20060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0092	.	.	UBP31_HUMAN	USP31	HGNC	.	.	UPI0000366B06	SNV	USP31,synonymous_variant,p.%3D,ENST00000219689,;USP31,synonymous_variant,p.%3D,ENST00000567975,;USP31,non_coding_transcript_exon_variant,,ENST00000381162,;	2442	52	60	SUCCESS
ABCA3	21	.	GRCh37	16	2348419	2348419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	22	133	0	ENST00000301732.5:c.1864A>G	p.Thr622Ala	p.T622A	ENST00000301732	NM_001089.2	622	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10466.1	1864	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTCAAGT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000301732	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,missense_variant,p.Thr564Ala,ENST00000382381,;ABCA3,missense_variant,p.Thr622Ala,ENST00000301732,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	2565	133	166	SUCCESS
LCMT1	51451	.	GRCh37	16	25162880	25162880	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	75	1	ENST00000399069.3:c.410A>G	p.Lys137Arg	p.K137R	ENST00000399069	NM_016309.2	137	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS45445.1	410	MUTECT|SOMATICSNIPER|VARSCANS	.	ATGCAAGCCTC	NONE	.	.	hmmpanther:PTHR13600:SF6,hmmpanther:PTHR13600,Gene3D:3.40.50.150,Pfam_domain:PF04072,PIRSF_domain:PIRSF016305,Superfamily_domains:SSF53335	.	.	ENSP00000382021	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000399069	Transcript	.	.	ENSG00000205629	17557	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.43)	.	LCMT1_HUMAN	LCMT1	HGNC	I3L2Q8_HUMAN	.	UPI0000000C29	SNV	LCMT1,missense_variant,p.Lys137Arg,ENST00000399069,;LCMT1,intron_variant,,ENST00000380966,;RP11-266L9.2,upstream_gene_variant,,ENST00000562280,;LCMT1,non_coding_transcript_exon_variant,,ENST00000572869,;LCMT1,non_coding_transcript_exon_variant,,ENST00000573435,;LCMT1,non_coding_transcript_exon_variant,,ENST00000577157,;LCMT1,missense_variant,p.Lys27Arg,ENST00000576625,;LCMT1,3_prime_UTR_variant,,ENST00000380962,;LCMT1,intron_variant,,ENST00000576382,;LCMT1,intron_variant,,ENST00000564011,;	565	76	89	SUCCESS
HS3ST4	9951	.	GRCh37	16	25703870	25703870	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	17	0	ENST00000331351.5:c.132T>C	p.Ser44=	p.S44=	ENST00000331351	NM_006040.2	44	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS53995.1	132	MUTECT|MUSE	.	CTGTCTGTCAC	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11	.	.	ENSP00000330606	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331351	Transcript	.	.	ENSG00000182601	5200	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HS3S4_HUMAN	HS3ST4	HGNC	A5H458_HUMAN	.	UPI000040938A	SNV	HS3ST4,synonymous_variant,p.%3D,ENST00000331351,;	524	17	24	SUCCESS
ITGAX	3687	.	GRCh37	16	31374277	31374277	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	166	0	ENST00000268296.4:c.1381T>A	p.Ser461Thr	p.S461T	ENST00000268296	NM_000887.3	461	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS10711.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTCCCTC	NONE	.	.	Prints_domain:PR01185,Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220,PROSITE_profiles:PS51470	.	.	ENSP00000268296	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000268296	Transcript	.	.	ENSG00000140678	6152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	tolerated(0.19)	.	ITAX_HUMAN	ITGAX	HGNC	B4DDX0_HUMAN	.	UPI00001C0366	SNV	ITGAX,missense_variant,p.Ser461Thr,ENST00000562522,;ITGAX,missense_variant,p.Ser461Thr,ENST00000268296,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	1502	166	171	SUCCESS
ADCY9	115	.	GRCh37	16	4015970	4015970	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	19	84	0	ENST00000294016.3:c.3868A>G	p.Lys1290Glu	p.K1290E	ENST00000294016	NM_001116.3	1290	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32382.1	3868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTTGTCCA	NONE	.	.	.	.	.	ENSP00000294016	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000294016	Transcript	.	.	ENSG00000162104	240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.05)	.	ADCY9_HUMAN	ADCY9	HGNC	.	.	UPI000012887F	SNV	ADCY9,missense_variant,p.Lys1290Glu,ENST00000294016,;ADCY9,intron_variant,,ENST00000576936,;	4407	84	112	SUCCESS
CORO7	79585	.	GRCh37	16	4405166	4405166	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	21	139	0	ENST00000251166.4:c.2773-2A>T		p.X925_splice	ENST00000251166	NM_024535.4	925		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10513.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTGGGGC	NONE	.	.	.	.	.	ENSP00000251166	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251166	Transcript	.	.	ENSG00000262246	26161	.	.	HIGH	27/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CORO7_HUMAN	CORO7	HGNC	I3L258_HUMAN,B3KSY4_HUMAN	.	UPI00001FF898	SNV	CORO7,splice_acceptor_variant,,ENST00000539968,;CORO7,splice_acceptor_variant,,ENST00000574025,;CORO7,splice_acceptor_variant,,ENST00000251166,;CORO7,splice_acceptor_variant,,ENST00000537233,;CORO7,missense_variant,p.Arg174Trp,ENST00000570779,;CORO7-PAM16,intron_variant,,ENST00000572467,;PAM16,intron_variant,,ENST00000576217,;PAM16,upstream_gene_variant,,ENST00000577031,;PAM16,upstream_gene_variant,,ENST00000318059,;CORO7-PAM16,intron_variant,,ENST00000572274,;PAM16,upstream_gene_variant,,ENST00000575942,;PAM16,upstream_gene_variant,,ENST00000573614,;CORO7,splice_acceptor_variant,,ENST00000571227,;CORO7,splice_acceptor_variant,,ENST00000576637,;CORO7-PAM16,intron_variant,,ENST00000575334,;PAM16,upstream_gene_variant,,ENST00000571178,;CORO7,downstream_gene_variant,,ENST00000575714,;CORO7,downstream_gene_variant,,ENST00000572666,;CORO7,downstream_gene_variant,,ENST00000574849,;PAM16,upstream_gene_variant,,ENST00000575636,;CORO7,downstream_gene_variant,,ENST00000575531,;PAM16,upstream_gene_variant,,ENST00000571986,;CORO7,downstream_gene_variant,,ENST00000572125,;	.	139	145	SUCCESS
CES2	8824	.	GRCh37	16	66969499	66969499	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	91	0	ENST00000317091.4:c.153G>T	p.Gln51His	p.Q51H	ENST00000317091	NM_003869.5	51	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS10825.1	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCGTGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000317842	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000317091	Transcript	.	.	ENSG00000172831	1864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	deleterious(0.02)	.	EST2_HUMAN	CES2	HGNC	J3QLP1_HUMAN,J3QKN7_HUMAN	.	UPI0000074733	SNV	CES2,missense_variant,p.Gln51His,ENST00000317091,;CES2,missense_variant,p.Gln51His,ENST00000417689,;CES2,intron_variant,,ENST00000561697,;FAM96B,upstream_gene_variant,,ENST00000567511,;FAM96B,upstream_gene_variant,,ENST00000568572,;CES2,downstream_gene_variant,,ENST00000566182,;FAM96B,upstream_gene_variant,,ENST00000422424,;CES2,missense_variant,p.Gln51His,ENST00000570032,;CES2,missense_variant,p.Gln51His,ENST00000568470,;CES2,non_coding_transcript_exon_variant,,ENST00000566359,;CES2,upstream_gene_variant,,ENST00000561843,;FAM96B,upstream_gene_variant,,ENST00000569299,;FAM96B,upstream_gene_variant,,ENST00000562362,;FAM96B,upstream_gene_variant,,ENST00000563490,;	1137	91	51	SUCCESS
ZFHX3	463	.	GRCh37	16	72830306	72830306	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1315564329	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	45	0	ENST00000268489.5:c.6275T>C	p.Met2092Thr	p.M2092T	ENST00000268489	NM_006885.3	2092	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS10908.1	6275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCATCGGC	NONE	.	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208	.	.	ENSP00000268489	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.769)	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Met1178Thr,ENST00000397992,;ZFHX3,missense_variant,p.Met2092Thr,ENST00000268489,;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;	6948	45	34	SUCCESS
TAF1C	9013	.	GRCh37	16	84215474	84215474	+	synonymous_variant	Silent	SNP	G	G	A	rs780240179	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	166	0	ENST00000567759.1:c.912C>T	p.Ser304=	p.S304=	ENST00000567759	NM_005679.3	304	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32496.1	912	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGGAGGG	NONE	.	.	hmmpanther:PTHR15319,hmmpanther:PTHR15319:SF0,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000455265	.	8/14	.	.	.	.	.	.	.	.	rs780240179	8/14	PASS	ENST00000567759	Transcript	.	.	ENSG00000103168	11534	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TAF1C_HUMAN	TAF1C	HGNC	H3BQZ8_HUMAN,H3BNH3_HUMAN	.	UPI0000167B3A	SNV	TAF1C,synonymous_variant,p.%3D,ENST00000378541,;TAF1C,synonymous_variant,p.%3D,ENST00000567759,;TAF1C,splice_region_variant,,ENST00000541676,;TAF1C,splice_region_variant,,ENST00000341690,;TAF1C,splice_region_variant,,ENST00000566732,;TAF1C,splice_region_variant,,ENST00000570117,;DNAAF1,downstream_gene_variant,,ENST00000378553,;TAF1C,upstream_gene_variant,,ENST00000568265,;DNAAF1,downstream_gene_variant,,ENST00000564928,;TAF1C,downstream_gene_variant,,ENST00000564454,;TAF1C,downstream_gene_variant,,ENST00000564345,;TAF1C,downstream_gene_variant,,ENST00000561955,;DNAAF1,downstream_gene_variant,,ENST00000569735,;TAF1C,downstream_gene_variant,,ENST00000565544,;DNAAF1,downstream_gene_variant,,ENST00000563818,;TAF1C,splice_region_variant,,ENST00000563428,;TAF1C,splice_region_variant,,ENST00000537450,;TAF1C,splice_region_variant,,ENST00000564774,;TAF1C,splice_region_variant,,ENST00000564208,;TAF1C,splice_region_variant,,ENST00000566903,;TAF1C,splice_region_variant,,ENST00000544090,;TAF1C,non_coding_transcript_exon_variant,,ENST00000570270,;TAF1C,downstream_gene_variant,,ENST00000562330,;TAF1C,downstream_gene_variant,,ENST00000569505,;DNAAF1,downstream_gene_variant,,ENST00000562024,;TAF1C,upstream_gene_variant,,ENST00000562445,;TAF1C,downstream_gene_variant,,ENST00000566183,;TAF1C,downstream_gene_variant,,ENST00000565279,;DNAAF1,downstream_gene_variant,,ENST00000570298,;TAF1C,downstream_gene_variant,,ENST00000569609,;	1095	166	122	SUCCESS
TTC19	54902	.	GRCh37	17	15907197	15907197	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	230	46	244	1	ENST00000261647.5:c.515A>T	p.Lys172Met	p.K172M	ENST00000261647	NM_001271420.1	172	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS11174.2	515	RADIA|MUTECT|MUSE|VARSCANS	.	CATGAAGCAGG	NONE	.	.	hmmpanther:PTHR13143,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000261647	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000261647	Transcript	.	.	ENSG00000011295	26006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.77)	.	deleterious(0.01)	.	TTC19_HUMAN	TTC19	HGNC	.	.	UPI0000042226	SNV	TTC19,missense_variant,p.Lys293Met,ENST00000486880,;TTC19,missense_variant,p.Lys172Met,ENST00000261647,;ZSWIM7,upstream_gene_variant,,ENST00000486655,;ZSWIM7,upstream_gene_variant,,ENST00000399277,;ZSWIM7,upstream_gene_variant,,ENST00000472495,;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;ZSWIM7,upstream_gene_variant,,ENST00000497719,;ZSWIM7,upstream_gene_variant,,ENST00000495825,;ZSWIM7,upstream_gene_variant,,ENST00000399280,;TTC19,3_prime_UTR_variant,,ENST00000466729,;TTC19,3_prime_UTR_variant,,ENST00000475723,;ZSWIM7,upstream_gene_variant,,ENST00000491631,;ZSWIM7,upstream_gene_variant,,ENST00000585208,;ZSWIM7,upstream_gene_variant,,ENST00000579955,;ZSWIM7,upstream_gene_variant,,ENST00000476496,;ZSWIM7,upstream_gene_variant,,ENST00000486706,;TTC19,downstream_gene_variant,,ENST00000470399,;ZSWIM7,upstream_gene_variant,,ENST00000460252,;ZSWIM7,upstream_gene_variant,,ENST00000490395,;ZSWIM7,upstream_gene_variant,,ENST00000474716,;ZSWIM7,upstream_gene_variant,,ENST00000460315,;ZSWIM7,upstream_gene_variant,,ENST00000584519,;TTC19,downstream_gene_variant,,ENST00000583704,;	984	245	277	SUCCESS
CCDC144A	9720	.	GRCh37	17	16638585	16638585	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	42	0	ENST00000360524.8:c.3000G>C	p.Leu1000Phe	p.L1000F	ENST00000360524	NM_014695.1	1000	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS45621.1	3000	RADIA|VARSCANS	.	ATTTTGGAACG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF0,Pfam_domain:PF14915	.	.	ENSP00000439262	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.905)	.	tolerated(0.06)	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,missense_variant,p.Leu1000Phe,ENST00000443444,;CCDC144A,missense_variant,p.Leu1000Phe,ENST00000360524,;CCDC144A,missense_variant,p.Leu720Phe,ENST00000456009,;CCDC144A,missense_variant,p.Leu1000Phe,ENST00000399273,;RP11-219A15.1,missense_variant,p.Leu1000Phe,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;	3140	42	45	SUCCESS
MPRIP	23164	.	GRCh37	17	17075128	17075128	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	49	249	0	ENST00000341712.4:c.2260C>T	p.Arg754Ter	p.R754*	ENST00000341712		754	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS42268.1	2260	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCGAGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF9	.	.	ENSP00000379156	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000395811	Transcript	.	.	ENSG00000133030	30321	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MPRIP_HUMAN	MPRIP	HGNC	Q96EE5_HUMAN,Q8N236_HUMAN,Q5ZEZ6_HUMAN,J3KSK7_HUMAN	.	UPI0000200A77	SNV	MPRIP,stop_gained,p.Arg754Ter,ENST00000395811,;MPRIP,stop_gained,p.Arg1510Ter,ENST00000313485,;MPRIP,stop_gained,p.Arg820Ter,ENST00000414263,;MPRIP,stop_gained,p.Arg754Ter,ENST00000341712,;MPRIP,stop_gained,p.Arg716Ter,ENST00000444976,;MPRIP,stop_gained,p.Arg33Ter,ENST00000429184,;MPRIP,stop_gained,p.Arg754Ter,ENST00000395804,;MPRIP,stop_gained,p.Arg560Ter,ENST00000584067,;MPRIP,intron_variant,,ENST00000579832,;MPRIP,upstream_gene_variant,,ENST00000578209,;RNU6-767P,downstream_gene_variant,,ENST00000384132,;RP11-45M22.3,intron_variant,,ENST00000584203,;MPRIP,non_coding_transcript_exon_variant,,ENST00000578548,;MPRIP,upstream_gene_variant,,ENST00000581855,;	2349	249	266	SUCCESS
AKAP10	11216	.	GRCh37	17	19844215	19844215	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	310	31	277	0	ENST00000225737.6:c.1170C>T	p.Leu390=	p.L390=	ENST00000225737	NM_007202.3	390	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11214.1	1170	MUTECT|MUSE|VARSCANS	.	TAAAAGAGGGC	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR13155,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000225737	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000225737	Transcript	.	.	ENSG00000108599	368	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKA10_HUMAN	AKAP10	HGNC	.	.	UPI000006E08E	SNV	AKAP10,synonymous_variant,p.%3D,ENST00000225737,;AKAP10,synonymous_variant,p.%3D,ENST00000395536,;AKAP10,3_prime_UTR_variant,,ENST00000582611,;AKAP10,intron_variant,,ENST00000460046,;	1328	277	342	SUCCESS
VTN	7448	.	GRCh37	17	26697248	26697248	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs782380759	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	56	0	ENST00000226218.4:c.-24A>T		p.*8*	ENST00000226218	NM_000638.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11229.1	.	MUTECT|MUSE	.	GTGCCTGGCAA	NONE	.	.	.	.	.	ENSP00000226218	.	1/8	.	.	.	.	.	.	.	.	rs782380759	1/8	PASS	ENST00000226218	Transcript	.	.	ENSG00000109072	12724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VTNC_HUMAN	VTN	HGNC	F5GX75_HUMAN,D9ZGG2_HUMAN	.	UPI0000138E65	SNV	VTN,5_prime_UTR_variant,,ENST00000542029,;VTN,5_prime_UTR_variant,,ENST00000536498,;VTN,5_prime_UTR_variant,,ENST00000226218,;TMEM199,intron_variant,,ENST00000509083,;SARM1,upstream_gene_variant,,ENST00000457710,;VTN,upstream_gene_variant,,ENST00000438614,;CTB-96E2.2,upstream_gene_variant,,ENST00000555059,;VTN,upstream_gene_variant,,ENST00000431468,;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;VTN,upstream_gene_variant,,ENST00000539746,;	596	56	61	SUCCESS
EFCAB5	374786	.	GRCh37	17	28296107	28296107	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	29	204	0	ENST00000394835.3:c.489T>A	p.Thr163=	p.T163=	ENST00000394835	NM_198529.3	163	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS11254.2	489	RADIA|MUTECT|MUSE|VARSCANS	.	AATACTGACAG	NONE	.	.	hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF3	.	.	ENSP00000378312	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000394835	Transcript	.	.	ENSG00000176927	24801	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EFCB5_HUMAN	EFCAB5	HGNC	C9J1E6_HUMAN	.	UPI0000E59EF5	SNV	EFCAB5,synonymous_variant,p.%3D,ENST00000320856,;EFCAB5,synonymous_variant,p.%3D,ENST00000536908,;EFCAB5,synonymous_variant,p.%3D,ENST00000378738,;EFCAB5,synonymous_variant,p.%3D,ENST00000394832,;EFCAB5,synonymous_variant,p.%3D,ENST00000394835,;EFCAB5,intron_variant,,ENST00000541045,;EFCAB5,upstream_gene_variant,,ENST00000419434,;EFCAB5,upstream_gene_variant,,ENST00000588978,;EFCAB5,downstream_gene_variant,,ENST00000448319,;EFCAB5,intron_variant,,ENST00000534836,;EFCAB5,downstream_gene_variant,,ENST00000421238,;EFCAB5,synonymous_variant,p.%3D,ENST00000440741,;EFCAB5,intron_variant,,ENST00000423598,;RP11-338L22.3,upstream_gene_variant,,ENST00000581995,;	681	204	238	SUCCESS
TMEM132E	124842	.	GRCh37	17	32907997	32907997	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	72	0	ENST00000321639.5:c.-99C>T		p.*33*	ENST00000321639	NM_207313.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11283.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCGCCAC	NONE	.	.	.	.	.	ENSP00000316532	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,5_prime_UTR_variant,,ENST00000321639,;C17orf102,upstream_gene_variant,,ENST00000357754,;	230	72	89	SUCCESS
TRPV1	7442	.	GRCh37	17	3475495	3475495	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	6	60	0	ENST00000399756.4:c.2152del	p.Arg718GlyfsTer31	p.R718Gfs*31	ENST00000399756	NM_080706.3	718	Agg/gg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS45576.1	2152	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTCCTCATGC	NONE	.	.	hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870	.	.	ENSP00000459962	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000572705	Transcript	.	.	ENSG00000262304	1492	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SHPK	Uniprot_gn	Q8IZY9_HUMAN	.	UPI00005B2E0C	deletion	SHPK,frameshift_variant,p.Arg718GlyfsTer31,ENST00000572705,;TRPV1,frameshift_variant,p.Arg718GlyfsTer31,ENST00000571088,;TRPV1,frameshift_variant,p.Arg729GlyfsTer31,ENST00000425167,;TRPV1,frameshift_variant,p.Arg658GlyfsTer31,ENST00000310522,;TRPV1,frameshift_variant,p.Arg708GlyfsTer31,ENST00000576351,;TRPV1,frameshift_variant,p.Arg718GlyfsTer31,ENST00000399759,;TRPV1,frameshift_variant,p.Arg718GlyfsTer31,ENST00000399756,;TRPV1,frameshift_variant,p.Arg716GlyfsTer31,ENST00000174621,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;TRPV1,downstream_gene_variant,,ENST00000570742,;	2427	60	69	SUCCESS
LHX1	3975	.	GRCh37	17	35297689	35297689	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	86	0	ENST00000254457.5:c.273C>T	p.Cys91=	p.C91=	ENST00000254457	NM_005568.3	91	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS11316.1	273	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCATGAT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000254457	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000254457	Transcript	.	.	ENSG00000132130	6593	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LHX1_HUMAN	LHX1	HGNC	Q58F18_HUMAN	.	UPI000013CE37	SNV	LHX1,synonymous_variant,p.%3D,ENST00000254457,;RP11-445F12.2,intron_variant,,ENST00000607336,;RP11-445F12.1,upstream_gene_variant,,ENST00000532387,;RP11-445F12.1,upstream_gene_variant,,ENST00000525111,;RP11-445F12.1,upstream_gene_variant,,ENST00000529264,;RP11-445F12.1,upstream_gene_variant,,ENST00000528383,;LHX1,upstream_gene_variant,,ENST00000589584,;LHX1,downstream_gene_variant,,ENST00000559335,;LHX1,non_coding_transcript_exon_variant,,ENST00000557970,;LHX1,non_coding_transcript_exon_variant,,ENST00000559572,;	1684	86	101	SUCCESS
ACACA	31	.	GRCh37	17	35614734	35614734	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	83	0	ENST00000353139.5:c.1717A>G	p.Asn573Asp	p.N573D	ENST00000353139	NM_198834.1	573	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS42302.1	1717	RADIA|MUTECT|MUSE|VARSCANS	.	AACATTCTTAT	NONE	.	.	PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246	.	.	ENSP00000344789	.	14/56	.	.	.	.	.	.	.	.	.	14/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0.05)	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,missense_variant,p.Asn478Asp,ENST00000360679,;ACACA,missense_variant,p.Asn573Asp,ENST00000353139,;ACACA,missense_variant,p.Asn536Asp,ENST00000394406,;ACACA,missense_variant,p.Asn458Asp,ENST00000335166,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	2199	83	73	SUCCESS
C17orf96	0	.	GRCh37	17	36829800	36829800	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	28	0	ENST00000325814.5:c.949A>G	p.Asn317Asp	p.N317D	ENST00000325814	NM_001130677.1	317	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS45661.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTTGAGGA	NONE	.	.	Pfam_domain:PF15223,hmmpanther:PTHR23187:SF1,hmmpanther:PTHR23187	.	.	ENSP00000317905	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325814	Transcript	.	.	ENSG00000179294	34493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CQ096_HUMAN	C17orf96	HGNC	.	.	UPI0000198ACE	SNV	C17orf96,missense_variant,p.Asn317Asp,ENST00000325814,;	1388	28	36	SUCCESS
KRTAP17-1	83902	.	GRCh37	17	39471826	39471826	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1168833563	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	75	0	ENST00000334202.3:c.77C>T	p.Pro26Leu	p.P26L	ENST00000334202	NM_031964.1	26	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11387.1	77	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGGCTGA	NONE	.	.	.	.	.	ENSP00000333993	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334202	Transcript	.	.	ENSG00000186860	18917	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	KR171_HUMAN	KRTAP17-1	HGNC	.	.	UPI000006D50E	SNV	KRTAP17-1,missense_variant,p.Pro26Leu,ENST00000334202,;	122	75	78	SUCCESS
ACLY	47	.	GRCh37	17	40063809	40063810	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	73	0	ENST00000352035.2:c.632dup	p.Val212SerfsTer5	p.V212Sfs*5	ENST00000352035	NM_001096.2	211	gga/ggGa	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS11412.1	632-633	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGACTCCATC	NONE	.	.	Superfamily_domains:SSF56059,PIRSF_domain:PIRSF036511,Gene3D:3.30.470.20,hmmpanther:PTHR23118	.	.	ENSP00000253792	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000352035	Transcript	.	.	ENSG00000131473	115	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACLY_HUMAN	ACLY	HGNC	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN	.	UPI000013CDF3	insertion	ACLY,frameshift_variant,p.Val212SerfsTer5,ENST00000590151,;ACLY,frameshift_variant,p.Val212SerfsTer5,ENST00000353196,;ACLY,frameshift_variant,p.Val212SerfsTer5,ENST00000352035,;ACLY,frameshift_variant,p.Val212SerfsTer5,ENST00000393896,;ACLY,intron_variant,,ENST00000537919,;ACLY,intron_variant,,ENST00000590770,;ACLY,downstream_gene_variant,,ENST00000592970,;ACLY,non_coding_transcript_exon_variant,,ENST00000590735,;ACLY,upstream_gene_variant,,ENST00000588547,;	763-764	73	125	SUCCESS
SGCA	6442	.	GRCh37	17	48245087	48245087	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	89	0	ENST00000262018.3:c.302A>T	p.Gln101Leu	p.Q101L	ENST00000262018	NM_000023.2	101	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS32679.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAGGTCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00736,Pfam_domain:PF05510,Gene3D:2.60.40.10,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132	.	.	ENSP00000262018	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000262018	Transcript	.	.	ENSG00000108823	10805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.1)	.	SGCA_HUMAN	SGCA	HGNC	.	.	UPI0000135907	SNV	SGCA,missense_variant,p.Gln101Leu,ENST00000543315,;SGCA,missense_variant,p.Gln101Leu,ENST00000344627,;SGCA,missense_variant,p.Gln101Leu,ENST00000262018,;SGCA,intron_variant,,ENST00000451235,;SGCA,intron_variant,,ENST00000511303,;SGCA,upstream_gene_variant,,ENST00000504073,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,intron_variant,,ENST00000513942,;SGCA,upstream_gene_variant,,ENST00000508382,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,missense_variant,p.Gln101Leu,ENST00000513821,;SGCA,synonymous_variant,p.%3D,ENST00000512526,;SGCA,intron_variant,,ENST00000502555,;SGCA,intron_variant,,ENST00000514934,;HILS1,downstream_gene_variant,,ENST00000545329,;HILS1,downstream_gene_variant,,ENST00000340499,;	338	89	85	SUCCESS
MBTD1	54799	.	GRCh37	17	49302381	49302381	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	68	0	ENST00000415868.1:c.142A>G	p.Lys48Glu	p.K48E	ENST00000415868		48	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS11581.2	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTTACCAT	NONE	.	.	PROSITE_profiles:PS51024,hmmpanther:PTHR12247	.	.	ENSP00000468304	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000586178	Transcript	.	.	ENSG00000011258	19866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	tolerated(0.06)	.	MBTD1_HUMAN	MBTD1	HGNC	.	.	UPI00015DE7E3	SNV	MBTD1,missense_variant,p.Lys48Glu,ENST00000376381,;MBTD1,missense_variant,p.Lys48Glu,ENST00000415868,;MBTD1,missense_variant,p.Lys48Glu,ENST00000586178,;MBTD1,downstream_gene_variant,,ENST00000593259,;MBTD1,missense_variant,p.Lys48Glu,ENST00000405860,;MBTD1,non_coding_transcript_exon_variant,,ENST00000591270,;	486	68	84	SUCCESS
KIF2B	84643	.	GRCh37	17	51900390	51900390	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	19	91	0	ENST00000268919.4:c.-5T>C		p.*2*	ENST00000268919	NM_032559.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32685.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTCACCA	NONE	.	.	.	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,5_prime_UTR_variant,,ENST00000268919,;	152	91	114	SUCCESS
DGKE	8526	.	GRCh37	17	54939189	54939189	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	81	0	ENST00000284061.3:c.1322T>A	p.Leu441Ter	p.L441*	ENST00000284061	NM_003647.2	441	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS11590.1	1322	MUTECT|MUSE|VARSCANS	.	CAGCTTGGAAG	NONE	.	.	Superfamily_domains:SSF111331,SMART_domains:SM00045,Pfam_domain:PF00609,hmmpanther:PTHR11255:SF39,hmmpanther:PTHR11255	.	.	ENSP00000284061	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000284061	Transcript	.	.	ENSG00000153933	2852	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGKE_HUMAN	DGKE	HGNC	A1L4Q0_HUMAN	.	UPI000012DD1F	SNV	DGKE,stop_gained,p.Leu385Ter,ENST00000572944,;DGKE,stop_gained,p.Leu441Ter,ENST00000284061,;DGKE,upstream_gene_variant,,ENST00000570738,;	1502	81	71	SUCCESS
BZRAP1	0	.	GRCh37	17	56382773	56382773	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	14	147	0	ENST00000343736.4:c.5408G>T	p.Gly1803Val	p.G1803V	ENST00000343736		1803	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11605.1	5408	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCCCCCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50002,hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000345824	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	deleterious(0.01)	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,missense_variant,p.Gly67Val,ENST00000581675,;BZRAP1,missense_variant,p.Gly1803Val,ENST00000343736,;BZRAP1,missense_variant,p.Gly225Val,ENST00000580669,;BZRAP1,missense_variant,p.Gly1803Val,ENST00000355701,;BZRAP1,missense_variant,p.Gly1743Val,ENST00000268893,;BZRAP1,downstream_gene_variant,,ENST00000582679,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000577871,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000578511,;BZRAP1,downstream_gene_variant,,ENST00000578486,;BZRAP1,upstream_gene_variant,,ENST00000581692,;	5572	147	135	SUCCESS
TANC2	26115	.	GRCh37	17	61278235	61278235	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	36	205	0	ENST00000424789.2:c.464C>A	p.Thr155Lys	p.T155K	ENST00000424789	NM_025185.3	155	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS45754.1	464	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACAAATG	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(0.84)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Thr155Lys,ENST00000389520,;TANC2,missense_variant,p.Thr155Lys,ENST00000424789,;TANC2,missense_variant,p.Thr84Lys,ENST00000583356,;AC037445.1,intron_variant,,ENST00000581421,;AC037445.1,upstream_gene_variant,,ENST00000435892,;	468	205	213	SUCCESS
TANC2	26115	.	GRCh37	17	61432424	61432424	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761295874	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	20	145	0	ENST00000424789.2:c.2033T>C	p.Val678Ala	p.V678A	ENST00000424789	NM_025185.3	678	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS45754.1	2033	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTAGTTC	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	12/25	.	.	.	.	.	.	.	.	rs761295874	12/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Val678Ala,ENST00000389520,;TANC2,missense_variant,p.Val678Ala,ENST00000424789,;TANC2,missense_variant,p.Val607Ala,ENST00000583356,;TANC2,non_coding_transcript_exon_variant,,ENST00000583545,;	2037	145	139	SUCCESS
CYB561	1534	.	GRCh37	17	61513081	61513081	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1314390526	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	14	124	0	ENST00000360793.3:c.373G>A	p.Gly125Arg	p.G125R	ENST00000360793	NM_001915.3	125	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS11636.1	373	RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCGCACC	NONE	.	.	PROSITE_profiles:PS50939,hmmpanther:PTHR10106,hmmpanther:PTHR10106:SF6,Gene3D:1.20.950.20,Pfam_domain:PF03188,SMART_domains:SM00665	.	.	ENSP00000376702	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000392976	Transcript	.	.	ENSG00000008283	2571	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CY561_HUMAN	CYB561	HGNC	J3QS47_HUMAN	.	UPI0000126C79	SNV	CYB561,missense_variant,p.Gly179Arg,ENST00000580691,;CYB561,missense_variant,p.Gly125Arg,ENST00000581573,;CYB561,missense_variant,p.Gly125Arg,ENST00000360793,;CYB561,missense_variant,p.Gly125Arg,ENST00000448884,;CYB561,missense_variant,p.Gly125Arg,ENST00000584291,;CYB561,missense_variant,p.Gly125Arg,ENST00000392975,;CYB561,missense_variant,p.Gly125Arg,ENST00000392976,;CYB561,missense_variant,p.Gly125Arg,ENST00000582297,;CYB561,missense_variant,p.Gly132Arg,ENST00000582997,;CYB561,missense_variant,p.Gly96Arg,ENST00000582034,;CYB561,missense_variant,p.Gly192Arg,ENST00000542042,;CYB561,synonymous_variant,p.%3D,ENST00000584031,;CYB561,synonymous_variant,p.%3D,ENST00000578072,;CYB561,downstream_gene_variant,,ENST00000580592,;CYB561,upstream_gene_variant,,ENST00000585153,;RP11-269G24.4,upstream_gene_variant,,ENST00000584608,;RP11-269G24.3,upstream_gene_variant,,ENST00000583552,;CYB561,non_coding_transcript_exon_variant,,ENST00000577989,;CYB561,non_coding_transcript_exon_variant,,ENST00000581163,;CYB561,non_coding_transcript_exon_variant,,ENST00000578016,;CYB561,non_coding_transcript_exon_variant,,ENST00000577368,;CYB561,downstream_gene_variant,,ENST00000583478,;CYB561,upstream_gene_variant,,ENST00000582143,;	673	124	120	SUCCESS
CEP95	90799	.	GRCh37	17	62533182	62533182	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	295	103	364	0	ENST00000556440.2:c.2241A>G	p.Ile747Met	p.I747M	ENST00000556440	NM_138363.1	747	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS45763.1	2241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATATCACA	NONE	.	.	hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545	.	.	ENSP00000450461	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000556440	Transcript	.	.	ENSG00000258890	25141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	deleterious(0.01)	.	CEP95_HUMAN	CEP95	HGNC	K7ENV0_HUMAN,B4DMD2_HUMAN	.	UPI000006F4B3	SNV	CEP95,missense_variant,p.Ile747Met,ENST00000556440,;CEP95,missense_variant,p.Ile57Met,ENST00000583676,;CEP95,missense_variant,p.Ile583Met,ENST00000553412,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000580285,;CEP95,non_coding_transcript_exon_variant,,ENST00000581885,;CEP95,non_coding_transcript_exon_variant,,ENST00000581980,;CEP95,downstream_gene_variant,,ENST00000584857,;CEP95,downstream_gene_variant,,ENST00000579637,;CEP95,downstream_gene_variant,,ENST00000582698,;	2751	364	398	SUCCESS
FAM57A	0	.	GRCh37	17	644672	644672	+	synonymous_variant	Silent	SNP	C	C	G	rs773624725	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	73	0	ENST00000308278.8:c.636C>G	p.Leu212=	p.L212=	ENST00000308278	NM_024792.1	212	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS10996.1	636	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCAAGT	NONE	byFrequency	.	PROSITE_profiles:PS50922,hmmpanther:PTHR13439:SF3,hmmpanther:PTHR13439,Pfam_domain:PF03798,SMART_domains:SM00724	.	.	ENSP00000312017	.	5/5	.	.	.	.	.	.	.	.	rs773624725	5/5	PASS	ENST00000308278	Transcript	.	.	ENSG00000167695	29646	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA57A_HUMAN	FAM57A	HGNC	.	.	UPI000006F9B9	SNV	FAM57A,synonymous_variant,p.%3D,ENST00000301324,;FAM57A,synonymous_variant,p.%3D,ENST00000308278,;FAM57A,3_prime_UTR_variant,,ENST00000577008,;FAM57A,downstream_gene_variant,,ENST00000572018,;GEMIN4,downstream_gene_variant,,ENST00000576778,;GEMIN4,downstream_gene_variant,,ENST00000319004,;FAM57A,upstream_gene_variant,,ENST00000570892,;FAM57A,3_prime_UTR_variant,,ENST00000570699,;FAM57A,downstream_gene_variant,,ENST00000574327,;	872	73	74	SUCCESS
PRKAR1A	5573	.	GRCh37	17	66521090	66521090	+	synonymous_variant	Silent	SNP	A	A	C	rs764279365	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	59	0	ENST00000358598.2:c.540A>C	p.Gly180=	p.G180=	ENST00000358598	NM_212471.2	180	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11678.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGAGAGAC	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF129,PROSITE_patterns:PS00888,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000548,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000464977	.	6/11	.	.	.	.	.	.	.	.	rs764279365	6/11	PASS	ENST00000589228	Transcript	.	.	ENSG00000108946	9388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAP0_HUMAN	PRKAR1A	HGNC	Q96P62_HUMAN,K7EQK3_HUMAN,K7EPR5_HUMAN,K7EPB2_HUMAN,K7ENR3_HUMAN,K7EMU2_HUMAN,K7EK41_HUMAN,K7EJ40_HUMAN,K7EIE5_HUMAN,K7EID3_HUMAN,B2R5T5_HUMAN	.	UPI0000001C57	SNV	PRKAR1A,synonymous_variant,p.%3D,ENST00000358598,;PRKAR1A,synonymous_variant,p.%3D,ENST00000588178,;PRKAR1A,synonymous_variant,p.%3D,ENST00000585981,;PRKAR1A,synonymous_variant,p.%3D,ENST00000589228,;PRKAR1A,synonymous_variant,p.%3D,ENST00000589017,;PRKAR1A,synonymous_variant,p.%3D,ENST00000392711,;PRKAR1A,synonymous_variant,p.%3D,ENST00000536854,;PRKAR1A,synonymous_variant,p.%3D,ENST00000588188,;PRKAR1A,synonymous_variant,p.%3D,ENST00000586397,;PRKAR1A,downstream_gene_variant,,ENST00000589480,;PRKAR1A,downstream_gene_variant,,ENST00000588702,;PRKAR1A,downstream_gene_variant,,ENST00000585815,;PRKAR1A,downstream_gene_variant,,ENST00000585427,;PRKAR1A,upstream_gene_variant,,ENST00000592800,;RP11-120M18.2,non_coding_transcript_exon_variant,,ENST00000590353,;PRKAR1A,3_prime_UTR_variant,,ENST00000392710,;PRKAR1A,3_prime_UTR_variant,,ENST00000585608,;PRKAR1A,upstream_gene_variant,,ENST00000586541,;PRKAR1A,upstream_gene_variant,,ENST00000585907,;PRKAR1A,downstream_gene_variant,,ENST00000585460,;	668	59	87	SUCCESS
CD300LF	146722	.	GRCh37	17	72694567	72694567	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	12	82	0	ENST00000326165.6:c.500T>A	p.Leu167Gln	p.L167Q	ENST00000326165	NM_139018.3	167	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11704.1	500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGCAAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF43,Pfam_domain:PF15330	.	.	ENSP00000327075	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000326165	Transcript	.	.	ENSG00000186074	29883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CLM1_HUMAN	CD300LF	HGNC	.	.	UPI000013E729	SNV	CD300LF,missense_variant,p.Leu185Gln,ENST00000581500,;CD300LF,missense_variant,p.Leu167Gln,ENST00000326165,;CD300LF,missense_variant,p.Leu182Gln,ENST00000583937,;CD300LF,missense_variant,p.Leu185Gln,ENST00000361254,;CD300LF,missense_variant,p.Leu170Gln,ENST00000464910,;CD300LF,synonymous_variant,p.%3D,ENST00000301573,;CD300LF,intron_variant,,ENST00000343125,;RAB37,intron_variant,,ENST00000340415,;RAB37,intron_variant,,ENST00000402449,;CD300LF,intron_variant,,ENST00000469092,;RAB37,intron_variant,,ENST00000392617,;CD300LF,intron_variant,,ENST00000462044,;	612	82	83	SUCCESS
UBALD2	283991	.	GRCh37	17	74266433	74266433	+	synonymous_variant	Silent	SNP	C	C	T	rs1414847626	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	55	0	ENST00000327490.6:c.342C>T	p.Ala114=	p.A114=	ENST00000327490	NM_182565.3	114	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11742.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCTCGTC	NONE	.	.	hmmpanther:PTHR31993,hmmpanther:PTHR31993:SF3	.	.	ENSP00000331298	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000327490	Transcript	.	.	ENSG00000185262	28438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBAD2_HUMAN	UBALD2	HGNC	K7ERK7_HUMAN,K7EMI7_HUMAN	.	UPI0000039EA3	SNV	UBALD2,synonymous_variant,p.%3D,ENST00000587913,;UBALD2,synonymous_variant,p.%3D,ENST00000327490,;UBALD2,synonymous_variant,p.%3D,ENST00000589240,;QRICH2,downstream_gene_variant,,ENST00000447564,;QRICH2,downstream_gene_variant,,ENST00000262765,;QRICH2,downstream_gene_variant,,ENST00000532549,;QRICH2,downstream_gene_variant,,ENST00000524722,;	646	55	83	SUCCESS
TMC6	11322	.	GRCh37	17	76121042	76121042	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	93	0	ENST00000322914.3:c.561del	p.Lys188SerfsTer40	p.K188Sfs*40	ENST00000322914	NM_007267.6	187	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32748.1	561	INDELOCATOR|VARSCANI	.	CCACTTCCCCCT	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	.	.	ENSP00000465261	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	deletion	TMC6,frameshift_variant,p.Lys188SerfsTer40,ENST00000322914,;TMC6,frameshift_variant,p.Lys188SerfsTer40,ENST00000306591,;TMC6,frameshift_variant,p.Lys188SerfsTer40,ENST00000392467,;TMC6,frameshift_variant,p.Lys188SerfsTer40,ENST00000590602,;TMC6,frameshift_variant,p.Lys188SerfsTer40,ENST00000589271,;TMC6,5_prime_UTR_variant,,ENST00000322933,;TMC6,intron_variant,,ENST00000589553,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,downstream_gene_variant,,ENST00000592594,;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,upstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000586126,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,upstream_gene_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000588792,;	721	93	88	SUCCESS
CYTH1	9267	.	GRCh37	17	76778291	76778291	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	40	0	ENST00000361101.4:c.15C>G	p.Asp5Glu	p.D5E	ENST00000361101	NM_017456.2	5	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS42392.2	15	MUTECT|MUSE|VARSCANS	.	TAGCTGTCGTC	NONE	.	.	hmmpanther:PTHR10663:SF113,hmmpanther:PTHR10663	.	.	ENSP00000354398	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000361101	Transcript	.	.	ENSG00000108669	9501	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	CYH1_HUMAN	CYTH1	HGNC	K7ENH6_HUMAN,K7EKA2_HUMAN,B7Z1T4_HUMAN	.	UPI000000009A	SNV	CYTH1,missense_variant,p.Asp5Glu,ENST00000361101,;CYTH1,missense_variant,p.Asp5Glu,ENST00000589296,;CYTH1,missense_variant,p.Asp5Glu,ENST00000446868,;CYTH1,missense_variant,p.Asp5Glu,ENST00000591455,;CYTH1,missense_variant,p.Asp5Glu,ENST00000591574,;CYTH1,non_coding_transcript_exon_variant,,ENST00000592497,;	86	40	55	SUCCESS
LSMD1	0	.	GRCh37	17	7760817	7760817	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	56	0	ENST00000575771.1:c.-192A>T		p.*64*	ENST00000575771				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11122.1	.	MUTECT|MUSE	.	CTTCCTAAGCA	NONE	.	.	.	.	.	ENSP00000332103	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000333775	Transcript	.	.	ENSG00000183011	28212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LSMD1_HUMAN	LSMD1	HGNC	.	.	UPI0000073595	SNV	LSMD1,5_prime_UTR_variant,,ENST00000333775,;LSMD1,5_prime_UTR_variant,,ENST00000575071,;LSMD1,5_prime_UTR_variant,,ENST00000575771,;LSMD1,intron_variant,,ENST00000576861,;LSMD1,intron_variant,,ENST00000575208,;LSMD1,upstream_gene_variant,,ENST00000335155,;KDM6B,downstream_gene_variant,,ENST00000448097,;TMEM88,downstream_gene_variant,,ENST00000301599,;TMEM88,downstream_gene_variant,,ENST00000574668,;CYB5D1,upstream_gene_variant,,ENST00000570446,;CYB5D1,upstream_gene_variant,,ENST00000332439,;LSMD1,upstream_gene_variant,,ENST00000576384,;KDM6B,downstream_gene_variant,,ENST00000254846,;CYB5D1,upstream_gene_variant,,ENST00000571846,;LSMD1,downstream_gene_variant,,ENST00000570555,;CYB5D1,upstream_gene_variant,,ENST00000574357,;CYB5D1,upstream_gene_variant,,ENST00000574196,;CYB5D1,upstream_gene_variant,,ENST00000573940,;	356	56	69	SUCCESS
AATK	9625	.	GRCh37	17	79095855	79095855	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	54	0	ENST00000326724.4:c.1881A>T	p.Ala627=	p.A627=	ENST00000326724	NM_001080395.2	627	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45807.1	1881	MUTECT|MUSE|VARSCANS	.	CAGTCTGCATC	NONE	.	.	hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417	.	.	ENSP00000324196	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,synonymous_variant,p.%3D,ENST00000326724,;AATK,synonymous_variant,p.%3D,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000321300,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR338,upstream_gene_variant,,ENST00000390137,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,synonymous_variant,p.%3D,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;AATK,downstream_gene_variant,,ENST00000576053,;	1906	54	65	SUCCESS
SLC38A10	124565	.	GRCh37	17	79268727	79268727	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	17	125	0	ENST00000374759.3:c.-6C>T		p.*2*	ENST00000374759	NM_001037984.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42397.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAGAGGTC	NONE	.	.	.	.	.	ENSP00000363891	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000374759	Transcript	.	.	ENSG00000157637	28237	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S38AA_HUMAN	SLC38A10	HGNC	F5H3T4_HUMAN	.	UPI000066DA6A	SNV	SLC38A10,5_prime_UTR_variant,,ENST00000374759,;SLC38A10,5_prime_UTR_variant,,ENST00000288439,;SLC38A10,intron_variant,,ENST00000539748,;SLC38A10,upstream_gene_variant,,ENST00000540233,;	379	125	150	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79423558	79423558	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781853812	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	43	216	0	ENST00000307745.7:c.4805G>A	p.Arg1602Gln	p.R1602Q	ENST00000307745		1602	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	4805	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGGAGA	NONE	byFrequency	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	20/32	.	.	.	.	.	.	.	.	rs781853812	20/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.477)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Arg1514Gln,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Arg1602Gln,ENST00000307745,;RP11-1055B8.8,downstream_gene_variant,,ENST00000572590,;RP11-1055B8.7,non_coding_transcript_exon_variant,,ENST00000576071,;RP11-1055B8.7,upstream_gene_variant,,ENST00000576039,;	4805	216	257	SUCCESS
ALOX15B	247	.	GRCh37	17	7946179	7946179	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750713821	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	96	0	ENST00000380183.4:c.653A>T	p.Asn218Ile	p.N218I	ENST00000380183	NM_001141.2	218	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS11128.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAACTTCC	NONE	byFrequency	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Pfam_domain:PF00305,Superfamily_domains:SSF48484,Prints_domain:PR00467	.	.	ENSP00000369530	.	5/14	.	.	.	.	.	.	.	.	rs750713821	5/14	PASS	ENST00000380183	Transcript	.	.	ENSG00000179593	434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.44)	.	LX15B_HUMAN	ALOX15B	HGNC	.	.	UPI0000140991	SNV	ALOX15B,missense_variant,p.Asn218Ile,ENST00000380183,;ALOX15B,missense_variant,p.Asn218Ile,ENST00000573359,;ALOX15B,missense_variant,p.Asn218Ile,ENST00000572022,;ALOX15B,missense_variant,p.Asn218Ile,ENST00000380173,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	792	96	99	SUCCESS
NTN1	9423	.	GRCh37	17	8926031	8926031	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777691583	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	100	0	ENST00000173229.2:c.341C>T	p.Pro114Leu	p.P114L	ENST00000173229	NM_004822.2	114	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11148.1	341	RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCGCACA	NONE	.	.	PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF219,Pfam_domain:PF00055,Gene3D:2.60.120.260,SMART_domains:SM00136,Superfamily_domains:SSF49785	.	.	ENSP00000173229	.	2/7	.	.	.	.	.	.	.	.	rs777691583	2/7	PASS	ENST00000173229	Transcript	.	.	ENSG00000065320	8029	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.636)	.	deleterious(0.04)	.	NET1_HUMAN	NTN1	HGNC	.	.	UPI000013C5C7	SNV	NTN1,missense_variant,p.Pro114Leu,ENST00000546090,;NTN1,missense_variant,p.Pro114Leu,ENST00000538852,;NTN1,missense_variant,p.Pro114Leu,ENST00000173229,;	448	100	105	SUCCESS
USP43	124739	.	GRCh37	17	9604502	9604502	+	synonymous_variant	Silent	SNP	G	G	A	rs764359781	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	21	113	0	ENST00000285199.7:c.1602G>A	p.Ala534=	p.A534=	ENST00000285199	NM_001267576.1	534	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45610.1	1602	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGCATCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF408,hmmpanther:PTHR24006,Pfam_domain:PF00443	.	.	ENSP00000285199	.	11/15	.	.	.	.	.	.	.	.	rs764359781	11/15	PASS	ENST00000285199	Transcript	.	.	ENSG00000154914	20072	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBP43_HUMAN	USP43	HGNC	.	.	UPI0000047AFB	SNV	USP43,missense_variant,p.Arg24His,ENST00000573955,;USP43,synonymous_variant,p.%3D,ENST00000574408,;USP43,synonymous_variant,p.%3D,ENST00000570475,;USP43,synonymous_variant,p.%3D,ENST00000285199,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,;	1698	113	160	SUCCESS
LDLRAD4	753	.	GRCh37	18	13612584	13612585	+	intron_variant	Intron	INS	-	-	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	34	0	ENST00000359446.5:c.182-8531dup		p.*61*	ENST00000359446	NM_181481.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32793.1	.	INDELOCATOR*|PINDEL	.	ACCCCATGCCA	NONE	.	.	.	.	.	ENSP00000354753	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361205	Transcript	.	.	ENSG00000168675	1224	1	.	MODIFIER	4/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRAD4_HUMAN	LDLRAD4	HGNC	K7EMG1_HUMAN,K7EKD6_HUMAN,K7EJM9_HUMAN	.	UPI0000126BCF	insertion	LDLRAD4,5_prime_UTR_variant,,ENST00000587757,;LDLRAD4,intron_variant,,ENST00000361205,;LDLRAD4,intron_variant,,ENST00000359446,;LDLRAD4,intron_variant,,ENST00000399848,;LDLRAD4,intron_variant,,ENST00000587905,;LDLRAD4,intron_variant,,ENST00000593236,;LDLRAD4,intron_variant,,ENST00000585931,;LDLRAD4,upstream_gene_variant,,ENST00000586765,;MIR4526,downstream_gene_variant,,ENST00000583168,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000590308,;LDLRAD4,intron_variant,,ENST00000586207,;LDLRAD4,upstream_gene_variant,,ENST00000592812,;	.	34	27	SUCCESS
DSG4	147409	.	GRCh37	18	28979346	28979346	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	143	0	ENST00000308128.4:c.1117A>T	p.Arg373Ter	p.R373*	ENST00000308128	NM_177986.3	373	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS45845.1	1117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGAGAATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000352785	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000359747	Transcript	.	.	ENSG00000175065	21307	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSG4_HUMAN	DSG4	HGNC	.	.	UPI000035DB4E	SNV	DSG4,stop_gained,p.Arg373Ter,ENST00000308128,;DSG4,stop_gained,p.Arg373Ter,ENST00000359747,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;	1146	143	102	SUCCESS
MYO5B	4645	.	GRCh37	18	47432876	47432876	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs183277668	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	157	0	ENST00000285039.7:c.2327G>A	p.Arg776Gln	p.R776Q	ENST00000285039	NM_001080467.2	776	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS42436.1	2327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCCGGACA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,Pfam_domain:PF00612,SMART_domains:SM00015,Superfamily_domains:SSF52540	T:0.001	.	ENSP00000285039	T:0	19/40	.	.	.	.	.	.	.	.	rs183277668,COSM1216415	19/40	PASS	ENST00000285039	Transcript	.	T:0.0004	ENSG00000167306	7603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	T:0.001	deleterious(0)	0,1	MYO5B_HUMAN	MYO5B	HGNC	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN	.	UPI00001D7B21	SNV	MYO5B,missense_variant,p.Arg776Gln,ENST00000285039,;MYO5B,upstream_gene_variant,,ENST00000324581,;MYO5B,upstream_gene_variant,,ENST00000592779,;	2627	157	97	SUCCESS
LAMA1	284217	.	GRCh37	18	7013922	7013922	+	synonymous_variant	Silent	SNP	G	G	A	rs375804587	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	147	0	ENST00000389658.3:c.3255C>T	p.Pro1085=	p.P1085=	ENST00000389658	NM_005559.3	1085	ccC/ccT	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS32787.1	3255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGGGAAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	A:0.0001	ENSP00000374309	.	23/63	.	.	.	.	.	.	.	.	rs375804587,COSM80092	23/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	3349	147	100	SUCCESS
CYB5A	1528	.	GRCh37	18	71959117	71959117	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	35	0	ENST00000340533.4:c.-7A>G		p.*3*	ENST00000340533	NM_148923.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12004.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTTCGCCG	NONE	.	.	.	.	.	ENSP00000341625	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000340533	Transcript	.	.	ENSG00000166347	2570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYB5_HUMAN	CYB5A	HGNC	Q9UML1_HUMAN,J3KNC7_HUMAN	.	UPI0000000DF0	SNV	CYB5A,5_prime_UTR_variant,,ENST00000494131,;CYB5A,5_prime_UTR_variant,,ENST00000340533,;CYB5A,5_prime_UTR_variant,,ENST00000397914,;CYB5A,upstream_gene_variant,,ENST00000299438,;CYB5A,non_coding_transcript_exon_variant,,ENST00000583418,;	135	35	27	SUCCESS
GRIN3B	116444	.	GRCh37	19	1003596	1003596	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	8	90	0	ENST00000234389.3:c.894A>T	p.Gln298His	p.Q298H	ENST00000234389	NM_138690.1	298	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS32861.1	894	MUTECT|MUSE	.	GTGCAACTGGT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000234389	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000234389	Transcript	.	.	ENSG00000116032	16768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.401)	.	deleterious(0)	.	NMD3B_HUMAN	GRIN3B	HGNC	.	.	UPI000004064B	SNV	GRIN3B,missense_variant,p.Gln298His,ENST00000234389,;AC004528.1,downstream_gene_variant,,ENST00000594393,;AC004528.4,upstream_gene_variant,,ENST00000588380,;GRIN3B,upstream_gene_variant,,ENST00000588335,;	913	90	105	SUCCESS
ZNF491	126069	.	GRCh37	19	11917800	11917800	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	89	0	ENST00000323169.5:c.1032A>T	p.Ile344=	p.I344=	ENST00000323169	NM_152356.3	344	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12267.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAATACATGG	BUFFER|p.R343*|c.1027C>T|4,BUFFER|p.R343Q|c.1028G>A|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF35,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000313443	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000323169	Transcript	.	.	ENSG00000177599	23706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN491_HUMAN	ZNF491	HGNC	C9IYV0_HUMAN	.	UPI000006D12C	SNV	ZNF491,synonymous_variant,p.%3D,ENST00000323169,;ZNF491,downstream_gene_variant,,ENST00000450087,;ZNF491,intron_variant,,ENST00000492230,;	1363	89	84	SUCCESS
ZNF709	163051	.	GRCh37	19	12575440	12575440	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	91	0	ENST00000397732.3:c.1296C>A	p.Ser432=	p.S432=	ENST00000397732	NM_152601.3	432	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	.	1296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGGAACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000404127	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000428311	Transcript	.	.	ENSG00000196826	20629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF709	Uniprot_gn	.	.	UPI000006CF50	SNV	ZNF709,synonymous_variant,p.%3D,ENST00000428311,;ZNF709,synonymous_variant,p.%3D,ENST00000397732,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	1438	91	96	SUCCESS
TNPO2	30000	.	GRCh37	19	12822277	12822277	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	67	0	ENST00000425528.1:c.952-2A>G		p.X318_splice	ENST00000425528		318		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45991.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTGGGGG	NONE	.	.	.	.	.	ENSP00000407182	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425528	Transcript	.	.	ENSG00000105576	19998	.	.	HIGH	11/25	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNPO2_HUMAN	TNPO2	HGNC	K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN	.	UPI000013F0EA	SNV	TNPO2,splice_acceptor_variant,,ENST00000356861,;TNPO2,splice_acceptor_variant,,ENST00000592287,;TNPO2,splice_acceptor_variant,,ENST00000441499,;TNPO2,splice_acceptor_variant,,ENST00000425528,;TNPO2,splice_acceptor_variant,,ENST00000450764,;TNPO2,splice_acceptor_variant,,ENST00000588216,;SNORD41,upstream_gene_variant,,ENST00000386967,;TNPO2,intron_variant,,ENST00000589956,;TNPO2,splice_acceptor_variant,,ENST00000585886,;TNPO2,splice_acceptor_variant,,ENST00000588151,;TNPO2,downstream_gene_variant,,ENST00000586775,;TNPO2,upstream_gene_variant,,ENST00000588491,;TNPO2,downstream_gene_variant,,ENST00000588484,;TNPO2,downstream_gene_variant,,ENST00000587654,;	.	67	76	SUCCESS
CCDC130	81576	.	GRCh37	19	13873731	13873731	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	55	149	0	ENST00000221554.8:c.1040G>A	p.Ser347Asn	p.S347N	ENST00000221554	NM_030818.2	347	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS12296.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGCAGCC	NONE	.	.	hmmpanther:PTHR12111:SF2,hmmpanther:PTHR12111,Pfam_domain:PF04502	.	.	ENSP00000465776	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000586600	Transcript	.	.	ENSG00000104957	28118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.2)	.	CC130_HUMAN	CCDC130	HGNC	K7EPA5_HUMAN,K7ELI4_HUMAN	.	UPI0000071AFB	SNV	CCDC130,missense_variant,p.Ser347Asn,ENST00000221554,;CCDC130,missense_variant,p.Ser17Asn,ENST00000589669,;CCDC130,missense_variant,p.Ser347Asn,ENST00000586600,;CCDC130,3_prime_UTR_variant,,ENST00000585844,;MRI1,upstream_gene_variant,,ENST00000040663,;CCDC130,downstream_gene_variant,,ENST00000589096,;MRI1,upstream_gene_variant,,ENST00000319545,;CCDC130,downstream_gene_variant,,ENST00000588809,;MRI1,upstream_gene_variant,,ENST00000593245,;CCDC130,downstream_gene_variant,,ENST00000586666,;CCDC130,non_coding_transcript_exon_variant,,ENST00000587019,;CCDC130,non_coding_transcript_exon_variant,,ENST00000593174,;MRI1,upstream_gene_variant,,ENST00000588526,;MRI1,upstream_gene_variant,,ENST00000589290,;CCDC130,downstream_gene_variant,,ENST00000588071,;MRI1,upstream_gene_variant,,ENST00000591688,;CCDC130,downstream_gene_variant,,ENST00000540216,;	1543	149	144	SUCCESS
CASP14	23581	.	GRCh37	19	15163033	15163033	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	109	0	ENST00000427043.3:c.-30T>A		p.*10*	ENST00000427043	NM_012114.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12323.1	.	MUTECT|MUSE|VARSCANS	.	GGTGCTGAGAG	NONE	.	.	.	.	.	ENSP00000393417	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000427043	Transcript	.	.	ENSG00000105141	1502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASPE_HUMAN	CASP14	HGNC	B2CIS9_HUMAN	.	UPI0000044176	SNV	CASP14,5_prime_UTR_variant,,ENST00000427043,;CASP14,5_prime_UTR_variant,,ENST00000221740,;AC004699.1,upstream_gene_variant,,ENST00000411269,;CASP14,upstream_gene_variant,,ENST00000598738,;	279	109	99	SUCCESS
PGLYRP2	114770	.	GRCh37	19	15586592	15586592	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	65	0	ENST00000340880.4:c.889A>T	p.Ser297Cys	p.S297C	ENST00000340880	NM_052890.3	297	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS12330.2	889	MUTECT|MUSE	.	GTGGCTGAGGG	NONE	.	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF13	.	.	ENSP00000345968	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000340880	Transcript	.	.	ENSG00000161031	30013	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.886)	.	deleterious(0)	.	PGRP2_HUMAN	PGLYRP2	HGNC	M0R2W8_HUMAN,M0QYW3_HUMAN	.	UPI000004EEA6	SNV	PGLYRP2,missense_variant,p.Ser297Cys,ENST00000340880,;PGLYRP2,missense_variant,p.Ser297Cys,ENST00000292609,;PGLYRP2,downstream_gene_variant,,ENST00000594637,;PGLYRP2,downstream_gene_variant,,ENST00000601792,;	1370	65	42	SUCCESS
KLF16	83855	.	GRCh37	19	1854493	1854493	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	48	0	ENST00000250916.4:c.724A>T	p.Ser242Cys	p.S242C	ENST00000250916	NM_031918.3	242	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS12075.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223:SF133,hmmpanther:PTHR23223	.	.	ENSP00000250916	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000250916	Transcript	.	.	ENSG00000129911	16857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	KLF16_HUMAN	KLF16	HGNC	.	.	UPI0000126B0D	SNV	KLF16,missense_variant,p.Ser242Cys,ENST00000250916,;CTB-31O20.6,downstream_gene_variant,,ENST00000592884,;KLF16,non_coding_transcript_exon_variant,,ENST00000592313,;KLF16,missense_variant,p.Ser242Cys,ENST00000541015,;	795	48	63	SUCCESS
UPF1	5976	.	GRCh37	19	18961531	18961531	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	98	0	ENST00000262803.5:c.664A>T	p.Ile222Phe	p.I222F	ENST00000262803	NM_002911.3	222	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS12386.1	664	MUTECT|MUSE	.	AGGACATCAAC	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF340,Pfam_domain:PF09416	.	.	ENSP00000262803	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000262803	Transcript	.	.	ENSG00000005007	9962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	deleterious(0.03)	.	RENT1_HUMAN	UPF1	HGNC	B3KY55_HUMAN	.	UPI0000001C89	SNV	UPF1,missense_variant,p.Ile222Phe,ENST00000599848,;UPF1,missense_variant,p.Ile222Phe,ENST00000262803,;UPF1,non_coding_transcript_exon_variant,,ENST00000598209,;UPF1,non_coding_transcript_exon_variant,,ENST00000600310,;UPF1,non_coding_transcript_exon_variant,,ENST00000600868,;UPF1,non_coding_transcript_exon_variant,,ENST00000594504,;UPF1,non_coding_transcript_exon_variant,,ENST00000600012,;UPF1,non_coding_transcript_exon_variant,,ENST00000598471,;UPF1,downstream_gene_variant,,ENST00000601981,;UPF1,upstream_gene_variant,,ENST00000594243,;UPF1,upstream_gene_variant,,ENST00000601689,;	936	98	96	SUCCESS
CREB3L3	84699	.	GRCh37	19	4171378	4171378	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	69	0	ENST00000078445.2:c.976-2A>G		p.X326_splice	ENST00000078445	NM_032607.2	326		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12121.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAGGTCC	NONE	.	.	.	.	.	ENSP00000078445	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000078445	Transcript	1	.	ENSG00000060566	18855	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR3L3_HUMAN	CREB3L3	HGNC	.	.	UPI000006FCF0	SNV	CREB3L3,splice_acceptor_variant,,ENST00000602147,;CREB3L3,splice_acceptor_variant,,ENST00000252587,;CREB3L3,splice_acceptor_variant,,ENST00000078445,;CREB3L3,splice_acceptor_variant,,ENST00000602257,;CREB3L3,splice_acceptor_variant,,ENST00000595923,;SIRT6,downstream_gene_variant,,ENST00000601488,;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000381935,;SIRT6,downstream_gene_variant,,ENST00000337491,;SIRT6,downstream_gene_variant,,ENST00000594279,;SIRT6,downstream_gene_variant,,ENST00000305232,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,splice_acceptor_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599365,;SIRT6,downstream_gene_variant,,ENST00000600938,;SIRT6,downstream_gene_variant,,ENST00000599394,;SIRT6,downstream_gene_variant,,ENST00000601069,;	.	69	63	SUCCESS
CCDC94	0	.	GRCh37	19	4258386	4258386	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	11	165	0	ENST00000262962.7:c.553A>T	p.Arg185Trp	p.R185W	ENST00000262962	NM_018074.4	185	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12124.1	553	MUTECT|MUSE	.	GGCGGAGGCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12111,hmmpanther:PTHR12111:SF1,Pfam_domain:PF04502	.	.	ENSP00000262962	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000262962	Transcript	.	.	ENSG00000105248	25518	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	CCD94_HUMAN	CCDC94	HGNC	Q7LE05_HUMAN,M0R2S3_HUMAN	.	UPI000006CF6B	SNV	CCDC94,missense_variant,p.Arg150Trp,ENST00000596496,;CCDC94,missense_variant,p.Arg185Trp,ENST00000262962,;	621	165	159	SUCCESS
ETHE1	23474	.	GRCh37	19	44012166	44012166	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	57	0	ENST00000292147.2:c.642G>A	p.Arg214=	p.R214=	ENST00000292147	NM_014297.3	214	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12622.1	642	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCCGAGG	NONE	.	.	Superfamily_domains:SSF56281,Gene3D:3.60.15.10,hmmpanther:PTHR11935,hmmpanther:PTHR11935:SF8	.	.	ENSP00000292147	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000292147	Transcript	1	.	ENSG00000105755	23287	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ETHE1_HUMAN	ETHE1	HGNC	B2RCZ7_HUMAN	.	UPI0000073C7C	SNV	ETHE1,synonymous_variant,p.%3D,ENST00000292147,;ETHE1,synonymous_variant,p.%3D,ENST00000600651,;PHLDB3,upstream_gene_variant,,ENST00000601646,;PHLDB3,upstream_gene_variant,,ENST00000599242,;PHLDB3,upstream_gene_variant,,ENST00000292140,;PHLDB3,upstream_gene_variant,,ENST00000594808,;ETHE1,3_prime_UTR_variant,,ENST00000594342,;ETHE1,3_prime_UTR_variant,,ENST00000598330,;PHLDB3,upstream_gene_variant,,ENST00000596902,;ETHE1,downstream_gene_variant,,ENST00000602138,;	709	57	68	SUCCESS
ZNF221	7638	.	GRCh37	19	44469460	44469460	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	16	177	0	ENST00000587682.1:c.284A>T	p.Gln95Leu	p.Q95L	ENST00000587682		95	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12633.1	284	MUTECT|MUSE|VARSCANS	.	AAGCCAAAGAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24388:SF3,hmmpanther:PTHR24388	.	.	ENSP00000251269	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000251269	Transcript	.	.	ENSG00000159905	13014	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.013)	.	tolerated(0.06)	.	ZN221_HUMAN	ZNF221	HGNC	Q16646_HUMAN,K7EIT6_HUMAN	.	UPI000013CCF3	SNV	ZNF221,missense_variant,p.Gln95Leu,ENST00000592350,;ZNF221,missense_variant,p.Gln95Leu,ENST00000587682,;ZNF221,missense_variant,p.Gln95Leu,ENST00000251269,;ZNF221,missense_variant,p.Gln95Leu,ENST00000591168,;ZNF155,upstream_gene_variant,,ENST00000590411,;	612	177	163	SUCCESS
CCDC114	0	.	GRCh37	19	48806026	48806026	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	57	0	ENST00000315396.7:c.1054A>T	p.Lys352Ter	p.K352*	ENST00000315396	NM_144577.3	352	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS12714.2	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTGTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694:SF18,hmmpanther:PTHR21694	.	.	ENSP00000318429	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000315396	Transcript	1	.	ENSG00000105479	26560	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC114_HUMAN	CCDC114	HGNC	.	.	UPI0000EE7B5F	SNV	CCDC114,stop_gained,p.Lys352Ter,ENST00000315396,;CCDC114,downstream_gene_variant,,ENST00000504608,;CCDC114,non_coding_transcript_exon_variant,,ENST00000497273,;CCDC114,non_coding_transcript_exon_variant,,ENST00000474199,;	1737	57	60	SUCCESS
PIH1D1	55011	.	GRCh37	19	49954058	49954058	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	62	0	ENST00000262265.5:c.138A>T	p.Thr46=	p.T46=	ENST00000262265	NM_017916.2	46	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12765.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTGTCGA	NONE	.	.	hmmpanther:PTHR22997,Pfam_domain:PF08190	.	.	ENSP00000262265	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000262265	Transcript	.	.	ENSG00000104872	26075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIHD1_HUMAN	PIH1D1	HGNC	M0R0J2_HUMAN	.	UPI000006F844	SNV	PIH1D1,synonymous_variant,p.%3D,ENST00000601807,;PIH1D1,synonymous_variant,p.%3D,ENST00000596049,;PIH1D1,synonymous_variant,p.%3D,ENST00000597415,;PIH1D1,synonymous_variant,p.%3D,ENST00000601825,;PIH1D1,synonymous_variant,p.%3D,ENST00000262265,;PIH1D1,synonymous_variant,p.%3D,ENST00000599366,;ALDH16A1,upstream_gene_variant,,ENST00000293350,;PIH1D1,downstream_gene_variant,,ENST00000595550,;PIH1D1,upstream_gene_variant,,ENST00000600875,;ALDH16A1,upstream_gene_variant,,ENST00000540132,;ALDH16A1,upstream_gene_variant,,ENST00000455361,;ALDH16A1,upstream_gene_variant,,ENST00000433981,;ALDH16A1,upstream_gene_variant,,ENST00000598015,;PIH1D1,upstream_gene_variant,,ENST00000602226,;PIH1D1,synonymous_variant,p.%3D,ENST00000601053,;PIH1D1,synonymous_variant,p.%3D,ENST00000596916,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000595516,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000595074,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000593900,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000599791,;PIH1D1,upstream_gene_variant,,ENST00000593629,;PIH1D1,upstream_gene_variant,,ENST00000598175,;ALDH16A1,upstream_gene_variant,,ENST00000593417,;PIH1D1,upstream_gene_variant,,ENST00000598889,;PIH1D1,upstream_gene_variant,,ENST00000602076,;PIH1D1,upstream_gene_variant,,ENST00000596651,;PIH1D1,upstream_gene_variant,,ENST00000596895,;PIH1D1,upstream_gene_variant,,ENST00000595633,;ALDH16A1,upstream_gene_variant,,ENST00000599652,;PIH1D1,upstream_gene_variant,,ENST00000594845,;PIH1D1,upstream_gene_variant,,ENST00000597577,;	374	62	71	SUCCESS
MYH14	79784	.	GRCh37	19	50752386	50752386	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	12	119	0	ENST00000376970.2:c.1448A>T	p.Glu483Val	p.E483V	ENST00000376970	NM_024729.3	483	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54295.1	1472	MUTECT|MUSE|VARSCANS	.	CTTTGAGATCT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000470298	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Glu491Val,ENST00000440075,;MYH14,missense_variant,p.Glu491Val,ENST00000601313,;MYH14,missense_variant,p.Glu483Val,ENST00000376970,;MYH14,missense_variant,p.Glu483Val,ENST00000596571,;MYH14,missense_variant,p.Glu491Val,ENST00000425460,;MYH14,missense_variant,p.Glu491Val,ENST00000599920,;MYH14,missense_variant,p.Glu491Val,ENST00000598205,;MYH14,missense_variant,p.Glu491Val,ENST00000262269,;	1502	119	133	SUCCESS
EMC10	284361	.	GRCh37	19	50984225	50984225	+	synonymous_variant	Silent	SNP	C	C	T	rs766834639	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	24	134	0	ENST00000334976.6:c.669C>T	p.Phe223=	p.F223=	ENST00000334976	NM_206538.2	223	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS12796.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCGCCAA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21397:SF3,hmmpanther:PTHR21397	.	.	ENSP00000334037	.	6/7	.	.	.	.	.	.	.	.	rs766834639	6/7	PASS	ENST00000334976	Transcript	.	.	ENSG00000161671	27609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC10_HUMAN	EMC10	HGNC	.	.	UPI0000036D2B	SNV	EMC10,synonymous_variant,p.%3D,ENST00000598585,;EMC10,synonymous_variant,p.%3D,ENST00000376918,;EMC10,synonymous_variant,p.%3D,ENST00000334976,;FAM71E1,upstream_gene_variant,,ENST00000595790,;EMC10,downstream_gene_variant,,ENST00000597799,;FAM71E1,upstream_gene_variant,,ENST00000600100,;EMC10,downstream_gene_variant,,ENST00000597426,;CTD-2545M3.2,intron_variant,,ENST00000598194,;EMC10,3_prime_UTR_variant,,ENST00000599293,;EMC10,3_prime_UTR_variant,,ENST00000601780,;FAM71E1,upstream_gene_variant,,ENST00000599206,;FAM71E1,upstream_gene_variant,,ENST00000600330,;EMC10,upstream_gene_variant,,ENST00000594508,;FAM71E1,upstream_gene_variant,,ENST00000602178,;	715	134	138	SUCCESS
SHANK1	50944	.	GRCh37	19	51201148	51201148	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	53	0	ENST00000293441.1:c.1813T>A	p.Ser605Thr	p.S605T	ENST00000293441	NM_016148.2	605	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS12799.1	1813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGAGGGGA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000293441	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,missense_variant,p.Ser605Thr,ENST00000391814,;SHANK1,missense_variant,p.Ser605Thr,ENST00000359082,;SHANK1,missense_variant,p.Ser605Thr,ENST00000293441,;	1832	53	36	SUCCESS
ZNF320	162967	.	GRCh37	19	53384338	53384338	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs753436135	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	74	0	ENST00000391781.2:c.1041T>A	p.His347Gln	p.H347Q	ENST00000391781		347	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS33095.1	1041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATGTCT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000473091	.	8/8	.	.	.	.	.	.	.	.	rs753436135	8/8	PASS	ENST00000595635	Transcript	.	.	ENSG00000182986	13842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN320_HUMAN	ZNF320	HGNC	Q6ZP55_HUMAN,M0R2L4_HUMAN,M0R1K6_HUMAN,M0R0Z8_HUMAN,M0QZA2_HUMAN	.	UPI00004EC06C	SNV	ZNF320,missense_variant,p.His347Gln,ENST00000595635,;ZNF320,missense_variant,p.His347Gln,ENST00000391781,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,downstream_gene_variant,,ENST00000594741,;ZNF320,downstream_gene_variant,,ENST00000597265,;ZNF320,downstream_gene_variant,,ENST00000597091,;ZNF320,downstream_gene_variant,,ENST00000593618,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;	1543	74	78	SUCCESS
CDC34	997	.	GRCh37	19	541500	541500	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773664509	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	88	0	ENST00000215574.4:c.659C>T	p.Ala220Val	p.A220V	ENST00000215574	NM_004359.1	220	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12030.1	659	MUTECT|MUSE|VARSCANS	.	GGAGGCCGACA	NONE	byFrequency	.	hmmpanther:PTHR24067:SF98,hmmpanther:PTHR24067,Gene3D:3.10.110.10	.	.	ENSP00000215574	.	5/5	.	.	.	.	.	.	.	.	rs773664509	5/5	PASS	ENST00000215574	Transcript	.	.	ENSG00000099804	1734	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.079)	.	deleterious(0.05)	.	UB2R1_HUMAN	CDC34	HGNC	.	.	UPI000013795A	SNV	CDC34,missense_variant,p.Ala120Val,ENST00000586283,;CDC34,missense_variant,p.Ala88Val,ENST00000607527,;CDC34,missense_variant,p.Ala220Val,ENST00000215574,;CDC34,3_prime_UTR_variant,,ENST00000606065,;CDC34,3_prime_UTR_variant,,ENST00000606136,;CDC34,3_prime_UTR_variant,,ENST00000593036,;GZMM,upstream_gene_variant,,ENST00000264553,;GZMM,upstream_gene_variant,,ENST00000592501,;CDC34,downstream_gene_variant,,ENST00000607629,;CDC34,intron_variant,,ENST00000606400,;CDC34,downstream_gene_variant,,ENST00000586788,;	877	88	96	SUCCESS
VSTM1	284415	.	GRCh37	19	54545063	54545063	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	80	0	ENST00000338372.2:c.561T>C	p.Asp187=	p.D187=	ENST00000338372	NM_198481.3	187	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS12872.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAATCTGC	NONE	.	.	.	.	.	ENSP00000343366	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000338372	Transcript	.	.	ENSG00000189068	29455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSTM1_HUMAN	VSTM1	HGNC	.	.	UPI00001D8195	SNV	VSTM1,synonymous_variant,p.%3D,ENST00000338372,;VSTM1,synonymous_variant,p.%3D,ENST00000419106,;VSTM1,synonymous_variant,p.%3D,ENST00000366170,;VSTM1,synonymous_variant,p.%3D,ENST00000376626,;VSTM1,3_prime_UTR_variant,,ENST00000425006,;VSTM1,3_prime_UTR_variant,,ENST00000447872,;	737	80	54	SUCCESS
FIZ1	84922	.	GRCh37	19	56109118	56109118	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	16	176	0	ENST00000221665.3:c.114G>C	p.Leu38=	p.L38=	ENST00000221665	NM_032836.2	38	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS12928.1	114	MUTECT|MUSE|VARSCANS	.	CGCCGCAGGTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF11,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221665	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000221665	Transcript	.	.	ENSG00000179943	25917	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FIZ1_HUMAN	FIZ1	HGNC	K7EQX6_HUMAN,K7EJE2_HUMAN	.	UPI000013C7D7	SNV	FIZ1,synonymous_variant,p.%3D,ENST00000592585,;FIZ1,synonymous_variant,p.%3D,ENST00000221665,;FIZ1,synonymous_variant,p.%3D,ENST00000587678,;FIZ1,synonymous_variant,p.%3D,ENST00000590714,;FIZ1,synonymous_variant,p.%3D,ENST00000587414,;ZNF524,upstream_gene_variant,,ENST00000591046,;ZNF524,upstream_gene_variant,,ENST00000589521,;ZNF524,upstream_gene_variant,,ENST00000301073,;	204	176	178	SUCCESS
ZNF582	147948	.	GRCh37	19	56896349	56896349	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	70	0	ENST00000301310.4:c.437A>T	p.His146Leu	p.H146L	ENST00000301310	NM_144690.1	146	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS33121.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATGTCTG	NONE	.	.	hmmpanther:PTHR24381:SF115,hmmpanther:PTHR24381	.	.	ENSP00000301310	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301310	Transcript	.	.	ENSG00000018869	26421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.42)	.	ZN582_HUMAN	ZNF582	HGNC	B4DQZ9_HUMAN	.	UPI000006D278	SNV	ZNF582,missense_variant,p.His146Leu,ENST00000586929,;ZNF582,missense_variant,p.His146Leu,ENST00000301310,;ZNF582,intron_variant,,ENST00000589143,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF582,missense_variant,p.His146Leu,ENST00000593145,;ZNF582,missense_variant,p.His146Leu,ENST00000587778,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;	596	70	67	SUCCESS
ZNF8	7554	.	GRCh37	19	58806178	58806178	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	76	0	ENST00000608843.1:c.1004A>T	p.His335Leu	p.H335L	ENST00000608843	NM_021089.2	335	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS12974.1	1004	MUTECT|MUSE	.	GATTCACACTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF186,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000476449	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000608843	Transcript	.	.	ENSG00000273439	13154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	ZNF8	HGNC	B4DSF4_HUMAN	.	UPI0000185FEA	SNV	ZNF8,missense_variant,p.His335Leu,ENST00000608843,;ZNF8,missense_variant,p.His335Leu,ENST00000196548,;AC010642.1,3_prime_UTR_variant,,ENST00000591325,;	1134	76	87	SUCCESS
TNFSF14	8740	.	GRCh37	19	6670072	6670072	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	45	0	ENST00000599359.1:c.9G>C	p.Glu3Asp	p.E3D	ENST00000599359		3	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS12171.1	9	MUTECT|MUSE	.	ACACTCTCCTC	NONE	.	.	hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF22	.	.	ENSP00000469049	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000599359	Transcript	.	.	ENSG00000125735	11930	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.64)	.	TNF14_HUMAN	TNFSF14	HGNC	.	.	UPI000013CBC2	SNV	TNFSF14,missense_variant,p.Glu3Asp,ENST00000599359,;TNFSF14,missense_variant,p.Glu3Asp,ENST00000245912,;TNFSF14,missense_variant,p.Glu3Asp,ENST00000326176,;	391	45	54	SUCCESS
MUC16	94025	.	GRCh37	19	8966763	8966763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	13	92	0	ENST00000397910.4:c.43190C>T	p.Pro14397Leu	p.P14397L	ENST00000397910	NM_024690.2	14397	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54212.1	43190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGGCGAG	BUFFER|p.R14400W|c.43198C>T|3	.	.	Superfamily_domains:0047452,SMART_domains:SM00200,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	81/84	.	.	.	.	.	.	.	.	.	81/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Pro1038Leu,ENST00000380951,;MUC16,missense_variant,p.Pro14397Leu,ENST00000397910,;MUC16,missense_variant,p.Pro1220Leu,ENST00000599436,;MUC16,missense_variant,p.His1220Tyr,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	43394	92	94	SUCCESS
RSBN1	54665	.	GRCh37	1	114354782	114354782	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs372385428	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	67	0	ENST00000261441.5:c.253G>C	p.Val85Leu	p.V85L	ENST00000261441	NM_018364.3	85	Gtt/Ctt	0	T:0	.	.	.	.	G	V/L	protein_coding	YES	CCDS862.1	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAACTCCCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13354,hmmpanther:PTHR13354:SF8	.	T:0.0001	ENSP00000261441	.	1/7	.	.	.	.	.	.	.	.	rs372385428	1/7	PASS	ENST00000261441	Transcript	.	.	ENSG00000081019	25642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	tolerated_low_confidence(0.08)	.	RSBN1_HUMAN	RSBN1	HGNC	.	.	UPI00002263B4	SNV	RSBN1,missense_variant,p.Val85Leu,ENST00000261441,;PTPN22,downstream_gene_variant,,ENST00000528414,;PTPN22,downstream_gene_variant,,ENST00000359785,;PTPN22,downstream_gene_variant,,ENST00000460620,;PTPN22,downstream_gene_variant,,ENST00000538253,;RP5-1073O3.2,upstream_gene_variant,,ENST00000418238,;RP5-1073O3.2,upstream_gene_variant,,ENST00000429398,;RSBN1,missense_variant,p.Val46Leu,ENST00000476412,;PTPN22,downstream_gene_variant,,ENST00000469077,;PTPN22,downstream_gene_variant,,ENST00000532224,;	317	67	57	SUCCESS
CLCN6	1185	.	GRCh37	1	11897423	11897423	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	76	0	ENST00000346436.6:c.2162A>G	p.Tyr721Cys	p.Y721C	ENST00000346436	NM_001286.3	721	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS138.1	2162	RADIA|MUTECT|MUSE|VARSCANS	.	CCTATACCCTG	NONE	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69	.	.	ENSP00000234488	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000346436	Transcript	.	.	ENSG00000011021	2024	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.619)	.	tolerated(0.11)	.	CLCN6_HUMAN	CLCN6	HGNC	.	.	UPI000013F2D3	SNV	CLCN6,missense_variant,p.Tyr699Cys,ENST00000376487,;CLCN6,missense_variant,p.Tyr721Cys,ENST00000346436,;CLCN6,missense_variant,p.Tyr721Cys,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;NPPA-AS1,upstream_gene_variant,,ENST00000446542,;CLCN6,downstream_gene_variant,,ENST00000494028,;	2214	76	81	SUCCESS
TNFRSF1B	7133	.	GRCh37	1	12251908	12251908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	29	204	0	ENST00000376259.3:c.385A>G	p.Ser129Gly	p.S129G	ENST00000376259	NM_001066.2	129	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS145.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGAGCAAG	NONE	.	.	PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF108,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586	.	.	ENSP00000365435	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000376259	Transcript	.	.	ENSG00000028137	11917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.48)	.	TNR1B_HUMAN	TNFRSF1B	HGNC	Q9UIH2_HUMAN,Q9UIG9_HUMAN,Q6LBF2_HUMAN	.	UPI000002FAE1	SNV	TNFRSF1B,missense_variant,p.Ser129Gly,ENST00000536782,;TNFRSF1B,missense_variant,p.Ser129Gly,ENST00000376259,;MIR4632,downstream_gene_variant,,ENST00000584158,;TNFRSF1B,non_coding_transcript_exon_variant,,ENST00000492361,;TNFRSF1B,non_coding_transcript_exon_variant,,ENST00000489921,;	474	204	162	SUCCESS
FLG	2312	.	GRCh37	1	152280279	152280279	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	10	78	0	ENST00000368799.1:c.7083A>G	p.Arg2361=	p.R2361=	ENST00000368799	NM_002016.1	2361	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS30860.1	7083	MUTECT|MUSE|VARSCANS	.	GACCCTCGGTG	NONE	.	.	Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7119	78	124	SUCCESS
FLG	2312	.	GRCh37	1	152282724	152282724	+	synonymous_variant	Silent	SNP	A	A	G	rs371007229	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	7	79	0	ENST00000368799.1:c.4638T>C	p.Asn1546=	p.N1546=	ENST00000368799	NM_002016.1	1546	aaT/aaC	0	G:0	G:0	.	G:0	.	G	N	protein_coding	YES	CCDS30860.1	4638	MUTECT|MUSE	.	TCCTCATTTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	G:0	G:0.0001	ENSP00000357789	G:0.001	3/3	.	.	.	.	.	.	.	.	rs371007229	3/3	PASS	ENST00000368799	Transcript	.	G:0.0002	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	4674	79	182	SUCCESS
CRNN	49860	.	GRCh37	1	152382558	152382558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	53	140	0	ENST00000271835.3:c.1000G>T	p.Gly334Cys	p.G334C	ENST00000271835	NM_016190.2	334	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS1010.1	1000	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTTGAC	NONE	.	.	hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639	.	.	ENSP00000271835	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000271835	Transcript	.	.	ENSG00000143536	1230	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.598)	.	deleterious(0.01)	.	CRNN_HUMAN	CRNN	HGNC	.	.	UPI000006E106	SNV	CRNN,missense_variant,p.Gly334Cys,ENST00000271835,;RP1-91G5.3,intron_variant,,ENST00000411804,;	1063	140	292	SUCCESS
SPRR2A	6700	.	GRCh37	1	153029021	153029021	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs769459820	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	10	79	0	ENST00000392653.2:c.191A>T	p.Gln64Leu	p.Q64L	ENST00000392653	NM_005988.2	64	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1034.1	191	MUTECT|MUSE	.	TTGACTGGCAG	NONE	byCluster	.	hmmpanther:PTHR23263:SF29,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR01217,Prints_domain:PR00021	.	.	ENSP00000376423	.	2/2	.	.	.	.	.	.	.	.	rs769459820	2/2	PASS	ENST00000392653	Transcript	.	.	ENSG00000241794	11261	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SPR2A_HUMAN	SPRR2A	HGNC	.	.	UPI0000135D6D	SNV	SPRR2A,missense_variant,p.Gln64Leu,ENST00000392653,;	277	79	156	SUCCESS
KCNN3	3782	.	GRCh37	1	154744565	154744565	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	9	100	0	ENST00000271915.4:c.1334T>C	p.Phe445Ser	p.F445S	ENST00000271915	NM_001204087.1	445	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS30880.1	1334	MUTECT|MUSE	.	TGTTGAAGTTG	NONE	.	.	hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000271915	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000271915	Transcript	.	.	ENSG00000143603	6292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	deleterious(0.01)	.	.	KCNN3	HGNC	Q6JXY2_HUMAN	.	UPI000013D915	SNV	KCNN3,missense_variant,p.Phe132Ser,ENST00000358505,;KCNN3,missense_variant,p.Phe445Ser,ENST00000271915,;KCNN3,missense_variant,p.Phe140Ser,ENST00000361147,;	1650	100	212	SUCCESS
IQGAP3	128239	.	GRCh37	1	156496381	156496381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	10	61	0	ENST00000361170.2:c.4793A>T	p.Gln1598Leu	p.Q1598L	ENST00000361170	NM_178229.4	1598	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1144.1	4793	MUTECT|MUSE|VARSCANS	.	GGAGCTGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10,Superfamily_domains:0050767	.	.	ENSP00000354451	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000361170	Transcript	.	.	ENSG00000183856	20669	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	IQGA3_HUMAN	IQGAP3	HGNC	F2Z2E2_HUMAN	.	UPI000046FFDD	SNV	IQGAP3,missense_variant,p.Gln1598Leu,ENST00000361170,;snoU13,upstream_gene_variant,,ENST00000458777,;IQGAP3,missense_variant,p.Gln1555Leu,ENST00000491900,;	4804	61	108	SUCCESS
GPATCH4	54865	.	GRCh37	1	156565217	156565217	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	11	104	0	ENST00000438976.2:c.916G>A	p.Glu306Lys	p.E306K	ENST00000438976		306	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS44245.1	916	MUTECT|MUSE	.	CTTCTCCTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23149:SF8,hmmpanther:PTHR23149	.	.	ENSP00000396441	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000438976	Transcript	.	.	ENSG00000160818	25982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.1)	.	.	GPATCH4	HGNC	E9PAV9_HUMAN	.	UPI00001B55A9	SNV	GPATCH4,missense_variant,p.Glu306Lys,ENST00000438976,;GPATCH4,missense_variant,p.Glu301Lys,ENST00000368232,;APOA1BP,downstream_gene_variant,,ENST00000368235,;APOA1BP,downstream_gene_variant,,ENST00000368234,;APOA1BP,downstream_gene_variant,,ENST00000368233,;GPATCH4,downstream_gene_variant,,ENST00000415314,;GPATCH4,downstream_gene_variant,,ENST00000334588,;APOA1BP,downstream_gene_variant,,ENST00000467374,;GPATCH4,downstream_gene_variant,,ENST00000497287,;APOA1BP,downstream_gene_variant,,ENST00000488840,;GPATCH4,downstream_gene_variant,,ENST00000531129,;GPATCH4,downstream_gene_variant,,ENST00000525375,;GPATCH4,downstream_gene_variant,,ENST00000506832,;GPATCH4,downstream_gene_variant,,ENST00000498756,;GPATCH4,downstream_gene_variant,,ENST00000498641,;GPATCH4,downstream_gene_variant,,ENST00000529520,;GPATCH4,downstream_gene_variant,,ENST00000527691,;GPATCH4,downstream_gene_variant,,ENST00000494414,;GPATCH4,downstream_gene_variant,,ENST00000473910,;GPATCH4,downstream_gene_variant,,ENST00000531900,;GPATCH4,downstream_gene_variant,,ENST00000474904,;GPATCH4,downstream_gene_variant,,ENST00000463513,;	947	104	220	SUCCESS
NES	10763	.	GRCh37	1	156640722	156640722	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	273	20	146	0	ENST00000368223.3:c.3258A>T	p.Ser1086=	p.S1086=	ENST00000368223	NM_006617.1	1086	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS1151.1	3258	MUTECT|MUSE	.	GGCTCTGACCC	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239,Low_complexity_(Seg):seg	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,synonymous_variant,p.%3D,ENST00000368223,;	3391	146	293	SUCCESS
ISG20L2	81875	.	GRCh37	1	156697395	156697395	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	12	35	0	ENST00000313146.6:c.50A>T	p.Lys17Met	p.K17M	ENST00000313146	NM_030980.1	17	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS1153.1	50	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTTTTTG	NONE	.	.	hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF59	.	.	ENSP00000323424	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000313146	Transcript	.	.	ENSG00000143319	25745	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	I20L2_HUMAN	ISG20L2	HGNC	.	.	UPI000006D42B	SNV	ISG20L2,missense_variant,p.Lys17Met,ENST00000368219,;ISG20L2,missense_variant,p.Lys17Met,ENST00000313146,;RRNAD1,upstream_gene_variant,,ENST00000522237,;RRNAD1,upstream_gene_variant,,ENST00000476229,;RRNAD1,upstream_gene_variant,,ENST00000524343,;RRNAD1,upstream_gene_variant,,ENST00000368218,;RRNAD1,upstream_gene_variant,,ENST00000368216,;RRNAD1,upstream_gene_variant,,ENST00000519086,;RRNAD1,upstream_gene_variant,,ENST00000484742,;ISG20L2,non_coding_transcript_exon_variant,,ENST00000469074,;ISG20L2,non_coding_transcript_exon_variant,,ENST00000470713,;ISG20L2,upstream_gene_variant,,ENST00000496538,;ISG20L2,upstream_gene_variant,,ENST00000472824,;RRNAD1,upstream_gene_variant,,ENST00000517871,;	833	35	100	SUCCESS
LRRC71	149499	.	GRCh37	1	156901783	156901783	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1290811030	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	34	111	1	ENST00000337428.7:c.1405C>T	p.Pro469Ser	p.P469S	ENST00000337428	NM_144702.2	469	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44249.1	1405	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGCCTGGG	NONE	.	.	hmmpanther:PTHR24106	.	.	ENSP00000336661	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000337428	Transcript	.	.	ENSG00000160838	26556	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.303)	.	tolerated(0.09)	.	LRC71_HUMAN	LRRC71	HGNC	.	.	UPI00000719B9	SNV	LRRC71,missense_variant,p.Pro469Ser,ENST00000337428,;ARHGEF11,downstream_gene_variant,,ENST00000361409,;ARHGEF11,downstream_gene_variant,,ENST00000315174,;ARHGEF11,downstream_gene_variant,,ENST00000368194,;MIR765,downstream_gene_variant,,ENST00000390226,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;ARHGEF11,downstream_gene_variant,,ENST00000487682,;LRRC71,upstream_gene_variant,,ENST00000472465,;ARHGEF11,downstream_gene_variant,,ENST00000492592,;	1559	112	260	SUCCESS
CDK11B	984	.	GRCh37	1	1571767	1571767	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	34	88	0	ENST00000407249.3:c.2003A>T	p.Glu668Val	p.E668V	ENST00000407249		668	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	.	2003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTCGCTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF107,PROSITE_profiles:PS50011	.	.	ENSP00000464036	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000407249	Transcript	.	.	ENSG00000248333	1729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	CDK11B	HGNC	Q6P5Y5_HUMAN,Q5QPQ9_HUMAN,J3QR44_HUMAN,A4VCI5_HUMAN	.	UPI0000D61E1A	SNV	CDK11B,missense_variant,p.Glu666Val,ENST00000317673,;CDK11B,missense_variant,p.Glu668Val,ENST00000407249,;CDK11B,missense_variant,p.Glu621Val,ENST00000341832,;CDK11B,missense_variant,p.Glu655Val,ENST00000340677,;CDK11B,missense_variant,p.Glu501Val,ENST00000513088,;MMP23B,downstream_gene_variant,,ENST00000378675,;MMP23B,downstream_gene_variant,,ENST00000356026,;MMP23B,downstream_gene_variant,,ENST00000503792,;MMP23B,downstream_gene_variant,,ENST00000435358,;MMP23B,downstream_gene_variant,,ENST00000479814,;MMP23B,downstream_gene_variant,,ENST00000472264,;MMP23B,downstream_gene_variant,,ENST00000489782,;MMP23B,downstream_gene_variant,,ENST00000486400,;MMP23B,downstream_gene_variant,,ENST00000490017,;MMP23B,downstream_gene_variant,,ENST00000512731,;	2003	88	80	SUCCESS
KIRREL	0	.	GRCh37	1	158064686	158064686	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	359	32	217	0	ENST00000359209.6:c.2050T>A	p.Tyr684Asn	p.Y684N	ENST00000359209		684	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS1172.2	2050	MUTECT|MUSE|VARSCANS	.	TGTCCTACGAG	NONE	.	.	hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640	.	.	ENSP00000352138	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.723)	.	deleterious(0.03)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Tyr520Asn,ENST00000360089,;KIRREL,missense_variant,p.Tyr700Asn,ENST00000368173,;KIRREL,missense_variant,p.Tyr498Asn,ENST00000368172,;KIRREL,missense_variant,p.Tyr584Asn,ENST00000416935,;KIRREL,missense_variant,p.Tyr684Asn,ENST00000359209,;KIRREL,missense_variant,p.Tyr581Asn,ENST00000392272,;	2117	217	392	SUCCESS
SPTA1	6708	.	GRCh37	1	158592934	158592934	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs533909383	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	323	35	167	0	ENST00000368147.4:c.5959G>T	p.Glu1987Ter	p.E1987*	ENST00000368147	NM_003126.2	1987	Gag/Tag	0	.	T:0	.	T:0	.	A	E/*	protein_coding	YES	CCDS41423.1	5959	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCGGGAA	BUFFER|p.R1984T|c.5951G>C|3	by1000G	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	T:0	.	ENSP00000357129	T:0	43/52	.	.	.	.	.	.	.	.	rs533909383	43/52	PASS	ENST00000368147	Transcript	.	T:0.0002	ENSG00000163554	11272	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,stop_gained,p.Glu1987Ter,ENST00000368147,;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000484520,;	6140	167	358	SUCCESS
VSIG8	391123	.	GRCh37	1	159825697	159825697	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	25	48	0	ENST00000368100.1:c.947G>C	p.Cys316Ser	p.C316S	ENST00000368100	NM_001013661.1	316	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS30913.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGCAGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF75	.	.	ENSP00000357080	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000368100	Transcript	.	.	ENSG00000243284	32063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.39)	.	VSIG8_HUMAN	VSIG8	HGNC	.	.	UPI0000458A8F	SNV	VSIG8,missense_variant,p.Cys316Ser,ENST00000368100,;C1orf204,upstream_gene_variant,,ENST00000368102,;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;	1083	48	142	SUCCESS
VSIG8	391123	.	GRCh37	1	159825698	159825698	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	25	49	0	ENST00000368100.1:c.946T>A	p.Cys316Ser	p.C316S	ENST00000368100	NM_001013661.1	316	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS30913.1	946	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCAGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF75	.	.	ENSP00000357080	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000368100	Transcript	.	.	ENSG00000243284	32063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.39)	.	VSIG8_HUMAN	VSIG8	HGNC	.	.	UPI0000458A8F	SNV	VSIG8,missense_variant,p.Cys316Ser,ENST00000368100,;C1orf204,upstream_gene_variant,,ENST00000368102,;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;	1082	49	139	SUCCESS
NDUFS2	4720	.	GRCh37	1	161180452	161180452	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	273	19	135	0	ENST00000367993.3:c.938A>T	p.Gln313Leu	p.Q313L	ENST00000367993	NM_004550.4	313	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS1224.1	938	MUTECT|MUSE	.	CGACCAGGTTG	NONE	.	.	HAMAP:MF_01358,hmmpanther:PTHR11993,hmmpanther:PTHR11993:SF10,TIGRFAM_domain:TIGR01962,Pfam_domain:PF00346,Gene3D:1.10.645.10,Superfamily_domains:SSF56762	.	.	ENSP00000356972	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000367993	Transcript	.	.	ENSG00000158864	7708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.4)	.	NDUS2_HUMAN	NDUFS2	HGNC	Q9HC12_HUMAN,Q9HC11_HUMAN,B7Z9L2_HUMAN	.	UPI00001308D2	SNV	NDUFS2,missense_variant,p.Gln313Leu,ENST00000392179,;NDUFS2,missense_variant,p.Gln313Leu,ENST00000367993,;NDUFS2,missense_variant,p.Gln215Leu,ENST00000476409,;FCER1G,upstream_gene_variant,,ENST00000367992,;FCER1G,upstream_gene_variant,,ENST00000289902,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000483804,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000480762,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000467295,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000465923,;NDUFS2,downstream_gene_variant,,ENST00000496133,;NDUFS2,upstream_gene_variant,,ENST00000468828,;NDUFS2,upstream_gene_variant,,ENST00000492153,;FCER1G,upstream_gene_variant,,ENST00000490414,;NDUFS2,downstream_gene_variant,,ENST00000496553,;NDUFS2,upstream_gene_variant,,ENST00000493849,;NDUFS2,downstream_gene_variant,,ENST00000473321,;NDUFS2,downstream_gene_variant,,ENST00000478866,;NDUFS2,downstream_gene_variant,,ENST00000479948,;	1386	135	292	SUCCESS
DUSP27	0	.	GRCh37	1	167096866	167096866	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	293	26	156	0	ENST00000361200.2:c.2498T>A	p.Leu833Gln	p.L833Q	ENST00000361200		833	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS30932.1	2498	MUTECT|MUSE	.	GGACCTAAAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Leu833Gln,ENST00000361200,;DUSP27,missense_variant,p.Leu833Gln,ENST00000443333,;DUSP27,missense_variant,p.Leu833Gln,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	2664	156	320	SUCCESS
SPATA21	374955	.	GRCh37	1	16748442	16748442	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	64	0	ENST00000335496.1:c.59T>A	p.Leu20Gln	p.L20Q	ENST00000335496	NM_198546.1	20	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS172.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCAGGAAG	NONE	.	.	hmmpanther:PTHR10891:SF565,hmmpanther:PTHR10891	.	.	ENSP00000335612	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000335496	Transcript	.	.	ENSG00000187144	28026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	tolerated(0.16)	.	SPT21_HUMAN	SPATA21	HGNC	.	.	UPI00001B4B16	SNV	SPATA21,missense_variant,p.Leu20Gln,ENST00000335496,;SPATA21,intron_variant,,ENST00000540400,;SPATA21,downstream_gene_variant,,ENST00000375577,;SPATA21,non_coding_transcript_exon_variant,,ENST00000466212,;	542	65	65	SUCCESS
VAMP4	8674	.	GRCh37	1	171707601	171707601	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	7	93	0	ENST00000236192.7:c.-47G>T		p.X16_splice	ENST00000236192	NM_003762.4	16		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1298.1	.	MUTECT|MUSE	.	GTCACCACCTT	NONE	.	.	.	.	.	ENSP00000236192	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000236192	Transcript	.	.	ENSG00000117533	12645	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VAMP4_HUMAN	VAMP4	HGNC	Q6IAZ3_HUMAN	.	UPI00000015F3	SNV	VAMP4,splice_region_variant,,ENST00000236192,;VAMP4,splice_region_variant,,ENST00000367740,;VAMP4,splice_region_variant,,ENST00000415773,;VAMP4,splice_region_variant,,ENST00000482519,;VAMP4,splice_region_variant,,ENST00000474047,;	341	93	195	SUCCESS
SUCO	51430	.	GRCh37	1	172558774	172558774	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	283	11	166	0	ENST00000263688.3:c.2533A>T	p.Ile845Leu	p.I845L	ENST00000263688	NM_014283.3	845	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS1303.1	2533	MUTECT|MUSE	.	TGAATATAGCT	NONE	.	.	hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.32)	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,missense_variant,p.Ile997Leu,ENST00000608151,;SUCO,missense_variant,p.Ile996Leu,ENST00000367723,;SUCO,missense_variant,p.Ile845Leu,ENST00000263688,;SUCO,intron_variant,,ENST00000610051,;	2752	167	294	SUCCESS
SUCO	51430	.	GRCh37	1	172577940	172577940	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	536	54	275	0	ENST00000263688.3:c.3319A>T	p.Lys1107Ter	p.K1107*	ENST00000263688	NM_014283.3	1107	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS1303.1	3319	MUTECT|MUSE|VARSCANS	.	AAAAGAAGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,stop_gained,p.Lys736Ter,ENST00000610051,;SUCO,stop_gained,p.Lys1259Ter,ENST00000608151,;SUCO,stop_gained,p.Lys1258Ter,ENST00000367723,;SUCO,stop_gained,p.Lys1107Ter,ENST00000263688,;RNU6-693P,downstream_gene_variant,,ENST00000516134,;SUCO,splice_region_variant,,ENST00000609685,;	3538	275	590	SUCCESS
PRDX6	9588	.	GRCh37	1	173456893	173456893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	10	122	0	ENST00000340385.5:c.566T>C	p.Val189Ala	p.V189A	ENST00000340385	NM_004905.2	189	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1307.1	566	MUTECT|MUSE	.	GATGGTCCTTC	NONE	.	.	hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF77,Gene3D:2v2gD02,Pfam_domain:PF10417,PIRSF_domain:PIRSF000239,Superfamily_domains:SSF52833	.	.	ENSP00000342026	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000340385	Transcript	.	.	ENSG00000117592	16753	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.393)	.	deleterious(0)	.	PRDX6_HUMAN	PRDX6	HGNC	.	.	UPI0000001C4B	SNV	PRDX6,missense_variant,p.Val189Ala,ENST00000340385,;PRDX6,non_coding_transcript_exon_variant,,ENST00000470017,;	698	122	208	SUCCESS
TNR	7143	.	GRCh37	1	175293604	175293604	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	68	118	0	ENST00000263525.2:c.3845A>G	p.Asp1282Gly	p.D1282G	ENST00000263525	NM_003285.2	1282	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1318.1	3845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTCTCTA	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Gene3D:4.10.530.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000356646	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Asp1282Gly,ENST00000367674,;TNR,missense_variant,p.Asp1282Gly,ENST00000263525,;RP3-518E13.2,intron_variant,,ENST00000569593,;	4554	118	280	SUCCESS
TNR	7143	.	GRCh37	1	175334337	175334337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	132	111	0	ENST00000263525.2:c.2396C>G	p.Pro799Arg	p.P799R	ENST00000263525	NM_003285.2	799	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS1318.1	2396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGGAGAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Pro799Arg,ENST00000367674,;TNR,missense_variant,p.Pro799Arg,ENST00000263525,;	3105	111	246	SUCCESS
AXDND1	126859	.	GRCh37	1	179497527	179497527	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	23	60	0	ENST00000367618.3:c.2676T>C	p.His892=	p.H892=	ENST00000367618	NM_144696.5	892	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS30948.1	2676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATTCCAA	NONE	.	.	hmmpanther:PTHR23052	.	.	ENSP00000356590	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000367618	Transcript	.	.	ENSG00000162779	26564	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXDN1_HUMAN	AXDND1	HGNC	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	.	UPI000022AC91	SNV	AXDND1,synonymous_variant,p.%3D,ENST00000434088,;AXDND1,synonymous_variant,p.%3D,ENST00000367618,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484883,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	3063	60	140	SUCCESS
NPHS2	7827	.	GRCh37	1	179544976	179544976	+	synonymous_variant	Silent	SNP	G	G	A	rs202081233	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	29	0	ENST00000367615.4:c.24C>T	p.Ser8=	p.S8=	ENST00000367615	NM_014625.2	8	tcC/tcT	0	.	A:0.0008	.	A:0	.	A	S	protein_coding	YES	CCDS1331.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGAGCT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000356587	A:0	1/8	.	.	.	.	.	.	.	.	rs202081233	1/8	PASS	ENST00000367615	Transcript	.	A:0.0002	ENSG00000116218	13394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PODO_HUMAN	NPHS2	HGNC	.	.	UPI000003F549	SNV	NPHS2,synonymous_variant,p.%3D,ENST00000367616,;NPHS2,synonymous_variant,p.%3D,ENST00000367615,;RNU5F-2P,upstream_gene_variant,,ENST00000516066,;	93	29	63	SUCCESS
CACNA1E	777	.	GRCh37	1	181685267	181685267	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	10	62	0	ENST00000367573.2:c.1315+2T>A		p.X439_splice	ENST00000367573	NM_001205293.1	439		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55664.1	.	MUSE|VARSCANS	.	GTGGGTGAGTG	NONE	.	.	.	.	.	ENSP00000356545	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	HIGH	10/47	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,splice_donor_variant,,ENST00000367567,;CACNA1E,splice_donor_variant,,ENST00000360108,;CACNA1E,splice_donor_variant,,ENST00000358338,;CACNA1E,splice_donor_variant,,ENST00000357570,;CACNA1E,splice_donor_variant,,ENST00000526775,;CACNA1E,splice_donor_variant,,ENST00000367570,;CACNA1E,splice_donor_variant,,ENST00000367573,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	.	62	119	SUCCESS
CACNA1E	777	.	GRCh37	1	181767735	181767735	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781574328	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	12	69	0	ENST00000367573.2:c.6707A>G	p.His2236Arg	p.H2236R	ENST00000367573	NM_001205293.1	2236	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS55664.1	6707	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCACGAAG	NONE	byFrequency	.	.	.	.	ENSP00000356545	.	48/48	.	.	.	.	.	.	.	.	rs781574328	48/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.599)	.	tolerated(1)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.His2125Arg,ENST00000358338,;CACNA1E,missense_variant,p.His1800Arg,ENST00000367567,;CACNA1E,missense_variant,p.His2187Arg,ENST00000357570,;CACNA1E,missense_variant,p.His2217Arg,ENST00000360108,;CACNA1E,missense_variant,p.His2174Arg,ENST00000526775,;CACNA1E,missense_variant,p.His2236Arg,ENST00000367573,;CACNA1E,missense_variant,p.His2193Arg,ENST00000367570,;	6707	69	121	SUCCESS
DHX9	1660	.	GRCh37	1	182811771	182811771	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	217	22	115	0	ENST00000367549.3:c.70A>G	p.Arg24Gly	p.R24G	ENST00000367549	NM_001357.4	24	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS41444.1	70	MUTECT|MUSE|VARSCANS	.	AAATTAGAGCA	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000356520	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Arg24Gly,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000483416,;	180	115	239	SUCCESS
DHX9	1660	.	GRCh37	1	182827944	182827944	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs756800874	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	22	121	0	ENST00000367549.3:c.977A>G	p.Gln326Arg	p.Q326R	ENST00000367549	NM_001357.4	326	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS41444.1	977	MUTECT|MUSE	.	AAACCAAGTGG	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934	.	.	ENSP00000356520	.	10/28	.	.	.	.	.	.	.	.	rs756800874	10/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.58)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Gln326Arg,ENST00000367549,;DHX9,upstream_gene_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000479271,;DHX9,downstream_gene_variant,,ENST00000483416,;	1087	121	282	SUCCESS
HMCN1	83872	.	GRCh37	1	185987388	185987388	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	24	116	0	ENST00000271588.4:c.5374A>G	p.Ile1792Val	p.I1792V	ENST00000271588	NM_031935.2	1792	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS30956.1	5374	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTATTGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	34/107	.	.	.	.	.	.	.	.	.	34/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.222)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ile1792Val,ENST00000367492,;HMCN1,missense_variant,p.Ile1792Val,ENST00000271588,;	5603	116	225	SUCCESS
LMOD1	25802	.	GRCh37	1	201915422	201915422	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	22	103	0	ENST00000367288.4:c.47A>T	p.Asp16Val	p.D16V	ENST00000367288	NM_012134.2	16	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS53457.1	47	RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTCGGGG	NONE	.	.	hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5,Pfam_domain:PF03250	.	.	ENSP00000356257	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000367288	Transcript	.	.	ENSG00000163431	6647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	LMOD1_HUMAN	LMOD1	HGNC	B4DIX9_HUMAN	.	UPI00003665F4	SNV	LMOD1,missense_variant,p.Asp16Val,ENST00000367288,;	294	103	235	SUCCESS
OTUD3	23252	.	GRCh37	1	20224042	20224042	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs528426495	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	80	0	ENST00000375120.3:c.493A>T	p.Thr165Ser	p.T165S	ENST00000375120	NM_015207.1	165	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS41279.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTACAGAG	NONE	.	.	PROSITE_profiles:PS50802,hmmpanther:PTHR12419:SF5,hmmpanther:PTHR12419,Pfam_domain:PF02338,Superfamily_domains:SSF54001	.	.	ENSP00000364261	.	4/8	.	.	.	.	.	.	.	.	rs528426495	4/8	PASS	ENST00000375120	Transcript	.	.	ENSG00000169914	29038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.147)	.	tolerated(0.53)	.	OTUD3_HUMAN	OTUD3	HGNC	Q0VDK5_HUMAN	.	UPI000004DB04	SNV	OTUD3,missense_variant,p.Thr165Ser,ENST00000375120,;OTUD3,non_coding_transcript_exon_variant,,ENST00000466697,;	494	80	64	SUCCESS
LAX1	54900	.	GRCh37	1	203734781	203734781	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	19	99	0	ENST00000442561.2:c.88A>T	p.Arg30Ter	p.R30*	ENST00000442561	NM_017773.3	30	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS1441.2	88	RADIA|MUTECT|MUSE|VARSCANS	.	TGGACAGGTGA	NONE	.	.	hmmpanther:PTHR24091	.	.	ENSP00000406970	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000442561	Transcript	.	.	ENSG00000122188	26005	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LAX1_HUMAN	LAX1	HGNC	.	.	UPI000007446D	SNV	LAX1,stop_gained,p.Arg30Ter,ENST00000442561,;LAX1,intron_variant,,ENST00000367217,;LAX1,upstream_gene_variant,,ENST00000367215,;	478	99	197	SUCCESS
MAPKAPK2	9261	.	GRCh37	1	206905802	206905802	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	17	123	0	ENST00000367103.3:c.1060-118A>T		p.*354*	ENST00000367103	NM_004759.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31001.1	.	MUTECT|MUSE|VARSCANS	.	CTCCCACCCCT	NONE	.	.	.	.	.	ENSP00000356070	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367103	Transcript	.	.	ENSG00000162889	6887	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAPK2_HUMAN	MAPKAPK2	HGNC	.	.	UPI0000112289	SNV	MAPKAPK2,3_prime_UTR_variant,,ENST00000294981,;MAPKAPK2,intron_variant,,ENST00000367103,;MAPKAPK2,downstream_gene_variant,,ENST00000479009,;MAPKAPK2,downstream_gene_variant,,ENST00000493447,;	.	123	196	SUCCESS
C1orf65	0	.	GRCh37	1	223567976	223567976	+	synonymous_variant	Silent	SNP	C	C	A	rs373155319	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	347	282	2	ENST00000366875.3:c.1159C>A	p.Arg387=	p.R387=	ENST00000366875	NM_152610.2	387	Cgg/Agg	0	T:0	.	.	.	.	A	R	protein_coding	YES	CCDS1537.1	1159	RADIA|SOMATICSNIPER|VARSCANS	.	TGCTACGGAAC	NONE	byFrequency|byCluster	.	Pfam_domain:PF15558,Coiled-coils_(Ncoils):Coil	.	T:0.0001	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	rs373155319	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,synonymous_variant,p.%3D,ENST00000366875,;	1262	284	559	SUCCESS
SDE2	163859	.	GRCh37	1	226186994	226186994	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	92	177	1	ENST00000272091.7:c.20T>C	p.Leu7Pro	p.L7P	ENST00000272091	NM_152608.3	7	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41473.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGCGCC	NONE	.	.	hmmpanther:PTHR12786:SF1,hmmpanther:PTHR12786	.	.	ENSP00000272091	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000272091	Transcript	.	.	ENSG00000143751	26643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious(0.03)	.	SDE2_HUMAN	SDE2	HGNC	.	.	UPI0000204007	SNV	SDE2,missense_variant,p.Leu7Pro,ENST00000272091,;	39	178	319	SUCCESS
ACBD3	64746	.	GRCh37	1	226340311	226340311	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	101	75	0	ENST00000366812.5:c.1100C>T	p.Pro367Leu	p.P367L	ENST00000366812	NM_022735.3	367	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1551.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTGGAAGA	NONE	.	.	hmmpanther:PTHR22973:SF11,hmmpanther:PTHR22973	.	.	ENSP00000355777	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000366812	Transcript	.	.	ENSG00000182827	15453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0)	.	GCP60_HUMAN	ACBD3	HGNC	.	.	UPI000006F1E1	SNV	ACBD3,missense_variant,p.Pro367Leu,ENST00000366812,;RP11-275I14.4,intron_variant,,ENST00000440540,;ACBD3,downstream_gene_variant,,ENST00000464927,;	1155	75	168	SUCCESS
EPHB2	2048	.	GRCh37	1	23235588	23235588	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759393577	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	37	130	0	ENST00000400191.3:c.2426T>C	p.Val809Ala	p.V809A	ENST00000400191	NM_004442.6	809	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS230.1	2429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTGTGGA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000363763	.	13/16	.	.	.	.	.	.	.	.	rs759393577	13/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	tolerated(0.13)	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,missense_variant,p.Val804Ala,ENST00000374627,;EPHB2,missense_variant,p.Val810Ala,ENST00000374632,;EPHB2,missense_variant,p.Val809Ala,ENST00000400191,;EPHB2,missense_variant,p.Val809Ala,ENST00000374630,;	2442	130	103	SUCCESS
NID1	4811	.	GRCh37	1	236205357	236205357	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	25	124	0	ENST00000264187.6:c.988A>T	p.Ser330Cys	p.S330C	ENST00000264187	NM_002508.2	330	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1608.1	988	RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGGGCA	NONE	.	.	hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529	.	.	ENSP00000264187	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000264187	Transcript	.	.	ENSG00000116962	7821	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.447)	.	tolerated(0.06)	.	NID1_HUMAN	NID1	HGNC	.	.	UPI000013D4D9	SNV	NID1,missense_variant,p.Ser330Cys,ENST00000264187,;NID1,missense_variant,p.Ser330Cys,ENST00000366595,;	1071	124	198	SUCCESS
RYR2	6262	.	GRCh37	1	237729922	237729922	+	synonymous_variant	Silent	SNP	C	C	T	rs1344074824	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	48	117	0	ENST00000366574.2:c.3270C>T	p.Ala1090=	p.A1090=	ENST00000366574	NM_001035.2	1090	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55691.1	3270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCCGAGAA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000355533	.	28/105	.	.	.	.	.	.	.	.	.	28/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	3587	117	267	SUCCESS
RYR2	6262	.	GRCh37	1	237774059	237774059	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	17	74	0	ENST00000366574.2:c.4684-3T>G		p.X1562_splice	ENST00000366574	NM_001035.2	1562		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55691.1	.	MUSE|VARSCANS	.	TCCGCTAGAAT	NONE	.	.	.	.	.	ENSP00000355533	.	.	.	.	.	.	.	.	.	.	COSM1601969,COSM3705671	.	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	35/104	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,splice_region_variant,,ENST00000542537,;RYR2,splice_region_variant,,ENST00000366574,;RYR2,splice_region_variant,,ENST00000360064,;	.	74	186	SUCCESS
RYR2	6262	.	GRCh37	1	237972236	237972236	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	229	22	120	0	ENST00000366574.2:c.14334A>T	p.Val4778=	p.V4778=	ENST00000366574	NM_001035.2	4778	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS55691.1	14334	MUTECT|MUSE|VARSCANS	.	GTTGTATACCT	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000355533	.	100/105	.	.	.	.	.	.	.	.	.	100/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	14651	120	251	SUCCESS
CHRM3	1131	.	GRCh37	1	240072372	240072372	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	297	26	171	0	ENST00000255380.4:c.1621C>G	p.Pro541Ala	p.P541A	ENST00000255380	NM_000740.2	541	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS1616.1	1621	MUTECT|MUSE|VARSCANS	.	TGAACCCCGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Pro541Ala,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	2400	171	323	SUCCESS
ZNF670	93474	.	GRCh37	1	247202710	247202710	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	12	72	0	ENST00000366503.2:c.130+3A>T		p.X44_splice	ENST00000366503	NM_001204220.1	44		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31087.1	.	MUSE|VARSCANS	.	ATTCTTACCTA	NONE	.	.	.	.	.	ENSP00000355459	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366503	Transcript	.	.	ENSG00000135747	28167	.	.	LOW	2/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN670_HUMAN	ZNF670	HGNC	.	.	UPI0000070EC3	SNV	ZNF670,splice_region_variant,,ENST00000366503,;ZNF670,intron_variant,,ENST00000474541,;ZNF670,intron_variant,,ENST00000465049,;RP11-551G24.2,upstream_gene_variant,,ENST00000439523,;	.	72	153	SUCCESS
ZNF124	7678	.	GRCh37	1	247320351	247320351	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	14	98	0	ENST00000543802.2:c.573T>C	p.Ser191=	p.S191=	ENST00000543802		191	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31089.1	387	MUTECT|MUSE	.	AGGTGACTGGA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF136,PROSITE_profiles:PS50157	.	.	ENSP00000340749	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340684	Transcript	.	.	ENSG00000196418	12907	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN124_HUMAN	ZNF124	HGNC	.	.	UPI00001A818D	SNV	ZNF124,synonymous_variant,p.%3D,ENST00000340684,;ZNF124,synonymous_variant,p.%3D,ENST00000543802,;ZNF124,intron_variant,,ENST00000472531,;ZNF124,intron_variant,,ENST00000491356,;ZNF124,non_coding_transcript_exon_variant,,ENST00000491848,;	526	98	204	SUCCESS
OR1C1	26188	.	GRCh37	1	247921269	247921269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	26	140	1	ENST00000408896.2:c.440G>T	p.Gly147Val	p.G147V	ENST00000408896	NM_012353.2	147	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41481.1	440	MUTECT|MUSE|VARSCANS	.	ACAGTCCAGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF108,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000386138	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408896	Transcript	.	.	ENSG00000221888	8182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.045)	.	tolerated(0.67)	.	OR1C1_HUMAN	OR1C1	HGNC	.	.	UPI000004B1DC	SNV	OR1C1,missense_variant,p.Gly147Val,ENST00000408896,;	714	141	283	SUCCESS
OR2AK2	391191	.	GRCh37	1	248128887	248128887	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	62	0	ENST00000366480.3:c.254A>C	p.Asp85Ala	p.D85A	ENST00000366480	NM_001004491.1	85	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS31102.1	254	RADIA|MUTECT|MUSE|VARSCANS	.	CGTTGACCTCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF1,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355436	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366480	Transcript	.	.	ENSG00000187080	19569	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	O2AK2_HUMAN	OR2AK2	HGNC	.	.	UPI00003B2873	SNV	OR2AK2,missense_variant,p.Asp85Ala,ENST00000366480,;OR2L13,intron_variant,,ENST00000366478,;	353	62	100	SUCCESS
OR2T12	127064	.	GRCh37	1	248458294	248458294	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs536165632	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	768	77	470	0	ENST00000317996.1:c.587C>A	p.Ala196Asp	p.A196D	ENST00000317996	NM_001004692.1	196	gCc/gAc	0	.	A:0	.	A:0	.	T	A/D	protein_coding	YES	CCDS31110.1	587	MUTECT|MUSE|VARSCANS	.	ACATGGCGTTT	BUFFER|p.E194K|c.580G>A|3	by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	.	ENSP00000324583	A:0	1/1	.	.	.	.	.	.	.	.	rs536165632	1/1	PASS	ENST00000317996	Transcript	.	A:0.0002	ENSG00000177201	19592	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.808)	A:0.001	deleterious(0)	.	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,missense_variant,p.Ala196Asp,ENST00000317996,;	587	470	845	SUCCESS
PHC2	1912	.	GRCh37	1	33794569	33794569	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1414711138	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	55	0	ENST00000257118.5:c.2324A>G	p.His775Arg	p.H775R	ENST00000257118	NM_198040.2	775	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS378.1	2324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATATGCATG	NONE	.	.	hmmpanther:PTHR12247:SF71,hmmpanther:PTHR12247	.	.	ENSP00000257118	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000257118	Transcript	.	.	ENSG00000134686	3183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.17)	.	PHC2_HUMAN	PHC2	HGNC	.	.	UPI0000074391	SNV	PHC2,missense_variant,p.His776Arg,ENST00000419414,;PHC2,missense_variant,p.His240Arg,ENST00000373418,;PHC2,missense_variant,p.His746Arg,ENST00000431992,;PHC2,missense_variant,p.His240Arg,ENST00000373416,;PHC2,missense_variant,p.His381Arg,ENST00000373422,;PHC2,missense_variant,p.His775Arg,ENST00000257118,;MIR3605,downstream_gene_variant,,ENST00000583214,;RP11-415J8.3,downstream_gene_variant,,ENST00000588828,;RP11-415J8.3,downstream_gene_variant,,ENST00000587696,;RP11-415J8.3,downstream_gene_variant,,ENST00000457957,;PHC2,non_coding_transcript_exon_variant,,ENST00000485928,;PHC2,non_coding_transcript_exon_variant,,ENST00000467894,;PHC2,downstream_gene_variant,,ENST00000486897,;PHC2,downstream_gene_variant,,ENST00000493483,;PHC2,downstream_gene_variant,,ENST00000473158,;	2378	55	45	SUCCESS
RLF	6018	.	GRCh37	1	40701476	40701476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	38	260	0	ENST00000372771.4:c.1102G>T	p.Gly368Cys	p.G368C	ENST00000372771	NM_012421.3	368	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS448.1	1102	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGGTCTT	NONE	.	.	hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507	.	.	ENSP00000361857	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372771	Transcript	.	.	ENSG00000117000	10025	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,missense_variant,p.Gly368Cys,ENST00000372771,;	1129	260	246	SUCCESS
INADL	0	.	GRCh37	1	62263013	62263013	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs200079447	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	42	101	0	ENST00000371158.2:c.1315C>T	p.Arg439Ter	p.R439*	ENST00000371158	NM_176877.2	439	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS617.2	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTACGAAAT	SITE|p.R439*|c.1315C>T|3	byCluster	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000360200	.	11/43	.	.	.	.	.	.	.	.	rs200079447,COSM218489	11/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,stop_gained,p.Arg439Ter,ENST00000316485,;INADL,stop_gained,p.Arg439Ter,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	1429	101	116	SUCCESS
ESPN	83715	.	GRCh37	1	6500800	6500800	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	411	256	695	1	ENST00000377828.1:c.790G>T	p.Gly264Trp	p.G264W	ENST00000377828	NM_031475.2	264	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS70.1	790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCGGGGAG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF14,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000367059	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000377828	Transcript	.	.	ENSG00000187017	13281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ESPN_HUMAN	ESPN	HGNC	.	.	UPI000013D2B6	SNV	ESPN,missense_variant,p.Gly264Trp,ENST00000377828,;ESPN,missense_variant,p.Gly49Trp,ENST00000418286,;RP1-202O8.2,downstream_gene_variant,,ENST00000419034,;	958	696	667	SUCCESS
IL12RB2	3595	.	GRCh37	1	67855778	67855778	+	synonymous_variant	Silent	SNP	T	T	C	rs763020380	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	86	0	ENST00000262345.1:c.2013T>C	p.Asn671=	p.N671=	ENST00000262345	NM_001559.2	671	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS638.1	2013	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAATAGCAC	NONE	byFrequency	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79	.	.	ENSP00000262345	.	15/16	.	.	.	.	.	.	.	.	rs763020380	15/16	PASS	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,synonymous_variant,p.%3D,ENST00000544434,;IL12RB2,synonymous_variant,p.%3D,ENST00000262345,;IL12RB2,intron_variant,,ENST00000541374,;IL12RB2,intron_variant,,ENST00000371000,;IL12RB2,non_coding_transcript_exon_variant,,ENST00000465396,;	2653	86	61	SUCCESS
ELTD1	0	.	GRCh37	1	79383362	79383362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	285	48	346	0	ENST00000370742.3:c.1706A>T	p.Asn569Ile	p.N569I	ENST00000370742	NM_022159.3	569	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS41352.1	1706	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTTGTTT	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF00002	.	.	ENSP00000359778	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Asn569Ile,ENST00000370742,;ELTD1,missense_variant,p.Asn27Ile,ENST00000401034,;	1770	346	333	SUCCESS
MCOLN3	55283	.	GRCh37	1	85487861	85487861	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	78	204	0	ENST00000370589.2:c.1212C>T	p.Thr404=	p.T404=	ENST00000370589	NM_018298.10	404	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS701.1	1212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGGTCAA	NONE	.	.	hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF5,Pfam_domain:PF08016	.	.	ENSP00000359621	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000370589	Transcript	.	.	ENSG00000055732	13358	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCLN3_HUMAN	MCOLN3	HGNC	.	.	UPI0000073A4B	SNV	MCOLN3,synonymous_variant,p.%3D,ENST00000341115,;MCOLN3,synonymous_variant,p.%3D,ENST00000370589,;WDR63,intron_variant,,ENST00000370596,;MCOLN3,downstream_gene_variant,,ENST00000370587,;MCOLN3,non_coding_transcript_exon_variant,,ENST00000474447,;MCOLN3,downstream_gene_variant,,ENST00000475312,;MCOLN3,downstream_gene_variant,,ENST00000490600,;	1265	204	202	SUCCESS
PKN2	5586	.	GRCh37	1	89226006	89226006	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	120	328	0	ENST00000370521.3:c.451G>A	p.Val151Ile	p.V151I	ENST00000370521	NM_006256.2	151	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS714.1	451	RADIA|MUTECT|MUSE	.	TTAAAGTAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24357:SF76,hmmpanther:PTHR24357,Pfam_domain:PF02185,Gene3D:1.10.287.160,SMART_domains:SM00742,Superfamily_domains:SSF46585	.	.	ENSP00000359552	.	3/22	.	.	.	.	.	.	.	.	COSM3930873,COSM3930874	3/22	PASS	ENST00000370521	Transcript	.	.	ENSG00000065243	9406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.971)	.	deleterious(0.03)	1,1	PKN2_HUMAN	PKN2	HGNC	Q6P5W9_HUMAN	.	UPI000004D291	SNV	PKN2,missense_variant,p.Val151Ile,ENST00000370513,;PKN2,missense_variant,p.Val151Ile,ENST00000370521,;PKN2,missense_variant,p.Val151Ile,ENST00000316005,;PKN2,5_prime_UTR_variant,,ENST00000370505,;	810	328	305	SUCCESS
EVI5	7813	.	GRCh37	1	93131551	93131551	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	43	0	ENST00000370331.1:c.1291-2A>C		p.X431_splice	ENST00000370331	NM_005665.4	431		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30774.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTGCCAA	NONE	.	.	.	.	.	ENSP00000359356	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370331	Transcript	.	.	ENSG00000067208	3501	.	.	HIGH	10/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EVI5_HUMAN	EVI5	HGNC	.	.	UPI0000470AFE	SNV	EVI5,splice_acceptor_variant,,ENST00000543509,;EVI5,splice_acceptor_variant,,ENST00000540033,;EVI5,splice_acceptor_variant,,ENST00000370331,;EVI5,splice_acceptor_variant,,ENST00000492613,;EVI5,splice_acceptor_variant,,ENST00000468580,;EVI5,upstream_gene_variant,,ENST00000491940,;	.	43	53	SUCCESS
H6PD	9563	.	GRCh37	1	9324489	9324489	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	146	0	ENST00000377403.2:c.1937T>A	p.Ile646Asn	p.I646N	ENST00000377403	NM_004285.3	646	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS101.1	1937	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGATCCCCT	NONE	.	.	hmmpanther:PTHR23429:SF2,hmmpanther:PTHR23429,TIGRFAM_domain:TIGR01198,Pfam_domain:PF01182,Gene3D:3.40.50.1360,Superfamily_domains:SSF100950	.	.	ENSP00000366620	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377403	Transcript	.	.	ENSG00000049239	4795	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	G6PE_HUMAN	H6PD	HGNC	.	.	UPI000013C9AD	SNV	H6PD,missense_variant,p.Ile657Asn,ENST00000602477,;H6PD,missense_variant,p.Ile646Asn,ENST00000377403,;H6PD,upstream_gene_variant,,ENST00000495451,;	2239	146	111	SUCCESS
SPSB1	80176	.	GRCh37	1	9416188	9416188	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	11	121	0	ENST00000328089.6:c.238G>A	p.Val80Met	p.V80M	ENST00000328089	NM_025106.3	80	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS102.1	238	MUTECT|MUSE|VARSCANS	.	ATCCGGTGGCC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF8,Superfamily_domains:SSF49899	.	.	ENSP00000330221	.	2/3	.	.	.	.	.	.	.	.	COSM1503873	2/3	PASS	ENST00000328089	Transcript	.	.	ENSG00000171621	30628	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.917)	.	tolerated(0.05)	1	SPSB1_HUMAN	SPSB1	HGNC	A2A276_HUMAN	.	UPI000006D00B	SNV	SPSB1,missense_variant,p.Val80Met,ENST00000450402,;SPSB1,missense_variant,p.Val80Met,ENST00000328089,;SPSB1,missense_variant,p.Val80Met,ENST00000377399,;SPSB1,missense_variant,p.Val80Met,ENST00000357898,;	579	121	118	SUCCESS
SLC44A3	126969	.	GRCh37	1	95330430	95330430	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs767621580	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	45	0	ENST00000271227.6:c.1370A>T	p.Tyr457Phe	p.Y457F	ENST00000271227	NM_001258340.1	457	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS44176.1	1370	RADIA|MUTECT|MUSE|VARSCANS	.	CATGTACATGC	NONE	byFrequency	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13,Pfam_domain:PF04515	.	.	ENSP00000271227	.	11/15	.	.	.	.	.	.	.	.	rs767621580	11/15	PASS	ENST00000271227	Transcript	.	.	ENSG00000143036	28689	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.14)	.	CTL3_HUMAN	SLC44A3	HGNC	F8W7F3_HUMAN	.	UPI0000206066	SNV	SLC44A3,missense_variant,p.Tyr421Phe,ENST00000446120,;SLC44A3,missense_variant,p.Tyr457Phe,ENST00000271227,;SLC44A3,missense_variant,p.Tyr425Phe,ENST00000529450,;SLC44A3,missense_variant,p.Tyr409Phe,ENST00000467909,;SLC44A3,missense_variant,p.Tyr377Phe,ENST00000532427,;SLC44A3,missense_variant,p.Tyr389Phe,ENST00000527077,;SLC44A3,upstream_gene_variant,,ENST00000532670,;SLC44A3,non_coding_transcript_exon_variant,,ENST00000530397,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;	1472	45	45	SUCCESS
RIN2	54453	.	GRCh37	20	19955716	19955716	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1300	208	1088	1	ENST00000255006.6:c.1194T>A	p.Pro398=	p.P398=	ENST00000255006	NM_018993.3	398	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS56182.1	1194	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF51	.	.	ENSP00000255006	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000255006	Transcript	1	.	ENSG00000132669	18750	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RIN2_HUMAN	RIN2	HGNC	.	.	UPI00004709D0	SNV	RIN2,synonymous_variant,p.%3D,ENST00000255006,;RIN2,intron_variant,,ENST00000440354,;RIN2,non_coding_transcript_exon_variant,,ENST00000484638,;RIN2,downstream_gene_variant,,ENST00000467569,;	1343	1090	1509	SUCCESS
XRN2	22803	.	GRCh37	20	21362681	21362681	+	synonymous_variant	Silent	SNP	G	G	A	rs1434477125	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	51	0	ENST00000377191.3:c.2634G>A	p.Gln878=	p.Q878=	ENST00000377191	NM_012255.3	878	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS13144.1	2634	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCAAAG	NONE	.	.	hmmpanther:PTHR12341,PIRSF_domain:PIRSF037239	.	.	ENSP00000366396	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,synonymous_variant,p.%3D,ENST00000539513,;XRN2,synonymous_variant,p.%3D,ENST00000430571,;XRN2,synonymous_variant,p.%3D,ENST00000377191,;	2729	51	78	SUCCESS
THBD	7056	.	GRCh37	20	23028430	23028430	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1166732867	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	7	97	0	ENST00000377103.2:c.1712C>T	p.Thr571Met	p.T571M	ENST00000377103	NM_000361.2	571	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS13148.1	1712	MUTECT|MUSE	.	GCGGCGTCCGC	NONE	.	.	hmmpanther:PTHR24036,hmmpanther:PTHR24036:SF5,PIRSF_domain:PIRSF001775,Prints_domain:PR00907	.	.	ENSP00000366307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377103	Transcript	1	.	ENSG00000178726	11784	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.29)	.	TRBM_HUMAN	THBD	HGNC	.	.	UPI00000002BD	SNV	THBD,missense_variant,p.Thr571Met,ENST00000377103,;	1949	97	132	SUCCESS
REM1	28954	.	GRCh37	20	30070206	30070206	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	74	0	ENST00000201979.2:c.540G>T	p.Arg180=	p.R180=	ENST00000201979	NM_014012.5	180	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13181.1	540	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGCGCAC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,PIRSF_domain:PIRSF038017,Superfamily_domains:SSF52540	.	.	ENSP00000201979	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000201979	Transcript	.	.	ENSG00000088320	15922	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	REM1_HUMAN	REM1	HGNC	.	.	UPI0000073CEB	SNV	REM1,synonymous_variant,p.%3D,ENST00000201979,;LINC00028,upstream_gene_variant,,ENST00000435497,;	833	74	65	SUCCESS
MYLK2	85366	.	GRCh37	20	30408220	30408220	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs727504681	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1211	290	1111	0	ENST00000375985.4:c.344A>T	p.Gln115Leu	p.Q115L	ENST00000375985	NM_033118.3	115	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13191.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	TGAGCAGGGAG	NONE	.	.	hmmpanther:PTHR24347:SF118,hmmpanther:PTHR24347	.	.	ENSP00000365162	.	2/12	.	.	.	.	.	.	.	.	rs727504681	2/12	PASS	ENST00000375994	Transcript	1	.	ENSG00000101306	16243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.149)	.	deleterious_low_confidence(0.02)	.	MYLK2_HUMAN	MYLK2	HGNC	.	.	UPI0000041851	SNV	MYLK2,missense_variant,p.Gln115Leu,ENST00000375985,;MYLK2,missense_variant,p.Gln115Leu,ENST00000375994,;	617	1111	1502	SUCCESS
E2F1	1869	.	GRCh37	20	32266109	32266109	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	35	125	0	ENST00000343380.5:c.623A>T	p.Gln208Leu	p.Q208L	ENST00000343380	NM_005225.2	208	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13224.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTGGGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF144074,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF21	.	.	ENSP00000345571	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000343380	Transcript	.	.	ENSG00000101412	3113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0)	.	E2F1_HUMAN	E2F1	HGNC	.	.	UPI000002EDEC	SNV	E2F1,missense_variant,p.Gln208Leu,ENST00000343380,;NECAB3,upstream_gene_variant,,ENST00000439478,;NECAB3,upstream_gene_variant,,ENST00000606690,;NECAB3,upstream_gene_variant,,ENST00000246190,;NECAB3,upstream_gene_variant,,ENST00000375238,;RP1-63M2.5,downstream_gene_variant,,ENST00000606866,;NECAB3,upstream_gene_variant,,ENST00000606699,;NECAB3,upstream_gene_variant,,ENST00000493590,;NECAB3,upstream_gene_variant,,ENST00000485399,;NECAB3,upstream_gene_variant,,ENST00000484824,;NECAB3,upstream_gene_variant,,ENST00000607055,;NECAB3,upstream_gene_variant,,ENST00000607805,;NECAB3,upstream_gene_variant,,ENST00000488489,;	763	125	163	SUCCESS
MAP1LC3A	84557	.	GRCh37	20	33147194	33147194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	16	94	0	ENST00000360668.3:c.140T>A	p.Leu47Gln	p.L47Q	ENST00000360668		47	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13237.1	152	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCTGGACA	NONE	.	.	Superfamily_domains:SSF54236,Pfam_domain:PF02991,Gene3D:3.10.20.90,hmmpanther:PTHR10969:SF14,hmmpanther:PTHR10969	.	.	ENSP00000363970	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000374837	Transcript	.	.	ENSG00000101460	6838	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	MLP3A_HUMAN	MAP1LC3A	HGNC	.	.	UPI000012F42A	SNV	MAP1LC3A,missense_variant,p.Leu47Gln,ENST00000397709,;MAP1LC3A,missense_variant,p.Leu51Gln,ENST00000374837,;MAP1LC3A,missense_variant,p.Leu47Gln,ENST00000360668,;PIGU,downstream_gene_variant,,ENST00000452740,;PIGU,downstream_gene_variant,,ENST00000217446,;PIGU,downstream_gene_variant,,ENST00000374820,;PIGU,downstream_gene_variant,,ENST00000438215,;MAP1LC3A,non_coding_transcript_exon_variant,,ENST00000476428,;	288	94	121	SUCCESS
DHX35	60625	.	GRCh37	20	37662954	37662954	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	41	0	ENST00000252011.3:c.2061A>G	p.Gln687=	p.Q687=	ENST00000252011	NM_021931.3	687	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS13310.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAGGAAC	NONE	.	.	hmmpanther:PTHR18934	.	.	ENSP00000252011	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000252011	Transcript	.	.	ENSG00000101452	15861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX35_HUMAN	DHX35	HGNC	.	.	UPI0000129088	SNV	DHX35,synonymous_variant,p.%3D,ENST00000252011,;DHX35,synonymous_variant,p.%3D,ENST00000373325,;DHX35,synonymous_variant,p.%3D,ENST00000373323,;DHX35,synonymous_variant,p.%3D,ENST00000449559,;DHX35,3_prime_UTR_variant,,ENST00000484417,;DHX35,non_coding_transcript_exon_variant,,ENST00000482619,;DHX35,non_coding_transcript_exon_variant,,ENST00000493450,;	2094	41	67	SUCCESS
CDC25B	994	.	GRCh37	20	3781408	3781408	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	99	0	ENST00000245960.5:c.478A>T	p.Ser160Cys	p.S160C	ENST00000245960	NM_021873.2	160	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13067.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGCCCC	NONE	.	.	hmmpanther:PTHR10828:SF46,hmmpanther:PTHR10828,Pfam_domain:PF06617	.	.	ENSP00000245960	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000245960	Transcript	.	.	ENSG00000101224	1726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MPIP2_HUMAN	CDC25B	HGNC	D3DVY6_HUMAN,B3KS38_HUMAN	.	UPI000012F474	SNV	CDC25B,missense_variant,p.Ser146Cys,ENST00000439880,;CDC25B,missense_variant,p.Ser96Cys,ENST00000379598,;CDC25B,missense_variant,p.Ser96Cys,ENST00000344256,;CDC25B,missense_variant,p.Ser160Cys,ENST00000245960,;CDC25B,intron_variant,,ENST00000340833,;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,upstream_gene_variant,,ENST00000480816,;CDC25B,upstream_gene_variant,,ENST00000468979,;CDC25B,upstream_gene_variant,,ENST00000495915,;	1175	99	91	SUCCESS
SMOX	54498	.	GRCh37	20	4163397	4163397	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	54	0	ENST00000305958.4:c.1271T>A	p.Leu424Gln	p.L424Q	ENST00000305958	NM_175839.2	424	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13075.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCTGAGCG	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF44,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF54373	.	.	ENSP00000307252	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000305958	Transcript	.	.	ENSG00000088826	15862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SMOX_HUMAN	SMOX	HGNC	.	.	UPI000006CE86	SNV	SMOX,missense_variant,p.Leu424Gln,ENST00000305958,;SMOX,missense_variant,p.Leu371Gln,ENST00000339123,;SMOX,missense_variant,p.Leu281Gln,ENST00000457205,;SMOX,missense_variant,p.Leu371Gln,ENST00000278795,;SMOX,missense_variant,p.Leu424Gln,ENST00000379460,;SMOX,intron_variant,,ENST00000346595,;SMOX,intron_variant,,ENST00000494098,;SMOX,upstream_gene_variant,,ENST00000466004,;SMOX,downstream_gene_variant,,ENST00000484515,;SMOX,upstream_gene_variant,,ENST00000486998,;	1496	54	78	SUCCESS
HNF4A	3172	.	GRCh37	20	43058295	43058295	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	112	0	ENST00000316099.4:c.1415A>T	p.Glu472Val	p.E472V	ENST00000316099	NM_001258355.1	472	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13330.1	1415	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGAAGTTA	NONE	.	.	.	.	.	ENSP00000312987	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000316099	Transcript	1	.	ENSG00000101076	5024	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	HNF4A_HUMAN	HNF4A	HGNC	F1D8T1_HUMAN	.	UPI000016A0BA	SNV	HNF4A,missense_variant,p.Glu462Val,ENST00000415691,;HNF4A,missense_variant,p.Glu472Val,ENST00000316099,;HNF4A,missense_variant,p.Glu450Val,ENST00000316673,;HNF4A,missense_variant,p.Glu440Val,ENST00000457232,;RP5-1013A22.5,upstream_gene_variant,,ENST00000608247,;AL132772.1,upstream_gene_variant,,ENST00000581483,;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	1504	112	121	SUCCESS
PABPC1L	80336	.	GRCh37	20	43566766	43566766	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	9	109	0	ENST00000217073.2:c.1710G>C	p.Met570Ile	p.M570I	ENST00000217073		570	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS42878.1	1710	MUTECT|MUSE	.	GGCATGCTGCT	NONE	.	.	PROSITE_profiles:PS51309,hmmpanther:PTHR24011:SF230,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628,Gene3D:1.10.1900.10,Pfam_domain:PF00658,SMART_domains:SM00517,Superfamily_domains:SSF63570	.	.	ENSP00000255136	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000255136	Transcript	.	.	ENSG00000101104	15797	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	PAP1L_HUMAN	PABPC1L	HGNC	Q4VXT4_HUMAN	.	UPI00005190DD	SNV	PABPC1L,missense_variant,p.Met570Ile,ENST00000255136,;PABPC1L,missense_variant,p.Cys93Ser,ENST00000372822,;PABPC1L,missense_variant,p.Met124Ile,ENST00000372819,;PABPC1L,missense_variant,p.Met106Ile,ENST00000372826,;PABPC1L,missense_variant,p.Met124Ile,ENST00000372824,;PABPC1L,missense_variant,p.Met570Ile,ENST00000217073,;PABPC1L,missense_variant,p.Met124Ile,ENST00000217075,;PABPC1L,3_prime_UTR_variant,,ENST00000537323,;TOMM34,downstream_gene_variant,,ENST00000372813,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000489068,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000482486,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000476056,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000474208,;PABPC1L,intron_variant,,ENST00000490798,;PABPC1L,downstream_gene_variant,,ENST00000465761,;PABPC1L,missense_variant,p.Cys152Ser,ENST00000479873,;	1792	109	119	SUCCESS
ZNF335	63925	.	GRCh37	20	44596976	44596976	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	5	56	0	ENST00000322927.2:c.468G>A	p.Glu156=	p.E156=	ENST00000322927	NM_022095.3	156	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS13389.1	468	MUTECT|MUSE|VARSCANS	.	CCATCCTCAGC	NONE	.	.	hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403	.	.	ENSP00000325326	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,synonymous_variant,p.%3D,ENST00000322927,;ZNF335,intron_variant,,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000476822,;ZNF335,non_coding_transcript_exon_variant,,ENST00000494955,;ZNF335,upstream_gene_variant,,ENST00000475002,;	569	56	68	SUCCESS
PREX1	57580	.	GRCh37	20	47361579	47361579	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	15	102	0	ENST00000371941.3:c.397A>T	p.Asn133Tyr	p.N133Y	ENST00000371941	NM_020820.3	133	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS13410.1	397	RADIA|MUTECT|MUSE|VARSCANS	.	AACATTCCCAA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000361009	.	3/40	.	.	.	.	.	.	.	.	.	3/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.836)	.	deleterious(0.05)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Asn133Tyr,ENST00000396220,;PREX1,missense_variant,p.Asn133Tyr,ENST00000371941,;	420	102	151	SUCCESS
STX16	8675	.	GRCh37	20	57246334	57246334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	91	0	ENST00000371141.4:c.773G>A	p.Gly258Glu	p.G258E	ENST00000371141	NM_001001433.2	258	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS13468.1	773	RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGGGGCGA	NONE	.	.	PROSITE_profiles:PS50192,hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957,PROSITE_patterns:PS00914,Gene3D:1.20.58.70,Pfam_domain:PF05739,SMART_domains:SM00397,Superfamily_domains:SSF47661	.	.	ENSP00000360183	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.314)	.	deleterious(0)	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,missense_variant,p.Gly241Glu,ENST00000355957,;STX16,missense_variant,p.Gly237Glu,ENST00000371132,;STX16,missense_variant,p.Gly258Glu,ENST00000371141,;STX16,missense_variant,p.Gly254Glu,ENST00000358029,;STX16,missense_variant,p.Gly205Glu,ENST00000359617,;STX16,missense_variant,p.Gly258Glu,ENST00000361830,;STX16,missense_variant,p.Gly241Glu,ENST00000361770,;STX16,intron_variant,,ENST00000438253,;STX16,downstream_gene_variant,,ENST00000412911,;STX16,downstream_gene_variant,,ENST00000312283,;STX16,downstream_gene_variant,,ENST00000458280,;STX16,non_coding_transcript_exon_variant,,ENST00000490700,;STX16,non_coding_transcript_exon_variant,,ENST00000468590,;STX16,intron_variant,,ENST00000496003,;STX16,downstream_gene_variant,,ENST00000496117,;STX16-NPEPL1,missense_variant,p.Gly258Glu,ENST00000530122,;STX16,3_prime_UTR_variant,,ENST00000467096,;STX16,3_prime_UTR_variant,,ENST00000464640,;STX16,3_prime_UTR_variant,,ENST00000493301,;STX16,3_prime_UTR_variant,,ENST00000483434,;STX16,3_prime_UTR_variant,,ENST00000476384,;STX16,downstream_gene_variant,,ENST00000460655,;STX16-NPEPL1,upstream_gene_variant,,ENST00000413559,;	1497	91	118	SUCCESS
BIRC7	79444	.	GRCh37	20	61869278	61869278	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	23	125	0	ENST00000217169.3:c.373T>A	p.Phe125Ile	p.F125I	ENST00000217169	NM_139317.2	125	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS13513.1	373	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTTCTTC	NONE	.	.	PROSITE_profiles:PS50143,hmmpanther:PTHR10044,PROSITE_patterns:PS01282,Pfam_domain:PF00653,Gene3D:1.10.1170.10,SMART_domains:SM00238,Superfamily_domains:SSF57924	.	.	ENSP00000217169	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000217169	Transcript	.	.	ENSG00000101197	13702	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	BIRC7_HUMAN	BIRC7	HGNC	.	.	UPI00001269A6	SNV	BIRC7,missense_variant,p.Phe125Ile,ENST00000217169,;BIRC7,missense_variant,p.Phe125Ile,ENST00000342412,;NKAIN4,downstream_gene_variant,,ENST00000370307,;NKAIN4,downstream_gene_variant,,ENST00000370317,;BIRC7,upstream_gene_variant,,ENST00000395306,;NKAIN4,downstream_gene_variant,,ENST00000370313,;NKAIN4,downstream_gene_variant,,ENST00000370316,;MIR3196,upstream_gene_variant,,ENST00000579556,;NKAIN4,downstream_gene_variant,,ENST00000466885,;NKAIN4,downstream_gene_variant,,ENST00000470246,;	587	125	165	SUCCESS
BAGE2	85319	.	GRCh37	21	11038989	11038989	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	362	18	460	1	ENST00000470054.1:n.1215A>G		p.*405*	ENST00000470054				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	AGATTTGCCTC	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1215	461	380	SUCCESS
APP	351	.	GRCh37	21	27328044	27328044	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	144	0	ENST00000346798.3:c.1484del	p.Lys495ArgfsTer15	p.K495Rfs*15	ENST00000346798	NM_000484.3	495	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS13576.1	1484	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTTCTTTAGC	NONE	.	.	Superfamily_domains:0043391,Pfam_domain:PF12925,hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103	.	.	ENSP00000284981	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	deletion	APP,frameshift_variant,p.Lys471ArgfsTer15,ENST00000440126,;APP,frameshift_variant,p.Lys82ArgfsTer15,ENST00000456209,;APP,frameshift_variant,p.Lys439ArgfsTer15,ENST00000359726,;APP,frameshift_variant,p.Lys495ArgfsTer15,ENST00000358918,;APP,frameshift_variant,p.Lys476ArgfsTer15,ENST00000357903,;APP,frameshift_variant,p.Lys495ArgfsTer15,ENST00000346798,;APP,frameshift_variant,p.Lys364ArgfsTer15,ENST00000354192,;APP,frameshift_variant,p.Lys398ArgfsTer15,ENST00000448850,;APP,frameshift_variant,p.Lys439ArgfsTer15,ENST00000439274,;APP,frameshift_variant,p.Lys420ArgfsTer15,ENST00000348990,;APP,frameshift_variant,p.Lys385ArgfsTer15,ENST00000448388,;	1518	144	114	SUCCESS
IFNAR2	3455	.	GRCh37	21	34625087	34625087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	31	168	0	ENST00000342136.4:c.661A>G	p.Ile221Val	p.I221V	ENST00000342136		221	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13621.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAATAAAG	NONE	.	.	hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF23,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000343957	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000342136	Transcript	.	.	ENSG00000159110	5433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.859)	.	tolerated(0.64)	.	INAR2_HUMAN	IFNAR2	HGNC	C9JCU0_HUMAN	.	UPI000012D69B	SNV	IFNAR2,missense_variant,p.Ile221Val,ENST00000342136,;IFNAR2,missense_variant,p.Ile149Val,ENST00000413881,;IFNAR2,missense_variant,p.Ile221Val,ENST00000382241,;AP000295.9,missense_variant,p.Ile129Val,ENST00000433395,;IFNAR2,missense_variant,p.Ile221Val,ENST00000342101,;IFNAR2,missense_variant,p.Ile149Val,ENST00000443073,;IFNAR2,missense_variant,p.Ile221Val,ENST00000382264,;IFNAR2,missense_variant,p.Ile221Val,ENST00000404220,;IFNAR2,downstream_gene_variant,,ENST00000447980,;AP000295.9,missense_variant,p.Ile88Val,ENST00000432231,;IFNAR2,3_prime_UTR_variant,,ENST00000382238,;IFNAR2,3_prime_UTR_variant,,ENST00000417007,;	987	168	158	SUCCESS
HLCS	3141	.	GRCh37	21	38308987	38308987	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1167581539	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	21	156	0	ENST00000336648.4:c.758G>A	p.Gly253Asp	p.G253D	ENST00000336648	NM_000411.6	253	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS13647.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCAAAG	NONE	.	.	hmmpanther:PTHR12835,hmmpanther:PTHR12835:SF6	.	.	ENSP00000382071	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000399120	Transcript	.	.	ENSG00000159267	4976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.2)	.	BPL1_HUMAN	HLCS	HGNC	C9JD75_HUMAN,C9JCQ9_HUMAN	.	UPI0000126A8C	SNV	HLCS,missense_variant,p.Gly253Asp,ENST00000399120,;HLCS,missense_variant,p.Gly253Asp,ENST00000336648,;HLCS,downstream_gene_variant,,ENST00000427746,;HLCS,downstream_gene_variant,,ENST00000419461,;HLCS,downstream_gene_variant,,ENST00000448340,;	1989	156	108	SUCCESS
SIK1	150094	.	GRCh37	21	44845920	44845920	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	74	1	ENST00000270162.6:c.139C>T	p.Arg47Ter	p.R47*	ENST00000270162	NM_173354.3	47	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS33575.1	139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCGATGCC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF037014,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0,PROSITE_profiles:PS50011	.	.	ENSP00000270162	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000270162	Transcript	.	.	ENSG00000142178	11142	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIK1_HUMAN	SIK1	HGNC	.	.	UPI0000206F2B	SNV	SIK1,stop_gained,p.Arg47Ter,ENST00000270162,;SIK1,upstream_gene_variant,,ENST00000478426,;	272	75	63	SUCCESS
IGLV9-49	28773	.	GRCh37	22	22697775	22697775	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	57	0	ENST00000427632.2:c.63T>A	p.Pro21=	p.P21=	ENST00000427632		21	ccT/ccA	0	.	.	.	.	.	A	P	IG_V_gene	YES	.	63	RADIA|MUTECT|MUSE	.	CAGCCTGTGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF9,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000414456	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000427632	Transcript	.	.	ENSG00000223350	5933	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGLV9-49	HGNC	Q8TBD0_HUMAN,A2MYC8_HUMAN	.	UPI0000115528	SNV	IGLV9-49,synonymous_variant,p.%3D,ENST00000427632,;LL22NC03-80A10.11,downstream_gene_variant,,ENST00000436538,;LL22NC03-75A1.9,upstream_gene_variant,,ENST00000440829,;	100	57	56	SUCCESS
CHCHD10	400916	.	GRCh37	22	24109649	24109649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	66	0	ENST00000484558.2:c.173G>T	p.Gly58Val	p.G58V	ENST00000484558		58	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13815.1	173	MUTECT|MUSE	.	CCGAGCCCACG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13523:SF4,hmmpanther:PTHR13523	.	.	ENSP00000418428	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000484558	Transcript	.	.	ENSG00000250479	15559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CHC10_HUMAN	CHCHD10	HGNC	.	.	UPI00000700A8	SNV	CHCHD10,missense_variant,p.Gly58Val,ENST00000484558,;CHCHD10,missense_variant,p.Gly58Val,ENST00000401675,;CHCHD10,intron_variant,,ENST00000520222,;C22orf15,downstream_gene_variant,,ENST00000402217,;C22orf15,downstream_gene_variant,,ENST00000382821,;C22orf15,downstream_gene_variant,,ENST00000305199,;MMP11,upstream_gene_variant,,ENST00000489582,;MMP11,upstream_gene_variant,,ENST00000477567,;CHCHD10,synonymous_variant,p.%3D,ENST00000517886,;C22orf15,downstream_gene_variant,,ENST00000498542,;MMP11,upstream_gene_variant,,ENST00000465385,;C22orf15,downstream_gene_variant,,ENST00000477921,;CHCHD10,upstream_gene_variant,,ENST00000523865,;	742	66	44	SUCCESS
SLC5A1	6523	.	GRCh37	22	32462982	32462982	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	94	0	ENST00000266088.4:c.268A>C	p.Thr90Pro	p.T90P	ENST00000266088	NM_000343.3	90	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS13902.1	268	MUTECT|MUSE|VARSCANS	.	CCGGGACTGGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266088	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000266088	Transcript	.	.	ENSG00000100170	11036	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.918)	.	deleterious(0.01)	.	SC5A1_HUMAN	SLC5A1	HGNC	A4QPH0_HUMAN	.	UPI00001359EA	SNV	SLC5A1,missense_variant,p.Thr90Pro,ENST00000266088,;SLC5A1,5_prime_UTR_variant,,ENST00000543737,;	518	94	77	SUCCESS
TXN2	25828	.	GRCh37	22	36876815	36876815	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	97	0	ENST00000216185.2:c.70del	p.Trp24GlyfsTer19	p.W24Gfs*19	ENST00000216185		24	Tgg/gg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS13928.1	70	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCCACTGAC	NONE	.	.	hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF235	.	.	ENSP00000216185	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000216185	Transcript	.	.	ENSG00000100348	17772	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THIOM_HUMAN	TXN2	HGNC	M0QXH0_HUMAN,B4DX69_HUMAN	.	UPI0000001BCB	deletion	TXN2,frameshift_variant,p.Trp24GlyfsTer19,ENST00000403313,;TXN2,frameshift_variant,p.Trp24GlyfsTer19,ENST00000216185,;TXN2,5_prime_UTR_variant,,ENST00000416967,;TXN2,intron_variant,,ENST00000487725,;TXN2,frameshift_variant,p.Trp24GlyfsTer19,ENST00000411915,;	537	97	91	SUCCESS
TOMM22	56993	.	GRCh37	22	39078014	39078014	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	23	151	0	ENST00000216034.4:c.31G>A	p.Gly11Arg	p.G11R	ENST00000216034	NM_020243.4	11	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS13975.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGGGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12504,hmmpanther:PTHR12504:SF0	.	.	ENSP00000216034	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000216034	Transcript	.	.	ENSG00000100216	18002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	TOM22_HUMAN	TOMM22	HGNC	Q549C5_HUMAN	.	UPI0000040C1F	SNV	TOMM22,missense_variant,p.Gly11Arg,ENST00000216034,;JOSD1,downstream_gene_variant,,ENST00000216039,;RP3-508I15.9,upstream_gene_variant,,ENST00000412067,;RP3-508I15.9,upstream_gene_variant,,ENST00000444381,;RP3-508I15.9,upstream_gene_variant,,ENST00000431924,;TOMM22,upstream_gene_variant,,ENST00000492561,;	62	151	117	SUCCESS
CHADL	150356	.	GRCh37	22	41634371	41634371	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	27	0	ENST00000216241.9:c.705G>A	p.Leu235=	p.L235=	ENST00000216241	NM_138481.1	235	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46715.1	705	RADIA|MUTECT|VARSCANS	.	AGCTCCAGACG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF24,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000216241	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000216241	Transcript	.	.	ENSG00000100399	25165	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHADL_HUMAN	CHADL	HGNC	.	.	UPI00001C2057	SNV	CHADL,synonymous_variant,p.%3D,ENST00000417999,;CHADL,synonymous_variant,p.%3D,ENST00000216241,;CHADL,intron_variant,,ENST00000455425,;	758	27	34	SUCCESS
FLJ27365	0	.	GRCh37	22	46501584	46501584	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	79	0	ENST00000360737.3:c.150-3563A>C		p.*50*	ENST00000360737				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAATGCTG	NONE	.	.	.	.	.	ENSP00000353966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360737	Transcript	.	.	ENSG00000197182	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FLJ27365	Uniprot_gn	Q6ZNQ0_HUMAN,B1AKH8_HUMAN	.	UPI00001C11DA	SNV	FLJ27365,missense_variant,p.Asn168Thr,ENST00000381051,;FLJ27365,intron_variant,,ENST00000360737,;FLJ27365,intron_variant,,ENST00000435439,;	.	79	71	SUCCESS
TBC1D8	11138	.	GRCh37	2	101666875	101666875	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	58	0	ENST00000376840.4:c.815A>C	p.Gln272Pro	p.Q272P	ENST00000376840		272	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS46375.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCTGGCTC	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218	.	.	ENSP00000366036	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000376840	Transcript	.	.	ENSG00000204634	17791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	tolerated(0.08)	.	TBCD8_HUMAN	TBC1D8	HGNC	.	.	UPI00015ADD19	SNV	TBC1D8,missense_variant,p.Gln272Pro,ENST00000376840,;TBC1D8,missense_variant,p.Gln287Pro,ENST00000409318,;	815	58	62	SUCCESS
IL1R1	3554	.	GRCh37	2	102789169	102789169	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	31	162	0	ENST00000410023.1:c.862A>G	p.Arg288Gly	p.R288G	ENST00000410023		288	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS2055.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAGAAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF19,hmmpanther:PTHR11890,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR01538	.	.	ENSP00000386380	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000410023	Transcript	.	.	ENSG00000115594	5993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.55)	.	IL1R1_HUMAN	IL1R1	HGNC	C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN	.	UPI0000034759	SNV	IL1R1,missense_variant,p.Arg288Gly,ENST00000409288,;IL1R1,missense_variant,p.Arg288Gly,ENST00000424272,;IL1R1,missense_variant,p.Arg288Gly,ENST00000409329,;IL1R1,missense_variant,p.Arg288Gly,ENST00000409929,;IL1R1,missense_variant,p.Arg288Gly,ENST00000233946,;IL1R1,missense_variant,p.Arg288Gly,ENST00000410023,;IL1R1,missense_variant,p.Arg144Gly,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	1180	162	197	SUCCESS
CCDC138	165055	.	GRCh37	2	109408129	109408129	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	88	0	ENST00000295124.4:c.267-2A>T		p.X89_splice	ENST00000295124	NM_144978.1	89		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2080.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAAGCCTA	NONE	.	.	.	.	.	ENSP00000295124	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295124	Transcript	.	.	ENSG00000163006	26531	.	.	HIGH	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC138_HUMAN	CCDC138	HGNC	.	.	UPI000006E2CB	SNV	CCDC138,splice_acceptor_variant,,ENST00000295124,;CCDC138,splice_acceptor_variant,,ENST00000412964,;CCDC138,upstream_gene_variant,,ENST00000456512,;CCDC138,intron_variant,,ENST00000470608,;CCDC138,splice_region_variant,,ENST00000447782,;CCDC138,3_prime_UTR_variant,,ENST00000409529,;	.	88	80	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125204373	125204373	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	48	152	0	ENST00000431078.1:c.777C>G	p.Thr259=	p.T259=	ENST00000431078	NM_130773.3	259	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS46401.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCCTGGG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,synonymous_variant,p.%3D,ENST00000431078,;	1141	152	142	SUCCESS
CYP27C1	339761	.	GRCh37	2	127960995	127960995	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	89	0	ENST00000335247.7:c.131A>G	p.Glu44Gly	p.E44G	ENST00000335247	NM_001001665.3	44	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS33285.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTTTCTCCA	NONE	.	.	hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF9,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000334128	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000335247	Transcript	.	.	ENSG00000186684	33480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	tolerated(0.34)	.	C27C1_HUMAN	CYP27C1	HGNC	.	.	UPI00001995F8	SNV	CYP27C1,missense_variant,p.Glu44Gly,ENST00000409327,;CYP27C1,missense_variant,p.Glu44Gly,ENST00000335247,;	262	89	87	SUCCESS
LIMS2	55679	.	GRCh37	2	128412026	128412026	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371008915	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	70	194	0	ENST00000355119.4:c.331G>T	p.Asp111Tyr	p.D111Y	ENST00000355119	NM_001161403.1	111	Gac/Tac	0	G:0	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2147.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCAGCCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24210,hmmpanther:PTHR24210:SF10,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,PIRSF_domain:PIRSF038003,Superfamily_domains:SSF57716	.	G:0.0001	ENSP00000326888	.	4/10	.	.	.	.	.	.	.	.	rs371008915	4/10	PASS	ENST00000324938	Transcript	.	.	ENSG00000072163	16084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.805)	.	deleterious(0)	.	LIMS2_HUMAN	LIMS2	HGNC	Q9H058_HUMAN,Q9BV95_HUMAN,Q7Z4I5_HUMAN,A0PJ44_HUMAN	.	UPI00001B5BF3	SNV	LIMS2,missense_variant,p.Asp106Tyr,ENST00000409455,;LIMS2,missense_variant,p.Asp111Tyr,ENST00000355119,;LIMS2,missense_variant,p.Asp106Tyr,ENST00000410011,;LIMS2,missense_variant,p.Asp135Tyr,ENST00000324938,;LIMS2,missense_variant,p.Asp133Tyr,ENST00000545738,;LIMS2,missense_variant,p.Asp106Tyr,ENST00000409808,;LIMS2,upstream_gene_variant,,ENST00000409254,;GPR17,downstream_gene_variant,,ENST00000272644,;GPR17,downstream_gene_variant,,ENST00000423019,;GPR17,downstream_gene_variant,,ENST00000393018,;GPR17,downstream_gene_variant,,ENST00000544369,;GPR17,downstream_gene_variant,,ENST00000496086,;GPR17,downstream_gene_variant,,ENST00000486700,;LIMS2,non_coding_transcript_exon_variant,,ENST00000476932,;LIMS2,non_coding_transcript_exon_variant,,ENST00000466410,;LIMS2,non_coding_transcript_exon_variant,,ENST00000469300,;LIMS2,upstream_gene_variant,,ENST00000413578,;	561	194	180	SUCCESS
TMEM163	81615	.	GRCh37	2	135308172	135308172	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	74	0	ENST00000281924.6:c.427G>T	p.Ala143Ser	p.A143S	ENST00000281924	NM_030923.4	143	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2172.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCCGCGT	NONE	.	.	Superfamily_domains:0054606,Gene3D:3h90A01,hmmpanther:PTHR31937:SF2,hmmpanther:PTHR31937	.	.	ENSP00000281924	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000281924	Transcript	.	.	ENSG00000152128	25380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	tolerated(0.16)	.	TM163_HUMAN	TMEM163	HGNC	.	.	UPI000007217C	SNV	TMEM163,missense_variant,p.Ala143Ser,ENST00000281924,;	492	74	92	SUCCESS
ZEB2	9839	.	GRCh37	2	145156008	145156008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	40	143	0	ENST00000409487.3:c.2746A>T	p.Ser916Cys	p.S916C	ENST00000409487		916	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2186.1	2746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACTGGTCT	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0.01)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Ser892Cys,ENST00000539609,;ZEB2,missense_variant,p.Ser916Cys,ENST00000409487,;ZEB2,missense_variant,p.Ser916Cys,ENST00000303660,;ZEB2,missense_variant,p.Ser916Cys,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;	3931	143	172	SUCCESS
KIF5C	3800	.	GRCh37	2	149633278	149633278	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747945685	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	77	258	0	ENST00000435030.1:c.92C>A	p.Pro31His	p.P31H	ENST00000435030		31	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	.	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCCCAAAT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000393379	.	1/26	.	.	.	.	.	.	.	.	rs747945685	1/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	deleterious(0.03)	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,missense_variant,p.Pro31His,ENST00000435030,;AC105402.4,intron_variant,,ENST00000601658,;AC105402.4,downstream_gene_variant,,ENST00000446781,;AC105402.3,upstream_gene_variant,,ENST00000413336,;	460	258	261	SUCCESS
KIF5C	3800	.	GRCh37	2	149633279	149633279	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	183	78	256	0	ENST00000435030.1:c.93C>G	p.Pro31=	p.P31=	ENST00000435030		31	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	.	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCCAAATT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000393379	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,synonymous_variant,p.%3D,ENST00000435030,;AC105402.4,intron_variant,,ENST00000601658,;AC105402.4,downstream_gene_variant,,ENST00000446781,;AC105402.3,upstream_gene_variant,,ENST00000413336,;	461	256	262	SUCCESS
B3GALT1	8708	.	GRCh37	2	168725708	168725708	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	38	176	0	ENST00000392690.3:c.159A>T	p.Ile53=	p.I53=	ENST00000392690		53	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS2227.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATAAGAAC	NONE	.	.	hmmpanther:PTHR11214:SF20,hmmpanther:PTHR11214	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,synonymous_variant,p.%3D,ENST00000305861,;B3GALT1,synonymous_variant,p.%3D,ENST00000392690,;AC016723.4,intron_variant,,ENST00000430546,;AC016723.4,intron_variant,,ENST00000436982,;	251	177	187	SUCCESS
ERICH2	285141	.	GRCh37	2	171641153	171641153	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	13	153	0	ENST00000409885.1:c.29-3T>C		p.X10_splice	ENST00000409885		10		0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUSE|VARSCANS	.	TCTTTTAGGTG	NONE	.	.	.	.	.	ENSP00000387298	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409885	Transcript	.	.	ENSG00000204334	44395	.	.	LOW	1/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERIC2_HUMAN	ERICH2	HGNC	.	.	UPI000015D5DF	SNV	ERICH2,splice_region_variant,,ENST00000409885,;Y_RNA,downstream_gene_variant,,ENST00000410577,;	.	153	160	SUCCESS
CIR1	9541	.	GRCh37	2	175213317	175213317	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	13	73	0	ENST00000342016.3:c.1261A>T	p.Ser421Cys	p.S421C	ENST00000342016	NM_004882.3	421	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2256.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGTCAT	NONE	.	.	hmmpanther:PTHR13151	.	.	ENSP00000339723	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000342016	Transcript	.	.	ENSG00000138433	24217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious_low_confidence(0)	.	CIR1_HUMAN	CIR1	HGNC	.	.	UPI000000DB2A	SNV	CIR1,missense_variant,p.Ser421Cys,ENST00000342016,;CIR1,3_prime_UTR_variant,,ENST00000362053,;CIR1,downstream_gene_variant,,ENST00000464393,;	1354	73	89	SUCCESS
HOXD12	3238	.	GRCh37	2	176965409	176965409	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	261	48	293	0	ENST00000406506.2:c.734A>T	p.Gln245Leu	p.Q245L	ENST00000406506		245	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46456.1	734	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAAGTCA	NONE	.	.	Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF40,PROSITE_profiles:PS50071	.	.	ENSP00000385586	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000406506	Transcript	.	.	ENSG00000170178	5135	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	HXD12_HUMAN	HOXD12	HGNC	.	.	UPI0000EE2EA3	SNV	HOXD12,missense_variant,p.Gln245Leu,ENST00000406506,;HOXD12,3_prime_UTR_variant,,ENST00000404162,;HOXD13,downstream_gene_variant,,ENST00000392539,;HOXD11,upstream_gene_variant,,ENST00000498438,;	806	293	309	SUCCESS
TTN	7273	.	GRCh37	2	179424917	179424917	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	44	141	0	ENST00000591111.1:c.81019C>A	p.Pro27007Thr	p.P27007T	ENST00000591111		27007	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59435.1	85942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGATCTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro19708Thr,ENST00000359218,;TTN,missense_variant,p.Pro27007Thr,ENST00000591111,;TTN,missense_variant,p.Pro28648Thr,ENST00000589042,;TTN,missense_variant,p.Pro19775Thr,ENST00000342175,;TTN,missense_variant,p.Pro26080Thr,ENST00000342992,;TTN,missense_variant,p.Pro19583Thr,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	86167	141	151	SUCCESS
ZSWIM2	151112	.	GRCh37	2	187713768	187713768	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	43	123	0	ENST00000295131.2:c.90C>G	p.Ser30Arg	p.S30R	ENST00000295131	NM_182521.2	30	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS33348.1	90	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATGCTGCT	NONE	.	.	hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0	.	.	ENSP00000295131	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000295131	Transcript	.	.	ENSG00000163012	30990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	ZSWM2_HUMAN	ZSWIM2	HGNC	.	.	UPI000013E20D	SNV	ZSWIM2,missense_variant,p.Ser30Arg,ENST00000295131,;ZSWIM2,missense_variant,p.Ser30Arg,ENST00000419862,;	130	123	151	SUCCESS
TMEFF2	23671	.	GRCh37	2	192862989	192862989	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	43	0	ENST00000272771.5:c.744A>T		p.X248_splice	ENST00000272771	NM_016192.2	248	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2314.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCTGCATA	NONE	.	.	hmmpanther:PTHR10574	.	.	ENSP00000272771	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000272771	Transcript	.	.	ENSG00000144339	11867	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEFF2_HUMAN	TMEFF2	HGNC	.	.	UPI0000048F19	SNV	TMEFF2,synonymous_variant,p.%3D,ENST00000272771,;TMEFF2,synonymous_variant,p.%3D,ENST00000392314,;AC098617.1,intron_variant,,ENST00000424116,;AC098617.1,intron_variant,,ENST00000428980,;TMEFF2,splice_region_variant,,ENST00000487771,;	1929	43	49	SUCCESS
NRP2	8828	.	GRCh37	2	206641001	206641001	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	49	0	ENST00000360409.3:c.2440+9459A>T		p.*814*	ENST00000360409	NM_003872.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2364.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGTGGA	NONE	.	.	.	.	.	ENSP00000353582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360409	Transcript	.	.	ENSG00000118257	8005	.	.	MODIFIER	15/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRP2_HUMAN	NRP2	HGNC	C9JH98_HUMAN	.	UPI000014020F	SNV	NRP2,synonymous_variant,p.%3D,ENST00000357118,;NRP2,synonymous_variant,p.%3D,ENST00000272849,;NRP2,intron_variant,,ENST00000360409,;NRP2,intron_variant,,ENST00000540178,;NRP2,intron_variant,,ENST00000357785,;NRP2,intron_variant,,ENST00000540841,;NRP2,intron_variant,,ENST00000412873,;NRP2,intron_variant,,ENST00000467850,;AC007362.1,upstream_gene_variant,,ENST00000315950,;	.	49	50	SUCCESS
EEF1B2	1933	.	GRCh37	2	207024537	207024537	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	51	0	ENST00000236957.5:c.-22+129C>G		p.*8*	ENST00000236957	NM_021121.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2367.1	.	MUTECT|MUSE	.	AAGTACTTTGA	NONE	.	.	.	.	.	ENSP00000376056	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000392222	Transcript	.	.	ENSG00000114942	3208	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EF1B_HUMAN	EEF1B2	HGNC	C9JZW3_HUMAN	.	UPI0000000C68	SNV	EEF1B2,5_prime_UTR_variant,,ENST00000392222,;EEF1B2,intron_variant,,ENST00000445505,;EEF1B2,intron_variant,,ENST00000392221,;EEF1B2,intron_variant,,ENST00000236957,;NDUFS1,upstream_gene_variant,,ENST00000440274,;NDUFS1,upstream_gene_variant,,ENST00000449699,;NDUFS1,upstream_gene_variant,,ENST00000423725,;NDUFS1,upstream_gene_variant,,ENST00000455934,;NDUFS1,upstream_gene_variant,,ENST00000457011,;NDUFS1,upstream_gene_variant,,ENST00000432169,;NDUFS1,upstream_gene_variant,,ENST00000454195,;NDUFS1,upstream_gene_variant,,ENST00000233190,;SNORD51,upstream_gene_variant,,ENST00000384320,;SNORA41,upstream_gene_variant,,ENST00000384675,;EEF1B2,non_coding_transcript_exon_variant,,ENST00000460760,;EEF1B2,intron_variant,,ENST00000429769,;EEF1B2,intron_variant,,ENST00000479587,;EEF1B2,upstream_gene_variant,,ENST00000455150,;EEF1B2,upstream_gene_variant,,ENST00000435123,;EEF1B2,upstream_gene_variant,,ENST00000482103,;EEF1B2,upstream_gene_variant,,ENST00000415904,;NDUFS1,upstream_gene_variant,,ENST00000456284,;	209	51	47	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218925380	218925380	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	rs773721645	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	37	0	ENST00000439871.1:n.1001T>A		p.*334*	ENST00000439871				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACAACAGCAAA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	rs773721645	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,non_coding_transcript_exon_variant,,ENST00000443392,;	1001	37	55	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218925539	218925539	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	64	0	ENST00000439871.1:n.842A>T		p.*281*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTTGCCC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,non_coding_transcript_exon_variant,,ENST00000443392,;	842	64	71	SUCCESS
PTPRN	5798	.	GRCh37	2	220156208	220156208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	36	219	0	ENST00000295718.2:c.2713A>T	p.Ile905Phe	p.I905F	ENST00000295718	NM_002846.3	905	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS2440.1	2713	RADIA|MUTECT|MUSE|VARSCANS	.	GATGATGGGGC	NONE	.	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000295718	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000295718	Transcript	.	.	ENSG00000054356	9676	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PTPRN_HUMAN	PTPRN	HGNC	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN	.	UPI0000132999	SNV	PTPRN,missense_variant,p.Ile108Phe,ENST00000443981,;PTPRN,missense_variant,p.Ile876Phe,ENST00000409251,;PTPRN,missense_variant,p.Ile815Phe,ENST00000423636,;PTPRN,missense_variant,p.Ile905Phe,ENST00000295718,;DNAJB2,downstream_gene_variant,,ENST00000336576,;DNAJB2,downstream_gene_variant,,ENST00000392086,;MIR153-1,downstream_gene_variant,,ENST00000384914,;PTPRN,non_coding_transcript_exon_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,non_coding_transcript_exon_variant,,ENST00000460801,;DNAJB2,downstream_gene_variant,,ENST00000477917,;DNAJB2,downstream_gene_variant,,ENST00000472019,;	2954	219	224	SUCCESS
ACSL3	2181	.	GRCh37	2	223795465	223795465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	47	141	0	ENST00000357430.3:c.1667G>T	p.Gly556Val	p.G556V	ENST00000357430	NM_004457.3	556	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2455.1	1667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGACAAA	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF157,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000350012	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000357430	Transcript	.	.	ENSG00000123983	3570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACSL3_HUMAN	ACSL3	HGNC	Q6PIM8_HUMAN,F5H062_HUMAN,F5GWH2_HUMAN,C9JC11_HUMAN,B3KMA6_HUMAN	.	UPI0000074742	SNV	ACSL3,missense_variant,p.Gly556Val,ENST00000392066,;ACSL3,missense_variant,p.Gly556Val,ENST00000357430,;ACSL3,missense_variant,p.Gly57Val,ENST00000407441,;ACSL3,downstream_gene_variant,,ENST00000421680,;AC013476.1,downstream_gene_variant,,ENST00000582868,;ACSL3,non_coding_transcript_exon_variant,,ENST00000474422,;ACSL3,upstream_gene_variant,,ENST00000495541,;	2198	141	143	SUCCESS
SP140	11262	.	GRCh37	2	231109739	231109739	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	61	0	ENST00000392045.3:c.608C>T	p.Pro203Leu	p.P203L	ENST00000392045	NM_007237.4	203	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42831.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCCAAAGG	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1	.	.	ENSP00000375899	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000392045	Transcript	.	.	ENSG00000079263	17133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	tolerated(0.26)	.	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	SNV	SP140,missense_variant,p.Pro203Leu,ENST00000343805,;SP140,missense_variant,p.Pro203Leu,ENST00000417495,;SP140,missense_variant,p.Pro203Leu,ENST00000392045,;SP140,missense_variant,p.Pro203Leu,ENST00000486687,;SP140,missense_variant,p.Pro183Leu,ENST00000350136,;SP140,missense_variant,p.Pro203Leu,ENST00000420434,;	722	61	66	SUCCESS
C2orf82	0	.	GRCh37	2	233735018	233735018	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs201190318	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	72	0	ENST00000409230.1:c.-34G>T		p.*12*	ENST00000409230				0	A:0.0002	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS2499.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCGTCCCG	NONE	byFrequency|byCluster|by1000G	.	.	A:0.002	A:0	ENSP00000386804	A:0	2/4	.	.	.	.	.	.	.	.	rs201190318	2/4	PASS	ENST00000409230	Transcript	.	A:0.0004	ENSG00000182600	33763	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CB082_HUMAN	C2orf82	HGNC	.	.	UPI0000048F0E	SNV	C2orf82,5_prime_UTR_variant,,ENST00000409230,;C2orf82,5_prime_UTR_variant,,ENST00000331342,;C2orf82,5_prime_UTR_variant,,ENST00000409533,;C2orf82,5_prime_UTR_variant,,ENST00000448993,;	214	72	93	SUCCESS
TRPM8	79054	.	GRCh37	2	234854632	234854632	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200066478	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	12	112	0	ENST00000324695.4:c.832C>T	p.Arg278Trp	p.R278W	ENST00000324695	NM_024080.4	278	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33407.1	832	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCGGAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	.	.	ENSP00000323926	.	7/26	.	.	.	.	.	.	.	.	rs200066478	7/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,missense_variant,p.Arg278Trp,ENST00000324695,;TRPM8,5_prime_UTR_variant,,ENST00000433712,;TRPM8,downstream_gene_variant,,ENST00000409625,;TRPM8,downstream_gene_variant,,ENST00000355722,;AC005538.5,downstream_gene_variant,,ENST00000455991,;TRPM8,missense_variant,p.Arg278Trp,ENST00000444298,;	872	112	110	SUCCESS
SH3BP4	23677	.	GRCh37	2	235949765	235949765	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	12	122	1	ENST00000344528.4:c.352A>G	p.Thr118Ala	p.T118A	ENST00000344528		118	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2513.1	352	MUTECT|VARSCANS	.	ACTCAACACTG	NONE	.	.	hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603	.	.	ENSP00000386862	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000409212	Transcript	.	.	ENSG00000130147	10826	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.23)	.	SH3B4_HUMAN	SH3BP4	HGNC	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN	.	UPI000006DA47	SNV	SH3BP4,missense_variant,p.Thr118Ala,ENST00000409212,;SH3BP4,missense_variant,p.Thr118Ala,ENST00000344528,;SH3BP4,missense_variant,p.Thr118Ala,ENST00000392011,;SH3BP4,missense_variant,p.Thr118Ala,ENST00000416021,;SH3BP4,missense_variant,p.Thr118Ala,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;	859	123	146	SUCCESS
NDUFA10	4705	.	GRCh37	2	240957300	240957300	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	60	0	ENST00000252711.2:c.547+670G>T		p.*183*	ENST00000252711	NM_004544.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2531.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCCACTG	NONE	.	.	.	.	.	ENSP00000252711	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000252711	Transcript	.	.	ENSG00000130414	7684	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUAA_HUMAN	NDUFA10	HGNC	Q53SW4_HUMAN,Q53QE8_HUMAN	.	UPI000013090A	SNV	NDUFA10,missense_variant,p.Gly200Val,ENST00000307300,;NDUFA10,intron_variant,,ENST00000443626,;NDUFA10,intron_variant,,ENST00000404554,;NDUFA10,intron_variant,,ENST00000252711,;NDUFA10,downstream_gene_variant,,ENST00000407129,;NDUFA10,intron_variant,,ENST00000414580,;NDUFA10,intron_variant,,ENST00000485344,;NDUFA10,downstream_gene_variant,,ENST00000497536,;	.	60	59	SUCCESS
FAM179A	0	.	GRCh37	2	29226472	29226472	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs559495685	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	32	231	0	ENST00000379558.4:c.754C>T	p.Arg252Cys	p.R252C	ENST00000379558	NM_199280.2	252	Cgt/Tgt	0	.	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS1769.2	754	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGTGTG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567	T:0	.	ENSP00000368876	T:0	6/20	.	.	.	.	.	.	.	.	rs559495685	6/20	PASS	ENST00000379558	Transcript	.	T:0.0002	ENSG00000189350	33715	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	T:0	tolerated(0.13)	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,missense_variant,p.Arg252Cys,ENST00000403861,;FAM179A,missense_variant,p.Arg252Cys,ENST00000379558,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;	1105	231	255	SUCCESS
SOX11	6664	.	GRCh37	2	5833868	5833868	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1227439657	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	50	0	ENST00000322002.3:c.1015G>A	p.Val339Met	p.V339M	ENST00000322002	NM_003108.3	339	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1654.1	1015	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGTGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10270:SF113,hmmpanther:PTHR10270,PIRSF_domain:PIRSF038098	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.295)	.	tolerated(0.17)	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,missense_variant,p.Val339Met,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	1070	50	58	SUCCESS
REL	5966	.	GRCh37	2	61147765	61147765	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	378	32	352	1	ENST00000295025.8:c.1075T>C	p.Tyr359His	p.Y359H	ENST00000295025	NM_002908.2	359	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS1864.1	1075	MUTECT|MUSE	.	GAAGATACTTC	NONE	.	.	hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF4	.	.	ENSP00000295025	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000295025	Transcript	.	.	ENSG00000162924	9954	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.646)	.	deleterious(0.05)	.	REL_HUMAN	REL	HGNC	.	.	UPI000013367B	SNV	REL,missense_variant,p.Tyr327His,ENST00000394479,;REL,missense_variant,p.Tyr359His,ENST00000295025,;	1395	353	411	SUCCESS
XPO1	7514	.	GRCh37	2	61711207	61711207	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	36	121	0	ENST00000401558.2:c.2542T>G	p.Phe848Val	p.F848V	ENST00000401558	NM_003400.3	848	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS33205.1	2542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAGTTCG	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08767,Gene3D:1.25.10.10,SMART_domains:SM01102,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Phe848Val,ENST00000404992,;XPO1,missense_variant,p.Phe848Val,ENST00000401558,;XPO1,missense_variant,p.Phe848Val,ENST00000406957,;RP11-355B11.2,non_coding_transcript_exon_variant,,ENST00000578974,;RP11-355B11.2,downstream_gene_variant,,ENST00000603652,;RP11-355B11.2,downstream_gene_variant,,ENST00000603028,;RP11-355B11.2,downstream_gene_variant,,ENST00000603199,;RP11-355B11.2,downstream_gene_variant,,ENST00000605437,;XPO1,downstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000492182,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,non_coding_transcript_exon_variant,,ENST00000461407,;	3270	121	160	SUCCESS
CCT7	10574	.	GRCh37	2	73477551	73477551	+	synonymous_variant	Silent	SNP	C	C	A	rs750460509	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	100	0	ENST00000258091.5:c.1188C>A	p.Val396=	p.V396=	ENST00000258091	NM_006429.3	396	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46336.1	1188	MUTECT|MUSE	.	ATCGTCAGGAG	NONE	byFrequency	.	Superfamily_domains:SSF54849,Pfam_domain:PF00118,Gene3D:3.30.260.10,TIGRFAM_domain:TIGR02345,hmmpanther:PTHR11353:SF22,hmmpanther:PTHR11353	.	.	ENSP00000258091	.	10/12	.	.	.	.	.	.	.	.	rs750460509	10/12	PASS	ENST00000258091	Transcript	.	.	ENSG00000135624	1622	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCPH_HUMAN	CCT7	HGNC	F8WAM2_HUMAN	.	UPI0000136B06	SNV	CCT7,synonymous_variant,p.%3D,ENST00000540468,;CCT7,synonymous_variant,p.%3D,ENST00000258091,;CCT7,synonymous_variant,p.%3D,ENST00000538797,;CCT7,synonymous_variant,p.%3D,ENST00000398422,;CCT7,synonymous_variant,p.%3D,ENST00000539919,;CCT7,synonymous_variant,p.%3D,ENST00000537131,;FBXO41,downstream_gene_variant,,ENST00000295133,;FBXO41,downstream_gene_variant,,ENST00000521871,;CCT7,downstream_gene_variant,,ENST00000473786,;CCT7,downstream_gene_variant,,ENST00000488856,;CCT7,downstream_gene_variant,,ENST00000409924,;	1329	100	93	SUCCESS
SLC4A5	57835	.	GRCh37	2	74475529	74475529	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	37	90	0	ENST00000346834.4:c.1738A>C	p.Ser580Arg	p.S580R	ENST00000346834		580	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS1936.1	1738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCTGCTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834	.	.	ENSP00000366861	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000377634	Transcript	.	.	ENSG00000188687	18168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S4A5_HUMAN	SLC4A5	HGNC	Q9UDR3_HUMAN,Q53S35_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN	.	UPI000013C97B	SNV	SLC4A5,missense_variant,p.Ser580Arg,ENST00000377632,;SLC4A5,missense_variant,p.Ser580Arg,ENST00000425249,;SLC4A5,missense_variant,p.Ser516Arg,ENST00000359484,;SLC4A5,missense_variant,p.Ser516Arg,ENST00000358683,;SLC4A5,missense_variant,p.Ser580Arg,ENST00000423644,;SLC4A5,missense_variant,p.Ser580Arg,ENST00000394019,;SLC4A5,missense_variant,p.Ser580Arg,ENST00000346834,;SLC4A5,missense_variant,p.Ser580Arg,ENST00000377634,;SLC4A5,missense_variant,p.Ser580Arg,ENST00000357822,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000479776,;	2138	90	117	SUCCESS
PROM2	150696	.	GRCh37	2	95943753	95943753	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	49	0	ENST00000317620.9:c.1050+1G>T		p.X350_splice	ENST00000317620	NM_001165978.1	350		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2012.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGTGAGA	NONE	.	.	.	.	.	ENSP00000318270	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000317620	Transcript	.	.	ENSG00000155066	20685	.	.	HIGH	8/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,splice_donor_variant,,ENST00000317620,;PROM2,splice_donor_variant,,ENST00000542147,;PROM2,splice_donor_variant,,ENST00000403131,;PROM2,splice_donor_variant,,ENST00000317668,;PROM2,downstream_gene_variant,,ENST00000477767,;PROM2,upstream_gene_variant,,ENST00000497110,;PROM2,downstream_gene_variant,,ENST00000463580,;PROM2,splice_donor_variant,,ENST00000478295,;PROM2,splice_donor_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	.	49	54	SUCCESS
CHST13	166012	.	GRCh37	3	126260740	126260740	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	21	87	0	ENST00000319340.2:c.345G>A	p.Val115=	p.V115=	ENST00000319340	NM_152889.2	115	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3039.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGGCCTG	NONE	.	.	hmmpanther:PTHR12137:SF31,hmmpanther:PTHR12137,Pfam_domain:PF03567	.	.	ENSP00000317404	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319340	Transcript	.	.	ENSG00000180767	21755	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTD_HUMAN	CHST13	HGNC	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN	.	UPI00000492E5	SNV	CHST13,synonymous_variant,p.%3D,ENST00000319340,;C3orf22,intron_variant,,ENST00000505070,;	395	87	89	SUCCESS
NUP210	23225	.	GRCh37	3	13376978	13376978	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	22	99	0	ENST00000254508.5:c.3819A>G	p.Glu1273=	p.E1273=	ENST00000254508	NM_024923.3	1273	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS33704.1	3819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTTCTCT	BUFFER|p.D1276N|c.3826G>A|3	.	.	hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	.	.	ENSP00000254508	.	28/40	.	.	.	.	.	.	.	.	.	28/40	PASS	ENST00000254508	Transcript	.	.	ENSG00000132182	30052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO210_HUMAN	NUP210	HGNC	.	.	UPI00001600AF	SNV	NUP210,synonymous_variant,p.%3D,ENST00000254508,;NUP210,downstream_gene_variant,,ENST00000485755,;	3902	99	109	SUCCESS
FBLN2	2199	.	GRCh37	3	13659731	13659731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	92	0	ENST00000295760.7:c.1885T>A	p.Cys629Ser	p.C629S	ENST00000295760	NM_001998.2	629	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS46761.1	1885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACTGTGCC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,Superfamily_domains:SSF57184	.	.	ENSP00000384169	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	SNV	FBLN2,missense_variant,p.Cys629Ser,ENST00000295760,;FBLN2,missense_variant,p.Cys629Ser,ENST00000492059,;FBLN2,missense_variant,p.Cys629Ser,ENST00000404922,;FBLN2,missense_variant,p.Cys655Ser,ENST00000535798,;FBLN2,non_coding_transcript_exon_variant,,ENST00000477845,;	2004	92	75	SUCCESS
KCNAB1	7881	.	GRCh37	3	156009514	156009514	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	34	0	ENST00000490337.1:c.276-129891C>A		p.*92*	ENST00000490337	NM_172160.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3174.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCCCTTG	NONE	.	.	.	.	.	ENSP00000419952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,5_prime_UTR_variant,,ENST00000302490,;KCNAB1,intron_variant,,ENST00000471742,;KCNAB1,intron_variant,,ENST00000490337,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000389636,;KCNAB1,intron_variant,,ENST00000475456,;KCNAB1,upstream_gene_variant,,ENST00000389634,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,intron_variant,,ENST00000478609,;KCNAB1,upstream_gene_variant,,ENST00000489036,;	.	34	26	SUCCESS
KCNAB1	7881	.	GRCh37	3	156009781	156009781	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	23	231	0	ENST00000490337.1:c.276-129624G>A		p.*92*	ENST00000490337	NM_172160.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3174.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCCCCC	NONE	.	.	.	.	.	ENSP00000419952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,missense_variant,p.Ala29Thr,ENST00000389634,;KCNAB1,missense_variant,p.Ala29Thr,ENST00000302490,;KCNAB1,intron_variant,,ENST00000471742,;KCNAB1,intron_variant,,ENST00000490337,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000389636,;KCNAB1,intron_variant,,ENST00000475456,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,missense_variant,p.Ala25Thr,ENST00000489036,;KCNAB1,intron_variant,,ENST00000478609,;	.	231	206	SUCCESS
BTD	686	.	GRCh37	3	15686472	15686472	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs148193489	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	22	118	0	ENST00000303498.5:c.1109A>G	p.Tyr370Cys	p.Y370C	ENST00000303498	NM_000060.2	370	tAc/tGc	0	G:0	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2628.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTACTGTG	NONE	byCluster	.	hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,PIRSF_domain:PIRSF011861	.	G:0.0001	ENSP00000306477	.	4/4	.	.	.	.	.	.	.	.	rs148193489	4/4	PASS	ENST00000303498	Transcript	.	.	ENSG00000169814	1122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.04)	.	BTD_HUMAN	BTD	HGNC	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN	.	UPI000013E8A8	SNV	BTD,missense_variant,p.Tyr350Cys,ENST00000383778,;BTD,missense_variant,p.Tyr372Cys,ENST00000437172,;BTD,missense_variant,p.Tyr370Cys,ENST00000303498,;BTD,missense_variant,p.Tyr372Cys,ENST00000449107,;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;	1218	118	128	SUCCESS
SDHAP2	727956	.	GRCh37	3	195404686	195404686	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	19	183	0	ENST00000455183.1:n.1524A>G		p.*508*	ENST00000455183				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCATAAGAAC	NONE	.	.	.	.	.	.	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000455183	Transcript	.	.	ENSG00000215837	27408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SDHAP2	HGNC	.	.	.	SNV	LINC00969,non_coding_transcript_exon_variant,,ENST00000446521,;LINC00969,non_coding_transcript_exon_variant,,ENST00000445430,;LINC00969,non_coding_transcript_exon_variant,,ENST00000429897,;LINC00969,non_coding_transcript_exon_variant,,ENST00000414625,;LINC00969,non_coding_transcript_exon_variant,,ENST00000600527,;LINC00969,upstream_gene_variant,,ENST00000601648,;LINC00969,downstream_gene_variant,,ENST00000539717,;LINC00969,upstream_gene_variant,,ENST00000602127,;LINC00969,upstream_gene_variant,,ENST00000451982,;SDHAP2,non_coding_transcript_exon_variant,,ENST00000455183,;	1524	183	186	SUCCESS
KCNH8	131096	.	GRCh37	3	19575195	19575195	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	91	0	ENST00000328405.2:c.2928T>C	p.His976=	p.H976=	ENST00000328405	NM_144633.2	976	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS2632.1	2928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCATGAGCA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	.	ENSP00000328813	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,synonymous_variant,p.%3D,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	3194	91	87	SUCCESS
TFRC	7037	.	GRCh37	3	195789505	195789505	+	synonymous_variant	Silent	SNP	C	C	T	rs776990727	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	321	158	503	1	ENST00000360110.4:c.1416G>A	p.Ser472=	p.S472=	ENST00000360110	NM_001128148.1	472	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3312.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGACGAAAG	NONE	byFrequency	.	hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000353224	.	13/19	.	.	.	.	.	.	.	.	rs776990727	13/19	PASS	ENST00000360110	Transcript	.	.	ENSG00000072274	11763	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFR1_HUMAN	TFRC	HGNC	G3V0E5_HUMAN,F5H6B1_HUMAN	.	UPI0000049ADE	SNV	TFRC,synonymous_variant,p.%3D,ENST00000360110,;TFRC,synonymous_variant,p.%3D,ENST00000392396,;TFRC,synonymous_variant,p.%3D,ENST00000420415,;TFRC,synonymous_variant,p.%3D,ENST00000535031,;TFRC,3_prime_UTR_variant,,ENST00000540528,;TFRC,non_coding_transcript_exon_variant,,ENST00000465288,;TFRC,upstream_gene_variant,,ENST00000463356,;TFRC,non_coding_transcript_exon_variant,,ENST00000477148,;TFRC,non_coding_transcript_exon_variant,,ENST00000464368,;TFRC,non_coding_transcript_exon_variant,,ENST00000475593,;TFRC,upstream_gene_variant,,ENST00000482479,;TFRC,downstream_gene_variant,,ENST00000491658,;TFRC,upstream_gene_variant,,ENST00000483983,;	1586	504	479	SUCCESS
DCLK3	85443	.	GRCh37	3	36778744	36778744	+	synonymous_variant	Silent	SNP	G	G	A	rs747503381	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	30	142	0	ENST00000416516.2:c.1407C>T	p.His469=	p.H469=	ENST00000416516	NM_033403.1	469	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS43064.1	1407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCGTGCAT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF138,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000394484	.	2/5	.	.	.	.	.	.	.	.	rs747503381	2/5	PASS	ENST00000416516	Transcript	.	.	ENSG00000163673	19005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCLK3_HUMAN	DCLK3	HGNC	B3KVM3_HUMAN	.	UPI0000E2657D	SNV	DCLK3,synonymous_variant,p.%3D,ENST00000416516,;	1898	142	144	SUCCESS
LRRFIP2	9209	.	GRCh37	3	37133031	37133031	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	89	0	ENST00000336686.4:c.1036-2A>G		p.X346_splice	ENST00000336686		346		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2664.1	.	MUTECT|MUSE|VARSCANS	.	TATCCTGCAGG	NONE	.	.	.	.	.	ENSP00000392217	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421307	Transcript	.	.	ENSG00000093167	6703	.	.	HIGH	18/28	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRF2_HUMAN	LRRFIP2	HGNC	C9JJC9_HUMAN,C9JC17_HUMAN,C9J321_HUMAN	.	UPI0000070DFD	SNV	LRRFIP2,splice_acceptor_variant,,ENST00000421276,;LRRFIP2,splice_acceptor_variant,,ENST00000336686,;LRRFIP2,splice_acceptor_variant,,ENST00000440230,;LRRFIP2,splice_acceptor_variant,,ENST00000421307,;LRRFIP2,splice_acceptor_variant,,ENST00000416425,;LRRFIP2,intron_variant,,ENST00000396428,;LRRFIP2,intron_variant,,ENST00000354379,;Y_RNA,downstream_gene_variant,,ENST00000383918,;LRRFIP2,splice_acceptor_variant,,ENST00000481682,;	.	89	80	SUCCESS
CXCR6	10663	.	GRCh37	3	45988540	45988540	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	75	0	ENST00000304552.4:c.567T>A	p.Thr189=	p.T189=	ENST00000304552	NM_006564.1	189	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2735.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTGTGGT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF66,PROSITE_profiles:PS50262	.	.	ENSP00000395704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000458629	Transcript	.	.	ENSG00000172215	16647	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCR6_HUMAN	CXCR6	HGNC	A0N0N3_HUMAN	.	UPI0000001635	SNV	CXCR6,synonymous_variant,p.%3D,ENST00000304552,;CXCR6,synonymous_variant,p.%3D,ENST00000457814,;CXCR6,synonymous_variant,p.%3D,ENST00000438735,;CXCR6,synonymous_variant,p.%3D,ENST00000458629,;FYCO1,intron_variant,,ENST00000296137,;FYCO1,intron_variant,,ENST00000433878,;FYCO1,intron_variant,,ENST00000438446,;FYCO1,intron_variant,,ENST00000535325,;	2030	75	79	SUCCESS
PRSS45	0	.	GRCh37	3	46783919	46783919	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201730160	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	27	149	0	ENST00000442359.2:c.608A>G	p.Asn203Ser	p.N203S	ENST00000442359	NM_199183.2	203	aAt/aGt	0	C:0	C:0	.	C:0	.	C	N/S	protein_coding	YES	CCDS46815.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATTGCTC	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF47,Superfamily_domains:SSF50494	C:0	C:0.0014	ENSP00000401932	C:0	4/4	.	.	.	.	.	.	.	.	rs201730160	4/4	common_in_exac	ENST00000442359	Transcript	.	C:0.0002	ENSG00000188086	30717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	C:0.001	tolerated(0.63)	.	PRS45_HUMAN	PRSS45	HGNC	.	.	UPI0000F3B8DC	SNV	PRSS45,missense_variant,p.Asn203Ser,ENST00000442359,;PRSS50,intron_variant,,ENST00000460241,;PRSS45,3_prime_UTR_variant,,ENST00000423292,;	608	150	126	SUCCESS
KLHL18	23276	.	GRCh37	3	47378035	47378035	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	40	118	1	ENST00000232766.5:c.909G>T	p.Leu303=	p.L303=	ENST00000232766	NM_025010.4	303	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33749.1	909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGAATGT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF139,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000232766	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000232766	Transcript	.	.	ENSG00000114648	29120	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH18_HUMAN	KLHL18	HGNC	Q6PJF0_HUMAN,C9J4G4_HUMAN,B4DHW4_HUMAN	.	UPI00004703A5	SNV	KLHL18,synonymous_variant,p.%3D,ENST00000232766,;KLHL18,synonymous_variant,p.%3D,ENST00000455924,;KLHL18,3_prime_UTR_variant,,ENST00000442272,;KLHL18,non_coding_transcript_exon_variant,,ENST00000461084,;	929	119	115	SUCCESS
MST1R	4486	.	GRCh37	3	49928638	49928638	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	53	0	ENST00000296474.3:c.3636G>T	p.Arg1212=	p.R1212=	ENST00000296474	NM_002447.2	1212	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2807.1	3636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTCCGCGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000617,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000296474	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,synonymous_variant,p.%3D,ENST00000344206,;MST1R,synonymous_variant,p.%3D,ENST00000440292,;MST1R,synonymous_variant,p.%3D,ENST00000434765,;MST1R,synonymous_variant,p.%3D,ENST00000296474,;MST1R,3_prime_UTR_variant,,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000467110,;MST1R,downstream_gene_variant,,ENST00000490053,;	3664	53	48	SUCCESS
DOCK3	1795	.	GRCh37	3	51266174	51266174	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	125	0	ENST00000266037.9:c.1730A>G	p.Asn577Ser	p.N577S	ENST00000266037	NM_004947.4	577	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46835.1	1730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTAATATTC	NONE	.	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Pfam_domain:PF14429	.	.	ENSP00000266037	.	18/53	.	.	.	.	.	.	.	.	.	18/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.18)	.	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,missense_variant,p.Asn577Ser,ENST00000266037,;	1753	125	127	SUCCESS
GRM2	2912	.	GRCh37	3	51746843	51746843	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	71	0	ENST00000395052.3:c.805T>A	p.Phe269Ile	p.F269I	ENST00000395052	NM_000839.3	269	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS2834.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGTTCACC	NONE	.	.	hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000378492	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000395052	Transcript	.	.	ENSG00000164082	4594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRM2_HUMAN	GRM2	HGNC	C9JD41_HUMAN	.	UPI000013E346	SNV	GRM2,missense_variant,p.Phe269Ile,ENST00000442933,;GRM2,missense_variant,p.Phe269Ile,ENST00000395052,;GRM2,downstream_gene_variant,,ENST00000419928,;GRM2,non_coding_transcript_exon_variant,,ENST00000496661,;GRM2,intron_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,missense_variant,p.Phe269Ile,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	1039	71	70	SUCCESS
GRM7	2917	.	GRCh37	3	6903010	6903010	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	29	0	ENST00000357716.4:c.-66G>A		p.*22*	ENST00000357716	NM_000844.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43042.1	.	MUTECT|MUSE|VARSCANS	.	GGCCCGGACCT	NONE	.	.	.	.	.	ENSP00000350348	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,5_prime_UTR_variant,,ENST00000486284,;GRM7,5_prime_UTR_variant,,ENST00000389336,;GRM7,5_prime_UTR_variant,,ENST00000357716,;GRM7,intron_variant,,ENST00000448328,;GRM7,upstream_gene_variant,,ENST00000402647,;GRM7,upstream_gene_variant,,ENST00000403881,;GRM7,5_prime_UTR_variant,,ENST00000389335,;GRM7,5_prime_UTR_variant,,ENST00000467425,;GRM7,5_prime_UTR_variant,,ENST00000440923,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	209	29	19	SUCCESS
OR5H1	26341	.	GRCh37	3	97852435	97852435	+	synonymous_variant	Silent	SNP	A	A	T	rs376802329	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	63	0	ENST00000354565.2:c.894A>T	p.Thr298=	p.T298=	ENST00000354565	NM_001005338.1	298	acA/acT	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS33797.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACAGTTTC	NONE	byCluster	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135	.	T:0.0001	ENSP00000346575	.	1/1	.	.	.	.	.	.	.	.	rs376802329	1/1	PASS	ENST00000354565	Transcript	.	.	ENSG00000231192	8346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5H1_HUMAN	OR5H1	HGNC	.	.	UPI0000197652	SNV	OR5H1,synonymous_variant,p.%3D,ENST00000354565,;RP11-343D2.11,intron_variant,,ENST00000508964,;	894	63	64	SUCCESS
CENPE	1062	.	GRCh37	4	104066278	104066278	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	52	0	ENST00000265148.3:c.4786A>T	p.Lys1596Ter	p.K1596*	ENST00000265148	NM_001813.2	1596	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS34042.1	4786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTCATTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	32/49	.	.	.	.	.	.	.	.	.	32/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,stop_gained,p.Lys1571Ter,ENST00000380026,;CENPE,stop_gained,p.Lys1596Ter,ENST00000265148,;CENPE,downstream_gene_variant,,ENST00000515478,;	4876	52	53	SUCCESS
TET2	54790	.	GRCh37	4	106157691	106157691	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	57	247	0	ENST00000380013.4:c.2592C>T	p.His864=	p.H864=	ENST00000380013	NM_001127208.2	864	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS47120.1	2592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACATGCA	BUFFER|p.H863fs*9|c.2586_2587insG|3,BUFFER|p.Q866*|c.2596C>T|3,BUFFER|p.P869fs*4|c.2604_2604delT|3	.	.	hmmpanther:PTHR23358:SF3,hmmpanther:PTHR23358	.	.	ENSP00000442788	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,synonymous_variant,p.%3D,ENST00000305737,;TET2,synonymous_variant,p.%3D,ENST00000413648,;TET2,synonymous_variant,p.%3D,ENST00000540549,;TET2,synonymous_variant,p.%3D,ENST00000380013,;TET2,synonymous_variant,p.%3D,ENST00000545826,;TET2,synonymous_variant,p.%3D,ENST00000513237,;TET2,synonymous_variant,p.%3D,ENST00000394764,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,synonymous_variant,p.%3D,ENST00000265149,;	3452	247	240	SUCCESS
BBS12	166379	.	GRCh37	4	123663523	123663523	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1450190654	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	33	150	0	ENST00000314218.3:c.476C>T	p.Pro159Leu	p.P159L	ENST00000314218	NM_152618.2	159	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3728.1	476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCCTTTTC	NONE	.	.	hmmpanther:PTHR11353:SF30,hmmpanther:PTHR11353	.	.	ENSP00000438273	.	3/3	.	.	.	.	.	.	.	.	CM070034	3/3	PASS	ENST00000542236	Transcript	1	.	ENSG00000181004	26648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	BBS12_HUMAN	BBS12	HGNC	C9J8H7_HUMAN	.	UPI0000231CAC	SNV	BBS12,missense_variant,p.Pro159Leu,ENST00000542236,;BBS12,missense_variant,p.Pro159Leu,ENST00000314218,;BBS12,missense_variant,p.Pro159Leu,ENST00000433287,;	857	150	150	SUCCESS
ZNF827	152485	.	GRCh37	4	146770559	146770559	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	114	0	ENST00000508784.1:c.2136A>G	p.Pro712=	p.P712=	ENST00000508784		712	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34072.1	2136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTGGCAT	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,synonymous_variant,p.%3D,ENST00000508784,;ZNF827,synonymous_variant,p.%3D,ENST00000379448,;ZNF827,synonymous_variant,p.%3D,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000511534,;ZNF827,upstream_gene_variant,,ENST00000509940,;	2200	114	136	SUCCESS
ZNF827	152485	.	GRCh37	4	146770637	146770637	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	79	0	ENST00000508784.1:c.2058C>G	p.Val686=	p.V686=	ENST00000508784		686	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS34072.1	2058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGAGACATG	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,synonymous_variant,p.%3D,ENST00000508784,;ZNF827,synonymous_variant,p.%3D,ENST00000379448,;ZNF827,synonymous_variant,p.%3D,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000511534,;ZNF827,upstream_gene_variant,,ENST00000509940,;	2122	79	115	SUCCESS
PRSS48	345062	.	GRCh37	4	152203321	152203321	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	21	91	0	ENST00000455694.2:c.237del	p.Tyr79Ter	p.Y79*	ENST00000455694	NM_183375.2	79	taT/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS47145.1	237	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCATATACTGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24273,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000401328	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000455694	Transcript	.	.	ENSG00000189099	24635	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRS48_HUMAN	PRSS48	HGNC	.	.	UPI0000047B08	deletion	PRSS48,frameshift_variant,p.Tyr79Ter,ENST00000455694,;PRSS48,intron_variant,,ENST00000441586,;SH3D19,intron_variant,,ENST00000604030,;RP11-731D1.3,upstream_gene_variant,,ENST00000507181,;	239	91	151	SUCCESS
MAP9	79884	.	GRCh37	4	156289851	156289851	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	32	109	0	ENST00000311277.4:c.595A>T	p.Thr199Ser	p.T199S	ENST00000311277	NM_001039580.1	199	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS35493.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTTTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14739	.	.	ENSP00000310593	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000311277	Transcript	.	.	ENSG00000164114	26118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.33)	.	MAP9_HUMAN	MAP9	HGNC	C9JXH8_HUMAN,A2VCT0_HUMAN	.	UPI000020B618	SNV	MAP9,missense_variant,p.Thr199Ser,ENST00000311277,;MAP9,missense_variant,p.Thr126Ser,ENST00000379248,;MAP9,missense_variant,p.Thr199Ser,ENST00000515654,;MAP9,missense_variant,p.Thr198Ser,ENST00000433024,;AC097467.2,non_coding_transcript_exon_variant,,ENST00000597831,;AC097467.2,intron_variant,,ENST00000596165,;AC097467.2,downstream_gene_variant,,ENST00000600928,;AC097467.2,downstream_gene_variant,,ENST00000598890,;MAP9,missense_variant,p.Thr199Ser,ENST00000424373,;MAP9,downstream_gene_variant,,ENST00000481250,;	859	109	134	SUCCESS
PPARGC1A	10891	.	GRCh37	4	23826123	23826123	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1466813726	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	44	0	ENST00000264867.2:c.766A>G	p.Thr256Ala	p.T256A	ENST00000264867	NM_013261.3	256	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3429.1	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGTTGGTT	NONE	.	.	hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528	.	.	ENSP00000264867	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000264867	Transcript	1	.	ENSG00000109819	9237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	tolerated(0.06)	.	PRGC1_HUMAN	PPARGC1A	HGNC	G8DM16_HUMAN	.	UPI000004D072	SNV	PPARGC1A,missense_variant,p.Thr256Ala,ENST00000264867,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509642,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,downstream_gene_variant,,ENST00000508380,;PPARGC1A,missense_variant,p.Thr256Ala,ENST00000513205,;PPARGC1A,missense_variant,p.Thr256Ala,ENST00000506055,;PPARGC1A,downstream_gene_variant,,ENST00000514479,;	886	44	41	SUCCESS
SEL1L3	23231	.	GRCh37	4	25836852	25836852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	82	0	ENST00000399878.3:c.827A>T	p.Glu276Val	p.E276V	ENST00000399878	NM_015187.3	276	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS47037.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTCCAGC	NONE	.	.	hmmpanther:PTHR11102:SF58,hmmpanther:PTHR11102	.	.	ENSP00000382767	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000399878	Transcript	.	.	ENSG00000091490	29108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SE1L3_HUMAN	SEL1L3	HGNC	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN	.	UPI00001D7736	SNV	SEL1L3,missense_variant,p.Glu276Val,ENST00000399878,;SEL1L3,missense_variant,p.Glu123Val,ENST00000502949,;SEL1L3,missense_variant,p.Glu241Val,ENST00000264868,;SEL1L3,non_coding_transcript_exon_variant,,ENST00000513364,;	950	82	92	SUCCESS
RFC1	5981	.	GRCh37	4	39304373	39304373	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199688793	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	56	240	0	ENST00000381897.1:c.2327G>A	p.Arg776Gln	p.R776Q	ENST00000381897	NM_002913.4	776	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS56329.1	2327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCGAGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,Gene3D:1.10.8.60,SMART_domains:SM00382,PIRSF_domain:PIRSF036578,Superfamily_domains:SSF52540	.	.	ENSP00000371321	.	17/25	.	.	.	.	.	.	.	.	rs199688793	17/25	PASS	ENST00000381897	Transcript	.	.	ENSG00000035928	9969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	RFC1_HUMAN	RFC1	HGNC	.	.	UPI0000167BB4	SNV	RFC1,missense_variant,p.Arg776Gln,ENST00000381897,;RFC1,missense_variant,p.Arg775Gln,ENST00000349703,;RFC1,downstream_gene_variant,,ENST00000504554,;RFC1,downstream_gene_variant,,ENST00000502706,;RFC1,non_coding_transcript_exon_variant,,ENST00000505077,;	2461	240	264	SUCCESS
NFXL1	152518	.	GRCh37	4	47900865	47900865	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	48	168	0	ENST00000329043.3:c.998A>T	p.Gln333Leu	p.Q333L	ENST00000329043		333	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3478.2	998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTGACAG	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1,Pfam_domain:PF01422,SMART_domains:SM00438	.	.	ENSP00000422037	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,missense_variant,p.Gln333Leu,ENST00000381538,;NFXL1,missense_variant,p.Gln333Leu,ENST00000507489,;NFXL1,missense_variant,p.Gln333Leu,ENST00000329043,;NFXL1,missense_variant,p.Gln333Leu,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;	1175	168	211	SUCCESS
LPHN3	0	.	GRCh37	4	62679600	62679600	+	synonymous_variant	Silent	SNP	T	T	A	rs763251045	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	86	1	ENST00000514591.1:c.1269T>A	p.Ser423=	p.S423=	ENST00000514591		423	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54768.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGTTAA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60	.	.	ENSP00000422533	.	8/25	.	.	.	.	.	.	.	.	rs763251045	8/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,synonymous_variant,p.%3D,ENST00000506720,;LPHN3,synonymous_variant,p.%3D,ENST00000545650,;LPHN3,synonymous_variant,p.%3D,ENST00000507625,;LPHN3,synonymous_variant,p.%3D,ENST00000504896,;LPHN3,synonymous_variant,p.%3D,ENST00000508946,;LPHN3,synonymous_variant,p.%3D,ENST00000506700,;LPHN3,synonymous_variant,p.%3D,ENST00000514591,;LPHN3,synonymous_variant,p.%3D,ENST00000514996,;LPHN3,synonymous_variant,p.%3D,ENST00000506746,;LPHN3,synonymous_variant,p.%3D,ENST00000508693,;LPHN3,synonymous_variant,p.%3D,ENST00000514157,;LPHN3,synonymous_variant,p.%3D,ENST00000512091,;LPHN3,synonymous_variant,p.%3D,ENST00000509896,;LPHN3,synonymous_variant,p.%3D,ENST00000511324,;LPHN3,synonymous_variant,p.%3D,ENST00000507164,;	1598	87	81	SUCCESS
PDE6B	5158	.	GRCh37	4	656887	656887	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	95	0	ENST00000496514.1:c.1833-2A>T		p.X611_splice	ENST00000496514		611		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33932.1	.	MUTECT|MUSE|VARSCANS	.	GTAACAGGTCC	NONE	.	.	.	.	.	ENSP00000420295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	HIGH	14/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,splice_acceptor_variant,,ENST00000429163,;PDE6B,splice_acceptor_variant,,ENST00000496514,;PDE6B,splice_acceptor_variant,,ENST00000255622,;PDE6B,upstream_gene_variant,,ENST00000471824,;PDE6B,upstream_gene_variant,,ENST00000461490,;RP11-1191J2.5,upstream_gene_variant,,ENST00000609172,;PDE6B,upstream_gene_variant,,ENST00000460119,;	.	95	103	SUCCESS
YTHDC1	91746	.	GRCh37	4	69198561	69198561	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	58	0	ENST00000344157.4:c.978A>G	p.Ser326=	p.S326=	ENST00000344157	NM_001031732.2	326	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS33992.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGAACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12357	.	.	ENSP00000339245	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000344157	Transcript	.	.	ENSG00000083896	30626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YTDC1_HUMAN	YTHDC1	HGNC	J3KS01_HUMAN	.	UPI000020B86D	SNV	YTHDC1,synonymous_variant,p.%3D,ENST00000579690,;YTHDC1,synonymous_variant,p.%3D,ENST00000344157,;YTHDC1,intron_variant,,ENST00000355665,;YTHDC1,downstream_gene_variant,,ENST00000510746,;YTHDC1,downstream_gene_variant,,ENST00000505251,;YTHDC1,upstream_gene_variant,,ENST00000506175,;	1314	58	55	SUCCESS
DSPP	1834	.	GRCh37	4	88534079	88534079	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	81	231	0	ENST00000282478.7:c.741T>G	p.Ser247Arg	p.S247R	ENST00000282478		247	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS43248.1	741	RADIA|MUTECT	.	CCTAGTGGGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000382213	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,missense_variant,p.Ser247Arg,ENST00000282478,;DSPP,missense_variant,p.Ser247Arg,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	861	231	230	SUCCESS
DSPP	1834	.	GRCh37	4	88534092	88534092	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	89	235	0	ENST00000282478.7:c.754G>C	p.Asp252His	p.D252H	ENST00000282478		252	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS43248.1	754	RADIA|MUTECT|MUSE	.	GAGCAGATGAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000382213	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,missense_variant,p.Asp252His,ENST00000282478,;DSPP,missense_variant,p.Asp252His,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	874	235	237	SUCCESS
SLC2A9	56606	.	GRCh37	4	9828041	9828041	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747970630	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	22	111	0	ENST00000264784.3:c.1603A>G	p.Lys535Glu	p.K535E	ENST00000264784	NM_020041.2	535	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3407.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTTACCAT	BUFFER|p.G509G|c.1527A>T|3,BUFFER|p.G538G|c.1614A>T|3	.	.	hmmpanther:PTHR24063:SF8,hmmpanther:PTHR24063	.	.	ENSP00000264784	.	12/12	.	.	.	.	.	.	.	.	rs747970630	12/12	PASS	ENST00000264784	Transcript	1	.	ENSG00000109667	13446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.12)	.	GTR9_HUMAN	SLC2A9	HGNC	.	.	UPI000013D56E	SNV	SLC2A9,missense_variant,p.Lys506Glu,ENST00000506583,;SLC2A9,missense_variant,p.Lys506Glu,ENST00000309065,;SLC2A9,missense_variant,p.Lys535Glu,ENST00000264784,;SLC2A9,splice_region_variant,,ENST00000512342,;SLC2A9,splice_region_variant,,ENST00000508585,;SLC2A9,splice_region_variant,,ENST00000503280,;SLC2A9,splice_region_variant,,ENST00000503803,;	1657	111	139	SUCCESS
PAM	5066	.	GRCh37	5	102326046	102326046	+	synonymous_variant	Silent	SNP	T	T	C	rs756785296	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	14	121	0	ENST00000438793.3:c.1554T>C	p.Ala518=	p.A518=	ENST00000438793	NM_001177306.1	518	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS43348.1	1554	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTCTAGA	NONE	.	.	PROSITE_profiles:PS51125,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000306100	.	15/25	.	.	.	.	.	.	.	.	rs756785296	15/25	PASS	ENST00000304400	Transcript	.	.	ENSG00000145730	8596	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMD_HUMAN	PAM	HGNC	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN	.	UPI000015618B	SNV	PAM,synonymous_variant,p.%3D,ENST00000379799,;PAM,synonymous_variant,p.%3D,ENST00000348126,;PAM,synonymous_variant,p.%3D,ENST00000304400,;PAM,synonymous_variant,p.%3D,ENST00000346918,;PAM,synonymous_variant,p.%3D,ENST00000438793,;PAM,synonymous_variant,p.%3D,ENST00000274392,;PAM,synonymous_variant,p.%3D,ENST00000455264,;PAM,5_prime_UTR_variant,,ENST00000379787,;PAM,3_prime_UTR_variant,,ENST00000345721,;PAM,non_coding_transcript_exon_variant,,ENST00000511429,;	1740	121	138	SUCCESS
GIN1	54826	.	GRCh37	5	102432263	102432263	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	18	92	0	ENST00000399004.2:c.1276A>T	p.Arg426Ter	p.R426*	ENST00000399004	NM_017676.2	426	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43349.1	1276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTATGT	NONE	.	.	hmmpanther:PTHR24559:SF168,hmmpanther:PTHR24559	.	.	ENSP00000381970	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,stop_gained,p.Arg426Ter,ENST00000399004,;GIN1,intron_variant,,ENST00000508629,;GIN1,intron_variant,,ENST00000507478,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,intron_variant,,ENST00000513747,;	1371	92	115	SUCCESS
TMEM232	642987	.	GRCh37	5	109954157	109954157	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs557269788	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	82	0	ENST00000455884.2:c.875A>T	p.His292Leu	p.H292L	ENST00000455884		292	cAt/cTt	0	.	C:0.0023	.	C:0	.	A	H/L	protein_coding	YES	CCDS47253.2	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTATGGAAG	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000401477	C:0	8/14	.	.	.	.	.	.	.	.	rs557269788	8/14	PASS	ENST00000455884	Transcript	.	C:0.0006	ENSG00000186952	37270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	C:0	tolerated(0.4)	.	TM232_HUMAN	TMEM232	HGNC	D6REY3_HUMAN,D6RC30_HUMAN	.	UPI00017A7675	SNV	TMEM232,missense_variant,p.His292Leu,ENST00000429839,;TMEM232,missense_variant,p.His292Leu,ENST00000455884,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515363,;TMEM232,3_prime_UTR_variant,,ENST00000512003,;TMEM232,non_coding_transcript_exon_variant,,ENST00000508571,;	926	82	95	SUCCESS
APC	324	.	GRCh37	5	112179022	112179022	+	synonymous_variant	Silent	SNP	A	A	T	rs537187449	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	109	0	ENST00000257430.4:c.7731A>T	p.Ser2577=	p.S2577=	ENST00000257430	NM_000038.5	2577	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4107.1	7731	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCATCAGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Pfam_domain:PF05956	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	rs537187449	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,synonymous_variant,p.%3D,ENST00000457016,;APC,synonymous_variant,p.%3D,ENST00000257430,;APC,synonymous_variant,p.%3D,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000508624,;	8111	109	118	SUCCESS
MCC	4163	.	GRCh37	5	112363149	112363149	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	57	0	ENST00000302475.4:c.2340G>C	p.Lys780Asn	p.K780N	ENST00000302475	NM_002387.2	780	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS43351.1	2910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCTTTGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF4,Pfam_domain:PF10506	.	.	ENSP00000386227	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.05)	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,missense_variant,p.Lys780Asn,ENST00000302475,;MCC,missense_variant,p.Lys717Asn,ENST00000515367,;MCC,missense_variant,p.Lys970Asn,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	3326	57	73	SUCCESS
SNCAIP	9627	.	GRCh37	5	121786551	121786551	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	9	84	0	ENST00000261368.8:c.2009T>G	p.Leu670Arg	p.L670R	ENST00000261368	NM_005460.2	670	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS4131.1	2009	MUTECT|MUSE	.	ACAGCTGATGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22882	.	.	ENSP00000261368	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000261368	Transcript	1	.	ENSG00000064692	11139	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SNCAP_HUMAN	SNCAIP	HGNC	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN	.	UPI000006D872	SNV	SNCAIP,missense_variant,p.Leu610Arg,ENST00000379536,;SNCAIP,missense_variant,p.Leu610Arg,ENST00000509154,;SNCAIP,missense_variant,p.Leu670Arg,ENST00000261368,;SNCAIP,missense_variant,p.Leu304Arg,ENST00000379538,;SNCAIP,missense_variant,p.Leu228Arg,ENST00000542191,;SNCAIP,missense_variant,p.Leu717Arg,ENST00000379533,;SNCAIP,missense_variant,p.Leu272Arg,ENST00000414317,;SNCAIP,missense_variant,p.Leu717Arg,ENST00000261367,;SNCAIP,3_prime_UTR_variant,,ENST00000503116,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;CTC-210G5.1,intron_variant,,ENST00000510972,;CTC-210G5.1,intron_variant,,ENST00000505546,;CTC-210G5.1,intron_variant,,ENST00000503529,;CTC-210G5.1,intron_variant,,ENST00000506053,;CTC-210G5.1,intron_variant,,ENST00000509993,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000509023,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000513719,;	2271	84	113	SUCCESS
ALDH7A1	501	.	GRCh37	5	125903957	125903957	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	59	0	ENST00000409134.3:c.865A>T	p.Arg289Trp	p.R289W	ENST00000409134	NM_001201377.1	289	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4137.2	865	RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTCTCCT	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF144,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720	.	.	ENSP00000387123	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000409134	Transcript	1	.	ENSG00000164904	877	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AL7A1_HUMAN	ALDH7A1	HGNC	.	.	UPI0000D4C5DE	SNV	ALDH7A1,missense_variant,p.Arg289Trp,ENST00000553117,;ALDH7A1,missense_variant,p.Arg289Trp,ENST00000409134,;ALDH7A1,missense_variant,p.Arg316Trp,ENST00000447989,;ALDH7A1,downstream_gene_variant,,ENST00000510111,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000503281,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000433026,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000509459,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000413020,;ALDH7A1,3_prime_UTR_variant,,ENST00000458249,;	1085	59	77	SUCCESS
LMNB1	4001	.	GRCh37	5	126141268	126141268	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	5	55	0	ENST00000261366.5:c.522A>G	p.Glu174=	p.E174=	ENST00000261366	NM_001198557.1	174	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS4140.1	522	MUTECT|MUSE	.	TTGGAAGCCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF157	.	.	ENSP00000261366	.	3/11	.	.	.	.	.	.	.	.	COSM4155431	3/11	PASS	ENST00000261366	Transcript	1	.	ENSG00000113368	6637	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	LMNB1_HUMAN	LMNB1	HGNC	E9PBF6_HUMAN	.	UPI000013D170	SNV	LMNB1,synonymous_variant,p.%3D,ENST00000261366,;LMNB1,synonymous_variant,p.%3D,ENST00000395354,;LMNB1,non_coding_transcript_exon_variant,,ENST00000472034,;LMNB1,non_coding_transcript_exon_variant,,ENST00000460265,;LMNB1,non_coding_transcript_exon_variant,,ENST00000463908,;LMNB1,non_coding_transcript_exon_variant,,ENST00000504788,;LMNB1,downstream_gene_variant,,ENST00000492190,;	883	55	70	SUCCESS
ADAMTS19	171019	.	GRCh37	5	129019947	129019947	+	synonymous_variant	Silent	SNP	C	C	T	rs754348548	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	12	113	0	ENST00000274487.4:c.2781C>T	p.Cys927=	p.C927=	ENST00000274487	NM_133638.3	927	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS4146.1	2781	MUTECT|MUSE|VARSCANS	.	GATTGCGATGC	NONE	byFrequency	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000274487	.	18/23	.	.	.	.	.	.	.	.	rs754348548	18/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,synonymous_variant,p.%3D,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,upstream_gene_variant,,ENST00000509467,;	2926	113	109	SUCCESS
IL5	3567	.	GRCh37	5	131879078	131879078	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	19	111	0	ENST00000231454.1:c.93A>T	p.Lys31Asn	p.K31N	ENST00000231454	NM_000879.2	31	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4156.1	93	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTTTCAC	NONE	.	.	Prints_domain:PR00432,Superfamily_domains:SSF47266,Gene3D:1.20.1250.10,Pfam_domain:PF02025,hmmpanther:PTHR10525,hmmpanther:PTHR10525:SF0	.	.	ENSP00000231454	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000231454	Transcript	.	.	ENSG00000113525	6016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.399)	.	tolerated(0.27)	.	IL5_HUMAN	IL5	HGNC	.	.	UPI00000378AD	SNV	IL5,missense_variant,p.Lys31Asn,ENST00000231454,;IL5,intron_variant,,ENST00000450655,;IL5,non_coding_transcript_exon_variant,,ENST00000462418,;	137	111	133	SUCCESS
C5orf15	56951	.	GRCh37	5	133292672	133292672	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	31	167	0	ENST00000231512.3:c.676C>G	p.Leu226Val	p.L226V	ENST00000231512	NM_020199.2	226	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4167.1	676	RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGAAGAA	NONE	.	.	hmmpanther:PTHR16502,hmmpanther:PTHR16502:SF0	.	.	ENSP00000231512	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000231512	Transcript	.	.	ENSG00000113583	20656	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	KCT2_HUMAN	C5orf15	HGNC	.	.	UPI000003778A	SNV	C5orf15,missense_variant,p.Leu226Val,ENST00000231512,;C5orf15,downstream_gene_variant,,ENST00000507191,;C5orf15,downstream_gene_variant,,ENST00000509913,;	879	167	208	SUCCESS
TXNDC15	79770	.	GRCh37	5	134210212	134210212	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	79	0	ENST00000358387.4:c.95G>T	p.Gly32Val	p.G32V	ENST00000358387	NM_024715.3	32	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4180.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGGCGTGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR14684:SF1,hmmpanther:PTHR14684	.	.	ENSP00000351157	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000358387	Transcript	.	.	ENSG00000113621	20652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	deleterious_low_confidence(0.02)	.	TXD15_HUMAN	TXNDC15	HGNC	.	.	UPI00000359EE	SNV	TXNDC15,missense_variant,p.Gly32Val,ENST00000358387,;TXNDC15,missense_variant,p.Gly32Val,ENST00000506916,;TXNDC15,upstream_gene_variant,,ENST00000546290,;TXNDC15,upstream_gene_variant,,ENST00000508779,;TXNDC15,upstream_gene_variant,,ENST00000508810,;TXNDC15,missense_variant,p.Gly32Val,ENST00000511070,;TXNDC15,intron_variant,,ENST00000507024,;	720	79	75	SUCCESS
PCDHA12	56137	.	GRCh37	5	140257026	140257026	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	13	150	0	ENST00000398631.2:c.1969C>T	p.Pro657Ser	p.P657S	ENST00000398631	NM_018903.2	657	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47285.1	1969	MUTECT|MUSE|VARSCANS	.	GTGAGCCCGCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious_low_confidence(0)	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,missense_variant,p.Pro657Ser,ENST00000398631,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,upstream_gene_variant,,ENST00000289272,;PCDHA13,upstream_gene_variant,,ENST00000409494,;	1969	150	181	SUCCESS
PCDHB12	56124	.	GRCh37	5	140589743	140589743	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	25	126	0	ENST00000239450.2:c.1264A>G	p.Thr422Ala	p.T422A	ENST00000239450	NM_018932.3	422	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS4254.1	1264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCACCGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	deleterious_low_confidence(0.01)	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,missense_variant,p.Thr85Ala,ENST00000541609,;PCDHB12,missense_variant,p.Thr422Ala,ENST00000239450,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	1453	126	134	SUCCESS
SYNPO	11346	.	GRCh37	5	149997966	149997966	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749262179	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	27	177	0	ENST00000394243.1:c.37C>G	p.Pro13Ala	p.P13A	ENST00000394243	NM_001166208.1	13	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS54937.1	37	RADIA|MUTECT|MUSE	.	TTGCACCCAGC	NONE	.	.	hmmpanther:PTHR24217:SF11,hmmpanther:PTHR24217,Low_complexity_(Seg):seg	.	.	ENSP00000377789	.	2/3	.	.	.	.	.	.	.	.	rs749262179	2/3	PASS	ENST00000394243	Transcript	.	.	ENSG00000171992	30672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.73)	.	SYNPO_HUMAN	SYNPO	HGNC	Q71HJ6_HUMAN	.	UPI000013F943	SNV	SYNPO,missense_variant,p.Pro13Ala,ENST00000394243,;SYNPO,missense_variant,p.Pro13Ala,ENST00000522122,;CTB-140J7.2,upstream_gene_variant,,ENST00000517474,;	411	177	169	SUCCESS
SYNPO	11346	.	GRCh37	5	149997969	149997969	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	28	181	0	ENST00000394243.1:c.40A>T	p.Ser14Cys	p.S14C	ENST00000394243	NM_001166208.1	14	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS54937.1	40	RADIA|MUTECT|MUSE	.	CACCCAGCGAA	NONE	.	.	hmmpanther:PTHR24217:SF11,hmmpanther:PTHR24217	.	.	ENSP00000377789	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000394243	Transcript	.	.	ENSG00000171992	30672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.874)	.	deleterious_low_confidence(0)	.	SYNPO_HUMAN	SYNPO	HGNC	Q71HJ6_HUMAN	.	UPI000013F943	SNV	SYNPO,missense_variant,p.Ser14Cys,ENST00000394243,;SYNPO,missense_variant,p.Ser14Cys,ENST00000522122,;CTB-140J7.2,upstream_gene_variant,,ENST00000517474,;	414	181	173	SUCCESS
FAT2	2196	.	GRCh37	5	150925156	150925156	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765145095	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	49	178	0	ENST00000261800.5:c.5532C>A	p.Asp1844Glu	p.D1844E	ENST00000261800	NM_001447.2	1844	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS4317.1	5532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGTCATG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	9/23	.	.	.	.	.	.	.	.	rs765145095	9/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Asp1844Glu,ENST00000261800,;	5545	178	164	SUCCESS
CPEB4	80315	.	GRCh37	5	173372134	173372134	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	21	134	0	ENST00000265085.5:c.1447A>G	p.Ile483Val	p.I483V	ENST00000265085	NM_030627.2	483	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4390.1	1447	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACATTGAT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR12566:SF2,hmmpanther:PTHR12566,PROSITE_profiles:PS50102	.	.	ENSP00000265085	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000265085	Transcript	.	.	ENSG00000113742	21747	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.555)	.	tolerated(0.11)	.	CPEB4_HUMAN	CPEB4	HGNC	.	.	UPI000020C179	SNV	CPEB4,missense_variant,p.Ile93Val,ENST00000522336,;CPEB4,missense_variant,p.Ile466Val,ENST00000334035,;CPEB4,missense_variant,p.Ile458Val,ENST00000519835,;CPEB4,missense_variant,p.Ile76Val,ENST00000517880,;CPEB4,missense_variant,p.Ile458Val,ENST00000520867,;CPEB4,missense_variant,p.Ile483Val,ENST00000265085,;CPEB4,downstream_gene_variant,,ENST00000519152,;CPEB4,non_coding_transcript_exon_variant,,ENST00000519467,;	2901	134	126	SUCCESS
MXD3	83463	.	GRCh37	5	176738964	176738964	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	29	0	ENST00000439742.2:c.-133G>A		p.*45*	ENST00000439742	NM_031300.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4416.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCGGGAA	NONE	.	.	.	.	.	ENSP00000401867	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000439742	Transcript	.	.	ENSG00000213347	14008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAD3_HUMAN	MXD3	HGNC	D6RD21_HUMAN	.	UPI00000437EB	SNV	MXD3,5_prime_UTR_variant,,ENST00000439742,;MXD3,intron_variant,,ENST00000513063,;MXD3,upstream_gene_variant,,ENST00000513169,;MXD3,upstream_gene_variant,,ENST00000427908,;MXD3,upstream_gene_variant,,ENST00000423571,;MXD3,upstream_gene_variant,,ENST00000502529,;MXD3,upstream_gene_variant,,ENST00000509339,;MXD3,upstream_gene_variant,,ENST00000503473,;MXD3,upstream_gene_variant,,ENST00000503782,;	347	29	34	SUCCESS
TRIM7	81786	.	GRCh37	5	180626894	180626894	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	70	0	ENST00000274773.7:c.806A>T	p.Gln269Leu	p.Q269L	ENST00000274773	NM_203293.2	269	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4462.1	806	RADIA|MUTECT|MUSE	.	GGATCTGGCTG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF221	.	.	ENSP00000274773	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000274773	Transcript	.	.	ENSG00000146054	16278	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.205)	.	deleterious(0)	.	TRIM7_HUMAN	TRIM7	HGNC	.	.	UPI000006D24A	SNV	TRIM7,missense_variant,p.Gln87Leu,ENST00000393319,;TRIM7,missense_variant,p.Gln61Leu,ENST00000393315,;TRIM7,missense_variant,p.Gln269Leu,ENST00000274773,;TRIM7,missense_variant,p.Gln61Leu,ENST00000422067,;TRIM7,missense_variant,p.Gln61Leu,ENST00000361809,;TRIM7,downstream_gene_variant,,ENST00000334421,;CTC-338M12.6,non_coding_transcript_exon_variant,,ENST00000512508,;CTC-338M12.6,intron_variant,,ENST00000419707,;CTC-338M12.6,intron_variant,,ENST00000511517,;CTC-338M12.6,intron_variant,,ENST00000509080,;CTC-338M12.6,intron_variant,,ENST00000502812,;CTC-338M12.6,upstream_gene_variant,,ENST00000514784,;TRIM7,downstream_gene_variant,,ENST00000509199,;TRIM7,upstream_gene_variant,,ENST00000504241,;	868	70	75	SUCCESS
CDH18	1016	.	GRCh37	5	19591188	19591188	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs528650652	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	10	60	0	ENST00000274170.4:c.977A>G	p.Glu326Gly	p.E326G	ENST00000274170		326	gAa/gGa	0	.	A:0	.	A:0	.	C	E/G	protein_coding	YES	CCDS3889.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTCTCTG	NONE	by1000G	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	A:0	.	ENSP00000425093	A:0	9/15	.	.	.	.	.	.	.	.	rs528650652	9/15	PASS	ENST00000507958	Transcript	.	A:0.0002	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	A:0.001	deleterious(0)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Glu272Gly,ENST00000515257,;CDH18,missense_variant,p.Glu326Gly,ENST00000382275,;CDH18,missense_variant,p.Glu326Gly,ENST00000274170,;CDH18,missense_variant,p.Glu326Gly,ENST00000506372,;CDH18,missense_variant,p.Glu326Gly,ENST00000507958,;CDH18,missense_variant,p.Glu326Gly,ENST00000511273,;CDH18,missense_variant,p.Glu326Gly,ENST00000502796,;	1968	60	74	SUCCESS
NPR3	4883	.	GRCh37	5	32712409	32712409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	94	0	ENST00000265074.8:c.527G>A	p.Arg176His	p.R176H	ENST00000265074	NM_001204375.1	176	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS56357.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCGCGTGG	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2	.	.	ENSP00000265074	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,missense_variant,p.Arg176His,ENST00000265074,;NPR3,missense_variant,p.Arg176His,ENST00000415167,;NPR3,intron_variant,,ENST00000434067,;NPR3,intron_variant,,ENST00000509104,;NPR3,intron_variant,,ENST00000415685,;NPR3,upstream_gene_variant,,ENST00000507141,;NPR3,intron_variant,,ENST00000506712,;	870	94	124	SUCCESS
NUP155	9631	.	GRCh37	5	37370982	37370982	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	62	0	ENST00000231498.3:c.98A>G	p.Gln33Arg	p.Q33R	ENST00000231498	NM_153485.2	33	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3921.1	98	RADIA|MUTECT|MUSE|VARSCANS	.	GCAACTGACGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350	.	.	ENSP00000231498	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000231498	Transcript	1	.	ENSG00000113569	8063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.093)	.	tolerated(0.34)	.	NU155_HUMAN	NUP155	HGNC	B4DLT2_HUMAN,B3KMK3_HUMAN	.	UPI0000001C7F	SNV	NUP155,missense_variant,p.Gln33Arg,ENST00000513532,;NUP155,missense_variant,p.Gln33Arg,ENST00000231498,;NUP155,upstream_gene_variant,,ENST00000381843,;NUP155,missense_variant,p.Gln33Arg,ENST00000507675,;	302	62	87	SUCCESS
C9	735	.	GRCh37	5	39341729	39341729	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764410729	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	23	136	0	ENST00000263408.4:c.257G>A	p.Arg86Gln	p.R86Q	ENST00000263408	NM_001737.3	86	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3929.1	257	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTCGTCTG	NONE	.	.	Superfamily_domains:SSF82895,Superfamily_domains:SSF57184,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF333,PROSITE_profiles:PS50092	.	.	ENSP00000263408	.	3/11	.	.	.	.	.	.	.	.	rs764410729,COSM1544032	3/11	PASS	ENST00000263408	Transcript	1	.	ENSG00000113600	1358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.016)	.	tolerated(1)	0,1	CO9_HUMAN	C9	HGNC	Q9UGI4_HUMAN	.	UPI0000001065	SNV	C9,missense_variant,p.Arg86Gln,ENST00000263408,;C9,non_coding_transcript_exon_variant,,ENST00000509186,;C9,non_coding_transcript_exon_variant,,ENST00000483232,;C9,non_coding_transcript_exon_variant,,ENST00000467285,;	353	136	162	SUCCESS
C5orf28	0	.	GRCh37	5	43446346	43446346	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	12	82	0	ENST00000397080.3:c.626A>T	p.His209Leu	p.H209L	ENST00000397080	NM_022483.4	209	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS3945.1	626	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATGTTTT	NONE	.	.	hmmpanther:PTHR13628,hmmpanther:PTHR13628:SF1	.	.	ENSP00000426067	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000500337	Transcript	.	.	ENSG00000151881	26139	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.156)	.	deleterious(0)	.	CE028_HUMAN	C5orf28	HGNC	Q6GMT5_HUMAN,D6RAV6_HUMAN	.	UPI000006FA64	SNV	C5orf28,missense_variant,p.His209Leu,ENST00000397080,;C5orf28,missense_variant,p.His209Leu,ENST00000500337,;C5orf28,missense_variant,p.His107Leu,ENST00000510130,;C5orf28,missense_variant,p.His78Leu,ENST00000537319,;C5orf28,missense_variant,p.His209Leu,ENST00000512085,;C5orf28,downstream_gene_variant,,ENST00000506860,;C5orf28,non_coding_transcript_exon_variant,,ENST00000511525,;	958	82	92	SUCCESS
PTCD2	79810	.	GRCh37	5	71618053	71618053	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	10	92	0	ENST00000308077.5:c.182A>G	p.Lys61Arg	p.K61R	ENST00000308077		61	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS4014.2	182	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAGAAAG	NONE	.	.	hmmpanther:PTHR14700	.	.	ENSP00000370013	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000380639	Transcript	.	.	ENSG00000049883	25734	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.22)	.	PTCD2_HUMAN	PTCD2	HGNC	D6RGK0_HUMAN,B3KPU6_HUMAN	.	UPI000066D9F8	SNV	PTCD2,missense_variant,p.Lys61Arg,ENST00000380639,;PTCD2,missense_variant,p.Lys61Arg,ENST00000543322,;PTCD2,missense_variant,p.Lys61Arg,ENST00000503868,;PTCD2,5_prime_UTR_variant,,ENST00000536805,;PTCD2,5_prime_UTR_variant,,ENST00000510676,;MRPS27,upstream_gene_variant,,ENST00000508863,;MRPS27,upstream_gene_variant,,ENST00000457646,;MRPS27,upstream_gene_variant,,ENST00000513900,;MRPS27,upstream_gene_variant,,ENST00000515404,;MRPS27,upstream_gene_variant,,ENST00000522095,;MRPS27,upstream_gene_variant,,ENST00000261413,;PTCD2,non_coding_transcript_exon_variant,,ENST00000493283,;MRPS27,upstream_gene_variant,,ENST00000520285,;MRPS27,upstream_gene_variant,,ENST00000523654,;MRPS27,upstream_gene_variant,,ENST00000522404,;MRPS27,upstream_gene_variant,,ENST00000506957,;PTCD2,missense_variant,p.Lys61Arg,ENST00000308077,;PTCD2,missense_variant,p.Lys61Arg,ENST00000511752,;PTCD2,missense_variant,p.Lys56Arg,ENST00000503315,;PTCD2,missense_variant,p.Lys61Arg,ENST00000515198,;PTCD2,3_prime_UTR_variant,,ENST00000486995,;	198	92	100	SUCCESS
CMYA5	202333	.	GRCh37	5	79025753	79025753	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	23	180	0	ENST00000446378.2:c.1165A>G	p.Met389Val	p.M389V	ENST00000446378	NM_153610.3	389	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS47238.1	1165	RADIA|MUTECT|MUSE|VARSCANS	.	CAACTATGTTC	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,missense_variant,p.Met389Val,ENST00000446378,;	1196	180	175	SUCCESS
LIX1	167410	.	GRCh37	5	96478229	96478229	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758887825	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	17	103	0	ENST00000274382.4:c.52C>T	p.His18Tyr	p.H18Y	ENST00000274382	NM_153234.4	18	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS4088.1	52	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGAGGCA	NONE	.	.	hmmpanther:PTHR31139,Pfam_domain:PF14954	.	.	ENSP00000274382	.	1/6	.	.	.	.	.	.	.	.	rs758887825	1/6	PASS	ENST00000274382	Transcript	.	.	ENSG00000145721	18581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.07)	.	LIX1_HUMAN	LIX1	HGNC	.	.	UPI000007388A	SNV	LIX1,missense_variant,p.His18Tyr,ENST00000274382,;LIX1,5_prime_UTR_variant,,ENST00000512378,;CTD-2215E18.1,intron_variant,,ENST00000509481,;	348	103	105	SUCCESS
CEP57L1	285753	.	GRCh37	6	109477240	109477240	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	88	0	ENST00000359793.3:c.744+160A>G		p.*248*	ENST00000359793	NM_173830.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5071.1	.	MUTECT|MUSE	.	GGTATAAGGAC	NONE	.	.	.	.	.	ENSP00000383936	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407272	Transcript	.	.	ENSG00000183137	21561	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE57L_HUMAN	CEP57L1	HGNC	E5RK85_HUMAN,E5RJP9_HUMAN,E5RJG4_HUMAN,E5RIK8_HUMAN,E5RI49_HUMAN,E5RHF8_HUMAN,E5RH23_HUMAN,E5RG82_HUMAN,E5RG21_HUMAN	.	UPI00000741C4	SNV	CEP57L1,3_prime_UTR_variant,,ENST00000521277,;CEP57L1,intron_variant,,ENST00000520883,;CEP57L1,intron_variant,,ENST00000336977,;CEP57L1,intron_variant,,ENST00000523174,;CEP57L1,intron_variant,,ENST00000521522,;CEP57L1,intron_variant,,ENST00000368970,;CEP57L1,intron_variant,,ENST00000368968,;CEP57L1,intron_variant,,ENST00000522490,;CEP57L1,intron_variant,,ENST00000407272,;CEP57L1,intron_variant,,ENST00000523787,;CEP57L1,intron_variant,,ENST00000517392,;CEP57L1,intron_variant,,ENST00000359793,;CEP57L1,downstream_gene_variant,,ENST00000519095,;CEP57L1,downstream_gene_variant,,ENST00000518853,;CEP57L1,downstream_gene_variant,,ENST00000523209,;CEP57L1,downstream_gene_variant,,ENST00000519286,;CEP57L1,downstream_gene_variant,,ENST00000524064,;CEP57L1,downstream_gene_variant,,ENST00000519407,;CEP57L1,intron_variant,,ENST00000520761,;CEP57L1,intron_variant,,ENST00000520610,;	.	88	76	SUCCESS
DCBLD1	285761	.	GRCh37	6	117869448	117869448	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	27	137	0	ENST00000338728.5:c.1994A>T	p.Tyr665Phe	p.Y665F	ENST00000338728		665	tAc/tTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34522.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTACGACC	NONE	.	.	.	.	.	ENSP00000296955	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296955	Transcript	.	.	ENSG00000164465	21479	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCBD1_HUMAN	DCBLD1	HGNC	Q68DD5_HUMAN	.	UPI0000039E3E	SNV	DCBLD1,missense_variant,p.Tyr665Phe,ENST00000338728,;DCBLD1,missense_variant,p.Tyr466Phe,ENST00000368503,;DCBLD1,intron_variant,,ENST00000296955,;GOPC,intron_variant,,ENST00000467125,;DCBLD1,downstream_gene_variant,,ENST00000534777,;DCBLD1,downstream_gene_variant,,ENST00000487076,;DCBLD1,downstream_gene_variant,,ENST00000478345,;DCBLD1,intron_variant,,ENST00000533453,;DCBLD1,downstream_gene_variant,,ENST00000424717,;	.	137	101	SUCCESS
MAN1A1	4121	.	GRCh37	6	119669665	119669665	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs745565814	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	102	0	ENST00000368468.3:c.566A>T	p.Asp189Val	p.D189V	ENST00000368468	NM_005907.3	189	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS5122.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGTCGGCG	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF31,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000357453	.	2/13	.	.	.	.	.	.	.	.	rs745565814	2/13	PASS	ENST00000368468	Transcript	.	.	ENSG00000111885	6821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.195)	.	deleterious(0)	.	MA1A1_HUMAN	MAN1A1	HGNC	.	.	UPI000013D632	SNV	MAN1A1,missense_variant,p.Asp189Val,ENST00000368468,;MAN1A1,missense_variant,p.Asp189Val,ENST00000368466,;	1008	102	84	SUCCESS
ENPP1	5167	.	GRCh37	6	132189188	132189188	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	86	0	ENST00000360971.2:c.1195A>T	p.Met399Leu	p.M399L	ENST00000360971	NM_006208.2	399	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS5150.2	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTATGGTT	NONE	.	.	Superfamily_domains:SSF53649,Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151:SF64,hmmpanther:PTHR10151	.	.	ENSP00000354238	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000360971	Transcript	.	.	ENSG00000197594	3356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.09)	.	ENPP1_HUMAN	ENPP1	HGNC	Q9NS95_HUMAN	.	UPI00001303F0	SNV	ENPP1,missense_variant,p.Met399Leu,ENST00000360971,;ENPP1,3_prime_UTR_variant,,ENST00000513998,;ENPP1,non_coding_transcript_exon_variant,,ENST00000459624,;	1215	86	75	SUCCESS
EYA4	2070	.	GRCh37	6	133767789	133767789	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	128	0	ENST00000367895.5:c.105A>T	p.Leu35=	p.L35=	ENST00000367895	NM_004100.4	35	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5165.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTAGCAAG	NONE	.	.	hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF17	.	.	ENSP00000356870	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000367895	Transcript	.	.	ENSG00000112319	3522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYA4_HUMAN	EYA4	HGNC	.	.	UPI000013D649	SNV	EYA4,synonymous_variant,p.%3D,ENST00000430974,;EYA4,synonymous_variant,p.%3D,ENST00000431403,;EYA4,synonymous_variant,p.%3D,ENST00000355286,;EYA4,synonymous_variant,p.%3D,ENST00000355167,;EYA4,synonymous_variant,p.%3D,ENST00000531901,;EYA4,synonymous_variant,p.%3D,ENST00000367895,;EYA4,synonymous_variant,p.%3D,ENST00000452339,;EYA4,synonymous_variant,p.%3D,ENST00000525849,;EYA4,non_coding_transcript_exon_variant,,ENST00000525614,;EYA4,non_coding_transcript_exon_variant,,ENST00000421413,;EYA4,non_coding_transcript_exon_variant,,ENST00000531861,;	569	128	87	SUCCESS
MAP7	9053	.	GRCh37	6	136693743	136693743	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770364619	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	52	129	0	ENST00000354570.3:c.772A>G	p.Met258Val	p.M258V	ENST00000354570	NM_001198616.1	258	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS56455.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATGATGA	NONE	.	.	hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4	.	.	ENSP00000414712	.	9/19	.	.	.	.	.	.	.	.	rs770364619	9/19	PASS	ENST00000454590	Transcript	.	.	ENSG00000135525	6869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.5)	.	MAP7_HUMAN	MAP7	HGNC	.	.	UPI0001AE72EF	SNV	MAP7,missense_variant,p.Met243Val,ENST00000544465,;MAP7,missense_variant,p.Met280Val,ENST00000454590,;MAP7,missense_variant,p.Met258Val,ENST00000354570,;MAP7,missense_variant,p.Met243Val,ENST00000438100,;MAP7,missense_variant,p.Met112Val,ENST00000432797,;	956	129	96	SUCCESS
ESR1	2099	.	GRCh37	6	152415601	152415601	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	94	0	ENST00000206249.3:c.1451A>G	p.Asp484Gly	p.D484G	ENST00000206249	NM_000125.3	484	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5234.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGACACTT	NONE	.	.	hmmpanther:PTHR24084:SF3,hmmpanther:PTHR24084,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,PIRSF_domain:PIRSF500101,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508	.	.	ENSP00000405330	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000440973	Transcript	.	.	ENSG00000091831	3467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ESR1_HUMAN	ESR1	HGNC	Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN	.	UPI000004A328	SNV	ESR1,missense_variant,p.Asp484Gly,ENST00000440973,;ESR1,missense_variant,p.Asp484Gly,ENST00000338799,;ESR1,missense_variant,p.Asp484Gly,ENST00000443427,;ESR1,missense_variant,p.Asp372Gly,ENST00000456483,;ESR1,missense_variant,p.Asp484Gly,ENST00000206249,;ESR1,missense_variant,p.Asp223Gly,ENST00000406599,;ESR1,intron_variant,,ENST00000427531,;	1821	94	62	SUCCESS
NKAPL	222698	.	GRCh37	6	28227649	28227649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	17	126	0	ENST00000343684.3:c.500G>T	p.Ser167Ile	p.S167I	ENST00000343684	NM_001007531.2	167	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS34353.1	500	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGTTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3	.	.	ENSP00000345716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343684	Transcript	.	.	ENSG00000189134	21584	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.03)	.	NKAPL_HUMAN	NKAPL	HGNC	.	.	UPI0000072A86	SNV	NKAPL,missense_variant,p.Ser167Ile,ENST00000343684,;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;	552	126	139	SUCCESS
OR2J2	26707	.	GRCh37	6	29141609	29141609	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	20	95	0	ENST00000377167.2:c.197A>C	p.Asn66Thr	p.N66T	ENST00000377167	NM_030905.2	66	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS43434.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAACCTCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF207,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377167	Transcript	.	.	ENSG00000204700	8260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	OR2J2_HUMAN	OR2J2	HGNC	.	.	UPI000004B9D1	SNV	OR2J2,missense_variant,p.Asn66Thr,ENST00000377167,;	299	95	136	SUCCESS
PPP1R10	5514	.	GRCh37	6	30570416	30570416	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	33	0	ENST00000376511.2:c.2010A>T	p.Pro670=	p.P670=	ENST00000376511	NM_002714.3	670	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4681.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGTGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12506	.	.	ENSP00000365694	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000376511	Transcript	.	.	ENSG00000204569	9284	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP1RA_HUMAN	PPP1R10	HGNC	Q2L6I0_HUMAN	.	UPI000000D73C	SNV	PPP1R10,synonymous_variant,p.%3D,ENST00000376511,;PPP1R10,downstream_gene_variant,,ENST00000468181,;PPP1R10,downstream_gene_variant,,ENST00000461593,;PPP1R10,downstream_gene_variant,,ENST00000496955,;PPP1R10,downstream_gene_variant,,ENST00000476704,;	2563	33	45	SUCCESS
DDR1	780	.	GRCh37	6	30856421	30856421	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	42	0	ENST00000324771.8:c.-42-44A>T		p.*14*	ENST00000324771				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47396.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACTCAGTCCC	NONE	.	.	.	.	.	ENSP00000365759	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376575	Transcript	.	.	ENSG00000204580	2730	.	.	MODIFIER	3/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDR1_HUMAN	DDR1	HGNC	E7EXB0_HUMAN,E7EX99_HUMAN,E7EVW6_HUMAN,E7EVT1_HUMAN,E7EUD5_HUMAN,E7ETX3_HUMAN,E7ETI3_HUMAN,E7ESR9_HUMAN,E7ES06_HUMAN,E7ERN0_HUMAN,E7ERI6_HUMAN,E7EQ30_HUMAN,E7EQ23_HUMAN,E7EPN2_HUMAN,E7EPH4_HUMAN,E7ENJ2_HUMAN,E7EN94_HUMAN,D6RGW5_HUMAN,D6RBU7_HUMAN,D6RB82_HUMAN,D6RB35_HUMAN,D6R9C4_HUMAN,A2ABL2_HUMAN,A2ABL0_HUMAN	.	UPI0000146C6D	SNV	DDR1,5_prime_UTR_variant,,ENST00000376567,;DDR1,intron_variant,,ENST00000505066,;DDR1,intron_variant,,ENST00000508312,;DDR1,intron_variant,,ENST00000507901,;DDR1,intron_variant,,ENST00000376575,;DDR1,intron_variant,,ENST00000507046,;DDR1,intron_variant,,ENST00000376569,;DDR1,intron_variant,,ENST00000418800,;DDR1,intron_variant,,ENST00000503495,;DDR1,intron_variant,,ENST00000421124,;DDR1,intron_variant,,ENST00000504927,;DDR1,intron_variant,,ENST00000512725,;DDR1,intron_variant,,ENST00000376568,;DDR1,intron_variant,,ENST00000446312,;DDR1,intron_variant,,ENST00000504651,;DDR1,intron_variant,,ENST00000502955,;DDR1,intron_variant,,ENST00000460944,;DDR1,intron_variant,,ENST00000504679,;DDR1,intron_variant,,ENST00000513043,;DDR1,intron_variant,,ENST00000412274,;DDR1,intron_variant,,ENST00000515881,;DDR1,intron_variant,,ENST00000505534,;DDR1,intron_variant,,ENST00000515233,;DDR1,intron_variant,,ENST00000503670,;DDR1,intron_variant,,ENST00000324771,;DDR1,intron_variant,,ENST00000515219,;DDR1,intron_variant,,ENST00000508317,;DDR1,intron_variant,,ENST00000503180,;DDR1,intron_variant,,ENST00000512336,;DDR1,intron_variant,,ENST00000376570,;DDR1,intron_variant,,ENST00000512694,;DDR1,intron_variant,,ENST00000511510,;DDR1,intron_variant,,ENST00000396342,;DDR1,intron_variant,,ENST00000428153,;DDR1,intron_variant,,ENST00000452441,;DDR1,intron_variant,,ENST00000437124,;DDR1,intron_variant,,ENST00000509639,;DDR1,intron_variant,,ENST00000454612,;DDR1,upstream_gene_variant,,ENST00000417521,;DDR1,upstream_gene_variant,,ENST00000424544,;DDR1,upstream_gene_variant,,ENST00000513240,;DDR1,upstream_gene_variant,,ENST00000361741,;MIR4640,upstream_gene_variant,,ENST00000581824,;DDR1,downstream_gene_variant,,ENST00000515529,;DDR1,upstream_gene_variant,,ENST00000513514,;DDR1,downstream_gene_variant,,ENST00000506573,;DDR1,downstream_gene_variant,,ENST00000482050,;DDR1,upstream_gene_variant,,ENST00000508472,;DDR1,upstream_gene_variant,,ENST00000465966,;DDR1,intron_variant,,ENST00000513243,;DDR1,intron_variant,,ENST00000513749,;DDR1,intron_variant,,ENST00000504152,;DDR1,intron_variant,,ENST00000431373,;DDR1,intron_variant,,ENST00000482873,;DDR1,intron_variant,,ENST00000503628,;DDR1,upstream_gene_variant,,ENST00000507533,;DDR1,upstream_gene_variant,,ENST00000514534,;DDR1,upstream_gene_variant,,ENST00000485023,;	.	42	62	SUCCESS
TNXB	7148	.	GRCh37	6	32065840	32065840	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	84	0	ENST00000375244.3:c.136C>T	p.His46Tyr	p.H46Y	ENST00000375244		46	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	.	.	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGGCCCC	NONE	.	.	hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143	.	.	ENSP00000364396	.	2/44	.	.	.	.	.	.	.	.	.	2/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.His46Tyr,ENST00000375247,;TNXB,missense_variant,p.His46Tyr,ENST00000479795,;TNXB,missense_variant,p.His46Tyr,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000442721,;ATF6B,downstream_gene_variant,,ENST00000494022,;TNXB,non_coding_transcript_exon_variant,,ENST00000486148,;	338	85	81	SUCCESS
COL11A2	1302	.	GRCh37	6	33144072	33144072	+	synonymous_variant	Silent	SNP	G	G	A	rs138650682	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	15	103	0	ENST00000374708.4:c.1920C>T	p.Asp640=	p.D640=	ENST00000374708	NM_080681.2	640	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS43452.1	1920	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCGTCCAC	NONE	byCluster	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	A:0.0002	ENSP00000363840	.	26/64	.	.	.	.	.	.	.	.	rs138650682,COSM243779	26/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,synonymous_variant,p.%3D,ENST00000395197,;COL11A2,synonymous_variant,p.%3D,ENST00000374713,;COL11A2,synonymous_variant,p.%3D,ENST00000361917,;COL11A2,synonymous_variant,p.%3D,ENST00000374712,;COL11A2,synonymous_variant,p.%3D,ENST00000357486,;COL11A2,synonymous_variant,p.%3D,ENST00000374708,;COL11A2,synonymous_variant,p.%3D,ENST00000341947,;COL11A2,synonymous_variant,p.%3D,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	2179	103	140	SUCCESS
ANKS1A	23294	.	GRCh37	6	35051203	35051203	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	15	89	0	ENST00000360359.3:c.2917G>C	p.Glu973Gln	p.E973Q	ENST00000360359	NM_015245.2	973	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4798.1	2917	RADIA|MUTECT|MUSE|VARSCANS	.	CTACGGAGCAC	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR24174,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000353518	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000360359	Transcript	.	.	ENSG00000064999	20961	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ANS1A_HUMAN	ANKS1A	HGNC	.	.	UPI00001C1E4D	SNV	ANKS1A,missense_variant,p.Glu973Gln,ENST00000360359,;ANKS1A,intron_variant,,ENST00000535627,;ANKS1A,downstream_gene_variant,,ENST00000470698,;	3055	89	117	SUCCESS
CUL9	23113	.	GRCh37	6	43160940	43160940	+	synonymous_variant	Silent	SNP	G	G	A	rs775629593	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	63	0	ENST00000252050.4:c.2382G>A	p.Gly794=	p.G794=	ENST00000252050	NM_015089.2	794	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4890.1	2382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCTGGC	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000252050	.	9/41	.	.	.	.	.	.	.	.	rs775629593	9/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,synonymous_variant,p.%3D,ENST00000354495,;CUL9,synonymous_variant,p.%3D,ENST00000372647,;CUL9,synonymous_variant,p.%3D,ENST00000252050,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,downstream_gene_variant,,ENST00000510282,;CUL9,downstream_gene_variant,,ENST00000451399,;	2466	63	81	SUCCESS
CUL9	23113	.	GRCh37	6	43182826	43182826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	74	0	ENST00000252050.4:c.5698G>T	p.Ala1900Ser	p.A1900S	ENST00000252050	NM_015089.2	1900	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4890.1	5698	MUTECT|MUSE	.	TGGAGGCCTGG	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,SMART_domains:SM00884	.	.	ENSP00000252050	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.914)	.	tolerated(0.21)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Ala1790Ser,ENST00000354495,;CUL9,missense_variant,p.Ala1872Ser,ENST00000372647,;CUL9,missense_variant,p.Ala1900Ser,ENST00000252050,;RP3-330M21.5,intron_variant,,ENST00000500590,;CUL9,downstream_gene_variant,,ENST00000502937,;CUL9,missense_variant,p.Ala34Ser,ENST00000506830,;CUL9,3_prime_UTR_variant,,ENST00000502719,;CUL9,non_coding_transcript_exon_variant,,ENST00000508656,;CUL9,non_coding_transcript_exon_variant,,ENST00000513904,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,downstream_gene_variant,,ENST00000504485,;CUL9,downstream_gene_variant,,ENST00000505172,;	5782	74	80	SUCCESS
CUL9	23113	.	GRCh37	6	43182827	43182827	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146106470	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	75	0	ENST00000252050.4:c.5699C>T	p.Ala1900Val	p.A1900V	ENST00000252050	NM_015089.2	1900	gCc/gTc	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS4890.1	5699	MUTECT|MUSE	.	GGAGGCCTGGC	NONE	byCluster	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,SMART_domains:SM00884	.	T:0.0002	ENSP00000252050	.	30/41	.	.	.	.	.	.	.	.	rs146106470,COSM3366521	30/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.825)	.	deleterious(0.05)	0,1	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Ala1790Val,ENST00000354495,;CUL9,missense_variant,p.Ala1872Val,ENST00000372647,;CUL9,missense_variant,p.Ala1900Val,ENST00000252050,;RP3-330M21.5,intron_variant,,ENST00000500590,;CUL9,downstream_gene_variant,,ENST00000502937,;CUL9,missense_variant,p.Ala34Val,ENST00000506830,;CUL9,3_prime_UTR_variant,,ENST00000502719,;CUL9,non_coding_transcript_exon_variant,,ENST00000508656,;CUL9,non_coding_transcript_exon_variant,,ENST00000513904,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,downstream_gene_variant,,ENST00000504485,;CUL9,downstream_gene_variant,,ENST00000505172,;	5783	75	79	SUCCESS
SLC22A7	10864	.	GRCh37	6	43269998	43269998	+	synonymous_variant	Silent	SNP	C	C	T	rs760343501	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	16	97	0	ENST00000372585.5:c.1122C>T	p.Asn374=	p.N374=	ENST00000372585	NM_153320.2	374	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS4893.2	1122	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACGTGTA	NONE	byFrequency	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,Pfam_domain:PF07690,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473	.	.	ENSP00000361666	.	8/11	.	.	.	.	.	.	.	.	rs760343501	8/11	PASS	ENST00000372585	Transcript	.	.	ENSG00000137204	10971	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S22A7_HUMAN	SLC22A7	HGNC	.	.	UPI000006F307	SNV	SLC22A7,synonymous_variant,p.%3D,ENST00000372589,;SLC22A7,synonymous_variant,p.%3D,ENST00000436107,;SLC22A7,synonymous_variant,p.%3D,ENST00000372574,;SLC22A7,synonymous_variant,p.%3D,ENST00000372585,;CRIP3,intron_variant,,ENST00000416431,;CRIP3,downstream_gene_variant,,ENST00000451294,;SLC22A7,downstream_gene_variant,,ENST00000449231,;CRIP3,downstream_gene_variant,,ENST00000274990,;CRIP3,downstream_gene_variant,,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000451757,;ZNF318,downstream_gene_variant,,ENST00000607252,;SLC22A7,downstream_gene_variant,,ENST00000480882,;SLC22A7,downstream_gene_variant,,ENST00000487175,;CRIP3,downstream_gene_variant,,ENST00000487744,;CRIP3,downstream_gene_variant,,ENST00000477866,;SLC22A7,downstream_gene_variant,,ENST00000498232,;	1217	97	134	SUCCESS
TCTE1	202500	.	GRCh37	6	44250186	44250186	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	54	0	ENST00000371505.4:c.957T>A	p.Ile319=	p.I319=	ENST00000371505	NM_182539.3	319	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4910.1	957	MUTECT|MUSE	.	TCTCCAATGAG	NONE	.	.	hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000360560	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000371505	Transcript	.	.	ENSG00000146221	11693	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCTE1_HUMAN	TCTE1	HGNC	.	.	UPI0000160BC0	SNV	TCTE1,synonymous_variant,p.%3D,ENST00000371505,;TCTE1,intron_variant,,ENST00000371504,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,intron_variant,,ENST00000371503,;TMEM151B,downstream_gene_variant,,ENST00000451188,;RP11-444E17.6,intron_variant,,ENST00000505802,;	1080	54	51	SUCCESS
DST	667	.	GRCh37	6	56380272	56380272	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	68	0	ENST00000244364.6:c.10683A>C	p.Leu3561=	p.L3561=	ENST00000244364	NM_015548.4	3561	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS47443.1	10683	RADIA|MUTECT|MUSE	.	TGCCTTAGAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	53/84	.	.	.	.	.	.	.	.	.	53/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,synonymous_variant,p.%3D,ENST00000446842,;DST,synonymous_variant,p.%3D,ENST00000370788,;DST,synonymous_variant,p.%3D,ENST00000244364,;DST,synonymous_variant,p.%3D,ENST00000370754,;DST,synonymous_variant,p.%3D,ENST00000361203,;DST,synonymous_variant,p.%3D,ENST00000370769,;DST,synonymous_variant,p.%3D,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,non_coding_transcript_exon_variant,,ENST00000340834,;	10891	68	77	SUCCESS
EYS	346007	.	GRCh37	6	65300985	65300985	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	71	0	ENST00000370616.2:c.4775T>A	p.Ile1592Lys	p.I1592K	ENST00000370616		1592	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS47445.1	4775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATATCGCT	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	deleterious_low_confidence(0)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Ile1592Lys,ENST00000370616,;EYS,missense_variant,p.Ile1592Lys,ENST00000370621,;EYS,missense_variant,p.Ile1592Lys,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000330816,;	5313	71	63	SUCCESS
SSR1	6745	.	GRCh37	6	7301679	7301679	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	21	121	0	ENST00000244763.4:c.407A>C	p.Asn136Thr	p.N136T	ENST00000244763	NM_003144.3	136	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS4499.1	407	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAATTCTGG	NONE	.	.	Pfam_domain:PF03896,hmmpanther:PTHR12924,hmmpanther:PTHR12924:SF0	.	.	ENSP00000244763	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000244763	Transcript	.	.	ENSG00000124783	11323	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SSRA_HUMAN	SSR1	HGNC	.	.	UPI0000135FFE	SNV	SSR1,missense_variant,p.Asn136Thr,ENST00000397511,;SSR1,missense_variant,p.Asn109Thr,ENST00000534851,;SSR1,missense_variant,p.Asn136Thr,ENST00000244763,;SSR1,missense_variant,p.Asn136Thr,ENST00000474597,;SSR1,missense_variant,p.Asn136Thr,ENST00000479365,;SSR1,missense_variant,p.Asn136Thr,ENST00000462112,;SSR1,intron_variant,,ENST00000489567,;SSR1,upstream_gene_variant,,ENST00000479485,;RP11-69L16.4,downstream_gene_variant,,ENST00000379928,;SSR1,non_coding_transcript_exon_variant,,ENST00000483409,;SSR1,non_coding_transcript_exon_variant,,ENST00000488834,;	494	121	162	SUCCESS
OOEP	441161	.	GRCh37	6	74079023	74079023	+	synonymous_variant	Silent	SNP	G	G	A	rs372105159	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	60	124	0	ENST00000370359.5:c.276C>T	p.Val92=	p.V92=	ENST00000370359	NM_001080507.2	92	gtC/gtT	0	A:0.0005	A:0.0015	.	A:0	.	A	V	protein_coding	YES	CCDS47451.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCGACTAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19447:SF14,hmmpanther:PTHR19447	A:0	A:0	ENSP00000359384	A:0	2/3	.	.	.	.	.	.	.	.	rs372105159	2/3	PASS	ENST00000370359	Transcript	.	A:0.0004	ENSG00000203907	21382	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	OOEP_HUMAN	OOEP	HGNC	.	.	UPI00001D8132	SNV	OOEP,synonymous_variant,p.%3D,ENST00000441145,;OOEP,synonymous_variant,p.%3D,ENST00000370359,;OOEP,synonymous_variant,p.%3D,ENST00000370363,;OOEP-AS1,upstream_gene_variant,,ENST00000445350,;RPL39P3,downstream_gene_variant,,ENST00000424573,;	276	124	123	SUCCESS
COL12A1	1303	.	GRCh37	6	75875410	75875410	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	137	0	ENST00000322507.8:c.2796T>C	p.Val932=	p.V932=	ENST00000322507	NM_004370.5	932	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS43482.1	2796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGAACCAT	BUFFER|p.R933H|c.2798G>A|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	14/66	.	.	.	.	.	.	.	.	.	14/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;	3106	137	96	SUCCESS
PNISR	25957	.	GRCh37	6	99851737	99851737	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	43	194	0	ENST00000369239.5:c.1124A>T	p.Gln375Leu	p.Q375L	ENST00000369239	NM_032870.2	375	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5043.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTGTGCC	NONE	.	.	hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518	.	.	ENSP00000358242	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000369239	Transcript	.	.	ENSG00000132424	21222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.465)	.	tolerated(0.11)	.	PNISR_HUMAN	PNISR	HGNC	Q8TEZ9_HUMAN	.	UPI000013E3A2	SNV	PNISR,missense_variant,p.Gln375Leu,ENST00000369239,;PNISR,missense_variant,p.Gln375Leu,ENST00000438806,;PNISR,non_coding_transcript_exon_variant,,ENST00000460600,;PNISR,intron_variant,,ENST00000476159,;PNISR,upstream_gene_variant,,ENST00000481229,;PNISR,downstream_gene_variant,,ENST00000463021,;PNISR,3_prime_UTR_variant,,ENST00000478777,;	1329	194	164	SUCCESS
PNISR	25957	.	GRCh37	6	99854007	99854007	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	97	0	ENST00000369239.5:c.902A>G	p.Glu301Gly	p.E301G	ENST00000369239	NM_032870.2	301	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5043.1	902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTCAACA	NONE	.	.	hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518,Low_complexity_(Seg):seg	.	.	ENSP00000358242	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000369239	Transcript	.	.	ENSG00000132424	21222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious(0.01)	.	PNISR_HUMAN	PNISR	HGNC	Q8TEZ9_HUMAN	.	UPI000013E3A2	SNV	PNISR,missense_variant,p.Glu301Gly,ENST00000369239,;PNISR,missense_variant,p.Glu301Gly,ENST00000438806,;PNISR,upstream_gene_variant,,ENST00000481229,;PNISR,downstream_gene_variant,,ENST00000463021,;PNISR,upstream_gene_variant,,ENST00000476159,;PNISR,downstream_gene_variant,,ENST00000492294,;PNISR,upstream_gene_variant,,ENST00000460600,;PNISR,missense_variant,p.Glu301Gly,ENST00000478777,;	1107	97	75	SUCCESS
MUC17	140453	.	GRCh37	7	100680019	100680019	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	82	0	ENST00000306151.4:c.5322T>C	p.Ile1774=	p.I1774=	ENST00000306151	NM_001040105.1	1774	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS34711.1	5322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATTGACAC	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;	5386	82	98	SUCCESS
MUC17	140453	.	GRCh37	7	100680551	100680551	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	78	0	ENST00000306151.4:c.5854G>A	p.Asp1952Asn	p.D1952N	ENST00000306151	NM_001040105.1	1952	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS34711.1	5854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGACACC	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Asp1952Asn,ENST00000306151,;MUC17,missense_variant,p.Asp1952Asn,ENST00000379439,;	5918	78	90	SUCCESS
PMPCB	9512	.	GRCh37	7	102944347	102944347	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	15	120	0	ENST00000249269.4:c.516A>T	p.Glu172Asp	p.E172D	ENST00000249269	NM_004279.2	172	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS5730.1	516	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAACGTGA	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF103,Gene3D:3.30.830.10,Pfam_domain:PF00675,Superfamily_domains:SSF63411	.	.	ENSP00000249269	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	deleterious(0.03)	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,missense_variant,p.Glu172Asp,ENST00000428154,;PMPCB,missense_variant,p.Glu172Asp,ENST00000249269,;PMPCB,missense_variant,p.Glu67Asp,ENST00000420236,;PMPCB,3_prime_UTR_variant,,ENST00000444457,;PMPCB,3_prime_UTR_variant,,ENST00000453466,;PMPCB,3_prime_UTR_variant,,ENST00000443722,;PMPCB,non_coding_transcript_exon_variant,,ENST00000498530,;PMPCB,intron_variant,,ENST00000456433,;	554	120	152	SUCCESS
SYPL1	6856	.	GRCh37	7	105752947	105752947	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs778412371	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	57	0	ENST00000011473.2:c.29A>T	p.Gln10Leu	p.Q10L	ENST00000011473	NM_006754.3	10	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5736.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCTGGCGA	NONE	.	.	hmmpanther:PTHR10306:SF9,hmmpanther:PTHR10306	.	.	ENSP00000011473	.	1/6	.	.	.	.	.	.	.	.	rs778412371	1/6	PASS	ENST00000011473	Transcript	.	.	ENSG00000008282	11507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated_low_confidence(0.73)	.	SYPL1_HUMAN	SYPL1	HGNC	A4D0R2_HUMAN,A4D0R1_HUMAN	.	UPI0000073E3B	SNV	SYPL1,missense_variant,p.Gln10Leu,ENST00000011473,;SYPL1,upstream_gene_variant,,ENST00000470347,;SYPL1,upstream_gene_variant,,ENST00000455385,;SYPL1,non_coding_transcript_exon_variant,,ENST00000483448,;	76	57	85	SUCCESS
ST7	7982	.	GRCh37	7	116862960	116862960	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	85	0	ENST00000265437.5:c.1684A>T	p.Lys562Ter	p.K562*	ENST00000265437	NM_021908.2	562	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS5770.1	1684	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCAAGAGT	NONE	.	.	hmmpanther:PTHR12745,Pfam_domain:PF04184	.	.	ENSP00000265437	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000265437	Transcript	.	.	ENSG00000004866	11351	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ST7_HUMAN	ST7	HGNC	Q9NRC0_HUMAN,C9JZV9_HUMAN,C9JX79_HUMAN,C9JRQ0_HUMAN,C9JCI7_HUMAN	.	UPI00000702A3	SNV	ST7,stop_gained,p.Lys562Ter,ENST00000265437,;ST7,intron_variant,,ENST00000393443,;ST7,intron_variant,,ENST00000393449,;ST7,intron_variant,,ENST00000323984,;ST7,intron_variant,,ENST00000422922,;ST7,intron_variant,,ENST00000432298,;ST7,intron_variant,,ENST00000446490,;ST7,intron_variant,,ENST00000393447,;ST7,intron_variant,,ENST00000393451,;ST7,intron_variant,,ENST00000490039,;ST7,intron_variant,,ENST00000393446,;ST7,intron_variant,,ENST00000393444,;ST7,downstream_gene_variant,,ENST00000465641,;ST7,downstream_gene_variant,,ENST00000543837,;ST7,non_coding_transcript_exon_variant,,ENST00000464020,;ST7,downstream_gene_variant,,ENST00000443979,;	1898	85	84	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117361141	117361141	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	75	0	ENST00000160373.3:c.4491T>C	p.Asn1497=	p.N1497=	ENST00000160373	NM_033427.2	1497	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS5774.1	4491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCATTCCT	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,synonymous_variant,p.%3D,ENST00000446636,;CTTNBP2,synonymous_variant,p.%3D,ENST00000160373,;CTTNBP2,3_prime_UTR_variant,,ENST00000445366,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	4583	75	86	SUCCESS
ANKRD7	56311	.	GRCh37	7	117867992	117867992	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	37	0	ENST00000265224.4:c.179+2929C>T		p.*60*	ENST00000265224	NM_019644.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43638.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCCAATC	NONE	.	.	.	.	.	ENSP00000265224	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265224	Transcript	.	.	ENSG00000106013	18588	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKR7_HUMAN	ANKRD7	HGNC	Q9UPM1_HUMAN	.	UPI0000E826A8	SNV	ANKRD7,synonymous_variant,p.%3D,ENST00000486422,;ANKRD7,synonymous_variant,p.%3D,ENST00000357099,;ANKRD7,intron_variant,,ENST00000433239,;ANKRD7,intron_variant,,ENST00000417525,;ANKRD7,intron_variant,,ENST00000265224,;ANKRD7,intron_variant,,ENST00000477532,;	.	37	54	SUCCESS
FLNC	2318	.	GRCh37	7	128486380	128486380	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	74	0	ENST00000325888.8:c.3990T>A	p.Tyr1330Ter	p.Y1330*	ENST00000325888	NM_001458.4	1330	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS43644.1	3990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTATGATGA	NONE	.	.	Superfamily_domains:SSF81296,Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,stop_gained,p.Tyr1330Ter,ENST00000325888,;FLNC,stop_gained,p.Tyr1330Ter,ENST00000346177,;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;FLNC,downstream_gene_variant,,ENST00000388853,;	4251	74	74	SUCCESS
FLNC	2318	.	GRCh37	7	128497184	128497184	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	55	0	ENST00000325888.8:c.7574A>T	p.Glu2525Val	p.E2525V	ENST00000325888	NM_001458.4	2525	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS43644.1	7574	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAGTTCA	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.723)	.	tolerated(0.06)	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,missense_variant,p.Glu2525Val,ENST00000325888,;FLNC,missense_variant,p.Glu2492Val,ENST00000346177,;RP11-309L24.2,intron_variant,,ENST00000469965,;	7835	55	64	SUCCESS
KIAA1549	57670	.	GRCh37	7	138566238	138566238	+	synonymous_variant	Silent	SNP	C	C	T	rs377023001	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	32	126	0	ENST00000422774.1:c.4125G>A	p.Ala1375=	p.A1375=	ENST00000422774		1375	gcG/gcA	0	T:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS56513.1	4125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCGCTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	.	T:0	ENSP00000416040	.	11/20	.	.	.	.	.	.	.	.	rs377023001,COSM261625,COSM261624	11/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,synonymous_variant,p.%3D,ENST00000422774,;KIAA1549,synonymous_variant,p.%3D,ENST00000242365,;KIAA1549,synonymous_variant,p.%3D,ENST00000440172,;	4174	126	134	SUCCESS
WEE2	494551	.	GRCh37	7	141424074	141424074	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs776207184	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	44	179	0	ENST00000397541.2:c.1220A>T	p.Glu407Val	p.E407V	ENST00000397541	NM_001105558.1	407	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS43660.1	1220	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGAGGTAT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF037281,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF75,PROSITE_profiles:PS50011	.	.	ENSP00000380675	.	8/12	.	.	.	.	.	.	.	.	rs776207184	8/12	PASS	ENST00000397541	Transcript	.	.	ENSG00000214102	19684	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	WEE2_HUMAN	WEE2	HGNC	.	.	UPI000004E9D3	SNV	WEE2,missense_variant,p.Glu182Val,ENST00000493845,;WEE2,missense_variant,p.Glu407Val,ENST00000397541,;RNU1-82P,upstream_gene_variant,,ENST00000390851,;WEE2-AS1,intron_variant,,ENST00000484172,;WEE2-AS1,intron_variant,,ENST00000486906,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000459753,;WEE2-AS1,intron_variant,,ENST00000488785,;WEE2-AS1,intron_variant,,ENST00000471512,;WEE2-AS1,intron_variant,,ENST00000465110,;WEE2-AS1,intron_variant,,ENST00000478332,;WEE2-AS1,intron_variant,,ENST00000462383,;WEE2-AS1,downstream_gene_variant,,ENST00000473776,;	1626	179	230	SUCCESS
MGAM	8972	.	GRCh37	7	141736006	141736006	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	53	123	0	ENST00000549489.2:c.1997C>A	p.Pro666His	p.P666H	ENST00000549489	NM_004668.2	666	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS47727.1	1997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCTGAGG	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,PROSITE_patterns:PS00707,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	17/48	.	.	.	.	.	.	.	.	COSM3634524,COSM3634523,COSM3634522	17/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.363)	.	deleterious(0)	1,1,1	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Pro666His,ENST00000475668,;MGAM,missense_variant,p.Pro666His,ENST00000549489,;MGAM,upstream_gene_variant,,ENST00000490593,;MGAM,downstream_gene_variant,,ENST00000495045,;	2092	123	174	SUCCESS
GIMAP6	474344	.	GRCh37	7	150325135	150325135	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368001704	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	69	0	ENST00000328902.5:c.551C>A	p.Ala184Asp	p.A184D	ENST00000328902	NM_024711.5	184	gCc/gAc	0	A:0.0005	.	.	.	.	T	A/D	protein_coding	YES	CCDS34778.1	551	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGGCCTGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	A:0	ENSP00000330374	.	3/3	.	.	.	.	.	.	.	.	rs368001704	3/3	PASS	ENST00000328902	Transcript	.	.	ENSG00000133561	21918	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.69)	.	GIMA6_HUMAN	GIMAP6	HGNC	.	.	UPI00001AE78F	SNV	GIMAP6,missense_variant,p.Ala184Asp,ENST00000328902,;GIMAP6,3_prime_UTR_variant,,ENST00000493969,;	768	69	91	SUCCESS
GIMAP2	26157	.	GRCh37	7	150389814	150389814	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	40	116	0	ENST00000223293.5:c.440A>T	p.His147Leu	p.H147L	ENST00000223293	NM_015660.2	147	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS5905.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCACAAGG	NONE	.	.	PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF28,hmmpanther:PTHR10903,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540	.	.	ENSP00000223293	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000223293	Transcript	.	.	ENSG00000106560	21789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.555)	.	deleterious(0)	.	GIMA2_HUMAN	GIMAP2	HGNC	.	.	UPI000006D114	SNV	GIMAP2,missense_variant,p.His147Leu,ENST00000223293,;GIMAP2,downstream_gene_variant,,ENST00000474605,;	534	116	154	SUCCESS
GBX1	2636	.	GRCh37	7	150864157	150864157	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	20	139	0	ENST00000297537.4:c.479T>C	p.Val160Ala	p.V160A	ENST00000297537	NM_001098834.1	160	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS43682.1	479	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCACTTTC	NONE	.	.	hmmpanther:PTHR24334:SF2,hmmpanther:PTHR24334	.	.	ENSP00000297537	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000297537	Transcript	.	.	ENSG00000164900	4185	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.76)	.	GBX1_HUMAN	GBX1	HGNC	.	.	UPI0000E2658B	SNV	GBX1,missense_variant,p.Val160Ala,ENST00000297537,;GBX1,non_coding_transcript_exon_variant,,ENST00000475831,;	479	139	167	SUCCESS
PAXIP1	22976	.	GRCh37	7	154760285	154760285	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs915713042	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	29	0	ENST00000397192.1:c.1626G>C	p.Gln542His	p.Q542H	ENST00000397192	NM_007349.3	542	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS47753.1	1626	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23196:SF1,hmmpanther:PTHR23196	.	.	ENSP00000384048	.	7/21	.	.	.	.	.	.	.	.	COSM206828	7/21	PASS	ENST00000404141	Transcript	.	.	ENSG00000157212	8624	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	tolerated(0.13)	1	PAXI1_HUMAN	PAXIP1	HGNC	.	.	UPI00004166F9	SNV	PAXIP1,missense_variant,p.Gln542His,ENST00000404141,;PAXIP1,missense_variant,p.Gln542His,ENST00000397192,;PAXIP1,non_coding_transcript_exon_variant,,ENST00000473219,;PAXIP1,downstream_gene_variant,,ENST00000494182,;PAXIP1,3_prime_UTR_variant,,ENST00000457196,;PAXIP1,non_coding_transcript_exon_variant,,ENST00000475066,;PAXIP1,upstream_gene_variant,,ENST00000464717,;	1781	29	35	SUCCESS
DNAJB6	10049	.	GRCh37	7	157160104	157160104	+	synonymous_variant	Silent	SNP	C	C	T	rs759982570	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	27	79	0	ENST00000262177.4:c.273C>T	p.Phe91=	p.F91=	ENST00000262177	NM_058246.3	91	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS5946.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCACATT	NONE	.	.	hmmpanther:PTHR24077:SF238,hmmpanther:PTHR24077,Gene3D:1.10.287.110,Superfamily_domains:SSF46565	.	.	ENSP00000262177	.	5/10	.	.	.	.	.	.	.	.	rs759982570	5/10	PASS	ENST00000262177	Transcript	.	.	ENSG00000105993	14888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,synonymous_variant,p.%3D,ENST00000429029,;DNAJB6,synonymous_variant,p.%3D,ENST00000441561,;DNAJB6,synonymous_variant,p.%3D,ENST00000452797,;DNAJB6,synonymous_variant,p.%3D,ENST00000412557,;DNAJB6,synonymous_variant,p.%3D,ENST00000443280,;DNAJB6,synonymous_variant,p.%3D,ENST00000417758,;DNAJB6,synonymous_variant,p.%3D,ENST00000453383,;DNAJB6,synonymous_variant,p.%3D,ENST00000262177,;DNAJB6,downstream_gene_variant,,ENST00000437030,;DNAJB6,downstream_gene_variant,,ENST00000439402,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000488001,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000486083,;DNAJB6,upstream_gene_variant,,ENST00000465908,;DNAJB6,synonymous_variant,p.%3D,ENST00000441291,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000459889,;DNAJB6,upstream_gene_variant,,ENST00000468928,;	478	79	130	SUCCESS
AC005013.1	0	.	GRCh37	7	28996188	28996188	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	47	0	ENST00000539664.1:n.1836A>T		p.*612*	ENST00000539664				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGGAGG	NONE	.	1095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436594	Transcript	.	.	ENSG00000228421	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC005013.5	Clone_based_vega_gene	.	.	.	SNV	AC005013.5,upstream_gene_variant,,ENST00000436594,;TRIL,non_coding_transcript_exon_variant,,ENST00000322982,;AC005013.1,non_coding_transcript_exon_variant,,ENST00000539664,;	.	47	75	SUCCESS
INHBA	3624	.	GRCh37	7	41729994	41729994	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	64	0	ENST00000242208.4:c.535C>G	p.Gln179Glu	p.Q179E	ENST00000242208	NM_002192.2	179	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS5464.1	535	RADIA|MUTECT|MUSE	.	CTTCTGCTGCT	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF133,Pfam_domain:PF00688	.	.	ENSP00000242208	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000242208	Transcript	.	.	ENSG00000122641	6066	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	tolerated(0.7)	.	INHBA_HUMAN	INHBA	HGNC	A4D1W7_HUMAN	.	UPI000012D421	SNV	INHBA,missense_variant,p.Gln179Glu,ENST00000442711,;INHBA,missense_variant,p.Gln179Glu,ENST00000242208,;AC005027.3,intron_variant,,ENST00000416150,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;	782	64	87	SUCCESS
INHBA	3624	.	GRCh37	7	41730010	41730010	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	53	0	ENST00000242208.4:c.519C>T	p.Ile173=	p.I173=	ENST00000242208	NM_002192.2	173	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5464.1	519	RADIA|MUTECT|MUSE	.	AGGCGGATGGT	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF133,Pfam_domain:PF00688	.	.	ENSP00000242208	.	3/3	.	.	.	.	.	.	.	.	COSM601368	3/3	PASS	ENST00000242208	Transcript	.	.	ENSG00000122641	6066	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	INHBA_HUMAN	INHBA	HGNC	A4D1W7_HUMAN	.	UPI000012D421	SNV	INHBA,synonymous_variant,p.%3D,ENST00000442711,;INHBA,synonymous_variant,p.%3D,ENST00000242208,;AC005027.3,intron_variant,,ENST00000416150,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;	766	53	76	SUCCESS
UBE2D4	51619	.	GRCh37	7	43992175	43992175	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	42	0	ENST00000222402.3:c.399-74T>C		p.*133*	ENST00000222402	NM_015983.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5474.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTGTTCT	NONE	.	.	.	.	.	ENSP00000222402	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222402	Transcript	.	.	ENSG00000078967	21647	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2D4_HUMAN	UBE2D4	HGNC	F8WCA2_HUMAN	.	UPI000007403F	SNV	UBE2D4,intron_variant,,ENST00000394798,;UBE2D4,intron_variant,,ENST00000222402,;UBE2D4,downstream_gene_variant,,ENST00000446008,;RP5-1165K10.2,non_coding_transcript_exon_variant,,ENST00000454572,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000427076,;UBE2D4,intron_variant,,ENST00000454350,;UBE2D4,intron_variant,,ENST00000491770,;UBE2D4,intron_variant,,ENST00000473007,;UBE2D4,intron_variant,,ENST00000440899,;UBE2D4,intron_variant,,ENST00000440652,;UBE2D4,intron_variant,,ENST00000450743,;UBE2D4,intron_variant,,ENST00000415051,;UBE2D4,downstream_gene_variant,,ENST00000443780,;UBE2D4,downstream_gene_variant,,ENST00000454428,;	.	42	48	SUCCESS
DDC	1644	.	GRCh37	7	50563117	50563117	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	55	0	ENST00000357936.5:c.877-2A>T		p.X293_splice	ENST00000357936	NM_000790.3	293		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5511.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGCCAA	NONE	.	.	.	.	.	ENSP00000403644	.	.	.	.	.	.	.	.	.	.	COSM601699,COSM1144573	.	PASS	ENST00000444124	Transcript	.	.	ENSG00000132437	2719	.	.	HIGH	8/14	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	DDC_HUMAN	DDC	HGNC	C9JMP0_HUMAN	.	UPI000013F150	SNV	DDC,splice_acceptor_variant,,ENST00000426377,;DDC,splice_acceptor_variant,,ENST00000380984,;DDC,splice_acceptor_variant,,ENST00000444124,;DDC,splice_acceptor_variant,,ENST00000431062,;DDC,splice_acceptor_variant,,ENST00000430300,;DDC,splice_acceptor_variant,,ENST00000357936,;DDC,splice_acceptor_variant,,ENST00000444733,;	.	55	103	SUCCESS
TNRC18	84629	.	GRCh37	7	5413683	5413683	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	58	0	ENST00000430969.1:c.3229+3A>G		p.X1077_splice	ENST00000430969	NM_001080495.2	1077		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47534.1	.	MUSE|VARSCANS	.	CATCCTACCTG	NONE	.	.	.	.	.	ENSP00000395538	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	LOW	10/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,splice_region_variant,,ENST00000430969,;TNRC18,splice_region_variant,,ENST00000399537,;TNRC18,downstream_gene_variant,,ENST00000413081,;	.	58	70	SUCCESS
EGFR	1956	.	GRCh37	7	55248998	55248999	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGGCCAGCG	rs727504263	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	122	19	103	0	ENST00000275493.2:c.2300_2308dup	p.Ala767_Val769dup	p.A767_V769dup	ENST00000275493	NM_005228.3	767	atg/aTGGCCAGCGtg	0	.	.	.	.	.	TGGCCAGCG	M/MASV	protein_coding	YES	CCDS5514.1	2296-2297	INDELOCATOR|VARSCANI	.	ACGTGATGGCC	BUFFER|p.A763_Y764insFQEA|c.2290_2291ins12|6,BUFFER|p.V765M|c.2293G>A|6,BUFFER|p.A767V|c.2300C>T|4,BUFFER|p.S768I|c.2303G>T|37,BUFFER|p.V769L|c.2305G>T|3,BUFFER|p.V769_D770insASV|c.2307_2308insGCCAGCGTG|10	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000275493	.	20/28	.	.	.	.	.	.	.	.	COSM392166	20/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	12	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	insertion	EGFR,inframe_insertion,p.Ala714_Val716dup,ENST00000454757,;EGFR,inframe_insertion,p.Ala767_Val769dup,ENST00000275493,;EGFR,inframe_insertion,p.Ala722_Val724dup,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	2473-2474	103	141	SUCCESS
EIF2AK1	27102	.	GRCh37	7	6080784	6080784	+	synonymous_variant	Silent	SNP	T	T	A	rs1327893323	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	19	99	0	ENST00000199389.6:c.858A>T	p.Pro286=	p.P286=	ENST00000199389	NM_001134335.1	286	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5345.1	858	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGGGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF88,hmmpanther:PTHR11042,SMART_domains:SM00220	.	.	ENSP00000199389	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000199389	Transcript	.	.	ENSG00000086232	24921	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E2AK1_HUMAN	EIF2AK1	HGNC	Q75MR0_HUMAN	.	UPI0000161BAE	SNV	EIF2AK1,synonymous_variant,p.%3D,ENST00000536084,;EIF2AK1,synonymous_variant,p.%3D,ENST00000199389,;ANKRD61,downstream_gene_variant,,ENST00000409061,;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000474029,;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000495565,;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000470168,;EIF2AK1,downstream_gene_variant,,ENST00000431744,;	1005	99	133	SUCCESS
ZNF679	168417	.	GRCh37	7	63726363	63726363	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	27	136	0	ENST00000255746.4:c.352A>T	p.Ser118Cys	p.S118C	ENST00000255746	NM_001159524.1	118	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS47592.1	352	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAAGTGGA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91	.	.	ENSP00000416809	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421025	Transcript	.	.	ENSG00000197123	28650	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	ZN679_HUMAN	ZNF679	HGNC	.	.	UPI000045756A	SNV	ZNF679,missense_variant,p.Ser118Cys,ENST00000255746,;ZNF679,missense_variant,p.Ser118Cys,ENST00000421025,;	621	136	212	SUCCESS
STX1A	6804	.	GRCh37	7	73118665	73118665	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	57	0	ENST00000222812.3:c.357+15T>C		p.*119*	ENST00000222812	NM_004603.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34655.1	.	MUTECT|MUSE|VARSCANS	.	CCTAGACTCCG	NONE	.	.	.	.	.	ENSP00000222812	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222812	Transcript	.	.	ENSG00000106089	11433	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STX1A_HUMAN	STX1A	HGNC	Q75ME0_HUMAN	.	UPI0000136065	SNV	WBSCR22,3_prime_UTR_variant,,ENST00000423166,;STX1A,intron_variant,,ENST00000395156,;STX1A,intron_variant,,ENST00000395155,;STX1A,intron_variant,,ENST00000222812,;STX1A,intron_variant,,ENST00000395154,;STX1A,intron_variant,,ENST00000496216,;STX1A,intron_variant,,ENST00000470878,;STX1A,upstream_gene_variant,,ENST00000480126,;STX1A,upstream_gene_variant,,ENST00000491645,;STX1A,upstream_gene_variant,,ENST00000484736,;WBSCR22,3_prime_UTR_variant,,ENST00000436944,;STX1A,non_coding_transcript_exon_variant,,ENST00000491427,;STX1A,non_coding_transcript_exon_variant,,ENST00000462135,;STX1A,intron_variant,,ENST00000494245,;STX1A,upstream_gene_variant,,ENST00000497980,;STX1A,upstream_gene_variant,,ENST00000461441,;	.	57	65	SUCCESS
PCLO	27445	.	GRCh37	7	82582621	82582621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	16	121	0	ENST00000333891.9:c.7648G>T	p.Ala2550Ser	p.A2550S	ENST00000333891	NM_033026.5	2550	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47630.1	7648	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCTGAAG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ala2550Ser,ENST00000333891,;PCLO,missense_variant,p.Ala2550Ser,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7986	121	133	SUCCESS
PCLO	27445	.	GRCh37	7	82595525	82595525	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs765390976	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	87	0	ENST00000333891.9:c.3579A>T	p.Gln1193His	p.Q1193H	ENST00000333891	NM_033026.5	1193	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47630.1	3579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTTGATC	NONE	byFrequency	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	4/25	.	.	.	.	.	.	.	.	rs765390976	4/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Gln1193His,ENST00000333891,;PCLO,missense_variant,p.Gln1193His,ENST00000423517,;PCLO,downstream_gene_variant,,ENST00000461143,;	3917	87	116	SUCCESS
PCLO	27445	.	GRCh37	7	82764329	82764329	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	14	145	0	ENST00000333891.9:c.2537T>A	p.Val846Asp	p.V846D	ENST00000333891	NM_033026.5	846	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS47630.1	2537	MUTECT|MUSE|VARSCANS	.	GGTCAACTTGT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Val846Asp,ENST00000333891,;PCLO,missense_variant,p.Val846Asp,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2875	145	173	SUCCESS
SEMA3A	10371	.	GRCh37	7	83610729	83610729	+	synonymous_variant	Silent	SNP	G	G	A	rs771077834	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	9	159	0	ENST00000265362.4:c.1560C>T	p.Tyr520=	p.Y520=	ENST00000265362	NM_006080.2	520	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS5599.1	1560	MUTECT|MUSE	.	TTCCCGTAAAT	NONE	byFrequency	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF101912,Superfamily_domains:SSF103575	.	.	ENSP00000265362	.	14/17	.	.	.	.	.	.	.	.	rs771077834	14/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1875	159	191	SUCCESS
SAMD9	54809	.	GRCh37	7	92731091	92731091	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	31	134	0	ENST00000379958.2:c.4320G>C	p.Trp1440Cys	p.W1440C	ENST00000379958	NM_017654.3	1440	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS34680.1	4320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCCAGAA	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Trp1440Cys,ENST00000379958,;SAMD9,downstream_gene_variant,,ENST00000446617,;	4590	134	162	SUCCESS
MIR489	574442	.	GRCh37	7	93113280	93113280	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	65	0	ENST00000384923.1:n.52G>A		p.*18*	ENST00000384923				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55125.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCACTCCTA	NONE	.	.	.	.	.	ENSP00000352561	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359558	Transcript	.	.	ENSG00000004948	1440	.	.	MODIFIER	4/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CALCR	HGNC	.	.	UPI0001B8380B	SNV	CALCR,intron_variant,,ENST00000421592,;CALCR,intron_variant,,ENST00000426151,;CALCR,intron_variant,,ENST00000394441,;CALCR,intron_variant,,ENST00000359558,;CALCR,intron_variant,,ENST00000360249,;MIR489,mature_miRNA_variant,,ENST00000384923,;MIR653,upstream_gene_variant,,ENST00000385279,;CALCR,intron_variant,,ENST00000415529,;CALCR,intron_variant,,ENST00000423724,;	.	65	81	SUCCESS
SGCE	8910	.	GRCh37	7	94285310	94285310	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	81	0	ENST00000265735.7:c.101T>G	p.Leu34Trp	p.L34W	ENST00000265735	NM_003919.2	34	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS47643.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAAGAAT	NONE	.	.	hmmpanther:PTHR10132:SF13,hmmpanther:PTHR10132,Pfam_domain:PF05510	.	.	ENSP00000398930	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000445866	Transcript	.	.	ENSG00000127990	10808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.03)	.	.	SGCE	HGNC	G5E9K6_HUMAN	.	UPI0000D4E987	SNV	SGCE,missense_variant,p.Leu34Trp,ENST00000447873,;SGCE,missense_variant,p.Leu34Trp,ENST00000415788,;SGCE,missense_variant,p.Leu34Trp,ENST00000445866,;SGCE,missense_variant,p.Leu34Trp,ENST00000437425,;SGCE,missense_variant,p.Leu34Trp,ENST00000265735,;SGCE,missense_variant,p.Leu34Trp,ENST00000428696,;PEG10,upstream_gene_variant,,ENST00000482108,;PEG10,upstream_gene_variant,,ENST00000488574,;PEG10,upstream_gene_variant,,ENST00000493935,;SGCE,missense_variant,p.Leu34Trp,ENST00000450385,;SGCE,missense_variant,p.Leu34Trp,ENST00000425444,;	127	82	88	SUCCESS
DLX5	1749	.	GRCh37	7	96650106	96650106	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	12	105	0	ENST00000222598.4:c.812T>A	p.Leu271Gln	p.L271Q	ENST00000222598	NM_005221.5	271	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS5647.1	812	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCAGGTGG	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF31	.	.	ENSP00000222598	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000222598	Transcript	.	.	ENSG00000105880	2918	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	DLX5_HUMAN	DLX5	HGNC	Q53Y73_HUMAN	.	UPI00001294B7	SNV	DLX5,missense_variant,p.Leu271Gln,ENST00000222598,;DLX5,downstream_gene_variant,,ENST00000486603,;DLX5,non_coding_transcript_exon_variant,,ENST00000493764,;	1286	105	106	SUCCESS
SPAG1	6674	.	GRCh37	8	101178179	101178179	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs778831024	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	30	151	0	ENST00000251809.3:c.278A>G	p.Glu93Gly	p.E93G	ENST00000251809	NM_172218.2	93	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34930.1	278	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGAAAAAA	NONE	.	.	hmmpanther:PTHR22904:SF310,hmmpanther:PTHR22904	.	.	ENSP00000373450	.	3/19	.	.	.	.	.	.	.	.	rs778831024	3/19	PASS	ENST00000388798	Transcript	1	.	ENSG00000104450	11212	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.367)	.	deleterious(0.02)	.	SPAG1_HUMAN	SPAG1	HGNC	.	.	UPI000016783D	SNV	SPAG1,missense_variant,p.Glu93Gly,ENST00000520508,;SPAG1,missense_variant,p.Glu93Gly,ENST00000388798,;SPAG1,missense_variant,p.Glu93Gly,ENST00000251809,;SPAG1,missense_variant,p.Glu93Gly,ENST00000520643,;RP11-316J7.4,upstream_gene_variant,,ENST00000517879,;	469	151	245	SUCCESS
PABPC1	26986	.	GRCh37	8	101733713	101733713	+	synonymous_variant	Silent	SNP	C	C	G	rs148248545	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	136	193	0	ENST00000318607.5:c.99G>C	p.Pro33=	p.P33=	ENST00000318607	NM_002568.3	33	ccG/ccC	0	T:0	.	.	.	.	G	P	protein_coding	YES	CCDS6289.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCGGGCT	NONE	byCluster	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF239,hmmpanther:PTHR24011,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	T:0.0002	ENSP00000313007	.	1/15	.	.	.	.	.	.	.	.	rs148248545,COSM3643308	1/15	PASS	ENST00000318607	Transcript	.	.	ENSG00000070756	8554	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PABP1_HUMAN	PABPC1	HGNC	H0YB75_HUMAN,E7EQV3_HUMAN,E5RJM8_HUMAN,E5RJB9_HUMAN,E5RHG7_HUMAN,E5RH24_HUMAN,E5RGH3_HUMAN,E5RGC4_HUMAN,E5RFD8_HUMAN	.	UPI0000000BC4	SNV	PABPC1,synonymous_variant,p.%3D,ENST00000521067,;PABPC1,synonymous_variant,p.%3D,ENST00000520142,;PABPC1,synonymous_variant,p.%3D,ENST00000522387,;PABPC1,synonymous_variant,p.%3D,ENST00000522720,;PABPC1,synonymous_variant,p.%3D,ENST00000523555,;PABPC1,synonymous_variant,p.%3D,ENST00000519363,;PABPC1,synonymous_variant,p.%3D,ENST00000521865,;PABPC1,synonymous_variant,p.%3D,ENST00000520804,;PABPC1,synonymous_variant,p.%3D,ENST00000318607,;PABPC1,intron_variant,,ENST00000519004,;PABPC1,intron_variant,,ENST00000518196,;PABPC1,upstream_gene_variant,,ENST00000519100,;PABPC1,non_coding_transcript_exon_variant,,ENST00000517921,;	1228	193	318	SUCCESS
MIR2053	100302225	.	GRCh37	8	113655796	113655796	+	mature_miRNA_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	12	69	0	ENST00000459295.1:n.75T>A		p.*25*	ENST00000459295				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE|VARSCANS	.	AAACCTCTATT	NONE	.	.	.	.	.	ENSP00000297405	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	20/70	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000455883,;CSMD3,intron_variant,,ENST00000297405,;CSMD3,intron_variant,,ENST00000339701,;CSMD3,intron_variant,,ENST00000343508,;MIR2053,mature_miRNA_variant,,ENST00000459295,;	.	69	146	SUCCESS
EXT1	2131	.	GRCh37	8	118834756	118834756	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	8	80	0	ENST00000378204.2:c.1365A>T	p.Leu455=	p.L455=	ENST00000378204	NM_000127.2	455	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6324.1	1365	MUTECT|MUSE	.	TGTGGTAGTAC	NONE	.	.	hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF45	.	.	ENSP00000367446	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378204	Transcript	1	.	ENSG00000182197	3512	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EXT1_HUMAN	EXT1	HGNC	T2FFJ4_HUMAN,S5Y321_HUMAN,D7RTA7_HUMAN	.	UPI000012A3A1	SNV	EXT1,synonymous_variant,p.%3D,ENST00000378204,;EXT1,3_prime_UTR_variant,,ENST00000437196,;	2172	80	109	SUCCESS
ADCY8	114	.	GRCh37	8	131916177	131916177	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	35	97	0	ENST00000286355.5:c.1752T>C	p.Thr584=	p.T584=	ENST00000286355	NM_001115.2	584	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS6363.1	1752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTAAGTTTC	CODON|p.T584T|c.1752T>G|3,BUFFER|p.I582I|c.1746C>T|3	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF00211,Gene3D:3.30.70.1230	.	.	ENSP00000286355	.	7/18	.	.	.	.	.	.	.	.	COSM1244474,COSM204158	7/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000522949,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;	3845	97	176	SUCCESS
TG	7038	.	GRCh37	8	133894143	133894143	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	13	80	0	ENST00000220616.4:c.674A>C	p.Gln225Pro	p.Q225P	ENST00000220616	NM_003235.4	225	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS34944.1	674	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGAGGA	NONE	.	.	PIRSF_domain:PIRSF001831,PROSITE_profiles:PS51162	.	.	ENSP00000220616	.	6/48	.	.	.	.	.	.	.	.	.	6/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.127)	.	deleterious(0)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Gln225Pro,ENST00000220616,;TG,missense_variant,p.Gln225Pro,ENST00000377869,;TG,non_coding_transcript_exon_variant,,ENST00000520769,;TG,downstream_gene_variant,,ENST00000523901,;	714	80	114	SUCCESS
COL22A1	169044	.	GRCh37	8	139727943	139727943	+	synonymous_variant	Silent	SNP	T	T	C	rs764702446	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	59	0	ENST00000303045.6:c.2499A>G	p.Lys833=	p.K833=	ENST00000303045	NM_152888.1	833	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS6376.1	2499	MUTECT|MUSE	.	TCACCTTTCAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	30/65	.	.	.	.	.	.	.	.	rs764702446	30/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,synonymous_variant,p.%3D,ENST00000303045,;COL22A1,synonymous_variant,p.%3D,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	2946	59	116	SUCCESS
DENND3	22898	.	GRCh37	8	142160957	142160957	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs531863353	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	49	72	0	ENST00000262585.2:c.520A>G	p.Ile174Val	p.I174V	ENST00000262585	NM_014957.2	174	Att/Gtt	0	.	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS34947.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATTGTG	NONE	by1000G	.	SMART_domains:SM00799,Pfam_domain:PF02141,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3,PROSITE_profiles:PS50211	G:0	.	ENSP00000262585	G:0	6/23	.	.	.	.	.	.	.	.	rs531863353	6/23	PASS	ENST00000262585	Transcript	.	G:0.0002	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	G:0.001	tolerated(0.37)	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Ile275Val,ENST00000523058,;DENND3,missense_variant,p.Ile254Val,ENST00000519811,;DENND3,missense_variant,p.Ile174Val,ENST00000424248,;DENND3,missense_variant,p.Ile176Val,ENST00000520986,;DENND3,missense_variant,p.Ile174Val,ENST00000262585,;DENND3,missense_variant,p.Ile231Val,ENST00000518668,;DENND3,non_coding_transcript_exon_variant,,ENST00000523015,;	798	72	121	SUCCESS
SLC45A4	57210	.	GRCh37	8	142221937	142221937	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	9	76	0	ENST00000024061.3:c.2142-141T>C		p.*714*	ENST00000024061	NM_001080431.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34948.1	.	MUTECT|MUSE|VARSCANS	.	TTTCTAAGTTG	NONE	.	.	.	.	.	ENSP00000024061	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,3_prime_UTR_variant,,ENST00000519067,;SLC45A4,intron_variant,,ENST00000024061,;SLC45A4,intron_variant,,ENST00000433583,;SLC45A4,intron_variant,,ENST00000517878,;	.	76	97	SUCCESS
COMMD5	28991	.	GRCh37	8	146076399	146076399	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	31	71	0	ENST00000305103.3:c.325T>G	p.Phe109Val	p.F109V	ENST00000305103	NM_014066.3	109	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS6436.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAAGGTGT	NONE	.	.	Pfam_domain:PF07258,hmmpanther:PTHR15666:SF1,hmmpanther:PTHR15666	.	.	ENSP00000394331	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000450361	Transcript	.	.	ENSG00000170619	17902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	COMD5_HUMAN	COMMD5	HGNC	E9PJE4_HUMAN	.	UPI000004A08E	SNV	COMMD5,missense_variant,p.Phe109Val,ENST00000305103,;COMMD5,missense_variant,p.Phe109Val,ENST00000450361,;COMMD5,missense_variant,p.Phe109Val,ENST00000402718,;COMMD5,missense_variant,p.Phe109Val,ENST00000533270,;COMMD5,missense_variant,p.Phe109Val,ENST00000529143,;ZNF7,downstream_gene_variant,,ENST00000325217,;ZNF7,downstream_gene_variant,,ENST00000525266,;ZNF250,downstream_gene_variant,,ENST00000543949,;AF235103.1,upstream_gene_variant,,ENST00000578937,;COMMD5,missense_variant,p.Phe55Val,ENST00000530332,;	747	71	156	SUCCESS
ADAMDEC1	27299	.	GRCh37	8	24259501	24259501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	76	0	ENST00000256412.4:c.1216A>G	p.Lys406Glu	p.K406E	ENST00000256412	NM_014479.3	406	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6044.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAAAGTGC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000256412	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000256412	Transcript	.	.	ENSG00000134028	16299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.328)	.	tolerated(0.16)	.	ADEC1_HUMAN	ADAMDEC1	HGNC	B7Z6U5_HUMAN	.	UPI0000073385	SNV	ADAMDEC1,missense_variant,p.Lys406Glu,ENST00000256412,;ADAMDEC1,missense_variant,p.Lys327Glu,ENST00000538205,;ADAMDEC1,missense_variant,p.Lys327Glu,ENST00000522298,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,upstream_gene_variant,,ENST00000519953,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	1436	76	76	SUCCESS
CSMD1	64478	.	GRCh37	8	3087715	3087715	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	13	101	0	ENST00000537824.1:c.4192del	p.Gln1398LysfsTer37	p.Q1398Kfs*37	ENST00000537824	NM_033225.5	1398	Caa/aa	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS55189.1	4192	INDELOCATOR|VARSCANI	.	CATTTTGGGGCA	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	27/70	.	.	.	.	.	.	.	.	.	27/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	deletion	CSMD1,frameshift_variant,p.Gln1399LysfsTer37,ENST00000400186,;CSMD1,frameshift_variant,p.Gln1398LysfsTer37,ENST00000542608,;CSMD1,frameshift_variant,p.Gln1399LysfsTer37,ENST00000602723,;CSMD1,frameshift_variant,p.Gln879LysfsTer37,ENST00000335551,;CSMD1,frameshift_variant,p.Gln1398LysfsTer37,ENST00000537824,;CSMD1,frameshift_variant,p.Gln1399LysfsTer37,ENST00000520002,;CSMD1,frameshift_variant,p.Gln1398LysfsTer37,ENST00000539096,;CSMD1,frameshift_variant,p.Gln1399LysfsTer37,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4192	101	146	SUCCESS
KCNU1	157855	.	GRCh37	8	36642022	36642022	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	27	87	0	ENST00000399881.3:c.94T>C	p.Phe32Leu	p.F32L	ENST00000399881	NM_001031836.2	32	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS55220.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTTTGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,missense_variant,p.Phe32Leu,ENST00000523973,;KCNU1,missense_variant,p.Phe32Leu,ENST00000399881,;KCNU1,missense_variant,p.Phe32Leu,ENST00000522372,;KCNU1,missense_variant,p.Phe32Leu,ENST00000522417,;	131	87	139	SUCCESS
LSM1	27257	.	GRCh37	8	38029501	38029501	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	15	82	0	ENST00000311351.4:c.97A>G	p.Arg33Gly	p.R33G	ENST00000311351	NM_014462.2	33	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6103.1	97	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTTAAAA	NONE	.	.	hmmpanther:PTHR15588,hmmpanther:PTHR15588:SF8,Gene3D:2.30.30.100,Pfam_domain:PF01423,SMART_domains:SM00651,Superfamily_domains:SSF50182	.	.	ENSP00000310596	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000311351	Transcript	.	.	ENSG00000175324	20472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	LSM1_HUMAN	LSM1	HGNC	.	.	UPI000012E963	SNV	LSM1,missense_variant,p.Arg33Gly,ENST00000520755,;LSM1,missense_variant,p.Arg33Gly,ENST00000311351,;BAG4,upstream_gene_variant,,ENST00000287322,;BAG4,upstream_gene_variant,,ENST00000432471,;LSM1,non_coding_transcript_exon_variant,,ENST00000520286,;LSM1,non_coding_transcript_exon_variant,,ENST00000522515,;BAG4,upstream_gene_variant,,ENST00000521282,;LSM1,missense_variant,p.Arg33Gly,ENST00000523511,;	493	82	128	SUCCESS
PRKDC	5591	.	GRCh37	8	48855847	48855847	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	22	126	0	ENST00000314191.2:c.888C>G	p.Val296=	p.V296=	ENST00000314191	NM_006904.6	296	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	.	888	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGACTTC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000313420	.	10/87	.	.	.	.	.	.	.	.	.	10/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,synonymous_variant,p.%3D,ENST00000338368,;PRKDC,synonymous_variant,p.%3D,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000535375,;	945	126	171	SUCCESS
DEFB1	1672	.	GRCh37	8	6735387	6735387	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs768655686	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	38	121	0	ENST00000297439.3:c.-8C>T		p.*3*	ENST00000297439	NM_005218.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5959.1	.	RADIA|MUTECT|MUSE	.	CGACTGGCAGG	NONE	.	.	.	.	.	ENSP00000297439	.	1/2	.	.	.	.	.	.	.	.	rs768655686	1/2	PASS	ENST00000297439	Transcript	.	.	ENSG00000164825	2766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEFB1_HUMAN	DEFB1	HGNC	.	.	UPI0000001125	SNV	DEFB1,5_prime_UTR_variant,,ENST00000297439,;GS1-24F4.2,intron_variant,,ENST00000531701,;	158	121	158	SUCCESS
TRAM1	23471	.	GRCh37	8	71520468	71520468	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs756945596	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	10	0	ENST00000262213.2:c.-34C>T		p.*12*	ENST00000262213	NM_014294.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6207.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCGCCCCG	NONE	.	.	.	.	.	ENSP00000262213	.	1/11	.	.	.	.	.	.	.	.	rs756945596	1/11	PASS	ENST00000262213	Transcript	.	.	ENSG00000067167	20568	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAM1_HUMAN	TRAM1	HGNC	G3XAN4_HUMAN,Q6FHL3_HUMAN,B4E0K2_HUMAN	.	UPI0000001C66	SNV	TRAM1,5_prime_UTR_variant,,ENST00000536748,;TRAM1,5_prime_UTR_variant,,ENST00000262213,;TRAM1,5_prime_UTR_variant,,ENST00000518678,;RP11-382J12.1,upstream_gene_variant,,ENST00000499227,;TRAM1,upstream_gene_variant,,ENST00000521425,;snoU13,downstream_gene_variant,,ENST00000459347,;TRAM1,non_coding_transcript_exon_variant,,ENST00000521049,;TRAM1,intron_variant,,ENST00000520700,;RP11-382J12.1,upstream_gene_variant,,ENST00000518553,;RP11-382J12.1,upstream_gene_variant,,ENST00000519358,;RP11-382J12.1,upstream_gene_variant,,ENST00000518152,;	137	10	38	SUCCESS
CNBD1	168975	.	GRCh37	8	88365869	88365869	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	490	29	335	0	ENST00000518476.1:c.1158A>G	p.Arg386=	p.R386=	ENST00000518476	NM_173538.2	386	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS55259.1	1158	MUTECT|MUSE	.	AAAAGATCTCA	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF124,Pfam_domain:PF00027,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000430073	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000518476	Transcript	.	.	ENSG00000176571	26663	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNBD1_HUMAN	CNBD1	HGNC	.	.	UPI000006EA68	SNV	CNBD1,synonymous_variant,p.%3D,ENST00000521593,;CNBD1,synonymous_variant,p.%3D,ENST00000523299,;CNBD1,synonymous_variant,p.%3D,ENST00000518476,;	1209	335	519	SUCCESS
MATN2	4147	.	GRCh37	8	99033508	99033508	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	19	107	0	ENST00000254898.5:c.1895A>C	p.Lys632Thr	p.K632T	ENST00000254898	NM_002380.3	632	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS55264.1	1895	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAAATGCT	NONE	.	.	hmmpanther:PTHR22992:SF17,hmmpanther:PTHR22992,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF53300	.	.	ENSP00000430487	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000520016	Transcript	.	.	ENSG00000132561	6908	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.129)	.	tolerated(0.31)	.	MATN2_HUMAN	MATN2	HGNC	E5RJM4_HUMAN	.	UPI000021037B	SNV	MATN2,missense_variant,p.Lys415Thr,ENST00000518154,;MATN2,missense_variant,p.Lys632Thr,ENST00000521689,;MATN2,missense_variant,p.Lys632Thr,ENST00000254898,;MATN2,missense_variant,p.Lys632Thr,ENST00000520016,;MATN2,missense_variant,p.Lys591Thr,ENST00000524308,;MATN2,missense_variant,p.Lys348Thr,ENST00000522025,;MATN2,intron_variant,,ENST00000517321,;RPL30,downstream_gene_variant,,ENST00000518164,;MATN2,missense_variant,p.Asn149His,ENST00000521952,;MATN2,non_coding_transcript_exon_variant,,ENST00000518370,;	2019	107	168	SUCCESS
DMRT2	10655	.	GRCh37	9	1056607	1056607	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	97	0	ENST00000358146.2:c.1020A>G	p.Arg340=	p.R340=	ENST00000358146		340	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS6444.1	1020	MUTECT|MUSE	.	TCAAGATTTTT	NONE	.	.	hmmpanther:PTHR12322:SF59,hmmpanther:PTHR12322	.	.	ENSP00000371686	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000382251	Transcript	.	.	ENSG00000173253	2935	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMRT2_HUMAN	DMRT2	HGNC	.	.	UPI000013D066	SNV	DMRT2,synonymous_variant,p.%3D,ENST00000302441,;DMRT2,synonymous_variant,p.%3D,ENST00000382251,;DMRT2,synonymous_variant,p.%3D,ENST00000358146,;DMRT2,3_prime_UTR_variant,,ENST00000259622,;DMRT2,3_prime_UTR_variant,,ENST00000382255,;DMRT2,downstream_gene_variant,,ENST00000412350,;	1349	97	81	SUCCESS
OR13C5	138799	.	GRCh37	9	107360745	107360745	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	55	0	ENST00000374779.2:c.950A>T	p.Asn317Ile	p.N317I	ENST00000374779	NM_001004482.1	317	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS35091.1	950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTTAAAA	NONE	.	.	hmmpanther:PTHR26453:SF121,hmmpanther:PTHR26453	.	.	ENSP00000363911	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374779	Transcript	.	.	ENSG00000255800	15100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.14)	.	O13C5_HUMAN	OR13C5	HGNC	.	.	UPI0000041D12	SNV	OR13C5,missense_variant,p.Asn317Ile,ENST00000374779,;	1044	55	59	SUCCESS
C5	727	.	GRCh37	9	123789473	123789473	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	38	0	ENST00000223642.1:c.838A>T	p.Lys280Ter	p.K280*	ENST00000223642	NM_001735.2	280	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS6826.1	838	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTTTGAT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83	.	.	ENSP00000223642	.	8/41	.	.	.	.	.	.	.	.	.	8/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,stop_gained,p.Lys280Ter,ENST00000223642,;C5,non_coding_transcript_exon_variant,,ENST00000460578,;	868	38	37	SUCCESS
OR1N2	138882	.	GRCh37	9	125316382	125316382	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	55	0	ENST00000373688.2:c.934A>C	p.Arg312=	p.R312=	ENST00000373688	NM_001004457.1	312	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS35123.1	934	MUTECT|MUSE|VARSCANS	.	GGAACAGAGAC	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000362792	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373688	Transcript	.	.	ENSG00000171501	15111	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR1N2_HUMAN	OR1N2	HGNC	.	.	UPI000004618C	SNV	OR1N2,synonymous_variant,p.%3D,ENST00000373688,;	992	55	52	SUCCESS
NR5A1	2516	.	GRCh37	9	127262932	127262932	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs988948243	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	65	0	ENST00000373588.4:c.307C>T	p.Arg103Trp	p.R103W	ENST00000373588	NM_004959.4	103	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6856.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGGTCCC	NONE	.	.	hmmpanther:PTHR24086:SF24,hmmpanther:PTHR24086,PIRSF_domain:PIRSF002530	.	.	ENSP00000362690	.	4/7	.	.	.	.	.	.	.	.	CM118939	4/7	PASS	ENST00000373588	Transcript	.	.	ENSG00000136931	7983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	STF1_HUMAN	NR5A1	HGNC	Q9H3V4_HUMAN,Q6QGY2_HUMAN,Q5T6F6_HUMAN,F1D8R8_HUMAN	.	UPI00001360E5	SNV	NR5A1,missense_variant,p.Arg103Trp,ENST00000455734,;NR5A1,missense_variant,p.Arg103Trp,ENST00000373588,;NR5A1,intron_variant,,ENST00000373587,;	504	65	67	SUCCESS
NUP214	8021	.	GRCh37	9	134026017	134026017	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	17	118	0	ENST00000359428.5:c.2142G>T	p.Gln714His	p.Q714H	ENST00000359428	NM_005085.3	714	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS6940.1	2142	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGAAGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	16/36	.	.	.	.	.	.	.	.	COSM421924	16/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.843)	.	.	1	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Gln715His,ENST00000451030,;NUP214,missense_variant,p.Gln714His,ENST00000359428,;NUP214,missense_variant,p.Gln704His,ENST00000411637,;NUP214,downstream_gene_variant,,ENST00000530863,;RP11-544A12.4,intron_variant,,ENST00000587264,;RP11-544A12.4,intron_variant,,ENST00000586290,;RP11-544A12.4,intron_variant,,ENST00000415391,;RP11-544A12.4,intron_variant,,ENST00000588378,;RP11-544A12.4,intron_variant,,ENST00000589667,;RP11-544A12.4,intron_variant,,ENST00000587408,;RP11-544A12.4,intron_variant,,ENST00000589540,;RP11-544A12.4,intron_variant,,ENST00000590461,;NUP214,non_coding_transcript_exon_variant,,ENST00000530630,;NUP214,non_coding_transcript_exon_variant,,ENST00000525980,;	2286	118	125	SUCCESS
WDR5	11091	.	GRCh37	9	137023062	137023062	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	95	0	ENST00000358625.3:c.952T>C	p.Ser318Pro	p.S318P	ENST00000358625	NM_017588.2	318	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6981.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTCTGCT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF308,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000351446	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000358625	Transcript	.	.	ENSG00000196363	12757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	deleterious(0)	.	WDR5_HUMAN	WDR5	HGNC	.	.	UPI00000040F5	SNV	WDR5,missense_variant,p.Ser318Pro,ENST00000358625,;WDR5,missense_variant,p.Ser318Pro,ENST00000425041,;	1123	95	83	SUCCESS
INPP5E	56623	.	GRCh37	9	139324161	139324161	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	69	0	ENST00000371712.3:c.1901G>C	p.Ser634Thr	p.S634T	ENST00000371712	NM_019892.4	634	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS7000.1	1901	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACTCTGT	NONE	.	.	.	.	.	ENSP00000360777	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000371712	Transcript	.	.	ENSG00000148384	21474	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.25)	.	INP5E_HUMAN	INPP5E	HGNC	Q2YD81_HUMAN	.	UPI000014053C	SNV	INPP5E,missense_variant,p.Ser634Thr,ENST00000371712,;	2304	69	62	SUCCESS
IFNA16	3449	.	GRCh37	9	21217203	21217203	+	synonymous_variant	Silent	SNP	A	A	G	rs372911133	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	38	201	0	ENST00000380216.1:c.102T>C	p.Asn34=	p.N34=	ENST00000380216	NM_002173.2	34	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS34996.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTATTACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,Pfam_domain:PF00143,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000369564	.	1/1	.	.	.	.	.	.	.	.	rs372911133	1/1	PASS	ENST00000380216	Transcript	.	.	ENSG00000147885	5421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFN16_HUMAN	IFNA16	HGNC	Q9UMJ2_HUMAN	.	UPI0000047763	SNV	IFNA16,synonymous_variant,p.%3D,ENST00000380216,;	108	201	185	SUCCESS
AQP3	360	.	GRCh37	9	33443076	33443076	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	42	0	ENST00000297991.4:c.374-108T>G		p.*125*	ENST00000297991	NM_004925.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6542.1	.	MUTECT|MUSE|VARSCANS	.	GCAATACTGCT	NONE	.	.	.	.	.	ENSP00000297991	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297991	Transcript	.	.	ENSG00000165272	636	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AQP3_HUMAN	AQP3	HGNC	.	.	UPI0000125D1C	SNV	AQP3,intron_variant,,ENST00000297991,;AQP3,non_coding_transcript_exon_variant,,ENST00000463983,;AQP3,non_coding_transcript_exon_variant,,ENST00000493581,;AQP3,non_coding_transcript_exon_variant,,ENST00000494313,;AQP3,intron_variant,,ENST00000473153,;	.	42	44	SUCCESS
KIF24	347240	.	GRCh37	9	34311028	34311028	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	22	120	0	ENST00000379166.2:c.317A>T	p.Asn106Ile	p.N106I	ENST00000379166	NM_194313.2	106	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS6551.2	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATTGTCA	NONE	.	.	.	.	.	ENSP00000368464	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000379166	Transcript	.	.	ENSG00000186638	19916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.06)	.	KIF24_HUMAN	KIF24	HGNC	.	.	UPI00004F9D23	SNV	KIF24,missense_variant,p.Asn106Ile,ENST00000345050,;KIF24,missense_variant,p.Asn106Ile,ENST00000379166,;KIF24,missense_variant,p.Asn106Ile,ENST00000402558,;KIF24,missense_variant,p.Asn106Ile,ENST00000379174,;	437	120	119	SUCCESS
KIAA1045	0	.	GRCh37	9	34977626	34977626	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1351388142	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	31	155	0	ENST00000242315.3:c.1094A>T	p.Glu365Val	p.E365V	ENST00000242315	NM_015297.1	365	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS43796.1	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAGCAGG	NONE	.	.	hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF556	.	.	ENSP00000242315	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000242315	Transcript	.	.	ENSG00000122733	29180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	tolerated(0.19)	.	K1045_HUMAN	KIAA1045	HGNC	.	.	UPI00001C1EB1	SNV	KIAA1045,missense_variant,p.Glu365Val,ENST00000242315,;KIAA1045,missense_variant,p.Glu365Val,ENST00000544237,;KIAA1045,non_coding_transcript_exon_variant,,ENST00000476115,;KIAA1045,upstream_gene_variant,,ENST00000440503,;	1176	155	164	SUCCESS
C9orf131	138724	.	GRCh37	9	35043491	35043491	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	86	0	ENST00000312292.5:c.865A>T	p.Arg289Trp	p.R289W	ENST00000312292	NM_203299.2	289	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6572.2	865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGAGGCCC	NONE	.	.	hmmpanther:PTHR21777	.	.	ENSP00000308279	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312292	Transcript	.	.	ENSG00000174038	31418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	deleterious(0)	.	CI131_HUMAN	C9orf131	HGNC	.	.	UPI00001605AC	SNV	C9orf131,missense_variant,p.Arg241Trp,ENST00000421362,;C9orf131,missense_variant,p.Arg289Trp,ENST00000312292,;C9orf131,missense_variant,p.Arg216Trp,ENST00000354479,;C9orf131,missense_variant,p.Arg254Trp,ENST00000378745,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000534880,;C9orf131,downstream_gene_variant,,ENST00000537671,;C9orf131,downstream_gene_variant,,ENST00000416537,;	912	86	92	SUCCESS
CDC37L1	55664	.	GRCh37	9	4701968	4701968	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	41	0	ENST00000381854.3:c.852T>G	p.Val284=	p.V284=	ENST00000381854	NM_017913.2	284	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6454.1	852	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTTCAGAA	NONE	.	.	hmmpanther:PTHR12800:SF2,hmmpanther:PTHR12800,SMART_domains:SM01070,Superfamily_domains:0044500	.	.	ENSP00000371278	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000381854	Transcript	.	.	ENSG00000106993	17179	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD37L_HUMAN	CDC37L1	HGNC	.	.	UPI000006E86C	SNV	CDC37L1,synonymous_variant,p.%3D,ENST00000381854,;CDC37L1,synonymous_variant,p.%3D,ENST00000381858,;	1054	41	38	SUCCESS
JAK2	3717	.	GRCh37	9	5069060	5069060	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	28	161	0	ENST00000381652.3:c.1365A>G	p.Thr455=	p.T455=	ENST00000381652	NM_004972.3	455	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS6457.1	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACAAAAAA	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,Gene3D:3.30.505.10,Pfam_domain:PF00017,PIRSF_domain:PIRSF000636,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000371067	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000381652	Transcript	.	.	ENSG00000096968	6192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JAK2_HUMAN	JAK2	HGNC	Q8IXP2_HUMAN,F5H5U8_HUMAN	.	UPI000012DA9E	SNV	JAK2,synonymous_variant,p.%3D,ENST00000544510,;JAK2,synonymous_variant,p.%3D,ENST00000539801,;JAK2,synonymous_variant,p.%3D,ENST00000381652,;	1859	161	157	SUCCESS
TRPM6	140803	.	GRCh37	9	77502803	77502803	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	62	0	ENST00000360774.1:c.-31G>T		p.*11*	ENST00000360774	NM_017662.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6647.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCTGTCT	NONE	.	.	.	.	.	ENSP00000354006	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,5_prime_UTR_variant,,ENST00000376871,;TRPM6,5_prime_UTR_variant,,ENST00000359047,;TRPM6,5_prime_UTR_variant,,ENST00000376872,;TRPM6,5_prime_UTR_variant,,ENST00000451710,;TRPM6,5_prime_UTR_variant,,ENST00000360774,;TRPM6,5_prime_UTR_variant,,ENST00000376864,;TRPM6,upstream_gene_variant,,ENST00000449912,;TRPM6,upstream_gene_variant,,ENST00000361255,;	208	62	68	SUCCESS
PRUNE2	158471	.	GRCh37	9	79320733	79320733	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	63	0	ENST00000376718.3:c.6457T>C	p.Phe2153Leu	p.F2153L	ENST00000376718	NM_015225.2	2153	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS47982.1	6457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAACTCCC	BUFFER|p.R2151Q|c.6452G>A|3	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.88)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Phe1475Leu,ENST00000426088,;PRUNE2,missense_variant,p.Phe2153Leu,ENST00000376718,;PRUNE2,missense_variant,p.Phe1794Leu,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	6581	63	39	SUCCESS
PTPRD	5789	.	GRCh37	9	8404601	8404601	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	106	0	ENST00000356435.5:c.4146A>T	p.Pro1382=	p.P1382=	ENST00000356435		1382	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43786.1	4146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGGTTT	NONE	.	.	Superfamily_domains:SSF52799,SMART_domains:SM00194,Pfam_domain:PF00102,Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50055	.	.	ENSP00000370593	.	33/43	.	.	.	.	.	.	.	.	.	33/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,synonymous_variant,p.%3D,ENST00000397617,;PTPRD,synonymous_variant,p.%3D,ENST00000486161,;PTPRD,synonymous_variant,p.%3D,ENST00000358503,;PTPRD,synonymous_variant,p.%3D,ENST00000360074,;PTPRD,synonymous_variant,p.%3D,ENST00000381196,;PTPRD,synonymous_variant,p.%3D,ENST00000397606,;PTPRD,synonymous_variant,p.%3D,ENST00000356435,;PTPRD,synonymous_variant,p.%3D,ENST00000355233,;PTPRD,synonymous_variant,p.%3D,ENST00000397611,;PTPRD,synonymous_variant,p.%3D,ENST00000540109,;PTPRD,synonymous_variant,p.%3D,ENST00000537002,;	4690	106	74	SUCCESS
EEF1DP2	442429	.	GRCh37	9	95599719	95599719	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	35	0	ENST00000433698.2:n.232A>T		p.*78*	ENST00000433698				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCTGTGGT	NONE	.	.	.	.	.	.	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000473204	Transcript	.	.	ENSG00000187984	22567	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ANKRD19P	HGNC	.	.	.	SNV	ANKRD19P,non_coding_transcript_exon_variant,,ENST00000473204,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000464387,;EEF1DP2,non_coding_transcript_exon_variant,,ENST00000433698,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000375504,;	1800	35	50	SUCCESS
WNK2	65268	.	GRCh37	9	95992093	95992093	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	61	0	ENST00000297954.4:c.797A>T	p.Lys266Met	p.K266M	ENST00000297954	NM_001282394.1	266	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	.	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCAAGGGCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,PROSITE_profiles:PS50011	.	.	ENSP00000297954	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Lys262Met,ENST00000432730,;WNK2,missense_variant,p.Lys252Met,ENST00000395475,;WNK2,missense_variant,p.Lys266Met,ENST00000297954,;WNK2,missense_variant,p.Lys266Met,ENST00000395477,;WNK2,missense_variant,p.Lys266Met,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,5_prime_UTR_variant,,ENST00000349097,;WNK2,5_prime_UTR_variant,,ENST00000356055,;	797	61	60	SUCCESS
WNK2	65268	.	GRCh37	9	96031166	96031166	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769311608	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	44	0	ENST00000297954.4:c.4078G>A	p.Ala1360Thr	p.A1360T	ENST00000297954	NM_001282394.1	1360	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	4078	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGCAGCC	NONE	byFrequency	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	19/30	.	.	.	.	.	.	.	.	rs769311608	19/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Ala972Thr,ENST00000349097,;WNK2,missense_variant,p.Ala1360Thr,ENST00000297954,;WNK2,intron_variant,,ENST00000432730,;WNK2,intron_variant,,ENST00000427277,;WNK2,intron_variant,,ENST00000411624,;WNK2,intron_variant,,ENST00000395475,;WNK2,intron_variant,,ENST00000356055,;WNK2,intron_variant,,ENST00000448251,;WNK2,intron_variant,,ENST00000395477,;WNK2,downstream_gene_variant,,ENST00000478583,;WNK2,downstream_gene_variant,,ENST00000462595,;	4078	44	56	SUCCESS
NXF4	55999	.	GRCh37	X	101823192	101823192	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	9	0	ENST00000360035.2:n.2945A>T		p.*982*	ENST00000360035				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GCAGCAGGGGT	NONE	.	.	.	.	.	.	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000360035	Transcript	.	.	ENSG00000196970	8074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NXF4	HGNC	.	.	.	SNV	NXF4,non_coding_transcript_exon_variant,,ENST00000360035,;NXF4,intron_variant,,ENST00000416098,;	2945	9	10	SUCCESS
RBM41	55285	.	GRCh37	X	106312542	106312542	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	86	0	ENST00000372479.3:c.1018A>T	p.Ile340Phe	p.I340F	ENST00000372479	NM_018301.3	340	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS14526.1	1018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAATTGGAG	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR16105,hmmpanther:PTHR16105:SF1,PROSITE_profiles:PS50102	.	.	ENSP00000361557	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000372479	Transcript	.	.	ENSG00000089682	25617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.725)	.	tolerated(0.06)	.	RBM41_HUMAN	RBM41	HGNC	.	.	UPI000013CC0E	SNV	RBM41,missense_variant,p.Ile340Phe,ENST00000372479,;RBM41,missense_variant,p.Ile340Phe,ENST00000372487,;RBM41,3_prime_UTR_variant,,ENST00000434854,;RBM41,downstream_gene_variant,,ENST00000203616,;RBM41,upstream_gene_variant,,ENST00000474499,;RBM41,3_prime_UTR_variant,,ENST00000495517,;	1049	86	102	SUCCESS
IRS4	8471	.	GRCh37	X	107975901	107975901	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752900509	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	71	143	0	ENST00000372129.2:c.3674C>A	p.Pro1225His	p.P1225H	ENST00000372129	NM_003604.2	1225	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS14544.1	3674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGGTCTT	NONE	byFrequency	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	rs752900509	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Pro1225His,ENST00000372129,;RP6-24A23.6,missense_variant,p.Pro6His,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	3751	143	136	SUCCESS
SEPT6	0	.	GRCh37	X	118767433	118767433	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	38	0	ENST00000343984.5:c.979A>T	p.Lys327Ter	p.K327*	ENST00000343984	NM_015129.5	327	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS14584.1	979	MUTECT|MUSE	.	CCTTTTGGCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18884:SF55,hmmpanther:PTHR18884,PIRSF_domain:PIRSF006698	.	.	ENSP00000341524	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000343984	Transcript	.	.	ENSG00000125354	15848	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEPT6_HUMAN	SEPT6	HGNC	Q541S4_HUMAN	.	UPI0000001C54	SNV	SEPT6,stop_gained,p.Lys327Ter,ENST00000394610,;SEPT6,stop_gained,p.Lys269Ter,ENST00000394616,;SEPT6,stop_gained,p.Lys327Ter,ENST00000489216,;SEPT6,stop_gained,p.Lys357Ter,ENST00000394617,;SEPT6,stop_gained,p.Lys327Ter,ENST00000354228,;SEPT6,stop_gained,p.Lys327Ter,ENST00000343984,;SEPT6,stop_gained,p.Lys327Ter,ENST00000360156,;SEPT6,stop_gained,p.Lys327Ter,ENST00000354416,;SEPT6,non_coding_transcript_exon_variant,,ENST00000481072,;SEPT6,upstream_gene_variant,,ENST00000467310,;SEPT6,intron_variant,,ENST00000460411,;	1244	38	70	SUCCESS
THOC2	57187	.	GRCh37	X	122755374	122755374	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1464658220	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	37	0	ENST00000245838.8:c.3850A>T	p.Lys1284Ter	p.K1284*	ENST00000245838	NM_001081550.1	1284	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS43988.1	3850	RADIA|MUTECT|MUSE	.	AGTCTTTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1	.	.	ENSP00000245838	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000245838	Transcript	.	.	ENSG00000125676	19073	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THOC2_HUMAN	THOC2	HGNC	.	.	UPI00001D7C42	SNV	THOC2,stop_gained,p.Lys1284Ter,ENST00000245838,;THOC2,stop_gained,p.Lys379Ter,ENST00000438358,;THOC2,stop_gained,p.Lys1169Ter,ENST00000491737,;THOC2,stop_gained,p.Lys52Ter,ENST00000441692,;THOC2,stop_gained,p.Lys1284Ter,ENST00000355725,;THOC2,upstream_gene_variant,,ENST00000416618,;THOC2,upstream_gene_variant,,ENST00000448128,;THOC2,upstream_gene_variant,,ENST00000497887,;THOC2,stop_gained,p.Lys20Ter,ENST00000432353,;THOC2,non_coding_transcript_exon_variant,,ENST00000459945,;THOC2,non_coding_transcript_exon_variant,,ENST00000464982,;THOC2,upstream_gene_variant,,ENST00000496830,;THOC2,upstream_gene_variant,,ENST00000464992,;THOC2,downstream_gene_variant,,ENST00000464161,;THOC2,upstream_gene_variant,,ENST00000464604,;	3882	37	70	SUCCESS
THOC2	57187	.	GRCh37	X	122755376	122755376	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	37	0	ENST00000245838.8:c.3848A>C	p.Glu1283Ala	p.E1283A	ENST00000245838	NM_001081550.1	1283	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS43988.1	3848	RADIA|MUTECT|MUSE	.	TCTTTTCTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1	.	.	ENSP00000245838	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000245838	Transcript	.	.	ENSG00000125676	19073	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.219)	.	tolerated(0.08)	.	THOC2_HUMAN	THOC2	HGNC	.	.	UPI00001D7C42	SNV	THOC2,missense_variant,p.Glu1283Ala,ENST00000245838,;THOC2,missense_variant,p.Glu378Ala,ENST00000438358,;THOC2,missense_variant,p.Glu1168Ala,ENST00000491737,;THOC2,missense_variant,p.Glu51Ala,ENST00000441692,;THOC2,missense_variant,p.Glu1283Ala,ENST00000355725,;THOC2,upstream_gene_variant,,ENST00000416618,;THOC2,upstream_gene_variant,,ENST00000448128,;THOC2,upstream_gene_variant,,ENST00000497887,;THOC2,missense_variant,p.Glu19Ala,ENST00000432353,;THOC2,non_coding_transcript_exon_variant,,ENST00000459945,;THOC2,non_coding_transcript_exon_variant,,ENST00000464982,;THOC2,upstream_gene_variant,,ENST00000496830,;THOC2,upstream_gene_variant,,ENST00000464992,;THOC2,downstream_gene_variant,,ENST00000464161,;THOC2,upstream_gene_variant,,ENST00000464604,;	3880	37	68	SUCCESS
DCAF12L2	340578	.	GRCh37	X	125299819	125299819	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	19	57	0	ENST00000360028.2:c.89C>T	p.Ala30Val	p.A30V	ENST00000360028		30	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43991.1	89	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8	.	.	ENSP00000441489	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000538699	Transcript	.	.	ENSG00000198354	32950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.085)	.	deleterious(0.01)	.	DC122_HUMAN	DCAF12L2	HGNC	.	.	UPI0000197594	SNV	DCAF12L2,missense_variant,p.Ala30Val,ENST00000538699,;DCAF12L2,missense_variant,p.Ala30Val,ENST00000360028,;	170	57	127	SUCCESS
CXorf64	0	.	GRCh37	X	125955396	125955396	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	95	38	1	ENST00000371125.3:c.775C>T	p.Leu259Phe	p.L259F	ENST00000371125	NM_001122716.1	259	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS48163.1	775	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCTCACT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15488	.	.	ENSP00000360166	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371125	Transcript	.	.	ENSG00000183631	34498	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.1)	.	tolerated(0.14)	.	CX064_HUMAN	CXorf64	HGNC	.	.	UPI00004A3B00	SNV	CXorf64,missense_variant,p.Leu259Phe,ENST00000371125,;	855	39	120	SUCCESS
UTP14A	10813	.	GRCh37	X	129059021	129059021	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	31	109	0	ENST00000394422.3:c.1599A>T	p.Leu533Phe	p.L533F	ENST00000394422	NM_006649.3	533	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14615.1	1599	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTAGAAGG	NONE	.	.	hmmpanther:PTHR14150:SF14,hmmpanther:PTHR14150,Pfam_domain:PF04615	.	.	ENSP00000377944	.	12/15	.	.	.	.	.	.	.	.	COSM456733	12/15	PASS	ENST00000394422	Transcript	.	.	ENSG00000156697	10665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.707)	.	tolerated(0.07)	1	UT14A_HUMAN	UTP14A	HGNC	.	.	UPI0000072A7B	SNV	UTP14A,missense_variant,p.Leu533Phe,ENST00000394422,;UTP14A,missense_variant,p.Leu365Phe,ENST00000371042,;UTP14A,missense_variant,p.Leu479Phe,ENST00000371051,;UTP14A,missense_variant,p.Leu481Phe,ENST00000425117,;UTP14A,downstream_gene_variant,,ENST00000427972,;RP4-537K23.4,intron_variant,,ENST00000432062,;UTP14A,downstream_gene_variant,,ENST00000498179,;	1627	110	222	SUCCESS
USP26	83844	.	GRCh37	X	132161579	132161579	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	54	0	ENST00000370832.1:c.670T>C	p.Leu224=	p.L224=	ENST00000370832	NM_031907.1	224	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS14635.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAACTTCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24006:SF379,hmmpanther:PTHR24006	.	.	ENSP00000423390	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000511190	Transcript	.	.	ENSG00000134588	13485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP26_HUMAN	USP26	HGNC	.	.	UPI00000421FD	SNV	USP26,synonymous_variant,p.%3D,ENST00000406273,;USP26,synonymous_variant,p.%3D,ENST00000511190,;USP26,synonymous_variant,p.%3D,ENST00000370832,;	1140	54	104	SUCCESS
FHL1	2273	.	GRCh37	X	135291566	135291566	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	47	0	ENST00000345434.3:c.853A>G	p.Arg285Gly	p.R285G	ENST00000345434		285	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS55507.1	853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGAAAA	NONE	.	.	.	.	.	ENSP00000377710	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000394155	Transcript	.	.	ENSG00000022267	3702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious_low_confidence(0.02)	.	FHL1_HUMAN	FHL1	HGNC	Q5JXI3_HUMAN,Q5JXI0_HUMAN,Q5JXH9_HUMAN,Q5JXH8_HUMAN,Q5JXH7_HUMAN	.	UPI000007089A	SNV	FHL1,missense_variant,p.Arg285Gly,ENST00000345434,;FHL1,missense_variant,p.Arg285Gly,ENST00000394155,;FHL1,intron_variant,,ENST00000370690,;FHL1,intron_variant,,ENST00000539015,;FHL1,intron_variant,,ENST00000370676,;FHL1,intron_variant,,ENST00000543669,;FHL1,intron_variant,,ENST00000370674,;FHL1,intron_variant,,ENST00000370683,;FHL1,intron_variant,,ENST00000535737,;FHL1,intron_variant,,ENST00000394153,;FHL1,downstream_gene_variant,,ENST00000420362,;FHL1,downstream_gene_variant,,ENST00000449474,;MAP7D3,downstream_gene_variant,,ENST00000370661,;FHL1,downstream_gene_variant,,ENST00000458357,;FHL1,downstream_gene_variant,,ENST00000452016,;FHL1,downstream_gene_variant,,ENST00000456445,;FHL1,downstream_gene_variant,,ENST00000434885,;FHL1,downstream_gene_variant,,ENST00000477080,;FHL1,downstream_gene_variant,,ENST00000477204,;	1182	47	92	SUCCESS
BRS3	680	.	GRCh37	X	135570516	135570516	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	39	86	0	ENST00000370648.3:c.243T>A	p.Val81=	p.V81=	ENST00000370648	NM_001727.1	81	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14656.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTCCAAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24243:SF54,hmmpanther:PTHR24243,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000359682	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370648	Transcript	.	.	ENSG00000102239	1113	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRS3_HUMAN	BRS3	HGNC	.	.	UPI00000503EE	SNV	BRS3,synonymous_variant,p.%3D,ENST00000370648,;Z97632.1,downstream_gene_variant,,ENST00000580943,;	471	86	182	SUCCESS
SPANXC	64663	.	GRCh37	X	140335688	140335688	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201591692	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	424	70	217	1	ENST00000358993.2:c.256G>A	p.Glu86Lys	p.E86K	ENST00000358993	NM_022661.2	86	Gaa/Aaa	0	T:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS14673.1	256	RADIA|MUSE|VARSCANS	.	GAATTCCTCCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23425:SF1,hmmpanther:PTHR23425,Pfam_domain:PF07458	.	T:0.0002	ENSP00000351884	.	2/2	.	.	.	.	.	.	.	.	rs201591692,COSM1740825	2/2	PASS	ENST00000358993	Transcript	.	.	ENSG00000198573	14331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.973)	.	deleterious_low_confidence(0)	0,1	SPNXC_HUMAN	SPANXC	HGNC	.	.	UPI000003B20F	SNV	SPANXC,missense_variant,p.Glu86Lys,ENST00000358993,;	295	218	494	SUCCESS
PHEX	5251	.	GRCh37	X	22231054	22231054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	60	168	0	ENST00000379374.4:c.1679T>C	p.Phe560Ser	p.F560S	ENST00000379374	NM_000444.4	560	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS14204.1	1679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTTTGGG	NONE	.	.	Prints_domain:PR00786,Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF117,hmmpanther:PTHR11733	.	.	ENSP00000368682	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000379374	Transcript	.	.	ENSG00000102174	8918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.691)	.	deleterious(0)	.	PHEX_HUMAN	PHEX	HGNC	D1LZJ7_HUMAN,B4DWG8_HUMAN	.	UPI0000033C42	SNV	PHEX,missense_variant,p.Phe560Ser,ENST00000379374,;PHEX,missense_variant,p.Phe463Ser,ENST00000535894,;PHEX,missense_variant,p.Phe263Ser,ENST00000418858,;PHEX,missense_variant,p.Phe560Ser,ENST00000537599,;	2244	168	189	SUCCESS
CXorf36	0	.	GRCh37	X	45060101	45060101	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	32	0	ENST00000398000.2:c.-30A>G		p.*10*	ENST00000398000	NM_176819.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48096.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTGGCTG	NONE	.	.	.	.	.	ENSP00000381086	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	SNV	CXorf36,5_prime_UTR_variant,,ENST00000377934,;CXorf36,5_prime_UTR_variant,,ENST00000398000,;RP11-342D14.1,intron_variant,,ENST00000438181,;RP11-342D14.1,intron_variant,,ENST00000450527,;	46	32	37	SUCCESS
WDR45	11152	.	GRCh37	X	48935320	48935320	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	62	0	ENST00000376372.3:c.217A>T	p.Lys73Ter	p.K73*	ENST00000376372	NM_001029896.1	73	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS14318.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTTGGGAC	NONE	.	.	hmmpanther:PTHR11227:SF26,hmmpanther:PTHR11227,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000348848	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000356463	Transcript	.	.	ENSG00000196998	28912	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPI4_HUMAN	WDR45	HGNC	C9J7Q8_HUMAN	.	UPI000035B01F	SNV	WDR45,stop_gained,p.Lys30Ter,ENST00000367375,;WDR45,stop_gained,p.Lys73Ter,ENST00000419567,;WDR45,stop_gained,p.Lys73Ter,ENST00000322995,;WDR45,stop_gained,p.Lys73Ter,ENST00000396681,;WDR45,stop_gained,p.Lys73Ter,ENST00000376372,;WDR45,stop_gained,p.Lys73Ter,ENST00000473974,;WDR45,stop_gained,p.Lys73Ter,ENST00000465382,;WDR45,stop_gained,p.Lys73Ter,ENST00000356463,;WDR45,stop_gained,p.Lys73Ter,ENST00000376368,;WDR45,stop_gained,p.Lys73Ter,ENST00000474053,;WDR45,stop_gained,p.Lys73Ter,ENST00000471338,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000476728,;WDR45,intron_variant,,ENST00000485908,;WDR45,intron_variant,,ENST00000553851,;WDR45,intron_variant,,ENST00000475880,;WDR45,upstream_gene_variant,,ENST00000475977,;WDR45,upstream_gene_variant,,ENST00000486337,;PRAF2,upstream_gene_variant,,ENST00000376390,;WDR45,downstream_gene_variant,,ENST00000423215,;PRAF2,upstream_gene_variant,,ENST00000376386,;RNU4-52P,upstream_gene_variant,,ENST00000384209,;WDR45,intron_variant,,ENST00000465431,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,non_coding_transcript_exon_variant,,ENST00000376357,;WDR45,non_coding_transcript_exon_variant,,ENST00000465806,;WDR45,non_coding_transcript_exon_variant,,ENST00000496803,;WDR45,upstream_gene_variant,,ENST00000480412,;WDR45,upstream_gene_variant,,ENST00000433252,;WDR45,upstream_gene_variant,,ENST00000472654,;	656	62	71	SUCCESS
ALAS2	212	.	GRCh37	X	55052401	55052401	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	62	0	ENST00000330807.5:c.33C>T	p.Cys11=	p.C11=	ENST00000330807	NM_000032.4	11	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS14366.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGCAGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,Pfam_domain:PF09029,Gene3D:1h7dA00,hmmpanther:PTHR13693:SF58,hmmpanther:PTHR13693	.	.	ENSP00000332369	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000330807	Transcript	.	.	ENSG00000158578	397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEM0_HUMAN	ALAS2	HGNC	Q9H366_HUMAN,Q6QNT2_HUMAN	.	UPI000012C3FE	SNV	ALAS2,synonymous_variant,p.%3D,ENST00000396198,;ALAS2,synonymous_variant,p.%3D,ENST00000335854,;ALAS2,synonymous_variant,p.%3D,ENST00000330807,;ALAS2,intron_variant,,ENST00000455688,;ALAS2,non_coding_transcript_exon_variant,,ENST00000463868,;ALAS2,non_coding_transcript_exon_variant,,ENST00000493869,;ALAS2,intron_variant,,ENST00000477869,;	171	62	52	SUCCESS
KLF8	11279	.	GRCh37	X	56295811	56295811	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	24	0	ENST00000468660.1:c.647T>A	p.Val216Glu	p.V216E	ENST00000468660	NM_007250.4	216	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS14373.1	647	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTAGTGAAAG	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF150	.	.	ENSP00000417303	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000468660	Transcript	.	.	ENSG00000102349	6351	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	KLF8_HUMAN	KLF8	HGNC	.	.	UPI000012DED7	SNV	KLF8,missense_variant,p.Val216Glu,ENST00000374928,;KLF8,missense_variant,p.Val216Glu,ENST00000468660,;KLF8,splice_region_variant,,ENST00000358094,;KLF8,non_coding_transcript_exon_variant,,ENST00000462627,;KLF8,downstream_gene_variant,,ENST00000476898,;	935	24	34	SUCCESS
ABCC2	1244	.	GRCh37	10	101590535	101590535	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	46	157	0	ENST00000370449.4:c.2810A>G	p.Asn937Ser	p.N937S	ENST00000370449	NM_000392.3	937	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7484.1	2810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAATAGCC	NONE	.	.	hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957	.	.	ENSP00000359478	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000370449	Transcript	1	.	ENSG00000023839	53	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.93)	.	MRP2_HUMAN	ABCC2	HGNC	.	.	UPI000013D6CA	SNV	ABCC2,missense_variant,p.Asn937Ser,ENST00000370449,;	2923	157	90	SUCCESS
PKD2L1	9033	.	GRCh37	10	102054310	102054310	+	synonymous_variant	Silent	SNP	G	G	A	rs148570260	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	45	137	0	ENST00000318222.3:c.1641C>T	p.Phe547=	p.F547=	ENST00000318222	NM_016112.2	547	ttC/ttT	0	A:0.0002	.	.	.	.	A	F	protein_coding	YES	CCDS7492.1	1641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGAAGAA	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105,Pfam_domain:PF08016,Superfamily_domains:SSF81324,Prints_domain:PR01433	.	A:0	ENSP00000325296	.	9/16	.	.	.	.	.	.	.	.	rs148570260	9/16	PASS	ENST00000318222	Transcript	.	.	ENSG00000107593	9011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK2L1_HUMAN	PKD2L1	HGNC	.	.	UPI0000130FED	SNV	PKD2L1,synonymous_variant,p.%3D,ENST00000318222,;PKD2L1,synonymous_variant,p.%3D,ENST00000353274,;PKD2L1,synonymous_variant,p.%3D,ENST00000338519,;PKD2L1,intron_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;	2024	137	118	SUCCESS
PTCHD3	374308	.	GRCh37	10	27702854	27702854	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	62	0	ENST00000438700.3:c.326G>A	p.Arg109Lys	p.R109K	ENST00000438700	NM_001034842.3	109	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS31173.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCTGCAG	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60	.	.	ENSP00000417658	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000438700	Transcript	.	.	ENSG00000182077	24776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.93)	.	PTHD3_HUMAN	PTCHD3	HGNC	I0CMK0_HUMAN	.	UPI000004E892	SNV	PTCHD3,missense_variant,p.Arg109Lys,ENST00000438700,;	444	62	36	SUCCESS
WDFY4	57705	.	GRCh37	10	50085112	50085112	+	synonymous_variant	Silent	SNP	G	G	A	rs916800767	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	121	0	ENST00000325239.5:c.7035G>A	p.Pro2345=	p.P2345=	ENST00000325239	NM_020945.1	2345	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS44385.1	7035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGGACGA	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	42/61	.	.	.	.	.	.	.	.	.	42/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;RP11-563N6.6,upstream_gene_variant,,ENST00000423256,;	7062	121	76	SUCCESS
UNC5B	219699	.	GRCh37	10	73050696	73050696	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs533838225	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	65	0	ENST00000335350.6:c.1124C>T	p.Ala375Val	p.A375V	ENST00000335350	NM_170744.4	375	gCg/gTg	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS7309.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGCGCTGT	NONE	by1000G	.	hmmpanther:PTHR12582:SF6,hmmpanther:PTHR12582	T:0	.	ENSP00000334329	T:0	9/17	.	.	.	.	.	.	.	.	rs533838225,COSM2160746	9/17	PASS	ENST00000335350	Transcript	.	T:0.0002	ENSG00000107731	12568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	T:0.001	deleterious(0.04)	0,1	UNC5B_HUMAN	UNC5B	HGNC	.	.	UPI000000D753	SNV	UNC5B,missense_variant,p.Ala375Val,ENST00000335350,;UNC5B,missense_variant,p.Ala364Val,ENST00000373192,;	1540	65	41	SUCCESS
ENTPD1-AS1	728558	.	GRCh37	10	97516040	97516040	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	112	269	0	ENST00000416301.1:n.1164A>T		p.*388*	ENST00000416301				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53556.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAATCCTTA	NONE	.	.	.	.	.	ENSP00000360250	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371207	Transcript	1	.	ENSG00000138185	3363	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP1_HUMAN	ENTPD1	HGNC	.	.	UPI0000EE3B3A	SNV	ENTPD1,intron_variant,,ENST00000453258,;ENTPD1,intron_variant,,ENST00000371205,;ENTPD1,intron_variant,,ENST00000539125,;ENTPD1,intron_variant,,ENST00000543964,;ENTPD1,intron_variant,,ENST00000371203,;ENTPD1,intron_variant,,ENST00000371207,;ENTPD1-AS1,non_coding_transcript_exon_variant,,ENST00000416301,;ENTPD1,intron_variant,,ENST00000483213,;	.	269	244	SUCCESS
ATM	472	.	GRCh37	11	108124684	108124684	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1060501585	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	60	0	ENST00000278616.4:c.2042C>G	p.Ser681Cys	p.S681C	ENST00000278616	NM_000051.3	681	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS31669.1	2042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCTGTCC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	13/63	.	.	.	.	.	.	.	.	.	13/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	deleterious(0.02)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Ser681Cys,ENST00000278616,;ATM,missense_variant,p.Ser681Cys,ENST00000527805,;ATM,missense_variant,p.Ser681Cys,ENST00000452508,;ATM,non_coding_transcript_exon_variant,,ENST00000533526,;ATM,non_coding_transcript_exon_variant,,ENST00000525012,;	2427	60	41	SUCCESS
C2CD2L	9854	.	GRCh37	11	118984970	118984970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	83	0	ENST00000336702.3:c.1807G>A	p.Glu603Lys	p.E603K	ENST00000336702	NM_014807.3	603	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8413.1	1807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGAGACA	NONE	.	.	hmmpanther:PTHR21119:SF4,hmmpanther:PTHR21119	.	.	ENSP00000338885	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000336702	Transcript	.	.	ENSG00000172375	29000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	deleterious(0.05)	.	C2C2L_HUMAN	C2CD2L	HGNC	.	.	UPI0000192105	SNV	C2CD2L,missense_variant,p.Glu350Lys,ENST00000528586,;C2CD2L,missense_variant,p.Glu603Lys,ENST00000336702,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000525598,;C2CD2L,downstream_gene_variant,,ENST00000529874,;C2CD2L,downstream_gene_variant,,ENST00000533458,;	2166	83	55	SUCCESS
USP2	9099	.	GRCh37	11	119243702	119243707	+	inframe_deletion	In_Frame_Del	DEL	GGGGTC	GGGGTC	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	GGGGTC	GGGGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	73	0	ENST00000260187.2:c.484_489del	p.Asp162_Pro163del	p.D162_P163del	ENST00000260187	NM_004205.4	162	GACCCC/-	0	.	.	.	.	.	-	DP/-	protein_coding	YES	CCDS8422.1	484-489	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCCTGGGGTCTATCC	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396	.	.	ENSP00000260187	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000260187	Transcript	.	.	ENSG00000036672	12618	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP2_HUMAN	USP2	HGNC	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN	.	UPI00001379D8	deletion	USP2,inframe_deletion,p.Asp162_Pro163del,ENST00000531070,;USP2,inframe_deletion,p.Asp162_Pro163del,ENST00000260187,;USP2,intron_variant,,ENST00000455332,;USP2,downstream_gene_variant,,ENST00000527843,;RP11-334E6.3,non_coding_transcript_exon_variant,,ENST00000530918,;	779-784	73	55	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123477353	123477353	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	77	0	ENST00000529750.1:c.931G>C	p.Gly311Arg	p.G311R	ENST00000529750	NM_020716.1	311	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS53720.1	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGGAGAC	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.51)	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,missense_variant,p.Gly311Arg,ENST00000322282,;GRAMD1B,missense_variant,p.Gly318Arg,ENST00000456860,;GRAMD1B,missense_variant,p.Gly307Arg,ENST00000534764,;GRAMD1B,missense_variant,p.Gly271Arg,ENST00000529432,;GRAMD1B,missense_variant,p.Gly311Arg,ENST00000529750,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;	1258	77	58	SUCCESS
ACRV1	56	.	GRCh37	11	125546342	125546342	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	65	0	ENST00000533904.1:c.585T>C	p.Tyr195=	p.Y195=	ENST00000533904		195	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS8460.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATATAAGC	NONE	.	.	hmmpanther:PTHR17571,hmmpanther:PTHR17571:SF31	.	.	ENSP00000432816	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000533904	Transcript	.	.	ENSG00000134940	127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPX_HUMAN	ACRV1	HGNC	.	.	UPI000012615C	SNV	ACRV1,synonymous_variant,p.%3D,ENST00000425431,;ACRV1,synonymous_variant,p.%3D,ENST00000527795,;ACRV1,synonymous_variant,p.%3D,ENST00000453509,;ACRV1,synonymous_variant,p.%3D,ENST00000530048,;ACRV1,synonymous_variant,p.%3D,ENST00000533904,;ACRV1,synonymous_variant,p.%3D,ENST00000445562,;ACRV1,synonymous_variant,p.%3D,ENST00000315608,;ACRV1,synonymous_variant,p.%3D,ENST00000348856,;ACRV1,intron_variant,,ENST00000353070,;ACRV1,intron_variant,,ENST00000345274,;CHEK1,downstream_gene_variant,,ENST00000428830,;CHEK1,downstream_gene_variant,,ENST00000498122,;	928	65	59	SUCCESS
IGSF9B	22997	.	GRCh37	11	133792580	133792580	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	37	1	ENST00000321016.8:c.2165C>A	p.Pro722His	p.P722H	ENST00000321016		722	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS61010.1	2165	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGGCCGC	NONE	.	.	hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489	.	.	ENSP00000436552	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Pro722His,ENST00000533871,;IGSF9B,missense_variant,p.Pro722His,ENST00000321016,;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,;	2396	38	24	SUCCESS
JAM3	83700	.	GRCh37	11	134018452	134018452	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	48	124	0	ENST00000299106.4:c.723del	p.Asn241LysfsTer18	p.N241Kfs*18	ENST00000299106		241	aaC/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS8494.2	723	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGAACATTGG	NONE	.	.	hmmpanther:PTHR12231:SF5,hmmpanther:PTHR12231	.	.	ENSP00000299106	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000299106	Transcript	.	.	ENSG00000166086	15532	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JAM3_HUMAN	JAM3	HGNC	.	.	UPI0000034063	deletion	JAM3,frameshift_variant,p.Asn190LysfsTer18,ENST00000441717,;JAM3,frameshift_variant,p.Asn286LysfsTer18,ENST00000529443,;JAM3,frameshift_variant,p.Asn241LysfsTer18,ENST00000299106,;NCAPD3,downstream_gene_variant,,ENST00000534548,;JAM3,downstream_gene_variant,,ENST00000534549,;JAM3,downstream_gene_variant,,ENST00000524969,;JAM3,downstream_gene_variant,,ENST00000532165,;NCAPD3,downstream_gene_variant,,ENST00000526787,;JAM3,non_coding_transcript_exon_variant,,ENST00000533711,;JAM3,downstream_gene_variant,,ENST00000531302,;JAM3,downstream_gene_variant,,ENST00000532252,;NCAPD3,downstream_gene_variant,,ENST00000525964,;NCAPD3,downstream_gene_variant,,ENST00000534532,;	882	124	149	SUCCESS
PLEKHA7	144100	.	GRCh37	11	16863238	16863238	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200394760	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	48	0	ENST00000355661.3:c.728A>G	p.Tyr243Cys	p.Y243C	ENST00000355661		243	tAt/tGt	0	C:0	.	.	.	.	C	Y/C	protein_coding	YES	CCDS31434.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATAGATG	NONE	byCluster	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752,PROSITE_profiles:PS50003	.	C:0.0005	ENSP00000347883	.	9/23	.	.	.	.	.	.	.	.	rs200394760	9/23	PASS	ENST00000355661	Transcript	.	.	ENSG00000166689	27049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.02)	.	PKHA7_HUMAN	PLEKHA7	HGNC	E9PL74_HUMAN,E9PIK1_HUMAN	.	UPI0000456498	SNV	PLEKHA7,missense_variant,p.Tyr243Cys,ENST00000448080,;PLEKHA7,missense_variant,p.Tyr243Cys,ENST00000531066,;PLEKHA7,missense_variant,p.Tyr243Cys,ENST00000355661,;PLEKHA7,intron_variant,,ENST00000532079,;RN7SKP90,upstream_gene_variant,,ENST00000363013,;	739	48	35	SUCCESS
API5	8539	.	GRCh37	11	43340327	43340327	+	synonymous_variant	Silent	SNP	C	C	T	rs1179452323	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	25	0	ENST00000531273.1:c.207C>T	p.Asp69=	p.D69=	ENST00000531273		69	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS44572.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGACCTCTG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF05918,hmmpanther:PTHR12758	.	.	ENSP00000431391	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000531273	Transcript	.	.	ENSG00000166181	594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	API5_HUMAN	API5	HGNC	.	.	UPI0000E229DE	SNV	API5,synonymous_variant,p.%3D,ENST00000455725,;API5,synonymous_variant,p.%3D,ENST00000534695,;API5,synonymous_variant,p.%3D,ENST00000378852,;API5,synonymous_variant,p.%3D,ENST00000534600,;API5,synonymous_variant,p.%3D,ENST00000531273,;API5,intron_variant,,ENST00000420461,;API5,upstream_gene_variant,,ENST00000526394,;API5,non_coding_transcript_exon_variant,,ENST00000530300,;	346	25	34	SUCCESS
SPCS2	9789	.	GRCh37	11	74687909	74687909	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775641750	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	99	336	0	ENST00000263672.6:c.502G>A	p.Asp168Asn	p.D168N	ENST00000263672	NM_014752.2	168	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44681.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGACAAA	NONE	.	.	hmmpanther:PTHR13085:SF0,hmmpanther:PTHR13085,Pfam_domain:PF06703	.	.	ENSP00000263672	.	5/5	.	.	.	.	.	.	.	.	rs775641750	5/5	PASS	ENST00000263672	Transcript	.	.	ENSG00000118363	28962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	tolerated(0.05)	.	SPCS2_HUMAN	SPCS2	HGNC	.	.	UPI0000135D6A	SNV	SPCS2,missense_variant,p.Asp29Asn,ENST00000526361,;SPCS2,missense_variant,p.Asp199Asn,ENST00000532972,;SPCS2,missense_variant,p.Asp99Asn,ENST00000530257,;SPCS2,missense_variant,p.Asp168Asn,ENST00000263672,;SPCS2,non_coding_transcript_exon_variant,,ENST00000527225,;SPCS2,intron_variant,,ENST00000528265,;	541	336	285	SUCCESS
C11orf16	56673	.	GRCh37	11	8950997	8950997	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1425269327	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	97	0	ENST00000326053.5:c.251C>T	p.Ala84Val	p.A84V	ENST00000326053	NM_020643.2	84	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7794.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGCAGCA	NONE	.	.	hmmpanther:PTHR14343	.	.	ENSP00000318999	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000326053	Transcript	.	.	ENSG00000176029	1169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	tolerated(0.1)	.	CK016_HUMAN	C11orf16	HGNC	.	.	UPI0000456489	SNV	C11orf16,missense_variant,p.Ala84Val,ENST00000326053,;C11orf16,missense_variant,p.Ala84Val,ENST00000526227,;C11orf16,missense_variant,p.Ala84Val,ENST00000525780,;C11orf16,intron_variant,,ENST00000528998,;C11orf16,missense_variant,p.Ala84Val,ENST00000528830,;C11orf16,non_coding_transcript_exon_variant,,ENST00000527607,;	358	97	66	SUCCESS
FAR2	55711	.	GRCh37	12	29460716	29460716	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	61	0	ENST00000182377.4:c.671T>C	p.Ile224Thr	p.I224T	ENST00000182377	NM_018099.4	224	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS8717.1	671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATTGCCA	NONE	.	.	Superfamily_domains:SSF51735,Pfam_domain:PF07993,Gene3D:3.40.50.720,hmmpanther:PTHR11011:SF23,hmmpanther:PTHR11011	.	.	ENSP00000443291	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000536681	Transcript	.	.	ENSG00000064763	25531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.243)	.	tolerated(0.09)	.	FACR2_HUMAN	FAR2	HGNC	F8VV73_HUMAN,F8VPF2_HUMAN	.	UPI0000041260	SNV	FAR2,missense_variant,p.Ile127Thr,ENST00000547116,;FAR2,missense_variant,p.Ile224Thr,ENST00000536681,;FAR2,missense_variant,p.Ile224Thr,ENST00000182377,;RP11-996F15.2,intron_variant,,ENST00000553105,;FAR2,3_prime_UTR_variant,,ENST00000552137,;	917	61	54	SUCCESS
STAC3	246329	.	GRCh37	12	57642930	57642930	+	synonymous_variant	Silent	SNP	C	C	T	rs1185130762	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	53	0	ENST00000332782.2:c.228G>A	p.Glu76=	p.E76=	ENST00000332782	NM_145064.1	76	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8936.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15135:SF2,hmmpanther:PTHR15135,Prints_domain:PR00499	.	.	ENSP00000329200	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000332782	Transcript	.	.	ENSG00000185482	28423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAC3_HUMAN	STAC3	HGNC	G3V5D4_HUMAN,B4DUK9_HUMAN	.	UPI000006E4D3	SNV	STAC3,synonymous_variant,p.%3D,ENST00000332782,;STAC3,synonymous_variant,p.%3D,ENST00000553489,;STAC3,synonymous_variant,p.%3D,ENST00000554578,;STAC3,intron_variant,,ENST00000546246,;R3HDM2,downstream_gene_variant,,ENST00000413953,;R3HDM2,downstream_gene_variant,,ENST00000402412,;R3HDM2,downstream_gene_variant,,ENST00000347140,;R3HDM2,downstream_gene_variant,,ENST00000358907,;STAC3,non_coding_transcript_exon_variant,,ENST00000553294,;STAC3,intron_variant,,ENST00000557176,;R3HDM2,downstream_gene_variant,,ENST00000393811,;STAC3,upstream_gene_variant,,ENST00000554003,;RP11-123K3.4,downstream_gene_variant,,ENST00000548184,;	430	53	40	SUCCESS
XPOT	11260	.	GRCh37	12	64813856	64813856	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1425244853	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	49	0	ENST00000332707.5:c.496C>T	p.Arg166Cys	p.R166C	ENST00000332707	NM_007235.4	166	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS31852.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCGTAGG	NONE	.	.	hmmpanther:PTHR15952,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000327821	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000332707	Transcript	.	.	ENSG00000184575	12826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0.04)	.	XPOT_HUMAN	XPOT	HGNC	F8WDU6_HUMAN,F5GYW6_HUMAN	.	UPI0000161BA5	SNV	XPOT,missense_variant,p.Arg166Cys,ENST00000332707,;XPOT,missense_variant,p.Arg166Cys,ENST00000400935,;XPOT,upstream_gene_variant,,ENST00000538086,;XPOT,downstream_gene_variant,,ENST00000540203,;XPOT,upstream_gene_variant,,ENST00000542958,;	1025	49	38	SUCCESS
KBTBD6	89890	.	GRCh37	13	41705671	41705671	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	62	207	0	ENST00000379485.1:c.977C>G	p.Ser326Cys	p.S326C	ENST00000379485	NM_152903.4	326	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS9376.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGAGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF132	.	.	ENSP00000368799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379485	Transcript	.	.	ENSG00000165572	25340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.08)	.	KBTB6_HUMAN	KBTBD6	HGNC	.	.	UPI00001969BB	SNV	KBTBD6,missense_variant,p.Ser326Cys,ENST00000379485,;KBTBD6,missense_variant,p.Ser260Cys,ENST00000499385,;	1212	207	160	SUCCESS
TEP1	7011	.	GRCh37	14	20851711	20851711	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	99	0	ENST00000262715.5:c.3803del	p.Ala1268ValfsTer4	p.A1268Vfs*4	ENST00000262715	NM_007110.4	1268	gCt/gt	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS9548.1	3803	INDELOCATOR*|VARSCANI*|PINDEL	.	CTATCAGCCCCA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF05729,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50837	.	.	ENSP00000262715	.	26/55	.	.	.	.	.	.	.	.	.	26/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	deletion	TEP1,frameshift_variant,p.Ala1160ValfsTer4,ENST00000556935,;TEP1,frameshift_variant,p.Ala1268ValfsTer4,ENST00000262715,;TEP1,upstream_gene_variant,,ENST00000545983,;TEP1,frameshift_variant,p.Ala1268ValfsTer4,ENST00000555727,;TEP1,frameshift_variant,p.Ala618ValfsTer4,ENST00000555008,;TEP1,upstream_gene_variant,,ENST00000557314,;	3844	99	122	SUCCESS
HECTD1	25831	.	GRCh37	14	31576900	31576900	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	66	0	ENST00000399332.1:c.6491T>C	p.Leu2164Ser	p.L2164S	ENST00000399332	NM_015382.2	2164	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS41939.1	6491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTAAAAAT	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50237,Low_complexity_(Seg):seg	.	.	ENSP00000382269	.	37/43	.	.	.	.	.	.	.	.	.	37/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0.05)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Leu530Ser,ENST00000554882,;HECTD1,missense_variant,p.Leu2164Ser,ENST00000399332,;HECTD1,missense_variant,p.Leu2164Ser,ENST00000553700,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;HECTD1,upstream_gene_variant,,ENST00000557695,;HECTD1,downstream_gene_variant,,ENST00000555311,;RPL21P5,downstream_gene_variant,,ENST00000554662,;	6980	66	61	SUCCESS
ARF6	382	.	GRCh37	14	50360727	50360727	+	synonymous_variant	Silent	SNP	C	C	T	rs760817062	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	105	1	ENST00000298316.5:c.273C>T	p.Ala91=	p.A91=	ENST00000298316	NM_001663.3	91	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9695.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCCGACCG	NONE	byFrequency	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF106,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00178,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000298316	.	2/2	.	.	.	.	.	.	.	.	rs760817062	2/2	PASS	ENST00000298316	Transcript	.	.	ENSG00000165527	659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARF6_HUMAN	ARF6	HGNC	.	.	UPI0000021AA1	SNV	ARF6,synonymous_variant,p.%3D,ENST00000298316,;	820	106	62	SUCCESS
PSEN1	5663	.	GRCh37	14	73678608	73678608	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs996227958	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	102	0	ENST00000324501.5:c.1087G>C	p.Glu363Gln	p.E363Q	ENST00000324501	NM_000021.3	363	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS9812.1	1087	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAACTT	NONE	.	.	SMART_domains:SM00730,Pfam_domain:PF01080,hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF7	.	.	ENSP00000326366	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000324501	Transcript	.	.	ENSG00000080815	9508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.45)	.	PSN1_HUMAN	PSEN1	HGNC	G3V4P4_HUMAN,G3V4M0_HUMAN,G3V2G7_HUMAN,E7ES96_HUMAN	.	UPI000003F05F	SNV	PSEN1,missense_variant,p.Glu359Gln,ENST00000394164,;PSEN1,missense_variant,p.Glu271Gln,ENST00000406768,;PSEN1,missense_variant,p.Glu363Gln,ENST00000324501,;PSEN1,missense_variant,p.Glu359Gln,ENST00000357710,;PSEN1,3_prime_UTR_variant,,ENST00000344094,;PSEN1,intron_variant,,ENST00000261970,;PSEN1,intron_variant,,ENST00000557511,;PSEN1,3_prime_UTR_variant,,ENST00000553855,;PSEN1,3_prime_UTR_variant,,ENST00000555386,;PSEN1,non_coding_transcript_exon_variant,,ENST00000555867,;PSEN1,downstream_gene_variant,,ENST00000554995,;	1359	102	99	SUCCESS
DLST	1743	.	GRCh37	14	75360084	75360084	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs146211570	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	96	0	ENST00000334220.4:c.629T>C	p.Leu210Pro	p.L210P	ENST00000334220	NM_001933.4	210	cTa/cCa	0	C:0.0009	C:0.0023	.	C:0	.	C	L/P	protein_coding	YES	CCDS9833.1	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTAGCTG	NONE	byFrequency|byCluster|by1000G	.	TIGRFAM_domain:TIGR01347,hmmpanther:PTHR23151:SF8,hmmpanther:PTHR23151	C:0	C:0.0001	ENSP00000335304	C:0	9/15	.	.	.	.	.	.	.	.	rs146211570	9/15	PASS	ENST00000334220	Transcript	.	C:0.0006	ENSG00000119689	2911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	C:0	tolerated(0.35)	.	ODO2_HUMAN	DLST	HGNC	.	.	UPI00000000C0	SNV	DLST,missense_variant,p.Leu210Pro,ENST00000334220,;DLST,missense_variant,p.Leu124Pro,ENST00000334212,;DLST,missense_variant,p.Leu193Pro,ENST00000554806,;DLST,non_coding_transcript_exon_variant,,ENST00000555190,;DLST,3_prime_UTR_variant,,ENST00000554612,;DLST,3_prime_UTR_variant,,ENST00000238671,;DLST,3_prime_UTR_variant,,ENST00000555089,;DLST,3_prime_UTR_variant,,ENST00000555988,;DLST,downstream_gene_variant,,ENST00000555459,;DLST,downstream_gene_variant,,ENST00000550473,;DLST,downstream_gene_variant,,ENST00000556460,;DLST,downstream_gene_variant,,ENST00000557012,;DLST,downstream_gene_variant,,ENST00000555071,;DLST,downstream_gene_variant,,ENST00000556582,;DLST,downstream_gene_variant,,ENST00000555492,;	690	96	45	SUCCESS
TRIP11	9321	.	GRCh37	14	92488109	92488109	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757576503	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	68	0	ENST00000267622.4:c.379G>A	p.Ala127Thr	p.A127T	ENST00000267622	NM_004239.3	127	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS9899.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCTGACT	NONE	.	.	hmmpanther:PTHR18921:SF2,hmmpanther:PTHR18921	.	.	ENSP00000267622	.	4/21	.	.	.	.	.	.	.	.	rs757576503	4/21	PASS	ENST00000267622	Transcript	1	.	ENSG00000100815	12305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.07)	.	TRIPB_HUMAN	TRIP11	HGNC	G3V4R7_HUMAN	.	UPI000013D767	SNV	TRIP11,missense_variant,p.Ala127Thr,ENST00000267622,;TRIP11,5_prime_UTR_variant,,ENST00000555516,;RP11-529H20.3,upstream_gene_variant,,ENST00000594284,;RP11-529H20.3,upstream_gene_variant,,ENST00000556323,;	753	68	40	SUCCESS
GABRB3	2562	.	GRCh37	15	26866602	26866602	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1347499222	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	116	0	ENST00000311550.5:c.320C>T	p.Thr107Met	p.T107M	ENST00000311550	NM_000814.5	107	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS10019.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGTGAGG	NONE	.	.	hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR01160	.	.	ENSP00000308725	.	4/9	.	.	.	.	.	.	.	.	COSM4053763,COSM4053764,COSM4053765	4/9	PASS	ENST00000311550	Transcript	1	.	ENSG00000166206	4083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1	GBRB3_HUMAN	GABRB3	HGNC	G3V5B4_HUMAN	.	UPI000012AFB0	SNV	GABRB3,missense_variant,p.Thr163Met,ENST00000541819,;GABRB3,missense_variant,p.Thr22Met,ENST00000545868,;GABRB3,missense_variant,p.Thr107Met,ENST00000311550,;GABRB3,missense_variant,p.Thr107Met,ENST00000299267,;GABRB3,missense_variant,p.Thr22Met,ENST00000555094,;GABRB3,missense_variant,p.Thr36Met,ENST00000400188,;GABRB3,missense_variant,p.Thr22Met,ENST00000556166,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,intron_variant,,ENST00000554556,;GABRB3,upstream_gene_variant,,ENST00000556636,;	432	116	85	SUCCESS
MYO9A	4649	.	GRCh37	15	72244235	72244235	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs202204697	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	22	0	ENST00000356056.5:c.2185C>A	p.His729Asn	p.H729N	ENST00000356056	NM_006901.3	729	Cat/Aat	0	.	A:0	.	A:0	.	T	H/N	protein_coding	YES	CCDS10239.1	2185	MUTECT|MUSE|VARSCANS	.	ATCATGTCCTT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,SMART_domains:SM00242	A:0.001	.	ENSP00000348349	A:0	15/42	.	.	.	.	.	.	.	.	rs202204697	15/42	PASS	ENST00000356056	Transcript	.	A:0.0002	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	A:0	tolerated(0.25)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.His729Asn,ENST00000424560,;MYO9A,missense_variant,p.His729Asn,ENST00000564571,;MYO9A,missense_variant,p.His324Asn,ENST00000566885,;MYO9A,missense_variant,p.His729Asn,ENST00000356056,;MYO9A,missense_variant,p.His710Asn,ENST00000444904,;MYO9A,splice_region_variant,,ENST00000563542,;MYO9A,splice_region_variant,,ENST00000566744,;MYO9A,splice_region_variant,,ENST00000563648,;MYO9A,splice_region_variant,,ENST00000563925,;MYO9A,intron_variant,,ENST00000567095,;	2658	22	35	SUCCESS
KIF7	374654	.	GRCh37	15	90171679	90171679	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	105	0	ENST00000394412.3:c.4003A>T	p.Met1335Leu	p.M1335L	ENST00000394412	NM_198525.2	1335	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS32325.2	4003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCATCCCCG	NONE	.	.	.	.	.	ENSP00000377934	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000394412	Transcript	1	.	ENSG00000166813	30497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	KIF7_HUMAN	KIF7	HGNC	B7ZKY4_HUMAN	.	UPI00015F81C7	SNV	KIF7,missense_variant,p.Met1335Leu,ENST00000394412,;TICRR,downstream_gene_variant,,ENST00000560985,;TICRR,downstream_gene_variant,,ENST00000268138,;KIF7,intron_variant,,ENST00000558928,;TICRR,intron_variant,,ENST00000561095,;	4080	105	91	SUCCESS
RBBP6	5930	.	GRCh37	16	24583618	24583618	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	91	197	0	ENST00000319715.4:c.5231A>G	p.His1744Arg	p.H1744R	ENST00000319715	NM_006910.4	1744	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS10621.1	5231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCATAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15439:SF1,hmmpanther:PTHR15439	.	.	ENSP00000317872	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000319715	Transcript	.	.	ENSG00000122257	9889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	RBBP6_HUMAN	RBBP6	HGNC	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN	.	UPI00001A96B8	SNV	RBBP6,missense_variant,p.His904Arg,ENST00000381039,;RBBP6,missense_variant,p.His1744Arg,ENST00000319715,;RBBP6,missense_variant,p.His1710Arg,ENST00000348022,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	5663	197	199	SUCCESS
SNX20	124460	.	GRCh37	16	50707378	50707378	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751339391	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	61	0	ENST00000330943.4:c.890G>A	p.Arg297Gln	p.R297Q	ENST00000330943	NM_182854.2	297	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10745.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCGGAGC	NONE	.	.	hmmpanther:PTHR20939:SF1,hmmpanther:PTHR20939	.	.	ENSP00000332062	.	4/4	.	.	.	.	.	.	.	.	rs751339391	4/4	PASS	ENST00000330943	Transcript	.	.	ENSG00000167208	30390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.34)	.	SNX20_HUMAN	SNX20	HGNC	.	.	UPI000004348D	SNV	SNX20,missense_variant,p.Arg297Gln,ENST00000330943,;SNX20,intron_variant,,ENST00000423026,;SNX20,intron_variant,,ENST00000300590,;RP11-401P9.5,downstream_gene_variant,,ENST00000570167,;RP11-401P9.5,downstream_gene_variant,,ENST00000570241,;SNX20,intron_variant,,ENST00000568993,;	1062	61	54	SUCCESS
IST1	9798	.	GRCh37	16	71961659	71961659	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	58	0	ENST00000535424.1:c.1083A>C	p.Glu361Asp	p.E361D	ENST00000535424		361	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS59271.1	1083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAAGACAT	NONE	.	.	hmmpanther:PTHR12161	.	.	ENSP00000438399	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000535424	Transcript	.	.	ENSG00000182149	28977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.94)	.	IST1_HUMAN	IST1	HGNC	J3QLU7_HUMAN,H3BUI0_HUMAN,H3BRE2_HUMAN,H3BQF7_HUMAN,H3BQ38_HUMAN,H3BPP6_HUMAN,H3BMU1_HUMAN,B4DXC9_HUMAN,B4DLP1_HUMAN	.	UPI00001FF5EB	SNV	IST1,missense_variant,p.Glu200Asp,ENST00000538850,;IST1,missense_variant,p.Glu348Asp,ENST00000378799,;IST1,missense_variant,p.Glu348Asp,ENST00000541571,;IST1,missense_variant,p.Glu348Asp,ENST00000544564,;IST1,missense_variant,p.Glu271Asp,ENST00000456820,;IST1,missense_variant,p.Glu200Asp,ENST00000606369,;IST1,missense_variant,p.Glu361Asp,ENST00000535424,;IST1,missense_variant,p.Glu317Asp,ENST00000378798,;IST1,missense_variant,p.Lys347Thr,ENST00000329908,;RP11-498D10.5,upstream_gene_variant,,ENST00000567146,;RP11-498D10.6,upstream_gene_variant,,ENST00000573861,;IST1,non_coding_transcript_exon_variant,,ENST00000538565,;PKD1L3,downstream_gene_variant,,ENST00000534738,;PKD1L3,downstream_gene_variant,,ENST00000335106,;IST1,3_prime_UTR_variant,,ENST00000536027,;IST1,3_prime_UTR_variant,,ENST00000439924,;IST1,non_coding_transcript_exon_variant,,ENST00000541180,;IST1,downstream_gene_variant,,ENST00000538709,;IST1,downstream_gene_variant,,ENST00000537571,;	1199	58	50	SUCCESS
HPR	3250	.	GRCh37	16	72110680	72110680	+	synonymous_variant	Silent	SNP	C	C	T	rs773674981	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	39	129	1	ENST00000540303.2:c.747C>T	p.Tyr249=	p.Y249=	ENST00000540303	NM_020995.3	249	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS42193.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATACGATTG	NONE	byFrequency	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,PIRSF_domain:PIRSF001137,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24265:SF25,hmmpanther:PTHR24265,PROSITE_profiles:PS50240	.	.	ENSP00000441828	.	5/5	.	.	.	.	.	.	.	.	rs773674981,COSM3969682,COSM3969683	5/5	PASS	ENST00000540303	Transcript	.	.	ENSG00000261701	5156	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	HPTR_HUMAN	HPR	HGNC	Q14552_HUMAN	.	UPI000034ECF8	SNV	HPR,synonymous_variant,p.%3D,ENST00000228226,;HPR,synonymous_variant,p.%3D,ENST00000356967,;HPR,synonymous_variant,p.%3D,ENST00000540303,;HPR,intron_variant,,ENST00000561690,;TXNL4B,intron_variant,,ENST00000562153,;HPR,downstream_gene_variant,,ENST00000566168,;	779	130	104	SUCCESS
ZNF469	84627	.	GRCh37	16	88495895	88495895	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770623245	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	15	232	0	ENST00000437464.1:c.2017G>A	p.Ala673Thr	p.A673T	ENST00000437464	NM_001127464.1	673	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45544.1	2017	MUTECT|MUSE	.	TTCCCGCAGAT	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	rs770623245	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ala673Thr,ENST00000565624,;ZNF469,missense_variant,p.Ala673Thr,ENST00000437464,;	2017	232	177	SUCCESS
ZNF286B	729288	.	GRCh37	17	18566384	18566384	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	72	222	1	ENST00000545289.1:c.435G>T	p.Arg145=	p.R145=	ENST00000545289	NM_001145045.1	145	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS58523.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTCCGTGT	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF217	.	.	ENSP00000461413	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000545289	Transcript	.	.	ENSG00000249459	33241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z286B_HUMAN	ZNF286B	HGNC	J3KS91_HUMAN	.	UPI000192A2F2	SNV	ZNF286B,synonymous_variant,p.%3D,ENST00000545289,;ZNF286B,3_prime_UTR_variant,,ENST00000285274,;RP11-815I9.4,downstream_gene_variant,,ENST00000578214,;TBC1D28,upstream_gene_variant,,ENST00000570881,;	686	223	99	SUCCESS
SLC13A2	9058	.	GRCh37	17	26817351	26817351	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	26	75	0	ENST00000314669.5:c.232-121T>A		p.*78*	ENST00000314669	NM_003984.3	86		0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS54098.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTTTCGA	NONE	.	.	hmmpanther:PTHR10283:SF66,hmmpanther:PTHR10283,Pfam_domain:PF00939	.	.	ENSP00000392411	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000444914	Transcript	.	.	ENSG00000007216	10917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	tolerated(0.5)	.	.	SLC13A2	HGNC	.	.	UPI0001986446	SNV	SLC13A2,missense_variant,p.Ser86Arg,ENST00000444914,;SLC13A2,5_prime_UTR_variant,,ENST00000537681,;SLC13A2,intron_variant,,ENST00000545060,;SLC13A2,intron_variant,,ENST00000314669,;SLC13A2,3_prime_UTR_variant,,ENST00000459818,;SLC13A2,intron_variant,,ENST00000541739,;SLC13A2,intron_variant,,ENST00000577903,;RP11-192H23.4,intron_variant,,ENST00000481916,;SLC13A2,intron_variant,,ENST00000579281,;	678	75	145	SUCCESS
SLFN12L	100506736	.	GRCh37	17	33849752	33849752	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	400	89	250	2	ENST00000361112.4:c.-354C>A		p.*118*	ENST00000361112				0	.	.	.	.	.	T	.	protein_coding	.	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	GGGCAGTGCAA	NONE	.	.	.	.	.	ENSP00000354412	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000361112	Transcript	.	.	ENSG00000205045	33920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SN12L_HUMAN	SLFN12L	HGNC	.	.	UPI000041A9FA	SNV	SLFN12L,5_prime_UTR_variant,,ENST00000361112,;	526	252	489	SUCCESS
KRT10	3858	.	GRCh37	17	38975272	38975272	+	synonymous_variant	Silent	SNP	G	G	T	rs765311191,rs781659630	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	75	0	ENST00000269576.5:c.1515C>A	p.Gly505=	p.G505=	ENST00000269576	NM_000421.3	505	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS11377.1	1515	RADIA|VARSCANS	.	CCGCCGCCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF137,hmmpanther:PTHR23239	.	.	ENSP00000269576	.	7/8	.	.	.	.	.	.	.	.	rs765311191,rs781659630	7/8	PASS	ENST00000269576	Transcript	.	.	ENSG00000186395	6413	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1C10_HUMAN	KRT10	HGNC	.	.	UPI000013D842	SNV	KRT10,synonymous_variant,p.%3D,ENST00000269576,;TMEM99,upstream_gene_variant,,ENST00000436612,;TMEM99,upstream_gene_variant,,ENST00000301665,;TMEM99,upstream_gene_variant,,ENST00000496847,;	1525	75	53	SUCCESS
KRT20	54474	.	GRCh37	17	39034466	39034466	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	20	97	0	ENST00000167588.3:c.1070T>C	p.Leu357Pro	p.L357P	ENST00000167588	NM_019010.2	357	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11379.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAAGAAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF149,hmmpanther:PTHR23239	.	.	ENSP00000167588	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000167588	Transcript	.	.	ENSG00000171431	20412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	K1C20_HUMAN	KRT20	HGNC	.	.	UPI000012DAF1	SNV	KRT20,missense_variant,p.Leu357Pro,ENST00000167588,;KRT20,downstream_gene_variant,,ENST00000482529,;	1112	97	129	SUCCESS
KANSL1	284058	.	GRCh37	17	44144979	44144979	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1386788892	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	31	98	1	ENST00000574590.1:c.1588A>G	p.Ile530Val	p.I530V	ENST00000574590	NM_001193465.1	530	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS11503.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATATGAC	NONE	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443	.	.	ENSP00000262419	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.61)	.	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	SNV	KANSL1,missense_variant,p.Ile530Val,ENST00000432791,;KANSL1,missense_variant,p.Ile530Val,ENST00000262419,;KANSL1,missense_variant,p.Ile530Val,ENST00000572904,;KANSL1,missense_variant,p.Ile530Val,ENST00000575318,;KANSL1,missense_variant,p.Ile530Val,ENST00000574590,;KANSL1,5_prime_UTR_variant,,ENST00000393476,;KANSL1,non_coding_transcript_exon_variant,,ENST00000577114,;	2059	99	161	SUCCESS
NME2	4831	.	GRCh37	17	49247317	49247317	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	29	74	0	ENST00000393193.2:c.593T>C	p.Val198Ala	p.V198A	ENST00000393193		198	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32682.1	593	RADIA|MUTECT|MUSE|VARSCANS	.	GAACGTGGTGA	NONE	.	.	Prints_domain:PR01243,Superfamily_domains:SSF54919,SMART_domains:SM00562,Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349:SF57,hmmpanther:PTHR11349,HAMAP:MF_00451	.	.	ENSP00000376894	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000393198	Transcript	.	.	ENSG00000243678	33531	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.798)	.	tolerated(0.24)	.	NDKB_HUMAN	NME1-NME2	HGNC	Q6FHN3_HUMAN,F6XY72_HUMAN	.	UPI00005194F3	SNV	NME1-NME2,missense_variant,p.Val8Ala,ENST00000393183,;NME1-NME2,missense_variant,p.Val83Ala,ENST00000514264,;NME1-NME2,missense_variant,p.Val8Ala,ENST00000393185,;NME1-NME2,missense_variant,p.Val83Ala,ENST00000513177,;NME1-NME2,missense_variant,p.Val223Ala,ENST00000608447,;NME1-NME2,missense_variant,p.Val83Ala,ENST00000512737,;NME1-NME2,missense_variant,p.Val83Ala,ENST00000503064,;NME1-NME2,missense_variant,p.Val83Ala,ENST00000393190,;NME1-NME2,missense_variant,p.Val198Ala,ENST00000393198,;NME2,missense_variant,p.Val223Ala,ENST00000555572,;NME2,missense_variant,p.Val198Ala,ENST00000393193,;NME2,intron_variant,,ENST00000376392,;NME1-NME2,non_coding_transcript_exon_variant,,ENST00000570801,;NME1-NME2,non_coding_transcript_exon_variant,,ENST00000573262,;NME1-NME2,downstream_gene_variant,,ENST00000485076,;	701	74	172	SUCCESS
ZNF594	84622	.	GRCh37	17	5086035	5086035	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200447677	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	96	0	ENST00000399604.4:c.1517A>G	p.His506Arg	p.H506R	ENST00000399604		506	cAt/cGt	0	C:0.0002	.	.	.	.	C	H/R	protein_coding	YES	CCDS42241.1	1517	MUTECT|MUSE|VARSCANS	.	TCCGATGTTGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF127,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	C:0	ENSP00000382513	.	1/1	.	.	.	.	.	.	.	.	rs200447677	1/1	PASS	ENST00000399604	Transcript	.	.	ENSG00000180626	29392	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	ZN594_HUMAN	ZNF594	HGNC	I3L508_HUMAN	.	UPI00001C1FDF	SNV	ZNF594,missense_variant,p.His506Arg,ENST00000575779,;ZNF594,missense_variant,p.His506Arg,ENST00000399604,;ZNF594,downstream_gene_variant,,ENST00000576772,;	1658	97	49	SUCCESS
ERN1	2081	.	GRCh37	17	62207472	62207472	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	7	8	0	ENST00000433197.3:c.-83C>G		p.*28*	ENST00000433197	NM_001433.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45762.1	.	MUTECT|MUSE	.	TGACCGAGCCT	NONE	.	.	.	.	.	ENSP00000401445	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000433197	Transcript	.	.	ENSG00000178607	3449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERN1_HUMAN	ERN1	HGNC	.	.	UPI0000201263	SNV	ERN1,5_prime_UTR_variant,,ENST00000606895,;ERN1,5_prime_UTR_variant,,ENST00000433197,;ERN1,non_coding_transcript_exon_variant,,ENST00000584041,;ERN1,non_coding_transcript_exon_variant,,ENST00000583028,;	14	8	8	SUCCESS
PLEKHM1P	0	.	GRCh37	17	62796533	62796533	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs764838360	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	286	202	1	ENST00000578036.1:n.1621G>A		p.*541*	ENST00000578036				0	.	.	.	.	.	T	.	processed_transcript	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCATGTA	NONE	.	.	.	.	.	.	.	7/18	.	.	.	.	.	.	.	.	rs764838360	7/18	PASS	ENST00000578036	Transcript	.	.	ENSG00000214176	35411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLEKHM1P	HGNC	.	.	.	SNV	PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000578036,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582986,;PLEKHM1P,downstream_gene_variant,,ENST00000580919,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582201,;PLEKHM1P,downstream_gene_variant,,ENST00000440036,;	1621	203	390	SUCCESS
USH1G	124590	.	GRCh37	17	72916457	72916457	+	synonymous_variant	Silent	SNP	G	G	A	rs765860407	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	53	0	ENST00000319642.1:c.474C>T	p.His158=	p.H158=	ENST00000319642	NM_173477.2	158	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS32725.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCGTGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000320076	.	2/3	.	.	.	.	.	.	.	.	rs765860407	2/3	PASS	ENST00000319642	Transcript	.	.	ENSG00000182040	16356	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH1G_HUMAN	USH1G	HGNC	.	.	UPI00001BC010	SNV	USH1G,synonymous_variant,p.%3D,ENST00000319642,;OTOP2,upstream_gene_variant,,ENST00000580223,;OTOP2,upstream_gene_variant,,ENST00000331427,;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	657	53	86	SUCCESS
C17orf74	0	.	GRCh37	17	7329876	7329876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	18	67	0	ENST00000333870.3:c.566A>G	p.Asp189Gly	p.D189G	ENST00000333870	NM_175734.4	189	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS42255.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGACAACC	NONE	.	.	.	.	.	ENSP00000328061	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333870	Transcript	.	.	ENSG00000184560	27315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	CQ074_HUMAN	C17orf74	HGNC	.	.	UPI000015FC87	SNV	C17orf74,missense_variant,p.Asp189Gly,ENST00000333870,;C17orf74,synonymous_variant,p.%3D,ENST00000574034,;SPEM1,downstream_gene_variant,,ENST00000323675,;RP11-104H15.7,intron_variant,,ENST00000575310,;	640	67	27	SUCCESS
FSCN2	25794	.	GRCh37	17	79495432	79495432	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs564625393	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	41	0	ENST00000417245.2:c.-126G>T		p.*42*	ENST00000417245	NM_012418.3			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS45810.1	.	MUTECT|MUSE	.	GGTTCGTGACG	NONE	by1000G	126	.	A:0	.	ENSP00000334665	A:0.001	.	.	.	.	.	.	.	.	.	rs564625393	.	PASS	ENST00000334850	Transcript	.	A:0.0002	ENSG00000186765	3960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	FSCN2_HUMAN	FSCN2	HGNC	.	.	UPI0000E5925D	SNV	FSCN2,5_prime_UTR_variant,,ENST00000417245,;ACTG1,upstream_gene_variant,,ENST00000575994,;FSCN2,upstream_gene_variant,,ENST00000334850,;RP13-766D20.2,downstream_gene_variant,,ENST00000430912,;RP13-766D20.2,downstream_gene_variant,,ENST00000442532,;	.	41	54	SUCCESS
KRBA2	124751	.	GRCh37	17	8272535	8272535	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752848441	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	23	95	0	ENST00000331336.2:c.1396G>T	p.Asp466Tyr	p.D466Y	ENST00000331336	NM_213597.2	466	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS11141.1	1396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCAGATC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000328017	.	2/2	.	.	.	.	.	.	.	.	rs752848441	2/2	PASS	ENST00000331336	Transcript	.	.	ENSG00000184619	26989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	KRBA2_HUMAN	KRBA2	HGNC	A8MX02_HUMAN	.	UPI000023766D	SNV	KRBA2,missense_variant,p.Asp466Tyr,ENST00000331336,;KRBA2,missense_variant,p.Asp384Tyr,ENST00000396267,;RP11-849F2.5,intron_variant,,ENST00000580537,;RP11-849F2.5,intron_variant,,ENST00000583963,;RP11-849F2.7,3_prime_UTR_variant,,ENST00000582471,;	1402	95	34	SUCCESS
MIR1-2	406905	.	GRCh37	18	19408808	19408811	+	non_coding_transcript_exon_variant	RNA	DEL	TCTA	TCTA	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	TCTA	TCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	39	0	ENST00000581072.1:n.863_866del		p.*288*	ENST00000581072				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11871.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAGTTTCTATCTAT	NONE	.	.	.	.	.	ENSP00000261537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261537	Transcript	.	.	ENSG00000101752	21086	6	.	MODIFIER	12/20	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIB1_HUMAN	MIB1	HGNC	B3KRA8_HUMAN	.	UPI000000D833	deletion	MIB1,intron_variant,,ENST00000261537,;MIR1-2,downstream_gene_variant,,ENST00000384961,;MIR1-2,upstream_gene_variant,,ENST00000385052,;MIR1-2,non_coding_transcript_exon_variant,,ENST00000581072,;MIR1-2,downstream_gene_variant,,ENST00000577659,;MIR1-2,downstream_gene_variant,,ENST00000581613,;MIB1,intron_variant,,ENST00000578646,;	.	39	24	SUCCESS
ZNF397	84307	.	GRCh37	18	32825455	32825455	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	23	92	0	ENST00000330501.7:c.786T>A	p.Ala262=	p.A262=	ENST00000330501	NM_001135178.2	262	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45852.1	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGAAAG	NONE	.	.	hmmpanther:PTHR23226:SF21,hmmpanther:PTHR23226	.	.	ENSP00000331577	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330501	Transcript	.	.	ENSG00000186812	18818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN397_HUMAN	ZNF397	HGNC	M0R288_HUMAN	.	UPI000000D7E4	SNV	ZNF397,synonymous_variant,p.%3D,ENST00000330501,;ZNF397,intron_variant,,ENST00000261333,;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000592264,;ZNF397,downstream_gene_variant,,ENST00000588119,;ZNF397,downstream_gene_variant,,ENST00000585800,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZNF397,downstream_gene_variant,,ENST00000591206,;ZNF397,intron_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;	939	92	101	SUCCESS
LAMA1	284217	.	GRCh37	18	7008502	7008502	+	synonymous_variant	Silent	SNP	C	C	A	rs374423781	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	63	0	ENST00000389658.3:c.4107G>T	p.Val1369=	p.V1369=	ENST00000389658	NM_005559.3	1369	gtG/gtT	0	A:0.0002	.	.	.	.	A	V	protein_coding	YES	CCDS32787.1	4107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCCACAGT	NONE	byCluster	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Pfam_domain:PF00053,SMART_domains:SM00180	.	A:0	ENSP00000374309	.	28/63	.	.	.	.	.	.	.	.	rs374423781,COSM3362617	28/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	4201	63	64	SUCCESS
FARSA	2193	.	GRCh37	19	13041077	13041077	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs367913864	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	86	0	ENST00000314606.4:c.463G>A	p.Glu155Lys	p.E155K	ENST00000314606	NM_004461.2	155	Gag/Aag	0	T:0.0002	.	.	.	.	T	E/K	protein_coding	YES	CCDS12287.1	463	MUTECT|MUSE|VARSCANS	.	CCTCTCCTTCT	NONE	byFrequency|byCluster	.	Gene3D:3.30.930.10,hmmpanther:PTHR11538:SF15,hmmpanther:PTHR11538	.	T:0	ENSP00000320309	.	4/13	.	.	.	.	.	.	.	.	rs367913864	4/13	PASS	ENST00000314606	Transcript	.	.	ENSG00000179115	3592	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.83)	.	SYFA_HUMAN	FARSA	HGNC	Q6IBR2_HUMAN	.	UPI0000136413	SNV	FARSA,missense_variant,p.Glu71Lys,ENST00000593021,;FARSA,missense_variant,p.Glu195Lys,ENST00000588025,;FARSA,missense_variant,p.Glu155Lys,ENST00000314606,;FARSA,missense_variant,p.Glu155Lys,ENST00000423140,;FARSA,downstream_gene_variant,,ENST00000587981,;FARSA,upstream_gene_variant,,ENST00000587488,;CTC-425F1.2,upstream_gene_variant,,ENST00000592636,;FARSA,missense_variant,p.Glu155Lys,ENST00000586146,;FARSA,non_coding_transcript_exon_variant,,ENST00000588965,;FARSA,non_coding_transcript_exon_variant,,ENST00000592662,;FARSA,non_coding_transcript_exon_variant,,ENST00000586280,;	482	86	73	SUCCESS
STX10	8677	.	GRCh37	19	13260405	13260405	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1472027519	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	82	0	ENST00000587230.1:c.208A>G	p.Ile70Val	p.I70V	ENST00000587230	NM_001271609.1	70	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32922.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATACGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12380:SF45,hmmpanther:PTHR12380,Pfam_domain:PF09177,Gene3D:1.20.58.90,Superfamily_domains:SSF47661	.	.	ENSP00000466298	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000587230	Transcript	.	.	ENSG00000104915	11428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	deleterious(0.05)	.	STX10_HUMAN	STX10	HGNC	K7EPP9_HUMAN,K7EJ05_HUMAN	.	UPI000013616B	SNV	STX10,missense_variant,p.Ile55Val,ENST00000587318,;STX10,missense_variant,p.Ile70Val,ENST00000587230,;STX10,missense_variant,p.Ile39Val,ENST00000593126,;STX10,missense_variant,p.Ile70Val,ENST00000589083,;STX10,missense_variant,p.Ile70Val,ENST00000242770,;STX10,missense_variant,p.Ile70Val,ENST00000343587,;STX10,splice_region_variant,,ENST00000591197,;STX10,5_prime_UTR_variant,,ENST00000588848,;IER2,upstream_gene_variant,,ENST00000587885,;IER2,upstream_gene_variant,,ENST00000588173,;IER2,upstream_gene_variant,,ENST00000292433,;STX10,upstream_gene_variant,,ENST00000591415,;CTC-250I14.6,downstream_gene_variant,,ENST00000592882,;CTC-250I14.6,downstream_gene_variant,,ENST00000586483,;STX10,synonymous_variant,p.%3D,ENST00000440593,;STX10,intron_variant,,ENST00000591843,;	273	82	67	SUCCESS
IFI30	10437	.	GRCh37	19	18284678	18284678	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	41	0	ENST00000407280.3:c.28del	p.Leu10CysfsTer23	p.L10Cfs*23	ENST00000407280	NM_006332.4	9	ttC/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS46015.1	27	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGTTCCTGCC	NONE	.	.	hmmpanther:PTHR13234:SF8,hmmpanther:PTHR13234,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000384886	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000407280	Transcript	.	.	ENSG00000216490	5398	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GILT_HUMAN	IFI30	HGNC	M0QZG3_HUMAN	.	UPI0000072A2B	deletion	IFI30,frameshift_variant,p.Leu10CysfsTer23,ENST00000407280,;IFI30,frameshift_variant,p.Leu10CysfsTer23,ENST00000597802,;PIK3R2,downstream_gene_variant,,ENST00000222254,;PIK3R2,3_prime_UTR_variant,,ENST00000593731,;IFI30,upstream_gene_variant,,ENST00000600463,;PIK3R2,downstream_gene_variant,,ENST00000459743,;PIK3R2,downstream_gene_variant,,ENST00000464016,;PIK3R2,downstream_gene_variant,,ENST00000426902,;	202	41	55	SUCCESS
ZNF100	163227	.	GRCh37	19	21909720	21909720	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768043951	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	59	0	ENST00000358296.6:c.1394C>T	p.Ala465Val	p.A465V	ENST00000358296	NM_173531.3	465	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS42538.1	1394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGGCTTTG	NONE	byFrequency	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF78,PROSITE_profiles:PS50157	.	.	ENSP00000351042	.	5/5	.	.	.	.	.	.	.	.	rs768043951	5/5	PASS	ENST00000358296	Transcript	.	.	ENSG00000197020	12880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0.04)	.	ZN100_HUMAN	ZNF100	HGNC	Q6MZN6_HUMAN	.	UPI00001614AC	SNV	ZNF100,missense_variant,p.Ala401Val,ENST00000305570,;ZNF100,missense_variant,p.Ala465Val,ENST00000358296,;ZNF100,downstream_gene_variant,,ENST00000594401,;	1593	59	32	SUCCESS
GPATCH1	55094	.	GRCh37	19	33572045	33572045	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	59	0	ENST00000170564.2:c.-55G>A		p.*19*	ENST00000170564	NM_018025.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12428.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGGCGTT	NONE	.	.	.	.	.	ENSP00000170564	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000170564	Transcript	.	.	ENSG00000076650	24658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPTC1_HUMAN	GPATCH1	HGNC	.	.	UPI000004EC71	SNV	GPATCH1,5_prime_UTR_variant,,ENST00000170564,;GPATCH1,5_prime_UTR_variant,,ENST00000592165,;	260	59	73	SUCCESS
ZNF585B	92285	.	GRCh37	19	37676473	37676473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	66	189	0	ENST00000532828.2:c.1966C>T	p.His656Tyr	p.H656Y	ENST00000532828	NM_152279.3	656	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS12500.1	1966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATGAGTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000433773	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000532828	Transcript	.	.	ENSG00000245680	30948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,missense_variant,p.His244Tyr,ENST00000312908,;ZNF585B,missense_variant,p.His601Tyr,ENST00000531805,;ZNF585B,missense_variant,p.His656Tyr,ENST00000532828,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,downstream_gene_variant,,ENST00000591492,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	2218	189	165	SUCCESS
ZNF284	342909	.	GRCh37	19	44590539	44590539	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1242391965	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	62	0	ENST00000421176.3:c.908A>G	p.Asn303Ser	p.N303S	ENST00000421176	NM_001037813.2	303	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46099.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTAATAGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000411032	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421176	Transcript	.	.	ENSG00000186026	13078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	tolerated(0.1)	.	ZN284_HUMAN	ZNF284	HGNC	.	.	UPI00005788EA	SNV	ZNF284,missense_variant,p.Asn303Ser,ENST00000421176,;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;	1124	62	52	SUCCESS
SIX5	147912	.	GRCh37	19	46271365	46271365	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	51	0	ENST00000317578.6:c.738C>T	p.Ser246=	p.S246=	ENST00000317578	NM_175875.4	246	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12673.1	738	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTGCTGAC	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,PROSITE_patterns:PS00027,hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390,PROSITE_profiles:PS50071	.	.	ENSP00000316842	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000317578	Transcript	1	.	ENSG00000177045	10891	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIX5_HUMAN	SIX5	HGNC	.	.	UPI0000366E2B	SNV	SIX5,stop_gained,p.Gln46Ter,ENST00000560168,;SIX5,synonymous_variant,p.%3D,ENST00000560160,;SIX5,synonymous_variant,p.%3D,ENST00000317578,;DMPK,downstream_gene_variant,,ENST00000593574,;DMPK,downstream_gene_variant,,ENST00000597660,;DMPK,downstream_gene_variant,,ENST00000291270,;DMPK,downstream_gene_variant,,ENST00000458663,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000447742,;DMPK,downstream_gene_variant,,ENST00000354227,;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000343373,;AC074212.6,non_coding_transcript_exon_variant,,ENST00000590076,;AC074212.5,intron_variant,,ENST00000559756,;AC074212.6,upstream_gene_variant,,ENST00000591530,;AC074212.6,upstream_gene_variant,,ENST00000586498,;AC074212.6,upstream_gene_variant,,ENST00000586251,;AC074212.5,upstream_gene_variant,,ENST00000592217,;DMPK,downstream_gene_variant,,ENST00000588522,;DMPK,downstream_gene_variant,,ENST00000600370,;DMPK,downstream_gene_variant,,ENST00000598272,;DMPK,downstream_gene_variant,,ENST00000596686,;	1120	51	35	SUCCESS
SIX5	147912	.	GRCh37	19	46271366	46271366	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	53	0	ENST00000317578.6:c.737G>T	p.Ser246Ile	p.S246I	ENST00000317578	NM_175875.4	246	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS12673.1	737	SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGCTGACC	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,PROSITE_patterns:PS00027,hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390,PROSITE_profiles:PS50071	.	.	ENSP00000316842	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000317578	Transcript	1	.	ENSG00000177045	10891	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	SIX5_HUMAN	SIX5	HGNC	.	.	UPI0000366E2B	SNV	SIX5,missense_variant,p.Ser174Ile,ENST00000560160,;SIX5,missense_variant,p.Gln45His,ENST00000560168,;SIX5,missense_variant,p.Ser246Ile,ENST00000317578,;DMPK,downstream_gene_variant,,ENST00000593574,;DMPK,downstream_gene_variant,,ENST00000597660,;DMPK,downstream_gene_variant,,ENST00000291270,;DMPK,downstream_gene_variant,,ENST00000458663,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000447742,;DMPK,downstream_gene_variant,,ENST00000354227,;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000343373,;AC074212.6,non_coding_transcript_exon_variant,,ENST00000590076,;AC074212.5,intron_variant,,ENST00000559756,;AC074212.6,upstream_gene_variant,,ENST00000591530,;AC074212.6,upstream_gene_variant,,ENST00000586498,;AC074212.6,upstream_gene_variant,,ENST00000586251,;AC074212.5,upstream_gene_variant,,ENST00000592217,;DMPK,downstream_gene_variant,,ENST00000588522,;DMPK,downstream_gene_variant,,ENST00000600370,;DMPK,downstream_gene_variant,,ENST00000598272,;DMPK,downstream_gene_variant,,ENST00000596686,;	1119	53	35	SUCCESS
ODF3L2	284451	.	GRCh37	19	474840	474840	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	31	0	ENST00000315489.4:c.-93G>T		p.*31*	ENST00000315489	NM_182577.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12027.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTCCCCAC	NONE	.	.	.	.	.	ENSP00000318029	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000315489	Transcript	.	.	ENSG00000181781	26841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OD3L2_HUMAN	ODF3L2	HGNC	.	.	UPI0000072898	SNV	ODF3L2,5_prime_UTR_variant,,ENST00000315489,;ODF3L2,5_prime_UTR_variant,,ENST00000382696,;ODF3L2,upstream_gene_variant,,ENST00000591681,;	144	31	25	SUCCESS
SHANK1	50944	.	GRCh37	19	51172194	51172194	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	18	0	ENST00000293441.1:c.3023C>A	p.Ala1008Asp	p.A1008D	ENST00000293441	NM_016148.2	1008	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS12799.1	3023	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.665)	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,missense_variant,p.Ala1016Asp,ENST00000391814,;SHANK1,missense_variant,p.Ala395Asp,ENST00000391813,;SHANK1,missense_variant,p.Ala999Asp,ENST00000359082,;SHANK1,missense_variant,p.Ala1008Asp,ENST00000293441,;SYT3,upstream_gene_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000468654,;	3042	18	14	SUCCESS
ZNF880	400713	.	GRCh37	19	52888381	52888381	+	synonymous_variant	Silent	SNP	A	A	G	rs560733920	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	59	187	1	ENST00000422689.2:c.1548A>G	p.Gly516=	p.G516=	ENST00000422689	NM_001145434.1	516	ggA/ggG	0	.	G:0.0015	.	G:0	.	G	G	protein_coding	YES	CCDS46164.1	1548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGAGAGAA	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377:SF108,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	G:0	.	ENSP00000406318	G:0	4/4	.	.	.	.	.	.	.	.	rs560733920	4/4	PASS	ENST00000422689	Transcript	.	G:0.0004	ENSG00000221923	37249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,synonymous_variant,p.%3D,ENST00000422689,;ZNF880,downstream_gene_variant,,ENST00000424032,;CTD-3018O17.3,downstream_gene_variant,,ENST00000601562,;CTD-3018O17.3,downstream_gene_variant,,ENST00000594119,;	1563	188	162	SUCCESS
ZNF808	388558	.	GRCh37	19	53056624	53056624	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	98	1	ENST00000359798.4:c.455T>A	p.Ile152Asn	p.I152N	ENST00000359798	NM_001039886.3	152	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS46167.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTATTAAAG	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276	.	.	ENSP00000352846	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359798	Transcript	.	.	ENSG00000198482	33230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	deleterious(0.01)	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,missense_variant,p.Ile152Asn,ENST00000461321,;ZNF808,missense_variant,p.Ile83Asn,ENST00000486474,;ZNF808,missense_variant,p.Ile152Asn,ENST00000359798,;ZNF808,missense_variant,p.Ile152Asn,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Ile83Asn,ENST00000487863,;	635	99	98	SUCCESS
C3	718	.	GRCh37	19	6707102	6707102	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	34	0	ENST00000245907.6:c.2230C>G	p.Leu744Val	p.L744V	ENST00000245907	NM_000064.2	744	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS32883.1	2230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGGTGGC	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	.	.	ENSP00000245907	.	17/41	.	.	.	.	.	.	.	.	.	17/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	deleterious(0.05)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Leu744Val,ENST00000245907,;C3,downstream_gene_variant,,ENST00000600763,;C3,upstream_gene_variant,,ENST00000602053,;	2323	35	34	SUCCESS
LPPR3	0	.	GRCh37	19	813158	813158	+	synonymous_variant	Silent	SNP	G	G	A	rs748405983	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	26	0	ENST00000520876.3:c.1569C>T	p.Ala523=	p.A523=	ENST00000520876	NM_001270366.1	523	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12043.1	1653	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTCTCGGCCAT	NONE	byFrequency	.	.	.	.	ENSP00000352962	.	7/7	.	.	.	.	.	.	.	.	rs748405983	7/7	PASS	ENST00000359894	Transcript	.	.	ENSG00000129951	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	LPPR3	Uniprot_gn	K7ELK5_HUMAN	.	UPI00000730B6	SNV	LPPR3,synonymous_variant,p.%3D,ENST00000520876,;LPPR3,synonymous_variant,p.%3D,ENST00000359894,;PTBP1,downstream_gene_variant,,ENST00000349038,;PTBP1,downstream_gene_variant,,ENST00000394601,;PTBP1,downstream_gene_variant,,ENST00000585956,;PTBP1,downstream_gene_variant,,ENST00000356948,;LPPR3,downstream_gene_variant,,ENST00000519502,;LPPR3,downstream_gene_variant,,ENST00000517665,;PTBP1,downstream_gene_variant,,ENST00000350092,;MIR3187,upstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000589770,;PTBP1,downstream_gene_variant,,ENST00000585932,;PTBP1,downstream_gene_variant,,ENST00000587191,;PTBP1,downstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000586944,;	1717	26	25	SUCCESS
MBD3L1	85509	.	GRCh37	19	8953470	8953470	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1335218374	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	150	0	ENST00000305625.2:c.116T>C	p.Val39Ala	p.V39A	ENST00000305625	NM_145208.2	39	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12209.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTAACGA	NONE	.	.	hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF1	.	.	ENSP00000471575	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000595891	Transcript	.	.	ENSG00000170948	15774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MB3L1_HUMAN	MBD3L1	HGNC	.	.	UPI000013EA77	SNV	MBD3L1,missense_variant,p.Val39Ala,ENST00000595891,;MBD3L1,missense_variant,p.Val39Ala,ENST00000305625,;	347	150	110	SUCCESS
EFNA4	1945	.	GRCh37	1	155036243	155036243	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	63	73	0	ENST00000368409.3:c.-57T>C		p.*19*	ENST00000368409	NM_005227.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44237.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTCGACT	NONE	.	.	.	.	.	ENSP00000414378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000427683	Transcript	.	.	ENSG00000243364	3224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFNA4_HUMAN	EFNA4	HGNC	.	.	UPI00001B5785	SNV	EFNA4,5_prime_UTR_variant,,ENST00000368409,;EFNA3,5_prime_UTR_variant,,ENST00000556931,;EFNA4,5_prime_UTR_variant,,ENST00000427683,;EFNA3,5_prime_UTR_variant,,ENST00000505139,;EFNA4,5_prime_UTR_variant,,ENST00000359751,;ADAM15,downstream_gene_variant,,ENST00000531455,;ADAM15,downstream_gene_variant,,ENST00000355956,;ADAM15,downstream_gene_variant,,ENST00000449910,;ADAM15,downstream_gene_variant,,ENST00000271836,;ADAM15,downstream_gene_variant,,ENST00000359280,;ADAM15,downstream_gene_variant,,ENST00000368412,;ADAM15,downstream_gene_variant,,ENST00000356955,;ADAM15,downstream_gene_variant,,ENST00000360674,;ADAM15,downstream_gene_variant,,ENST00000368410,;ADAM15,downstream_gene_variant,,ENST00000368413,;ADAM15,downstream_gene_variant,,ENST00000468053,;ADAM15,downstream_gene_variant,,ENST00000461234,;ADAM15,downstream_gene_variant,,ENST00000472434,;ADAM15,downstream_gene_variant,,ENST00000474709,;ADAM15,downstream_gene_variant,,ENST00000462116,;ADAM15,downstream_gene_variant,,ENST00000461564,;ADAM15,downstream_gene_variant,,ENST00000529473,;ADAM15,downstream_gene_variant,,ENST00000527418,;ADAM15,downstream_gene_variant,,ENST00000526491,;ADAM15,downstream_gene_variant,,ENST00000498481,;ADAM15,downstream_gene_variant,,ENST00000464824,;	7	73	128	SUCCESS
OR6K2	81448	.	GRCh37	1	158669714	158669714	+	synonymous_variant	Silent	SNP	G	G	A	rs1373077647	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	273	39	210	0	ENST00000359610.2:c.729C>T	p.Val243=	p.V243=	ENST00000359610	NM_001005279.1	243	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30902.1	729	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAGACACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,synonymous_variant,p.%3D,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	773	210	312	SUCCESS
OR6N1	128372	.	GRCh37	1	158735540	158735540	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	59	0	ENST00000335094.2:c.933G>A	p.Leu311=	p.L311=	ENST00000335094	NM_001005185.1	311	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30905.1	933	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCCAATAT	NONE	.	.	hmmpanther:PTHR26453:SF123,hmmpanther:PTHR26453	.	.	ENSP00000335535	.	1/1	.	.	.	.	.	.	.	.	COSM346550	1/1	PASS	ENST00000335094	Transcript	.	.	ENSG00000197403	15034	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	OR6N1_HUMAN	OR6N1	HGNC	.	.	UPI000003FE15	SNV	OR6N1,synonymous_variant,p.%3D,ENST00000335094,;	953	59	90	SUCCESS
GPR161	23432	.	GRCh37	1	168066166	168066166	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	17	147	0	ENST00000367835.1:c.679G>A	p.Val227Ile	p.V227I	ENST00000367835	NM_001267610.1	227	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS58043.1	739	RADIA|MUTECT|MUSE|VARSCANS	.	GACGACTGTGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF246,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000441039	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000537209	Transcript	.	.	ENSG00000143147	23694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.06)	.	tolerated(0.17)	.	GP161_HUMAN	GPR161	HGNC	.	.	UPI0002065201	SNV	GPR161,missense_variant,p.Val227Ile,ENST00000367835,;GPR161,missense_variant,p.Val227Ile,ENST00000271357,;GPR161,missense_variant,p.Val149Ile,ENST00000539777,;GPR161,missense_variant,p.Val113Ile,ENST00000546300,;GPR161,missense_variant,p.Val95Ile,ENST00000367836,;GPR161,missense_variant,p.Val227Ile,ENST00000361697,;GPR161,missense_variant,p.Val227Ile,ENST00000367838,;GPR161,missense_variant,p.Val247Ile,ENST00000537209,;GPR161,non_coding_transcript_exon_variant,,ENST00000493800,;	988	147	161	SUCCESS
PAPPA2	60676	.	GRCh37	1	176762739	176762739	+	synonymous_variant	Silent	SNP	C	C	T	rs777455062	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	100	118	0	ENST00000367662.3:c.5064C>T	p.Pro1688=	p.P1688=	ENST00000367662	NM_020318.2	1688	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41438.1	5064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCGTGAT	CODON|p.V1689M|c.5065G>A|3	byFrequency	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325	.	.	ENSP00000356634	.	20/23	.	.	.	.	.	.	.	.	rs777455062	20/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,synonymous_variant,p.%3D,ENST00000367662,;PAPPA2,non_coding_transcript_exon_variant,,ENST00000479836,;	6228	118	151	SUCCESS
PTPRC	5788	.	GRCh37	1	198608195	198608195	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	13	0	ENST00000442510.2:c.-116A>G		p.*39*	ENST00000442510				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1397.2	.	MUTECT|MUSE	.	CATGCAGCTAG	NONE	.	.	.	.	.	ENSP00000411355	.	1/33	.	.	.	.	.	.	.	.	.	1/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,5_prime_UTR_variant,,ENST00000598951,;PTPRC,5_prime_UTR_variant,,ENST00000352140,;PTPRC,5_prime_UTR_variant,,ENST00000442510,;PTPRC,5_prime_UTR_variant,,ENST00000367376,;PTPRC,5_prime_UTR_variant,,ENST00000594404,;PTPRC,5_prime_UTR_variant,,ENST00000530727,;PTPRC,intron_variant,,ENST00000367379,;PTPRC,upstream_gene_variant,,ENST00000348564,;PTPRC,upstream_gene_variant,,ENST00000418674,;PTPRC,upstream_gene_variant,,ENST00000413409,;PTPRC,upstream_gene_variant,,ENST00000367367,;PTPRC,upstream_gene_variant,,ENST00000367364,;PTPRC,upstream_gene_variant,,ENST00000427110,;PTPRC,upstream_gene_variant,,ENST00000391970,;PTPRC,upstream_gene_variant,,ENST00000529828,;PTPRC,upstream_gene_variant,,ENST00000462363,;	26	13	10	SUCCESS
KDM5B	10765	.	GRCh37	1	202702884	202702884	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	40	138	0	ENST00000367265.3:c.3554C>T	p.Pro1185Leu	p.P1185L	ENST00000367265	NM_006618.3	1185	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS30974.1	3554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGGGGCC	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Pfam_domain:PF00628,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3,PROSITE_profiles:PS50016	.	.	ENSP00000356234	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000367265	Transcript	.	.	ENSG00000117139	18039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.11)	.	KDM5B_HUMAN	KDM5B	HGNC	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN	.	UPI0000032AA2	SNV	KDM5B,missense_variant,p.Pro1027Leu,ENST00000235790,;KDM5B,missense_variant,p.Pro1221Leu,ENST00000367264,;KDM5B,missense_variant,p.Pro1185Leu,ENST00000367265,;KDM5B,non_coding_transcript_exon_variant,,ENST00000472822,;KDM5B,upstream_gene_variant,,ENST00000491153,;	4719	138	182	SUCCESS
MIA3	375056	.	GRCh37	1	222817733	222817733	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	38	0	ENST00000344922.5:c.3478-1163C>G		p.*1160*	ENST00000344922	NM_198551.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41470.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCTTTCC	NONE	.	.	.	.	.	ENSP00000340900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	MODIFIER	6/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,5_prime_UTR_variant,,ENST00000340535,;MIA3,intron_variant,,ENST00000354906,;MIA3,intron_variant,,ENST00000344922,;MIA3,intron_variant,,ENST00000344441,;MIA3,intron_variant,,ENST00000344507,;MIA3,intron_variant,,ENST00000470521,;MIA3,upstream_gene_variant,,ENST00000495210,;MIA3,upstream_gene_variant,,ENST00000467190,;RP11-378J18.6,upstream_gene_variant,,ENST00000413568,;	.	38	53	SUCCESS
LYST	1130	.	GRCh37	1	235955183	235955183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	71	126	0	ENST00000389793.2:c.4359A>G	p.Ile1453Met	p.I1453M	ENST00000389793	NM_000081.3	1453	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS31062.1	4359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTATGTG	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	12/53	.	.	.	.	.	.	.	.	.	12/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious(0.01)	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,missense_variant,p.Ile1453Met,ENST00000389793,;LYST,missense_variant,p.Ile1453Met,ENST00000389794,;LYST,intron_variant,,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;LYST,upstream_gene_variant,,ENST00000492844,;	4534	126	156	SUCCESS
AHCTF1	25909	.	GRCh37	1	247025382	247025382	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	423	37	330	1	ENST00000326225.3:c.3641C>T	p.Ser1214Phe	p.S1214F	ENST00000326225	NM_015446.4	1214	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS1629.2	3641	MUTECT|MUSE|VARSCANS	.	GAGTAGACCTC	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Ser1205Phe,ENST00000391829,;AHCTF1,missense_variant,p.Ser1240Phe,ENST00000366508,;AHCTF1,missense_variant,p.Ser1214Phe,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000477526,;	3738	331	461	SUCCESS
OR2L8	391190	.	GRCh37	1	248112256	248112256	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1269026294	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	87	125	0	ENST00000357191.3:c.97A>G	p.Ile33Val	p.I33V	ENST00000357191	NM_001001963.1	33	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31101.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCATTTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000349719	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357191	Transcript	.	.	ENSG00000196936	15014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.36)	.	OR2L8_HUMAN	OR2L8	HGNC	.	.	UPI0000061E5D	SNV	OR2L8,missense_variant,p.Ile33Val,ENST00000357191,;OR2L13,intron_variant,,ENST00000366478,;	97	125	194	SUCCESS
RP11-334A14.2	0	.	GRCh37	1	53458965	53458965	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs755949566	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	23	177	0	ENST00000414168.1:n.410G>A		p.*137*	ENST00000414168				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS572.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAACCCGGACA	NONE	byFrequency	.	.	.	.	ENSP00000360569	.	.	.	.	.	.	.	.	.	.	rs755949566	.	PASS	ENST00000371514	Transcript	.	.	ENSG00000116171	10606	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NLTP_HUMAN	SCP2	HGNC	.	.	UPI0000130258	SNV	SCP2,3_prime_UTR_variant,,ENST00000371513,;SCP2,intron_variant,,ENST00000371514,;SCP2,intron_variant,,ENST00000528311,;SCP2,intron_variant,,ENST00000371509,;SCP2,intron_variant,,ENST00000407246,;SCP2,3_prime_UTR_variant,,ENST00000478631,;RP11-334A14.2,non_coding_transcript_exon_variant,,ENST00000442174,;RP11-334A14.2,non_coding_transcript_exon_variant,,ENST00000414168,;TUBBP10,upstream_gene_variant,,ENST00000427668,;	.	177	225	SUCCESS
REM1	28954	.	GRCh37	20	30070268	30070268	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199660041	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	69	0	ENST00000201979.2:c.602G>A	p.Arg201His	p.R201H	ENST00000201979	NM_014012.5	201	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS13181.1	602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGCTGCC	SITE|p.R201H|c.602G>A|3	byCluster|by1000G	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,PIRSF_domain:PIRSF038017,Superfamily_domains:SSF52540	A:0	.	ENSP00000201979	A:0.001	4/5	.	.	.	.	.	.	.	.	rs199660041,COSM1410944	4/5	PASS	ENST00000201979	Transcript	.	A:0.0002	ENSG00000088320	15922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	A:0	deleterious(0)	0,1	REM1_HUMAN	REM1	HGNC	.	.	UPI0000073CEB	SNV	REM1,missense_variant,p.Arg201His,ENST00000201979,;LINC00028,upstream_gene_variant,,ENST00000435497,;	895	69	56	SUCCESS
ADRA1D	146	.	GRCh37	20	4202607	4202607	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	58	0	ENST00000379453.4:c.1282C>T	p.Arg428Cys	p.R428C	ENST00000379453	NM_000678.3	428	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13079.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14	.	.	ENSP00000368766	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious(0.01)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.Arg428Cys,ENST00000379453,;	1399	58	42	SUCCESS
ARFGEF2	10564	.	GRCh37	20	47605200	47605200	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	60	200	0	ENST00000371917.4:c.2533+1G>A		p.X845_splice	ENST00000371917	NM_006420.2	845		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13411.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGTAAGG	NONE	.	.	.	.	.	ENSP00000360985	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371917	Transcript	1	.	ENSG00000124198	15853	.	.	HIGH	18/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIG2_HUMAN	ARFGEF2	HGNC	Q59FR3_HUMAN	.	UPI000013D378	SNV	ARFGEF2,splice_donor_variant,,ENST00000371917,;	.	200	171	SUCCESS
TSPEAR	54084	.	GRCh37	21	46020913	46020913	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	93	0	ENST00000323084.4:c.83-33024A>G		p.*28*	ENST00000323084	NM_001272037.1	131		0	.	.	.	.	.	C	V/A	protein_coding	YES	.	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF40,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000369445	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380102	Transcript	.	.	ENSG00000205441	22970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.31)	.	KR107_HUMAN	KRTAP10-7	HGNC	.	.	UPI000036709B	SNV	KRTAP10-7,missense_variant,p.Val131Ala,ENST00000380102,;TSPEAR,intron_variant,,ENST00000323084,;AL773602.1,non_coding_transcript_exon_variant,,ENST00000339001,;	417	93	66	SUCCESS
HIRA	7290	.	GRCh37	22	19373215	19373215	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	65	0	ENST00000263208.5:c.1158G>A	p.Met386Ile	p.M386I	ENST00000263208	NM_003325.3	386	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13759.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTCATGAT	NONE	.	.	hmmpanther:PTHR13831:SF0,hmmpanther:PTHR13831	.	.	ENSP00000263208	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000263208	Transcript	.	.	ENSG00000100084	4916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.44)	.	HIRA_HUMAN	HIRA	HGNC	F5H4M2_HUMAN	.	UPI0000074373	SNV	HIRA,missense_variant,p.Met342Ile,ENST00000541063,;HIRA,missense_variant,p.Met386Ile,ENST00000340170,;HIRA,missense_variant,p.Met386Ile,ENST00000263208,;HIRA,missense_variant,p.Met342Ile,ENST00000546308,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;	1415	65	75	SUCCESS
BCR	613	.	GRCh37	22	23632562	23632562	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1328058055	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	67	0	ENST00000305877.8:c.2744T>C	p.Val915Ala	p.V915A	ENST00000305877	NM_004327.3	915	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13806.1	2744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTCATCG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR23182:SF3,hmmpanther:PTHR23182,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000303507	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000305877	Transcript	.	.	ENSG00000186716	1014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	deleterious(0.03)	.	BCR_HUMAN	BCR	HGNC	.	.	UPI000016A088	SNV	BCR,missense_variant,p.Val915Ala,ENST00000359540,;BCR,missense_variant,p.Val915Ala,ENST00000305877,;BCR,intron_variant,,ENST00000419722,;BCR,upstream_gene_variant,,ENST00000471452,;BCR,non_coding_transcript_exon_variant,,ENST00000487968,;BCR,downstream_gene_variant,,ENST00000466076,;	3495	67	67	SUCCESS
KB-1572G7.2	0	.	GRCh37	22	24057304	24057304	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	44	0	ENST00000421064.1:n.318C>T		p.*106*	ENST00000421064				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGACAAA	NONE	.	.	.	.	.	.	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000421064	Transcript	.	.	ENSG00000273000	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KB-1572G7.2	Clone_based_vega_gene	.	.	.	SNV	GUSBP11,non_coding_transcript_exon_variant,,ENST00000452737,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000445682,;KB-1572G7.2,non_coding_transcript_exon_variant,,ENST00000421064,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000451837,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000437294,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000422506,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000444220,;AP000347.2,intron_variant,,ENST00000432595,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000435868,;	318	44	33	SUCCESS
SREBF2	6721	.	GRCh37	22	42269979	42269979	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	49	185	0	ENST00000361204.4:c.1045A>G	p.Lys349Glu	p.K349E	ENST00000361204	NM_004599.3	349	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS14023.1	1045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACAAAATC	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000354476	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	SNV	SREBF2,missense_variant,p.Lys349Glu,ENST00000361204,;SREBF2,missense_variant,p.Lys349Glu,ENST00000424354,;SREBF2,non_coding_transcript_exon_variant,,ENST00000462539,;SREBF2,upstream_gene_variant,,ENST00000464119,;	1211	185	205	SUCCESS
PLGLA	285189	.	GRCh37	2	107007848	107007848	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	27	169	0	ENST00000324709.4:n.846C>G		p.*282*	ENST00000324709				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACCAGAAT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000324709	Transcript	.	.	ENSG00000240935	9074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLGLA	HGNC	.	.	.	SNV	PLGLA,non_coding_transcript_exon_variant,,ENST00000484422,;PLGLA,intron_variant,,ENST00000482249,;PLGLA,non_coding_transcript_exon_variant,,ENST00000324709,;PLGLA,intron_variant,,ENST00000465668,;	846	169	104	SUCCESS
RANBP2	5903	.	GRCh37	2	109381547	109381547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1178166510	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	105	0	ENST00000283195.6:c.4552C>T	p.Pro1518Ser	p.P1518S	ENST00000283195	NM_006267.4	1518	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2079.1	4552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACACCTGCC	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Pro1518Ser,ENST00000283195,;	4678	105	83	SUCCESS
SCN7A	6332	.	GRCh37	2	167288893	167288893	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	93	0	ENST00000409855.1:c.2527T>A	p.Ser843Thr	p.S843T	ENST00000409855	NM_002976.3	843	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS46442.1	2527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGATTCTC	NONE	.	.	Pfam_domain:PF06512,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.06)	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,missense_variant,p.Ser843Thr,ENST00000409855,;SCN7A,missense_variant,p.Ser843Thr,ENST00000419992,;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	2654	93	48	SUCCESS
NUP35	129401	.	GRCh37	2	184022187	184022187	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	40	0	ENST00000295119.4:c.555T>A	p.Ser185=	p.S185=	ENST00000295119	NM_138285.3	185	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2290.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCTGCTTC	NONE	.	.	PROSITE_profiles:PS51472,hmmpanther:PTHR21527,Pfam_domain:PF05172,PIRSF_domain:PIRSF038119,Superfamily_domains:SSF54928	.	.	ENSP00000295119	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000295119	Transcript	.	.	ENSG00000163002	29797	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP53_HUMAN	NUP35	HGNC	C9JWU7_HUMAN,C9JIY9_HUMAN,C9IYQ7_HUMAN,B4DYB4_HUMAN,B4DP57_HUMAN	.	UPI000000DBA2	SNV	NUP35,synonymous_variant,p.%3D,ENST00000541912,;NUP35,synonymous_variant,p.%3D,ENST00000295119,;NUP35,synonymous_variant,p.%3D,ENST00000409798,;NUP35,missense_variant,p.Leu138Gln,ENST00000374930,;NUP35,non_coding_transcript_exon_variant,,ENST00000479162,;	658	40	43	SUCCESS
MFSD6	54842	.	GRCh37	2	191334570	191334570	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	69	0	ENST00000281416.7:c.1619A>C	p.Glu540Ala	p.E540A	ENST00000281416		540	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS2306.1	1619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGAAGTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16172:SF2,hmmpanther:PTHR16172,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000376141	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000392328	Transcript	.	.	ENSG00000151690	24711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MFSD6_HUMAN	MFSD6	HGNC	C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN	.	UPI000022BD91	SNV	MFSD6,missense_variant,p.Glu76Ala,ENST00000434582,;MFSD6,missense_variant,p.Glu540Ala,ENST00000281416,;MFSD6,missense_variant,p.Glu540Ala,ENST00000392328,;MFSD6,missense_variant,p.Glu2Ala,ENST00000444317,;MFSD6,missense_variant,p.Glu2Ala,ENST00000535751,;MFSD6,non_coding_transcript_exon_variant,,ENST00000489793,;	1943	69	57	SUCCESS
NIF3L1	60491	.	GRCh37	2	201761868	201761868	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	141	0	ENST00000409020.1:c.796A>C	p.Ile266Leu	p.I266L	ENST00000409020		266	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS46485.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGATTGAT	NONE	.	.	hmmpanther:PTHR13799:SF13,hmmpanther:PTHR13799,TIGRFAM_domain:TIGR00486,Gene3D:3.40.1390.30,Pfam_domain:PF01784,PIRSF_domain:PIRSF037490,Superfamily_domains:SSF102705	.	.	ENSP00000386394	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000409020	Transcript	.	.	ENSG00000196290	13390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.08)	.	GTPC1_HUMAN	NIF3L1	HGNC	Q658J0_HUMAN,E7EXA3_HUMAN,C9JN42_HUMAN,B8ZZI0_HUMAN	.	UPI0000169B54	SNV	NIF3L1,missense_variant,p.Ile25Leu,ENST00000436412,;NIF3L1,missense_variant,p.Ile266Leu,ENST00000416651,;NIF3L1,missense_variant,p.Ile266Leu,ENST00000409020,;NIF3L1,missense_variant,p.Ile266Leu,ENST00000409357,;NIF3L1,missense_variant,p.Ile239Leu,ENST00000359683,;NIF3L1,intron_variant,,ENST00000409588,;NIF3L1,downstream_gene_variant,,ENST00000454952,;NIF3L1,downstream_gene_variant,,ENST00000426253,;NIF3L1,downstream_gene_variant,,ENST00000409129,;RNU6-762P,upstream_gene_variant,,ENST00000517107,;	1090	141	75	SUCCESS
ABCA12	26154	.	GRCh37	2	215852376	215852376	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	10	235	0	ENST00000272895.7:c.3971C>A	p.Ser1324Tyr	p.S1324Y	ENST00000272895	NM_173076.2	1324	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS33372.1	3971	MUTECT|MUSE	.	TGGCAGATGGG	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	27/53	.	.	.	.	.	.	.	.	COSM1306405	27/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.157)	.	tolerated(1)	1	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Ser1006Tyr,ENST00000389661,;ABCA12,missense_variant,p.Ser1324Tyr,ENST00000272895,;	4191	235	207	SUCCESS
PRKAG3	53632	.	GRCh37	2	219692330	219692330	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	86	0	ENST00000233944.3:c.843C>G	p.Phe281Leu	p.F281L	ENST00000233944		281	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2424.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTGAAGCA	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR13780:SF31,hmmpanther:PTHR13780,Gene3D:3.10.580.10,Superfamily_domains:SSF54631	.	.	ENSP00000436068	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000529249	Transcript	.	.	ENSG00000115592	9387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.24)	.	AAKG3_HUMAN	PRKAG3	HGNC	B4DT70_HUMAN	.	UPI0000043D98	SNV	PRKAG3,stop_gained,p.Ser266Ter,ENST00000392098,;PRKAG3,missense_variant,p.Phe97Leu,ENST00000545803,;PRKAG3,missense_variant,p.Phe256Leu,ENST00000439262,;PRKAG3,missense_variant,p.Phe281Leu,ENST00000529249,;PRKAG3,downstream_gene_variant,,ENST00000430489,;PRKAG3,stop_gained,p.Ser266Ter,ENST00000470307,;PRKAG3,missense_variant,p.Phe281Leu,ENST00000233944,;PRKAG3,non_coding_transcript_exon_variant,,ENST00000490971,;	1159	86	84	SUCCESS
NLRC4	58484	.	GRCh37	2	32476106	32476106	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	62	0	ENST00000360906.5:c.827T>A	p.Ile276Asn	p.I276N	ENST00000360906	NM_001199139.1	276	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS33174.1	827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGATGACC	NONE	.	.	hmmpanther:PTHR10044:SF97,hmmpanther:PTHR10044,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000385090	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000404025	Transcript	.	.	ENSG00000091106	16412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	deleterious(0.03)	.	NLRC4_HUMAN	NLRC4	HGNC	.	.	UPI0000126FAD	SNV	NLRC4,missense_variant,p.Ile276Asn,ENST00000402280,;NLRC4,missense_variant,p.Ile276Asn,ENST00000360906,;NLRC4,missense_variant,p.Ile276Asn,ENST00000404025,;NLRC4,intron_variant,,ENST00000342905,;	1316	62	54	SUCCESS
BIRC6	57448	.	GRCh37	2	32724675	32724675	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	72	0	ENST00000421745.2:c.8530C>T	p.Leu2844=	p.L2844=	ENST00000421745	NM_016252.3	2844	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33175.2	8530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCTGGAG	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	46/74	.	.	.	.	.	.	.	.	COSM1614795,COSM1614794	46/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,synonymous_variant,p.%3D,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000497023,;	8664	72	62	SUCCESS
CNGA3	1261	.	GRCh37	2	99012481	99012481	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104893614	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	57	170	0	ENST00000272602.2:c.848G>A	p.Arg283Gln	p.R283Q	ENST00000272602		283	cGg/cAg	0	.	A:0.0008	.	A:0	.	A	R/Q	protein_coding	YES	CCDS2034.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TTCCCGGCTCT	BUFFER|p.S282F|c.845C>T|4	byCluster|by1000G	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	A:0	.	ENSP00000377140	A:0	8/8	.	.	.	.	.	.	.	.	CM980375,rs104893614,COSM1580002	8/8	PASS	ENST00000393504	Transcript	.	A:0.0002	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.979)	A:0	deleterious(0.01)	0,0,1	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Arg287Gln,ENST00000409937,;CNGA3,missense_variant,p.Arg283Gln,ENST00000393504,;CNGA3,missense_variant,p.Arg265Gln,ENST00000436404,;CNGA3,missense_variant,p.Arg283Gln,ENST00000272602,;	1265	170	155	SUCCESS
GOLGB1	2804	.	GRCh37	3	121410757	121410757	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1337529584	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	134	0	ENST00000340645.5:c.7439A>G	p.Tyr2480Cys	p.Y2480C	ENST00000340645	NM_001256487.1	2480	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS58847.1	7454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGATAGTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,missense_variant,p.Tyr2485Cys,ENST00000393667,;GOLGB1,missense_variant,p.Tyr2480Cys,ENST00000340645,;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	7565	134	82	SUCCESS
DTX3L	151636	.	GRCh37	3	122284854	122284854	+	synonymous_variant	Silent	SNP	G	G	A	rs764423884	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	38	157	0	ENST00000296161.4:c.336G>A	p.Pro112=	p.P112=	ENST00000296161	NM_138287.3	112	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3015.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCGTCTGG	NONE	byFrequency	.	hmmpanther:PTHR12622:SF23,hmmpanther:PTHR12622	.	.	ENSP00000296161	.	2/5	.	.	.	.	.	.	.	.	rs764423884	2/5	PASS	ENST00000296161	Transcript	.	.	ENSG00000163840	30323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTX3L_HUMAN	DTX3L	HGNC	.	.	UPI000000D9D0	SNV	DTX3L,synonymous_variant,p.%3D,ENST00000296161,;DTX3L,synonymous_variant,p.%3D,ENST00000383661,;PARP9,upstream_gene_variant,,ENST00000471785,;PARP9,upstream_gene_variant,,ENST00000492382,;PARP9,upstream_gene_variant,,ENST00000477522,;PARP9,upstream_gene_variant,,ENST00000462315,;PARP9,upstream_gene_variant,,ENST00000360356,;PARP9,upstream_gene_variant,,ENST00000466126,;	525	157	100	SUCCESS
P2RY1	5028	.	GRCh37	3	152554320	152554320	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768092598	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	104	0	ENST00000305097.3:c.749A>T	p.Asp250Val	p.D250V	ENST00000305097	NM_002563.3	250	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS3169.1	749	RADIA|MUTECT|MUSE	.	TCTGGACAACT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	rs768092598	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.197)	.	tolerated(0.18)	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,missense_variant,p.Asp250Val,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	1585	104	81	SUCCESS
SDHAP1	255812	.	GRCh37	3	195711102	195711102	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	61	0	ENST00000427841.1:n.631A>C		p.*211*	ENST00000427841				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAATCTTCC	NONE	.	.	.	.	.	.	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000427841	Transcript	.	.	ENSG00000185485	32455	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SDHAP1	HGNC	.	.	.	SNV	SDHAP1,non_coding_transcript_exon_variant,,ENST00000413474,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000427841,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000435731,;SDHAP1,downstream_gene_variant,,ENST00000427415,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000440850,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000538515,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000354937,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000545003,;	631	61	58	SUCCESS
ZNF860	344787	.	GRCh37	3	32030428	32030428	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs529743590	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	33	0	ENST00000360311.4:c.-144C>A		p.*48*	ENST00000360311	NM_001137674.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS46784.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGACTG	NONE	by1000G	.	.	T:0.001	.	ENSP00000373274	T:0	2/2	.	.	.	.	.	.	.	.	rs529743590	2/2	PASS	ENST00000360311	Transcript	.	T:0.0002	ENSG00000197385	34513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN860_HUMAN	ZNF860	HGNC	.	.	UPI0000D61AE9	SNV	ZNF860,5_prime_UTR_variant,,ENST00000360311,;OSBPL10,intron_variant,,ENST00000479173,;ZNF860,downstream_gene_variant,,ENST00000489408,;	406	33	23	SUCCESS
ACVR2B	93	.	GRCh37	3	38520626	38520626	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1186630570	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	70	235	0	ENST00000352511.4:c.674A>G	p.Gln225Arg	p.Q225R	ENST00000352511	NM_001106.3	225	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS2679.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCAGTCGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57,Gene3D:3.30.200.20,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000340361	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000352511	Transcript	.	.	ENSG00000114739	174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	AVR2B_HUMAN	ACVR2B	HGNC	Q71UM3_HUMAN,Q4VAU9_HUMAN	.	UPI00001AF0AE	SNV	ACVR2B,missense_variant,p.Gln225Arg,ENST00000352511,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;	1146	235	178	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913412	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	49	181	1	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2694.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTACCACA	SITE|p.T41A|c.121A>G|828,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T40I|c.119C>T|11,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5664,COSM5688,COSM5716	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	401	182	124	SUCCESS
RAD54L2	23132	.	GRCh37	3	51664804	51664804	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs775718895	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	60	0	ENST00000409535.2:c.682G>T	p.Glu228Ter	p.E228*	ENST00000409535	NM_015106.2	228	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33765.2	682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGAAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799	.	.	ENSP00000386520	.	6/22	.	.	.	.	.	.	.	.	rs775718895	6/22	PASS	ENST00000409535	Transcript	.	.	ENSG00000164080	29123	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARIP4_HUMAN	RAD54L2	HGNC	E7EU19_HUMAN	.	UPI000022C0AA	SNV	RAD54L2,stop_gained,p.Glu57Ter,ENST00000432863,;RAD54L2,stop_gained,p.Glu228Ter,ENST00000409535,;RAD54L2,5_prime_UTR_variant,,ENST00000296477,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000462377,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;	807	60	52	SUCCESS
PSMD6	9861	.	GRCh37	3	64004653	64004653	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	56	245	0	ENST00000295901.4:c.558T>G	p.Leu186=	p.L186=	ENST00000295901	NM_014814.2	186	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS2901.1	558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATAAAGACC	NONE	.	.	hmmpanther:PTHR14145:SF1,hmmpanther:PTHR14145,Pfam_domain:PF10602,Superfamily_domains:SSF48452	.	.	ENSP00000295901	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000295901	Transcript	.	.	ENSG00000163636	9564	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMD6_HUMAN	PSMD6	HGNC	.	.	UPI0000132787	SNV	PSMD6,synonymous_variant,p.%3D,ENST00000497323,;PSMD6,synonymous_variant,p.%3D,ENST00000394431,;PSMD6,synonymous_variant,p.%3D,ENST00000480205,;PSMD6,synonymous_variant,p.%3D,ENST00000492933,;PSMD6,synonymous_variant,p.%3D,ENST00000482510,;PSMD6,synonymous_variant,p.%3D,ENST00000295901,;PSMD6,downstream_gene_variant,,ENST00000478185,;RP11-245J9.6,upstream_gene_variant,,ENST00000605919,;RP11-245J9.4,downstream_gene_variant,,ENST00000462717,;PSMD6,non_coding_transcript_exon_variant,,ENST00000476464,;PSMD6,non_coding_transcript_exon_variant,,ENST00000497315,;PSMD6,non_coding_transcript_exon_variant,,ENST00000475036,;PSMD6,upstream_gene_variant,,ENST00000467853,;	699	245	172	SUCCESS
SHQ1	55164	.	GRCh37	3	72873605	72873605	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1207403318	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	100	0	ENST00000325599.8:c.697A>G	p.Ser233Gly	p.S233G	ENST00000325599	NM_018130.2	233	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS33788.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTCTTTT	NONE	.	.	Pfam_domain:PF04925,hmmpanther:PTHR12967:SF0,hmmpanther:PTHR12967	.	.	ENSP00000315182	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000325599	Transcript	.	.	ENSG00000144736	25543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.06)	.	SHQ1_HUMAN	SHQ1	HGNC	C9J6N3_HUMAN	.	UPI00001416C5	SNV	SHQ1,missense_variant,p.Ser233Gly,ENST00000325599,;SHQ1,missense_variant,p.Ser205Gly,ENST00000463369,;SHQ1,3_prime_UTR_variant,,ENST00000444040,;	837	100	65	SUCCESS
H2AFZ	0	.	GRCh37	4	100870886	100870886	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	51	172	0	ENST00000296417.5:c.15G>C	p.Lys5Asn	p.K5N	ENST00000296417	NM_002106.3	5	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS3654.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCTTACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF34,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113	.	.	ENSP00000296417	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000296417	Transcript	.	.	ENSG00000164032	4741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious(0.05)	.	H2AZ_HUMAN	H2AFZ	HGNC	.	.	UPI0000000FEF	SNV	H2AFZ,missense_variant,p.Lys5Asn,ENST00000296417,;DNAJB14,upstream_gene_variant,,ENST00000442697,;RP11-15B17.1,upstream_gene_variant,,ENST00000507494,;RP11-15B17.1,upstream_gene_variant,,ENST00000501976,;RP11-15B17.1,upstream_gene_variant,,ENST00000514624,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000529158,;DNAJB14,upstream_gene_variant,,ENST00000471738,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511319,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511348,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000527366,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511203,;DNAJB14,upstream_gene_variant,,ENST00000398991,;DNAJB14,upstream_gene_variant,,ENST00000474664,;DNAJB14,upstream_gene_variant,,ENST00000334223,;DNAJB14,upstream_gene_variant,,ENST00000469942,;DNAJB14,upstream_gene_variant,,ENST00000426476,;	233	172	130	SUCCESS
WWC2	80014	.	GRCh37	4	184180883	184180883	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	86	264	0	ENST00000403733.3:c.1286+2T>G		p.X429_splice	ENST00000403733	NM_024949.5	429		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34109.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTGAGCT	NONE	.	.	.	.	.	ENSP00000384222	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403733	Transcript	.	.	ENSG00000151718	24148	.	.	HIGH	10/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WWC2_HUMAN	WWC2	HGNC	.	.	UPI000022C4C2	SNV	WWC2,splice_donor_variant,,ENST00000504005,;WWC2,splice_donor_variant,,ENST00000513834,;WWC2,splice_donor_variant,,ENST00000378925,;WWC2,splice_donor_variant,,ENST00000448232,;WWC2,splice_donor_variant,,ENST00000403733,;WWC2,splice_donor_variant,,ENST00000427431,;WWC2,splice_donor_variant,,ENST00000438543,;	.	265	195	SUCCESS
FAT1	2195	.	GRCh37	4	187510117	187510117	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758477097	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	60	208	0	ENST00000441802.2:c.13396A>G	p.Arg4466Gly	p.R4466G	ENST00000441802	NM_005245.3	4466	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS47177.1	13396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTAGGAG	NONE	.	.	hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026	.	.	ENSP00000406229	.	27/27	.	.	.	.	.	.	.	.	rs758477097	27/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,missense_variant,p.Arg4466Gly,ENST00000441802,;FAT1,missense_variant,p.Arg246Gly,ENST00000512772,;FAT1,missense_variant,p.Arg234Gly,ENST00000507105,;FAT1,downstream_gene_variant,,ENST00000509927,;FAT1,non_coding_transcript_exon_variant,,ENST00000500085,;FAT1,downstream_gene_variant,,ENST00000509537,;	13606	208	180	SUCCESS
REST	5978	.	GRCh37	4	57796354	57796355	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	181	84	223	0	ENST00000309042.7:c.1336dup	p.Thr446AsnfsTer18	p.T446Nfs*18	ENST00000309042	NM_005612.4	444	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS3509.1	1330-1331	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAATGAAAAA	NONE	.	.	hmmpanther:PTHR10032:SF71,hmmpanther:PTHR10032	.	.	ENSP00000311816	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309042	Transcript	.	.	ENSG00000084093	9966	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REST_HUMAN	REST	HGNC	.	.	UPI000013FBF6	insertion	REST,frameshift_variant,p.Thr446AsnfsTer18,ENST00000309042,;REST,downstream_gene_variant,,ENST00000514063,;	1644-1645	223	265	SUCCESS
AMTN	401138	.	GRCh37	4	71396893	71396893	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	80	314	1	ENST00000339336.4:c.495G>C	p.Gln165His	p.Q165H	ENST00000339336	NM_212557.2	165	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS3542.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGGGAAC	NONE	.	.	.	.	.	ENSP00000341013	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000339336	Transcript	.	.	ENSG00000187689	33188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.04)	.	AMTN_HUMAN	AMTN	HGNC	F1T0L8_HUMAN	.	UPI00000389F3	SNV	AMTN,missense_variant,p.Gln164His,ENST00000504451,;AMTN,missense_variant,p.Gln165His,ENST00000339336,;	625	315	247	SUCCESS
ST8SIA4	7903	.	GRCh37	5	100231434	100231434	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs768518296	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	36	111	0	ENST00000231461.5:c.169C>T	p.Arg57Ter	p.R57*	ENST00000231461	NM_005668.5	57	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS4091.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGAATGA	SITE|p.R57*|c.169C>T|3,CODON|p.R57Q|c.170G>A|3	.	.	PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF31	.	.	ENSP00000231461	.	2/5	.	.	.	.	.	.	.	.	rs768518296,COSM258098	2/5	PASS	ENST00000231461	Transcript	.	.	ENSG00000113532	10871	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SIA8D_HUMAN	ST8SIA4	HGNC	.	.	UPI0000135973	SNV	ST8SIA4,stop_gained,p.Arg57Ter,ENST00000451528,;ST8SIA4,stop_gained,p.Arg57Ter,ENST00000231461,;ST8SIA4,upstream_gene_variant,,ENST00000507360,;ST8SIA4,3_prime_UTR_variant,,ENST00000523381,;	480	111	128	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128861992	128861992	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	196	295	0	ENST00000274487.4:c.911G>C	p.Arg304Thr	p.R304T	ENST00000274487	NM_133638.3	304	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS4146.1	911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAGGTCTA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151	.	.	ENSP00000274487	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.14)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Arg304Thr,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,missense_variant,p.Arg89Thr,ENST00000502709,;ADAMTS19,3_prime_UTR_variant,,ENST00000505791,;	1056	295	321	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60825879	60825879	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	83	151	0	ENST00000252744.5:c.1838A>T	p.Glu613Val	p.E613V	ENST00000252744	NM_020928.1	613	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS47215.1	1838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGAGCTAC	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	tolerated(0.05)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Glu613Val,ENST00000252744,;	1838	151	139	SUCCESS
TFB1M	51106	.	GRCh37	6	155632360	155632360	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	42	100	0	ENST00000367166.4:c.247G>T	p.Val83Leu	p.V83L	ENST00000367166	NM_016020.3	83	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS5248.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACCAGAA	NONE	.	.	HAMAP:MF_00607,PROSITE_profiles:PS51689,hmmpanther:PTHR11727,hmmpanther:PTHR11727:SF10,PROSITE_patterns:PS01131,Gene3D:3.40.50.150,Pfam_domain:PF00398,SMART_domains:SM00650,Superfamily_domains:SSF53335	.	.	ENSP00000356134	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000367166	Transcript	.	.	ENSG00000029639	17037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated(0.23)	.	TFB1M_HUMAN	TFB1M	HGNC	E5KTM5_HUMAN	.	UPI000003B01A	SNV	TFB1M,missense_variant,p.Val83Leu,ENST00000367166,;TFB1M,non_coding_transcript_exon_variant,,ENST00000466349,;TFB1M,non_coding_transcript_exon_variant,,ENST00000475849,;TFB1M,non_coding_transcript_exon_variant,,ENST00000480390,;TFB1M,intron_variant,,ENST00000470239,;	303	100	119	SUCCESS
HLA-DQB2	3120	.	GRCh37	6	32724431	32724431	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	11	0	ENST00000411527.1:c.671-188C>A		p.*224*	ENST00000411527	NM_001198858.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGCAGAT	NONE	.	.	.	.	.	ENSP00000390431	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000411527	Transcript	.	.	ENSG00000232629	4945	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DQB2_HUMAN	HLA-DQB2	HGNC	.	.	UPI0000457414	SNV	HLA-DQB2,3_prime_UTR_variant,,ENST00000435145,;HLA-DQB2,intron_variant,,ENST00000437316,;HLA-DQB2,intron_variant,,ENST00000427449,;HLA-DQB2,intron_variant,,ENST00000411527,;	.	11	16	SUCCESS
UBR2	23304	.	GRCh37	6	42629942	42629942	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	57	0	ENST00000372899.1:c.3463A>G	p.Met1155Val	p.M1155V	ENST00000372899	NM_015255.2	1155	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS4870.1	3463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCATGCAC	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	31/47	.	.	.	.	.	.	.	.	.	31/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Met1155Val,ENST00000372901,;UBR2,missense_variant,p.Met1155Val,ENST00000372899,;UBR2,3_prime_UTR_variant,,ENST00000372883,;RNU6-890P,upstream_gene_variant,,ENST00000384121,;	3721	57	60	SUCCESS
MLIP	90523	.	GRCh37	6	54095631	54095631	+	synonymous_variant	Silent	SNP	A	A	G	rs1313193595	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	62	0	ENST00000274897.5:c.1233A>G	p.Pro411=	p.P411=	ENST00000274897	NM_138569.2	411	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS4954.1	1233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCAGGACC	NONE	.	.	hmmpanther:PTHR31514:SF1,hmmpanther:PTHR31514	.	.	ENSP00000274897	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000274897	Transcript	.	.	ENSG00000146147	21355	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLIP_HUMAN	MLIP	HGNC	.	.	UPI000013DA33	SNV	MLIP,synonymous_variant,p.%3D,ENST00000274897,;MLIP,synonymous_variant,p.%3D,ENST00000502396,;MLIP,intron_variant,,ENST00000358276,;MLIP,intron_variant,,ENST00000370876,;MLIP,intron_variant,,ENST00000509997,;MLIP,intron_variant,,ENST00000370877,;MLIP,downstream_gene_variant,,ENST00000514433,;	1346	62	67	SUCCESS
GPR63	81491	.	GRCh37	6	97246634	97246634	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	49	159	0	ENST00000229955.3:c.974T>C	p.Val325Ala	p.V325A	ENST00000229955	NM_030784.3	325	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS5036.1	974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGACAATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.09)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Val325Ala,ENST00000417980,;GPR63,missense_variant,p.Val325Ala,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	1320	159	160	SUCCESS
CFTR	1080	.	GRCh37	7	117243681	117243681	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	17	114	0	ENST00000003084.6:c.2753T>A	p.Ile918Asn	p.I918N	ENST00000003084	NM_000492.3	918	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS5773.1	2753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACATTTACG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF19,hmmpanther:PTHR24223,Pfam_domain:PF00664,TIGRFAM_domain:TIGR01271,Gene3D:2hydA01,Superfamily_domains:SSF90123,Prints_domain:PR01851	.	.	ENSP00000003084	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,missense_variant,p.Ile888Asn,ENST00000426809,;CFTR,missense_variant,p.Ile857Asn,ENST00000454343,;CFTR,missense_variant,p.Ile918Asn,ENST00000003084,;AC000111.6,downstream_gene_variant,,ENST00000456270,;	2885	114	102	SUCCESS
VWDE	221806	.	GRCh37	7	12433261	12433261	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	127	1	ENST00000275358.3:c.202A>T	p.Ile68Phe	p.I68F	ENST00000275358	NM_001135924.1	68	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS47544.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATGAGAA	NONE	.	.	.	.	.	ENSP00000275358	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	deleterious(0)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Ile68Phe,ENST00000275358,;VWDE,missense_variant,p.Ile68Phe,ENST00000452576,;VWDE,missense_variant,p.Ile68Phe,ENST00000326715,;VWDE,missense_variant,p.Ile68Phe,ENST00000521169,;	391	128	98	SUCCESS
ANKMY2	57037	.	GRCh37	7	16666729	16666729	+	synonymous_variant	Silent	SNP	T	T	A	rs775505829	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	73	0	ENST00000306999.2:c.207A>T	p.Gly69=	p.G69=	ENST00000306999	NM_020319.2	69	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5361.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCTCCATG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24150,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000303570	.	3/10	.	.	.	.	.	.	.	.	rs775505829	3/10	PASS	ENST00000306999	Transcript	.	.	ENSG00000106524	25370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKY2_HUMAN	ANKMY2	HGNC	.	.	UPI0000035D93	SNV	ANKMY2,synonymous_variant,p.%3D,ENST00000306999,;ANKMY2,non_coding_transcript_exon_variant,,ENST00000421746,;ANKMY2,synonymous_variant,p.%3D,ENST00000447802,;ANKMY2,3_prime_UTR_variant,,ENST00000453623,;	451	73	56	SUCCESS
PLEKHA8	84725	.	GRCh37	7	30102308	30102308	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	53	0	ENST00000449726.1:c.1250G>T	p.Gly417Val	p.G417V	ENST00000449726	NM_001197027.1	417	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS56473.1	1250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGATTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10219,hmmpanther:PTHR10219:SF16,Pfam_domain:PF08718,Gene3D:2i3fA00,Superfamily_domains:0043785	.	.	ENSP00000397947	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000449726	Transcript	.	.	ENSG00000106086	30037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	tolerated(0.15)	.	PKHA8_HUMAN	PLEKHA8	HGNC	.	.	UPI000020ECE0	SNV	PLEKHA8,missense_variant,p.Gly417Val,ENST00000258679,;PLEKHA8,missense_variant,p.Gly417Val,ENST00000396257,;PLEKHA8,missense_variant,p.Gly443Val,ENST00000440706,;PLEKHA8,missense_variant,p.Gly417Val,ENST00000396259,;PLEKHA8,missense_variant,p.Gly417Val,ENST00000449726,;	1600	53	50	SUCCESS
RADIL	55698	.	GRCh37	7	4917682	4917682	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760261239	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	65	0	ENST00000399583.3:c.89G>A	p.Arg30Gln	p.R30Q	ENST00000399583	NM_018059.4	30	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS43544.1	89	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCCGGGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3	.	.	ENSP00000382492	.	2/15	.	.	.	.	.	.	.	.	rs760261239	2/15	PASS	ENST00000399583	Transcript	.	.	ENSG00000157927	22226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	RADIL_HUMAN	RADIL	HGNC	F5H6X3_HUMAN,C9J7G0_HUMAN	.	UPI0000E0A787	SNV	RADIL,missense_variant,p.Arg30Gln,ENST00000457174,;RADIL,missense_variant,p.Arg30Gln,ENST00000399583,;RADIL,missense_variant,p.Arg30Gln,ENST00000536091,;RADIL,missense_variant,p.Arg30Gln,ENST00000445392,;	277	65	54	SUCCESS
LONRF1	91694	.	GRCh37	8	12589255	12589255	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	65	223	1	ENST00000398246.3:c.1678G>T	p.Glu560Ter	p.E560*	ENST00000398246	NM_152271.3	560	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5987.2	1678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCAGCAG	NONE	.	.	hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF4	.	.	ENSP00000381298	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000398246	Transcript	.	.	ENSG00000154359	26302	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LONF1_HUMAN	LONRF1	HGNC	E9PQH4_HUMAN	.	UPI0000696489	SNV	LONRF1,stop_gained,p.Glu163Ter,ENST00000524526,;LONRF1,stop_gained,p.Glu560Ter,ENST00000398246,;LONRF1,stop_gained,p.Glu203Ter,ENST00000533751,;LONRF1,upstream_gene_variant,,ENST00000525024,;MIR3926-2,upstream_gene_variant,,ENST00000578598,;LONRF1,3_prime_UTR_variant,,ENST00000526680,;LONRF1,non_coding_transcript_exon_variant,,ENST00000526610,;LONRF1,downstream_gene_variant,,ENST00000534446,;	1748	224	91	SUCCESS
TRIB1	10221	.	GRCh37	8	126445629	126445629	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	47	130	0	ENST00000311922.3:c.431C>G	p.Thr144Ser	p.T144S	ENST00000311922	NM_025195.2	144	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS6357.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTACTGGCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF10,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000312150	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000311922	Transcript	.	.	ENSG00000173334	16891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	tolerated(0.67)	.	TRIB1_HUMAN	TRIB1	HGNC	E5RFH4_HUMAN,B4DMM6_HUMAN	.	UPI00000717B2	SNV	TRIB1,missense_variant,p.Thr144Ser,ENST00000311922,;TRIB1,5_prime_UTR_variant,,ENST00000520847,;TRIB1,upstream_gene_variant,,ENST00000519576,;TRIB1,non_coding_transcript_exon_variant,,ENST00000521778,;	1013	130	252	SUCCESS
COL22A1	169044	.	GRCh37	8	139895407	139895407	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	76	70	0	ENST00000303045.6:c.9C>A	p.Gly3=	p.G3=	ENST00000303045	NM_152888.1	3	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6376.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGCCGGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257	.	.	ENSP00000303153	.	2/65	.	.	.	.	.	.	.	.	.	2/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,synonymous_variant,p.%3D,ENST00000303045,;COL22A1,synonymous_variant,p.%3D,ENST00000435777,;COL22A1,intron_variant,,ENST00000484387,;	456	70	144	SUCCESS
ZNF251	90987	.	GRCh37	8	145947963	145947963	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	37	63	1	ENST00000292562.7:c.1082G>T	p.Ser361Ile	p.S361I	ENST00000292562	NM_138367.1	361	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS47944.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCTTCGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF202,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000292562	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000292562	Transcript	.	.	ENSG00000198169	13045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.195)	.	tolerated(0.09)	.	ZN251_HUMAN	ZNF251	HGNC	.	.	UPI0000160D9A	SNV	ZNF251,missense_variant,p.Ser361Ile,ENST00000292562,;ZNF251,intron_variant,,ENST00000524394,;	1358	64	122	SUCCESS
ELP3	55140	.	GRCh37	8	27954806	27954806	+	synonymous_variant	Silent	SNP	C	C	T	rs146779290	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	98	0	ENST00000256398.8:c.90C>T	p.His30=	p.H30=	ENST00000256398	NM_018091.5	30	caC/caT	0	T:0.0002	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS6065.1	90	MUTECT|MUSE	.	GCCCACGAGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11135,TIGRFAM_domain:TIGR01211,PIRSF_domain:PIRSF005669	T:0.0089	T:0.0002	ENSP00000256398	T:0	2/15	.	.	.	.	.	.	.	.	rs146779290,COSM3982502	2/15	common_in_exac	ENST00000256398	Transcript	.	T:0.0018	ENSG00000134014	20696	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	T:0	.	0,1	ELP3_HUMAN	ELP3	HGNC	E5RIZ7_HUMAN,E5RIC0_HUMAN,E5RHY2_HUMAN,E5RHR2_HUMAN,B4DKA4_HUMAN,B4DIG1_HUMAN	.	UPI000006F0B5	SNV	ELP3,synonymous_variant,p.%3D,ENST00000521015,;ELP3,synonymous_variant,p.%3D,ENST00000520270,;ELP3,synonymous_variant,p.%3D,ENST00000521570,;ELP3,synonymous_variant,p.%3D,ENST00000521099,;ELP3,synonymous_variant,p.%3D,ENST00000520288,;ELP3,synonymous_variant,p.%3D,ENST00000256398,;ELP3,5_prime_UTR_variant,,ENST00000380353,;ELP3,5_prime_UTR_variant,,ENST00000542181,;ELP3,intron_variant,,ENST00000537665,;ELP3,intron_variant,,ENST00000524103,;ELP3,non_coding_transcript_exon_variant,,ENST00000523760,;ELP3,upstream_gene_variant,,ENST00000522063,;ELP3,synonymous_variant,p.%3D,ENST00000523687,;ELP3,synonymous_variant,p.%3D,ENST00000518112,;ELP3,non_coding_transcript_exon_variant,,ENST00000521938,;ELP3,intron_variant,,ENST00000519261,;	467	98	63	SUCCESS
PTPN3	5774	.	GRCh37	9	112170621	112170621	+	synonymous_variant	Silent	SNP	T	T	G	rs372689393	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	3	80	0	ENST00000374541.2:c.1615A>C	p.Arg539=	p.R539=	ENST00000374541	NM_001145368.1	539	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS6776.1	1615	MUTECT|MUSE	.	TATCCTTGATA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF000927,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000363667	.	17/26	.	.	.	.	.	.	.	.	rs372689393	17/26	PASS	ENST00000374541	Transcript	.	.	ENSG00000070159	9655	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTN3_HUMAN	PTPN3	HGNC	B7Z8K9_HUMAN	.	UPI000013D2D2	SNV	PTPN3,synonymous_variant,p.%3D,ENST00000446349,;PTPN3,synonymous_variant,p.%3D,ENST00000412145,;PTPN3,synonymous_variant,p.%3D,ENST00000394827,;PTPN3,synonymous_variant,p.%3D,ENST00000262539,;PTPN3,synonymous_variant,p.%3D,ENST00000374541,;	1720	80	66	SUCCESS
GPR144	0	.	GRCh37	9	127217400	127217406	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CCGTGAA	CCGTGAA	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	CCGTGAA	CCGTGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	43	0	ENST00000334810.1:c.1443_1449del	p.Arg482Ter	p.R482*	ENST00000334810	NM_001161808.1	481	ctCCGTGAA/ct	0	.	.	.	.	.	-	LRE/X	protein_coding	YES	.	1443-1449	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCCTCCGTGAAGTGAG	NONE	.	.	hmmpanther:PTHR12011:SF58,hmmpanther:PTHR12011	.	.	ENSP00000335156	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	deletion	GPR144,frameshift_variant,p.Arg482Ter,ENST00000334810,;	1443-1449	43	36	SUCCESS
FREM1	158326	.	GRCh37	9	14869010	14869010	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	16	0	ENST00000380880.3:c.-35C>T		p.*12*	ENST00000380880				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47952.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCGGCGAAATC	NONE	.	.	.	.	.	ENSP00000412940	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,5_prime_UTR_variant,,ENST00000380881,;FREM1,5_prime_UTR_variant,,ENST00000380880,;FREM1,5_prime_UTR_variant,,ENST00000422223,;FREM1,5_prime_UTR_variant,,ENST00000380875,;	782	16	13	SUCCESS
IGFBPL1	347252	.	GRCh37	9	38411534	38411534	+	synonymous_variant	Silent	SNP	G	G	T	rs375493692	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	72	0	ENST00000377694.1:c.700C>A	p.Arg234=	p.R234=	ENST00000377694	NM_001007563.2	234	Cga/Aga	0	A:0.0005	.	.	.	.	T	R	protein_coding	YES	CCDS35017.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGCAGGG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,PIRSF_domain:PIRSF018239,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR14186,hmmpanther:PTHR14186:SF16,PROSITE_profiles:PS50835	.	A:0	ENSP00000366923	.	4/5	.	.	.	.	.	.	.	.	rs375493692	4/5	PASS	ENST00000377694	Transcript	.	.	ENSG00000137142	20081	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IBPL1_HUMAN	IGFBPL1	HGNC	.	.	UPI000006F856	SNV	IGFBPL1,synonymous_variant,p.%3D,ENST00000377694,;	723	72	66	SUCCESS
NTRK2	4915	.	GRCh37	9	87635234	87635234	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	143	0	ENST00000277120.3:c.2286T>A	p.Ile762=	p.I762=	ENST00000277120		762	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS6671.1	2286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATTTTCAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000365387	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,synonymous_variant,p.%3D,ENST00000376213,;NTRK2,synonymous_variant,p.%3D,ENST00000376214,;NTRK2,synonymous_variant,p.%3D,ENST00000323115,;NTRK2,synonymous_variant,p.%3D,ENST00000277120,;	3224	143	105	SUCCESS
COL17A1	1308	.	GRCh37	10	105794497	105794497	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	204	123	313	1	ENST00000353479.5:c.3648T>A	p.Pro1216=	p.P1216=	ENST00000353479	NM_000494.3	1216	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7554.1	3648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGAGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023	.	.	ENSP00000340937	.	51/56	.	.	.	.	.	.	.	.	.	51/56	PASS	ENST00000353479	Transcript	1	.	ENSG00000065618	2194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COHA1_HUMAN	COL17A1	HGNC	.	.	UPI000006DB58	SNV	COL17A1,synonymous_variant,p.%3D,ENST00000353479,;COL17A1,synonymous_variant,p.%3D,ENST00000369733,;COL17A1,upstream_gene_variant,,ENST00000433822,;	3939	314	328	SUCCESS
TTC40	0	.	GRCh37	10	134738360	134738360	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747869739	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	46	153	0	ENST00000368586.5:c.1096G>T	p.Val366Phe	p.V366F	ENST00000368586	NM_001200049.2	366	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS58101.1	1096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGACGTCTA	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	11/58	.	.	.	.	.	.	.	.	rs747869739	11/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.27)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Val366Phe,ENST00000368582,;TTC40,missense_variant,p.Val366Phe,ENST00000368586,;TTC40,downstream_gene_variant,,ENST00000368585,;	1197	153	129	SUCCESS
SLC39A12	221074	.	GRCh37	10	18270244	18270244	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	39	106	0	ENST00000377369.2:c.928T>A	p.Cys310Ser	p.C310S	ENST00000377369	NM_001145195.1	310	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS44362.1	928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGCTTC	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Cys310Ser,ENST00000377369,;SLC39A12,missense_variant,p.Cys176Ser,ENST00000539911,;SLC39A12,missense_variant,p.Cys310Ser,ENST00000377371,;SLC39A12,missense_variant,p.Cys310Ser,ENST00000377374,;	1201	106	108	SUCCESS
MPP7	143098	.	GRCh37	10	28491163	28491163	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	44	111	0	ENST00000337532.5:c.75G>T	p.Leu25=	p.L25=	ENST00000337532	NM_173496.3	25	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7158.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCAGCTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51022,hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,Pfam_domain:PF02828,SMART_domains:SM00569	.	.	ENSP00000337907	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000337532	Transcript	.	.	ENSG00000150054	26542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP7_HUMAN	MPP7	HGNC	.	.	UPI00000558E1	SNV	MPP7,synonymous_variant,p.%3D,ENST00000337532,;MPP7,synonymous_variant,p.%3D,ENST00000441595,;MPP7,synonymous_variant,p.%3D,ENST00000375719,;MPP7,synonymous_variant,p.%3D,ENST00000375732,;MPP7,synonymous_variant,p.%3D,ENST00000540098,;MPP7,intron_variant,,ENST00000445954,;MPP7,non_coding_transcript_exon_variant,,ENST00000474731,;MPP7,non_coding_transcript_exon_variant,,ENST00000481244,;MPP7,synonymous_variant,p.%3D,ENST00000496637,;	352	111	130	SUCCESS
CSTF2T	23283	.	GRCh37	10	53457589	53457589	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	34	98	0	ENST00000331173.4:c.1721A>T	p.Gln574Leu	p.Q574L	ENST00000331173	NM_015235.2	574	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS7245.1	1721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGATCC	NONE	.	.	hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF55,Pfam_domain:PF14304	.	.	ENSP00000332444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331173	Transcript	.	.	ENSG00000177613	17086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	CSTFT_HUMAN	CSTF2T	HGNC	.	.	UPI0000073CA9	SNV	CSTF2T,missense_variant,p.Gln574Leu,ENST00000331173,;PRKG1,intron_variant,,ENST00000373976,;PRKG1,intron_variant,,ENST00000401604,;PRKG1,intron_variant,,ENST00000373985,;PRKG1,intron_variant,,ENST00000373980,;	1767	98	96	SUCCESS
GATA3	2625	.	GRCh37	10	8097825	8097825	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	84	230	0	ENST00000346208.3:c.207G>A	p.Arg69=	p.R69=	ENST00000346208		69	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS31143.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGGGCCAC	NONE	.	.	hmmpanther:PTHR10071:SF106,hmmpanther:PTHR10071,PIRSF_domain:PIRSF003027	.	.	ENSP00000368632	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000379328	Transcript	1	.	ENSG00000107485	4172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATA3_HUMAN	GATA3	HGNC	.	.	UPI000002AA34	SNV	GATA3,synonymous_variant,p.%3D,ENST00000346208,;GATA3,synonymous_variant,p.%3D,ENST00000379328,;RP11-379F12.3,upstream_gene_variant,,ENST00000458727,;GATA3-AS1,upstream_gene_variant,,ENST00000420815,;GATA3-AS1,upstream_gene_variant,,ENST00000438755,;RP11-379F12.4,downstream_gene_variant,,ENST00000418270,;GATA3-AS1,upstream_gene_variant,,ENST00000355358,;RP11-379F12.3,upstream_gene_variant,,ENST00000417359,;GATA3,upstream_gene_variant,,ENST00000461472,;GATA3,downstream_gene_variant,,ENST00000481743,;	775	230	209	SUCCESS
MMRN2	79812	.	GRCh37	10	88705230	88705230	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	64	0	ENST00000372027.5:c.297C>T	p.Tyr99=	p.Y99=	ENST00000372027	NM_024756.2	99	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS7379.1	297	MUTECT|MUSE	.	ATGCGGTACCT	NONE	.	.	PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF6,Pfam_domain:PF07546	.	.	ENSP00000361097	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000372027	Transcript	.	.	ENSG00000173269	19888	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMRN2_HUMAN	MMRN2	HGNC	R4GMY6_HUMAN	.	UPI000013F046	SNV	MMRN2,synonymous_variant,p.%3D,ENST00000372027,;MMRN2,synonymous_variant,p.%3D,ENST00000474994,;MMRN2,synonymous_variant,p.%3D,ENST00000610081,;MMRN2,5_prime_UTR_variant,,ENST00000609457,;MMRN2,upstream_gene_variant,,ENST00000488950,;MMRN2,3_prime_UTR_variant,,ENST00000608090,;MMRN2,downstream_gene_variant,,ENST00000608753,;	619	64	49	SUCCESS
ESAM	90952	.	GRCh37	11	124632101	124632101	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	97	0	ENST00000278927.5:c.-51C>A		p.*17*	ENST00000278927	NM_138961.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8453.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGGACCTG	NONE	.	.	.	.	.	ENSP00000278927	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000278927	Transcript	.	.	ENSG00000149564	17474	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESAM_HUMAN	ESAM	HGNC	.	.	UPI000003721A	SNV	ESAM,5_prime_UTR_variant,,ENST00000435477,;ESAM,5_prime_UTR_variant,,ENST00000444566,;ESAM,5_prime_UTR_variant,,ENST00000442070,;ESAM,5_prime_UTR_variant,,ENST00000278927,;MSANTD2,downstream_gene_variant,,ENST00000526629,;MSANTD2,downstream_gene_variant,,ENST00000374979,;MSANTD2,downstream_gene_variant,,ENST00000239614,;RP11-677M14.3,intron_variant,,ENST00000504932,;RP11-677M14.3,upstream_gene_variant,,ENST00000532579,;ESAM,5_prime_UTR_variant,,ENST00000417453,;ESAM,upstream_gene_variant,,ENST00000485116,;ESAM,upstream_gene_variant,,ENST00000464067,;	80	97	105	SUCCESS
FLI1	2313	.	GRCh37	11	128680398	128680398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	73	0	ENST00000527786.2:c.874T>A	p.Ser292Thr	p.S292T	ENST00000527786	NM_001271010.1	292	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS44768.1	874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCTCCGAC	NONE	.	.	Prints_domain:PR00454,Superfamily_domains:SSF46785,SMART_domains:SM00413,Gene3D:1.10.10.10,Pfam_domain:PF00178,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF180,PROSITE_profiles:PS50061	.	.	ENSP00000433488	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000527786	Transcript	.	.	ENSG00000151702	3749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.02)	.	.	FLI1	HGNC	.	.	UPI000012A972	SNV	FLI1,missense_variant,p.Ser226Thr,ENST00000281428,;FLI1,missense_variant,p.Ser99Thr,ENST00000525560,;FLI1,missense_variant,p.Ser259Thr,ENST00000534087,;FLI1,missense_variant,p.Ser259Thr,ENST00000344954,;FLI1,missense_variant,p.Ser292Thr,ENST00000527786,;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,3_prime_UTR_variant,,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000528790,;	1363	73	78	SUCCESS
CRY2	1408	.	GRCh37	11	45889179	45889179	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs778118557	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	63	1	ENST00000443527.2:c.821A>T	p.Tyr274Phe	p.Y274F	ENST00000443527	NM_021117.3	274	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS7915.2	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTATGAGA	NONE	byFrequency	.	hmmpanther:PTHR11455,hmmpanther:PTHR11455:SF15,Gene3D:1.25.40.80,Pfam_domain:PF03441,Superfamily_domains:SSF48173	.	.	ENSP00000406751	.	6/12	.	.	.	.	.	.	.	.	rs778118557	6/12	PASS	ENST00000443527	Transcript	.	.	ENSG00000121671	2385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(1)	.	.	CRY2	HGNC	B4DZD6_HUMAN,B4DIJ2_HUMAN,A2I2P1_HUMAN	.	UPI000174F724	SNV	CRY2,missense_variant,p.Tyr274Phe,ENST00000443527,;CRY2,missense_variant,p.Tyr192Phe,ENST00000417225,;CRY2,non_coding_transcript_exon_variant,,ENST00000525110,;CRY2,non_coding_transcript_exon_variant,,ENST00000495237,;CRY2,non_coding_transcript_exon_variant,,ENST00000496667,;CRY2,upstream_gene_variant,,ENST00000488962,;	843	64	65	SUCCESS
OR4A15	81328	.	GRCh37	11	55135453	55135453	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	110	0	ENST00000314706.3:c.94A>T	p.Lys32Ter	p.K32*	ENST00000314706	NM_001005275.1	32	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31500.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGAAAAAT	CODON|p.M31I|c.93G>A|5	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,stop_gained,p.Lys32Ter,ENST00000314706,;	94	110	101	SUCCESS
OR5M10	390167	.	GRCh37	11	56344393	56344393	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	91	219	2	ENST00000526812.2:c.805G>T	p.Glu269Ter	p.E269*	ENST00000526812	NM_001004741.1	269	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS53630.1	805	RADIA|SOMATICSNIPER|VARSCANS	.	CTCCTCTACAG	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,PROSITE_profiles:PS50262	.	.	ENSP00000436004	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526812	Transcript	.	.	ENSG00000254834	15290	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR5MA_HUMAN	OR5M10	HGNC	.	.	UPI0000041BEE	SNV	OR5M10,stop_gained,p.Glu269Ter,ENST00000526812,;	871	221	255	SUCCESS
SYT7	9066	.	GRCh37	11	61295635	61295635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	48	0	ENST00000263846.4:c.374A>G	p.Asp125Gly	p.D125G	ENST00000263846	NM_004200.3	125	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS58139.1	599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATCCTCC	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF97	.	.	ENSP00000444201	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000540677	Transcript	.	.	ENSG00000011347	11514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0.04)	.	SYT7_HUMAN	SYT7	HGNC	.	.	UPI0001639ECE	SNV	SYT7,missense_variant,p.Asp244Gly,ENST00000535826,;SYT7,missense_variant,p.Asp169Gly,ENST00000542836,;SYT7,missense_variant,p.Asp125Gly,ENST00000263846,;SYT7,missense_variant,p.Asp408Gly,ENST00000539008,;SYT7,missense_variant,p.Asp200Gly,ENST00000540677,;SYT7,missense_variant,p.Asp125Gly,ENST00000545053,;SYT7,missense_variant,p.Asp333Gly,ENST00000542670,;SYT7,non_coding_transcript_exon_variant,,ENST00000540831,;SYT7,3_prime_UTR_variant,,ENST00000539246,;SYT7,3_prime_UTR_variant,,ENST00000539468,;	605	48	32	SUCCESS
CNGA4	1262	.	GRCh37	11	6261883	6261883	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	123	0	ENST00000379936.2:c.859A>T	p.Lys287Ter	p.K287*	ENST00000379936	NM_001037329.3	287	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31408.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGAAGAAG	NONE	.	.	hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217,Gene3D:3bpzA01,Superfamily_domains:SSF51206	.	.	ENSP00000369268	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000379936	Transcript	.	.	ENSG00000132259	2152	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,stop_gained,p.Lys287Ter,ENST00000379936,;CNGA4,stop_gained,p.Lys56Ter,ENST00000533426,;	974	123	132	SUCCESS
SLC22A8	9376	.	GRCh37	11	62763192	62763192	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	38	80	0	ENST00000336232.2:c.985T>A	p.Cys329Ser	p.C329S	ENST00000336232	NM_001184736.1	329	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS8042.1	985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACAGAAGG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	.	.	ENSP00000337335	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,missense_variant,p.Cys206Ser,ENST00000535878,;SLC22A8,missense_variant,p.Cys329Ser,ENST00000336232,;SLC22A8,missense_variant,p.Cys329Ser,ENST00000430500,;SLC22A8,missense_variant,p.Cys329Ser,ENST00000311438,;SLC22A8,missense_variant,p.Cys238Ser,ENST00000545207,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,downstream_gene_variant,,ENST00000542904,;SLC22A8,upstream_gene_variant,,ENST00000451262,;	1121	80	70	SUCCESS
INTS4	92105	.	GRCh37	11	77632432	77632432	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	200	110	311	0	ENST00000534064.1:c.1718A>T	p.Tyr573Phe	p.Y573F	ENST00000534064	NM_033547.3	573	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS31644.1	1718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATAGTGC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0	.	.	ENSP00000434466	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000534064	Transcript	.	.	ENSG00000149262	25048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.591)	.	deleterious(0.02)	.	INT4_HUMAN	INTS4	HGNC	.	.	UPI00001FB00A	SNV	INTS4,missense_variant,p.Tyr573Phe,ENST00000534064,;INTS4,downstream_gene_variant,,ENST00000529807,;AAMDC,downstream_gene_variant,,ENST00000532481,;INTS4,non_coding_transcript_exon_variant,,ENST00000525268,;INTS4,downstream_gene_variant,,ENST00000525931,;INTS4,3_prime_UTR_variant,,ENST00000433818,;INTS4,non_coding_transcript_exon_variant,,ENST00000533180,;INTS4,non_coding_transcript_exon_variant,,ENST00000531059,;	1753	311	310	SUCCESS
CLEC1A	51267	.	GRCh37	12	10224016	10224016	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	80	0	ENST00000315330.4:c.759G>A	p.Lys253=	p.K253=	ENST00000315330	NM_016511.2	253	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS8612.1	759	MUTECT|MUSE|VARSCANS	.	CAACGCTTCAA	BUFFER|p.R254H|c.761G>A|3	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF154,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000326407	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315330	Transcript	.	.	ENSG00000150048	24355	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLC1A_HUMAN	CLEC1A	HGNC	F8WCT4_HUMAN	.	UPI00000746EB	SNV	CLEC1A,synonymous_variant,p.%3D,ENST00000315330,;CLEC1A,synonymous_variant,p.%3D,ENST00000420265,;CLEC1A,synonymous_variant,p.%3D,ENST00000457018,;	822	80	76	SUCCESS
TCTN2	79867	.	GRCh37	12	124192255	124192255	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	69	0	ENST00000303372.5:c.2089A>T	p.Ser697Cys	p.S697C	ENST00000303372	NM_024809.4	697	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9253.1	2089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATAGTTAG	NONE	.	.	.	.	.	ENSP00000304941	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000303372	Transcript	.	.	ENSG00000168778	25774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.533)	.	deleterious(0)	.	TECT2_HUMAN	TCTN2	HGNC	.	.	UPI0000038A56	SNV	TCTN2,missense_variant,p.Ser697Cys,ENST00000303372,;TCTN2,missense_variant,p.Ser696Cys,ENST00000426174,;ATP6V0A2,upstream_gene_variant,,ENST00000330342,;RP11-338K17.8,non_coding_transcript_exon_variant,,ENST00000538837,;ATP6V0A2,upstream_gene_variant,,ENST00000540368,;TCTN2,downstream_gene_variant,,ENST00000543998,;	2217	69	77	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42860019	42860019	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	113	0	ENST00000345127.3:c.752G>C	p.Cys251Ser	p.C251S	ENST00000345127	NM_153026.2	251	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS8742.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCACAGTAC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000401060	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,missense_variant,p.Cys251Ser,ENST00000345127,;PRICKLE1,missense_variant,p.Cys251Ser,ENST00000455697,;PRICKLE1,missense_variant,p.Cys251Ser,ENST00000445766,;PRICKLE1,missense_variant,p.Cys251Ser,ENST00000552240,;PRICKLE1,missense_variant,p.Cys251Ser,ENST00000548696,;PRICKLE1,downstream_gene_variant,,ENST00000547113,;PRICKLE1,downstream_gene_variant,,ENST00000551050,;PRICKLE1,downstream_gene_variant,,ENST00000552108,;RP11-328C8.4,downstream_gene_variant,,ENST00000547824,;	1038	113	120	SUCCESS
COL2A1	1280	.	GRCh37	12	48393717	48393717	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	33	143	0	ENST00000380518.3:c.277C>T	p.Leu93Phe	p.L93F	ENST00000380518	NM_033150.2	93	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS41778.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAGGTCAG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58	.	.	ENSP00000369889	.	2/54	.	.	.	.	.	.	.	.	.	2/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,missense_variant,p.Leu93Phe,ENST00000380518,;COL2A1,intron_variant,,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000474996,;COL2A1,upstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000465743,;COL2A1,non_coding_transcript_exon_variant,,ENST00000490609,;	442	143	108	SUCCESS
SMARCD1	6602	.	GRCh37	12	50492775	50492775	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	61	0	ENST00000394963.4:c.1540A>G	p.Asn514Asp	p.N514D	ENST00000394963	NM_003076.4	514	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS8797.2	1540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGAATACA	NONE	.	.	hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF1	.	.	ENSP00000378414	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000394963	Transcript	.	.	ENSG00000066117	11106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	tolerated(0.17)	.	SMRD1_HUMAN	SMARCD1	HGNC	F8VW95_HUMAN	.	UPI00001A92EC	SNV	SMARCD1,missense_variant,p.Asn514Asp,ENST00000394963,;SMARCD1,missense_variant,p.Asn312Asp,ENST00000548573,;SMARCD1,missense_variant,p.Asn473Asp,ENST00000381513,;GPD1,upstream_gene_variant,,ENST00000301149,;SMARCD1,upstream_gene_variant,,ENST00000549526,;SMARCD1,missense_variant,p.Asn114Asp,ENST00000549274,;SMARCD1,non_coding_transcript_exon_variant,,ENST00000551352,;SMARCD1,non_coding_transcript_exon_variant,,ENST00000550280,;GPD1,upstream_gene_variant,,ENST00000547964,;	1938	61	54	SUCCESS
NCAPD2	9918	.	GRCh37	12	6640135	6640135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	94	0	ENST00000315579.5:c.4013T>C	p.Val1338Ala	p.V1338A	ENST00000315579	NM_014865.3	1338	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS8548.1	4013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTCACAC	NONE	.	.	hmmpanther:PTHR14222,hmmpanther:PTHR14222:SF2,PIRSF_domain:PIRSF017127	.	.	ENSP00000325017	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000315579	Transcript	.	.	ENSG00000010292	24305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.11)	.	CND1_HUMAN	NCAPD2	HGNC	F5GZK7_HUMAN	.	UPI000013C8CA	SNV	NCAPD2,missense_variant,p.Val1293Ala,ENST00000545962,;NCAPD2,missense_variant,p.Val1338Ala,ENST00000315579,;GAPDH,upstream_gene_variant,,ENST00000229239,;GAPDH,upstream_gene_variant,,ENST00000396856,;GAPDH,upstream_gene_variant,,ENST00000396859,;GAPDH,upstream_gene_variant,,ENST00000396858,;GAPDH,upstream_gene_variant,,ENST00000396861,;NCAPD2,downstream_gene_variant,,ENST00000382457,;RP5-940J5.3,downstream_gene_variant,,ENST00000537921,;NCAPD2,downstream_gene_variant,,ENST00000542492,;NCAPD2,downstream_gene_variant,,ENST00000535804,;NCAPD2,downstream_gene_variant,,ENST00000539885,;NCAPD2,3_prime_UTR_variant,,ENST00000539084,;GAPDH,upstream_gene_variant,,ENST00000496049,;GAPDH,upstream_gene_variant,,ENST00000492719,;GAPDH,upstream_gene_variant,,ENST00000466588,;GAPDH,upstream_gene_variant,,ENST00000474249,;GAPDH,upstream_gene_variant,,ENST00000466525,;	4812	94	99	SUCCESS
IRAK3	11213	.	GRCh37	12	66638917	66638917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	66	106	0	ENST00000261233.4:c.1189G>A	p.Asp397Asn	p.D397N	ENST00000261233	NM_007199.2	397	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8975.1	1189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGATTCA	NONE	.	.	Superfamily_domains:SSF56112,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7,PROSITE_profiles:PS50011	.	.	ENSP00000261233	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000261233	Transcript	.	.	ENSG00000090376	17020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	tolerated(0.06)	.	IRAK3_HUMAN	IRAK3	HGNC	.	.	UPI000013D14A	SNV	IRAK3,missense_variant,p.Asp397Asn,ENST00000261233,;IRAK3,missense_variant,p.Asp336Asn,ENST00000457197,;	1610	106	128	SUCCESS
CAND1	55832	.	GRCh37	12	67699492	67699492	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	66	97	0	ENST00000545606.1:c.2044A>T	p.Ser682Cys	p.S682C	ENST00000545606	NM_018448.3	682	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8977.1	2044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATAGTGAC	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	deleterious(0.01)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Ser682Cys,ENST00000545606,;CAND1,missense_variant,p.Ser222Cys,ENST00000544619,;CAND1,intron_variant,,ENST00000540319,;	2481	97	120	SUCCESS
LINC00283	0	.	GRCh37	13	103396437	103396437	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs1223063342	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	52	0	ENST00000430111.1:n.810C>A		p.*270*	ENST00000430111				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGCCTCTC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000430111	Transcript	.	.	ENSG00000231633	38809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00283	HGNC	.	.	.	SNV	LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,;	810	52	84	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111926288	111926288	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	76	0	ENST00000375741.2:c.1264A>T	p.Arg422Ter	p.R422*	ENST00000375741	NM_145735.2	422	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS45068.1	1264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGAGACAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,PROSITE_patterns:PS00741,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826,PROSITE_profiles:PS50010	.	.	ENSP00000364893	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,stop_gained,p.Arg244Ter,ENST00000466143,;ARHGEF7,stop_gained,p.Arg244Ter,ENST00000375736,;ARHGEF7,stop_gained,p.Arg319Ter,ENST00000375737,;ARHGEF7,stop_gained,p.Arg166Ter,ENST00000478679,;ARHGEF7,stop_gained,p.Arg244Ter,ENST00000218789,;ARHGEF7,stop_gained,p.Arg372Ter,ENST00000375739,;ARHGEF7,stop_gained,p.Arg244Ter,ENST00000375723,;ARHGEF7,stop_gained,p.Arg244Ter,ENST00000426073,;ARHGEF7,stop_gained,p.Arg422Ter,ENST00000375741,;ARHGEF7,stop_gained,p.Arg401Ter,ENST00000317133,;ARHGEF7,stop_gained,p.Arg329Ter,ENST00000370623,;ARHGEF7,intron_variant,,ENST00000544132,;ARHGEF7,non_coding_transcript_exon_variant,,ENST00000483189,;ARHGEF7,intron_variant,,ENST00000469877,;	1514	76	71	SUCCESS
SUCLA2	8803	.	GRCh37	13	48517535	48517540	+	inframe_deletion	In_Frame_Del	DEL	CATGTG	CATGTG	-	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	CATGTG	CATGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	118	33	188	0	ENST00000378654.3:c.1358_1363del	p.Ala453_His454del	p.A453_H454del	ENST00000378654	NM_003850.2	453	gCACATGtg/gtg	0	.	.	.	.	.	-	AHV/V	protein_coding	YES	CCDS9406.1	1358-1363	VARSCANI*|PINDEL	.	CATCCACATGTGCTTGC	NONE	.	.	hmmpanther:PTHR11815,hmmpanther:PTHR11815:SF3	.	.	ENSP00000367923	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000378654	Transcript	.	.	ENSG00000136143	11448	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUCB1_HUMAN	SUCLA2	HGNC	E5KS60_HUMAN,Q9Y4T0_HUMAN,F5H5G8_HUMAN,F5GXC8_HUMAN	.	UPI000013CFEB	deletion	SUCLA2,inframe_deletion,p.Ala395_His396del,ENST00000543413,;SUCLA2,inframe_deletion,p.Ala319_His320del,ENST00000544100,;SUCLA2,inframe_deletion,p.Ala395_His396del,ENST00000534875,;SUCLA2,inframe_deletion,p.Ala453_His454del,ENST00000378654,;SUCLA2,non_coding_transcript_exon_variant,,ENST00000493152,;SUCLA2,non_coding_transcript_exon_variant,,ENST00000481279,;SUCLA2,non_coding_transcript_exon_variant,,ENST00000467222,;SUCLA2,upstream_gene_variant,,ENST00000484941,;	1415-1420	188	151	SUCCESS
RP11-248G5.8	0	.	GRCh37	13	52863987	52863987	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	20	0	ENST00000451298.1:n.183T>A		p.*61*	ENST00000451298				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCATGAGA	NONE	.	.	.	.	.	.	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000451298	Transcript	.	.	ENSG00000217576	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-248G5.8	Clone_based_vega_gene	.	.	.	SNV	TPTE2P2,non_coding_transcript_exon_variant,,ENST00000605924,;RP11-248G5.8,non_coding_transcript_exon_variant,,ENST00000451298,;TPTE2P2,non_coding_transcript_exon_variant,,ENST00000403471,;	183	20	17	SUCCESS
MYH7	4625	.	GRCh37	14	23900980	23900980	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	57	0	ENST00000355349.3:c.629G>A	p.Ser210Asn	p.S210N	ENST00000355349	NM_000257.2	210	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS9601.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCTCTGG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	7/40	.	.	.	.	.	.	.	.	.	7/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.31)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Ser210Asn,ENST00000355349,;	792	57	66	SUCCESS
BNIP3P1	319138	.	GRCh37	14	28734290	28734290	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	28	0	ENST00000550043.1:n.695G>T		p.*232*	ENST00000550043				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGGATTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000550043	Transcript	.	.	ENSG00000197358	19922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	BNIP3P1	HGNC	.	.	.	SNV	BNIP3P1,non_coding_transcript_exon_variant,,ENST00000550043,;BNIP3P1,non_coding_transcript_exon_variant,,ENST00000547295,;BNIP3P1,non_coding_transcript_exon_variant,,ENST00000355069,;	695	28	52	SUCCESS
INSM2	84684	.	GRCh37	14	36003923	36003923	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	30	0	ENST00000307169.3:c.465A>T	p.Ala155=	p.A155=	ENST00000307169	NM_032594.3	155	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9657.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15065:SF3,hmmpanther:PTHR15065	.	.	ENSP00000306523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307169	Transcript	.	.	ENSG00000168348	17539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM2_HUMAN	INSM2	HGNC	.	.	UPI000013EBD6	SNV	INSM2,synonymous_variant,p.%3D,ENST00000307169,;RALGAPA1,downstream_gene_variant,,ENST00000389698,;RALGAPA1,downstream_gene_variant,,ENST00000382366,;RALGAPA1,downstream_gene_variant,,ENST00000554573,;RALGAPA1,downstream_gene_variant,,ENST00000554259,;RALGAPA1,downstream_gene_variant,,ENST00000258840,;RALGAPA1,downstream_gene_variant,,ENST00000307138,;RALGAPA1,downstream_gene_variant,,ENST00000556106,;	676	30	28	SUCCESS
PELI2	57161	.	GRCh37	14	56757106	56757106	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	75	0	ENST00000267460.4:c.628G>A	p.Glu210Lys	p.E210K	ENST00000267460	NM_021255.2	210	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9726.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGAGATC	NONE	.	.	hmmpanther:PTHR12098:SF5,hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886	.	.	ENSP00000267460	.	5/6	.	.	.	.	.	.	.	.	COSM956404	5/6	PASS	ENST00000267460	Transcript	.	.	ENSG00000139946	8828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.921)	.	deleterious(0)	1	PELI2_HUMAN	PELI2	HGNC	Q659D8_HUMAN,H0YNF4_HUMAN,H0YK56_HUMAN	.	UPI0000062262	SNV	PELI2,missense_variant,p.Glu210Lys,ENST00000267460,;PELI2,downstream_gene_variant,,ENST00000561019,;PELI2,downstream_gene_variant,,ENST00000559044,;	914	75	69	SUCCESS
LINC00238	0	.	GRCh37	14	66958879	66958879	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	32	96	1	ENST00000411796.2:n.710A>G		p.*237*	ENST00000411796				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAATGCAA	NONE	.	.	.	.	.	.	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000411796	Transcript	.	.	ENSG00000196553	20100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00238	HGNC	.	.	.	SNV	LINC00238,non_coding_transcript_exon_variant,,ENST00000389594,;LINC00238,non_coding_transcript_exon_variant,,ENST00000359454,;LINC00238,non_coding_transcript_exon_variant,,ENST00000411796,;LINC00238,non_coding_transcript_exon_variant,,ENST00000450299,;LINC00238,intron_variant,,ENST00000432289,;RP11-72M17.1,intron_variant,,ENST00000556361,;RP11-72M17.1,intron_variant,,ENST00000556874,;RP11-72M17.1,downstream_gene_variant,,ENST00000555377,;LINC00238,upstream_gene_variant,,ENST00000436570,;	710	98	116	SUCCESS
GPHN	10243	.	GRCh37	14	67589075	67589075	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	99	1	ENST00000315266.5:c.1630T>C	p.Leu544=	p.L544=	ENST00000315266	NM_001024218.1	544	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9777.1	1729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACTTGGGT	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF00994,TIGRFAM_domain:TIGR00177,Gene3D:3.40.980.10,SMART_domains:SM00852,Superfamily_domains:SSF53218	.	.	ENSP00000417901	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,synonymous_variant,p.%3D,ENST00000555503,;GPHN,synonymous_variant,p.%3D,ENST00000543237,;GPHN,synonymous_variant,p.%3D,ENST00000305960,;GPHN,synonymous_variant,p.%3D,ENST00000478722,;GPHN,synonymous_variant,p.%3D,ENST00000315266,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,non_coding_transcript_exon_variant,,ENST00000555527,;	2850	100	107	SUCCESS
AREL1	9870	.	GRCh37	14	75139861	75139861	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	97	0	ENST00000356357.4:c.1219A>T	p.Ile407Phe	p.I407F	ENST00000356357	NM_001039479.1	407	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS41971.1	1219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAATGCCAT	NONE	.	.	hmmpanther:PTHR11254:SF284,hmmpanther:PTHR11254	.	.	ENSP00000348714	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000356357	Transcript	.	.	ENSG00000119682	20363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	tolerated(0.7)	.	AREL1_HUMAN	AREL1	HGNC	H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN	.	UPI0000073D44	SNV	AREL1,missense_variant,p.Ile407Phe,ENST00000356357,;AREL1,missense_variant,p.Ile246Phe,ENST00000556202,;AREL1,downstream_gene_variant,,ENST00000490805,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,missense_variant,p.Ile51Phe,ENST00000481010,;AREL1,missense_variant,p.Ile407Phe,ENST00000555330,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;AREL1,non_coding_transcript_exon_variant,,ENST00000556327,;AREL1,downstream_gene_variant,,ENST00000553279,;AREL1,downstream_gene_variant,,ENST00000553411,;	1735	97	89	SUCCESS
NRXN3	9369	.	GRCh37	14	79432393	79432393	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	61	0	ENST00000554719.1:c.1302T>G	p.Arg434=	p.R434=	ENST00000554719	NM_004796.5	434	cgT/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS9870.1	1302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGTTTGGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,synonymous_variant,p.%3D,ENST00000554719,;NRXN3,synonymous_variant,p.%3D,ENST00000335750,;NRXN3,synonymous_variant,p.%3D,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	1793	61	65	SUCCESS
GPR68	8111	.	GRCh37	14	91701172	91701172	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	84	0	ENST00000531499.2:c.223C>A	p.Pro75Thr	p.P75T	ENST00000531499		75	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9894.2	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGCAGCG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF5,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000434045	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000531499	Transcript	.	.	ENSG00000119714	4519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OGR1_HUMAN	GPR68	HGNC	E9PNU7_HUMAN	.	UPI000005042A	SNV	GPR68,missense_variant,p.Pro75Thr,ENST00000535815,;GPR68,missense_variant,p.Pro75Thr,ENST00000531499,;GPR68,missense_variant,p.Pro75Thr,ENST00000529102,;GPR68,missense_variant,p.Pro85Thr,ENST00000238699,;GPR68,downstream_gene_variant,,ENST00000529300,;	563	84	82	SUCCESS
LYSMD4	145748	.	GRCh37	15	100271590	100271590	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	221	140	344	1	ENST00000409796.1:c.282+333A>T		p.*94*	ENST00000409796	NM_001284418.1	78		0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10381.1	232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGGTAT	NONE	.	.	.	.	.	ENSP00000342840	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000344791	Transcript	.	.	ENSG00000183060	26571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.666)	.	deleterious(0.02)	.	LYSM4_HUMAN	LYSMD4	HGNC	B3KWE4_HUMAN	.	UPI000021D1F8	SNV	LYSMD4,missense_variant,p.Arg78Trp,ENST00000344791,;LYSMD4,missense_variant,p.Arg73Trp,ENST00000450512,;LYSMD4,5_prime_UTR_variant,,ENST00000545021,;LYSMD4,intron_variant,,ENST00000409796,;LYSMD4,intron_variant,,ENST00000332728,;LYSMD4,intron_variant,,ENST00000484050,;LYSMD4,intron_variant,,ENST00000604213,;LYSMD4,intron_variant,,ENST00000496108,;LYSMD4,non_coding_transcript_exon_variant,,ENST00000479791,;LYSMD4,intron_variant,,ENST00000493256,;	505	345	361	SUCCESS
ARHGAP11A	9824	.	GRCh37	15	32928129	32928129	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	56	160	0	ENST00000361627.3:c.1483+13A>G		p.*495*	ENST00000361627	NM_014783.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10028.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATACTACT	NONE	.	.	.	.	.	ENSP00000355090	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361627	Transcript	.	.	ENSG00000198826	15783	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHGBA_HUMAN	ARHGAP11A	HGNC	B4DZN9_HUMAN	.	UPI0000071553	SNV	ARHGAP11A,missense_variant,p.Tyr499Cys,ENST00000567348,;ARHGAP11A,missense_variant,p.Tyr471Cys,ENST00000563864,;ARHGAP11A,intron_variant,,ENST00000361627,;ARHGAP11A,intron_variant,,ENST00000565905,;ARHGAP11A,intron_variant,,ENST00000562481,;ARHGAP11A,intron_variant,,ENST00000543522,;ARHGAP11A,intron_variant,,ENST00000564918,;	.	160	179	SUCCESS
UACA	55075	.	GRCh37	15	70959550	70959550	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	76	0	ENST00000322954.6:c.3473A>C	p.Asn1158Thr	p.N1158T	ENST00000322954	NM_018003.2	1158	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS10235.1	3473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATTCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1	.	.	ENSP00000314556	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000322954	Transcript	.	.	ENSG00000137831	15947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.22)	.	UACA_HUMAN	UACA	HGNC	.	.	UPI000006DCF3	SNV	UACA,missense_variant,p.Asn1145Thr,ENST00000379983,;UACA,missense_variant,p.Asn1049Thr,ENST00000539319,;UACA,missense_variant,p.Asn1158Thr,ENST00000322954,;UACA,missense_variant,p.Asn1143Thr,ENST00000560441,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000558308,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;	3659	76	54	SUCCESS
TICRR	90381	.	GRCh37	15	90129169	90129169	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	58	0	ENST00000268138.7:c.1407T>A	p.Ser469=	p.S469=	ENST00000268138		469	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10352.2	1407	MUTECT|MUSE	.	GCTTCTGCTGG	NONE	.	.	Pfam_domain:PF15292,hmmpanther:PTHR21556	.	.	ENSP00000268138	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000268138	Transcript	.	.	ENSG00000140534	28704	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TICRR_HUMAN	TICRR	HGNC	.	.	UPI0000D61399	SNV	TICRR,synonymous_variant,p.%3D,ENST00000560985,;TICRR,synonymous_variant,p.%3D,ENST00000268138,;RP11-429B14.1,intron_variant,,ENST00000559041,;RP11-429B14.3,upstream_gene_variant,,ENST00000560477,;	1512	58	58	SUCCESS
NGRN	51335	.	GRCh37	15	90808975	90808984	+	frameshift_variant	Frame_Shift_Del	DEL	GGGCGCGTTT	GGGCGCGTTT	-	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	GGGCGCGTTT	GGGCGCGTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	48	0	ENST00000379095.3:c.32_41del	p.Gly11AlafsTer44	p.G11Afs*44	ENST00000379095	NM_001033088.1	11	GGGCGCGTTTgc/gc	0	.	.	.	.	.	-	GRVC/X	protein_coding	YES	CCDS32329.1	31-40	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGCGGGCGCGTTTGCGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13475	.	.	ENSP00000368389	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000379095	Transcript	.	.	ENSG00000182768	18077	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NGRN_HUMAN	NGRN	HGNC	.	.	UPI00005B2F01	deletion	NGRN,frameshift_variant,p.Gly11AlafsTer44,ENST00000379095,;TTLL13,downstream_gene_variant,,ENST00000438251,;NGRN,non_coding_transcript_exon_variant,,ENST00000331497,;RP11-697E2.6,intron_variant,,ENST00000561573,;	39-48	48	58	SUCCESS
SYNM	23336	.	GRCh37	15	99669606	99669606	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	57	0	ENST00000336292.6:c.1038A>G	p.Ser346=	p.S346=	ENST00000336292	NM_145728.2	346	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	.	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCACTACT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	.	.	ENSP00000336775	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000336292	Transcript	.	.	ENSG00000182253	24466	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNEM_HUMAN	SYNM	HGNC	.	.	UPI00001B03B3	SNV	SYNM,synonymous_variant,p.%3D,ENST00000328642,;SYNM,synonymous_variant,p.%3D,ENST00000336292,;SYNM,synonymous_variant,p.%3D,ENST00000560674,;RP11-6O2.4,non_coding_transcript_exon_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,intron_variant,,ENST00000561306,;	1158	57	59	SUCCESS
ZNF646	9726	.	GRCh37	16	31090546	31090546	+	synonymous_variant	Silent	SNP	C	C	T	rs140492151	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	97	0	ENST00000394979.2:c.2901C>T	p.Tyr967=	p.Y967=	ENST00000394979		967	taC/taT	0	T:0	.	.	.	.	T	Y	protein_coding	YES	CCDS10702.1	2901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTACGATGA	NONE	byCluster	.	SMART_domains:SM00355,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182	.	T:0.0001	ENSP00000300850	.	2/3	.	.	.	.	.	.	.	.	rs140492151	2/3	PASS	ENST00000300850	Transcript	.	.	ENSG00000167395	29004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN646_HUMAN	ZNF646	HGNC	H3BSD0_HUMAN,C9J3L0_HUMAN	.	UPI00001FFF54	SNV	ZNF646,synonymous_variant,p.%3D,ENST00000394979,;ZNF646,synonymous_variant,p.%3D,ENST00000300850,;PRSS53,downstream_gene_variant,,ENST00000280606,;ZNF668,upstream_gene_variant,,ENST00000300849,;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;RP11-196G11.1,downstream_gene_variant,,ENST00000533518,;PRSS53,downstream_gene_variant,,ENST00000486499,;	3190	97	59	SUCCESS
PDIA2	64714	.	GRCh37	16	335408	335408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	57	0	ENST00000219406.6:c.892G>T	p.Gly298Trp	p.G298W	ENST00000219406	NM_006849.2	298	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS42089.1	892	MUTECT|MUSE	.	GCTTTGGGGAG	NONE	.	.	hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF75,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,Pfam_domain:PF13848,Superfamily_domains:SSF52833	.	.	ENSP00000219406	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000219406	Transcript	.	.	ENSG00000185615	14180	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.84)	.	deleterious(0)	.	PDIA2_HUMAN	PDIA2	HGNC	B3KWF3_HUMAN	.	UPI0000131481	SNV	PDIA2,missense_variant,p.Gly295Trp,ENST00000404312,;PDIA2,missense_variant,p.Gly298Trp,ENST00000219406,;AXIN1,downstream_gene_variant,,ENST00000457798,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;ARHGDIG,downstream_gene_variant,,ENST00000219409,;ARHGDIG,downstream_gene_variant,,ENST00000447871,;AXIN1,downstream_gene_variant,,ENST00000262320,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,upstream_gene_variant,,ENST00000435833,;PDIA2,downstream_gene_variant,,ENST00000456379,;AXIN1,downstream_gene_variant,,ENST00000354866,;PDIA2,non_coding_transcript_exon_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000482665,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;AXIN1,downstream_gene_variant,,ENST00000461023,;	910	57	46	SUCCESS
LIG3	3980	.	GRCh37	17	33330100	33330100	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	73	199	0	ENST00000378526.4:c.2796+292G>A		p.*932*	ENST00000378526	NM_013975.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11284.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGACTCA	NONE	.	.	.	.	.	ENSP00000367787	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378526	Transcript	.	.	ENSG00000005156	6600	.	.	MODIFIER	19/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNLI3_HUMAN	LIG3	HGNC	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN	.	UPI0000350B71	SNV	LIG3,3_prime_UTR_variant,,ENST00000262327,;LIG3,intron_variant,,ENST00000378526,;RFFL,downstream_gene_variant,,ENST00000315249,;RP5-837J1.2,upstream_gene_variant,,ENST00000578488,;RP5-837J1.2,upstream_gene_variant,,ENST00000415412,;RFFL,downstream_gene_variant,,ENST00000580569,;LIG3,non_coding_transcript_exon_variant,,ENST00000592244,;LIG3,non_coding_transcript_exon_variant,,ENST00000593099,;LIG3,downstream_gene_variant,,ENST00000586119,;LIG3,downstream_gene_variant,,ENST00000585370,;LIG3,downstream_gene_variant,,ENST00000586058,;	.	199	205	SUCCESS
TAF15	8148	.	GRCh37	17	34171663	34171663	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1410045851	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	83	0	ENST00000588240.1:c.1360G>A	p.Gly454Ser	p.G454S	ENST00000588240	NM_139215.2	454	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32623.1	1360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTGGCTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25	.	.	ENSP00000466950	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000588240	Transcript	.	.	ENSG00000172660	11547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	RBP56_HUMAN	TAF15	HGNC	Q86X94_HUMAN,K7EJB3_HUMAN	.	UPI000013317D	SNV	TAF15,missense_variant,p.Gly454Ser,ENST00000588240,;TAF15,missense_variant,p.Gly119Ser,ENST00000585577,;TAF15,missense_variant,p.Gly451Ser,ENST00000311979,;TAF15,intron_variant,,ENST00000592237,;TAF15,upstream_gene_variant,,ENST00000586593,;TAF15,downstream_gene_variant,,ENST00000586970,;TAF15,downstream_gene_variant,,ENST00000591763,;TAF15,downstream_gene_variant,,ENST00000590051,;	1475	83	65	SUCCESS
KRT10	3858	.	GRCh37	17	38975889	38975889	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	55	143	0	ENST00000269576.5:c.1253T>A	p.Leu418Ter	p.L418*	ENST00000269576	NM_000421.3	418	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS11377.1	1253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCAACTGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF137,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	.	ENSP00000269576	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000269576	Transcript	.	.	ENSG00000186395	6413	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C10_HUMAN	KRT10	HGNC	.	.	UPI000013D842	SNV	KRT10,stop_gained,p.Leu418Ter,ENST00000269576,;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000301665,;TMEM99,intron_variant,,ENST00000496847,;	1263	143	128	SUCCESS
KIF2B	84643	.	GRCh37	17	51901119	51901119	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	136	0	ENST00000268919.4:c.725A>T	p.Asn242Ile	p.N242I	ENST00000268919	NM_032559.4	242	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS32685.1	725	RADIA|MUTECT|MUSE	.	GGACAATGTGG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.794)	.	deleterious(0.01)	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,missense_variant,p.Asn242Ile,ENST00000268919,;	881	136	97	SUCCESS
EVPL	2125	.	GRCh37	17	74006245	74006245	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	68	1	ENST00000301607.3:c.3041T>A	p.Leu1014Gln	p.L1014Q	ENST00000301607	NM_001988.2	1014	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11737.1	3041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCAGATGA	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Leu1036Gln,ENST00000586740,;EVPL,missense_variant,p.Leu1014Gln,ENST00000301607,;EVPL,upstream_gene_variant,,ENST00000589231,;CDK3,downstream_gene_variant,,ENST00000448471,;CDK3,downstream_gene_variant,,ENST00000425876,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;EVPL,downstream_gene_variant,,ENST00000593037,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;	3295	69	64	SUCCESS
DNAH2	146754	.	GRCh37	17	7637534	7637534	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	52	135	0	ENST00000389173.2:c.662T>A	p.Leu221His	p.L221H	ENST00000389173	NM_020877.2	221	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS32551.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCTCTACA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	.	.	ENSP00000458355	.	6/86	.	.	.	.	.	.	.	.	.	6/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Leu221His,ENST00000082259,;DNAH2,missense_variant,p.Leu221His,ENST00000389173,;DNAH2,missense_variant,p.Leu221His,ENST00000570791,;DNAH2,missense_variant,p.Leu221His,ENST00000572933,;	2122	135	147	SUCCESS
CARD14	79092	.	GRCh37	17	78176201	78176201	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs371296759	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	61	0	ENST00000344227.2:c.2201C>G	p.Thr734Ser	p.T734S	ENST00000344227	NM_024110.4	734	aCc/aGc	0	T:0.0002	.	.	.	.	G	T/S	protein_coding	YES	CCDS11768.1	2201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCACCATCC	NONE	byCluster	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF1	.	T:0	ENSP00000458715	.	17/23	.	.	.	.	.	.	.	.	rs371296759	17/23	PASS	ENST00000573882	Transcript	.	.	ENSG00000141527	16446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.14)	.	CAR14_HUMAN	CARD14	HGNC	I3L4Q8_HUMAN,I3L1Z7_HUMAN	.	UPI000013D81B	SNV	CARD14,missense_variant,p.Thr734Ser,ENST00000570421,;CARD14,missense_variant,p.Thr734Ser,ENST00000573882,;CARD14,missense_variant,p.Thr734Ser,ENST00000344227,;CARD14,3_prime_UTR_variant,,ENST00000392434,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000573935,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000573346,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000570309,;RP11-334C17.5,intron_variant,,ENST00000576824,;RP11-334C17.5,downstream_gene_variant,,ENST00000572730,;CARD14,downstream_gene_variant,,ENST00000573754,;CARD14,downstream_gene_variant,,ENST00000574148,;SGSH,downstream_gene_variant,,ENST00000575484,;CARD14,3_prime_UTR_variant,,ENST00000575500,;CARD14,3_prime_UTR_variant,,ENST00000571450,;CARD14,downstream_gene_variant,,ENST00000575666,;	2737	61	54	SUCCESS
C17orf70	0	.	GRCh37	17	79514592	79514592	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	54	0	ENST00000327787.8:c.1516A>G	p.Ile506Val	p.I506V	ENST00000327787		506	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32765.2	1516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGGGTC	NONE	.	.	hmmpanther:PTHR14890,hmmpanther:PTHR14890:SF1,Pfam_domain:PF15146	.	.	ENSP00000333283	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000327787	Transcript	.	.	ENSG00000185504	26171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.31)	.	FP100_HUMAN	C17orf70	HGNC	J3KQD8_HUMAN,F5H095_HUMAN,F5GZS4_HUMAN	.	UPI0001C53D21	SNV	C17orf70,missense_variant,p.Ile155Val,ENST00000425898,;C17orf70,missense_variant,p.Ile355Val,ENST00000537152,;C17orf70,missense_variant,p.Ile506Val,ENST00000327787,;C17orf70,downstream_gene_variant,,ENST00000536161,;C17orf70,downstream_gene_variant,,ENST00000541246,;C17orf70,downstream_gene_variant,,ENST00000544302,;C17orf70,3_prime_UTR_variant,,ENST00000443656,;C17orf70,upstream_gene_variant,,ENST00000545865,;	1563	54	49	SUCCESS
MOCOS	55034	.	GRCh37	18	33779681	33779681	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	86	0	ENST00000261326.5:c.335A>T	p.Tyr112Phe	p.Y112F	ENST00000261326	NM_017947.2	112	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS11919.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTACACTG	NONE	.	.	Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050	.	.	ENSP00000261326	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Tyr112Phe,ENST00000261326,;	356	86	76	SUCCESS
MC4R	4160	.	GRCh37	18	58038792	58038792	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	63	125	0	ENST00000299766.3:c.791A>T	p.His264Leu	p.H264L	ENST00000299766	NM_005912.2	264	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS11976.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGTGGAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,missense_variant,p.His264Leu,ENST00000299766,;	1210	125	156	SUCCESS
ICAM1	3383	.	GRCh37	19	10395559	10395559	+	synonymous_variant	Silent	SNP	C	C	T	rs556280231	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	100	0	ENST00000264832.3:c.1281C>T	p.Pro427=	p.P427=	ENST00000264832	NM_000201.2	427	ccC/ccT	0	.	T:0.0008	.	T:0	.	T	P	protein_coding	YES	CCDS12231.1	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCGAGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF5,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	.	ENSP00000264832	T:0	6/7	.	.	.	.	.	.	.	.	rs556280231	6/7	PASS	ENST00000264832	Transcript	1	T:0.0002	ENSG00000090339	5344	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ICAM1_HUMAN	ICAM1	HGNC	B4DNT6_HUMAN	.	UPI000000D91C	SNV	ICAM1,synonymous_variant,p.%3D,ENST00000423829,;ICAM1,synonymous_variant,p.%3D,ENST00000264832,;ICAM1,downstream_gene_variant,,ENST00000588645,;ICAM4,upstream_gene_variant,,ENST00000393717,;ICAM4,upstream_gene_variant,,ENST00000380770,;ICAM4,upstream_gene_variant,,ENST00000340992,;CTD-2369P2.5,intron_variant,,ENST00000592893,;CTD-2369P2.8,downstream_gene_variant,,ENST00000589379,;ICAM1,downstream_gene_variant,,ENST00000585443,;ICAM1,downstream_gene_variant,,ENST00000592686,;	1606	100	83	SUCCESS
AP3D1	8943	.	GRCh37	19	2137727	2137727	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	37	109	1	ENST00000345016.5:c.272A>T	p.Lys91Met	p.K91M	ENST00000345016	NM_003938.6	91	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS58638.1	272	RADIA|SOMATICSNIPER|VARSCANS	.	TCACCTTGAAG	NONE	.	.	hmmpanther:PTHR22781,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371	.	.	ENSP00000347416	.	3/32	.	.	.	.	.	.	.	.	.	3/32	PASS	ENST00000355272	Transcript	.	.	ENSG00000065000	568	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP3D1_HUMAN	AP3D1	HGNC	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN	.	UPI0000202F99	SNV	AP3D1,missense_variant,p.Lys91Met,ENST00000356926,;AP3D1,missense_variant,p.Lys91Met,ENST00000350812,;AP3D1,missense_variant,p.Lys91Met,ENST00000355272,;AP3D1,missense_variant,p.Lys91Met,ENST00000345016,;AP3D1,splice_region_variant,,ENST00000591284,;	479	111	109	SUCCESS
ZNF681	148213	.	GRCh37	19	23927688	23927688	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	62	0	ENST00000395385.3:c.457G>T	p.Gly153Ter	p.G153*	ENST00000395385		153	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS12414.2	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCAATAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,stop_gained,p.Gly153Ter,ENST00000395385,;ZNF681,stop_gained,p.Gly222Ter,ENST00000402377,;ZNF681,incomplete_terminal_codon_variant,p.%3D,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	806	62	58	SUCCESS
DMKN	93099	.	GRCh37	19	35993746	35993746	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	41	130	0	ENST00000339686.3:c.1177A>T	p.Ser393Cys	p.S393C	ENST00000339686	NM_033317.4	393	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS12463.1	1177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCTGAAGT	NONE	.	.	.	.	.	ENSP00000342012	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000339686	Transcript	.	.	ENSG00000161249	25063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	DMKN_HUMAN	DMKN	HGNC	R4GMQ0_HUMAN	.	UPI00002020EB	SNV	DMKN,missense_variant,p.Ser40Cys,ENST00000602679,;DMKN,missense_variant,p.Ser104Cys,ENST00000434389,;DMKN,missense_variant,p.Ser40Cys,ENST00000492341,;DMKN,missense_variant,p.Ser106Cys,ENST00000602781,;DMKN,missense_variant,p.Ser40Cys,ENST00000472252,;DMKN,missense_variant,p.Ser382Cys,ENST00000419602,;DMKN,missense_variant,p.Ser352Cys,ENST00000429837,;DMKN,missense_variant,p.Ser118Cys,ENST00000467637,;DMKN,missense_variant,p.Ser156Cys,ENST00000443640,;DMKN,missense_variant,p.Ser106Cys,ENST00000414866,;DMKN,missense_variant,p.Ser106Cys,ENST00000402589,;DMKN,missense_variant,p.Ser89Cys,ENST00000436012,;DMKN,missense_variant,p.Ser393Cys,ENST00000339686,;DMKN,intron_variant,,ENST00000480502,;DMKN,downstream_gene_variant,,ENST00000424570,;DMKN,downstream_gene_variant,,ENST00000418261,;DMKN,downstream_gene_variant,,ENST00000392206,;DMKN,downstream_gene_variant,,ENST00000447113,;DMKN,downstream_gene_variant,,ENST00000458071,;DMKN,downstream_gene_variant,,ENST00000474928,;DMKN,downstream_gene_variant,,ENST00000450261,;DMKN,downstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000601650,;DMKN,downstream_gene_variant,,ENST00000440396,;DMKN,upstream_gene_variant,,ENST00000593342,;DMKN,downstream_gene_variant,,ENST00000451297,;DMKN,downstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000408915,;DMKN,non_coding_transcript_exon_variant,,ENST00000462126,;DMKN,downstream_gene_variant,,ENST00000474992,;DMKN,downstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000466587,;DMKN,missense_variant,p.Ser69Cys,ENST00000597212,;DMKN,missense_variant,p.Ser13Cys,ENST00000460327,;DMKN,3_prime_UTR_variant,,ENST00000498211,;DMKN,3_prime_UTR_variant,,ENST00000460051,;DMKN,3_prime_UTR_variant,,ENST00000464709,;DMKN,3_prime_UTR_variant,,ENST00000463292,;DMKN,3_prime_UTR_variant,,ENST00000462721,;DMKN,3_prime_UTR_variant,,ENST00000464894,;DMKN,3_prime_UTR_variant,,ENST00000493979,;DMKN,3_prime_UTR_variant,,ENST00000488542,;DMKN,3_prime_UTR_variant,,ENST00000490622,;DMKN,3_prime_UTR_variant,,ENST00000498593,;DMKN,3_prime_UTR_variant,,ENST00000467532,;DMKN,3_prime_UTR_variant,,ENST00000483855,;DMKN,non_coding_transcript_exon_variant,,ENST00000486450,;DMKN,non_coding_transcript_exon_variant,,ENST00000498269,;DMKN,non_coding_transcript_exon_variant,,ENST00000465927,;DMKN,non_coding_transcript_exon_variant,,ENST00000482321,;DMKN,non_coding_transcript_exon_variant,,ENST00000471786,;DMKN,non_coding_transcript_exon_variant,,ENST00000471017,;DMKN,intron_variant,,ENST00000476246,;DMKN,intron_variant,,ENST00000493517,;DMKN,intron_variant,,ENST00000488762,;DMKN,upstream_gene_variant,,ENST00000472365,;DMKN,upstream_gene_variant,,ENST00000469960,;DMKN,upstream_gene_variant,,ENST00000478648,;DMKN,upstream_gene_variant,,ENST00000601368,;DMKN,downstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000486756,;DMKN,downstream_gene_variant,,ENST00000480507,;DMKN,downstream_gene_variant,,ENST00000595571,;DMKN,upstream_gene_variant,,ENST00000470964,;DMKN,downstream_gene_variant,,ENST00000462538,;DMKN,downstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000484064,;	1354	130	129	SUCCESS
B9D2	80776	.	GRCh37	19	41860749	41860749	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	97	0	ENST00000243578.3:c.384G>T	p.Val128=	p.V128=	ENST00000243578	NM_030578.3	128	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12579.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCACGAA	NONE	.	.	hmmpanther:PTHR12968,Pfam_domain:PF07162	.	.	ENSP00000243578	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243578	Transcript	1	.	ENSG00000123810	28636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B9D2_HUMAN	B9D2	HGNC	.	.	UPI000013CB3B	SNV	B9D2,synonymous_variant,p.%3D,ENST00000243578,;TMEM91,intron_variant,,ENST00000604123,;TMEM91,intron_variant,,ENST00000539627,;TGFB1,upstream_gene_variant,,ENST00000221930,;CTC-435M10.3,intron_variant,,ENST00000604424,;B9D2,3_prime_UTR_variant,,ENST00000594416,;	604	97	94	SUCCESS
TPRX1	284355	.	GRCh37	19	48305543	48305543	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765636340	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	91	0	ENST00000322175.3:c.725C>T	p.Pro242Leu	p.P242L	ENST00000322175	NM_198479.2	242	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33066.1	725	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGATTGGGCCT	BUFFER|p.P240S|c.718C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF18	.	.	ENSP00000323455	.	2/2	.	.	.	.	.	.	.	.	rs765636340	2/2	PASS	ENST00000322175	Transcript	.	.	ENSG00000178928	32174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.02)	.	TPRX1_HUMAN	TPRX1	HGNC	.	.	UPI0000198666	SNV	TPRX1,missense_variant,p.Pro232Leu,ENST00000543508,;TPRX1,missense_variant,p.Pro242Leu,ENST00000322175,;TPRX1,missense_variant,p.Pro339Leu,ENST00000535759,;	881	91	75	SUCCESS
IL4I1	259307	.	GRCh37	19	50393835	50393835	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	33	0	ENST00000391826.2:c.796T>A	p.Trp266Arg	p.W266R	ENST00000391826	NM_152899.1	266	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS12786.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCAGCCAC	NONE	.	.	hmmpanther:PTHR10742:SF21,hmmpanther:PTHR10742,Gene3D:3.50.50.60,Pfam_domain:PF01593,Superfamily_domains:SSF51905	.	.	ENSP00000472474	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000595948	Transcript	.	.	ENSG00000104951	19094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	tolerated(0.05)	.	OXLA_HUMAN	IL4I1	HGNC	M0R1L1_HUMAN	.	UPI00001678CE	SNV	IL4I1,missense_variant,p.Trp288Arg,ENST00000341114,;IL4I1,missense_variant,p.Trp288Arg,ENST00000595948,;IL4I1,missense_variant,p.Trp266Arg,ENST00000391826,;TBC1D17,downstream_gene_variant,,ENST00000535102,;IL4I1,downstream_gene_variant,,ENST00000593956,;TBC1D17,downstream_gene_variant,,ENST00000221543,;MIR4750,downstream_gene_variant,,ENST00000584564,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;TBC1D17,downstream_gene_variant,,ENST00000594984,;TBC1D17,downstream_gene_variant,,ENST00000600354,;TBC1D17,downstream_gene_variant,,ENST00000596243,;	1483	33	29	SUCCESS
PRKCG	5582	.	GRCh37	19	54409615	54409615	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	71	0	ENST00000263431.3:c.1809T>A	p.Asp603Glu	p.D603E	ENST00000263431	NM_002739.3	603	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS12867.1	1809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGATGGGGA	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000263431	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,missense_variant,p.Asp454Glu,ENST00000542049,;PRKCG,missense_variant,p.Asp603Glu,ENST00000540413,;PRKCG,missense_variant,p.Asp603Glu,ENST00000263431,;CACNG7,upstream_gene_variant,,ENST00000391767,;CACNG7,upstream_gene_variant,,ENST00000468076,;	2091	71	70	SUCCESS
USP29	57663	.	GRCh37	19	57640310	57640310	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs746495447	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	60	164	1	ENST00000254181.4:c.267C>A	p.Tyr89Ter	p.Y89*	ENST00000254181	NM_020903.2	89	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS33124.1	267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTACAGAGA	NONE	.	.	hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006	.	.	ENSP00000254181	.	4/4	.	.	.	.	.	.	.	.	rs746495447	4/4	PASS	ENST00000254181	Transcript	.	.	ENSG00000131864	18563	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP29_HUMAN	USP29	HGNC	M0QZL0_HUMAN,A1L447_HUMAN	.	UPI0000137A01	SNV	USP29,stop_gained,p.Tyr89Ter,ENST00000598197,;USP29,stop_gained,p.Tyr89Ter,ENST00000254181,;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;	721	165	172	SUCCESS
ZNF416	55659	.	GRCh37	19	58084830	58084830	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765573804	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	41	107	0	ENST00000196489.3:c.442C>G	p.Pro148Ala	p.P148A	ENST00000196489	NM_017879.1	148	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS12954.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGGTTTCT	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF15	.	.	ENSP00000196489	.	4/4	.	.	.	.	.	.	.	.	rs765573804	4/4	PASS	ENST00000196489	Transcript	.	.	ENSG00000083817	20645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.22)	.	ZN416_HUMAN	ZNF416	HGNC	.	.	UPI000007314D	SNV	ZNF416,missense_variant,p.Pro148Ala,ENST00000196489,;ZIK1,upstream_gene_variant,,ENST00000598726,;	665	107	107	SUCCESS
ZNF530	348327	.	GRCh37	19	58111279	58111279	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs569976819	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	26	0	ENST00000332854.6:c.-194G>T		p.*65*	ENST00000332854	NM_020880.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12955.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGGGCAC	NONE	.	.	.	.	.	ENSP00000332861	.	1/3	.	.	.	.	.	.	.	.	rs569976819	1/3	PASS	ENST00000332854	Transcript	.	.	ENSG00000183647	29297	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN530_HUMAN	ZNF530	HGNC	M0R1P0_HUMAN	.	UPI0000199017	SNV	ZNF530,5_prime_UTR_variant,,ENST00000597864,;ZNF530,5_prime_UTR_variant,,ENST00000332854,;ZNF530,5_prime_UTR_variant,,ENST00000597700,;ZNF530,5_prime_UTR_variant,,ENST00000600619,;ZNF530,upstream_gene_variant,,ENST00000598297,;	27	26	25	SUCCESS
MED16	10025	.	GRCh37	19	868161	868161	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	55	0	ENST00000325464.1:c.2574A>T	p.Thr858=	p.T858=	ENST00000325464	NM_005481.2	858	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12047.1	2574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTGTGGA	NONE	.	.	.	.	.	ENSP00000325612	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000325464	Transcript	.	.	ENSG00000175221	17556	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED16_HUMAN	MED16	HGNC	K7EKX6_HUMAN,B9TX09_HUMAN	.	UPI0000141671	SNV	MED16,synonymous_variant,p.%3D,ENST00000325464,;MED16,synonymous_variant,p.%3D,ENST00000589119,;MED16,3_prime_UTR_variant,,ENST00000395808,;MED16,3_prime_UTR_variant,,ENST00000312090,;MED16,3_prime_UTR_variant,,ENST00000607471,;MED16,3_prime_UTR_variant,,ENST00000269814,;CFD,downstream_gene_variant,,ENST00000592860,;CFD,downstream_gene_variant,,ENST00000327726,;MED16,3_prime_UTR_variant,,ENST00000606248,;	2725	55	37	SUCCESS
MUC16	94025	.	GRCh37	19	9049962	9049962	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755813783	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	66	160	0	ENST00000397910.4:c.31669A>T	p.Thr10557Ser	p.T10557S	ENST00000397910	NM_024690.2	10557	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS54212.1	31669	RADIA|MUTECT|MUSE	.	TGGGGTTGTCC	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	rs755813783	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.092)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr10557Ser,ENST00000397910,;	31873	160	179	SUCCESS
MUC16	94025	.	GRCh37	19	9049967	9049967	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	63	164	0	ENST00000397910.4:c.31664G>T	p.Arg10555Met	p.R10555M	ENST00000397910	NM_024690.2	10555	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS54212.1	31664	RADIA|MUTECT|MUSE	.	TTGTCCTGGGA	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	COSM4083244,COSM4083243	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	possibly_damaging(0.702)	.	.	1,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Arg10555Met,ENST00000397910,;	31868	164	178	SUCCESS
IGSF3	3321	.	GRCh37	1	117120047	117120047	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	63	162	0	ENST00000369486.3:c.3472T>A	p.Ser1158Thr	p.S1158T	ENST00000369486	NM_001007237.2	1158	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30814.1	3532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAGTTCT	NONE	.	.	hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21	.	.	ENSP00000358495	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.53)	.	deleterious(0.01)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Ser1178Thr,ENST00000318837,;IGSF3,missense_variant,p.Ser1158Thr,ENST00000369486,;IGSF3,missense_variant,p.Ser1178Thr,ENST00000369483,;	4237	162	150	SUCCESS
CCNL2	81669	.	GRCh37	1	1334013	1334013	+	synonymous_variant	Silent	SNP	G	G	A	rs1215265521	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	73	195	1	ENST00000400809.3:c.327C>T	p.Phe109=	p.F109=	ENST00000400809	NM_030937.4	109	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS30557.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGAACCG	NONE	.	.	Superfamily_domains:SSF47954,SMART_domains:SM00385,PIRSF_domain:PIRSF036580,Pfam_domain:PF00134,Gene3D:1.10.472.10,hmmpanther:PTHR10026:SF45,hmmpanther:PTHR10026	.	.	ENSP00000383611	.	2/11	.	.	.	.	.	.	.	.	COSM894974,COSM1583350	2/11	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,synonymous_variant,p.%3D,ENST00000400809,;CCNL2,synonymous_variant,p.%3D,ENST00000408918,;CCNL2,synonymous_variant,p.%3D,ENST00000497013,;RP4-758J18.2,upstream_gene_variant,,ENST00000444362,;RP4-758J18.2,upstream_gene_variant,,ENST00000570344,;MRPL20,downstream_gene_variant,,ENST00000344843,;RP4-758J18.2,upstream_gene_variant,,ENST00000448629,;CCNL2,upstream_gene_variant,,ENST00000408952,;RP4-758J18.2,upstream_gene_variant,,ENST00000576232,;MRPL20,downstream_gene_variant,,ENST00000492508,;CCNL2,upstream_gene_variant,,ENST00000471930,;RP4-758J18.2,upstream_gene_variant,,ENST00000453521,;MRPL20,downstream_gene_variant,,ENST00000493287,;CCNL2,missense_variant,p.Leu120Phe,ENST00000425598,;CCNL2,synonymous_variant,p.%3D,ENST00000481223,;CCNL2,synonymous_variant,p.%3D,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;RP4-758J18.2,upstream_gene_variant,,ENST00000572242,;CCNL2,upstream_gene_variant,,ENST00000463895,;MRPL20,downstream_gene_variant,,ENST00000487659,;RP4-758J18.2,upstream_gene_variant,,ENST00000418833,;CCNL2,upstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000482621,;RP4-758J18.2,upstream_gene_variant,,ENST00000447725,;	333	197	132	SUCCESS
PRAMEF17	391004	.	GRCh37	1	13716891	13716891	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	75	238	1	ENST00000376098.4:c.378A>G	p.Pro126=	p.P126=	ENST00000376098	NM_001099851.1	126	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41264.1	378	RADIA|MUTECT|MUSE	.	TCCCCAGAGGC	NONE	.	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224	.	.	ENSP00000365266	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000376098	Transcript	.	.	ENSG00000204479	29485	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRA17_HUMAN	PRAMEF17	HGNC	.	.	UPI0000458AD3	SNV	PRAMEF17,synonymous_variant,p.%3D,ENST00000376098,;	404	239	244	SUCCESS
ISG20L2	81875	.	GRCh37	1	156696883	156696883	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	57	141	0	ENST00000313146.6:c.562G>A	p.Gly188Ser	p.G188S	ENST00000313146	NM_030980.1	188	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1153.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCCACCA	NONE	.	.	hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF59,Gene3D:3.30.420.10,Pfam_domain:PF00929,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000323424	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000313146	Transcript	.	.	ENSG00000143319	25745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	I20L2_HUMAN	ISG20L2	HGNC	.	.	UPI000006D42B	SNV	ISG20L2,missense_variant,p.Gly188Ser,ENST00000368219,;ISG20L2,missense_variant,p.Gly188Ser,ENST00000313146,;RRNAD1,upstream_gene_variant,,ENST00000476229,;RRNAD1,upstream_gene_variant,,ENST00000524343,;RRNAD1,upstream_gene_variant,,ENST00000368218,;RRNAD1,upstream_gene_variant,,ENST00000368216,;RRNAD1,upstream_gene_variant,,ENST00000519086,;RRNAD1,upstream_gene_variant,,ENST00000484742,;ISG20L2,non_coding_transcript_exon_variant,,ENST00000496538,;ISG20L2,downstream_gene_variant,,ENST00000469074,;ISG20L2,downstream_gene_variant,,ENST00000470713,;ISG20L2,upstream_gene_variant,,ENST00000472824,;	1345	141	143	SUCCESS
F11R	50848	.	GRCh37	1	160970507	160970507	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	77	0	ENST00000368026.6:c.302G>C	p.Arg101Pro	p.R101P	ENST00000368026	NM_016946.4	101	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS1213.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCGTGTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF4,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357005	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000368026	Transcript	.	.	ENSG00000158769	14685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JAM1_HUMAN	F11R	HGNC	Q6FIB4_HUMAN	.	UPI0000000DC1	SNV	F11R,missense_variant,p.Arg101Pro,ENST00000368026,;F11R,intron_variant,,ENST00000537746,;F11R,non_coding_transcript_exon_variant,,ENST00000472573,;F11R,non_coding_transcript_exon_variant,,ENST00000335772,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000470694,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000289779,;F11R,downstream_gene_variant,,ENST00000602966,;	577	77	99	SUCCESS
SPEN	23013	.	GRCh37	1	16255901	16255901	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	65	187	0	ENST00000375759.3:c.3166A>T	p.Arg1056Ter	p.R1056*	ENST00000375759	NM_015001.2	1056	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS164.1	3166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACAGACTT	NONE	.	.	hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,stop_gained,p.Arg1056Ter,ENST00000375759,;	3370	187	175	SUCCESS
CROCCP3	114819	.	GRCh37	1	16804870	16804870	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	37	0	ENST00000263511.4:n.2067A>T		p.*689*	ENST00000263511				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTGCCGC	NONE	.	.	.	.	.	.	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000263511	Transcript	.	.	ENSG00000080947	29405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CROCCP3	HGNC	.	.	.	SNV	CROCCP3,non_coding_transcript_exon_variant,,ENST00000591348,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000263511,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000591316,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000420820,;	2067	37	34	SUCCESS
CACNA1E	777	.	GRCh37	1	181725136	181725136	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758495194	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	43	144	0	ENST00000367573.2:c.4034G>T	p.Gly1345Val	p.G1345V	ENST00000367573	NM_001205293.1	1345	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS55664.1	4034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGCCGGG	NONE	byFrequency	.	Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	29/48	.	.	.	.	.	.	.	.	rs758495194,COSM531333,COSM1138860	29/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.998)	.	tolerated(0.06)	0,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Gly1277Val,ENST00000358338,;CACNA1E,missense_variant,p.Gly952Val,ENST00000367567,;CACNA1E,missense_variant,p.Gly1296Val,ENST00000357570,;CACNA1E,missense_variant,p.Gly1326Val,ENST00000360108,;CACNA1E,missense_variant,p.Gly1326Val,ENST00000526775,;CACNA1E,missense_variant,p.Gly1345Val,ENST00000367573,;CACNA1E,missense_variant,p.Gly1345Val,ENST00000367570,;	4034	144	126	SUCCESS
UBR4	23352	.	GRCh37	1	19464665	19464665	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	30	0	ENST00000375254.3:c.8742G>T	p.Arg2914=	p.R2914=	ENST00000375254	NM_020765.2	2914	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS189.1	8742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCGGCC	NONE	.	.	hmmpanther:PTHR21725	.	.	ENSP00000364403	.	60/106	.	.	.	.	.	.	.	.	.	60/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000417040,;UBR4,synonymous_variant,p.%3D,ENST00000425413,;UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;	8770	30	47	SUCCESS
OTUD3	23252	.	GRCh37	1	20209136	20209138	+	inframe_deletion	In_Frame_Del	DEL	GGC	GGC	-	rs760015062	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	GGC	GGC	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	79	0	ENST00000375120.3:c.142_144del	p.Gly48del	p.G48del	ENST00000375120	NM_015207.1	44	GGC/-	0	-:0.0035	.	.	.	.	-	G/-	protein_coding	YES	CCDS41279.1	130-132	INDELOCATOR|VARSCANI	.	GAGTCTGGCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12419:SF5,hmmpanther:PTHR12419,Superfamily_domains:SSF54001	.	-:0.0098	ENSP00000364261	.	1/8	.	.	.	.	.	.	.	.	rs760015062	1/8	common_in_exac	ENST00000375120	Transcript	.	.	ENSG00000169914	29038	12	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OTUD3_HUMAN	OTUD3	HGNC	Q0VDK5_HUMAN	.	UPI000004DB04	deletion	OTUD3,inframe_deletion,p.Gly48del,ENST00000375120,;	131-133	79	81	SUCCESS
CDK18	5129	.	GRCh37	1	205497176	205497219	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	GACTGGCCAGGGCCAAGTCAGTGCCCACAAAGACTTACTCCAAT	GACTGGCCAGGGCCAAGTCAGTGCCCACAAAGACTTACTCCAAT	-	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	GACTGGCCAGGGCCAAGTCAGTGCCCACAAAGACTTACTCCAAT	GACTGGCCAGGGCCAAGTCAGTGCCCACAAAGACTTACTCCAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	130	45	181	0	ENST00000506784.1:c.946_989del	p.Leu316GlyfsTer23	p.L316Gfs*23	ENST00000506784		315	gGACTGGCCAGGGCCAAGTCAGTGCCCACAAAGACTTACTCCAAT/g	0	.	.	.	.	.	-	GLARAKSVPTKTYSN/X	protein_coding	YES	CCDS1454.1	944-987	INDELOCATOR*|PINDEL	.	CCCCAGGACTGGCCAGGGCCAAGTCAGTGCCCACAAAGACTTACTCCAATGAGGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24056:SF52,hmmpanther:PTHR24056,PROSITE_profiles:PS50011	.	.	ENSP00000423665	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000506784	Transcript	.	.	ENSG00000117266	8751	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDK18_HUMAN	CDK18	HGNC	Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN	.	UPI000035030C	deletion	CDK18,frameshift_variant,p.Leu286GlyfsTer23,ENST00000360066,;CDK18,frameshift_variant,p.Leu316GlyfsTer23,ENST00000506784,;CDK18,frameshift_variant,p.Leu286GlyfsTer23,ENST00000429964,;CDK18,downstream_gene_variant,,ENST00000478560,;CDK18,downstream_gene_variant,,ENST00000443813,;CDK18,downstream_gene_variant,,ENST00000419301,;CDK18,downstream_gene_variant,,ENST00000506215,;CDK18,splice_region_variant,,ENST00000506489,;CDK18,splice_region_variant,,ENST00000509056,;CDK18,splice_region_variant,,ENST00000505932,;CDK18,non_coding_transcript_exon_variant,,ENST00000468954,;CDK18,upstream_gene_variant,,ENST00000484080,;CDK18,downstream_gene_variant,,ENST00000507067,;CDK18,upstream_gene_variant,,ENST00000515514,;CDK18,downstream_gene_variant,,ENST00000507240,;CDK18,upstream_gene_variant,,ENST00000512008,;CDK18,upstream_gene_variant,,ENST00000459862,;CDK18,splice_region_variant,,ENST00000489617,;CDK18,splice_region_variant,,ENST00000504648,;CDK18,splice_region_variant,,ENST00000515494,;CDK18,downstream_gene_variant,,ENST00000462976,;CDK18,downstream_gene_variant,,ENST00000476153,;CDK18,upstream_gene_variant,,ENST00000504162,;CDK18,downstream_gene_variant,,ENST00000512922,;	1164-1207	181	175	SUCCESS
HSPG2	3339	.	GRCh37	1	22201403	22201403	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	54	151	0	ENST00000374695.3:c.3395A>T	p.Tyr1132Phe	p.Y1132F	ENST00000374695	NM_005529.5	1132	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS30625.1	3395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGTACCCG	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,PROSITE_patterns:PS01186,Pfam_domain:PF00053	.	.	ENSP00000363827	.	26/97	.	.	.	.	.	.	.	.	.	26/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Tyr1132Phe,ENST00000374695,;HSPG2,upstream_gene_variant,,ENST00000427897,;HSPG2,non_coding_transcript_exon_variant,,ENST00000498495,;HSPG2,downstream_gene_variant,,ENST00000480900,;	3475	151	141	SUCCESS
OR2L2	26246	.	GRCh37	1	248202349	248202349	+	synonymous_variant	Silent	SNP	T	T	C	rs777800163	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	32	79	2	ENST00000366479.2:c.780T>C	p.Arg260=	p.R260=	ENST00000366479	NM_001004686.2	260	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS31103.1	780	SOMATICSNIPER|VARSCANS	.	GTACGTCCAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000355435	.	1/1	.	.	.	.	.	.	.	.	rs777800163	1/1	PASS	ENST00000366479	Transcript	.	.	ENSG00000203663	8266	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2L2_HUMAN	OR2L2	HGNC	.	.	UPI0000061EAA	SNV	OR2L2,synonymous_variant,p.%3D,ENST00000366479,;OR2L13,intron_variant,,ENST00000366478,;	876	81	88	SUCCESS
ZMYM6	9204	.	GRCh37	1	35452801	35452801	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	49	0	ENST00000357182.4:c.3882A>T	p.Ser1294=	p.S1294=	ENST00000357182	NM_007167.3	1294	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS387.2	3882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTGACTC	NONE	.	.	hmmpanther:PTHR11697:SF92,hmmpanther:PTHR11697	.	.	ENSP00000349708	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000357182	Transcript	.	.	ENSG00000163867	13050	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM6_HUMAN	ZMYM6	HGNC	Q7L9K1_HUMAN,A4Z946_HUMAN	.	UPI000040EBC6	SNV	ZMYM6,synonymous_variant,p.%3D,ENST00000357182,;ZMYM6,intron_variant,,ENST00000373340,;ZMYM6NB,upstream_gene_variant,,ENST00000373337,;RP11-244H3.1,upstream_gene_variant,,ENST00000417456,;ZMYM6,non_coding_transcript_exon_variant,,ENST00000493328,;RP11-244H3.4,intron_variant,,ENST00000487874,;	4110	49	49	SUCCESS
ZMYM4	9202	.	GRCh37	1	35851192	35851192	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	63	0	ENST00000314607.6:c.1719A>T		p.X573_splice	ENST00000314607	NM_005095.2	573	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS389.1	1719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGGTAA	NONE	.	.	hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,synonymous_variant,p.%3D,ENST00000314607,;ZMYM4,intron_variant,,ENST00000457946,;ZMYM4,intron_variant,,ENST00000373297,;	1799	63	66	SUCCESS
CYP4B1	1580	.	GRCh37	1	47278193	47278193	+	synonymous_variant	Silent	SNP	G	G	T	rs755650253	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	86	0	ENST00000271153.4:c.393G>T	p.Gly131=	p.G131=	ENST00000271153		131	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41328.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGCCCAA	NONE	.	.	hmmpanther:PTHR24290:SF43,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360991	.	4/12	.	.	.	.	.	.	.	.	rs755650253	4/12	PASS	ENST00000371923	Transcript	.	.	ENSG00000142973	2644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4B1_HUMAN	CYP4B1	HGNC	F5H1Q8_HUMAN,E7EME6_HUMAN	.	UPI0000073C54	SNV	CYP4B1,synonymous_variant,p.%3D,ENST00000371923,;CYP4B1,synonymous_variant,p.%3D,ENST00000271153,;CYP4B1,synonymous_variant,p.%3D,ENST00000371919,;CYP4B1,5_prime_UTR_variant,,ENST00000468637,;CYP4B1,5_prime_UTR_variant,,ENST00000526297,;CYP4B1,5_prime_UTR_variant,,ENST00000452782,;CYP4B1,downstream_gene_variant,,ENST00000546128,;CYP4B1,upstream_gene_variant,,ENST00000497005,;CYP4B1,missense_variant,p.Gly69Val,ENST00000534708,;CYP4B1,synonymous_variant,p.%3D,ENST00000464439,;CYP4B1,3_prime_UTR_variant,,ENST00000529715,;CYP4B1,upstream_gene_variant,,ENST00000481248,;	429	86	74	SUCCESS
AGBL4	84871	.	GRCh37	1	50317108	50317108	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	66	200	0	ENST00000371839.1:c.117C>G	p.Pro39=	p.P39=	ENST00000371839	NM_032785.3	39	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44137.1	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGGGCTG	NONE	.	.	hmmpanther:PTHR12756	.	.	ENSP00000360905	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000371839	Transcript	.	.	ENSG00000186094	25892	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC6_HUMAN	AGBL4	HGNC	.	.	UPI00002042F9	SNV	AGBL4,synonymous_variant,p.%3D,ENST00000371839,;AGBL4,synonymous_variant,p.%3D,ENST00000371838,;AGBL4,synonymous_variant,p.%3D,ENST00000371836,;AGBL4,non_coding_transcript_exon_variant,,ENST00000497451,;	234	200	193	SUCCESS
FOXD3	27022	.	GRCh37	1	63789824	63789824	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	17	0	ENST00000371116.2:c.1095G>A	p.Ala365=	p.A365=	ENST00000371116	NM_012183.2	365	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS624.1	1095	RADIA|MUTECT|MUSE	.	ACCGCGTCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF121,hmmpanther:PTHR11829	.	.	ENSP00000360157	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371116	Transcript	.	.	ENSG00000187140	3804	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXD3_HUMAN	FOXD3	HGNC	.	.	UPI000012ADCB	SNV	FOXD3,synonymous_variant,p.%3D,ENST00000371116,;RP4-792G4.2,intron_variant,,ENST00000427268,;RP4-792G4.2,upstream_gene_variant,,ENST00000431294,;RP4-792G4.2,upstream_gene_variant,,ENST00000418244,;RP4-792G4.2,upstream_gene_variant,,ENST00000449386,;RP4-792G4.2,upstream_gene_variant,,ENST00000426393,;	1095	17	11	SUCCESS
RAVER2	55225	.	GRCh37	1	65296632	65296632	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	67	217	1	ENST00000294428.3:c.2040C>A	p.Tyr680Ter	p.Y680*	ENST00000294428		680	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS41345.1	2001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTACATGGA	NONE	.	.	hmmpanther:PTHR23189:SF6,hmmpanther:PTHR23189	.	.	ENSP00000360112	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000371072	Transcript	.	.	ENSG00000162437	25577	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAVR2_HUMAN	RAVER2	HGNC	.	.	UPI000043DED2	SNV	RAVER2,stop_gained,p.Tyr680Ter,ENST00000294428,;RAVER2,stop_gained,p.Tyr219Ter,ENST00000430964,;RAVER2,stop_gained,p.Tyr667Ter,ENST00000371072,;JAK1,downstream_gene_variant,,ENST00000342505,;	2079	218	197	SUCCESS
SLC44A5	204962	.	GRCh37	1	75672389	75672389	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	54	0	ENST00000370855.5:c.2063G>C	p.Arg688Thr	p.R688T	ENST00000370855	NM_152697.4	688	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS667.1	2063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTTTCC	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385,Pfam_domain:PF04515	.	.	ENSP00000359892	.	24/24	.	.	.	.	.	.	.	.	COSM912130	24/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.904)	.	deleterious(0)	1	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,missense_variant,p.Arg558Thr,ENST00000535611,;SLC44A5,missense_variant,p.Arg688Thr,ENST00000370855,;SLC44A5,intron_variant,,ENST00000370859,;	2177	54	37	SUCCESS
ODF2L	57489	.	GRCh37	1	86822189	86822189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	38	0	ENST00000317336.7:c.1456C>A	p.Leu486Met	p.L486M	ENST00000317336	NM_001184765.1	486	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS41354.2	1456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGACTCT	NONE	.	.	hmmpanther:PTHR23162:SF7,hmmpanther:PTHR23162	.	.	ENSP00000359600	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000359242	Transcript	.	.	ENSG00000122417	29225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.625)	.	deleterious(0.05)	.	ODF2L_HUMAN	ODF2L	HGNC	B5ME44_HUMAN	.	UPI00001C1D6A	SNV	ODF2L,missense_variant,p.Leu457Met,ENST00000294678,;ODF2L,missense_variant,p.Leu486Met,ENST00000359242,;ODF2L,missense_variant,p.Leu486Met,ENST00000317336,;ODF2L,missense_variant,p.Leu457Met,ENST00000370567,;ODF2L,missense_variant,p.Leu326Met,ENST00000394731,;ODF2L,missense_variant,p.Leu333Met,ENST00000460698,;ODF2L,intron_variant,,ENST00000370566,;ODF2L,downstream_gene_variant,,ENST00000479890,;ODF2L,upstream_gene_variant,,ENST00000462648,;ODF2L,non_coding_transcript_exon_variant,,ENST00000524695,;ODF2L,downstream_gene_variant,,ENST00000463933,;ODF2L,missense_variant,p.Leu14Met,ENST00000531412,;ODF2L,intron_variant,,ENST00000476054,;ODF2L,downstream_gene_variant,,ENST00000496592,;ODF2L,downstream_gene_variant,,ENST00000486557,;ODF2L,upstream_gene_variant,,ENST00000473792,;ODF2L,downstream_gene_variant,,ENST00000472144,;ODF2L,downstream_gene_variant,,ENST00000534092,;ODF2L,downstream_gene_variant,,ENST00000488879,;	1738	38	63	SUCCESS
GBP2	2634	.	GRCh37	1	89587483	89587483	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1241007974	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	109	0	ENST00000370466.3:c.167A>G	p.Asn56Ser	p.N56S	ENST00000370466	NM_004120.4	56	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS719.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGTTCATC	NONE	.	.	PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF39,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540	.	.	ENSP00000359497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000370466	Transcript	.	.	ENSG00000162645	4183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	GBP2_HUMAN	GBP2	HGNC	Q8TCE5_HUMAN	.	UPI000013E19F	SNV	GBP2,missense_variant,p.Asn56Ser,ENST00000370466,;GBP2,upstream_gene_variant,,ENST00000463660,;GBP2,missense_variant,p.Asn56Ser,ENST00000464839,;	436	109	85	SUCCESS
ARFGEF2	10564	.	GRCh37	20	47602054	47602054	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	62	185	0	ENST00000371917.4:c.2180G>C	p.Arg727Pro	p.R727P	ENST00000371917	NM_006420.2	727	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS13411.1	2180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGGACAT	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000360985	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000371917	Transcript	1	.	ENSG00000124198	15853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BIG2_HUMAN	ARFGEF2	HGNC	Q59FR3_HUMAN	.	UPI000013D378	SNV	ARFGEF2,missense_variant,p.Arg727Pro,ENST00000371917,;	2180	185	160	SUCCESS
ZNF831	128611	.	GRCh37	20	57768711	57768711	+	synonymous_variant	Silent	SNP	T	T	A	rs772595178	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	56	149	1	ENST00000371030.2:c.2637T>A	p.Pro879=	p.P879=	ENST00000371030	NM_178457.2	879	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42894.1	2637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCTCTGGA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	rs772595178	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	2637	150	155	SUCCESS
CDH4	1002	.	GRCh37	20	60485571	60485571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	121	0	ENST00000360469.5:c.1282G>A	p.Ala428Thr	p.A428T	ENST00000360469	NM_001794.3	428	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13488.1	1282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGCCGTT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,PROSITE_profiles:PS50268	.	.	ENSP00000353656	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000360469	Transcript	.	.	ENSG00000179242	1763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.465)	.	deleterious(0.04)	.	CADH4_HUMAN	CDH4	HGNC	Q8ND09_HUMAN	.	UPI000015FE86	SNV	CDH4,missense_variant,p.Ala354Thr,ENST00000543233,;CDH4,missense_variant,p.Ala428Thr,ENST00000360469,;	1370	121	131	SUCCESS
DNAJC5	80331	.	GRCh37	20	62559694	62559694	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	37	0	ENST00000360864.4:c.-5C>G		p.*2*	ENST00000360864	NM_025219.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13546.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCCTAACA	NONE	.	.	.	.	.	ENSP00000354111	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000360864	Transcript	1	.	ENSG00000101152	16235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJC5_HUMAN	DNAJC5	HGNC	Q8TET0_HUMAN,Q6AHX3_HUMAN	.	UPI000012943C	SNV	DNAJC5,5_prime_UTR_variant,,ENST00000369911,;DNAJC5,5_prime_UTR_variant,,ENST00000360864,;DNAJC5,5_prime_UTR_variant,,ENST00000470551,;	149	37	50	SUCCESS
MYT1	4661	.	GRCh37	20	62839591	62839591	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	74	202	1	ENST00000328439.1:c.1042T>A	p.Ser348Thr	p.S348T	ENST00000328439	NM_004535.2	348	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS13558.1	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCTCGGAT	NONE	.	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	.	.	ENSP00000327465	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,missense_variant,p.Ser348Thr,ENST00000536311,;MYT1,missense_variant,p.Ser348Thr,ENST00000328439,;MYT1,intron_variant,,ENST00000360149,;	1406	203	201	SUCCESS
URB1	9875	.	GRCh37	21	33689094	33689094	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs548709746	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	42	1	ENST00000382751.3:c.6317G>T	p.Arg2106Leu	p.R2106L	ENST00000382751	NM_014825.2	2106	cGg/cTg	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS46645.1	6317	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGACCGCAGC	NONE	by1000G	.	hmmpanther:PTHR13500	T:0.001	.	ENSP00000372199	T:0	38/39	.	.	.	.	.	.	.	.	rs548709746	38/39	PASS	ENST00000382751	Transcript	.	T:0.0002	ENSG00000142207	17344	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.314)	T:0	deleterious(0)	.	NPA1P_HUMAN	URB1	HGNC	.	.	UPI0000185F65	SNV	URB1,missense_variant,p.Arg2106Leu,ENST00000382751,;MRAP,downstream_gene_variant,,ENST00000399784,;MRAP,downstream_gene_variant,,ENST00000303645,;MRAP,downstream_gene_variant,,ENST00000339944,;MRAP,downstream_gene_variant,,ENST00000399786,;MRAP,downstream_gene_variant,,ENST00000497833,;	6433	43	45	SUCCESS
OLIG2	10215	.	GRCh37	21	34400111	34400111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	15	0	ENST00000333337.3:c.941G>T	p.Ser314Ile	p.S314I	ENST00000333337		314	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS13620.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAGCCTGC	NONE	.	.	hmmpanther:PTHR19290:SF32,hmmpanther:PTHR19290	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,missense_variant,p.Ser314Ile,ENST00000382357,;OLIG2,missense_variant,p.Ser314Ile,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	1869	15	21	SUCCESS
IL10RB	3588	.	GRCh37	21	34655403	34655403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	88	0	ENST00000290200.2:c.503A>G	p.Gln168Arg	p.Q168R	ENST00000290200	NM_000628.4	168	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13623.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCAAATTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF50,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000290200	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000290200	Transcript	.	.	ENSG00000243646	5965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	tolerated(0.4)	.	I10R2_HUMAN	IL10RB	HGNC	.	.	UPI0000072ECA	SNV	IL10RB,missense_variant,p.Gln168Arg,ENST00000290200,;AP000295.9,missense_variant,p.Gln296Arg,ENST00000433395,;IL10RB,missense_variant,p.Gln105Arg,ENST00000451065,;AP000295.9,3_prime_UTR_variant,,ENST00000432231,;IL10RB,3_prime_UTR_variant,,ENST00000422891,;IL10RB,non_coding_transcript_exon_variant,,ENST00000493295,;IL10RB,non_coding_transcript_exon_variant,,ENST00000498371,;	611	88	84	SUCCESS
DYRK1A	1859	.	GRCh37	21	38877655	38877655	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs724159953	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	127	0	ENST00000398960.2:c.1309C>T	p.Arg437Ter	p.R437*	ENST00000398960	NM_001396.3	437	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS42925.1	1309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GTGGGCGACGT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220	.	.	ENSP00000381932	.	9/11	.	.	.	.	.	.	.	.	rs724159953,COSM1414045	9/11	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	0,1	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,stop_gained,p.Arg437Ter,ENST00000451934,;DYRK1A,stop_gained,p.Arg428Ter,ENST00000339659,;DYRK1A,stop_gained,p.Arg209Ter,ENST00000455387,;DYRK1A,stop_gained,p.Arg437Ter,ENST00000398956,;DYRK1A,stop_gained,p.Arg437Ter,ENST00000398960,;DYRK1A,stop_gained,p.Arg437Ter,ENST00000338785,;DYRK1A,stop_gained,p.Arg437Ter,ENST00000321219,;	1384	127	80	SUCCESS
ITGB2	3689	.	GRCh37	21	46311901	46311901	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	34	0	ENST00000302347.5:c.1235A>T	p.Gln412Leu	p.Q412L	ENST00000302347	NM_000211.3	412	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13716.1	1235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTGGAAG	NONE	.	.	Superfamily_domains:SSF69179,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Pfam_domain:PF00362,hmmpanther:PTHR10082:SF15,hmmpanther:PTHR10082	.	.	ENSP00000380948	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	tolerated(0.17)	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Gln412Leu,ENST00000397850,;ITGB2,missense_variant,p.Gln412Leu,ENST00000355153,;ITGB2,missense_variant,p.Gln412Leu,ENST00000397852,;ITGB2,missense_variant,p.Gln412Leu,ENST00000397857,;ITGB2,missense_variant,p.Gln412Leu,ENST00000302347,;ITGB2,missense_variant,p.Gln355Leu,ENST00000397854,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,non_coding_transcript_exon_variant,,ENST00000475170,;ITGB2,upstream_gene_variant,,ENST00000479202,;	1688	34	41	SUCCESS
RASD2	23551	.	GRCh37	22	35948024	35948024	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	19	0	ENST00000216127.4:c.746C>A	p.Ala249Asp	p.A249D	ENST00000216127	NM_014310.3	249	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13916.1	746	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CAAGGCCAAGG	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF229	.	.	ENSP00000216127	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000216127	Transcript	.	.	ENSG00000100302	18229	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	tolerated(0.6)	.	RHES_HUMAN	RASD2	HGNC	.	.	UPI000004980A	SNV	RASD2,missense_variant,p.Ala249Asp,ENST00000216127,;	1388	19	19	SUCCESS
CACNA1I	8911	.	GRCh37	22	40069972	40069972	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	47	0	ENST00000402142.3:c.4788G>T	p.Leu1596=	p.L1596=	ENST00000402142	NM_021096.3	1596	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46710.1	4788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGAAGCT	NONE	.	.	hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000385019	.	29/37	.	.	.	.	.	.	.	.	.	29/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,synonymous_variant,p.%3D,ENST00000401624,;CACNA1I,synonymous_variant,p.%3D,ENST00000407673,;CACNA1I,synonymous_variant,p.%3D,ENST00000402142,;CACNA1I,synonymous_variant,p.%3D,ENST00000400164,;CACNA1I,synonymous_variant,p.%3D,ENST00000336649,;CACNA1I,synonymous_variant,p.%3D,ENST00000404898,;	4788	47	36	SUCCESS
PRR5	55615	.	GRCh37	22	45132780	45132780	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376477477	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	105	0	ENST00000336985.6:c.820G>T	p.Gly274Cys	p.G274C	ENST00000336985	NM_181333.3	274	Ggc/Tgc	0	A:0	.	.	.	.	T	G/C	protein_coding	YES	CCDS56232.1	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGGCGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR32428,hmmpanther:PTHR32428:SF4,Low_complexity_(Seg):seg	.	A:0.0001	ENSP00000384848	.	10/10	.	.	.	.	.	.	.	.	rs376477477	10/10	PASS	ENST00000403581	Transcript	.	.	ENSG00000186654	31682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	deleterious(0.01)	.	PRR5_HUMAN	PRR5	HGNC	B1AHG4_HUMAN,B1AHG3_HUMAN	.	UPI00002327F8	SNV	PRR5,missense_variant,p.Gly297Cys,ENST00000403581,;PRR5,missense_variant,p.Gly265Cys,ENST00000432186,;PRR5,missense_variant,p.Gly274Cys,ENST00000336985,;PRR5,missense_variant,p.Gly234Cys,ENST00000455389,;PRR5,missense_variant,p.Gly265Cys,ENST00000006251,;PRR5-ARHGAP8,intron_variant,,ENST00000352766,;PRR5-ARHGAP8,intron_variant,,ENST00000515632,;ARHGAP8,intron_variant,,ENST00000517296,;ARHGAP8,intron_variant,,ENST00000389773,;PRR5-ARHGAP8,intron_variant,,ENST00000361473,;PRR5,downstream_gene_variant,,ENST00000457960,;PRR5,downstream_gene_variant,,ENST00000403696,;PRR5,non_coding_transcript_exon_variant,,ENST00000477331,;PRR5,downstream_gene_variant,,ENST00000492475,;PRR5,3_prime_UTR_variant,,ENST00000431834,;PRR5,3_prime_UTR_variant,,ENST00000432916,;PRR5,non_coding_transcript_exon_variant,,ENST00000475850,;PRR5,non_coding_transcript_exon_variant,,ENST00000495017,;PRR5-ARHGAP8,intron_variant,,ENST00000495250,;	1498	105	80	SUCCESS
MAPK11	5600	.	GRCh37	22	50706332	50706332	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	118	0	ENST00000330651.6:c.163C>T	p.Leu55=	p.L55=	ENST00000330651	NM_002751.5	55	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14090.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACAGCTTCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF109,PROSITE_profiles:PS50011	.	.	ENSP00000333685	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000330651	Transcript	.	.	ENSG00000185386	6873	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MK11_HUMAN	MAPK11	HGNC	L7RT27_HUMAN	.	UPI000002AE12	SNV	MAPK11,synonymous_variant,p.%3D,ENST00000330651,;MAPK11,5_prime_UTR_variant,,ENST00000449719,;MAPK11,non_coding_transcript_exon_variant,,ENST00000495277,;MAPK11,synonymous_variant,p.%3D,ENST00000417877,;MAPK11,synonymous_variant,p.%3D,ENST00000395764,;	264	118	114	SUCCESS
ODC1	4953	.	GRCh37	2	10581984	10581984	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	71	1	ENST00000234111.4:c.985A>G	p.Ile329Val	p.I329V	ENST00000234111	NM_002539.1	329	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1672.1	985	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTATGCAAT	NONE	.	.	hmmpanther:PTHR11482:SF42,hmmpanther:PTHR11482,Pfam_domain:PF00278,Gene3D:2.40.37.10,Superfamily_domains:SSF50621,Prints_domain:PR01182	.	.	ENSP00000234111	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000234111	Transcript	.	.	ENSG00000115758	8109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	tolerated(0.51)	.	DCOR_HUMAN	ODC1	HGNC	C9JG30_HUMAN	.	UPI0000001283	SNV	ODC1,missense_variant,p.Ile329Val,ENST00000234111,;ODC1,missense_variant,p.Ile329Val,ENST00000405333,;ODC1,downstream_gene_variant,,ENST00000443218,;SNORA80B,downstream_gene_variant,,ENST00000383906,;ODC1,downstream_gene_variant,,ENST00000446285,;	1496	72	66	SUCCESS
CCDC93	54520	.	GRCh37	2	118735578	118735578	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	47	0	ENST00000376300.2:c.649A>T	p.Met217Leu	p.M217L	ENST00000376300	NM_019044.4	217	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS2121.2	649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATTTTGC	NONE	.	.	hmmpanther:PTHR16441	.	.	ENSP00000365477	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000376300	Transcript	.	.	ENSG00000125633	25611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.24)	.	CCD93_HUMAN	CCDC93	HGNC	.	.	UPI0000207DEC	SNV	CCDC93,missense_variant,p.Met217Leu,ENST00000376300,;CCDC93,missense_variant,p.Met216Leu,ENST00000319432,;CCDC93,non_coding_transcript_exon_variant,,ENST00000460781,;	787	47	60	SUCCESS
MARCO	8685	.	GRCh37	2	119752067	119752067	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	61	0	ENST00000327097.4:c.1534G>T	p.Glu512Ter	p.E512*	ENST00000327097	NM_006770.3	512	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS2124.1	1534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGGAGGAC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	.	.	ENSP00000318916	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000327097	Transcript	.	.	ENSG00000019169	6895	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARCO_HUMAN	MARCO	HGNC	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN	.	UPI0000000DF8	SNV	MARCO,stop_gained,p.Glu512Ter,ENST00000327097,;MARCO,stop_gained,p.Glu434Ter,ENST00000541757,;MARCO,non_coding_transcript_exon_variant,,ENST00000494979,;	1669	61	50	SUCCESS
POTEF	728378	.	GRCh37	2	130872454	130872454	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1007386025	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	64	0	ENST00000357462.5:c.810G>A		p.X270_splice	ENST00000357462		270	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS46409.1	810	RADIA|SOMATICSNIPER|VARSCANS	.	TATACCTTGTT	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,Pfam_domain:PF00023,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000350052	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,synonymous_variant,p.%3D,ENST00000361163,;POTEF,synonymous_variant,p.%3D,ENST00000357462,;POTEF,synonymous_variant,p.%3D,ENST00000360967,;POTEF,synonymous_variant,p.%3D,ENST00000409914,;	904	64	59	SUCCESS
MCM6	4175	.	GRCh37	2	136622693	136622693	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	52	0	ENST00000264156.2:c.968A>T	p.Glu323Val	p.E323V	ENST00000264156	NM_005915.5	323	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2179.1	968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCTCAGCT	NONE	.	.	hmmpanther:PTHR11630:SF73,hmmpanther:PTHR11630,SMART_domains:SM00350	.	.	ENSP00000264156	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000264156	Transcript	.	.	ENSG00000076003	6949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	deleterious(0.01)	.	MCM6_HUMAN	MCM6	HGNC	Q53T61_HUMAN,Q4ZG57_HUMAN	.	UPI0000001611	SNV	MCM6,missense_variant,p.Glu323Val,ENST00000264156,;MCM6,upstream_gene_variant,,ENST00000492091,;	1029	52	52	SUCCESS
NEB	4703	.	GRCh37	2	152529088	152529088	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs375155384	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	92	0	ENST00000172853.10:c.4094A>T	p.Gln1365Leu	p.Q1365L	ENST00000172853		1365	cAg/cTg	0	A:0	.	.	.	.	A	Q/L	protein_coding	YES	CCDS54407.1	4094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGCAGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	A:0.0001	ENSP00000380505	.	37/182	.	.	.	.	.	.	.	.	rs375155384	37/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Gln1365Leu,ENST00000603639,;NEB,missense_variant,p.Gln1365Leu,ENST00000172853,;NEB,missense_variant,p.Gln1365Leu,ENST00000427231,;NEB,missense_variant,p.Gln1365Leu,ENST00000397345,;NEB,missense_variant,p.Gln1365Leu,ENST00000604864,;NEB,missense_variant,p.Gln1365Leu,ENST00000409198,;NEB,upstream_gene_variant,,ENST00000484968,;	4297	92	87	SUCCESS
DHRS9	10170	.	GRCh37	2	169940058	169940058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	50	0	ENST00000357546.2:c.533C>T	p.Pro178Leu	p.P178L	ENST00000357546	NM_199204.1	178	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2231.1	533	RADIA|MUTECT|MUSE	.	TACTCCATCCA	NONE	.	.	Prints_domain:PR00081,Prints_domain:PR00080,Superfamily_domains:SSF51735,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24316:SF266,hmmpanther:PTHR24316	.	.	ENSP00000316670	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000327239	Transcript	.	.	ENSG00000073737	16888	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.32)	.	DHRS9_HUMAN	DHRS9	HGNC	Q53TL1_HUMAN,Q4ZG83_HUMAN,C9J430_HUMAN	.	UPI00000389D3	SNV	DHRS9,missense_variant,p.Pro178Leu,ENST00000602501,;DHRS9,missense_variant,p.Pro178Leu,ENST00000327239,;DHRS9,missense_variant,p.Pro178Leu,ENST00000436483,;DHRS9,missense_variant,p.Pro238Leu,ENST00000432060,;DHRS9,missense_variant,p.Pro178Leu,ENST00000428522,;DHRS9,missense_variant,p.Pro178Leu,ENST00000357546,;DHRS9,missense_variant,p.Pro31Leu,ENST00000421653,;DHRS9,missense_variant,p.Pro178Leu,ENST00000412271,;DHRS9,downstream_gene_variant,,ENST00000450153,;	2037	50	86	SUCCESS
TTN	7273	.	GRCh37	2	179472543	179472543	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	49	0	ENST00000591111.1:c.48048A>T	p.Glu16016Asp	p.E16016D	ENST00000591111		16016	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS59435.1	52971	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGTGTTTCTCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	276/363	.	.	.	.	.	.	.	.	.	276/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu8717Asp,ENST00000359218,;TTN,missense_variant,p.Glu16016Asp,ENST00000591111,;TTN,missense_variant,p.Glu17657Asp,ENST00000589042,;TTN,missense_variant,p.Glu15089Asp,ENST00000342992,;TTN,missense_variant,p.Glu8784Asp,ENST00000342175,;TTN,missense_variant,p.Glu8592Asp,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	53196	49	51	SUCCESS
ITGA4	3676	.	GRCh37	2	182322310	182322310	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	54	0	ENST00000397033.2:c.-72G>T		p.*24*	ENST00000397033	NM_000885.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42788.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTGGCCAA	NONE	.	.	.	.	.	ENSP00000380227	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,5_prime_UTR_variant,,ENST00000339307,;ITGA4,5_prime_UTR_variant,,ENST00000233573,;ITGA4,5_prime_UTR_variant,,ENST00000397033,;ITGA4,upstream_gene_variant,,ENST00000478440,;ITGA4,non_coding_transcript_exon_variant,,ENST00000465522,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476089,;ITGA4,upstream_gene_variant,,ENST00000484404,;	359	54	55	SUCCESS
DNAH7	56171	.	GRCh37	2	196749353	196749353	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	39	91	0	ENST00000312428.6:c.5719T>A	p.Phe1907Ile	p.F1907I	ENST00000312428	NM_018897.2	1907	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS42794.1	5719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAATGGGA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	35/65	.	.	.	.	.	.	.	.	.	35/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Phe1907Ile,ENST00000312428,;	5820	91	107	SUCCESS
ORC2	4999	.	GRCh37	2	201791508	201791508	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	40	68	0	ENST00000234296.2:c.1033G>A	p.Gly345Arg	p.G345R	ENST00000234296	NM_006190.4	345	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2334.1	1033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCCAGGAA	NONE	.	.	hmmpanther:PTHR14052,hmmpanther:PTHR14052:SF0,Pfam_domain:PF04084	.	.	ENSP00000234296	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000234296	Transcript	.	.	ENSG00000115942	8488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	ORC2_HUMAN	ORC2	HGNC	C9JK08_HUMAN,B8ZZ80_HUMAN	.	UPI0000130E5A	SNV	ORC2,missense_variant,p.Gly345Arg,ENST00000234296,;RN7SL694P,upstream_gene_variant,,ENST00000584245,;ORC2,non_coding_transcript_exon_variant,,ENST00000464147,;	1283	68	82	SUCCESS
STK36	27148	.	GRCh37	2	219564008	219564008	+	synonymous_variant	Silent	SNP	A	A	T	rs756848717	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	106	0	ENST00000295709.3:c.3741A>T	p.Pro1247=	p.P1247=	ENST00000295709	NM_015690.4	1247	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2421.1	3741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAAATGT	NONE	.	.	hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371	.	.	ENSP00000295709	.	26/27	.	.	.	.	.	.	.	.	rs756848717	26/27	PASS	ENST00000295709	Transcript	.	.	ENSG00000163482	17209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK36_HUMAN	STK36	HGNC	C9JDA4_HUMAN,C9J1B8_HUMAN	.	UPI00000342FC	SNV	STK36,synonymous_variant,p.%3D,ENST00000392105,;STK36,synonymous_variant,p.%3D,ENST00000295709,;STK36,synonymous_variant,p.%3D,ENST00000440309,;STK36,synonymous_variant,p.%3D,ENST00000392106,;STK36,3_prime_UTR_variant,,ENST00000419433,;STK36,downstream_gene_variant,,ENST00000486644,;STK36,downstream_gene_variant,,ENST00000473681,;STK36,downstream_gene_variant,,ENST00000462031,;	4020	106	111	SUCCESS
DNER	92737	.	GRCh37	2	230312104	230312104	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	107	300	0	ENST00000341772.4:c.1414T>A	p.Cys472Ser	p.C472S	ENST00000341772	NM_139072.3	472	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS33390.1	1414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACAGAAGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000345229	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,missense_variant,p.Cys472Ser,ENST00000341772,;	1549	300	308	SUCCESS
GIGYF2	26058	.	GRCh37	2	233708845	233708845	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	80	241	0	ENST00000373563.4:c.2979C>G	p.Ser993Arg	p.S993R	ENST00000373563	NM_001103146.1	993	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS46542.1	3042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCAAACC	NONE	.	.	hmmpanther:PTHR14445:SF38,hmmpanther:PTHR14445	.	.	ENSP00000387170	.	26/31	.	.	.	.	.	.	.	.	.	26/31	PASS	ENST00000409451	Transcript	.	.	ENSG00000204120	11960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PERQ2_HUMAN	GIGYF2	HGNC	C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN	.	UPI00003FEC8F	SNV	GIGYF2,missense_variant,p.Ser993Arg,ENST00000373563,;GIGYF2,missense_variant,p.Ser993Arg,ENST00000409547,;GIGYF2,missense_variant,p.Gln836Glu,ENST00000452341,;GIGYF2,missense_variant,p.Ser1015Arg,ENST00000373566,;GIGYF2,missense_variant,p.Ser1015Arg,ENST00000409480,;GIGYF2,missense_variant,p.Ser987Arg,ENST00000409196,;GIGYF2,missense_variant,p.Ser22Arg,ENST00000426102,;GIGYF2,missense_variant,p.Ser1014Arg,ENST00000409451,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000471011,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;	3268	241	254	SUCCESS
RBM44	375316	.	GRCh37	2	238727032	238727032	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	87	229	0	ENST00000316997.4:c.1473A>G	p.Val491=	p.V491=	ENST00000316997	NM_001080504.2	491	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS46554.1	1473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTAGTATC	NONE	.	.	.	.	.	ENSP00000321179	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000316997	Transcript	.	.	ENSG00000177483	24756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM44_HUMAN	RBM44	HGNC	.	.	UPI000179A941	SNV	RBM44,synonymous_variant,p.%3D,ENST00000409864,;RBM44,synonymous_variant,p.%3D,ENST00000316997,;RBM44,intron_variant,,ENST00000444524,;LRRFIP1,downstream_gene_variant,,ENST00000489603,;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,;	1605	229	201	SUCCESS
HDAC4	9759	.	GRCh37	2	239975278	239975281	+	protein_altering_variant	In_Frame_Del	DEL	CAGG	CAGG	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	CAGG	CAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	76	0	ENST00000345617.3:c.3090_3093delinsT	p.Leu1031del	p.L1031del	ENST00000345617	NM_006037.3	1030	tgCCTG/tgT	0	.	.	.	.	.	A	CL/C	protein_coding	YES	CCDS2529.1	3090-3093	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGCTGCAGGCAGCG	NONE	.	.	hmmpanther:PTHR10625:SF100,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF09757,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768	.	.	ENSP00000264606	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000345617	Transcript	.	.	ENSG00000068024	14063	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HDAC4_HUMAN	HDAC4	HGNC	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN	.	UPI000013D541	substitution	HDAC4,protein_altering_variant,p.Leu615del,ENST00000543185,;HDAC4,protein_altering_variant,p.Leu122del,ENST00000430200,;HDAC4,protein_altering_variant,p.Leu1031del,ENST00000345617,;HDAC4,downstream_gene_variant,,ENST00000494800,;	3882-3885	76	89	SUCCESS
ASXL2	55252	.	GRCh37	2	26022316	26022316	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	70	0	ENST00000435504.4:c.341G>A	p.Ser114Asn	p.S114N	ENST00000435504		114	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	.	341	MUTECT|MUSE	.	TGCTGCTGTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	5/13	.	.	.	.	.	.	.	.	COSM184014	5/13	PASS	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.727)	.	tolerated(0.49)	1	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Ser86Asn,ENST00000336112,;ASXL2,missense_variant,p.Ser114Asn,ENST00000435504,;ASXL2,5_prime_UTR_variant,,ENST00000272341,;ASXL2,non_coding_transcript_exon_variant,,ENST00000497092,;	635	70	59	SUCCESS
AFTPH	54812	.	GRCh37	2	64796244	64796244	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	79	0	ENST00000238855.7:c.2106G>T	p.Trp702Cys	p.W702C	ENST00000238855	NM_203437.3	702	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS46303.1	2106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGGACTGA	NONE	.	.	hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156,Pfam_domain:PF15045	.	.	ENSP00000238855	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000238855	Transcript	.	.	ENSG00000119844	25951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	AFTIN_HUMAN	AFTPH	HGNC	.	.	UPI00003E1F8E	SNV	AFTPH,missense_variant,p.Trp702Cys,ENST00000422803,;AFTPH,missense_variant,p.Trp333Cys,ENST00000409183,;AFTPH,missense_variant,p.Trp702Cys,ENST00000409933,;AFTPH,missense_variant,p.Trp702Cys,ENST00000238855,;AFTPH,missense_variant,p.Trp702Cys,ENST00000238856,;AFTPH,intron_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;	2420	79	92	SUCCESS
MBOAT2	129642	.	GRCh37	2	9008614	9008614	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	65	217	1	ENST00000305997.3:c.949T>A	p.Trp317Arg	p.W317R	ENST00000305997	NM_138799.2	317	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS1660.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCAGCGAG	NONE	.	.	Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7	.	.	ENSP00000302177	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000305997	Transcript	.	.	ENSG00000143797	25193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	MBOA2_HUMAN	MBOAT2	HGNC	B0AZU0_HUMAN	.	UPI0000231CFB	SNV	MBOAT2,missense_variant,p.Trp317Arg,ENST00000305997,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,downstream_gene_variant,,ENST00000474341,;MBOAT2,missense_variant,p.Trp122Arg,ENST00000471753,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000494760,;MBOAT2,downstream_gene_variant,,ENST00000477073,;	1148	218	187	SUCCESS
CD200R1	131450	.	GRCh37	3	112693693	112693693	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	79	0	ENST00000471858.1:c.12T>A	p.Pro4=	p.P4=	ENST00000471858	NM_170780.2	4	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2969.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAAGGGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000311035	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000308611	Transcript	.	.	ENSG00000163606	24235	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MO2R1_HUMAN	CD200R1	HGNC	.	.	UPI000013E2BD	SNV	CD200R1,synonymous_variant,p.%3D,ENST00000440122,;CD200R1,synonymous_variant,p.%3D,ENST00000490004,;CD200R1,synonymous_variant,p.%3D,ENST00000295863,;CD200R1,synonymous_variant,p.%3D,ENST00000308611,;CD200R1,synonymous_variant,p.%3D,ENST00000471858,;	277	79	79	SUCCESS
MRPL47	57129	.	GRCh37	3	179311574	179311574	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	71	0	ENST00000476781.1:c.512A>T	p.Asp171Val	p.D171V	ENST00000476781	NM_020409.2	171	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3232.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTCTCTT	NONE	.	.	hmmpanther:PTHR21183,hmmpanther:PTHR21183:SF18	.	.	ENSP00000417602	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000476781	Transcript	.	.	ENSG00000136522	16652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	RM47_HUMAN	MRPL47	HGNC	.	.	UPI000013D022	SNV	MRPL47,missense_variant,p.Asp171Val,ENST00000476781,;MRPL47,missense_variant,p.Asp61Val,ENST00000392659,;MRPL47,missense_variant,p.Asp151Val,ENST00000259038,;	542	71	66	SUCCESS
DYNC1LI1	51143	.	GRCh37	3	32568308	32568308	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	8	126	0	ENST00000273130.4:c.1555G>A	p.Glu519Lys	p.E519K	ENST00000273130	NM_016141.3	519	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2654.1	1555	MUTECT|MUSE	.	TCCTTCCGTAG	NONE	.	.	hmmpanther:PTHR12688:SF2,hmmpanther:PTHR12688	.	.	ENSP00000273130	.	13/13	.	.	.	.	.	.	.	.	COSM378366	13/13	PASS	ENST00000273130	Transcript	.	.	ENSG00000144635	18745	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.995)	.	deleterious(0.01)	1	DC1L1_HUMAN	DYNC1LI1	HGNC	B3KM42_HUMAN	.	UPI000013D99D	SNV	DYNC1LI1,missense_variant,p.Glu519Lys,ENST00000273130,;DYNC1LI1,missense_variant,p.Glu403Lys,ENST00000432458,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000481915,;DYNC1LI1,downstream_gene_variant,,ENST00000472985,;	1659	126	116	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	101	0	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2694.1	1004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAAAACTAC	SITE|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	101	94	SUCCESS
GYPB	2994	.	GRCh37	4	144920597	144920597	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775072021	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	162	394	0	ENST00000502664.1:c.142A>T	p.Thr48Ser	p.T48S	ENST00000502664	NM_002100.4	48	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS54809.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGTTTCTC	NONE	.	.	Pfam_domain:PF01102,hmmpanther:PTHR13813:SF2,hmmpanther:PTHR13813	.	.	ENSP00000427690	.	3/5	.	.	.	.	.	.	.	.	rs775072021	3/5	PASS	ENST00000502664	Transcript	1	.	ENSG00000250361	4703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.37)	.	GLPB_HUMAN	GYPB	HGNC	Q8WTQ3_HUMAN,G8CWY9_HUMAN	.	UPI000016A9BA	SNV	GYPB,missense_variant,p.Thr48Ser,ENST00000429670,;GYPB,missense_variant,p.Thr48Ser,ENST00000283126,;GYPB,missense_variant,p.Thr48Ser,ENST00000502664,;GYPB,missense_variant,p.Thr15Ser,ENST00000513128,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPB,non_coding_transcript_exon_variant,,ENST00000513677,;GYPB,non_coding_transcript_exon_variant,,ENST00000510196,;GYPB,non_coding_transcript_exon_variant,,ENST00000507009,;GYPB,intron_variant,,ENST00000513557,;GYPB,3_prime_UTR_variant,,ENST00000506516,;GYPB,3_prime_UTR_variant,,ENST00000505583,;GYPB,3_prime_UTR_variant,,ENST00000511198,;GYPB,3_prime_UTR_variant,,ENST00000504951,;GYPB,3_prime_UTR_variant,,ENST00000506679,;GYPB,non_coding_transcript_exon_variant,,ENST00000508618,;GYPB,non_coding_transcript_exon_variant,,ENST00000503255,;GYPB,downstream_gene_variant,,ENST00000508841,;	194	394	400	SUCCESS
NR3C2	4306	.	GRCh37	4	149357529	149357529	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1553943244	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	45	0	ENST00000344721.4:c.484A>T	p.Arg162Ter	p.R162*	ENST00000344721		162	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS3772.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCTCAAGG	NONE	.	.	hmmpanther:PTHR24084:SF22,hmmpanther:PTHR24084	.	.	ENSP00000350815	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000358102	Transcript	1	.	ENSG00000151623	7979	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NR3C2	HGNC	Q4W5E8_HUMAN,B0ZBF6_HUMAN	.	UPI000013DC6D	SNV	NR3C2,stop_gained,p.Arg162Ter,ENST00000512865,;NR3C2,stop_gained,p.Arg162Ter,ENST00000358102,;NR3C2,stop_gained,p.Arg162Ter,ENST00000344721,;NR3C2,stop_gained,p.Arg162Ter,ENST00000355292,;NR3C2,stop_gained,p.Arg162Ter,ENST00000511528,;NR3C2,stop_gained,p.Arg162Ter,ENST00000342437,;	847	45	49	SUCCESS
LRBA	987	.	GRCh37	4	151935691	151935691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	61	139	0	ENST00000357115.3:c.104T>C	p.Leu35Pro	p.L35P	ENST00000357115	NM_006726.4	35	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3773.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAGAGAC	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64	.	.	ENSP00000349629	.	2/58	.	.	.	.	.	.	.	.	.	2/58	PASS	ENST00000357115	Transcript	1	.	ENSG00000198589	1742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0)	.	LRBA_HUMAN	LRBA	HGNC	Q7KZN3_HUMAN	.	UPI000013E35C	SNV	LRBA,missense_variant,p.Leu35Pro,ENST00000535741,;LRBA,missense_variant,p.Leu35Pro,ENST00000507224,;LRBA,missense_variant,p.Leu35Pro,ENST00000357115,;LRBA,missense_variant,p.Leu35Pro,ENST00000510413,;LRBA,non_coding_transcript_exon_variant,,ENST00000510841,;LRBA,non_coding_transcript_exon_variant,,ENST00000514435,;	348	139	156	SUCCESS
PDGFC	56034	.	GRCh37	4	157891991	157891991	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766170502	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	82	1	ENST00000502773.1:c.65C>A	p.Ala22Glu	p.A22E	ENST00000502773	NM_016205.2	22	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS3795.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCGCCTGA	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000422464	.	1/6	.	.	.	.	.	.	.	.	rs766170502	1/6	PASS	ENST00000502773	Transcript	.	.	ENSG00000145431	8801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.171)	.	tolerated(0.07)	.	PDGFC_HUMAN	PDGFC	HGNC	.	.	UPI0000034814	SNV	PDGFC,missense_variant,p.Ala22Glu,ENST00000502773,;PDGFC,missense_variant,p.Ala22Glu,ENST00000422544,;PDGFC,5_prime_UTR_variant,,ENST00000541126,;PDGFC,non_coding_transcript_exon_variant,,ENST00000513664,;PDGFC,missense_variant,p.Ala22Glu,ENST00000274071,;RP11-612J15.3,upstream_gene_variant,,ENST00000508378,;	556	83	55	SUCCESS
ACSL1	2180	.	GRCh37	4	185691475	185691475	+	intron_variant	Intron	DEL	G	G	-	rs1249276761	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	55	0	ENST00000281455.2:c.993+78del		p.*331*	ENST00000281455	NM_001995.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3839.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCAAGGGAAG	NONE	.	.	.	.	.	ENSP00000422607	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000515030	Transcript	.	.	ENSG00000151726	3569	.	.	MODIFIER	11/20	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACSL1_HUMAN	ACSL1	HGNC	B7Z3Z9_HUMAN	.	UPI000004AC12	deletion	ACSL1,frameshift_variant,p.Leu310Ter,ENST00000513317,;ACSL1,intron_variant,,ENST00000504900,;ACSL1,intron_variant,,ENST00000504342,;ACSL1,intron_variant,,ENST00000515030,;ACSL1,intron_variant,,ENST00000507295,;ACSL1,intron_variant,,ENST00000437665,;ACSL1,intron_variant,,ENST00000454703,;ACSL1,intron_variant,,ENST00000505492,;ACSL1,intron_variant,,ENST00000281455,;ACSL1,upstream_gene_variant,,ENST00000503407,;ACSL1,intron_variant,,ENST00000506733,;	.	55	81	SUCCESS
MTNR1A	4543	.	GRCh37	4	187454913	187454913	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	10	143	0	ENST00000307161.5:c.983C>A	p.Ala328Asp	p.A328D	ENST00000307161	NM_005958.3	328	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS3848.1	983	MUTECT|MUSE	.	TATCGGCCACG	NONE	.	.	Prints_domain:PR01149	.	.	ENSP00000302811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307161	Transcript	.	.	ENSG00000168412	7463	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.18)	.	MTR1A_HUMAN	MTNR1A	HGNC	.	.	UPI0000050407	SNV	MTNR1A,missense_variant,p.Ala328Asp,ENST00000307161,;RP11-215A19.2,intron_variant,,ENST00000509111,;	1185	143	127	SUCCESS
EVC2	132884	.	GRCh37	4	5642462	5642462	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs778036688	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	84	0	ENST00000344408.5:c.1249A>T	p.Ser417Cys	p.S417C	ENST00000344408	NM_147127.4	417	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS3382.2	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACTGCTGG	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	10/22	.	.	.	.	.	.	.	.	rs778036688	10/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	deleterious(0.01)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Ser417Cys,ENST00000344938,;EVC2,missense_variant,p.Ser337Cys,ENST00000310917,;EVC2,missense_variant,p.Ser417Cys,ENST00000344408,;EVC2,missense_variant,p.Ser337Cys,ENST00000475313,;EVC2,missense_variant,p.Ser337Cys,ENST00000509670,;	1303	84	72	SUCCESS
ALB	213	.	GRCh37	4	74277801	74277801	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs78340021	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	97	0	ENST00000295897.4:c.802G>A	p.Glu268Lys	p.E268K	ENST00000295897	NM_000477.5	268	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3555.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	ACACGGAATGC	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	7/15	.	.	.	.	.	.	.	.	CM050168,rs78340021	7/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	15613718,22174600	probably_damaging(0.973)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Glu268Lys,ENST00000509063,;ALB,missense_variant,p.Glu113Lys,ENST00000511370,;ALB,missense_variant,p.Glu76Lys,ENST00000415165,;ALB,missense_variant,p.Glu268Lys,ENST00000295897,;ALB,missense_variant,p.Glu118Lys,ENST00000503124,;ALB,missense_variant,p.Glu153Lys,ENST00000401494,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	891	97	81	SUCCESS
FRAS1	80144	.	GRCh37	4	79328978	79328978	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371136161	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	61	139	0	ENST00000264895.6:c.4291G>A	p.Asp1431Asn	p.D1431N	ENST00000264895	NM_025074.6	1431	Gac/Aac	0	A:0	.	.	.	.	A	D/N	protein_coding	YES	CCDS54771.1	4291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGACTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	A:0.0002	ENSP00000264895	.	31/74	.	.	.	.	.	.	.	.	rs371136161	31/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.406)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Asp1431Asn,ENST00000325942,;FRAS1,missense_variant,p.Asp1431Asn,ENST00000264895,;	4731	139	173	SUCCESS
PLAC8	51316	.	GRCh37	4	84026085	84026085	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	77	210	0	ENST00000311507.4:c.207A>G	p.Ala69=	p.A69=	ENST00000311507	NM_016619.2	69	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3601.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATTGCGAC	NONE	.	.	hmmpanther:PTHR15907,hmmpanther:PTHR15907:SF32,TIGRFAM_domain:TIGR01571,Pfam_domain:PF04749	.	.	ENSP00000399700	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000426923	Transcript	.	.	ENSG00000145287	19254	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLAC8_HUMAN	PLAC8	HGNC	D6RA24_HUMAN	.	UPI00000472FA	SNV	PLAC8,synonymous_variant,p.%3D,ENST00000411416,;PLAC8,synonymous_variant,p.%3D,ENST00000426923,;PLAC8,synonymous_variant,p.%3D,ENST00000509973,;PLAC8,synonymous_variant,p.%3D,ENST00000311507,;PLAC8,synonymous_variant,p.%3D,ENST00000505406,;PLAC8,intron_variant,,ENST00000515389,;	286	210	201	SUCCESS
WDFY3	23001	.	GRCh37	4	85781608	85781608	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	89	0	ENST00000295888.4:c.137A>T	p.Glu46Val	p.E46V	ENST00000295888	NM_014991.4	46	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3609.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTCCTTC	NONE	.	.	hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	4/68	.	.	.	.	.	.	.	.	.	4/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	deleterious(0)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Glu46Val,ENST00000295888,;WDFY3,missense_variant,p.Glu46Val,ENST00000322366,;WDFY3,missense_variant,p.Glu46Val,ENST00000509172,;WDFY3,downstream_gene_variant,,ENST00000502713,;WDFY3,non_coding_transcript_exon_variant,,ENST00000426414,;WDFY3,non_coding_transcript_exon_variant,,ENST00000504990,;	545	89	98	SUCCESS
PDHA2	5161	.	GRCh37	4	96761618	96761618	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	55	130	1	ENST00000295266.4:c.317T>A	p.Ile106Lys	p.I106K	ENST00000295266	NM_005390.4	106	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS3644.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCATAAACC	BUFFER|p.S109L|c.326C>T|3	.	.	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	tolerated(0.05)	.	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,missense_variant,p.Ile106Lys,ENST00000295266,;	380	131	136	SUCCESS
PDHA2	5161	.	GRCh37	4	96761619	96761619	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	57	129	1	ENST00000295266.4:c.318A>T	p.Ile106=	p.I106=	ENST00000295266	NM_005390.4	106	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3644.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATAAACCC	BUFFER|p.S109L|c.326C>T|3	.	.	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,synonymous_variant,p.%3D,ENST00000295266,;	381	131	138	SUCCESS
MCC	4163	.	GRCh37	5	112364597	112364597	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	46	0	ENST00000302475.4:c.2309+34C>G		p.*770*	ENST00000302475	NM_002387.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGGGCGG	NONE	.	.	.	.	.	ENSP00000386227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODIFIER	18/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,intron_variant,,ENST00000302475,;MCC,intron_variant,,ENST00000515367,;MCC,intron_variant,,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	.	46	61	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128994333	128994333	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	72	0	ENST00000274487.4:c.2310A>C	p.Leu770Phe	p.L770F	ENST00000274487	NM_133638.3	770	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS4146.1	2310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTAGGGTC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Prints_domain:PR01857	.	.	ENSP00000274487	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0.03)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Leu770Phe,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	2455	72	68	SUCCESS
TRIO	7204	.	GRCh37	5	14368980	14368980	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	54	158	1	ENST00000344204.4:c.3038C>G	p.Ser1013Cys	p.S1013C	ENST00000344204	NM_007118.2	1013	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS3883.1	3038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCTGTCG	NONE	.	.	hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826	.	.	ENSP00000339299	.	17/57	.	.	.	.	.	.	.	.	.	17/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,missense_variant,p.Ser1013Cys,ENST00000537187,;TRIO,missense_variant,p.Ser964Cys,ENST00000509967,;TRIO,missense_variant,p.Ser1013Cys,ENST00000344204,;TRIO,missense_variant,p.Ser746Cys,ENST00000513206,;TRIO,missense_variant,p.Ser954Cys,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;	3062	159	146	SUCCESS
SH3TC2	79628	.	GRCh37	5	148406144	148406144	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1209299386	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	115	0	ENST00000515425.1:c.3044A>G	p.Asn1015Ser	p.N1015S	ENST00000515425	NM_024577.3	1015	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS4293.1	3044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTATTTAGG	NONE	.	.	hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.11)	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,missense_variant,p.Asn1015Ser,ENST00000515425,;SH3TC2,missense_variant,p.Asn562Ser,ENST00000538184,;SH3TC2,missense_variant,p.Asn1008Ser,ENST00000512049,;SH3TC2,3_prime_UTR_variant,,ENST00000394358,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,missense_variant,p.Asn1015Ser,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	3146	115	100	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	169691	169691	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145985070	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	50	0	ENST00000283426.6:c.2645G>A	p.Arg882His	p.R882H	ENST00000283426	NM_052909.3	882	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS34124.1	2645	MUTECT|MUSE	.	GGGCCGCAGTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	A:0.0003	ENSP00000283426	.	12/18	.	.	.	.	.	.	.	.	rs145985070	12/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.218)	.	tolerated(0.88)	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,missense_variant,p.Arg882His,ENST00000283426,;PLEKHG4B,non_coding_transcript_exon_variant,,ENST00000504041,;	2695	50	51	SUCCESS
BASP1	10409	.	GRCh37	5	17275577	17275577	+	synonymous_variant	Silent	SNP	G	G	A	rs1363945940	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	97	0	ENST00000322611.3:c.252G>A	p.Lys84=	p.K84=	ENST00000322611	NM_006317.4	84	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3888.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAAGGCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,synonymous_variant,p.%3D,ENST00000322611,;BASP1,downstream_gene_variant,,ENST00000606445,;	512	97	100	SUCCESS
HCN1	348980	.	GRCh37	5	45303784	45303785	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	104	0	ENST00000303230.4:c.1534dup	p.Met512AsnfsTer17	p.M512Nfs*17	ENST00000303230	NM_021072.3	512	atg/aAtg	0	.	.	.	.	.	T	M/NX	protein_coding	YES	CCDS3952.1	1534-1535	INDELOCATOR|VARSCANI	.	AATACATTTTT	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Pfam_domain:PF00027,Gene3D:2.60.120.10,PROSITE_patterns:PS00888,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217,PROSITE_profiles:PS50042	.	.	ENSP00000307342	.	6/8	.	.	.	.	.	.	.	.	COSM273779	6/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	insertion	HCN1,frameshift_variant,p.Met512AsnfsTer17,ENST00000303230,;	1592-1593	104	120	SUCCESS
LAMA2	3908	.	GRCh37	6	129813106	129813106	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	38	104	0	ENST00000421865.2:c.7959G>A	p.Gln2653=	p.Q2653=	ENST00000421865	NM_001079823.1	2653	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS5138.1	7959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGCCTAT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Pfam_domain:PF00054,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000400365	.	57/65	.	.	.	.	.	.	.	.	.	57/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,synonymous_variant,p.%3D,ENST00000421865,;LAMA2,non_coding_transcript_exon_variant,,ENST00000498257,;LAMA2,non_coding_transcript_exon_variant,,ENST00000494137,;	8008	104	105	SUCCESS
HIVEP2	3097	.	GRCh37	6	143074350	143074350	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	126	1	ENST00000012134.2:c.7235A>T	p.Lys2412Met	p.K2412M	ENST00000012134		2412	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS43510.1	7235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCTTGCTG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53	.	.	ENSP00000356575	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367603	Transcript	.	.	ENSG00000010818	4921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	deleterious_low_confidence(0)	.	ZEP2_HUMAN	HIVEP2	HGNC	B4DKE9_HUMAN	.	UPI00004708DD	SNV	HIVEP2,missense_variant,p.Lys2412Met,ENST00000367603,;HIVEP2,missense_variant,p.Lys2412Met,ENST00000012134,;HIVEP2,missense_variant,p.Lys2412Met,ENST00000367604,;RP1-67K17.3,intron_variant,,ENST00000437067,;	7978	127	101	SUCCESS
RPS10-NUDT3	100529239	.	GRCh37	6	34309645	34309645	+	synonymous_variant	Silent	SNP	A	A	G	rs755950243	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	59	0	ENST00000605528.1:c.561T>C	p.Cys187=	p.C187=	ENST00000605528	NM_001202470.2	187	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS4791.1	204	MUTECT|MUSE	.	TCCTCACAGAC	NONE	byFrequency	.	Superfamily_domains:SSF55811,Pfam_domain:PF00293,Gene3D:3.90.79.10,PROSITE_patterns:PS00893,hmmpanther:PTHR12629:SF5,hmmpanther:PTHR12629,PROSITE_profiles:PS51462	.	.	ENSP00000476119	.	2/5	.	.	.	.	.	.	.	.	rs755950243	2/5	PASS	ENST00000607016	Transcript	.	.	ENSG00000272325	8050	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUDT3_HUMAN	NUDT3	HGNC	.	.	UPI00000465B8	SNV	NUDT3,synonymous_variant,p.%3D,ENST00000607016,;RPS10-NUDT3,synonymous_variant,p.%3D,ENST00000605528,;	516	59	65	SUCCESS
PNPLA1	285848	.	GRCh37	6	36269664	36269664	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	70	0	ENST00000394571.2:c.802A>T	p.Lys268Ter	p.K268*	ENST00000394571	NM_001145717.1	268	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS54997.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAAGAGA	NONE	.	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23,Superfamily_domains:SSF52151	.	.	ENSP00000378072	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000394571	Transcript	.	.	ENSG00000180316	21246	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL1_HUMAN	PNPLA1	HGNC	B8XXQ3_HUMAN	.	UPI000189560E	SNV	PNPLA1,stop_gained,p.Lys268Ter,ENST00000394571,;PNPLA1,stop_gained,p.Lys182Ter,ENST00000312917,;PNPLA1,stop_gained,p.Lys269Ter,ENST00000457797,;PNPLA1,stop_gained,p.Lys173Ter,ENST00000388715,;	802	70	75	SUCCESS
FAM135A	57579	.	GRCh37	6	71185406	71185406	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	121	0	ENST00000370479.3:c.209T>A	p.Leu70Ter	p.L70*	ENST00000370479		70	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS55028.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTTGGATC	NONE	.	.	Pfam_domain:PF12394,hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF12	.	.	ENSP00000410768	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000418814	Transcript	.	.	ENSG00000082269	21084	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F135A_HUMAN	FAM135A	HGNC	D6RFG9_HUMAN,D6REA8_HUMAN,D6RC17_HUMAN	.	UPI000004A0FF	SNV	FAM135A,stop_gained,p.Leu70Ter,ENST00000457062,;FAM135A,stop_gained,p.Leu113Ter,ENST00000505868,;FAM135A,stop_gained,p.Leu113Ter,ENST00000361499,;FAM135A,stop_gained,p.Leu113Ter,ENST00000505769,;FAM135A,stop_gained,p.Leu113Ter,ENST00000418814,;FAM135A,stop_gained,p.Leu70Ter,ENST00000370479,;FAM135A,stop_gained,p.Leu113Ter,ENST00000515323,;FAM135A,stop_gained,p.Leu113Ter,ENST00000194672,;FAM135A,non_coding_transcript_exon_variant,,ENST00000393299,;	952	121	98	SUCCESS
EEF1A1	1915	.	GRCh37	6	74228303	74228303	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	83	231	0	ENST00000309268.6:c.803A>T	p.Glu268Val	p.E268V	ENST00000309268		268	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4980.1	803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTCCACT	NONE	.	.	Superfamily_domains:SSF50447,TIGRFAM_domain:TIGR00483,Gene3D:2.40.30.10,Pfam_domain:PF03144,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Glu268Val,ENST00000309268,;EEF1A1,missense_variant,p.Glu268Val,ENST00000316292,;EEF1A1,missense_variant,p.Glu268Val,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	1795	232	248	SUCCESS
PHIP	55023	.	GRCh37	6	79679863	79679863	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	70	0	ENST00000275034.4:c.3025A>G	p.Ile1009Val	p.I1009V	ENST00000275034	NM_017934.5	1009	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS4987.1	3025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATGCCAA	NONE	.	.	hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	.	.	ENSP00000275034	.	26/40	.	.	.	.	.	.	.	.	.	26/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0.02)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Ile1009Val,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	3193	70	57	SUCCESS
FBXL4	26235	.	GRCh37	6	99353398	99353398	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1331125714	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	126	0	ENST00000229971.1:c.1007C>T	p.Ser336Phe	p.S336F	ENST00000229971	NM_012160.4	336	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS5041.1	1007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGAAGTG	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.653)	.	tolerated(0.08)	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,missense_variant,p.Ser336Phe,ENST00000229971,;FBXL4,missense_variant,p.Ser336Phe,ENST00000369244,;	1436	126	104	SUCCESS
AKR1D1	6718	.	GRCh37	7	137761312	137761312	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	81	0	ENST00000242375.3:c.48C>A	p.Asn16Lys	p.N16K	ENST00000242375	NM_005989.3	16	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS5846.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACAGCAT	NONE	.	.	hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	.	.	ENSP00000242375	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000242375	Transcript	.	.	ENSG00000122787	388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.508)	.	deleterious(0.01)	.	AK1D1_HUMAN	AKR1D1	HGNC	C4PL35_HUMAN	.	UPI0000125764	SNV	AKR1D1,missense_variant,p.Asn16Lys,ENST00000438242,;AKR1D1,missense_variant,p.Asn16Lys,ENST00000432161,;AKR1D1,missense_variant,p.Asn16Lys,ENST00000411726,;AKR1D1,missense_variant,p.Asn16Lys,ENST00000242375,;AKR1D1,intron_variant,,ENST00000468877,;	90	81	87	SUCCESS
SSPO	0	.	GRCh37	7	149493829	149493829	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	73	0	ENST00000378016.2:n.6825T>A		p.*2275*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACTGGCAG	NONE	.	.	.	.	.	.	.	45/109	.	.	.	.	.	.	.	.	.	45/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000472797,;SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,downstream_gene_variant,,ENST00000262089,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	6825	73	63	SUCCESS
HDAC9	9734	.	GRCh37	7	18706241	18706241	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	15	0	ENST00000432645.2:c.1722+142A>T		p.*574*	ENST00000432645	NM_058176.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47553.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTACCTAA	NONE	.	.	.	.	.	ENSP00000408617	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODIFIER	11/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,3_prime_UTR_variant,,ENST00000405010,;HDAC9,3_prime_UTR_variant,,ENST00000428307,;HDAC9,3_prime_UTR_variant,,ENST00000417496,;HDAC9,3_prime_UTR_variant,,ENST00000406072,;HDAC9,3_prime_UTR_variant,,ENST00000456174,;HDAC9,3_prime_UTR_variant,,ENST00000524023,;HDAC9,intron_variant,,ENST00000401921,;HDAC9,intron_variant,,ENST00000441542,;HDAC9,intron_variant,,ENST00000406451,;HDAC9,intron_variant,,ENST00000432645,;HDAC9,intron_variant,,ENST00000461159,;HDAC9,intron_variant,,ENST00000523867,;	.	15	23	SUCCESS
ABCB5	340273	.	GRCh37	7	20698723	20698723	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	67	0	ENST00000404938.2:c.1707+424C>A		p.*569*	ENST00000404938	NM_001163941.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55090.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACCTCAA	NONE	.	.	.	.	.	ENSP00000384881	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODIFIER	14/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,3_prime_UTR_variant,,ENST00000443026,;ABCB5,intron_variant,,ENST00000258738,;ABCB5,intron_variant,,ENST00000404938,;ABCB5,intron_variant,,ENST00000406935,;	.	67	71	SUCCESS
SNX8	29886	.	GRCh37	7	2309216	2309216	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1300724825	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	35	0	ENST00000222990.3:c.599G>A	p.Cys200Tyr	p.C200Y	ENST00000222990	NM_013321.2	200	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS5331.1	599	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTTACAGTTC	NONE	.	.	hmmpanther:PTHR10555:SF15,hmmpanther:PTHR10555	.	.	ENSP00000222990	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000222990	Transcript	.	.	ENSG00000106266	14972	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.707)	.	tolerated(0.05)	.	SNX8_HUMAN	SNX8	HGNC	C9JCB9_HUMAN,C9J8E6_HUMAN,C9J014_HUMAN,C9IYC5_HUMAN	.	UPI0000135B46	SNV	SNX8,missense_variant,p.Cys147Tyr,ENST00000435336,;SNX8,missense_variant,p.Cys147Tyr,ENST00000457286,;SNX8,missense_variant,p.Cys186Tyr,ENST00000435060,;SNX8,missense_variant,p.Cys200Tyr,ENST00000222990,;SNX8,non_coding_transcript_exon_variant,,ENST00000479689,;	642	35	35	SUCCESS
TNRC18	84629	.	GRCh37	7	5385411	5385411	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	52	0	ENST00000430969.1:c.5501A>T	p.Glu1834Val	p.E1834V	ENST00000430969	NM_001080495.2	1834	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS47534.1	5501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.182)	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,missense_variant,p.Glu1834Val,ENST00000430969,;TNRC18,missense_variant,p.Glu1834Val,ENST00000399537,;	5850	52	56	SUCCESS
CCT6A	908	.	GRCh37	7	56125786	56125786	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	64	0	ENST00000275603.4:c.715T>C	p.Tyr239His	p.Y239H	ENST00000275603	NM_001762.3	239	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS5523.1	715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGTATGAG	NONE	.	.	Superfamily_domains:SSF52029,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02347,Pfam_domain:PF00118,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353	.	.	ENSP00000275603	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000275603	Transcript	.	.	ENSG00000146731	1620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	TCPZ_HUMAN	CCT6A	HGNC	.	.	UPI0000136B11	SNV	CCT6A,missense_variant,p.Tyr208His,ENST00000540286,;CCT6A,missense_variant,p.Tyr239His,ENST00000275603,;CCT6A,missense_variant,p.Tyr194His,ENST00000335503,;SNORA22,downstream_gene_variant,,ENST00000383876,;SNORA15,upstream_gene_variant,,ENST00000384439,;CCT6A,upstream_gene_variant,,ENST00000462133,;CCT6A,non_coding_transcript_exon_variant,,ENST00000482776,;CCT6A,downstream_gene_variant,,ENST00000493855,;CCT6A,upstream_gene_variant,,ENST00000466572,;CCT6A,upstream_gene_variant,,ENST00000494736,;CCT6A,upstream_gene_variant,,ENST00000466479,;CCT6A,upstream_gene_variant,,ENST00000492618,;	934	64	77	SUCCESS
WBSCR17	0	.	GRCh37	7	71130560	71130560	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	72	0	ENST00000333538.5:c.1245A>T	p.Ile415=	p.I415=	ENST00000333538	NM_022479.2	415	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS5540.1	1245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATAGCGTG	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448	.	.	ENSP00000329654	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,synonymous_variant,p.%3D,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	1879	72	60	SUCCESS
SEMA3E	9723	.	GRCh37	7	83032013	83032013	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	48	108	1	ENST00000307792.3:c.1078A>T	p.Lys360Ter	p.K360*	ENST00000307792	NM_012431.2	360	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS34674.1	1078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTATGTG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000303212	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,stop_gained,p.Lys300Ter,ENST00000427262,;SEMA3E,stop_gained,p.Lys360Ter,ENST00000307792,;	1546	109	123	SUCCESS
FER1L6	654463	.	GRCh37	8	125022837	125022837	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	80	1	ENST00000399018.1:c.1704T>C	p.Asn568=	p.N568=	ENST00000399018		568	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS43767.1	1704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATTACAA	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	14/41	.	.	.	.	.	.	.	.	.	14/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,synonymous_variant,p.%3D,ENST00000522917,;FER1L6,synonymous_variant,p.%3D,ENST00000399018,;FER1L6-AS1,intron_variant,,ENST00000518567,;	1910	81	74	SUCCESS
BAG4	9530	.	GRCh37	8	38065143	38065143	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	102	0	ENST00000287322.4:c.492T>C	p.Ser164=	p.S164=	ENST00000287322	NM_004874.3	164	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6104.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTTACTC	NONE	.	.	hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329	.	.	ENSP00000287322	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000287322	Transcript	.	.	ENSG00000156735	940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAG4_HUMAN	BAG4	HGNC	.	.	UPI0000126769	SNV	BAG4,synonymous_variant,p.%3D,ENST00000287322,;BAG4,synonymous_variant,p.%3D,ENST00000521311,;BAG4,synonymous_variant,p.%3D,ENST00000432471,;BAG4,non_coding_transcript_exon_variant,,ENST00000521282,;RP11-90P5.1,upstream_gene_variant,,ENST00000503480,;	763	102	84	SUCCESS
PXDNL	137902	.	GRCh37	8	52323892	52323892	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	51	107	0	ENST00000356297.4:c.1980A>C	p.Arg660Ser	p.R660S	ENST00000356297	NM_144651.4	660	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS47855.1	1980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTCTTGC	NONE	.	.	hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475	.	.	ENSP00000348645	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.53)	.	deleterious(0.03)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Arg660Ser,ENST00000543296,;PXDNL,missense_variant,p.Arg660Ser,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	2081	107	110	SUCCESS
CYP7A1	1581	.	GRCh37	8	59409615	59409615	+	synonymous_variant	Silent	SNP	G	G	A	rs778586439	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	18	0	ENST00000301645.3:c.456C>T	p.Ile152=	p.I152=	ENST00000301645	NM_000780.3	152	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS6171.1	456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGATACG	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF1,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500625,Superfamily_domains:SSF48264	.	.	ENSP00000301645	.	3/6	.	.	.	.	.	.	.	.	rs778586439	3/6	PASS	ENST00000301645	Transcript	1	.	ENSG00000167910	2651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP7A1_HUMAN	CYP7A1	HGNC	.	.	UPI0000128214	SNV	CYP7A1,synonymous_variant,p.%3D,ENST00000301645,;	594	18	22	SUCCESS
DEFB106B	503841	.	GRCh37	8	7340185	7340185	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs770781935	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	71	133	0	ENST00000335479.2:c.139T>A	p.Cys47Ser	p.C47S	ENST00000335479	NM_001040704.1	47	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS34813.1	139	RADIA|SOMATICSNIPER|VARSCANS	.	CTGGCAGAGAG	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF10,Pfam_domain:PF13841	.	.	ENSP00000334364	.	2/2	.	.	.	.	.	.	.	.	rs770781935	2/2	PASS	ENST00000335479	Transcript	.	.	ENSG00000187082	28879	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	D106A_HUMAN	DEFB106B	HGNC	.	.	UPI0000128D8F	SNV	DEFB106B,missense_variant,p.Cys47Ser,ENST00000335479,;	157	133	131	SUCCESS
KCNS2	3788	.	GRCh37	8	99440918	99440918	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	121	0	ENST00000287042.4:c.711G>A	p.Trp237Ter	p.W237*	ENST00000287042	NM_020697.2	237	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS6279.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGTTCAC	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60	.	.	ENSP00000287042	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000287042	Transcript	.	.	ENSG00000156486	6301	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNS2_HUMAN	KCNS2	HGNC	.	.	UPI0000001653	SNV	KCNS2,stop_gained,p.Trp237Ter,ENST00000287042,;KCNS2,stop_gained,p.Trp237Ter,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	1061	122	93	SUCCESS
RAD23B	5887	.	GRCh37	9	110081131	110081131	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	21	76	0	ENST00000358015.3:c.652C>G	p.Pro218Ala	p.P218A	ENST00000358015	NM_002874.4	218	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS6769.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACCCTGAC	NONE	.	.	PROSITE_profiles:PS50030,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF2,Pfam_domain:PF00627,Gene3D:1.10.8.10,TIGRFAM_domain:TIGR00601,SMART_domains:SM00165,Superfamily_domains:SSF46934	.	.	ENSP00000350708	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000358015	Transcript	.	.	ENSG00000119318	9813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	RD23B_HUMAN	RAD23B	HGNC	Q5W0S5_HUMAN	.	UPI0000132F6C	SNV	RAD23B,missense_variant,p.Pro218Ala,ENST00000358015,;RAD23B,missense_variant,p.Pro146Ala,ENST00000416373,;RAD23B,missense_variant,p.Pro88Ala,ENST00000457811,;	1003	76	86	SUCCESS
DFNB31	0	.	GRCh37	9	117168876	117168876	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	64	1	ENST00000362057.3:c.1995G>T	p.Leu665=	p.L665=	ENST00000362057	NM_001173425.1	665	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6806.1	1995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTCCAGCGG	NONE	.	.	hmmpanther:PTHR23116:SF31,hmmpanther:PTHR23116	.	.	ENSP00000354623	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000362057	Transcript	.	.	ENSG00000095397	16361	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WHRN_HUMAN	DFNB31	HGNC	.	.	UPI00001C1EA6	SNV	DFNB31,synonymous_variant,p.%3D,ENST00000362057,;DFNB31,synonymous_variant,p.%3D,ENST00000265134,;DFNB31,synonymous_variant,p.%3D,ENST00000374059,;	2164	65	64	SUCCESS
ENTPD2	954	.	GRCh37	9	139943427	139943427	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	92	0	ENST00000355097.2:c.1250A>T	p.Glu417Val	p.E417V	ENST00000355097	NM_001246.3	417	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7026.1	1250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCTCGTCG	BUFFER|p.D416D|c.1248C>T|11	.	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF33,Pfam_domain:PF01150	.	.	ENSP00000347213	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000355097	Transcript	.	.	ENSG00000054179	3364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	deleterious(0.01)	.	ENTP2_HUMAN	ENTPD2	HGNC	Q5SPY7_HUMAN	.	UPI0000001C45	SNV	ENTPD2,missense_variant,p.Glu394Val,ENST00000312665,;ENTPD2,missense_variant,p.Glu417Val,ENST00000355097,;NPDC1,upstream_gene_variant,,ENST00000371601,;NPDC1,upstream_gene_variant,,ENST00000371600,;RP11-229P13.15,upstream_gene_variant,,ENST00000439076,;ENTPD2,non_coding_transcript_exon_variant,,ENST00000460614,;NPDC1,upstream_gene_variant,,ENST00000485589,;ENTPD2,downstream_gene_variant,,ENST00000469106,;NPDC1,upstream_gene_variant,,ENST00000488145,;	1298	92	83	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971035	21971035	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	38	120	0	ENST00000304494.5:c.323A>G	p.Asp108Gly	p.D108G	ENST00000304494	NM_000077.4	108	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS56565.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATCGCGC	CODON|p.0?|c.1_471del471|15,CODON|p.D108Y|c.322G>T|4,CODON|p.D108H|c.322G>C|7,CODON|p.D108N|c.322G>A|5,CODON|p.D108Y|c.322G>T|14,BUFFER|p.R112G|c.334C>G|3,BUFFER|p.G166R|c.496G>A|10,BUFFER|p.W110*|c.330G>A|9,BUFFER|p.W110*|c.330G>A|42,BUFFER|p.W110*|c.330G>A|11,BUFFER|p.L165L|c.495G>A|5,BUFFER|p.W110*|c.329G>A|13,BUFFER|p.W110*|c.329G>A|4,BUFFER|p.W110*|c.329G>A|6	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	2/4	.	.	.	.	.	.	.	.	COSM753741,COSM753739,COSM753740,COSM1638187	2/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,missense_variant,p.Asp57Gly,ENST00000578845,;CDKN2A,missense_variant,p.Asp57Gly,ENST00000494262,;CDKN2A,missense_variant,p.Asp57Gly,ENST00000498628,;CDKN2A,missense_variant,p.Asp108Gly,ENST00000446177,;CDKN2A,missense_variant,p.Asp108Gly,ENST00000304494,;CDKN2A,missense_variant,p.Asp108Gly,ENST00000498124,;CDKN2A,missense_variant,p.Asp57Gly,ENST00000479692,;CDKN2A,missense_variant,p.Asp108Gly,ENST00000579122,;CDKN2A,missense_variant,p.Asp57Gly,ENST00000497750,;CDKN2A,synonymous_variant,p.%3D,ENST00000579755,;CDKN2A,synonymous_variant,p.%3D,ENST00000530628,;CDKN2A,synonymous_variant,p.%3D,ENST00000361570,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	362	120	116	SUCCESS
VLDLR	7436	.	GRCh37	9	2643403	2643403	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767529669	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	80	0	ENST00000382100.3:c.692G>A	p.Arg231His	p.R231H	ENST00000382100	NM_003383.3	231	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6446.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGTCAGC	NONE	byFrequency	.	SMART_domains:SM00192,hmmpanther:PTHR10529:SF101,hmmpanther:PTHR10529	.	.	ENSP00000371532	.	5/19	.	.	.	.	.	.	.	.	rs767529669,COSM455787	5/19	PASS	ENST00000382100	Transcript	.	.	ENSG00000147852	12698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.14)	0,1	VLDLR_HUMAN	VLDLR	HGNC	.	.	UPI0000055935	SNV	VLDLR,missense_variant,p.Arg231His,ENST00000382100,;VLDLR,missense_variant,p.Arg231His,ENST00000382099,;VLDLR,downstream_gene_variant,,ENST00000382096,;RP11-125B21.2,upstream_gene_variant,,ENST00000599229,;VLDLR,upstream_gene_variant,,ENST00000478776,;	1048	80	77	SUCCESS
CREB3	10488	.	GRCh37	9	35736083	35736083	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	75	0	ENST00000353704.2:c.650T>C	p.Val217Ala	p.V217A	ENST00000353704	NM_006368.4	217	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6588.1	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTGATTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF100	.	.	ENSP00000342136	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000353704	Transcript	.	.	ENSG00000107175	2347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	deleterious(0.03)	.	CREB3_HUMAN	CREB3	HGNC	B4DSK1_HUMAN	.	UPI0000073728	SNV	CREB3,missense_variant,p.Val217Ala,ENST00000353704,;GBA2,downstream_gene_variant,,ENST00000378088,;GBA2,downstream_gene_variant,,ENST00000378094,;TLN1,upstream_gene_variant,,ENST00000540444,;TLN1,upstream_gene_variant,,ENST00000314888,;GBA2,downstream_gene_variant,,ENST00000378103,;GBA2,downstream_gene_variant,,ENST00000545786,;CREB3,non_coding_transcript_exon_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000486797,;GBA2,downstream_gene_variant,,ENST00000467252,;GBA2,downstream_gene_variant,,ENST00000488292,;TLN1,upstream_gene_variant,,ENST00000378192,;	1088	75	74	SUCCESS
PRUNE2	158471	.	GRCh37	9	79321952	79321952	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	110	1	ENST00000376718.3:c.5238A>T	p.Pro1746=	p.P1746=	ENST00000376718	NM_015225.2	1746	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47982.1	5238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTGGCTC	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,synonymous_variant,p.%3D,ENST00000426088,;PRUNE2,synonymous_variant,p.%3D,ENST00000376718,;PRUNE2,synonymous_variant,p.%3D,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	5362	112	91	SUCCESS
PRUNE2	158471	.	GRCh37	9	79325451	79325451	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766815113	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	98	0	ENST00000376718.3:c.1739A>T	p.Asn580Ile	p.N580I	ENST00000376718	NM_015225.2	580	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS47982.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTTATCT	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	rs766815113	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.48)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Asn580Ile,ENST00000376718,;PRUNE2,missense_variant,p.Asn221Ile,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000426088,;	1863	98	67	SUCCESS
RAB33A	9363	.	GRCh37	X	129318331	129318331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	45	79	0	ENST00000257017.4:c.331C>A	p.His111Asn	p.H111N	ENST00000257017	NM_004794.2	111	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS14621.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTACATGCC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF326,hmmpanther:PTHR24073,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000257017	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000257017	Transcript	.	.	ENSG00000134594	9773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.21)	.	RB33A_HUMAN	RAB33A	HGNC	.	.	UPI000000126B	SNV	RAB33A,missense_variant,p.His111Asn,ENST00000257017,;	745	79	56	SUCCESS
HUWE1	10075	.	GRCh37	X	53561499	53561499	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	51	70	0	ENST00000262854.6:c.12809A>T	p.Lys4270Met	p.K4270M	ENST00000262854	NM_031407.5	4270	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS35301.1	12809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTTGTGG	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000340648	.	81/83	.	.	.	.	.	.	.	.	.	81/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Lys4270Met,ENST00000342160,;HUWE1,missense_variant,p.Lys4270Met,ENST00000262854,;HUWE1,missense_variant,p.Lys3304Met,ENST00000427052,;HUWE1,missense_variant,p.Lys1093Met,ENST00000426907,;HUWE1,non_coding_transcript_exon_variant,,ENST00000488459,;HUWE1,downstream_gene_variant,,ENST00000474971,;HUWE1,downstream_gene_variant,,ENST00000480438,;	13267	70	74	SUCCESS
GJB1	2705	.	GRCh37	X	70443636	70443637	+	inframe_insertion	In_Frame_Ins	INS	-	-	TCATCT	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	47	0	ENST00000361726.6:c.89_94dup	p.Ile30_Phe31dup	p.I30_F31dup	ENST00000361726	NM_000166.5	30	gtc/gTCATCTtc	0	.	.	.	.	.	TCATCT	V/VIF	protein_coding	YES	CCDS14408.1	79-80	INDELOCATOR|VARSCANI	.	TCTCGGTCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF20,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206	.	.	ENSP00000363134	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374022	Transcript	.	.	ENSG00000169562	4283	15	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXB1_HUMAN	GJB1	HGNC	C9JWU8_HUMAN	.	UPI0000001C7E	insertion	GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000447581,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000361726,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000374029,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000374022,;	174-175	47	42	SUCCESS
BTRC	8945	.	GRCh37	10	103296339	103296339	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	90	0	ENST00000370187.3:c.1506A>T	p.Leu502Phe	p.L502F	ENST00000370187	NM_033637.3	502	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7512.1	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTAGAAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000359206	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000370187	Transcript	1	.	ENSG00000166167	1144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0)	.	FBW1A_HUMAN	BTRC	HGNC	Q5T1W7_HUMAN	.	UPI00000012B5	SNV	BTRC,missense_variant,p.Leu466Phe,ENST00000408038,;BTRC,missense_variant,p.Leu502Phe,ENST00000370187,;BTRC,missense_variant,p.Leu461Phe,ENST00000393441,;BTRC,non_coding_transcript_exon_variant,,ENST00000493877,;	1624	90	103	SUCCESS
SORCS3	22986	.	GRCh37	10	106937655	106937655	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs140440656	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	22	0	ENST00000369699.4:c.-303T>A		p.*101*	ENST00000369699				0	.	C:0.0038	.	C:0	.	A	.	protein_coding	YES	CCDS7558.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTTGATCA	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000358715	C:0	.	.	.	.	.	.	.	.	.	rs140440656	.	PASS	ENST00000369701	Transcript	.	C:0.0010	ENSG00000156395	16699	.	.	MODIFIER	13/26	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,5_prime_UTR_variant,,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;SORCS3,intron_variant,,ENST00000369701,;	.	22	29	SUCCESS
FAM204A	63877	.	GRCh37	10	120070409	120070409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	35	0	ENST00000369172.4:c.662A>G	p.Lys221Arg	p.K221R	ENST00000369172	NM_001134672.1	221	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS7605.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTTGCT	NONE	.	.	hmmpanther:PTHR14386:SF1,hmmpanther:PTHR14386	.	.	ENSP00000358183	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000369183	Transcript	.	.	ENSG00000165669	25794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	deleterious(0.02)	.	F204A_HUMAN	FAM204A	HGNC	Q5T374_HUMAN	.	UPI0000073C7E	SNV	FAM204A,missense_variant,p.Lys221Arg,ENST00000369183,;FAM204A,missense_variant,p.Lys221Arg,ENST00000369172,;FAM204A,non_coding_transcript_exon_variant,,ENST00000491416,;FAM204A,non_coding_transcript_exon_variant,,ENST00000469758,;FAM204A,upstream_gene_variant,,ENST00000452252,;FAM204A,3_prime_UTR_variant,,ENST00000470476,;FAM204A,non_coding_transcript_exon_variant,,ENST00000467890,;	922	35	51	SUCCESS
RGS10	6001	.	GRCh37	10	121275042	121275042	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	33	113	0	ENST00000369101.3:c.354G>A	p.Met118Ile	p.M118I	ENST00000369101		118	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31294.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACATCAG	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000358099	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000369103	Transcript	.	.	ENSG00000148908	9992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.13)	.	RGS10_HUMAN	RGS10	HGNC	.	.	UPI0000038DD4	SNV	RGS10,missense_variant,p.Met118Ile,ENST00000369101,;RGS10,missense_variant,p.Met112Ile,ENST00000392865,;RGS10,missense_variant,p.Met126Ile,ENST00000369103,;RGS10,non_coding_transcript_exon_variant,,ENST00000473563,;RGS10,intron_variant,,ENST00000469575,;	448	113	141	SUCCESS
WDR11	55717	.	GRCh37	10	122650234	122650234	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	75	0	ENST00000263461.6:c.2350A>C	p.Met784Leu	p.M784L	ENST00000263461	NM_018117.11	784	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS7619.1	2350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGATGGTG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR14593	.	.	ENSP00000263461	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000263461	Transcript	1	.	ENSG00000120008	13831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.4)	.	WDR11_HUMAN	WDR11	HGNC	S4R3Z0_HUMAN,Q9NWV7_HUMAN,Q659C9_HUMAN	.	UPI0000138ED1	SNV	WDR11,missense_variant,p.Met784Leu,ENST00000263461,;WDR11,intron_variant,,ENST00000478567,;WDR11,intron_variant,,ENST00000604509,;WDR11,downstream_gene_variant,,ENST00000605376,;WDR11,3_prime_UTR_variant,,ENST00000605543,;WDR11,3_prime_UTR_variant,,ENST00000497136,;	2596	75	87	SUCCESS
CUZD1	50624	.	GRCh37	10	124591968	124591968	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	56	0	ENST00000368904.1:c.1652-2A>T		p.X551_splice	ENST00000368904		551		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7631.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTAAAAT	NONE	.	.	.	.	.	ENSP00000357900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368904	Transcript	.	.	ENSG00000138161	17937	.	.	HIGH	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUZD1_HUMAN	CUZD1	HGNC	.	.	UPI000004C655	SNV	CUZD1,splice_acceptor_variant,,ENST00000392790,;CUZD1,splice_acceptor_variant,,ENST00000368904,;CUZD1,splice_acceptor_variant,,ENST00000545804,;CUZD1,splice_acceptor_variant,,ENST00000368900,;CUZD1,splice_acceptor_variant,,ENST00000368901,;CUZD1,splice_acceptor_variant,,ENST00000368899,;CUZD1,splice_acceptor_variant,,ENST00000338948,;	.	56	60	SUCCESS
STK32C	282974	.	GRCh37	10	134022595	134022595	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs374006685	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	72	0	ENST00000298630.3:c.1262A>G	p.Tyr421Cys	p.Y421C	ENST00000298630	NM_173575.2	421	tAt/tGt	0	C:0.0002	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7666.1	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATAGTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24356:SF145,hmmpanther:PTHR24356	.	C:0	ENSP00000298630	.	11/12	.	.	.	.	.	.	.	.	rs374006685	11/12	PASS	ENST00000298630	Transcript	.	.	ENSG00000165752	21332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.06)	.	ST32C_HUMAN	STK32C	HGNC	I6L972_HUMAN	.	UPI0000192113	SNV	STK32C,missense_variant,p.Tyr304Cys,ENST00000368622,;STK32C,missense_variant,p.Tyr434Cys,ENST00000368625,;STK32C,missense_variant,p.Tyr421Cys,ENST00000298630,;DPYSL4,downstream_gene_variant,,ENST00000368627,;DPYSL4,downstream_gene_variant,,ENST00000338492,;DPYSL4,downstream_gene_variant,,ENST00000368629,;DPYSL4,downstream_gene_variant,,ENST00000471544,;STK32C,3_prime_UTR_variant,,ENST00000462160,;	1369	72	89	SUCCESS
PTER	9317	.	GRCh37	10	16547129	16547129	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	80	0	ENST00000378000.1:c.809A>G	p.Asp270Gly	p.D270G	ENST00000378000	NM_001001484.2	270	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS7111.1	809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGACATGC	NONE	.	.	PROSITE_profiles:PS51347,hmmpanther:PTHR10819,Gene3D:3.20.20.140,Pfam_domain:PF02126,Superfamily_domains:SSF51556	.	.	ENSP00000367239	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000378000	Transcript	.	.	ENSG00000165983	9590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.08)	.	PTER_HUMAN	PTER	HGNC	.	.	UPI00000492E9	SNV	PTER,missense_variant,p.Asp270Gly,ENST00000298942,;PTER,missense_variant,p.Asp270Gly,ENST00000378000,;PTER,missense_variant,p.Asp270Gly,ENST00000535784,;PTER,intron_variant,,ENST00000423462,;	1055	80	103	SUCCESS
SKIDA1	387640	.	GRCh37	10	21807397	21807397	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	71	0	ENST00000449193.2:c.-646A>G		p.*216*	ENST00000449193	NM_207371.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44363.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATTAAAC	NONE	.	.	.	.	.	ENSP00000410041	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000449193	Transcript	.	.	ENSG00000180592	32697	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SKIDA1	HGNC	E9PAX1_HUMAN	.	UPI00015386B3	SNV	SKIDA1,5_prime_UTR_variant,,ENST00000449193,;SKIDA1,upstream_gene_variant,,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	1608	71	101	SUCCESS
ANKRD26	22852	.	GRCh37	10	27306542	27306542	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	31	69	0	ENST00000376087.4:c.4395A>T	p.Ile1465=	p.I1465=	ENST00000376087	NM_014915.2	1465	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS41499.1	4395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTATATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,synonymous_variant,p.%3D,ENST00000376087,;ANKRD26,synonymous_variant,p.%3D,ENST00000376070,;ANKRD26,synonymous_variant,p.%3D,ENST00000436985,;ANKRD26,upstream_gene_variant,,ENST00000445828,;	4561	69	127	SUCCESS
ANKRD26	22852	.	GRCh37	10	27337852	27337852	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	50	0	ENST00000376087.4:c.1692A>T	p.Ile564=	p.I564=	ENST00000376087	NM_014915.2	564	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS41499.1	1692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGTATGTT	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,synonymous_variant,p.%3D,ENST00000376087,;ANKRD26,synonymous_variant,p.%3D,ENST00000376070,;ANKRD26,synonymous_variant,p.%3D,ENST00000436985,;ANKRD26,upstream_gene_variant,,ENST00000490015,;	1858	50	73	SUCCESS
C10orf40	0	.	GRCh37	10	61719187	61719187	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	61	0	ENST00000521074.1:c.-652-106T>A		p.*218*	ENST00000521074				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACACTCTC	NONE	.	.	.	.	.	ENSP00000430990	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521074	Transcript	.	.	ENSG00000235931	23524	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ040_HUMAN	C10orf40	HGNC	.	.	UPI00001600DA	SNV	C10orf40,5_prime_UTR_variant,,ENST00000444900,;C10orf40,intron_variant,,ENST00000521074,;C10orf40,upstream_gene_variant,,ENST00000430888,;	.	61	86	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72434384	72434384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	30	0	ENST00000373207.1:c.155T>A	p.Phe52Tyr	p.F52Y	ENST00000373207	NM_080722.3	52	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS7307.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTTCCTCT	NONE	.	.	hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723	.	.	ENSP00000362304	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	tolerated(0.39)	.	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,missense_variant,p.Phe52Tyr,ENST00000373208,;ADAMTS14,missense_variant,p.Phe52Tyr,ENST00000373207,;	155	30	34	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75551724	75551724	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	25	85	0	ENST00000605216.1:c.1427G>T	p.Arg476Leu	p.R476L	ENST00000605216	NM_001242487.1	476	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS44440.1	1427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGGCCAG	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0)	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,missense_variant,p.Arg476Leu,ENST00000604729,;ZSWIM8,missense_variant,p.Arg476Leu,ENST00000604524,;ZSWIM8,missense_variant,p.Arg476Leu,ENST00000603114,;ZSWIM8,missense_variant,p.Arg476Leu,ENST00000605216,;ZSWIM8,missense_variant,p.Arg476Leu,ENST00000398706,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8-AS1,downstream_gene_variant,,ENST00000456638,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,missense_variant,p.Arg95Leu,ENST00000492395,;ZSWIM8,missense_variant,p.Arg476Leu,ENST00000433366,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;	1644	85	129	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397295	79397295	+	synonymous_variant	Silent	SNP	G	G	A	rs1446528365	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	75	235	0	ENST00000286628.8:c.106C>T	p.Leu36=	p.L36=	ENST00000286628	NM_001161352.1	36	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS53545.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTAGGCTGA	NONE	.	.	hmmpanther:PTHR10027:SF18,hmmpanther:PTHR10027	.	.	ENSP00000385806	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,synonymous_variant,p.%3D,ENST00000404857,;KCNMA1,synonymous_variant,p.%3D,ENST00000480683,;KCNMA1,synonymous_variant,p.%3D,ENST00000406533,;KCNMA1,synonymous_variant,p.%3D,ENST00000354353,;KCNMA1,synonymous_variant,p.%3D,ENST00000457953,;KCNMA1,synonymous_variant,p.%3D,ENST00000481070,;KCNMA1,synonymous_variant,p.%3D,ENST00000372443,;KCNMA1,synonymous_variant,p.%3D,ENST00000286627,;KCNMA1,synonymous_variant,p.%3D,ENST00000404771,;KCNMA1,synonymous_variant,p.%3D,ENST00000372440,;KCNMA1,synonymous_variant,p.%3D,ENST00000372421,;KCNMA1,synonymous_variant,p.%3D,ENST00000286628,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;	106	235	330	SUCCESS
OPN4	94233	.	GRCh37	10	88414684	88414684	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	rs764823142	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	42	0	ENST00000241891.5:c.144A>C		p.X48_splice	ENST00000241891	NM_033282.3	48	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31237.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGTAAG	NONE	.	.	hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72	.	.	ENSP00000361141	.	1/11	.	.	.	.	.	.	.	.	rs764823142	1/11	PASS	ENST00000372071	Transcript	.	.	ENSG00000122375	14449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPN4_HUMAN	OPN4	HGNC	.	.	UPI00001544ED	SNV	OPN4,synonymous_variant,p.%3D,ENST00000241891,;OPN4,synonymous_variant,p.%3D,ENST00000372071,;OPN4,synonymous_variant,p.%3D,ENST00000443292,;	371	42	56	SUCCESS
IDE	3416	.	GRCh37	10	94267964	94267964	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	211	52	197	0	ENST00000265986.6:c.1061-2A>T		p.X354_splice	ENST00000265986	NM_004969.3	354		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7421.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTGCAAC	NONE	.	.	.	.	.	ENSP00000265986	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	HIGH	7/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,splice_acceptor_variant,,ENST00000265986,;IDE,downstream_gene_variant,,ENST00000436178,;IDE,splice_acceptor_variant,,ENST00000478361,;	.	197	264	SUCCESS
NOC3L	64318	.	GRCh37	10	96116932	96116932	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	83	0	ENST00000371361.3:c.507A>T		p.X169_splice	ENST00000371361	NM_022451.9	169	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7433.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTGGCTT	NONE	.	.	PIRSF_domain:PIRSF028977,hmmpanther:PTHR14428:SF5,hmmpanther:PTHR14428	.	.	ENSP00000360412	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000371361	Transcript	.	.	ENSG00000173145	24034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOC3L_HUMAN	NOC3L	HGNC	.	.	UPI000006DE09	SNV	NOC3L,synonymous_variant,p.%3D,ENST00000371361,;NOC3L,synonymous_variant,p.%3D,ENST00000371350,;NOC3L,upstream_gene_variant,,ENST00000543788,;NOC3L,splice_region_variant,,ENST00000463649,;NOC3L,downstream_gene_variant,,ENST00000461562,;	608	83	120	SUCCESS
MMP20	9313	.	GRCh37	11	102479781	102479781	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	27	84	0	ENST00000260228.2:c.698G>T	p.Gly233Val	p.G233V	ENST00000260228	NM_004771.3	233	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS8318.1	698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCCAGG	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF125,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000260228	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000260228	Transcript	.	.	ENSG00000137674	7167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MMP20_HUMAN	MMP20	HGNC	.	.	UPI000013D0B3	SNV	MMP20,missense_variant,p.Gly233Val,ENST00000260228,;RP11-817J15.2,intron_variant,,ENST00000542119,;RP11-817J15.2,downstream_gene_variant,,ENST00000544115,;MMP20,upstream_gene_variant,,ENST00000544938,;	711	84	103	SUCCESS
GRIA4	2893	.	GRCh37	11	105768993	105768993	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	33	123	0	ENST00000282499.5:c.727-2A>T		p.X243_splice	ENST00000282499	NM_000829.3	243		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8333.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGGGAT	NONE	.	.	.	.	.	ENSP00000282499	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	HIGH	6/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,splice_acceptor_variant,,ENST00000282499,;GRIA4,splice_acceptor_variant,,ENST00000530497,;GRIA4,splice_acceptor_variant,,ENST00000393127,;GRIA4,splice_acceptor_variant,,ENST00000525187,;GRIA4,splice_acceptor_variant,,ENST00000428631,;GRIA4,splice_acceptor_variant,,ENST00000393125,;GRIA4,splice_acceptor_variant,,ENST00000527687,;	.	123	157	SUCCESS
ANKK1	255239	.	GRCh37	11	113270966	113270966	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	96	0	ENST00000303941.3:c.2275C>A	p.Pro759Thr	p.P759T	ENST00000303941	NM_178510.1	759	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS44734.1	2275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGCCAGGA	NONE	.	.	.	.	.	ENSP00000306678	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000303941	Transcript	.	.	ENSG00000170209	21027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	deleterious_low_confidence(0.03)	.	ANKK1_HUMAN	ANKK1	HGNC	.	.	UPI000000DCCF	SNV	ANKK1,missense_variant,p.Pro759Thr,ENST00000303941,;ANKK1,downstream_gene_variant,,ENST00000542948,;	2369	96	91	SUCCESS
DRD2	1813	.	GRCh37	11	113295219	113295219	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	93	0	ENST00000362072.3:c.155A>T	p.Asn52Ile	p.N52I	ENST00000362072	NM_000795.3	52	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS8361.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTTGCCG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000354859	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000362072	Transcript	.	.	ENSG00000149295	3023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DRD2_HUMAN	DRD2	HGNC	Q6LDH7_HUMAN	.	UPI0000001315	SNV	DRD2,missense_variant,p.Asn52Ile,ENST00000542968,;DRD2,missense_variant,p.Asn52Ile,ENST00000543292,;DRD2,missense_variant,p.Asn52Ile,ENST00000544518,;DRD2,missense_variant,p.Asn52Ile,ENST00000362072,;DRD2,missense_variant,p.Asn52Ile,ENST00000355319,;DRD2,missense_variant,p.Asn52Ile,ENST00000346454,;DRD2,missense_variant,p.Asn52Ile,ENST00000538967,;DRD2,downstream_gene_variant,,ENST00000542616,;DRD2,non_coding_transcript_exon_variant,,ENST00000535984,;DRD2,non_coding_transcript_exon_variant,,ENST00000540600,;	500	93	79	SUCCESS
DSCAML1	57453	.	GRCh37	11	117299320	117299320	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	21	71	0	ENST00000321322.6:c.6066T>A	p.Ala2022=	p.A2022=	ENST00000321322	NM_020693.2	2022	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8384.1	6066	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCAGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171	.	.	ENSP00000315465	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,synonymous_variant,p.%3D,ENST00000527706,;DSCAML1,synonymous_variant,p.%3D,ENST00000321322,;	6068	71	116	SUCCESS
DSCAML1	57453	.	GRCh37	11	117375751	117375751	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	59	0	ENST00000321322.6:c.2250T>A	p.Pro750=	p.P750=	ENST00000321322	NM_020693.2	750	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8384.1	2250	RADIA|MUTECT|MUSE|VARSCANS	.	AATCGAGGGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,synonymous_variant,p.%3D,ENST00000527706,;DSCAML1,synonymous_variant,p.%3D,ENST00000321322,;	2252	59	63	SUCCESS
FOXR1	283150	.	GRCh37	11	118851924	118851924	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	20	120	0	ENST00000317011.3:c.857T>A	p.Met286Lys	p.M286K	ENST00000317011	NM_181721.2	286	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS31688.1	857	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGATGCCCT	NONE	.	.	.	.	.	ENSP00000314806	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000317011	Transcript	.	.	ENSG00000176302	29980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.05)	.	FOXR1_HUMAN	FOXR1	HGNC	.	.	UPI0000192103	SNV	FOXR1,missense_variant,p.Met286Lys,ENST00000317011,;FOXR1,downstream_gene_variant,,ENST00000533282,;FOXR1,3_prime_UTR_variant,,ENST00000531539,;	1082	120	110	SUCCESS
MUC5B	727897	.	GRCh37	11	1268952	1268952	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	82	0	ENST00000529681.1:c.10842C>A	p.Gly3614=	p.G3614=	ENST00000529681	NM_002458.2	3614	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS44515.2	10842	RADIA|MUTECT|VARSCANS	.	CTGGGCCTCGA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	10900	82	69	SUCCESS
FAR1	84188	.	GRCh37	11	13721881	13721881	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	69	219	0	ENST00000354817.3:c.207A>T	p.Arg69Ser	p.R69S	ENST00000354817	NM_032228.5	69	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7813.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGAGATGA	NONE	.	.	hmmpanther:PTHR11011,Gene3D:3.40.50.720,Pfam_domain:PF07993,Superfamily_domains:SSF51735	.	.	ENSP00000346874	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000354817	Transcript	.	.	ENSG00000197601	26222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.457)	.	deleterious(0.03)	.	FACR1_HUMAN	FAR1	HGNC	E9PPB8_HUMAN	.	UPI00000477EF	SNV	FAR1,missense_variant,p.Arg69Ser,ENST00000354817,;FAR1,missense_variant,p.Arg69Ser,ENST00000532701,;FAR1,non_coding_transcript_exon_variant,,ENST00000532769,;FAR1,non_coding_transcript_exon_variant,,ENST00000524933,;	351	219	306	SUCCESS
OTOG	340990	.	GRCh37	11	17632761	17632761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	48	0	ENST00000399391.2:c.5950A>T	p.Arg1984Trp	p.R1984W	ENST00000399391	NM_001277269.1	1984	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS59225.1	5950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAGGACG	NONE	.	.	hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339	.	.	ENSP00000382323	.	35/55	.	.	.	.	.	.	.	.	.	35/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,missense_variant,p.Arg1911Trp,ENST00000399397,;OTOG,missense_variant,p.Arg990Trp,ENST00000342528,;OTOG,missense_variant,p.Arg1984Trp,ENST00000399391,;	5950	48	44	SUCCESS
MRGPRX1	259249	.	GRCh37	11	18955672	18955672	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	58	0	ENST00000302797.3:c.660C>A	p.Leu220=	p.L220=	ENST00000302797	NM_147199.3	220	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7846.1	660	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGAGCAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF22,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR02108	.	.	ENSP00000305766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302797	Transcript	.	.	ENSG00000170255	17962	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MRGX1_HUMAN	MRGPRX1	HGNC	.	.	UPI000003BCCF	SNV	MRGPRX1,synonymous_variant,p.%3D,ENST00000302797,;RP11-583F24.8,upstream_gene_variant,,ENST00000528646,;MRGPRX1,downstream_gene_variant,,ENST00000526914,;	885	58	64	SUCCESS
SLC5A12	159963	.	GRCh37	11	26713894	26713894	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	10	0	ENST00000396005.3:c.1153+142T>A		p.*385*	ENST00000396005	NM_178498.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7860.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTAAGAATC	NONE	.	.	.	.	.	ENSP00000379326	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396005	Transcript	.	.	ENSG00000148942	28750	.	.	MODIFIER	9/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC5AC_HUMAN	SLC5A12	HGNC	E9PLZ7_HUMAN	.	UPI000003ED2C	SNV	SLC5A12,3_prime_UTR_variant,,ENST00000280467,;SLC5A12,intron_variant,,ENST00000396005,;SLC5A12,downstream_gene_variant,,ENST00000533617,;SLC5A12,intron_variant,,ENST00000527405,;	.	10	19	SUCCESS
CD44	960	.	GRCh37	11	35223290	35223290	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	85	0	ENST00000428726.2:c.1109A>T	p.His370Leu	p.H370L	ENST00000428726	NM_000610.3	370	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS7897.1	1109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCATGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6	.	.	ENSP00000398632	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000428726	Transcript	.	.	ENSG00000026508	1681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious(0.03)	.	CD44_HUMAN	CD44	HGNC	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN	.	UPI000013D3FE	SNV	CD44,missense_variant,p.His370Leu,ENST00000449691,;CD44,missense_variant,p.His370Leu,ENST00000437706,;CD44,missense_variant,p.His22Leu,ENST00000528672,;CD44,missense_variant,p.His327Leu,ENST00000415148,;CD44,missense_variant,p.His222Leu,ENST00000528455,;CD44,missense_variant,p.His115Leu,ENST00000524922,;CD44,missense_variant,p.His370Leu,ENST00000428726,;CD44,missense_variant,p.His371Leu,ENST00000433354,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000525211,;CD44,intron_variant,,ENST00000442151,;CD44,intron_variant,,ENST00000278386,;CD44,intron_variant,,ENST00000263398,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000434472,;CD44,intron_variant,,ENST00000525685,;CD44,intron_variant,,ENST00000526553,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000533222,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000531873,;CD44,intron_variant,,ENST00000526000,;CD44,intron_variant,,ENST00000531110,;CD44,intron_variant,,ENST00000433892,;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000527889,;CD44,intron_variant,,ENST00000528086,;CD44,downstream_gene_variant,,ENST00000528922,;CD44,downstream_gene_variant,,ENST00000525209,;CD44,non_coding_transcript_exon_variant,,ENST00000534296,;CD44,non_coding_transcript_exon_variant,,ENST00000534082,;CD44,non_coding_transcript_exon_variant,,ENST00000525293,;CD44,intron_variant,,ENST00000425428,;CD44,intron_variant,,ENST00000525241,;CD44,upstream_gene_variant,,ENST00000532339,;CD44,downstream_gene_variant,,ENST00000525348,;	1232	85	119	SUCCESS
RAG1	5896	.	GRCh37	11	36595110	36595110	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	36	141	0	ENST00000299440.5:c.256A>T	p.Lys86Ter	p.K86*	ENST00000299440	NM_000448.2	86	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS7902.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTAAGTTT	NONE	.	.	hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	CD982919	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,stop_gained,p.Lys86Ter,ENST00000299440,;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,stop_gained,p.Lys86Ter,ENST00000534663,;	368	141	141	SUCCESS
RAG2	5897	.	GRCh37	11	36615073	36615073	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	51	0	ENST00000311485.3:c.646A>T	p.Ile216Phe	p.I216F	ENST00000311485	NM_000536.3	216	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS7903.1	646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGATGGTGT	NONE	.	.	hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Pfam_domain:PF03089,Superfamily_domains:0047741	.	.	ENSP00000308620	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311485	Transcript	.	.	ENSG00000175097	9832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.487)	.	deleterious(0)	.	RAG2_HUMAN	RAG2	HGNC	Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN	.	UPI00001330E9	SNV	RAG2,missense_variant,p.Ile216Phe,ENST00000311485,;C11orf74,upstream_gene_variant,,ENST00000530697,;C11orf74,upstream_gene_variant,,ENST00000534635,;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000347206,;RAG2,downstream_gene_variant,,ENST00000529083,;C11orf74,upstream_gene_variant,,ENST00000527108,;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000446510,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000334307,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG2,downstream_gene_variant,,ENST00000534379,;C11orf74,upstream_gene_variant,,ENST00000528092,;RAG1,downstream_gene_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000524539,;	808	51	82	SUCCESS
B4GALNT4	338707	.	GRCh37	11	379652	379652	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	51	0	ENST00000329962.6:c.2439A>T	p.Pro813=	p.P813=	ENST00000329962	NM_178537.4	813	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7694.1	2439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCACTGCG	NONE	.	.	hmmpanther:PTHR12369:SF9,hmmpanther:PTHR12369,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000328277	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000329962	Transcript	.	.	ENSG00000182272	26315	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B4GN4_HUMAN	B4GALNT4	HGNC	.	.	UPI00002326B6	SNV	B4GALNT4,synonymous_variant,p.%3D,ENST00000329962,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000524443,;B4GALNT4,upstream_gene_variant,,ENST00000534778,;	2439	51	68	SUCCESS
OR51E1	143503	.	GRCh37	11	4674516	4674516	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs748035450	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	49	0	ENST00000396952.5:c.760T>A	p.Tyr254Asn	p.Y254N	ENST00000396952	NM_152430.3	254	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS31358.2	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTATGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF34,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	rs748035450	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,missense_variant,p.Tyr254Asn,ENST00000396952,;OR51E1,intron_variant,,ENST00000530215,;	1410	49	59	SUCCESS
CKAP5	9793	.	GRCh37	11	46819392	46819392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	49	200	0	ENST00000529230.1:c.1301A>T	p.Lys434Met	p.K434M	ENST00000529230		434	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS31477.1	1301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTTTGGC	NONE	.	.	hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609,Gene3D:1.25.10.10,Pfam_domain:PF12348,Superfamily_domains:SSF48371	.	.	ENSP00000432768	.	11/44	.	.	.	.	.	.	.	.	.	11/44	PASS	ENST00000529230	Transcript	.	.	ENSG00000175216	28959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.763)	.	deleterious(0)	.	CKAP5_HUMAN	CKAP5	HGNC	E9PQH5_HUMAN	.	UPI000013F21E	SNV	CKAP5,missense_variant,p.Lys434Met,ENST00000415402,;CKAP5,missense_variant,p.Lys434Met,ENST00000354558,;CKAP5,missense_variant,p.Lys434Met,ENST00000312055,;CKAP5,missense_variant,p.Lys434Met,ENST00000529230,;CKAP5,downstream_gene_variant,,ENST00000532321,;	1348	200	261	SUCCESS
OR5D13	390142	.	GRCh37	11	55541071	55541071	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1319343259	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	129	0	ENST00000361760.1:c.158T>A	p.Leu53His	p.L53H	ENST00000361760	NM_001001967.1	53	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS31507.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTCAATT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354800	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361760	Transcript	.	.	ENSG00000198877	15280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0)	.	OR5DD_HUMAN	OR5D13	HGNC	.	.	UPI0000041C36	SNV	OR5D13,missense_variant,p.Leu53His,ENST00000361760,;	158	129	113	SUCCESS
OR5T2	219464	.	GRCh37	11	56000215	56000215	+	synonymous_variant	Silent	SNP	T	T	A	rs369632317	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	89	0	ENST00000313264.4:c.447A>T	p.Thr149=	p.T149=	ENST00000313264	NM_001004746.1	149	acA/acT	0	C:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS31523.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTGTGGT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	C:0	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	rs369632317	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,synonymous_variant,p.%3D,ENST00000313264,;	523	89	98	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57076311	57076311	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1268813227	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	41	0	ENST00000358252.3:c.3874C>T	p.Pro1292Ser	p.P1292S	ENST00000358252	NM_033396.2	1292	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7951.1	3874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGGGCCA	NONE	.	.	hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.33)	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,missense_variant,p.Pro1292Ser,ENST00000532437,;TNKS1BP1,missense_variant,p.Pro1292Ser,ENST00000358252,;TNKS1BP1,downstream_gene_variant,,ENST00000530920,;TNKS1BP1,intron_variant,,ENST00000528882,;	4186	41	37	SUCCESS
DTX4	23220	.	GRCh37	11	58940270	58940270	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	29	91	0	ENST00000227451.3:c.202C>G	p.Gln68Glu	p.Q68E	ENST00000227451	NM_015177.1	68	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS44612.1	202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCCAAGAC	NONE	.	.	Superfamily_domains:SSF117839,SMART_domains:SM00678,Pfam_domain:PF02825,hmmpanther:PTHR12622:SF5,hmmpanther:PTHR12622,PROSITE_profiles:PS50918	.	.	ENSP00000227451	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000227451	Transcript	.	.	ENSG00000110042	29151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.845)	.	deleterious(0)	.	DTX4_HUMAN	DTX4	HGNC	.	.	UPI00001C1F00	SNV	DTX4,missense_variant,p.Gln68Glu,ENST00000227451,;DTX4,intron_variant,,ENST00000532982,;	306	91	112	SUCCESS
MS4A3	932	.	GRCh37	11	59828780	59828780	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	67	0	ENST00000278865.3:c.147A>C	p.Gln49His	p.Q49H	ENST00000278865	NM_006138.4	49	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS31567.1	147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAAGTTCT	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46	.	.	ENSP00000278865	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000278865	Transcript	.	.	ENSG00000149516	7317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	MS4A3_HUMAN	MS4A3	HGNC	.	.	UPI000006E45E	SNV	MS4A3,missense_variant,p.Gln49His,ENST00000534744,;MS4A3,missense_variant,p.Gln49His,ENST00000358152,;MS4A3,missense_variant,p.Gln49His,ENST00000278865,;MS4A3,intron_variant,,ENST00000395032,;MS4A3,non_coding_transcript_exon_variant,,ENST00000526199,;MS4A3,missense_variant,p.Gln49His,ENST00000525686,;MS4A3,non_coding_transcript_exon_variant,,ENST00000528298,;	220	67	82	SUCCESS
MS4A14	84689	.	GRCh37	11	60170383	60170383	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	14	51	0	ENST00000300187.6:c.319-2A>T		p.X107_splice	ENST00000300187	NM_032597.4	107		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58136.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCAGGGTC	NONE	.	.	.	.	.	ENSP00000433761	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000531783	Transcript	.	.	ENSG00000166928	30706	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MS4A14	HGNC	E9PJE3_HUMAN	.	UPI0001F77AC2	SNV	MS4A14,splice_acceptor_variant,,ENST00000395005,;MS4A14,splice_acceptor_variant,,ENST00000531783,;MS4A14,splice_acceptor_variant,,ENST00000395001,;MS4A14,splice_acceptor_variant,,ENST00000534688,;MS4A14,splice_acceptor_variant,,ENST00000531787,;MS4A14,splice_acceptor_variant,,ENST00000300187,;MS4A14,splice_acceptor_variant,,ENST00000526375,;MS4A14,splice_acceptor_variant,,ENST00000527841,;MS4A14,splice_acceptor_variant,,ENST00000525397,;MS4A14,splice_acceptor_variant,,ENST00000530662,;MS4A14,downstream_gene_variant,,ENST00000531949,;	.	51	84	SUCCESS
HRASLS5	0	.	GRCh37	11	63235905	63235905	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	41	0	ENST00000301790.4:c.408T>A	p.Ile136=	p.I136=	ENST00000301790		136	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8044.1	408	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCAATCAG	NONE	.	.	hmmpanther:PTHR13943,hmmpanther:PTHR13943:SF2,Pfam_domain:PF04970	.	.	ENSP00000301790	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000301790	Transcript	.	.	ENSG00000168004	24978	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HRSL5_HUMAN	HRASLS5	HGNC	F5H4Q3_HUMAN	.	UPI000013E758	SNV	HRASLS5,synonymous_variant,p.%3D,ENST00000540857,;HRASLS5,synonymous_variant,p.%3D,ENST00000539221,;HRASLS5,synonymous_variant,p.%3D,ENST00000301790,;HRASLS5,5_prime_UTR_variant,,ENST00000538712,;HRASLS5,stop_lost,p.Ter38ArgextTer7,ENST00000394615,;HRASLS5,intron_variant,,ENST00000536887,;	568	41	72	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73066957	73066957	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	54	0	ENST00000263674.3:c.3622A>T	p.Lys1208Ter	p.K1208*	ENST00000263674	NM_014786.3	1208	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS8221.1	3622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCAAGCCT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000263674	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,stop_gained,p.Lys1208Ter,ENST00000263674,;AP002761.1,upstream_gene_variant,,ENST00000582555,;ARHGEF17,downstream_gene_variant,,ENST00000536170,;ARHGEF17,upstream_gene_variant,,ENST00000537198,;	3972	54	70	SUCCESS
TRIM49	57093	.	GRCh37	11	89537313	89537313	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	46	0	ENST00000329758.1:c.325A>G	p.Ser109Gly	p.S109G	ENST00000329758	NM_020358.2	109	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS8287.1	325	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGCTCCTGT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000327604	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000329758	Transcript	.	.	ENSG00000168930	13431	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.544)	.	tolerated(0.06)	.	TRI49_HUMAN	TRIM49	HGNC	I1YAQ5_HUMAN	.	UPI000013431B	SNV	TRIM49,missense_variant,p.Ser109Gly,ENST00000532501,;TRIM49,missense_variant,p.Ser109Gly,ENST00000329758,;	654	46	47	SUCCESS
NAALAD2	10003	.	GRCh37	11	89911262	89911262	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	118	0	ENST00000534061.1:c.1835T>A	p.Leu612Ter	p.L612*	ENST00000534061	NM_005467.3	612	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS8288.1	1835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATTGACAG	NONE	.	.	Superfamily_domains:SSF47672,Gene3D:3kasA03,hmmpanther:PTHR10404:SF38,hmmpanther:PTHR10404	.	.	ENSP00000432481	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000534061	Transcript	.	.	ENSG00000077616	14526	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALD2_HUMAN	NAALAD2	HGNC	E9PJ53_HUMAN,E9PII2_HUMAN	.	UPI0000031A85	SNV	NAALAD2,stop_gained,p.Leu612Ter,ENST00000534061,;NAALAD2,stop_gained,p.Leu579Ter,ENST00000321955,;NAALAD2,intron_variant,,ENST00000375944,;	2065	118	122	SUCCESS
UHRF1BP1L	23074	.	GRCh37	12	100453136	100453136	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs538548609	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	25	80	0	ENST00000279907.7:c.1919A>T	p.Tyr640Phe	p.Y640F	ENST00000279907	NM_015054.1	640	tAt/tTt	0	.	C:0	.	C:0	.	A	Y/F	protein_coding	YES	CCDS31882.1	1919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTATATGTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	C:0	.	ENSP00000279907	C:0	14/21	.	.	.	.	.	.	.	.	rs538548609	14/21	PASS	ENST00000279907	Transcript	.	C:0.0002	ENSG00000111647	29102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0.001	tolerated(0.6)	.	UH1BL_HUMAN	UHRF1BP1L	HGNC	F8W665_HUMAN,F8VWX2_HUMAN	.	UPI0000160563	SNV	UHRF1BP1L,missense_variant,p.Tyr290Phe,ENST00000545232,;UHRF1BP1L,missense_variant,p.Tyr640Phe,ENST00000279907,;	2132	80	122	SUCCESS
SLC17A8	246213	.	GRCh37	12	100813686	100813686	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	34	0	ENST00000323346.5:c.1519C>G	p.Gln507Glu	p.Q507E	ENST00000323346	NM_001145288.1	507	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9077.1	1519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACAGGAG	NONE	.	.	hmmpanther:PTHR11662:SF207,hmmpanther:PTHR11662,Gene3D:1.20.1250.20	.	.	ENSP00000316909	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000323346	Transcript	.	.	ENSG00000179520	20151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	VGLU3_HUMAN	SLC17A8	HGNC	.	.	UPI0000073B9B	SNV	SLC17A8,missense_variant,p.Gln457Glu,ENST00000392989,;SLC17A8,missense_variant,p.Gln507Glu,ENST00000323346,;SLC17A8,non_coding_transcript_exon_variant,,ENST00000552697,;	1832	34	49	SUCCESS
UTP20	27340	.	GRCh37	12	101711258	101711258	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1308753600	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	74	0	ENST00000261637.4:c.2555A>G	p.Asn852Ser	p.N852S	ENST00000261637	NM_014503.2	852	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS9081.1	2555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCAATGAGT	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	22/62	.	.	.	.	.	.	.	.	.	22/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0.02)	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Asn852Ser,ENST00000261637,;	2729	74	89	SUCCESS
KIAA1033	0	.	GRCh37	12	105540256	105540256	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	51	217	0	ENST00000332180.5:c.2361A>T	p.Arg787Ser	p.R787S	ENST00000332180	NM_015275.1	787	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS41826.1	2361	RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGAAACAT	NONE	.	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14744	.	.	ENSP00000328062	.	23/33	.	.	.	.	.	.	.	.	.	23/33	PASS	ENST00000332180	Transcript	.	.	ENSG00000136051	29174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	SNV	KIAA1033,missense_variant,p.Arg787Ser,ENST00000332180,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000548534,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000550613,;KIAA1033,upstream_gene_variant,,ENST00000550786,;	2448	217	256	SUCCESS
SSH1	54434	.	GRCh37	12	109186287	109186287	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	57	0	ENST00000326495.5:c.1668G>A	p.Gln556=	p.Q556=	ENST00000326495	NM_018984.3	556	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9121.1	1668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCTGTCT	NONE	.	.	hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138	.	.	ENSP00000315713	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000326495	Transcript	.	.	ENSG00000084112	30579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSH1_HUMAN	SSH1	HGNC	.	.	UPI000003E894	SNV	SSH1,synonymous_variant,p.%3D,ENST00000326470,;SSH1,synonymous_variant,p.%3D,ENST00000551165,;SSH1,synonymous_variant,p.%3D,ENST00000326495,;SSH1,synonymous_variant,p.%3D,ENST00000360239,;SSH1,3_prime_UTR_variant,,ENST00000546433,;	1762	57	67	SUCCESS
UBE3B	89910	.	GRCh37	12	109968392	109968392	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	46	0	ENST00000342494.3:c.2851A>T	p.Arg951Ter	p.R951*	ENST00000342494	NM_130466.3	951	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS9129.1	2851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACAGAGTC	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF303,PROSITE_profiles:PS50237	.	.	ENSP00000340596	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000342494	Transcript	.	.	ENSG00000151148	13478	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE3B_HUMAN	UBE3B	HGNC	F5H5T5_HUMAN	.	UPI000013DC3B	SNV	UBE3B,stop_gained,p.Arg951Ter,ENST00000342494,;UBE3B,stop_gained,p.Arg951Ter,ENST00000434735,;UBE3B,stop_gained,p.Arg38Ter,ENST00000535089,;UBE3B,stop_gained,p.Arg62Ter,ENST00000605142,;UBE3B,downstream_gene_variant,,ENST00000539599,;UBE3B,3_prime_UTR_variant,,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000538070,;	3446	46	54	SUCCESS
CCDC60	160777	.	GRCh37	12	119978503	119978503	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	53	0	ENST00000327554.2:c.1636T>A	p.Tyr546Asn	p.Y546N	ENST00000327554	NM_178499.3	546	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS9190.1	1636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTACAGC	NONE	.	.	.	.	.	ENSP00000333374	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000327554	Transcript	.	.	ENSG00000183273	28610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious(0.03)	.	CCD60_HUMAN	CCDC60	HGNC	F5H5H4_HUMAN	.	UPI000019906E	SNV	CCDC60,missense_variant,p.Tyr546Asn,ENST00000327554,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;	2101	53	41	SUCCESS
CCDC62	84660	.	GRCh37	12	123261937	123261937	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	23	0	ENST00000253079.6:c.37-101A>T		p.*13*	ENST00000253079	NM_201435.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9238.1	.	MUTECT|MUSE	.	CTTAGAATTGG	NONE	.	.	.	.	.	ENSP00000253079	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000253079	Transcript	.	.	ENSG00000130783	30723	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD62_HUMAN	CCDC62	HGNC	.	.	UPI0000366924	SNV	CCDC62,5_prime_UTR_variant,,ENST00000537566,;CCDC62,intron_variant,,ENST00000392441,;CCDC62,intron_variant,,ENST00000539171,;CCDC62,intron_variant,,ENST00000253079,;CCDC62,upstream_gene_variant,,ENST00000392440,;CCDC62,intron_variant,,ENST00000341952,;	.	23	31	SUCCESS
DNAH10	196385	.	GRCh37	12	124284917	124284917	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	30	132	0	ENST00000409039.3:c.2090A>T	p.Gln697Leu	p.Q697L	ENST00000409039	NM_207437.3	697	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS9255.2	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAGGAAG	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000386770	.	14/78	.	.	.	.	.	.	.	.	.	14/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Gln697Leu,ENST00000409039,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;	2115	132	160	SUCCESS
CCDC92	80212	.	GRCh37	12	124427948	124427948	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	34	0	ENST00000238156.3:c.127A>T	p.Ser43Cys	p.S43C	ENST00000238156	NM_025140.1	43	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS9256.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCTGGCAT	NONE	.	.	hmmpanther:PTHR14882:SF4,hmmpanther:PTHR14882,Pfam_domain:PF14916	.	.	ENSP00000238156	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000238156	Transcript	.	.	ENSG00000119242	29563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	deleterious(0.01)	.	CCD92_HUMAN	CCDC92	HGNC	F5H7P8_HUMAN,F5H2Z7_HUMAN,F5H285_HUMAN,B3KNQ0_HUMAN	.	UPI000006FF96	SNV	CCDC92,missense_variant,p.Ser26Cys,ENST00000545135,;CCDC92,missense_variant,p.Ser43Cys,ENST00000539551,;CCDC92,missense_variant,p.Ser43Cys,ENST00000238156,;CCDC92,missense_variant,p.Ser43Cys,ENST00000539761,;CCDC92,missense_variant,p.Ser26Cys,ENST00000545891,;CCDC92,missense_variant,p.Ser26Cys,ENST00000535556,;CCDC92,downstream_gene_variant,,ENST00000545037,;CCDC92,non_coding_transcript_exon_variant,,ENST00000544798,;CCDC92,non_coding_transcript_exon_variant,,ENST00000542348,;	482	34	26	SUCCESS
TMEM132B	114795	.	GRCh37	12	126138935	126138935	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	37	58	0	ENST00000299308.3:c.2916A>T	p.Ile972=	p.I972=	ENST00000299308	NM_052907.2	972	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS41859.1	2916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATAGACAG	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,synonymous_variant,p.%3D,ENST00000535886,;TMEM132B,synonymous_variant,p.%3D,ENST00000299308,;	2924	58	112	SUCCESS
CACNA1C	775	.	GRCh37	12	2800241	2800241	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	110	0	ENST00000347598.4:c.6437T>A	p.Val2146Glu	p.V2146E	ENST00000347598	NM_199460.2	2146	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS44788.1	6437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTGAACT	NONE	.	.	.	.	.	ENSP00000266376	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated_low_confidence(0.28)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Val2098Glu,ENST00000399644,;CACNA1C,missense_variant,p.Val2106Glu,ENST00000399595,;CACNA1C,missense_variant,p.Val2169Glu,ENST00000406454,;CACNA1C,missense_variant,p.Val2133Glu,ENST00000399617,;CACNA1C,missense_variant,p.Val2146Glu,ENST00000347598,;CACNA1C,missense_variant,p.Val2117Glu,ENST00000402845,;CACNA1C,missense_variant,p.Val2133Glu,ENST00000327702,;CACNA1C,missense_variant,p.Val2169Glu,ENST00000399634,;CACNA1C,missense_variant,p.Val2098Glu,ENST00000399641,;CACNA1C,missense_variant,p.Val2098Glu,ENST00000399603,;CACNA1C,missense_variant,p.Val2115Glu,ENST00000399629,;CACNA1C,missense_variant,p.Val2098Glu,ENST00000399601,;CACNA1C,missense_variant,p.Val2098Glu,ENST00000399597,;CACNA1C,missense_variant,p.Val2098Glu,ENST00000399655,;CACNA1C,missense_variant,p.Val2118Glu,ENST00000399606,;CACNA1C,missense_variant,p.Val2117Glu,ENST00000399637,;CACNA1C,missense_variant,p.Val2123Glu,ENST00000335762,;CACNA1C,missense_variant,p.Val2106Glu,ENST00000399591,;CACNA1C,missense_variant,p.Val2117Glu,ENST00000399621,;CACNA1C,missense_variant,p.Val2126Glu,ENST00000399638,;CACNA1C,missense_variant,p.Val2139Glu,ENST00000344100,;CACNA1C,missense_variant,p.Val2104Glu,ENST00000399649,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000544517,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000541673,;	6437	110	138	SUCCESS
CNTN1	1272	.	GRCh37	12	41374784	41374784	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	66	0	ENST00000347616.1:c.1878T>A	p.Arg626=	p.R626=	ENST00000347616		626	cgT/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8737.1	1878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGTGGTTC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50853	.	.	ENSP00000447006	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,synonymous_variant,p.%3D,ENST00000551295,;CNTN1,synonymous_variant,p.%3D,ENST00000347616,;CNTN1,synonymous_variant,p.%3D,ENST00000348761,;	1995	66	73	SUCCESS
KCNA1	3736	.	GRCh37	12	5020350	5020350	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	11	0	ENST00000382545.3:c.-195A>T		p.*65*	ENST00000382545	NM_000217.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8535.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGGGTG	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,5_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	913	11	15	SUCCESS
KRT121P	0	.	GRCh37	12	52646093	52646093	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	G	T	rs767160746	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	58	0	ENST00000257935.6:n.1514C>A		p.X505_splice	ENST00000257935		505		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8822.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGTCCAG	NONE	.	3388	.	.	.	ENSP00000329243	.	.	.	.	.	.	.	.	.	.	rs767160746	.	PASS	ENST00000331817	Transcript	.	.	ENSG00000135480	6445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C7_HUMAN	KRT7	HGNC	.	.	UPI000013CF9E	SNV	KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;KRT7,downstream_gene_variant,,ENST00000331817,;RP3-416H24.1,upstream_gene_variant,,ENST00000546686,;KRT121P,non_coding_transcript_exon_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000550153,;KRT7,downstream_gene_variant,,ENST00000552322,;KRT7,downstream_gene_variant,,ENST00000548657,;KRT7,downstream_gene_variant,,ENST00000549127,;KRT7,downstream_gene_variant,,ENST00000549638,;KRT121P,splice_region_variant,,ENST00000257935,;KRT121P,non_coding_transcript_exon_variant,,ENST00000534226,;	.	58	48	SUCCESS
KRT81	3887	.	GRCh37	12	52680125	52680125	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	23	126	0	ENST00000327741.5:c.1432T>A	p.Cys478Ser	p.C478S	ENST00000327741	NM_002281.3	478	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS31805.1	1432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCAGGTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000369349	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000327741	Transcript	.	.	ENSG00000205426	6458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.22)	.	KRT81_HUMAN	KRT81	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000DBEEF8	SNV	KRT81,missense_variant,p.Cys478Ser,ENST00000327741,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;	1501	126	117	SUCCESS
KRT82	3888	.	GRCh37	12	52797536	52797536	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	6	30	0	ENST00000257974.2:c.569del	p.Leu190GlnfsTer36	p.L190Qfs*36	ENST00000257974	NM_033033.3	190	cTa/ca	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS8826.1	569	INDELOCATOR*|VARSCANI*|PINDEL	.	GACTCTAGCCTC	NONE	.	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF151,hmmpanther:PTHR23239	.	.	ENSP00000257974	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000257974	Transcript	.	.	ENSG00000161850	6459	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KRT82_HUMAN	KRT82	HGNC	.	.	UPI000013CFA4	deletion	KRT82,frameshift_variant,p.Leu190GlnfsTer36,ENST00000257974,;RP11-1020M18.10,upstream_gene_variant,,ENST00000548135,;RP3-416H24.4,downstream_gene_variant,,ENST00000547174,;	647	30	45	SUCCESS
KRT6A	3853	.	GRCh37	12	52883809	52883809	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	73	0	ENST00000330722.6:c.1121T>A	p.Leu374Gln	p.L374Q	ENST00000330722	NM_005554.3	374	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS41786.1	1121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCAGGTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Prints_domain:PR01276,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000369317	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000330722	Transcript	.	.	ENSG00000205420	6443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	K2C6A_HUMAN	KRT6A	HGNC	.	.	UPI000013CD4C	SNV	KRT6A,missense_variant,p.Leu374Gln,ENST00000330722,;KRT6A,non_coding_transcript_exon_variant,,ENST00000548735,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,downstream_gene_variant,,ENST00000549600,;KRT6A,downstream_gene_variant,,ENST00000549754,;	1190	73	75	SUCCESS
ERBB3	2065	.	GRCh37	12	56481414	56481414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	30	108	0	ENST00000267101.3:c.601G>T	p.Asp201Tyr	p.D201Y	ENST00000267101	NM_001982.3	201	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS31833.1	601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGACTGC	NONE	.	.	hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Pfam_domain:PF00757,Gene3D:2.10.220.10,SMART_domains:SM00261,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184,Superfamily_domains:SSF52058	.	.	ENSP00000267101	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,missense_variant,p.Asp142Tyr,ENST00000415288,;ERBB3,missense_variant,p.Asp201Tyr,ENST00000267101,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,downstream_gene_variant,,ENST00000549282,;ERBB3,downstream_gene_variant,,ENST00000549061,;ERBB3,downstream_gene_variant,,ENST00000549672,;ERBB3,downstream_gene_variant,,ENST00000411731,;ERBB3,missense_variant,p.Asp201Tyr,ENST00000551242,;ERBB3,missense_variant,p.Asp201Tyr,ENST00000551085,;ERBB3,non_coding_transcript_exon_variant,,ENST00000549472,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000546884,;ERBB3,upstream_gene_variant,,ENST00000551176,;ERBB3,upstream_gene_variant,,ENST00000546748,;	1041	109	122	SUCCESS
AGAP2	116986	.	GRCh37	12	58127876	58127876	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	65	0	ENST00000547588.1:c.1482T>A	p.His494Gln	p.H494Q	ENST00000547588	NM_001122772.2	494	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS44932.1	1482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCATGGAG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218,Pfam_domain:PF08477,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000449241	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious(0.01)	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,missense_variant,p.His158Gln,ENST00000257897,;AGAP2,missense_variant,p.His358Gln,ENST00000328568,;AGAP2,missense_variant,p.His494Gln,ENST00000547588,;AGAP2,upstream_gene_variant,,ENST00000549129,;TSPAN31,upstream_gene_variant,,ENST00000553221,;	1482	65	58	SUCCESS
PTPRB	5787	.	GRCh37	12	70965670	70965670	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	18	85	0	ENST00000261266.5:c.2386T>A	p.Tyr796Asn	p.Y796N	ENST00000261266	NM_002837.4	796	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS44943.1	3040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTACAACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Tyr796Asn,ENST00000538708,;PTPRB,missense_variant,p.Tyr926Asn,ENST00000550358,;PTPRB,missense_variant,p.Tyr1013Asn,ENST00000551525,;PTPRB,missense_variant,p.Tyr796Asn,ENST00000261266,;PTPRB,missense_variant,p.Tyr706Asn,ENST00000451516,;PTPRB,missense_variant,p.Tyr893Asn,ENST00000548122,;PTPRB,missense_variant,p.Tyr706Asn,ENST00000550857,;PTPRB,missense_variant,p.Tyr1014Asn,ENST00000334414,;	3085	85	103	SUCCESS
PTPRB	5787	.	GRCh37	12	70989857	70989857	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	18	91	0	ENST00000261266.5:c.576T>A	p.Ser192=	p.S192=	ENST00000261266	NM_002837.4	192	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS44943.1	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAGAACG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	1275	91	96	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85466707	85466707	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	70	0	ENST00000393217.2:c.2718A>G	p.Glu906=	p.E906=	ENST00000393217	NM_001079910.1	906	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS41816.1	2718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAAAACT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,synonymous_variant,p.%3D,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	2779	70	114	SUCCESS
MFAP5	8076	.	GRCh37	12	8813492	8813492	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	30	127	0	ENST00000359478.2:c.61T>A	p.Trp21Arg	p.W21R	ENST00000359478	NM_003480.2	21	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS8595.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCAGTCTA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,Pfam_domain:PF05507,hmmpanther:PTHR16485:SF5,hmmpanther:PTHR16485	.	.	ENSP00000352455	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000359478	Transcript	.	.	ENSG00000197614	29673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	tolerated(0.06)	.	MFAP5_HUMAN	MFAP5	HGNC	H0YGS3_HUMAN,F5H1C0_HUMAN	.	UPI000012F034	SNV	MFAP5,missense_variant,p.Trp21Arg,ENST00000359478,;MFAP5,missense_variant,p.Trp21Arg,ENST00000433590,;MFAP5,missense_variant,p.Trp21Arg,ENST00000540087,;MFAP5,missense_variant,p.Trp11Arg,ENST00000535411,;MFAP5,missense_variant,p.Trp21Arg,ENST00000396549,;MFAP5,missense_variant,p.Trp21Arg,ENST00000544889,;MFAP5,missense_variant,p.Trp21Arg,ENST00000535336,;MFAP5,intron_variant,,ENST00000543369,;RP11-20D14.3,upstream_gene_variant,,ENST00000539089,;RP11-20D14.3,upstream_gene_variant,,ENST00000544922,;MFAP5,splice_region_variant,,ENST00000538107,;MFAP5,upstream_gene_variant,,ENST00000538694,;MFAP5,missense_variant,p.Trp21Arg,ENST00000537009,;MFAP5,missense_variant,p.Trp21Arg,ENST00000544211,;MFAP5,splice_region_variant,,ENST00000534833,;MFAP5,splice_region_variant,,ENST00000537128,;	249	127	139	SUCCESS
KERA	11081	.	GRCh37	12	91449375	91449375	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	99	0	ENST00000266719.3:c.684A>T	p.Ile228=	p.I228=	ENST00000266719	NM_007035.3	228	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9037.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTATTCC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF60,hmmpanther:PTHR24371,Gene3D:3.80.10.10,SMART_domains:SM00364,Superfamily_domains:SSF52058	.	.	ENSP00000266719	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000266719	Transcript	.	.	ENSG00000139330	6309	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KERA_HUMAN	KERA	HGNC	.	.	UPI000000161F	SNV	KERA,synonymous_variant,p.%3D,ENST00000266719,;	932	99	103	SUCCESS
FGF14	2259	.	GRCh37	13	103053956	103053956	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769648115	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	83	0	ENST00000376131.4:c.73T>C	p.Phe25Leu	p.F25L	ENST00000376131	NM_175929.2	25	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS9500.1	73	MUTECT|MUSE|VARSCANS	.	GAGAAAGAAGA	NONE	byFrequency	.	.	.	.	ENSP00000365301	.	1/5	.	.	.	.	.	.	.	.	rs769648115	1/5	PASS	ENST00000376131	Transcript	.	.	ENSG00000102466	3671	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.02)	.	FGF14_HUMAN	FGF14	HGNC	.	.	UPI000000D898	SNV	FGF14,missense_variant,p.Phe25Leu,ENST00000376131,;RP11-811P12.3,splice_region_variant,,ENST00000418923,;	169	83	97	SUCCESS
RNF17	56163	.	GRCh37	13	25374648	25374648	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	33	0	ENST00000255324.5:c.1734G>T	p.Leu578Phe	p.L578F	ENST00000255324	NM_031277.2	578	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS9308.2	1734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTGAAAGA	NONE	.	.	hmmpanther:PTHR16442	.	.	ENSP00000255324	.	13/36	.	.	.	.	.	.	.	.	.	13/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,missense_variant,p.Leu578Phe,ENST00000255324,;RNF17,missense_variant,p.Leu578Phe,ENST00000381921,;RNF17,missense_variant,p.Leu578Phe,ENST00000255325,;RNF17,upstream_gene_variant,,ENST00000418120,;RNF17,downstream_gene_variant,,ENST00000255326,;	1786	33	34	SUCCESS
CPB2	1361	.	GRCh37	13	46627758	46627758	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	35	155	0	ENST00000181383.4:c.1263G>T	p.Arg421Ser	p.R421S	ENST00000181383	NM_001872.4	421	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9401.1	1263	RADIA|MUTECT|MUSE	.	ACATTCCTAAT	NONE	.	.	hmmpanther:PTHR11705:SF17,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000181383	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000181383	Transcript	.	.	ENSG00000080618	2300	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.444)	.	tolerated(0.08)	.	CBPB2_HUMAN	CPB2	HGNC	.	.	UPI000013C764	SNV	CPB2,missense_variant,p.Arg421Ser,ENST00000181383,;CPB2,3_prime_UTR_variant,,ENST00000439329,;ZC3H13,upstream_gene_variant,,ENST00000242848,;ZC3H13,upstream_gene_variant,,ENST00000428921,;ZC3H13,upstream_gene_variant,,ENST00000282007,;CPB2-AS1,intron_variant,,ENST00000415033,;CPB2-AS1,intron_variant,,ENST00000606243,;CPB2-AS1,intron_variant,,ENST00000606991,;CPB2-AS1,intron_variant,,ENST00000606351,;	1280	155	131	SUCCESS
SLITRK1	114798	.	GRCh37	13	84453857	84453857	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	95	0	ENST00000377084.2:c.1786A>T	p.Ser596Cys	p.S596C	ENST00000377084	NM_052910.2	596	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS9464.1	1786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTGTTTT	NONE	.	.	hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious(0.03)	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,missense_variant,p.Ser596Cys,ENST00000377084,;	2672	95	89	SUCCESS
APOPT1	0	.	GRCh37	14	104029339	104029339	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs747521660	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	21	0	ENST00000409074.2:c.40A>T	p.Met14Leu	p.M14L	ENST00000409074	NM_032374.3	14	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS9983.2	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCATGGTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31107,hmmpanther:PTHR31107:SF2	.	.	ENSP00000386485	.	1/5	.	.	.	.	.	.	.	.	rs747521660	1/5	PASS	ENST00000409074	Transcript	1	.	ENSG00000256053	20492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.15)	.	APOP1_HUMAN	APOPT1	HGNC	.	.	UPI0000EE34A7	SNV	APOPT1,start_lost,p.Met1?,ENST00000247618,;APOPT1,start_lost,p.Met1?,ENST00000556253,;APOPT1,missense_variant,p.His13Leu,ENST00000440963,;RP11-73M18.2,missense_variant,p.Met14Leu,ENST00000472726,;APOPT1,missense_variant,p.Met14Leu,ENST00000409074,;KLC1,intron_variant,,ENST00000557172,;BAG5,upstream_gene_variant,,ENST00000557666,;BAG5,upstream_gene_variant,,ENST00000299204,;APOPT1,upstream_gene_variant,,ENST00000495778,;BAG5,upstream_gene_variant,,ENST00000337322,;BAG5,upstream_gene_variant,,ENST00000445922,;RNU4-68P,upstream_gene_variant,,ENST00000364314,;RP11-894P9.2,downstream_gene_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000477116,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000492189,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,missense_variant,p.Met9Leu,ENST00000458117,;APOPT1,non_coding_transcript_exon_variant,,ENST00000554625,;APOPT1,upstream_gene_variant,,ENST00000489117,;	41	21	38	SUCCESS
OR11H4	390442	.	GRCh37	14	20711318	20711318	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	88	0	ENST00000315409.2:c.368T>A	p.Leu123His	p.L123H	ENST00000315409	NM_001004479.1	123	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS32034.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCTCTTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF99,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000318997	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315409	Transcript	.	.	ENSG00000176198	15347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	deleterious(0)	.	O11H4_HUMAN	OR11H4	HGNC	.	.	UPI0000041C42	SNV	OR11H4,missense_variant,p.Leu123His,ENST00000315409,;	421	88	75	SUCCESS
EDDM3A	10876	.	GRCh37	14	21215986	21215986	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1051566021	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	24	86	0	ENST00000326842.2:c.247G>A	p.Glu83Lys	p.E83K	ENST00000326842	NM_006683.4	83	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9556.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATGAGAAG	NONE	.	.	hmmpanther:PTHR16788,hmmpanther:PTHR16788:SF0,Pfam_domain:PF00074,Gene3D:3.10.130.10,Superfamily_domains:SSF54076	.	.	ENSP00000315098	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326842	Transcript	.	.	ENSG00000181562	16978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.97)	.	EP3A_HUMAN	EDDM3A	HGNC	.	.	UPI000003EE00	SNV	EDDM3A,missense_variant,p.Glu83Lys,ENST00000326842,;	374	86	88	SUCCESS
EFS	10278	.	GRCh37	14	23828142	23828142	+	synonymous_variant	Silent	SNP	C	C	T	rs754723164	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	54	0	ENST00000216733.3:c.1194G>A	p.Pro398=	p.P398=	ENST00000216733	NM_005864.3	398	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9595.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCGGGGG	NONE	.	.	Pfam_domain:PF12026,hmmpanther:PTHR10654:SF13,hmmpanther:PTHR10654	.	.	ENSP00000216733	.	5/6	.	.	.	.	.	.	.	.	rs754723164	5/6	PASS	ENST00000216733	Transcript	.	.	ENSG00000100842	16898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFS_HUMAN	EFS	HGNC	.	.	UPI0000129D21	SNV	EFS,synonymous_variant,p.%3D,ENST00000351354,;EFS,synonymous_variant,p.%3D,ENST00000216733,;EFS,synonymous_variant,p.%3D,ENST00000429593,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;	1802	54	65	SUCCESS
FANCM	57697	.	GRCh37	14	45644716	45644716	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776256629	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	124	1	ENST00000267430.5:c.2759C>T	p.Pro920Leu	p.P920L	ENST00000267430	NM_020937.2	920	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32070.1	2759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCGTGTG	NONE	byFrequency	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	14/23	.	.	.	.	.	.	.	.	rs776256629	14/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.06)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Pro894Leu,ENST00000542564,;FANCM,missense_variant,p.Pro436Leu,ENST00000556250,;FANCM,missense_variant,p.Pro920Leu,ENST00000267430,;FANCM,upstream_gene_variant,,ENST00000554809,;	2844	125	119	SUCCESS
FANCM	57697	.	GRCh37	14	45645010	45645010	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	102	0	ENST00000267430.5:c.3053A>T	p.Glu1018Val	p.E1018V	ENST00000267430	NM_020937.2	1018	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32070.1	3053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGAGAATT	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.08)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Glu992Val,ENST00000542564,;FANCM,missense_variant,p.Glu534Val,ENST00000556250,;FANCM,missense_variant,p.Glu1018Val,ENST00000267430,;FANCM,upstream_gene_variant,,ENST00000554809,;	3138	102	91	SUCCESS
PLEK2	26499	.	GRCh37	14	67864480	67864480	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	94	0	ENST00000216446.4:c.106T>A	p.Tyr36Asn	p.Y36N	ENST00000216446	NM_016445.1	36	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS9782.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTAGTACA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12092:SF2,hmmpanther:PTHR12092,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000216446	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000216446	Transcript	.	.	ENSG00000100558	19238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PLEK2_HUMAN	PLEK2	HGNC	.	.	UPI0000035D89	SNV	PLEK2,missense_variant,p.Tyr36Asn,ENST00000216446,;PLEK2,upstream_gene_variant,,ENST00000554395,;PLEK2,non_coding_transcript_exon_variant,,ENST00000557388,;PLEK2,missense_variant,p.Tyr36Asn,ENST00000553387,;PLEK2,missense_variant,p.Tyr20Asn,ENST00000555803,;	247	94	86	SUCCESS
EML5	161436	.	GRCh37	14	89105158	89105158	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	54	0	ENST00000380664.5:c.4307A>T	p.Gln1436Leu	p.Q1436L	ENST00000380664		1436	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45148.1	4331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTTGGCCA	NONE	.	.	Superfamily_domains:SSF50998,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	32/44	.	.	.	.	.	.	.	.	.	32/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Gln1398Leu,ENST00000352093,;EML5,missense_variant,p.Gln1444Leu,ENST00000554922,;EML5,missense_variant,p.Gln1436Leu,ENST00000380664,;EML5,3_prime_UTR_variant,,ENST00000553281,;EML5,3_prime_UTR_variant,,ENST00000553526,;EML5,non_coding_transcript_exon_variant,,ENST00000553962,;	4580	54	81	SUCCESS
FBLN5	10516	.	GRCh37	14	92403334	92403334	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	25	92	0	ENST00000342058.4:c.336A>T	p.Ile112=	p.I112=	ENST00000342058	NM_006329.3	112	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9898.1	336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCATATAAG	NONE	.	.	hmmpanther:PTHR24048:SF1,hmmpanther:PTHR24048,Gene3D:2.10.25.10,Superfamily_domains:SSF57184	.	.	ENSP00000345008	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000342058	Transcript	1	.	ENSG00000140092	3602	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN5_HUMAN	FBLN5	HGNC	G3V3Y2_HUMAN	.	UPI0000001070	SNV	FBLN5,synonymous_variant,p.%3D,ENST00000556154,;FBLN5,synonymous_variant,p.%3D,ENST00000342058,;FBLN5,synonymous_variant,p.%3D,ENST00000267620,;FBLN5,downstream_gene_variant,,ENST00000554468,;FBLN5,downstream_gene_variant,,ENST00000557462,;FBLN5,3_prime_UTR_variant,,ENST00000557088,;FBLN5,downstream_gene_variant,,ENST00000557570,;	930	92	126	SUCCESS
WDR76	79968	.	GRCh37	15	44120478	44120478	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	105	0	ENST00000263795.6:c.376A>T	p.Lys126Ter	p.K126*	ENST00000263795	NM_001167941.1	126	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS10106.1	376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCAAGAGA	NONE	.	.	hmmpanther:PTHR14773:SF0,hmmpanther:PTHR14773	.	.	ENSP00000263795	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000263795	Transcript	.	.	ENSG00000092470	25773	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR76_HUMAN	WDR76	HGNC	C9JE56_HUMAN	.	UPI000013D462	SNV	WDR76,stop_gained,p.Lys62Ter,ENST00000381246,;WDR76,stop_gained,p.Lys126Ter,ENST00000263795,;WDR76,stop_gained,p.Lys62Ter,ENST00000452115,;MFAP1,upstream_gene_variant,,ENST00000267812,;	446	105	86	SUCCESS
UNC13C	440279	.	GRCh37	15	54919024	54919024	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	41	0	ENST00000260323.11:c.6360-2A>T		p.X2120_splice	ENST00000260323	NM_001080534.1	2120		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45264.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACAGCATT	NONE	.	.	.	.	.	ENSP00000260323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	HIGH	31/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,splice_acceptor_variant,,ENST00000537900,;UNC13C,splice_acceptor_variant,,ENST00000545554,;UNC13C,splice_acceptor_variant,,ENST00000260323,;UNC13C,splice_acceptor_variant,,ENST00000539562,;UNC13C,downstream_gene_variant,,ENST00000560537,;	.	41	53	SUCCESS
TSC2	7249	.	GRCh37	16	2104375	2104375	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs137854010	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	78	0	ENST00000219476.3:c.415A>T	p.Arg139Trp	p.R139W	ENST00000219476	NM_000548.3	139	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10458.1	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	ACGAAAGGCTG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Gene3D:1.25.10.10,Pfam_domain:PF11864,Superfamily_domains:SSF48371	.	.	ENSP00000219476	.	5/42	.	.	.	.	.	.	.	.	rs137854010,CD993486	5/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	10735580,11112665	probably_damaging(0.997)	.	deleterious(0)	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,missense_variant,p.Arg102Trp,ENST00000439673,;TSC2,missense_variant,p.Arg64Trp,ENST00000432909,;TSC2,missense_variant,p.Arg139Trp,ENST00000219476,;TSC2,missense_variant,p.Arg139Trp,ENST00000353929,;TSC2,missense_variant,p.Arg150Trp,ENST00000568454,;TSC2,missense_variant,p.Arg139Trp,ENST00000350773,;TSC2,missense_variant,p.Arg90Trp,ENST00000382538,;TSC2,missense_variant,p.Arg139Trp,ENST00000401874,;TSC2,upstream_gene_variant,,ENST00000467949,;TSC2,non_coding_transcript_exon_variant,,ENST00000568692,;TSC2,intron_variant,,ENST00000439117,;TSC2,downstream_gene_variant,,ENST00000461648,;	1045	78	72	SUCCESS
COG7	91949	.	GRCh37	16	23436070	23436070	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs766070661	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	104	0	ENST00000307149.5:c.1009C>T	p.His337Tyr	p.H337Y	ENST00000307149	NM_153603.3	337	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS10610.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACGTAGGT	NONE	.	.	hmmpanther:PTHR21443,Pfam_domain:PF10191	.	.	ENSP00000305442	.	7/17	.	.	.	.	.	.	.	.	rs766070661	7/17	PASS	ENST00000307149	Transcript	.	.	ENSG00000168434	18622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	COG7_HUMAN	COG7	HGNC	.	.	UPI0000127E42	SNV	COG7,missense_variant,p.His337Tyr,ENST00000307149,;	1195	104	89	SUCCESS
MYLK3	91807	.	GRCh37	16	46781875	46781875	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	56	0	ENST00000394809.4:c.231G>A	p.Gly77=	p.G77=	ENST00000394809	NM_182493.2	77	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10723.2	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCCCGCC	NONE	.	.	.	.	.	ENSP00000378288	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000394809	Transcript	.	.	ENSG00000140795	29826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYLK3_HUMAN	MYLK3	HGNC	.	.	UPI000059D380	SNV	MYLK3,synonymous_variant,p.%3D,ENST00000394809,;MYLK3,intron_variant,,ENST00000536476,;MYLK3,intron_variant,,ENST00000569810,;	347	56	53	SUCCESS
RBFOX1	54715	.	GRCh37	16	7657284	7657284	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	rs767289951	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	110	0	ENST00000547338.1:c.623-3A>T		p.X208_splice	ENST00000547338	NM_001142334.1	208		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10531.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTAAGGCT	NONE	byFrequency	.	.	.	.	ENSP00000309117	.	.	.	.	.	.	.	.	.	.	rs767289951	.	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	LOW	6/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,splice_region_variant,,ENST00000553186,;RBFOX1,splice_region_variant,,ENST00000535565,;RBFOX1,splice_region_variant,,ENST00000552089,;RBFOX1,splice_region_variant,,ENST00000355637,;RBFOX1,splice_region_variant,,ENST00000551752,;RBFOX1,splice_region_variant,,ENST00000340209,;RBFOX1,splice_region_variant,,ENST00000547605,;RBFOX1,splice_region_variant,,ENST00000547338,;RBFOX1,splice_region_variant,,ENST00000311745,;RBFOX1,splice_region_variant,,ENST00000436368,;RBFOX1,splice_region_variant,,ENST00000422070,;RBFOX1,splice_region_variant,,ENST00000550418,;RBFOX1,splice_region_variant,,ENST00000547372,;RBFOX1,splice_region_variant,,ENST00000564850,;	.	110	81	SUCCESS
KCNG4	93107	.	GRCh37	16	84270539	84270539	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	81	0	ENST00000308251.4:c.553A>T	p.Arg185Trp	p.R185W	ENST00000308251	NM_172347.2	185	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10945.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTCAGTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF89	.	.	ENSP00000312129	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000308251	Transcript	.	.	ENSG00000168418	19697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0.01)	.	KCNG4_HUMAN	KCNG4	HGNC	Q547S7_HUMAN	.	UPI00000557D8	SNV	KCNG4,missense_variant,p.Arg185Trp,ENST00000568181,;KCNG4,missense_variant,p.Arg185Trp,ENST00000308251,;	622	82	50	SUCCESS
ZNF469	84627	.	GRCh37	16	88494260	88494260	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	73	0	ENST00000437464.1:c.382A>T	p.Arg128Trp	p.R128W	ENST00000437464	NM_001127464.1	128	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS45544.1	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGAGGACC	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.692)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Arg128Trp,ENST00000565624,;ZNF469,missense_variant,p.Arg128Trp,ENST00000437464,;	382	73	59	SUCCESS
FOXN1	8456	.	GRCh37	17	26857852	26857852	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	32	115	0	ENST00000226247.2:c.916C>T	p.Pro306Ser	p.P306S	ENST00000226247	NM_003593.2	306	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11232.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCCTTAC	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF71,hmmpanther:PTHR11829,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000226247	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000226247	Transcript	.	.	ENSG00000109101	12765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FOXN1_HUMAN	FOXN1	HGNC	J3KRT9_HUMAN	.	UPI000012ADE6	SNV	FOXN1,missense_variant,p.Pro306Ser,ENST00000579795,;FOXN1,missense_variant,p.Pro306Ser,ENST00000226247,;RP11-192H23.4,intron_variant,,ENST00000481916,;	945	115	123	SUCCESS
FOXN1	8456	.	GRCh37	17	26861766	26861766	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1309137247	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	22	106	0	ENST00000226247.2:c.1177G>C	p.Gly393Arg	p.G393R	ENST00000226247	NM_003593.2	393	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS11232.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF71,hmmpanther:PTHR11829	.	.	ENSP00000226247	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000226247	Transcript	.	.	ENSG00000109101	12765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	FOXN1_HUMAN	FOXN1	HGNC	J3KRT9_HUMAN	.	UPI000012ADE6	SNV	FOXN1,missense_variant,p.Gly393Arg,ENST00000579795,;FOXN1,missense_variant,p.Gly393Arg,ENST00000226247,;RP11-192H23.4,intron_variant,,ENST00000481916,;	1206	106	119	SUCCESS
PIGS	94005	.	GRCh37	17	26888503	26888503	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	55	0	ENST00000308360.7:c.613G>A	p.Ala205Thr	p.A205T	ENST00000308360	NM_033198.3	205	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11235.1	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCCAGAG	NONE	.	.	Pfam_domain:PF10510,hmmpanther:PTHR21072	.	.	ENSP00000309430	.	6/12	.	.	.	.	.	.	.	.	COSM1730500	6/12	PASS	ENST00000308360	Transcript	.	.	ENSG00000087111	14937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.063)	.	tolerated(0.07)	1	PIGS_HUMAN	PIGS	HGNC	Q9BVC1_HUMAN,Q96IR5_HUMAN,F5H019_HUMAN	.	UPI000013D7D9	SNV	PIGS,missense_variant,p.Ala197Thr,ENST00000395346,;PIGS,missense_variant,p.Ala205Thr,ENST00000308360,;PIGS,missense_variant,p.Ala144Thr,ENST00000543734,;PIGS,non_coding_transcript_exon_variant,,ENST00000465444,;PIGS,intron_variant,,ENST00000580968,;PIGS,downstream_gene_variant,,ENST00000584413,;PIGS,3_prime_UTR_variant,,ENST00000268758,;PIGS,non_coding_transcript_exon_variant,,ENST00000577620,;PIGS,non_coding_transcript_exon_variant,,ENST00000582615,;RP11-192H23.4,intron_variant,,ENST00000481916,;PIGS,intron_variant,,ENST00000584080,;PIGS,downstream_gene_variant,,ENST00000582721,;PIGS,downstream_gene_variant,,ENST00000577594,;PIGS,upstream_gene_variant,,ENST00000484580,;PIGS,upstream_gene_variant,,ENST00000492429,;PIGS,upstream_gene_variant,,ENST00000487231,;PIGS,downstream_gene_variant,,ENST00000583631,;	989	55	61	SUCCESS
SLC6A4	6532	.	GRCh37	17	28548654	28548654	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	66	0	ENST00000261707.3:c.323T>A	p.Ile108Lys	p.I108K	ENST00000261707	NM_001045.5	108	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS11256.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATATGTAG	NONE	.	.	Prints_domain:PR00176,Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_patterns:PS00610,hmmpanther:PTHR11616:SF105,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000385822	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000401766	Transcript	.	.	ENSG00000108576	11050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0)	.	SC6A4_HUMAN	SLC6A4	HGNC	Q9NYN7_HUMAN,J3KPR9_HUMAN,B3VRW0_HUMAN,B3VRV5_HUMAN,B3VRV0_HUMAN,B3VRU5_HUMAN,B3VRU0_HUMAN,B3VRS5_HUMAN,B3VRS0_HUMAN,B3VRR5_HUMAN,B3VRR0_HUMAN,B3VRQ5_HUMAN,B3VRQ0_HUMAN	.	UPI0000135493	SNV	SLC6A4,missense_variant,p.Ile108Lys,ENST00000261707,;SLC6A4,missense_variant,p.Ile108Lys,ENST00000394821,;SLC6A4,missense_variant,p.Ile108Lys,ENST00000401766,;	836	66	57	SUCCESS
SPACA3	124912	.	GRCh37	17	31322727	31322727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	24	74	0	ENST00000269053.3:c.335T>A	p.Leu112Gln	p.L112Q	ENST00000269053	NM_173847.3	112	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11275.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTGGCTG	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407:SF25,hmmpanther:PTHR11407,Pfam_domain:PF00062,Gene3D:1.10.530.10,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00135	.	.	ENSP00000269053	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000269053	Transcript	.	.	ENSG00000141316	16260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	SACA3_HUMAN	SPACA3	HGNC	.	.	UPI00000361ED	SNV	SPACA3,missense_variant,p.Leu112Gln,ENST00000269053,;SPACA3,missense_variant,p.Leu43Gln,ENST00000580599,;SPACA3,intron_variant,,ENST00000394638,;SPACA3,non_coding_transcript_exon_variant,,ENST00000485015,;SPACA3,non_coding_transcript_exon_variant,,ENST00000394637,;	405	74	111	SUCCESS
FNDC8	54752	.	GRCh37	17	33454263	33454263	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776873967	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	16	59	0	ENST00000158009.5:c.412G>T	p.Gly138Cys	p.G138C	ENST00000158009	NM_017559.2	138	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS11290.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCGGCCCC	NONE	byFrequency	.	hmmpanther:PTHR32430	.	.	ENSP00000158009	.	2/4	.	.	.	.	.	.	.	.	rs776873967	2/4	PASS	ENST00000158009	Transcript	.	.	ENSG00000073598	25286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	tolerated_low_confidence(0.09)	.	FNDC8_HUMAN	FNDC8	HGNC	.	.	UPI000006D671	SNV	FNDC8,missense_variant,p.Gly138Cys,ENST00000158009,;NLE1,downstream_gene_variant,,ENST00000586869,;NLE1,downstream_gene_variant,,ENST00000442241,;NLE1,downstream_gene_variant,,ENST00000360831,;NLE1,downstream_gene_variant,,ENST00000588019,;	527	59	108	SUCCESS
KRTAP9-9	81870	.	GRCh37	17	39411680	39411680	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	54	0	ENST00000394008.1:c.43A>T	p.Arg15Trp	p.R15W	ENST00000394008	NM_030975.2	15	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54127.1	43	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCAGGACC	BUFFER|p.C18_W19insCRTTC|c.33_34ins15|8	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF36,hmmpanther:PTHR23262	.	.	ENSP00000377576	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394008	Transcript	.	.	ENSG00000198083	16773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	.	KRTAP9-9	HGNC	B5MDD6_HUMAN	.	UPI00002264BA	SNV	KRTAP9-9,missense_variant,p.Arg15Trp,ENST00000394008,;KRTAP9-4,downstream_gene_variant,,ENST00000334109,;	45	54	48	SUCCESS
KRT33B	3884	.	GRCh37	17	39525975	39525975	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	31	136	0	ENST00000251646.3:c.28C>A	p.Leu10Met	p.L10M	ENST00000251646	NM_002279.4	10	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS11389.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	.	.	ENSP00000251646	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000251646	Transcript	.	.	ENSG00000131738	6451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.27)	.	KT33B_HUMAN	KRT33B	HGNC	.	.	UPI000012DAFE	SNV	KRT33B,missense_variant,p.Leu10Met,ENST00000251646,;	78	136	142	SUCCESS
DHX8	1659	.	GRCh37	17	41582192	41582192	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	26	95	0	ENST00000262415.3:c.1727A>T	p.Gln576Leu	p.Q576L	ENST00000262415	NM_004941.1	576	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS11464.1	1727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAGGTGA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF85,hmmpanther:PTHR18934,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000262415	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000262415	Transcript	.	.	ENSG00000067596	2749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.03)	.	DHX8_HUMAN	DHX8	HGNC	.	.	UPI00001290D9	SNV	DHX8,missense_variant,p.Gln576Leu,ENST00000540306,;DHX8,missense_variant,p.Gln576Leu,ENST00000262415,;DHX8,splice_region_variant,,ENST00000587044,;	1799	95	148	SUCCESS
ASB16	92591	.	GRCh37	17	42249420	42249420	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	33	0	ENST00000293414.1:c.308G>C	p.Trp103Ser	p.W103S	ENST00000293414	NM_080863.4	103	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS11478.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTGGGTGC	NONE	.	.	hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF2,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000293414	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000293414	Transcript	.	.	ENSG00000161664	19768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ASB16_HUMAN	ASB16	HGNC	K7EM41_HUMAN	.	UPI000013E105	SNV	ASB16,missense_variant,p.Trp103Ser,ENST00000293414,;ASB16,missense_variant,p.Trp19Ser,ENST00000591700,;ASB16-AS1,downstream_gene_variant,,ENST00000585457,;ASB16-AS1,downstream_gene_variant,,ENST00000588785,;ASB16-AS1,downstream_gene_variant,,ENST00000591166,;ASB16,missense_variant,p.Trp103Ser,ENST00000589618,;	392	33	46	SUCCESS
SLC4A1	6521	.	GRCh37	17	42327879	42327879	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	56	0	ENST00000262418.6:c.2683T>A	p.Phe895Ile	p.F895I	ENST00000262418	NM_000342.3	895	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11481.1	2683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAAGGTTG	NONE	.	.	hmmpanther:PTHR11453:SF12,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834	.	.	ENSP00000262418	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000262418	Transcript	.	.	ENSG00000004939	11027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.365)	.	deleterious(0.05)	.	B3AT_HUMAN	SLC4A1	HGNC	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN	.	UPI00000375B8	SNV	SLC4A1,missense_variant,p.Phe895Ile,ENST00000262418,;AC003102.1,upstream_gene_variant,,ENST00000399246,;	2839	56	49	SUCCESS
SLC4A1	6521	.	GRCh37	17	42335828	42335828	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	88	0	ENST00000262418.6:c.1040A>T	p.Tyr347Phe	p.Y347F	ENST00000262418	NM_000342.3	347	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS11481.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGATAGCGC	BUFFER|p.R344*|c.1030C>T|3	.	.	hmmpanther:PTHR11453:SF12,hmmpanther:PTHR11453,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804	.	.	ENSP00000262418	.	10/20	.	.	.	.	.	.	.	.	COSM1288021	10/20	PASS	ENST00000262418	Transcript	.	.	ENSG00000004939	11027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.044)	.	tolerated(0.6)	1	B3AT_HUMAN	SLC4A1	HGNC	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN	.	UPI00000375B8	SNV	SLC4A1,missense_variant,p.Tyr347Phe,ENST00000262418,;AC003043.1,intron_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	1196	88	120	SUCCESS
KCNH6	81033	.	GRCh37	17	61623092	61623092	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	84	0	ENST00000583023.1:c.2814T>A	p.Pro938=	p.P938=	ENST00000583023	NM_030779.3	938	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11638.1	2814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTGAGGG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	.	.	ENSP00000463533	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,synonymous_variant,p.%3D,ENST00000583023,;KCNH6,synonymous_variant,p.%3D,ENST00000456941,;KCNH6,synonymous_variant,p.%3D,ENST00000581784,;KCNH6,synonymous_variant,p.%3D,ENST00000314672,;DCAF7,upstream_gene_variant,,ENST00000310827,;DCAF7,upstream_gene_variant,,ENST00000431926,;DCAF7,upstream_gene_variant,,ENST00000415273,;DCAF7,upstream_gene_variant,,ENST00000582274,;DCAF7,upstream_gene_variant,,ENST00000582103,;DCAF7,upstream_gene_variant,,ENST00000585252,;DCAF7,upstream_gene_variant,,ENST00000577702,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	2825	84	62	SUCCESS
HELZ	9931	.	GRCh37	17	65186459	65186459	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	24	78	0	ENST00000358691.5:c.570A>T	p.Gln190His	p.Q190H	ENST00000358691	NM_014877.3	190	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS42374.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCTTGTTC	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887,Pfam_domain:PF00642,Gene3D:1m9oA00,SMART_domains:SM00356,Superfamily_domains:SSF90229	.	.	ENSP00000351524	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0.02)	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Gln190His,ENST00000580168,;HELZ,missense_variant,p.Gln190His,ENST00000358691,;HELZ,upstream_gene_variant,,ENST00000578783,;HELZ,non_coding_transcript_exon_variant,,ENST00000580662,;HELZ,upstream_gene_variant,,ENST00000578938,;HELZ,missense_variant,p.Gln190His,ENST00000417253,;HELZ,missense_variant,p.Gln190His,ENST00000579953,;HELZ,upstream_gene_variant,,ENST00000582864,;	737	78	134	SUCCESS
KPNA2	3838	.	GRCh37	17	66041902	66041902	+	synonymous_variant	Silent	SNP	A	A	T	rs782100945	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	12	0	ENST00000330459.3:c.1362A>T	p.Leu454=	p.L454=	ENST00000330459	NM_002266.2	454	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32713.1	1362	RADIA|MUTECT|VARSCANS	.	AAACTAGGTGA	NONE	byFrequency	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,hmmpanther:PTHR23316:SF12,hmmpanther:PTHR23316	.	.	ENSP00000438483	.	10/11	.	.	.	.	.	.	.	.	rs782100945	10/11	PASS	ENST00000537025	Transcript	.	.	ENSG00000182481	6395	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IMA1_HUMAN	KPNA2	HGNC	J3QLL0_HUMAN,J3KS65_HUMAN	.	UPI000012D5F6	SNV	KPNA2,synonymous_variant,p.%3D,ENST00000537025,;KPNA2,synonymous_variant,p.%3D,ENST00000330459,;KPNA2,downstream_gene_variant,,ENST00000579754,;KPNA2,downstream_gene_variant,,ENST00000584026,;KPNA2,non_coding_transcript_exon_variant,,ENST00000582898,;KPNA2,downstream_gene_variant,,ENST00000583392,;KPNA2,downstream_gene_variant,,ENST00000583269,;	1982	12	30	SUCCESS
KCNJ2	3759	.	GRCh37	17	68171897	68171897	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs943311933	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	51	0	ENST00000243457.3:c.717A>T	p.Glu239Asp	p.E239D	ENST00000243457	NM_000891.2	239	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS11688.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAAGGGGA	NONE	.	.	hmmpanther:PTHR11767:SF43,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,missense_variant,p.Glu239Asp,ENST00000535240,;KCNJ2,missense_variant,p.Glu239Asp,ENST00000243457,;	1100	51	86	SUCCESS
LLGL2	3993	.	GRCh37	17	73566301	73566301	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	57	0	ENST00000392550.3:c.1839C>T	p.Leu613=	p.L613=	ENST00000392550	NM_001031803.1	613	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32733.1	1839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCTTTGA	NONE	.	.	hmmpanther:PTHR10241:SF20,hmmpanther:PTHR10241,Prints_domain:PR00962	.	.	ENSP00000376333	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000392550	Transcript	.	.	ENSG00000073350	6629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L2GL2_HUMAN	LLGL2	HGNC	J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN	.	UPI00005905A8	SNV	LLGL2,synonymous_variant,p.%3D,ENST00000577200,;LLGL2,synonymous_variant,p.%3D,ENST00000167462,;LLGL2,synonymous_variant,p.%3D,ENST00000392550,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,3_prime_UTR_variant,,ENST00000578719,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000579092,;	1956	57	58	SUCCESS
EXOC7	23265	.	GRCh37	17	74083767	74083767	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	37	0	ENST00000335146.7:c.1550A>T	p.Gln517Leu	p.Q517L	ENST00000335146		517	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45782.1	1550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGGAAG	NONE	.	.	Superfamily_domains:SSF74788,Pfam_domain:PF03081,hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	.	.	ENSP00000334100	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	tolerated(0.72)	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,missense_variant,p.Gln466Leu,ENST00000589210,;EXOC7,missense_variant,p.Gln421Leu,ENST00000357231,;EXOC7,missense_variant,p.Gln435Leu,ENST00000332065,;EXOC7,missense_variant,p.Gln517Leu,ENST00000335146,;EXOC7,missense_variant,p.Gln425Leu,ENST00000467929,;EXOC7,missense_variant,p.Gln458Leu,ENST00000411744,;EXOC7,missense_variant,p.Gln489Leu,ENST00000405575,;EXOC7,missense_variant,p.Gln489Leu,ENST00000607838,;EXOC7,upstream_gene_variant,,ENST00000591724,;EXOC7,3_prime_UTR_variant,,ENST00000592559,;EXOC7,non_coding_transcript_exon_variant,,ENST00000486053,;EXOC7,non_coding_transcript_exon_variant,,ENST00000494787,;EXOC7,non_coding_transcript_exon_variant,,ENST00000467586,;EXOC7,non_coding_transcript_exon_variant,,ENST00000460476,;EXOC7,upstream_gene_variant,,ENST00000465252,;ZACN,downstream_gene_variant,,ENST00000590045,;ZACN,downstream_gene_variant,,ENST00000425015,;EXOC7,downstream_gene_variant,,ENST00000405068,;	1604	37	21	SUCCESS
EXOC7	23265	.	GRCh37	17	74087274	74087274	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	100	0	ENST00000335146.7:c.851A>T	p.Gln284Leu	p.Q284L	ENST00000335146		284	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45782.1	851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGGGAA	NONE	.	.	hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	.	.	ENSP00000334100	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.14)	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,missense_variant,p.Gln284Leu,ENST00000335146,;EXOC7,missense_variant,p.Gln243Leu,ENST00000467929,;EXOC7,missense_variant,p.Gln284Leu,ENST00000589210,;EXOC7,missense_variant,p.Gln284Leu,ENST00000405575,;EXOC7,missense_variant,p.Gln284Leu,ENST00000607838,;EXOC7,missense_variant,p.Gln239Leu,ENST00000357231,;EXOC7,intron_variant,,ENST00000332065,;EXOC7,intron_variant,,ENST00000411744,;EXOC7,downstream_gene_variant,,ENST00000420116,;EXOC7,intron_variant,,ENST00000592559,;EXOC7,upstream_gene_variant,,ENST00000486053,;EXOC7,upstream_gene_variant,,ENST00000494787,;EXOC7,upstream_gene_variant,,ENST00000467586,;EXOC7,downstream_gene_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000460476,;	905	100	82	SUCCESS
TP53	7157	.	GRCh37	17	7577569	7577569	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1057519981	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	80	0	ENST00000269305.4:c.712T>C	p.Cys238Arg	p.C238R	ENST00000269305	NM_001126112.2	238	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS11118.1	712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACACATGT	SITE|p.C238R|c.712T>C|17,CODON|p.0?|c.1_1182del1182|6,CODON|p.C238*|c.714T>A|4,CODON|p.C238W|c.714T>G|3,CODON|p.C238Y|c.713G>A|7,CODON|p.C238F|c.713G>T|12,CODON|p.C145F|c.434G>T|12,CODON|p.C238Y|c.713G>A|16,CODON|p.C238F|c.713G>T|11,CODON|p.C238Y|c.713G>A|15,CODON|p.C238Y|c.713G>A|65,CODON|p.C238F|c.713G>T|42,CODON|p.C238Y|c.713G>A|9,CODON|p.C238F|c.713G>T|6,CODON|p.C145Y|c.434G>A|16,CODON|p.C238F|c.713G>T|6,CODON|p.C238S|c.713G>C|8,BUFFER|p.N239_C242delNSSC|c.715_726del12|3,BUFFER|p.C242fs*5|c.723delC|5,BUFFER|p.C149fs*5|c.444delC|5,BUFFER|p.C242fs*5|c.723delC|12,BUFFER|p.S241delS|c.721_723delTCC|3,BUFFER|p.C242fs*5|c.723delC|5,BUFFER|p.S241F|c.722_723CC>TT|5,BUFFER|p.C242fs*5|c.722delC|6,BUFFER|p.S241fs*6|c.721delT|9,BUFFER|p.S148F|c.443C>T|15,BUFFER|p.S241Y|c.722C>A|4,BUFFER|p.S241Y|c.722C>A|15,BUFFER|p.S241C|c.722C>G|28,BUFFER|p.S241C|c.722C>G|3,BUFFER|p.S148Y|c.443C>A|5,BUFFER|p.S241F|c.722C>T|15,BUFFER|p.S241F|c.722C>T|6,BUFFER|p.S241F|c.722C>T|83,BUFFER|p.S241C|c.722C>G|4,BUFFER|p.S241Y|c.722C>A|4,BUFFER|p.S241Y|c.722C>A|5,BUFFER|p.S241Y|c.722C>A|5,BUFFER|p.S148C|c.443C>G|4,BUFFER|p.S241F|c.722C>T|9,BUFFER|p.S241F|c.722C>T|14,BUFFER|p.S241T|c.721T>A|6,BUFFER|p.S241A|c.721T>G|10,BUFFER|p.S241P|c.721T>C|5,BUFFER|p.S240R|c.720T>A|4,BUFFER|p.S240R|c.720T>G|4,BUFFER|p.S240S|c.720T>C|3,BUFFER|p.S240I|c.719G>T|6,BUFFER|p.S240C|c.718A>T|3,BUFFER|p.S240G|c.718A>G|16,BUFFER|p.N239K|c.717C>G|5,BUFFER|p.N146S|c.437A>G|6,BUFFER|p.N239T|c.716A>C|6,BUFFER|p.N239S|c.716A>G|3,BUFFER|p.N239S|c.716A>G|6,BUFFER|p.N239S|c.716A>G|4,BUFFER|p.N239S|c.716A>G|25,BUFFER|p.N239S|c.716A>G|5,BUFFER|p.N239D|c.715A>G|11,BUFFER|p.N239D|c.715A>G|13,BUFFER|p.N239D|c.715A>G|44,BUFFER|p.N146D|c.436A>G|14,BUFFER|p.N239Y|c.715A>T|6,BUFFER|p.N239D|c.715A>G|14,BUFFER|p.N239fs*1|c.714_715insT|3,BUFFER|p.N239fs*25|c.714_715insN|12,BUFFER|p.N239fs*1|c.714_715insT|4,BUFFER|p.N239fs*1|c.714_715insT|3,BUFFER|p.N146fs*1|c.435_436insT|3,BUFFER|p.C238G|c.712T>G|3,BUFFER|p.C145G|c.433T>G|3,BUFFER|p.C238G|c.712T>G|4,BUFFER|p.C238G|c.712T>G|3,BUFFER|p.C238S|c.712T>A|12,BUFFER|p.M237I|c.711G>A|15,BUFFER|p.M237I|c.711G>T|7,BUFFER|p.M237I|c.711G>C|9,BUFFER|p.M237I|c.711G>A|78,BUFFER|p.M237I|c.711G>T|3,BUFFER|p.M237I|c.711G>A|10,BUFFER|p.M237I|c.711G>T|31,BUFFER|p.M144I|c.432G>T|7,BUFFER|p.M237I|c.711G>A|15,BUFFER|p.M237I|c.711G>T|6,BUFFER|p.M237I|c.711G>T|7,BUFFER|p.M144I|c.432G>A|15,BUFFER|p.M237I|c.711G>A|9,BUFFER|p.M237K|c.710T>A|9,BUFFER|p.M237R|c.710T>G|3,BUFFER|p.M237T|c.710T>C|3,BUFFER|p.M144T|c.431T>C|3,BUFFER|p.M237T|c.710T>C|3,BUFFER|p.M237T|c.710T>C|5,BUFFER|p.M144V|c.430A>G|3,BUFFER|p.M237V|c.709A>G|3,BUFFER|p.M237V|c.709A>G|3,BUFFER|p.M237L|c.709A>T|4,BUFFER|p.M237V|c.709A>G|10,BUFFER|p.Y236delY|c.706_708delTAC|4,BUFFER|p.Y236*|c.708C>G|3,BUFFER|p.Y143*|c.429C>A|4,BUFFER|p.Y236*|c.708C>A|4,BUFFER|p.Y236*|c.708C>A|4,BUFFER|p.Y236*|c.708C>A|11,BUFFER|p.Y236C|c.707A>G|5,BUFFER|p.Y236C|c.707A>G|4,BUFFER|p.Y236C|c.707A>G|11,BUFFER|p.Y236C|c.707A>G|55,BUFFER|p.Y143C|c.428A>G|12,BUFFER|p.Y236C|c.707A>G|11,BUFFER|p.Y236S|c.707A>C|4,BUFFER|p.Y236N|c.706T>A|3,BUFFER|p.Y236N|c.706T>A|16,BUFFER|p.Y236D|c.706T>G|7,BUFFER|p.Y236H|c.706T>C|10,BUFFER|p.Y143N|c.427T>A|3,BUFFER|p.Y236N|c.706T>A|3,BUFFER|p.N235T|c.704A>C|3,BUFFER|p.N235I|c.704A>T|4,BUFFER|p.N235S|c.704A>G|15,BUFFER|p.N235D|c.703A>G|7,BUFFER|p.Y234delY|c.700_702delTAC|3,BUFFER|p.Y234*|c.702C>A|4,BUFFER|p.Y234S|c.701A>C|6,BUFFER|p.Y234C|c.701A>G|11,BUFFER|p.Y141C|c.422A>G|21,BUFFER|p.Y234C|c.701A>G|89,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|21,BUFFER|p.Y234C|c.701A>G|6	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	CM056070,CM025271,TP53_g.13349T>C,TP53_g.13349T>G,TP53_g.13349T>A,TP53_g.13349del,COSM43700,COSM44321,COSM46336,COSM44432,COSM1386628,COSM131450,COSM1386629,COSM131451,COSM4139867,COSM3937609,COSM3937608,COSM4139866,COSM131452,COSM1386630	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Cys238Arg,ENST00000413465,;TP53,missense_variant,p.Cys238Arg,ENST00000420246,;TP53,missense_variant,p.Cys238Arg,ENST00000269305,;TP53,missense_variant,p.Cys106Arg,ENST00000509690,;TP53,missense_variant,p.Cys238Arg,ENST00000359597,;TP53,missense_variant,p.Cys145Arg,ENST00000514944,;TP53,missense_variant,p.Cys238Arg,ENST00000445888,;TP53,missense_variant,p.Cys238Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	902	80	57	SUCCESS
LAMA3	3909	.	GRCh37	18	21422660	21422660	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	31	131	0	ENST00000313654.9:c.3549A>T	p.Ser1183=	p.S1183=	ENST00000313654	NM_198129.1	1183	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS42419.1	3549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCAGAGCC	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	29/75	.	.	.	.	.	.	.	.	.	29/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,synonymous_variant,p.%3D,ENST00000313654,;LAMA3,synonymous_variant,p.%3D,ENST00000399516,;	3790	131	121	SUCCESS
SMCHD1	23347	.	GRCh37	18	2784472	2784472	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	33	135	0	ENST00000320876.6:c.5572A>T	p.Thr1858Ser	p.T1858S	ENST00000320876	NM_015295.2	1858	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS45822.1	5572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTACACTG	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640,Superfamily_domains:0038317	.	.	ENSP00000326603	.	45/48	.	.	.	.	.	.	.	.	.	45/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,missense_variant,p.Thr1858Ser,ENST00000320876,;SMCHD1,missense_variant,p.Thr1858Ser,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Thr1329Ser,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;	5910	135	160	SUCCESS
KLHL14	57565	.	GRCh37	18	30350114	30350114	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	40	146	0	ENST00000359358.4:c.441G>A	p.Val147=	p.V147=	ENST00000359358	NM_020805.1	147	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32813.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCACGTT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60,PROSITE_profiles:PS50097	.	.	ENSP00000352314	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000359358	Transcript	.	.	ENSG00000197705	29266	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH14_HUMAN	KLHL14	HGNC	.	.	UPI00001C1FF2	SNV	KLHL14,synonymous_variant,p.%3D,ENST00000583263,;KLHL14,synonymous_variant,p.%3D,ENST00000358095,;KLHL14,synonymous_variant,p.%3D,ENST00000359358,;AC012123.1,intron_variant,,ENST00000426194,;	880	146	202	SUCCESS
ZBTB7C	201501	.	GRCh37	18	45566767	45566767	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	65	0	ENST00000535628.2:c.712A>T	p.Lys238Ter	p.K238*	ENST00000535628	NM_001039360.2	238	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS32830.1	712	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTTGGGGT	BUFFER|p.A239S|c.715G>T|4	.	.	hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389	.	.	ENSP00000468782	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000588982	Transcript	.	.	ENSG00000184828	31700	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZBT7C_HUMAN	ZBTB7C	HGNC	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN	.	UPI0000073FE3	SNV	ZBTB7C,stop_gained,p.Lys238Ter,ENST00000590800,;ZBTB7C,stop_gained,p.Lys238Ter,ENST00000535628,;ZBTB7C,stop_gained,p.Lys238Ter,ENST00000586438,;ZBTB7C,stop_gained,p.Lys238Ter,ENST00000332053,;ZBTB7C,stop_gained,p.Lys238Ter,ENST00000588982,;ZBTB7C,downstream_gene_variant,,ENST00000590437,;ZBTB7C,downstream_gene_variant,,ENST00000590855,;ZBTB7C,downstream_gene_variant,,ENST00000591279,;ZBTB7C,downstream_gene_variant,,ENST00000590374,;ZBTB7C,downstream_gene_variant,,ENST00000591526,;ZBTB7C,downstream_gene_variant,,ENST00000586047,;ZBTB7C,downstream_gene_variant,,ENST00000592656,;ZBTB7C,downstream_gene_variant,,ENST00000593159,;ZBTB7C,downstream_gene_variant,,ENST00000589619,;ZBTB7C,downstream_gene_variant,,ENST00000589170,;ZBTB7C,downstream_gene_variant,,ENST00000591405,;ZBTB7C,downstream_gene_variant,,ENST00000588053,;ZBTB7C,downstream_gene_variant,,ENST00000589077,;ZBTB7C,downstream_gene_variant,,ENST00000588970,;ZBTB7C,downstream_gene_variant,,ENST00000588566,;ZBTB7C,downstream_gene_variant,,ENST00000585404,;ZBTB7C,downstream_gene_variant,,ENST00000588149,;ZBTB7C,downstream_gene_variant,,ENST00000587107,;ZBTB7C,downstream_gene_variant,,ENST00000592387,;ZBTB7C,downstream_gene_variant,,ENST00000589194,;ZBTB7C,downstream_gene_variant,,ENST00000586743,;ZBTB7C,downstream_gene_variant,,ENST00000590178,;ZBTB7C,downstream_gene_variant,,ENST00000588028,;ZBTB7C,downstream_gene_variant,,ENST00000586525,;	1214	65	80	SUCCESS
ZNF532	55205	.	GRCh37	18	56651265	56651265	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	48	248	0	ENST00000336078.4:c.3473C>T	p.Ala1158Val	p.A1158V	ENST00000336078	NM_018181.4	1158	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11969.1	3473	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCAATCA	NONE	.	.	hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374	.	.	ENSP00000338217	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000336078	Transcript	.	.	ENSG00000074657	30940	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.354)	.	deleterious(0.02)	.	ZN532_HUMAN	ZNF532	HGNC	K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN	.	UPI000013D30C	SNV	ZNF532,missense_variant,p.Ala1158Val,ENST00000591230,;ZNF532,missense_variant,p.Ala1158Val,ENST00000591808,;ZNF532,missense_variant,p.Ala1158Val,ENST00000589288,;ZNF532,missense_variant,p.Ala1158Val,ENST00000591083,;ZNF532,missense_variant,p.Ala1158Val,ENST00000336078,;ZNF532,downstream_gene_variant,,ENST00000586997,;ZNF532,non_coding_transcript_exon_variant,,ENST00000588956,;ZNF532,non_coding_transcript_exon_variant,,ENST00000592249,;ZNF532,non_coding_transcript_exon_variant,,ENST00000589131,;ZNF532,non_coding_transcript_exon_variant,,ENST00000590442,;ZNF532,downstream_gene_variant,,ENST00000586723,;ZNF532,downstream_gene_variant,,ENST00000585662,;	4249	248	263	SUCCESS
CDH20	28316	.	GRCh37	18	59217403	59217403	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	69	0	ENST00000262717.4:c.1841C>T	p.Pro614Leu	p.P614L	ENST00000262717		614	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11977.1	1841	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCAGTCA	NONE	.	.	hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027	.	.	ENSP00000262717	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000262717	Transcript	.	.	ENSG00000101542	1760	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	CAD20_HUMAN	CDH20	HGNC	Q8N9J3_HUMAN,K7ESP2_HUMAN	.	UPI000013D30D	SNV	CDH20,missense_variant,p.Pro614Leu,ENST00000538374,;CDH20,missense_variant,p.Pro614Leu,ENST00000536675,;CDH20,missense_variant,p.Pro614Leu,ENST00000262717,;CDH20,missense_variant,p.Pro11Leu,ENST00000587582,;	2239	69	62	SUCCESS
CDH19	28513	.	GRCh37	18	64172081	64172081	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	88	0	ENST00000262150.2:c.2287A>T	p.Met763Leu	p.M763L	ENST00000262150	NM_021153.3	763	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS11994.1	2287	RADIA|MUTECT|MUSE	.	AAACATGCATG	NONE	.	.	hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000262150	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.102)	.	tolerated(0.65)	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,missense_variant,p.Met763Leu,ENST00000262150,;CDH19,downstream_gene_variant,,ENST00000540086,;CDH19,3_prime_UTR_variant,,ENST00000579658,;	2580	88	91	SUCCESS
CDH19	28513	.	GRCh37	18	64172083	64172083	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	87	0	ENST00000262150.2:c.2285G>T	p.Cys762Phe	p.C762F	ENST00000262150	NM_021153.3	762	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS11994.1	2285	RADIA|MUTECT|MUSE	.	ACATGCATGCT	NONE	.	.	hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000262150	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.219)	.	deleterious(0.01)	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,missense_variant,p.Cys762Phe,ENST00000262150,;CDH19,downstream_gene_variant,,ENST00000540086,;CDH19,3_prime_UTR_variant,,ENST00000579658,;	2578	87	91	SUCCESS
LAMA1	284217	.	GRCh37	18	6956644	6956644	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	36	0	ENST00000389658.3:c.8085G>A	p.Arg2695=	p.R2695=	ENST00000389658	NM_005559.3	2695	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32787.1	8085	MUTECT|MUSE	.	AAAGCCCGGGG	NONE	.	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574	.	.	ENSP00000374309	.	56/63	.	.	.	.	.	.	.	.	.	56/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;RP11-781P6.1,non_coding_transcript_exon_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000492048,;	8179	36	33	SUCCESS
ZNF407	55628	.	GRCh37	18	72345386	72345386	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	70	0	ENST00000299687.5:c.2411A>T	p.Gln804Leu	p.Q804L	ENST00000299687	NM_017757.2	804	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45885.1	2411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCAATTAC	NONE	.	.	hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402	.	.	ENSP00000299687	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.22)	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,missense_variant,p.Gln804Leu,ENST00000309902,;ZNF407,missense_variant,p.Gln804Leu,ENST00000299687,;ZNF407,missense_variant,p.Gln804Leu,ENST00000582337,;ZNF407,missense_variant,p.Gln804Leu,ENST00000577538,;	2411	70	78	SUCCESS
CD97	0	.	GRCh37	19	14507927	14507927	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	94	0	ENST00000242786.5:c.517A>T	p.Ser173Cys	p.S173C	ENST00000242786	NM_078481.3	173	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS32929.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGCTCC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF253,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000242786	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000242786	Transcript	.	.	ENSG00000123146	1711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0.04)	.	CD97_HUMAN	CD97	HGNC	.	.	UPI0000161C9A	SNV	CD97,missense_variant,p.Ser173Cys,ENST00000242786,;CD97,missense_variant,p.Ser129Cys,ENST00000592261,;CD97,intron_variant,,ENST00000586517,;CD97,intron_variant,,ENST00000357355,;CD97,intron_variant,,ENST00000358600,;CD97,intron_variant,,ENST00000587728,;CD97,non_coding_transcript_exon_variant,,ENST00000591737,;CD97,non_coding_transcript_exon_variant,,ENST00000587535,;CD97,upstream_gene_variant,,ENST00000587319,;CD97,upstream_gene_variant,,ENST00000593028,;CD97,upstream_gene_variant,,ENST00000590567,;CD97,upstream_gene_variant,,ENST00000586849,;CD97,upstream_gene_variant,,ENST00000592341,;	597	94	67	SUCCESS
CYP4F12	66002	.	GRCh37	19	15794357	15794357	+	synonymous_variant	Silent	SNP	A	A	G	rs376069087	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	49	0	ENST00000550308.1:c.702A>G	p.Lys234=	p.K234=	ENST00000550308	NM_023944.3	234	aaA/aaG	0	T:0.0002	.	.	.	.	G	K	protein_coding	YES	CCDS42517.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAAGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF72,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	T:0	ENSP00000448998	.	7/13	.	.	.	.	.	.	.	.	rs376069087	7/13	PASS	ENST00000550308	Transcript	.	.	ENSG00000186204	18857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4FC_HUMAN	CYP4F12	HGNC	.	.	UPI000013D3F9	SNV	CYP4F12,synonymous_variant,p.%3D,ENST00000550308,;CYP4F12,synonymous_variant,p.%3D,ENST00000324632,;CYP4F12,downstream_gene_variant,,ENST00000551607,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000550627,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,;CYP4F12,downstream_gene_variant,,ENST00000430608,;CYP4F12,downstream_gene_variant,,ENST00000549622,;CYP4F12,downstream_gene_variant,,ENST00000546792,;CYP4F12,downstream_gene_variant,,ENST00000547332,;CYP4F12,downstream_gene_variant,,ENST00000547471,;CYP4F12,downstream_gene_variant,,ENST00000548237,;CYP4F12,downstream_gene_variant,,ENST00000451750,;CYP4F12,downstream_gene_variant,,ENST00000548435,;CYP4F12,downstream_gene_variant,,ENST00000550264,;CYP4F12,downstream_gene_variant,,ENST00000548501,;	1082	49	100	SUCCESS
CPAMD8	27151	.	GRCh37	19	17122291	17122291	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	34	123	0	ENST00000443236.1:c.610A>T	p.Arg204Trp	p.R204W	ENST00000443236	NM_015692.2	204	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS42519.1	610	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTCAGAT	NONE	.	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412,Pfam_domain:PF01835	.	.	ENSP00000402505	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Arg157Trp,ENST00000388925,;CPAMD8,missense_variant,p.Arg204Trp,ENST00000443236,;CTD-2528A14.1,intron_variant,,ENST00000595134,;CPAMD8,missense_variant,p.Arg204Trp,ENST00000291440,;	642	123	201	SUCCESS
COLGALT1	79709	.	GRCh37	19	17678227	17678227	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	41	0	ENST00000252599.4:c.502G>C	p.Asp168His	p.D168H	ENST00000252599	NM_024656.2	168	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS12363.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCGGACAAC	NONE	.	.	hmmpanther:PTHR10730:SF10,hmmpanther:PTHR10730,Gene3D:3.90.550.10,Pfam_domain:PF13704,Superfamily_domains:SSF53448	.	.	ENSP00000252599	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000252599	Transcript	.	.	ENSG00000130309	26182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	GT251_HUMAN	COLGALT1	HGNC	Q8WUI9_HUMAN,M0QYH0_HUMAN,B3KQ10_HUMAN	.	UPI000003B0F7	SNV	COLGALT1,missense_variant,p.Asp75His,ENST00000600474,;COLGALT1,missense_variant,p.Asp168His,ENST00000252599,;COLGALT1,upstream_gene_variant,,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000601354,;	622	41	85	SUCCESS
ATP13A1	57130	.	GRCh37	19	19766889	19766889	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761044038	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	30	0	ENST00000357324.6:c.1187C>T	p.Pro396Leu	p.P396L	ENST00000357324	NM_020410.2	396	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32970.2	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGGGGGG	NONE	.	.	Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82	.	.	ENSP00000349877	.	8/26	.	.	.	.	.	.	.	.	rs761044038	8/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	deleterious(0.01)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Pro278Leu,ENST00000291503,;ATP13A1,missense_variant,p.Pro396Leu,ENST00000357324,;ATP13A1,downstream_gene_variant,,ENST00000455627,;ATP13A1,downstream_gene_variant,,ENST00000487364,;ATP13A1,upstream_gene_variant,,ENST00000496082,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000474955,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,upstream_gene_variant,,ENST00000469641,;ATP13A1,upstream_gene_variant,,ENST00000497556,;ATP13A1,upstream_gene_variant,,ENST00000497762,;ATP13A1,upstream_gene_variant,,ENST00000491221,;ATP13A1,downstream_gene_variant,,ENST00000492774,;ATP13A1,upstream_gene_variant,,ENST00000497156,;ATP13A1,upstream_gene_variant,,ENST00000471063,;	1214	30	35	SUCCESS
NFIC	4782	.	GRCh37	19	3382056	3382056	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	88	0	ENST00000443272.2:c.377A>T	p.Lys126Met	p.K126M	ENST00000443272	NM_001245002.1	126	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS59330.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAAGGTGT	NONE	.	.	PROSITE_profiles:PS51080,hmmpanther:PTHR11492,Pfam_domain:PF03165,SMART_domains:SM00523	.	.	ENSP00000396843	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,missense_variant,p.Lys117Met,ENST00000586919,;NFIC,missense_variant,p.Lys117Met,ENST00000395111,;NFIC,missense_variant,p.Lys117Met,ENST00000346156,;NFIC,missense_variant,p.Lys117Met,ENST00000589123,;NFIC,missense_variant,p.Lys126Met,ENST00000590282,;NFIC,missense_variant,p.Lys126Met,ENST00000341919,;NFIC,missense_variant,p.Lys126Met,ENST00000443272,;	428	88	80	SUCCESS
HMG20B	10362	.	GRCh37	19	3573899	3573899	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	54	0	ENST00000333651.6:c.147+101A>T		p.*49*	ENST00000333651	NM_006339.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45919.1	.	MUTECT|MUSE	.	CCCACAGCCCA	NONE	.	.	.	.	.	ENSP00000328269	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333651	Transcript	.	.	ENSG00000064961	5002	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HM20B_HUMAN	HMG20B	HGNC	C9JQA7_HUMAN,C9J8X5_HUMAN	.	UPI000006D8AE	SNV	HMG20B,intron_variant,,ENST00000333651,;HMG20B,intron_variant,,ENST00000262949,;HMG20B,intron_variant,,ENST00000416526,;HMG20B,intron_variant,,ENST00000417382,;HMG20B,intron_variant,,ENST00000453933,;MFSD12,upstream_gene_variant,,ENST00000592652,;HMG20B,upstream_gene_variant,,ENST00000585900,;HMG20B,splice_acceptor_variant,,ENST00000585741,;MFSD12,intron_variant,,ENST00000586402,;MFSD12,upstream_gene_variant,,ENST00000591878,;HMG20B,non_coding_transcript_exon_variant,,ENST00000470356,;HMG20B,non_coding_transcript_exon_variant,,ENST00000488973,;HMG20B,intron_variant,,ENST00000435022,;HMG20B,upstream_gene_variant,,ENST00000461099,;HMG20B,upstream_gene_variant,,ENST00000483417,;HMG20B,upstream_gene_variant,,ENST00000464304,;HMG20B,upstream_gene_variant,,ENST00000487894,;HMG20B,upstream_gene_variant,,ENST00000493191,;MFSD12,upstream_gene_variant,,ENST00000585814,;HMG20B,upstream_gene_variant,,ENST00000486028,;MFSD12,upstream_gene_variant,,ENST00000588626,;	.	54	38	SUCCESS
COX7A1	1346	.	GRCh37	19	36643360	36643360	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	86	0	ENST00000292907.3:c.-51T>A		p.*17*	ENST00000292907	NM_001864.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12490.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACACGCGT	NONE	.	.	.	.	.	ENSP00000292907	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000292907	Transcript	.	.	ENSG00000161281	2287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX7A1_HUMAN	COX7A1	HGNC	U3KQH8_HUMAN,Q6FGI7_HUMAN,H6SG12_HUMAN	.	UPI0000048D61	SNV	COX7A1,5_prime_UTR_variant,,ENST00000292907,;CAPNS1,downstream_gene_variant,,ENST00000588815,;CAPNS1,downstream_gene_variant,,ENST00000587718,;CAPNS1,downstream_gene_variant,,ENST00000588780,;CAPNS1,downstream_gene_variant,,ENST00000590211,;CAPNS1,downstream_gene_variant,,ENST00000246533,;COX7A1,upstream_gene_variant,,ENST00000437291,;CAPNS1,downstream_gene_variant,,ENST00000590874,;COX7A1,upstream_gene_variant,,ENST00000589154,;CAPNS1,downstream_gene_variant,,ENST00000586851,;CAPNS1,downstream_gene_variant,,ENST00000589146,;AD001527.7,upstream_gene_variant,,ENST00000604228,;CAPNS1,downstream_gene_variant,,ENST00000589162,;CAPNS1,downstream_gene_variant,,ENST00000590049,;COX7A1,upstream_gene_variant,,ENST00000481297,;	412	86	87	SUCCESS
ZFP14	57677	.	GRCh37	19	36832052	36832052	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs776401073	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	54	0	ENST00000270001.7:c.676A>T	p.Lys226Ter	p.K226*	ENST00000270001	NM_020917.2	226	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS33002.1	676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTTCTCAC	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24377:SF253,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000270001	.	5/5	.	.	.	.	.	.	.	.	rs776401073	5/5	PASS	ENST00000270001	Transcript	.	.	ENSG00000142065	29312	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP14_HUMAN	ZFP14	HGNC	.	.	UPI000013AD55	SNV	ZFP14,stop_gained,p.Lys226Ter,ENST00000270001,;	792	54	69	SUCCESS
GGN	199720	.	GRCh37	19	38877316	38877316	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748092486	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	72	0	ENST00000334928.6:c.586G>A	p.Ala196Thr	p.A196T	ENST00000334928	NM_152657.3	196	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12516.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCGGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979:SF18,hmmpanther:PTHR22979	.	.	ENSP00000334940	.	3/4	.	.	.	.	.	.	.	.	rs748092486	3/4	PASS	ENST00000334928	Transcript	.	.	ENSG00000179168	18869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.25)	.	GGN_HUMAN	GGN	HGNC	K7ENT5_HUMAN,K7EJI6_HUMAN	.	UPI0000073CAB	SNV	GGN,missense_variant,p.Ala196Thr,ENST00000334928,;GGN,downstream_gene_variant,,ENST00000587676,;SPRED3,upstream_gene_variant,,ENST00000338502,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000592035,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000592561,;PSMD8,downstream_gene_variant,,ENST00000215071,;GGN,downstream_gene_variant,,ENST00000586599,;PSMD8,downstream_gene_variant,,ENST00000585598,;SPRED3,upstream_gene_variant,,ENST00000586301,;SPRED3,upstream_gene_variant,,ENST00000587013,;AC005789.9,splice_region_variant,,ENST00000585411,;GGN,intron_variant,,ENST00000591809,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,missense_variant,p.Ala113Thr,ENST00000585737,;SPRED3,upstream_gene_variant,,ENST00000586958,;PSMD8,downstream_gene_variant,,ENST00000590331,;	719	72	70	SUCCESS
DLL3	10683	.	GRCh37	19	39998581	39998581	+	synonymous_variant	Silent	SNP	A	A	T	rs199745659	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	72	0	ENST00000205143.4:c.1785A>T	p.Leu595=	p.L595=	ENST00000205143	NM_016941.3	595	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12538.1	1785	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTACACAC	NONE	.	.	hmmpanther:PTHR24838:SF115,hmmpanther:PTHR24838	.	.	ENSP00000205143	.	8/8	.	.	.	.	.	.	.	.	rs199745659	8/8	PASS	ENST00000205143	Transcript	1	.	ENSG00000090932	2909	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLL3_HUMAN	DLL3	HGNC	.	.	UPI0000051041	SNV	DLL3,synonymous_variant,p.%3D,ENST00000205143,;DLL3,intron_variant,,ENST00000356433,;DLL3,downstream_gene_variant,,ENST00000596614,;DLL3,downstream_gene_variant,,ENST00000600437,;	1792	72	86	SUCCESS
CEACAM4	1089	.	GRCh37	19	42132079	42132079	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	37	111	0	ENST00000221954.2:c.320T>A	p.Leu107Gln	p.L107Q	ENST00000221954	NM_001817.2	107	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33033.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCAGGGAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000221954	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000221954	Transcript	.	.	ENSG00000105352	1816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	SNV	CEACAM4,missense_variant,p.Leu107Gln,ENST00000221954,;CEACAM4,missense_variant,p.Leu107Gln,ENST00000600925,;CEACAM4,non_coding_transcript_exon_variant,,ENST00000472081,;	431	111	151	SUCCESS
ZNF226	7769	.	GRCh37	19	44676286	44676286	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs771774187	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	69	0	ENST00000337433.5:c.61G>T	p.Glu21Ter	p.E21*	ENST00000337433	NM_001032373.1	21	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS46102.1	61	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGAATTG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000465121	.	5/7	.	.	.	.	.	.	.	.	rs771774187	5/7	PASS	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,stop_gained,p.Glu21Ter,ENST00000585560,;ZNF226,stop_gained,p.Glu21Ter,ENST00000586286,;ZNF226,stop_gained,p.Glu21Ter,ENST00000590089,;ZNF226,stop_gained,p.Glu21Ter,ENST00000588127,;ZNF226,stop_gained,p.Glu21Ter,ENST00000413984,;ZNF226,stop_gained,p.Glu21Ter,ENST00000588742,;ZNF226,stop_gained,p.Glu21Ter,ENST00000589160,;ZNF226,stop_gained,p.Glu21Ter,ENST00000300823,;ZNF226,stop_gained,p.Glu21Ter,ENST00000337433,;ZNF226,stop_gained,p.Glu21Ter,ENST00000590524,;ZNF226,stop_gained,p.Glu21Ter,ENST00000586203,;ZNF226,stop_gained,p.Glu21Ter,ENST00000588883,;ZNF226,stop_gained,p.Glu21Ter,ENST00000586914,;ZNF226,stop_gained,p.Glu21Ter,ENST00000590467,;ZNF226,stop_gained,p.Glu21Ter,ENST00000588795,;ZNF226,stop_gained,p.Glu21Ter,ENST00000454662,;ZNF226,stop_gained,p.Glu21Ter,ENST00000590578,;ZNF226,5_prime_UTR_variant,,ENST00000585678,;ZNF226,non_coding_transcript_exon_variant,,ENST00000590759,;	428	69	66	SUCCESS
CBLC	23624	.	GRCh37	19	45303670	45303670	+	synonymous_variant	Silent	SNP	G	G	T	rs1011305311	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	28	150	0	ENST00000270279.3:c.1395G>T	p.Ala465=	p.A465=	ENST00000270279	NM_012116.3	465	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12643.1	1395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGCTGGG	NONE	.	.	hmmpanther:PTHR23007:SF1,hmmpanther:PTHR23007	.	.	ENSP00000270279	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000270279	Transcript	.	.	ENSG00000142273	15961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLC_HUMAN	CBLC	HGNC	.	.	UPI000013D87E	SNV	CBLC,synonymous_variant,p.%3D,ENST00000341505,;CBLC,synonymous_variant,p.%3D,ENST00000270279,;	1458	150	153	SUCCESS
CCDC8	83987	.	GRCh37	19	46916268	46916268	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	68	0	ENST00000307522.3:c.-201T>A		p.*67*	ENST00000307522	NM_032040.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12685.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAAGATCT	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,5_prime_UTR_variant,,ENST00000307522,;	574	68	83	SUCCESS
MYBPC2	4606	.	GRCh37	19	50962198	50962198	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs202035202	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	92	0	ENST00000357701.5:c.2530C>A	p.Arg844Ser	p.R844S	ENST00000357701	NM_004533.3	844	Cgc/Agc	0	T:0	.	.	.	.	A	R/S	protein_coding	YES	CCDS46152.1	2530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCGCCAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Gene3D:2.60.40.10	.	T:0.0002	ENSP00000350332	.	22/28	.	.	.	.	.	.	.	.	rs202035202	22/28	PASS	ENST00000357701	Transcript	.	.	ENSG00000086967	7550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,missense_variant,p.Arg844Ser,ENST00000357701,;	2581	92	100	SUCCESS
SYT3	84258	.	GRCh37	19	51129240	51129240	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	21	91	0	ENST00000338916.4:c.1316T>A	p.Leu439His	p.L439H	ENST00000338916	NM_032298.2	439	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS12798.1	1316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAGTGAG	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000340914	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000338916	Transcript	.	.	ENSG00000213023	11511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	SYT3_HUMAN	SYT3	HGNC	M0QY70_HUMAN	.	UPI0000047AEB	SNV	SYT3,missense_variant,p.Leu439His,ENST00000593901,;SYT3,missense_variant,p.Leu439His,ENST00000600079,;SYT3,missense_variant,p.Leu439His,ENST00000544769,;SYT3,missense_variant,p.Leu439His,ENST00000338916,;SYT3,non_coding_transcript_exon_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	1950	91	111	SUCCESS
KLK6	5653	.	GRCh37	19	51470458	51470458	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	24	85	0	ENST00000310157.2:c.164T>A	p.Leu55Gln	p.L55Q	ENST00000310157	NM_002774.3	55	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12811.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGTGGA	NONE	.	.	Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24271:SF19,hmmpanther:PTHR24271,PROSITE_profiles:PS50240	.	.	ENSP00000366047	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000376851	Transcript	.	.	ENSG00000167755	6367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	KLK6_HUMAN	KLK6	HGNC	.	.	UPI000004CA06	SNV	KLK6,missense_variant,p.Leu55Gln,ENST00000310157,;KLK6,missense_variant,p.Leu55Gln,ENST00000376851,;KLK6,missense_variant,p.Leu55Gln,ENST00000594641,;KLK6,missense_variant,p.Leu55Gln,ENST00000376853,;KLK6,5_prime_UTR_variant,,ENST00000391808,;KLK6,intron_variant,,ENST00000424910,;KLK6,upstream_gene_variant,,ENST00000456750,;CTB-147C22.8,downstream_gene_variant,,ENST00000601506,;CTB-147C22.9,upstream_gene_variant,,ENST00000594512,;KLK6,missense_variant,p.Cys32Ser,ENST00000599690,;KLK6,intron_variant,,ENST00000597379,;KLK6,intron_variant,,ENST00000599881,;	604	85	123	SUCCESS
VSIG10L	147645	.	GRCh37	19	51841247	51841247	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	54	0	ENST00000335624.4:c.1945G>A	p.Gly649Arg	p.G649R	ENST00000335624	NM_001163922.1	649	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS54300.1	1945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCCAGGT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF565,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000335623	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000335624	Transcript	.	.	ENSG00000186806	27111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	VS10L_HUMAN	VSIG10L	HGNC	.	.	UPI00001D8188	SNV	VSIG10L,missense_variant,p.Gly649Arg,ENST00000335624,;CTD-2616J11.16,upstream_gene_variant,,ENST00000601148,;CTD-2616J11.16,upstream_gene_variant,,ENST00000594311,;VSIG10L,stop_gained,p.Trp158Ter,ENST00000600663,;	1945	54	78	SUCCESS
HAS1	3036	.	GRCh37	19	52222631	52222631	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	97	0	ENST00000222115.1:c.530C>T	p.Ala177Val	p.A177V	ENST00000222115	NM_001523.2	177	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS12838.1	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4	.	.	ENSP00000222115	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.2)	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,missense_variant,p.Ala176Val,ENST00000540069,;HAS1,missense_variant,p.Ala31Val,ENST00000594621,;HAS1,missense_variant,p.Ala177Val,ENST00000222115,;HAS1,missense_variant,p.Ala184Val,ENST00000601714,;HAS1,upstream_gene_variant,,ENST00000601667,;	565	97	96	SUCCESS
ZNF880	400713	.	GRCh37	19	52888535	52888535	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	37	157	0	ENST00000422689.2:c.1702A>T	p.Arg568Ter	p.R568*	ENST00000422689	NM_001145434.1	568	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46164.1	1702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAGAATC	NONE	.	.	SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF108,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000406318	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,stop_gained,p.Arg568Ter,ENST00000422689,;ZNF880,downstream_gene_variant,,ENST00000424032,;CTD-3018O17.3,downstream_gene_variant,,ENST00000601562,;CTD-3018O17.3,downstream_gene_variant,,ENST00000594119,;	1717	157	168	SUCCESS
ZNF702P	79986	.	GRCh37	19	53473106	53473106	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	59	236	0	ENST00000270443.4:n.1388A>T		p.*463*	ENST00000270443				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATTACACT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000598752,;ZNF702P,downstream_gene_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	1388	236	291	SUCCESS
LENG8	114823	.	GRCh37	19	54965762	54965762	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	81	0	ENST00000326764.5:c.580A>T	p.Ser194Cys	p.S194C	ENST00000326764	NM_052925.2	194	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12894.1	580	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGCCAG	NONE	.	.	hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.575)	.	deleterious(0.02)	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,missense_variant,p.Ser194Cys,ENST00000326764,;LENG8,missense_variant,p.Ser194Cys,ENST00000431846,;LENG8,missense_variant,p.Ser194Cys,ENST00000439657,;LENG8,missense_variant,p.Ser157Cys,ENST00000376526,;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000462541,;	1059	81	92	SUCCESS
NLRP13	126204	.	GRCh37	19	56413554	56413554	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	41	0	ENST00000342929.3:c.2636T>A	p.Leu879Gln	p.L879Q	ENST00000342929	NM_176810.2	879	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33119.1	2636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCAGCTGG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000343891	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000342929	Transcript	.	.	ENSG00000173572	22937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NAL13_HUMAN	NLRP13	HGNC	.	.	UPI00001AEEC8	SNV	NLRP13,missense_variant,p.Leu879Gln,ENST00000588751,;NLRP13,missense_variant,p.Leu879Gln,ENST00000342929,;	2636	41	37	SUCCESS
NLRP5	126206	.	GRCh37	19	56520164	56520164	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	74	0	ENST00000390649.3:c.453A>T	p.Pro151=	p.P151=	ENST00000390649	NM_153447.4	151	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12938.1	453	RADIA|MUTECT|MUSE	.	TCACCAGAAGA	NONE	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106	.	.	ENSP00000375063	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,synonymous_variant,p.%3D,ENST00000390649,;NLRP5,synonymous_variant,p.%3D,ENST00000597673,;	453	74	93	SUCCESS
ZNF835	90485	.	GRCh37	19	57176467	57176467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	77	0	ENST00000537055.2:c.100T>A	p.Cys34Ser	p.C34S	ENST00000537055	NM_001005850.2	34	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS56105.1	100	RADIA|MUTECT|MUSE	.	TGGACAGCTTT	NONE	.	.	.	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.54)	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,missense_variant,p.Cys34Ser,ENST00000601659,;ZNF835,missense_variant,p.Cys34Ser,ENST00000537055,;	332	77	74	SUCCESS
ZNF418	147686	.	GRCh37	19	58446590	58446590	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	16	0	ENST00000396147.1:c.-142C>A		p.*48*	ENST00000396147	NM_133460.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42642.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCCGGGAGCGG	NONE	.	.	.	.	.	ENSP00000379451	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000396147	Transcript	.	.	ENSG00000196724	20647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN418_HUMAN	ZNF418	HGNC	M0QX82_HUMAN	.	UPI000013B4C8	SNV	ZNF418,5_prime_UTR_variant,,ENST00000425570,;ZNF418,5_prime_UTR_variant,,ENST00000396147,;ZNF418,5_prime_UTR_variant,,ENST00000599852,;ZNF418,intron_variant,,ENST00000601593,;ZNF418,intron_variant,,ENST00000595569,;ZNF418,upstream_gene_variant,,ENST00000600989,;ZNF418,upstream_gene_variant,,ENST00000595830,;ZNF418,upstream_gene_variant,,ENST00000593296,;ZNF418,intron_variant,,ENST00000598213,;ZNF418,intron_variant,,ENST00000600353,;	151	16	14	SUCCESS
ZNF135	7694	.	GRCh37	19	58571397	58571397	+	synonymous_variant	Silent	SNP	A	A	T	rs777966791	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	48	0	ENST00000313434.5:c.27A>T	p.Thr9=	p.T9=	ENST00000313434	NM_003436.3	9	acA/acT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54329.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGACCC	NONE	.	.	.	.	.	ENSP00000441410	.	.	.	.	.	.	.	.	.	.	rs777966791	.	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,synonymous_variant,p.%3D,ENST00000313434,;ZNF135,synonymous_variant,p.%3D,ENST00000439855,;ZNF135,synonymous_variant,p.%3D,ENST00000511556,;ZNF135,5_prime_UTR_variant,,ENST00000506786,;ZNF135,intron_variant,,ENST00000401053,;ZNF135,intron_variant,,ENST00000359978,;ZNF135,synonymous_variant,p.%3D,ENST00000515535,;	.	48	61	SUCCESS
C19orf59	0	.	GRCh37	19	7743420	7743420	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	89	0	ENST00000333598.3:c.417C>A	p.Gly139=	p.G139=	ENST00000333598	NM_174918.2	139	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCTGGGA	NONE	.	.	.	.	.	ENSP00000469811	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000597959	Transcript	.	.	ENSG00000269711	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-3214H19.16	Clone_based_vega_gene	.	.	UPI0002A4736E	SNV	CTD-3214H19.16,synonymous_variant,p.%3D,ENST00000597959,;C19orf59,synonymous_variant,p.%3D,ENST00000333598,;C19orf59,synonymous_variant,p.%3D,ENST00000597445,;TRAPPC5,upstream_gene_variant,,ENST00000595985,;TRAPPC5,upstream_gene_variant,,ENST00000426877,;TRAPPC5,upstream_gene_variant,,ENST00000317378,;TRAPPC5,upstream_gene_variant,,ENST00000596148,;C19orf59,non_coding_transcript_exon_variant,,ENST00000598851,;	34	89	97	SUCCESS
OR7E24	26648	.	GRCh37	19	9361792	9361792	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	34	0	ENST00000456448.1:c.73A>T	p.Thr25Ser	p.T25S	ENST00000456448	NM_001079935.1	25	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS45955.1	73	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCACAGGT	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000387523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000456448	Transcript	.	.	ENSG00000237521	8396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0.02)	.	O7E24_HUMAN	OR7E24	HGNC	O43789_HUMAN	.	UPI00003B2886	SNV	OR7E24,missense_variant,p.Thr25Ser,ENST00000456448,;	187	34	40	SUCCESS
EXOSC10	5394	.	GRCh37	1	11142771	11142771	+	synonymous_variant	Silent	SNP	T	T	C	rs1277491208	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	20	95	0	ENST00000376936.4:c.1254A>G	p.Gln418=	p.Q418=	ENST00000376936	NM_001001998.1	418	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS30584.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATATTGCTT	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00474,Pfam_domain:PF01612,Gene3D:3.30.420.10,hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42	.	.	ENSP00000366135	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000376936	Transcript	.	.	ENSG00000171824	9138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOSX_HUMAN	EXOSC10	HGNC	K7EJ37_HUMAN,B4DFE4_HUMAN	.	UPI0000001C90	SNV	EXOSC10,synonymous_variant,p.%3D,ENST00000544779,;EXOSC10,synonymous_variant,p.%3D,ENST00000376936,;EXOSC10,synonymous_variant,p.%3D,ENST00000304457,;EXOSC10,upstream_gene_variant,,ENST00000470611,;EXOSC10,upstream_gene_variant,,ENST00000485606,;EXOSC10,upstream_gene_variant,,ENST00000472078,;EXOSC10,upstream_gene_variant,,ENST00000474216,;	1304	95	112	SUCCESS
IGSF3	3321	.	GRCh37	1	117127378	117127378	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	72	0	ENST00000369486.3:c.2737A>T	p.Ser913Cys	p.S913C	ENST00000369486	NM_001007237.2	913	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS30814.1	2797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCTGTCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358495	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.05)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Ser933Cys,ENST00000318837,;IGSF3,missense_variant,p.Ser913Cys,ENST00000369486,;IGSF3,missense_variant,p.Ser933Cys,ENST00000369483,;	3502	72	94	SUCCESS
LRRC38	126755	.	GRCh37	1	13839491	13839491	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	31	130	0	ENST00000376085.3:c.598T>A	p.Trp200Arg	p.W200R	ENST00000376085	NM_001010847.1	200	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS53269.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCAGGAGA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00082,hmmpanther:PTHR24373	.	.	ENSP00000365253	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376085	Transcript	.	.	ENSG00000162494	27005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRC38_HUMAN	LRRC38	HGNC	.	.	UPI00001C1D7E	SNV	LRRC38,missense_variant,p.Trp200Arg,ENST00000376085,;RP4-597A16.2,upstream_gene_variant,,ENST00000563570,;	1053	130	137	SUCCESS
CGN	57530	.	GRCh37	1	151501990	151501990	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	84	151	0	ENST00000271636.7:c.2061A>G	p.Gln687=	p.Q687=	ENST00000271636	NM_020770.2	687	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS999.1	2061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAAAAGAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF280,hmmpanther:PTHR13140	.	.	ENSP00000271636	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000271636	Transcript	.	.	ENSG00000143375	17429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CING_HUMAN	CGN	HGNC	A6PVU7_HUMAN,A2A3M4_HUMAN	.	UPI0000161C1E	SNV	CGN,synonymous_variant,p.%3D,ENST00000271636,;SNORA44,upstream_gene_variant,,ENST00000517031,;CGN,upstream_gene_variant,,ENST00000473377,;CGN,downstream_gene_variant,,ENST00000464886,;	2194	151	230	SUCCESS
FLG	2312	.	GRCh37	1	152281864	152281864	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	80	0	ENST00000368799.1:c.5498T>A	p.Val1833Glu	p.V1833E	ENST00000368799	NM_002016.1	1833	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS30860.1	5498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTACCGAT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Val1833Glu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5534	80	107	SUCCESS
S100A7A	338324	.	GRCh37	1	153391627	153391627	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	113	211	0	ENST00000329256.2:c.148A>T	p.Lys50Ter	p.K50*	ENST00000329256		50	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS30872.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAAGGGC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11639:SF64,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357718	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368729	Transcript	.	.	ENSG00000184330	21657	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1A7A_HUMAN	S100A7A	HGNC	.	.	UPI000000D89D	SNV	S100A7A,stop_gained,p.Lys50Ter,ENST00000368728,;S100A7A,stop_gained,p.Lys50Ter,ENST00000368729,;S100A7A,stop_gained,p.Lys50Ter,ENST00000329256,;	205	211	310	SUCCESS
THBS3	7059	.	GRCh37	1	155165894	155165894	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	56	0	ENST00000368378.3:c.2696A>T	p.Gln899Leu	p.Q899L	ENST00000368378	NM_007112.4	899	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1099.1	2696	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTGGGGT	NONE	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000357362	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.103)	.	tolerated(0.06)	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,missense_variant,p.Gln296Leu,ENST00000541576,;THBS3,missense_variant,p.Gln899Leu,ENST00000368378,;THBS3,missense_variant,p.Gln428Leu,ENST00000541990,;THBS3,missense_variant,p.Gln779Leu,ENST00000457183,;MUC1,upstream_gene_variant,,ENST00000368393,;MUC1,upstream_gene_variant,,ENST00000457295,;MUC1,upstream_gene_variant,,ENST00000438413,;MUC1,upstream_gene_variant,,ENST00000368389,;MUC1,upstream_gene_variant,,ENST00000368390,;MUC1,upstream_gene_variant,,ENST00000368396,;MUC1,upstream_gene_variant,,ENST00000337604,;MUC1,upstream_gene_variant,,ENST00000368392,;MUC1,upstream_gene_variant,,ENST00000338684,;MUC1,upstream_gene_variant,,ENST00000368395,;MUC1,upstream_gene_variant,,ENST00000368398,;MUC1,upstream_gene_variant,,ENST00000342482,;MUC1,upstream_gene_variant,,ENST00000343256,;MIR92B,downstream_gene_variant,,ENST00000607575,;RP11-263K19.4,upstream_gene_variant,,ENST00000454348,;RP11-263K19.4,upstream_gene_variant,,ENST00000447623,;RP11-263K19.4,upstream_gene_variant,,ENST00000453136,;RP11-263K19.4,upstream_gene_variant,,ENST00000436772,;RP11-263K19.4,upstream_gene_variant,,ENST00000422665,;RP11-263K19.4,upstream_gene_variant,,ENST00000430312,;THBS3,downstream_gene_variant,,ENST00000465596,;THBS3,downstream_gene_variant,,ENST00000486260,;THBS3,downstream_gene_variant,,ENST00000460050,;MUC1,upstream_gene_variant,,ENST00000466913,;MUC1,upstream_gene_variant,,ENST00000498431,;MUC1,upstream_gene_variant,,ENST00000494844,;MUC1,upstream_gene_variant,,ENST00000462215,;MUC1,upstream_gene_variant,,ENST00000471283,;MUC1,upstream_gene_variant,,ENST00000467134,;THBS3,non_coding_transcript_exon_variant,,ENST00000498500,;THBS3,non_coding_transcript_exon_variant,,ENST00000469769,;THBS3,downstream_gene_variant,,ENST00000496332,;THBS3,downstream_gene_variant,,ENST00000428962,;	2717	56	122	SUCCESS
GBA	2629	.	GRCh37	1	155208337	155208337	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	89	213	0	ENST00000327247.5:c.559A>T	p.Ser187Cys	p.S187C	ENST00000327247	NM_001005742.2	187	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1102.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGAAGT	NONE	.	.	Prints_domain:PR00843,Superfamily_domains:SSF51445,Pfam_domain:PF02055,Gene3D:3.20.20.80,hmmpanther:PTHR11069,hmmpanther:PTHR11069:SF9	.	.	ENSP00000314508	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000327247	Transcript	.	.	ENSG00000177628	4177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0)	.	GLCM_HUMAN	GBA	HGNC	Q9UQU9_HUMAN,J3KQG4_HUMAN	.	UPI0000073DCE	SNV	GBA,missense_variant,p.Ser74Cys,ENST00000536770,;GBA,missense_variant,p.Ser138Cys,ENST00000427500,;GBA,missense_variant,p.Ser187Cys,ENST00000327247,;GBA,missense_variant,p.Ser100Cys,ENST00000428024,;GBA,missense_variant,p.Ser187Cys,ENST00000368373,;AL713999.1,upstream_gene_variant,,ENST00000401290,;GBA,non_coding_transcript_exon_variant,,ENST00000493842,;GBA,non_coding_transcript_exon_variant,,ENST00000491081,;GBA,non_coding_transcript_exon_variant,,ENST00000497670,;GBA,non_coding_transcript_exon_variant,,ENST00000460156,;GBA,intron_variant,,ENST00000484489,;GBA,upstream_gene_variant,,ENST00000478472,;GBA,downstream_gene_variant,,ENST00000473570,;GBA,downstream_gene_variant,,ENST00000467918,;GBA,upstream_gene_variant,,ENST00000464536,;GBA,downstream_gene_variant,,ENST00000470104,;MTX1P1,downstream_gene_variant,,ENST00000440904,;	792	213	272	SUCCESS
ARHGAP30	257106	.	GRCh37	1	161023128	161023128	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771805079	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	74	0	ENST00000368013.3:c.584T>A	p.Met195Lys	p.M195K	ENST00000368013	NM_181720.2	195	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS30918.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCATGAAG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15729,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000356992	.	6/12	.	.	.	.	.	.	.	.	rs771805079	6/12	PASS	ENST00000368013	Transcript	.	.	ENSG00000186517	27414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	deleterious(0.02)	.	RHG30_HUMAN	ARHGAP30	HGNC	.	.	UPI0000160677	SNV	ARHGAP30,missense_variant,p.Met195Lys,ENST00000368013,;ARHGAP30,missense_variant,p.Met195Lys,ENST00000368016,;ARHGAP30,missense_variant,p.Met18Lys,ENST00000368015,;ARHGAP30,3_prime_UTR_variant,,ENST00000490279,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;ARHGAP30,downstream_gene_variant,,ENST00000471492,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;	905	74	112	SUCCESS
OLFML2B	25903	.	GRCh37	1	161968003	161968003	+	synonymous_variant	Silent	SNP	G	G	A	rs768981145	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	22	108	0	ENST00000294794.3:c.1086C>T	p.Ser362=	p.S362=	ENST00000294794	NM_015441.1	362	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS1236.1	1086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGCTTGT	BUFFER|p.N365N|c.1095C>T|4	byFrequency	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	.	.	ENSP00000294794	.	6/8	.	.	.	.	.	.	.	.	rs768981145	6/8	PASS	ENST00000294794	Transcript	.	.	ENSG00000162745	24558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLM2B_HUMAN	OLFML2B	HGNC	H0YEW8_HUMAN,H0YE85_HUMAN	.	UPI00001D7DE0	SNV	OLFML2B,synonymous_variant,p.%3D,ENST00000367940,;OLFML2B,synonymous_variant,p.%3D,ENST00000294794,;	1510	108	127	SUCCESS
KIF21B	23046	.	GRCh37	1	200974470	200974470	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	38	0	ENST00000422435.2:c.698T>A	p.Leu233Gln	p.L233Q	ENST00000422435	NM_001252100.1	233	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS58056.1	698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACAGGTGG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000411831	.	5/35	.	.	.	.	.	.	.	.	.	5/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	deleterious(0)	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,missense_variant,p.Leu233Gln,ENST00000422435,;KIF21B,missense_variant,p.Leu233Gln,ENST00000360529,;KIF21B,missense_variant,p.Leu233Gln,ENST00000461742,;KIF21B,missense_variant,p.Leu233Gln,ENST00000332129,;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;	1015	38	55	SUCCESS
NFASC	23114	.	GRCh37	1	204923314	204923314	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	67	0	ENST00000339876.6:c.216-2A>T		p.X72_splice	ENST00000339876	NM_001005388.2	72		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53460.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACAGCTTC	NONE	.	.	.	.	.	ENSP00000344786	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339876	Transcript	.	.	ENSG00000163531	29866	.	.	HIGH	5/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,splice_acceptor_variant,,ENST00000404076,;NFASC,splice_acceptor_variant,,ENST00000403080,;NFASC,splice_acceptor_variant,,ENST00000367170,;NFASC,splice_acceptor_variant,,ENST00000446412,;NFASC,splice_acceptor_variant,,ENST00000338515,;NFASC,splice_acceptor_variant,,ENST00000505079,;NFASC,splice_acceptor_variant,,ENST00000360049,;NFASC,splice_acceptor_variant,,ENST00000401399,;NFASC,splice_acceptor_variant,,ENST00000404907,;NFASC,splice_acceptor_variant,,ENST00000367171,;NFASC,splice_acceptor_variant,,ENST00000539706,;NFASC,splice_acceptor_variant,,ENST00000339876,;NFASC,splice_acceptor_variant,,ENST00000367173,;NFASC,splice_acceptor_variant,,ENST00000430393,;NFASC,splice_acceptor_variant,,ENST00000513543,;NFASC,splice_acceptor_variant,,ENST00000367169,;NFASC,splice_acceptor_variant,,ENST00000367172,;NFASC,splice_acceptor_variant,,ENST00000338586,;NFASC,splice_acceptor_variant,,ENST00000404977,;NFASC,upstream_gene_variant,,ENST00000504149,;NFASC,splice_acceptor_variant,,ENST00000504476,;NFASC,splice_acceptor_variant,,ENST00000514644,;NFASC,upstream_gene_variant,,ENST00000512826,;	.	67	80	SUCCESS
NBPF3	84224	.	GRCh37	1	21799874	21799874	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	38	87	0	ENST00000318249.5:c.736G>T	p.Glu246Ter	p.E246*	ENST00000318249	NM_032264.4	246	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS216.1	736	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCAGGGAGGTG	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF15,hmmpanther:PTHR14199,Pfam_domain:PF06758	.	.	ENSP00000316782	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000318249	Transcript	.	.	ENSG00000142794	25076	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NBPF3_HUMAN	NBPF3	HGNC	.	.	UPI0000037D6C	SNV	NBPF3,stop_gained,p.Glu190Ter,ENST00000434838,;NBPF3,stop_gained,p.Glu246Ter,ENST00000318249,;NBPF3,stop_gained,p.Glu190Ter,ENST00000318220,;NBPF3,stop_gained,p.Glu176Ter,ENST00000454000,;NBPF3,stop_gained,p.Glu246Ter,ENST00000342104,;NBPF3,non_coding_transcript_exon_variant,,ENST00000469876,;NBPF3,downstream_gene_variant,,ENST00000486229,;NBPF3,upstream_gene_variant,,ENST00000477050,;	1086	87	129	SUCCESS
TGFB2	7042	.	GRCh37	1	218609331	218609331	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	27	96	0	ENST00000366930.4:c.774A>T	p.Thr258=	p.T258=	ENST00000366930	NM_003238.3	258	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS44318.1	858	RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATATAC	NONE	.	.	PIRSF_domain:PIRSF001787,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141	.	.	ENSP00000355896	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000366929	Transcript	.	.	ENSG00000092969	11768	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TGFB2_HUMAN	TGFB2	HGNC	.	.	UPI000016B0C1	SNV	TGFB2,synonymous_variant,p.%3D,ENST00000366929,;TGFB2,synonymous_variant,p.%3D,ENST00000366930,;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;TGFB2,downstream_gene_variant,,ENST00000488793,;	1325	96	186	SUCCESS
SKI	6497	.	GRCh37	1	2236002	2236002	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs756190455	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	61	0	ENST00000378536.4:c.1745A>T	p.Gln582Leu	p.Q582L	ENST00000378536	NM_003036.3	582	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS39.1	1745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGGCCA	NONE	.	.	hmmpanther:PTHR10005:SF15,hmmpanther:PTHR10005	.	.	ENSP00000367797	.	5/7	.	.	.	.	.	.	.	.	rs756190455	5/7	PASS	ENST00000378536	Transcript	.	.	ENSG00000157933	10896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.02)	.	SKI_HUMAN	SKI	HGNC	Q7Z462_HUMAN,Q7Z461_HUMAN,Q7Z459_HUMAN	.	UPI00001359DE	SNV	SKI,missense_variant,p.Gln582Leu,ENST00000378536,;SKI,downstream_gene_variant,,ENST00000478223,;SKI,downstream_gene_variant,,ENST00000508416,;SKI,downstream_gene_variant,,ENST00000507179,;	1817	61	72	SUCCESS
OBSCN	84033	.	GRCh37	1	228520596	228520596	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	90	0	ENST00000422127.1:c.15688A>T	p.Thr5230Ser	p.T5230S	ENST00000422127	NM_001098623.2	5230	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS59204.1	18559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCACGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	68/116	.	.	.	.	.	.	.	.	.	68/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Thr2864Ser,ENST00000366707,;OBSCN,missense_variant,p.Thr2349Ser,ENST00000366709,;OBSCN,missense_variant,p.Thr5230Ser,ENST00000284548,;OBSCN,missense_variant,p.Thr5230Ser,ENST00000422127,;OBSCN,missense_variant,p.Thr6187Ser,ENST00000570156,;OBSCN,upstream_gene_variant,,ENST00000441106,;	18633	90	88	SUCCESS
OR2T12	127064	.	GRCh37	1	248458280	248458280	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	307	164	398	0	ENST00000317996.1:c.601T>A	p.Cys201Ser	p.C201S	ENST00000317996	NM_001004692.1	201	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS31110.1	601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACAGCAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,missense_variant,p.Cys201Ser,ENST00000317996,;	601	398	471	SUCCESS
OPRD1	4985	.	GRCh37	1	29189642	29189642	+	synonymous_variant	Silent	SNP	C	C	T	rs151265362	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	35	0	ENST00000234961.2:c.966C>T	p.Asp322=	p.D322=	ENST00000234961	NM_000911.3	322	gaC/gaT	0	T:0.0005	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS329.1	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGACGAGAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF2,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00384,Prints_domain:PR00237	T:0	T:0.0003	ENSP00000234961	T:0.001	3/3	.	.	.	.	.	.	.	.	rs151265362	3/3	PASS	ENST00000234961	Transcript	.	T:0.0002	ENSG00000116329	8153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	OPRD_HUMAN	OPRD1	HGNC	.	.	UPI0000130D94	SNV	OPRD1,synonymous_variant,p.%3D,ENST00000234961,;RP1-212P9.2,upstream_gene_variant,,ENST00000443593,;	1208	35	41	SUCCESS
CLSPN	63967	.	GRCh37	1	36226433	36226433	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs78526448	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	31	0	ENST00000318121.3:c.1089A>T	p.Lys363Asn	p.K363N	ENST00000318121	NM_022111.3	363	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS396.1	1089	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GAACCTTTACT	NONE	byCluster	.	hmmpanther:PTHR14396	.	.	ENSP00000312995	.	8/25	.	.	.	.	.	.	.	.	rs78526448	8/25	PASS	ENST00000318121	Transcript	.	.	ENSG00000092853	19715	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.14)	.	CLSPN_HUMAN	CLSPN	HGNC	.	.	UPI0000161087	SNV	CLSPN,missense_variant,p.Lys363Asn,ENST00000318121,;CLSPN,missense_variant,p.Lys363Asn,ENST00000520551,;CLSPN,missense_variant,p.Lys363Asn,ENST00000373220,;CLSPN,missense_variant,p.Lys363Asn,ENST00000251195,;	1147	31	37	SUCCESS
MSH4	4438	.	GRCh37	1	76378494	76378494	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	32	141	0	ENST00000263187.3:c.2733A>G	p.Ile911Met	p.I911M	ENST00000263187	NM_002440.3	911	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS670.1	2733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAATATATTT	BUFFER|p.R910Q|c.2729G>A|3	.	.	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21	.	.	ENSP00000263187	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000263187	Transcript	.	.	ENSG00000057468	7327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	MSH4_HUMAN	MSH4	HGNC	Q5ZEZ0_HUMAN	.	UPI000006D934	SNV	MSH4,missense_variant,p.Ile911Met,ENST00000263187,;	2837	141	148	SUCCESS
LPHN2	0	.	GRCh37	1	82456641	82456641	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	95	0	ENST00000370717.2:c.4237A>T	p.Arg1413Trp	p.R1413W	ENST00000370717		1413	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS689.1	4024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAGGAGG	NONE	.	.	Pfam_domain:PF02354	.	.	ENSP00000322270	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious_low_confidence(0)	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,missense_variant,p.Arg1355Trp,ENST00000370730,;LPHN2,missense_variant,p.Arg1355Trp,ENST00000335786,;LPHN2,missense_variant,p.Arg1413Trp,ENST00000370717,;LPHN2,missense_variant,p.Arg1370Trp,ENST00000370727,;LPHN2,missense_variant,p.Arg1413Trp,ENST00000370725,;LPHN2,missense_variant,p.Arg1342Trp,ENST00000319517,;LPHN2,missense_variant,p.Arg1370Trp,ENST00000271029,;LPHN2,missense_variant,p.Arg1398Trp,ENST00000370728,;LPHN2,missense_variant,p.Arg1342Trp,ENST00000359929,;LPHN2,missense_variant,p.Arg1400Trp,ENST00000370723,;LPHN2,missense_variant,p.Arg410Trp,ENST00000402328,;LPHN2,missense_variant,p.Arg1323Trp,ENST00000370721,;LPHN2,missense_variant,p.Arg1400Trp,ENST00000394879,;LPHN2,missense_variant,p.Arg1290Trp,ENST00000449420,;LPHN2,3_prime_UTR_variant,,ENST00000370713,;LPHN2,3_prime_UTR_variant,,ENST00000370715,;LPHN2,non_coding_transcript_exon_variant,,ENST00000469377,;LPHN2,downstream_gene_variant,,ENST00000472424,;LPHN2,downstream_gene_variant,,ENST00000464775,;LPHN2,downstream_gene_variant,,ENST00000464551,;	4240	95	94	SUCCESS
SLC45A1	50651	.	GRCh37	1	8384424	8384424	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	77	0	ENST00000289877.8:c.35A>T	p.Asp12Val	p.D12V	ENST00000289877	NM_001080397.1	12	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS30577.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGATGCCC	NONE	.	.	hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF6	.	.	ENSP00000418096	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000471889	Transcript	.	.	ENSG00000162426	17939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	deleterious_low_confidence(0.01)	.	S45A1_HUMAN	SLC45A1	HGNC	.	.	UPI000040EA42	SNV	SLC45A1,missense_variant,p.Asp12Val,ENST00000289877,;SLC45A1,missense_variant,p.Asp46Val,ENST00000377479,;SLC45A1,missense_variant,p.Asp12Val,ENST00000471889,;Y_RNA,upstream_gene_variant,,ENST00000516445,;	420	77	75	SUCCESS
RPAP2	79871	.	GRCh37	1	92846304	92846304	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	62	0	ENST00000610020.1:c.1712A>T	p.Gln571Leu	p.Q571L	ENST00000610020	NM_024813.2	571	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS740.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCAGAAAC	NONE	.	.	hmmpanther:PTHR14732:SF0,hmmpanther:PTHR14732	.	.	ENSP00000476948	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000610020	Transcript	.	.	ENSG00000122484	25791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	.	tolerated(0.66)	.	RPAP2_HUMAN	RPAP2	HGNC	.	.	UPI0000074323	SNV	RPAP2,missense_variant,p.Gln571Leu,ENST00000610020,;RPAP2,non_coding_transcript_exon_variant,,ENST00000477322,;	1821	62	62	SUCCESS
BCAR3	8412	.	GRCh37	1	94048433	94048433	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140733181	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	24	0	ENST00000260502.6:c.1111G>A	p.Glu371Lys	p.E371K	ENST00000260502	NM_003567.3	371	Gag/Aag	0	T:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS745.1	1111	MUTECT|MUSE	.	AGGCTCGCTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14247,hmmpanther:PTHR14247:SF10	.	T:0.0002	ENSP00000359264	.	9/14	.	.	.	.	.	.	.	.	rs140733181	9/14	PASS	ENST00000370244	Transcript	.	.	ENSG00000137936	973	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	BCAR3_HUMAN	BCAR3	HGNC	B3KNL6_HUMAN	.	UPI000000D971	SNV	BCAR3,missense_variant,p.Glu371Lys,ENST00000370243,;BCAR3,missense_variant,p.Glu47Lys,ENST00000539242,;BCAR3,missense_variant,p.Glu371Lys,ENST00000260502,;BCAR3,missense_variant,p.Glu280Lys,ENST00000370247,;BCAR3,missense_variant,p.Glu371Lys,ENST00000370244,;BCAR3,non_coding_transcript_exon_variant,,ENST00000466632,;	1400	24	35	SUCCESS
SEC23B	10483	.	GRCh37	20	18534971	18534971	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs763119847	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	72	0	ENST00000262544.2:c.2085A>T	p.Gln695His	p.Q695H	ENST00000262544		695	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS13137.1	2085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAAGAAAT	NONE	.	.	hmmpanther:PTHR11141:SF3,hmmpanther:PTHR11141,Gene3D:3.40.20.10,Pfam_domain:PF00626,Superfamily_domains:SSF82754	.	.	ENSP00000338844	.	18/20	.	.	.	.	.	.	.	.	rs763119847	18/20	PASS	ENST00000336714	Transcript	1	.	ENSG00000101310	10702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0.03)	.	SC23B_HUMAN	SEC23B	HGNC	Q5QPE2_HUMAN,B4DS04_HUMAN	.	UPI0000135455	SNV	SEC23B,missense_variant,p.Gln695His,ENST00000377475,;SEC23B,missense_variant,p.Gln695His,ENST00000377465,;SEC23B,missense_variant,p.Gln695His,ENST00000336714,;SEC23B,missense_variant,p.Gln174His,ENST00000422877,;SEC23B,missense_variant,p.Gln695His,ENST00000262544,;	2517	72	79	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20601245	20601245	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	95	0	ENST00000202677.7:c.1263T>A	p.Ala421=	p.A421=	ENST00000202677	NM_020343.3	421	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46584.1	1263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACAGCTAT	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	.	.	ENSP00000202677	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,synonymous_variant,p.%3D,ENST00000202677,;RALGAPA2,synonymous_variant,p.%3D,ENST00000430436,;	1271	95	95	SUCCESS
AL034548.1	0	.	GRCh37	20	280053	280053	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	58	0	ENST00000500893.2:n.1345A>T		p.*449*	ENST00000500893				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42844.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAAGGGCC	NONE	.	.	.	.	.	ENSP00000371789	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382352	Transcript	.	.	ENSG00000177764	16230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC3_HUMAN	ZCCHC3	HGNC	.	.	UPI00001285F2	SNV	ZCCHC3,3_prime_UTR_variant,,ENST00000382352,;AL034548.1,non_coding_transcript_exon_variant,,ENST00000500893,;	2317	58	97	SUCCESS
ID1	3397	.	GRCh37	20	30193298	30193298	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	72	0	ENST00000376112.3:c.108T>C	p.Ser36=	p.S36=	ENST00000376112	NM_002165.3	36	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS13185.1	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTGAGCA	NONE	.	.	hmmpanther:PTHR11723,hmmpanther:PTHR11723:SF4	.	.	ENSP00000365280	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376112	Transcript	.	.	ENSG00000125968	5360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID1_HUMAN	ID1	HGNC	.	.	UPI000012D18F	SNV	ID1,synonymous_variant,p.%3D,ENST00000376112,;ID1,synonymous_variant,p.%3D,ENST00000376105,;MIR3193,upstream_gene_variant,,ENST00000578262,;	213	72	73	SUCCESS
ADAM33	80332	.	GRCh37	20	3652923	3652923	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	89	0	ENST00000356518.2:c.1455T>A	p.Pro485=	p.P485=	ENST00000356518	NM_025220.2	485	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13058.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAGGGAG	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF38,hmmpanther:PTHR11905,Pfam_domain:PF00200,Gene3D:4.10.70.10,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000348912	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000356518	Transcript	1	.	ENSG00000149451	15478	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA33_HUMAN	ADAM33	HGNC	Q8N6B9_HUMAN	.	UPI0000048F2A	SNV	ADAM33,synonymous_variant,p.%3D,ENST00000356518,;ADAM33,synonymous_variant,p.%3D,ENST00000379861,;ADAM33,synonymous_variant,p.%3D,ENST00000350009,;ADAM33,non_coding_transcript_exon_variant,,ENST00000466620,;ADAM33,upstream_gene_variant,,ENST00000483362,;	1697	89	111	SUCCESS
R3HDML	140902	.	GRCh37	20	42966048	42966048	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs762149787	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	31	99	0	ENST00000217043.2:c.251T>A	p.Met84Lys	p.M84K	ENST00000217043	NM_178491.3	84	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS13329.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATGGAAT	NONE	.	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797	.	.	ENSP00000217043	.	1/5	.	.	.	.	.	.	.	.	rs762149787	1/5	PASS	ENST00000217043	Transcript	.	.	ENSG00000101074	16249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CRSPL_HUMAN	R3HDML	HGNC	.	.	UPI00000422F8	SNV	R3HDML,missense_variant,p.Met84Lys,ENST00000217043,;	423	99	121	SUCCESS
WISP2	0	.	GRCh37	20	43355869	43355869	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	46	0	ENST00000372868.2:c.674T>A	p.Leu225Gln	p.L225Q	ENST00000372868		225	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13336.1	674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACTGGAGA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF16,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000361959	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372868	Transcript	.	.	ENSG00000064205	12770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	WISP2_HUMAN	WISP2	HGNC	.	.	UPI0000037219	SNV	WISP2,missense_variant,p.Leu225Gln,ENST00000190983,;WISP2,missense_variant,p.Trp143Arg,ENST00000372865,;WISP2,missense_variant,p.Leu225Gln,ENST00000372868,;RP11-445H22.4,intron_variant,,ENST00000445420,;RP11-445H22.4,intron_variant,,ENST00000427303,;RP11-445H22.4,intron_variant,,ENST00000427598,;WISP2,non_coding_transcript_exon_variant,,ENST00000465000,;WISP2,non_coding_transcript_exon_variant,,ENST00000471629,;	1017	46	29	SUCCESS
SEMG1	6406	.	GRCh37	20	43836884	43836884	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	311	91	284	0	ENST00000372781.3:c.946A>T	p.Ser316Cys	p.S316C	ENST00000372781	NM_003007.3	316	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13345.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGCCAA	NONE	.	.	Pfam_domain:PF05474,Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	.	.	ENSP00000361867	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000372781	Transcript	.	.	ENSG00000124233	10742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	tolerated(0.05)	.	SEMG1_HUMAN	SEMG1	HGNC	Q6Y808_HUMAN	.	UPI0000135844	SNV	SEMG1,missense_variant,p.Ser316Cys,ENST00000372781,;SEMG1,intron_variant,,ENST00000244069,;	1003	284	402	SUCCESS
PARD6B	84612	.	GRCh37	20	49366413	49366413	+	synonymous_variant	Silent	SNP	A	A	T	rs769343965	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	47	149	0	ENST00000371610.2:c.507A>T	p.Leu169=	p.L169=	ENST00000371610	NM_032521.2	169	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33485.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTAGGATT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14102:SF4,hmmpanther:PTHR14102,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000360672	.	3/3	.	.	.	.	.	.	.	.	rs769343965	3/3	PASS	ENST00000371610	Transcript	.	.	ENSG00000124171	16245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR6B_HUMAN	PARD6B	HGNC	.	.	UPI000006FA7C	SNV	PARD6B,synonymous_variant,p.%3D,ENST00000371610,;PARD6B,intron_variant,,ENST00000396039,;	750	149	183	SUCCESS
FERMT1	55612	.	GRCh37	20	6064810	6064810	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	31	0	ENST00000217289.4:c.1595T>A	p.Leu532Gln	p.L532Q	ENST00000217289	NM_017671.4	532	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS13098.1	1595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCAGCTGA	NONE	.	.	hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295	.	.	ENSP00000217289	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000217289	Transcript	1	.	ENSG00000101311	15889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FERM1_HUMAN	FERMT1	HGNC	Q5JWV4_HUMAN,G3V1L6_HUMAN	.	UPI00001285DD	SNV	FERMT1,missense_variant,p.Leu275Gln,ENST00000536936,;FERMT1,missense_variant,p.Leu532Gln,ENST00000217289,;FERMT1,splice_region_variant,,ENST00000478194,;	2384	31	38	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19666925	19666925	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs770706751	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	74	255	0	ENST00000284885.3:c.2306A>T	p.His769Leu	p.H769L	ENST00000284885	NM_002772.2	769	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS13571.1	2306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATGGTTA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Gene3D:3.10.250.10,Pfam_domain:PF15494,Superfamily_domains:SSF56487,Superfamily_domains:SSF50494	.	.	ENSP00000284885	.	20/25	.	.	.	.	.	.	.	.	rs770706751	20/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.62)	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,missense_variant,p.His769Leu,ENST00000284885,;	2340	255	323	SUCCESS
LTN1	26046	.	GRCh37	21	30341864	30341864	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	66	0	ENST00000361371.5:c.1235T>G	p.Phe412Cys	p.F412C	ENST00000361371		412	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS33527.2	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAAAAGCA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12389	.	.	ENSP00000373846	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000389194	Transcript	.	.	ENSG00000198862	13082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	LTN1_HUMAN	LTN1	HGNC	G1UI34_HUMAN	.	UPI000049DF6C	SNV	LTN1,missense_variant,p.Phe412Cys,ENST00000361371,;LTN1,missense_variant,p.Phe458Cys,ENST00000389195,;LTN1,missense_variant,p.Phe458Cys,ENST00000389194,;LTN1,missense_variant,p.Phe341Cys,ENST00000483326,;	1379	66	75	SUCCESS
IGLV3-9	28804	.	GRCh37	22	23162044	23162044	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749225592	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	33	101	0	ENST00000390316.2:c.137T>A	p.Ile46Asn	p.I46N	ENST00000390316		46	aTt/aAt	0	.	.	.	.	.	A	I/N	IG_V_gene	YES	.	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATTGGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000374851	.	2/2	.	.	.	.	.	.	.	.	rs749225592	2/2	PASS	ENST00000390316	Transcript	.	.	ENSG00000211670	5918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0)	.	.	IGLV3-9	HGNC	A2MYD5_HUMAN	.	UPI0000EE5A41	SNV	IGLV3-9,missense_variant,p.Ile46Asn,ENST00000390316,;IGLV2-8,upstream_gene_variant,,ENST00000390317,;MIR650,upstream_gene_variant,,ENST00000385101,;LL22NC03-84E4.11,downstream_gene_variant,,ENST00000423259,;	252	101	150	SUCCESS
ZDHHC8P1	150244	.	GRCh37	22	23742039	23742039	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	18	0	ENST00000420968.1:n.1057T>A		p.*353*	ENST00000420968				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCAGGCGC	NONE	.	.	.	.	.	.	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000420968	Transcript	.	.	ENSG00000133519	26461	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZDHHC8P1	HGNC	.	.	.	SNV	ZDHHC8P1,non_coding_transcript_exon_variant,,ENST00000255890,;ZDHHC8P1,non_coding_transcript_exon_variant,,ENST00000433168,;ZDHHC8P1,non_coding_transcript_exon_variant,,ENST00000420968,;ZDHHC8P1,upstream_gene_variant,,ENST00000456279,;ZDHHC8P1,non_coding_transcript_exon_variant,,ENST00000418264,;	1057	18	18	SUCCESS
SEZ6L	23544	.	GRCh37	22	26707784	26707784	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	30	121	0	ENST00000248933.6:c.1732A>T	p.Thr578Ser	p.T578S	ENST00000248933		578	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS13833.1	1732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCACTACA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS50923	.	.	ENSP00000248933	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	.	tolerated(0.34)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Thr578Ser,ENST00000529632,;SEZ6L,missense_variant,p.Thr578Ser,ENST00000248933,;SEZ6L,missense_variant,p.Thr578Ser,ENST00000360929,;SEZ6L,missense_variant,p.Thr578Ser,ENST00000343706,;SEZ6L,missense_variant,p.Thr351Ser,ENST00000402979,;SEZ6L,missense_variant,p.Thr351Ser,ENST00000403121,;SEZ6L,missense_variant,p.Thr578Ser,ENST00000404234,;	1827	121	112	SUCCESS
SLC5A1	6523	.	GRCh37	22	32480985	32480985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	73	0	ENST00000266088.4:c.984G>A	p.Met328Ile	p.M328I	ENST00000266088	NM_000343.3	328	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS13902.1	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATGGTGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266088	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000266088	Transcript	.	.	ENSG00000100170	11036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.5)	.	SC5A1_HUMAN	SLC5A1	HGNC	A4QPH0_HUMAN	.	UPI00001359EA	SNV	SLC5A1,missense_variant,p.Met201Ile,ENST00000543737,;SLC5A1,missense_variant,p.Met328Ile,ENST00000266088,;SLC5A1,non_coding_transcript_exon_variant,,ENST00000477969,;SLC5A1,non_coding_transcript_exon_variant,,ENST00000486394,;	1234	73	86	SUCCESS
FAM227A	646851	.	GRCh37	22	39016298	39016298	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	50	0	ENST00000535113.1:c.959-2A>T		p.X320_splice	ENST00000535113	NM_001013647.1	320		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCTATAGA	NONE	.	.	.	.	.	ENSP00000385758	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406767	Transcript	.	.	ENSG00000184949	44197	.	.	HIGH	10/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM227A	HGNC	I3L0D2_HUMAN	.	UPI00020658AF	SNV	FAM227A,splice_acceptor_variant,,ENST00000535113,;FAM227A,splice_acceptor_variant,,ENST00000406767,;FAM227A,splice_acceptor_variant,,ENST00000355830,;FAM227A,splice_acceptor_variant,,ENST00000540952,;FAM227A,splice_acceptor_variant,,ENST00000543295,;FAM227A,splice_acceptor_variant,,ENST00000544346,;FAM227A,splice_acceptor_variant,,ENST00000541689,;	.	50	64	SUCCESS
TOMM22	56993	.	GRCh37	22	39078326	39078326	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	69	0	ENST00000216034.4:c.118-2A>T		p.X40_splice	ENST00000216034	NM_020243.4	40		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13975.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAGCTAG	NONE	.	.	.	.	.	ENSP00000216034	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216034	Transcript	.	.	ENSG00000100216	18002	.	.	HIGH	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM22_HUMAN	TOMM22	HGNC	Q549C5_HUMAN	.	UPI0000040C1F	SNV	TOMM22,splice_acceptor_variant,,ENST00000216034,;JOSD1,downstream_gene_variant,,ENST00000216039,;RP3-508I15.9,upstream_gene_variant,,ENST00000412067,;RP3-508I15.9,upstream_gene_variant,,ENST00000444381,;RP3-508I15.9,upstream_gene_variant,,ENST00000431924,;TOMM22,non_coding_transcript_exon_variant,,ENST00000492561,;	.	69	56	SUCCESS
TNRC6B	23112	.	GRCh37	22	40708618	40708618	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	63	0	ENST00000454349.2:c.4545A>T	p.Val1515=	p.V1515=	ENST00000454349	NM_001162501.1	1515	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54533.1	4545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTAGATAC	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32	.	.	ENSP00000401946	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000454349	Transcript	.	.	ENSG00000100354	29190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR6B_HUMAN	TNRC6B	HGNC	.	.	UPI00017A6F19	SNV	TNRC6B,synonymous_variant,p.%3D,ENST00000454349,;TNRC6B,synonymous_variant,p.%3D,ENST00000446273,;TNRC6B,synonymous_variant,p.%3D,ENST00000402203,;TNRC6B,synonymous_variant,p.%3D,ENST00000301923,;TNRC6B,synonymous_variant,p.%3D,ENST00000335727,;	4756	63	76	SUCCESS
CHST10	9486	.	GRCh37	2	101023082	101023082	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	89	0	ENST00000264249.3:c.56T>C	p.Met19Thr	p.M19T	ENST00000264249	NM_004854.4	19	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS2047.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCATGAAC	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF2	.	.	ENSP00000264249	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious_low_confidence(0)	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,missense_variant,p.Met19Thr,ENST00000418201,;CHST10,missense_variant,p.Met19Thr,ENST00000420858,;CHST10,missense_variant,p.Met67Thr,ENST00000448989,;CHST10,missense_variant,p.Met19Thr,ENST00000409046,;CHST10,missense_variant,p.Met67Thr,ENST00000542617,;CHST10,missense_variant,p.Met19Thr,ENST00000264249,;CHST10,missense_variant,p.Met19Thr,ENST00000409701,;CHST10,missense_variant,p.Met19Thr,ENST00000421474,;CHST10,missense_variant,p.Met19Thr,ENST00000435960,;CHST10,non_coding_transcript_exon_variant,,ENST00000484382,;CHST10,downstream_gene_variant,,ENST00000485085,;CHST10,downstream_gene_variant,,ENST00000487860,;	442	89	119	SUCCESS
RGPD4	285190	.	GRCh37	2	108488645	108488645	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	101	0	ENST00000408999.3:c.4185A>T	p.Ile1395=	p.I1395=	ENST00000408999	NM_182588.2	1395	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS46381.1	4185	RADIA|MUTECT|MUSE|VARSCANS	.	CGTATAGTGAT	BUFFER|p.R1394C|c.4180C>T|4,BUFFER|p.R1394C|c.4180C>T|3	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	4262	101	108	SUCCESS
NTSR2	23620	.	GRCh37	2	11798756	11798756	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	63	0	ENST00000306928.5:c.1082T>A	p.Val361Glu	p.V361E	ENST00000306928	NM_012344.3	361	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS1681.1	1082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACACGGCG	NONE	.	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000303686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000306928	Transcript	.	.	ENSG00000169006	8040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	deleterious(0)	.	NTR2_HUMAN	NTSR2	HGNC	.	.	UPI000013EBAA	SNV	NTSR2,missense_variant,p.Val361Glu,ENST00000306928,;	1117	63	102	SUCCESS
POTEE	445582	.	GRCh37	2	131981274	131981274	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	41	152	0	ENST00000356920.5:c.627T>A	p.Ala209=	p.A209=	ENST00000356920	NM_001083538.1	209	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46414.1	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTCTGAT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000439189	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,synonymous_variant,p.%3D,ENST00000356920,;POTEE,synonymous_variant,p.%3D,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	721	152	184	SUCCESS
THSD7B	80731	.	GRCh37	2	138420981	138420981	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	55	163	0	ENST00000272643.3:c.4496A>T	p.Tyr1499Phe	p.Y1499F	ENST00000272643		1499	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	.	4496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTATACAG	NONE	.	.	hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311	.	.	ENSP00000272643	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.19)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Ile331Leu,ENST00000543459,;THSD7B,missense_variant,p.Tyr1496Phe,ENST00000409968,;THSD7B,missense_variant,p.Tyr1468Phe,ENST00000413152,;THSD7B,missense_variant,p.Tyr1499Phe,ENST00000272643,;	4496	163	233	SUCCESS
RIF1	55183	.	GRCh37	2	152298453	152298453	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	300	101	311	0	ENST00000243326.5:c.1682A>T	p.Gln561Leu	p.Q561L	ENST00000243326		561	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS2194.1	1682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCAGAAAG	NONE	.	.	hmmpanther:PTHR22928,Superfamily_domains:SSF48371	.	.	ENSP00000243326	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000243326	Transcript	.	.	ENSG00000080345	23207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated(0.12)	.	RIF1_HUMAN	RIF1	HGNC	C9J1D6_HUMAN,B4DRJ4_HUMAN	.	UPI000023729F	SNV	RIF1,missense_variant,p.Gln553Leu,ENST00000414861,;RIF1,missense_variant,p.Gln561Leu,ENST00000444746,;RIF1,missense_variant,p.Gln561Leu,ENST00000453091,;RIF1,missense_variant,p.Gln561Leu,ENST00000428287,;RIF1,missense_variant,p.Gln561Leu,ENST00000243326,;RIF1,missense_variant,p.Gln561Leu,ENST00000430328,;RIF1,3_prime_UTR_variant,,ENST00000433166,;	2165	311	402	SUCCESS
NBAS	51594	.	GRCh37	2	15374696	15374696	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	43	0	ENST00000281513.5:c.6119C>T	p.Ala2040Val	p.A2040V	ENST00000281513	NM_015909.3	2040	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1685.1	6119	MUTECT|MUSE	.	TGATTGCACTC	NONE	.	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	46/52	.	.	.	.	.	.	.	.	.	46/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.772)	.	deleterious(0)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Ala1920Val,ENST00000441750,;NBAS,missense_variant,p.Ala2040Val,ENST00000281513,;NBAS,missense_variant,p.Ala1088Val,ENST00000442506,;NBAS,missense_variant,p.Ala132Val,ENST00000417461,;	6145	43	43	SUCCESS
TANC1	85461	.	GRCh37	2	160086384	160086384	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370179463	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	35	109	0	ENST00000263635.6:c.4447G>T	p.Val1483Phe	p.V1483F	ENST00000263635	NM_033394.2	1483	Gtc/Ttc	0	A:0	.	.	.	.	T	V/F	protein_coding	YES	CCDS42766.1	4447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGTCCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24166:SF23,hmmpanther:PTHR24166,Low_complexity_(Seg):seg	.	A:0.0001	ENSP00000263635	.	27/27	.	.	.	.	.	.	.	.	rs370179463	27/27	PASS	ENST00000263635	Transcript	.	.	ENSG00000115183	29364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated_low_confidence(0.71)	.	TANC1_HUMAN	TANC1	HGNC	.	.	UPI0000421D80	SNV	TANC1,missense_variant,p.Val1483Phe,ENST00000263635,;TANC1,missense_variant,p.Val1377Phe,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000496406,;TANC1,non_coding_transcript_exon_variant,,ENST00000470074,;	4684	109	142	SUCCESS
PLA2R1	22925	.	GRCh37	2	160873149	160873149	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	81	0	ENST00000283243.7:c.1527T>A	p.Ser509=	p.S509=	ENST00000283243	NM_001195641.1	509	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33309.1	1527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCAGAGAG	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803	.	.	ENSP00000283243	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,synonymous_variant,p.%3D,ENST00000283243,;PLA2R1,synonymous_variant,p.%3D,ENST00000392771,;	1734	81	91	SUCCESS
SCN3A	6328	.	GRCh37	2	165987869	165987869	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	64	232	0	ENST00000360093.3:c.2450A>C	p.Tyr817Ser	p.Y817S	ENST00000360093	NM_001081677.1	817	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS33312.1	2450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAATAAGGA	NONE	.	.	hmmpanther:PTHR10037:SF200,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000283254	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0)	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,missense_variant,p.Tyr768Ser,ENST00000440431,;SCN3A,missense_variant,p.Tyr817Ser,ENST00000360093,;SCN3A,missense_variant,p.Tyr817Ser,ENST00000283254,;SCN3A,missense_variant,p.Tyr768Ser,ENST00000409101,;SCN3A,upstream_gene_variant,,ENST00000484898,;	2918	232	277	SUCCESS
GAD1	2571	.	GRCh37	2	171705847	171705847	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1290731220	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	37	0	ENST00000358196.3:c.1171A>T	p.Asn391Tyr	p.N391Y	ENST00000358196	NM_000817.2	391	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS2239.1	1171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAACGGC	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF57,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000350928	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000358196	Transcript	.	.	ENSG00000128683	4092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.797)	.	deleterious(0.03)	.	DCE1_HUMAN	GAD1	HGNC	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN	.	UPI000002D729	SNV	GAD1,missense_variant,p.Asn391Tyr,ENST00000358196,;GAD1,3_prime_UTR_variant,,ENST00000414527,;GAD1,3_prime_UTR_variant,,ENST00000493875,;GAD1,non_coding_transcript_exon_variant,,ENST00000488724,;GAD1,downstream_gene_variant,,ENST00000462739,;GAD1,upstream_gene_variant,,ENST00000478562,;	1721	37	41	SUCCESS
PDE11A	50940	.	GRCh37	2	178528616	178528616	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	66	0	ENST00000286063.6:c.2624G>A	p.Ser875Asn	p.S875N	ENST00000286063	NM_016953.3	875	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS33334.1	2624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCTATCA	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000286063	.	19/20	.	.	.	.	.	.	.	.	COSM276684,COSM276685	19/20	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.587)	.	tolerated(0.05)	1,1	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,missense_variant,p.Ser625Asn,ENST00000358450,;PDE11A,missense_variant,p.Ser66Asn,ENST00000450799,;PDE11A,missense_variant,p.Ser875Asn,ENST00000286063,;PDE11A,missense_variant,p.Ser431Asn,ENST00000389683,;PDE11A,missense_variant,p.Ser78Asn,ENST00000436700,;PDE11A,missense_variant,p.Ser517Asn,ENST00000449286,;PDE11A,missense_variant,p.Ser517Asn,ENST00000409504,;PDE11A,non_coding_transcript_exon_variant,,ENST00000488399,;PDE11A,non_coding_transcript_exon_variant,,ENST00000478646,;	2942	66	64	SUCCESS
TTN	7273	.	GRCh37	2	179410419	179410419	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	25	102	0	ENST00000591111.1:c.90495T>C		p.X30165_splice	ENST00000591111		30165	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS59435.1	95418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATAGCTGT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10	.	.	ENSP00000467141	.	344/363	.	.	.	.	.	.	.	.	.	344/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;	95643	102	112	SUCCESS
TTN	7273	.	GRCh37	2	179644602	179644602	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	21	0	ENST00000591111.1:c.3729+125T>A		p.*1243*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	MUTECT|MUSE	.	GCAACAGTGAA	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	22/362	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000360870,;TTN,intron_variant,,ENST00000460472,;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;	.	21	26	SUCCESS
CWC22	57703	.	GRCh37	2	180835257	180835257	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	48	203	0	ENST00000410053.3:c.1181A>T	p.Asn394Ile	p.N394I	ENST00000410053	NM_020943.2	394	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS46465.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATTCTCC	NONE	.	.	hmmpanther:PTHR18034:SF3,hmmpanther:PTHR18034,Superfamily_domains:SSF48371	.	.	ENSP00000387006	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000410053	Transcript	.	.	ENSG00000163510	29322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0)	.	CWC22_HUMAN	CWC22	HGNC	B7WP74_HUMAN	.	UPI00001C1DAE	SNV	CWC22,missense_variant,p.Asn394Ile,ENST00000404136,;CWC22,missense_variant,p.Asn394Ile,ENST00000410053,;CWC22,missense_variant,p.Asn394Ile,ENST00000295749,;	1481	203	232	SUCCESS
FRZB	2487	.	GRCh37	2	183699694	183699694	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	63	0	ENST00000295113.4:c.862-2A>T		p.X288_splice	ENST00000295113	NM_001463.3	288		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2286.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCTGTGAA	NONE	.	.	.	.	.	ENSP00000295113	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295113	Transcript	.	.	ENSG00000162998	3959	.	.	HIGH	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFRP3_HUMAN	FRZB	HGNC	D9ZGF6_HUMAN,Q53QT6_HUMAN,Q53QN4_HUMAN	.	UPI0000051054	SNV	FRZB,splice_acceptor_variant,,ENST00000295113,;	.	63	70	SUCCESS
CCDC150	284992	.	GRCh37	2	197540923	197540923	+	synonymous_variant	Silent	SNP	A	A	T	rs367679012	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	58	196	0	ENST00000389175.4:c.1194A>T	p.Ala398=	p.A398=	ENST00000389175	NM_001080539.1	398	gcA/gcT	0	G:0	.	.	.	.	T	A	protein_coding	YES	CCDS46478.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCAGCCCA	NONE	byCluster	.	.	.	G:0.0001	ENSP00000373827	.	11/28	.	.	.	.	.	.	.	.	rs367679012	11/28	PASS	ENST00000389175	Transcript	.	.	ENSG00000144395	26834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC150_HUMAN	CCDC150	HGNC	.	.	UPI0000DD7A7C	SNV	CCDC150,synonymous_variant,p.%3D,ENST00000389175,;CCDC150,synonymous_variant,p.%3D,ENST00000272831,;CCDC150,synonymous_variant,p.%3D,ENST00000423093,;CCDC150,3_prime_UTR_variant,,ENST00000472405,;CCDC150,non_coding_transcript_exon_variant,,ENST00000498512,;CCDC150,non_coding_transcript_exon_variant,,ENST00000497159,;CCDC150,non_coding_transcript_exon_variant,,ENST00000495513,;CCDC150,upstream_gene_variant,,ENST00000469429,;CCDC150,3_prime_UTR_variant,,ENST00000431807,;	1329	196	232	SUCCESS
MAP2	4133	.	GRCh37	2	210560487	210560487	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	105	0	ENST00000360351.4:c.3593A>T	p.Gln1198Leu	p.Q1198L	ENST00000360351	NM_002374.3	1198	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS2384.1	3593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCAGGGGC	NONE	.	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	COSM385347	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.41)	.	tolerated_low_confidence(0.06)	1	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Gln1194Leu,ENST00000447185,;MAP2,missense_variant,p.Gln1198Leu,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	4099	105	125	SUCCESS
UNC80	285175	.	GRCh37	2	210778581	210778581	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	31	184	0	ENST00000439458.1:c.4748T>A	p.Leu1583Gln	p.L1583Q	ENST00000439458	NM_032504.1	1583	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46504.1	4748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGACAG	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	30/64	.	.	.	.	.	.	.	.	.	30/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Leu1583Gln,ENST00000439458,;UNC80,missense_variant,p.Leu1578Gln,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	4828	184	155	SUCCESS
UNC80	285175	.	GRCh37	2	210858068	210858068	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	27	91	0	ENST00000439458.1:c.9228A>T	p.Lys3076Asn	p.K3076N	ENST00000439458	NM_032504.1	3076	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS46504.1	9228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAAACTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	62/64	.	.	.	.	.	.	.	.	.	62/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Lys3076Asn,ENST00000439458,;UNC80,missense_variant,p.Lys3052Asn,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	9308	91	122	SUCCESS
ABCA12	26154	.	GRCh37	2	215840627	215840627	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs763979331	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	58	130	0	ENST00000272895.7:c.5263A>T	p.Ile1755Phe	p.I1755F	ENST00000272895	NM_173076.2	1755	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS33372.1	5263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGATGGGGA	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	34/53	.	.	.	.	.	.	.	.	rs763979331	34/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	deleterious(0)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Ile1437Phe,ENST00000389661,;ABCA12,missense_variant,p.Ile1755Phe,ENST00000272895,;	5483	130	189	SUCCESS
RESP18	389075	.	GRCh37	2	220194381	220194381	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	80	0	ENST00000333527.5:c.443T>A	p.Leu148His	p.L148H	ENST00000333527	NM_001007089.3	148	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS33382.2	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAAGTGCC	NONE	.	.	hmmpanther:PTHR17314,hmmpanther:PTHR17314:SF0,Pfam_domain:PF14948	.	.	ENSP00000330269	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000333527	Transcript	.	.	ENSG00000182698	33762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	deleterious_low_confidence(0.02)	.	RES18_HUMAN	RESP18	HGNC	.	.	UPI0000F576C0	SNV	RESP18,missense_variant,p.Leu24His,ENST00000392083,;RESP18,missense_variant,p.Leu148His,ENST00000333527,;RESP18,non_coding_transcript_exon_variant,,ENST00000470719,;	443	80	104	SUCCESS
EPHA4	2043	.	GRCh37	2	222365815	222365815	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	52	0	ENST00000281821.2:c.901T>A	p.Trp301Arg	p.W301R	ENST00000281821	NM_004438.3	301	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS2447.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAGACAG	NONE	.	.	PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416	.	.	ENSP00000281821	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.65)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Trp301Arg,ENST00000281821,;EPHA4,missense_variant,p.Trp38Arg,ENST00000441679,;EPHA4,missense_variant,p.Trp301Arg,ENST00000409854,;EPHA4,missense_variant,p.Trp250Arg,ENST00000392071,;EPHA4,missense_variant,p.Trp301Arg,ENST00000409938,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	943	52	61	SUCCESS
DPYSL5	56896	.	GRCh37	2	27121452	27121452	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	34	199	0	ENST00000288699.6:c.85T>A	p.Tyr29Asn	p.Y29N	ENST00000288699	NM_001253724.1	29	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS1730.1	85	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCTACATC	NONE	.	.	hmmpanther:PTHR11647:SF58,hmmpanther:PTHR11647,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51338	.	.	ENSP00000288699	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000288699	Transcript	.	.	ENSG00000157851	20637	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	DPYL5_HUMAN	DPYSL5	HGNC	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN	.	UPI00000411CF	SNV	DPYSL5,missense_variant,p.Tyr29Asn,ENST00000450961,;DPYSL5,missense_variant,p.Tyr29Asn,ENST00000434719,;DPYSL5,missense_variant,p.Tyr29Asn,ENST00000288699,;DPYSL5,missense_variant,p.Tyr29Asn,ENST00000431402,;DPYSL5,missense_variant,p.Tyr29Asn,ENST00000401478,;	243	199	193	SUCCESS
LRPPRC	10128	.	GRCh37	2	44187687	44187687	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	47	0	ENST00000260665.7:c.1575A>T	p.Leu525Phe	p.L525F	ENST00000260665	NM_133259.3	525	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS33189.1	1575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATAATAC	NONE	.	.	hmmpanther:PTHR24015:SF0,hmmpanther:PTHR24015	.	.	ENSP00000260665	.	13/38	.	.	.	.	.	.	.	.	.	13/38	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.15)	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,missense_variant,p.Leu525Phe,ENST00000260665,;LRPPRC,missense_variant,p.Leu525Phe,ENST00000409946,;LRPPRC,downstream_gene_variant,,ENST00000409659,;LRPPRC,non_coding_transcript_exon_variant,,ENST00000467058,;	1633	47	67	SUCCESS
TSPYL6	388951	.	GRCh37	2	54483166	54483166	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	86	0	ENST00000317802.7:c.123T>C	p.Asp41=	p.D41=	ENST00000317802	NM_001003937.2	41	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS42682.1	123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCATCAAA	NONE	.	.	.	.	.	ENSP00000417919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317802	Transcript	.	.	ENSG00000178021	14521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSYL6_HUMAN	TSPYL6	HGNC	.	.	UPI000006CF77	SNV	TSPYL6,synonymous_variant,p.%3D,ENST00000317802,;ACYP2,intron_variant,,ENST00000394666,;ACYP2,intron_variant,,ENST00000303536,;ACYP2,intron_variant,,ENST00000606865,;ACYP2,intron_variant,,ENST00000607452,;ACYP2,intron_variant,,ENST00000494922,;	244	86	78	SUCCESS
M1AP	130951	.	GRCh37	2	74834195	74834195	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	36	1	ENST00000290536.5:c.582T>A	p.Asp194Glu	p.D194E	ENST00000290536	NM_138804.4	194	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS33229.1	582	SOMATICSNIPER|MUTECT|VARSCANS	.	CTGGTATCCTC	NONE	.	.	.	.	.	ENSP00000290536	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000290536	Transcript	.	.	ENSG00000159374	25183	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	M1AP_HUMAN	M1AP	HGNC	C9JPR9_HUMAN	.	UPI0000072570	SNV	M1AP,missense_variant,p.Asp194Glu,ENST00000536235,;M1AP,missense_variant,p.Asp194Glu,ENST00000409585,;M1AP,missense_variant,p.Asp194Glu,ENST00000290536,;M1AP,5_prime_UTR_variant,,ENST00000358434,;M1AP,downstream_gene_variant,,ENST00000478437,;M1AP,intron_variant,,ENST00000422394,;M1AP,intron_variant,,ENST00000438226,;	699	37	49	SUCCESS
IGKV1-16	28938	.	GRCh37	2	89399592	89399592	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	46	155	0	ENST00000479981.1:c.111A>T	p.Val37=	p.V37=	ENST00000479981		37	gtA/gtT	0	.	.	.	.	.	A	V	IG_V_gene	YES	.	111	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTACAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000417344	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000479981	Transcript	.	.	ENSG00000240864	5732	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGKV1-16	HGNC	.	.	UPI000173A597	SNV	IGKV1-16,synonymous_variant,p.%3D,ENST00000479981,;	138	155	160	SUCCESS
LMAN2L	81562	.	GRCh37	2	97373021	97373021	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1449172958	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	36	149	0	ENST00000264963.4:c.1019A>T	p.Gln340Leu	p.Q340L	ENST00000264963	NM_030805.3	340	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS46365.1	1052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTGCCAT	NONE	byFrequency	.	hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF20	.	.	ENSP00000366280	.	9/9	.	.	.	.	.	.	.	.	rs781545598	9/9	PASS	ENST00000377079	Transcript	.	.	ENSG00000114988	19263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	deleterious(0.02)	.	LMA2L_HUMAN	LMAN2L	HGNC	B4DI83_HUMAN	.	UPI000044099B	SNV	LMAN2L,missense_variant,p.Gln206Leu,ENST00000426463,;LMAN2L,missense_variant,p.Gln351Leu,ENST00000377079,;LMAN2L,missense_variant,p.Gln202Leu,ENST00000537039,;LMAN2L,missense_variant,p.Gln340Leu,ENST00000264963,;LMAN2L,missense_variant,p.Gln195Leu,ENST00000534882,;LMAN2L,3_prime_UTR_variant,,ENST00000440610,;LMAN2L,3_prime_UTR_variant,,ENST00000449221,;LMAN2L,3_prime_UTR_variant,,ENST00000434524,;LMAN2L,3_prime_UTR_variant,,ENST00000434865,;LMAN2L,3_prime_UTR_variant,,ENST00000446780,;LMAN2L,downstream_gene_variant,,ENST00000474494,;FER1L5,downstream_gene_variant,,ENST00000457909,;LMAN2L,downstream_gene_variant,,ENST00000480869,;FER1L5,downstream_gene_variant,,ENST00000424961,;FER1L5,downstream_gene_variant,,ENST00000436930,;FER1L5,downstream_gene_variant,,ENST00000414152,;FER1L5,downstream_gene_variant,,ENST00000397978,;	1076	149	155	SUCCESS
SPICE1	152185	.	GRCh37	3	113218394	113218394	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	68	0	ENST00000295872.4:c.183A>T	p.Arg61Ser	p.R61S	ENST00000295872	NM_144718.3	61	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS2973.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTCTATT	NONE	.	.	hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2	.	.	ENSP00000295872	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000295872	Transcript	.	.	ENSG00000163611	25083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SPICE_HUMAN	SPICE1	HGNC	C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN	.	UPI000007328D	SNV	SPICE1,missense_variant,p.Arg61Ser,ENST00000495812,;SPICE1,missense_variant,p.Arg61Ser,ENST00000295872,;SPICE1,missense_variant,p.Arg61Ser,ENST00000480527,;SPICE1,non_coding_transcript_exon_variant,,ENST00000460832,;	443	68	94	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119133709	119133709	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	63	0	ENST00000264245.4:c.2933T>A	p.Leu978His	p.L978H	ENST00000264245	NM_020754.2	978	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS43135.1	2933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCTTGAAA	NONE	.	.	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,missense_variant,p.Leu978His,ENST00000264245,;	3465	63	104	SUCCESS
TMEM39A	55254	.	GRCh37	3	119156670	119156670	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs763324461	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	32	97	0	ENST00000319172.5:c.856A>T	p.Lys286Ter	p.K286*	ENST00000319172	NM_018266.2	286	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2987.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGATTC	NONE	.	.	hmmpanther:PTHR12995:SF3,hmmpanther:PTHR12995,Pfam_domain:PF10271	.	.	ENSP00000326063	.	6/9	.	.	.	.	.	.	.	.	rs763324461	6/9	PASS	ENST00000319172	Transcript	.	.	ENSG00000176142	25600	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM39A_HUMAN	TMEM39A	HGNC	C9JYN8_HUMAN,C9JUZ6_HUMAN,C9IYN1_HUMAN	.	UPI00000715E5	SNV	TMEM39A,stop_gained,p.Lys286Ter,ENST00000319172,;TMEM39A,stop_gained,p.Lys132Ter,ENST00000491685,;TMEM39A,downstream_gene_variant,,ENST00000486159,;TMEM39A,3_prime_UTR_variant,,ENST00000438581,;TMEM39A,non_coding_transcript_exon_variant,,ENST00000468545,;TMEM39A,upstream_gene_variant,,ENST00000473684,;	1277	97	157	SUCCESS
POLQ	10721	.	GRCh37	3	121208682	121208682	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	54	0	ENST00000264233.5:c.3096A>T	p.Ser1032=	p.S1032=	ENST00000264233	NM_199420.3	1032	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33833.1	3096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGAATT	NONE	.	.	.	.	.	ENSP00000264233	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,synonymous_variant,p.%3D,ENST00000264233,;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	3225	54	86	SUCCESS
COL6A6	131873	.	GRCh37	3	130287376	130287376	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	23	0	ENST00000358511.6:c.2329T>A	p.Tyr777Asn	p.Y777N	ENST00000358511	NM_001102608.1	777	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS46911.1	2329	MUTECT|MUSE	.	TTTTTTATGTT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Tyr777Asn,ENST00000453409,;COL6A6,missense_variant,p.Tyr777Asn,ENST00000358511,;	2360	23	36	SUCCESS
NEK11	79858	.	GRCh37	3	130871532	130871543	+	inframe_deletion	In_Frame_Del	DEL	TTACCTTGATGA	TTACCTTGATGA	-	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	TTACCTTGATGA	TTACCTTGATGA	.	.	.	.	.	.	.	.	.	.	.	.	.	173	28	169	0	ENST00000383366.4:c.855_866del	p.Tyr286_Glu289del	p.Y286_E289del	ENST00000383366	NM_024800.4	285	ccTTACCTTGATGAg/ccg	0	.	.	.	.	.	-	PYLDE/P	protein_coding	YES	CCDS3069.1	855-866	VARSCANI*|PINDEL	.	AATCCCTTACCTTGATGAGCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000372857	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000383366	Transcript	.	.	ENSG00000114670	18593	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEK11_HUMAN	NEK11	HGNC	.	.	UPI000013F25D	deletion	NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000383366,;NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000511262,;NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000508196,;NEK11,inframe_deletion,p.Tyr138_Glu141del,ENST00000412440,;NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000510688,;NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000429253,;NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000356918,;NEK11,inframe_deletion,p.Tyr286_Glu289del,ENST00000507910,;NEK11,intron_variant,,ENST00000510769,;NEK11,non_coding_transcript_exon_variant,,ENST00000510926,;NEK11,non_coding_transcript_exon_variant,,ENST00000426022,;NEK11,3_prime_UTR_variant,,ENST00000514915,;NEK11,3_prime_UTR_variant,,ENST00000510474,;NEK11,downstream_gene_variant,,ENST00000602792,;NEK11,upstream_gene_variant,,ENST00000515636,;	1148-1159	169	201	SUCCESS
IGSF10	285313	.	GRCh37	3	151171236	151171236	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	30	136	0	ENST00000282466.3:c.651T>A	p.His217Gln	p.H217Q	ENST00000282466	NM_178822.4	217	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS3160.1	651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATGCAG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000282466	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.His217Gln,ENST00000282466,;	651	136	164	SUCCESS
PLCH1	23007	.	GRCh37	3	155198967	155198967	+	synonymous_variant	Silent	SNP	A	A	T	rs201081912	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	55	108	0	ENST00000340059.7:c.4872T>A	p.Pro1624=	p.P1624=	ENST00000340059	NM_001130960.1	1624	ccT/ccA	0	G:0	G:0	.	G:0	.	T	P	protein_coding	YES	CCDS46939.1	4872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAGGGGT	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0001	ENSP00000345988	G:0.002	23/23	.	.	.	.	.	.	.	.	rs201081912	23/23	PASS	ENST00000340059	Transcript	.	G:0.0004	ENSG00000114805	29185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PLCH1_HUMAN	PLCH1	HGNC	.	.	UPI00001D800E	SNV	PLCH1,synonymous_variant,p.%3D,ENST00000334686,;PLCH1,synonymous_variant,p.%3D,ENST00000414191,;PLCH1,synonymous_variant,p.%3D,ENST00000340059,;PLCH1,synonymous_variant,p.%3D,ENST00000460012,;PLCH1,3_prime_UTR_variant,,ENST00000447496,;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	4872	108	150	SUCCESS
GMPS	8833	.	GRCh37	3	155640020	155640020	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	335	164	328	0	ENST00000496455.2:c.1363A>G	p.Ile455Val	p.I455V	ENST00000496455	NM_003875.2	455	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46941.1	1363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATATTTGT	NONE	.	.	Superfamily_domains:SSF52402,Superfamily_domains:0047036,Gene3D:3.30.300.10,hmmpanther:PTHR11922:SF2,hmmpanther:PTHR11922	.	.	ENSP00000419851	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000496455	Transcript	.	.	ENSG00000163655	4378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.34)	.	GUAA_HUMAN	GMPS	HGNC	A8K639_HUMAN	.	UPI0000000CC6	SNV	GMPS,missense_variant,p.Ile455Val,ENST00000496455,;GMPS,missense_variant,p.Ile356Val,ENST00000295920,;	1698	328	500	SUCCESS
OPA1	4976	.	GRCh37	3	193353249	193353249	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	236	81	215	0	ENST00000392438.3:c.721A>T	p.Lys241Ter	p.K241*	ENST00000392438	NM_015560.2	241	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS33917.1	832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACAAAGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF12	.	.	ENSP00000354681	.	8/30	.	.	.	.	.	.	.	.	.	8/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,stop_gained,p.Lys260Ter,ENST00000361715,;OPA1,stop_gained,p.Lys259Ter,ENST00000361828,;OPA1,stop_gained,p.Lys241Ter,ENST00000392438,;OPA1,stop_gained,p.Lys159Ter,ENST00000434811,;OPA1,stop_gained,p.Lys296Ter,ENST00000361510,;OPA1,stop_gained,p.Lys242Ter,ENST00000361150,;OPA1,stop_gained,p.Lys278Ter,ENST00000361908,;OPA1,non_coding_transcript_exon_variant,,ENST00000497189,;OPA1,non_coding_transcript_exon_variant,,ENST00000495476,;OPA1,upstream_gene_variant,,ENST00000475899,;	1066	215	317	SUCCESS
UBXN7	26043	.	GRCh37	3	196096315	196096315	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	18	48	0	ENST00000296328.4:c.683T>C	p.Val228Ala	p.V228A	ENST00000296328	NM_015562.1	228	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS43191.1	683	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGAAACATAG	NONE	.	.	hmmpanther:PTHR23322:SF6,hmmpanther:PTHR23322,Pfam_domain:PF13899,Gene3D:3.40.30.10,SMART_domains:SM00594,PIRSF_domain:PIRSF037991,Superfamily_domains:SSF52833	.	.	ENSP00000296328	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000296328	Transcript	.	.	ENSG00000163960	29119	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	UBXN7_HUMAN	UBXN7	HGNC	F5GYB1_HUMAN,C9JD50_HUMAN,C9JAT7_HUMAN	.	UPI00001C1DEF	SNV	UBXN7,missense_variant,p.Val80Ala,ENST00000535858,;UBXN7,missense_variant,p.Val66Ala,ENST00000428095,;UBXN7,missense_variant,p.Val228Ala,ENST00000296328,;UBXN7,3_prime_UTR_variant,,ENST00000429160,;	758	48	85	SUCCESS
FBXO45	200933	.	GRCh37	3	196296086	196296086	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	54	0	ENST00000311630.6:c.231G>C	p.Glu77Asp	p.E77D	ENST00000311630	NM_001105573.1	77	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS46985.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAGGTGTG	NONE	.	.	PROSITE_profiles:PS50181,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF7,Gene3D:1.20.1280.50,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383	.	.	ENSP00000310332	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000311630	Transcript	.	.	ENSG00000174013	29148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.65)	.	FBSP1_HUMAN	FBXO45	HGNC	C9JLC0_HUMAN	.	UPI00001602EC	SNV	FBXO45,missense_variant,p.Glu77Asp,ENST00000311630,;FBXO45,intron_variant,,ENST00000440469,;WDR53,upstream_gene_variant,,ENST00000429115,;WDR53,upstream_gene_variant,,ENST00000456677,;WDR53,upstream_gene_variant,,ENST00000433160,;WDR53,upstream_gene_variant,,ENST00000332629,;WDR53,upstream_gene_variant,,ENST00000425888,;	528	54	78	SUCCESS
IQCG	84223	.	GRCh37	3	197640825	197640825	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	33	107	0	ENST00000265239.6:c.815A>T	p.Asn272Ile	p.N272I	ENST00000265239	NM_032263.3	272	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS3331.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTATTGGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14871,hmmpanther:PTHR14871:SF1	.	.	ENSP00000265239	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000265239	Transcript	.	.	ENSG00000114473	25251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.04)	.	IQCG_HUMAN	IQCG	HGNC	C9JUC1_HUMAN,C9J6M9_HUMAN	.	UPI0000037D68	SNV	IQCG,missense_variant,p.Asn272Ile,ENST00000455191,;IQCG,missense_variant,p.Asn272Ile,ENST00000265239,;IQCG,missense_variant,p.Asn272Ile,ENST00000453254,;IQCG,non_coding_transcript_exon_variant,,ENST00000473225,;IQCG,upstream_gene_variant,,ENST00000485787,;IQCG,upstream_gene_variant,,ENST00000469822,;IQCG,non_coding_transcript_exon_variant,,ENST00000490748,;IQCG,upstream_gene_variant,,ENST00000478903,;	1240	107	121	SUCCESS
ZNF619	285267	.	GRCh37	3	40529425	40529425	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	80	0	ENST00000314686.5:c.1376A>T	p.Gln459Leu	p.Q459L	ENST00000314686		459	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46802.1	1544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCAGAAGT	NONE	.	.	SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF138,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000411132	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000447116	Transcript	.	.	ENSG00000177873	26910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	tolerated(0.22)	.	.	ZNF619	HGNC	E9PCD9_HUMAN,E5RJF3_HUMAN,B7Z9B3_HUMAN	.	UPI000192B90D	SNV	ZNF619,missense_variant,p.Gln466Leu,ENST00000522736,;ZNF619,missense_variant,p.Gln475Leu,ENST00000432264,;ZNF619,missense_variant,p.Gln475Leu,ENST00000429348,;ZNF619,missense_variant,p.Gln459Leu,ENST00000314686,;ZNF619,missense_variant,p.Gln515Leu,ENST00000447116,;ZNF619,missense_variant,p.Gln515Leu,ENST00000521353,;ZNF619,missense_variant,p.Gln431Leu,ENST00000456778,;ZNF619,non_coding_transcript_exon_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;	1851	80	100	SUCCESS
KLHL40	131377	.	GRCh37	3	42730507	42730507	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	30	102	0	ENST00000287777.4:c.1568T>A	p.Leu523Gln	p.L523Q	ENST00000287777	NM_152393.3	523	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS2703.1	1568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCTGACCA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000287777	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000287777	Transcript	.	.	ENSG00000157119	30372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	KLH40_HUMAN	KLHL40	HGNC	.	.	UPI000000D866	SNV	KLHL40,missense_variant,p.Leu523Gln,ENST00000287777,;HHATL,downstream_gene_variant,,ENST00000310417,;HHATL,downstream_gene_variant,,ENST00000441594,;HHATL,downstream_gene_variant,,ENST00000426666,;CCDC13,downstream_gene_variant,,ENST00000479631,;HHATL,downstream_gene_variant,,ENST00000466007,;HHATL,downstream_gene_variant,,ENST00000480939,;HHATL,downstream_gene_variant,,ENST00000490003,;	1668	103	112	SUCCESS
ITPR1	3708	.	GRCh37	3	4726008	4726008	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	16	61	0	ENST00000354582.6:c.3542A>T	p.Tyr1181Phe	p.Y1181F	ENST00000354582		1181	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS54551.1	3497	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTACAACT	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000306253	.	28/61	.	.	.	.	.	.	.	.	.	28/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.462)	.	tolerated(0.58)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Tyr1166Phe,ENST00000443694,;ITPR1,missense_variant,p.Tyr1181Phe,ENST00000354582,;ITPR1,missense_variant,p.Tyr1172Phe,ENST00000423119,;ITPR1,missense_variant,p.Tyr1157Phe,ENST00000456211,;ITPR1,missense_variant,p.Tyr1172Phe,ENST00000357086,;ITPR1,missense_variant,p.Tyr1166Phe,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	3847	61	108	SUCCESS
QRICH1	54870	.	GRCh37	3	49069670	49069670	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	60	0	ENST00000357496.2:c.2084C>G	p.Pro695Arg	p.P695R	ENST00000357496	NM_017730.2	695	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS2787.1	2084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGGATTT	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25,Pfam_domain:PF12012	.	.	ENSP00000378830	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000395443	Transcript	.	.	ENSG00000198218	24713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.08)	.	QRIC1_HUMAN	QRICH1	HGNC	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN	.	UPI0000209C85	SNV	QRICH1,missense_variant,p.Pro695Arg,ENST00000424300,;QRICH1,missense_variant,p.Pro695Arg,ENST00000357496,;QRICH1,missense_variant,p.Pro695Arg,ENST00000395443,;IMPDH2,upstream_gene_variant,,ENST00000326739,;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;RP13-131K19.6,downstream_gene_variant,,ENST00000607245,;QRICH1,non_coding_transcript_exon_variant,,ENST00000477021,;QRICH1,downstream_gene_variant,,ENST00000479449,;QRICH1,non_coding_transcript_exon_variant,,ENST00000489642,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498392,;QRICH1,downstream_gene_variant,,ENST00000498440,;QRICH1,downstream_gene_variant,,ENST00000469910,;IMPDH2,upstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000462980,;	2557	61	71	SUCCESS
NEK4	6787	.	GRCh37	3	52794925	52794925	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	56	0	ENST00000233027.5:c.849T>C	p.Asn283=	p.N283=	ENST00000233027	NM_001193533.1	283	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS2863.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCATTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF240,Superfamily_domains:SSF56112	.	.	ENSP00000233027	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000233027	Transcript	.	.	ENSG00000114904	11399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK4_HUMAN	NEK4	HGNC	.	.	UPI000013C96A	SNV	NEK4,synonymous_variant,p.%3D,ENST00000233027,;NEK4,synonymous_variant,p.%3D,ENST00000461689,;NEK4,synonymous_variant,p.%3D,ENST00000383721,;NEK4,synonymous_variant,p.%3D,ENST00000535191,;	1052	56	69	SUCCESS
FAM86DP	692099	.	GRCh37	3	75484146	75484146	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	11	0	ENST00000459803.1:n.54A>T		p.*18*	ENST00000459803				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTCCGCT	NONE	.	353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000608169	Transcript	.	.	ENSG00000272690	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-803B1.8	Clone_based_vega_gene	.	.	.	SNV	RP11-803B1.8,upstream_gene_variant,,ENST00000608169,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000489609,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000459803,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000478666,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000497543,;FAM86DP,upstream_gene_variant,,ENST00000484945,;FAM86DP,upstream_gene_variant,,ENST00000491583,;FAM86DP,intron_variant,,ENST00000477247,;	.	11	17	SUCCESS
BRPF1	7862	.	GRCh37	3	9784748	9784748	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	48	127	0	ENST00000457855.1:c.2104A>T	p.Ser702Cys	p.S702C	ENST00000457855		702	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS33692.1	2122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCAGCAAC	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503	.	.	ENSP00000373340	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.252)	.	deleterious(0.01)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Ser702Cys,ENST00000433861,;BRPF1,missense_variant,p.Ser702Cys,ENST00000457855,;BRPF1,missense_variant,p.Ser708Cys,ENST00000383829,;BRPF1,missense_variant,p.Ser702Cys,ENST00000302054,;BRPF1,missense_variant,p.Ser702Cys,ENST00000424362,;BRPF1,upstream_gene_variant,,ENST00000469066,;BRPF1,upstream_gene_variant,,ENST00000497565,;	2526	127	161	SUCCESS
EGF	1950	.	GRCh37	4	110882063	110882063	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	108	0	ENST00000265171.5:c.1107T>A	p.Leu369=	p.L369=	ENST00000265171	NM_001963.4	369	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3689.1	1107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTGGGTG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,SMART_domains:SM00181,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR10529,PROSITE_profiles:PS50026	.	.	ENSP00000265171	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,synonymous_variant,p.%3D,ENST00000503392,;EGF,synonymous_variant,p.%3D,ENST00000265171,;EGF,synonymous_variant,p.%3D,ENST00000509793,;EGF,non_coding_transcript_exon_variant,,ENST00000504633,;	1552	108	103	SUCCESS
MYOZ2	51778	.	GRCh37	4	120072181	120072181	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	89	0	ENST00000307128.5:c.231T>A	p.Ser77=	p.S77=	ENST00000307128	NM_016599.4	77	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3711.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCTAGAGC	NONE	.	.	hmmpanther:PTHR15941,hmmpanther:PTHR15941:SF9,Pfam_domain:PF05556	.	.	ENSP00000306997	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000307128	Transcript	1	.	ENSG00000172399	1330	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOZ2_HUMAN	MYOZ2	HGNC	.	.	UPI000004665D	SNV	MYOZ2,synonymous_variant,p.%3D,ENST00000307128,;	444	89	72	SUCCESS
BBS7	55212	.	GRCh37	4	122789150	122789150	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	73	0	ENST00000264499.4:c.88A>T	p.Arg30Ter	p.R30*	ENST00000264499	NM_176824.2	30	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS3724.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGTGTC	NONE	.	.	hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091	.	.	ENSP00000264499	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000264499	Transcript	1	.	ENSG00000138686	18758	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS7_HUMAN	BBS7	HGNC	H0Y973_HUMAN	.	UPI00001684D7	SNV	BBS7,stop_gained,p.Arg30Ter,ENST00000264499,;BBS7,stop_gained,p.Arg30Ter,ENST00000506636,;RP11-63B13.1,upstream_gene_variant,,ENST00000567769,;BBS7,non_coding_transcript_exon_variant,,ENST00000502444,;	272	73	82	SUCCESS
PCDH18	54510	.	GRCh37	4	138442493	138442493	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766934255	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	96	0	ENST00000344876.4:c.3098A>T	p.Asn1033Ile	p.N1033I	ENST00000344876	NM_019035.3	1033	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS34064.1	3098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGTTGGAC	NONE	.	.	.	.	.	ENSP00000355082	.	4/4	.	.	.	.	.	.	.	.	rs766934255	4/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.04)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Asn244Ile,ENST00000510305,;PCDH18,missense_variant,p.Asn1033Ile,ENST00000344876,;PCDH18,missense_variant,p.Asn812Ile,ENST00000507846,;PCDH18,missense_variant,p.Asn1032Ile,ENST00000412923,;PCDH18,missense_variant,p.Asn213Ile,ENST00000511115,;	3485	96	91	SUCCESS
DCHS2	54798	.	GRCh37	4	155156629	155156629	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	75	0	ENST00000357232.4:c.7810A>T	p.Ser2604Cys	p.S2604C	ENST00000357232	NM_017639.3	2604	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS3785.1	7810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACTGCAGT	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	deleterious(0.04)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Ser2604Cys,ENST00000357232,;	7810	75	59	SUCCESS
TRIML2	205860	.	GRCh37	4	189026498	189026498	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	15	0	ENST00000512729.1:c.-126T>A		p.*42*	ENST00000512729	NM_173553.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3850.1	.	RADIA|MUTECT|MUSE	.	CTGTAACTGAG	NONE	.	.	.	.	.	ENSP00000422581	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000512729	Transcript	.	.	ENSG00000179046	26378	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRIMM_HUMAN	TRIML2	HGNC	.	.	UPI000007300A	SNV	TRIML2,missense_variant,p.Leu9Ile,ENST00000536972,;TRIML2,5_prime_UTR_variant,,ENST00000512729,;TRIML2,upstream_gene_variant,,ENST00000326754,;TRIML2,downstream_gene_variant,,ENST00000394461,;TRIML2,downstream_gene_variant,,ENST00000502707,;TRIML2,non_coding_transcript_exon_variant,,ENST00000511771,;TRIML2,upstream_gene_variant,,ENST00000503475,;TRIML2,upstream_gene_variant,,ENST00000503141,;RP11-713C19.1,upstream_gene_variant,,ENST00000464002,;	250	15	12	SUCCESS
N4BP2	55728	.	GRCh37	4	40122815	40122815	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	219	79	199	1	ENST00000261435.6:c.3084A>T	p.Ile1028=	p.I1028=	ENST00000261435	NM_018177.4	1028	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3457.1	3084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATAGAAAA	NONE	.	.	hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	.	.	ENSP00000261435	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,synonymous_variant,p.%3D,ENST00000513269,;N4BP2,synonymous_variant,p.%3D,ENST00000261435,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	3500	200	299	SUCCESS
ATP10D	57205	.	GRCh37	4	47548881	47548881	+	splice_donor_variant	Splice_Site	SNP	T	T	C	rs1408353811	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	72	0	ENST00000273859.3:c.1635+2T>C		p.X545_splice	ENST00000273859	NM_020453.3	545		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3476.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTAAGTA	NONE	.	.	.	.	.	ENSP00000273859	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	HIGH	10/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,splice_donor_variant,,ENST00000273859,;ATP10D,missense_variant,p.Val531Ala,ENST00000504445,;ATP10D,splice_donor_variant,,ENST00000503288,;	.	72	83	SUCCESS
UGT2B17	7367	.	GRCh37	4	69434019	69434019	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	98	189	0	ENST00000317746.2:c.184A>T	p.Ile62Phe	p.I62F	ENST00000317746	NM_001077.3	62	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS3523.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATAGAAG	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178	.	.	ENSP00000320401	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000317746	Transcript	1	.	ENSG00000197888	12547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.2)	.	UDB17_HUMAN	UGT2B17	HGNC	.	.	UPI0000137A9C	SNV	UGT2B17,missense_variant,p.Ile62Phe,ENST00000317746,;	227	189	207	SUCCESS
MMRN1	22915	.	GRCh37	4	90857648	90857648	+	synonymous_variant	Silent	SNP	A	A	T	rs777452617	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	94	0	ENST00000264790.2:c.2817A>T	p.Ser939=	p.S939=	ENST00000264790	NM_007351.2	939	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3635.1	2817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCAGAACT	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	rs777452617	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,synonymous_variant,p.%3D,ENST00000394980,;MMRN1,synonymous_variant,p.%3D,ENST00000508372,;MMRN1,synonymous_variant,p.%3D,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	3136	94	79	SUCCESS
CTNND2	1501	.	GRCh37	5	11385034	11385034	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	20	0	ENST00000304623.8:c.920T>A	p.Leu307Gln	p.L307Q	ENST00000304623	NM_001332.2	307	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS3881.1	920	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCAGGCGG	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.682)	.	tolerated(0.05)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Leu216Gln,ENST00000511377,;CTNND2,missense_variant,p.Leu307Gln,ENST00000304623,;CTNND2,missense_variant,p.Leu307Gln,ENST00000359640,;CTNND2,intron_variant,,ENST00000502551,;CTNND2,intron_variant,,ENST00000503622,;CTNND2,intron_variant,,ENST00000458100,;CTNND2,downstream_gene_variant,,ENST00000513598,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,upstream_gene_variant,,ENST00000506735,;CTNND2,downstream_gene_variant,,ENST00000514132,;CTNND2,upstream_gene_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;CTNND2,intron_variant,,ENST00000513588,;CTNND2,intron_variant,,ENST00000504499,;	1110	20	36	SUCCESS
PPP2CA	5515	.	GRCh37	5	133534792	133534792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	62	0	ENST00000481195.1:c.842C>A	p.Thr281Asn	p.T281N	ENST00000481195	NM_002715.2	281	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS4173.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAGTATCG	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF216,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300	.	.	ENSP00000418447	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000481195	Transcript	.	.	ENSG00000113575	9299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PP2AA_HUMAN	PPP2CA	HGNC	E5RHP4_HUMAN,B3KUN1_HUMAN,B3KQ51_HUMAN	.	UPI0000000C15	SNV	PPP2CA,missense_variant,p.Thr281Asn,ENST00000481195,;CTD-2410N18.5,intron_variant,,ENST00000519718,;PPP2CA,downstream_gene_variant,,ENST00000522385,;PPP2CA,downstream_gene_variant,,ENST00000523082,;PPP2CA,downstream_gene_variant,,ENST00000231504,;PPP2CA,non_coding_transcript_exon_variant,,ENST00000472253,;PPP2CA,downstream_gene_variant,,ENST00000495833,;	1123	62	81	SUCCESS
SAR1B	51128	.	GRCh37	5	133945262	133945262	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	62	0	ENST00000402673.2:c.347A>C	p.Asp116Ala	p.D116A	ENST00000402673	NM_016103.3	116	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS4177.1	347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACATCAAGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Gene3D:3.40.50.300,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711:SF107,hmmpanther:PTHR11711,PROSITE_profiles:PS51422	.	.	ENSP00000385432	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000402673	Transcript	1	.	ENSG00000152700	10535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.03)	.	SAR1B_HUMAN	SAR1B	HGNC	Q9H029_HUMAN,D6RD69_HUMAN,D6RAA2_HUMAN,D6R9R5_HUMAN	.	UPI0000135569	SNV	SAR1B,missense_variant,p.Asp48Ala,ENST00000509730,;SAR1B,missense_variant,p.Asp48Ala,ENST00000507419,;SAR1B,missense_variant,p.Asp48Ala,ENST00000502539,;SAR1B,missense_variant,p.Asp116Ala,ENST00000402673,;SAR1B,missense_variant,p.Asp116Ala,ENST00000439578,;SAR1B,missense_variant,p.Asp48Ala,ENST00000509937,;SAR1B,missense_variant,p.Asp116Ala,ENST00000505758,;SAR1B,downstream_gene_variant,,ENST00000502286,;SAR1B,missense_variant,p.Asp116Ala,ENST00000503318,;SAR1B,splice_region_variant,,ENST00000508363,;	626	62	99	SUCCESS
TRPC7	57113	.	GRCh37	5	135651458	135651458	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs759103610	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	94	0	ENST00000513104.1:c.790A>T	p.Arg264Trp	p.R264W	ENST00000513104	NM_020389.2	264	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47267.2	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGTAAT	NONE	byFrequency	.	TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	3/12	.	.	.	.	.	.	.	.	rs759103610	3/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	tolerated(0.17)	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Arg264Trp,ENST00000502753,;TRPC7,missense_variant,p.Arg264Trp,ENST00000513104,;TRPC7,intron_variant,,ENST00000355180,;TRPC7,intron_variant,,ENST00000352189,;TRPC7,intron_variant,,ENST00000378459,;TRPC7,intron_variant,,ENST00000426057,;TRPC7-AS2,non_coding_transcript_exon_variant,,ENST00000513958,;TRPC7,missense_variant,p.Arg264Trp,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	1073	94	85	SUCCESS
DNAH5	1767	.	GRCh37	5	13716756	13716756	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1285937528	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	62	0	ENST00000265104.4:c.12749A>T	p.Gln4250Leu	p.Q4250L	ENST00000265104	NM_001369.2	4250	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3882.1	12749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATTGAATC	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	74/79	.	.	.	.	.	.	.	.	.	74/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Gln4250Leu,ENST00000265104,;	12854	62	80	SUCCESS
KDM3B	51780	.	GRCh37	5	137754822	137754822	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	68	245	1	ENST00000314358.5:c.3616A>T	p.Lys1206Ter	p.K1206*	ENST00000314358	NM_016604.3	1206	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS34242.1	3616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGAAAGCC	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,stop_gained,p.Lys238Ter,ENST00000542866,;KDM3B,stop_gained,p.Lys862Ter,ENST00000394866,;KDM3B,stop_gained,p.Lys1206Ter,ENST00000314358,;KDM3B,non_coding_transcript_exon_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;	3816	246	308	SUCCESS
HSPA9	3313	.	GRCh37	5	137895716	137895716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	122	1	ENST00000297185.3:c.1247C>T	p.Ala416Val	p.A416V	ENST00000297185	NM_004134.6	416	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4208.1	1247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGCCTCA	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_00332,hmmpanther:PTHR19375:SF173,hmmpanther:PTHR19375,TIGRFAM_domain:TIGR02350,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301	.	.	ENSP00000297185	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000297185	Transcript	.	.	ENSG00000113013	5244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated_low_confidence(0.55)	.	GRP75_HUMAN	HSPA9	HGNC	D6RJI2_HUMAN,D6RA73_HUMAN	.	UPI000012BA4E	SNV	HSPA9,missense_variant,p.Ala416Val,ENST00000297185,;SNORD63,upstream_gene_variant,,ENST00000411005,;SNORD63,downstream_gene_variant,,ENST00000384262,;HSPA9,intron_variant,,ENST00000501917,;HSPA9,3_prime_UTR_variant,,ENST00000523929,;HSPA9,non_coding_transcript_exon_variant,,ENST00000508003,;HSPA9,non_coding_transcript_exon_variant,,ENST00000507097,;HSPA9,upstream_gene_variant,,ENST00000524109,;HSPA9,upstream_gene_variant,,ENST00000512328,;	1373	123	117	SUCCESS
PCDHA1	56147	.	GRCh37	5	140165998	140165998	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782509590	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	19	87	0	ENST00000504120.2:c.123C>A	p.His41Gln	p.H41Q	ENST00000504120	NM_018900.2	41	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS54913.1	123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACGGCAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,Superfamily_domains:SSF49313	.	.	ENSP00000420840	.	1/4	.	.	.	.	.	.	.	.	rs782509590	1/4	PASS	ENST00000504120	Transcript	.	.	ENSG00000204970	8663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious_low_confidence(0.02)	.	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	SNV	PCDHA1,missense_variant,p.His41Gln,ENST00000504120,;PCDHA1,missense_variant,p.His41Gln,ENST00000394633,;PCDHA1,missense_variant,p.His41Gln,ENST00000378133,;	123	87	112	SUCCESS
PCDHA2	56146	.	GRCh37	5	140175983	140175983	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	34	157	0	ENST00000526136.1:c.1434A>T	p.Ser478=	p.S478=	ENST00000526136	NM_018905.2	478	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54914.1	1434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCAGCGTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,synonymous_variant,p.%3D,ENST00000378132,;PCDHA2,synonymous_variant,p.%3D,ENST00000526136,;PCDHA2,synonymous_variant,p.%3D,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,upstream_gene_variant,,ENST00000532566,;PCDHA3,upstream_gene_variant,,ENST00000522353,;	1434	157	170	SUCCESS
PCDHA6	56142	.	GRCh37	5	140208516	140208516	+	synonymous_variant	Silent	SNP	T	T	A	rs782139550	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	344	104	335	0	ENST00000529310.1:c.840T>A	p.Ser280=	p.S280=	ENST00000529310	NM_018909.2	280	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47281.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTTTTAA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	rs782139550	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,synonymous_variant,p.%3D,ENST00000527624,;PCDHA6,synonymous_variant,p.%3D,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA5,downstream_gene_variant,,ENST00000378126,;	954	335	449	SUCCESS
PCDHB5	26167	.	GRCh37	5	140515388	140515388	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	36	121	0	ENST00000231134.5:c.372A>T	p.Thr124=	p.T124=	ENST00000231134	NM_015669.2	124	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4247.1	372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGATAT	NONE	.	.	Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,synonymous_variant,p.%3D,ENST00000231134,;	589	121	142	SUCCESS
PCDHB6	56130	.	GRCh37	5	140530514	140530514	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	28	111	0	ENST00000231136.1:c.676G>A	p.Glu226Lys	p.E226K	ENST00000231136	NM_018939.2	226	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4248.1	676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGAGATT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,PROSITE_profiles:PS50268	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.72)	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,missense_variant,p.Glu90Lys,ENST00000543635,;PCDHB6,missense_variant,p.Glu226Lys,ENST00000231136,;	676	111	135	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140773294	140773294	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	51	184	0	ENST00000398604.2:c.914A>T	p.Lys305Ile	p.K305I	ENST00000398604	NM_032088.1	305	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS47291.1	914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAAAAGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious_low_confidence(0.04)	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Lys305Ile,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	914	184	248	SUCCESS
SLU7	10569	.	GRCh37	5	159831536	159831536	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	18	0	ENST00000297151.4:c.1492A>T	p.Lys498Ter	p.K498*	ENST00000297151	NM_006425.4	498	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4352.1	1492	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTTTCCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2	.	.	ENSP00000297151	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000297151	Transcript	.	.	ENSG00000164609	16939	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SLU7_HUMAN	SLU7	HGNC	E5RK41_HUMAN,E5RGM7_HUMAN	.	UPI000013E3CE	SNV	SLU7,stop_gained,p.Lys498Ter,ENST00000297151,;C5orf54,upstream_gene_variant,,ENST00000408953,;C5orf54,upstream_gene_variant,,ENST00000523213,;SLU7,non_coding_transcript_exon_variant,,ENST00000521320,;SLU7,downstream_gene_variant,,ENST00000520841,;SLU7,downstream_gene_variant,,ENST00000523219,;	1880	18	26	SUCCESS
DOCK2	1794	.	GRCh37	5	169482326	169482326	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	71	0	ENST00000256935.8:c.4231G>A	p.Val1411Ile	p.V1411I	ENST00000256935	NM_004946.2	1411	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS4371.1	4231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGTCCAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	42/52	.	.	.	.	.	.	.	.	.	42/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Val472Ile,ENST00000540750,;DOCK2,missense_variant,p.Val1411Ile,ENST00000256935,;DOCK2,missense_variant,p.Val903Ile,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,upstream_gene_variant,,ENST00000520450,;	4311	71	87	SUCCESS
CDH18	1016	.	GRCh37	5	19483513	19483513	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	40	126	0	ENST00000274170.4:c.1779A>C	p.Arg593Ser	p.R593S	ENST00000274170		593	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS3889.1	1779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCTCTCTC	NONE	.	.	SMART_domains:SM00112,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	.	.	ENSP00000425093	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Glu424Ala,ENST00000515257,;CDH18,missense_variant,p.Arg593Ser,ENST00000382275,;CDH18,missense_variant,p.Arg593Ser,ENST00000274170,;CDH18,missense_variant,p.Glu558Ala,ENST00000506372,;CDH18,missense_variant,p.Arg593Ser,ENST00000507958,;CDH18,missense_variant,p.Glu557Ala,ENST00000502796,;CDH18,upstream_gene_variant,,ENST00000510297,;	2770	126	162	SUCCESS
CDH6	1004	.	GRCh37	5	31322954	31322954	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	24	68	0	ENST00000265071.2:c.1912C>T	p.Arg638Trp	p.R638W	ENST00000265071	NM_004932.3	638	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS3894.1	1912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCGGCAG	BUFFER|p.R640Q|c.1919G>A|4	.	.	Pfam_domain:PF01049,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027	.	.	ENSP00000265071	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,missense_variant,p.Arg638Trp,ENST00000265071,;CDH6,downstream_gene_variant,,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000504835,;	2177	68	107	SUCCESS
DROSHA	29102	.	GRCh37	5	31472271	31472271	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	40	127	0	ENST00000344624.3:c.2140G>C	p.Val714Leu	p.V714L	ENST00000344624		714	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS47195.1	2140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCACCAGGG	NONE	.	.	hmmpanther:PTHR11207	.	.	ENSP00000425979	.	16/35	.	.	.	.	.	.	.	.	.	16/35	PASS	ENST00000511367	Transcript	.	.	ENSG00000113360	17904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.05)	.	RNC_HUMAN	DROSHA	HGNC	E5RHD1_HUMAN	.	UPI0000134351	SNV	DROSHA,missense_variant,p.Val677Leu,ENST00000442743,;DROSHA,missense_variant,p.Val714Leu,ENST00000511367,;DROSHA,missense_variant,p.Val677Leu,ENST00000513349,;DROSHA,missense_variant,p.Val714Leu,ENST00000344624,;DROSHA,non_coding_transcript_exon_variant,,ENST00000512885,;DROSHA,non_coding_transcript_exon_variant,,ENST00000510375,;DROSHA,non_coding_transcript_exon_variant,,ENST00000512124,;DROSHA,upstream_gene_variant,,ENST00000505601,;DROSHA,non_coding_transcript_exon_variant,,ENST00000511803,;DROSHA,upstream_gene_variant,,ENST00000509608,;	2385	127	177	SUCCESS
NIPBL	25836	.	GRCh37	5	37049313	37049313	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	28	87	0	ENST00000282516.8:c.6864G>A	p.Glu2288=	p.E2288=	ENST00000282516	NM_133433.3	2288	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS3920.1	6864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAGGCATT	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Pfam_domain:PF12830,Gene3D:1.25.10.10	.	.	ENSP00000282516	.	40/47	.	.	.	.	.	.	.	.	.	40/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;NIPBL,upstream_gene_variant,,ENST00000514335,;	7363	87	130	SUCCESS
MOCS2	4338	.	GRCh37	5	52404403	52404403	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	49	0	ENST00000396954.3:c.-99A>T		p.*33*	ENST00000396954	NM_004531.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3958.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTTGAGGC	NONE	.	.	.	.	.	ENSP00000380157	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000396954	Transcript	1	.	ENSG00000164172	7193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOC2B_HUMAN	MOCS2	HGNC	.	.	UPI000000DB29	SNV	MOCS2,missense_variant,p.Gln30Leu,ENST00000450852,;MOCS2,missense_variant,p.Gln30Leu,ENST00000510818,;MOCS2,missense_variant,p.Gln30Leu,ENST00000361377,;MOCS2,missense_variant,p.Gln30Leu,ENST00000584946,;MOCS2,missense_variant,p.Gln30Leu,ENST00000508922,;MOCS2,missense_variant,p.Gln25Leu,ENST00000527216,;MOCS2,missense_variant,p.Gln30Leu,ENST00000582677,;MOCS2,5_prime_UTR_variant,,ENST00000396954,;CTD-2366F13.1,upstream_gene_variant,,ENST00000499459,;CTD-2366F13.1,upstream_gene_variant,,ENST00000512301,;CTD-2366F13.1,upstream_gene_variant,,ENST00000502171,;MOCS2,non_coding_transcript_exon_variant,,ENST00000514553,;MOCS2,upstream_gene_variant,,ENST00000502402,;	580	49	80	SUCCESS
IPO11	51194	.	GRCh37	5	61833050	61833050	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	37	156	0	ENST00000325324.6:c.2184T>G	p.Gly728=	p.G728=	ENST00000325324	NM_016338.4	728	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS47217.1	2304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGTCTATG	NONE	.	.	hmmpanther:PTHR10997:SF7,hmmpanther:PTHR10997,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000386992	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000409296	Transcript	.	.	ENSG00000086200	20628	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO11_HUMAN	IPO11	HGNC	E7EMB7_HUMAN,D6RJB1_HUMAN,D6RCQ2_HUMAN,D6RCN7_HUMAN	.	UPI00017EE9F4	SNV	IPO11,synonymous_variant,p.%3D,ENST00000409296,;IPO11,synonymous_variant,p.%3D,ENST00000325324,;IPO11,intron_variant,,ENST00000511713,;KIF2A,non_coding_transcript_exon_variant,,ENST00000509663,;IPO11,synonymous_variant,p.%3D,ENST00000424533,;	2434	156	183	SUCCESS
ADCY2	108	.	GRCh37	5	7707845	7707845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	22	91	0	ENST00000338316.4:c.1295T>A	p.Leu432Gln	p.L432Q	ENST00000338316	NM_020546.2	432	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3872.2	1295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCTGGAGC	NONE	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Leu432Gln,ENST00000338316,;ADCY2,missense_variant,p.Leu252Gln,ENST00000537121,;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	1384	91	108	SUCCESS
ELL2	22936	.	GRCh37	5	95249476	95249476	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	rs762366919	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	71	0	ENST00000237853.4:c.480A>T		p.X160_splice	ENST00000237853	NM_012081.5	160	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4080.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTACATA	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288,Pfam_domain:PF10390	.	.	ENSP00000237853	.	4/12	.	.	.	.	.	.	.	.	rs762366919	4/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,synonymous_variant,p.%3D,ENST00000237853,;ELL2,intron_variant,,ENST00000513343,;ELL2,intron_variant,,ENST00000431061,;ELL2,intron_variant,,ENST00000506628,;ELL2,non_coding_transcript_exon_variant,,ENST00000508694,;	830	71	68	SUCCESS
NR2E1	7101	.	GRCh37	6	108492806	108492806	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	50	1	ENST00000368986.4:c.170A>T	p.Gln57Leu	p.Q57L	ENST00000368986	NM_003269.3	57	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5063.1	170	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAACCAGGTAC	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF79,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716	.	.	ENSP00000357982	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000368986	Transcript	.	.	ENSG00000112333	7973	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	deleterious(0.01)	.	NR2E1_HUMAN	NR2E1	HGNC	B6ZGT9_HUMAN,A6PVF6_HUMAN	.	UPI0000130478	SNV	NR2E1,missense_variant,p.Gln57Leu,ENST00000368986,;NR2E1,missense_variant,p.Gln94Leu,ENST00000368983,;NR2E1,splice_region_variant,,ENST00000426403,;NR2E1,upstream_gene_variant,,ENST00000484978,;	878	51	44	SUCCESS
DSE	29940	.	GRCh37	6	116757981	116757981	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	30	120	0	ENST00000331677.3:c.2350A>T	p.Arg784Ter	p.R784*	ENST00000331677		784	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS5107.1	2350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGAGACAG	NONE	.	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532	.	.	ENSP00000332151	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,stop_gained,p.Arg784Ter,ENST00000452085,;DSE,stop_gained,p.Arg784Ter,ENST00000331677,;DSE,stop_gained,p.Arg803Ter,ENST00000537543,;DSE,stop_gained,p.Arg784Ter,ENST00000359564,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	2794	120	141	SUCCESS
CTGF	0	.	GRCh37	6	132270673	132270673	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs757418221	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	76	0	ENST00000367976.3:c.781A>T	p.Lys261Ter	p.K261*	ENST00000367976	NM_001901.2	261	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5151.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTTGGGAG	NONE	.	.	SMART_domains:SM00041,PIRSF_domain:PIRSF036495,Pfam_domain:PF00007,hmmpanther:PTHR11348:SF7,hmmpanther:PTHR11348,PROSITE_profiles:PS01225	.	.	ENSP00000356954	.	5/5	.	.	.	.	.	.	.	.	rs757418221	5/5	PASS	ENST00000367976	Transcript	.	.	ENSG00000118523	2500	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTGF_HUMAN	CTGF	HGNC	B3KWK5_HUMAN	.	UPI000013CA11	SNV	CTGF,stop_gained,p.Lys261Ter,ENST00000367976,;RP11-69I8.3,upstream_gene_variant,,ENST00000435287,;	982	76	86	SUCCESS
ADGB	79747	.	GRCh37	6	146993419	146993419	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	48	155	0	ENST00000397944.3:c.903A>T	p.Ser301=	p.S301=	ENST00000397944	NM_024694.3	301	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	.	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCAGATGA	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,Pfam_domain:PF00648,SMART_domains:SM00230	.	.	ENSP00000381036	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,synonymous_variant,p.%3D,ENST00000397944,;ADGB,5_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;	979	156	201	SUCCESS
TAGAP	117289	.	GRCh37	6	159459160	159459160	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	82	0	ENST00000367066.3:c.884A>T	p.His295Leu	p.H295L	ENST00000367066	NM_054114.4	295	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5261.1	884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGTGCTCC	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF26	.	.	ENSP00000356033	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000367066	Transcript	.	.	ENSG00000164691	15669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious(0.02)	.	TAGAP_HUMAN	TAGAP	HGNC	.	.	UPI0000071CD5	SNV	TAGAP,missense_variant,p.His117Leu,ENST00000326965,;TAGAP,missense_variant,p.His295Leu,ENST00000367066,;TAGAP,downstream_gene_variant,,ENST00000338313,;RP1-111C20.4,intron_variant,,ENST00000606470,;RP1-111C20.4,intron_variant,,ENST00000606466,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000607391,;	1216	82	101	SUCCESS
C6orf118	168090	.	GRCh37	6	165715248	165715248	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	84	0	ENST00000230301.8:c.563A>T	p.Gln188Leu	p.Q188L	ENST00000230301	NM_144980.3	188	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5288.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGGTAG	NONE	.	.	.	.	.	ENSP00000230301	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	deleterious(0.04)	.	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,missense_variant,p.Gln84Leu,ENST00000543069,;C6orf118,missense_variant,p.Gln188Leu,ENST00000230301,;	584	84	66	SUCCESS
HIST1H4C	0	.	GRCh37	6	26104224	26104224	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	84	0	ENST00000377803.2:c.49A>T	p.Lys17Ter	p.K17*	ENST00000377803	NM_003542.3	17	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4583.1	49	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTAAGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10484,PROSITE_patterns:PS00047,Gene3D:1.10.20.10,SMART_domains:SM00417,Superfamily_domains:SSF47113	.	.	ENSP00000367034	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377803	Transcript	.	.	ENSG00000197061	4787	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H4_HUMAN	HIST1H4C	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4C,stop_gained,p.Lys17Ter,ENST00000377803,;HIST1H1T,downstream_gene_variant,,ENST00000338379,;	121	84	67	SUCCESS
HIST1H2BL	0	.	GRCh37	6	27775503	27775503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	25	109	0	ENST00000377401.2:c.182G>T	p.Gly61Val	p.G61V	ENST00000377401	NM_003519.3	61	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4625.1	182	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCCCATG	NONE	.	.	hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621	.	.	ENSP00000366618	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377401	Transcript	.	.	ENSG00000185130	4748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.776)	.	deleterious_low_confidence(0.01)	.	H2B1L_HUMAN	HIST1H2BL	HGNC	.	.	UPI0000001BD6	SNV	HIST1H2BL,missense_variant,p.Gly61Val,ENST00000377401,;HIST1H2AI,upstream_gene_variant,,ENST00000358739,;HIST1H3H,upstream_gene_variant,,ENST00000369163,;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	207	109	134	SUCCESS
OR2H1	26716	.	GRCh37	6	29429803	29429803	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	76	0	ENST00000377132.1:c.257C>A	p.Pro86Gln	p.P86Q	ENST00000377132		86	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS4660.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCAAAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF190,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366340	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377136	Transcript	.	.	ENSG00000204688	8252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0.02)	.	OR2H1_HUMAN	OR2H1	HGNC	Q8IU63_HUMAN	.	UPI000000DCA7	SNV	OR2H1,missense_variant,p.Pro86Gln,ENST00000442615,;OR2H1,missense_variant,p.Pro86Gln,ENST00000377136,;OR2H1,missense_variant,p.Pro86Gln,ENST00000396792,;OR2H1,missense_variant,p.Pro86Gln,ENST00000377133,;OR2H1,missense_variant,p.Pro86Gln,ENST00000377132,;OR11A1,upstream_gene_variant,,ENST00000377149,;OR2H1,non_coding_transcript_exon_variant,,ENST00000473369,;OR2H1,non_coding_transcript_exon_variant,,ENST00000484554,;OR2H1,downstream_gene_variant,,ENST00000484371,;UBDP1,downstream_gene_variant,,ENST00000457888,;	722	76	70	SUCCESS
GABBR1	2550	.	GRCh37	6	29574219	29574219	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758113726	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	73	0	ENST00000377034.4:c.2260A>T	p.Ile754Phe	p.I754F	ENST00000377034	NM_001470.2	754	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS4663.1	2260	RADIA|MUTECT|MUSE	.	CAGAATAGAGA	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF00003,Prints_domain:PR01176	.	.	ENSP00000366233	.	19/23	.	.	.	.	.	.	.	.	rs758113726	19/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.717)	.	deleterious(0.04)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Ile692Phe,ENST00000377016,;GABBR1,missense_variant,p.Ile637Phe,ENST00000355973,;GABBR1,missense_variant,p.Ile637Phe,ENST00000377012,;GABBR1,missense_variant,p.Ile754Phe,ENST00000377034,;GABBR1,3_prime_UTR_variant,,ENST00000376977,;GABBR1,3_prime_UTR_variant,,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000489839,;GABBR1,upstream_gene_variant,,ENST00000488334,;GABBR1,downstream_gene_variant,,ENST00000473774,;GABBR1,upstream_gene_variant,,ENST00000478931,;	2596	73	84	SUCCESS
GABBR1	2550	.	GRCh37	6	29574242	29574242	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	73	0	ENST00000377034.4:c.2237C>T	p.Pro746Leu	p.P746L	ENST00000377034	NM_001470.2	746	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4663.1	2237	RADIA|MUTECT|MUSE	.	CCTTAGGTTCC	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF00003	.	.	ENSP00000366233	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.281)	.	deleterious(0.01)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Pro684Leu,ENST00000377016,;GABBR1,missense_variant,p.Pro629Leu,ENST00000355973,;GABBR1,missense_variant,p.Pro629Leu,ENST00000377012,;GABBR1,missense_variant,p.Pro746Leu,ENST00000377034,;GABBR1,3_prime_UTR_variant,,ENST00000376977,;GABBR1,3_prime_UTR_variant,,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000489839,;GABBR1,upstream_gene_variant,,ENST00000488334,;GABBR1,downstream_gene_variant,,ENST00000473774,;GABBR1,upstream_gene_variant,,ENST00000478931,;	2573	73	83	SUCCESS
RNF39	80352	.	GRCh37	6	30039168	30039168	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	42	0	ENST00000244360.6:c.983T>A	p.Leu328Gln	p.L328Q	ENST00000244360	NM_025236.3	328	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS4673.1	983	MUTECT|MUSE	.	GGCACAGCCTT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF224,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000244360	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000244360	Transcript	.	.	ENSG00000204618	18064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	RNF39_HUMAN	RNF39	HGNC	Q96QB5_HUMAN	.	UPI000000D735	SNV	RNF39,missense_variant,p.Leu328Gln,ENST00000244360,;RNF39,splice_region_variant,,ENST00000376751,;PPP1R11,downstream_gene_variant,,ENST00000376769,;PPP1R11,downstream_gene_variant,,ENST00000376763,;PPP1R11,downstream_gene_variant,,ENST00000376772,;PPP1R11,downstream_gene_variant,,ENST00000376765,;PPP1R11,downstream_gene_variant,,ENST00000376773,;PPP1R11,downstream_gene_variant,,ENST00000376758,;	1081	42	41	SUCCESS
TNXB	7148	.	GRCh37	6	32013072	32013072	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	141	0	ENST00000451343.1:c.-76A>T		p.*26*	ENST00000451343	NM_032470.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4736.1	.	MUTECT|VARSCANS	.	GGGGCTAACTC	NONE	.	.	.	.	.	ENSP00000407685	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000451343	Transcript	.	.	ENSG00000168477	11976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TENX_HUMAN	TNXB	HGNC	B6RHJ5_HUMAN	.	UPI0000000E8E	SNV	TNXB,missense_variant,p.Leu3544Phe,ENST00000375247,;TNXB,missense_variant,p.Leu3546Phe,ENST00000375244,;TNXB,5_prime_UTR_variant,,ENST00000451343,;CYP21A2,downstream_gene_variant,,ENST00000418967,;CYP21A2,downstream_gene_variant,,ENST00000435122,;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000486063,;TNXB,upstream_gene_variant,,ENST00000498094,;	834	141	104	SUCCESS
GRM4	2914	.	GRCh37	6	34003952	34003952	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	69	0	ENST00000538487.2:c.1935T>A	p.Ala645=	p.A645=	ENST00000538487	NM_000841.2	645	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4787.1	1935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCAGCGAT	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF00003	.	.	ENSP00000440556	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000538487	Transcript	.	.	ENSG00000124493	4596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM4_HUMAN	GRM4	HGNC	A8K0J8_HUMAN,A1L4F9_HUMAN	.	UPI000004A7DE	SNV	GRM4,synonymous_variant,p.%3D,ENST00000544773,;GRM4,synonymous_variant,p.%3D,ENST00000374181,;GRM4,synonymous_variant,p.%3D,ENST00000609222,;GRM4,synonymous_variant,p.%3D,ENST00000455714,;GRM4,synonymous_variant,p.%3D,ENST00000535756,;GRM4,synonymous_variant,p.%3D,ENST00000374177,;GRM4,synonymous_variant,p.%3D,ENST00000538487,;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	2379	69	78	SUCCESS
PNPLA1	285848	.	GRCh37	6	36269635	36269635	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	56	0	ENST00000394571.2:c.776-3T>A		p.X259_splice	ENST00000394571	NM_001145717.1	259		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54997.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTAGATG	NONE	.	.	.	.	.	ENSP00000378072	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394571	Transcript	.	.	ENSG00000180316	21246	.	.	LOW	5/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPL1_HUMAN	PNPLA1	HGNC	B8XXQ3_HUMAN	.	UPI000189560E	SNV	PNPLA1,splice_region_variant,,ENST00000394571,;PNPLA1,splice_region_variant,,ENST00000312917,;PNPLA1,splice_region_variant,,ENST00000457797,;PNPLA1,splice_region_variant,,ENST00000388715,;	.	56	73	SUCCESS
DNAH8	1769	.	GRCh37	6	38749117	38749117	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753499080	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	61	177	0	ENST00000359357.3:c.1576C>T	p.Arg526Cys	p.R526C	ENST00000359357		526	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	1576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATCGCCGG	NONE	byFrequency	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	14/91	.	.	.	.	.	.	.	.	rs753499080	14/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Arg526Cys,ENST00000359357,;DNAH8,missense_variant,p.Arg731Cys,ENST00000327475,;DNAH8,missense_variant,p.Arg526Cys,ENST00000441566,;DNAH8,missense_variant,p.Arg743Cys,ENST00000449981,;	1830	178	224	SUCCESS
TREML2	79865	.	GRCh37	6	41162396	41162396	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	27	118	0	ENST00000483722.1:c.552T>A	p.Pro184=	p.P184=	ENST00000483722	NM_024807.2	184	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4853.2	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCAGGTCT	NONE	.	.	hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF3	.	.	ENSP00000418767	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000483722	Transcript	.	.	ENSG00000112195	21092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRML2_HUMAN	TREML2	HGNC	.	.	UPI0000074452	SNV	TREML2,synonymous_variant,p.%3D,ENST00000483722,;	738	118	130	SUCCESS
NCR2	9436	.	GRCh37	6	41309624	41309624	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	41	0	ENST00000373089.5:c.487A>T	p.Arg163Ter	p.R163*	ENST00000373089	NM_004828.3	163	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS4855.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGACAA	NONE	.	.	hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF2	.	.	ENSP00000362181	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000373089	Transcript	.	.	ENSG00000096264	6732	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCTR2_HUMAN	NCR2	HGNC	.	.	UPI000006DFB0	SNV	NCR2,stop_gained,p.Arg163Ter,ENST00000373089,;NCR2,stop_gained,p.Arg163Ter,ENST00000373083,;NCR2,stop_gained,p.Arg163Ter,ENST00000373086,;	575	41	71	SUCCESS
KLC4	89953	.	GRCh37	6	43038459	43038459	+	synonymous_variant	Silent	SNP	A	A	T	rs755241904	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	35	130	0	ENST00000347162.5:c.1011A>T	p.Ala337=	p.A337=	ENST00000347162	NM_201521.1	337	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4882.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAAAACA	NONE	byFrequency	.	Prints_domain:PR00381,Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13424,Gene3D:1.25.40.10,PROSITE_patterns:PS01160,hmmpanther:PTHR19959:SF138,hmmpanther:PTHR19959,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000259708	.	8/16	.	.	.	.	.	.	.	.	rs755241904	8/16	PASS	ENST00000259708	Transcript	.	.	ENSG00000137171	21624	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC4_HUMAN	KLC4	HGNC	C9K0D5_HUMAN,C9JZE5_HUMAN,C9JXT5_HUMAN,C9JQU1_HUMAN	.	UPI000023C3DA	SNV	KLC4,synonymous_variant,p.%3D,ENST00000479388,;KLC4,synonymous_variant,p.%3D,ENST00000453940,;KLC4,synonymous_variant,p.%3D,ENST00000394056,;KLC4,synonymous_variant,p.%3D,ENST00000259708,;KLC4,synonymous_variant,p.%3D,ENST00000347162,;KLC4,synonymous_variant,p.%3D,ENST00000394058,;KLC4,downstream_gene_variant,,ENST00000470728,;KLC4,downstream_gene_variant,,ENST00000479632,;KLC4,downstream_gene_variant,,ENST00000458460,;RP11-387M24.5,downstream_gene_variant,,ENST00000606123,;KLC4,synonymous_variant,p.%3D,ENST00000469987,;KLC4,3_prime_UTR_variant,,ENST00000467906,;KLC4,non_coding_transcript_exon_variant,,ENST00000463063,;KLC4,downstream_gene_variant,,ENST00000468114,;KLC4,upstream_gene_variant,,ENST00000486439,;KLC4,upstream_gene_variant,,ENST00000463168,;KLC4,downstream_gene_variant,,ENST00000481499,;KLC4,downstream_gene_variant,,ENST00000472172,;	1418	130	146	SUCCESS
TDRD6	221400	.	GRCh37	6	46661686	46661686	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	55	149	0	ENST00000316081.6:c.5821A>T	p.Arg1941Ter	p.R1941*	ENST00000316081	NM_001010870.2	1941	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS34470.1	5821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGAGAAAG	NONE	.	.	.	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,stop_gained,p.Arg1941Ter,ENST00000316081,;TDRD6,stop_gained,p.Arg1941Ter,ENST00000544460,;TDRD6,upstream_gene_variant,,ENST00000450697,;	5821	149	225	SUCCESS
IL17F	112744	.	GRCh37	6	52103728	52103728	+	synonymous_variant	Silent	SNP	C	C	T	rs772321235	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	97	0	ENST00000336123.4:c.54G>A	p.Ser18=	p.S18=	ENST00000336123	NM_052872.3	18	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4938.1	54	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATCGACAG	NONE	byFrequency	.	hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF8,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000337432	.	2/3	.	.	.	.	.	.	.	.	rs772321235	2/3	PASS	ENST00000336123	Transcript	.	.	ENSG00000112116	16404	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL17F_HUMAN	IL17F	HGNC	.	.	UPI0000038A0C	SNV	IL17F,synonymous_variant,p.%3D,ENST00000336123,;IL17F,non_coding_transcript_exon_variant,,ENST00000478427,;	162	97	121	SUCCESS
LY86	9450	.	GRCh37	6	6589096	6589096	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	43	0	ENST00000230568.4:c.129G>C	p.Gln43His	p.Q43H	ENST00000230568	NM_004271.3	43	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS4498.1	129	RADIA|MUTECT|MUSE|VARSCANS	.	TACCAGAGTTG	NONE	.	.	hmmpanther:PTHR20838:SF0,hmmpanther:PTHR20838,Gene3D:2.60.40.770,SMART_domains:SM00737,Superfamily_domains:SSF81296	.	.	ENSP00000369286	.	2/6	.	.	.	.	.	.	.	.	COSM3629190	2/6	PASS	ENST00000379953	Transcript	.	.	ENSG00000112799	16837	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.958)	.	deleterious(0)	1	LY86_HUMAN	LY86	HGNC	.	.	UPI0000001C73	SNV	LY86,missense_variant,p.Gln43His,ENST00000230568,;LY86,missense_variant,p.Gln43His,ENST00000379953,;LY86-AS1,intron_variant,,ENST00000429345,;LY86-AS1,intron_variant,,ENST00000435641,;LY86-AS1,upstream_gene_variant,,ENST00000447858,;	481	43	56	SUCCESS
COL9A1	1297	.	GRCh37	6	70942395	70942395	+	synonymous_variant	Silent	SNP	A	A	T	rs1253102068	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	63	252	0	ENST00000357250.6:c.2394T>A	p.Pro798=	p.P798=	ENST00000357250	NM_001851.4	798	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4971.1	2394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAGGAGG	BUFFER|p.P558P|c.1674C>T|3,BUFFER|p.P801P|c.2403C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000349790	.	36/38	.	.	.	.	.	.	.	.	COSM3875200,COSM3875201,COSM3875202	36/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,synonymous_variant,p.%3D,ENST00000370499,;COL9A1,synonymous_variant,p.%3D,ENST00000320755,;COL9A1,synonymous_variant,p.%3D,ENST00000357250,;RP1-149L1.1,intron_variant,,ENST00000522264,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,non_coding_transcript_exon_variant,,ENST00000486080,;COL9A1,downstream_gene_variant,,ENST00000447041,;COL9A1,downstream_gene_variant,,ENST00000493682,;	2553	252	308	SUCCESS
RIMS1	22999	.	GRCh37	6	72968769	72968769	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	82	0	ENST00000521978.1:c.3008A>T	p.His1003Leu	p.H1003L	ENST00000521978	NM_014989.5	1003	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS47449.1	3008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCATAGAA	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.02)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.His1003Leu,ENST00000491071,;RIMS1,missense_variant,p.His462Leu,ENST00000517827,;RIMS1,missense_variant,p.His396Leu,ENST00000453976,;RIMS1,missense_variant,p.His1002Leu,ENST00000522291,;RIMS1,missense_variant,p.His94Leu,ENST00000522211,;RIMS1,missense_variant,p.His1002Leu,ENST00000520567,;RIMS1,missense_variant,p.His1003Leu,ENST00000518273,;RIMS1,missense_variant,p.His1002Leu,ENST00000517960,;RIMS1,missense_variant,p.His577Leu,ENST00000517433,;RIMS1,missense_variant,p.His477Leu,ENST00000523963,;RIMS1,missense_variant,p.His396Leu,ENST00000425662,;RIMS1,missense_variant,p.His1003Leu,ENST00000264839,;RIMS1,missense_variant,p.His476Leu,ENST00000401910,;RIMS1,missense_variant,p.His1002Leu,ENST00000348717,;RIMS1,missense_variant,p.His228Leu,ENST00000370420,;RIMS1,missense_variant,p.His1003Leu,ENST00000521978,;RIMS1,5_prime_UTR_variant,,ENST00000538414,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	3008	82	93	SUCCESS
COL12A1	1303	.	GRCh37	6	75893246	75893246	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	69	242	0	ENST00000322507.8:c.1411G>T	p.Glu471Ter	p.E471*	ENST00000322507	NM_004370.5	471	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS43482.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCAAAAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000325146	.	10/66	.	.	.	.	.	.	.	.	COSM3629864	10/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,stop_gained,p.Glu471Ter,ENST00000416123,;COL12A1,stop_gained,p.Glu471Ter,ENST00000322507,;COL12A1,stop_gained,p.Glu471Ter,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;	1721	242	290	SUCCESS
HTR1E	3354	.	GRCh37	6	87725224	87725224	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	118	0	ENST00000305344.5:c.172A>T	p.Asn58Tyr	p.N58Y	ENST00000305344	NM_000865.2	58	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS5006.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCAACTAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000307766	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305344	Transcript	.	.	ENSG00000168830	5291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	5HT1E_HUMAN	HTR1E	HGNC	.	.	UPI000000126D	SNV	HTR1E,missense_variant,p.Asn58Tyr,ENST00000305344,;	875	118	142	SUCCESS
RNGTT	8732	.	GRCh37	6	89600237	89600237	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	58	0	ENST00000369485.4:c.873A>T	p.Val291=	p.V291=	ENST00000369485	NM_003800.3	291	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5017.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTACTTT	NONE	.	.	hmmpanther:PTHR10367,hmmpanther:PTHR10367:SF0,Gene3D:3.30.470.30,Pfam_domain:PF01331,PIRSF_domain:PIRSF036958,Superfamily_domains:SSF56091	.	.	ENSP00000358497	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000369485	Transcript	.	.	ENSG00000111880	10073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCE1_HUMAN	RNGTT	HGNC	Q7Z3R6_HUMAN,B4DIQ0_HUMAN	.	UPI000012ED6E	SNV	RNGTT,synonymous_variant,p.%3D,ENST00000369475,;RNGTT,synonymous_variant,p.%3D,ENST00000538899,;RNGTT,synonymous_variant,p.%3D,ENST00000265607,;RNGTT,synonymous_variant,p.%3D,ENST00000369485,;	1060	58	71	SUCCESS
PNISR	25957	.	GRCh37	6	99849420	99849420	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	78	0	ENST00000369239.5:c.1414A>T	p.Arg472Ter	p.R472*	ENST00000369239	NM_032870.2	472	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5043.1	1414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTGCTT	NONE	.	.	hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518	.	.	ENSP00000358242	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369239	Transcript	.	.	ENSG00000132424	21222	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNISR_HUMAN	PNISR	HGNC	Q8TEZ9_HUMAN	.	UPI000013E3A2	SNV	PNISR,stop_gained,p.Arg472Ter,ENST00000369239,;PNISR,stop_gained,p.Arg472Ter,ENST00000438806,;PNISR,non_coding_transcript_exon_variant,,ENST00000476159,;PNISR,non_coding_transcript_exon_variant,,ENST00000460600,;PNISR,intron_variant,,ENST00000481229,;PNISR,3_prime_UTR_variant,,ENST00000478777,;	1619	78	65	SUCCESS
CDHR3	222256	.	GRCh37	7	105653379	105653379	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	33	95	0	ENST00000317716.9:c.1126A>T	p.Ser376Cys	p.S376C	ENST00000317716	NM_152750.4	376	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS47684.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAGTGAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF289,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000325954	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000317716	Transcript	.	.	ENSG00000128536	26308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.09)	.	CDHR3_HUMAN	CDHR3	HGNC	E7EQG5_HUMAN	.	UPI00001C0C6E	SNV	CDHR3,missense_variant,p.Ser288Cys,ENST00000478080,;CDHR3,missense_variant,p.Ser93Cys,ENST00000343407,;CDHR3,missense_variant,p.Ser376Cys,ENST00000542731,;CDHR3,missense_variant,p.Ser376Cys,ENST00000317716,;CDHR3,missense_variant,p.Ser134Cys,ENST00000466045,;CDHR3,3_prime_UTR_variant,,ENST00000541203,;CDHR3,upstream_gene_variant,,ENST00000468477,;CDHR3,non_coding_transcript_exon_variant,,ENST00000470188,;CDHR3,3_prime_UTR_variant,,ENST00000496633,;	1206	95	123	SUCCESS
CBLL1	79872	.	GRCh37	7	107384552	107384552	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	63	0	ENST00000440859.3:c.-57T>A		p.*19*	ENST00000440859	NM_024814.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5747.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCTCGCTG	NONE	.	.	.	.	.	ENSP00000401277	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000440859	Transcript	.	.	ENSG00000105879	21225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAKAI_HUMAN	CBLL1	HGNC	C9J2P9_HUMAN,B4DDV7_HUMAN	.	UPI000006E5AC	SNV	CBLL1,5_prime_UTR_variant,,ENST00000440859,;CBLL1,upstream_gene_variant,,ENST00000415884,;CBLL1,upstream_gene_variant,,ENST00000222597,;CBLL1,upstream_gene_variant,,ENST00000420796,;AC002467.7,non_coding_transcript_exon_variant,,ENST00000457510,;AC002467.7,intron_variant,,ENST00000440971,;AC002467.7,upstream_gene_variant,,ENST00000609979,;CBLL1,non_coding_transcript_exon_variant,,ENST00000479443,;CBLL1,upstream_gene_variant,,ENST00000487517,;CBLL1,upstream_gene_variant,,ENST00000432748,;CBLL1,upstream_gene_variant,,ENST00000493361,;	411	63	76	SUCCESS
WNT2	7472	.	GRCh37	7	116960675	116960675	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	60	0	ENST00000265441.3:c.256A>T	p.Asn86Tyr	p.N86Y	ENST00000265441	NM_003391.2	86	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS5771.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATTCCAGC	NONE	.	.	hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000265441	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000265441	Transcript	.	.	ENSG00000105989	12780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	WNT2_HUMAN	WNT2	HGNC	A4D0V1_HUMAN	.	UPI0000051044	SNV	WNT2,missense_variant,p.Asn86Tyr,ENST00000491214,;WNT2,missense_variant,p.Asn86Tyr,ENST00000265441,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,missense_variant,p.Asn86Tyr,ENST00000449446,;WNT2,non_coding_transcript_exon_variant,,ENST00000461427,;	556	60	86	SUCCESS
NDUFA5	4698	.	GRCh37	7	123190558	123190558	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	45	0	ENST00000355749.2:c.149A>T	p.Gln50Leu	p.Q50L	ENST00000355749	NM_005000.2	50	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5788.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCTGTTCT	NONE	.	.	hmmpanther:PTHR12653,Pfam_domain:PF04716	.	.	ENSP00000347988	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000355749	Transcript	.	.	ENSG00000128609	7688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.04)	.	NDUA5_HUMAN	NDUFA5	HGNC	.	.	UPI000015A49C	SNV	NDUFA5,missense_variant,p.Gln60Leu,ENST00000470123,;NDUFA5,missense_variant,p.Gln50Leu,ENST00000471770,;NDUFA5,missense_variant,p.Gln46Leu,ENST00000378795,;NDUFA5,missense_variant,p.Gln50Leu,ENST00000355749,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000467117,;NDUFA5,missense_variant,p.Gln50Leu,ENST00000466896,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000491033,;NDUFA5,non_coding_transcript_exon_variant,,ENST00000492549,;NDUFA5,downstream_gene_variant,,ENST00000490618,;NDUFA5,upstream_gene_variant,,ENST00000459880,;	609	45	71	SUCCESS
RBM28	55131	.	GRCh37	7	127965868	127965868	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	71	0	ENST00000223073.2:c.1203+3A>T		p.X401_splice	ENST00000223073	NM_018077.2	401		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5801.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTACCTC	NONE	.	.	.	.	.	ENSP00000223073	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000223073	Transcript	.	.	ENSG00000106344	21863	.	.	LOW	11/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBM28_HUMAN	RBM28	HGNC	.	.	UPI000006FFF1	SNV	RBM28,splice_region_variant,,ENST00000223073,;RBM28,splice_region_variant,,ENST00000415472,;RBM28,upstream_gene_variant,,ENST00000481788,;RBM28,intron_variant,,ENST00000487602,;	.	71	93	SUCCESS
METTL2B	55798	.	GRCh37	7	128141930	128141930	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	34	117	0	ENST00000262432.8:c.1097A>T	p.Gln366Leu	p.Q366L	ENST00000262432	NM_018396.2	366	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5803.2	1097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCAGTGCA	NONE	.	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF4,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335	.	.	ENSP00000262432	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000262432	Transcript	.	.	ENSG00000165055	18272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MET2B_HUMAN	METTL2B	HGNC	.	.	UPI000020FA36	SNV	METTL2B,missense_variant,p.Gln366Leu,ENST00000262432,;METTL2B,missense_variant,p.Gln301Leu,ENST00000480046,;METTL2B,intron_variant,,ENST00000481392,;METTL2B,non_coding_transcript_exon_variant,,ENST00000482555,;METTL2B,downstream_gene_variant,,ENST00000497665,;	1134	117	180	SUCCESS
PLXNA4	91584	.	GRCh37	7	131833393	131833393	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	50	0	ENST00000321063.4:c.4673G>A	p.Gly1558Glu	p.G1558E	ENST00000321063	NM_020911.1	1558	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS43646.1	4673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCCTTGT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337,Gene3D:3.10.20.90	.	.	ENSP00000352882	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.428)	.	deleterious(0.01)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Gly1558Glu,ENST00000321063,;PLXNA4,missense_variant,p.Gly1558Glu,ENST00000359827,;PLXNA4,upstream_gene_variant,,ENST00000496550,;	5636	50	38	SUCCESS
EXOC4	60412	.	GRCh37	7	133749242	133749242	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	30	0	ENST00000253861.4:c.2886C>A	p.Ile962=	p.I962=	ENST00000253861	NM_021807.3	962	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5829.1	2886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCAAGCA	NONE	.	.	hmmpanther:PTHR14146	.	.	ENSP00000253861	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000253861	Transcript	.	.	ENSG00000131558	30389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOC4_HUMAN	EXOC4	HGNC	B7Z4J9_HUMAN,B7Z321_HUMAN	.	UPI0000135758	SNV	EXOC4,synonymous_variant,p.%3D,ENST00000541309,;EXOC4,synonymous_variant,p.%3D,ENST00000545148,;EXOC4,synonymous_variant,p.%3D,ENST00000539845,;EXOC4,synonymous_variant,p.%3D,ENST00000253861,;EXOC4,non_coding_transcript_exon_variant,,ENST00000466000,;EXOC4,non_coding_transcript_exon_variant,,ENST00000468932,;EXOC4,downstream_gene_variant,,ENST00000459626,;	2915	30	31	SUCCESS
WDR91	29062	.	GRCh37	7	134894482	134894482	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	69	0	ENST00000354475.4:c.149A>T	p.Gln50Leu	p.Q50L	ENST00000354475	NM_014149.3	50	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34758.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCTGCAGC	NONE	.	.	hmmpanther:PTHR13083	.	.	ENSP00000346466	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000354475	Transcript	.	.	ENSG00000105875	24997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.82)	.	WDR91_HUMAN	WDR91	HGNC	.	.	UPI000006F2DE	SNV	WDR91,missense_variant,p.Gln50Leu,ENST00000354475,;WDR91,missense_variant,p.Gln50Leu,ENST00000344400,;WDR91,missense_variant,p.Gln15Leu,ENST00000423565,;WDR91,upstream_gene_variant,,ENST00000485942,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;	181	69	92	SUCCESS
PRSS58	136541	.	GRCh37	7	141952124	141952124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	39	122	0	ENST00000547058.2:c.643T>A	p.Cys215Ser	p.C215S	ENST00000547058	NM_001001317.3	215	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS5871.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACATCCAT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF46,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000446916	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000552471	Transcript	.	.	ENSG00000258223	39125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PRS58_HUMAN	PRSS58	HGNC	.	.	UPI000004C649	SNV	PRSS58,missense_variant,p.Cys215Ser,ENST00000547058,;PRSS58,missense_variant,p.Cys215Ser,ENST00000552471,;	963	122	138	SUCCESS
VIPR2	7434	.	GRCh37	7	158851257	158851257	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs183752740	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	51	0	ENST00000262178.2:c.370A>T	p.Ile124Phe	p.I124F	ENST00000262178	NM_003382.4	124	Att/Ttt	0	.	A:0	.	A:0.0014	.	A	I/F	protein_coding	YES	CCDS5950.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATATAAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Superfamily_domains:SSF111418,Prints_domain:PR01155	A:0	.	ENSP00000262178	A:0	5/13	.	.	.	.	.	.	.	.	rs183752740	5/13	PASS	ENST00000262178	Transcript	.	A:0.0002	ENSG00000106018	12695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	A:0	tolerated(0.73)	.	VIPR2_HUMAN	VIPR2	HGNC	Q71V81_HUMAN	.	UPI0000055A9A	SNV	VIPR2,missense_variant,p.Ile124Phe,ENST00000262178,;VIPR2,missense_variant,p.Ile108Phe,ENST00000377633,;VIPR2,missense_variant,p.Ile265Phe,ENST00000402066,;	556	51	61	SUCCESS
KLHL7	55975	.	GRCh37	7	23164366	23164366	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	78	0	ENST00000339077.5:c.283A>T	p.Ile95Phe	p.I95F	ENST00000339077	NM_001031710.2	95	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS34609.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTATTGAA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF151,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000343273	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000339077	Transcript	.	.	ENSG00000122550	15646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0.04)	.	KLHL7_HUMAN	KLHL7	HGNC	E5RFN1_HUMAN,B7Z4N7_HUMAN,B7Z3P9_HUMAN	.	UPI0000037B12	SNV	KLHL7,missense_variant,p.Ile73Phe,ENST00000545771,;KLHL7,missense_variant,p.Ile47Phe,ENST00000409689,;KLHL7,missense_variant,p.Ile19Phe,ENST00000539124,;KLHL7,missense_variant,p.Ile95Phe,ENST00000339077,;KLHL7,missense_variant,p.Ile73Phe,ENST00000322231,;KLHL7,missense_variant,p.Ile73Phe,ENST00000545443,;KLHL7,missense_variant,p.Ile73Phe,ENST00000410047,;KLHL7,missense_variant,p.Ile95Phe,ENST00000322275,;KLHL7,intron_variant,,ENST00000542558,;KLHL7,non_coding_transcript_exon_variant,,ENST00000459661,;KLHL7,non_coding_transcript_exon_variant,,ENST00000479700,;KLHL7,intron_variant,,ENST00000479288,;KLHL7,3_prime_UTR_variant,,ENST00000521082,;KLHL7,non_coding_transcript_exon_variant,,ENST00000491352,;KLHL7,upstream_gene_variant,,ENST00000477076,;AK3P3,upstream_gene_variant,,ENST00000431883,;	526	78	78	SUCCESS
HOXA10	3206	.	GRCh37	7	27211677	27211677	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	36	118	0	ENST00000283921.4:c.1074T>C	p.Asn358=	p.N358=	ENST00000283921	NM_018951.3	358	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS5410.2	1074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATATTGAA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF139,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024	.	.	ENSP00000283921	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000283921	Transcript	.	.	ENSG00000253293	5100	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA10_HUMAN	HOXA10	HGNC	.	.	UPI0000EE42DA	SNV	HOXA10,synonymous_variant,p.%3D,ENST00000396344,;HOXA10,synonymous_variant,p.%3D,ENST00000283921,;RP1-170O19.20,intron_variant,,ENST00000470747,;MIR196B,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10,non_coding_transcript_exon_variant,,ENST00000519593,;HOXA10,non_coding_transcript_exon_variant,,ENST00000521421,;HOXA10,non_coding_transcript_exon_variant,,ENST00000524368,;RP1-170O19.20,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000489695,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA9,upstream_gene_variant,,ENST00000487384,;	1074	118	139	SUCCESS
NPSR1	387129	.	GRCh37	7	34889208	34889208	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	33	135	0	ENST00000360581.1:c.1057T>G	p.Phe353Val	p.F353V	ENST00000360581	NM_207172.1	353	Ttc/Gtc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5443.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGTTCCGG	NONE	.	.	.	.	.	ENSP00000352839	.	.	.	.	.	.	.	.	.	.	COSM601241	.	PASS	ENST00000359791	Transcript	.	.	ENSG00000187258	23631	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,missense_variant,p.Val386Gly,ENST00000381539,;NPSR1,missense_variant,p.Phe287Val,ENST00000381542,;NPSR1,missense_variant,p.Phe353Val,ENST00000360581,;NPSR1,intron_variant,,ENST00000359791,;NPSR1,intron_variant,,ENST00000531252,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1,3_prime_UTR_variant,,ENST00000381544,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;	.	135	131	SUCCESS
SDK1	221935	.	GRCh37	7	3658710	3658710	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	132	0	ENST00000404826.2:c.299-2A>T		p.X100_splice	ENST00000404826	NM_152744.3	100		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34590.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAGATGA	NONE	.	.	.	.	.	ENSP00000385899	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	HIGH	1/44	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,splice_acceptor_variant,,ENST00000404826,;SDK1,splice_acceptor_variant,,ENST00000389531,;	.	132	119	SUCCESS
ABCA13	154664	.	GRCh37	7	48550698	48550698	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767565751	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	57	0	ENST00000435803.1:c.13543G>C	p.Val4515Leu	p.V4515L	ENST00000435803	NM_152701.3	4515	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS47584.1	13543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCGTCTGC	NONE	byFrequency	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Transmembrane_helices:TMhelix	.	.	ENSP00000411096	.	51/62	.	.	.	.	.	.	.	.	rs767565751	51/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Val4515Leu,ENST00000435803,;ABCA13,missense_variant,p.Val36Leu,ENST00000435451,;ABCA13,missense_variant,p.Val245Leu,ENST00000544596,;ABCA13,missense_variant,p.Val288Leu,ENST00000411975,;ABCA13,missense_variant,p.Val781Leu,ENST00000453246,;	13567	57	72	SUCCESS
COBL	23242	.	GRCh37	7	51095925	51095925	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	22	101	0	ENST00000265136.7:c.2868C>G	p.Gly956=	p.G956=	ENST00000265136	NM_015198.3	956	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS34637.1	2868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGGCCAAT	NONE	.	.	hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	.	.	ENSP00000265136	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,synonymous_variant,p.%3D,ENST00000431948,;COBL,synonymous_variant,p.%3D,ENST00000265136,;COBL,synonymous_variant,p.%3D,ENST00000395542,;COBL,synonymous_variant,p.%3D,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	3034	101	125	SUCCESS
ZNF107	51427	.	GRCh37	7	64167010	64167010	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	27	144	0	ENST00000344930.3:c.328A>T	p.Ser110Cys	p.S110C	ENST00000344930	NM_001013746.1	110	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS5527.1	328	RADIA|MUTECT|MUSE|VARSCANS	.	AATGTAGCAAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,PROSITE_profiles:PS50157	.	.	ENSP00000378789	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395391	Transcript	.	.	ENSG00000196247	12887	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.791)	.	deleterious(0.03)	.	ZN107_HUMAN	ZNF107	HGNC	Q9H3U2_HUMAN,C9JSF9_HUMAN	.	UPI000000DBC2	SNV	ZNF107,missense_variant,p.Ser110Cys,ENST00000344930,;ZNF107,missense_variant,p.Ser110Cys,ENST00000395391,;ZNF107,missense_variant,p.Ser110Cys,ENST00000423627,;ZNF107,downstream_gene_variant,,ENST00000360117,;	1703	144	172	SUCCESS
LIMK1	3984	.	GRCh37	7	73520454	73520454	+	synonymous_variant	Silent	SNP	C	C	T	rs114886936	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	92	0	ENST00000336180.2:c.762C>T	p.Leu254=	p.L254=	ENST00000336180	NM_002314.3	254	ctC/ctT	0	T:0.0002	T:0.0015	.	T:0	.	T	L	protein_coding	YES	CCDS5563.1	762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTCGAGCA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379,PROSITE_profiles:PS50106	T:0	T:0	ENSP00000336740	T:0	7/16	.	.	.	.	.	.	.	.	rs114886936	7/16	PASS	ENST00000336180	Transcript	.	T:0.0004	ENSG00000106683	6613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LIMK1_HUMAN	LIMK1	HGNC	Q75MU4_HUMAN	.	UPI000013D678	SNV	LIMK1,synonymous_variant,p.%3D,ENST00000418310,;LIMK1,synonymous_variant,p.%3D,ENST00000538333,;LIMK1,synonymous_variant,p.%3D,ENST00000336180,;LIMK1,downstream_gene_variant,,ENST00000491052,;LIMK1,synonymous_variant,p.%3D,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000483414,;	813	92	85	SUCCESS
LAT2	7462	.	GRCh37	7	73639059	73639059	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	52	0	ENST00000275635.7:c.719C>A	p.Ala240Asp	p.A240D	ENST00000275635	NM_032463.2	240	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS5566.2	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCACAG	NONE	.	.	hmmpanther:PTHR15646	.	.	ENSP00000420494	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000460943	Transcript	.	.	ENSG00000086730	12749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	NTAL_HUMAN	LAT2	HGNC	F8W947_HUMAN,C9JDY7_HUMAN,C9JA24_HUMAN	.	UPI0000037782	SNV	LAT2,missense_variant,p.Ala240Asp,ENST00000460943,;LAT2,missense_variant,p.Ala240Asp,ENST00000398475,;LAT2,missense_variant,p.Ala240Asp,ENST00000344995,;LAT2,missense_variant,p.Ala240Asp,ENST00000275635,;LAT2,downstream_gene_variant,,ENST00000361082,;LAT2,downstream_gene_variant,,ENST00000475494,;LAT2,downstream_gene_variant,,ENST00000470709,;LAT2,downstream_gene_variant,,ENST00000465116,;LAT2,3_prime_UTR_variant,,ENST00000488266,;LAT2,non_coding_transcript_exon_variant,,ENST00000490586,;	1608	52	76	SUCCESS
PTPN12	5782	.	GRCh37	7	77256052	77256052	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	71	0	ENST00000248594.6:c.1056A>C	p.Glu352Asp	p.E352D	ENST00000248594	NM_002835.3	352	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS5592.1	1056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAATACT	NONE	.	.	PIRSF_domain:PIRSF000932,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF33	.	.	ENSP00000248594	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000248594	Transcript	.	.	ENSG00000127947	9645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.817)	.	tolerated(0.06)	.	PTN12_HUMAN	PTPN12	HGNC	F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN	.	UPI000013CC4C	SNV	PTPN12,missense_variant,p.Glu233Asp,ENST00000415482,;PTPN12,missense_variant,p.Glu222Asp,ENST00000435495,;PTPN12,missense_variant,p.Glu352Asp,ENST00000248594,;PTPN12,upstream_gene_variant,,ENST00000407343,;	1328	71	86	SUCCESS
GNAT3	346562	.	GRCh37	7	80117908	80117908	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	67	0	ENST00000398291.3:c.246A>T	p.Leu82=	p.L82=	ENST00000398291	NM_001102386.1	82	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47625.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTAGGAT	NONE	.	.	Prints_domain:PR00441,Superfamily_domains:SSF47895,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:1.10.400.10,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	.	.	ENSP00000381339	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000398291	Transcript	.	.	ENSG00000214415	22800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNAT3_HUMAN	GNAT3	HGNC	.	.	UPI0000198E14	SNV	GNAT3,synonymous_variant,p.%3D,ENST00000398291,;CD36,intron_variant,,ENST00000435819,;	340	67	74	SUCCESS
HGF	3082	.	GRCh37	7	81331975	81331975	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	257	73	260	0	ENST00000222390.5:c.2109T>A	p.Pro703=	p.P703=	ENST00000222390	NM_000601.4	703	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5597.1	2109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCAGGACG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF500183,SMART_domains:SM00020,PIRSF_domain:PIRSF001152,Superfamily_domains:SSF50494	.	.	ENSP00000222390	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,synonymous_variant,p.%3D,ENST00000457544,;HGF,synonymous_variant,p.%3D,ENST00000222390,;	2336	260	330	SUCCESS
PCLO	27445	.	GRCh37	7	82546002	82546002	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	65	0	ENST00000333891.9:c.11300A>T	p.Asp3767Val	p.D3767V	ENST00000333891	NM_033026.5	3767	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS47630.1	11300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTCTATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Asp487Val,ENST00000437081,;PCLO,missense_variant,p.Asp3767Val,ENST00000333891,;PCLO,missense_variant,p.Asp3767Val,ENST00000423517,;	11638	65	85	SUCCESS
PCLO	27445	.	GRCh37	7	82595396	82595396	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	40	119	0	ENST00000333891.9:c.3708A>T	p.Leu1236=	p.L1236=	ENST00000333891	NM_033026.5	1236	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47630.1	3708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,downstream_gene_variant,,ENST00000461143,;	4046	119	171	SUCCESS
GRM3	2913	.	GRCh37	7	86394697	86394698	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	116	23	81	0	ENST00000361669.2:c.237dup	p.Asn80GlnfsTer4	p.N80Qfs*4	ENST00000361669	NM_000840.2	79	atc/atCc	0	.	.	.	.	.	C	I/IX	protein_coding	YES	CCDS5600.1	236-237	VARSCANI*|PINDEL	.	TGAAATCAACA	NONE	.	.	hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000355316	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000361669	Transcript	.	.	ENSG00000198822	4595	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRM3_HUMAN	GRM3	HGNC	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN	.	UPI0000153EFC	insertion	GRM3,frameshift_variant,p.Asn80GlnfsTer4,ENST00000439827,;GRM3,frameshift_variant,p.Asn80GlnfsTer?,ENST00000441140,;GRM3,frameshift_variant,p.Asn80GlnfsTer4,ENST00000421579,;GRM3,frameshift_variant,p.Asn80GlnfsTer4,ENST00000361669,;GRM3,frameshift_variant,p.Asn78GlnfsTer4,ENST00000394720,;GRM3,intron_variant,,ENST00000536043,;GRM3,intron_variant,,ENST00000454217,;GRM3,intron_variant,,ENST00000546348,;	1335-1336	81	139	SUCCESS
COL1A2	1278	.	GRCh37	7	94053728	94053728	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	66	0	ENST00000297268.6:c.2646T>C	p.Arg882=	p.R882=	ENST00000297268	NM_000089.3	882	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS34682.1	2646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGTGGTCT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	.	.	ENSP00000297268	.	41/52	.	.	.	.	.	.	.	.	.	41/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,synonymous_variant,p.%3D,ENST00000297268,;COL1A2,non_coding_transcript_exon_variant,,ENST00000469732,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000467931,;	3117	66	87	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110439372	110439372	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	94	0	ENST00000378402.5:c.2987A>T	p.Gln996Leu	p.Q996L	ENST00000378402	NM_177531.4	996	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47911.1	2987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCAGAATC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	.	.	ENSP00000367655	.	25/78	.	.	.	.	.	.	.	.	.	25/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.07)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Gln996Leu,ENST00000378402,;	3091	94	79	SUCCESS
CSMD3	114788	.	GRCh37	8	113585883	113585883	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	53	0	ENST00000297405.5:c.3889T>A	p.Tyr1297Asn	p.Y1297N	ENST00000297405	NM_198123.1	1297	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS6315.1	3889	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATAAATCT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	24/71	.	.	.	.	.	.	.	.	.	24/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Tyr1297Asn,ENST00000352409,;CSMD3,missense_variant,p.Tyr1193Asn,ENST00000455883,;CSMD3,missense_variant,p.Tyr1297Asn,ENST00000297405,;CSMD3,missense_variant,p.Tyr637Asn,ENST00000339701,;CSMD3,missense_variant,p.Tyr1257Asn,ENST00000343508,;	4134	53	78	SUCCESS
CSMD3	114788	.	GRCh37	8	113585884	113585884	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	54	0	ENST00000297405.5:c.3888T>A		p.X1296_splice	ENST00000297405	NM_198123.1	1296	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS6315.1	3888	RADIA|MUTECT|MUSE|VARSCANS	.	TCATAAATCTG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	24/71	.	.	.	.	.	.	.	.	.	24/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	4133	54	77	SUCCESS
TAF2	6873	.	GRCh37	8	120809963	120809963	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1476157767	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	64	0	ENST00000378164.2:c.916A>T	p.Thr306Ser	p.T306S	ENST00000378164	NM_003184.3	306	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS34937.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGTCTTAA	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR15137	.	.	ENSP00000367406	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000378164	Transcript	1	.	ENSG00000064313	11536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.15)	.	TAF2_HUMAN	TAF2	HGNC	.	.	UPI0000210507	SNV	TAF2,missense_variant,p.Thr37Ser,ENST00000523904,;TAF2,missense_variant,p.Thr306Ser,ENST00000378164,;	1215	64	102	SUCCESS
FAM83A	84985	.	GRCh37	8	124219614	124219614	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	35	137	0	ENST00000518448.1:c.991T>C	p.Ser331Pro	p.S331P	ENST00000518448		331	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6340.1	991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF1	.	.	ENSP00000428876	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000518448	Transcript	.	.	ENSG00000147689	28210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.43)	.	FA83A_HUMAN	FAM83A	HGNC	.	.	UPI000019275C	SNV	FAM83A,missense_variant,p.Ser275Pro,ENST00000522648,;FAM83A,missense_variant,p.Ser331Pro,ENST00000518448,;FAM83A,missense_variant,p.Ser331Pro,ENST00000536633,;FAM83A,missense_variant,p.Ser331Pro,ENST00000276699,;FAM83A,missense_variant,p.Ser275Pro,ENST00000546351,;FAM83A,missense_variant,p.Ser331Pro,ENST00000318462,;FAM83A-AS1,upstream_gene_variant,,ENST00000517519,;FAM83A-AS1,upstream_gene_variant,,ENST00000523330,;FAM83A-AS1,upstream_gene_variant,,ENST00000520576,;	3005	138	149	SUCCESS
GSDMC	56169	.	GRCh37	8	130774950	130774950	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	37	0	ENST00000276708.4:c.598G>C	p.Val200Leu	p.V200L	ENST00000276708	NM_031415.2	200	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS6360.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACTCTGA	NONE	.	.	hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17,Pfam_domain:PF04598	.	.	ENSP00000276708	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000276708	Transcript	.	.	ENSG00000147697	7151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	tolerated(0.14)	.	GSDMC_HUMAN	GSDMC	HGNC	.	.	UPI0000071445	SNV	GSDMC,missense_variant,p.Val200Leu,ENST00000276708,;	1480	37	73	SUCCESS
ADCY8	114	.	GRCh37	8	131896933	131896933	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	20	107	0	ENST00000286355.5:c.1986T>A	p.Ser662=	p.S662=	ENST00000286355	NM_001115.2	662	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6363.1	1986	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCAGACTG	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF06327	.	.	ENSP00000286355	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;	4079	107	140	SUCCESS
GLI4	2738	.	GRCh37	8	144358897	144358897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	79	0	ENST00000340042.1:c.1054G>T	p.Ala352Ser	p.A352S	ENST00000340042	NM_138465.3	352	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6398.1	1054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCGCGTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF122,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000345024	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340042	Transcript	.	.	ENSG00000250571	4320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.61)	.	GLI4_HUMAN	GLI4	HGNC	.	.	UPI0000070432	SNV	GLI4,missense_variant,p.Ala352Ser,ENST00000340042,;GLI4,missense_variant,p.Ala352Ser,ENST00000523522,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000344692,;ZFP41,downstream_gene_variant,,ENST00000522452,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000520021,;RP13-582O9.5,downstream_gene_variant,,ENST00000519852,;RP13-582O9.5,downstream_gene_variant,,ENST00000523031,;RP13-582O9.5,downstream_gene_variant,,ENST00000524335,;RP13-582O9.5,downstream_gene_variant,,ENST00000518073,;RP13-582O9.5,downstream_gene_variant,,ENST00000517411,;RP13-582O9.5,downstream_gene_variant,,ENST00000521207,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522033,;	1139	79	79	SUCCESS
MAF1	84232	.	GRCh37	8	145160983	145160983	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs200075787	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	47	194	1	ENST00000322428.5:c.217A>T	p.Ser73Cys	p.S73C	ENST00000322428	NM_032272.4	73	Agc/Tgc	0	G:0	.	.	.	.	T	S/C	protein_coding	YES	CCDS6416.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCAGCAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22504,hmmpanther:PTHR22504:SF1,Pfam_domain:PF09174,PIRSF_domain:PIRSF037240	.	G:0.0002	ENSP00000318604	.	4/8	.	.	.	.	.	.	.	.	rs200075787	4/8	PASS	ENST00000322428	Transcript	.	.	ENSG00000179632	24966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.09)	.	MAF1_HUMAN	MAF1	HGNC	E9PJ05_HUMAN	.	UPI0000140E10	SNV	MAF1,missense_variant,p.Ser73Cys,ENST00000534585,;MAF1,missense_variant,p.Ser73Cys,ENST00000532522,;MAF1,missense_variant,p.Ser73Cys,ENST00000322428,;MAF1,missense_variant,p.Ser73Cys,ENST00000527058,;SHARPIN,upstream_gene_variant,,ENST00000398712,;MAF1,downstream_gene_variant,,ENST00000527572,;KIAA1875,upstream_gene_variant,,ENST00000323662,;MAF1,upstream_gene_variant,,ENST00000534811,;SHARPIN,intron_variant,,ENST00000533184,;SHARPIN,upstream_gene_variant,,ENST00000533948,;KIAA1875,upstream_gene_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000534242,;KIAA1875,upstream_gene_variant,,ENST00000534167,;SHARPIN,upstream_gene_variant,,ENST00000534435,;SHARPIN,upstream_gene_variant,,ENST00000359551,;SHARPIN,upstream_gene_variant,,ENST00000531375,;KIAA1875,upstream_gene_variant,,ENST00000525150,;KIAA1875,upstream_gene_variant,,ENST00000528691,;	621	195	246	SUCCESS
PTK2B	2185	.	GRCh37	8	27294711	27294711	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs748911697	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	81	0	ENST00000346049.5:c.1414A>G	p.Met472Val	p.M472V	ENST00000346049	NM_173176.2	472	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS6057.1	1414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCATGAGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF94,PROSITE_profiles:PS50011	.	.	ENSP00000380638	.	21/36	.	.	.	.	.	.	.	.	rs748911697	21/36	PASS	ENST00000397501	Transcript	.	.	ENSG00000120899	9612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.01)	.	FAK2_HUMAN	PTK2B	HGNC	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN	.	UPI000000D9EC	SNV	PTK2B,missense_variant,p.Met472Val,ENST00000338238,;PTK2B,missense_variant,p.Met472Val,ENST00000517339,;PTK2B,missense_variant,p.Met472Val,ENST00000420218,;PTK2B,missense_variant,p.Met218Val,ENST00000397497,;PTK2B,missense_variant,p.Met472Val,ENST00000544172,;PTK2B,missense_variant,p.Met472Val,ENST00000397501,;PTK2B,missense_variant,p.Met472Val,ENST00000346049,;PTK2B,downstream_gene_variant,,ENST00000519512,;PTK2B,upstream_gene_variant,,ENST00000495097,;PTK2B,downstream_gene_variant,,ENST00000461615,;	2222	81	76	SUCCESS
EXTL3	2137	.	GRCh37	8	28574021	28574021	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	55	0	ENST00000220562.4:c.445A>T	p.Asn149Tyr	p.N149Y	ENST00000220562	NM_001440.3	149	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS6070.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAACCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57	.	.	ENSP00000220562	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000220562	Transcript	.	.	ENSG00000012232	3518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(0.06)	.	EXTL3_HUMAN	EXTL3	HGNC	E5RIV6_HUMAN,B4DG91_HUMAN	.	UPI000012A35D	SNV	EXTL3,missense_variant,p.Asn149Tyr,ENST00000220562,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,intron_variant,,ENST00000523149,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,upstream_gene_variant,,ENST00000522698,;	1347	55	62	SUCCESS
DUSP4	1846	.	GRCh37	8	29195843	29195843	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	17	97	0	ENST00000240100.2:c.755A>T	p.Lys252Met	p.K252M	ENST00000240100	NM_001394.6	252	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS6072.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCTTGTGG	NONE	.	.	PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF111,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,SMART_domains:SM00404,PIRSF_domain:PIRSF000939,Superfamily_domains:SSF52799	.	.	ENSP00000240100	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000240100	Transcript	.	.	ENSG00000120875	3070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.29)	.	DUS4_HUMAN	DUSP4	HGNC	.	.	UPI00000362F4	SNV	DUSP4,missense_variant,p.Lys161Met,ENST00000240101,;DUSP4,missense_variant,p.Lys252Met,ENST00000240100,;	1145	97	105	SUCCESS
CSMD1	64478	.	GRCh37	8	3266978	3266978	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	75	0	ENST00000537824.1:c.1711A>T	p.Asn571Tyr	p.N571Y	ENST00000537824	NM_033225.5	571	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS55189.1	1711	RADIA|MUTECT|MUSE|VARSCANS	.	CTGATTGTTCT	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	13/70	.	.	.	.	.	.	.	.	.	13/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Asn572Tyr,ENST00000400186,;CSMD1,missense_variant,p.Asn571Tyr,ENST00000542608,;CSMD1,missense_variant,p.Asn572Tyr,ENST00000602723,;CSMD1,missense_variant,p.Asn52Tyr,ENST00000335551,;CSMD1,missense_variant,p.Asn571Tyr,ENST00000539096,;CSMD1,missense_variant,p.Asn571Tyr,ENST00000537824,;CSMD1,missense_variant,p.Asn572Tyr,ENST00000602557,;CSMD1,missense_variant,p.Asn572Tyr,ENST00000520002,;	1711	75	86	SUCCESS
KCNU1	157855	.	GRCh37	8	36768468	36768468	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	30	0	ENST00000399881.3:c.2352A>T	p.Gly784=	p.G784=	ENST00000399881	NM_001031836.2	784	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS55220.1	2352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGAGACCT	NONE	.	.	Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,synonymous_variant,p.%3D,ENST00000399881,;KCNU1,synonymous_variant,p.%3D,ENST00000522372,;	2389	30	34	SUCCESS
PXDNL	137902	.	GRCh37	8	52361632	52361632	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	58	192	0	ENST00000356297.4:c.1296A>C	p.Glu432Asp	p.E432D	ENST00000356297	NM_144651.4	432	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS47855.1	1296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTTCCAG	NONE	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348645	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.1)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Glu432Asp,ENST00000543296,;PXDNL,missense_variant,p.Glu432Asp,ENST00000356297,;	1397	193	241	SUCCESS
ST18	9705	.	GRCh37	8	53044593	53044593	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754863569	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	32	108	0	ENST00000276480.7:c.2591A>T	p.Gln864Leu	p.Q864L	ENST00000276480	NM_014682.2	864	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6149.1	2591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTGTTTG	NONE	byFrequency	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	.	.	ENSP00000276480	.	22/26	.	.	.	.	.	.	.	.	rs754863569	22/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.06)	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,missense_variant,p.Gln864Leu,ENST00000276480,;ST18,downstream_gene_variant,,ENST00000518501,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,non_coding_transcript_exon_variant,,ENST00000522861,;ST18,non_coding_transcript_exon_variant,,ENST00000518053,;	3275	108	127	SUCCESS
SDR16C6P	442388	.	GRCh37	8	57287374	57287374	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	30	0	ENST00000524136.2:n.727C>A		p.*243*	ENST00000524136				0	.	.	.	.	.	T	.	unitary_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGCTCCA	NONE	.	.	.	.	.	.	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000524136	Transcript	.	.	ENSG00000253542	35413	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SDR16C6P	HGNC	.	.	.	SNV	SDR16C6P,non_coding_transcript_exon_variant,,ENST00000517787,;SDR16C6P,non_coding_transcript_exon_variant,,ENST00000524136,;	727	30	50	SUCCESS
MCPH1	79648	.	GRCh37	8	6266840	6266840	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	69	0	ENST00000344683.5:c.63A>T	p.Thr21=	p.T21=	ENST00000344683	NM_024596.3	21	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43689.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACAGAAAA	NONE	.	.	PROSITE_profiles:PS50172,hmmpanther:PTHR14625:SF3,hmmpanther:PTHR14625,Pfam_domain:PF12738,Gene3D:3.40.50.10190,SMART_domains:SM00292,Superfamily_domains:SSF52113	.	.	ENSP00000342924	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000344683	Transcript	1	.	ENSG00000147316	6954	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MCPH1	HGNC	Q6W7E5_HUMAN,Q6RBX4_HUMAN,Q6RBQ8_HUMAN,Q6RBJ2_HUMAN,Q6RBC6_HUMAN,Q6RB60_HUMAN,Q6RAZ4_HUMAN,Q6RAP8_HUMAN,Q6RAB6_HUMAN,Q6RA50_HUMAN	.	UPI000020FF7E	SNV	MCPH1,synonymous_variant,p.%3D,ENST00000519480,;MCPH1,synonymous_variant,p.%3D,ENST00000522905,;MCPH1,synonymous_variant,p.%3D,ENST00000344683,;RP11-115C21.2,upstream_gene_variant,,ENST00000500118,;RP11-115C21.2,upstream_gene_variant,,ENST00000606853,;RP11-115C21.2,upstream_gene_variant,,ENST00000523225,;	139	69	94	SUCCESS
SULF1	23213	.	GRCh37	8	70501222	70501222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	26	133	0	ENST00000260128.4:c.580T>A	p.Leu194Ile	p.L194I	ENST00000260128	NM_015170.2	194	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS6204.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTTAATC	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	.	.	ENSP00000260128	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000260128	Transcript	.	.	ENSG00000137573	20391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.85)	.	deleterious(0.05)	.	SULF1_HUMAN	SULF1	HGNC	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN	.	UPI000003FD82	SNV	SULF1,missense_variant,p.Leu194Ile,ENST00000419716,;SULF1,missense_variant,p.Leu194Ile,ENST00000260128,;SULF1,missense_variant,p.Leu194Ile,ENST00000402687,;SULF1,missense_variant,p.Leu194Ile,ENST00000458141,;SULF1,downstream_gene_variant,,ENST00000525999,;SULF1,intron_variant,,ENST00000531064,;SULF1,upstream_gene_variant,,ENST00000521946,;SULF1,upstream_gene_variant,,ENST00000534088,;SULF1,downstream_gene_variant,,ENST00000526808,;SULF1,upstream_gene_variant,,ENST00000528146,;	1297	133	146	SUCCESS
OR1J1	347168	.	GRCh37	9	125240200	125240200	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777428975	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	79	0	ENST00000259357.2:c.6C>A	p.Ser2Arg	p.S2R	ENST00000259357	NM_001004451.1	2	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS35120.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGCTCAT	NONE	byFrequency	.	hmmpanther:PTHR26451:SF213,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000259357	.	1/1	.	.	.	.	.	.	.	.	rs777428975	1/1	PASS	ENST00000259357	Transcript	.	.	ENSG00000136834	8208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	OR1J1_HUMAN	OR1J1	HGNC	.	.	UPI0000061E79	SNV	OR1J1,missense_variant,p.Ser2Arg,ENST00000259357,;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	36	79	115	SUCCESS
RALGDS	5900	.	GRCh37	9	135977865	135977865	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1290747642	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	24	0	ENST00000372050.3:c.2007C>T		p.X669_splice	ENST00000372050	NM_006266.3	669	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6959.1	2007	RADIA|MUTECT|MUSE|VARSCANS	.	TACTCGCTCCA	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35,Superfamily_domains:0041591	.	.	ENSP00000361120	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000372050	Transcript	.	.	ENSG00000160271	9842	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GNDS_HUMAN	RALGDS	HGNC	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN	.	UPI000012B8BC	SNV	RALGDS,synonymous_variant,p.%3D,ENST00000424572,;RALGDS,synonymous_variant,p.%3D,ENST00000393160,;RALGDS,synonymous_variant,p.%3D,ENST00000372047,;RALGDS,synonymous_variant,p.%3D,ENST00000372062,;RALGDS,synonymous_variant,p.%3D,ENST00000372050,;RALGDS,synonymous_variant,p.%3D,ENST00000393157,;RALGDS,synonymous_variant,p.%3D,ENST00000542690,;RALGDS,splice_region_variant,,ENST00000469972,;RALGDS,splice_region_variant,,ENST00000493438,;RALGDS,splice_region_variant,,ENST00000482648,;RALGDS,upstream_gene_variant,,ENST00000477660,;RALGDS,upstream_gene_variant,,ENST00000498797,;RALGDS,downstream_gene_variant,,ENST00000493067,;RALGDS,downstream_gene_variant,,ENST00000471109,;RALGDS,downstream_gene_variant,,ENST00000460587,;RALGDS,upstream_gene_variant,,ENST00000495621,;	2029	24	25	SUCCESS
SLC24A2	25769	.	GRCh37	9	19786279	19786279	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780575898	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	16	46	0	ENST00000341998.2:c.586G>T	p.Val196Leu	p.V196L	ENST00000341998	NM_001193288.2	196	Gta/Tta	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS6493.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATACCCCTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000344801	.	1/10	.	.	.	.	.	.	.	.	rs780575898	1/10	PASS	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,missense_variant,p.Val196Leu,ENST00000341998,;SLC24A2,missense_variant,p.Val196Leu,ENST00000286344,;	648	46	81	SUCCESS
IFNA2	3440	.	GRCh37	9	21385351	21385351	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs765482904	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	68	0	ENST00000380206.2:c.-23T>A		p.*8*	ENST00000380206	NM_000605.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTAGACTG	NONE	.	.	.	.	.	ENSP00000369554	.	1/1	.	.	.	.	.	.	.	.	rs765482904	1/1	PASS	ENST00000380206	Transcript	.	.	ENSG00000188379	5423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNA2_HUMAN	IFNA2	HGNC	Q6DJX8_HUMAN,Q16054_HUMAN	.	UPI0000034B3A	SNV	IFNA2,5_prime_UTR_variant,,ENST00000380206,;	46	68	58	SUCCESS
ANKRD18B	441459	.	GRCh37	9	33550549	33550549	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	62	230	0	ENST00000290943.6:c.2003A>T	p.Lys668Met	p.K668M	ENST00000290943	NM_001244752.1	668	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	.	2003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAAGAAGA	NONE	.	.	hmmpanther:PTHR24147:SF22,hmmpanther:PTHR24147	.	.	ENSP00000290943	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000290943	Transcript	.	.	ENSG00000230453	23644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	AN18B_HUMAN	ANKRD18B	HGNC	.	.	UPI0000EE047B	SNV	ANKRD18B,missense_variant,p.Lys49Met,ENST00000357927,;ANKRD18B,missense_variant,p.Lys668Met,ENST00000290943,;ANKRD18B,downstream_gene_variant,,ENST00000605687,;	2099	230	256	SUCCESS
UBAP2	55833	.	GRCh37	9	33927030	33927030	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	46	0	ENST00000360802.1:c.2420A>G	p.Asn807Ser	p.N807S	ENST00000360802	NM_018449.2	807	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6547.1	2420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGTTGTGC	NONE	.	.	hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17	.	.	ENSP00000368540	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,missense_variant,p.Asn807Ser,ENST00000379238,;UBAP2,missense_variant,p.Asn540Ser,ENST00000379239,;UBAP2,missense_variant,p.Asn46Ser,ENST00000379235,;UBAP2,missense_variant,p.Asn807Ser,ENST00000449054,;UBAP2,missense_variant,p.Asn562Ser,ENST00000539807,;UBAP2,missense_variant,p.Asn807Ser,ENST00000360802,;UBAP2,downstream_gene_variant,,ENST00000418786,;UBAP2,non_coding_transcript_exon_variant,,ENST00000474372,;UBAP2,3_prime_UTR_variant,,ENST00000488443,;	2538	46	36	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84532904	84532904	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	27	0	ENST00000527857.1:n.2926T>A		p.*976*	ENST00000527857				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GTCTCTAAGTC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	2926	27	37	SUCCESS
AGTPBP1	23287	.	GRCh37	9	88247600	88247600	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	79	0	ENST00000357081.3:c.1992A>T	p.Leu664Phe	p.L664F	ENST00000357081	NM_001286715.1	664	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6672.1	1872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTAAAAT	NONE	.	.	hmmpanther:PTHR12756:SF2,hmmpanther:PTHR12756	.	.	ENSP00000365251	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000376083	Transcript	.	.	ENSG00000135049	17258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0.02)	.	CBPC1_HUMAN	AGTPBP1	HGNC	.	.	UPI000013CF66	SNV	AGTPBP1,missense_variant,p.Leu664Phe,ENST00000357081,;AGTPBP1,missense_variant,p.Leu624Phe,ENST00000376083,;AGTPBP1,missense_variant,p.Leu676Phe,ENST00000376109,;AGTPBP1,missense_variant,p.Leu502Phe,ENST00000432218,;AGTPBP1,3_prime_UTR_variant,,ENST00000337006,;	1949	79	117	SUCCESS
ROR2	4920	.	GRCh37	9	94486744	94486744	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	58	0	ENST00000375708.3:c.2032T>A	p.Tyr678Asn	p.Y678N	ENST00000375708	NM_004560.3	678	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS6691.1	2032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTAGGACC	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000624,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000364860	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,missense_variant,p.Tyr538Asn,ENST00000375715,;ROR2,missense_variant,p.Tyr678Asn,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	2231	58	69	SUCCESS
ROR2	4920	.	GRCh37	9	94495465	94495465	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	78	0	ENST00000375708.3:c.876T>A	p.Pro292=	p.P292=	ENST00000375708	NM_004560.3	292	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6691.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCAGGCAT	NONE	.	.	Superfamily_domains:SSF57440,PIRSF_domain:PIRSF000624,Gene3D:2.40.20.10,Pfam_domain:PF01392,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50038	.	.	ENSP00000364860	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375715,;ROR2,synonymous_variant,p.%3D,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	1075	78	95	SUCCESS
CLCN4	1183	.	GRCh37	X	10166045	10166045	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	32	91	0	ENST00000380833.4:c.499G>C	p.Ala167Pro	p.A167P	ENST00000380833	NM_001830.3	167	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS14137.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGCTGTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11689:SF18,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340	.	.	ENSP00000370213	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000380833	Transcript	.	.	ENSG00000073464	2022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CLCN4_HUMAN	CLCN4	HGNC	Q75N13_HUMAN,B7Z5Z4_HUMAN	.	UPI0000127A99	SNV	CLCN4,missense_variant,p.Ala167Pro,ENST00000380833,;CLCN4,missense_variant,p.Ala73Pro,ENST00000421085,;CLCN4,missense_variant,p.Ala167Pro,ENST00000380829,;CLCN4,intron_variant,,ENST00000454850,;	890	91	133	SUCCESS
DCX	1641	.	GRCh37	X	110644314	110644314	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	27	106	0	ENST00000338081.3:c.852A>T	p.Thr284=	p.T284=	ENST00000338081	NM_000555.3	284	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14556.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGTCTT	NONE	.	.	PROSITE_profiles:PS50309,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF70,Gene3D:1mfwA00,Pfam_domain:PF03607,PIRSF_domain:PIRSF037870,SMART_domains:SM00537,Superfamily_domains:SSF89837	.	.	ENSP00000337697	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000338081	Transcript	.	.	ENSG00000077279	2714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCX_HUMAN	DCX	HGNC	E7EU50_HUMAN	.	UPI000013D33F	SNV	DCX,synonymous_variant,p.%3D,ENST00000371993,;DCX,synonymous_variant,p.%3D,ENST00000356220,;DCX,synonymous_variant,p.%3D,ENST00000338081,;DCX,synonymous_variant,p.%3D,ENST00000488120,;DCX,synonymous_variant,p.%3D,ENST00000358070,;DCX,synonymous_variant,p.%3D,ENST00000356915,;DCX,non_coding_transcript_exon_variant,,ENST00000496551,;	1024	106	129	SUCCESS
FRMPD4	9758	.	GRCh37	X	12735864	12735864	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	61	198	0	ENST00000380682.1:c.2919T>A	p.Ala973=	p.A973=	ENST00000380682	NM_014728.3	973	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS35201.1	2919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTAGGCC	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3	.	.	ENSP00000370057	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,synonymous_variant,p.%3D,ENST00000380682,;	3425	198	223	SUCCESS
ZNF75D	7626	.	GRCh37	X	134425482	134425482	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	42	123	0	ENST00000370766.3:c.612T>C	p.His204=	p.H204=	ENST00000370766	NM_007131.3	204	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS14648.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCATGCAC	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF43	.	.	ENSP00000359802	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000370766	Transcript	.	.	ENSG00000186376	13145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN75D_HUMAN	ZNF75D	HGNC	.	.	UPI000022DD3A	SNV	ZNF75D,synonymous_variant,p.%3D,ENST00000370766,;ZNF75D,intron_variant,,ENST00000370764,;ZNF75D,non_coding_transcript_exon_variant,,ENST00000469456,;ZNF75D,intron_variant,,ENST00000494295,;	3322	123	169	SUCCESS
SAGE1	55511	.	GRCh37	X	134990253	134990253	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	28	124	0	ENST00000324447.3:c.1165del	p.Thr389ProfsTer40	p.T389Pfs*40	ENST00000324447		389	Acc/cc	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS14652.1	1165	VARSCANI*|PINDEL	.	GATGCTACCATC	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	deletion	SAGE1,frameshift_variant,p.Thr389ProfsTer40,ENST00000370709,;SAGE1,frameshift_variant,p.Thr389ProfsTer40,ENST00000535938,;SAGE1,frameshift_variant,p.Thr389ProfsTer40,ENST00000324447,;SAGE1,intron_variant,,ENST00000537770,;	1332	124	186	SUCCESS
MAGEC3	139081	.	GRCh37	X	140926154	140926154	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	47	179	1	ENST00000298296.1:c.53T>A	p.Leu18Gln	p.L18Q	ENST00000298296	NM_138702.1	18	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS14676.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTAGGCC	NONE	.	.	.	.	.	ENSP00000298296	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious_low_confidence(0)	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,missense_variant,p.Leu18Gln,ENST00000298296,;	53	180	215	SUCCESS
PLXNB3	5365	.	GRCh37	X	153042749	153042749	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782575528	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	27	98	0	ENST00000361971.5:c.5014G>T	p.Val1672Leu	p.V1672L	ENST00000361971	NM_005393.2	1672	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS55536.1	5083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGTGCGG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Pfam_domain:PF08337	.	.	ENSP00000442736	.	31/37	.	.	.	.	.	.	.	.	rs782575528	31/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.43)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Val1695Leu,ENST00000538966,;PLXNB3,missense_variant,p.Val1325Leu,ENST00000538776,;PLXNB3,missense_variant,p.Val1672Leu,ENST00000361971,;SRPK3,5_prime_UTR_variant,,ENST00000489426,;PLXNB3,downstream_gene_variant,,ENST00000411613,;SRPK3,upstream_gene_variant,,ENST00000370108,;SRPK3,upstream_gene_variant,,ENST00000370100,;PLXNB3,downstream_gene_variant,,ENST00000455214,;PLXNB3,upstream_gene_variant,,ENST00000448847,;SRPK3,upstream_gene_variant,,ENST00000430541,;SRPK3,upstream_gene_variant,,ENST00000393786,;PLXNB3,downstream_gene_variant,,ENST00000538282,;SRPK3,upstream_gene_variant,,ENST00000370104,;SRPK3,upstream_gene_variant,,ENST00000370101,;PLXNB3,non_coding_transcript_exon_variant,,ENST00000485980,;PLXNB3,upstream_gene_variant,,ENST00000472415,;PLXNB3,upstream_gene_variant,,ENST00000469190,;PLXNB3,downstream_gene_variant,,ENST00000482654,;	5354	98	143	SUCCESS
CDKL5	6792	.	GRCh37	X	18606148	18606148	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	46	175	0	ENST00000379989.3:c.629T>C	p.Leu210Ser	p.L210S	ENST00000379989	NM_001037343.1	210	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS14186.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTTATTTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF111,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000369325	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious_low_confidence(0)	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	SNV	CDKL5,missense_variant,p.Leu210Ser,ENST00000379989,;CDKL5,missense_variant,p.Leu210Ser,ENST00000379996,;	914	175	209	SUCCESS
MAGEB3	4114	.	GRCh37	X	30254845	30254845	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	244	77	234	0	ENST00000361644.2:c.804T>A	p.Pro268=	p.P268=	ENST00000361644	NM_002365.4	268	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14220.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTGCACG	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF53,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000355198	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361644	Transcript	.	.	ENSG00000198798	6810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGB3_HUMAN	MAGEB3	HGNC	.	.	UPI000013E79F	SNV	MAGEB3,synonymous_variant,p.%3D,ENST00000361644,;	1541	234	321	SUCCESS
MIR548F5	100302239	.	GRCh37	X	32659594	32659594	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	67	175	0	ENST00000408421.1:n.83T>A		p.*28*	ENST00000408421				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14233.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTATTAGG	NONE	.	.	.	.	.	ENSP00000354923	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODIFIER	11/78	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000357033,;DMD,intron_variant,,ENST00000378677,;DMD,intron_variant,,ENST00000288447,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000447523,;MIR548F5,non_coding_transcript_exon_variant,,ENST00000408421,;DMD,intron_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	.	176	231	SUCCESS
CXorf30	0	.	GRCh37	X	36379611	36379611	+	synonymous_variant	Silent	SNP	A	A	T	rs781858468	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	467	122	502	0	ENST00000378657.4:c.1356A>T	p.Pro452=	p.P452=	ENST00000378657	NM_001098843.4	452	ccA/ccT	0	.	G:0	.	G:0	.	T	P	protein_coding	YES	CCDS55396.1	1356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCATTAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23053:SF7,hmmpanther:PTHR23053	G:0	.	ENSP00000367926	G:0	15/18	.	.	.	.	.	.	.	.	rs781858468	15/18	PASS	ENST00000378657	Transcript	.	G:0.0003	ENSG00000205081	27298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,synonymous_variant,p.%3D,ENST00000378657,;CXorf30,synonymous_variant,p.%3D,ENST00000378653,;RP11-87M18.2,downstream_gene_variant,,ENST00000455438,;CXorf30,non_coding_transcript_exon_variant,,ENST00000446478,;	2004	502	589	SUCCESS
PRRG1	5638	.	GRCh37	X	37285109	37285109	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	495	143	518	0	ENST00000378628.4:c.27A>G	p.Glu9=	p.E9=	ENST00000378628	NM_001142395.1	9	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS14239.1	27	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAAAAAGC	NONE	.	.	hmmpanther:PTHR24251,SMART_domains:SM00069	.	.	ENSP00000444278	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000542554	Transcript	.	.	ENSG00000130962	9469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMG1_HUMAN	PRRG1	HGNC	C9JNY5_HUMAN,C9J6P5_HUMAN	.	UPI0000137077	SNV	PRRG1,synonymous_variant,p.%3D,ENST00000463135,;PRRG1,synonymous_variant,p.%3D,ENST00000466533,;TM4SF2,synonymous_variant,p.%3D,ENST00000465127,;PRRG1,synonymous_variant,p.%3D,ENST00000543642,;PRRG1,synonymous_variant,p.%3D,ENST00000542554,;PRRG1,synonymous_variant,p.%3D,ENST00000449135,;PRRG1,synonymous_variant,p.%3D,ENST00000484460,;PRRG1,synonymous_variant,p.%3D,ENST00000378628,;PRRG1,intron_variant,,ENST00000491253,;PRRG1,non_coding_transcript_exon_variant,,ENST00000470290,;	299	518	638	SUCCESS
RPGR	6103	.	GRCh37	X	38145017	38145017	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	19	82	0	ENST00000339363.3:c.2520+1330A>T		p.*840*	ENST00000339363		1079		0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS35229.1	3235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTTTCAT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000367766	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000378505	Transcript	.	.	ENSG00000156313	10295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	RPGR_HUMAN	RPGR	HGNC	.	.	UPI00005D3C95	SNV	RPGR,missense_variant,p.Arg1079Trp,ENST00000378505,;RPGR,intron_variant,,ENST00000318842,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,intron_variant,,ENST00000339363,;RPGR,intron_variant,,ENST00000342811,;RPGR,intron_variant,,ENST00000309513,;RPGR,intron_variant,,ENST00000338898,;RPGR,intron_variant,,ENST00000494707,;RPGR,intron_variant,,ENST00000474584,;RPGR,intron_variant,,ENST00000482855,;	3412	82	108	SUCCESS
MAOB	4129	.	GRCh37	X	43656381	43656381	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	63	0	ENST00000378069.4:c.609T>A	p.Asn203Lys	p.N203K	ENST00000378069	NM_000898.4	203	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS14261.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCATTTGT	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Superfamily_domains:SSF51905,Prints_domain:PR00757	.	.	ENSP00000367309	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	deleterious(0.04)	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,missense_variant,p.Asn187Lys,ENST00000538942,;MAOB,missense_variant,p.Asn187Lys,ENST00000536181,;MAOB,missense_variant,p.Asn203Lys,ENST00000378069,;MAOB,downstream_gene_variant,,ENST00000487544,;	757	63	82	SUCCESS
SSX1	6756	.	GRCh37	X	48123234	48123234	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	378	104	421	0	ENST00000376919.3:c.348A>T	p.Pro116=	p.P116=	ENST00000376919	NM_005635.3	116	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14290.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCAGCAGA	NONE	.	.	hmmpanther:PTHR14112:SF8,hmmpanther:PTHR14112	.	.	ENSP00000366118	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000376919	Transcript	.	.	ENSG00000126752	11335	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSX1_HUMAN	SSX1	HGNC	.	.	UPI0000136052	SNV	SSX1,synonymous_variant,p.%3D,ENST00000376919,;	484	421	482	SUCCESS
SLC35A2	7355	.	GRCh37	X	48761808	48761808	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	41	154	0	ENST00000247138.5:c.1163+215T>A		p.*388*	ENST00000247138	NM_005660.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14311.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCACCCTA	NONE	.	.	.	.	.	ENSP00000247138	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000247138	Transcript	.	.	ENSG00000102100	11022	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35A2_HUMAN	SLC35A2	HGNC	C9JCV5_HUMAN	.	UPI0000137AEA	SNV	SLC35A2,3_prime_UTR_variant,,ENST00000413561,;SLC35A2,3_prime_UTR_variant,,ENST00000452555,;SLC35A2,3_prime_UTR_variant,,ENST00000376515,;SLC35A2,3_prime_UTR_variant,,ENST00000445167,;SLC35A2,3_prime_UTR_variant,,ENST00000376521,;SLC35A2,intron_variant,,ENST00000376529,;SLC35A2,intron_variant,,ENST00000247138,;PQBP1,downstream_gene_variant,,ENST00000218224,;SLC35A2,downstream_gene_variant,,ENST00000446885,;PQBP1,downstream_gene_variant,,ENST00000396763,;PQBP1,downstream_gene_variant,,ENST00000376548,;SLC35A2,downstream_gene_variant,,ENST00000376512,;PQBP1,downstream_gene_variant,,ENST00000376563,;PQBP1,downstream_gene_variant,,ENST00000456306,;PQBP1,downstream_gene_variant,,ENST00000247140,;PQBP1,downstream_gene_variant,,ENST00000376566,;PQBP1,downstream_gene_variant,,ENST00000443648,;PQBP1,downstream_gene_variant,,ENST00000447146,;PQBP1,downstream_gene_variant,,ENST00000474671,;PQBP1,downstream_gene_variant,,ENST00000470062,;PQBP1,downstream_gene_variant,,ENST00000463529,;PQBP1,downstream_gene_variant,,ENST00000473764,;PQBP1,downstream_gene_variant,,ENST00000472742,;PQBP1,downstream_gene_variant,,ENST00000470059,;PQBP1,downstream_gene_variant,,ENST00000465859,;PQBP1,downstream_gene_variant,,ENST00000486150,;PQBP1,downstream_gene_variant,,ENST00000477997,;	.	154	177	SUCCESS
CACNA1F	778	.	GRCh37	X	49067844	49067844	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	289	81	326	1	ENST00000376265.2:c.4231A>T	p.Thr1411Ser	p.T1411S	ENST00000376265	NM_005183.2	1411	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS35253.1	4231	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTAAACT	NONE	.	.	hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000365441	.	36/48	.	.	.	.	.	.	.	.	.	36/48	PASS	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.293)	.	tolerated(0.26)	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,missense_variant,p.Thr1346Ser,ENST00000376251,;CACNA1F,missense_variant,p.Thr1411Ser,ENST00000376265,;CACNA1F,missense_variant,p.Thr1400Ser,ENST00000323022,;CACNA1F,upstream_gene_variant,,ENST00000486943,;CACNA1F,upstream_gene_variant,,ENST00000481035,;	4293	327	371	SUCCESS
HUWE1	10075	.	GRCh37	X	53619443	53619443	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1556980171	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	62	0	ENST00000262854.6:c.3887A>T	p.Glu1296Val	p.E1296V	ENST00000262854	NM_031407.5	1296	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS35301.1	3887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTCCTTC	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	32/83	.	.	.	.	.	.	.	.	.	32/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Glu1296Val,ENST00000218328,;HUWE1,missense_variant,p.Glu1296Val,ENST00000342160,;HUWE1,missense_variant,p.Glu1296Val,ENST00000262854,;HUWE1,missense_variant,p.Glu330Val,ENST00000427052,;	4345	62	58	SUCCESS
TRO	7216	.	GRCh37	X	54956640	54956640	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	96	0	ENST00000173898.7:c.3483T>C	p.Ser1161=	p.S1161=	ENST00000173898	NM_001039705.2	1161	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43959.1	3483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGTGCATC	NONE	.	.	.	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,synonymous_variant,p.%3D,ENST00000375041,;TRO,synonymous_variant,p.%3D,ENST00000420798,;TRO,synonymous_variant,p.%3D,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000545676,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	3595	96	91	SUCCESS
TEX11	56159	.	GRCh37	X	69749740	69749740	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	16	70	0	ENST00000344304.3:c.2675T>G	p.Leu892Arg	p.L892R	ENST00000344304		892	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS35323.1	2675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGGCCA	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904	.	.	ENSP00000379226	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,missense_variant,p.Leu567Arg,ENST00000374320,;TEX11,missense_variant,p.Leu877Arg,ENST00000374333,;TEX11,missense_variant,p.Leu892Arg,ENST00000395889,;TEX11,missense_variant,p.Leu892Arg,ENST00000344304,;	2831	70	83	SUCCESS
TEX11	56159	.	GRCh37	X	69964041	69964041	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	463	106	413	0	ENST00000344304.3:c.766A>G	p.Lys256Glu	p.K256E	ENST00000344304		256	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS35323.1	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTATCCA	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631	.	.	ENSP00000379226	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.47)	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,missense_variant,p.Lys241Glu,ENST00000374333,;TEX11,missense_variant,p.Lys256Glu,ENST00000395889,;TEX11,missense_variant,p.Lys256Glu,ENST00000344304,;	922	413	570	SUCCESS
IL2RG	3561	.	GRCh37	X	70330769	70330769	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	38	134	0	ENST00000374202.2:c.247A>T	p.Thr83Ser	p.T83S	ENST00000374202	NM_000206.2	83	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS14406.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTAGGCT	NONE	.	.	hmmpanther:PTHR23036:SF92,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,Superfamily_domains:SSF49265	.	.	ENSP00000363318	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000374202	Transcript	.	.	ENSG00000147168	6010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.12)	.	IL2RG_HUMAN	IL2RG	HGNC	Q6LER1_HUMAN,D6RDW9_HUMAN	.	UPI0000000DEA	SNV	IL2RG,missense_variant,p.Thr39Ser,ENST00000464642,;IL2RG,missense_variant,p.Thr62Ser,ENST00000473378,;IL2RG,missense_variant,p.Thr71Ser,ENST00000487883,;IL2RG,missense_variant,p.Thr83Ser,ENST00000374202,;IL2RG,intron_variant,,ENST00000456850,;CXorf65,upstream_gene_variant,,ENST00000374251,;IL2RG,upstream_gene_variant,,ENST00000374188,;IL2RG,upstream_gene_variant,,ENST00000482750,;IL2RG,non_coding_transcript_exon_variant,,ENST00000512747,;IL2RG,non_coding_transcript_exon_variant,,ENST00000276110,;CXorf65,upstream_gene_variant,,ENST00000483257,;CXorf65,upstream_gene_variant,,ENST00000438526,;	339	134	160	SUCCESS
CXCR3	2833	.	GRCh37	X	70836820	70836820	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1349979497	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	56	224	0	ENST00000373693.3:c.502G>A	p.Val168Met	p.V168M	ENST00000373693	NM_001504.1	168	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS48135.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACGCGGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF27,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000362795	.	2/2	.	.	.	.	.	.	.	.	COSM1124992,COSM1599724	2/2	PASS	ENST00000373691	Transcript	.	.	ENSG00000186810	4540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.705)	.	tolerated(0.09)	1,1	CXCR3_HUMAN	CXCR3	HGNC	.	.	UPI00001A92CE	SNV	CXCR3,missense_variant,p.Val168Met,ENST00000373693,;CXCR3,missense_variant,p.Val215Met,ENST00000373691,;ACRC,downstream_gene_variant,,ENST00000373695,;ACRC,downstream_gene_variant,,ENST00000373696,;ACRC,downstream_gene_variant,,ENST00000471950,;	807	224	225	SUCCESS
FAM46D	0	.	GRCh37	X	79698650	79698650	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	68	231	0	ENST00000538312.1:c.612T>G	p.Ala204=	p.A204=	ENST00000538312	NM_001170574.1	204	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS14446.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCTGAAAG	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,synonymous_variant,p.%3D,ENST00000308293,;FAM46D,synonymous_variant,p.%3D,ENST00000538312,;	946	232	281	SUCCESS
FAM9A	171482	.	GRCh37	X	8764335	8764335	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	54	183	0	ENST00000381003.3:c.462T>A	p.Arg154=	p.R154=	ENST00000381003	NM_174951.3	154	cgT/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS14131.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCACGTTC	NONE	.	.	hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF2	.	.	ENSP00000440163	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000543214	Transcript	.	.	ENSG00000183304	18403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAM9A_HUMAN	FAM9A	HGNC	.	.	UPI000012A418	SNV	FAM9A,synonymous_variant,p.%3D,ENST00000543214,;FAM9A,synonymous_variant,p.%3D,ENST00000381003,;	598	184	221	SUCCESS
PCDH11X	27328	.	GRCh37	X	91132904	91132904	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	231	83	261	0	ENST00000373094.1:c.1665A>T	p.Thr555=	p.T555=	ENST00000373094	NM_032968.3	555	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS14461.1	1665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACAGTCTT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,synonymous_variant,p.%3D,ENST00000373088,;PCDH11X,synonymous_variant,p.%3D,ENST00000361724,;PCDH11X,synonymous_variant,p.%3D,ENST00000395337,;PCDH11X,synonymous_variant,p.%3D,ENST00000298274,;PCDH11X,synonymous_variant,p.%3D,ENST00000504220,;PCDH11X,synonymous_variant,p.%3D,ENST00000406881,;PCDH11X,synonymous_variant,p.%3D,ENST00000373094,;PCDH11X,synonymous_variant,p.%3D,ENST00000373097,;PCDH11X,synonymous_variant,p.%3D,ENST00000361655,;	2510	261	314	SUCCESS
MKI67	4288	.	GRCh37	10	129901847	129901847	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	99	0	ENST00000368654.3:c.8257G>C	p.Asp2753His	p.D2753H	ENST00000368654	NM_002417.4	2753	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS7659.1	8257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTCTGCAT	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.37)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Asp2753His,ENST00000368654,;MKI67,missense_variant,p.Asp2393His,ENST00000368653,;MKI67,upstream_gene_variant,,ENST00000464771,;	8633	99	51	SUCCESS
MRC1L1	0	.	GRCh37	10	17905633	17905633	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	81	397	1	ENST00000331429.2:c.1724C>T	p.Thr575Ile	p.T575I	ENST00000331429		575	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	.	1724	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACTTTTC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF55,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000332124	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000331429	Transcript	.	.	ENSG00000183748	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.275)	.	.	.	.	MRC1L1	Clone_based_vega_gene	B4DLK9_HUMAN	.	UPI00001AFE88	SNV	MRC1L1,missense_variant,p.Thr575Ile,ENST00000331429,;	1827	398	429	SUCCESS
USP54	159195	.	GRCh37	10	75276875	75276875	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	73	0	ENST00000339859.4:c.3309A>C	p.Lys1103Asn	p.K1103N	ENST00000339859		1103	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS7329.2	3309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTTTTGAG	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5	.	.	ENSP00000345216	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000339859	Transcript	.	.	ENSG00000166348	23513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.147)	.	deleterious_low_confidence(0)	.	UBP54_HUMAN	USP54	HGNC	.	.	UPI0000DFF136	SNV	USP54,missense_variant,p.Lys953Asn,ENST00000428547,;USP54,missense_variant,p.Lys1103Asn,ENST00000339859,;USP54,missense_variant,p.Lys1103Asn,ENST00000408019,;USP54,missense_variant,p.Lys285Asn,ENST00000422491,;USP54,missense_variant,p.Lys191Asn,ENST00000394811,;RP11-137L10.6,intron_variant,,ENST00000600206,;RP11-137L10.6,intron_variant,,ENST00000597958,;RP11-137L10.6,intron_variant,,ENST00000595069,;RP11-137L10.6,intron_variant,,ENST00000593790,;RP11-137L10.6,downstream_gene_variant,,ENST00000600607,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,3_prime_UTR_variant,,ENST00000418501,;USP54,3_prime_UTR_variant,,ENST00000466048,;USP54,3_prime_UTR_variant,,ENST00000424265,;USP54,downstream_gene_variant,,ENST00000498143,;	3410	73	105	SUCCESS
SEC24C	9632	.	GRCh37	10	75519919	75519919	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	73	0	ENST00000339365.2:c.625C>T	p.Gln209Ter	p.Q209*	ENST00000339365	NM_004922.3	209	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS7332.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACAGGCC	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5	.	.	ENSP00000343405	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000339365	Transcript	.	.	ENSG00000176986	10705	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC24C_HUMAN	SEC24C	HGNC	B4DZT4_HUMAN	.	UPI000013F621	SNV	SEC24C,stop_gained,p.Gln209Ter,ENST00000345254,;SEC24C,stop_gained,p.Gln67Ter,ENST00000546025,;SEC24C,stop_gained,p.Gln67Ter,ENST00000411652,;SEC24C,stop_gained,p.Gln209Ter,ENST00000339365,;SEC24C,intron_variant,,ENST00000540668,;SEC24C,intron_variant,,ENST00000535742,;SEC24C,stop_gained,p.Gln209Ter,ENST00000465076,;	787	73	95	SUCCESS
CADM1	23705	.	GRCh37	11	115047195	115047195	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	108	0	ENST00000452722.3:c.1328A>T	p.Ter443LeuextTer15	p.*443Lext*15	ENST00000452722	NM_014333.3	443	tAg/tTg	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS8373.1	1328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCTAGATG	NONE	.	.	.	.	.	ENSP00000395359	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000452722	Transcript	.	.	ENSG00000182985	5951	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADM1_HUMAN	CADM1	HGNC	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN	.	UPI0000049C25	SNV	CADM1,stop_lost,p.Ter443LeuextTer15,ENST00000452722,;CADM1,stop_lost,p.Ter472LeuextTer15,ENST00000331581,;CADM1,stop_lost,p.Ter444LeuextTer15,ENST00000536727,;CADM1,stop_lost,p.Ter414LeuextTer15,ENST00000545380,;CADM1,stop_lost,p.Ter415LeuextTer15,ENST00000542447,;CADM1,stop_lost,p.Ter454LeuextTer15,ENST00000537058,;CADM1,non_coding_transcript_exon_variant,,ENST00000543375,;CADM1,intron_variant,,ENST00000545960,;CADM1,intron_variant,,ENST00000537140,;CADM1,non_coding_transcript_exon_variant,,ENST00000546000,;CADM1,non_coding_transcript_exon_variant,,ENST00000540852,;	1349	108	101	SUCCESS
DSCAML1	57453	.	GRCh37	11	117375644	117375644	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147991561	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	65	0	ENST00000321322.6:c.2357C>T	p.Ala786Val	p.A786V	ENST00000321322	NM_020693.2	786	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8384.1	2357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	CCTTGGCATGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	10/33	.	.	.	.	.	.	.	.	rs147991561,COSM107290	10/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	possibly_damaging(0.708)	.	deleterious(0)	1,1	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Ala516Val,ENST00000527706,;DSCAML1,missense_variant,p.Ala786Val,ENST00000321322,;	2359	65	57	SUCCESS
OR9G4	283189	.	GRCh37	11	56510313	56510313	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	83	0	ENST00000302957.3:c.975A>G	p.Pro325=	p.P325=	ENST00000302957	NM_001005284.1	325	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS31537.1	975	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTTTGTGGTTG	NONE	.	.	.	.	.	ENSP00000307515	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302957	Transcript	.	.	ENSG00000172457	15322	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR9G4_HUMAN	OR9G4	HGNC	.	.	UPI00001D77DB	SNV	OR9G4,synonymous_variant,p.%3D,ENST00000302957,;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;	975	83	71	SUCCESS
C11orf48	0	.	GRCh37	11	62437490	62437494	+	frameshift_variant	Frame_Shift_Del	DEL	GGCAC	GGCAC	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	GGCAC	GGCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	69	0	ENST00000431002.2:c.10_14delinsA	p.Val4LysfsTer90	p.V4Kfs*90	ENST00000431002		4	GTGCCa/Aa	0	.	.	.	.	.	T	VP/X	protein_coding	YES	CCDS8028.1	10-14	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CTCCCTGGCACAAGGG	NONE	.	.	Pfam_domain:PF15317	.	.	ENSP00000436848	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000532208	Transcript	.	.	ENSG00000162194	28351	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK048_HUMAN	C11orf48	HGNC	E9PL64_HUMAN	.	UPI00003520AA	substitution	C11orf48,frameshift_variant,p.Val4LysfsTer64,ENST00000354588,;C11orf48,frameshift_variant,p.Val4LysfsTer64,ENST00000532208,;C11orf48,frameshift_variant,p.Val4LysfsTer64,ENST00000526490,;C11orf48,frameshift_variant,p.Val4LysfsTer90,ENST00000431002,;C11orf48,splice_region_variant,,ENST00000415855,;C11orf48,splice_region_variant,,ENST00000377954,;C11orf48,intron_variant,,ENST00000528862,;C11orf48,upstream_gene_variant,,ENST00000528115,;C11orf48,upstream_gene_variant,,ENST00000525675,;C11orf48,upstream_gene_variant,,ENST00000524958,;RP11-831H9.11,upstream_gene_variant,,ENST00000528405,;C11orf83,upstream_gene_variant,,ENST00000531323,;C11orf83,upstream_gene_variant,,ENST00000377953,;METTL12,downstream_gene_variant,,ENST00000532971,;SNORA57,downstream_gene_variant,,ENST00000383870,;METTL12,downstream_gene_variant,,ENST00000398922,;METTL12,downstream_gene_variant,,ENST00000594728,;C11orf48,non_coding_transcript_exon_variant,,ENST00000527679,;C11orf48,intron_variant,,ENST00000524759,;C11orf48,upstream_gene_variant,,ENST00000532786,;METTL12,downstream_gene_variant,,ENST00000529868,;	445-449	69	60	SUCCESS
GDPD5	81544	.	GRCh37	11	75146556	75146556	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs551593132	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	43	0	ENST00000336898.3:c.1814G>A	p.Arg605His	p.R605H	ENST00000336898	NM_030792.6	605	cGt/cAt	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS8238.1	1814	RADIA|MUTECT|MUSE|VARSCANS	.	GCTAACGCCCA	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000337972	T:0	17/17	.	.	.	.	.	.	.	.	rs551593132,COSM3670895	17/17	PASS	ENST00000336898	Transcript	.	T:0.0008	ENSG00000158555	28804	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.984)	T:0.0041	deleterious_low_confidence(0)	0,1	GDPD5_HUMAN	GDPD5	HGNC	E9PJU5_HUMAN	.	UPI000013FB97	SNV	GDPD5,missense_variant,p.Arg605His,ENST00000336898,;GDPD5,missense_variant,p.Arg360His,ENST00000533805,;GDPD5,missense_variant,p.Arg467His,ENST00000526177,;GDPD5,missense_variant,p.Arg486His,ENST00000533784,;GDPD5,missense_variant,p.Arg486His,ENST00000376282,;GDPD5,missense_variant,p.Arg605His,ENST00000529721,;GDPD5,3_prime_UTR_variant,,ENST00000443276,;KLHL35,upstream_gene_variant,,ENST00000539798,;GDPD5,downstream_gene_variant,,ENST00000534322,;GDPD5,3_prime_UTR_variant,,ENST00000527820,;GDPD5,non_coding_transcript_exon_variant,,ENST00000531759,;	2652	43	30	SUCCESS
FAM71C	196472	.	GRCh37	12	100041989	100041989	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	96	0	ENST00000324341.1:c.37C>T	p.Gln13Ter	p.Q13*	ENST00000324341	NM_153364.3	13	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS9072.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCAAAGC	NONE	.	.	hmmpanther:PTHR22574:SF11,hmmpanther:PTHR22574	.	.	ENSP00000315247	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000324341	Transcript	.	.	ENSG00000180219	28594	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA71C_HUMAN	FAM71C	HGNC	.	.	UPI0000073857	SNV	FAM71C,stop_gained,p.Gln13Ter,ENST00000324341,;ANKS1B,intron_variant,,ENST00000329257,;ANKS1B,intron_variant,,ENST00000549866,;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,intron_variant,,ENST00000547776,;ANKS1B,intron_variant,,ENST00000552232,;	459	96	91	SUCCESS
DHX37	57647	.	GRCh37	12	125451681	125451681	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	50	0	ENST00000308736.2:c.1492G>T	p.Ala498Ser	p.A498S	ENST00000308736	NM_032656.3	498	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9261.1	1492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCTCTGG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Gene3D:3.40.50.300	.	.	ENSP00000311135	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.84)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Ala498Ser,ENST00000308736,;DHX37,missense_variant,p.Ala285Ser,ENST00000544745,;DHX37,upstream_gene_variant,,ENST00000543962,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	1591	50	60	SUCCESS
ITGB7	3695	.	GRCh37	12	53590523	53590523	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748193418	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	52	282	0	ENST00000267082.5:c.656G>A	p.Arg219Gln	p.R219Q	ENST00000267082	NM_000889.1	219	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8849.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCGGGTG	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF36,Pfam_domain:PF00362,Gene3D:3.40.50.410,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF53300	.	.	ENSP00000267082	.	6/16	.	.	.	.	.	.	.	.	rs748193418,COSM3398841	6/16	PASS	ENST00000267082	Transcript	.	.	ENSG00000139626	6162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0.03)	0,1	ITB7_HUMAN	ITGB7	HGNC	H3BRM2_HUMAN,F8W186_HUMAN,F8VNX4_HUMAN,B7Z506_HUMAN	.	UPI0000000DF7	SNV	ITGB7,missense_variant,p.Arg219Gln,ENST00000267082,;ITGB7,missense_variant,p.Arg219Gln,ENST00000422257,;ITGB7,missense_variant,p.Arg219Gln,ENST00000338737,;ITGB7,missense_variant,p.Arg219Gln,ENST00000550743,;ITGB7,downstream_gene_variant,,ENST00000552935,;ITGB7,downstream_gene_variant,,ENST00000549086,;ITGB7,upstream_gene_variant,,ENST00000551319,;ITGB7,downstream_gene_variant,,ENST00000552972,;ITGB7,missense_variant,p.Arg219Gln,ENST00000542497,;ITGB7,non_coding_transcript_exon_variant,,ENST00000551887,;ITGB7,non_coding_transcript_exon_variant,,ENST00000589179,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549196,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549462,;ITGB7,upstream_gene_variant,,ENST00000548269,;ITGB7,upstream_gene_variant,,ENST00000548706,;	888	282	214	SUCCESS
BAZ2A	11176	.	GRCh37	12	56999067	56999067	+	synonymous_variant	Silent	SNP	A	A	G	rs1350324952	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	49	242	1	ENST00000551812.1:c.2544T>C	p.Ser848=	p.S848=	ENST00000551812	NM_013449.3	848	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS44924.1	2544	RADIA|MUTECT|MUSE	.	GCTCCACTGGG	NONE	.	.	PROSITE_profiles:PS50827,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141,SMART_domains:SM00571	.	.	ENSP00000446880	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,synonymous_variant,p.%3D,ENST00000379441,;BAZ2A,synonymous_variant,p.%3D,ENST00000179765,;BAZ2A,synonymous_variant,p.%3D,ENST00000551812,;BAZ2A,synonymous_variant,p.%3D,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000551996,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000549763,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000551759,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000548578,;	2738	243	213	SUCCESS
BAZ2A	11176	.	GRCh37	12	56999078	56999078	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs368133451	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	34	226	1	ENST00000551812.1:c.2533A>C	p.Thr845Pro	p.T845P	ENST00000551812	NM_013449.3	845	Aca/Cca	0	A:0.0003	.	.	.	.	G	T/P	protein_coding	YES	CCDS44924.1	2533	RADIA|MUTECT	.	CAATGTCAGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141	.	A:0	ENSP00000446880	.	14/29	.	.	.	.	.	.	.	.	rs368133451	14/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.115)	.	deleterious(0.01)	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,missense_variant,p.Thr815Pro,ENST00000379441,;BAZ2A,missense_variant,p.Thr813Pro,ENST00000179765,;BAZ2A,missense_variant,p.Thr845Pro,ENST00000551812,;BAZ2A,missense_variant,p.Thr843Pro,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000551996,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000549763,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000551759,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000548578,;	2727	227	186	SUCCESS
BAZ2A	11176	.	GRCh37	12	56999094	56999094	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	28	201	1	ENST00000551812.1:c.2517A>C	p.Ser839=	p.S839=	ENST00000551812	NM_013449.3	839	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS44924.1	2517	RADIA|MUTECT	.	ACTCGTGAGAA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141	.	.	ENSP00000446880	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,synonymous_variant,p.%3D,ENST00000379441,;BAZ2A,synonymous_variant,p.%3D,ENST00000179765,;BAZ2A,synonymous_variant,p.%3D,ENST00000551812,;BAZ2A,synonymous_variant,p.%3D,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000551996,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000549763,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000551759,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000548578,;	2711	202	168	SUCCESS
LRP1	4035	.	GRCh37	12	57586981	57586981	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	57	0	ENST00000243077.3:c.7578A>G	p.Ala2526=	p.A2526=	ENST00000243077	NM_002332.2	2526	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8932.1	7578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCACAAGA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.10.25.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	46/89	.	.	.	.	.	.	.	.	.	46/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,synonymous_variant,p.%3D,ENST00000243077,;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,upstream_gene_variant,,ENST00000408438,;	8044	57	60	SUCCESS
FSCB	84075	.	GRCh37	14	44975143	44975143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	31	128	0	ENST00000340446.4:c.1048A>G	p.Ile350Val	p.I350V	ENST00000340446	NM_032135.3	350	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9679.1	1048	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATTTCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.9)	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,missense_variant,p.Ile350Val,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	1340	128	112	SUCCESS
MLH3	27030	.	GRCh37	14	75485660	75485678	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCATCATTAAACTTAAT	GGCCATCATTAAACTTAAT	-	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	GGCCATCATTAAACTTAAT	GGCCATCATTAAACTTAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	79	0	ENST00000355774.2:c.4096_4114del	p.Ile1366Ter	p.I1366*	ENST00000355774	NM_001040108.1	1366	ATTAAGTTTAATGATGGCCtg/tg	0	.	.	.	.	.	-	IKFNDGL/X	protein_coding	YES	CCDS32123.1	4096-4114	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTCAGGCCATCATTAAACTTAATGGCCC	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7,Pfam_domain:PF08676,SMART_domains:SM00853,Superfamily_domains:0050888	.	.	ENSP00000348020	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	deletion	MLH3,frameshift_variant,p.Ile1188Ter,ENST00000556257,;MLH3,frameshift_variant,p.Ile390Ter,ENST00000553713,;MLH3,frameshift_variant,p.Ile304Ter,ENST00000380968,;MLH3,frameshift_variant,p.Ile1342Ter,ENST00000238662,;MLH3,frameshift_variant,p.Ile1366Ter,ENST00000556740,;MLH3,frameshift_variant,p.Ile1366Ter,ENST00000355774,;MLH3,downstream_gene_variant,,ENST00000544985,;RNU6-689P,upstream_gene_variant,,ENST00000384197,;MLH3,frameshift_variant,p.Ile37Ter,ENST00000554697,;MLH3,non_coding_transcript_exon_variant,,ENST00000555415,;MLH3,downstream_gene_variant,,ENST00000555144,;MLH3,downstream_gene_variant,,ENST00000556453,;	4312-4330	79	82	SUCCESS
HERC2	8924	.	GRCh37	15	28447357	28447357	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776657606	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	61	253	0	ENST00000261609.7:c.7519G>A	p.Asp2507Asn	p.D2507N	ENST00000261609	NM_004667.5	2507	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10021.1	7519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTCGGAGT	NONE	byFrequency	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	47/93	.	.	.	.	.	.	.	.	rs776657606	47/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Asp2507Asn,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	7628	253	216	SUCCESS
HERC2	8924	.	GRCh37	15	28501325	28501325	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759873703	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	25	0	ENST00000261609.7:c.2656G>T	p.Ala886Ser	p.A886S	ENST00000261609	NM_004667.5	886	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10021.1	2656	SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGGCCG	NONE	byFrequency	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	18/93	.	.	.	.	.	.	.	.	rs759873703,COSM960260	18/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.954)	.	.	0,1	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Ala886Ser,ENST00000261609,;HERC2,3_prime_UTR_variant,,ENST00000564734,;	2765	25	27	SUCCESS
PDILT	204474	.	GRCh37	16	20373766	20373766	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139805278	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	103	0	ENST00000302451.4:c.1376G>A	p.Arg459Gln	p.R459Q	ENST00000302451	NM_174924.1	459	cGg/cAg	0	T:0.0039	T:0.0023	.	T:0.0029	.	T	R/Q	protein_coding	YES	CCDS10584.1	1376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACCGGTCC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	T:0	T:0	ENSP00000305465	T:0	10/12	.	.	.	.	.	.	.	.	rs139805278,COSM968038	10/12	PASS	ENST00000302451	Transcript	.	T:0.0010	ENSG00000169340	27338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.041)	T:0	tolerated(0.13)	0,1	PDILT_HUMAN	PDILT	HGNC	.	.	UPI000000DAC6	SNV	PDILT,missense_variant,p.Arg459Gln,ENST00000302451,;	1625	103	84	SUCCESS
ARMC5	79798	.	GRCh37	16	31477741	31477741	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1338163719	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	40	0	ENST00000268314.4:c.2339G>T	p.Gly780Val	p.G780V	ENST00000268314	NM_001105247.1	780	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS45472.1	2339	MUTECT|MUSE	.	GTCAGGCAGCT	NONE	.	.	Gene3D:3.30.710.10,hmmpanther:PTHR23312,PROSITE_profiles:PS50097	.	.	ENSP00000268314	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000268314	Transcript	.	.	ENSG00000140691	25781	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARMC5_HUMAN	ARMC5	HGNC	.	.	UPI0000F6E6C0	SNV	ARMC5,missense_variant,p.Gly812Val,ENST00000538189,;ARMC5,missense_variant,p.Gly780Val,ENST00000268314,;ARMC5,missense_variant,p.Gly443Val,ENST00000564900,;ARMC5,missense_variant,p.Gly780Val,ENST00000563544,;ARMC5,missense_variant,p.Gly875Val,ENST00000408912,;ARMC5,missense_variant,p.Gly424Val,ENST00000412665,;ARMC5,3_prime_UTR_variant,,ENST00000457010,;ARMC5,downstream_gene_variant,,ENST00000564514,;ARMC5,downstream_gene_variant,,ENST00000570119,;	2868	40	38	SUCCESS
CDH1	999	.	GRCh37	16	68771270	68771270	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs564350060	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	42	0	ENST00000261769.5:c.-49G>A		p.*17*	ENST00000261769	NM_004360.3			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS10869.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCCGACCCG	NONE	by1000G	.	.	T:0.001	.	ENSP00000261769	T:0	1/16	.	.	.	.	.	.	.	.	rs564350060	1/16	PASS	ENST00000261769	Transcript	.	T:0.0002	ENSG00000039068	1748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,5_prime_UTR_variant,,ENST00000422392,;CDH1,5_prime_UTR_variant,,ENST00000261769,;CDH1,5_prime_UTR_variant,,ENST00000566612,;CDH1,5_prime_UTR_variant,,ENST00000566510,;	143	42	26	SUCCESS
FBXW10	10517	.	GRCh37	17	18654340	18654340	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	91	0	ENST00000395665.4:c.1096C>A	p.His366Asn	p.H366N	ENST00000395665		366	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS11199.3	1096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAACATCCG	NONE	.	.	hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872,Superfamily_domains:SSF81383	.	.	ENSP00000379025	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000395665	Transcript	.	.	ENSG00000171931	1211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	FBW10_HUMAN	FBXW10	HGNC	.	.	UPI0000200B30	SNV	FBXW10,missense_variant,p.His366Asn,ENST00000301938,;FBXW10,missense_variant,p.His395Asn,ENST00000308799,;FBXW10,missense_variant,p.His366Asn,ENST00000395667,;FBXW10,missense_variant,p.His366Asn,ENST00000395665,;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	1317	91	55	SUCCESS
USP22	23326	.	GRCh37	17	20919117	20919117	+	synonymous_variant	Silent	SNP	G	G	A	rs747593114	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	96	0	ENST00000261497.4:c.786C>T	p.Asp262=	p.D262=	ENST00000261497	NM_015276.1	262	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS42285.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGTCCTG	NONE	byFrequency	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000261497	.	6/13	.	.	.	.	.	.	.	.	rs747593114	6/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,synonymous_variant,p.%3D,ENST00000261497,;USP22,synonymous_variant,p.%3D,ENST00000537526,;USP22,intron_variant,,ENST00000582335,;USP22,downstream_gene_variant,,ENST00000476111,;USP22,downstream_gene_variant,,ENST00000584538,;USP22,non_coding_transcript_exon_variant,,ENST00000577610,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;USP22,upstream_gene_variant,,ENST00000478443,;	990	96	54	SUCCESS
DHRS7B	25979	.	GRCh37	17	21075458	21075458	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs115639276	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	138	0	ENST00000395511.3:c.148C>G	p.Leu50Val	p.L50V	ENST00000395511	NM_015510.4	50	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11215.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACCTGCGG	NONE	by1000G	.	hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF325,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735	.	.	ENSP00000378887	.	2/7	.	.	.	.	.	.	.	.	rs115639276	2/7	PASS	ENST00000395511	Transcript	.	.	ENSG00000109016	24547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.08)	.	DRS7B_HUMAN	DHRS7B	HGNC	J3QKT1_HUMAN	.	UPI00000739CB	SNV	DHRS7B,missense_variant,p.Leu35Val,ENST00000579303,;DHRS7B,missense_variant,p.Leu50Val,ENST00000395511,;DHRS7B,missense_variant,p.Leu50Val,ENST00000582161,;DHRS7B,missense_variant,p.Leu50Val,ENST00000578426,;DHRS7B,non_coding_transcript_exon_variant,,ENST00000346603,;DHRS7B,non_coding_transcript_exon_variant,,ENST00000579099,;DHRS7B,non_coding_transcript_exon_variant,,ENST00000577350,;	468	138	91	SUCCESS
NF1	4763	.	GRCh37	17	29657472	29657483	+	inframe_deletion	In_Frame_Del	DEL	CGTTAGAATTTT	CGTTAGAATTTT	-	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	CGTTAGAATTTT	CGTTAGAATTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	96	0	ENST00000358273.4:c.5768_5779del	p.Thr1923_Leu1927delinsMet	p.T1923_L1927delinsM	ENST00000358273	NM_001042492.2	1923	aCGTTAGAATTTTtg/atg	0	.	.	.	.	.	-	TLEFL/M	protein_coding	YES	CCDS42292.1	5768-5779	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTCACGTTAGAATTTTTGGAA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	39/58	.	.	.	.	.	.	.	.	.	39/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	deletion	NF1,inframe_deletion,p.Thr1568_Leu1572delinsMet,ENST00000456735,;NF1,inframe_deletion,p.Thr1923_Leu1927delinsMet,ENST00000358273,;NF1,inframe_deletion,p.Thr1902_Leu1906delinsMet,ENST00000356175,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,inframe_deletion,p.Thr43_Leu47delinsMet,ENST00000479536,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	6151-6162	96	83	SUCCESS
CA10	56934	.	GRCh37	17	49710849	49710849	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375126312	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	142	0	ENST00000285273.4:c.952C>T	p.Leu318Phe	p.L318F	ENST00000285273	NM_001082533.1	318	Ctt/Ttt	0	A:0	.	.	.	.	A	L/F	protein_coding	YES	CCDS32684.1	952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGCTTCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91	.	A:0.0001	ENSP00000405388	.	8/9	.	.	.	.	.	.	.	.	rs375126312	8/9	PASS	ENST00000451037	Transcript	.	.	ENSG00000154975	1369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	tolerated(0.17)	.	CAH10_HUMAN	CA10	HGNC	I3L375_HUMAN,B4DGL6_HUMAN	.	UPI000000167C	SNV	CA10,missense_variant,p.Leu318Phe,ENST00000285273,;CA10,missense_variant,p.Leu243Phe,ENST00000570565,;CA10,missense_variant,p.Leu324Phe,ENST00000340813,;CA10,missense_variant,p.Leu318Phe,ENST00000451037,;CA10,missense_variant,p.Leu318Phe,ENST00000442502,;CA10,downstream_gene_variant,,ENST00000575181,;CA10,downstream_gene_variant,,ENST00000571918,;CA10,3_prime_UTR_variant,,ENST00000571371,;	1893	142	114	SUCCESS
SUPT4H1	6827	.	GRCh37	17	56429508	56429508	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs201720123	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	80	0	ENST00000225504.3:c.-12C>T		p.*4*	ENST00000225504	NM_003168.2			0	C:0.0079	C:0.0091	.	C:0.0014	.	A	.	protein_coding	YES	CCDS11606.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGGGAAGA	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0	ENSP00000225504	C:0	1/5	.	.	.	.	.	.	.	.	rs201720123	1/5	PASS	ENST00000225504	Transcript	.	C:0.0026	ENSG00000213246	11467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	SPT4H_HUMAN	SUPT4H1	HGNC	J3QR04_HUMAN,D3DTZ5_HUMAN	.	UPI0000021936	SNV	SUPT4H1,5_prime_UTR_variant,,ENST00000580947,;SUPT4H1,5_prime_UTR_variant,,ENST00000577396,;SUPT4H1,5_prime_UTR_variant,,ENST00000225504,;RNF43,downstream_gene_variant,,ENST00000407977,;RNF43,downstream_gene_variant,,ENST00000584437,;RNF43,downstream_gene_variant,,ENST00000583753,;RNF43,downstream_gene_variant,,ENST00000577716,;SUPT4H1,upstream_gene_variant,,ENST00000581540,;RNF43,downstream_gene_variant,,ENST00000500597,;RNF43,downstream_gene_variant,,ENST00000581868,;RNF43,downstream_gene_variant,,ENST00000577625,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000578334,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000583826,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000580515,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000579527,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000578025,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000585236,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000580633,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000580022,;BZRAP1-AS1,non_coding_transcript_exon_variant,,ENST00000579859,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,downstream_gene_variant,,ENST00000582348,;SUPT4H1,5_prime_UTR_variant,,ENST00000581166,;SUPT4H1,upstream_gene_variant,,ENST00000579289,;SUPT4H1,upstream_gene_variant,,ENST00000581204,;	56	80	64	SUCCESS
BPTF	2186	.	GRCh37	17	65905802	65905802	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1169551725	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	48	220	0	ENST00000321892.4:c.3295A>G	p.Lys1099Glu	p.K1099E	ENST00000321892		1099	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11673.1	2917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTAAAAGGT	NONE	.	.	hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Lys973Glu,ENST00000306378,;BPTF,missense_variant,p.Lys1099Glu,ENST00000321892,;BPTF,missense_variant,p.Lys1036Glu,ENST00000544778,;BPTF,missense_variant,p.Lys1099Glu,ENST00000335221,;BPTF,missense_variant,p.Lys960Glu,ENST00000424123,;	2977	220	189	SUCCESS
SDK2	54549	.	GRCh37	17	71361407	71361407	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	62	0	ENST00000392650.3:c.5295C>T	p.Ser1765=	p.S1765=	ENST00000392650	NM_001144952.1	1765	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45769.1	5295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGGCTGCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376421	.	38/45	.	.	.	.	.	.	.	.	.	38/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,synonymous_variant,p.%3D,ENST00000424778,;SDK2,synonymous_variant,p.%3D,ENST00000388726,;SDK2,synonymous_variant,p.%3D,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	5296	62	38	SUCCESS
TP53	7157	.	GRCh37	17	7576854	7576860	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGAAGGG	TGAAGGG	-	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	TGAAGGG	TGAAGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	163	0	ENST00000269305.4:c.986_992del	p.Thr329ArgfsTer14	p.T329Rfs*14	ENST00000269305	NM_001126112.2	329	aCCCTTCAg/ag	0	.	.	.	.	.	-	TLQ/X	protein_coding	YES	CCDS11118.1	986-992	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTACCTGAAGGGTGAAA	CODON|p.0?|c.1_1182del1182|6,CODON|p.?|c.993+1G>T|5,CODON|p.?|c.993+1G>A|15,CODON|p.?|c.993+1G>T|9,CODON|p.?|c.993+1G>C|3,CODON|p.?|c.993+1G>A|6,CODON|p.?|c.993+1G>C|3,CODON|p.Q331Q|c.993G>A|4,CODON|p.Q331H|c.993G>T|5,CODON|p.Q331Q|c.993G>A|3,CODON|p.Q331H|c.993G>T|3,CODON|p.Q331H|c.993G>C|3,CODON|p.Q331*|c.991C>T|3,CODON|p.Q331*|c.991C>T|13,CODON|p.Q331*|c.991C>T|6,CODON|p.Q331*|c.991C>T|33,CODON|p.L330R|c.989T>G|4,CODON|p.L330R|c.989T>G|3,CODON|p.L330R|c.989T>G|5,CODON|p.L330H|c.989T>A|3,CODON|p.L330R|c.989T>G|3,BUFFER|p.?|c.993+2T>G|3,BUFFER|p.?|c.993+2T>C|6,BUFFER|p.?|c.993+2T>G|3,BUFFER|p.Y327*|c.981T>G|4,BUFFER|p.E326*|c.976G>T|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF07710,Gene3D:1olgA00,Superfamily_domains:SSF47719,Prints_domain:PR00386	.	.	ENSP00000269305	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Thr329ArgfsTer20,ENST00000420246,;TP53,frameshift_variant,p.Thr329ArgfsTer14,ENST00000269305,;TP53,frameshift_variant,p.Thr16SerfsTer28,ENST00000576024,;TP53,frameshift_variant,p.Thr197_Gln199del,ENST00000509690,;TP53,frameshift_variant,p.Thr329ArgfsTer21,ENST00000359597,;TP53,frameshift_variant,p.Thr329ArgfsTer14,ENST00000445888,;TP53,frameshift_variant,p.Thr329ArgfsTer12,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000504937,;TP53,splice_region_variant,,ENST00000504290,;TP53,splice_region_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1176-1182	163	55	SUCCESS
PPP5C	5536	.	GRCh37	19	46891672	46891672	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	84	0	ENST00000012443.4:c.1143G>A	p.Met381Ile	p.M381I	ENST00000012443	NM_006247.3	381	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS12684.1	1143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGTGTGA	NONE	.	.	hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300,Prints_domain:PR00114	.	.	ENSP00000012443	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	deleterious(0.02)	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,missense_variant,p.Met253Ile,ENST00000391919,;PPP5C,missense_variant,p.Met381Ile,ENST00000012443,;AC007193.8,downstream_gene_variant,,ENST00000598616,;PPP5C,missense_variant,p.Met380Ile,ENST00000478046,;PPP5C,non_coding_transcript_exon_variant,,ENST00000527623,;PPP5C,non_coding_transcript_exon_variant,,ENST00000525507,;PPP5C,non_coding_transcript_exon_variant,,ENST00000492109,;PPP5C,non_coding_transcript_exon_variant,,ENST00000491003,;PPP5C,non_coding_transcript_exon_variant,,ENST00000486994,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,downstream_gene_variant,,ENST00000532058,;PPP5C,downstream_gene_variant,,ENST00000595055,;PPP5C,downstream_gene_variant,,ENST00000527193,;PPP5C,downstream_gene_variant,,ENST00000493347,;PPP5C,downstream_gene_variant,,ENST00000467502,;	1246	84	89	SUCCESS
SIGLEC14	100049587	.	GRCh37	19	52147072	52147072	+	synonymous_variant	Silent	SNP	C	C	T	rs755305403	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	113	0	ENST00000360844.6:c.972G>A	p.Pro324=	p.P324=	ENST00000360844	NM_001098612.1	324	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42604.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCGGATG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000354090	.	5/7	.	.	.	.	.	.	.	.	rs755305403	5/7	PASS	ENST00000360844	Transcript	.	.	ENSG00000254415	32926	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIG14_HUMAN	SIGLEC14	HGNC	.	.	UPI0000E44158	SNV	SIGLEC14,synonymous_variant,p.%3D,ENST00000360844,;SIGLEC5,intron_variant,,ENST00000534261,;SIGLEC5,intron_variant,,ENST00000599649,;SIGLEC5,intron_variant,,ENST00000429354,;SIGLEC5,intron_variant,,ENST00000222107,;SIGLEC14,non_coding_transcript_exon_variant,,ENST00000533866,;	1014	113	122	SUCCESS
ZFP28	140612	.	GRCh37	19	57065248	57065248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	83	157	0	ENST00000301318.3:c.1094A>T	p.Asn365Ile	p.N365I	ENST00000301318	NM_020828.1	365	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS12946.1	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATAACAAAA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285	.	.	ENSP00000301318	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000301318	Transcript	.	.	ENSG00000196867	17801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	tolerated(0.27)	.	ZFP28_HUMAN	ZFP28	HGNC	Q68CX9_HUMAN	.	UPI000006D90E	SNV	ZFP28,missense_variant,p.Asn365Ile,ENST00000301318,;ZFP28,downstream_gene_variant,,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,;ZFP28,downstream_gene_variant,,ENST00000589836,;	1165	157	167	SUCCESS
SF3B4	10262	.	GRCh37	1	149895819	149895819	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782564837	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	61	187	0	ENST00000271628.8:c.1001C>G	p.Pro334Arg	p.P334R	ENST00000271628	NM_005850.4	334	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS941.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGGTGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24011,Prints_domain:PR01217	.	.	ENSP00000271628	.	5/6	.	.	.	.	.	.	.	.	rs782564837	5/6	PASS	ENST00000271628	Transcript	.	.	ENSG00000143368	10771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.27)	.	SF3B4_HUMAN	SF3B4	HGNC	Q5SZ64_HUMAN	.	UPI0000135472	SNV	SF3B4,missense_variant,p.Pro334Arg,ENST00000271628,;SF3B4,downstream_gene_variant,,ENST00000457312,;MTMR11,downstream_gene_variant,,ENST00000406732,;MTMR11,downstream_gene_variant,,ENST00000369140,;MTMR11,downstream_gene_variant,,ENST00000361405,;MTMR11,downstream_gene_variant,,ENST00000439741,;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000482343,;	1586	187	223	SUCCESS
CD247	919	.	GRCh37	1	167407853	167407853	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	33	110	0	ENST00000362089.5:c.254T>C	p.Val85Ala	p.V85A	ENST00000362089		85	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS1261.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAACATCG	NONE	.	.	PROSITE_profiles:PS51055,hmmpanther:PTHR10035,Pfam_domain:PF02189,SMART_domains:SM00077	.	.	ENSP00000354782	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000362089	Transcript	.	.	ENSG00000198821	1677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.3)	.	CD3Z_HUMAN	CD247	HGNC	H6QVQ5_HUMAN,A9Y844_HUMAN	.	UPI0000127362	SNV	CD247,missense_variant,p.Val85Ala,ENST00000362089,;CD247,missense_variant,p.Val85Ala,ENST00000392122,;CD247,non_coding_transcript_exon_variant,,ENST00000470379,;CD247,non_coding_transcript_exon_variant,,ENST00000476733,;CD247,non_coding_transcript_exon_variant,,ENST00000483825,;CD247,downstream_gene_variant,,ENST00000479979,;CD247,upstream_gene_variant,,ENST00000485089,;	327	110	132	SUCCESS
PADI3	51702	.	GRCh37	1	17586148	17586148	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1275283999	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	59	166	0	ENST00000375460.3:c.168G>A	p.Met56Ile	p.M56I	ENST00000375460	NM_016233.2	56	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS179.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATGGAGAG	NONE	.	.	hmmpanther:PTHR10837:SF2,hmmpanther:PTHR10837,Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF49503	.	.	ENSP00000364609	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000375460	Transcript	.	.	ENSG00000142619	18337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.44)	.	PADI3_HUMAN	PADI3	HGNC	.	.	UPI000013D8A0	SNV	PADI3,missense_variant,p.Met56Ile,ENST00000375460,;	208	166	164	SUCCESS
OR2M3	127062	.	GRCh37	1	248367150	248367150	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147728074	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	38	116	0	ENST00000456743.1:c.781C>T	p.Arg261Trp	p.R261W	ENST00000456743	NM_001004689.1	261	Cgg/Tgg	0	T:0.0011	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS31107.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATACGGCCC	SITE|p.R261W|c.781C>T|4	byCluster|by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	T:0.001	T:0.0001	ENSP00000389625	T:0	1/1	.	.	.	.	.	.	.	.	rs147728074,COSM1127058	1/1	PASS	ENST00000456743	Transcript	.	T:0.0002	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	T:0	deleterious(0.04)	0,1	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.Arg261Trp,ENST00000456743,;	819	116	131	SUCCESS
ADRBK2	0	.	GRCh37	22	25960978	25960980	+	5_prime_UTR_variant	5'UTR	DEL	CCG	CCG	-	rs775331281	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	CCG	CCG	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	46	0	ENST00000324198.6:c.-16_-14del		p.*6*	ENST00000324198	NM_005160.3			0	-:0.0038	.	.	.	.	-	.	protein_coding	YES	CCDS13832.1	.	INDELOCATOR|VARSCANI	.	GAGTAACCGCCGCC	NONE	.	.	.	.	-:0.0066	ENSP00000317578	.	1/21	.	.	.	.	.	.	.	.	rs775331281	1/21	PASS	ENST00000324198	Transcript	.	.	ENSG00000100077	290	14	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARBK2_HUMAN	ADRBK2	HGNC	Q8N433_HUMAN	.	UPI0000050EDB	deletion	ADRBK2,5_prime_UTR_variant,,ENST00000324198,;CTA-407F11.8,upstream_gene_variant,,ENST00000422876,;CTA-407F11.8,upstream_gene_variant,,ENST00000453811,;CTA-407F11.8,upstream_gene_variant,,ENST00000412773,;ADRBK2,upstream_gene_variant,,ENST00000455558,;	163-165	46	42	SUCCESS
SEZ6L	23544	.	GRCh37	22	26771563	26771563	+	synonymous_variant	Silent	SNP	G	G	A	rs146602479	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	98	0	ENST00000248933.6:c.2850G>A	p.Thr950=	p.T950=	ENST00000248933		950	acG/acA	0	A:0.007	A:0.0068	.	A:0	.	A	T	protein_coding	YES	CCDS13833.1	2850	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGTCGCT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81	A:0	A:0	ENSP00000248933	A:0	15/17	.	.	.	.	.	.	.	.	rs146602479	15/17	common_in_exac	ENST00000248933	Transcript	.	A:0.0018	ENSG00000100095	10763	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,synonymous_variant,p.%3D,ENST00000529632,;SEZ6L,synonymous_variant,p.%3D,ENST00000248933,;SEZ6L,synonymous_variant,p.%3D,ENST00000360929,;SEZ6L,synonymous_variant,p.%3D,ENST00000403121,;SEZ6L,synonymous_variant,p.%3D,ENST00000404234,;SEZ6L,synonymous_variant,p.%3D,ENST00000343706,;SEZ6L,synonymous_variant,p.%3D,ENST00000402979,;SEZ6L,intron_variant,,ENST00000411842,;SEZ6L,non_coding_transcript_exon_variant,,ENST00000494013,;	2945	98	82	SUCCESS
SLC5A4	6527	.	GRCh37	22	32620469	32620469	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	34	117	0	ENST00000266086.4:c.1450G>T	p.Gly484Ter	p.G484*	ENST00000266086	NM_014227.2	484	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS13903.1	1450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCCTGCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF112,hmmpanther:PTHR11819,PROSITE_patterns:PS00457,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266086	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000266086	Transcript	.	.	ENSG00000100191	11039	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC5A4_HUMAN	SLC5A4	HGNC	C7EWH7_HUMAN	.	UPI00001359F4	SNV	SLC5A4,stop_gained,p.Gly484Ter,ENST00000266086,;RP1-90G24.10,intron_variant,,ENST00000434942,;	1462	117	111	SUCCESS
APOBEC3B	9582	.	GRCh37	22	39387543	39387543	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	33	195	0	ENST00000333467.3:c.930C>G	p.Ala310=	p.A310=	ENST00000333467	NM_004900.4	310	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS13982.1	930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCGCAT	NONE	.	.	hmmpanther:PTHR13857:SF21,hmmpanther:PTHR13857,Superfamily_domains:SSF53927	.	.	ENSP00000327459	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000333467	Transcript	.	.	ENSG00000179750	17352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABC3B_HUMAN	APOBEC3B	HGNC	.	.	UPI00001318FE	SNV	APOBEC3B,synonymous_variant,p.%3D,ENST00000402182,;APOBEC3B,synonymous_variant,p.%3D,ENST00000407298,;APOBEC3B,synonymous_variant,p.%3D,ENST00000333467,;APOBEC3B-AS1,downstream_gene_variant,,ENST00000513758,;APOBEC3B,3_prime_UTR_variant,,ENST00000335760,;	975	195	173	SUCCESS
AC074091.13	0	.	GRCh37	2	27931241	27931241	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1301832545	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	76	0	ENST00000379677.2:c.-209C>T		p.*70*	ENST00000379677				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGTAGGC	NONE	.	.	.	.	.	ENSP00000368999	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379677	Transcript	.	.	ENSG00000205334	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC074091.13	Clone_based_vega_gene	B7WNW1_HUMAN	.	UPI0000D6117B	SNV	AC074091.13,5_prime_UTR_variant,,ENST00000379677,;	272	77	62	SUCCESS
SPTBN1	6711	.	GRCh37	2	54786000	54786000	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	344	138	535	0	ENST00000356805.4:c.148+32297G>A		p.*50*	ENST00000356805	NM_003128.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33198.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAAGGC	NONE	.	.	.	.	.	ENSP00000349259	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODIFIER	2/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Glu29Lys,ENST00000333896,;SPTBN1,intron_variant,,ENST00000356805,;SPTBN1,intron_variant,,ENST00000389980,;	.	535	482	SUCCESS
ALMS1	7840	.	GRCh37	2	73786123	73786123	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs184779459	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	83	0	ENST00000264448.6:c.10235A>G	p.Glu3412Gly	p.E3412G	ENST00000264448	NM_015120.4	3412	gAg/gGg	0	.	G:0	.	G:0	.	G	E/G	protein_coding	YES	CCDS42697.1	10235	MUTECT|MUSE	.	TGCAGAGCACT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	G:0.0069	.	ENSP00000264448	G:0	15/23	.	.	.	.	.	.	.	.	rs184779459	15/23	PASS	ENST00000264448	Transcript	.	G:0.0014	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.1)	G:0	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Glu3370Gly,ENST00000409009,;ALMS1,missense_variant,p.Glu3412Gly,ENST00000264448,;ALMS1,downstream_gene_variant,,ENST00000476650,;ALMS1,3_prime_UTR_variant,,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	10346	83	63	SUCCESS
FER1L5	90342	.	GRCh37	2	97354959	97354959	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	71	268	0	ENST00000414152.1:n.2356C>A		p.*786*	ENST00000414152				0	.	.	.	.	.	A	.	retained_intron	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCAGGCC	NONE	.	.	.	.	.	.	.	8/35	.	.	.	.	.	.	.	.	.	8/35	PASS	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;	830	268	226	SUCCESS
ABHD10	55347	.	GRCh37	3	111705759	111705759	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	33	0	ENST00000273359.3:c.439-2A>G		p.X147_splice	ENST00000273359	NM_018394.3	147		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2963.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTTTAGATTC	NONE	.	.	.	.	.	ENSP00000273359	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273359	Transcript	.	.	ENSG00000144827	25656	.	.	HIGH	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABHDA_HUMAN	ABHD10	HGNC	B7Z6A8_HUMAN	.	UPI0000042225	SNV	ABHD10,splice_acceptor_variant,,ENST00000494817,;ABHD10,splice_acceptor_variant,,ENST00000273359,;ABHD10,splice_acceptor_variant,,ENST00000534857,;ABHD10,splice_acceptor_variant,,ENST00000491580,;ABHD10,splice_acceptor_variant,,ENST00000493784,;ABHD10,downstream_gene_variant,,ENST00000497293,;	.	33	24	SUCCESS
SYN2	6854	.	GRCh37	3	12225144	12225144	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	8	0	ENST00000432424.2:n.1813G>A		p.*605*	ENST00000432424				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CTTATGTTTTC	NONE	.	.	.	.	.	.	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000432424	Transcript	.	.	ENSG00000157152	11495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SYN2	HGNC	.	.	.	SNV	SYN2,non_coding_transcript_exon_variant,,ENST00000432424,;SYN2,intron_variant,,ENST00000426379,;SYN2,intron_variant,,ENST00000425297,;SYN2,intron_variant,,ENST00000439861,;	1813	8	8	SUCCESS
CPNE4	131034	.	GRCh37	3	131388547	131388547	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	63	0	ENST00000429747.1:c.653G>A	p.Cys218Tyr	p.C218Y	ENST00000429747	NM_130808.1	218	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS3072.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCATAGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10857:SF4,hmmpanther:PTHR10857,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000421705	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000512055	Transcript	.	.	ENSG00000196353	2317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	deleterious(0)	.	CPNE4_HUMAN	CPNE4	HGNC	Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN	.	UPI0000127C14	SNV	CPNE4,missense_variant,p.Cys236Tyr,ENST00000502818,;CPNE4,missense_variant,p.Cys218Tyr,ENST00000429747,;CPNE4,missense_variant,p.Cys236Tyr,ENST00000512332,;CPNE4,missense_variant,p.Cys218Tyr,ENST00000512055,;CPNE4,missense_variant,p.Cys218Tyr,ENST00000511604,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;	2780	63	47	SUCCESS
TMEM43	79188	.	GRCh37	3	14174384	14174384	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	51	171	0	ENST00000306077.4:c.461A>G	p.Glu154Gly	p.E154G	ENST00000306077	NM_024334.2	154	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS2618.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGAAATCA	NONE	.	.	Pfam_domain:PF07787,hmmpanther:PTHR13416:SF0,hmmpanther:PTHR13416	.	.	ENSP00000303992	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000306077	Transcript	.	.	ENSG00000170876	28472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.426)	.	deleterious(0.02)	.	TMM43_HUMAN	TMEM43	HGNC	.	.	UPI0000048F42	SNV	TMEM43,missense_variant,p.Glu154Gly,ENST00000306077,;RP11-434D12.1,upstream_gene_variant,,ENST00000601399,;TMEM43,3_prime_UTR_variant,,ENST00000432444,;RP11-434D12.1,upstream_gene_variant,,ENST00000608606,;	715	171	172	SUCCESS
PIK3CA	5290	.	GRCh37	3	178916726	178916726	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772110575	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	49	206	0	ENST00000263967.3:c.113G>A	p.Arg38His	p.R38H	ENST00000263967	NM_006218.2	38	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS43171.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGTGAGG	SITE|p.R38H|c.113G>A|6,SITE|p.R38H|c.113G>A|14,CODON|p.R38C|c.112C>T|8,CODON|p.R38C|c.112C>T|9,BUFFER|p.E39K|c.115G>A|6,BUFFER|p.E39K|c.115G>A|7	.	.	PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	.	.	ENSP00000263967	.	2/21	.	.	.	.	.	.	.	.	rs772110575,COSM745,COSM729834,COSM1041449,COSM729833	2/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	0,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Arg38His,ENST00000468036,;PIK3CA,missense_variant,p.Arg38His,ENST00000263967,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	270	206	163	SUCCESS
USP13	8975	.	GRCh37	3	179474892	179474892	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	44	0	ENST00000263966.3:c.1948+26A>T		p.*650*	ENST00000263966	NM_003940.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3235.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCAATGTC	NONE	.	.	.	.	.	ENSP00000263966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263966	Transcript	.	.	ENSG00000058056	12611	.	.	MODIFIER	16/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP13_HUMAN	USP13	HGNC	.	.	UPI000006DC10	SNV	USP13,intron_variant,,ENST00000263966,;USP13,intron_variant,,ENST00000496897,;USP13,intron_variant,,ENST00000497155,;USP13,non_coding_transcript_exon_variant,,ENST00000482333,;	.	44	67	SUCCESS
ITIH4	3700	.	GRCh37	3	52847499	52847499	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	51	194	0	ENST00000266041.4:c.2731A>C	p.Arg911=	p.R911=	ENST00000266041	NM_002218.4	911	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS2865.1	2731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTGCGCT	NONE	.	.	hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338,Pfam_domain:PF06668	.	.	ENSP00000266041	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,synonymous_variant,p.%3D,ENST00000346281,;ITIH4,synonymous_variant,p.%3D,ENST00000266041,;ITIH4,synonymous_variant,p.%3D,ENST00000441637,;ITIH4,synonymous_variant,p.%3D,ENST00000485816,;ITIH4,synonymous_variant,p.%3D,ENST00000406595,;ITIH3,downstream_gene_variant,,ENST00000416872,;ITIH3,downstream_gene_variant,,ENST00000449956,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000464000,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH3,downstream_gene_variant,,ENST00000493136,;ITIH4,downstream_gene_variant,,ENST00000461966,;ITIH4,downstream_gene_variant,,ENST00000481977,;	2828	194	160	SUCCESS
PITX2	5308	.	GRCh37	4	111543738	111543738	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	51	0	ENST00000354925.2:c.185-1213C>T		p.*62*	ENST00000354925	NM_001204397.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3694.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGGGGAC	NONE	.	.	.	.	.	ENSP00000304169	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000306732	Transcript	1	.	ENSG00000164093	9005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PITX2_HUMAN	PITX2	HGNC	.	.	UPI000002B122	SNV	PITX2,5_prime_UTR_variant,,ENST00000557119,;PITX2,5_prime_UTR_variant,,ENST00000306732,;PITX2,intron_variant,,ENST00000394598,;PITX2,intron_variant,,ENST00000394595,;PITX2,intron_variant,,ENST00000354925,;PITX2,intron_variant,,ENST00000511990,;PITX2,intron_variant,,ENST00000355080,;PITX2,intron_variant,,ENST00000511837,;PITX2,upstream_gene_variant,,ENST00000556049,;PITX2,upstream_gene_variant,,ENST00000607868,;	522	51	23	SUCCESS
KIAA1109	84162	.	GRCh37	4	123275094	123275094	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767116983	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	260	0	ENST00000264501.4:c.14227C>T	p.Arg4743Cys	p.R4743C	ENST00000264501		4743	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS43267.1	14227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCGTCGC	SITE|p.R4743C|c.14227C>T|5	byFrequency	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640,Pfam_domain:PF10479	.	.	ENSP00000264501	.	82/86	.	.	.	.	.	.	.	.	rs767116983,COSM271338	82/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.985)	.	.	0,1	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Arg1119Cys,ENST00000306802,;KIAA1109,missense_variant,p.Arg1412Cys,ENST00000438707,;KIAA1109,missense_variant,p.Arg4743Cys,ENST00000264501,;KIAA1109,missense_variant,p.Arg4743Cys,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000491933,;	14600	260	145	SUCCESS
ELMOD2	255520	.	GRCh37	4	141464674	141464674	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	44	0	ENST00000323570.3:c.670T>C	p.Leu224=	p.L224=	ENST00000323570	NM_153702.3	224	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3752.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTTTGAAG	NONE	.	.	PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF21,hmmpanther:PTHR12771,Pfam_domain:PF04727	.	.	ENSP00000326342	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000323570	Transcript	.	.	ENSG00000179387	28111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMD2_HUMAN	ELMOD2	HGNC	D6RJB5_HUMAN,D6RHX2_HUMAN,D6RBS5_HUMAN	.	UPI0000074163	SNV	ELMOD2,synonymous_variant,p.%3D,ENST00000323570,;ELMOD2,downstream_gene_variant,,ENST00000502397,;ELMOD2,downstream_gene_variant,,ENST00000513606,;ELMOD2,non_coding_transcript_exon_variant,,ENST00000502290,;ELMOD2,downstream_gene_variant,,ENST00000512057,;	802	44	33	SUCCESS
TENM3	55714	.	GRCh37	4	183721165	183721165	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	175	0	ENST00000511685.1:c.7761C>T	p.Asn2587=	p.N2587=	ENST00000511685		2587	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS47165.1	7761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAACGGCAG	BUFFER|p.R2589M|c.7766G>T|3	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,synonymous_variant,p.%3D,ENST00000511685,;TENM3,synonymous_variant,p.%3D,ENST00000406950,;	7884	175	82	SUCCESS
SLIT2	9353	.	GRCh37	4	20552501	20552502	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	54	0	ENST00000504154.1:c.2542_2543del	p.Leu848PhefsTer16	p.L848Ffs*16	ENST00000504154	NM_004787.1	847	gaTCtt/gatt	0	.	.	.	.	.	-	DL/DX	protein_coding	YES	CCDS3426.1	2541-2542	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATGATCTTTCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	deletion	SLIT2,frameshift_variant,p.Leu852PhefsTer16,ENST00000273739,;SLIT2,frameshift_variant,p.Leu848PhefsTer16,ENST00000504154,;SLIT2,frameshift_variant,p.Leu840PhefsTer16,ENST00000503823,;SLIT2,frameshift_variant,p.Leu844PhefsTer16,ENST00000503837,;SLIT2,frameshift_variant,p.Leu49PhefsTer16,ENST00000511508,;SLIT2,upstream_gene_variant,,ENST00000509941,;SLIT2,non_coding_transcript_exon_variant,,ENST00000509394,;	2793-2794	54	28	SUCCESS
YIPF7	285525	.	GRCh37	4	44631421	44631421	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	300	16	81	0	ENST00000332990.5:c.497T>C	p.Leu166Pro	p.L166P	ENST00000332990	NM_182592.2	166	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS54766.1	497	MUTECT|MUSE	.	TTACCAGAAGC	NONE	.	.	hmmpanther:PTHR21236:SF5,hmmpanther:PTHR21236,Pfam_domain:PF04893	.	.	ENSP00000332772	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000332990	Transcript	.	.	ENSG00000177752	26825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	YIPF7_HUMAN	YIPF7	HGNC	.	.	UPI00015347BF	SNV	YIPF7,missense_variant,p.Leu142Pro,ENST00000415895,;YIPF7,missense_variant,p.Leu166Pro,ENST00000332990,;YIPF7,non_coding_transcript_exon_variant,,ENST00000510035,;YIPF7,non_coding_transcript_exon_variant,,ENST00000502794,;	514	81	316	SUCCESS
STK32B	55351	.	GRCh37	4	5053565	5053565	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs575547497	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	195	0	ENST00000282908.5:c.-26T>C		p.*9*	ENST00000282908	NM_018401.1			0	.	G:0	.	G:0	.	C	.	protein_coding	YES	CCDS3380.1	.	MUTECT|MUSE	.	GGGCATGTAGC	NONE	by1000G	.	.	G:0.001	.	ENSP00000282908	G:0	1/12	.	.	.	.	.	.	.	.	rs575547497	1/12	PASS	ENST00000282908	Transcript	.	G:0.0002	ENSG00000152953	14217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,5_prime_UTR_variant,,ENST00000282908,;STK32B,5_prime_UTR_variant,,ENST00000512018,;	397	195	146	SUCCESS
ATG12	9140	.	GRCh37	5	115177201	115177201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	30	135	0	ENST00000509910.1:c.49G>T	p.Ala17Ser	p.A17S	ENST00000509910		17	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS4122.2	49	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCAGCAA	NONE	.	.	hmmpanther:PTHR13385	.	.	ENSP00000425107	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000509910	Transcript	.	.	ENSG00000145782	588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.52)	.	ATG12_HUMAN	ATG12	HGNC	.	.	UPI0000125C66	SNV	ATG12,missense_variant,p.Ala17Ser,ENST00000509910,;ATG12,missense_variant,p.Ala17Ser,ENST00000500945,;ATG12,missense_variant,p.Ala64Ser,ENST00000274459,;AP3S1,5_prime_UTR_variant,,ENST00000316788,;ATG12,non_coding_transcript_exon_variant,,ENST00000514775,;ATG12,upstream_gene_variant,,ENST00000509598,;AP3S1,upstream_gene_variant,,ENST00000514118,;ATG12,missense_variant,p.Ala17Ser,ENST00000379594,;ATG12,missense_variant,p.Ala17Ser,ENST00000513322,;ATG12,missense_variant,p.Ala22Ser,ENST00000505993,;ATG12,missense_variant,p.Ala15Ser,ENST00000513167,;ATG12,upstream_gene_variant,,ENST00000511984,;ATG12,upstream_gene_variant,,ENST00000508464,;AP3S1,upstream_gene_variant,,ENST00000509055,;AP3S1,upstream_gene_variant,,ENST00000395548,;AP3S1,upstream_gene_variant,,ENST00000515066,;AP3S1,upstream_gene_variant,,ENST00000506430,;	355	135	120	SUCCESS
PCDHB5	26167	.	GRCh37	5	140516915	140516915	+	synonymous_variant	Silent	SNP	C	C	T	rs782557585	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	83	0	ENST00000231134.5:c.1899C>T	p.Asp633=	p.D633=	ENST00000231134	NM_015669.2	633	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS4247.1	1899	MUTECT|MUSE	.	CGCGACGCGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	rs782557585	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,synonymous_variant,p.%3D,ENST00000231134,;	2116	83	63	SUCCESS
HAND1	9421	.	GRCh37	5	153857205	153857205	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	88	0	ENST00000231121.2:c.364C>G	p.Pro122Ala	p.P122A	ENST00000231121	NM_004821.2	122	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS4327.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGGGATGC	NONE	.	.	Superfamily_domains:SSF47459,SMART_domains:SM00353,Gene3D:4.10.280.10,Pfam_domain:PF00010,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF3,PROSITE_profiles:PS50888	.	.	ENSP00000231121	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000231121	Transcript	.	.	ENSG00000113196	4807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HAND1_HUMAN	HAND1	HGNC	.	.	UPI000012C083	SNV	HAND1,missense_variant,p.Pro122Ala,ENST00000231121,;	620	88	77	SUCCESS
SLIT3	6586	.	GRCh37	5	168180048	168180048	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	38	146	0	ENST00000519560.1:c.1885A>T	p.Ser629Cys	p.S629C	ENST00000519560	NM_003062.3	629	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS4369.1	1885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACTCAGGC	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000430333	.	18/36	.	.	.	.	.	.	.	.	.	18/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.618)	.	deleterious(0.01)	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,missense_variant,p.Ser629Cys,ENST00000332966,;SLIT3,missense_variant,p.Ser629Cys,ENST00000519560,;SLIT3,missense_variant,p.Ser629Cys,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	2305	146	111	SUCCESS
TRDN	10345	.	GRCh37	6	123868487	123868487	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	298	123	578	0	ENST00000334268.4:c.422A>C	p.Lys141Thr	p.K141T	ENST00000334268		141	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS55053.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTTTTTTT	NONE	.	.	hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0,Pfam_domain:PF05279	.	.	ENSP00000381240	.	4/41	.	.	.	.	.	.	.	.	.	4/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Lys141Thr,ENST00000398178,;TRDN,missense_variant,p.Lys141Thr,ENST00000334268,;TRDN,missense_variant,p.Lys141Thr,ENST00000546248,;TRDN,missense_variant,p.Lys141Thr,ENST00000542443,;	444	578	421	SUCCESS
ECT2L	345930	.	GRCh37	6	139164328	139164328	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	132	0	ENST00000367682.2:c.555C>T	p.Cys185=	p.C185=	ENST00000367682	NM_001077706.2	185	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS43508.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGCCTGAG	NONE	.	.	hmmpanther:PTHR12673:SF70,hmmpanther:PTHR12673	.	.	ENSP00000387388	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000423192	Transcript	.	.	ENSG00000203734	21118	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ECT2L_HUMAN	ECT2L	HGNC	B7ZBI6_HUMAN	.	UPI0000E86804	SNV	ECT2L,synonymous_variant,p.%3D,ENST00000367682,;ECT2L,synonymous_variant,p.%3D,ENST00000541398,;ECT2L,synonymous_variant,p.%3D,ENST00000423192,;ECT2L,downstream_gene_variant,,ENST00000401414,;	716	132	111	SUCCESS
TAGAP	117289	.	GRCh37	6	159456896	159456896	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	82	0	ENST00000367066.3:c.2159C>T	p.Ala720Val	p.A720V	ENST00000367066	NM_054114.4	720	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5261.1	2159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGCCTCA	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF26	.	.	ENSP00000356033	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367066	Transcript	.	.	ENSG00000164691	15669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(1)	.	TAGAP_HUMAN	TAGAP	HGNC	.	.	UPI0000071CD5	SNV	TAGAP,missense_variant,p.Ala542Val,ENST00000326965,;TAGAP,missense_variant,p.Ala720Val,ENST00000367066,;TAGAP,downstream_gene_variant,,ENST00000338313,;RP1-111C20.4,intron_variant,,ENST00000606470,;RP1-111C20.4,intron_variant,,ENST00000606466,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000607391,;	2491	82	60	SUCCESS
GABBR1	2550	.	GRCh37	6	29599329	29599329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	5	117	0	ENST00000377034.4:c.133G>A	p.Gly45Ser	p.G45S	ENST00000377034	NM_001470.2	45	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4663.1	133	MUTECT|MUSE	.	CAGGCCCCGGT	NONE	.	.	SMART_domains:SM00032	.	.	ENSP00000366233	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Gly45Ser,ENST00000462632,;GABBR1,missense_variant,p.Gly45Ser,ENST00000377016,;GABBR1,missense_variant,p.Gly45Ser,ENST00000376977,;GABBR1,missense_variant,p.Gly50Ser,ENST00000476670,;GABBR1,missense_variant,p.Gly45Ser,ENST00000377034,;GABBR1,upstream_gene_variant,,ENST00000355973,;GABBR1,upstream_gene_variant,,ENST00000377012,;GABBR1,missense_variant,p.Gly45Ser,ENST00000485508,;GABBR1,missense_variant,p.Gly45Ser,ENST00000494877,;GABBR1,missense_variant,p.Gly45Ser,ENST00000472823,;GABBR1,missense_variant,p.Gly45Ser,ENST00000491829,;GABBR1,missense_variant,p.Gly45Ser,ENST00000489385,;GABBR1,non_coding_transcript_exon_variant,,ENST00000467259,;SUMO2P1,downstream_gene_variant,,ENST00000445436,;	469	117	136	SUCCESS
COL19A1	1310	.	GRCh37	6	70890211	70890211	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	115	0	ENST00000322773.4:c.2675C>T	p.Pro892Leu	p.P892L	ENST00000322773	NM_001858.4	892	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4970.1	2675	RADIA|MUTECT|MUSE	.	AAAACCTGGTG	NONE	.	.	Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022,Low_complexity_(Seg):seg	.	.	ENSP00000316030	.	43/51	.	.	.	.	.	.	.	.	.	43/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Pro892Leu,ENST00000322773,;COL19A1,missense_variant,p.Pro514Leu,ENST00000393344,;	2777	115	104	SUCCESS
ZAN	7455	.	GRCh37	7	100344192	100344192	+	synonymous_variant	Silent	SNP	T	T	C	rs1414511155	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	69	0	ENST00000546292.1:c.798T>C	p.Asn266=	p.N266=	ENST00000546292	NM_173059.1	266	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	.	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATGCAAG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	7/46	.	.	.	.	.	.	.	.	.	7/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	946	69	78	SUCCESS
TRIP6	7205	.	GRCh37	7	100465851	100465851	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs146119019	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	64	0	ENST00000200457.4:c.359G>C	p.Arg120Pro	p.R120P	ENST00000200457	NM_003302.2	120	cGa/cCa	0	A:0	.	.	.	.	C	R/P	protein_coding	YES	CCDS5708.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGACAGG	NONE	byCluster	.	hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF7	.	A:0.0001	ENSP00000200457	.	3/9	.	.	.	.	.	.	.	.	rs146119019	3/9	PASS	ENST00000200457	Transcript	.	.	ENSG00000087077	12311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.586)	.	tolerated(0.33)	.	TRIP6_HUMAN	TRIP6	HGNC	Q71V88_HUMAN	.	UPI00000012CD	SNV	TRIP6,missense_variant,p.Arg120Pro,ENST00000200457,;SLC12A9,downstream_gene_variant,,ENST00000354161,;TRIP6,upstream_gene_variant,,ENST00000429658,;SLC12A9,downstream_gene_variant,,ENST00000275729,;SLC12A9,downstream_gene_variant,,ENST00000415287,;SLC12A9,downstream_gene_variant,,ENST00000428758,;SLC12A9,downstream_gene_variant,,ENST00000540482,;SLC12A9,downstream_gene_variant,,ENST00000482184,;TRIP6,synonymous_variant,p.%3D,ENST00000417475,;TRIP6,synonymous_variant,p.%3D,ENST00000437505,;TRIP6,non_coding_transcript_exon_variant,,ENST00000476870,;TRIP6,upstream_gene_variant,,ENST00000463125,;SLC12A9,downstream_gene_variant,,ENST00000487651,;SLC12A9,downstream_gene_variant,,ENST00000467972,;SLC12A9,downstream_gene_variant,,ENST00000475687,;TRIP6,upstream_gene_variant,,ENST00000488670,;TRIP6,downstream_gene_variant,,ENST00000496260,;	719	65	83	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113558267	113558267	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	62	0	ENST00000284601.3:c.782+3G>T		p.X261_splice	ENST00000284601	NM_002711.3	261		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5759.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCACCTT	NONE	.	.	.	.	.	ENSP00000284601	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	LOW	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,splice_region_variant,,ENST00000284601,;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,splice_region_variant,,ENST00000284602,;	.	62	45	SUCCESS
MICALL2	79778	.	GRCh37	7	1477547	1477547	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	43	124	0	ENST00000297508.7:c.2381A>T	p.Gln794Leu	p.Q794L	ENST00000297508	NM_182924.3	794	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5324.1	2381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCTGTCTC	NONE	.	.	hmmpanther:PTHR25069:SF96,hmmpanther:PTHR25069,Pfam_domain:PF12130	.	.	ENSP00000297508	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000297508	Transcript	.	.	ENSG00000164877	29672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(1)	.	MILK2_HUMAN	MICALL2	HGNC	.	.	UPI00000742E0	SNV	MICALL2,missense_variant,p.Gln794Leu,ENST00000297508,;MICALL2,missense_variant,p.Gln582Leu,ENST00000405088,;MICALL2,non_coding_transcript_exon_variant,,ENST00000471899,;MICALL2,3_prime_UTR_variant,,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000467394,;MICALL2,non_coding_transcript_exon_variant,,ENST00000460198,;MICALL2,non_coding_transcript_exon_variant,,ENST00000496184,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000470807,;MICALL2,non_coding_transcript_exon_variant,,ENST00000479007,;MICALL2,intron_variant,,ENST00000487187,;MICALL2,intron_variant,,ENST00000467783,;MICALL2,downstream_gene_variant,,ENST00000487156,;MICALL2,upstream_gene_variant,,ENST00000493998,;	2557	125	153	SUCCESS
ELFN1	392617	.	GRCh37	7	1785451	1785451	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775064972	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	71	0	ENST00000424383.2:c.1219G>A	p.Gly407Ser	p.G407S	ENST00000424383		407	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS59046.1	1219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTGGTCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF34	.	.	ENSP00000456548	.	3/3	.	.	.	.	.	.	.	.	rs775064972	3/3	PASS	ENST00000424383	Transcript	.	.	ENSG00000225968	33154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.16)	.	ELFN1_HUMAN	ELFN1	HGNC	.	.	UPI0000251E11	SNV	ELFN1,missense_variant,p.Gly407Ser,ENST00000561626,;ELFN1,missense_variant,p.Gly407Ser,ENST00000424383,;ELFN1,missense_variant,p.Gly407Ser,ENST00000541472,;AC074389.9,upstream_gene_variant,,ENST00000415399,;AC074389.9,upstream_gene_variant,,ENST00000453348,;	1706	71	80	SUCCESS
KIFC2	90990	.	GRCh37	8	145698094	145698094	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	15	0	ENST00000301332.2:c.1861+5C>A		p.X621_splice	ENST00000301332	NM_145754.2	621		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6427.1	.	MUTECT|MUSE	.	GGTACCACGGC	NONE	.	.	.	.	.	ENSP00000301332	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301332	Transcript	.	.	ENSG00000167702	29530	.	.	LOW	16/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIFC2_HUMAN	KIFC2	HGNC	.	.	UPI000006D3B2	SNV	KIFC2,missense_variant,p.His273Asn,ENST00000301331,;KIFC2,splice_region_variant,,ENST00000301332,;FOXH1,downstream_gene_variant,,ENST00000377317,;KIFC2,non_coding_transcript_exon_variant,,ENST00000531423,;FOXH1,downstream_gene_variant,,ENST00000525197,;KIFC2,non_coding_transcript_exon_variant,,ENST00000531425,;KIFC2,downstream_gene_variant,,ENST00000529864,;KIFC2,downstream_gene_variant,,ENST00000529644,;KIFC2,downstream_gene_variant,,ENST00000533114,;	.	15	36	SUCCESS
CSGALNACT1	55790	.	GRCh37	8	19315958	19315958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs35454485	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	53	190	0	ENST00000332246.6:c.830G>A	p.Arg277Gln	p.R277Q	ENST00000332246	NM_018371.4	277	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6010.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCGGAAC	NONE	byCluster	.	hmmpanther:PTHR12369:SF19,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000411816	.	5/10	.	.	.	.	.	.	.	.	rs35454485	5/10	PASS	ENST00000454498	Transcript	.	.	ENSG00000147408	24290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.27)	.	CGAT1_HUMAN	CSGALNACT1	HGNC	E5RK93_HUMAN,E5RJB6_HUMAN,E5RGB2_HUMAN	.	UPI000013F19F	SNV	CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000332246,;CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000544602,;CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000311540,;CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000522854,;CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000454498,;CSGALNACT1,non_coding_transcript_exon_variant,,ENST00000518542,;CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000519222,;CSGALNACT1,missense_variant,p.Arg277Gln,ENST00000397998,;	1844	190	131	SUCCESS
SNX30	401548	.	GRCh37	9	115567201	115567201	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	86	0	ENST00000374232.3:c.302A>T	p.His101Leu	p.H101L	ENST00000374232	NM_001012994.1	101	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS43865.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCATGTGT	NONE	.	.	PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF123,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000363349	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000374232	Transcript	.	.	ENSG00000148158	23685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SNX30_HUMAN	SNX30	HGNC	.	.	UPI0000457796	SNV	SNX30,missense_variant,p.His101Leu,ENST00000374232,;	466	86	74	SUCCESS
GBA2	57704	.	GRCh37	9	35740607	35740607	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	94	1	ENST00000378103.3:c.1045C>G	p.His349Asp	p.H349D	ENST00000378103	NM_020944.2	349	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS6589.1	1045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTGGGTTA	NONE	.	.	PIRSF_domain:PIRSF028944,Pfam_domain:PF12215,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654,Low_complexity_(Seg):seg	.	.	ENSP00000367343	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000378103	Transcript	.	.	ENSG00000070610	18986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.08)	.	GBA2_HUMAN	GBA2	HGNC	.	.	UPI0000073FD5	SNV	GBA2,missense_variant,p.His349Asp,ENST00000378103,;GBA2,missense_variant,p.His355Asp,ENST00000545786,;GBA2,missense_variant,p.His349Asp,ENST00000378094,;GBA2,upstream_gene_variant,,ENST00000378088,;CREB3,downstream_gene_variant,,ENST00000353704,;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,;GBA2,upstream_gene_variant,,ENST00000486797,;GBA2,upstream_gene_variant,,ENST00000488292,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000485259,;GBA2,downstream_gene_variant,,ENST00000489025,;	1569	95	83	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43861205	43861205	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	A	A	C	rs571362831	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	12	0	ENST00000377561.2:n.2225A>C		p.X742_splice	ENST00000377561		742		0	.	C:0	.	C:0	.	C	R	protein_coding	YES	CCDS55312.1	2079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACGAGGTAA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127	C:0.002	.	ENSP00000366787	C:0	13/24	.	.	.	.	.	.	.	.	rs571362831	13/24	PASS	ENST00000377564	Transcript	.	C:0.0004	ENSG00000154529	32035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,synonymous_variant,p.%3D,ENST00000377564,;CNTNAP3B,synonymous_variant,p.%3D,ENST00000479351,;CNTNAP3B,splice_region_variant,,ENST00000341990,;CNTNAP3B,splice_region_variant,,ENST00000377561,;	2472	12	21	SUCCESS
MAOB	4129	.	GRCh37	X	43634423	43634423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	24	40	0	ENST00000378069.4:c.1234A>T	p.Arg412Trp	p.R412W	ENST00000378069	NM_000898.4	412	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS14261.1	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCTTCCAT	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Prints_domain:PR00757	.	.	ENSP00000367309	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,missense_variant,p.Arg396Trp,ENST00000536181,;MAOB,missense_variant,p.Arg412Trp,ENST00000378069,;MAOB,intron_variant,,ENST00000538942,;	1382	40	42	SUCCESS
INA	9118	.	GRCh37	10	105037504	105037504	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	21	0	ENST00000369849.4:c.536G>T	p.Arg179Leu	p.R179L	ENST00000369849	NM_032727.3	179	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7545.1	536	MUTECT|MUSE	.	GCTGCGGGCGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132,Pfam_domain:PF00038,Superfamily_domains:SSF90257	.	.	ENSP00000358865	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369849	Transcript	.	.	ENSG00000148798	6057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.206)	.	deleterious(0.01)	.	AINX_HUMAN	INA	HGNC	B4DE66_HUMAN	.	UPI000012573C	SNV	INA,missense_variant,p.Arg179Leu,ENST00000369849,;	585	21	18	SUCCESS
PROSER2	254427	.	GRCh37	10	11912001	11912001	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs953559219	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	18	0	ENST00000277570.5:c.904G>A	p.Ala302Thr	p.A302T	ENST00000277570	NM_153256.3	302	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7085.1	904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACGCCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16095,hmmpanther:PTHR16095:SF9	.	.	ENSP00000277570	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000277570	Transcript	.	.	ENSG00000148426	23728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.65)	.	PRSR2_HUMAN	PROSER2	HGNC	D3DRR9_HUMAN	.	UPI00001F8B49	SNV	PROSER2,missense_variant,p.Ala302Thr,ENST00000277570,;PROSER2,missense_variant,p.Ala106Thr,ENST00000379200,;PROSER2,downstream_gene_variant,,ENST00000444604,;PROSER2-AS1,intron_variant,,ENST00000453242,;PROSER2-AS1,intron_variant,,ENST00000445498,;PROSER2,downstream_gene_variant,,ENST00000474155,;	1058	18	24	SUCCESS
CYP2E1	1571	.	GRCh37	10	135340900	135340900	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	19	64	0	ENST00000252945.3:c.1A>G	p.Met1?	p.M1?	ENST00000252945	NM_000773.3	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS7686.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCATGTCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300	.	.	ENSP00000440689	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000463117	Transcript	.	.	ENSG00000130649	2631	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	deleterious(0.01)	.	CP2E1_HUMAN	CYP2E1	HGNC	Q4LBD0_HUMAN,F5H694_HUMAN	.	UPI0000128291	SNV	CYP2E1,start_lost,p.Met1?,ENST00000541261,;CYP2E1,start_lost,p.Met1?,ENST00000463117,;CYP2E1,start_lost,p.Met1?,ENST00000252945,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,upstream_gene_variant,,ENST00000418356,;AL161645.2,downstream_gene_variant,,ENST00000599428,;CYP2E1,upstream_gene_variant,,ENST00000421586,;CYP2E1,upstream_gene_variant,,ENST00000477500,;CYP2E1,upstream_gene_variant,,ENST00000480558,;RP11-108K14.4,downstream_gene_variant,,ENST00000488261,;CYP2E1,upstream_gene_variant,,ENST00000541080,;CYP2E1,upstream_gene_variant,,ENST00000368520,;RP11-108K14.4,downstream_gene_variant,,ENST00000356567,;	273	64	90	SUCCESS
NEBL	10529	.	GRCh37	10	21120513	21120513	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs750724612	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	65	1	ENST00000377122.4:c.1450-1G>A		p.X484_splice	ENST00000377122	NM_006393.2	484		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7134.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCTGCAG	NONE	.	.	.	.	.	ENSP00000366326	.	.	.	.	.	.	.	.	.	.	rs750724612	.	PASS	ENST00000377122	Transcript	.	.	ENSG00000078114	16932	.	.	HIGH	14/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,splice_acceptor_variant,,ENST00000377122,;NEBL,intron_variant,,ENST00000377159,;NEBL,intron_variant,,ENST00000417816,;NEBL,downstream_gene_variant,,ENST00000482754,;NEBL,splice_acceptor_variant,,ENST00000493005,;NEBL,upstream_gene_variant,,ENST00000498424,;	.	66	63	SUCCESS
POU2F3	25833	.	GRCh37	11	120175898	120175898	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765706119	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	10	109	0	ENST00000543440.2:c.604C>T	p.Arg202Cys	p.R202C	ENST00000543440	NM_014352.3	202	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS58190.1	610	MUTECT|MUSE	.	AGAGGCGCATT	NONE	.	.	PROSITE_profiles:PS51179,hmmpanther:PTHR11636:SF81,hmmpanther:PTHR11636,PROSITE_patterns:PS00035,Gene3D:1.10.260.40,Pfam_domain:PF00157,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028	.	.	ENSP00000260264	.	7/13	.	.	.	.	.	.	.	.	rs765706119	7/13	PASS	ENST00000260264	Transcript	.	.	ENSG00000137709	19864	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PO2F3_HUMAN	POU2F3	HGNC	.	.	UPI0002064EE0	SNV	POU2F3,missense_variant,p.Arg204Cys,ENST00000260264,;POU2F3,missense_variant,p.Arg202Cys,ENST00000543440,;POU2F3,upstream_gene_variant,,ENST00000532663,;POU2F3,3_prime_UTR_variant,,ENST00000533620,;POU2F3,downstream_gene_variant,,ENST00000606153,;POU2F3,upstream_gene_variant,,ENST00000532638,;	644	109	127	SUCCESS
PACSIN3	29763	.	GRCh37	11	47201777	47201777	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772927740	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	32	0	ENST00000298838.6:c.563T>A	p.Leu188Gln	p.L188Q	ENST00000298838	NM_016223.4	188	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31481.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGTTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10959:SF1,hmmpanther:PTHR10959,Superfamily_domains:SSF103657	.	.	ENSP00000440945	.	6/11	.	.	.	.	.	.	.	.	rs772927740	6/11	PASS	ENST00000539589	Transcript	.	.	ENSG00000165912	8572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.4)	.	deleterious(0)	.	PACN3_HUMAN	PACSIN3	HGNC	E9PQ12_HUMAN,E9PNM9_HUMAN,E9PJ75_HUMAN,E9PJ33_HUMAN,E9PIZ6_HUMAN	.	UPI0000034CB1	SNV	PACSIN3,missense_variant,p.Leu188Gln,ENST00000298838,;PACSIN3,missense_variant,p.Leu188Gln,ENST00000539589,;PACSIN3,missense_variant,p.Leu188Gln,ENST00000528462,;PACSIN3,5_prime_UTR_variant,,ENST00000530513,;PACSIN3,5_prime_UTR_variant,,ENST00000528201,;ARFGAP2,upstream_gene_variant,,ENST00000527927,;ARFGAP2,upstream_gene_variant,,ENST00000319543,;ARFGAP2,upstream_gene_variant,,ENST00000524782,;ARFGAP2,upstream_gene_variant,,ENST00000525314,;ARFGAP2,upstream_gene_variant,,ENST00000530596,;ARFGAP2,upstream_gene_variant,,ENST00000419701,;ARFGAP2,upstream_gene_variant,,ENST00000526342,;ARFGAP2,upstream_gene_variant,,ENST00000426335,;PACSIN3,downstream_gene_variant,,ENST00000525725,;PACSIN3,upstream_gene_variant,,ENST00000533686,;ARFGAP2,upstream_gene_variant,,ENST00000525398,;PACSIN3,downstream_gene_variant,,ENST00000531226,;PACSIN3,downstream_gene_variant,,ENST00000524509,;ARFGAP2,upstream_gene_variant,,ENST00000528444,;PACSIN3,downstream_gene_variant,,ENST00000530405,;ARFGAP2,upstream_gene_variant,,ENST00000395449,;ARFGAP2,upstream_gene_variant,,ENST00000533939,;ARFGAP2,upstream_gene_variant,,ENST00000531750,;ARFGAP2,upstream_gene_variant,,ENST00000529599,;PACSIN3,missense_variant,p.Leu188Gln,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000527097,;ARFGAP2,upstream_gene_variant,,ENST00000529439,;ARFGAP2,upstream_gene_variant,,ENST00000529455,;ARFGAP2,upstream_gene_variant,,ENST00000532478,;ARFGAP2,upstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000528708,;ARFGAP2,upstream_gene_variant,,ENST00000530794,;ARFGAP2,upstream_gene_variant,,ENST00000532438,;ARFGAP2,upstream_gene_variant,,ENST00000528041,;ARFGAP2,upstream_gene_variant,,ENST00000533243,;ARFGAP2,upstream_gene_variant,,ENST00000524727,;ARFGAP2,upstream_gene_variant,,ENST00000524586,;ARFGAP2,upstream_gene_variant,,ENST00000526185,;	906	32	30	SUCCESS
TYR	7299	.	GRCh37	11	89028410	89028410	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	31	176	0	ENST00000263321.5:c.1466C>T	p.Thr489Ile	p.T489I	ENST00000263321	NM_000372.4	489	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8284.1	1466	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACTGCCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16	.	.	ENSP00000263321	.	5/5	.	.	.	.	.	.	.	.	COSM396397	5/5	PASS	ENST00000263321	Transcript	.	.	ENSG00000077498	12442	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.006)	.	tolerated(0.1)	1	TYRO_HUMAN	TYR	HGNC	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN	.	UPI000004441A	SNV	TYR,missense_variant,p.Thr489Ile,ENST00000263321,;TYR,non_coding_transcript_exon_variant,,ENST00000528243,;CBX3P7,upstream_gene_variant,,ENST00000532876,;	1968	176	184	SUCCESS
WSB2	55884	.	GRCh37	12	118480654	118480654	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	69	0	ENST00000315436.3:c.551A>G	p.Asn184Ser	p.N184S	ENST00000315436	NM_018639.4	184	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9186.1	551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTATTCAGG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000319474	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000315436	Transcript	.	.	ENSG00000176871	19222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.58)	.	WSB2_HUMAN	WSB2	HGNC	B4DPV6_HUMAN,B4DFS1_HUMAN	.	UPI0000031565	SNV	WSB2,missense_variant,p.Asn186Ser,ENST00000535496,;WSB2,missense_variant,p.Asn186Ser,ENST00000537945,;WSB2,missense_variant,p.Asn201Ser,ENST00000441406,;WSB2,missense_variant,p.Asn184Ser,ENST00000315436,;WSB2,5_prime_UTR_variant,,ENST00000542304,;WSB2,intron_variant,,ENST00000544233,;WSB2,non_coding_transcript_exon_variant,,ENST00000536738,;WSB2,downstream_gene_variant,,ENST00000542726,;WSB2,5_prime_UTR_variant,,ENST00000543186,;WSB2,non_coding_transcript_exon_variant,,ENST00000536602,;WSB2,non_coding_transcript_exon_variant,,ENST00000540129,;WSB2,intron_variant,,ENST00000543218,;	693	69	52	SUCCESS
BORA	79866	.	GRCh37	13	73327942	73327942	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	109	303	0	ENST00000390667.5:c.1597C>G	p.Gln533Glu	p.Q533E	ENST00000390667	NM_024808.2	533	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9446.1	1597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCAAGCA	NONE	.	.	hmmpanther:PTHR14728:SF1,hmmpanther:PTHR14728	.	.	ENSP00000375082	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000390667	Transcript	.	.	ENSG00000136122	24724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious_low_confidence(0.03)	.	BORA_HUMAN	BORA	HGNC	B5LMG6_HUMAN	.	UPI0000224003	SNV	BORA,missense_variant,p.Gln533Glu,ENST00000390667,;BORA,missense_variant,p.Gln463Glu,ENST00000377815,;DIS3,downstream_gene_variant,,ENST00000377767,;DIS3,downstream_gene_variant,,ENST00000377780,;	1694	303	189	SUCCESS
C16orf78	123970	.	GRCh37	16	49407994	49407994	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	33	73	0	ENST00000299191.3:c.144T>A	p.Ala48=	p.A48=	ENST00000299191	NM_144602.2	48	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10738.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTCCCGA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15472	.	.	ENSP00000299191	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000299191	Transcript	.	.	ENSG00000166152	28479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP078_HUMAN	C16orf78	HGNC	.	.	UPI0000071013	SNV	C16orf78,synonymous_variant,p.%3D,ENST00000299191,;	261	73	55	SUCCESS
BRD7	29117	.	GRCh37	16	50368752	50368752	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	112	0	ENST00000394688.3:c.757del	p.Thr253LeufsTer59	p.T253Lfs*59	ENST00000394688		253	Act/ct	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS54007.1	757	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCGAGTTTTCT	NONE	.	.	Gene3D:1.20.920.10,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	deletion	BRD7,frameshift_variant,p.Thr253LeufsTer59,ENST00000394688,;BRD7,frameshift_variant,p.Thr253LeufsTer59,ENST00000394689,;BRD7,non_coding_transcript_exon_variant,,ENST00000475877,;	762	112	76	SUCCESS
LCAT	3931	.	GRCh37	16	67974099	67974099	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771761885	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	84	0	ENST00000264005.5:c.1031C>T	p.Pro344Leu	p.P344L	ENST00000264005	NM_000229.1	344	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10854.1	1031	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGGGCAGG	NONE	byFrequency	.	hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Gene3D:3.40.50.1820,Pfam_domain:PF02450,Superfamily_domains:SSF53474	.	.	ENSP00000264005	.	6/6	.	.	.	.	.	.	.	.	rs771761885	6/6	PASS	ENST00000264005	Transcript	.	.	ENSG00000213398	6522	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.082)	.	deleterious(0.02)	.	LCAT_HUMAN	LCAT	HGNC	J3QSE5_HUMAN	.	UPI0000000DE7	SNV	LCAT,missense_variant,p.Pro344Leu,ENST00000264005,;LCAT,intron_variant,,ENST00000570369,;SLC12A4,downstream_gene_variant,,ENST00000537830,;SLC12A4,downstream_gene_variant,,ENST00000541864,;LCAT,downstream_gene_variant,,ENST00000576450,;PSMB10,upstream_gene_variant,,ENST00000358514,;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000316341,;SLC12A4,downstream_gene_variant,,ENST00000338335,;PSMB10,upstream_gene_variant,,ENST00000574576,;LCAT,downstream_gene_variant,,ENST00000570980,;SLC12A4,downstream_gene_variant,,ENST00000422611,;LCAT,downstream_gene_variant,,ENST00000570396,;CTC-479C5.17,downstream_gene_variant,,ENST00000590594,;LCAT,3_prime_UTR_variant,,ENST00000573538,;PSMB10,upstream_gene_variant,,ENST00000570985,;PSMB10,upstream_gene_variant,,ENST00000570304,;LCAT,downstream_gene_variant,,ENST00000575277,;CTC-479C5.12,upstream_gene_variant,,ENST00000575231,;SLC12A4,downstream_gene_variant,,ENST00000570616,;LCAT,downstream_gene_variant,,ENST00000575467,;PSMB10,upstream_gene_variant,,ENST00000575556,;LCAT,downstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000570802,;CTC-479C5.12,upstream_gene_variant,,ENST00000573493,;	1061	84	54	SUCCESS
SNTB2	6645	.	GRCh37	16	69318053	69318053	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	107	0	ENST00000336278.4:c.1251C>T	p.Phe417=	p.F417=	ENST00000336278	NM_006750.3	417	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS10873.1	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCAGGGT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF8,SMART_domains:SM00233	.	.	ENSP00000338191	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000336278	Transcript	.	.	ENSG00000168807	11169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNTB2_HUMAN	SNTB2	HGNC	.	.	UPI0000135B21	SNV	SNTB2,synonymous_variant,p.%3D,ENST00000336278,;SNTB2,3_prime_UTR_variant,,ENST00000467311,;	1289	107	66	SUCCESS
ARMC7	79637	.	GRCh37	17	73106617	73106617	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141301558	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	103	0	ENST00000245543.1:c.151G>A	p.Glu51Lys	p.E51K	ENST00000245543	NM_024585.2	51	Gag/Aag	0	C:0.0005	.	.	.	.	A	E/K	protein_coding	YES	CCDS11714.1	151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACGAGTAT	NONE	byCluster	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR23315	.	C:0	ENSP00000245543	.	2/3	.	.	.	.	.	.	.	.	rs141301558	2/3	PASS	ENST00000245543	Transcript	.	.	ENSG00000125449	26168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.34)	.	ARMC7_HUMAN	ARMC7	HGNC	.	.	UPI000007003E	SNV	ARMC7,missense_variant,p.Glu51Lys,ENST00000584947,;ARMC7,missense_variant,p.Glu51Lys,ENST00000245543,;ARMC7,missense_variant,p.Glu51Lys,ENST00000582136,;ARMC7,missense_variant,p.Glu51Lys,ENST00000581078,;SLC16A5,downstream_gene_variant,,ENST00000450736,;SLC16A5,downstream_gene_variant,,ENST00000580123,;SLC16A5,downstream_gene_variant,,ENST00000329783,;ARMC7,upstream_gene_variant,,ENST00000579096,;	453	103	124	SUCCESS
ZNF799	90576	.	GRCh37	19	12502099	12502099	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	70	0	ENST00000430385.3:c.1113G>T	p.Gly371=	p.G371=	ENST00000430385	NM_001080821.2	371	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45989.1	1113	MUTECT|MUSE	.	GCTTTCCCACA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24379:SF16,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000411084	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000430385	Transcript	.	.	ENSG00000196466	28071	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN799_HUMAN	ZNF799	HGNC	M0R135_HUMAN,D3YTF2_HUMAN	.	UPI000016184E	SNV	ZNF799,synonymous_variant,p.%3D,ENST00000419318,;ZNF799,synonymous_variant,p.%3D,ENST00000430385,;CTD-3105H18.16,downstream_gene_variant,,ENST00000595562,;ZNF799,downstream_gene_variant,,ENST00000595766,;ZNF799,non_coding_transcript_exon_variant,,ENST00000460935,;CTD-3105H18.14,intron_variant,,ENST00000435033,;	1314	70	61	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13915863	13915863	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	44	0	ENST00000254323.2:c.613C>T	p.Gln205Ter	p.Q205*	ENST00000254323	NM_023072.2	205	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32924.1	613	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGCAGTAC	NONE	.	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,stop_gained,p.Gln205Ter,ENST00000254323,;ZSWIM4,upstream_gene_variant,,ENST00000440752,;ZSWIM4,upstream_gene_variant,,ENST00000590508,;	802	44	29	SUCCESS
CILP2	148113	.	GRCh37	19	19654191	19654191	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs541629092	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	47	141	0	ENST00000291495.5:c.1112G>A	p.Gly371Asp	p.G371D	ENST00000291495	NM_153221.2	371	gGc/gAc	0	.	A:0	.	A:0.0014	.	A	G/D	protein_coding	YES	CCDS12405.1	1112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGGCACTG	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	.	ENSP00000291495	A:0	7/8	.	.	.	.	.	.	.	.	rs541629092	7/8	PASS	ENST00000291495	Transcript	.	A:0.0002	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	A:0	tolerated(0.34)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Gly371Asp,ENST00000291495,;CILP2,missense_variant,p.Gly377Asp,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1197	142	138	SUCCESS
MATK	4145	.	GRCh37	19	3783153	3783153	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	63	0	ENST00000310132.6:c.647C>G	p.Thr216Ser	p.T216S	ENST00000310132	NM_139355.2	216	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS12113.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGGTCCCG	NONE	.	.	hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Gene3D:3.30.200.20,Superfamily_domains:SSF55550	.	.	ENSP00000378485	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.43)	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,missense_variant,p.Thr97Ser,ENST00000587180,;MATK,missense_variant,p.Thr216Ser,ENST00000585778,;MATK,missense_variant,p.Thr217Ser,ENST00000395045,;MATK,missense_variant,p.Thr175Ser,ENST00000395040,;MATK,missense_variant,p.Thr216Ser,ENST00000310132,;MATK,missense_variant,p.Thr83Ser,ENST00000588983,;MATK,missense_variant,p.Thr131Ser,ENST00000590493,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590028,;MATK,downstream_gene_variant,,ENST00000590821,;	988	63	71	SUCCESS
PTPRH	5794	.	GRCh37	19	55713508	55713508	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	45	173	1	ENST00000376350.3:c.1069G>C	p.Glu357Gln	p.E357Q	ENST00000376350	NM_002842.3	357	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS33110.1	1069	RADIA|MUTECT|MUSE	.	GGGTTCAAGTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000365528	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000376350	Transcript	.	.	ENSG00000080031	9672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.173)	.	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,missense_variant,p.Glu179Gln,ENST00000263434,;PTPRH,missense_variant,p.Glu357Gln,ENST00000376350,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,downstream_gene_variant,,ENST00000587662,;PTPRH,downstream_gene_variant,,ENST00000586310,;PTPRH,downstream_gene_variant,,ENST00000588370,;PTPRH,downstream_gene_variant,,ENST00000586852,;	1092	174	150	SUCCESS
ZNF549	256051	.	GRCh37	19	58048662	58048662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	123	1	ENST00000376233.3:c.290G>T	p.Gly97Val	p.G97V	ENST00000376233	NM_001199295.1	97	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS56106.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGGTCCTT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF30	.	.	ENSP00000365407	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376233	Transcript	.	.	ENSG00000121406	26632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.14)	.	ZN549_HUMAN	ZNF549	HGNC	.	.	UPI0000202D31	SNV	ZNF549,missense_variant,p.Gly84Val,ENST00000240719,;ZNF549,missense_variant,p.Gly97Val,ENST00000376233,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,downstream_gene_variant,,ENST00000457177,;ZNF550,downstream_gene_variant,,ENST00000325134,;ZNF550,downstream_gene_variant,,ENST00000447310,;ZNF550,downstream_gene_variant,,ENST00000376230,;	471	125	94	SUCCESS
OLFM3	118427	.	GRCh37	1	102290723	102290723	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	116	132	0	ENST00000338858.5:c.511A>G	p.Thr171Ala	p.T171A	ENST00000338858		171	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS30781.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGTGATTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192	.	.	ENSP00000359121	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.75)	.	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,missense_variant,p.Thr171Ala,ENST00000338858,;OLFM3,missense_variant,p.Thr151Ala,ENST00000370103,;OLFM3,missense_variant,p.Thr76Ala,ENST00000536598,;OLFM3,missense_variant,p.Thr171Ala,ENST00000359814,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;OLFM3,non_coding_transcript_exon_variant,,ENST00000468901,;	665	133	184	SUCCESS
TTLL10	254173	.	GRCh37	1	1132542	1132542	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	33	86	0	ENST00000379289.1:c.1588C>T	p.Pro530Ser	p.P530S	ENST00000379289	NM_001130045.1	530	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44036.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCCAGGT	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF72,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000368592	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000379290	Transcript	.	.	ENSG00000162571	26693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TTL10_HUMAN	TTLL10	HGNC	.	.	UPI0000205ADB	SNV	TTLL10,missense_variant,p.Pro530Ser,ENST00000379289,;TTLL10,missense_variant,p.Pro530Ser,ENST00000379290,;TTLL10,3_prime_UTR_variant,,ENST00000486379,;	1761	86	58	SUCCESS
PTCHD2	0	.	GRCh37	1	11584022	11584022	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	100	270	1	ENST00000294484.6:c.2386A>T	p.Ser796Cys	p.S796C	ENST00000294484	NM_020780.1	796	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS41247.1	2386	RADIA|VARSCANS	.	CCCACAGCCTG	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.702)	.	tolerated(0.06)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Ser796Cys,ENST00000389575,;PTCHD2,missense_variant,p.Ser796Cys,ENST00000294484,;	2524	271	159	SUCCESS
TDRD10	126668	.	GRCh37	1	154516919	154516919	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	40	232	0	ENST00000368480.3:c.723G>A	p.Glu241=	p.E241=	ENST00000368480		241	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS41406.1	723	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGGCTC	NONE	.	.	hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748	.	.	ENSP00000357465	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000368480	Transcript	.	.	ENSG00000163239	25316	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDR10_HUMAN	TDRD10	HGNC	.	.	UPI0001533DB6	SNV	TDRD10,synonymous_variant,p.%3D,ENST00000368482,;TDRD10,synonymous_variant,p.%3D,ENST00000368480,;UBE2Q1,downstream_gene_variant,,ENST00000292211,;TDRD10,non_coding_transcript_exon_variant,,ENST00000479937,;TDRD10,non_coding_transcript_exon_variant,,ENST00000462871,;TDRD10,intron_variant,,ENST00000468714,;	808	232	308	SUCCESS
KCNT2	343450	.	GRCh37	1	196394993	196394993	+	synonymous_variant	Silent	SNP	T	T	C	rs768992345	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	55	125	0	ENST00000294725.9:c.1110A>G	p.Leu370=	p.L370=	ENST00000294725		370	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1384.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAATAGGTC	NONE	byFrequency	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000294725	.	11/28	.	.	.	.	.	.	.	.	rs768992345,COSM1337465	11/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	SNV	KCNT2,synonymous_variant,p.%3D,ENST00000294725,;KCNT2,synonymous_variant,p.%3D,ENST00000367433,;KCNT2,synonymous_variant,p.%3D,ENST00000367431,;KCNT2,synonymous_variant,p.%3D,ENST00000609185,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,synonymous_variant,p.%3D,ENST00000466914,;	2026	125	198	SUCCESS
CRB1	23418	.	GRCh37	1	197390426	197390426	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	21	78	0	ENST00000367400.3:c.1468G>T	p.Gly490Cys	p.G490C	ENST00000367400	NM_201253.2	490	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS1390.1	1468	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGGCGAT	BUFFER|p.G490G|c.1470C>T|6,BUFFER|p.D491N|c.1471G>A|3	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24049,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000356370	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,missense_variant,p.Gly490Cys,ENST00000538660,;CRB1,missense_variant,p.Gly378Cys,ENST00000367399,;CRB1,missense_variant,p.Gly421Cys,ENST00000535699,;CRB1,missense_variant,p.Gly189Cys,ENST00000543483,;CRB1,missense_variant,p.Gly490Cys,ENST00000367400,;CRB1,5_prime_UTR_variant,,ENST00000544212,;CRB1,5_prime_UTR_variant,,ENST00000367397,;CRB1,non_coding_transcript_exon_variant,,ENST00000476483,;CRB1,upstream_gene_variant,,ENST00000480086,;CRB1,missense_variant,p.Gly490Cys,ENST00000484075,;	1603	78	133	SUCCESS
LAMB3	3914	.	GRCh37	1	209807908	209807908	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	118	99	0	ENST00000356082.4:c.448G>A	p.Ala150Thr	p.A150T	ENST00000356082	NM_000228.2	150	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1487.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCCAGGT	NONE	.	.	PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136	.	.	ENSP00000375778	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,missense_variant,p.Ala150Thr,ENST00000356082,;LAMB3,missense_variant,p.Ala150Thr,ENST00000415782,;LAMB3,missense_variant,p.Ala150Thr,ENST00000391911,;LAMB3,missense_variant,p.Ala150Thr,ENST00000367030,;	838	99	185	SUCCESS
TAS1R1	80835	.	GRCh37	1	6630983	6630983	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs373171619	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	58	0	ENST00000333172.6:c.206A>T	p.Asn69Ile	p.N69I	ENST00000333172	NM_138697.3	69	aAt/aTt	0	G:0	.	.	.	.	T	N/I	protein_coding	YES	CCDS81.1	206	MUTECT|MUSE	.	CTTCAATGAGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	.	G:0.0001	ENSP00000331867	.	2/6	.	.	.	.	.	.	.	.	rs373171619	2/6	PASS	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,missense_variant,p.Asn69Ile,ENST00000351136,;TAS1R1,missense_variant,p.Asn69Ile,ENST00000333172,;TAS1R1,missense_variant,p.Asn69Ile,ENST00000328191,;TAS1R1,upstream_gene_variant,,ENST00000411823,;TAS1R1,upstream_gene_variant,,ENST00000415267,;	399	58	56	SUCCESS
ADAMTS5	11096	.	GRCh37	21	28338041	28338041	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763623130	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	56	1	ENST00000284987.5:c.670G>A	p.Ala224Thr	p.A224T	ENST00000284987	NM_007038.3	224	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13579.1	670	MUTECT|MUSE	.	GTGCGCCGGAG	NONE	byFrequency	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37	.	.	ENSP00000284987	.	1/8	.	.	.	.	.	.	.	.	rs763623130	1/8	PASS	ENST00000284987	Transcript	.	.	ENSG00000154736	221	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.55)	.	ATS5_HUMAN	ADAMTS5	HGNC	.	.	UPI00001AEAC2	SNV	ADAMTS5,missense_variant,p.Ala224Thr,ENST00000284987,;	792	57	43	SUCCESS
PRR5	55615	.	GRCh37	22	45075540	45075540	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	49	0	ENST00000403581.1:c.-140C>T		p.*47*	ENST00000403581	NM_001198721.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56232.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCGCCCC	NONE	.	.	.	.	.	ENSP00000384848	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000403581	Transcript	.	.	ENSG00000186654	31682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR5_HUMAN	PRR5	HGNC	B1AHG4_HUMAN,B1AHG3_HUMAN	.	UPI00002327F8	SNV	PRR5,5_prime_UTR_variant,,ENST00000403581,;PRR5,intron_variant,,ENST00000006251,;PRR5,intron_variant,,ENST00000432186,;PRR5,intron_variant,,ENST00000492475,;PRR5,intron_variant,,ENST00000459857,;PRR5,intron_variant,,ENST00000492289,;	470	49	45	SUCCESS
AMER3	205147	.	GRCh37	2	131520231	131520231	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760195858	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	58	0	ENST00000321420.4:c.586C>T	p.Arg196Trp	p.R196W	ENST00000321420		196	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2164.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCGGCGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	rs760195858	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,missense_variant,p.Arg196Trp,ENST00000321420,;AMER3,missense_variant,p.Arg196Trp,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	696	58	56	SUCCESS
P2RY12	64805	.	GRCh37	3	151056067	151056067	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	100	0	ENST00000302632.3:c.567A>G	p.Ile189Met	p.I189M	ENST00000302632	NM_022788.4	189	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3159.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACTATTTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000307259	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302632	Transcript	.	.	ENSG00000169313	18124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.08)	.	P2Y12_HUMAN	P2RY12	HGNC	.	.	UPI0000001662	SNV	P2RY12,missense_variant,p.Ile189Met,ENST00000302632,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000273432,;MED12L,downstream_gene_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;P2RY12,non_coding_transcript_exon_variant,,ENST00000468596,;	867	100	91	SUCCESS
TTC14	151613	.	GRCh37	3	180324113	180324113	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749082960	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	61	173	0	ENST00000296015.4:c.1002G>C	p.Leu334Phe	p.L334F	ENST00000296015	NM_133462.3	334	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS3237.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTGGAAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000296015	.	8/12	.	.	.	.	.	.	.	.	rs749082960	8/12	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,missense_variant,p.Leu334Phe,ENST00000382584,;TTC14,missense_variant,p.Leu334Phe,ENST00000296015,;TTC14,missense_variant,p.Leu334Phe,ENST00000412756,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000491380,;TTC14,downstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000489868,;TTC14,downstream_gene_variant,,ENST00000495660,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,missense_variant,p.Leu334Phe,ENST00000470669,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000462895,;	1134	174	174	SUCCESS
ATP8A1	10396	.	GRCh37	4	42524292	42524292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	77	0	ENST00000381668.5:c.1832T>C	p.Val611Ala	p.V611A	ENST00000381668	NM_006095.2	611	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3466.1	1832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCACAGCA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Pfam_domain:PF12710,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660	.	.	ENSP00000371084	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.18)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Val611Ala,ENST00000381668,;ATP8A1,missense_variant,p.Val596Ala,ENST00000264449,;	2064	77	84	SUCCESS
ATP10D	57205	.	GRCh37	4	47565604	47565604	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	119	1	ENST00000273859.3:c.2675C>T	p.Thr892Ile	p.T892I	ENST00000273859	NM_020453.3	892	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS3476.1	2675	MUTECT|MUSE	.	TGCTACTGGCA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Gene3D:3.40.1110.10,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF81660	.	.	ENSP00000273859	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,missense_variant,p.Thr892Ile,ENST00000273859,;AC092597.3,upstream_gene_variant,,ENST00000508081,;ATP10D,3_prime_UTR_variant,,ENST00000503288,;	2944	120	122	SUCCESS
KIT	3815	.	GRCh37	4	55569979	55569979	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	81	206	0	ENST00000288135.5:c.846T>C	p.Val282=	p.V282=	ENST00000288135	NM_000222.2	282	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3496.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTTAATGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF00047,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00409,PIRSF_domain:PIRSF500951,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000288135	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,synonymous_variant,p.%3D,ENST00000412167,;KIT,synonymous_variant,p.%3D,ENST00000288135,;	943	206	132	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6037770	6037770	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	130	0	ENST00000409021.3:c.2240G>A	p.Gly747Asp	p.G747D	ENST00000409021	NM_001099433.1	747	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS47005.1	2240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCGGCC	NONE	.	.	hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	deleterious(0.02)	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,missense_variant,p.Gly747Asp,ENST00000409021,;JAKMIP1,missense_variant,p.Gly562Asp,ENST00000409371,;	2690	130	110	SUCCESS
ALB	213	.	GRCh37	4	74272457	74272458	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	62	0	ENST00000295897.4:c.249_250delinsC	p.Glu84LysfsTer57	p.E84Kfs*57	ENST00000295897	NM_000477.5	83	gcTGaa/gcCaa	0	.	.	.	.	.	C	AE/AX	protein_coding	YES	CCDS3555.1	249-250	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GTCAGCTGAAAAT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	substitution	ALB,frameshift_variant,p.Glu84LysfsTer57,ENST00000509063,;ALB,frameshift_variant,p.Glu84LysfsTer57,ENST00000295897,;ALB,frameshift_variant,p.Glu86LysfsTer57,ENST00000441319,;ALB,frameshift_variant,p.Leu4ProfsTer4,ENST00000503124,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000507673,;	338-339	62	59	SUCCESS
UNC5C	8633	.	GRCh37	4	96141175	96141175	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1256744960	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	91	296	0	ENST00000453304.1:c.1261G>A	p.Gly421Arg	p.G421R	ENST00000453304	NM_003728.3	421	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS3643.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCATTGA	NONE	.	.	hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7	.	.	ENSP00000406022	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000453304	Transcript	.	.	ENSG00000182168	12569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.04)	.	UNC5C_HUMAN	UNC5C	HGNC	Q4W5H4_HUMAN	.	UPI000004E6A5	SNV	UNC5C,missense_variant,p.Gly440Arg,ENST00000506749,;UNC5C,missense_variant,p.Gly440Arg,ENST00000513796,;UNC5C,missense_variant,p.Gly421Arg,ENST00000453304,;	1610	296	180	SUCCESS
CCT5	22948	.	GRCh37	5	10250466	10250466	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	42	154	0	ENST00000280326.4:c.14G>T	p.Gly5Val	p.G5V	ENST00000280326	NM_012073.3	5	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3877.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGGACCC	NONE	.	.	hmmpanther:PTHR11353	.	.	ENSP00000280326	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000280326	Transcript	1	.	ENSG00000150753	1618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0.01)	.	TCPE_HUMAN	CCT5	HGNC	Q9HB74_HUMAN,Q9BU08_HUMAN,Q96GI1_HUMAN,B7ZAR1_HUMAN	.	UPI0000001C34	SNV	CCT5,missense_variant,p.Gly5Val,ENST00000280326,;CCT5,missense_variant,p.Gly5Val,ENST00000515390,;CCT5,intron_variant,,ENST00000503026,;FAM173B,upstream_gene_variant,,ENST00000511437,;FAM173B,upstream_gene_variant,,ENST00000280330,;CCT5,upstream_gene_variant,,ENST00000506600,;FAM173B,upstream_gene_variant,,ENST00000510047,;CCT5,upstream_gene_variant,,ENST00000515676,;CTD-2256P15.1,downstream_gene_variant,,ENST00000509915,;FAM173B,upstream_gene_variant,,ENST00000510052,;CCT5,stop_gained,p.Gly38Ter,ENST00000511700,;CCT5,missense_variant,p.Gly5Val,ENST00000512975,;CCT5,non_coding_transcript_exon_variant,,ENST00000423695,;CCT5,non_coding_transcript_exon_variant,,ENST00000510326,;CCT5,non_coding_transcript_exon_variant,,ENST00000508451,;FAM173B,upstream_gene_variant,,ENST00000506108,;CCT5,upstream_gene_variant,,ENST00000503454,;FAM173B,upstream_gene_variant,,ENST00000504390,;FAM173B,upstream_gene_variant,,ENST00000508553,;	434	154	127	SUCCESS
REEP5	7905	.	GRCh37	5	112238198	112238198	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	20	106	0	ENST00000379638.4:c.230G>A	p.Ser77Asn	p.S77N	ENST00000379638	NM_005669.4	77	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS4109.2	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACTCTCT	NONE	.	.	hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF41,Pfam_domain:PF03134	.	.	ENSP00000368959	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000379638	Transcript	.	.	ENSG00000129625	30077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	REEP5_HUMAN	REEP5	HGNC	.	.	UPI00001B24A5	SNV	REEP5,missense_variant,p.Ser77Asn,ENST00000545426,;REEP5,missense_variant,p.Ser68Asn,ENST00000261482,;REEP5,missense_variant,p.Ser77Asn,ENST00000379638,;REEP5,missense_variant,p.Ser77Asn,ENST00000513339,;REEP5,intron_variant,,ENST00000504247,;AC008536.1,downstream_gene_variant,,ENST00000579867,;CTC-487M23.7,downstream_gene_variant,,ENST00000607284,;REEP5,non_coding_transcript_exon_variant,,ENST00000474542,;REEP5,missense_variant,p.Ser91Asn,ENST00000511865,;REEP5,non_coding_transcript_exon_variant,,ENST00000497856,;	579	106	122	SUCCESS
FAM134B	0	.	GRCh37	5	16477816	16477816	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	27	156	0	ENST00000306320.9:c.955T>A	p.Phe319Ile	p.F319I	ENST00000306320	NM_001034850.2	319	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS43304.1	955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAAGGTCC	NONE	.	.	.	.	.	ENSP00000304642	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000306320	Transcript	1	.	ENSG00000154153	25964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	F134B_HUMAN	FAM134B	HGNC	.	.	UPI000006D7DB	SNV	FAM134B,missense_variant,p.Phe178Ile,ENST00000399793,;FAM134B,missense_variant,p.Phe319Ile,ENST00000306320,;FAM134B,non_coding_transcript_exon_variant,,ENST00000509977,;FAM134B,missense_variant,p.Phe39Ile,ENST00000510362,;	1042	156	136	SUCCESS
TENM2	57451	.	GRCh37	5	167379806	167379806	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774385916	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	64	0	ENST00000518659.1:c.926G>A	p.Ser309Asn	p.S309N	ENST00000518659	NM_001122679.1	309	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	.	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGCAACG	NONE	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Pfam_domain:PF06484	.	.	ENSP00000429430	.	4/29	.	.	.	.	.	.	.	.	rs774385916	4/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Ser309Asn,ENST00000545108,;TENM2,missense_variant,p.Ser118Asn,ENST00000520394,;TENM2,missense_variant,p.Ser188Asn,ENST00000519204,;TENM2,missense_variant,p.Ser309Asn,ENST00000518659,;TENM2,missense_variant,p.Ser142Asn,ENST00000403607,;CTC-353G13.1,intron_variant,,ENST00000523050,;TENM2,non_coding_transcript_exon_variant,,ENST00000518693,;TENM2,non_coding_transcript_exon_variant,,ENST00000520393,;TENM2,downstream_gene_variant,,ENST00000517586,;TENM2,non_coding_transcript_exon_variant,,ENST00000522488,;	965	64	81	SUCCESS
MROH2B	133558	.	GRCh37	5	41015522	41015522	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754833007	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	61	0	ENST00000399564.4:c.2943C>A	p.Asp981Glu	p.D981E	ENST00000399564	NM_173489.4	981	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS47202.1	2943	MUTECT|MUSE	.	TGCACGTCATC	NONE	byFrequency	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000382476	.	29/42	.	.	.	.	.	.	.	.	rs754833007	29/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.647)	.	tolerated(0.08)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Asp536Glu,ENST00000506092,;MROH2B,missense_variant,p.Asp981Glu,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	3394	61	63	SUCCESS
ITGA2	3673	.	GRCh37	5	52367816	52367816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	103	0	ENST00000296585.5:c.2284C>A	p.Leu762Met	p.L762M	ENST00000296585	NM_002203.3	762	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS3957.1	2284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTCTGGAA	NONE	.	.	Prints_domain:PR01185,Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23	.	.	ENSP00000296585	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.05)	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,missense_variant,p.Leu762Met,ENST00000296585,;ITGA2,missense_variant,p.Leu762Met,ENST00000510722,;ITGA2,missense_variant,p.Leu762Met,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;	2427	103	96	SUCCESS
GPR98	0	.	GRCh37	5	90159649	90159649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	35	99	0	ENST00000405460.2:c.17831T>C	p.Met5944Thr	p.M5944T	ENST00000405460	NM_032119.3	5944	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS47246.1	17831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACATGATGG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF00002,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,PROSITE_profiles:PS50261	.	.	ENSP00000384582	.	83/90	.	.	.	.	.	.	.	.	.	83/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Met5944Thr,ENST00000405460,;GPR98,missense_variant,p.Met1605Thr,ENST00000425867,;GPR98,non_coding_transcript_exon_variant,,ENST00000503852,;	17927	99	61	SUCCESS
PRSS16	10279	.	GRCh37	6	27223091	27223091	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	49	108	0	ENST00000230582.3:c.1542C>A	p.Val514=	p.V514=	ENST00000230582	NM_005865.3	514	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4623.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCTGAAT	BUFFER|p.E507_K511delESQIK|c.1520_1534del15|5	.	.	.	.	.	ENSP00000230582	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,synonymous_variant,p.%3D,ENST00000230582,;PRSS16,synonymous_variant,p.%3D,ENST00000421826,;PRSS16,downstream_gene_variant,,ENST00000485993,;PRSS16,downstream_gene_variant,,ENST00000475106,;PRSS16,non_coding_transcript_exon_variant,,ENST00000468138,;PRSS16,non_coding_transcript_exon_variant,,ENST00000459736,;PRSS16,non_coding_transcript_exon_variant,,ENST00000471463,;PRSS16,non_coding_transcript_exon_variant,,ENST00000484493,;PRSS16,non_coding_transcript_exon_variant,,ENST00000478690,;PRSS16,non_coding_transcript_exon_variant,,ENST00000377456,;PRSS16,3_prime_UTR_variant,,ENST00000454665,;PRSS16,non_coding_transcript_exon_variant,,ENST00000481125,;PRSS16,non_coding_transcript_exon_variant,,ENST00000492575,;PRSS16,non_coding_transcript_exon_variant,,ENST00000495683,;PRSS16,non_coding_transcript_exon_variant,,ENST00000485603,;PRSS16,non_coding_transcript_exon_variant,,ENST00000488649,;PRSS16,downstream_gene_variant,,ENST00000466364,;PRSS16,downstream_gene_variant,,ENST00000470870,;PRSS16,downstream_gene_variant,,ENST00000468930,;PRSS16,downstream_gene_variant,,ENST00000462664,;	1557	108	168	SUCCESS
TMEM30A	55754	.	GRCh37	6	75974997	75974997	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs897424181	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	51	61	0	ENST00000230461.6:c.403G>A	p.Val135Met	p.V135M	ENST00000230461	NM_018247.3	135	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS4983.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACGTAAC	NONE	.	.	hmmpanther:PTHR10926,hmmpanther:PTHR10926:SF17,Pfam_domain:PF03381,PIRSF_domain:PIRSF015840	.	.	ENSP00000230461	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000230461	Transcript	.	.	ENSG00000112697	16667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.09)	.	CC50A_HUMAN	TMEM30A	HGNC	E5RG19_HUMAN	.	UPI0000071AE1	SNV	TMEM30A,missense_variant,p.Val16Met,ENST00000370050,;TMEM30A,missense_variant,p.Val135Met,ENST00000230461,;TMEM30A,missense_variant,p.Val99Met,ENST00000475111,;TMEM30A,missense_variant,p.Val16Met,ENST00000518161,;	733	61	75	SUCCESS
SLC13A4	26266	.	GRCh37	7	135376542	135376542	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	30	0	ENST00000354042.4:c.1221-149G>A		p.*407*	ENST00000354042	NM_012450.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5840.1	.	MUTECT|MUSE	.	TGCCACGCTAT	NONE	.	.	.	.	.	ENSP00000297282	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,intron_variant,,ENST00000354042,;C7orf73,non_coding_transcript_exon_variant,,ENST00000509448,;C7orf73,non_coding_transcript_exon_variant,,ENST00000422968,;SLC13A4,intron_variant,,ENST00000471405,;	.	30	35	SUCCESS
EFR3A	23167	.	GRCh37	8	133008691	133008691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	44	63	0	ENST00000254624.5:c.2104A>G	p.Thr702Ala	p.T702A	ENST00000254624	NM_015137.4	702	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS34942.2	2104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACACCGTA	NONE	.	.	hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1	.	.	ENSP00000254624	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000254624	Transcript	.	.	ENSG00000132294	28970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	tolerated(0.1)	.	EFR3A_HUMAN	EFR3A	HGNC	E5RJS1_HUMAN,B4DZ89_HUMAN	.	UPI00001C1E8F	SNV	EFR3A,missense_variant,p.Thr702Ala,ENST00000254624,;EFR3A,missense_variant,p.Thr666Ala,ENST00000519656,;EFR3A,missense_variant,p.Thr702Ala,ENST00000334503,;EFR3A,non_coding_transcript_exon_variant,,ENST00000519920,;EFR3A,upstream_gene_variant,,ENST00000521940,;EFR3A,non_coding_transcript_exon_variant,,ENST00000523074,;	2329	63	72	SUCCESS
RPL8	6132	.	GRCh37	8	146016689	146016689	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	69	0	ENST00000262584.3:c.472A>T	p.Ile158Phe	p.I158F	ENST00000262584	NM_000973.3	158	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS6433.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATAACCT	NONE	.	.	HAMAP:MF_01320_A,hmmpanther:PTHR13691,hmmpanther:PTHR13691:SF16,Gene3D:2.30.30.30,Pfam_domain:PF03947,PIRSF_domain:PIRSF002158,Superfamily_domains:SSF50104	.	.	ENSP00000262584	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000262584	Transcript	.	.	ENSG00000161016	10368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.3)	.	RL8_HUMAN	RPL8	HGNC	G3V1A1_HUMAN,E9PKZ0_HUMAN	.	UPI000000419E	SNV	RPL8,missense_variant,p.Ile49Phe,ENST00000527914,;RPL8,missense_variant,p.Ile158Phe,ENST00000394920,;RPL8,missense_variant,p.Ile158Phe,ENST00000262584,;RPL8,missense_variant,p.Ile137Phe,ENST00000533397,;RPL8,missense_variant,p.Ile158Phe,ENST00000528957,;RPL8,missense_variant,p.Ile158Phe,ENST00000532702,;ZNF34,upstream_gene_variant,,ENST00000534445,;ZNF34,upstream_gene_variant,,ENST00000429371,;ZNF34,upstream_gene_variant,,ENST00000343459,;RPL8,non_coding_transcript_exon_variant,,ENST00000528296,;RPL8,non_coding_transcript_exon_variant,,ENST00000529163,;RPL8,missense_variant,p.Ile158Phe,ENST00000529920,;RPL8,3_prime_UTR_variant,,ENST00000531975,;RPL8,non_coding_transcript_exon_variant,,ENST00000525232,;RPL8,non_coding_transcript_exon_variant,,ENST00000526668,;RPL8,downstream_gene_variant,,ENST00000531767,;RPL8,upstream_gene_variant,,ENST00000534781,;ZNF34,upstream_gene_variant,,ENST00000527740,;	705	69	106	SUCCESS
ADAM18	8749	.	GRCh37	8	39467002	39467002	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	38	46	0	ENST00000265707.5:c.268-2A>T		p.X90_splice	ENST00000265707	NM_014237.2	90		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGATGC	NONE	.	.	.	.	.	ENSP00000265707	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	HIGH	4/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,splice_acceptor_variant,,ENST00000520772,;ADAM18,splice_acceptor_variant,,ENST00000541111,;ADAM18,splice_acceptor_variant,,ENST00000265707,;ADAM18,splice_acceptor_variant,,ENST00000379866,;ADAM18,splice_acceptor_variant,,ENST00000520559,;ADAM18,splice_acceptor_variant,,ENST00000520001,;ADAM18,splice_acceptor_variant,,ENST00000520087,;	.	46	64	SUCCESS
PRKDC	5591	.	GRCh37	8	48846651	48846651	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	.	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	58	45	0	ENST00000314191.2:c.1498-1G>A		p.X500_splice	ENST00000314191	NM_006904.6	500		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCTGGCC	NONE	.	.	.	.	.	ENSP00000313420	.	.	.	.	.	.	.	.	.	.	COSM1314093,COSM1314092	.	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	14/86	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,splice_acceptor_variant,,ENST00000338368,;PRKDC,splice_acceptor_variant,,ENST00000314191,;PRKDC,splice_acceptor_variant,,ENST00000518216,;PRKDC,splice_acceptor_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000541488,;PRKDC,downstream_gene_variant,,ENST00000535375,;	.	45	81	SUCCESS
KCNT1	57582	.	GRCh37	9	138662763	138662763	+	synonymous_variant	Silent	SNP	G	G	T	rs780892917	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	36	197	0	ENST00000488444.2:c.1773G>T	p.Pro591=	p.P591=	ENST00000488444		591	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS35175.2	1830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGGGGCC	NONE	byFrequency	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	18/31	.	.	.	.	.	.	.	.	rs780892917	18/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,synonymous_variant,p.%3D,ENST00000486577,;KCNT1,synonymous_variant,p.%3D,ENST00000490355,;KCNT1,synonymous_variant,p.%3D,ENST00000263604,;KCNT1,synonymous_variant,p.%3D,ENST00000491806,;KCNT1,synonymous_variant,p.%3D,ENST00000298480,;KCNT1,synonymous_variant,p.%3D,ENST00000487664,;KCNT1,synonymous_variant,p.%3D,ENST00000371757,;KCNT1,synonymous_variant,p.%3D,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	1897	197	189	SUCCESS
TUSC1	286319	.	GRCh37	9	25678668	25678668	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	64	0	ENST00000358022.3:c.-349G>A		p.*117*	ENST00000358022	NM_001004125.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34999.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCCGTCCT	NONE	.	.	.	.	.	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,5_prime_UTR_variant,,ENST00000358022,;	189	64	88	SUCCESS
PTPRD	5789	.	GRCh37	9	8341939	8341939	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	34	73	0	ENST00000356435.5:c.4701T>C	p.Asp1567=	p.D1567=	ENST00000356435		1567	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS43786.1	4701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCATCTAT	NONE	.	.	Superfamily_domains:SSF52799,SMART_domains:SM00194,SMART_domains:SM00404,Pfam_domain:PF00102,Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50056,PROSITE_profiles:PS50055	.	.	ENSP00000370593	.	37/43	.	.	.	.	.	.	.	.	.	37/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,synonymous_variant,p.%3D,ENST00000397617,;PTPRD,synonymous_variant,p.%3D,ENST00000486161,;PTPRD,synonymous_variant,p.%3D,ENST00000358503,;PTPRD,synonymous_variant,p.%3D,ENST00000360074,;PTPRD,synonymous_variant,p.%3D,ENST00000381196,;PTPRD,synonymous_variant,p.%3D,ENST00000397606,;PTPRD,synonymous_variant,p.%3D,ENST00000356435,;PTPRD,synonymous_variant,p.%3D,ENST00000355233,;PTPRD,synonymous_variant,p.%3D,ENST00000397611,;PTPRD,synonymous_variant,p.%3D,ENST00000540109,;PTPRD,synonymous_variant,p.%3D,ENST00000537002,;	5245	73	81	SUCCESS
PALD1	27143	.	GRCh37	10	72326463	72326463	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	23	0	ENST00000263563.6:c.2545C>T	p.Pro849Ser	p.P849S	ENST00000263563	NM_014431.2	849	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS31215.1	2545	RADIA|MUTECT|MUSE	.	TCGAGCCCTCT	NONE	.	.	hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339	.	.	ENSP00000263563	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000263563	Transcript	.	.	ENSG00000107719	23530	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	tolerated_low_confidence(0.07)	.	PALD_HUMAN	PALD1	HGNC	.	.	UPI00001C1EDC	SNV	PALD1,missense_variant,p.Pro849Ser,ENST00000263563,;	2813	23	11	SUCCESS
IL31	386653	.	GRCh37	12	122657036	122657036	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	95	0	ENST00000377035.1:c.418A>G	p.Ile140Val	p.I140V	ENST00000377035	NM_001014336.1	140	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31919.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATAGTCA	NONE	.	.	Pfam_domain:PF15209	.	.	ENSP00000366234	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377035	Transcript	.	.	ENSG00000204671	19372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.147)	.	tolerated(0.41)	.	IL31_HUMAN	IL31	HGNC	.	.	UPI00003BF6FE	SNV	IL31,missense_variant,p.Ile140Val,ENST00000377035,;LRRC43,intron_variant,,ENST00000537729,;	445	95	68	SUCCESS
SOX5	6660	.	GRCh37	12	24048957	24048957	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	46	0	ENST00000451604.2:c.40A>G	p.Met14Val	p.M14V	ENST00000451604		14	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8699.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATCCTGG	NONE	.	.	.	.	.	ENSP00000398273	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000451604	Transcript	.	.	ENSG00000134532	11201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious_low_confidence(0)	.	SOX5_HUMAN	SOX5	HGNC	T2CYZ2_HUMAN,F5GWL1_HUMAN	.	UPI000007405E	SNV	SOX5,start_lost,p.Met1?,ENST00000309359,;SOX5,start_lost,p.Met1?,ENST00000381381,;SOX5,start_lost,p.Met1?,ENST00000546136,;SOX5,start_lost,p.Met1?,ENST00000541536,;SOX5,start_lost,p.Met1?,ENST00000538083,;SOX5,missense_variant,p.Met4Val,ENST00000541847,;SOX5,missense_variant,p.Met14Val,ENST00000441133,;SOX5,missense_variant,p.Met14Val,ENST00000537393,;SOX5,missense_variant,p.Met14Val,ENST00000451604,;SOX5,missense_variant,p.Met4Val,ENST00000545921,;SOX5,missense_variant,p.Met4Val,ENST00000367206,;	142	46	45	SUCCESS
DACH1	1602	.	GRCh37	13	72440337	72440337	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	33	84	0	ENST00000305425.4:c.571A>G	p.Lys191Glu	p.K191E	ENST00000305425	NM_080759.4	191	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS41899.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTGCACT	NONE	.	.	hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577,Gene3D:3.10.260.20,Pfam_domain:PF02437,Superfamily_domains:SSF46955	.	.	ENSP00000304994	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.458)	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,missense_variant,p.Lys191Glu,ENST00000305425,;DACH1,missense_variant,p.Lys191Glu,ENST00000313174,;DACH1,missense_variant,p.Lys191Glu,ENST00000354591,;DACH1,missense_variant,p.Lys191Glu,ENST00000359684,;	994	84	45	SUCCESS
PSMB11	122706	.	GRCh37	14	23512059	23512059	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368929459	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	45	0	ENST00000408907.2:c.625G>A	p.Val209Met	p.V209M	ENST00000408907	NM_001099780.1	209	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS41923.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGTGGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599:SF48,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	A:0.0002	ENSP00000386212	.	1/1	.	.	.	.	.	.	.	.	rs368929459	1/1	PASS	ENST00000408907	Transcript	.	.	ENSG00000222028	31963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PSB11_HUMAN	PSMB11	HGNC	.	.	UPI00001D7B85	SNV	PSMB11,missense_variant,p.Val209Met,ENST00000408907,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000487137,;CDH24,downstream_gene_variant,,ENST00000397359,;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000485922,;	684	45	33	SUCCESS
TSSK4	283629	.	GRCh37	14	24675036	24675036	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs186824990	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	57	0	ENST00000287913.6:c.-94T>G		p.*32*	ENST00000287913				0	.	C:0.0113	.	C:0	.	G	.	protein_coding	YES	CCDS53890.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTTTGAT	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000339179	C:0	1/4	.	.	.	.	.	.	.	.	rs186824990	1/4	PASS	ENST00000339917	Transcript	.	C:0.0030	ENSG00000139908	19825	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	TSSK4_HUMAN	TSSK4	HGNC	.	.	UPI0000407A85	SNV	TSSK4,5_prime_UTR_variant,,ENST00000339917,;TSSK4,5_prime_UTR_variant,,ENST00000287913,;TSSK4,intron_variant,,ENST00000556621,;TM9SF1,intron_variant,,ENST00000530611,;TM9SF1,intron_variant,,ENST00000556387,;CHMP4A,downstream_gene_variant,,ENST00000530996,;CHMP4A,downstream_gene_variant,,ENST00000609024,;TSSK4,upstream_gene_variant,,ENST00000553766,;TSSK4,upstream_gene_variant,,ENST00000555092,;CHMP4A,downstream_gene_variant,,ENST00000347519,;TSSK4,upstream_gene_variant,,ENST00000428351,;CHMP4A,downstream_gene_variant,,ENST00000533011,;CHMP4A,downstream_gene_variant,,ENST00000542700,;TSSK4,intron_variant,,ENST00000554420,;CHMP4A,downstream_gene_variant,,ENST00000524955,;CHMP4A,downstream_gene_variant,,ENST00000534106,;CHMP4A,downstream_gene_variant,,ENST00000533523,;AL136419.6,downstream_gene_variant,,ENST00000565988,;CHMP4A,downstream_gene_variant,,ENST00000552620,;	111	57	54	SUCCESS
ATG2B	55102	.	GRCh37	14	96779699	96779699	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1595305821	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	211	135	359	0	ENST00000359933.4:c.3716A>G	p.His1239Arg	p.H1239R	ENST00000359933	NM_018036.5	1239	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS9944.2	3716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATGAAAA	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	24/42	.	.	.	.	.	.	.	.	.	24/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.His1239Arg,ENST00000359933,;ATG2B,downstream_gene_variant,,ENST00000488421,;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;	4610	359	347	SUCCESS
FRMD5	84978	.	GRCh37	15	44194417	44194418	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	65	0	ENST00000417257.1:c.594dup	p.Ala199SerfsTer15	p.A199Sfs*15	ENST00000417257	NM_032892.3	198	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS10107.2	594-595	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTGCTTTTC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935	.	.	ENSP00000403067	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000417257	Transcript	.	.	ENSG00000171877	28214	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FRMD5_HUMAN	FRMD5	HGNC	A8K1U8_HUMAN	.	UPI00001A9475	insertion	FRMD5,frameshift_variant,p.Ala199SerfsTer15,ENST00000417257,;FRMD5,frameshift_variant,p.Ala199SerfsTer15,ENST00000402883,;FRMD5,frameshift_variant,p.Ala104SerfsTer15,ENST00000558108,;FRMD5,frameshift_variant,p.Ala110SerfsTer15,ENST00000484674,;FRMD5,frameshift_variant,p.Ala165SerfsTer15,ENST00000449926,;FRMD5,3_prime_UTR_variant,,ENST00000458630,;FRMD5,3_prime_UTR_variant,,ENST00000421674,;FRMD5,non_coding_transcript_exon_variant,,ENST00000479319,;FRMD5,intron_variant,,ENST00000451277,;	771-772	65	71	SUCCESS
EIF3J	8669	.	GRCh37	15	44849749	44849749	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	63	0	ENST00000261868.5:c.472G>T	p.Glu158Ter	p.E158*	ENST00000261868	NM_003758.2	158	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10111.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAGAGTTT	NONE	.	.	HAMAP:MF_03009,hmmpanther:PTHR21681,Pfam_domain:PF08597,Gene3D:3bpjB00	.	.	ENSP00000261868	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000261868	Transcript	.	.	ENSG00000104131	3270	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF3J_HUMAN	EIF3J	HGNC	.	.	UPI000012D2F9	SNV	EIF3J,stop_gained,p.Glu158Ter,ENST00000261868,;EIF3J,stop_gained,p.Glu37Ter,ENST00000536248,;EIF3J,stop_gained,p.Glu109Ter,ENST00000424492,;EIF3J,intron_variant,,ENST00000535391,;RP11-151N17.1,upstream_gene_variant,,ENST00000558006,;EIF3J,stop_gained,p.Glu17Ter,ENST00000558353,;EIF3J,non_coding_transcript_exon_variant,,ENST00000558053,;EIF3J,downstream_gene_variant,,ENST00000558227,;	610	63	71	SUCCESS
CEP152	22995	.	GRCh37	15	49033772	49033772	+	intron_variant	Intron	SNP	C	C	G	rs761780163	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	62	0	ENST00000380950.2:c.4093+26G>C		p.*1365*	ENST00000380950	NM_001194998.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58361.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACCATTT	NONE	byFrequency	.	.	.	.	ENSP00000370337	.	.	.	.	.	.	.	.	.	.	rs761780163	.	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	MODIFIER	26/26	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,3_prime_UTR_variant,,ENST00000325747,;CEP152,intron_variant,,ENST00000380950,;CEP152,intron_variant,,ENST00000399334,;CEP152,intron_variant,,ENST00000561245,;	.	62	64	SUCCESS
ADAD2	161931	.	GRCh37	16	84228736	84228736	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	34	115	0	ENST00000315906.5:c.669G>T	p.Leu223=	p.L223=	ENST00000315906	NM_001145400.1	223	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10944.1	885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGTTGGA	NONE	.	.	hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,SMART_domains:SM00552	.	.	ENSP00000268624	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,synonymous_variant,p.%3D,ENST00000315906,;ADAD2,synonymous_variant,p.%3D,ENST00000567685,;ADAD2,synonymous_variant,p.%3D,ENST00000268624,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000569834,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564169,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;	978	115	53	SUCCESS
UBTF	7343	.	GRCh37	17	42289011	42289011	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	23	0	ENST00000302904.4:c.1010A>C	p.Gln337Pro	p.Q337P	ENST00000302904		337	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS11480.1	1010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGGGAC	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF142,Gene3D:1.10.30.10,Pfam_domain:PF09011,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000302640	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000302904	Transcript	.	.	ENSG00000108312	12511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.247)	.	tolerated(0.06)	.	UBF1_HUMAN	UBTF	HGNC	Q9BQR2_HUMAN,E9PLT2_HUMAN,B4DLB0_HUMAN	.	UPI000013797C	SNV	UBTF,missense_variant,p.Gln300Pro,ENST00000393606,;UBTF,missense_variant,p.Gln337Pro,ENST00000302904,;UBTF,missense_variant,p.Gln337Pro,ENST00000529383,;UBTF,missense_variant,p.Gln337Pro,ENST00000436088,;UBTF,missense_variant,p.Gln300Pro,ENST00000533177,;UBTF,missense_variant,p.Gln300Pro,ENST00000526094,;UBTF,missense_variant,p.Gln300Pro,ENST00000527034,;UBTF,missense_variant,p.Gln300Pro,ENST00000343638,;UBTF,upstream_gene_variant,,ENST00000529373,;UBTF,downstream_gene_variant,,ENST00000530828,;CTB-175E5.7,intron_variant,,ENST00000586560,;UBTF,downstream_gene_variant,,ENST00000537550,;UBTF,downstream_gene_variant,,ENST00000529042,;UBTF,upstream_gene_variant,,ENST00000529947,;UBTF,upstream_gene_variant,,ENST00000531368,;	1503	23	19	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14763706	14763706	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	71	1	ENST00000358984.4:c.842C>T	p.Pro281Leu	p.P281L	ENST00000358984	NM_001145029.1	281	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54182.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACCTGATG	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147	.	.	ENSP00000351875	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	deleterious(0.02)	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,missense_variant,p.Pro281Leu,ENST00000447268,;ANKRD30B,missense_variant,p.Pro281Leu,ENST00000358984,;RNU6-1210P,downstream_gene_variant,,ENST00000363775,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Pro281Leu,ENST00000580206,;	1022	72	57	SUCCESS
NEDD4L	23327	.	GRCh37	18	55816800	55816800	+	intron_variant	Intron	SNP	C	C	T	rs769775098	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	25	90	0	ENST00000400345.3:c.49-16220C>T		p.*17*	ENST00000400345	NM_001144967.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45872.1	.	RADIA|MUTECT|MUSE	.	ACACTCGGTAA	NONE	.	.	.	.	.	ENSP00000383199	.	.	.	.	.	.	.	.	.	.	rs769775098	.	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	MODIFIER	1/30	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,splice_region_variant,,ENST00000435432,;NEDD4L,intron_variant,,ENST00000256832,;NEDD4L,intron_variant,,ENST00000592846,;NEDD4L,intron_variant,,ENST00000586263,;NEDD4L,intron_variant,,ENST00000357895,;NEDD4L,intron_variant,,ENST00000400345,;NEDD4L,intron_variant,,ENST00000456986,;NEDD4L,intron_variant,,ENST00000356462,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,intron_variant,,ENST00000256830,;NEDD4L,intron_variant,,ENST00000382850,;NEDD4L,intron_variant,,ENST00000590694,;NEDD4L,intron_variant,,ENST00000591579,;NEDD4L,intron_variant,,ENST00000585363,;NEDD4L,intron_variant,,ENST00000587547,;NEDD4L,intron_variant,,ENST00000585594,;NEDD4L,intron_variant,,ENST00000591989,;NEDD4L,intron_variant,,ENST00000588516,;	.	90	35	SUCCESS
KEAP1	9817	.	GRCh37	19	10600016	10600019	+	frameshift_variant	Frame_Shift_Del	DEL	ATAG	ATAG	-	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	ATAG	ATAG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	120	0	ENST00000171111.5:c.1557_1560del	p.Ile519MetfsTer12	p.I519Mfs*12	ENST00000171111	NM_203500.1	519	atCTAT/at	0	.	.	.	.	.	-	IY/X	protein_coding	YES	CCDS12239.1	1557-1560	INDELOCATOR|VARSCANI	.	AGCAGCATAGATACA	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	deletion	KEAP1,frameshift_variant,p.Ile519MetfsTer12,ENST00000393623,;KEAP1,frameshift_variant,p.Ile519MetfsTer12,ENST00000171111,;KEAP1,intron_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,frameshift_variant,p.Leu111AlafsTer?,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;KEAP1,downstream_gene_variant,,ENST00000585845,;	2105-2108	120	62	SUCCESS
DPF1	8193	.	GRCh37	19	38703032	38703032	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	76	0	ENST00000420980.2:c.961-1G>A		p.X321_splice	ENST00000420980	NM_004647.2	321		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46064.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCTGGGG	NONE	.	.	.	.	.	ENSP00000347716	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355526	Transcript	.	.	ENSG00000011332	20225	.	.	MODIFIER	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPF1_HUMAN	DPF1	HGNC	K7EJD5_HUMAN,C9JGC1_HUMAN,C9IZH8_HUMAN	.	UPI00018131F2	SNV	DPF1,splice_acceptor_variant,,ENST00000416611,;DPF1,splice_acceptor_variant,,ENST00000420980,;DPF1,intron_variant,,ENST00000412732,;DPF1,intron_variant,,ENST00000414789,;DPF1,intron_variant,,ENST00000355526,;DPF1,intron_variant,,ENST00000456296,;SIPA1L3,downstream_gene_variant,,ENST00000222345,;DPF1,downstream_gene_variant,,ENST00000438060,;DPF1,intron_variant,,ENST00000471976,;DPF1,intron_variant,,ENST00000494031,;DPF1,intron_variant,,ENST00000472656,;DPF1,intron_variant,,ENST00000473716,;DPF1,intron_variant,,ENST00000418517,;DPF1,intron_variant,,ENST00000488378,;DPF1,downstream_gene_variant,,ENST00000475938,;	.	76	101	SUCCESS
TULP2	7288	.	GRCh37	19	49399799	49399816	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTCAAACAGCCGCCGCTG	TTCAAACAGCCGCCGCTG	-	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	TTCAAACAGCCGCCGCTG	TTCAAACAGCCGCCGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	32	0	ENST00000221399.3:c.85-3_99del		p.X29_splice	ENST00000221399	NM_003323.2	29		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12739.1	?-99	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTTTTCAAACAGCCGCCGCTGGGGAG	NONE	.	.	.	.	.	ENSP00000221399	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000221399	Transcript	.	.	ENSG00000104804	12424	.	.	HIGH	3/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TULP2_HUMAN	TULP2	HGNC	E5RHR0_HUMAN	.	UPI0000071877	deletion	TULP2,splice_acceptor_variant,,ENST00000221399,;TULP2,splice_acceptor_variant,,ENST00000520977,;TULP2,splice_acceptor_variant,,ENST00000518572,;TULP2,splice_acceptor_variant,,ENST00000522945,;NUCB1,upstream_gene_variant,,ENST00000263273,;NUCB1,upstream_gene_variant,,ENST00000451312,;NUCB1,upstream_gene_variant,,ENST00000405315,;NUCB1,upstream_gene_variant,,ENST00000407032,;NUCB1,upstream_gene_variant,,ENST00000452087,;NUCB1,upstream_gene_variant,,ENST00000424608,;NUCB1,upstream_gene_variant,,ENST00000411700,;NUCB1,upstream_gene_variant,,ENST00000485798,;TULP2,non_coding_transcript_exon_variant,,ENST00000522229,;NUCB1,upstream_gene_variant,,ENST00000443560,;	?-244	32	29	SUCCESS
MUC16	94025	.	GRCh37	19	9076110	9076110	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs772201780	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	29	80	0	ENST00000397910.4:c.11336C>G	p.Ser3779Cys	p.S3779C	ENST00000397910	NM_024690.2	3779	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS54212.1	11336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATAGAGAAG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs772201780	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser3779Cys,ENST00000397910,;	11540	80	45	SUCCESS
PHTF1	10745	.	GRCh37	1	114254606	114254606	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	58	100	0	ENST00000369604.1:c.913G>T	p.Val305Phe	p.V305F	ENST00000369604		305	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS861.1	913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAACTTCAC	NONE	.	.	hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF8	.	.	ENSP00000358617	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000369604	Transcript	.	.	ENSG00000116793	8939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	PHTF1_HUMAN	PHTF1	HGNC	F6T5D1_HUMAN	.	UPI000013C9D0	SNV	PHTF1,missense_variant,p.Val61Phe,ENST00000412670,;PHTF1,missense_variant,p.Val305Phe,ENST00000357783,;PHTF1,missense_variant,p.Val252Phe,ENST00000369596,;PHTF1,missense_variant,p.Val252Phe,ENST00000369600,;PHTF1,missense_variant,p.Val305Phe,ENST00000369604,;PHTF1,missense_variant,p.Val305Phe,ENST00000393357,;PHTF1,missense_variant,p.Val260Phe,ENST00000369598,;PHTF1,3_prime_UTR_variant,,ENST00000447664,;PHTF1,non_coding_transcript_exon_variant,,ENST00000474926,;	1397	100	101	SUCCESS
TDRD5	163589	.	GRCh37	1	179609571	179609571	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	59	0	ENST00000294848.8:c.1791A>G	p.Arg597=	p.R597=	ENST00000294848	NM_173533.3	597	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS55663.1	1791	RADIA|MUTECT|MUSE	.	GTGAGACCAGT	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000417329,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;	2041	59	67	SUCCESS
KIF21B	23046	.	GRCh37	1	200946498	200946498	+	synonymous_variant	Silent	SNP	C	C	A	rs753892170	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	48	99	0	ENST00000422435.2:c.4167G>T	p.Ser1389=	p.S1389=	ENST00000422435	NM_001252100.1	1389	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58056.1	4167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCGAGGA	NONE	byFrequency	.	PROSITE_profiles:PS50294,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000411831	.	31/35	.	.	.	.	.	.	.	.	rs753892170,COSM3481338	31/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,synonymous_variant,p.%3D,ENST00000422435,;KIF21B,synonymous_variant,p.%3D,ENST00000360529,;KIF21B,synonymous_variant,p.%3D,ENST00000461742,;KIF21B,synonymous_variant,p.%3D,ENST00000332129,;	4484	99	90	SUCCESS
CACNA1S	779	.	GRCh37	1	201017755	201017755	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	26	42	0	ENST00000362061.3:c.4396A>T	p.Thr1466Ser	p.T1466S	ENST00000362061	NM_000069.2	1466	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1407.1	4396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGTGGCAT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190	.	.	ENSP00000355192	.	36/44	.	.	.	.	.	.	.	.	.	36/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Thr1447Ser,ENST00000367338,;CACNA1S,missense_variant,p.Thr1466Ser,ENST00000362061,;	4623	42	45	SUCCESS
CDK18	5129	.	GRCh37	1	205499790	205499790	+	synonymous_variant	Silent	SNP	C	C	T	rs767055966	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	102	1	ENST00000506784.1:c.1437C>T	p.Leu479=	p.L479=	ENST00000506784		479	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1454.1	1437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCCAGAA	NONE	.	.	hmmpanther:PTHR24056:SF52,hmmpanther:PTHR24056	.	.	ENSP00000423665	.	15/16	.	.	.	.	.	.	.	.	rs767055966	15/16	PASS	ENST00000506784	Transcript	.	.	ENSG00000117266	8751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK18_HUMAN	CDK18	HGNC	Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN	.	UPI000035030C	SNV	CDK18,synonymous_variant,p.%3D,ENST00000360066,;CDK18,synonymous_variant,p.%3D,ENST00000506784,;CDK18,synonymous_variant,p.%3D,ENST00000429964,;CDK18,downstream_gene_variant,,ENST00000478560,;CDK18,downstream_gene_variant,,ENST00000419301,;CDK18,non_coding_transcript_exon_variant,,ENST00000484080,;CDK18,non_coding_transcript_exon_variant,,ENST00000515514,;CDK18,non_coding_transcript_exon_variant,,ENST00000509056,;CDK18,non_coding_transcript_exon_variant,,ENST00000512008,;CDK18,non_coding_transcript_exon_variant,,ENST00000459862,;CDK18,downstream_gene_variant,,ENST00000506489,;CDK18,downstream_gene_variant,,ENST00000468954,;CDK18,downstream_gene_variant,,ENST00000505932,;CDK18,3_prime_UTR_variant,,ENST00000504648,;CDK18,3_prime_UTR_variant,,ENST00000515494,;CDK18,non_coding_transcript_exon_variant,,ENST00000489617,;CDK18,downstream_gene_variant,,ENST00000476153,;CDK18,downstream_gene_variant,,ENST00000504162,;CDK18,downstream_gene_variant,,ENST00000512922,;	1657	103	125	SUCCESS
EXO1	9156	.	GRCh37	1	242035468	242035468	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	124	314	0	ENST00000348581.5:c.1402A>G	p.Thr468Ala	p.T468A	ENST00000348581	NM_003686.4	468	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1620.1	1402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTACTAAC	NONE	.	.	hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.85)	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,missense_variant,p.Thr468Ala,ENST00000348581,;EXO1,missense_variant,p.Thr468Ala,ENST00000518483,;EXO1,missense_variant,p.Thr468Ala,ENST00000366548,;	1995	314	363	SUCCESS
TNNC2	7125	.	GRCh37	20	44451995	44451995	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777709485	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	35	0	ENST00000372555.3:c.475G>C	p.Val159Leu	p.V159L	ENST00000372555	NM_003279.2	159	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS13375.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGCCCT	NONE	byFrequency	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23064,hmmpanther:PTHR23064:SF2,SMART_domains:SM00054	.	.	ENSP00000361636	.	6/6	.	.	.	.	.	.	.	.	rs777709485	6/6	PASS	ENST00000372555	Transcript	.	.	ENSG00000101470	11944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.09)	.	TNNC2_HUMAN	TNNC2	HGNC	Q6FH92_HUMAN,C9J7T9_HUMAN	.	UPI000014A6DB	SNV	TNNC2,missense_variant,p.Val159Leu,ENST00000372555,;TNNC2,missense_variant,p.Val144Leu,ENST00000372557,;	568	35	37	SUCCESS
KRTAP22-1	337979	.	GRCh37	21	31973505	31973505	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	64	1	ENST00000334680.2:c.66T>A	p.Tyr22Ter	p.Y22*	ENST00000334680	NM_181620.1	22	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS13601.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTATGGCTG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF11759	.	.	ENSP00000333887	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334680	Transcript	.	.	ENSG00000186924	18947	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR221_HUMAN	KRTAP22-1	HGNC	.	.	UPI00001A9E4B	SNV	KRTAP22-1,stop_gained,p.Tyr22Ter,ENST00000334680,;KRTAP6-2,upstream_gene_variant,,ENST00000334897,;	92	65	62	SUCCESS
SGSM1	129049	.	GRCh37	22	25308673	25308673	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	83	0	ENST00000400359.4:c.3047G>A	p.Gly1016Glu	p.G1016E	ENST00000400359	NM_133454.2	1016	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS46674.1	3047	RADIA|MUTECT|MUSE|VARSCANS	.	CCACGGAGGCG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF187,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000383212	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000400359	Transcript	.	.	ENSG00000167037	29410	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SGSM1_HUMAN	SGSM1	HGNC	.	.	UPI00006EB130	SNV	SGSM1,missense_variant,p.Gly1016Glu,ENST00000400359,;SGSM1,missense_variant,p.Gly961Glu,ENST00000400358,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;	3054	83	79	SUCCESS
TTLL8	164714	.	GRCh37	22	50469294	50469294	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs776508046	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	47	0	ENST00000433387.1:c.1816A>T	p.Arg606Trp	p.R606W	ENST00000433387		606	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	.	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTCACAC	NONE	.	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF88	.	.	ENSP00000392252	.	12/14	.	.	.	.	.	.	.	.	rs776508046	12/14	PASS	ENST00000433387	Transcript	.	.	ENSG00000138892	34000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.03)	.	TTLL8_HUMAN	TTLL8	HGNC	.	.	UPI0001915500	SNV	TTLL8,missense_variant,p.Arg570Trp,ENST00000440475,;TTLL8,missense_variant,p.Arg606Trp,ENST00000433387,;TTLL8,missense_variant,p.Arg590Trp,ENST00000266182,;	1816	47	34	SUCCESS
NFE2L2	4780	.	GRCh37	2	178097059	178097059	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	23	0	ENST00000397062.3:c.594+61T>C		p.*198*	ENST00000397062	NM_006164.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42782.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCAGAATG	NONE	.	.	.	.	.	ENSP00000380252	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,3_prime_UTR_variant,,ENST00000423513,;NFE2L2,intron_variant,,ENST00000458603,;NFE2L2,intron_variant,,ENST00000449627,;NFE2L2,intron_variant,,ENST00000397062,;NFE2L2,intron_variant,,ENST00000446151,;NFE2L2,intron_variant,,ENST00000586532,;NFE2L2,intron_variant,,ENST00000421929,;NFE2L2,intron_variant,,ENST00000464747,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,intron_variant,,ENST00000448782,;NFE2L2,intron_variant,,ENST00000397063,;NFE2L2,downstream_gene_variant,,ENST00000588123,;NFE2L2,downstream_gene_variant,,ENST00000462023,;NFE2L2,downstream_gene_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	.	23	23	SUCCESS
ZDBF2	57683	.	GRCh37	2	207172701	207172701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	121	0	ENST00000374423.3:c.3449T>C	p.Val1150Ala	p.V1150A	ENST00000374423	NM_020923.1	1150	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS46501.1	3449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTTAAGA	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	tolerated(0.23)	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Val1150Ala,ENST00000374423,;	3835	121	119	SUCCESS
DGKD	8527	.	GRCh37	2	234360641	234360641	+	synonymous_variant	Silent	SNP	C	C	T	rs375913920	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	56	0	ENST00000264057.2:c.2199C>T	p.Pro733=	p.P733=	ENST00000264057	NM_152879.2	733	ccC/ccT	0	T:0.0007	T:0.0008	.	T:0	.	T	P	protein_coding	YES	CCDS2504.1	2199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCCGGTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30	T:0	T:0	ENSP00000264057	T:0	18/30	.	.	.	.	.	.	.	.	rs375913920,COSM3579255	18/30	PASS	ENST00000264057	Transcript	.	T:0.0002	ENSG00000077044	2851	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,synonymous_variant,p.%3D,ENST00000264057,;DGKD,synonymous_variant,p.%3D,ENST00000409813,;DGKD,downstream_gene_variant,,ENST00000480535,;DGKD,synonymous_variant,p.%3D,ENST00000430834,;DGKD,non_coding_transcript_exon_variant,,ENST00000490764,;DGKD,downstream_gene_variant,,ENST00000465569,;	2211	56	57	SUCCESS
ZBED2	79413	.	GRCh37	3	111312597	111312597	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	39	1	ENST00000317012.4:c.452T>C	p.Leu151Ser	p.L151S	ENST00000317012	NM_024508.4	151	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS2960.2	452	MUTECT|SOMATICSNIPER|VARSCANS	.	CCCACAAAGCC	NONE	.	.	.	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	.	tolerated(0.09)	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	SNV	ZBED2,missense_variant,p.Leu151Ser,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	1461	40	41	SUCCESS
ALDH1L1	10840	.	GRCh37	3	125856710	125856710	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	104	0	ENST00000393434.2:c.1170G>T	p.Leu390=	p.L390=	ENST00000393434	NM_012190.3	390	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS58851.1	1200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAACAGCTG	NONE	.	.	PROSITE_profiles:PS50075,hmmpanther:PTHR11699:SF120,hmmpanther:PTHR11699,Gene3D:1.10.1200.10,Pfam_domain:PF00550,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF47336	.	.	ENSP00000273450	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000273450	Transcript	.	.	ENSG00000144908	3978	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL1L1_HUMAN	ALDH1L1	HGNC	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN	.	UPI0000425C57	SNV	ALDH1L1,synonymous_variant,p.%3D,ENST00000393434,;ALDH1L1,synonymous_variant,p.%3D,ENST00000393431,;ALDH1L1,synonymous_variant,p.%3D,ENST00000452905,;ALDH1L1,synonymous_variant,p.%3D,ENST00000273450,;ALDH1L1,synonymous_variant,p.%3D,ENST00000472186,;ALDH1L1,3_prime_UTR_variant,,ENST00000473607,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000476245,;	1418	104	98	SUCCESS
SLC9A9	285195	.	GRCh37	3	142987725	142987725	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	39	108	0	ENST00000316549.6:c.1702G>T	p.Ala568Ser	p.A568S	ENST00000316549	NM_173653.3	568	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33872.1	1702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGCTTGAG	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61	.	.	ENSP00000320246	.	15/16	.	.	.	.	.	.	.	.	COSM1579235	15/16	PASS	ENST00000316549	Transcript	.	.	ENSG00000181804	20653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	tolerated(0.05)	1	SL9A9_HUMAN	SLC9A9	HGNC	.	.	UPI0000074664	SNV	SLC9A9,missense_variant,p.Ala568Ser,ENST00000316549,;	1911	108	82	SUCCESS
PLSCR1	5359	.	GRCh37	3	146234856	146234856	+	synonymous_variant	Silent	SNP	G	G	T	rs377240309	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	29	158	0	ENST00000342435.4:c.837C>A	p.Ile279=	p.I279=	ENST00000342435	NM_021105.2	279	atC/atA	0	C:0	.	.	.	.	T	I	protein_coding	YES	CCDS3135.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGATTCC	NONE	byCluster	.	Pfam_domain:PF03803,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF26	.	C:0.0001	ENSP00000345494	.	8/9	.	.	.	.	.	.	.	.	rs377240309	8/9	PASS	ENST00000342435	Transcript	.	.	ENSG00000188313	9092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLS1_HUMAN	PLSCR1	HGNC	C9JSI9_HUMAN,C9JE06_HUMAN,C9J7K9_HUMAN	.	UPI0000001627	SNV	PLSCR1,synonymous_variant,p.%3D,ENST00000483300,;PLSCR1,synonymous_variant,p.%3D,ENST00000487389,;PLSCR1,synonymous_variant,p.%3D,ENST00000448787,;PLSCR1,synonymous_variant,p.%3D,ENST00000342435,;PLSCR1,5_prime_UTR_variant,,ENST00000448205,;PLSCR1,downstream_gene_variant,,ENST00000462666,;PLSCR1,downstream_gene_variant,,ENST00000472349,;PLSCR1,downstream_gene_variant,,ENST00000486631,;PLSCR1,non_coding_transcript_exon_variant,,ENST00000484560,;PLSCR1,non_coding_transcript_exon_variant,,ENST00000470496,;PLSCR1,3_prime_UTR_variant,,ENST00000463777,;PLSCR1,3_prime_UTR_variant,,ENST00000489775,;PLSCR1,3_prime_UTR_variant,,ENST00000468985,;PLSCR1,3_prime_UTR_variant,,ENST00000478267,;PLSCR1,3_prime_UTR_variant,,ENST00000493432,;PLSCR1,3_prime_UTR_variant,,ENST00000488253,;PLSCR1,downstream_gene_variant,,ENST00000494568,;	1248	158	157	SUCCESS
ZFYVE20	0	.	GRCh37	3	15115634	15115634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	66	0	ENST00000253699.3:c.2010G>T	p.Glu670Asp	p.E670D	ENST00000253699	NM_022340.2	670	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS2623.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510	.	.	ENSP00000253699	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000253699	Transcript	.	.	ENSG00000131381	20759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.23)	.	RBNS5_HUMAN	ZFYVE20	HGNC	D6RD50_HUMAN	.	UPI0000051CE0	SNV	ZFYVE20,missense_variant,p.Glu670Asp,ENST00000253699,;ZFYVE20,missense_variant,p.Glu670Asp,ENST00000476527,;ZFYVE20,downstream_gene_variant,,ENST00000483098,;ZFYVE20,downstream_gene_variant,,ENST00000449964,;ZFYVE20,downstream_gene_variant,,ENST00000426541,;	2624	66	46	SUCCESS
MFSD1	64747	.	GRCh37	3	158531837	158531837	+	synonymous_variant	Silent	SNP	C	C	T	rs147447476	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	69	0	ENST00000264266.8:c.633C>T	p.Leu211=	p.L211=	ENST00000264266		211	ctC/ctT	0	T:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS3185.2	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTCGGGAT	NONE	byCluster	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF84,hmmpanther:PTHR24003,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	T:0	ENSP00000403117	.	7/16	.	.	.	.	.	.	.	.	rs147447476,COSM1536874,COSM1536873	7/16	PASS	ENST00000415822	Transcript	.	.	ENSG00000118855	25874	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	MFSD1_HUMAN	MFSD1	HGNC	C9JAC3_HUMAN	.	UPI0001AE7604	SNV	MFSD1,synonymous_variant,p.%3D,ENST00000392813,;MFSD1,synonymous_variant,p.%3D,ENST00000477743,;MFSD1,synonymous_variant,p.%3D,ENST00000415822,;MFSD1,synonymous_variant,p.%3D,ENST00000264266,;MFSD1,downstream_gene_variant,,ENST00000474670,;MFSD1,3_prime_UTR_variant,,ENST00000484166,;MFSD1,3_prime_UTR_variant,,ENST00000480292,;MFSD1,3_prime_UTR_variant,,ENST00000471500,;MFSD1,non_coding_transcript_exon_variant,,ENST00000489639,;MFSD1,downstream_gene_variant,,ENST00000471266,;MFSD1,downstream_gene_variant,,ENST00000476860,;	921	69	51	SUCCESS
MUC4	4585	.	GRCh37	3	195512126	195512126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	25	253	0	ENST00000463781.3:c.6325C>A	p.His2109Asn	p.H2109N	ENST00000463781	NM_018406.6	2109	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS54700.1	6325	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGTGACCTG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.His2109Asn,ENST00000475231,;MUC4,missense_variant,p.His2109Asn,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.His2109Asn,ENST00000477086,;MUC4,missense_variant,p.His2109Asn,ENST00000466475,;MUC4,missense_variant,p.His2109Asn,ENST00000478156,;MUC4,missense_variant,p.His2109Asn,ENST00000470451,;MUC4,missense_variant,p.His2109Asn,ENST00000479406,;MUC4,missense_variant,p.His2109Asn,ENST00000477756,;MUC4,missense_variant,p.His2109Asn,ENST00000462323,;MUC4,missense_variant,p.His2109Asn,ENST00000480843,;	6785	253	228	SUCCESS
CNTN3	5067	.	GRCh37	3	74411040	74411040	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1449654506	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	142	0	ENST00000263665.6:c.1364+1G>A		p.X455_splice	ENST00000263665	NM_020872.1	455		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33790.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACCTTTC	NONE	.	.	.	.	.	ENSP00000263665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263665	Transcript	.	.	ENSG00000113805	2173	.	.	HIGH	10/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	SNV	CNTN3,splice_donor_variant,,ENST00000263665,;	.	142	91	SUCCESS
ZCCHC4	29063	.	GRCh37	4	25314444	25314444	+	synonymous_variant	Silent	SNP	A	A	C	rs755437967	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	50	0	ENST00000302874.4:c.13A>C	p.Arg5=	p.R5=	ENST00000302874	NM_024936.2	5	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS43218.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGGAAT	NONE	byFrequency	.	hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2	.	.	ENSP00000303468	.	1/13	.	.	.	.	.	.	.	.	rs755437967	1/13	PASS	ENST00000302874	Transcript	.	.	ENSG00000168228	22917	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC4_HUMAN	ZCCHC4	HGNC	.	.	UPI0000251F28	SNV	ZCCHC4,synonymous_variant,p.%3D,ENST00000302874,;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,;ZCCHC4,synonymous_variant,p.%3D,ENST00000507760,;	37	50	41	SUCCESS
ALB	213	.	GRCh37	4	74272435	74272440	+	inframe_deletion	In_Frame_Del	DEL	CATGTG	CATGTG	-	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	CATGTG	CATGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	45	0	ENST00000295897.4:c.227_232del	p.Thr76_Val78delinsIle	p.T76_V78delinsI	ENST00000295897	NM_000477.5	76	aCATGTGtt/att	0	.	.	.	.	.	-	TCV/I	protein_coding	YES	CCDS3555.1	227-232	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAAAACATGTGTTGCT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,inframe_deletion,p.Thr76_Val78delinsIle,ENST00000509063,;ALB,inframe_deletion,p.Thr76_Val78delinsIle,ENST00000295897,;ALB,inframe_deletion,p.Thr78_Val80delinsIle,ENST00000441319,;ALB,5_prime_UTR_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000507673,;	316-321	45	41	SUCCESS
ALB	213	.	GRCh37	4	74286007	74286007	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	65	153	0	ENST00000295897.4:c.1823del	p.Gly608AlafsTer35	p.G608Afs*35	ENST00000295897	NM_000477.5	608	Ggc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS3555.1	1822	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTTAGGCTTA	NONE	.	.	hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PIRSF_domain:PIRSF002520	.	.	ENSP00000295897	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Gly453AlafsTer35,ENST00000511370,;ALB,frameshift_variant,p.Gly416AlafsTer35,ENST00000415165,;ALB,frameshift_variant,p.Gly608AlafsTer35,ENST00000295897,;ALB,frameshift_variant,p.Gly458AlafsTer35,ENST00000503124,;ALB,frameshift_variant,p.Gly493AlafsTer35,ENST00000401494,;ALB,intron_variant,,ENST00000509063,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1911	153	195	SUCCESS
UNC5A	90249	.	GRCh37	5	176306745	176306745	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	76	0	ENST00000329542.4:c.2387A>T	p.Lys796Met	p.K796M	ENST00000329542	NM_133369.2	796	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS34299.1	2387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAAGCCCA	NONE	.	.	Superfamily_domains:SSF47986,SMART_domains:SM00005,Pfam_domain:PF00531,Gene3D:1.10.533.10,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582	.	.	ENSP00000332737	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000329542	Transcript	.	.	ENSG00000113763	12567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UNC5A_HUMAN	UNC5A	HGNC	.	.	UPI0000047F37	SNV	UNC5A,missense_variant,p.Lys796Met,ENST00000329542,;UNC5A,missense_variant,p.Lys756Met,ENST00000261961,;HK3,downstream_gene_variant,,ENST00000292432,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,downstream_gene_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000514666,;	2661	76	67	SUCCESS
C5orf45	0	.	GRCh37	5	179274998	179274998	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	96	0	ENST00000292586.6:c.195A>C	p.Gln65His	p.Q65H	ENST00000292586	NM_016175.3	65	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS34319.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTTGTCC	NONE	.	.	hmmpanther:PTHR15863:SF2,hmmpanther:PTHR15863	.	.	ENSP00000292586	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000292586	Transcript	.	.	ENSG00000161010	30817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CE045_HUMAN	C5orf45	HGNC	E5RJC6_HUMAN	.	UPI000020CD05	SNV	C5orf45,missense_variant,p.Gln65His,ENST00000518219,;C5orf45,missense_variant,p.Gln65His,ENST00000292586,;C5orf45,missense_variant,p.Gln65His,ENST00000521333,;C5orf45,missense_variant,p.Gln107His,ENST00000403396,;C5orf45,missense_variant,p.Gln65His,ENST00000518235,;C5orf45,intron_variant,,ENST00000520698,;C5orf45,intron_variant,,ENST00000376931,;C5orf45,intron_variant,,ENST00000523084,;RN7SKP150,downstream_gene_variant,,ENST00000410516,;Y_RNA,upstream_gene_variant,,ENST00000516393,;C5orf45,upstream_gene_variant,,ENST00000523267,;C5orf45,downstream_gene_variant,,ENST00000517338,;C5orf45,missense_variant,p.Gln65His,ENST00000521299,;C5orf45,missense_variant,p.Gln65His,ENST00000519208,;C5orf45,3_prime_UTR_variant,,ENST00000523835,;C5orf45,3_prime_UTR_variant,,ENST00000522663,;C5orf45,3_prime_UTR_variant,,ENST00000519213,;C5orf45,3_prime_UTR_variant,,ENST00000520995,;C5orf45,3_prime_UTR_variant,,ENST00000524068,;C5orf45,3_prime_UTR_variant,,ENST00000522157,;C5orf45,non_coding_transcript_exon_variant,,ENST00000519318,;C5orf45,intron_variant,,ENST00000520150,;C5orf45,intron_variant,,ENST00000523737,;C5orf45,upstream_gene_variant,,ENST00000521675,;C5orf45,upstream_gene_variant,,ENST00000520900,;	286	96	77	SUCCESS
CCNO	10309	.	GRCh37	5	54529209	54529209	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs753124850	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	50	138	0	ENST00000282572.4:c.143del	p.Pro48ArgfsTer46	p.P48Rfs*46	ENST00000282572	NM_021147.3	48	cCg/cg	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS34157.1	143	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCACGGGTTC	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF14,PIRSF_domain:PIRSF001771	.	.	ENSP00000282572	.	1/3	.	.	.	.	.	.	.	.	rs753124850	1/3	PASS	ENST00000282572	Transcript	1	.	ENSG00000152669	18576	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCNO_HUMAN	CCNO	HGNC	.	.	UPI000020C764	deletion	CCNO,frameshift_variant,p.Pro48ArgfsTer46,ENST00000282572,;RP11-506H20.1,upstream_gene_variant,,ENST00000506435,;CCNO,frameshift_variant,p.Pro48ArgfsTer46,ENST00000501463,;	300	138	183	SUCCESS
DAXX	1616	.	GRCh37	6	33289254	33289254	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	74	0	ENST00000374542.5:c.298T>G	p.Leu100Val	p.L100V	ENST00000374542	NM_001141970.1	100	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4776.1	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAAAAACA	NONE	.	.	hmmpanther:PTHR12766:SF6,hmmpanther:PTHR12766,Pfam_domain:PF03344	.	.	ENSP00000363668	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000374542	Transcript	.	.	ENSG00000204209	2681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	DAXX_HUMAN	DAXX	HGNC	Q5STR5_HUMAN,Q4VX54_HUMAN,A2AB94_HUMAN	.	UPI0000128ED8	SNV	DAXX,missense_variant,p.Leu100Val,ENST00000374542,;DAXX,missense_variant,p.Leu100Val,ENST00000453407,;DAXX,missense_variant,p.Leu100Val,ENST00000446403,;DAXX,missense_variant,p.Leu100Val,ENST00000266000,;DAXX,missense_variant,p.Leu25Val,ENST00000414083,;ZBTB22,upstream_gene_variant,,ENST00000431845,;ZBTB22,upstream_gene_variant,,ENST00000418724,;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000446511,;DAXX,non_coding_transcript_exon_variant,,ENST00000477370,;DAXX,intron_variant,,ENST00000468536,;DAXX,intron_variant,,ENST00000477162,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,upstream_gene_variant,,ENST00000490173,;DAXX,downstream_gene_variant,,ENST00000498030,;	503	74	75	SUCCESS
PRSS35	167681	.	GRCh37	6	84233828	84233828	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	150	0	ENST00000369700.3:c.668T>G	p.Leu223Arg	p.L223R	ENST00000369700	NM_153362.2	223	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS4999.1	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCTGCGGG	NONE	.	.	hmmpanther:PTHR15462:SF7,hmmpanther:PTHR15462	.	.	ENSP00000440870	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000536636	Transcript	.	.	ENSG00000146250	21387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.41)	.	PRS35_HUMAN	PRSS35	HGNC	.	.	UPI000006D2C7	SNV	PRSS35,missense_variant,p.Leu223Arg,ENST00000369700,;PRSS35,missense_variant,p.Leu223Arg,ENST00000536636,;	1013	150	146	SUCCESS
FERD3L	222894	.	GRCh37	7	19184898	19184898	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	38	0	ENST00000275461.3:c.88C>T	p.Leu30Phe	p.L30F	ENST00000275461	NM_152898.2	30	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS5368.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGAGAG	NONE	.	.	hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF46	.	.	ENSP00000275461	.	1/1	.	.	.	.	.	.	.	.	COSM136592	1/1	PASS	ENST00000275461	Transcript	.	.	ENSG00000146618	16660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.132)	.	tolerated(0.05)	1	FER3L_HUMAN	FERD3L	HGNC	.	.	UPI0000073BBA	SNV	FERD3L,missense_variant,p.Leu30Phe,ENST00000275461,;AC003986.5,non_coding_transcript_exon_variant,,ENST00000452700,;	147	38	29	SUCCESS
IGF2BP3	10643	.	GRCh37	7	23509595	23509595	+	synonymous_variant	Silent	SNP	C	C	T	rs1469653243	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	43	0	ENST00000258729.3:c.135G>A	p.Pro45=	p.P45=	ENST00000258729	NM_006547.2	45	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5382.1	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCCGGGCA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000258729	.	1/15	.	.	.	.	.	.	.	.	COSM3411942	1/15	PASS	ENST00000258729	Transcript	.	.	ENSG00000136231	28868	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IF2B3_HUMAN	IGF2BP3	HGNC	.	.	UPI0000117172	SNV	IGF2BP3,synonymous_variant,p.%3D,ENST00000258729,;IGF2BP3,upstream_gene_variant,,ENST00000468263,;IGF2BP3,upstream_gene_variant,,ENST00000491719,;IGF2BP3,synonymous_variant,p.%3D,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000476938,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468005,;	492	43	48	SUCCESS
MRPL32	64983	.	GRCh37	7	42971964	42971964	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	54	0	ENST00000223324.2:c.-22G>A		p.*8*	ENST00000223324	NM_031903.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5468.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCGGGGCGG	NONE	.	.	.	.	.	ENSP00000223324	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000223324	Transcript	.	.	ENSG00000106591	14035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM32_HUMAN	MRPL32	HGNC	A4D1V4_HUMAN	.	UPI00001342E5	SNV	MRPL32,5_prime_UTR_variant,,ENST00000223324,;PSMA2,upstream_gene_variant,,ENST00000538645,;PSMA2,upstream_gene_variant,,ENST00000445517,;PSMA2,upstream_gene_variant,,ENST00000223321,;MRPL32,upstream_gene_variant,,ENST00000496564,;PSMA2,upstream_gene_variant,,ENST00000433579,;MRPL32,upstream_gene_variant,,ENST00000413995,;PSMA2,upstream_gene_variant,,ENST00000442788,;PSMA2,upstream_gene_variant,,ENST00000457444,;MRPL32,upstream_gene_variant,,ENST00000432845,;PSMA2,upstream_gene_variant,,ENST00000411875,;PSMA2,upstream_gene_variant,,ENST00000436986,;	166	54	53	SUCCESS
ABCA13	154664	.	GRCh37	7	48313643	48313643	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	47	113	0	ENST00000435803.1:c.4380T>G	p.Asn1460Lys	p.N1460K	ENST00000435803	NM_152701.3	1460	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS47584.1	4380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAATATTTA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	.	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Asn1460Lys,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	4404	113	123	SUCCESS
AKAP9	10142	.	GRCh37	7	91652251	91652251	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs1465643766	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	92	0	ENST00000356239.3:c.4079del	p.Asn1360ThrfsTer31	p.N1360Tfs*31	ENST00000356239	NM_147185.2	1359	cAa/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS5622.1	4076	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAACAAAACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF10,hmmpanther:PTHR18932	.	.	ENSP00000348573	.	14/50	.	.	.	.	.	.	.	.	rs548801776	14/50	PASS	ENST00000356239	Transcript	.	.	ENSG00000127914	379	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	deletion	AKAP9,frameshift_variant,p.Asn1360ThrfsTer31,ENST00000356239,;AKAP9,frameshift_variant,p.Asn1372ThrfsTer31,ENST00000359028,;AKAP9,frameshift_variant,p.Asn1372ThrfsTer31,ENST00000358100,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	4309	92	88	SUCCESS
DENND3	22898	.	GRCh37	8	142151392	142151392	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	48	0	ENST00000262585.2:c.352T>C	p.Tyr118His	p.Y118H	ENST00000262585	NM_014957.2	118	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS34947.1	352	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTATTAC	BUFFER|p.Y119D|c.355T>G|4	.	.	SMART_domains:SM00799,Pfam_domain:PF02141,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3,PROSITE_profiles:PS50211	.	.	ENSP00000262585	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Tyr198His,ENST00000519811,;DENND3,missense_variant,p.Tyr118His,ENST00000424248,;DENND3,missense_variant,p.Tyr198His,ENST00000518347,;DENND3,missense_variant,p.Tyr118His,ENST00000262585,;DENND3,missense_variant,p.Tyr175His,ENST00000518668,;DENND3,missense_variant,p.Tyr198His,ENST00000523058,;DENND3,missense_variant,p.Tyr31His,ENST00000518249,;DENND3,intron_variant,,ENST00000520986,;DENND3,downstream_gene_variant,,ENST00000519291,;DENND3,3_prime_UTR_variant,,ENST00000518198,;DENND3,upstream_gene_variant,,ENST00000523015,;	630	48	64	SUCCESS
LETM2	137994	.	GRCh37	8	38257839	38257839	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	61	0	ENST00000379957.4:c.695T>A	p.Phe232Tyr	p.F232Y	ENST00000379957	NM_001199659.1	232	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS56534.1	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTTCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14009:SF7,hmmpanther:PTHR14009,Pfam_domain:PF07766	.	.	ENSP00000428765	.	5/11	.	.	.	.	.	.	.	.	COSM169129	5/11	PASS	ENST00000523983	Transcript	.	.	ENSG00000165046	14648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.966)	.	deleterious(0)	1	LETM2_HUMAN	LETM2	HGNC	.	.	UPI000021093A	SNV	LETM2,missense_variant,p.Phe137Tyr,ENST00000297720,;LETM2,missense_variant,p.Phe18Tyr,ENST00000527710,;LETM2,missense_variant,p.Phe184Tyr,ENST00000524874,;LETM2,missense_variant,p.Phe232Tyr,ENST00000379957,;LETM2,missense_variant,p.Phe185Tyr,ENST00000523983,;LETM2,upstream_gene_variant,,ENST00000527175,;RP11-350N15.3,downstream_gene_variant,,ENST00000533301,;LETM2,upstream_gene_variant,,ENST00000528827,;LETM2,3_prime_UTR_variant,,ENST00000523268,;LETM2,3_prime_UTR_variant,,ENST00000518883,;LETM2,non_coding_transcript_exon_variant,,ENST00000518121,;LETM2,upstream_gene_variant,,ENST00000530448,;	726	61	38	SUCCESS
ADAM18	8749	.	GRCh37	8	39468133	39468133	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	133	422	1	ENST00000265707.5:c.430A>G	p.Lys144Glu	p.K144E	ENST00000265707	NM_014237.2	144	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6113.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGAAAAAT	CODON|p.M143I|c.429G>A|3	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28	.	.	ENSP00000265707	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.606)	.	deleterious(0.01)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Lys144Glu,ENST00000520772,;ADAM18,missense_variant,p.Lys144Glu,ENST00000265707,;ADAM18,missense_variant,p.Lys144Glu,ENST00000379866,;ADAM18,intron_variant,,ENST00000541111,;ADAM18,non_coding_transcript_exon_variant,,ENST00000520559,;ADAM18,3_prime_UTR_variant,,ENST00000520001,;ADAM18,intron_variant,,ENST00000520087,;	475	423	291	SUCCESS
PXDNL	137902	.	GRCh37	8	52321795	52321795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	29	0	ENST00000356297.4:c.2389C>T	p.His797Tyr	p.H797Y	ENST00000356297	NM_144651.4	797	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS47855.1	2389	MUTECT|MUSE	.	GCTGTGGTCGG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.106)	.	deleterious(0.01)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.His797Tyr,ENST00000543296,;PXDNL,missense_variant,p.His797Tyr,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,missense_variant,p.His63Tyr,ENST00000522628,;	2490	29	34	SUCCESS
CCIN	881	.	GRCh37	9	36170372	36170372	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	54	0	ENST00000335119.2:c.873C>T	p.Gly291=	p.G291=	ENST00000335119	NM_005893.2	291	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6599.1	873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCCAGTT	NONE	.	.	Superfamily_domains:0052715,SMART_domains:SM00612,Gene3D:1k3iA02,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF163	.	.	ENSP00000334996	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335119	Transcript	.	.	ENSG00000185972	1568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALI_HUMAN	CCIN	HGNC	Q8WX35_HUMAN	.	UPI000006EB8E	SNV	CCIN,synonymous_variant,p.%3D,ENST00000335119,;	984	54	34	SUCCESS
IRAK1	3654	.	GRCh37	X	153277357	153277357	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	18	0	ENST00000369980.3:c.2092G>T	p.Glu698Ter	p.E698*	ENST00000369980	NM_001569.3	698	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14740.1	2092	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCCAGGC	NONE	.	.	.	.	.	ENSP00000358997	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000369980	Transcript	.	.	ENSG00000184216	6112	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRAK1_HUMAN	IRAK1	HGNC	.	.	UPI000012D873	SNV	IRAK1,stop_gained,p.Glu698Ter,ENST00000369980,;IRAK1,stop_gained,p.Glu694Ter,ENST00000429936,;IRAK1,stop_gained,p.Glu619Ter,ENST00000369974,;IRAK1,stop_gained,p.Glu668Ter,ENST00000393687,;IRAK1,stop_gained,p.Glu679Ter,ENST00000393682,;IRAK1,stop_gained,p.Glu204Ter,ENST00000444254,;IRAK1,stop_gained,p.Glu262Ter,ENST00000437278,;IRAK1,missense_variant,p.Trp147Cys,ENST00000455690,;IRAK1,intron_variant,,ENST00000444230,;IRAK1,downstream_gene_variant,,ENST00000443220,;IRAK1,intron_variant,,ENST00000477274,;IRAK1,downstream_gene_variant,,ENST00000467236,;IRAK1,3_prime_UTR_variant,,ENST00000369973,;	2260	18	21	SUCCESS
NEURL1	9148	.	GRCh37	10	105344941	105344941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	39	0	ENST00000369780.4:c.1298T>A	p.Leu433His	p.L433H	ENST00000369780	NM_004210.4	433	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS7551.1	1298	RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTCTTCG	NONE	.	.	PROSITE_profiles:PS51065,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF4	.	.	ENSP00000358795	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000369780	Transcript	.	.	ENSG00000107954	7761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	NEU1A_HUMAN	NEURL1	HGNC	B4DS86_HUMAN	.	UPI0000073F46	SNV	NEURL1,missense_variant,p.Leu416His,ENST00000369777,;NEURL1,missense_variant,p.Leu433His,ENST00000369780,;SH3PXD2A,downstream_gene_variant,,ENST00000427662,;	1707	39	44	SUCCESS
PNLIP	5406	.	GRCh37	10	118306864	118306864	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	116	0	ENST00000369221.2:c.105A>T	p.Gly35=	p.G35=	ENST00000369221	NM_000936.2	35	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7594.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAATTAC	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF82,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00823,Prints_domain:PR00823	.	.	ENSP00000358223	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000369221	Transcript	1	.	ENSG00000175535	9155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPP_HUMAN	PNLIP	HGNC	.	.	UPI000004F1A0	SNV	PNLIP,synonymous_variant,p.%3D,ENST00000369221,;PNLIP,non_coding_transcript_exon_variant,,ENST00000470562,;	133	116	117	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17373544	17373544	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs745842600	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	49	0	ENST00000377602.4:c.385del	p.Ala130LeufsTer23	p.A130Lfs*23	ENST00000377602	NM_001004470.1	129	Ctt/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS31158.1	385	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCAAGTTTGG	NONE	.	.	hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,PIRSF_domain:PIRSF005557	.	.	ENSP00000366827	.	5/8	.	.	.	.	.	.	.	.	rs745842600	5/8	PASS	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	deletion	ST8SIA6,frameshift_variant,p.Ala130LeufsTer23,ENST00000377602,;ST8SIA6,upstream_gene_variant,,ENST00000440449,;	460	49	62	SUCCESS
ANKRD26	22852	.	GRCh37	10	27342285	27342285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	66	0	ENST00000376087.4:c.1599G>T	p.Glu533Asp	p.E533D	ENST00000376087	NM_014915.2	533	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS41499.1	1599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.07)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Glu533Asp,ENST00000376087,;ANKRD26,missense_variant,p.Glu549Asp,ENST00000436985,;ANKRD26,upstream_gene_variant,,ENST00000376070,;	1765	66	66	SUCCESS
NOC3L	64318	.	GRCh37	10	96116942	96116942	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1339374774	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	20	93	0	ENST00000371361.3:c.497G>A	p.Arg166Lys	p.R166K	ENST00000371361	NM_022451.9	166	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS7433.1	497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCTAGTC	NONE	.	.	PIRSF_domain:PIRSF028977,hmmpanther:PTHR14428:SF5,hmmpanther:PTHR14428	.	.	ENSP00000360412	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000371361	Transcript	.	.	ENSG00000173145	24034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.88)	.	NOC3L_HUMAN	NOC3L	HGNC	.	.	UPI000006DE09	SNV	NOC3L,missense_variant,p.Arg166Lys,ENST00000371361,;NOC3L,missense_variant,p.Arg166Lys,ENST00000371350,;NOC3L,upstream_gene_variant,,ENST00000543788,;NOC3L,non_coding_transcript_exon_variant,,ENST00000463649,;NOC3L,downstream_gene_variant,,ENST00000461562,;	598	93	106	SUCCESS
C11orf87	399947	.	GRCh37	11	109294946	109294946	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	82	0	ENST00000327419.6:c.587T>A	p.Leu196Gln	p.L196Q	ENST00000327419	NM_207645.3	196	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31672.1	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTGTCCT	NONE	.	.	hmmpanther:PTHR31870:SF2,hmmpanther:PTHR31870	.	.	ENSP00000331581	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327419	Transcript	.	.	ENSG00000185742	33788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	CK087_HUMAN	C11orf87	HGNC	.	.	UPI000013E5BC	SNV	C11orf87,missense_variant,p.Leu196Gln,ENST00000327419,;RP11-708B6.2,intron_variant,,ENST00000532929,;RP11-708B6.2,intron_variant,,ENST00000532992,;	990	82	54	SUCCESS
ATP5L	0	.	GRCh37	11	118279764	118279764	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	21	37	1	ENST00000300688.3:c.263A>T	p.Tyr88Phe	p.Y88F	ENST00000300688	NM_006476.4	88	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS8397.1	263	SOMATICSNIPER|VARSCANS	.	GTTTTATGTCG	NONE	.	.	PIRSF_domain:PIRSF017835,Pfam_domain:PF04718,hmmpanther:PTHR12386	.	.	ENSP00000300688	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000300688	Transcript	.	.	ENSG00000167283	14247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.044)	.	tolerated(0.24)	.	ATP5L_HUMAN	ATP5L	HGNC	.	.	UPI000004CF5D	SNV	ATP5L,missense_variant,p.Tyr88Phe,ENST00000300688,;ATP5L,intron_variant,,ENST00000524422,;ATP5L,non_coding_transcript_exon_variant,,ENST00000529460,;ATP5L,non_coding_transcript_exon_variant,,ENST00000533172,;ATP5L,non_coding_transcript_exon_variant,,ENST00000529770,;ATP5L,non_coding_transcript_exon_variant,,ENST00000527186,;ATP5L,non_coding_transcript_exon_variant,,ENST00000529790,;ATP5L,downstream_gene_variant,,ENST00000534385,;	775	38	23	SUCCESS
TECTA	7007	.	GRCh37	11	121016430	121016430	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1415362963	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	55	234	0	ENST00000264037.2:c.3710C>T	p.Thr1237Ile	p.T1237I	ENST00000264037	NM_005422.2	1237	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8434.1	3710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACCTATG	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000376543	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.479)	.	tolerated(0.18)	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Thr1237Ile,ENST00000264037,;TECTA,missense_variant,p.Thr1237Ile,ENST00000392793,;TECTA,non_coding_transcript_exon_variant,,ENST00000478058,;	3981	234	174	SUCCESS
OR10S1	219873	.	GRCh37	11	123847992	123847992	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199683540	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	49	71	0	ENST00000531945.1:c.407G>T	p.Arg136Leu	p.R136L	ENST00000531945	NM_001004474.1	136	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS31701.1	407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAGCGGTCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0.0005	ENSP00000431914	.	1/1	.	.	.	.	.	.	.	.	rs199683540	1/1	PASS	ENST00000531945	Transcript	.	.	ENSG00000196248	14807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	O10S1_HUMAN	OR10S1	HGNC	.	.	UPI00001A7787	SNV	OR10S1,missense_variant,p.Arg136Leu,ENST00000531945,;	497	71	56	SUCCESS
KCNA4	3739	.	GRCh37	11	30033588	30033588	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	33	59	0	ENST00000328224.6:c.638A>T	p.Asp213Val	p.D213V	ENST00000328224	NM_002233.3	213	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS41629.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGTCAAAG	NONE	.	.	hmmpanther:PTHR11537:SF45,hmmpanther:PTHR11537,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01496	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,missense_variant,p.Asp213Val,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	1872	59	48	SUCCESS
WT1	7490	.	GRCh37	11	32450064	32450064	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs142653301	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	72	0	ENST00000332351.3:c.748A>C	p.Met250Leu	p.M250L	ENST00000332351	NM_024426.4	250	Atg/Ctg	0	C:0	.	.	.	.	G	M/L	protein_coding	YES	CCDS7878.2	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCATGGGAT	NONE	byCluster	.	hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042,Pfam_domain:PF02165	.	C:0.0001	ENSP00000331327	.	2/10	.	.	.	.	.	.	.	.	rs142653301	2/10	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,start_lost,p.Met1?,ENST00000527775,;WT1,missense_variant,p.Met250Leu,ENST00000332351,;WT1,missense_variant,p.Met250Leu,ENST00000448076,;WT1,missense_variant,p.Met250Leu,ENST00000452863,;WT1,missense_variant,p.Met38Leu,ENST00000530998,;WT1,missense_variant,p.Met38Leu,ENST00000379079,;WT1,missense_variant,p.Met250Leu,ENST00000379077,;	1033	72	65	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33572682	33572682	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	90	121	0	ENST00000321505.4:c.2707G>A	p.Gly903Ser	p.G903S	ENST00000321505		903	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS44565.2	2707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGTGTG	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.77)	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,missense_variant,p.Gly903Ser,ENST00000321505,;KIAA1549L,missense_variant,p.Gly301Ser,ENST00000526400,;KIAA1549L,missense_variant,p.Gly909Ser,ENST00000389726,;KIAA1549L,missense_variant,p.Gly909Ser,ENST00000265654,;	2887	121	111	SUCCESS
RPS6KB2	6199	.	GRCh37	11	67200655	67200655	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs536646745	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	71	0	ENST00000312629.5:c.766G>A	p.Gly256Arg	p.G256R	ENST00000312629	NM_003952.2	256	Ggg/Agg	0	.	C:0	.	C:0	.	A	G/R	protein_coding	YES	CCDS41677.1	766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGGGGCC	NONE	by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF39,hmmpanther:PTHR24351,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112	C:0	.	ENSP00000308413	C:0.001	9/15	.	.	.	.	.	.	.	.	rs536646745	9/15	PASS	ENST00000312629	Transcript	.	C:0.0002	ENSG00000175634	10437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	C:0	deleterious(0)	.	KS6B2_HUMAN	RPS6KB2	HGNC	.	.	UPI00001FAD74	SNV	RPS6KB2,missense_variant,p.Gly256Arg,ENST00000312629,;RPS6KB2,downstream_gene_variant,,ENST00000524934,;CORO1B,downstream_gene_variant,,ENST00000341356,;CORO1B,downstream_gene_variant,,ENST00000393893,;RPS6KB2,downstream_gene_variant,,ENST00000539188,;PTPRCAP,downstream_gene_variant,,ENST00000326294,;AP003419.16,intron_variant,,ENST00000535922,;RPS6KB2,downstream_gene_variant,,ENST00000524814,;RPS6KB2,3_prime_UTR_variant,,ENST00000528964,;RPS6KB2,3_prime_UTR_variant,,ENST00000525996,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000526268,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000525088,;RPS6KB2,downstream_gene_variant,,ENST00000420069,;RPS6KB2,upstream_gene_variant,,ENST00000531765,;RPS6KB2,downstream_gene_variant,,ENST00000525726,;CORO1B,downstream_gene_variant,,ENST00000537042,;RPS6KB2,downstream_gene_variant,,ENST00000530623,;RPS6KB2,downstream_gene_variant,,ENST00000556575,;	811	71	36	SUCCESS
XRRA1	143570	.	GRCh37	11	74563036	74563036	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs745942861	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	99	0	ENST00000340360.6:c.1238G>A	p.Arg413Gln	p.R413Q	ENST00000340360	NM_182969.2	413	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS44680.1	1238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTCGTGTA	NONE	.	.	hmmpanther:PTHR22710,Gene3D:3.80.10.10	.	.	ENSP00000339918	.	13/19	.	.	.	.	.	.	.	.	rs745942861,COSM242287	13/19	PASS	ENST00000340360	Transcript	.	.	ENSG00000166435	18868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.941)	.	tolerated(0.05)	0,1	XRRA1_HUMAN	XRRA1	HGNC	E9PJ58_HUMAN	.	UPI0001572CC6	SNV	XRRA1,missense_variant,p.Arg138Gln,ENST00000321448,;XRRA1,missense_variant,p.Arg413Gln,ENST00000340360,;XRRA1,intron_variant,,ENST00000527087,;XRRA1,splice_region_variant,,ENST00000530280,;XRRA1,splice_region_variant,,ENST00000530562,;XRRA1,splice_region_variant,,ENST00000529926,;XRRA1,splice_region_variant,,ENST00000531449,;XRRA1,splice_region_variant,,ENST00000531849,;XRRA1,intron_variant,,ENST00000431210,;	1570	99	80	SUCCESS
SERPINH1	871	.	GRCh37	11	75282922	75282922	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368336245	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	36	75	1	ENST00000358171.3:c.1051G>A	p.Val351Met	p.V351M	ENST00000358171	NM_001235.3	351	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS8239.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CCAGCGTGTTC	NONE	byCluster	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF27	.	A:0.0001	ENSP00000434412	.	5/5	.	.	.	.	.	.	.	.	rs368336245	5/5	PASS	ENST00000524558	Transcript	.	.	ENSG00000149257	1546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.474)	.	tolerated(0.09)	.	SERPH_HUMAN	SERPINH1	HGNC	Q9NPA9_HUMAN,E9PRS3_HUMAN,E9PR70_HUMAN,E9PNX1_HUMAN,E9PMI5_HUMAN,E9PKH2_HUMAN,E9PK86_HUMAN,E9PJH8_HUMAN,E9PIG2_HUMAN,B4DN87_HUMAN	.	UPI00001271B6	SNV	SERPINH1,missense_variant,p.Val134Met,ENST00000525876,;SERPINH1,missense_variant,p.Val351Met,ENST00000533603,;SERPINH1,missense_variant,p.Val351Met,ENST00000524558,;SERPINH1,missense_variant,p.Val351Met,ENST00000358171,;SERPINH1,downstream_gene_variant,,ENST00000530284,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,upstream_gene_variant,,ENST00000526638,;	2486	76	60	SUCCESS
DLG2	1740	.	GRCh37	11	83177808	83177808	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	74	0	ENST00000398309.2:c.2357T>C	p.Val786Ala	p.V786A	ENST00000398309	NM_001364.3	786	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS44690.1	2672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAACTTGT	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF001741,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PROSITE_profiles:PS50052	.	.	ENSP00000365272	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.35)	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,missense_variant,p.Val782Ala,ENST00000524982,;DLG2,missense_variant,p.Val250Ala,ENST00000426717,;DLG2,missense_variant,p.Val825Ala,ENST00000280241,;DLG2,missense_variant,p.Val138Ala,ENST00000457267,;DLG2,missense_variant,p.Val707Ala,ENST00000330014,;DLG2,missense_variant,p.Val786Ala,ENST00000398309,;DLG2,missense_variant,p.Val891Ala,ENST00000376104,;DLG2,missense_variant,p.Val768Ala,ENST00000532653,;DLG2,missense_variant,p.Val536Ala,ENST00000537455,;DLG2,missense_variant,p.Val753Ala,ENST00000531015,;DLG2,missense_variant,p.Val250Ala,ENST00000376106,;DLG2,missense_variant,p.Val891Ala,ENST00000543673,;DLG2,missense_variant,p.Val665Ala,ENST00000418306,;DLG2,missense_variant,p.Val264Ala,ENST00000404783,;DLG2,downstream_gene_variant,,ENST00000420775,;DLG2,upstream_gene_variant,,ENST00000529159,;	2984	74	61	SUCCESS
CMKLR1	1240	.	GRCh37	12	108686420	108686420	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	255	50	216	0	ENST00000312143.7:c.320del	p.Phe107SerfsTer24	p.F107Sfs*24	ENST00000312143	NM_001142344.1	107	tTc/tc	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS44965.1	320	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCCCGAAAACC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227:SF2,hmmpanther:PTHR24227,PROSITE_profiles:PS50262	.	.	ENSP00000311733	.	3/3	.	.	.	.	.	.	.	.	COSM546244	3/3	PASS	ENST00000312143	Transcript	.	.	ENSG00000174600	2121	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	CML1_HUMAN	CMKLR1	HGNC	F8VYN7_HUMAN,F8VSC8_HUMAN	.	UPI0000127BD4	deletion	CMKLR1,frameshift_variant,p.Phe107SerfsTer24,ENST00000312143,;CMKLR1,frameshift_variant,p.Phe107SerfsTer24,ENST00000550573,;CMKLR1,frameshift_variant,p.Phe107SerfsTer24,ENST00000549466,;CMKLR1,frameshift_variant,p.Phe105SerfsTer24,ENST00000397688,;CMKLR1,frameshift_variant,p.Phe105SerfsTer24,ENST00000552995,;CMKLR1,frameshift_variant,p.Phe107SerfsTer24,ENST00000412676,;CMKLR1,frameshift_variant,p.Phe107SerfsTer24,ENST00000550402,;	684	216	305	SUCCESS
TMEM119	338773	.	GRCh37	12	108985575	108985575	+	synonymous_variant	Silent	SNP	G	G	A	rs751839523	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	43	0	ENST00000392806.3:c.585C>T	p.Asp195=	p.D195=	ENST00000392806	NM_181724.2	195	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS9119.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTCCCC	NONE	byFrequency	.	.	.	.	ENSP00000376553	.	2/2	.	.	.	.	.	.	.	.	rs751839523	2/2	PASS	ENST00000392806	Transcript	.	.	ENSG00000183160	27884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM119_HUMAN	TMEM119	HGNC	F8W0W9_HUMAN,F8VZL0_HUMAN,F8VS22_HUMAN	.	UPI0000049333	SNV	TMEM119,synonymous_variant,p.%3D,ENST00000392806,;TMEM119,downstream_gene_variant,,ENST00000547567,;TMEM119,downstream_gene_variant,,ENST00000549447,;TMEM119,downstream_gene_variant,,ENST00000549031,;	754	43	46	SUCCESS
GUCY2C	2984	.	GRCh37	12	14794100	14794100	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	78	0	ENST00000261170.3:c.1984G>C	p.Asp662His	p.D662H	ENST00000261170	NM_004963.3	662	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS8664.1	1984	MUTECT|MUSE|VARSCANS	.	CACATCTCCTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF41,hmmpanther:PTHR11920,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000261170	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000261170	Transcript	.	.	ENSG00000070019	4688	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GUC2C_HUMAN	GUCY2C	HGNC	.	.	UPI000013D135	SNV	GUCY2C,missense_variant,p.Asp662His,ENST00000261170,;	2121	78	71	SUCCESS
LINC00477	144360	.	GRCh37	12	24736316	24736316	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	14	0	ENST00000483544.1:n.787T>C		p.*263*	ENST00000483544				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GAAAGAGAAGG	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000483544	Transcript	.	.	ENSG00000197503	26557	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LINC00477	HGNC	.	.	.	SNV	LINC00477,non_coding_transcript_exon_variant,,ENST00000483544,;KNOP1P1,upstream_gene_variant,,ENST00000542108,;	787	14	13	SUCCESS
DDX11	1663	.	GRCh37	12	31247737	31247737	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770434517	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	98	190	0	ENST00000545668.1:c.1463A>G	p.Asp488Gly	p.D488G	ENST00000545668	NM_001257144.1	488	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS44856.1	1463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCGACAACA	NONE	.	.	hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,TIGRFAM_domain:TIGR00604	.	.	ENSP00000384703	.	14/27	.	.	.	.	.	.	.	.	rs770434517	14/27	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	SNV	DDX11,missense_variant,p.Asp488Gly,ENST00000350437,;DDX11,missense_variant,p.Asp488Gly,ENST00000542838,;DDX11,missense_variant,p.Asp488Gly,ENST00000545668,;DDX11,missense_variant,p.Asp462Gly,ENST00000228264,;DDX11,missense_variant,p.Asp488Gly,ENST00000407793,;DDX11,3_prime_UTR_variant,,ENST00000251758,;DDX11,downstream_gene_variant,,ENST00000438391,;DDX11,non_coding_transcript_exon_variant,,ENST00000539673,;DDX11,downstream_gene_variant,,ENST00000545717,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,3_prime_UTR_variant,,ENST00000539049,;DDX11,non_coding_transcript_exon_variant,,ENST00000543511,;DDX11,non_coding_transcript_exon_variant,,ENST00000536580,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,intron_variant,,ENST00000538345,;DDX11,upstream_gene_variant,,ENST00000542661,;DDX11,downstream_gene_variant,,ENST00000542129,;DDX11,downstream_gene_variant,,ENST00000540935,;DDX11,downstream_gene_variant,,ENST00000535158,;DDX11,upstream_gene_variant,,ENST00000539699,;DDX11,downstream_gene_variant,,ENST00000543026,;	1714	191	193	SUCCESS
INHBE	83729	.	GRCh37	12	57849283	57849283	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	16	0	ENST00000266646.2:c.-37A>T		p.*13*	ENST00000266646	NM_031479.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8939.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCATCCGA	NONE	.	.	.	.	.	ENSP00000266646	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000266646	Transcript	.	.	ENSG00000139269	24029	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INHBE_HUMAN	INHBE	HGNC	.	.	UPI000012D42C	SNV	INHBE,5_prime_UTR_variant,,ENST00000266646,;INHBE,intron_variant,,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,;INHBC,downstream_gene_variant,,ENST00000309668,;GLI1,upstream_gene_variant,,ENST00000546141,;GLI1,upstream_gene_variant,,ENST00000528432,;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000543426,;INHBE,intron_variant,,ENST00000551553,;INHBE,upstream_gene_variant,,ENST00000553033,;	180	16	19	SUCCESS
INHBE	83729	.	GRCh37	12	57850290	57850290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	6	110	0	ENST00000266646.2:c.712C>A	p.Pro238Thr	p.P238T	ENST00000266646	NM_031479.3	238	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS8939.1	712	MUTECT|MUSE	.	GGACCCCCACC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF6,hmmpanther:PTHR11848	.	.	ENSP00000266646	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000266646	Transcript	.	.	ENSG00000139269	24029	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.77)	.	tolerated(0.09)	.	INHBE_HUMAN	INHBE	HGNC	.	.	UPI000012D42C	SNV	INHBE,missense_variant,p.Pro238Thr,ENST00000266646,;INHBE,missense_variant,p.Pro183Thr,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,;GLI1,upstream_gene_variant,,ENST00000546141,;GLI1,upstream_gene_variant,,ENST00000528432,;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000543426,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,non_coding_transcript_exon_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;	928	110	121	SUCCESS
MARS	0	.	GRCh37	12	57910274	57910274	+	synonymous_variant	Silent	SNP	G	G	A	rs373439522	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	69	227	0	ENST00000262027.5:c.2613G>A	p.Ala871=	p.A871=	ENST00000262027	NM_004990.3	871	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS8942.1	2613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGAGGT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF47060,SMART_domains:SM00991,Gene3D:1.10.287.10,Pfam_domain:PF00458,PROSITE_patterns:PS00762,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69,PROSITE_profiles:PS51185	.	A:0.0001	ENSP00000262027	.	21/21	.	.	.	.	.	.	.	.	rs373439522	21/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,synonymous_variant,p.%3D,ENST00000552914,;MARS,synonymous_variant,p.%3D,ENST00000262027,;MARS,splice_region_variant,,ENST00000548944,;MARS,3_prime_UTR_variant,,ENST00000547665,;DDIT3,downstream_gene_variant,,ENST00000346473,;DDIT3,downstream_gene_variant,,ENST00000552740,;MBD6,upstream_gene_variant,,ENST00000548887,;DDIT3,downstream_gene_variant,,ENST00000551116,;MARS,downstream_gene_variant,,ENST00000315473,;MBD6,upstream_gene_variant,,ENST00000551351,;DDIT3,downstream_gene_variant,,ENST00000547526,;DDIT3,downstream_gene_variant,,ENST00000547303,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,3_prime_UTR_variant,,ENST00000551172,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000552499,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000549603,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000551805,;	2747	227	279	SUCCESS
MON2	23041	.	GRCh37	12	62902326	62902326	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	42	0	ENST00000393630.3:c.984+66T>C		p.*328*	ENST00000393630				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31849.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGGTCTGTT	NONE	.	.	.	.	.	ENSP00000377252	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	MODIFIER	8/34	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,intron_variant,,ENST00000546600,;MON2,intron_variant,,ENST00000393630,;MON2,intron_variant,,ENST00000280379,;MON2,intron_variant,,ENST00000552115,;MON2,intron_variant,,ENST00000393629,;MON2,intron_variant,,ENST00000393632,;MON2,intron_variant,,ENST00000552738,;MON2,non_coding_transcript_exon_variant,,ENST00000549378,;MON2,intron_variant,,ENST00000547095,;	.	42	33	SUCCESS
LPAR5	57121	.	GRCh37	12	6730266	6730266	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs575538627	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	60	0	ENST00000329858.4:c.149C>T	p.Ala50Val	p.A50V	ENST00000329858	NM_020400.5	50	gCg/gTg	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS8553.1	149	MUTECT|MUSE	.	GCAGCGCGCGC	NONE	by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24234:SF6,hmmpanther:PTHR24234,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	.	ENSP00000327875	A:0	2/2	.	.	.	.	.	.	.	.	rs575538627	2/2	PASS	ENST00000329858	Transcript	.	A:0.0002	ENSG00000184574	13307	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	A:0.001	tolerated(0.49)	.	LPAR5_HUMAN	LPAR5	HGNC	Q5KU18_HUMAN	.	UPI0000036A45	SNV	LPAR5,missense_variant,p.Ala50Val,ENST00000329858,;LPAR5,missense_variant,p.Ala50Val,ENST00000431922,;LPAR5,non_coding_transcript_exon_variant,,ENST00000540335,;	906	60	52	SUCCESS
FAM90A1	55138	.	GRCh37	12	8376148	8376148	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	32	0	ENST00000307435.6:c.329A>T	p.Gln110Leu	p.Q110L	ENST00000307435		110	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS31738.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTTGTGGC	NONE	.	.	hmmpanther:PTHR16035:SF8,hmmpanther:PTHR16035	.	.	ENSP00000445418	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000538603	Transcript	.	.	ENSG00000171847	25526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.144)	.	deleterious(0.02)	.	F90A1_HUMAN	FAM90A1	HGNC	.	.	UPI000013EC10	SNV	FAM90A1,missense_variant,p.Gln110Leu,ENST00000538603,;FAM90A1,missense_variant,p.Gln110Leu,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;ALG1L10P,upstream_gene_variant,,ENST00000437882,;	888	32	43	SUCCESS
RNF6	6049	.	GRCh37	13	26788338	26788338	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs140801203	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	40	63	1	ENST00000346166.3:c.1681C>G	p.Arg561Gly	p.R561G	ENST00000346166	NM_183043.2	561	Cga/Gga	0	C:0.0016	C:0.0023	.	C:0	.	C	R/G	protein_coding	YES	CCDS9316.1	1681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGAGTAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF4	C:0	C:0	ENSP00000371000	C:0	5/5	.	.	.	.	.	.	.	.	rs140801203	5/5	PASS	ENST00000381588	Transcript	.	C:0.0006	ENSG00000127870	10069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	C:0	tolerated(0.31)	.	RNF6_HUMAN	RNF6	HGNC	.	.	UPI0000000A0A	SNV	RNF6,missense_variant,p.Arg561Gly,ENST00000346166,;RNF6,missense_variant,p.Arg561Gly,ENST00000381570,;RNF6,missense_variant,p.Arg561Gly,ENST00000381588,;RNF6,missense_variant,p.Arg205Gly,ENST00000399762,;RNF6,intron_variant,,ENST00000468480,;RNF6,downstream_gene_variant,,ENST00000498039,;	2434	64	45	SUCCESS
CDK8	1024	.	GRCh37	13	26911779	26911779	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	rs371097459	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	100	212	0	ENST00000381527.3:c.204A>T		p.X68_splice	ENST00000381527	NM_001260.1	68	gcA/gcT	0	G:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS9317.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCAGTAAG	NONE	byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF162,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	G:0	ENSP00000370938	.	2/13	.	.	.	.	.	.	.	.	rs371097459	2/13	PASS	ENST00000381527	Transcript	.	.	ENSG00000132964	1779	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK8_HUMAN	CDK8	HGNC	B4DL75_HUMAN	.	UPI000002E531	SNV	CDK8,synonymous_variant,p.%3D,ENST00000536792,;CDK8,synonymous_variant,p.%3D,ENST00000381527,;CDK8,splice_region_variant,,ENST00000477290,;	707	212	122	SUCCESS
NBEA	26960	.	GRCh37	13	36046629	36046629	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	80	0	ENST00000400445.3:c.6541G>A	p.Glu2181Lys	p.E2181K	ENST00000400445	NM_015678.4	2181	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45026.1	6541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGAGGTA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:1t77A01,Pfam_domain:PF14844,Superfamily_domains:SSF50729	.	.	ENSP00000383295	.	41/58	.	.	.	.	.	.	.	.	COSM1366596	41/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.631)	.	deleterious(0)	1	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Glu2181Lys,ENST00000400445,;NBEA,missense_variant,p.Glu2181Lys,ENST00000540320,;NBEA,missense_variant,p.Glu2181Lys,ENST00000310336,;NBEA,missense_variant,p.Glu2178Lys,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;MAB21L1,downstream_gene_variant,,ENST00000379919,;	7075	80	63	SUCCESS
RNASEH2B	79621	.	GRCh37	13	51504867	51504867	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	54	0	ENST00000336617.3:c.293T>G	p.Leu98Arg	p.L98R	ENST00000336617	NM_024570.3	98	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS9425.1	293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTCCACT	NONE	.	.	hmmpanther:PTHR13383:SF11,hmmpanther:PTHR13383,Pfam_domain:PF09468	.	.	ENSP00000337623	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000336617	Transcript	.	.	ENSG00000136104	25671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RNH2B_HUMAN	RNASEH2B	HGNC	.	.	UPI000013CFE7	SNV	RNASEH2B,missense_variant,p.Leu98Arg,ENST00000336617,;RNASEH2B,missense_variant,p.Leu98Arg,ENST00000422660,;RNASEH2B,non_coding_transcript_exon_variant,,ENST00000459681,;RNASEH2B,non_coding_transcript_exon_variant,,ENST00000495244,;	692	54	48	SUCCESS
UGGT2	55757	.	GRCh37	13	96579477	96579477	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	150	263	0	ENST00000376747.3:c.2091A>G	p.Ile697Met	p.I697M	ENST00000376747	NM_020121.3	697	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS9480.1	2091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATATTAA	NONE	.	.	hmmpanther:PTHR11226:SF1,hmmpanther:PTHR11226	.	.	ENSP00000365938	.	18/39	.	.	.	.	.	.	.	.	.	18/39	PASS	ENST00000376747	Transcript	.	.	ENSG00000102595	15664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.413)	.	tolerated(0.15)	.	UGGG2_HUMAN	UGGT2	HGNC	.	.	UPI00001FC9AA	SNV	UGGT2,missense_variant,p.Ile697Met,ENST00000376747,;	2162	263	191	SUCCESS
IGHV4-34	28395	.	GRCh37	14	106829794	106829794	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs3814931	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	80	156	0	ENST00000390616.2:c.169G>T	p.Gly57Cys	p.G57C	ENST00000390616		57	Ggt/Tgt	0	.	T:0.0015	.	T:0.0014	.	A	G/C	IG_V_gene	YES	.	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACCACTGA	NONE	byFrequency|byCluster|byHapMap|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	T:0.002	.	ENSP00000375025	T:0.001	2/2	.	.	.	.	.	.	.	.	rs3814931	2/2	PASS	ENST00000390616	Transcript	1	T:0.0012	ENSG00000211956	5650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	T:0	deleterious(0.02)	.	.	IGHV4-34	HGNC	.	.	UPI000173A6AA	SNV	IGHV4-34,missense_variant,p.Gly57Cys,ENST00000390616,;IGHV7-34-1,downstream_gene_variant,,ENST00000519200,;IGHV3-33-2,upstream_gene_variant,,ENST00000517703,;	200	156	156	SUCCESS
PARP2	10038	.	GRCh37	14	20820473	20820473	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	26	131	0	ENST00000250416.5:c.606T>C	p.Asp202=	p.D202=	ENST00000250416	NM_005484.3	202	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS41910.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGATATGCT	NONE	.	.	hmmpanther:PTHR15447,Gene3D:1.20.142.10,Superfamily_domains:0052256	.	.	ENSP00000250416	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000250416	Transcript	.	.	ENSG00000129484	272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP2_HUMAN	PARP2	HGNC	G3V167_HUMAN	.	UPI0000035DCA	SNV	PARP2,synonymous_variant,p.%3D,ENST00000250416,;PARP2,synonymous_variant,p.%3D,ENST00000429687,;PARP2,synonymous_variant,p.%3D,ENST00000527915,;PARP2,upstream_gene_variant,,ENST00000539930,;PARP2,upstream_gene_variant,,ENST00000555140,;PARP2,3_prime_UTR_variant,,ENST00000529465,;PARP2,non_coding_transcript_exon_variant,,ENST00000528465,;PARP2,upstream_gene_variant,,ENST00000532299,;PARP2,upstream_gene_variant,,ENST00000534664,;PARP2,upstream_gene_variant,,ENST00000530598,;PARP2,upstream_gene_variant,,ENST00000527384,;	633	131	126	SUCCESS
RP11-468E2.9	0	.	GRCh37	14	24517955	24517955	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1229500987	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	546	139	596	0	ENST00000606840.1:n.610G>A		p.*204*	ENST00000606840				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32054.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGCCCCA	NONE	.	3254	.	.	.	ENSP00000340467	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342740	Transcript	.	.	ENSG00000186648	20272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16B_HUMAN	LRRC16B	HGNC	.	.	UPI0000DBEF11	SNV	LRRC16B,upstream_gene_variant,,ENST00000342740,;LRRC16B,upstream_gene_variant,,ENST00000334420,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000558293,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000559270,;RP11-468E2.9,intron_variant,,ENST00000558622,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000606840,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000397065,;	.	596	686	SUCCESS
HECTD1	25831	.	GRCh37	14	31647288	31647288	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377423641	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	6	112	0	ENST00000399332.1:c.313C>T	p.Arg105Cys	p.R105C	ENST00000399332	NM_015382.2	105	Cgt/Tgt	0	C:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS41939.1	313	MUTECT|MUSE	.	CAAACGATTAC	NONE	byCluster	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	.	C:0.0001	ENSP00000382269	.	3/43	.	.	.	.	.	.	.	.	rs377423641	3/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Arg105Cys,ENST00000399332,;HECTD1,missense_variant,p.Arg105Cys,ENST00000553700,;HECTD1,missense_variant,p.Arg105Cys,ENST00000556224,;HECTD1,non_coding_transcript_exon_variant,,ENST00000553616,;HECTD1,upstream_gene_variant,,ENST00000554471,;	802	112	134	SUCCESS
L2HGDH	79944	.	GRCh37	14	50760900	50760900	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	55	0	ENST00000267436.4:c.473del	p.Gln158ArgfsTer7	p.Q158Rfs*7	ENST00000267436		158	cAg/cg	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS9698.1	473	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATTCTGGAGG	NONE	.	.	hmmpanther:PTHR13847:SF171,hmmpanther:PTHR13847,Pfam_domain:PF01266,Superfamily_domains:SSF51905	.	.	ENSP00000267436	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000267436	Transcript	.	.	ENSG00000087299	20499	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	L2HDH_HUMAN	L2HGDH	HGNC	.	.	UPI0000048F63	deletion	L2HGDH,frameshift_variant,p.Gln158ArgfsTer7,ENST00000421284,;L2HGDH,frameshift_variant,p.Gln158ArgfsTer7,ENST00000261699,;L2HGDH,frameshift_variant,p.Gln158ArgfsTer7,ENST00000267436,;L2HGDH,frameshift_variant,p.Gln158ArgfsTer7,ENST00000555610,;L2HGDH,frameshift_variant,p.Gln158ArgfsTer7,ENST00000555423,;L2HGDH,downstream_gene_variant,,ENST00000554191,;	871	55	73	SUCCESS
SIX6	4990	.	GRCh37	14	60976223	60976223	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	846	365	1158	1	ENST00000327720.5:c.107C>T	p.Ser36Leu	p.S36L	ENST00000327720	NM_007374.2	36	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS9747.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCGCTGC	NONE	.	.	hmmpanther:PTHR10390:SF12,hmmpanther:PTHR10390	.	.	ENSP00000328596	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000327720	Transcript	.	.	ENSG00000184302	10892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious(0.02)	.	SIX6_HUMAN	SIX6	HGNC	Q6P051_HUMAN,Q5M8S8_HUMAN	.	UPI000013E4DB	SNV	SIX6,missense_variant,p.Ser36Leu,ENST00000327720,;C14orf39,intron_variant,,ENST00000556799,;	555	1159	1212	SUCCESS
SIX4	51804	.	GRCh37	14	61180534	61180534	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374417781	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	104	0	ENST00000216513.4:c.1937C>T	p.Pro646Leu	p.P646L	ENST00000216513	NM_017420.4	646	cCg/cTg	0	A:0.0005	.	.	.	.	A	P/L	protein_coding	YES	CCDS9749.2	1937	MUTECT|MUSE	.	CCACCGGTGCA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22	.	A:0.0001	ENSP00000216513	.	3/3	.	.	.	.	.	.	.	.	rs374417781	3/3	PASS	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.636)	.	deleterious_low_confidence(0)	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,missense_variant,p.Pro646Leu,ENST00000216513,;SIX4,3_prime_UTR_variant,,ENST00000554079,;	1997	104	91	SUCCESS
WDR89	112840	.	GRCh37	14	64065604	64065604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1356749798	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	64	0	ENST00000267522.3:c.1057A>G	p.Ile353Val	p.I353V	ENST00000267522		353	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9759.1	1057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTATAGCTC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22889,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000378399	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394942	Transcript	.	.	ENSG00000140006	20489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.75)	.	WDR89_HUMAN	WDR89	HGNC	G3V4B8_HUMAN	.	UPI000000CBD9	SNV	WDR89,missense_variant,p.Ile353Val,ENST00000394942,;WDR89,missense_variant,p.Ile353Val,ENST00000267522,;WDR89,downstream_gene_variant,,ENST00000554717,;CTD-2302E22.2,non_coding_transcript_exon_variant,,ENST00000553983,;CTD-2302E22.5,upstream_gene_variant,,ENST00000603606,;HSPE1P2,upstream_gene_variant,,ENST00000554777,;	1146	64	75	SUCCESS
BATF	10538	.	GRCh37	14	75989066	75989066	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777932710	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	56	0	ENST00000286639.6:c.41G>A	p.Arg14His	p.R14H	ENST00000286639	NM_006399.3	14	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS9843.1	41	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCTCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF14	.	.	ENSP00000286639	.	1/3	.	.	.	.	.	.	.	.	rs777932710	1/3	PASS	ENST00000286639	Transcript	.	.	ENSG00000156127	958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.1)	.	BATF_HUMAN	BATF	HGNC	.	.	UPI0000073D64	SNV	BATF,missense_variant,p.Arg14His,ENST00000286639,;BATF,missense_variant,p.Arg14His,ENST00000555504,;BATF,intron_variant,,ENST00000555795,;	299	56	54	SUCCESS
NRXN3	9369	.	GRCh37	14	79746796	79746796	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	80	0	ENST00000557594.1:c.162G>A	p.Gln54=	p.Q54=	ENST00000557594		54	caG/caA	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9870.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGCACGA	NONE	.	.	.	.	.	ENSP00000451648	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODIFIER	12/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,synonymous_variant,p.%3D,ENST00000281127,;NRXN3,synonymous_variant,p.%3D,ENST00000557594,;NRXN3,synonymous_variant,p.%3D,ENST00000428277,;NRXN3,intron_variant,,ENST00000554719,;NRXN3,intron_variant,,ENST00000335750,;NRXN3,upstream_gene_variant,,ENST00000555073,;NRXN3,synonymous_variant,p.%3D,ENST00000555387,;NRXN3,intron_variant,,ENST00000554738,;	.	80	70	SUCCESS
HERC2P3	283755	.	GRCh37	15	20662851	20662851	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	56	0	ENST00000428453.1:n.1345A>G		p.*449*	ENST00000428453				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CTTAATGAGCG	NONE	.	.	.	.	.	.	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,downstream_gene_variant,,ENST00000412154,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,downstream_gene_variant,,ENST00000414804,;HERC2P3,upstream_gene_variant,,ENST00000426501,;HERC2P3,upstream_gene_variant,,ENST00000440441,;HERC2P3,upstream_gene_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000429926,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1345	56	69	SUCCESS
ARHGAP11A	9824	.	GRCh37	15	32908539	32908539	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	11	154	1	ENST00000361627.3:c.127G>C	p.Gly43Arg	p.G43R	ENST00000361627	NM_014783.3	43	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS10028.1	127	MUTECT|MUSE	.	AAATAGGGGTA	NONE	.	.	hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670,Gene3D:1.10.555.10,Superfamily_domains:SSF48350	.	.	ENSP00000355090	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000361627	Transcript	.	.	ENSG00000198826	15783	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.57)	.	RHGBA_HUMAN	ARHGAP11A	HGNC	B4DZN9_HUMAN	.	UPI0000071553	SNV	ARHGAP11A,missense_variant,p.Gly43Arg,ENST00000567348,;ARHGAP11A,missense_variant,p.Gly43Arg,ENST00000361627,;ARHGAP11A,missense_variant,p.Gly43Arg,ENST00000563864,;ARHGAP11A,intron_variant,,ENST00000565905,;ARHGAP11A,intron_variant,,ENST00000543522,;AC123768.4,upstream_gene_variant,,ENST00000576873,;RP11-1000B6.5,downstream_gene_variant,,ENST00000500941,;ARHGAP11A,downstream_gene_variant,,ENST00000563330,;	849	155	158	SUCCESS
TRPM7	54822	.	GRCh37	15	50884532	50884532	+	synonymous_variant	Silent	SNP	G	G	A	rs774234392	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	36	112	0	ENST00000313478.7:c.3900C>T	p.Ser1300=	p.S1300=	ENST00000313478	NM_017672.4	1300	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42035.1	3900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGGAGCT	NONE	byFrequency	.	hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	26/39	.	.	.	.	.	.	.	.	rs774234392	26/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,synonymous_variant,p.%3D,ENST00000560955,;TRPM7,synonymous_variant,p.%3D,ENST00000313478,;TRPM7,downstream_gene_variant,,ENST00000560284,;	4182	112	148	SUCCESS
ADAM10	102	.	GRCh37	15	58936148	58936148	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	89	0	ENST00000260408.3:c.765A>T	p.Thr255=	p.T255=	ENST00000260408	NM_001110.2	255	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10167.1	765	RADIA|MUTECT|MUSE|VARSCANS	.	TAAATTGTATC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF113,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF13574,Superfamily_domains:SSF55486	.	.	ENSP00000260408	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000260408	Transcript	1	.	ENSG00000137845	188	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADA10_HUMAN	ADAM10	HGNC	.	.	UPI00001254C8	SNV	ADAM10,synonymous_variant,p.%3D,ENST00000260408,;ADAM10,intron_variant,,ENST00000559053,;ADAM10,intron_variant,,ENST00000561288,;ADAM10,intron_variant,,ENST00000396140,;ADAM10,intron_variant,,ENST00000402627,;ADAM10,3_prime_UTR_variant,,ENST00000396136,;	1209	89	90	SUCCESS
HEXA	3073	.	GRCh37	15	72638540	72638540	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	26	119	0	ENST00000268097.5:c.1421+36C>A		p.*474*	ENST00000268097	NM_000520.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10243.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGGCCCA	NONE	.	.	.	.	.	ENSP00000268097	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268097	Transcript	1	.	ENSG00000213614	4878	.	.	MODIFIER	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXA_HUMAN	HEXA	HGNC	H3BS10_HUMAN,G3XL83_HUMAN	.	UPI000013D798	SNV	HEXA,3_prime_UTR_variant,,ENST00000429918,;HEXA,intron_variant,,ENST00000566304,;HEXA,intron_variant,,ENST00000268097,;HEXA,intron_variant,,ENST00000567159,;HEXA,intron_variant,,ENST00000457859,;RP11-106M3.3,non_coding_transcript_exon_variant,,ENST00000570175,;RP11-106M3.2,intron_variant,,ENST00000379915,;HEXA,downstream_gene_variant,,ENST00000569509,;HEXA,3_prime_UTR_variant,,ENST00000563762,;HEXA,3_prime_UTR_variant,,ENST00000566672,;HEXA,intron_variant,,ENST00000568777,;HEXA,intron_variant,,ENST00000567411,;HEXA,intron_variant,,ENST00000567027,;HEXA,upstream_gene_variant,,ENST00000569116,;HEXA,upstream_gene_variant,,ENST00000564677,;HEXA,downstream_gene_variant,,ENST00000569410,;HEXA,downstream_gene_variant,,ENST00000568260,;HEXA,upstream_gene_variant,,ENST00000565873,;	.	119	142	SUCCESS
NPTN	27020	.	GRCh37	15	73889554	73889554	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	44	147	0	ENST00000345330.4:c.248G>T	p.Arg83Leu	p.R83L	ENST00000345330	NM_012428.3	83	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS10249.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCGAGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF5,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000290401	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000345330	Transcript	.	.	ENSG00000156642	17867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	NPTN_HUMAN	NPTN	HGNC	Q9UFM8_HUMAN,H3BQ94_HUMAN	.	UPI0000072D5C	SNV	NPTN,missense_variant,p.Arg46Leu,ENST00000567198,;NPTN,missense_variant,p.Arg46Leu,ENST00000565282,;NPTN,missense_variant,p.Arg83Leu,ENST00000563691,;NPTN,missense_variant,p.Arg83Leu,ENST00000545878,;NPTN,missense_variant,p.Arg83Leu,ENST00000345330,;NPTN,missense_variant,p.Arg83Leu,ENST00000287226,;NPTN,intron_variant,,ENST00000562924,;NPTN,intron_variant,,ENST00000565325,;NPTN,intron_variant,,ENST00000351217,;NPTN,intron_variant,,ENST00000542234,;NPTN,intron_variant,,ENST00000564551,;NPTN,intron_variant,,ENST00000563753,;	446	147	200	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79090369	79090369	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	37	0	ENST00000388820.4:c.543T>C	p.His181=	p.H181=	ENST00000388820	NM_014272.3	181	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS32303.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACATGGGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,Pfam_domain:PF01562	.	.	ENSP00000373472	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,synonymous_variant,p.%3D,ENST00000388820,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	754	37	62	SUCCESS
SCNN1G	6340	.	GRCh37	16	23200752	23200752	+	synonymous_variant	Silent	SNP	G	G	A	rs780895115	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	61	95	0	ENST00000300061.2:c.378G>A	p.Lys126=	p.K126=	ENST00000300061	NM_001039.3	126	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS10608.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGTCCCT	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	.	.	ENSP00000300061	.	3/13	.	.	.	.	.	.	.	.	rs780895115	3/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,synonymous_variant,p.%3D,ENST00000300061,;	521	95	71	SUCCESS
SCNN1G	6340	.	GRCh37	16	23223412	23223412	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	40	62	0	ENST00000300061.2:c.1234T>A	p.Tyr412Asn	p.Y412N	ENST00000300061	NM_001039.3	412	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS10608.1	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTACAGC	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859,Prints_domain:PR01078	.	.	ENSP00000300061	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,missense_variant,p.Tyr412Asn,ENST00000300061,;CTC-391G2.1,intron_variant,,ENST00000563471,;	1377	62	47	SUCCESS
CDH11	1009	.	GRCh37	16	65005962	65005962	+	synonymous_variant	Silent	SNP	G	G	T	rs781127265	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	65	151	0	ENST00000268603.4:c.1396C>A	p.Arg466=	p.R466=	ENST00000268603	NM_001797.2	466	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10803.1	1396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCGATTGT	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268603	.	10/13	.	.	.	.	.	.	.	.	rs781127265,COSM972137	10/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,synonymous_variant,p.%3D,ENST00000268603,;CDH11,synonymous_variant,p.%3D,ENST00000566827,;CDH11,non_coding_transcript_exon_variant,,ENST00000569095,;	2012	151	87	SUCCESS
DYNC1LI2	1783	.	GRCh37	16	66776358	66776358	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1567455735	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	71	0	ENST00000258198.2:c.512G>A	p.Arg171Lys	p.R171K	ENST00000258198	NM_006141.2	171	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS10818.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCTCATT	NONE	.	.	hmmpanther:PTHR12688,hmmpanther:PTHR12688:SF1,Pfam_domain:PF05783	.	.	ENSP00000258198	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000258198	Transcript	.	.	ENSG00000135720	2966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.67)	.	DC1L2_HUMAN	DYNC1LI2	HGNC	.	.	UPI0000129A0D	SNV	DYNC1LI2,missense_variant,p.Arg171Lys,ENST00000258198,;DYNC1LI2,missense_variant,p.Arg133Lys,ENST00000566150,;DYNC1LI2,missense_variant,p.Arg171Lys,ENST00000379482,;DYNC1LI2,missense_variant,p.Arg132Lys,ENST00000440564,;DYNC1LI2,intron_variant,,ENST00000443351,;RP11-63M22.1,downstream_gene_variant,,ENST00000565082,;DYNC1LI2,3_prime_UTR_variant,,ENST00000568180,;DYNC1LI2,3_prime_UTR_variant,,ENST00000564090,;	719	71	49	SUCCESS
AARS	0	.	GRCh37	16	70304225	70304225	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	64	88	0	ENST00000261772.8:c.690G>T	p.Leu230=	p.L230=	ENST00000261772	NM_001605.2	230	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32474.1	690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCAGAAT	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344,Gene3D:3.30.930.10,Pfam_domain:PF01411,Superfamily_domains:SSF55681	.	.	ENSP00000261772	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000261772	Transcript	.	.	ENSG00000090861	20	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYAC_HUMAN	AARS	HGNC	.	.	UPI0000169F0B	SNV	AARS,synonymous_variant,p.%3D,ENST00000261772,;AARS,upstream_gene_variant,,ENST00000569790,;AARS,upstream_gene_variant,,ENST00000566969,;	834	88	85	SUCCESS
SF3B3	23450	.	GRCh37	16	70588395	70588395	+	synonymous_variant	Silent	SNP	A	A	G	rs1567419610	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	88	0	ENST00000302516.5:c.1449A>G	p.Leu483=	p.L483=	ENST00000302516	NM_012426.4	483	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS10894.1	1449	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTAGTGTT	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Pfam_domain:PF10433	.	.	ENSP00000305790	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,synonymous_variant,p.%3D,ENST00000302516,;SF3B3,3_prime_UTR_variant,,ENST00000567635,;SF3B3,non_coding_transcript_exon_variant,,ENST00000568291,;SF3B3,non_coding_transcript_exon_variant,,ENST00000567250,;	1660	88	75	SUCCESS
DNAAF1	123872	.	GRCh37	16	84203498	84203498	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752401333	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	82	150	1	ENST00000378553.5:c.1064T>C	p.Val355Ala	p.V355A	ENST00000378553	NM_178452.4	355	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10943.2	1064	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTGCCCG	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208	.	.	ENSP00000367815	.	8/12	.	.	.	.	.	.	.	.	rs752401333	8/12	PASS	ENST00000378553	Transcript	.	.	ENSG00000154099	30539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.39)	.	DAAF1_HUMAN	DNAAF1	HGNC	H3BP51_HUMAN	.	UPI000059D3C9	SNV	DNAAF1,missense_variant,p.Val355Ala,ENST00000378553,;DNAAF1,missense_variant,p.Val355Ala,ENST00000334315,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,missense_variant,p.Val355Ala,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;	1188	151	108	SUCCESS
KLHL36	79786	.	GRCh37	16	84691009	84691009	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1261137246	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	46	0	ENST00000564996.1:c.596G>A	p.Ser199Asn	p.S199N	ENST00000564996	NM_024731.2	199	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS10948.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGCAGCG	NONE	.	.	SMART_domains:SM00875,PIRSF_domain:PIRSF037037,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF161,hmmpanther:PTHR24412	.	.	ENSP00000456743	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000564996	Transcript	.	.	ENSG00000135686	17844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	KLH36_HUMAN	KLHL36	HGNC	H3BQW5_HUMAN,H3BQE9_HUMAN,H3BPB9_HUMAN	.	UPI000006F9CF	SNV	KLHL36,missense_variant,p.Ser199Asn,ENST00000258157,;KLHL36,missense_variant,p.Ser199Asn,ENST00000564996,;KLHL36,downstream_gene_variant,,ENST00000565743,;KLHL36,downstream_gene_variant,,ENST00000567410,;KLHL36,downstream_gene_variant,,ENST00000569472,;KLHL36,upstream_gene_variant,,ENST00000564159,;KLHL36,upstream_gene_variant,,ENST00000325279,;	737	46	22	SUCCESS
ZCCHC14	23174	.	GRCh37	16	87443913	87443913	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	60	1	ENST00000268616.4:c.2823A>T	p.Pro941=	p.P941=	ENST00000268616	NM_015144.2	941	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10961.1	2823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTGGAGG	NONE	.	.	hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195	.	.	ENSP00000268616	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000268616	Transcript	.	.	ENSG00000140948	24134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCH14_HUMAN	ZCCHC14	HGNC	.	.	UPI00000705C4	SNV	ZCCHC14,synonymous_variant,p.%3D,ENST00000268616,;ZCCHC14,downstream_gene_variant,,ENST00000561928,;ZCCHC14,synonymous_variant,p.%3D,ENST00000568020,;	3041	61	46	SUCCESS
MYH4	4622	.	GRCh37	17	10363528	10363528	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	8	123	0	ENST00000255381.2:c.1258G>C	p.Val420Leu	p.V420L	ENST00000255381	NM_017533.2	420	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS11154.1	1258	MUTECT|MUSE	.	CTGCACAGTCT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000255381	.	13/40	.	.	.	.	.	.	.	.	.	13/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.669)	.	deleterious(0.02)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Val420Leu,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1369	123	118	SUCCESS
MYH1	4619	.	GRCh37	17	10398293	10398293	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	50	100	1	ENST00000226207.5:c.5421G>A	p.Leu1807=	p.L1807=	ENST00000226207	NM_005963.3	1807	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11155.1	5421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCAGCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000226207	.	37/40	.	.	.	.	.	.	.	.	.	37/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5516	102	111	SUCCESS
MYO1C	4641	.	GRCh37	17	1371776	1371776	+	synonymous_variant	Silent	SNP	G	G	C	rs374091489	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	44	0	ENST00000359786.5:c.2625C>G	p.Ala875=	p.A875=	ENST00000359786	NM_001080779.1	875	gcC/gcG	0	A:0	.	.	.	.	C	A	protein_coding	YES	CCDS42226.1	2625	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGGCCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13140:SF255,hmmpanther:PTHR13140,Pfam_domain:PF06017	.	A:0.0001	ENSP00000352834	.	26/32	.	.	.	.	.	.	.	.	rs374091489,COSM3889338,COSM3889337	26/32	PASS	ENST00000359786	Transcript	.	.	ENSG00000197879	7597	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	MYO1C_HUMAN	MYO1C	HGNC	I3L4D4_HUMAN,I3L3Y6_HUMAN,I3L3F5_HUMAN,I3L204_HUMAN,I3L168_HUMAN	.	UPI0000200579	SNV	MYO1C,synonymous_variant,p.%3D,ENST00000545534,;MYO1C,synonymous_variant,p.%3D,ENST00000438665,;MYO1C,synonymous_variant,p.%3D,ENST00000361007,;MYO1C,synonymous_variant,p.%3D,ENST00000575158,;MYO1C,synonymous_variant,p.%3D,ENST00000359786,;MYO1C,non_coding_transcript_exon_variant,,ENST00000574341,;MYO1C,non_coding_transcript_exon_variant,,ENST00000574308,;MYO1C,downstream_gene_variant,,ENST00000575011,;MYO1C,downstream_gene_variant,,ENST00000572615,;MYO1C,downstream_gene_variant,,ENST00000571615,;MYO1C,downstream_gene_variant,,ENST00000575864,;	2950	44	54	SUCCESS
SGSM2	9905	.	GRCh37	17	2276666	2276666	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	50	0	ENST00000426855.2:c.1824A>G	p.Ala608=	p.A608=	ENST00000426855	NM_001098509.1	608	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS32526.1	1959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCAGAGTG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF194,hmmpanther:PTHR22957,SMART_domains:SM00164	.	.	ENSP00000268989	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000268989	Transcript	.	.	ENSG00000141258	29026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGSM2_HUMAN	SGSM2	HGNC	I3L1Y7_HUMAN	.	UPI0000160300	SNV	SGSM2,synonymous_variant,p.%3D,ENST00000268989,;SGSM2,synonymous_variant,p.%3D,ENST00000426855,;SGSM2,synonymous_variant,p.%3D,ENST00000574563,;SGSM2,upstream_gene_variant,,ENST00000573851,;RP1-59D14.5,downstream_gene_variant,,ENST00000574290,;RP1-59D14.5,downstream_gene_variant,,ENST00000573007,;SGSM2,non_coding_transcript_exon_variant,,ENST00000574857,;SGSM2,non_coding_transcript_exon_variant,,ENST00000574250,;SGSM2,non_coding_transcript_exon_variant,,ENST00000573717,;SGSM2,downstream_gene_variant,,ENST00000575367,;SGSM2,upstream_gene_variant,,ENST00000572841,;	2136	50	51	SUCCESS
MYO18A	399687	.	GRCh37	17	27419423	27419423	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1306166196	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	32	0	ENST00000527372.1:c.5125A>G	p.Met1709Val	p.M1709V	ENST00000527372	NM_078471.3	1709	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS45642.1	5125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATTGCTT	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293	.	.	ENSP00000437073	.	34/42	.	.	.	.	.	.	.	.	.	34/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.457)	.	tolerated(0.16)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Met1709Val,ENST00000527372,;MYO18A,missense_variant,p.Met1672Val,ENST00000533112,;MYO18A,missense_variant,p.Met1709Val,ENST00000354329,;MYO18A,missense_variant,p.Met1709Val,ENST00000531253,;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000530557,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,downstream_gene_variant,,ENST00000533652,;	5306	32	41	SUCCESS
MYO18A	399687	.	GRCh37	17	27434112	27434112	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	46	187	1	ENST00000527372.1:c.3427G>T	p.Val1143Leu	p.V1143L	ENST00000527372	NM_078471.3	1143	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS45642.1	3427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACCACGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,PROSITE_profiles:PS51456	.	.	ENSP00000437073	.	20/42	.	.	.	.	.	.	.	.	.	20/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.44)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Val1143Leu,ENST00000354329,;MYO18A,missense_variant,p.Val1143Leu,ENST00000527372,;MYO18A,missense_variant,p.Val1143Leu,ENST00000533112,;MYO18A,missense_variant,p.Val1143Leu,ENST00000531253,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000532143,;MYO18A,downstream_gene_variant,,ENST00000533399,;	3608	188	181	SUCCESS
GGNBP2	79893	.	GRCh37	17	34916707	34916707	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	113	0	ENST00000304718.4:c.523T>C	p.Leu175=	p.L175=	ENST00000304718	NM_024835.4	175	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11314.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTTTGGGG	NONE	.	.	hmmpanther:PTHR13601	.	.	ENSP00000307617	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000304718	Transcript	.	.	ENSG00000005955	19357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGNB2_HUMAN	GGNBP2	HGNC	K7ELA8_HUMAN,B4DWN7_HUMAN	.	UPI00000728CB	SNV	GGNBP2,synonymous_variant,p.%3D,ENST00000304718,;GGNBP2,downstream_gene_variant,,ENST00000593016,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000486208,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000495023,;	839	113	104	SUCCESS
SYNRG	11276	.	GRCh37	17	35902159	35902159	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	27	106	1	ENST00000339208.6:c.3117C>T	p.Phe1039=	p.F1039=	ENST00000339208	NM_001163544.1	1039	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS11321.1	3117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAAGAAGTC	NONE	.	.	hmmpanther:PTHR15463	.	.	ENSP00000343610	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000339208	Transcript	.	.	ENSG00000006114	557	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNRG_HUMAN	SYNRG	HGNC	.	.	UPI000013C4EA	SNV	SYNRG,synonymous_variant,p.%3D,ENST00000345615,;SYNRG,synonymous_variant,p.%3D,ENST00000591427,;SYNRG,synonymous_variant,p.%3D,ENST00000394378,;SYNRG,synonymous_variant,p.%3D,ENST00000502449,;SYNRG,synonymous_variant,p.%3D,ENST00000591288,;SYNRG,synonymous_variant,p.%3D,ENST00000585472,;SYNRG,synonymous_variant,p.%3D,ENST00000339208,;SYNRG,synonymous_variant,p.%3D,ENST00000346661,;SYNRG,non_coding_transcript_exon_variant,,ENST00000421408,;SYNRG,upstream_gene_variant,,ENST00000508220,;	3258	107	112	SUCCESS
TUBG2	27175	.	GRCh37	17	40817531	40817531	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	129	0	ENST00000251412.7:c.644C>T	p.Thr215Ile	p.T215I	ENST00000251412	NM_016437.2	215	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS32658.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACAGACC	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF79,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	.	.	ENSP00000251412	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000251412	Transcript	.	.	ENSG00000037042	12419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.06)	.	TBG2_HUMAN	TUBG2	HGNC	.	.	UPI0000136A5C	SNV	TUBG2,missense_variant,p.Thr215Ile,ENST00000251412,;PLEKHH3,downstream_gene_variant,,ENST00000412503,;PLEKHH3,downstream_gene_variant,,ENST00000591022,;PLEKHH3,downstream_gene_variant,,ENST00000293349,;PLEKHH3,downstream_gene_variant,,ENST00000456950,;TUBG2,non_coding_transcript_exon_variant,,ENST00000588870,;PLEKHH3,downstream_gene_variant,,ENST00000591476,;PLEKHH3,downstream_gene_variant,,ENST00000591196,;TUBG2,downstream_gene_variant,,ENST00000590396,;PLEKHH3,downstream_gene_variant,,ENST00000591490,;	843	129	105	SUCCESS
NBR1	4077	.	GRCh37	17	41347008	41347008	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	276	20	274	0	ENST00000341165.6:c.1702A>G	p.Ile568Val	p.I568V	ENST00000341165	NM_031862.2	568	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS45694.1	1702	MUTECT|MUSE	.	TGGATATAAAC	NONE	.	.	hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,missense_variant,p.Ile568Val,ENST00000422280,;NBR1,missense_variant,p.Ile568Val,ENST00000589872,;NBR1,missense_variant,p.Ile568Val,ENST00000389312,;NBR1,missense_variant,p.Ile547Val,ENST00000542611,;NBR1,missense_variant,p.Ile568Val,ENST00000341165,;NBR1,missense_variant,p.Ile568Val,ENST00000590996,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;	2161	274	297	SUCCESS
PYY	5697	.	GRCh37	17	42081799	42081799	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	26	100	0	ENST00000360085.2:c.-503C>G		p.*168*	ENST00000360085	NM_004160.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32662.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCTCGGCCCC	NONE	.	.	.	.	.	ENSP00000353198	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000360085	Transcript	.	.	ENSG00000131096	9748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PYY_HUMAN	PYY	HGNC	.	.	UPI000013CDD0	SNV	PYY,5_prime_UTR_variant,,ENST00000360085,;NAGS,upstream_gene_variant,,ENST00000589767,;NAGS,upstream_gene_variant,,ENST00000293404,;NAGS,upstream_gene_variant,,ENST00000592915,;	39	100	93	SUCCESS
FMNL1	752	.	GRCh37	17	43310645	43310645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	75	0	ENST00000331495.3:c.382C>A	p.Leu128Met	p.L128M	ENST00000331495	NM_005892.3	128	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS11497.1	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCTGAGG	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Pfam_domain:PF06371,Superfamily_domains:SSF48371	.	.	ENSP00000329219	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000331495	Transcript	.	.	ENSG00000184922	1212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FMNL_HUMAN	FMNL1	HGNC	.	.	UPI0000246EE9	SNV	FMNL1,missense_variant,p.Leu128Met,ENST00000331495,;FMNL1,missense_variant,p.Leu128Met,ENST00000328118,;CTD-2020K17.3,downstream_gene_variant,,ENST00000587534,;FMNL1,non_coding_transcript_exon_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000592527,;FMNL1,non_coding_transcript_exon_variant,,ENST00000585852,;FMNL1,upstream_gene_variant,,ENST00000591434,;FMNL1,upstream_gene_variant,,ENST00000587856,;	718	75	68	SUCCESS
TEX2	55852	.	GRCh37	17	62291064	62291064	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	8	69	0	ENST00000583097.1:c.514A>T	p.Ile172Phe	p.I172F	ENST00000583097		172	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS11658.1	514	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGATGGGAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000258991	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.126)	.	tolerated(0.7)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Ile172Phe,ENST00000584379,;TEX2,missense_variant,p.Ile172Phe,ENST00000258991,;TEX2,missense_variant,p.Ile172Phe,ENST00000583097,;TEX2,downstream_gene_variant,,ENST00000583922,;TEX2,upstream_gene_variant,,ENST00000583501,;TEX2,downstream_gene_variant,,ENST00000583738,;	599	69	86	SUCCESS
EVPL	2125	.	GRCh37	17	74019445	74019445	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	71	0	ENST00000301607.3:c.408G>A	p.Leu136=	p.L136=	ENST00000301607	NM_001988.2	136	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11737.1	408	MUTECT|MUSE	.	TCGTACAGGGC	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,synonymous_variant,p.%3D,ENST00000586740,;EVPL,synonymous_variant,p.%3D,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	662	71	91	SUCCESS
C17orf99	100141515	.	GRCh37	17	76157076	76157076	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	25	141	0	ENST00000340363.5:c.111A>G	p.Glu37=	p.E37=	ENST00000340363	NM_001163075.1	37	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS54171.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAAGTTTT	NONE	.	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF53	.	.	ENSP00000343493	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000340363	Transcript	.	.	ENSG00000187997	34490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ099_HUMAN	C17orf99	HGNC	.	.	UPI000049DE67	SNV	C17orf99,missense_variant,p.Ser100Gly,ENST00000586999,;C17orf99,synonymous_variant,p.%3D,ENST00000340363,;C17orf99,synonymous_variant,p.%3D,ENST00000591995,;C17orf99,non_coding_transcript_exon_variant,,ENST00000451352,;C17orf99,upstream_gene_variant,,ENST00000586029,;C17orf99,upstream_gene_variant,,ENST00000586246,;EIF5AP2,downstream_gene_variant,,ENST00000585668,;	166	141	154	SUCCESS
DDC8	0	.	GRCh37	17	76898001	76898001	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs183928007	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	48	0	ENST00000322630.2:c.-91C>A		p.*31*	ENST00000322630	NM_001243540.1			0	.	A:0	.	A:0.0043	.	T	.	protein_coding	YES	CCDS58603.1	.	MUTECT|MUSE	.	GAGACGCCCAT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000312767	A:0.002	2/3	.	.	.	.	.	.	.	.	rs183928007	2/3	PASS	ENST00000322630	Transcript	.	A:0.0034	ENSG00000178404	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0123	.	.	DDC8_HUMAN	DDC8	Uniprot_gn	.	.	UPI0000071A46	SNV	DDC8,5_prime_UTR_variant,,ENST00000586713,;DDC8,5_prime_UTR_variant,,ENST00000322630,;TIMP2,intron_variant,,ENST00000536189,;TIMP2,intron_variant,,ENST00000262768,;CTD-2373H9.5,upstream_gene_variant,,ENST00000591108,;DDC8,non_coding_transcript_exon_variant,,ENST00000590267,;DDC8,non_coding_transcript_exon_variant,,ENST00000587052,;	76	48	61	SUCCESS
BAIAP2	10458	.	GRCh37	17	79077867	79077867	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	61	187	0	ENST00000321300.6:c.1025C>T	p.Pro342Leu	p.P342L	ENST00000321300	NM_001144888.1	342	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11775.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCCGTGC	NONE	.	.	hmmpanther:PTHR14206:SF3,hmmpanther:PTHR14206	.	.	ENSP00000316338	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000321300	Transcript	.	.	ENSG00000175866	947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	BAIP2_HUMAN	BAIAP2	HGNC	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN	.	UPI000000D762	SNV	BAIAP2,missense_variant,p.Pro342Leu,ENST00000428708,;BAIAP2,missense_variant,p.Pro342Leu,ENST00000435091,;BAIAP2,missense_variant,p.Pro342Leu,ENST00000321300,;BAIAP2,missense_variant,p.Pro205Leu,ENST00000416299,;BAIAP2,missense_variant,p.Pro375Leu,ENST00000575245,;BAIAP2,missense_variant,p.Pro342Leu,ENST00000575712,;BAIAP2,missense_variant,p.Pro99Leu,ENST00000576756,;BAIAP2,missense_variant,p.Pro264Leu,ENST00000392411,;BAIAP2,missense_variant,p.Pro23Leu,ENST00000572498,;BAIAP2,missense_variant,p.Pro342Leu,ENST00000321280,;BAIAP2,intron_variant,,ENST00000575841,;BAIAP2,downstream_gene_variant,,ENST00000572918,;BAIAP2,downstream_gene_variant,,ENST00000572073,;BAIAP2,downstream_gene_variant,,ENST00000575958,;BAIAP2,downstream_gene_variant,,ENST00000573659,;BAIAP2,downstream_gene_variant,,ENST00000573677,;BAIAP2,downstream_gene_variant,,ENST00000573017,;BAIAP2,downstream_gene_variant,,ENST00000576364,;BAIAP2,downstream_gene_variant,,ENST00000574027,;BAIAP2,3_prime_UTR_variant,,ENST00000572329,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000576225,;BAIAP2,downstream_gene_variant,,ENST00000574804,;BAIAP2,upstream_gene_variant,,ENST00000576995,;BAIAP2,downstream_gene_variant,,ENST00000577097,;	1118	187	205	SUCCESS
ARL16	339231	.	GRCh37	17	79650941	79650941	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	76	0	ENST00000397498.4:c.-86C>T		p.*29*	ENST00000397498	NM_001040025.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45813.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCGGGAGAG	NONE	.	.	.	.	.	ENSP00000380635	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000397498	Transcript	.	.	ENSG00000214087	27902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL16_HUMAN	ARL16	HGNC	I3L4Z7_HUMAN,I3L196_HUMAN,B4E3H0_HUMAN	.	UPI000041AA0B	SNV	ARL16,5_prime_UTR_variant,,ENST00000397498,;HGS,intron_variant,,ENST00000571518,;ARL16,upstream_gene_variant,,ENST00000573392,;ARL16,upstream_gene_variant,,ENST00000576135,;HGS,upstream_gene_variant,,ENST00000577012,;HGS,upstream_gene_variant,,ENST00000329138,;HGS,upstream_gene_variant,,ENST00000572392,;ARL16,upstream_gene_variant,,ENST00000574938,;ARL16,upstream_gene_variant,,ENST00000570561,;HGS,upstream_gene_variant,,ENST00000576498,;ARL16,upstream_gene_variant,,ENST00000570910,;ARL16,upstream_gene_variant,,ENST00000573715,;ARL16,upstream_gene_variant,,ENST00000576914,;ARL16,upstream_gene_variant,,ENST00000572937,;HGS,upstream_gene_variant,,ENST00000576087,;ARL16,upstream_gene_variant,,ENST00000572704,;ARL16,upstream_gene_variant,,ENST00000571082,;HGS,upstream_gene_variant,,ENST00000576393,;ARL16,upstream_gene_variant,,ENST00000573569,;ARL16,upstream_gene_variant,,ENST00000577142,;	14	76	70	SUCCESS
ARL16	339231	.	GRCh37	17	79650942	79650942	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	77	0	ENST00000397498.4:c.-87C>T		p.*29*	ENST00000397498	NM_001040025.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45813.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGGAGAGC	NONE	.	.	.	.	.	ENSP00000380635	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000397498	Transcript	.	.	ENSG00000214087	27902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL16_HUMAN	ARL16	HGNC	I3L4Z7_HUMAN,I3L196_HUMAN,B4E3H0_HUMAN	.	UPI000041AA0B	SNV	ARL16,5_prime_UTR_variant,,ENST00000397498,;HGS,intron_variant,,ENST00000571518,;ARL16,upstream_gene_variant,,ENST00000573392,;ARL16,upstream_gene_variant,,ENST00000576135,;HGS,upstream_gene_variant,,ENST00000577012,;HGS,upstream_gene_variant,,ENST00000329138,;HGS,upstream_gene_variant,,ENST00000572392,;ARL16,upstream_gene_variant,,ENST00000574938,;ARL16,upstream_gene_variant,,ENST00000570561,;HGS,upstream_gene_variant,,ENST00000576498,;ARL16,upstream_gene_variant,,ENST00000570910,;ARL16,upstream_gene_variant,,ENST00000573715,;ARL16,upstream_gene_variant,,ENST00000576914,;ARL16,upstream_gene_variant,,ENST00000572937,;HGS,upstream_gene_variant,,ENST00000576087,;ARL16,upstream_gene_variant,,ENST00000572704,;ARL16,upstream_gene_variant,,ENST00000571082,;HGS,upstream_gene_variant,,ENST00000576393,;ARL16,upstream_gene_variant,,ENST00000573569,;ARL16,upstream_gene_variant,,ENST00000577142,;	13	77	68	SUCCESS
DSG1	1828	.	GRCh37	18	28934321	28934321	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773377615	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	85	0	ENST00000257192.4:c.2162A>G	p.Tyr721Cys	p.Y721C	ENST00000257192	NM_001942.2	721	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11896.1	2162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATATGACA	NONE	byFrequency	.	hmmpanther:PTHR24025:SF9,hmmpanther:PTHR24025,Gene3D:4.10.900.10,Pfam_domain:PF01049,Prints_domain:PR01819	.	.	ENSP00000257192	.	15/15	.	.	.	.	.	.	.	.	rs773377615	15/15	PASS	ENST00000257192	Transcript	.	.	ENSG00000134760	3048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DSG1_HUMAN	DSG1	HGNC	B7Z845_HUMAN	.	UPI000013CF4C	SNV	DSG1,missense_variant,p.Tyr80Cys,ENST00000462981,;DSG1,missense_variant,p.Tyr721Cys,ENST00000257192,;RP11-534N16.1,non_coding_transcript_exon_variant,,ENST00000581856,;RP11-534N16.1,non_coding_transcript_exon_variant,,ENST00000578477,;RP11-534N16.1,non_coding_transcript_exon_variant,,ENST00000581452,;RP11-534N16.1,upstream_gene_variant,,ENST00000578119,;	2374	85	59	SUCCESS
PIGN	23556	.	GRCh37	18	59777111	59777111	+	synonymous_variant	Silent	SNP	T	T	C	rs373958969	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	126	221	1	ENST00000357637.5:c.1530A>G	p.Val510=	p.V510=	ENST00000357637	NM_176787.4	510	gtA/gtG	0	C:0.0003	.	.	.	.	C	V	protein_coding	YES	CCDS45879.1	1530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATATACATA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12250,Pfam_domain:PF04987	.	C:0	ENSP00000350263	.	17/31	.	.	.	.	.	.	.	.	rs373958969	17/31	PASS	ENST00000357637	Transcript	.	.	ENSG00000197563	8967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGN_HUMAN	PIGN	HGNC	K7ESH9_HUMAN,K7ERX5_HUMAN,K7EQG0_HUMAN,K7EPN0_HUMAN,K7ENC3_HUMAN,K7EMD7_HUMAN,K7EM45_HUMAN,K7ELE1_HUMAN,K7EL34_HUMAN,K7EK83_HUMAN	.	UPI0000070A47	SNV	PIGN,synonymous_variant,p.%3D,ENST00000400334,;PIGN,synonymous_variant,p.%3D,ENST00000357637,;PIGN,intron_variant,,ENST00000586566,;PIGN,synonymous_variant,p.%3D,ENST00000590948,;PIGN,non_coding_transcript_exon_variant,,ENST00000587942,;	1946	222	161	SUCCESS
SERPINB11	89778	.	GRCh37	18	61387261	61387261	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	8	119	0	ENST00000544088.1:c.490C>G	p.Leu164Val	p.L164V	ENST00000544088	NM_080475.2	164	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	.	490	MUTECT|MUSE	.	CAAATCTCTTT	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF137,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000441497	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000544088	Transcript	.	.	ENSG00000206072	14221	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.939)	.	deleterious(0.01)	.	.	SERPINB11	HGNC	F5GYW9_HUMAN,F5GWT8_HUMAN	.	UPI00015AAB67	SNV	SERPINB11,missense_variant,p.Leu164Val,ENST00000544088,;SERPINB11,5_prime_UTR_variant,,ENST00000536691,;SERPINB11,intron_variant,,ENST00000538847,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;SERPINB11,downstream_gene_variant,,ENST00000467649,;SERPINB11,missense_variant,p.Leu164Val,ENST00000382749,;	552	119	92	SUCCESS
NETO1	81832	.	GRCh37	18	70526062	70526062	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	145	0	ENST00000327305.6:c.468T>A		p.X156_splice	ENST00000327305	NM_138966.3	156	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12000.1	468	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTACCAGGTGT	NONE	.	.	hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127	.	.	ENSP00000313088	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,synonymous_variant,p.%3D,ENST00000327305,;NETO1,synonymous_variant,p.%3D,ENST00000583169,;NETO1,synonymous_variant,p.%3D,ENST00000397929,;NETO1,synonymous_variant,p.%3D,ENST00000299430,;NETO1,downstream_gene_variant,,ENST00000579169,;NETO1,splice_region_variant,,ENST00000580049,;NETO1,intron_variant,,ENST00000579730,;	1126	145	105	SUCCESS
ZNF763	284390	.	GRCh37	19	12089204	12089204	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	rs372060440	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	7	150	0	ENST00000358987.3:c.465T>G	p.Tyr155Ter	p.Y155*	ENST00000358987		155	taT/taG	0	C:0	.	.	.	.	G	Y/*	protein_coding	YES	CCDS45982.1	474	MUTECT|MUSE	.	AGATATCACCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF19,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	C:0.0001	ENSP00000369774	.	4/4	.	.	.	.	.	.	.	.	rs372060440	4/4	PASS	ENST00000343949	Transcript	.	.	ENSG00000197054	27614	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN763_HUMAN	ZNF763	HGNC	K7EJF3_HUMAN,B4DRE7_HUMAN	.	UPI00001609E5	SNV	ZNF763,stop_gained,p.Tyr175Ter,ENST00000538752,;ZNF763,stop_gained,p.Tyr158Ter,ENST00000343949,;ZNF763,stop_gained,p.Tyr33Ter,ENST00000586494,;ZNF763,stop_gained,p.Tyr33Ter,ENST00000545530,;ZNF763,stop_gained,p.Tyr175Ter,ENST00000590798,;ZNF763,stop_gained,p.Tyr155Ter,ENST00000358987,;ZNF763,3_prime_UTR_variant,,ENST00000592625,;ZNF763,downstream_gene_variant,,ENST00000481745,;ZNF763,downstream_gene_variant,,ENST00000591944,;ZNF763,downstream_gene_variant,,ENST00000591441,;ZNF763,downstream_gene_variant,,ENST00000586354,;	629	150	125	SUCCESS
BRD4	23476	.	GRCh37	19	15350628	15350628	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	33	55	0	ENST00000263377.2:c.3287T>C	p.Leu1096Pro	p.L1096P	ENST00000263377	NM_058243.2	1096	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS12328.1	3287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCAGCTCC	NONE	.	.	.	.	.	ENSP00000263377	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,missense_variant,p.Leu1096Pro,ENST00000263377,;AC004257.3,upstream_gene_variant,,ENST00000602793,;BRD4,downstream_gene_variant,,ENST00000594066,;	3509	55	41	SUCCESS
UNC13A	23025	.	GRCh37	19	17759295	17759295	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	32	36	0	ENST00000519716.2:c.1761C>T	p.Cys587=	p.C587=	ENST00000519716	NM_001080421.2	587	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46013.2	1761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGCACTC	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR10480,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000429562	.	16/44	.	.	.	.	.	.	.	.	COSM363820,COSM363821	16/44	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,synonymous_variant,p.%3D,ENST00000252773,;UNC13A,synonymous_variant,p.%3D,ENST00000519716,;UNC13A,synonymous_variant,p.%3D,ENST00000550896,;UNC13A,synonymous_variant,p.%3D,ENST00000552293,;UNC13A,synonymous_variant,p.%3D,ENST00000551649,;UNC13A,synonymous_variant,p.%3D,ENST00000428389,;	1761	36	36	SUCCESS
AP3D1	8943	.	GRCh37	19	2137025	2137045	+	inframe_deletion	In_Frame_Del	DEL	GGTGGTCAGCATGATGACGTC	GGTGGTCAGCATGATGACGTC	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	GGTGGTCAGCATGATGACGTC	GGTGGTCAGCATGATGACGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	81	0	ENST00000345016.5:c.319_339del	p.Asp107_Thr113del	p.D107_T113del	ENST00000345016	NM_003938.6	107	GACGTCATCATGCTGACCACC/-	0	.	.	.	.	.	-	DVIMLTT/-	protein_coding	YES	CCDS58638.1	319-339	VARSCANI*|PINDEL	.	CTGATTGGTGGTCAGCATGATGACGTCGGTGC	NONE	.	.	hmmpanther:PTHR22781,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371	.	.	ENSP00000347416	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000355272	Transcript	.	.	ENSG00000065000	568	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AP3D1_HUMAN	AP3D1	HGNC	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN	.	UPI0000202F99	deletion	AP3D1,inframe_deletion,p.Asp107_Thr113del,ENST00000356926,;AP3D1,inframe_deletion,p.Asp107_Thr113del,ENST00000350812,;AP3D1,inframe_deletion,p.Asp107_Thr113del,ENST00000355272,;AP3D1,inframe_deletion,p.Asp107_Thr113del,ENST00000345016,;AP3D1,non_coding_transcript_exon_variant,,ENST00000591284,;	526-546	81	60	SUCCESS
GPATCH1	55094	.	GRCh37	19	33579137	33579137	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	71	0	ENST00000170564.2:c.171C>T	p.Phe57=	p.F57=	ENST00000170564	NM_018025.2	57	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS12428.1	171	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCTCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384,Pfam_domain:PF07713	.	.	ENSP00000170564	.	2/20	.	.	.	.	.	.	.	.	COSM1304407	2/20	PASS	ENST00000170564	Transcript	.	.	ENSG00000076650	24658	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	GPTC1_HUMAN	GPATCH1	HGNC	.	.	UPI000004EC71	SNV	GPATCH1,synonymous_variant,p.%3D,ENST00000170564,;GPATCH1,synonymous_variant,p.%3D,ENST00000592165,;	485	71	76	SUCCESS
UBA2	10054	.	GRCh37	19	34925845	34925845	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	295	160	353	2	ENST00000246548.4:c.431A>G	p.Tyr144Cys	p.Y144C	ENST00000246548	NM_005499.2	144	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12439.1	431	RADIA|VARSCANS	.	TGGGTATCTTG	NONE	.	.	hmmpanther:PTHR10953,Gene3D:3.40.50.720,Pfam_domain:PF00899,Superfamily_domains:SSF69572	.	.	ENSP00000246548	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000246548	Transcript	.	.	ENSG00000126261	30661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	SAE2_HUMAN	UBA2	HGNC	U3KQ93_HUMAN,B3KWB9_HUMAN	.	UPI000004F09F	SNV	UBA2,missense_variant,p.Tyr48Cys,ENST00000439527,;UBA2,missense_variant,p.Tyr116Cys,ENST00000590048,;UBA2,missense_variant,p.Tyr144Cys,ENST00000246548,;UBA2,missense_variant,p.Ile71Val,ENST00000586313,;UBA2,3_prime_UTR_variant,,ENST00000607361,;UBA2,non_coding_transcript_exon_variant,,ENST00000592672,;UBA2,downstream_gene_variant,,ENST00000592841,;	501	355	455	SUCCESS
ZNF30	90075	.	GRCh37	19	35435284	35435284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	101	0	ENST00000601142.1:c.1414A>G	p.Thr472Ala	p.T472A	ENST00000601142		472	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46044.1	1417	RADIA|MUTECT|MUSE	.	ATCTCACACAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000403441	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000439785	Transcript	.	.	ENSG00000168661	13090	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.51)	.	ZNF30_HUMAN	ZNF30	HGNC	.	.	UPI0001596897	SNV	ZNF30,missense_variant,p.Thr473Ala,ENST00000439785,;ZNF30,missense_variant,p.Thr391Ala,ENST00000426813,;ZNF30,missense_variant,p.Thr473Ala,ENST00000303586,;ZNF30,missense_variant,p.Thr472Ala,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;	1861	101	117	SUCCESS
ZNF30	90075	.	GRCh37	19	35435313	35435313	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	41	95	0	ENST00000601142.1:c.1443A>G	p.Val481=	p.V481=	ENST00000601142		481	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS46044.1	1446	RADIA|MUTECT|MUSE	.	GATGTAAAGCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000403441	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000439785	Transcript	.	.	ENSG00000168661	13090	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF30_HUMAN	ZNF30	HGNC	.	.	UPI0001596897	SNV	ZNF30,synonymous_variant,p.%3D,ENST00000439785,;ZNF30,synonymous_variant,p.%3D,ENST00000426813,;ZNF30,synonymous_variant,p.%3D,ENST00000303586,;ZNF30,synonymous_variant,p.%3D,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;	1890	95	120	SUCCESS
ZNF585B	92285	.	GRCh37	19	37676552	37676552	+	synonymous_variant	Silent	SNP	T	T	C	rs576539227	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	194	225	2	ENST00000532828.2:c.1887A>G	p.Thr629=	p.T629=	ENST00000532828	NM_152279.3	629	acA/acG	0	.	C:0.0008	.	C:0	.	C	T	protein_coding	YES	CCDS12500.1	1887	RADIA|SOMATICSNIPER|VARSCANS	.	TCTCCTGTGTG	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	C:0	.	ENSP00000433773	C:0	5/5	.	.	.	.	.	.	.	.	rs576539227	5/5	PASS	ENST00000532828	Transcript	.	C:0.0002	ENSG00000245680	30948	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0	.	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,synonymous_variant,p.%3D,ENST00000312908,;ZNF585B,synonymous_variant,p.%3D,ENST00000531805,;ZNF585B,synonymous_variant,p.%3D,ENST00000532828,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,downstream_gene_variant,,ENST00000591492,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	2139	227	357	SUCCESS
ZNF607	84775	.	GRCh37	19	38202519	38202519	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs1410253463	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	60	80	0	ENST00000355202.4:c.1A>G	p.Met1?	p.M1?	ENST00000355202	NM_032689.4	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS33006.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACATGGTTT	NONE	.	.	.	.	.	ENSP00000347338	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355202	Transcript	.	.	ENSG00000198182	28192	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious(0.01)	.	ZN607_HUMAN	ZNF607	HGNC	Q59G67_HUMAN,K7EN48_HUMAN	.	UPI000040BC07	SNV	ZNF607,start_lost,p.Met1?,ENST00000395835,;ZNF607,start_lost,p.Met1?,ENST00000591664,;ZNF607,start_lost,p.Met1?,ENST00000355202,;ZNF607,intron_variant,,ENST00000590670,;ZNF607,start_lost,p.Met1?,ENST00000586559,;CTD-2528L19.4,start_lost,p.Met1?,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;	597	80	117	SUCCESS
NUMBL	9253	.	GRCh37	19	41173904	41173904	+	synonymous_variant	Silent	SNP	T	T	C	rs79658769	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	35	87	2	ENST00000252891.4:c.1299A>G	p.Gln433=	p.Q433=	ENST00000252891	NM_004756.3	433	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS12561.1	1299	SOMATICSNIPER|VARSCANS	.	TGCTGTTGCTG	SITE|p.Q433Q|c.1299A>G|9	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11232:SF32,hmmpanther:PTHR11232,PIRSF_domain:PIRSF017607	.	.	ENSP00000252891	.	10/10	.	.	.	.	.	.	.	.	rs79658769,COSM1393865	10/10	PASS	ENST00000252891	Transcript	.	.	ENSG00000105245	8061	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	NUMBL_HUMAN	NUMBL	HGNC	M0R0Q4_HUMAN,M0QZV7_HUMAN,M0QYC2_HUMAN,B7Z5W0_HUMAN,A8K033_HUMAN	.	UPI000003032B	SNV	NUMBL,synonymous_variant,p.%3D,ENST00000540131,;NUMBL,synonymous_variant,p.%3D,ENST00000598779,;NUMBL,synonymous_variant,p.%3D,ENST00000252891,;	1467	89	125	SUCCESS
PSG7	5676	.	GRCh37	19	43430643	43430643	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	47	68	0	ENST00000406070.2:c.935T>C	p.Ile312Thr	p.I312T	ENST00000406070	NM_002783.2	312	aTa/aCa	0	.	.	.	.	.	G	I/T	polymorphic_pseudogene	YES	.	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTATTTCA	NONE	.	.	.	.	.	ENSP00000421986	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000406070	Transcript	.	.	ENSG00000221878	9524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.23)	.	.	PSG7	HGNC	.	.	.	SNV	PSG7,non_coding_transcript_exon_variant,,ENST00000599226,;PSG7,downstream_gene_variant,,ENST00000599620,;PSG7,missense_variant,p.Ile312Thr,ENST00000406070,;PSG7,missense_variant,p.Ile312Thr,ENST00000446844,;	1032	68	103	SUCCESS
ZNF155	7711	.	GRCh37	19	44500765	44500765	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	34	111	0	ENST00000270014.2:c.756A>G	p.Lys252=	p.K252=	ENST00000270014	NM_198089.2	252	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS58668.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAAATTACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF176,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000385163	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000407951	Transcript	.	.	ENSG00000204920	12940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN155_HUMAN	ZNF155	HGNC	Q16646_HUMAN	.	UPI0001AE64CF	SNV	ZNF155,synonymous_variant,p.%3D,ENST00000590615,;ZNF155,synonymous_variant,p.%3D,ENST00000270014,;ZNF155,synonymous_variant,p.%3D,ENST00000407951,;ZNF155,downstream_gene_variant,,ENST00000586454,;ZNF155,downstream_gene_variant,,ENST00000591532,;ZNF155,downstream_gene_variant,,ENST00000590411,;RP11-15A1.7,downstream_gene_variant,,ENST00000589021,;RP11-15A1.7,downstream_gene_variant,,ENST00000586860,;	982	111	174	SUCCESS
SNRNP70	6625	.	GRCh37	19	49604657	49604657	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	65	0	ENST00000598441.1:c.404T>G	p.Val135Gly	p.V135G	ENST00000598441		135	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS12756.1	404	MUTECT|MUSE	.	CATGGTCTACA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13952:SF5,hmmpanther:PTHR13952,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000472998	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000598441	Transcript	.	.	ENSG00000104852	11150	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	RU17_HUMAN	SNRNP70	HGNC	Q9UFS1_HUMAN,M0QX04_HUMAN	.	UPI00001352E4	SNV	SNRNP70,missense_variant,p.Val135Gly,ENST00000221448,;SNRNP70,missense_variant,p.Val135Gly,ENST00000598441,;SNRNP70,missense_variant,p.Val69Gly,ENST00000598984,;SNRNP70,downstream_gene_variant,,ENST00000601411,;SNRNP70,missense_variant,p.Val135Gly,ENST00000595231,;SNRNP70,missense_variant,p.Val135Gly,ENST00000401730,;SNRNP70,missense_variant,p.Val135Gly,ENST00000601065,;SNRNP70,non_coding_transcript_exon_variant,,ENST00000599687,;SNRNP70,upstream_gene_variant,,ENST00000544278,;	628	65	105	SUCCESS
CDC34	997	.	GRCh37	19	536284	536284	+	synonymous_variant	Silent	SNP	C	C	T	rs1326670665	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	63	1	ENST00000215574.4:c.306C>T	p.Asp102=	p.D102=	ENST00000215574	NM_004359.1	102	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS12030.1	306	RADIA|MUTECT|VARSCANS	.	GTGGACGACCC	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF98,hmmpanther:PTHR24067,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000215574	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000215574	Transcript	.	.	ENSG00000099804	1734	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UB2R1_HUMAN	CDC34	HGNC	.	.	UPI000013795A	SNV	CDC34,synonymous_variant,p.%3D,ENST00000606065,;CDC34,synonymous_variant,p.%3D,ENST00000606136,;CDC34,synonymous_variant,p.%3D,ENST00000215574,;CDC34,splice_region_variant,,ENST00000607527,;CDC34,upstream_gene_variant,,ENST00000586283,;CDC34,upstream_gene_variant,,ENST00000593036,;CDC34,upstream_gene_variant,,ENST00000607629,;CDC34,non_coding_transcript_exon_variant,,ENST00000586788,;CDC34,upstream_gene_variant,,ENST00000606400,;	524	64	71	SUCCESS
PTPRH	5794	.	GRCh37	19	55715250	55715250	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	29	114	0	ENST00000376350.3:c.786C>T	p.Val262=	p.V262=	ENST00000376350	NM_002842.3	262	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33110.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTGACTCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000365528	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000376350	Transcript	.	.	ENSG00000080031	9672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,synonymous_variant,p.%3D,ENST00000376350,;PTPRH,intron_variant,,ENST00000263434,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,downstream_gene_variant,,ENST00000587662,;PTPRH,downstream_gene_variant,,ENST00000586310,;PTPRH,downstream_gene_variant,,ENST00000588370,;PTPRH,downstream_gene_variant,,ENST00000586852,;	809	114	155	SUCCESS
MUC16	94025	.	GRCh37	19	9038082	9038082	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	109	167	0	ENST00000397910.4:c.36194C>A	p.Ser12065Tyr	p.S12065Y	ENST00000397910	NM_024690.2	12065	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS54212.1	36194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	8/84	.	.	.	.	.	.	.	.	.	8/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser12065Tyr,ENST00000397910,;	36398	167	123	SUCCESS
STXBP3	6814	.	GRCh37	1	109321972	109321972	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	115	0	ENST00000370008.3:c.749A>G	p.His250Arg	p.H250R	ENST00000370008	NM_007269.2	250	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS790.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCATGAAC	NONE	.	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.40.50.1910,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33	.	.	ENSP00000359025	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,missense_variant,p.His250Arg,ENST00000370008,;STXBP3,non_coding_transcript_exon_variant,,ENST00000485167,;STXBP3,downstream_gene_variant,,ENST00000486601,;STXBP3,upstream_gene_variant,,ENST00000495245,;	799	115	63	SUCCESS
HIPK1	204851	.	GRCh37	1	114514596	114514596	+	intron_variant	Intron	SNP	G	G	A	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	29	112	0	ENST00000369558.1:c.3144+20G>A		p.*1048*	ENST00000369558				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS867.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGCCTTC	NONE	.	.	.	.	.	ENSP00000358571	.	.	.	.	.	.	.	.	.	.	COSM894154	.	PASS	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	MODIFIER	15/15	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,missense_variant,p.Cys1055Tyr,ENST00000369559,;HIPK1,intron_variant,,ENST00000361587,;HIPK1,intron_variant,,ENST00000369561,;HIPK1,intron_variant,,ENST00000369554,;HIPK1,intron_variant,,ENST00000406344,;HIPK1,intron_variant,,ENST00000426820,;HIPK1,intron_variant,,ENST00000369553,;HIPK1,intron_variant,,ENST00000369558,;HIPK1,intron_variant,,ENST00000369555,;HIPK1,intron_variant,,ENST00000340480,;	.	112	118	SUCCESS
SYCP1	6847	.	GRCh37	1	115487586	115487586	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	434	28	431	0	ENST00000369518.1:c.2137C>T	p.Leu713Phe	p.L713F	ENST00000369518		713	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS879.1	2137	MUTECT|MUSE	.	TAGCACTTATG	NONE	.	.	hmmpanther:PTHR18878,Pfam_domain:PF05483	.	.	ENSP00000358535	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000369522	Transcript	.	.	ENSG00000198765	11487	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYCP1_HUMAN	SYCP1	HGNC	Q5VXJ5_HUMAN	.	UPI00001CE3B9	SNV	SYCP1,missense_variant,p.Leu713Phe,ENST00000455987,;SYCP1,missense_variant,p.Leu713Phe,ENST00000369518,;SYCP1,missense_variant,p.Leu713Phe,ENST00000369522,;SYCP1,downstream_gene_variant,,ENST00000482717,;	2377	431	462	SUCCESS
ATP1A1OS	0	.	GRCh37	1	116948491	116948491	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	115	0	ENST00000369492.4:n.654T>C		p.*218*	ENST00000369492				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAAGTCAT	NONE	.	1097	.	.	.	ENSP00000445306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,intron_variant,,ENST00000440951,;ATP1A1,downstream_gene_variant,,ENST00000537345,;ATP1A1,downstream_gene_variant,,ENST00000295598,;ATP1A1,downstream_gene_variant,,ENST00000369496,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369492,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369491,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1,upstream_gene_variant,,ENST00000495965,;ATP1A1,downstream_gene_variant,,ENST00000479960,;	.	115	128	SUCCESS
VPS13D	55187	.	GRCh37	1	12343562	12343562	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	105	1	ENST00000358136.3:c.5403C>T	p.Ser1801=	p.S1801=	ENST00000358136	NM_015378.2	1801	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30588.1	5403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCAGTTA	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	21/70	.	.	.	.	.	.	.	.	.	21/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,synonymous_variant,p.%3D,ENST00000358136,;VPS13D,synonymous_variant,p.%3D,ENST00000011700,;VPS13D,synonymous_variant,p.%3D,ENST00000356315,;	5533	106	65	SUCCESS
RP11-458D21.5	0	.	GRCh37	1	145209427	145209427	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	C	C	G	rs781877684	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	494	63	484	1	ENST00000468030.1:c.-54C>G		p.*18*	ENST00000468030				0	.	.	.	.	.	G	.	nonsense_mediated_decay	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGACCCCCGCG	NONE	byFrequency	.	.	.	.	ENSP00000457682	.	1/23	.	.	.	.	.	.	.	.	rs781877684	1/23	PASS	ENST00000468030	Transcript	.	.	ENSG00000255168	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-458D21.5	Clone_based_vega_gene	E9PLD5_HUMAN	.	UPI0001F78571	SNV	NOTCH2NL,5_prime_UTR_variant,,ENST00000362074,;NOTCH2NL,5_prime_UTR_variant,,ENST00000344859,;RP11-458D21.5,5_prime_UTR_variant,,ENST00000468030,;	283	485	557	SUCCESS
ZNF687	57592	.	GRCh37	1	151261604	151261604	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	74	0	ENST00000324048.5:c.2328G>A	p.Val776=	p.V776=	ENST00000324048		776	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS992.1	2328	MUTECT|MUSE	.	GGTGTGAACTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000319829	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,synonymous_variant,p.%3D,ENST00000324048,;ZNF687,synonymous_variant,p.%3D,ENST00000368879,;ZNF687,synonymous_variant,p.%3D,ENST00000426871,;ZNF687,synonymous_variant,p.%3D,ENST00000336715,;PI4KB,downstream_gene_variant,,ENST00000455060,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368875,;PI4KB,downstream_gene_variant,,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000368874,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000529142,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000368872,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,non_coding_transcript_exon_variant,,ENST00000459919,;ZNF687,intron_variant,,ENST00000449313,;	3298	74	123	SUCCESS
KPRP	448834	.	GRCh37	1	152733724	152733724	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs369510908	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	6	127	1	ENST00000606109.1:c.1660C>G	p.Arg554Gly	p.R554G	ENST00000606109		554	Cgg/Ggg	0	A:0	.	.	.	.	G	R/G	protein_coding	YES	CCDS30862.1	1660	MUTECT|MUSE	.	CAGAGCGGAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	.	A:0.0001	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	rs369510908,COSM1334231	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.019)	.	deleterious_low_confidence(0.04)	0,1	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Arg554Gly,ENST00000368773,;KPRP,missense_variant,p.Arg554Gly,ENST00000606109,;	1718	128	179	SUCCESS
OR10R2	343406	.	GRCh37	1	158450591	158450591	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	52	210	0	ENST00000368152.1:c.924G>C	p.Met308Ile	p.M308I	ENST00000368152	NM_001004472.1	308	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS30898.1	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGGTTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF42,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000357134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368152	Transcript	.	.	ENSG00000198965	14820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.25)	.	O10R2_HUMAN	OR10R2	HGNC	.	.	UPI000004CA1C	SNV	OR10R2,missense_variant,p.Met308Ile,ENST00000368152,;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	924	210	278	SUCCESS
OR6P1	128366	.	GRCh37	1	158532908	158532908	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs114056876	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	55	121	0	ENST00000334632.1:c.487A>T	p.Ile163Phe	p.I163F	ENST00000334632	NM_001160325.1	163	Att/Ttt	0	C:0.0549	C:0.0582	.	C:0.0029	.	A	I/F	protein_coding	YES	CCDS53391.1	487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATAAAAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	C:0	C:0.0003	ENSP00000334721	C:0	1/1	.	.	.	.	.	.	.	.	rs114056876	1/1	PASS	ENST00000334632	Transcript	.	C:0.0158	ENSG00000186440	15036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	C:0	deleterious(0.01)	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,missense_variant,p.Ile163Phe,ENST00000334632,;	487	121	199	SUCCESS
SPTA1	6708	.	GRCh37	1	158622440	158622440	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	92	0	ENST00000368147.4:c.3192C>T	p.Tyr1064=	p.Y1064=	ENST00000368147	NM_003126.2	1064	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS41423.1	3192	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGTATCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	23/52	.	.	.	.	.	.	.	.	.	23/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,synonymous_variant,p.%3D,ENST00000368147,;	3373	92	89	SUCCESS
ZBTB17	7709	.	GRCh37	1	16271291	16271291	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	67	0	ENST00000375743.4:c.971A>C	p.His324Pro	p.H324P	ENST00000375743	NM_003443.2	324	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS165.1	971	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTGCCGC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF165,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	.	.	ENSP00000364895	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000375743	Transcript	.	.	ENSG00000116809	12936	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ZBT17_HUMAN	ZBTB17	HGNC	.	.	UPI000013C9D2	SNV	ZBTB17,missense_variant,p.His324Pro,ENST00000375743,;ZBTB17,missense_variant,p.His261Pro,ENST00000448462,;ZBTB17,missense_variant,p.His324Pro,ENST00000375733,;ZBTB17,missense_variant,p.His242Pro,ENST00000537142,;SPEN,downstream_gene_variant,,ENST00000375759,;ZBTB17,upstream_gene_variant,,ENST00000444358,;ZBTB17,upstream_gene_variant,,ENST00000440560,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000492834,;ZBTB17,upstream_gene_variant,,ENST00000462525,;ZBTB17,upstream_gene_variant,,ENST00000474511,;ZBTB17,upstream_gene_variant,,ENST00000488008,;ZBTB17,upstream_gene_variant,,ENST00000472658,;ZBTB17,upstream_gene_variant,,ENST00000471805,;ZBTB17,downstream_gene_variant,,ENST00000479282,;ZBTB17,downstream_gene_variant,,ENST00000464719,;ZBTB17,downstream_gene_variant,,ENST00000490899,;ZBTB17,upstream_gene_variant,,ENST00000487785,;ZBTB17,downstream_gene_variant,,ENST00000494020,;	1204	67	47	SUCCESS
PAPPA2	60676	.	GRCh37	1	176525331	176525331	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	14	0	ENST00000367662.3:c.-128T>C		p.*43*	ENST00000367662	NM_020318.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41438.1	.	MUTECT|MUSE	.	TTTGGTCTGTG	NONE	.	.	.	.	.	ENSP00000356634	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,5_prime_UTR_variant,,ENST00000367661,;PAPPA2,5_prime_UTR_variant,,ENST00000367662,;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	1037	14	16	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17934342	17934342	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753361301	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	57	176	0	ENST00000361221.3:c.479C>A	p.Ala160Asp	p.A160D	ENST00000361221	NM_018125.3	160	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS182.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCCCTC	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16	.	.	ENSP00000355060	.	7/29	.	.	.	.	.	.	.	.	rs753361301	7/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	deleterious(0.03)	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,missense_variant,p.Ala160Asp,ENST00000375415,;ARHGEF10L,missense_variant,p.Ala160Asp,ENST00000361221,;ARHGEF10L,missense_variant,p.Ala160Asp,ENST00000434513,;ARHGEF10L,missense_variant,p.Ala160Asp,ENST00000452522,;ARHGEF10L,5_prime_UTR_variant,,ENST00000375420,;ARHGEF10L,downstream_gene_variant,,ENST00000482892,;	638	177	142	SUCCESS
PPFIA4	8497	.	GRCh37	1	203028385	203028385	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	660	19	524	0	ENST00000447715.2:c.2421G>A	p.Arg807=	p.R807=	ENST00000447715		807	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS44296.1	969	MUTECT|MUSE	.	GACCGGCGGCT	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5	.	.	ENSP00000272198	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000272198	Transcript	.	.	ENSG00000143847	9248	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPA4_HUMAN	PPFIA4	HGNC	.	.	UPI00001C0CC6	SNV	PPFIA4,synonymous_variant,p.%3D,ENST00000295706,;PPFIA4,synonymous_variant,p.%3D,ENST00000272198,;PPFIA4,synonymous_variant,p.%3D,ENST00000599966,;PPFIA4,synonymous_variant,p.%3D,ENST00000414050,;PPFIA4,synonymous_variant,p.%3D,ENST00000367240,;PPFIA4,synonymous_variant,p.%3D,ENST00000600426,;PPFIA4,synonymous_variant,p.%3D,ENST00000447715,;PPFIA4,downstream_gene_variant,,ENST00000599514,;PPFIA4,downstream_gene_variant,,ENST00000600447,;PPFIA4,upstream_gene_variant,,ENST00000486360,;PPFIA4,upstream_gene_variant,,ENST00000594656,;	1562	524	680	SUCCESS
CD55	1604	.	GRCh37	1	207498067	207498067	+	synonymous_variant	Silent	SNP	A	A	G	rs1395525529	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	100	108	0	ENST00000367064.3:c.450A>G	p.Lys150=	p.K150=	ENST00000367064	NM_000574.3	150	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS44307.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAATGGTC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF319,PROSITE_profiles:PS50923	.	.	ENSP00000316333	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314754	Transcript	.	.	ENSG00000196352	2665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAF_HUMAN	CD55	HGNC	Q76N74_HUMAN	.	UPI000002EA80	SNV	CD55,missense_variant,p.Met122Val,ENST00000367067,;CD55,synonymous_variant,p.%3D,ENST00000343420,;CD55,synonymous_variant,p.%3D,ENST00000367064,;CD55,synonymous_variant,p.%3D,ENST00000367062,;CD55,synonymous_variant,p.%3D,ENST00000314754,;CD55,synonymous_variant,p.%3D,ENST00000367065,;CD55,synonymous_variant,p.%3D,ENST00000367063,;CD55,synonymous_variant,p.%3D,ENST00000391920,;CD55,intron_variant,,ENST00000391921,;CD55,non_coding_transcript_exon_variant,,ENST00000465534,;CD55,synonymous_variant,p.%3D,ENST00000482390,;CD55,non_coding_transcript_exon_variant,,ENST00000488171,;CD55,non_coding_transcript_exon_variant,,ENST00000476590,;	515	108	166	SUCCESS
PLXNA2	5362	.	GRCh37	1	208202219	208202219	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	93	0	ENST00000367033.3:c.5394G>T	p.Leu1798=	p.L1798=	ENST00000367033	NM_025179.3	1798	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31013.1	5394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGCAGCTT	NONE	.	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000356000	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,synonymous_variant,p.%3D,ENST00000367033,;PLXNA2,non_coding_transcript_exon_variant,,ENST00000483048,;PLXNA2,downstream_gene_variant,,ENST00000480053,;	6152	93	120	SUCCESS
FAM71A	149647	.	GRCh37	1	212798986	212798986	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	16	51	0	ENST00000294829.3:c.767A>G	p.Asn256Ser	p.N256S	ENST00000294829	NM_153606.3	256	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS1507.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAATGCAT	NONE	.	.	hmmpanther:PTHR22574:SF9,hmmpanther:PTHR22574	.	.	ENSP00000294829	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000294829	Transcript	.	.	ENSG00000162771	26541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	FA71A_HUMAN	FAM71A	HGNC	.	.	UPI000013E1C2	SNV	FAM71A,missense_variant,p.Asn256Ser,ENST00000294829,;ATF3,downstream_gene_variant,,ENST00000341491,;ATF3,downstream_gene_variant,,ENST00000366987,;RP11-338C15.5,non_coding_transcript_exon_variant,,ENST00000427949,;ATF3,downstream_gene_variant,,ENST00000492118,;	1198	51	83	SUCCESS
USH2A	7399	.	GRCh37	1	216420462	216420462	+	synonymous_variant	Silent	SNP	G	G	A	rs61747101	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	11	123	0	ENST00000307340.3:c.2274C>T	p.Phe758=	p.F758=	ENST00000307340	NM_206933.2	758	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS31025.1	2274	MUTECT|MUSE	.	TTGCAGAATTT	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	13/72	.	.	.	.	.	.	.	.	rs61747101	13/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366942,;USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	2661	123	135	SUCCESS
EPRS	0	.	GRCh37	1	220160734	220160734	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	64	0	ENST00000366923.3:c.2788A>G	p.Ile930Val	p.I930V	ENST00000366923	NM_004446.2	930	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31027.1	2788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTATATCTA	NONE	.	.	Superfamily_domains:SSF47060,SMART_domains:SM00991,Gene3D:1.10.287.10,Pfam_domain:PF00458,PROSITE_patterns:PS00762,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119,PROSITE_profiles:PS51185	.	.	ENSP00000355890	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.2)	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,missense_variant,p.Ile930Val,ENST00000366923,;EPRS,missense_variant,p.Ile937Val,ENST00000609181,;snoU13,downstream_gene_variant,,ENST00000459217,;EPRS,upstream_gene_variant,,ENST00000485821,;	3058	64	73	SUCCESS
DNAH14	127602	.	GRCh37	1	225446851	225446851	+	intron_variant	Intron	SNP	C	C	T	rs551468235	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	517	13	393	1	ENST00000445597.2:c.5585-6033C>T		p.*1862*	ENST00000445597		112		0	.	T:0.0008	.	T:0	.	T	A	protein_coding	.	.	7035	MUTECT|MUSE	.	GCTGCCATTAA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	T:0.002	.	ENSP00000414402	T:0	46/84	.	.	.	.	.	.	.	.	rs551468235	46/84	PASS	ENST00000430092	Transcript	.	T:0.0006	ENSG00000185842	2945	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI000192C36D	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000450490,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,synonymous_variant,p.%3D,ENST00000327794,;	7250	394	530	SUCCESS
KIF26B	55083	.	GRCh37	1	245809448	245809448	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	67	0	ENST00000407071.2:c.2124T>A	p.His708Gln	p.H708Q	ENST00000407071	NM_018012.3	708	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS44342.1	2124	MUTECT|MUSE	.	CTGCATCTCAT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000385545	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.His708Gln,ENST00000407071,;KIF26B,missense_variant,p.His327Gln,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	2564	67	81	SUCCESS
OR2T33	391195	.	GRCh37	1	248436541	248436541	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	56	175	1	ENST00000318021.2:c.576C>A	p.Val192=	p.V192=	ENST00000318021	NM_001004695.1	192	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31109.1	576	RADIA|SOMATICSNIPER|VARSCANS	.	TCGAAGACTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF83,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000324687	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318021	Transcript	.	.	ENSG00000177212	31255	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O2T33_HUMAN	OR2T33	HGNC	.	.	UPI000004B237	SNV	OR2T33,synonymous_variant,p.%3D,ENST00000318021,;	598	176	226	SUCCESS
OR2T3	343173	.	GRCh37	1	248636988	248636988	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757276541	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	374	84	331	0	ENST00000359594.2:c.337G>A	p.Ala113Thr	p.A113T	ENST00000359594	NM_001005495.1	113	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31117.1	337	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGCTGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000352604	.	1/1	.	.	.	.	.	.	.	.	rs757276541,COSM4030768	1/1	PASS	ENST00000359594	Transcript	.	.	ENSG00000196539	14727	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.03)	.	tolerated(0.38)	0,1	OR2T3_HUMAN	OR2T3	HGNC	.	.	UPI00001D7CA5	SNV	OR2T3,missense_variant,p.Ala113Thr,ENST00000359594,;	362	331	458	SUCCESS
SEPN1	0	.	GRCh37	1	26136219	26136219	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs756982183	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	43	0	ENST00000361547.2:c.918T>G	p.Phe306Leu	p.F306L	ENST00000361547	NM_020451.2	306	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS41282.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTTTGGTT	NONE	.	.	hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF39	.	.	ENSP00000355141	.	7/13	.	.	.	.	.	.	.	.	rs756982183	7/13	PASS	ENST00000361547	Transcript	.	.	ENSG00000162430	15999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	tolerated(0.05)	.	SELN_HUMAN	SEPN1	HGNC	D3DPJ3_HUMAN	.	UPI00003761B2	SNV	SEPN1,missense_variant,p.Phe306Leu,ENST00000361547,;SEPN1,missense_variant,p.Phe272Leu,ENST00000354177,;SEPN1,missense_variant,p.Phe272Leu,ENST00000374315,;SEPN1,upstream_gene_variant,,ENST00000494537,;RP1-317E23.6,upstream_gene_variant,,ENST00000527604,;RP1-317E23.6,upstream_gene_variant,,ENST00000559265,;	973	43	37	SUCCESS
PIGV	55650	.	GRCh37	1	27124181	27124200	+	frameshift_variant	Frame_Shift_Del	DEL	CCCCACCAGGACAAAAGGTC	CCCCACCAGGACAAAAGGTC	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	CCCCACCAGGACAAAAGGTC	CCCCACCAGGACAAAAGGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	117	0	ENST00000078527.4:c.1331_1350del	p.Pro444GlnfsTer61	p.P444Qfs*61	ENST00000078527	NM_017837.3	443	tCCCCACCAGGACAAAAGGTC/t	0	.	.	.	.	.	-	SPPGQKV/X	protein_coding	YES	CCDS287.1	1328-1347	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGACTCCCCACCAGGACAAAAGGTCCCCAG	NONE	.	.	Pfam_domain:PF04188,hmmpanther:PTHR12468:SF2,hmmpanther:PTHR12468	.	.	ENSP00000363260	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374145	Transcript	.	.	ENSG00000060642	26031	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIGV_HUMAN	PIGV	HGNC	.	.	UPI000004A060	deletion	PIGV,frameshift_variant,p.Pro216GlnfsTer61,ENST00000449950,;PIGV,frameshift_variant,p.Pro444GlnfsTer61,ENST00000374145,;PIGV,frameshift_variant,p.Pro444GlnfsTer61,ENST00000078527,;PIGV,downstream_gene_variant,,ENST00000430292,;PIGV,downstream_gene_variant,,ENST00000455364,;PIGV,downstream_gene_variant,,ENST00000431541,;PIGV,3_prime_UTR_variant,,ENST00000472757,;	2010-2029	117	83	SUCCESS
CSMD2	114784	.	GRCh37	1	34123626	34123626	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs772072035	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	105	0	ENST00000241312.4:c.4247C>T	p.Ala1416Val	p.A1416V	ENST00000241312		1416	gCg/gTg	0	.	.	.	.	.	A	A/V	nonsense_mediated_decay	YES	CCDS380.1	4247	MUTECT|MUSE	.	GCAGCGCGTAG	NONE	byFrequency	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	27/70	.	.	.	.	.	.	.	.	rs772072035,COSM1738378,COSM1738379	27/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.003)	.	tolerated(0.21)	0,1,1	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Ala1456Val,ENST00000373381,;CSMD2,missense_variant,p.Ala329Val,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,missense_variant,p.Ala1416Val,ENST00000241312,;	4276	105	88	SUCCESS
ZMYM6NB	0	.	GRCh37	1	35447692	35447692	+	synonymous_variant	Silent	SNP	T	T	C	rs1311806992	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	83	0	ENST00000373337.3:c.318A>G	p.Lys106=	p.K106=	ENST00000373337	NM_001195156.1	106	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS53296.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTTTCAG	NONE	.	.	hmmpanther:PTHR13163:SF1,hmmpanther:PTHR13163,Pfam_domain:PF13564	.	.	ENSP00000362435	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373337	Transcript	.	.	ENSG00000243749	40021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYNB_HUMAN	ZMYM6NB	HGNC	.	.	UPI000006ED8A	SNV	ZMYM6NB,synonymous_variant,p.%3D,ENST00000373337,;ZMYM6,downstream_gene_variant,,ENST00000357182,;ZMYM6,downstream_gene_variant,,ENST00000373340,;RP11-244H3.1,upstream_gene_variant,,ENST00000311990,;RP11-244H3.1,intron_variant,,ENST00000417456,;ZMYM6,downstream_gene_variant,,ENST00000493328,;RP11-244H3.4,3_prime_UTR_variant,,ENST00000487874,;	366	83	63	SUCCESS
AGO3	192669	.	GRCh37	1	36479616	36479616	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	125	368	0	ENST00000373191.4:c.1373C>A	p.Ala458Asp	p.A458D	ENST00000373191	NM_024852.3	458	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS399.1	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCCACAC	NONE	.	.	HAMAP:MF_03032,hmmpanther:PTHR22891:SF3,hmmpanther:PTHR22891,Gene3D:3.40.50.2300	.	.	ENSP00000362287	.	11/19	.	.	.	.	.	.	.	.	COSM3488998	11/19	PASS	ENST00000373191	Transcript	.	.	ENSG00000126070	18421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.641)	.	tolerated(0.1)	1	AGO3_HUMAN	AGO3	HGNC	B4DY67_HUMAN	.	UPI0000141361	SNV	AGO3,missense_variant,p.Ala224Asp,ENST00000246314,;AGO3,missense_variant,p.Ala458Asp,ENST00000373191,;RP4-665N4.8,upstream_gene_variant,,ENST00000479395,;RP4-665N4.8,upstream_gene_variant,,ENST00000466576,;	1722	368	296	SUCCESS
DHCR24	1718	.	GRCh37	1	55331043	55331043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	83	0	ENST00000371269.3:c.953G>A	p.Gly318Asp	p.G318D	ENST00000371269	NM_014762.3	318	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS600.1	953	MUTECT|MUSE	.	CCAGGCCCTCT	NONE	.	.	hmmpanther:PTHR10801:SF0,hmmpanther:PTHR10801	.	.	ENSP00000360316	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000371269	Transcript	.	.	ENSG00000116133	2859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.288)	.	tolerated(0.07)	.	DHC24_HUMAN	DHCR24	HGNC	Q3LIE7_HUMAN,B7Z546_HUMAN	.	UPI00000335D4	SNV	DHCR24,missense_variant,p.Gly277Asp,ENST00000535035,;DHCR24,missense_variant,p.Gly318Asp,ENST00000371269,;DHCR24,intron_variant,,ENST00000537443,;	1052	83	72	SUCCESS
PCSK9	255738	.	GRCh37	1	55527163	55527163	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	104	360	0	ENST00000302118.5:c.1797C>G	p.Ser599=	p.S599=	ENST00000302118	NM_174936.3	599	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS603.1	1797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTGCTG	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333	.	.	ENSP00000303208	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000302118	Transcript	.	.	ENSG00000169174	20001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCSK9_HUMAN	PCSK9	HGNC	.	.	UPI00001615E1	SNV	PCSK9,synonymous_variant,p.%3D,ENST00000302118,;PCSK9,3_prime_UTR_variant,,ENST00000543384,;USP24,downstream_gene_variant,,ENST00000407756,;USP24,downstream_gene_variant,,ENST00000294383,;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;	2087	360	283	SUCCESS
TTLL7	79739	.	GRCh37	1	84356067	84356067	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373309024	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	56	196	1	ENST00000260505.8:c.2306G>T	p.Arg769Leu	p.R769L	ENST00000260505	NM_024686.4	769	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS690.2	2306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCGGTTG	NONE	byCluster	.	.	.	T:0.0001	ENSP00000260505	.	19/21	.	.	.	.	.	.	.	.	rs373309024	19/21	PASS	ENST00000260505	Transcript	.	.	ENSG00000137941	26242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	TTLL7_HUMAN	TTLL7	HGNC	.	.	UPI000020391D	SNV	TTLL7,missense_variant,p.Arg769Leu,ENST00000260505,;TTLL7,non_coding_transcript_exon_variant,,ENST00000477524,;TTLL7,non_coding_transcript_exon_variant,,ENST00000472688,;TTLL7,non_coding_transcript_exon_variant,,ENST00000488014,;TTLL7,upstream_gene_variant,,ENST00000472937,;TTLL7,missense_variant,p.Arg454Leu,ENST00000474957,;TTLL7,3_prime_UTR_variant,,ENST00000480174,;TTLL7,3_prime_UTR_variant,,ENST00000485638,;	2684	197	122	SUCCESS
HFM1	164045	.	GRCh37	1	91781372	91781372	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs754765102	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	45	146	0	ENST00000370425.3:c.3140C>T	p.Thr1047Met	p.T1047M	ENST00000370425	NM_001017975.3	1047	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS30769.2	3140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACGTAATC	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Pfam_domain:PF02889,SMART_domains:SM00973	.	.	ENSP00000359454	.	28/39	.	.	.	.	.	.	.	.	rs754765102,COSM287412	28/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(1)	0,1	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,missense_variant,p.Thr726Met,ENST00000370424,;HFM1,missense_variant,p.Thr259Met,ENST00000430465,;HFM1,missense_variant,p.Thr1047Met,ENST00000370425,;HFM1,missense_variant,p.Thr279Met,ENST00000294696,;HFM1,splice_region_variant,,ENST00000462405,;HFM1,downstream_gene_variant,,ENST00000497520,;	3239	146	107	SUCCESS
SLC44A3	126969	.	GRCh37	1	95310943	95310943	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	46	0	ENST00000271227.6:c.995A>T	p.Gln332Leu	p.Q332L	ENST00000271227	NM_001258340.1	332	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS44176.1	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCAGCCAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13,Pfam_domain:PF04515	.	.	ENSP00000271227	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000271227	Transcript	.	.	ENSG00000143036	28689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CTL3_HUMAN	SLC44A3	HGNC	F8W7F3_HUMAN	.	UPI0000206066	SNV	SLC44A3,missense_variant,p.Gln296Leu,ENST00000446120,;SLC44A3,missense_variant,p.Gln332Leu,ENST00000271227,;SLC44A3,missense_variant,p.Gln300Leu,ENST00000529450,;SLC44A3,missense_variant,p.Gln284Leu,ENST00000467909,;SLC44A3,missense_variant,p.Gln252Leu,ENST00000532427,;SLC44A3,missense_variant,p.Gln264Leu,ENST00000527077,;RP11-465K1.2,intron_variant,,ENST00000422162,;SLC44A3,non_coding_transcript_exon_variant,,ENST00000530397,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;RP11-465K1.2,intron_variant,,ENST00000532087,;	1097	46	43	SUCCESS
HELZ2	85441	.	GRCh37	20	62196516	62196516	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1167149128	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	9	121	0	ENST00000467148.1:c.3659A>G	p.Asn1220Ser	p.N1220S	ENST00000467148	NM_001037335.2	1220	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS33508.1	3659	MUTECT|MUSE	.	AGCCATTGATG	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Superfamily_domains:SSF50249	.	.	ENSP00000417401	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.214)	.	deleterious(0.02)	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,missense_variant,p.Asn1220Ser,ENST00000467148,;HELZ2,missense_variant,p.Asn651Ser,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,upstream_gene_variant,,ENST00000478861,;HELZ2,downstream_gene_variant,,ENST00000370082,;	3729	121	165	SUCCESS
PLCB1	23236	.	GRCh37	20	8705358	8705358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	73	0	ENST00000338037.6:c.1637A>G	p.Tyr546Cys	p.Y546C	ENST00000338037	NM_015192.3	546	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13102.1	1637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTATATTC	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00387,Gene3D:3.20.20.190,PIRSF_domain:PIRSF000956,SMART_domains:SM00149,Superfamily_domains:SSF51695	.	.	ENSP00000338185	.	16/32	.	.	.	.	.	.	.	.	.	16/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Tyr546Cys,ENST00000378641,;PLCB1,missense_variant,p.Tyr546Cys,ENST00000338037,;PLCB1,missense_variant,p.Tyr546Cys,ENST00000378637,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Tyr287Cys,ENST00000487210,;	1664	73	108	SUCCESS
ADAMTS1	9510	.	GRCh37	21	28210396	28210396	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs368620028	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	76	0	ENST00000284984.3:c.2406C>G	p.Ser802Arg	p.S802R	ENST00000284984	NM_006988.3	802	agC/agG	0	A:0	.	.	.	.	C	S/R	protein_coding	YES	CCDS33524.1	2406	MUTECT|MUSE	.	GAGCCGCTGTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986	.	A:0.0001	ENSP00000284984	.	9/9	.	.	.	.	.	.	.	.	rs368620028	9/9	PASS	ENST00000284984	Transcript	.	.	ENSG00000154734	217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS1_HUMAN	ADAMTS1	HGNC	E5RI60_HUMAN	.	UPI000013DDC6	SNV	ADAMTS1,missense_variant,p.Ser802Arg,ENST00000284984,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;ADAMTS1,downstream_gene_variant,,ENST00000492656,;	2861	76	57	SUCCESS
CLTCL1	8218	.	GRCh37	22	19213778	19213778	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	36	133	0	ENST00000427926.1:c.1911G>C	p.Lys637Asn	p.K637N	ENST00000427926		637	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS46662.1	1911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCTTGAT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF00637,SMART_domains:SM00299,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371	.	.	ENSP00000445677	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000263200	Transcript	.	.	ENSG00000070371	2093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,missense_variant,p.Lys637Asn,ENST00000427926,;CLTCL1,missense_variant,p.Lys637Asn,ENST00000263200,;CLTCL1,missense_variant,p.Lys637Asn,ENST00000353891,;CLTCL1,missense_variant,p.Lys637Asn,ENST00000505027,;CLTCL1,missense_variant,p.Lys22Asn,ENST00000458188,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,downstream_gene_variant,,ENST00000540896,;	1984	134	132	SUCCESS
PATZ1	23598	.	GRCh37	22	31740949	31740949	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	69	122	1	ENST00000266269.5:c.640C>G	p.Arg214Gly	p.R214G	ENST00000266269	NM_014323.2	214	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS13894.1	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF320	.	.	ENSP00000266269	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000266269	Transcript	.	.	ENSG00000100105	13071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.47)	.	PATZ1_HUMAN	PATZ1	HGNC	Q9HD72_HUMAN	.	UPI000006D7C4	SNV	PATZ1,missense_variant,p.Arg214Gly,ENST00000351933,;PATZ1,missense_variant,p.Arg214Gly,ENST00000215919,;PATZ1,missense_variant,p.Arg214Gly,ENST00000266269,;PATZ1,missense_variant,p.Arg214Gly,ENST00000405309,;AC005003.1,upstream_gene_variant,,ENST00000504184,;PATZ1,upstream_gene_variant,,ENST00000465287,;PATZ1,upstream_gene_variant,,ENST00000494109,;	1270	123	122	SUCCESS
TMPRSS6	164656	.	GRCh37	22	37485802	37485802	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778842762	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	65	206	0	ENST00000346753.3:c.679G>A	p.Val227Met	p.V227M	ENST00000346753	NM_153609.2	227	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS13941.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACGTAGC	NONE	.	.	PIRSF_domain:PIRSF037135,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96	.	.	ENSP00000334962	.	7/18	.	.	.	.	.	.	.	.	rs778842762	7/18	PASS	ENST00000346753	Transcript	.	.	ENSG00000187045	16517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.01)	.	TMPS6_HUMAN	TMPRSS6	HGNC	B0QYB6_HUMAN	.	UPI00000747C8	SNV	TMPRSS6,missense_variant,p.Val218Met,ENST00000406725,;TMPRSS6,missense_variant,p.Val218Met,ENST00000406856,;TMPRSS6,missense_variant,p.Val227Met,ENST00000346753,;TMPRSS6,missense_variant,p.Val218Met,ENST00000381792,;TMPRSS6,missense_variant,p.Val227Met,ENST00000442782,;TMPRSS6,upstream_gene_variant,,ENST00000429068,;	796	206	240	SUCCESS
CACNA1I	8911	.	GRCh37	22	40058338	40058338	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	61	0	ENST00000402142.3:c.3270G>A	p.Gly1090=	p.G1090=	ENST00000402142	NM_021096.3	1090	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46710.1	3270	MUTECT|MUSE|VARSCANS	.	CCCGGGCATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037	.	.	ENSP00000385019	.	17/37	.	.	.	.	.	.	.	.	.	17/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,synonymous_variant,p.%3D,ENST00000401624,;CACNA1I,synonymous_variant,p.%3D,ENST00000407673,;CACNA1I,synonymous_variant,p.%3D,ENST00000402142,;CACNA1I,synonymous_variant,p.%3D,ENST00000400164,;CACNA1I,synonymous_variant,p.%3D,ENST00000336649,;CACNA1I,synonymous_variant,p.%3D,ENST00000404898,;	3270	61	57	SUCCESS
C22orf46	79640	.	GRCh37	22	42086736	42086736	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	75	0	ENST00000402966.1:c.105C>T	p.Asp35=	p.D35=	ENST00000402966	NM_001142964.1	35	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS46717.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACCCTCA	NONE	.	.	hmmpanther:PTHR22379,hmmpanther:PTHR22379:SF0	.	.	ENSP00000385467	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000402966	Transcript	.	.	ENSG00000184208	26294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV046_HUMAN	C22orf46	HGNC	.	.	UPI00018962D9	SNV	C22orf46,synonymous_variant,p.%3D,ENST00000402966,;NHP2L1,upstream_gene_variant,,ENST00000402458,;NHP2L1,upstream_gene_variant,,ENST00000401959,;NHP2L1,upstream_gene_variant,,ENST00000355257,;C22orf46,intron_variant,,ENST00000472110,;NHP2L1,upstream_gene_variant,,ENST00000469028,;NHP2L1,upstream_gene_variant,,ENST00000463675,;NHP2L1,upstream_gene_variant,,ENST00000469522,;Z83840.1,upstream_gene_variant,,ENST00000539984,;	190	76	71	SUCCESS
C22orf46	79640	.	GRCh37	22	42086737	42086737	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1276170277	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	78	0	ENST00000402966.1:c.106C>T	p.Pro36Ser	p.P36S	ENST00000402966	NM_001142964.1	36	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46717.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCCTCAG	NONE	.	.	hmmpanther:PTHR22379,hmmpanther:PTHR22379:SF0	.	.	ENSP00000385467	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000402966	Transcript	.	.	ENSG00000184208	26294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.01)	.	CV046_HUMAN	C22orf46	HGNC	.	.	UPI00018962D9	SNV	C22orf46,missense_variant,p.Pro36Ser,ENST00000402966,;NHP2L1,upstream_gene_variant,,ENST00000402458,;NHP2L1,upstream_gene_variant,,ENST00000401959,;NHP2L1,upstream_gene_variant,,ENST00000355257,;C22orf46,intron_variant,,ENST00000472110,;NHP2L1,upstream_gene_variant,,ENST00000469028,;NHP2L1,upstream_gene_variant,,ENST00000463675,;NHP2L1,upstream_gene_variant,,ENST00000469522,;Z83840.1,upstream_gene_variant,,ENST00000539984,;	191	78	72	SUCCESS
GREB1	9687	.	GRCh37	2	11750992	11750992	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	9	192	0	ENST00000234142.5:c.2845A>T	p.Met949Leu	p.M949L	ENST00000234142		949	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS42655.1	2845	MUTECT|MUSE	.	GGCTCATGGTC	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.755)	.	deleterious(0.02)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Met949Leu,ENST00000234142,;GREB1,missense_variant,p.Met949Leu,ENST00000381486,;GREB1,upstream_gene_variant,,ENST00000396123,;GREB1,downstream_gene_variant,,ENST00000432985,;AC011994.1,downstream_gene_variant,,ENST00000581704,;GREB1,upstream_gene_variant,,ENST00000472040,;	3145	192	217	SUCCESS
LPIN1	23175	.	GRCh37	2	11911614	11911614	+	synonymous_variant	Silent	SNP	G	G	A	rs1373294657	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	38	134	0	ENST00000256720.2:c.405G>A	p.Thr135=	p.T135=	ENST00000256720	NM_145693.2	135	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS58699.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGCCAGC	NONE	.	.	hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181	.	.	ENSP00000397908	.	5/22	.	.	.	.	.	.	.	.	COSM1005876,COSM3797880	5/22	PASS	ENST00000449576	Transcript	.	.	ENSG00000134324	13345	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	LPIN1	HGNC	F5GY24_HUMAN,C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN	.	UPI0002064F62	SNV	LPIN1,synonymous_variant,p.%3D,ENST00000396099,;LPIN1,synonymous_variant,p.%3D,ENST00000449576,;LPIN1,synonymous_variant,p.%3D,ENST00000256720,;LPIN1,synonymous_variant,p.%3D,ENST00000425416,;LPIN1,synonymous_variant,p.%3D,ENST00000396098,;LPIN1,downstream_gene_variant,,ENST00000441684,;MIR548S,downstream_gene_variant,,ENST00000581352,;	605	134	155	SUCCESS
TPO	7173	.	GRCh37	2	1480955	1480955	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	552	115	664	0	ENST00000329066.4:c.917G>C	p.Gly306Ala	p.G306A	ENST00000329066	NM_001206744.1	306	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS1643.1	917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGGAACC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.09)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Gly306Ala,ENST00000329066,;TPO,missense_variant,p.Gly306Ala,ENST00000337415,;TPO,missense_variant,p.Gly306Ala,ENST00000382201,;TPO,missense_variant,p.Gly306Ala,ENST00000346956,;TPO,missense_variant,p.Gly235Ala,ENST00000422464,;TPO,missense_variant,p.Gly306Ala,ENST00000345913,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000497517,;	1008	664	667	SUCCESS
TPO	7173	.	GRCh37	2	1481307	1481307	+	synonymous_variant	Silent	SNP	C	C	T	rs759953470	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	650	211	833	2	ENST00000329066.4:c.1269C>T	p.Ala423=	p.A423=	ENST00000329066	NM_001206744.1	423	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1643.1	1269	RADIA|SOMATICSNIPER|VARSCANS	.	AAGGCCCTCAA	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000318820	.	8/17	.	.	.	.	.	.	.	.	rs759953470	8/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,synonymous_variant,p.%3D,ENST00000329066,;TPO,synonymous_variant,p.%3D,ENST00000337415,;TPO,synonymous_variant,p.%3D,ENST00000382201,;TPO,synonymous_variant,p.%3D,ENST00000346956,;TPO,synonymous_variant,p.%3D,ENST00000422464,;TPO,synonymous_variant,p.%3D,ENST00000345913,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000497517,;	1360	835	861	SUCCESS
NBAS	51594	.	GRCh37	2	15307154	15307172	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	CAGGGCCACAGGTGGCCCT	CAGGGCCACAGGTGGCCCT	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	CAGGGCCACAGGTGGCCCT	CAGGGCCACAGGTGGCCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	101	0	ENST00000281513.5:c.7116_*18del		p.*2372*	ENST00000281513	NM_015909.3	2372		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1685.1	7116-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGAGCAGGGCCACAGGTGGCCCTCACAC	NONE	.	.	.	.	.	ENSP00000281513	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	deletion	NBAS,coding_sequence_variant,,ENST00000433283,;NBAS,coding_sequence_variant,,ENST00000441750,;NBAS,coding_sequence_variant,,ENST00000281513,;NBAS,coding_sequence_variant,,ENST00000442506,;NBAS,3_prime_UTR_variant,,ENST00000417461,;NBAS,non_coding_transcript_exon_variant,,ENST00000485694,;	7142-7160	101	81	SUCCESS
SP3	6670	.	GRCh37	2	174828661	174828661	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	64	0	ENST00000310015.6:c.157-50C>T		p.*53*	ENST00000310015	NM_001172712.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGGTTAG	NONE	.	.	.	.	.	ENSP00000310301	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310015	Transcript	.	.	ENSG00000172845	11208	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP3_HUMAN	SP3	HGNC	Q68DP2_HUMAN,H0Y6K5_HUMAN	.	UPI000019B3E0	SNV	SP3,5_prime_UTR_variant,,ENST00000418194,;SP3,intron_variant,,ENST00000416195,;SP3,intron_variant,,ENST00000455789,;SP3,intron_variant,,ENST00000310015,;RP11-394I13.2,upstream_gene_variant,,ENST00000605739,;SP3,intron_variant,,ENST00000462904,;SP3,intron_variant,,ENST00000490182,;SP3,upstream_gene_variant,,ENST00000483084,;	.	64	48	SUCCESS
TTN	7273	.	GRCh37	2	179637884	179637884	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs775528928	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	111	169	0	ENST00000591111.1:c.7807A>C	p.Thr2603Pro	p.T2603P	ENST00000591111		2603	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS59435.1	7807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTGTATT	BUFFER|p.A2606V|c.7817C>T|3,BUFFER|p.A2560V|c.7679C>T|3,BUFFER|p.A2560V|c.7679C>T|3,BUFFER|p.A2560V|c.7679C>T|3,BUFFER|p.A2606V|c.7817C>T|3,BUFFER|p.A2606V|c.7817C>T|3	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	33/363	.	.	.	.	.	.	.	.	rs775528928	33/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Thr2603Pro,ENST00000360870,;TTN,missense_variant,p.Thr2557Pro,ENST00000359218,;TTN,missense_variant,p.Thr2603Pro,ENST00000342992,;TTN,missense_variant,p.Thr2557Pro,ENST00000342175,;TTN,missense_variant,p.Thr2603Pro,ENST00000589042,;TTN,missense_variant,p.Thr2603Pro,ENST00000591111,;TTN,missense_variant,p.Thr2557Pro,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000584485,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;	8032	169	167	SUCCESS
SPATS2L	26010	.	GRCh37	2	201305388	201305388	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs748769319	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	21	93	0	ENST00000358677.5:c.669A>T	p.Lys223Asn	p.K223N	ENST00000358677	NM_015535.2	223	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS46483.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAATCAGT	NONE	.	.	hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623,Pfam_domain:PF07139	.	.	ENSP00000351503	.	8/13	.	.	.	.	.	.	.	.	rs748769319	8/13	PASS	ENST00000358677	Transcript	.	.	ENSG00000196141	24574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SPS2L_HUMAN	SPATS2L	HGNC	F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN	.	UPI0000D48A8E	SNV	SPATS2L,missense_variant,p.Lys223Asn,ENST00000358677,;SPATS2L,missense_variant,p.Lys223Asn,ENST00000409988,;SPATS2L,missense_variant,p.Lys223Asn,ENST00000409140,;SPATS2L,missense_variant,p.Lys231Asn,ENST00000409151,;SPATS2L,missense_variant,p.Lys253Asn,ENST00000409755,;SPATS2L,missense_variant,p.Lys223Asn,ENST00000451764,;SPATS2L,missense_variant,p.Lys154Asn,ENST00000360760,;SPATS2L,missense_variant,p.Lys6Asn,ENST00000366118,;SPATS2L,missense_variant,p.Lys223Asn,ENST00000409718,;SPATS2L,missense_variant,p.Lys149Asn,ENST00000438761,;SPATS2L,missense_variant,p.Lys163Asn,ENST00000409385,;SPATS2L,missense_variant,p.Lys154Asn,ENST00000449647,;SPATS2L,missense_variant,p.Lys154Asn,ENST00000409397,;SPATS2L,missense_variant,p.Lys154Asn,ENST00000453663,;SPATS2L,downstream_gene_variant,,ENST00000457757,;SPATS2L,downstream_gene_variant,,ENST00000421573,;	916	93	97	SUCCESS
WDR35	57539	.	GRCh37	2	20135328	20135328	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	75	0	ENST00000345530.3:c.2484C>G	p.Asn828Lys	p.N828K	ENST00000345530	NM_001006657.1	828	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS33152.1	2484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGTTCCG	NONE	.	.	hmmpanther:PTHR16517:SF1,hmmpanther:PTHR16517,PIRSF_domain:PIRSF037536	.	.	ENSP00000314444	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000345530	Transcript	.	.	ENSG00000118965	29250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious(0.01)	.	WDR35_HUMAN	WDR35	HGNC	.	.	UPI000034E5D3	SNV	WDR35,missense_variant,p.Asn393Lys,ENST00000416055,;WDR35,missense_variant,p.Asn828Lys,ENST00000345530,;WDR35,missense_variant,p.Asn817Lys,ENST00000281405,;WDR35,missense_variant,p.Asn363Lys,ENST00000453014,;WDR35,missense_variant,p.Asn828Lys,ENST00000414212,;WDR35,3_prime_UTR_variant,,ENST00000445063,;	2600	75	67	SUCCESS
STK11IP	114790	.	GRCh37	2	220480870	220480870	+	synonymous_variant	Silent	SNP	C	C	T	rs373252328	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	25	114	0	ENST00000295641.10:c.3255C>T	p.Ile1085=	p.I1085=	ENST00000295641	NM_052902.2	1085	atC/atT	0	T:0.0005	T:0.0038	.	T:0	.	T	I	protein_coding	YES	CCDS46521.1	3255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCGGACT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15454:SF16,hmmpanther:PTHR15454	T:0.001	T:0	ENSP00000295641	T:0	25/25	.	.	.	.	.	.	.	.	rs373252328	25/25	PASS	ENST00000295641	Transcript	.	T:0.0012	ENSG00000144589	19184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	S11IP_HUMAN	STK11IP	HGNC	C9JQV3_HUMAN	.	UPI0001AE7798	SNV	STK11IP,synonymous_variant,p.%3D,ENST00000295641,;STK11IP,synonymous_variant,p.%3D,ENST00000456909,;STK11IP,downstream_gene_variant,,ENST00000447191,;STK11IP,non_coding_transcript_exon_variant,,ENST00000494777,;STK11IP,downstream_gene_variant,,ENST00000495941,;STK11IP,downstream_gene_variant,,ENST00000413891,;	3298	114	110	SUCCESS
COL6A3	1293	.	GRCh37	2	238249491	238249491	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	46	1	ENST00000295550.4:c.8068A>G	p.Thr2690Ala	p.T2690A	ENST00000295550	NM_004369.3	2690	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33412.1	8068	SOMATICSNIPER|MUTECT|VARSCANS	.	GTCAGTCAGGG	NONE	.	.	PROSITE_profiles:PS50234,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	38/44	.	.	.	.	.	.	.	.	.	38/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Thr2083Ala,ENST00000472056,;COL6A3,missense_variant,p.Thr2484Ala,ENST00000409809,;COL6A3,missense_variant,p.Thr2690Ala,ENST00000295550,;COL6A3,missense_variant,p.Thr2489Ala,ENST00000347401,;COL6A3,missense_variant,p.Thr2490Ala,ENST00000346358,;COL6A3,missense_variant,p.Thr2484Ala,ENST00000353578,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	8521	47	62	SUCCESS
KLHL29	114818	.	GRCh37	2	23865474	23865474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	23	123	0	ENST00000486442.1:c.694C>A	p.Pro232Thr	p.P232T	ENST00000486442	NM_052920.1	232	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54335.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCCCCTG	NONE	.	.	.	.	.	ENSP00000420659	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000486442	Transcript	.	.	ENSG00000119771	29404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious_low_confidence(0)	.	KLH29_HUMAN	KLHL29	HGNC	Q53T86_HUMAN	.	UPI000058F1B6	SNV	KLHL29,missense_variant,p.Pro72Thr,ENST00000288548,;KLHL29,missense_variant,p.Pro232Thr,ENST00000486442,;KLHL29,non_coding_transcript_exon_variant,,ENST00000489446,;	1411	123	118	SUCCESS
UBE2F	140739	.	GRCh37	2	238925260	238925260	+	synonymous_variant	Silent	SNP	T	T	C	rs139771082	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	83	0	ENST00000272930.4:c.267T>C	p.Asp89=	p.D89=	ENST00000272930	NM_001278308.1	89	gaT/gaC	0	C:0	.	.	.	.	C	D	protein_coding	YES	CCDS2523.1	267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGATGCGTA	NONE	.	.	Superfamily_domains:SSF54495,SMART_domains:SM00212,Gene3D:3.10.110.10,Pfam_domain:PF00179,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF56,PROSITE_profiles:PS50127	.	C:0.0001	ENSP00000272930	.	5/10	.	.	.	.	.	.	.	.	rs139771082	5/10	PASS	ENST00000272930	Transcript	.	.	ENSG00000184182	12480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE2F_HUMAN	UBE2F	HGNC	C9J9P8_HUMAN	.	UPI000007332C	SNV	UBE2F,synonymous_variant,p.%3D,ENST00000409953,;UBE2F,synonymous_variant,p.%3D,ENST00000409332,;UBE2F,synonymous_variant,p.%3D,ENST00000448502,;UBE2F,synonymous_variant,p.%3D,ENST00000414443,;UBE2F,synonymous_variant,p.%3D,ENST00000409633,;UBE2F,synonymous_variant,p.%3D,ENST00000434137,;UBE2F,synonymous_variant,p.%3D,ENST00000434655,;UBE2F,synonymous_variant,p.%3D,ENST00000416292,;UBE2F,synonymous_variant,p.%3D,ENST00000272930,;UBE2F,synonymous_variant,p.%3D,ENST00000455999,;UBE2F,synonymous_variant,p.%3D,ENST00000433241,;UBE2F,synonymous_variant,p.%3D,ENST00000439780,;UBE2F-SCLY,synonymous_variant,p.%3D,ENST00000449191,;UBE2F,3_prime_UTR_variant,,ENST00000454786,;UBE2F,3_prime_UTR_variant,,ENST00000433568,;UBE2F,3_prime_UTR_variant,,ENST00000417231,;UBE2F,3_prime_UTR_variant,,ENST00000439338,;UBE2F,intron_variant,,ENST00000445676,;UBE2F-SCLY,intron_variant,,ENST00000449891,;UBE2F,intron_variant,,ENST00000441728,;UBE2F,intron_variant,,ENST00000440223,;	461	83	73	SUCCESS
COLEC11	78989	.	GRCh37	2	3691577	3691577	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748463932	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	118	1	ENST00000349077.4:c.685C>T	p.Arg229Cys	p.R229C	ENST00000349077	NM_024027.4	229	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS58689.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCGCAGC	BUFFER|p.G245S|c.733G>A|4,BUFFER|p.G228S|c.682G>A|4	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF14,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000411770	.	8/8	.	.	.	.	.	.	.	.	rs748463932	8/8	PASS	ENST00000418971	Transcript	.	.	ENSG00000118004	17213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	COL11_HUMAN	COLEC11	HGNC	C9JWT5_HUMAN	.	UPI0001AE7699	SNV	COLEC11,missense_variant,p.Arg205Cys,ENST00000382062,;COLEC11,missense_variant,p.Arg179Cys,ENST00000402922,;COLEC11,missense_variant,p.Arg203Cys,ENST00000403096,;COLEC11,missense_variant,p.Arg179Cys,ENST00000402794,;COLEC11,missense_variant,p.Arg229Cys,ENST00000349077,;COLEC11,missense_variant,p.Arg155Cys,ENST00000404205,;COLEC11,missense_variant,p.Arg226Cys,ENST00000236693,;COLEC11,missense_variant,p.Arg243Cys,ENST00000418971,;COLEC11,downstream_gene_variant,,ENST00000438814,;COLEC11,non_coding_transcript_exon_variant,,ENST00000487365,;COLEC11,non_coding_transcript_exon_variant,,ENST00000460971,;COLEC11,3_prime_UTR_variant,,ENST00000416132,;	938	119	106	SUCCESS
CCDC85A	114800	.	GRCh37	2	56419881	56419881	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	53	183	0	ENST00000407595.2:c.546C>A	p.Gly182=	p.G182=	ENST00000407595	NM_001080433.1	182	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46290.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCAGCCG	NONE	.	.	hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13,Pfam_domain:PF10226	.	.	ENSP00000384040	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000407595	Transcript	.	.	ENSG00000055813	29400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC85A_HUMAN	CCDC85A	HGNC	.	.	UPI00001C1DC1	SNV	CCDC85A,synonymous_variant,p.%3D,ENST00000407595,;RP11-482H16.1,intron_variant,,ENST00000607540,;	1048	183	179	SUCCESS
IGKV2D-24	28885	.	GRCh37	2	90044240	90044240	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756894750	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	223	388	1	ENST00000462693.1:c.161G>T	p.Gly54Val	p.G54V	ENST00000462693		54	gGa/gTa	0	.	.	.	.	.	T	G/V	IG_V_gene	YES	.	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGAAACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000417136	.	2/2	.	.	.	.	.	.	.	.	rs756894750	2/2	PASS	ENST00000462693	Transcript	.	.	ENSG00000241566	5797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	.	IGKV2D-24	HGNC	.	.	UPI0000176EBA	SNV	IGKV2D-24,missense_variant,p.Gly54Val,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;	191	389	409	SUCCESS
TRIM43	129868	.	GRCh37	2	96262093	96262093	+	synonymous_variant	Silent	SNP	C	C	G	rs780107967	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	265	52	335	0	ENST00000272395.2:c.651C>G	p.Val217=	p.V217=	ENST00000272395	NM_138800.1	217	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS2015.1	651	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCAAAAT	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276	.	.	ENSP00000272395	.	4/7	.	.	.	.	.	.	.	.	rs780107967	4/7	PASS	ENST00000272395	Transcript	.	.	ENSG00000144015	19015	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI43_HUMAN	TRIM43	HGNC	.	.	UPI000006E7BB	SNV	TRIM43,synonymous_variant,p.%3D,ENST00000272395,;	787	335	318	SUCCESS
HHLA2	11148	.	GRCh37	3	108076940	108076940	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs958898842	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	47	112	0	ENST00000357759.5:c.935G>A	p.Ser312Asn	p.S312N	ENST00000357759	NM_007072.2	312	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS46883.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGTGGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF44,hmmpanther:PTHR24100,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000350402	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000357759	Transcript	.	.	ENSG00000114455	4905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.375)	.	tolerated(0.06)	.	HHLA2_HUMAN	HHLA2	HGNC	C9JY43_HUMAN,C9JY13_HUMAN,C9JD07_HUMAN,C9J8J7_HUMAN	.	UPI0000073CD9	SNV	HHLA2,missense_variant,p.Ser312Asn,ENST00000489514,;HHLA2,missense_variant,p.Ser215Asn,ENST00000482099,;HHLA2,missense_variant,p.Ser312Asn,ENST00000357759,;HHLA2,missense_variant,p.Ser248Asn,ENST00000467562,;HHLA2,missense_variant,p.Ser312Asn,ENST00000467761,;HHLA2,missense_variant,p.Ser312Asn,ENST00000491820,;HHLA2,downstream_gene_variant,,ENST00000467282,;HHLA2,downstream_gene_variant,,ENST00000482430,;HHLA2,downstream_gene_variant,,ENST00000463019,;HHLA2,downstream_gene_variant,,ENST00000462629,;	1349	112	84	SUCCESS
GOLGB1	2804	.	GRCh37	3	121410144	121410144	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	68	0	ENST00000340645.5:c.8052A>G	p.Leu2684=	p.L2684=	ENST00000340645	NM_001256487.1	2684	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS58847.1	8067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTTAATTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,synonymous_variant,p.%3D,ENST00000393667,;GOLGB1,synonymous_variant,p.%3D,ENST00000340645,;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	8178	68	71	SUCCESS
GOLGB1	2804	.	GRCh37	3	121417563	121417563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	31	134	0	ENST00000340645.5:c.1792A>G	p.Met598Val	p.M598V	ENST00000340645	NM_001256487.1	598	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS58847.1	1807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATTTCTT	NONE	.	.	hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,missense_variant,p.Met603Val,ENST00000393667,;GOLGB1,missense_variant,p.Met598Val,ENST00000340645,;GOLGB1,missense_variant,p.Met562Val,ENST00000494517,;GOLGB1,missense_variant,p.Met469Val,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	1918	134	119	SUCCESS
COL6A5	256076	.	GRCh37	3	130098644	130098644	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	59	172	0	ENST00000312481.7:c.1051G>T	p.Asp351Tyr	p.D351Y	ENST00000312481		351	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGATGAT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	4/42	.	.	.	.	.	.	.	.	.	4/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.01)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Asp351Tyr,ENST00000432398,;COL6A5,missense_variant,p.Asp351Tyr,ENST00000265379,;COL6A5,missense_variant,p.Asp351Tyr,ENST00000312481,;	1545	172	211	SUCCESS
COPB2	9276	.	GRCh37	3	139096979	139096979	+	synonymous_variant	Silent	SNP	T	T	C	rs748203817	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	27	119	0	ENST00000333188.5:c.408A>G	p.Gln136=	p.Q136=	ENST00000333188	NM_004766.2	136	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS3108.1	408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACTTGTGA	NONE	byFrequency	.	Superfamily_domains:SSF50978,PIRSF_domain:PIRSF005567,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR19876,PROSITE_profiles:PS50294	.	.	ENSP00000329419	.	5/22	.	.	.	.	.	.	.	.	rs748203817	5/22	PASS	ENST00000333188	Transcript	.	.	ENSG00000184432	2232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPB2_HUMAN	COPB2	HGNC	D6RCL6_HUMAN,D6RBZ7_HUMAN,D6RBT6_HUMAN,D6RBG7_HUMAN,B4DZI8_HUMAN	.	UPI0000161FB4	SNV	COPB2,synonymous_variant,p.%3D,ENST00000333188,;COPB2,synonymous_variant,p.%3D,ENST00000507777,;COPB2,synonymous_variant,p.%3D,ENST00000512153,;COPB2,intron_variant,,ENST00000515006,;COPB2,downstream_gene_variant,,ENST00000512242,;COPB2,downstream_gene_variant,,ENST00000514508,;COPB2,downstream_gene_variant,,ENST00000513274,;COPB2,downstream_gene_variant,,ENST00000510491,;COPB2,non_coding_transcript_exon_variant,,ENST00000510181,;COPB2,downstream_gene_variant,,ENST00000504295,;	590	119	134	SUCCESS
SI	6476	.	GRCh37	3	164783108	164783108	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200745562	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	80	270	0	ENST00000264382.3:c.748C>T	p.Arg250Cys	p.R250C	ENST00000264382	NM_001041.3	250	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3196.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGAAATC	SITE|p.R250C|c.748C>T|3,BUFFER|p.R248I|c.743G>T|3	byFrequency|byCluster	.	Superfamily_domains:SSF74650,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	7/48	.	.	.	.	.	.	.	.	rs200745562,COSM116707	7/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.929)	.	deleterious(0)	0,1	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Arg250Cys,ENST00000264382,;SI,downstream_gene_variant,,ENST00000476593,;	811	270	225	SUCCESS
SLC2A2	6514	.	GRCh37	3	170715983	170715983	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs749710583	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	69	165	0	ENST00000314251.3:c.1373C>A	p.Ala458Glu	p.A458E	ENST00000314251	NM_001278659.1	458	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS3215.1	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGCAATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473	.	.	ENSP00000323568	.	10/11	.	.	.	.	.	.	.	.	rs749710583	10/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	tolerated(0.53)	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,missense_variant,p.Ala458Glu,ENST00000314251,;SLC2A2,missense_variant,p.Ala339Glu,ENST00000382808,;RNU1-70P,upstream_gene_variant,,ENST00000362618,;SLC2A2,splice_region_variant,,ENST00000469787,;SLC2A2,splice_region_variant,,ENST00000497642,;	1453	165	130	SUCCESS
SPATA16	83893	.	GRCh37	3	172834953	172834953	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	59	106	0	ENST00000351008.3:c.569A>G	p.Lys190Arg	p.K190R	ENST00000351008	NM_031955.5	190	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3221.1	569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTTTTGT	BUFFER|p.Y192Y|c.576C>T|3	.	.	hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000341765	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.486)	.	tolerated(0.21)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Lys190Arg,ENST00000351008,;	753	106	108	SUCCESS
DYNC1LI1	51143	.	GRCh37	3	32570073	32570073	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771072931	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	83	124	0	ENST00000273130.4:c.1327G>T	p.Val443Phe	p.V443F	ENST00000273130	NM_016141.3	443	Gtt/Ttt	0	-:0	.	.	.	.	A	V/F	protein_coding	YES	CCDS2654.1	1327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACGCCTT	NONE	byFrequency	.	Pfam_domain:PF05783,hmmpanther:PTHR12688:SF2,hmmpanther:PTHR12688	.	-:0.0001	ENSP00000273130	.	12/13	.	.	.	.	.	.	.	.	rs755432760,rs771072931	12/13	PASS	ENST00000273130	Transcript	.	.	ENSG00000144635	18745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	DC1L1_HUMAN	DYNC1LI1	HGNC	B3KM42_HUMAN	.	UPI000013D99D	SNV	DYNC1LI1,missense_variant,p.Val443Phe,ENST00000273130,;DYNC1LI1,missense_variant,p.Val327Phe,ENST00000432458,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000481915,;DYNC1LI1,downstream_gene_variant,,ENST00000472985,;	1431	124	135	SUCCESS
ARPP21	10777	.	GRCh37	3	35725610	35725610	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	98	1	ENST00000187397.4:c.261+303T>C		p.*87*	ENST00000187397	NM_016300.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58823.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTCTCTT	NONE	.	.	.	.	.	ENSP00000414351	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458225	Transcript	.	.	ENSG00000172995	16968	.	.	MODIFIER	5/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARP21_HUMAN	ARPP21	HGNC	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN	.	UPI0000209B3D	SNV	ARPP21,3_prime_UTR_variant,,ENST00000438071,;ARPP21,3_prime_UTR_variant,,ENST00000441454,;ARPP21,3_prime_UTR_variant,,ENST00000432682,;ARPP21,3_prime_UTR_variant,,ENST00000428373,;ARPP21,3_prime_UTR_variant,,ENST00000396482,;ARPP21,3_prime_UTR_variant,,ENST00000396481,;ARPP21,3_prime_UTR_variant,,ENST00000436702,;ARPP21,3_prime_UTR_variant,,ENST00000412048,;ARPP21,intron_variant,,ENST00000337271,;ARPP21,intron_variant,,ENST00000444190,;ARPP21,intron_variant,,ENST00000450234,;ARPP21,intron_variant,,ENST00000417925,;ARPP21,intron_variant,,ENST00000438577,;ARPP21,intron_variant,,ENST00000458225,;ARPP21,intron_variant,,ENST00000187397,;ARPP21,intron_variant,,ENST00000413378,;ARPP21,downstream_gene_variant,,ENST00000449196,;ARPP21,downstream_gene_variant,,ENST00000432450,;ARPP21,downstream_gene_variant,,ENST00000474696,;ARPP21,downstream_gene_variant,,ENST00000427542,;ARPP21,downstream_gene_variant,,ENST00000421492,;ARPP21,downstream_gene_variant,,ENST00000419330,;ARPP21,downstream_gene_variant,,ENST00000452563,;ARPP21,non_coding_transcript_exon_variant,,ENST00000461826,;ARPP21,non_coding_transcript_exon_variant,,ENST00000434383,;ARPP21,intron_variant,,ENST00000414496,;	.	99	95	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913400	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	20	137	0	ENST00000349496.5:c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000349496	NM_001904.3	33	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	98	RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	possibly_damaging(0.64)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	137	145	SUCCESS
MST1R	4486	.	GRCh37	3	49928959	49928959	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140250708	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	11	172	0	ENST00000296474.3:c.3407G>A	p.Arg1136His	p.R1136H	ENST00000296474	NM_002447.2	1136	cGt/cAt	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS2807.1	3407	MUTECT|MUSE	.	GGCCACGCATG	NONE	byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000617,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	T:0	ENSP00000296474	.	16/20	.	.	.	.	.	.	.	.	rs140250708	16/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.753)	.	deleterious(0)	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,missense_variant,p.Arg1087His,ENST00000344206,;MST1R,missense_variant,p.Arg157His,ENST00000440292,;MST1R,missense_variant,p.Arg114His,ENST00000434765,;MST1R,missense_variant,p.Arg1136His,ENST00000296474,;MST1R,3_prime_UTR_variant,,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000467110,;MST1R,downstream_gene_variant,,ENST00000490053,;	3435	172	205	SUCCESS
CADPS	8618	.	GRCh37	3	62648033	62648033	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	31	56	0	ENST00000383710.4:c.925C>T	p.Arg309Ter	p.R309*	ENST00000383710	NM_003716.3	309	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46858.1	925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGTCTGA	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,stop_gained,p.Arg309Ter,ENST00000357948,;CADPS,stop_gained,p.Arg309Ter,ENST00000283269,;CADPS,stop_gained,p.Arg309Ter,ENST00000383710,;CADPS,stop_gained,p.Arg309Ter,ENST00000490353,;	1275	56	59	SUCCESS
IL17RE	132014	.	GRCh37	3	9955676	9955676	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	55	86	0	ENST00000383814.3:c.1264A>G	p.Ile422Val	p.I422V	ENST00000383814	NM_153480.1	422	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2589.1	1264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCATTCCC	NONE	.	.	hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF5,Pfam_domain:PF15037	.	.	ENSP00000295980	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000295980	Transcript	.	.	ENSG00000163701	18439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.23)	.	I17RE_HUMAN	IL17RE	HGNC	.	.	UPI000003E87E	SNV	IL17RE,missense_variant,p.Ile455Val,ENST00000421412,;IL17RE,missense_variant,p.Ile422Val,ENST00000295980,;IL17RE,missense_variant,p.Ile422Val,ENST00000383814,;IL17RE,missense_variant,p.Ile422Val,ENST00000454190,;IL17RC,upstream_gene_variant,,ENST00000436503,;IL17RC,upstream_gene_variant,,ENST00000455057,;IL17RC,upstream_gene_variant,,ENST00000438091,;IL17RC,upstream_gene_variant,,ENST00000295981,;IL17RC,upstream_gene_variant,,ENST00000416074,;IL17RC,upstream_gene_variant,,ENST00000403601,;IL17RC,upstream_gene_variant,,ENST00000413608,;IL17RC,upstream_gene_variant,,ENST00000383812,;IL17RC,upstream_gene_variant,,ENST00000498214,;IL17RE,3_prime_UTR_variant,,ENST00000383815,;IL17RE,3_prime_UTR_variant,,ENST00000434065,;IL17RE,downstream_gene_variant,,ENST00000480244,;IL17RC,upstream_gene_variant,,ENST00000424206,;IL17RC,upstream_gene_variant,,ENST00000440502,;IL17RC,upstream_gene_variant,,ENST00000412901,;IL17RC,upstream_gene_variant,,ENST00000451231,;IL17RC,upstream_gene_variant,,ENST00000481032,;IL17RC,upstream_gene_variant,,ENST00000469686,;IL17RE,downstream_gene_variant,,ENST00000483258,;IL17RC,upstream_gene_variant,,ENST00000466046,;IL17RC,upstream_gene_variant,,ENST00000476810,;IL17RC,upstream_gene_variant,,ENST00000483582,;IL17RC,upstream_gene_variant,,ENST00000497102,;IL17RE,downstream_gene_variant,,ENST00000444427,;IL17RE,downstream_gene_variant,,ENST00000489181,;IL17RC,upstream_gene_variant,,ENST00000490512,;IL17RC,upstream_gene_variant,,ENST00000451271,;IL17RC,upstream_gene_variant,,ENST00000451165,;IL17RC,upstream_gene_variant,,ENST00000494365,;IL17RC,upstream_gene_variant,,ENST00000434756,;	1381	86	107	SUCCESS
GAB1	2549	.	GRCh37	4	144359564	144359564	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	40	96	0	ENST00000262994.4:c.1006A>T	p.Thr336Ser	p.T336S	ENST00000262994	NM_002039.3	336	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3760.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGACACTATT	NONE	.	.	hmmpanther:PTHR12156:SF18,hmmpanther:PTHR12156	.	.	ENSP00000262995	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000262995	Transcript	.	.	ENSG00000109458	4066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.55)	.	GAB1_HUMAN	GAB1	HGNC	D6RF42_HUMAN	.	UPI0000232A33	SNV	GAB1,missense_variant,p.Thr336Ser,ENST00000262994,;GAB1,missense_variant,p.Thr336Ser,ENST00000262995,;GAB1,missense_variant,p.Thr233Ser,ENST00000505913,;GAB1,intron_variant,,ENST00000512843,;GAB1,downstream_gene_variant,,ENST00000509992,;GAB1,downstream_gene_variant,,ENST00000515366,;GAB1,downstream_gene_variant,,ENST00000514639,;GAB1,upstream_gene_variant,,ENST00000508833,;GAB1,non_coding_transcript_exon_variant,,ENST00000507334,;GAB1,upstream_gene_variant,,ENST00000510615,;GAB1,upstream_gene_variant,,ENST00000507070,;GAB1,downstream_gene_variant,,ENST00000511836,;	1433	96	74	SUCCESS
FAM160A1	0	.	GRCh37	4	152571280	152571280	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1270915698	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	94	0	ENST00000435205.1:c.2087A>G	p.Glu696Gly	p.E696G	ENST00000435205	NM_001109977.1	696	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47146.1	2087	MUTECT|MUSE	.	GGAGGAGTGGA	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705	.	.	ENSP00000413196	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.11)	.	tolerated(0.11)	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Glu696Gly,ENST00000435205,;FAM160A1,missense_variant,p.Glu696Gly,ENST00000505231,;	2662	94	58	SUCCESS
CC2D2A	57545	.	GRCh37	4	15589442	15589442	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	36	0	ENST00000424120.1:c.4069T>C	p.Phe1357Leu	p.F1357L	ENST00000424120		1357	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS47026.1	4069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAATTTCTT	NONE	.	.	hmmpanther:PTHR20837:SF4,hmmpanther:PTHR20837	.	.	ENSP00000403465	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000424120	Transcript	1	.	ENSG00000048342	29253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	deleterious(0.01)	.	C2D2A_HUMAN	CC2D2A	HGNC	D6R9V3_HUMAN	.	UPI000023731A	SNV	CC2D2A,missense_variant,p.Phe1357Leu,ENST00000503292,;CC2D2A,missense_variant,p.Phe1357Leu,ENST00000413206,;CC2D2A,missense_variant,p.Phe1249Leu,ENST00000389652,;CC2D2A,missense_variant,p.Phe1357Leu,ENST00000424120,;CC2D2A,upstream_gene_variant,,ENST00000514039,;CC2D2A,missense_variant,p.Phe800Leu,ENST00000506643,;	4323	36	31	SUCCESS
TENM3	55714	.	GRCh37	4	183721306	183721306	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	10	0	ENST00000511685.1:c.7902G>A	p.Ala2634=	p.A2634=	ENST00000511685		2634	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47165.1	7902	RADIA|MUTECT|MUSE	.	TGGGCGCGCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Pfam_domain:PF15636	.	.	ENSP00000424226	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,synonymous_variant,p.%3D,ENST00000511685,;TENM3,synonymous_variant,p.%3D,ENST00000406950,;	8025	10	11	SUCCESS
SORBS2	8470	.	GRCh37	4	186598712	186598712	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	34	0	ENST00000284776.7:c.-46+865G>C		p.*16*	ENST00000284776	NM_021069.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59482.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAACTGGTC	NONE	.	.	.	.	.	ENSP00000347852	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355634	Transcript	.	.	ENSG00000154556	24098	.	.	MODIFIER	7/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBS2_HUMAN	SORBS2	HGNC	C9JZ60_HUMAN,C9JN77_HUMAN,C9JL62_HUMAN,C9JI79_HUMAN,C9JDX2_HUMAN,C9JBR8_HUMAN,C9JBB0_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4Z9_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9J372_HUMAN,C9IZT7_HUMAN,C9IZ89_HUMAN	.	UPI000198C7F0	SNV	SORBS2,missense_variant,p.Gln112His,ENST00000421420,;SORBS2,5_prime_UTR_variant,,ENST00000437304,;SORBS2,intron_variant,,ENST00000420158,;SORBS2,intron_variant,,ENST00000415274,;SORBS2,intron_variant,,ENST00000448662,;SORBS2,intron_variant,,ENST00000457247,;SORBS2,intron_variant,,ENST00000439049,;SORBS2,intron_variant,,ENST00000445115,;SORBS2,intron_variant,,ENST00000284776,;SORBS2,intron_variant,,ENST00000355634,;SORBS2,intron_variant,,ENST00000431902,;SORBS2,intron_variant,,ENST00000393523,;SORBS2,intron_variant,,ENST00000450341,;SORBS2,intron_variant,,ENST00000428330,;SORBS2,intron_variant,,ENST00000435480,;SORBS2,intron_variant,,ENST00000451701,;SORBS2,intron_variant,,ENST00000451958,;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000449407,;SORBS2,intron_variant,,ENST00000445343,;SORBS2,intron_variant,,ENST00000439914,;SORBS2,intron_variant,,ENST00000414724,;SORBS2,intron_variant,,ENST00000444771,;SORBS2,intron_variant,,ENST00000425679,;SORBS2,intron_variant,,ENST00000457934,;SORBS2,intron_variant,,ENST00000431808,;SORBS2,intron_variant,,ENST00000432655,;SORBS2,intron_variant,,ENST00000430503,;SORBS2,intron_variant,,ENST00000444781,;SORBS2,intron_variant,,ENST00000393528,;SORBS2,intron_variant,,ENST00000419063,;SORBS2,intron_variant,,ENST00000421639,;SORBS2,intron_variant,,ENST00000456596,;SORBS2,intron_variant,,ENST00000319471,;SORBS2,downstream_gene_variant,,ENST00000429056,;SORBS2,downstream_gene_variant,,ENST00000452351,;RP11-626E13.1,downstream_gene_variant,,ENST00000447277,;SORBS2,non_coding_transcript_exon_variant,,ENST00000464975,;SORBS2,non_coding_transcript_exon_variant,,ENST00000464819,;SORBS2,intron_variant,,ENST00000493709,;SORBS2,downstream_gene_variant,,ENST00000478249,;SORBS2,downstream_gene_variant,,ENST00000463104,;SORBS2,intron_variant,,ENST00000470685,;	.	34	23	SUCCESS
ANAPC4	29945	.	GRCh37	4	25419263	25419263	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	120	0	ENST00000315368.3:c.2101C>G	p.Pro701Ala	p.P701A	ENST00000315368	NM_013367.2	701	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS3434.1	2101	MUTECT|MUSE	.	CTATTCCCACC	NONE	.	.	hmmpanther:PTHR13260,PIRSF_domain:PIRSF037303	.	.	ENSP00000318775	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000315368	Transcript	.	.	ENSG00000053900	19990	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.17)	.	APC4_HUMAN	ANAPC4	HGNC	D6RAP6_HUMAN	.	UPI000013D583	SNV	ANAPC4,missense_variant,p.Pro702Ala,ENST00000510092,;ANAPC4,missense_variant,p.Pro701Ala,ENST00000315368,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000504256,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000506973,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000515848,;ANAPC4,downstream_gene_variant,,ENST00000505842,;	2243	120	75	SUCCESS
PCDH7	5099	.	GRCh37	4	30921954	30921954	+	synonymous_variant	Silent	SNP	G	G	T	rs746447440	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	85	0	ENST00000543491.1:c.3354G>T	p.Pro1118=	p.P1118=	ENST00000543491		1118	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54753.1	3354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGGATGG	NONE	.	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027	.	.	ENSP00000441802	.	2/3	.	.	.	.	.	.	.	.	rs746447440	2/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000511884,;PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509925,;	3354	85	75	SUCCESS
PPAT	5471	.	GRCh37	4	57261616	57261616	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	59	238	0	ENST00000264220.2:c.1456A>C	p.Met486Leu	p.M486L	ENST00000264220	NM_002703.4	486	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS3505.1	1456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCATAATAT	NONE	.	.	hmmpanther:PTHR11907,hmmpanther:PTHR11907:SF3,PIRSF_domain:PIRSF000485,Superfamily_domains:SSF53271	.	.	ENSP00000264220	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000264220	Transcript	.	.	ENSG00000128059	9238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.45)	.	PUR1_HUMAN	PPAT	HGNC	A8K4H7_HUMAN	.	UPI0000000C5A	SNV	PPAT,missense_variant,p.Met486Leu,ENST00000264220,;RP11-646I6.6,upstream_gene_variant,,ENST00000602749,;PPAT,non_coding_transcript_exon_variant,,ENST00000425339,;	1594	238	166	SUCCESS
PAICS	10606	.	GRCh37	4	57302417	57302417	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	159	1	ENST00000264221.2:c.-51-11C>T		p.*17*	ENST00000264221	NM_006452.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47060.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCTCTTT	NONE	.	.	.	.	.	ENSP00000382595	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000399688	Transcript	.	.	ENSG00000128050	8587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUR6_HUMAN	PAICS	HGNC	D6RF62_HUMAN	.	UPI0000E9B4A6	SNV	PAICS,5_prime_UTR_variant,,ENST00000512576,;PAICS,5_prime_UTR_variant,,ENST00000399688,;PAICS,intron_variant,,ENST00000264221,;PAICS,intron_variant,,ENST00000514888,;PAICS,intron_variant,,ENST00000505164,;PPAT,upstream_gene_variant,,ENST00000264220,;PAICS,non_coding_transcript_exon_variant,,ENST00000504188,;PAICS,non_coding_transcript_exon_variant,,ENST00000510584,;PPAT,upstream_gene_variant,,ENST00000510643,;PPAT,upstream_gene_variant,,ENST00000507724,;	114	160	109	SUCCESS
LPHN3	0	.	GRCh37	4	62845284	62845284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	115	0	ENST00000514591.1:c.2605A>G	p.Ser869Gly	p.S869G	ENST00000514591		869	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS54768.1	2605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGTGAT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60	.	.	ENSP00000422533	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.54)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Ser937Gly,ENST00000507625,;LPHN3,missense_variant,p.Ser869Gly,ENST00000508946,;LPHN3,missense_variant,p.Ser869Gly,ENST00000506700,;LPHN3,missense_variant,p.Ser327Gly,ENST00000502815,;LPHN3,missense_variant,p.Ser937Gly,ENST00000509896,;LPHN3,missense_variant,p.Ser937Gly,ENST00000511324,;LPHN3,missense_variant,p.Ser869Gly,ENST00000545650,;LPHN3,missense_variant,p.Ser937Gly,ENST00000506720,;LPHN3,missense_variant,p.Ser869Gly,ENST00000504896,;LPHN3,missense_variant,p.Ser869Gly,ENST00000514591,;LPHN3,missense_variant,p.Ser937Gly,ENST00000508693,;LPHN3,missense_variant,p.Ser937Gly,ENST00000506746,;LPHN3,missense_variant,p.Ser869Gly,ENST00000514996,;LPHN3,missense_variant,p.Ser869Gly,ENST00000512091,;LPHN3,missense_variant,p.Ser869Gly,ENST00000514157,;LPHN3,missense_variant,p.Ser937Gly,ENST00000507164,;	2934	115	95	SUCCESS
UGT2B4	7363	.	GRCh37	4	70361015	70361018	+	frameshift_variant	Frame_Shift_Del	DEL	ACAG	ACAG	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	ACAG	ACAG	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	161	0	ENST00000305107.6:c.562_565del	p.Leu188SerfsTer13	p.L188Sfs*13	ENST00000305107	NM_021139.2	188	CTGTtc/tc	0	.	.	.	.	.	-	LF/X	protein_coding	YES	CCDS43234.1	562-565	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGGAACAGAAGTC	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,frameshift_variant,p.Leu188SerfsTer13,ENST00000305107,;UGT2B4,frameshift_variant,p.Leu188SerfsTer13,ENST00000512583,;UGT2B4,frameshift_variant,p.Leu52SerfsTer13,ENST00000381096,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;	609-612	161	120	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86916340	86916340	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	125	0	ENST00000395184.1:c.1533G>C	p.Leu511=	p.L511=	ENST00000395184	NM_001025616.2	511	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS34025.1	1533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGAGGGA	NONE	.	.	hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5	.	.	ENSP00000378611	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,synonymous_variant,p.%3D,ENST00000264343,;ARHGAP24,synonymous_variant,p.%3D,ENST00000514229,;ARHGAP24,synonymous_variant,p.%3D,ENST00000395184,;ARHGAP24,synonymous_variant,p.%3D,ENST00000395183,;	1999	125	93	SUCCESS
MAN2A1	4124	.	GRCh37	5	109065183	109065183	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs777987831	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	30	90	0	ENST00000261483.4:c.676A>G	p.Ile226Val	p.I226V	ENST00000261483	NM_002372.2	226	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34209.1	676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTATAGAT	NONE	byFrequency	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:3.20.110.10,Pfam_domain:PF01074,Superfamily_domains:SSF88713	.	.	ENSP00000261483	.	4/22	.	.	.	.	.	.	.	.	rs777987831	4/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.08)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Ile226Val,ENST00000261483,;	1728	90	102	SUCCESS
KCNN2	3781	.	GRCh37	5	113798873	113798873	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	99	0	ENST00000264773.3:c.1129C>G	p.Leu377Val	p.L377V	ENST00000264773	NM_001278204.1	377	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS4114.1	1129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTACTTACT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000427120	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000512097	Transcript	.	.	ENSG00000080709	6291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	tolerated(0.15)	.	KCNN2_HUMAN	KCNN2	HGNC	.	.	UPI000013D56A	SNV	KCNN2,missense_variant,p.Leu377Val,ENST00000512097,;KCNN2,missense_variant,p.Leu29Val,ENST00000503706,;KCNN2,missense_variant,p.Leu377Val,ENST00000264773,;KCNN2,non_coding_transcript_exon_variant,,ENST00000507750,;KCNN2,missense_variant,p.Leu29Val,ENST00000505491,;	2147	99	93	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128956382	128956382	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs544559514	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	73	116	1	ENST00000274487.4:c.1532T>A	p.Ile511Asn	p.I511N	ENST00000274487	NM_133638.3	511	aTt/aAt	0	.	C:0.0008	.	C:0	.	A	I/N	protein_coding	YES	CCDS4146.1	1532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATTAAAG	NONE	by1000G	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	C:0	.	ENSP00000274487	C:0	9/23	.	.	.	.	.	.	.	.	rs544559514	9/23	PASS	ENST00000274487	Transcript	.	C:0.0002	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	C:0	deleterious(0)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Ile511Asn,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1677	117	126	SUCCESS
PSD2	84249	.	GRCh37	5	139218319	139218319	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764323415	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	29	120	0	ENST00000274710.3:c.1930C>T	p.Arg644Trp	p.R644W	ENST00000274710	NM_032289.2	644	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4216.1	1930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCGGCCC	NONE	byFrequency	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109,Superfamily_domains:SSF50729	.	.	ENSP00000274710	.	13/15	.	.	.	.	.	.	.	.	rs764323415,COSM3609253	13/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,1	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Arg644Trp,ENST00000274710,;	2135	120	145	SUCCESS
PCDHGA9	56107	.	GRCh37	5	140783284	140783284	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	101	163	0	ENST00000573521.1:c.765G>T	p.Val255=	p.V255=	ENST00000573521	NM_018921.2	255	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS58981.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGTGCCCCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF86,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000460274	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000573521	Transcript	.	.	ENSG00000261934	8707	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG9_HUMAN	PCDHGA9	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000721C3	SNV	PCDHGA9,synonymous_variant,p.%3D,ENST00000573521,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB6,upstream_gene_variant,,ENST00000520790,;	765	163	159	SUCCESS
WWC1	23286	.	GRCh37	5	167826554	167826554	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	49	233	0	ENST00000265293.4:c.572G>A	p.Gly191Asp	p.G191D	ENST00000265293	NM_001161662.1	191	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS54945.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGCTTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14791:SF22,hmmpanther:PTHR14791	.	.	ENSP00000427772	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000521089	Transcript	.	.	ENSG00000113645	29435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIBRA_HUMAN	WWC1	HGNC	.	.	UPI00017A7149	SNV	WWC1,missense_variant,p.Gly153Asp,ENST00000393895,;WWC1,missense_variant,p.Gly191Asp,ENST00000265293,;WWC1,missense_variant,p.Gly191Asp,ENST00000521089,;WWC1,non_coding_transcript_exon_variant,,ENST00000523043,;WWC1,downstream_gene_variant,,ENST00000519859,;	575	233	232	SUCCESS
ANXA2R	389289	.	GRCh37	5	43040045	43040045	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	22	117	0	ENST00000314890.3:c.104C>G	p.Pro35Arg	p.P35R	ENST00000314890	NM_001014279.2	35	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS34153.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGGCCCA	NONE	.	.	.	.	.	ENSP00000315915	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314890	Transcript	.	.	ENSG00000177721	33463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	tolerated(0.09)	.	AX2R_HUMAN	ANXA2R	HGNC	.	.	UPI0000072CD4	SNV	ANXA2R,missense_variant,p.Pro35Arg,ENST00000314890,;CTD-2201E18.3,intron_variant,,ENST00000503152,;AC025171.1,upstream_gene_variant,,ENST00000505541,;AC025171.1,upstream_gene_variant,,ENST00000451894,;AC025171.1,upstream_gene_variant,,ENST00000508913,;AC025171.1,upstream_gene_variant,,ENST00000515108,;AC025171.1,upstream_gene_variant,,ENST00000399543,;	1524	118	125	SUCCESS
HCN1	348980	.	GRCh37	5	45695868	45695868	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1350895787	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	46	0	ENST00000303230.4:c.328T>G	p.Ser110Ala	p.S110A	ENST00000303230	NM_021072.3	110	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS3952.1	328	MUTECT|MUSE|VARSCANS	.	GAGGGAGAATT	NONE	.	.	Pfam_domain:PF08412,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217	.	.	ENSP00000307342	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.886)	.	tolerated(0.2)	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Ser110Ala,ENST00000303230,;	386	46	55	SUCCESS
TAF9	6880	.	GRCh37	5	68665293	68665293	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs544748486	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	92	134	0	ENST00000380822.4:c.25A>T	p.Thr9Ser	p.T9S	ENST00000380822	NM_016283.4	9	Acc/Tcc	0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS4003.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGTGAGCA	NONE	by1000G	340	.	C:0	.	ENSP00000426191	C:0	.	.	.	.	.	.	.	.	.	rs544748486	.	PASS	ENST00000509734	Transcript	.	C:0.0002	ENSG00000152942	9807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	RAD17_HUMAN	RAD17	HGNC	D6RHU1_HUMAN	.	UPI000013DD06	SNV	RAD17,splice_donor_variant,,ENST00000507927,;RAD17,splice_donor_variant,,ENST00000361732,;TAF9,missense_variant,p.Thr9Ser,ENST00000380822,;TAF9,missense_variant,p.Thr9Ser,ENST00000512561,;TAF9,5_prime_UTR_variant,,ENST00000503245,;TAF9,5_prime_UTR_variant,,ENST00000512152,;TAF9,5_prime_UTR_variant,,ENST00000217893,;TAF9,intron_variant,,ENST00000380818,;TAF9,intron_variant,,ENST00000328663,;RAD17,upstream_gene_variant,,ENST00000358030,;RAD17,upstream_gene_variant,,ENST00000354868,;TAF9,upstream_gene_variant,,ENST00000509462,;RAD17,upstream_gene_variant,,ENST00000506564,;RAD17,upstream_gene_variant,,ENST00000345306,;RAD17,upstream_gene_variant,,ENST00000305138,;RAD17,upstream_gene_variant,,ENST00000282891,;RAD17,upstream_gene_variant,,ENST00000354312,;RAD17,upstream_gene_variant,,ENST00000509734,;RAD17,upstream_gene_variant,,ENST00000380774,;TAF9,upstream_gene_variant,,ENST00000504109,;RAD17,upstream_gene_variant,,ENST00000521422,;TAF9,upstream_gene_variant,,ENST00000506736,;RAD17,upstream_gene_variant,,ENST00000512785,;TAF9,upstream_gene_variant,,ENST00000508954,;RAD17,splice_donor_variant,,ENST00000514066,;TAF9,non_coding_transcript_exon_variant,,ENST00000502819,;RAD17,upstream_gene_variant,,ENST00000504177,;RAD17,upstream_gene_variant,,ENST00000511349,;	.	135	156	SUCCESS
GPR98	0	.	GRCh37	5	90445963	90445963	+	synonymous_variant	Silent	SNP	G	G	A	rs192571483	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	27	128	0	ENST00000405460.2:c.18549G>A	p.Thr6183=	p.T6183=	ENST00000405460	NM_032119.3	6183	acG/acA	0	A:0	A:0.0008	.	A:0	.	A	T	protein_coding	YES	CCDS47246.1	18549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGCCCGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	A:0.001	A:0.0001	ENSP00000384582	A:0	88/90	.	.	.	.	.	.	.	.	rs192571483,COSM1439125	88/90	PASS	ENST00000405460	Transcript	1	A:0.0004	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;GPR98,synonymous_variant,p.%3D,ENST00000425867,;	18645	128	133	SUCCESS
GCNT2	2651	.	GRCh37	6	10586228	10586228	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	52	0	ENST00000379597.3:c.926-35356C>G		p.*309*	ENST00000379597				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34338.1	.	MUTECT|MUSE	.	ATGAACTTTTG	NONE	.	.	.	.	.	ENSP00000368917	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379597	Transcript	.	.	ENSG00000111846	4204	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNT2A_HUMAN	GCNT2	HGNC	Q8N7N7_HUMAN,Q08M29_HUMAN	.	UPI000006E705	SNV	GCNT2,missense_variant,p.Asn2Lys,ENST00000265012,;GCNT2,intron_variant,,ENST00000495262,;GCNT2,intron_variant,,ENST00000316170,;GCNT2,intron_variant,,ENST00000379597,;GCNT2,intron_variant,,ENST00000410107,;GCNT2,intron_variant,,ENST00000459872,;GCNT2,intron_variant,,ENST00000397423,;GCNT2,intron_variant,,ENST00000489225,;GCNT2,intron_variant,,ENST00000475577,;GCNT2,intron_variant,,ENST00000474518,;GCNT2,intron_variant,,ENST00000489819,;GCNT2,intron_variant,,ENST00000485764,;GCNT2,intron_variant,,ENST00000461400,;	.	52	70	SUCCESS
ENPP3	5169	.	GRCh37	6	131996239	131996239	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776096391	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	115	0	ENST00000357639.3:c.782A>G	p.Tyr261Cys	p.Y261C	ENST00000357639	NM_005021.3	261	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5148.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTATCAAG	NONE	byFrequency	.	hmmpanther:PTHR10151:SF55,hmmpanther:PTHR10151,Pfam_domain:PF01663,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000406261	.	10/26	.	.	.	.	.	.	.	.	rs776096391	10/26	PASS	ENST00000414305	Transcript	.	.	ENSG00000154269	3358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.04)	.	ENPP3_HUMAN	ENPP3	HGNC	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN	.	UPI000013DD9F	SNV	ENPP3,missense_variant,p.Tyr261Cys,ENST00000414305,;ENPP3,missense_variant,p.Tyr261Cys,ENST00000358229,;ENPP3,missense_variant,p.Tyr261Cys,ENST00000357639,;ENPP3,missense_variant,p.Tyr227Cys,ENST00000543135,;ENPP3,3_prime_UTR_variant,,ENST00000427148,;ENPP3,downstream_gene_variant,,ENST00000470930,;ENPP3,3_prime_UTR_variant,,ENST00000427707,;ENPP3,non_coding_transcript_exon_variant,,ENST00000494023,;	1110	115	76	SUCCESS
SYNE1	23345	.	GRCh37	6	152749436	152749436	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	31	0	ENST00000367255.5:c.4880A>G	p.Gln1627Arg	p.Q1627R	ENST00000367255	NM_182961.3	1627	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5236.2	4880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	37/146	.	.	.	.	.	.	.	.	.	37/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.298)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Gln1634Arg,ENST00000448038,;SYNE1,missense_variant,p.Gln1627Arg,ENST00000367255,;SYNE1,missense_variant,p.Gln1634Arg,ENST00000423061,;SYNE1,missense_variant,p.Gln1697Arg,ENST00000341594,;SYNE1,missense_variant,p.Gln1627Arg,ENST00000367253,;SYNE1,missense_variant,p.Gln1627Arg,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	5482	31	23	SUCCESS
SYNE1	23345	.	GRCh37	6	152804308	152804308	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs150409035	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	62	0	ENST00000367255.5:c.1262C>A	p.Ala421Glu	p.A421E	ENST00000367255	NM_182961.3	421	gCg/gAg	0	A:0	.	.	.	.	T	A/E	protein_coding	YES	CCDS5236.2	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGCTCTG	NONE	byCluster	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	A:0.0001	ENSP00000356224	.	14/146	.	.	.	.	.	.	.	.	rs150409035	14/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Ala421Glu,ENST00000466159,;SYNE1,missense_variant,p.Ala411Glu,ENST00000367248,;SYNE1,missense_variant,p.Ala428Glu,ENST00000423061,;SYNE1,missense_variant,p.Ala428Glu,ENST00000448038,;SYNE1,missense_variant,p.Ala404Glu,ENST00000537750,;SYNE1,missense_variant,p.Ala421Glu,ENST00000367255,;SYNE1,missense_variant,p.Ala421Glu,ENST00000413186,;SYNE1,missense_variant,p.Ala421Glu,ENST00000341594,;SYNE1,missense_variant,p.Ala421Glu,ENST00000367253,;SYNE1,missense_variant,p.Ala421Glu,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000535896,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	1864	62	52	SUCCESS
ARID1B	57492	.	GRCh37	6	157527359	157527359	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	83	0	ENST00000346085.5:c.5084T>G	p.Phe1695Cys	p.F1695C	ENST00000346085	NM_020732.3	1695	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS55072.1	5084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTTGGAA	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Phe1735Cys,ENST00000367148,;ARID1B,missense_variant,p.Phe1682Cys,ENST00000350026,;ARID1B,missense_variant,p.Phe1204Cys,ENST00000414678,;ARID1B,missense_variant,p.Phe1677Cys,ENST00000275248,;ARID1B,missense_variant,p.Phe1695Cys,ENST00000346085,;	5085	84	61	SUCCESS
LPA	4018	.	GRCh37	6	161010720	161010720	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759731842	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	110	0	ENST00000316300.5:c.3812T>A	p.Val1271Asp	p.V1271D	ENST00000316300		1271	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS43523.1	3812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTGTG	NONE	.	.	hmmpanther:PTHR24261,Gene3D:2.40.20.10,Superfamily_domains:SSF57440	.	.	ENSP00000395608	.	25/40	.	.	.	.	.	.	.	.	rs759731842	25/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.41)	.	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,missense_variant,p.Val1271Asp,ENST00000316300,;LPA,missense_variant,p.Val1271Asp,ENST00000447678,;	3933	111	93	SUCCESS
PDE10A	10846	.	GRCh37	6	165844911	165844911	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	47	291	0	ENST00000366882.1:c.713A>G	p.Gln238Arg	p.Q238R	ENST00000366882		238	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS47513.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTGCACC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Gene3D:3.30.450.40,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000438284	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0.05)	.	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,missense_variant,p.Gln238Arg,ENST00000354448,;PDE10A,missense_variant,p.Gln248Arg,ENST00000539869,;PDE10A,missense_variant,p.Gln238Arg,ENST00000366882,;	799	291	195	SUCCESS
VWA7	80737	.	GRCh37	6	31736938	31736938	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs369133546	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	55	0	ENST00000375688.4:c.1360C>T	p.Arg454Ter	p.R454*	ENST00000375688		454	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS4721.2	1360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCGACCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	.	A:0.0002	ENSP00000364840	.	10/17	.	.	.	.	.	.	.	.	rs369133546	10/17	PASS	ENST00000375688	Transcript	.	.	ENSG00000204396	13939	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA7_HUMAN	VWA7	HGNC	.	.	UPI0000E5AD19	SNV	VWA7,stop_gained,p.Arg454Ter,ENST00000447450,;VWA7,stop_gained,p.Arg454Ter,ENST00000375688,;VWA7,stop_gained,p.Arg454Ter,ENST00000375686,;MSH5,downstream_gene_variant,,ENST00000534153,;SAPCD1,downstream_gene_variant,,ENST00000415669,;SAPCD1,downstream_gene_variant,,ENST00000425424,;SAPCD1-AS1,upstream_gene_variant,,ENST00000419679,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,downstream_gene_variant,,ENST00000487013,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000498473,;SAPCD1,downstream_gene_variant,,ENST00000494299,;VWA7,upstream_gene_variant,,ENST00000486423,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000493662,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000476085,;	1561	55	81	SUCCESS
EHMT2	10919	.	GRCh37	6	31864772	31864772	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	57	195	0	ENST00000375537.4:c.43-6T>C		p.X15_splice	ENST00000375537	NM_006709.3	15		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4725.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGAGGGGA	NONE	.	.	.	.	.	ENSP00000364687	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375537	Transcript	.	.	ENSG00000204371	14129	.	.	LOW	1/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHMT2_HUMAN	EHMT2	HGNC	.	.	UPI000013D085	SNV	EHMT2,missense_variant,p.Ser70Pro,ENST00000375528,;EHMT2,missense_variant,p.Ser70Pro,ENST00000395728,;EHMT2,splice_region_variant,,ENST00000375537,;EHMT2,splice_region_variant,,ENST00000375530,;C2,upstream_gene_variant,,ENST00000452202,;ZBTB12,downstream_gene_variant,,ENST00000375527,;C2,upstream_gene_variant,,ENST00000469372,;C2,upstream_gene_variant,,ENST00000497706,;C2,upstream_gene_variant,,ENST00000452323,;EHMT2,upstream_gene_variant,,ENST00000480912,;EHMT2,splice_region_variant,,ENST00000465429,;EHMT2,upstream_gene_variant,,ENST00000463484,;	.	195	212	SUCCESS
GUCA1A	2978	.	GRCh37	6	42147077	42147077	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs558249974	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	19	199	0	ENST00000053469.4:c.542G>A	p.Arg181His	p.R181H	ENST00000053469	NM_000409.3	181	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4864.1	542	MUTECT|MUSE	.	CGTGCGCAGGC	NONE	.	.	hmmpanther:PTHR23055:SF13,hmmpanther:PTHR23055	.	.	ENSP00000377784	.	6/6	.	.	.	.	.	.	.	.	rs558249974	6/6	PASS	ENST00000394237	Transcript	.	.	ENSG00000048545	4678	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.07)	.	GUC1A_HUMAN	GUCA1A	HGNC	A6PVH5_HUMAN	.	UPI0000001C22	SNV	GUCA1A,missense_variant,p.Arg181His,ENST00000372958,;GUCA1A,missense_variant,p.Arg181His,ENST00000541991,;GUCA1A,missense_variant,p.Arg181His,ENST00000394237,;GUCA1A,missense_variant,p.Arg181His,ENST00000053469,;GUCA1A,downstream_gene_variant,,ENST00000418175,;	1518	199	303	SUCCESS
RIMS1	22999	.	GRCh37	6	73102465	73102465	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	102	0	ENST00000521978.1:c.4571G>A	p.Gly1524Glu	p.G1524E	ENST00000521978	NM_014989.5	1524	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS47449.1	4571	MUTECT|MUSE	.	ATTGGGACCAG	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Gly51Glu,ENST00000414192,;RIMS1,missense_variant,p.Gly1347Glu,ENST00000491071,;RIMS1,missense_variant,p.Gly658Glu,ENST00000517827,;RIMS1,missense_variant,p.Gly689Glu,ENST00000453976,;RIMS1,missense_variant,p.Gly1123Glu,ENST00000522291,;RIMS1,missense_variant,p.Gly330Glu,ENST00000538414,;RIMS1,missense_variant,p.Gly442Glu,ENST00000522211,;RIMS1,missense_variant,p.Gly1174Glu,ENST00000520567,;RIMS1,missense_variant,p.Gly1203Glu,ENST00000518273,;RIMS1,missense_variant,p.Gly1307Glu,ENST00000517960,;RIMS1,missense_variant,p.Gly870Glu,ENST00000517433,;RIMS1,missense_variant,p.Gly649Glu,ENST00000523963,;RIMS1,missense_variant,p.Gly592Glu,ENST00000425662,;RIMS1,missense_variant,p.Gly1373Glu,ENST00000264839,;RIMS1,missense_variant,p.Gly844Glu,ENST00000401910,;RIMS1,missense_variant,p.Gly1307Glu,ENST00000348717,;RIMS1,missense_variant,p.Gly1524Glu,ENST00000521978,;RIMS1,missense_variant,p.Gly572Glu,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000431478,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	4571	102	78	SUCCESS
GIGYF1	64599	.	GRCh37	7	100284400	100284400	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	11	125	0	ENST00000275732.5:c.566A>G	p.Glu189Gly	p.E189G	ENST00000275732	NM_022574.4	189	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS34708.1	566	MUTECT|MUSE	.	CGTGCTCCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37	.	.	ENSP00000275732	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000275732	Transcript	.	.	ENSG00000146830	9126	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	PERQ1_HUMAN	GIGYF1	HGNC	.	.	UPI00001BD8AD	SNV	GIGYF1,missense_variant,p.Glu189Gly,ENST00000275732,;GIGYF1,intron_variant,,ENST00000471340,;GIGYF1,upstream_gene_variant,,ENST00000472105,;GIGYF1,upstream_gene_variant,,ENST00000464111,;	1776	125	192	SUCCESS
SRRT	51593	.	GRCh37	7	100484804	100484804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	45	77	1	ENST00000347433.4:c.1958G>A	p.Arg653His	p.R653H	ENST00000347433		653	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS34709.1	1958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCGCATCA	NONE	.	.	hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0,Pfam_domain:PF04959	.	.	ENSP00000314491	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000347433	Transcript	.	.	ENSG00000087087	24101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	SRRT_HUMAN	SRRT	HGNC	.	.	UPI0000126098	SNV	SRRT,missense_variant,p.Arg283His,ENST00000448764,;SRRT,missense_variant,p.Arg652His,ENST00000388793,;SRRT,missense_variant,p.Arg653His,ENST00000457580,;SRRT,missense_variant,p.Arg653His,ENST00000347433,;SRRT,missense_variant,p.Arg652His,ENST00000432932,;ACHE,downstream_gene_variant,,ENST00000241069,;ACHE,downstream_gene_variant,,ENST00000419336,;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000426415,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000412389,;UFSP1,downstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000302913,;SRRT,non_coding_transcript_exon_variant,,ENST00000469602,;SRRT,non_coding_transcript_exon_variant,,ENST00000487311,;ACHE,downstream_gene_variant,,ENST00000442452,;SRRT,downstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000466432,;ACHE,downstream_gene_variant,,ENST00000454485,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000460194,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;	2116	78	93	SUCCESS
RELN	5649	.	GRCh37	7	103126731	103126731	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1207623619	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	37	144	0	ENST00000428762.1:c.9896C>T	p.Ala3299Val	p.A3299V	ENST00000428762	NM_005045.3	3299	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47680.1	9896	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCCAGC	BUFFER|p.Y3301Y|c.9903C>T|3	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	61/65	.	.	.	.	.	.	.	.	.	61/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.62)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Ala3299Val,ENST00000424685,;RELN,missense_variant,p.Ala3299Val,ENST00000428762,;RELN,missense_variant,p.Ala3299Val,ENST00000343529,;RELN,upstream_gene_variant,,ENST00000429186,;CTB-107G13.1,intron_variant,,ENST00000422488,;RN7SKP86,upstream_gene_variant,,ENST00000410454,;RELN,upstream_gene_variant,,ENST00000473945,;	10056	144	215	SUCCESS
LAMB1	3912	.	GRCh37	7	107569615	107569615	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772591661	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	68	1	ENST00000222399.6:c.4781T>C	p.Met1594Thr	p.M1594T	ENST00000222399	NM_002291.2	1594	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS5750.1	4781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCATATCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574,Superfamily_domains:SSF46579	.	.	ENSP00000222399	.	31/34	.	.	.	.	.	.	.	.	rs772591661,COSM1083935	31/34	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated(0.6)	0,1	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	SNV	LAMB1,missense_variant,p.Met1618Thr,ENST00000393561,;LAMB1,missense_variant,p.Met1594Thr,ENST00000222399,;LAMB1,downstream_gene_variant,,ENST00000474380,;LAMB1,downstream_gene_variant,,ENST00000468518,;LAMB1,non_coding_transcript_exon_variant,,ENST00000472714,;DLD,intron_variant,,ENST00000417551,;	5012	69	101	SUCCESS
AASS	10157	.	GRCh37	7	121716604	121716604	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	78	0	ENST00000393376.1:c.2720T>G	p.Ile907Arg	p.I907R	ENST00000393376		907	aTa/aGa	0	.	.	.	.	.	C	I/R	protein_coding	YES	CCDS5783.1	2720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATATTGGT	NONE	.	.	hmmpanther:PTHR11133:SF11,hmmpanther:PTHR11133,Pfam_domain:PF03435	.	.	ENSP00000377040	.	23/23	.	.	.	.	.	.	.	.	COSM1741420	23/23	PASS	ENST00000393376	Transcript	.	.	ENSG00000008311	17366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.701)	.	deleterious(0)	1	AASS_HUMAN	AASS	HGNC	A4D0W4_HUMAN	.	UPI000004A105	SNV	AASS,missense_variant,p.Ile907Arg,ENST00000417368,;AASS,missense_variant,p.Ile907Arg,ENST00000393376,;AASS,non_coding_transcript_exon_variant,,ENST00000473553,;AASS,3_prime_UTR_variant,,ENST00000358954,;AASS,3_prime_UTR_variant,,ENST00000431170,;AASS,non_coding_transcript_exon_variant,,ENST00000460376,;AASS,downstream_gene_variant,,ENST00000426162,;	2816	78	112	SUCCESS
AGBL3	340351	.	GRCh37	7	134719335	134719335	+	synonymous_variant	Silent	SNP	G	G	A	rs777950759	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	12	101	0	ENST00000436302.2:c.993G>A	p.Thr331=	p.T331=	ENST00000436302	NM_178563.3	331	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS47718.1	993	RADIA|MUTECT|MUSE|VARSCANS	.	CACACGCTTGC	NONE	.	.	hmmpanther:PTHR12756:SF6,hmmpanther:PTHR12756,Pfam_domain:PF00246,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000388275	.	7/17	.	.	.	.	.	.	.	.	rs777950759	7/17	PASS	ENST00000436302	Transcript	.	.	ENSG00000146856	27981	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CBPC3_HUMAN	AGBL3	HGNC	.	.	UPI000192952B	SNV	AGBL3,synonymous_variant,p.%3D,ENST00000458078,;AGBL3,synonymous_variant,p.%3D,ENST00000436302,;AGBL3,synonymous_variant,p.%3D,ENST00000435976,;AGBL3,synonymous_variant,p.%3D,ENST00000275763,;	1246	101	107	SUCCESS
GALNT11	63917	.	GRCh37	7	151791456	151791456	+	synonymous_variant	Silent	SNP	C	C	T	rs150180913	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	87	0	ENST00000430044.2:c.144C>T	p.His48=	p.H48=	ENST00000430044	NM_022087.2	48	caC/caT	0	T:0.0066	T:0.0113	.	T:0	.	T	H	protein_coding	YES	CCDS5930.1	144	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACGGACC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11675:SF10,hmmpanther:PTHR11675	T:0	T:0	ENSP00000416787	T:0	4/14	.	.	.	.	.	.	.	.	rs150180913,COSM3879484	4/14	common_in_exac	ENST00000434507	Transcript	.	T:0.0030	ENSG00000178234	19875	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	T:0	.	0,1	GLT11_HUMAN	GALNT11	HGNC	C9JMT8_HUMAN,C9J8A7_HUMAN,C9J111_HUMAN	.	UPI000004C2AA	SNV	GALNT11,synonymous_variant,p.%3D,ENST00000320311,;GALNT11,synonymous_variant,p.%3D,ENST00000434507,;GALNT11,synonymous_variant,p.%3D,ENST00000419245,;GALNT11,synonymous_variant,p.%3D,ENST00000415421,;GALNT11,synonymous_variant,p.%3D,ENST00000430044,;GALNT11,synonymous_variant,p.%3D,ENST00000423337,;GALNT11,synonymous_variant,p.%3D,ENST00000422997,;GALNT11,synonymous_variant,p.%3D,ENST00000446096,;GALNT11,synonymous_variant,p.%3D,ENST00000447796,;GALNT11,synonymous_variant,p.%3D,ENST00000431668,;GALNT11,intron_variant,,ENST00000452146,;GALNT11,non_coding_transcript_exon_variant,,ENST00000482812,;GALNT11,synonymous_variant,p.%3D,ENST00000447778,;	581	87	78	SUCCESS
UBE3C	9690	.	GRCh37	7	156974230	156974230	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	27	103	0	ENST00000348165.5:c.635A>G	p.Tyr212Cys	p.Y212C	ENST00000348165	NM_014671.2	212	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34789.1	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATATTTGT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85	.	.	ENSP00000309198	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000348165	Transcript	.	.	ENSG00000009335	16803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.05)	.	UBE3C_HUMAN	UBE3C	HGNC	.	.	UPI000020E72A	SNV	UBE3C,missense_variant,p.Tyr169Cys,ENST00000389103,;UBE3C,missense_variant,p.Tyr212Cys,ENST00000348165,;	995	103	174	SUCCESS
ELFN1	392617	.	GRCh37	7	1785074	1785074	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1053391649	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	54	0	ENST00000424383.2:c.842C>T	p.Pro281Leu	p.P281L	ENST00000424383		281	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS59046.1	842	MUTECT|MUSE	.	GCCTCCGCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF34	.	.	ENSP00000456548	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000424383	Transcript	.	.	ENSG00000225968	33154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.145)	.	tolerated(0.45)	.	ELFN1_HUMAN	ELFN1	HGNC	.	.	UPI0000251E11	SNV	ELFN1,missense_variant,p.Pro281Leu,ENST00000561626,;ELFN1,missense_variant,p.Pro281Leu,ENST00000424383,;ELFN1,missense_variant,p.Pro281Leu,ENST00000541472,;AC074389.9,upstream_gene_variant,,ENST00000415399,;AC074389.9,upstream_gene_variant,,ENST00000453348,;	1329	54	61	SUCCESS
LFNG	3955	.	GRCh37	7	2564346	2564346	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	406	13	314	0	ENST00000222725.5:c.450C>T	p.Asp150=	p.D150=	ENST00000222725	NM_001040167.1	150	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS34587.1	450	MUTECT|MUSE	.	ACTGACGGGGA	NONE	.	.	PIRSF_domain:PIRSF038073,Pfam_domain:PF02434,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF7	.	.	ENSP00000222725	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000222725	Transcript	.	.	ENSG00000106003	6560	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LFNG_HUMAN	LFNG	HGNC	.	.	UPI000012E5D5	SNV	LFNG,synonymous_variant,p.%3D,ENST00000402506,;LFNG,synonymous_variant,p.%3D,ENST00000402045,;LFNG,synonymous_variant,p.%3D,ENST00000222725,;LFNG,synonymous_variant,p.%3D,ENST00000338732,;LFNG,synonymous_variant,p.%3D,ENST00000359574,;MIR4648,upstream_gene_variant,,ENST00000580107,;LFNG,non_coding_transcript_exon_variant,,ENST00000493850,;	470	314	420	SUCCESS
ANLN	54443	.	GRCh37	7	36445824	36445824	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1260024809	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	69	0	ENST00000265748.2:c.522G>A	p.Met174Ile	p.M174I	ENST00000265748	NM_018685.2	174	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS5447.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATGCCATC	NONE	.	.	hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20	.	.	ENSP00000265748	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000265748	Transcript	.	.	ENSG00000011426	14082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	ANLN_HUMAN	ANLN	HGNC	C9JJT6_HUMAN	.	UPI00001A95DE	SNV	ANLN,missense_variant,p.Met174Ile,ENST00000396068,;ANLN,missense_variant,p.Met152Ile,ENST00000424865,;ANLN,missense_variant,p.Met174Ile,ENST00000265748,;ANLN,upstream_gene_variant,,ENST00000428612,;ANLN,non_coding_transcript_exon_variant,,ENST00000460598,;ANLN,upstream_gene_variant,,ENST00000495714,;ANLN,upstream_gene_variant,,ENST00000441696,;ANLN,upstream_gene_variant,,ENST00000429082,;ANLN,upstream_gene_variant,,ENST00000452877,;	743	69	97	SUCCESS
RSPH10B	222967	.	GRCh37	7	5983565	5983565	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751292201	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	32	280	0	ENST00000337579.3:c.1586G>A	p.Arg529His	p.R529H	ENST00000337579		529	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34598.1	1586	RADIA|MUTECT|VARSCANS	.	TTGGACGAATG	NONE	byFrequency	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF131	.	.	ENSP00000385443	.	13/20	.	.	.	.	.	.	.	.	rs751292201	13/20	PASS	ENST00000405415	Transcript	.	.	ENSG00000155026	27362	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.47)	.	R10B1_HUMAN	RSPH10B	HGNC	C9JJN2_HUMAN	.	UPI000020EAA5	SNV	RSPH10B,missense_variant,p.Arg529His,ENST00000441023,;RSPH10B,missense_variant,p.Arg529His,ENST00000337579,;RSPH10B,missense_variant,p.Arg529His,ENST00000404406,;RSPH10B,missense_variant,p.Arg529His,ENST00000405415,;RSPH10B,intron_variant,,ENST00000539903,;RSPH10B,intron_variant,,ENST00000535104,;	1973	280	266	SUCCESS
PMS2	5395	.	GRCh37	7	6029572	6029572	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	59	122	0	ENST00000265849.7:c.1003A>G	p.Asn335Asp	p.N335D	ENST00000265849	NM_000535.5	335	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS5343.1	1003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATTGATAT	NONE	.	.	Superfamily_domains:SSF54211,Gene3D:3.30.230.10,Pfam_domain:PF01119,TIGRFAM_domain:TIGR00585,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9	.	.	ENSP00000265849	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000265849	Transcript	.	.	ENSG00000122512	9122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	PMS2_HUMAN	PMS2	HGNC	.	.	UPI000013D696	SNV	PMS2,missense_variant,p.Asn335Asp,ENST00000265849,;PMS2,missense_variant,p.Asn229Asp,ENST00000441476,;PMS2,missense_variant,p.Asn335Asp,ENST00000406569,;PMS2,intron_variant,,ENST00000382321,;PMS2,intron_variant,,ENST00000469652,;	1109	123	160	SUCCESS
ZNF273	10793	.	GRCh37	7	64363699	64363699	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	36	0	ENST00000476120.1:c.4T>C	p.Ser2Pro	p.S2P	ENST00000476120	NM_021148.2	2	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS5528.2	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGTCCTCT	NONE	.	.	.	.	.	ENSP00000418719	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000476120	Transcript	.	.	ENSG00000198039	13067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	tolerated_low_confidence(0.07)	.	ZN273_HUMAN	ZNF273	HGNC	.	.	UPI0000DACAC5	SNV	ZNF273,missense_variant,p.Ser2Pro,ENST00000476120,;ZNF273,5_prime_UTR_variant,,ENST00000545510,;ZNF273,5_prime_UTR_variant,,ENST00000319636,;ZNF273,non_coding_transcript_exon_variant,,ENST00000489672,;ZNF273,intron_variant,,ENST00000527278,;ZNF273,missense_variant,p.Ser2Pro,ENST00000395375,;	75	36	51	SUCCESS
RSPH10B2	728194	.	GRCh37	7	6820496	6820496	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs550194618	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	260	32	226	0	ENST00000297186.3:c.1586G>A	p.Arg529His	p.R529H	ENST00000297186		529	cGt/cAt	0	.	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS43552.1	1586	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGTCCAA	NONE	by1000G	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF131	A:0	.	ENSP00000384766	A:0	13/20	.	.	.	.	.	.	.	.	rs550194618	13/20	PASS	ENST00000403107	Transcript	.	A:0.0002	ENSG00000169402	34385	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	A:0	tolerated(0.46)	.	R10B2_HUMAN	RSPH10B2	HGNC	C9JJN2_HUMAN	.	UPI000020EAF6	SNV	RSPH10B2,missense_variant,p.Arg529His,ENST00000404077,;RSPH10B2,missense_variant,p.Arg529His,ENST00000403107,;RSPH10B2,missense_variant,p.Arg529His,ENST00000297186,;RSPH10B2,missense_variant,p.Arg529His,ENST00000433859,;RSPH10B2,intron_variant,,ENST00000359718,;RSPH10B2,intron_variant,,ENST00000463354,;RSPH10B2,downstream_gene_variant,,ENST00000485129,;RSPH10B2,intron_variant,,ENST00000485920,;	1973	226	293	SUCCESS
MDH2	4191	.	GRCh37	7	75695659	75695659	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	28	141	2	ENST00000315758.5:c.948C>G	p.Ile316Met	p.I316M	ENST00000315758	NM_005918.2	316	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS5581.1	948	RADIA|SOMATICSNIPER|VARSCANS	.	ATGATCTCGGA	NONE	.	.	hmmpanther:PTHR11540:SF16,hmmpanther:PTHR11540,Pfam_domain:PF02866,TIGRFAM_domain:TIGR01772,Gene3D:3.90.110.10,PIRSF_domain:PIRSF000102,Superfamily_domains:SSF56327	.	.	ENSP00000327070	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000315758	Transcript	.	.	ENSG00000146701	6971	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.25)	.	deleterious(0.01)	.	MDHM_HUMAN	MDH2	HGNC	Q75MT9_HUMAN,Q0QF37_HUMAN,G3XAL0_HUMAN	.	UPI000013DA68	SNV	MDH2,missense_variant,p.Ile316Met,ENST00000315758,;MDH2,missense_variant,p.Ile274Met,ENST00000432020,;MDH2,missense_variant,p.Ile209Met,ENST00000443006,;MDH2,downstream_gene_variant,,ENST00000424167,;	1042	143	168	SUCCESS
CCDC146	57639	.	GRCh37	7	76871032	76871032	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	67	247	1	ENST00000285871.4:c.264G>T	p.Leu88=	p.L88=	ENST00000285871	NM_020879.2	88	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34671.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGCTACA	NONE	.	.	hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	.	.	ENSP00000285871	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000285871	Transcript	.	.	ENSG00000135205	29296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC146_HUMAN	CCDC146	HGNC	Q7Z4Q3_HUMAN	.	UPI000020F44F	SNV	CCDC146,synonymous_variant,p.%3D,ENST00000415750,;CCDC146,synonymous_variant,p.%3D,ENST00000285871,;CCDC146,5_prime_UTR_variant,,ENST00000431197,;AC073635.5,downstream_gene_variant,,ENST00000476561,;CCDC146,upstream_gene_variant,,ENST00000461882,;	391	248	317	SUCCESS
NPTX2	4885	.	GRCh37	7	98254264	98254264	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	46	0	ENST00000265634.3:c.674T>C	p.Phe225Ser	p.F225S	ENST00000265634	NM_002523.2	225	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS5657.1	674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGTTCAAGG	NONE	.	.	hmmpanther:PTHR19277:SF1,hmmpanther:PTHR19277,Gene3D:2.60.120.200,SMART_domains:SM00159	.	.	ENSP00000265634	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000265634	Transcript	.	.	ENSG00000106236	7953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	NPTX2_HUMAN	NPTX2	HGNC	.	.	UPI000013040F	SNV	NPTX2,missense_variant,p.Phe225Ser,ENST00000265634,;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	839	46	69	SUCCESS
ZNF16	7564	.	GRCh37	8	146156959	146156959	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	42	133	0	ENST00000276816.4:c.1214A>G	p.Tyr405Cys	p.Y405C	ENST00000276816	NM_001029976.2	405	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6437.1	1214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCATAAGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF269,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000276816	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000276816	Transcript	.	.	ENSG00000170631	12947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZNF16_HUMAN	ZNF16	HGNC	Q8ND22_HUMAN,E9PQV1_HUMAN,E9PNT9_HUMAN	.	UPI00001E058F	SNV	ZNF16,missense_variant,p.Tyr405Cys,ENST00000276816,;ZNF16,missense_variant,p.Tyr405Cys,ENST00000394909,;ZNF16,downstream_gene_variant,,ENST00000532351,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,downstream_gene_variant,,ENST00000527512,;ZNF16,downstream_gene_variant,,ENST00000532811,;	1401	133	165	SUCCESS
PCM1	5108	.	GRCh37	8	17823507	17823507	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	116	0	ENST00000325083.8:c.2856-1G>T		p.X952_splice	ENST00000325083	NM_006197.3	952		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47812.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGGTGGA	NONE	.	.	.	.	.	ENSP00000327077	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325083	Transcript	1	.	ENSG00000078674	8727	.	.	HIGH	18/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCM1_HUMAN	PCM1	HGNC	E5RGQ4_HUMAN	.	UPI0000210A25	SNV	PCM1,splice_acceptor_variant,,ENST00000524226,;PCM1,splice_acceptor_variant,,ENST00000519253,;PCM1,splice_acceptor_variant,,ENST00000325083,;PCM1,downstream_gene_variant,,ENST00000518762,;PCM1,splice_acceptor_variant,,ENST00000524356,;PCM1,downstream_gene_variant,,ENST00000517836,;PCM1,upstream_gene_variant,,ENST00000523540,;	.	116	83	SUCCESS
WRN	7486	.	GRCh37	8	31004928	31004928	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	35	221	0	ENST00000298139.5:c.3508A>G	p.Lys1170Glu	p.K1170E	ENST00000298139	NM_000553.4	1170	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6082.1	3508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATAAAATG	NONE	.	.	Superfamily_domains:SSF47819,SMART_domains:SM00341,Gene3D:1.10.150.80,Pfam_domain:PF00570,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF80,PROSITE_profiles:PS50967	.	.	ENSP00000298139	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000298139	Transcript	1	.	ENSG00000165392	12791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	WRN_HUMAN	WRN	HGNC	.	.	UPI000013E49D	SNV	WRN,missense_variant,p.Lys1170Glu,ENST00000298139,;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	3757	221	125	SUCCESS
C8orf86	389649	.	GRCh37	8	38386128	38386128	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	34	0	ENST00000358138.1:c.28C>T	p.Pro10Ser	p.P10S	ENST00000358138	NM_207412.1	10	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6108.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGAGGA	NONE	.	.	.	.	.	ENSP00000350856	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000358138	Transcript	.	.	ENSG00000196166	33774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	tolerated_low_confidence(0.08)	.	CH086_HUMAN	C8orf86	HGNC	.	.	UPI00001C0B34	SNV	C8orf86,missense_variant,p.Pro10Ser,ENST00000437935,;C8orf86,missense_variant,p.Pro10Ser,ENST00000358138,;	53	34	40	SUCCESS
PRKDC	5591	.	GRCh37	8	48767935	48767935	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	77	0	ENST00000314191.2:c.6607-1G>A		p.X2203_splice	ENST00000314191	NM_006904.6	2203		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCTGAAA	NONE	.	.	.	.	.	ENSP00000313420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	50/86	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,splice_acceptor_variant,,ENST00000338368,;PRKDC,splice_acceptor_variant,,ENST00000314191,;PRKDC,splice_acceptor_variant,,ENST00000518216,;PRKDC,splice_acceptor_variant,,ENST00000523565,;	.	77	53	SUCCESS
C8orf34	116328	.	GRCh37	8	69358840	69358840	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	35	0	ENST00000518698.1:c.607+145T>A		p.*203*	ENST00000518698	NM_052958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6203.2	.	MUTECT|MUSE	.	CCGCATTTACA	NONE	.	.	.	.	.	ENSP00000427820	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000518698	Transcript	.	.	ENSG00000165084	30905	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CH034_HUMAN	C8orf34	HGNC	.	.	UPI000021D12D	SNV	C8orf34,3_prime_UTR_variant,,ENST00000523686,;C8orf34,intron_variant,,ENST00000539993,;C8orf34,intron_variant,,ENST00000337103,;C8orf34,intron_variant,,ENST00000348340,;C8orf34,intron_variant,,ENST00000518698,;C8orf34,intron_variant,,ENST00000349492,;C8orf34,intron_variant,,ENST00000521406,;	.	35	46	SUCCESS
RBM12B	389677	.	GRCh37	8	94748356	94748356	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756795147	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	8	94	0	ENST00000399300.2:c.283C>T	p.Arg95Cys	p.R95C	ENST00000399300	NM_203390.2	95	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS43755.1	283	MUTECT|MUSE	.	TGGACGCCCTC	NONE	byFrequency	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28	.	.	ENSP00000382239	.	3/3	.	.	.	.	.	.	.	.	rs756795147	3/3	PASS	ENST00000399300	Transcript	.	.	ENSG00000183808	32310	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	RB12B_HUMAN	RBM12B	HGNC	E5RJW8_HUMAN,E5RJV8_HUMAN,E5RJ83_HUMAN,E5RHG1_HUMAN	.	UPI0000E9B14C	SNV	RBM12B,missense_variant,p.Arg95Cys,ENST00000519109,;RBM12B,missense_variant,p.Arg95Cys,ENST00000399300,;RBM12B,missense_variant,p.Arg95Cys,ENST00000517700,;RBM12B,missense_variant,p.Arg95Cys,ENST00000518597,;RBM12B,missense_variant,p.Arg95Cys,ENST00000520560,;FAM92A1,downstream_gene_variant,,ENST00000518322,;RBM12B-AS1,upstream_gene_variant,,ENST00000391680,;RBM12B,downstream_gene_variant,,ENST00000521947,;RP11-10N23.4,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,;	497	94	144	SUCCESS
DNAJC25	548645	.	GRCh37	9	114411923	114411923	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	72	175	0	ENST00000313525.3:c.680A>C	p.Lys227Thr	p.K227T	ENST00000313525	NM_001015882.2	227	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS43862.1	680	RADIA|MUTECT|MUSE	.	TATAAAAAGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF125	.	.	ENSP00000320650	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000313525	Transcript	.	.	ENSG00000059769	34187	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.96)	.	tolerated(0.06)	.	DJC25_HUMAN	DNAJC25	HGNC	.	.	UPI000006F186	SNV	DNAJC25,missense_variant,p.Lys227Thr,ENST00000313525,;DNAJC25-GNG10,intron_variant,,ENST00000374294,;DNAJC25,intron_variant,,ENST00000556107,;DNAJC25,3_prime_UTR_variant,,ENST00000463589,;DNAJC25,3_prime_UTR_variant,,ENST00000447096,;	736	175	159	SUCCESS
SLC46A2	57864	.	GRCh37	9	115652456	115652456	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755312485	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	7	128	0	ENST00000374228.4:c.506G>A	p.Arg169His	p.R169H	ENST00000374228	NM_033051.3	169	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS6786.1	506	MUTECT|MUSE	.	CAGAGCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF41,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000363345	.	1/4	.	.	.	.	.	.	.	.	rs755312485	1/4	PASS	ENST00000374228	Transcript	.	.	ENSG00000119457	16055	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TSCOT_HUMAN	SLC46A2	HGNC	.	.	UPI0000049F9E	SNV	SLC46A2,missense_variant,p.Arg169His,ENST00000374228,;RP11-408O19.5,downstream_gene_variant,,ENST00000605480,;SLC46A2,missense_variant,p.Arg169His,ENST00000491462,;	738	128	111	SUCCESS
CERCAM	51148	.	GRCh37	9	131186523	131186523	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760663247	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	91	0	ENST00000372838.4:c.533C>A	p.Ser178Tyr	p.S178Y	ENST00000372838	NM_016174.4	178	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS6901.2	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTCCAACT	NONE	.	.	Superfamily_domains:SSF53448,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF9	.	.	ENSP00000361929	.	4/13	.	.	.	.	.	.	.	.	rs760663247	4/13	PASS	ENST00000372838	Transcript	.	.	ENSG00000167123	23723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GT253_HUMAN	CERCAM	HGNC	B7ZBT0_HUMAN,B7ZBS9_HUMAN,B7ZBS8_HUMAN	.	UPI000046FF85	SNV	CERCAM,missense_variant,p.Ser100Tyr,ENST00000372842,;CERCAM,missense_variant,p.Ser100Tyr,ENST00000447915,;CERCAM,missense_variant,p.Ser178Tyr,ENST00000372838,;CERCAM,missense_variant,p.Ser100Tyr,ENST00000420512,;CERCAM,downstream_gene_variant,,ENST00000411852,;CERCAM,downstream_gene_variant,,ENST00000420034,;CERCAM,non_coding_transcript_exon_variant,,ENST00000483893,;CERCAM,upstream_gene_variant,,ENST00000487001,;CERCAM,downstream_gene_variant,,ENST00000493788,;CERCAM,non_coding_transcript_exon_variant,,ENST00000463535,;CERCAM,non_coding_transcript_exon_variant,,ENST00000483737,;	931	91	82	SUCCESS
FAM73B	0	.	GRCh37	9	131832663	131832663	+	synonymous_variant	Silent	SNP	C	C	T	rs375061896	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	10	143	0	ENST00000358369.4:c.1713C>T	p.Pro571=	p.P571=	ENST00000358369	NM_032809.2	571	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6917.1	1713	MUTECT|MUSE|VARSCANS	.	GTGCCCGCGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21508,hmmpanther:PTHR21508:SF2	.	.	ENSP00000351138	.	16/16	.	.	.	.	.	.	.	.	rs375061896	16/16	PASS	ENST00000358369	Transcript	.	.	ENSG00000148343	23621	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA73B_HUMAN	FAM73B	HGNC	B0QZG3_HUMAN	.	UPI00001B4EFD	SNV	FAM73B,synonymous_variant,p.%3D,ENST00000358369,;FAM73B,3_prime_UTR_variant,,ENST00000277475,;FAM73B,3_prime_UTR_variant,,ENST00000406926,;FAM73B,downstream_gene_variant,,ENST00000495975,;FAM73B,downstream_gene_variant,,ENST00000474639,;FAM73B,3_prime_UTR_variant,,ENST00000445183,;FAM73B,3_prime_UTR_variant,,ENST00000439290,;FAM73B,non_coding_transcript_exon_variant,,ENST00000483458,;FAM73B,downstream_gene_variant,,ENST00000492279,;FAM73B,downstream_gene_variant,,ENST00000471943,;FAM73B,downstream_gene_variant,,ENST00000414342,;	1939	143	121	SUCCESS
ABL1	25	.	GRCh37	9	133755543	133755543	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs145352772	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	66	128	1	ENST00000318560.5:c.1512C>T		p.X504_splice	ENST00000318560	NM_005157.4	504	gaC/gaT	0	T:0.003	T:0.003	.	T:0	.	T	D	protein_coding	YES	CCDS35165.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACGGTAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	T:0.001	T:0.0003	ENSP00000361423	T:0.001	9/11	.	.	.	.	.	.	.	.	rs145352772	9/11	common_in_exac	ENST00000372348	Transcript	.	T:0.0012	ENSG00000097007	76	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ABL1_HUMAN	ABL1	HGNC	Q59FK4_HUMAN	.	UPI000013E4DE	SNV	ABL1,synonymous_variant,p.%3D,ENST00000318560,;ABL1,synonymous_variant,p.%3D,ENST00000372348,;	1943	129	120	SUCCESS
NOTCH1	4851	.	GRCh37	9	139395186	139395186	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	50	0	ENST00000277541.6:c.5752G>A	p.Ala1918Thr	p.A1918T	ENST00000277541	NM_017617.3	1918	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43905.1	5752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGCCCT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24033:SF37,hmmpanther:PTHR24033,Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF002279,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000277541	.	31/34	.	.	.	.	.	.	.	.	COSM1106864,COSM1106862	31/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.622)	.	deleterious(0)	1,1	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	SNV	NOTCH1,missense_variant,p.Ala1918Thr,ENST00000277541,;NOTCH1,downstream_gene_variant,,ENST00000494783,;	5828	50	64	SUCCESS
CNTLN	54875	.	GRCh37	9	17394652	17394652	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	16	262	0	ENST00000380647.3:c.2200G>C	p.Glu734Gln	p.E734Q	ENST00000380647		734	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS43789.1	2200	MUTECT|MUSE	.	AACAAGAAGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Glu734Gln,ENST00000425824,;CNTLN,missense_variant,p.Glu734Gln,ENST00000262360,;CNTLN,missense_variant,p.Glu734Gln,ENST00000380647,;	2284	262	243	SUCCESS
TLN1	7094	.	GRCh37	9	35717322	35717322	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	55	0	ENST00000314888.9:c.2279A>T	p.Asp760Val	p.D760V	ENST00000314888	NM_006289.3	760	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS35009.1	2279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCATCCTCT	NONE	.	.	Superfamily_domains:SSF109885,Superfamily_domains:SSF109885,Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	19/57	.	.	.	.	.	.	.	.	.	19/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Asp760Val,ENST00000314888,;TLN1,missense_variant,p.Asp760Val,ENST00000540444,;	2633	55	43	SUCCESS
FAM221B	392307	.	GRCh37	9	35819298	35819298	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	16	104	0	ENST00000423537.2:c.947A>C	p.Lys316Thr	p.K316T	ENST00000423537	NM_001012446.3	316	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS43799.2	947	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTTGAGC	NONE	.	.	hmmpanther:PTHR31214:SF3,hmmpanther:PTHR31214	.	.	ENSP00000415299	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000423537	Transcript	.	.	ENSG00000204930	30762	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.039)	.	tolerated(0.26)	.	F221B_HUMAN	FAM221B	HGNC	F8W8N9_HUMAN,C9JPK8_HUMAN	.	UPI0000E0BBB1	SNV	FAM221B,missense_variant,p.Lys316Thr,ENST00000423537,;TMEM8B,intron_variant,,ENST00000377996,;FAM221B,downstream_gene_variant,,ENST00000377984,;HINT2,upstream_gene_variant,,ENST00000259667,;HINT2,upstream_gene_variant,,ENST00000474848,;HINT2,upstream_gene_variant,,ENST00000474908,;HINT2,upstream_gene_variant,,ENST00000472085,;HINT2,upstream_gene_variant,,ENST00000461169,;FAM221B,3_prime_UTR_variant,,ENST00000388950,;	1217	104	112	SUCCESS
PDCD1LG2	80380	.	GRCh37	9	5535017	5535017	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	33	0	ENST00000397747.3:c.328T>A	p.Trp110Arg	p.W110R	ENST00000397747	NM_025239.3	110	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS6465.1	328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCTGGGAC	NONE	.	.	hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF56,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000380855	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000397747	Transcript	.	.	ENSG00000197646	18731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	PD1L2_HUMAN	PDCD1LG2	HGNC	.	.	UPI0000050EF2	SNV	PDCD1LG2,missense_variant,p.Trp110Arg,ENST00000397747,;PDCD1LG2,missense_variant,p.Trp110Arg,ENST00000397745,;	576	33	26	SUCCESS
GKAP1	80318	.	GRCh37	9	86421241	86421241	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	36	0	ENST00000376371.2:c.192A>G	p.Glu64=	p.E64=	ENST00000376371	NM_025211.3	64	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS35049.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTTCCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14899,Prints_domain:PR02083	.	.	ENSP00000365550	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000376371	Transcript	.	.	ENSG00000165113	17496	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GKAP1_HUMAN	GKAP1	HGNC	C9J9D2_HUMAN	.	UPI000007224D	SNV	GKAP1,synonymous_variant,p.%3D,ENST00000376365,;GKAP1,synonymous_variant,p.%3D,ENST00000376371,;GKAP1,downstream_gene_variant,,ENST00000485742,;GKAP1,synonymous_variant,p.%3D,ENST00000388782,;	593	36	34	SUCCESS
ROR2	4920	.	GRCh37	9	94486330	94486330	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	38	0	ENST00000375708.3:c.2446C>T	p.Gln816Ter	p.Q816*	ENST00000375708	NM_004560.3	816	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6691.1	2446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGCGGCG	NONE	.	.	PIRSF_domain:PIRSF000624,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416	.	.	ENSP00000364860	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,stop_gained,p.Gln816Ter,ENST00000375708,;ROR2,intron_variant,,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	2645	38	30	SUCCESS
LDOC1	23641	.	GRCh37	X	140271004	140271004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	59	0	ENST00000370526.2:c.203T>C	p.Ile68Thr	p.I68T	ENST00000370526	NM_012317.2	68	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS14672.1	203	RADIA|MUTECT|MUSE|VARSCANS	.	GCACGATAAAC	NONE	.	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF3	.	.	ENSP00000359557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370526	Transcript	.	.	ENSG00000182195	6548	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.885)	.	deleterious(0)	.	LDOC1_HUMAN	LDOC1	HGNC	.	.	UPI00000373D3	SNV	LDOC1,missense_variant,p.Ile68Thr,ENST00000370526,;RP3-507I15.2,upstream_gene_variant,,ENST00000566241,;LDOC1,intron_variant,,ENST00000460721,;	307	60	81	SUCCESS
BEND2	139105	.	GRCh37	X	18189191	18189191	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	7	95	0	ENST00000380033.4:c.2115A>G	p.Gln705=	p.Q705=	ENST00000380033	NM_153346.4	705	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS14184.1	2115	MUTECT|MUSE|VARSCANS	.	TTACTTTGGAC	NONE	.	.	PROSITE_profiles:PS51457,hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF44,Pfam_domain:PF10523,SMART_domains:SM01025	.	.	ENSP00000369372	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000380033	Transcript	.	.	ENSG00000177324	28509	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BEND2_HUMAN	BEND2	HGNC	.	.	UPI000013FE0F	SNV	BEND2,synonymous_variant,p.%3D,ENST00000380030,;BEND2,synonymous_variant,p.%3D,ENST00000380033,;	2248	95	85	SUCCESS
EIF1AX	1964	.	GRCh37	X	20154184	20154184	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	11	19	0	ENST00000379607.5:c.101-225A>C		p.*34*	ENST00000379607	NM_001412.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14196.1	.	MUTECT|MUSE	.	TTTTCTGAGCT	NONE	.	.	.	.	.	ENSP00000368927	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379607	Transcript	.	.	ENSG00000173674	3250	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IF1AX_HUMAN	EIF1AX	HGNC	.	.	UPI00000041DF	SNV	EIF1AX,intron_variant,,ENST00000379607,;EIF1AX,intron_variant,,ENST00000379593,;snoU2-30,non_coding_transcript_exon_variant,,ENST00000365012,;snoU2_19,downstream_gene_variant,,ENST00000364722,;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,;	.	19	13	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20187519	20187519	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	60	0	ENST00000379565.3:c.1443+1G>A		p.X481_splice	ENST00000379565	NM_004586.2	481		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14197.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACATCCT	NONE	.	.	.	.	.	ENSP00000368884	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	16/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,splice_donor_variant,,ENST00000379548,;RPS6KA3,splice_donor_variant,,ENST00000379565,;RPS6KA3,splice_donor_variant,,ENST00000540702,;RPS6KA3,splice_donor_variant,,ENST00000544447,;RPS6KA3,splice_donor_variant,,ENST00000479809,;	.	60	35	SUCCESS
EFHC2	80258	.	GRCh37	X	44035625	44035625	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	31	57	0	ENST00000420999.1:c.1955del	p.Asn652MetfsTer19	p.N652Mfs*19	ENST00000420999	NM_025184.3	652	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS55405.1	1955	INDELOCATOR*|VARSCANI*|PINDEL	.	AATACATTTTTT	NONE	.	.	hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000404232	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000420999	Transcript	.	.	ENSG00000183690	26233	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFHC2_HUMAN	EFHC2	HGNC	.	.	UPI00000717F2	deletion	EFHC2,frameshift_variant,p.Asn652MetfsTer19,ENST00000420999,;EFHC2,non_coding_transcript_exon_variant,,ENST00000343571,;	2039	57	128	SUCCESS
STARD8	9754	.	GRCh37	X	67937418	67937418	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	55	0	ENST00000252336.6:c.422A>G	p.Lys141Arg	p.K141R	ENST00000252336	NM_014725.4	141	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS48134.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAAGAGTG	NONE	.	.	hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3	.	.	ENSP00000363727	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000374599	Transcript	.	.	ENSG00000130052	19161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.1)	.	STAR8_HUMAN	STARD8	HGNC	.	.	UPI00002122B9	SNV	STARD8,missense_variant,p.Lys141Arg,ENST00000252336,;STARD8,missense_variant,p.Lys141Arg,ENST00000374597,;STARD8,missense_variant,p.Lys221Arg,ENST00000374599,;STARD8,3_prime_UTR_variant,,ENST00000523864,;	777	56	60	SUCCESS
FAM155B	27112	.	GRCh37	X	68748901	68748901	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	109	119	1	ENST00000252338.4:c.927G>T	p.Trp309Cys	p.W309C	ENST00000252338	NM_015686.2	309	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS35317.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGGTGCC	NONE	.	.	hmmpanther:PTHR15819:SF6,hmmpanther:PTHR15819	.	.	ENSP00000252338	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000252338	Transcript	.	.	ENSG00000130054	30701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	F155B_HUMAN	FAM155B	HGNC	.	.	UPI0000070EAA	SNV	FAM155B,missense_variant,p.Trp309Cys,ENST00000252338,;	969	120	125	SUCCESS
ACRC	0	.	GRCh37	X	70811974	70811974	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs36115715	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	240	22	221	0	ENST00000373695.1:c.62A>G	p.Tyr21Cys	p.Y21C	ENST00000373695		21	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS35326.1	62	MUTECT|MUSE	.	CAGTTACATCC	NONE	byFrequency|suspect|byCluster	.	.	.	.	ENSP00000362799	.	2/12	.	.	.	.	.	.	.	.	rs36115715	2/12	PASS	ENST00000373695	Transcript	.	.	ENSG00000147174	15805	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.926)	.	.	.	ACRC_HUMAN	ACRC	HGNC	.	.	UPI0000072023	SNV	ACRC,missense_variant,p.Tyr21Cys,ENST00000373695,;ACRC,missense_variant,p.Tyr21Cys,ENST00000373696,;	599	221	262	SUCCESS
KIAA2022	0	.	GRCh37	X	73963968	73963968	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	6	65	0	ENST00000055682.6:c.424C>T	p.Pro142Ser	p.P142S	ENST00000055682	NM_001008537.2	142	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS35337.1	424	MUTECT|MUSE	.	ACTTGGCTGCA	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,missense_variant,p.Pro142Ser,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	1036	65	119	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83372406	83372406	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	12	188	1	ENST00000262752.2:c.846G>A	p.Met282Ile	p.M282I	ENST00000262752	NM_014496.4	282	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS14451.1	846	MUTECT|MUSE	.	ATATTCATGGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000262752	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.753)	.	tolerated(0.05)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.Met282Ile,ENST00000262752,;RPS6KA6,missense_variant,p.Met282Ile,ENST00000543399,;	854	189	208	SUCCESS
PCDH11X	27328	.	GRCh37	X	91132817	91132817	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	17	181	0	ENST00000373094.1:c.1578G>T	p.Lys526Asn	p.K526N	ENST00000373094	NM_032968.3	526	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS14461.1	1578	MUTECT|MUSE|VARSCANS	.	GTGAAGAAACT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.082)	.	tolerated(0.38)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Lys526Asn,ENST00000373088,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000361724,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000395337,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000298274,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000504220,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000406881,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000373094,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000373097,;PCDH11X,missense_variant,p.Lys526Asn,ENST00000361655,;	2423	181	194	SUCCESS
PCDH11X	27328	.	GRCh37	X	91133013	91133013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	66	208	1	ENST00000373094.1:c.1774A>G	p.Ile592Val	p.I592V	ENST00000373094	NM_032968.3	592	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS14461.1	1774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAATCACT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.669)	.	tolerated(0.9)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Ile592Val,ENST00000373088,;PCDH11X,missense_variant,p.Ile592Val,ENST00000361724,;PCDH11X,missense_variant,p.Ile592Val,ENST00000395337,;PCDH11X,missense_variant,p.Ile592Val,ENST00000298274,;PCDH11X,missense_variant,p.Ile592Val,ENST00000504220,;PCDH11X,missense_variant,p.Ile592Val,ENST00000406881,;PCDH11X,missense_variant,p.Ile592Val,ENST00000373094,;PCDH11X,missense_variant,p.Ile592Val,ENST00000373097,;PCDH11X,missense_variant,p.Ile592Val,ENST00000361655,;	2619	209	217	SUCCESS
SLK	9748	.	GRCh37	10	105762701	105762701	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	32	101	0	ENST00000369755.3:c.1765A>T	p.Met589Leu	p.M589L	ENST00000369755	NM_014720.2	589	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS7553.1	1765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCATGGTG	NONE	.	.	hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361	.	.	ENSP00000358770	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000369755	Transcript	.	.	ENSG00000065613	11088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.13)	.	SLK_HUMAN	SLK	HGNC	.	.	UPI000004B6D3	SNV	SLK,missense_variant,p.Met589Leu,ENST00000369755,;SLK,missense_variant,p.Met589Leu,ENST00000335753,;	2310	101	47	SUCCESS
ZNF248	57209	.	GRCh37	10	38121875	38121875	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	56	195	0	ENST00000357328.4:c.408del	p.Tyr137IlefsTer9	p.Y137Ifs*9	ENST00000357328	NM_001267597.1	136	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7194.1	408	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTATAGGGATA	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68	.	.	ENSP00000379208	.	6/6	.	.	.	.	.	.	.	.	COSM3437678	6/6	PASS	ENST00000395867	Transcript	.	.	ENSG00000198105	13041	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ZN248_HUMAN	ZNF248	HGNC	Q9UMP4_HUMAN,B4DF82_HUMAN,B1AL42_HUMAN,B1AL40_HUMAN,A2RUI7_HUMAN	.	UPI000006CF12	deletion	ZNF248,frameshift_variant,p.Tyr137IlefsTer9,ENST00000357328,;ZNF248,frameshift_variant,p.Tyr137IlefsTer9,ENST00000395867,;ZNF248,intron_variant,,ENST00000374648,;ZNF248,downstream_gene_variant,,ENST00000395873,;ZNF248,downstream_gene_variant,,ENST00000395874,;AL135791.1,downstream_gene_variant,,ENST00000583461,;ZNF248,intron_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,;	959	195	204	SUCCESS
RASSF4	83937	.	GRCh37	10	45480272	45480272	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	125	0	ENST00000340258.5:c.385G>A	p.Glu129Lys	p.E129K	ENST00000340258	NM_032023.3	129	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7208.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGAGGCA	NONE	.	.	hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF4	.	.	ENSP00000339692	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000340258	Transcript	.	.	ENSG00000107551	20793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.1)	.	RASF4_HUMAN	RASSF4	HGNC	.	.	UPI000006F93A	SNV	RASSF4,missense_variant,p.Glu138Lys,ENST00000334940,;RASSF4,missense_variant,p.Gly98Glu,ENST00000374417,;RASSF4,missense_variant,p.Glu129Lys,ENST00000340258,;RASSF4,downstream_gene_variant,,ENST00000427758,;RASSF4,downstream_gene_variant,,ENST00000428466,;RASSF4,upstream_gene_variant,,ENST00000484477,;RASSF4,non_coding_transcript_exon_variant,,ENST00000472561,;RASSF4,downstream_gene_variant,,ENST00000462822,;RASSF4,upstream_gene_variant,,ENST00000471808,;RASSF4,3_prime_UTR_variant,,ENST00000483709,;RASSF4,non_coding_transcript_exon_variant,,ENST00000465735,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471941,;RASSF4,non_coding_transcript_exon_variant,,ENST00000489171,;	498	125	61	SUCCESS
AKR1C1	1645	.	GRCh37	10	5005646	5005646	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	129	0	ENST00000380872.4:c.10A>G	p.Lys4Glu	p.K4E	ENST00000380872	NM_001353.5	4	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7061.1	10	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCGAAATAT	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201,PIRSF_domain:PIRSF000097	.	.	ENSP00000370254	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000380872	Transcript	.	.	ENSG00000187134	384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0.04)	.	AK1C1_HUMAN	AKR1C1	HGNC	.	.	UPI0000125760	SNV	AKR1C1,missense_variant,p.Lys3Glu,ENST00000442997,;AKR1C1,missense_variant,p.Lys4Glu,ENST00000434459,;AKR1C1,missense_variant,p.Lys4Glu,ENST00000380872,;AKR1C1,upstream_gene_variant,,ENST00000380859,;U8,upstream_gene_variant,,ENST00000459095,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000477661,;AKR1C1,upstream_gene_variant,,ENST00000476100,;	202	129	84	SUCCESS
FAM13C	220965	.	GRCh37	10	61011121	61011121	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	10	21	0	ENST00000373868.2:c.1634+214T>G		p.*545*	ENST00000373868	NM_198215.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7255.1	.	RADIA|MUTECT|MUSE	.	TACAGATTGAT	NONE	.	.	.	.	.	ENSP00000362975	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,3_prime_UTR_variant,,ENST00000435852,;FAM13C,intron_variant,,ENST00000419214,;FAM13C,intron_variant,,ENST00000468840,;FAM13C,intron_variant,,ENST00000373868,;FAM13C,intron_variant,,ENST00000277705,;FAM13C,intron_variant,,ENST00000442566,;FAM13C,intron_variant,,ENST00000373867,;FAM13C,downstream_gene_variant,,ENST00000422313,;PHYHIPL,downstream_gene_variant,,ENST00000373878,;PHYHIPL,downstream_gene_variant,,ENST00000373880,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,intron_variant,,ENST00000513059,;	.	21	11	SUCCESS
C10orf40	0	.	GRCh37	10	61718217	61718217	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	6	199	0	ENST00000521074.1:c.213T>G	p.Cys71Trp	p.C71W	ENST00000521074		71	tgT/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	.	213	MUTECT|MUSE	.	GGTTGACAGAT	NONE	.	.	.	.	.	ENSP00000430990	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000521074	Transcript	.	.	ENSG00000235931	23524	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.833)	.	deleterious_low_confidence(0)	.	CJ040_HUMAN	C10orf40	HGNC	.	.	UPI00001600DA	SNV	C10orf40,missense_variant,p.Cys71Trp,ENST00000521074,;C10orf40,missense_variant,p.Cys71Trp,ENST00000444900,;C10orf40,missense_variant,p.Cys71Trp,ENST00000430888,;	1300	199	90	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100849716	100849716	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	63	0	ENST00000298815.8:c.2394-2A>T		p.X798_splice	ENST00000298815	NM_152432.2	798		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAGAGTG	NONE	.	.	.	.	.	ENSP00000298815	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298815	Transcript	.	.	ENSG00000165895	26545	.	.	HIGH	21/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG42_HUMAN	ARHGAP42	HGNC	H0YDU1_HUMAN	.	UPI00005778C9	SNV	ARHGAP42,splice_acceptor_variant,,ENST00000524892,;ARHGAP42,splice_acceptor_variant,,ENST00000298815,;ARHGAP42,splice_acceptor_variant,,ENST00000529535,;	.	63	67	SUCCESS
MUC6	4588	.	GRCh37	11	1013919	1013919	+	synonymous_variant	Silent	SNP	G	G	T	rs372205312	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	33	0	ENST00000421673.2:c.7122C>A	p.Gly2374=	p.G2374=	ENST00000421673	NM_005961.2	2374	ggC/ggA	0	A:0	.	.	.	.	T	G	protein_coding	YES	CCDS44513.1	7122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGCCCTC	NONE	byCluster	.	SMART_domains:SM00041,PROSITE_profiles:PS01225	.	A:0.0001	ENSP00000406861	.	32/33	.	.	.	.	.	.	.	.	rs372205312	32/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,synonymous_variant,p.%3D,ENST00000421673,;MUC6,intron_variant,,ENST00000532016,;AP2A2,downstream_gene_variant,,ENST00000534328,;AP2A2,downstream_gene_variant,,ENST00000332231,;AP2A2,downstream_gene_variant,,ENST00000448903,;AP2A2,downstream_gene_variant,,ENST00000529438,;AP2A2,downstream_gene_variant,,ENST00000525891,;AP2A2,downstream_gene_variant,,ENST00000528815,;AP2A2,downstream_gene_variant,,ENST00000526401,;AP2A2,downstream_gene_variant,,ENST00000528816,;AP2A2,downstream_gene_variant,,ENST00000531497,;	7173	33	41	SUCCESS
MMP12	4321	.	GRCh37	11	102738702	102738702	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	108	0	ENST00000532855.1:n.820T>A		p.*274*	ENST00000532855				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATATTTGT	NONE	.	.	.	.	.	.	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MMP12	HGNC	.	.	.	SNV	MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;MMP12,non_coding_transcript_exon_variant,,ENST00000326227,;	820	108	92	SUCCESS
SLC35F2	54733	.	GRCh37	11	107682490	107682490	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1015861030	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	110	0	ENST00000525815.1:c.317G>C	p.Arg106Thr	p.R106T	ENST00000525815	NM_017515.4	106	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS41709.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTTTTC	NONE	.	.	hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Pfam_domain:PF06027,Superfamily_domains:0043518	.	.	ENSP00000436785	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000525815	Transcript	.	.	ENSG00000110660	23615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.37)	.	S35F2_HUMAN	SLC35F2	HGNC	E9PKZ2_HUMAN,B4DUB9_HUMAN	.	UPI0000074335	SNV	SLC35F2,missense_variant,p.Arg106Thr,ENST00000525815,;SLC35F2,missense_variant,p.Arg106Thr,ENST00000429869,;SLC35F2,missense_variant,p.Arg59Thr,ENST00000375682,;SLC35F2,missense_variant,p.Arg106Thr,ENST00000525071,;SLC35F2,5_prime_UTR_variant,,ENST00000265836,;SLC35F2,missense_variant,p.Arg106Thr,ENST00000532513,;SLC35F2,3_prime_UTR_variant,,ENST00000533664,;SLC35F2,3_prime_UTR_variant,,ENST00000524991,;	738	110	59	SUCCESS
NPAT	4863	.	GRCh37	11	108042817	108042817	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	44	0	ENST00000278612.8:c.2785+109G>C		p.*929*	ENST00000278612	NM_002519.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41710.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCTCATA	NONE	.	.	.	.	.	ENSP00000278612	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278612	Transcript	.	.	ENSG00000149308	7896	.	.	MODIFIER	13/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAT_HUMAN	NPAT	HGNC	.	.	UPI00001FA306	SNV	NPAT,intron_variant,,ENST00000278612,;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;NPAT,upstream_gene_variant,,ENST00000530859,;	.	44	28	SUCCESS
ATF4P4	100127952	.	GRCh37	11	113661810	113661810	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	108	277	0	ENST00000393544.2:n.1858C>A		p.*620*	ENST00000393544				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCCAAAC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000393544	Transcript	.	.	ENSG00000256167	787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ATF4P4	HGNC	.	.	.	SNV	ATF4P4,non_coding_transcript_exon_variant,,ENST00000393544,;ATF4P4,non_coding_transcript_exon_variant,,ENST00000438498,;RP11-667M19.5,downstream_gene_variant,,ENST00000544730,;LRRC37A13P,upstream_gene_variant,,ENST00000546055,;	1858	277	208	SUCCESS
CSNK2A3	283106	.	GRCh37	11	11374171	11374171	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	79	0	ENST00000528848.2:c.496C>T	p.His166Tyr	p.H166Y	ENST00000528848	NM_001256686.1	166	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS59224.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGATCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000473553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000528848	Transcript	.	.	ENSG00000254598	2458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	CSK23_HUMAN	CSNK2A3	HGNC	.	.	UPI00001F9D63	SNV	CSNK2A3,missense_variant,p.His166Tyr,ENST00000528848,;GALNT18,intron_variant,,ENST00000227756,;RP11-567I13.1,non_coding_transcript_exon_variant,,ENST00000526867,;	734	79	105	SUCCESS
UBE4A	9354	.	GRCh37	11	118245934	118245934	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	65	0	ENST00000252108.3:c.1440A>T	p.Val480=	p.V480=	ENST00000252108	NM_001204077.1	480	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8396.1	1461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTACACAT	NONE	.	.	hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF2,Pfam_domain:PF10408	.	.	ENSP00000387362	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000431736	Transcript	.	.	ENSG00000110344	12499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE4A_HUMAN	UBE4A	HGNC	B7Z7P0_HUMAN	.	UPI000013CD3F	SNV	UBE4A,synonymous_variant,p.%3D,ENST00000252108,;UBE4A,synonymous_variant,p.%3D,ENST00000431736,;UBE4A,upstream_gene_variant,,ENST00000545354,;	1533	65	60	SUCCESS
KIRREL3	84623	.	GRCh37	11	126326329	126326329	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	66	0	ENST00000525144.2:c.763T>A	p.Ser255Thr	p.S255T	ENST00000525144	NM_032531.3	255	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS53723.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGAGAGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF49,hmmpanther:PTHR11640,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000435466	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000525144	Transcript	.	.	ENSG00000149571	23204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	KIRR3_HUMAN	KIRREL3	HGNC	B4DT91_HUMAN	.	UPI00000740A0	SNV	KIRREL3,missense_variant,p.Ser255Thr,ENST00000529097,;KIRREL3,missense_variant,p.Ser255Thr,ENST00000525144,;KIRREL3,missense_variant,p.Ser255Thr,ENST00000525704,;	1013	66	64	SUCCESS
ACAD8	27034	.	GRCh37	11	134127071	134127071	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	94	0	ENST00000281182.4:c.300G>T	p.Leu100=	p.L100=	ENST00000281182	NM_014384.2	100	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8498.1	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGTCACG	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Gene3D:1.10.540.10,Pfam_domain:PF02771,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645	.	.	ENSP00000281182	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,synonymous_variant,p.%3D,ENST00000281182,;ACAD8,synonymous_variant,p.%3D,ENST00000537423,;ACAD8,intron_variant,,ENST00000543332,;ACAD8,intron_variant,,ENST00000374752,;THYN1,upstream_gene_variant,,ENST00000352327,;THYN1,upstream_gene_variant,,ENST00000341541,;THYN1,upstream_gene_variant,,ENST00000392594,;THYN1,upstream_gene_variant,,ENST00000392595,;ACAD8,intron_variant,,ENST00000524547,;THYN1,upstream_gene_variant,,ENST00000525677,;ACAD8,missense_variant,p.Val67Phe,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000528325,;ACAD8,non_coding_transcript_exon_variant,,ENST00000534433,;ACAD8,intron_variant,,ENST00000527082,;ACAD8,intron_variant,,ENST00000524426,;ACAD8,intron_variant,,ENST00000530533,;ACAD8,intron_variant,,ENST00000534240,;ACAD8,intron_variant,,ENST00000533387,;ACAD8,upstream_gene_variant,,ENST00000524739,;ACAD8,upstream_gene_variant,,ENST00000527713,;ACAD8,upstream_gene_variant,,ENST00000527665,;THYN1,upstream_gene_variant,,ENST00000531135,;THYN1,upstream_gene_variant,,ENST00000533975,;ACAD8,downstream_gene_variant,,ENST00000525961,;	406	94	70	SUCCESS
B3GAT1	27087	.	GRCh37	11	134253922	134253922	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	53	113	0	ENST00000312527.4:c.273C>A	p.Pro91=	p.P91=	ENST00000312527	NM_054025.2	91	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8500.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTGGGCGT	NONE	.	.	hmmpanther:PTHR10896,hmmpanther:PTHR10896:SF21,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000433847	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000524765	Transcript	.	.	ENSG00000109956	921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GA1_HUMAN	B3GAT1	HGNC	Q8ND18_HUMAN	.	UPI0000073281	SNV	B3GAT1,synonymous_variant,p.%3D,ENST00000524765,;B3GAT1,synonymous_variant,p.%3D,ENST00000537389,;B3GAT1,synonymous_variant,p.%3D,ENST00000312527,;B3GAT1,synonymous_variant,p.%3D,ENST00000392580,;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531510,;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531778,;	4818	113	111	SUCCESS
DGKZ	8525	.	GRCh37	11	46394022	46394022	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	104	0	ENST00000454345.1:c.1536A>T	p.Arg512=	p.R512=	ENST00000454345	NM_001105540.1	512	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS41640.1	1536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGACAAGT	NONE	.	.	PROSITE_profiles:PS50146,hmmpanther:PTHR11255:SF43,hmmpanther:PTHR11255,Pfam_domain:PF00781,SMART_domains:SM00046,Superfamily_domains:SSF111331	.	.	ENSP00000412178	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000454345	Transcript	.	.	ENSG00000149091	2857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKZ_HUMAN	DGKZ	HGNC	Q7Z5X8_HUMAN,E9PNL8_HUMAN	.	UPI000013DB71	SNV	DGKZ,synonymous_variant,p.%3D,ENST00000421244,;DGKZ,synonymous_variant,p.%3D,ENST00000527911,;DGKZ,synonymous_variant,p.%3D,ENST00000456247,;DGKZ,synonymous_variant,p.%3D,ENST00000343674,;DGKZ,synonymous_variant,p.%3D,ENST00000454345,;DGKZ,synonymous_variant,p.%3D,ENST00000318201,;DGKZ,synonymous_variant,p.%3D,ENST00000395574,;DGKZ,synonymous_variant,p.%3D,ENST00000528615,;DGKZ,synonymous_variant,p.%3D,ENST00000532868,;DGKZ,intron_variant,,ENST00000543978,;DGKZ,upstream_gene_variant,,ENST00000524869,;DGKZ,downstream_gene_variant,,ENST00000524448,;DGKZ,downstream_gene_variant,,ENST00000525242,;MIR4688,upstream_gene_variant,,ENST00000577966,;DGKZ,upstream_gene_variant,,ENST00000529660,;DGKZ,downstream_gene_variant,,ENST00000534215,;DGKZ,downstream_gene_variant,,ENST00000525434,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,non_coding_transcript_exon_variant,,ENST00000527903,;DGKZ,non_coding_transcript_exon_variant,,ENST00000531879,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,downstream_gene_variant,,ENST00000533376,;DGKZ,upstream_gene_variant,,ENST00000529698,;DGKZ,upstream_gene_variant,,ENST00000527211,;DGKZ,downstream_gene_variant,,ENST00000527674,;	1661	104	86	SUCCESS
SLC22A10	387775	.	GRCh37	11	63057748	63057748	+	synonymous_variant	Silent	SNP	A	A	G	rs537943997	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	58	134	0	ENST00000332793.6:c.111A>G	p.Leu37=	p.L37=	ENST00000332793	NM_001039752.3	37	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS41661.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTAGAGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38	.	.	ENSP00000327569	.	1/10	.	.	.	.	.	.	.	.	rs537943997	1/10	PASS	ENST00000332793	Transcript	.	.	ENSG00000184999	18057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AA_HUMAN	SLC22A10	HGNC	B4DJY8_HUMAN	.	UPI0000D62620	SNV	SLC22A10,splice_acceptor_variant,,ENST00000544661,;SLC22A10,synonymous_variant,p.%3D,ENST00000332793,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,upstream_gene_variant,,ENST00000526800,;SLC22A10,non_coding_transcript_exon_variant,,ENST00000533176,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,splice_acceptor_variant,,ENST00000533483,;SLC22A10,upstream_gene_variant,,ENST00000532724,;	113	134	115	SUCCESS
NARS2	79731	.	GRCh37	11	78147774	78147774	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs780902837	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	120	358	0	ENST00000281038.5:c.1376T>C	p.Val459Ala	p.V459A	ENST00000281038	NM_001243251.1	459	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS8261.1	1376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAACACCC	NONE	.	.	HAMAP:MF_00534,PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF6,Gene3D:3.30.930.10,Pfam_domain:PF00152,TIGRFAM_domain:TIGR00457,Superfamily_domains:SSF55681	.	.	ENSP00000281038	.	14/14	.	.	.	.	.	.	.	.	rs780902837	14/14	PASS	ENST00000281038	Transcript	.	.	ENSG00000137513	26274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	deleterious(0.03)	.	SYNM_HUMAN	NARS2	HGNC	G3V178_HUMAN	.	UPI000036680B	SNV	NARS2,missense_variant,p.Val63Ala,ENST00000529771,;NARS2,missense_variant,p.Val232Ala,ENST00000528850,;NARS2,missense_variant,p.Val459Ala,ENST00000281038,;RP11-452H21.1,intron_variant,,ENST00000534168,;NARS2,downstream_gene_variant,,ENST00000525345,;	1752	359	293	SUCCESS
KIAA1731	0	.	GRCh37	11	93461977	93461977	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	46	0	ENST00000325212.6:c.7292G>A	p.Cys2431Tyr	p.C2431Y	ENST00000325212		2431	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS44708.1	7292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGCTTCT	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0.01)	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,missense_variant,p.Cys443Tyr,ENST00000531404,;KIAA1731,missense_variant,p.Cys611Tyr,ENST00000344196,;KIAA1731,missense_variant,p.Cys2431Tyr,ENST00000325212,;KIAA1731,missense_variant,p.Cys2431Tyr,ENST00000411936,;KIAA1731,missense_variant,p.Cys611Tyr,ENST00000531700,;KIAA1731,downstream_gene_variant,,ENST00000529185,;SNORA1,downstream_gene_variant,,ENST00000384107,;MIR1304,downstream_gene_variant,,ENST00000408243,;SNORD5,downstream_gene_variant,,ENST00000459342,;SNORA8,downstream_gene_variant,,ENST00000384574,;SNORA32,downstream_gene_variant,,ENST00000384072,;SNORD6,downstream_gene_variant,,ENST00000365444,;SNORA18,downstream_gene_variant,,ENST00000384416,;SNORA25,downstream_gene_variant,,ENST00000384384,;TAF1D,downstream_gene_variant,,ENST00000546088,;TAF1D,downstream_gene_variant,,ENST00000530089,;TAF1D,downstream_gene_variant,,ENST00000533794,;TAF1D,downstream_gene_variant,,ENST00000527068,;TAF1D,downstream_gene_variant,,ENST00000540232,;TAF1D,downstream_gene_variant,,ENST00000529794,;TAF1D,downstream_gene_variant,,ENST00000393259,;TAF1D,downstream_gene_variant,,ENST00000526015,;TAF1D,downstream_gene_variant,,ENST00000530769,;TAF1D,downstream_gene_variant,,ENST00000323981,;TAF1D,downstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000529900,;TAF1D,downstream_gene_variant,,ENST00000527169,;TAF1D,downstream_gene_variant,,ENST00000534079,;TAF1D,downstream_gene_variant,,ENST00000525928,;	7454	46	42	SUCCESS
CLEC12B	387837	.	GRCh37	12	10167985	10167985	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	113	0	ENST00000338896.5:c.544A>G	p.Ile182Val	p.I182V	ENST00000338896	NM_001129998.1	182	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS44830.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGATAGAC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF151,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000344563	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000338896	Transcript	.	.	ENSG00000256660	31966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	deleterious(0.05)	.	CL12B_HUMAN	CLEC12B	HGNC	.	.	UPI000036687A	SNV	CLEC12B,missense_variant,p.Ile182Val,ENST00000338896,;CLEC12B,missense_variant,p.Ile182Val,ENST00000396502,;CLEC1B,upstream_gene_variant,,ENST00000428126,;RP11-133L14.5,non_coding_transcript_exon_variant,,ENST00000544225,;CLEC12B,missense_variant,p.Ile182Val,ENST00000544853,;CLEC12B,3_prime_UTR_variant,,ENST00000539155,;CLEC12B,downstream_gene_variant,,ENST00000535903,;	672	113	101	SUCCESS
UTP20	27340	.	GRCh37	12	101745844	101745844	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	112	0	ENST00000261637.4:c.4896A>T	p.Ile1632=	p.I1632=	ENST00000261637	NM_014503.2	1632	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9081.1	4896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATAACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	39/62	.	.	.	.	.	.	.	.	.	39/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,synonymous_variant,p.%3D,ENST00000261637,;	5070	112	96	SUCCESS
CAMKK2	10645	.	GRCh37	12	121691155	121691155	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	122	0	ENST00000324774.5:c.1028T>A	p.Leu343His	p.L343H	ENST00000324774	NM_006549.3	343	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS9216.1	1028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGAGCGCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF178,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000312741	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000324774	Transcript	.	.	ENSG00000110931	1470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0.04)	.	KKCC2_HUMAN	CAMKK2	HGNC	Q8IZW1_HUMAN,F5H4I7_HUMAN,F5H360_HUMAN	.	UPI000013D208	SNV	CAMKK2,missense_variant,p.Leu343His,ENST00000412367,;CAMKK2,missense_variant,p.Leu343His,ENST00000324774,;CAMKK2,missense_variant,p.Leu343His,ENST00000347034,;CAMKK2,missense_variant,p.Leu343His,ENST00000404169,;CAMKK2,missense_variant,p.Leu130His,ENST00000545538,;CAMKK2,missense_variant,p.Leu343His,ENST00000538733,;CAMKK2,missense_variant,p.Leu343His,ENST00000392473,;CAMKK2,missense_variant,p.Leu343His,ENST00000402834,;CAMKK2,missense_variant,p.Leu343His,ENST00000337174,;CAMKK2,missense_variant,p.Leu343His,ENST00000392474,;CAMKK2,missense_variant,p.Leu343His,ENST00000446440,;CAMKK2,non_coding_transcript_exon_variant,,ENST00000535524,;	1857	122	85	SUCCESS
PUS1	80324	.	GRCh37	12	132428101	132428101	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	56	0	ENST00000376649.3:c.1254A>T	p.Glu418Asp	p.E418D	ENST00000376649	NM_025215.5	418	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS9275.2	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAAGGCAG	NONE	.	.	.	.	.	ENSP00000365837	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000376649	Transcript	.	.	ENSG00000177192	15508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.21)	.	TRUA_HUMAN	PUS1	HGNC	E5KMT6_HUMAN,E5KMT5_HUMAN,G8JLB3_HUMAN,F5GY32_HUMAN	.	UPI000006FC81	SNV	PUS1,missense_variant,p.Glu365Asp,ENST00000542167,;PUS1,missense_variant,p.Glu390Asp,ENST00000443358,;PUS1,missense_variant,p.Glu390Asp,ENST00000440818,;PUS1,missense_variant,p.Glu125Asp,ENST00000535067,;PUS1,missense_variant,p.Glu418Asp,ENST00000376649,;PUS1,downstream_gene_variant,,ENST00000537484,;PUS1,downstream_gene_variant,,ENST00000322060,;PUS1,downstream_gene_variant,,ENST00000538037,;PUS1,non_coding_transcript_exon_variant,,ENST00000543754,;	1754	56	44	SUCCESS
KIAA1551	0	.	GRCh37	12	32136173	32136173	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	111	0	ENST00000312561.4:c.2284G>A	p.Val762Ile	p.V762I	ENST00000312561	NM_018169.3	762	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS8725.2	2284	MUTECT|MUSE	.	TAGCTGTAGTG	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	COSM373556,COSM1188464	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.18)	.	tolerated(0.19)	1,1	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,missense_variant,p.Val762Ile,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	2698	111	91	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48143536	48143536	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	80	0	ENST00000389212.3:c.882G>C	p.Val294=	p.V294=	ENST00000389212		294	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS41775.1	882	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCACCAC	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR23113:SF24,hmmpanther:PTHR23113,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000395708	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,synonymous_variant,p.%3D,ENST00000395358,;RAPGEF3,synonymous_variant,p.%3D,ENST00000548919,;RAPGEF3,synonymous_variant,p.%3D,ENST00000389212,;RAPGEF3,synonymous_variant,p.%3D,ENST00000171000,;RAPGEF3,synonymous_variant,p.%3D,ENST00000549151,;RAPGEF3,synonymous_variant,p.%3D,ENST00000449771,;RAPGEF3,synonymous_variant,p.%3D,ENST00000405493,;RAPGEF3,downstream_gene_variant,,ENST00000466322,;SLC48A1,upstream_gene_variant,,ENST00000548498,;RAPGEF3,downstream_gene_variant,,ENST00000495953,;RAPGEF3,downstream_gene_variant,,ENST00000549347,;RAPGEF3,stop_lost,p.Ter109SerextTer7,ENST00000495465,;RAPGEF3,3_prime_UTR_variant,,ENST00000547856,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000494764,;SLC48A1,upstream_gene_variant,,ENST00000552003,;RAPGEF3,upstream_gene_variant,,ENST00000395360,;	971	80	48	SUCCESS
KMT2D	8085	.	GRCh37	12	49440559	49440559	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200353763	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	108	0	ENST00000301067.7:c.4251G>T	p.Met1417Ile	p.M1417I	ENST00000301067	NM_003482.3	1417	atG/atT	0	.	T:0	.	T:0	.	A	M/I	protein_coding	YES	CCDS44873.1	4251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCATCAC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,SMART_domains:SM00184,Superfamily_domains:SSF57903	T:0.001	.	ENSP00000301067	T:0	15/54	.	.	.	.	.	.	.	.	rs200353763	15/54	PASS	ENST00000301067	Transcript	.	T:0.0002	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	T:0	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Met1417Ile,ENST00000301067,;KMT2D,upstream_gene_variant,,ENST00000550356,;	4251	108	69	SUCCESS
LMBR1L	55716	.	GRCh37	12	49496886	49496886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	60	150	0	ENST00000267102.8:c.619C>A	p.Leu207Met	p.L207M	ENST00000267102	NM_018113.2	207	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS8780.2	619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGAACCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12625:SF2,hmmpanther:PTHR12625,Pfam_domain:PF04791,Prints_domain:PR01692	.	.	ENSP00000267102	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000267102	Transcript	.	.	ENSG00000139636	18268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.1)	.	LMBRL_HUMAN	LMBR1L	HGNC	F8VVE2_HUMAN	.	UPI0000071212	SNV	LMBR1L,missense_variant,p.Leu202Met,ENST00000395141,;LMBR1L,missense_variant,p.Leu207Met,ENST00000267102,;LMBR1L,missense_variant,p.Leu207Met,ENST00000547382,;LMBR1L,intron_variant,,ENST00000547675,;LMBR1L,downstream_gene_variant,,ENST00000551854,;LMBR1L,downstream_gene_variant,,ENST00000551782,;LMBR1L,upstream_gene_variant,,ENST00000552449,;LMBR1L,downstream_gene_variant,,ENST00000550137,;LMBR1L,upstream_gene_variant,,ENST00000547698,;LMBR1L,downstream_gene_variant,,ENST00000548983,;LMBR1L,downstream_gene_variant,,ENST00000553204,;LMBR1L,downstream_gene_variant,,ENST00000552153,;LMBR1L,upstream_gene_variant,,ENST00000549429,;LMBR1L,3_prime_UTR_variant,,ENST00000457164,;LMBR1L,3_prime_UTR_variant,,ENST00000417750,;LMBR1L,3_prime_UTR_variant,,ENST00000547670,;LMBR1L,3_prime_UTR_variant,,ENST00000551169,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552879,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000549730,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552577,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552141,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000550867,;LMBR1L,upstream_gene_variant,,ENST00000553040,;LMBR1L,downstream_gene_variant,,ENST00000549587,;LMBR1L,downstream_gene_variant,,ENST00000549296,;LMBR1L,downstream_gene_variant,,ENST00000551115,;LMBR1L,downstream_gene_variant,,ENST00000551535,;LMBR1L,upstream_gene_variant,,ENST00000551272,;LMBR1L,upstream_gene_variant,,ENST00000551143,;LMBR1L,downstream_gene_variant,,ENST00000550815,;LMBR1L,upstream_gene_variant,,ENST00000547813,;	962	150	125	SUCCESS
KRT71	112802	.	GRCh37	12	52946681	52946681	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	85	0	ENST00000267119.5:c.181A>T	p.Ser61Cys	p.S61C	ENST00000267119	NM_033448.2	61	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS8831.1	181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACTGGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116	.	.	ENSP00000267119	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000267119	Transcript	.	.	ENSG00000139648	28927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.09)	.	K2C71_HUMAN	KRT71	HGNC	.	.	UPI0000052B57	SNV	KRT71,missense_variant,p.Ser61Cys,ENST00000267119,;	251	85	64	SUCCESS
VWF	7450	.	GRCh37	12	6091140	6091140	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	64	0	ENST00000261405.5:c.7099T>G	p.Cys2367Gly	p.C2367G	ENST00000261405	NM_000552.3	2367	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS8539.1	7099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCACTCCT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,PIRSF_domain:PIRSF002495	.	.	ENSP00000261405	.	42/52	.	.	.	.	.	.	.	.	.	42/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,missense_variant,p.Cys2367Gly,ENST00000261405,;	7354	64	62	SUCCESS
PPM1H	57460	.	GRCh37	12	63328291	63328291	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	111	0	ENST00000228705.6:c.226T>A	p.Trp76Arg	p.W76R	ENST00000228705	NM_020700.1	76	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS44934.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCAGGGCA	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000228705	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000228705	Transcript	.	.	ENSG00000111110	18583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,missense_variant,p.Trp76Arg,ENST00000228705,;Y_RNA,upstream_gene_variant,,ENST00000516851,;PPM1H,upstream_gene_variant,,ENST00000548414,;	527	111	83	SUCCESS
NCAPD2	9918	.	GRCh37	12	6618958	6618958	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	78	0	ENST00000315579.5:c.203A>T	p.His68Leu	p.H68L	ENST00000315579	NM_014865.3	68	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS8548.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCAGTAAG	NONE	.	.	hmmpanther:PTHR14222,hmmpanther:PTHR14222:SF2,PIRSF_domain:PIRSF017127	.	.	ENSP00000325017	.	3/32	.	.	.	.	.	.	.	.	.	3/32	PASS	ENST00000315579	Transcript	.	.	ENSG00000010292	24305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.5)	.	CND1_HUMAN	NCAPD2	HGNC	F5GZK7_HUMAN	.	UPI000013C8CA	SNV	NCAPD2,missense_variant,p.Met43Leu,ENST00000545962,;NCAPD2,missense_variant,p.His68Leu,ENST00000315579,;NCAPD2,missense_variant,p.His68Leu,ENST00000539714,;NCAPD2,missense_variant,p.His68Leu,ENST00000382457,;SCARNA10,upstream_gene_variant,,ENST00000459255,;SCARNA10,upstream_gene_variant,,ENST00000541782,;NCAPD2,splice_region_variant,,ENST00000541399,;NCAPD2,missense_variant,p.His68Leu,ENST00000539084,;NCAPD2,upstream_gene_variant,,ENST00000545732,;	1002	78	55	SUCCESS
EEA1	8411	.	GRCh37	12	93170694	93170694	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	39	80	0	ENST00000322349.8:c.4039A>T	p.Arg1347Ter	p.R1347*	ENST00000322349	NM_003566.3	1347	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS31874.1	4039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTATTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23164:SF2,hmmpanther:PTHR23164,Gene3D:1jocA01,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000317955	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,stop_gained,p.Arg1347Ter,ENST00000322349,;PLEKHG7,downstream_gene_variant,,ENST00000344636,;	4304	80	79	SUCCESS
CHAMP1	283489	.	GRCh37	13	115090611	115090611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	112	0	ENST00000361283.1:c.1294A>T	p.Ser432Cys	p.S432C	ENST00000361283	NM_032436.2	432	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9545.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTAGTCCA	NONE	.	.	.	.	.	ENSP00000354730	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000361283	Transcript	.	.	ENSG00000198824	20311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.01)	.	CHAP1_HUMAN	CHAMP1	HGNC	S4R3K0_HUMAN	.	UPI00001C1F5B	SNV	CHAMP1,missense_variant,p.Ser432Cys,ENST00000361283,;CHAMP1,downstream_gene_variant,,ENST00000463003,;LINC01054,downstream_gene_variant,,ENST00000446989,;CHAMP1,downstream_gene_variant,,ENST00000478022,;	1603	112	102	SUCCESS
C1QTNF9B	387911	.	GRCh37	13	24466006	24466006	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs750166217	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	39	194	0	ENST00000382137.3:c.424A>G	p.Ile142Val	p.I142V	ENST00000382137	NM_001007537.1	142	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31947.1	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATGTTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022:SF73,hmmpanther:PTHR24022	.	.	ENSP00000371572	.	3/3	.	.	.	.	.	.	.	.	rs750166217	3/3	PASS	ENST00000382137	Transcript	.	.	ENSG00000205863	34072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.53)	.	C1T9B_HUMAN	C1QTNF9B	HGNC	.	.	UPI000004F070	SNV	C1QTNF9B,missense_variant,p.Ile142Val,ENST00000382137,;C1QTNF9B,missense_variant,p.Ile142Val,ENST00000382140,;C1QTNF9B,intron_variant,,ENST00000382145,;C1QTNF9B,intron_variant,,ENST00000382057,;MIPEP,upstream_gene_variant,,ENST00000382172,;C1QTNF9B-AS1,non_coding_transcript_exon_variant,,ENST00000435039,;C1QTNF9B-AS1,non_coding_transcript_exon_variant,,ENST00000382133,;C1QTNF9B-AS1,intron_variant,,ENST00000417034,;C1QTNF9B,intron_variant,,ENST00000556521,;MIPEP,upstream_gene_variant,,ENST00000469167,;	493	194	147	SUCCESS
NUDT15	55270	.	GRCh37	13	48611949	48611949	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	84	202	0	ENST00000258662.2:c.67T>G	p.Cys23Gly	p.C23G	ENST00000258662	NM_018283.1	23	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS9407.1	67	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTGCAAG	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR16099,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000258662	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258662	Transcript	.	.	ENSG00000136159	23063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	NUD15_HUMAN	NUDT15	HGNC	.	.	UPI000006EA15	SNV	NUDT15,missense_variant,p.Cys23Gly,ENST00000258662,;SUCLA2,5_prime_UTR_variant,,ENST00000543413,;	247	202	96	SUCCESS
DLEU2	8847	.	GRCh37	13	50623320	50623320	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	88	236	0	ENST00000235290.3:n.439+400A>T		p.*147*	ENST00000235290				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTGCTAC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000235290	Transcript	.	.	ENSG00000231607	13748	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DLEU2	HGNC	.	.	.	SNV	DLEU2,mature_miRNA_variant,,ENST00000607334,;MIR16-1,upstream_gene_variant,,ENST00000385271,;DLEU2,intron_variant,,ENST00000235290,;DLEU2,intron_variant,,ENST00000458725,;DLEU2,intron_variant,,ENST00000433070,;DLEU2,intron_variant,,ENST00000425586,;DLEU2,intron_variant,,ENST00000443587,;DLEU2,downstream_gene_variant,,ENST00000449579,;DLEU2,downstream_gene_variant,,ENST00000421758,;	.	236	103	SUCCESS
HHIPL1	84439	.	GRCh37	14	100138668	100138668	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	112	0	ENST00000330710.5:c.1745G>C	p.Gly582Ala	p.G582A	ENST00000330710	NM_001127258.1	582	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS45162.1	1745	MUTECT|MUSE	.	ACCTGGCAAAT	NONE	.	.	Gene3D:2.120.10.30,hmmpanther:PTHR19328:SF32,hmmpanther:PTHR19328	.	.	ENSP00000330601	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000330710	Transcript	.	.	ENSG00000182218	19710	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.887)	.	deleterious(0.03)	.	HIPL1_HUMAN	HHIPL1	HGNC	F1T0G3_HUMAN	.	UPI000022988D	SNV	HHIPL1,missense_variant,p.Gly582Ala,ENST00000330710,;HHIPL1,downstream_gene_variant,,ENST00000357223,;	1843	112	108	SUCCESS
PLD4	122618	.	GRCh37	14	105393469	105393469	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	120	0	ENST00000392593.4:c.1-9C>A		p.*1*	ENST00000392593	NM_138790.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9995.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCTGTG	NONE	.	.	.	.	.	ENSP00000376372	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392593	Transcript	.	.	ENSG00000166428	23792	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLD4_HUMAN	PLD4	HGNC	G3V472_HUMAN	.	UPI0000374BC9	SNV	PLD4,missense_variant,p.Pro5Thr,ENST00000540372,;PLD4,intron_variant,,ENST00000392593,;PLD4,intron_variant,,ENST00000557573,;PLD4,intron_variant,,ENST00000472901,;PLD4,upstream_gene_variant,,ENST00000472702,;	.	120	95	SUCCESS
PLD4	122618	.	GRCh37	14	105393470	105393470	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	122	0	ENST00000392593.4:c.1-8C>A		p.X1_splice	ENST00000392593	NM_138790.2	1		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9995.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCTGTGC	NONE	.	.	.	.	.	ENSP00000376372	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392593	Transcript	.	.	ENSG00000166428	23792	.	.	LOW	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLD4_HUMAN	PLD4	HGNC	G3V472_HUMAN	.	UPI0000374BC9	SNV	PLD4,missense_variant,p.Pro5His,ENST00000540372,;PLD4,splice_region_variant,,ENST00000392593,;PLD4,splice_region_variant,,ENST00000557573,;PLD4,splice_region_variant,,ENST00000472901,;PLD4,upstream_gene_variant,,ENST00000472702,;	.	122	94	SUCCESS
JAG2	3714	.	GRCh37	14	105609964	105609964	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	50	0	ENST00000331782.3:c.3096T>A	p.Pro1032=	p.P1032=	ENST00000331782	NM_002226.4	1032	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9998.1	3096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCAGGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044	.	.	ENSP00000328169	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000331782	Transcript	.	.	ENSG00000184916	6189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JAG2_HUMAN	JAG2	HGNC	.	.	UPI0000167BD5	SNV	JAG2,synonymous_variant,p.%3D,ENST00000347004,;JAG2,synonymous_variant,p.%3D,ENST00000331782,;JAG2,non_coding_transcript_exon_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553244,;	3500	50	46	SUCCESS
PACS2	23241	.	GRCh37	14	105849223	105849223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	32	0	ENST00000325438.8:c.1586G>T	p.Ser529Ile	p.S529I	ENST00000325438		529	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS45178.2	1598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGCACCA	NONE	.	.	Pfam_domain:PF10254,hmmpanther:PTHR13280:SF15,hmmpanther:PTHR13280	.	.	ENSP00000399732	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000458164	Transcript	.	.	ENSG00000179364	23794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0)	.	PACS2_HUMAN	PACS2	HGNC	F8W0V0_HUMAN,F8W0B1_HUMAN	.	UPI0000E56F01	SNV	PACS2,missense_variant,p.Ser533Ile,ENST00000458164,;PACS2,missense_variant,p.Ser533Ile,ENST00000447393,;PACS2,missense_variant,p.Ser499Ile,ENST00000547217,;PACS2,missense_variant,p.Ser529Ile,ENST00000325438,;PACS2,missense_variant,p.Ser454Ile,ENST00000430725,;PACS2,upstream_gene_variant,,ENST00000551743,;PACS2,non_coding_transcript_exon_variant,,ENST00000551692,;PACS2,non_coding_transcript_exon_variant,,ENST00000547903,;	1773	32	27	SUCCESS
MTA1	9112	.	GRCh37	14	105931455	105931455	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1187970091	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	101	0	ENST00000331320.7:c.1559C>T	p.Ser520Phe	p.S520F	ENST00000331320	NM_004689.3	520	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS32169.1	1559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCCAGA	NONE	.	.	hmmpanther:PTHR10865:SF5,hmmpanther:PTHR10865	.	.	ENSP00000333633	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000331320	Transcript	.	.	ENSG00000182979	7410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.534)	.	deleterious(0.01)	.	MTA1_HUMAN	MTA1	HGNC	Q86TR6_HUMAN,F8VSM3_HUMAN,F8VPC5_HUMAN	.	UPI00003669FD	SNV	MTA1,missense_variant,p.Ser503Phe,ENST00000405646,;MTA1,missense_variant,p.Ser520Phe,ENST00000331320,;MTA1,missense_variant,p.Ser56Phe,ENST00000435036,;MTA1,missense_variant,p.Ser520Phe,ENST00000406191,;MTA1,missense_variant,p.Ser312Phe,ENST00000434050,;MTA1,upstream_gene_variant,,ENST00000494981,;MTA1,downstream_gene_variant,,ENST00000550551,;MTA1,downstream_gene_variant,,ENST00000498644,;MTA1,upstream_gene_variant,,ENST00000426567,;RP11-521B24.5,downstream_gene_variant,,ENST00000552675,;MTA1,3_prime_UTR_variant,,ENST00000438610,;MTA1,non_coding_transcript_exon_variant,,ENST00000490198,;MTA1,non_coding_transcript_exon_variant,,ENST00000469140,;MTA1,upstream_gene_variant,,ENST00000481206,;MTA1,downstream_gene_variant,,ENST00000424723,;MTA1,downstream_gene_variant,,ENST00000481012,;MTA1,downstream_gene_variant,,ENST00000550808,;MTA1,upstream_gene_variant,,ENST00000552286,;MTA1,upstream_gene_variant,,ENST00000481635,;	1773	101	86	SUCCESS
IGHG1	3500	.	GRCh37	14	106209320	106209320	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	68	0	ENST00000390549.2:c.89A>G	p.Lys30Arg	p.K30R	ENST00000390549		30	aAg/aGg	0	.	.	.	.	.	C	K/R	IG_C_gene	YES	.	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTTGACC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835	.	.	ENSP00000374990	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000390548	Transcript	1	.	ENSG00000211896	5525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	deleterious(0.04)	.	.	IGHG1	HGNC	.	.	UPI000173A69D	SNV	IGHG1,missense_variant,p.Lys30Arg,ENST00000390542,;IGHG1,missense_variant,p.Lys30Arg,ENST00000390549,;IGHG1,missense_variant,p.Lys30Arg,ENST00000390548,;	89	68	44	SUCCESS
OR5AU1	390445	.	GRCh37	14	21623396	21623396	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	6	165	1	ENST00000304418.3:c.789C>A	p.Leu263=	p.L263=	ENST00000304418	NM_001004731.1	263	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32042.1	789	MUTECT|MUSE	.	ATGGTGAGGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF186,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000302057	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304418	Transcript	.	.	ENSG00000169327	15362	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O5AU1_HUMAN	OR5AU1	HGNC	.	.	UPI000015F240	SNV	OR5AU1,synonymous_variant,p.%3D,ENST00000304418,;	827	166	148	SUCCESS
IRF9	10379	.	GRCh37	14	24634149	24634149	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755364562	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	42	0	ENST00000396864.3:c.976G>T	p.Ala326Ser	p.A326S	ENST00000396864	NM_006084.4	326	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9615.1	976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGCCTAC	NONE	.	.	hmmpanther:PTHR11949:SF21,hmmpanther:PTHR11949,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	.	.	ENSP00000380073	.	7/9	.	.	.	.	.	.	.	.	rs755364562	7/9	PASS	ENST00000396864	Transcript	.	.	ENSG00000213928	6131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.92)	.	IRF9_HUMAN	IRF9	HGNC	.	.	UPI000012D8C2	SNV	IRF9,missense_variant,p.Ala326Ser,ENST00000396864,;IRF9,missense_variant,p.Ala224Ser,ENST00000557894,;IRF9,intron_variant,,ENST00000324076,;IRF9,downstream_gene_variant,,ENST00000559284,;IRF9,downstream_gene_variant,,ENST00000560275,;RNF31,downstream_gene_variant,,ENST00000559719,;RNF31,downstream_gene_variant,,ENST00000324103,;RNF31,downstream_gene_variant,,ENST00000382687,;RNF31,downstream_gene_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000559275,;RP11-468E2.4,3_prime_UTR_variant,,ENST00000558468,;IRF9,3_prime_UTR_variant,,ENST00000561342,;IRF9,non_coding_transcript_exon_variant,,ENST00000560542,;IRF9,non_coding_transcript_exon_variant,,ENST00000561415,;IRF9,downstream_gene_variant,,ENST00000561412,;RNF31,downstream_gene_variant,,ENST00000559071,;RNF31,downstream_gene_variant,,ENST00000559449,;IRF9,downstream_gene_variant,,ENST00000560365,;IRF9,downstream_gene_variant,,ENST00000560852,;RNF31,downstream_gene_variant,,ENST00000491351,;RNF31,downstream_gene_variant,,ENST00000483895,;RNF31,downstream_gene_variant,,ENST00000560631,;IRF9,downstream_gene_variant,,ENST00000561009,;IRF9,downstream_gene_variant,,ENST00000559863,;IRF9,downstream_gene_variant,,ENST00000559229,;RNF31,downstream_gene_variant,,ENST00000559491,;IRF9,upstream_gene_variant,,ENST00000560311,;	1263	42	37	SUCCESS
IRF9	10379	.	GRCh37	14	24634150	24634150	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	40	0	ENST00000396864.3:c.977C>T	p.Ala326Val	p.A326V	ENST00000396864	NM_006084.4	326	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9615.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCGCCTACT	NONE	.	.	hmmpanther:PTHR11949:SF21,hmmpanther:PTHR11949,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	.	.	ENSP00000380073	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000396864	Transcript	.	.	ENSG00000213928	6131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.13)	.	IRF9_HUMAN	IRF9	HGNC	.	.	UPI000012D8C2	SNV	IRF9,missense_variant,p.Ala326Val,ENST00000396864,;IRF9,missense_variant,p.Ala224Val,ENST00000557894,;IRF9,intron_variant,,ENST00000324076,;IRF9,downstream_gene_variant,,ENST00000559284,;IRF9,downstream_gene_variant,,ENST00000560275,;RNF31,downstream_gene_variant,,ENST00000559719,;RNF31,downstream_gene_variant,,ENST00000324103,;RNF31,downstream_gene_variant,,ENST00000382687,;RNF31,downstream_gene_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000559275,;RP11-468E2.4,3_prime_UTR_variant,,ENST00000558468,;IRF9,3_prime_UTR_variant,,ENST00000561342,;IRF9,non_coding_transcript_exon_variant,,ENST00000560542,;IRF9,non_coding_transcript_exon_variant,,ENST00000561415,;IRF9,downstream_gene_variant,,ENST00000561412,;RNF31,downstream_gene_variant,,ENST00000559071,;RNF31,downstream_gene_variant,,ENST00000559449,;IRF9,downstream_gene_variant,,ENST00000560365,;IRF9,downstream_gene_variant,,ENST00000560852,;RNF31,downstream_gene_variant,,ENST00000491351,;RNF31,downstream_gene_variant,,ENST00000483895,;RNF31,downstream_gene_variant,,ENST00000560631,;IRF9,downstream_gene_variant,,ENST00000561009,;IRF9,downstream_gene_variant,,ENST00000559863,;IRF9,downstream_gene_variant,,ENST00000559229,;RNF31,downstream_gene_variant,,ENST00000559491,;IRF9,upstream_gene_variant,,ENST00000560311,;	1264	40	36	SUCCESS
KIAA0586	9786	.	GRCh37	14	58965625	58965631	+	frameshift_variant	Frame_Shift_Del	DEL	TGGATCA	TGGATCA	AT	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	TGGATCA	TGGATCA	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	101	0	ENST00000354386.6:c.4274_4280delinsAT	p.Leu1425TyrfsTer4	p.L1425Yfs*4	ENST00000354386	NM_001244189.1	1425	tTGGATCAa/tATa	0	.	.	.	.	.	AT	LDQ/YX	protein_coding	YES	CCDS58320.1	4274-4280	INDELOCATOR*|PINDEL	.	AGTCTTTGGATCAACAAT	NONE	.	.	hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2	.	.	ENSP00000346359	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	substitution	KIAA0586,frameshift_variant,p.Leu54TyrfsTer4,ENST00000555397,;KIAA0586,frameshift_variant,p.Leu1296TyrfsTer4,ENST00000261244,;KIAA0586,frameshift_variant,p.Leu1328TyrfsTer4,ENST00000423743,;KIAA0586,frameshift_variant,p.Leu1425TyrfsTer4,ENST00000354386,;KIAA0586,frameshift_variant,p.Leu1357TyrfsTer4,ENST00000556134,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	4518-4524	101	100	SUCCESS
ITPK1	3705	.	GRCh37	14	93424588	93424588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	53	104	0	ENST00000267615.6:c.628G>T	p.Val210Phe	p.V210F	ENST00000267615		210	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS9907.1	628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACCACGG	NONE	.	.	PROSITE_profiles:PS50975,hmmpanther:PTHR14217:SF1,hmmpanther:PTHR14217,Pfam_domain:PF05770,Superfamily_domains:SSF56059	.	.	ENSP00000267615	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000267615	Transcript	.	.	ENSG00000100605	6177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.02)	.	ITPK1_HUMAN	ITPK1	HGNC	G3V588_HUMAN,G3V4M9_HUMAN	.	UPI000006F88A	SNV	ITPK1,missense_variant,p.Val210Phe,ENST00000267615,;ITPK1,missense_variant,p.Val210Phe,ENST00000556603,;ITPK1,missense_variant,p.Val228Phe,ENST00000556185,;ITPK1,missense_variant,p.Val168Phe,ENST00000554999,;ITPK1,missense_variant,p.Val210Phe,ENST00000354313,;ITPK1,missense_variant,p.Val91Phe,ENST00000555495,;ITPK1,downstream_gene_variant,,ENST00000555553,;ITPK1,downstream_gene_variant,,ENST00000557309,;ITPK1,downstream_gene_variant,,ENST00000553452,;ITPK1,non_coding_transcript_exon_variant,,ENST00000556954,;ITPK1,non_coding_transcript_exon_variant,,ENST00000553695,;ITPK1,downstream_gene_variant,,ENST00000553655,;	802	104	92	SUCCESS
ATG2B	55102	.	GRCh37	14	96781558	96781558	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	10	258	0	ENST00000359933.4:c.3575C>G	p.Ala1192Gly	p.A1192G	ENST00000359933	NM_018036.5	1192	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS9944.2	3575	MUTECT|MUSE	.	CTACGGCAATG	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	23/42	.	.	.	.	.	.	.	.	.	23/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Ala1192Gly,ENST00000359933,;ATG2B,downstream_gene_variant,,ENST00000488421,;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;	4469	259	238	SUCCESS
HERC2	8924	.	GRCh37	15	28474355	28474355	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	93	313	0	ENST00000261609.7:c.5258A>G	p.Lys1753Arg	p.K1753R	ENST00000261609	NM_004667.5	1753	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10021.1	5258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATTTGGCA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	34/93	.	.	.	.	.	.	.	.	.	34/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Lys1753Arg,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000569335,;	5367	313	224	SUCCESS
GREM1	26585	.	GRCh37	15	33022899	33022899	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs868208266	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	158	0	ENST00000300177.4:c.8G>A	p.Arg3His	p.R3H	ENST00000300177	NM_001191322.1	3	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10029.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGCACAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15283,hmmpanther:PTHR15283:SF3,PIRSF_domain:PIRSF037254	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious_low_confidence(0.05)	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,missense_variant,p.Arg3His,ENST00000300177,;GREM1,missense_variant,p.Arg3His,ENST00000322805,;GREM1,missense_variant,p.Arg3His,ENST00000560830,;GREM1,missense_variant,p.Arg3His,ENST00000560677,;	197	158	122	SUCCESS
TP53BP1	7158	.	GRCh37	15	43724680	43724680	+	synonymous_variant	Silent	SNP	C	C	G	rs952443675	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	104	0	ENST00000382044.4:c.3387G>C	p.Val1129=	p.V1129=	ENST00000382044	NM_001141980.1	1129	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS45250.1	3387	RADIA|MUTECT|MUSE	.	TCTAGCACATC	NONE	.	.	hmmpanther:PTHR15321	.	.	ENSP00000371475	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000382044	Transcript	.	.	ENSG00000067369	11999	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TP53B_HUMAN	TP53BP1	HGNC	B3KVT9_HUMAN	.	UPI0000D720ED	SNV	TP53BP1,synonymous_variant,p.%3D,ENST00000263801,;TP53BP1,synonymous_variant,p.%3D,ENST00000382039,;TP53BP1,synonymous_variant,p.%3D,ENST00000450115,;TP53BP1,synonymous_variant,p.%3D,ENST00000382044,;TP53BP1,upstream_gene_variant,,ENST00000467474,;TP53BP1,downstream_gene_variant,,ENST00000413546,;TP53BP1,3_prime_UTR_variant,,ENST00000411772,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,intron_variant,,ENST00000417342,;	3515	104	72	SUCCESS
TRIM69	140691	.	GRCh37	15	45052006	45052006	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	9	156	0	ENST00000329464.4:c.899del	p.Gly300AlafsTer26	p.G300Afs*26	ENST00000329464	NM_182985.3	299	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS32220.1	897	INDELOCATOR|VARSCANI	.	GAACCTGGGCCA	NONE	.	.	hmmpanther:PTHR24103:SF309,hmmpanther:PTHR24103	.	.	ENSP00000453177	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000559390	Transcript	.	.	ENSG00000185880	17857	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI69_HUMAN	TRIM69	HGNC	.	.	UPI0000246EB4	deletion	TRIM69,frameshift_variant,p.Gly300AlafsTer26,ENST00000329464,;TRIM69,frameshift_variant,p.Gly96AlafsTer26,ENST00000558173,;TRIM69,frameshift_variant,p.Gly63AlafsTer26,ENST00000561043,;TRIM69,frameshift_variant,p.Gly39AlafsTer26,ENST00000561170,;TRIM69,frameshift_variant,p.Gly300AlafsTer26,ENST00000559390,;TRIM69,frameshift_variant,p.Gly96AlafsTer26,ENST00000560442,;TRIM69,frameshift_variant,p.Gly141AlafsTer26,ENST00000338264,;TRIM69,frameshift_variant,p.Gly79AlafsTer26,ENST00000558329,;	1825	156	118	SUCCESS
ANXA2	302	.	GRCh37	15	60678246	60678246	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	166	487	0	ENST00000396024.3:c.29A>T	p.Lys10Met	p.K10M	ENST00000396024	NM_001136015.2	10	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS32256.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCTTGCAC	NONE	.	.	hmmpanther:PTHR10502:SF18,hmmpanther:PTHR10502,Prints_domain:PR00198	.	.	ENSP00000346032	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000332680	Transcript	.	.	ENSG00000182718	537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.01)	.	ANXA2_HUMAN	ANXA2	HGNC	H0YNB8_HUMAN,H0YNA0_HUMAN,H0YN52_HUMAN,H0YN42_HUMAN,H0YN28_HUMAN,H0YMT9_HUMAN,H0YMM1_HUMAN,H0YMD9_HUMAN,H0YMD0_HUMAN,H0YLE2_HUMAN,H0YL33_HUMAN,H0YKZ7_HUMAN,H0YKX9_HUMAN,H0YKV8_HUMAN,H0YKS4_HUMAN,H0YKL9_HUMAN	.	UPI0000366A50	SNV	ANXA2,missense_variant,p.Lys10Met,ENST00000559467,;ANXA2,missense_variant,p.Lys10Met,ENST00000560367,;ANXA2,missense_variant,p.Lys10Met,ENST00000421017,;ANXA2,missense_variant,p.Lys10Met,ENST00000396024,;ANXA2,missense_variant,p.Lys10Met,ENST00000559818,;ANXA2,missense_variant,p.Lys10Met,ENST00000451270,;ANXA2,missense_variant,p.Lys10Met,ENST00000557906,;ANXA2,missense_variant,p.Lys10Met,ENST00000560165,;ANXA2,missense_variant,p.Lys10Met,ENST00000560389,;ANXA2,missense_variant,p.Lys10Met,ENST00000557904,;ANXA2,missense_variant,p.Lys10Met,ENST00000559350,;ANXA2,missense_variant,p.Lys10Met,ENST00000558986,;ANXA2,missense_variant,p.Lys28Met,ENST00000332680,;ANXA2,missense_variant,p.Lys10Met,ENST00000558558,;ANXA2,missense_variant,p.Lys38Met,ENST00000559780,;ANXA2,missense_variant,p.Lys10Met,ENST00000559370,;ANXA2,missense_variant,p.Lys10Met,ENST00000560468,;ANXA2,missense_variant,p.Lys10Met,ENST00000558169,;ANXA2,missense_variant,p.Lys10Met,ENST00000558132,;ANXA2,missense_variant,p.Lys10Met,ENST00000559956,;ANXA2,5_prime_UTR_variant,,ENST00000559113,;ANXA2,5_prime_UTR_variant,,ENST00000558985,;ANXA2,5_prime_UTR_variant,,ENST00000559725,;ANXA2,intron_variant,,ENST00000558998,;ANXA2,intron_variant,,ENST00000560466,;ANXA2,non_coding_transcript_exon_variant,,ENST00000557937,;ANXA2,non_coding_transcript_exon_variant,,ENST00000561445,;ANXA2,missense_variant,p.Lys10Met,ENST00000561022,;ANXA2,missense_variant,p.Lys10Met,ENST00000558503,;ANXA2,missense_variant,p.Lys10Met,ENST00000560014,;ANXA2,non_coding_transcript_exon_variant,,ENST00000560546,;ANXA2,non_coding_transcript_exon_variant,,ENST00000559559,;ANXA2,upstream_gene_variant,,ENST00000504475,;RP11-745A24.1,upstream_gene_variant,,ENST00000475062,;	155	487	365	SUCCESS
VPS13C	54832	.	GRCh37	15	62212341	62212341	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	41	122	0	ENST00000261517.5:c.7402A>T	p.Ser2468Cys	p.S2468C	ENST00000261517	NM_020821.2	2468	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS32257.1	7402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTGGCAT	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	57/85	.	.	.	.	.	.	.	.	.	57/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.353)	.	tolerated(0.06)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Ser2468Cys,ENST00000261517,;VPS13C,missense_variant,p.Ser2468Cys,ENST00000395896,;VPS13C,missense_variant,p.Ser2425Cys,ENST00000249837,;VPS13C,missense_variant,p.Ser2425Cys,ENST00000395898,;VPS13C,upstream_gene_variant,,ENST00000558338,;	7476	122	117	SUCCESS
LACTB	114294	.	GRCh37	15	63419550	63419550	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	78	208	0	ENST00000261893.4:c.616-2A>T		p.X206_splice	ENST00000261893	NM_032857.3	206		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10182.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTAGGTTT	NONE	.	.	.	.	.	ENSP00000261893	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261893	Transcript	.	.	ENSG00000103642	16468	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LACTB_HUMAN	LACTB	HGNC	H0YNN5_HUMAN	.	UPI000013D220	SNV	LACTB,splice_acceptor_variant,,ENST00000261893,;LACTB,splice_acceptor_variant,,ENST00000557972,;LACTB,splice_acceptor_variant,,ENST00000413507,;RPS27L,intron_variant,,ENST00000559763,;LACTB,upstream_gene_variant,,ENST00000559782,;	.	208	192	SUCCESS
KIAA1024	0	.	GRCh37	15	79749293	79749293	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	131	0	ENST00000305428.3:c.804G>A	p.Met268Ile	p.M268I	ENST00000305428	NM_015206.2	268	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS32306.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGGCAGT	NONE	.	.	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2	.	.	ENSP00000307461	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.89)	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,missense_variant,p.Met268Ile,ENST00000305428,;KIAA1024,missense_variant,p.Met268Ile,ENST00000559272,;	879	131	122	SUCCESS
KIAA1024	0	.	GRCh37	15	79749294	79749294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	48	127	1	ENST00000305428.3:c.805G>T	p.Ala269Ser	p.A269S	ENST00000305428	NM_015206.2	269	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32306.1	805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGCAGTG	NONE	.	.	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2	.	.	ENSP00000307461	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.44)	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,missense_variant,p.Ala269Ser,ENST00000305428,;KIAA1024,missense_variant,p.Ala269Ser,ENST00000559272,;	880	128	118	SUCCESS
DNAH3	55567	.	GRCh37	16	21086768	21086768	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	96	241	0	ENST00000261383.3:c.3084T>A		p.X1028_splice	ENST00000261383	NM_017539.1	1028	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10594.1	3084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGTGTC	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	21/62	.	.	.	.	.	.	.	.	.	21/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,synonymous_variant,p.%3D,ENST00000261383,;DNAH3,synonymous_variant,p.%3D,ENST00000415178,;	3084	241	203	SUCCESS
FLYWCH1	84256	.	GRCh37	16	2983205	2983205	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1163174785	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	43	0	ENST00000253928.9:c.871A>C	p.Lys291Gln	p.K291Q	ENST00000253928		291	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS45390.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAAGCGG	NONE	.	.	hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF2,Pfam_domain:PF04500	.	.	ENSP00000399938	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000416288	Transcript	.	.	ENSG00000059122	25404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	deleterious(0.01)	.	FWCH1_HUMAN	FLYWCH1	HGNC	I3L231_HUMAN,I3L0R3_HUMAN	.	UPI00001408BF	SNV	FLYWCH1,missense_variant,p.Lys290Gln,ENST00000416288,;FLYWCH1,missense_variant,p.Lys20Gln,ENST00000344592,;FLYWCH1,missense_variant,p.Lys291Gln,ENST00000399667,;FLYWCH1,missense_variant,p.Lys54Gln,ENST00000573564,;FLYWCH1,missense_variant,p.Lys291Gln,ENST00000253928,;FLYWCH1,upstream_gene_variant,,ENST00000571580,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,downstream_gene_variant,,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000575604,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;FLYWCH1,upstream_gene_variant,,ENST00000574985,;	1211	43	39	SUCCESS
TAOK2	9344	.	GRCh37	16	29990374	29990374	+	synonymous_variant	Silent	SNP	C	C	T	rs770562365	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	97	0	ENST00000308893.4:c.432C>T	p.Ser144=	p.S144=	ENST00000308893	NM_016151.3	144	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10663.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCCCACAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF188,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000310094	.	6/16	.	.	.	.	.	.	.	.	rs770562365	6/16	PASS	ENST00000308893	Transcript	.	.	ENSG00000149930	16835	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAOK2_HUMAN	TAOK2	HGNC	.	.	UPI000013EDDA	SNV	TAOK2,synonymous_variant,p.%3D,ENST00000543033,;TAOK2,synonymous_variant,p.%3D,ENST00000279394,;TAOK2,synonymous_variant,p.%3D,ENST00000308893,;TAOK2,upstream_gene_variant,,ENST00000416441,;	1475	97	75	SUCCESS
SLX4	84464	.	GRCh37	16	3634809	3634809	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs755754734	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	115	0	ENST00000294008.3:c.4700C>G	p.Ser1567Cys	p.S1567C	ENST00000294008	NM_032444.2	1567	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS10506.2	4700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGGAATAC	NONE	.	.	hmmpanther:PTHR21541	.	.	ENSP00000294008	.	13/15	.	.	.	.	.	.	.	.	rs755754734	13/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,missense_variant,p.Ser1567Cys,ENST00000294008,;RP11-461A8.1,downstream_gene_variant,,ENST00000573982,;	5341	115	88	SUCCESS
CREBBP	1387	.	GRCh37	16	3807812	3807812	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	31	0	ENST00000262367.5:c.3607A>T	p.Lys1203Ter	p.K1203*	ENST00000262367	NM_004380.2	1203	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS10509.1	3607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTGCGTC	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Pfam_domain:PF06001	.	.	ENSP00000262367	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,stop_gained,p.Lys1203Ter,ENST00000262367,;CREBBP,stop_gained,p.Lys1165Ter,ENST00000382070,;CREBBP,intron_variant,,ENST00000570939,;	4417	31	45	SUCCESS
ADCY9	115	.	GRCh37	16	4057436	4057436	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775196337	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	40	0	ENST00000294016.3:c.1817A>T	p.Gln606Leu	p.Q606L	ENST00000294016	NM_001116.3	606	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32382.1	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCTGTCCC	NONE	.	.	hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	.	.	ENSP00000294016	.	3/11	.	.	.	.	.	.	.	.	rs775196337	3/11	PASS	ENST00000294016	Transcript	.	.	ENSG00000162104	240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.09)	.	ADCY9_HUMAN	ADCY9	HGNC	.	.	UPI000012887F	SNV	ADCY9,missense_variant,p.Gln606Leu,ENST00000294016,;ADCY9,missense_variant,p.Gln134Leu,ENST00000572288,;ADCY9,non_coding_transcript_exon_variant,,ENST00000575550,;ADCY9,non_coding_transcript_exon_variant,,ENST00000571889,;ADCY9,intron_variant,,ENST00000571467,;	2356	40	27	SUCCESS
LONP2	83752	.	GRCh37	16	48368263	48368263	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	44	123	0	ENST00000285737.4:c.1932A>C	p.Glu644Asp	p.E644D	ENST00000285737	NM_031490.2	644	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS10734.1	1932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAAATGGA	NONE	.	.	HAMAP:MF_03121,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,TIGRFAM_domain:TIGR00763,Pfam_domain:PF05362,PIRSF_domain:PIRSF001174	.	.	ENSP00000285737	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000285737	Transcript	.	.	ENSG00000102910	20598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.88)	.	LONP2_HUMAN	LONP2	HGNC	Q9BU35_HUMAN	.	UPI000000DCD1	SNV	LONP2,missense_variant,p.Glu600Asp,ENST00000535754,;LONP2,missense_variant,p.Glu644Asp,ENST00000285737,;LONP2,missense_variant,p.Glu14Asp,ENST00000565867,;LONP2,missense_variant,p.Glu600Asp,ENST00000416006,;LONP2,3_prime_UTR_variant,,ENST00000566755,;UBA52P8,downstream_gene_variant,,ENST00000498379,;	2025	123	58	SUCCESS
CDH8	1006	.	GRCh37	16	61689606	61689606	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	54	168	0	ENST00000577390.1:c.1674G>A	p.Leu558=	p.L558=	ENST00000577390	NM_001796.4	558	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10802.1	1674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCAAAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000462701	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,synonymous_variant,p.%3D,ENST00000577390,;CDH8,synonymous_variant,p.%3D,ENST00000577730,;CDH8,synonymous_variant,p.%3D,ENST00000299345,;CDH8,non_coding_transcript_exon_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	2629	168	74	SUCCESS
AGRP	181	.	GRCh37	16	67517219	67517219	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	36	127	0	ENST00000290953.2:c.83T>A	p.Met28Lys	p.M28K	ENST00000290953	NM_001138.1	28	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS10839.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCATGGGG	NONE	.	.	hmmpanther:PTHR16551:SF4,hmmpanther:PTHR16551,SMART_domains:SM00792	.	.	ENSP00000290953	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000290953	Transcript	.	.	ENSG00000159723	330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0.02)	.	AGRP_HUMAN	AGRP	HGNC	C6SUN5_HUMAN	.	UPI0000046BA7	SNV	AGRP,missense_variant,p.Met28Lys,ENST00000290953,;ATP6V0D1,upstream_gene_variant,,ENST00000540149,;ATP6V0D1,upstream_gene_variant,,ENST00000290949,;ATP6V0D1,upstream_gene_variant,,ENST00000565835,;RP11-297D21.4,intron_variant,,ENST00000602596,;RP11-297D21.4,upstream_gene_variant,,ENST00000602476,;ATP6V0D1,upstream_gene_variant,,ENST00000561658,;ATP6V0D1,upstream_gene_variant,,ENST00000564788,;ATP6V0D1,upstream_gene_variant,,ENST00000563064,;RP11-297D21.4,downstream_gene_variant,,ENST00000602592,;ATP6V0D1,upstream_gene_variant,,ENST00000561852,;ATP6V0D1,upstream_gene_variant,,ENST00000568298,;ATP6V0D1,upstream_gene_variant,,ENST00000564191,;	383	127	47	SUCCESS
IL34	146433	.	GRCh37	16	70690996	70690996	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	17	42	0	ENST00000288098.2:c.374T>A	p.Leu125Gln	p.L125Q	ENST00000288098	NM_001172772.1	125	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS10895.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGCTGC	NONE	.	.	Pfam_domain:PF15036	.	.	ENSP00000397863	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000429149	Transcript	.	.	ENSG00000157368	28529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IL34_HUMAN	IL34	HGNC	J3QQT3_HUMAN,H3BPB7_HUMAN	.	UPI000004C5C6	SNV	IL34,missense_variant,p.Leu125Gln,ENST00000288098,;IL34,missense_variant,p.Leu125Gln,ENST00000429149,;IL34,missense_variant,p.Leu100Gln,ENST00000566361,;IL34,downstream_gene_variant,,ENST00000563721,;FLJ00418,upstream_gene_variant,,ENST00000597002,;MTSS1L,downstream_gene_variant,,ENST00000338779,;IL34,downstream_gene_variant,,ENST00000569641,;IL34,non_coding_transcript_exon_variant,,ENST00000574181,;	929	42	20	SUCCESS
HYDIN	54768	.	GRCh37	16	71019225	71019225	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs201708128	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	24	1	ENST00000393567.2:c.4195C>T		p.X1399_splice	ENST00000393567	NM_001270974.1	1399	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59269.1	4195	SOMATICSNIPER|VARSCANS	.	AAACAGCTTGA	NONE	byCluster	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	28/86	.	.	.	.	.	.	.	.	rs201708128	28/86	common_in_exac	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;HYDIN,splice_region_variant,,ENST00000393552,;	4346	25	16	SUCCESS
DNAAF1	123872	.	GRCh37	16	84203529	84203529	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	41	121	0	ENST00000378553.5:c.1095T>A	p.Pro365=	p.P365=	ENST00000378553	NM_178452.4	365	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10943.2	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCTCCCGG	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208	.	.	ENSP00000367815	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000378553	Transcript	.	.	ENSG00000154099	30539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAAF1_HUMAN	DNAAF1	HGNC	H3BP51_HUMAN	.	UPI000059D3C9	SNV	DNAAF1,synonymous_variant,p.%3D,ENST00000378553,;DNAAF1,synonymous_variant,p.%3D,ENST00000334315,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,synonymous_variant,p.%3D,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;	1219	121	54	SUCCESS
SDF2	6388	.	GRCh37	17	26982447	26982447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	51	124	0	ENST00000247020.4:c.206A>T	p.Tyr69Phe	p.Y69F	ENST00000247020	NM_006923.3	69	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS11238.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTAACTG	NONE	.	.	PROSITE_profiles:PS50919,hmmpanther:PTHR10050:SF10,hmmpanther:PTHR10050,Gene3D:2.80.10.50,Pfam_domain:PF02815,SMART_domains:SM00472,Superfamily_domains:SSF82109	.	.	ENSP00000247020	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000247020	Transcript	.	.	ENSG00000132581	10675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SDF2_HUMAN	SDF2	HGNC	Q6IBU4_HUMAN	.	UPI000013CC0C	SNV	SDF2,missense_variant,p.Tyr69Phe,ENST00000247020,;SDF2,upstream_gene_variant,,ENST00000587788,;SDF2,non_coding_transcript_exon_variant,,ENST00000592250,;SDF2,non_coding_transcript_exon_variant,,ENST00000587629,;SDF2,non_coding_transcript_exon_variant,,ENST00000588472,;SDF2,non_coding_transcript_exon_variant,,ENST00000587338,;SDF2,intron_variant,,ENST00000585749,;SDF2,missense_variant,p.Tyr50Phe,ENST00000591903,;SDF2,non_coding_transcript_exon_variant,,ENST00000589788,;RPS12P28,upstream_gene_variant,,ENST00000494679,;	505	124	112	SUCCESS
NSRP1	84081	.	GRCh37	17	28507943	28507943	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	95	0	ENST00000247026.5:c.526A>T	p.Lys176Ter	p.K176*	ENST00000247026	NM_032141.3	176	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS11255.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCAAGCAG	NONE	.	.	hmmpanther:PTHR31938,Pfam_domain:PF09745	.	.	ENSP00000247026	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000247026	Transcript	.	.	ENSG00000126653	25305	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSRP1_HUMAN	NSRP1	HGNC	K7ERM9_HUMAN,K7EMD8_HUMAN,K7EK40_HUMAN	.	UPI000006E653	SNV	NSRP1,stop_gained,p.Lys176Ter,ENST00000247026,;NSRP1,stop_gained,p.Lys122Ter,ENST00000580103,;NSRP1,downstream_gene_variant,,ENST00000585881,;NSRP1,downstream_gene_variant,,ENST00000588614,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,non_coding_transcript_exon_variant,,ENST00000577289,;NSRP1,downstream_gene_variant,,ENST00000581048,;NSRP1,3_prime_UTR_variant,,ENST00000475652,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,downstream_gene_variant,,ENST00000584154,;NSRP1,downstream_gene_variant,,ENST00000589608,;NSRP1,downstream_gene_variant,,ENST00000584317,;	589	95	76	SUCCESS
COPRS	55352	.	GRCh37	17	30179202	30179202	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	49	148	0	ENST00000302362.6:c.511A>T	p.Lys171Ter	p.K171*	ENST00000302362	NM_018405.3	171	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS11268.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTTGGAAT	NONE	.	.	Pfam_domain:PF15340	.	.	ENSP00000304327	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302362	Transcript	.	.	ENSG00000172301	28848	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPRS_HUMAN	COPRS	HGNC	J3QRX6_HUMAN	.	UPI0000070409	SNV	COPRS,stop_gained,p.Lys159Ter,ENST00000378634,;COPRS,stop_gained,p.Lys171Ter,ENST00000302362,;COPRS,downstream_gene_variant,,ENST00000579741,;COPRS,3_prime_UTR_variant,,ENST00000496655,;COPRS,downstream_gene_variant,,ENST00000579984,;	649	148	128	SUCCESS
GAST	2520	.	GRCh37	17	39871711	39871711	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1362342224	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	43	0	ENST00000329402.3:c.23T>C	p.Val8Ala	p.V8A	ENST00000329402	NM_000805.4	8	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11404.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGTGCTGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19309:SF0,hmmpanther:PTHR19309,Pfam_domain:PF00918	.	.	ENSP00000331358	.	2/3	.	.	.	.	.	.	.	.	COSM3819580	2/3	PASS	ENST00000329402	Transcript	.	.	ENSG00000184502	4164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated_low_confidence(0.54)	1	GAST_HUMAN	GAST	HGNC	.	.	UPI000012B0F4	SNV	GAST,missense_variant,p.Val8Ala,ENST00000329402,;JUP,intron_variant,,ENST00000540235,;HAP1,downstream_gene_variant,,ENST00000442364,;HAP1,downstream_gene_variant,,ENST00000455021,;HAP1,downstream_gene_variant,,ENST00000458656,;RNA5SP442,upstream_gene_variant,,ENST00000365050,;	90	43	33	SUCCESS
ATXN7L3	56970	.	GRCh37	17	42271987	42271987	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	57	0	ENST00000389384.4:c.793A>T	p.Ser265Cys	p.S265C	ENST00000389384	NM_001098833.1	265	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS45697.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTGTCAG	NONE	.	.	hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF6	.	.	ENSP00000397259	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000454077	Transcript	.	.	ENSG00000087152	25416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.02)	.	AT7L3_HUMAN	ATXN7L3	HGNC	K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN	.	UPI00001613AC	SNV	ATXN7L3,missense_variant,p.Ser104Cys,ENST00000591295,;ATXN7L3,missense_variant,p.Ser265Cys,ENST00000389384,;ATXN7L3,missense_variant,p.Ser265Cys,ENST00000587097,;ATXN7L3,missense_variant,p.Ser272Cys,ENST00000454077,;ATXN7L3,missense_variant,p.Ser47Cys,ENST00000590537,;TMUB2,downstream_gene_variant,,ENST00000589856,;ATXN7L3,downstream_gene_variant,,ENST00000589805,;TMUB2,downstream_gene_variant,,ENST00000319511,;TMUB2,downstream_gene_variant,,ENST00000587630,;TMUB2,downstream_gene_variant,,ENST00000357984,;TMUB2,downstream_gene_variant,,ENST00000587172,;TMUB2,downstream_gene_variant,,ENST00000446571,;TMUB2,downstream_gene_variant,,ENST00000589785,;TMUB2,downstream_gene_variant,,ENST00000590235,;ATXN7L3,downstream_gene_variant,,ENST00000590169,;TMUB2,downstream_gene_variant,,ENST00000592825,;TMUB2,downstream_gene_variant,,ENST00000587989,;TMUB2,downstream_gene_variant,,ENST00000538716,;TMUB2,downstream_gene_variant,,ENST00000589184,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000593073,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000586688,;ATXN7L3,downstream_gene_variant,,ENST00000587022,;ATXN7L3,downstream_gene_variant,,ENST00000591807,;TMUB2,downstream_gene_variant,,ENST00000588413,;ATXN7L3,downstream_gene_variant,,ENST00000589607,;TMUB2,downstream_gene_variant,,ENST00000587775,;TMUB2,downstream_gene_variant,,ENST00000587326,;	814	57	39	SUCCESS
COL1A1	1277	.	GRCh37	17	48263006	48263006	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	83	0	ENST00000225964.5:c.4252C>G	p.His1418Asp	p.H1418D	ENST00000225964	NM_000088.3	1418	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS11561.1	4252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTGACTCT	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01410,SMART_domains:SM00038	.	.	ENSP00000225964	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,missense_variant,p.His1418Asp,ENST00000225964,;HILS1,upstream_gene_variant,,ENST00000504307,;COL1A1,downstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;	4371	83	65	SUCCESS
NXN	64359	.	GRCh37	17	722716	722716	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	38	98	0	ENST00000336868.3:c.783C>G	p.Ala261=	p.A261=	ENST00000336868	NM_022463.4	261	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS10998.1	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGGGCCTC	BUFFER|p.S264S|c.792G>A|3	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR13871,Gene3D:3.40.30.10,Pfam_domain:PF13905,Superfamily_domains:SSF52833	.	.	ENSP00000337443	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000336868	Transcript	.	.	ENSG00000167693	18008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXN_HUMAN	NXN	HGNC	.	.	UPI00001B31EB	SNV	NXN,synonymous_variant,p.%3D,ENST00000575801,;NXN,synonymous_variant,p.%3D,ENST00000571684,;NXN,synonymous_variant,p.%3D,ENST00000537628,;NXN,synonymous_variant,p.%3D,ENST00000336868,;NXN,synonymous_variant,p.%3D,ENST00000538650,;NXN,downstream_gene_variant,,ENST00000571338,;NXN,downstream_gene_variant,,ENST00000577098,;NXN,non_coding_transcript_exon_variant,,ENST00000575455,;	875	98	47	SUCCESS
MFSD11	79157	.	GRCh37	17	74737121	74737121	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs773251685	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	27	80	0	ENST00000336509.4:c.235A>C	p.Met79Leu	p.M79L	ENST00000336509	NM_001242533.1	79	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS11750.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTATGTTT	NONE	byFrequency	.	hmmpanther:PTHR23294,hmmpanther:PTHR23294:SF7,Gene3D:1.20.1250.20,Pfam_domain:PF05978,Superfamily_domains:SSF103473	.	.	ENSP00000464932	.	3/13	.	.	.	.	.	.	.	.	rs773251685	3/13	PASS	ENST00000588460	Transcript	.	.	ENSG00000092931	25458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	tolerated(0.05)	.	MFS11_HUMAN	MFSD11	HGNC	K7ESK9_HUMAN,K7ELU3_HUMAN	.	UPI0000073F31	SNV	MFSD11,missense_variant,p.Met79Leu,ENST00000336509,;MFSD11,missense_variant,p.Met79Leu,ENST00000593181,;MFSD11,missense_variant,p.Met79Leu,ENST00000586622,;MFSD11,missense_variant,p.Met79Leu,ENST00000587661,;MFSD11,missense_variant,p.Met79Leu,ENST00000588460,;MFSD11,missense_variant,p.Met79Leu,ENST00000355954,;MFSD11,missense_variant,p.Met79Leu,ENST00000590514,;SRSF2,upstream_gene_variant,,ENST00000392485,;SRSF2,upstream_gene_variant,,ENST00000358156,;SRSF2,upstream_gene_variant,,ENST00000583836,;MFSD11,downstream_gene_variant,,ENST00000591864,;SRSF2,upstream_gene_variant,,ENST00000508921,;RP11-318A15.7,downstream_gene_variant,,ENST00000587459,;MFSD11,downstream_gene_variant,,ENST00000586689,;MFSD11,downstream_gene_variant,,ENST00000590393,;SRSF2,upstream_gene_variant,,ENST00000359995,;MIR636,upstream_gene_variant,,ENST00000384825,;MFSD11,missense_variant,p.Met79Leu,ENST00000588031,;MFSD11,missense_variant,p.Met60Leu,ENST00000588768,;MFSD11,missense_variant,p.Met79Leu,ENST00000588670,;SRSF2,upstream_gene_variant,,ENST00000582449,;MFSD11,upstream_gene_variant,,ENST00000585584,;SRSF2,upstream_gene_variant,,ENST00000592676,;SRSF2,upstream_gene_variant,,ENST00000452355,;SRSF2,upstream_gene_variant,,ENST00000585202,;	2277	80	55	SUCCESS
TP53	7157	.	GRCh37	17	7577595	7577598	+	frameshift_variant	Frame_Shift_Del	DEL	CAGT	CAGT	-	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	CAGT	CAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	7	19	83	0	ENST00000269305.4:c.683_686del	p.Asp228ValfsTer18	p.D228Vfs*18	ENST00000269305	NM_001126112.2	228	gACTGt/gt	0	.	.	.	.	.	-	DC/X	protein_coding	YES	CCDS11118.1	683-686	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGTACAGTCAGAG	CODON|p.0?|c.1_1182del1182|6,CODON|p.C229fs*10|c.686_687delGT|9,CODON|p.C229fs*10|c.686_687delGT|3,CODON|p.C229fs*10|c.686_687delGT|3,CODON|p.C136fs*10|c.407_408delGT|3,CODON|p.T230P|c.688A>C|4,CODON|p.C229*|c.687T>A|3,CODON|p.C229fs*10|c.685_686delTG|5,CODON|p.D228D|c.684C>T|3,CODON|p.D228E|c.684C>G|4,BUFFER|p.H233L|c.698A>T|3,BUFFER|p.H233Y|c.697C>T|6,BUFFER|p.I232T|c.695T>C|8,BUFFER|p.I232S|c.695T>G|5,BUFFER|p.I232S|c.695T>G|5,BUFFER|p.I232N|c.695T>A|6,BUFFER|p.I139S|c.416T>G|5,BUFFER|p.I232S|c.695T>G|7,BUFFER|p.I232F|c.694A>T|11,BUFFER|p.I232V|c.694A>G|5,BUFFER|p.I232F|c.694A>T|4,BUFFER|p.I232F|c.694A>T|4,BUFFER|p.I139F|c.415A>T|4,BUFFER|p.T231T|c.693C>T|5,BUFFER|p.T231T|c.693C>A|3,BUFFER|p.T231I|c.692C>T|3,BUFFER|p.T231S|c.691A>T|3,BUFFER|p.T230I|c.689C>T|9,BUFFER|p.D228G|c.683A>G|5,BUFFER|p.D228Y|c.682G>T|3,BUFFER|p.D228N|c.682G>A|6,BUFFER|p.S227F|c.680C>T|8,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.S134P|c.400T>C|3,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.G226D|c.677G>A|5,BUFFER|p.G226V|c.677G>T|4,BUFFER|p.V225A|c.674T>C|3,BUFFER|p.?|c.394-1G>A|7,BUFFER|p.?|c.673-1G>A|15,BUFFER|p.?|c.673-1G>T|3,BUFFER|p.?|c.673-1G>A|7,BUFFER|p.?|c.394-1G>T|3,BUFFER|p.?|c.673-1G>C|3,BUFFER|p.?|c.673-1G>T|6,BUFFER|p.?|c.673-1G>A|7,BUFFER|p.?|c.673-1G>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Asp228ValfsTer18,ENST00000413465,;TP53,frameshift_variant,p.Asp228ValfsTer18,ENST00000420246,;TP53,frameshift_variant,p.Asp228ValfsTer18,ENST00000269305,;TP53,frameshift_variant,p.Asp96ValfsTer18,ENST00000509690,;TP53,frameshift_variant,p.Asp228ValfsTer18,ENST00000359597,;TP53,frameshift_variant,p.Asp135ValfsTer18,ENST00000514944,;TP53,frameshift_variant,p.Asp228ValfsTer18,ENST00000445888,;TP53,frameshift_variant,p.Asp228ValfsTer18,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	873-876	83	26	SUCCESS
AZI1	0	.	GRCh37	17	79167868	79167868	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	143	0	ENST00000269392.4:c.2188A>T	p.Lys730Ter	p.K730*	ENST00000269392	NM_014984.2	730	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45808.1	2179	MUTECT|MUSE	.	GCTCTTGAGCC	NONE	.	.	hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1	.	.	ENSP00000393583	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000450824	Transcript	.	.	ENSG00000141577	29511	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AZI1_HUMAN	AZI1	HGNC	.	.	UPI00002017B6	SNV	AZI1,stop_gained,p.Lys166Ter,ENST00000573053,;AZI1,stop_gained,p.Lys730Ter,ENST00000269392,;AZI1,stop_gained,p.Lys727Ter,ENST00000450824,;AZI1,stop_gained,p.Lys727Ter,ENST00000374782,;AZI1,stop_gained,p.Lys730Ter,ENST00000575907,;AZI1,upstream_gene_variant,,ENST00000571292,;AZI1,upstream_gene_variant,,ENST00000570817,;RP11-455O6.2,upstream_gene_variant,,ENST00000571085,;	2358	143	120	SUCCESS
ALOX12B	242	.	GRCh37	17	7983455	7983455	+	intron_variant	Intron	SNP	T	T	A	rs781429156	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	31	120	0	ENST00000319144.4:c.754+98A>T		p.*252*	ENST00000319144	NM_001139.2	46		0	.	.	.	.	.	A	C/S	protein_coding	YES	.	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTGCCTC	NONE	.	.	.	.	.	ENSP00000382345	.	2/2	.	.	.	.	.	.	.	.	rs781429156	2/2	PASS	ENST00000399413	Transcript	.	.	ENSG00000214999	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	YQ037_HUMAN	AC129492.6	Clone_based_vega_gene	.	.	UPI0000D4AA7B	SNV	AC129492.6,missense_variant,p.Cys46Ser,ENST00000399413,;ALOX12B,intron_variant,,ENST00000319144,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000584116,;ALOX12B,upstream_gene_variant,,ENST00000583276,;	376	120	38	SUCCESS
ANKRD20A5P	440482	.	GRCh37	18	14184268	14184268	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	71	0	ENST00000431648.3:n.492+167A>T		p.*164*	ENST00000431648				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	GGAGCATTAAA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000431648	Transcript	.	.	ENSG00000186481	33833	.	.	MODIFIER	3/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ANKRD20A5P	HGNC	.	.	.	SNV	ANKRD20A5P,non_coding_transcript_exon_variant,,ENST00000581935,;ANKRD20A5P,intron_variant,,ENST00000581363,;ANKRD20A5P,intron_variant,,ENST00000581181,;ANKRD20A5P,non_coding_transcript_exon_variant,,ENST00000399814,;ANKRD20A5P,intron_variant,,ENST00000431648,;	.	71	51	SUCCESS
SMCHD1	23347	.	GRCh37	18	2762178	2762178	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	44	163	0	ENST00000320876.6:c.4510A>T	p.Asn1504Tyr	p.N1504Y	ENST00000320876	NM_015295.2	1504	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS45822.1	4510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAAATGTT	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	36/48	.	.	.	.	.	.	.	.	.	36/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.24)	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,missense_variant,p.Asn1504Tyr,ENST00000320876,;SMCHD1,missense_variant,p.Asn1504Tyr,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Asn975Tyr,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000583344,;	4848	163	167	SUCCESS
ASXL3	80816	.	GRCh37	18	31319940	31319940	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	109	0	ENST00000269197.5:c.2572A>G	p.Thr858Ala	p.T858A	ENST00000269197	NM_030632.1	858	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS45847.1	2572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTACTGAA	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Thr858Ala,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	2572	109	97	SUCCESS
ZNF396	252884	.	GRCh37	18	32953553	32953553	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	69	0	ENST00000589332.1:c.429A>G	p.Gly143=	p.G143=	ENST00000589332		143	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11913.1	429	MUTECT|MUSE	.	CTTCGTCCAAA	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF26,SMART_domains:SM00431	.	.	ENSP00000302310	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000306346	Transcript	.	.	ENSG00000186496	18824	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN396_HUMAN	ZNF396	HGNC	K7ERR8_HUMAN,K7EK38_HUMAN	.	UPI000013C36B	SNV	ZNF396,synonymous_variant,p.%3D,ENST00000586687,;ZNF396,synonymous_variant,p.%3D,ENST00000589332,;ZNF396,synonymous_variant,p.%3D,ENST00000306346,;ZNF396,downstream_gene_variant,,ENST00000587422,;ZNF396,downstream_gene_variant,,ENST00000585522,;ZNF396,non_coding_transcript_exon_variant,,ENST00000586585,;	561	69	67	SUCCESS
EPG5	57724	.	GRCh37	18	43497668	43497668	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764534620	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	68	188	0	ENST00000282041.5:c.3215A>T	p.Gln1072Leu	p.Q1072L	ENST00000282041	NM_020964.2	1072	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11926.2	3215	RADIA|MUTECT|MUSE	.	AATACTGGCAA	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	17/44	.	.	.	.	.	.	.	.	rs764534620,COSM1471123	17/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.888)	.	deleterious(0.03)	0,1	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,missense_variant,p.Gln1072Leu,ENST00000282041,;EPG5,upstream_gene_variant,,ENST00000586655,;EPG5,upstream_gene_variant,,ENST00000585906,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;EPG5,upstream_gene_variant,,ENST00000587884,;EPG5,upstream_gene_variant,,ENST00000592272,;EPG5,upstream_gene_variant,,ENST00000590884,;	3250	188	166	SUCCESS
KEAP1	9817	.	GRCh37	19	10610421	10610421	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1425671494	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	33	84	0	ENST00000171111.5:c.289A>T	p.Lys97Ter	p.K97*	ENST00000171111	NM_203500.1	97	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS12239.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTGTGGG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,stop_gained,p.Lys97Ter,ENST00000591419,;KEAP1,stop_gained,p.Lys97Ter,ENST00000591039,;KEAP1,stop_gained,p.Lys97Ter,ENST00000393623,;KEAP1,stop_gained,p.Lys97Ter,ENST00000171111,;KEAP1,stop_gained,p.Lys97Ter,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	837	84	45	SUCCESS
YIPF2	78992	.	GRCh37	19	11034009	11034009	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs151256467	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	101	0	ENST00000253031.2:c.909C>G	p.Ile303Met	p.I303M	ENST00000253031	NM_024029.3	303	atC/atG	0	A:0.0005	.	.	.	.	C	I/M	protein_coding	YES	CCDS12251.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGATGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12822:SF3,hmmpanther:PTHR12822	.	A:0	ENSP00000466055	.	9/10	.	.	.	.	.	.	.	.	rs151256467,COSM1303964	9/10	PASS	ENST00000586748	Transcript	.	.	ENSG00000130733	28476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.124)	.	tolerated(0.11)	0,1	YIPF2_HUMAN	YIPF2	HGNC	K7ERW0_HUMAN,K7EM92_HUMAN,K7EL70_HUMAN,K7EJN9_HUMAN	.	UPI00000729B3	SNV	YIPF2,missense_variant,p.Ile303Met,ENST00000586748,;YIPF2,missense_variant,p.Ile66Met,ENST00000591872,;YIPF2,missense_variant,p.Ser160Trp,ENST00000589971,;YIPF2,missense_variant,p.Ile303Met,ENST00000253031,;YIPF2,missense_variant,p.Ile264Met,ENST00000590329,;YIPF2,missense_variant,p.Ile156Met,ENST00000592646,;YIPF2,downstream_gene_variant,,ENST00000585858,;YIPF2,downstream_gene_variant,,ENST00000586575,;CARM1,downstream_gene_variant,,ENST00000327064,;YIPF2,downstream_gene_variant,,ENST00000587943,;YIPF2,downstream_gene_variant,,ENST00000588347,;CARM1,downstream_gene_variant,,ENST00000344150,;CARM1,downstream_gene_variant,,ENST00000586298,;YIPF2,downstream_gene_variant,,ENST00000588962,;CARM1,downstream_gene_variant,,ENST00000586221,;CARM1,downstream_gene_variant,,ENST00000592516,;YIPF2,downstream_gene_variant,,ENST00000592505,;CARM1,downstream_gene_variant,,ENST00000590699,;CARM1,downstream_gene_variant,,ENST00000586508,;	1082	101	58	SUCCESS
RFX1	5989	.	GRCh37	19	14104453	14104453	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774490241	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	6	112	0	ENST00000254325.4:c.203C>T	p.Pro68Leu	p.P68L	ENST00000254325	NM_002918.4	68	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12301.1	203	MUTECT|MUSE	.	CACCCGGTGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000254325	.	2/21	.	.	.	.	.	.	.	.	rs774490241	2/21	PASS	ENST00000254325	Transcript	.	.	ENSG00000132005	9982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.204)	.	deleterious_low_confidence(0)	.	RFX1_HUMAN	RFX1	HGNC	.	.	UPI000013CE29	SNV	RFX1,missense_variant,p.Pro68Leu,ENST00000254325,;RFX1,missense_variant,p.Pro68Leu,ENST00000588885,;RFX1,downstream_gene_variant,,ENST00000586913,;RFX1,non_coding_transcript_exon_variant,,ENST00000589760,;RFX1,non_coding_transcript_exon_variant,,ENST00000589239,;RFX1,intron_variant,,ENST00000589937,;	438	112	98	SUCCESS
SYDE1	85360	.	GRCh37	19	15221086	15221086	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	44	0	ENST00000342784.2:c.1002T>A	p.Leu334=	p.L334=	ENST00000342784	NM_033025.4	334	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12324.1	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTTGCGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,synonymous_variant,p.%3D,ENST00000600440,;SYDE1,synonymous_variant,p.%3D,ENST00000342784,;SYDE1,5_prime_UTR_variant,,ENST00000600252,;ILVBL,downstream_gene_variant,,ENST00000534378,;SYDE1,upstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000263383,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000534806,;	1033	44	47	SUCCESS
OR10H1	26539	.	GRCh37	19	15918741	15918741	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	95	1	ENST00000334920.2:c.107T>A	p.Leu36Gln	p.L36Q	ENST00000334920	NM_013940.2	36	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12335.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACAGGTAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335596	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334920	Transcript	.	.	ENSG00000186723	8172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,missense_variant,p.Leu36Gln,ENST00000334920,;	196	96	86	SUCCESS
ZNF43	7594	.	GRCh37	19	21991782	21991782	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	65	1	ENST00000354959.4:c.1057C>A	p.Gln353Lys	p.Q353K	ENST00000354959	NM_003423.3	353	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS12413.2	1057	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAACTGGTTAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347045	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.475)	.	tolerated(0.3)	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,missense_variant,p.Gln347Lys,ENST00000595461,;ZNF43,missense_variant,p.Gln353Lys,ENST00000354959,;ZNF43,missense_variant,p.Gln347Lys,ENST00000594012,;ZNF43,missense_variant,p.Gln347Lys,ENST00000598381,;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;	1227	66	53	SUCCESS
RHPN2	85415	.	GRCh37	19	33470954	33470954	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	140	0	ENST00000254260.3:c.2009A>C	p.Lys670Thr	p.K670T	ENST00000254260	NM_033103.4	670	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS12427.1	2009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTTCTTG	NONE	.	.	hmmpanther:PTHR23031:SF5,hmmpanther:PTHR23031	.	.	ENSP00000254260	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000254260	Transcript	.	.	ENSG00000131941	19974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	deleterious(0.01)	.	RHPN2_HUMAN	RHPN2	HGNC	B4DUS7_HUMAN,B3KX27_HUMAN	.	UPI00000747A3	SNV	RHPN2,missense_variant,p.Lys519Thr,ENST00000400226,;RHPN2,missense_variant,p.Lys670Thr,ENST00000254260,;C19orf40,downstream_gene_variant,,ENST00000588258,;C19orf40,downstream_gene_variant,,ENST00000590179,;C19orf40,downstream_gene_variant,,ENST00000590281,;C19orf40,downstream_gene_variant,,ENST00000589646,;RHPN2,non_coding_transcript_exon_variant,,ENST00000588683,;C19orf40,downstream_gene_variant,,ENST00000591791,;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,non_coding_transcript_exon_variant,,ENST00000592247,;C19orf40,downstream_gene_variant,,ENST00000254262,;	2045	140	104	SUCCESS
RYR1	6261	.	GRCh37	19	38973749	38973749	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	79	0	ENST00000359596.3:c.4703A>T	p.Gln1568Leu	p.Q1568L	ENST00000359596		1568	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33011.1	4703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCAGAAGG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF00622,SMART_domains:SM00449	.	.	ENSP00000352608	.	32/106	.	.	.	.	.	.	.	.	.	32/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gln1568Leu,ENST00000355481,;RYR1,missense_variant,p.Gln1568Leu,ENST00000360985,;RYR1,missense_variant,p.Gln1568Leu,ENST00000359596,;	4703	79	74	SUCCESS
DEDD2	162989	.	GRCh37	19	42713986	42713986	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1568447720	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	105	0	ENST00000595337.1:c.455C>T	p.Pro152Leu	p.P152L	ENST00000595337	NM_001270614.1	152	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12597.1	455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGGGGAG	NONE	.	.	hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF1	.	.	ENSP00000470082	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000595337	Transcript	.	.	ENSG00000160570	24450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.22)	.	DEDD2_HUMAN	DEDD2	HGNC	M0QYK9_HUMAN	.	UPI0000046657	SNV	DEDD2,missense_variant,p.Pro147Leu,ENST00000336034,;DEDD2,missense_variant,p.Pro152Leu,ENST00000595337,;DEDD2,missense_variant,p.Pro152Leu,ENST00000596251,;DEDD2,missense_variant,p.Pro152Leu,ENST00000598727,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593804,;DEDD2,non_coding_transcript_exon_variant,,ENST00000601135,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602075,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593561,;DEDD2,non_coding_transcript_exon_variant,,ENST00000600559,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602201,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598415,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598090,;	543	105	91	SUCCESS
TMIGD2	126259	.	GRCh37	19	4294634	4294634	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	27	71	1	ENST00000301272.2:c.492T>A	p.Ala164=	p.A164=	ENST00000301272	NM_144615.2	164	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12126.1	492	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATCGCAGCCAC	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000301272	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000301272	Transcript	.	.	ENSG00000167664	28324	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMIG2_HUMAN	TMIGD2	HGNC	.	.	UPI000013E6F4	SNV	TMIGD2,synonymous_variant,p.%3D,ENST00000301272,;TMIGD2,synonymous_variant,p.%3D,ENST00000595645,;TMIGD2,synonymous_variant,p.%3D,ENST00000600114,;TMIGD2,intron_variant,,ENST00000600349,;SHD,downstream_gene_variant,,ENST00000543264,;SHD,downstream_gene_variant,,ENST00000599689,;SHD,downstream_gene_variant,,ENST00000597466,;SHD,downstream_gene_variant,,ENST00000593383,;	538	72	35	SUCCESS
ZNF226	7769	.	GRCh37	19	44674186	44674186	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	68	0	ENST00000337433.5:c.-46-2A>T		p.X16_splice	ENST00000337433	NM_001032373.1	16		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46102.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTAGTTCA	NONE	.	.	.	.	.	ENSP00000465121	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	HIGH	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,splice_acceptor_variant,,ENST00000585560,;ZNF226,splice_acceptor_variant,,ENST00000585678,;ZNF226,splice_acceptor_variant,,ENST00000590089,;ZNF226,splice_acceptor_variant,,ENST00000588127,;ZNF226,splice_acceptor_variant,,ENST00000413984,;ZNF226,splice_acceptor_variant,,ENST00000588742,;ZNF226,splice_acceptor_variant,,ENST00000589160,;ZNF226,splice_acceptor_variant,,ENST00000300823,;ZNF226,splice_acceptor_variant,,ENST00000337433,;ZNF226,splice_acceptor_variant,,ENST00000586203,;ZNF226,splice_acceptor_variant,,ENST00000588883,;ZNF226,splice_acceptor_variant,,ENST00000586914,;ZNF226,splice_acceptor_variant,,ENST00000590467,;ZNF226,splice_acceptor_variant,,ENST00000588795,;ZNF226,splice_acceptor_variant,,ENST00000454662,;ZNF226,splice_acceptor_variant,,ENST00000590578,;ZNF226,splice_region_variant,,ENST00000586286,;ZNF226,splice_region_variant,,ENST00000590524,;ZNF226,non_coding_transcript_exon_variant,,ENST00000590759,;	.	68	56	SUCCESS
CEACAM16	388551	.	GRCh37	19	45204686	45204686	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	59	0	ENST00000405314.2:c.-41C>T		p.*14*	ENST00000405314				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54278.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACTTCAA	NONE	.	.	.	.	.	ENSP00000466561	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000587331	Transcript	1	.	ENSG00000213892	31948	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEA16_HUMAN	CEACAM16	HGNC	.	.	UPI00001D8176	SNV	CEACAM16,5_prime_UTR_variant,,ENST00000587331,;CEACAM16,5_prime_UTR_variant,,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	175	59	40	SUCCESS
EXOC3L2	90332	.	GRCh37	19	45731442	45731442	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	117	0	ENST00000252482.3:c.173T>A	p.Leu58Gln	p.L58Q	ENST00000252482		58	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12657.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCAGGCTG	NONE	.	.	Pfam_domain:PF06046,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF7	.	.	ENSP00000400713	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000413988	Transcript	.	.	ENSG00000130201	30162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	EX3L2_HUMAN	EXOC3L2	HGNC	.	.	UPI000013CD66	SNV	EXOC3L2,missense_variant,p.Leu58Gln,ENST00000252482,;EXOC3L2,missense_variant,p.Leu58Gln,ENST00000413988,;MARK4,intron_variant,,ENST00000587566,;	214	117	79	SUCCESS
IGFL1	374918	.	GRCh37	19	46733033	46733033	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	78	0	ENST00000437936.1:c.2T>A	p.Met1?	p.M1?	ENST00000437936	NM_198541.1	1	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS46123.1	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATGGCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000415823	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000437936	Transcript	.	.	ENSG00000188293	24093	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	IGFL1_HUMAN	IGFL1	HGNC	.	.	UPI000003C715	SNV	IGFL1,start_lost,p.Met1?,ENST00000437936,;AC006262.10,intron_variant,,ENST00000597337,;	25	78	65	SUCCESS
CCDC8	83987	.	GRCh37	19	46916455	46916455	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	54	130	0	ENST00000307522.3:c.-388T>A		p.*130*	ENST00000307522	NM_032040.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12685.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCAAGTCC	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,5_prime_UTR_variant,,ENST00000307522,;	387	130	110	SUCCESS
DKKL1	27120	.	GRCh37	19	49868854	49868854	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	82	0	ENST00000221498.2:c.272A>T	p.Gln91Leu	p.Q91L	ENST00000221498	NM_014419.3	91	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12762.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCAGGAGC	NONE	.	.	.	.	.	ENSP00000221498	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000221498	Transcript	.	.	ENSG00000104901	16528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious_low_confidence(0.03)	.	DKKL1_HUMAN	DKKL1	HGNC	M0R2X7_HUMAN,M0QZP1_HUMAN,M0QYJ2_HUMAN	.	UPI00000012EC	SNV	DKKL1,missense_variant,p.Gln16Leu,ENST00000597873,;DKKL1,missense_variant,p.Gln91Leu,ENST00000597546,;DKKL1,missense_variant,p.Gln91Leu,ENST00000221498,;DKKL1,missense_variant,p.Gln16Leu,ENST00000596402,;DKKL1,intron_variant,,ENST00000594268,;DKKL1,intron_variant,,ENST00000598682,;TEAD2,upstream_gene_variant,,ENST00000311227,;TEAD2,upstream_gene_variant,,ENST00000598810,;TEAD2,upstream_gene_variant,,ENST00000539846,;TEAD2,upstream_gene_variant,,ENST00000596757,;TEAD2,upstream_gene_variant,,ENST00000593945,;TEAD2,upstream_gene_variant,,ENST00000601519,;AC010524.2,downstream_gene_variant,,ENST00000599433,;	677	82	74	SUCCESS
CCDC155	0	.	GRCh37	19	49901341	49901341	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	46	139	0	ENST00000447857.3:c.570T>A	p.Ala190=	p.A190=	ENST00000447857	NM_144688.4	190	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46140.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTGAGGA	NONE	.	.	hmmpanther:PTHR10159:SF289,hmmpanther:PTHR10159,Pfam_domain:PF14662	.	.	ENSP00000404220	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000447857	Transcript	.	.	ENSG00000161609	26520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KASH5_HUMAN	CCDC155	HGNC	M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN	.	UPI000006F690	SNV	CCDC155,synonymous_variant,p.%3D,ENST00000600570,;CCDC155,synonymous_variant,p.%3D,ENST00000594043,;CCDC155,synonymous_variant,p.%3D,ENST00000595828,;CCDC155,synonymous_variant,p.%3D,ENST00000447857,;CCDC155,downstream_gene_variant,,ENST00000594905,;CCDC155,downstream_gene_variant,,ENST00000598730,;CCDC155,downstream_gene_variant,,ENST00000593725,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596771,;CCDC155,non_coding_transcript_exon_variant,,ENST00000593631,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596130,;CCDC155,downstream_gene_variant,,ENST00000596862,;CCDC155,downstream_gene_variant,,ENST00000600895,;CCDC155,downstream_gene_variant,,ENST00000597993,;	775	139	109	SUCCESS
SIGLEC11	114132	.	GRCh37	19	50463581	50463581	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	42	170	0	ENST00000447370.2:c.558T>A	p.Cys186Ter	p.C186*	ENST00000447370	NM_052884.2	186	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS12790.2	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGACATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Pfam_domain:PF08205,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000412361	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000447370	Transcript	.	.	ENSG00000161640	15622	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIG11_HUMAN	SIGLEC11	HGNC	H7BZU6_HUMAN	.	UPI00018131F5	SNV	SIGLEC11,stop_gained,p.Cys186Ter,ENST00000426971,;SIGLEC11,stop_gained,p.Cys186Ter,ENST00000447370,;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	649	171	166	SUCCESS
CELSR2	1952	.	GRCh37	1	109812061	109812061	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs368719508	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	60	0	ENST00000271332.3:c.6828del	p.Ile2277SerfsTer7	p.I2277Sfs*7	ENST00000271332	NM_001408.2	2276	ccG/cc	0	A:0.0002	.	.	.	.	-	P/X	protein_coding	YES	CCDS796.1	6828	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGCCCGATCAT	NONE	byCluster	.	hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Pfam_domain:PF12003	.	A:0	ENSP00000271332	.	21/34	.	.	.	.	.	.	.	.	rs368719508	21/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	deletion	CELSR2,frameshift_variant,p.Ile2277SerfsTer7,ENST00000271332,;CELSR2,upstream_gene_variant,,ENST00000489018,;CELSR2,upstream_gene_variant,,ENST00000498157,;CELSR2,downstream_gene_variant,,ENST00000459940,;	6889	60	59	SUCCESS
MYBPHL	343263	.	GRCh37	1	109839480	109839480	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	98	0	ENST00000357155.1:c.655G>A	p.Val219Ile	p.V219I	ENST00000357155	NM_001265613.1	219	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS30793.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGACACGGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF40,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014	.	.	ENSP00000349678	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000357155	Transcript	.	.	ENSG00000221986	30434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.415)	.	tolerated(0.13)	.	MBPHL_HUMAN	MYBPHL	HGNC	.	.	UPI000022B031	SNV	MYBPHL,missense_variant,p.Val219Ile,ENST00000357155,;MYBPHL,intron_variant,,ENST00000477962,;MYBPHL,upstream_gene_variant,,ENST00000489706,;	705	98	104	SUCCESS
EPS8L3	79574	.	GRCh37	1	110294361	110294361	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs549152937	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	54	0	ENST00000361965.4:c.1478C>A	p.Ala493Glu	p.A493E	ENST00000361965		493	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS815.1	1481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCCTCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50002,hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000358820	.	16/19	.	.	.	.	.	.	.	.	rs549152937,COSM1205562	16/19	PASS	ENST00000369805	Transcript	.	.	ENSG00000198758	21297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(0.68)	0,1	ES8L3_HUMAN	EPS8L3	HGNC	.	.	UPI00001613C9	SNV	EPS8L3,missense_variant,p.Ala494Glu,ENST00000369805,;EPS8L3,missense_variant,p.Ala493Glu,ENST00000361965,;EPS8L3,missense_variant,p.Ala463Glu,ENST00000361852,;RP4-735C1.4,intron_variant,,ENST00000431955,;EPS8L3,non_coding_transcript_exon_variant,,ENST00000475725,;EPS8L3,non_coding_transcript_exon_variant,,ENST00000489465,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,upstream_gene_variant,,ENST00000498743,;EPS8L3,downstream_gene_variant,,ENST00000482453,;	1711	54	48	SUCCESS
MASP2	10747	.	GRCh37	1	11087660	11087686	+	inframe_deletion	In_Frame_Del	DEL	CCTCCATATATACGCCCTCCTGTTGTG	CCTCCATATATACGCCCTCCTGTTGTG	-	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	CCTCCATATATACGCCCTCCTGTTGTG	CCTCCATATATACGCCCTCCTGTTGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	158	0	ENST00000400897.3:c.1317_1343del	p.Thr440_Gly448del	p.T440_G448del	ENST00000400897	NM_006610.3	439	cgCACAACAGGAGGGCGTATATATGGAGGg/cgg	0	.	.	.	.	.	-	RTTGGRIYGG/R	protein_coding	YES	CCDS123.1	1317-1343	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTGCCCTCCATATATACGCCCTCCTGTTGTGCGGGC	NONE	.	.	Superfamily_domains:SSF50494,PIRSF_domain:PIRSF001155,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF10,PROSITE_profiles:PS50240	.	.	ENSP00000383690	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000400897	Transcript	.	.	ENSG00000009724	6902	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MASP2_HUMAN	MASP2	HGNC	.	.	UPI0000161FB9	deletion	MASP2,inframe_deletion,p.Thr440_Gly448del,ENST00000400897,;TARDBP,downstream_gene_variant,,ENST00000439080,;TARDBP,downstream_gene_variant,,ENST00000240185,;TARDBP,downstream_gene_variant,,ENST00000315091,;RP4-635E18.8,upstream_gene_variant,,ENST00000607145,;TARDBP,downstream_gene_variant,,ENST00000480464,;TARDBP,downstream_gene_variant,,ENST00000477447,;TARDBP,downstream_gene_variant,,ENST00000496840,;TARDBP,downstream_gene_variant,,ENST00000473869,;	1333-1359	158	100	SUCCESS
MTOR	2475	.	GRCh37	1	11301649	11301649	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	62	0	ENST00000361445.4:c.1502T>A	p.Ile501Asn	p.I501N	ENST00000361445	NM_004958.3	501	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS127.1	1502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGATATCC	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000354558	.	10/58	.	.	.	.	.	.	.	.	.	10/58	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0)	.	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,missense_variant,p.Ile501Asn,ENST00000361445,;	1579	62	75	SUCCESS
SYT6	148281	.	GRCh37	1	114646329	114646329	+	synonymous_variant	Silent	SNP	C	C	T	rs1387249346	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	58	0	ENST00000610222.1:c.1086G>A	p.Leu362=	p.L362=	ENST00000610222		362	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS871.1	831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCAAGTC	NONE	.	.	hmmpanther:PTHR10024:SF45,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000477344	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000609117	Transcript	.	.	ENSG00000134207	18638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SYT6	HGNC	I6L9C3_HUMAN,B1AMB7_HUMAN,B1AMB6_HUMAN	.	UPI000000DACA	SNV	SYT6,synonymous_variant,p.%3D,ENST00000393296,;SYT6,synonymous_variant,p.%3D,ENST00000609117,;SYT6,synonymous_variant,p.%3D,ENST00000607941,;SYT6,synonymous_variant,p.%3D,ENST00000369547,;SYT6,synonymous_variant,p.%3D,ENST00000610222,;SYT6,3_prime_UTR_variant,,ENST00000610096,;SYT6,3_prime_UTR_variant,,ENST00000610121,;	1135	58	60	SUCCESS
SPAG17	200162	.	GRCh37	1	118539254	118539254	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	85	183	0	ENST00000336338.5:c.4889del	p.Asn1630IlefsTer31	p.N1630Ifs*31	ENST00000336338	NM_206996.2	1630	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS899.1	4889	INDELOCATOR*|VARSCANI*|PINDEL	.	TGATGATTCTTT	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	33/49	.	.	.	.	.	.	.	.	.	33/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	deletion	SPAG17,frameshift_variant,p.Asn110IlefsTer31,ENST00000437255,;SPAG17,frameshift_variant,p.Asn1630IlefsTer31,ENST00000336338,;	4955	183	269	SUCCESS
SPAG17	200162	.	GRCh37	1	118558796	118558796	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	44	127	0	ENST00000336338.5:c.4079A>C	p.His1360Pro	p.H1360P	ENST00000336338	NM_206996.2	1360	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS899.1	4079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTGACTT	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	29/49	.	.	.	.	.	.	.	.	.	29/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.06)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.His1360Pro,ENST00000336338,;	4145	127	101	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	72	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	72	62	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144930752	144930752	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	36	203	0	ENST00000369354.3:c.637-6931A>T		p.*213*	ENST00000369354				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55627.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTAGGCT	NONE	.	.	.	.	.	ENSP00000358363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODIFIER	5/43	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000313431,;PDE4DIP,synonymous_variant,p.%3D,ENST00000529945,;PDE4DIP,intron_variant,,ENST00000479408,;PDE4DIP,intron_variant,,ENST00000369354,;PDE4DIP,intron_variant,,ENST00000532801,;PDE4DIP,intron_variant,,ENST00000369349,;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000313382,;PDE4DIP,intron_variant,,ENST00000369356,;PDE4DIP,intron_variant,,ENST00000369351,;	.	203	240	SUCCESS
CTSS	1520	.	GRCh37	1	150722488	150722488	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	76	0	ENST00000368985.3:c.787A>T	p.Arg263Ter	p.R263*	ENST00000368985	NM_004079.4	263	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS968.1	787	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGTAGA	NONE	.	.	hmmpanther:PTHR12411:SF54,hmmpanther:PTHR12411,Gene3D:3.90.70.10,Pfam_domain:PF00112,SMART_domains:SM00645,Superfamily_domains:SSF54001	.	.	ENSP00000357981	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000368985	Transcript	.	.	ENSG00000163131	2545	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATS_HUMAN	CTSS	HGNC	.	.	UPI000013DFE1	SNV	CTSS,stop_gained,p.Arg213Ter,ENST00000448301,;CTSS,stop_gained,p.Arg263Ter,ENST00000368985,;CTSS,intron_variant,,ENST00000480760,;CTSS,stop_gained,p.Arg28Ter,ENST00000472977,;CTSS,stop_gained,p.Arg72Ter,ENST00000483930,;	1048	77	81	SUCCESS
PGLYRP3	114771	.	GRCh37	1	153276487	153276487	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	43	0	ENST00000290722.1:c.377-2A>C		p.X126_splice	ENST00000290722	NM_052891.1	126		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1035.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTTAAAG	NONE	.	.	.	.	.	ENSP00000290722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290722	Transcript	.	.	ENSG00000159527	30014	.	.	HIGH	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGRP3_HUMAN	PGLYRP3	HGNC	.	.	UPI000006F12B	SNV	PGLYRP3,splice_acceptor_variant,,ENST00000290722,;	.	43	87	SUCCESS
IL6R	3570	.	GRCh37	1	154407475	154407475	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	74	0	ENST00000368485.3:c.650A>T	p.Asp217Val	p.D217V	ENST00000368485	NM_000565.3	217	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS1067.1	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGATCCGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF81,hmmpanther:PTHR23036,PROSITE_patterns:PS01354,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000357470	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000368485	Transcript	.	.	ENSG00000160712	6019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IL6RA_HUMAN	IL6R	HGNC	A0N0L5_HUMAN	.	UPI00000358BA	SNV	IL6R,missense_variant,p.Asp217Val,ENST00000368485,;IL6R,missense_variant,p.Asp217Val,ENST00000344086,;IL6R,missense_variant,p.Asp20Val,ENST00000515190,;IL6R,missense_variant,p.Asp140Val,ENST00000476006,;IL6R,downstream_gene_variant,,ENST00000512471,;IL6R,upstream_gene_variant,,ENST00000507256,;	1087	74	94	SUCCESS
NES	10763	.	GRCh37	1	156640210	156640210	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	43	0	ENST00000368223.3:c.3770G>T	p.Gly1257Val	p.G1257V	ENST00000368223	NM_006617.1	1257	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1151.1	3770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCCCAGG	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	deleterious(0.02)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Gly1257Val,ENST00000368223,;	3903	43	55	SUCCESS
NTRK1	4914	.	GRCh37	1	156838010	156838011	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	38	0	ENST00000524377.1:c.543_544delinsA	p.Leu183TrpfsTer14	p.L183Wfs*14	ENST00000524377	NM_002529.3	181	ggGCcc/ggAcc	0	.	.	.	.	.	A	GP/GX	protein_coding	YES	CCDS1161.1	543-544	INDELOCATOR*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GCAAGGGCCCCTG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF133,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000431418	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000524377	Transcript	.	.	ENSG00000198400	8031	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTRK1_HUMAN	NTRK1	HGNC	.	.	UPI000013D5D3	substitution	NTRK1,frameshift_variant,p.Leu153TrpfsTer14,ENST00000392302,;NTRK1,frameshift_variant,p.Leu183TrpfsTer14,ENST00000524377,;NTRK1,frameshift_variant,p.Leu183TrpfsTer14,ENST00000358660,;NTRK1,frameshift_variant,p.Leu183TrpfsTer14,ENST00000368196,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,frameshift_variant,p.Leu153TrpfsTer14,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,downstream_gene_variant,,ENST00000533630,;	584-585	38	68	SUCCESS
CADM3	57863	.	GRCh37	1	159166681	159166681	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	rs149370954	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	53	128	0	ENST00000368125.4:c.787del	p.Gln263SerfsTer14	p.Q263Sfs*14	ENST00000368125	NM_001127173.1	261	gtC/gt	0	A:0	A:0.0008	.	A:0	.	-	V/X	protein_coding	YES	CCDS1182.1	885	INDELOCATOR*|VARSCANI*|PINDEL	.	CGACAGCCCCCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277:SF57,hmmpanther:PTHR23277,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	A:0.0001	ENSP00000357106	A:0	8/10	.	.	.	.	.	.	.	.	rs149370954,COSM3788903	8/10	PASS	ENST00000368124	Transcript	.	A:0.0002	ENSG00000162706	17601	4	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0	.	0,1	CADM3_HUMAN	CADM3	HGNC	.	.	UPI000006E8A2	deletion	CADM3,frameshift_variant,p.Gln297SerfsTer14,ENST00000368124,;CADM3,frameshift_variant,p.Gln263SerfsTer14,ENST00000368125,;CADM3,frameshift_variant,p.Gln217SerfsTer14,ENST00000416746,;CTA-134P22.2,non_coding_transcript_exon_variant,,ENST00000415675,;CTA-134P22.2,downstream_gene_variant,,ENST00000609696,;CADM3,non_coding_transcript_exon_variant,,ENST00000497636,;	1042	128	226	SUCCESS
ATP1A4	480	.	GRCh37	1	160136476	160136476	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs761465503	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	40	134	0	ENST00000368081.4:c.1206T>A	p.Asp402Glu	p.D402E	ENST00000368081	NM_144699.3	402	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS1197.1	1206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATATGAC	NONE	.	.	hmmpanther:PTHR24093:SF233,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000357060	.	8/22	.	.	.	.	.	.	.	.	rs761465503	8/22	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,missense_variant,p.Asp402Glu,ENST00000368081,;ATP1A4,upstream_gene_variant,,ENST00000418334,;ATP1A4,missense_variant,p.Asp402Glu,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	1677	135	152	SUCCESS
PBX1	5087	.	GRCh37	1	164768945	164768945	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	41	156	0	ENST00000420696.2:c.520G>A	p.Glu174Lys	p.E174K	ENST00000420696	NM_002585.3	174	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1246.1	520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGAGTTC	NONE	.	.	Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000405890	.	4/9	.	.	.	.	.	.	.	.	COSM898868	4/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.983)	.	deleterious(0.02)	1	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,missense_variant,p.Glu102Lys,ENST00000559578,;PBX1,missense_variant,p.Glu174Lys,ENST00000540236,;PBX1,missense_variant,p.Glu174Lys,ENST00000559240,;PBX1,missense_variant,p.Glu69Lys,ENST00000560641,;PBX1,missense_variant,p.Glu174Lys,ENST00000367897,;PBX1,missense_variant,p.Glu69Lys,ENST00000558837,;PBX1,missense_variant,p.Glu174Lys,ENST00000420696,;PBX1,missense_variant,p.Glu69Lys,ENST00000559560,;PBX1,missense_variant,p.Glu69Lys,ENST00000540246,;PBX1,missense_variant,p.Glu69Lys,ENST00000482110,;PBX1,missense_variant,p.Glu174Lys,ENST00000401534,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;	708	156	161	SUCCESS
METTL13	0	.	GRCh37	1	171761248	171761248	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	96	0	ENST00000361735.3:c.1566T>A	p.Ala522=	p.A522=	ENST00000361735	NM_015935.4	522	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1299.1	1566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTGTGGA	NONE	.	.	hmmpanther:PTHR12176:SF13,hmmpanther:PTHR12176,Gene3D:3.40.50.150,Pfam_domain:PF12847,Superfamily_domains:SSF53335	.	.	ENSP00000354920	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,synonymous_variant,p.%3D,ENST00000458517,;METTL13,synonymous_variant,p.%3D,ENST00000361735,;METTL13,synonymous_variant,p.%3D,ENST00000367737,;METTL13,synonymous_variant,p.%3D,ENST00000362019,;METTL13,non_coding_transcript_exon_variant,,ENST00000466643,;METTL13,upstream_gene_variant,,ENST00000476386,;METTL13,downstream_gene_variant,,ENST00000478330,;	1832	96	111	SUCCESS
DNM3	26052	.	GRCh37	1	172102268	172102268	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	21	0	ENST00000355305.5:c.1689+1840A>T		p.*563*	ENST00000355305				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53431.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACACTGAA	NONE	.	.	.	.	.	ENSP00000350876	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODIFIER	14/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,3_prime_UTR_variant,,ENST00000367733,;DNM3,intron_variant,,ENST00000367731,;DNM3,intron_variant,,ENST00000355305,;DNM3,intron_variant,,ENST00000358155,;DNM3,intron_variant,,ENST00000523513,;DNM3,intron_variant,,ENST00000520906,;	.	21	27	SUCCESS
CROCC	9696	.	GRCh37	1	17280852	17280852	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs1387308936	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	42	137	0	ENST00000375541.5:c.3321G>T		p.X1107_splice	ENST00000375541	NM_014675.3	1107	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30616.1	3321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCGGGTAGG	NONE	.	.	hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159	.	.	ENSP00000364691	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,synonymous_variant,p.%3D,ENST00000445545,;CROCC,synonymous_variant,p.%3D,ENST00000375541,;CROCC,non_coding_transcript_exon_variant,,ENST00000467938,;CROCC,downstream_gene_variant,,ENST00000498688,;CROCC,downstream_gene_variant,,ENST00000477773,;CROCC,downstream_gene_variant,,ENST00000486318,;CROCC,splice_region_variant,,ENST00000497654,;CROCC,non_coding_transcript_exon_variant,,ENST00000494191,;	3390	137	94	SUCCESS
PADI2	11240	.	GRCh37	1	17395717	17395717	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	107	0	ENST00000375486.4:c.1820A>T	p.Gln607Leu	p.Q607L	ENST00000375486	NM_007365.2	607	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS177.1	1820	MUTECT|MUSE	.	CAACCTGTGGC	NONE	.	.	hmmpanther:PTHR10837:SF1,hmmpanther:PTHR10837,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364635	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000375486	Transcript	.	.	ENSG00000117115	18341	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.53)	.	PADI2_HUMAN	PADI2	HGNC	Q96DA7_HUMAN	.	UPI00001314AF	SNV	PADI2,missense_variant,p.Gln607Leu,ENST00000375486,;PADI2,missense_variant,p.Gln491Leu,ENST00000444885,;PADI2,non_coding_transcript_exon_variant,,ENST00000479534,;PADI2,non_coding_transcript_exon_variant,,ENST00000466151,;	1884	107	78	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17975106	17975106	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	10	123	0	ENST00000361221.3:c.2330C>G	p.Pro777Arg	p.P777R	ENST00000361221	NM_018125.3	777	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS182.1	2330	MUTECT|MUSE|VARSCANS	.	AGCCCCATTCT	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16	.	.	ENSP00000355060	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.972)	.	tolerated(0.11)	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,missense_variant,p.Pro777Arg,ENST00000361221,;ARHGEF10L,missense_variant,p.Pro550Arg,ENST00000375408,;ARHGEF10L,missense_variant,p.Pro480Arg,ENST00000167825,;ARHGEF10L,missense_variant,p.Pro738Arg,ENST00000375415,;ARHGEF10L,missense_variant,p.Pro772Arg,ENST00000434513,;ARHGEF10L,missense_variant,p.Pro738Arg,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000466782,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	2489	123	126	SUCCESS
KIAA1614	57710	.	GRCh37	1	180885579	180885579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	47	99	0	ENST00000367588.4:c.340A>G	p.Lys114Glu	p.K114E	ENST00000367588	NM_020950.1	114	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41442.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCAAGAAA	NONE	.	.	hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7	.	.	ENSP00000356560	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000367588	Transcript	.	.	ENSG00000135835	29327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0.03)	.	K1614_HUMAN	KIAA1614	HGNC	.	.	UPI00001C1D75	SNV	KIAA1614,missense_variant,p.Lys114Glu,ENST00000367588,;KIAA1614,downstream_gene_variant,,ENST00000496210,;	395	99	157	SUCCESS
ZNF648	127665	.	GRCh37	1	182025741	182025741	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	33	86	0	ENST00000339948.3:c.1405A>T	p.Ile469Phe	p.I469F	ENST00000339948	NM_001009992.1	469	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS30952.1	1405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGATGCGCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24376:SF1,hmmpanther:PTHR24376,PROSITE_profiles:PS50157	.	.	ENSP00000344129	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339948	Transcript	.	.	ENSG00000179930	18190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN648_HUMAN	ZNF648	HGNC	.	.	UPI0000161414	SNV	ZNF648,missense_variant,p.Ile469Phe,ENST00000339948,;	1613	86	119	SUCCESS
LAMC2	3918	.	GRCh37	1	183209229	183209229	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	41	109	0	ENST00000264144.4:c.3124A>T	p.Met1042Leu	p.M1042L	ENST00000264144	NM_005562.2	1042	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS1352.1	3124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCATGGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	.	.	ENSP00000264144	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,missense_variant,p.Met1042Leu,ENST00000264144,;LAMC2,missense_variant,p.Met1042Leu,ENST00000493293,;LAMC2,non_coding_transcript_exon_variant,,ENST00000461729,;LAMC2,upstream_gene_variant,,ENST00000476255,;	3189	109	146	SUCCESS
ALDH4A1	8659	.	GRCh37	1	19201873	19201873	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	144	0	ENST00000290597.5:c.1460+3G>A		p.X487_splice	ENST00000290597	NM_170726.2	487		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS188.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCACTTA	NONE	.	.	.	.	.	ENSP00000364490	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375341	Transcript	.	.	ENSG00000159423	406	.	.	LOW	13/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AL4A1_HUMAN	ALDH4A1	HGNC	.	.	UPI000007418C	SNV	ALDH4A1,splice_region_variant,,ENST00000538309,;ALDH4A1,splice_region_variant,,ENST00000538839,;ALDH4A1,splice_region_variant,,ENST00000290597,;ALDH4A1,splice_region_variant,,ENST00000375341,;RP13-279N23.2,splice_region_variant,,ENST00000494072,;	.	144	93	SUCCESS
CFHR5	81494	.	GRCh37	1	196965322	196965322	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	82	0	ENST00000256785.4:c.961A>T	p.Met321Leu	p.M321L	ENST00000256785		321	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS1387.1	961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTATGTGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF328,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000256785	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000256785	Transcript	.	.	ENSG00000134389	24668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.12)	.	FHR5_HUMAN	CFHR5	HGNC	.	.	UPI0000043814	SNV	CFHR5,missense_variant,p.Met345Leu,ENST00000367414,;CFHR5,missense_variant,p.Met321Leu,ENST00000256785,;	1070	82	97	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204226522	204226522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	128	0	ENST00000272203.3:c.1483C>T	p.Pro495Ser	p.P495S	ENST00000272203	NM_014935.4	495	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1444.1	1483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGGTCAG	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0)	.	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,missense_variant,p.Pro515Ser,ENST00000414478,;PLEKHA6,missense_variant,p.Pro495Ser,ENST00000272203,;PLEKHA6,downstream_gene_variant,,ENST00000485632,;	1800	128	110	SUCCESS
AVPR1B	553	.	GRCh37	1	206225342	206225342	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	61	0	ENST00000367126.4:c.902A>T	p.Gln301Leu	p.Q301L	ENST00000367126	NM_000707.3	301	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS30994.1	902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAGATGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00896,Prints_domain:PR00237	.	.	ENSP00000356094	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367126	Transcript	.	.	ENSG00000198049	896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	V1BR_HUMAN	AVPR1B	HGNC	.	.	UPI000005043A	SNV	AVPR1B,missense_variant,p.Gln301Leu,ENST00000367126,;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;	1367	61	86	SUCCESS
OBSCN	84033	.	GRCh37	1	228482634	228482634	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	85	249	0	ENST00000422127.1:c.11549A>T	p.Gln3850Leu	p.Q3850L	ENST00000422127	NM_001098623.2	3850	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS59204.1	12836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCAGGATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	48/116	.	.	.	.	.	.	.	.	.	48/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Gln969Leu,ENST00000366707,;OBSCN,missense_variant,p.Gln969Leu,ENST00000366709,;OBSCN,missense_variant,p.Gln1126Leu,ENST00000483539,;OBSCN,missense_variant,p.Gln3850Leu,ENST00000284548,;OBSCN,missense_variant,p.Gln2697Leu,ENST00000359599,;OBSCN,missense_variant,p.Gln4279Leu,ENST00000570156,;OBSCN,missense_variant,p.Gln3850Leu,ENST00000422127,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000602685,;OBSCN,non_coding_transcript_exon_variant,,ENST00000494839,;	12910	249	284	SUCCESS
IFNLR1	163702	.	GRCh37	1	24486039	24486039	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	45	182	0	ENST00000327535.1:c.595A>T	p.Arg199Ter	p.R199*	ENST00000327535	NM_170743.3	199	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS248.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTGGCAC	NONE	.	.	hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF46,Superfamily_domains:SSF49265	.	.	ENSP00000327824	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000327535	Transcript	.	.	ENSG00000185436	18584	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INLR1_HUMAN	IFNLR1	HGNC	A4QPA4_HUMAN	.	UPI000004D3FC	SNV	IFNLR1,stop_gained,p.Arg199Ter,ENST00000374421,;IFNLR1,stop_gained,p.Arg199Ter,ENST00000327535,;IFNLR1,stop_gained,p.Arg199Ter,ENST00000327575,;IFNLR1,stop_gained,p.Arg116Ter,ENST00000374419,;IFNLR1,downstream_gene_variant,,ENST00000374418,;	608	182	129	SUCCESS
KIF26B	55083	.	GRCh37	1	245851010	245851010	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	58	173	0	ENST00000407071.2:c.4725T>A	p.Ala1575=	p.A1575=	ENST00000407071	NM_018012.3	1575	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44342.1	4725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTACCCT	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;KIF26B,downstream_gene_variant,,ENST00000483253,;	5165	173	207	SUCCESS
OR13G1	441933	.	GRCh37	1	247835424	247835424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	61	0	ENST00000359688.2:c.920A>T	p.His307Leu	p.H307L	ENST00000359688	NM_001005487.1	307	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS31094.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGTGTTTC	NONE	.	.	.	.	.	ENSP00000352717	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359688	Transcript	.	.	ENSG00000197437	14999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	deleterious(0.02)	.	O13G1_HUMAN	OR13G1	HGNC	.	.	UPI0000061E5B	SNV	OR13G1,missense_variant,p.His307Leu,ENST00000359688,;RP11-634B7.4,intron_variant,,ENST00000449298,;OR3D1P,downstream_gene_variant,,ENST00000438288,;	942	61	105	SUCCESS
OR2T11	127077	.	GRCh37	1	248789949	248789949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	56	61	0	ENST00000330803.2:c.481A>T	p.Met161Leu	p.M161L	ENST00000330803	NM_001001964.1	161	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS31122.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATGGTGA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF173,PROSITE_profiles:PS50262	.	.	ENSP00000328934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330803	Transcript	.	.	ENSG00000183130	19574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	tolerated(0.35)	.	O2T11_HUMAN	OR2T11	HGNC	.	.	UPI000004F23F	SNV	OR2T11,missense_variant,p.Met161Leu,ENST00000330803,;	543	61	143	SUCCESS
ZDHHC18	84243	.	GRCh37	1	27176859	27176859	+	synonymous_variant	Silent	SNP	C	C	T	rs759970162	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	110	0	ENST00000374142.4:c.714C>T	p.Tyr238=	p.Y238=	ENST00000374142	NM_032283.2	238	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS30650.1	714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTACGCGTT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01529,hmmpanther:PTHR22883:SF37,hmmpanther:PTHR22883,PROSITE_profiles:PS50216	.	.	ENSP00000363257	.	4/8	.	.	.	.	.	.	.	.	rs759970162	4/8	PASS	ENST00000374142	Transcript	.	.	ENSG00000204160	20712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDH18_HUMAN	ZDHHC18	HGNC	E9PJS3_HUMAN,B4DQ84_HUMAN	.	UPI00001C0437	SNV	ZDHHC18,synonymous_variant,p.%3D,ENST00000488397,;ZDHHC18,synonymous_variant,p.%3D,ENST00000534643,;ZDHHC18,synonymous_variant,p.%3D,ENST00000374142,;ZDHHC18,synonymous_variant,p.%3D,ENST00000374141,;ZDHHC18,upstream_gene_variant,,ENST00000478902,;	809	110	93	SUCCESS
COL16A1	1307	.	GRCh37	1	32149574	32149574	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	97	331	0	ENST00000373672.3:c.2314C>T	p.Pro772Ser	p.P772S	ENST00000373672	NM_001856.3	772	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41297.1	2314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGCCCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	33/71	.	.	.	.	.	.	.	.	.	33/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Pro772Ser,ENST00000373672,;COL16A1,missense_variant,p.Pro771Ser,ENST00000271069,;COL16A1,missense_variant,p.Pro772Ser,ENST00000373668,;COL16A1,upstream_gene_variant,,ENST00000458715,;COL16A1,downstream_gene_variant,,ENST00000373667,;COL16A1,non_coding_transcript_exon_variant,,ENST00000474000,;COL16A1,downstream_gene_variant,,ENST00000482478,;COL16A1,downstream_gene_variant,,ENST00000529928,;	2831	331	264	SUCCESS
ZMYM4	9202	.	GRCh37	1	35884117	35884117	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	55	125	0	ENST00000314607.6:c.4383T>C	p.Asn1461=	p.N1461=	ENST00000314607	NM_005095.2	1461	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS389.1	4383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATACTGA	NONE	.	.	Pfam_domain:PF12012,hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,synonymous_variant,p.%3D,ENST00000457946,;ZMYM4,synonymous_variant,p.%3D,ENST00000373297,;ZMYM4,synonymous_variant,p.%3D,ENST00000314607,;	4463	125	109	SUCCESS
RIMS3	9783	.	GRCh37	1	41094561	41094561	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	72	0	ENST00000372683.1:c.635A>T	p.Lys212Met	p.K212M	ENST00000372683		212	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS30687.1	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTTTGTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000361769	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000372684	Transcript	.	.	ENSG00000117016	21292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious_low_confidence(0)	.	RIMS3_HUMAN	RIMS3	HGNC	.	.	UPI000006E06A	SNV	RIMS3,missense_variant,p.Lys212Met,ENST00000372683,;RIMS3,missense_variant,p.Lys212Met,ENST00000372684,;	1105	72	59	SUCCESS
EIF2B3	8891	.	GRCh37	1	45340421	45340421	+	synonymous_variant	Silent	SNP	T	T	A	rs774443617	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	105	0	ENST00000360403.2:c.1131A>T	p.Ser377=	p.S377=	ENST00000360403	NM_020365.4	377	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS517.1	1131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGATGAGCC	NONE	.	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF8,Gene3D:2.160.10.10,Superfamily_domains:SSF53448	.	.	ENSP00000353575	.	10/12	.	.	.	.	.	.	.	.	rs774443617	10/12	PASS	ENST00000360403	Transcript	.	.	ENSG00000070785	3259	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BG_HUMAN	EIF2B3	HGNC	Q9HA31_HUMAN	.	UPI0000046983	SNV	EIF2B3,synonymous_variant,p.%3D,ENST00000360403,;EIF2B3,synonymous_variant,p.%3D,ENST00000372183,;EIF2B3,synonymous_variant,p.%3D,ENST00000439363,;EIF2B3,non_coding_transcript_exon_variant,,ENST00000486491,;	1258	105	85	SUCCESS
TTC22	55001	.	GRCh37	1	55266932	55266932	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	28	0	ENST00000371276.4:c.-96G>T		p.*32*	ENST00000371276	NM_001114108.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44152.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGAGGG	NONE	.	.	.	.	.	ENSP00000360323	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000371276	Transcript	.	.	ENSG00000006555	26067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC22_HUMAN	TTC22	HGNC	.	.	UPI0000470B73	SNV	TTC22,5_prime_UTR_variant,,ENST00000371276,;C1orf177,upstream_gene_variant,,ENST00000358193,;TTC22,upstream_gene_variant,,ENST00000371274,;C1orf177,upstream_gene_variant,,ENST00000371273,;	9	28	24	SUCCESS
CHD5	26038	.	GRCh37	1	6211179	6211179	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs140594423	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	40	0	ENST00000262450.3:c.907A>T	p.Ser303Cys	p.S303C	ENST00000262450	NM_015557.2	303	Agc/Tgc	0	G:0	.	.	.	.	A	S/C	protein_coding	YES	CCDS57.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCTGTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583	.	G:0.0001	ENSP00000262450	.	7/42	.	.	.	.	.	.	.	.	rs140594423	7/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	deleterious(0.01)	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,missense_variant,p.Ser303Cys,ENST00000262450,;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Ser303Cys,ENST00000496404,;	1007	40	24	SUCCESS
KANK4	163782	.	GRCh37	1	62740090	62740090	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	58	184	0	ENST00000371153.4:c.686A>T	p.Gln229Leu	p.Q229L	ENST00000371153	NM_181712.4	229	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS620.1	686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGGACC	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20	.	.	ENSP00000360195	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000371153	Transcript	.	.	ENSG00000132854	27263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.79)	.	KANK4_HUMAN	KANK4	HGNC	B1ALP6_HUMAN,B1ALP5_HUMAN	.	UPI000022AE73	SNV	KANK4,missense_variant,p.Gln229Leu,ENST00000371153,;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;	1065	184	147	SUCCESS
ZBTB48	3104	.	GRCh37	1	6641168	6641168	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	88	0	ENST00000377674.4:c.499A>T	p.Arg167Ter	p.R167*	ENST00000377674	NM_001278648.1	167	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS84.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCAGAGGC	NONE	.	.	hmmpanther:PTHR24375:SF5,hmmpanther:PTHR24375	.	.	ENSP00000366902	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000377674	Transcript	.	.	ENSG00000204859	4930	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT48_HUMAN	ZBTB48	HGNC	Q6LCP1_HUMAN,Q5SY21_HUMAN,Q5SY20_HUMAN,K7EM76_HUMAN	.	UPI000012C932	SNV	ZBTB48,stop_gained,p.Arg167Ter,ENST00000435905,;ZBTB48,stop_gained,p.Arg167Ter,ENST00000377674,;ZBTB48,stop_gained,p.Arg167Ter,ENST00000319084,;ZBTB48,intron_variant,,ENST00000488936,;TAS1R1,downstream_gene_variant,,ENST00000415267,;TAS1R1,downstream_gene_variant,,ENST00000351136,;TAS1R1,downstream_gene_variant,,ENST00000333172,;TAS1R1,downstream_gene_variant,,ENST00000328191,;TAS1R1,downstream_gene_variant,,ENST00000411823,;ZBTB48,upstream_gene_variant,,ENST00000482360,;	657	88	71	SUCCESS
LRRC7	57554	.	GRCh37	1	70503923	70503923	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	48	149	0	ENST00000035383.5:c.2302T>C	p.Trp768Arg	p.W768R	ENST00000035383	NM_020794.2	768	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS645.1	2302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACTGGACT	NONE	.	.	.	.	.	ENSP00000035383	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Trp52Arg,ENST00000415775,;LRRC7,missense_variant,p.Trp768Arg,ENST00000035383,;LRRC7,missense_variant,p.Trp773Arg,ENST00000310961,;	2332	149	132	SUCCESS
RWDD3	25950	.	GRCh37	1	95712212	95712212	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	91	264	0	ENST00000370202.4:c.688A>T	p.Arg230Trp	p.R230W	ENST00000370202	NM_015485.4	230	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS41357.1	688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAGGTAT	NONE	.	.	hmmpanther:PTHR15628	.	.	ENSP00000359221	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000370202	Transcript	.	.	ENSG00000122481	21393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	RWDD3_HUMAN	RWDD3	HGNC	.	.	UPI000059D012	SNV	RWDD3,missense_variant,p.Arg230Trp,ENST00000370202,;RWDD3,intron_variant,,ENST00000263893,;TMEM56-RWDD3,intron_variant,,ENST00000604203,;RWDD3,downstream_gene_variant,,ENST00000429514,;TMEM56-RWDD3,downstream_gene_variant,,ENST00000604534,;RP11-57H12.5,intron_variant,,ENST00000444665,;RP11-57H12.5,downstream_gene_variant,,ENST00000598739,;RWDD3,splice_region_variant,,ENST00000497058,;RWDD3,splice_region_variant,,ENST00000495272,;RWDD3,splice_region_variant,,ENST00000460571,;RWDD3,intron_variant,,ENST00000473397,;RWDD3,downstream_gene_variant,,ENST00000492639,;	764	264	219	SUCCESS
C20orf26	0	.	GRCh37	20	20071622	20071622	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	109	0	ENST00000245957.5:c.699+2T>A		p.X233_splice	ENST00000245957	NM_015585.3	233		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33447.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTCAGTG	NONE	.	.	.	.	.	ENSP00000245957	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	HIGH	7/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,splice_donor_variant,,ENST00000451767,;C20orf26,splice_donor_variant,,ENST00000377306,;C20orf26,splice_donor_variant,,ENST00000245957,;C20orf26,splice_donor_variant,,ENST00000377309,;C20orf26,splice_donor_variant,,ENST00000389656,;C20orf26,splice_donor_variant,,ENST00000340348,;C20orf26,splice_donor_variant,,ENST00000472660,;RP5-1002M8.4,downstream_gene_variant,,ENST00000470758,;C20orf26,intron_variant,,ENST00000442372,;	.	109	87	SUCCESS
DEFB129	140881	.	GRCh37	20	210384	210384	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs748911335	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	51	0	ENST00000246105.4:c.524T>A	p.Leu175Gln	p.L175Q	ENST00000246105	NM_080831.3	175	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12992.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACTGGAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000246105	.	2/2	.	.	.	.	.	.	.	.	rs748911335	2/2	PASS	ENST00000246105	Transcript	.	.	ENSG00000125903	16218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated_low_confidence(0.31)	.	DB129_HUMAN	DEFB129	HGNC	.	.	UPI0000042232	SNV	DEFB129,missense_variant,p.Leu175Gln,ENST00000246105,;	555	51	34	SUCCESS
CEP250	11190	.	GRCh37	20	34091356	34091356	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs751235406	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	38	133	0	ENST00000397527.1:c.5159A>T	p.Gln1720Leu	p.Q1720L	ENST00000397527	NM_007186.3	1720	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13255.1	5159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGCGCG	NONE	.	.	hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	.	ENSP00000380661	.	30/35	.	.	.	.	.	.	.	.	rs751235406	30/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Gln208Leu,ENST00000422671,;CEP250,missense_variant,p.Gln1664Leu,ENST00000342580,;CEP250,missense_variant,p.Gln1720Leu,ENST00000397527,;CEP250,downstream_gene_variant,,ENST00000425525,;	5879	133	106	SUCCESS
SPINT3	10816	.	GRCh37	20	44141486	44141486	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	54	0	ENST00000217428.6:c.77-2A>T		p.X26_splice	ENST00000217428	NM_006652.1	26		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46608.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCTGAAGA	NONE	.	.	.	.	.	ENSP00000217428	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000217428	Transcript	.	.	ENSG00000101446	11248	.	.	HIGH	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIT3_HUMAN	SPINT3	HGNC	.	.	UPI0000E5A336	SNV	SPINT3,splice_acceptor_variant,,ENST00000217428,;	.	54	40	SUCCESS
ARFGAP1	55738	.	GRCh37	20	61916216	61916216	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	44	0	ENST00000370283.4:c.718-2A>T		p.X240_splice	ENST00000370283	NM_018209.3	240		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13516.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACAGGCGT	NONE	.	.	.	.	.	ENSP00000314615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353546	Transcript	.	.	ENSG00000101199	15852	.	.	HIGH	10/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARFG1_HUMAN	ARFGAP1	HGNC	F8VWH9_HUMAN,F8VWB3_HUMAN,E5RIU2_HUMAN	.	UPI000002A3F2	SNV	ARFGAP1,splice_acceptor_variant,,ENST00000370275,;ARFGAP1,splice_acceptor_variant,,ENST00000370283,;ARFGAP1,splice_acceptor_variant,,ENST00000518601,;ARFGAP1,splice_acceptor_variant,,ENST00000522403,;ARFGAP1,splice_acceptor_variant,,ENST00000519604,;ARFGAP1,splice_acceptor_variant,,ENST00000547204,;ARFGAP1,splice_acceptor_variant,,ENST00000549047,;ARFGAP1,splice_acceptor_variant,,ENST00000353546,;ARFGAP1,splice_acceptor_variant,,ENST00000519273,;ARFGAP1,intron_variant,,ENST00000523460,;ARFGAP1,upstream_gene_variant,,ENST00000549076,;MIR4326,upstream_gene_variant,,ENST00000582203,;ARFGAP1,splice_acceptor_variant,,ENST00000468975,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518794,;ARFGAP1,upstream_gene_variant,,ENST00000518618,;ARFGAP1,splice_acceptor_variant,,ENST00000520485,;ARFGAP1,splice_acceptor_variant,,ENST00000520022,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518691,;ARFGAP1,upstream_gene_variant,,ENST00000395285,;ARFGAP1,downstream_gene_variant,,ENST00000519531,;	.	44	59	SUCCESS
COL20A1	57642	.	GRCh37	20	61943819	61943819	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	44	0	ENST00000358894.6:c.1851T>A	p.Ser617=	p.S617=	ENST00000358894	NM_020882.2	617	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46628.1	1851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTTCCTC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853	.	.	ENSP00000351767	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,synonymous_variant,p.%3D,ENST00000358894,;COL20A1,synonymous_variant,p.%3D,ENST00000422202,;COL20A1,synonymous_variant,p.%3D,ENST00000326996,;COL20A1,synonymous_variant,p.%3D,ENST00000435874,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	1951	44	49	SUCCESS
COL20A1	57642	.	GRCh37	20	61948029	61948038	+	frameshift_variant	Frame_Shift_Del	DEL	GACAAGACGG	GACAAGACGG	-	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	GACAAGACGG	GACAAGACGG	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	28	0	ENST00000358894.6:c.2650_2659del	p.Thr884SerfsTer35	p.T884Sfs*35	ENST00000358894	NM_020882.2	883	ctGACAAGACGG/ct	0	.	.	.	.	.	-	LTRR/X	protein_coding	YES	CCDS46628.1	2649-2658	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGCTGACAAGACGGGTCAG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00210	.	.	ENSP00000351767	.	21/36	.	.	.	.	.	.	.	.	.	21/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	deletion	COL20A1,frameshift_variant,p.Thr884SerfsTer35,ENST00000358894,;COL20A1,frameshift_variant,p.Thr891SerfsTer35,ENST00000422202,;COL20A1,frameshift_variant,p.Thr884SerfsTer35,ENST00000326996,;COL20A1,frameshift_variant,p.Thr891SerfsTer35,ENST00000435874,;COL20A1,upstream_gene_variant,,ENST00000415763,;COL20A1,upstream_gene_variant,,ENST00000455906,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	2749-2758	28	46	SUCCESS
TCEA2	6919	.	GRCh37	20	62701907	62701907	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	66	214	0	ENST00000343484.5:c.738C>T	p.His246=	p.H246=	ENST00000343484	NM_003195.4	246	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS13553.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACCAGAT	NONE	.	.	PROSITE_profiles:PS51321,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF3,TIGRFAM_domain:TIGR01385,Gene3D:2.20.25.10,Pfam_domain:PF07500,PIRSF_domain:PIRSF006704	.	.	ENSP00000343515	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000343484	Transcript	.	.	ENSG00000171703	11614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCEA2_HUMAN	TCEA2	HGNC	Q6IB64_HUMAN,Q5JRI8_HUMAN,Q5JRI7_HUMAN	.	UPI0000136AC0	SNV	TCEA2,synonymous_variant,p.%3D,ENST00000343484,;TCEA2,synonymous_variant,p.%3D,ENST00000361317,;TCEA2,synonymous_variant,p.%3D,ENST00000440819,;TCEA2,synonymous_variant,p.%3D,ENST00000458442,;TCEA2,synonymous_variant,p.%3D,ENST00000339217,;TCEA2,3_prime_UTR_variant,,ENST00000395053,;RGS19,downstream_gene_variant,,ENST00000395042,;RGS19,downstream_gene_variant,,ENST00000332298,;TCEA2,downstream_gene_variant,,ENST00000415602,;TCEA2,non_coding_transcript_exon_variant,,ENST00000475236,;TCEA2,non_coding_transcript_exon_variant,,ENST00000465433,;TCEA2,non_coding_transcript_exon_variant,,ENST00000477783,;TCEA2,non_coding_transcript_exon_variant,,ENST00000461072,;TCEA2,non_coding_transcript_exon_variant,,ENST00000465111,;TCEA2,non_coding_transcript_exon_variant,,ENST00000495168,;RGS19,downstream_gene_variant,,ENST00000493165,;TCEA2,downstream_gene_variant,,ENST00000470559,;TCEA2,downstream_gene_variant,,ENST00000487164,;	907	214	213	SUCCESS
PAK7	0	.	GRCh37	20	9560941	9560941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	65	145	0	ENST00000353224.5:c.841A>T	p.Thr281Ser	p.T281S	ENST00000353224	NM_177990.2	281	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS13107.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTGGGCT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.75)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Thr281Ser,ENST00000378423,;PAK7,missense_variant,p.Thr281Ser,ENST00000378429,;PAK7,missense_variant,p.Thr281Ser,ENST00000353224,;RP5-986I17.2,downstream_gene_variant,,ENST00000428769,;	1388	145	148	SUCCESS
SLC7A4	6545	.	GRCh37	22	21384217	21384217	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	89	0	ENST00000382932.2:c.1406T>A	p.Leu469Ter	p.L469*	ENST00000382932	NM_004173.2	469	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS33608.1	1406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAAGAAG	NONE	.	.	hmmpanther:PTHR11785:SF196,hmmpanther:PTHR11785,PIRSF_domain:PIRSF006060	.	.	ENSP00000372390	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000382932	Transcript	.	.	ENSG00000099960	11062	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTR4_HUMAN	SLC7A4	HGNC	C9JM63_HUMAN	.	UPI0000169EC7	SNV	SLC7A4,stop_gained,p.Leu469Ter,ENST00000403586,;SLC7A4,stop_gained,p.Leu469Ter,ENST00000382932,;P2RX6,downstream_gene_variant,,ENST00000401443,;P2RX6,downstream_gene_variant,,ENST00000413302,;P2RX6,downstream_gene_variant,,ENST00000402329,;SLC7A4,downstream_gene_variant,,ENST00000426145,;P2RX6,downstream_gene_variant,,ENST00000336296,;P2RX6,downstream_gene_variant,,ENST00000443995,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000487342,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;	1474	89	78	SUCCESS
ADORA2A	135	.	GRCh37	22	24836868	24836881	+	frameshift_variant	Frame_Shift_Del	DEL	CGGGGGAGCGGGCA	CGGGGGAGCGGGCA	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	CGGGGGAGCGGGCA	CGGGGGAGCGGGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	68	0	ENST00000337539.7:c.650_663delinsT	p.Pro217LeufsTer63	p.P217Lfs*63	ENST00000337539	NM_001278499.1	217	cCGGGGGAGCGGGCA/cT	0	.	.	.	.	.	T	PGERA/X	protein_coding	YES	CCDS13826.1	650-663	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTGCCGGGGGAGCGGGCACGGTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF19,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00553	.	.	ENSP00000336630	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337539	Transcript	.	.	ENSG00000128271	263	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AA2AR_HUMAN	ADORA2A	HGNC	S4R429_HUMAN,S4R3A7_HUMAN,S4R2Z8_HUMAN,C9JQD8_HUMAN,C9JFS2_HUMAN,C9J3T2_HUMAN,C9J0Z4_HUMAN,B4DW87_HUMAN	.	UPI00000503E2	substitution	ADORA2A,frameshift_variant,p.Pro217LeufsTer63,ENST00000444262,;ADORA2A,frameshift_variant,p.Pro217LeufsTer63,ENST00000337539,;ADORA2A-AS1,intron_variant,,ENST00000326341,;ADORA2A-AS1,intron_variant,,ENST00000427813,;ADORA2A-AS1,intron_variant,,ENST00000543438,;ADORA2A,non_coding_transcript_exon_variant,,ENST00000496497,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;	1109-1122	68	44	SUCCESS
ADORA2A	135	.	GRCh37	22	24836881	24836881	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	69	0	ENST00000337539.7:c.663A>T	p.Ala221=	p.A221=	ENST00000337539	NM_001278499.1	221	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13826.1	663	SOMATICSNIPER|VARSCANS	.	CGGGCACGGTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF19,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00553	.	.	ENSP00000336630	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337539	Transcript	.	.	ENSG00000128271	263	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AA2AR_HUMAN	ADORA2A	HGNC	S4R429_HUMAN,S4R3A7_HUMAN,S4R2Z8_HUMAN,C9JQD8_HUMAN,C9JFS2_HUMAN,C9J3T2_HUMAN,C9J0Z4_HUMAN,B4DW87_HUMAN	.	UPI00000503E2	SNV	ADORA2A,synonymous_variant,p.%3D,ENST00000444262,;ADORA2A,synonymous_variant,p.%3D,ENST00000337539,;ADORA2A-AS1,intron_variant,,ENST00000326341,;ADORA2A-AS1,intron_variant,,ENST00000427813,;ADORA2A-AS1,intron_variant,,ENST00000543438,;ADORA2A,non_coding_transcript_exon_variant,,ENST00000496497,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;	1122	69	38	SUCCESS
CSF2RB	1439	.	GRCh37	22	37333867	37333867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	25	56	0	ENST00000403662.3:c.2017G>T	p.Gly673Cys	p.G673C	ENST00000403662		673	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS13936.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGGCCCT	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001956,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22	.	.	ENSP00000384053	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000403662	Transcript	.	.	ENSG00000100368	2436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.12)	.	IL3RB_HUMAN	CSF2RB	HGNC	B0QY07_HUMAN	.	UPI0000128C9F	SNV	CSF2RB,missense_variant,p.Gly620Cys,ENST00000536485,;CSF2RB,missense_variant,p.Gly679Cys,ENST00000406230,;CSF2RB,missense_variant,p.Gly673Cys,ENST00000403662,;CSF2RB,missense_variant,p.Gly679Cys,ENST00000262825,;	2239	56	49	SUCCESS
LMF2	91289	.	GRCh37	22	50943406	50943406	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	137	0	ENST00000474879.2:c.1262A>T	p.Tyr421Phe	p.Y421F	ENST00000474879	NM_033200.2	421	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS14093.2	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTACGGC	NONE	.	.	hmmpanther:PTHR14463,hmmpanther:PTHR14463:SF5,Pfam_domain:PF06762	.	.	ENSP00000424381	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000474879	Transcript	.	.	ENSG00000100258	25096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.43)	.	LMF2_HUMAN	LMF2	HGNC	.	.	UPI0000071DF9	SNV	LMF2,missense_variant,p.Tyr396Phe,ENST00000216080,;LMF2,missense_variant,p.Tyr421Phe,ENST00000474879,;LMF2,intron_variant,,ENST00000380796,;NCAPH2,upstream_gene_variant,,ENST00000523045,;NCAPH2,upstream_gene_variant,,ENST00000395701,;NCAPH2,upstream_gene_variant,,ENST00000420993,;NCAPH2,upstream_gene_variant,,ENST00000299821,;NCAPH2,upstream_gene_variant,,ENST00000395698,;LMF2,downstream_gene_variant,,ENST00000505981,;LMF2,non_coding_transcript_exon_variant,,ENST00000514938,;LMF2,non_coding_transcript_exon_variant,,ENST00000504717,;LMF2,downstream_gene_variant,,ENST00000507607,;NCAPH2,upstream_gene_variant,,ENST00000418794,;NCAPH2,upstream_gene_variant,,ENST00000518394,;	1278	137	98	SUCCESS
DPP10	57628	.	GRCh37	2	116257157	116257157	+	synonymous_variant	Silent	SNP	T	T	C	rs139947044	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	107	277	0	ENST00000410059.1:c.343T>C	p.Leu115=	p.L115=	ENST00000410059	NM_001178037.1	115	Tta/Cta	0	C:0	.	.	.	.	C	L	protein_coding	YES	CCDS54388.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATTATTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	C:0.0001	ENSP00000376855	.	4/26	.	.	.	.	.	.	.	.	rs139947044	4/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,synonymous_variant,p.%3D,ENST00000419287,;DPP10,synonymous_variant,p.%3D,ENST00000409163,;DPP10,synonymous_variant,p.%3D,ENST00000393147,;DPP10,synonymous_variant,p.%3D,ENST00000393146,;DPP10,synonymous_variant,p.%3D,ENST00000410059,;DPP10,synonymous_variant,p.%3D,ENST00000310323,;DPP10,downstream_gene_variant,,ENST00000436732,;DPP10,non_coding_transcript_exon_variant,,ENST00000488208,;DPP10,3_prime_UTR_variant,,ENST00000429914,;DPP10,non_coding_transcript_exon_variant,,ENST00000461250,;DPP10,non_coding_transcript_exon_variant,,ENST00000486885,;	710	277	246	SUCCESS
KYNU	8942	.	GRCh37	2	143718311	143718311	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	40	83	0	ENST00000264170.4:c.701C>T	p.Pro234Leu	p.P234L	ENST00000264170	NM_003937.2	234	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2183.1	701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCCTGCCA	NONE	.	.	HAMAP:MF_01970,hmmpanther:PTHR14084,TIGRFAM_domain:TIGR01814,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF038800,Superfamily_domains:SSF53383	.	.	ENSP00000264170	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000264170	Transcript	.	.	ENSG00000115919	6469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.664)	.	deleterious(0.03)	.	KYNU_HUMAN	KYNU	HGNC	Q53SY0_HUMAN,Q53SX6_HUMAN	.	UPI000012E176	SNV	KYNU,missense_variant,p.Pro234Leu,ENST00000264170,;KYNU,missense_variant,p.Pro234Leu,ENST00000375773,;KYNU,missense_variant,p.Pro234Leu,ENST00000409512,;KYNU,downstream_gene_variant,,ENST00000460143,;	959	83	90	SUCCESS
PLA2R1	22925	.	GRCh37	2	160884730	160884730	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	128	357	0	ENST00000283243.7:c.1098T>A		p.X366_splice	ENST00000283243	NM_001195641.1	366	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33309.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCAACTAT	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10	.	.	ENSP00000283243	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,synonymous_variant,p.%3D,ENST00000283243,;PLA2R1,synonymous_variant,p.%3D,ENST00000392771,;	1305	357	287	SUCCESS
SLC38A11	151258	.	GRCh37	2	165793884	165793884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	97	0	ENST00000409149.3:c.425G>A	p.Arg142Lys	p.R142K	ENST00000409149	NM_001199148.1	142	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS56142.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCTTGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF54,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000386272	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000409149	Transcript	.	.	ENSG00000169507	26836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	tolerated(0.1)	.	S38AB_HUMAN	SLC38A11	HGNC	.	.	UPI0000E44805	SNV	SLC38A11,missense_variant,p.Arg142Lys,ENST00000409149,;SLC38A11,missense_variant,p.Arg17Lys,ENST00000424914,;SLC38A11,missense_variant,p.Arg142Lys,ENST00000409662,;SLC38A11,missense_variant,p.Arg173Lys,ENST00000409058,;SLC38A11,missense_variant,p.Arg120Lys,ENST00000303735,;SLC38A11,non_coding_transcript_exon_variant,,ENST00000493887,;SLC38A11,non_coding_transcript_exon_variant,,ENST00000465898,;	717	97	80	SUCCESS
TTC21B	79809	.	GRCh37	2	166781090	166781090	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	288	13	422	0	ENST00000243344.7:c.1485C>G	p.Val495=	p.V495=	ENST00000243344	NM_024753.4	495	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS33315.1	1485	MUTECT|MUSE	.	AGGAAGACTGT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000243344	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000243344	Transcript	.	.	ENSG00000123607	25660	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TT21B_HUMAN	TTC21B	HGNC	B3KU32_HUMAN	.	UPI000020900A	SNV	TTC21B,synonymous_variant,p.%3D,ENST00000243344,;TTC21B,downstream_gene_variant,,ENST00000464374,;	1623	422	301	SUCCESS
LRP2	4036	.	GRCh37	2	170062841	170062841	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	76	0	ENST00000263816.3:c.7389A>T		p.X2463_splice	ENST00000263816	NM_004525.2	2463	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2232.1	7389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTGAAGC	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	39/79	.	.	.	.	.	.	.	.	.	39/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,synonymous_variant,p.%3D,ENST00000263816,;	7675	76	65	SUCCESS
TTN	7273	.	GRCh37	2	179428033	179428033	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	122	0	ENST00000591111.1:c.77903T>A	p.Val25968Asp	p.V25968D	ENST00000591111		25968	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS59435.1	82826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGACCTCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val18669Asp,ENST00000359218,;TTN,missense_variant,p.Val25968Asp,ENST00000591111,;TTN,missense_variant,p.Val27609Asp,ENST00000589042,;TTN,missense_variant,p.Val18736Asp,ENST00000342175,;TTN,missense_variant,p.Val25041Asp,ENST00000342992,;TTN,missense_variant,p.Val18544Asp,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	83051	122	101	SUCCESS
TTN	7273	.	GRCh37	2	179436145	179436145	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	110	0	ENST00000591111.1:c.69791C>T	p.Pro23264Leu	p.P23264L	ENST00000591111		23264	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS59435.1	74714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGGATAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro15965Leu,ENST00000359218,;TTN,missense_variant,p.Pro23264Leu,ENST00000591111,;TTN,missense_variant,p.Pro24905Leu,ENST00000589042,;TTN,missense_variant,p.Pro16032Leu,ENST00000342175,;TTN,missense_variant,p.Pro22337Leu,ENST00000342992,;TTN,missense_variant,p.Pro15840Leu,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000438095,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	74939	110	93	SUCCESS
TTN	7273	.	GRCh37	2	179605680	179605680	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	85	0	ENST00000591111.1:c.11329T>A	p.Tyr3777Asn	p.Y3777N	ENST00000591111		3777	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS59435.1	12280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATAAGATA	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	48/363	.	.	.	.	.	.	.	.	.	48/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr3856Asn,ENST00000359218,;TTN,missense_variant,p.Tyr3923Asn,ENST00000342175,;TTN,missense_variant,p.Tyr4094Asn,ENST00000589042,;TTN,missense_variant,p.Tyr3777Asn,ENST00000591111,;TTN,missense_variant,p.Tyr3731Asn,ENST00000460472,;TTN,intron_variant,,ENST00000342992,;TTN,downstream_gene_variant,,ENST00000360870,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;	12505	85	73	SUCCESS
PARD3B	117583	.	GRCh37	2	205912302	205912302	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	69	0	ENST00000406610.2:c.395-2A>T		p.X132_splice	ENST00000406610	NM_205863.3	132		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42806.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGGCAC	NONE	.	.	.	.	.	ENSP00000351618	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358768	Transcript	.	.	ENSG00000116117	14446	.	.	HIGH	3/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR3L_HUMAN	PARD3B	HGNC	Q587I4_HUMAN,Q53TQ6_HUMAN,Q53TP8_HUMAN,Q53TL6_HUMAN,Q53TI4_HUMAN,Q53T65_HUMAN,Q53SN0_HUMAN,Q4ZG80_HUMAN	.	UPI000007201E	SNV	PARD3B,splice_acceptor_variant,,ENST00000349953,;PARD3B,splice_acceptor_variant,,ENST00000358768,;PARD3B,splice_acceptor_variant,,ENST00000406610,;PARD3B,splice_acceptor_variant,,ENST00000351153,;PARD3B,splice_acceptor_variant,,ENST00000462231,;PARD3B,splice_acceptor_variant,,ENST00000415947,;	.	69	46	SUCCESS
GLB1L	79411	.	GRCh37	2	220104515	220104515	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs752922483	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	83	201	0	ENST00000295759.7:c.762T>A	p.Tyr254Ter	p.Y254*	ENST00000295759	NM_001286423.1	254	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS2437.1	762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCATACTT	NONE	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF006336,Gene3D:3.20.20.80,Pfam_domain:PF01301,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF50	.	.	ENSP00000295759	.	8/17	.	.	.	.	.	.	.	.	rs752922483	8/17	PASS	ENST00000295759	Transcript	.	.	ENSG00000163521	28129	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLB1L_HUMAN	GLB1L	HGNC	C9JE41_HUMAN,C9J1Y9_HUMAN	.	UPI000003ED32	SNV	GLB1L,stop_gained,p.Tyr164Ter,ENST00000409640,;GLB1L,stop_gained,p.Tyr254Ter,ENST00000295759,;GLB1L,stop_gained,p.Tyr164Ter,ENST00000356283,;GLB1L,stop_gained,p.Tyr254Ter,ENST00000392089,;ANKZF1,downstream_gene_variant,,ENST00000410034,;ANKZF1,downstream_gene_variant,,ENST00000409849,;GLB1L,downstream_gene_variant,,ENST00000432839,;GLB1L,downstream_gene_variant,,ENST00000440853,;GLB1L,downstream_gene_variant,,ENST00000424620,;ANKZF1,downstream_gene_variant,,ENST00000323348,;GLB1L,downstream_gene_variant,,ENST00000428427,;GLB1L,non_coding_transcript_exon_variant,,ENST00000497855,;GLB1L,3_prime_UTR_variant,,ENST00000447002,;GLB1L,downstream_gene_variant,,ENST00000471516,;ANKZF1,downstream_gene_variant,,ENST00000460966,;GLB1L,downstream_gene_variant,,ENST00000459951,;ANKZF1,downstream_gene_variant,,ENST00000483188,;ANKZF1,downstream_gene_variant,,ENST00000477479,;ANKZF1,downstream_gene_variant,,ENST00000463792,;GLB1L,downstream_gene_variant,,ENST00000467548,;	1076	201	176	SUCCESS
SPEG	10290	.	GRCh37	2	220344852	220344852	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	55	0	ENST00000312358.7:c.5332A>T	p.Thr1778Ser	p.T1778S	ENST00000312358	NM_005876.4	1778	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS42824.1	5332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCACTGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000311684	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Thr1778Ser,ENST00000312358,;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	5464	55	36	SUCCESS
SLC4A3	6508	.	GRCh37	2	220501121	220501121	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	45	0	ENST00000317151.3:c.2289T>A	p.Leu763=	p.L763=	ENST00000317151		763	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2446.1	2370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTTGTGGT	NONE	.	.	TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Transmembrane_helices:TMhelix	.	.	ENSP00000362867	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,synonymous_variant,p.%3D,ENST00000373760,;SLC4A3,synonymous_variant,p.%3D,ENST00000273063,;SLC4A3,synonymous_variant,p.%3D,ENST00000317151,;SLC4A3,synonymous_variant,p.%3D,ENST00000358055,;SLC4A3,synonymous_variant,p.%3D,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	2639	45	33	SUCCESS
DGKD	8527	.	GRCh37	2	234296973	234296973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	82	313	0	ENST00000264057.2:c.227A>T	p.Lys76Met	p.K76M	ENST00000264057	NM_152879.2	76	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS2504.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAAGCTTC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000264057	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,missense_variant,p.Lys46Met,ENST00000447484,;DGKD,missense_variant,p.Lys76Met,ENST00000264057,;DGKD,missense_variant,p.Lys32Met,ENST00000409813,;DGKD,intron_variant,,ENST00000427930,;AC019221.4,non_coding_transcript_exon_variant,,ENST00000442524,;DGKD,non_coding_transcript_exon_variant,,ENST00000489613,;	239	313	195	SUCCESS
HJURP	55355	.	GRCh37	2	234750574	234750574	+	synonymous_variant	Silent	SNP	G	G	T	rs747885483	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	89	0	ENST00000411486.2:c.852C>A	p.Ser284=	p.S284=	ENST00000411486	NM_018410.3	284	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33406.1	852	MUTECT|MUSE	.	TTGGTGGAGAT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12346,hmmpanther:PTHR15992	.	.	ENSP00000414109	.	8/9	.	.	.	.	.	.	.	.	rs747885483	8/9	PASS	ENST00000411486	Transcript	.	.	ENSG00000123485	25444	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HJURP_HUMAN	HJURP	HGNC	.	.	UPI000013CB29	SNV	HJURP,synonymous_variant,p.%3D,ENST00000411486,;HJURP,synonymous_variant,p.%3D,ENST00000414924,;HJURP,synonymous_variant,p.%3D,ENST00000441687,;HJURP,synonymous_variant,p.%3D,ENST00000432087,;HJURP,synonymous_variant,p.%3D,ENST00000454020,;HJURP,non_coding_transcript_exon_variant,,ENST00000434039,;HJURP,upstream_gene_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000373395,;HJURP,downstream_gene_variant,,ENST00000453122,;	918	89	60	SUCCESS
HDLBP	3069	.	GRCh37	2	242181952	242181952	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	145	1	ENST00000391975.1:c.2092G>C	p.Asp698His	p.D698H	ENST00000391975	NM_203346.3	698	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS2547.1	2092	MUTECT|MUSE	.	GGTGTCGCTTC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000375836	.	17/28	.	.	.	.	.	.	.	.	COSM4093057,COSM4093058	17/28	PASS	ENST00000391975	Transcript	.	.	ENSG00000115677	4857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.697)	.	deleterious(0)	1,1	VIGLN_HUMAN	HDLBP	HGNC	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN	.	UPI00001AEF85	SNV	HDLBP,missense_variant,p.Asp698His,ENST00000310931,;HDLBP,missense_variant,p.Asp665His,ENST00000427183,;HDLBP,missense_variant,p.Asp507His,ENST00000373292,;HDLBP,missense_variant,p.Asp698His,ENST00000391976,;HDLBP,missense_variant,p.Asp86His,ENST00000427487,;HDLBP,missense_variant,p.Asp207His,ENST00000452931,;HDLBP,missense_variant,p.Asp698His,ENST00000391975,;AC104841.1,downstream_gene_variant,,ENST00000578965,;HDLBP,non_coding_transcript_exon_variant,,ENST00000471294,;HDLBP,upstream_gene_variant,,ENST00000483086,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000459788,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479169,;HDLBP,downstream_gene_variant,,ENST00000460826,;HDLBP,downstream_gene_variant,,ENST00000488923,;	2320	146	104	SUCCESS
C2orf16	84226	.	GRCh37	2	27804758	27804758	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs200680705	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	99	0	ENST00000408964.2:c.5319A>C	p.Arg1773Ser	p.R1773S	ENST00000408964	NM_032266.3	1773	agA/agC	0	.	C:0.0023	.	C:0	.	C	R/S	protein_coding	YES	CCDS42666.1	5319	RADIA|MUTECT|MUSE	.	AGAAGACATCG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	C:0.001	.	ENSP00000386190	C:0.001	1/1	.	.	.	.	.	.	.	.	rs200680705,COSM1660888,COSM1660887	1/1	PASS	ENST00000408964	Transcript	.	C:0.0030	ENSG00000221843	25275	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	benign(0.017)	C:0.0102	tolerated(0.89)	0,1,1	CB016_HUMAN	C2orf16	HGNC	.	.	UPI0000D61179	SNV	C2orf16,missense_variant,p.Arg1773Ser,ENST00000408964,;ZNF512,upstream_gene_variant,,ENST00000355467,;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,mature_miRNA_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	5370	100	67	SUCCESS
C2orf16	84226	.	GRCh37	2	27804762	27804762	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs572973586	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	98	0	ENST00000408964.2:c.5323C>T	p.Arg1775Cys	p.R1775C	ENST00000408964	NM_032266.3	1775	Cgc/Tgc	0	.	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS42666.1	5323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCGCAGT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0.001	.	ENSP00000386190	T:0	1/1	.	.	.	.	.	.	.	.	rs572973586,COSM1019811,COSM1019810	1/1	PASS	ENST00000408964	Transcript	.	T:0.0014	ENSG00000221843	25275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.052)	T:0.0051	tolerated(0.14)	0,1,1	CB016_HUMAN	C2orf16	HGNC	.	.	UPI0000D61179	SNV	C2orf16,missense_variant,p.Arg1775Cys,ENST00000408964,;ZNF512,upstream_gene_variant,,ENST00000355467,;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,mature_miRNA_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	5374	98	69	SUCCESS
TTC27	55622	.	GRCh37	2	33007745	33007745	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	112	376	0	ENST00000317907.4:c.1832A>T	p.Lys611Ile	p.K611I	ENST00000317907	NM_017735.4	611	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS33176.1	1832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAGTAAG	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR16193,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000313953	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000317907	Transcript	.	.	ENSG00000018699	25986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TTC27_HUMAN	TTC27	HGNC	C9JVS4_HUMAN,B4DRC7_HUMAN	.	UPI0000208226	SNV	TTC27,missense_variant,p.Lys611Ile,ENST00000317907,;TTC27,splice_region_variant,,ENST00000433416,;TTC27,splice_region_variant,,ENST00000428527,;	2063	376	271	SUCCESS
HEATR5B	54497	.	GRCh37	2	37255261	37255261	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	89	282	0	ENST00000233099.5:c.3658G>C	p.Asp1220His	p.D1220H	ENST00000233099	NM_019024.1	1220	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS33181.1	3658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCTTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663,Superfamily_domains:SSF48371	.	.	ENSP00000233099	.	24/36	.	.	.	.	.	.	.	.	.	24/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0.01)	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,missense_variant,p.Asp1220His,ENST00000233099,;HEATR5B,missense_variant,p.Asp1220His,ENST00000354531,;	3754	282	234	SUCCESS
SULT6B1	391365	.	GRCh37	2	37415605	37415605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	37	132	0	ENST00000535679.1:c.179T>A	p.Leu60Gln	p.L60Q	ENST00000535679		60	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33182.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTAGCACG	NONE	.	.	hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF55,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000260637	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000260637	Transcript	.	.	ENSG00000138068	33433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ST6B1_HUMAN	SULT6B1	HGNC	.	.	UPI0000041280	SNV	SULT6B1,missense_variant,p.Leu60Gln,ENST00000535679,;SULT6B1,missense_variant,p.Leu22Gln,ENST00000407963,;SULT6B1,missense_variant,p.Leu22Gln,ENST00000260637,;SULT6B1,missense_variant,p.Leu60Gln,ENST00000379149,;SULT6B1,downstream_gene_variant,,ENST00000433192,;SULT6B1,downstream_gene_variant,,ENST00000420611,;SULT6B1,downstream_gene_variant,,ENST00000416345,;	86	132	85	SUCCESS
VPS54	51542	.	GRCh37	2	64174560	64174560	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	320	12	563	0	ENST00000272322.4:c.1202A>T	p.Tyr401Phe	p.Y401F	ENST00000272322		401	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS33208.1	1202	MUTECT|MUSE	.	CACCATAGATT	NONE	.	.	hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965	.	.	ENSP00000272322	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.395)	.	tolerated(0.22)	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,missense_variant,p.Tyr401Phe,ENST00000272322,;VPS54,missense_variant,p.Tyr389Phe,ENST00000409558,;VPS54,intron_variant,,ENST00000354504,;	1357	563	332	SUCCESS
CD207	50489	.	GRCh37	2	71058314	71058314	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	91	0	ENST00000410009.3:c.854A>T	p.Glu285Val	p.E285V	ENST00000410009	NM_015717.3	285	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	.	854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTCACCT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF14,hmmpanther:PTHR22802,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000386378	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000410009	Transcript	.	.	ENSG00000116031	17935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CLC4K_HUMAN	CD207	HGNC	.	.	UPI0000410F0C	SNV	CD207,missense_variant,p.Glu285Val,ENST00000410009,;	900	91	86	SUCCESS
GGCX	2677	.	GRCh37	2	85780558	85780558	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	80	263	0	ENST00000233838.4:c.952A>T	p.Lys318Ter	p.K318*	ENST00000233838	NM_000821.5	318	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS1978.1	952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTCCGAG	NONE	.	.	hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639,Pfam_domain:PF05090	.	.	ENSP00000233838	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000233838	Transcript	.	.	ENSG00000115486	4247	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VKGC_HUMAN	GGCX	HGNC	.	.	UPI0000000DD6	SNV	GGCX,stop_gained,p.Lys318Ter,ENST00000233838,;GGCX,stop_gained,p.Lys261Ter,ENST00000430215,;GGCX,non_coding_transcript_exon_variant,,ENST00000473665,;GGCX,non_coding_transcript_exon_variant,,ENST00000482662,;GGCX,intron_variant,,ENST00000465637,;GGCX,downstream_gene_variant,,ENST00000423570,;GGCX,downstream_gene_variant,,ENST00000428479,;GGCX,downstream_gene_variant,,ENST00000421496,;	1033	263	202	SUCCESS
ASAP2	8853	.	GRCh37	2	9520899	9520899	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs542556113	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	22	38	0	ENST00000281419.3:c.1978A>T	p.Ile660Phe	p.I660F	ENST00000281419	NM_003887.2	660	Att/Ttt	0	.	G:0	.	G:0	.	T	I/F	protein_coding	YES	CCDS1661.1	1978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACATTGCC	NONE	by1000G	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,PROSITE_profiles:PS50297	G:0	.	ENSP00000281419	G:0	20/28	.	.	.	.	.	.	.	.	rs542556113	20/28	PASS	ENST00000281419	Transcript	.	G:0.0002	ENSG00000151693	2721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	G:0.001	deleterious(0.01)	.	ASAP2_HUMAN	ASAP2	HGNC	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN	.	UPI0000073459	SNV	ASAP2,missense_variant,p.Ile660Phe,ENST00000281419,;ASAP2,missense_variant,p.Ile660Phe,ENST00000315273,;	2318	38	38	SUCCESS
DZIP3	9666	.	GRCh37	3	108407715	108407715	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	118	324	0	ENST00000361582.3:c.3460A>T	p.Asn1154Tyr	p.N1154Y	ENST00000361582	NM_014648.3	1154	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS2952.1	3460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGAATCTG	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000355028	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	tolerated(0.28)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.Asn1154Tyr,ENST00000463306,;DZIP3,missense_variant,p.Asn1154Tyr,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	3690	324	257	SUCCESS
HRH1	3269	.	GRCh37	3	11300933	11300933	+	synonymous_variant	Silent	SNP	G	G	A	rs770524896	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	107	0	ENST00000397056.1:c.210G>A	p.Ser70=	p.S70=	ENST00000397056	NM_000861.3	70	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2604.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGGTGGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF244,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	rs770524896	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,synonymous_variant,p.%3D,ENST00000431010,;HRH1,synonymous_variant,p.%3D,ENST00000438284,;HRH1,synonymous_variant,p.%3D,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;	401	107	92	SUCCESS
MYLK	4638	.	GRCh37	3	123419013	123419013	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758217067	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	66	0	ENST00000360304.3:c.3302A>T	p.Lys1101Met	p.K1101M	ENST00000360304	NM_053025.3	1101	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS46896.1	3302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTTGAAG	BUFFER|p.A1099T|c.3295G>A|9	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000353452	.	18/34	.	.	.	.	.	.	.	.	rs758217067	18/34	PASS	ENST00000360304	Transcript	.	.	ENSG00000065534	7590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	deleterious(0.03)	.	MYLK_HUMAN	MYLK	HGNC	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN	.	UPI000020A0AE	SNV	MYLK,missense_variant,p.Lys1101Met,ENST00000360304,;MYLK,missense_variant,p.Lys1032Met,ENST00000346322,;MYLK,missense_variant,p.Lys1101Met,ENST00000360772,;MYLK,missense_variant,p.Lys1101Met,ENST00000475616,;MYLK,missense_variant,p.Lys1101Met,ENST00000359169,;MYLK,upstream_gene_variant,,ENST00000510775,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000504946,;	3584	66	35	SUCCESS
RPN1	6184	.	GRCh37	3	128356921	128356921	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	40	109	0	ENST00000296255.3:c.354A>T	p.Pro118=	p.P118=	ENST00000296255	NM_002950.3	118	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3051.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACTGGGAG	NONE	.	.	hmmpanther:PTHR21049,hmmpanther:PTHR21049:SF0,Pfam_domain:PF04597	.	.	ENSP00000296255	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000296255	Transcript	.	.	ENSG00000163902	10381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPN1_HUMAN	RPN1	HGNC	Q96HX3_HUMAN,B7Z4L4_HUMAN,B4DNJ5_HUMAN	.	UPI00001338BA	SNV	RPN1,synonymous_variant,p.%3D,ENST00000296255,;RPN1,5_prime_UTR_variant,,ENST00000497289,;RPN1,non_coding_transcript_exon_variant,,ENST00000479113,;RPN1,non_coding_transcript_exon_variant,,ENST00000495462,;RPN1,downstream_gene_variant,,ENST00000497415,;RPN1,3_prime_UTR_variant,,ENST00000476931,;	403	109	80	SUCCESS
ATR	545	.	GRCh37	3	142268433	142268433	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	200	162	446	0	ENST00000350721.4:c.3059A>T	p.Gln1020Leu	p.Q1020L	ENST00000350721	NM_001184.3	1020	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3124.1	3059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATTGTTTT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	15/47	.	.	.	.	.	.	.	.	.	15/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.26)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Gln956Leu,ENST00000383101,;ATR,missense_variant,p.Gln1020Leu,ENST00000350721,;	3181	446	363	SUCCESS
CPB1	1360	.	GRCh37	3	148558490	148558490	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	61	160	0	ENST00000282957.4:c.290T>A	p.Leu97Gln	p.L97Q	ENST00000282957	NM_001871.2	97	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS33874.1	290	RADIA|MUTECT|MUSE	.	CAACCTGAGAA	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897	.	.	ENSP00000417222	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000491148	Transcript	.	.	ENSG00000153002	2299	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	CBPB1_HUMAN	CPB1	HGNC	Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN	.	UPI00001271CD	SNV	CPB1,missense_variant,p.Leu97Gln,ENST00000468341,;CPB1,missense_variant,p.Leu97Gln,ENST00000282957,;CPB1,missense_variant,p.Leu97Gln,ENST00000491148,;CPB1,missense_variant,p.Leu97Gln,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	624	160	143	SUCCESS
RFTN1	23180	.	GRCh37	3	16450985	16450985	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	76	0	ENST00000334133.4:c.338A>T	p.Gln113Leu	p.Q113L	ENST00000334133	NM_015150.1	113	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33712.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGAGAT	NONE	.	.	hmmpanther:PTHR17601:SF3,hmmpanther:PTHR17601,Pfam_domain:PF15250	.	.	ENSP00000334153	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000334133	Transcript	.	.	ENSG00000131378	30278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	tolerated(0.14)	.	RFTN1_HUMAN	RFTN1	HGNC	C9JRN3_HUMAN,C9JWQ9_HUMAN,C9JHG2_HUMAN,B4E1H7_HUMAN	.	UPI00001C1DE7	SNV	RFTN1,missense_variant,p.Gln77Leu,ENST00000432519,;RFTN1,missense_variant,p.Gln113Leu,ENST00000334133,;RFTN1,missense_variant,p.Gln113Leu,ENST00000449415,;RFTN1,missense_variant,p.Gln113Leu,ENST00000451036,;RFTN1,missense_variant,p.Gln113Leu,ENST00000441460,;RFTN1,missense_variant,p.Gln113Leu,ENST00000431547,;RFTN1,non_coding_transcript_exon_variant,,ENST00000470458,;RFTN1,non_coding_transcript_exon_variant,,ENST00000484752,;RFTN1,non_coding_transcript_exon_variant,,ENST00000495666,;RFTN1,3_prime_UTR_variant,,ENST00000453536,;	611	76	68	SUCCESS
LAMP3	27074	.	GRCh37	3	182871558	182871558	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	116	0	ENST00000265598.3:c.671A>T	p.Lys224Met	p.K224M	ENST00000265598	NM_014398.3	224	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS3242.1	671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTTGACT	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF30,Pfam_domain:PF01299	.	.	ENSP00000265598	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000265598	Transcript	.	.	ENSG00000078081	14582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	LAMP3_HUMAN	LAMP3	HGNC	E7ETP9_HUMAN,C9JYP5_HUMAN,C9JDI8_HUMAN	.	UPI000006DB7A	SNV	LAMP3,missense_variant,p.Lys224Met,ENST00000265598,;LAMP3,missense_variant,p.Lys200Met,ENST00000466939,;LAMP3,downstream_gene_variant,,ENST00000470251,;LAMP3,downstream_gene_variant,,ENST00000476015,;LAMP3,downstream_gene_variant,,ENST00000486686,;	927	116	115	SUCCESS
MYD88	4615	.	GRCh37	3	38180513	38180513	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768726138	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	46	0	ENST00000396334.3:c.361A>T	p.Ser121Cys	p.S121C	ENST00000396334	NM_002468.4	121	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS54565.1	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGCATT	NONE	byFrequency	.	PROSITE_profiles:PS50017,hmmpanther:PTHR15079:SF2,hmmpanther:PTHR15079,Gene3D:1.10.533.10,PIRSF_domain:PIRSF037756,SMART_domains:SM00005,Superfamily_domains:SSF47986	.	.	ENSP00000401399	.	1/5	.	.	.	.	.	.	.	.	rs768726138	1/5	PASS	ENST00000417037	Transcript	.	.	ENSG00000172936	7562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	tolerated(0.19)	.	.	MYD88	HGNC	J3KQJ6_HUMAN,H0Y4G9_HUMAN	.	UPI0000E5A580	SNV	MYD88,missense_variant,p.Ser121Cys,ENST00000443433,;MYD88,missense_variant,p.Ser121Cys,ENST00000396334,;MYD88,missense_variant,p.Ser121Cys,ENST00000417037,;MYD88,missense_variant,p.Ser121Cys,ENST00000424893,;MYD88,missense_variant,p.Ser120Cys,ENST00000421516,;MYD88,missense_variant,p.Ser121Cys,ENST00000495303,;ACAA1,upstream_gene_variant,,ENST00000333167,;ACAA1,upstream_gene_variant,,ENST00000421218,;ACAA1,upstream_gene_variant,,ENST00000444607,;ACAA1,upstream_gene_variant,,ENST00000544624,;ACAA1,upstream_gene_variant,,ENST00000450296,;ACAA1,upstream_gene_variant,,ENST00000301810,;MYD88,upstream_gene_variant,,ENST00000463956,;MYD88,upstream_gene_variant,,ENST00000481122,;MYD88,non_coding_transcript_exon_variant,,ENST00000460295,;MYD88,non_coding_transcript_exon_variant,,ENST00000416282,;ACAA1,upstream_gene_variant,,ENST00000411549,;ACAA1,upstream_gene_variant,,ENST00000460424,;ACAA1,upstream_gene_variant,,ENST00000423611,;MYD88,upstream_gene_variant,,ENST00000484513,;ACAA1,upstream_gene_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000440176,;ACAA1,upstream_gene_variant,,ENST00000489559,;ACAA1,upstream_gene_variant,,ENST00000484284,;ACAA1,upstream_gene_variant,,ENST00000447223,;ACAA1,upstream_gene_variant,,ENST00000465181,;	545	46	39	SUCCESS
CSPG5	10675	.	GRCh37	3	47614356	47614356	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371926119	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	47	172	0	ENST00000383738.2:c.1202C>T	p.Thr401Met	p.T401M	ENST00000383738	NM_001206945.1	401	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS56253.1	1202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTGTTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15381,hmmpanther:PTHR15381:SF1	.	A:0.0001	ENSP00000373244	.	3/5	.	.	.	.	.	.	.	.	rs371926119	3/5	PASS	ENST00000383738	Transcript	.	.	ENSG00000114646	2467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CSPG5_HUMAN	CSPG5	HGNC	B7Z2E0_HUMAN	.	UPI0000D61AFE	SNV	CSPG5,missense_variant,p.Thr401Met,ENST00000264723,;CSPG5,missense_variant,p.Thr401Met,ENST00000383738,;CSPG5,missense_variant,p.Thr263Met,ENST00000456150,;CSPG5,downstream_gene_variant,,ENST00000465441,;	3301	172	110	SUCCESS
DHX30	22907	.	GRCh37	3	47889323	47889323	+	synonymous_variant	Silent	SNP	A	A	G	rs1002179549	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	172	0	ENST00000445061.1:c.2163A>G	p.Pro721=	p.P721=	ENST00000445061	NM_138615.2	721	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS2759.1	2163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAGTTGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934,PROSITE_profiles:PS51194	.	.	ENSP00000405620	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000445061	Transcript	.	.	ENSG00000132153	16716	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX30_HUMAN	DHX30	HGNC	H7BXY3_HUMAN	.	UPI000007112B	SNV	DHX30,synonymous_variant,p.%3D,ENST00000348968,;DHX30,synonymous_variant,p.%3D,ENST00000457607,;DHX30,synonymous_variant,p.%3D,ENST00000446256,;DHX30,synonymous_variant,p.%3D,ENST00000445061,;MAP4,downstream_gene_variant,,ENST00000426837,;MAP4,downstream_gene_variant,,ENST00000360240,;MAP4,downstream_gene_variant,,ENST00000441748,;MAP4,downstream_gene_variant,,ENST00000264724,;MAP4,downstream_gene_variant,,ENST00000335271,;MAP4,downstream_gene_variant,,ENST00000420772,;MAP4,downstream_gene_variant,,ENST00000429422,;MAP4,downstream_gene_variant,,ENST00000395734,;MAP4,downstream_gene_variant,,ENST00000383737,;MIR1226,upstream_gene_variant,,ENST00000408658,;DHX30,downstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,non_coding_transcript_exon_variant,,ENST00000474183,;	2570	172	105	SUCCESS
IL17RD	54756	.	GRCh37	3	57135384	57135384	+	synonymous_variant	Silent	SNP	T	T	A	rs143634778	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	60	0	ENST00000296318.7:c.987A>T	p.Ile329=	p.I329=	ENST00000296318	NM_017563.3	329	atA/atT	0	.	C:0	.	C:0	.	A	I	protein_coding	YES	CCDS2880.2	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATATATATT	NONE	by1000G	.	hmmpanther:PTHR15583:SF8,hmmpanther:PTHR15583	C:0.001	.	ENSP00000296318	C:0	11/13	.	.	.	.	.	.	.	.	rs143634778	11/13	PASS	ENST00000296318	Transcript	.	C:0.0002	ENSG00000144730	17616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	I17RD_HUMAN	IL17RD	HGNC	C9J6R0_HUMAN	.	UPI0000047CC3	SNV	IL17RD,synonymous_variant,p.%3D,ENST00000463523,;IL17RD,synonymous_variant,p.%3D,ENST00000320057,;IL17RD,synonymous_variant,p.%3D,ENST00000427856,;IL17RD,synonymous_variant,p.%3D,ENST00000296318,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	1076	60	54	SUCCESS
LHFPL4	375323	.	GRCh37	3	9547751	9547751	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	9	153	0	ENST00000287585.6:c.543C>G	p.Ile181Met	p.I181M	ENST00000287585	NM_198560.2	181	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS33691.1	543	MUTECT|MUSE|VARSCANS	.	CCGATGATGGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF14,Pfam_domain:PF10242	.	.	ENSP00000287585	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000287585	Transcript	.	.	ENSG00000156959	29568	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.812)	.	tolerated(0.07)	.	LHPL4_HUMAN	LHFPL4	HGNC	.	.	UPI000019B16A	SNV	LHFPL4,missense_variant,p.Ile181Met,ENST00000287585,;	829	153	114	SUCCESS
PRSS12	8492	.	GRCh37	4	119256640	119256640	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	101	0	ENST00000296498.3:c.808A>T	p.Ser270Cys	p.S270C	ENST00000296498	NM_003619.3	270	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS3709.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTACACG	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF19,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000296498	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000296498	Transcript	1	.	ENSG00000164099	9477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.01)	.	NETR_HUMAN	PRSS12	HGNC	.	.	UPI000013E34B	SNV	PRSS12,missense_variant,p.Ser270Cys,ENST00000296498,;	1091	101	88	SUCCESS
GUCY1A3	0	.	GRCh37	4	156634263	156634263	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	44	80	0	ENST00000296518.7:c.1100A>T	p.Lys367Ile	p.K367I	ENST00000296518		367	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS34085.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAAAGGCC	NONE	.	.	hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920,Pfam_domain:PF07701	.	.	ENSP00000296518	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000296518	Transcript	1	.	ENSG00000164116	4685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	GCYA3_HUMAN	GUCY1A3	HGNC	Q9NNW8_HUMAN,J3KPQ8_HUMAN	.	UPI0000033343	SNV	GUCY1A3,missense_variant,p.Lys367Ile,ENST00000506455,;GUCY1A3,missense_variant,p.Lys367Ile,ENST00000455639,;GUCY1A3,missense_variant,p.Lys367Ile,ENST00000513574,;GUCY1A3,missense_variant,p.Lys109Ile,ENST00000393832,;GUCY1A3,missense_variant,p.Lys367Ile,ENST00000296518,;GUCY1A3,missense_variant,p.Lys367Ile,ENST00000511507,;GUCY1A3,missense_variant,p.Lys367Ile,ENST00000511108,;GUCY1A3,downstream_gene_variant,,ENST00000515602,;GUCY1A3,3_prime_UTR_variant,,ENST00000443668,;GUCY1A3,intron_variant,,ENST00000515201,;GUCY1A3,intron_variant,,ENST00000509901,;GUCY1A3,downstream_gene_variant,,ENST00000512983,;	1309	80	53	SUCCESS
RXFP1	59350	.	GRCh37	4	159573014	159573014	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769650864	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	97	0	ENST00000307765.5:c.2081G>T	p.Arg694Leu	p.R694L	ENST00000307765	NM_001253728.1	694	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43276.1	2081	MUTECT|MUSE	.	TCATCGGTTTT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303248	.	18/18	.	.	.	.	.	.	.	.	rs769650864	18/18	PASS	ENST00000307765	Transcript	.	.	ENSG00000171509	19718	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.07)	.	RXFP1_HUMAN	RXFP1	HGNC	Q4W5D9_HUMAN,E9PCA3_HUMAN	.	UPI000013EC4B	SNV	RXFP1,missense_variant,p.Arg589Leu,ENST00000448688,;RXFP1,missense_variant,p.Arg661Leu,ENST00000470033,;RXFP1,missense_variant,p.Arg694Leu,ENST00000307765,;RXFP1,missense_variant,p.Arg613Leu,ENST00000460056,;RXFP1,missense_variant,p.Arg646Leu,ENST00000343542,;RXFP1,3_prime_UTR_variant,,ENST00000342048,;	2332	97	53	SUCCESS
SLC34A2	10568	.	GRCh37	4	25664328	25664328	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	rs199782502	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	48	128	1	ENST00000382051.3:c.114A>T		p.X38_splice	ENST00000382051	NM_006424.2	38	acA/acT	0	.	G:0	.	G:0.0014	.	T	T	protein_coding	YES	CCDS3435.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCAGATAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23	G:0	.	ENSP00000371483	G:0	3/13	.	.	.	.	.	.	.	.	rs199782502,CD064631	3/13	PASS	ENST00000382051	Transcript	1	G:0.0002	ENSG00000157765	11020	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	G:0	.	.	NPT2B_HUMAN	SLC34A2	HGNC	D6RBC0_HUMAN	.	UPI000013DF24	SNV	SLC34A2,splice_acceptor_variant,,ENST00000503434,;SLC34A2,splice_acceptor_variant,,ENST00000513204,;SLC34A2,splice_acceptor_variant,,ENST00000504570,;SLC34A2,synonymous_variant,p.%3D,ENST00000507530,;SLC34A2,synonymous_variant,p.%3D,ENST00000382051,;SLC34A2,upstream_gene_variant,,ENST00000510033,;	164	129	98	SUCCESS
CHRNA9	55584	.	GRCh37	4	40351387	40351387	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	51	191	0	ENST00000310169.2:c.854T>C	p.Met285Thr	p.M285T	ENST00000310169	NM_017581.3	285	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS3459.1	854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAATGGTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF214,hmmpanther:PTHR18945,Pfam_domain:PF02932,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	.	.	ENSP00000312663	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000310169	Transcript	.	.	ENSG00000174343	14079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	deleterious(0)	.	ACHA9_HUMAN	CHRNA9	HGNC	.	.	UPI000013EFB8	SNV	CHRNA9,missense_variant,p.Met285Thr,ENST00000310169,;CHRNA9,upstream_gene_variant,,ENST00000509518,;CHRNA9,downstream_gene_variant,,ENST00000502377,;	993	191	150	SUCCESS
PDGFRA	5156	.	GRCh37	4	55127497	55127497	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	49	108	0	ENST00000257290.5:c.285A>T	p.Thr95=	p.T95=	ENST00000257290	NM_006206.4	95	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3495.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACAGGGTT	NONE	.	.	PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726,Prints_domain:PR01832	.	.	ENSP00000257290	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	PDGFRA,synonymous_variant,p.%3D,ENST00000508170,;PDGFRA,synonymous_variant,p.%3D,ENST00000512522,;PDGFRA,synonymous_variant,p.%3D,ENST00000504461,;PDGFRA,synonymous_variant,p.%3D,ENST00000257290,;PDGFRA,synonymous_variant,p.%3D,ENST00000503856,;PDGFRA,synonymous_variant,p.%3D,ENST00000512143,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,synonymous_variant,p.%3D,ENST00000509490,;PDGFRA,intron_variant,,ENST00000509092,;	616	108	108	SUCCESS
EVC2	132884	.	GRCh37	4	5570231	5570231	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	79	0	ENST00000344408.5:c.3497A>T	p.His1166Leu	p.H1166L	ENST00000344408	NM_147127.4	1166	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS3382.2	3497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGTCTC	BUFFER|p.H1169H|c.3507C>T|3	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.478)	.	tolerated(0.06)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.His1166Leu,ENST00000344938,;EVC2,missense_variant,p.His1086Leu,ENST00000310917,;EVC2,missense_variant,p.His1166Leu,ENST00000344408,;EVC2,missense_variant,p.His1086Leu,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	3551	79	76	SUCCESS
CRMP1	1400	.	GRCh37	4	5868428	5868428	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	108	0	ENST00000397890.2:c.95A>T	p.Tyr32Phe	p.Y32F	ENST00000397890	NM_001313.3	32	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS33950.1	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATAAAGG	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51338	.	.	ENSP00000321606	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.4)	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	SNV	CRMP1,missense_variant,p.Tyr30Phe,ENST00000512574,;CRMP1,missense_variant,p.Tyr146Phe,ENST00000324989,;CRMP1,missense_variant,p.Tyr32Phe,ENST00000397890,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	526	108	107	SUCCESS
WDFY3	23001	.	GRCh37	4	85678264	85678264	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	69	207	0	ENST00000295888.4:c.5239A>T	p.Asn1747Tyr	p.N1747Y	ENST00000295888	NM_014991.4	1747	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS3609.1	5239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTTAATCT	NONE	.	.	hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	33/68	.	.	.	.	.	.	.	.	.	33/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.79)	.	deleterious(0.02)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Asn1747Tyr,ENST00000295888,;WDFY3,missense_variant,p.Asn1747Tyr,ENST00000322366,;WDFY3,upstream_gene_variant,,ENST00000509825,;	5647	207	152	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86491791	86491791	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1162456065	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	64	160	1	ENST00000395184.1:c.97G>T	p.Val33Phe	p.V33F	ENST00000395184	NM_001025616.2	33	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS34025.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTGTCAAG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000378611	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	deleterious(0)	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,missense_variant,p.Val33Phe,ENST00000503995,;ARHGAP24,missense_variant,p.Val33Phe,ENST00000395184,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000506421,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000505856,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000509709,;	563	161	125	SUCCESS
SLC25A48	153328	.	GRCh37	5	135188296	135188296	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	68	0	ENST00000412661.2:c.207T>A	p.Ile69=	p.I69=	ENST00000412661	NM_145282.4	69	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS43366.2	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATTGCCGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF229,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926	.	.	ENSP00000413049	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000412661	Transcript	.	.	ENSG00000145832	30451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2548_HUMAN	SLC25A48	HGNC	.	.	UPI000006FF97	SNV	SLC25A48,synonymous_variant,p.%3D,ENST00000420621,;SLC25A48,synonymous_variant,p.%3D,ENST00000433282,;SLC25A48,synonymous_variant,p.%3D,ENST00000412661,;SLC25A48,synonymous_variant,p.%3D,ENST00000274513,;SLC25A48,intron_variant,,ENST00000425402,;SLC25A48,missense_variant,p.Cys56Ser,ENST00000462340,;	328	68	76	SUCCESS
DNAH5	1767	.	GRCh37	5	13737537	13737537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	84	0	ENST00000265104.4:c.11279T>A	p.Leu3760Gln	p.L3760Q	ENST00000265104	NM_001369.2	3760	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS3882.1	11279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTAGTTCC	BUFFER|p.R3756R|c.11268G>A|3	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	66/79	.	.	.	.	.	.	.	.	.	66/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Leu3760Gln,ENST00000265104,;	11384	84	76	SUCCESS
PCDHGB1	56104	.	GRCh37	5	140730033	140730033	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	56	148	0	ENST00000523390.1:c.206A>T	p.Glu69Val	p.E69V	ENST00000523390	NM_018922.2	69	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54923.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGAGGATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429273	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000523390	Transcript	.	.	ENSG00000254221	8708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0.03)	.	PCDGD_HUMAN	PCDHGB1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073588	SNV	PCDHGB1,missense_variant,p.Glu69Val,ENST00000523390,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA4,upstream_gene_variant,,ENST00000571252,;	206	148	121	SUCCESS
ARAP3	64411	.	GRCh37	5	141038013	141038013	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	116	0	ENST00000239440.4:c.3445A>T	p.Asn1149Tyr	p.N1149Y	ENST00000239440	NM_022481.5	1149	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS4266.1	3445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTTAGTCA	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9,Gene3D:3.10.20.90,Pfam_domain:PF00788,Superfamily_domains:SSF54236	.	.	ENSP00000239440	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,missense_variant,p.Asn980Tyr,ENST00000508305,;ARAP3,missense_variant,p.Asn1149Tyr,ENST00000239440,;ARAP3,missense_variant,p.Asn811Tyr,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	3511	116	96	SUCCESS
HMMR	3161	.	GRCh37	5	162917465	162917465	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	143	413	0	ENST00000358715.3:c.2029A>T	p.Asn677Tyr	p.N677Y	ENST00000358715		677	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS47334.1	2032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGAATAAA	NONE	.	.	hmmpanther:PTHR18956	.	.	ENSP00000377492	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000393915	Transcript	.	.	ENSG00000072571	5012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	tolerated(0.22)	.	HMMR_HUMAN	HMMR	HGNC	E5RIH2_HUMAN,E5RI30_HUMAN,E3W978_HUMAN,B9UCQ3_HUMAN	.	UPI00001AE676	SNV	HMMR,missense_variant,p.Asn677Tyr,ENST00000358715,;HMMR,missense_variant,p.Asn591Tyr,ENST00000432118,;HMMR,missense_variant,p.Asn662Tyr,ENST00000353866,;HMMR,missense_variant,p.Asn678Tyr,ENST00000393915,;RP11-80G7.1,intron_variant,,ENST00000521666,;RP11-80G7.1,intron_variant,,ENST00000514724,;	2175	413	350	SUCCESS
MYO10	4651	.	GRCh37	5	16779678	16779678	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1006634181	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	78	283	0	ENST00000513610.1:c.906C>G	p.Asp302Glu	p.D302E	ENST00000513610	NM_012334.2	302	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS54834.1	906	RADIA|MUTECT|MUSE	.	TCCTGGTCACT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	9/41	.	.	.	.	.	.	.	.	.	9/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Asp313Glu,ENST00000513882,;MYO10,missense_variant,p.Asp302Glu,ENST00000513610,;MYO10,downstream_gene_variant,,ENST00000502436,;	1361	284	187	SUCCESS
MYO10	4651	.	GRCh37	5	16779718	16779718	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	92	274	0	ENST00000513610.1:c.866T>A	p.Leu289Ter	p.L289*	ENST00000513610	NM_012334.2	289	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS54834.1	866	RADIA|MUTECT|MUSE	.	GATTCAAGTAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	9/41	.	.	.	.	.	.	.	.	.	9/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,stop_gained,p.Leu300Ter,ENST00000513882,;MYO10,stop_gained,p.Leu289Ter,ENST00000513610,;MYO10,downstream_gene_variant,,ENST00000502436,;	1321	274	202	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178553054	178553054	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	55	0	ENST00000251582.7:c.2695T>A	p.Ser899Thr	p.S899T	ENST00000251582	NM_014244.4	899	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS4444.1	2695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGAGAGGG	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Pfam_domain:PF00090,Gene3D:2.20.100.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50092	.	.	ENSP00000251582	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.05)	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,missense_variant,p.Ser899Thr,ENST00000251582,;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000523450,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;	2797	55	29	SUCCESS
PARP8	79668	.	GRCh37	5	50129842	50129842	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	121	323	1	ENST00000281631.5:c.2337C>T	p.Phe779=	p.F779=	ENST00000281631	NM_024615.3	779	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS3954.1	2337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCCTGCA	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:3.90.228.10,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3,PROSITE_profiles:PS51059	.	.	ENSP00000281631	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000281631	Transcript	.	.	ENSG00000151883	26124	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP8_HUMAN	PARP8	HGNC	D6RGZ9_HUMAN	.	UPI0000073D19	SNV	PARP8,missense_variant,p.Pro491Ser,ENST00000514342,;PARP8,synonymous_variant,p.%3D,ENST00000503750,;PARP8,synonymous_variant,p.%3D,ENST00000514067,;PARP8,synonymous_variant,p.%3D,ENST00000505697,;PARP8,synonymous_variant,p.%3D,ENST00000281631,;PARP8,synonymous_variant,p.%3D,ENST00000505554,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;	2495	325	268	SUCCESS
RAB3C	115827	.	GRCh37	5	58120945	58120945	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754858843	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	129	420	0	ENST00000282878.4:c.452G>T	p.Arg151Leu	p.R151L	ENST00000282878	NM_138453.2	151	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3976.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCGGGTCA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF445,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,Superfamily_domains:SSF52540	.	.	ENSP00000282878	.	4/5	.	.	.	.	.	.	.	.	rs754858843	4/5	PASS	ENST00000282878	Transcript	.	.	ENSG00000152932	30269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	RAB3C_HUMAN	RAB3C	HGNC	.	.	UPI0000133178	SNV	RAB3C,missense_variant,p.Arg151Leu,ENST00000282878,;RAB3C,non_coding_transcript_exon_variant,,ENST00000381158,;RPL5P15,downstream_gene_variant,,ENST00000475870,;	621	420	322	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60839300	60839300	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	49	0	ENST00000252744.5:c.2804G>T	p.Ser935Ile	p.S935I	ENST00000252744	NM_020928.1	935	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47215.1	2804	MUTECT|MUSE	.	GGACAGCATCA	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.187)	.	deleterious(0.03)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Ser935Ile,ENST00000252744,;	2804	49	44	SUCCESS
BEND3	57673	.	GRCh37	6	107390113	107390113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	155	0	ENST00000369042.1:c.2282A>T	p.Tyr761Phe	p.Y761F	ENST00000369042		761	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS34507.1	2282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTACTGC	NONE	.	.	SMART_domains:SM01025,Pfam_domain:PF10523,PROSITE_profiles:PS51457	.	.	ENSP00000411268	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429433	Transcript	.	.	ENSG00000178409	23040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	SNV	BEND3,missense_variant,p.Tyr761Phe,ENST00000429433,;BEND3,missense_variant,p.Tyr761Phe,ENST00000369042,;	2932	155	98	SUCCESS
PHACTR1	221692	.	GRCh37	6	13053698	13053698	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	62	169	0	ENST00000332995.7:c.352A>T	p.Arg118Trp	p.R118W	ENST00000332995		118	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	.	.	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAAGGATT	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF6	.	.	ENSP00000368655	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000379350	Transcript	.	.	ENSG00000112137	20990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0)	.	PHAR1_HUMAN	PHACTR1	HGNC	.	.	UPI000020D534	SNV	PHACTR1,missense_variant,p.Arg118Trp,ENST00000379350,;PHACTR1,missense_variant,p.Arg4Trp,ENST00000434977,;PHACTR1,missense_variant,p.Arg118Trp,ENST00000332995,;PHACTR1,missense_variant,p.Arg154Trp,ENST00000406205,;PHACTR1,5_prime_UTR_variant,,ENST00000379345,;PHACTR1,5_prime_UTR_variant,,ENST00000457702,;PHACTR1,non_coding_transcript_exon_variant,,ENST00000482982,;	481	169	221	SUCCESS
TAAR1	134864	.	GRCh37	6	132966654	132966654	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	45	106	0	ENST00000275216.1:c.489A>T	p.Leu163=	p.L163=	ENST00000275216	NM_138327.1	163	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5158.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTAGCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF220,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000275216	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000275216	Transcript	.	.	ENSG00000146399	17734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAAR1_HUMAN	TAAR1	HGNC	.	.	UPI000000D874	SNV	TAAR1,synonymous_variant,p.%3D,ENST00000275216,;	489	106	102	SUCCESS
NUP153	9972	.	GRCh37	6	17616802	17616802	+	synonymous_variant	Silent	SNP	C	C	A	rs563893774	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	102	0	ENST00000262077.2:c.4299G>T	p.Ser1433=	p.S1433=	ENST00000262077	NM_001278210.1	1433	tcG/tcT	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS4541.1	4299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCGAGCC	NONE	byFrequency|by1000G	.	Pfam_domain:PF10599,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	T:0.004	.	ENSP00000262077	T:0	21/22	.	.	.	.	.	.	.	.	rs563893774	21/22	PASS	ENST00000262077	Transcript	.	T:0.0008	ENSG00000124789	8062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,synonymous_variant,p.%3D,ENST00000537253,;NUP153,synonymous_variant,p.%3D,ENST00000262077,;FAM8A1,downstream_gene_variant,,ENST00000259963,;RNU6-190P,upstream_gene_variant,,ENST00000384154,;	4299	102	89	SUCCESS
PPP1R11	6992	.	GRCh37	6	30035217	30035217	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	75	210	0	ENST00000376772.3:c.30G>T	p.Glu10Asp	p.E10D	ENST00000376772	NM_021959.2	10	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS4671.1	30	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAGACCGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20835	.	.	ENSP00000365963	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376772	Transcript	.	.	ENSG00000204619	9285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.07)	.	PP1RB_HUMAN	PPP1R11	HGNC	Q5SRK2_HUMAN,A2BEK1_HUMAN	.	UPI000000D734	SNV	PPP1R11,missense_variant,p.Glu10Asp,ENST00000376772,;PPP1R11,5_prime_UTR_variant,,ENST00000376769,;PPP1R11,intron_variant,,ENST00000376773,;RNF39,downstream_gene_variant,,ENST00000376751,;ZNRD1,downstream_gene_variant,,ENST00000359374,;RNF39,downstream_gene_variant,,ENST00000244360,;PPP1R11,upstream_gene_variant,,ENST00000376763,;PPP1R11,upstream_gene_variant,,ENST00000376765,;PPP1R11,upstream_gene_variant,,ENST00000376758,;ZNRD1,downstream_gene_variant,,ENST00000332435,;ZNRD1,downstream_gene_variant,,ENST00000376782,;ZNRD1,downstream_gene_variant,,ENST00000376785,;ZNRD1,downstream_gene_variant,,ENST00000463141,;ZNRD1,downstream_gene_variant,,ENST00000471008,;	353	210	163	SUCCESS
SFTA2	389376	.	GRCh37	6	30899302	30899302	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	111	0	ENST00000359086.3:c.200A>G	p.His67Arg	p.H67R	ENST00000359086	NM_205854.2	67	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS4691.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCATGGTGG	NONE	.	.	Pfam_domain:PF15210	.	.	ENSP00000351989	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000359086	Transcript	.	.	ENSG00000196260	18386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	tolerated(0.15)	.	SFTA2_HUMAN	SFTA2	HGNC	.	.	UPI00000389E6	SNV	SFTA2,missense_variant,p.His67Arg,ENST00000359086,;Y_RNA,downstream_gene_variant,,ENST00000516952,;SFTA2,non_coding_transcript_exon_variant,,ENST00000474914,;	279	111	86	SUCCESS
COL11A2	1302	.	GRCh37	6	33144064	33144064	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61730262	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	103	0	ENST00000374708.4:c.1928G>A	p.Arg643Gln	p.R643Q	ENST00000374708	NM_080681.2	643	cGg/cAg	0	T:0.0093	T:0.0159	.	T:0.0014	.	T	R/Q	protein_coding	YES	CCDS43452.1	1928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	benign	GACCCCGAATT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	T:0	T:0	ENSP00000363840	T:0	26/64	.	.	.	.	.	.	.	.	rs61730262	26/64	common_in_exac	ENST00000374708	Transcript	.	T:0.0044	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	T:0	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.Arg669Gln,ENST00000395197,;COL11A2,missense_variant,p.Arg682Gln,ENST00000374713,;COL11A2,missense_variant,p.Arg622Gln,ENST00000361917,;COL11A2,missense_variant,p.Arg648Gln,ENST00000374712,;COL11A2,missense_variant,p.Arg708Gln,ENST00000357486,;COL11A2,missense_variant,p.Arg643Gln,ENST00000374708,;COL11A2,missense_variant,p.Arg729Gln,ENST00000341947,;COL11A2,missense_variant,p.Arg703Gln,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	2187	103	89	SUCCESS
DNAH8	1769	.	GRCh37	6	38697676	38697676	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	122	0	ENST00000359357.3:c.-41-4574A>T		p.*14*	ENST00000359357				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACAGCTGG	NONE	.	.	.	.	.	ENSP00000352312	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODIFIER	2/90	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,splice_acceptor_variant,,ENST00000327475,;DNAH8,splice_acceptor_variant,,ENST00000373278,;DNAH8,splice_acceptor_variant,,ENST00000449981,;DNAH8,intron_variant,,ENST00000359357,;DNAH8,upstream_gene_variant,,ENST00000441566,;	.	122	86	SUCCESS
CDYL	9425	.	GRCh37	6	4937882	4937882	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	117	144	0	ENST00000328908.5:c.1194C>G	p.Val398=	p.V398=	ENST00000328908		398	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4491.2	1032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCTTCTG	NONE	.	.	hmmpanther:PTHR11941:SF11,hmmpanther:PTHR11941,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000380718	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,synonymous_variant,p.%3D,ENST00000449732,;CDYL,synonymous_variant,p.%3D,ENST00000440139,;CDYL,synonymous_variant,p.%3D,ENST00000397588,;CDYL,synonymous_variant,p.%3D,ENST00000343762,;CDYL,synonymous_variant,p.%3D,ENST00000328908,;CDYL,non_coding_transcript_exon_variant,,ENST00000472453,;CDYL,non_coding_transcript_exon_variant,,ENST00000469671,;	1381	144	198	SUCCESS
RPP40	10799	.	GRCh37	6	4996253	4996253	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	48	145	0	ENST00000380051.2:c.825A>T	p.Lys275Asn	p.K275N	ENST00000380051	NM_006638.2	275	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34333.1	825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGCTTTTGC	NONE	.	.	hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1,Pfam_domain:PF08584	.	.	ENSP00000369391	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000380051	Transcript	.	.	ENSG00000124787	20992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.09)	.	RPP40_HUMAN	RPP40	HGNC	.	.	UPI000020E473	SNV	RPP40,missense_variant,p.Lys252Asn,ENST00000319533,;RPP40,missense_variant,p.Lys215Asn,ENST00000464646,;RPP40,missense_variant,p.Lys275Asn,ENST00000380051,;RPP40,downstream_gene_variant,,ENST00000479782,;RPP40,downstream_gene_variant,,ENST00000468105,;	870	145	196	SUCCESS
LCA5	167691	.	GRCh37	6	80196733	80196733	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	50	0	ENST00000369846.4:c.2082A>T	p.Val694=	p.V694=	ENST00000369846	NM_001122769.2	694	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4990.1	2082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTACTTC	NONE	.	.	hmmpanther:PTHR16650:SF8,hmmpanther:PTHR16650	.	.	ENSP00000376686	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,synonymous_variant,p.%3D,ENST00000369846,;LCA5,synonymous_variant,p.%3D,ENST00000392959,;LCA5,downstream_gene_variant,,ENST00000467898,;	2694	50	63	SUCCESS
MET	4233	.	GRCh37	7	116423438	116423438	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1562935856	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	53	115	0	ENST00000397752.3:c.3713A>T	p.His1238Leu	p.H1238L	ENST00000397752	NM_000245.2	1238	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS47689.1	3767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACACAACA	BUFFER|p.Y1253D|c.3757T>G|47	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF261,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000617,Superfamily_domains:SSF56112	.	.	ENSP00000317272	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000318493	Transcript	.	.	ENSG00000105976	7029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	MET_HUMAN	MET	HGNC	Q9UEJ3_HUMAN,B4DPY6_HUMAN	.	UPI000014033E	SNV	MET,missense_variant,p.His108Leu,ENST00000539704,;MET,missense_variant,p.His1256Leu,ENST00000318493,;MET,missense_variant,p.His1238Leu,ENST00000397752,;	3954	115	128	SUCCESS
LEP	3952	.	GRCh37	7	127894673	127894673	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	73	0	ENST00000308868.4:c.361T>A	p.Trp121Arg	p.W121R	ENST00000308868	NM_000230.2	121	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS5800.1	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGGGCC	NONE	.	.	hmmpanther:PTHR11724,Gene3D:1.20.1250.10,Pfam_domain:PF02024,PIRSF_domain:PIRSF001837,Superfamily_domains:SSF47266	.	.	ENSP00000312652	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308868	Transcript	.	.	ENSG00000174697	6553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.88)	.	LEP_HUMAN	LEP	HGNC	A4D0Y8_HUMAN,Q4TVR7_HUMAN	.	UPI00000308D4	SNV	LEP,missense_variant,p.Trp121Arg,ENST00000308868,;	412	73	47	SUCCESS
ZNF767	0	.	GRCh37	7	149317021	149317021	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	100	0	ENST00000463567.1:n.594A>T		p.*198*	ENST00000463567				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	TGGACTGGGGT	NONE	.	.	.	.	.	.	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000463567	Transcript	.	.	ENSG00000133624	21884	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF767	HGNC	.	.	.	SNV	ZNF767,non_coding_transcript_exon_variant,,ENST00000472212,;ZNF767,non_coding_transcript_exon_variant,,ENST00000481762,;ZNF767,non_coding_transcript_exon_variant,,ENST00000463567,;ZNF767,non_coding_transcript_exon_variant,,ENST00000486492,;ZNF767,non_coding_transcript_exon_variant,,ENST00000493198,;ZNF767,non_coding_transcript_exon_variant,,ENST00000513792,;	594	100	87	SUCCESS
SSPO	0	.	GRCh37	7	149488699	149488699	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs748177413	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	61	0	ENST00000378016.2:n.5150G>T		p.*1717*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGAGCC	NONE	byFrequency	.	.	.	.	.	.	34/109	.	.	.	.	.	.	.	.	rs748177413	34/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,upstream_gene_variant,,ENST00000472797,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	5150	61	50	SUCCESS
LRRC61	65999	.	GRCh37	7	150033922	150033922	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	26	0	ENST00000323078.7:c.-29C>A		p.*10*	ENST00000323078	NM_023942.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5901.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCAGG	NONE	.	.	.	.	.	ENSP00000352642	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000359623	Transcript	.	.	ENSG00000127399	21704	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC61_HUMAN	LRRC61	HGNC	.	.	UPI000006F2E8	SNV	LRRC61,5_prime_UTR_variant,,ENST00000359623,;LRRC61,5_prime_UTR_variant,,ENST00000323078,;LRRC61,5_prime_UTR_variant,,ENST00000493307,;RARRES2,downstream_gene_variant,,ENST00000482669,;RARRES2,downstream_gene_variant,,ENST00000223271,;ZBED6CL,downstream_gene_variant,,ENST00000343855,;RARRES2,downstream_gene_variant,,ENST00000467793,;RARRES2,downstream_gene_variant,,ENST00000466675,;RP4-584D14.7,upstream_gene_variant,,ENST00000563946,;RARRES2,downstream_gene_variant,,ENST00000478771,;	560	26	19	SUCCESS
MAD1L1	8379	.	GRCh37	7	2020106	2020106	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	57	0	ENST00000265854.7:c.1487A>T	p.Glu496Val	p.E496V	ENST00000265854		496	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43539.1	1487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCCCTG	NONE	.	.	hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0,Pfam_domain:PF05557,Superfamily_domains:0053432	.	.	ENSP00000385334	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000406869	Transcript	.	.	ENSG00000002822	6762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	MD1L1_HUMAN	MAD1L1	HGNC	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN	.	UPI0000072C4D	SNV	MAD1L1,missense_variant,p.Glu496Val,ENST00000406869,;MAD1L1,missense_variant,p.Glu404Val,ENST00000402746,;MAD1L1,missense_variant,p.Glu47Val,ENST00000450235,;MAD1L1,missense_variant,p.Glu496Val,ENST00000265854,;MAD1L1,missense_variant,p.Glu496Val,ENST00000399654,;MAD1L1,missense_variant,p.Glu163Val,ENST00000438959,;MAD1L1,downstream_gene_variant,,ENST00000444373,;	2045	57	61	SUCCESS
ABCB5	340273	.	GRCh37	7	20662900	20662900	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	497	15	604	0	ENST00000404938.2:c.-9G>C		p.*3*	ENST00000404938	NM_001163941.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55090.1	.	MUTECT|MUSE	.	AAATTGTAAAT	NONE	.	.	.	.	.	ENSP00000384881	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,5_prime_UTR_variant,,ENST00000404938,;	644	604	512	SUCCESS
DNAH11	8701	.	GRCh37	7	21857905	21857905	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	48	115	0	ENST00000409508.3:c.10639A>T	p.Ile3547Leu	p.I3547L	ENST00000409508	NM_001277115.1	3547	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	.	10660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACGATAGAT	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000330671	.	66/83	.	.	.	.	.	.	.	.	.	66/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,missense_variant,p.Ile3554Leu,ENST00000328843,;DNAH11,missense_variant,p.Ile3547Leu,ENST00000409508,;	10691	115	101	SUCCESS
AQP1	358	.	GRCh37	7	30961780	30961780	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs546847577	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	36	0	ENST00000311813.4:c.484C>T	p.Arg162Cys	p.R162C	ENST00000311813	NM_198098.2	162	Cgt/Tgt	0	.	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS5431.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCCGTGAC	NONE	by1000G	.	hmmpanther:PTHR19139:SF33,hmmpanther:PTHR19139,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Pfam_domain:PF00230,Superfamily_domains:SSF81338	T:0	.	ENSP00000311165	T:0	2/4	.	.	.	.	.	.	.	.	rs546847577	2/4	PASS	ENST00000311813	Transcript	.	T:0.0002	ENSG00000240583	633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.681)	T:0.001	deleterious(0.05)	.	AQP1_HUMAN	AQP1	HGNC	Q6JSD7_HUMAN,B4DNW4_HUMAN	.	UPI000005339A	SNV	AQP1,missense_variant,p.Arg47Cys,ENST00000409899,;AQP1,missense_variant,p.Arg162Cys,ENST00000311813,;AQP1,missense_variant,p.Arg79Cys,ENST00000441328,;AQP1,missense_variant,p.Arg339Cys,ENST00000509504,;AQP1,missense_variant,p.Arg111Cys,ENST00000409611,;AQP1,missense_variant,p.Arg222Cys,ENST00000434909,;AQP1,non_coding_transcript_exon_variant,,ENST00000482461,;	539	36	51	SUCCESS
CCDC129	0	.	GRCh37	7	31614332	31614332	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1197993872	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	166	0	ENST00000451887.2:c.652G>A	p.Asp218Asn	p.D218N	ENST00000451887	NM_001257968.1	218	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS59050.1	652	MUTECT|MUSE	.	GAATGGACATT	BUFFER|p.R190Q|c.569G>A|3,BUFFER|p.R190Q|c.569G>A|3	.	.	Pfam_domain:PF14722,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.515)	.	tolerated(0.06)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Asp192Asn,ENST00000319386,;CCDC129,missense_variant,p.Asp100Asn,ENST00000409210,;CCDC129,missense_variant,p.Asp218Asn,ENST00000451887,;CCDC129,missense_variant,p.Asp192Asn,ENST00000407970,;CCDC129,downstream_gene_variant,,ENST00000454513,;CCDC129,downstream_gene_variant,,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,downstream_gene_variant,,ENST00000482748,;	664	166	148	SUCCESS
DPY19L1	23333	.	GRCh37	7	35077464	35077464	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	27	0	ENST00000310974.4:c.45T>A	p.Pro15=	p.P15=	ENST00000310974	NM_015283.1	15	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43567.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGAGGACG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	.	.	ENSP00000308695	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000310974	Transcript	.	.	ENSG00000173852	22205	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,synonymous_variant,p.%3D,ENST00000310974,;DPY19L1,intron_variant,,ENST00000481923,;	190	27	18	SUCCESS
RSPH10B	222967	.	GRCh37	7	6000480	6000480	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	98	196	0	ENST00000337579.3:c.415A>T	p.Asn139Tyr	p.N139Y	ENST00000337579		139	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS34598.1	415	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATTCTTCA	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF131,Pfam_domain:PF02493,Gene3D:1h3iA01,SMART_domains:SM00698,Superfamily_domains:0038399	.	.	ENSP00000385443	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000405415	Transcript	.	.	ENSG00000155026	27362	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	R10B1_HUMAN	RSPH10B	HGNC	C9JJN2_HUMAN	.	UPI000020EAA5	SNV	RSPH10B,missense_variant,p.Asn139Tyr,ENST00000441023,;RSPH10B,missense_variant,p.Asn139Tyr,ENST00000337579,;RSPH10B,missense_variant,p.Asn139Tyr,ENST00000404406,;RSPH10B,missense_variant,p.Asn139Tyr,ENST00000405415,;RSPH10B,upstream_gene_variant,,ENST00000539903,;RSPH10B,non_coding_transcript_exon_variant,,ENST00000541997,;RSPH10B,non_coding_transcript_exon_variant,,ENST00000539630,;RSPH10B,non_coding_transcript_exon_variant,,ENST00000535104,;	802	196	154	SUCCESS
TYW1B	441250	.	GRCh37	7	72023766	72023766	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	20	0	ENST00000438125.1:n.1507A>T		p.*503*	ENST00000438125				0	.	.	.	.	.	A	.	processed_transcript	.	.	.	MUTECT|MUSE	.	TGTGCTGGGAT	NONE	.	.	.	.	.	.	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000438125	Transcript	.	.	ENSG00000254184	33908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TYW1B	HGNC	.	.	.	SNV	TYW1B,non_coding_transcript_exon_variant,,ENST00000438125,;	1507	20	21	SUCCESS
CACNA2D1	781	.	GRCh37	7	81589122	81589122	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	54	0	ENST00000356253.5:c.3026T>A	p.Met1009Lys	p.M1009K	ENST00000356253		1009	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS5598.1	2990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCATAAGC	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	37/39	.	.	.	.	.	.	.	.	.	37/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.77)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Met1009Lys,ENST00000356253,;CACNA2D1,missense_variant,p.Met997Lys,ENST00000356860,;CACNA2D1,missense_variant,p.Met209Lys,ENST00000535308,;CACNA2D1,downstream_gene_variant,,ENST00000469297,;	3329	54	51	SUCCESS
SAMD9	54809	.	GRCh37	7	92734072	92734072	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	84	0	ENST00000379958.2:c.1339A>G	p.Asn447Asp	p.N447D	ENST00000379958	NM_017654.3	447	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS34680.1	1339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTAGACT	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.57)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Asn447Asp,ENST00000446617,;SAMD9,missense_variant,p.Asn447Asp,ENST00000379958,;	1609	84	69	SUCCESS
STAG3	10734	.	GRCh37	7	99798553	99798553	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	135	0	ENST00000317296.5:c.2022G>C	p.Leu674=	p.L674=	ENST00000317296	NM_012447.2	674	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS34703.1	2022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGACTGA	NONE	.	.	hmmpanther:PTHR11199:SF4,hmmpanther:PTHR11199,Superfamily_domains:SSF48371	.	.	ENSP00000400359	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000426455	Transcript	.	.	ENSG00000066923	11356	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAG3_HUMAN	STAG3	HGNC	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN	.	UPI000020F6E0	SNV	STAG3,synonymous_variant,p.%3D,ENST00000426455,;STAG3,synonymous_variant,p.%3D,ENST00000394018,;STAG3,synonymous_variant,p.%3D,ENST00000317296,;GATS,3_prime_UTR_variant,,ENST00000436886,;STAG3,upstream_gene_variant,,ENST00000412190,;GATS,non_coding_transcript_exon_variant,,ENST00000543273,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;GATS,downstream_gene_variant,,ENST00000414997,;GATS,downstream_gene_variant,,ENST00000454084,;GATS,downstream_gene_variant,,ENST00000437485,;GATS,downstream_gene_variant,,ENST00000440058,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,non_coding_transcript_exon_variant,,ENST00000476057,;STAG3,non_coding_transcript_exon_variant,,ENST00000479359,;STAG3,downstream_gene_variant,,ENST00000477469,;STAG3,upstream_gene_variant,,ENST00000451963,;	2429	135	126	SUCCESS
NACAP1	0	.	GRCh37	8	102381413	102381413	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	46	0	ENST00000419462.1:n.825A>T		p.*275*	ENST00000419462				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGAGTCAC	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000419462	Transcript	.	.	ENSG00000228224	24688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NACAP1	HGNC	.	.	.	SNV	NACAP1,non_coding_transcript_exon_variant,,ENST00000419462,;NACAP1,non_coding_transcript_exon_variant,,ENST00000519039,;DUXAP2,upstream_gene_variant,,ENST00000519198,;	825	46	38	SUCCESS
FER1L6	654463	.	GRCh37	8	125107154	125107154	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	136	0	ENST00000399018.1:c.4570T>C	p.Tyr1524His	p.Y1524H	ENST00000399018		1524	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS43767.1	4570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTTATGAA	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	35/41	.	.	.	.	.	.	.	.	.	35/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.3)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Tyr1524His,ENST00000522917,;FER1L6,missense_variant,p.Tyr1524His,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	4776	136	96	SUCCESS
FAM135B	51059	.	GRCh37	8	139323154	139323154	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	53	0	ENST00000395297.1:c.87G>C	p.Gln29His	p.Q29H	ENST00000395297	NM_015912.3	29	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS6375.2	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATCTGGTA	BUFFER|p.R31Q|c.92G>A|3,BUFFER|p.R31Q|c.92G>A|3	.	.	hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482	.	.	ENSP00000378710	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000395297	Transcript	.	.	ENSG00000147724	28029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.07)	.	F135B_HUMAN	FAM135B	HGNC	J3QSR3_HUMAN	.	UPI000057A0DB	SNV	FAM135B,missense_variant,p.Gln29His,ENST00000160713,;FAM135B,missense_variant,p.Gln29His,ENST00000520380,;FAM135B,missense_variant,p.Gln29His,ENST00000395297,;FAM135B,non_coding_transcript_exon_variant,,ENST00000517849,;FAM135B,missense_variant,p.Gln29His,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	258	53	54	SUCCESS
C8orf31	0	.	GRCh37	8	144126142	144126142	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	68	0	ENST00000395172.1:c.263A>T	p.Gln88Leu	p.Q88L	ENST00000395172	NM_173687.2	88	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6395.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGAAG	NONE	.	.	.	.	.	ENSP00000378601	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000395172	Transcript	.	.	ENSG00000177335	26731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.65)	.	CH031_HUMAN	C8orf31	HGNC	.	.	UPI0000073580	SNV	C8orf31,missense_variant,p.Gln88Leu,ENST00000395172,;C8orf31,non_coding_transcript_exon_variant,,ENST00000517653,;C8orf31,intron_variant,,ENST00000519775,;C8orf31,downstream_gene_variant,,ENST00000523766,;C8orf31,downstream_gene_variant,,ENST00000523099,;C8orf31,3_prime_UTR_variant,,ENST00000524181,;C8orf31,non_coding_transcript_exon_variant,,ENST00000520786,;	615	68	51	SUCCESS
TSTA3	0	.	GRCh37	8	144696547	144696547	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	87	0	ENST00000425753.2:c.541A>T	p.Asn181Tyr	p.N181Y	ENST00000425753	NM_003313.3	181	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS6408.1	541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTGAAGT	NONE	.	.	HAMAP:MF_00956,hmmpanther:PTHR10366:SF259,hmmpanther:PTHR10366,Gene3D:3.40.50.720,Pfam_domain:PF01370,Superfamily_domains:SSF51735	.	.	ENSP00000398803	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000425753	Transcript	.	.	ENSG00000104522	12390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	deleterious(0)	.	FCL_HUMAN	TSTA3	HGNC	E9PP14_HUMAN,E9PLH9_HUMAN,E9PKL9_HUMAN	.	UPI000012A5A5	SNV	TSTA3,missense_variant,p.Asn181Tyr,ENST00000529048,;TSTA3,missense_variant,p.Asn181Tyr,ENST00000425753,;TSTA3,missense_variant,p.Asn181Tyr,ENST00000533817,;TSTA3,missense_variant,p.Asn181Tyr,ENST00000529064,;TSTA3,downstream_gene_variant,,ENST00000526290,;PYCRL,upstream_gene_variant,,ENST00000377579,;TSTA3,upstream_gene_variant,,ENST00000524719,;TSTA3,downstream_gene_variant,,ENST00000527006,;PYCRL,upstream_gene_variant,,ENST00000220966,;PYCRL,upstream_gene_variant,,ENST00000433751,;PYCRL,upstream_gene_variant,,ENST00000495276,;TSTA3,3_prime_UTR_variant,,ENST00000530474,;TSTA3,non_coding_transcript_exon_variant,,ENST00000528920,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531473,;TSTA3,non_coding_transcript_exon_variant,,ENST00000532308,;TSTA3,downstream_gene_variant,,ENST00000525274,;TSTA3,upstream_gene_variant,,ENST00000527677,;PYCRL,upstream_gene_variant,,ENST00000447926,;TSTA3,downstream_gene_variant,,ENST00000531006,;TSTA3,downstream_gene_variant,,ENST00000527549,;PYCRL,upstream_gene_variant,,ENST00000482616,;TSTA3,downstream_gene_variant,,ENST00000529899,;	645	87	61	SUCCESS
ADAM28	10863	.	GRCh37	8	24178961	24178961	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	42	0	ENST00000265769.4:c.720+159G>T		p.*240*	ENST00000265769	NM_014265.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34865.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAGGTGAA	NONE	.	.	.	.	.	ENSP00000265769	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	MODIFIER	8/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,splice_region_variant,,ENST00000397649,;ADAM28,intron_variant,,ENST00000437154,;ADAM28,intron_variant,,ENST00000540823,;ADAM28,intron_variant,,ENST00000265769,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-624C23.1,intron_variant,,ENST00000523700,;ADAM28,upstream_gene_variant,,ENST00000521110,;ADAM28,upstream_gene_variant,,ENST00000518516,;ADAM28,splice_region_variant,,ENST00000520448,;	.	42	17	SUCCESS
ADRB3	155	.	GRCh37	8	37821737	37821737	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	40	119	0	ENST00000345060.3:c.1226A>T	p.Ter409LeuextTer2	p.*409Lext*2	ENST00000345060	NM_000025.2	409	tAg/tTg	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS6099.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTAAGAA	NONE	.	.	.	.	.	ENSP00000343782	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000345060	Transcript	.	.	ENSG00000188778	288	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADRB3_HUMAN	ADRB3	HGNC	A8KAG8_HUMAN	.	UPI0000047C3B	SNV	ADRB3,stop_lost,p.Ter409LeuextTer2,ENST00000345060,;ADRB3,non_coding_transcript_exon_variant,,ENST00000520341,;	1722	119	52	SUCCESS
CHRNB3	1142	.	GRCh37	8	42587110	42587110	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	99	0	ENST00000289957.2:c.660T>C	p.Tyr220=	p.Y220=	ENST00000289957	NM_000749.3	220	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS6134.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTATCCCTT	NONE	.	.	Superfamily_domains:0038932,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945	.	.	ENSP00000289957	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000289957	Transcript	.	.	ENSG00000147432	1963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACHB3_HUMAN	CHRNB3	HGNC	.	.	UPI0000125272	SNV	CHRNB3,synonymous_variant,p.%3D,ENST00000289957,;	788	99	80	SUCCESS
XKR4	114786	.	GRCh37	8	56436483	56436483	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	94	0	ENST00000327381.6:c.1650C>A	p.Ser550=	p.S550=	ENST00000327381	NM_052898.1	550	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34893.1	1650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCAACAA	NONE	.	.	hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	3/3	.	.	.	.	.	.	.	.	COSM3925414	3/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,synonymous_variant,p.%3D,ENST00000327381,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	1750	94	73	SUCCESS
ADHFE1	137872	.	GRCh37	8	67356642	67356642	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	45	162	0	ENST00000396623.3:c.185A>T	p.Lys62Met	p.K62M	ENST00000396623	NM_144650.2	62	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS6190.2	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAAGGAAG	NONE	.	.	hmmpanther:PTHR11496:SF62,hmmpanther:PTHR11496,Gene3D:3.40.50.1970,Pfam_domain:PF00465,Superfamily_domains:SSF56796	.	.	ENSP00000379865	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000396623	Transcript	.	.	ENSG00000147576	16354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.778)	.	deleterious(0.01)	.	HOT_HUMAN	ADHFE1	HGNC	E5RFL4_HUMAN	.	UPI000004966C	SNV	ADHFE1,missense_variant,p.Lys14Met,ENST00000415254,;ADHFE1,missense_variant,p.Lys62Met,ENST00000396623,;ADHFE1,missense_variant,p.Lys62Met,ENST00000379385,;ADHFE1,5_prime_UTR_variant,,ENST00000523113,;ADHFE1,non_coding_transcript_exon_variant,,ENST00000518781,;ADHFE1,intron_variant,,ENST00000496501,;ADHFE1,missense_variant,p.Lys62Met,ENST00000422166,;ADHFE1,missense_variant,p.Arg34Trp,ENST00000449512,;ADHFE1,missense_variant,p.Lys62Met,ENST00000424777,;ADHFE1,missense_variant,p.Arg34Trp,ENST00000443372,;ADHFE1,missense_variant,p.Lys62Met,ENST00000396621,;ADHFE1,3_prime_UTR_variant,,ENST00000419955,;ADHFE1,3_prime_UTR_variant,,ENST00000426810,;ADHFE1,3_prime_UTR_variant,,ENST00000276576,;ADHFE1,3_prime_UTR_variant,,ENST00000431959,;ADHFE1,non_coding_transcript_exon_variant,,ENST00000466920,;ADHFE1,non_coding_transcript_exon_variant,,ENST00000463261,;	216	162	194	SUCCESS
EYA1	2138	.	GRCh37	8	72129021	72129021	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	58	154	0	ENST00000340726.3:c.1266T>A	p.Thr422=	p.T422=	ENST00000340726	NM_000503.4	422	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34906.1	1266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCAGTTGC	NONE	.	.	TIGRFAM_domain:TIGR01658,hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,synonymous_variant,p.%3D,ENST00000388741,;EYA1,synonymous_variant,p.%3D,ENST00000419131,;EYA1,synonymous_variant,p.%3D,ENST00000388742,;EYA1,synonymous_variant,p.%3D,ENST00000340726,;EYA1,synonymous_variant,p.%3D,ENST00000388740,;EYA1,synonymous_variant,p.%3D,ENST00000388743,;EYA1,synonymous_variant,p.%3D,ENST00000303824,;EYA1,3_prime_UTR_variant,,ENST00000465115,;EYA1,3_prime_UTR_variant,,ENST00000493349,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	1906	154	195	SUCCESS
CCDC180	100499483	.	GRCh37	9	100124601	100124601	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	53	94	0	ENST00000375202.2:c.3912A>T	p.Ser1304=	p.S1304=	ENST00000375202		1304	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS35077.2	3912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCACCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	42/51	.	.	.	.	.	.	.	.	.	42/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,synonymous_variant,p.%3D,ENST00000375202,;CCDC180,synonymous_variant,p.%3D,ENST00000529487,;CCDC180,intron_variant,,ENST00000357054,;CCDC180,intron_variant,,ENST00000395220,;MIR1302-8,downstream_gene_variant,,ENST00000408342,;CCDC180,non_coding_transcript_exon_variant,,ENST00000527182,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,intron_variant,,ENST00000532526,;RP11-23J9.4,intron_variant,,ENST00000375206,;RP11-23J9.4,intron_variant,,ENST00000529787,;CCDC180,downstream_gene_variant,,ENST00000471314,;CCDC180,upstream_gene_variant,,ENST00000483504,;	5264	94	88	SUCCESS
DAB2IP	153090	.	GRCh37	9	124530758	124530758	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	50	174	0	ENST00000408936.3:c.1745A>T	p.Glu582Val	p.E582V	ENST00000408936		582	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6833.2	1661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGAGCATG	NONE	.	.	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000259371	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000259371	Transcript	.	.	ENSG00000136848	17294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	DAB2P_HUMAN	DAB2IP	HGNC	H0Y3A3_HUMAN,F8WA47_HUMAN,F6R503_HUMAN,B3KW96_HUMAN	.	UPI0000D77E70	SNV	DAB2IP,missense_variant,p.Glu582Val,ENST00000408936,;DAB2IP,missense_variant,p.Glu554Val,ENST00000259371,;DAB2IP,missense_variant,p.Glu491Val,ENST00000373782,;DAB2IP,missense_variant,p.Glu458Val,ENST00000309989,;DAB2IP,non_coding_transcript_exon_variant,,ENST00000459906,;	1730	174	125	SUCCESS
NDUFA8	4702	.	GRCh37	9	124906563	124906563	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	120	0	ENST00000373768.3:c.476A>T	p.Gln159Leu	p.Q159L	ENST00000373768	NM_014222.2	159	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6835.1	476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTGCAGA	NONE	.	.	PIRSF_domain:PIRSF017016,hmmpanther:PTHR13344,hmmpanther:PTHR13344:SF0	.	.	ENSP00000362873	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000373768	Transcript	.	.	ENSG00000119421	7692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.11)	.	NDUA8_HUMAN	NDUFA8	HGNC	.	.	UPI000013CA3A	SNV	NDUFA8,missense_variant,p.Gln159Leu,ENST00000373768,;NDUFA8,intron_variant,,ENST00000537618,;	618	120	98	SUCCESS
OR1J1	347168	.	GRCh37	9	125240003	125240003	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	40	141	0	ENST00000259357.2:c.203T>A	p.Leu68His	p.L68H	ENST00000259357	NM_001004451.1	68	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS35120.1	203	RADIA|MUTECT|MUSE	.	CAGTGAGGGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF213,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000259357	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259357	Transcript	.	.	ENSG00000136834	8208	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.808)	.	deleterious_low_confidence(0)	.	OR1J1_HUMAN	OR1J1	HGNC	.	.	UPI0000061E79	SNV	OR1J1,missense_variant,p.Leu68His,ENST00000259357,;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	233	141	115	SUCCESS
OR1J4	26219	.	GRCh37	9	125281724	125281724	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	82	1	ENST00000340750.1:c.305A>G	p.Tyr102Cys	p.Y102C	ENST00000340750	NM_001004452.1	102	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS35122.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTATTTTT	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF207,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000343521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340750	Transcript	.	.	ENSG00000239590	8211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious_low_confidence(0.02)	.	OR1J4_HUMAN	OR1J4	HGNC	A3KME5_HUMAN	.	UPI0000041D07	SNV	OR1J4,missense_variant,p.Tyr102Cys,ENST00000340750,;	305	83	89	SUCCESS
MPDZ	8777	.	GRCh37	9	13138124	13138124	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	117	1	ENST00000319217.7:c.4032A>G	p.Leu1344=	p.L1344=	ENST00000319217	NM_001261406.1	1344	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47951.1	4032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTTAGGGT	NONE	.	.	hmmpanther:PTHR19964:SF10,hmmpanther:PTHR19964,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000439807	.	29/46	.	.	.	.	.	.	.	.	.	29/46	PASS	ENST00000541718	Transcript	.	.	ENSG00000107186	7208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPDZ_HUMAN	MPDZ	HGNC	.	.	UPI00015367D3	SNV	MPDZ,synonymous_variant,p.%3D,ENST00000433359,;MPDZ,synonymous_variant,p.%3D,ENST00000381022,;MPDZ,synonymous_variant,p.%3D,ENST00000447879,;MPDZ,synonymous_variant,p.%3D,ENST00000545857,;MPDZ,synonymous_variant,p.%3D,ENST00000319217,;MPDZ,synonymous_variant,p.%3D,ENST00000546205,;MPDZ,synonymous_variant,p.%3D,ENST00000381015,;MPDZ,synonymous_variant,p.%3D,ENST00000536827,;MPDZ,synonymous_variant,p.%3D,ENST00000538841,;MPDZ,synonymous_variant,p.%3D,ENST00000541718,;MPDZ,upstream_gene_variant,,ENST00000438511,;MPDZ,upstream_gene_variant,,ENST00000541093,;MPDZ,non_coding_transcript_exon_variant,,ENST00000540202,;MPDZ,synonymous_variant,p.%3D,ENST00000535169,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;	4254	118	86	SUCCESS
C9orf62	0	.	GRCh37	9	138235232	138235233	+	5_prime_UTR_variant	5'UTR	DEL	TG	TG	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	145	62	199	0	ENST00000320778.2:c.-13_-12delinsA		p.*5*	ENST00000320778	NM_173520.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59154.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCATGATGAACAG	NONE	.	.	.	.	.	ENSP00000326574	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000320778	Transcript	.	.	ENSG00000178243	28581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI062_HUMAN	C9orf62	HGNC	.	.	UPI000006CE6D	substitution	C9orf62,5_prime_UTR_variant,,ENST00000320778,;	138-139	199	207	SUCCESS
EGFL7	51162	.	GRCh37	9	139566450	139566450	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs370929489	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	70	0	ENST00000308874.7:c.709G>C	p.Gly237Arg	p.G237R	ENST00000308874		237	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS7002.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGGCAGC	NONE	.	.	hmmpanther:PTHR14949:SF21,hmmpanther:PTHR14949	.	.	ENSP00000360764	.	9/10	.	.	.	.	.	.	.	.	rs370929489	9/10	PASS	ENST00000371699	Transcript	.	.	ENSG00000172889	20594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.363)	.	tolerated(0.1)	.	EGFL7_HUMAN	EGFL7	HGNC	R4GMT3_HUMAN	.	UPI0000036A42	SNV	EGFL7,missense_variant,p.Gly237Arg,ENST00000308874,;EGFL7,missense_variant,p.Gly237Arg,ENST00000371698,;EGFL7,missense_variant,p.Gly237Arg,ENST00000371699,;EGFL7,missense_variant,p.Gly237Arg,ENST00000406555,;AGPAT2,downstream_gene_variant,,ENST00000371696,;EGFL7,downstream_gene_variant,,ENST00000492862,;AGPAT2,downstream_gene_variant,,ENST00000538402,;AGPAT2,downstream_gene_variant,,ENST00000371694,;MIR126,downstream_gene_variant,,ENST00000362291,;EGFL7,downstream_gene_variant,,ENST00000490469,;EGFL7,downstream_gene_variant,,ENST00000492002,;AGPAT2,downstream_gene_variant,,ENST00000472820,;	1620	70	51	SUCCESS
FRMPD1	22844	.	GRCh37	9	37740889	37740889	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	rs758611312	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	85	0	ENST00000377765.3:c.2356+8G>A		p.X786_splice	ENST00000377765	NM_014907.2	786		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6612.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGTCCCT	NONE	.	.	.	.	.	ENSP00000444411	.	.	.	.	.	.	.	.	.	.	rs758611312	.	PASS	ENST00000539465	Transcript	.	.	ENSG00000070601	29159	.	.	LOW	15/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD1_HUMAN	FRMPD1	HGNC	F5H0G3_HUMAN	.	UPI000013D2CC	SNV	FRMPD1,synonymous_variant,p.%3D,ENST00000536622,;FRMPD1,synonymous_variant,p.%3D,ENST00000541302,;FRMPD1,splice_region_variant,,ENST00000539465,;FRMPD1,splice_region_variant,,ENST00000377765,;RP11-613M10.9,intron_variant,,ENST00000540557,;	.	85	70	SUCCESS
DOCK8	81704	.	GRCh37	9	439312	439312	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	106	0	ENST00000432829.2:c.4943G>T	p.Gly1648Val	p.G1648V	ENST00000432829	NM_203447.3	1648	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6440.2	5147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGGGTGT	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74	.	.	ENSP00000408464	.	40/48	.	.	.	.	.	.	.	.	.	40/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Gly1648Val,ENST00000432829,;DOCK8,missense_variant,p.Gly1716Val,ENST00000453981,;DOCK8,missense_variant,p.Gly1616Val,ENST00000469391,;DOCK8,missense_variant,p.Gly1183Val,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	5259	106	83	SUCCESS
CEP78	84131	.	GRCh37	9	80851282	80851282	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	51	0	ENST00000424347.2:c.16A>T	p.Lys6Ter	p.K6*	ENST00000424347		6	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS47984.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGAAGCTG	NONE	.	.	hmmpanther:PTHR24110	.	.	ENSP00000365782	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000376597	Transcript	.	.	ENSG00000148019	25740	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEP78_HUMAN	CEP78	HGNC	.	.	UPI000153BFA4	SNV	CEP78,stop_gained,p.Lys6Ter,ENST00000376598,;CEP78,stop_gained,p.Lys6Ter,ENST00000376597,;CEP78,stop_gained,p.Lys6Ter,ENST00000277082,;CEP78,stop_gained,p.Lys6Ter,ENST00000415759,;CEP78,stop_gained,p.Lys6Ter,ENST00000424347,;CEP78,non_coding_transcript_exon_variant,,ENST00000476652,;CEP78,non_coding_transcript_exon_variant,,ENST00000536374,;	160	51	31	SUCCESS
GPM6B	2824	.	GRCh37	X	13803759	13803759	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	182	236	0	ENST00000356942.5:c.230A>T	p.His77Leu	p.H77L	ENST00000356942	NM_005278.3	77	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS35206.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATGGTCA	NONE	.	.	hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF10,Pfam_domain:PF01275	.	.	ENSP00000316861	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000316715	Transcript	.	.	ENSG00000046653	4461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.18)	.	GPM6B_HUMAN	GPM6B	HGNC	C9JZE8_HUMAN,C9J8H8_HUMAN,B7Z613_HUMAN	.	UPI00000721CA	SNV	GPM6B,missense_variant,p.His58Leu,ENST00000454189,;GPM6B,missense_variant,p.His117Leu,ENST00000355135,;GPM6B,missense_variant,p.His117Leu,ENST00000316715,;GPM6B,missense_variant,p.His91Leu,ENST00000493677,;GPM6B,missense_variant,p.His77Leu,ENST00000356942,;GPM6B,missense_variant,p.His77Leu,ENST00000475307,;GPM6B,5_prime_UTR_variant,,ENST00000468080,;GPM6B,5_prime_UTR_variant,,ENST00000493085,;GPM6B,5_prime_UTR_variant,,ENST00000398361,;GPM6B,upstream_gene_variant,,ENST00000472735,;GPM6B,upstream_gene_variant,,ENST00000495211,;	788	236	206	SUCCESS
L1CAM	3897	.	GRCh37	X	153128941	153128941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	100	134	0	ENST00000370060.1:c.3521G>T	p.Gly1174Val	p.G1174V	ENST00000370060	NM_001278116.1	1174	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14733.1	3521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGCCGAAG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Pfam_domain:PF13882	.	.	ENSP00000359077	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Gly74Val,ENST00000370058,;L1CAM,missense_variant,p.Gly1176Val,ENST00000538883,;L1CAM,missense_variant,p.Gly1174Val,ENST00000370060,;L1CAM,missense_variant,p.Gly1169Val,ENST00000370055,;L1CAM,missense_variant,p.Gly1169Val,ENST00000361981,;L1CAM,missense_variant,p.Gly1176Val,ENST00000543994,;L1CAM,missense_variant,p.Gly1174Val,ENST00000361699,;L1CAM,missense_variant,p.Gly1174Val,ENST00000370057,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000484652,;	3711	134	116	SUCCESS
GRPR	2925	.	GRCh37	X	16170727	16170727	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs769524547	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	50	78	0	ENST00000380289.2:c.1114A>T	p.Ser372Cys	p.S372C	ENST00000380289	NM_005314.2	372	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS14174.1	1114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTAGCCTC	NONE	byFrequency	.	Prints_domain:PR00640,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF116	.	.	ENSP00000369643	.	3/3	.	.	.	.	.	.	.	.	rs769524547	3/3	PASS	ENST00000380289	Transcript	.	.	ENSG00000126010	4609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.03)	.	GRPR_HUMAN	GRPR	HGNC	.	.	UPI00000503FE	SNV	GRPR,missense_variant,p.Ser372Cys,ENST00000380289,;RP11-431J24.2,downstream_gene_variant,,ENST00000454712,;RP11-431J24.2,downstream_gene_variant,,ENST00000435789,;RP11-431J24.2,downstream_gene_variant,,ENST00000422438,;	1512	78	64	SUCCESS
CDKL5	6792	.	GRCh37	X	18627562	18627608	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TATAAATTTCTTTCCTGCCTCAGGGTGGAGTGTATCATGACCCACAC	TATAAATTTCTTTCCTGCCTCAGGGTGGAGTGTATCATGACCCACAC	-	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	TATAAATTTCTTTCCTGCCTCAGGGTGGAGTGTATCATGACCCACAC	TATAAATTTCTTTCCTGCCTCAGGGTGGAGTGTATCATGACCCACAC	.	.	.	.	.	.	.	.	.	.	.	.	.	4	29	108	0	ENST00000379989.3:c.2047-22_2071del		p.X683_splice	ENST00000379989	NM_001037343.1	683		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14186.1	?-2070	VARSCANI*|PINDEL	.	AACTTTTATAAATTTCTTTCCTGCCTCAGGGTGGAGTGTATCATGACCCACACTCTGA	NONE	.	.	.	.	.	ENSP00000369325	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	1	.	HIGH	14/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	deletion	CDKL5,splice_acceptor_variant,,ENST00000379989,;CDKL5,splice_acceptor_variant,,ENST00000379996,;CDKL5,splice_acceptor_variant,,ENST00000463994,;	?-2355	108	33	SUCCESS
MXRA5	25878	.	GRCh37	X	3241470	3241470	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	45	60	0	ENST00000217939.6:c.2256A>T	p.Lys752Asn	p.K752N	ENST00000217939	NM_015419.3	752	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS14124.1	2256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTTTTTC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	deleterious(0.01)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Lys752Asn,ENST00000217939,;	2411	60	56	SUCCESS
CYLC1	1538	.	GRCh37	X	83128059	83128059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	212	308	1	ENST00000329312.4:c.343T>C	p.Tyr115His	p.Y115H	ENST00000329312	NM_021118.2	115	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS35341.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATATAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742,Pfam_domain:PF15241	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	tolerated(0.12)	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Tyr115His,ENST00000329312,;	380	309	246	SUCCESS
FRG2B	441581	.	GRCh37	10	135438731	135438731	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	41	0	ENST00000425520.1:c.709G>A	p.Ala237Thr	p.A237T	ENST00000425520	NM_001080998.1	237	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44502.1	709	SOMATICSNIPER|VARSCANS	.	CTCAGCAGGGA	NONE	.	.	Prints_domain:PR02074,Pfam_domain:PF15315,hmmpanther:PTHR31883:SF2,hmmpanther:PTHR31883	.	.	ENSP00000401310	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000425520	Transcript	.	.	ENSG00000225899	33518	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	deleterious(0)	.	FRG2B_HUMAN	FRG2B	HGNC	.	.	UPI00000727C6	SNV	FRG2B,missense_variant,p.Ala237Thr,ENST00000425520,;FRG2B,missense_variant,p.Ala238Thr,ENST00000443774,;	762	41	50	SUCCESS
ARID5B	84159	.	GRCh37	10	63852733	63852733	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	31	43	0	ENST00000279873.7:c.3511C>G	p.Gln1171Glu	p.Q1171E	ENST00000279873	NM_032199.2	1171	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS31208.1	3511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCAAGCT	NONE	.	.	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22	.	.	ENSP00000279873	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious_low_confidence(0)	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,missense_variant,p.Gln1171Glu,ENST00000279873,;ARID5B,missense_variant,p.Gln928Glu,ENST00000309334,;	3921	43	59	SUCCESS
DNA2	1763	.	GRCh37	10	70192255	70192255	+	synonymous_variant	Silent	SNP	G	G	A	rs1051825010	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	126	308	0	ENST00000358410.3:c.1659C>T	p.Val553=	p.V553=	ENST00000358410	NM_001080449.2	553	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	.	1917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGACCGA	NONE	.	.	hmmpanther:PTHR10887:SF339,hmmpanther:PTHR10887	.	.	ENSP00000382133	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000399180	Transcript	1	.	ENSG00000138346	2939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,synonymous_variant,p.%3D,ENST00000358410,;DNA2,synonymous_variant,p.%3D,ENST00000399179,;DNA2,synonymous_variant,p.%3D,ENST00000399180,;DNA2,synonymous_variant,p.%3D,ENST00000551118,;DNA2,upstream_gene_variant,,ENST00000440722,;DNA2,downstream_gene_variant,,ENST00000478029,;	1917	308	325	SUCCESS
DUSP13	51207	.	GRCh37	10	76867822	76867822	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201419297	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	55	110	0	ENST00000372702.3:c.295C>A	p.Pro99Thr	p.P99T	ENST00000372702		99	Cct/Act	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31224.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGGAGGT	NONE	byCluster	.	.	.	.	ENSP00000361785	.	.	.	.	.	.	.	.	.	.	rs201419297	.	PASS	ENST00000372700	Transcript	.	.	ENSG00000079393	19681	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DS13B_HUMAN	DUSP13	HGNC	.	.	UPI0000481AED	SNV	DUSP13,missense_variant,p.Pro99Thr,ENST00000372702,;DUSP13,5_prime_UTR_variant,,ENST00000491677,;SAMD8,intron_variant,,ENST00000447533,;DUSP13,intron_variant,,ENST00000607487,;DUSP13,intron_variant,,ENST00000473072,;DUSP13,intron_variant,,ENST00000372700,;DUSP13,intron_variant,,ENST00000607131,;SAMD8,upstream_gene_variant,,ENST00000372690,;SAMD8,upstream_gene_variant,,ENST00000542569,;SAMD8,upstream_gene_variant,,ENST00000372687,;DUSP13,non_coding_transcript_exon_variant,,ENST00000607009,;DUSP13,missense_variant,p.Pro99Thr,ENST00000479884,;DUSP13,3_prime_UTR_variant,,ENST00000494588,;DUSP13,intron_variant,,ENST00000308475,;DUSP13,intron_variant,,ENST00000394707,;	.	110	132	SUCCESS
CD81	975	.	GRCh37	11	2416745	2416745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs538164293	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	54	101	0	ENST00000263645.5:c.454G>A	p.Glu152Lys	p.E152K	ENST00000263645	NM_004356.3	152	Gag/Aag	0	.	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS7734.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACGAGACG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19282:SF209,hmmpanther:PTHR19282,Pfam_domain:PF00335,Gene3D:1g8qA00,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	A:0	.	ENSP00000263645	A:0.001	5/8	.	.	.	.	.	.	.	.	rs538164293	5/8	PASS	ENST00000263645	Transcript	.	A:0.0002	ENSG00000110651	1701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	A:0	tolerated(0.83)	.	CD81_HUMAN	CD81	HGNC	E9PPF5_HUMAN,E9PM31_HUMAN,E9PJK1_HUMAN	.	UPI0000047033	SNV	CD81,missense_variant,p.Glu145Lys,ENST00000492252,;CD81,missense_variant,p.Glu147Lys,ENST00000533417,;CD81,missense_variant,p.Glu141Lys,ENST00000527343,;CD81,missense_variant,p.Glu152Lys,ENST00000263645,;CD81,missense_variant,p.Glu81Lys,ENST00000526072,;CD81,missense_variant,p.Glu190Lys,ENST00000381036,;CD81,missense_variant,p.Glu137Lys,ENST00000464784,;CD81,missense_variant,p.Glu81Lys,ENST00000475945,;CD81,missense_variant,p.Glu81Lys,ENST00000492627,;CD81,missense_variant,p.Glu158Lys,ENST00000481687,;TSSC4,upstream_gene_variant,,ENST00000380996,;CD81,downstream_gene_variant,,ENST00000493525,;CD81,downstream_gene_variant,,ENST00000530648,;CD81,non_coding_transcript_exon_variant,,ENST00000524805,;CD81,non_coding_transcript_exon_variant,,ENST00000468153,;CD81,non_coding_transcript_exon_variant,,ENST00000531840,;CD81,non_coding_transcript_exon_variant,,ENST00000530239,;CD81,upstream_gene_variant,,ENST00000481386,;	710	101	109	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137427	40137427	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1590406671	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	42	102	0	ENST00000278198.2:c.416T>C	p.Ile139Thr	p.I139T	ENST00000278198		139	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31464.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGATGGTA	BUFFER|p.P140P|c.420G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13306,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Ile139Thr,ENST00000528697,;LRRC4C,missense_variant,p.Ile139Thr,ENST00000278198,;LRRC4C,missense_variant,p.Ile139Thr,ENST00000530763,;LRRC4C,missense_variant,p.Ile139Thr,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2380	102	117	SUCCESS
TENM4	26011	.	GRCh37	11	78387281	78387281	+	synonymous_variant	Silent	SNP	G	G	A	rs893135364	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	63	0	ENST00000278550.7:c.5412C>T	p.Ile1804=	p.I1804=	ENST00000278550	NM_001098816.2	1804	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS44688.1	5412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCGATGGG	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,synonymous_variant,p.%3D,ENST00000278550,;TENM4,synonymous_variant,p.%3D,ENST00000530738,;	5875	63	65	SUCCESS
IPO7	10527	.	GRCh37	11	9452513	9452513	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	88	0	ENST00000379719.3:c.1844T>G	p.Ile615Ser	p.I615S	ENST00000379719	NM_006391.2	615	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS31425.1	1844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAATTGATA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.754)	.	deleterious(0)	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	SNV	IPO7,missense_variant,p.Ile615Ser,ENST00000379719,;SNORA23,downstream_gene_variant,,ENST00000365128,;CTD-2371O3.2,intron_variant,,ENST00000531111,;	1986	88	73	SUCCESS
CUX2	23316	.	GRCh37	12	111744831	111744831	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1383148425	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	55	0	ENST00000261726.6:c.965G>A	p.Ser322Asn	p.S322N	ENST00000261726	NM_015267.3	322	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS41837.1	965	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGCTCAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.61)	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	SNV	CUX2,missense_variant,p.Ser322Asn,ENST00000261726,;AC002979.1,downstream_gene_variant,,ENST00000408459,;	1119	55	62	SUCCESS
RPH3A	22895	.	GRCh37	12	113303258	113303258	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	101	0	ENST00000389385.4:c.270G>A	p.Val90=	p.V90=	ENST00000389385	NM_001143854.1	90	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44979.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTGGCTGG	NONE	.	.	PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903	.	.	ENSP00000374036	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000389385	Transcript	.	.	ENSG00000089169	17056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RP3A_HUMAN	RPH3A	HGNC	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN	.	UPI000013456D	SNV	RPH3A,synonymous_variant,p.%3D,ENST00000550901,;RPH3A,synonymous_variant,p.%3D,ENST00000547686,;RPH3A,synonymous_variant,p.%3D,ENST00000552667,;RPH3A,synonymous_variant,p.%3D,ENST00000415485,;RPH3A,synonymous_variant,p.%3D,ENST00000551052,;RPH3A,synonymous_variant,p.%3D,ENST00000548197,;RPH3A,synonymous_variant,p.%3D,ENST00000543106,;RPH3A,synonymous_variant,p.%3D,ENST00000551593,;RPH3A,synonymous_variant,p.%3D,ENST00000447659,;RPH3A,synonymous_variant,p.%3D,ENST00000547840,;RPH3A,synonymous_variant,p.%3D,ENST00000548866,;RPH3A,synonymous_variant,p.%3D,ENST00000549769,;RPH3A,synonymous_variant,p.%3D,ENST00000420983,;RPH3A,synonymous_variant,p.%3D,ENST00000551748,;RPH3A,synonymous_variant,p.%3D,ENST00000551198,;RPH3A,synonymous_variant,p.%3D,ENST00000547728,;RPH3A,synonymous_variant,p.%3D,ENST00000389385,;RPH3A,synonymous_variant,p.%3D,ENST00000553114,;RPH3A,downstream_gene_variant,,ENST00000546703,;RPH3A,non_coding_transcript_exon_variant,,ENST00000547222,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552679,;RPH3A,upstream_gene_variant,,ENST00000549913,;RPH3A,3_prime_UTR_variant,,ENST00000547099,;	767	101	89	SUCCESS
SPSB2	84727	.	GRCh37	12	6981831	6981831	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782809589	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	69	0	ENST00000523102.1:c.235C>T	p.Arg79Trp	p.R79W	ENST00000523102	NM_001146316.1	79	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8567.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGGGCCC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF2,Superfamily_domains:SSF49899	.	.	ENSP00000428338	.	2/3	.	.	.	.	.	.	.	.	rs782809589	2/3	PASS	ENST00000524270	Transcript	.	.	ENSG00000111671	29522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPSB2_HUMAN	SPSB2	HGNC	E5RIC2_HUMAN	.	UPI000003316E	SNV	SPSB2,missense_variant,p.Arg79Trp,ENST00000432205,;SPSB2,missense_variant,p.Arg79Trp,ENST00000519357,;SPSB2,missense_variant,p.Arg79Trp,ENST00000523102,;SPSB2,missense_variant,p.Arg79Trp,ENST00000524270,;TPI1,downstream_gene_variant,,ENST00000396705,;TPI1,downstream_gene_variant,,ENST00000488464,;TPI1,downstream_gene_variant,,ENST00000495834,;LRRC23,upstream_gene_variant,,ENST00000433346,;TPI1,downstream_gene_variant,,ENST00000493987,;TPI1,downstream_gene_variant,,ENST00000229270,;TPI1,downstream_gene_variant,,ENST00000535434,;TPI1,downstream_gene_variant,,ENST00000462761,;LRRC23,upstream_gene_variant,,ENST00000449039,;RPL13P5,upstream_gene_variant,,ENST00000421824,;SPSB2,downstream_gene_variant,,ENST00000437851,;RPL13P5,upstream_gene_variant,,ENST00000412023,;RPL13P5,upstream_gene_variant,,ENST00000274820,;RPL13P5,upstream_gene_variant,,ENST00000451612,;TPI1,downstream_gene_variant,,ENST00000482209,;TPI1,downstream_gene_variant,,ENST00000474253,;	422	69	69	SUCCESS
PTPRB	5787	.	GRCh37	12	70970168	70970168	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1179516030	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	100	1	ENST00000261266.5:c.2182C>T	p.Arg728Trp	p.R728W	ENST00000261266	NM_002837.4	728	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44943.1	2836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCGCTCTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.249)	.	deleterious(0.05)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Arg728Trp,ENST00000538708,;PTPRB,missense_variant,p.Arg945Trp,ENST00000551525,;PTPRB,missense_variant,p.Arg728Trp,ENST00000261266,;PTPRB,missense_variant,p.Arg638Trp,ENST00000451516,;PTPRB,missense_variant,p.Arg825Trp,ENST00000548122,;PTPRB,missense_variant,p.Arg638Trp,ENST00000550857,;PTPRB,missense_variant,p.Arg946Trp,ENST00000334414,;PTPRB,intron_variant,,ENST00000550358,;	2881	101	85	SUCCESS
EEF1DP3	196549	.	GRCh37	13	32526769	32526769	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	9	0	ENST00000490410.1:n.2474A>G		p.*825*	ENST00000490410				0	.	.	.	.	.	G	.	retained_intron	YES	.	.	MUTECT|MUSE	.	CAAATATGGCG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000490410	Transcript	.	.	ENSG00000229715	30486	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EEF1DP3	HGNC	.	.	.	SNV	EEF1DP3,non_coding_transcript_exon_variant,,ENST00000428783,;EEF1DP3,non_coding_transcript_exon_variant,,ENST00000490410,;EEF1DP3,non_coding_transcript_exon_variant,,ENST00000566025,;	2474	9	9	SUCCESS
TECPR2	9895	.	GRCh37	14	102918935	102918935	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs777143146	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	34	104	0	ENST00000359520.7:c.3611A>G	p.His1204Arg	p.H1204R	ENST00000359520	NM_014844.3	1204	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS32162.1	3611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCACTGGA	NONE	byFrequency	.	SMART_domains:SM00706,Pfam_domain:PF06462,hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287	.	.	ENSP00000352510	.	16/20	.	.	.	.	.	.	.	.	rs777143146	16/20	PASS	ENST00000359520	Transcript	1	.	ENSG00000196663	19957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.15)	.	TCPR2_HUMAN	TECPR2	HGNC	.	.	UPI00001FDC38	SNV	TECPR2,missense_variant,p.His1204Arg,ENST00000359520,;TECPR2,missense_variant,p.His1204Arg,ENST00000558678,;	3837	104	51	SUCCESS
OR4N2	390429	.	GRCh37	14	20296122	20296122	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	37	108	0	ENST00000315947.1:c.515A>T	p.Asn172Ile	p.N172I	ENST00000315947	NM_001004723.1	172	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS32022.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAACCAGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000319601	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315947	Transcript	.	.	ENSG00000176294	14742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	OR4N2_HUMAN	OR4N2	HGNC	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN	.	UPI000004A5DF	SNV	OR4N2,missense_variant,p.Asn172Ile,ENST00000315947,;OR4N2,missense_variant,p.Asn172Ile,ENST00000568211,;OR4N2,downstream_gene_variant,,ENST00000557677,;OR4N2,downstream_gene_variant,,ENST00000557414,;	515	108	144	SUCCESS
FOXG1	2290	.	GRCh37	14	29237712	29237712	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	87	0	ENST00000313071.4:c.1227G>A	p.Leu409=	p.L409=	ENST00000313071	NM_005249.4	409	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9636.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGCTCGC	NONE	.	.	hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	COSM1369450	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,synonymous_variant,p.%3D,ENST00000313071,;FOXG1,synonymous_variant,p.%3D,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	1596	87	85	SUCCESS
GEMIN2	8487	.	GRCh37	14	39601242	39601244	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	43	0	ENST00000308317.6:c.717_719del	p.Arg240del	p.R240del	ENST00000308317	NM_003616.2	238	gcAAGa/gca	0	.	.	.	.	.	-	AR/A	protein_coding	YES	CCDS9669.1	714-716	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTGCAAGAAGGT	NONE	.	.	hmmpanther:PTHR12794,Pfam_domain:PF04938,PIRSF_domain:PIRSF038038	.	.	ENSP00000308533	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000308317	Transcript	.	.	ENSG00000092208	10884	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GEMI2_HUMAN	GEMIN2	HGNC	.	.	UPI000012B3B7	deletion	GEMIN2,inframe_deletion,p.Arg240del,ENST00000308317,;GEMIN2,inframe_deletion,p.Arg212del,ENST00000534684,;GEMIN2,inframe_deletion,p.Arg225del,ENST00000250379,;GEMIN2,inframe_deletion,p.Arg240del,ENST00000396249,;GEMIN2,upstream_gene_variant,,ENST00000524781,;GEMIN2,downstream_gene_variant,,ENST00000527381,;GEMIN2,3_prime_UTR_variant,,ENST00000525153,;GEMIN2,3_prime_UTR_variant,,ENST00000412033,;GEMIN2,non_coding_transcript_exon_variant,,ENST00000529365,;GEMIN2,non_coding_transcript_exon_variant,,ENST00000524980,;GEMIN2,downstream_gene_variant,,ENST00000531684,;	797-799	43	44	SUCCESS
PSMC6	5706	.	GRCh37	14	53194276	53194276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	63	129	0	ENST00000606149.1:c.1111G>T	p.Val371Phe	p.V371F	ENST00000606149	NM_002806.3	371	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9710.2	1153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGTCAGA	NONE	.	.	hmmpanther:PTHR23073:SF24,hmmpanther:PTHR23073,TIGRFAM_domain:TIGR01242,Gene3D:1.10.8.60,Superfamily_domains:SSF52540	.	.	ENSP00000401802	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000445930	Transcript	.	.	ENSG00000100519	9553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	.	PSMC6	HGNC	.	.	UPI00001FD556	SNV	PSMC6,missense_variant,p.Val371Phe,ENST00000606149,;PSMC6,missense_variant,p.Val385Phe,ENST00000445930,;STYX,upstream_gene_variant,,ENST00000442123,;PSMC6,downstream_gene_variant,,ENST00000556813,;STYX,upstream_gene_variant,,ENST00000354586,;PSMC6,non_coding_transcript_exon_variant,,ENST00000557557,;STYX,upstream_gene_variant,,ENST00000556861,;PSMC6,3_prime_UTR_variant,,ENST00000555175,;PSMC6,non_coding_transcript_exon_variant,,ENST00000557632,;	1159	129	92	SUCCESS
KCNH5	27133	.	GRCh37	14	63483654	63483654	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	34	86	0	ENST00000322893.7:c.92G>A	p.Gly31Glu	p.G31E	ENST00000322893	NM_139318.4	31	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9756.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCCCAGT	NONE	.	.	Gene3D:3.30.450.20,hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217	.	.	ENSP00000321427	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,missense_variant,p.Gly31Glu,ENST00000322893,;KCNH5,missense_variant,p.Gly31Glu,ENST00000420622,;KCNH5,5_prime_UTR_variant,,ENST00000394968,;KCNH5,5_prime_UTR_variant,,ENST00000394964,;	361	86	43	SUCCESS
SPTBN5	51332	.	GRCh37	15	42145951	42145951	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs548461931	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	27	0	ENST00000320955.6:c.9809G>A	p.Arg3270Gln	p.R3270Q	ENST00000320955	NM_016642.3	3270	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS61599.1	9809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCCGTGCC	NONE	byFrequency|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	T:0	.	ENSP00000317790	T:0	58/68	.	.	.	.	.	.	.	.	rs548461931,COSM1372860	58/68	PASS	ENST00000320955	Transcript	.	T:0.0004	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.036)	T:0.002	.	0,1	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Arg3270Gln,ENST00000320955,;RNA5SP393,upstream_gene_variant,,ENST00000363423,;SPTBN5,upstream_gene_variant,,ENST00000563899,;	10037	27	30	SUCCESS
ABCA3	21	.	GRCh37	16	2336731	2336731	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs565777051	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	27	65	0	ENST00000301732.5:c.3242G>A	p.Arg1081Gln	p.R1081Q	ENST00000301732	NM_001089.2	1081	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS10466.1	3242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCGGGGC	NONE	by1000G	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,Pfam_domain:PF12698	T:0	.	ENSP00000301732	T:0	22/33	.	.	.	.	.	.	.	.	rs565777051	22/33	PASS	ENST00000301732	Transcript	.	T:0.0002	ENSG00000167972	33	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	T:0	tolerated(0.47)	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,missense_variant,p.Arg1023Gln,ENST00000382381,;ABCA3,missense_variant,p.Arg1081Gln,ENST00000301732,;ABCA3,upstream_gene_variant,,ENST00000569062,;ABCA3,downstream_gene_variant,,ENST00000563623,;ABCA3,upstream_gene_variant,,ENST00000566200,;	3943	65	129	SUCCESS
RBL2	5934	.	GRCh37	16	53488620	53488620	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	58	92	0	ENST00000262133.6:c.1045G>C	p.Asp349His	p.D349H	ENST00000262133	NM_005611.3	349	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS10748.1	1045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAGATGAG	NONE	.	.	hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8	.	.	ENSP00000262133	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,missense_variant,p.Asp133His,ENST00000544545,;RBL2,missense_variant,p.Asp349His,ENST00000262133,;RBL2,missense_variant,p.Asp275His,ENST00000544405,;RBL2,downstream_gene_variant,,ENST00000567964,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;	1182	92	64	SUCCESS
MPRIP	23164	.	GRCh37	17	17061859	17061859	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	63	92	0	ENST00000341712.4:c.1589G>A	p.Arg530His	p.R530H	ENST00000341712		530	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS42268.1	1589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGCGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF9	.	.	ENSP00000379156	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000395811	Transcript	.	.	ENSG00000133030	30321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.289)	.	deleterious(0.01)	.	MPRIP_HUMAN	MPRIP	HGNC	Q96EE5_HUMAN,Q8N236_HUMAN,Q5ZEZ6_HUMAN,J3KSK7_HUMAN	.	UPI0000200A77	SNV	MPRIP,missense_variant,p.Arg530His,ENST00000395811,;MPRIP,missense_variant,p.Arg17His,ENST00000313485,;MPRIP,missense_variant,p.Arg530His,ENST00000395804,;MPRIP,missense_variant,p.Arg336His,ENST00000584067,;MPRIP,missense_variant,p.Arg530His,ENST00000341712,;MPRIP,missense_variant,p.Arg492His,ENST00000444976,;MPRIP,intron_variant,,ENST00000579832,;MPRIP,non_coding_transcript_exon_variant,,ENST00000581955,;	1678	92	109	SUCCESS
EFCAB13	124989	.	GRCh37	17	45507195	45507195	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	79	0	ENST00000331493.2:c.2506C>G	p.Leu836Val	p.L836V	ENST00000331493	NM_152347.4	836	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11512.1	2506	MUTECT|MUSE|VARSCANS	.	AGATACTCTTA	NONE	.	.	hmmpanther:PTHR22656	.	.	ENSP00000332111	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.509)	.	tolerated(0.06)	.	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,missense_variant,p.Leu740Val,ENST00000517484,;EFCAB13,missense_variant,p.Leu836Val,ENST00000331493,;	2917	79	101	SUCCESS
TP53	7157	.	GRCh37	17	7578554	7578554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs886039483	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	45	52	0	ENST00000269305.4:c.376T>A	p.Tyr126Asn	p.Y126N	ENST00000269305	NM_001126112.2	126	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS11118.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTACTGTA	SITE|p.Y126N|c.376T>A|7,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y126_K132delYSPALNK|c.376_396del21|6,CODON|p.Y126_N131delYSPALN|c.376_393del18|3,CODON|p.Y126*|c.378C>G|3,CODON|p.Y126*|c.378C>G|4,CODON|p.Y126*|c.378C>G|3,CODON|p.Y126*|c.378C>A|4,CODON|p.Y33*|c.99C>G|3,CODON|p.Y126C|c.377A>G|6,CODON|p.Y33C|c.98A>G|6,CODON|p.Y126C|c.377A>G|3,CODON|p.Y126C|c.377A>G|6,CODON|p.Y126C|c.377A>G|9,CODON|p.Y126S|c.377A>C|3,CODON|p.Y126C|c.377A>G|5,BUFFER|p.P128L|c.383C>T|3,BUFFER|p.P128fs*42|c.382delC|3,BUFFER|p.P128S|c.382C>T|7,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S127Y|c.380C>A|10,BUFFER|p.S34F|c.101C>T|11,BUFFER|p.S127F|c.380C>T|4,BUFFER|p.S127F|c.380C>T|33,BUFFER|p.S127F|c.380C>T|3,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S34P|c.100T>C|4,BUFFER|p.S34T|c.100T>A|4,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.S127P|c.379T>C|8,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127T|c.379T>A|10,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.Y33D|c.97T>G|7,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.Y126D|c.376T>G|10,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.?|c.97-1G>T|3,BUFFER|p.?|c.376-1G>A|19,BUFFER|p.?|c.376-1G>A|11,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>A|10,BUFFER|p.?|c.376-1G>A|19,BUFFER|p.?|c.376-1G>A|11,BUFFER|p.?|c.97-1G>A|20,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>A|19,BUFFER|p.?|c.376-1G>T|9,BUFFER|p.?|c.376-2A>G|4,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.97-2A>T|3,BUFFER|p.?|c.97-2A>G|10,BUFFER|p.?|c.376-2A>G|17,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-2A>G|6,BUFFER|p.?|c.376-2A>C|4,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-4A>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	CM118879,TP53_g.12364T>A,TP53_g.12364T>G,TP53_g.12364T>C,COSM43900,COSM44380,COSM220783,COSM1480084,COSM1480085,COSM220782,COSM3388356,COSM2744964,COSM220784,COSM1480086	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr126Asn,ENST00000508793,;TP53,missense_variant,p.Tyr126Asn,ENST00000413465,;TP53,missense_variant,p.Tyr126Asn,ENST00000420246,;TP53,missense_variant,p.Tyr126Asn,ENST00000269305,;TP53,missense_variant,p.Tyr126Asn,ENST00000359597,;TP53,missense_variant,p.Tyr33Asn,ENST00000514944,;TP53,missense_variant,p.Tyr126Asn,ENST00000445888,;TP53,missense_variant,p.Tyr126Asn,ENST00000503591,;TP53,missense_variant,p.Tyr126Asn,ENST00000455263,;TP53,splice_region_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	566	52	49	SUCCESS
C19orf26	0	.	GRCh37	19	1235018	1235018	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772563253	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	70	0	ENST00000382477.2:c.419C>T	p.Thr140Met	p.T140M	ENST00000382477		140	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS12057.2	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTCTTG	NONE	byFrequency	.	.	.	.	ENSP00000465260	.	5/9	.	.	.	.	.	.	.	.	rs772563253,COSM3970715,COSM3970716	5/9	PASS	ENST00000590083	Transcript	.	.	ENSG00000099625	28617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.676)	.	deleterious(0)	0,1,1	.	C19orf26	HGNC	K7EJP2_HUMAN	.	UPI000059D617	SNV	C19orf26,missense_variant,p.Thr140Met,ENST00000382477,;C19orf26,missense_variant,p.Thr140Met,ENST00000215376,;C19orf26,missense_variant,p.Thr146Met,ENST00000590083,;AC004221.2,upstream_gene_variant,,ENST00000592843,;C19orf26,missense_variant,p.Thr23Met,ENST00000591127,;C19orf26,3_prime_UTR_variant,,ENST00000589260,;	730	70	77	SUCCESS
SIGLEC10	89790	.	GRCh37	19	51920435	51920435	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765309332	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	55	119	0	ENST00000339313.5:c.322G>A	p.Ala108Thr	p.A108T	ENST00000339313		108	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12832.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGCGTCTC	NONE	.	.	hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000348646	.	2/12	.	.	.	.	.	.	.	.	rs765309332	2/12	PASS	ENST00000356298	Transcript	.	.	ENSG00000142512	15620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0.01)	.	SIG10_HUMAN	SIGLEC10	HGNC	.	.	UPI0000047E1A	SNV	SIGLEC10,missense_variant,p.Ala108Thr,ENST00000436984,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000525998,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000432469,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000339313,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000442846,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000353836,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000356298,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000441969,;SIGLEC10,missense_variant,p.Ala108Thr,ENST00000439889,;SIGLEC10,missense_variant,p.Ala75Thr,ENST00000530476,;SIGLEC10,intron_variant,,ENST00000529627,;CTD-2616J11.2,non_coding_transcript_exon_variant,,ENST00000532688,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;CTD-2616J11.2,downstream_gene_variant,,ENST00000526996,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000524527,;SIGLEC10,intron_variant,,ENST00000357375,;	439	119	139	SUCCESS
MAGI3	260425	.	GRCh37	1	114215993	114215993	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	81	0	ENST00000307546.9:c.3095G>T	p.Gly1032Val	p.G1032V	ENST00000307546	NM_001142782.1	1032	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44196.1	3095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGATTCA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF10,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000304604	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000307546	Transcript	.	.	ENSG00000081026	29647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MAGI3_HUMAN	MAGI3	HGNC	.	.	UPI00004589AE	SNV	MAGI3,missense_variant,p.Gly1057Val,ENST00000369617,;MAGI3,missense_variant,p.Gly1032Val,ENST00000369615,;MAGI3,missense_variant,p.Gly1032Val,ENST00000307546,;MAGI3,missense_variant,p.Gly1032Val,ENST00000369611,;	3170	81	89	SUCCESS
SPTA1	6708	.	GRCh37	1	158648305	158648305	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs780355431	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	58	61	0	ENST00000368147.4:c.698C>G	p.Pro233Arg	p.P233R	ENST00000368147	NM_003126.2	233	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS41423.1	698	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGGGTAGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	6/52	.	.	.	.	.	.	.	.	rs780355431	6/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.579)	.	tolerated(0.28)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Pro233Arg,ENST00000368147,;SPTA1,missense_variant,p.Pro51Arg,ENST00000467387,;	879	61	117	SUCCESS
GORAB	92344	.	GRCh37	1	170511624	170511636	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CCCCCTAGGCAAG	CCCCCTAGGCAAG	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	CCCCCTAGGCAAG	CCCCCTAGGCAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	455	95	252	0	ENST00000367763.3:c.495-8_499delinsA		p.X165_splice	ENST00000367763	NM_152281.2	165		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1289.1	?-499	INDELOCATOR*|PINDEL	.	TTTTTGCCCCCTAGGCAAGAAAAA	NONE	.	.	.	.	.	ENSP00000356737	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000367763	Transcript	.	.	ENSG00000120370	25676	.	.	HIGH	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GORAB_HUMAN	GORAB	HGNC	.	.	UPI000013FDCA	substitution	GORAB,splice_acceptor_variant,,ENST00000367762,;GORAB,splice_acceptor_variant,,ENST00000367763,;GORAB,downstream_gene_variant,,ENST00000465717,;GORAB,splice_acceptor_variant,,ENST00000498600,;GORAB,splice_acceptor_variant,,ENST00000498166,;GORAB,upstream_gene_variant,,ENST00000475113,;	?-519	252	550	SUCCESS
EMC1	23065	.	GRCh37	1	19571434	19571434	+	synonymous_variant	Silent	SNP	C	C	A	rs775306558	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	101	238	0	ENST00000477853.1:c.186G>T	p.Val62=	p.V62=	ENST00000477853	NM_001271427.1	62	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS190.1	186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATCACATT	NONE	byFrequency	.	Superfamily_domains:SSF50998,Gene3D:2.140.10.10,Pfam_domain:PF13360,hmmpanther:PTHR21573,hmmpanther:PTHR21573:SF0	.	.	ENSP00000420608	.	2/23	.	.	.	.	.	.	.	.	rs775306558	2/23	PASS	ENST00000477853	Transcript	.	.	ENSG00000127463	28957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC1_HUMAN	EMC1	HGNC	.	.	UPI0000070A23	SNV	EMC1,synonymous_variant,p.%3D,ENST00000375208,;EMC1,synonymous_variant,p.%3D,ENST00000375199,;EMC1,synonymous_variant,p.%3D,ENST00000356068,;EMC1,synonymous_variant,p.%3D,ENST00000477853,;RP1-43E13.2,downstream_gene_variant,,ENST00000437898,;EMC1,upstream_gene_variant,,ENST00000467423,;EMC1,synonymous_variant,p.%3D,ENST00000475079,;EMC1,non_coding_transcript_exon_variant,,ENST00000488681,;	229	238	242	SUCCESS
PFKFB2	5208	.	GRCh37	1	207228111	207228111	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	36	66	0	ENST00000367080.3:c.49A>G	p.Lys17Glu	p.K17E	ENST00000367080	NM_006212.2	17	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS31004.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAAAACC	NONE	.	.	hmmpanther:PTHR10606:SF13,hmmpanther:PTHR10606,PIRSF_domain:PIRSF000709	.	.	ENSP00000356047	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000367080	Transcript	.	.	ENSG00000123836	8873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	F262_HUMAN	PFKFB2	HGNC	B0FLL2_HUMAN	.	UPI000012A3F0	SNV	PFKFB2,missense_variant,p.Lys17Glu,ENST00000367080,;PFKFB2,missense_variant,p.Lys17Glu,ENST00000367079,;PFKFB2,5_prime_UTR_variant,,ENST00000411990,;PFKFB2,5_prime_UTR_variant,,ENST00000545806,;YOD1,upstream_gene_variant,,ENST00000315927,;YOD1,upstream_gene_variant,,ENST00000367084,;YOD1,upstream_gene_variant,,ENST00000391927,;PFKFB2,non_coding_transcript_exon_variant,,ENST00000464777,;PFKFB2,non_coding_transcript_exon_variant,,ENST00000468857,;	173	66	152	SUCCESS
RD3	343035	.	GRCh37	1	211654728	211654728	+	synonymous_variant	Silent	SNP	G	G	A	rs774563819	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	40	81	0	ENST00000367002.4:c.30C>T	p.Asn10=	p.N10=	ENST00000367002	NM_001164688.1	10	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS1498.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGTTCCA	NONE	byFrequency	.	Pfam_domain:PF14473	.	.	ENSP00000355969	.	2/3	.	.	.	.	.	.	.	.	rs774563819,COSM370687,COSM81648	2/3	PASS	ENST00000367002	Transcript	.	.	ENSG00000198570	19689	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	RD3_HUMAN	RD3	HGNC	.	.	UPI00001BB29F	SNV	RD3,synonymous_variant,p.%3D,ENST00000367002,;RD3,intron_variant,,ENST00000484910,;	1194	81	148	SUCCESS
NBPF3	84224	.	GRCh37	1	21799392	21799392	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	98	0	ENST00000318249.5:c.718G>C	p.Glu240Gln	p.E240Q	ENST00000318249	NM_032264.4	240	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS216.1	718	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGGAATTA	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF15,hmmpanther:PTHR14199,Pfam_domain:PF06758	.	.	ENSP00000316782	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000318249	Transcript	.	.	ENSG00000142794	25076	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.24)	.	tolerated(0.05)	.	NBPF3_HUMAN	NBPF3	HGNC	.	.	UPI0000037D6C	SNV	NBPF3,missense_variant,p.Glu184Gln,ENST00000434838,;NBPF3,missense_variant,p.Glu240Gln,ENST00000318249,;NBPF3,missense_variant,p.Glu184Gln,ENST00000318220,;NBPF3,missense_variant,p.Glu170Gln,ENST00000454000,;NBPF3,missense_variant,p.Glu240Gln,ENST00000342104,;NBPF3,downstream_gene_variant,,ENST00000486229,;NBPF3,upstream_gene_variant,,ENST00000477050,;NBPF3,upstream_gene_variant,,ENST00000469876,;	1068	98	83	SUCCESS
OR2M2	391194	.	GRCh37	1	248343509	248343509	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	260	80	153	0	ENST00000359682.2:c.222C>G	p.Ile74Met	p.I74M	ENST00000359682	NM_001004688.1	74	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS31106.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCTGCAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF204,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000352710	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359682	Transcript	.	.	ENSG00000198601	8268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	tolerated(0.06)	.	OR2M2_HUMAN	OR2M2	HGNC	.	.	UPI00001612E4	SNV	OR2M2,missense_variant,p.Ile74Met,ENST00000359682,;	222	153	341	SUCCESS
EXTL1	2134	.	GRCh37	1	26349075	26349090	+	5_prime_UTR_variant	5'UTR	DEL	CTGCTCTTCCTGCTTG	CTGCTCTTCCTGCTTG	-	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	CTGCTCTTCCTGCTTG	CTGCTCTTCCTGCTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	124	65	183	0	ENST00000374280.3:c.-60_-45del		p.*20*	ENST00000374280	NM_004455.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS271.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGCCCTGCTCTTCCTGCTTGCTGGC	NONE	.	.	.	.	.	ENSP00000363398	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000374280	Transcript	.	.	ENSG00000158008	3515	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXTL1_HUMAN	EXTL1	HGNC	.	.	UPI000013DF48	deletion	EXTL1,5_prime_UTR_variant,,ENST00000374280,;EXTL1,intron_variant,,ENST00000481377,;EXTL1,upstream_gene_variant,,ENST00000484339,;	805-820	183	189	SUCCESS
RBBP4	5928	.	GRCh37	1	33145241	33145241	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	49	0	ENST00000373493.5:c.1213G>A	p.Ala405Thr	p.A405T	ENST00000373493	NM_005610.2	405	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS366.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGCAGAG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF90,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000362592	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000373493	Transcript	.	.	ENSG00000162521	9887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	tolerated(0.17)	.	RBBP4_HUMAN	RBBP4	HGNC	H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN	.	UPI000013318C	SNV	RBBP4,missense_variant,p.Ala404Thr,ENST00000414241,;RBBP4,missense_variant,p.Ala405Thr,ENST00000373493,;RBBP4,missense_variant,p.Ala370Thr,ENST00000458695,;RBBP4,missense_variant,p.Ala153Thr,ENST00000544435,;RBBP4,synonymous_variant,p.%3D,ENST00000482190,;RBBP4,synonymous_variant,p.%3D,ENST00000463378,;RBBP4,intron_variant,,ENST00000373485,;SYNC,downstream_gene_variant,,ENST00000409190,;SYNC,downstream_gene_variant,,ENST00000373484,;RBBP4,missense_variant,p.Ala160Thr,ENST00000460669,;RBBP4,splice_region_variant,,ENST00000492348,;	1372	49	61	SUCCESS
RBBP4	5928	.	GRCh37	1	33145248	33145248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	48	0	ENST00000373493.5:c.1220A>T	p.Asn407Ile	p.N407I	ENST00000373493	NM_005610.2	407	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS366.1	1220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAACATTT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF90,Superfamily_domains:SSF50978	.	.	ENSP00000362592	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000373493	Transcript	.	.	ENSG00000162521	9887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.07)	.	RBBP4_HUMAN	RBBP4	HGNC	H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN	.	UPI000013318C	SNV	RBBP4,missense_variant,p.Asn406Ile,ENST00000414241,;RBBP4,missense_variant,p.Thr147Ser,ENST00000482190,;RBBP4,missense_variant,p.Asn407Ile,ENST00000373493,;RBBP4,missense_variant,p.Asn372Ile,ENST00000458695,;RBBP4,missense_variant,p.Asn155Ile,ENST00000544435,;RBBP4,missense_variant,p.Thr208Ser,ENST00000463378,;RBBP4,intron_variant,,ENST00000373485,;SYNC,downstream_gene_variant,,ENST00000409190,;SYNC,downstream_gene_variant,,ENST00000373484,;RBBP4,missense_variant,p.Asn162Ile,ENST00000460669,;RBBP4,3_prime_UTR_variant,,ENST00000492348,;	1379	48	64	SUCCESS
WDR78	0	.	GRCh37	1	67340614	67340614	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	46	0	ENST00000371026.3:c.650A>G	p.Gln217Arg	p.Q217R	ENST00000371026	NM_024763.4	217	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS635.1	650	MUTECT|MUSE	.	TAACTTGCAAA	NONE	.	.	hmmpanther:PTHR12442:SF12,hmmpanther:PTHR12442	.	.	ENSP00000360065	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000371026	Transcript	.	.	ENSG00000152763	26252	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.59)	.	WDR78_HUMAN	WDR78	HGNC	.	.	UPI00004561EF	SNV	WDR78,missense_variant,p.Gln217Arg,ENST00000371023,;WDR78,missense_variant,p.Gln217Arg,ENST00000371026,;WDR78,missense_variant,p.Gln217Arg,ENST00000371022,;WDR78,5_prime_UTR_variant,,ENST00000431318,;WDR78,upstream_gene_variant,,ENST00000469450,;WDR78,upstream_gene_variant,,ENST00000464352,;WDR78,intron_variant,,ENST00000491297,;WDR78,intron_variant,,ENST00000531980,;	706	46	32	SUCCESS
LRRC7	57554	.	GRCh37	1	70504162	70504162	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	90	214	0	ENST00000035383.5:c.2541A>G	p.Arg847=	p.R847=	ENST00000035383	NM_020794.2	847	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS645.1	2541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGAACCCC	NONE	.	.	.	.	.	ENSP00000035383	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,synonymous_variant,p.%3D,ENST00000415775,;LRRC7,synonymous_variant,p.%3D,ENST00000035383,;LRRC7,synonymous_variant,p.%3D,ENST00000310961,;	2571	214	199	SUCCESS
SCRN3	79634	.	GRCh37	2	175292534	175292534	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	193	322	0	ENST00000272732.6:c.1186G>T	p.Val396Leu	p.V396L	ENST00000272732	NM_024583.4	396	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS2258.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGTGGAG	NONE	.	.	hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF18	.	.	ENSP00000272732	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000272732	Transcript	.	.	ENSG00000144306	30382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.72)	.	SCRN3_HUMAN	SCRN3	HGNC	H9KVC8_HUMAN,F8W0M9_HUMAN,C9JNS3_HUMAN,C9JID8_HUMAN	.	UPI00002090F8	SNV	SCRN3,missense_variant,p.Val396Leu,ENST00000272732,;SCRN3,missense_variant,p.Val389Leu,ENST00000409673,;GPR155,downstream_gene_variant,,ENST00000392552,;SCRN3,non_coding_transcript_exon_variant,,ENST00000475928,;SCRN3,non_coding_transcript_exon_variant,,ENST00000549848,;SCRN3,non_coding_transcript_exon_variant,,ENST00000548921,;SCRN3,downstream_gene_variant,,ENST00000490927,;SCRN3,3_prime_UTR_variant,,ENST00000548868,;SCRN3,3_prime_UTR_variant,,ENST00000437944,;	1268	322	371	SUCCESS
ANKRD20A8P	729171	.	GRCh37	2	95481108	95481108	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	rs368471245	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	55	0	ENST00000432432.2:n.2253C>G		p.*751*	ENST00000432432				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGATACA	NONE	.	.	.	.	.	.	.	15/15	.	.	.	.	.	.	.	.	rs368471245	15/15	PASS	ENST00000432432	Transcript	.	.	ENSG00000229089	23666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKRD20A8P	HGNC	.	.	.	SNV	ANKRD20A8P,non_coding_transcript_exon_variant,,ENST00000432432,;ANKRD20A8P,non_coding_transcript_exon_variant,,ENST00000590226,;ANKRD20A8P,non_coding_transcript_exon_variant,,ENST00000446135,;	2253	55	46	SUCCESS
VWA3B	200403	.	GRCh37	2	98852884	98852884	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	57	147	0	ENST00000477737.1:c.2460G>T	p.Leu820=	p.L820=	ENST00000477737	NM_144992.4	820	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42718.1	2460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGGATGA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,synonymous_variant,p.%3D,ENST00000477737,;VWA3B,synonymous_variant,p.%3D,ENST00000473149,;VWA3B,upstream_gene_variant,,ENST00000465555,;VWA3B,intron_variant,,ENST00000485216,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000416277,;VWA3B,3_prime_UTR_variant,,ENST00000448638,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	2664	147	149	SUCCESS
GOLGB1	2804	.	GRCh37	3	121416741	121416741	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	57	78	0	ENST00000340645.5:c.2614G>A	p.Glu872Lys	p.E872K	ENST00000340645	NM_001256487.1	872	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS58847.1	2629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCCTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.3)	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,missense_variant,p.Glu877Lys,ENST00000393667,;GOLGB1,missense_variant,p.Glu872Lys,ENST00000340645,;GOLGB1,missense_variant,p.Glu836Lys,ENST00000494517,;GOLGB1,missense_variant,p.Glu743Lys,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	2740	78	99	SUCCESS
EPHB3	2049	.	GRCh37	3	184298884	184298884	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	54	70	0	ENST00000330394.2:c.2663T>A	p.Ile888Asn	p.I888N	ENST00000330394	NM_004443.3	888	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS3268.1	2663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATTGTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000332118	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Ile888Asn,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,downstream_gene_variant,,ENST00000482987,;EPHB3,downstream_gene_variant,,ENST00000473079,;	3115	70	95	SUCCESS
GNAT1	2779	.	GRCh37	3	50232232	50232232	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	85	0	ENST00000232461.3:c.897C>A	p.Ile299=	p.I299=	ENST00000232461	NM_144499.2	299	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS2812.1	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCAAGGT	NONE	.	.	hmmpanther:PTHR10218:SF67,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00441	.	.	ENSP00000232461	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000232461	Transcript	.	.	ENSG00000114349	4393	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNAT1_HUMAN	GNAT1	HGNC	C9JCV8_HUMAN	.	UPI000000124C	SNV	GNAT1,synonymous_variant,p.%3D,ENST00000433068,;GNAT1,synonymous_variant,p.%3D,ENST00000232461,;GNAT1,downstream_gene_variant,,ENST00000440836,;GNAT1,downstream_gene_variant,,ENST00000481246,;GNAT1,downstream_gene_variant,,ENST00000467787,;	1011	85	83	SUCCESS
SEMA3G	56920	.	GRCh37	3	52472194	52472194	+	synonymous_variant	Silent	SNP	G	G	T	rs371791154	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	132	0	ENST00000231721.2:c.1531C>A	p.Arg511=	p.R511=	ENST00000231721	NM_020163.1	511	Cgg/Agg	0	A:0	.	.	.	.	T	R	protein_coding	YES	CCDS2856.1	1531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGAGAGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	A:0.0002	ENSP00000231721	.	14/16	.	.	.	.	.	.	.	.	rs371791154,COSM584252	14/16	PASS	ENST00000231721	Transcript	.	.	ENSG00000010319	30400	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SEM3G_HUMAN	SEMA3G	HGNC	.	.	UPI000004250D	SNV	SEMA3G,synonymous_variant,p.%3D,ENST00000231721,;SEMA3G,downstream_gene_variant,,ENST00000475739,;SEMA3G,downstream_gene_variant,,ENST00000465657,;	1531	132	128	SUCCESS
CNTN3	5067	.	GRCh37	3	74548873	74548873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	44	0	ENST00000263665.6:c.119G>T	p.Gly40Val	p.G40V	ENST00000263665	NM_020872.1	40	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33790.1	119	MUTECT|MUSE	.	CTGAACCAACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF54,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000263665	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000263665	Transcript	.	.	ENSG00000113805	2173	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.84)	.	deleterious(0.02)	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	SNV	CNTN3,missense_variant,p.Gly40Val,ENST00000263665,;	147	44	60	SUCCESS
PRDM5	11107	.	GRCh37	4	121706177	121706177	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753303327	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	19	41	0	ENST00000264808.3:c.1258C>G	p.Gln420Glu	p.Q420E	ENST00000264808	NM_018699.2	420	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS3716.1	1258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGTAAAG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF17,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264808	.	11/16	.	.	.	.	.	.	.	.	rs753303327	11/16	PASS	ENST00000264808	Transcript	1	.	ENSG00000138738	9349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	tolerated(0.14)	.	PRDM5_HUMAN	PRDM5	HGNC	.	.	UPI000013D572	SNV	PRDM5,missense_variant,p.Gln389Glu,ENST00000428209,;PRDM5,missense_variant,p.Gln420Glu,ENST00000264808,;PRDM5,missense_variant,p.Gln389Glu,ENST00000515109,;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;PRDM5,downstream_gene_variant,,ENST00000502409,;PRDM5,downstream_gene_variant,,ENST00000503661,;	1499	41	32	SUCCESS
TRIML1	339976	.	GRCh37	4	189061721	189061721	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1043054135	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	59	107	0	ENST00000332517.3:c.448A>G	p.Arg150Gly	p.R150G	ENST00000332517	NM_178556.3	150	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS3851.1	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGAGAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291	.	.	ENSP00000327738	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000332517	Transcript	.	.	ENSG00000184108	26698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.07)	.	TRIML_HUMAN	TRIML1	HGNC	.	.	UPI000006FC8A	SNV	TRIML1,missense_variant,p.Arg150Gly,ENST00000332517,;RP11-366H4.3,downstream_gene_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000512233,;TRIML1,upstream_gene_variant,,ENST00000507581,;	588	107	63	SUCCESS
DCAF4L1	285429	.	GRCh37	4	41984060	41984060	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	72	131	0	ENST00000333141.5:c.251A>T	p.Asp84Val	p.D84V	ENST00000333141	NM_001029955.3	84	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS33978.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGACCAGC	NONE	.	.	hmmpanther:PTHR22847:SF327,hmmpanther:PTHR22847	.	.	ENSP00000327796	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333141	Transcript	.	.	ENSG00000182308	27723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0)	.	DC4L1_HUMAN	DCAF4L1	HGNC	.	.	UPI0000160C25	SNV	DCAF4L1,missense_variant,p.Asp84Val,ENST00000333141,;	348	131	158	SUCCESS
CRMP1	1400	.	GRCh37	4	5853138	5853138	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	89	0	ENST00000397890.2:c.537C>T	p.Ser179=	p.S179=	ENST00000397890	NM_001313.3	179	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33950.1	879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGCTGTC	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:3.20.20.140,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	.	ENSP00000321606	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	SNV	CRMP1,synonymous_variant,p.%3D,ENST00000512574,;CRMP1,synonymous_variant,p.%3D,ENST00000324989,;CRMP1,synonymous_variant,p.%3D,ENST00000397890,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	968	89	97	SUCCESS
TMED9	54732	.	GRCh37	5	177021211	177021211	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	87	185	0	ENST00000332598.6:c.483G>A	p.Leu161=	p.L161=	ENST00000332598	NM_017510.4	161	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4428.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTGAGTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22811:SF37,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000330945	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000332598	Transcript	.	.	ENSG00000184840	24878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMED9_HUMAN	TMED9	HGNC	.	.	UPI00001D6EC0	SNV	TMED9,synonymous_variant,p.%3D,ENST00000332598,;TMED9,downstream_gene_variant,,ENST00000507578,;TMED9,non_coding_transcript_exon_variant,,ENST00000510499,;TMED9,non_coding_transcript_exon_variant,,ENST00000513799,;TMED9,non_coding_transcript_exon_variant,,ENST00000507723,;TMED9,downstream_gene_variant,,ENST00000505521,;	540	185	201	SUCCESS
FGF10	2255	.	GRCh37	5	44388524	44388524	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs545941601	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	54	86	0	ENST00000264664.4:c.261G>T	p.Lys87Asn	p.K87N	ENST00000264664	NM_004465.1	87	aaG/aaT	0	.	T:0	.	T:0	.	A	K/N	protein_coding	YES	CCDS3950.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACTTGGT	NONE	by1000G	.	hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF21,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263	T:0	.	ENSP00000264664	T:0	1/3	.	.	.	.	.	.	.	.	rs545941601	1/3	PASS	ENST00000264664	Transcript	1	T:0.0002	ENSG00000070193	3666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	T:0.001	tolerated(0.05)	.	FGF10_HUMAN	FGF10	HGNC	Q8NFI9_HUMAN,D6RG33_HUMAN,C7FDY0_HUMAN	.	UPI000004065F	SNV	FGF10,missense_variant,p.Lys87Asn,ENST00000264664,;FGF10,downstream_gene_variant,,ENST00000513107,;FGF10-AS1,upstream_gene_variant,,ENST00000502457,;	376	86	175	SUCCESS
MTRF1L	54516	.	GRCh37	6	153316444	153316444	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	62	125	0	ENST00000367233.5:c.350T>G	p.Leu117Arg	p.L117R	ENST00000367233	NM_019041.5	117	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5243.1	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAAGTAAG	NONE	.	.	Superfamily_domains:SSF75620,SMART_domains:SM00937,Pfam_domain:PF03462,hmmpanther:PTHR11075:SF42,hmmpanther:PTHR11075	.	.	ENSP00000356202	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000367233	Transcript	.	.	ENSG00000112031	21051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	tolerated(0.17)	.	RF1ML_HUMAN	MTRF1L	HGNC	.	.	UPI0000071978	SNV	MTRF1L,missense_variant,p.Leu117Arg,ENST00000367230,;MTRF1L,missense_variant,p.Leu117Arg,ENST00000367233,;MTRF1L,missense_variant,p.Leu117Arg,ENST00000367231,;MTRF1L,missense_variant,p.Leu4Arg,ENST00000414771,;MTRF1L,upstream_gene_variant,,ENST00000448966,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000463251,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000485283,;MTRF1L,intron_variant,,ENST00000464135,;MTRF1L,intron_variant,,ENST00000485512,;MTRF1L,upstream_gene_variant,,ENST00000461949,;MTRF1L,downstream_gene_variant,,ENST00000482526,;	350	125	157	SUCCESS
OR2W1	26692	.	GRCh37	6	29012190	29012190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	92	158	0	ENST00000377175.1:c.763A>G	p.Ile255Val	p.I255V	ENST00000377175	NM_030903.3	255	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS4656.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAATAGTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF169,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366380	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377175	Transcript	.	.	ENSG00000204704	8281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.27)	.	OR2W1_HUMAN	OR2W1	HGNC	.	.	UPI000003FF8A	SNV	OR2W1,missense_variant,p.Ile255Val,ENST00000377175,;	828	158	188	SUCCESS
ZNF716	441234	.	GRCh37	7	57529237	57529237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	71	125	0	ENST00000420713.1:c.1070G>T	p.Cys357Phe	p.C357F	ENST00000420713	NM_001159279.1	357	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS55112.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATGTGGGA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000394248	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Cys357Phe,ENST00000420713,;	1182	125	160	SUCCESS
TECPR1	25851	.	GRCh37	7	97863048	97863048	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	49	108	0	ENST00000447648.2:c.1357A>G	p.Thr453Ala	p.T453A	ENST00000447648	NM_015395.2	453	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47648.1	1357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGTCCTGC	NONE	.	.	hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1	.	.	ENSP00000404923	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000447648	Transcript	.	.	ENSG00000205356	22214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.7)	.	TCPR1_HUMAN	TECPR1	HGNC	C9JUV4_HUMAN	.	UPI0000161940	SNV	TECPR1,missense_variant,p.Thr453Ala,ENST00000447648,;TECPR1,missense_variant,p.Thr383Ala,ENST00000542604,;TECPR1,missense_variant,p.Thr453Ala,ENST00000379795,;TECPR1,non_coding_transcript_exon_variant,,ENST00000471397,;TECPR1,upstream_gene_variant,,ENST00000479911,;TECPR1,upstream_gene_variant,,ENST00000476659,;TECPR1,non_coding_transcript_exon_variant,,ENST00000490842,;TECPR1,downstream_gene_variant,,ENST00000463648,;TECPR1,upstream_gene_variant,,ENST00000483740,;	1657	108	151	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110477316	110477316	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	72	150	0	ENST00000378402.5:c.8255T>A	p.Val2752Glu	p.V2752E	ENST00000378402	NM_177531.4	2752	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47911.1	8255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTAGCTT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,SMART_domains:SM00710	.	.	ENSP00000367655	.	49/78	.	.	.	.	.	.	.	.	.	49/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.04)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Val2752Glu,ENST00000378402,;	8359	150	252	SUCCESS
NEIL2	252969	.	GRCh37	8	11637363	11637363	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147360797	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	35	75	0	ENST00000284503.6:c.395G>A	p.Arg132His	p.R132H	ENST00000284503	NM_145043.2	132	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS5984.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGTGTCA	NONE	byCluster	.	PROSITE_profiles:PS51068,hmmpanther:PTHR22993,Pfam_domain:PF01149	.	A:0	ENSP00000284503	.	3/5	.	.	.	.	.	.	.	.	rs147360797	3/5	PASS	ENST00000284503	Transcript	.	.	ENSG00000154328	18956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.14)	.	NEIL2_HUMAN	NEIL2	HGNC	Q3ZCR7_HUMAN	.	UPI000006D86F	SNV	NEIL2,missense_variant,p.Arg132His,ENST00000455213,;NEIL2,missense_variant,p.Arg71His,ENST00000403422,;NEIL2,missense_variant,p.Arg132His,ENST00000284503,;NEIL2,missense_variant,p.Arg132His,ENST00000436750,;NEIL2,intron_variant,,ENST00000528323,;NEIL2,intron_variant,,ENST00000528113,;NEIL2,upstream_gene_variant,,ENST00000524741,;	994	75	44	SUCCESS
KLF9	687	.	GRCh37	9	73028153	73028153	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	65	0	ENST00000377126.2:c.127G>A	p.Val43Met	p.V43M	ENST00000377126	NM_001206.2	43	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS6633.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCACCTCGC	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF131	.	.	ENSP00000366330	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000377126	Transcript	.	.	ENSG00000119138	1123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.11)	.	KLF9_HUMAN	KLF9	HGNC	.	.	UPI0000126B0A	SNV	KLF9,missense_variant,p.Val43Met,ENST00000377126,;	1388	65	55	SUCCESS
SEC31B	25956	.	GRCh37	10	102250575	102250575	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	74	0	ENST00000370345.3:c.2538A>T	p.Ala846=	p.A846=	ENST00000370345	NM_015490.3	846	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7495.1	2538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTGCCAA	NONE	.	.	hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	.	.	ENSP00000359370	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,synonymous_variant,p.%3D,ENST00000370345,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,upstream_gene_variant,,ENST00000485800,;SEC31B,upstream_gene_variant,,ENST00000492667,;SEC31B,downstream_gene_variant,,ENST00000484848,;	2636	74	66	SUCCESS
NOLC1	9221	.	GRCh37	10	103912138	103912138	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs750680222	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	20	0	ENST00000605788.1:c.-30A>T		p.*10*	ENST00000605788	NM_004741.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7530.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGACAACG	NONE	byFrequency	.	.	.	.	ENSP00000474710	.	1/13	.	.	.	.	.	.	.	.	rs750680222	1/13	PASS	ENST00000605788	Transcript	.	.	ENSG00000166197	15608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NOLC1_HUMAN	NOLC1	HGNC	Q96J17_HUMAN	.	UPI000013E575	SNV	NOLC1,5_prime_UTR_variant,,ENST00000605788,;NOLC1,5_prime_UTR_variant,,ENST00000405356,;NOLC1,upstream_gene_variant,,ENST00000476468,;PPRC1,downstream_gene_variant,,ENST00000413464,;NOLC1,upstream_gene_variant,,ENST00000461421,;NOLC1,upstream_gene_variant,,ENST00000370007,;NOLC1,upstream_gene_variant,,ENST00000488254,;NOLC1,upstream_gene_variant,,ENST00000603742,;PPRC1,downstream_gene_variant,,ENST00000278070,;PPRC1,downstream_gene_variant,,ENST00000370012,;PPRC1,downstream_gene_variant,,ENST00000495914,;PPRC1,downstream_gene_variant,,ENST00000489648,;NOLC1,upstream_gene_variant,,ENST00000603946,;NOLC1,upstream_gene_variant,,ENST00000464969,;	206	20	29	SUCCESS
GBF1	8729	.	GRCh37	10	104018779	104018779	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	33	144	0	ENST00000369983.3:c.84C>A	p.Thr28=	p.T28=	ENST00000369983	NM_004193.2	28	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7533.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCCATAC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138	.	.	ENSP00000359000	.	2/40	.	.	.	.	.	.	.	.	.	2/40	PASS	ENST00000369983	Transcript	.	.	ENSG00000107862	4181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBF1_HUMAN	GBF1	HGNC	Q149P0_HUMAN	.	UPI000012B228	SNV	GBF1,synonymous_variant,p.%3D,ENST00000369983,;AL160011.1,upstream_gene_variant,,ENST00000516180,;	344	144	126	SUCCESS
XPNPEP1	7511	.	GRCh37	10	111630571	111630572	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	108	26	100	0	ENST00000502935.1:c.1613dup	p.Leu538PhefsTer5	p.L538Ffs*5	ENST00000502935		538	ttg/ttTg	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS7560.2	1613-1614	VARSCANI*|PINDEL	.	ACATTCAAAAA	NONE	.	.	hmmpanther:PTHR10804:SF87,hmmpanther:PTHR10804,PROSITE_patterns:PS00491,Gene3D:3.90.230.10,Pfam_domain:PF00557,Superfamily_domains:SSF55920	.	.	ENSP00000421566	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000502935	Transcript	.	.	ENSG00000108039	12822	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XPP1_HUMAN	XPNPEP1	HGNC	Q68EA4_HUMAN,Q5T6H7_HUMAN,Q5T6H2_HUMAN,B4E2P4_HUMAN,B4DIS4_HUMAN	.	UPI00003D2EAD	insertion	XPNPEP1,frameshift_variant,p.Leu424PhefsTer5,ENST00000369683,;XPNPEP1,frameshift_variant,p.Leu495PhefsTer5,ENST00000369680,;XPNPEP1,frameshift_variant,p.Leu514PhefsTer5,ENST00000322238,;XPNPEP1,frameshift_variant,p.Leu538PhefsTer5,ENST00000502935,;U4,downstream_gene_variant,,ENST00000607255,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000494499,;XPNPEP1,downstream_gene_variant,,ENST00000510988,;XPNPEP1,downstream_gene_variant,,ENST00000494564,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000488118,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000369658,;XPNPEP1,downstream_gene_variant,,ENST00000472336,;	1733-1734	100	134	SUCCESS
MCM10	55388	.	GRCh37	10	13243528	13243528	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1431767040	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	66	0	ENST00000484800.2:c.2349C>A	p.Cys783Ter	p.C783*	ENST00000484800		783	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS7096.1	2349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCAAGAC	NONE	.	.	hmmpanther:PTHR13454,Pfam_domain:PF09332	.	.	ENSP00000418268	.	17/20	.	.	.	.	.	.	.	.	COSM1257459	17/20	PASS	ENST00000484800	Transcript	.	.	ENSG00000065328	18043	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,stop_gained,p.Cys783Ter,ENST00000484800,;MCM10,stop_gained,p.Cys782Ter,ENST00000378714,;MCM10,stop_gained,p.Cys782Ter,ENST00000378694,;MCM10,non_coding_transcript_exon_variant,,ENST00000481292,;MCM10,non_coding_transcript_exon_variant,,ENST00000485659,;	2452	66	63	SUCCESS
COMMD3	23412	.	GRCh37	10	22605412	22605412	+	synonymous_variant	Silent	SNP	C	C	T	rs940556387	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	27	89	0	ENST00000376836.3:c.66C>T	p.Ser22=	p.S22=	ENST00000376836	NM_012071.3	22	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7137.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCAACGC	NONE	.	.	hmmpanther:PTHR31159:SF1,hmmpanther:PTHR31159,Pfam_domain:PF07258	.	.	ENSP00000366032	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000376836	Transcript	.	.	ENSG00000148444	23332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMD3_HUMAN	COMMD3	HGNC	.	.	UPI000006F319	SNV	COMMD3,stop_gained,p.Gln14Ter,ENST00000448361,;COMMD3,synonymous_variant,p.%3D,ENST00000456711,;COMMD3,synonymous_variant,p.%3D,ENST00000376836,;COMMD3-BMI1,synonymous_variant,p.%3D,ENST00000602390,;COMMD3,synonymous_variant,p.%3D,ENST00000444869,;COMMD3-BMI1,synonymous_variant,p.%3D,ENST00000475460,;COMMD3-BMI1,synonymous_variant,p.%3D,ENST00000489125,;COMMD3,upstream_gene_variant,,ENST00000471350,;BMI1,upstream_gene_variant,,ENST00000376663,;COMMD3-BMI1,non_coding_transcript_exon_variant,,ENST00000463409,;COMMD3,upstream_gene_variant,,ENST00000483684,;COMMD3,upstream_gene_variant,,ENST00000472673,;COMMD3,upstream_gene_variant,,ENST00000468469,;COMMD3,synonymous_variant,p.%3D,ENST00000472610,;COMMD3-BMI1,synonymous_variant,p.%3D,ENST00000417470,;COMMD3,non_coding_transcript_exon_variant,,ENST00000470045,;COMMD3,non_coding_transcript_exon_variant,,ENST00000463688,;COMMD3,non_coding_transcript_exon_variant,,ENST00000496071,;COMMD3,non_coding_transcript_exon_variant,,ENST00000479958,;COMMD3,non_coding_transcript_exon_variant,,ENST00000602574,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468179,;BMI1,upstream_gene_variant,,ENST00000602523,;COMMD3-BMI1,upstream_gene_variant,,ENST00000602395,;	510	89	104	SUCCESS
ZEB1	6935	.	GRCh37	10	31816120	31816120	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772715636	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	48	0	ENST00000320985.10:c.3303A>T	p.Gln1101His	p.Q1101H	ENST00000320985		1101	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS53505.1	3306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAAGCAAG	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF3	.	.	ENSP00000354487	.	9/9	.	.	.	.	.	.	.	.	rs772715636	9/9	PASS	ENST00000361642	Transcript	1	.	ENSG00000148516	11642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious_low_confidence(0.01)	.	ZEB1_HUMAN	ZEB1	HGNC	F6TDF5_HUMAN	.	UPI000068F51D	SNV	ZEB1,missense_variant,p.Gln1081His,ENST00000560721,;ZEB1,missense_variant,p.Gln1085His,ENST00000446923,;ZEB1,missense_variant,p.Gln1102His,ENST00000361642,;ZEB1,missense_variant,p.Gln1101His,ENST00000320985,;ZEB1,missense_variant,p.Gln1034His,ENST00000542815,;ZEB1,downstream_gene_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,downstream_gene_variant,,ENST00000558655,;	3369	48	60	SUCCESS
ZNF365	22891	.	GRCh37	10	64148324	64148324	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	41	0	ENST00000395254.3:c.913A>T	p.Ser305Cys	p.S305C	ENST00000395254	NM_014951.2	305	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS7264.1	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCAGCGGG	NONE	.	.	hmmpanther:PTHR15739	.	.	ENSP00000387091	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious_low_confidence(0.02)	.	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,missense_variant,p.Ser305Cys,ENST00000395254,;ZNF365,missense_variant,p.Ser305Cys,ENST00000410046,;ZNF365,missense_variant,p.Ser305Cys,ENST00000395255,;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,;	1193	41	54	SUCCESS
TET1	80312	.	GRCh37	10	70446431	70446431	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	117	0	ENST00000373644.4:c.5371A>T	p.Asn1791Tyr	p.N1791Y	ENST00000373644	NM_030625.2	1791	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS7281.1	5371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAACAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2,Pfam_domain:PF12851	.	.	ENSP00000362748	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.726)	.	deleterious(0.05)	.	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Asn1791Tyr,ENST00000373644,;	5580	117	130	SUCCESS
PRF1	5551	.	GRCh37	10	72358753	72358753	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	105	0	ENST00000373209.2:c.724T>A	p.Cys242Ser	p.C242S	ENST00000373209		242	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS7305.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCAGGTGC	NONE	.	.	PROSITE_profiles:PS51412,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000398568	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441259	Transcript	1	.	ENSG00000180644	9360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PERF_HUMAN	PRF1	HGNC	S5S2F2_HUMAN,S5RDP5_HUMAN	.	UPI000013162B	SNV	PRF1,missense_variant,p.Cys242Ser,ENST00000373209,;PRF1,missense_variant,p.Cys242Ser,ENST00000441259,;	885	105	77	SUCCESS
IFIT3	3437	.	GRCh37	10	91099326	91099326	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	112	0	ENST00000371811.4:c.914A>T	p.Glu305Val	p.E305V	ENST00000371811	NM_001031683.2	305	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7402.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGAGATGA	NONE	.	.	hmmpanther:PTHR10271:SF3,hmmpanther:PTHR10271	.	.	ENSP00000360883	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371818	Transcript	.	.	ENSG00000119917	5411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	deleterious(0)	.	IFIT3_HUMAN	IFIT3	HGNC	Q5T765_HUMAN,B4DLS7_HUMAN	.	UPI000012D3E5	SNV	IFIT3,missense_variant,p.Glu305Val,ENST00000371811,;IFIT3,missense_variant,p.Glu305Val,ENST00000371818,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000489359,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	1094	112	107	SUCCESS
BTAF1	9044	.	GRCh37	10	93699802	93699802	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	52	156	0	ENST00000265990.6:c.233del	p.Pro78GlnfsTer24	p.P78Qfs*24	ENST00000265990	NM_003972.2	78	Cca/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS7419.1	232	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGAATCCAGTG	NONE	.	.	hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	deletion	BTAF1,frameshift_variant,p.Pro78GlnfsTer24,ENST00000265990,;	540	156	245	SUCCESS
FFAR4	338557	.	GRCh37	10	95338925	95338931	+	frameshift_variant	Frame_Shift_Del	DEL	CACCTCC	CACCTCC	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	CACCTCC	CACCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	72	0	ENST00000371483.4:c.706_712del	p.His236TrpfsTer7	p.H236Wfs*7	ENST00000371483	NM_181745.3	236	CACCTCCtg/tg	0	.	.	.	.	.	-	HLL/X	protein_coding	YES	CCDS31248.1	706-712	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGGAACACCTCCTGGAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF67,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10	.	.	ENSP00000360538	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000371483	Transcript	1	.	ENSG00000186188	19061	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FFAR4_HUMAN	FFAR4	HGNC	.	.	UPI00001C1EE5	deletion	FFAR4,frameshift_variant,p.His236TrpfsTer7,ENST00000371483,;FFAR4,intron_variant,,ENST00000371481,;FFAR4,intron_variant,,ENST00000604414,;	762-768	72	81	SUCCESS
OPALIN	93377	.	GRCh37	10	98111161	98111161	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	432	193	556	0	ENST00000371172.3:c.46T>A	p.Ser16Thr	p.S16T	ENST00000371172	NM_033207.3	16	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS7448.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGAGGACG	NONE	.	.	hmmpanther:PTHR21102	.	.	ENSP00000360214	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000371172	Transcript	.	.	ENSG00000197430	20707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	tolerated_low_confidence(0.22)	.	OPALI_HUMAN	OPALIN	HGNC	.	.	UPI0000137063	SNV	OPALIN,missense_variant,p.Ser16Thr,ENST00000371172,;OPALIN,missense_variant,p.Ser6Thr,ENST00000419479,;OPALIN,missense_variant,p.Ser6Thr,ENST00000536387,;OPALIN,intron_variant,,ENST00000393871,;OPALIN,intron_variant,,ENST00000393870,;	452	557	626	SUCCESS
C10orf12	0	.	GRCh37	10	98741566	98741566	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	35	115	0	ENST00000286067.2:c.419A>T	p.Lys140Met	p.K140M	ENST00000286067	NM_015652.2	140	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS7452.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAAGACAG	NONE	.	.	hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2	.	.	ENSP00000286067	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286067	Transcript	.	.	ENSG00000155640	23420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CJ012_HUMAN	C10orf12	HGNC	.	.	UPI000006F242	SNV	C10orf12,missense_variant,p.Lys140Met,ENST00000286067,;LCOR,downstream_gene_variant,,ENST00000498444,;	526	115	137	SUCCESS
ZDHHC16	84287	.	GRCh37	10	99213301	99213301	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	66	0	ENST00000370854.3:c.571T>A	p.Cys191Ser	p.C191S	ENST00000370854	NM_032327.2	191	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS7460.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATTGTGTG	NONE	.	.	PROSITE_profiles:PS50216,hmmpanther:PTHR12246:SF11,hmmpanther:PTHR12246,Pfam_domain:PF01529	.	.	ENSP00000377357	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000393760	Transcript	.	.	ENSG00000171307	20714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZDH16_HUMAN	ZDHHC16	HGNC	B4DNL2_HUMAN,B1AMU5_HUMAN	.	UPI0000073C8D	SNV	ZDHHC16,missense_variant,p.Cys126Ser,ENST00000345745,;ZDHHC16,missense_variant,p.Cys133Ser,ENST00000417044,;ZDHHC16,missense_variant,p.Cys191Ser,ENST00000352634,;ZDHHC16,missense_variant,p.Cys126Ser,ENST00000433086,;ZDHHC16,missense_variant,p.Cys191Ser,ENST00000370842,;ZDHHC16,missense_variant,p.Cys191Ser,ENST00000370854,;ZDHHC16,missense_variant,p.Cys191Ser,ENST00000414567,;ZDHHC16,missense_variant,p.Cys191Ser,ENST00000393760,;ZDHHC16,missense_variant,p.Cys167Ser,ENST00000420089,;ZDHHC16,intron_variant,,ENST00000370846,;ZDHHC16,intron_variant,,ENST00000353979,;MMS19,downstream_gene_variant,,ENST00000370782,;MMS19,downstream_gene_variant,,ENST00000327238,;MMS19,downstream_gene_variant,,ENST00000438925,;MMS19,downstream_gene_variant,,ENST00000327277,;MMS19,downstream_gene_variant,,ENST00000355839,;MMS19,downstream_gene_variant,,ENST00000444411,;MMS19,downstream_gene_variant,,ENST00000434538,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000459777,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000495735,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000466895,;ZDHHC16,intron_variant,,ENST00000462924,;ZDHHC16,upstream_gene_variant,,ENST00000492733,;ZDHHC16,downstream_gene_variant,,ENST00000492610,;ZDHHC16,upstream_gene_variant,,ENST00000487315,;MMS19,downstream_gene_variant,,ENST00000415383,;MMS19,downstream_gene_variant,,ENST00000485400,;MMS19,downstream_gene_variant,,ENST00000495415,;	920	66	66	SUCCESS
MMP20	9313	.	GRCh37	11	102495988	102495988	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	95	0	ENST00000260228.2:c.63T>C	p.Thr21=	p.T21=	ENST00000260228	NM_004771.3	21	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS8318.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGTGGA	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF125,PIRSF_domain:PIRSF001191	.	.	ENSP00000260228	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000260228	Transcript	.	.	ENSG00000137674	7167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP20_HUMAN	MMP20	HGNC	.	.	UPI000013D0B3	SNV	MMP20,synonymous_variant,p.%3D,ENST00000260228,;RP11-817J15.2,intron_variant,,ENST00000542119,;	76	95	72	SUCCESS
LAYN	143903	.	GRCh37	11	111430883	111430883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	39	153	0	ENST00000375615.3:c.849G>T	p.Gln283His	p.Q283H	ENST00000375615	NM_001258390.1	283	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS58178.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAGGGAAA	NONE	.	.	hmmpanther:PTHR14789,hmmpanther:PTHR14789:SF2	.	.	ENSP00000364765	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000375615	Transcript	.	.	ENSG00000204381	29471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	LAYN_HUMAN	LAYN	HGNC	E9PQY8_HUMAN,E9PK64_HUMAN,B4DDS5_HUMAN	.	UPI0000048EB1	SNV	LAYN,missense_variant,p.Gln130His,ENST00000436913,;LAYN,missense_variant,p.Gln283His,ENST00000375615,;LAYN,missense_variant,p.Gln275His,ENST00000375614,;LAYN,3_prime_UTR_variant,,ENST00000525126,;LAYN,3_prime_UTR_variant,,ENST00000533265,;LAYN,downstream_gene_variant,,ENST00000533999,;LAYN,downstream_gene_variant,,ENST00000530962,;LAYN,downstream_gene_variant,,ENST00000528924,;LAYN,3_prime_UTR_variant,,ENST00000525866,;	1034	153	134	SUCCESS
CD44	960	.	GRCh37	11	35219675	35219675	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	30	108	0	ENST00000428726.2:c.804T>A	p.Ser268=	p.S268=	ENST00000428726	NM_000610.3	268	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS7897.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCTTCAAA	NONE	.	.	hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6	.	.	ENSP00000398632	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000428726	Transcript	.	.	ENSG00000026508	1681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD44_HUMAN	CD44	HGNC	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN	.	UPI000013D3FE	SNV	CD44,synonymous_variant,p.%3D,ENST00000449691,;CD44,synonymous_variant,p.%3D,ENST00000437706,;CD44,synonymous_variant,p.%3D,ENST00000415148,;CD44,synonymous_variant,p.%3D,ENST00000525685,;CD44,synonymous_variant,p.%3D,ENST00000533222,;CD44,synonymous_variant,p.%3D,ENST00000428726,;CD44,synonymous_variant,p.%3D,ENST00000525688,;CD44,synonymous_variant,p.%3D,ENST00000433354,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000525211,;CD44,intron_variant,,ENST00000442151,;CD44,intron_variant,,ENST00000278386,;CD44,intron_variant,,ENST00000263398,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000434472,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000531873,;CD44,intron_variant,,ENST00000526000,;CD44,intron_variant,,ENST00000531110,;CD44,intron_variant,,ENST00000528455,;CD44,intron_variant,,ENST00000433892,;CD44,intron_variant,,ENST00000524922,;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000527889,;CD44,upstream_gene_variant,,ENST00000528672,;CD44,upstream_gene_variant,,ENST00000526553,;CD44,non_coding_transcript_exon_variant,,ENST00000528922,;CD44,non_coding_transcript_exon_variant,,ENST00000525209,;CD44,intron_variant,,ENST00000528086,;CD44,non_coding_transcript_exon_variant,,ENST00000525348,;CD44,intron_variant,,ENST00000534296,;CD44,intron_variant,,ENST00000425428,;CD44,intron_variant,,ENST00000525241,;CD44,upstream_gene_variant,,ENST00000534082,;CD44,upstream_gene_variant,,ENST00000525293,;	927	108	108	SUCCESS
SIGIRR	59307	.	GRCh37	11	406282	406282	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	32	0	ENST00000332725.3:c.1069+67A>T		p.*357*	ENST00000332725	NM_001135053.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31325.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGTGCC	NONE	.	.	.	.	.	ENSP00000403104	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000431843	Transcript	.	.	ENSG00000185187	30575	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGIR_HUMAN	SIGIRR	HGNC	.	.	UPI000049DD22	SNV	SIGIRR,missense_variant,p.Gln379Leu,ENST00000382520,;SIGIRR,missense_variant,p.Gln379Leu,ENST00000531205,;SIGIRR,missense_variant,p.Gln30Leu,ENST00000528845,;SIGIRR,intron_variant,,ENST00000526395,;SIGIRR,intron_variant,,ENST00000397632,;SIGIRR,intron_variant,,ENST00000431843,;SIGIRR,intron_variant,,ENST00000332725,;SIGIRR,downstream_gene_variant,,ENST00000528058,;PKP3,downstream_gene_variant,,ENST00000525642,;SIGIRR,downstream_gene_variant,,ENST00000528209,;PKP3,downstream_gene_variant,,ENST00000331563,;SIGIRR,downstream_gene_variant,,ENST00000530494,;SIGIRR,downstream_gene_variant,,ENST00000530683,;SIGIRR,downstream_gene_variant,,ENST00000527136,;SIGIRR,downstream_gene_variant,,ENST00000528116,;SIGIRR,downstream_gene_variant,,ENST00000529486,;SIGIRR,downstream_gene_variant,,ENST00000525299,;SIGIRR,downstream_gene_variant,,ENST00000534217,;SIGIRR,downstream_gene_variant,,ENST00000528698,;SIGIRR,downstream_gene_variant,,ENST00000526788,;SIGIRR,intron_variant,,ENST00000527987,;SIGIRR,intron_variant,,ENST00000527295,;SIGIRR,downstream_gene_variant,,ENST00000528536,;SIGIRR,downstream_gene_variant,,ENST00000525070,;SIGIRR,downstream_gene_variant,,ENST00000534145,;	.	32	40	SUCCESS
DDB2	1643	.	GRCh37	11	47256218	47256218	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	34	135	0	ENST00000256996.4:c.697A>G	p.Lys233Glu	p.K233E	ENST00000256996	NM_000107.2	233	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7927.1	697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCAAAGAG	NONE	.	.	hmmpanther:PTHR15169:SF0,hmmpanther:PTHR15169,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000256996	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000256996	Transcript	.	.	ENSG00000134574	2718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.69)	.	DDB2_HUMAN	DDB2	HGNC	.	.	UPI000000D90C	SNV	DDB2,missense_variant,p.Lys233Glu,ENST00000378601,;DDB2,missense_variant,p.Lys169Glu,ENST00000378603,;DDB2,missense_variant,p.Lys233Glu,ENST00000256996,;DDB2,intron_variant,,ENST00000378600,;ACP2,downstream_gene_variant,,ENST00000256997,;ACP2,downstream_gene_variant,,ENST00000529444,;ACP2,downstream_gene_variant,,ENST00000534752,;ACP2,downstream_gene_variant,,ENST00000534448,;	892	135	126	SUCCESS
NUP160	23279	.	GRCh37	11	47823484	47823484	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs1249233039	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	95	0	ENST00000378460.2:c.2776-2A>G		p.X926_splice	ENST00000378460	NM_015231.1	926		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31484.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTGGAGA	NONE	.	.	.	.	.	ENSP00000367721	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378460	Transcript	.	.	ENSG00000030066	18017	.	.	HIGH	22/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU160_HUMAN	NUP160	HGNC	.	.	UPI0000185FEB	SNV	NUP160,splice_acceptor_variant,,ENST00000528071,;NUP160,splice_acceptor_variant,,ENST00000530326,;NUP160,splice_acceptor_variant,,ENST00000378460,;RNA5SP340,downstream_gene_variant,,ENST00000517132,;NUP160,downstream_gene_variant,,ENST00000527750,;NUP160,downstream_gene_variant,,ENST00000526569,;	.	95	101	SUCCESS
TRIM51	84767	.	GRCh37	11	55653597	55653597	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	103	299	0	ENST00000449290.2:c.412-2A>T		p.X138_splice	ENST00000449290	NM_032681.3	138		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCAGGAGG	NONE	.	.	.	.	.	ENSP00000395086	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,splice_acceptor_variant,,ENST00000449290,;TRIM51,5_prime_UTR_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	.	300	310	SUCCESS
AHNAK	79026	.	GRCh37	11	62290643	62290643	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	95	0	ENST00000378024.4:c.11246A>T	p.Asp3749Val	p.D3749V	ENST00000378024	NM_001620.2	3749	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS31584.1	11246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGTCAGGC	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Asp3749Val,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	11521	95	69	SUCCESS
MAP4K2	5871	.	GRCh37	11	64563810	64563810	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	94	0	ENST00000294066.2:c.1686G>T	p.Arg562=	p.R562=	ENST00000294066	NM_004579.3	562	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8082.1	1686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCGCTG	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,Pfam_domain:PF00780,PIRSF_domain:PIRSF038172,SMART_domains:SM00036	.	.	ENSP00000294066	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,synonymous_variant,p.%3D,ENST00000377350,;MAP4K2,synonymous_variant,p.%3D,ENST00000294066,;MAP4K2,downstream_gene_variant,,ENST00000439069,;MAP4K2,downstream_gene_variant,,ENST00000493428,;MAP4K2,downstream_gene_variant,,ENST00000468062,;MAP4K2,downstream_gene_variant,,ENST00000482314,;MAP4K2,synonymous_variant,p.%3D,ENST00000424945,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000489952,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000470088,;MAP4K2,downstream_gene_variant,,ENST00000467689,;	1778	94	93	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65349553	65349553	+	synonymous_variant	Silent	SNP	C	C	T	rs754393486	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	34	128	0	ENST00000309295.4:c.1410C>T	p.Thr470=	p.T470=	ENST00000309295	NM_001099409.1	470	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS44649.1	1410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCAGGGA	NONE	.	.	hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069	.	.	ENSP00000312671	.	9/19	.	.	.	.	.	.	.	.	rs754393486	9/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	SNV	EHBP1L1,synonymous_variant,p.%3D,ENST00000309295,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;	1675	128	147	SUCCESS
SPTBN2	6712	.	GRCh37	11	66466555	66466555	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	101	0	ENST00000309996.2:c.3777-2A>T		p.X1259_splice	ENST00000309996	NM_006946.2	1259		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCTGGAAC	NONE	.	.	.	.	.	ENSP00000432568	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	HIGH	18/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,splice_acceptor_variant,,ENST00000533211,;SPTBN2,splice_acceptor_variant,,ENST00000309996,;SPTBN2,splice_acceptor_variant,,ENST00000529997,;SPTBN2,upstream_gene_variant,,ENST00000530665,;	.	101	89	SUCCESS
FGF19	9965	.	GRCh37	11	69518447	69518447	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	42	0	ENST00000294312.3:c.198C>A	p.Gly66=	p.G66=	ENST00000294312	NM_005117.2	66	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8193.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGACGCCGTC	NONE	.	.	Superfamily_domains:SSF50353,SMART_domains:SM00442,PIRSF_domain:PIRSF037961,Pfam_domain:PF00167,Gene3D:2.80.10.50,hmmpanther:PTHR11486:SF74,hmmpanther:PTHR11486	.	.	ENSP00000294312	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000294312	Transcript	.	.	ENSG00000162344	3675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF19_HUMAN	FGF19	HGNC	.	.	UPI0000037216	SNV	FGF19,synonymous_variant,p.%3D,ENST00000294312,;	964	42	27	SUCCESS
PAK1	5058	.	GRCh37	11	77070041	77070041	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	56	0	ENST00000356341.3:c.499A>T	p.Thr167Ser	p.T167S	ENST00000356341	NM_002576.4	167	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS44687.1	499	RADIA|MUTECT|MUSE	.	AGGAGTCTCAG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250	.	.	ENSP00000278568	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000278568	Transcript	.	.	ENSG00000149269	8590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.64)	.	PAK1_HUMAN	PAK1	HGNC	E9PRP6_HUMAN,E9PQW5_HUMAN,E9PMP2_HUMAN,E9PM17_HUMAN,E9PKH9_HUMAN,E9PJF8_HUMAN	.	UPI000013DB7F	SNV	PAK1,missense_variant,p.Thr167Ser,ENST00000278568,;PAK1,missense_variant,p.Thr167Ser,ENST00000356341,;PAK1,missense_variant,p.Thr167Ser,ENST00000530617,;PAK1,missense_variant,p.Thr69Ser,ENST00000528203,;PAK1,upstream_gene_variant,,ENST00000525542,;PAK1,missense_variant,p.Thr58Ser,ENST00000527457,;PAK1,non_coding_transcript_exon_variant,,ENST00000533568,;PAK1,non_coding_transcript_exon_variant,,ENST00000533468,;PAK1,upstream_gene_variant,,ENST00000526103,;PAK1,upstream_gene_variant,,ENST00000530358,;	1029	56	46	SUCCESS
PAK1	5058	.	GRCh37	11	77070043	77070043	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	56	0	ENST00000356341.3:c.497A>T	p.Glu166Val	p.E166V	ENST00000356341	NM_002576.4	166	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS44687.1	497	RADIA|MUTECT|MUSE	.	GAGTCTCAGAC	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250	.	.	ENSP00000278568	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000278568	Transcript	.	.	ENSG00000149269	8590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.848)	.	tolerated(0.09)	.	PAK1_HUMAN	PAK1	HGNC	E9PRP6_HUMAN,E9PQW5_HUMAN,E9PMP2_HUMAN,E9PM17_HUMAN,E9PKH9_HUMAN,E9PJF8_HUMAN	.	UPI000013DB7F	SNV	PAK1,missense_variant,p.Glu166Val,ENST00000278568,;PAK1,missense_variant,p.Glu166Val,ENST00000356341,;PAK1,missense_variant,p.Glu166Val,ENST00000530617,;PAK1,missense_variant,p.Glu68Val,ENST00000528203,;PAK1,upstream_gene_variant,,ENST00000525542,;PAK1,missense_variant,p.Glu57Val,ENST00000527457,;PAK1,non_coding_transcript_exon_variant,,ENST00000533568,;PAK1,non_coding_transcript_exon_variant,,ENST00000533468,;PAK1,upstream_gene_variant,,ENST00000526103,;PAK1,upstream_gene_variant,,ENST00000530358,;	1027	56	43	SUCCESS
TRIM66	9866	.	GRCh37	11	8662353	8662353	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	61	0	ENST00000299550.6:c.1134T>C	p.His378=	p.H378=	ENST00000299550	NM_014818.1	378	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	.	1128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGATGAGG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121	.	.	ENSP00000384876	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,synonymous_variant,p.%3D,ENST00000402157,;TRIM66,synonymous_variant,p.%3D,ENST00000299550,;TRIM66,downstream_gene_variant,,ENST00000529057,;TRIM66,downstream_gene_variant,,ENST00000531498,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	1569	61	68	SUCCESS
FAT3	120114	.	GRCh37	11	92600067	92600067	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	67	0	ENST00000298047.6:c.11819G>A	p.Arg3940Gln	p.R3940Q	ENST00000298047		3940	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	.	11819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGGCGCC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00282,Pfam_domain:PF02210,Gene3D:2.60.120.200,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50025	.	.	ENSP00000298047	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Arg275Gln,ENST00000533797,;FAT3,missense_variant,p.Arg3940Gln,ENST00000298047,;FAT3,missense_variant,p.Arg3940Gln,ENST00000409404,;FAT3,missense_variant,p.Arg3790Gln,ENST00000525166,;	11836	67	54	SUCCESS
ERC1	23085	.	GRCh37	12	1137264	1137264	+	synonymous_variant	Silent	SNP	C	C	T	rs745971025	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	67	0	ENST00000360905.4:c.195C>T	p.Ala65=	p.A65=	ENST00000360905		65	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8508.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCTATGC	NONE	byFrequency	.	hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1	.	.	ENSP00000380386	.	2/19	.	.	.	.	.	.	.	.	rs745971025	2/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,synonymous_variant,p.%3D,ENST00000589132,;ERC1,synonymous_variant,p.%3D,ENST00000546231,;ERC1,synonymous_variant,p.%3D,ENST00000360905,;ERC1,synonymous_variant,p.%3D,ENST00000589028,;ERC1,synonymous_variant,p.%3D,ENST00000397203,;ERC1,synonymous_variant,p.%3D,ENST00000545318,;ERC1,synonymous_variant,p.%3D,ENST00000543086,;ERC1,synonymous_variant,p.%3D,ENST00000355446,;ERC1,intron_variant,,ENST00000592048,;ERC1,downstream_gene_variant,,ENST00000587595,;ERC1,synonymous_variant,p.%3D,ENST00000545948,;ERC1,synonymous_variant,p.%3D,ENST00000542302,;ERC1,synonymous_variant,p.%3D,ENST00000440394,;ERC1,synonymous_variant,p.%3D,ENST00000347735,;	601	67	78	SUCCESS
NOS1	4842	.	GRCh37	12	117657990	117657990	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	46	0	ENST00000317775.6:c.4060T>A	p.Cys1354Ser	p.C1354S	ENST00000317775	NM_000620.4	1354	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS55890.1	4162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGACGT	NONE	.	.	Prints_domain:PR00371,Superfamily_domains:SSF52343,PIRSF_domain:PIRSF000333,Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Cys1354Ser,ENST00000317775,;NOS1,missense_variant,p.Cys1388Ser,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	4167	46	39	SUCCESS
ANAPC5	51433	.	GRCh37	12	121790260	121790260	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs544389213	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	26	0	ENST00000261819.3:c.-117T>A		p.*39*	ENST00000261819	NM_016237.4			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS9220.1	.	MUTECT|MUSE	.	CAGACATCCGC	NONE	by1000G	.	.	T:0	.	ENSP00000261819	T:0	1/17	.	.	.	.	.	.	.	.	rs544389213	1/17	PASS	ENST00000261819	Transcript	.	T:0.0002	ENSG00000089053	15713	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	APC5_HUMAN	ANAPC5	HGNC	Q49A41_HUMAN,F5GZ05_HUMAN,F5GY68_HUMAN,B4DFK4_HUMAN	.	UPI000006DF80	SNV	ANAPC5,5_prime_UTR_variant,,ENST00000261819,;ANAPC5,intron_variant,,ENST00000536837,;ANAPC5,upstream_gene_variant,,ENST00000541887,;ANAPC5,upstream_gene_variant,,ENST00000544442,;ANAPC5,upstream_gene_variant,,ENST00000441917,;ANAPC5,upstream_gene_variant,,ENST00000539871,;ANAPC5,upstream_gene_variant,,ENST00000536416,;ANAPC5,upstream_gene_variant,,ENST00000534976,;ANAPC5,upstream_gene_variant,,ENST00000545801,;ANAPC5,upstream_gene_variant,,ENST00000541652,;	6	26	34	SUCCESS
DBX2	440097	.	GRCh37	12	45417596	45417596	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	76	0	ENST00000332700.6:c.581C>T	p.Ser194Phe	p.S194F	ENST00000332700	NM_001004329.2	194	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS31781.1	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGAAAAG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000331470	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000332700	Transcript	.	.	ENSG00000185610	33186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DBX2_HUMAN	DBX2	HGNC	.	.	UPI000041A784	SNV	DBX2,missense_variant,p.Ser194Phe,ENST00000332700,;	753	76	64	SUCCESS
TENC1	0	.	GRCh37	12	53454679	53454679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	84	0	ENST00000314250.6:c.2989G>T	p.Asp997Tyr	p.D997Y	ENST00000314250	NM_170754.2	997	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8842.1	3019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAGATGGC	NONE	.	.	hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21	.	.	ENSP00000319756	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000314276	Transcript	.	.	ENSG00000111077	19737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	deleterious(0.02)	.	TENC1_HUMAN	TENC1	HGNC	.	.	UPI000013F790	SNV	TENC1,missense_variant,p.Asp873Tyr,ENST00000379902,;TENC1,missense_variant,p.Asp900Tyr,ENST00000546602,;TENC1,missense_variant,p.Asp932Tyr,ENST00000549700,;TENC1,missense_variant,p.Asp1007Tyr,ENST00000314276,;TENC1,missense_variant,p.Asp987Tyr,ENST00000451358,;TENC1,missense_variant,p.Asp997Tyr,ENST00000314250,;TENC1,missense_variant,p.Asp997Tyr,ENST00000552570,;TENC1,downstream_gene_variant,,ENST00000602335,;SPRYD3,downstream_gene_variant,,ENST00000547837,;SPRYD3,downstream_gene_variant,,ENST00000301463,;TENC1,3_prime_UTR_variant,,ENST00000546772,;TENC1,non_coding_transcript_exon_variant,,ENST00000551583,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;TENC1,upstream_gene_variant,,ENST00000550660,;TENC1,downstream_gene_variant,,ENST00000549789,;TENC1,upstream_gene_variant,,ENST00000550048,;TENC1,upstream_gene_variant,,ENST00000552168,;SPRYD3,downstream_gene_variant,,ENST00000547257,;TENC1,downstream_gene_variant,,ENST00000547223,;TENC1,downstream_gene_variant,,ENST00000546759,;TENC1,downstream_gene_variant,,ENST00000549498,;	3214	84	99	SUCCESS
SPRYD3	84926	.	GRCh37	12	53460128	53460128	+	synonymous_variant	Silent	SNP	T	T	A	rs778052180	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	77	0	ENST00000301463.4:c.1164A>T	p.Ile388=	p.I388=	ENST00000301463	NM_032840.2	388	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS8845.1	1164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTATCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,SMART_domains:SM00449	.	.	ENSP00000301463	.	10/11	.	.	.	.	.	.	.	.	rs778052180	10/11	PASS	ENST00000301463	Transcript	.	.	ENSG00000167778	25920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPRY3_HUMAN	SPRYD3	HGNC	.	.	UPI0000038D00	SNV	SPRYD3,synonymous_variant,p.%3D,ENST00000301463,;SPRYD3,synonymous_variant,p.%3D,ENST00000547837,;TENC1,downstream_gene_variant,,ENST00000379902,;TENC1,downstream_gene_variant,,ENST00000546602,;TENC1,downstream_gene_variant,,ENST00000549700,;TENC1,downstream_gene_variant,,ENST00000314276,;TENC1,downstream_gene_variant,,ENST00000451358,;TENC1,downstream_gene_variant,,ENST00000314250,;TENC1,downstream_gene_variant,,ENST00000552570,;SPRYD3,synonymous_variant,p.%3D,ENST00000547257,;SPRYD3,downstream_gene_variant,,ENST00000550564,;TENC1,downstream_gene_variant,,ENST00000550660,;SPRYD3,downstream_gene_variant,,ENST00000537540,;TENC1,downstream_gene_variant,,ENST00000552168,;TENC1,downstream_gene_variant,,ENST00000550048,;TENC1,downstream_gene_variant,,ENST00000546772,;TENC1,downstream_gene_variant,,ENST00000549311,;	1251	77	89	SUCCESS
RARG	5916	.	GRCh37	12	53608001	53608001	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	85	0	ENST00000425354.2:c.655C>T	p.Arg219Cys	p.R219C	ENST00000425354	NM_000966.5	219	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8850.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCGGTGGT	NONE	.	.	hmmpanther:PTHR24082:SF116,hmmpanther:PTHR24082,Gene3D:1.10.565.10,Superfamily_domains:SSF48508,Prints_domain:PR01292	.	.	ENSP00000388510	.	7/10	.	.	.	.	.	.	.	.	COSM191143	7/10	PASS	ENST00000425354	Transcript	.	.	ENSG00000172819	9866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	RARG_HUMAN	RARG	HGNC	H3BMY6_HUMAN,H3BMK1_HUMAN,A8K3H3_HUMAN	.	UPI000000105D	SNV	RARG,missense_variant,p.Arg219Cys,ENST00000425354,;RARG,missense_variant,p.Arg147Cys,ENST00000327550,;RARG,missense_variant,p.Arg219Cys,ENST00000394426,;RARG,missense_variant,p.Arg197Cys,ENST00000543726,;RARG,missense_variant,p.Arg208Cys,ENST00000338561,;RARG,non_coding_transcript_exon_variant,,ENST00000543762,;RARG,non_coding_transcript_exon_variant,,ENST00000550265,;RARG,non_coding_transcript_exon_variant,,ENST00000548317,;RARG,non_coding_transcript_exon_variant,,ENST00000551580,;RARG,downstream_gene_variant,,ENST00000548284,;	1143	85	78	SUCCESS
CALCOCO1	57658	.	GRCh37	12	54105826	54105826	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	42	161	0	ENST00000550804.1:c.1978A>T	p.Lys660Ter	p.K660*	ENST00000550804		660	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS8864.1	1978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTACAGA	NONE	.	.	hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF5	.	.	ENSP00000449960	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000550804	Transcript	.	.	ENSG00000012822	29306	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CACO1_HUMAN	CALCOCO1	HGNC	F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN	.	UPI0000037D7A	SNV	CALCOCO1,stop_gained,p.Lys659Ter,ENST00000262059,;CALCOCO1,stop_gained,p.Lys575Ter,ENST00000430117,;CALCOCO1,stop_gained,p.Lys201Ter,ENST00000546443,;CALCOCO1,stop_gained,p.Lys660Ter,ENST00000550804,;CALCOCO1,3_prime_UTR_variant,,ENST00000548263,;CALCOCO1,downstream_gene_variant,,ENST00000549935,;CALCOCO1,downstream_gene_variant,,ENST00000552282,;CALCOCO1,downstream_gene_variant,,ENST00000549613,;	2039	161	150	SUCCESS
LRP1	4035	.	GRCh37	12	57522542	57522542	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	20	0	ENST00000243077.3:c.-206G>A		p.*69*	ENST00000243077	NM_002332.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8932.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGCACCC	NONE	.	.	.	.	.	ENSP00000243077	.	1/89	.	.	.	.	.	.	.	.	.	1/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,5_prime_UTR_variant,,ENST00000338962,;LRP1,5_prime_UTR_variant,,ENST00000243077,;LRP1,5_prime_UTR_variant,,ENST00000553277,;STAT6,intron_variant,,ENST00000553499,;STAT6,intron_variant,,ENST00000556155,;LRP1,upstream_gene_variant,,ENST00000554174,;	261	20	25	SUCCESS
LRP1	4035	.	GRCh37	12	57589063	57589063	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1411682069	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	49	0	ENST00000243077.3:c.8318C>T	p.Thr2773Met	p.T2773M	ENST00000243077	NM_002332.2	2773	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS8932.1	8318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGACGTGCG	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	52/89	.	.	.	.	.	.	.	.	.	52/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Thr2773Met,ENST00000243077,;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,downstream_gene_variant,,ENST00000408438,;LRP1,upstream_gene_variant,,ENST00000555941,;	8784	49	47	SUCCESS
ARHGAP9	64333	.	GRCh37	12	57873560	57873560	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	57	191	0	ENST00000393791.3:c.-66T>A		p.*22*	ENST00000393791	NM_032496.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8941.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTAGTGGT	NONE	.	.	.	.	.	ENSP00000377380	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000393791	Transcript	.	.	ENSG00000123329	14130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG09_HUMAN	ARHGAP9	HGNC	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN	.	UPI000007131B	SNV	ARHGAP9,missense_variant,p.Tyr58Asn,ENST00000550288,;ARHGAP9,missense_variant,p.Tyr50Asn,ENST00000393797,;ARHGAP9,5_prime_UTR_variant,,ENST00000356411,;ARHGAP9,5_prime_UTR_variant,,ENST00000552249,;ARHGAP9,5_prime_UTR_variant,,ENST00000393791,;ARHGAP9,upstream_gene_variant,,ENST00000552604,;ARHGAP9,upstream_gene_variant,,ENST00000430041,;ARHGAP9,upstream_gene_variant,,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,upstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000548139,;ARHGAP9,upstream_gene_variant,,ENST00000552066,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;ARHGAP9,upstream_gene_variant,,ENST00000424809,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,upstream_gene_variant,,ENST00000550454,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,upstream_gene_variant,,ENST00000551000,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000546200,;ARHGAP9,upstream_gene_variant,,ENST00000551574,;ARHGAP9,upstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000548148,;	74	191	179	SUCCESS
GJA3	2700	.	GRCh37	13	20717035	20717035	+	synonymous_variant	Silent	SNP	C	C	T	rs749070481	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	71	1	ENST00000241125.3:c.393G>A	p.Ser131=	p.S131=	ENST00000241125	NM_021954.3	131	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9289.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGACGAGGG	NONE	byFrequency	.	Gene3D:2zw3A00,hmmpanther:PTHR11984:SF12,hmmpanther:PTHR11984	.	.	ENSP00000241125	.	2/2	.	.	.	.	.	.	.	.	rs749070481	2/2	PASS	ENST00000241125	Transcript	.	.	ENSG00000121743	4277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA3_HUMAN	GJA3	HGNC	.	.	UPI0000052BDE	SNV	GJA3,synonymous_variant,p.%3D,ENST00000241125,;	570	72	65	SUCCESS
SACS	26278	.	GRCh37	13	23929324	23929324	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	60	0	ENST00000382292.3:c.1427G>A	p.Ser476Asn	p.S476N	ENST00000382292		476	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS9300.2	1427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGCTCCTG	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Ser476Asn,ENST00000382292,;SACS,missense_variant,p.Ser376Asn,ENST00000455470,;SACS,missense_variant,p.Ser476Asn,ENST00000382298,;SACS,missense_variant,p.Ser100Asn,ENST00000423156,;SACS,5_prime_UTR_variant,,ENST00000402364,;SACS,upstream_gene_variant,,ENST00000476776,;	2016	60	51	SUCCESS
PDS5B	23047	.	GRCh37	13	33333788	33333788	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	25	96	0	ENST00000315596.10:c.3332A>G	p.Tyr1111Cys	p.Y1111C	ENST00000315596	NM_015032.3	1111	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS41878.1	3332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTATCTGC	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1	.	.	ENSP00000313851	.	29/35	.	.	.	.	.	.	.	.	.	29/35	PASS	ENST00000315596	Transcript	.	.	ENSG00000083642	20418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,missense_variant,p.Tyr65Cys,ENST00000447833,;PDS5B,missense_variant,p.Tyr1111Cys,ENST00000315596,;RNY1P4,downstream_gene_variant,,ENST00000384595,;PDS5B,missense_variant,p.Tyr1111Cys,ENST00000450460,;	3518	96	94	SUCCESS
MYCBP2	23077	.	GRCh37	13	77672195	77672195	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	27	62	0	ENST00000357337.6:c.8980A>T	p.Arg2994Ter	p.R2994*	ENST00000357337		2994	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	.	8980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGGCAC	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	56/83	.	.	.	.	.	.	.	.	.	56/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,stop_gained,p.Arg2994Ter,ENST00000544440,;MYCBP2,stop_gained,p.Arg2994Ter,ENST00000357337,;MYCBP2,stop_gained,p.Arg3032Ter,ENST00000407578,;MYCBP2,downstream_gene_variant,,ENST00000360084,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000593933,;MYCBP2,downstream_gene_variant,,ENST00000498073,;MYCBP2,upstream_gene_variant,,ENST00000485061,;MYCBP2,downstream_gene_variant,,ENST00000462987,;MYCBP2,downstream_gene_variant,,ENST00000482517,;	8998	62	106	SUCCESS
TGDS	23483	.	GRCh37	13	95248495	95248495	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	28	0	ENST00000261296.5:c.-105T>A		p.*35*	ENST00000261296	NM_014305.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9471.1	.	MUTECT|MUSE	.	CGTTAACAGAG	NONE	.	.	.	.	.	ENSP00000261296	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000261296	Transcript	.	.	ENSG00000088451	20324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TGDS_HUMAN	TGDS	HGNC	Q2TU31_HUMAN	.	UPI000006E8F4	SNV	TGDS,5_prime_UTR_variant,,ENST00000261296,;TGDS,non_coding_transcript_exon_variant,,ENST00000498294,;	17	28	40	SUCCESS
TECPR2	9895	.	GRCh37	14	102898383	102898383	+	synonymous_variant	Silent	SNP	C	C	T	rs778115838	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	84	0	ENST00000359520.7:c.1335C>T	p.Asn445=	p.N445=	ENST00000359520	NM_014844.3	445	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS32162.1	1335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACGCCAT	NONE	byFrequency	.	hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287	.	.	ENSP00000352510	.	8/20	.	.	.	.	.	.	.	.	rs778115838	8/20	PASS	ENST00000359520	Transcript	1	.	ENSG00000196663	19957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPR2_HUMAN	TECPR2	HGNC	.	.	UPI00001FDC38	SNV	TECPR2,synonymous_variant,p.%3D,ENST00000359520,;TECPR2,synonymous_variant,p.%3D,ENST00000558678,;TECPR2,upstream_gene_variant,,ENST00000560060,;	1561	84	74	SUCCESS
NFKBIA	4792	.	GRCh37	14	35873919	35873919	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	21	0	ENST00000216797.5:c.-69C>T		p.*23*	ENST00000216797	NM_020529.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9656.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGGGCGC	NONE	.	.	.	.	.	ENSP00000216797	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000216797	Transcript	.	.	ENSG00000100906	7797	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKBA_HUMAN	NFKBIA	HGNC	Q9UGJ5_HUMAN,G3V286_HUMAN	.	UPI000004F0A9	SNV	NFKBIA,5_prime_UTR_variant,,ENST00000216797,;NFKBIA,5_prime_UTR_variant,,ENST00000557140,;NFKBIA,upstream_gene_variant,,ENST00000553342,;NFKBIA,upstream_gene_variant,,ENST00000557389,;NFKBIA,upstream_gene_variant,,ENST00000557100,;NFKBIA,5_prime_UTR_variant,,ENST00000554001,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557459,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000555629,;NFKBIA,upstream_gene_variant,,ENST00000555371,;NFKBIA,upstream_gene_variant,,ENST00000556664,;	34	21	15	SUCCESS
FANCM	57697	.	GRCh37	14	45645056	45645056	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	44	149	0	ENST00000267430.5:c.3099A>G	p.Lys1033=	p.K1033=	ENST00000267430	NM_020937.2	1033	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS32070.1	3099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAATGCAC	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,synonymous_variant,p.%3D,ENST00000542564,;FANCM,synonymous_variant,p.%3D,ENST00000556250,;FANCM,synonymous_variant,p.%3D,ENST00000267430,;FANCM,upstream_gene_variant,,ENST00000554809,;FANCM,upstream_gene_variant,,ENST00000555013,;	3184	149	140	SUCCESS
COQ6	51004	.	GRCh37	14	74417192	74417192	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs879576557	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	72	0	ENST00000334571.2:c.157G>A	p.Ala53Thr	p.A53T	ENST00000334571	NM_182476.2	53	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS9823.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGCCTTG	NONE	.	.	hmmpanther:PTHR13789:SF5,hmmpanther:PTHR13789,TIGRFAM_domain:TIGR01988,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01989,Superfamily_domains:SSF51905,Prints_domain:PR00420	.	.	ENSP00000333946	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000334571	Transcript	.	.	ENSG00000119723	20233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.743)	.	tolerated(0.1)	.	COQ6_HUMAN	COQ6	HGNC	G3V2W8_HUMAN	.	UPI0000127F00	SNV	COQ6,missense_variant,p.Ala53Thr,ENST00000334571,;COQ6,missense_variant,p.Ala53Thr,ENST00000554920,;COQ6,intron_variant,,ENST00000238709,;COQ6,intron_variant,,ENST00000394026,;COQ6,upstream_gene_variant,,ENST00000554320,;FAM161B,upstream_gene_variant,,ENST00000286544,;FAM161B,upstream_gene_variant,,ENST00000534936,;COQ6,non_coding_transcript_exon_variant,,ENST00000555552,;COQ6,missense_variant,p.Ala53Thr,ENST00000554153,;COQ6,missense_variant,p.Ala53Thr,ENST00000557584,;COQ6,non_coding_transcript_exon_variant,,ENST00000554217,;COQ6,non_coding_transcript_exon_variant,,ENST00000556300,;COQ6,non_coding_transcript_exon_variant,,ENST00000557205,;COQ6,non_coding_transcript_exon_variant,,ENST00000554193,;COQ6,non_coding_transcript_exon_variant,,ENST00000553922,;COQ6,intron_variant,,ENST00000554341,;COQ6,intron_variant,,ENST00000553462,;COQ6,upstream_gene_variant,,ENST00000555392,;COQ6,upstream_gene_variant,,ENST00000555511,;COQ6,upstream_gene_variant,,ENST00000555196,;	197	72	87	SUCCESS
PROX2	283571	.	GRCh37	14	75329266	75329266	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	45	0	ENST00000556489.2:c.1272T>A	p.Ala424=	p.A424=	ENST00000556489	NM_001243007.1	424	gcT/gcA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45136.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAGCATG	NONE	.	.	.	.	.	ENSP00000451463	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000556084	Transcript	.	.	ENSG00000119608	26715	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROX2_HUMAN	PROX2	HGNC	.	.	UPI00002522F9	SNV	PROX2,synonymous_variant,p.%3D,ENST00000445876,;PROX2,synonymous_variant,p.%3D,ENST00000556489,;PROX2,intron_variant,,ENST00000556084,;	.	45	57	SUCCESS
RPS6KA5	9252	.	GRCh37	14	91340125	91340125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	38	0	ENST00000261991.3:c.2011G>T	p.Asp671Tyr	p.D671Y	ENST00000261991	NM_004755.2	671	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9893.1	2011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCTACTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF42,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000261991	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000261991	Transcript	.	.	ENSG00000100784	10434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	KS6A5_HUMAN	RPS6KA5	HGNC	Q9UG98_HUMAN,B7Z2Y5_HUMAN	.	UPI0000031C30	SNV	RPS6KA5,missense_variant,p.Asp671Tyr,ENST00000261991,;RPS6KA5,missense_variant,p.Asp592Tyr,ENST00000536315,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;	2185	38	57	SUCCESS
DICER1	23405	.	GRCh37	14	95590842	95590842	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	39	137	0	ENST00000343455.3:c.1067A>T	p.His356Leu	p.H356L	ENST00000343455	NM_177438.2	356	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS9931.1	1067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATGTATT	NONE	.	.	hmmpanther:PTHR14950:SF3,hmmpanther:PTHR14950	.	.	ENSP00000437256	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000526495	Transcript	1	.	ENSG00000100697	17098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.11)	.	DICER_HUMAN	DICER1	HGNC	Q5D0K5_HUMAN,B3KMJ0_HUMAN	.	UPI0000168662	SNV	DICER1,missense_variant,p.His356Leu,ENST00000343455,;DICER1,missense_variant,p.His356Leu,ENST00000526495,;DICER1,missense_variant,p.His356Leu,ENST00000541352,;DICER1,missense_variant,p.His356Leu,ENST00000393063,;DICER1,missense_variant,p.His356Leu,ENST00000527414,;DICER1,upstream_gene_variant,,ENST00000532458,;DICER1,downstream_gene_variant,,ENST00000529206,;	1359	137	137	SUCCESS
NPAP1	23742	.	GRCh37	15	24921184	24921184	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1289511015	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	36	125	0	ENST00000329468.2:c.170G>A	p.Arg57His	p.R57H	ENST00000329468	NM_018958.2	57	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10015.1	170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCGCAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	COSM959919	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.715)	.	tolerated(0.08)	1	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Arg57His,ENST00000329468,;	644	125	124	SUCCESS
NUTM1	256646	.	GRCh37	15	34646775	34646775	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	53	134	0	ENST00000333756.4:c.1120A>T	p.Ile374Phe	p.I374F	ENST00000333756	NM_175741.1	374	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS32190.1	1120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACATCATG	NONE	.	.	hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12882	.	.	ENSP00000329448	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000333756	Transcript	.	.	ENSG00000184507	29919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NUTM1_HUMAN	NUTM1	HGNC	.	.	UPI000016159A	SNV	NUTM1,missense_variant,p.Ile402Phe,ENST00000537011,;NUTM1,missense_variant,p.Ile374Phe,ENST00000333756,;NUTM1,missense_variant,p.Ile392Phe,ENST00000438749,;LPCAT4,downstream_gene_variant,,ENST00000314891,;LPCAT4,downstream_gene_variant,,ENST00000567507,;LPCAT4,downstream_gene_variant,,ENST00000563748,;	1275	134	167	SUCCESS
LTK	4058	.	GRCh37	15	41804112	41804112	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	70	0	ENST00000263800.6:c.560A>T	p.Glu187Val	p.E187V	ENST00000263800	NM_002344.5	187	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS10077.1	560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCAACG	NONE	.	.	hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416,Pfam_domain:PF12810	.	.	ENSP00000263800	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000263800	Transcript	.	.	ENSG00000062524	6721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious_low_confidence(0.01)	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,missense_variant,p.Glu187Val,ENST00000263800,;LTK,missense_variant,p.Glu187Val,ENST00000453182,;LTK,missense_variant,p.Glu187Val,ENST00000355166,;LTK,intron_variant,,ENST00000561619,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,upstream_gene_variant,,ENST00000569283,;	657	70	73	SUCCESS
ELL3	80237	.	GRCh37	15	44069147	44069147	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs746527596	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	15	0	ENST00000319359.3:c.-48T>A		p.*16*	ENST00000319359	NM_025165.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10102.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACCACC	NONE	.	.	.	.	.	ENSP00000320346	.	1/11	.	.	.	.	.	.	.	.	rs746527596	1/11	PASS	ENST00000319359	Transcript	.	.	ENSG00000128886	23113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELL3_HUMAN	ELL3	HGNC	.	.	UPI0000073384	SNV	ELL3,missense_variant,p.Trp15Arg,ENST00000433927,;ELL3,5_prime_UTR_variant,,ENST00000319359,;SERF2,upstream_gene_variant,,ENST00000381359,;PDIA3,downstream_gene_variant,,ENST00000300289,;ELL3,upstream_gene_variant,,ENST00000497465,;ELL3,upstream_gene_variant,,ENST00000497530,;SERF2,upstream_gene_variant,,ENST00000474290,;ELL3,upstream_gene_variant,,ENST00000476335,;ELL3,non_coding_transcript_exon_variant,,ENST00000497700,;ELL3,non_coding_transcript_exon_variant,,ENST00000486851,;RP11-296A16.1,intron_variant,,ENST00000417761,;ELL3,upstream_gene_variant,,ENST00000467869,;	595	15	20	SUCCESS
DUOX1	53905	.	GRCh37	15	45426494	45426494	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	45	128	0	ENST00000321429.4:c.294G>A	p.Leu98=	p.L98=	ENST00000321429	NM_017434.3	98	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32221.1	294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTGGGGGT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000317997	.	5/35	.	.	.	.	.	.	.	.	.	5/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,synonymous_variant,p.%3D,ENST00000321429,;DUOX1,synonymous_variant,p.%3D,ENST00000389037,;DUOX1,downstream_gene_variant,,ENST00000558322,;DUOXA1,upstream_gene_variant,,ENST00000267803,;DUOX1,upstream_gene_variant,,ENST00000561166,;DUOXA1,upstream_gene_variant,,ENST00000558326,;DUOXA1,upstream_gene_variant,,ENST00000558851,;DUOXA1,upstream_gene_variant,,ENST00000558422,;DUOXA1,upstream_gene_variant,,ENST00000559014,;DUOXA1,upstream_gene_variant,,ENST00000558377,;DUOXA1,upstream_gene_variant,,ENST00000558996,;DUOXA1,upstream_gene_variant,,ENST00000559644,;DUOXA1,upstream_gene_variant,,ENST00000559226,;DUOXA1,upstream_gene_variant,,ENST00000559988,;DUOXA1,upstream_gene_variant,,ENST00000558976,;DUOXA1,upstream_gene_variant,,ENST00000559407,;DUOX1,synonymous_variant,p.%3D,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000558991,;	701	128	128	SUCCESS
SHF	90525	.	GRCh37	15	45464471	45464471	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	60	0	ENST00000290894.8:c.839A>G	p.Glu280Gly	p.E280G	ENST00000290894	NM_138356.2	280	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS10120.2	839	RADIA|MUTECT|MUSE	.	TCTCCTCCCGG	NONE	.	.	hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF30	.	.	ENSP00000290894	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000290894	Transcript	.	.	ENSG00000138606	25116	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.967)	.	tolerated(0.12)	.	SHF_HUMAN	SHF	HGNC	H0YNF2_HUMAN	.	UPI00001402D9	SNV	SHF,missense_variant,p.Glu117Gly,ENST00000559566,;SHF,missense_variant,p.Glu290Gly,ENST00000318390,;SHF,missense_variant,p.Glu44Gly,ENST00000561239,;SHF,missense_variant,p.Glu80Gly,ENST00000558685,;SHF,missense_variant,p.Glu298Gly,ENST00000560540,;SHF,missense_variant,p.Glu96Gly,ENST00000458022,;SHF,missense_variant,p.Glu280Gly,ENST00000290894,;SHF,missense_variant,p.Glu345Gly,ENST00000560471,;SHF,intron_variant,,ENST00000558294,;SHF,intron_variant,,ENST00000560734,;SHF,downstream_gene_variant,,ENST00000561278,;CTD-2651B20.1,upstream_gene_variant,,ENST00000558039,;RP11-519G16.2,intron_variant,,ENST00000560034,;SHF,downstream_gene_variant,,ENST00000561091,;	1334	60	52	SUCCESS
SHF	90525	.	GRCh37	15	45464477	45464477	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	55	0	ENST00000290894.8:c.833G>C	p.Gly278Ala	p.G278A	ENST00000290894	NM_138356.2	278	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS10120.2	833	RADIA|MUTECT|MUSE	.	CCCGGCCAGGT	NONE	.	.	hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF30	.	.	ENSP00000290894	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000290894	Transcript	.	.	ENSG00000138606	25116	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.114)	.	tolerated(0.26)	.	SHF_HUMAN	SHF	HGNC	H0YNF2_HUMAN	.	UPI00001402D9	SNV	SHF,missense_variant,p.Gly115Ala,ENST00000559566,;SHF,missense_variant,p.Gly288Ala,ENST00000318390,;SHF,missense_variant,p.Gly42Ala,ENST00000561239,;SHF,missense_variant,p.Gly78Ala,ENST00000558685,;SHF,missense_variant,p.Gly296Ala,ENST00000560540,;SHF,missense_variant,p.Gly94Ala,ENST00000458022,;SHF,missense_variant,p.Gly278Ala,ENST00000290894,;SHF,missense_variant,p.Gly343Ala,ENST00000560471,;SHF,intron_variant,,ENST00000558294,;SHF,intron_variant,,ENST00000560734,;SHF,downstream_gene_variant,,ENST00000561278,;CTD-2651B20.1,upstream_gene_variant,,ENST00000558039,;RP11-519G16.2,intron_variant,,ENST00000560034,;SHF,downstream_gene_variant,,ENST00000561091,;	1328	55	48	SUCCESS
TLN2	83660	.	GRCh37	15	63089561	63089561	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	36	104	0	ENST00000306829.6:c.6194T>A	p.Leu2065Gln	p.L2065Q	ENST00000306829	NM_015059.2	2065	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS32261.1	6194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTGGGGG	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1.20.1440.10,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	47/58	.	.	.	.	.	.	.	.	.	47/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.34)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Leu979Gln,ENST00000494733,;TLN2,missense_variant,p.Leu2065Gln,ENST00000561311,;TLN2,missense_variant,p.Leu2065Gln,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;	6424	104	115	SUCCESS
PIF1	80119	.	GRCh37	15	65113605	65113605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	36	182	0	ENST00000268043.4:c.932T>A	p.Val311Glu	p.V311E	ENST00000268043		311	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS10195.2	932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCACCATT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF05970,hmmpanther:PTHR23274,HAMAP:MF_03176	.	.	ENSP00000268043	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000268043	Transcript	.	.	ENSG00000140451	26220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PIF1_HUMAN	PIF1	HGNC	B2RPL7_HUMAN	.	UPI00005EDD9F	SNV	PIF1,missense_variant,p.Val311Glu,ENST00000559239,;PIF1,missense_variant,p.Val311Glu,ENST00000333425,;PIF1,missense_variant,p.Val311Glu,ENST00000268043,;PIF1,non_coding_transcript_exon_variant,,ENST00000558380,;PIF1,non_coding_transcript_exon_variant,,ENST00000558547,;PIF1,upstream_gene_variant,,ENST00000559872,;PIF1,upstream_gene_variant,,ENST00000559522,;PIF1,downstream_gene_variant,,ENST00000560444,;PIF1,downstream_gene_variant,,ENST00000560504,;	1027	182	157	SUCCESS
CSPG4	1464	.	GRCh37	15	75968374	75968374	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	18	0	ENST00000308508.5:c.6486T>G	p.Thr2162=	p.T2162=	ENST00000308508	NM_001897.4	2162	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10284.1	6486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCAGTGGC	NONE	.	.	hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	.	ENSP00000312506	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,synonymous_variant,p.%3D,ENST00000308508,;AC105020.1,upstream_gene_variant,,ENST00000435356,;CTD-2026K11.1,upstream_gene_variant,,ENST00000569467,;	6579	18	26	SUCCESS
ABHD2	11057	.	GRCh37	15	89659582	89659582	+	synonymous_variant	Silent	SNP	C	C	T	rs779284661	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	23	87	0	ENST00000352732.5:c.24C>T	p.Pro8=	p.P8=	ENST00000352732	NM_152924.4	8	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS10348.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCGAACT	NONE	byFrequency	.	hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF35,PIRSF_domain:PIRSF005211	.	.	ENSP00000268129	.	3/11	.	.	.	.	.	.	.	.	rs779284661	3/11	PASS	ENST00000352732	Transcript	.	.	ENSG00000140526	18717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHD2_HUMAN	ABHD2	HGNC	H3BUZ6_HUMAN,H3BN19_HUMAN,H3BMT2_HUMAN	.	UPI000012E24E	SNV	ABHD2,synonymous_variant,p.%3D,ENST00000352732,;ABHD2,synonymous_variant,p.%3D,ENST00000565066,;ABHD2,synonymous_variant,p.%3D,ENST00000569411,;ABHD2,synonymous_variant,p.%3D,ENST00000569550,;ABHD2,synonymous_variant,p.%3D,ENST00000565973,;ABHD2,synonymous_variant,p.%3D,ENST00000355100,;RNU7-195P,upstream_gene_variant,,ENST00000458793,;ABHD2,downstream_gene_variant,,ENST00000565825,;ABHD2,upstream_gene_variant,,ENST00000562073,;ABHD2,downstream_gene_variant,,ENST00000564876,;	544	87	101	SUCCESS
NOMO3	408050	.	GRCh37	16	16356983	16356983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	117	0	ENST00000399336.4:c.1448C>T	p.Thr483Ile	p.T483I	ENST00000399336	NM_001004067.3	483	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS42123.1	1448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACATTTC	NONE	.	.	hmmpanther:PTHR23303	.	.	ENSP00000382274	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000399336	Transcript	.	.	ENSG00000103226	25242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.21)	.	NOMO3_HUMAN	NOMO3	HGNC	Q1LZN2_HUMAN	.	UPI00001AF3F1	SNV	NOMO3,missense_variant,p.Thr483Ile,ENST00000263012,;NOMO3,missense_variant,p.Thr483Ile,ENST00000399336,;NOMO3,missense_variant,p.Thr316Ile,ENST00000538468,;NOMO3,downstream_gene_variant,,ENST00000570519,;NOMO3,3_prime_UTR_variant,,ENST00000575225,;NOMO3,upstream_gene_variant,,ENST00000576269,;NOMO3,upstream_gene_variant,,ENST00000572033,;NOMO3,upstream_gene_variant,,ENST00000576460,;RP11-517A5.6,upstream_gene_variant,,ENST00000573044,;	1620	117	126	SUCCESS
CASKIN1	57524	.	GRCh37	16	2235014	2235014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	49	88	0	ENST00000343516.6:c.1262A>T	p.Gln421Leu	p.Q421L	ENST00000343516	NM_020764.3	421	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42103.1	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGGGAA	NONE	.	.	hmmpanther:PTHR24177:SF12,hmmpanther:PTHR24177	.	.	ENSP00000345436	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000343516	Transcript	.	.	ENSG00000167971	20879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	.	.	CSKI1_HUMAN	CASKIN1	HGNC	D3DU87_HUMAN	.	UPI0000073A3B	SNV	CASKIN1,missense_variant,p.Gln421Leu,ENST00000343516,;CASKIN1,non_coding_transcript_exon_variant,,ENST00000564289,;CASKIN1,downstream_gene_variant,,ENST00000562055,;	1355	88	105	SUCCESS
PRKCB	5579	.	GRCh37	16	24105573	24105573	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	84	144	0	ENST00000321728.7:c.776T>C	p.Leu259Ser	p.L259S	ENST00000321728	NM_212535.2	259	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS10619.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTTGTCCT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,Pfam_domain:PF00168,Gene3D:2.60.40.150,PIRSF_domain:PIRSF000550,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000305355	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000303531	Transcript	.	.	ENSG00000166501	9395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	deleterious(0.02)	.	KPCB_HUMAN	PRKCB	HGNC	I3L1Z0_HUMAN	.	UPI000002ACF9	SNV	PRKCB,missense_variant,p.Leu259Ser,ENST00000303531,;PRKCB,missense_variant,p.Leu74Ser,ENST00000498739,;PRKCB,missense_variant,p.Leu259Ser,ENST00000321728,;PRKCB,non_coding_transcript_exon_variant,,ENST00000482000,;PRKCB,downstream_gene_variant,,ENST00000486868,;	928	144	186	SUCCESS
ITGAM	3684	.	GRCh37	16	31336309	31336309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	41	0	ENST00000287497.8:c.2320A>T	p.Asn774Tyr	p.N774Y	ENST00000287497		774	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS54004.1	2323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAACATC	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000441691	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	tolerated(0.08)	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,missense_variant,p.Asn774Tyr,ENST00000287497,;ITGAM,missense_variant,p.Asn775Tyr,ENST00000544665,;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	2394	41	65	SUCCESS
NOD2	64127	.	GRCh37	16	50746089	50746089	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375713299	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	52	0	ENST00000300589.2:c.2267G>T	p.Arg756Leu	p.R756L	ENST00000300589	NM_022162.1	756	cGg/cTg	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS10746.1	2267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCGGAAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,Gene3D:3.80.10.10	.	A:0.0001	ENSP00000300589	.	4/12	.	.	.	.	.	.	.	.	rs375713299,COSM1378211	4/12	PASS	ENST00000300589	Transcript	.	.	ENSG00000167207	5331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.246)	.	deleterious(0)	0,1	NOD2_HUMAN	NOD2	HGNC	Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN	.	UPI000005027A	SNV	NOD2,missense_variant,p.Arg756Leu,ENST00000300589,;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,downstream_gene_variant,,ENST00000532206,;NOD2,downstream_gene_variant,,ENST00000526417,;NOD2,downstream_gene_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000527052,;NOD2,upstream_gene_variant,,ENST00000534067,;	2372	52	87	SUCCESS
SALL1	6299	.	GRCh37	16	51175130	51175130	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs759692437	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	55	0	ENST00000251020.4:c.1003A>T	p.Ser335Cys	p.S335C	ENST00000251020	NM_002968.2	335	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS10747.1	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCTGTTGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	rs759692437	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.599)	.	deleterious(0.01)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Ser335Cys,ENST00000251020,;SALL1,missense_variant,p.Ser238Cys,ENST00000570206,;SALL1,missense_variant,p.Ser238Cys,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	1037	55	79	SUCCESS
BBS2	583	.	GRCh37	16	56545111	56545111	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	49	0	ENST00000245157.5:c.431T>A	p.Leu144Gln	p.L144Q	ENST00000245157	NM_031885.3	144	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32451.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCAGAGCA	NONE	.	.	PIRSF_domain:PIRSF013684,Pfam_domain:PF14781,Gene3D:3nigC00,hmmpanther:PTHR32465,hmmpanther:PTHR32465:SF0	.	.	ENSP00000245157	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000245157	Transcript	.	.	ENSG00000125124	967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	BBS2_HUMAN	BBS2	HGNC	Q8ND60_HUMAN,J3QLW0_HUMAN	.	UPI0000167B72	SNV	BBS2,missense_variant,p.Leu144Gln,ENST00000568104,;BBS2,missense_variant,p.Leu144Gln,ENST00000245157,;BBS2,5_prime_UTR_variant,,ENST00000569941,;BBS2,non_coding_transcript_exon_variant,,ENST00000566689,;BBS2,non_coding_transcript_exon_variant,,ENST00000565378,;BBS2,non_coding_transcript_exon_variant,,ENST00000561951,;BBS2,non_coding_transcript_exon_variant,,ENST00000569342,;BBS2,non_coding_transcript_exon_variant,,ENST00000565781,;BBS2,upstream_gene_variant,,ENST00000562012,;BBS2,upstream_gene_variant,,ENST00000565859,;	852	49	73	SUCCESS
KATNB1	10300	.	GRCh37	16	57785926	57785926	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	61	0	ENST00000379661.3:c.591T>G	p.Phe197Leu	p.F197L	ENST00000379661	NM_005886.2	197	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS10788.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTTCACCC	NONE	.	.	HAMAP:MF_03022,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19845,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000368982	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000379661	Transcript	.	.	ENSG00000140854	6217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KTNB1_HUMAN	KATNB1	HGNC	H3BTV8_HUMAN,H3BPK1_HUMAN	.	UPI000007388F	SNV	KATNB1,missense_variant,p.Phe197Leu,ENST00000562592,;KATNB1,missense_variant,p.Phe197Leu,ENST00000379661,;KATNB1,missense_variant,p.Phe201Leu,ENST00000566726,;KATNB1,upstream_gene_variant,,ENST00000563462,;KATNB1,downstream_gene_variant,,ENST00000569627,;KATNB1,non_coding_transcript_exon_variant,,ENST00000563127,;KATNB1,non_coding_transcript_exon_variant,,ENST00000566611,;KATNB1,upstream_gene_variant,,ENST00000562542,;KATNB1,upstream_gene_variant,,ENST00000569018,;	983	61	97	SUCCESS
TK2	7084	.	GRCh37	16	66583527	66583527	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	25	0	ENST00000299697.7:c.250+314G>C		p.*84*	ENST00000299697	NM_001172644.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10805.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ATCGCCCCCAA	NONE	.	.	.	.	.	ENSP00000414334	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451102	Transcript	.	.	ENSG00000166548	11831	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KITM_HUMAN	TK2	HGNC	J3QL12_HUMAN,J3KS73_HUMAN,B4DZK7_HUMAN	.	UPI00001AECBD	SNV	TK2,5_prime_UTR_variant,,ENST00000527800,;TK2,5_prime_UTR_variant,,ENST00000525974,;TK2,intron_variant,,ENST00000563369,;TK2,intron_variant,,ENST00000569718,;TK2,intron_variant,,ENST00000527284,;TK2,intron_variant,,ENST00000299697,;TK2,intron_variant,,ENST00000544898,;TK2,intron_variant,,ENST00000563478,;TK2,intron_variant,,ENST00000417693,;TK2,intron_variant,,ENST00000451102,;TK2,intron_variant,,ENST00000562484,;TK2,intron_variant,,ENST00000564917,;TK2,intron_variant,,ENST00000545043,;CKLF-CMTM1,upstream_gene_variant,,ENST00000532838,;CKLF,upstream_gene_variant,,ENST00000417030,;CKLF,upstream_gene_variant,,ENST00000351137,;CKLF,upstream_gene_variant,,ENST00000264001,;CKLF-CMTM1,upstream_gene_variant,,ENST00000527729,;CKLF,upstream_gene_variant,,ENST00000345436,;CKLF,upstream_gene_variant,,ENST00000362093,;Y_RNA,non_coding_transcript_exon_variant,,ENST00000563151,;Y_RNA,upstream_gene_variant,,ENST00000411222,;TK2,upstream_gene_variant,,ENST00000565729,;CKLF,upstream_gene_variant,,ENST00000563092,;TK2,intron_variant,,ENST00000567357,;CKLF-CMTM1,upstream_gene_variant,,ENST00000527845,;CKLF,upstream_gene_variant,,ENST00000534692,;CKLF,upstream_gene_variant,,ENST00000526149,;	.	25	13	SUCCESS
ZC3H18	124245	.	GRCh37	16	88643896	88643896	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	55	0	ENST00000301011.5:c.365A>T	p.Glu122Val	p.E122V	ENST00000301011	NM_144604.3	122	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10967.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGAGCTGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10	.	.	ENSP00000301011	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000301011	Transcript	.	.	ENSG00000158545	25091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	ZCH18_HUMAN	ZC3H18	HGNC	H3BRH3_HUMAN,B3KRL4_HUMAN	.	UPI00001FF676	SNV	ZC3H18,missense_variant,p.Glu122Val,ENST00000452588,;ZC3H18,missense_variant,p.Glu122Val,ENST00000301011,;ZC3H18,intron_variant,,ENST00000569435,;	565	55	79	SUCCESS
MYH8	4626	.	GRCh37	17	10314242	10314242	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	28	89	0	ENST00000403437.2:c.1439G>T	p.Cys480Phe	p.C480F	ENST00000403437	NM_002472.2	480	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS11153.1	1439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCACAGC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000384330	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Cys480Phe,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1534	89	104	SUCCESS
SMYD4	114826	.	GRCh37	17	1703349	1703349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	89	0	ENST00000305513.7:c.1339G>T	p.Val447Phe	p.V447F	ENST00000305513	NM_052928.2	447	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS11013.1	1339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACACAGA	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR12197:SF152,hmmpanther:PTHR12197,Pfam_domain:PF00856	.	.	ENSP00000304360	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000305513	Transcript	.	.	ENSG00000186532	21067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	SMYD4_HUMAN	SMYD4	HGNC	I3L496_HUMAN,I3L428_HUMAN,I3L2P4_HUMAN	.	UPI000013EA5C	SNV	SMYD4,missense_variant,p.Val251Phe,ENST00000491788,;SMYD4,missense_variant,p.Val447Phe,ENST00000305513,;SMYD4,downstream_gene_variant,,ENST00000570368,;SMYD4,downstream_gene_variant,,ENST00000571854,;SMYD4,downstream_gene_variant,,ENST00000573937,;	1507	89	75	SUCCESS
TBC1D3G	101060321	.	GRCh37	17	34803368	34803368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	29	0	ENST00000341264.6:c.451G>T	p.Gly151Trp	p.G151W	ENST00000341264	NM_001040282.2	151	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS32629.1	451	RADIA|VARSCANS	.	TGTCCCGCTTA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000345014	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000341264	Transcript	.	.	ENSG00000161583	29860	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	tolerated(0.14)	.	TBC3G_HUMAN	TBC1D3G	HGNC	K7EPE3_HUMAN,K7EIT9_HUMAN,F5GYN8_HUMAN	.	UPI000023769F	SNV	TBC1D3G,missense_variant,p.Gly151Trp,ENST00000330458,;TBC1D3G,missense_variant,p.Gly71Trp,ENST00000535805,;TBC1D3G,missense_variant,p.Gly151Trp,ENST00000394453,;TBC1D3G,missense_variant,p.Gly151Trp,ENST00000341264,;TBC1D3G,missense_variant,p.Gly212Trp,ENST00000591542,;TBC1D3G,missense_variant,p.Gly151Trp,ENST00000535592,;TBC1D3G,missense_variant,p.Gly151Trp,ENST00000592614,;TBC1D3H,intron_variant,,ENST00000400684,;TBC1D3H,intron_variant,,ENST00000535446,;TBC1D3G,downstream_gene_variant,,ENST00000592987,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000587756,;TBC1D3G,downstream_gene_variant,,ENST00000589650,;TBC1D3G,downstream_gene_variant,,ENST00000588834,;TBC1D3G,3_prime_UTR_variant,,ENST00000590913,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000589602,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000588999,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000589896,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000589513,;TBC1D3G,downstream_gene_variant,,ENST00000586554,;TBC1D3G,downstream_gene_variant,,ENST00000591233,;TBC1D3G,upstream_gene_variant,,ENST00000587378,;	608	29	36	SUCCESS
GPR179	440435	.	GRCh37	17	36485868	36485868	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767734454	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	87	0	ENST00000342292.4:c.3584C>T	p.Ala1195Val	p.A1195V	ENST00000342292	NM_001004334.2	1195	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS42308.1	3584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGCTCTC	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	rs767734454	11/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.16)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Ala1195Val,ENST00000342292,;GPR179,upstream_gene_variant,,ENST00000584976,;	3605	87	86	SUCCESS
MED24	9862	.	GRCh37	17	38183205	38183205	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	38	115	0	ENST00000394128.2:c.1613A>T	p.Lys538Met	p.K538M	ENST00000394128	NM_014815.3	538	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS11359.1	1613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTTGCCC	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.Lys557Met,ENST00000501516,;MED24,missense_variant,p.Lys488Met,ENST00000535071,;MED24,missense_variant,p.Lys525Met,ENST00000356271,;MED24,missense_variant,p.Lys538Met,ENST00000394128,;MED24,missense_variant,p.Lys563Met,ENST00000394126,;MED24,missense_variant,p.Lys479Met,ENST00000580885,;MED24,missense_variant,p.Lys525Met,ENST00000394127,;MED24,upstream_gene_variant,,ENST00000422942,;SNORD124,downstream_gene_variant,,ENST00000459577,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,3_prime_UTR_variant,,ENST00000581058,;MED24,non_coding_transcript_exon_variant,,ENST00000580921,;MED24,non_coding_transcript_exon_variant,,ENST00000584782,;MED24,non_coding_transcript_exon_variant,,ENST00000495586,;MED24,downstream_gene_variant,,ENST00000584077,;MED24,upstream_gene_variant,,ENST00000492176,;MED24,downstream_gene_variant,,ENST00000578901,;MED24,upstream_gene_variant,,ENST00000580720,;MED24,upstream_gene_variant,,ENST00000491466,;	1695	115	122	SUCCESS
TOP2A	7153	.	GRCh37	17	38557137	38557137	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	102	0	ENST00000423485.1:c.2629A>T	p.Arg877Trp	p.R877W	ENST00000423485	NM_001067.3	877	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS45672.1	2629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCTGATGT	NONE	.	.	hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Pfam_domain:PF00521,Gene3D:3.90.199.10,SMART_domains:SM00434,Superfamily_domains:SSF56719	.	.	ENSP00000411532	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000423485	Transcript	.	.	ENSG00000131747	11989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	TOP2A_HUMAN	TOP2A	HGNC	J3QR57_HUMAN,J3KTB7_HUMAN	.	UPI0000137195	SNV	TOP2A,missense_variant,p.Arg877Trp,ENST00000423485,;TOP2A,upstream_gene_variant,,ENST00000577706,;	2788	102	93	SUCCESS
STAT3	6774	.	GRCh37	17	40474482	40474482	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs769031989	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	34	128	0	ENST00000264657.5:c.1919A>T	p.Tyr640Phe	p.Y640F	ENST00000264657	NM_139276.2	640	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32656.1	1919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGTATGGT	SITE|p.Y640F|c.1919A>T|47	byFrequency	.	PROSITE_profiles:PS50001,hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Gene3D:3.30.505.10,Pfam_domain:PF00017,Superfamily_domains:SSF55550	.	.	ENSP00000264657	.	21/24	.	.	.	.	.	.	.	.	rs769031989,COSM1155743	21/24	PASS	ENST00000264657	Transcript	.	.	ENSG00000168610	11364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	tolerated(0.24)	0,1	STAT3_HUMAN	STAT3	HGNC	G8JLH9_HUMAN	.	UPI0000031047	SNV	STAT3,missense_variant,p.Tyr640Phe,ENST00000588969,;STAT3,missense_variant,p.Tyr640Phe,ENST00000585517,;STAT3,missense_variant,p.Tyr640Phe,ENST00000404395,;STAT3,missense_variant,p.Tyr542Phe,ENST00000389272,;STAT3,missense_variant,p.Tyr640Phe,ENST00000264657,;STAT3,downstream_gene_variant,,ENST00000471989,;STAT3,downstream_gene_variant,,ENST00000498330,;STAT3,upstream_gene_variant,,ENST00000462269,;	2232	128	125	SUCCESS
COL1A1	1277	.	GRCh37	17	48276663	48276663	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs746847841	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	30	153	0	ENST00000225964.5:c.395A>T	p.Asp132Val	p.D132V	ENST00000225964	NM_000088.3	132	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS11561.1	395	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATCTCGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01391	.	.	ENSP00000225964	.	5/51	.	.	.	.	.	.	.	.	rs746847841	5/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,missense_variant,p.Asp132Val,ENST00000225964,;COL1A1,missense_variant,p.Asp150Val,ENST00000507689,;COL1A1,non_coding_transcript_exon_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000463440,;	514	153	155	SUCCESS
TEX2	55852	.	GRCh37	17	62290645	62290645	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	69	0	ENST00000583097.1:c.933A>T	p.Glu311Asp	p.E311D	ENST00000583097		311	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11658.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTTCCCC	NONE	.	.	.	.	.	ENSP00000258991	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(1)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Glu311Asp,ENST00000584379,;TEX2,missense_variant,p.Glu311Asp,ENST00000258991,;TEX2,missense_variant,p.Glu311Asp,ENST00000583097,;TEX2,downstream_gene_variant,,ENST00000583922,;TEX2,upstream_gene_variant,,ENST00000583501,;TEX2,downstream_gene_variant,,ENST00000583738,;	1018	69	72	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62891092	62891092	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777523573	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	282	12	333	0	ENST00000319651.5:c.2284G>A	p.Glu762Lys	p.E762K	ENST00000319651		762	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS32708.1	2284	MUTECT|MUSE	.	AGTCTCTGTAG	NONE	.	.	hmmpanther:PTHR23045	.	.	ENSP00000464535	.	3/14	.	.	.	.	.	.	.	.	rs777523573	3/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.093)	.	deleterious(0.01)	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,missense_variant,p.Glu762Lys,ENST00000319651,;LRRC37A3,missense_variant,p.Glu762Lys,ENST00000584306,;LRRC37A3,missense_variant,p.Glu29Lys,ENST00000580464,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;RP11-927P21.1,intron_variant,,ENST00000577938,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	2815	334	295	SUCCESS
AMZ2P1	201283	.	GRCh37	17	62969442	62969442	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	32	0	ENST00000430983.1:n.1208C>A		p.*403*	ENST00000430983				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGGGGGGC	NONE	.	.	.	.	.	.	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000430983	Transcript	.	.	ENSG00000214174	26491	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AMZ2P1	HGNC	.	.	.	SNV	AMZ2P1,non_coding_transcript_exon_variant,,ENST00000430983,;AMZ2P1,non_coding_transcript_exon_variant,,ENST00000397713,;AMZ2P1,non_coding_transcript_exon_variant,,ENST00000565833,;	1208	32	28	SUCCESS
ABCA9	10350	.	GRCh37	17	66988376	66988376	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	49	178	0	ENST00000340001.4:c.3656T>G	p.Ile1219Ser	p.I1219S	ENST00000340001	NM_080283.3	1219	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS11681.1	3656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAATGAAA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF12698,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	.	.	ENSP00000342216	.	28/39	.	.	.	.	.	.	.	.	.	28/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.598)	.	deleterious(0)	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,missense_variant,p.Ile1219Ser,ENST00000370732,;ABCA9,missense_variant,p.Ile1181Ser,ENST00000453985,;ABCA9,missense_variant,p.Ile1219Ser,ENST00000340001,;ABCA9,upstream_gene_variant,,ENST00000482072,;ABCA9,non_coding_transcript_exon_variant,,ENST00000460872,;	3868	178	201	SUCCESS
COG1	9382	.	GRCh37	17	71197661	71197661	+	synonymous_variant	Silent	SNP	C	C	G	rs760702621	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	74	0	ENST00000299886.4:c.1695C>G	p.Thr565=	p.T565=	ENST00000299886	NM_018714.2	565	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS11692.1	1695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCGTGCA	NONE	byFrequency	.	hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0	.	.	ENSP00000299886	.	7/14	.	.	.	.	.	.	.	.	rs760702621	7/14	PASS	ENST00000299886	Transcript	.	.	ENSG00000166685	6545	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COG1_HUMAN	COG1	HGNC	J3KSY3_HUMAN	.	UPI0000127E34	SNV	COG1,synonymous_variant,p.%3D,ENST00000438720,;COG1,synonymous_variant,p.%3D,ENST00000299886,;COG1,upstream_gene_variant,,ENST00000582512,;COG1,upstream_gene_variant,,ENST00000582672,;RP11-143K11.5,downstream_gene_variant,,ENST00000580671,;COG1,upstream_gene_variant,,ENST00000577844,;COG1,upstream_gene_variant,,ENST00000577238,;COG1,downstream_gene_variant,,ENST00000582587,;COG1,upstream_gene_variant,,ENST00000580271,;	1775	74	75	SUCCESS
C17orf99	100141515	.	GRCh37	17	76160372	76160372	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	44	164	0	ENST00000340363.5:c.567A>G	p.Thr189=	p.T189=	ENST00000340363	NM_001163075.1	189	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS54171.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACATCGGA	NONE	.	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF53	.	.	ENSP00000343493	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000340363	Transcript	.	.	ENSG00000187997	34490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ099_HUMAN	C17orf99	HGNC	.	.	UPI000049DE67	SNV	C17orf99,synonymous_variant,p.%3D,ENST00000340363,;C17orf99,synonymous_variant,p.%3D,ENST00000591995,;SYNGR2,upstream_gene_variant,,ENST00000589711,;SYNGR2,upstream_gene_variant,,ENST00000225777,;C17orf99,downstream_gene_variant,,ENST00000586999,;SYNGR2,upstream_gene_variant,,ENST00000589168,;SYNGR2,upstream_gene_variant,,ENST00000585591,;SYNGR2,upstream_gene_variant,,ENST00000588282,;SYNGR2,upstream_gene_variant,,ENST00000590201,;C17orf99,non_coding_transcript_exon_variant,,ENST00000586029,;C17orf99,non_coding_transcript_exon_variant,,ENST00000451352,;C17orf99,upstream_gene_variant,,ENST00000586246,;SYNGR2,upstream_gene_variant,,ENST00000589183,;SYNGR2,upstream_gene_variant,,ENST00000591770,;	622	164	154	SUCCESS
DNAH2	146754	.	GRCh37	17	7681450	7681450	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	66	0	ENST00000389173.2:c.5303A>T	p.Glu1768Val	p.E1768V	ENST00000389173	NM_020877.2	1768	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32551.1	5303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGAGTACT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12774	.	.	ENSP00000458355	.	34/86	.	.	.	.	.	.	.	.	.	34/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Glu1768Val,ENST00000389173,;DNAH2,missense_variant,p.Glu1768Val,ENST00000572933,;DNAH2,3_prime_UTR_variant,,ENST00000574518,;	6763	66	74	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14842894	14842894	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	314	80	390	0	ENST00000358984.4:c.2723-2A>G		p.X908_splice	ENST00000358984	NM_001145029.1	908		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54182.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAGAGTC	NONE	.	.	.	.	.	ENSP00000351875	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	HIGH	31/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,splice_acceptor_variant,,ENST00000358984,;ANKRD30B,splice_acceptor_variant,,ENST00000320584,;	.	390	395	SUCCESS
GATA6	2627	.	GRCh37	18	19751506	19751506	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763120373	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	697	256	1146	0	ENST00000269216.3:c.401C>G	p.Ala134Gly	p.A134G	ENST00000269216	NM_005257.4	134	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS11872.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGCCAAGC	NONE	byFrequency	.	hmmpanther:PTHR10071:SF23,hmmpanther:PTHR10071	.	.	ENSP00000269216	.	2/7	.	.	.	.	.	.	.	.	rs763120373	2/7	PASS	ENST00000269216	Transcript	.	.	ENSG00000141448	4174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious_low_confidence(0.04)	.	GATA6_HUMAN	GATA6	HGNC	Q05CA6_HUMAN	.	UPI0000201AC8	SNV	GATA6,missense_variant,p.Ala134Gly,ENST00000269216,;GATA6,missense_variant,p.Ala134Gly,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;RP11-627G18.2,downstream_gene_variant,,ENST00000578504,;	678	1146	953	SUCCESS
MYOM1	8736	.	GRCh37	18	3215130	3215130	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777908113	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	73	0	ENST00000356443.4:c.92G>A	p.Arg31Gln	p.R31Q	ENST00000356443	NM_019856.1	31	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45824.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCGCTGG	NONE	byFrequency	.	.	.	.	ENSP00000348821	.	2/38	.	.	.	.	.	.	.	.	rs777908113,COSM116256	2/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated_low_confidence(1)	0,1	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Arg31Gln,ENST00000356443,;MYOM1,missense_variant,p.Arg31Gln,ENST00000400569,;MYOM1,missense_variant,p.Arg31Gln,ENST00000261606,;RP13-270P17.2,intron_variant,,ENST00000580139,;	426	73	67	SUCCESS
PIAS2	9063	.	GRCh37	18	44400939	44400939	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	136	0	ENST00000585916.1:c.1605A>G	p.Pro535=	p.P535=	ENST00000585916	NM_004671.3	535	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS32824.1	1605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATGGTAC	NONE	.	.	hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF12	.	.	ENSP00000465676	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000585916	Transcript	.	.	ENSG00000078043	17311	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIAS2_HUMAN	PIAS2	HGNC	K7EJT4_HUMAN	.	UPI0000201CB9	SNV	PIAS2,synonymous_variant,p.%3D,ENST00000324794,;PIAS2,synonymous_variant,p.%3D,ENST00000545673,;PIAS2,synonymous_variant,p.%3D,ENST00000585916,;PIAS2,3_prime_UTR_variant,,ENST00000398654,;	1605	136	106	SUCCESS
PTPRM	5797	.	GRCh37	18	7926575	7926575	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	71	0	ENST00000332175.8:c.557C>T	p.Pro186Leu	p.P186L	ENST00000332175	NM_002845.3	186	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS58613.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCTCACT	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50835	.	.	ENSP00000463325	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.Pro186Leu,ENST00000332175,;PTPRM,missense_variant,p.Pro124Leu,ENST00000400053,;PTPRM,missense_variant,p.Pro186Leu,ENST00000400060,;PTPRM,missense_variant,p.Pro186Leu,ENST00000580170,;	1594	71	61	SUCCESS
PODNL1	79883	.	GRCh37	19	14047181	14047181	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	61	0	ENST00000339560.5:c.339A>G		p.X113_splice	ENST00000339560	NM_024825.3	113	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS12300.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTTCGGA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000345175	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000339560	Transcript	.	.	ENSG00000132000	26275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PONL1_HUMAN	PODNL1	HGNC	.	.	UPI0000366D47	SNV	PODNL1,missense_variant,p.Lys53Arg,ENST00000586075,;PODNL1,missense_variant,p.Lys53Arg,ENST00000254320,;PODNL1,synonymous_variant,p.%3D,ENST00000538517,;PODNL1,synonymous_variant,p.%3D,ENST00000585607,;PODNL1,synonymous_variant,p.%3D,ENST00000339560,;PODNL1,synonymous_variant,p.%3D,ENST00000538371,;PODNL1,upstream_gene_variant,,ENST00000588764,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,splice_region_variant,,ENST00000587288,;	613	61	64	SUCCESS
JAK3	3718	.	GRCh37	19	17954263	17954263	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	45	156	0	ENST00000458235.1:c.346C>A	p.His116Asn	p.H116N	ENST00000458235	NM_000215.3	116	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS12366.1	346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTGGCACT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,PIRSF_domain:PIRSF000636,SMART_domains:SM00295	.	.	ENSP00000391676	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	tolerated(0.13)	.	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.His116Asn,ENST00000458235,;JAK3,missense_variant,p.His116Asn,ENST00000534444,;JAK3,missense_variant,p.His116Asn,ENST00000527670,;JAK3,non_coding_transcript_exon_variant,,ENST00000526008,;JAK3,non_coding_transcript_exon_variant,,ENST00000527031,;JAK3,non_coding_transcript_exon_variant,,ENST00000528293,;JAK3,upstream_gene_variant,,ENST00000528705,;	446	156	206	SUCCESS
S1PR4	8698	.	GRCh37	19	3179175	3179175	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	27	118	0	ENST00000246115.3:c.385C>T	p.Leu129=	p.L129=	ENST00000246115	NM_003775.3	129	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12105.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCTGGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF13,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01523,Prints_domain:PR00237	.	.	ENSP00000246115	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000246115	Transcript	.	.	ENSG00000125910	3170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR4_HUMAN	S1PR4	HGNC	.	.	UPI0000050462	SNV	S1PR4,synonymous_variant,p.%3D,ENST00000246115,;S1PR4,intron_variant,,ENST00000591346,;	440	118	146	SUCCESS
KIRREL2	84063	.	GRCh37	19	36351548	36351548	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	53	0	ENST00000360202.5:c.907A>C	p.Ser303Arg	p.S303R	ENST00000360202	NM_032123.5	303	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS12481.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCAGTACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000353331	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000360202	Transcript	.	.	ENSG00000126259	18816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	KIRR2_HUMAN	KIRREL2	HGNC	.	.	UPI0000366DD8	SNV	KIRREL2,missense_variant,p.Ser303Arg,ENST00000592409,;KIRREL2,missense_variant,p.Ser303Arg,ENST00000262625,;KIRREL2,missense_variant,p.Ser303Arg,ENST00000360202,;KIRREL2,missense_variant,p.Ser253Arg,ENST00000347900,;KIRREL2,downstream_gene_variant,,ENST00000586102,;NPHS1,intron_variant,,ENST00000591817,;	1105	53	68	SUCCESS
SPTBN4	57731	.	GRCh37	19	41025770	41025770	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	20	0	ENST00000352632.3:c.3366A>T	p.Leu1122=	p.L1122=	ENST00000352632		1122	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12559.1	3366	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTAGAAGA	NONE	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000263373	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,synonymous_variant,p.%3D,ENST00000338932,;SPTBN4,synonymous_variant,p.%3D,ENST00000352632,;SPTBN4,synonymous_variant,p.%3D,ENST00000598249,;SPTBN4,synonymous_variant,p.%3D,ENST00000595535,;SPTBN4,synonymous_variant,p.%3D,ENST00000344104,;SPTBN4,upstream_gene_variant,,ENST00000392025,;SPTBN4,synonymous_variant,p.%3D,ENST00000597389,;	3452	20	31	SUCCESS
HNRNPUL1	11100	.	GRCh37	19	41808816	41808816	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147281768	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	39	167	0	ENST00000392006.3:c.1934G>A	p.Arg645Gln	p.R645Q	ENST00000392006	NM_007040.3	645	cGa/cAa	0	A:0	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS12576.1	1934	RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGAGGGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41	A:0	A:0.0002	ENSP00000375863	A:0.001	12/15	.	.	.	.	.	.	.	.	rs147281768	12/15	PASS	ENST00000392006	Transcript	.	A:0.0002	ENSG00000105323	17011	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	A:0	tolerated(0.1)	.	HNRL1_HUMAN	HNRNPUL1	HGNC	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN	.	UPI000013D3F4	SNV	HNRNPUL1,missense_variant,p.Arg645Gln,ENST00000392006,;HNRNPUL1,missense_variant,p.Arg531Gln,ENST00000378215,;HNRNPUL1,missense_variant,p.Arg545Gln,ENST00000595018,;HNRNPUL1,missense_variant,p.Arg556Gln,ENST00000263367,;HNRNPUL1,missense_variant,p.Arg645Gln,ENST00000602130,;HNRNPUL1,missense_variant,p.Arg494Gln,ENST00000599614,;HNRNPUL1,missense_variant,p.Arg545Gln,ENST00000352456,;HNRNPUL1,missense_variant,p.Arg545Gln,ENST00000593587,;TGFB1,intron_variant,,ENST00000598758,;HNRNPUL1,downstream_gene_variant,,ENST00000600493,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,non_coding_transcript_exon_variant,,ENST00000595806,;	2107	167	221	SUCCESS
IRGQ	126298	.	GRCh37	19	44096203	44096203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	109	0	ENST00000422989.1:c.1847T>A	p.Leu616Gln	p.L616Q	ENST00000422989	NM_001007561.2	616	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS33040.1	1847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGCACA	NONE	.	.	hmmpanther:PTHR19364,hmmpanther:PTHR19364:SF2	.	.	ENSP00000387535	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422989	Transcript	.	.	ENSG00000167378	24868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	IRGQ_HUMAN	IRGQ	HGNC	M0QZP8_HUMAN	.	UPI000003FDB6	SNV	IRGQ,missense_variant,p.Leu616Gln,ENST00000422989,;IRGQ,missense_variant,p.Leu616Gln,ENST00000602269,;L34079.2,intron_variant,,ENST00000594374,;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000528387,;SRRM5,upstream_gene_variant,,ENST00000607544,;ZNF576,upstream_gene_variant,,ENST00000391965,;ZNF576,upstream_gene_variant,,ENST00000336564,;SRRM5,upstream_gene_variant,,ENST00000526798,;ZNF576,upstream_gene_variant,,ENST00000529930,;IRGQ,downstream_gene_variant,,ENST00000598324,;ZNF576,upstream_gene_variant,,ENST00000533118,;IRGQ,intron_variant,,ENST00000601520,;IRGQ,upstream_gene_variant,,ENST00000596409,;ZNF576,upstream_gene_variant,,ENST00000595041,;	2003	109	154	SUCCESS
TPRX1	284355	.	GRCh37	19	48305829	48305829	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1599949765	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	30	137	0	ENST00000322175.3:c.439G>A	p.Gly147Ser	p.G147S	ENST00000322175	NM_198479.2	147	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS33066.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF18	.	.	ENSP00000323455	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322175	Transcript	.	.	ENSG00000178928	32174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.52)	.	TPRX1_HUMAN	TPRX1	HGNC	.	.	UPI0000198666	SNV	TPRX1,missense_variant,p.Gly147Ser,ENST00000543508,;TPRX1,missense_variant,p.Gly147Ser,ENST00000322175,;TPRX1,missense_variant,p.Gly244Ser,ENST00000535759,;	595	137	182	SUCCESS
ZNF649	65251	.	GRCh37	19	52394656	52394656	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	88	184	1	ENST00000354957.3:c.733A>C	p.Lys245Gln	p.K245Q	ENST00000354957	NM_023074.3	245	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS12843.1	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTTGTAGA	BUFFER|p.R246K|c.737G>A|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF24,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347043	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000354957	Transcript	.	.	ENSG00000198093	25741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.31)	.	ZN649_HUMAN	ZNF649	HGNC	M0R098_HUMAN	.	UPI000006D442	SNV	ZNF649,missense_variant,p.Lys245Gln,ENST00000354957,;ZNF649,splice_region_variant,,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000591320,;ZNF577,upstream_gene_variant,,ENST00000419138,;ZNF577,upstream_gene_variant,,ENST00000451628,;ZNF577,upstream_gene_variant,,ENST00000453272,;ZNF577,upstream_gene_variant,,ENST00000592321,;ZNF577,upstream_gene_variant,,ENST00000301399,;ZNF577,upstream_gene_variant,,ENST00000420592,;ZNF577,upstream_gene_variant,,ENST00000412216,;ZNF577,upstream_gene_variant,,ENST00000446514,;ZNF577,upstream_gene_variant,,ENST00000458390,;CTC-429C10.2,intron_variant,,ENST00000600329,;ZNF577,upstream_gene_variant,,ENST00000484095,;ZNF577,upstream_gene_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000589784,;ZNF577,upstream_gene_variant,,ENST00000588878,;ZNF649,downstream_gene_variant,,ENST00000599671,;	1018	185	222	SUCCESS
PTPRS	5802	.	GRCh37	19	5243988	5243988	+	synonymous_variant	Silent	SNP	G	G	A	rs765834722	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	22	0	ENST00000357368.4:c.1494C>T	p.Thr498=	p.T498=	ENST00000357368	NM_002850.3	498	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS45930.1	1494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACGGTGTA	NONE	byFrequency	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	.	ENSP00000349932	.	11/38	.	.	.	.	.	.	.	.	rs765834722	11/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	SNV	PTPRS,synonymous_variant,p.%3D,ENST00000353284,;PTPRS,synonymous_variant,p.%3D,ENST00000587303,;PTPRS,synonymous_variant,p.%3D,ENST00000372412,;PTPRS,synonymous_variant,p.%3D,ENST00000588012,;PTPRS,synonymous_variant,p.%3D,ENST00000262963,;PTPRS,synonymous_variant,p.%3D,ENST00000357368,;PTPRS,synonymous_variant,p.%3D,ENST00000592099,;PTPRS,synonymous_variant,p.%3D,ENST00000348075,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;	1728	22	23	SUCCESS
PTPRS	5802	.	GRCh37	19	5244417	5244417	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	50	103	0	ENST00000357368.4:c.1065C>T	p.Gly355=	p.G355=	ENST00000357368	NM_002850.3	355	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45930.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTGCCCGA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	.	ENSP00000349932	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	SNV	PTPRS,synonymous_variant,p.%3D,ENST00000353284,;PTPRS,synonymous_variant,p.%3D,ENST00000587303,;PTPRS,synonymous_variant,p.%3D,ENST00000372412,;PTPRS,synonymous_variant,p.%3D,ENST00000588012,;PTPRS,synonymous_variant,p.%3D,ENST00000262963,;PTPRS,synonymous_variant,p.%3D,ENST00000357368,;PTPRS,synonymous_variant,p.%3D,ENST00000592099,;PTPRS,synonymous_variant,p.%3D,ENST00000348075,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;	1299	103	121	SUCCESS
ZNF350	59348	.	GRCh37	19	52468991	52468991	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	41	88	1	ENST00000243644.4:c.715T>A	p.Cys239Ser	p.C239S	ENST00000243644	NM_021632.3	239	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12845.1	715	RADIA|MUTECT|MUSE	.	CTCACATAGAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF11,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000243644	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000243644	Transcript	.	.	ENSG00000256683	16656	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN350_HUMAN	ZNF350	HGNC	M0R1T8_HUMAN,M0R017_HUMAN,M0QYT6_HUMAN,M0QY52_HUMAN	.	UPI00000721F1	SNV	ZNF350,missense_variant,p.Cys239Ser,ENST00000243644,;ZNF350,downstream_gene_variant,,ENST00000593596,;ZNF350,downstream_gene_variant,,ENST00000594929,;ZNF350,downstream_gene_variant,,ENST00000601430,;ZNF350,downstream_gene_variant,,ENST00000597788,;HCCAT3,intron_variant,,ENST00000600253,;HCCAT3,intron_variant,,ENST00000595010,;ZNF350,downstream_gene_variant,,ENST00000600703,;ZNF350,downstream_gene_variant,,ENST00000598254,;	943	89	98	SUCCESS
ZNF808	388558	.	GRCh37	19	53050791	53050791	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	77	0	ENST00000359798.4:c.90T>C	p.Ala30=	p.A30=	ENST00000359798	NM_001039886.3	30	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46167.1	90	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTATAGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000352846	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000359798	Transcript	.	.	ENSG00000198482	33230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,synonymous_variant,p.%3D,ENST00000461321,;ZNF808,synonymous_variant,p.%3D,ENST00000359798,;ZNF808,synonymous_variant,p.%3D,ENST00000465448,;ZNF808,synonymous_variant,p.%3D,ENST00000461779,;ZNF808,intron_variant,,ENST00000486474,;ZNF808,intron_variant,,ENST00000487863,;	270	77	107	SUCCESS
VN1R2	317701	.	GRCh37	19	53762581	53762581	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	150	0	ENST00000341702.3:c.953T>A	p.Leu318His	p.L318H	ENST00000341702	NM_173856.2	318	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS12862.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTTGCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,missense_variant,p.Leu318His,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;VN1R2,non_coding_transcript_exon_variant,,ENST00000598458,;ZNF677,upstream_gene_variant,,ENST00000595293,;	1037	150	124	SUCCESS
MUC16	94025	.	GRCh37	19	9068492	9068492	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	50	82	0	ENST00000397910.4:c.18954T>A	p.Thr6318=	p.T6318=	ENST00000397910	NM_024690.2	6318	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54212.1	18954	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACAGTAAA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	19158	82	128	SUCCESS
OR1M1	125963	.	GRCh37	19	9204033	9204033	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	12	69	0	ENST00000429566.3:c.113T>A	p.Met38Lys	p.M38K	ENST00000429566	NM_001004456.1	38	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS32896.1	113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATGGTCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000401966	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000429566	Transcript	.	.	ENSG00000170929	8220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0)	.	OR1M1_HUMAN	OR1M1	HGNC	.	.	UPI0000041C29	SNV	OR1M1,missense_variant,p.Met38Lys,ENST00000429566,;	179	69	89	SUCCESS
PTPN22	26191	.	GRCh37	1	114372603	114372603	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	45	195	0	ENST00000359785.5:c.2102C>G	p.Thr701Ser	p.T701S	ENST00000359785	NM_015967.5	701	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS863.1	2102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGAGTTCTT	NONE	.	.	PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Thr646Ser,ENST00000528414,;PTPN22,missense_variant,p.Thr701Ser,ENST00000420377,;PTPN22,missense_variant,p.Thr701Ser,ENST00000359785,;PTPN22,missense_variant,p.Thr574Ser,ENST00000525799,;PTPN22,missense_variant,p.Thr457Ser,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;RP5-1073O3.2,downstream_gene_variant,,ENST00000448199,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,downstream_gene_variant,,ENST00000484147,;	2238	195	213	SUCCESS
IGSF3	3321	.	GRCh37	1	117122106	117122106	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1440941034	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	96	0	ENST00000369486.3:c.3242A>T	p.His1081Leu	p.H1081L	ENST00000369486	NM_001007237.2	1081	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS30814.1	3302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGGCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Gene3D:2.60.40.10,SMART_domains:SM00409	.	.	ENSP00000358495	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.16)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.His1101Leu,ENST00000318837,;IGSF3,missense_variant,p.His1081Leu,ENST00000369486,;IGSF3,missense_variant,p.His1101Leu,ENST00000369483,;	4007	96	86	SUCCESS
CCNL2	81669	.	GRCh37	1	1322755	1322755	+	synonymous_variant	Silent	SNP	T	T	C	rs776288996	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	65	0	ENST00000400809.3:c.1419A>G	p.Ser473=	p.S473=	ENST00000400809	NM_030937.4	473	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS30557.1	1419	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGTGACCT	NONE	byFrequency	.	PIRSF_domain:PIRSF036580,hmmpanther:PTHR10026:SF45,hmmpanther:PTHR10026,Low_complexity_(Seg):seg	.	.	ENSP00000383611	.	11/11	.	.	.	.	.	.	.	.	rs776288996	11/11	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,synonymous_variant,p.%3D,ENST00000400809,;CCNL2,synonymous_variant,p.%3D,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000408918,;CCNL2,non_coding_transcript_exon_variant,,ENST00000505849,;CCNL2,downstream_gene_variant,,ENST00000471930,;CCNL2,downstream_gene_variant,,ENST00000469113,;CCNL2,3_prime_UTR_variant,,ENST00000481223,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,3_prime_UTR_variant,,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000463260,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480479,;CCNL2,non_coding_transcript_exon_variant,,ENST00000418865,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,non_coding_transcript_exon_variant,,ENST00000482365,;CCNL2,downstream_gene_variant,,ENST00000480646,;CCNL2,downstream_gene_variant,,ENST00000492998,;	1425	65	58	SUCCESS
SSR2	6746	.	GRCh37	1	155989929	155989929	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	25	87	0	ENST00000295702.4:c.30T>G	p.Ala10=	p.A10=	ENST00000295702	NM_003145.3	10	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS1126.1	30	RADIA|MUTECT|MUSE|VARSCANS	.	AATAGAGCCAA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12861,Pfam_domain:PF05753,PIRSF_domain:PIRSF016400	.	.	ENSP00000295702	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000295702	Transcript	.	.	ENSG00000163479	11324	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SSRB_HUMAN	SSR2	HGNC	E9PQI4_HUMAN,E9PQ05_HUMAN,B4DUJ9_HUMAN	.	UPI0000136002	SNV	SSR2,synonymous_variant,p.%3D,ENST00000496742,;SSR2,synonymous_variant,p.%3D,ENST00000531917,;SSR2,synonymous_variant,p.%3D,ENST00000295702,;SSR2,synonymous_variant,p.%3D,ENST00000526212,;SSR2,synonymous_variant,p.%3D,ENST00000480567,;SSR2,synonymous_variant,p.%3D,ENST00000529008,;SSR2,synonymous_variant,p.%3D,ENST00000473699,;SSR2,synonymous_variant,p.%3D,ENST00000531790,;SSR2,synonymous_variant,p.%3D,ENST00000474377,;SSR2,synonymous_variant,p.%3D,ENST00000466905,;SSR2,non_coding_transcript_exon_variant,,ENST00000484320,;SSR2,non_coding_transcript_exon_variant,,ENST00000467041,;SSR2,non_coding_transcript_exon_variant,,ENST00000488179,;SSR2,non_coding_transcript_exon_variant,,ENST00000532074,;SSR2,non_coding_transcript_exon_variant,,ENST00000480176,;SSR2,non_coding_transcript_exon_variant,,ENST00000368311,;SSR2,non_coding_transcript_exon_variant,,ENST00000472898,;	102	87	166	SUCCESS
C1orf61	0	.	GRCh37	1	156384479	156384479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	66	0	ENST00000368243.1:c.138A>T	p.Arg46Ser	p.R46S	ENST00000368243	NM_006365.1	46	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS1142.1	138	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTCTATC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357226	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000368243	Transcript	.	.	ENSG00000125462	30780	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.096)	.	deleterious_low_confidence(0.01)	.	CROC4_HUMAN	C1orf61	HGNC	.	.	UPI000006E362	SNV	C1orf61,missense_variant,p.Arg59Ser,ENST00000357975,;C1orf61,missense_variant,p.Arg46Ser,ENST00000368243,;C1orf61,missense_variant,p.Arg60Ser,ENST00000310027,;C1orf61,missense_variant,p.Arg78Ser,ENST00000368242,;C1orf61,intron_variant,,ENST00000400991,;C1orf61,non_coding_transcript_exon_variant,,ENST00000489877,;C1orf61,non_coding_transcript_exon_variant,,ENST00000484428,;C1orf61,non_coding_transcript_exon_variant,,ENST00000497824,;C1orf61,non_coding_transcript_exon_variant,,ENST00000462458,;C1orf61,non_coding_transcript_exon_variant,,ENST00000486517,;C1orf61,non_coding_transcript_exon_variant,,ENST00000471156,;C1orf61,non_coding_transcript_exon_variant,,ENST00000463309,;C1orf61,non_coding_transcript_exon_variant,,ENST00000482932,;C1orf61,non_coding_transcript_exon_variant,,ENST00000497822,;C1orf61,non_coding_transcript_exon_variant,,ENST00000476966,;C1orf61,non_coding_transcript_exon_variant,,ENST00000464203,;C1orf61,intron_variant,,ENST00000492750,;C1orf61,intron_variant,,ENST00000465270,;C1orf61,intron_variant,,ENST00000489918,;C1orf61,upstream_gene_variant,,ENST00000464238,;C1orf61,upstream_gene_variant,,ENST00000465570,;C1orf61,non_coding_transcript_exon_variant,,ENST00000608007,;	255	66	103	SUCCESS
KCNJ10	3766	.	GRCh37	1	160011571	160011571	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	24	103	1	ENST00000368089.3:c.752T>C	p.Leu251Pro	p.L251P	ENST00000368089	NM_002241.4	251	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1193.1	752	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTAGAATA	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF21,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000357068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368089	Transcript	.	.	ENSG00000177807	6256	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.08)	.	IRK10_HUMAN	KCNJ10	HGNC	Q9BXC5_HUMAN	.	UPI000012D8A6	SNV	KCNJ10,missense_variant,p.Leu251Pro,ENST00000368089,;KCNJ10,intron_variant,,ENST00000509700,;	979	104	189	SUCCESS
FCRLB	127943	.	GRCh37	1	161697120	161697120	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	144	118	0	ENST00000367948.2:c.949A>T	p.Arg317Ter	p.R317*	ENST00000367948		317	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS30927.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCAGAAAG	NONE	.	.	hmmpanther:PTHR11481:SF46,hmmpanther:PTHR11481	.	.	ENSP00000356925	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367948	Transcript	.	.	ENSG00000162746	26431	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRLB_HUMAN	FCRLB	HGNC	.	.	UPI00003FF782	SNV	FCRLB,stop_gained,p.Arg317Ter,ENST00000367948,;FCRLB,stop_gained,p.Arg317Ter,ENST00000392158,;FCRLB,synonymous_variant,p.%3D,ENST00000367946,;FCRLB,synonymous_variant,p.%3D,ENST00000367945,;FCRLB,3_prime_UTR_variant,,ENST00000367944,;FCRLB,3_prime_UTR_variant,,ENST00000336830,;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;	1164	118	228	SUCCESS
KIFAP3	22920	.	GRCh37	1	170001030	170001030	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	104	87	0	ENST00000361580.2:c.838C>T	p.Arg280Ter	p.R280*	ENST00000361580	NM_014970.3	280	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1288.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGTAATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15605,Pfam_domain:PF05804,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354560	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000361580	Transcript	.	.	ENSG00000075945	17060	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIFA3_HUMAN	KIFAP3	HGNC	B7Z7E7_HUMAN	.	UPI000006CD6C	SNV	KIFAP3,stop_gained,p.Arg280Ter,ENST00000361580,;KIFAP3,stop_gained,p.Arg202Ter,ENST00000538366,;KIFAP3,stop_gained,p.Arg240Ter,ENST00000367765,;KIFAP3,stop_gained,p.Arg236Ter,ENST00000367767,;KIFAP3,non_coding_transcript_exon_variant,,ENST00000474292,;KIFAP3,downstream_gene_variant,,ENST00000490550,;	1066	87	165	SUCCESS
FMO1	2326	.	GRCh37	1	171236812	171236812	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	81	84	0	ENST00000354841.4:c.263T>A	p.Leu88Gln	p.L88Q	ENST00000354841	NM_001282692.1	88	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1294.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCTGGAAT	NONE	.	.	hmmpanther:PTHR23023:SF57,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Superfamily_domains:SSF51905,Prints_domain:PR00370,Prints_domain:PR01121	.	.	ENSP00000346901	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000354841	Transcript	.	.	ENSG00000010932	3769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	tolerated(0.27)	.	FMO1_HUMAN	FMO1	HGNC	Q5QPT3_HUMAN	.	UPI000000DBBA	SNV	FMO1,missense_variant,p.Leu88Gln,ENST00000354841,;FMO1,missense_variant,p.Leu88Gln,ENST00000367750,;FMO1,missense_variant,p.Leu88Gln,ENST00000433267,;FMO1,intron_variant,,ENST00000402921,;FMO1,non_coding_transcript_exon_variant,,ENST00000469112,;FMO1,non_coding_transcript_exon_variant,,ENST00000459868,;HMGB1P11,downstream_gene_variant,,ENST00000413899,;	394	84	139	SUCCESS
CACNA1E	777	.	GRCh37	1	181767884	181767884	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762766720	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	19	63	0	ENST00000367573.2:c.6856C>T	p.Arg2286Trp	p.R2286W	ENST00000367573	NM_001205293.1	2286	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS55664.1	6856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGGAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000356545	.	48/48	.	.	.	.	.	.	.	.	rs762766720,COSM159695	48/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.919)	.	tolerated(0.08)	0,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Arg2175Trp,ENST00000358338,;CACNA1E,missense_variant,p.Arg1850Trp,ENST00000367567,;CACNA1E,missense_variant,p.Arg2237Trp,ENST00000357570,;CACNA1E,missense_variant,p.Arg2267Trp,ENST00000360108,;CACNA1E,missense_variant,p.Arg2224Trp,ENST00000526775,;CACNA1E,missense_variant,p.Arg2286Trp,ENST00000367573,;CACNA1E,missense_variant,p.Arg2243Trp,ENST00000367570,;	6856	63	89	SUCCESS
PRG4	10216	.	GRCh37	1	186266079	186266079	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	64	85	0	ENST00000445192.2:c.72T>G	p.Ser24=	p.S24=	ENST00000445192	NM_005807.3	24	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1369.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTCAAGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1	.	.	ENSP00000399679	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,synonymous_variant,p.%3D,ENST00000367485,;PRG4,synonymous_variant,p.%3D,ENST00000533951,;PRG4,synonymous_variant,p.%3D,ENST00000367482,;PRG4,synonymous_variant,p.%3D,ENST00000367484,;PRG4,synonymous_variant,p.%3D,ENST00000367486,;PRG4,synonymous_variant,p.%3D,ENST00000445192,;PRG4,synonymous_variant,p.%3D,ENST00000367483,;	117	85	120	SUCCESS
PLXNA2	5362	.	GRCh37	1	208212331	208212331	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	31	84	0	ENST00000367033.3:c.4501-2A>T		p.X1501_splice	ENST00000367033	NM_025179.3	1501		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31013.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGATCTACAAG	NONE	.	.	.	.	.	ENSP00000356000	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	HIGH	24/31	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,splice_acceptor_variant,,ENST00000367033,;PLXNA2,splice_acceptor_variant,,ENST00000463510,;	.	84	184	SUCCESS
PTPN14	5784	.	GRCh37	1	214538000	214538000	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	76	87	0	ENST00000366956.5:c.3290A>G	p.Gln1097Arg	p.Q1097R	ENST00000366956	NM_005401.4	1097	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS1514.1	3290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACTGGATC	NONE	.	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000934,SMART_domains:SM00194,SMART_domains:SM00404,Gene3D:3.90.190.10,Pfam_domain:PF00102,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056	.	.	ENSP00000355923	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0.03)	.	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Gln1097Arg,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	3485	87	176	SUCCESS
CENPF	1063	.	GRCh37	1	214814497	214814497	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	408	462	402	1	ENST00000366955.3:c.2816A>T	p.Asp939Val	p.D939V	ENST00000366955	NM_016343.3	939	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31023.1	2816	RADIA|VARSCANS	.	TGAAGACTCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.387)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Asp939Val,ENST00000366955,;	2984	404	870	SUCCESS
CENPF	1063	.	GRCh37	1	214815369	214815370	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	724	372	361	0	ENST00000366955.3:c.3690_3691del	p.Lys1231GlyfsTer6	p.K1231Gfs*6	ENST00000366955	NM_016343.3	1230	GAg/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS31023.1	3688-3689	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAAGGAGAAGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	deletion	CENPF,frameshift_variant,p.Lys1231GlyfsTer6,ENST00000366955,;	3856-3857	361	1096	SUCCESS
WNT4	54361	.	GRCh37	1	22469431	22469431	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	85	239	0	ENST00000290167.6:c.-16C>T		p.*6*	ENST00000290167	NM_030761.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS223.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCCCGG	NONE	.	.	.	.	.	ENSP00000290167	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000290167	Transcript	.	.	ENSG00000162552	12783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT4_HUMAN	WNT4	HGNC	B4DJF9_HUMAN	.	UPI0000048EC6	SNV	WNT4,5_prime_UTR_variant,,ENST00000290167,;WNT4,intron_variant,,ENST00000441048,;WNT4,intron_variant,,ENST00000542383,;	29	239	238	SUCCESS
NUP133	55746	.	GRCh37	1	229584906	229584906	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	51	0	ENST00000261396.3:c.3212T>C	p.Leu1071Pro	p.L1071P	ENST00000261396	NM_018230.2	1071	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1579.1	3212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGTTTT	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Leu1055Pro,ENST00000537506,;NUP133,missense_variant,p.Leu1071Pro,ENST00000261396,;NUP133,non_coding_transcript_exon_variant,,ENST00000485119,;NUP133,non_coding_transcript_exon_variant,,ENST00000490352,;	3304	51	88	SUCCESS
ENO1P1	2025	.	GRCh37	1	236646811	236646811	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	34	0	ENST00000366587.4:n.347T>A		p.*116*	ENST00000366587				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1610.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCTCGCTG	NONE	.	819	.	.	.	ENSP00000335076	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334232	Transcript	.	.	ENSG00000186197	14341	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDAD_HUMAN	EDARADD	HGNC	B1AL55_HUMAN	.	UPI0000456324	SNV	EDARADD,3_prime_UTR_variant,,ENST00000359362,;EDARADD,downstream_gene_variant,,ENST00000334232,;EDARADD,downstream_gene_variant,,ENST00000439430,;ENO1P1,non_coding_transcript_exon_variant,,ENST00000366587,;	.	34	78	SUCCESS
SDC3	9672	.	GRCh37	1	31350007	31350007	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1472287835	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	49	146	0	ENST00000339394.6:c.262G>A	p.Glu88Lys	p.E88K	ENST00000339394	NM_014654.3	88	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS30661.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCGAAGT	NONE	.	.	hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF7	.	.	ENSP00000344468	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000339394	Transcript	.	.	ENSG00000162512	10660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	SDC3_HUMAN	SDC3	HGNC	.	.	UPI000045619B	SNV	SDC3,missense_variant,p.Glu30Lys,ENST00000336798,;SDC3,missense_variant,p.Glu88Lys,ENST00000339394,;SDC3,non_coding_transcript_exon_variant,,ENST00000471567,;SDC3,downstream_gene_variant,,ENST00000487984,;	437	147	180	SUCCESS
COL16A1	1307	.	GRCh37	1	32163575	32163575	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	13	143	0	ENST00000373672.3:c.589C>T	p.Arg197Ter	p.R197*	ENST00000373672	NM_001856.3	197	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS41297.1	589	MUTECT|MUSE|VARSCANS	.	TCGTCGGGGCC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000362776	.	6/71	.	.	.	.	.	.	.	.	.	6/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,stop_gained,p.Arg197Ter,ENST00000373672,;COL16A1,stop_gained,p.Arg197Ter,ENST00000373668,;COL16A1,stop_gained,p.Arg197Ter,ENST00000271069,;COL16A1,upstream_gene_variant,,ENST00000373667,;COL16A1,downstream_gene_variant,,ENST00000532877,;	1106	143	146	SUCCESS
BAI2	0	.	GRCh37	1	32222105	32222105	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	44	143	0	ENST00000373658.3:c.333G>T	p.Arg111=	p.R111=	ENST00000373658	NM_001703.2	111	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS346.2	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGCCGCAG	NONE	.	.	.	.	.	ENSP00000362762	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,synonymous_variant,p.%3D,ENST00000398538,;BAI2,synonymous_variant,p.%3D,ENST00000373658,;BAI2,synonymous_variant,p.%3D,ENST00000533175,;BAI2,synonymous_variant,p.%3D,ENST00000398547,;BAI2,synonymous_variant,p.%3D,ENST00000420125,;BAI2,synonymous_variant,p.%3D,ENST00000527361,;BAI2,synonymous_variant,p.%3D,ENST00000398556,;BAI2,synonymous_variant,p.%3D,ENST00000257070,;BAI2,synonymous_variant,p.%3D,ENST00000398542,;BAI2,synonymous_variant,p.%3D,ENST00000373655,;BAI2,downstream_gene_variant,,ENST00000436464,;MIR4254,downstream_gene_variant,,ENST00000581063,;BAI2,upstream_gene_variant,,ENST00000473952,;BAI2,upstream_gene_variant,,ENST00000530134,;	675	143	153	SUCCESS
MFSD2A	84879	.	GRCh37	1	40431684	40431684	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	35	133	0	ENST00000372809.5:c.751A>G	p.Thr251Ala	p.T251A	ENST00000372809	NM_001136493.1	251	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS44118.1	751	RADIA|MUTECT|MUSE	.	GGGAAACGGTG	NONE	.	.	Gene3D:1.20.1250.20,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29	.	.	ENSP00000361895	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000372809	Transcript	.	.	ENSG00000168389	25897	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.491)	.	tolerated(0.37)	.	MFS2A_HUMAN	MFSD2A	HGNC	Q71RE4_HUMAN,E7EPI8_HUMAN	.	UPI0000072562	SNV	MFSD2A,missense_variant,p.Thr238Ala,ENST00000372811,;MFSD2A,missense_variant,p.Thr82Ala,ENST00000420632,;MFSD2A,missense_variant,p.Thr236Ala,ENST00000434861,;MFSD2A,missense_variant,p.Thr251Ala,ENST00000372809,;MFSD2A,splice_region_variant,,ENST00000480630,;MFSD2A,splice_region_variant,,ENST00000469745,;MFSD2A,splice_region_variant,,ENST00000483824,;MFSD2A,upstream_gene_variant,,ENST00000459917,;MFSD2A,upstream_gene_variant,,ENST00000481612,;MFSD2A,upstream_gene_variant,,ENST00000491515,;RP3-342P20.2,downstream_gene_variant,,ENST00000438210,;	894	133	132	SUCCESS
FOXD3	27022	.	GRCh37	1	63789072	63789072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746549793	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	47	0	ENST00000371116.2:c.343G>A	p.Ala115Thr	p.A115T	ENST00000371116	NM_012183.2	115	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS624.1	343	MUTECT|MUSE	.	GCGGCGCGAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF121,hmmpanther:PTHR11829	.	.	ENSP00000360157	.	1/1	.	.	.	.	.	.	.	.	rs746549793	1/1	PASS	ENST00000371116	Transcript	.	.	ENSG00000187140	3804	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.64)	.	FOXD3_HUMAN	FOXD3	HGNC	.	.	UPI000012ADCB	SNV	FOXD3,missense_variant,p.Ala115Thr,ENST00000371116,;RP4-792G4.2,intron_variant,,ENST00000431294,;RP4-792G4.2,intron_variant,,ENST00000427268,;RP4-792G4.2,upstream_gene_variant,,ENST00000418244,;RP4-792G4.2,upstream_gene_variant,,ENST00000449386,;RP4-792G4.2,upstream_gene_variant,,ENST00000426393,;	343	47	44	SUCCESS
PHF13	148479	.	GRCh37	1	6673929	6673929	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	26	0	ENST00000377648.4:c.-198T>A		p.*66*	ENST00000377648	NM_153812.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS85.1	.	MUTECT|MUSE	.	TCCGGTCGGCG	NONE	.	.	.	.	.	ENSP00000366876	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377648	Transcript	.	.	ENSG00000116273	22983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHF13_HUMAN	PHF13	HGNC	.	.	UPI000013C9BF	SNV	PHF13,5_prime_UTR_variant,,ENST00000377648,;KLHL21,intron_variant,,ENST00000463043,;KLHL21,intron_variant,,ENST00000467612,;PHF13,non_coding_transcript_exon_variant,,ENST00000495385,;	185	26	18	SUCCESS
PHF13	148479	.	GRCh37	1	6673930	6673930	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	26	0	ENST00000377648.4:c.-197C>A		p.*66*	ENST00000377648	NM_153812.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS85.1	.	MUTECT|MUSE	.	CCGGTCGGCGG	NONE	.	.	.	.	.	ENSP00000366876	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377648	Transcript	.	.	ENSG00000116273	22983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHF13_HUMAN	PHF13	HGNC	.	.	UPI000013C9BF	SNV	PHF13,5_prime_UTR_variant,,ENST00000377648,;KLHL21,intron_variant,,ENST00000463043,;KLHL21,intron_variant,,ENST00000467612,;PHF13,non_coding_transcript_exon_variant,,ENST00000495385,;	186	26	19	SUCCESS
THAP3	90326	.	GRCh37	1	6685353	6685353	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	67	0	ENST00000054650.4:c.74+1G>T		p.X25_splice	ENST00000054650	NM_001195753.1	25		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55572.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGGTAAGA	NONE	.	.	.	.	.	ENSP00000054650	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000054650	Transcript	.	.	ENSG00000041988	20855	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THAP3_HUMAN	THAP3	HGNC	.	.	UPI000006CFCA	SNV	THAP3,splice_donor_variant,,ENST00000307896,;THAP3,splice_donor_variant,,ENST00000054650,;THAP3,splice_donor_variant,,ENST00000472925,;THAP3,splice_donor_variant,,ENST00000377627,;PHF13,downstream_gene_variant,,ENST00000377648,;THAP3,splice_donor_variant,,ENST00000484676,;THAP3,splice_donor_variant,,ENST00000484669,;PHF13,downstream_gene_variant,,ENST00000495385,;THAP3,splice_donor_variant,,ENST00000487819,;THAP3,upstream_gene_variant,,ENST00000480647,;	.	67	50	SUCCESS
LRRC40	55631	.	GRCh37	1	70625121	70625121	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	287	106	422	1	ENST00000370952.3:c.1112A>T	p.Asp371Val	p.D371V	ENST00000370952	NM_017768.4	371	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS646.1	1112	RADIA|VARSCANS	.	CATCATCTGGC	NONE	.	.	hmmpanther:PTHR23155:SF424,hmmpanther:PTHR23155	.	.	ENSP00000359990	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370952	Transcript	.	.	ENSG00000066557	26004	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	LRC40_HUMAN	LRRC40	HGNC	.	.	UPI000004A0A0	SNV	LRRC40,missense_variant,p.Asp371Val,ENST00000370952,;	1192	424	393	SUCCESS
SIRPB1	10326	.	GRCh37	20	1551730	1551730	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	74	137	0	ENST00000381605.4:c.805A>G	p.Asn269Asp	p.N269D	ENST00000381605	NM_006065.3	269	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS13019.1	805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTTTGCCT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,SMART_domains:SM00409,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	.	.	ENSP00000371018	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000381605	Transcript	.	.	ENSG00000101307	15928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.845)	.	deleterious(0.02)	.	SIRB1_HUMAN	SIRPB1	HGNC	.	.	UPI000036700F	SNV	SIRPB1,missense_variant,p.Asn269Asp,ENST00000381605,;SIRPB1,missense_variant,p.Asn83Asp,ENST00000565076,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,intron_variant,,ENST00000567028,;SIRPB1,intron_variant,,ENST00000262929,;SIRPB1,intron_variant,,ENST00000563840,;SIRPB1,intron_variant,,ENST00000381603,;SIRPB1,intron_variant,,ENST00000569629,;	870	137	177	SUCCESS
CEP250	11190	.	GRCh37	20	34092199	34092199	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	37	72	0	ENST00000397527.1:c.6002T>A	p.Leu2001Gln	p.L2001Q	ENST00000397527	NM_007186.3	2001	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13255.1	6002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCTGCAAG	NONE	.	.	hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	.	ENSP00000380661	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Leu489Gln,ENST00000422671,;CEP250,missense_variant,p.Leu1945Gln,ENST00000342580,;CEP250,missense_variant,p.Leu2001Gln,ENST00000397527,;CEP250,downstream_gene_variant,,ENST00000425525,;	6722	72	84	SUCCESS
TTI1	9675	.	GRCh37	20	36642114	36642114	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	50	81	0	ENST00000373447.3:c.105A>T	p.Thr35=	p.T35=	ENST00000373447		35	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13300.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCGTGTCTG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460	.	.	ENSP00000362547	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000373448	Transcript	.	.	ENSG00000101407	29029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTI1_HUMAN	TTI1	HGNC	D6W4K3_HUMAN	.	UPI000012DB27	SNV	TTI1,synonymous_variant,p.%3D,ENST00000449821,;TTI1,synonymous_variant,p.%3D,ENST00000373447,;TTI1,synonymous_variant,p.%3D,ENST00000373448,;TTI1,non_coding_transcript_exon_variant,,ENST00000487362,;	344	81	107	SUCCESS
SYS1	90196	.	GRCh37	20	43995718	43995718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	47	109	0	ENST00000243918.5:c.434A>T	p.Glu145Val	p.E145V	ENST00000243918	NM_033542.3	145	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13351.1	434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGAGATAC	NONE	.	.	hmmpanther:PTHR12952,hmmpanther:PTHR12952:SF2,Pfam_domain:PF09801,PIRSF_domain:PIRSF031402	.	.	ENSP00000243918	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243918	Transcript	.	.	ENSG00000204070	16162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	deleterious(0.04)	.	SYS1_HUMAN	SYS1	HGNC	Q5QPU8_HUMAN,E7ETM6_HUMAN	.	UPI00000721D5	SNV	SYS1,missense_variant,p.Glu145Val,ENST00000243918,;SYS1,missense_variant,p.Glu145Val,ENST00000372727,;SYS1,missense_variant,p.Glu124Val,ENST00000414310,;SYS1,intron_variant,,ENST00000426004,;SYS1,downstream_gene_variant,,ENST00000453003,;SYS1,non_coding_transcript_exon_variant,,ENST00000479779,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;SYS1,3_prime_UTR_variant,,ENST00000457307,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1,downstream_gene_variant,,ENST00000461890,;	725	109	124	SUCCESS
SLC12A5	57468	.	GRCh37	20	44665420	44665420	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	20	87	0	ENST00000454036.2:c.536A>G	p.Asn179Ser	p.N179S	ENST00000454036	NM_001134771.1	179	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46610.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGAATGGTG	BUFFER|p.T155T|c.465G>A|4	.	.	hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000387694	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,missense_variant,p.Asn156Ser,ENST00000372315,;SLC12A5,missense_variant,p.Asn179Ser,ENST00000454036,;SLC12A5,missense_variant,p.Asn105Ser,ENST00000608944,;SLC12A5,missense_variant,p.Asn156Ser,ENST00000243964,;SLC12A5,missense_variant,p.Asn156Ser,ENST00000539566,;	585	87	126	SUCCESS
SYCP2	10388	.	GRCh37	20	58441392	58441392	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs377589640	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	337	88	286	0	ENST00000357552.3:c.4276G>T	p.Glu1426Ter	p.E1426*	ENST00000357552		1426	Gaa/Taa	0	G:0	.	.	.	.	A	E/*	protein_coding	YES	CCDS13482.1	4276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCAAAAT	BUFFER|p.K1427K|c.4281A>G|5	byFrequency|byCluster	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	G:0.0001	ENSP00000350162	.	41/45	.	.	.	.	.	.	.	.	rs377589640,COSM724977	41/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,stop_gained,p.Glu112Ter,ENST00000412613,;SYCP2,stop_gained,p.Glu1426Ter,ENST00000357552,;SYCP2,stop_gained,p.Glu1426Ter,ENST00000371001,;	4502	286	426	SUCCESS
ZNF512B	57473	.	GRCh37	20	62595237	62595237	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752638241	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	37	0	ENST00000217130.3:c.1510A>G	p.Ile504Val	p.I504V	ENST00000217130		504	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13548.1	1510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATGGCCC	NONE	.	.	hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3,Superfamily_domains:SSF57667	.	.	ENSP00000393795	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0.02)	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	SNV	ZNF512B,missense_variant,p.Ile504Val,ENST00000450537,;ZNF512B,missense_variant,p.Ile504Val,ENST00000217130,;ZNF512B,missense_variant,p.Ile504Val,ENST00000369888,;	1571	37	51	SUCCESS
LINC00176	0	.	GRCh37	20	62669655	62669655	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	136	236	0	ENST00000444463.1:n.3777A>G		p.*1259*	ENST00000444463				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13548.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGTATC	NONE	.	.	.	.	.	ENSP00000393795	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODIFIER	1/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	SNV	ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,intron_variant,,ENST00000217130,;LINC00176,non_coding_transcript_exon_variant,,ENST00000358393,;LINC00176,non_coding_transcript_exon_variant,,ENST00000444463,;LINC00176,intron_variant,,ENST00000463337,;LINC00176,intron_variant,,ENST00000431158,;	.	236	318	SUCCESS
TPTE	7179	.	GRCh37	21	10921957	10921957	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	459	54	517	0	ENST00000361285.4:c.1066T>C	p.Ser356Pro	p.S356P	ENST00000361285	NM_199261.2	356	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS13560.2	1066	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGAGGCAA	NONE	.	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,Superfamily_domains:SSF52799	.	.	ENSP00000355208	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.866)	.	deleterious(0.01)	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Ser356Pro,ENST00000361285,;TPTE,missense_variant,p.Ser318Pro,ENST00000342420,;TPTE,missense_variant,p.Ser338Pro,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	1396	517	514	SUCCESS
KRTAP13-4	284827	.	GRCh37	21	31802679	31802679	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	107	0	ENST00000334068.2:c.86T>A	p.Leu29Gln	p.L29Q	ENST00000334068	NM_181600.1	29	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13592.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTGGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19051:SF10,hmmpanther:PTHR19051,Pfam_domain:PF05287	.	.	ENSP00000334834	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334068	Transcript	.	.	ENSG00000186971	18926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	KR134_HUMAN	KRTAP13-4	HGNC	.	.	UPI000003B46D	SNV	KRTAP13-4,missense_variant,p.Leu29Gln,ENST00000334068,;KRTAP13-3,upstream_gene_variant,,ENST00000390690,;	108	107	110	SUCCESS
DOPEY2	0	.	GRCh37	21	37537008	37537008	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	A	A	G	rs886715024	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	41	0	ENST00000399151.3:c.-24A>G		p.X8_splice	ENST00000399151	NM_005128.2	8		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13643.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATACTTTT	NONE	.	.	.	.	.	ENSP00000382104	.	2/37	.	.	.	.	.	.	.	.	.	2/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,splice_region_variant,,ENST00000270190,;DOPEY2,splice_region_variant,,ENST00000399151,;DOPEY2,upstream_gene_variant,,ENST00000492760,;RPL3P1,downstream_gene_variant,,ENST00000437106,;	62	41	64	SUCCESS
TMPRSS2	7113	.	GRCh37	21	42845270	42845270	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	95	0	ENST00000398585.3:c.992C>T	p.Ala331Val	p.A331V	ENST00000398585	NM_001135099.1	331	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS54486.1	992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGGCTGTC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF94,hmmpanther:PTHR24256,PROSITE_patterns:PS00134,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000381588	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000398585	Transcript	.	.	ENSG00000184012	11876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	TMPS2_HUMAN	TMPRSS2	HGNC	C9JKZ3_HUMAN,C9JB05_HUMAN	.	UPI00019D3EE0	SNV	TMPRSS2,missense_variant,p.Ala294Val,ENST00000454499,;TMPRSS2,missense_variant,p.Ala294Val,ENST00000458356,;TMPRSS2,missense_variant,p.Ala331Val,ENST00000398585,;TMPRSS2,missense_variant,p.Ala294Val,ENST00000332149,;TMPRSS2,downstream_gene_variant,,ENST00000424093,;TMPRSS2,upstream_gene_variant,,ENST00000469395,;	1053	95	104	SUCCESS
COL6A2	1292	.	GRCh37	21	47535813	47535813	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	65	0	ENST00000300527.4:c.829G>A	p.Gly277Arg	p.G277R	ENST00000300527	NM_001849.3	277	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS13728.1	829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGGAGAG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF119,Pfam_domain:PF01391	.	.	ENSP00000300527	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	SNV	COL6A2,missense_variant,p.Gly277Arg,ENST00000397763,;COL6A2,missense_variant,p.Gly277Arg,ENST00000310645,;COL6A2,missense_variant,p.Gly277Arg,ENST00000300527,;COL6A2,missense_variant,p.Gly277Arg,ENST00000357838,;COL6A2,missense_variant,p.Gly277Arg,ENST00000409416,;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000436769,;COL6A2,downstream_gene_variant,,ENST00000460886,;COL6A2,non_coding_transcript_exon_variant,,ENST00000485591,;	933	65	73	SUCCESS
SPECC1L	23384	.	GRCh37	22	24807640	24807640	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765624314	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	61	0	ENST00000314328.9:c.3172A>T	p.Ile1058Phe	p.I1058F	ENST00000314328	NM_015330.4	1058	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS33619.1	3172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACATTCCA	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000325785	.	15/17	.	.	.	.	.	.	.	.	rs765624314	15/17	PASS	ENST00000314328	Transcript	.	.	ENSG00000100014	29022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CYTSA_HUMAN	SPECC1L	HGNC	C9JLY8_HUMAN,C9J8U1_HUMAN	.	UPI00001B64E9	SNV	SPECC1L,missense_variant,p.Ile1058Phe,ENST00000314328,;SPECC1L,missense_variant,p.Ile1058Phe,ENST00000437398,;SPECC1L,intron_variant,,ENST00000541492,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;SPECC1L,upstream_gene_variant,,ENST00000472799,;	3457	61	56	SUCCESS
ADRBK2	0	.	GRCh37	22	26083502	26083502	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	65	0	ENST00000324198.6:c.827-2A>C		p.X276_splice	ENST00000324198	NM_005160.3	276		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13832.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCAGGGGG	NONE	.	.	.	.	.	ENSP00000317578	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324198	Transcript	.	.	ENSG00000100077	290	.	.	HIGH	10/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARBK2_HUMAN	ADRBK2	HGNC	Q8N433_HUMAN	.	UPI0000050EDB	SNV	ADRBK2,splice_acceptor_variant,,ENST00000324198,;ADRBK2,downstream_gene_variant,,ENST00000455558,;	.	65	70	SUCCESS
UXS1	80146	.	GRCh37	2	106761696	106761696	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	85	0	ENST00000409501.3:c.407A>G	p.Glu136Gly	p.E136G	ENST00000409501		136	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS58721.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTCATGT	NONE	.	.	hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF35,Gene3D:3.40.50.720,Pfam_domain:PF01370,Superfamily_domains:SSF51735	.	.	ENSP00000283148	.	6/15	.	.	.	.	.	.	.	.	COSM2150619,COSM2150618	6/15	PASS	ENST00000283148	Transcript	.	.	ENSG00000115652	17729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.928)	.	deleterious(0.01)	1,1	UXS1_HUMAN	UXS1	HGNC	Q8ND26_HUMAN,C9JW33_HUMAN,C9JFU6_HUMAN,C9JCB7_HUMAN,C9J3T9_HUMAN,B3KV61_HUMAN	.	UPI000003CA36	SNV	UXS1,missense_variant,p.Glu141Gly,ENST00000283148,;UXS1,missense_variant,p.Glu136Gly,ENST00000409501,;UXS1,missense_variant,p.Glu79Gly,ENST00000457835,;UXS1,missense_variant,p.Glu79Gly,ENST00000540130,;UXS1,5_prime_UTR_variant,,ENST00000444193,;UXS1,intron_variant,,ENST00000441952,;UXS1,intron_variant,,ENST00000428048,;UXS1,intron_variant,,ENST00000416298,;UXS1,non_coding_transcript_exon_variant,,ENST00000479774,;UXS1,non_coding_transcript_exon_variant,,ENST00000479621,;UXS1,downstream_gene_variant,,ENST00000483426,;	520	86	92	SUCCESS
RGPD4	285190	.	GRCh37	2	108453058	108453058	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	73	234	0	ENST00000408999.3:c.73A>C	p.Lys25Gln	p.K25Q	ENST00000408999	NM_182588.2	25	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS46381.1	73	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGAAGTCA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Gene3D:1.25.40.10	.	.	ENSP00000386810	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	tolerated(0.08)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Lys25Gln,ENST00000408999,;RGPD4,missense_variant,p.Lys25Gln,ENST00000354986,;	150	234	231	SUCCESS
CCDC74B	91409	.	GRCh37	2	130897154	130897154	+	synonymous_variant	Silent	SNP	G	G	T	rs546767071	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	40	174	0	ENST00000310463.6:c.1117C>A	p.Arg373=	p.R373=	ENST00000310463	NM_207310.2	373	Cgg/Agg	0	.	A:0	.	A:0.0014	.	T	R	protein_coding	YES	CCDS2155.1	1117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGTTTCT	NONE	by1000G	.	Pfam_domain:PF14917	A:0	.	ENSP00000308873	A:0	8/8	.	.	.	.	.	.	.	.	rs546767071	8/8	PASS	ENST00000310463	Transcript	.	A:0.0002	ENSG00000152076	25267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,synonymous_variant,p.%3D,ENST00000409943,;CCDC74B,synonymous_variant,p.%3D,ENST00000392984,;CCDC74B,synonymous_variant,p.%3D,ENST00000310463,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000498526,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,downstream_gene_variant,,ENST00000434929,;CCDC74B,downstream_gene_variant,,ENST00000423263,;MED15P9,downstream_gene_variant,,ENST00000424716,;	1255	174	152	SUCCESS
GALNT3	2591	.	GRCh37	2	166615986	166615986	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	27	119	0	ENST00000392701.3:c.933G>A	p.Leu311=	p.L311=	ENST00000392701	NM_004482.3	311	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2226.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCAGATC	NONE	.	.	hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	.	ENSP00000376465	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000392701	Transcript	.	.	ENSG00000115339	4125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT3_HUMAN	GALNT3	HGNC	C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN	.	UPI000013C989	SNV	GALNT3,synonymous_variant,p.%3D,ENST00000409882,;GALNT3,synonymous_variant,p.%3D,ENST00000412248,;GALNT3,synonymous_variant,p.%3D,ENST00000392701,;GALNT3,3_prime_UTR_variant,,ENST00000437849,;GALNT3,non_coding_transcript_exon_variant,,ENST00000463254,;	1709	119	124	SUCCESS
TTN	7273	.	GRCh37	2	179610419	179610419	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	116	0	ENST00000591111.1:c.10361-3771A>T		p.*3454*	ENST00000591111				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTTATGGA	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asn5570Tyr,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	.	116	100	SUCCESS
ZNF804A	91752	.	GRCh37	2	185801445	185801445	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	80	308	0	ENST00000302277.6:c.1322C>G	p.Ser441Ter	p.S441*	ENST00000302277	NM_194250.1	441	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS2291.1	1322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCAGAAA	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,stop_gained,p.Ser441Ter,ENST00000302277,;	1916	308	293	SUCCESS
ANKAR	150709	.	GRCh37	2	190611232	190611232	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	637	17	593	0	ENST00000313581.4:c.4184T>C	p.Ile1395Thr	p.I1395T	ENST00000313581		1395	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS33351.2	4184	MUTECT|MUSE	.	TAATATTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62	.	.	ENSP00000427882	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000520309	Transcript	.	.	ENSG00000151687	26350	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.44)	.	ANKAR_HUMAN	ANKAR	HGNC	J3KQB7_HUMAN	.	UPI00001D7E11	SNV	ANKAR,missense_variant,p.Ile1395Thr,ENST00000313581,;ANKAR,missense_variant,p.Ile1324Thr,ENST00000431575,;ANKAR,missense_variant,p.Ile1395Thr,ENST00000520309,;ANKAR,3_prime_UTR_variant,,ENST00000281412,;ANKAR,3_prime_UTR_variant,,ENST00000438402,;OSGEPL1,downstream_gene_variant,,ENST00000519810,;OSGEPL1,downstream_gene_variant,,ENST00000264151,;OSGEPL1,downstream_gene_variant,,ENST00000522700,;ANKAR,non_coding_transcript_exon_variant,,ENST00000474303,;ANKAR,intron_variant,,ENST00000476208,;ANKAR,3_prime_UTR_variant,,ENST00000433782,;ANKAR,intron_variant,,ENST00000441800,;OSGEPL1,downstream_gene_variant,,ENST00000524043,;	4272	593	654	SUCCESS
ORMDL1	94101	.	GRCh37	2	190647358	190647358	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	58	0	ENST00000325795.3:c.-37A>G		p.*13*	ENST00000325795				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACTGATAC	NONE	.	.	.	.	.	ENSP00000326869	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000325795	Transcript	.	.	ENSG00000128699	16036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ORML1_HUMAN	ORMDL1	HGNC	B9A069_HUMAN	.	UPI0000073E90	SNV	ORMDL1,5_prime_UTR_variant,,ENST00000458355,;ORMDL1,5_prime_UTR_variant,,ENST00000325795,;ORMDL1,intron_variant,,ENST00000392349,;ORMDL1,intron_variant,,ENST00000392350,;ORMDL1,intron_variant,,ENST00000442547,;ORMDL1,intron_variant,,ENST00000409519,;AC013468.1,upstream_gene_variant,,ENST00000424876,;PMS1,upstream_gene_variant,,ENST00000424766,;PMS1,upstream_gene_variant,,ENST00000446877,;PMS1,upstream_gene_variant,,ENST00000447232,;PMS1,upstream_gene_variant,,ENST00000409823,;PMS1,upstream_gene_variant,,ENST00000374826,;PMS1,upstream_gene_variant,,ENST00000441310,;PMS1,upstream_gene_variant,,ENST00000409985,;PMS1,upstream_gene_variant,,ENST00000432292,;PMS1,upstream_gene_variant,,ENST00000418224,;PMS1,upstream_gene_variant,,ENST00000421722,;PMS1,upstream_gene_variant,,ENST00000447734,;PMS1,upstream_gene_variant,,ENST00000342075,;PMS1,upstream_gene_variant,,ENST00000450931,;	751	58	54	SUCCESS
MYT1L	23040	.	GRCh37	2	1920989	1920989	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	83	0	ENST00000399161.2:c.1606G>A	p.Val536Ile	p.V536I	ENST00000399161	NM_015025.2	536	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS46222.1	1600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACCCTAT	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Superfamily_domains:0042508	.	.	ENSP00000396103	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated(0.5)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Val536Ile,ENST00000399161,;MYT1L,missense_variant,p.Val534Ile,ENST00000428368,;MYT1L,missense_variant,p.Val190Ile,ENST00000602387,;	2270	83	93	SUCCESS
UNC80	285175	.	GRCh37	2	210683819	210683819	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1435848024	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	32	138	0	ENST00000439458.1:c.1796T>C	p.Leu599Pro	p.L599P	ENST00000439458	NM_032504.1	599	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS46504.1	1796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACTCTGCA	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	12/64	.	.	.	.	.	.	.	.	.	12/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Leu599Pro,ENST00000439458,;UNC80,missense_variant,p.Leu599Pro,ENST00000272845,;	1876	138	152	SUCCESS
OBSL1	23363	.	GRCh37	2	220424039	220424039	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750084343	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	15	104	0	ENST00000404537.1:c.3134G>A	p.Arg1045His	p.R1045H	ENST00000404537	NM_015311.2	1045	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS46520.1	3134	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCGGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385636	.	9/21	.	.	.	.	.	.	.	.	rs750084343	9/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	tolerated(0.06)	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,missense_variant,p.Arg1045His,ENST00000603926,;OBSL1,missense_variant,p.Arg1045His,ENST00000373876,;OBSL1,missense_variant,p.Arg39His,ENST00000456147,;OBSL1,missense_variant,p.Arg98His,ENST00000604031,;OBSL1,missense_variant,p.Arg36His,ENST00000265317,;OBSL1,missense_variant,p.Arg1045His,ENST00000265318,;OBSL1,missense_variant,p.Arg1045His,ENST00000404537,;OBSL1,downstream_gene_variant,,ENST00000289656,;OBSL1,downstream_gene_variant,,ENST00000373873,;RP11-256I23.2,non_coding_transcript_exon_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000596474,;	3191	104	113	SUCCESS
FAM124B	79843	.	GRCh37	2	225244553	225244553	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775955255	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	115	0	ENST00000409685.3:c.1105A>T	p.Ile369Phe	p.I369F	ENST00000409685	NM_001122779.1	369	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS46527.1	1105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGATGGTCA	NONE	.	.	hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715	.	.	ENSP00000386895	.	2/2	.	.	.	.	.	.	.	.	rs775955255	2/2	PASS	ENST00000409685	Transcript	.	.	ENSG00000124019	26224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	deleterious(0)	.	F124B_HUMAN	FAM124B	HGNC	.	.	UPI00002096DA	SNV	FAM124B,missense_variant,p.Ile369Phe,ENST00000409685,;FAM124B,3_prime_UTR_variant,,ENST00000389874,;	1371	115	118	SUCCESS
SPHKAP	80309	.	GRCh37	2	228855727	228855727	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	61	0	ENST00000392056.3:c.4948A>G	p.Arg1650Gly	p.R1650G	ENST00000392056	NM_001142644.1	1650	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46537.1	4948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTGTTTT	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7,Pfam_domain:PF05716	.	.	ENSP00000375909	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.553)	.	deleterious(0)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Arg1621Gly,ENST00000344657,;SPHKAP,missense_variant,p.Arg1650Gly,ENST00000392056,;SPHKAP,non_coding_transcript_exon_variant,,ENST00000490603,;	4995	61	54	SUCCESS
ILKAP	80895	.	GRCh37	2	239079292	239079292	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	56	200	0	ENST00000254654.3:c.1064G>C	p.Gly355Ala	p.G355A	ENST00000254654	NM_030768.2	355	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS2526.1	1064	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCCTTCC	NONE	.	.	hmmpanther:PTHR13832:SF257,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000254654	.	12/12	.	.	.	.	.	.	.	.	COSM3839012	12/12	PASS	ENST00000254654	Transcript	.	.	ENSG00000132323	15566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.049)	.	tolerated(0.12)	1	ILKAP_HUMAN	ILKAP	HGNC	.	.	UPI000007307E	SNV	ILKAP,missense_variant,p.Gly355Ala,ENST00000254654,;ILKAP,3_prime_UTR_variant,,ENST00000450411,;FAM132B,downstream_gene_variant,,ENST00000357303,;FAM132B,downstream_gene_variant,,ENST00000344233,;FAM132B,downstream_gene_variant,,ENST00000546354,;ILKAP,non_coding_transcript_exon_variant,,ENST00000466468,;ILKAP,non_coding_transcript_exon_variant,,ENST00000465131,;ILKAP,non_coding_transcript_exon_variant,,ENST00000463129,;FAM132B,downstream_gene_variant,,ENST00000481917,;FAM132B,downstream_gene_variant,,ENST00000473274,;FAM132B,downstream_gene_variant,,ENST00000479091,;	1240	200	211	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43939487	43939487	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	18	79	0	ENST00000282406.4:c.2425G>A	p.Glu809Lys	p.E809K	ENST00000282406	NM_172069.3	809	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1812.1	2425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGAGGGC	NONE	.	.	hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000282406	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.06)	.	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Glu809Lys,ENST00000282406,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;	2535	79	96	SUCCESS
PREPL	9581	.	GRCh37	2	44559599	44559599	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	90	0	ENST00000260648.6:c.1352A>C	p.Lys451Thr	p.K451T	ENST00000260648	NM_006036.4	451	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33190.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCTTGCTT	NONE	.	.	hmmpanther:PTHR11757,hmmpanther:PTHR11757:SF3,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000386543	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000409936	Transcript	.	.	ENSG00000138078	30228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0.01)	.	PPCEL_HUMAN	PREPL	HGNC	C9JMT4_HUMAN	.	UPI0000208358	SNV	PREPL,missense_variant,p.Lys451Thr,ENST00000409936,;PREPL,missense_variant,p.Lys362Thr,ENST00000409957,;PREPL,missense_variant,p.Lys451Thr,ENST00000260648,;PREPL,missense_variant,p.Lys362Thr,ENST00000541738,;PREPL,missense_variant,p.Lys362Thr,ENST00000409411,;PREPL,missense_variant,p.Lys451Thr,ENST00000409272,;PREPL,missense_variant,p.Lys451Thr,ENST00000410081,;PREPL,missense_variant,p.Lys389Thr,ENST00000378511,;PREPL,intron_variant,,ENST00000378520,;PREPL,missense_variant,p.Lys451Thr,ENST00000425263,;PREPL,missense_variant,p.Lys451Thr,ENST00000426481,;	1790	90	88	SUCCESS
LHCGR	3973	.	GRCh37	2	48915582	48915582	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	93	0	ENST00000294954.7:c.1354C>A	p.Leu452Ile	p.L452I	ENST00000294954	NM_000233.3	452	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1842.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGTTCAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00373,Prints_domain:PR00237	.	.	ENSP00000294954	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,missense_variant,p.Leu425Ile,ENST00000405626,;LHCGR,missense_variant,p.Leu390Ile,ENST00000344775,;LHCGR,missense_variant,p.Leu452Ile,ENST00000294954,;LHCGR,3_prime_UTR_variant,,ENST00000403273,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,intron_variant,,ENST00000401907,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;	1376	93	97	SUCCESS
ALMS1	7840	.	GRCh37	2	73680950	73680950	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	39	152	0	ENST00000264448.6:c.7293A>T	p.Leu2431Phe	p.L2431F	ENST00000264448	NM_015120.4	2431	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS42697.1	7293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTACCAGA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,missense_variant,p.Leu2431Phe,ENST00000377715,;ALMS1,missense_variant,p.Leu2389Phe,ENST00000409009,;ALMS1,missense_variant,p.Leu2431Phe,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,missense_variant,p.Leu709Phe,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	7404	152	150	SUCCESS
EIF2AK3	9451	.	GRCh37	2	88887518	88887518	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764107317	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	574	173	735	0	ENST00000303236.3:c.1411A>G	p.Ile471Val	p.I471V	ENST00000303236	NM_004836.5	471	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33241.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATTGAAA	NONE	byFrequency	.	hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF38	.	.	ENSP00000307235	.	8/17	.	.	.	.	.	.	.	.	rs764107317	8/17	PASS	ENST00000303236	Transcript	.	.	ENSG00000172071	3255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	E2AK3_HUMAN	EIF2AK3	HGNC	E7ER02_HUMAN	.	UPI000013E87D	SNV	EIF2AK3,missense_variant,p.Ile320Val,ENST00000419748,;EIF2AK3,missense_variant,p.Ile471Val,ENST00000303236,;EIF2AK3,missense_variant,p.Ile350Val,ENST00000415570,;EIF2AK3,downstream_gene_variant,,ENST00000477083,;	1713	735	747	SUCCESS
IGKV3D-15	28875	.	GRCh37	2	90153982	90153982	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	76	0	ENST00000417279.2:c.69G>T	p.Val23=	p.V23=	ENST00000417279		23	gtG/gtT	0	.	.	.	.	.	T	V	IG_V_gene	YES	.	69	RADIA|SOMATICSNIPER|VARSCANS	.	ATAGTGATGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	.	.	ENSP00000403672	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417279	Transcript	.	.	ENSG00000224041	5824	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGKV3D-15	HGNC	.	.	UPI0000113B53	SNV	IGKV3D-15,synonymous_variant,p.%3D,ENST00000417279,;	118	76	77	SUCCESS
KIAA2018	0	.	GRCh37	3	113379342	113379342	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs779936572	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	51	0	ENST00000316407.4:c.1187del	p.Asn396MetfsTer19	p.N396Mfs*19	ENST00000316407	NM_001009899.2	396	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS43133.1	1187	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACCATTGTCC	NONE	byFrequency	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	rs779936572	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	deletion	KIAA2018,frameshift_variant,p.Asn396MetfsTer19,ENST00000478658,;KIAA2018,frameshift_variant,p.Asn396MetfsTer19,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	1598	51	74	SUCCESS
UPK1B	7348	.	GRCh37	3	118906777	118906777	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	115	0	ENST00000264234.3:c.225A>G	p.Leu75=	p.L75=	ENST00000264234	NM_006952.3	75	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS2985.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTAGGCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF24,hmmpanther:PTHR19282,Pfam_domain:PF00335,Prints_domain:PR00259	.	.	ENSP00000264234	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000264234	Transcript	.	.	ENSG00000114638	12578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UPK1B_HUMAN	UPK1B	HGNC	E7ETN9_HUMAN,C9J6N2_HUMAN,C9J027_HUMAN	.	UPI000013D4E8	SNV	UPK1B,synonymous_variant,p.%3D,ENST00000264234,;UPK1B,synonymous_variant,p.%3D,ENST00000494855,;UPK1B,synonymous_variant,p.%3D,ENST00000479520,;UPK1B,synonymous_variant,p.%3D,ENST00000460625,;UPK1B,5_prime_UTR_variant,,ENST00000497685,;RP11-484M3.5,downstream_gene_variant,,ENST00000490594,;	374	115	103	SUCCESS
KALRN	8997	.	GRCh37	3	124207122	124207122	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	22	119	0	ENST00000240874.3:c.4350A>G	p.Pro1450=	p.P1450=	ENST00000240874	NM_003947.4	1450	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3027.1	4350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCAAAGAA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000240874	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,synonymous_variant,p.%3D,ENST00000240874,;KALRN,synonymous_variant,p.%3D,ENST00000460856,;KALRN,synonymous_variant,p.%3D,ENST00000354186,;KALRN,synonymous_variant,p.%3D,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;KALRN,upstream_gene_variant,,ENST00000473056,;	4507	119	99	SUCCESS
CCDC37	0	.	GRCh37	3	126137512	126137512	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	80	0	ENST00000352312.1:c.545A>T	p.Glu182Val	p.E182V	ENST00000352312	NM_182628.2	182	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS3037.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGAGGAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21683:SF5,hmmpanther:PTHR21683,Pfam_domain:PF13863	.	.	ENSP00000344749	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000352312	Transcript	.	.	ENSG00000163885	26842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CCD37_HUMAN	CCDC37	HGNC	.	.	UPI000013E315	SNV	CCDC37,missense_variant,p.Glu183Val,ENST00000505024,;CCDC37,missense_variant,p.Glu183Val,ENST00000393425,;CCDC37,missense_variant,p.Glu182Val,ENST00000352312,;CCDC37,downstream_gene_variant,,ENST00000510833,;CCDC37,upstream_gene_variant,,ENST00000507830,;CCDC37,downstream_gene_variant,,ENST00000533201,;CCDC37,non_coding_transcript_exon_variant,,ENST00000503905,;	644	80	68	SUCCESS
GATA2	2624	.	GRCh37	3	128205213	128205213	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	47	0	ENST00000341105.2:c.230-2A>T		p.X77_splice	ENST00000341105	NM_032638.4	77		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3049.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCTGCGGG	NONE	.	.	.	.	.	ENSP00000345681	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341105	Transcript	.	.	ENSG00000179348	4171	.	.	HIGH	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATA2_HUMAN	GATA2	HGNC	C9J965_HUMAN	.	UPI00000730CD	SNV	GATA2,splice_acceptor_variant,,ENST00000492608,;GATA2,splice_acceptor_variant,,ENST00000487848,;GATA2,splice_acceptor_variant,,ENST00000341105,;GATA2,splice_acceptor_variant,,ENST00000430265,;GATA2,downstream_gene_variant,,ENST00000498200,;RP11-475N22.4,upstream_gene_variant,,ENST00000464242,;RP11-475N22.4,upstream_gene_variant,,ENST00000473958,;RP11-475N22.4,upstream_gene_variant,,ENST00000468377,;GATA2,upstream_gene_variant,,ENST00000489987,;	.	47	40	SUCCESS
PRR23A	729627	.	GRCh37	3	138724450	138724450	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	52	189	0	ENST00000383163.2:c.661C>T	p.Arg221Cys	p.R221C	ENST00000383163	NM_001134659.1	221	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS46923.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGGAATT	NONE	.	.	hmmpanther:PTHR31813:SF2,hmmpanther:PTHR31813,Pfam_domain:PF10630	.	.	ENSP00000372649	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383163	Transcript	.	.	ENSG00000206260	37172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.761)	.	deleterious(0)	.	PR23A_HUMAN	PRR23A	HGNC	.	.	UPI00003671C1	SNV	PRR23A,missense_variant,p.Arg221Cys,ENST00000383163,;MRPS22,upstream_gene_variant,,ENST00000495075,;	661	189	209	SUCCESS
PTX3	5806	.	GRCh37	3	157154712	157154712	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	54	0	ENST00000295927.3:c.-11T>A		p.*4*	ENST00000295927	NM_002852.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3180.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGTCTCTC	NONE	.	.	.	.	.	ENSP00000295927	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295927	Transcript	.	.	ENSG00000163661	9692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTX3_HUMAN	PTX3	HGNC	.	.	UPI000013E2D6	SNV	PTX3,5_prime_UTR_variant,,ENST00000295927,;VEPH1,intron_variant,,ENST00000362010,;VEPH1,intron_variant,,ENST00000392833,;VEPH1,intron_variant,,ENST00000392832,;VEPH1,intron_variant,,ENST00000543418,;VEPH1,intron_variant,,ENST00000479987,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482685,;	135	54	55	SUCCESS
OTOL1	131149	.	GRCh37	3	161221371	161221371	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1043177892	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	124	0	ENST00000327928.4:c.1075C>A	p.Pro359Thr	p.P359T	ENST00000327928	NM_001080440.1	359	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS46948.1	1075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCCCATC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF25,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000330808	.	4/4	.	.	.	.	.	.	.	.	COSM3427276	4/4	PASS	ENST00000327928	Transcript	.	.	ENSG00000182447	34071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	OTOL1_HUMAN	OTOL1	HGNC	.	.	UPI0000D61BA3	SNV	OTOL1,missense_variant,p.Pro359Thr,ENST00000327928,;	1075	124	113	SUCCESS
PIK3CA	5290	.	GRCh37	3	178916869	178916869	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	71	257	0	ENST00000263967.3:c.256A>T	p.Thr86Ser	p.T86S	ENST00000263967	NM_006218.2	86	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS43171.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAACAAGA	BUFFER|p.R88Q|c.263G>A|89,BUFFER|p.R88Q|c.263G>A|48	.	.	PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	.	.	ENSP00000263967	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.28)	.	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Thr86Ser,ENST00000468036,;PIK3CA,missense_variant,p.Thr86Ser,ENST00000263967,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	413	257	268	SUCCESS
MUC20	200958	.	GRCh37	3	195452788	195452788	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	40	271	0	ENST00000447234.2:c.1314G>T	p.Gly438=	p.G438=	ENST00000447234	NM_001282506.1	438	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS63877.1	1314	RADIA|MUTECT|MUSE	.	CCTGGGGCCTC	NONE	.	.	.	.	.	ENSP00000414350	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	SNV	MUC20,synonymous_variant,p.%3D,ENST00000445522,;MUC20,synonymous_variant,p.%3D,ENST00000447234,;MUC20,synonymous_variant,p.%3D,ENST00000320736,;MUC20,synonymous_variant,p.%3D,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000594976,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,upstream_gene_variant,,ENST00000498018,;	1440	271	226	SUCCESS
CMTM6	54918	.	GRCh37	3	32544113	32544113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	49	98	0	ENST00000205636.3:c.125A>T	p.Lys42Met	p.K42M	ENST00000205636	NM_017801.2	42	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS2653.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTTGAGA	NONE	.	.	Pfam_domain:PF01284,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF25,PROSITE_profiles:PS51225,Low_complexity_(Seg):seg	.	.	ENSP00000205636	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000205636	Transcript	.	.	ENSG00000091317	19177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	CKLF6_HUMAN	CMTM6	HGNC	.	.	UPI000004A0E5	SNV	CMTM6,missense_variant,p.Lys42Met,ENST00000205636,;CMTM6,non_coding_transcript_exon_variant,,ENST00000495177,;	788	98	146	SUCCESS
DLEC1	9940	.	GRCh37	3	38157966	38157966	+	synonymous_variant	Silent	SNP	C	C	T	rs761758368	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	56	0	ENST00000308059.6:c.3879C>T	p.Thr1293=	p.T1293=	ENST00000308059		1293	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2672.2	3879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCTATGT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	28/37	.	.	.	.	.	.	.	.	rs761758368	28/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,synonymous_variant,p.%3D,ENST00000308059,;DLEC1,synonymous_variant,p.%3D,ENST00000346219,;DLEC1,synonymous_variant,p.%3D,ENST00000452631,;ACAA1,intron_variant,,ENST00000451419,;DLEC1,downstream_gene_variant,,ENST00000477260,;DLEC1,upstream_gene_variant,,ENST00000478428,;	3900	56	62	SUCCESS
ULK4	54986	.	GRCh37	3	41977412	41977412	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	66	0	ENST00000301831.4:c.259A>C	p.Ile87Leu	p.I87L	ENST00000301831	NM_017886.2	87	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS43071.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAATAACTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000301831	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000301831	Transcript	.	.	ENSG00000168038	15784	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.252)	.	tolerated(0.18)	.	ULK4_HUMAN	ULK4	HGNC	B3KSE5_HUMAN	.	UPI0000E8267C	SNV	ULK4,missense_variant,p.Ile87Leu,ENST00000301831,;ULK4,missense_variant,p.Ile87Leu,ENST00000420927,;ULK4,downstream_gene_variant,,ENST00000414606,;ULK4,non_coding_transcript_exon_variant,,ENST00000459802,;ULK4,3_prime_UTR_variant,,ENST00000431379,;ULK4,3_prime_UTR_variant,,ENST00000453224,;ULK4,non_coding_transcript_exon_variant,,ENST00000497684,;ULK4,downstream_gene_variant,,ENST00000460978,;	722	66	82	SUCCESS
TGM4	7047	.	GRCh37	3	44938212	44938212	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs142027211	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	81	0	ENST00000296125.4:c.561T>A	p.Asn187Lys	p.N187K	ENST00000296125	NM_003241.3	187	aaT/aaA	0	A:0.0002	.	.	.	.	A	N/K	protein_coding	YES	CCDS2723.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATGTCCT	NONE	byCluster	.	hmmpanther:PTHR11590:SF11,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	A:0.0001	ENSP00000296125	.	6/14	.	.	.	.	.	.	.	.	rs142027211	6/14	PASS	ENST00000296125	Transcript	.	.	ENSG00000163810	11780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.31)	.	TGM4_HUMAN	TGM4	HGNC	Q9UBL5_HUMAN	.	UPI0000136CCD	SNV	TGM4,missense_variant,p.Asn187Lys,ENST00000296125,;RP11-272D20.2,upstream_gene_variant,,ENST00000427258,;TGM4,3_prime_UTR_variant,,ENST00000422219,;TGM4,non_coding_transcript_exon_variant,,ENST00000495844,;	629	81	84	SUCCESS
NME6	10201	.	GRCh37	3	48336594	48336595	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	93	30	118	0	ENST00000415053.1:c.364_365del	p.Thr122Ter	p.T122*	ENST00000415053		122	ACt/t	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS2763.1	388-389	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGTCAGTGAGGC	NONE	.	.	hmmpanther:PTHR11349,Pfam_domain:PF00334,Gene3D:3.30.70.141,SMART_domains:SM00562,Superfamily_domains:SSF54919	.	.	ENSP00000416658	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000421967	Transcript	.	.	ENSG00000172113	20567	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDK6_HUMAN	NME6	HGNC	C9JQB1_HUMAN,C9J9V6_HUMAN,C9J1J2_HUMAN	.	UPI000015C21F	deletion	NME6,frameshift_variant,p.Leu109AspfsTer65,ENST00000450160,;NME6,frameshift_variant,p.Thr122Ter,ENST00000442597,;NME6,frameshift_variant,p.Leu109AspfsTer?,ENST00000435684,;NME6,frameshift_variant,p.Thr122Ter,ENST00000452211,;NME6,frameshift_variant,p.Leu109AspfsTer65,ENST00000451657,;NME6,frameshift_variant,p.Thr122Ter,ENST00000415053,;NME6,frameshift_variant,p.Thr122Ter,ENST00000426689,;NME6,frameshift_variant,p.Thr77Ter,ENST00000447314,;NME6,frameshift_variant,p.Thr130Ter,ENST00000421967,;NME6,frameshift_variant,p.Thr122Ter,ENST00000425930,;ZNF589,intron_variant,,ENST00000412564,;NME6,intron_variant,,ENST00000426723,;NME6,intron_variant,,ENST00000415644,;NME6,downstream_gene_variant,,ENST00000456495,;NME6,downstream_gene_variant,,ENST00000447724,;NME6,non_coding_transcript_exon_variant,,ENST00000444069,;NME6,3_prime_UTR_variant,,ENST00000418431,;NME6,downstream_gene_variant,,ENST00000302378,;NME6,downstream_gene_variant,,ENST00000454531,;NME6,downstream_gene_variant,,ENST00000495734,;NME6,downstream_gene_variant,,ENST00000484959,;NME6,downstream_gene_variant,,ENST00000494209,;FCF1P2,upstream_gene_variant,,ENST00000415284,;	434-435	118	123	SUCCESS
IP6K2	51447	.	GRCh37	3	48731511	48731511	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	59	177	0	ENST00000328631.5:c.203-899G>A		p.*68*	ENST00000328631	NM_016291.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCGTGCT	NONE	.	.	.	.	.	ENSP00000331103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328631	Transcript	.	.	ENSG00000068745	17313	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K2_HUMAN	IP6K2	HGNC	C9JU99_HUMAN,C9JMC9_HUMAN,C9JLG7_HUMAN,C9JK62_HUMAN,C9JHX0_HUMAN,C9JGK2_HUMAN,B2RCP4_HUMAN	.	UPI00000732B2	SNV	IP6K2,3_prime_UTR_variant,,ENST00000413298,;IP6K2,3_prime_UTR_variant,,ENST00000431721,;IP6K2,3_prime_UTR_variant,,ENST00000449610,;IP6K2,3_prime_UTR_variant,,ENST00000340879,;IP6K2,3_prime_UTR_variant,,ENST00000450045,;IP6K2,3_prime_UTR_variant,,ENST00000446860,;IP6K2,3_prime_UTR_variant,,ENST00000432678,;IP6K2,intron_variant,,ENST00000449563,;IP6K2,intron_variant,,ENST00000412850,;IP6K2,intron_variant,,ENST00000413654,;IP6K2,intron_variant,,ENST00000437427,;IP6K2,intron_variant,,ENST00000454335,;IP6K2,intron_variant,,ENST00000443853,;IP6K2,intron_variant,,ENST00000328631,;IP6K2,downstream_gene_variant,,ENST00000453202,;IP6K2,downstream_gene_variant,,ENST00000434860,;IP6K2,downstream_gene_variant,,ENST00000424035,;IP6K2,downstream_gene_variant,,ENST00000455545,;IP6K2,downstream_gene_variant,,ENST00000417896,;IP6K2,downstream_gene_variant,,ENST00000440424,;IP6K2,downstream_gene_variant,,ENST00000443964,;IP6K2,downstream_gene_variant,,ENST00000436134,;IP6K2,3_prime_UTR_variant,,ENST00000416707,;IP6K2,3_prime_UTR_variant,,ENST00000433104,;IP6K2,intron_variant,,ENST00000479914,;IP6K2,downstream_gene_variant,,ENST00000412795,;IP6K2,upstream_gene_variant,,ENST00000491686,;	.	177	188	SUCCESS
RBM5	10181	.	GRCh37	3	50137458	50137458	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	108	0	ENST00000347869.3:c.383A>C	p.Asp128Ala	p.D128A	ENST00000347869	NM_005778.3	128	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS2810.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGATGTGA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000343054	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000347869	Transcript	.	.	ENSG00000003756	9902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	RBM5_HUMAN	RBM5	HGNC	C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN	.	UPI000013337C	SNV	RBM5,missense_variant,p.Asp128Ala,ENST00000347869,;RBM5,missense_variant,p.Asp128Ala,ENST00000469838,;RBM5,missense_variant,p.Asp128Ala,ENST00000441305,;RBM5,synonymous_variant,p.%3D,ENST00000404526,;RBM5,downstream_gene_variant,,ENST00000417905,;RBM5,3_prime_UTR_variant,,ENST00000395174,;RBM6,3_prime_UTR_variant,,ENST00000434592,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000433556,;RBM5,upstream_gene_variant,,ENST00000471995,;RBM5,upstream_gene_variant,,ENST00000496179,;RBM5,upstream_gene_variant,,ENST00000474818,;RBM5,upstream_gene_variant,,ENST00000462025,;RBM5,downstream_gene_variant,,ENST00000438369,;	558	108	91	SUCCESS
RBM5	10181	.	GRCh37	3	50143082	50143082	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	31	106	0	ENST00000347869.3:c.795A>G	p.Ile265Met	p.I265M	ENST00000347869	NM_005778.3	265	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS2810.1	795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATAAAAGA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000343054	.	10/25	.	.	.	.	.	.	.	.	COSM3945560	10/25	PASS	ENST00000347869	Transcript	.	.	ENSG00000003756	9902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0.02)	1	RBM5_HUMAN	RBM5	HGNC	C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN	.	UPI000013337C	SNV	RBM5,missense_variant,p.Ile265Met,ENST00000347869,;RBM5,downstream_gene_variant,,ENST00000404526,;RBM5,downstream_gene_variant,,ENST00000469838,;RBM5,upstream_gene_variant,,ENST00000441812,;RBM5,3_prime_UTR_variant,,ENST00000395174,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000471995,;RBM5,non_coding_transcript_exon_variant,,ENST00000496179,;RBM5,non_coding_transcript_exon_variant,,ENST00000474818,;RBM5,upstream_gene_variant,,ENST00000489437,;RBM5,upstream_gene_variant,,ENST00000494360,;RBM5,downstream_gene_variant,,ENST00000462025,;	970	106	118	SUCCESS
SLMAP	7871	.	GRCh37	3	57882301	57882301	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	114	333	0	ENST00000428312.1:c.1373G>C	p.Ser458Thr	p.S458T	ENST00000428312		458	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS33774.1	1322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGCAGTG	NONE	.	.	hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF8	.	.	ENSP00000295951	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000295951	Transcript	.	.	ENSG00000163681	16643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,missense_variant,p.Ser420Thr,ENST00000449503,;SLMAP,missense_variant,p.Ser165Thr,ENST00000465203,;SLMAP,missense_variant,p.Ser66Thr,ENST00000416658,;SLMAP,missense_variant,p.Ser42Thr,ENST00000417128,;SLMAP,missense_variant,p.Ser458Thr,ENST00000428312,;SLMAP,missense_variant,p.Ser37Thr,ENST00000438794,;SLMAP,missense_variant,p.Ser441Thr,ENST00000295951,;SLMAP,missense_variant,p.Ser441Thr,ENST00000295952,;SLMAP,missense_variant,p.Ser454Thr,ENST00000383718,;SLMAP,5_prime_UTR_variant,,ENST00000494088,;SLMAP,5_prime_UTR_variant,,ENST00000461354,;SLMAP,5_prime_UTR_variant,,ENST00000495364,;SLMAP,5_prime_UTR_variant,,ENST00000442599,;SLMAP,5_prime_UTR_variant,,ENST00000416870,;SLMAP,5_prime_UTR_variant,,ENST00000466255,;SLMAP,non_coding_transcript_exon_variant,,ENST00000475055,;SLMAP,non_coding_transcript_exon_variant,,ENST00000472546,;SLMAP,non_coding_transcript_exon_variant,,ENST00000459654,;	2539	333	375	SUCCESS
FEZF2	55079	.	GRCh37	3	62358217	62358217	+	synonymous_variant	Silent	SNP	G	G	A	rs1236532156	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	54	0	ENST00000283268.3:c.327C>T	p.Gly109=	p.G109=	ENST00000283268	NM_018008.3	109	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2897.1	327	MUTECT|MUSE	.	CCACCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228	.	.	ENSP00000283268	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,synonymous_variant,p.%3D,ENST00000283268,;FEZF2,synonymous_variant,p.%3D,ENST00000475839,;FEZF2,synonymous_variant,p.%3D,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	622	54	53	SUCCESS
ROBO1	6091	.	GRCh37	3	78649366	78649366	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	56	183	0	ENST00000464233.1:c.4838del	p.Gly1613GlufsTer10	p.G1613Efs*10	ENST00000464233	NM_002941.3	1613	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS54611.1	4838	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCTTCCTGAT	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,Low_complexity_(Seg):seg	.	.	ENSP00000420321	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	deletion	ROBO1,frameshift_variant,p.Gly1613GlufsTer10,ENST00000464233,;ROBO1,frameshift_variant,p.Gly1568GlufsTer10,ENST00000495273,;ROBO1,frameshift_variant,p.Gly1574GlufsTer10,ENST00000436010,;ROBO1,frameshift_variant,p.Gly1513GlufsTer10,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000466906,;	4952	183	271	SUCCESS
EPHA6	285220	.	GRCh37	3	96945199	96945199	+	synonymous_variant	Silent	SNP	T	T	G	rs758462964	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	118	0	ENST00000389672.5:c.1206T>G	p.Ser402=	p.S402=	ENST00000389672	NM_001080448.2	402	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS46876.1	1206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGTCTG	NONE	byFrequency	.	hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:2gy5A03,Superfamily_domains:SSF57184	.	.	ENSP00000374323	.	4/18	.	.	.	.	.	.	.	.	rs758462964	4/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,synonymous_variant,p.%3D,ENST00000389672,;EPHA6,synonymous_variant,p.%3D,ENST00000470610,;	1244	118	103	SUCCESS
OR5AC2	81050	.	GRCh37	3	97806627	97806627	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	63	0	ENST00000358642.2:c.611T>C	p.Phe204Ser	p.F204S	ENST00000358642	NM_054106.1	204	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS33796.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTTGGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000351466	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358642	Transcript	.	.	ENSG00000196578	15431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	deleterious(0.02)	.	O5AC2_HUMAN	OR5AC2	HGNC	.	.	UPI0000441EFD	SNV	OR5AC2,missense_variant,p.Phe204Ser,ENST00000358642,;	611	63	89	SUCCESS
EMCN	51705	.	GRCh37	4	101386642	101386642	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	31	92	0	ENST00000296420.4:c.314T>C	p.Val105Ala	p.V105A	ENST00000296420	NM_001159694.1	105	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3655.1	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTACGTTT	NONE	.	.	hmmpanther:PTHR15869,Pfam_domain:PF07010	.	.	ENSP00000296420	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000296420	Transcript	.	.	ENSG00000164035	16041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	MUCEN_HUMAN	EMCN	HGNC	Q53H40_HUMAN,Q4W5J1_HUMAN	.	UPI000003777D	SNV	EMCN,missense_variant,p.Val105Ala,ENST00000511970,;EMCN,missense_variant,p.Val105Ala,ENST00000305864,;EMCN,missense_variant,p.Val105Ala,ENST00000502569,;EMCN,missense_variant,p.Val105Ala,ENST00000296420,;EMCN,missense_variant,p.Val32Ala,ENST00000506300,;EMCN,non_coding_transcript_exon_variant,,ENST00000502327,;EMCN,downstream_gene_variant,,ENST00000512253,;	493	92	101	SUCCESS
MAML3	55534	.	GRCh37	4	140640793	140640793	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	40	0	ENST00000509479.2:c.3101T>A	p.Leu1034His	p.L1034H	ENST00000509479	NM_018717.4	1034	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS54805.1	3101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGAGCGAT	NONE	.	.	hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8	.	.	ENSP00000421180	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000509479	Transcript	.	.	ENSG00000196782	16272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	MAML3_HUMAN	MAML3	HGNC	Q9NPV6_HUMAN,E7EVW8_HUMAN	.	UPI00001C1E1E	SNV	MAML3,missense_variant,p.Leu1034His,ENST00000509479,;MAML3,downstream_gene_variant,,ENST00000502696,;MGST2,intron_variant,,ENST00000515137,;MGST2,intron_variant,,ENST00000503816,;	3958	40	45	SUCCESS
SCOC	60592	.	GRCh37	4	141294779	141294779	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	61	0	ENST00000608372.1:c.89G>A	p.Arg30Gln	p.R30Q	ENST00000608372		30	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54806.1	89	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGGAGTG	NONE	.	.	hmmpanther:PTHR21614	.	.	ENSP00000477352	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000608372	Transcript	.	.	ENSG00000153130	20335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	tolerated_low_confidence(0.11)	.	.	SCOC	HGNC	.	.	UPI0000E5AC43	SNV	SCOC,missense_variant,p.Arg30Gln,ENST00000506597,;SCOC,missense_variant,p.Arg30Gln,ENST00000608372,;SCOC,intron_variant,,ENST00000394203,;SCOC,intron_variant,,ENST00000506322,;SCOC,intron_variant,,ENST00000394205,;SCOC,intron_variant,,ENST00000512749,;SCOC,intron_variant,,ENST00000338517,;SCOC,upstream_gene_variant,,ENST00000510586,;SCOC,upstream_gene_variant,,ENST00000502535,;SCOC,upstream_gene_variant,,ENST00000394201,;RP11-425I13.3,upstream_gene_variant,,ENST00000609616,;RP11-425I13.3,upstream_gene_variant,,ENST00000512692,;RP11-425I13.3,upstream_gene_variant,,ENST00000608178,;	116	61	56	SUCCESS
CLGN	1047	.	GRCh37	4	141321579	141321579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	129	0	ENST00000325617.5:c.626A>G	p.His209Arg	p.H209R	ENST00000325617	NM_004362.2	209	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3751.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATGTTTC	NONE	.	.	Superfamily_domains:SSF49899,Gene3D:2.60.120.200,Pfam_domain:PF00262,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7	.	.	ENSP00000326699	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	SNV	CLGN,missense_variant,p.His209Arg,ENST00000414773,;CLGN,missense_variant,p.His209Arg,ENST00000325617,;CLGN,missense_variant,p.His209Arg,ENST00000537281,;CLGN,downstream_gene_variant,,ENST00000509477,;	1067	129	129	SUCCESS
TRIM2	23321	.	GRCh37	4	154125610	154125610	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	67	0	ENST00000437508.2:c.-49+51188A>C		p.*17*	ENST00000437508	NM_001130067.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3781.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATAATG	NONE	.	8	.	.	.	ENSP00000339659	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338700	Transcript	1	.	ENSG00000109654	15974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIM2_HUMAN	TRIM2	HGNC	C9JVI3_HUMAN,C9J084_HUMAN	.	UPI00005A60C0	SNV	TRIM2,intron_variant,,ENST00000437508,;TRIM2,intron_variant,,ENST00000441616,;TRIM2,upstream_gene_variant,,ENST00000338700,;TRIM2,non_coding_transcript_exon_variant,,ENST00000494872,;TRIM2,non_coding_transcript_exon_variant,,ENST00000496978,;TRIM2,non_coding_transcript_exon_variant,,ENST00000479711,;	.	67	78	SUCCESS
CC2D2A	57545	.	GRCh37	4	15529075	15529075	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	48	0	ENST00000424120.1:c.1158del	p.Lys386AsnfsTer9	p.K386Nfs*9	ENST00000424120		385	gtA/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS47026.1	1155	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTGTAAAATA	NONE	.	.	hmmpanther:PTHR20837:SF4,hmmpanther:PTHR20837	.	.	ENSP00000403465	.	12/37	.	.	.	.	.	.	.	.	.	12/37	PASS	ENST00000424120	Transcript	1	.	ENSG00000048342	29253	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C2D2A_HUMAN	CC2D2A	HGNC	D6R9V3_HUMAN	.	UPI000023731A	deletion	CC2D2A,frameshift_variant,p.Lys386AsnfsTer9,ENST00000503292,;CC2D2A,frameshift_variant,p.Lys386AsnfsTer9,ENST00000413206,;CC2D2A,frameshift_variant,p.Lys337AsnfsTer9,ENST00000389652,;CC2D2A,frameshift_variant,p.Lys386AsnfsTer9,ENST00000512702,;CC2D2A,frameshift_variant,p.Lys386AsnfsTer9,ENST00000424120,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000513811,;CC2D2A,upstream_gene_variant,,ENST00000510220,;	1409	48	64	SUCCESS
FBXO8	26269	.	GRCh37	4	175162348	175162348	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	101	0	ENST00000393674.2:c.478A>T	p.Lys160Ter	p.K160*	ENST00000393674	NM_012180.2	160	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS3820.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTTGGACA	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,Pfam_domain:PF01369,Gene3D:1.10.220.20,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000377280	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000393674	Transcript	.	.	ENSG00000164117	13587	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX8_HUMAN	FBXO8	HGNC	D6RIC0_HUMAN	.	UPI000012A588	SNV	FBXO8,stop_gained,p.Lys160Ter,ENST00000393674,;FBXO8,stop_gained,p.Lys160Ter,ENST00000513696,;FBXO8,stop_gained,p.Lys119Ter,ENST00000503293,;FBXO8,3_prime_UTR_variant,,ENST00000515664,;	1341	101	91	SUCCESS
TMEM128	85013	.	GRCh37	4	4247987	4247987	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	43	175	0	ENST00000382753.4:c.181G>T	p.Val61Phe	p.V61F	ENST00000382753		61	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS3373.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAACAATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31134:SF1,hmmpanther:PTHR31134	.	.	ENSP00000254742	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000254742	Transcript	.	.	ENSG00000132406	28201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	deleterious(0.01)	.	TM128_HUMAN	TMEM128	HGNC	.	.	UPI0000073696	SNV	TMEM128,missense_variant,p.Val61Phe,ENST00000540397,;TMEM128,missense_variant,p.Val61Phe,ENST00000382753,;TMEM128,missense_variant,p.Val37Phe,ENST00000254742,;TMEM128,missense_variant,p.Val61Phe,ENST00000538516,;	696	175	184	SUCCESS
PDGFRA	5156	.	GRCh37	4	55143655	55143655	+	synonymous_variant	Silent	SNP	A	A	G	rs1391798182	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	137	0	ENST00000257290.5:c.1887A>G	p.Leu629=	p.L629=	ENST00000257290	NM_006206.4	629	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3495.1	1887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTAAAACG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000257290	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	FIP1L1,synonymous_variant,p.%3D,ENST00000507166,;PDGFRA,synonymous_variant,p.%3D,ENST00000257290,;PDGFRA,synonymous_variant,p.%3D,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000461294,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000507536,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	2218	137	129	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6027974	6027974	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	362	137	508	1	ENST00000409021.3:c.2477C>T	p.Ala826Val	p.A826V	ENST00000409021	NM_001099433.1	826	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47005.1	2477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGCTAGT	NONE	.	.	hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0.03)	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,missense_variant,p.Ala826Val,ENST00000409021,;JAKMIP1,missense_variant,p.Ala641Val,ENST00000409371,;	2927	509	499	SUCCESS
AGPAT9	0	.	GRCh37	4	84516038	84516038	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	67	0	ENST00000264409.4:c.779G>T	p.Arg260Ile	p.R260I	ENST00000264409	NM_032717.4	260	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS3606.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGAGCTA	NONE	.	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF10,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000378651	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000395226	Transcript	.	.	ENSG00000138678	28157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	GPAT3_HUMAN	AGPAT9	HGNC	.	.	UPI000004B62F	SNV	AGPAT9,missense_variant,p.Arg260Ile,ENST00000395226,;AGPAT9,missense_variant,p.Arg260Ile,ENST00000264409,;AGPAT9,upstream_gene_variant,,ENST00000509044,;AGPAT9,non_coding_transcript_exon_variant,,ENST00000513683,;	997	67	71	SUCCESS
MIR548I2	100302277	.	GRCh37	4	9557838	9557838	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	35	0	ENST00000408348.1:n.100A>T		p.*34*	ENST00000408348				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCTGGTAC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408348	Transcript	.	.	ENSG00000221275	35353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR548I2	HGNC	.	.	.	SNV	MIR548I2,non_coding_transcript_exon_variant,,ENST00000408348,;RP11-1396O13.1,upstream_gene_variant,,ENST00000463958,;	100	35	23	SUCCESS
GIN1	54826	.	GRCh37	5	102432254	102432254	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	112	0	ENST00000399004.2:c.1285A>T	p.Ser429Cys	p.S429C	ENST00000399004	NM_017676.2	429	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS43349.1	1285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTGGATT	NONE	.	.	hmmpanther:PTHR24559:SF168,hmmpanther:PTHR24559	.	.	ENSP00000381970	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.353)	.	deleterious_low_confidence(0.02)	.	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,missense_variant,p.Ser429Cys,ENST00000399004,;GIN1,intron_variant,,ENST00000508629,;GIN1,intron_variant,,ENST00000507478,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,intron_variant,,ENST00000513747,;	1380	112	114	SUCCESS
AQPEP	0	.	GRCh37	5	115336354	115336354	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	89	0	ENST00000357872.4:c.1646T>C	p.Met549Thr	p.M549T	ENST00000357872	NM_173800.4	549	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS4124.1	1646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAATGGTAA	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:1.10.390.10,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533	.	.	ENSP00000350541	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.02)	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,missense_variant,p.Met549Thr,ENST00000357872,;AQPEP,missense_variant,p.Met66Thr,ENST00000395528,;AQPEP,missense_variant,p.Met549Thr,ENST00000504467,;AQPEP,missense_variant,p.Met66Thr,ENST00000512314,;AQPEP,missense_variant,p.Met66Thr,ENST00000514509,;AQPEP,missense_variant,p.Met66Thr,ENST00000503329,;	1770	89	91	SUCCESS
PCDHB12	56124	.	GRCh37	5	140589674	140589674	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	43	146	0	ENST00000239450.2:c.1195A>G	p.Asn399Asp	p.N399D	ENST00000239450	NM_018932.3	399	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS4254.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAATTAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious_low_confidence(0)	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,missense_variant,p.Asn62Asp,ENST00000541609,;PCDHB12,missense_variant,p.Asn399Asp,ENST00000239450,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	1384	146	179	SUCCESS
LARS	0	.	GRCh37	5	145512586	145512586	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs768795113	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	132	0	ENST00000394434.2:c.2271A>T	p.Glu757Asp	p.E757D	ENST00000394434	NM_020117.9	757	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS34265.1	2271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTTCCAC	NONE	.	.	hmmpanther:PTHR11946:SF51,hmmpanther:PTHR11946,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00395,Superfamily_domains:SSF52374	.	.	ENSP00000377954	.	23/32	.	.	.	.	.	.	.	.	rs768795113	23/32	PASS	ENST00000394434	Transcript	1	.	ENSG00000133706	6512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.19)	.	SYLC_HUMAN	LARS	HGNC	Q9NVC0_HUMAN,Q9NPU8_HUMAN,Q9HAM7_HUMAN,Q2TU79_HUMAN,B4DJ10_HUMAN,B3KXA9_HUMAN	.	UPI0000037316	SNV	LARS,missense_variant,p.Glu711Asp,ENST00000545646,;LARS,missense_variant,p.Glu703Asp,ENST00000510191,;LARS,missense_variant,p.Glu757Asp,ENST00000394434,;LARS,missense_variant,p.Glu730Asp,ENST00000274562,;LARS,downstream_gene_variant,,ENST00000512412,;LARS,upstream_gene_variant,,ENST00000508709,;LARS,upstream_gene_variant,,ENST00000506231,;LARS,upstream_gene_variant,,ENST00000504611,;RP11-449H3.1,upstream_gene_variant,,ENST00000477363,;	2438	132	115	SUCCESS
ZNF622	90441	.	GRCh37	5	16463667	16463667	+	synonymous_variant	Silent	SNP	G	G	A	rs1432545450	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	44	138	0	ENST00000308683.2:c.810C>T	p.His270=	p.H270=	ENST00000308683	NM_033414.2	270	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS3886.1	810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATGTGAGC	NONE	.	.	hmmpanther:PTHR13182,Pfam_domain:PF12756,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000310042	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000308683	Transcript	.	.	ENSG00000173545	30958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN622_HUMAN	ZNF622	HGNC	.	.	UPI0000072102	SNV	ZNF622,synonymous_variant,p.%3D,ENST00000308683,;	937	138	156	SUCCESS
WWC1	23286	.	GRCh37	5	167833201	167833201	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	41	99	0	ENST00000265293.4:c.591-2A>T		p.X197_splice	ENST00000265293	NM_001161662.1	197		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54945.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTAGAATC	NONE	.	.	.	.	.	ENSP00000427772	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521089	Transcript	.	.	ENSG00000113645	29435	.	.	HIGH	5/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIBRA_HUMAN	WWC1	HGNC	.	.	UPI00017A7149	SNV	WWC1,splice_acceptor_variant,,ENST00000393895,;WWC1,splice_acceptor_variant,,ENST00000265293,;WWC1,splice_acceptor_variant,,ENST00000521089,;WWC1,upstream_gene_variant,,ENST00000524228,;WWC1,intron_variant,,ENST00000523043,;WWC1,upstream_gene_variant,,ENST00000517646,;WWC1,upstream_gene_variant,,ENST00000517425,;WWC1,upstream_gene_variant,,ENST00000519659,;	.	99	115	SUCCESS
PANK3	79646	.	GRCh37	5	167986088	167986088	+	synonymous_variant	Silent	SNP	T	T	G	rs752386767	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	25	105	0	ENST00000239231.6:c.1011A>C	p.Ala337=	p.A337=	ENST00000239231	NM_024594.3	337	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS4368.1	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTGCATA	NONE	byFrequency	.	hmmpanther:PTHR12280:SF21,hmmpanther:PTHR12280,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067	.	.	ENSP00000239231	.	6/7	.	.	.	.	.	.	.	.	rs752386767	6/7	PASS	ENST00000239231	Transcript	.	.	ENSG00000120137	19365	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PANK3_HUMAN	PANK3	HGNC	E5RHA5_HUMAN	.	UPI0000131D4D	SNV	PANK3,synonymous_variant,p.%3D,ENST00000239231,;MIR103A1,downstream_gene_variant,,ENST00000362165,;PANK3,non_coding_transcript_exon_variant,,ENST00000520504,;	1328	105	96	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178541174	178541174	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	48	125	0	ENST00000251582.7:c.3330T>A	p.Pro1110=	p.P1110=	ENST00000251582	NM_014244.4	1110	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4444.1	3330	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAGGCGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	.	.	ENSP00000251582	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,synonymous_variant,p.%3D,ENST00000251582,;ADAMTS2,non_coding_transcript_exon_variant,,ENST00000522937,;ADAMTS2,downstream_gene_variant,,ENST00000523450,;	3432	125	273	SUCCESS
IRX4	50805	.	GRCh37	5	1879844	1879844	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	6	99	0	ENST00000231357.2:c.510C>T	p.Pro170=	p.P170=	ENST00000231357	NM_016358.2	170	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3867.1	510	MUTECT|MUSE	.	TTGGTGGGGTA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16,Gene3D:1.10.10.60,Pfam_domain:PF05920,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000423161	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,synonymous_variant,p.%3D,ENST00000511126,;IRX4,synonymous_variant,p.%3D,ENST00000231357,;IRX4,synonymous_variant,p.%3D,ENST00000513692,;IRX4,synonymous_variant,p.%3D,ENST00000505790,;CTD-2194D22.3,upstream_gene_variant,,ENST00000506335,;IRX4,non_coding_transcript_exon_variant,,ENST00000505938,;IRX4,missense_variant,p.Pro183Leu,ENST00000508261,;	967	99	98	SUCCESS
NNT	23530	.	GRCh37	5	43702725	43702725	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	41	0	ENST00000264663.5:c.2998A>G	p.Thr1000Ala	p.T1000A	ENST00000264663	NM_012343.3	1000	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3949.1	2998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATACTGAT	NONE	.	.	hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,Pfam_domain:PF02233,Gene3D:3.40.50.1220,Superfamily_domains:SSF52467	.	.	ENSP00000264663	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000264663	Transcript	1	.	ENSG00000112992	7863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	NNTM_HUMAN	NNT	HGNC	E9PCX7_HUMAN,D6RHU2_HUMAN,D6RCR6_HUMAN,D6RAI5_HUMAN	.	UPI000013D54F	SNV	NNT,missense_variant,p.Thr869Ala,ENST00000512996,;NNT,missense_variant,p.Thr1000Ala,ENST00000344920,;NNT,missense_variant,p.Thr1000Ala,ENST00000264663,;NNT,missense_variant,p.Tyr11Cys,ENST00000503059,;	3219	41	53	SUCCESS
PDE4D	5144	.	GRCh37	5	58285596	58285596	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	57	159	1	ENST00000340635.6:c.1438A>T	p.Thr480Ser	p.T480S	ENST00000340635	NM_001104631.1	480	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS47213.1	1438	RADIA|SOMATICSNIPER|VARSCANS	.	AGGTGTAGATA	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF91,Gene3D:1.10.1300.10,Pfam_domain:PF00233,Superfamily_domains:SSF109604	.	.	ENSP00000345502	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.961)	.	tolerated_low_confidence(0.19)	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,missense_variant,p.Thr178Ser,ENST00000505453,;PDE4D,missense_variant,p.Thr350Ser,ENST00000503258,;PDE4D,missense_variant,p.Thr419Ser,ENST00000546160,;PDE4D,missense_variant,p.Thr344Ser,ENST00000360047,;PDE4D,missense_variant,p.Thr480Ser,ENST00000340635,;PDE4D,missense_variant,p.Thr358Ser,ENST00000405755,;PDE4D,missense_variant,p.Thr416Ser,ENST00000507116,;PDE4D,missense_variant,p.Thr178Ser,ENST00000358923,;PDE4D,missense_variant,p.Thr419Ser,ENST00000502484,;PDE4D,missense_variant,p.Thr189Ser,ENST00000317118,;PDE4D,downstream_gene_variant,,ENST00000405053,;PDE4D,3_prime_UTR_variant,,ENST00000309641,;PDE4D,non_coding_transcript_exon_variant,,ENST00000515011,;	1614	160	181	SUCCESS
GPR98	0	.	GRCh37	5	89943496	89943496	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	35	130	0	ENST00000405460.2:c.3204A>G	p.Arg1068=	p.R1068=	ENST00000405460	NM_032119.3	1068	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS47246.1	3204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGACAGCA	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	17/90	.	.	.	.	.	.	.	.	.	17/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;GPR98,synonymous_variant,p.%3D,ENST00000504142,;GPR98,downstream_gene_variant,,ENST00000512205,;	3300	130	117	SUCCESS
NUS1	116150	.	GRCh37	6	118015334	118015334	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1582471661	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	168	314	1	ENST00000368494.3:c.682A>T	p.Ser228Cys	p.S228C	ENST00000368494	NM_138459.3	228	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS5118.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCAGTTTA	NONE	.	.	hmmpanther:PTHR21528:SF0,hmmpanther:PTHR21528,Gene3D:1uehA00,Pfam_domain:PF01255,Superfamily_domains:SSF64005	.	.	ENSP00000357480	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000368494	Transcript	.	.	ENSG00000153989	21042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.04)	.	NGBR_HUMAN	NUS1	HGNC	.	.	UPI000006FECA	SNV	NUS1,missense_variant,p.Ser228Cys,ENST00000368494,;	851	315	397	SUCCESS
SGK1	6446	.	GRCh37	6	134492215	134492215	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	49	115	1	ENST00000237305.7:c.984G>T	p.Leu328=	p.L328=	ENST00000237305	NM_005627.3	328	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47476.1	1269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCAGGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF148,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356832	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000367858	Transcript	.	.	ENSG00000118515	10810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGK1_HUMAN	SGK1	HGNC	E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN	.	UPI000013CA0E	SNV	SGK1,synonymous_variant,p.%3D,ENST00000237305,;SGK1,synonymous_variant,p.%3D,ENST00000367858,;SGK1,synonymous_variant,p.%3D,ENST00000528577,;SGK1,synonymous_variant,p.%3D,ENST00000413996,;SGK1,synonymous_variant,p.%3D,ENST00000367857,;SGK1,synonymous_variant,p.%3D,ENST00000475719,;SGK1,downstream_gene_variant,,ENST00000461976,;SGK1,downstream_gene_variant,,ENST00000524387,;SGK1,downstream_gene_variant,,ENST00000489458,;SGK1,downstream_gene_variant,,ENST00000531575,;SGK1,non_coding_transcript_exon_variant,,ENST00000531782,;SGK1,non_coding_transcript_exon_variant,,ENST00000474427,;SGK1,non_coding_transcript_exon_variant,,ENST00000477460,;SGK1,non_coding_transcript_exon_variant,,ENST00000367855,;SGK1,downstream_gene_variant,,ENST00000534658,;SGK1,downstream_gene_variant,,ENST00000524764,;SGK1,downstream_gene_variant,,ENST00000530421,;SGK1,downstream_gene_variant,,ENST00000532021,;SGK1,downstream_gene_variant,,ENST00000473704,;SGK1,downstream_gene_variant,,ENST00000472859,;SGK1,downstream_gene_variant,,ENST00000532856,;SGK1,downstream_gene_variant,,ENST00000525877,;SGK1,downstream_gene_variant,,ENST00000475882,;SGK1,downstream_gene_variant,,ENST00000490149,;SGK1,downstream_gene_variant,,ENST00000525700,;	1867	117	176	SUCCESS
ADGB	79747	.	GRCh37	6	147122997	147122997	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	100	200	0	ENST00000397944.3:c.4668T>C	p.Asp1556=	p.D1556=	ENST00000397944	NM_024694.3	1556	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	.	4668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATGAATT	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283	.	.	ENSP00000381036	.	35/36	.	.	.	.	.	.	.	.	.	35/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,synonymous_variant,p.%3D,ENST00000367490,;ADGB,synonymous_variant,p.%3D,ENST00000367489,;ADGB,synonymous_variant,p.%3D,ENST00000397944,;ADGB,3_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,downstream_gene_variant,,ENST00000562413,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000480328,;KATNBL1P6,downstream_gene_variant,,ENST00000453433,;	4744	200	239	SUCCESS
KATNA1	11104	.	GRCh37	6	149959640	149959640	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	49	97	0	ENST00000335647.5:c.44A>T	p.Glu15Val	p.E15V	ENST00000335647		15	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS5217.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATTCACGA	NONE	.	.	HAMAP:MF_03023,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF71	.	.	ENSP00000356381	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000367411	Transcript	.	.	ENSG00000186625	6216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KTNA1_HUMAN	KATNA1	HGNC	B7ZBC9_HUMAN,B7ZBC8_HUMAN	.	UPI0000071D68	SNV	KATNA1,missense_variant,p.Glu15Val,ENST00000420200,;KATNA1,missense_variant,p.Glu15Val,ENST00000335643,;KATNA1,missense_variant,p.Glu15Val,ENST00000367411,;KATNA1,missense_variant,p.Glu15Val,ENST00000335647,;KATNA1,missense_variant,p.Glu15Val,ENST00000444282,;KATNA1,intron_variant,,ENST00000470620,;	303	97	125	SUCCESS
SYTL3	94120	.	GRCh37	6	159139125	159139125	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	60	0	ENST00000297239.9:c.603del	p.Lys202AsnfsTer6	p.K202Nfs*6	ENST00000297239		201	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS56458.1	602	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTCTCCAAAT	NONE	.	.	hmmpanther:PTHR10024:SF177,hmmpanther:PTHR10024	.	.	ENSP00000297239	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000297239	Transcript	.	.	ENSG00000164674	15587	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYTL3_HUMAN	SYTL3	HGNC	.	.	UPI000015FE68	deletion	SYTL3,frameshift_variant,p.Lys202AsnfsTer6,ENST00000297239,;SYTL3,intron_variant,,ENST00000367081,;SYTL3,intron_variant,,ENST00000360448,;	796	60	96	SUCCESS
ZSCAN9	7746	.	GRCh37	6	28194827	28194827	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	67	134	0	ENST00000252207.5:c.-36A>C		p.*12*	ENST00000252207	NM_006299.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56407.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAGCTGG	NONE	.	.	.	.	.	ENSP00000404074	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000425468	Transcript	.	.	ENSG00000137185	12984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSC9_HUMAN	ZSCAN9	HGNC	E9PLJ4_HUMAN	.	UPI0000E09E19	SNV	ZSCAN9,5_prime_UTR_variant,,ENST00000527436,;ZSCAN9,5_prime_UTR_variant,,ENST00000531979,;ZSCAN9,5_prime_UTR_variant,,ENST00000252207,;ZSCAN9,5_prime_UTR_variant,,ENST00000531941,;ZSCAN9,5_prime_UTR_variant,,ENST00000527844,;ZSCAN9,5_prime_UTR_variant,,ENST00000526391,;ZSCAN9,5_prime_UTR_variant,,ENST00000425468,;ZSCAN9,5_prime_UTR_variant,,ENST00000531981,;	130	135	185	SUCCESS
STK19	8859	.	GRCh37	6	31940408	31940408	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	83	0	ENST00000375331.2:c.441C>T	p.Arg147=	p.R147=	ENST00000375331	NM_004197.1	147	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4733.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGCGCGGC	NONE	.	.	hmmpanther:PTHR15243:SF0,hmmpanther:PTHR15243	.	.	ENSP00000364482	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000375333	Transcript	.	.	ENSG00000204344	11398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK19_HUMAN	STK19	HGNC	C9J6S8_HUMAN	.	UPI0000136063	SNV	STK19,synonymous_variant,p.%3D,ENST00000375331,;STK19,synonymous_variant,p.%3D,ENST00000375333,;DXO,upstream_gene_variant,,ENST00000495340,;SKIV2L,downstream_gene_variant,,ENST00000544581,;SKIV2L,downstream_gene_variant,,ENST00000491994,;SKIV2L,downstream_gene_variant,,ENST00000375394,;DXO,upstream_gene_variant,,ENST00000375356,;STK19,downstream_gene_variant,,ENST00000460018,;DXO,upstream_gene_variant,,ENST00000375349,;DXO,upstream_gene_variant,,ENST00000337523,;STK19,non_coding_transcript_exon_variant,,ENST00000466336,;STK19,intron_variant,,ENST00000463823,;SKIV2L,downstream_gene_variant,,ENST00000470453,;SKIV2L,downstream_gene_variant,,ENST00000461915,;SKIV2L,downstream_gene_variant,,ENST00000471818,;DXO,upstream_gene_variant,,ENST00000474587,;DXO,upstream_gene_variant,,ENST00000487914,;DXO,upstream_gene_variant,,ENST00000478221,;STK19,non_coding_transcript_exon_variant,,ENST00000473983,;STK19,non_coding_transcript_exon_variant,,ENST00000469907,;STK19,non_coding_transcript_exon_variant,,ENST00000479644,;STK19,non_coding_transcript_exon_variant,,ENST00000466132,;STK19,non_coding_transcript_exon_variant,,ENST00000492583,;STK19,non_coding_transcript_exon_variant,,ENST00000491861,;STK19,non_coding_transcript_exon_variant,,ENST00000484540,;STK19,non_coding_transcript_exon_variant,,ENST00000471028,;STK19,non_coding_transcript_exon_variant,,ENST00000478486,;STK19,intron_variant,,ENST00000483801,;STK19,intron_variant,,ENST00000519179,;DXO,upstream_gene_variant,,ENST00000473976,;DXO,upstream_gene_variant,,ENST00000492946,;SKIV2L,downstream_gene_variant,,ENST00000494058,;SKIV2L,downstream_gene_variant,,ENST00000484835,;DXO,upstream_gene_variant,,ENST00000480240,;DXO,upstream_gene_variant,,ENST00000498357,;DXO,upstream_gene_variant,,ENST00000477826,;SKIV2L,downstream_gene_variant,,ENST00000474839,;DXO,upstream_gene_variant,,ENST00000491327,;SKIV2L,downstream_gene_variant,,ENST00000465703,;DXO,upstream_gene_variant,,ENST00000460058,;DXO,upstream_gene_variant,,ENST00000485557,;SKIV2L,downstream_gene_variant,,ENST00000483553,;SKIV2L,downstream_gene_variant,,ENST00000485349,;	494	83	101	SUCCESS
HLA-DOB	3112	.	GRCh37	6	32782304	32782304	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775119133	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	27	124	0	ENST00000438763.2:c.436A>T	p.Thr146Ser	p.T146S	ENST00000438763	NM_002120.3	146	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4754.1	436	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTCACAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR19944:SF43,hmmpanther:PTHR19944,PROSITE_profiles:PS50835	.	.	ENSP00000390020	.	3/6	.	.	.	.	.	.	.	.	rs775119133	3/6	PASS	ENST00000438763	Transcript	.	.	ENSG00000241106	4937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.138)	.	tolerated(0.24)	.	DOB_HUMAN	HLA-DOB	HGNC	Q5QNS2_HUMAN	.	UPI0000000C73	SNV	HLA-DOB,missense_variant,p.Thr130Ser,ENST00000447394,;HLA-DOB,missense_variant,p.Thr146Ser,ENST00000438763,;TAP2,missense_variant,p.Thr753Ser,ENST00000452392,;HLA-DOB,3_prime_UTR_variant,,ENST00000488325,;HLA-DOB,non_coding_transcript_exon_variant,,ENST00000475235,;	533	124	156	SUCCESS
SNRPC	6631	.	GRCh37	6	34725313	34725313	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	87	0	ENST00000244520.5:c.-8A>T		p.*3*	ENST00000244520	NM_003093.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34436.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGAGCA	NONE	.	.	.	.	.	ENSP00000244520	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000244520	Transcript	.	.	ENSG00000124562	11157	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RU1C_HUMAN	SNRPC	HGNC	Q5TAL4_HUMAN,Q5TAL2_HUMAN	.	UPI00001352E7	SNV	SNRPC,5_prime_UTR_variant,,ENST00000374018,;SNRPC,5_prime_UTR_variant,,ENST00000244520,;SNRPC,upstream_gene_variant,,ENST00000374017,;SNRPC,upstream_gene_variant,,ENST00000474635,;	131	88	110	SUCCESS
CMTR1	23070	.	GRCh37	6	37411922	37411922	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	50	0	ENST00000373451.4:c.281T>A	p.Leu94His	p.L94H	ENST00000373451	NM_015050.2	94	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS4835.1	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTTATGG	NONE	.	.	SMART_domains:SM00443,Pfam_domain:PF01585,hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121,PROSITE_profiles:PS50174	.	.	ENSP00000362550	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000373451	Transcript	.	.	ENSG00000137200	21077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	CMTR1_HUMAN	CMTR1	HGNC	.	.	UPI00000700C2	SNV	CMTR1,missense_variant,p.Leu94His,ENST00000373451,;CMTR1,missense_variant,p.Leu94His,ENST00000455891,;CMTR1,downstream_gene_variant,,ENST00000471097,;	445	50	70	SUCCESS
TTBK1	84630	.	GRCh37	6	43250465	43250465	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	53	0	ENST00000259750.4:c.1987G>A	p.Val663Met	p.V663M	ENST00000259750	NM_032538.1	663	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS34455.1	1987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGTGTTC	BUFFER|p.S665S|c.1995C>T|3	.	.	.	.	.	ENSP00000259750	.	14/15	.	.	.	.	.	.	.	.	COSM1268824	14/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.698)	.	.	1	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,missense_variant,p.Val663Met,ENST00000259750,;	2070	53	81	SUCCESS
AARS2	57505	.	GRCh37	6	44269182	44269182	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	29	0	ENST00000244571.4:c.2618A>G	p.Glu873Gly	p.E873G	ENST00000244571	NM_020745.3	873	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS34464.1	2618	MUTECT|MUSE	.	GCAGCTCCTGA	NONE	.	.	HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,TIGRFAM_domain:TIGR00344	.	.	ENSP00000244571	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.169)	.	tolerated(0.19)	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,missense_variant,p.Glu873Gly,ENST00000244571,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,upstream_gene_variant,,ENST00000371505,;TCTE1,upstream_gene_variant,,ENST00000371503,;AARS2,upstream_gene_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	2621	29	43	SUCCESS
PKHD1	5314	.	GRCh37	6	51613247	51613247	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	53	0	ENST00000371117.3:c.9167A>T	p.Gln3056Leu	p.Q3056L	ENST00000371117	NM_138694.3	3056	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4935.1	9167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTGACCC	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915,Gene3D:2.160.20.10,Pfam_domain:PF13229,Superfamily_domains:SSF51126	.	.	ENSP00000360158	.	58/67	.	.	.	.	.	.	.	.	.	58/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0.02)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Gln3056Leu,ENST00000340994,;PKHD1,missense_variant,p.Gln3056Leu,ENST00000371117,;	9443	53	61	SUCCESS
ACHE	43	.	GRCh37	7	100490380	100490380	+	synonymous_variant	Silent	SNP	G	G	A	rs1308868818	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	66	0	ENST00000241069.5:c.1128C>T	p.Gly376=	p.G376=	ENST00000241069	NM_000665.3	376	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5710.1	1128	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGAAGCCTGG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF171,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000303211	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000302913	Transcript	.	.	ENSG00000087085	108	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACES_HUMAN	ACHE	HGNC	C9JUK5_HUMAN,C9JD78_HUMAN	.	UPI0000140DF0	SNV	ACHE,synonymous_variant,p.%3D,ENST00000241069,;ACHE,synonymous_variant,p.%3D,ENST00000428317,;ACHE,synonymous_variant,p.%3D,ENST00000411582,;ACHE,synonymous_variant,p.%3D,ENST00000430554,;ACHE,synonymous_variant,p.%3D,ENST00000412389,;ACHE,synonymous_variant,p.%3D,ENST00000302913,;ACHE,intron_variant,,ENST00000419336,;ACHE,intron_variant,,ENST00000426415,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000388793,;SRRT,downstream_gene_variant,,ENST00000457580,;SRRT,downstream_gene_variant,,ENST00000347433,;SRRT,downstream_gene_variant,,ENST00000432932,;UFSP1,upstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,downstream_gene_variant,,ENST00000497647,;ACHE,synonymous_variant,p.%3D,ENST00000454485,;ACHE,intron_variant,,ENST00000442452,;ACHE,intron_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000477529,;	1267	66	64	SUCCESS
FAM131B	9715	.	GRCh37	7	143057167	143057167	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	38	53	0	ENST00000409222.3:c.20T>A	p.Leu7Gln	p.L7Q	ENST00000409222	NM_014690.4	7	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS47734.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCAGTGAG	NONE	.	.	hmmpanther:PTHR15736:SF9,hmmpanther:PTHR15736	.	.	ENSP00000410603	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000443739	Transcript	.	.	ENSG00000159784	22202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0)	.	F131B_HUMAN	FAM131B	HGNC	D3DXE4_HUMAN	.	UPI0001633639	SNV	FAM131B,missense_variant,p.Leu35Gln,ENST00000443739,;FAM131B,missense_variant,p.Leu7Gln,ENST00000409408,;FAM131B,missense_variant,p.Leu7Gln,ENST00000409346,;FAM131B,missense_variant,p.Leu35Gln,ENST00000409578,;FAM131B,missense_variant,p.Leu7Gln,ENST00000409222,;RP11-563K23.1,upstream_gene_variant,,ENST00000609674,;FAM131B,missense_variant,p.Leu7Gln,ENST00000521347,;FAM131B,missense_variant,p.Leu35Gln,ENST00000519279,;FAM131B,non_coding_transcript_exon_variant,,ENST00000519161,;FAM131B,upstream_gene_variant,,ENST00000410085,;	253	53	76	SUCCESS
KCNH2	3757	.	GRCh37	7	150671846	150671846	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs199473495	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	79	153	0	ENST00000262186.5:c.260T>C	p.Leu87Pro	p.L87P	ENST00000262186	NM_000238.3	87	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS5910.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CGCCCAGCAGT	NONE	.	.	hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217,TIGRFAM_domain:TIGR00229,Pfam_domain:PF13426,Gene3D:3.30.450.20,Superfamily_domains:SSF55785	.	.	ENSP00000262186	.	2/15	.	.	.	.	.	.	.	.	rs199473495,CM022800,LQTS_NM_000238.2:c.260T>C	2/15	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0	.	12402336,19841300,12566525	probably_damaging(0.935)	.	deleterious(0.01)	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,missense_variant,p.Leu87Pro,ENST00000262186,;KCNH2,missense_variant,p.Leu87Pro,ENST00000430723,;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;	662	153	195	SUCCESS
VIPR2	7434	.	GRCh37	7	158823365	158823365	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs184356169	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	73	154	0	ENST00000262178.2:c.1259A>T	p.Gln420Leu	p.Q420L	ENST00000262178	NM_003382.4	420	cAg/cTg	0	.	G:0	.	G:0	.	A	Q/L	protein_coding	YES	CCDS5950.1	1259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACTGCAGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,Prints_domain:PR01155	G:0.003	.	ENSP00000262178	G:0	13/13	.	.	.	.	.	.	.	.	rs184356169	13/13	PASS	ENST00000262178	Transcript	.	G:0.0006	ENSG00000106018	12695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	G:0	deleterious(0.02)	.	VIPR2_HUMAN	VIPR2	HGNC	Q71V81_HUMAN	.	UPI0000055A9A	SNV	VIPR2,missense_variant,p.Gln420Leu,ENST00000262178,;VIPR2,missense_variant,p.Gln404Leu,ENST00000377633,;VIPR2,missense_variant,p.Gln561Leu,ENST00000402066,;LINC00689,downstream_gene_variant,,ENST00000413238,;LINC00689,downstream_gene_variant,,ENST00000438049,;	1445	154	180	SUCCESS
POLM	27434	.	GRCh37	7	44119332	44119332	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	35	0	ENST00000242248.5:c.480G>C	p.Leu160=	p.L160=	ENST00000242248	NM_013284.2	160	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34625.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCAGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF24,Pfam_domain:PF14716,Gene3D:1.10.150.110,PIRSF_domain:PIRSF000817,SMART_domains:SM00483,PIRSF_domain:PIRSF501176,Superfamily_domains:SSF47802,Prints_domain:PR00871	.	.	ENSP00000242248	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000242248	Transcript	.	.	ENSG00000122678	9185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLM_HUMAN	POLM	HGNC	.	.	UPI000004129C	SNV	POLM,synonymous_variant,p.%3D,ENST00000452049,;POLM,synonymous_variant,p.%3D,ENST00000335195,;POLM,synonymous_variant,p.%3D,ENST00000242248,;POLM,synonymous_variant,p.%3D,ENST00000395831,;POLM,synonymous_variant,p.%3D,ENST00000414235,;POLM,upstream_gene_variant,,ENST00000492971,;POLM,synonymous_variant,p.%3D,ENST00000430942,;POLM,synonymous_variant,p.%3D,ENST00000458246,;POLM,synonymous_variant,p.%3D,ENST00000418926,;POLM,3_prime_UTR_variant,,ENST00000445616,;POLM,non_coding_transcript_exon_variant,,ENST00000492321,;POLM,non_coding_transcript_exon_variant,,ENST00000492605,;POLM,non_coding_transcript_exon_variant,,ENST00000492312,;POLM,intron_variant,,ENST00000434229,;POLM,intron_variant,,ENST00000435068,;POLM,intron_variant,,ENST00000497300,;POLM,downstream_gene_variant,,ENST00000483644,;	582	35	40	SUCCESS
PTPN12	5782	.	GRCh37	7	77236577	77236577	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	39	151	0	ENST00000248594.6:c.721A>G	p.Ile241Val	p.I241V	ENST00000248594	NM_002835.3	241	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5592.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCATTTGT	NONE	.	.	Prints_domain:PR00700,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000932,SMART_domains:SM00194,SMART_domains:SM00404,Gene3D:3.90.190.10,Pfam_domain:PF00102,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF33,PROSITE_profiles:PS50056,PROSITE_profiles:PS50055	.	.	ENSP00000248594	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000248594	Transcript	.	.	ENSG00000127947	9645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.04)	.	PTN12_HUMAN	PTPN12	HGNC	F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN	.	UPI000013CC4C	SNV	PTPN12,missense_variant,p.Ile122Val,ENST00000415482,;PTPN12,missense_variant,p.Ile111Val,ENST00000435495,;PTPN12,missense_variant,p.Ile180Val,ENST00000522115,;PTPN12,missense_variant,p.Ile241Val,ENST00000248594,;PTPN12,3_prime_UTR_variant,,ENST00000447995,;PTPN12,non_coding_transcript_exon_variant,,ENST00000464313,;	993	151	180	SUCCESS
SGCE	8910	.	GRCh37	7	94252667	94252667	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	217	69	220	0	ENST00000265735.7:c.433A>T	p.Asn145Tyr	p.N145Y	ENST00000265735	NM_003919.2	145	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS47643.1	433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATTATGCC	NONE	.	.	hmmpanther:PTHR10132:SF13,hmmpanther:PTHR10132,Pfam_domain:PF05510,SMART_domains:SM00736	.	.	ENSP00000398930	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000445866	Transcript	.	.	ENSG00000127990	10808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.3)	.	.	SGCE	HGNC	G5E9K6_HUMAN	.	UPI0000D4E987	SNV	SGCE,missense_variant,p.Asn145Tyr,ENST00000447873,;SGCE,missense_variant,p.Asn181Tyr,ENST00000415788,;SGCE,missense_variant,p.Asn145Tyr,ENST00000445866,;SGCE,missense_variant,p.Asn104Tyr,ENST00000437425,;SGCE,missense_variant,p.Asn145Tyr,ENST00000265735,;SGCE,missense_variant,p.Asn145Tyr,ENST00000428696,;SGCE,3_prime_UTR_variant,,ENST00000450385,;SGCE,3_prime_UTR_variant,,ENST00000425444,;	459	220	286	SUCCESS
OXR1	55074	.	GRCh37	8	107751706	107751706	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	25	90	0	ENST00000442977.2:c.2061A>T	p.Ile687=	p.I687=	ENST00000442977	NM_001198532.1	687	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS56548.1	2061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATAAATTC	NONE	.	.	hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354	.	.	ENSP00000405424	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,synonymous_variant,p.%3D,ENST00000442977,;OXR1,synonymous_variant,p.%3D,ENST00000312046,;OXR1,synonymous_variant,p.%3D,ENST00000445937,;OXR1,synonymous_variant,p.%3D,ENST00000531443,;OXR1,synonymous_variant,p.%3D,ENST00000517566,;OXR1,synonymous_variant,p.%3D,ENST00000449762,;OXR1,synonymous_variant,p.%3D,ENST00000297447,;OXR1,5_prime_UTR_variant,,ENST00000521592,;OXR1,intron_variant,,ENST00000519415,;OXR1,intron_variant,,ENST00000452423,;OXR1,stop_gained,p.Lys74Ter,ENST00000435082,;OXR1,upstream_gene_variant,,ENST00000521864,;	2160	90	142	SUCCESS
ATAD2	29028	.	GRCh37	8	124383232	124383232	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	58	55	0	ENST00000287394.5:c.640-2A>T		p.X214_splice	ENST00000287394	NM_014109.3	214		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6343.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCTAAAAA	NONE	.	.	.	.	.	ENSP00000287394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	HIGH	5/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,splice_acceptor_variant,,ENST00000287394,;ATAD2,splice_acceptor_variant,,ENST00000521903,;ATAD2,upstream_gene_variant,,ENST00000534257,;ATAD2,splice_acceptor_variant,,ENST00000517666,;ATAD2,splice_acceptor_variant,,ENST00000519124,;ATAD2,splice_acceptor_variant,,ENST00000521496,;ATAD2,downstream_gene_variant,,ENST00000530065,;	.	55	114	SUCCESS
ANXA13	312	.	GRCh37	8	124693474	124693480	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	CTTGGCT	CTTGGCT	-	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	CTTGGCT	CTTGGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	83	12	76	0	ENST00000419625.1:c.951_*6del		p.*317*	ENST00000419625	NM_004306.2	317		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34939.1	1074-?	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTGGCTTGGCTCAGTG	NONE	.	.	.	.	.	ENSP00000262219	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262219	Transcript	.	.	ENSG00000104537	536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANX13_HUMAN	ANXA13	HGNC	E5RIN3_HUMAN	.	UPI000016A41E	deletion	ANXA13,coding_sequence_variant,,ENST00000262219,;ANXA13,coding_sequence_variant,,ENST00000419625,;	1142-1148	76	95	SUCCESS
ADCY8	114	.	GRCh37	8	132052660	132052660	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	16	0	ENST00000286355.5:c.-81A>T		p.*27*	ENST00000286355	NM_001115.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6363.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGGCCTGGTAG	NONE	.	.	.	.	.	ENSP00000286355	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,5_prime_UTR_variant,,ENST00000286355,;ADCY8,upstream_gene_variant,,ENST00000377928,;	2013	16	19	SUCCESS
MAFA	389692	.	GRCh37	8	144512455	144512455	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	37	0	ENST00000333480.2:c.122T>A	p.Phe41Tyr	p.F41Y	ENST00000333480	NM_201589.3	41	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS34955.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGAAGCGC	NONE	.	.	hmmpanther:PTHR10129,hmmpanther:PTHR10129:SF24	.	.	ENSP00000328364	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333480	Transcript	.	.	ENSG00000182759	23145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	MAFA_HUMAN	MAFA	HGNC	D4Q8H3_HUMAN	.	UPI00001B0366	SNV	MAFA,missense_variant,p.Phe41Tyr,ENST00000333480,;MAFA,upstream_gene_variant,,ENST00000528185,;	122	37	55	SUCCESS
CPSF1	29894	.	GRCh37	8	145623168	145623168	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	49	0	ENST00000349769.3:c.2073+1G>A		p.X691_splice	ENST00000349769	NM_013291.2	691		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34966.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTACATGGT	NONE	.	.	.	.	.	ENSP00000339353	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000349769	Transcript	.	.	ENSG00000071894	2324	.	.	HIGH	20/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSF1_HUMAN	CPSF1	HGNC	Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN	.	UPI00001282EE	SNV	CPSF1,splice_donor_variant,,ENST00000349769,;CPSF1,downstream_gene_variant,,ENST00000531042,;ADCK5,downstream_gene_variant,,ENST00000308860,;MIR1234,downstream_gene_variant,,ENST00000408875,;MIR939,upstream_gene_variant,,ENST00000401314,;CPSF1,upstream_gene_variant,,ENST00000531727,;CPSF1,upstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000533492,;ADCK5,downstream_gene_variant,,ENST00000529654,;CPSF1,upstream_gene_variant,,ENST00000531480,;CPSF1,upstream_gene_variant,,ENST00000527827,;CPSF1,upstream_gene_variant,,ENST00000532725,;CPSF1,upstream_gene_variant,,ENST00000526271,;CPSF1,upstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000532560,;CPSF1,downstream_gene_variant,,ENST00000527916,;CPSF1,downstream_gene_variant,,ENST00000531683,;	.	49	76	SUCCESS
CHRNA2	1135	.	GRCh37	8	27320996	27320996	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	32	134	0	ENST00000407991.1:c.964T>A	p.Ser322Thr	p.S322T	ENST00000407991	NM_000742.3	322	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS6059.1	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGAGGTGG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF83,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000385026	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,missense_variant,p.Ser322Thr,ENST00000407991,;CHRNA2,missense_variant,p.Ser307Thr,ENST00000240132,;CHRNA2,missense_variant,p.Ser322Thr,ENST00000520933,;PTK2B,downstream_gene_variant,,ENST00000338238,;PTK2B,downstream_gene_variant,,ENST00000517339,;PTK2B,downstream_gene_variant,,ENST00000420218,;PTK2B,downstream_gene_variant,,ENST00000544172,;PTK2B,downstream_gene_variant,,ENST00000397501,;PTK2B,downstream_gene_variant,,ENST00000346049,;CHRNA2,3_prime_UTR_variant,,ENST00000523695,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,intron_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000522008,;	1573	134	159	SUCCESS
EPHX2	2053	.	GRCh37	8	27348688	27348688	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	39	0	ENST00000521400.1:c.-38A>T		p.*13*	ENST00000521400	NM_001979.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6060.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTAGCTGC	NONE	.	.	.	.	.	ENSP00000430269	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000521400	Transcript	.	.	ENSG00000120915	3402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HYES_HUMAN	EPHX2	HGNC	E5RI53_HUMAN	.	UPI0000073FE5	SNV	EPHX2,5_prime_UTR_variant,,ENST00000521780,;EPHX2,5_prime_UTR_variant,,ENST00000380476,;EPHX2,5_prime_UTR_variant,,ENST00000518328,;EPHX2,5_prime_UTR_variant,,ENST00000517536,;EPHX2,5_prime_UTR_variant,,ENST00000521400,;EPHX2,upstream_gene_variant,,ENST00000518379,;EPHX2,upstream_gene_variant,,ENST00000521684,;EPHX2,upstream_gene_variant,,ENST00000523827,;EPHX2,upstream_gene_variant,,ENST00000520666,;EPHX2,non_coding_transcript_exon_variant,,ENST00000520623,;	393	39	38	SUCCESS
FGFR1	2260	.	GRCh37	8	38271457	38271457	+	synonymous_variant	Silent	SNP	G	G	A	rs369782405	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	40	86	0	ENST00000425967.3:c.2364C>T	p.Ile788=	p.I788=	ENST00000425967	NM_001174067.1	788	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS55223.1	2364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGATGCG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,PIRSF_domain:PIRSF000628	.	.	ENSP00000393312	.	18/19	.	.	.	.	.	.	.	.	rs369782405,COSM454527,COSM1489273,COSM454528,COSM454526	18/19	PASS	ENST00000425967	Transcript	1	.	ENSG00000077782	3688	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	FGFR1_HUMAN	FGFR1	HGNC	E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN	.	UPI0001CE06A3	SNV	FGFR1,synonymous_variant,p.%3D,ENST00000326324,;FGFR1,synonymous_variant,p.%3D,ENST00000532791,;FGFR1,synonymous_variant,p.%3D,ENST00000397103,;FGFR1,synonymous_variant,p.%3D,ENST00000447712,;FGFR1,synonymous_variant,p.%3D,ENST00000341462,;FGFR1,synonymous_variant,p.%3D,ENST00000356207,;FGFR1,synonymous_variant,p.%3D,ENST00000425967,;FGFR1,synonymous_variant,p.%3D,ENST00000397113,;FGFR1,synonymous_variant,p.%3D,ENST00000335922,;FGFR1,synonymous_variant,p.%3D,ENST00000397091,;FGFR1,synonymous_variant,p.%3D,ENST00000397108,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526688,;FGFR1,3_prime_UTR_variant,,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,downstream_gene_variant,,ENST00000466021,;LETM2,downstream_gene_variant,,ENST00000523268,;FGFR1,downstream_gene_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000524528,;	2687	86	111	SUCCESS
ST18	9705	.	GRCh37	8	53084488	53084488	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	72	0	ENST00000276480.7:c.933T>G	p.Ala311=	p.A311=	ENST00000276480	NM_014682.2	311	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6149.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGAGCAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	.	.	ENSP00000276480	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,synonymous_variant,p.%3D,ENST00000517580,;ST18,synonymous_variant,p.%3D,ENST00000276480,;ST18,downstream_gene_variant,,ENST00000520257,;ST18,synonymous_variant,p.%3D,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;	1617	72	112	SUCCESS
CSPP1	79848	.	GRCh37	8	68087491	68087491	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	48	209	0	ENST00000262210.5:c.2954-40C>G		p.*985*	ENST00000262210	NM_024790.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43744.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACAACAT	NONE	.	.	.	.	.	ENSP00000262210	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	MODIFIER	23/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	ARFGEF1,3_prime_UTR_variant,,ENST00000520381,;CSPP1,intron_variant,,ENST00000519668,;CSPP1,intron_variant,,ENST00000262210,;CSPP1,intron_variant,,ENST00000412460,;CSPP1,intron_variant,,ENST00000521168,;CSPP1,intron_variant,,ENST00000521324,;ARFGEF1,downstream_gene_variant,,ENST00000522878,;	.	209	233	SUCCESS
DEFA3	1668	.	GRCh37	8	6874290	6874290	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	18	114	0	ENST00000327857.2:c.83A>T	p.Glu28Val	p.E28V	ENST00000327857	NM_005217.3	28	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS5962.1	83	RADIA|VARSCANS	.	CAACCTCATCA	NONE	.	.	hmmpanther:PTHR11876:SF19,hmmpanther:PTHR11876,Pfam_domain:PF00879,PIRSF_domain:PIRSF001875	.	.	ENSP00000328359	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000327857	Transcript	.	.	ENSG00000239839	2762	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	DEF3_HUMAN	DEFA3	HGNC	Q6EZE9_HUMAN	.	UPI00001405CC	SNV	DEFA3,missense_variant,p.Glu28Val,ENST00000327857,;DEFA1B,intron_variant,,ENST00000535841,;	175	114	160	SUCCESS
NR4A3	8013	.	GRCh37	9	102607053	102607053	+	synonymous_variant	Silent	SNP	T	T	A	rs529277354	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	74	0	ENST00000395097.2:c.1377T>A	p.Thr459=	p.T459=	ENST00000395097	NM_173200.2	459	acT/acA	0	.	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS6742.1	1410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACTGATCT	NONE	by1000G	.	Prints_domain:PR00398,Superfamily_domains:SSF48508,SMART_domains:SM00430,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24085:SF2,hmmpanther:PTHR24085	A:0.001	.	ENSP00000333122	A:0	5/7	.	.	.	.	.	.	.	.	rs529277354,COSM752296	5/7	PASS	ENST00000330847	Transcript	.	A:0.0002	ENSG00000119508	7982	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	NR4A3_HUMAN	NR4A3	HGNC	.	.	UPI0000160FE4	SNV	NR4A3,synonymous_variant,p.%3D,ENST00000330847,;NR4A3,synonymous_variant,p.%3D,ENST00000395097,;	1454	74	105	SUCCESS
KCNT1	57582	.	GRCh37	9	138646978	138646978	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	59	0	ENST00000488444.2:c.446T>C	p.Leu149Pro	p.L149P	ENST00000488444		149	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS35175.2	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTGTGGG	NONE	.	.	Gene3D:1.10.287.70,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	6/31	.	.	.	.	.	.	.	.	.	6/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Leu115Pro,ENST00000473941,;KCNT1,missense_variant,p.Leu129Pro,ENST00000486577,;KCNT1,missense_variant,p.Leu149Pro,ENST00000490355,;KCNT1,missense_variant,p.Leu149Pro,ENST00000263604,;KCNT1,missense_variant,p.Leu135Pro,ENST00000491806,;KCNT1,missense_variant,p.Leu168Pro,ENST00000298480,;KCNT1,missense_variant,p.Leu120Pro,ENST00000487664,;KCNT1,missense_variant,p.Leu168Pro,ENST00000371757,;KCNT1,missense_variant,p.Leu149Pro,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	570	59	39	SUCCESS
CCDC171	203238	.	GRCh37	9	15744565	15744565	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	56	177	0	ENST00000380701.3:c.2344A>T	p.Lys782Ter	p.K782*	ENST00000380701	NM_173550.2	782	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS6481.1	2344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAAAGAAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000370077	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000380701	Transcript	.	.	ENSG00000164989	29828	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC171_HUMAN	CCDC171	HGNC	Q8NCV3_HUMAN	.	UPI000021C44B	SNV	CCDC171,stop_gained,p.Lys782Ter,ENST00000297641,;CCDC171,stop_gained,p.Lys782Ter,ENST00000380701,;CCDC171,stop_gained,p.Lys22Ter,ENST00000449575,;	2672	177	187	SUCCESS
SMARCA2	6595	.	GRCh37	9	2115820	2115820	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	97	296	0	ENST00000349721.2:c.3457-2A>T		p.X1153_splice	ENST00000349721	NM_003070.3	1153		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34977.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACAGGATC	NONE	.	.	.	.	.	ENSP00000371638	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	HIGH	24/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,splice_acceptor_variant,,ENST00000382194,;SMARCA2,splice_acceptor_variant,,ENST00000382203,;SMARCA2,splice_acceptor_variant,,ENST00000357248,;SMARCA2,splice_acceptor_variant,,ENST00000349721,;	.	296	295	SUCCESS
PTPRD	5789	.	GRCh37	9	8527349	8527349	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	704	35	729	0	ENST00000356435.5:c.546T>C	p.Ser182=	p.S182=	ENST00000356435		182	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS43786.1	546	MUTECT|MUSE	.	CCAATAGATTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50835	.	.	ENSP00000370593	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,synonymous_variant,p.%3D,ENST00000486161,;PTPRD,synonymous_variant,p.%3D,ENST00000381196,;PTPRD,synonymous_variant,p.%3D,ENST00000397606,;PTPRD,synonymous_variant,p.%3D,ENST00000356435,;PTPRD,synonymous_variant,p.%3D,ENST00000355233,;PTPRD,synonymous_variant,p.%3D,ENST00000540109,;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000358503,;PTPRD,intron_variant,,ENST00000360074,;PTPRD,intron_variant,,ENST00000397611,;PTPRD,intron_variant,,ENST00000537002,;PTPRD,downstream_gene_variant,,ENST00000463477,;PTPRD,intron_variant,,ENST00000488774,;	1090	729	739	SUCCESS
RASEF	158158	.	GRCh37	9	85615446	85615446	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	24	105	0	ENST00000376447.3:c.1477G>T	p.Asp493Tyr	p.D493Y	ENST00000376447	NM_152573.3	493	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6662.1	1477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCTTCTA	NONE	.	.	hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2	.	.	ENSP00000365630	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000376447	Transcript	.	.	ENSG00000165105	26464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious(0.02)	.	RASEF_HUMAN	RASEF	HGNC	.	.	UPI0000074189	SNV	RASEF,missense_variant,p.Asp493Tyr,ENST00000376447,;	1738	105	84	SUCCESS
ZMAT1	84460	.	GRCh37	X	101139286	101139286	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	47	162	0	ENST00000372782.3:c.1113A>T	p.Ser371=	p.S371=	ENST00000372782	NM_001011657.3	371	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35348.1	1113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGTGAAAT	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14	.	.	ENSP00000361868	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000372782	Transcript	.	.	ENSG00000166432	29377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMAT1_HUMAN	ZMAT1	HGNC	.	.	UPI0000198414	SNV	ZMAT1,synonymous_variant,p.%3D,ENST00000458570,;ZMAT1,synonymous_variant,p.%3D,ENST00000540921,;ZMAT1,synonymous_variant,p.%3D,ENST00000372782,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,;ZMAT1,downstream_gene_variant,,ENST00000490757,;	1161	162	134	SUCCESS
COL4A6	1288	.	GRCh37	X	107408117	107408117	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	6	218	0	ENST00000372216.4:c.3963A>T	p.Leu1321=	p.L1321=	ENST00000372216	NM_001847.2	1321	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14541.1	3963	MUTECT|MUSE	.	AGTCCTAGCTC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164,Pfam_domain:PF01391	.	.	ENSP00000361290	.	39/45	.	.	.	.	.	.	.	.	.	39/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,synonymous_variant,p.%3D,ENST00000394872,;COL4A6,synonymous_variant,p.%3D,ENST00000372216,;COL4A6,synonymous_variant,p.%3D,ENST00000334504,;COL4A6,synonymous_variant,p.%3D,ENST00000545689,;COL4A6,synonymous_variant,p.%3D,ENST00000538570,;COL4A6,upstream_gene_variant,,ENST00000418180,;COL4A6,upstream_gene_variant,,ENST00000487645,;	4064	218	167	SUCCESS
COL4A5	1287	.	GRCh37	X	107867495	107867495	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs281874708	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	31	147	0	ENST00000361603.2:c.2947T>A	p.Tyr983Asn	p.Y983N	ENST00000361603	NM_000495.4	983	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS35366.1	2947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AAGGTTATCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	34/53	.	.	.	.	.	.	.	.	rs281874708	34/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	21332469	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Tyr61Asn,ENST00000505728,;COL4A5,missense_variant,p.Tyr983Asn,ENST00000328300,;COL4A5,missense_variant,p.Tyr983Asn,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	3191	147	101	SUCCESS
AIFM1	9131	.	GRCh37	X	129289157	129289157	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	12	291	0	ENST00000287295.3:c.249+1278A>G		p.*83*	ENST00000287295	NM_004208.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14618.1	.	MUTECT|MUSE	.	GACTGTTGCTC	NONE	.	.	.	.	.	ENSP00000287295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000287295	Transcript	.	.	ENSG00000156709	8768	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AIFM1_HUMAN	AIFM1	HGNC	E9PMA0_HUMAN	.	UPI00001313DB	SNV	AIFM1,missense_variant,p.Thr71Ala,ENST00000319908,;AIFM1,intron_variant,,ENST00000287295,;AIFM1,intron_variant,,ENST00000535724,;AIFM1,intron_variant,,ENST00000346424,;AIFM1,3_prime_UTR_variant,,ENST00000529877,;AIFM1,intron_variant,,ENST00000416073,;AIFM1,intron_variant,,ENST00000527892,;	.	291	246	SUCCESS
RPGR	6103	.	GRCh37	X	38182690	38182690	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	286	225	713	0	ENST00000339363.3:c.116A>G	p.His39Arg	p.H39R	ENST00000339363		39	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS35229.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATGTACA	NONE	.	.	hmmpanther:PTHR22870:SF129,hmmpanther:PTHR22870,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000367766	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000378505	Transcript	.	.	ENSG00000156313	10295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	.	.	RPGR_HUMAN	RPGR	HGNC	.	.	UPI00005D3C95	SNV	RPGR,missense_variant,p.His39Arg,ENST00000318842,;RPGR,missense_variant,p.His39Arg,ENST00000339363,;RPGR,missense_variant,p.His39Arg,ENST00000342811,;RPGR,missense_variant,p.His39Arg,ENST00000309513,;RPGR,missense_variant,p.His39Arg,ENST00000338898,;RPGR,missense_variant,p.His39Arg,ENST00000378505,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,missense_variant,p.His39Arg,ENST00000474584,;RPGR,missense_variant,p.His39Arg,ENST00000482855,;RPGR,upstream_gene_variant,,ENST00000470183,;	293	713	512	SUCCESS
KCND1	3750	.	GRCh37	X	48826085	48826085	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	115	0	ENST00000218176.3:c.594G>A	p.Val198=	p.V198=	ENST00000218176	NM_004979.4	198	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14314.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGACACGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF117,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000218176	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000218176	Transcript	.	.	ENSG00000102057	6237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCND1_HUMAN	KCND1	HGNC	A6NEF1_HUMAN	.	UPI000000DB05	SNV	KCND1,synonymous_variant,p.%3D,ENST00000218176,;KCND1,upstream_gene_variant,,ENST00000419374,;GRIPAP1,downstream_gene_variant,,ENST00000376441,;GRIPAP1,downstream_gene_variant,,ENST00000376425,;KCND1,upstream_gene_variant,,ENST00000376477,;GRIPAP1,downstream_gene_variant,,ENST00000376444,;	1892	115	99	SUCCESS
FOXP3	50943	.	GRCh37	X	49114003	49114003	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	6	209	1	ENST00000376207.4:c.335A>T	p.His112Leu	p.H112L	ENST00000376207	NM_014009.3	112	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS14323.1	335	MUTECT|MUSE	.	GGGCGTGGGCA	NONE	.	.	hmmpanther:PTHR11829:SF115,hmmpanther:PTHR11829	.	.	ENSP00000365380	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000376207	Transcript	.	.	ENSG00000049768	6106	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.14)	.	FOXP3_HUMAN	FOXP3	HGNC	B7ZLG1_HUMAN	.	UPI000012ADED	SNV	FOXP3,missense_variant,p.His77Leu,ENST00000557224,;FOXP3,missense_variant,p.His77Leu,ENST00000376199,;FOXP3,missense_variant,p.His62Leu,ENST00000376197,;FOXP3,missense_variant,p.His112Leu,ENST00000376207,;FOXP3,missense_variant,p.His77Leu,ENST00000518685,;FOXP3,missense_variant,p.His112Leu,ENST00000455775,;	523	210	145	SUCCESS
ARHGEF9	23229	.	GRCh37	X	62926291	62926291	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	59	0	ENST00000253401.6:c.228C>T	p.Pro76=	p.P76=	ENST00000253401	NM_015185.2	76	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35315.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTGGGCCC	NONE	.	.	Superfamily_domains:SSF50044,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103	.	.	ENSP00000253401	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000253401	Transcript	.	.	ENSG00000131089	14561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG9_HUMAN	ARHGEF9	HGNC	B1AMR3_HUMAN	.	UPI000006F940	SNV	ARHGEF9,synonymous_variant,p.%3D,ENST00000374878,;ARHGEF9,synonymous_variant,p.%3D,ENST00000374872,;ARHGEF9,synonymous_variant,p.%3D,ENST00000437457,;ARHGEF9,synonymous_variant,p.%3D,ENST00000253401,;ARHGEF9,5_prime_UTR_variant,,ENST00000374870,;ARHGEF9,non_coding_transcript_exon_variant,,ENST00000495564,;	1029	59	36	SUCCESS
AWAT2	158835	.	GRCh37	X	69269752	69269752	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	117	378	0	ENST00000276101.3:c.31A>T	p.Thr11Ser	p.T11S	ENST00000276101	NM_001002254.1	11	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS35320.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGTCTTGA	NONE	.	.	hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF12	.	.	ENSP00000421172	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000276101	Transcript	.	.	ENSG00000147160	23251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.5)	.	AWAT2_HUMAN	AWAT2	HGNC	.	.	UPI00001D7BE0	SNV	AWAT2,missense_variant,p.Thr11Ser,ENST00000276101,;	37	378	324	SUCCESS
ENTPD7	57089	.	GRCh37	10	101455831	101455831	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746457576	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	56	153	0	ENST00000370489.4:c.962G>C	p.Arg321Pro	p.R321P	ENST00000370489	NM_020354.3	321	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS7480.1	962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGGCAGC	BUFFER|p.E325K|c.973G>A|3	byFrequency	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF37,Pfam_domain:PF01150	.	.	ENSP00000359520	.	9/13	.	.	.	.	.	.	.	.	rs746457576,COSM4010937	9/13	PASS	ENST00000370489	Transcript	.	.	ENSG00000198018	19745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	ENTP7_HUMAN	ENTPD7	HGNC	.	.	UPI0000047E1C	SNV	ENTPD7,missense_variant,p.Arg321Pro,ENST00000370489,;ENTPD7,upstream_gene_variant,,ENST00000472998,;EBAG9P1,downstream_gene_variant,,ENST00000418955,;	1140	153	115	SUCCESS
CYP17A1	1586	.	GRCh37	10	104597106	104597106	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749456949	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	54	0	ENST00000369887.3:c.13G>C	p.Val5Leu	p.V5L	ENST00000369887	NM_000102.3	5	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS7541.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACGAGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24289,hmmpanther:PTHR24289:SF1	.	.	ENSP00000358903	.	1/8	.	.	.	.	.	.	.	.	rs749456949	1/8	PASS	ENST00000369887	Transcript	1	.	ENSG00000148795	2593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	CP17A_HUMAN	CYP17A1	HGNC	Q1HB44_HUMAN,C7F7K7_HUMAN	.	UPI0000128309	SNV	CYP17A1,missense_variant,p.Val5Leu,ENST00000369887,;CYP17A1-AS1,downstream_gene_variant,,ENST00000369884,;CYP17A1,non_coding_transcript_exon_variant,,ENST00000489268,;PFN1P11,downstream_gene_variant,,ENST00000445829,;	185	54	45	SUCCESS
CHST15	51363	.	GRCh37	10	125798100	125798100	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765085481	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	174	0	ENST00000346248.5:c.1121C>T	p.Thr374Met	p.T374M	ENST00000346248	NM_015892.4	374	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS7638.1	1121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGTCAGA	NONE	byFrequency	.	hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333947	.	5/8	.	.	.	.	.	.	.	.	rs765085481	5/8	PASS	ENST00000346248	Transcript	.	.	ENSG00000182022	18137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0.03)	.	CHSTF_HUMAN	CHST15	HGNC	.	.	UPI000004D06B	SNV	CHST15,missense_variant,p.Thr374Met,ENST00000421115,;CHST15,missense_variant,p.Thr374Met,ENST00000435907,;CHST15,missense_variant,p.Thr374Met,ENST00000346248,;CHST15,non_coding_transcript_exon_variant,,ENST00000476765,;	1764	174	99	SUCCESS
KNDC1	85442	.	GRCh37	10	135012081	135012081	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	96	215	0	ENST00000304613.3:c.2070-1G>A		p.X690_splice	ENST00000304613		690		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7674.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTAGGGACC	NONE	.	.	.	.	.	ENSP00000304437	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	HIGH	13/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,splice_acceptor_variant,,ENST00000368571,;KNDC1,splice_acceptor_variant,,ENST00000304613,;KNDC1,splice_acceptor_variant,,ENST00000368572,;	.	215	171	SUCCESS
KNDC1	85442	.	GRCh37	10	135012082	135012082	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	93	215	0	ENST00000304613.3:c.2070G>T	p.Arg690Ser	p.R690S	ENST00000304613		690	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7674.1	2070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAGGGACCA	NONE	.	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	.	.	ENSP00000304437	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.01)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Arg625Ser,ENST00000368571,;KNDC1,missense_variant,p.Arg690Ser,ENST00000304613,;KNDC1,missense_variant,p.Arg690Ser,ENST00000368572,;	2091	215	170	SUCCESS
ANK3	288	.	GRCh37	10	61833947	61833947	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs745726299	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	17	102	0	ENST00000280772.2:c.6692A>T	p.Asn2231Ile	p.N2231I	ENST00000280772	NM_020987.3	2231	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS7258.1	6692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGATTGTGG	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	rs745726299,COSM318685	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	.	0,1	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Asn2231Ile,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	6884	102	92	SUCCESS
JMJD1C	221037	.	GRCh37	10	64968996	64968996	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	45	103	0	ENST00000399262.2:c.2695-1G>T		p.X899_splice	ENST00000399262	NM_032776.1	899		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41532.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCTATTA	NONE	.	.	.	.	.	ENSP00000382204	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	HIGH	8/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,splice_acceptor_variant,,ENST00000399251,;JMJD1C,splice_acceptor_variant,,ENST00000399262,;JMJD1C,splice_acceptor_variant,,ENST00000542921,;JMJD1C,splice_acceptor_variant,,ENST00000402544,;JMJD1C,upstream_gene_variant,,ENST00000327520,;	.	103	94	SUCCESS
LIPF	8513	.	GRCh37	10	90431671	90431671	+	synonymous_variant	Silent	SNP	T	T	C	rs1452034076	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	58	126	0	ENST00000238983.4:c.618T>C	p.Tyr206=	p.Y206=	ENST00000238983	NM_004190.3	206	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS55718.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTATACAAA	NONE	.	.	hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF25,Pfam_domain:PF00561,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000862,Superfamily_domains:SSF53474	.	.	ENSP00000377900	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000394375	Transcript	.	.	ENSG00000182333	6622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPG_HUMAN	LIPF	HGNC	.	.	UPI0001E92A2A	SNV	LIPF,synonymous_variant,p.%3D,ENST00000238983,;LIPF,synonymous_variant,p.%3D,ENST00000355843,;LIPF,synonymous_variant,p.%3D,ENST00000608620,;LIPF,synonymous_variant,p.%3D,ENST00000394375,;LIPF,upstream_gene_variant,,ENST00000496797,;LIPF,downstream_gene_variant,,ENST00000609378,;	761	126	111	SUCCESS
MMP20	9313	.	GRCh37	11	102487623	102487623	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	71	158	0	ENST00000260228.2:c.294T>A	p.Pro98=	p.P98=	ENST00000260228	NM_004771.3	98	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8318.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGAGGCTT	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF125,PROSITE_patterns:PS00546,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090,Prints_domain:PR00138	.	.	ENSP00000260228	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000260228	Transcript	.	.	ENSG00000137674	7167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP20_HUMAN	MMP20	HGNC	.	.	UPI000013D0B3	SNV	MMP20,synonymous_variant,p.%3D,ENST00000260228,;RP11-817J15.2,intron_variant,,ENST00000542119,;	307	158	182	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103091404	103091404	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	5	108	0	ENST00000375735.2:c.8999T>C	p.Leu3000Pro	p.L3000P	ENST00000375735	NM_001080463.1	3000	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS44717.1	8999	MUTECT|MUSE	.	ATCACTTTCAG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF12777	.	.	ENSP00000381167	.	57/90	.	.	.	.	.	.	.	.	.	57/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Leu3000Pro,ENST00000398093,;DYNC2H1,missense_variant,p.Leu3000Pro,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,downstream_gene_variant,,ENST00000533027,;	8999	108	133	SUCCESS
MSANTD4	84437	.	GRCh37	11	105881275	105881275	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	9	99	0	ENST00000301919.4:c.370G>A	p.Asp124Asn	p.D124N	ENST00000301919	NM_032424.1	124	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31663.1	370	MUTECT|MUSE	.	CCAGTCAAAAT	NONE	.	.	hmmpanther:PTHR21732	.	.	ENSP00000304713	.	2/3	.	.	.	.	.	.	.	.	COSM3358996	2/3	PASS	ENST00000301919	Transcript	.	.	ENSG00000170903	29383	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.563)	.	tolerated(0.1)	1	MSD4_HUMAN	MSANTD4	HGNC	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN	.	UPI0000073CF1	SNV	MSANTD4,missense_variant,p.Asp124Asn,ENST00000530788,;MSANTD4,missense_variant,p.Asp124Asn,ENST00000301919,;MSANTD4,downstream_gene_variant,,ENST00000534458,;MSANTD4,downstream_gene_variant,,ENST00000530108,;MSANTD4,upstream_gene_variant,,ENST00000529805,;	1786	99	138	SUCCESS
TMEM45B	120224	.	GRCh37	11	129722516	129722516	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	57	158	0	ENST00000281441.3:c.139A>G	p.Ile47Val	p.I47V	ENST00000281441	NM_138788.3	47	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8482.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGATCGTC	NONE	.	.	hmmpanther:PTHR16007:SF12,hmmpanther:PTHR16007	.	.	ENSP00000281441	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000281441	Transcript	.	.	ENSG00000151715	25194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.37)	.	TM45B_HUMAN	TMEM45B	HGNC	.	.	UPI0000039E75	SNV	TMEM45B,missense_variant,p.Ile47Val,ENST00000524567,;TMEM45B,missense_variant,p.Ile47Val,ENST00000281441,;TMEM45B,non_coding_transcript_exon_variant,,ENST00000527754,;TMEM45B,non_coding_transcript_exon_variant,,ENST00000529381,;	227	158	147	SUCCESS
OTOG	340990	.	GRCh37	11	17633835	17633835	+	synonymous_variant	Silent	SNP	C	C	A	rs180901190	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	22	0	ENST00000399391.2:c.6286C>A	p.Arg2096=	p.R2096=	ENST00000399391	NM_001277269.1	2096	Cgg/Agg	0	.	T:0.0008	.	T:0	.	A	R	protein_coding	YES	CCDS59225.1	6286	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGTGCGGGTG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339	T:0.001	.	ENSP00000382323	T:0	36/55	.	.	.	.	.	.	.	.	rs180901190,COSM3986084	36/55	PASS	ENST00000399391	Transcript	.	T:0.0004	ENSG00000188162	8516	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	T:0	.	0,1	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,synonymous_variant,p.%3D,ENST00000399397,;OTOG,synonymous_variant,p.%3D,ENST00000342528,;OTOG,synonymous_variant,p.%3D,ENST00000399391,;	6286	22	19	SUCCESS
DCDC1	341019	.	GRCh37	11	30938526	30938526	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	12	119	0	ENST00000339794.5:c.580C>T	p.Pro194Ser	p.P194S	ENST00000339794		194	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	.	.	3343	MUTECT|MUSE|VARSCANS	.	CCTGGGAAGTG	NONE	.	.	hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958	.	.	ENSP00000472625	.	24/36	.	.	.	.	.	.	.	.	.	24/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.16)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Pro1115Ser,ENST00000597505,;DCDC1,missense_variant,p.Pro194Ser,ENST00000339794,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,missense_variant,p.Pro150Ser,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	3343	119	130	SUCCESS
OR52E8	390079	.	GRCh37	11	5878659	5878659	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	60	177	0	ENST00000537935.1:c.274T>A	p.Trp92Arg	p.W92R	ENST00000537935	NM_001005168.1	92	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS31400.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCAGAAGA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF108,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000444054	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000537935	Transcript	.	.	ENSG00000183269	15217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O52E8_HUMAN	OR52E8	HGNC	.	.	UPI000004B211	SNV	OR52E8,missense_variant,p.Trp92Arg,ENST00000537935,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	306	178	176	SUCCESS
PATL1	219988	.	GRCh37	11	59423093	59423093	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	84	0	ENST00000300146.9:c.934G>A	p.Ala312Thr	p.A312T	ENST00000300146	NM_152716.2	312	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44613.1	934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCTGGGG	BUFFER|p.P313Q|c.938C>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21551,hmmpanther:PTHR21551:SF2,Pfam_domain:PF09770	.	.	ENSP00000300146	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000300146	Transcript	.	.	ENSG00000166889	26721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.27)	.	PATL1_HUMAN	PATL1	HGNC	B3KXN0_HUMAN	.	UPI00001FA7D8	SNV	PATL1,missense_variant,p.Ala312Thr,ENST00000300146,;	1019	84	79	SUCCESS
AHNAK	79026	.	GRCh37	11	62288775	62288782	+	frameshift_variant	Frame_Shift_Del	DEL	TTGGACCC	TTGGACCC	-	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	TTGGACCC	TTGGACCC	.	.	.	.	.	.	.	.	.	.	.	.	.	136	15	130	0	ENST00000378024.4:c.13107_13114del	p.Gly4370ValfsTer17	p.G4370Vfs*17	ENST00000378024	NM_001620.2	4369	aaGGGTCCAAag/aaag	0	.	.	.	.	.	-	KGPK/KX	protein_coding	YES	CCDS31584.1	13107-13114	INDELOCATOR*|PINDEL	.	TGAACTTTGGACCCTTGAG	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	deletion	AHNAK,frameshift_variant,p.Gly4370ValfsTer17,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	13382-13389	130	151	SUCCESS
SLC22A10	387775	.	GRCh37	11	63071682	63071682	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	42	0	ENST00000332793.6:c.1388T>C	p.Val463Ala	p.V463A	ENST00000332793	NM_001039752.3	463	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS41661.1	1388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTTCTCA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000327569	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000332793	Transcript	.	.	ENSG00000184999	18057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.06)	.	S22AA_HUMAN	SLC22A10	HGNC	B4DJY8_HUMAN	.	UPI0000D62620	SNV	SLC22A10,missense_variant,p.Phe262Leu,ENST00000544661,;SLC22A10,missense_variant,p.Val463Ala,ENST00000332793,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,missense_variant,p.Phe257Leu,ENST00000532724,;SLC22A10,missense_variant,p.Phe365Leu,ENST00000533483,;	1390	42	59	SUCCESS
CATSPER1	117144	.	GRCh37	11	65784577	65784577	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748502205	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	41	0	ENST00000312106.5:c.2270G>A	p.Arg757His	p.R757H	ENST00000312106	NM_053054.3	757	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8127.1	2270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCGGAAC	NONE	byFrequency	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32	.	.	ENSP00000309052	.	11/12	.	.	.	.	.	.	.	.	rs748502205	11/12	PASS	ENST00000312106	Transcript	.	.	ENSG00000175294	17116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	CTSR1_HUMAN	CATSPER1	HGNC	.	.	UPI000045651C	SNV	CATSPER1,missense_variant,p.Arg757His,ENST00000312106,;CST6,downstream_gene_variant,,ENST00000312134,;CATSPER1,non_coding_transcript_exon_variant,,ENST00000529244,;	2408	41	51	SUCCESS
SLC29A2	3177	.	GRCh37	11	66139205	66139205	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	16	0	ENST00000357440.2:c.-143T>A		p.*48*	ENST00000357440	NM_001532.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8137.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTAGCCTC	NONE	.	.	.	.	.	ENSP00000350024	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000357440	Transcript	.	.	ENSG00000174669	11004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S29A2_HUMAN	SLC29A2	HGNC	.	.	UPI000013F0E7	SNV	SLC29A2,5_prime_UTR_variant,,ENST00000357440,;SLC29A2,intron_variant,,ENST00000311161,;SLC29A2,intron_variant,,ENST00000546034,;SLC29A2,intron_variant,,ENST00000544554,;SLC29A2,5_prime_UTR_variant,,ENST00000540386,;SLC29A2,upstream_gene_variant,,ENST00000541567,;	87	16	14	SUCCESS
PPFIBP2	8495	.	GRCh37	11	7618805	7618805	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	34	83	0	ENST00000299492.4:c.387A>G	p.Thr129=	p.T129=	ENST00000299492	NM_003621.3	129	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31419.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGACCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587:SF18,hmmpanther:PTHR12587	.	.	ENSP00000299492	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000299492	Transcript	.	.	ENSG00000166387	9250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPB2_HUMAN	PPFIBP2	HGNC	E9PP16_HUMAN,E9PMN3_HUMAN,E9PMH3_HUMAN,E9PK17_HUMAN,E9PJA0_HUMAN,E9PIK8_HUMAN,B3KM46_HUMAN	.	UPI00001C1EF8	SNV	PPFIBP2,synonymous_variant,p.%3D,ENST00000528883,;PPFIBP2,synonymous_variant,p.%3D,ENST00000524548,;PPFIBP2,synonymous_variant,p.%3D,ENST00000527790,;PPFIBP2,synonymous_variant,p.%3D,ENST00000299492,;PPFIBP2,5_prime_UTR_variant,,ENST00000525597,;PPFIBP2,5_prime_UTR_variant,,ENST00000529575,;PPFIBP2,5_prime_UTR_variant,,ENST00000533792,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000529321,;PPFIBP2,upstream_gene_variant,,ENST00000530189,;	775	83	79	SUCCESS
FAT3	120114	.	GRCh37	11	92616054	92616054	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	99	0	ENST00000298047.6:c.12432G>T	p.Gln4144His	p.Q4144H	ENST00000298047		4144	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	.	12432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGGCTGG	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Gln479His,ENST00000533797,;FAT3,missense_variant,p.Gln4144His,ENST00000298047,;FAT3,missense_variant,p.Gln4144His,ENST00000409404,;FAT3,missense_variant,p.Gln3994His,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	12449	99	91	SUCCESS
HEPHL1	341208	.	GRCh37	11	93796813	93796813	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	10	147	0	ENST00000315765.9:c.555G>A	p.Val185=	p.V185=	ENST00000315765	NM_001098672.1	185	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44710.1	555	MUTECT|MUSE	.	TGGGTGTACCA	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07732,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000313699	.	3/20	.	.	.	.	.	.	.	.	COSM1510506	3/20	PASS	ENST00000315765	Transcript	.	.	ENSG00000181333	30477	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	HPHL1_HUMAN	HEPHL1	HGNC	.	.	UPI0000237563	SNV	HEPHL1,synonymous_variant,p.%3D,ENST00000315765,;	563	147	158	SUCCESS
MAML2	84441	.	GRCh37	11	95825334	95825334	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	65	0	ENST00000524717.1:c.1861C>G	p.Gln621Glu	p.Q621E	ENST00000524717	NM_032427.1	621	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS44714.1	1861	MUTECT|MUSE	.	ACTCTGCTGTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9	.	.	ENSP00000434552	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	SNV	MAML2,missense_variant,p.Gln621Glu,ENST00000524717,;	3146	65	76	SUCCESS
SLC41A2	84102	.	GRCh37	12	105289099	105289099	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	83	0	ENST00000258538.3:c.688C>G	p.Pro230Ala	p.P230A	ENST00000258538	NM_032148.3	230	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS9100.2	688	MUTECT|MUSE	.	AATGGGTGAAT	NONE	.	.	hmmpanther:PTHR16228,hmmpanther:PTHR16228:SF25,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748	.	.	ENSP00000258538	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000258538	Transcript	.	.	ENSG00000136052	31045	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.942)	.	tolerated(0.15)	.	S41A2_HUMAN	SLC41A2	HGNC	C9JYJ7_HUMAN,C9JKF2_HUMAN,C9JIL4_HUMAN,C9JDQ2_HUMAN,C9JCR2_HUMAN,C9JA64_HUMAN	.	UPI00001FB431	SNV	SLC41A2,missense_variant,p.Pro86Ala,ENST00000437220,;SLC41A2,missense_variant,p.Pro230Ala,ENST00000258538,;	816	83	74	SUCCESS
PIWIL1	9271	.	GRCh37	12	130847644	130847644	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	6	132	0	ENST00000245255.3:c.2150T>C	p.Val717Ala	p.V717A	ENST00000245255	NM_004764.4	717	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS9268.1	2150	MUTECT|MUSE	.	CGAAGTGCCAC	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00950,Pfam_domain:PF02171,Gene3D:3.30.420.10,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31,PROSITE_profiles:PS50822	.	.	ENSP00000245255	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000245255	Transcript	.	.	ENSG00000125207	9007	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.876)	.	deleterious(0.04)	.	PIWL1_HUMAN	PIWIL1	HGNC	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN	.	UPI000007059F	SNV	PIWIL1,missense_variant,p.Val717Ala,ENST00000245255,;PIWIL1,upstream_gene_variant,,ENST00000541480,;	2422	132	141	SUCCESS
HOXC6	3223	.	GRCh37	12	54422431	54422431	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	46	157	1	ENST00000243108.4:c.126G>T	p.Ala42=	p.A42=	ENST00000243108	NM_004503.3	42	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8871.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGGCCGT	NONE	.	.	hmmpanther:PTHR24326:SF173,hmmpanther:PTHR24326	.	.	ENSP00000243108	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000243108	Transcript	.	.	ENSG00000197757	5128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC6_HUMAN	HOXC6	HGNC	D6RBH4_HUMAN	.	UPI0000020BA4	SNV	HOXC6,synonymous_variant,p.%3D,ENST00000243108,;HOXC6,5_prime_UTR_variant,,ENST00000504315,;HOXC6,5_prime_UTR_variant,,ENST00000394331,;HOXC6,intron_variant,,ENST00000509328,;HOXC4,intron_variant,,ENST00000303406,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC5,upstream_gene_variant,,ENST00000312492,;RP11-834C11.14,intron_variant,,ENST00000512206,;	290	158	132	SUCCESS
WIF1	11197	.	GRCh37	12	65471574	65471574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	106	0	ENST00000286574.4:c.349C>A	p.Pro117Thr	p.P117T	ENST00000286574	NM_007191.4	117	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8971.1	349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGGATCTG	NONE	.	.	PROSITE_profiles:PS50814,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,Pfam_domain:PF02019,SMART_domains:SM00469,Prints_domain:PR01901	.	.	ENSP00000286574	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000286574	Transcript	.	.	ENSG00000156076	18081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WIF1_HUMAN	WIF1	HGNC	F5H8A3_HUMAN,B4DX53_HUMAN	.	UPI0000038BEE	SNV	WIF1,missense_variant,p.Pro117Thr,ENST00000286574,;WIF1,missense_variant,p.Pro55Thr,ENST00000546001,;	724	106	117	SUCCESS
PTPRB	5787	.	GRCh37	12	70986218	70986218	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	153	0	ENST00000261266.5:c.970C>A	p.Leu324Met	p.L324M	ENST00000261266	NM_002837.4	324	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS44943.1	1624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGGGTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Leu324Met,ENST00000538708,;PTPRB,missense_variant,p.Leu324Met,ENST00000261266,;PTPRB,missense_variant,p.Leu542Met,ENST00000334414,;PTPRB,missense_variant,p.Leu542Met,ENST00000550358,;PTPRB,missense_variant,p.Leu324Met,ENST00000451516,;PTPRB,missense_variant,p.Leu541Met,ENST00000551525,;PTPRB,missense_variant,p.Leu421Met,ENST00000548122,;PTPRB,missense_variant,p.Leu324Met,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	1669	153	131	SUCCESS
C1RL	51279	.	GRCh37	12	7261740	7261740	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	78	0	ENST00000266542.4:c.37A>T	p.Arg13Ter	p.R13*	ENST00000266542	NM_016546.2	13	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS8573.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTCCAGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF26	.	.	ENSP00000266542	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000266542	Transcript	.	.	ENSG00000139178	21265	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1RL_HUMAN	C1RL	HGNC	.	.	UPI0000EE67FA	SNV	C1RL,stop_gained,p.Arg13Ter,ENST00000545337,;C1RL,stop_gained,p.Arg13Ter,ENST00000543933,;C1RL,stop_gained,p.Arg13Ter,ENST00000544702,;C1RL,stop_gained,p.Arg13Ter,ENST00000266542,;C1RL,stop_gained,p.Arg13Ter,ENST00000545280,;C1RL-AS1,intron_variant,,ENST00000382215,;C1RL-AS1,intron_variant,,ENST00000541775,;C1RL-AS1,intron_variant,,ENST00000435921,;C1RL-AS1,intron_variant,,ENST00000536679,;C1RL,upstream_gene_variant,,ENST00000537833,;C1RL,upstream_gene_variant,,ENST00000543941,;C1RL,upstream_gene_variant,,ENST00000539927,;C1RL,upstream_gene_variant,,ENST00000534969,;	130	78	66	SUCCESS
ACSM4	341392	.	GRCh37	12	7479610	7479610	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	83	0	ENST00000399422.4:c.1575G>T	p.Lys525Asn	p.K525N	ENST00000399422	NM_001080454.1	525	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS44825.1	1575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAGTCCTA	NONE	.	.	hmmpanther:PTHR24095:SF127,hmmpanther:PTHR24095,Pfam_domain:PF13193,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	.	.	ENSP00000382349	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000399422	Transcript	.	.	ENSG00000215009	32016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.42)	.	ACSM4_HUMAN	ACSM4	HGNC	.	.	UPI0000DD812A	SNV	ACSM4,missense_variant,p.Lys525Asn,ENST00000399422,;	1623	83	82	SUCCESS
SACS	26278	.	GRCh37	13	23909599	23909599	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs941542740	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	22	41	0	ENST00000382292.3:c.8416A>G	p.Met2806Val	p.M2806V	ENST00000382292		2806	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9300.2	8416	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATCCATAGTAT	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Met2806Val,ENST00000382292,;SACS,missense_variant,p.Met2056Val,ENST00000402364,;SACS,missense_variant,p.Met2806Val,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	9005	41	41	SUCCESS
DACH1	1602	.	GRCh37	13	72440467	72440467	+	synonymous_variant	Silent	SNP	A	A	G	rs573532758	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	21	0	ENST00000305425.4:c.441T>C	p.Ser147=	p.S147=	ENST00000305425	NM_080759.4	147	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS41899.1	441	MUTECT|MUSE	.	CTGCTACTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577	.	.	ENSP00000304994	.	1/11	.	.	.	.	.	.	.	.	rs573532758	1/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,synonymous_variant,p.%3D,ENST00000305425,;DACH1,synonymous_variant,p.%3D,ENST00000313174,;DACH1,synonymous_variant,p.%3D,ENST00000354591,;DACH1,synonymous_variant,p.%3D,ENST00000359684,;	864	21	28	SUCCESS
IGHM	3507	.	GRCh37	14	106322304	106322304	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	73	0	ENST00000390559.2:c.20C>G	p.Thr7Ser	p.T7S	ENST00000390559		7	aCc/aGc	0	.	.	.	.	.	C	T/S	IG_C_gene	YES	.	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGGTTGGG	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,PROSITE_profiles:PS50835	.	.	ENSP00000375001	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000390559	Transcript	1	.	ENSG00000211899	5541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.91)	.	.	IGHM	HGNC	Q86TT1_HUMAN	.	UPI000173A6A1	SNV	IGHM,missense_variant,p.Thr7Ser,ENST00000390559,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.2,downstream_gene_variant,,ENST00000581918,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.5,downstream_gene_variant,,ENST00000582202,;AL122127.3,downstream_gene_variant,,ENST00000580379,;AL122127.1,downstream_gene_variant,,ENST00000581354,;AL122127.4,downstream_gene_variant,,ENST00000581720,;	20	73	56	SUCCESS
OR4K1	79544	.	GRCh37	14	20404228	20404228	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs760108085	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	125	0	ENST00000285600.4:c.403A>T	p.Ile135Phe	p.I135F	ENST00000285600	NM_001004063.2	135	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS32025.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACAATTATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF182,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000285600	.	1/1	.	.	.	.	.	.	.	.	rs760108085	1/1	PASS	ENST00000285600	Transcript	.	.	ENSG00000155249	14726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0)	.	OR4K1_HUMAN	OR4K1	HGNC	.	.	UPI0000041B4A	SNV	OR4K1,missense_variant,p.Ile135Phe,ENST00000285600,;	462	125	94	SUCCESS
MYH6	4624	.	GRCh37	14	23866815	23866815	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	73	0	ENST00000356287.3:c.1899T>A	p.Ser633Arg	p.S633R	ENST00000356287		633	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS9600.1	1899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCACTGTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.38)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Ser633Arg,ENST00000405093,;MYH6,missense_variant,p.Ser633Arg,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	1970	74	59	SUCCESS
FANCM	57697	.	GRCh37	14	45650891	45650891	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	28	148	0	ENST00000267430.5:c.4369del	p.Arg1457AspfsTer4	p.R1457Dfs*4	ENST00000267430	NM_020937.2	1457	Aga/ga	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS32070.1	4369	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCGCAGATTT	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	deletion	FANCM,frameshift_variant,p.Arg390AspfsTer4,ENST00000554809,;FANCM,frameshift_variant,p.Arg1431AspfsTer4,ENST00000542564,;FANCM,frameshift_variant,p.Arg973AspfsTer4,ENST00000556250,;FANCM,frameshift_variant,p.Arg1457AspfsTer4,ENST00000267430,;FANCM,non_coding_transcript_exon_variant,,ENST00000555013,;	4454	148	173	SUCCESS
NIN	51199	.	GRCh37	14	51192620	51192620	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	7	216	0	ENST00000382041.3:c.6243C>G	p.Asn2081Lys	p.N2081K	ENST00000382041	NM_016350.4	2081	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS32079.1	6243	MUTECT|MUSE	.	CTGGAGTTAAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000371472	.	30/30	.	.	.	.	.	.	.	.	COSM553134,COSM1140522	30/30	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.005)	.	tolerated_low_confidence(0.16)	1,1	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,missense_variant,p.Asn2081Lys,ENST00000382041,;NIN,missense_variant,p.Asn1572Lys,ENST00000389869,;NIN,missense_variant,p.Asn1368Lys,ENST00000382043,;NIN,3_prime_UTR_variant,,ENST00000324330,;NIN,intron_variant,,ENST00000389868,;NIN,intron_variant,,ENST00000245441,;NIN,intron_variant,,ENST00000530997,;NIN,downstream_gene_variant,,ENST00000530853,;NIN,downstream_gene_variant,,ENST00000453196,;RP11-248J18.3,upstream_gene_variant,,ENST00000602615,;NIN,intron_variant,,ENST00000476352,;NIN,intron_variant,,ENST00000555984,;NIN,downstream_gene_variant,,ENST00000485005,;	6434	216	192	SUCCESS
MAPK1IP1L	93487	.	GRCh37	14	55529487	55529487	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs568012336	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	5	130	0	ENST00000395468.4:c.170C>A	p.Ala57Glu	p.A57E	ENST00000395468	NM_144578.3	57	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS32085.1	170	MUTECT|MUSE	.	AAGTGCAACAC	NONE	byCluster	.	.	.	.	ENSP00000378851	.	3/4	.	.	.	.	.	.	.	.	rs568012336	3/4	PASS	ENST00000395468	Transcript	.	.	ENSG00000168175	19840	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.932)	.	deleterious_low_confidence(0.04)	.	MISSL_HUMAN	MAPK1IP1L	HGNC	.	.	UPI0000034E1F	SNV	MAPK1IP1L,missense_variant,p.Ala57Glu,ENST00000395468,;MAPK1IP1L,non_coding_transcript_exon_variant,,ENST00000554364,;MAPK1IP1L,upstream_gene_variant,,ENST00000553976,;MAPK1IP1L,downstream_gene_variant,,ENST00000556515,;	347	130	102	SUCCESS
DACT1	51339	.	GRCh37	14	59112146	59112146	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	121	0	ENST00000335867.4:c.805T>C	p.Tyr269His	p.Y269H	ENST00000335867		269	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS9736.1	805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCTATCCC	CODON|p.R268H|c.803G>A|3	.	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268	.	.	ENSP00000337439	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	SNV	DACT1,missense_variant,p.Tyr269His,ENST00000335867,;DACT1,missense_variant,p.Tyr232His,ENST00000395153,;DACT1,5_prime_UTR_variant,,ENST00000556859,;DACT1,5_prime_UTR_variant,,ENST00000421793,;DACT1,5_prime_UTR_variant,,ENST00000541264,;DACT1,non_coding_transcript_exon_variant,,ENST00000555845,;	829	121	96	SUCCESS
NPAP1	23742	.	GRCh37	15	24924458	24924458	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	79	1	ENST00000329468.2:c.3444G>T	p.Arg1148Ser	p.R1148S	ENST00000329468	NM_018958.2	1148	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS10015.1	3444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGGAGACA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	COSM3500156	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.765)	.	deleterious_low_confidence(0)	1	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Arg1148Ser,ENST00000329468,;	3918	80	85	SUCCESS
ATP10A	57194	.	GRCh37	15	25959142	25959142	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764238167	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	48	0	ENST00000356865.6:c.2023G>C	p.Asp675His	p.D675H	ENST00000356865	NM_024490.3	675	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS32178.1	2023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCCGCCT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710	.	.	ENSP00000349325	.	10/21	.	.	.	.	.	.	.	.	rs764238167,COSM3987883	10/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.021)	.	tolerated(0.06)	0,1	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Asp675His,ENST00000356865,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;	2135	48	44	SUCCESS
PPIP5K1	9677	.	GRCh37	15	43873588	43873588	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	rs770698845	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	44	232	0	ENST00000396923.3:c.778-2A>T		p.X260_splice	ENST00000396923		260		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45252.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCTGCAGG	NONE	byFrequency	.	.	.	.	ENSP00000400887	.	.	.	.	.	.	.	.	.	.	rs770698845	.	PASS	ENST00000420765	Transcript	.	.	ENSG00000168781	29023	.	.	HIGH	8/30	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VIP1_HUMAN	PPIP5K1	HGNC	C9JZX6_HUMAN,C9J5E6_HUMAN,C9J490_HUMAN	.	UPI00001CE036	SNV	PPIP5K1,splice_acceptor_variant,,ENST00000396923,;PPIP5K1,splice_acceptor_variant,,ENST00000381885,;PPIP5K1,splice_acceptor_variant,,ENST00000360135,;PPIP5K1,splice_acceptor_variant,,ENST00000334933,;PPIP5K1,splice_acceptor_variant,,ENST00000360301,;PPIP5K1,splice_acceptor_variant,,ENST00000381879,;PPIP5K1,splice_acceptor_variant,,ENST00000420765,;PPIP5K1,splice_acceptor_variant,,ENST00000348806,;PPIP5K1,downstream_gene_variant,,ENST00000453080,;PPIP5K1,downstream_gene_variant,,ENST00000431962,;PPIP5K1,downstream_gene_variant,,ENST00000417085,;PPIP5K1,downstream_gene_variant,,ENST00000429176,;PPIP5K1,splice_acceptor_variant,,ENST00000432870,;PPIP5K1,splice_acceptor_variant,,ENST00000488768,;PPIP5K1,missense_variant,p.Arg81Trp,ENST00000427877,;PPIP5K1,downstream_gene_variant,,ENST00000476294,;PPIP5K1,upstream_gene_variant,,ENST00000465123,;PPIP5K1,downstream_gene_variant,,ENST00000472547,;	.	232	246	SUCCESS
CTDSPL2	51496	.	GRCh37	15	44783063	44783063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	254	147	367	1	ENST00000260327.4:c.557A>T	p.Glu186Val	p.E186V	ENST00000260327	NM_016396.2	186	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10110.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGAGATCA	NONE	.	.	hmmpanther:PTHR12210	.	.	ENSP00000260327	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000260327	Transcript	.	.	ENSG00000137770	26936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	CTSL2_HUMAN	CTDSPL2	HGNC	H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN	.	UPI000004A0B3	SNV	CTDSPL2,missense_variant,p.Glu186Val,ENST00000558966,;CTDSPL2,missense_variant,p.Glu186Val,ENST00000260327,;CTDSPL2,intron_variant,,ENST00000396780,;CTDSPL2,intron_variant,,ENST00000558373,;CTDSPL2,downstream_gene_variant,,ENST00000559793,;CTDSPL2,downstream_gene_variant,,ENST00000558791,;CTDSPL2,upstream_gene_variant,,ENST00000561189,;	1120	368	402	SUCCESS
CYP11A1	1583	.	GRCh37	15	74637456	74637456	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763099365	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	105	0	ENST00000268053.6:c.554G>A	p.Arg185His	p.R185H	ENST00000268053	NM_000781.2	185	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS32291.1	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCGCCTG	NONE	byFrequency	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF3	.	.	ENSP00000268053	.	3/9	.	.	.	.	.	.	.	.	rs763099365,COSM701210	3/9	PASS	ENST00000268053	Transcript	1	.	ENSG00000140459	2590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.185)	.	deleterious(0)	0,1	CP11A_HUMAN	CYP11A1	HGNC	Q2HZF3_HUMAN,H3BSZ1_HUMAN,H3BS93_HUMAN,C9JPU9_HUMAN	.	UPI00000725F7	SNV	CYP11A1,missense_variant,p.Arg27His,ENST00000358632,;CYP11A1,missense_variant,p.Arg27His,ENST00000419019,;CYP11A1,missense_variant,p.Arg185His,ENST00000268053,;CYP11A1,missense_variant,p.Arg27His,ENST00000566674,;CYP11A1,missense_variant,p.Arg27His,ENST00000450547,;CYP11A1,incomplete_terminal_codon_variant,p.%3D,ENST00000569662,;CYP11A1,intron_variant,,ENST00000541301,;CYP11A1,downstream_gene_variant,,ENST00000416978,;CYP11A1,missense_variant,p.Arg185His,ENST00000435365,;CYP11A1,downstream_gene_variant,,ENST00000466978,;	709	105	114	SUCCESS
IQGAP1	8826	.	GRCh37	15	90977012	90977012	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	43	106	0	ENST00000268182.5:c.452G>C	p.Cys151Ser	p.C151S	ENST00000268182	NM_003870.3	151	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS10362.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGTATCC	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15,PROSITE_profiles:PS50021	.	.	ENSP00000268182	.	5/38	.	.	.	.	.	.	.	.	COSM702133	5/38	PASS	ENST00000268182	Transcript	.	.	ENSG00000140575	6110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0)	1	IQGA1_HUMAN	IQGAP1	HGNC	H0YKA5_HUMAN	.	UPI000012D863	SNV	IQGAP1,missense_variant,p.Cys7Ser,ENST00000560418,;IQGAP1,missense_variant,p.Cys151Ser,ENST00000268182,;IQGAP1,intron_variant,,ENST00000560738,;IQGAP1,downstream_gene_variant,,ENST00000559682,;	576	106	137	SUCCESS
MCTP2	55784	.	GRCh37	15	95001427	95001427	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	37	133	0	ENST00000357742.4:c.2312T>C	p.Val771Ala	p.V771A	ENST00000357742	NM_018349.3	771	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32338.1	2312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGTTCAAA	NONE	.	.	hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5,Pfam_domain:PF08372	.	.	ENSP00000350377	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Val771Ala,ENST00000357742,;MCTP2,missense_variant,p.Val716Ala,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;	2312	133	157	SUCCESS
ACSM2A	123876	.	GRCh37	16	20497911	20497911	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	65	173	0	ENST00000219054.6:c.1645A>C	p.Asn549His	p.N549H	ENST00000219054		549	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS32401.1	1645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGAACCTG	NONE	.	.	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF140,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801	.	.	ENSP00000459451	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000573854	Transcript	.	.	ENSG00000183747	32017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.476)	.	deleterious(0.03)	.	ACS2A_HUMAN	ACSM2A	HGNC	I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN	.	UPI0000251E27	SNV	ACSM2A,missense_variant,p.Asn549His,ENST00000575690,;ACSM2A,missense_variant,p.Asn549His,ENST00000573854,;ACSM2A,missense_variant,p.Asn321His,ENST00000536134,;ACSM2A,missense_variant,p.Asn549His,ENST00000219054,;ACSM2A,missense_variant,p.Asn470His,ENST00000417235,;ACSM2A,missense_variant,p.Asn549His,ENST00000396104,;AC137056.1,upstream_gene_variant,,ENST00000593357,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000576119,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000572843,;ACSM2A,downstream_gene_variant,,ENST00000576101,;	1759	173	99	SUCCESS
SRRM2	23524	.	GRCh37	16	2812955	2812955	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	73	0	ENST00000301740.8:c.2426G>T	p.Arg809Ile	p.R809I	ENST00000301740	NM_016333.3	809	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS32373.1	2426	MUTECT|MUSE	.	ATCTAGAACGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,missense_variant,p.Arg809Ile,ENST00000576924,;SRRM2,missense_variant,p.Arg713Ile,ENST00000571378,;SRRM2,missense_variant,p.Arg809Ile,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000572952,;	2975	73	42	SUCCESS
RABEP2	79874	.	GRCh37	16	28925798	28925798	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765092338	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	58	114	0	ENST00000358201.4:c.653G>T	p.Gly218Val	p.G218V	ENST00000358201	NM_024816.2	218	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42140.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACCCCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31179:SF6,hmmpanther:PTHR31179	.	.	ENSP00000350934	.	5/13	.	.	.	.	.	.	.	.	rs765092338	5/13	PASS	ENST00000358201	Transcript	.	.	ENSG00000177548	24817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	deleterious(0)	.	RABE2_HUMAN	RABEP2	HGNC	H3BU67_HUMAN,H3BNR8_HUMAN,H3BNR2_HUMAN	.	UPI0000367822	SNV	RABEP2,missense_variant,p.Gly147Val,ENST00000544477,;RABEP2,missense_variant,p.Gly208Val,ENST00000567483,;RABEP2,missense_variant,p.Gly165Val,ENST00000568703,;RABEP2,missense_variant,p.Gly218Val,ENST00000358201,;RABEP2,missense_variant,p.Gly218Val,ENST00000357573,;RABEP2,downstream_gene_variant,,ENST00000561501,;RABEP2,downstream_gene_variant,,ENST00000566762,;RABEP2,downstream_gene_variant,,ENST00000562475,;RABEP2,downstream_gene_variant,,ENST00000561803,;RABEP2,downstream_gene_variant,,ENST00000564473,;RABEP2,non_coding_transcript_exon_variant,,ENST00000562590,;	1242	115	83	SUCCESS
PPL	5493	.	GRCh37	16	4937194	4937194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	30	75	0	ENST00000345988.2:c.2549A>T	p.Tyr850Phe	p.Y850F	ENST00000345988	NM_002705.4	850	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10526.1	2549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATAAACT	NONE	.	.	hmmpanther:PTHR23169,SMART_domains:SM00150	.	.	ENSP00000340510	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000345988	Transcript	.	.	ENSG00000118898	9273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.12)	.	PEPL_HUMAN	PPL	HGNC	.	.	UPI00001AE832	SNV	PPL,missense_variant,p.Tyr271Phe,ENST00000592772,;PPL,missense_variant,p.Tyr848Phe,ENST00000590782,;PPL,missense_variant,p.Tyr850Phe,ENST00000345988,;UBN1,downstream_gene_variant,,ENST00000262376,;UBN1,downstream_gene_variant,,ENST00000545171,;UBN1,downstream_gene_variant,,ENST00000396658,;PPL,downstream_gene_variant,,ENST00000590093,;PPL,downstream_gene_variant,,ENST00000589090,;	2639	75	56	SUCCESS
ZNF423	23090	.	GRCh37	16	49660081	49660081	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	rs1555513517	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	37	113	0	ENST00000262383.2:c.3577G>T	p.Glu1193Ter	p.E1193*	ENST00000262383		1193	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32445.1	3577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCAATCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385,Superfamily_domains:SSF57667	.	.	ENSP00000455426	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,stop_gained,p.Glu1193Ter,ENST00000262383,;ZNF423,stop_gained,p.Glu1133Ter,ENST00000563137,;ZNF423,stop_gained,p.Glu1133Ter,ENST00000562520,;ZNF423,stop_gained,p.Glu1193Ter,ENST00000561648,;ZNF423,stop_gained,p.Glu1076Ter,ENST00000567169,;ZNF423,stop_gained,p.Glu1076Ter,ENST00000535559,;ZNF423,stop_gained,p.Glu1133Ter,ENST00000562871,;	3631	113	56	SUCCESS
ZNF469	84627	.	GRCh37	16	88500501	88500501	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	48	108	0	ENST00000437464.1:c.6539A>T	p.Glu2180Val	p.E2180V	ENST00000437464	NM_001127464.1	2180	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS45544.1	6539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGAAGCCC	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Glu2208Val,ENST00000565624,;ZNF469,missense_variant,p.Glu2180Val,ENST00000437464,;	6539	108	71	SUCCESS
GJD3	125111	.	GRCh37	17	38519621	38519621	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	18	0	ENST00000578689.1:c.447C>T	p.Thr149=	p.T149=	ENST00000578689	NM_152219.3	149	acC/acT	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGGTCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000462786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000578774	Transcript	.	.	ENSG00000266208	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.35)	.	.	CTD-2267D19.3	Clone_based_vega_gene	J3KT39_HUMAN	.	UPI0000D47800	SNV	CTD-2267D19.3,missense_variant,p.Gly145Ser,ENST00000578774,;GJD3,synonymous_variant,p.%3D,ENST00000337376,;GJD3,synonymous_variant,p.%3D,ENST00000578689,;CTD-2267D19.4,upstream_gene_variant,,ENST00000583752,;	770	18	29	SUCCESS
PHF23	79142	.	GRCh37	17	7140034	7140034	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs563385673	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	44	0	ENST00000320316.3:c.212C>T	p.Ala71Val	p.A71V	ENST00000320316	NM_024297.2	71	gCg/gTg	0	.	A:0.0008	.	A:0	.	A	A/V	protein_coding	YES	CCDS42250.1	212	MUTECT|MUSE	.	CGGCCGCACTC	NONE	by1000G	.	hmmpanther:PTHR14571,hmmpanther:PTHR14571:SF8	A:0	.	ENSP00000322579	A:0	4/5	.	.	.	.	.	.	.	.	rs563385673	4/5	PASS	ENST00000320316	Transcript	.	A:0.0002	ENSG00000040633	28428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.779)	A:0	tolerated(0.26)	.	PHF23_HUMAN	PHF23	HGNC	I3L410_HUMAN,I3L2W6_HUMAN,I3L1N0_HUMAN,I3L0X3_HUMAN	.	UPI000006CD0D	SNV	PHF23,missense_variant,p.Ala67Val,ENST00000454255,;PHF23,missense_variant,p.Ala75Val,ENST00000570899,;PHF23,missense_variant,p.Ala62Val,ENST00000573826,;PHF23,missense_variant,p.Ala71Val,ENST00000320316,;PHF23,5_prime_UTR_variant,,ENST00000572789,;PHF23,5_prime_UTR_variant,,ENST00000574323,;PHF23,5_prime_UTR_variant,,ENST00000574236,;PHF23,5_prime_UTR_variant,,ENST00000576955,;PHF23,5_prime_UTR_variant,,ENST00000574407,;PHF23,intron_variant,,ENST00000571362,;GABARAP,downstream_gene_variant,,ENST00000302386,;GABARAP,downstream_gene_variant,,ENST00000571129,;GABARAP,downstream_gene_variant,,ENST00000571253,;DVL2,upstream_gene_variant,,ENST00000575458,;GABARAP,downstream_gene_variant,,ENST00000573928,;GABARAP,downstream_gene_variant,,ENST00000577035,;DVL2,upstream_gene_variant,,ENST00000575756,;DVL2,upstream_gene_variant,,ENST00000005340,;DVL2,upstream_gene_variant,,ENST00000574143,;PHF23,non_coding_transcript_exon_variant,,ENST00000570753,;PHF23,non_coding_transcript_exon_variant,,ENST00000574899,;DVL2,upstream_gene_variant,,ENST00000576949,;CTD-2545G14.7,downstream_gene_variant,,ENST00000570760,;DVL2,upstream_gene_variant,,ENST00000572285,;GABARAP,downstream_gene_variant,,ENST00000570856,;	439	44	22	SUCCESS
TP53	7157	.	GRCh37	17	7577545	7577545	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs483352695	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	36	113	0	ENST00000269305.4:c.736A>G	p.Met246Val	p.M246V	ENST00000269305	NM_001126112.2	246	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS11118.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	GTTCATGCCGC	SITE|p.M246V|c.736A>G|7,SITE|p.M153V|c.457A>G|7,SITE|p.M246V|c.736A>G|3,SITE|p.M246V|c.736A>G|35,SITE|p.M246V|c.736A>G|7,SITE|p.M246V|c.736A>G|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.M153I|c.459G>C|3,CODON|p.M246I|c.738G>C|3,CODON|p.M246I|c.738G>A|21,CODON|p.M246I|c.738G>C|3,CODON|p.M246I|c.738G>C|4,CODON|p.M246R|c.737T>G|3,CODON|p.M246R|c.737T>G|12,CODON|p.M246R|c.737T>G|3,CODON|p.M246T|c.737T>C|8,CODON|p.M153R|c.458T>G|3,CODON|p.M246K|c.737T>A|7,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.G245G|c.735C>T|5,BUFFER|p.G245D|c.734G>A|10,BUFFER|p.G245V|c.734G>T|3,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245A|c.734G>C|8,BUFFER|p.G152D|c.455G>A|23,BUFFER|p.G152V|c.455G>T|15,BUFFER|p.G245V|c.734G>T|10,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245D|c.734G>A|119,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245D|c.734G>A|7,BUFFER|p.G245V|c.734G>T|69,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6,BUFFER|p.G244fs*3|c.730delG|4,BUFFER|p.G151D|c.452G>A|8,BUFFER|p.G244D|c.731G>A|42,BUFFER|p.G244D|c.731G>A|3,BUFFER|p.G244D|c.731G>A|8,BUFFER|p.G244A|c.731G>C|8,BUFFER|p.G244D|c.731G>A|8,BUFFER|p.G244V|c.731G>T|15,BUFFER|p.G244C|c.730G>T|43,BUFFER|p.G244S|c.730G>A|6,BUFFER|p.G244C|c.730G>T|3,BUFFER|p.G244S|c.730G>A|5,BUFFER|p.G244C|c.730G>T|9,BUFFER|p.G244R|c.730G>C|5,BUFFER|p.G244C|c.730G>T|9,BUFFER|p.G244S|c.730G>A|9,BUFFER|p.G244S|c.730G>A|42,BUFFER|p.G151C|c.451G>T|9,BUFFER|p.G151S|c.451G>A|9,BUFFER|p.G244S|c.730G>A|8,BUFFER|p.G244C|c.730G>T|6,BUFFER|p.M243I|c.729G>A|5,BUFFER|p.M243T|c.728T>C|5,BUFFER|p.N239_C242delNSSC|c.715_726del12|3,BUFFER|p.M243L|c.727A>C|4,BUFFER|p.M243V|c.727A>G|3,BUFFER|p.M243L|c.727A>T|6,BUFFER|p.C242W|c.726C>G|3,BUFFER|p.C242*|c.726C>A|3,BUFFER|p.C242W|c.726C>G|3,BUFFER|p.C242W|c.726C>G|9,BUFFER|p.C149W|c.447C>G|3,BUFFER|p.C242S|c.725G>C|3,BUFFER|p.C242Y|c.725G>A|4,BUFFER|p.C242S|c.725G>C|4,BUFFER|p.C242Y|c.725G>A|42,BUFFER|p.C242Y|c.725G>A|4,BUFFER|p.C242F|c.725G>T|11,BUFFER|p.C149Y|c.446G>A|4,BUFFER|p.C242F|c.725G>T|11,BUFFER|p.C242S|c.725G>C|3,BUFFER|p.C242F|c.725G>T|71,BUFFER|p.C149S|c.446G>C|4,BUFFER|p.C149F|c.446G>T|11,BUFFER|p.C242F|c.725G>T|4,BUFFER|p.C242S|c.725G>C|20,BUFFER|p.C242S|c.725G>C|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs483352695,CM942294,TP53_g.13373A>T,TP53_g.13373A>G,TP53_g.13373A>C,TP53_g.13373del,COSM43555,COSM44903,COSM45992,COSM251430,COSM251429,COSM3958808,COSM1726382,COSM251431	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.947)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Met246Val,ENST00000413465,;TP53,missense_variant,p.Met246Val,ENST00000420246,;TP53,missense_variant,p.Met246Val,ENST00000269305,;TP53,missense_variant,p.Met114Val,ENST00000509690,;TP53,missense_variant,p.Met246Val,ENST00000359597,;TP53,missense_variant,p.Met153Val,ENST00000514944,;TP53,missense_variant,p.Met246Val,ENST00000445888,;TP53,missense_variant,p.Met246Val,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	926	113	61	SUCCESS
SMCHD1	23347	.	GRCh37	18	2762109	2762109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1598416020	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	56	145	0	ENST00000320876.6:c.4441G>A	p.Val1481Ile	p.V1481I	ENST00000320876	NM_015295.2	1481	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS45822.1	4441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATAGTTGAA	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	36/48	.	.	.	.	.	.	.	.	.	36/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.56)	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,missense_variant,p.Val1481Ile,ENST00000320876,;SMCHD1,missense_variant,p.Val1481Ile,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Val952Ile,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000583344,;	4779	145	132	SUCCESS
ZNF844	284391	.	GRCh37	19	12186502	12186502	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	9	164	0	ENST00000439326.3:c.567A>T	p.Ile189=	p.I189=	ENST00000439326	NM_001136501.1	189	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS45985.1	567	MUTECT|MUSE|VARSCANS	.	ATGATAATGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000392024	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000439326	Transcript	.	.	ENSG00000223547	25932	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN844_HUMAN	ZNF844	HGNC	F8VS19_HUMAN	.	UPI0000185F5D	SNV	ZNF844,synonymous_variant,p.%3D,ENST00000439326,;ZNF844,synonymous_variant,p.%3D,ENST00000550826,;ZNF844,3_prime_UTR_variant,,ENST00000441304,;	742	164	92	SUCCESS
RYR1	6261	.	GRCh37	19	38979817	38979817	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	22	55	0	ENST00000359596.3:c.5548G>T	p.Val1850Leu	p.V1850L	ENST00000359596		1850	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS33011.1	5548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGTGATG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	35/106	.	.	.	.	.	.	.	.	.	35/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Val1850Leu,ENST00000355481,;RYR1,missense_variant,p.Val1850Leu,ENST00000360985,;RYR1,missense_variant,p.Val1850Leu,ENST00000359596,;	5548	55	35	SUCCESS
RYR1	6261	.	GRCh37	19	38995537	38995537	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	52	99	0	ENST00000359596.3:c.8217T>A	p.Pro2739=	p.P2739=	ENST00000359596		2739	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33011.1	8217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCTGTGGA	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026	.	.	ENSP00000352608	.	51/106	.	.	.	.	.	.	.	.	.	51/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;RYR1,synonymous_variant,p.%3D,ENST00000594335,;	8217	99	76	SUCCESS
RYR1	6261	.	GRCh37	19	39009927	39009927	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	68	130	0	ENST00000359596.3:c.10092G>A	p.Arg3364=	p.R3364=	ENST00000359596		3364	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33011.1	10092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGGCTGCG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	67/106	.	.	.	.	.	.	.	.	.	67/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000599547,;RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;RYR1,3_prime_UTR_variant,,ENST00000594335,;RYR1,upstream_gene_variant,,ENST00000600337,;	10092	130	94	SUCCESS
RFX2	5990	.	GRCh37	19	6013025	6013025	+	synonymous_variant	Silent	SNP	G	G	T	rs772420460	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	21	37	0	ENST00000303657.5:c.871C>A	p.Arg291=	p.R291=	ENST00000303657	NM_000635.3	291	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12157.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCATGG	NONE	.	.	hmmpanther:PTHR12619:SF20,hmmpanther:PTHR12619	.	.	ENSP00000306335	.	8/18	.	.	.	.	.	.	.	.	rs772420460	8/18	PASS	ENST00000303657	Transcript	.	.	ENSG00000087903	9983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFX2_HUMAN	RFX2	HGNC	Q75MR3_HUMAN,K7ES56_HUMAN,K7EQY9_HUMAN,K7EQA0_HUMAN,K7ENC9_HUMAN,K7EJE4_HUMAN,K7EJD4_HUMAN,K7EIN5_HUMAN	.	UPI000013D4B1	SNV	RFX2,synonymous_variant,p.%3D,ENST00000359161,;RFX2,synonymous_variant,p.%3D,ENST00000303657,;RFX2,synonymous_variant,p.%3D,ENST00000592546,;RFX2,synonymous_variant,p.%3D,ENST00000586806,;RFX2,intron_variant,,ENST00000589742,;RFX2,upstream_gene_variant,,ENST00000589340,;RFX2,downstream_gene_variant,,ENST00000587321,;CTC-232P5.1,intron_variant,,ENST00000587836,;RFX2,non_coding_transcript_exon_variant,,ENST00000592337,;RFX2,non_coding_transcript_exon_variant,,ENST00000588021,;	1021	37	27	SUCCESS
CLEC4G	339390	.	GRCh37	19	7795018	7795018	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs778258404	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	123	0	ENST00000328853.5:c.514T>A	p.Phe172Ile	p.F172I	ENST00000328853	NM_001244856.1	172	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS12185.1	514	MUTECT|MUSE	.	CTCGAAGGACA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF206,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000327599	.	7/9	.	.	.	.	.	.	.	.	rs778258404	7/9	PASS	ENST00000328853	Transcript	.	.	ENSG00000182566	24591	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	CLC4G_HUMAN	CLEC4G	HGNC	Q08G24_HUMAN	.	UPI000004C65D	SNV	CLEC4G,missense_variant,p.Phe172Ile,ENST00000328853,;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;	583	123	80	SUCCESS
DBT	1629	.	GRCh37	1	100681590	100681590	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	51	107	0	ENST00000370132.4:c.721G>A	p.Val241Ile	p.V241I	ENST00000370132	NM_001918.3	241	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS767.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATACTAGTA	NONE	.	.	hmmpanther:PTHR23151:SF46,hmmpanther:PTHR23151,Gene3D:3.30.559.10,Superfamily_domains:SSF52777	.	.	ENSP00000359151	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000370132	Transcript	.	.	ENSG00000137992	2698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.43)	.	ODB2_HUMAN	DBT	HGNC	.	.	UPI000013D0E7	SNV	DBT,missense_variant,p.Val241Ile,ENST00000370131,;DBT,missense_variant,p.Val241Ile,ENST00000370132,;BRI3P1,downstream_gene_variant,,ENST00000440440,;	735	107	86	SUCCESS
PRAMEF7	441871	.	GRCh37	1	12979853	12979853	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	327	127	396	1	ENST00000330881.5:c.1045A>T	p.Thr349Ser	p.T349S	ENST00000330881	NM_001012277.1	349	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS30593.1	1045	RADIA|MUTECT|MUSE	.	TGGCCACCCTG	NONE	.	.	Superfamily_domains:SSF52047,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,hmmpanther:PTHR14224:SF30,hmmpanther:PTHR14224	.	.	ENSP00000354371	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361079	Transcript	.	.	ENSG00000204510	28415	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	.	.	PRAM7_HUMAN	PRAMEF7	HGNC	.	.	UPI0000418E5C	SNV	PRAMEF7,missense_variant,p.Thr349Ser,ENST00000330881,;PRAMEF7,missense_variant,p.Thr349Ser,ENST00000361079,;RNU6-1072P,upstream_gene_variant,,ENST00000384703,;	1128	398	454	SUCCESS
KPRP	448834	.	GRCh37	1	152733603	152733603	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	98	0	ENST00000606109.1:c.1539A>T	p.Leu513=	p.L513=	ENST00000606109		513	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30862.1	1539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTAGGCTG	NONE	.	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,synonymous_variant,p.%3D,ENST00000368773,;KPRP,synonymous_variant,p.%3D,ENST00000606109,;	1597	98	118	SUCCESS
OR6P1	128366	.	GRCh37	1	158532597	158532597	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs142215019	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	30	105	0	ENST00000334632.1:c.798C>A	p.Tyr266Ter	p.Y266*	ENST00000334632	NM_001160325.1	266	taC/taA	0	T:0	T:0	.	T:0	.	T	Y/*	protein_coding	YES	CCDS53391.1	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGTACAT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	T:0	T:0.0028	ENSP00000334721	T:0.005	1/1	.	.	.	.	.	.	.	.	rs142215019	1/1	common_in_exac	ENST00000334632	Transcript	.	T:0.0010	ENSG00000186440	15036	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,stop_gained,p.Tyr266Ter,ENST00000334632,;	798	105	141	SUCCESS
PYHIN1	149628	.	GRCh37	1	158911830	158911830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	66	156	1	ENST00000368140.1:c.643A>T	p.Ile215Leu	p.I215L	ENST00000368140	NM_152501.4	215	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS1178.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAATAATC	NONE	.	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200,Pfam_domain:PF02760,Gene3D:2.40.50.140,Superfamily_domains:SSF159141	.	.	ENSP00000357122	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.85)	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,missense_variant,p.Ile215Leu,ENST00000392254,;PYHIN1,missense_variant,p.Ile215Leu,ENST00000368140,;PYHIN1,missense_variant,p.Ile206Leu,ENST00000392252,;PYHIN1,missense_variant,p.Ile206Leu,ENST00000368138,;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;	888	157	188	SUCCESS
CACNA1E	777	.	GRCh37	1	181705462	181705462	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	53	166	0	ENST00000367573.2:c.3314G>T	p.Arg1105Ile	p.R1105I	ENST00000367573	NM_001205293.1	1105	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS55664.1	3314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCAGAGAGG	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000356545	.	22/48	.	.	.	.	.	.	.	.	.	22/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.07)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Arg1037Ile,ENST00000358338,;CACNA1E,missense_variant,p.Arg712Ile,ENST00000367567,;CACNA1E,missense_variant,p.Arg1056Ile,ENST00000357570,;CACNA1E,missense_variant,p.Arg1086Ile,ENST00000360108,;CACNA1E,missense_variant,p.Arg1086Ile,ENST00000526775,;CACNA1E,missense_variant,p.Arg1105Ile,ENST00000367573,;CACNA1E,missense_variant,p.Arg1105Ile,ENST00000367570,;	3314	166	150	SUCCESS
PM20D1	148811	.	GRCh37	1	205811830	205811830	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	37	0	ENST00000367136.4:c.877A>T	p.Thr293Ser	p.T293S	ENST00000367136	NM_152491.4	293	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1460.1	877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTCACCA	NONE	.	.	hmmpanther:PTHR11014:SF66,hmmpanther:PTHR11014,Gene3D:3.30.70.360,Pfam_domain:PF07687,Pfam_domain:PF01546	.	.	ENSP00000356104	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000367136	Transcript	.	.	ENSG00000162877	26518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.73)	.	P20D1_HUMAN	PM20D1	HGNC	.	.	UPI00003665FD	SNV	PM20D1,missense_variant,p.Thr293Ser,ENST00000367136,;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,upstream_gene_variant,,ENST00000461807,;	922	37	41	SUCCESS
HSPG2	3339	.	GRCh37	1	22163367	22163367	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1162141885	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	860	510	1291	0	ENST00000374695.3:c.10283G>A	p.Gly3428Asp	p.G3428D	ENST00000374695	NM_005529.5	3428	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS30625.1	10283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTACCCCGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000363827	.	75/97	.	.	.	.	.	.	.	.	.	75/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Gly3428Asp,ENST00000374695,;HSPG2,intron_variant,,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000426143,;HSPG2,non_coding_transcript_exon_variant,,ENST00000471322,;HSPG2,upstream_gene_variant,,ENST00000469378,;	10363	1291	1370	SUCCESS
OR2T11	127077	.	GRCh37	1	248790047	248790047	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	65	161	0	ENST00000330803.2:c.383G>C	p.Arg128Thr	p.R128T	ENST00000330803	NM_001001964.1	128	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS31122.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTATCTCAGA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF173,PROSITE_profiles:PS50262	.	.	ENSP00000328934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330803	Transcript	.	.	ENSG00000183130	19574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	O2T11_HUMAN	OR2T11	HGNC	.	.	UPI000004F23F	SNV	OR2T11,missense_variant,p.Arg128Thr,ENST00000330803,;	445	161	172	SUCCESS
GJA9	81025	.	GRCh37	1	39341854	39341854	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	33	211	0	ENST00000357771.3:c.-84G>T		p.*28*	ENST00000357771	NM_030772.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS432.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCTTAAA	NONE	.	.	.	.	.	ENSP00000350415	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357771	Transcript	.	.	ENSG00000131233	19155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CXA9_HUMAN	GJA9	HGNC	.	.	UPI000006E09A	SNV	GJA9,5_prime_UTR_variant,,ENST00000454994,;GJA9,5_prime_UTR_variant,,ENST00000357771,;GJA9,5_prime_UTR_variant,,ENST00000360786,;MYCBP,upstream_gene_variant,,ENST00000397572,;RP5-864K19.4,non_coding_transcript_exon_variant,,ENST00000443161,;RP5-864K19.4,non_coding_transcript_exon_variant,,ENST00000456813,;RP5-864K19.4,intron_variant,,ENST00000433671,;MYCBP,non_coding_transcript_exon_variant,,ENST00000489803,;MYCBP,non_coding_transcript_exon_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000465771,;MYCBP,upstream_gene_variant,,ENST00000462027,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000494695,;	198	211	227	SUCCESS
SERBP1	26135	.	GRCh37	1	67885696	67885696	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	89	354	0	ENST00000370995.2:c.992A>G	p.Glu331Gly	p.E331G	ENST00000370995		331	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS30746.1	992	RADIA|MUTECT|MUSE	.	CCTCTTCACTC	NONE	.	.	hmmpanther:PTHR12299:SF22,hmmpanther:PTHR12299	.	.	ENSP00000360034	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000370995	Transcript	.	.	ENSG00000142864	17860	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.068)	.	deleterious(0.01)	.	PAIRB_HUMAN	SERBP1	HGNC	.	.	UPI0000036970	SNV	SERBP1,missense_variant,p.Glu331Gly,ENST00000370995,;SERBP1,missense_variant,p.Glu310Gly,ENST00000370994,;SERBP1,missense_variant,p.Glu316Gly,ENST00000361219,;SERBP1,missense_variant,p.Glu325Gly,ENST00000370990,;RNU6-387P,downstream_gene_variant,,ENST00000411331,;SERBP1,non_coding_transcript_exon_variant,,ENST00000484880,;SERBP1,non_coding_transcript_exon_variant,,ENST00000493607,;SERBP1,non_coding_transcript_exon_variant,,ENST00000462814,;SERBP1,downstream_gene_variant,,ENST00000490406,;	1078	354	172	SUCCESS
SERBP1	26135	.	GRCh37	1	67885701	67885701	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	96	360	0	ENST00000370995.2:c.987G>C	p.Lys329Asn	p.K329N	ENST00000370995		329	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS30746.1	987	RADIA|MUTECT|MUSE	.	TCACTCTTTGA	NONE	.	.	hmmpanther:PTHR12299:SF22,hmmpanther:PTHR12299	.	.	ENSP00000360034	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000370995	Transcript	.	.	ENSG00000142864	17860	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PAIRB_HUMAN	SERBP1	HGNC	.	.	UPI0000036970	SNV	SERBP1,missense_variant,p.Lys329Asn,ENST00000370995,;SERBP1,missense_variant,p.Lys308Asn,ENST00000370994,;SERBP1,missense_variant,p.Lys314Asn,ENST00000361219,;SERBP1,missense_variant,p.Lys323Asn,ENST00000370990,;RNU6-387P,downstream_gene_variant,,ENST00000411331,;SERBP1,non_coding_transcript_exon_variant,,ENST00000484880,;SERBP1,non_coding_transcript_exon_variant,,ENST00000493607,;SERBP1,non_coding_transcript_exon_variant,,ENST00000462814,;SERBP1,downstream_gene_variant,,ENST00000490406,;	1073	360	180	SUCCESS
ZZZ3	26009	.	GRCh37	1	78041825	78041825	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	10	162	0	ENST00000370801.3:c.2259A>T	p.Pro753=	p.P753=	ENST00000370801	NM_015534.4	753	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS677.1	2259	RADIA|MUTECT|MUSE|VARSCANS	.	TACACTGGCGG	NONE	.	.	hmmpanther:PTHR22705	.	.	ENSP00000359837	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000370801	Transcript	.	.	ENSG00000036549	24523	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZZZ3_HUMAN	ZZZ3	HGNC	C9JUA4_HUMAN,C9J283_HUMAN	.	UPI0000074256	SNV	ZZZ3,synonymous_variant,p.%3D,ENST00000370801,;ZZZ3,synonymous_variant,p.%3D,ENST00000370798,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000481346,;ZZZ3,downstream_gene_variant,,ENST00000476195,;	2735	163	87	SUCCESS
RERE	473	.	GRCh37	1	8585826	8585826	+	intron_variant	Intron	SNP	G	G	A	rs761690074	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	96	0	ENST00000337907.3:c.830+15447C>T		p.*277*	ENST00000337907	NM_012102.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS95.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCTGAA	NONE	byFrequency	.	.	.	.	ENSP00000338629	.	.	.	.	.	.	.	.	.	.	rs761690074	.	PASS	ENST00000337907	Transcript	.	.	ENSG00000142599	9965	.	.	MODIFIER	8/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RERE_HUMAN	RERE	HGNC	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN	.	UPI00001419CC	SNV	RERE,synonymous_variant,p.%3D,ENST00000377464,;RERE,5_prime_UTR_variant,,ENST00000464972,;RERE,intron_variant,,ENST00000400908,;RERE,intron_variant,,ENST00000337907,;RERE,intron_variant,,ENST00000400907,;RERE,non_coding_transcript_exon_variant,,ENST00000507012,;RERE,intron_variant,,ENST00000480342,;	.	96	100	SUCCESS
RERE	473	.	GRCh37	1	8585827	8585827	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	94	0	ENST00000337907.3:c.830+15446G>A		p.*277*	ENST00000337907	NM_012102.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS95.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCTGAAT	NONE	.	.	.	.	.	ENSP00000338629	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337907	Transcript	.	.	ENSG00000142599	9965	.	.	MODIFIER	8/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RERE_HUMAN	RERE	HGNC	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN	.	UPI00001419CC	SNV	RERE,missense_variant,p.Ser6Asn,ENST00000377464,;RERE,5_prime_UTR_variant,,ENST00000464972,;RERE,intron_variant,,ENST00000400908,;RERE,intron_variant,,ENST00000337907,;RERE,intron_variant,,ENST00000400907,;RERE,non_coding_transcript_exon_variant,,ENST00000507012,;RERE,intron_variant,,ENST00000480342,;	.	94	101	SUCCESS
MKKS	8195	.	GRCh37	20	10393861	10393861	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776936558	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	46	107	0	ENST00000347364.3:c.302A>G	p.Asn101Ser	p.N101S	ENST00000347364	NM_170784.2	101	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13111.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGTTGCAG	NONE	.	.	hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF12,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592	.	.	ENSP00000246062	.	3/6	.	.	.	.	.	.	.	.	rs776936558	3/6	PASS	ENST00000347364	Transcript	1	.	ENSG00000125863	7108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	MKKS_HUMAN	MKKS	HGNC	B7Z3W9_HUMAN	.	UPI000012F199	SNV	MKKS,missense_variant,p.Asn101Ser,ENST00000399054,;MKKS,missense_variant,p.Asn101Ser,ENST00000347364,;MKKS,downstream_gene_variant,,ENST00000609375,;	1065	107	117	SUCCESS
MYH7B	57644	.	GRCh37	20	33578100	33578100	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	21	129	0	ENST00000262873.7:c.2090C>T	p.Ser697Phe	p.S697F	ENST00000262873	NM_020884.3	697	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS42869.1	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCCCAGC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000262873	.	20/43	.	.	.	.	.	.	.	.	.	20/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,missense_variant,p.Ser697Phe,ENST00000262873,;MIR499A,upstream_gene_variant,,ENST00000384903,;	2182	129	124	SUCCESS
SALL4	57167	.	GRCh37	20	50406736	50406736	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758127559	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	35	102	0	ENST00000217086.4:c.2286C>G	p.Asp762Glu	p.D762E	ENST00000217086	NM_020436.3	762	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS13438.1	2286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGTCGTT	NONE	byFrequency	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	.	.	ENSP00000217086	.	2/4	.	.	.	.	.	.	.	.	rs758127559	2/4	PASS	ENST00000217086	Transcript	1	.	ENSG00000101115	15924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.17)	.	SALL4_HUMAN	SALL4	HGNC	.	.	UPI0000135527	SNV	SALL4,missense_variant,p.Asp762Glu,ENST00000217086,;SALL4,intron_variant,,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000481363,;SALL4,downstream_gene_variant,,ENST00000483130,;	2398	102	130	SUCCESS
SLC5A1	6523	.	GRCh37	22	32464553	32464553	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	82	0	ENST00000266088.4:c.443T>A	p.Leu148Gln	p.L148Q	ENST00000266088	NM_000343.3	148	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13902.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTGTCCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266088	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000266088	Transcript	.	.	ENSG00000100170	11036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SC5A1_HUMAN	SLC5A1	HGNC	A4QPH0_HUMAN	.	UPI00001359EA	SNV	SLC5A1,missense_variant,p.Leu21Gln,ENST00000543737,;SLC5A1,missense_variant,p.Leu148Gln,ENST00000266088,;	693	82	81	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107459494	107459494	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	42	161	0	ENST00000361686.4:c.940A>T	p.Ile314Leu	p.I314L	ENST00000361686	NM_032528.2	314	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS2073.1	940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTATTTCCT	BUFFER|p.E313K|c.937G>A|3,BUFFER|p.E313K|c.937G>A|3	.	.	hmmpanther:PTHR13713:SF48,hmmpanther:PTHR13713,Pfam_domain:PF00777	.	.	ENSP00000386942	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	.	.	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,missense_variant,p.Ile314Leu,ENST00000409087,;ST6GAL2,missense_variant,p.Ile314Leu,ENST00000409382,;ST6GAL2,missense_variant,p.Ile314Leu,ENST00000361686,;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	1551	161	164	SUCCESS
ZC3H6	376940	.	GRCh37	2	113082111	113082111	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1488045934	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	61	208	0	ENST00000343936.4:c.1723T>C	p.Tyr575His	p.Y575H	ENST00000343936		575	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS46393.1	1723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATACCAG	NONE	.	.	hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22	.	.	ENSP00000386764	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000409871	Transcript	.	.	ENSG00000188177	24762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.55)	.	ZC3H6_HUMAN	ZC3H6	HGNC	.	.	UPI00004215E8	SNV	ZC3H6,missense_variant,p.Tyr575His,ENST00000343936,;ZC3H6,missense_variant,p.Tyr575His,ENST00000409871,;	2124	208	200	SUCCESS
NTSR2	23620	.	GRCh37	2	11798694	11798694	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs77419493	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	90	0	ENST00000306928.5:c.1144C>T	p.Pro382Ser	p.P382S	ENST00000306928	NM_012344.3	382	Ccc/Tcc	0	T:0.0075	T:0.0053	.	T:0	.	A	P/S	protein_coding	YES	CCDS1681.1	1144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGGTGGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	T:0	T:0	ENSP00000303686	T:0	4/4	.	.	.	.	.	.	.	.	rs77419493	4/4	PASS	ENST00000306928	Transcript	.	T:0.0014	ENSG00000169006	8040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	T:0	tolerated(0.08)	.	NTR2_HUMAN	NTSR2	HGNC	.	.	UPI000013EBAA	SNV	NTSR2,missense_variant,p.Pro382Ser,ENST00000306928,;	1179	90	86	SUCCESS
NTSR2	23620	.	GRCh37	2	11798695	11798695	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	89	0	ENST00000306928.5:c.1143C>A	p.His381Gln	p.H381Q	ENST00000306928	NM_012344.3	381	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS1681.1	1143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGTGGTG	NONE	.	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000306928	Transcript	.	.	ENSG00000169006	8040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.29)	.	NTR2_HUMAN	NTSR2	HGNC	.	.	UPI000013EBAA	SNV	NTSR2,missense_variant,p.His381Gln,ENST00000306928,;	1178	89	87	SUCCESS
DNAH7	56171	.	GRCh37	2	196636524	196636524	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769961852	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	132	0	ENST00000312428.6:c.11293G>A	p.Asp3765Asn	p.D3765N	ENST00000312428	NM_018897.2	3765	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS42794.1	11293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCGAAGT	BUFFER|p.F3764F|c.11292C>T|4	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000311273	.	61/65	.	.	.	.	.	.	.	.	rs769961852,COSM1204112	61/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.327)	.	tolerated(0.17)	0,1	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Asp248Asn,ENST00000409063,;DNAH7,missense_variant,p.Asp3765Asn,ENST00000312428,;	11394	132	128	SUCCESS
DNAH7	56171	.	GRCh37	2	196912120	196912120	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs372676468	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	124	0	ENST00000312428.6:c.354T>A	p.His118Gln	p.H118Q	ENST00000312428	NM_018897.2	118	caT/caA	0	C:0.0003	.	.	.	.	T	H/Q	protein_coding	YES	CCDS42794.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTATGTGG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	C:0	ENSP00000311273	.	5/65	.	.	.	.	.	.	.	.	rs372676468	5/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.52)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.His118Gln,ENST00000410072,;DNAH7,missense_variant,p.His93Gln,ENST00000427816,;DNAH7,missense_variant,p.His118Gln,ENST00000312428,;	455	124	97	SUCCESS
FASTKD2	22868	.	GRCh37	2	207652666	207652666	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	46	1	ENST00000236980.6:c.1600A>T	p.Met534Leu	p.M534L	ENST00000236980	NM_014929.3	534	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS2371.1	1600	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGACATGAAG	NONE	.	.	hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228	.	.	ENSP00000236980	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000236980	Transcript	.	.	ENSG00000118246	29160	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(1)	.	FAKD2_HUMAN	FASTKD2	HGNC	C9JPI6_HUMAN	.	UPI0000073E9F	SNV	FASTKD2,missense_variant,p.Met534Leu,ENST00000402774,;FASTKD2,missense_variant,p.Met534Leu,ENST00000403094,;FASTKD2,missense_variant,p.Met534Leu,ENST00000236980,;MIR3130-1,downstream_gene_variant,,ENST00000579223,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000471788,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;	1948	47	55	SUCCESS
GMPPA	29926	.	GRCh37	2	220370997	220370997	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	63	0	ENST00000313597.5:c.1015A>T	p.Ser339Cys	p.S339C	ENST00000313597	NM_013335.3	339	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS2441.1	1015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATAGCATC	NONE	.	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF85,Gene3D:2.160.10.10,Superfamily_domains:SSF53448	.	.	ENSP00000350949	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000358215	Transcript	.	.	ENSG00000144591	22923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0.04)	.	GMPPA_HUMAN	GMPPA	HGNC	C9JAH0_HUMAN,C9J255_HUMAN	.	UPI000006D41C	SNV	GMPPA,missense_variant,p.Ser339Cys,ENST00000373908,;GMPPA,missense_variant,p.Ser339Cys,ENST00000341142,;GMPPA,missense_variant,p.Ser339Cys,ENST00000358215,;GMPPA,missense_variant,p.Ser392Cys,ENST00000373917,;GMPPA,missense_variant,p.Ser339Cys,ENST00000313597,;GMPPA,downstream_gene_variant,,ENST00000435316,;GMPPA,downstream_gene_variant,,ENST00000455657,;AC053503.11,intron_variant,,ENST00000429882,;GMPPA,3_prime_UTR_variant,,ENST00000443704,;GMPPA,non_coding_transcript_exon_variant,,ENST00000496536,;GMPPA,non_coding_transcript_exon_variant,,ENST00000481170,;GMPPA,non_coding_transcript_exon_variant,,ENST00000480034,;GMPPA,downstream_gene_variant,,ENST00000480506,;	1384	63	42	SUCCESS
SLC4A3	6508	.	GRCh37	2	220500393	220500393	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	86	0	ENST00000317151.3:c.1973-2A>T		p.X658_splice	ENST00000317151		658		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2446.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCAGAACT	NONE	.	.	.	.	.	ENSP00000362867	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	HIGH	13/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,splice_acceptor_variant,,ENST00000373760,;SLC4A3,splice_acceptor_variant,,ENST00000273063,;SLC4A3,splice_acceptor_variant,,ENST00000317151,;SLC4A3,splice_acceptor_variant,,ENST00000358055,;SLC4A3,splice_acceptor_variant,,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,splice_acceptor_variant,,ENST00000416910,;SLC4A3,splice_acceptor_variant,,ENST00000425141,;SLC4A3,splice_acceptor_variant,,ENST00000444906,;	.	86	55	SUCCESS
ECEL1	9427	.	GRCh37	2	233346334	233346334	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs757490576	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	54	0	ENST00000304546.1:c.1871A>T	p.Gln624Leu	p.Q624L	ENST00000304546	NM_004826.2	624	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2493.1	1871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACTGGCCC	NONE	byFrequency	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	14/18	.	.	.	.	.	.	.	.	rs757490576	14/18	PASS	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.239)	.	deleterious(0)	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,missense_variant,p.Gln622Leu,ENST00000409941,;ECEL1,missense_variant,p.Gln624Leu,ENST00000304546,;ECEL1,missense_variant,p.Gln39Leu,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	2082	54	48	SUCCESS
NRXN1	9378	.	GRCh37	2	50463932	50463932	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs377333818	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	72	138	0	ENST00000406316.2:c.3541C>A	p.His1181Asn	p.H1181N	ENST00000406316	NM_004801.4	1181	Cat/Aat	0	T:0	.	.	.	.	T	H/N	protein_coding	YES	CCDS46282.1	3661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATGCAGTT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	T:0.0001	ENSP00000385142	.	19/24	.	.	.	.	.	.	.	.	rs377333818,COSM721612,COSM1149125,COSM721614,COSM721613	19/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	benign(0.064)	.	deleterious(0.01)	0,1,1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.His1173Asn,ENST00000405472,;NRXN1,missense_variant,p.His199Asn,ENST00000401710,;NRXN1,missense_variant,p.His1221Asn,ENST00000404971,;NRXN1,missense_variant,p.His1181Asn,ENST00000406316,;NRXN1,missense_variant,p.His1181Asn,ENST00000401669,;NRXN1,missense_variant,p.His1181Asn,ENST00000406859,;NRXN1,missense_variant,p.His146Asn,ENST00000342183,;NRXN1,missense_variant,p.His1173Asn,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;	5001	138	144	SUCCESS
UGP2	7360	.	GRCh37	2	64112930	64112930	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	18	141	0	ENST00000337130.5:c.783G>A	p.Leu261=	p.L261=	ENST00000337130	NM_006759.3	261	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1875.1	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGTATAT	NONE	.	.	Superfamily_domains:SSF53448,PIRSF_domain:PIRSF000806,Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952:SF1,hmmpanther:PTHR11952	.	.	ENSP00000338703	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000337130	Transcript	.	.	ENSG00000169764	12527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UGPA_HUMAN	UGP2	HGNC	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN	.	UPI000000DB95	SNV	UGP2,synonymous_variant,p.%3D,ENST00000394417,;UGP2,synonymous_variant,p.%3D,ENST00000445915,;UGP2,synonymous_variant,p.%3D,ENST00000337130,;UGP2,synonymous_variant,p.%3D,ENST00000467648,;UGP2,downstream_gene_variant,,ENST00000491621,;UGP2,downstream_gene_variant,,ENST00000488245,;UGP2,downstream_gene_variant,,ENST00000475462,;UGP2,downstream_gene_variant,,ENST00000472047,;UGP2,downstream_gene_variant,,ENST00000482668,;UGP2,downstream_gene_variant,,ENST00000497883,;ACA59,upstream_gene_variant,,ENST00000515966,;UGP2,non_coding_transcript_exon_variant,,ENST00000487469,;UGP2,downstream_gene_variant,,ENST00000495020,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,downstream_gene_variant,,ENST00000497510,;UGP2,downstream_gene_variant,,ENST00000467999,;UGP2,downstream_gene_variant,,ENST00000494536,;UGP2,downstream_gene_variant,,ENST00000483461,;UGP2,downstream_gene_variant,,ENST00000483108,;UGP2,downstream_gene_variant,,ENST00000493222,;UGP2,downstream_gene_variant,,ENST00000466642,;UGP2,downstream_gene_variant,,ENST00000467400,;UGP2,downstream_gene_variant,,ENST00000496334,;UGP2,downstream_gene_variant,,ENST00000487042,;	1259	141	114	SUCCESS
EXOC6B	23233	.	GRCh37	2	73053049	73053049	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	58	0	ENST00000272427.6:c.-10C>A		p.*4*	ENST00000272427	NM_015189.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46333.1	.	MUTECT|MUSE|VARSCANS	.	TGGGGGCGCCC	NONE	.	.	.	.	.	ENSP00000272427	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000272427	Transcript	.	.	ENSG00000144036	17085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXC6B_HUMAN	EXOC6B	HGNC	Q9H8D6_HUMAN	.	UPI000046995C	SNV	EXOC6B,5_prime_UTR_variant,,ENST00000410104,;EXOC6B,5_prime_UTR_variant,,ENST00000272427,;EXOC6B,5_prime_UTR_variant,,ENST00000410112,;	122	58	48	SUCCESS
TLX2	3196	.	GRCh37	2	74742763	74742763	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749625308	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	120	0	ENST00000233638.7:c.404C>T	p.Ala135Val	p.A135V	ENST00000233638	NM_016170.4	135	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1947.1	404	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCGCTCT	NONE	byFrequency	.	hmmpanther:PTHR24326:SF117,hmmpanther:PTHR24326	.	.	ENSP00000233638	.	2/3	.	.	.	.	.	.	.	.	rs749625308	2/3	PASS	ENST00000233638	Transcript	.	.	ENSG00000115297	5057	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.787)	.	deleterious(0.04)	.	TLX2_HUMAN	TLX2	HGNC	.	.	UPI0000137060	SNV	TLX2,missense_variant,p.Ala135Val,ENST00000233638,;DQX1,downstream_gene_variant,,ENST00000404568,;DQX1,downstream_gene_variant,,ENST00000393951,;TLX2,non_coding_transcript_exon_variant,,ENST00000497238,;DQX1,downstream_gene_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;DQX1,downstream_gene_variant,,ENST00000473508,;	727	120	132	SUCCESS
CTNNA2	1496	.	GRCh37	2	80816462	80816462	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	62	300	0	ENST00000402739.4:c.2041G>A	p.Ala681Thr	p.A681T	ENST00000402739	NM_001282597.1	681	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS42703.2	2041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGCAAAA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	tolerated(0.5)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Ala681Thr,ENST00000496558,;CTNNA2,missense_variant,p.Ala715Thr,ENST00000361291,;CTNNA2,missense_variant,p.Ala681Thr,ENST00000541047,;CTNNA2,missense_variant,p.Ala360Thr,ENST00000343114,;CTNNA2,missense_variant,p.Ala681Thr,ENST00000540488,;CTNNA2,missense_variant,p.Ala681Thr,ENST00000466387,;CTNNA2,missense_variant,p.Ala681Thr,ENST00000402739,;AC008067.2,intron_variant,,ENST00000609950,;AC008067.2,intron_variant,,ENST00000595478,;AC008067.2,intron_variant,,ENST00000430876,;AC008067.2,intron_variant,,ENST00000596887,;CTNNA2,upstream_gene_variant,,ENST00000467892,;	2765	300	255	SUCCESS
IGKV3-11	28914	.	GRCh37	2	89326668	89326668	+	synonymous_variant	Silent	SNP	A	A	T	rs571030226	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	52	315	0	ENST00000483158.1:c.345T>A	p.Pro115=	p.P115=	ENST00000483158		115	ccT/ccA	0	.	G:0	.	G:0.0014	.	T	P	IG_V_gene	YES	.	345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGAGGCCA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF118,hmmpanther:PTHR23267,SMART_domains:SM00409	G:0.001	.	ENSP00000420118	G:0.002	2/2	.	.	.	.	.	.	.	.	rs571030226	2/2	PASS	ENST00000483158	Transcript	.	G:0.0008	ENSG00000241351	5815	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	KV309_HUMAN	IGKV3-11	HGNC	.	.	UPI0000116D05	SNV	IGKV3-11,synonymous_variant,p.%3D,ENST00000483158,;	392	315	244	SUCCESS
FAHD2A	51011	.	GRCh37	2	96072725	96072725	+	synonymous_variant	Silent	SNP	G	G	A	rs544140833	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	136	387	0	ENST00000233379.4:c.282G>A	p.Ser94=	p.S94=	ENST00000233379	NM_016044.2	94	tcG/tcA	0	.	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS2014.1	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGGAGGT	NONE	by1000G	.	hmmpanther:PTHR11820:SF74,hmmpanther:PTHR11820,Gene3D:3.90.850.10	A:0	.	ENSP00000233379	A:0.001	3/8	.	.	.	.	.	.	.	.	rs544140833	3/8	PASS	ENST00000233379	Transcript	.	A:0.0002	ENSG00000115042	24252	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FAH2A_HUMAN	FAHD2A	HGNC	C9JGM0_HUMAN,C9J5B6_HUMAN	.	UPI000006D4CC	SNV	FAHD2A,synonymous_variant,p.%3D,ENST00000418606,;FAHD2A,synonymous_variant,p.%3D,ENST00000233379,;FAHD2A,synonymous_variant,p.%3D,ENST00000447036,;FAHD2A,downstream_gene_variant,,ENST00000445649,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000463940,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000470100,;	435	387	317	SUCCESS
MIR567	693152	.	GRCh37	3	111831700	111831700	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	67	0	ENST00000385205.1:n.53T>A		p.*18*	ENST00000385205				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54620.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTGTACT	NONE	.	.	.	.	.	ENSP00000399392	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000431717	Transcript	.	.	ENSG00000114529	26255	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTMP_HUMAN	C3orf52	HGNC	.	.	UPI000188445B	SNV	C3orf52,intron_variant,,ENST00000484828,;C3orf52,intron_variant,,ENST00000431717,;C3orf52,intron_variant,,ENST00000430855,;C3orf52,intron_variant,,ENST00000264848,;MIR567,non_coding_transcript_exon_variant,,ENST00000385205,;C3orf52,intron_variant,,ENST00000494096,;C3orf52,intron_variant,,ENST00000467942,;C3orf52,intron_variant,,ENST00000480282,;C3orf52,downstream_gene_variant,,ENST00000497610,;	.	67	88	SUCCESS
CAND2	23066	.	GRCh37	3	12857490	12857490	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	9	143	0	ENST00000456430.2:c.1424T>C	p.Met475Thr	p.M475T	ENST00000456430	NM_001162499.1	475	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS54554.1	1424	MUTECT|MUSE	.	GCATATGCCTG	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.334)	.	tolerated(0.09)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Met475Thr,ENST00000456430,;CAND2,missense_variant,p.Met382Thr,ENST00000295989,;CAND2,downstream_gene_variant,,ENST00000446928,;	1465	143	147	SUCCESS
ACAD9	28976	.	GRCh37	3	128621398	128621398	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	96	0	ENST00000308982.7:c.885G>C		p.X295_splice	ENST00000308982	NM_014049.4	295	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3053.1	885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGGCCAT	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF264,Pfam_domain:PF00441,Gene3D:1.20.140.10,Superfamily_domains:SSF47203,Superfamily_domains:SSF56645	.	.	ENSP00000312618	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000308982	Transcript	.	.	ENSG00000177646	21497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACAD9_HUMAN	ACAD9	HGNC	Q9H9W4_HUMAN,Q9BUX5_HUMAN,H0Y8Z9_HUMAN	.	UPI00000498C3	SNV	ACAD9,synonymous_variant,p.%3D,ENST00000308982,;ACAD9,splice_region_variant,,ENST00000511526,;ACAD9,synonymous_variant,p.%3D,ENST00000508971,;ACAD9,splice_region_variant,,ENST00000505867,;ACAD9,splice_region_variant,,ENST00000505192,;ACAD9,splice_region_variant,,ENST00000511227,;ACAD9,downstream_gene_variant,,ENST00000512801,;ACAD9,downstream_gene_variant,,ENST00000514643,;ACAD9,upstream_gene_variant,,ENST00000511325,;	966	96	113	SUCCESS
NUP210	23225	.	GRCh37	3	13401865	13401865	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	52	176	1	ENST00000254508.5:c.2059A>T	p.Thr687Ser	p.T687S	ENST00000254508	NM_024923.3	687	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33704.1	2059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGTGTCCT	NONE	.	.	hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	.	.	ENSP00000254508	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000254508	Transcript	.	.	ENSG00000132182	30052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	PO210_HUMAN	NUP210	HGNC	.	.	UPI00001600AF	SNV	NUP210,missense_variant,p.Thr687Ser,ENST00000254508,;NUP210,non_coding_transcript_exon_variant,,ENST00000420141,;	2142	177	142	SUCCESS
CHRD	8646	.	GRCh37	3	184101425	184101425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	106	0	ENST00000204604.1:c.1435C>T	p.His479Tyr	p.H479Y	ENST00000204604	NM_003741.2	479	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS3266.1	1435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACACACG	NONE	.	.	PROSITE_profiles:PS50933,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,Pfam_domain:PF07452,PIRSF_domain:PIRSF002496,SMART_domains:SM00754	.	.	ENSP00000204604	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000204604	Transcript	.	.	ENSG00000090539	1949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	CHRD_HUMAN	CHRD	HGNC	Q8N2W7_HUMAN	.	UPI000013C64D	SNV	CHRD,missense_variant,p.His479Tyr,ENST00000450923,;CHRD,missense_variant,p.His479Tyr,ENST00000204604,;CHRD,missense_variant,p.His109Tyr,ENST00000545352,;CHRD,intron_variant,,ENST00000348986,;EIF2B5,intron_variant,,ENST00000444495,;CHRD,downstream_gene_variant,,ENST00000310236,;CHRD,downstream_gene_variant,,ENST00000482805,;CHRD,3_prime_UTR_variant,,ENST00000420973,;CHRD,3_prime_UTR_variant,,ENST00000448472,;CHRD,non_coding_transcript_exon_variant,,ENST00000470150,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,downstream_gene_variant,,ENST00000461120,;CHRD,downstream_gene_variant,,ENST00000459711,;CHRD,downstream_gene_variant,,ENST00000356534,;CHRD,downstream_gene_variant,,ENST00000482014,;CHRD,upstream_gene_variant,,ENST00000464833,;CHRD,downstream_gene_variant,,ENST00000496527,;CHRD,downstream_gene_variant,,ENST00000485883,;CHRD,downstream_gene_variant,,ENST00000486066,;CHRD,downstream_gene_variant,,ENST00000461684,;	1681	106	92	SUCCESS
ZCWPW2	152098	.	GRCh37	3	28476731	28476731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	151	357	0	ENST00000383768.2:c.463T>A	p.Phe155Ile	p.F155I	ENST00000383768		155	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS33723.1	463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATTCGTT	BUFFER|p.F155F|c.465C>T|3	.	.	Superfamily_domains:SSF63748,Pfam_domain:PF00855,Gene3D:2.30.30.160,hmmpanther:PTHR15999:SF3,hmmpanther:PTHR15999	.	.	ENSP00000373278	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000383768	Transcript	.	.	ENSG00000206559	23574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	deleterious(0.04)	.	ZCPW2_HUMAN	ZCWPW2	HGNC	C9JFK0_HUMAN	.	UPI0000161ABF	SNV	ZCWPW2,missense_variant,p.Phe155Ile,ENST00000383768,;ZCWPW2,missense_variant,p.Phe7Ile,ENST00000419130,;ZCWPW2,missense_variant,p.Phe155Ile,ENST00000421010,;ZCWPW2,missense_variant,p.Phe139Ile,ENST00000428875,;ZCWPW2,downstream_gene_variant,,ENST00000420223,;	651	357	404	SUCCESS
EPM2AIP1	9852	.	GRCh37	3	37033938	37033938	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1268947162	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	54	92	0	ENST00000322716.5:c.631A>G	p.Ile211Val	p.I211V	ENST00000322716	NM_014805.3	211	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46790.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTATGGTCA	NONE	.	.	hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697	.	.	ENSP00000406027	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322716	Transcript	.	.	ENSG00000178567	19735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.74)	.	EPMIP_HUMAN	EPM2AIP1	HGNC	.	.	UPI0000073486	SNV	EPM2AIP1,missense_variant,p.Ile211Val,ENST00000322716,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000231790,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000456676,;MLH1,upstream_gene_variant,,ENST00000539477,;MLH1,upstream_gene_variant,,ENST00000458205,;MLH1,upstream_gene_variant,,ENST00000435176,;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000442249,;MLH1,upstream_gene_variant,,ENST00000454028,;	858	92	133	SUCCESS
EPHA3	2042	.	GRCh37	3	89259319	89259319	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	11	131	1	ENST00000336596.2:c.463A>T	p.Met155Leu	p.M155L	ENST00000336596	NM_005233.5	155	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS2922.1	463	MUTECT|MUSE|VARSCANS	.	CTCAAATGGAT	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000337451	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	tolerated(0.42)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Met155Leu,ENST00000494014,;EPHA3,missense_variant,p.Met155Leu,ENST00000452448,;EPHA3,missense_variant,p.Met155Leu,ENST00000336596,;	688	132	135	SUCCESS
SCLT1	132320	.	GRCh37	4	129960350	129960350	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	74	193	0	ENST00000281142.5:c.235-99A>T		p.*79*	ENST00000281142	NM_144643.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3740.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGTTTACAGA	NONE	.	.	.	.	.	ENSP00000281142	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281142	Transcript	.	.	ENSG00000151466	26406	.	.	MODIFIER	4/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCLT1_HUMAN	SCLT1	HGNC	.	.	UPI000013DC5F	SNV	SCLT1,3_prime_UTR_variant,,ENST00000511426,;SCLT1,intron_variant,,ENST00000503215,;SCLT1,intron_variant,,ENST00000434680,;SCLT1,intron_variant,,ENST00000506368,;SCLT1,intron_variant,,ENST00000281142,;SCLT1,intron_variant,,ENST00000439369,;SCLT1,downstream_gene_variant,,ENST00000503401,;	.	193	123	SUCCESS
NKX3-2	579	.	GRCh37	4	13544068	13544068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	274	755	1	ENST00000382438.5:c.551G>T	p.Gly184Val	p.G184V	ENST00000382438	NM_001189.3	184	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3410.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCCGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF22	.	.	ENSP00000371875	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382438	Transcript	1	.	ENSG00000109705	951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	tolerated(0.06)	.	NKX32_HUMAN	NKX3-2	HGNC	.	.	UPI00001301F5	SNV	NKX3-2,missense_variant,p.Gly184Val,ENST00000382438,;LINC01096,downstream_gene_variant,,ENST00000503938,;LINC01096,downstream_gene_variant,,ENST00000501050,;	1187	756	443	SUCCESS
LINC01098	285501	.	GRCh37	4	178881973	178881973	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs148169804	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	49	210	0	ENST00000507870.1:c.-31C>G		p.*11*	ENST00000507870				0	A:0	A:0.0008	.	A:0	.	G	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TATTTCTTTCC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0002	ENSP00000421352	A:0.001	3/6	.	.	.	.	.	.	.	.	rs148169804	3/6	PASS	ENST00000507870	Transcript	.	A:0.0004	ENSG00000231171	27731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	.	LINC01098	HGNC	G5E9X9_HUMAN	.	UPI0000160C43	SNV	LINC01098,5_prime_UTR_variant,,ENST00000507870,;	432	210	94	SUCCESS
LINC01098	285501	.	GRCh37	4	178881990	178881990	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	67	236	0	ENST00000507870.1:c.-14G>C		p.*5*	ENST00000507870				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	CAAAAGAATCC	NONE	.	.	.	.	.	ENSP00000421352	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000507870	Transcript	.	.	ENSG00000231171	27731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	LINC01098	HGNC	G5E9X9_HUMAN	.	UPI0000160C43	SNV	LINC01098,5_prime_UTR_variant,,ENST00000507870,;	449	236	115	SUCCESS
HTT	3064	.	GRCh37	4	3131687	3131687	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	37	98	0	ENST00000355072.5:c.1780C>T	p.Gln594Ter	p.Q594*	ENST00000355072	NM_002111.6	594	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS43206.1	1780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCAGATT	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	13/67	.	.	.	.	.	.	.	.	.	13/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,stop_gained,p.Gln594Ter,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	1925	98	72	SUCCESS
GABRG1	2565	.	GRCh37	4	46126026	46126026	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	33	110	0	ENST00000295452.4:c.-96C>T		p.*32*	ENST00000295452	NM_173536.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3470.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGGAGAGTGT	NONE	.	.	.	.	.	ENSP00000295452	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,5_prime_UTR_variant,,ENST00000295452,;	73	110	64	SUCCESS
WFS1	7466	.	GRCh37	4	6302514	6302514	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	113	0	ENST00000226760.1:c.992T>A	p.Phe331Tyr	p.F331Y	ENST00000226760	NM_001145853.1	331	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS3386.1	992	MUTECT|MUSE|VARSCANS	.	CTTCTTCATCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13098	.	.	ENSP00000226760	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000226760	Transcript	1	.	ENSG00000109501	12762	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.148)	.	deleterious(0)	.	WFS1_HUMAN	WFS1	HGNC	B4DJ99_HUMAN	.	UPI00000715C3	SNV	WFS1,missense_variant,p.Phe331Tyr,ENST00000503569,;WFS1,missense_variant,p.Phe209Tyr,ENST00000506362,;WFS1,missense_variant,p.Phe331Tyr,ENST00000226760,;WFS1,non_coding_transcript_exon_variant,,ENST00000507765,;WFS1,non_coding_transcript_exon_variant,,ENST00000513395,;	1162	113	63	SUCCESS
NEUROG1	4762	.	GRCh37	5	134871575	134871575	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	41	108	0	ENST00000314744.4:c.-195A>T		p.*65*	ENST00000314744	NM_006161.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4187.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCTGCAGG	NONE	.	.	.	.	.	ENSP00000317580	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314744	Transcript	.	.	ENSG00000181965	7764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGN1_HUMAN	NEUROG1	HGNC	F1T0H3_HUMAN	.	UPI0000072868	SNV	NEUROG1,5_prime_UTR_variant,,ENST00000314744,;	65	108	122	SUCCESS
PCDHB17	0	.	GRCh37	5	140536696	140536696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	13	0	ENST00000539533.1:c.1120C>A	p.Pro374Thr	p.P374T	ENST00000539533		374	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	1120	MUTECT|MUSE	.	CGGATCCGGAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90,PROSITE_profiles:PS50268	.	.	ENSP00000438685	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000539533	Transcript	.	.	ENSG00000255622	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.672)	.	tolerated_low_confidence(0.15)	.	.	PCDHB17	Uniprot_gn	Q96T98_HUMAN	.	UPI000006CE19	SNV	PCDHB17,missense_variant,p.Pro374Thr,ENST00000539533,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB6,downstream_gene_variant,,ENST00000231136,;	1120	13	11	SUCCESS
PCDHB13	56123	.	GRCh37	5	140594106	140594106	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	331	170	489	0	ENST00000341948.4:c.411A>G	p.Lys137=	p.K137=	ENST00000341948	NM_018933.2	137	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS4255.1	411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAACAAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,synonymous_variant,p.%3D,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	598	489	501	SUCCESS
PCDHGA1	56114	.	GRCh37	5	140712001	140712001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	81	0	ENST00000517417.1:c.1750C>A	p.Pro584Thr	p.P584T	ENST00000517417	NM_018912.2	584	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54922.1	1750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCCGGC	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF108,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000431083	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000517417	Transcript	.	.	ENSG00000204956	8696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious_low_confidence(0)	.	PCDG1_HUMAN	PCDHGA1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070596	SNV	PCDHGA1,missense_variant,p.Pro584Thr,ENST00000517417,;PCDHGA1,missense_variant,p.Pro584Thr,ENST00000378105,;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	1750	81	97	SUCCESS
PCDH12	51294	.	GRCh37	5	141335502	141335502	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370147049	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	65	0	ENST00000231484.3:c.1915C>T	p.Arg639Cys	p.R639C	ENST00000231484	NM_016580.3	639	Cgc/Tgc	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS4269.1	1915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGGATGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF42,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	A:0	ENSP00000231484	.	1/4	.	.	.	.	.	.	.	.	rs370147049	1/4	PASS	ENST00000231484	Transcript	.	.	ENSG00000113555	8657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	tolerated(0.08)	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,missense_variant,p.Arg639Cys,ENST00000231484,;RNF14,upstream_gene_variant,,ENST00000506822,;RNF14,upstream_gene_variant,,ENST00000511961,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	3126	65	62	SUCCESS
PPARGC1B	133522	.	GRCh37	5	149216515	149216515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	66	0	ENST00000309241.5:c.2497G>A	p.Asp833Asn	p.D833N	ENST00000309241	NM_133263.3	833	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS4298.1	2497	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGACCAC	NONE	.	.	hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528	.	.	ENSP00000312649	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000309241	Transcript	.	.	ENSG00000155846	30022	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.587)	.	tolerated(0.2)	.	PRGC2_HUMAN	PPARGC1B	HGNC	.	.	UPI000006F49D	SNV	PPARGC1B,missense_variant,p.Asp794Asn,ENST00000360453,;PPARGC1B,missense_variant,p.Asp769Asn,ENST00000403750,;PPARGC1B,missense_variant,p.Asp833Asn,ENST00000309241,;PPARGC1B,missense_variant,p.Asp833Asn,ENST00000394320,;PPARGC1B,missense_variant,p.Asp520Asn,ENST00000434684,;	2529	66	78	SUCCESS
DOCK2	1794	.	GRCh37	5	169230174	169230174	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	68	137	0	ENST00000256935.8:c.2667C>T	p.Leu889=	p.L889=	ENST00000256935	NM_004946.2	889	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4371.1	2667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTCAACAG	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000256935	.	26/52	.	.	.	.	.	.	.	.	.	26/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,synonymous_variant,p.%3D,ENST00000256935,;DOCK2,synonymous_variant,p.%3D,ENST00000519628,;DOCK2,synonymous_variant,p.%3D,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520181,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,synonymous_variant,p.%3D,ENST00000524185,;	2747	137	187	SUCCESS
HK3	3101	.	GRCh37	5	176314451	176314451	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	71	0	ENST00000292432.5:c.1600+1G>A		p.X534_splice	ENST00000292432	NM_002115.2	534		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4407.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTACCGCTG	NONE	.	.	.	.	.	ENSP00000292432	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	HIGH	11/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,splice_donor_variant,,ENST00000292432,;HK3,upstream_gene_variant,,ENST00000514058,;HK3,splice_donor_variant,,ENST00000506834,;HK3,intron_variant,,ENST00000509717,;HK3,downstream_gene_variant,,ENST00000504910,;	.	71	66	SUCCESS
XRCC4	7518	.	GRCh37	5	82554532	82554532	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	119	307	2	ENST00000338635.6:c.893+36A>T		p.*298*	ENST00000338635				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4059.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AGATGACATTT	NONE	.	.	.	.	.	ENSP00000421491	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000511817	Transcript	1	.	ENSG00000152422	12831	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XRCC4_HUMAN	XRCC4	HGNC	.	.	UPI000006DF4E	SNV	XRCC4,intron_variant,,ENST00000338635,;XRCC4,intron_variant,,ENST00000511817,;XRCC4,intron_variant,,ENST00000282268,;XRCC4,intron_variant,,ENST00000396027,;XRCC4,non_coding_transcript_exon_variant,,ENST00000509268,;XRCC4,intron_variant,,ENST00000542685,;	.	309	304	SUCCESS
FAM172A	83989	.	GRCh37	5	93294536	93294536	+	synonymous_variant	Silent	SNP	T	T	A	rs375944243	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	88	192	0	ENST00000395965.3:c.513A>T	p.Ile171=	p.I171=	ENST00000395965	NM_032042.5	171	atA/atT	0	C:0	.	.	.	.	A	I	protein_coding	YES	CCDS4069.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTATAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21357,hmmpanther:PTHR21357:SF3,Gene3D:3.40.50.1820,Pfam_domain:PF09757,Superfamily_domains:SSF53474	.	C:0.0001	ENSP00000379294	.	6/11	.	.	.	.	.	.	.	.	rs375944243	6/11	PASS	ENST00000395965	Transcript	.	.	ENSG00000113391	25365	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F172A_HUMAN	FAM172A	HGNC	.	.	UPI000006DF3B	SNV	FAM172A,synonymous_variant,p.%3D,ENST00000509163,;FAM172A,synonymous_variant,p.%3D,ENST00000395965,;FAM172A,intron_variant,,ENST00000509739,;FAM172A,intron_variant,,ENST00000505869,;FAM172A,non_coding_transcript_exon_variant,,ENST00000504768,;FAM172A,synonymous_variant,p.%3D,ENST00000502503,;FAM172A,non_coding_transcript_exon_variant,,ENST00000506398,;	656	192	236	SUCCESS
GPRC6A	222545	.	GRCh37	6	117150058	117150058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	28	169	0	ENST00000310357.3:c.119G>A	p.Gly40Asp	p.G40D	ENST00000310357	NM_148963.2	40	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5112.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACCTCCA	NONE	.	.	hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000309493	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,missense_variant,p.Gly40Asp,ENST00000310357,;GPRC6A,missense_variant,p.Gly40Asp,ENST00000368549,;GPRC6A,missense_variant,p.Gly40Asp,ENST00000530250,;	141	169	126	SUCCESS
TDP2	51567	.	GRCh37	6	24666984	24666984	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	109	0	ENST00000378198.4:c.107C>T	p.Ala36Val	p.A36V	ENST00000378198		36	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4557.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGCGACC	NONE	.	.	Superfamily_domains:SSF46934,Gene3D:1.10.8.10,Pfam_domain:PF14555,hmmpanther:PTHR15822,hmmpanther:PTHR15822:SF4	.	.	ENSP00000367440	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000378198	Transcript	.	.	ENSG00000111802	17768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	deleterious(0.01)	.	TYDP2_HUMAN	TDP2	HGNC	.	.	UPI0000032018	SNV	TDP2,missense_variant,p.Ala66Val,ENST00000545995,;TDP2,missense_variant,p.Ala36Val,ENST00000378198,;ACOT13,upstream_gene_variant,,ENST00000230048,;ACOT13,upstream_gene_variant,,ENST00000537591,;TDP2,upstream_gene_variant,,ENST00000341060,;TDP2,non_coding_transcript_exon_variant,,ENST00000478507,;TDP2,non_coding_transcript_exon_variant,,ENST00000480495,;	278	109	96	SUCCESS
IRF4	3662	.	GRCh37	6	405053	405053	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1159107414	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	45	0	ENST00000380956.4:c.1135C>A	p.Pro379Thr	p.P379T	ENST00000380956	NM_001195286.1	379	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4469.1	1135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCCAAGA	NONE	.	.	hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6,Pfam_domain:PF10401,Gene3D:2.60.200.10,Superfamily_domains:SSF49879	.	.	ENSP00000370343	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000380956	Transcript	.	.	ENSG00000137265	6119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	IRF4_HUMAN	IRF4	HGNC	.	.	UPI000012D88B	SNV	IRF4,missense_variant,p.Pro379Thr,ENST00000380956,;IRF4,missense_variant,p.Pro379Thr,ENST00000493114,;	1261	45	54	SUCCESS
TINAG	27283	.	GRCh37	6	54214615	54214615	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs867931815	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	68	146	0	ENST00000259782.4:c.1001C>T	p.Ala334Val	p.A334V	ENST00000259782	NM_014464.3	334	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4955.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCCACGA	BUFFER|p.R332W|c.994C>T|3	.	.	Superfamily_domains:SSF54001,SMART_domains:SM00645,Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411:SF274,hmmpanther:PTHR12411	.	.	ENSP00000259782	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000259782	Transcript	.	.	ENSG00000137251	14599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.01)	.	TINAG_HUMAN	TINAG	HGNC	B1AQ11_HUMAN	.	UPI000013D078	SNV	TINAG,missense_variant,p.Ala334Val,ENST00000259782,;	1097	146	160	SUCCESS
COL19A1	1310	.	GRCh37	6	70733546	70733546	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	113	0	ENST00000322773.4:c.1054G>T	p.Ala352Ser	p.A352S	ENST00000322773	NM_001858.4	352	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4970.1	1054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGCTCTG	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	.	.	ENSP00000316030	.	12/51	.	.	.	.	.	.	.	.	.	12/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Ala352Ser,ENST00000322773,;	1156	113	98	SUCCESS
KLHL32	114792	.	GRCh37	6	97533088	97533088	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	6	96	0	ENST00000369261.4:c.498C>G	p.Phe166Leu	p.F166L	ENST00000369261	NM_052904.3	166	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS5038.1	498	MUTECT|MUSE|VARSCANS	.	GATTTCTTAGT	NONE	.	.	PIRSF_domain:PIRSF037037,SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.575)	.	deleterious(0)	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,missense_variant,p.Phe62Leu,ENST00000447886,;KLHL32,missense_variant,p.Phe97Leu,ENST00000539200,;KLHL32,missense_variant,p.Phe130Leu,ENST00000536676,;KLHL32,missense_variant,p.Phe166Leu,ENST00000369261,;KLHL32,intron_variant,,ENST00000369254,;KLHL32,intron_variant,,ENST00000544166,;	861	96	69	SUCCESS
RP9	6100	.	GRCh37	7	33134956	33134956	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	131	336	0	ENST00000297157.3:c.556A>T	p.Lys186Ter	p.K186*	ENST00000297157	NM_203288.1	186	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5440.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTGTGTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000297157	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000297157	Transcript	.	.	ENSG00000164610	10288	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RP9_HUMAN	RP9	HGNC	.	.	UPI0000032AA5	SNV	RP9,stop_gained,p.Lys186Ter,ENST00000297157,;RP9,stop_gained,p.Lys152Ter,ENST00000448915,;RP9,downstream_gene_variant,,ENST00000474370,;RP9,downstream_gene_variant,,ENST00000492391,;	574	336	369	SUCCESS
ABCA13	154664	.	GRCh37	7	48315128	48315128	+	synonymous_variant	Silent	SNP	C	C	T	rs746356057	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	30	146	0	ENST00000435803.1:c.5865C>T	p.Ile1955=	p.I1955=	ENST00000435803	NM_152701.3	1955	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS47584.1	5865	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCATAGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	rs746356057	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	5889	146	212	SUCCESS
PCLO	27445	.	GRCh37	7	82582848	82582848	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	40	89	0	ENST00000333891.9:c.7421C>A	p.Pro2474His	p.P2474H	ENST00000333891	NM_033026.5	2474	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47630.1	7421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGGTAAT	BUFFER|p.V2475I|c.7423G>A|3,BUFFER|p.V2406I|c.7216G>A|3,BUFFER|p.V2475I|c.7423G>A|3	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro2474His,ENST00000333891,;PCLO,missense_variant,p.Pro2474His,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7759	89	114	SUCCESS
PCLO	27445	.	GRCh37	7	82764321	82764321	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs547726879	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	67	170	0	ENST00000333891.9:c.2545G>A	p.Val849Ile	p.V849I	ENST00000333891	NM_033026.5	849	Gta/Ata	0	.	T:0	.	T:0.0014	.	T	V/I	protein_coding	YES	CCDS47630.1	2545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACGGGGT	NONE	by1000G	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	T:0	.	ENSP00000334319	T:0	3/25	.	.	.	.	.	.	.	.	rs547726879,COSM1452442,COSM1452441,COSM1452443	3/25	PASS	ENST00000333891	Transcript	.	T:0.0002	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	unknown(0)	T:0	.	0,1,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Val849Ile,ENST00000333891,;PCLO,missense_variant,p.Val849Ile,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2883	170	181	SUCCESS
CSMD3	114788	.	GRCh37	8	113812467	113812467	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201411480	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	43	83	0	ENST00000297405.5:c.1896C>A	p.Ser632Arg	p.S632R	ENST00000297405	NM_198123.1	632	agC/agA	0	A:0.0002	A:0.0008	.	A:0	.	T	S/R	protein_coding	YES	CCDS6315.1	1896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGCTCAC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	A:0	A:0	ENSP00000297405	A:0	13/71	.	.	.	.	.	.	.	.	rs201411480	13/71	PASS	ENST00000297405	Transcript	.	A:0.0002	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	A:0	deleterious(0.01)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ser632Arg,ENST00000352409,;CSMD3,missense_variant,p.Ser528Arg,ENST00000455883,;CSMD3,missense_variant,p.Ser632Arg,ENST00000297405,;CSMD3,missense_variant,p.Ser592Arg,ENST00000343508,;	2141	83	109	SUCCESS
FZD3	7976	.	GRCh37	8	28385158	28385158	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	46	99	0	ENST00000240093.3:c.881A>G	p.Tyr294Cys	p.Y294C	ENST00000240093	NM_017412.3	294	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6069.1	881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTATTTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000240093	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000240093	Transcript	.	.	ENSG00000104290	4041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FZD3_HUMAN	FZD3	HGNC	E5RGI9_HUMAN	.	UPI000003156A	SNV	FZD3,missense_variant,p.Tyr294Cys,ENST00000537916,;FZD3,missense_variant,p.Tyr294Cys,ENST00000240093,;RNA5SP259,upstream_gene_variant,,ENST00000365541,;	1359	99	72	SUCCESS
TTI2	80185	.	GRCh37	8	33361343	33361343	+	synonymous_variant	Silent	SNP	G	G	A	rs756836109	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	6	78	0	ENST00000360742.5:c.1038C>T	p.Ile346=	p.I346=	ENST00000360742	NM_025115.3	346	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS6090.1	1038	MUTECT|MUSE	.	GTCAGGATCAG	NONE	byFrequency	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1,Pfam_domain:PF10521,Superfamily_domains:SSF48371	.	.	ENSP00000411169	.	5/8	.	.	.	.	.	.	.	.	rs756836109	5/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,synonymous_variant,p.%3D,ENST00000431156,;TTI2,synonymous_variant,p.%3D,ENST00000520636,;TTI2,synonymous_variant,p.%3D,ENST00000360742,;MAK16,downstream_gene_variant,,ENST00000360128,;TTI2,non_coding_transcript_exon_variant,,ENST00000519356,;	1657	78	129	SUCCESS
ASH2L	9070	.	GRCh37	8	37978484	37978484	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	37	96	0	ENST00000343823.6:c.982C>T	p.His328Tyr	p.H328Y	ENST00000343823	NM_004674.4	328	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS6101.1	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTCATGGC	NONE	.	.	hmmpanther:PTHR10598	.	.	ENSP00000340896	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000343823	Transcript	.	.	ENSG00000129691	744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	tolerated(0.13)	.	ASH2L_HUMAN	ASH2L	HGNC	F5H8F7_HUMAN	.	UPI0000038D65	SNV	ASH2L,missense_variant,p.His189Tyr,ENST00000545394,;ASH2L,missense_variant,p.His234Tyr,ENST00000250635,;ASH2L,missense_variant,p.His234Tyr,ENST00000428278,;ASH2L,missense_variant,p.His234Tyr,ENST00000521652,;ASH2L,missense_variant,p.His328Tyr,ENST00000343823,;RP11-90P5.4,upstream_gene_variant,,ENST00000519081,;RP11-90P5.5,upstream_gene_variant,,ENST00000476186,;ASH2L,downstream_gene_variant,,ENST00000524263,;ASH2L,3_prime_UTR_variant,,ENST00000517496,;ASH2L,non_coding_transcript_exon_variant,,ENST00000518186,;ASH2L,downstream_gene_variant,,ENST00000522675,;	1291	96	169	SUCCESS
ADAM9	8754	.	GRCh37	8	38913107	38913107	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	92	103	0	ENST00000487273.2:c.1407A>T	p.Gly469=	p.G469=	ENST00000487273	NM_003816.2	469	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6112.1	1407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGAGGTAC	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF32,hmmpanther:PTHR11905,PROSITE_patterns:PS00427,Pfam_domain:PF00200,Gene3D:4.10.70.10,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000419446	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000487273	Transcript	1	.	ENSG00000168615	216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAM9_HUMAN	ADAM9	HGNC	B4DDM8_HUMAN	.	UPI0000048D87	SNV	ADAM9,synonymous_variant,p.%3D,ENST00000487273,;ADAM9,synonymous_variant,p.%3D,ENST00000468065,;ADAM9,synonymous_variant,p.%3D,ENST00000379917,;ADAM9,synonymous_variant,p.%3D,ENST00000481873,;	1485	103	172	SUCCESS
ADAM32	203102	.	GRCh37	8	39114704	39114704	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs758328501	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	78	67	2	ENST00000379907.4:c.2006-2A>T		p.X669_splice	ENST00000379907	NM_145004.5	669		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47846.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAGGTTC	NONE	byFrequency	.	.	.	.	ENSP00000369238	.	.	.	.	.	.	.	.	.	.	rs758328501	.	PASS	ENST00000379907	Transcript	.	.	ENSG00000197140	15479	.	.	HIGH	18/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADA32_HUMAN	ADAM32	HGNC	E5RJY7_HUMAN	.	UPI000013F62F	SNV	ADAM32,splice_acceptor_variant,,ENST00000379907,;ADAM32,splice_acceptor_variant,,ENST00000519315,;ADAM32,splice_acceptor_variant,,ENST00000437682,;ADAM32,splice_acceptor_variant,,ENST00000520691,;	.	69	125	SUCCESS
ZFHX4	79776	.	GRCh37	8	77766536	77766536	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	6	98	0	ENST00000521891.2:c.7379G>T	p.Gly2460Val	p.G2460V	ENST00000521891	NM_024721.4	2460	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS47878.2	7379	MUTECT|MUSE	.	TATCGGAAGAC	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Gly2415Val,ENST00000455469,;ZFHX4,missense_variant,p.Gly2434Val,ENST00000518282,;ZFHX4,missense_variant,p.Gly2415Val,ENST00000050961,;ZFHX4,missense_variant,p.Gly2460Val,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	7827	98	98	SUCCESS
PTPN3	5774	.	GRCh37	9	112190926	112190926	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	29	71	0	ENST00000374541.2:c.803T>G	p.Phe268Cys	p.F268C	ENST00000374541	NM_001145368.1	268	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS6776.1	803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGAACTTT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Pfam_domain:PF09380,Gene3D:2.30.29.30,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF50729	.	.	ENSP00000363667	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000374541	Transcript	.	.	ENSG00000070159	9655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTN3_HUMAN	PTPN3	HGNC	B7Z8K9_HUMAN	.	UPI000013D2D2	SNV	PTPN3,missense_variant,p.Phe137Cys,ENST00000446349,;PTPN3,missense_variant,p.Phe137Cys,ENST00000412145,;PTPN3,missense_variant,p.Phe159Cys,ENST00000262539,;PTPN3,missense_variant,p.Phe268Cys,ENST00000374541,;	908	71	40	SUCCESS
C9orf147	100133204	.	GRCh37	9	115248898	115248898	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	19	32	0	ENST00000457681.1:c.227-77C>T		p.*76*	ENST00000457681				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCCGCG	NONE	.	.	.	.	.	ENSP00000415527	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000457681	Transcript	.	.	ENSG00000230185	31438	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C9orf147	HGNC	U3KQ76_HUMAN	.	UPI000059DA5D	SNV	C9orf147,intron_variant,,ENST00000457681,;KIAA1958,upstream_gene_variant,,ENST00000536272,;KIAA1958,upstream_gene_variant,,ENST00000374244,;KIAA1958,upstream_gene_variant,,ENST00000337530,;C9orf147,non_coding_transcript_exon_variant,,ENST00000463223,;C9orf147,upstream_gene_variant,,ENST00000460965,;C9orf147,upstream_gene_variant,,ENST00000412934,;	.	32	30	SUCCESS
OR1J2	26740	.	GRCh37	9	125273731	125273731	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	63	127	0	ENST00000335302.5:c.651A>T	p.Ser217=	p.S217=	ENST00000335302	NM_054107.1	217	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS35121.1	651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCATATGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF324,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335575	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335302	Transcript	.	.	ENSG00000197233	8209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1J2_HUMAN	OR1J2	HGNC	.	.	UPI0000041CF3	SNV	OR1J2,synonymous_variant,p.%3D,ENST00000335302,;	651	127	92	SUCCESS
ACSL4	2182	.	GRCh37	X	108926763	108926763	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs748568299	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	31	37	0	ENST00000340800.2:c.-48A>C		p.*16*	ENST00000340800	NM_022977.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14548.1	.	MUTECT|MUSE	.	TTGGCTTTTGA	NONE	.	.	.	.	.	ENSP00000339787	.	4/17	.	.	.	.	.	.	.	.	rs748568299	4/17	PASS	ENST00000340800	Transcript	.	.	ENSG00000068366	3571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACSL4_HUMAN	ACSL4	HGNC	Q5JWV8_HUMAN,D6RFW9_HUMAN,D6RF95_HUMAN,D6RDA8_HUMAN,D6RD96_HUMAN	.	UPI000012E293	SNV	ACSL4,5_prime_UTR_variant,,ENST00000340800,;ACSL4,5_prime_UTR_variant,,ENST00000508092,;ACSL4,5_prime_UTR_variant,,ENST00000502391,;ACSL4,5_prime_UTR_variant,,ENST00000469857,;ACSL4,5_prime_UTR_variant,,ENST00000469796,;ACSL4,5_prime_UTR_variant,,ENST00000504980,;ACSL4,intron_variant,,ENST00000348502,;ACSL4,intron_variant,,ENST00000505855,;	458	37	40	SUCCESS
KIAA1210	57481	.	GRCh37	X	118222963	118222963	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	88	0	ENST00000402510.2:c.2230A>T	p.Ser744Cys	p.S744C	ENST00000402510	NM_020721.1	744	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS48156.1	2230	RADIA|MUTECT|MUSE|VARSCANS	.	AACACTTGCTG	NONE	.	.	hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036	.	.	ENSP00000384670	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.112)	.	tolerated(0.08)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Ser744Cys,ENST00000402510,;	2230	88	87	SUCCESS
SLITRK2	84631	.	GRCh37	X	144904522	144904522	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	97	0	ENST00000370490.1:c.579A>G	p.Leu193=	p.L193=	ENST00000370490		193	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS14680.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTAAAAGT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Pfam_domain:PF00560,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;SLITRK2,synonymous_variant,p.%3D,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	4834	97	93	SUCCESS
DMD	1756	.	GRCh37	X	32535970	32535970	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	73	105	0	ENST00000357033.4:c.2292+155A>T		p.*764*	ENST00000357033	NM_004007.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14233.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGATTTTGCT	NONE	.	.	.	.	.	ENSP00000354923	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODIFIER	18/78	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,3_prime_UTR_variant,,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000357033,;DMD,intron_variant,,ENST00000378677,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	.	105	94	SUCCESS
CXorf36	0	.	GRCh37	X	45051186	45051186	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	47	45	0	ENST00000398000.2:c.308A>T	p.Asp103Val	p.D103V	ENST00000398000	NM_176819.3	103	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS48096.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCATCTGAG	NONE	.	.	hmmpanther:PTHR32073:SF8,hmmpanther:PTHR32073	.	.	ENSP00000381086	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	SNV	CXorf36,missense_variant,p.Asp103Val,ENST00000377934,;CXorf36,missense_variant,p.Asp103Val,ENST00000398000,;RP11-342D14.1,intron_variant,,ENST00000438181,;RP11-342D14.1,intron_variant,,ENST00000450527,;CXorf36,upstream_gene_variant,,ENST00000477281,;CXorf36,upstream_gene_variant,,ENST00000492138,;	383	45	57	SUCCESS
DMRTC1	63947	.	GRCh37	X	72094770	72094770	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	32	0	ENST00000373529.5:c.146T>A	p.Leu49Gln	p.L49Q	ENST00000373529	NM_033053.2	49	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS35333.2	146	RADIA|VARSCANS	.	CAAGCAGCAGA	NONE	.	.	hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF58	.	.	ENSP00000362629	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000373529	Transcript	.	.	ENSG00000159123	13910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.164)	.	deleterious(0)	.	DMRTC_HUMAN	DMRTC1	HGNC	A6QRF2_HUMAN	.	UPI00001D7BE5	SNV	DMRTC1,missense_variant,p.Leu49Gln,ENST00000373529,;DMRTC1,intron_variant,,ENST00000373530,;DMRTC1,intron_variant,,ENST00000290273,;DMRTC1,missense_variant,p.Leu49Gln,ENST00000483816,;	426	32	27	SUCCESS
KIAA2022	0	.	GRCh37	X	73962219	73962219	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	49	0	ENST00000055682.6:c.2173G>T	p.Glu725Ter	p.E725*	ENST00000055682	NM_001008537.2	725	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS35337.1	2173	MUTECT|MUSE|VARSCANS	.	AGCTTCACTTT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,stop_gained,p.Glu725Ter,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	2785	49	62	SUCCESS
MAGEE2	139599	.	GRCh37	X	75004522	75004522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	55	0	ENST00000373359.2:c.365C>T	p.Ser122Leu	p.S122L	ENST00000373359	NM_138703.4	122	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS14431.1	365	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGAGTAC	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,missense_variant,p.Ser122Leu,ENST00000373359,;	558	55	89	SUCCESS
DCLRE1A	9937	.	GRCh37	10	115612648	115612648	+	synonymous_variant	Silent	SNP	T	T	C	rs776240542	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	63	121	0	ENST00000361384.2:c.294A>G	p.Pro98=	p.P98=	ENST00000361384	NM_014881.4	98	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7584.1	294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTGGAGT	NONE	.	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6	.	.	ENSP00000355185	.	1/9	.	.	.	.	.	.	.	.	rs776240542	1/9	PASS	ENST00000361384	Transcript	.	.	ENSG00000198924	17660	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCR1A_HUMAN	DCLRE1A	HGNC	.	.	UPI000006EFFE	SNV	DCLRE1A,synonymous_variant,p.%3D,ENST00000361384,;DCLRE1A,synonymous_variant,p.%3D,ENST00000369305,;NHLRC2,upstream_gene_variant,,ENST00000369301,;DCLRE1A,downstream_gene_variant,,ENST00000476112,;NHLRC2,upstream_gene_variant,,ENST00000468890,;	1212	121	68	SUCCESS
GPR123	0	.	GRCh37	10	134942314	134942314	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	52	69	0	ENST00000392607.3:c.982C>T	p.His328Tyr	p.H328Y	ENST00000392607	NM_001083909.1	328	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS41580.1	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCCACCCC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261	.	.	ENSP00000376384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000392607	Transcript	.	.	ENSG00000197177	13838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	tolerated(0.93)	.	GP123_HUMAN	GPR123	HGNC	.	.	UPI00003D41AD	SNV	GPR123,missense_variant,p.His1047Tyr,ENST00000607359,;GPR123,missense_variant,p.His231Tyr,ENST00000392606,;GPR123,missense_variant,p.His328Tyr,ENST00000392607,;	1418	69	56	SUCCESS
SLC39A12	221074	.	GRCh37	10	18242319	18242319	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	90	133	0	ENST00000377369.2:c.114G>C	p.Gly38=	p.G38=	ENST00000377369	NM_001145195.1	38	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS44362.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGAGTTC	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,synonymous_variant,p.%3D,ENST00000377369,;SLC39A12,synonymous_variant,p.%3D,ENST00000377371,;SLC39A12,synonymous_variant,p.%3D,ENST00000377374,;SLC39A12,intron_variant,,ENST00000539911,;	387	133	188	SUCCESS
MUC2	4583	.	GRCh37	11	1096352	1096352	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	37	0	ENST00000441003.2:c.6377A>G	p.His2126Arg	p.H2126R	ENST00000441003	NM_002457.2	2126	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	.	6377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCACTATG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	34/49	.	.	.	.	.	.	.	.	.	34/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.His264Arg,ENST00000361558,;MUC2,missense_variant,p.His2126Arg,ENST00000441003,;MUC2,3_prime_UTR_variant,,ENST00000333592,;MUC2,downstream_gene_variant,,ENST00000359061,;	6404	38	51	SUCCESS
ROBO4	54538	.	GRCh37	11	124756386	124756386	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377645881	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	62	123	0	ENST00000306534.3:c.2768C>T	p.Pro923Leu	p.P923L	ENST00000306534	NM_019055.5	923	cCc/cTc	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS8455.1	2768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGGCTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489	A:0	.	ENSP00000304945	A:0	16/18	.	.	.	.	.	.	.	.	rs377645881	16/18	PASS	ENST00000306534	Transcript	.	A:0.0004	ENSG00000154133	17985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.713)	A:0.002	deleterious(0.04)	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,missense_variant,p.Pro923Leu,ENST00000306534,;ROBO4,missense_variant,p.Pro778Leu,ENST00000533054,;RP11-664I21.6,upstream_gene_variant,,ENST00000524433,;RP11-664I21.5,intron_variant,,ENST00000524453,;ROBO4,non_coding_transcript_exon_variant,,ENST00000534407,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000525182,;	3254	123	69	SUCCESS
INS	3630	.	GRCh37	11	2181222	2181222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	22	40	0	ENST00000250971.3:c.193C>A	p.Gln65Lys	p.Q65K	ENST00000250971	NM_001185097.1	65	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS7729.1	193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGCCCCA	NONE	.	.	hmmpanther:PTHR11454:SF19,hmmpanther:PTHR11454,Pfam_domain:PF00049,SMART_domains:SM00078,Superfamily_domains:SSF56994	.	.	ENSP00000380432	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397262	Transcript	.	.	ENSG00000254647	6081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.9)	.	INS_HUMAN	INS	HGNC	I3WAC9_HUMAN,F6MZK5_HUMAN	.	UPI00000017EA	SNV	INS,missense_variant,p.Gln65Lys,ENST00000381330,;INS,missense_variant,p.Gln65Lys,ENST00000250971,;INS,missense_variant,p.Gln65Lys,ENST00000397262,;INS-IGF2,intron_variant,,ENST00000397270,;INS,intron_variant,,ENST00000421783,;INS,intron_variant,,ENST00000512523,;TH,downstream_gene_variant,,ENST00000352909,;TH,downstream_gene_variant,,ENST00000381178,;TH,downstream_gene_variant,,ENST00000333684,;TH,downstream_gene_variant,,ENST00000381175,;INS-IGF2,upstream_gene_variant,,ENST00000481781,;INS-IGF2,intron_variant,,ENST00000356578,;INS-IGF2,upstream_gene_variant,,ENST00000476874,;	426	40	38	SUCCESS
KIF18A	81930	.	GRCh37	11	28090820	28090820	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1234109074	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	9	68	0	ENST00000263181.6:c.1576G>A	p.Gly526Ser	p.G526S	ENST00000263181	NM_031217.3	526	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS7867.1	1576	MUTECT|MUSE	.	ATGACCGTTTT	NONE	.	.	hmmpanther:PTHR24115:SF399,hmmpanther:PTHR24115	.	.	ENSP00000263181	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000263181	Transcript	.	.	ENSG00000121621	29441	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.09)	.	KI18A_HUMAN	KIF18A	HGNC	.	.	UPI0000037CCC	SNV	KIF18A,missense_variant,p.Gly526Ser,ENST00000263181,;	1867	68	123	SUCCESS
OR5M9	390162	.	GRCh37	11	56230823	56230823	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	100	186	1	ENST00000279791.1:c.55C>T	p.Gln19Ter	p.Q19*	ENST00000279791	NM_001004743.1	19	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS31531.1	55	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGACGAC	NONE	.	.	hmmpanther:PTHR26452:SF13,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000279791	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000279791	Transcript	.	.	ENSG00000150269	15294	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5M9_HUMAN	OR5M9	HGNC	.	.	UPI0000061E81	SNV	OR5M9,stop_gained,p.Gln19Ter,ENST00000279791,;	55	187	114	SUCCESS
GYS2	2998	.	GRCh37	12	21757510	21757510	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs141614479	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	84	147	0	ENST00000261195.2:c.17C>G	p.Ser6Cys	p.S6C	ENST00000261195	NM_021957.3	6	tCc/tGc	0	C:0	.	.	.	.	C	S/C	protein_coding	YES	CCDS8690.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGGATCGG	NONE	byCluster	.	hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176	.	C:0.0001	ENSP00000261195	.	1/16	.	.	.	.	.	.	.	.	rs141614479	1/16	PASS	ENST00000261195	Transcript	.	.	ENSG00000111713	4707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	GYS2_HUMAN	GYS2	HGNC	.	.	UPI000013D13D	SNV	GYS2,missense_variant,p.Ser6Cys,ENST00000261195,;	272	147	193	SUCCESS
LRRK2	120892	.	GRCh37	12	40689286	40689286	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1427858582	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	41	55	0	ENST00000298910.7:c.2936C>T	p.Ser979Phe	p.S979F	ENST00000298910	NM_198578.3	979	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS31774.1	2936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCTGAGA	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000298910	.	23/51	.	.	.	.	.	.	.	.	.	23/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.72)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Ser979Phe,ENST00000343742,;LRRK2,missense_variant,p.Ser979Phe,ENST00000298910,;LRRK2,upstream_gene_variant,,ENST00000479187,;LRRK2,upstream_gene_variant,,ENST00000430804,;	2994	55	82	SUCCESS
LRRK2	120892	.	GRCh37	12	40697826	40697826	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	73	1	ENST00000298910.7:c.3667A>T	p.Arg1223Trp	p.R1223W	ENST00000298910	NM_198578.3	1223	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS31774.1	3667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTAAGGGAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000298910	.	27/51	.	.	.	.	.	.	.	.	.	27/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Arg1223Trp,ENST00000343742,;LRRK2,missense_variant,p.Arg1223Trp,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	3725	74	102	SUCCESS
DIP2B	57609	.	GRCh37	12	51080430	51080430	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	59	93	0	ENST00000301180.5:c.1516A>C	p.Ile506Leu	p.I506L	ENST00000301180	NM_173602.2	506	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS31799.1	1516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACATCTCA	NONE	.	.	hmmpanther:PTHR22754:SF22,hmmpanther:PTHR22754,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000301180	.	12/38	.	.	.	.	.	.	.	.	.	12/38	PASS	ENST00000301180	Transcript	.	.	ENSG00000066084	29284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.45)	.	DIP2B_HUMAN	DIP2B	HGNC	Q96IB4_HUMAN	.	UPI0000406CA1	SNV	DIP2B,missense_variant,p.Ile506Leu,ENST00000301180,;DIP2B,missense_variant,p.Ile50Leu,ENST00000546732,;DIP2B,non_coding_transcript_exon_variant,,ENST00000552328,;	1550	94	131	SUCCESS
TIMELESS	8914	.	GRCh37	12	56811967	56811967	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750483630	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	39	59	0	ENST00000553532.1:c.3405G>T	p.Arg1135Ser	p.R1135S	ENST00000553532		1135	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS8918.1	3405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCCTCAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF05029,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	27/29	.	.	.	.	.	.	.	.	rs750483630	27/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated_low_confidence(0.34)	.	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,missense_variant,p.Arg1135Ser,ENST00000553532,;TIMELESS,missense_variant,p.Arg632Ser,ENST00000554616,;TIMELESS,missense_variant,p.Arg1134Ser,ENST00000229201,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,downstream_gene_variant,,ENST00000553314,;TIMELESS,downstream_gene_variant,,ENST00000555808,;	3556	59	81	SUCCESS
NANOGP1	404635	.	GRCh37	12	8051356	8051356	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	33	0	ENST00000607111.1:n.576C>A		p.*192*	ENST00000607111				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	ATTCTCCTGCC	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000607111	Transcript	.	.	ENSG00000176654	23099	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NANOGP1	HGNC	.	.	.	SNV	NANOGP1,non_coding_transcript_exon_variant,,ENST00000607111,;NANOGP1,non_coding_transcript_exon_variant,,ENST00000525030,;RP11-277E18.2,upstream_gene_variant,,ENST00000533382,;	576	33	26	SUCCESS
OTOGL	283310	.	GRCh37	12	80712338	80712338	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	36	64	0	ENST00000547103.1:c.3620G>T	p.Gly1207Val	p.G1207V	ENST00000547103		1207	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	3620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGACCAT	NONE	.	.	Superfamily_domains:0050434,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	32/58	.	.	.	.	.	.	.	.	.	32/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Gly1207Val,ENST00000458043,;OTOGL,missense_variant,p.Gly1207Val,ENST00000547103,;	3626	64	72	SUCCESS
ZIC2	7546	.	GRCh37	13	100634416	100634416	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	160	206	0	ENST00000376335.3:c.98C>T	p.Ala33Val	p.A33V	ENST00000376335	NM_007129.3	33	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9495.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGCCGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27	.	.	ENSP00000365514	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376335	Transcript	.	.	ENSG00000043355	12873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.239)	.	deleterious_low_confidence(0.01)	.	ZIC2_HUMAN	ZIC2	HGNC	.	.	UPI000013C3DC	SNV	ZIC2,missense_variant,p.Ala33Val,ENST00000376335,;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000490085,;ZIC2,upstream_gene_variant,,ENST00000481565,;	391	207	278	SUCCESS
MIPEP	4285	.	GRCh37	13	24411689	24411689	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	65	92	0	ENST00000382172.3:c.1543+2T>A		p.X515_splice	ENST00000382172	NM_005932.3	515		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9303.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCACCAGT	NONE	.	.	.	.	.	ENSP00000371607	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382172	Transcript	.	.	ENSG00000027001	7104	.	.	HIGH	13/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIPEP_HUMAN	MIPEP	HGNC	.	.	UPI000013C54A	SNV	MIPEP,splice_donor_variant,,ENST00000382172,;MIPEP,downstream_gene_variant,,ENST00000494139,;	.	92	130	SUCCESS
AMER2	219287	.	GRCh37	13	25744258	25744258	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	55	0	ENST00000515384.1:c.1500C>A	p.Pro500=	p.P500=	ENST00000515384		500	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS53859.1	1500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGGGCTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF09422,hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237	.	.	ENSP00000426528	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000515384	Transcript	.	.	ENSG00000165566	26360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMER2_HUMAN	AMER2	HGNC	Q8N785_HUMAN	.	UPI0000231C76	SNV	AMER2,synonymous_variant,p.%3D,ENST00000515384,;AMER2,synonymous_variant,p.%3D,ENST00000357816,;AMER2,synonymous_variant,p.%3D,ENST00000381853,;AMER2-AS1,downstream_gene_variant,,ENST00000413501,;	2168	55	66	SUCCESS
VWA8	23078	.	GRCh37	13	42390845	42390846	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	143	66	129	0	ENST00000379310.3:c.1935dup	p.Gln646ThrfsTer29	p.Q646Tfs*29	ENST00000379310	NM_015058.1	645	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS41881.1	1935-1936	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCTGTGTTT	NONE	.	.	hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9,Superfamily_domains:SSF52540	.	.	ENSP00000368612	.	16/45	.	.	.	.	.	.	.	.	.	16/45	PASS	ENST00000379310	Transcript	.	.	ENSG00000102763	29071	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VWA8_HUMAN	VWA8	HGNC	.	.	UPI00001606AC	insertion	VWA8,frameshift_variant,p.Gln646ThrfsTer29,ENST00000281496,;VWA8,frameshift_variant,p.Gln646ThrfsTer29,ENST00000379310,;	2004-2005	129	209	SUCCESS
PCDH20	64881	.	GRCh37	13	61985638	61985638	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs375289034	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	60	97	0	ENST00000409186.1:c.2594T>C	p.Ile865Thr	p.I865T	ENST00000409186		865	aTa/aCa	0	G:0.0005	.	.	.	.	G	I/T	protein_coding	YES	CCDS9442.2	2594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATATTA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24	.	G:0	ENSP00000386653	.	5/5	.	.	.	.	.	.	.	.	rs375289034	5/5	PASS	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	tolerated(0.12)	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,missense_variant,p.Ile865Thr,ENST00000409204,;PCDH20,missense_variant,p.Ile865Thr,ENST00000409186,;	4700	97	65	SUCCESS
MYCBP2	23077	.	GRCh37	13	77661633	77661633	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	161	0	ENST00000357337.6:c.10747G>A	p.Glu3583Lys	p.E3583K	ENST00000357337		3583	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	.	10747	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTTTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	62/83	.	.	.	.	.	.	.	.	.	62/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.881)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Glu3583Lys,ENST00000357337,;MYCBP2,missense_variant,p.Glu7Lys,ENST00000429715,;MYCBP2,missense_variant,p.Glu3583Lys,ENST00000544440,;MYCBP2,missense_variant,p.Glu3621Lys,ENST00000407578,;MYCBP2-AS1,intron_variant,,ENST00000422231,;MYCBP2-AS1,intron_variant,,ENST00000450627,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000448470,;	10765	161	104	SUCCESS
HSP90AA1	3320	.	GRCh37	14	102548068	102548068	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778338593	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	60	0	ENST00000216281.8:c.2180G>A	p.Arg727His	p.R727H	ENST00000216281	NM_005348.3	727	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS32160.1	2546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCGTGAT	NONE	.	.	hmmpanther:PTHR11528,Pfam_domain:PF00183	.	.	ENSP00000335153	.	12/12	.	.	.	.	.	.	.	.	rs778338593	12/12	PASS	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	SNV	HSP90AA1,missense_variant,p.Arg849His,ENST00000334701,;HSP90AA1,missense_variant,p.Arg727His,ENST00000216281,;HSP90AA1,downstream_gene_variant,,ENST00000441629,;HSP90AA1,downstream_gene_variant,,ENST00000553585,;RN7SL472P,upstream_gene_variant,,ENST00000492799,;HSP90AA1,downstream_gene_variant,,ENST00000554401,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;HSP90AA1,downstream_gene_variant,,ENST00000560130,;HSP90AA1,downstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;	2828	60	80	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36155747	36155747	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	146	322	0	ENST00000389698.3:c.2559+1G>T		p.X853_splice	ENST00000389698	NM_014990.1	853		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32064.1	.	RADIA|MUTECT|MUSE	.	ACTTACCGAGG	NONE	.	.	.	.	.	ENSP00000302647	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	HIGH	18/39	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,splice_donor_variant,,ENST00000389698,;RALGAPA1,splice_donor_variant,,ENST00000553892,;RALGAPA1,splice_donor_variant,,ENST00000258840,;RALGAPA1,splice_donor_variant,,ENST00000382366,;RALGAPA1,splice_donor_variant,,ENST00000307138,;RALGAPA1,splice_donor_variant,,ENST00000554652,;RALGAPA1,downstream_gene_variant,,ENST00000553917,;RALGAPA1,upstream_gene_variant,,ENST00000557638,;RALGAPA1,downstream_gene_variant,,ENST00000556839,;	.	322	159	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36155768	36155768	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	153	336	0	ENST00000389698.3:c.2539C>G	p.Leu847Val	p.L847V	ENST00000389698	NM_014990.1	847	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS32064.1	2539	RADIA|MUTECT|MUSE	.	TCGAAGTCGTT	NONE	.	.	hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063	.	.	ENSP00000302647	.	18/40	.	.	.	.	.	.	.	.	.	18/40	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.793)	.	tolerated(0.14)	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,missense_variant,p.Leu847Val,ENST00000389698,;RALGAPA1,missense_variant,p.Leu894Val,ENST00000553892,;RALGAPA1,missense_variant,p.Leu894Val,ENST00000258840,;RALGAPA1,missense_variant,p.Leu860Val,ENST00000382366,;RALGAPA1,missense_variant,p.Leu847Val,ENST00000307138,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000556839,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,downstream_gene_variant,,ENST00000553917,;RALGAPA1,upstream_gene_variant,,ENST00000557638,;	3008	336	165	SUCCESS
SOS2	6655	.	GRCh37	14	50623681	50623681	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	23	0	ENST00000216373.5:c.2057+36C>T		p.*686*	ENST00000216373	NM_006939.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9697.1	.	MUTECT|MUSE	.	TATGTGTATAT	NONE	.	.	.	.	.	ENSP00000216373	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216373	Transcript	.	.	ENSG00000100485	11188	.	.	MODIFIER	12/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOS2_HUMAN	SOS2	HGNC	B4DJ05_HUMAN	.	UPI000013C6E8	SNV	SOS2,intron_variant,,ENST00000543680,;SOS2,intron_variant,,ENST00000216373,;SOS2,non_coding_transcript_exon_variant,,ENST00000555794,;	.	23	28	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77493105	77493105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	78	0	ENST00000238647.3:c.1031T>C	p.Leu344Ser	p.L344S	ENST00000238647	NM_024496.3	344	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS9854.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCAACTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF14,hmmpanther:PTHR10816	.	.	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,missense_variant,p.Leu344Ser,ENST00000238647,;	1930	78	105	SUCCESS
UNC79	57578	.	GRCh37	14	94004493	94004493	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	68	107	0	ENST00000393151.2:c.1281C>T	p.Thr427=	p.T427=	ENST00000393151		427	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9911.2	750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCTCTCC	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696,Pfam_domain:PF14776	.	.	ENSP00000256339	.	12/50	.	.	.	.	.	.	.	.	.	12/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,synonymous_variant,p.%3D,ENST00000393151,;UNC79,synonymous_variant,p.%3D,ENST00000256339,;UNC79,synonymous_variant,p.%3D,ENST00000553484,;UNC79,synonymous_variant,p.%3D,ENST00000555664,;	1405	107	143	SUCCESS
ATG2B	55102	.	GRCh37	14	96775858	96775858	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	59	93	0	ENST00000359933.4:c.4235T>C	p.Leu1412Pro	p.L1412P	ENST00000359933	NM_018036.5	1412	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9944.2	4235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCAGATCT	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	29/42	.	.	.	.	.	.	.	.	.	29/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.05)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Leu1412Pro,ENST00000359933,;ATG2B,non_coding_transcript_exon_variant,,ENST00000261834,;	5129	93	143	SUCCESS
IGHV4OR15-8	28317	.	GRCh37	15	22473224	22473224	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs775790301	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	246	73	244	0	ENST00000557788.2:c.47G>T	p.Trp16Leu	p.W16L	ENST00000557788		16	tGg/tTg	0	.	.	.	.	.	A	W/L	IG_V_gene	YES	.	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCCTGTG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000473987	.	2/2	.	.	.	.	.	.	.	.	rs775790301	2/2	PASS	ENST00000557788	Transcript	.	.	ENSG00000259261	5658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.06)	.	IV4F8_HUMAN	IGHV4OR15-8	HGNC	.	.	UPI0003335098	SNV	IGHV4OR15-8,missense_variant,p.Trp16Leu,ENST00000557788,;	47	244	319	SUCCESS
CHRNA7	1139	.	GRCh37	15	32455506	32455506	+	synonymous_variant	Silent	SNP	C	C	T	rs753933393	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	235	328	0	ENST00000306901.3:c.960C>T	p.His320=	p.H320=	ENST00000306901	NM_000746.5	320	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS53924.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGACCC	NONE	byFrequency	.	Superfamily_domains:SSF90112,Gene3D:1.20.120.370,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	.	.	ENSP00000407546	.	9/10	.	.	.	.	.	.	.	.	rs753933393,COSM960446	9/10	PASS	ENST00000454250	Transcript	1	.	ENSG00000175344	1960	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,synonymous_variant,p.%3D,ENST00000454250,;CHRNA7,synonymous_variant,p.%3D,ENST00000455693,;CHRNA7,synonymous_variant,p.%3D,ENST00000306901,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;	1154	328	483	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45707864	45707864	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	59	0	ENST00000305560.6:c.1724C>G	p.Ala575Gly	p.A575G	ENST00000305560	NM_024063.2	575	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS10123.1	1724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCCAGCA	NONE	.	.	hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000305494	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.37)	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,missense_variant,p.Ala575Gly,ENST00000305560,;SPATA5L1,missense_variant,p.Ala575Gly,ENST00000559860,;SPATA5L1,missense_variant,p.Ala80Gly,ENST00000531624,;SPATA5L1,upstream_gene_variant,,ENST00000533841,;SPATA5L1,missense_variant,p.Ala575Gly,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000533199,;	1823	59	104	SUCCESS
PYGO1	26108	.	GRCh37	15	55838901	55838901	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	98	142	0	ENST00000302000.6:c.580C>A	p.Gln194Lys	p.Q194K	ENST00000302000	NM_015617.2	194	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS10155.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGGCTAG	NONE	.	.	hmmpanther:PTHR23194:SF3,hmmpanther:PTHR23194	.	.	ENSP00000302327	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302000	Transcript	.	.	ENSG00000171016	30256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	deleterious(0.03)	.	PYGO1_HUMAN	PYGO1	HGNC	.	.	UPI00000510D0	SNV	PYGO1,missense_variant,p.Gln194Lys,ENST00000302000,;PYGO1,missense_variant,p.Gln194Lys,ENST00000563719,;	675	142	221	SUCCESS
DNAJA4	55466	.	GRCh37	15	78566662	78566662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	39	129	0	ENST00000343789.3:c.542G>T	p.Cys181Phe	p.C181F	ENST00000343789		181	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS10299.2	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTGCAAGG	NONE	.	.	HAMAP:MF_01152,PROSITE_profiles:PS51188,hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF75,Pfam_domain:PF00684,Gene3D:2.10.230.10,Superfamily_domains:SSF57938	.	.	ENSP00000378324	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000394855	Transcript	.	.	ENSG00000140403	14885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	deleterious(0.02)	.	DNJA4_HUMAN	DNAJA4	HGNC	Q8N2A9_HUMAN,Q7Z4D5_HUMAN,C9JDE6_HUMAN	.	UPI00001FE98C	SNV	DNAJA4,missense_variant,p.Cys210Phe,ENST00000394855,;DNAJA4,missense_variant,p.Cys181Phe,ENST00000394852,;DNAJA4,missense_variant,p.Cys181Phe,ENST00000343789,;DNAJA4,missense_variant,p.Cys154Phe,ENST00000446172,;WDR61,downstream_gene_variant,,ENST00000558453,;WDR61,downstream_gene_variant,,ENST00000560807,;DNAJA4,missense_variant,p.Cys181Phe,ENST00000483802,;DNAJA4,missense_variant,p.Cys181Phe,ENST00000440911,;DNAJA4,3_prime_UTR_variant,,ENST00000542636,;DNAJA4,non_coding_transcript_exon_variant,,ENST00000485075,;DNAJA4,upstream_gene_variant,,ENST00000480425,;DNAJA4,downstream_gene_variant,,ENST00000423642,;DNAJA4,upstream_gene_variant,,ENST00000493321,;	857	129	129	SUCCESS
MTHFS	10588	.	GRCh37	15	80189340	80189340	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	32	0	ENST00000258874.3:c.-10T>A		p.*4*	ENST00000258874	NM_006441.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10311.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCAAGCCG	NONE	.	.	.	.	.	ENSP00000258874	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258874	Transcript	.	.	ENSG00000136371	7437	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTHFS_HUMAN	MTHFS	HGNC	Q96EE9_HUMAN	.	UPI000013D00E	SNV	MTHFS,5_prime_UTR_variant,,ENST00000258874,;ST20-MTHFS,intron_variant,,ENST00000479961,;ST20,downstream_gene_variant,,ENST00000562759,;ST20,downstream_gene_variant,,ENST00000478497,;ST20,downstream_gene_variant,,ENST00000485386,;ST20-MTHFS,intron_variant,,ENST00000494999,;MTHFS,intron_variant,,ENST00000559722,;MTHFS,upstream_gene_variant,,ENST00000560919,;	52	32	37	SUCCESS
AKAP13	11214	.	GRCh37	15	86077259	86077259	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	18	0	ENST00000394518.2:c.478+148A>G		p.*160*	ENST00000394518	NM_007200.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32320.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAATGGCA	NONE	.	.	.	.	.	ENSP00000354718	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	MODIFIER	4/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,3_prime_UTR_variant,,ENST00000560302,;AKAP13,intron_variant,,ENST00000394518,;AKAP13,intron_variant,,ENST00000559362,;AKAP13,intron_variant,,ENST00000361243,;	.	18	30	SUCCESS
ACSM5	54988	.	GRCh37	16	20451162	20451162	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	42	122	0	ENST00000331849.4:c.1577C>G	p.Ser526Cys	p.S526C	ENST00000331849	NM_017888.2	526	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS10585.1	1577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCTCATG	NONE	.	.	Superfamily_domains:SSF56801,Pfam_domain:PF13193,Gene3D:3.30.300.30,hmmpanther:PTHR24095:SF105,hmmpanther:PTHR24095	.	.	ENSP00000327916	.	13/14	.	.	.	.	.	.	.	.	COSM3506938	13/14	PASS	ENST00000331849	Transcript	.	.	ENSG00000183549	26060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.064)	.	deleterious(0.01)	1	ACSM5_HUMAN	ACSM5	HGNC	.	.	UPI00001FEFB3	SNV	ACSM5,missense_variant,p.Ser526Cys,ENST00000331849,;CTD-2194A8.2,downstream_gene_variant,,ENST00000575772,;CTD-2194A8.2,downstream_gene_variant,,ENST00000574654,;ACSM5,non_coding_transcript_exon_variant,,ENST00000577024,;	1724	122	144	SUCCESS
KREMEN2	79412	.	GRCh37	16	3017804	3017804	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	12	113	2	ENST00000303746.5:c.1179-7T>C		p.X393_splice	ENST00000303746		393		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10483.1	.	MUTECT|MUSE	.	CTCCCTCTCTA	NONE	.	.	.	.	.	ENSP00000304422	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303746	Transcript	.	.	ENSG00000131650	18797	.	.	LOW	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KREM2_HUMAN	KREMEN2	HGNC	.	.	UPI000006F428	SNV	KREMEN2,splice_region_variant,,ENST00000303746,;KREMEN2,splice_region_variant,,ENST00000319500,;KREMEN2,splice_region_variant,,ENST00000571007,;KREMEN2,splice_region_variant,,ENST00000575885,;KREMEN2,3_prime_UTR_variant,,ENST00000572045,;KREMEN2,3_prime_UTR_variant,,ENST00000575769,;PAQR4,upstream_gene_variant,,ENST00000572687,;PAQR4,upstream_gene_variant,,ENST00000576565,;PAQR4,upstream_gene_variant,,ENST00000293978,;PKMYT1,downstream_gene_variant,,ENST00000262300,;PAQR4,upstream_gene_variant,,ENST00000318782,;PAQR4,upstream_gene_variant,,ENST00000574988,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000431515,;PKMYT1,downstream_gene_variant,,ENST00000440027,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,downstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000572832,;	.	116	160	SUCCESS
CTF1	1489	.	GRCh37	16	30913422	30913422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	59	0	ENST00000279804.2:c.168C>A	p.Phe56Leu	p.F56L	ENST00000279804	NM_001142544.1	56	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS10694.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTCGGGCT	NONE	.	.	hmmpanther:PTHR21353,hmmpanther:PTHR21353:SF5,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000279804	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000279804	Transcript	.	.	ENSG00000150281	2499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	CTF1_HUMAN	CTF1	HGNC	.	.	UPI00000495C8	SNV	CTF1,missense_variant,p.Phe55Leu,ENST00000395019,;CTF1,missense_variant,p.Phe56Leu,ENST00000279804,;CTF2P,downstream_gene_variant,,ENST00000412003,;	205	60	68	SUCCESS
CAPN15	6650	.	GRCh37	16	597393	597393	+	synonymous_variant	Silent	SNP	G	G	A	rs773340995	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	57	0	ENST00000219611.2:c.555G>A	p.Pro185=	p.P185=	ENST00000219611	NM_005632.2	185	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10410.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGGAAGT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183	.	.	ENSP00000219611	.	4/14	.	.	.	.	.	.	.	.	rs773340995	4/14	PASS	ENST00000219611	Transcript	.	.	ENSG00000103326	11182	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN15_HUMAN	CAPN15	HGNC	H3BR03_HUMAN	.	UPI0000071B68	SNV	CAPN15,synonymous_variant,p.%3D,ENST00000219611,;CAPN15,intron_variant,,ENST00000568988,;CAPN15,downstream_gene_variant,,ENST00000562370,;MIR3176,downstream_gene_variant,,ENST00000582210,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	918	57	65	SUCCESS
CAPN15	6650	.	GRCh37	16	597394	597394	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	57	0	ENST00000219611.2:c.556G>T	p.Glu186Ter	p.E186*	ENST00000219611	NM_005632.2	186	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10410.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGGAAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183	.	.	ENSP00000219611	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000219611	Transcript	.	.	ENSG00000103326	11182	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN15_HUMAN	CAPN15	HGNC	H3BR03_HUMAN	.	UPI0000071B68	SNV	CAPN15,stop_gained,p.Glu186Ter,ENST00000219611,;CAPN15,intron_variant,,ENST00000568988,;CAPN15,downstream_gene_variant,,ENST00000562370,;MIR3176,downstream_gene_variant,,ENST00000582210,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	919	57	65	SUCCESS
SLC12A4	6560	.	GRCh37	16	67995510	67995510	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	52	68	0	ENST00000316341.3:c.310A>G	p.Ser104Gly	p.S104G	ENST00000316341	NM_001145961.1	104	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS54032.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACTCTCGG	NONE	.	.	TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46	.	.	ENSP00000395983	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated(0.09)	.	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,missense_variant,p.Ser98Gly,ENST00000537830,;SLC12A4,missense_variant,p.Ser73Gly,ENST00000541864,;SLC12A4,missense_variant,p.Ser104Gly,ENST00000576616,;SLC12A4,missense_variant,p.Ser104Gly,ENST00000338335,;SLC12A4,missense_variant,p.Ser56Gly,ENST00000572037,;SLC12A4,missense_variant,p.Ser104Gly,ENST00000316341,;SLC12A4,missense_variant,p.Ser106Gly,ENST00000422611,;SLC12A4,5_prime_UTR_variant,,ENST00000571299,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000576462,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,intron_variant,,ENST00000576377,;	356	68	54	SUCCESS
WWOX	51741	.	GRCh37	16	78420833	78420833	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs577414279	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	33	62	1	ENST00000566780.1:c.593A>T	p.Lys198Met	p.K198M	ENST00000566780	NM_016373.2	198	aAg/aTg	0	.	T:0.0008	.	T:0	.	T	K/M	protein_coding	YES	CCDS42196.1	593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAAGGCCA	NONE	by1000G	.	hmmpanther:PTHR24310:SF30,hmmpanther:PTHR24310,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	T:0	.	ENSP00000457230	T:0	6/9	.	.	.	.	.	.	.	.	rs577414279	6/9	PASS	ENST00000566780	Transcript	.	T:0.0002	ENSG00000186153	12799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	T:0	deleterious(0.03)	.	WWOX_HUMAN	WWOX	HGNC	.	.	UPI000004C797	SNV	WWOX,missense_variant,p.Lys198Met,ENST00000408984,;WWOX,missense_variant,p.Lys198Met,ENST00000566780,;WWOX,intron_variant,,ENST00000406884,;WWOX,intron_variant,,ENST00000539474,;WWOX,intron_variant,,ENST00000402655,;WWOX,non_coding_transcript_exon_variant,,ENST00000562639,;WWOX,3_prime_UTR_variant,,ENST00000566662,;WWOX,3_prime_UTR_variant,,ENST00000569332,;	959	63	36	SUCCESS
MYH1	4619	.	GRCh37	17	10408279	10408279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	59	99	0	ENST00000226207.5:c.2539G>T	p.Ala847Ser	p.A847S	ENST00000226207	NM_005963.3	847	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11155.1	2539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCACTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	22/40	.	.	.	.	.	.	.	.	.	22/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Ala847Ser,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2634	99	62	SUCCESS
NOS2	4843	.	GRCh37	17	26089884	26089884	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767806769	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	6	60	0	ENST00000313735.6:c.2740C>T	p.Arg914Trp	p.R914W	ENST00000313735	NM_000625.4	914	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11223.1	2740	MUTECT|MUSE	.	ATCCCGGGAGG	NONE	byFrequency	.	PROSITE_profiles:PS51384,hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Pfam_domain:PF00667,Gene3D:2.40.30.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380	.	.	ENSP00000327251	.	22/27	.	.	.	.	.	.	.	.	rs767806769	22/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	deleterious(0.04)	.	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,missense_variant,p.Arg914Trp,ENST00000313735,;	2974	60	83	SUCCESS
MRM1	79922	.	GRCh37	17	34958498	34958498	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	50	0	ENST00000250156.7:c.259G>T	p.Glu87Ter	p.E87*	ENST00000250156	NM_024864.3	87	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS32631.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGAGCTG	NONE	.	.	hmmpanther:PTHR12029:SF7,hmmpanther:PTHR12029,Gene3D:3.30.1330.30,TIGRFAM_domain:TIGR00186,Pfam_domain:PF08032,SMART_domains:SM00967,Superfamily_domains:SSF55315	.	.	ENSP00000250156	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000250156	Transcript	.	.	ENSG00000129282	26202	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRM1_HUMAN	MRM1	HGNC	K7EJT9_HUMAN	.	UPI000004B637	SNV	MRM1,stop_gained,p.Glu87Ter,ENST00000250156,;MRM1,5_prime_UTR_variant,,ENST00000585770,;DHRS11,downstream_gene_variant,,ENST00000590554,;DHRS11,downstream_gene_variant,,ENST00000491046,;DHRS11,downstream_gene_variant,,ENST00000585376,;DHRS11,downstream_gene_variant,,ENST00000251312,;DHRS11,downstream_gene_variant,,ENST00000593204,;DHRS11,downstream_gene_variant,,ENST00000590527,;DHRS11,downstream_gene_variant,,ENST00000586848,;	498	50	62	SUCCESS
MSI2	124540	.	GRCh37	17	55752442	55752442	+	synonymous_variant	Silent	SNP	T	T	C	rs376818853	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	98	187	0	ENST00000284073.2:c.900T>C	p.Ser300=	p.S300=	ENST00000284073	NM_138962.2	300	agT/agC	0	C:0	.	.	.	.	C	S	protein_coding	YES	CCDS11596.1	900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGTGCGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF324	.	C:0.0001	ENSP00000284073	.	12/14	.	.	.	.	.	.	.	.	rs376818853	12/14	PASS	ENST00000284073	Transcript	.	.	ENSG00000153944	18585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSI2H_HUMAN	MSI2	HGNC	.	.	UPI0000070D73	SNV	MSI2,synonymous_variant,p.%3D,ENST00000284073,;MSI2,synonymous_variant,p.%3D,ENST00000442934,;MSI2,synonymous_variant,p.%3D,ENST00000416426,;MSI2,downstream_gene_variant,,ENST00000579466,;MSI2,downstream_gene_variant,,ENST00000579505,;	1109	187	267	SUCCESS
SMG8	55181	.	GRCh37	17	57290544	57290544	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1412524110	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	71	90	0	ENST00000300917.5:c.2360G>A	p.Gly787Asp	p.G787D	ENST00000300917	NM_018149.6	787	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS11615.1	2360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGCTTTA	NONE	.	.	hmmpanther:PTHR13091,hmmpanther:PTHR13091:SF0,Pfam_domain:PF10220	.	.	ENSP00000438748	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000543872	Transcript	.	.	ENSG00000167447	25551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SMG8_HUMAN	SMG8	HGNC	.	.	UPI000006CCB5	SNV	SMG8,missense_variant,p.Gly787Asp,ENST00000543872,;SMG8,missense_variant,p.Gly787Asp,ENST00000300917,;CTD-2510F5.6,intron_variant,,ENST00000577660,;SMG8,intron_variant,,ENST00000582469,;SMG8,downstream_gene_variant,,ENST00000578922,;SMG8,downstream_gene_variant,,ENST00000580498,;SMG8,downstream_gene_variant,,ENST00000580798,;	2624	90	136	SUCCESS
KIAA0195	0	.	GRCh37	17	73487458	73487458	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779004027	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	51	83	0	ENST00000314256.7:c.1308C>A	p.Ser436Arg	p.S436R	ENST00000314256	NM_014738.4	436	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS32732.1	1308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCGGGAA	NONE	byFrequency	.	hmmpanther:PTHR13219:SF6,hmmpanther:PTHR13219	.	.	ENSP00000313885	.	13/32	.	.	.	.	.	.	.	.	rs779004027	13/32	PASS	ENST00000314256	Transcript	.	.	ENSG00000177728	28983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	K0195_HUMAN	KIAA0195	HGNC	J3QS17_HUMAN,J3QRT3_HUMAN,J3QLM7_HUMAN,J3KT63_HUMAN,J3KRU7_HUMAN	.	UPI0000139439	SNV	KIAA0195,missense_variant,p.Ser60Arg,ENST00000580918,;KIAA0195,missense_variant,p.Ser87Arg,ENST00000579208,;KIAA0195,missense_variant,p.Ser436Arg,ENST00000314256,;KIAA0195,missense_variant,p.Ser88Arg,ENST00000581252,;KIAA0195,missense_variant,p.Ser446Arg,ENST00000375248,;KIAA0195,coding_sequence_variant,p.%3D,ENST00000578853,;KIAA0195,downstream_gene_variant,,ENST00000577380,;KIAA0195,upstream_gene_variant,,ENST00000577247,;KIAA0195,downstream_gene_variant,,ENST00000581519,;KIAA0195,downstream_gene_variant,,ENST00000580416,;KIAA0195,downstream_gene_variant,,ENST00000583795,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000585105,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000579241,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000581085,;KIAA0195,downstream_gene_variant,,ENST00000580849,;KIAA0195,upstream_gene_variant,,ENST00000579898,;KIAA0195,upstream_gene_variant,,ENST00000583071,;KIAA0195,upstream_gene_variant,,ENST00000583296,;KIAA0195,upstream_gene_variant,,ENST00000581723,;KIAA0195,downstream_gene_variant,,ENST00000579707,;KIAA0195,downstream_gene_variant,,ENST00000580441,;KIAA0195,upstream_gene_variant,,ENST00000581867,;KIAA0195,downstream_gene_variant,,ENST00000584383,;KIAA0195,upstream_gene_variant,,ENST00000578624,;KIAA0195,upstream_gene_variant,,ENST00000582843,;	1702	83	122	SUCCESS
TP53	7157	.	GRCh37	17	7578500	7578500	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs757274881	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	67	79	0	ENST00000269305.4:c.430C>T	p.Gln144Ter	p.Q144*	ENST00000269305	NM_001126112.2	144	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11118.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGCACAG	SITE|p.Q12*|c.34C>T|10,SITE|p.Q144*|c.430C>T|3,SITE|p.Q144*|c.430C>T|39,SITE|p.Q144*|c.430C>T|10,SITE|p.Q51*|c.151C>T|10,SITE|p.Q144*|c.430C>T|9,SITE|p.Q144*|c.430C>T|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.Q144H|c.432G>C|3,CODON|p.Q144fs*26|c.430delC|3,CODON|p.Q144R|c.431A>G|5,CODON|p.Q144L|c.431A>T|9,CODON|p.Q144P|c.431A>C|5,BUFFER|p.V147V|c.441T>G|3,BUFFER|p.V147G|c.440T>G|8,BUFFER|p.V147D|c.440T>A|3,BUFFER|p.V147fs*23|c.439delG|7,BUFFER|p.V147I|c.439G>A|6,BUFFER|p.W146*|c.438G>A|5,BUFFER|p.W146*|c.438G>A|4,BUFFER|p.W53*|c.159G>A|5,BUFFER|p.W146*|c.438G>A|34,BUFFER|p.W146*|c.438G>A|3,BUFFER|p.W14*|c.42G>A|5,BUFFER|p.W14*|c.41G>A|9,BUFFER|p.W146*|c.437G>A|3,BUFFER|p.W146*|c.437G>A|9,BUFFER|p.W53*|c.158G>A|9,BUFFER|p.W146*|c.437G>A|7,BUFFER|p.W146*|c.437G>A|9,BUFFER|p.W146*|c.437G>A|43,BUFFER|p.W146R|c.436T>C|4,BUFFER|p.L145L|c.435G>A|3,BUFFER|p.L145R|c.434T>G|7,BUFFER|p.L145P|c.434T>C|17,BUFFER|p.L145Q|c.434T>A|19,BUFFER|p.L145L|c.433C>T|4,BUFFER|p.V11A|c.32T>C|4,BUFFER|p.V143E|c.428T>A|6,BUFFER|p.V143A|c.428T>C|3,BUFFER|p.V143A|c.428T>C|4,BUFFER|p.V143A|c.428T>C|16,BUFFER|p.V50A|c.149T>C|4,BUFFER|p.V143M|c.427G>A|4,BUFFER|p.V143L|c.427G>T|3,BUFFER|p.V143M|c.427G>A|3,BUFFER|p.V143M|c.427G>A|22,BUFFER|p.V11M|c.31G>A|4,BUFFER|p.V50M|c.148G>A|4,BUFFER|p.V143M|c.427G>A|4,BUFFER|p.P142H|c.425C>A|3,BUFFER|p.P142L|c.425C>T|8,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C141W|c.423C>G|13,BUFFER|p.C141*|c.423C>A|12,BUFFER|p.C48W|c.144C>G|3,BUFFER|p.C141C|c.423C>T|4,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C9W|c.27C>G|4,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|13,BUFFER|p.C48Y|c.143G>A|13,BUFFER|p.C141F|c.422G>T|4,BUFFER|p.C9Y|c.26G>A|13,BUFFER|p.C141Y|c.422G>A|78,BUFFER|p.C141Y|c.422G>A|12,BUFFER|p.C48R|c.142T>C|8,BUFFER|p.C141G|c.421T>G|3,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.C9R|c.25T>C|8,BUFFER|p.C141R|c.421T>C|22,BUFFER|p.C141R|c.421T>C|6,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.T140T|c.420C>T|6,BUFFER|p.T140I|c.419C>T|11	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs757274881,CM102352,TP53_g.12418C>T,TP53_g.12418C>A,TP53_g.12418del,COSM11245,COSM45825,COSM44285,COSM318146,COSM1640861,COSM1640863,COSM318145,COSM318147,COSM1640865,COSM3820722,COSM2744941,COSM1640862,COSM1640864,COSM318148	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Gln144Ter,ENST00000508793,;TP53,stop_gained,p.Gln144Ter,ENST00000413465,;TP53,stop_gained,p.Gln137Ter,ENST00000604348,;TP53,stop_gained,p.Gln144Ter,ENST00000420246,;TP53,stop_gained,p.Gln144Ter,ENST00000269305,;TP53,stop_gained,p.Gln12Ter,ENST00000509690,;TP53,stop_gained,p.Gln144Ter,ENST00000359597,;TP53,stop_gained,p.Gln51Ter,ENST00000514944,;TP53,stop_gained,p.Gln144Ter,ENST00000445888,;TP53,stop_gained,p.Gln144Ter,ENST00000455263,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	620	79	73	SUCCESS
ASPSCR1	79058	.	GRCh37	17	79937073	79937073	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	42	0	ENST00000306739.4:c.116C>T	p.Thr39Met	p.T39M	ENST00000306739	NM_024083.3	39	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS58611.1	116	MUTECT|MUSE	.	GGACACGTGCC	NONE	.	.	hmmpanther:PTHR23153:SF33,hmmpanther:PTHR23153,Pfam_domain:PF11470,Superfamily_domains:SSF54236	.	.	ENSP00000306625	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000306729	Transcript	.	.	ENSG00000169696	13825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.01)	.	ASPC1_HUMAN	ASPSCR1	HGNC	.	.	UPI000007263D	SNV	ASPSCR1,missense_variant,p.Thr20Met,ENST00000579684,;ASPSCR1,missense_variant,p.Thr36Met,ENST00000581484,;ASPSCR1,missense_variant,p.Thr39Met,ENST00000306739,;ASPSCR1,missense_variant,p.Thr39Met,ENST00000306729,;ASPSCR1,missense_variant,p.Thr39Met,ENST00000581647,;ASPSCR1,5_prime_UTR_variant,,ENST00000582019,;ASPSCR1,intron_variant,,ENST00000580534,;ASPSCR1,missense_variant,p.Thr39Met,ENST00000344865,;ASPSCR1,missense_variant,p.Thr39Met,ENST00000583503,;ASPSCR1,5_prime_UTR_variant,,ENST00000584454,;	213	42	57	SUCCESS
CTIF	9811	.	GRCh37	18	46287893	46287893	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	53	89	0	ENST00000256413.3:c.1204A>G	p.Asn402Asp	p.N402D	ENST00000256413	NM_014772.2	402	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS45864.1	1210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAACTCC	NONE	.	.	hmmpanther:PTHR23254:SF14,hmmpanther:PTHR23254,Pfam_domain:PF02854,Gene3D:1.25.40.180,SMART_domains:SM00543,Superfamily_domains:SSF48371	.	.	ENSP00000372459	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000382998	Transcript	.	.	ENSG00000134030	23925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.1)	.	CTIF_HUMAN	CTIF	HGNC	K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN	.	UPI0000074650	SNV	CTIF,missense_variant,p.Asn404Asp,ENST00000382998,;CTIF,missense_variant,p.Asn402Asp,ENST00000256413,;CTIF,downstream_gene_variant,,ENST00000587752,;CTIF,downstream_gene_variant,,ENST00000587769,;CTIF,non_coding_transcript_exon_variant,,ENST00000587860,;	1467	89	58	SUCCESS
SERPINB2	5055	.	GRCh37	18	61562581	61562581	+	synonymous_variant	Silent	SNP	G	G	A	rs149564761	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	66	77	0	ENST00000299502.4:c.252G>A	p.Gln84=	p.Q84=	ENST00000299502	NM_002575.2	84	caG/caA	0	C:0.0014	.	.	.	.	A	Q	protein_coding	YES	CCDS11989.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGATCCA	NONE	byFrequency|byCluster	.	SMART_domains:SM00093,Pfam_domain:PF00079,hmmpanther:PTHR11461:SF61,hmmpanther:PTHR11461	.	C:0	ENSP00000401645	.	4/9	.	.	.	.	.	.	.	.	rs149564761	4/9	PASS	ENST00000457692	Transcript	.	.	ENSG00000197632	8584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAI2_HUMAN	SERPINB2	HGNC	Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN	.	UPI000002BB06	SNV	SERPINB2,synonymous_variant,p.%3D,ENST00000404622,;SERPINB2,synonymous_variant,p.%3D,ENST00000457692,;SERPINB2,synonymous_variant,p.%3D,ENST00000413956,;SERPINB2,synonymous_variant,p.%3D,ENST00000443281,;SERPINB2,synonymous_variant,p.%3D,ENST00000299502,;SERPINB10,upstream_gene_variant,,ENST00000397996,;SERPINB10,upstream_gene_variant,,ENST00000418725,;SERPINB2,non_coding_transcript_exon_variant,,ENST00000482254,;	585	77	71	SUCCESS
ZNF91	7644	.	GRCh37	19	23543926	23543926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	56	99	0	ENST00000300619.7:c.1855A>G	p.Arg619Gly	p.R619G	ENST00000300619	NM_003430.2	619	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS42541.1	1855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCTTCTTA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	tolerated(0.3)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Arg587Gly,ENST00000397082,;ZNF91,missense_variant,p.Arg619Gly,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	2061	99	121	SUCCESS
ZNF569	148266	.	GRCh37	19	37904229	37904229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	74	97	0	ENST00000316950.6:c.1331G>A	p.Gly444Glu	p.G444E	ENST00000316950	NM_152484.2	444	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS12503.1	1331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF68,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000325018	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000316950	Transcript	.	.	ENSG00000196437	24737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	ZN569_HUMAN	ZNF569	HGNC	Q17RR6_HUMAN	.	UPI0000202203	SNV	ZNF569,missense_variant,p.Gly444Glu,ENST00000316950,;ZNF569,missense_variant,p.Gly444Glu,ENST00000392149,;ZNF569,missense_variant,p.Gly285Glu,ENST00000392150,;ZNF569,downstream_gene_variant,,ENST00000592490,;ZNF569,downstream_gene_variant,,ENST00000448051,;	1889	97	78	SUCCESS
ZNF780A	284323	.	GRCh37	19	40580707	40580707	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs368327296	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	466	113	0	ENST00000340963.5:c.1642C>T	p.Arg548Ter	p.R548*	ENST00000340963		548	Cga/Tga	0	A:0.0002	.	.	.	.	A	R/*	protein_coding	YES	CCDS46079.1	1645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGATGTT	SITE|p.R549*|c.1645C>T|3,SITE|p.R514*|c.1540C>T|3	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF124,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	A:0	ENSP00000400997	.	6/6	.	.	.	.	.	.	.	.	rs368327296,COSM996576,COSM1393762	6/6	PASS	ENST00000455521	Transcript	.	.	ENSG00000197782	27603	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	Z780A_HUMAN	ZNF780A	HGNC	.	.	UPI0001881B53	SNV	ZNF780A,stop_gained,p.Arg549Ter,ENST00000594395,;ZNF780A,stop_gained,p.Arg548Ter,ENST00000340963,;ZNF780A,stop_gained,p.Arg514Ter,ENST00000450241,;ZNF780A,stop_gained,p.Arg548Ter,ENST00000595687,;ZNF780A,stop_gained,p.Arg549Ter,ENST00000455521,;ZNF780A,intron_variant,,ENST00000414720,;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000599972,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;ZNF780A,downstream_gene_variant,,ENST00000599368,;	1793	113	572	SUCCESS
ETHE1	23474	.	GRCh37	19	44031347	44031347	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	32	47	0	ENST00000292147.2:c.-18G>A		p.*6*	ENST00000292147	NM_014297.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12622.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCAGGAA	NONE	.	.	.	.	.	ENSP00000292147	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000292147	Transcript	1	.	ENSG00000105755	23287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETHE1_HUMAN	ETHE1	HGNC	B2RCZ7_HUMAN	.	UPI0000073C7C	SNV	ETHE1,5_prime_UTR_variant,,ENST00000292147,;ETHE1,5_prime_UTR_variant,,ENST00000600651,;ZNF575,intron_variant,,ENST00000458714,;ETHE1,5_prime_UTR_variant,,ENST00000594342,;ETHE1,5_prime_UTR_variant,,ENST00000598330,;ETHE1,non_coding_transcript_exon_variant,,ENST00000595115,;ETHE1,upstream_gene_variant,,ENST00000602138,;	50	47	35	SUCCESS
BCL2L12	83596	.	GRCh37	19	50169057	50169057	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	39	50	0	ENST00000246785.3:c.-24T>C		p.*8*	ENST00000246785	NM_138639.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59409.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTTTGGG	NONE	.	.	.	.	.	ENSP00000471896	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000601291	Transcript	.	.	ENSG00000126456	6118	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRF3_HUMAN	IRF3	HGNC	Q71U93_HUMAN,M0R205_HUMAN,M0R0X9_HUMAN,M0R0R8_HUMAN,M0R007_HUMAN,M0QYX3_HUMAN,M0QXC8_HUMAN	.	UPI000013CBFE	SNV	IRF3,5_prime_UTR_variant,,ENST00000598808,;IRF3,5_prime_UTR_variant,,ENST00000593337,;IRF3,5_prime_UTR_variant,,ENST00000601809,;BCL2L12,5_prime_UTR_variant,,ENST00000246785,;IRF3,5_prime_UTR_variant,,ENST00000600453,;IRF3,5_prime_UTR_variant,,ENST00000601291,;IRF3,5_prime_UTR_variant,,ENST00000593818,;IRF3,5_prime_UTR_variant,,ENST00000597198,;IRF3,5_prime_UTR_variant,,ENST00000377139,;BCL2L12,5_prime_UTR_variant,,ENST00000441864,;IRF3,upstream_gene_variant,,ENST00000596756,;IRF3,upstream_gene_variant,,ENST00000596765,;IRF3,upstream_gene_variant,,ENST00000600022,;IRF3,upstream_gene_variant,,ENST00000599144,;IRF3,upstream_gene_variant,,ENST00000442265,;IRF3,upstream_gene_variant,,ENST00000600911,;BCL2L12,upstream_gene_variant,,ENST00000598306,;IRF3,upstream_gene_variant,,ENST00000596822,;IRF3,upstream_gene_variant,,ENST00000593922,;IRF3,upstream_gene_variant,,ENST00000309877,;IRF3,upstream_gene_variant,,ENST00000377135,;BCL2L12,upstream_gene_variant,,ENST00000594157,;BCL2L12,upstream_gene_variant,,ENST00000600947,;IRF3,upstream_gene_variant,,ENST00000599223,;IRF3,upstream_gene_variant,,ENST00000601373,;IRF3,upstream_gene_variant,,ENST00000595034,;BCL2L12,upstream_gene_variant,,ENST00000246784,;IRF3,upstream_gene_variant,,ENST00000598108,;IRF3,upstream_gene_variant,,ENST00000599680,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,upstream_gene_variant,,ENST00000597180,;IRF3,5_prime_UTR_variant,,ENST00000597636,;IRF3,upstream_gene_variant,,ENST00000597369,;IRF3,upstream_gene_variant,,ENST00000596788,;BCL2L12,upstream_gene_variant,,ENST00000598979,;IRF3,upstream_gene_variant,,ENST00000594387,;BCL2L12,upstream_gene_variant,,ENST00000601168,;IRF3,upstream_gene_variant,,ENST00000595240,;IRF3,upstream_gene_variant,,ENST00000596644,;	3	50	39	SUCCESS
NTNG1	22854	.	GRCh37	1	107937924	107937924	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	62	96	0	ENST00000370068.1:c.1036A>G	p.Ile346Val	p.I346V	ENST00000370068		346	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS44180.1	1036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCATCCCC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00180	.	.	ENSP00000359085	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000370068	Transcript	.	.	ENSG00000162631	23319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.09)	.	NTNG1_HUMAN	NTNG1	HGNC	Q5IEC8_HUMAN	.	UPI0000458A3E	SNV	NTNG1,missense_variant,p.Ile346Val,ENST00000370074,;NTNG1,missense_variant,p.Ile346Val,ENST00000370070,;NTNG1,missense_variant,p.Ile346Val,ENST00000370071,;NTNG1,missense_variant,p.Ile346Val,ENST00000370072,;NTNG1,missense_variant,p.Ile346Val,ENST00000370067,;NTNG1,missense_variant,p.Ile346Val,ENST00000370073,;NTNG1,missense_variant,p.Ile346Val,ENST00000370061,;NTNG1,missense_variant,p.Ile346Val,ENST00000542803,;NTNG1,missense_variant,p.Ile346Val,ENST00000370068,;NTNG1,missense_variant,p.Ile346Val,ENST00000370066,;NTNG1,missense_variant,p.Ile346Val,ENST00000370065,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	1882	96	145	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	78	1	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	79	84	SUCCESS
VPS13D	55187	.	GRCh37	1	12368658	12368658	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753375836	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	94	120	0	ENST00000358136.3:c.6610C>T	p.Pro2204Ser	p.P2204S	ENST00000358136	NM_015378.2	2204	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS30588.1	6610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCCTTGT	NONE	byFrequency	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	27/70	.	.	.	.	.	.	.	.	rs753375836	27/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,missense_variant,p.Pro2204Ser,ENST00000358136,;VPS13D,missense_variant,p.Pro1027Ser,ENST00000011700,;VPS13D,missense_variant,p.Pro2204Ser,ENST00000356315,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,upstream_gene_variant,,ENST00000487188,;	6740	120	193	SUCCESS
TARS2	80222	.	GRCh37	1	150471453	150471453	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	47	62	0	ENST00000369064.3:c.1482G>A	p.Leu494=	p.L494=	ENST00000369064	NM_025150.4	494	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS952.1	1482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGTCCAC	NONE	.	.	PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451:SF13,hmmpanther:PTHR11451,TIGRFAM_domain:TIGR00418,Pfam_domain:PF00587,Gene3D:3.30.930.10,Superfamily_domains:SSF55681	.	.	ENSP00000358060	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000369064	Transcript	.	.	ENSG00000143374	30740	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTM_HUMAN	TARS2	HGNC	Q9H045_HUMAN	.	UPI00000492D1	SNV	TARS2,synonymous_variant,p.%3D,ENST00000369054,;TARS2,synonymous_variant,p.%3D,ENST00000369064,;TARS2,synonymous_variant,p.%3D,ENST00000606933,;TARS2,3_prime_UTR_variant,,ENST00000438568,;TARS2,non_coding_transcript_exon_variant,,ENST00000463555,;TARS2,non_coding_transcript_exon_variant,,ENST00000480070,;TARS2,3_prime_UTR_variant,,ENST00000467982,;TARS2,3_prime_UTR_variant,,ENST00000369051,;TARS2,downstream_gene_variant,,ENST00000462578,;TARS2,downstream_gene_variant,,ENST00000460794,;	1516	62	100	SUCCESS
IL6R	3570	.	GRCh37	1	154422417	154422417	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	66	58	0	ENST00000368485.3:c.1027A>G	p.Ile343Val	p.I343V	ENST00000368485	NM_000565.3	343	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1067.1	1027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATATTCTC	NONE	.	.	hmmpanther:PTHR23036:SF81,hmmpanther:PTHR23036	.	.	ENSP00000357470	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000368485	Transcript	.	.	ENSG00000160712	6019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.49)	.	IL6RA_HUMAN	IL6R	HGNC	A0N0L5_HUMAN	.	UPI00000358BA	SNV	IL6R,missense_variant,p.Ile343Val,ENST00000368485,;IL6R,missense_variant,p.Ile343Val,ENST00000344086,;IL6R,missense_variant,p.Ile146Val,ENST00000515190,;IL6R,missense_variant,p.Ile282Val,ENST00000476006,;IL6R,non_coding_transcript_exon_variant,,ENST00000507256,;IL6R,upstream_gene_variant,,ENST00000502679,;	1464	58	137	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576368	158576368	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768348063	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	61	92	0	ENST00000361284.1:c.140T>C	p.Ile47Thr	p.I47T	ENST00000361284	NM_001004478.1	47	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS30901.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCATAGCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	rs768348063	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Ile47Thr,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	140	92	153	SUCCESS
RGS4	5999	.	GRCh37	1	163044190	163044190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	90	96	0	ENST00000367909.6:c.458A>G	p.Gln153Arg	p.Q153R	ENST00000367909	NM_005613.5	153	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS44270.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCAGAAGA	NONE	.	.	Prints_domain:PR01301,Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,Gene3D:1.10.167.10,hmmpanther:PTHR10845:SF40,hmmpanther:PTHR10845,PROSITE_profiles:PS50132	.	.	ENSP00000397181	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,missense_variant,p.Gln153Arg,ENST00000367909,;RGS4,missense_variant,p.Gln135Arg,ENST00000528938,;RGS4,missense_variant,p.Gln135Arg,ENST00000367906,;RGS4,missense_variant,p.Gln250Arg,ENST00000421743,;RGS4,missense_variant,p.Gln135Arg,ENST00000527809,;RGS4,3_prime_UTR_variant,,ENST00000367908,;RGS4,intron_variant,,ENST00000531057,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,downstream_gene_variant,,ENST00000533019,;RGS4,downstream_gene_variant,,ENST00000527393,;	909	96	173	SUCCESS
DUSP27	0	.	GRCh37	1	167064149	167064149	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372564326	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	156	204	0	ENST00000361200.2:c.63C>A	p.Asn21Lys	p.N21K	ENST00000361200		21	aaC/aaA	0	A:0.0002	.	.	.	.	A	N/K	protein_coding	YES	CCDS30932.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACGTGAG	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000354483	.	2/6	.	.	.	.	.	.	.	.	rs372564326	2/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.09)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Asn21Lys,ENST00000361200,;DUSP27,missense_variant,p.Asn21Lys,ENST00000443333,;DUSP27,missense_variant,p.Asn21Lys,ENST00000271385,;GPA33,upstream_gene_variant,,ENST00000367868,;GPA33,upstream_gene_variant,,ENST00000534512,;	229	204	332	SUCCESS
MIA3	375056	.	GRCh37	1	222801064	222801064	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs757199141	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	158	206	0	ENST00000344922.5:c.502A>T	p.Asn168Tyr	p.N168Y	ENST00000344922	NM_198551.2	168	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS41470.1	502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAACCCT	NONE	.	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	.	ENSP00000340900	.	4/28	.	.	.	.	.	.	.	.	rs757199141	4/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	deleterious(0.01)	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,missense_variant,p.Asn168Tyr,ENST00000344922,;MIA3,missense_variant,p.Asn168Tyr,ENST00000344507,;MIA3,missense_variant,p.Asn168Tyr,ENST00000344441,;MIA3,upstream_gene_variant,,ENST00000354906,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	527	206	332	SUCCESS
DNAH14	127602	.	GRCh37	1	225533932	225533932	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	93	176	0	ENST00000445597.2:c.8259A>G	p.Gln2753=	p.Q2753=	ENST00000445597		2753	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	.	.	8259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAAGAACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676	.	.	ENSP00000409472	.	48/61	.	.	.	.	.	.	.	.	.	48/61	PASS	ENST00000445597	Transcript	.	.	ENSG00000185842	2945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0001642868	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000445597,;DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;DNAH14,synonymous_variant,p.%3D,ENST00000327794,;	8259	176	195	SUCCESS
SLC9A1	6548	.	GRCh37	1	27434282	27434282	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1197316075	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	48	71	0	ENST00000263980.3:c.1139A>G	p.Lys380Arg	p.K380R	ENST00000263980	NM_003047.4	380	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS295.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATTTGATG	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000263980	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000263980	Transcript	.	.	ENSG00000090020	11071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	tolerated(0.14)	.	SL9A1_HUMAN	SLC9A1	HGNC	B4DTZ6_HUMAN,B1ALD5_HUMAN	.	UPI000012FD1B	SNV	SLC9A1,missense_variant,p.Lys380Arg,ENST00000263980,;SLC9A1,missense_variant,p.Lys41Arg,ENST00000545949,;SLC9A1,missense_variant,p.Lys380Arg,ENST00000374086,;SLC9A1,upstream_gene_variant,,ENST00000374089,;SLC9A1,upstream_gene_variant,,ENST00000447808,;	1715	71	95	SUCCESS
NFYC	4802	.	GRCh37	1	41228577	41228577	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	61	98	1	ENST00000308733.5:c.579G>T	p.Met193Ile	p.M193I	ENST00000308733		193	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS44120.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATGCAGGT	NONE	.	.	hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8	.	.	ENSP00000396620	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000425457	Transcript	.	.	ENSG00000066136	7806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.795)	.	tolerated(0.32)	.	NFYC_HUMAN	NFYC	HGNC	Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN	.	UPI0000D4DA2D	SNV	NFYC,missense_variant,p.Met193Ile,ENST00000456393,;NFYC,missense_variant,p.Met193Ile,ENST00000372652,;NFYC,missense_variant,p.Met193Ile,ENST00000372651,;NFYC,missense_variant,p.Met193Ile,ENST00000425457,;NFYC,missense_variant,p.Met193Ile,ENST00000447388,;NFYC,missense_variant,p.Met193Ile,ENST00000372669,;NFYC,missense_variant,p.Met155Ile,ENST00000427410,;NFYC,missense_variant,p.Met76Ile,ENST00000414185,;NFYC,missense_variant,p.Met161Ile,ENST00000416859,;NFYC,missense_variant,p.Met193Ile,ENST00000440226,;NFYC,missense_variant,p.Met193Ile,ENST00000308733,;NFYC,missense_variant,p.Met193Ile,ENST00000372654,;NFYC,intron_variant,,ENST00000372653,;NFYC,downstream_gene_variant,,ENST00000525290,;NFYC,upstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000525349,;NFYC,non_coding_transcript_exon_variant,,ENST00000424419,;NFYC,downstream_gene_variant,,ENST00000467203,;	739	99	122	SUCCESS
SIRPB1	10326	.	GRCh37	20	1551722	1551722	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	75	110	0	ENST00000381605.4:c.813C>T	p.Thr271=	p.T271=	ENST00000381605	NM_006065.3	271	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13019.1	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGGTGAC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,SMART_domains:SM00409,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	.	.	ENSP00000371018	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000381605	Transcript	.	.	ENSG00000101307	15928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIRB1_HUMAN	SIRPB1	HGNC	.	.	UPI000036700F	SNV	SIRPB1,synonymous_variant,p.%3D,ENST00000381605,;SIRPB1,synonymous_variant,p.%3D,ENST00000565076,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,intron_variant,,ENST00000567028,;SIRPB1,intron_variant,,ENST00000262929,;SIRPB1,intron_variant,,ENST00000563840,;SIRPB1,intron_variant,,ENST00000381603,;SIRPB1,intron_variant,,ENST00000569629,;	878	110	241	SUCCESS
BPIFA3	128861	.	GRCh37	20	31814800	31814800	+	splice_donor_variant	Splice_Site	SNP	G	G	C	rs777729789	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	33	62	0	ENST00000375454.3:c.685+1G>C		p.X229_splice	ENST00000375454	NM_178466.3	229		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13216.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGTGAGT	NONE	.	.	.	.	.	ENSP00000364603	.	.	.	.	.	.	.	.	.	.	rs777729789	.	PASS	ENST00000375454	Transcript	.	.	ENSG00000131059	16204	.	.	HIGH	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIA3_HUMAN	BPIFA3	HGNC	.	.	UPI00003E72D6	SNV	BPIFA3,splice_donor_variant,,ENST00000375454,;BPIFA3,splice_donor_variant,,ENST00000375452,;BPIFA3,splice_donor_variant,,ENST00000471233,;BPIFA3,splice_donor_variant,,ENST00000490499,;	.	62	126	SUCCESS
PREX1	57580	.	GRCh37	20	47273593	47273593	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	48	0	ENST00000371941.3:c.2108C>G	p.Ala703Gly	p.A703G	ENST00000371941	NM_020820.3	703	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS13410.1	2108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGCCACC	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000361009	.	18/40	.	.	.	.	.	.	.	.	.	18/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.07)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Ala703Gly,ENST00000396220,;PREX1,missense_variant,p.Ala703Gly,ENST00000371941,;PREX1,missense_variant,p.Ala25Gly,ENST00000482556,;	2131	48	93	SUCCESS
SLC23A2	9962	.	GRCh37	20	4865396	4865396	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs1000125151	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	48	68	0	ENST00000338244.1:c.642+3A>G		p.X214_splice	ENST00000338244	NM_005116.5	214		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13085.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTACCTC	NONE	.	.	.	.	.	ENSP00000368637	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379333	Transcript	.	.	ENSG00000089057	10973	.	.	LOW	8/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S23A2_HUMAN	SLC23A2	HGNC	Q4ZGM1_HUMAN	.	UPI0000136292	SNV	SLC23A2,splice_region_variant,,ENST00000379333,;SLC23A2,splice_region_variant,,ENST00000338244,;SLC23A2,intron_variant,,ENST00000423430,;SLC23A2,intron_variant,,ENST00000424750,;snoU13,downstream_gene_variant,,ENST00000516249,;SLC23A2,splice_region_variant,,ENST00000496331,;SLC23A2,splice_region_variant,,ENST00000468355,;	.	68	157	SUCCESS
LAMA5	3911	.	GRCh37	20	60907730	60907730	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1007032446	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	46	75	0	ENST00000252999.3:c.3326A>G	p.Tyr1109Cys	p.Y1109C	ENST00000252999	NM_005560.4	1109	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33502.1	3326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCATAGCGG	NONE	.	.	hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574	.	.	ENSP00000252999	.	27/80	.	.	.	.	.	.	.	.	.	27/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Tyr1109Cys,ENST00000252999,;MIR4758,upstream_gene_variant,,ENST00000577688,;LAMA5,downstream_gene_variant,,ENST00000474128,;	3393	75	139	SUCCESS
SIM2	6493	.	GRCh37	21	38098595	38098595	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs962246418	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	42	0	ENST00000290399.6:c.719T>C	p.Leu240Pro	p.L240P	ENST00000290399	NM_005069.3	240	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS13646.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTGAAGC	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR23043:SF19,hmmpanther:PTHR23043,Gene3D:3.30.450.20,SMART_domains:SM00091,Superfamily_domains:SSF55785	.	.	ENSP00000290399	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,missense_variant,p.Leu178Pro,ENST00000431229,;SIM2,missense_variant,p.Leu240Pro,ENST00000430056,;SIM2,missense_variant,p.Leu240Pro,ENST00000290399,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	1332	42	57	SUCCESS
PRDM15	63977	.	GRCh37	21	43299446	43299446	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755068109	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	23	0	ENST00000269844.3:c.35C>T	p.Ala12Val	p.A12V	ENST00000269844	NM_022115.3	12	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13676.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGCAGCA	NONE	.	.	.	.	.	ENSP00000269844	.	1/31	.	.	.	.	.	.	.	.	rs755068109	1/31	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	deleterious_low_confidence(0)	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,missense_variant,p.Ala12Val,ENST00000269844,;PRDM15,missense_variant,p.Ala12Val,ENST00000422911,;PRDM15,missense_variant,p.Ala12Val,ENST00000398548,;PRDM15,5_prime_UTR_variant,,ENST00000538201,;SNORA3,upstream_gene_variant,,ENST00000515969,;AP001619.2,upstream_gene_variant,,ENST00000432411,;PRDM15,missense_variant,p.Ala12Val,ENST00000433067,;PRDM15,missense_variant,p.Ala12Val,ENST00000449395,;PRDM15,5_prime_UTR_variant,,ENST00000441787,;	146	23	27	SUCCESS
ATF4	468	.	GRCh37	22	39917506	39917506	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	78	143	0	ENST00000337304.2:c.56C>T	p.Pro19Leu	p.P19L	ENST00000337304	NM_001675.2	19	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13996.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCCTTCG	NONE	.	.	hmmpanther:PTHR13044:SF2,hmmpanther:PTHR13044	.	.	ENSP00000336790	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000337304	Transcript	.	.	ENSG00000128272	786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	ATF4_HUMAN	ATF4	HGNC	Q96AQ3_HUMAN,B4DJD4_HUMAN	.	UPI000000DABF	SNV	ATF4,missense_variant,p.Pro19Leu,ENST00000396680,;ATF4,missense_variant,p.Pro19Leu,ENST00000337304,;ATF4,missense_variant,p.Pro19Leu,ENST00000404241,;MIEF1,downstream_gene_variant,,ENST00000325301,;	938	143	147	SUCCESS
TTN	7273	.	GRCh37	2	179644675	179644675	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	42	48	0	ENST00000591111.1:c.3729+52T>A		p.*1243*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAGGAAA	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	22/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000360870,;TTN,intron_variant,,ENST00000460472,;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;	.	48	75	SUCCESS
MSGN1	343930	.	GRCh37	2	17998293	17998293	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	91	156	0	ENST00000281047.3:c.508T>C	p.Tyr170His	p.Y170H	ENST00000281047	NM_001105569.1	170	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS42657.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTACACC	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF4,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000281047	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000281047	Transcript	.	.	ENSG00000151379	14907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MSGN1_HUMAN	MSGN1	HGNC	.	.	UPI00001D7580	SNV	MSGN1,missense_variant,p.Tyr170His,ENST00000281047,;	531	156	185	SUCCESS
GPR1	2825	.	GRCh37	2	207041479	207041479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	59	77	0	ENST00000407325.2:c.493G>A	p.Ala165Thr	p.A165T	ENST00000407325	NM_001098199.1	165	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2368.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCCAAAA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24229:SF4,hmmpanther:PTHR24229,PROSITE_profiles:PS50262	.	.	ENSP00000384345	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000407325	Transcript	.	.	ENSG00000183671	4463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	GPR1_HUMAN	GPR1	HGNC	C9JSU0_HUMAN,C9JQB7_HUMAN,C9JKF3_HUMAN,C9JFR8_HUMAN,C9JCK1_HUMAN,C9J456_HUMAN	.	UPI000013C9FB	SNV	GPR1,missense_variant,p.Ala165Thr,ENST00000407325,;GPR1,missense_variant,p.Ala165Thr,ENST00000442134,;GPR1,missense_variant,p.Ala165Thr,ENST00000451790,;GPR1,missense_variant,p.Ala165Thr,ENST00000437420,;GPR1,downstream_gene_variant,,ENST00000439932,;GPR1,downstream_gene_variant,,ENST00000458440,;GPR1,downstream_gene_variant,,ENST00000447845,;GPR1,downstream_gene_variant,,ENST00000411719,;	856	78	123	SUCCESS
FAM134A	0	.	GRCh37	2	220043283	220043283	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1194375778	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	34	0	ENST00000430297.2:c.209C>T	p.Ala70Val	p.A70V	ENST00000430297	NM_024293.4	70	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2434.1	209	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCGGCGCAGC	NONE	.	.	.	.	.	ENSP00000395249	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000430297	Transcript	.	.	ENSG00000144567	28450	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.55)	.	F134A_HUMAN	FAM134A	HGNC	C9JIF3_HUMAN,C9J3K5_HUMAN	.	UPI000013D996	SNV	FAM134A,missense_variant,p.Ala70Val,ENST00000430297,;FAM134A,intron_variant,,ENST00000443757,;FAM134A,intron_variant,,ENST00000458520,;CNPPD1,upstream_gene_variant,,ENST00000451647,;CNPPD1,upstream_gene_variant,,ENST00000360507,;FAM134A,upstream_gene_variant,,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000409789,;FAM134A,upstream_gene_variant,,ENST00000420189,;FAM134A,upstream_gene_variant,,ENST00000430747,;CNPPD1,upstream_gene_variant,,ENST00000453038,;FAM134A,missense_variant,p.Ala70Val,ENST00000452293,;FAM134A,missense_variant,p.Ala70Val,ENST00000273048,;FAM134A,upstream_gene_variant,,ENST00000481925,;FAM134A,upstream_gene_variant,,ENST00000465672,;	345	35	51	SUCCESS
SPEG	10290	.	GRCh37	2	220326770	220326770	+	synonymous_variant	Silent	SNP	C	C	A	rs969309838	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	48	77	0	ENST00000312358.7:c.2607C>A	p.Pro869=	p.P869=	ENST00000312358	NM_005876.4	869	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42824.1	2607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCCACCTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	7/41	.	.	.	.	.	.	.	.	.	7/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,synonymous_variant,p.%3D,ENST00000396695,;SPEG,synonymous_variant,p.%3D,ENST00000396688,;SPEG,synonymous_variant,p.%3D,ENST00000396686,;SPEG,synonymous_variant,p.%3D,ENST00000396689,;SPEG,synonymous_variant,p.%3D,ENST00000396698,;SPEG,synonymous_variant,p.%3D,ENST00000312358,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000496786,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000463218,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,non_coding_transcript_exon_variant,,ENST00000475921,;	2739	77	91	SUCCESS
COLEC11	78989	.	GRCh37	2	3691387	3691387	+	synonymous_variant	Silent	SNP	C	C	T	rs545129835	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	69	121	0	ENST00000349077.4:c.495C>T	p.Asp165=	p.D165=	ENST00000349077	NM_024027.4	165	gaC/gaT	0	.	G:0	.	G:0	.	T	D	protein_coding	YES	CCDS58689.1	537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGACGCCCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF14,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	G:0	.	ENSP00000411770	G:0	8/8	.	.	.	.	.	.	.	.	rs545129835	8/8	common_in_exac	ENST00000418971	Transcript	.	G:0.0002	ENSG00000118004	17213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	COL11_HUMAN	COLEC11	HGNC	C9JWT5_HUMAN	.	UPI0001AE7699	SNV	COLEC11,synonymous_variant,p.%3D,ENST00000382062,;COLEC11,synonymous_variant,p.%3D,ENST00000402922,;COLEC11,synonymous_variant,p.%3D,ENST00000403096,;COLEC11,synonymous_variant,p.%3D,ENST00000402794,;COLEC11,synonymous_variant,p.%3D,ENST00000349077,;COLEC11,synonymous_variant,p.%3D,ENST00000404205,;COLEC11,synonymous_variant,p.%3D,ENST00000236693,;COLEC11,synonymous_variant,p.%3D,ENST00000418971,;COLEC11,downstream_gene_variant,,ENST00000438814,;COLEC11,non_coding_transcript_exon_variant,,ENST00000487365,;COLEC11,non_coding_transcript_exon_variant,,ENST00000460971,;COLEC11,3_prime_UTR_variant,,ENST00000416132,;	748	121	149	SUCCESS
PREPL	9581	.	GRCh37	2	44586867	44586867	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	48	0	ENST00000260648.6:c.-13G>T		p.*5*	ENST00000260648	NM_006036.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33190.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAGTCCCTGGT	NONE	.	.	.	.	.	ENSP00000386543	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000409936	Transcript	.	.	ENSG00000138078	30228	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPCEL_HUMAN	PREPL	HGNC	C9JMT4_HUMAN	.	UPI0000208358	SNV	PREPL,5_prime_UTR_variant,,ENST00000260648,;PREPL,5_prime_UTR_variant,,ENST00000410081,;PREPL,5_prime_UTR_variant,,ENST00000378511,;PREPL,5_prime_UTR_variant,,ENST00000378520,;PREPL,5_prime_UTR_variant,,ENST00000409936,;PREPL,5_prime_UTR_variant,,ENST00000409272,;PREPL,5_prime_UTR_variant,,ENST00000438314,;PREPL,intron_variant,,ENST00000409957,;PREPL,intron_variant,,ENST00000541738,;PREPL,intron_variant,,ENST00000409411,;CAMKMT,upstream_gene_variant,,ENST00000407131,;CAMKMT,upstream_gene_variant,,ENST00000378494,;CAMKMT,upstream_gene_variant,,ENST00000403853,;CAMKMT,upstream_gene_variant,,ENST00000402247,;PREPL,intron_variant,,ENST00000477410,;PREPL,intron_variant,,ENST00000540817,;PREPL,5_prime_UTR_variant,,ENST00000426481,;PREPL,5_prime_UTR_variant,,ENST00000425263,;CAMKMT,upstream_gene_variant,,ENST00000454433,;	426	48	76	SUCCESS
WDR92	0	.	GRCh37	2	68384452	68384452	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	45	81	0	ENST00000295121.6:c.124G>A	p.Gly42Ser	p.G42S	ENST00000295121	NM_138458.3	42	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1884.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCCCGTG	NONE	.	.	hmmpanther:PTHR10971:SF2,hmmpanther:PTHR10971,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000295121	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000295121	Transcript	.	.	ENSG00000243667	25176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.18)	.	WDR92_HUMAN	WDR92	HGNC	Q8ND98_HUMAN,Q86YQ0_HUMAN	.	UPI000006F50D	SNV	WDR92,missense_variant,p.Gly42Ser,ENST00000409164,;WDR92,missense_variant,p.Gly42Ser,ENST00000295121,;WDR92,intron_variant,,ENST00000406245,;PNO1,upstream_gene_variant,,ENST00000263657,;WDR92,intron_variant,,ENST00000492039,;RP11-474G23.1,3_prime_UTR_variant,,ENST00000406334,;WDR92,non_coding_transcript_exon_variant,,ENST00000468984,;PNO1,upstream_gene_variant,,ENST00000430742,;	241	81	91	SUCCESS
MXD1	4084	.	GRCh37	2	70142443	70142460	+	5_prime_UTR_variant	5'UTR	DEL	GCTCCGGCCCCCGGTGCA	GCTCCGGCCCCCGGTGCA	-	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	GCTCCGGCCCCCGGTGCA	GCTCCGGCCCCCGGTGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	137	67	212	0	ENST00000264444.2:c.-19_-2del		p.*7*	ENST00000264444	NM_001202513.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1896.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGTGGCTCCGGCCCCCGGTGCAGAATG	NONE	.	.	.	.	.	ENSP00000264444	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000264444	Transcript	.	.	ENSG00000059728	6761	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAD1_HUMAN	MXD1	HGNC	C9JBE8_HUMAN,B7ZLI7_HUMAN	.	UPI0000035C7D	deletion	MXD1,5_prime_UTR_variant,,ENST00000264444,;MXD1,5_prime_UTR_variant,,ENST00000540449,;MXD1,intron_variant,,ENST00000435990,;snoU13,downstream_gene_variant,,ENST00000458983,;MXD1,5_prime_UTR_variant,,ENST00000409442,;MXD1,non_coding_transcript_exon_variant,,ENST00000410000,;	241-258	212	204	SUCCESS
MORC1	27136	.	GRCh37	3	108698449	108698449	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	53	91	0	ENST00000232603.5:c.2390G>A	p.Ser797Asn	p.S797N	ENST00000232603	NM_014429.3	797	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS2955.1	2390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACTCACA	NONE	.	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	.	.	ENSP00000232603	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000232603	Transcript	.	.	ENSG00000114487	7198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.35)	.	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,missense_variant,p.Ser776Asn,ENST00000483760,;MORC1,missense_variant,p.Ser797Asn,ENST00000232603,;	2473	91	124	SUCCESS
CD200R1	131450	.	GRCh37	3	112647737	112647737	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	73	98	0	ENST00000471858.1:c.626A>T	p.His209Leu	p.H209L	ENST00000471858	NM_170780.2	209	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS2969.1	695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTGGACC	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF08205,hmmpanther:PTHR21462:SF2,hmmpanther:PTHR21462,PROSITE_profiles:PS50835	.	.	ENSP00000311035	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000308611	Transcript	.	.	ENSG00000163606	24235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.5)	.	MO2R1_HUMAN	CD200R1	HGNC	.	.	UPI000013E2BD	SNV	CD200R1,missense_variant,p.His187Leu,ENST00000295863,;CD200R1,missense_variant,p.His232Leu,ENST00000308611,;CD200R1,missense_variant,p.His209Leu,ENST00000471858,;CD200R1,downstream_gene_variant,,ENST00000440122,;CD200R1,downstream_gene_variant,,ENST00000490004,;	960	98	135	SUCCESS
TMEM39A	55254	.	GRCh37	3	119176876	119176878	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	88	58	110	0	ENST00000319172.5:c.323_325del	p.Ser108del	p.S108del	ENST00000319172	NM_018266.2	108	tCTTgt/tgt	0	.	.	.	.	.	-	SC/C	protein_coding	YES	CCDS2987.1	323-325	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGTACAAGAAGCA	NONE	.	.	hmmpanther:PTHR12995:SF3,hmmpanther:PTHR12995,Pfam_domain:PF10271	.	.	ENSP00000326063	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000319172	Transcript	.	.	ENSG00000176142	25600	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM39A_HUMAN	TMEM39A	HGNC	C9JYN8_HUMAN,C9JUZ6_HUMAN,C9IYN1_HUMAN	.	UPI00000715E5	deletion	TMEM39A,inframe_deletion,p.Ser108del,ENST00000319172,;TMEM39A,inframe_deletion,p.Ser108del,ENST00000461654,;TMEM39A,inframe_deletion,p.Ser108del,ENST00000468676,;TMEM39A,inframe_deletion,p.Ser108del,ENST00000497993,;TMEM39A,intron_variant,,ENST00000491685,;TMEM39A,non_coding_transcript_exon_variant,,ENST00000482162,;TMEM39A,non_coding_transcript_exon_variant,,ENST00000486159,;TMEM39A,inframe_deletion,p.Ser108del,ENST00000438581,;TMEM39A,3_prime_UTR_variant,,ENST00000490099,;TMEM39A,non_coding_transcript_exon_variant,,ENST00000486235,;	744-746	110	146	SUCCESS
STXBP5L	9515	.	GRCh37	3	120998775	120998775	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	70	106	0	ENST00000273666.6:c.2082T>A	p.Ser694=	p.S694=	ENST00000273666	NM_014980.2	694	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS43137.1	2082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCTCCTCG	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19	.	.	ENSP00000273666	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000273666	Transcript	.	.	ENSG00000145087	30757	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STB5L_HUMAN	STXBP5L	HGNC	C9JUZ7_HUMAN	.	UPI00001C1DEA	SNV	STXBP5L,synonymous_variant,p.%3D,ENST00000471262,;STXBP5L,synonymous_variant,p.%3D,ENST00000472879,;STXBP5L,synonymous_variant,p.%3D,ENST00000273666,;STXBP5L,synonymous_variant,p.%3D,ENST00000471454,;STXBP5L,synonymous_variant,p.%3D,ENST00000492541,;STXBP5L,synonymous_variant,p.%3D,ENST00000497029,;	2353	106	139	SUCCESS
ATP2C1	27032	.	GRCh37	3	130686043	130686043	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	103	142	0	ENST00000428331.2:c.1177G>T	p.Val393Phe	p.V393F	ENST00000428331	NM_014382.3	393	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS56278.1	1279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGTTCAT	NONE	.	.	Pfam_domain:PF00702,TIGRFAM_domain:TIGR01522,Gene3D:1.20.1110.10,hmmpanther:PTHR24093:SF214,hmmpanther:PTHR24093	.	.	ENSP00000376914	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000393221	Transcript	.	.	ENSG00000017260	13211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	tolerated(0.06)	.	AT2C1_HUMAN	ATP2C1	HGNC	D6RGE9_HUMAN,D6R9U9_HUMAN	.	UPI0000EE224C	SNV	ATP2C1,missense_variant,p.Val393Phe,ENST00000328560,;ATP2C1,missense_variant,p.Val393Phe,ENST00000508532,;ATP2C1,missense_variant,p.Val393Phe,ENST00000359644,;ATP2C1,missense_variant,p.Val377Phe,ENST00000504948,;ATP2C1,missense_variant,p.Val377Phe,ENST00000507488,;ATP2C1,missense_variant,p.Val388Phe,ENST00000533801,;ATP2C1,missense_variant,p.Val377Phe,ENST00000505330,;ATP2C1,missense_variant,p.Val347Phe,ENST00000504612,;ATP2C1,missense_variant,p.Val427Phe,ENST00000393221,;ATP2C1,missense_variant,p.Val393Phe,ENST00000422190,;ATP2C1,missense_variant,p.Val377Phe,ENST00000513801,;ATP2C1,missense_variant,p.Val393Phe,ENST00000428331,;ATP2C1,missense_variant,p.Val338Phe,ENST00000504381,;ATP2C1,missense_variant,p.Val393Phe,ENST00000510168,;ATP2C1,upstream_gene_variant,,ENST00000508660,;ATP2C1,downstream_gene_variant,,ENST00000515854,;ATP2C1,missense_variant,p.Val80Phe,ENST00000504571,;ATP2C1,non_coding_transcript_exon_variant,,ENST00000514654,;	1494	142	211	SUCCESS
STAG1	10274	.	GRCh37	3	136060292	136060292	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	43	0	ENST00000383202.2:c.3548G>C	p.Arg1183Thr	p.R1183T	ENST00000383202	NM_005862.2	1183	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS3090.1	3548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCCTCACT	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6	.	.	ENSP00000372689	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000383202	Transcript	.	.	ENSG00000118007	11354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious_low_confidence(0.02)	.	STAG1_HUMAN	STAG1	HGNC	Q4LE48_HUMAN	.	UPI000020A2DE	SNV	STAG1,missense_variant,p.Arg767Thr,ENST00000536929,;STAG1,missense_variant,p.Arg923Thr,ENST00000434713,;STAG1,missense_variant,p.Arg1183Thr,ENST00000383202,;STAG1,intron_variant,,ENST00000236698,;PCCB,downstream_gene_variant,,ENST00000478469,;PCCB,downstream_gene_variant,,ENST00000471595,;STAG1,3_prime_UTR_variant,,ENST00000483235,;	3805	43	69	SUCCESS
ZBTB38	253461	.	GRCh37	3	141161744	141161744	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1478249888	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	69	97	0	ENST00000321464.5:c.517G>A	p.Glu173Lys	p.E173K	ENST00000321464		173	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43157.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGAAACA	NONE	.	.	hmmpanther:PTHR24397:SF23,hmmpanther:PTHR24397	.	.	ENSP00000426387	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000514251	Transcript	.	.	ENSG00000177311	26636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZBT38_HUMAN	ZBTB38	HGNC	Q9H6F0_HUMAN,D6RJE1_HUMAN,D6RHD1_HUMAN,D6RGK1_HUMAN,D6RE69_HUMAN,D6RC86_HUMAN,D6RBC4_HUMAN,D6RAC4_HUMAN,D6R9U6_HUMAN,D6R9J6_HUMAN,D6R9I1_HUMAN,B3KST1_HUMAN	.	UPI000020A364	SNV	ZBTB38,missense_variant,p.Glu172Lys,ENST00000441582,;ZBTB38,missense_variant,p.Glu173Lys,ENST00000321464,;ZBTB38,missense_variant,p.Glu172Lys,ENST00000509883,;ZBTB38,missense_variant,p.Glu172Lys,ENST00000514251,;ZBTB38,missense_variant,p.Glu172Lys,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000509842,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	793	97	136	SUCCESS
AGTR1	185	.	GRCh37	3	148459155	148459155	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	51	0	ENST00000349243.3:c.333C>G	p.Asn111Lys	p.N111K	ENST00000349243	NM_000685.4	111	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS3137.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACCTGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228:SF23,hmmpanther:PTHR24228,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000443186	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000542281	Transcript	.	.	ENSG00000144891	336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AGTR1_HUMAN	AGTR1	HGNC	Q53YY0_HUMAN,D3DNG8_HUMAN	.	UPI0000039D66	SNV	AGTR1,missense_variant,p.Asn111Lys,ENST00000404754,;AGTR1,missense_variant,p.Asn111Lys,ENST00000461609,;AGTR1,missense_variant,p.Asn111Lys,ENST00000542281,;AGTR1,missense_variant,p.Asn111Lys,ENST00000418473,;AGTR1,missense_variant,p.Asn111Lys,ENST00000474935,;AGTR1,missense_variant,p.Asn111Lys,ENST00000402260,;AGTR1,missense_variant,p.Asn111Lys,ENST00000475347,;AGTR1,missense_variant,p.Asn111Lys,ENST00000497524,;AGTR1,missense_variant,p.Asn111Lys,ENST00000349243,;	779	51	64	SUCCESS
CP	1356	.	GRCh37	3	148905856	148905856	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	69	0	ENST00000264613.6:c.1847A>G	p.Glu616Gly	p.E616G	ENST00000264613	NM_000096.3	616	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS3141.1	1847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATTCCTGA	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0)	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,missense_variant,p.Glu616Gly,ENST00000264613,;CP,missense_variant,p.Glu399Gly,ENST00000494544,;CP,non_coding_transcript_exon_variant,,ENST00000462336,;CP,missense_variant,p.Glu616Gly,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000471356,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000497797,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;CP,non_coding_transcript_exon_variant,,ENST00000497902,;	2110	69	76	SUCCESS
IGSF10	285313	.	GRCh37	3	151171320	151171320	+	synonymous_variant	Silent	SNP	G	G	A	rs754580450	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	85	155	0	ENST00000282466.3:c.567C>T	p.Phe189=	p.F189=	ENST00000282466	NM_178822.4	189	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS3160.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGGAACTT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000282466	.	3/6	.	.	.	.	.	.	.	.	rs754580450	3/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,synonymous_variant,p.%3D,ENST00000282466,;	567	155	212	SUCCESS
ABCF3	55324	.	GRCh37	3	183907511	183907511	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	56	41	0	ENST00000429586.2:c.1280A>G	p.Tyr427Cys	p.Y427C	ENST00000429586	NM_018358.2	427	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3254.1	1280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATATGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19211:SF45,hmmpanther:PTHR19211,Pfam_domain:PF12848,Gene3D:3.40.50.300	.	.	ENSP00000411471	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000429586	Transcript	.	.	ENSG00000161204	72	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCF3_HUMAN	ABCF3	HGNC	.	.	UPI000007270D	SNV	ABCF3,missense_variant,p.Tyr421Cys,ENST00000292808,;ABCF3,missense_variant,p.Tyr427Cys,ENST00000429586,;EIF2B5,intron_variant,,ENST00000444495,;ABCF3,non_coding_transcript_exon_variant,,ENST00000473311,;ABCF3,non_coding_transcript_exon_variant,,ENST00000468892,;ABCF3,non_coding_transcript_exon_variant,,ENST00000472608,;ABCF3,non_coding_transcript_exon_variant,,ENST00000471226,;ABCF3,non_coding_transcript_exon_variant,,ENST00000489719,;ABCF3,upstream_gene_variant,,ENST00000480539,;ABCF3,downstream_gene_variant,,ENST00000481116,;ABCF3,upstream_gene_variant,,ENST00000480562,;ABCF3,downstream_gene_variant,,ENST00000466416,;ABCF3,downstream_gene_variant,,ENST00000478288,;ABCF3,downstream_gene_variant,,ENST00000463685,;ABCF3,downstream_gene_variant,,ENST00000485921,;ABCF3,downstream_gene_variant,,ENST00000475728,;ABCF3,downstream_gene_variant,,ENST00000498136,;ABCF3,downstream_gene_variant,,ENST00000421340,;ABCF3,upstream_gene_variant,,ENST00000466742,;	1465	41	85	SUCCESS
VPRBP	0	.	GRCh37	3	51505011	51505011	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782457344	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	61	0	ENST00000335891.5:c.121T>A	p.Leu41Met	p.L41M	ENST00000335891		41	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	.	.	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAATTGAG	NONE	.	.	hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4	.	.	ENSP00000421724	.	3/8	.	.	.	.	.	.	.	.	rs782457344	3/8	PASS	ENST00000504652	Transcript	.	.	ENSG00000145041	30911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	deleterious(0.01)	.	.	VPRBP	HGNC	D6RAK9_HUMAN	.	UPI000020AC4F	SNV	VPRBP,missense_variant,p.Leu41Met,ENST00000504652,;VPRBP,missense_variant,p.Leu41Met,ENST00000335891,;	251	61	104	SUCCESS
CADPS	8618	.	GRCh37	3	62467427	62467427	+	synonymous_variant	Silent	SNP	C	C	T	rs368961255	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	67	152	0	ENST00000383710.4:c.3144G>A	p.Pro1048=	p.P1048=	ENST00000383710	NM_003716.3	1048	ccG/ccA	0	T:0.0003	.	.	.	.	T	P	protein_coding	YES	CCDS46858.1	3144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACGGTGC	CODON|p.P1048L|c.3143C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166,PROSITE_profiles:PS51258	.	T:0	ENSP00000373215	.	22/30	.	.	.	.	.	.	.	.	rs368961255	22/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,synonymous_variant,p.%3D,ENST00000383710,;CADPS,synonymous_variant,p.%3D,ENST00000473635,;CADPS,intron_variant,,ENST00000357948,;CADPS,intron_variant,,ENST00000283269,;CADPS,upstream_gene_variant,,ENST00000466621,;CADPS,intron_variant,,ENST00000463002,;CADPS,intron_variant,,ENST00000478570,;CADPS,upstream_gene_variant,,ENST00000478408,;	3494	152	176	SUCCESS
OR5H2	79310	.	GRCh37	3	98001914	98001945	+	frameshift_variant	Frame_Shift_Del	DEL	CATCCCCATGTACTTTTTTCTTGGGAGTTTAG	CATCCCCATGTACTTTTTTCTTGGGAGTTTAG	-	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	CATCCCCATGTACTTTTTTCTTGGGAGTTTAG	CATCCCCATGTACTTTTTTCTTGGGAGTTTAG	.	.	.	.	.	.	.	.	.	.	.	.	.	92	56	136	0	ENST00000355273.2:c.184_215del	p.Ile62LeufsTer3	p.I62Lfs*3	ENST00000355273	NM_001005482.1	61	caCATCCCCATGTACTTTTTTCTTGGGAGTTTAGcc/cacc	0	.	.	.	.	.	-	HIPMYFFLGSLA/HX	protein_coding	YES	CCDS33801.1	183-214	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTCACATCCCCATGTACTTTTTTCTTGGGAGTTTAGCCTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF277,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000347418	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355273	Transcript	.	.	ENSG00000197938	14752	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR5H2_HUMAN	OR5H2	HGNC	.	.	UPI0000041B67	deletion	OR5H2,frameshift_variant,p.Ile62LeufsTer3,ENST00000355273,;RP11-325B23.2,intron_variant,,ENST00000508616,;	183-214	136	148	SUCCESS
CRMP1	1400	.	GRCh37	4	5837703	5837703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	55	98	0	ENST00000397890.2:c.1220C>A	p.Ala407Asp	p.A407D	ENST00000397890	NM_001313.3	407	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33950.1	1562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGGCATCC	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:2.30.40.10,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51338	.	.	ENSP00000321606	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	SNV	CRMP1,missense_variant,p.Ala405Asp,ENST00000512574,;CRMP1,missense_variant,p.Ala521Asp,ENST00000324989,;CRMP1,missense_variant,p.Ala407Asp,ENST00000397890,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	1651	98	118	SUCCESS
PDLIM5	10611	.	GRCh37	4	95539284	95539284	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	101	166	0	ENST00000317968.4:c.1050G>A	p.Lys350=	p.K350=	ENST00000317968	NM_001256428.1	350	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS58916.1	1137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGCCTGT	NONE	.	.	hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF32	.	.	ENSP00000424360	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000514743	Transcript	.	.	ENSG00000163110	17468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDLIM5	HGNC	D6RB78_HUMAN	.	UPI000013E231	SNV	PDLIM5,synonymous_variant,p.%3D,ENST00000317968,;PDLIM5,synonymous_variant,p.%3D,ENST00000437932,;PDLIM5,synonymous_variant,p.%3D,ENST00000503974,;PDLIM5,synonymous_variant,p.%3D,ENST00000514743,;PDLIM5,synonymous_variant,p.%3D,ENST00000542407,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000380176,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000511586,;PDLIM5,synonymous_variant,p.%3D,ENST00000506632,;PDLIM5,3_prime_UTR_variant,,ENST00000509357,;	1181	166	107	SUCCESS
NMUR2	56923	.	GRCh37	5	151784567	151784567	+	synonymous_variant	Silent	SNP	G	G	C	rs1430069487	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	108	122	2	ENST00000255262.3:c.108C>G	p.Leu36=	p.L36=	ENST00000255262	NM_020167.4	36	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4321.1	108	RADIA|SOMATICSNIPER|VARSCANS	.	CCGCAGAGGAA	NONE	.	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Superfamily_domains:SSF81321,Prints_domain:PR01567	.	.	ENSP00000255262	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,synonymous_variant,p.%3D,ENST00000255262,;NMUR2,intron_variant,,ENST00000518933,;	274	124	205	SUCCESS
CDH9	1007	.	GRCh37	5	26988368	26988368	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	47	109	0	ENST00000231021.4:c.73C>T	p.Gln25Ter	p.Q25*	ENST00000231021	NM_016279.3	25	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS3893.1	73	RADIA|MUTECT|MUSE	.	TTCTTGTAATA	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,stop_gained,p.Gln25Ter,ENST00000511822,;CDH9,stop_gained,p.Gln25Ter,ENST00000231021,;CDH9,stop_gained,p.Gln25Ter,ENST00000513289,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	246	109	218	SUCCESS
HMGCS1	3157	.	GRCh37	5	43298839	43298839	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	284	189	142	0	ENST00000325110.6:c.229del	p.Met77TrpfsTer28	p.M77Wfs*28	ENST00000325110	NM_001098272.2	77	Atg/tg	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS34154.1	229	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCCATAAGAT	NONE	.	.	hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,TIGRFAM_domain:TIGR01833,Pfam_domain:PF01154,Gene3D:3.40.47.10,Superfamily_domains:SSF53901	.	.	ENSP00000322706	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000325110	Transcript	.	.	ENSG00000112972	5007	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HMCS1_HUMAN	HMGCS1	HGNC	Q8N995_HUMAN,D6RIW1_HUMAN	.	UPI000012C9BC	deletion	HMGCS1,frameshift_variant,p.Met77TrpfsTer28,ENST00000433297,;HMGCS1,frameshift_variant,p.Met77TrpfsTer28,ENST00000325110,;HMGCS1,frameshift_variant,p.Met77TrpfsTer?,ENST00000511774,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507293,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507004,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	436	142	473	SUCCESS
GRIK2	2898	.	GRCh37	6	102503262	102503262	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	49	93	0	ENST00000421544.1:c.2369A>C	p.Lys790Thr	p.K790T	ENST00000421544	NM_021956.4	790	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS5048.1	2369	RADIA|MUTECT|MUSE	.	AGGCAAACTGC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000397026	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.7)	.	tolerated(0.16)	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,missense_variant,p.Lys790Thr,ENST00000369138,;GRIK2,missense_variant,p.Lys790Thr,ENST00000413795,;GRIK2,missense_variant,p.Lys790Thr,ENST00000318991,;GRIK2,missense_variant,p.Lys790Thr,ENST00000421544,;GRIK2,missense_variant,p.Lys741Thr,ENST00000369134,;GRIK2,missense_variant,p.Lys714Thr,ENST00000369137,;	2859	93	131	SUCCESS
GRIK2	2898	.	GRCh37	6	102503268	102503268	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	92	0	ENST00000421544.1:c.2375A>G	p.His792Arg	p.H792R	ENST00000421544	NM_021956.4	792	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS5048.1	2375	RADIA|MUTECT|MUSE	.	ACTGCATATGA	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000397026	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.864)	.	deleterious(0.01)	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,missense_variant,p.His792Arg,ENST00000369138,;GRIK2,missense_variant,p.His792Arg,ENST00000413795,;GRIK2,missense_variant,p.His792Arg,ENST00000318991,;GRIK2,missense_variant,p.His792Arg,ENST00000421544,;GRIK2,missense_variant,p.His743Arg,ENST00000369134,;GRIK2,missense_variant,p.His716Arg,ENST00000369137,;	2865	92	134	SUCCESS
ADAT2	134637	.	GRCh37	6	143759816	143759816	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	34	56	0	ENST00000237283.8:c.112G>A	p.Glu38Lys	p.E38K	ENST00000237283	NM_182503.2	38	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43511.1	112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCGAGGG	NONE	.	.	Superfamily_domains:SSF53927,Gene3D:3.40.140.10,Pfam_domain:PF00383,hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF47,HAMAP:MF_00972	.	.	ENSP00000237283	.	2/6	.	.	.	.	.	.	.	.	COSM259331	2/6	PASS	ENST00000237283	Transcript	.	.	ENSG00000189007	21172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	tolerated(0.26)	1	ADAT2_HUMAN	ADAT2	HGNC	.	.	UPI00001A3A7E	SNV	ADAT2,missense_variant,p.Glu38Lys,ENST00000237283,;ADAT2,5_prime_UTR_variant,,ENST00000606514,;AL031320.1,intron_variant,,ENST00000595616,;TUBB8P2,downstream_gene_variant,,ENST00000402141,;	127	56	87	SUCCESS
STXBP5	134957	.	GRCh37	6	147694876	147694876	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757798078	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	98	0	ENST00000321680.6:c.3091G>A	p.Gly1031Ser	p.G1031S	ENST00000321680	NM_001127715.2	1031	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS47499.1	3091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGGTGAA	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22	.	.	ENSP00000321826	.	26/28	.	.	.	.	.	.	.	.	rs757798078,COSM1672819,COSM1672818	26/28	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.654)	.	tolerated(0.06)	0,1,1	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,missense_variant,p.Gly1031Ser,ENST00000321680,;STXBP5,missense_variant,p.Gly978Ser,ENST00000367480,;STXBP5,missense_variant,p.Gly686Ser,ENST00000179882,;STXBP5,missense_variant,p.Gly995Ser,ENST00000367481,;	3091	98	107	SUCCESS
OR2J3	442186	.	GRCh37	6	29079833	29079833	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	79	115	0	ENST00000377169.1:c.166T>G	p.Ser56Ala	p.S56A	ENST00000377169	NM_001005216.3	56	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS43433.1	166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTCCCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.26)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Ser56Ala,ENST00000377169,;	166	115	148	SUCCESS
TFEB	7942	.	GRCh37	6	41652806	41652806	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	71	110	0	ENST00000230323.4:c.962T>C	p.Met321Thr	p.M321T	ENST00000230323	NM_007162.2	321	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS4858.1	962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCATCTCC	NONE	.	.	hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF9,Pfam_domain:PF11851	.	.	ENSP00000230323	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000230323	Transcript	.	.	ENSG00000112561	11753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	deleterious(0)	.	TFEB_HUMAN	TFEB	HGNC	Q86WB1_HUMAN,Q709A9_HUMAN,Q709A8_HUMAN,B1AKB4_HUMAN,B1AKB2_HUMAN,B1AKB1_HUMAN,B1AKA9_HUMAN	.	UPI0000001615	SNV	TFEB,missense_variant,p.Met321Thr,ENST00000373033,;TFEB,missense_variant,p.Met321Thr,ENST00000403298,;TFEB,missense_variant,p.Met335Thr,ENST00000358871,;TFEB,missense_variant,p.Met236Thr,ENST00000420312,;TFEB,missense_variant,p.Met179Thr,ENST00000406563,;TFEB,missense_variant,p.Met407Thr,ENST00000343317,;TFEB,missense_variant,p.Met321Thr,ENST00000230323,;TFEB,downstream_gene_variant,,ENST00000416140,;TFEB,downstream_gene_variant,,ENST00000394283,;AL035588.1,upstream_gene_variant,,ENST00000597468,;TFEB,downstream_gene_variant,,ENST00000419396,;TFEB,downstream_gene_variant,,ENST00000419574,;TFEB,downstream_gene_variant,,ENST00000494822,;	1264	110	137	SUCCESS
KMT2E	55904	.	GRCh37	7	104749510	104749510	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	64	117	0	ENST00000257745.4:c.3590A>C	p.Asp1197Ala	p.D1197A	ENST00000257745	NM_018682.3	1197	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS34723.1	3590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGATGGCT	NONE	.	.	hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious_low_confidence(0.01)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Asp9Ala,ENST00000473063,;KMT2E,missense_variant,p.Asp252Ala,ENST00000334914,;KMT2E,missense_variant,p.Asp1197Ala,ENST00000257745,;KMT2E,missense_variant,p.Asp1197Ala,ENST00000311117,;KMT2E,missense_variant,p.Asp1197Ala,ENST00000334877,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,3_prime_UTR_variant,,ENST00000478079,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;	4135	117	139	SUCCESS
KMT2E	55904	.	GRCh37	7	104751284	104751284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	83	156	0	ENST00000257745.4:c.4037A>G	p.Asn1346Ser	p.N1346S	ENST00000257745	NM_018682.3	1346	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34723.1	4037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAATACTT	NONE	.	.	hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious_low_confidence(0.03)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Asn116Ser,ENST00000473063,;KMT2E,missense_variant,p.Asn401Ser,ENST00000334914,;KMT2E,missense_variant,p.Asn1346Ser,ENST00000257745,;KMT2E,missense_variant,p.Asn1346Ser,ENST00000311117,;KMT2E,missense_variant,p.Asn1304Ser,ENST00000334877,;SRPK2,non_coding_transcript_exon_variant,,ENST00000493638,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;KMT2E,downstream_gene_variant,,ENST00000478079,;SRPK2,downstream_gene_variant,,ENST00000465072,;	4582	156	185	SUCCESS
DGKB	1607	.	GRCh37	7	14733789	14733789	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	51	64	0	ENST00000399322.3:c.622T>C	p.Tyr208His	p.Y208H	ENST00000399322	NM_004080.2	208	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS47547.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATAGTCAA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11255:SF32,hmmpanther:PTHR11255,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000385780	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000403951	Transcript	.	.	ENSG00000136267	2850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.04)	.	DGKB_HUMAN	DGKB	HGNC	C9JA18_HUMAN,B7Z3B3_HUMAN	.	UPI0000033B9B	SNV	DGKB,missense_variant,p.Tyr208His,ENST00000258767,;DGKB,missense_variant,p.Tyr201His,ENST00000444700,;DGKB,missense_variant,p.Tyr208His,ENST00000403951,;DGKB,missense_variant,p.Tyr208His,ENST00000402815,;DGKB,missense_variant,p.Tyr201His,ENST00000407950,;DGKB,missense_variant,p.Tyr208His,ENST00000406247,;DGKB,missense_variant,p.Tyr208His,ENST00000399322,;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;DGKB,intron_variant,,ENST00000471732,;DGKB,non_coding_transcript_exon_variant,,ENST00000477401,;DGKB,non_coding_transcript_exon_variant,,ENST00000464065,;	1042	64	104	SUCCESS
PRKAG2	51422	.	GRCh37	7	151573596	151573596	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	45	0	ENST00000287878.4:c.110T>G	p.Ile37Ser	p.I37S	ENST00000287878	NM_016203.3	37	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS5928.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGAATGTGC	NONE	.	.	.	.	.	ENSP00000287878	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000287878	Transcript	.	.	ENSG00000106617	9386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated_low_confidence(0.19)	.	AAKG2_HUMAN	PRKAG2	HGNC	C9JUG1_HUMAN	.	UPI00001250B5	SNV	PRKAG2,missense_variant,p.Ile37Ser,ENST00000287878,;PRKAG2-AS1,upstream_gene_variant,,ENST00000464464,;PRKAG2-AS1,upstream_gene_variant,,ENST00000467458,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000474383,;PRKAG2,missense_variant,p.Ile37Ser,ENST00000488258,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000481434,;	615	45	57	SUCCESS
WBSCR17	0	.	GRCh37	7	71130456	71130456	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758121306	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	48	82	0	ENST00000333538.5:c.1141C>T	p.Arg381Trp	p.R381W	ENST00000333538	NM_022479.2	381	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS5540.1	1141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGCGGAAG	NONE	byFrequency	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448	.	.	ENSP00000329654	.	7/11	.	.	.	.	.	.	.	.	rs758121306	7/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Arg381Trp,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	1775	82	111	SUCCESS
PCLO	27445	.	GRCh37	7	82584355	82584355	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1347294200	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	49	79	0	ENST00000333891.9:c.5914A>G	p.Ser1972Gly	p.S1972G	ENST00000333891	NM_033026.5	1972	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS47630.1	5914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGCCAT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ser1972Gly,ENST00000333891,;PCLO,missense_variant,p.Ser1972Gly,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	6252	79	102	SUCCESS
OXR1	55074	.	GRCh37	8	107371767	107371767	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	39	0	ENST00000445937.1:c.-75T>A		p.*25*	ENST00000445937	NM_018002.3			0	.	.	.	.	.	A	.	protein_coding	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTTTAGCG	NONE	.	.	.	.	.	ENSP00000395032	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000452423	Transcript	.	.	ENSG00000164830	15822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI00004A2871	SNV	OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,5_prime_UTR_variant,,ENST00000517566,;OXR1,5_prime_UTR_variant,,ENST00000445937,;OXR1,5_prime_UTR_variant,,ENST00000531443,;	64	39	56	SUCCESS
ADCY8	114	.	GRCh37	8	131896918	131896918	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	75	102	1	ENST00000286355.5:c.2001T>G	p.Ile667Met	p.I667M	ENST00000286355	NM_001115.2	667	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS6363.1	2001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTAATTTC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF06327	.	.	ENSP00000286355	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Ile667Met,ENST00000286355,;ADCY8,missense_variant,p.Ile667Met,ENST00000377928,;	4094	103	138	SUCCESS
EXOSC4	54512	.	GRCh37	8	145133637	145133637	+	synonymous_variant	Silent	SNP	G	G	A	rs1364994354	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	109	164	1	ENST00000316052.5:c.6G>A	p.Ala2=	p.A2=	ENST00000316052	NM_019037.2	2	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6414.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGGGGCT	NONE	.	.	hmmpanther:PTHR11953,hmmpanther:PTHR11953:SF0	.	.	ENSP00000315476	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000316052	Transcript	.	.	ENSG00000178896	18189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOS4_HUMAN	EXOSC4	HGNC	.	.	UPI0000000C49	SNV	EXOSC4,synonymous_variant,p.%3D,ENST00000525936,;EXOSC4,synonymous_variant,p.%3D,ENST00000316052,;GPAA1,upstream_gene_variant,,ENST00000361036,;GPAA1,upstream_gene_variant,,ENST00000524418,;GPAA1,upstream_gene_variant,,ENST00000525087,;GPAA1,upstream_gene_variant,,ENST00000530258,;GPAA1,upstream_gene_variant,,ENST00000355091,;EXOSC4,upstream_gene_variant,,ENST00000527954,;CTD-3065J16.9,non_coding_transcript_exon_variant,,ENST00000524499,;GPAA1,upstream_gene_variant,,ENST00000527144,;GPAA1,upstream_gene_variant,,ENST00000526341,;GPAA1,upstream_gene_variant,,ENST00000528073,;GPAA1,upstream_gene_variant,,ENST00000530633,;GPAA1,upstream_gene_variant,,ENST00000532758,;GPAA1,upstream_gene_variant,,ENST00000529503,;GPAA1,upstream_gene_variant,,ENST00000525308,;	109	165	209	SUCCESS
ADAM7	8756	.	GRCh37	8	24346811	24346811	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	51	101	0	ENST00000175238.6:c.1231G>T	p.Asp411Tyr	p.D411Y	ENST00000175238	NM_003817.3	411	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS6045.1	1231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGATGAG	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000175238	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000175238	Transcript	.	.	ENSG00000069206	214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ADAM7_HUMAN	ADAM7	HGNC	.	.	UPI000013C5CC	SNV	ADAM7,missense_variant,p.Asp411Tyr,ENST00000175238,;ADAM7,missense_variant,p.Asp183Tyr,ENST00000520720,;ADAM7,missense_variant,p.Asp411Tyr,ENST00000380789,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-561E1.1,downstream_gene_variant,,ENST00000519364,;	1314	101	101	SUCCESS
PPP2R2A	5520	.	GRCh37	8	26149087	26149087	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	21	0	ENST00000380737.3:c.-249G>A		p.*83*	ENST00000380737	NM_002717.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCGCTGTC	NONE	.	1645	.	.	.	ENSP00000325074	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315985	Transcript	.	.	ENSG00000221914	9304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2ABA_HUMAN	PPP2R2A	HGNC	E5RFR9_HUMAN	.	UPI0000E219EC	SNV	PPP2R2A,5_prime_UTR_variant,,ENST00000524169,;PPP2R2A,5_prime_UTR_variant,,ENST00000380737,;PPP2R2A,upstream_gene_variant,,ENST00000522535,;PPP2R2A,upstream_gene_variant,,ENST00000521557,;PPP2R2A,upstream_gene_variant,,ENST00000523925,;PPP2R2A,upstream_gene_variant,,ENST00000315985,;PPP2R2A,upstream_gene_variant,,ENST00000522150,;PPP2R2A,upstream_gene_variant,,ENST00000523473,;PPP2R2A,upstream_gene_variant,,ENST00000522482,;PPP2R2A,upstream_gene_variant,,ENST00000519636,;PPP2R2A,upstream_gene_variant,,ENST00000524099,;PPP2R2A,upstream_gene_variant,,ENST00000521095,;PPP2R2A,5_prime_UTR_variant,,ENST00000518254,;PPP2R2A,5_prime_UTR_variant,,ENST00000520329,;PPP2R2A,upstream_gene_variant,,ENST00000521484,;PPP2R2A,upstream_gene_variant,,ENST00000519439,;PPP2R2A,upstream_gene_variant,,ENST00000518397,;	.	21	24	SUCCESS
MBOAT4	619373	.	GRCh37	8	29996075	29996075	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	119	209	0	ENST00000320542.3:c.317A>G	p.Tyr106Cys	p.Y106C	ENST00000320542	NM_001100916.1	106	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47835.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAATACTCA	NONE	.	.	hmmpanther:PTHR13906:SF3,hmmpanther:PTHR13906	.	.	ENSP00000314196	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000320542	Transcript	.	.	ENSG00000177669	32311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	MBOA4_HUMAN	MBOAT4	HGNC	.	.	UPI000170BA4B	SNV	MBOAT4,missense_variant,p.Tyr106Cys,ENST00000320542,;LEPROTL1,downstream_gene_variant,,ENST00000523116,;LEPROTL1,downstream_gene_variant,,ENST00000442880,;LEPROTL1,intron_variant,,ENST00000520739,;	402	209	289	SUCCESS
TTI2	80185	.	GRCh37	8	33360999	33360999	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	81	0	ENST00000360742.5:c.1207A>G	p.Arg403Gly	p.R403G	ENST00000360742	NM_025115.3	403	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6090.1	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTAGCTT	NONE	.	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1,Superfamily_domains:SSF48371	.	.	ENSP00000411169	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,missense_variant,p.Arg403Gly,ENST00000431156,;TTI2,missense_variant,p.Arg372Gly,ENST00000520636,;TTI2,missense_variant,p.Arg403Gly,ENST00000360742,;MAK16,downstream_gene_variant,,ENST00000360128,;TTI2,non_coding_transcript_exon_variant,,ENST00000519356,;MAK16,downstream_gene_variant,,ENST00000518389,;	1826	81	103	SUCCESS
TMEM55A	0	.	GRCh37	8	92033484	92033484	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs145247675	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	66	0	ENST00000285419.3:c.255G>A		p.X85_splice	ENST00000285419	NM_018710.2	85	acG/acA	0	.	T:0.0023	.	T:0	.	T	T	protein_coding	YES	CCDS6252.1	255	RADIA|MUTECT|MUSE	.	CTTACCGTAGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21014:SF5,hmmpanther:PTHR21014,Pfam_domain:PF09788	T:0	.	ENSP00000285419	T:0	2/7	.	.	.	.	.	.	.	.	rs145247675	2/7	PASS	ENST00000285419	Transcript	.	T:0.0006	ENSG00000155099	25452	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	TM55A_HUMAN	TMEM55A	HGNC	.	.	UPI0000071563	SNV	TMEM55A,synonymous_variant,p.%3D,ENST00000285419,;TMEM55A,synonymous_variant,p.%3D,ENST00000520014,;GS1-251I9.3,downstream_gene_variant,,ENST00000517920,;TMEM55A,synonymous_variant,p.%3D,ENST00000518359,;TMEM55A,splice_region_variant,,ENST00000518869,;TMEM55A,intron_variant,,ENST00000520709,;	570	66	81	SUCCESS
KIAA1429	0	.	GRCh37	8	95531278	95531278	+	synonymous_variant	Silent	SNP	A	A	G	rs1308508461	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	58	0	ENST00000297591.5:c.2448T>C	p.Phe816=	p.F816=	ENST00000297591	NM_015496.4	816	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS34923.1	2448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAAAAAC	NONE	.	.	hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	.	.	ENSP00000297591	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,synonymous_variant,p.%3D,ENST00000297591,;KIAA1429,synonymous_variant,p.%3D,ENST00000421249,;KIAA1429,synonymous_variant,p.%3D,ENST00000437199,;KIAA1429,synonymous_variant,p.%3D,ENST00000522263,;	2524	58	72	SUCCESS
GRIN3A	116443	.	GRCh37	9	104500017	104500017	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	9	0	ENST00000361820.3:c.245A>G	p.Glu82Gly	p.E82G	ENST00000361820	NM_133445.2	82	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS6758.1	245	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGCTCCGGC	NONE	.	.	.	.	.	ENSP00000355155	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.43)	.	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,missense_variant,p.Glu82Gly,ENST00000361820,;	846	9	25	SUCCESS
C5	727	.	GRCh37	9	123716025	123716025	+	synonymous_variant	Silent	SNP	T	T	C	rs1290117730	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	63	97	0	ENST00000223642.1:c.4884A>G	p.Lys1628=	p.K1628=	ENST00000223642	NM_001735.2	1628	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS6826.1	4884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTATTTTAT	NONE	.	.	PROSITE_profiles:PS50189,Pfam_domain:PF01759,SMART_domains:SM00643,Superfamily_domains:SSF50242	.	.	ENSP00000223642	.	40/41	.	.	.	.	.	.	.	.	.	40/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,synonymous_variant,p.%3D,ENST00000223642,;C5,downstream_gene_variant,,ENST00000480188,;	4914	97	145	SUCCESS
ASS1	445	.	GRCh37	9	133355124	133355124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs565520844	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	38	59	0	ENST00000352480.5:c.710A>G	p.Asn237Ser	p.N237S	ENST00000352480	NM_054012.3	237	aAc/aGc	0	.	G:0	.	G:0.0014	.	G	N/S	protein_coding	YES	CCDS6933.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAACGTCA	NONE	by1000G	.	HAMAP:MF_00005,hmmpanther:PTHR11587,hmmpanther:PTHR11587:SF1,Pfam_domain:PF00764,Gene3D:3.90.1260.10,TIGRFAM_domain:TIGR00032,Superfamily_domains:SSF69864	G:0	.	ENSP00000361471	G:0	11/16	.	.	.	.	.	.	.	.	rs565520844	11/16	PASS	ENST00000372394	Transcript	.	G:0.0002	ENSG00000130707	758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	G:0	tolerated(0.24)	.	ASSY_HUMAN	ASS1	HGNC	Q8NFZ7_HUMAN,Q5T6L6_HUMAN,Q5T6L4_HUMAN	.	UPI00000015D6	SNV	ASS1,missense_variant,p.Asn237Ser,ENST00000372394,;ASS1,missense_variant,p.Asn237Ser,ENST00000372393,;ASS1,missense_variant,p.Asn237Ser,ENST00000352480,;ASS1,upstream_gene_variant,,ENST00000372386,;ASS1,non_coding_transcript_exon_variant,,ENST00000492400,;ASS1,non_coding_transcript_exon_variant,,ENST00000467695,;ASS1,non_coding_transcript_exon_variant,,ENST00000470849,;ASS1,intron_variant,,ENST00000493984,;	1191	59	66	SUCCESS
ANAPC2	29882	.	GRCh37	9	140077677	140077677	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	80	0	ENST00000323927.2:c.1186A>T	p.Ile396Phe	p.I396F	ENST00000323927	NM_013366.3	396	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS7033.1	1186	RADIA|MUTECT|MUSE	.	GATGATGTCAC	NONE	.	.	hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Pfam_domain:PF00888	.	.	ENSP00000314004	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000323927	Transcript	.	.	ENSG00000176248	19989	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ANC2_HUMAN	ANAPC2	HGNC	B4DJR9_HUMAN	.	UPI0000043E1B	SNV	ANAPC2,missense_variant,p.Ile396Phe,ENST00000323927,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000495611,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000471131,;ANAPC2,upstream_gene_variant,,ENST00000483432,;	1191	80	105	SUCCESS
CACNA1B	774	.	GRCh37	9	141014753	141014753	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	18	52	0	ENST00000371372.1:c.6167G>A	p.Cys2056Tyr	p.C2056Y	ENST00000371372	NM_001243812.1	2056	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS59522.1	6167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTGCCACC	NONE	.	.	Prints_domain:PR01631,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Low_complexity_(Seg):seg	.	.	ENSP00000360423	.	45/47	.	.	.	.	.	.	.	.	.	45/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(1)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Cys2057Tyr,ENST00000371355,;CACNA1B,missense_variant,p.Cys2055Tyr,ENST00000371357,;CACNA1B,missense_variant,p.Cys1250Tyr,ENST00000277549,;CACNA1B,missense_variant,p.Cys2056Tyr,ENST00000277551,;CACNA1B,missense_variant,p.Cys2054Tyr,ENST00000371363,;CACNA1B,missense_variant,p.Cys2056Tyr,ENST00000371372,;	6312	52	33	SUCCESS
C9orf24	84688	.	GRCh37	9	34397707	34397707	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	23	0	ENST00000297623.2:c.-76G>A		p.*26*	ENST00000297623	NM_032596.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6554.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCTAGAC	NONE	.	.	.	.	.	ENSP00000297623	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000297623	Transcript	.	.	ENSG00000164972	19919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMRP1_HUMAN	C9orf24	HGNC	.	.	UPI000006E5B3	SNV	C9orf24,5_prime_UTR_variant,,ENST00000297623,;FAM219A,downstream_gene_variant,,ENST00000379087,;FAM219A,downstream_gene_variant,,ENST00000379078,;FAM219A,downstream_gene_variant,,ENST00000297620,;FAM219A,downstream_gene_variant,,ENST00000445726,;C9orf24,upstream_gene_variant,,ENST00000444429,;FAM219A,downstream_gene_variant,,ENST00000379080,;FAM219A,downstream_gene_variant,,ENST00000422409,;FAM219A,downstream_gene_variant,,ENST00000379081,;FAM219A,downstream_gene_variant,,ENST00000379089,;FAM219A,downstream_gene_variant,,ENST00000379084,;	124	23	23	SUCCESS
RUSC2	9853	.	GRCh37	9	35560184	35560184	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	23	0	ENST00000361226.3:c.3547C>T	p.Gln1183Ter	p.Q1183*	ENST00000361226	NM_014806.2	1183	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS35008.1	3547	MUTECT|MUSE	.	GTGGGCAGCAG	NONE	.	.	hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14	.	.	ENSP00000393922	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000455600	Transcript	.	.	ENSG00000198853	23625	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RUSC2_HUMAN	RUSC2	HGNC	.	.	UPI00001C1EB0	SNV	RUSC2,stop_gained,p.Gln1183Ter,ENST00000361226,;RUSC2,stop_gained,p.Gln1183Ter,ENST00000455600,;FAM166B,downstream_gene_variant,,ENST00000399742,;FAM166B,downstream_gene_variant,,ENST00000478246,;FAM166B,downstream_gene_variant,,ENST00000480287,;FAM166B,downstream_gene_variant,,ENST00000492890,;FAM166B,downstream_gene_variant,,ENST00000447837,;	4116	23	43	SUCCESS
NXF3	56000	.	GRCh37	X	102337929	102337929	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs755292699	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	41	33	0	ENST00000395065.3:c.691+3A>G		p.X231_splice	ENST00000395065	NM_022052.1	231		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14503.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCATACCTG	NONE	.	.	.	.	.	ENSP00000378504	.	.	.	.	.	.	.	.	.	.	rs755292699	.	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	LOW	7/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,splice_region_variant,,ENST00000425463,;NXF3,splice_region_variant,,ENST00000395065,;NXF3,splice_region_variant,,ENST00000427570,;NXF3,splice_region_variant,,ENST00000425644,;NXF3,splice_region_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000494300,;NXF3,upstream_gene_variant,,ENST00000497850,;NXF3,upstream_gene_variant,,ENST00000468528,;NXF3,upstream_gene_variant,,ENST00000470724,;LL0XNC01-221F2.2,upstream_gene_variant,,ENST00000440243,;	.	33	41	SUCCESS
TLR8	51311	.	GRCh37	X	12938752	12938752	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	17	114	0	ENST00000218032.6:c.1593T>C	p.His531=	p.H531=	ENST00000218032	NM_138636.4	531	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS14152.1	1593	MUTECT|MUSE|VARSCANS	.	CCTCATGTCAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,synonymous_variant,p.%3D,ENST00000311912,;TLR8,synonymous_variant,p.%3D,ENST00000218032,;	1680	114	188	SUCCESS
SLC25A6	293	.	GRCh37	X	1506264	1506264	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	6	96	0	ENST00000381401.5:c.647T>C	p.Ile216Thr	p.I216T	ENST00000381401	NM_001636.3	216	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS14114.1	647	MUTECT|MUSE	.	GCGCGATCATC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF217,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00927	.	.	ENSP00000370808	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000381401	Transcript	.	.	ENSG00000169100	10992	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.325)	.	deleterious(0.02)	.	ADT3_HUMAN	SLC25A6	HGNC	Q6I9V5_HUMAN,Q59EI9_HUMAN,I7HJJ0_HUMAN	.	UPI00000015FE	SNV	SLC25A6,missense_variant,p.Ile216Thr,ENST00000381401,;IL3RA,downstream_gene_variant,,ENST00000381469,;IL3RA,downstream_gene_variant,,ENST00000331035,;SLC25A6,non_coding_transcript_exon_variant,,ENST00000484026,;SLC25A6,non_coding_transcript_exon_variant,,ENST00000475167,;	1362	96	152	SUCCESS
L1CAM	3897	.	GRCh37	X	153135853	153135853	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1387424271	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	15	87	0	ENST00000370060.1:c.796G>A	p.Ala266Thr	p.A266T	ENST00000370060	NM_001278116.1	266	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS14733.1	796	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGCGATGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	tolerated(0.1)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Ala268Thr,ENST00000538883,;L1CAM,missense_variant,p.Ala261Thr,ENST00000370055,;L1CAM,missense_variant,p.Ala261Thr,ENST00000361981,;L1CAM,missense_variant,p.Ala268Thr,ENST00000543994,;L1CAM,missense_variant,p.Ala266Thr,ENST00000370057,;L1CAM,missense_variant,p.Ala266Thr,ENST00000370060,;L1CAM,missense_variant,p.Ala266Thr,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000484652,;L1CAM,downstream_gene_variant,,ENST00000460553,;	986	87	114	SUCCESS
CDKL5	6792	.	GRCh37	X	18602433	18602433	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs797044858	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	92	83	0	ENST00000379989.3:c.514G>A	p.Val172Ile	p.V172I	ENST00000379989	NM_001037343.1	172	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS14186.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACGTTGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF111,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000369325	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	deleterious_low_confidence(0)	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	SNV	CDKL5,missense_variant,p.Val172Ile,ENST00000379989,;CDKL5,missense_variant,p.Val172Ile,ENST00000379996,;	799	83	96	SUCCESS
SHROOM2	357	.	GRCh37	X	9864618	9864618	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	118	110	1	ENST00000380913.3:c.2670G>T	p.Arg890Ser	p.R890S	ENST00000380913	NM_001649.2	890	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS14135.1	2670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGAGCTC	NONE	.	.	hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8	.	.	ENSP00000370299	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000380913	Transcript	.	.	ENSG00000146950	630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	deleterious(0)	.	SHRM2_HUMAN	SHROOM2	HGNC	F5H3B6_HUMAN,C9IZC6_HUMAN	.	UPI0000125D05	SNV	SHROOM2,missense_variant,p.Arg890Ser,ENST00000380913,;SHROOM2,upstream_gene_variant,,ENST00000493668,;	2760	111	129	SUCCESS
EDRF1	26098	.	GRCh37	10	127451995	127451995	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750308187	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	24	0	ENST00000356792.4:c.3671G>T	p.Gly1224Val	p.G1224V	ENST00000356792	NM_001202438.1	1224	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS55733.1	3671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCCAGC	NONE	.	.	hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000	.	.	ENSP00000349244	.	25/25	.	.	.	.	.	.	.	.	rs750308187	25/25	PASS	ENST00000356792	Transcript	.	.	ENSG00000107938	24640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	tolerated(0.2)	.	EDRF1_HUMAN	EDRF1	HGNC	.	.	UPI00005CA2E3	SNV	EDRF1,missense_variant,p.Gly1224Val,ENST00000356792,;EDRF1,missense_variant,p.Gly1190Val,ENST00000337623,;MMP21,downstream_gene_variant,,ENST00000368808,;EDRF1,3_prime_UTR_variant,,ENST00000368815,;EDRF1,3_prime_UTR_variant,,ENST00000481600,;EDRF1,3_prime_UTR_variant,,ENST00000419769,;EDRF1,3_prime_UTR_variant,,ENST00000525358,;EDRF1,non_coding_transcript_exon_variant,,ENST00000527655,;EDRF1,non_coding_transcript_exon_variant,,ENST00000368812,;	3903	24	42	SUCCESS
FRMD4A	55691	.	GRCh37	10	13708163	13708190	+	protein_altering_variant	In_Frame_Del	DEL	CATTTTCAATCTCCTGCAGTTTCTTCAG	CATTTTCAATCTCCTGCAGTTTCTTCAG	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	CATTTTCAATCTCCTGCAGTTTCTTCAG	CATTTTCAATCTCCTGCAGTTTCTTCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	77	0	ENST00000357447.2:c.1510_1537delinsA	p.Leu504_Ala513delinsThr	p.L504_A513delinsT	ENST00000357447	NM_018027.3	504	CTGAAGAAACTGCAGGAGATTGAAAATGca/Aca	0	.	.	.	.	.	T	LKKLQEIENA/T	protein_coding	YES	CCDS7101.1	1510-1537	INDELOCATOR*|PINDEL	.	TGATTGCATTTTCAATCTCCTGCAGTTTCTTCAGTGCAT	NONE	.	.	hmmpanther:PTHR23281:SF12,hmmpanther:PTHR23281	.	.	ENSP00000350032	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000357447	Transcript	.	.	ENSG00000151474	25491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRM4A_HUMAN	FRMD4A	HGNC	F8WAN4_HUMAN	.	UPI0000366665	substitution	FRMD4A,protein_altering_variant,p.Leu504_Ala513delinsThr,ENST00000378503,;FRMD4A,protein_altering_variant,p.Leu504_Ala513delinsThr,ENST00000357447,;FRMD4A,protein_altering_variant,p.Leu489_Ala498delinsThr,ENST00000358621,;FRMD4A,downstream_gene_variant,,ENST00000264546,;RP11-295P9.3,intron_variant,,ENST00000593351,;	1879-1906	77	68	SUCCESS
ZC3H12C	85463	.	GRCh37	11	110007241	110007241	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	16	0	ENST00000278590.3:c.22-147T>G		p.*8*	ENST00000278590	NM_033390.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44727.1	.	MUTECT|MUSE	.	TACTCTCTTGG	NONE	.	.	.	.	.	ENSP00000278590	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278590	Transcript	.	.	ENSG00000149289	29362	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZC12C_HUMAN	ZC3H12C	HGNC	E9PP00_HUMAN	.	UPI0000DD80B8	SNV	ZC3H12C,5_prime_UTR_variant,,ENST00000453089,;ZC3H12C,intron_variant,,ENST00000278590,;ZC3H12C,intron_variant,,ENST00000528673,;	.	16	13	SUCCESS
CRY2	1408	.	GRCh37	11	45882443	45882443	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369560580	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	62	0	ENST00000443527.2:c.575G>T	p.Arg192Leu	p.R192L	ENST00000443527	NM_021117.3	192	cGc/cTc	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS7915.2	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCGCTTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11455,hmmpanther:PTHR11455:SF15,Gene3D:1.25.40.80,Pfam_domain:PF00875,Superfamily_domains:SSF52425	.	A:0.0001	ENSP00000406751	.	4/12	.	.	.	.	.	.	.	.	rs369560580	4/12	PASS	ENST00000443527	Transcript	.	.	ENSG00000121671	2385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	deleterious(0.02)	.	.	CRY2	HGNC	B4DZD6_HUMAN,B4DIJ2_HUMAN,A2I2P1_HUMAN	.	UPI000174F724	SNV	CRY2,missense_variant,p.Arg110Leu,ENST00000417225,;CRY2,missense_variant,p.Arg192Leu,ENST00000443527,;CRY2,splice_region_variant,,ENST00000532390,;CRY2,non_coding_transcript_exon_variant,,ENST00000533779,;CRY2,intron_variant,,ENST00000473199,;CRY2,downstream_gene_variant,,ENST00000496571,;CRY2,upstream_gene_variant,,ENST00000525110,;CRY2,upstream_gene_variant,,ENST00000495237,;	597	62	83	SUCCESS
C11orf80	79703	.	GRCh37	11	66563768	66563768	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	73	124	0	ENST00000525908.1:c.503G>A	p.Arg168Lys	p.R168K	ENST00000525908		168	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS53664.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGAACCT	NONE	.	.	hmmpanther:PTHR14652	.	.	ENSP00000354227	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000360962	Transcript	.	.	ENSG00000173715	26197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	tolerated(0.09)	.	CK080_HUMAN	C11orf80	HGNC	E9PIE7_HUMAN	.	UPI0001711D28	SNV	C11orf80,missense_variant,p.Arg217Lys,ENST00000360962,;C11orf80,missense_variant,p.Arg43Lys,ENST00000532089,;C11orf80,missense_variant,p.Arg62Lys,ENST00000525449,;C11orf80,missense_variant,p.Arg168Lys,ENST00000525908,;C11orf80,missense_variant,p.Arg51Lys,ENST00000540737,;C11orf80,missense_variant,p.Arg62Lys,ENST00000346672,;C11orf80,5_prime_UTR_variant,,ENST00000524551,;C11orf80,5_prime_UTR_variant,,ENST00000532565,;C11orf80,5_prime_UTR_variant,,ENST00000527634,;C11orf80,non_coding_transcript_exon_variant,,ENST00000527368,;C11orf80,missense_variant,p.Arg43Lys,ENST00000526260,;C11orf80,3_prime_UTR_variant,,ENST00000532727,;C11orf80,non_coding_transcript_exon_variant,,ENST00000527352,;C11orf80,intron_variant,,ENST00000531400,;	657	124	178	SUCCESS
GRM5	2915	.	GRCh37	11	88781136	88781136	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs202154418	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	20	0	ENST00000305447.4:c.-96C>T		p.*32*	ENST00000305447	NM_001143831.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS44694.1	.	MUTECT|MUSE	.	GAGTCGCAAAT	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000402912	A:0	2/10	.	.	.	.	.	.	.	.	rs202154418	2/10	PASS	ENST00000418177	Transcript	.	A:0.0002	ENSG00000168959	4597	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,5_prime_UTR_variant,,ENST00000305447,;GRM5,5_prime_UTR_variant,,ENST00000305432,;GRM5,5_prime_UTR_variant,,ENST00000418177,;GRM5,5_prime_UTR_variant,,ENST00000455756,;GRM5,5_prime_UTR_variant,,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;GRM5,upstream_gene_variant,,ENST00000393297,;	273	20	35	SUCCESS
ENDOD1	23052	.	GRCh37	11	94823356	94823356	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781803507	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	50	0	ENST00000278505.4:c.265G>T	p.Gly89Cys	p.G89C	ENST00000278505	NM_015036.2	89	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS41699.1	265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF54060,SMART_domains:SM00892,SMART_domains:SM00477,Pfam_domain:PF01223,Gene3D:1g8tA00,hmmpanther:PTHR21472:SF8,hmmpanther:PTHR21472	.	.	ENSP00000278505	.	1/2	.	.	.	.	.	.	.	.	rs781803507	1/2	PASS	ENST00000278505	Transcript	.	.	ENSG00000149218	29129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0.05)	.	ENDD1_HUMAN	ENDOD1	HGNC	.	.	UPI0000071599	SNV	ENDOD1,missense_variant,p.Gly89Cys,ENST00000278505,;	383	50	85	SUCCESS
SCARB1	949	.	GRCh37	12	125299539	125299539	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	73	0	ENST00000415380.2:c.406A>C	p.Met136Leu	p.M136L	ENST00000415380		136	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS9259.1	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATGACGA	NONE	.	.	hmmpanther:PTHR11923:SF49,hmmpanther:PTHR11923,Pfam_domain:PF01130	.	.	ENSP00000261693	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000261693	Transcript	.	.	ENSG00000073060	1664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.51)	.	SCRB1_HUMAN	SCARB1	HGNC	.	.	UPI000014CE1C	SNV	SCARB1,missense_variant,p.Met99Leu,ENST00000540495,;SCARB1,missense_variant,p.Met136Leu,ENST00000339570,;SCARB1,missense_variant,p.Met82Leu,ENST00000544327,;SCARB1,missense_variant,p.Met136Leu,ENST00000546215,;SCARB1,missense_variant,p.Met136Leu,ENST00000545493,;SCARB1,missense_variant,p.Met95Leu,ENST00000541205,;SCARB1,missense_variant,p.Met136Leu,ENST00000415380,;SCARB1,missense_variant,p.Met136Leu,ENST00000261693,;SCARB1,intron_variant,,ENST00000376788,;SCARB1,non_coding_transcript_exon_variant,,ENST00000541661,;SCARB1,non_coding_transcript_exon_variant,,ENST00000535005,;SCARB1,non_coding_transcript_exon_variant,,ENST00000539320,;SCARB1,non_coding_transcript_exon_variant,,ENST00000538291,;	533	74	93	SUCCESS
CCDC168	643677	.	GRCh37	13	103382043	103382043	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs889152133	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	108	187	0	ENST00000322527.2:c.7117G>A	p.Asp2373Asn	p.D2373N	ENST00000322527	NM_001146197.1	2373	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	.	7117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATCGTCAT	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.5)	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,missense_variant,p.Asp2373Asn,ENST00000322527,;	7117	187	234	SUCCESS
WDR25	79446	.	GRCh37	14	100995511	100995511	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1566951669	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	84	0	ENST00000335290.6:c.1379G>A	p.Arg460Gln	p.R460Q	ENST00000335290	NM_024515.4	460	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS32157.1	1379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCGGATGA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF14,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000334148	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000335290	Transcript	.	.	ENSG00000176473	21064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.06)	.	WDR25_HUMAN	WDR25	HGNC	G3V2K8_HUMAN	.	UPI0000D4CFD0	SNV	WDR25,missense_variant,p.Arg460Gln,ENST00000335290,;WDR25,missense_variant,p.Arg203Gln,ENST00000542471,;WDR25,missense_variant,p.Arg68Gln,ENST00000555201,;WDR25,missense_variant,p.Arg460Gln,ENST00000402312,;WDR25,missense_variant,p.Arg460Gln,ENST00000554998,;WDR25,non_coding_transcript_exon_variant,,ENST00000557502,;WDR25,non_coding_transcript_exon_variant,,ENST00000555775,;WDR25,non_coding_transcript_exon_variant,,ENST00000555865,;WDR25,downstream_gene_variant,,ENST00000554492,;WDR25,3_prime_UTR_variant,,ENST00000557710,;	1605	84	82	SUCCESS
HECTD1	25831	.	GRCh37	14	31642418	31642418	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	72	157	0	ENST00000399332.1:c.1100T>C	p.Ile367Thr	p.I367T	ENST00000399332	NM_015382.2	367	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS41939.1	1100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTATAAGC	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50297	.	.	ENSP00000382269	.	6/43	.	.	.	.	.	.	.	.	.	6/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Ile367Thr,ENST00000399332,;HECTD1,missense_variant,p.Ile367Thr,ENST00000553700,;HECTD1,missense_variant,p.Ile367Thr,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000553957,;HECTD1,non_coding_transcript_exon_variant,,ENST00000554471,;HECTD1,downstream_gene_variant,,ENST00000553616,;	1589	157	195	SUCCESS
ABHD12B	145447	.	GRCh37	14	51352570	51352570	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	59	116	0	ENST00000337334.2:c.619G>A	p.Gly207Ser	p.G207S	ENST00000337334	NM_001206673.1	207	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS55916.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGGCATC	NONE	.	.	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF32,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000336693	.	7/13	.	.	.	.	.	.	.	.	COSM553129	7/13	PASS	ENST00000337334	Transcript	.	.	ENSG00000131969	19837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.917)	.	deleterious(0.01)	1	AB12B_HUMAN	ABHD12B	HGNC	.	.	UPI00001ADDF5	SNV	ABHD12B,missense_variant,p.Gly207Ser,ENST00000337334,;ABHD12B,missense_variant,p.Gly100Ser,ENST00000395752,;ABHD12B,missense_variant,p.Gly130Ser,ENST00000353130,;PYGL,intron_variant,,ENST00000532462,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000555292,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000554241,;ABHD12B,3_prime_UTR_variant,,ENST00000382029,;ABHD12B,intron_variant,,ENST00000557345,;	634	116	149	SUCCESS
CYFIP1	23191	.	GRCh37	15	22960851	22960851	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	61	0	ENST00000313077.7:c.2044T>A	p.Phe682Ile	p.F682I	ENST00000313077	NM_014608.2	682	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS10009.1	2044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTTCAAC	NONE	.	.	hmmpanther:PTHR12195:SF2,hmmpanther:PTHR12195,Pfam_domain:PF05994,PIRSF_domain:PIRSF008153	.	.	ENSP00000324549	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000313077	Transcript	.	.	ENSG00000068793	13759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	.	deleterious(0)	.	CYFP1_HUMAN	CYFIP1	HGNC	H0YLJ5_HUMAN,H0YL39_HUMAN	.	UPI0000163A89	SNV	CYFIP1,missense_variant,p.Phe251Ile,ENST00000435939,;CYFIP1,missense_variant,p.Phe682Ile,ENST00000560848,;CYFIP1,missense_variant,p.Phe682Ile,ENST00000313077,;CYFIP1,downstream_gene_variant,,ENST00000557859,;CYFIP1,non_coding_transcript_exon_variant,,ENST00000558826,;CYFIP1,non_coding_transcript_exon_variant,,ENST00000561296,;CYFIP1,downstream_gene_variant,,ENST00000558549,;	2169	61	83	SUCCESS
ABCC6	368	.	GRCh37	16	16244619	16244619	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	101	157	0	ENST00000205557.7:c.4219A>G	p.Lys1407Glu	p.K1407E	ENST00000205557	NM_001171.5	1407	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10568.1	4219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTTCTGGC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,TIGRFAM_domain:TIGR00957,PROSITE_patterns:PS00211,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	.	.	ENSP00000205557	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0)	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,missense_variant,p.Lys1407Glu,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;ABCC6,non_coding_transcript_exon_variant,,ENST00000576204,;	4249	157	124	SUCCESS
AXIN1	8312	.	GRCh37	16	347780	347780	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs754357905	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	17	39	0	ENST00000262320.3:c.1726C>T	p.Arg576Ter	p.R576*	ENST00000262320	NM_003502.3	576	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS10405.1	1726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGGGACC	NONE	.	.	.	.	.	ENSP00000262320	.	6/11	.	.	.	.	.	.	.	.	rs754357905	6/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Arg576Ter,ENST00000262320,;AXIN1,stop_gained,p.Arg576Ter,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	2098	40	24	SUCCESS
MED1	5469	.	GRCh37	17	37566444	37566444	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746684915	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	58	72	0	ENST00000300651.6:c.2030G>A	p.Arg677His	p.R677H	ENST00000300651	NM_004774.3	677	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11336.1	2030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCGGGGT	NONE	.	.	hmmpanther:PTHR12881	.	.	ENSP00000300651	.	17/17	.	.	.	.	.	.	.	.	rs746684915,COSM978590	17/17	PASS	ENST00000300651	Transcript	.	.	ENSG00000125686	9234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.987)	.	deleterious_low_confidence(0)	0,1	MED1_HUMAN	MED1	HGNC	.	.	UPI0000167F57	SNV	MED1,missense_variant,p.Arg677His,ENST00000300651,;MED1,intron_variant,,ENST00000394287,;CTB-131K11.1,downstream_gene_variant,,ENST00000582842,;MED1,3_prime_UTR_variant,,ENST00000577831,;	2254	72	125	SUCCESS
CSH1	1442	.	GRCh37	17	61972737	61972737	+	intron_variant	Intron	SNP	C	C	T	rs758589218	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	67	109	0	ENST00000316193.8:c.456+96G>A		p.*152*	ENST00000316193	NM_001317.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11649.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCGCCTT	NONE	byFrequency	.	.	.	.	ENSP00000316416	.	.	.	.	.	.	.	.	.	.	rs758589218	.	PASS	ENST00000316193	Transcript	.	.	ENSG00000136488	2440	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSH_HUMAN	CSH1	HGNC	Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN	.	UPI0000000C48	SNV	CSH1,synonymous_variant,p.%3D,ENST00000329882,;CSH1,intron_variant,,ENST00000453363,;CSH1,intron_variant,,ENST00000316193,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;	.	109	161	SUCCESS
RNF213	57674	.	GRCh37	17	78327346	78327346	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	59	147	0	ENST00000582970.1:c.10458G>A	p.Glu3486=	p.E3486=	ENST00000582970	NM_001256071.1	3486	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS58606.1	10458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAGGAGGC	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	34/68	.	.	.	.	.	.	.	.	.	34/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,synonymous_variant,p.%3D,ENST00000582970,;RNF213,synonymous_variant,p.%3D,ENST00000336301,;RNF213,synonymous_variant,p.%3D,ENST00000508628,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;CTD-2047H16.4,downstream_gene_variant,,ENST00000572151,;RNF213,upstream_gene_variant,,ENST00000560694,;RNF213,upstream_gene_variant,,ENST00000558116,;	10601	147	147	SUCCESS
CTD-3105H18.14	0	.	GRCh37	19	12494404	12494404	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	47	80	0	ENST00000435033.1:c.101A>G	p.Gln34Arg	p.Q34R	ENST00000435033		34	cAg/cGg	0	.	.	.	.	.	C	Q/R	nonsense_mediated_decay	YES	.	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTGCATC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24379,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000394047	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000435033	Transcript	.	.	ENSG00000268744	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.76)	.	.	CTD-3105H18.14	Clone_based_vega_gene	F2Z351_HUMAN	.	UPI00001CE054	SNV	CTD-3105H18.14,missense_variant,p.Gln34Arg,ENST00000435033,;CTD-3105H18.4,non_coding_transcript_exon_variant,,ENST00000507003,;	305	80	114	SUCCESS
PAK4	10298	.	GRCh37	19	39668341	39668341	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	66	143	0	ENST00000358301.3:c.1512G>T	p.Met504Ile	p.M504I	ENST00000358301	NM_001014832.1	504	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS12528.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATGGTGAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF181,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000469413	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000593690	Transcript	.	.	ENSG00000130669	16059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	deleterious(0)	.	PAK4_HUMAN	PAK4	HGNC	M0R2X4_HUMAN,B4DUG0_HUMAN	.	UPI0000001281	SNV	PAK4,missense_variant,p.Met414Ile,ENST00000321944,;PAK4,missense_variant,p.Met504Ile,ENST00000360442,;PAK4,missense_variant,p.Met504Ile,ENST00000358301,;PAK4,missense_variant,p.Met351Ile,ENST00000599470,;PAK4,missense_variant,p.Met504Ile,ENST00000593690,;PAK4,missense_variant,p.Met62Ile,ENST00000597715,;PAK4,missense_variant,p.Met351Ile,ENST00000599386,;PAK4,missense_variant,p.Met504Ile,ENST00000435673,;PAK4,downstream_gene_variant,,ENST00000602004,;PAK4,downstream_gene_variant,,ENST00000599657,;PAK4,downstream_gene_variant,,ENST00000593480,;PAK4,non_coding_transcript_exon_variant,,ENST00000600350,;	1939	143	202	SUCCESS
ZNF222	7673	.	GRCh37	19	44535978	44535978	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	98	206	0	ENST00000187879.8:c.151A>T	p.Ile51Phe	p.I51F	ENST00000187879	NM_013360.2	51	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS46098.1	271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGATCCAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402:SF163,hmmpanther:PTHR24402	.	.	ENSP00000375822	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391960	Transcript	.	.	ENSG00000159885	13015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	tolerated(0.7)	.	ZN222_HUMAN	ZNF222	HGNC	Q02387_HUMAN	.	UPI000014182E	SNV	ZNF222,missense_variant,p.Ile91Phe,ENST00000391960,;ZNF222,missense_variant,p.Ile51Phe,ENST00000187879,;ZNF222,downstream_gene_variant,,ENST00000587846,;ZNF222,downstream_gene_variant,,ENST00000590160,;ZNF223,intron_variant,,ENST00000591793,;	308	206	336	SUCCESS
ZNF227	7770	.	GRCh37	19	44739013	44739014	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	703	182	375	0	ENST00000313040.7:c.432dup	p.Gln145SerfsTer4	p.Q145Sfs*4	ENST00000313040	NM_182490.1	144	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS12636.1	430-431	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTATTCAG	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	insertion	ZNF227,frameshift_variant,p.Gln94SerfsTer4,ENST00000589005,;ZNF227,frameshift_variant,p.Gln145SerfsTer4,ENST00000313040,;ZNF227,frameshift_variant,p.Gln117SerfsTer4,ENST00000588394,;ZNF227,frameshift_variant,p.Gln94SerfsTer4,ENST00000391961,;ZNF227,frameshift_variant,p.Gln66SerfsTer4,ENST00000588219,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,3_prime_UTR_variant,,ENST00000592844,;	635-636	375	885	SUCCESS
CCDC9	26093	.	GRCh37	19	47768197	47768197	+	synonymous_variant	Silent	SNP	G	G	A	rs201513324	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	35	82	0	ENST00000221922.6:c.714G>A	p.Glu238=	p.E238=	ENST00000221922	NM_015603.2	238	gaG/gaA	0	.	A:0.0015	.	A:0	.	A	E	protein_coding	YES	CCDS12698.1	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGAGCGGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15635:SF11,hmmpanther:PTHR15635,Pfam_domain:PF15266	A:0	.	ENSP00000221922	A:0	7/12	.	.	.	.	.	.	.	.	rs201513324	7/12	PASS	ENST00000221922	Transcript	.	A:0.0004	ENSG00000105321	24560	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CCDC9_HUMAN	CCDC9	HGNC	M0R2W0_HUMAN,M0QZR0_HUMAN,M0QYB4_HUMAN	.	UPI0000073E41	SNV	CCDC9,synonymous_variant,p.%3D,ENST00000221922,;CCDC9,downstream_gene_variant,,ENST00000595659,;CCDC9,downstream_gene_variant,,ENST00000596938,;CCDC9,downstream_gene_variant,,ENST00000599398,;CCDC9,upstream_gene_variant,,ENST00000600117,;	936	82	123	SUCCESS
PPP6R1	22870	.	GRCh37	19	55743523	55743525	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-	rs752714134	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	TCC	TCC	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	30	0	ENST00000412770.2:c.2043_2045del	p.Glu682del	p.E682del	ENST00000412770	NM_014931.3	681	gaGGAa/gaa	0	.	.	.	.	.	-	EE/E	protein_coding	YES	CCDS46186.1	2043-2045	INDELOCATOR|VARSCANI	.	TCGTCTTCCTCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634,Superfamily_domains:SSF48371	.	.	ENSP00000414202	.	18/24	.	.	.	.	.	.	.	.	rs752714134	18/24	PASS	ENST00000412770	Transcript	.	.	ENSG00000105063	29195	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PP6R1_HUMAN	PPP6R1	HGNC	Q96ID3_HUMAN,K7EM28_HUMAN	.	UPI0000202C6D	deletion	PPP6R1,inframe_deletion,p.Glu682del,ENST00000587283,;PPP6R1,inframe_deletion,p.Glu682del,ENST00000412770,;TMEM86B,upstream_gene_variant,,ENST00000327042,;AC010327.2,downstream_gene_variant,,ENST00000598855,;AC010327.1,upstream_gene_variant,,ENST00000581390,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000587457,;TMEM86B,upstream_gene_variant,,ENST00000589190,;PPP6R1,downstream_gene_variant,,ENST00000586690,;TMEM86B,upstream_gene_variant,,ENST00000585416,;TMEM86B,upstream_gene_variant,,ENST00000586923,;	2610-2612	30	79	SUCCESS
ZNF648	127665	.	GRCh37	1	182025619	182025619	+	synonymous_variant	Silent	SNP	G	G	A	rs1380833951	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	120	110	0	ENST00000339948.3:c.1527C>T	p.Cys509=	p.C509=	ENST00000339948	NM_001009992.1	509	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS30952.1	1527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGCACTC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24376:SF1,hmmpanther:PTHR24376,PROSITE_profiles:PS50157	.	.	ENSP00000344129	.	2/2	.	.	.	.	.	.	.	.	COSM3803107	2/2	PASS	ENST00000339948	Transcript	.	.	ENSG00000179930	18190	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN648_HUMAN	ZNF648	HGNC	.	.	UPI0000161414	SNV	ZNF648,synonymous_variant,p.%3D,ENST00000339948,;	1735	110	202	SUCCESS
TP53BP2	7159	.	GRCh37	1	223990152	223990152	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	29	0	ENST00000343537.7:c.997-106C>A		p.*333*	ENST00000343537	NM_001031685.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44319.1	.	MUTECT|MUSE	.	TTTCAGAATCT	NONE	.	.	.	.	.	ENSP00000341957	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	MODIFIER	8/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,intron_variant,,ENST00000391878,;TP53BP2,intron_variant,,ENST00000343537,;TP53BP2,intron_variant,,ENST00000494100,;TP53BP2,upstream_gene_variant,,ENST00000391879,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,intron_variant,,ENST00000489310,;TP53BP2,intron_variant,,ENST00000481128,;TP53BP2,downstream_gene_variant,,ENST00000496282,;TP53BP2,downstream_gene_variant,,ENST00000473135,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000490896,;TP53BP2,intron_variant,,ENST00000464172,;TP53BP2,upstream_gene_variant,,ENST00000483398,;TP53BP2,upstream_gene_variant,,ENST00000464656,;	.	29	57	SUCCESS
NFYC	4802	.	GRCh37	1	41215315	41215315	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	48	79	0	ENST00000308733.5:c.248G>C	p.Arg83Pro	p.R83P	ENST00000308733		83	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS44120.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGAGCCT	NONE	.	.	hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8,Gene3D:1.10.20.10,Pfam_domain:PF00808,Superfamily_domains:SSF47113	.	.	ENSP00000396620	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000425457	Transcript	.	.	ENSG00000066136	7806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	NFYC_HUMAN	NFYC	HGNC	Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN	.	UPI0000D4DA2D	SNV	NFYC,missense_variant,p.Arg83Pro,ENST00000456393,;NFYC,missense_variant,p.Arg59Pro,ENST00000530965,;NFYC,missense_variant,p.Arg83Pro,ENST00000372652,;NFYC,missense_variant,p.Arg83Pro,ENST00000372651,;NFYC,missense_variant,p.Arg83Pro,ENST00000425457,;NFYC,missense_variant,p.Arg83Pro,ENST00000453631,;NFYC,missense_variant,p.Arg83Pro,ENST00000372653,;NFYC,missense_variant,p.Arg83Pro,ENST00000447388,;NFYC,missense_variant,p.Arg83Pro,ENST00000372669,;NFYC,missense_variant,p.Arg83Pro,ENST00000416859,;NFYC,missense_variant,p.Arg83Pro,ENST00000308733,;NFYC,missense_variant,p.Arg83Pro,ENST00000440226,;NFYC,missense_variant,p.Arg83Pro,ENST00000372654,;NFYC,missense_variant,p.Arg83Pro,ENST00000525290,;NFYC,intron_variant,,ENST00000427410,;NFYC,downstream_gene_variant,,ENST00000531464,;NFYC,upstream_gene_variant,,ENST00000414185,;NFYC,downstream_gene_variant,,ENST00000534399,;MIR30E,upstream_gene_variant,,ENST00000362104,;NFYC,non_coding_transcript_exon_variant,,ENST00000467203,;NFYC,intron_variant,,ENST00000424419,;	408	79	70	SUCCESS
TAS1R1	80835	.	GRCh37	1	6631122	6631122	+	synonymous_variant	Silent	SNP	G	G	A	rs375985047	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	38	102	0	ENST00000333172.6:c.345G>A	p.Thr115=	p.T115=	ENST00000333172	NM_138697.3	115	acG/acA	0	A:0.0007	.	.	.	.	A	T	protein_coding	YES	CCDS81.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGCTGAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	.	A:0	ENSP00000331867	.	2/6	.	.	.	.	.	.	.	.	rs375985047	2/6	PASS	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,synonymous_variant,p.%3D,ENST00000411823,;TAS1R1,synonymous_variant,p.%3D,ENST00000415267,;TAS1R1,synonymous_variant,p.%3D,ENST00000351136,;TAS1R1,synonymous_variant,p.%3D,ENST00000333172,;TAS1R1,synonymous_variant,p.%3D,ENST00000328191,;	538	102	53	SUCCESS
KIAA1107	284697	.	GRCh37	1	92642924	92642924	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	7	320	0	ENST00000370378.4:c.860C>G	p.Pro287Arg	p.P287R	ENST00000370378	NM_015237.2	287	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS44172.1	860	MUTECT|MUSE	.	AGGACCCTCCA	NONE	.	.	hmmpanther:PTHR22427	.	.	ENSP00000359404	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000370378	Transcript	.	.	ENSG00000069712	29192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	tolerated(0.07)	.	.	KIAA1107	HGNC	E9PEZ5_HUMAN	.	UPI00017C1449	SNV	KIAA1107,missense_variant,p.Pro287Arg,ENST00000370378,;KIAA1107,missense_variant,p.Pro342Arg,ENST00000409154,;	958	320	228	SUCCESS
C20orf26	0	.	GRCh37	20	20340921	20340921	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	69	136	0	ENST00000245957.5:c.3581A>G	p.Glu1194Gly	p.E1194G	ENST00000245957	NM_015585.3	1194	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33447.1	3581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGAGAAGC	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.05)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Glu1194Gly,ENST00000245957,;C20orf26,3_prime_UTR_variant,,ENST00000377309,;C20orf26,3_prime_UTR_variant,,ENST00000377308,;	3657	136	178	SUCCESS
SOGA1	140710	.	GRCh37	20	35443555	35443555	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	65	88	0	ENST00000237536.4:c.2290G>A	p.Ala764Thr	p.A764T	ENST00000237536	NM_080627.2	764	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS54459.1	2290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCCAGAA	NONE	.	.	hmmpanther:PTHR15742:SF1,hmmpanther:PTHR15742	.	.	ENSP00000237536	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.55)	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,missense_variant,p.Ala764Thr,ENST00000237536,;SOGA1,missense_variant,p.Ala526Thr,ENST00000279034,;SOGA1,missense_variant,p.Ala526Thr,ENST00000357779,;SOGA1,missense_variant,p.Ala367Thr,ENST00000456801,;SOGA1,missense_variant,p.Ala378Thr,ENST00000465671,;	2632	88	135	SUCCESS
TIAM1	7074	.	GRCh37	21	32492952	32492952	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	55	0	ENST00000286827.3:c.4510A>G	p.Ile1504Val	p.I1504V	ENST00000286827	NM_003253.2	1504	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13609.1	4510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGATGTCTG	NONE	.	.	.	.	.	ENSP00000286827	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000286827	Transcript	.	.	ENSG00000156299	11805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TIAM1_HUMAN	TIAM1	HGNC	C9JMB5_HUMAN	.	UPI000013DE6F	SNV	TIAM1,missense_variant,p.Ile1504Val,ENST00000286827,;TIAM1,missense_variant,p.Ile1444Val,ENST00000541036,;TIAM1,intron_variant,,ENST00000423206,;TIAM1,downstream_gene_variant,,ENST00000491927,;	4982	55	76	SUCCESS
MAPK1	5594	.	GRCh37	22	22160239	22160239	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	66	116	0	ENST00000215832.6:c.392A>G	p.Tyr131Cys	p.Y131C	ENST00000215832	NM_002745.4	131	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13795.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGTAGAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF161,PROSITE_patterns:PS01351,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000215832	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000215832	Transcript	.	.	ENSG00000100030	6871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MK01_HUMAN	MAPK1	HGNC	Q1HBJ4_HUMAN,B4DHN0_HUMAN	.	UPI000000104F	SNV	MAPK1,missense_variant,p.Tyr131Cys,ENST00000398822,;MAPK1,missense_variant,p.Tyr131Cys,ENST00000544786,;MAPK1,missense_variant,p.Tyr131Cys,ENST00000215832,;	581	116	164	SUCCESS
TTLL1	25809	.	GRCh37	22	43464505	43464505	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	107	0	ENST00000266254.7:c.414G>A	p.Lys138=	p.K138=	ENST00000266254	NM_012263.4	138	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS14043.1	414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCTTCAT	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF31,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000266254	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000266254	Transcript	.	.	ENSG00000100271	1312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL1_HUMAN	TTLL1	HGNC	.	.	UPI00001377A7	SNV	TTLL1,synonymous_variant,p.%3D,ENST00000266254,;TTLL1,synonymous_variant,p.%3D,ENST00000331018,;TTLL1,downstream_gene_variant,,ENST00000445824,;TTLL1,3_prime_UTR_variant,,ENST00000440761,;TTLL1,3_prime_UTR_variant,,ENST00000439248,;	655	107	108	SUCCESS
TTN	7273	.	GRCh37	2	179647562	179647562	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	100	0	ENST00000591111.1:c.3071T>C	p.Val1024Ala	p.V1024A	ENST00000591111		1024	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS59435.1	3071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGACGGTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	18/363	.	.	.	.	.	.	.	.	.	18/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val1024Ala,ENST00000360870,;TTN,missense_variant,p.Val1024Ala,ENST00000342992,;TTN,missense_variant,p.Val978Ala,ENST00000342175,;TTN,missense_variant,p.Val978Ala,ENST00000359218,;TTN,missense_variant,p.Val1024Ala,ENST00000589042,;TTN,missense_variant,p.Val1024Ala,ENST00000591111,;TTN,missense_variant,p.Val978Ala,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000436599,;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	3296	100	140	SUCCESS
TRIP12	9320	.	GRCh37	2	230655847	230655847	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	91	0	ENST00000283943.5:c.4311A>G	p.Leu1437=	p.L1437=	ENST00000283943	NM_004238.1	1437	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33391.1	4311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATAACTC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	29/41	.	.	.	.	.	.	.	.	.	29/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,synonymous_variant,p.%3D,ENST00000283943,;TRIP12,synonymous_variant,p.%3D,ENST00000389045,;TRIP12,synonymous_variant,p.%3D,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000470302,;TRIP12,downstream_gene_variant,,ENST00000461189,;TRIP12,downstream_gene_variant,,ENST00000495322,;	4490	91	123	SUCCESS
PTCD3	55037	.	GRCh37	2	86362000	86362000	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	98	198	0	ENST00000254630.7:c.1668A>C	p.Lys556Asn	p.K556N	ENST00000254630	NM_017952.5	556	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS33235.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAATCTGC	NONE	.	.	hmmpanther:PTHR16276:SF0,hmmpanther:PTHR16276	.	.	ENSP00000254630	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000254630	Transcript	.	.	ENSG00000132300	24717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	PTCD3_HUMAN	PTCD3	HGNC	.	.	UPI0000208870	SNV	PTCD3,missense_variant,p.Lys556Asn,ENST00000254630,;SNORD94,upstream_gene_variant,,ENST00000386037,;PTCD3,non_coding_transcript_exon_variant,,ENST00000477520,;PTCD3,non_coding_transcript_exon_variant,,ENST00000494323,;PTCD3,non_coding_transcript_exon_variant,,ENST00000467273,;PTCD3,non_coding_transcript_exon_variant,,ENST00000487043,;PTCD3,non_coding_transcript_exon_variant,,ENST00000493430,;PTCD3,non_coding_transcript_exon_variant,,ENST00000472044,;PTCD3,non_coding_transcript_exon_variant,,ENST00000469585,;PTCD3,downstream_gene_variant,,ENST00000476215,;PTCD3,downstream_gene_variant,,ENST00000464541,;	1734	198	245	SUCCESS
ASTL	431705	.	GRCh37	2	96789809	96789809	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774657969	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	79	0	ENST00000342380.2:c.1076C>T	p.Ser359Leu	p.S359L	ENST00000342380	NM_001002036.3	359	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS33249.1	1076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCGAGGCC	NONE	.	.	.	.	.	ENSP00000343674	.	9/9	.	.	.	.	.	.	.	.	rs774657969	9/9	PASS	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.18)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Ser359Leu,ENST00000342380,;	1076	79	95	SUCCESS
COL6A6	131873	.	GRCh37	3	130284086	130284086	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	66	145	0	ENST00000358511.6:c.910G>T	p.Gly304Trp	p.G304W	ENST00000358511	NM_001102608.1	304	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS46911.1	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGGGAAG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Gly304Trp,ENST00000453409,;COL6A6,missense_variant,p.Gly304Trp,ENST00000358511,;	941	145	178	SUCCESS
MIR551B	693136	.	GRCh37	3	168269684	168269684	+	mature_miRNA_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	60	126	1	ENST00000384984.1:n.43C>A		p.*15*	ENST00000384984				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCTGGTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384984	Transcript	.	.	ENSG00000207717	32807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR551B	HGNC	.	.	.	SNV	MIR551B,mature_miRNA_variant,,ENST00000384984,;EGFEM1P,intron_variant,,ENST00000506760,;EGFEM1P,intron_variant,,ENST00000431685,;	43	127	214	SUCCESS
NLGN1	22871	.	GRCh37	3	173996654	173996654	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	40	0	ENST00000457714.1:c.867del	p.Gln290AsnfsTer4	p.Q290Nfs*4	ENST00000457714	NM_014932.3	288	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS3222.1	863	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGGACTTTTTC	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	deletion	NLGN1,frameshift_variant,p.Gln330AsnfsTer4,ENST00000415045,;NLGN1,frameshift_variant,p.Gln330AsnfsTer4,ENST00000401917,;NLGN1,frameshift_variant,p.Gln290AsnfsTer4,ENST00000457714,;NLGN1,frameshift_variant,p.Gln290AsnfsTer4,ENST00000361589,;NLGN1,frameshift_variant,p.Gln290AsnfsTer4,ENST00000545397,;NLGN1,non_coding_transcript_exon_variant,,ENST00000469564,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,non_coding_transcript_exon_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000490929,;	1292	40	65	SUCCESS
ZNF639	51193	.	GRCh37	3	179047483	179047483	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	364	139	284	0	ENST00000326361.3:c.136A>T	p.Arg46Ter	p.R46*	ENST00000326361	NM_016331.1	46	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS3227.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGAGACAG	NONE	.	.	hmmpanther:PTHR24404:SF3,hmmpanther:PTHR24404	.	.	ENSP00000325634	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000326361	Transcript	.	.	ENSG00000121864	30950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN639_HUMAN	ZNF639	HGNC	J3KR68_HUMAN,J3KR59_HUMAN,C9J3R1_HUMAN,C9IZP0_HUMAN	.	UPI000003EA4C	SNV	ZNF639,stop_gained,p.Arg46Ter,ENST00000496856,;ZNF639,stop_gained,p.Arg46Ter,ENST00000481587,;ZNF639,stop_gained,p.Arg46Ter,ENST00000491818,;ZNF639,stop_gained,p.Arg46Ter,ENST00000466264,;ZNF639,stop_gained,p.Arg46Ter,ENST00000484866,;ZNF639,stop_gained,p.Arg46Ter,ENST00000494234,;ZNF639,stop_gained,p.Arg46Ter,ENST00000326361,;ZNF639,non_coding_transcript_exon_variant,,ENST00000466663,;ZNF639,non_coding_transcript_exon_variant,,ENST00000483460,;	581	284	504	SUCCESS
ADIPOQ	9370	.	GRCh37	3	186570987	186570987	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372597136	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	393	159	297	0	ENST00000320741.2:c.140C>T	p.Pro47Leu	p.P47L	ENST00000320741	NM_004797.3	47	cCg/cTg	0	T:0.0002	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS3284.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCCGGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF81	T:0	T:0	ENSP00000405611	T:0	2/3	.	.	.	.	.	.	.	.	rs372597136	2/3	PASS	ENST00000412955	Transcript	.	T:0.0002	ENSG00000181092	13633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	T:0.001	deleterious(0)	.	ADIPO_HUMAN	ADIPOQ	HGNC	A8K660_HUMAN	.	UPI0000034252	SNV	ADIPOQ,missense_variant,p.Pro47Leu,ENST00000412955,;ADIPOQ,missense_variant,p.Pro47Leu,ENST00000444204,;ADIPOQ,missense_variant,p.Pro47Leu,ENST00000320741,;ADIPOQ-AS1,non_coding_transcript_exon_variant,,ENST00000422718,;	281	297	553	SUCCESS
OSBPL10	114884	.	GRCh37	3	32022658	32022658	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	28	0	ENST00000396556.2:c.14T>C	p.Val5Ala	p.V5A	ENST00000396556	NM_017784.4	5	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS2651.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACTGCC	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47	.	.	ENSP00000379804	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000396556	Transcript	.	.	ENSG00000144645	16395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.44)	.	OSB10_HUMAN	OSBPL10	HGNC	.	.	UPI0000130E9B	SNV	OSBPL10,missense_variant,p.Val5Ala,ENST00000396556,;OSBPL10,missense_variant,p.Val5Ala,ENST00000438237,;ZNF860,upstream_gene_variant,,ENST00000360311,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000452791,;OSBPL10,intron_variant,,ENST00000479173,;OSBPL10,upstream_gene_variant,,ENST00000480671,;ZNF860,upstream_gene_variant,,ENST00000489408,;OSBPL10,upstream_gene_variant,,ENST00000465626,;	137	28	38	SUCCESS
COL7A1	1294	.	GRCh37	3	48630101	48630101	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747699511	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	22	41	0	ENST00000328333.8:c.878G>T	p.Arg293Leu	p.R293L	ENST00000328333	NM_000094.3	293	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2773.1	878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCGCACA	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24023,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000332371	.	7/118	.	.	.	.	.	.	.	.	rs747699511	7/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Arg293Leu,ENST00000328333,;COL7A1,missense_variant,p.Arg293Leu,ENST00000454817,;	986	41	39	SUCCESS
HS3ST1	9957	.	GRCh37	4	11401607	11401607	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs568292548	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	39	0	ENST00000002596.5:c.23C>T	p.Ala8Val	p.A8V	ENST00000002596	NM_005114.2	8	gCg/gTg	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS3408.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGCGCCC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605	A:0	.	ENSP00000002596	A:0.001	2/2	.	.	.	.	.	.	.	.	rs568292548	2/2	PASS	ENST00000002596	Transcript	.	A:0.0004	ENSG00000002587	5194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0.001	tolerated(1)	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,missense_variant,p.Ala8Val,ENST00000510712,;HS3ST1,missense_variant,p.Ala8Val,ENST00000002596,;HS3ST1,missense_variant,p.Ala8Val,ENST00000514690,;	1198	40	48	SUCCESS
FRYL	285527	.	GRCh37	4	48581248	48581248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	95	0	ENST00000358350.4:c.2270T>A	p.Leu757His	p.L757H	ENST00000358350	NM_015030.1	757	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS43227.1	2270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGAGCAAA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	23/64	.	.	.	.	.	.	.	.	.	23/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,missense_variant,p.Leu757His,ENST00000358350,;FRYL,missense_variant,p.Leu757His,ENST00000503238,;FRYL,missense_variant,p.Leu757His,ENST00000507711,;FRYL,missense_variant,p.Leu757His,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000506685,;RNU5E-3P,upstream_gene_variant,,ENST00000515913,;	2875	95	96	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130778197	130778197	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	92	0	ENST00000509018.1:c.3455A>C	p.Lys1152Thr	p.K1152T	ENST00000509018	NM_016340.5	1152	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS54900.1	3479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATTTGGCT	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF171	.	.	ENSP00000296859	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000296859	Transcript	.	.	ENSG00000158987	20655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	deleterious_low_confidence(0.02)	.	RPGF6_HUMAN	RAPGEF6	HGNC	D6RB02_HUMAN	.	UPI000189A836	SNV	RAPGEF6,missense_variant,p.Lys875Thr,ENST00000512052,;RAPGEF6,missense_variant,p.Lys1165Thr,ENST00000307984,;RAPGEF6,missense_variant,p.Lys1160Thr,ENST00000507093,;CTC-432M15.3,missense_variant,p.Lys1202Thr,ENST00000514667,;RAPGEF6,missense_variant,p.Lys1160Thr,ENST00000296859,;RAPGEF6,missense_variant,p.Lys1152Thr,ENST00000509018,;RAPGEF6,missense_variant,p.Lys1152Thr,ENST00000308008,;RAPGEF6,missense_variant,p.Lys1152Thr,ENST00000515170,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000512611,;	3560	92	109	SUCCESS
ATP10B	23120	.	GRCh37	5	160047635	160047644	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGCCAGGT	CTGGCCAGGT	-	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	CTGGCCAGGT	CTGGCCAGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	49	41	59	0	ENST00000327245.5:c.2126_2135del	p.Asp709GlyfsTer27	p.D709Gfs*27	ENST00000327245	NM_025153.2	709	gACCTGGCCAGg/gg	0	.	.	.	.	.	-	DLAR/X	protein_coding	YES	CCDS43394.1	2126-2135	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGGCCTGGCCAGGTCTGTG	NONE	.	.	Pfam_domain:PF12710,Gene3D:3.40.1110.10,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	deletion	ATP10B,frameshift_variant,p.Asp709GlyfsTer27,ENST00000327245,;ATP10B,frameshift_variant,p.Asp317GlyfsTer27,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;	2973-2982	59	90	SUCCESS
PELO	53918	.	GRCh37	5	52096333	52096333	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	68	1	ENST00000274311.2:c.105G>T	p.Val35=	p.V35=	ENST00000274311	NM_015946.4	35	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3956.1	105	MUTECT|MUSE	.	CAGGTGGGCGA	NONE	.	.	hmmpanther:PTHR10853,Pfam_domain:PF03463,TIGRFAM_domain:TIGR00111,Superfamily_domains:SSF159065	.	.	ENSP00000274311	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000274311	Transcript	.	.	ENSG00000152684	8829	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PELO_HUMAN	PELO	HGNC	.	.	UPI000013D9FE	SNV	PELO,synonymous_variant,p.%3D,ENST00000274311,;ITGA1,intron_variant,,ENST00000282588,;PELO,intron_variant,,ENST00000506949,;ITGA1,intron_variant,,ENST00000504086,;	1090	69	85	SUCCESS
PIK3R1	5295	.	GRCh37	5	67590433	67590433	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	52	118	0	ENST00000274335.5:c.1495C>T	p.Gln499Ter	p.Q499*	ENST00000274335		499	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3993.1	1495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCAGACC	NONE	.	.	hmmpanther:PTHR10155:SF3,hmmpanther:PTHR10155,Prints_domain:PR00678	.	.	ENSP00000428056	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000521381	Transcript	1	.	ENSG00000145675	8979	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P85A_HUMAN	PIK3R1	HGNC	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN	.	UPI000013D9FF	SNV	PIK3R1,stop_gained,p.Gln499Ter,ENST00000274335,;PIK3R1,stop_gained,p.Gln499Ter,ENST00000521381,;PIK3R1,stop_gained,p.Gln172Ter,ENST00000519025,;PIK3R1,stop_gained,p.Gln229Ter,ENST00000336483,;PIK3R1,stop_gained,p.Gln499Ter,ENST00000396611,;PIK3R1,stop_gained,p.Gln499Ter,ENST00000521657,;PIK3R1,stop_gained,p.Gln199Ter,ENST00000320694,;PIK3R1,stop_gained,p.Gln136Ter,ENST00000521409,;PIK3R1,stop_gained,p.Gln136Ter,ENST00000523872,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	2111	118	133	SUCCESS
CCNH	902	.	GRCh37	5	86708358	86708358	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	18	0	ENST00000256897.4:c.117+137A>G		p.*39*	ENST00000256897	NM_001239.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4064.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTATTTTGA	NONE	.	.	.	.	.	ENSP00000256897	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256897	Transcript	.	.	ENSG00000134480	1594	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNH_HUMAN	CCNH	HGNC	D6RHI7_HUMAN	.	UPI0000048D5B	SNV	CCNH,5_prime_UTR_variant,,ENST00000504878,;CCNH,intron_variant,,ENST00000256897,;CCNH,upstream_gene_variant,,ENST00000508855,;CCNH,intron_variant,,ENST00000510020,;CCNH,intron_variant,,ENST00000513499,;CCNH,intron_variant,,ENST00000505230,;CCNH,upstream_gene_variant,,ENST00000505587,;CCNH,upstream_gene_variant,,ENST00000504115,;	.	18	26	SUCCESS
PHACTR2	9749	.	GRCh37	6	144095324	144095324	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs781238513	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	78	140	0	ENST00000427704.2:c.1528C>T	p.Arg510Ter	p.R510*	ENST00000427704	NM_014721.2	510	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS47493.1	1561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCGACAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12751:SF5,hmmpanther:PTHR12751	.	.	ENSP00000417038	.	8/13	.	.	.	.	.	.	.	.	rs781238513	8/13	PASS	ENST00000440869	Transcript	.	.	ENSG00000112419	20956	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHAR2_HUMAN	PHACTR2	HGNC	.	.	UPI000020E355	SNV	PHACTR2,stop_gained,p.Arg510Ter,ENST00000427704,;PHACTR2,stop_gained,p.Arg521Ter,ENST00000440869,;PHACTR2,stop_gained,p.Arg430Ter,ENST00000305766,;PHACTR2,stop_gained,p.Arg441Ter,ENST00000367582,;PHACTR2,stop_gained,p.Arg498Ter,ENST00000367584,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000536245,;	1760	140	96	SUCCESS
LPA	4018	.	GRCh37	6	160966486	160966486	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776342497	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	35	42	0	ENST00000316300.5:c.5384A>G	p.Asp1795Gly	p.D1795G	ENST00000316300		1795	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS43523.1	5384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATCACAG	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24261,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000395608	.	34/40	.	.	.	.	.	.	.	.	rs776342497,COSM1075670	34/40	PASS	ENST00000447678	Transcript	.	.	ENSG00000198670	6667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.228)	.	tolerated(0.06)	0,1	APOA_HUMAN	LPA	HGNC	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN	.	UPI0000458AC9	SNV	LPA,missense_variant,p.Asp1795Gly,ENST00000316300,;LPA,missense_variant,p.Asp1795Gly,ENST00000447678,;	5505	42	44	SUCCESS
LAMB4	22798	.	GRCh37	7	107706863	107706863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	81	127	0	ENST00000205386.4:c.2629G>T	p.Gly877Trp	p.G877W	ENST00000205386		877	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS34732.1	2629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCTGTCT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000373433	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000388781	Transcript	.	.	ENSG00000091128	6491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAMB4_HUMAN	LAMB4	HGNC	C9JM08_HUMAN	.	UPI0000198CD5	SNV	LAMB4,missense_variant,p.Gly877Trp,ENST00000388781,;LAMB4,missense_variant,p.Gly877Trp,ENST00000388780,;LAMB4,missense_variant,p.Gly877Trp,ENST00000205386,;LAMB4,upstream_gene_variant,,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,upstream_gene_variant,,ENST00000471677,;	2713	127	183	SUCCESS
DNAH11	8701	.	GRCh37	7	21934600	21934600	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	52	95	0	ENST00000409508.3:c.13032T>G	p.Thr4344=	p.T4344=	ENST00000409508	NM_001277115.1	4344	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	.	13053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACTTATGG	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000330671	.	80/83	.	.	.	.	.	.	.	.	.	80/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,synonymous_variant,p.%3D,ENST00000328843,;DNAH11,synonymous_variant,p.%3D,ENST00000409508,;DNAH11,non_coding_transcript_exon_variant,,ENST00000479878,;	13084	95	120	SUCCESS
VSTM2A	222008	.	GRCh37	7	54610242	54610242	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	31	0	ENST00000407838.3:c.-182G>T		p.*61*	ENST00000407838	NM_182546.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5512.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGTTCTA	NONE	.	.	.	.	.	ENSP00000384967	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,5_prime_UTR_variant,,ENST00000402026,;VSTM2A,5_prime_UTR_variant,,ENST00000302287,;VSTM2A,5_prime_UTR_variant,,ENST00000404951,;VSTM2A,5_prime_UTR_variant,,ENST00000407838,;VSTM2A,upstream_gene_variant,,ENST00000402613,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	225	31	17	SUCCESS
PDLIM2	64236	.	GRCh37	8	22451394	22451394	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200868327	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	32	0	ENST00000397760.4:c.1030G>T	p.Ala344Ser	p.A344S	ENST00000397760		344	Gca/Tca	0	A:0	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS6032.2	1780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGCACCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF1	A:0	A:0.0001	ENSP00000312634	A:0	10/10	.	.	.	.	.	.	.	.	rs200868327,COSM1098122	10/10	PASS	ENST00000308354	Transcript	.	A:0.0016	ENSG00000120913	13992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.176)	A:0.0082	tolerated(0.05)	0,1	PDLI2_HUMAN	PDLIM2	HGNC	C9K0F0_HUMAN,C9JSR2_HUMAN,C9JS55_HUMAN,C9J760_HUMAN,C9J0X3_HUMAN,B3KPU0_HUMAN	.	UPI0000E5AE4E	SNV	PDLIM2,missense_variant,p.Ala344Ser,ENST00000397760,;PDLIM2,missense_variant,p.Ala594Ser,ENST00000308354,;PDLIM2,missense_variant,p.Ala344Ser,ENST00000409417,;PDLIM2,missense_variant,p.Ala344Ser,ENST00000397761,;PDLIM2,3_prime_UTR_variant,,ENST00000339162,;PDLIM2,3_prime_UTR_variant,,ENST00000409141,;PDLIM2,intron_variant,,ENST00000265810,;AC037459.4,intron_variant,,ENST00000430850,;AC037459.4,intron_variant,,ENST00000450780,;AC037459.4,intron_variant,,ENST00000447849,;PDLIM2,downstream_gene_variant,,ENST00000456545,;PDLIM2,downstream_gene_variant,,ENST00000452226,;PDLIM2,non_coding_transcript_exon_variant,,ENST00000448520,;PDLIM2,non_coding_transcript_exon_variant,,ENST00000443561,;PDLIM2,non_coding_transcript_exon_variant,,ENST00000464275,;PDLIM2,downstream_gene_variant,,ENST00000416159,;	1819	33	50	SUCCESS
PTDSS1	9791	.	GRCh37	8	97332514	97332514	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	53	140	0	ENST00000517309.1:c.1115del	p.Gly372AspfsTer31	p.G372Dfs*31	ENST00000517309	NM_014754.1	372	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS6271.1	1114	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATTTGGACAA	NONE	.	.	Pfam_domain:PF03034,hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1,Transmembrane_helices:TMhelix	.	.	ENSP00000430548	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000517309	Transcript	1	.	ENSG00000156471	9587	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTSS1_HUMAN	PTDSS1	HGNC	Q9BUQ5_HUMAN	.	UPI0000132810	deletion	PTDSS1,frameshift_variant,p.Gly372AspfsTer31,ENST00000517309,;PTDSS1,frameshift_variant,p.Gly226AspfsTer31,ENST00000455950,;PTDSS1,frameshift_variant,p.Gly169AspfsTer31,ENST00000522072,;PTDSS1,3_prime_UTR_variant,,ENST00000337004,;	1440	140	209	SUCCESS
UBAC1	10422	.	GRCh37	9	138838155	138838155	+	synonymous_variant	Silent	SNP	C	C	A	rs775731673	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	47	74	0	ENST00000371756.3:c.504G>T	p.Ala168=	p.A168=	ENST00000371756	NM_016172.2	168	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS35177.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCGCTAA	NONE	.	.	Superfamily_domains:SSF46934,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF31	.	.	ENSP00000360821	.	5/10	.	.	.	.	.	.	.	.	rs775731673,COSM3905617	5/10	PASS	ENST00000371756	Transcript	.	.	ENSG00000130560	30221	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	UBAC1_HUMAN	UBAC1	HGNC	.	.	UPI0000070A05	SNV	UBAC1,synonymous_variant,p.%3D,ENST00000371756,;UBAC1,non_coding_transcript_exon_variant,,ENST00000471163,;UBAC1,downstream_gene_variant,,ENST00000486258,;UBAC1,downstream_gene_variant,,ENST00000478485,;UBAC1,upstream_gene_variant,,ENST00000489050,;UBAC1,upstream_gene_variant,,ENST00000465873,;	722	74	114	SUCCESS
SMARCA2	6595	.	GRCh37	9	2101571	2101571	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	299	640	0	ENST00000349721.2:c.3080A>C	p.Glu1027Ala	p.E1027A	ENST00000349721	NM_003070.3	1027	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS34977.1	3080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGAATCCT	NONE	.	.	hmmpanther:PTHR10799:SF541,hmmpanther:PTHR10799,Superfamily_domains:SSF52540	.	.	ENSP00000371638	.	22/34	.	.	.	.	.	.	.	.	.	22/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,missense_variant,p.Glu1027Ala,ENST00000382194,;SMARCA2,missense_variant,p.Glu1027Ala,ENST00000382203,;SMARCA2,missense_variant,p.Glu1027Ala,ENST00000357248,;SMARCA2,missense_variant,p.Glu1027Ala,ENST00000349721,;	3289	640	414	SUCCESS
MAGEB4	4115	.	GRCh37	X	30261048	30261048	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758990121	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	126	110	0	ENST00000378982.2:c.796C>A	p.Pro266Thr	p.P266T	ENST00000378982	NM_002367.3	266	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS14221.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCCACGC	NONE	byFrequency	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75,PROSITE_profiles:PS50838	.	.	ENSP00000368266	.	1/1	.	.	.	.	.	.	.	.	rs758990121	1/1	PASS	ENST00000378982	Transcript	.	.	ENSG00000120289	6811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MAGB4_HUMAN	MAGEB4	HGNC	.	.	UPI000012F055	SNV	MAGEB4,missense_variant,p.Pro266Thr,ENST00000378982,;MAGEB1,upstream_gene_variant,,ENST00000397548,;MAGEB1,upstream_gene_variant,,ENST00000397550,;MAGEB1,upstream_gene_variant,,ENST00000378981,;	992	110	148	SUCCESS
MXRA5	25878	.	GRCh37	X	3240024	3240024	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763695097	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	100	120	0	ENST00000217939.6:c.3702C>A	p.His1234Gln	p.H1234Q	ENST00000217939	NM_015419.3	1234	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS14124.1	3702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGTGTTT	NONE	byFrequency	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	rs763695097	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.29)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.His1234Gln,ENST00000217939,;	3857	120	114	SUCCESS
FTSJ1	24140	.	GRCh37	X	48336475	48336475	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1556966951	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	46	0	ENST00000348411.2:c.40C>T	p.Arg14Cys	p.R14C	ENST00000348411	NM_012280.2	14	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS14294.1	40	MUTECT|MUSE	.	ACTACCGCCTG	NONE	.	.	hmmpanther:PTHR10920,HAMAP:MF_03162,HAMAP:MF_01547	.	.	ENSP00000326948	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000348411	Transcript	.	.	ENSG00000068438	13254	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TRM7_HUMAN	FTSJ1	HGNC	.	.	UPI0000001C19	SNV	FTSJ1,missense_variant,p.Arg14Cys,ENST00000456787,;FTSJ1,missense_variant,p.Arg14Cys,ENST00000348411,;FTSJ1,missense_variant,p.Arg14Cys,ENST00000019019,;FTSJ1,intron_variant,,ENST00000396894,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000487353,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000485486,;FTSJ1,intron_variant,,ENST00000473235,;FTSJ1,intron_variant,,ENST00000492562,;FTSJ1,upstream_gene_variant,,ENST00000466371,;FTSJ1,upstream_gene_variant,,ENST00000475806,;FTSJ1,upstream_gene_variant,,ENST00000489599,;FTSJ1,upstream_gene_variant,,ENST00000467954,;FTSJ1,upstream_gene_variant,,ENST00000490202,;FTSJ1,upstream_gene_variant,,ENST00000496365,;	363	46	56	SUCCESS
USP51	158880	.	GRCh37	X	55514948	55514948	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	37	41	0	ENST00000500968.3:c.425C>G	p.Pro142Arg	p.P142R	ENST00000500968	NM_201286.3	142	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS14370.1	425	SOMATICSNIPER|VARSCANS	.	GCCGCGGTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF398	.	.	ENSP00000423333	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000500968	Transcript	.	.	ENSG00000247746	23086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.25)	.	UBP51_HUMAN	USP51	HGNC	.	.	UPI0000232F07	SNV	USP51,missense_variant,p.Pro142Arg,ENST00000500968,;USP51,intron_variant,,ENST00000586165,;	508	41	50	SUCCESS
KIAA1217	56243	.	GRCh37	10	24832401	24832401	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1445643491	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	131	0	ENST00000376454.3:c.4202A>G	p.His1401Arg	p.H1401R	ENST00000376454	NM_019590.3	1401	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS31165.1	4202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCATGATA	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.57)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.His1401Arg,ENST00000376454,;KIAA1217,missense_variant,p.His1084Arg,ENST00000376451,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,;KIAA1217,intron_variant,,ENST00000396446,;KIAA1217,intron_variant,,ENST00000376452,;KIAA1217,intron_variant,,ENST00000376462,;KIAA1217,intron_variant,,ENST00000458595,;KIAA1217,non_coding_transcript_exon_variant,,ENST00000492009,;	4232	131	108	SUCCESS
SVIL	6840	.	GRCh37	10	29818721	29818721	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	66	0	ENST00000355867.4:c.2159A>C	p.Asn720Thr	p.N720T	ENST00000355867	NM_021738.2	720	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS7164.1	2159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTTTCTT	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28	.	.	ENSP00000364547	.	14/40	.	.	.	.	.	.	.	.	.	14/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.78)	.	deleterious(0)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Asn720Thr,ENST00000355867,;SVIL,missense_variant,p.Asn326Thr,ENST00000375400,;SVIL,missense_variant,p.Asn720Thr,ENST00000375398,;	2609	66	57	SUCCESS
GJD4	219770	.	GRCh37	10	35897329	35897329	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	65	0	ENST00000321660.1:c.888T>A	p.Ser296Arg	p.S296R	ENST00000321660	NM_153368.2	296	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS7191.1	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGAGGT	NONE	.	.	hmmpanther:PTHR11984:SF3,hmmpanther:PTHR11984	.	.	ENSP00000315070	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321660	Transcript	.	.	ENSG00000177291	23296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	tolerated(0.06)	.	CXD4_HUMAN	GJD4	HGNC	.	.	UPI000007118B	SNV	GJD4,missense_variant,p.Ser296Arg,ENST00000321660,;RP11-425A6.5,upstream_gene_variant,,ENST00000609313,;	1046	65	63	SUCCESS
AGAP7	0	.	GRCh37	10	51465731	51465731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	13	0	ENST00000374095.5:c.725A>T	p.Glu242Val	p.E242V	ENST00000374095	NM_001077685.2	242	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41524.1	725	RADIA|SOMATICSNIPER|VARSCANS	.	TCCTCTCTTTG	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213	.	.	ENSP00000363208	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000374095	Transcript	.	.	ENSG00000204169	23465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.412)	.	deleterious(0.01)	.	AGAP7_HUMAN	AGAP7	HGNC	.	.	UPI000016167D	SNV	AGAP7,missense_variant,p.Glu242Val,ENST00000374095,;	851	13	22	SUCCESS
PCDH15	65217	.	GRCh37	10	55780163	55780163	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	63	0	ENST00000320301.6:c.2540A>T	p.Asp847Val	p.D847V	ENST00000320301	NM_033056.3	847	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS44404.1	2540	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTCGACA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	20/34	.	.	.	.	.	.	.	.	COSM1261122,COSM1261123,COSM1261125,COSM1261124	20/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1,1	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Asp776Val,ENST00000437009,;PCDH15,missense_variant,p.Asp825Val,ENST00000395433,;PCDH15,missense_variant,p.Asp854Val,ENST00000395445,;PCDH15,missense_variant,p.Asp847Val,ENST00000320301,;PCDH15,missense_variant,p.Asp458Val,ENST00000409834,;PCDH15,missense_variant,p.Asp810Val,ENST00000395432,;PCDH15,missense_variant,p.Asp847Val,ENST00000373955,;PCDH15,missense_variant,p.Asp847Val,ENST00000361849,;PCDH15,missense_variant,p.Asp847Val,ENST00000395438,;PCDH15,missense_variant,p.Asp852Val,ENST00000414778,;PCDH15,missense_variant,p.Asp854Val,ENST00000373965,;PCDH15,missense_variant,p.Asp847Val,ENST00000395430,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	2935	63	72	SUCCESS
LRRTM3	347731	.	GRCh37	10	68686716	68686716	+	synonymous_variant	Silent	SNP	A	A	G	rs1449999495	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	92	0	ENST00000361320.4:c.42A>G	p.Val14=	p.V14=	ENST00000361320	NM_178011.3	14	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS7270.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTAGCACT	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,synonymous_variant,p.%3D,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	620	92	81	SUCCESS
TYSND1	219743	.	GRCh37	10	71905831	71905831	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs948148941	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	91	0	ENST00000287078.6:c.512C>G	p.Ser171Trp	p.S171W	ENST00000287078	NM_173555.3	171	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS31213.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGACACT	NONE	.	.	PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0	.	.	ENSP00000287078	.	1/4	.	.	.	.	.	.	.	.	COSM1474734	1/4	PASS	ENST00000287078	Transcript	.	.	ENSG00000156521	28531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.663)	.	deleterious(0.04)	1	TYSD1_HUMAN	TYSND1	HGNC	.	.	UPI0000160C9B	SNV	TYSND1,missense_variant,p.Ser171Trp,ENST00000287078,;TYSND1,missense_variant,p.Ser171Trp,ENST00000335494,;SAR1A,downstream_gene_variant,,ENST00000373242,;SAR1A,downstream_gene_variant,,ENST00000373238,;SAR1A,downstream_gene_variant,,ENST00000431664,;SAR1A,downstream_gene_variant,,ENST00000373241,;TYSND1,intron_variant,,ENST00000479086,;TYSND1,upstream_gene_variant,,ENST00000494143,;	512	91	119	SUCCESS
TAF3	83860	.	GRCh37	10	8051233	8051233	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	27	45	0	ENST00000344293.5:c.2508C>T	p.Ser836=	p.S836=	ENST00000344293	NM_031923.3	836	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41487.1	2508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321,Superfamily_domains:SSF57903	.	.	ENSP00000340271	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000344293	Transcript	.	.	ENSG00000165632	17303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF3_HUMAN	TAF3	HGNC	.	.	UPI00004588FA	SNV	TAF3,synonymous_variant,p.%3D,ENST00000344293,;	2714	45	47	SUCCESS
C11orf70	0	.	GRCh37	11	101946655	101946655	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs777707051	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	53	152	1	ENST00000434758.2:c.487A>G	p.Arg163Gly	p.R163G	ENST00000434758	NM_032930.2	163	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8313.2	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATAGAGAA	NONE	.	.	hmmpanther:PTHR31078,hmmpanther:PTHR31078:SF1,Pfam_domain:PF14926	.	.	ENSP00000414390	.	5/7	.	.	.	.	.	.	.	.	rs777707051	5/7	PASS	ENST00000434758	Transcript	.	.	ENSG00000137691	28188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CK070_HUMAN	C11orf70	HGNC	.	.	UPI00001FA24F	SNV	C11orf70,missense_variant,p.Arg163Gly,ENST00000526781,;C11orf70,missense_variant,p.Arg55Gly,ENST00000529204,;C11orf70,missense_variant,p.Arg163Gly,ENST00000434758,;C11orf70,3_prime_UTR_variant,,ENST00000534360,;C11orf70,non_coding_transcript_exon_variant,,ENST00000530659,;	515	153	144	SUCCESS
APOA1	335	.	GRCh37	11	116707867	116707867	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	39	0	ENST00000236850.4:c.50A>T	p.Gln17Leu	p.Q17L	ENST00000236850	NM_000039.1	17	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8378.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCTGGCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18976:SF11,hmmpanther:PTHR18976	.	.	ENSP00000236850	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000236850	Transcript	.	.	ENSG00000118137	600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	APOA1_HUMAN	APOA1	HGNC	.	.	UPI000002C911	SNV	APOA1,missense_variant,p.Gln17Leu,ENST00000236850,;APOA1,missense_variant,p.Gln17Leu,ENST00000375320,;APOA1,missense_variant,p.Gln17Leu,ENST00000359492,;APOA1,missense_variant,p.Gln17Leu,ENST00000375323,;APOA1,intron_variant,,ENST00000375329,;APOC3,downstream_gene_variant,,ENST00000375345,;APOC3,downstream_gene_variant,,ENST00000227667,;APOA1-AS,intron_variant,,ENST00000444200,;	416	39	37	SUCCESS
ROBO3	64221	.	GRCh37	11	124740076	124740076	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	101	0	ENST00000397801.1:c.782T>A	p.Leu261Gln	p.L261Q	ENST00000397801	NM_022370.3	261	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44755.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCTGCGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000380903	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000397801	Transcript	.	.	ENSG00000154134	13433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	ROBO3_HUMAN	ROBO3	HGNC	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN	.	UPI000035AA82	SNV	ROBO3,missense_variant,p.Leu239Gln,ENST00000538940,;ROBO3,missense_variant,p.Leu261Gln,ENST00000397801,;	974	101	110	SUCCESS
SLC37A2	219855	.	GRCh37	11	124949588	124949588	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	104	0	ENST00000403796.2:c.459T>C	p.Asn153=	p.N153=	ENST00000403796	NM_001145290.1	153	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS31714.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAATGGACT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF163,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,PIRSF_domain:PIRSF002808,Superfamily_domains:SSF103473	.	.	ENSP00000311833	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000308074	Transcript	.	.	ENSG00000134955	20644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPX2_HUMAN	SLC37A2	HGNC	E9PRJ4_HUMAN,B7Z480_HUMAN	.	UPI000019AB60	SNV	SLC37A2,synonymous_variant,p.%3D,ENST00000308074,;SLC37A2,synonymous_variant,p.%3D,ENST00000403796,;SLC37A2,synonymous_variant,p.%3D,ENST00000407458,;SLC37A2,synonymous_variant,p.%3D,ENST00000298280,;SLC37A2,synonymous_variant,p.%3D,ENST00000532000,;SLC37A2,upstream_gene_variant,,ENST00000525837,;SLC37A2,non_coding_transcript_exon_variant,,ENST00000526405,;	491	104	103	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33628297	33628297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	126	0	ENST00000321505.4:c.4099C>T	p.Pro1367Ser	p.P1367S	ENST00000321505		1367	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44565.2	4099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAACCCACA	NONE	.	.	Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,missense_variant,p.Pro1367Ser,ENST00000321505,;KIAA1549L,missense_variant,p.Pro765Ser,ENST00000526400,;KIAA1549L,missense_variant,p.Pro1373Ser,ENST00000389726,;	4279	126	101	SUCCESS
FNBP4	23360	.	GRCh37	11	47765677	47765677	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	46	76	0	ENST00000263773.5:c.1284G>A	p.Val428=	p.V428=	ENST00000263773	NM_015308.2	428	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS41644.1	1284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACACACT	NONE	.	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186	.	.	ENSP00000263773	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000263773	Transcript	.	.	ENSG00000109920	19752	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNBP4_HUMAN	FNBP4	HGNC	.	.	UPI0000DBEF37	SNV	FNBP4,synonymous_variant,p.%3D,ENST00000263773,;FNBP4,non_coding_transcript_exon_variant,,ENST00000527894,;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,upstream_gene_variant,,ENST00000528388,;FNBP4,non_coding_transcript_exon_variant,,ENST00000544590,;	1297	76	83	SUCCESS
OR5D14	219436	.	GRCh37	11	55563337	55563337	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	77	0	ENST00000335605.1:c.306G>T	p.Gln102His	p.Q102H	ENST00000335605	NM_001004735.1	102	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS31508.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGTACTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.Gln102His,ENST00000335605,;	306	77	78	SUCCESS
DNHD1	144132	.	GRCh37	11	6541576	6541576	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	43	0	ENST00000254579.6:c.1837+57G>A		p.*613*	ENST00000254579	NM_144666.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44532.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGTACTA	NONE	.	.	.	.	.	ENSP00000254579	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODIFIER	10/42	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,3_prime_UTR_variant,,ENST00000354685,;DNHD1,intron_variant,,ENST00000527990,;DNHD1,intron_variant,,ENST00000254579,;DNHD1,non_coding_transcript_exon_variant,,ENST00000472080,;	.	43	45	SUCCESS
SLC29A2	3177	.	GRCh37	11	66136932	66136932	+	synonymous_variant	Silent	SNP	G	G	A	rs750969887	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	100	0	ENST00000357440.2:c.183C>T	p.Pro61=	p.P61=	ENST00000357440	NM_001532.2	61	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8137.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGGGACC	NONE	.	.	hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473	.	.	ENSP00000350024	.	3/12	.	.	.	.	.	.	.	.	rs750969887,COSM1605073	3/12	PASS	ENST00000357440	Transcript	.	.	ENSG00000174669	11004	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S29A2_HUMAN	SLC29A2	HGNC	.	.	UPI000013F0E7	SNV	SLC29A2,synonymous_variant,p.%3D,ENST00000311161,;SLC29A2,synonymous_variant,p.%3D,ENST00000546034,;SLC29A2,synonymous_variant,p.%3D,ENST00000544554,;SLC29A2,synonymous_variant,p.%3D,ENST00000357440,;RP11-867G23.8,downstream_gene_variant,,ENST00000580881,;SLC29A2,synonymous_variant,p.%3D,ENST00000540386,;SLC29A2,synonymous_variant,p.%3D,ENST00000541567,;	412	100	115	SUCCESS
CLPB	81570	.	GRCh37	11	72145609	72145609	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	30	0	ENST00000294053.3:c.-91T>G		p.*31*	ENST00000294053	NM_001258394.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8215.1	.	MUTECT|MUSE	.	CGCGAACAGGG	NONE	.	.	.	.	.	ENSP00000294053	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000294053	Transcript	.	.	ENSG00000162129	30664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLPB_HUMAN	CLPB	HGNC	F5H392_HUMAN	.	UPI00001359D5	SNV	CLPB,5_prime_UTR_variant,,ENST00000445069,;CLPB,5_prime_UTR_variant,,ENST00000538039,;CLPB,5_prime_UTR_variant,,ENST00000294053,;CLPB,5_prime_UTR_variant,,ENST00000543042,;CLPB,upstream_gene_variant,,ENST00000539148,;CLPB,upstream_gene_variant,,ENST00000340729,;CLPB,upstream_gene_variant,,ENST00000535990,;CLPB,upstream_gene_variant,,ENST00000437826,;CLPB,upstream_gene_variant,,ENST00000544683,;CLPB,upstream_gene_variant,,ENST00000542555,;CLPB,upstream_gene_variant,,ENST00000535477,;	84	30	31	SUCCESS
AKIP1	56672	.	GRCh37	11	8940933	8940933	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs148121612	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	75	0	ENST00000309377.4:c.539A>C	p.Tyr180Ser	p.Y180S	ENST00000309377	NM_020642.3	180	tAt/tCt	0	G:0.0002	G:0.0008	.	G:0	.	C	Y/S	protein_coding	YES	CCDS7793.1	539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTATTCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR14330,hmmpanther:PTHR14330:SF2	G:0	G:0	ENSP00000310459	G:0	6/6	.	.	.	.	.	.	.	.	rs148121612	6/6	PASS	ENST00000309377	Transcript	.	G:0.0002	ENSG00000166452	1170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	G:0	deleterious(0)	.	AKIP1_HUMAN	AKIP1	HGNC	E9PPN7_HUMAN	.	UPI0000072EAA	SNV	AKIP1,missense_variant,p.Tyr121Ser,ENST00000529942,;AKIP1,missense_variant,p.Tyr153Ser,ENST00000309357,;AKIP1,missense_variant,p.Tyr180Ser,ENST00000309377,;AKIP1,missense_variant,p.Tyr153Ser,ENST00000396648,;AKIP1,missense_variant,p.Tyr153Ser,ENST00000299576,;AKIP1,missense_variant,p.Tyr92Ser,ENST00000530281,;AKIP1,missense_variant,p.Tyr180Ser,ENST00000534147,;AKIP1,downstream_gene_variant,,ENST00000529876,;C11orf16,downstream_gene_variant,,ENST00000326053,;AKIP1,downstream_gene_variant,,ENST00000525005,;AKIP1,downstream_gene_variant,,ENST00000534506,;C11orf16,downstream_gene_variant,,ENST00000525780,;AKIP1,downstream_gene_variant,,ENST00000524577,;	629	75	94	SUCCESS
STAB2	55576	.	GRCh37	12	104100584	104100584	+	synonymous_variant	Silent	SNP	T	T	C	rs755755156	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	102	0	ENST00000388887.2:c.4011T>C	p.Cys1337=	p.C1337=	ENST00000388887	NM_017564.9	1337	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS31888.1	4011	RADIA|MUTECT|MUSE	.	TGCTGTGCCGG	NONE	byFrequency	.	hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03	.	.	ENSP00000373539	.	38/69	.	.	.	.	.	.	.	.	rs755755156	38/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,synonymous_variant,p.%3D,ENST00000388887,;STAB2,downstream_gene_variant,,ENST00000549474,;STAB2,upstream_gene_variant,,ENST00000549798,;	4215	102	89	SUCCESS
CCND2	894	.	GRCh37	12	4387935	4387935	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	57	0	ENST00000261254.3:c.421C>G	p.Leu141Val	p.L141V	ENST00000261254	NM_001759.3	141	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS8524.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAACTGGTG	NONE	.	.	Superfamily_domains:SSF47954,SMART_domains:SM00385,PIRSF_domain:PIRSF001771,Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10177:SF66,hmmpanther:PTHR10177	.	.	ENSP00000261254	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000261254	Transcript	.	.	ENSG00000118971	1583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	tolerated(0.19)	.	CCND2_HUMAN	CCND2	HGNC	.	.	UPI00001275C5	SNV	CCND2,missense_variant,p.Leu57Val,ENST00000536537,;CCND2,missense_variant,p.Leu141Val,ENST00000261254,;CCND2-AS2,upstream_gene_variant,,ENST00000537370,;CCND2-AS1,upstream_gene_variant,,ENST00000539135,;CCND2,upstream_gene_variant,,ENST00000541542,;CCND2,non_coding_transcript_exon_variant,,ENST00000536795,;	690	57	56	SUCCESS
KCNH3	23416	.	GRCh37	12	49943969	49943969	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	39	72	0	ENST00000257981.6:c.1775G>A	p.Arg592Gln	p.R592Q	ENST00000257981	NM_012284.1	592	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS8786.1	1775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGGGCAC	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF481,PROSITE_profiles:PS50042	.	.	ENSP00000257981	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000257981	Transcript	.	.	ENSG00000135519	6252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	KCNH3_HUMAN	KCNH3	HGNC	Q8N500_HUMAN	.	UPI000012DCA6	SNV	KCNH3,missense_variant,p.Arg592Gln,ENST00000257981,;KCNH3,downstream_gene_variant,,ENST00000551415,;	2035	72	72	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72008655	72008655	+	synonymous_variant	Silent	SNP	C	C	A	rs748187435	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	68	167	0	ENST00000378743.3:c.5319G>T	p.Gly1773=	p.G1773=	ENST00000378743	NM_144982.4	1773	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41813.1	5319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCCCTAA	NONE	byFrequency	.	hmmpanther:PTHR21563,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000368017	.	29/35	.	.	.	.	.	.	.	.	rs748187435	29/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,synonymous_variant,p.%3D,ENST00000378743,;ZFC3H1,synonymous_variant,p.%3D,ENST00000552994,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000546475,;ZFC3H1,downstream_gene_variant,,ENST00000546771,;ZFC3H1,upstream_gene_variant,,ENST00000550963,;ZFC3H1,upstream_gene_variant,,ENST00000551487,;ZFC3H1,upstream_gene_variant,,ENST00000547398,;	5678	168	159	SUCCESS
ZDHHC20	253832	.	GRCh37	13	22033279	22033279	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777297294	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	57	124	0	ENST00000400590.3:c.32A>G	p.Gln11Arg	p.Q11R	ENST00000400590		11	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS45017.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCTGGCAG	NONE	.	.	hmmpanther:PTHR22883:SF14,hmmpanther:PTHR22883	.	.	ENSP00000371905	.	1/12	.	.	.	.	.	.	.	.	rs777297294	1/12	PASS	ENST00000382466	Transcript	.	.	ENSG00000180776	20749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.57)	.	ZDH20_HUMAN	ZDHHC20	HGNC	I6L9D4_HUMAN	.	UPI00003B90E3	SNV	ZDHHC20,missense_variant,p.Gln11Arg,ENST00000422251,;ZDHHC20,missense_variant,p.Gln11Arg,ENST00000400590,;ZDHHC20,missense_variant,p.Gln11Arg,ENST00000415724,;ZDHHC20,missense_variant,p.Gln11Arg,ENST00000320220,;ZDHHC20,missense_variant,p.Gln11Arg,ENST00000382466,;ZDHHC20,5_prime_UTR_variant,,ENST00000542645,;	145	124	174	SUCCESS
NAA16	79612	.	GRCh37	13	41910840	41910840	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs553717732	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	35	123	0	ENST00000379406.3:c.962G>T	p.Gly321Val	p.G321V	ENST00000379406	NM_024561.4	321	gGc/gTc	0	.	A:0	.	A:0	.	T	G/V	protein_coding	YES	CCDS9379.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGGCTGCC	NONE	by1000G	.	PIRSF_domain:PIRSF000422,Pfam_domain:PF12569,hmmpanther:PTHR22767:SF5,hmmpanther:PTHR22767	A:0	.	ENSP00000368716	A:0	9/20	.	.	.	.	.	.	.	.	rs553717732	9/20	PASS	ENST00000379406	Transcript	.	A:0.0002	ENSG00000172766	26164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	A:0.001	deleterious(0)	.	NAA16_HUMAN	NAA16	HGNC	A4FU51_HUMAN	.	UPI00001B559E	SNV	NAA16,missense_variant,p.Gly321Val,ENST00000403412,;NAA16,missense_variant,p.Gly321Val,ENST00000379367,;NAA16,missense_variant,p.Gly321Val,ENST00000379406,;NAA16,intron_variant,,ENST00000476980,;NAA16,downstream_gene_variant,,ENST00000483215,;NAA16,missense_variant,p.Gly321Val,ENST00000464857,;	1286	123	98	SUCCESS
MYCBP2	23077	.	GRCh37	13	77751932	77751932	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	102	0	ENST00000357337.6:c.5177A>G	p.Tyr1726Cys	p.Y1726C	ENST00000357337		1726	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	.	5177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATAGACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846,Pfam_domain:PF08005	.	.	ENSP00000444596	.	35/83	.	.	.	.	.	.	.	.	.	35/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Tyr1726Cys,ENST00000357337,;MYCBP2,missense_variant,p.Tyr1726Cys,ENST00000544440,;MYCBP2,missense_variant,p.Tyr1764Cys,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;	5195	102	104	SUCCESS
MIR494	574452	.	GRCh37	14	101496028	101496028	+	mature_miRNA_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	35	52	0	ENST00000349529.2:n.58A>G		p.*20*	ENST00000349529				0	.	.	.	.	.	G	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACACGGGA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000349529	Transcript	.	.	ENSG00000194717	32084	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR494	HGNC	.	.	.	SNV	MIR494,mature_miRNA_variant,,ENST00000349529,;MIR543,upstream_gene_variant,,ENST00000390751,;MIR329-1,downstream_gene_variant,,ENST00000385028,;MIR758,downstream_gene_variant,,ENST00000390227,;MIR495,upstream_gene_variant,,ENST00000385010,;MIR329-2,downstream_gene_variant,,ENST00000385029,;MIR1193,upstream_gene_variant,,ENST00000408109,;MIR323A,downstream_gene_variant,,ENST00000362199,;MIR1197,downstream_gene_variant,,ENST00000408818,;MIR380,upstream_gene_variant,,ENST00000362112,;	58	52	46	SUCCESS
FRMD6	122786	.	GRCh37	14	52188702	52188702	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	74	0	ENST00000344768.5:c.1396G>T	p.Glu466Ter	p.E466*	ENST00000344768		466	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS58318.1	1396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGAGCAG	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9	.	.	ENSP00000343899	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000344768	Transcript	.	.	ENSG00000139926	19839	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRMD6_HUMAN	FRMD6	HGNC	G3V517_HUMAN,G3V3V8_HUMAN	.	UPI00000473F6	SNV	FRMD6,stop_gained,p.Glu389Ter,ENST00000554167,;FRMD6,stop_gained,p.Glu106Ter,ENST00000555703,;FRMD6,stop_gained,p.Glu458Ter,ENST00000395718,;FRMD6,stop_gained,p.Glu458Ter,ENST00000356218,;FRMD6,stop_gained,p.Glu466Ter,ENST00000344768,;FRMD6,stop_gained,p.Glu108Ter,ENST00000553556,;FRMD6,downstream_gene_variant,,ENST00000555197,;RNU6-301P,upstream_gene_variant,,ENST00000384277,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557522,;	1592	74	86	SUCCESS
ZFP36L1	677	.	GRCh37	14	69256412	69256412	+	synonymous_variant	Silent	SNP	G	G	A	rs1031264419	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	52	100	1	ENST00000336440.3:c.855C>T	p.Ser285=	p.S285=	ENST00000336440		285	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9791.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGGACTC	NONE	.	.	hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF53	.	.	ENSP00000388402	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,synonymous_variant,p.%3D,ENST00000336440,;ZFP36L1,synonymous_variant,p.%3D,ENST00000439696,;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,;ZFP36L1,downstream_gene_variant,,ENST00000557022,;ZFP36L1,downstream_gene_variant,,ENST00000553375,;ZFP36L1,downstream_gene_variant,,ENST00000557086,;	1157	101	69	SUCCESS
EDC3	80153	.	GRCh37	15	74967425	74967425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	46	0	ENST00000315127.4:c.41G>A	p.Cys14Tyr	p.C14Y	ENST00000315127	NM_025083.3	14	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS10267.1	41	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACAATTG	NONE	.	.	hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612,Pfam_domain:PF12701	.	.	ENSP00000320503	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000315127	Transcript	.	.	ENSG00000179151	26114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EDC3_HUMAN	EDC3	HGNC	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN	.	UPI000007309A	SNV	EDC3,missense_variant,p.Cys14Tyr,ENST00000563292,;EDC3,missense_variant,p.Cys14Tyr,ENST00000315127,;EDC3,missense_variant,p.Cys14Tyr,ENST00000568176,;EDC3,missense_variant,p.Cys14Tyr,ENST00000567813,;EDC3,missense_variant,p.Cys14Tyr,ENST00000566828,;EDC3,missense_variant,p.Cys14Tyr,ENST00000426797,;EDC3,missense_variant,p.Cys14Tyr,ENST00000566119,;EDC3,missense_variant,p.Cys14Tyr,ENST00000566243,;EDC3,missense_variant,p.Cys14Tyr,ENST00000570138,;EDC3,missense_variant,p.Cys14Tyr,ENST00000563009,;EDC3,missense_variant,p.Cys14Tyr,ENST00000569561,;EDC3,intron_variant,,ENST00000566219,;EDC3,upstream_gene_variant,,ENST00000562974,;EDC3,missense_variant,p.Cys14Tyr,ENST00000565602,;EDC3,non_coding_transcript_exon_variant,,ENST00000569007,;	223	46	66	SUCCESS
CPPED1	55313	.	GRCh37	16	12897629	12897629	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs577494472	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	87	0	ENST00000381774.4:c.5C>A	p.Ser2Ter	p.S2*	ENST00000381774	NM_018340.2	2	tCg/tAg	0	.	A:0	.	A:0	.	T	S/*	protein_coding	YES	CCDS42120.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGACATG	NONE	by1000G	.	.	A:0	.	ENSP00000371193	A:0	1/4	.	.	.	.	.	.	.	.	rs577494472	1/4	PASS	ENST00000381774	Transcript	.	A:0.0002	ENSG00000103381	25632	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	CPPED_HUMAN	CPPED1	HGNC	.	.	UPI000013D1D1	SNV	CPPED1,stop_gained,p.Ser2Ter,ENST00000381774,;CPPED1,stop_gained,p.Ser2Ter,ENST00000261660,;CPPED1,stop_gained,p.Ser2Ter,ENST00000433677,;CPPED1,non_coding_transcript_exon_variant,,ENST00000539677,;	246	87	85	SUCCESS
DNAH3	55567	.	GRCh37	16	21053420	21053420	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	45	78	0	ENST00000261383.3:c.4567C>T	p.Pro1523Ser	p.P1523S	ENST00000261383	NM_017539.1	1523	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS10594.1	4567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGGTTCA	BUFFER|p.A1526T|c.4576G>A|3,BUFFER|p.A1526T|c.4576G>A|4	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	32/62	.	.	.	.	.	.	.	.	.	32/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.817)	.	deleterious(0.02)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Pro1523Ser,ENST00000261383,;DNAH3,missense_variant,p.Pro1523Ser,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;DNAH3,upstream_gene_variant,,ENST00000572931,;	4567	78	92	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29908302	29908302	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	37	0	ENST00000308713.5:c.352A>G	p.Thr118Ala	p.T118A	ENST00000308713	NM_001114099.2	118	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10659.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGTGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325	.	.	ENSP00000312550	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	tolerated(0.79)	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Thr118Ala,ENST00000308713,;SEZ6L2,missense_variant,p.Thr118Ala,ENST00000346932,;SEZ6L2,missense_variant,p.Thr74Ala,ENST00000537485,;SEZ6L2,missense_variant,p.Thr74Ala,ENST00000568380,;SEZ6L2,intron_variant,,ENST00000350527,;ASPHD1,upstream_gene_variant,,ENST00000308748,;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;ASPHD1,upstream_gene_variant,,ENST00000566693,;ASPHD1,upstream_gene_variant,,ENST00000414952,;	880	37	43	SUCCESS
PRSS8	5652	.	GRCh37	16	31144008	31144008	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	48	0	ENST00000317508.6:c.533C>G	p.Pro178Arg	p.P178R	ENST00000317508	NM_002773.3	178	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS45469.1	533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGGGGCC	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24253:SF0,hmmpanther:PTHR24253,PROSITE_profiles:PS50240	.	.	ENSP00000319730	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000317508	Transcript	.	.	ENSG00000052344	9491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.03)	.	PRSS8_HUMAN	PRSS8	HGNC	.	.	UPI0000046DCB	SNV	PRSS8,missense_variant,p.Pro124Arg,ENST00000568261,;PRSS8,missense_variant,p.Pro178Arg,ENST00000317508,;PRSS8,missense_variant,p.Pro142Arg,ENST00000567531,;PRSS8,downstream_gene_variant,,ENST00000567797,;KAT8,downstream_gene_variant,,ENST00000543774,;KAT8,downstream_gene_variant,,ENST00000537402,;KAT8,downstream_gene_variant,,ENST00000448516,;KAT8,downstream_gene_variant,,ENST00000219797,;RP11-388M20.2,downstream_gene_variant,,ENST00000563605,;PRSS8,downstream_gene_variant,,ENST00000567833,;KAT8,downstream_gene_variant,,ENST00000538768,;KAT8,downstream_gene_variant,,ENST00000573144,;PRSS8,downstream_gene_variant,,ENST00000564025,;	797	48	74	SUCCESS
RBL2	5934	.	GRCh37	16	53498217	53498217	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	117	0	ENST00000262133.6:c.1640C>T	p.Pro547Leu	p.P547L	ENST00000262133	NM_005611.3	547	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS10748.1	1640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCTGGGA	NONE	.	.	hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Gene3D:1.10.472.10,Pfam_domain:PF01858,Superfamily_domains:SSF47954	.	.	ENSP00000262133	.	12/22	.	.	.	.	.	.	.	.	COSM1563075	12/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.248)	.	tolerated(0.05)	1	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,missense_variant,p.Pro331Leu,ENST00000544545,;RBL2,missense_variant,p.Pro547Leu,ENST00000262133,;RBL2,missense_variant,p.Pro473Leu,ENST00000544405,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,non_coding_transcript_exon_variant,,ENST00000561512,;RBL2,non_coding_transcript_exon_variant,,ENST00000562850,;RBL2,upstream_gene_variant,,ENST00000562837,;	1777	117	92	SUCCESS
EDC4	23644	.	GRCh37	16	67907167	67907167	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	73	0	ENST00000358933.5:c.3G>A	p.Met1?	p.M1?	ENST00000358933	NM_014329.4	1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10849.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATGGCCTC	NONE	.	.	hmmpanther:PTHR15598	.	.	ENSP00000351811	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000358933	Transcript	.	.	ENSG00000038358	17157	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious_low_confidence(0)	.	EDC4_HUMAN	EDC4	HGNC	.	.	UPI0000141377	SNV	EDC4,start_lost,p.Met1?,ENST00000358933,;NUTF2,downstream_gene_variant,,ENST00000567105,;NUTF2,downstream_gene_variant,,ENST00000219169,;NUTF2,downstream_gene_variant,,ENST00000568396,;NUTF2,downstream_gene_variant,,ENST00000569436,;AC040162.1,upstream_gene_variant,,ENST00000408599,;EDC4,upstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;NUTF2,downstream_gene_variant,,ENST00000568390,;EDC4,upstream_gene_variant,,ENST00000536072,;NUTF2,downstream_gene_variant,,ENST00000587481,;EDC4,upstream_gene_variant,,ENST00000573992,;NUTF2,downstream_gene_variant,,ENST00000568233,;NUTF2,downstream_gene_variant,,ENST00000570026,;	242	73	77	SUCCESS
ZNF469	84627	.	GRCh37	16	88496738	88496738	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	342	235	575	0	ENST00000437464.1:c.2860T>C	p.Phe954Leu	p.F954L	ENST00000437464	NM_001127464.1	954	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS45544.1	2860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGTTCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Phe954Leu,ENST00000565624,;ZNF469,missense_variant,p.Phe954Leu,ENST00000437464,;	2860	575	577	SUCCESS
GRIN2A	2903	.	GRCh37	16	9943750	9943750	+	synonymous_variant	Silent	SNP	G	G	A	rs1231295919	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	82	0	ENST00000330684.3:c.1191C>T	p.Ser397=	p.S397=	ENST00000330684	NM_001134407.1	397	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10539.1	1191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGGAGAA	BUFFER|p.P401L|c.1202C>T|3	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107	.	.	ENSP00000379818	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,synonymous_variant,p.%3D,ENST00000396573,;GRIN2A,synonymous_variant,p.%3D,ENST00000404927,;GRIN2A,synonymous_variant,p.%3D,ENST00000535259,;GRIN2A,synonymous_variant,p.%3D,ENST00000330684,;GRIN2A,synonymous_variant,p.%3D,ENST00000396575,;GRIN2A,synonymous_variant,p.%3D,ENST00000562109,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566683,;	1501	82	83	SUCCESS
FLCN	201163	.	GRCh37	17	17127383	17127385	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-	rs786203218	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	GAA	GAA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	40	107	0	ENST00000285071.4:c.469_471del	p.Phe157del	p.F157del	ENST00000285071	NM_144997.5	157	TTC/-	0	.	.	.	.	.	-	F/-	protein_coding	YES	CCDS32579.1	469-471	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGATGAAGAAGG	NONE	.	.	hmmpanther:PTHR31441,Pfam_domain:PF11704	.	.	ENSP00000285071	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000285071	Transcript	.	.	ENSG00000154803	27310	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FLCN_HUMAN	FLCN	HGNC	J3QQZ7_HUMAN,C9J4C4_HUMAN	.	UPI0000071D7A	deletion	FLCN,inframe_deletion,p.Phe157del,ENST00000285071,;FLCN,inframe_deletion,p.Phe104del,ENST00000417064,;FLCN,inframe_deletion,p.Phe157del,ENST00000389169,;FLCN,downstream_gene_variant,,ENST00000461699,;FLCN,non_coding_transcript_exon_variant,,ENST00000480316,;RP11-45M22.4,intron_variant,,ENST00000427497,;FLCN,downstream_gene_variant,,ENST00000389171,;FLCN,upstream_gene_variant,,ENST00000466317,;FLCN,downstream_gene_variant,,ENST00000389168,;FLCN,upstream_gene_variant,,ENST00000577591,;	924-926	107	62	SUCCESS
MYO15A	51168	.	GRCh37	17	18023832	18023832	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1409238455	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	175	322	0	ENST00000205890.5:c.1718C>T	p.Ala573Val	p.A573V	ENST00000205890	NM_016239.3	573	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42271.1	1718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGCGCGGT	NONE	.	.	.	.	.	ENSP00000205890	.	2/66	.	.	.	.	.	.	.	.	.	2/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,missense_variant,p.Ala573Val,ENST00000205890,;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;	2056	322	243	SUCCESS
SLC47A1	55244	.	GRCh37	17	19454772	19454772	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780179114	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	24	68	0	ENST00000270570.4:c.534G>T	p.Leu178Phe	p.L178F	ENST00000270570	NM_018242.2	178	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS11209.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTGCTCAA	NONE	byFrequency	.	hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF73,Pfam_domain:PF01554,TIGRFAM_domain:TIGR00797	.	.	ENSP00000270570	.	6/17	.	.	.	.	.	.	.	.	rs780179114	6/17	PASS	ENST00000270570	Transcript	.	.	ENSG00000142494	25588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	S47A1_HUMAN	SLC47A1	HGNC	B4E3B2_HUMAN,B4DPA7_HUMAN	.	UPI0000071042	SNV	SLC47A1,missense_variant,p.Leu155Phe,ENST00000436810,;SLC47A1,missense_variant,p.Cys30Phe,ENST00000571335,;SLC47A1,missense_variant,p.Leu178Phe,ENST00000270570,;SLC47A1,missense_variant,p.Leu178Phe,ENST00000395585,;SLC47A1,missense_variant,p.Leu178Phe,ENST00000457293,;SLC47A1,missense_variant,p.Leu178Phe,ENST00000542886,;SLC47A1,intron_variant,,ENST00000575023,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000584348,;SLC47A1,downstream_gene_variant,,ENST00000576095,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000497548,;SLC47A1,upstream_gene_variant,,ENST00000575377,;SLC47A1,upstream_gene_variant,,ENST00000495425,;SLC47A1,upstream_gene_variant,,ENST00000573009,;	620	68	31	SUCCESS
TAOK1	57551	.	GRCh37	17	27835056	27835056	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	51	181	0	ENST00000261716.3:c.1481T>G	p.Leu494Arg	p.L494R	ENST00000261716	NM_020791.2	494	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS32601.1	1481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTCAGAT	NONE	.	.	hmmpanther:PTHR24361:SF189,hmmpanther:PTHR24361	.	.	ENSP00000261716	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000261716	Transcript	.	.	ENSG00000160551	29259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.25)	.	TAOK1_HUMAN	TAOK1	HGNC	J3QS76_HUMAN	.	UPI000004A033	SNV	TAOK1,missense_variant,p.Leu494Arg,ENST00000261716,;TAOK1,missense_variant,p.Leu494Arg,ENST00000536202,;TAOK1,non_coding_transcript_exon_variant,,ENST00000577583,;	2000	181	259	SUCCESS
KRT28	162605	.	GRCh37	17	38955938	38955938	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	48	92	0	ENST00000306658.7:c.208G>A	p.Ala70Thr	p.A70T	ENST00000306658	NM_181535.3	70	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11376.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGCAGCAT	NONE	.	.	hmmpanther:PTHR23239:SF145,hmmpanther:PTHR23239	.	.	ENSP00000305263	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000306658	Transcript	.	.	ENSG00000173908	30842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.45)	.	K1C28_HUMAN	KRT28	HGNC	.	.	UPI0000246D70	SNV	KRT28,missense_variant,p.Ala70Thr,ENST00000306658,;RP11-605F20.1,upstream_gene_variant,,ENST00000582101,;	274	92	156	SUCCESS
TMEM101	84336	.	GRCh37	17	42089361	42089361	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	52	0	ENST00000206380.3:c.709A>G	p.Met237Val	p.M237V	ENST00000206380	NM_032376.2	237	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS11474.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATCTGGT	NONE	.	.	hmmpanther:PTHR31034,hmmpanther:PTHR31034:SF1,Pfam_domain:PF15111	.	.	ENSP00000468025	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000589334	Transcript	.	.	ENSG00000091947	28653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.41)	.	TM101_HUMAN	TMEM101	HGNC	K7ERS4_HUMAN,K7EPU9_HUMAN,K7EM72_HUMAN,B4DFS4_HUMAN	.	UPI000006E158	SNV	TMEM101,missense_variant,p.Met237Val,ENST00000589334,;TMEM101,missense_variant,p.Met179Val,ENST00000542039,;TMEM101,missense_variant,p.Met237Val,ENST00000206380,;TMEM101,downstream_gene_variant,,ENST00000587529,;TMEM101,downstream_gene_variant,,ENST00000590905,;NAGS,downstream_gene_variant,,ENST00000293404,;NAGS,downstream_gene_variant,,ENST00000589767,;TMEM101,downstream_gene_variant,,ENST00000586174,;TMEM101,downstream_gene_variant,,ENST00000592127,;TMEM101,downstream_gene_variant,,ENST00000585950,;NAGS,downstream_gene_variant,,ENST00000592915,;	1025	52	99	SUCCESS
STRADA	92335	.	GRCh37	17	61781755	61781755	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	24	47	0	ENST00000336174.6:c.1046C>T	p.Ser349Phe	p.S349F	ENST00000336174	NM_001003787.2	349	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS32703.1	1046	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGAGAAG	NONE	.	.	Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361,PROSITE_profiles:PS50011	.	.	ENSP00000336655	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000336174	Transcript	.	.	ENSG00000266173	30172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STRAA_HUMAN	STRADA	HGNC	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN	.	UPI000013CBBE	SNV	STRADA,missense_variant,p.Ser349Phe,ENST00000336174,;STRADA,missense_variant,p.Ser312Phe,ENST00000392950,;STRADA,missense_variant,p.Ser21Phe,ENST00000582026,;STRADA,missense_variant,p.Ser291Phe,ENST00000375840,;STRADA,3_prime_UTR_variant,,ENST00000245865,;STRADA,3_prime_UTR_variant,,ENST00000579340,;STRADA,intron_variant,,ENST00000582137,;STRADA,intron_variant,,ENST00000447001,;LIMD2,upstream_gene_variant,,ENST00000578402,;LIMD2,upstream_gene_variant,,ENST00000584645,;STRADA,downstream_gene_variant,,ENST00000578801,;LIMD2,upstream_gene_variant,,ENST00000578061,;LIMD2,upstream_gene_variant,,ENST00000578993,;LIMD2,upstream_gene_variant,,ENST00000583211,;STRADA,downstream_gene_variant,,ENST00000578008,;LIMD2,upstream_gene_variant,,ENST00000259006,;STRADA,non_coding_transcript_exon_variant,,ENST00000580039,;STRADA,downstream_gene_variant,,ENST00000581505,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,non_coding_transcript_exon_variant,,ENST00000583085,;LIMD2,upstream_gene_variant,,ENST00000579814,;LIMD2,upstream_gene_variant,,ENST00000578067,;LIMD2,upstream_gene_variant,,ENST00000580222,;STRADA,downstream_gene_variant,,ENST00000581243,;	1159	47	43	SUCCESS
CDK3	1018	.	GRCh37	17	73999349	73999349	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764342540	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	28	105	0	ENST00000425876.2:c.662C>G	p.Thr221Arg	p.T221R	ENST00000425876		221	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS11736.1	662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACACCCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF173,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000410561	.	6/7	.	.	.	.	.	.	.	.	rs764342540	6/7	PASS	ENST00000425876	Transcript	.	.	ENSG00000250506	1772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CDK3_HUMAN	CDK3	HGNC	K7ELV5_HUMAN,K7EJ83_HUMAN	.	UPI0000113587	SNV	CDK3,missense_variant,p.Thr221Arg,ENST00000448471,;CDK3,missense_variant,p.Thr221Arg,ENST00000425876,;CDK3,missense_variant,p.Thr181Arg,ENST00000586261,;EVPL,downstream_gene_variant,,ENST00000589231,;EVPL,downstream_gene_variant,,ENST00000586740,;TEN1,downstream_gene_variant,,ENST00000588202,;EVPL,downstream_gene_variant,,ENST00000301607,;CDK3,downstream_gene_variant,,ENST00000588812,;TEN1,downstream_gene_variant,,ENST00000416485,;TEN1,downstream_gene_variant,,ENST00000397640,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000587569,;	750	105	110	SUCCESS
LAMA1	284217	.	GRCh37	18	6965284	6965306	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TACCTTGCTTCCGGTTTCGCTGG	TACCTTGCTTCCGGTTTCGCTGG	-	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	TACCTTGCTTCCGGTTTCGCTGG	TACCTTGCTTCCGGTTTCGCTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	110	0	ENST00000389658.3:c.7176_7195+3del		p.X2392_splice	ENST00000389658	NM_005559.3	2392		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32787.1	7176-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCCCTACCTTGCTTCCGGTTTCGCTGGAAGGC	NONE	.	.	.	.	.	ENSP00000374309	.	50/63	.	.	.	.	.	.	.	.	.	50/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	HIGH	50/62	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	deletion	LAMA1,splice_donor_variant,,ENST00000389658,;LAMA1,splice_donor_variant,,ENST00000488064,;LAMA1,splice_donor_variant,,ENST00000490190,;LAMA1,splice_donor_variant,,ENST00000579014,;LAMA1,downstream_gene_variant,,ENST00000484335,;LAMA1,upstream_gene_variant,,ENST00000488089,;	7270-?	110	84	SUCCESS
OR7A5	26659	.	GRCh37	19	14938490	14938490	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	89	202	0	ENST00000322301.3:c.564T>G	p.Ala188=	p.A188=	ENST00000322301		188	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS12318.1	564	RADIA|MUTECT|MUSE	.	GAACAAGCAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF219,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000316955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322301	Transcript	.	.	ENSG00000188269	8368	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR7A5_HUMAN	OR7A5	HGNC	.	.	UPI0000041DE3	SNV	OR7A5,synonymous_variant,p.%3D,ENST00000594432,;OR7A5,synonymous_variant,p.%3D,ENST00000322301,;OR7A5,intron_variant,,ENST00000599549,;OR7A5,intron_variant,,ENST00000595922,;OR7A5,intron_variant,,ENST00000601611,;	652	202	225	SUCCESS
OR7A5	26659	.	GRCh37	19	14938512	14938512	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	88	218	0	ENST00000322301.3:c.542T>G	p.Leu181Arg	p.L181R	ENST00000322301		181	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS12318.1	542	RADIA|MUTECT|MUSE	.	GATTAAGTTCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF219,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000316955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322301	Transcript	.	.	ENSG00000188269	8368	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.973)	.	deleterious_low_confidence(0)	.	OR7A5_HUMAN	OR7A5	HGNC	.	.	UPI0000041DE3	SNV	OR7A5,missense_variant,p.Leu181Arg,ENST00000594432,;OR7A5,missense_variant,p.Leu181Arg,ENST00000322301,;OR7A5,intron_variant,,ENST00000599549,;OR7A5,intron_variant,,ENST00000595922,;OR7A5,intron_variant,,ENST00000601611,;	630	218	224	SUCCESS
CEACAM1	634	.	GRCh37	19	43023248	43023249	+	inframe_insertion	In_Frame_Ins	INS	-	-	AGACTC	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	59	183	0	ENST00000161559.6:c.1092_1097dup	p.Ser365_Leu366dup	p.S365_L366dup	ENST00000161559	NM_001712.4	365	ctc/ctGAGTCTc	0	.	.	.	.	.	AGACTC	L/LSL	protein_coding	YES	CCDS12609.1	1097-1098	INDELOCATOR*|VARSCANI*|PINDEL	.	GACGGGAGACT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF118,hmmpanther:PTHR19955,PROSITE_profiles:PS50835	.	.	ENSP00000161559	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000161559	Transcript	.	.	ENSG00000079385	1814	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CEAM1_HUMAN	CEACAM1	HGNC	M0R2K4_HUMAN,M0R109_HUMAN	.	UPI0000127483	insertion	CEACAM1,inframe_insertion,p.Ser365_Leu366dup,ENST00000161559,;CEACAM1,inframe_insertion,p.Ser365_Leu366dup,ENST00000403444,;CEACAM1,intron_variant,,ENST00000599389,;CEACAM1,intron_variant,,ENST00000403461,;CEACAM1,intron_variant,,ENST00000308072,;CEACAM1,intron_variant,,ENST00000351134,;CEACAM1,intron_variant,,ENST00000352591,;CEACAM1,intron_variant,,ENST00000358394,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000457234,;LIPE-AS1,intron_variant,,ENST00000594624,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000377806,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000344391,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000485605,;CEACAM1,downstream_gene_variant,,ENST00000403136,;	1232-1233	183	145	SUCCESS
PVR	5817	.	GRCh37	19	45153129	45153129	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	73	0	ENST00000425690.3:c.476A>G	p.Glu159Gly	p.E159G	ENST00000425690	NM_006505.3	159	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12640.1	476	RADIA|MUTECT|MUSE	.	TGGAGAGCCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF54,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000402060	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000425690	Transcript	.	.	ENSG00000073008	9705	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.093)	.	tolerated(0.11)	.	PVR_HUMAN	PVR	HGNC	.	.	UPI000004A2C1	SNV	PVR,missense_variant,p.Glu159Gly,ENST00000406449,;PVR,missense_variant,p.Glu159Gly,ENST00000425690,;PVR,missense_variant,p.Glu159Gly,ENST00000344956,;PVR,missense_variant,p.Glu159Gly,ENST00000403059,;PVR,upstream_gene_variant,,ENST00000587785,;CTB-171A8.1,intron_variant,,ENST00000590796,;PVR,3_prime_UTR_variant,,ENST00000187830,;	775	73	52	SUCCESS
PVR	5817	.	GRCh37	19	45153140	45153140	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	70	0	ENST00000425690.3:c.487A>C	p.Met163Leu	p.M163L	ENST00000425690	NM_006505.3	163	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS12640.1	487	RADIA|MUTECT|MUSE	.	TGCCCATGGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF54,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000402060	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000425690	Transcript	.	.	ENSG00000073008	9705	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	deleterious(0)	.	PVR_HUMAN	PVR	HGNC	.	.	UPI000004A2C1	SNV	PVR,missense_variant,p.Met163Leu,ENST00000406449,;PVR,missense_variant,p.Met163Leu,ENST00000425690,;PVR,missense_variant,p.Met163Leu,ENST00000344956,;PVR,missense_variant,p.Met163Leu,ENST00000403059,;PVR,upstream_gene_variant,,ENST00000587785,;CTB-171A8.1,intron_variant,,ENST00000590796,;PVR,3_prime_UTR_variant,,ENST00000187830,;	786	70	54	SUCCESS
SIGLEC6	946	.	GRCh37	19	52031035	52031035	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	84	0	ENST00000425629.3:c.1154A>C	p.Asp385Ala	p.D385A	ENST00000425629	NM_001245.5	385	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS12834.3	1154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATCCGTG	NONE	.	.	.	.	.	ENSP00000401502	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.56)	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,missense_variant,p.Asp333Ala,ENST00000436458,;SIGLEC6,missense_variant,p.Asp385Ala,ENST00000425629,;SIGLEC6,missense_variant,p.Asp369Ala,ENST00000346477,;SIGLEC6,intron_variant,,ENST00000391797,;SIGLEC6,intron_variant,,ENST00000359982,;SIGLEC6,intron_variant,,ENST00000343300,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000474054,;SIGLEC6,downstream_gene_variant,,ENST00000489837,;SIGLEC6,downstream_gene_variant,,ENST00000496422,;	1309	84	71	SUCCESS
FPR2	2358	.	GRCh37	19	52272248	52272248	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1436884570	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	88	0	ENST00000340023.6:c.337G>A	p.Val113Ile	p.V113I	ENST00000340023	NM_001005738.1	113	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS12840.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF16,hmmpanther:PTHR24225,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00526	.	.	ENSP00000468897	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000598776	Transcript	.	.	ENSG00000171049	3827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.441)	.	tolerated(0.23)	.	FPR2_HUMAN	FPR2	HGNC	M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN	.	UPI00000012D0	SNV	FPR2,missense_variant,p.Val113Ile,ENST00000599326,;FPR2,missense_variant,p.Val113Ile,ENST00000340023,;FPR2,missense_variant,p.Val113Ile,ENST00000598953,;FPR2,missense_variant,p.Val113Ile,ENST00000600722,;FPR2,missense_variant,p.Val113Ile,ENST00000598776,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;	1109	88	89	SUCCESS
ZNF665	79788	.	GRCh37	19	53667735	53667735	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	41	0	ENST00000600412.1:c.1813G>C	p.Ala605Pro	p.A605P	ENST00000600412		605	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS46169.1	2008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCAAGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396424	Transcript	.	.	ENSG00000197497	25885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	tolerated(0.09)	.	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,missense_variant,p.Ala670Pro,ENST00000396424,;ZNF665,missense_variant,p.Ala605Pro,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	2098	41	42	SUCCESS
KIR2DL1	3802	.	GRCh37	19	55284986	55284986	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs687485	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	78	0	ENST00000336077.6:c.272C>T	p.Thr91Met	p.T91M	ENST00000336077	NM_014218.2	91	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12904.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACGCAAG	BUFFER|p.R89H|c.266G>A|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000336769	.	3/8	.	.	.	.	.	.	.	.	COSM3404605	3/8	PASS	ENST00000336077	Transcript	.	.	ENSG00000125498	6329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.024)	.	tolerated(0.07)	1	KI2L1_HUMAN	KIR2DL1	HGNC	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN	.	UPI00001195F7	SNV	KIR2DL1,missense_variant,p.Thr91Met,ENST00000336077,;KIR2DL1,missense_variant,p.Thr91Met,ENST00000291633,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	312	78	78	SUCCESS
SSC5D	284297	.	GRCh37	19	56000833	56000833	+	synonymous_variant	Silent	SNP	C	C	T	rs967385468	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	32	0	ENST00000389623.6:c.165C>T	p.Ala55=	p.A55=	ENST00000389623	NM_001144950.1	55	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46196.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCGTGGC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF21,PROSITE_patterns:PS00420,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000374274	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000389623	Transcript	.	.	ENSG00000179954	26641	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCRL_HUMAN	SSC5D	HGNC	M0QZ17_HUMAN	.	UPI000192952A	SNV	SSC5D,synonymous_variant,p.%3D,ENST00000594321,;SSC5D,synonymous_variant,p.%3D,ENST00000389623,;SSC5D,synonymous_variant,p.%3D,ENST00000587166,;NAT14,downstream_gene_variant,,ENST00000591590,;NAT14,downstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000391718,;SSC5D,upstream_gene_variant,,ENST00000589020,;NAT14,downstream_gene_variant,,ENST00000587400,;ZNF628,downstream_gene_variant,,ENST00000598519,;NAT14,downstream_gene_variant,,ENST00000205194,;NAT14,downstream_gene_variant,,ENST00000592719,;SSC5D,non_coding_transcript_exon_variant,,ENST00000588254,;	188	32	43	SUCCESS
HRNR	388697	.	GRCh37	1	152187123	152187123	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1168763088	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	249	44	170	0	ENST00000368801.2:c.6982A>G	p.Ser2328Gly	p.S2328G	ENST00000368801	NM_001009931.2	2328	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS30859.1	6982	RADIA|MUSE|VARSCANS	.	GCCACTGCTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Ser2328Gly,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7058	170	293	SUCCESS
TRIM46	80128	.	GRCh37	1	155147913	155147913	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	55	109	0	ENST00000334634.4:c.115A>C	p.Met39Leu	p.M39L	ENST00000334634	NM_001282378.1	39	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS1097.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGATGTAC	NONE	.	.	hmmpanther:PTHR24103:SF27,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Pfam_domain:PF00097,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000334657	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000334634	Transcript	.	.	ENSG00000163462	19019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(1)	.	TRI46_HUMAN	TRIM46	HGNC	F5GYK0_HUMAN	.	UPI000022B316	SNV	TRIM46,missense_variant,p.Met16Leu,ENST00000368382,;TRIM46,missense_variant,p.Met39Leu,ENST00000392451,;TRIM46,missense_variant,p.Met39Leu,ENST00000334634,;TRIM46,missense_variant,p.Met46Leu,ENST00000543729,;TRIM46,missense_variant,p.Met39Leu,ENST00000368383,;TRIM46,missense_variant,p.Met39Leu,ENST00000368385,;TRIM46,intron_variant,,ENST00000545012,;RP11-201K10.3,intron_variant,,ENST00000473363,;KRTCAP2,upstream_gene_variant,,ENST00000295682,;TRIM46,non_coding_transcript_exon_variant,,ENST00000474430,;TRIM46,non_coding_transcript_exon_variant,,ENST00000468878,;TRIM46,non_coding_transcript_exon_variant,,ENST00000464760,;KRTCAP2,upstream_gene_variant,,ENST00000492892,;KRTCAP2,upstream_gene_variant,,ENST00000463527,;KRTCAP2,upstream_gene_variant,,ENST00000461136,;KRTCAP2,upstream_gene_variant,,ENST00000487350,;KRTCAP2,upstream_gene_variant,,ENST00000491084,;KRTCAP2,upstream_gene_variant,,ENST00000490672,;KRTCAP2,upstream_gene_variant,,ENST00000471891,;KRTCAP2,upstream_gene_variant,,ENST00000482246,;KRTCAP2,upstream_gene_variant,,ENST00000497317,;	115	109	196	SUCCESS
CD1B	910	.	GRCh37	1	158301196	158301196	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	72	179	0	ENST00000368168.3:c.18T>A	p.Phe6Leu	p.F6L	ENST00000368168	NM_001764.2	6	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS1176.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGAAATGG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16675:SF130,hmmpanther:PTHR16675	.	.	ENSP00000357150	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000368168	Transcript	.	.	ENSG00000158485	1635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	CD1B_HUMAN	CD1B	HGNC	Q9UN97_HUMAN,B4E0D3_HUMAN	.	UPI0000127333	SNV	CD1B,missense_variant,p.Phe6Leu,ENST00000368168,;CD1B,upstream_gene_variant,,ENST00000451207,;	126	179	259	SUCCESS
APOBEC4	403314	.	GRCh37	1	183617328	183617328	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs576114883	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	46	90	0	ENST00000308641.4:c.589G>C	p.Val197Leu	p.V197L	ENST00000308641	NM_203454.2	197	Gtt/Ctt	0	.	T:0	.	T:0	.	G	V/L	protein_coding	YES	CCDS1358.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACAGAAT	NONE	by1000G	.	Pfam_domain:PF08210	T:0	.	ENSP00000310622	T:0	2/2	.	.	.	.	.	.	.	.	rs576114883,COSM463544	2/2	PASS	ENST00000308641	Transcript	.	T:0.0002	ENSG00000173627	32152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	T:0.001	tolerated(1)	0,1	ABEC4_HUMAN	APOBEC4	HGNC	.	.	UPI0000071339	SNV	APOBEC4,missense_variant,p.Val197Leu,ENST00000308641,;RGL1,intron_variant,,ENST00000304685,;RGL1,intron_variant,,ENST00000536277,;APOBEC4,intron_variant,,ENST00000481562,;	861	90	141	SUCCESS
AKR7A3	22977	.	GRCh37	1	19612721	19612721	+	synonymous_variant	Silent	SNP	C	C	T	rs141897650	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	91	241	0	ENST00000361640.4:c.360G>A	p.Pro120=	p.P120=	ENST00000361640	NM_012067.2	120	ccG/ccA	0	T:0.0011	.	.	.	.	T	P	protein_coding	YES	CCDS193.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCGGGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11732:SF186,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430	.	T:0	ENSP00000355377	.	2/7	.	.	.	.	.	.	.	.	rs141897650	2/7	PASS	ENST00000361640	Transcript	.	.	ENSG00000162482	390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARK73_HUMAN	AKR7A3	HGNC	.	.	UPI0000125D48	SNV	AKR7A3,synonymous_variant,p.%3D,ENST00000361640,;	901	241	222	SUCCESS
CACNA1S	779	.	GRCh37	1	201031128	201031128	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	110	148	1	ENST00000362061.3:c.2997T>C	p.Asn999=	p.N999=	ENST00000362061	NM_000069.2	999	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS1407.1	2997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACATTGTC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	24/44	.	.	.	.	.	.	.	.	.	24/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,synonymous_variant,p.%3D,ENST00000367338,;CACNA1S,synonymous_variant,p.%3D,ENST00000362061,;	3224	150	212	SUCCESS
RNPEP	6051	.	GRCh37	1	201965426	201965426	+	intron_variant	Intron	DEL	A	A	-	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	65	83	0	ENST00000295640.4:c.854+37del		p.*285*	ENST00000295640	NM_020216.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1418.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGTTAAACTG	NONE	.	.	.	.	.	ENSP00000295640	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295640	Transcript	.	.	ENSG00000176393	10078	2	.	MODIFIER	4/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMPB_HUMAN	RNPEP	HGNC	.	.	UPI00000463FA	deletion	RNPEP,intron_variant,,ENST00000449524,;RNPEP,intron_variant,,ENST00000447312,;RNPEP,intron_variant,,ENST00000367286,;RNPEP,intron_variant,,ENST00000295640,;RP11-465N4.5,non_coding_transcript_exon_variant,,ENST00000608886,;RP11-465N4.4,downstream_gene_variant,,ENST00000419190,;RP11-465N4.4,downstream_gene_variant,,ENST00000415582,;RNPEP,non_coding_transcript_exon_variant,,ENST00000479726,;RNPEP,non_coding_transcript_exon_variant,,ENST00000471105,;RNPEP,intron_variant,,ENST00000478617,;RNPEP,intron_variant,,ENST00000487116,;RNPEP,intron_variant,,ENST00000492587,;RNPEP,intron_variant,,ENST00000492849,;RNPEP,intron_variant,,ENST00000481780,;RNPEP,upstream_gene_variant,,ENST00000464707,;	.	83	172	SUCCESS
LGR6	59352	.	GRCh37	1	202163206	202163206	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779402458	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	16	11	0	ENST00000367278.3:c.89C>A	p.Pro30Gln	p.P30Q	ENST00000367278	NM_001017403.1	30	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS30971.1	89	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCCGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12	.	.	ENSP00000356247	.	1/18	.	.	.	.	.	.	.	.	rs779402458	1/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.44)	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,missense_variant,p.Pro30Gln,ENST00000367278,;snoU13,downstream_gene_variant,,ENST00000458934,;PTPRVP,downstream_gene_variant,,ENST00000482597,;PTPRVP,downstream_gene_variant,,ENST00000490575,;PTPRVP,downstream_gene_variant,,ENST00000490225,;	178	11	25	SUCCESS
NUP133	55746	.	GRCh37	1	229633911	229633911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	43	108	0	ENST00000261396.3:c.791G>T	p.Gly264Val	p.G264V	ENST00000261396	NM_018230.2	264	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1579.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCCAAAA	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Gly248Val,ENST00000537506,;NUP133,missense_variant,p.Gly264Val,ENST00000261396,;NUP133,downstream_gene_variant,,ENST00000366678,;	883	108	154	SUCCESS
NUP133	55746	.	GRCh37	1	229633912	229633912	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	44	108	0	ENST00000261396.3:c.790G>T	p.Gly264Ter	p.G264*	ENST00000261396	NM_018230.2	264	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS1579.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCAAAAA	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	6/26	.	.	.	.	.	.	.	.	COSM300541	6/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,stop_gained,p.Gly248Ter,ENST00000537506,;NUP133,stop_gained,p.Gly264Ter,ENST00000261396,;NUP133,downstream_gene_variant,,ENST00000366678,;	882	108	155	SUCCESS
CEP170	9859	.	GRCh37	1	243328222	243328222	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	241	316	0	ENST00000366542.1:c.3040A>T	p.Arg1014Ter	p.R1014*	ENST00000366542	NM_014812.2	1014	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS44339.1	3040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTCCCAC	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,Pfam_domain:PF15308	.	.	ENSP00000355500	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000366542	Transcript	.	.	ENSG00000143702	28920	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE170_HUMAN	CEP170	HGNC	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN	.	UPI0000470238	SNV	CEP170,stop_gained,p.Arg978Ter,ENST00000336415,;CEP170,stop_gained,p.Arg916Ter,ENST00000366544,;CEP170,stop_gained,p.Arg916Ter,ENST00000366543,;CEP170,stop_gained,p.Arg1014Ter,ENST00000366542,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,intron_variant,,ENST00000422938,;RP11-261C10.4,intron_variant,,ENST00000437499,;CEP170,non_coding_transcript_exon_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000461671,;	3092	316	425	SUCCESS
OR2W5	0	.	GRCh37	1	247655265	247655265	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	65	154	0	ENST00000530852.2:n.896A>G		p.*299*	ENST00000530852				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE	.	TCTACACCATC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530852	Transcript	.	.	ENSG00000203664	15424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OR2W5	HGNC	.	.	.	SNV	OR2W5,non_coding_transcript_exon_variant,,ENST00000522351,;OR2W5,non_coding_transcript_exon_variant,,ENST00000530852,;OR2W5,non_coding_transcript_exon_variant,,ENST00000366492,;	896	154	225	SUCCESS
GCSAML	148823	.	GRCh37	1	247712398	247712398	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs776918194	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	32	0	ENST00000366488.4:c.-96C>T		p.*32*	ENST00000366488	NM_145278.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAACGTCCT	NONE	byFrequency	.	.	.	.	ENSP00000355444	.	1/5	.	.	.	.	.	.	.	.	rs776918194	1/5	PASS	ENST00000366488	Transcript	.	.	ENSG00000169224	29583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSAML_HUMAN	GCSAML	HGNC	E9PRX8_HUMAN,E9PR51_HUMAN,E9PLW0_HUMAN	.	UPI000004EBD8	SNV	GCSAML,synonymous_variant,p.%3D,ENST00000366490,;GCSAML,5_prime_UTR_variant,,ENST00000366489,;GCSAML,5_prime_UTR_variant,,ENST00000366491,;GCSAML,5_prime_UTR_variant,,ENST00000366488,;GCSAML,intron_variant,,ENST00000527084,;GCSAML,intron_variant,,ENST00000527541,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000529512,;GCSAML,upstream_gene_variant,,ENST00000536561,;GCSAML,non_coding_transcript_exon_variant,,ENST00000531662,;	9	32	61	SUCCESS
RPA2	6118	.	GRCh37	1	28224153	28224153	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs766752338	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	50	155	0	ENST00000373912.3:c.399A>T	p.Arg133Ser	p.R133S	ENST00000373912	NM_002946.3	133	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS314.1	399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATCTCAG	NONE	.	.	hmmpanther:PTHR13989:SF10,hmmpanther:PTHR13989,Gene3D:2.40.50.140,Pfam_domain:PF01336,PIRSF_domain:PIRSF036949,Superfamily_domains:SSF50249	.	.	ENSP00000363021	.	5/9	.	.	.	.	.	.	.	.	rs766752338	5/9	PASS	ENST00000373912	Transcript	.	.	ENSG00000117748	10290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	deleterious(0)	.	RFA2_HUMAN	RPA2	HGNC	Q5TEJ0_HUMAN,B4DUL2_HUMAN,B4DQD9_HUMAN,B4DL94_HUMAN	.	UPI000013379F	SNV	RPA2,missense_variant,p.Arg221Ser,ENST00000313433,;RPA2,missense_variant,p.Arg137Ser,ENST00000444045,;RPA2,missense_variant,p.Arg141Ser,ENST00000373909,;RPA2,missense_variant,p.Arg133Ser,ENST00000373912,;RPA2,upstream_gene_variant,,ENST00000419958,;	699	155	128	SUCCESS
PHC2	1912	.	GRCh37	1	33832762	33832762	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	93	0	ENST00000257118.5:c.931A>C	p.Ser311Arg	p.S311R	ENST00000257118	NM_198040.2	311	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS378.1	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCTGAGCC	NONE	.	.	hmmpanther:PTHR12247:SF71,hmmpanther:PTHR12247	.	.	ENSP00000257118	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000257118	Transcript	.	.	ENSG00000134686	3183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0.01)	.	PHC2_HUMAN	PHC2	HGNC	.	.	UPI0000074391	SNV	PHC2,missense_variant,p.Ser282Arg,ENST00000431992,;PHC2,missense_variant,p.Ser311Arg,ENST00000419414,;PHC2,missense_variant,p.Ser311Arg,ENST00000257118,;PHC2,5_prime_UTR_variant,,ENST00000373416,;RP11-415J8.5,downstream_gene_variant,,ENST00000432703,;PHC2,downstream_gene_variant,,ENST00000468406,;	985	93	87	SUCCESS
NCDN	23154	.	GRCh37	1	36026670	36026670	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	66	0	ENST00000356090.4:c.918C>G	p.Phe306Leu	p.F306L	ENST00000356090	NM_001014839.1	306	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS392.1	918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCCTGGC	NONE	.	.	hmmpanther:PTHR13109,Pfam_domain:PF05536,Superfamily_domains:SSF48371	.	.	ENSP00000362340	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000373243	Transcript	.	.	ENSG00000020129	17597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	tolerated(0.07)	.	NCDN_HUMAN	NCDN	HGNC	C9J5H8_HUMAN,B4DJ92_HUMAN	.	UPI000007147C	SNV	NCDN,missense_variant,p.Phe289Leu,ENST00000373253,;NCDN,missense_variant,p.Phe306Leu,ENST00000373243,;NCDN,missense_variant,p.Phe306Leu,ENST00000356090,;NCDN,upstream_gene_variant,,ENST00000423723,;KIAA0319L,upstream_gene_variant,,ENST00000469892,;NCDN,downstream_gene_variant,,ENST00000437806,;KIAA0319L,upstream_gene_variant,,ENST00000325722,;KIAA0319L,upstream_gene_variant,,ENST00000426982,;KIAA0319L,upstream_gene_variant,,ENST00000476329,;KIAA0319L,upstream_gene_variant,,ENST00000492888,;NCDN,downstream_gene_variant,,ENST00000459931,;KIAA0319L,upstream_gene_variant,,ENST00000473465,;KIAA0319L,upstream_gene_variant,,ENST00000478463,;KIAA0319L,upstream_gene_variant,,ENST00000482929,;KIAA0319L,upstream_gene_variant,,ENST00000470388,;	1301	66	71	SUCCESS
C1orf109	54955	.	GRCh37	1	38155511	38155511	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	48	0	ENST00000358011.4:c.42G>T	p.Leu14=	p.L14=	ENST00000358011	NM_017850.1	14	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS423.1	42	MUTECT|MUSE	.	TTCTTCAGCGC	NONE	.	.	hmmpanther:PTHR16234:SF4,hmmpanther:PTHR16234,Pfam_domain:PF15011	.	.	ENSP00000350704	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000358011	Transcript	.	.	ENSG00000116922	26039	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA109_HUMAN	C1orf109	HGNC	B7Z9X8_HUMAN,B4DRQ5_HUMAN	.	UPI00000736AB	SNV	C1orf109,synonymous_variant,p.%3D,ENST00000486637,;C1orf109,synonymous_variant,p.%3D,ENST00000491981,;C1orf109,synonymous_variant,p.%3D,ENST00000464085,;C1orf109,synonymous_variant,p.%3D,ENST00000477060,;C1orf109,synonymous_variant,p.%3D,ENST00000488137,;C1orf109,synonymous_variant,p.%3D,ENST00000358011,;C1orf109,synonymous_variant,p.%3D,ENST00000461359,;CDCA8,upstream_gene_variant,,ENST00000327331,;CDCA8,upstream_gene_variant,,ENST00000373055,;C1orf109,non_coding_transcript_exon_variant,,ENST00000472584,;C1orf109,non_coding_transcript_exon_variant,,ENST00000491797,;C1orf109,upstream_gene_variant,,ENST00000464178,;C1orf109,downstream_gene_variant,,ENST00000498448,;C1orf109,synonymous_variant,p.%3D,ENST00000494120,;	232	48	59	SUCCESS
GUCA2A	2980	.	GRCh37	1	42629120	42629120	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	110	1	ENST00000357001.2:c.237G>T	p.Lys79Asn	p.K79N	ENST00000357001	NM_033553.2	79	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS465.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCTTGAG	NONE	.	.	hmmpanther:PTHR11318,hmmpanther:PTHR11318:SF3,Pfam_domain:PF02058,Gene3D:1o8rA00,PIRSF_domain:PIRSF001849,Superfamily_domains:0041741,Prints_domain:PR00774	.	.	ENSP00000349493	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000357001	Transcript	.	.	ENSG00000197273	4682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	GUC2A_HUMAN	GUCA2A	HGNC	.	.	UPI000013CC23	SNV	GUCA2A,missense_variant,p.Lys79Asn,ENST00000357001,;	243	111	102	SUCCESS
C8A	731	.	GRCh37	1	57340763	57340763	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	64	0	ENST00000361249.3:c.313A>G	p.Thr105Ala	p.T105A	ENST00000361249	NM_000562.2	105	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS606.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGACAGGT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR19325:SF338,hmmpanther:PTHR19325,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57184,Prints_domain:PR00764	.	.	ENSP00000354458	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	deleterious(0)	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	SNV	C8A,missense_variant,p.Thr105Ala,ENST00000361249,;	409	64	69	SUCCESS
ZZZ3	26009	.	GRCh37	1	78098130	78098130	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	85	0	ENST00000370801.3:c.910T>C	p.Phe304Leu	p.F304L	ENST00000370801	NM_015534.4	304	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS677.1	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGGGCC	NONE	.	.	hmmpanther:PTHR22705	.	.	ENSP00000359837	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000370801	Transcript	.	.	ENSG00000036549	24523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.81)	.	ZZZ3_HUMAN	ZZZ3	HGNC	C9JUA4_HUMAN,C9J283_HUMAN	.	UPI0000074256	SNV	ZZZ3,missense_variant,p.Phe304Leu,ENST00000370801,;ZZZ3,intron_variant,,ENST00000370798,;ZZZ3,downstream_gene_variant,,ENST00000433749,;ZZZ3,downstream_gene_variant,,ENST00000414381,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,downstream_gene_variant,,ENST00000463166,;ZZZ3,upstream_gene_variant,,ENST00000481346,;	1386	85	61	SUCCESS
ABCA4	24	.	GRCh37	1	94466454	94466454	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	33	82	0	ENST00000370225.3:c.6417G>C	p.Arg2139=	p.R2139=	ENST00000370225	NM_000350.2	2139	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS747.1	6417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCGGGT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR01257,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000359245	.	47/50	.	.	.	.	.	.	.	.	.	47/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,synonymous_variant,p.%3D,ENST00000536513,;ABCA4,synonymous_variant,p.%3D,ENST00000370225,;ABCA4,synonymous_variant,p.%3D,ENST00000535881,;ABCA4,downstream_gene_variant,,ENST00000465352,;ABCA4,downstream_gene_variant,,ENST00000484388,;	6504	82	96	SUCCESS
ZNF337	26152	.	GRCh37	20	25655715	25655718	+	frameshift_variant	Frame_Shift_Del	DEL	GTAA	GTAA	-	rs762274922	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	GTAA	GTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	79	0	ENST00000252979.5:c.2206_2209del	p.Leu736ValfsTer38	p.L736Vfs*38	ENST00000252979	NM_015655.2	736	TTACgt/gt	0	.	.	.	.	.	-	LR/X	protein_coding	YES	CCDS13174.1	2206-2209	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCACGTAAGTGTC	NONE	.	.	Gene3D:3.30.160.60,hmmpanther:PTHR24381:SF22,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000365619	.	4/4	.	.	.	.	.	.	.	.	rs762274922	4/4	PASS	ENST00000376436	Transcript	.	.	ENSG00000130684	15809	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN337_HUMAN	ZNF337	HGNC	B3KPK8_HUMAN	.	UPI000013C35E	deletion	ZNF337,frameshift_variant,p.Leu736ValfsTer38,ENST00000252979,;ZNF337,frameshift_variant,p.Leu704ValfsTer?,ENST00000538750,;ZNF337,frameshift_variant,p.Leu736ValfsTer38,ENST00000376436,;ZNF337-AS1,splice_donor_variant,,ENST00000455791,;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337-AS1,downstream_gene_variant,,ENST00000420803,;ZNF337,downstream_gene_variant,,ENST00000481610,;MED28P7,upstream_gene_variant,,ENST00000456611,;	2746-2749	79	80	SUCCESS
TMC2	117532	.	GRCh37	20	2591139	2591139	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	61	100	0	ENST00000358864.1:c.1488C>T	p.Tyr496=	p.Y496=	ENST00000358864	NM_080751.2	496	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS13029.2	1488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTACCACCC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17	.	.	ENSP00000351732	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000358864	Transcript	.	.	ENSG00000149488	16527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC2_HUMAN	TMC2	HGNC	.	.	UPI0000246C98	SNV	TMC2,synonymous_variant,p.%3D,ENST00000358864,;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	1503	100	78	SUCCESS
SDC4	6385	.	GRCh37	20	43956037	43956037	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	54	0	ENST00000372733.3:c.464T>C	p.Ile155Thr	p.I155T	ENST00000372733	NM_002999.3	155	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS13350.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGATGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10915,Pfam_domain:PF01034	.	.	ENSP00000361818	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372733	Transcript	.	.	ENSG00000124145	10661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.08)	.	SDC4_HUMAN	SDC4	HGNC	B4E1S6_HUMAN	.	UPI000003B45C	SNV	SDC4,missense_variant,p.Ile155Thr,ENST00000372733,;SDC4,missense_variant,p.Ile83Thr,ENST00000537976,;	504	54	50	SUCCESS
PMEPA1	56937	.	GRCh37	20	56227494	56227494	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	55	0	ENST00000341744.3:c.479C>A	p.Pro160His	p.P160H	ENST00000341744	NM_020182.4	160	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS13463.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGGGTGGG	NONE	.	.	hmmpanther:PTHR16514,hmmpanther:PTHR16514:SF5	.	.	ENSP00000345826	.	4/4	.	.	.	.	.	.	.	.	COSM1681795	4/4	PASS	ENST00000341744	Transcript	.	.	ENSG00000124225	14107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PMEPA_HUMAN	PMEPA1	HGNC	.	.	UPI000004970A	SNV	PMEPA1,missense_variant,p.Pro110His,ENST00000265626,;PMEPA1,missense_variant,p.Pro160His,ENST00000341744,;PMEPA1,missense_variant,p.Pro110His,ENST00000395816,;PMEPA1,missense_variant,p.Pro125His,ENST00000347215,;PMEPA1,missense_variant,p.Pro110His,ENST00000395814,;PMEPA1,missense_variant,p.Pro217His,ENST00000395819,;PMEPA1,missense_variant,p.Pro132His,ENST00000414037,;	799	55	83	SUCCESS
CRLS1	54675	.	GRCh37	20	6012689	6012689	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	158	457	0	ENST00000378863.4:c.692A>G	p.Tyr231Cys	p.Y231C	ENST00000378863	NM_019095.4	231	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13096.1	692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTATGCCA	NONE	.	.	hmmpanther:PTHR14269	.	.	ENSP00000368140	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000378863	Transcript	.	.	ENSG00000088766	16148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	CRLS1_HUMAN	CRLS1	HGNC	.	.	UPI000003B001	SNV	CRLS1,missense_variant,p.Tyr132Cys,ENST00000378868,;CRLS1,missense_variant,p.Tyr231Cys,ENST00000378863,;CRLS1,synonymous_variant,p.%3D,ENST00000452938,;CRLS1,non_coding_transcript_exon_variant,,ENST00000478846,;CRLS1,non_coding_transcript_exon_variant,,ENST00000464921,;CRLS1,non_coding_transcript_exon_variant,,ENST00000489345,;	849	457	202	SUCCESS
LRRN4	164312	.	GRCh37	20	6022515	6022515	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	41	70	0	ENST00000378858.4:c.1376G>T	p.Gly459Val	p.G459V	ENST00000378858	NM_152611.4	459	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13097.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTCCTCGG	NONE	.	.	hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF1	.	.	ENSP00000368135	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378858	Transcript	.	.	ENSG00000125872	16208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.22)	.	LRRN4_HUMAN	LRRN4	HGNC	.	.	UPI000013CBD3	SNV	LRRN4,missense_variant,p.Gly459Val,ENST00000378858,;CRLS1,downstream_gene_variant,,ENST00000378868,;CRLS1,downstream_gene_variant,,ENST00000452938,;CRLS1,downstream_gene_variant,,ENST00000378863,;CRLS1,downstream_gene_variant,,ENST00000478846,;	1601	70	54	SUCCESS
OPRL1	4987	.	GRCh37	20	62729870	62729870	+	synonymous_variant	Silent	SNP	G	G	A	rs144338110	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	53	79	0	ENST00000336866.2:c.831G>A	p.Thr277=	p.T277=	ENST00000336866	NM_182647.2	277	acG/acA	0	T:0.0005	.	.	.	.	A	T	protein_coding	YES	CCDS13556.1	831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACGCCTGT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF11,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0	ENSP00000336764	.	6/6	.	.	.	.	.	.	.	.	rs144338110	6/6	PASS	ENST00000349451	Transcript	.	.	ENSG00000125510	8155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPRX_HUMAN	OPRL1	HGNC	.	.	UPI0000001C6D	SNV	OPRL1,synonymous_variant,p.%3D,ENST00000336866,;OPRL1,synonymous_variant,p.%3D,ENST00000355631,;OPRL1,synonymous_variant,p.%3D,ENST00000349451,;	1243	79	95	SUCCESS
POTEH	23784	.	GRCh37	22	16267071	16267071	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765774103	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	689	111	799	0	ENST00000343518.6:c.1378G>A	p.Gly460Arg	p.G460R	ENST00000343518	NM_001136213.1	460	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46658.1	1378	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCGTGCT	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	9/11	.	.	.	.	.	.	.	.	rs765774103,COSM394237	9/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.066)	.	tolerated(0.25)	0,1	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Gly460Arg,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1430	799	800	SUCCESS
CABIN1	23523	.	GRCh37	22	24494016	24494016	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	121	0	ENST00000263119.5:c.3978A>G	p.Ser1326=	p.S1326=	ENST00000263119	NM_012295.3	1326	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS13823.1	3978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAGCTGG	NONE	.	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	26/37	.	.	.	.	.	.	.	.	.	26/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,synonymous_variant,p.%3D,ENST00000398319,;CABIN1,synonymous_variant,p.%3D,ENST00000405822,;CABIN1,synonymous_variant,p.%3D,ENST00000263119,;KB-318B8.7,upstream_gene_variant,,ENST00000444093,;CABIN1,upstream_gene_variant,,ENST00000467937,;	4363	122	139	SUCCESS
PLA2G6	8398	.	GRCh37	22	38524361	38524361	+	synonymous_variant	Silent	SNP	G	G	A	rs375896475	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	74	0	ENST00000332509.3:c.1263C>T	p.Val421=	p.V421=	ENST00000332509	NM_003560.2	421	gtC/gtT	0	A:0	.	.	.	.	A	V	protein_coding	YES	CCDS13967.1	1263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGACCCC	NONE	.	.	hmmpanther:PTHR24139:SF27,hmmpanther:PTHR24139	.	A:0.0001	ENSP00000333142	.	9/17	.	.	.	.	.	.	.	.	rs375896475	9/17	PASS	ENST00000332509	Transcript	.	.	ENSG00000184381	9039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL9_HUMAN	PLA2G6	HGNC	M0R3D9_HUMAN,M0R1Q9_HUMAN,F8WEQ9_HUMAN	.	UPI00001310F3	SNV	PLA2G6,synonymous_variant,p.%3D,ENST00000427114,;PLA2G6,synonymous_variant,p.%3D,ENST00000332509,;PLA2G6,synonymous_variant,p.%3D,ENST00000452794,;PLA2G6,intron_variant,,ENST00000335539,;PLA2G6,intron_variant,,ENST00000402064,;PLA2G6,downstream_gene_variant,,ENST00000427453,;PLA2G6,downstream_gene_variant,,ENST00000452542,;PLA2G6,upstream_gene_variant,,ENST00000490473,;PLA2G6,synonymous_variant,p.%3D,ENST00000448094,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000480154,;PLA2G6,intron_variant,,ENST00000471636,;PLA2G6,upstream_gene_variant,,ENST00000491986,;PLA2G6,upstream_gene_variant,,ENST00000454670,;	1447	74	84	SUCCESS
ADSL	158	.	GRCh37	22	40742624	40742624	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs914054348	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	42	0	ENST00000216194.7:c.62A>G	p.Tyr21Cys	p.Y21C	ENST00000216194	NM_000026.2	21	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS14001.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTATGCCA	NONE	.	.	hmmpanther:PTHR11444,hmmpanther:PTHR11444:SF2,TIGRFAM_domain:TIGR00928,Gene3D:1.10.275.10,Superfamily_domains:SSF48557	.	.	ENSP00000216194	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000216194	Transcript	.	.	ENSG00000239900	291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	PUR8_HUMAN	ADSL	HGNC	B4DUM2_HUMAN	.	UPI0000132AC7	SNV	ADSL,missense_variant,p.Tyr21Cys,ENST00000454266,;ADSL,missense_variant,p.Tyr21Cys,ENST00000216194,;ADSL,missense_variant,p.Tyr21Cys,ENST00000342312,;ADSL,non_coding_transcript_exon_variant,,ENST00000466863,;ADSL,upstream_gene_variant,,ENST00000477111,;	118	42	37	SUCCESS
EP300	2033	.	GRCh37	22	41574913	41574913	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	58	0	ENST00000263253.7:c.7198T>A	p.Ser2400Thr	p.S2400T	ENST00000263253	NM_001429.3	2400	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS14010.1	7198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACTCAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.Ser2400Thr,ENST00000263253,;RP1-85F18.5,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;	8417	58	81	SUCCESS
ZC3H7B	23264	.	GRCh37	22	41723227	41723227	+	synonymous_variant	Silent	SNP	G	G	T	rs755858023	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	56	0	ENST00000352645.4:c.303G>T	p.Ala101=	p.A101=	ENST00000352645	NM_017590.5	101	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14013.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCGCTGGA	NONE	byFrequency	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000345793	.	5/23	.	.	.	.	.	.	.	.	rs755858023	5/23	PASS	ENST00000352645	Transcript	.	.	ENSG00000100403	30869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z3H7B_HUMAN	ZC3H7B	HGNC	.	.	UPI000002B2AD	SNV	ZC3H7B,synonymous_variant,p.%3D,ENST00000352645,;ZC3H7B,synonymous_variant,p.%3D,ENST00000351589,;ZC3H7B,non_coding_transcript_exon_variant,,ENST00000486331,;	560	56	49	SUCCESS
KLHDC7B	113730	.	GRCh37	22	50988160	50988160	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778375730	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	35	0	ENST00000395676.2:c.1565C>A	p.Ala522Asp	p.A522D	ENST00000395676	NM_138433.3	522	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS14097.2	1565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCCTCCC	NONE	.	.	Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF147,hmmpanther:PTHR24412,Low_complexity_(Seg):seg	.	.	ENSP00000379034	.	1/1	.	.	.	.	.	.	.	.	rs778375730	1/1	PASS	ENST00000395676	Transcript	.	.	ENSG00000130487	25145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	KLD7B_HUMAN	KLHDC7B	HGNC	.	.	UPI00005A75D4	SNV	KLHDC7B,missense_variant,p.Ala522Asp,ENST00000395676,;SYCE3,downstream_gene_variant,,ENST00000402753,;SYCE3,downstream_gene_variant,,ENST00000406915,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;	1699	36	40	SUCCESS
CCDC138	165055	.	GRCh37	2	109411169	109411170	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AATTG	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	70	0	ENST00000295124.4:c.569_573dup	p.Gln192AsnfsTer37	p.Q192Nfs*37	ENST00000295124	NM_144978.1	190	aaa/aAATTGaa	0	.	.	.	.	.	AATTG	K/KLX	protein_coding	YES	CCDS2080.1	568-569	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCTGAAATTG	NONE	.	.	.	.	.	ENSP00000295124	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000295124	Transcript	.	.	ENSG00000163006	26531	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC138_HUMAN	CCDC138	HGNC	.	.	UPI000006E2CB	insertion	CCDC138,frameshift_variant,p.Gln192AsnfsTer37,ENST00000295124,;CCDC138,frameshift_variant,p.Gln90AsnfsTer37,ENST00000456512,;CCDC138,frameshift_variant,p.Gln192AsnfsTer37,ENST00000412964,;CCDC138,downstream_gene_variant,,ENST00000470608,;CCDC138,3_prime_UTR_variant,,ENST00000409529,;CCDC138,downstream_gene_variant,,ENST00000447782,;	628-629	70	65	SUCCESS
KCNJ3	3760	.	GRCh37	2	155711241	155711241	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	82	0	ENST00000295101.2:c.922A>G	p.Met308Val	p.M308V	ENST00000295101	NM_002239.3	308	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS2200.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGATGACT	NONE	.	.	hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000295101	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295101	Transcript	.	.	ENSG00000162989	6264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,missense_variant,p.Met308Val,ENST00000295101,;KCNJ3,synonymous_variant,p.%3D,ENST00000544049,;KCNJ3,splice_region_variant,,ENST00000493505,;	1399	82	56	SUCCESS
PUM2	23369	.	GRCh37	2	20507799	20507800	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TT	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	54	0	ENST00000338086.5:c.821_822dup	p.Gln275AsnfsTer3	p.Q275Nfs*3	ENST00000338086	NM_015317.1	274	-/AA	0	.	.	.	.	.	TT	-/X	protein_coding	YES	CCDS1698.1	822-823	VARSCANI*|PINDEL	.	TAACTGTTGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537	.	.	ENSP00000338173	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000338086	Transcript	.	.	ENSG00000055917	14958	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PUM2_HUMAN	PUM2	HGNC	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN	.	UPI0000001665	insertion	PUM2,frameshift_variant,p.Gln275AsnfsTer3,ENST00000403432,;PUM2,frameshift_variant,p.Gln275AsnfsTer3,ENST00000442400,;PUM2,frameshift_variant,p.Gln219AsnfsTer3,ENST00000536417,;PUM2,frameshift_variant,p.Gln275AsnfsTer3,ENST00000361078,;PUM2,frameshift_variant,p.Gln275AsnfsTer3,ENST00000338086,;PUM2,frameshift_variant,p.Gln275AsnfsTer3,ENST00000319801,;PUM2,frameshift_variant,p.Gln166AsnfsTer3,ENST00000440577,;PUM2,downstream_gene_variant,,ENST00000420234,;PUM2,downstream_gene_variant,,ENST00000446940,;PUM2,downstream_gene_variant,,ENST00000429419,;PUM2,downstream_gene_variant,,ENST00000432105,;	845-846	54	68	SUCCESS
SP100	6672	.	GRCh37	2	231368974	231368974	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	31	114	0	ENST00000264052.5:c.1839G>A	p.Lys613=	p.K613=	ENST00000264052	NM_003113.3	613	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS42832.1	1839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAGGGCAC	NONE	.	.	PROSITE_profiles:PS50864,hmmpanther:PTHR13711:SF45,hmmpanther:PTHR13711,Pfam_domain:PF01342,Gene3D:3.10.390.10,SMART_domains:SM00258,Superfamily_domains:SSF63763	.	.	ENSP00000343023	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000340126	Transcript	.	.	ENSG00000067066	11206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP100_HUMAN	SP100	HGNC	Q4ZG64_HUMAN	.	UPI000013DD6A	SNV	SP100,synonymous_variant,p.%3D,ENST00000264052,;SP100,synonymous_variant,p.%3D,ENST00000340126,;SP100,synonymous_variant,p.%3D,ENST00000409112,;SP100,upstream_gene_variant,,ENST00000431952,;RN7SL834P,upstream_gene_variant,,ENST00000461450,;SP100,non_coding_transcript_exon_variant,,ENST00000459786,;SP100,upstream_gene_variant,,ENST00000494901,;	1870	114	102	SUCCESS
EIF2AK2	5610	.	GRCh37	2	37349710	37349710	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1388319008	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	69	0	ENST00000233057.4:c.1006A>G	p.Thr336Ala	p.T336A	ENST00000233057	NM_001135651.2	336	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS1786.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGTCTCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF77,hmmpanther:PTHR11042,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000233057	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000233057	Transcript	.	.	ENSG00000055332	9437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.82)	.	E2AK2_HUMAN	EIF2AK2	HGNC	F8WBH4_HUMAN,C9JZT2_HUMAN,B7ZKK7_HUMAN	.	UPI000000D925	SNV	EIF2AK2,missense_variant,p.Thr336Ala,ENST00000395127,;EIF2AK2,missense_variant,p.Thr336Ala,ENST00000233057,;EIF2AK2,missense_variant,p.Thr295Ala,ENST00000405334,;	1329	69	103	SUCCESS
DNAH6	1768	.	GRCh37	2	84960668	84960668	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	47	121	0	ENST00000237449.6:c.10310del	p.Asn3437IlefsTer11	p.N3437Ifs*11	ENST00000237449		3436	cAa/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS46348.1	10307	INDELOCATOR*|VARSCANI*|PINDEL	.	TTACCCAAAATA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374045	.	62/77	.	.	.	.	.	.	.	.	.	62/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	deletion	DNAH6,frameshift_variant,p.Asn3437IlefsTer11,ENST00000237449,;DNAH6,frameshift_variant,p.Asn3437IlefsTer11,ENST00000389394,;	10444	121	184	SUCCESS
RETSAT	54884	.	GRCh37	2	85571364	85571364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	61	111	0	ENST00000295802.4:c.1364C>T	p.Pro455Leu	p.P455L	ENST00000295802	NM_017750.3	455	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1972.1	1364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGGGAAT	NONE	.	.	hmmpanther:PTHR10668,hmmpanther:PTHR10668:SF61	.	.	ENSP00000295802	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000295802	Transcript	.	.	ENSG00000042445	25991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	RETST_HUMAN	RETSAT	HGNC	I0EZ74_HUMAN	.	UPI000003BBD9	SNV	RETSAT,missense_variant,p.Pro455Leu,ENST00000263854,;RETSAT,missense_variant,p.Pro455Leu,ENST00000295802,;RETSAT,missense_variant,p.Pro244Leu,ENST00000449375,;RETSAT,missense_variant,p.Pro394Leu,ENST00000457495,;RETSAT,splice_region_variant,,ENST00000475624,;RETSAT,missense_variant,p.Pro294Leu,ENST00000429806,;RETSAT,splice_region_variant,,ENST00000438611,;PEBP1P2,upstream_gene_variant,,ENST00000603980,;	1477	111	129	SUCCESS
MRPS22	56945	.	GRCh37	3	139074588	139074588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	77	184	0	ENST00000310776.4:c.943C>A	p.Gln315Lys	p.Q315K	ENST00000310776	NM_020191.2	315	Caa/Aaa	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3108.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTCAAGGG	NONE	.	1660	.	.	.	ENSP00000329419	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333188	Transcript	.	.	ENSG00000184432	2232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPB2_HUMAN	COPB2	HGNC	D6RCL6_HUMAN,D6RBZ7_HUMAN,D6RBT6_HUMAN,D6RBG7_HUMAN,B4DZI8_HUMAN	.	UPI0000161FB4	SNV	COPB2,stop_gained,p.Glu97Ter,ENST00000503326,;MRPS22,missense_variant,p.Gln315Lys,ENST00000495075,;MRPS22,missense_variant,p.Gln314Lys,ENST00000465056,;MRPS22,missense_variant,p.Gln315Lys,ENST00000310776,;MRPS22,missense_variant,p.Gln274Lys,ENST00000478464,;COPB2,downstream_gene_variant,,ENST00000333188,;COPB2,downstream_gene_variant,,ENST00000512309,;COPB2,downstream_gene_variant,,ENST00000507777,;MRPS22,downstream_gene_variant,,ENST00000480644,;MRPS22,3_prime_UTR_variant,,ENST00000498505,;MRPS22,non_coding_transcript_exon_variant,,ENST00000492644,;MRPS22,non_coding_transcript_exon_variant,,ENST00000480938,;COPB2,downstream_gene_variant,,ENST00000502734,;MRPS22,downstream_gene_variant,,ENST00000483545,;MRPS22,downstream_gene_variant,,ENST00000466690,;	.	184	165	SUCCESS
CCNL1	57018	.	GRCh37	3	156867722	156867722	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	45	139	0	ENST00000295926.3:c.924A>G	p.Val308=	p.V308=	ENST00000295926	NM_020307.2	308	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3178.1	924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTACTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10026:SF64,hmmpanther:PTHR10026,PIRSF_domain:PIRSF036580	.	.	ENSP00000295926	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000295926	Transcript	.	.	ENSG00000163660	20569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNL1_HUMAN	CCNL1	HGNC	.	.	UPI0000071CE2	SNV	CCNL1,synonymous_variant,p.%3D,ENST00000295926,;CCNL1,synonymous_variant,p.%3D,ENST00000461804,;Y_RNA,upstream_gene_variant,,ENST00000364908,;CCNL1,downstream_gene_variant,,ENST00000479052,;CCNL1,synonymous_variant,p.%3D,ENST00000468977,;CCNL1,3_prime_UTR_variant,,ENST00000477127,;CCNL1,3_prime_UTR_variant,,ENST00000475298,;CCNL1,3_prime_UTR_variant,,ENST00000470121,;CCNL1,non_coding_transcript_exon_variant,,ENST00000474539,;CCNL1,non_coding_transcript_exon_variant,,ENST00000464679,;CCNL1,non_coding_transcript_exon_variant,,ENST00000476744,;CCNL1,non_coding_transcript_exon_variant,,ENST00000476367,;CCNL1,non_coding_transcript_exon_variant,,ENST00000464316,;CCNL1,non_coding_transcript_exon_variant,,ENST00000471247,;CCNL1,downstream_gene_variant,,ENST00000495471,;CCNL1,upstream_gene_variant,,ENST00000467849,;CCNL1,downstream_gene_variant,,ENST00000464575,;CCNL1,downstream_gene_variant,,ENST00000465947,;CCNL1,downstream_gene_variant,,ENST00000483789,;CCNL1,downstream_gene_variant,,ENST00000481173,;CCNL1,downstream_gene_variant,,ENST00000478454,;CCNL1,downstream_gene_variant,,ENST00000467081,;CCNL1,downstream_gene_variant,,ENST00000479596,;	1043	139	129	SUCCESS
SERPINI1	5274	.	GRCh37	3	167542319	167542319	+	synonymous_variant	Silent	SNP	A	A	G	rs753147816	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	69	0	ENST00000295777.5:c.1125A>G	p.Pro375=	p.P375=	ENST00000295777	NM_005025.4	375	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3203.1	1125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCATTTTT	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:2.30.39.10,Pfam_domain:PF00079,PROSITE_patterns:PS00284,hmmpanther:PTHR11461:SF50,hmmpanther:PTHR11461	.	.	ENSP00000295777	.	8/9	.	.	.	.	.	.	.	.	rs753147816	8/9	PASS	ENST00000295777	Transcript	.	.	ENSG00000163536	8943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEUS_HUMAN	SERPINI1	HGNC	C9JQU8_HUMAN,C9JDY5_HUMAN	.	UPI000002FBA4	SNV	SERPINI1,synonymous_variant,p.%3D,ENST00000446050,;SERPINI1,synonymous_variant,p.%3D,ENST00000466865,;SERPINI1,synonymous_variant,p.%3D,ENST00000295777,;SERPINI1,non_coding_transcript_exon_variant,,ENST00000488374,;SERPINI1,non_coding_transcript_exon_variant,,ENST00000494666,;	1556	69	76	SUCCESS
FETUB	26998	.	GRCh37	3	186364073	186364073	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	54	105	0	ENST00000265029.3:c.631A>T	p.Ile211Phe	p.I211F	ENST00000265029	NM_014375.2	211	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS3279.1	631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTAATTAAA	NONE	.	.	Superfamily_domains:SSF54403,SMART_domains:SM00043,Gene3D:3.10.450.10,Pfam_domain:PF00031,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF10,PROSITE_profiles:PS51530	.	.	ENSP00000265029	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000265029	Transcript	.	.	ENSG00000090512	3658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FETUB_HUMAN	FETUB	HGNC	C9JC68_HUMAN,B7Z8T3_HUMAN	.	UPI00000361F3	SNV	FETUB,missense_variant,p.Ile63Phe,ENST00000431018,;FETUB,missense_variant,p.Ile63Phe,ENST00000539949,;FETUB,missense_variant,p.Ile211Phe,ENST00000450521,;FETUB,missense_variant,p.Ile146Phe,ENST00000382134,;FETUB,missense_variant,p.Ile211Phe,ENST00000265029,;FETUB,missense_variant,p.Ile174Phe,ENST00000382136,;RP11-134F2.2,intron_variant,,ENST00000428501,;RP11-134F2.2,intron_variant,,ENST00000455926,;FETUB,downstream_gene_variant,,ENST00000488561,;FETUB,3_prime_UTR_variant,,ENST00000435961,;FETUB,3_prime_UTR_variant,,ENST00000420570,;	732	105	122	SUCCESS
CLASP2	23122	.	GRCh37	3	33759454	33759454	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	88	0	ENST00000468888.2:c.41A>T	p.Gln14Leu	p.Q14L	ENST00000468888		14	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	41	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGCACC	NONE	.	.	hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000419974	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000468888	Transcript	.	.	ENSG00000163539	17078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.9)	.	.	CLASP2	HGNC	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN	.	UPI0001B7944B	SNV	CLASP2,missense_variant,p.Gln14Leu,ENST00000359576,;CLASP2,missense_variant,p.Gln14Leu,ENST00000399362,;CLASP2,missense_variant,p.Gln14Leu,ENST00000468888,;CLASP2,5_prime_UTR_variant,,ENST00000307312,;CLASP2,non_coding_transcript_exon_variant,,ENST00000467956,;	88	88	80	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266107	41266107	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	44	130	0	ENST00000349496.5:c.104T>G	p.Ile35Ser	p.I35S	ENST00000349496	NM_001904.3	35	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS2694.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAATCCATT	SITE|p.I35S|c.104T>G|36,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.I35T|c.104T>C|14,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5674,COSM13168,COSM5695	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.852)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ile35Ser,ENST00000349496,;CTNNB1,missense_variant,p.Ile28Ser,ENST00000426215,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000450969,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000431914,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000396185,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000405570,;CTNNB1,missense_variant,p.Ile28Ser,ENST00000453024,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000396183,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	384	130	130	SUCCESS
MST1R	4486	.	GRCh37	3	49936356	49936356	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148258933	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	80	193	0	ENST00000296474.3:c.1492G>A	p.Val498Met	p.V498M	ENST00000296474	NM_002447.2	498	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS2807.1	1492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGGGCT	NONE	byCluster	.	PROSITE_profiles:PS51004,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,PIRSF_domain:PIRSF000617,Superfamily_domains:SSF101912	.	T:0.0001	ENSP00000296474	.	3/20	.	.	.	.	.	.	.	.	rs148258933,COSM4118654,COSM4118655	3/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.532)	.	deleterious(0.02)	0,1,1	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,missense_variant,p.Val498Met,ENST00000344206,;MST1R,missense_variant,p.Val498Met,ENST00000296474,;MST1R,upstream_gene_variant,,ENST00000440292,;MST1R,upstream_gene_variant,,ENST00000434765,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,missense_variant,p.Val498Met,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,intron_variant,,ENST00000493535,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,upstream_gene_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000490053,;	1520	193	177	SUCCESS
DNAH1	25981	.	GRCh37	3	52356615	52356615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	82	0	ENST00000420323.2:c.157C>A	p.Pro53Thr	p.P53T	ENST00000420323	NM_015512.4	53	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS46842.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCCAGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000401514	.	2/78	.	.	.	.	.	.	.	.	.	2/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Pro53Thr,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	418	82	74	SUCCESS
TKT	7086	.	GRCh37	3	53267208	53267208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	66	0	ENST00000423525.2:c.712A>G	p.Ile238Val	p.I238V	ENST00000423525	NM_001135055.2	238	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS58834.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGGCTG	NONE	.	.	hmmpanther:PTHR11624:SF59,hmmpanther:PTHR11624,Pfam_domain:PF00456,Gene3D:3.40.50.970,Superfamily_domains:SSF52518	.	.	ENSP00000391481	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000423516	Transcript	.	.	ENSG00000163931	11834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.33)	.	TKT_HUMAN	TKT	HGNC	B3KPZ8_HUMAN	.	UPI0001AE759A	SNV	TKT,missense_variant,p.Ile238Val,ENST00000462138,;TKT,missense_variant,p.Ile246Val,ENST00000423516,;TKT,missense_variant,p.Ile238Val,ENST00000423525,;TKT,missense_variant,p.Ile191Val,ENST00000296289,;TKT,upstream_gene_variant,,ENST00000461139,;TKT,missense_variant,p.Ile238Val,ENST00000469678,;TKT,3_prime_UTR_variant,,ENST00000472528,;TKT,3_prime_UTR_variant,,ENST00000450814,;TKT,non_coding_transcript_exon_variant,,ENST00000494523,;TKT,non_coding_transcript_exon_variant,,ENST00000460343,;TKT,non_coding_transcript_exon_variant,,ENST00000466765,;TKT,downstream_gene_variant,,ENST00000487660,;TKT,upstream_gene_variant,,ENST00000460243,;	816	66	83	SUCCESS
SPATA12	353324	.	GRCh37	3	57107617	57107617	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	17	0	ENST00000334325.1:c.-106G>T		p.*36*	ENST00000334325	NM_181727.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2879.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGCACTC	NONE	.	.	.	.	.	ENSP00000335392	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334325	Transcript	.	.	ENSG00000186451	23221	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT12_HUMAN	SPATA12	HGNC	.	.	UPI00001A9456	SNV	SPATA12,5_prime_UTR_variant,,ENST00000334325,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000477833,;	570	17	29	SUCCESS
EPHA3	2042	.	GRCh37	3	89391211	89391211	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	47	77	1	ENST00000336596.2:c.1277C>T	p.Ala426Val	p.A426V	ENST00000336596	NM_005233.5	426	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2922.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGCTGCGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000337451	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.42)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Ala426Val,ENST00000494014,;EPHA3,missense_variant,p.Ala426Val,ENST00000452448,;EPHA3,missense_variant,p.Ala426Val,ENST00000336596,;	1502	78	103	SUCCESS
NDST3	9348	.	GRCh37	4	118975107	118975107	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	45	69	1	ENST00000296499.5:c.42A>G	p.Thr14=	p.T14=	ENST00000296499	NM_004784.2	14	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS3708.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACAGTCAT	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000296499	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000296499	Transcript	.	.	ENSG00000164100	7682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDST3_HUMAN	NDST3	HGNC	.	.	UPI0000071C44	SNV	NDST3,synonymous_variant,p.%3D,ENST00000433996,;NDST3,synonymous_variant,p.%3D,ENST00000296499,;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;	445	70	95	SUCCESS
SLC7A11	23657	.	GRCh37	4	139153531	139153531	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	102	195	0	ENST00000280612.5:c.410C>T	p.Ala137Val	p.A137V	ENST00000280612	NM_014331.3	137	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3742.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTGCAGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF248,Pfam_domain:PF13520,TIGRFAM_domain:TIGR00911,PIRSF_domain:PIRSF006060	.	.	ENSP00000280612	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000280612	Transcript	.	.	ENSG00000151012	11059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.349)	.	deleterious(0)	.	XCT_HUMAN	SLC7A11	HGNC	Q9P1X0_HUMAN,Q4W5A5_HUMAN	.	UPI0000138FD5	SNV	SLC7A11,missense_variant,p.Ala137Val,ENST00000280612,;	690	195	210	SUCCESS
SH3BP2	6452	.	GRCh37	4	2813974	2813974	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	73	0	ENST00000442312.2:c.-151A>G		p.*51*	ENST00000442312	NM_001145855.1			0	.	.	.	.	.	G	.	protein_coding	.	CCDS54715.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACAGGAAG	NONE	.	.	.	.	.	ENSP00000388152	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000442312	Transcript	1	.	ENSG00000087266	10825	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	3BP2_HUMAN	SH3BP2	HGNC	D6RER9_HUMAN,D6RC64_HUMAN,D6RBL6_HUMAN,D6RAB4_HUMAN,D6R995_HUMAN	.	UPI00017A7A9D	SNV	SH3BP2,5_prime_UTR_variant,,ENST00000442312,;SH3BP2,intron_variant,,ENST00000513095,;SH3BP2,intron_variant,,ENST00000512014,;SH3BP2,intron_variant,,ENST00000503219,;SH3BP2,intron_variant,,ENST00000508385,;SH3BP2,intron_variant,,ENST00000504294,;SH3BP2,intron_variant,,ENST00000452765,;SH3BP2,intron_variant,,ENST00000389838,;SH3BP2,upstream_gene_variant,,ENST00000435136,;SH3BP2,upstream_gene_variant,,ENST00000502260,;SH3BP2,upstream_gene_variant,,ENST00000508338,;SH3BP2,intron_variant,,ENST00000513020,;SH3BP2,intron_variant,,ENST00000511237,;SH3BP2,intron_variant,,ENST00000510074,;SH3BP2,intron_variant,,ENST00000512131,;SH3BP2,intron_variant,,ENST00000511663,;SH3BP2,upstream_gene_variant,,ENST00000511185,;	29	73	74	SUCCESS
PCDH7	5099	.	GRCh37	4	30732375	30732375	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	64	0	ENST00000361762.2:c.3175A>T	p.Met1059Leu	p.M1059L	ENST00000361762	NM_002589.2	1059	Atg/Ttg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54753.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGATGCGT	NONE	.	.	.	.	.	ENSP00000441802	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Met1059Leu,ENST00000361762,;PCDH7,intron_variant,,ENST00000511884,;PCDH7,intron_variant,,ENST00000543491,;	.	64	59	SUCCESS
ARAP2	116984	.	GRCh37	4	36230968	36230968	+	synonymous_variant	Silent	SNP	C	C	T	rs758809187	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	63	160	0	ENST00000303965.4:c.141G>A	p.Gln47=	p.Q47=	ENST00000303965	NM_015230.3	47	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS3441.1	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCTGCAG	NONE	.	.	PROSITE_profiles:PS50105,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000302895	.	2/33	.	.	.	.	.	.	.	.	rs758809187	2/33	PASS	ENST00000303965	Transcript	.	.	ENSG00000047365	16924	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAP2_HUMAN	ARAP2	HGNC	D6RAD6_HUMAN	.	UPI000013E917	SNV	ARAP2,synonymous_variant,p.%3D,ENST00000506189,;ARAP2,synonymous_variant,p.%3D,ENST00000303965,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	631	160	161	SUCCESS
FRYL	285527	.	GRCh37	4	48636346	48636346	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	85	225	0	ENST00000358350.4:c.82G>T	p.Ala28Ser	p.A28S	ENST00000358350	NM_015030.1	28	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS43227.1	82	RADIA|MUTECT|MUSE	.	TTCAGCTTGAA	NONE	.	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	4/64	.	.	.	.	.	.	.	.	.	4/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	tolerated(0.25)	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,missense_variant,p.Ala28Ser,ENST00000358350,;FRYL,missense_variant,p.Ala28Ser,ENST00000507711,;FRYL,missense_variant,p.Ala120Ser,ENST00000505759,;FRYL,missense_variant,p.Ala28Ser,ENST00000503238,;FRYL,missense_variant,p.Ala28Ser,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000509886,;FRYL,downstream_gene_variant,,ENST00000502520,;FRYL,downstream_gene_variant,,ENST00000514783,;FRYL,downstream_gene_variant,,ENST00000505437,;FRYL,non_coding_transcript_exon_variant,,ENST00000302806,;	687	225	215	SUCCESS
FRYL	285527	.	GRCh37	4	48636368	48636368	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	89	224	0	ENST00000358350.4:c.60C>A	p.Leu20=	p.L20=	ENST00000358350	NM_015030.1	20	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43227.1	60	RADIA|MUTECT|MUSE	.	GCAAAGAGGCT	NONE	.	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	4/64	.	.	.	.	.	.	.	.	.	4/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,synonymous_variant,p.%3D,ENST00000358350,;FRYL,synonymous_variant,p.%3D,ENST00000507711,;FRYL,synonymous_variant,p.%3D,ENST00000505759,;FRYL,synonymous_variant,p.%3D,ENST00000503238,;FRYL,synonymous_variant,p.%3D,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000509886,;FRYL,downstream_gene_variant,,ENST00000502520,;FRYL,downstream_gene_variant,,ENST00000514783,;FRYL,downstream_gene_variant,,ENST00000505437,;FRYL,non_coding_transcript_exon_variant,,ENST00000302806,;	665	224	212	SUCCESS
AFM	173	.	GRCh37	4	74364862	74364862	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs781269586	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	92	0	ENST00000226355.3:c.1321C>T	p.Gln441Ter	p.Q441*	ENST00000226355	NM_001133.2	441	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3557.1	1321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCAACTC	NONE	byFrequency	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF13,hmmpanther:PTHR11385,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000226355	.	11/15	.	.	.	.	.	.	.	.	rs781269586	11/15	PASS	ENST00000226355	Transcript	.	.	ENSG00000079557	316	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAM_HUMAN	AFM	HGNC	.	.	UPI000012565D	SNV	AFM,stop_gained,p.Gln441Ter,ENST00000226355,;AFM,downstream_gene_variant,,ENST00000505794,;	1414	92	72	SUCCESS
SLCO6A1	133482	.	GRCh37	5	101748694	101748694	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	123	289	1	ENST00000379807.3:c.1626G>C	p.Lys542Asn	p.K542N	ENST00000379807	NM_173488.3	542	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS34206.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACCTTTTT	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR11388:SF3,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF07648,Pfam_domain:PF03137,Gene3D:3.30.60.30,Superfamily_domains:SSF100895	.	.	ENSP00000421339	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000506729	Transcript	.	.	ENSG00000205359	23613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SO6A1_HUMAN	SLCO6A1	HGNC	H0Y8R6_HUMAN,D3DSZ4_HUMAN	.	UPI000020C392	SNV	SLCO6A1,missense_variant,p.Lys542Asn,ENST00000379807,;SLCO6A1,missense_variant,p.Lys542Asn,ENST00000506729,;SLCO6A1,missense_variant,p.Lys289Asn,ENST00000513675,;SLCO6A1,missense_variant,p.Lys480Asn,ENST00000389019,;SLCO6A1,missense_variant,p.Lys289Asn,ENST00000379810,;	1798	290	279	SUCCESS
FBN2	2201	.	GRCh37	5	127744443	127744443	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	105	248	0	ENST00000262464.4:c.1002T>C	p.Cys334=	p.C334=	ENST00000262464	NM_001999.3	334	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS34222.1	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAACATTC	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	14/71	.	.	.	.	.	.	.	.	.	14/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;FBN2,synonymous_variant,p.%3D,ENST00000508989,;	1977	248	244	SUCCESS
PDLIM4	8572	.	GRCh37	5	131607555	131607555	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766802234	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	35	64	0	ENST00000253754.3:c.742G>A	p.Gly248Ser	p.G248S	ENST00000253754	NM_003687.3	248	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS4152.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGCCTG	BUFFER|p.P245P|c.735G>A|4	byFrequency	.	Superfamily_domains:SSF57716,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF6	.	.	ENSP00000253754	.	6/7	.	.	.	.	.	.	.	.	rs766802234	6/7	PASS	ENST00000253754	Transcript	.	.	ENSG00000131435	16501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	tolerated(0.47)	.	PDLI4_HUMAN	PDLIM4	HGNC	C9J542_HUMAN	.	UPI00001338F6	SNV	PDLIM4,missense_variant,p.Gly248Ser,ENST00000253754,;P4HA2,intron_variant,,ENST00000431054,;PDLIM4,intron_variant,,ENST00000379018,;P4HA2,intron_variant,,ENST00000439698,;P4HA2,intron_variant,,ENST00000416053,;PDLIM4,downstream_gene_variant,,ENST00000418373,;P4HA2,intron_variant,,ENST00000471826,;PDLIM4,downstream_gene_variant,,ENST00000484620,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000462597,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000474421,;	806	64	68	SUCCESS
PROB1	389333	.	GRCh37	5	138728471	138728471	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773491727	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	66	0	ENST00000434752.2:c.2300G>A	p.Arg767His	p.R767H	ENST00000434752	NM_001161546.1	767	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS54909.1	2300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCGCTGG	NONE	.	.	.	.	.	ENSP00000416033	.	1/1	.	.	.	.	.	.	.	.	rs773491727	1/1	PASS	ENST00000434752	Transcript	.	.	ENSG00000228672	41906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious_low_confidence(0.05)	.	PROB1_HUMAN	PROB1	HGNC	.	.	UPI00001974A9	SNV	PROB1,missense_variant,p.Arg767His,ENST00000434752,;MZB1,upstream_gene_variant,,ENST00000412103,;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;SPATA24,downstream_gene_variant,,ENST00000450845,;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,;MZB1,upstream_gene_variant,,ENST00000457570,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000513389,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000503120,;	2415	66	79	SUCCESS
TCOF1	6949	.	GRCh37	5	149753925	149753925	+	synonymous_variant	Silent	SNP	G	G	A	rs764909247	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	89	205	0	ENST00000377797.3:c.1059G>A	p.Thr353=	p.T353=	ENST00000377797	NM_001135243.1	353	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54936.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGCCAGC	NONE	byFrequency	.	hmmpanther:PTHR20787,Pfam_domain:PF03546	.	.	ENSP00000421655	.	8/26	.	.	.	.	.	.	.	.	rs764909247	8/26	PASS	ENST00000504761	Transcript	1	.	ENSG00000070814	11654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCOF_HUMAN	TCOF1	HGNC	Q9UFD4_HUMAN	.	UPI0000EE3736	SNV	TCOF1,synonymous_variant,p.%3D,ENST00000427724,;TCOF1,synonymous_variant,p.%3D,ENST00000513346,;TCOF1,synonymous_variant,p.%3D,ENST00000394269,;TCOF1,synonymous_variant,p.%3D,ENST00000439160,;TCOF1,synonymous_variant,p.%3D,ENST00000377797,;TCOF1,synonymous_variant,p.%3D,ENST00000451292,;TCOF1,synonymous_variant,p.%3D,ENST00000445265,;TCOF1,synonymous_variant,p.%3D,ENST00000323668,;TCOF1,synonymous_variant,p.%3D,ENST00000504761,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,upstream_gene_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,upstream_gene_variant,,ENST00000506767,;TCOF1,upstream_gene_variant,,ENST00000514442,;	1059	205	220	SUCCESS
GALNT10	55568	.	GRCh37	5	153795396	153795396	+	synonymous_variant	Silent	SNP	C	C	T	rs145718506	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	103	251	1	ENST00000297107.6:c.1557C>T	p.Thr519=	p.T519=	ENST00000297107	NM_198321.3	519	acC/acT	0	.	G:0	.	G:0	.	T	T	protein_coding	YES	CCDS4325.1	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCAAGAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF41,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370	G:0	.	ENSP00000297107	G:0.001	11/12	.	.	.	.	.	.	.	.	rs145718506	11/12	PASS	ENST00000297107	Transcript	.	G:0.0002	ENSG00000164574	19873	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	GLT10_HUMAN	GALNT10	HGNC	Q4G0E1_HUMAN,D3DQI7_HUMAN	.	UPI0000041292	SNV	GALNT10,synonymous_variant,p.%3D,ENST00000377661,;GALNT10,synonymous_variant,p.%3D,ENST00000377657,;GALNT10,synonymous_variant,p.%3D,ENST00000297107,;SAP30L-AS1,intron_variant,,ENST00000524264,;SAP30L-AS1,intron_variant,,ENST00000519727,;GALNT10,3_prime_UTR_variant,,ENST00000520647,;GALNT10,non_coding_transcript_exon_variant,,ENST00000517958,;	1694	252	269	SUCCESS
KIF4B	285643	.	GRCh37	5	154396709	154396714	+	inframe_deletion	In_Frame_Del	DEL	AGCAGT	AGCAGT	-	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	AGCAGT	AGCAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	138	77	225	0	ENST00000435029.4:c.3290_3295del	p.Lys1097_Cys1099delinsSer	p.K1097_C1099delinsS	ENST00000435029	NM_001099293.1	1097	aAGCAGTgt/agt	0	.	.	.	.	.	-	KQC/S	protein_coding	YES	CCDS47324.1	3290-3295	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAACAAGCAGTGTGGG	NONE	.	.	hmmpanther:PTHR24115:SF392,hmmpanther:PTHR24115	.	.	ENSP00000387875	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000435029	Transcript	.	.	ENSG00000226650	6322	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF4B_HUMAN	KIF4B	HGNC	.	.	UPI000013D5DB	deletion	KIF4B,inframe_deletion,p.Lys1097_Cys1099delinsSer,ENST00000435029,;	3450-3455	225	215	SUCCESS
ATP10B	23120	.	GRCh37	5	160059155	160059155	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	51	0	ENST00000327245.5:c.1601T>C	p.Val534Ala	p.V534A	ENST00000327245	NM_025153.2	534	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS43394.1	1601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCACAGGA	NONE	.	.	Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	tolerated(0.27)	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,missense_variant,p.Val534Ala,ENST00000327245,;ATP10B,missense_variant,p.Val142Ala,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,downstream_gene_variant,,ENST00000521033,;ATP10B,downstream_gene_variant,,ENST00000326831,;ATP10B,downstream_gene_variant,,ENST00000517802,;	2448	51	57	SUCCESS
FLT4	2324	.	GRCh37	5	180043367	180043367	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	72	0	ENST00000261937.6:c.3219T>A	p.Ser1073Arg	p.S1073R	ENST00000261937	NM_182925.4	1073	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS4457.1	3219	RADIA|MUTECT|MUSE	.	CTCACACTGCC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50011	.	.	ENSP00000261937	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.598)	.	deleterious(0.01)	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,missense_variant,p.Ser1073Arg,ENST00000261937,;FLT4,missense_variant,p.Ser1073Arg,ENST00000502649,;FLT4,missense_variant,p.Ser1073Arg,ENST00000393347,;FLT4,missense_variant,p.Ser111Arg,ENST00000512795,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,splice_region_variant,,ENST00000507059,;FLT4,splice_region_variant,,ENST00000514810,;FLT4,upstream_gene_variant,,ENST00000502603,;FLT4,upstream_gene_variant,,ENST00000510000,;	3298	72	54	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33616019	33616019	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	34	71	0	ENST00000504830.1:c.2302G>A	p.Ala768Thr	p.A768T	ENST00000504830	NM_030955.2	768	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34140.1	2302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCCAGCT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF05986	.	.	ENSP00000422554	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,missense_variant,p.Ala768Thr,ENST00000504830,;ADAMTS12,missense_variant,p.Ala683Thr,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000506952,;	2638	71	94	SUCCESS
SPEF2	79925	.	GRCh37	5	35807283	35807283	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	86	0	ENST00000356031.3:c.5307T>C	p.Ile1769=	p.I1769=	ENST00000356031	NM_024867.3	1769	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS43309.1	5307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATTGAAGT	NONE	.	.	hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Pfam_domain:PF05699	.	.	ENSP00000348314	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,synonymous_variant,p.%3D,ENST00000440995,;SPEF2,synonymous_variant,p.%3D,ENST00000303129,;SPEF2,synonymous_variant,p.%3D,ENST00000356031,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;	5461	86	79	SUCCESS
CARD6	84674	.	GRCh37	5	40843445	40843445	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1219414071	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	57	147	0	ENST00000254691.5:c.475G>A	p.Ala159Thr	p.A159T	ENST00000254691	NM_032587.3	159	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3935.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGCTTTG	NONE	.	.	hmmpanther:PTHR22797:SF26,hmmpanther:PTHR22797	.	.	ENSP00000254691	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000254691	Transcript	.	.	ENSG00000132357	16394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	deleterious(0.04)	.	CARD6_HUMAN	CARD6	HGNC	.	.	UPI000013CE50	SNV	CARD6,missense_variant,p.Ala159Thr,ENST00000381677,;CARD6,missense_variant,p.Ala159Thr,ENST00000254691,;	674	147	160	SUCCESS
PDE4D	5144	.	GRCh37	5	58295717	58295717	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	11	0	ENST00000340635.6:c.922-6425C>T		p.*308*	ENST00000340635	NM_001104631.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47213.1	.	MUTECT|MUSE	.	TAGTTGCAAGA	NONE	.	.	.	.	.	ENSP00000345502	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODIFIER	6/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,5_prime_UTR_variant,,ENST00000317118,;PDE4D,intron_variant,,ENST00000505453,;PDE4D,intron_variant,,ENST00000503258,;PDE4D,intron_variant,,ENST00000546160,;PDE4D,intron_variant,,ENST00000360047,;PDE4D,intron_variant,,ENST00000340635,;PDE4D,intron_variant,,ENST00000405755,;PDE4D,intron_variant,,ENST00000507116,;PDE4D,intron_variant,,ENST00000358923,;PDE4D,intron_variant,,ENST00000502484,;PDE4D,intron_variant,,ENST00000405053,;PDE4D,intron_variant,,ENST00000515011,;PDE4D,intron_variant,,ENST00000309641,;	.	11	15	SUCCESS
POU5F2	134187	.	GRCh37	5	93076773	93076773	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	48	0	ENST00000510627.4:c.497G>A	p.Arg166His	p.R166H	ENST00000510627	NM_153216.1	166	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS59489.1	497	MUTECT|MUSE|VARSCANS	.	CGAAGCGGCAG	NONE	.	.	PROSITE_profiles:PS51179,hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636,PROSITE_patterns:PS00465,Gene3D:1.10.260.40,Pfam_domain:PF00157,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028	.	.	ENSP00000464890	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510627	Transcript	.	.	ENSG00000248483	26367	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.694)	.	deleterious(0.03)	.	PO5F2_HUMAN	POU5F2	HGNC	.	.	UPI0000135E4C	SNV	POU5F2,missense_variant,p.Arg166His,ENST00000510627,;FAM172A,intron_variant,,ENST00000509739,;FAM172A,intron_variant,,ENST00000505869,;FAM172A,intron_variant,,ENST00000509163,;FAM172A,intron_variant,,ENST00000395965,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;POU5F2,non_coding_transcript_exon_variant,,ENST00000606183,;FAM172A,intron_variant,,ENST00000502503,;	571	48	32	SUCCESS
CEP57L1	285753	.	GRCh37	6	109481821	109481821	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	167	373	0	ENST00000359793.3:c.1063T>G	p.Ser355Ala	p.S355A	ENST00000359793	NM_173830.4	355	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS5071.1	1063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATTCAGTC	NONE	.	.	Pfam_domain:PF06657,hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF10,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000383936	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000407272	Transcript	.	.	ENSG00000183137	21561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.51)	.	CE57L_HUMAN	CEP57L1	HGNC	E5RK85_HUMAN,E5RJP9_HUMAN,E5RJG4_HUMAN,E5RIK8_HUMAN,E5RI49_HUMAN,E5RHF8_HUMAN,E5RH23_HUMAN,E5RG82_HUMAN,E5RG21_HUMAN	.	UPI00000741C4	SNV	CEP57L1,missense_variant,p.Ser255Ala,ENST00000520883,;CEP57L1,missense_variant,p.Ser255Ala,ENST00000336977,;CEP57L1,missense_variant,p.Ser136Ala,ENST00000523174,;CEP57L1,missense_variant,p.Ser302Ala,ENST00000521522,;CEP57L1,missense_variant,p.Ser372Ala,ENST00000368970,;CEP57L1,missense_variant,p.Ser355Ala,ENST00000368968,;CEP57L1,missense_variant,p.Ser355Ala,ENST00000407272,;CEP57L1,missense_variant,p.Ser358Ala,ENST00000523787,;CEP57L1,missense_variant,p.Ser355Ala,ENST00000517392,;CEP57L1,missense_variant,p.Ser355Ala,ENST00000359793,;CEP57L1,downstream_gene_variant,,ENST00000519095,;CEP57L1,downstream_gene_variant,,ENST00000518853,;CEP57L1,downstream_gene_variant,,ENST00000523209,;CEP57L1,downstream_gene_variant,,ENST00000522490,;CEP57L1,downstream_gene_variant,,ENST00000521277,;CEP57L1,3_prime_UTR_variant,,ENST00000520610,;CEP57L1,downstream_gene_variant,,ENST00000520761,;	1640	373	348	SUCCESS
SLC22A16	85413	.	GRCh37	6	110763848	110763848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	100	0	ENST00000368919.3:c.782G>T	p.Gly261Val	p.G261V	ENST00000368919	NM_033125.3	261	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5084.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATCCTGTC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF00083,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF206,PROSITE_profiles:PS50850	.	.	ENSP00000357915	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000368919	Transcript	.	.	ENSG00000004809	20302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	S22AG_HUMAN	SLC22A16	HGNC	Q96ER0_HUMAN,C9JU94_HUMAN,C9JGT0_HUMAN	.	UPI000000DC13	SNV	SLC22A16,missense_variant,p.Gly261Val,ENST00000368919,;SLC22A16,missense_variant,p.Gly227Val,ENST00000330550,;SLC22A16,missense_variant,p.Gly91Val,ENST00000434949,;SLC22A16,missense_variant,p.Gly218Val,ENST00000437378,;SLC22A16,missense_variant,p.Gly261Val,ENST00000439654,;SLC22A16,missense_variant,p.Gly178Val,ENST00000451557,;SLC22A16,3_prime_UTR_variant,,ENST00000456137,;SLC22A16,downstream_gene_variant,,ENST00000424139,;RN7SL617P,upstream_gene_variant,,ENST00000485298,;	849	100	108	SUCCESS
NCOA7	135112	.	GRCh37	6	126199417	126199417	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	109	0	ENST00000368357.3:c.360C>G	p.Asn120Lys	p.N120K	ENST00000368357	NM_001199619.1	120	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS5132.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAACCAGGA	NONE	.	.	hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354,Pfam_domain:PF01476,Gene3D:3.10.350.10,SMART_domains:SM00257,Superfamily_domains:SSF54106	.	.	ENSP00000357341	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000368357	Transcript	.	.	ENSG00000111912	21081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0.01)	.	NCOA7_HUMAN	NCOA7	HGNC	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN	.	UPI00001AE66D	SNV	NCOA7,missense_variant,p.Asn120Lys,ENST00000392477,;NCOA7,missense_variant,p.Asn16Lys,ENST00000229634,;NCOA7,missense_variant,p.Asn120Lys,ENST00000368357,;NCOA7,missense_variant,p.Asn120Lys,ENST00000417494,;NCOA7,upstream_gene_variant,,ENST00000413085,;NCOA7,downstream_gene_variant,,ENST00000419660,;RN7SKP56,downstream_gene_variant,,ENST00000410513,;	712	109	97	SUCCESS
NOL7	51406	.	GRCh37	6	13615631	13615631	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	78	0	ENST00000451315.2:c.41C>A	p.Ser14Ter	p.S14*	ENST00000451315	NM_016167.3	14	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS4528.1	41	MUTECT|MUSE	.	GGCGTCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32337	.	.	ENSP00000405674	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000451315	Transcript	.	.	ENSG00000225921	21040	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOL7_HUMAN	NOL7	HGNC	.	.	UPI000007196C	SNV	NOL7,stop_gained,p.Ser14Ter,ENST00000451315,;AL441883.1,downstream_gene_variant,,ENST00000600057,;SIRT5,downstream_gene_variant,,ENST00000359782,;SIRT5,downstream_gene_variant,,ENST00000397350,;NOL7,upstream_gene_variant,,ENST00000420088,;SIRT5,downstream_gene_variant,,ENST00000606117,;RP1-223E5.4,upstream_gene_variant,,ENST00000566170,;NOL7,upstream_gene_variant,,ENST00000474485,;SIRT5,downstream_gene_variant,,ENST00000379250,;	73	78	78	SUCCESS
IL20RA	53832	.	GRCh37	6	137330583	137330583	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	83	0	ENST00000316649.5:c.450C>A	p.Ser150=	p.S150=	ENST00000316649	NM_014432.3	150	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5181.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGGACTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR20859:SF21,hmmpanther:PTHR20859,Gene3D:2.60.40.10,Pfam_domain:PF09294,Superfamily_domains:SSF49265	.	.	ENSP00000314976	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000316649	Transcript	.	.	ENSG00000016402	6003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I20RA_HUMAN	IL20RA	HGNC	F5H675_HUMAN	.	UPI000006FA41	SNV	IL20RA,synonymous_variant,p.%3D,ENST00000367746,;IL20RA,synonymous_variant,p.%3D,ENST00000367748,;IL20RA,synonymous_variant,p.%3D,ENST00000541547,;IL20RA,synonymous_variant,p.%3D,ENST00000316649,;IL20RA,non_coding_transcript_exon_variant,,ENST00000468393,;	686	83	89	SUCCESS
CD83	9308	.	GRCh37	6	14118190	14118190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	37	0	ENST00000379153.3:c.47T>C	p.Leu16Pro	p.L16P	ENST00000379153	NM_001040280.1	16	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4532.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTGGCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15193,hmmpanther:PTHR15193:SF0	.	.	ENSP00000368450	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000379153	Transcript	.	.	ENSG00000112149	1703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.03)	.	CD83_HUMAN	CD83	HGNC	.	.	UPI000004C561	SNV	CD83,missense_variant,p.Leu16Pro,ENST00000379153,;	218	37	46	SUCCESS
FNDC1	84624	.	GRCh37	6	159672391	159672391	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	70	0	ENST00000297267.9:c.4892C>A	p.Ala1631Glu	p.A1631E	ENST00000297267	NM_032532.2	1631	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS47512.1	4892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCACTGG	NONE	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Ala1568Glu,ENST00000340366,;FNDC1,missense_variant,p.Ala1631Glu,ENST00000297267,;FNDC1,missense_variant,p.Ala1527Glu,ENST00000329629,;	5092	70	99	SUCCESS
ERMARD	55780	.	GRCh37	6	170155462	170155462	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	66	171	1	ENST00000366773.3:c.259A>T	p.Lys87Ter	p.K87*	ENST00000366773	NM_018341.2	87	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS34576.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCAAGGGG	NONE	.	.	hmmpanther:PTHR31701,hmmpanther:PTHR31701:SF2	.	.	ENSP00000355735	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000366773	Transcript	.	.	ENSG00000130023	21056	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMARD_HUMAN	ERMARD	HGNC	K7EMW5_HUMAN,K7EME8_HUMAN,F8WAF1_HUMAN	.	UPI000020DF6E	SNV	ERMARD,stop_gained,p.Lys87Ter,ENST00000586341,;ERMARD,stop_gained,p.Lys87Ter,ENST00000366773,;ERMARD,stop_gained,p.Lys87Ter,ENST00000418781,;ERMARD,stop_gained,p.Lys87Ter,ENST00000366772,;ERMARD,5_prime_UTR_variant,,ENST00000392095,;ERMARD,5_prime_UTR_variant,,ENST00000592745,;ERMARD,5_prime_UTR_variant,,ENST00000588437,;ERMARD,5_prime_UTR_variant,,ENST00000592367,;ERMARD,5_prime_UTR_variant,,ENST00000590711,;ERMARD,5_prime_UTR_variant,,ENST00000588451,;TCTE3,upstream_gene_variant,,ENST00000366774,;ERMARD,3_prime_UTR_variant,,ENST00000592315,;ERMARD,non_coding_transcript_exon_variant,,ENST00000592580,;ERMARD,intron_variant,,ENST00000590017,;	292	172	172	SUCCESS
BRD2	6046	.	GRCh37	6	32947653	32947653	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	46	120	0	ENST00000374825.4:c.1891del	p.Tyr631MetfsTer12	p.Y631Mfs*12	ENST00000374825	NM_005104.3	630	ggT/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS56420.1	1995	INDELOCATOR*|VARSCANI*|PINDEL	.	TACAGGTTATGA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF126	.	.	ENSP00000378704	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000395289	Transcript	.	.	ENSG00000204256	1103	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRD2_HUMAN	BRD2	HGNC	U3KQA6_HUMAN	.	UPI0000227E6A	deletion	BRD2,frameshift_variant,p.Tyr666MetfsTer12,ENST00000395289,;BRD2,frameshift_variant,p.Tyr637MetfsTer12,ENST00000449025,;BRD2,frameshift_variant,p.Tyr584MetfsTer12,ENST00000449085,;BRD2,frameshift_variant,p.Tyr631MetfsTer12,ENST00000374825,;BRD2,frameshift_variant,p.Tyr631MetfsTer12,ENST00000374831,;BRD2,frameshift_variant,p.Tyr511MetfsTer12,ENST00000443797,;BRD2,frameshift_variant,p.Tyr666MetfsTer12,ENST00000395287,;BRD2,downstream_gene_variant,,ENST00000607833,;BRD2,downstream_gene_variant,,ENST00000606059,;BRD2,downstream_gene_variant,,ENST00000456339,;BRD2,3_prime_UTR_variant,,ENST00000482914,;BRD2,non_coding_transcript_exon_variant,,ENST00000482838,;BRD2,non_coding_transcript_exon_variant,,ENST00000469132,;BRD2,downstream_gene_variant,,ENST00000481259,;BRD2,downstream_gene_variant,,ENST00000464592,;BRD2,downstream_gene_variant,,ENST00000495733,;BRD2,downstream_gene_variant,,ENST00000463639,;	3596	120	149	SUCCESS
SLC35B2	347734	.	GRCh37	6	44224447	44224447	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1166721932	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	85	177	0	ENST00000393812.3:c.180C>A	p.Phe60Leu	p.F60L	ENST00000393812	NM_178148.2	60	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS34462.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTGAAGTA	NONE	.	.	hmmpanther:PTHR10778,hmmpanther:PTHR10778:SF13	.	.	ENSP00000377401	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000393812	Transcript	.	.	ENSG00000157593	16872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.58)	.	S35B2_HUMAN	SLC35B2	HGNC	B4DDM2_HUMAN,B3KVY9_HUMAN	.	UPI00000705AE	SNV	SLC35B2,stop_gained,p.Ser19Ter,ENST00000538577,;SLC35B2,missense_variant,p.Phe60Leu,ENST00000393810,;SLC35B2,missense_variant,p.Phe60Leu,ENST00000393812,;SLC35B2,intron_variant,,ENST00000537814,;HSP90AB1,downstream_gene_variant,,ENST00000371646,;HSP90AB1,downstream_gene_variant,,ENST00000353801,;NFKBIE,downstream_gene_variant,,ENST00000275015,;NFKBIE,downstream_gene_variant,,ENST00000443607,;HSP90AB1,downstream_gene_variant,,ENST00000371554,;MIR4647,upstream_gene_variant,,ENST00000583964,;SLC35B2,intron_variant,,ENST00000495706,;NFKBIE,downstream_gene_variant,,ENST00000477930,;	324	177	198	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121652900	121652900	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	90	0	ENST00000393386.2:c.3800A>T	p.Glu1267Val	p.E1267V	ENST00000393386	NM_001206838.1	1267	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34740.1	3800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGAGAAAT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	deleterious_low_confidence(0)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Glu1267Val,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000483028,;	4211	90	88	SUCCESS
IKZF1	10320	.	GRCh37	7	50450271	50450271	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	49	0	ENST00000331340.3:c.455C>T	p.Ala152Val	p.A152V	ENST00000331340	NM_006060.4	152	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS59055.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCCTCAT	CODON|p.?|c.1-?_850+?del|74,CODON|p.?|c.161-?_1560+?del|29,CODON|p.?|c.161-?_850+?del|163	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23,PROSITE_profiles:PS50157	.	.	ENSP00000413025	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.Ala152Val,ENST00000331340,;IKZF1,missense_variant,p.Ala152Val,ENST00000440768,;IKZF1,missense_variant,p.Ala65Val,ENST00000343574,;IKZF1,missense_variant,p.Ala152Val,ENST00000357364,;IKZF1,missense_variant,p.Ala65Val,ENST00000438033,;IKZF1,missense_variant,p.Ala152Val,ENST00000359197,;IKZF1,missense_variant,p.Ala152Val,ENST00000439701,;IKZF1,intron_variant,,ENST00000349824,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	654	49	56	SUCCESS
RUNDC3B	154661	.	GRCh37	7	87369128	87369128	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	62	0	ENST00000338056.3:c.531A>C	p.Ala177=	p.A177=	ENST00000338056	NM_138290.2	177	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS5609.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCAATTGT	NONE	.	.	PROSITE_profiles:PS50826,hmmpanther:PTHR22835:SF124,hmmpanther:PTHR22835,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343	.	.	ENSP00000337732	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000338056	Transcript	.	.	ENSG00000105784	30286	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUN3B_HUMAN	RUNDC3B	HGNC	.	.	UPI0000071425	SNV	RUNDC3B,synonymous_variant,p.%3D,ENST00000338056,;RUNDC3B,synonymous_variant,p.%3D,ENST00000394654,;RUNDC3B,synonymous_variant,p.%3D,ENST00000493037,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000496000,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000466676,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000489461,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,;	942	62	52	SUCCESS
COL14A1	7373	.	GRCh37	8	121282378	121282378	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	80	0	ENST00000297848.3:c.3178G>A	p.Gly1060Arg	p.G1060R	ENST00000297848	NM_021110.2	1060	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS34938.1	3178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGGAGCC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000297848	.	26/48	.	.	.	.	.	.	.	.	.	26/48	PASS	ENST00000297848	Transcript	1	.	ENSG00000187955	2191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.05)	.	COEA1_HUMAN	COL14A1	HGNC	.	.	UPI000046D377	SNV	COL14A1,missense_variant,p.Gly1060Arg,ENST00000309791,;COL14A1,missense_variant,p.Gly965Arg,ENST00000247781,;COL14A1,missense_variant,p.Gly1060Arg,ENST00000297848,;COL14A1,downstream_gene_variant,,ENST00000434620,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;	3448	80	77	SUCCESS
KLHL38	340359	.	GRCh37	8	124664197	124664197	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	44	75	0	ENST00000325995.7:c.970A>G	p.Lys324Glu	p.K324E	ENST00000325995	NM_001081675.2	324	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS43766.1	970	RADIA|MUTECT|MUSE	.	GGCCTTGTACA	NONE	.	.	Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412	.	.	ENSP00000321475	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000325995	Transcript	.	.	ENSG00000175946	34435	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.254)	.	deleterious(0.03)	.	KLH38_HUMAN	KLHL38	HGNC	.	.	UPI00001D82D1	SNV	KLHL38,missense_variant,p.Lys324Glu,ENST00000325995,;CTD-2552K11.2,intron_variant,,ENST00000524355,;	994	75	102	SUCCESS
ZMAT4	79698	.	GRCh37	8	40532253	40532253	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746943911	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	96	0	ENST00000297737.6:c.547G>T	p.Gly183Trp	p.G183W	ENST00000297737	NM_024645.2	183	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS34885.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCCAGTT	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19	.	.	ENSP00000297737	.	5/7	.	.	.	.	.	.	.	.	rs746943911	5/7	PASS	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,missense_variant,p.Gly183Trp,ENST00000297737,;ZMAT4,missense_variant,p.Gly183Trp,ENST00000519406,;ZMAT4,intron_variant,,ENST00000315769,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000519806,;	694	96	93	SUCCESS
KIAA1429	0	.	GRCh37	8	95508121	95508121	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	56	0	ENST00000297591.5:c.4384-2A>G		p.X1462_splice	ENST00000297591	NM_015496.4	1462		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34923.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTAGATA	NONE	.	.	.	.	.	ENSP00000297591	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	HIGH	18/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,splice_acceptor_variant,,ENST00000297591,;KIAA1429,splice_acceptor_variant,,ENST00000437199,;KIAA1429,splice_acceptor_variant,,ENST00000522263,;KIAA1429,splice_acceptor_variant,,ENST00000523263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;KIAA1429,upstream_gene_variant,,ENST00000517624,;	.	56	58	SUCCESS
OR13C3	138803	.	GRCh37	9	107298521	107298521	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1316023606	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	75	119	0	ENST00000374781.2:c.574C>T	p.Leu192Phe	p.L192F	ENST00000374781	NM_001001961.1	192	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS35089.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGTAATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF34,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000363913	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374781	Transcript	.	.	ENSG00000204246	14704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	tolerated(0.18)	.	O13C3_HUMAN	OR13C3	HGNC	.	.	UPI000015F232	SNV	OR13C3,missense_variant,p.Leu192Phe,ENST00000374781,;	617	119	156	SUCCESS
OR1L3	26735	.	GRCh37	9	125437750	125437750	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	58	0	ENST00000304820.2:c.342C>A	p.Leu114=	p.L114=	ENST00000304820	NM_001005234.1	114	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS35128.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTCCTGGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF198,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302863	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304820	Transcript	.	.	ENSG00000171481	8215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1L3_HUMAN	OR1L3	HGNC	.	.	UPI000004618D	SNV	OR1L3,synonymous_variant,p.%3D,ENST00000304820,;	436	58	73	SUCCESS
NR5A1	2516	.	GRCh37	9	127253385	127253385	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	120	0	ENST00000373588.4:c.1113C>T	p.Leu371=	p.L371=	ENST00000373588	NM_004959.4	371	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6856.1	1113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGAGGCA	NONE	.	.	hmmpanther:PTHR24086:SF24,hmmpanther:PTHR24086,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,PIRSF_domain:PIRSF002530,Superfamily_domains:SSF48508,Prints_domain:PR00398	.	.	ENSP00000362690	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000373588	Transcript	.	.	ENSG00000136931	7983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STF1_HUMAN	NR5A1	HGNC	Q9H3V4_HUMAN,Q6QGY2_HUMAN,Q5T6F6_HUMAN,F1D8R8_HUMAN	.	UPI00001360E5	SNV	NR5A1,synonymous_variant,p.%3D,ENST00000373588,;NR5A1,synonymous_variant,p.%3D,ENST00000373587,;	1310	120	118	SUCCESS
RALGDS	5900	.	GRCh37	9	135983386	135983386	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	70	0	ENST00000372050.3:c.1186C>T	p.Leu396=	p.L396=	ENST00000372050	NM_006266.3	396	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6959.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAGTGTAA	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000361120	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000372050	Transcript	.	.	ENSG00000160271	9842	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNDS_HUMAN	RALGDS	HGNC	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN	.	UPI000012B8BC	SNV	RALGDS,synonymous_variant,p.%3D,ENST00000424572,;RALGDS,synonymous_variant,p.%3D,ENST00000372050,;RALGDS,synonymous_variant,p.%3D,ENST00000393160,;RALGDS,synonymous_variant,p.%3D,ENST00000393157,;RALGDS,synonymous_variant,p.%3D,ENST00000372047,;RALGDS,synonymous_variant,p.%3D,ENST00000372062,;RALGDS,synonymous_variant,p.%3D,ENST00000542690,;RALGDS,non_coding_transcript_exon_variant,,ENST00000469972,;RALGDS,non_coding_transcript_exon_variant,,ENST00000493438,;RALGDS,non_coding_transcript_exon_variant,,ENST00000482648,;RALGDS,non_coding_transcript_exon_variant,,ENST00000460587,;RALGDS,upstream_gene_variant,,ENST00000471109,;RALGDS,upstream_gene_variant,,ENST00000493067,;	1208	70	63	SUCCESS
PTENP1	11191	.	GRCh37	9	33676544	33676544	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	138	323	0	ENST00000532280.1:n.954G>A		p.*318*	ENST00000532280				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCCATAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532280	Transcript	.	.	ENSG00000237984	9589	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PTENP1	HGNC	.	.	.	SNV	PTENP1,non_coding_transcript_exon_variant,,ENST00000532280,;PTENP1,non_coding_transcript_exon_variant,,ENST00000447117,;PTENP1,non_coding_transcript_exon_variant,,ENST00000451527,;	954	323	329	SUCCESS
PRUNE2	158471	.	GRCh37	9	79318782	79318782	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	93	0	ENST00000376718.3:c.7747G>A	p.Glu2583Lys	p.E2583K	ENST00000376718	NM_015225.2	2583	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47982.1	7747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCTTTGG	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.07)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Glu1905Lys,ENST00000426088,;PRUNE2,missense_variant,p.Glu2583Lys,ENST00000376718,;PRUNE2,missense_variant,p.Glu2224Lys,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	7871	93	79	SUCCESS
GNAQ	2776	.	GRCh37	9	80537145	80537145	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	60	0	ENST00000286548.4:c.253A>C	p.Thr85Pro	p.T85P	ENST00000286548	NM_002072.3	85	Acg/Ccg	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS6658.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGTGAAGA	NONE	.	.	hmmpanther:PTHR10218:SF184,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895,Prints_domain:PR00442	.	.	ENSP00000286548	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000286548	Transcript	.	.	ENSG00000156052	4390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	deleterious(0.04)	.	GNAQ_HUMAN	GNAQ	HGNC	G3V1P7_HUMAN	.	UPI000006D0FB	SNV	GNAQ,missense_variant,p.Thr85Pro,ENST00000286548,;GNAQ,missense_variant,p.Thr56Pro,ENST00000411677,;	476	60	53	SUCCESS
FBP2	8789	.	GRCh37	9	97325637	97325637	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778979791	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	82	0	ENST00000375337.3:c.812G>T	p.Ser271Ile	p.S271I	ENST00000375337	NM_003837.2	271	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS6711.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGCTCTTC	NONE	.	.	Superfamily_domains:SSF56655,PIRSF_domain:PIRSF000904,PIRSF_domain:PIRSF500210,Pfam_domain:PF00316,Gene3D:3.40.190.80,hmmpanther:PTHR11556:SF13,hmmpanther:PTHR11556,HAMAP:MF_01855	.	.	ENSP00000364486	.	6/7	.	.	.	.	.	.	.	.	rs778979791	6/7	PASS	ENST00000375337	Transcript	.	.	ENSG00000130957	3607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0.01)	.	F16P2_HUMAN	FBP2	HGNC	.	.	UPI000013CDC2	SNV	FBP2,missense_variant,p.Ser271Ile,ENST00000375337,;PCAT7,intron_variant,,ENST00000452148,;	879	82	60	SUCCESS
CFP	5199	.	GRCh37	X	47485892	47485892	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	41	65	0	ENST00000247153.3:c.967del	p.Glu323SerfsTer10	p.E323Sfs*10	ENST00000247153	NM_002621.2	323	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS14282.1	967	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCACTCCCCCC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR22906,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000247153	.	8/10	.	.	.	.	.	.	.	.	COSM1468149	8/10	PASS	ENST00000247153	Transcript	.	.	ENSG00000126759	8864	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PROP_HUMAN	CFP	HGNC	E9PAQ1_HUMAN,C9J7V5_HUMAN	.	UPI0000132325	deletion	CFP,frameshift_variant,p.Glu323SerfsTer10,ENST00000377005,;CFP,frameshift_variant,p.Glu323SerfsTer10,ENST00000247153,;CFP,frameshift_variant,p.Glu323SerfsTer10,ENST00000396992,;CFP,downstream_gene_variant,,ENST00000469388,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,non_coding_transcript_exon_variant,,ENST00000478222,;	1209	65	96	SUCCESS
TBC1D25	4943	.	GRCh37	X	48418426	48418426	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	39	46	0	ENST00000376771.4:c.1130T>C	p.Phe377Ser	p.F377S	ENST00000376771	NM_002536.2	377	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS35242.1	1130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTTTGCAC	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF189,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923,Superfamily_domains:SSF47923	.	.	ENSP00000365962	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000376771	Transcript	.	.	ENSG00000068354	8092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBC25_HUMAN	TBC1D25	HGNC	B4DF03_HUMAN,B4DE92_HUMAN	.	UPI0000160685	SNV	TBC1D25,missense_variant,p.Phe377Ser,ENST00000376771,;TBC1D25,missense_variant,p.Phe123Ser,ENST00000537536,;TBC1D25,downstream_gene_variant,,ENST00000418627,;snoU13,downstream_gene_variant,,ENST00000459609,;TBC1D25,downstream_gene_variant,,ENST00000476141,;TBC1D25,downstream_gene_variant,,ENST00000494495,;TBC1D25,downstream_gene_variant,,ENST00000481090,;	1471	46	47	SUCCESS
PHKA1	5255	.	GRCh37	X	71925044	71925044	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	106	144	0	ENST00000373542.4:c.285+3A>T		p.X95_splice	ENST00000373542	NM_002637.3	95		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14421.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCATACCTG	NONE	.	.	.	.	.	ENSP00000362643	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373542	Transcript	.	.	ENSG00000067177	8925	.	.	LOW	3/31	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KPB1_HUMAN	PHKA1	HGNC	.	.	UPI000013D340	SNV	PHKA1,splice_region_variant,,ENST00000373545,;PHKA1,splice_region_variant,,ENST00000339490,;PHKA1,splice_region_variant,,ENST00000373542,;PHKA1,splice_region_variant,,ENST00000541944,;PHKA1,splice_region_variant,,ENST00000373539,;PHKA1-AS1,intron_variant,,ENST00000420998,;	.	144	130	SUCCESS
BTRC	8945	.	GRCh37	10	103285923	103285923	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1310261380	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	6	116	0	ENST00000370187.3:c.710C>A	p.Ser237Tyr	p.S237Y	ENST00000370187	NM_033637.3	237	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS7512.1	710	MUTECT|MUSE	.	AGATTCTCTGT	NONE	.	.	hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	.	.	ENSP00000359206	.	6/15	.	.	.	.	.	.	.	.	COSM1345388,COSM914028	6/15	PASS	ENST00000370187	Transcript	1	.	ENSG00000166167	1144	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.072)	.	tolerated(0.13)	1,1	FBW1A_HUMAN	BTRC	HGNC	Q5T1W7_HUMAN	.	UPI00000012B5	SNV	BTRC,missense_variant,p.Ser201Tyr,ENST00000408038,;BTRC,missense_variant,p.Ser237Tyr,ENST00000370187,;BTRC,missense_variant,p.Ser196Tyr,ENST00000393441,;BTRC,downstream_gene_variant,,ENST00000370183,;BTRC,non_coding_transcript_exon_variant,,ENST00000465182,;BTRC,downstream_gene_variant,,ENST00000475200,;	828	116	114	SUCCESS
CACUL1	143384	.	GRCh37	10	120450798	120450798	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	65	0	ENST00000369151.3:c.1004T>G	p.Leu335Arg	p.L335R	ENST00000369151	NM_153810.4	335	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS41570.1	1004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATAAGTTCT	NONE	.	.	hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF67	.	.	ENSP00000358147	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000369151	Transcript	.	.	ENSG00000151893	23727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CACL1_HUMAN	CACUL1	HGNC	.	.	UPI000000DCD0	SNV	CACUL1,missense_variant,p.Leu335Arg,ENST00000369151,;CACUL1,downstream_gene_variant,,ENST00000340214,;CACUL1,non_coding_transcript_exon_variant,,ENST00000544392,;CACUL1,3_prime_UTR_variant,,ENST00000493518,;CACUL1,non_coding_transcript_exon_variant,,ENST00000489169,;CACUL1,downstream_gene_variant,,ENST00000481360,;CACUL1,upstream_gene_variant,,ENST00000490610,;	1488	65	68	SUCCESS
DHX32	55760	.	GRCh37	10	127529548	127529548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	84	0	ENST00000284690.3:c.1561C>A	p.His521Asn	p.H521N	ENST00000284690	NM_018180.2	521	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS7652.1	1561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATGTGAAA	NONE	.	.	hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	.	.	ENSP00000284690	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,missense_variant,p.His440Asn,ENST00000284688,;DHX32,missense_variant,p.His145Asn,ENST00000368721,;DHX32,missense_variant,p.His521Asn,ENST00000284690,;BCCIP,intron_variant,,ENST00000299130,;BCCIP,intron_variant,,ENST00000429863,;BCCIP,intron_variant,,ENST00000368759,;BCCIP,downstream_gene_variant,,ENST00000278100,;AL360176.1,upstream_gene_variant,,ENST00000401153,;	2052	84	68	SUCCESS
DHX32	55760	.	GRCh37	10	127529549	127529549	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	85	0	ENST00000284690.3:c.1560A>C	p.Ser520=	p.S520=	ENST00000284690	NM_018180.2	520	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7652.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTGAAAA	NONE	.	.	hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	.	.	ENSP00000284690	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,synonymous_variant,p.%3D,ENST00000284688,;DHX32,synonymous_variant,p.%3D,ENST00000368721,;DHX32,synonymous_variant,p.%3D,ENST00000284690,;BCCIP,intron_variant,,ENST00000299130,;BCCIP,intron_variant,,ENST00000429863,;BCCIP,intron_variant,,ENST00000368759,;BCCIP,downstream_gene_variant,,ENST00000278100,;AL360176.1,upstream_gene_variant,,ENST00000401153,;	2051	85	68	SUCCESS
VIM	7431	.	GRCh37	10	17271486	17271486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	92	0	ENST00000224237.5:c.65G>T	p.Ser22Ile	p.S22I	ENST00000224237		22	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS7120.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGAGCCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF27,hmmpanther:PTHR23239,Pfam_domain:PF04732	.	.	ENSP00000446007	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.05)	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,missense_variant,p.Ser22Ile,ENST00000224237,;VIM,missense_variant,p.Ser22Ile,ENST00000544301,;VIM,upstream_gene_variant,,ENST00000421459,;VIM-AS1,non_coding_transcript_exon_variant,,ENST00000605833,;VIM-AS1,upstream_gene_variant,,ENST00000437232,;RP11-124N14.3,downstream_gene_variant,,ENST00000456355,;VIM,non_coding_transcript_exon_variant,,ENST00000485947,;VIM,non_coding_transcript_exon_variant,,ENST00000478746,;VIM,non_coding_transcript_exon_variant,,ENST00000478317,;VIM,non_coding_transcript_exon_variant,,ENST00000497849,;VIM,upstream_gene_variant,,ENST00000495528,;VIM,missense_variant,p.Ser22Ile,ENST00000487938,;VIM,upstream_gene_variant,,ENST00000469543,;	478	92	77	SUCCESS
THNSL1	79896	.	GRCh37	10	25312254	25312254	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	57	146	0	ENST00000376356.4:c.102A>C	p.Ser34=	p.S34=	ENST00000376356	NM_024838.4	34	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7147.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAAGAAC	NONE	.	.	.	.	.	ENSP00000434887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000524413	Transcript	.	.	ENSG00000185875	26160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THNS1_HUMAN	THNSL1	HGNC	Q9H6P9_HUMAN,Q8N9J5_HUMAN	.	UPI00001F9045	SNV	THNSL1,synonymous_variant,p.%3D,ENST00000524413,;THNSL1,synonymous_variant,p.%3D,ENST00000376356,;	449	146	131	SUCCESS
ZNF503	84858	.	GRCh37	10	77159207	77159220	+	frameshift_variant	Frame_Shift_Del	DEL	GCCAAAGGGCTGGA	GCCAAAGGGCTGGA	-	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	GCCAAAGGGCTGGA	GCCAAAGGGCTGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	41	0	ENST00000372524.4:c.1228_1241del	p.Ser410ArgfsTer25	p.S410Rfs*25	ENST00000372524	NM_032772.4	410	TCCAGCCCTTTGGCc/c	0	.	.	.	.	.	-	SSPLA/X	protein_coding	YES	CCDS7350.1	1228-1241	INDELOCATOR*|PINDEL	.	GCTCCGGCCAAAGGGCTGGAGCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12522,hmmpanther:PTHR12522:SF3,Pfam_domain:PF12402	.	.	ENSP00000361602	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372524	Transcript	.	.	ENSG00000165655	23589	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN503_HUMAN	ZNF503	HGNC	B3KXM8_HUMAN	.	UPI000004A951	deletion	ZNF503,frameshift_variant,p.Ser410ArgfsTer25,ENST00000535216,;ZNF503,frameshift_variant,p.Ser410ArgfsTer25,ENST00000372524,;RP11-399K21.11,intron_variant,,ENST00000418818,;ZNF503-AS2,upstream_gene_variant,,ENST00000466942,;ZNF503-AS2,upstream_gene_variant,,ENST00000425916,;ZNF503-AS2,upstream_gene_variant,,ENST00000486015,;ZNF503-AS2,upstream_gene_variant,,ENST00000438638,;ZNF503-AS2,upstream_gene_variant,,ENST00000527641,;ZNF503-AS2,upstream_gene_variant,,ENST00000484411,;ZNF503-AS2,upstream_gene_variant,,ENST00000491557,;	1715-1728	41	30	SUCCESS
ACTA2-AS1	100132116	.	GRCh37	10	90695169	90695169	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	24	0	ENST00000437930.4:n.1078T>C		p.*360*	ENST00000437930				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7392.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGTGCAGT	NONE	.	.	.	.	.	ENSP00000402373	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458208	Transcript	1	.	ENSG00000107796	130	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTA_HUMAN	ACTA2	HGNC	D2JYH4_HUMAN,Q562S2_HUMAN,F6UVQ4_HUMAN,F6QUT6_HUMAN,B4DUI8_HUMAN,B3KPP5_HUMAN	.	UPI0000000E0F	SNV	ACTA2,intron_variant,,ENST00000224784,;STAMBPL1,intron_variant,,ENST00000371927,;ACTA2,intron_variant,,ENST00000458208,;ACTA2-AS1,non_coding_transcript_exon_variant,,ENST00000437930,;ACTA2-AS1,upstream_gene_variant,,ENST00000596007,;	.	24	32	SUCCESS
TBC1D12	23232	.	GRCh37	10	96269915	96269915	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	42	97	0	ENST00000225235.4:c.1668A>T	p.Pro556=	p.P556=	ENST00000225235	NM_015188.1	556	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41553.1	1668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATCTCT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF201,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000225235	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000225235	Transcript	.	.	ENSG00000108239	29082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC12_HUMAN	TBC1D12	HGNC	B9A6L3_HUMAN	.	UPI00001C1ED6	SNV	TBC1D12,synonymous_variant,p.%3D,ENST00000225235,;TBC1D12,non_coding_transcript_exon_variant,,ENST00000485048,;	1778	97	91	SUCCESS
SORBS1	10580	.	GRCh37	10	97192295	97192295	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1238773846	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	89	0	ENST00000361941.3:c.211G>T	p.Val71Leu	p.V71L	ENST00000361941	NM_001034954.1	71	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS31255.1	211	MUTECT|MUSE	.	AGTCACCGCTC	NONE	.	.	.	.	.	ENSP00000360293	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000371247	Transcript	.	.	ENSG00000095637	14565	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0)	.	SRBS1_HUMAN	SORBS1	HGNC	.	.	UPI000013D6B7	SNV	SORBS1,missense_variant,p.Val39Leu,ENST00000371239,;SORBS1,missense_variant,p.Val39Leu,ENST00000607232,;SORBS1,missense_variant,p.Val71Leu,ENST00000353505,;SORBS1,missense_variant,p.Val39Leu,ENST00000492542,;SORBS1,missense_variant,p.Val71Leu,ENST00000371227,;SORBS1,missense_variant,p.Val39Leu,ENST00000371241,;SORBS1,missense_variant,p.Val71Leu,ENST00000371245,;SORBS1,missense_variant,p.Val71Leu,ENST00000306402,;SORBS1,missense_variant,p.Val71Leu,ENST00000371247,;SORBS1,missense_variant,p.Val71Leu,ENST00000347291,;SORBS1,missense_variant,p.Val71Leu,ENST00000361941,;SORBS1,missense_variant,p.Val71Leu,ENST00000277982,;SORBS1,missense_variant,p.Val71Leu,ENST00000393949,;SORBS1,missense_variant,p.Val71Leu,ENST00000354106,;SORBS1,missense_variant,p.Val39Leu,ENST00000371249,;SORBS1,missense_variant,p.Val71Leu,ENST00000371246,;SORBS1,non_coding_transcript_exon_variant,,ENST00000474353,;	401	89	62	SUCCESS
MUC2	4583	.	GRCh37	11	1094728	1094728	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781571861	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	83	0	ENST00000441003.2:c.5816C>T	p.Thr1939Met	p.T1939M	ENST00000441003	NM_002457.2	1939	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	.	5816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACGACCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	31/49	.	.	.	.	.	.	.	.	rs781571861	31/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Thr77Met,ENST00000361558,;MUC2,missense_variant,p.Thr227Met,ENST00000333592,;MUC2,missense_variant,p.Thr1939Met,ENST00000441003,;MUC2,downstream_gene_variant,,ENST00000359061,;	5843	83	68	SUCCESS
OR52N5	390075	.	GRCh37	11	5799571	5799571	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	13	180	0	ENST00000317093.2:c.294C>T	p.Leu98=	p.L98=	ENST00000317093	NM_001001922.2	98	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31397.1	294	MUTECT|MUSE	.	TCTTTGAGACT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF18,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000322866	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317093	Transcript	.	.	ENSG00000181009	15231	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O52N5_HUMAN	OR52N5	HGNC	.	.	UPI0000041BF9	SNV	OR52N5,synonymous_variant,p.%3D,ENST00000317093,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	327	180	173	SUCCESS
PPP1R32	220004	.	GRCh37	11	61252246	61252246	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	110	0	ENST00000338608.2:c.468G>C	p.Gln156His	p.Q156H	ENST00000338608	NM_145017.2	156	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS8008.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAGCAGCA	NONE	.	.	.	.	.	ENSP00000344140	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000338608	Transcript	.	.	ENSG00000162148	28869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	tolerated(0.06)	.	PPR32_HUMAN	PPP1R32	HGNC	G3F4G3_HUMAN,F5H272_HUMAN	.	UPI000013E13F	SNV	PPP1R32,missense_variant,p.Gln156His,ENST00000338608,;PPP1R32,missense_variant,p.Gln156His,ENST00000432063,;PPP1R32,upstream_gene_variant,,ENST00000535545,;PPP1R32,upstream_gene_variant,,ENST00000538185,;RP11-286N22.8,downstream_gene_variant,,ENST00000541135,;PPP1R32,upstream_gene_variant,,ENST00000366212,;PPP1R32,upstream_gene_variant,,ENST00000542951,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000544880,;RP11-286N22.8,downstream_gene_variant,,ENST00000544025,;RP11-286N22.8,downstream_gene_variant,,ENST00000544801,;RP11-286N22.8,downstream_gene_variant,,ENST00000543044,;RP11-286N22.8,downstream_gene_variant,,ENST00000538594,;	593	110	87	SUCCESS
C2CD3	26005	.	GRCh37	11	73817446	73817446	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	62	173	0	ENST00000334126.7:c.2055A>C	p.Glu685Asp	p.E685D	ENST00000334126	NM_001286577.1	685	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS31636.1	2055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTTTCTTG	NONE	.	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1	.	.	ENSP00000323339	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	tolerated(0.17)	.	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Glu685Asp,ENST00000313663,;C2CD3,missense_variant,p.Glu685Asp,ENST00000334126,;C2CD3,non_coding_transcript_exon_variant,,ENST00000537285,;C2CD3,downstream_gene_variant,,ENST00000366334,;	2282	173	155	SUCCESS
SIRT4	23409	.	GRCh37	12	120741863	120741863	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	26	0	ENST00000202967.4:c.497+2T>G		p.X166_splice	ENST00000202967	NM_012240.2	166		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9194.1	.	MUTECT|MUSE	.	ACAGGTGCAGG	NONE	.	.	.	.	.	ENSP00000202967	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000202967	Transcript	.	.	ENSG00000089163	14932	.	.	HIGH	2/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIR4_HUMAN	SIRT4	HGNC	F5H4X9_HUMAN	.	UPI0000071F11	SNV	SIRT4,splice_donor_variant,,ENST00000202967,;SIRT4,downstream_gene_variant,,ENST00000536460,;SIRT4,splice_donor_variant,,ENST00000537892,;	.	26	14	SUCCESS
BCL7A	605	.	GRCh37	12	122459865	122459865	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	21	1	ENST00000261822.4:c.-133A>T		p.*45*	ENST00000261822	NM_001024808.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9226.1	.	MUTECT|MUSE	.	GTGTGAGTGTG	NONE	.	.	.	.	.	ENSP00000445868	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000538010	Transcript	.	.	ENSG00000110987	1004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCL7A_HUMAN	BCL7A	HGNC	.	.	UPI000007304F	SNV	BCL7A,5_prime_UTR_variant,,ENST00000261822,;BCL7A,5_prime_UTR_variant,,ENST00000538010,;RP11-87C12.5,upstream_gene_variant,,ENST00000538710,;BCL7A,upstream_gene_variant,,ENST00000432926,;	2538	23	26	SUCCESS
ITGA7	3679	.	GRCh37	12	56081819	56081819	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	33	133	0	ENST00000555728.1:c.3251T>C	p.Val1084Ala	p.V1084A	ENST00000555728		1084	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS55832.1	3131	RADIA|MUTECT|MUSE	.	GGATGACCCAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Gene3D:2k1aA00,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	deleterious(0.01)	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,missense_variant,p.Val947Ala,ENST00000452168,;ITGA7,missense_variant,p.Val1040Ala,ENST00000257879,;ITGA7,missense_variant,p.Val1044Ala,ENST00000394230,;ITGA7,missense_variant,p.Val1084Ala,ENST00000555728,;ITGA7,missense_variant,p.Val1044Ala,ENST00000553804,;ITGA7,missense_variant,p.Val1084Ala,ENST00000257880,;ITGA7,missense_variant,p.Val1034Ala,ENST00000347027,;ITGA7,missense_variant,p.Val1040Ala,ENST00000394229,;ITGA7,synonymous_variant,p.%3D,ENST00000557555,;METTL7B,downstream_gene_variant,,ENST00000394252,;ITGA7,3_prime_UTR_variant,,ENST00000554327,;	3150	133	122	SUCCESS
ITGA7	3679	.	GRCh37	12	56081826	56081826	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	38	132	0	ENST00000555728.1:c.3244T>C	p.Trp1082Arg	p.W1082R	ENST00000555728		1082	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS55832.1	3124	RADIA|MUTECT|MUSE	.	CCACCAGGGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.667)	.	deleterious(0)	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,missense_variant,p.Trp945Arg,ENST00000452168,;ITGA7,missense_variant,p.Trp1038Arg,ENST00000257879,;ITGA7,missense_variant,p.Trp1042Arg,ENST00000394230,;ITGA7,missense_variant,p.Trp1082Arg,ENST00000555728,;ITGA7,missense_variant,p.Trp1042Arg,ENST00000553804,;ITGA7,missense_variant,p.Trp1082Arg,ENST00000257880,;ITGA7,missense_variant,p.Leu68Pro,ENST00000557555,;ITGA7,missense_variant,p.Trp1032Arg,ENST00000347027,;ITGA7,missense_variant,p.Trp1038Arg,ENST00000394229,;METTL7B,downstream_gene_variant,,ENST00000394252,;ITGA7,3_prime_UTR_variant,,ENST00000554327,;	3143	132	130	SUCCESS
CCT2	10576	.	GRCh37	12	69992133	69992133	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	242	104	302	0	ENST00000299300.6:c.1367A>G	p.Tyr456Cys	p.Y456C	ENST00000299300	NM_006431.2	456	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8991.1	1367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTATGACA	NONE	.	.	hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592	.	.	ENSP00000299300	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000299300	Transcript	.	.	ENSG00000166226	1615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	TCPB_HUMAN	CCT2	HGNC	Q9H369_HUMAN	.	UPI0000136AF3	SNV	CCT2,missense_variant,p.Tyr409Cys,ENST00000543146,;CCT2,missense_variant,p.Tyr456Cys,ENST00000544368,;CCT2,missense_variant,p.Tyr456Cys,ENST00000299300,;CCT2,3_prime_UTR_variant,,ENST00000550010,;CCT2,upstream_gene_variant,,ENST00000550653,;CCT2,downstream_gene_variant,,ENST00000548787,;CCT2,downstream_gene_variant,,ENST00000553169,;	1555	302	346	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85441230	85441230	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	440	148	452	0	ENST00000393217.2:c.660A>C	p.Lys220Asn	p.K220N	ENST00000393217	NM_001079910.1	220	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS41816.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAATTAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000376910	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Lys118Asn,ENST00000533414,;LRRIQ1,missense_variant,p.Lys220Asn,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000393212,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000529408,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	721	453	588	SUCCESS
TMTC3	160418	.	GRCh37	12	88584233	88584233	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	293	31	275	1	ENST00000266712.6:c.1540A>G	p.Ile514Val	p.I514V	ENST00000266712	NM_181783.3	514	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9032.1	1540	RADIA|MUTECT|MUSE|VARSCANS	.	AGATTATTCCT	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF384,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000266712	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000266712	Transcript	.	.	ENSG00000139324	26899	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.149)	.	tolerated(0.07)	.	TMTC3_HUMAN	TMTC3	HGNC	F8W044_HUMAN	.	UPI000004D255	SNV	TMTC3,missense_variant,p.Ile514Val,ENST00000266712,;TMTC3,downstream_gene_variant,,ENST00000547034,;	1760	277	324	SUCCESS
SPATA13	221178	.	GRCh37	13	24864943	24864943	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	179	0	ENST00000382095.4:c.1126C>G	p.Leu376Val	p.L376V	ENST00000382095	NM_153023.2	376	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS53857.1	3001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCTGCTC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000398560	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,missense_variant,p.Leu1001Val,ENST00000382108,;SPATA13,missense_variant,p.Leu376Val,ENST00000382095,;SPATA13,missense_variant,p.Leu236Val,ENST00000409126,;SPATA13,missense_variant,p.Leu298Val,ENST00000399949,;SPATA13,missense_variant,p.Leu320Val,ENST00000343003,;SPATA13,missense_variant,p.Leu1001Val,ENST00000424834,;SPATA13,missense_variant,p.Leu274Val,ENST00000434675,;SPATA13,downstream_gene_variant,,ENST00000454083,;RP11-307N16.6,missense_variant,p.Leu879Val,ENST00000382141,;	3474	179	132	SUCCESS
AHNAK2	113146	.	GRCh37	14	105407215	105407215	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	121	0	ENST00000333244.5:c.14573G>T	p.Gly4858Val	p.G4858V	ENST00000333244	NM_138420.2	4858	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45177.1	14573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACCAAGA	NONE	.	.	.	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Gly4858Val,ENST00000333244,;AHNAK2,5_prime_UTR_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	14693	121	90	SUCCESS
RP11-468E2.9	0	.	GRCh37	14	24517969	24517969	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	296	169	571	0	ENST00000606840.1:n.624T>A		p.*208*	ENST00000606840				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32054.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATTAGGGT	NONE	.	3240	.	.	.	ENSP00000340467	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342740	Transcript	.	.	ENSG00000186648	20272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16B_HUMAN	LRRC16B	HGNC	.	.	UPI0000DBEF11	SNV	LRRC16B,upstream_gene_variant,,ENST00000342740,;LRRC16B,upstream_gene_variant,,ENST00000334420,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000558293,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000559270,;RP11-468E2.9,intron_variant,,ENST00000558622,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000606840,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000397065,;	.	571	466	SUCCESS
NOP10	55505	.	GRCh37	15	34634207	34634207	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	106	0	ENST00000328848.4:c.157A>G	p.Lys53Glu	p.K53E	ENST00000328848	NM_018648.3	53	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10037.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTGAAGC	NONE	.	.	hmmpanther:PTHR13305,hmmpanther:PTHR13305:SF0,Pfam_domain:PF04135,Gene3D:2apoB00,Superfamily_domains:SSF144210	.	.	ENSP00000332198	.	2/2	.	.	.	.	.	.	.	.	COSM1372505	2/2	PASS	ENST00000328848	Transcript	1	.	ENSG00000182117	14378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.077)	.	deleterious(0.01)	1	NOP10_HUMAN	NOP10	HGNC	.	.	UPI0000022AEE	SNV	NOP10,missense_variant,p.Lys53Glu,ENST00000328848,;NOP10,synonymous_variant,p.%3D,ENST00000557912,;NUTM1,upstream_gene_variant,,ENST00000537011,;SLC12A6,upstream_gene_variant,,ENST00000561120,;SLC12A6,upstream_gene_variant,,ENST00000558589,;NUTM1,upstream_gene_variant,,ENST00000438749,;SLC12A6,upstream_gene_variant,,ENST00000397702,;SLC12A6,upstream_gene_variant,,ENST00000354181,;SLC12A6,upstream_gene_variant,,ENST00000458406,;NUTM1,upstream_gene_variant,,ENST00000333756,;SLC12A6,upstream_gene_variant,,ENST00000559236,;SLC12A6,upstream_gene_variant,,ENST00000559484,;SLC12A6,upstream_gene_variant,,ENST00000558667,;SLC12A6,upstream_gene_variant,,ENST00000559664,;SLC12A6,upstream_gene_variant,,ENST00000561080,;SLC12A6,upstream_gene_variant,,ENST00000559523,;	261	106	83	SUCCESS
TLN2	83660	.	GRCh37	15	62985037	62985037	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	85	0	ENST00000306829.6:c.1114-2A>G		p.X372_splice	ENST00000306829	NM_015059.2	372		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32261.1	.	MUTECT|MUSE	.	TTTTCAGGATT	NONE	.	.	.	.	.	ENSP00000453508	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	HIGH	11/57	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,splice_acceptor_variant,,ENST00000561311,;TLN2,splice_acceptor_variant,,ENST00000306829,;RP11-625H11.2,upstream_gene_variant,,ENST00000559589,;	.	86	83	SUCCESS
STOML1	9399	.	GRCh37	15	74277025	74277025	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777692982	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	73	0	ENST00000541638.1:c.849C>A	p.Ser283Arg	p.S283R	ENST00000541638		283	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS10254.1	978	MUTECT|MUSE	.	TAGGCGCTTTG	NONE	.	.	hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF70,Pfam_domain:PF02036,Gene3D:3.30.1050.10,Superfamily_domains:SSF55718	.	.	ENSP00000319323	.	6/7	.	.	.	.	.	.	.	.	rs777692982,COSM964715	6/7	PASS	ENST00000316900	Transcript	.	.	ENSG00000067221	14560	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.009)	.	tolerated(0.24)	0,1	STML1_HUMAN	STOML1	HGNC	H3BVF2_HUMAN	.	UPI00000377B6	SNV	STOML1,missense_variant,p.Ser276Arg,ENST00000316911,;STOML1,missense_variant,p.Ser275Arg,ENST00000564777,;STOML1,missense_variant,p.Ser326Arg,ENST00000316900,;STOML1,missense_variant,p.Ser283Arg,ENST00000541638,;STOML1,missense_variant,p.Ser238Arg,ENST00000561656,;STOML1,intron_variant,,ENST00000359750,;STOML1,downstream_gene_variant,,ENST00000566081,;STOML1,downstream_gene_variant,,ENST00000565240,;STOML1,downstream_gene_variant,,ENST00000562453,;STOML1,non_coding_transcript_exon_variant,,ENST00000561480,;STOML1,downstream_gene_variant,,ENST00000567052,;STOML1,downstream_gene_variant,,ENST00000563229,;	1103	73	65	SUCCESS
SH3GL3	6457	.	GRCh37	15	84237305	84237305	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	76	0	ENST00000427482.2:c.212T>C	p.Leu71Pro	p.L71P	ENST00000427482	NM_003027.3	71	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS10325.2	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTGAACA	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF120,hmmpanther:PTHR10661,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000391372	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000427482	Transcript	.	.	ENSG00000140600	10832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	SH3G3_HUMAN	SH3GL3	HGNC	Q9UMB8_HUMAN	.	UPI0000135935	SNV	SH3GL3,missense_variant,p.Leu79Pro,ENST00000324537,;SH3GL3,missense_variant,p.Leu71Pro,ENST00000427482,;SH3GL3,missense_variant,p.Leu79Pro,ENST00000434347,;SH3GL3,missense_variant,p.Leu71Pro,ENST00000535412,;SH3GL3,3_prime_UTR_variant,,ENST00000563901,;SH3GL3,downstream_gene_variant,,ENST00000492099,;	518	76	62	SUCCESS
NTRK3	4916	.	GRCh37	15	88670420	88670420	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	71	208	0	ENST00000360948.2:c.1266C>G	p.Thr422=	p.T422=	ENST00000360948	NM_001012338.2	422	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS32322.1	1266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGGTCAC	NONE	.	.	hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416	.	.	ENSP00000354207	.	11/19	.	.	.	.	.	.	.	.	COSM1317737,COSM1317738,COSM1317736	11/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,synonymous_variant,p.%3D,ENST00000317501,;NTRK3,synonymous_variant,p.%3D,ENST00000558676,;NTRK3,synonymous_variant,p.%3D,ENST00000557856,;NTRK3,synonymous_variant,p.%3D,ENST00000560017,;NTRK3,synonymous_variant,p.%3D,ENST00000540489,;NTRK3,synonymous_variant,p.%3D,ENST00000357724,;NTRK3,synonymous_variant,p.%3D,ENST00000394480,;NTRK3,synonymous_variant,p.%3D,ENST00000542733,;NTRK3,synonymous_variant,p.%3D,ENST00000355254,;NTRK3,synonymous_variant,p.%3D,ENST00000360948,;NTRK3,non_coding_transcript_exon_variant,,ENST00000558306,;NTRK3,upstream_gene_variant,,ENST00000557897,;NTRK3,downstream_gene_variant,,ENST00000559764,;	1428	208	157	SUCCESS
ZFHX3	463	.	GRCh37	16	72923737	72923737	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs187631913	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	46	0	ENST00000268489.5:c.3341G>A	p.Arg1114Gln	p.R1114Q	ENST00000268489	NM_006885.3	1114	cGa/cAa	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS10908.1	3341	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTCGCTGG	NONE	by1000G	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,SMART_domains:SM00451	T:0	.	ENSP00000268489	T:0	4/10	.	.	.	.	.	.	.	.	rs187631913	4/10	PASS	ENST00000268489	Transcript	.	T:0.0002	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.459)	T:0	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Arg200Gln,ENST00000397992,;ZFHX3,missense_variant,p.Arg1114Gln,ENST00000268489,;ZFHX3,upstream_gene_variant,,ENST00000563625,;	4014	46	45	SUCCESS
ANKRD11	29123	.	GRCh37	16	89337284	89337284	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	76	0	ENST00000301030.4:c.7747A>T	p.Asn2583Tyr	p.N2583Y	ENST00000301030	NM_001256183.1	2583	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS32513.1	7747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGTTGAAAC	NONE	.	.	hmmpanther:PTHR24145	.	.	ENSP00000301030	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Asn2583Tyr,ENST00000378330,;ANKRD11,missense_variant,p.Asn2583Tyr,ENST00000301030,;ANKRD11,missense_variant,p.Asn144Tyr,ENST00000562194,;AC137932.1,3_prime_UTR_variant,,ENST00000602042,;RP11-46C24.5,upstream_gene_variant,,ENST00000566427,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;	8208	76	55	SUCCESS
NCOR1	9611	.	GRCh37	17	15965046	15965046	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	38	105	0	ENST00000268712.3:c.5550A>T	p.Glu1850Asp	p.E1850D	ENST00000268712	NM_006311.3	1850	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11175.1	5550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTCTAA	NONE	.	.	hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	.	.	ENSP00000268712	.	37/46	.	.	.	.	.	.	.	.	.	37/46	PASS	ENST00000268712	Transcript	.	.	ENSG00000141027	7672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	NCOR1_HUMAN	NCOR1	HGNC	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN	.	UPI000013D7D5	SNV	NCOR1,missense_variant,p.Glu434Asp,ENST00000395857,;NCOR1,missense_variant,p.Glu481Asp,ENST00000395849,;NCOR1,missense_variant,p.Glu1850Asp,ENST00000268712,;NCOR1,intron_variant,,ENST00000395851,;NCOR1,upstream_gene_variant,,ENST00000580554,;NCOR1,upstream_gene_variant,,ENST00000579606,;NCOR1,non_coding_transcript_exon_variant,,ENST00000470782,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;NCOR1,upstream_gene_variant,,ENST00000464381,;NCOR1,downstream_gene_variant,,ENST00000584872,;NCOR1,upstream_gene_variant,,ENST00000472189,;	5808	105	106	SUCCESS
SUPT6H	6830	.	GRCh37	17	27027983	27027983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	98	0	ENST00000314616.6:c.4831C>T	p.Pro1611Ser	p.P1611S	ENST00000314616	NM_003170.3	1611	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32596.1	4831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCAGTG	NONE	.	.	PIRSF_domain:PIRSF036947,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145	.	.	ENSP00000319104	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.45)	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,missense_variant,p.Pro1611Ser,ENST00000314616,;SUPT6H,missense_variant,p.Pro1611Ser,ENST00000347486,;PROCA1,downstream_gene_variant,,ENST00000581289,;PROCA1,downstream_gene_variant,,ENST00000301039,;PROCA1,downstream_gene_variant,,ENST00000439862,;PROCA1,downstream_gene_variant,,ENST00000415329,;PROCA1,downstream_gene_variant,,ENST00000422880,;PROCA1,downstream_gene_variant,,ENST00000584073,;PROCA1,downstream_gene_variant,,ENST00000579650,;PROCA1,downstream_gene_variant,,ENST00000578097,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000583340,;PROCA1,downstream_gene_variant,,ENST00000495203,;SUPT6H,downstream_gene_variant,,ENST00000580471,;PROCA1,downstream_gene_variant,,ENST00000473751,;	5114	98	123	SUCCESS
COL1A1	1277	.	GRCh37	17	48266329	48266329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	145	0	ENST00000225964.5:c.2980C>A	p.Arg994Ser	p.R994S	ENST00000225964	NM_000088.3	994	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11561.1	2980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGTTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54	.	.	ENSP00000225964	.	41/51	.	.	.	.	.	.	.	.	.	41/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,missense_variant,p.Arg994Ser,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000463440,;	3099	145	103	SUCCESS
SOCS3	9021	.	GRCh37	17	76354878	76354878	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1480367425	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	39	117	0	ENST00000330871.2:c.299del	p.Gly100AlafsTer79	p.G100Afs*79	ENST00000330871	NM_003955.4	100	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS11756.1	299	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCTGCCCCCC	NONE	.	.	Superfamily_domains:SSF55550,SMART_domains:SM00252,Pfam_domain:PF00017,Gene3D:3.30.505.10,hmmpanther:PTHR10385:SF4,hmmpanther:PTHR10385,PROSITE_profiles:PS50001	.	.	ENSP00000330341	.	2/2	.	.	.	.	.	.	.	.	COSM1386413	2/2	PASS	ENST00000330871	Transcript	.	.	ENSG00000184557	19391	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	SOCS3_HUMAN	SOCS3	HGNC	Q6FI39_HUMAN	.	UPI00000473FF	deletion	SOCS3,frameshift_variant,p.Gly100AlafsTer79,ENST00000330871,;SOCS3,downstream_gene_variant,,ENST00000587578,;RP11-806H10.4,upstream_gene_variant,,ENST00000587575,;RP11-806H10.4,upstream_gene_variant,,ENST00000592569,;	715	117	147	SUCCESS
CARD14	79092	.	GRCh37	17	78164640	78164640	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	81	0	ENST00000344227.2:c.1031G>A	p.Arg344Lys	p.R344K	ENST00000344227	NM_024110.4	344	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS11768.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGGGAGA	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF1	.	.	ENSP00000458715	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000573882	Transcript	.	.	ENSG00000141527	16446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	CAR14_HUMAN	CARD14	HGNC	I3L4Q8_HUMAN,I3L1Z7_HUMAN	.	UPI000013D81B	SNV	CARD14,missense_variant,p.Arg107Lys,ENST00000392434,;CARD14,missense_variant,p.Arg344Lys,ENST00000570421,;CARD14,missense_variant,p.Arg344Lys,ENST00000573882,;CARD14,missense_variant,p.Arg344Lys,ENST00000344227,;CARD14,non_coding_transcript_exon_variant,,ENST00000573754,;CARD14,upstream_gene_variant,,ENST00000574148,;CARD14,splice_acceptor_variant,,ENST00000575500,;CARD14,missense_variant,p.Arg141Lys,ENST00000571450,;CARD14,non_coding_transcript_exon_variant,,ENST00000571861,;CARD14,downstream_gene_variant,,ENST00000572838,;CARD14,upstream_gene_variant,,ENST00000575666,;	1567	81	61	SUCCESS
OSBPL1A	114876	.	GRCh37	18	21758132	21758132	+	synonymous_variant	Silent	SNP	G	G	T	rs539256061	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	94	0	ENST00000319481.3:c.1938C>A	p.Ser646=	p.S646=	ENST00000319481	NM_080597.3	646	tcC/tcA	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS11884.1	1938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGGAGAT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF53,Pfam_domain:PF01237,Superfamily_domains:0051579	A:0	.	ENSP00000320291	A:0	21/28	.	.	.	.	.	.	.	.	rs539256061	21/28	PASS	ENST00000319481	Transcript	.	A:0.0004	ENSG00000141447	16398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	OSBL1_HUMAN	OSBPL1A	HGNC	Q96IZ3_HUMAN,Q6GSK5_HUMAN,B0YJ56_HUMAN	.	UPI0000130E95	SNV	OSBPL1A,synonymous_variant,p.%3D,ENST00000319481,;OSBPL1A,synonymous_variant,p.%3D,ENST00000357041,;OSBPL1A,synonymous_variant,p.%3D,ENST00000399443,;OSBPL1A,intron_variant,,ENST00000578013,;OSBPL1A,intron_variant,,ENST00000578055,;	2145	94	78	SUCCESS
CCDC102B	79839	.	GRCh37	18	66678323	66678323	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	292	19	244	0	ENST00000319445.6:c.1416C>T	p.Leu472=	p.L472=	ENST00000319445	NM_001093729.1	472	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11996.2	1416	MUTECT|MUSE	.	GGACTCAATCA	NONE	.	.	hmmpanther:PTHR13140:SF295,hmmpanther:PTHR13140	.	.	ENSP00000353377	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000360242	Transcript	.	.	ENSG00000150636	26295	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C102B_HUMAN	CCDC102B	HGNC	J3QLG6_HUMAN,J3QL62_HUMAN,J3KRT2_HUMAN,J3KRG3_HUMAN,A1A4H1_HUMAN	.	UPI0000201E87	SNV	CCDC102B,synonymous_variant,p.%3D,ENST00000584156,;CCDC102B,synonymous_variant,p.%3D,ENST00000319445,;CCDC102B,synonymous_variant,p.%3D,ENST00000360242,;	1533	244	312	SUCCESS
HSPB6	126393	.	GRCh37	19	36247733	36247733	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	69	0	ENST00000004982.3:c.177C>T	p.Ser59=	p.S59=	ENST00000004982	NM_144617.2	59	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12475.1	177	MUTECT|MUSE	.	GCCACGCTGGG	NONE	.	.	hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF109,Pfam_domain:PF00525,PIRSF_domain:PIRSF036514,Superfamily_domains:SSF49764	.	.	ENSP00000468057	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000592984	Transcript	.	.	ENSG00000004776	26511	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HSPB6_HUMAN	HSPB6	HGNC	.	.	UPI000012CCD5	SNV	HSPB6,synonymous_variant,p.%3D,ENST00000004982,;HSPB6,synonymous_variant,p.%3D,ENST00000592984,;HSPB6,synonymous_variant,p.%3D,ENST00000587965,;C19orf55,upstream_gene_variant,,ENST00000421853,;C19orf55,upstream_gene_variant,,ENST00000542134,;LIN37,downstream_gene_variant,,ENST00000587751,;C19orf55,upstream_gene_variant,,ENST00000301165,;C19orf55,upstream_gene_variant,,ENST00000537459,;C19orf55,upstream_gene_variant,,ENST00000544099,;C19orf55,upstream_gene_variant,,ENST00000396908,;LIN37,downstream_gene_variant,,ENST00000301159,;C19orf55,upstream_gene_variant,,ENST00000444637,;C19orf55,upstream_gene_variant,,ENST00000545674,;C19orf55,upstream_gene_variant,,ENST00000536950,;LIN37,downstream_gene_variant,,ENST00000591163,;AC002398.11,upstream_gene_variant,,ENST00000591091,;AC002398.12,downstream_gene_variant,,ENST00000587767,;C19orf55,upstream_gene_variant,,ENST00000544876,;LIN37,downstream_gene_variant,,ENST00000591076,;AC002398.9,downstream_gene_variant,,ENST00000591613,;C19orf55,upstream_gene_variant,,ENST00000601095,;LIN37,downstream_gene_variant,,ENST00000590890,;C19orf55,upstream_gene_variant,,ENST00000600988,;C19orf55,upstream_gene_variant,,ENST00000535581,;LIN37,downstream_gene_variant,,ENST00000595455,;LIN37,downstream_gene_variant,,ENST00000590706,;C19orf55,upstream_gene_variant,,ENST00000539771,;LIN37,downstream_gene_variant,,ENST00000592871,;LIN37,downstream_gene_variant,,ENST00000587108,;	374	69	74	SUCCESS
PSMD8	5714	.	GRCh37	19	38867017	38867017	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	117	0	ENST00000215071.4:c.459A>T	p.Gln153His	p.Q153H	ENST00000215071	NM_002812.4	153	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS12515.2	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAATGGAG	NONE	.	.	hmmpanther:PTHR12387	.	.	ENSP00000215071	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000215071	Transcript	.	.	ENSG00000099341	9566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.54)	.	PSMD8_HUMAN	PSMD8	HGNC	R4GMR5_HUMAN,K7ERW6_HUMAN	.	UPI000059D712	SNV	PSMD8,missense_variant,p.Gln90His,ENST00000602911,;PSMD8,missense_variant,p.Gln153His,ENST00000215071,;PSMD8,missense_variant,p.Gln97His,ENST00000592561,;PSMD8,5_prime_UTR_variant,,ENST00000592035,;PSMD8,5_prime_UTR_variant,,ENST00000591250,;PSMD8,intron_variant,,ENST00000585598,;PSMD8,non_coding_transcript_exon_variant,,ENST00000591216,;PSMD8,non_coding_transcript_exon_variant,,ENST00000592001,;PSMD8,upstream_gene_variant,,ENST00000590331,;	525	117	84	SUCCESS
PRKD2	25865	.	GRCh37	19	47200429	47200429	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	77	0	ENST00000291281.4:c.1302C>T	p.Thr434=	p.T434=	ENST00000291281		434	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12689.1	1302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTGGTCGT	NONE	.	.	Superfamily_domains:SSF50729,PIRSF_domain:PIRSF000552,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22968,PROSITE_profiles:PS50003	.	.	ENSP00000393978	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,synonymous_variant,p.%3D,ENST00000433867,;PRKD2,synonymous_variant,p.%3D,ENST00000291281,;PRKD2,synonymous_variant,p.%3D,ENST00000595515,;PRKD2,synonymous_variant,p.%3D,ENST00000600194,;PRKD2,synonymous_variant,p.%3D,ENST00000601806,;PRKD2,downstream_gene_variant,,ENST00000601605,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;	1780	77	55	SUCCESS
ZNF808	388558	.	GRCh37	19	53056997	53056997	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs753523035	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	143	0	ENST00000359798.4:c.828C>G	p.Cys276Trp	p.C276W	ENST00000359798	NM_001039886.3	276	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS46167.1	828	RADIA|MUTECT|MUSE	.	GCATGCCATCG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000352846	.	5/5	.	.	.	.	.	.	.	.	rs753523035	5/5	PASS	ENST00000359798	Transcript	.	.	ENSG00000198482	33230	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.934)	.	tolerated(0.19)	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,missense_variant,p.Cys276Trp,ENST00000359798,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Cys207Trp,ENST00000487863,;	1008	143	111	SUCCESS
ZNF83	55769	.	GRCh37	19	53117612	53117612	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	52	133	0	ENST00000301096.3:c.206A>C	p.His69Pro	p.H69P	ENST00000301096	NM_018300.3	69	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS12854.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTATGAGAA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108	.	.	ENSP00000472619	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597597	Transcript	.	.	ENSG00000167766	13158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0.02)	.	ZNF83_HUMAN	ZNF83	HGNC	H9XFB5_HUMAN	.	UPI000013E6CF	SNV	ZNF83,missense_variant,p.His69Pro,ENST00000301096,;ZNF83,missense_variant,p.His69Pro,ENST00000597597,;ZNF83,missense_variant,p.His69Pro,ENST00000541777,;ZNF83,missense_variant,p.His69Pro,ENST00000536937,;ZNF83,missense_variant,p.His69Pro,ENST00000391789,;ZNF83,missense_variant,p.His69Pro,ENST00000544146,;ZNF83,missense_variant,p.His69Pro,ENST00000545872,;ZNF83,3_prime_UTR_variant,,ENST00000594682,;ZNF83,intron_variant,,ENST00000601257,;ZNF83,intron_variant,,ENST00000600714,;ZNF83,downstream_gene_variant,,ENST00000598536,;ZNF83,downstream_gene_variant,,ENST00000597161,;ZNF83,downstream_gene_variant,,ENST00000596930,;ZNF83,downstream_gene_variant,,ENST00000595171,;ZNF83,downstream_gene_variant,,ENST00000596440,;ZNF83,downstream_gene_variant,,ENST00000601140,;ZNF83,downstream_gene_variant,,ENST00000595939,;ZNF83,downstream_gene_variant,,ENST00000601237,;ZNF83,downstream_gene_variant,,ENST00000602232,;	2460	133	132	SUCCESS
MYO1F	4542	.	GRCh37	19	8587279	8587279	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1431657549	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	41	0	ENST00000338257.8:c.3202A>G	p.Ile1068Val	p.I1068V	ENST00000338257	NM_012335.3	1068	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42494.1	3202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGACCT	NONE	.	.	Prints_domain:PR00452,Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF14604,Gene3D:2.30.30.40,PROSITE_profiles:PS50002	.	.	ENSP00000344871	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000338257	Transcript	.	.	ENSG00000142347	7600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	tolerated(0.11)	.	MYO1F_HUMAN	MYO1F	HGNC	Q14779_HUMAN,M0QXU2_HUMAN	.	UPI00001678F0	SNV	MYO1F,missense_variant,p.Ile1068Val,ENST00000338257,;MYO1F,downstream_gene_variant,,ENST00000596245,;MYO1F,downstream_gene_variant,,ENST00000600885,;MYO1F,downstream_gene_variant,,ENST00000598005,;	3470	41	38	SUCCESS
PALMD	54873	.	GRCh37	1	100152744	100152744	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs751532207	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	97	339	0	ENST00000263174.4:c.513A>G		p.X171_splice	ENST00000263174	NM_017734.4	171	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS758.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAAGGTAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5,Pfam_domain:PF03285	.	.	ENSP00000263174	.	6/8	.	.	.	.	.	.	.	.	rs751532207,COSM892868	6/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,synonymous_variant,p.%3D,ENST00000605497,;PALMD,synonymous_variant,p.%3D,ENST00000263174,;PALMD,splice_region_variant,,ENST00000496843,;	888	339	285	SUCCESS
CELSR2	1952	.	GRCh37	1	109814231	109814231	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	98	0	ENST00000271332.3:c.7813A>T	p.Ile2605Phe	p.I2605F	ENST00000271332	NM_001408.2	2605	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS796.1	7813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCATCTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Pfam_domain:PF00002	.	.	ENSP00000271332	.	28/34	.	.	.	.	.	.	.	.	.	28/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Ile2605Phe,ENST00000271332,;CELSR2,non_coding_transcript_exon_variant,,ENST00000489018,;CELSR2,non_coding_transcript_exon_variant,,ENST00000498157,;	7874	98	85	SUCCESS
ETV3	2117	.	GRCh37	1	157103988	157103988	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs756878385	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	41	82	0	ENST00000368192.4:c.316A>C	p.Thr106Pro	p.T106P	ENST00000368192	NM_001145312.1	106	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS44250.1	316	RADIA|MUTECT|MUSE	.	TTTTGTTTTAT	NONE	byFrequency	.	PROSITE_profiles:PS50061,hmmpanther:PTHR11849:SF30,hmmpanther:PTHR11849,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454	.	.	ENSP00000357175	.	4/5	.	.	.	.	.	.	.	.	rs756878385	4/5	PASS	ENST00000368192	Transcript	.	.	ENSG00000117036	3492	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ETV3_HUMAN	ETV3	HGNC	.	.	UPI0000071047	SNV	ETV3,missense_variant,p.Thr106Pro,ENST00000326786,;ETV3,missense_variant,p.Thr106Pro,ENST00000368192,;ETV3,downstream_gene_variant,,ENST00000460850,;	381	82	105	SUCCESS
ETV3	2117	.	GRCh37	1	157104005	157104005	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	75	0	ENST00000368192.4:c.299A>G	p.Lys100Arg	p.K100R	ENST00000368192	NM_001145312.1	100	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS44250.1	299	RADIA|MUTECT|MUSE	.	TCCTCTTGTTG	NONE	.	.	PROSITE_profiles:PS50061,hmmpanther:PTHR11849:SF30,hmmpanther:PTHR11849,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454	.	.	ENSP00000357175	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000368192	Transcript	.	.	ENSG00000117036	3492	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ETV3_HUMAN	ETV3	HGNC	.	.	UPI0000071047	SNV	ETV3,missense_variant,p.Lys100Arg,ENST00000326786,;ETV3,missense_variant,p.Lys100Arg,ENST00000368192,;ETV3,downstream_gene_variant,,ENST00000460850,;	364	75	95	SUCCESS
C1orf112	55732	.	GRCh37	1	169819420	169819420	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	61	0	ENST00000286031.6:c.2178A>C	p.Glu726Asp	p.E726D	ENST00000286031	NM_018186.2	726	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS1285.1	2178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAAGAGAT	NONE	.	.	hmmpanther:PTHR16071,hmmpanther:PTHR16071:SF1,Pfam_domain:PF14868	.	.	ENSP00000286031	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000286031	Transcript	.	.	ENSG00000000460	25565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	CA112_HUMAN	C1orf112	HGNC	.	.	UPI000006E467	SNV	C1orf112,missense_variant,p.Glu726Asp,ENST00000286031,;C1orf112,missense_variant,p.Glu726Asp,ENST00000359326,;SCYL3,3_prime_UTR_variant,,ENST00000367771,;SCYL3,downstream_gene_variant,,ENST00000367770,;SCYL3,downstream_gene_variant,,ENST00000423670,;SCYL3,downstream_gene_variant,,ENST00000367772,;C1orf112,non_coding_transcript_exon_variant,,ENST00000459772,;C1orf112,non_coding_transcript_exon_variant,,ENST00000498289,;	2878	61	95	SUCCESS
TOR3A	64222	.	GRCh37	1	179063230	179063230	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	94	0	ENST00000367627.3:c.821A>T	p.Asn274Ile	p.N274I	ENST00000367627	NM_022371.3	274	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS1329.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAATCTCA	NONE	.	.	hmmpanther:PTHR10760,hmmpanther:PTHR10760:SF3,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000356599	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000367627	Transcript	.	.	ENSG00000186283	11997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TOR3A_HUMAN	TOR3A	HGNC	.	.	UPI000006F204	SNV	TOR3A,missense_variant,p.Asn166Ile,ENST00000447595,;TOR3A,missense_variant,p.Asn274Ile,ENST00000367627,;TOR3A,missense_variant,p.Asn274Ile,ENST00000352445,;TOR3A,splice_region_variant,,ENST00000472001,;	1573	94	125	SUCCESS
DNAH14	127602	.	GRCh37	1	225525877	225525877	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	181	234	0	ENST00000445597.2:c.7717-84A>T		p.*2573*	ENST00000445597		1109		0	.	.	.	.	.	T	N/Y	protein_coding	.	.	10147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAAATTTT	NONE	.	.	hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000414402	.	66/84	.	.	.	.	.	.	.	.	.	66/84	PASS	ENST00000430092	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI000192C36D	SNV	DNAH14,missense_variant,p.Asn3383Tyr,ENST00000430092,;DNAH14,missense_variant,p.Asn3383Tyr,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,missense_variant,p.Asn1109Tyr,ENST00000327794,;	10362	234	375	SUCCESS
MACF1	23499	.	GRCh37	1	39824861	39824862	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	376	51	468	0	ENST00000372915.3:c.12189dup	p.Val4064SerfsTer4	p.V4064Sfs*4	ENST00000372915		4062	caa/cAaa	0	.	.	.	.	.	A	Q/QX	protein_coding	YES	CCDS435.1	5983-5984	VARSCANI*|PINDEL	.	AACTCCAAAAA	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	42/94	.	.	.	.	.	.	.	.	.	42/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	5	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	insertion	MACF1,frameshift_variant,p.Val1131SerfsTer4,ENST00000372925,;MACF1,frameshift_variant,p.Val1997SerfsTer4,ENST00000361689,;MACF1,frameshift_variant,p.Val2499SerfsTer4,ENST00000289893,;MACF1,frameshift_variant,p.Val4059SerfsTer4,ENST00000564288,;MACF1,frameshift_variant,p.Val1997SerfsTer4,ENST00000539005,;MACF1,frameshift_variant,p.Val4064SerfsTer4,ENST00000372915,;MACF1,frameshift_variant,p.Val1997SerfsTer4,ENST00000317713,;MACF1,frameshift_variant,p.Val4096SerfsTer4,ENST00000567887,;MACF1,frameshift_variant,p.Val1997SerfsTer4,ENST00000545844,;MACF1,downstream_gene_variant,,ENST00000530262,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;	6091-6092	468	427	SUCCESS
SCMH1	22955	.	GRCh37	1	41608748	41608748	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	61	0	ENST00000326197.7:c.184A>T	p.Met62Leu	p.M62L	ENST00000326197		62	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS30688.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATACTGA	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000386079	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000402904	Transcript	.	.	ENSG00000010803	19003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	SCMH1_HUMAN	SCMH1	HGNC	.	.	UPI000006FD9B	SNV	SCMH1,start_lost,p.Met1?,ENST00000361191,;SCMH1,start_lost,p.Met1?,ENST00000372595,;SCMH1,start_lost,p.Met1?,ENST00000372596,;SCMH1,start_lost,p.Met1?,ENST00000397171,;SCMH1,missense_variant,p.Met42Leu,ENST00000397174,;SCMH1,missense_variant,p.Met62Leu,ENST00000326197,;SCMH1,missense_variant,p.Met15Leu,ENST00000372597,;SCMH1,missense_variant,p.Met15Leu,ENST00000361705,;SCMH1,missense_variant,p.Met62Leu,ENST00000402904,;SCMH1,missense_variant,p.Met15Leu,ENST00000456518,;SCMH1,missense_variant,p.Met72Leu,ENST00000337495,;	553	61	49	SUCCESS
JAK1	3716	.	GRCh37	1	65311203	65311203	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	77	0	ENST00000342505.4:c.2108G>T	p.Ser703Ile	p.S703I	ENST00000342505	NM_002227.2	703	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS41346.1	2108	RADIA|MUTECT|MUSE	.	AGTAGCTCAGG	SITE|p.S703I|c.2108G>T|5	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	15/25	.	.	.	.	.	.	.	.	COSM96541,COSM305942	15/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Ser703Ile,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000471473,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000481702,;	2357	77	58	SUCCESS
JAK1	3716	.	GRCh37	1	65311219	65311219	+	synonymous_variant	Silent	SNP	G	G	A	rs745770736	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	85	0	ENST00000342505.4:c.2092C>T	p.Leu698=	p.L698=	ENST00000342505	NM_002227.2	698	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS41346.1	2092	RADIA|MUTECT|MUSE	.	GGCCAGCTGTT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	15/25	.	.	.	.	.	.	.	.	rs745770736	15/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,synonymous_variant,p.%3D,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000471473,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000481702,;	2341	85	62	SUCCESS
WDR63	0	.	GRCh37	1	85537689	85537689	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	73	262	1	ENST00000294664.6:c.64+1G>A		p.X22_splice	ENST00000294664	NM_145172.3	22		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS702.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGTAGGA	NONE	.	.	.	.	.	ENSP00000294664	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000294664	Transcript	.	.	ENSG00000162643	30711	.	.	HIGH	2/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR63_HUMAN	WDR63	HGNC	.	.	UPI00000744F1	SNV	WDR63,splice_donor_variant,,ENST00000326813,;WDR63,splice_donor_variant,,ENST00000528899,;WDR63,splice_donor_variant,,ENST00000370596,;WDR63,splice_donor_variant,,ENST00000294664,;WDR63,splice_donor_variant,,ENST00000464801,;	.	263	193	SUCCESS
RWDD3	25950	.	GRCh37	1	95710153	95710153	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	52	140	0	ENST00000370202.4:c.472A>G	p.Ile158Val	p.I158V	ENST00000370202	NM_015485.4	158	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41357.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAATTGTG	NONE	.	.	hmmpanther:PTHR15628	.	.	ENSP00000359221	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000370202	Transcript	.	.	ENSG00000122481	21393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.23)	.	RWDD3_HUMAN	RWDD3	HGNC	.	.	UPI000059D012	SNV	RWDD3,missense_variant,p.Ile143Val,ENST00000429514,;RWDD3,missense_variant,p.Ile158Val,ENST00000263893,;RWDD3,missense_variant,p.Ile158Val,ENST00000370202,;TMEM56-RWDD3,3_prime_UTR_variant,,ENST00000604534,;TMEM56-RWDD3,intron_variant,,ENST00000604203,;RP11-57H12.5,intron_variant,,ENST00000444665,;RP11-57H12.5,downstream_gene_variant,,ENST00000598739,;RWDD3,non_coding_transcript_exon_variant,,ENST00000497058,;RWDD3,non_coding_transcript_exon_variant,,ENST00000495272,;RWDD3,intron_variant,,ENST00000473397,;RWDD3,downstream_gene_variant,,ENST00000492639,;RWDD3,upstream_gene_variant,,ENST00000460571,;	548	140	125	SUCCESS
MKKS	8195	.	GRCh37	20	10393869	10393869	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	107	0	ENST00000347364.3:c.294T>G	p.Leu98=	p.L98=	ENST00000347364	NM_170784.2	98	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13111.1	294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAAAGAAT	NONE	.	.	hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF12,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592	.	.	ENSP00000246062	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000347364	Transcript	1	.	ENSG00000125863	7108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKKS_HUMAN	MKKS	HGNC	B7Z3W9_HUMAN	.	UPI000012F199	SNV	MKKS,synonymous_variant,p.%3D,ENST00000399054,;MKKS,synonymous_variant,p.%3D,ENST00000347364,;MKKS,downstream_gene_variant,,ENST00000609375,;	1057	107	79	SUCCESS
CENPB	1059	.	GRCh37	20	3765921	3765921	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	45	0	ENST00000379751.4:c.1210G>C	p.Glu404Gln	p.E404Q	ENST00000379751	NM_001810.5	404	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS13064.1	1210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCACTCT	NONE	.	.	hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF194,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000369075	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379751	Transcript	.	.	ENSG00000125817	1852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.11)	.	CENPB_HUMAN	CENPB	HGNC	Q96EI4_HUMAN,Q71VN4_HUMAN,Q71VN3_HUMAN	.	UPI00001274F8	SNV	CENPB,missense_variant,p.Glu404Gln,ENST00000379751,;CDC25B,upstream_gene_variant,,ENST00000379598,;CDC25B,upstream_gene_variant,,ENST00000344256,;SPEF1,upstream_gene_variant,,ENST00000379756,;SPEF1,upstream_gene_variant,,ENST00000471499,;SPEF1,upstream_gene_variant,,ENST00000463490,;	1417	45	33	SUCCESS
CENPB	1059	.	GRCh37	20	3766831	3766831	+	synonymous_variant	Silent	SNP	G	G	C	rs767586180	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	15	0	ENST00000379751.4:c.300C>G	p.Leu100=	p.L100=	ENST00000379751	NM_001810.5	100	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13064.1	300	MUTECT|MUSE	.	TCCTTGAGGAT	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00674,Pfam_domain:PF03221,Gene3D:1.10.10.60,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF194,PROSITE_profiles:PS51253	.	.	ENSP00000369075	.	1/1	.	.	.	.	.	.	.	.	rs767586180,COSM3713275	1/1	PASS	ENST00000379751	Transcript	.	.	ENSG00000125817	1852	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CENPB_HUMAN	CENPB	HGNC	Q96EI4_HUMAN,Q71VN4_HUMAN,Q71VN3_HUMAN	.	UPI00001274F8	SNV	CENPB,synonymous_variant,p.%3D,ENST00000379751,;CDC25B,upstream_gene_variant,,ENST00000379598,;CDC25B,upstream_gene_variant,,ENST00000344256,;SPEF1,upstream_gene_variant,,ENST00000379756,;SPEF1,upstream_gene_variant,,ENST00000471499,;SPEF1,upstream_gene_variant,,ENST00000463490,;	507	15	9	SUCCESS
CABIN1	23523	.	GRCh37	22	24515513	24515539	+	inframe_deletion	In_Frame_Del	DEL	CCCCAGGGGCTGCCGGCTGGTGCTGAG	CCCCAGGGGCTGCCGGCTGGTGCTGAG	-	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	CCCCAGGGGCTGCCGGCTGGTGCTGAG	CCCCAGGGGCTGCCGGCTGGTGCTGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	86	0	ENST00000263119.5:c.4480_4506del	p.Pro1494_Glu1502del	p.P1494_E1502del	ENST00000263119	NM_012295.3	1494	CCCCAGGGGCTGCCGGCTGGTGCTGAG/-	0	.	.	.	.	.	-	PQGLPAGAE/-	protein_coding	YES	CCDS13823.1	4480-4506	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTTCCCCCAGGGGCTGCCGGCTGGTGCTGAGGAGCA	NONE	.	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	28/37	.	.	.	.	.	.	.	.	.	28/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	deletion	CABIN1,inframe_deletion,p.Pro1494_Glu1502del,ENST00000398319,;CABIN1,inframe_deletion,p.Pro1415_Glu1423del,ENST00000405822,;CABIN1,inframe_deletion,p.Pro1494_Glu1502del,ENST00000263119,;CABIN1,non_coding_transcript_exon_variant,,ENST00000467937,;	4865-4891	86	67	SUCCESS
TBC1D10A	83874	.	GRCh37	22	30690978	30690978	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	94	0	ENST00000215790.7:c.591G>T	p.Gln197His	p.Q197H	ENST00000215790	NM_031937.2	197	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS56227.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTGGCA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF257,hmmpanther:PTHR22957,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000384996	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000403477	Transcript	.	.	ENSG00000099992	23609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TB10A_HUMAN	TBC1D10A	HGNC	F8W9Y7_HUMAN,B5MD46_HUMAN,B3KSB3_HUMAN	.	UPI000022B7BB	SNV	TBC1D10A,missense_variant,p.Gln197His,ENST00000215790,;TBC1D10A,missense_variant,p.Gln109His,ENST00000403362,;TBC1D10A,missense_variant,p.Gln204His,ENST00000403477,;RP1-130H16.18,missense_variant,p.Gln71His,ENST00000434291,;TBC1D10A,missense_variant,p.Gln109His,ENST00000393906,;RP1-130H16.18,missense_variant,p.Gln69His,ENST00000434987,;TBC1D10A,missense_variant,p.Gln130His,ENST00000433426,;RP1-130H16.18,missense_variant,p.Gln58His,ENST00000330168,;RP1-130H16.18,missense_variant,p.Gln71His,ENST00000447976,;RP1-130H16.18,missense_variant,p.Gln71His,ENST00000418047,;TBC1D10A,3_prime_UTR_variant,,ENST00000437122,;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000462073,;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000467596,;TBC1D10A,upstream_gene_variant,,ENST00000466666,;	632	94	95	SUCCESS
HMOX1	3162	.	GRCh37	22	35782898	35782898	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	90	0	ENST00000216117.8:c.365G>T	p.Gly122Val	p.G122V	ENST00000216117	NM_002133.2	122	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS13914.1	365	MUTECT|MUSE|VARSCANS	.	GGTGGGGCGCA	NONE	.	.	hmmpanther:PTHR10720,hmmpanther:PTHR10720:SF1,Pfam_domain:PF01126,Gene3D:1.20.910.10,PIRSF_domain:PIRSF000343,Superfamily_domains:SSF48613	.	.	ENSP00000216117	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000216117	Transcript	.	.	ENSG00000100292	5013	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HMOX1_HUMAN	HMOX1	HGNC	Q6FH11_HUMAN,D2K7W4_HUMAN,B1AHA8_HUMAN	.	UPI000012CAA8	SNV	HMOX1,missense_variant,p.Gly122Val,ENST00000216117,;HMOX1,missense_variant,p.Gly122Val,ENST00000412893,;HMOX1,non_coding_transcript_exon_variant,,ENST00000481190,;HMOX1,upstream_gene_variant,,ENST00000494998,;	704	90	71	SUCCESS
TOB2	10766	.	GRCh37	22	41833266	41833266	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	104	0	ENST00000327492.3:c.84T>C	p.Phe28=	p.F28=	ENST00000327492	NM_016272.3	28	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS14015.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAAACAG	NONE	.	.	hmmpanther:PTHR17537:SF3,hmmpanther:PTHR17537,Pfam_domain:PF07742,SMART_domains:SM00099,Superfamily_domains:SSF160696	.	.	ENSP00000331305	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327492	Transcript	.	.	ENSG00000183864	11980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOB2_HUMAN	TOB2	HGNC	B0QXZ4_HUMAN	.	UPI00001370FC	SNV	TOB2,synonymous_variant,p.%3D,ENST00000434408,;TOB2,synonymous_variant,p.%3D,ENST00000327492,;	791	104	48	SUCCESS
SCUBE1	80274	.	GRCh37	22	43634740	43634740	+	intron_variant	Intron	SNP	G	G	A	rs541868251	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	111	1	ENST00000360835.4:c.844+104C>T		p.*282*	ENST00000360835	NM_173050.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14048.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACGTGGCC	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000354080	.	.	.	.	.	.	.	.	.	.	rs541868251	.	PASS	ENST00000360835	Transcript	.	.	ENSG00000159307	13441	.	.	MODIFIER	7/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCUB1_HUMAN	SCUBE1	HGNC	.	.	UPI000020790F	SNV	SCUBE1,synonymous_variant,p.%3D,ENST00000290460,;SCUBE1,intron_variant,,ENST00000360835,;SCUBE1,intron_variant,,ENST00000449304,;Z82214.2,non_coding_transcript_exon_variant,,ENST00000419643,;	.	112	67	SUCCESS
KIF5C	3800	.	GRCh37	2	149868088	149868088	+	synonymous_variant	Silent	SNP	G	G	A	rs1335876090	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	61	0	ENST00000435030.1:c.2772G>A	p.Lys924=	p.K924=	ENST00000435030		924	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	.	2772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAGCCCAT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365	.	.	ENSP00000393379	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,synonymous_variant,p.%3D,ENST00000397413,;KIF5C,synonymous_variant,p.%3D,ENST00000435030,;KIF5C,synonymous_variant,p.%3D,ENST00000414838,;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000482151,;	3140	61	63	SUCCESS
ITGA6	3655	.	GRCh37	2	173338923	173338923	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1256388995	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	120	0	ENST00000442250.1:c.1033A>G	p.Ile345Val	p.I345V	ENST00000442250		345	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46451.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACATATTC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF9,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000386896	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000409080	Transcript	.	.	ENSG00000091409	6142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.39)	.	ITA6_HUMAN	ITGA6	HGNC	C9JXX7_HUMAN	.	UPI0000EA87E5	SNV	ITGA6,missense_variant,p.Ile345Val,ENST00000264106,;ITGA6,missense_variant,p.Ile345Val,ENST00000375221,;ITGA6,missense_variant,p.Ile301Val,ENST00000343713,;ITGA6,missense_variant,p.Ile301Val,ENST00000458358,;ITGA6,missense_variant,p.Ile192Val,ENST00000412899,;ITGA6,missense_variant,p.Ile345Val,ENST00000442250,;ITGA6,missense_variant,p.Ile306Val,ENST00000264107,;ITGA6,missense_variant,p.Ile187Val,ENST00000409532,;ITGA6,missense_variant,p.Ile306Val,ENST00000409080,;ITGA6,downstream_gene_variant,,ENST00000497107,;	916	120	112	SUCCESS
PDK1	5163	.	GRCh37	2	173429803	173429803	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	69	0	ENST00000282077.3:c.691+2T>G		p.X231_splice	ENST00000282077		231		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2250.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTAAATA	NONE	.	.	.	.	.	ENSP00000282077	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282077	Transcript	.	.	ENSG00000152256	8809	.	.	HIGH	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDK1_HUMAN	PDK1	HGNC	C9JKT3_HUMAN,Q53R49_HUMAN,B7Z7N6_HUMAN,B7Z207_HUMAN	.	UPI0000001C7A	SNV	PDK1,splice_donor_variant,,ENST00000392571,;PDK1,splice_donor_variant,,ENST00000410055,;PDK1,splice_donor_variant,,ENST00000282077,;PDK1,splice_donor_variant,,ENST00000416991,;PDK1,splice_donor_variant,,ENST00000544863,;PDK1,splice_donor_variant,,ENST00000543905,;PDK1,downstream_gene_variant,,ENST00000443353,;PDK1,downstream_gene_variant,,ENST00000439519,;PDK1,splice_donor_variant,,ENST00000431718,;PDK1,downstream_gene_variant,,ENST00000436490,;	.	69	76	SUCCESS
OSR1	130497	.	GRCh37	2	19553489	19553489	+	synonymous_variant	Silent	SNP	T	T	G	rs368651434	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	96	0	ENST00000272223.2:c.78A>C	p.Ala26=	p.A26=	ENST00000272223	NM_145260.2	26	gcA/gcC	0	C:0	.	.	.	.	G	A	protein_coding	YES	CCDS1694.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTGCCTG	NONE	byCluster	.	hmmpanther:PTHR14196,hmmpanther:PTHR14196:SF5	.	C:0.0001	ENSP00000441801	.	1/2	.	.	.	.	.	.	.	.	rs368651434	1/2	PASS	ENST00000536433	Transcript	.	.	ENSG00000143867	8111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSR1_HUMAN	OSR1	HGNC	.	.	UPI000006EA6A	SNV	OSR1,synonymous_variant,p.%3D,ENST00000272223,;OSR1,synonymous_variant,p.%3D,ENST00000536433,;OSR1,downstream_gene_variant,,ENST00000498844,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;	3189	96	90	SUCCESS
HECW2	57520	.	GRCh37	2	197092916	197092916	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	103	264	0	ENST00000260983.3:c.3827C>G	p.Pro1276Arg	p.P1276R	ENST00000260983	NM_020760.1	1276	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS33354.1	3827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATGGGTTA	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000260983	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Pro1276Arg,ENST00000260983,;HECW2,missense_variant,p.Pro920Arg,ENST00000409111,;	4010	264	235	SUCCESS
SMARCAL1	50485	.	GRCh37	2	217341834	217341834	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	43	0	ENST00000357276.4:c.2430G>T		p.X810_splice	ENST00000357276	NM_014140.3	810	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2403.1	2430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGCTGAT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000349823	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000357276	Transcript	.	.	ENSG00000138375	11102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAL1_HUMAN	SMARCAL1	HGNC	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN	.	UPI000000DA30	SNV	SMARCAL1,synonymous_variant,p.%3D,ENST00000357276,;SMARCAL1,synonymous_variant,p.%3D,ENST00000392128,;SMARCAL1,synonymous_variant,p.%3D,ENST00000358207,;AC098820.3,downstream_gene_variant,,ENST00000453157,;	2760	43	34	SUCCESS
MPV17	4358	.	GRCh37	2	27535603	27535603	+	synonymous_variant	Silent	SNP	G	G	T	rs370061168	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	53	0	ENST00000233545.2:c.223C>A	p.Arg75=	p.R75=	ENST00000233545		75	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1748.1	223	MUTECT|MUSE	.	GAACCGATCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11266	.	.	ENSP00000369383	.	4/8	.	.	.	.	.	.	.	.	rs370061168,COSM1019634,COSM1019635	4/8	PASS	ENST00000380044	Transcript	.	.	ENSG00000115204	7224	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	MPV17_HUMAN	MPV17	HGNC	Q9UPC7_HUMAN,D6W556_HUMAN,C9J473_HUMAN	.	UPI000012F4BD	SNV	MPV17,stop_gained,p.Ser63Ter,ENST00000402722,;MPV17,synonymous_variant,p.%3D,ENST00000380044,;MPV17,synonymous_variant,p.%3D,ENST00000357186,;MPV17,synonymous_variant,p.%3D,ENST00000403262,;MPV17,synonymous_variant,p.%3D,ENST00000233545,;MPV17,synonymous_variant,p.%3D,ENST00000402310,;MPV17,synonymous_variant,p.%3D,ENST00000430991,;MPV17,synonymous_variant,p.%3D,ENST00000428910,;MPV17,synonymous_variant,p.%3D,ENST00000405983,;MPV17,intron_variant,,ENST00000405076,;UCN,upstream_gene_variant,,ENST00000296099,;MPV17,upstream_gene_variant,,ENST00000435114,;MPV17,downstream_gene_variant,,ENST00000399052,;MPV17,stop_gained,p.Ser63Ter,ENST00000426513,;MPV17,3_prime_UTR_variant,,ENST00000415514,;MPV17,non_coding_transcript_exon_variant,,ENST00000475085,;MPV17,non_coding_transcript_exon_variant,,ENST00000481575,;MPV17,non_coding_transcript_exon_variant,,ENST00000497981,;MPV17,non_coding_transcript_exon_variant,,ENST00000495429,;MPV17,non_coding_transcript_exon_variant,,ENST00000492879,;MPV17,non_coding_transcript_exon_variant,,ENST00000489478,;MPV17,downstream_gene_variant,,ENST00000486898,;	279	53	35	SUCCESS
HAAO	23498	.	GRCh37	2	43019665	43019665	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	82	0	ENST00000294973.6:c.12C>T	p.Arg4=	p.R4=	ENST00000294973	NM_012205.2	4	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33187.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCGGCG	NONE	.	.	HAMAP:MF_00825,hmmpanther:PTHR15497,Pfam_domain:PF06052,PIRSF_domain:PIRSF017681	.	.	ENSP00000294973	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000294973	Transcript	.	.	ENSG00000162882	4796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	3HAO_HUMAN	HAAO	HGNC	C9IY88_HUMAN	.	UPI000007068E	SNV	HAAO,synonymous_variant,p.%3D,ENST00000294973,;HAAO,5_prime_UTR_variant,,ENST00000431905,;HAAO,non_coding_transcript_exon_variant,,ENST00000402268,;HAAO,non_coding_transcript_exon_variant,,ENST00000406924,;HAAO,non_coding_transcript_exon_variant,,ENST00000402698,;HAAO,non_coding_transcript_exon_variant,,ENST00000404451,;FTOP1,downstream_gene_variant,,ENST00000419363,;	68	82	62	SUCCESS
EPAS1	2034	.	GRCh37	2	46609728	46609728	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	74	0	ENST00000263734.3:c.2452A>G	p.Lys818Glu	p.K818E	ENST00000263734	NM_001430.4	818	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS1825.1	2452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAAGGTG	NONE	.	.	hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF8	.	.	ENSP00000263734	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000263734	Transcript	.	.	ENSG00000116016	3374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	deleterious(0)	.	EPAS1_HUMAN	EPAS1	HGNC	Q53SM6_HUMAN,C9J9N2_HUMAN,B3KW07_HUMAN	.	UPI000013D44F	SNV	EPAS1,missense_variant,p.Lys818Glu,ENST00000263734,;EPAS1,non_coding_transcript_exon_variant,,ENST00000468530,;EPAS1,non_coding_transcript_exon_variant,,ENST00000466465,;EPAS1,downstream_gene_variant,,ENST00000465318,;EPAS1,downstream_gene_variant,,ENST00000483692,;	2962	74	86	SUCCESS
FOXN2	3344	.	GRCh37	2	48602157	48602167	+	frameshift_variant	Frame_Shift_Del	DEL	TCTTTAGCCAC	TCTTTAGCCAC	-	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	TCTTTAGCCAC	TCTTTAGCCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	147	0	ENST00000340553.3:c.871_881del	p.Ser291GlnfsTer3	p.S291Qfs*3	ENST00000340553	NM_002158.3	291	TCTTTAGCCACc/c	0	.	.	.	.	.	-	SLAT/X	protein_coding	YES	CCDS1838.1	871-881	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTGATTCTTTAGCCACCAGCA	NONE	.	.	hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF10	.	.	ENSP00000343633	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000340553	Transcript	.	.	ENSG00000170802	5281	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXN2_HUMAN	FOXN2	HGNC	Q6IS90_HUMAN,C9JTA7_HUMAN	.	UPI0000226321	deletion	FOXN2,frameshift_variant,p.Ser291GlnfsTer3,ENST00000340553,;FOXN2,downstream_gene_variant,,ENST00000413569,;	1132-1142	147	107	SUCCESS
FOXN2	3344	.	GRCh37	2	48602189	48602189	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	139	0	ENST00000340553.3:c.903T>G	p.Asp301Glu	p.D301E	ENST00000340553	NM_002158.3	301	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS1838.1	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATCACAA	NONE	.	.	hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF10	.	.	ENSP00000343633	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000340553	Transcript	.	.	ENSG00000170802	5281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FOXN2_HUMAN	FOXN2	HGNC	Q6IS90_HUMAN,C9JTA7_HUMAN	.	UPI0000226321	SNV	FOXN2,missense_variant,p.Asp301Glu,ENST00000340553,;FOXN2,downstream_gene_variant,,ENST00000413569,;	1164	139	94	SUCCESS
NOTO	344022	.	GRCh37	2	73438052	73438052	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs542458363	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	85	0	ENST00000398468.3:c.751G>A	p.Gly251Ser	p.G251S	ENST00000398468	NM_001134462.1	251	Ggc/Agc	0	.	A:0	.	A:0	.	A	G/S	protein_coding	YES	CCDS46335.1	751	RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGGCTGA	NONE	byFrequency|by1000G	.	.	A:0.002	.	ENSP00000381486	A:0	3/3	.	.	.	.	.	.	.	.	rs542458363	3/3	PASS	ENST00000398468	Transcript	.	A:0.0004	ENSG00000214513	31839	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.862)	A:0	tolerated_low_confidence(0.11)	.	NOTO_HUMAN	NOTO	HGNC	.	.	UPI0000198CC1	SNV	NOTO,missense_variant,p.Gly251Ser,ENST00000398468,;SMYD5,upstream_gene_variant,,ENST00000389501,;SMYD5,upstream_gene_variant,,ENST00000443900,;SMYD5,upstream_gene_variant,,ENST00000474652,;SMYD5,upstream_gene_variant,,ENST00000413491,;SMYD5,upstream_gene_variant,,ENST00000258100,;	1160	85	56	SUCCESS
SEMA5B	54437	.	GRCh37	3	122631890	122631890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	46	0	ENST00000357599.3:c.2525T>C	p.Leu842Pro	p.L842P	ENST00000357599	NM_001256348.1	842	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS58848.1	2687	RADIA|MUTECT|MUSE	.	TGCGCAGGAGG	BUFFER|p.V894D|c.2681T>A|3,BUFFER|p.V839D|c.2516T>A|3,BUFFER|p.V840D|c.2519T>A|3	.	.	hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036	.	.	ENSP00000389588	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.97)	.	deleterious(0.01)	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,missense_variant,p.Leu842Pro,ENST00000357599,;SEMA5B,missense_variant,p.Leu841Pro,ENST00000195173,;SEMA5B,missense_variant,p.Leu896Pro,ENST00000451055,;SEMA5B,missense_variant,p.Leu842Pro,ENST00000393583,;SEMA5B,upstream_gene_variant,,ENST00000451541,;SEMA5B,missense_variant,p.Leu842Pro,ENST00000475244,;	2698	46	29	SUCCESS
PPARG	5468	.	GRCh37	3	12458591	12458591	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	104	0	ENST00000287820.6:c.1208A>T	p.Asn403Ile	p.N403I	ENST00000287820	NM_015869.4	403	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS2609.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAATGCAC	NONE	.	.	hmmpanther:PTHR24082:SF14,hmmpanther:PTHR24082,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR01288	.	.	ENSP00000287820	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000287820	Transcript	.	.	ENSG00000132170	9236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PPARG_HUMAN	PPARG	HGNC	Q9UEF6_HUMAN,Q6L9M1_HUMAN,E9PFJ1_HUMAN,E7EUD1_HUMAN,E7EU07_HUMAN,D2KUA6_HUMAN	.	UPI0000055911	SNV	PPARG,missense_variant,p.Asn403Ile,ENST00000287820,;PPARG,missense_variant,p.Asn381Ile,ENST00000397026,;PPARG,missense_variant,p.Asn375Ile,ENST00000397010,;PPARG,missense_variant,p.Asn375Ile,ENST00000397012,;PPARG,missense_variant,p.Asn375Ile,ENST00000309576,;PPARG,missense_variant,p.Asn375Ile,ENST00000397015,;PPARG,intron_variant,,ENST00000397000,;PPARG,intron_variant,,ENST00000539812,;PPARG,3_prime_UTR_variant,,ENST00000396999,;PPARG,3_prime_UTR_variant,,ENST00000397023,;	1329	104	65	SUCCESS
EPHB1	2047	.	GRCh37	3	134873108	134873108	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	83	0	ENST00000398015.3:c.1412A>G	p.Tyr471Cys	p.Y471C	ENST00000398015	NM_004441.4	471	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46921.1	1412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTACTATG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Pfam_domain:PF00041,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014	.	.	ENSP00000381097	.	6/16	.	.	.	.	.	.	.	.	COSM1205498,COSM1205497	6/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.628)	.	deleterious(0.01)	1,1	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,missense_variant,p.Tyr32Cys,ENST00000493838,;EPHB1,missense_variant,p.Tyr471Cys,ENST00000398015,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488992,;	1782	83	67	SUCCESS
C3orf20	84077	.	GRCh37	3	14768519	14768519	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	3	67	0	ENST00000253697.3:c.1678T>C	p.Leu560=	p.L560=	ENST00000253697	NM_032137.4	560	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33706.1	1678	MUTECT|MUSE	.	CTATCTTGCTG	NONE	.	.	Pfam_domain:PF14977,hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	.	.	ENSP00000253697	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000253697	Transcript	.	.	ENSG00000131379	25320	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC020_HUMAN	C3orf20	HGNC	.	.	UPI000013CDE9	SNV	C3orf20,synonymous_variant,p.%3D,ENST00000435614,;C3orf20,synonymous_variant,p.%3D,ENST00000412910,;C3orf20,synonymous_variant,p.%3D,ENST00000253697,;C3orf20,downstream_gene_variant,,ENST00000495387,;	2130	67	68	SUCCESS
DHX36	170506	.	GRCh37	3	154032979	154032979	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	7	164	0	ENST00000496811.1:c.459A>T	p.Lys153Asn	p.K153N	ENST00000496811	NM_020865.2	153	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS3171.1	459	MUTECT|MUSE	.	AACATTTTTTT	BUFFER|p.M154fs*27|c.460delA|5	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF100	.	.	ENSP00000417078	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000496811	Transcript	.	.	ENSG00000174953	14410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.028)	.	tolerated(0.23)	.	DHX36_HUMAN	DHX36	HGNC	E7EWK3_HUMAN	.	UPI000013ED25	SNV	DHX36,missense_variant,p.Lys67Asn,ENST00000481941,;DHX36,missense_variant,p.Lys153Asn,ENST00000496811,;DHX36,missense_variant,p.Lys153Asn,ENST00000544526,;DHX36,missense_variant,p.Lys153Asn,ENST00000308361,;DHX36,missense_variant,p.Lys153Asn,ENST00000329463,;DHX36,non_coding_transcript_exon_variant,,ENST00000491011,;DHX36,upstream_gene_variant,,ENST00000462464,;	540	164	145	SUCCESS
RFTN1	23180	.	GRCh37	3	16368341	16368341	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	43	0	ENST00000334133.4:c.1189del	p.Leu397TrpfsTer63	p.L397Wfs*63	ENST00000334133	NM_015150.1	397	Ctg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS33712.1	1189	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCCAGCGAGT	NONE	.	.	hmmpanther:PTHR17601:SF3,hmmpanther:PTHR17601,Pfam_domain:PF15250	.	.	ENSP00000334153	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000334133	Transcript	.	.	ENSG00000131378	30278	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RFTN1_HUMAN	RFTN1	HGNC	C9JRN3_HUMAN,C9JWQ9_HUMAN,C9JHG2_HUMAN,B4E1H7_HUMAN	.	UPI00001C1DE7	deletion	RFTN1,frameshift_variant,p.Leu361TrpfsTer63,ENST00000432519,;RFTN1,frameshift_variant,p.Leu397TrpfsTer63,ENST00000334133,;OXNAD1,intron_variant,,ENST00000606098,;OXNAD1,intron_variant,,ENST00000435829,;OXNAD1,intron_variant,,ENST00000544043,;OXNAD1,intron_variant,,ENST00000605932,;RFTN1,non_coding_transcript_exon_variant,,ENST00000483671,;RFTN1,frameshift_variant,p.Leu12TrpfsTer63,ENST00000607320,;	1462	43	36	SUCCESS
SI	6476	.	GRCh37	3	164776811	164776811	+	synonymous_variant	Silent	SNP	C	C	T	rs754134318	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	6	114	0	ENST00000264382.3:c.1338G>A	p.Arg446=	p.R446=	ENST00000264382	NM_001041.3	446	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3196.1	1338	MUTECT|MUSE	.	TTTCCCCTCTC	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	12/48	.	.	.	.	.	.	.	.	rs754134318	12/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,synonymous_variant,p.%3D,ENST00000264382,;	1401	114	114	SUCCESS
RPL35A	6165	.	GRCh37	3	197678059	197678059	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1366033915	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	57	0	ENST00000448864.1:c.41A>G	p.Tyr14Cys	p.Y14C	ENST00000448864		14	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33930.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTATAAGC	NONE	.	.	Superfamily_domains:SSF50447,Pfam_domain:PF01247,hmmpanther:PTHR10902,hmmpanther:PTHR10902:SF0	.	.	ENSP00000419117	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000464167	Transcript	.	.	ENSG00000182899	10345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	deleterious(0.01)	.	RL35A_HUMAN	RPL35A	HGNC	C9K025_HUMAN	.	UPI0000001685	SNV	RPL35A,missense_variant,p.Tyr14Cys,ENST00000442341,;RPL35A,missense_variant,p.Tyr14Cys,ENST00000448864,;RPL35A,missense_variant,p.Tyr14Cys,ENST00000464167,;IQCG,intron_variant,,ENST00000265239,;IQCG,intron_variant,,ENST00000416896,;IQCG,upstream_gene_variant,,ENST00000455191,;IQCG,upstream_gene_variant,,ENST00000452735,;IQCG,upstream_gene_variant,,ENST00000453254,;RPL35A,non_coding_transcript_exon_variant,,ENST00000329092,;IQCG,intron_variant,,ENST00000480302,;IQCG,upstream_gene_variant,,ENST00000463651,;RPL35A,missense_variant,p.Tyr14Cys,ENST00000439255,;RPL35A,missense_variant,p.Tyr14Cys,ENST00000429437,;RPL35A,non_coding_transcript_exon_variant,,ENST00000496582,;RPL35A,non_coding_transcript_exon_variant,,ENST00000485439,;RPL35A,upstream_gene_variant,,ENST00000474640,;	308	57	53	SUCCESS
PXK	54899	.	GRCh37	3	58410540	58410540	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	45	138	0	ENST00000356151.2:c.1590T>G	p.Pro530=	p.P530=	ENST00000356151	NM_017771.3	530	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS2889.1	1590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22999	.	.	ENSP00000348472	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000356151	Transcript	.	.	ENSG00000168297	23326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXK_HUMAN	PXK	HGNC	U3KQS4_HUMAN	.	UPI000004A035	SNV	PXK,missense_variant,p.Cys524Gly,ENST00000479241,;PXK,synonymous_variant,p.%3D,ENST00000536660,;PXK,synonymous_variant,p.%3D,ENST00000356151,;PXK,synonymous_variant,p.%3D,ENST00000383716,;PXK,synonymous_variant,p.%3D,ENST00000479134,;PXK,synonymous_variant,p.%3D,ENST00000302779,;PXK,3_prime_UTR_variant,,ENST00000463280,;PXK,3_prime_UTR_variant,,ENST00000493474,;PDHB,downstream_gene_variant,,ENST00000302746,;PXK,downstream_gene_variant,,ENST00000495557,;PXK,downstream_gene_variant,,ENST00000383715,;PXK,downstream_gene_variant,,ENST00000484288,;PDHB,downstream_gene_variant,,ENST00000474765,;PDHB,downstream_gene_variant,,ENST00000383714,;PDHB,downstream_gene_variant,,ENST00000485460,;RP11-802O23.3,upstream_gene_variant,,ENST00000607214,;PXK,3_prime_UTR_variant,,ENST00000468776,;PXK,3_prime_UTR_variant,,ENST00000477308,;PDHB,downstream_gene_variant,,ENST00000469364,;PDHB,downstream_gene_variant,,ENST00000479945,;PDHB,downstream_gene_variant,,ENST00000461692,;	1699	138	130	SUCCESS
SRGAP3	9901	.	GRCh37	3	9102039	9102039	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	76	0	ENST00000383836.3:c.677A>C	p.Gln226Pro	p.Q226P	ENST00000383836	NM_014850.3	226	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2572.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTGCCTC	NONE	.	.	hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Superfamily_domains:SSF103657	.	.	ENSP00000373347	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000383836	Transcript	.	.	ENSG00000196220	19744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	SRGP3_HUMAN	SRGAP3	HGNC	.	.	UPI0000074099	SNV	SRGAP3,missense_variant,p.Gln226Pro,ENST00000360413,;SRGAP3,missense_variant,p.Gln226Pro,ENST00000383836,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000480750,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000485983,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000470951,;	1105	76	68	SUCCESS
TET2	54790	.	GRCh37	4	106158700	106158700	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	55	157	0	ENST00000380013.4:c.3409+192A>G		p.*1137*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTACATGC	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000413648,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000513237,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,intron_variant,,ENST00000265149,;	.	157	143	SUCCESS
KIAA1109	84162	.	GRCh37	4	123179993	123179993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	76	0	ENST00000264501.4:c.6757A>G	p.Ile2253Val	p.I2253V	ENST00000264501		2253	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43267.1	6757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAATAAAG	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	42/86	.	.	.	.	.	.	.	.	.	42/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.683)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Ile2253Val,ENST00000455637,;KIAA1109,missense_variant,p.Ile826Val,ENST00000446180,;KIAA1109,missense_variant,p.Ile2253Val,ENST00000264501,;KIAA1109,missense_variant,p.Ile2253Val,ENST00000388738,;KIAA1109,missense_variant,p.Ile211Val,ENST00000419325,;	7130	76	64	SUCCESS
ZNF595	152687	.	GRCh37	4	60041	60041	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	5	147	0	ENST00000526473.2:c.221C>A	p.Pro74His	p.P74H	ENST00000526473		74	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	.	221	MUTECT|MUSE	.	CAAACCCCCAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR23232:SF44,hmmpanther:PTHR23232	.	.	ENSP00000437878	.	3/4	.	.	.	.	.	.	.	.	COSM4125369	3/4	PASS	ENST00000526473	Transcript	.	.	ENSG00000197701	27196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.006)	.	tolerated_low_confidence(0.39)	1	.	ZNF595	HGNC	F5H663_HUMAN	.	UPI00020651F4	SNV	ZNF595,missense_variant,p.Pro74His,ENST00000526473,;ZNF595,missense_variant,p.Pro74His,ENST00000509152,;Z95704.1,upstream_gene_variant,,ENST00000384911,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,intron_variant,,ENST00000507368,;ZNF595,intron_variant,,ENST00000512065,;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;	394	147	113	SUCCESS
MCC	4163	.	GRCh37	5	112364595	112364595	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	54	0	ENST00000302475.4:c.2309+36C>T		p.*770*	ENST00000302475	NM_002387.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGAGGGC	NONE	.	.	.	.	.	ENSP00000386227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODIFIER	18/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,intron_variant,,ENST00000302475,;MCC,intron_variant,,ENST00000515367,;MCC,intron_variant,,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	.	54	38	SUCCESS
SAR1B	51128	.	GRCh37	5	133942642	133942642	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	38	109	0	ENST00000402673.2:c.595del	p.Ter199AsnfsTer26	p.*199Nfs*26	ENST00000402673	NM_016103.3	199	Taa/aa	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS4177.1	595	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGTTAATCAA	NONE	.	.	.	.	.	ENSP00000385432	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000402673	Transcript	1	.	ENSG00000152700	10535	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAR1B_HUMAN	SAR1B	HGNC	Q9H029_HUMAN,D6RD69_HUMAN,D6RAA2_HUMAN,D6R9R5_HUMAN	.	UPI0000135569	deletion	SAR1B,frameshift_variant,p.Ter131Asn,ENST00000507419,;SAR1B,frameshift_variant,p.Ter131Asn,ENST00000502539,;SAR1B,frameshift_variant,p.Ter199Asn,ENST00000402673,;SAR1B,frameshift_variant,p.Ter199Asn,ENST00000439578,;SAR1B,frameshift_variant,p.Ter131Asn,ENST00000509937,;SAR1B,downstream_gene_variant,,ENST00000509730,;SAR1B,downstream_gene_variant,,ENST00000502286,;SAR1B,downstream_gene_variant,,ENST00000505758,;SAR1B,non_coding_transcript_exon_variant,,ENST00000508363,;SAR1B,downstream_gene_variant,,ENST00000503318,;	874	109	126	SUCCESS
CDC25C	995	.	GRCh37	5	137665271	137665271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	20	66	0	ENST00000323760.6:c.260T>A	p.Leu87His	p.L87H	ENST00000323760	NM_001790.3	87	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS4202.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTAAGCTGA	NONE	.	.	hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF28	.	.	ENSP00000321656	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000323760	Transcript	.	.	ENSG00000158402	1727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0.02)	.	MPIP3_HUMAN	CDC25C	HGNC	D6RJC2_HUMAN	.	UPI000013E3D2	SNV	CDC25C,missense_variant,p.Leu87His,ENST00000513970,;CDC25C,missense_variant,p.Leu87His,ENST00000356505,;CDC25C,missense_variant,p.Leu87His,ENST00000323760,;CDC25C,missense_variant,p.Leu104His,ENST00000510119,;CDC25C,missense_variant,p.Leu87His,ENST00000514555,;CDC25C,missense_variant,p.Leu87His,ENST00000503022,;CDC25C,intron_variant,,ENST00000357274,;CDC25C,intron_variant,,ENST00000415130,;CDC25C,intron_variant,,ENST00000348983,;FAM53C,upstream_gene_variant,,ENST00000512180,;FAM53C,upstream_gene_variant,,ENST00000511595,;FAM53C,upstream_gene_variant,,ENST00000506710,;CDC25C,upstream_gene_variant,,ENST00000504831,;	539	66	81	SUCCESS
NMUR2	56923	.	GRCh37	5	151784554	151784554	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779692169	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	66	147	0	ENST00000255262.3:c.121C>T	p.Arg41Cys	p.R41C	ENST00000255262	NM_020167.4	41	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4321.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGCCGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Superfamily_domains:SSF81321,Prints_domain:PR01567	.	.	ENSP00000255262	.	1/4	.	.	.	.	.	.	.	.	rs779692169,COSM1319231	1/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.964)	.	deleterious(0)	0,1	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,missense_variant,p.Arg41Cys,ENST00000255262,;NMUR2,intron_variant,,ENST00000518933,;	287	147	150	SUCCESS
RASA1	5921	.	GRCh37	5	86633866	86633866	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	95	369	0	ENST00000274376.6:c.975A>G	p.Thr325=	p.T325=	ENST00000274376	NM_002890.2	325	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS34200.1	975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACAGATGA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10194,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000274376	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,synonymous_variant,p.%3D,ENST00000512763,;RASA1,synonymous_variant,p.%3D,ENST00000456692,;RASA1,synonymous_variant,p.%3D,ENST00000274376,;RASA1,synonymous_variant,p.%3D,ENST00000506290,;RASA1,synonymous_variant,p.%3D,ENST00000515800,;RASA1,non_coding_transcript_exon_variant,,ENST00000509953,;	1539	369	285	SUCCESS
RASA1	5921	.	GRCh37	5	86633867	86633867	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	94	366	0	ENST00000274376.6:c.976G>A	p.Asp326Asn	p.D326N	ENST00000274376	NM_002890.2	326	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS34200.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAGATGAA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10194,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000274376	.	5/25	.	.	.	.	.	.	.	.	COSM1071007,COSM1595677	5/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.015)	.	tolerated(0.48)	1,1	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,missense_variant,p.Asp159Asn,ENST00000512763,;RASA1,missense_variant,p.Asp149Asn,ENST00000456692,;RASA1,missense_variant,p.Asp326Asn,ENST00000274376,;RASA1,missense_variant,p.Asp160Asn,ENST00000506290,;RASA1,missense_variant,p.Asp326Asn,ENST00000515800,;RASA1,non_coding_transcript_exon_variant,,ENST00000509953,;	1540	366	286	SUCCESS
CHD1	1105	.	GRCh37	5	98262046	98262046	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	69	0	ENST00000284049.3:c.45A>C	p.Gly15=	p.G15=	ENST00000284049	NM_001270.2	15	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS34204.1	45	RADIA|MUTECT|MUSE	.	GATTCTCCACT	NONE	.	.	hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,Low_complexity_(Seg):seg	.	.	ENSP00000284049	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,synonymous_variant,p.%3D,ENST00000284049,;CTD-2007H13.3,upstream_gene_variant,,ENST00000513175,;	195	69	52	SUCCESS
CCNC	892	.	GRCh37	6	100016454	100016454	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs766596533	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	39	0	ENST00000520429.1:c.-51C>A		p.*17*	ENST00000520429	NM_005190.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34502.1	.	RADIA|MUSE	.	CCCGCGGAGCG	NONE	byFrequency	.	.	.	.	ENSP00000428982	.	1/12	.	.	.	.	.	.	.	.	rs766596533	1/12	PASS	ENST00000520429	Transcript	.	.	ENSG00000112237	1581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNC_HUMAN	CCNC	HGNC	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN	.	UPI0000169CFB	SNV	CCNC,5_prime_UTR_variant,,ENST00000369220,;CCNC,5_prime_UTR_variant,,ENST00000523985,;CCNC,5_prime_UTR_variant,,ENST00000520371,;CCNC,5_prime_UTR_variant,,ENST00000518714,;CCNC,5_prime_UTR_variant,,ENST00000520429,;CCNC,5_prime_UTR_variant,,ENST00000482541,;CCNC,5_prime_UTR_variant,,ENST00000369217,;CCNC,intron_variant,,ENST00000523799,;CCNC,upstream_gene_variant,,ENST00000524049,;RP1-199J3.7,non_coding_transcript_exon_variant,,ENST00000607332,;CCNC,non_coding_transcript_exon_variant,,ENST00000521017,;CCNC,5_prime_UTR_variant,,ENST00000523961,;CCNC,5_prime_UTR_variant,,ENST00000326298,;CCNC,5_prime_UTR_variant,,ENST00000484049,;CCNC,non_coding_transcript_exon_variant,,ENST00000523541,;CCNC,non_coding_transcript_exon_variant,,ENST00000523639,;	396	39	25	SUCCESS
PPP1R18	170954	.	GRCh37	6	30652197	30652197	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	48	106	0	ENST00000274853.3:c.1599A>T	p.Arg533Ser	p.R533S	ENST00000274853	NM_133471.3	533	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS43444.1	1599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTCTTTC	NONE	.	.	hmmpanther:PTHR21685,Pfam_domain:PF13914	.	.	ENSP00000274853	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000274853	Transcript	.	.	ENSG00000146112	29413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	PPR18_HUMAN	PPP1R18	HGNC	.	.	UPI00001C1E5E	SNV	PPP1R18,missense_variant,p.Arg533Ser,ENST00000399199,;PPP1R18,missense_variant,p.Arg533Ser,ENST00000274853,;NRM,downstream_gene_variant,,ENST00000376420,;NRM,downstream_gene_variant,,ENST00000376421,;NRM,downstream_gene_variant,,ENST00000444096,;NRM,downstream_gene_variant,,ENST00000259953,;PPP1R18,non_coding_transcript_exon_variant,,ENST00000488324,;PPP1R18,intron_variant,,ENST00000467662,;NRM,downstream_gene_variant,,ENST00000462857,;NRM,downstream_gene_variant,,ENST00000482141,;NRM,downstream_gene_variant,,ENST00000474864,;NRM,downstream_gene_variant,,ENST00000470733,;NRM,downstream_gene_variant,,ENST00000495946,;	3476	106	84	SUCCESS
MAP3K7	6885	.	GRCh37	6	91229026	91229026	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751903983	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	98	0	ENST00000369329.3:c.1475C>T	p.Ser492Leu	p.S492L	ENST00000369329	NM_145331.2	492	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS5028.1	1475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGATCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR26392,PIRSF_domain:PIRSF038168	.	.	ENSP00000358335	.	15/17	.	.	.	.	.	.	.	.	rs751903983	15/17	PASS	ENST00000369329	Transcript	.	.	ENSG00000135341	6859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.15)	.	M3K7_HUMAN	MAP3K7	HGNC	.	.	UPI000012EAD6	SNV	MAP3K7,missense_variant,p.Ser492Leu,ENST00000369325,;MAP3K7,missense_variant,p.Ser492Leu,ENST00000369329,;MAP3K7,missense_variant,p.Ser146Leu,ENST00000369320,;MAP3K7,missense_variant,p.Ser465Leu,ENST00000369332,;MAP3K7,missense_variant,p.Ser465Leu,ENST00000369327,;MAP3K7,non_coding_transcript_exon_variant,,ENST00000479630,;	1637	98	83	SUCCESS
ACHE	43	.	GRCh37	7	100491024	100491024	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760504781	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	43	0	ENST00000241069.5:c.830G>T	p.Arg277Leu	p.R277L	ENST00000241069	NM_000665.3	277	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5710.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCGACGG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF171,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000303211	.	2/5	.	.	.	.	.	.	.	.	rs760504781	2/5	PASS	ENST00000302913	Transcript	.	.	ENSG00000087085	108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	tolerated(0.06)	.	ACES_HUMAN	ACHE	HGNC	C9JUK5_HUMAN,C9JD78_HUMAN	.	UPI0000140DF0	SNV	ACHE,missense_variant,p.Arg277Leu,ENST00000241069,;ACHE,missense_variant,p.Arg277Leu,ENST00000419336,;ACHE,missense_variant,p.Arg277Leu,ENST00000428317,;ACHE,missense_variant,p.Arg277Leu,ENST00000426415,;ACHE,missense_variant,p.Arg277Leu,ENST00000411582,;ACHE,missense_variant,p.Arg277Leu,ENST00000430554,;ACHE,missense_variant,p.Arg277Leu,ENST00000412389,;ACHE,missense_variant,p.Arg277Leu,ENST00000302913,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000388793,;SRRT,downstream_gene_variant,,ENST00000457580,;SRRT,downstream_gene_variant,,ENST00000347433,;SRRT,downstream_gene_variant,,ENST00000432932,;UFSP1,upstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,downstream_gene_variant,,ENST00000497647,;ACHE,missense_variant,p.Arg277Leu,ENST00000454485,;ACHE,missense_variant,p.Arg277Leu,ENST00000440755,;ACHE,3_prime_UTR_variant,,ENST00000442452,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000477529,;	969	43	39	SUCCESS
GPR22	2845	.	GRCh37	7	107115755	107115755	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	310	9	371	0	ENST00000304402.4:c.1250A>G	p.Glu417Gly	p.E417G	ENST00000304402	NM_005295.2	417	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS5744.1	1250	MUTECT|MUSE	.	CTTTGAAGATA	NONE	.	.	hmmpanther:PTHR24241:SF1,hmmpanther:PTHR24241	.	.	ENSP00000302676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304402	Transcript	.	.	ENSG00000172209	4477	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	deleterious(0.04)	.	GPR22_HUMAN	GPR22	HGNC	Q59G39_HUMAN,A4D0R8_HUMAN	.	UPI000013E975	SNV	GPR22,missense_variant,p.Glu417Gly,ENST00000304402,;COG5,intron_variant,,ENST00000347053,;COG5,intron_variant,,ENST00000393603,;COG5,intron_variant,,ENST00000297135,;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;	2593	371	319	SUCCESS
KMT2C	58508	.	GRCh37	7	151874011	151874011	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	73	0	ENST00000262189.6:c.8527G>A	p.Asp2843Asn	p.D2843N	ENST00000262189	NM_170606.2	2843	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5931.1	8527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCATTTT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	38/59	.	.	.	.	.	.	.	.	.	38/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Asp2843Asn,ENST00000355193,;KMT2C,missense_variant,p.Asp349Asn,ENST00000360104,;KMT2C,missense_variant,p.Asp2843Asn,ENST00000262189,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	8746	73	68	SUCCESS
DNAH11	8701	.	GRCh37	7	21882173	21882173	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	75	0	ENST00000409508.3:c.10703T>A	p.Ile3568Asn	p.I3568N	ENST00000409508	NM_001277115.1	3568	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	.	10724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGATTGGAG	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000330671	.	67/83	.	.	.	.	.	.	.	.	.	67/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,missense_variant,p.Ile3575Asn,ENST00000328843,;DNAH11,missense_variant,p.Ile3568Asn,ENST00000409508,;	10755	75	81	SUCCESS
EGFR	1956	.	GRCh37	7	55248998	55248999	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGGCCAGCG	rs727504263	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	101	0	ENST00000275493.2:c.2300_2308dup	p.Ala767_Val769dup	p.A767_V769dup	ENST00000275493	NM_005228.3	767	atg/aTGGCCAGCGtg	0	.	.	.	.	.	TGGCCAGCG	M/MASV	protein_coding	YES	CCDS5514.1	2296-2297	INDELOCATOR|VARSCANI	.	ACGTGATGGCC	BUFFER|p.A763_Y764insFQEA|c.2290_2291ins12|6,BUFFER|p.V765M|c.2293G>A|6,BUFFER|p.A767V|c.2300C>T|4,BUFFER|p.S768I|c.2303G>T|37,BUFFER|p.V769L|c.2305G>T|3,BUFFER|p.V769_D770insASV|c.2307_2308insGCCAGCGTG|10	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000275493	.	20/28	.	.	.	.	.	.	.	.	COSM392166	20/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	12	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	insertion	EGFR,inframe_insertion,p.Ala714_Val716dup,ENST00000454757,;EGFR,inframe_insertion,p.Ala767_Val769dup,ENST00000275493,;EGFR,inframe_insertion,p.Ala722_Val724dup,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	2473-2474	101	77	SUCCESS
TRRAP	8295	.	GRCh37	7	98586442	98586442	+	synonymous_variant	Silent	SNP	G	G	T	rs759099104	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	52	0	ENST00000359863.4:c.9456G>T	p.Leu3152=	p.L3152=	ENST00000359863	NM_001244580.1	3152	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS59066.1	9456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGGTGAA	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Gene3D:1.25.40.10,Pfam_domain:PF02259	.	.	ENSP00000352925	.	62/72	.	.	.	.	.	.	.	.	rs759099104	62/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,synonymous_variant,p.%3D,ENST00000355540,;TRRAP,synonymous_variant,p.%3D,ENST00000446306,;TRRAP,synonymous_variant,p.%3D,ENST00000456197,;TRRAP,synonymous_variant,p.%3D,ENST00000359863,;	9665	52	47	SUCCESS
PABPC1	26986	.	GRCh37	8	101721828	101721828	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	148	81	0	ENST00000318607.5:c.1104T>G	p.Ala368=	p.A368=	ENST00000318607	NM_002568.3	368	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6289.1	1104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGAGCTAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF239,hmmpanther:PTHR24011,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Superfamily_domains:SSF54928	.	.	ENSP00000313007	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000318607	Transcript	.	.	ENSG00000070756	8554	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP1_HUMAN	PABPC1	HGNC	H0YB75_HUMAN,E7EQV3_HUMAN,E5RJM8_HUMAN,E5RJB9_HUMAN,E5RHG7_HUMAN,E5RH24_HUMAN,E5RGH3_HUMAN,E5RGC4_HUMAN,E5RFD8_HUMAN	.	UPI0000000BC4	SNV	PABPC1,synonymous_variant,p.%3D,ENST00000522387,;PABPC1,synonymous_variant,p.%3D,ENST00000519004,;PABPC1,synonymous_variant,p.%3D,ENST00000519100,;PABPC1,synonymous_variant,p.%3D,ENST00000318607,;PABPC1,intron_variant,,ENST00000517403,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000523555,;PABPC1,upstream_gene_variant,,ENST00000520868,;PABPC1,upstream_gene_variant,,ENST00000522658,;PABPC1,upstream_gene_variant,,ENST00000517990,;AP001205.1,upstream_gene_variant,,ENST00000579868,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,synonymous_variant,p.%3D,ENST00000523636,;PABPC1,3_prime_UTR_variant,,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000519848,;	2233	81	206	SUCCESS
KLF10	7071	.	GRCh37	8	103663642	103663642	+	synonymous_variant	Silent	SNP	C	C	A	rs774585690	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	82	115	0	ENST00000285407.6:c.918G>T	p.Val306=	p.V306=	ENST00000285407	NM_005655.3	306	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6294.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAACACAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF21	.	.	ENSP00000285407	.	3/4	.	.	.	.	.	.	.	.	rs774585690	3/4	PASS	ENST00000285407	Transcript	.	.	ENSG00000155090	11810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLF10_HUMAN	KLF10	HGNC	.	.	UPI000012DED8	SNV	KLF10,synonymous_variant,p.%3D,ENST00000395884,;KLF10,synonymous_variant,p.%3D,ENST00000285407,;	1219	115	266	SUCCESS
ADAM18	8749	.	GRCh37	8	39535052	39535052	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151131718	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	43	111	0	ENST00000265707.5:c.1628G>A	p.Arg543Gln	p.R543Q	ENST00000265707	NM_014237.2	543	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6113.1	1628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACGGAAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Pfam_domain:PF08516,SMART_domains:SM00608	.	A:0.0002	ENSP00000265707	.	15/20	.	.	.	.	.	.	.	.	rs151131718	15/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.35)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Arg543Gln,ENST00000265707,;ADAM18,missense_variant,p.Arg519Gln,ENST00000379866,;ADAM18,5_prime_UTR_variant,,ENST00000541111,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	1673	112	96	SUCCESS
NUP188	23511	.	GRCh37	9	131749966	131749966	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	4	67	0	ENST00000372577.2:c.2363T>C	p.Ile788Thr	p.I788T	ENST00000372577	NM_015354.2	788	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS35156.1	2363	MUTECT|MUSE	.	CACCATTGACA	NONE	.	.	hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Pfam_domain:PF10487	.	.	ENSP00000361658	.	23/44	.	.	.	.	.	.	.	.	COSM3996357	23/44	PASS	ENST00000372577	Transcript	.	.	ENSG00000095319	17859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.932)	.	deleterious(0)	1	NU188_HUMAN	NUP188	HGNC	.	.	UPI000041A60F	SNV	NUP188,missense_variant,p.Ile788Thr,ENST00000372577,;NUP188,non_coding_transcript_exon_variant,,ENST00000491502,;NUP188,downstream_gene_variant,,ENST00000465344,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;	2384	67	104	SUCCESS
BNC2	54796	.	GRCh37	9	16436154	16436154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	94	0	ENST00000380672.4:c.2038G>A	p.Glu680Lys	p.E680K	ENST00000380672	NM_017637.5	680	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6482.2	2038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCTTGGG	NONE	.	.	hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2	.	.	ENSP00000370047	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000380672	Transcript	.	.	ENSG00000173068	30988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.26)	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,missense_variant,p.Glu585Lys,ENST00000545497,;BNC2,missense_variant,p.Glu613Lys,ENST00000380667,;BNC2,missense_variant,p.Glu680Lys,ENST00000380672,;BNC2,missense_variant,p.Glu680Lys,ENST00000380666,;BNC2,missense_variant,p.Glu73Lys,ENST00000411752,;BNC2,missense_variant,p.Glu637Lys,ENST00000418777,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,missense_variant,p.Glu680Lys,ENST00000484726,;	2096	94	48	SUCCESS
PRUNE2	158471	.	GRCh37	9	79252403	79252403	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	65	0	ENST00000376718.3:c.8894G>A	p.Gly2965Asp	p.G2965D	ENST00000376718	NM_015225.2	2965	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS47982.1	8894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCACCATTC	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF13716,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000365908	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Gly230Asp,ENST00000376717,;PRUNE2,missense_variant,p.Gly230Asp,ENST00000223609,;PRUNE2,missense_variant,p.Gly2290Asp,ENST00000426088,;PRUNE2,missense_variant,p.Gly138Asp,ENST00000424866,;PRUNE2,missense_variant,p.Gly214Asp,ENST00000443509,;PRUNE2,missense_variant,p.Gly2965Asp,ENST00000376718,;PRUNE2,missense_variant,p.Gly2607Asp,ENST00000428286,;PRUNE2,intron_variant,,ENST00000466266,;PRUNE2,downstream_gene_variant,,ENST00000494975,;	9018	65	65	SUCCESS
PRUNE2	158471	.	GRCh37	9	79322011	79322011	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	73	0	ENST00000376718.3:c.5179T>C	p.Leu1727=	p.L1727=	ENST00000376718	NM_015225.2	1727	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS47982.1	5179	MUTECT|MUSE	.	GACCAAGAACT	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,synonymous_variant,p.%3D,ENST00000426088,;PRUNE2,synonymous_variant,p.%3D,ENST00000376718,;PRUNE2,synonymous_variant,p.%3D,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	5303	73	108	SUCCESS
THOC2	57187	.	GRCh37	X	122772802	122772802	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	105	177	0	ENST00000245838.8:c.1823A>C	p.Asn608Thr	p.N608T	ENST00000245838	NM_001081550.1	608	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS43988.1	1823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAATTCAGT	NONE	.	.	hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1,Pfam_domain:PF11732	.	.	ENSP00000245838	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000245838	Transcript	.	.	ENSG00000125676	19073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.08)	.	THOC2_HUMAN	THOC2	HGNC	.	.	UPI00001D7C42	SNV	THOC2,missense_variant,p.Asn608Thr,ENST00000245838,;THOC2,missense_variant,p.Asn493Thr,ENST00000491737,;THOC2,missense_variant,p.Asn608Thr,ENST00000355725,;	1855	177	136	SUCCESS
MXRA5	25878	.	GRCh37	X	3240425	3240425	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766522203	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	78	0	ENST00000217939.6:c.3301G>A	p.Gly1101Ser	p.G1101S	ENST00000217939	NM_015419.3	1101	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS14124.1	3301	MUTECT|MUSE	.	TATACCCAGTG	NONE	byFrequency	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	rs766522203	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.057)	.	tolerated(0.65)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Gly1101Ser,ENST00000217939,;	3456	78	57	SUCCESS
PLEKHA1	59338	.	GRCh37	10	124183766	124183766	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1303067486	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	102	290	0	ENST00000368990.3:c.733G>A	p.Glu245Lys	p.E245K	ENST00000368990	NM_001001974.2	245	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7629.1	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGAATGT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14336,hmmpanther:PTHR14336:SF4,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000357986	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000368990	Transcript	.	.	ENSG00000107679	14335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	PKHA1_HUMAN	PLEKHA1	HGNC	R4GMZ9_HUMAN,B3KQL5_HUMAN	.	UPI000000D9DC	SNV	PLEKHA1,missense_variant,p.Glu245Lys,ENST00000392799,;PLEKHA1,missense_variant,p.Glu245Lys,ENST00000368988,;PLEKHA1,missense_variant,p.Glu245Lys,ENST00000433307,;PLEKHA1,missense_variant,p.Glu245Lys,ENST00000538022,;PLEKHA1,missense_variant,p.Glu245Lys,ENST00000368989,;PLEKHA1,missense_variant,p.Glu245Lys,ENST00000368990,;PLEKHA1,non_coding_transcript_exon_variant,,ENST00000481451,;	864	291	251	SUCCESS
BMI1	648	.	GRCh37	10	22616977	22616977	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	391	27	254	1	ENST00000376663.3:c.415G>C	p.Asp139His	p.D139H	ENST00000376663	NM_005180.8	139	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS7138.1	415	MUTECT|MUSE	.	TCTTTGACCAG	NONE	.	.	hmmpanther:PTHR10825:SF21,hmmpanther:PTHR10825	.	.	ENSP00000365851	.	6/10	.	.	.	.	.	.	.	.	COSM4013334	6/10	PASS	ENST00000376663	Transcript	.	.	ENSG00000168283	1066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.634)	.	tolerated(0.05)	1	BMI1_HUMAN	BMI1	HGNC	Q5T8Z6_HUMAN,Q5T8Z4_HUMAN	.	UPI0000126A1D	SNV	BMI1,missense_variant,p.Asp139His,ENST00000442508,;COMMD3-BMI1,missense_variant,p.Asp282His,ENST00000602390,;BMI1,missense_variant,p.Asp139His,ENST00000376663,;BMI1,intron_variant,,ENST00000443519,;BMI1,downstream_gene_variant,,ENST00000416820,;COMMD3-BMI1,downstream_gene_variant,,ENST00000475460,;COMMD3-BMI1,downstream_gene_variant,,ENST00000489125,;RP11-573G6.9,upstream_gene_variant,,ENST00000606988,;RP11-573G6.8,downstream_gene_variant,,ENST00000607282,;COMMD3-BMI1,downstream_gene_variant,,ENST00000463409,;COMMD3-BMI1,3_prime_UTR_variant,,ENST00000417470,;BMI1,non_coding_transcript_exon_variant,,ENST00000496174,;BMI1,non_coding_transcript_exon_variant,,ENST00000490311,;BMI1,non_coding_transcript_exon_variant,,ENST00000602358,;BMI1,downstream_gene_variant,,ENST00000602524,;BMI1,downstream_gene_variant,,ENST00000602523,;COMMD3-BMI1,downstream_gene_variant,,ENST00000602395,;BMI1,downstream_gene_variant,,ENST00000456675,;	920	255	418	SUCCESS
BMS1	9790	.	GRCh37	10	43312077	43312077	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	15	0	ENST00000374518.5:c.2360A>C	p.Glu787Ala	p.E787A	ENST00000374518	NM_014753.3	787	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS7199.1	2360	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CTTGGAAACAG	NONE	.	.	hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858	.	.	ENSP00000363642	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000374518	Transcript	1	.	ENSG00000165733	23505	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	deleterious(0)	.	BMS1_HUMAN	BMS1	HGNC	.	.	UPI0000126A3E	SNV	BMS1,missense_variant,p.Glu787Ala,ENST00000374518,;	2423	15	15	SUCCESS
WDFY4	57705	.	GRCh37	10	49939214	49939214	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	20	62	0	ENST00000325239.5:c.1189A>T	p.Ser397Cys	p.S397C	ENST00000325239	NM_020945.1	397	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS44385.1	1189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAGTGAC	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000320563	.	8/61	.	.	.	.	.	.	.	.	.	8/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0.02)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Ser397Cys,ENST00000413659,;WDFY4,missense_variant,p.Ser397Cys,ENST00000325239,;WDFY4,missense_variant,p.Ser397Cys,ENST00000360890,;	1216	62	96	SUCCESS
ZWINT	11130	.	GRCh37	10	58119616	58119616	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	50	0	ENST00000373944.3:c.257-2A>T		p.X86_splice	ENST00000373944		86		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7249.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTGAGAT	NONE	.	.	.	.	.	ENSP00000363055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373944	Transcript	.	.	ENSG00000122952	13195	.	.	HIGH	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZWINT_HUMAN	ZWINT	HGNC	A6NH27_HUMAN	.	UPI000013CB09	SNV	ZWINT,splice_acceptor_variant,,ENST00000395405,;ZWINT,splice_acceptor_variant,,ENST00000373944,;ZWINT,splice_acceptor_variant,,ENST00000361148,;ZWINT,upstream_gene_variant,,ENST00000318387,;ZWINT,splice_acceptor_variant,,ENST00000467523,;ZWINT,splice_acceptor_variant,,ENST00000478181,;ZWINT,upstream_gene_variant,,ENST00000460654,;ZWINT,splice_acceptor_variant,,ENST00000489649,;ZWINT,non_coding_transcript_exon_variant,,ENST00000494312,;	.	50	82	SUCCESS
GDI2	2665	.	GRCh37	10	5842576	5842576	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	31	81	0	ENST00000380191.4:c.138A>C	p.Ile46=	p.I46=	ENST00000380191	NM_001494.3	46	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS7071.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTTATAGA	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF1,Pfam_domain:PF00996,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000369538	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000380191	Transcript	.	.	ENSG00000057608	4227	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDIB_HUMAN	GDI2	HGNC	Q6IAT1_HUMAN,B3KVE3_HUMAN	.	UPI000012B39E	SNV	GDI2,synonymous_variant,p.%3D,ENST00000609712,;GDI2,synonymous_variant,p.%3D,ENST00000456041,;GDI2,synonymous_variant,p.%3D,ENST00000380132,;GDI2,synonymous_variant,p.%3D,ENST00000380191,;GDI2,synonymous_variant,p.%3D,ENST00000380181,;GDI2,synonymous_variant,p.%3D,ENST00000380127,;GDI2,synonymous_variant,p.%3D,ENST00000608581,;GDI2,intron_variant,,ENST00000418688,;	429	81	95	SUCCESS
IPMK	253430	.	GRCh37	10	59956280	59956280	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	18	102	0	ENST00000373935.3:c.808G>A	p.Asp270Asn	p.D270N	ENST00000373935	NM_152230.4	270	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS7250.1	808	MUTECT|MUSE|VARSCANS	.	TCTGTCATTCA	NONE	.	.	hmmpanther:PTHR12400:SF39,hmmpanther:PTHR12400,Pfam_domain:PF03770	.	.	ENSP00000363046	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373935	Transcript	.	.	ENSG00000151151	20739	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.063)	.	tolerated(0.26)	.	IPMK_HUMAN	IPMK	HGNC	.	.	UPI000006FB8E	SNV	IPMK,missense_variant,p.Asp270Asn,ENST00000373935,;	1131	102	218	SUCCESS
DDX21	9188	.	GRCh37	10	70719759	70719759	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	289	214	482	1	ENST00000354185.4:c.285G>A	p.Leu95=	p.L95=	ENST00000354185	NM_001256910.1	95	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31211.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTGAGAAA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF197,Superfamily_domains:SSF52540	.	.	ENSP00000346120	.	2/15	.	.	.	.	.	.	.	.	COSM1249883	2/15	PASS	ENST00000354185	Transcript	.	.	ENSG00000165732	2744	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DDX21_HUMAN	DDX21	HGNC	Q8NI92_HUMAN	.	UPI00001A92E8	SNV	DDX21,synonymous_variant,p.%3D,ENST00000354185,;	383	483	503	SUCCESS
ITIH5	80760	.	GRCh37	10	7618817	7618817	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	43	132	0	ENST00000256861.6:c.1577T>A	p.Leu526Gln	p.L526Q	ENST00000256861	NM_030569.6	526	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	.	1577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCAGGTGA	NONE	.	.	hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338	.	.	ENSP00000256861	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Leu526Gln,ENST00000397146,;ITIH5,missense_variant,p.Leu308Gln,ENST00000446830,;ITIH5,missense_variant,p.Leu312Gln,ENST00000298441,;ITIH5,missense_variant,p.Leu526Gln,ENST00000256861,;ITIH5,missense_variant,p.Leu526Gln,ENST00000397145,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,upstream_gene_variant,,ENST00000492668,;ITIH5,non_coding_transcript_exon_variant,,ENST00000468389,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,downstream_gene_variant,,ENST00000461751,;	1656	132	180	SUCCESS
TTC12	54970	.	GRCh37	11	113209515	113209515	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	55	115	0	ENST00000529221.1:c.596A>T	p.Lys199Met	p.K199M	ENST00000529221	NM_017868.3	199	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS8360.2	596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGAAGATCT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF319,Pfam_domain:PF07719,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000433757	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000529221	Transcript	.	.	ENSG00000149292	23700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TTC12_HUMAN	TTC12	HGNC	E9PIS6_HUMAN,C9JYU1_HUMAN,C9JPY5_HUMAN,C9J1D2_HUMAN,A8K8G6_HUMAN	.	UPI000013F914	SNV	TTC12,missense_variant,p.Lys199Met,ENST00000314756,;TTC12,missense_variant,p.Lys179Met,ENST00000529850,;TTC12,missense_variant,p.Lys199Met,ENST00000529221,;TTC12,missense_variant,p.Lys199Met,ENST00000393020,;TTC12,missense_variant,p.Lys25Met,ENST00000524580,;TTC12,missense_variant,p.Lys155Met,ENST00000525965,;TTC12,missense_variant,p.Lys199Met,ENST00000442859,;TTC12,missense_variant,p.Lys205Met,ENST00000483239,;TTC12,downstream_gene_variant,,ENST00000531164,;TTC12,upstream_gene_variant,,ENST00000478125,;TTC12,missense_variant,p.Lys64Met,ENST00000527362,;TTC12,missense_variant,p.Lys199Met,ENST00000494714,;TTC12,3_prime_UTR_variant,,ENST00000464224,;TTC12,non_coding_transcript_exon_variant,,ENST00000534793,;TTC12,non_coding_transcript_exon_variant,,ENST00000525989,;	701	115	127	SUCCESS
VWA5A	4013	.	GRCh37	11	124013257	124013257	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	88	0	ENST00000392748.1:c.2132T>C	p.Ile711Thr	p.I711T	ENST00000392748	NM_014622.4	711	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS8444.1	2132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATAATGG	NONE	.	.	hmmpanther:PTHR10338:SF100,hmmpanther:PTHR10338	.	.	ENSP00000407726	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000456829	Transcript	.	.	ENSG00000110002	6658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.08)	.	VMA5A_HUMAN	VWA5A	HGNC	.	.	UPI0000158B80	SNV	VWA5A,missense_variant,p.Ile711Thr,ENST00000456829,;VWA5A,missense_variant,p.Ile711Thr,ENST00000392748,;VWA5A,3_prime_UTR_variant,,ENST00000360334,;	2383	88	94	SUCCESS
ANO3	63982	.	GRCh37	11	26559010	26559010	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	24	113	0	ENST00000256737.3:c.1032+2T>A		p.X344_splice	ENST00000256737	NM_031418.2	344		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31447.1	.	RADIA|MUTECT|MUSE	.	TGAGGTAATTT	NONE	.	.	.	.	.	ENSP00000256737	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256737	Transcript	.	.	ENSG00000134343	14004	.	.	HIGH	10/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANO3_HUMAN	ANO3	HGNC	E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN	.	UPI00001F9ED8	SNV	ANO3,splice_donor_variant,,ENST00000531568,;ANO3,splice_donor_variant,,ENST00000525139,;ANO3,splice_donor_variant,,ENST00000256737,;ANO3,splice_donor_variant,,ENST00000537978,;ANO3,upstream_gene_variant,,ENST00000529242,;	.	113	135	SUCCESS
NLRP6	171389	.	GRCh37	11	279503	279503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	92	0	ENST00000312165.5:c.206C>A	p.Ala69Asp	p.A69D	ENST00000312165	NM_001276700.1	69	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS7693.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGCCCAGT	NONE	.	.	Superfamily_domains:SSF47986,Gene3D:1.10.533.10,Pfam_domain:PF02758,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3,PROSITE_profiles:PS50824	.	.	ENSP00000309767	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000312165	Transcript	.	.	ENSG00000174885	22944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	deleterious(0.01)	.	NALP6_HUMAN	NLRP6	HGNC	.	.	UPI00001AEFE1	SNV	NLRP6,missense_variant,p.Ala69Asp,ENST00000534750,;NLRP6,missense_variant,p.Ala69Asp,ENST00000312165,;NLRP6,non_coding_transcript_exon_variant,,ENST00000527946,;	206	92	84	SUCCESS
ANO9	338440	.	GRCh37	11	431745	431745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs181550038	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	40	0	ENST00000332826.6:c.488C>T	p.Thr163Met	p.T163M	ENST00000332826	NM_001012302.2	163	aCg/aTg	0	.	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS31326.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGTCTTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12308:SF27,hmmpanther:PTHR12308	A:0.001	.	ENSP00000332788	A:0	7/23	.	.	.	.	.	.	.	.	rs181550038,COSM4032747	7/23	PASS	ENST00000332826	Transcript	.	A:0.0002	ENSG00000185101	20679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.386)	A:0	deleterious(0.01)	0,1	ANO9_HUMAN	ANO9	HGNC	.	.	UPI00001D782B	SNV	ANO9,missense_variant,p.Thr163Met,ENST00000332826,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,upstream_gene_variant,,ENST00000525857,;ANO9,upstream_gene_variant,,ENST00000526142,;ANO9,upstream_gene_variant,,ENST00000534161,;	573	40	43	SUCCESS
OR51G1	79324	.	GRCh37	11	4945292	4945292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	27	124	0	ENST00000321961.2:c.278A>G	p.Glu93Gly	p.E93G	ENST00000321961	NM_001005237.1	93	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS31366.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCTCTCTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.02)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Glu93Gly,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	346	124	159	SUCCESS
OR8I2	120586	.	GRCh37	11	55861433	55861433	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	78	0	ENST00000302124.2:c.650A>G	p.Tyr217Cys	p.Y217C	ENST00000302124	NM_001003750.1	217	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31517.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTATATCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000303864	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302124	Transcript	.	.	ENSG00000172154	15310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR8I2_HUMAN	OR8I2	HGNC	H0YLY8_HUMAN	.	UPI0000041D16	SNV	OR8I2,missense_variant,p.Tyr217Cys,ENST00000302124,;OR8I4P,downstream_gene_variant,,ENST00000526965,;	681	78	66	SUCCESS
ATG16L2	89849	.	GRCh37	11	72525573	72525573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	118	0	ENST00000321297.5:c.83C>A	p.Thr28Lys	p.T28K	ENST00000321297	NM_033388.1	28	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31634.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTACGCAAA	NONE	.	.	hmmpanther:PTHR19878:SF2,hmmpanther:PTHR19878,Pfam_domain:PF08614	.	.	ENSP00000326340	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000321297	Transcript	.	.	ENSG00000168010	25464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.1)	.	A16L2_HUMAN	ATG16L2	HGNC	F5H7B6_HUMAN	.	UPI0000140B06	SNV	ATG16L2,missense_variant,p.Thr28Lys,ENST00000534905,;ATG16L2,missense_variant,p.Thr28Lys,ENST00000321297,;ATG16L2,missense_variant,p.Thr33Lys,ENST00000540567,;ATG16L2,upstream_gene_variant,,ENST00000538842,;ATG16L2,upstream_gene_variant,,ENST00000451353,;ATG16L2,missense_variant,p.Thr28Lys,ENST00000435507,;ATG16L2,missense_variant,p.Thr28Lys,ENST00000544490,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000537143,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000542908,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000439504,;	221	118	127	SUCCESS
FAM168A	23201	.	GRCh37	11	73141779	73141779	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771043751	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	17	70	0	ENST00000064778.4:c.107A>T	p.Tyr36Phe	p.Y36F	ENST00000064778	NM_001286050.1	36	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS41689.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGTAGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31844:SF1,hmmpanther:PTHR31844,Pfam_domain:PF14944	.	.	ENSP00000348852	.	3/8	.	.	.	.	.	.	.	.	rs771043751	3/8	PASS	ENST00000356467	Transcript	.	.	ENSG00000054965	28999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.02)	.	F168A_HUMAN	FAM168A	HGNC	.	.	UPI00000EB9DB	SNV	FAM168A,missense_variant,p.Tyr36Phe,ENST00000450446,;FAM168A,missense_variant,p.Tyr36Phe,ENST00000356467,;FAM168A,missense_variant,p.Tyr36Phe,ENST00000064778,;FAM168A,non_coding_transcript_exon_variant,,ENST00000432223,;	386	70	105	SUCCESS
GDPD5	81544	.	GRCh37	11	75188814	75188814	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	112	0	ENST00000336898.3:c.-34C>T		p.*12*	ENST00000336898	NM_030792.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8238.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGGCGCC	NONE	.	.	.	.	.	ENSP00000337972	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000336898	Transcript	.	.	ENSG00000158555	28804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDPD5_HUMAN	GDPD5	HGNC	E9PJU5_HUMAN	.	UPI000013FB97	SNV	GDPD5,5_prime_UTR_variant,,ENST00000443276,;GDPD5,5_prime_UTR_variant,,ENST00000336898,;GDPD5,5_prime_UTR_variant,,ENST00000376282,;GDPD5,5_prime_UTR_variant,,ENST00000532435,;GDPD5,5_prime_UTR_variant,,ENST00000529721,;GDPD5,5_prime_UTR_variant,,ENST00000533784,;GDPD5,5_prime_UTR_variant,,ENST00000527820,;GDPD5,non_coding_transcript_exon_variant,,ENST00000528031,;	805	112	87	SUCCESS
TENM4	26011	.	GRCh37	11	78369171	78369171	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	87	0	ENST00000278550.7:c.8242T>A	p.Tyr2748Asn	p.Y2748N	ENST00000278550	NM_001098816.2	2748	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS44688.1	8242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTACTGCT	NONE	.	.	Pfam_domain:PF15636,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Tyr2748Asn,ENST00000278550,;TENM4,intron_variant,,ENST00000530738,;	8705	87	81	SUCCESS
TENM4	26011	.	GRCh37	11	78387204	78387204	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs925239438	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	43	0	ENST00000278550.7:c.5489G>A	p.Arg1830Gln	p.R1830Q	ENST00000278550	NM_001098816.2	1830	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS44688.1	5489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCGGCGC	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	deleterious(0.01)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Arg1830Gln,ENST00000278550,;TENM4,missense_variant,p.Arg294Gln,ENST00000530738,;	5952	43	50	SUCCESS
TMEM135	65084	.	GRCh37	11	86802424	86802424	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs777254060	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	88	0	ENST00000305494.5:c.383A>T	p.Tyr128Phe	p.Y128F	ENST00000305494	NM_022918.3	128	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS8280.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTATATGG	NONE	.	.	hmmpanther:PTHR12459:SF4,hmmpanther:PTHR12459	.	.	ENSP00000306344	.	4/15	.	.	.	.	.	.	.	.	rs777254060	4/15	PASS	ENST00000305494	Transcript	.	.	ENSG00000166575	26167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TM135_HUMAN	TMEM135	HGNC	Q7Z760_HUMAN,F5H254_HUMAN,B4DKZ1_HUMAN	.	UPI00001FB0C7	SNV	TMEM135,missense_variant,p.Tyr128Phe,ENST00000305494,;TMEM135,missense_variant,p.Tyr128Phe,ENST00000525018,;TMEM135,missense_variant,p.Tyr128Phe,ENST00000355734,;TMEM135,missense_variant,p.Tyr97Phe,ENST00000526733,;TMEM135,missense_variant,p.Tyr128Phe,ENST00000340353,;TMEM135,intron_variant,,ENST00000532959,;TMEM135,intron_variant,,ENST00000535167,;TMEM135,non_coding_transcript_exon_variant,,ENST00000531800,;TMEM135,non_coding_transcript_exon_variant,,ENST00000529023,;RP11-648O15.1,downstream_gene_variant,,ENST00000527404,;	422	88	121	SUCCESS
ANO4	121601	.	GRCh37	12	101480526	101480526	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	37	137	0	ENST00000392977.3:c.1625T>C	p.Ile542Thr	p.I542T	ENST00000392977	NM_001286615.1	542	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS31884.1	1520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAATCAGGA	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547	.	.	ENSP00000376705	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	tolerated(0.2)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Ile62Thr,ENST00000550015,;ANO4,missense_variant,p.Ile62Thr,ENST00000299222,;ANO4,missense_variant,p.Ile542Thr,ENST00000392977,;ANO4,missense_variant,p.Ile507Thr,ENST00000392979,;ANO4,non_coding_transcript_exon_variant,,ENST00000548940,;	1881	137	148	SUCCESS
ETV6	2120	.	GRCh37	12	12006418	12006418	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	32	89	0	ENST00000396373.4:c.391del	p.Ser131HisfsTer78	p.S131Hfs*78	ENST00000396373	NM_001987.4	129	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS8643.1	386	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATTCTTTTTT	NONE	.	.	hmmpanther:PTHR11849:SF19,hmmpanther:PTHR11849	.	.	ENSP00000379658	.	4/8	.	.	.	.	.	.	.	.	COSM4039283	4/8	PASS	ENST00000396373	Transcript	.	.	ENSG00000139083	3495	5	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ETV6_HUMAN	ETV6	HGNC	Q9UME7_HUMAN	.	UPI000000DA45	deletion	ETV6,frameshift_variant,p.Ser131HisfsTer78,ENST00000396373,;	660	89	160	SUCCESS
IPO8	10526	.	GRCh37	12	30837345	30837345	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	46	103	0	ENST00000256079.4:c.213A>T	p.Arg71=	p.R71=	ENST00000256079	NM_006390.3	71	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8719.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTCGATC	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00913,Pfam_domain:PF03810,Gene3D:1.25.10.10,hmmpanther:PTHR10997:SF26,hmmpanther:PTHR10997,PROSITE_profiles:PS50166	.	.	ENSP00000256079	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000256079	Transcript	.	.	ENSG00000133704	9853	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO8_HUMAN	IPO8	HGNC	F5H009_HUMAN,F5GXT5_HUMAN	.	UPI000013CEE9	SNV	IPO8,synonymous_variant,p.%3D,ENST00000256079,;IPO8,synonymous_variant,p.%3D,ENST00000358724,;IPO8,synonymous_variant,p.%3D,ENST00000535989,;IPO8,synonymous_variant,p.%3D,ENST00000543446,;IPO8,downstream_gene_variant,,ENST00000545077,;IPO8,downstream_gene_variant,,ENST00000538338,;IPO8,3_prime_UTR_variant,,ENST00000540979,;	552	103	150	SUCCESS
CNTN1	1272	.	GRCh37	12	41410583	41410583	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs566695601	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	62	124	0	ENST00000347616.1:c.2284C>T	p.Pro762Ser	p.P762S	ENST00000347616		762	Cct/Tct	0	.	T:0.0008	.	T:0	.	T	P/S	protein_coding	YES	CCDS8737.1	2284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATCCTGAT	NONE	by1000G	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50853	T:0	.	ENSP00000447006	T:0	19/24	.	.	.	.	.	.	.	.	rs566695601,COSM279991	19/24	PASS	ENST00000551295	Transcript	.	T:0.0002	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.829)	T:0	tolerated(0.2)	0,1	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Pro762Ser,ENST00000551295,;CNTN1,missense_variant,p.Pro762Ser,ENST00000347616,;CNTN1,missense_variant,p.Pro751Ser,ENST00000348761,;CNTN1,non_coding_transcript_exon_variant,,ENST00000550305,;	2401	124	193	SUCCESS
TMEM117	84216	.	GRCh37	12	44782177	44782177	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140040983	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	40	92	0	ENST00000266534.3:c.1267C>T	p.Arg423Cys	p.R423C	ENST00000266534	NM_032256.1	423	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS8745.1	1267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACGCATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31226	.	T:0.0005	ENSP00000266534	.	8/8	.	.	.	.	.	.	.	.	rs140040983	8/8	PASS	ENST00000266534	Transcript	.	.	ENSG00000139173	25308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated_low_confidence(0.12)	.	TM117_HUMAN	TMEM117	HGNC	H0YI63_HUMAN	.	UPI0000037D18	SNV	TMEM117,missense_variant,p.Arg423Cys,ENST00000266534,;TMEM117,missense_variant,p.Arg319Cys,ENST00000536799,;TMEM117,3_prime_UTR_variant,,ENST00000551577,;TMEM117,downstream_gene_variant,,ENST00000550495,;TMEM117,non_coding_transcript_exon_variant,,ENST00000546978,;TMEM117,3_prime_UTR_variant,,ENST00000546868,;	1394	92	131	SUCCESS
KRT74	121391	.	GRCh37	12	52962149	52962149	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751637978	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	11	78	0	ENST00000305620.2:c.1159G>A	p.Ala387Thr	p.A387T	ENST00000305620	NM_175053.3	387	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8832.1	1159	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCGATGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF94,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000307240	.	7/9	.	.	.	.	.	.	.	.	rs751637978	7/9	PASS	ENST00000305620	Transcript	.	.	ENSG00000170484	28929	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.202)	.	tolerated(0.11)	.	K2C74_HUMAN	KRT74	HGNC	.	.	UPI00001AEDF9	SNV	KRT74,missense_variant,p.Ala387Thr,ENST00000305620,;KRT74,missense_variant,p.Ala401Thr,ENST00000549343,;KRT74,non_coding_transcript_exon_variant,,ENST00000546384,;	1207	78	103	SUCCESS
KRT3	3850	.	GRCh37	12	53189455	53189455	+	synonymous_variant	Silent	SNP	G	G	A	rs1382093860	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	43	106	0	ENST00000417996.2:c.372C>T	p.Gly124=	p.G124=	ENST00000417996	NM_057088.2	124	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS44895.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAGCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF140,hmmpanther:PTHR23239	.	.	ENSP00000413479	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000417996	Transcript	.	.	ENSG00000186442	6440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C3_HUMAN	KRT3	HGNC	.	.	UPI000013EEC8	SNV	KRT3,synonymous_variant,p.%3D,ENST00000309505,;KRT3,synonymous_variant,p.%3D,ENST00000417996,;	447	106	139	SUCCESS
HOXC12	3228	.	GRCh37	12	54348808	54348808	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	80	179	0	ENST00000243103.3:c.95C>A	p.Ser32Tyr	p.S32Y	ENST00000243103	NM_173860.1	32	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS8866.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGTCCGGGG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF164	.	.	ENSP00000243103	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000243103	Transcript	.	.	ENSG00000123407	5124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	HXC12_HUMAN	HOXC12	HGNC	.	.	UPI000012CF7E	SNV	HOXC12,missense_variant,p.Ser32Tyr,ENST00000243103,;AC012531.23,upstream_gene_variant,,ENST00000603432,;	191	179	279	SUCCESS
ITGA5	3678	.	GRCh37	12	54797997	54797997	+	synonymous_variant	Silent	SNP	G	G	A	rs567536197	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	97	0	ENST00000293379.4:c.1497C>T	p.Leu499=	p.L499=	ENST00000293379	NM_002205.2	499	ctC/ctT	0	.	T:0	.	T:0	.	A	L	protein_coding	YES	CCDS8880.1	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGAGGGA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF3,Gene3D:1jv2A02,Pfam_domain:PF08441,SMART_domains:SM00191,Superfamily_domains:SSF69179,Prints_domain:PR01185	T:0.002	.	ENSP00000293379	T:0	15/30	.	.	.	.	.	.	.	.	rs567536197	15/30	PASS	ENST00000293379	Transcript	.	T:0.0004	ENSG00000161638	6141	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ITA5_HUMAN	ITGA5	HGNC	.	.	UPI000012D9F3	SNV	ITGA5,synonymous_variant,p.%3D,ENST00000293379,;ITGA5,upstream_gene_variant,,ENST00000547197,;RP11-753H16.5,intron_variant,,ENST00000552785,;RP11-753H16.3,intron_variant,,ENST00000550474,;ITGA5,non_coding_transcript_exon_variant,,ENST00000552564,;ITGA5,non_coding_transcript_exon_variant,,ENST00000550141,;ITGA5,non_coding_transcript_exon_variant,,ENST00000551861,;ITGA5,upstream_gene_variant,,ENST00000552431,;ITGA5,upstream_gene_variant,,ENST00000552387,;ITGA5,upstream_gene_variant,,ENST00000551564,;ITGA5,downstream_gene_variant,,ENST00000435631,;ITGA5,upstream_gene_variant,,ENST00000552583,;ITGA5,downstream_gene_variant,,ENST00000553071,;	1759	97	128	SUCCESS
WIF1	11197	.	GRCh37	12	65460513	65460513	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	48	124	0	ENST00000286574.4:c.638T>C	p.Leu213Pro	p.L213P	ENST00000286574	NM_007191.4	213	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8971.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAAGGGCT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,SMART_domains:SM00181	.	.	ENSP00000286574	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000286574	Transcript	.	.	ENSG00000156076	18081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	WIF1_HUMAN	WIF1	HGNC	F5H8A3_HUMAN,B4DX53_HUMAN	.	UPI0000038BEE	SNV	WIF1,missense_variant,p.Leu213Pro,ENST00000286574,;WIF1,upstream_gene_variant,,ENST00000543094,;WIF1,downstream_gene_variant,,ENST00000546001,;	1013	124	158	SUCCESS
MLF2	8079	.	GRCh37	12	6857973	6857973	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	25	179	1	ENST00000203630.5:c.735C>A	p.Arg245=	p.R245=	ENST00000203630		245	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8559.1	735	RADIA|MUTECT|MUSE	.	TCATAGCGGCG	NONE	.	.	hmmpanther:PTHR13105,hmmpanther:PTHR13105:SF4	.	.	ENSP00000203630	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000203630	Transcript	.	.	ENSG00000089693	7126	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MLF2_HUMAN	MLF2	HGNC	Q5U0N1_HUMAN,F5H800_HUMAN,F5H7L5_HUMAN	.	UPI000012F1FA	SNV	MLF2,synonymous_variant,p.%3D,ENST00000542154,;MLF2,synonymous_variant,p.%3D,ENST00000203630,;MLF2,synonymous_variant,p.%3D,ENST00000539187,;MLF2,synonymous_variant,p.%3D,ENST00000435120,;MLF2,downstream_gene_variant,,ENST00000536207,;MLF2,downstream_gene_variant,,ENST00000540710,;MLF2,downstream_gene_variant,,ENST00000537126,;MLF2,downstream_gene_variant,,ENST00000564181,;MLF2,non_coding_transcript_exon_variant,,ENST00000541305,;MLF2,downstream_gene_variant,,ENST00000541346,;MLF2,downstream_gene_variant,,ENST00000536249,;	1380	181	247	SUCCESS
RP11-81H3.2	0	.	GRCh37	12	74686283	74686283	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	15	0	ENST00000515416.2:n.120C>T		p.*40*	ENST00000515416				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCGTCAGC	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000515416	Transcript	.	.	ENSG00000251138	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-81H3.2	Clone_based_vega_gene	.	.	.	SNV	RP11-81H3.2,non_coding_transcript_exon_variant,,ENST00000548427,;RP11-81H3.2,non_coding_transcript_exon_variant,,ENST00000549905,;RP11-81H3.2,non_coding_transcript_exon_variant,,ENST00000515416,;RP11-81H3.2,non_coding_transcript_exon_variant,,ENST00000551210,;RP11-81H3.2,intron_variant,,ENST00000551726,;RP11-81H3.1,non_coding_transcript_exon_variant,,ENST00000546480,;	120	15	29	SUCCESS
KCNC2	3747	.	GRCh37	12	75601469	75601469	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	76	218	0	ENST00000549446.1:c.295G>T	p.Gly99Cys	p.G99C	ENST00000549446	NM_001260497.1	99	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9007.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCGCCAC	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	.	.	ENSP00000449253	.	2/5	.	.	.	.	.	.	.	.	COSM3356356,COSM3356355,COSM3356354	2/5	PASS	ENST00000549446	Transcript	.	.	ENSG00000166006	6234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.801)	.	deleterious(0.02)	1,1,1	KCNC2_HUMAN	KCNC2	HGNC	.	.	UPI000004DB9B	SNV	KCNC2,missense_variant,p.Gly99Cys,ENST00000341669,;KCNC2,missense_variant,p.Gly99Cys,ENST00000393288,;KCNC2,missense_variant,p.Gly99Cys,ENST00000540018,;KCNC2,missense_variant,p.Gly99Cys,ENST00000548513,;KCNC2,missense_variant,p.Gly99Cys,ENST00000550433,;KCNC2,missense_variant,p.Gly99Cys,ENST00000298972,;KCNC2,missense_variant,p.Gly99Cys,ENST00000549446,;KCNC2,missense_variant,p.Gly99Cys,ENST00000350228,;	976	218	285	SUCCESS
PTPRQ	374462	.	GRCh37	12	80982127	80982127	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	45	120	0	ENST00000266688.5:c.4493A>G	p.Tyr1498Cys	p.Y1498C	ENST00000266688		1498	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	4493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATATGGAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	31/50	.	.	.	.	.	.	.	.	.	31/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	tolerated(0.08)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Tyr1498Cys,ENST00000266688,;RP11-272K23.3,intron_variant,,ENST00000550634,;	4493	120	141	SUCCESS
MTUS2	23281	.	GRCh37	13	30066851	30066851	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	83	0	ENST00000431530.3:c.3604T>A	p.Leu1202Met	p.L1202M	ENST00000431530	NM_001033602.2	1202	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS45022.1	3604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCATTGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	.	.	ENSP00000392057	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000431530	Transcript	.	.	ENSG00000132938	20595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	MTUS2	HGNC	J3KQA9_HUMAN,B4DWQ4_HUMAN	.	UPI0000F734AC	SNV	MTUS2,missense_variant,p.Leu171Met,ENST00000380808,;MTUS2,missense_variant,p.Leu81Met,ENST00000542829,;MTUS2,missense_variant,p.Leu1202Met,ENST00000431530,;MTUS2-AS1,upstream_gene_variant,,ENST00000323380,;MTUS2,upstream_gene_variant,,ENST00000400542,;MTUS2,upstream_gene_variant,,ENST00000467990,;	3662	83	110	SUCCESS
USPL1	10208	.	GRCh37	13	31205172	31205172	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	13	108	0	ENST00000255304.4:c.429A>G	p.Gly143=	p.G143=	ENST00000255304	NM_005800.4	143	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS9336.1	429	MUTECT|MUSE|VARSCANS	.	AATGGAGAAGT	NONE	.	.	hmmpanther:PTHR15294	.	.	ENSP00000255304	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000255304	Transcript	.	.	ENSG00000132952	20294	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	USPL1_HUMAN	USPL1	HGNC	.	.	UPI000013CEA3	SNV	USPL1,synonymous_variant,p.%3D,ENST00000255304,;USPL1,non_coding_transcript_exon_variant,,ENST00000465952,;	771	108	134	SUCCESS
SCEL	8796	.	GRCh37	13	78163340	78163340	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	80	0	ENST00000349847.3:c.607C>A	p.Gln203Lys	p.Q203K	ENST00000349847	NM_144777.2	203	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS9459.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACCAGCTG	NONE	.	.	hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468	.	.	ENSP00000302579	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000349847	Transcript	.	.	ENSG00000136155	10573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	tolerated(0.08)	.	SCEL_HUMAN	SCEL	HGNC	.	.	UPI000013CFF1	SNV	SCEL,missense_variant,p.Gln203Lys,ENST00000377246,;SCEL,missense_variant,p.Gln203Lys,ENST00000349847,;SCEL,missense_variant,p.Gln181Lys,ENST00000535157,;SCEL,missense_variant,p.Gln180Lys,ENST00000471491,;	691	80	104	SUCCESS
EDNRB	1910	.	GRCh37	13	78472337	78472337	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	40	0	ENST00000334286.5:c.1327T>G	p.Ter443GlyextTer18	p.*443Gext*18	ENST00000334286	NM_001122659.2	443	Tga/Gga	0	.	.	.	.	.	C	*/G	protein_coding	YES	CCDS55902.1	1597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAAGATG	NONE	.	.	.	.	.	ENSP00000366416	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,stop_lost,p.Ter533GlyextTer18,ENST00000377211,;EDNRB,stop_lost,p.Ter443GlyextTer18,ENST00000334286,;EDNRB,intron_variant,,ENST00000446573,;	1750	40	73	SUCCESS
TDRD9	122402	.	GRCh37	14	104436890	104436890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	104	0	ENST00000409874.4:c.778A>G	p.Thr260Ala	p.T260A	ENST00000409874	NM_153046.2	260	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS9987.2	778	RADIA|MUTECT|MUSE	.	AACGAACAGAA	BUFFER|p.E258K|c.772G>A|3	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80,PROSITE_profiles:PS51192	.	.	ENSP00000387303	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000409874	Transcript	.	.	ENSG00000156414	20122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.899)	.	deleterious(0.03)	.	TDRD9_HUMAN	TDRD9	HGNC	.	.	UPI0001642306	SNV	TDRD9,missense_variant,p.Thr260Ala,ENST00000339063,;TDRD9,missense_variant,p.Thr260Ala,ENST00000409874,;TDRD9,upstream_gene_variant,,ENST00000557332,;TDRD9,downstream_gene_variant,,ENST00000554571,;	826	104	113	SUCCESS
C14orf119	55017	.	GRCh37	14	23567275	23567275	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	69	0	ENST00000319074.4:c.408A>G	p.Thr136=	p.T136=	ENST00000319074	NM_017924.3	136	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9588.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACAGCTGG	NONE	.	.	hmmpanther:PTHR16260	.	.	ENSP00000322238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319074	Transcript	.	.	ENSG00000179933	20270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN119_HUMAN	C14orf119	HGNC	.	.	UPI000006E710	SNV	C14orf119,synonymous_variant,p.%3D,ENST00000554203,;C14orf119,synonymous_variant,p.%3D,ENST00000319074,;ACIN1,upstream_gene_variant,,ENST00000605057,;ACIN1,upstream_gene_variant,,ENST00000262710,;ACIN1,upstream_gene_variant,,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000457657,;	1264	69	67	SUCCESS
HECTD1	25831	.	GRCh37	14	31604292	31604292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	117	0	ENST00000399332.1:c.3364A>G	p.Asn1122Asp	p.N1122D	ENST00000399332	NM_015382.2	1122	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS41939.1	3364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATTATCAC	NONE	.	.	Superfamily_domains:SSF49785,Pfam_domain:PF07738,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	.	.	ENSP00000382269	.	22/43	.	.	.	.	.	.	.	.	.	22/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious(0.05)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Asn596Asp,ENST00000553957,;HECTD1,missense_variant,p.Asn1122Asp,ENST00000399332,;HECTD1,missense_variant,p.Asn1122Asp,ENST00000553700,;HECTD1,upstream_gene_variant,,ENST00000557369,;HECTD1,downstream_gene_variant,,ENST00000554850,;	3853	117	91	SUCCESS
FAM179B	0	.	GRCh37	14	45465007	45465007	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	101	0	ENST00000361577.3:c.2105T>G	p.Val702Gly	p.V702G	ENST00000361577	NM_015091.2	702	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS9681.1	2105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTCAATG	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.16)	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,missense_variant,p.Val702Gly,ENST00000361577,;FAM179B,missense_variant,p.Val702Gly,ENST00000382233,;FAM179B,missense_variant,p.Val702Gly,ENST00000361462,;FAM179B,missense_variant,p.Val21Gly,ENST00000555874,;KLHL28,intron_variant,,ENST00000556239,;FAM179B,upstream_gene_variant,,ENST00000557250,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,missense_variant,p.Val702Gly,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;	2319	101	87	SUCCESS
NIN	51199	.	GRCh37	14	51290024	51290024	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	113	0	ENST00000382041.3:c.-21-1229A>T		p.*7*	ENST00000382041	NM_016350.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGCAAC	NONE	.	.	.	.	.	ENSP00000371472	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODIFIER	2/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,intron_variant,,ENST00000389868,;NIN,intron_variant,,ENST00000245441,;NIN,intron_variant,,ENST00000324330,;NIN,intron_variant,,ENST00000382041,;NIN,intron_variant,,ENST00000496749,;NIN,intron_variant,,ENST00000382043,;NIN,intron_variant,,ENST00000453196,;NIN,intron_variant,,ENST00000453401,;NIN,upstream_gene_variant,,ENST00000486950,;NIN,upstream_gene_variant,,ENST00000530997,;RP11-286O18.1,non_coding_transcript_exon_variant,,ENST00000555966,;NIN,intron_variant,,ENST00000476352,;NIN,intron_variant,,ENST00000463419,;	.	113	115	SUCCESS
BMP4	652	.	GRCh37	14	54416923	54416923	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	35	176	0	ENST00000245451.4:c.1054A>T	p.Thr352Ser	p.T352S	ENST00000245451	NM_001202.3	352	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9715.1	1054	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTTGAGT	NONE	.	.	Superfamily_domains:SSF57501,SMART_domains:SM00204,Gene3D:2.10.90.10,Pfam_domain:PF00019,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF49,PROSITE_profiles:PS51362	.	.	ENSP00000245451	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000245451	Transcript	.	.	ENSG00000125378	1071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0.04)	.	BMP4_HUMAN	BMP4	HGNC	U3MVU6_HUMAN,Q53XC5_HUMAN,H0YM53_HUMAN,H0YLW3_HUMAN	.	UPI000000CC31	SNV	BMP4,missense_variant,p.Thr352Ser,ENST00000558984,;BMP4,missense_variant,p.Thr352Ser,ENST00000417573,;BMP4,missense_variant,p.Thr352Ser,ENST00000559087,;BMP4,missense_variant,p.Thr352Ser,ENST00000245451,;BMP4,downstream_gene_variant,,ENST00000559501,;BMP4,downstream_gene_variant,,ENST00000609748,;BMP4,downstream_gene_variant,,ENST00000558961,;BMP4,downstream_gene_variant,,ENST00000559642,;MIR5580,upstream_gene_variant,,ENST00000580850,;	1448	176	195	SUCCESS
KCNH5	27133	.	GRCh37	14	63246579	63246579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	136	0	ENST00000322893.7:c.1886A>G	p.Asn629Ser	p.N629S	ENST00000322893	NM_139318.4	629	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9756.1	1886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGTTCGCA	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,Pfam_domain:PF00027,hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217,PROSITE_profiles:PS50042	.	.	ENSP00000321427	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	tolerated(0.13)	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,missense_variant,p.Asn571Ser,ENST00000394968,;KCNH5,missense_variant,p.Asn629Ser,ENST00000322893,;KCNH5,intron_variant,,ENST00000420622,;	2155	136	109	SUCCESS
RP11-973N13.4	0	.	GRCh37	14	64998591	64998591	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	84	0	ENST00000554918.1:n.148+601C>T		p.*50*	ENST00000554918				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGGCCTTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000554918	Transcript	.	.	ENSG00000259116	.	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-973N13.4	Clone_based_vega_gene	.	.	.	SNV	ZBTB1,synonymous_variant,p.%3D,ENST00000358738,;HSPA2,upstream_gene_variant,,ENST00000394709,;RP11-973N13.4,intron_variant,,ENST00000554918,;RP11-973N13.5,downstream_gene_variant,,ENST00000555669,;	.	84	93	SUCCESS
EML5	161436	.	GRCh37	14	89258735	89258735	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	88	0	ENST00000380664.5:c.113A>T	p.Tyr38Phe	p.Y38F	ENST00000380664		38	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS45148.1	113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGTATACG	NONE	.	.	Superfamily_domains:SSF50978,Pfam_domain:PF03451	.	.	ENSP00000451998	.	1/44	.	.	.	.	.	.	.	.	.	1/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	tolerated(0.08)	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Tyr38Phe,ENST00000352093,;EML5,missense_variant,p.Tyr38Phe,ENST00000554922,;EML5,missense_variant,p.Tyr38Phe,ENST00000380664,;	362	88	56	SUCCESS
HERC2P3	283755	.	GRCh37	15	20662957	20662957	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	535	54	440	0	ENST00000428453.1:n.1239T>C		p.*413*	ENST00000428453				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUSE|VARSCANS	.	ACTAAAGATAA	NONE	.	.	.	.	.	.	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,downstream_gene_variant,,ENST00000412154,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,downstream_gene_variant,,ENST00000414804,;HERC2P3,upstream_gene_variant,,ENST00000426501,;HERC2P3,upstream_gene_variant,,ENST00000440441,;HERC2P3,upstream_gene_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000429926,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1239	440	589	SUCCESS
DISP2	85455	.	GRCh37	15	40660665	40660665	+	synonymous_variant	Silent	SNP	C	C	A	rs778094098	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	83	0	ENST00000267889.3:c.2352C>A	p.Gly784=	p.G784=	ENST00000267889	NM_033510.1	784	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10056.1	2352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCGACCC	NONE	.	.	hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	rs778094098,COSM554899	8/8	PASS	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,synonymous_variant,p.%3D,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	2439	83	106	SUCCESS
MAP1A	4130	.	GRCh37	15	43819399	43819399	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764432579	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	34	164	0	ENST00000300231.5:c.5728C>T	p.Arg1910Cys	p.R1910C	ENST00000300231		1910	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS42031.1	5728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACCGCAAG	NONE	byFrequency	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	rs764432579	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,missense_variant,p.Arg1910Cys,ENST00000399453,;MAP1A,missense_variant,p.Arg1910Cys,ENST00000300231,;MAP1A,missense_variant,p.Arg2148Cys,ENST00000382031,;	6178	164	201	SUCCESS
USP8	9101	.	GRCh37	15	50751310	50751310	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	390	121	357	0	ENST00000307179.4:c.449C>T	p.Ala150Val	p.A150V	ENST00000307179		150	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10137.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGCTAAAG	NONE	.	.	hmmpanther:PTHR24006:SF350,hmmpanther:PTHR24006	.	.	ENSP00000405537	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000433963	Transcript	1	.	ENSG00000138592	12631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.05)	.	UBP8_HUMAN	USP8	HGNC	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN	.	UPI0000030306	SNV	USP8,missense_variant,p.Ala150Val,ENST00000396444,;USP8,missense_variant,p.Ala150Val,ENST00000433963,;USP8,missense_variant,p.Ala73Val,ENST00000425032,;USP8,missense_variant,p.Ala150Val,ENST00000307179,;USP8,downstream_gene_variant,,ENST00000558091,;RNA5SP395,upstream_gene_variant,,ENST00000516567,;USP8,non_coding_transcript_exon_variant,,ENST00000560885,;USP8,non_coding_transcript_exon_variant,,ENST00000560954,;USP8,non_coding_transcript_exon_variant,,ENST00000560527,;USP8,missense_variant,p.Ala150Val,ENST00000559329,;USP8,3_prime_UTR_variant,,ENST00000561211,;USP8,3_prime_UTR_variant,,ENST00000559242,;USP8,intron_variant,,ENST00000560730,;USP8,intron_variant,,ENST00000561330,;	949	357	511	SUCCESS
TRPM7	54822	.	GRCh37	15	50885907	50885907	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	66	0	ENST00000313478.7:c.3515A>G	p.Asp1172Gly	p.D1172G	ENST00000313478	NM_017672.4	1172	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS42035.1	3515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATCATGA	NONE	.	.	hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	25/39	.	.	.	.	.	.	.	.	.	25/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	deleterious(0.01)	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,missense_variant,p.Asp1172Gly,ENST00000560955,;TRPM7,missense_variant,p.Asp1172Gly,ENST00000313478,;TRPM7,non_coding_transcript_exon_variant,,ENST00000560284,;	3797	66	95	SUCCESS
BBS4	585	.	GRCh37	15	73020331	73020332	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	68	0	ENST00000268057.4:c.639dup	p.Gln214ThrfsTer10	p.Q214Tfs*10	ENST00000268057	NM_033028.4	213	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS10246.1	638-639	INDELOCATOR*|VARSCANI*|PINDEL	.	CTACTTACAGG	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF389,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,Low_complexity_(Seg):seg	.	.	ENSP00000268057	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000268057	Transcript	1	.	ENSG00000140463	969	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BBS4_HUMAN	BBS4	HGNC	.	.	UPI000013D78E	insertion	BBS4,frameshift_variant,p.Gln211ThrfsTer17,ENST00000569338,;BBS4,frameshift_variant,p.Gln214ThrfsTer10,ENST00000268057,;BBS4,frameshift_variant,p.Gln222ThrfsTer10,ENST00000395205,;BBS4,frameshift_variant,p.Gln42ThrfsTer10,ENST00000542334,;BBS4,frameshift_variant,p.Gln202ThrfsTer10,ENST00000539603,;BBS4,upstream_gene_variant,,ENST00000566197,;BBS4,3_prime_UTR_variant,,ENST00000562084,;BBS4,3_prime_UTR_variant,,ENST00000567279,;BBS4,3_prime_UTR_variant,,ENST00000566400,;BBS4,3_prime_UTR_variant,,ENST00000561914,;BBS4,3_prime_UTR_variant,,ENST00000565160,;BBS4,intron_variant,,ENST00000562219,;BBS4,downstream_gene_variant,,ENST00000569440,;BBS4,upstream_gene_variant,,ENST00000569151,;BBS4,downstream_gene_variant,,ENST00000566938,;	679-680	68	100	SUCCESS
UBE2Q2	92912	.	GRCh37	15	76183289	76183289	+	synonymous_variant	Silent	SNP	G	G	C	rs142780659	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	40	97	0	ENST00000267938.4:c.963G>C	p.Ser321=	p.S321=	ENST00000267938	NM_173469.2	321	tcG/tcC	0	A:0.0002	.	.	.	.	C	S	protein_coding	YES	CCDS10286.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCGGTCAT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF35,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	A:0.0003	ENSP00000267938	.	11/13	.	.	.	.	.	.	.	.	rs142780659,COSM965077	11/13	PASS	ENST00000267938	Transcript	.	.	ENSG00000140367	19248	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	UB2Q2_HUMAN	UBE2Q2	HGNC	B4DFQ2_HUMAN	.	UPI0000073AF9	SNV	UBE2Q2,synonymous_variant,p.%3D,ENST00000561851,;UBE2Q2,synonymous_variant,p.%3D,ENST00000569423,;UBE2Q2,synonymous_variant,p.%3D,ENST00000267938,;UBE2Q2,intron_variant,,ENST00000426727,;UBE2Q2,intron_variant,,ENST00000338677,;RN7SL510P,upstream_gene_variant,,ENST00000581311,;UBE2Q2,non_coding_transcript_exon_variant,,ENST00000563966,;UBE2Q2,intron_variant,,ENST00000567921,;UBE2Q2,intron_variant,,ENST00000561723,;	1345	97	141	SUCCESS
WDR61	80349	.	GRCh37	15	78582307	78582307	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	15	115	0	ENST00000267973.2:c.454C>G	p.Leu152Val	p.L152V	ENST00000267973		152	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS10300.1	454	MUTECT|MUSE|VARSCANS	.	ACTAAGAATGA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22841,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000267973	.	6/11	.	.	.	.	.	.	.	.	COSM965350	6/11	PASS	ENST00000267973	Transcript	.	.	ENSG00000140395	30300	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.515)	.	deleterious(0.01)	1	WDR61_HUMAN	WDR61	HGNC	H0YN81_HUMAN,H0YM76_HUMAN	.	UPI00000714F4	SNV	WDR61,missense_variant,p.Leu152Val,ENST00000560569,;WDR61,missense_variant,p.Leu59Val,ENST00000558459,;WDR61,missense_variant,p.Leu152Val,ENST00000267973,;WDR61,missense_variant,p.Leu152Val,ENST00000558311,;WDR61,missense_variant,p.Leu23Val,ENST00000560807,;WDR61,upstream_gene_variant,,ENST00000558453,;RP11-762H8.1,upstream_gene_variant,,ENST00000560057,;WDR61,downstream_gene_variant,,ENST00000558840,;WDR61,upstream_gene_variant,,ENST00000559332,;WDR61,missense_variant,p.Leu152Val,ENST00000559848,;WDR61,3_prime_UTR_variant,,ENST00000560610,;WDR61,downstream_gene_variant,,ENST00000559700,;WDR61,upstream_gene_variant,,ENST00000559940,;WDR61,downstream_gene_variant,,ENST00000561347,;WDR61,downstream_gene_variant,,ENST00000560063,;WDR61,upstream_gene_variant,,ENST00000558412,;WDR61,downstream_gene_variant,,ENST00000560946,;RP11-762H8.2,downstream_gene_variant,,ENST00000560331,;	726	115	149	SUCCESS
NME3	4832	.	GRCh37	16	1821508	1821508	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779333710	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	50	0	ENST00000219302.3:c.28G>A	p.Ala10Thr	p.A10T	ENST00000219302	NM_002513.2	10	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10443.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGCGAAGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF54	.	.	ENSP00000219302	.	1/5	.	.	.	.	.	.	.	.	rs779333710	1/5	PASS	ENST00000219302	Transcript	.	.	ENSG00000103024	7851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0.02)	.	NDK3_HUMAN	NME3	HGNC	Q9NUF9_HUMAN,H3BPR2_HUMAN	.	UPI000012FE88	SNV	NME3,missense_variant,p.Ala10Thr,ENST00000219302,;NME3,5_prime_UTR_variant,,ENST00000563498,;MRPS34,downstream_gene_variant,,ENST00000397375,;MAPK8IP3,downstream_gene_variant,,ENST00000356010,;MAPK8IP3,downstream_gene_variant,,ENST00000250894,;MRPS34,downstream_gene_variant,,ENST00000177742,;EME2,upstream_gene_variant,,ENST00000307394,;EME2,upstream_gene_variant,,ENST00000568449,;NME3,upstream_gene_variant,,ENST00000564628,;NME3,missense_variant,p.Ala3Thr,ENST00000563854,;NME3,missense_variant,p.Ala2Thr,ENST00000568561,;NME3,non_coding_transcript_exon_variant,,ENST00000565379,;NME3,non_coding_transcript_exon_variant,,ENST00000566600,;NME3,non_coding_transcript_exon_variant,,ENST00000561637,;NME3,non_coding_transcript_exon_variant,,ENST00000563367,;MAPK8IP3,downstream_gene_variant,,ENST00000567352,;MAPK8IP3,downstream_gene_variant,,ENST00000566064,;EME2,upstream_gene_variant,,ENST00000565326,;NME3,upstream_gene_variant,,ENST00000564252,;NME3,upstream_gene_variant,,ENST00000567271,;EME2,upstream_gene_variant,,ENST00000561903,;EME2,upstream_gene_variant,,ENST00000570069,;EME2,upstream_gene_variant,,ENST00000561564,;MRPS34,downstream_gene_variant,,ENST00000569585,;MAPK8IP3,downstream_gene_variant,,ENST00000563868,;MAPK8IP3,downstream_gene_variant,,ENST00000562042,;EME2,upstream_gene_variant,,ENST00000564182,;MAPK8IP3,downstream_gene_variant,,ENST00000564868,;	224	50	79	SUCCESS
TMC5	79838	.	GRCh37	16	19468024	19468024	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	42	84	0	ENST00000396229.2:c.1049-3533A>C		p.*350*	ENST00000396229	NM_001105248.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45431.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGGAGA	NONE	.	.	.	.	.	ENSP00000379531	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396229	Transcript	.	.	ENSG00000103534	22999	.	.	MODIFIER	5/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC5_HUMAN	TMC5	HGNC	.	.	UPI00001FEF87	SNV	TMC5,5_prime_UTR_variant,,ENST00000219821,;TMC5,5_prime_UTR_variant,,ENST00000561503,;TMC5,5_prime_UTR_variant,,ENST00000564959,;TMC5,intron_variant,,ENST00000381414,;TMC5,intron_variant,,ENST00000541464,;TMC5,intron_variant,,ENST00000396229,;TMC5,intron_variant,,ENST00000542583,;TMC5,non_coding_transcript_exon_variant,,ENST00000567478,;	.	84	100	SUCCESS
NUTF2	10204	.	GRCh37	16	67902495	67902495	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	59	0	ENST00000219169.4:c.263A>T	p.Gln88Leu	p.Q88L	ENST00000219169	NM_005796.1	88	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10848.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCAGCTTA	NONE	.	.	PROSITE_profiles:PS50177,hmmpanther:PTHR12612,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000219169	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000219169	Transcript	.	.	ENSG00000102898	13722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	NTF2_HUMAN	NUTF2	HGNC	H3BRV9_HUMAN	.	UPI0000003F6C	SNV	NUTF2,missense_variant,p.Gln88Leu,ENST00000567105,;NUTF2,missense_variant,p.Gln88Leu,ENST00000219169,;NUTF2,missense_variant,p.Gln88Leu,ENST00000568396,;NUTF2,missense_variant,p.Gln88Leu,ENST00000569436,;EDC4,upstream_gene_variant,,ENST00000358933,;NUTF2,non_coding_transcript_exon_variant,,ENST00000568390,;NUTF2,non_coding_transcript_exon_variant,,ENST00000568233,;EDC4,upstream_gene_variant,,ENST00000536072,;NUTF2,upstream_gene_variant,,ENST00000587481,;EDC4,upstream_gene_variant,,ENST00000572221,;NUTF2,downstream_gene_variant,,ENST00000570026,;	546	59	66	SUCCESS
DNAH9	1770	.	GRCh37	17	11701056	11701056	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs145239685	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	125	0	ENST00000262442.4:c.8366A>T	p.Asn2789Ile	p.N2789I	ENST00000262442	NM_001372.3	2789	aAt/aTt	0	G:0.0002	.	.	.	.	T	N/I	protein_coding	YES	CCDS11160.1	8366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAATGAAG	NONE	byCluster	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12780	.	G:0	ENSP00000262442	.	43/69	.	.	.	.	.	.	.	.	rs145239685	43/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Asn2789Ile,ENST00000454412,;DNAH9,missense_variant,p.Asn2789Ile,ENST00000262442,;	8434	125	103	SUCCESS
GIT1	28964	.	GRCh37	17	27909015	27909015	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	37	0	ENST00000225394.3:c.553C>A	p.Leu185Met	p.L185M	ENST00000225394	NM_014030.3	185	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS42290.1	553	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGCTCGG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23180:SF193,hmmpanther:PTHR23180,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000378338	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000394869	Transcript	.	.	ENSG00000108262	4272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	GIT1_HUMAN	GIT1	HGNC	Q59FC3_HUMAN,K7EIX6_HUMAN,B4DS81_HUMAN,B4DMF7_HUMAN	.	UPI0000E59EEC	SNV	GIT1,missense_variant,p.Leu185Met,ENST00000225394,;GIT1,missense_variant,p.Leu185Met,ENST00000394869,;GIT1,missense_variant,p.Leu185Met,ENST00000581348,;GIT1,missense_variant,p.Leu185Met,ENST00000579937,;GIT1,downstream_gene_variant,,ENST00000577466,;GIT1,downstream_gene_variant,,ENST00000583413,;GIT1,downstream_gene_variant,,ENST00000335356,;GIT1,upstream_gene_variant,,ENST00000585148,;RP11-68I3.2,intron_variant,,ENST00000581474,;GIT1,non_coding_transcript_exon_variant,,ENST00000579536,;GIT1,upstream_gene_variant,,ENST00000581925,;GIT1,upstream_gene_variant,,ENST00000586574,;GIT1,upstream_gene_variant,,ENST00000473217,;	724	37	51	SUCCESS
CPD	1362	.	GRCh37	17	28778776	28778776	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	128	0	ENST00000225719.4:c.3117T>C	p.Asp1039=	p.D1039=	ENST00000225719	NM_001304.4	1039	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS11257.1	3117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGATGGGCG	NONE	.	.	hmmpanther:PTHR11532:SF40,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000225719	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000225719	Transcript	.	.	ENSG00000108582	2301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPD_HUMAN	CPD	HGNC	.	.	UPI000000DAF7	SNV	CPD,synonymous_variant,p.%3D,ENST00000225719,;CPD,synonymous_variant,p.%3D,ENST00000543464,;CPD,intron_variant,,ENST00000584221,;CPD,non_coding_transcript_exon_variant,,ENST00000584051,;CPD,downstream_gene_variant,,ENST00000588977,;CPD,missense_variant,p.Met27Thr,ENST00000584050,;CPD,upstream_gene_variant,,ENST00000579502,;CPD,upstream_gene_variant,,ENST00000580396,;	3193	128	128	SUCCESS
RHOT1	55288	.	GRCh37	17	30538176	30538176	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	6	82	0	ENST00000333942.6:c.1739+2848C>G		p.*580*	ENST00000333942	NM_018307.3	626		0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS32610.1	1877	MUTECT|MUSE|VARSCANS	.	GTGTACATTTT	NONE	.	.	.	.	.	ENSP00000351132	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000358365	Transcript	.	.	ENSG00000126858	21168	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	MIRO1_HUMAN	RHOT1	HGNC	.	.	UPI0000074394	SNV	RHOT1,missense_variant,p.Thr117Arg,ENST00000581148,;RHOT1,missense_variant,p.Thr17Arg,ENST00000584852,;RHOT1,missense_variant,p.Thr594Arg,ENST00000545287,;RHOT1,missense_variant,p.Thr626Arg,ENST00000358365,;RHOT1,missense_variant,p.Thr178Arg,ENST00000582602,;RHOT1,intron_variant,,ENST00000583994,;RHOT1,intron_variant,,ENST00000394692,;RHOT1,intron_variant,,ENST00000354266,;RHOT1,intron_variant,,ENST00000580392,;RHOT1,intron_variant,,ENST00000333942,;RHOT1,downstream_gene_variant,,ENST00000581094,;RHOT1,intron_variant,,ENST00000582586,;RHOT1,missense_variant,p.Thr594Arg,ENST00000581031,;RHOT1,intron_variant,,ENST00000578205,;RHOT1,intron_variant,,ENST00000584692,;RHOT1,downstream_gene_variant,,ENST00000581567,;	2104	82	76	SUCCESS
C17orf102	400591	.	GRCh37	17	32905904	32905904	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	63	0	ENST00000357754.1:c.396A>T	p.Thr132=	p.T132=	ENST00000357754	NM_207454.2	132	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42297.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACTGTCCC	NONE	.	.	.	.	.	ENSP00000350392	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000357754	Transcript	.	.	ENSG00000197322	34412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ102_HUMAN	C17orf102	HGNC	.	.	UPI0000456A77	SNV	C17orf102,synonymous_variant,p.%3D,ENST00000357754,;TMEM132E,upstream_gene_variant,,ENST00000321639,;	485	63	74	SUCCESS
KRTAP3-3	85293	.	GRCh37	17	39150197	39150197	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs762265051	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	15	226	0	ENST00000391586.1:c.153T>A	p.Cys51Ter	p.C51*	ENST00000391586	NM_033185.2	51	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS32643.1	153	MUTECT|MUSE	.	GGGGGACAGTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23260,Pfam_domain:PF04579	.	.	ENSP00000375428	.	1/1	.	.	.	.	.	.	.	.	rs762265051	1/1	PASS	ENST00000391586	Transcript	.	.	ENSG00000212899	18890	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRA33_HUMAN	KRTAP3-3	HGNC	.	.	UPI00000706E5	SNV	KRTAP3-3,stop_gained,p.Cys51Ter,ENST00000391586,;	189	226	224	SUCCESS
DHX8	1659	.	GRCh37	17	41590838	41590838	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	66	141	0	ENST00000262415.3:c.2611A>T	p.Ile871Phe	p.I871F	ENST00000262415	NM_004941.1	871	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11464.1	2611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGATTGAC	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934:SF85,hmmpanther:PTHR18934,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000262415	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000262415	Transcript	.	.	ENSG00000067596	2749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.374)	.	deleterious(0)	.	DHX8_HUMAN	DHX8	HGNC	.	.	UPI00001290D9	SNV	DHX8,missense_variant,p.Ile871Phe,ENST00000540306,;DHX8,missense_variant,p.Ile871Phe,ENST00000262415,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;	2683	141	148	SUCCESS
CACNA1G	8913	.	GRCh37	17	48655580	48655580	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	118	0	ENST00000359106.5:c.1956C>T	p.Ser652=	p.S652=	ENST00000359106	NM_018896.4	652	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45730.1	1956	MUTECT|MUSE|VARSCANS	.	TCCAGCCCTTG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137	.	.	ENSP00000352011	.	9/38	.	.	.	.	.	.	.	.	.	9/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000416767,;CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000514181,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,synonymous_variant,p.%3D,ENST00000504076,;CACNA1G,synonymous_variant,p.%3D,ENST00000511765,;CACNA1G,synonymous_variant,p.%3D,ENST00000511768,;CACNA1G,synonymous_variant,p.%3D,ENST00000503436,;CACNA1G,synonymous_variant,p.%3D,ENST00000503607,;CACNA1G,synonymous_variant,p.%3D,ENST00000506406,;	1956	118	111	SUCCESS
KCNH6	81033	.	GRCh37	17	61623190	61623190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	70	0	ENST00000583023.1:c.2912G>A	p.Gly971Asp	p.G971D	ENST00000583023	NM_030779.3	971	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS11638.1	2912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGCTCTG	NONE	.	.	.	.	.	ENSP00000463533	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.54)	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,missense_variant,p.Gly971Asp,ENST00000583023,;KCNH6,missense_variant,p.Gly882Asp,ENST00000456941,;KCNH6,missense_variant,p.Gly882Asp,ENST00000581784,;KCNH6,missense_variant,p.Gly935Asp,ENST00000314672,;DCAF7,upstream_gene_variant,,ENST00000310827,;DCAF7,upstream_gene_variant,,ENST00000431926,;DCAF7,upstream_gene_variant,,ENST00000415273,;DCAF7,upstream_gene_variant,,ENST00000582274,;DCAF7,upstream_gene_variant,,ENST00000582103,;DCAF7,upstream_gene_variant,,ENST00000585252,;DCAF7,upstream_gene_variant,,ENST00000577702,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	2923	70	64	SUCCESS
DDX42	11325	.	GRCh37	17	61895571	61895571	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	59	0	ENST00000389924.2:c.2630C>T	p.Ala877Val	p.A877V	ENST00000389924	NM_203499.2	877	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32704.1	2630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGCAAATG	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF125	.	.	ENSP00000464050	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000578681	Transcript	.	.	ENSG00000198231	18676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.38)	.	DDX42_HUMAN	DDX42	HGNC	J3QRI2_HUMAN,B3KMI4_HUMAN	.	UPI000017DA3D	SNV	DDX42,missense_variant,p.Ala877Val,ENST00000389924,;DDX42,missense_variant,p.Ala877Val,ENST00000578681,;DDX42,missense_variant,p.Ala877Val,ENST00000583590,;DDX42,missense_variant,p.Ala758Val,ENST00000359353,;DDX42,missense_variant,p.Ala877Val,ENST00000457800,;FTSJ3,downstream_gene_variant,,ENST00000427159,;DDX42,intron_variant,,ENST00000582985,;DDX42,non_coding_transcript_exon_variant,,ENST00000578593,;DDX42,non_coding_transcript_exon_variant,,ENST00000584010,;DDX42,non_coding_transcript_exon_variant,,ENST00000581767,;DDX42,downstream_gene_variant,,ENST00000584951,;FTSJ3,downstream_gene_variant,,ENST00000583202,;DDX42,downstream_gene_variant,,ENST00000579539,;DDX42,downstream_gene_variant,,ENST00000577940,;FTSJ3,downstream_gene_variant,,ENST00000579831,;FTSJ3,downstream_gene_variant,,ENST00000583901,;	3231	59	71	SUCCESS
CD79B	974	.	GRCh37	17	62007563	62007563	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	69	0	ENST00000392795.3:c.304A>T	p.Asn102Tyr	p.N102Y	ENST00000392795	NM_001039933.1	102	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS42372.1	304	MUTECT|MUSE|VARSCANS	.	TTCGTTCTGGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR14334,hmmpanther:PTHR14334:SF2,PROSITE_profiles:PS50835	.	.	ENSP00000376544	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000392795	Transcript	.	.	ENSG00000007312	1699	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	CD79B_HUMAN	CD79B	HGNC	.	.	UPI00001B2490	SNV	CD79B,missense_variant,p.Asn101Tyr,ENST00000006750,;CD79B,missense_variant,p.Asn102Tyr,ENST00000392795,;CD79B,intron_variant,,ENST00000349817,;CD79B,non_coding_transcript_exon_variant,,ENST00000559358,;CD79B,downstream_gene_variant,,ENST00000583260,;CD79B,downstream_gene_variant,,ENST00000558969,;	379	69	78	SUCCESS
SMURF2	64750	.	GRCh37	17	62553767	62553767	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	290	32	352	0	ENST00000262435.9:c.1390A>G	p.Ile464Val	p.I464V	ENST00000262435	NM_022739.3	464	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32707.1	1390	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATATCAT	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF300,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000262435	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000262435	Transcript	.	.	ENSG00000108854	16809	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.45)	.	SMUF2_HUMAN	SMURF2	HGNC	Q96DE7_HUMAN	.	UPI00001361C5	SNV	SMURF2,missense_variant,p.Ile451Val,ENST00000585301,;SMURF2,missense_variant,p.Ile464Val,ENST00000262435,;SMURF2,downstream_gene_variant,,ENST00000578200,;SMURF2,3_prime_UTR_variant,,ENST00000578386,;SMURF2,3_prime_UTR_variant,,ENST00000582081,;SMURF2,non_coding_transcript_exon_variant,,ENST00000580072,;	1578	352	322	SUCCESS
SEC14L1	6397	.	GRCh37	17	75139670	75139670	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs199574629	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	79	0	ENST00000430767.4:c.-9A>T		p.*3*	ENST00000430767	NM_001204410.1			0	G:0	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS42385.1	.	MUTECT|MUSE|VARSCANS	.	GTTGTATTGCA	NONE	byCluster|by1000G	.	.	G:0	G:0.0001	ENSP00000376268	G:0	5/20	.	.	.	.	.	.	.	.	rs199574629	5/20	PASS	ENST00000392476	Transcript	.	G:0.0002	ENSG00000129657	10698	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0.001	.	.	S14L1_HUMAN	SEC14L1	HGNC	K7EQK4_HUMAN,K7ELU0_HUMAN,K7ELM0_HUMAN,K7EJ08_HUMAN,B4E0D1_HUMAN,B4DEZ7_HUMAN	.	UPI00006AB82A	SNV	SEC14L1,5_prime_UTR_variant,,ENST00000587820,;SEC14L1,5_prime_UTR_variant,,ENST00000436233,;SEC14L1,5_prime_UTR_variant,,ENST00000588880,;SEC14L1,5_prime_UTR_variant,,ENST00000585618,;SEC14L1,5_prime_UTR_variant,,ENST00000413679,;SEC14L1,5_prime_UTR_variant,,ENST00000586429,;SEC14L1,5_prime_UTR_variant,,ENST00000392476,;SEC14L1,5_prime_UTR_variant,,ENST00000443798,;SEC14L1,5_prime_UTR_variant,,ENST00000561721,;SEC14L1,5_prime_UTR_variant,,ENST00000430767,;SEC14L1,5_prime_UTR_variant,,ENST00000589827,;SEC14L1,upstream_gene_variant,,ENST00000591437,;SEC14L1,non_coding_transcript_exon_variant,,ENST00000586390,;SEC14L1,non_coding_transcript_exon_variant,,ENST00000588696,;SEC14L1,upstream_gene_variant,,ENST00000591786,;	551	79	76	SUCCESS
TP53	7157	.	GRCh37	17	7577148	7577149	+	frameshift_variant	Frame_Shift_Ins	INS	GA	GA	AAC	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	82	0	ENST00000269305.4:c.789_790delinsGTT	p.Asn263LysfsTer9	p.N263Kfs*9	ENST00000269305	NM_001126112.2	263	aaTCta/aaGTTta	0	.	.	.	.	.	AAC	NL/KFX	protein_coding	YES	CCDS11118.1	789-790	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCAGTAGATTACC	CODON|p.0?|c.1_1182del1182|6,CODON|p.L265delL|c.792_794delACT|3,CODON|p.L265fs*80|c.793delC|3,CODON|p.L265delL|c.790_792delCTA|4,CODON|p.L265M|c.793C>A|5,CODON|p.L264fs*81|c.790delC|3,CODON|p.L264I|c.790C>A|3,CODON|p.L264L|c.790C>T|5,BUFFER|p.N268H|c.802A>C|3,BUFFER|p.R267R|c.801G>T|3,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267Q|c.800G>A|3,BUFFER|p.R267P|c.800G>C|18,BUFFER|p.R267Q|c.800G>A|13,BUFFER|p.R267L|c.800G>T|6,BUFFER|p.R267L|c.800G>T|7,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267W|c.799C>T|8,BUFFER|p.R267W|c.799C>T|4,BUFFER|p.R267W|c.799C>T|30,BUFFER|p.G266fs*79|c.797delG|3,BUFFER|p.G266E|c.797G>A|11,BUFFER|p.G266E|c.797G>A|7,BUFFER|p.G266V|c.797G>T|5,BUFFER|p.G266E|c.797G>A|17,BUFFER|p.G266E|c.797G>A|64,BUFFER|p.G266V|c.797G>T|18,BUFFER|p.G266V|c.797G>T|46,BUFFER|p.G266R|c.796G>A|5,BUFFER|p.G266*|c.796G>T|13,BUFFER|p.G266R|c.796G>A|7,BUFFER|p.G266R|c.796G>A|36,BUFFER|p.G266R|c.796G>C|15,BUFFER|p.G266R|c.796G>A|6,BUFFER|p.L265L|c.795G>A|3,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265P|c.794T>C|17,BUFFER|p.L265R|c.794T>G|4,BUFFER|p.L265P|c.794T>C|4,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.N263fs*82|c.787delA|3,BUFFER|p.G262delG|c.784_786delGGT|12,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262fs*83|c.784delG|3,BUFFER|p.G262V|c.785G>T|9,BUFFER|p.G262D|c.785G>A|6,BUFFER|p.G262V|c.785G>T|18,BUFFER|p.G262V|c.785G>T|3,BUFFER|p.S261R|c.783T>G|3,BUFFER|p.?|c.783-1G>T|4,BUFFER|p.?|c.783-1G>T|19,BUFFER|p.?|c.783-1G>A|4,BUFFER|p.?|c.783-1G>T|8,BUFFER|p.?|c.783-1G>A|3,BUFFER|p.?|c.783-1G>T|5,BUFFER|p.?|c.783-1G>A|8,BUFFER|p.?|c.783-2A>T|3,BUFFER|p.?|c.783-2A>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	substitution	TP53,frameshift_variant,p.Asn263LysfsTer9,ENST00000420246,;TP53,frameshift_variant,p.Asn263LysfsTer9,ENST00000269305,;TP53,frameshift_variant,p.Asn131LysfsTer9,ENST00000509690,;TP53,frameshift_variant,p.Asn263LysfsTer9,ENST00000359597,;TP53,frameshift_variant,p.Asn263LysfsTer9,ENST00000445888,;TP53,frameshift_variant,p.Asn263LysfsTer9,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	979-980	82	95	SUCCESS
DNAH17	8632	.	GRCh37	17	76445590	76445590	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	107	0	ENST00000389840.5:c.11075T>A	p.Leu3692Gln	p.L3692Q	ENST00000389840		3692	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	.	11075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCAGGTTG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	.	.	ENSP00000374490	.	69/81	.	.	.	.	.	.	.	.	.	69/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Leu3701Gln,ENST00000585328,;DNAH17,missense_variant,p.Leu3692Gln,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,downstream_gene_variant,,ENST00000592152,;DNAH17,missense_variant,p.Leu907Gln,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;	11200	107	121	SUCCESS
GUCY2D	3000	.	GRCh37	17	7909980	7909980	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	71	0	ENST00000254854.4:c.1326A>T	p.Ala442=	p.A442=	ENST00000254854	NM_000180.3	442	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11127.1	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCACCCGG	NONE	.	.	hmmpanther:PTHR11920:SF228,hmmpanther:PTHR11920,Superfamily_domains:SSF53822	.	.	ENSP00000254854	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000254854	Transcript	.	.	ENSG00000132518	4689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC2D_HUMAN	GUCY2D	HGNC	.	.	UPI0000128C1C	SNV	GUCY2D,synonymous_variant,p.%3D,ENST00000254854,;	1476	71	85	SUCCESS
SLC39A6	25800	.	GRCh37	18	33689641	33689641	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	183	323	0	ENST00000269187.5:c.2183A>T	p.Gln728Leu	p.Q728L	ENST00000269187	NM_012319.3	728	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42428.1	2183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTGTAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF8,Pfam_domain:PF02535	.	.	ENSP00000269187	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000269187	Transcript	.	.	ENSG00000141424	18607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S39A6_HUMAN	SLC39A6	HGNC	K7EQ91_HUMAN	.	UPI000004EC93	SNV	SLC39A6,missense_variant,p.Gln728Leu,ENST00000269187,;SLC39A6,missense_variant,p.Gln728Leu,ENST00000590986,;SLC39A6,downstream_gene_variant,,ENST00000586829,;SLC39A6,downstream_gene_variant,,ENST00000440549,;	2397	323	354	SUCCESS
NEDD4L	23327	.	GRCh37	18	56056334	56056334	+	synonymous_variant	Silent	SNP	C	C	T	rs375065890	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	6	114	0	ENST00000400345.3:c.2565C>T	p.Leu855=	p.L855=	ENST00000400345	NM_001144967.2	855	ctC/ctT	0	T:0	.	.	.	.	T	L	protein_coding	YES	CCDS45872.1	2565	MUTECT|MUSE	.	GGCCTCGGTGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	T:0.0001	ENSP00000383199	.	28/31	.	.	.	.	.	.	.	.	rs375065890	28/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,synonymous_variant,p.%3D,ENST00000456173,;NEDD4L,synonymous_variant,p.%3D,ENST00000256832,;NEDD4L,synonymous_variant,p.%3D,ENST00000586263,;NEDD4L,synonymous_variant,p.%3D,ENST00000357895,;NEDD4L,synonymous_variant,p.%3D,ENST00000400345,;NEDD4L,synonymous_variant,p.%3D,ENST00000431212,;NEDD4L,synonymous_variant,p.%3D,ENST00000435432,;NEDD4L,synonymous_variant,p.%3D,ENST00000456986,;NEDD4L,synonymous_variant,p.%3D,ENST00000356462,;NEDD4L,synonymous_variant,p.%3D,ENST00000587881,;NEDD4L,synonymous_variant,p.%3D,ENST00000256830,;NEDD4L,synonymous_variant,p.%3D,ENST00000382850,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000592097,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000588712,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590248,;NEDD4L,upstream_gene_variant,,ENST00000590506,;	2848	114	99	SUCCESS
SERPINB4	6318	.	GRCh37	18	61310753	61310753	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	80	207	0	ENST00000341074.5:c.59G>C	p.Arg20Thr	p.R20T	ENST00000341074	NM_002974.2	20	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS11986.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCTGAAC	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000343445	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000341074	Transcript	.	.	ENSG00000206073	10570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.722)	.	tolerated(0.06)	.	SPB4_HUMAN	SERPINB4	HGNC	.	.	UPI0000038A1A	SNV	SERPINB4,missense_variant,p.Arg20Thr,ENST00000341074,;SERPINB4,missense_variant,p.Arg22Thr,ENST00000413673,;SERPINB4,missense_variant,p.Arg20Thr,ENST00000356424,;SERPINB4,missense_variant,p.Arg20Thr,ENST00000436264,;SERPINB11,upstream_gene_variant,,ENST00000489748,;SERPINB4,non_coding_transcript_exon_variant,,ENST00000498496,;	175	207	169	SUCCESS
SMARCA4	6597	.	GRCh37	19	11143993	11143993	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1568509370	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	64	152	0	ENST00000344626.4:c.3574C>T	p.Arg1192Cys	p.R1192C	ENST00000344626	NM_003072.3	1192	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS12253.1	3574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCGCATC	SITE|p.R1192C|c.3574C>T|3	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51194	.	.	ENSP00000395654	.	27/36	.	.	.	.	.	.	.	.	COSM1611528,COSM303247,COSM2813735,COSM1611527	27/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(1)	.	.	1,1,1,1	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Arg1192Cys,ENST00000450717,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000358026,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000413806,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000444061,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000541122,;SMARCA4,missense_variant,p.Arg37Cys,ENST00000592158,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000590574,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000344626,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000589677,;SMARCA4,missense_variant,p.Arg1192Cys,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586892,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,downstream_gene_variant,,ENST00000591545,;	3855	152	140	SUCCESS
ABHD8	79575	.	GRCh37	19	17411707	17411707	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1392149270	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	91	1	ENST00000247706.3:c.719G>A	p.Arg240His	p.R240H	ENST00000247706	NM_024527.4	240	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12355.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGCGCTTG	NONE	.	.	hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF23,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000247706	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000247706	Transcript	.	.	ENSG00000127220	23759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0.05)	.	ABHD8_HUMAN	ABHD8	HGNC	B2C6G3_HUMAN	.	UPI0000043630	SNV	ABHD8,missense_variant,p.Arg240His,ENST00000247706,;MRPL34,intron_variant,,ENST00000600434,;MRPL34,intron_variant,,ENST00000595444,;ABHD8,downstream_gene_variant,,ENST00000594194,;MRPL34,upstream_gene_variant,,ENST00000252602,;ABHD8,downstream_gene_variant,,ENST00000593489,;MRPL34,upstream_gene_variant,,ENST00000602206,;MRPL34,upstream_gene_variant,,ENST00000594999,;CTD-2278I10.4,upstream_gene_variant,,ENST00000594077,;MRPL34,downstream_gene_variant,,ENST00000597996,;	959	92	114	SUCCESS
CLIP3	25999	.	GRCh37	19	36510204	36510204	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	34	0	ENST00000360535.4:c.923G>A	p.Gly308Asp	p.G308D	ENST00000360535	NM_015526.2	308	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12486.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGCCCGTC	NONE	.	.	hmmpanther:PTHR18916:SF11,hmmpanther:PTHR18916,Pfam_domain:PF01302,Gene3D:2.30.30.190,SMART_domains:SM01052,Superfamily_domains:SSF74924	.	.	ENSP00000353732	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000360535	Transcript	.	.	ENSG00000105270	24314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLIP3_HUMAN	CLIP3	HGNC	K7ESF3_HUMAN,B3KR09_HUMAN,B3KP03_HUMAN	.	UPI0000044718	SNV	CLIP3,missense_variant,p.Gly308Asp,ENST00000360535,;CLIP3,missense_variant,p.Gly308Asp,ENST00000593074,;AC002116.7,non_coding_transcript_exon_variant,,ENST00000586962,;	1151	34	37	SUCCESS
WDR62	284403	.	GRCh37	19	36545927	36545927	+	synonymous_variant	Silent	SNP	G	G	A	rs1174676813	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	100	128	0	ENST00000270301.7:c.54G>A	p.Leu18=	p.L18=	ENST00000270301		18	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46059.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGCCCTC	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF362	.	.	ENSP00000384792	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000401500	Transcript	1	.	ENSG00000075702	24502	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR62_HUMAN	WDR62	HGNC	.	.	UPI000022A7E9	SNV	WDR62,synonymous_variant,p.%3D,ENST00000270301,;WDR62,synonymous_variant,p.%3D,ENST00000388999,;WDR62,synonymous_variant,p.%3D,ENST00000427823,;WDR62,synonymous_variant,p.%3D,ENST00000401500,;THAP8,upstream_gene_variant,,ENST00000538849,;THAP8,upstream_gene_variant,,ENST00000292894,;WDR62,non_coding_transcript_exon_variant,,ENST00000378860,;THAP8,upstream_gene_variant,,ENST00000524106,;WDR62,synonymous_variant,p.%3D,ENST00000587391,;WDR62,non_coding_transcript_exon_variant,,ENST00000608676,;THAP8,upstream_gene_variant,,ENST00000522483,;THAP8,upstream_gene_variant,,ENST00000607730,;	89	128	150	SUCCESS
FCGBP	8857	.	GRCh37	19	40402152	40402152	+	synonymous_variant	Silent	SNP	G	G	A	rs587742284	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	42	1	ENST00000221347.6:c.5247C>T	p.Asp1749=	p.D1749=	ENST00000221347	NM_003890.2	1749	gaC/gaT	0	.	A:0.0393	.	A:0.1657	.	A	D	protein_coding	YES	CCDS12546.1	5247	SOMATICSNIPER|VARSCANS	.	ATCTCGTCCTT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	A:0.0536	.	ENSP00000221347	A:0.1471	11/36	.	.	.	.	.	.	.	.	rs587742284	11/36	common_in_exac	ENST00000221347	Transcript	.	A:0.0988	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.1288	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;FCGBP,intron_variant,,ENST00000601713,;	5255	43	25	SUCCESS
SIX5	147912	.	GRCh37	19	46272022	46272022	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1162093037	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	70	87	1	ENST00000317578.6:c.81G>C	p.Glu27Asp	p.E27D	ENST00000317578	NM_175875.4	27	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS12673.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTCTTC	NONE	.	.	hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000316842	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000317578	Transcript	1	.	ENSG00000177045	10891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.12)	.	SIX5_HUMAN	SIX5	HGNC	.	.	UPI0000366E2B	SNV	SIX5,missense_variant,p.Glu27Asp,ENST00000560168,;SIX5,missense_variant,p.Glu27Asp,ENST00000317578,;DMPK,downstream_gene_variant,,ENST00000593574,;DMPK,downstream_gene_variant,,ENST00000597660,;DMPK,downstream_gene_variant,,ENST00000291270,;DMPK,downstream_gene_variant,,ENST00000458663,;SIX5,upstream_gene_variant,,ENST00000560160,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000447742,;DMPK,downstream_gene_variant,,ENST00000354227,;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000343373,;AC074212.5,non_coding_transcript_exon_variant,,ENST00000592217,;AC074212.6,intron_variant,,ENST00000590076,;AC074212.5,intron_variant,,ENST00000559756,;AC074212.6,upstream_gene_variant,,ENST00000591530,;AC074212.6,upstream_gene_variant,,ENST00000586498,;AC074212.6,upstream_gene_variant,,ENST00000586251,;DMPK,downstream_gene_variant,,ENST00000588522,;DMPK,downstream_gene_variant,,ENST00000600370,;DMPK,downstream_gene_variant,,ENST00000598272,;DMPK,downstream_gene_variant,,ENST00000596686,;	463	88	140	SUCCESS
GRIN2D	2906	.	GRCh37	19	48908538	48908538	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	52	65	0	ENST00000263269.3:c.1013A>T	p.Tyr338Phe	p.Y338F	ENST00000263269	NM_000836.2	338	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS12719.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTATGGTT	NONE	.	.	hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Superfamily_domains:SSF53822	.	.	ENSP00000263269	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.14)	.	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,missense_variant,p.Tyr338Phe,ENST00000263269,;	1101	65	88	SUCCESS
LMTK3	114783	.	GRCh37	19	49001083	49001083	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	24	0	ENST00000600059.1:c.3243C>T	p.Asn1081=	p.N1081=	ENST00000600059		1081	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS46136.1	3330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGTTCTT	NONE	.	.	hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF1	.	.	ENSP00000270238	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000270238	Transcript	.	.	ENSG00000142235	19295	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LMTK3	HGNC	.	.	UPI00001D8182	SNV	LMTK3,synonymous_variant,p.%3D,ENST00000600059,;LMTK3,synonymous_variant,p.%3D,ENST00000270238,;	3330	24	29	SUCCESS
ZNF628	89887	.	GRCh37	19	55995139	55995139	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	67	119	0	ENST00000598519.1:c.2579A>C	p.Gln860Pro	p.Q860P	ENST00000598519	NM_033113.2	860	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS33116.3	2579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGGAGG	NONE	.	.	.	.	.	ENSP00000469591	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000598519	Transcript	.	.	ENSG00000197483	28054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.06)	.	ZN628_HUMAN	ZNF628	HGNC	K7EL41_HUMAN	.	UPI00026B9C6E	SNV	ZNF628,missense_variant,p.Gln856Pro,ENST00000391718,;ZNF628,missense_variant,p.Gln860Pro,ENST00000598519,;SSC5D,upstream_gene_variant,,ENST00000594321,;SSC5D,upstream_gene_variant,,ENST00000389623,;SSC5D,upstream_gene_variant,,ENST00000587166,;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;NAT14,upstream_gene_variant,,ENST00000587400,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000205194,;NAT14,upstream_gene_variant,,ENST00000592719,;SSC5D,upstream_gene_variant,,ENST00000588254,;	3132	119	132	SUCCESS
SYCP1	6847	.	GRCh37	1	115527442	115527442	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs200809568	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	332	74	355	0	ENST00000369518.1:c.2656T>A	p.Phe886Ile	p.F886I	ENST00000369518		886	Ttt/Att	0	.	G:0	.	G:0	.	A	F/I	protein_coding	YES	CCDS879.1	2656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTTTGAA	BUFFER|p.R882K|c.2645G>A|4	byCluster|by1000G	.	hmmpanther:PTHR18878	G:0.001	.	ENSP00000358535	G:0	30/32	.	.	.	.	.	.	.	.	rs200809568	30/32	PASS	ENST00000369522	Transcript	.	G:0.0002	ENSG00000198765	11487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	G:0	tolerated(0.14)	.	SYCP1_HUMAN	SYCP1	HGNC	Q5VXJ5_HUMAN	.	UPI00001CE3B9	SNV	SYCP1,missense_variant,p.Phe886Ile,ENST00000369518,;SYCP1,missense_variant,p.Phe886Ile,ENST00000369522,;SYCP1,intron_variant,,ENST00000477590,;	2896	355	406	SUCCESS
NHLH2	4808	.	GRCh37	1	116380919	116380919	+	synonymous_variant	Silent	SNP	G	G	A	rs766590445	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	35	73	0	ENST00000320238.3:c.75C>T	p.Gly25=	p.G25=	ENST00000320238	NM_005599.3	25	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS885.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCGCCCAG	NONE	.	.	hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF14	.	.	ENSP00000358519	.	1/1	.	.	.	.	.	.	.	.	rs766590445	1/1	PASS	ENST00000369506	Transcript	.	.	ENSG00000177551	7818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEN2_HUMAN	NHLH2	HGNC	A6PVY9_HUMAN	.	UPI000012C5FF	SNV	NHLH2,synonymous_variant,p.%3D,ENST00000429731,;NHLH2,synonymous_variant,p.%3D,ENST00000369506,;NHLH2,synonymous_variant,p.%3D,ENST00000320238,;	5620	73	114	SUCCESS
OR10K1	391109	.	GRCh37	1	158435707	158435707	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	25	108	0	ENST00000289451.2:c.356G>T	p.Gly119Val	p.G119V	ENST00000289451	NM_001004473.1	119	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS30897.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGCTATG	BUFFER|p.R122C|c.364C>T|3	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF112,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000289451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000289451	Transcript	.	.	ENSG00000173285	14693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O10K1_HUMAN	OR10K1	HGNC	.	.	UPI0000041B19	SNV	OR10K1,missense_variant,p.Gly119Val,ENST00000289451,;	436	108	139	SUCCESS
MFAP2	4237	.	GRCh37	1	17303683	17303683	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	96	0	ENST00000375535.3:c.48G>T	p.Leu16=	p.L16=	ENST00000375535		16	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS174.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCAGCAA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16485,hmmpanther:PTHR16485:SF3,Pfam_domain:PF05507	.	.	ENSP00000364685	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000375535	Transcript	.	.	ENSG00000117122	7033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFAP2_HUMAN	MFAP2	HGNC	.	.	UPI000012F02C	SNV	MFAP2,synonymous_variant,p.%3D,ENST00000438542,;MFAP2,synonymous_variant,p.%3D,ENST00000375534,;MFAP2,synonymous_variant,p.%3D,ENST00000375535,;CROCC,downstream_gene_variant,,ENST00000375541,;RP1-37C10.3,upstream_gene_variant,,ENST00000446261,;MFAP2,non_coding_transcript_exon_variant,,ENST00000476788,;MFAP2,non_coding_transcript_exon_variant,,ENST00000478684,;MFAP2,non_coding_transcript_exon_variant,,ENST00000490075,;MFAP2,non_coding_transcript_exon_variant,,ENST00000492598,;	338	96	118	SUCCESS
MINOS1	0	.	GRCh37	1	19950009	19950009	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	48	0	ENST00000322753.6:c.154G>T	p.Gly52Ter	p.G52*	ENST00000322753	NM_001032363.3	52	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS30620.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTAGGAATG	NONE	.	.	Pfam_domain:PF04418,hmmpanther:PTHR21304	.	.	ENSP00000325562	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000322753	Transcript	.	.	ENSG00000173436	32068	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOS1_HUMAN	MINOS1	HGNC	R4GNA1_HUMAN	.	UPI000015D608	SNV	MINOS1,stop_gained,p.Gly52Ter,ENST00000322753,;MINOS1-NBL1,5_prime_UTR_variant,,ENST00000602293,;MINOS1-NBL1,intron_variant,,ENST00000602662,;MINOS1,non_coding_transcript_exon_variant,,ENST00000498642,;MINOS1,non_coding_transcript_exon_variant,,ENST00000481464,;MINOS1,non_coding_transcript_exon_variant,,ENST00000462646,;MINOS1,non_coding_transcript_exon_variant,,ENST00000486890,;MINOS1,non_coding_transcript_exon_variant,,ENST00000467029,;MINOS1,non_coding_transcript_exon_variant,,ENST00000485362,;MINOS1-NBL1,stop_gained,p.Gly45Ter,ENST00000602384,;MINOS1-NBL1,intron_variant,,ENST00000602450,;	210	48	42	SUCCESS
PTPN14	5784	.	GRCh37	1	214557127	214557127	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	49	1	ENST00000366956.5:c.2071C>A	p.Gln691Lys	p.Q691K	ENST00000366956	NM_005401.4	691	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1514.1	2071	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	ATACTGAGGGA	NONE	.	.	PIRSF_domain:PIRSF000934,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77	.	.	ENSP00000355923	.	13/19	.	.	.	.	.	.	.	.	COSM678666	13/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.002)	.	tolerated(0.59)	1	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Gln691Lys,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	2266	50	77	SUCCESS
ESRRG	2104	.	GRCh37	1	216741353	216741353	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1477674632	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	8	45	0	ENST00000408911.3:c.677T>A	p.Leu226Gln	p.L226Q	ENST00000408911	NM_001438.3	226	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS58061.1	692	MUTECT|MUSE|VARSCANS	.	GAACCAGCTGA	NONE	.	.	PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,hmmpanther:PTHR24084	.	.	ENSP00000355904	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000366937	Transcript	.	.	ENSG00000196482	3474	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.735)	.	tolerated(0.23)	.	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,missense_variant,p.Leu203Gln,ENST00000493748,;ESRRG,missense_variant,p.Leu203Gln,ENST00000487276,;ESRRG,missense_variant,p.Leu203Gln,ENST00000391890,;ESRRG,missense_variant,p.Leu203Gln,ENST00000366938,;ESRRG,missense_variant,p.Leu203Gln,ENST00000475275,;ESRRG,missense_variant,p.Leu164Gln,ENST00000463665,;ESRRG,missense_variant,p.Leu231Gln,ENST00000366937,;ESRRG,missense_variant,p.Leu203Gln,ENST00000360012,;ESRRG,missense_variant,p.Leu203Gln,ENST00000361395,;ESRRG,missense_variant,p.Leu226Gln,ENST00000408911,;ESRRG,missense_variant,p.Leu203Gln,ENST00000366940,;ESRRG,missense_variant,p.Leu203Gln,ENST00000361525,;ESRRG,missense_variant,p.Leu203Gln,ENST00000359162,;ESRRG,missense_variant,p.Leu203Gln,ENST00000493603,;ESRRG,3_prime_UTR_variant,,ENST00000586199,;	959	45	96	SUCCESS
ZBTB40	9923	.	GRCh37	1	22837792	22837792	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	101	0	ENST00000375647.4:c.1954A>T	p.Lys652Ter	p.K652*	ENST00000375647	NM_014870.3	652	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS224.1	1954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAAATCT	NONE	.	.	hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394	.	.	ENSP00000384527	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,stop_gained,p.Lys652Ter,ENST00000404138,;ZBTB40,stop_gained,p.Lys652Ter,ENST00000375647,;ZBTB40,stop_gained,p.Lys540Ter,ENST00000374651,;	2465	101	107	SUCCESS
AHCTF1	25909	.	GRCh37	1	247016483	247016483	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	461	64	401	0	ENST00000326225.3:c.4500A>T	p.Glu1500Asp	p.E1500D	ENST00000326225	NM_015446.4	1500	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS1629.2	4500	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACTTCATG	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	32/36	.	.	.	.	.	.	.	.	.	32/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.111)	.	tolerated(0.19)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Glu1491Asp,ENST00000391829,;AHCTF1,missense_variant,p.Glu1526Asp,ENST00000366508,;AHCTF1,missense_variant,p.Glu1500Asp,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,upstream_gene_variant,,ENST00000498601,;	4597	401	526	SUCCESS
OR2T4	127074	.	GRCh37	1	248525837	248525837	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375159583	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	531	50	440	0	ENST00000366475.1:c.955C>A	p.Pro319Thr	p.P319T	ENST00000366475	NM_001004696.1	319	Cct/Act	0	G:0	.	.	.	.	A	P/T	protein_coding	YES	CCDS31113.1	955	MUTECT|MUSE|VARSCANS	.	TGAACCCTTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	G:0.0001	ENSP00000355431	.	1/1	.	.	.	.	.	.	.	.	rs375159583	1/1	PASS	ENST00000366475	Transcript	.	.	ENSG00000196944	15016	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.725)	.	deleterious(0.02)	.	OR2T4_HUMAN	OR2T4	HGNC	.	.	UPI000004B9CC	SNV	OR2T4,missense_variant,p.Pro319Thr,ENST00000366475,;	955	440	582	SUCCESS
RUNX3	864	.	GRCh37	1	25229122	25229122	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	53	121	0	ENST00000308873.6:c.739C>A	p.Gln247Lys	p.Q247K	ENST00000308873	NM_004350.2	247	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS30633.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGGCGGG	NONE	.	.	PIRSF_domain:PIRSF009374,Gene3D:1b8xA03,hmmpanther:PTHR11950	.	.	ENSP00000382800	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000399916	Transcript	.	.	ENSG00000020633	10473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.09)	.	RUNX3_HUMAN	RUNX3	HGNC	.	.	UPI000002B2FF	SNV	RUNX3,missense_variant,p.Gln154Lys,ENST00000540420,;RUNX3,missense_variant,p.Gln247Lys,ENST00000308873,;RUNX3,missense_variant,p.Gln261Lys,ENST00000338888,;RUNX3,missense_variant,p.Gln261Lys,ENST00000399916,;RUNX3,non_coding_transcript_exon_variant,,ENST00000496967,;	1220	121	143	SUCCESS
RUNX3	864	.	GRCh37	1	25229123	25229123	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	53	122	0	ENST00000308873.6:c.738C>A	p.Arg246=	p.R246=	ENST00000308873	NM_004350.2	246	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30633.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGCGGGG	NONE	.	.	PIRSF_domain:PIRSF009374,Gene3D:1b8xA03,hmmpanther:PTHR11950	.	.	ENSP00000382800	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000399916	Transcript	.	.	ENSG00000020633	10473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUNX3_HUMAN	RUNX3	HGNC	.	.	UPI000002B2FF	SNV	RUNX3,synonymous_variant,p.%3D,ENST00000540420,;RUNX3,synonymous_variant,p.%3D,ENST00000308873,;RUNX3,synonymous_variant,p.%3D,ENST00000338888,;RUNX3,synonymous_variant,p.%3D,ENST00000399916,;RUNX3,non_coding_transcript_exon_variant,,ENST00000496967,;	1219	122	142	SUCCESS
USP24	23358	.	GRCh37	1	55609866	55609866	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	107	246	0	ENST00000294383.6:c.2373A>T	p.Leu791Phe	p.L791F	ENST00000294383	NM_015306.2	791	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS44154.2	2373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATAAGTT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349	.	.	ENSP00000294383	.	21/68	.	.	.	.	.	.	.	.	.	21/68	PASS	ENST00000294383	Transcript	.	.	ENSG00000162402	12623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	tolerated(0.07)	.	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	SNV	USP24,missense_variant,p.Leu631Phe,ENST00000407756,;USP24,missense_variant,p.Leu791Phe,ENST00000294383,;	2373	246	300	SUCCESS
KANK4	163782	.	GRCh37	1	62734068	62734068	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	43	0	ENST00000371153.4:c.2122A>T	p.Lys708Ter	p.K708*	ENST00000371153	NM_181712.4	708	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS620.1	2122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTTGACAT	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20	.	.	ENSP00000360195	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000371153	Transcript	.	.	ENSG00000132854	27263	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KANK4_HUMAN	KANK4	HGNC	B1ALP6_HUMAN,B1ALP5_HUMAN	.	UPI000022AE73	SNV	KANK4,stop_gained,p.Lys64Ter,ENST00000371150,;KANK4,stop_gained,p.Lys80Ter,ENST00000354381,;KANK4,stop_gained,p.Lys708Ter,ENST00000371153,;KANK4,upstream_gene_variant,,ENST00000317477,;	2501	43	48	SUCCESS
HFM1	164045	.	GRCh37	1	91784922	91784922	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	49	167	0	ENST00000370425.3:c.2608A>G	p.Ile870Val	p.I870V	ENST00000370425	NM_001017975.3	870	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS30769.2	2608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAATGCATC	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Gene3D:2q0zX01,Pfam_domain:PF02889,SMART_domains:SM00973,Superfamily_domains:SSF158702	.	.	ENSP00000359454	.	24/39	.	.	.	.	.	.	.	.	.	24/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	deleterious(0.03)	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,missense_variant,p.Ile549Val,ENST00000370424,;HFM1,missense_variant,p.Ile126Val,ENST00000430465,;HFM1,missense_variant,p.Ile870Val,ENST00000370425,;HFM1,missense_variant,p.Ile102Val,ENST00000294696,;HFM1,non_coding_transcript_exon_variant,,ENST00000497520,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;	2707	167	212	SUCCESS
TGM6	343641	.	GRCh37	20	2413197	2413197	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	92	0	ENST00000202625.2:c.2029A>C	p.Ser677Arg	p.S677R	ENST00000202625	NM_198994.2	677	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS13025.1	2029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAAGTGGC	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000202625	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000202625	Transcript	1	.	ENSG00000166948	16255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TGM3L_HUMAN	TGM6	HGNC	.	.	UPI0000367011	SNV	TGM6,missense_variant,p.Ser677Arg,ENST00000202625,;TGM6,3_prime_UTR_variant,,ENST00000381423,;	2090	92	139	SUCCESS
PLTP	5360	.	GRCh37	20	44533489	44533489	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766473918	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	98	182	0	ENST00000372431.3:c.892G>A	p.Asp298Asn	p.D298N	ENST00000372431	NM_006227.3	298	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13386.1	892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCGTGGG	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF16,Gene3D:1ewfA02,Pfam_domain:PF02886,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	.	ENSP00000417138	.	9/15	.	.	.	.	.	.	.	.	rs766473918	9/15	PASS	ENST00000477313	Transcript	.	.	ENSG00000100979	9093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.365)	.	tolerated(0.09)	.	PLTP_HUMAN	PLTP	HGNC	.	.	UPI0000131C7C	SNV	PLTP,missense_variant,p.Asp210Asn,ENST00000372420,;PLTP,missense_variant,p.Asp298Asn,ENST00000372431,;PLTP,missense_variant,p.Asp203Asn,ENST00000420868,;PLTP,missense_variant,p.Asp318Asn,ENST00000542937,;PLTP,missense_variant,p.Asp298Asn,ENST00000477313,;PLTP,missense_variant,p.Asp246Asn,ENST00000354050,;	1487	182	267	SUCCESS
RBBP8NL	140893	.	GRCh37	20	60989520	60989520	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs746079357	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	84	0	ENST00000252998.1:c.887T>A	p.Leu296Gln	p.L296Q	ENST00000252998	NM_080833.2	296	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS13498.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACAGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1	.	.	ENSP00000252998	.	10/14	.	.	.	.	.	.	.	.	rs746079357	10/14	PASS	ENST00000252998	Transcript	.	.	ENSG00000130701	16144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	RB8NL_HUMAN	RBBP8NL	HGNC	.	.	UPI000013CDA2	SNV	RBBP8NL,missense_variant,p.Leu296Gln,ENST00000252998,;	1044	84	120	SUCCESS
ITGB2	3689	.	GRCh37	21	46321441	46321441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	36	67	0	ENST00000302347.5:c.707G>T	p.Gly236Val	p.G236V	ENST00000302347	NM_000211.3	236	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13716.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCACCC	NONE	.	.	Prints_domain:PR01186,Superfamily_domains:SSF53300,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Pfam_domain:PF00362,Gene3D:3.40.50.410,hmmpanther:PTHR10082:SF15,hmmpanther:PTHR10082	.	.	ENSP00000380948	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Gly236Val,ENST00000397850,;ITGB2,missense_variant,p.Gly227Val,ENST00000320216,;ITGB2,missense_variant,p.Gly236Val,ENST00000355153,;ITGB2,missense_variant,p.Gly236Val,ENST00000397852,;ITGB2,missense_variant,p.Gly236Val,ENST00000397857,;ITGB2,missense_variant,p.Gly236Val,ENST00000302347,;ITGB2,missense_variant,p.Gly179Val,ENST00000397854,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,downstream_gene_variant,,ENST00000520389,;	1160	67	75	SUCCESS
LSS	4047	.	GRCh37	21	47614405	47614405	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs746743234	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	48	0	ENST00000356396.4:c.1988G>A	p.Arg663Gln	p.R663Q	ENST00000356396	NM_001001438.2	663	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13733.1	1988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCGAACG	NONE	.	.	hmmpanther:PTHR11764:SF12,hmmpanther:PTHR11764,Pfam_domain:PF13249,Gene3D:1.50.10.20,TIGRFAM_domain:TIGR01787,Superfamily_domains:SSF48239	.	.	ENSP00000380837	.	20/22	.	.	.	.	.	.	.	.	rs746743234	20/22	PASS	ENST00000397728	Transcript	.	.	ENSG00000160285	6708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.31)	.	ERG7_HUMAN	LSS	HGNC	.	.	UPI000012A14D	SNV	LSS,missense_variant,p.Arg583Gln,ENST00000457828,;LSS,missense_variant,p.Arg663Gln,ENST00000397728,;LSS,missense_variant,p.Arg31Gln,ENST00000419093,;LSS,missense_variant,p.Arg663Gln,ENST00000356396,;LSS,missense_variant,p.Arg652Gln,ENST00000522411,;AP001468.1,upstream_gene_variant,,ENST00000594486,;LSS,downstream_gene_variant,,ENST00000484808,;LSS,upstream_gene_variant,,ENST00000474319,;LSS,upstream_gene_variant,,ENST00000491729,;	2067	48	64	SUCCESS
MICAL3	57553	.	GRCh37	22	18347692	18347692	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199950640	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	91	0	ENST00000441493.2:c.2578G>A	p.Val860Met	p.V860M	ENST00000441493	NM_015241.2	860	Gtg/Atg	0	T:0	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS46659.1	2578	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGGCGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	T:0	T:0.0011	ENSP00000416015	T:0.002	19/32	.	.	.	.	.	.	.	.	rs199950640,COSM352992,COSM352993,COSM352994	19/32	common_in_exac	ENST00000441493	Transcript	.	T:0.0004	ENSG00000243156	24694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	benign(0.004)	T:0	.	0,1,1,1	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,missense_variant,p.Val888Met,ENST00000207726,;MICAL3,missense_variant,p.Val860Met,ENST00000444520,;MICAL3,missense_variant,p.Val860Met,ENST00000383094,;MICAL3,missense_variant,p.Val888Met,ENST00000414725,;MICAL3,missense_variant,p.Val407Met,ENST00000461307,;MICAL3,missense_variant,p.Val984Met,ENST00000585038,;MICAL3,missense_variant,p.Val984Met,ENST00000429452,;MICAL3,missense_variant,p.Val860Met,ENST00000441493,;MICAL3,missense_variant,p.Val860Met,ENST00000400561,;MICAL3,downstream_gene_variant,,ENST00000462645,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;	2931	91	91	SUCCESS
MYH9	4627	.	GRCh37	22	36684295	36684295	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs763903591	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	31	0	ENST00000216181.5:c.4932+3A>G		p.X1644_splice	ENST00000216181	NM_002473.4	1644		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13927.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTTACCTG	NONE	.	.	.	.	.	ENSP00000216181	.	.	.	.	.	.	.	.	.	.	rs763903591	.	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	LOW	34/40	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,splice_region_variant,,ENST00000216181,;MYH9,upstream_gene_variant,,ENST00000475726,;MYH9,upstream_gene_variant,,ENST00000486218,;	.	31	24	SUCCESS
TXN2	25828	.	GRCh37	22	36863964	36863964	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	49	60	0	ENST00000216185.2:c.388G>C	p.Val130Leu	p.V130L	ENST00000216185		130	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS13928.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACACCTGGG	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF235,TIGRFAM_domain:TIGR01068,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00421	.	.	ENSP00000216185	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000216185	Transcript	.	.	ENSG00000100348	17772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.859)	.	deleterious(0)	.	THIOM_HUMAN	TXN2	HGNC	M0QXH0_HUMAN,B4DX69_HUMAN	.	UPI0000001BCB	SNV	TXN2,missense_variant,p.Val130Leu,ENST00000403313,;TXN2,missense_variant,p.Val28Leu,ENST00000416967,;TXN2,missense_variant,p.Val130Leu,ENST00000216185,;TXN2,splice_region_variant,,ENST00000487725,;TXN2,splice_region_variant,,ENST00000411915,;	855	60	71	SUCCESS
MICALL1	85377	.	GRCh37	22	38328562	38328562	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	52	95	0	ENST00000215957.6:c.2019C>G		p.X673_splice	ENST00000215957	NM_033386.3	673	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS13961.1	2019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCAGGC	NONE	.	.	hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33	.	.	ENSP00000215957	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,synonymous_variant,p.%3D,ENST00000454685,;MICALL1,synonymous_variant,p.%3D,ENST00000215957,;MICALL1,upstream_gene_variant,,ENST00000424008,;MICALL1,splice_region_variant,,ENST00000402631,;	2145	95	106	SUCCESS
EP300	2033	.	GRCh37	22	41488968	41488968	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	89	202	0	ENST00000263253.7:c.-41G>A		p.*14*	ENST00000263253	NM_001429.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14010.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGATTCT	NONE	.	.	.	.	.	ENSP00000263253	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,5_prime_UTR_variant,,ENST00000263253,;MIR1281,downstream_gene_variant,,ENST00000408233,;	1179	202	176	SUCCESS
MARCO	8685	.	GRCh37	2	119739022	119739022	+	synonymous_variant	Silent	SNP	G	G	T	rs1001316519	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	34	124	0	ENST00000327097.4:c.804G>T	p.Gly268=	p.G268=	ENST00000327097	NM_006770.3	268	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2124.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGGTCAT	NONE	.	.	hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000318916	.	9/17	.	.	.	.	.	.	.	.	COSM3565737	9/17	PASS	ENST00000327097	Transcript	.	.	ENSG00000019169	6895	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MARCO_HUMAN	MARCO	HGNC	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN	.	UPI0000000DF8	SNV	MARCO,synonymous_variant,p.%3D,ENST00000327097,;MARCO,synonymous_variant,p.%3D,ENST00000541757,;	939	124	171	SUCCESS
UBR3	130507	.	GRCh37	2	170751740	170751740	+	synonymous_variant	Silent	SNP	A	A	G	rs535452459	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	414	121	396	1	ENST00000272793.5:c.1155A>G	p.Leu385=	p.L385=	ENST00000272793		385	ctA/ctG	0	.	G:0.0008	.	G:0	.	G	L	protein_coding	YES	CCDS2238.2	1155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTATTATT	NONE	by1000G	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	G:0	.	ENSP00000396068	G:0	7/39	.	.	.	.	.	.	.	.	rs535452459	7/39	PASS	ENST00000418381	Transcript	.	G:0.0002	ENSG00000144357	30467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	SNV	UBR3,synonymous_variant,p.%3D,ENST00000418381,;UBR3,synonymous_variant,p.%3D,ENST00000272793,;	1155	397	535	SUCCESS
OLA1	29789	.	GRCh37	2	175094100	175094100	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	278	135	363	2	ENST00000284719.3:c.181G>T	p.Glu61Ter	p.E61*	ENST00000284719	NM_013341.3	61	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2255.1	181	RADIA|SOMATICSNIPER|VARSCANS	.	GCTCTCATTAG	NONE	.	.	PROSITE_profiles:PS51710,HAMAP:MF_00944,hmmpanther:PTHR23305,Pfam_domain:PF01926,TIGRFAM_domain:TIGR00092,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006641,Superfamily_domains:SSF52540,Prints_domain:PR00326	.	.	ENSP00000284719	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000284719	Transcript	.	.	ENSG00000138430	28833	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OLA1_HUMAN	OLA1	HGNC	Q53SW9_HUMAN,Q53SQ6_HUMAN,C9JTK6_HUMAN,C9JCJ9_HUMAN	.	UPI00001328C1	SNV	OLA1,stop_gained,p.Glu61Ter,ENST00000428402,;OLA1,stop_gained,p.Glu61Ter,ENST00000284719,;OLA1,stop_gained,p.Glu61Ter,ENST00000427472,;OLA1,stop_gained,p.Glu81Ter,ENST00000409546,;OLA1,5_prime_UTR_variant,,ENST00000344357,;	428	365	413	SUCCESS
TTN	7273	.	GRCh37	2	179438250	179438250	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	30	107	0	ENST00000591111.1:c.67686T>A	p.Tyr22562Ter	p.Y22562*	ENST00000591111		22562	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS59435.1	72609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCATATTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Tyr15263Ter,ENST00000359218,;TTN,stop_gained,p.Tyr22562Ter,ENST00000591111,;TTN,stop_gained,p.Tyr24203Ter,ENST00000589042,;TTN,stop_gained,p.Tyr15330Ter,ENST00000342175,;TTN,stop_gained,p.Tyr21635Ter,ENST00000342992,;TTN,stop_gained,p.Tyr15138Ter,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	72834	107	141	SUCCESS
TTN	7273	.	GRCh37	2	179502130	179502130	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	55	0	ENST00000591111.1:c.35970G>T	p.Lys11990Asn	p.K11990N	ENST00000591111		11990	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS59435.1	40893	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCTTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	224/363	.	.	.	.	.	.	.	.	.	224/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys4691Asn,ENST00000359218,;TTN,missense_variant,p.Lys11990Asn,ENST00000591111,;TTN,missense_variant,p.Lys13631Asn,ENST00000589042,;TTN,missense_variant,p.Lys11063Asn,ENST00000342992,;TTN,missense_variant,p.Lys4758Asn,ENST00000342175,;TTN,missense_variant,p.Lys4566Asn,ENST00000460472,;TTN,intron_variant,,ENST00000414766,;TTN,downstream_gene_variant,,ENST00000426232,;TTN,downstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000418062,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;	41118	55	70	SUCCESS
NIF3L1	60491	.	GRCh37	2	201761875	201761875	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770827322	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	44	108	0	ENST00000409020.1:c.803G>C	p.Arg268Pro	p.R268P	ENST00000409020		268	cGa/cCa	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS46485.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCGAATAA	NONE	byFrequency	.	hmmpanther:PTHR13799:SF13,hmmpanther:PTHR13799,TIGRFAM_domain:TIGR00486,Gene3D:3.40.1390.30,Pfam_domain:PF01784,PIRSF_domain:PIRSF037490,Superfamily_domains:SSF102705	.	.	ENSP00000386394	.	5/7	.	.	.	.	.	.	.	.	rs770827322,COSM1404434,COSM1404433	5/7	PASS	ENST00000409020	Transcript	.	.	ENSG00000196290	13390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.984)	.	deleterious(0)	0,1,1	GTPC1_HUMAN	NIF3L1	HGNC	Q658J0_HUMAN,E7EXA3_HUMAN,C9JN42_HUMAN,B8ZZI0_HUMAN	.	UPI0000169B54	SNV	NIF3L1,missense_variant,p.Arg27Pro,ENST00000436412,;NIF3L1,missense_variant,p.Arg268Pro,ENST00000416651,;NIF3L1,missense_variant,p.Arg268Pro,ENST00000409020,;NIF3L1,missense_variant,p.Arg268Pro,ENST00000409357,;NIF3L1,missense_variant,p.Arg241Pro,ENST00000359683,;NIF3L1,intron_variant,,ENST00000409588,;NIF3L1,downstream_gene_variant,,ENST00000454952,;NIF3L1,downstream_gene_variant,,ENST00000426253,;NIF3L1,downstream_gene_variant,,ENST00000409129,;RNU6-762P,upstream_gene_variant,,ENST00000517107,;	1097	108	154	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209185030	209185030	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	472	37	453	1	ENST00000264380.4:c.2137T>G	p.Tyr713Asp	p.Y713D	ENST00000264380	NM_015040.3	713	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS2382.1	2137	MUTECT|MUSE|VARSCANS	.	TTGAGTATCTC	BUFFER|p.L714L|c.2142C>G|3	.	.	Superfamily_domains:SSF52029,Pfam_domain:PF00118,Gene3D:3.50.7.10,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	.	.	ENSP00000264380	.	17/42	.	.	.	.	.	.	.	.	.	17/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,missense_variant,p.Tyr657Asp,ENST00000452564,;PIKFYVE,missense_variant,p.Tyr713Asp,ENST00000264380,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	2295	454	509	SUCCESS
LANCL1	10314	.	GRCh37	2	211300146	211300146	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1233531518	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	40	111	0	ENST00000233714.4:c.1088G>A	p.Cys363Tyr	p.C363Y	ENST00000233714		363	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS2392.1	1088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCATCCA	NONE	.	.	hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF5,Pfam_domain:PF05147,Superfamily_domains:0053930	.	.	ENSP00000388713	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000443314	Transcript	.	.	ENSG00000115365	6508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	LANC1_HUMAN	LANCL1	HGNC	Q53TN2_HUMAN,E9PHS0_HUMAN	.	UPI0000073D7C	SNV	LANCL1,missense_variant,p.Cys363Tyr,ENST00000443314,;LANCL1,missense_variant,p.Cys363Tyr,ENST00000441020,;LANCL1,missense_variant,p.Cys363Tyr,ENST00000450366,;LANCL1,missense_variant,p.Cys363Tyr,ENST00000233714,;LANCL1,missense_variant,p.Cys363Tyr,ENST00000431941,;LANCL1,missense_variant,p.Cys122Tyr,ENST00000412863,;AC007970.1,intron_variant,,ENST00000420418,;AC007970.1,intron_variant,,ENST00000433296,;	1431	111	147	SUCCESS
TMBIM1	64114	.	GRCh37	2	219143250	219143250	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	58	110	0	ENST00000258412.3:c.461G>A	p.Cys154Tyr	p.C154Y	ENST00000258412	NM_022152.4	154	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS2412.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCAGCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23291:SF35,hmmpanther:PTHR23291,Pfam_domain:PF01027	.	.	ENSP00000409738	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000444881	Transcript	.	.	ENSG00000135926	23410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	LFG3_HUMAN	TMBIM1	HGNC	F8WDY4_HUMAN,C9JWV9_HUMAN,C9JW19_HUMAN,C9JN47_HUMAN,C9JM62_HUMAN,C9JI44_HUMAN,C9JEN3_HUMAN,C9JDV0_HUMAN,C9JAP5_HUMAN,C9JAK9_HUMAN,C9IZ27_HUMAN,C9IYT2_HUMAN,B4DNZ1_HUMAN,B3KSM0_HUMAN	.	UPI000007073C	SNV	TMBIM1,missense_variant,p.Cys154Tyr,ENST00000444881,;TMBIM1,missense_variant,p.Cys154Tyr,ENST00000396809,;TMBIM1,missense_variant,p.Cys154Tyr,ENST00000258412,;TMBIM1,missense_variant,p.Cys154Tyr,ENST00000429501,;TMBIM1,missense_variant,p.Cys154Tyr,ENST00000425694,;TMBIM1,5_prime_UTR_variant,,ENST00000445635,;PNKD,intron_variant,,ENST00000273077,;TMBIM1,downstream_gene_variant,,ENST00000451181,;TMBIM1,downstream_gene_variant,,ENST00000440422,;TMBIM1,downstream_gene_variant,,ENST00000434015,;TMBIM1,downstream_gene_variant,,ENST00000420341,;TMBIM1,downstream_gene_variant,,ENST00000453776,;TMBIM1,downstream_gene_variant,,ENST00000413976,;TMBIM1,downstream_gene_variant,,ENST00000453281,;TMBIM1,downstream_gene_variant,,ENST00000444000,;TMBIM1,downstream_gene_variant,,ENST00000444183,;TMBIM1,downstream_gene_variant,,ENST00000418569,;PNKD,intron_variant,,ENST00000472650,;TMBIM1,synonymous_variant,p.%3D,ENST00000437694,;TMBIM1,non_coding_transcript_exon_variant,,ENST00000476429,;TMBIM1,non_coding_transcript_exon_variant,,ENST00000492966,;TMBIM1,non_coding_transcript_exon_variant,,ENST00000495113,;TMBIM1,non_coding_transcript_exon_variant,,ENST00000466012,;TMBIM1,non_coding_transcript_exon_variant,,ENST00000465082,;TMBIM1,intron_variant,,ENST00000439306,;	1187	110	180	SUCCESS
DNMT3A	1788	.	GRCh37	2	25505281	25505281	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	96	0	ENST00000264709.3:c.448+29T>C		p.*150*	ENST00000264709	NM_175629.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33157.1	.	MUTECT|MUSE|VARSCANS	.	CCAGAAGAGGC	NONE	.	.	.	.	.	ENSP00000264709	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	MODIFIER	4/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,synonymous_variant,p.%3D,ENST00000406659,;DNMT3A,intron_variant,,ENST00000321117,;DNMT3A,intron_variant,,ENST00000264709,;DNMT3A,intron_variant,,ENST00000380756,;	.	96	75	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43924355	43924355	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746554709	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	96	0	ENST00000282406.4:c.548C>T	p.Ser183Leu	p.S183L	ENST00000282406	NM_172069.3	183	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS1812.1	548	MUTECT|MUSE	.	GCTTTCGGAAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3	.	.	ENSP00000282406	.	7/30	.	.	.	.	.	.	.	.	rs746554709,COSM1221160	7/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.001)	.	tolerated(0.3)	0,1	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Ser183Leu,ENST00000282406,;PLEKHH2,3_prime_UTR_variant,,ENST00000491692,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;PLEKHH2,downstream_gene_variant,,ENST00000460356,;	658	96	93	SUCCESS
ADD2	119	.	GRCh37	2	70910836	70910836	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781843008	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	60	217	0	ENST00000264436.4:c.1012C>T	p.Arg338Trp	p.R338W	ENST00000264436	NM_001617.3	338	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1906.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGTGCT	NONE	.	.	hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672	.	.	ENSP00000264436	.	10/16	.	.	.	.	.	.	.	.	rs781843008,COSM3659935,COSM3659934,COSM3659936	10/16	PASS	ENST00000264436	Transcript	.	.	ENSG00000075340	244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	0,1,1,1	ADDB_HUMAN	ADD2	HGNC	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN	.	UPI0000125503	SNV	ADD2,missense_variant,p.Arg338Trp,ENST00000413157,;ADD2,missense_variant,p.Arg338Trp,ENST00000264436,;ADD2,missense_variant,p.Arg354Trp,ENST00000430656,;ADD2,missense_variant,p.Arg338Trp,ENST00000407644,;ADD2,missense_variant,p.Arg338Trp,ENST00000355733,;ADD2,intron_variant,,ENST00000456320,;ADD2,intron_variant,,ENST00000522886,;AC007395.3,upstream_gene_variant,,ENST00000457851,;ADD2,missense_variant,p.Arg338Trp,ENST00000403045,;	1457	217	235	SUCCESS
DYSF	8291	.	GRCh37	2	71795093	71795093	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	32	118	0	ENST00000258104.3:c.2524A>T	p.Lys842Ter	p.K842*	ENST00000258104	NM_003494.3	842	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS46328.1	2578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGAAGGTG	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Pfam_domain:PF08150	.	.	ENSP00000386881	.	25/56	.	.	.	.	.	.	.	.	.	25/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,stop_gained,p.Lys859Ter,ENST00000409582,;DYSF,stop_gained,p.Lys860Ter,ENST00000410020,;DYSF,stop_gained,p.Lys829Ter,ENST00000409744,;DYSF,stop_gained,p.Lys842Ter,ENST00000429174,;DYSF,stop_gained,p.Lys859Ter,ENST00000409762,;DYSF,stop_gained,p.Lys860Ter,ENST00000410041,;DYSF,stop_gained,p.Lys874Ter,ENST00000409651,;DYSF,stop_gained,p.Lys843Ter,ENST00000394120,;DYSF,stop_gained,p.Lys843Ter,ENST00000409366,;DYSF,stop_gained,p.Lys873Ter,ENST00000413539,;DYSF,stop_gained,p.Lys842Ter,ENST00000258104,;DYSF,upstream_gene_variant,,ENST00000461565,;	2719	118	155	SUCCESS
SNRNP200	23020	.	GRCh37	2	96949333	96949333	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	63	0	ENST00000323853.5:c.4703A>C	p.Gln1568Pro	p.Q1568P	ENST00000323853	NM_014014.4	1568	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2020.1	4703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCTGCTTG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF55,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000317123	.	33/45	.	.	.	.	.	.	.	.	.	33/45	PASS	ENST00000323853	Transcript	.	.	ENSG00000144028	30859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	U520_HUMAN	SNRNP200	HGNC	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN	.	UPI0000207C53	SNV	SNRNP200,missense_variant,p.Gln1568Pro,ENST00000323853,;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,missense_variant,p.Gln95Pro,ENST00000429650,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000497539,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000480242,;SNRNP200,downstream_gene_variant,,ENST00000480615,;SNRNP200,upstream_gene_variant,,ENST00000484372,;SNRNP200,upstream_gene_variant,,ENST00000493271,;	4781	63	77	SUCCESS
SLC9C1	285335	.	GRCh37	3	111962868	111962868	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	93	264	0	ENST00000305815.5:c.1253T>G	p.Ile418Ser	p.I418S	ENST00000305815	NM_183061.1	418	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS33817.1	1253	RADIA|MUTECT|MUSE	.	GCAAAATAAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87	.	.	ENSP00000306627	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.609)	.	deleterious(0)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Ile370Ser,ENST00000487372,;SLC9C1,missense_variant,p.Ile418Ser,ENST00000305815,;SLC9C1,intron_variant,,ENST00000471295,;	1506	264	326	SUCCESS
PIK3R4	30849	.	GRCh37	3	130424491	130424491	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	133	0	ENST00000356763.3:c.2846A>T	p.Gln949Leu	p.Q949L	ENST00000356763	NM_014602.2	949	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3067.1	2846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTGGATG	NONE	.	.	hmmpanther:PTHR17583	.	.	ENSP00000349205	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000356763	Transcript	.	.	ENSG00000196455	8982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	tolerated(0.65)	.	PI3R4_HUMAN	PIK3R4	HGNC	D6RJ98_HUMAN,D6RBB7_HUMAN,D6RAC3_HUMAN	.	UPI0000071EF3	SNV	PIK3R4,missense_variant,p.Gln949Leu,ENST00000356763,;PIK3R4,downstream_gene_variant,,ENST00000508273,;	3404	133	161	SUCCESS
NEK11	79858	.	GRCh37	3	130893720	130893720	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	37	0	ENST00000383366.4:c.1399+3989T>A		p.*467*	ENST00000383366	NM_024800.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3069.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGTGGAGA	NONE	.	.	.	.	.	ENSP00000372857	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000383366	Transcript	.	.	ENSG00000114670	18593	.	.	MODIFIER	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK11_HUMAN	NEK11	HGNC	.	.	UPI000013F25D	SNV	NEK11,3_prime_UTR_variant,,ENST00000511262,;NEK11,intron_variant,,ENST00000383366,;NEK11,intron_variant,,ENST00000510769,;NEK11,intron_variant,,ENST00000508196,;NEK11,intron_variant,,ENST00000412440,;NEK11,intron_variant,,ENST00000510688,;NEK11,intron_variant,,ENST00000429253,;NEK11,intron_variant,,ENST00000356918,;NEK11,intron_variant,,ENST00000507910,;NEK11,intron_variant,,ENST00000514915,;NEK11,intron_variant,,ENST00000510823,;NEK11,intron_variant,,ENST00000510474,;	.	37	55	SUCCESS
MBNL1	4154	.	GRCh37	3	152132806	152132806	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	66	136	0	ENST00000282486.6:c.251G>A	p.Arg84His	p.R84H	ENST00000282486		84	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS3165.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACGCAATA	NONE	.	.	hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7	.	.	ENSP00000282486	.	3/10	.	.	.	.	.	.	.	.	COSM269556,COSM269557	3/10	PASS	ENST00000282486	Transcript	.	.	ENSG00000152601	6923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0.02)	1,1	MBNL1_HUMAN	MBNL1	HGNC	C9JCX1_HUMAN,C9J7P7_HUMAN	.	UPI000003B440	SNV	MBNL1,missense_variant,p.Arg84His,ENST00000545754,;MBNL1,missense_variant,p.Arg84His,ENST00000282486,;MBNL1,missense_variant,p.Arg84His,ENST00000485509,;MBNL1,missense_variant,p.Arg84His,ENST00000324196,;MBNL1,missense_variant,p.Arg28His,ENST00000459747,;MBNL1,missense_variant,p.Arg84His,ENST00000498502,;MBNL1,missense_variant,p.Arg27His,ENST00000493459,;MBNL1,missense_variant,p.Arg84His,ENST00000357472,;MBNL1,missense_variant,p.Arg84His,ENST00000463374,;MBNL1,missense_variant,p.Arg84His,ENST00000465907,;MBNL1,missense_variant,p.Arg84His,ENST00000282488,;MBNL1,missense_variant,p.Arg84His,ENST00000492948,;MBNL1,missense_variant,p.Arg84His,ENST00000324210,;MBNL1,missense_variant,p.Arg84His,ENST00000355460,;MBNL1,missense_variant,p.Arg84His,ENST00000485910,;MBNL1,missense_variant,p.Arg83His,ENST00000464596,;MBNL1,5_prime_UTR_variant,,ENST00000460591,;MBNL1,5_prime_UTR_variant,,ENST00000495875,;MBNL1,upstream_gene_variant,,ENST00000478535,;MBNL1,upstream_gene_variant,,ENST00000460166,;	2093	136	184	SUCCESS
SH3BP5	9467	.	GRCh37	3	15373984	15373984	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	10	0	ENST00000383791.3:c.-69A>T		p.*23*	ENST00000383791	NM_004844.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2625.2	.	MUTECT|MUSE	.	CAGGCTGGGCT	NONE	.	.	.	.	.	ENSP00000373301	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000383791	Transcript	.	.	ENSG00000131370	10827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	3BP5_HUMAN	SH3BP5	HGNC	Q6MZG3_HUMAN,C9JNW0_HUMAN,C9JK30_HUMAN,B2R7Y8_HUMAN	.	UPI00004C3DB7	SNV	SH3BP5,5_prime_UTR_variant,,ENST00000383791,;SH3BP5,5_prime_UTR_variant,,ENST00000253688,;SH3BP5,intron_variant,,ENST00000408919,;SH3BP5,intron_variant,,ENST00000426925,;SH3BP5,intron_variant,,ENST00000465894,;SH3BP5,upstream_gene_variant,,ENST00000459627,;SH3BP5,5_prime_UTR_variant,,ENST00000412806,;SH3BP5,upstream_gene_variant,,ENST00000450625,;	153	10	14	SUCCESS
ATP13A5	344905	.	GRCh37	3	193081052	193081052	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	37	110	0	ENST00000342358.4:c.357C>G	p.Asn119Lys	p.N119K	ENST00000342358	NM_198505.2	119	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS33914.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGTTTAT	NONE	.	.	Pfam_domain:PF12409,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093	.	.	ENSP00000341942	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	tolerated(0.1)	.	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,missense_variant,p.Asn119Lys,ENST00000342358,;ATP13A5,missense_variant,p.Asn141Lys,ENST00000446087,;	475	110	135	SUCCESS
TRANK1	9881	.	GRCh37	3	36898772	36898772	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	75	0	ENST00000429976.2:c.2309A>T	p.Gln770Leu	p.Q770L	ENST00000429976		770	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS46789.2	2309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTGATCA	NONE	.	.	hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	.	.	ENSP00000416168	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000429976	Transcript	.	.	ENSG00000168016	29011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.37)	.	TRNK1_HUMAN	TRANK1	HGNC	B7WP88_HUMAN	.	UPI00017BE82B	SNV	TRANK1,missense_variant,p.Gln220Leu,ENST00000428977,;TRANK1,missense_variant,p.Gln220Leu,ENST00000301807,;TRANK1,missense_variant,p.Gln770Leu,ENST00000429976,;TRANK1,downstream_gene_variant,,ENST00000513141,;	2557	75	90	SUCCESS
CACNA2D3	55799	.	GRCh37	3	54157508	54157508	+	intron_variant	Intron	SNP	T	T	A	rs781666182	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	26	89	0	ENST00000288197.5:c.123-32T>A		p.*41*	ENST00000288197				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54598.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTTACATA	NONE	.	.	.	.	.	ENSP00000419101	.	.	.	.	.	.	.	.	.	.	rs781666182	.	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	MODIFIER	1/37	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	SNV	CACNA2D3,5_prime_UTR_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000474759,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,5_prime_UTR_variant,,ENST00000477024,;CACNA2D3,5_prime_UTR_variant,,ENST00000471363,;	.	89	149	SUCCESS
APPL1	26060	.	GRCh37	3	57261773	57261773	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	16	0	ENST00000288266.3:c.-139C>A		p.*47*	ENST00000288266	NM_012096.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2882.1	.	MUTECT|MUSE	.	CGGCGCCTGGA	NONE	.	.	.	.	.	ENSP00000288266	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000288266	Transcript	.	.	ENSG00000157500	24035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DP13A_HUMAN	APPL1	HGNC	.	.	UPI00000712DA	SNV	APPL1,5_prime_UTR_variant,,ENST00000288266,;APPL1,upstream_gene_variant,,ENST00000495803,;APPL1,upstream_gene_variant,,ENST00000444459,;HESX1,upstream_gene_variant,,ENST00000495160,;APPL1,upstream_gene_variant,,ENST00000482800,;APPL1,upstream_gene_variant,,ENST00000468342,;	9	16	25	SUCCESS
CNTN3	5067	.	GRCh37	3	74385774	74385774	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139470091	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	81	247	0	ENST00000263665.6:c.1400C>T	p.Ala467Val	p.A467V	ENST00000263665	NM_020872.1	467	gCc/gTc	0	A:0.0007	A:0.0008	.	A:0	.	A	A/V	protein_coding	YES	CCDS33790.1	1400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGGCTATT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF54,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0	A:0	ENSP00000263665	A:0	11/22	.	.	.	.	.	.	.	.	rs139470091	11/22	PASS	ENST00000263665	Transcript	.	A:0.0002	ENSG00000113805	2173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	A:0	tolerated(0.54)	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	SNV	CNTN3,missense_variant,p.Ala467Val,ENST00000263665,;	1428	247	277	SUCCESS
COL25A1	84570	.	GRCh37	4	109765684	109765684	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	24	125	0	ENST00000399132.1:c.1620T>A	p.Pro540=	p.P540=	ENST00000399132	NM_198721.2	540	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43258.1	1620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCAGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF412,hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000382083	.	30/38	.	.	.	.	.	.	.	.	.	30/38	PASS	ENST00000399132	Transcript	1	.	ENSG00000188517	18603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPA1_HUMAN	COL25A1	HGNC	D6R8Y2_HUMAN	.	UPI0000225CD2	SNV	COL25A1,synonymous_variant,p.%3D,ENST00000399127,;COL25A1,synonymous_variant,p.%3D,ENST00000399132,;COL25A1,synonymous_variant,p.%3D,ENST00000399126,;COL25A1,missense_variant,p.Trp454Arg,ENST00000494183,;	2151	125	141	SUCCESS
ANK2	287	.	GRCh37	4	114158756	114158756	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	93	0	ENST00000357077.4:c.671T>C	p.Met224Thr	p.M224T	ENST00000357077	NM_001148.4	224	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS3702.1	671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGATGATGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123,Pfam_domain:PF13637,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000349588	.	7/46	.	.	.	.	.	.	.	.	.	7/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Met203Thr,ENST00000503271,;ANK2,missense_variant,p.Met224Thr,ENST00000264366,;ANK2,missense_variant,p.Met203Thr,ENST00000503423,;ANK2,missense_variant,p.Met224Thr,ENST00000394537,;ANK2,missense_variant,p.Met203Thr,ENST00000506722,;ANK2,missense_variant,p.Met224Thr,ENST00000357077,;ANK2,missense_variant,p.Met239Thr,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000515034,;ANK2,downstream_gene_variant,,ENST00000508613,;	724	93	94	SUCCESS
PROM1	8842	.	GRCh37	4	16025980	16025980	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	57	117	0	ENST00000447510.2:c.632A>T	p.Gln211Leu	p.Q211L	ENST00000447510	NM_006017.2	211	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS47029.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTTGCTGA	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3	.	.	ENSP00000426809	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000510224	Transcript	1	.	ENSG00000007062	9454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	deleterious(0)	.	PROM1_HUMAN	PROM1	HGNC	D6RIF3_HUMAN,D6RBI0_HUMAN	.	UPI000004ECD6	SNV	PROM1,missense_variant,p.Gln202Leu,ENST00000505450,;PROM1,missense_variant,p.Gln211Leu,ENST00000510224,;PROM1,missense_variant,p.Gln202Leu,ENST00000508167,;PROM1,missense_variant,p.Gln202Leu,ENST00000543373,;PROM1,missense_variant,p.Gln211Leu,ENST00000447510,;PROM1,missense_variant,p.Gln211Leu,ENST00000539194,;PROM1,missense_variant,p.Gln211Leu,ENST00000540805,;PROM1,splice_region_variant,,ENST00000502943,;PROM1,splice_region_variant,,ENST00000511153,;	881	117	144	SUCCESS
FSTL5	56884	.	GRCh37	4	162680644	162680644	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1410022683	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	363	95	468	0	ENST00000306100.5:c.646T>C	p.Cys216Arg	p.C216R	ENST00000306100	NM_001128427.2	216	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS3802.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACAATCAA	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Cys215Arg,ENST00000379164,;FSTL5,missense_variant,p.Cys215Arg,ENST00000536695,;FSTL5,missense_variant,p.Cys215Arg,ENST00000427802,;FSTL5,missense_variant,p.Cys216Arg,ENST00000306100,;	1083	468	459	SUCCESS
CLCN3	1182	.	GRCh37	4	170613454	170613454	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1236240878	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	43	222	0	ENST00000513761.1:c.919G>A	p.Glu307Lys	p.E307K	ENST00000513761	NM_001829.3	307	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34100.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACGAAGCT	BUFFER|p.R311fs*14|c.925delA|5	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Pfam_domain:PF00654,Gene3D:1otsB00,Superfamily_domains:SSF81340	.	.	ENSP00000261514	.	7/14	.	.	.	.	.	.	.	.	COSM3428331	7/14	PASS	ENST00000347613	Transcript	.	.	ENSG00000109572	2021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.36)	.	deleterious(0.01)	1	CLCN3_HUMAN	CLCN3	HGNC	D6RIX3_HUMAN,D6RDZ6_HUMAN	.	UPI000015F952	SNV	CLCN3,missense_variant,p.Glu307Lys,ENST00000513761,;CLCN3,missense_variant,p.Glu307Lys,ENST00000360642,;CLCN3,missense_variant,p.Glu290Lys,ENST00000504131,;CLCN3,missense_variant,p.Glu307Lys,ENST00000347613,;CLCN3,missense_variant,p.Glu280Lys,ENST00000507875,;CLCN3,upstream_gene_variant,,ENST00000515420,;CLCN3,downstream_gene_variant,,ENST00000511092,;CLCN3,downstream_gene_variant,,ENST00000512813,;	1473	222	177	SUCCESS
TENM3	55714	.	GRCh37	4	183717845	183717845	+	synonymous_variant	Silent	SNP	A	A	T	rs76754407	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	90	0	ENST00000511685.1:c.7269A>T	p.Gly2423=	p.G2423=	ENST00000511685		2423	ggA/ggT	0	T:0.001	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS47165.1	7269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGATTCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	T:0.005	T:0	ENSP00000424226	T:0	27/28	.	.	.	.	.	.	.	.	rs76754407	27/28	common_in_exac	ENST00000511685	Transcript	1	T:0.0010	ENSG00000218336	29944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,synonymous_variant,p.%3D,ENST00000511685,;TENM3,synonymous_variant,p.%3D,ENST00000406950,;	7392	90	82	SUCCESS
SLC34A2	10568	.	GRCh37	4	25667799	25667799	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	50	0	ENST00000382051.3:c.429T>A	p.Pro143=	p.P143=	ENST00000382051	NM_006424.2	143	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3435.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTTTGTT	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23	.	.	ENSP00000371483	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000382051	Transcript	1	.	ENSG00000157765	11020	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT2B_HUMAN	SLC34A2	HGNC	D6RBC0_HUMAN	.	UPI000013DF24	SNV	SLC34A2,synonymous_variant,p.%3D,ENST00000507530,;SLC34A2,synonymous_variant,p.%3D,ENST00000503434,;SLC34A2,synonymous_variant,p.%3D,ENST00000513204,;SLC34A2,synonymous_variant,p.%3D,ENST00000382051,;SLC34A2,synonymous_variant,p.%3D,ENST00000504570,;SLC34A2,non_coding_transcript_exon_variant,,ENST00000510033,;	479	50	66	SUCCESS
SEL1L3	23231	.	GRCh37	4	25819867	25819867	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749812534	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	33	121	0	ENST00000399878.3:c.1457G>A	p.Arg486His	p.R486H	ENST00000399878	NM_015187.3	486	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS47037.1	1457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCGCTGG	NONE	byFrequency	.	hmmpanther:PTHR11102:SF58,hmmpanther:PTHR11102	.	.	ENSP00000382767	.	9/24	.	.	.	.	.	.	.	.	rs749812534	9/24	PASS	ENST00000399878	Transcript	.	.	ENSG00000091490	29108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.52)	.	SE1L3_HUMAN	SEL1L3	HGNC	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN	.	UPI00001D7736	SNV	SEL1L3,missense_variant,p.Arg486His,ENST00000399878,;SEL1L3,missense_variant,p.Arg333His,ENST00000502949,;SEL1L3,missense_variant,p.Arg451His,ENST00000264868,;	1580	121	142	SUCCESS
CWH43	80157	.	GRCh37	4	48996766	48996766	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	45	145	0	ENST00000226432.4:c.642A>G	p.Gly214=	p.G214=	ENST00000226432	NM_025087.2	214	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS3486.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGAGAAGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14859:SF0,hmmpanther:PTHR14859	.	.	ENSP00000226432	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000226432	Transcript	.	.	ENSG00000109182	26133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PG2IP_HUMAN	CWH43	HGNC	E7EQL2_HUMAN,D6RDZ8_HUMAN	.	UPI000020BC89	SNV	CWH43,synonymous_variant,p.%3D,ENST00000513409,;CWH43,synonymous_variant,p.%3D,ENST00000226432,;CWH43,synonymous_variant,p.%3D,ENST00000514053,;	825	145	205	SUCCESS
RUFY3	22902	.	GRCh37	4	71655272	71655272	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	47	207	0	ENST00000226328.4:c.1300A>T	p.Asn434Tyr	p.N434Y	ENST00000226328	NM_014961.3	434	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS34001.1	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAATCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF37	.	.	ENSP00000370394	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000381006	Transcript	.	.	ENSG00000018189	30285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.04)	.	RUFY3_HUMAN	RUFY3	HGNC	D6REM9_HUMAN,D6RCQ1_HUMAN	.	UPI00005FB126	SNV	RUFY3,missense_variant,p.Asn494Tyr,ENST00000417478,;RUFY3,missense_variant,p.Asn381Tyr,ENST00000502653,;RUFY3,missense_variant,p.Asn418Tyr,ENST00000536664,;RUFY3,missense_variant,p.Asn434Tyr,ENST00000226328,;RUFY3,missense_variant,p.Asn434Tyr,ENST00000381006,;RUFY3,upstream_gene_variant,,ENST00000507333,;RUFY3,missense_variant,p.Asn82Tyr,ENST00000504805,;RUFY3,missense_variant,p.Asn33Tyr,ENST00000512103,;	1879	207	237	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128887588	128887588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	106	0	ENST00000274487.4:c.1342T>C	p.Cys448Arg	p.C448R	ENST00000274487	NM_133638.3	448	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS4146.1	1342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCATGTGAT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000274487	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Cys448Arg,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1487	106	87	SUCCESS
CDC23	8697	.	GRCh37	5	137527198	137527198	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	61	107	0	ENST00000394886.2:c.1389A>G	p.Gly463=	p.G463=	ENST00000394886	NM_004661.3	463	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS4200.2	1389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTCCCAC	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF10,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000378350	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000394886	Transcript	.	.	ENSG00000094880	1724	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDC23_HUMAN	CDC23	HGNC	.	.	UPI000020C69D	SNV	CDC23,synonymous_variant,p.%3D,ENST00000394886,;KIF20A,downstream_gene_variant,,ENST00000394894,;KIF20A,downstream_gene_variant,,ENST00000508792,;CDC23,non_coding_transcript_exon_variant,,ENST00000471692,;CDC23,upstream_gene_variant,,ENST00000464806,;KIF20A,downstream_gene_variant,,ENST00000502338,;CDC23,upstream_gene_variant,,ENST00000475021,;	1420	107	126	SUCCESS
PCDHB8	56128	.	GRCh37	5	140559603	140559603	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	35	67	0	ENST00000239444.2:c.1988T>A	p.Leu663Gln	p.L663Q	ENST00000239444	NM_019120.3	663	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4250.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF89,hmmpanther:PTHR24028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0)	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,missense_variant,p.Leu663Gln,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	2233	67	68	SUCCESS
PCDHGA12	26025	.	GRCh37	5	140810730	140810730	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	112	142	0	ENST00000252085.3:c.404A>T	p.Glu135Val	p.E135V	ENST00000252085	NM_003735.2	135	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4260.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGAAAGTG	BUFFER|p.R134C|c.400C>T|3,BUFFER|p.R134C|c.400C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000252085	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252085	Transcript	.	.	ENSG00000253159	8699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.35)	.	PCDGC_HUMAN	PCDHGA12	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073EA1	SNV	PCDHGA12,missense_variant,p.Glu135Val,ENST00000252085,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	546	142	206	SUCCESS
SLC26A2	1836	.	GRCh37	5	149360924	149360924	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	46	63	0	ENST00000286298.4:c.1768A>T	p.Ile590Leu	p.I590L	ENST00000286298	NM_000112.3	590	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS4300.1	1768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACATAAAC	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,TIGRFAM_domain:TIGR00815,Pfam_domain:PF01740,Gene3D:3.30.750.24,Superfamily_domains:SSF52091	.	.	ENSP00000286298	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000286298	Transcript	1	.	ENSG00000155850	10994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0.02)	.	S26A2_HUMAN	SLC26A2	HGNC	H0YA38_HUMAN,C9JAN6_HUMAN	.	UPI000013DE3D	SNV	SLC26A2,missense_variant,p.Ile590Leu,ENST00000286298,;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;	2036	63	89	SUCCESS
CNOT8	9337	.	GRCh37	5	154242880	154242880	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1159366875	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	10	130	0	ENST00000285896.6:c.42A>C	p.Glu14Asp	p.E14D	ENST00000285896		14	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS4329.1	42	MUTECT|MUSE	.	TGTGAAGTGTG	NONE	.	.	Superfamily_domains:SSF53098,Gene3D:3.30.420.10,Pfam_domain:PF04857,hmmpanther:PTHR10797,hmmpanther:PTHR10797:SF1	.	.	ENSP00000430493	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000517876	Transcript	.	.	ENSG00000155508	9207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.65)	.	CNOT8_HUMAN	CNOT8	HGNC	E5RK92_HUMAN,E5RJC5_HUMAN,E5RIU0_HUMAN,E5RHG0_HUMAN,E5RGE4_HUMAN,E5RFJ4_HUMAN,B7Z9U0_HUMAN,B7Z5Z0_HUMAN,B0AZS3_HUMAN	.	UPI0000000E08	SNV	CNOT8,missense_variant,p.Glu14Asp,ENST00000519404,;CNOT8,missense_variant,p.Glu14Asp,ENST00000285896,;CNOT8,missense_variant,p.Glu14Asp,ENST00000519211,;CNOT8,missense_variant,p.Glu14Asp,ENST00000519394,;CNOT8,missense_variant,p.Glu14Asp,ENST00000520472,;CNOT8,missense_variant,p.Glu14Asp,ENST00000517568,;CNOT8,missense_variant,p.Glu14Asp,ENST00000517876,;CNOT8,missense_variant,p.Glu14Asp,ENST00000522458,;CNOT8,missense_variant,p.Glu14Asp,ENST00000518028,;CNOT8,missense_variant,p.Glu14Asp,ENST00000519430,;CNOT8,missense_variant,p.Glu14Asp,ENST00000403027,;CNOT8,missense_variant,p.Glu14Asp,ENST00000518775,;CNOT8,intron_variant,,ENST00000524105,;CNOT8,intron_variant,,ENST00000521583,;CNOT8,intron_variant,,ENST00000520671,;CNOT8,intron_variant,,ENST00000521450,;CNOT8,intron_variant,,ENST00000519903,;CNOT8,intron_variant,,ENST00000523698,;FAXDC2,upstream_gene_variant,,ENST00000520968,;CNOT8,non_coding_transcript_exon_variant,,ENST00000521402,;CNOT8,downstream_gene_variant,,ENST00000523270,;CNOT8,downstream_gene_variant,,ENST00000518782,;CNOT8,downstream_gene_variant,,ENST00000521174,;CNOT8,missense_variant,p.Glu14Asp,ENST00000522644,;CNOT8,missense_variant,p.Glu14Asp,ENST00000521729,;	518	130	171	SUCCESS
SGCD	6444	.	GRCh37	5	156184773	156184773	+	intron_variant	Intron	SNP	C	C	A	rs760611730	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	366	39	342	0	ENST00000435422.3:c.696+58C>A		p.*232*	ENST00000435422	NM_001128209.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47325.1	.	MUTECT|MUSE|VARSCANS	.	CCCTTCCCATA	NONE	.	.	.	.	.	ENSP00000338343	.	.	.	.	.	.	.	.	.	.	rs760611730	.	PASS	ENST00000337851	Transcript	1	.	ENSG00000170624	10807	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SGCD_HUMAN	SGCD	HGNC	.	.	UPI00001678CF	SNV	SGCD,missense_variant,p.Pro253Thr,ENST00000447401,;SGCD,missense_variant,p.Pro253Thr,ENST00000517913,;SGCD,intron_variant,,ENST00000435422,;SGCD,intron_variant,,ENST00000337851,;	.	342	406	SUCCESS
SOX30	11063	.	GRCh37	5	157065283	157065283	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	261	36	197	0	ENST00000265007.6:c.1835T>C	p.Phe612Ser	p.F612S	ENST00000265007	NM_178424.1	612	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS4339.1	1835	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAAAAGAG	NONE	.	.	hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	.	.	ENSP00000265007	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000265007	Transcript	.	.	ENSG00000039600	30635	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	SOX30_HUMAN	SOX30	HGNC	.	.	UPI00001362BA	SNV	SOX30,missense_variant,p.Phe612Ser,ENST00000265007,;SOX30,missense_variant,p.Phe307Ser,ENST00000519442,;SOX30,intron_variant,,ENST00000311371,;	2177	197	298	SUCCESS
FAM134B	0	.	GRCh37	5	16617067	16617067	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	72	164	0	ENST00000306320.9:c.14C>A	p.Ala5Glu	p.A5E	ENST00000306320	NM_001034850.2	5	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS43304.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGCCGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000304642	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000306320	Transcript	1	.	ENSG00000154153	25964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	F134B_HUMAN	FAM134B	HGNC	.	.	UPI000006D7DB	SNV	FAM134B,missense_variant,p.Ala5Glu,ENST00000306320,;CTC-461F20.1,upstream_gene_variant,,ENST00000504935,;RP11-260E18.1,intron_variant,,ENST00000499131,;FAM134B,non_coding_transcript_exon_variant,,ENST00000509048,;	101	164	276	SUCCESS
OXCT1	5019	.	GRCh37	5	41870381	41870381	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	65	0	ENST00000196371.5:c.78+2T>C		p.X26_splice	ENST00000196371	NM_000436.3	26		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3937.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTACCTTG	NONE	.	.	.	.	.	ENSP00000196371	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000196371	Transcript	1	.	ENSG00000083720	8527	.	.	HIGH	1/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCOT1_HUMAN	OXCT1	HGNC	B7Z528_HUMAN,A1E286_HUMAN	.	UPI0000000C9A	SNV	OXCT1,splice_donor_variant,,ENST00000196371,;OXCT1-AS1,intron_variant,,ENST00000508458,;OXCT1-AS1,intron_variant,,ENST00000510509,;	.	65	89	SUCCESS
ITGA2	3673	.	GRCh37	5	52371063	52371063	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	39	143	0	ENST00000296585.5:c.2754A>G	p.Glu918=	p.E918=	ENST00000296585	NM_002203.3	918	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS3957.1	2754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAAGAAAA	NONE	.	.	Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23	.	.	ENSP00000296585	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,synonymous_variant,p.%3D,ENST00000296585,;ITGA2,synonymous_variant,p.%3D,ENST00000510722,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000509814,;	2897	143	190	SUCCESS
MAST4	375449	.	GRCh37	5	66391425	66391425	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	86	0	ENST00000403625.2:c.834G>T	p.Arg278Ser	p.R278S	ENST00000403625	NM_001164664.1	278	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS54861.1	834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGGACTGA	NONE	.	.	Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139	.	.	ENSP00000385727	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Arg89Ser,ENST00000403666,;MAST4,missense_variant,p.Arg281Ser,ENST00000404260,;MAST4,missense_variant,p.Arg84Ser,ENST00000261569,;MAST4,missense_variant,p.Arg89Ser,ENST00000490016,;MAST4,missense_variant,p.Arg99Ser,ENST00000405643,;MAST4,missense_variant,p.Arg84Ser,ENST00000436277,;MAST4,missense_variant,p.Arg278Ser,ENST00000403625,;MAST4,missense_variant,p.Arg84Ser,ENST00000447738,;	1129	86	114	SUCCESS
NAIP	4671	.	GRCh37	5	70308629	70308629	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	26	139	0	ENST00000194097.4:c.114A>T	p.Leu38=	p.L38=	ENST00000194097		38	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4009.1	114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTAGTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF94	.	.	ENSP00000428657	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000517649	Transcript	1	.	ENSG00000249437	7634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC1_HUMAN	NAIP	HGNC	B4DHI2_HUMAN	.	UPI000013C609	SNV	NAIP,synonymous_variant,p.%3D,ENST00000508426,;NAIP,synonymous_variant,p.%3D,ENST00000517649,;NAIP,synonymous_variant,p.%3D,ENST00000194097,;NAIP,intron_variant,,ENST00000503719,;NAIP,intron_variant,,ENST00000523981,;NAIP,synonymous_variant,p.%3D,ENST00000519014,;NAIP,intron_variant,,ENST00000508794,;NAIP,upstream_gene_variant,,ENST00000447012,;	405	139	164	SUCCESS
ADCY2	108	.	GRCh37	5	7520950	7520950	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	66	0	ENST00000338316.4:c.508A>G	p.Thr170Ala	p.T170A	ENST00000338316	NM_020546.2	170	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3872.2	508	RADIA|MUTECT|MUSE|VARSCANS	.	CCCACACCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.08)	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Thr170Ala,ENST00000338316,;ADCY2,non_coding_transcript_exon_variant,,ENST00000484965,;ADCY2,non_coding_transcript_exon_variant,,ENST00000498598,;	597	66	104	SUCCESS
SPATA9	83890	.	GRCh37	5	94994511	94994511	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1338226705	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	34	62	0	ENST00000274432.8:c.581C>T	p.Ser194Phe	p.S194F	ENST00000274432	NM_031952.3	194	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS4076.1	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGAAAAG	NONE	.	.	.	.	.	ENSP00000274432	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000274432	Transcript	.	.	ENSG00000145757	22988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious_low_confidence(0)	.	SPAT9_HUMAN	SPATA9	HGNC	.	.	UPI000000DBD8	SNV	SPATA9,missense_variant,p.Ser194Phe,ENST00000274432,;RFESD,downstream_gene_variant,,ENST00000513950,;RFESD,downstream_gene_variant,,ENST00000458310,;RFESD,downstream_gene_variant,,ENST00000311364,;RFESD,downstream_gene_variant,,ENST00000380005,;RFESD,downstream_gene_variant,,ENST00000511684,;SPATA9,non_coding_transcript_exon_variant,,ENST00000477047,;SPATA9,non_coding_transcript_exon_variant,,ENST00000379990,;RFESD,intron_variant,,ENST00000508206,;SPATA9,missense_variant,p.Ser194Phe,ENST00000316087,;SPATA9,missense_variant,p.Ser118Phe,ENST00000477715,;SPATA9,3_prime_UTR_variant,,ENST00000489917,;	723	62	107	SUCCESS
ROS1	6098	.	GRCh37	6	117609803	117609803	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	64	104	0	ENST00000368508.3:c.6896C>G	p.Ser2299Cys	p.S2299C	ENST00000368508	NM_002944.2	2299	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS5116.1	6896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGATTCA	NONE	.	.	hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416	.	.	ENSP00000357494	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	deleterious_low_confidence(0)	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,missense_variant,p.Ser2293Cys,ENST00000368507,;ROS1,missense_variant,p.Ser2299Cys,ENST00000368508,;	7095	104	163	SUCCESS
ENPP3	5169	.	GRCh37	6	131958470	131958470	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	47	196	0	ENST00000357639.3:c.-55A>G		p.*19*	ENST00000357639	NM_005021.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5148.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAAAGAA	NONE	.	.	.	.	.	ENSP00000406261	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000414305	Transcript	.	.	ENSG00000154269	3358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENPP3_HUMAN	ENPP3	HGNC	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN	.	UPI000013DD9F	SNV	ENPP3,5_prime_UTR_variant,,ENST00000427148,;ENPP3,5_prime_UTR_variant,,ENST00000357639,;ENPP3,5_prime_UTR_variant,,ENST00000543135,;ENPP3,5_prime_UTR_variant,,ENST00000414305,;ENPP3,upstream_gene_variant,,ENST00000358229,;ENPP3,upstream_gene_variant,,ENST00000470930,;ENPP3,5_prime_UTR_variant,,ENST00000427707,;ENPP3,5_prime_UTR_variant,,ENST00000423831,;	274	196	223	SUCCESS
TAAR9	134860	.	GRCh37	6	132859536	132859536	+	synonymous_variant	Silent	SNP	C	C	T	rs1554255087	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	22	130	0	ENST00000434551.1:c.108C>T	p.Tyr36=	p.Y36=	ENST00000434551	NM_175057.3	36	taC/taT	0	.	.	.	.	.	T	Y	polymorphic_pseudogene	YES	.	108	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTACGCCGT	NONE	.	.	.	.	.	ENSP00000424607	.	1/1	.	.	.	.	.	.	.	.	COSM204231	1/1	PASS	ENST00000434551	Transcript	.	.	ENSG00000237110	20977	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	.	TAAR9	HGNC	.	.	.	SNV	TAAR9,synonymous_variant,p.%3D,ENST00000434551,;	108	130	159	SUCCESS
ARID1B	57492	.	GRCh37	6	157505501	157505501	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	44	172	0	ENST00000346085.5:c.3482A>T	p.Glu1161Val	p.E1161V	ENST00000346085	NM_020732.3	1161	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS55072.1	3482	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGCCCC	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:1.10.150.60,Superfamily_domains:SSF46774	.	.	ENSP00000344546	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Glu623Val,ENST00000319584,;ARID1B,missense_variant,p.Glu1201Val,ENST00000367148,;ARID1B,missense_variant,p.Glu215Val,ENST00000400790,;ARID1B,missense_variant,p.Glu1161Val,ENST00000346085,;ARID1B,missense_variant,p.Glu1148Val,ENST00000350026,;ARID1B,missense_variant,p.Glu670Val,ENST00000414678,;ARID1B,missense_variant,p.Glu1143Val,ENST00000275248,;ARID1B,downstream_gene_variant,,ENST00000478761,;	3483	172	229	SUCCESS
FRMD1	79981	.	GRCh37	6	168465694	168465694	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765036020	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	30	0	ENST00000283309.6:c.505C>T	p.Arg169Cys	p.R169C	ENST00000283309	NM_024919.3	169	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5306.1	505	RADIA|MUTECT|MUSE|VARSCANS	.	CACGCGCTCCT	NONE	byFrequency	.	PROSITE_profiles:PS50057,hmmpanther:PTHR13429,hmmpanther:PTHR13429:SF4,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000283309	.	5/11	.	.	.	.	.	.	.	.	rs765036020	5/11	PASS	ENST00000283309	Transcript	.	.	ENSG00000153303	21240	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	FRMD1_HUMAN	FRMD1	HGNC	F5GXR0_HUMAN	.	UPI000013F36A	SNV	FRMD1,missense_variant,p.Arg101Cys,ENST00000440994,;FRMD1,missense_variant,p.Arg169Cys,ENST00000283309,;FRMD1,5_prime_UTR_variant,,ENST00000537786,;FRMD1,downstream_gene_variant,,ENST00000511714,;FRMD1,non_coding_transcript_exon_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,non_coding_transcript_exon_variant,,ENST00000506415,;FRMD1,non_coding_transcript_exon_variant,,ENST00000336070,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,;	570	30	51	SUCCESS
ZNF391	346157	.	GRCh37	6	27368626	27368626	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	78	160	0	ENST00000244576.4:c.477C>T	p.His159=	p.H159=	ENST00000244576	NM_001076781.1	159	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS43429.1	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACACTGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000244576	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000244576	Transcript	.	.	ENSG00000124613	18779	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN391_HUMAN	ZNF391	HGNC	C9JUF8_HUMAN	.	UPI00001D81D5	SNV	ZNF391,synonymous_variant,p.%3D,ENST00000244576,;ZNF391,downstream_gene_variant,,ENST00000461521,;RP1-153G14.4,downstream_gene_variant,,ENST00000607727,;ZNF391,downstream_gene_variant,,ENST00000477999,;	1022	160	195	SUCCESS
TRIM39-RPP21	202658	.	GRCh37	6	30314488	30314488	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	48	103	0	ENST00000513556.1:c.1151-2A>T		p.X384_splice	ENST00000513556	NM_001199119.1	384		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56409.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCAGATTC	NONE	.	.	.	.	.	ENSP00000409799	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000433076	Transcript	.	.	ENSG00000241370	21300	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPP21_HUMAN	RPP21	HGNC	.	.	UPI0000470276	SNV	RPP21,splice_acceptor_variant,,ENST00000436442,;TRIM39-RPP21,splice_acceptor_variant,,ENST00000513556,;RPP21,splice_acceptor_variant,,ENST00000433076,;RPP21,splice_acceptor_variant,,ENST00000442966,;RPP21,splice_acceptor_variant,,ENST00000428040,;TRIM39,downstream_gene_variant,,ENST00000396547,;TRIM39,downstream_gene_variant,,ENST00000376656,;TRIM39,downstream_gene_variant,,ENST00000376659,;TRIM39,downstream_gene_variant,,ENST00000540416,;TRIM39,downstream_gene_variant,,ENST00000396551,;TRIM39,downstream_gene_variant,,ENST00000396548,;RPP21,splice_acceptor_variant,,ENST00000489124,;RPP21,splice_acceptor_variant,,ENST00000491477,;RPP21,downstream_gene_variant,,ENST00000466327,;RPP21,splice_acceptor_variant,,ENST00000473266,;RPP21,splice_acceptor_variant,,ENST00000498414,;HLA-N,upstream_gene_variant,,ENST00000437516,;	.	103	127	SUCCESS
NOTCH4	4855	.	GRCh37	6	32180406	32180406	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	19	105	0	ENST00000375023.3:c.2527-2A>T		p.X843_splice	ENST00000375023	NM_004557.3	843		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34420.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCTGAGGG	NONE	.	.	.	.	.	ENSP00000364163	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	HIGH	16/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,splice_acceptor_variant,,ENST00000375023,;NOTCH4,splice_acceptor_variant,,ENST00000465528,;NOTCH4,downstream_gene_variant,,ENST00000473562,;	.	105	120	SUCCESS
C6orf10	0	.	GRCh37	6	32261572	32261572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	45	115	1	ENST00000447241.2:c.878A>T	p.Lys293Met	p.K293M	ENST00000447241	NM_006781.3	293	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS34422.1	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCTTGACC	NONE	.	.	hmmpanther:PTHR14368,hmmpanther:PTHR14368:SF6	.	.	ENSP00000415517	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000447241	Transcript	.	.	ENSG00000204296	13922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CF010_HUMAN	C6orf10	HGNC	.	.	UPI0000470279	SNV	C6orf10,missense_variant,p.Lys277Met,ENST00000527965,;C6orf10,missense_variant,p.Lys291Met,ENST00000375007,;C6orf10,missense_variant,p.Lys291Met,ENST00000533191,;C6orf10,missense_variant,p.Lys293Met,ENST00000447241,;C6orf10,missense_variant,p.Lys292Met,ENST00000375015,;C6orf10,missense_variant,p.Lys284Met,ENST00000442822,;	1051	116	136	SUCCESS
COL11A2	1302	.	GRCh37	6	33133539	33133539	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199615717	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	35	1	ENST00000374708.4:c.4279C>T	p.Arg1427Trp	p.R1427W	ENST00000374708	NM_080681.2	1427	Cgg/Tgg	0	.	A:0	.	A:0.0014	.	A	R/W	protein_coding	YES	CCDS43452.1	4279	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGAGTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	A:0	.	ENSP00000363840	A:0	61/64	.	.	.	.	.	.	.	.	rs199615717,COSM1284213	61/64	PASS	ENST00000374708	Transcript	.	A:0.0002	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	unknown(0)	A:0	.	0,1	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.Arg1453Trp,ENST00000395197,;COL11A2,missense_variant,p.Arg1466Trp,ENST00000374713,;COL11A2,missense_variant,p.Arg1406Trp,ENST00000361917,;COL11A2,missense_variant,p.Arg1492Trp,ENST00000357486,;COL11A2,missense_variant,p.Arg1432Trp,ENST00000374712,;COL11A2,missense_variant,p.Arg1427Trp,ENST00000374708,;COL11A2,missense_variant,p.Arg1513Trp,ENST00000341947,;COL11A2,missense_variant,p.Arg1487Trp,ENST00000374714,;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	4538	36	46	SUCCESS
C6orf141	135398	.	GRCh37	6	49518524	49518524	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	58	188	0	ENST00000371194.3:c.19A>T	p.Arg7Trp	p.R7W	ENST00000371194		7	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS55018.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCAGGATG	NONE	.	.	.	.	.	ENSP00000434602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529246	Transcript	.	.	ENSG00000197261	21351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0.03)	.	CF141_HUMAN	C6orf141	HGNC	.	.	UPI000013E9DC	SNV	C6orf141,missense_variant,p.Arg7Trp,ENST00000529246,;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Arg7Trp,ENST00000414696,;C6orf141,missense_variant,p.Arg7Trp,ENST00000371194,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000530382,;C6orf141,upstream_gene_variant,,ENST00000526429,;	412	188	253	SUCCESS
GJB7	375519	.	GRCh37	6	87994409	87994409	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	51	138	0	ENST00000296882.3:c.222C>T	p.Val74=	p.V74=	ENST00000296882		74	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5008.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGACTTG	NONE	.	.	SMART_domains:SM00037,Gene3D:2zw3A00,Pfam_domain:PF00029,hmmpanther:PTHR11984:SF26,hmmpanther:PTHR11984	.	.	ENSP00000435355	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000525899	Transcript	.	.	ENSG00000164411	16690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB7_HUMAN	GJB7	HGNC	J3KP93_HUMAN	.	UPI000013E3A1	SNV	GJB7,synonymous_variant,p.%3D,ENST00000369576,;GJB7,synonymous_variant,p.%3D,ENST00000296882,;GJB7,synonymous_variant,p.%3D,ENST00000525899,;	568	138	192	SUCCESS
PLXNA4	91584	.	GRCh37	7	131872243	131872243	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	60	0	ENST00000321063.4:c.2980T>A	p.Cys994Ser	p.C994S	ENST00000321063	NM_020911.1	994	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS43646.1	2980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACAGGGCT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000352882	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	deleterious(0.03)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Cys994Ser,ENST00000321063,;PLXNA4,missense_variant,p.Cys994Ser,ENST00000359827,;	3943	60	62	SUCCESS
PDIA4	9601	.	GRCh37	7	148709035	148709035	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	59	0	ENST00000286091.4:c.882G>T	p.Lys294Asn	p.K294N	ENST00000286091	NM_004911.4	294	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5893.1	882	MUTECT|MUSE|VARSCANS	.	ACCTGCTTCAG	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929:SF56,hmmpanther:PTHR18929,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,PIRSF_domain:PIRSF036862,Superfamily_domains:SSF52833	.	.	ENSP00000286091	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000286091	Transcript	.	.	ENSG00000155660	30167	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	PDIA4_HUMAN	PDIA4	HGNC	.	.	UPI000004062C	SNV	PDIA4,missense_variant,p.Lys294Asn,ENST00000286091,;	1115	59	66	SUCCESS
NOS3	4846	.	GRCh37	7	150698381	150698381	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145811781	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	42	0	ENST00000297494.3:c.1296G>T	p.Glu432Asp	p.E432D	ENST00000297494	NM_000603.4	432	gaG/gaT	0	T:0	.	.	.	.	T	E/D	protein_coding	YES	CCDS5912.1	1296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGAATGA	NONE	byCluster	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	.	T:0.0001	ENSP00000297494	.	11/27	.	.	.	.	.	.	.	.	rs145811781	11/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.08)	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,missense_variant,p.Glu432Asp,ENST00000467517,;NOS3,missense_variant,p.Glu432Asp,ENST00000484524,;NOS3,missense_variant,p.Glu226Asp,ENST00000461406,;NOS3,missense_variant,p.Glu432Asp,ENST00000297494,;NOS3,upstream_gene_variant,,ENST00000460603,;	1653	42	45	SUCCESS
INSIG1	3638	.	GRCh37	7	155094075	155094075	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1398230061	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	101	0	ENST00000340368.4:c.652G>A	p.Ala218Thr	p.A218T	ENST00000340368	NM_005542.4	218	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5938.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATAGCTTTT	BUFFER|p.L220V|c.658C>G|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15301:SF11,hmmpanther:PTHR15301,Pfam_domain:PF07281	.	.	ENSP00000344741	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000340368	Transcript	.	.	ENSG00000186480	6083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INSI1_HUMAN	INSIG1	HGNC	C9JSG8_HUMAN	.	UPI00000015DE	SNV	INSIG1,missense_variant,p.Ala66Thr,ENST00000344756,;INSIG1,missense_variant,p.Ala218Thr,ENST00000340368,;INSIG1,missense_variant,p.Ala127Thr,ENST00000476756,;INSIG1,intron_variant,,ENST00000342407,;INSIG1,downstream_gene_variant,,ENST00000425172,;AC144652.1,upstream_gene_variant,,ENST00000609974,;INSIG1,non_coding_transcript_exon_variant,,ENST00000468307,;	863	101	97	SUCCESS
TWIST1	7291	.	GRCh37	7	19156809	19156809	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1229160500	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	37	118	0	ENST00000242261.5:c.136G>A	p.Ala46Thr	p.A46T	ENST00000242261	NM_000474.3	46	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5367.1	136	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCGCTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000242261	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000242261	Transcript	.	.	ENSG00000122691	12428	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.59)	.	TWST1_HUMAN	TWIST1	HGNC	.	.	UPI00001377DC	SNV	TWIST1,missense_variant,p.Ala46Thr,ENST00000242261,;AC003986.7,upstream_gene_variant,,ENST00000417460,;AC003986.6,downstream_gene_variant,,ENST00000419944,;TWIST1,upstream_gene_variant,,ENST00000443687,;TWIST1,upstream_gene_variant,,ENST00000354571,;	487	118	218	SUCCESS
AMZ1	155185	.	GRCh37	7	2748314	2748314	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	35	0	ENST00000312371.4:c.565T>A	p.Trp189Arg	p.W189R	ENST00000312371	NM_133463.1	189	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS34589.1	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTGGAGC	NONE	.	.	hmmpanther:PTHR32205:SF4,hmmpanther:PTHR32205	.	.	ENSP00000308149	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000312371	Transcript	.	.	ENSG00000174945	22231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	AMZ1_HUMAN	AMZ1	HGNC	B4DIY9_HUMAN,A4D202_HUMAN	.	UPI00001C1E77	SNV	AMZ1,missense_variant,p.Trp189Arg,ENST00000407112,;AMZ1,missense_variant,p.Trp189Arg,ENST00000312371,;AMZ1,non_coding_transcript_exon_variant,,ENST00000489665,;AMZ1,non_coding_transcript_exon_variant,,ENST00000485540,;AMZ1,non_coding_transcript_exon_variant,,ENST00000480560,;	933	35	41	SUCCESS
GNA12	2768	.	GRCh37	7	2834735	2834735	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	59	79	0	ENST00000275364.3:c.352C>G	p.Pro118Ala	p.P118A	ENST00000275364	NM_007353.2	118	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS5335.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGAATGC	NONE	.	.	Superfamily_domains:SSF47895,SMART_domains:SM00275,Gene3D:1.10.400.10,Pfam_domain:PF00503,hmmpanther:PTHR10218:SF130,hmmpanther:PTHR10218	.	.	ENSP00000275364	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000275364	Transcript	.	.	ENSG00000146535	4380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.08)	.	GNA12_HUMAN	GNA12	HGNC	.	.	UPI000013DA5B	SNV	GNA12,missense_variant,p.Pro33Ala,ENST00000447791,;GNA12,missense_variant,p.Pro59Ala,ENST00000407904,;GNA12,missense_variant,p.Pro118Ala,ENST00000275364,;GNA12,missense_variant,p.Pro42Ala,ENST00000544127,;GNA12,non_coding_transcript_exon_variant,,ENST00000471281,;	515	79	155	SUCCESS
CARD11	84433	.	GRCh37	7	2946324	2946324	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	57	91	0	ENST00000396946.4:c.3413A>T	p.Lys1138Met	p.K1138M	ENST00000396946	NM_032415.4	1138	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS5336.2	3413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATCTTGTCC	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000380150	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	deleterious(0.01)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Lys1138Met,ENST00000396946,;	3817	91	169	SUCCESS
BMPER	168667	.	GRCh37	7	34118743	34118743	+	synonymous_variant	Silent	SNP	G	G	A	rs755124664	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	77	117	0	ENST00000297161.2:c.1353G>A	p.Ala451=	p.A451=	ENST00000297161	NM_133468.4	451	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5442.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGCCACA	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000297161	.	13/16	.	.	.	.	.	.	.	.	rs755124664,COSM1089308	13/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,synonymous_variant,p.%3D,ENST00000297161,;BMPER,synonymous_variant,p.%3D,ENST00000426693,;BMPER,intron_variant,,ENST00000476525,;	1727	117	187	SUCCESS
POU6F2	11281	.	GRCh37	7	39379608	39379608	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	34	0	ENST00000403058.1:c.879T>A	p.Pro293=	p.P293=	ENST00000403058	NM_001166018.1	293	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34620.2	879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTCTACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636	.	.	ENSP00000384004	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000403058	Transcript	.	.	ENSG00000106536	21694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO6F2_HUMAN	POU6F2	HGNC	H0YL15_HUMAN	.	UPI0000480E81	SNV	POU6F2,synonymous_variant,p.%3D,ENST00000520104,;POU6F2,synonymous_variant,p.%3D,ENST00000403058,;POU6F2,synonymous_variant,p.%3D,ENST00000559001,;POU6F2,synonymous_variant,p.%3D,ENST00000524147,;POU6F2,synonymous_variant,p.%3D,ENST00000518318,;POU6F2,non_coding_transcript_exon_variant,,ENST00000517348,;	1033	34	56	SUCCESS
MYL7	58498	.	GRCh37	7	44180916	44180916	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	56	76	0	ENST00000223364.3:c.-12T>A		p.*4*	ENST00000223364	NM_021223.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5478.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGAGGTGT	NONE	.	.	.	.	.	ENSP00000223364	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000223364	Transcript	.	.	ENSG00000106631	21719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLRA_HUMAN	MYL7	HGNC	C9JEG4_HUMAN	.	UPI000006FF43	SNV	MYL7,5_prime_UTR_variant,,ENST00000223364,;GCK,downstream_gene_variant,,ENST00000437084,;GCK,downstream_gene_variant,,ENST00000345378,;MYL7,upstream_gene_variant,,ENST00000457314,;MYL7,upstream_gene_variant,,ENST00000446581,;MYL7,upstream_gene_variant,,ENST00000447951,;GCK,downstream_gene_variant,,ENST00000403799,;GCK,downstream_gene_variant,,ENST00000336642,;MYL7,upstream_gene_variant,,ENST00000431007,;MYL7,upstream_gene_variant,,ENST00000458240,;GCK,downstream_gene_variant,,ENST00000395796,;GCK,downstream_gene_variant,,ENST00000473353,;MYL7,upstream_gene_variant,,ENST00000434895,;MYL7,5_prime_UTR_variant,,ENST00000457910,;MYL7,upstream_gene_variant,,ENST00000476118,;MYL7,upstream_gene_variant,,ENST00000431289,;GCK,downstream_gene_variant,,ENST00000459642,;	16	76	136	SUCCESS
ELN	2006	.	GRCh37	7	73442595	73442595	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	32	0	ENST00000358929.4:c.78T>A	p.Pro26=	p.P26=	ENST00000358929	NM_001278939.1	26	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5562.2	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCTGGAGG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24018:SF2,hmmpanther:PTHR24018,Prints_domain:PR01500	.	.	ENSP00000252034	.	1/33	.	.	.	.	.	.	.	.	.	1/33	PASS	ENST00000252034	Transcript	.	.	ENSG00000049540	3327	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELN_HUMAN	ELN	HGNC	Q9UMK5_HUMAN	.	UPI0000D4A0DC	SNV	ELN,synonymous_variant,p.%3D,ENST00000380562,;ELN,synonymous_variant,p.%3D,ENST00000442310,;ELN,synonymous_variant,p.%3D,ENST00000252034,;ELN,synonymous_variant,p.%3D,ENST00000380576,;ELN,synonymous_variant,p.%3D,ENST00000380575,;ELN,synonymous_variant,p.%3D,ENST00000431562,;ELN,synonymous_variant,p.%3D,ENST00000320492,;ELN,synonymous_variant,p.%3D,ENST00000445912,;ELN,synonymous_variant,p.%3D,ENST00000438880,;ELN,synonymous_variant,p.%3D,ENST00000414324,;ELN,synonymous_variant,p.%3D,ENST00000429192,;ELN,synonymous_variant,p.%3D,ENST00000380553,;ELN,synonymous_variant,p.%3D,ENST00000358929,;ELN,synonymous_variant,p.%3D,ENST00000320399,;ELN,synonymous_variant,p.%3D,ENST00000458204,;ELN,synonymous_variant,p.%3D,ENST00000417091,;ELN,synonymous_variant,p.%3D,ENST00000357036,;ELN,synonymous_variant,p.%3D,ENST00000380584,;ELN,synonymous_variant,p.%3D,ENST00000428787,;ELN,synonymous_variant,p.%3D,ENST00000438906,;ELN,synonymous_variant,p.%3D,ENST00000416107,;ELN,non_coding_transcript_exon_variant,,ENST00000479432,;ELN,non_coding_transcript_exon_variant,,ENST00000492003,;ELN,non_coding_transcript_exon_variant,,ENST00000494160,;ELN,non_coding_transcript_exon_variant,,ENST00000473323,;ELN,non_coding_transcript_exon_variant,,ENST00000468517,;ELN,non_coding_transcript_exon_variant,,ENST00000480728,;ELN,non_coding_transcript_exon_variant,,ENST00000462506,;	477	32	21	SUCCESS
HGF	3082	.	GRCh37	7	81355282	81355282	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	14	149	0	ENST00000222390.5:c.1092G>C	p.Trp364Cys	p.W364C	ENST00000222390	NM_000601.4	364	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS5597.1	1092	MUTECT|MUSE|VARSCANS	.	AAACACCAGGG	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,PROSITE_patterns:PS00021,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000222390	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Trp359Cys,ENST00000457544,;HGF,missense_variant,p.Trp364Cys,ENST00000222390,;	1319	149	147	SUCCESS
PCLO	27445	.	GRCh37	7	82580060	82580060	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	58	0	ENST00000333891.9:c.9844A>T	p.Arg3282Trp	p.R3282W	ENST00000333891	NM_033026.5	3282	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47630.1	9844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTCATCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Arg2Trp,ENST00000437081,;PCLO,missense_variant,p.Arg3282Trp,ENST00000333891,;PCLO,missense_variant,p.Arg3282Trp,ENST00000423517,;	10182	58	60	SUCCESS
PCLO	27445	.	GRCh37	7	82585634	82585634	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	54	0	ENST00000333891.9:c.4635C>A	p.Asp1545Glu	p.D1545E	ENST00000333891	NM_033026.5	1545	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS47630.1	4635	MUTECT|MUSE	.	TGGCTGTCTTC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Asp1545Glu,ENST00000333891,;PCLO,missense_variant,p.Asp1545Glu,ENST00000423517,;	4973	54	44	SUCCESS
SEMA3E	9723	.	GRCh37	7	82997259	82997259	+	synonymous_variant	Silent	SNP	T	T	C	rs780529361	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	96	0	ENST00000307792.3:c.1971A>G	p.Val657=	p.V657=	ENST00000307792	NM_012431.2	657	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS34674.1	1971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTACTGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000303212	.	17/17	.	.	.	.	.	.	.	.	rs780529361	17/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,synonymous_variant,p.%3D,ENST00000427262,;SEMA3E,synonymous_variant,p.%3D,ENST00000307792,;	2439	96	89	SUCCESS
ZNF394	84124	.	GRCh37	7	99096398	99096398	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1466170208	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	60	0	ENST00000337673.6:c.524C>T	p.Ala175Val	p.A175V	ENST00000337673	NM_032164.2	175	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5666.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGCTGGG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000337363	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000337673	Transcript	.	.	ENSG00000160908	18832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	tolerated(0.27)	.	ZN394_HUMAN	ZNF394	HGNC	.	.	UPI000006F498	SNV	ZNF394,missense_variant,p.Ala175Val,ENST00000337673,;ZNF789,intron_variant,,ENST00000493485,;ZNF394,intron_variant,,ENST00000426306,;ZNF394,non_coding_transcript_exon_variant,,ENST00000462024,;ZNF394,non_coding_transcript_exon_variant,,ENST00000394177,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,non_coding_transcript_exon_variant,,ENST00000485576,;ZNF394,non_coding_transcript_exon_variant,,ENST00000464401,;ZNF394,non_coding_transcript_exon_variant,,ENST00000481881,;	728	60	59	SUCCESS
GRHL2	79977	.	GRCh37	8	102570707	102570707	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	289	39	131	0	ENST00000251808.3:c.345A>T	p.Gln115His	p.Q115H	ENST00000251808	NM_024915.3	115	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS34931.1	345	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAAGTCCT	NONE	.	.	hmmpanther:PTHR11037:SF17,hmmpanther:PTHR11037	.	.	ENSP00000251808	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000251808	Transcript	1	.	ENSG00000083307	2799	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.179)	.	tolerated(0.24)	.	GRHL2_HUMAN	GRHL2	HGNC	.	.	UPI000013CD16	SNV	GRHL2,missense_variant,p.Gln115His,ENST00000251808,;GRHL2,missense_variant,p.Gln99His,ENST00000395927,;KB-1562D12.3,downstream_gene_variant,,ENST00000524051,;	683	131	328	SUCCESS
ZFPM2	23414	.	GRCh37	8	106331209	106331209	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1240193228	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	480	135	269	0	ENST00000407775.2:c.40C>T	p.Arg14Trp	p.R14W	ENST00000407775	NM_012082.3	14	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS47908.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAACGTAAG	NONE	.	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	deleterious(0)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Arg14Trp,ENST00000407775,;ZFPM2,upstream_gene_variant,,ENST00000520492,;RP11-127H5.1,intron_variant,,ENST00000518180,;	290	269	616	SUCCESS
TRPS1	7227	.	GRCh37	8	116616720	116616720	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	15	82	0	ENST00000220888.5:c.1437T>C	p.Ser479=	p.S479=	ENST00000220888		479	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6318.2	1476	MUTECT|MUSE|VARSCANS	.	ATGACAGAGCC	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,synonymous_variant,p.%3D,ENST00000520276,;TRPS1,synonymous_variant,p.%3D,ENST00000220888,;TRPS1,synonymous_variant,p.%3D,ENST00000395715,;TRPS1,synonymous_variant,p.%3D,ENST00000519674,;TRPS1,intron_variant,,ENST00000517323,;TRPS1,intron_variant,,ENST00000519076,;	2054	82	164	SUCCESS
TRPS1	7227	.	GRCh37	8	116631492	116631492	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	23	178	0	ENST00000220888.5:c.794T>A	p.Leu265Ter	p.L265*	ENST00000220888		265	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS6318.2	833	MUTECT|MUSE|VARSCANS	.	GGGCCAAGATT	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,stop_gained,p.Leu269Ter,ENST00000520276,;TRPS1,stop_gained,p.Leu219Ter,ENST00000519076,;TRPS1,stop_gained,p.Leu278Ter,ENST00000395715,;TRPS1,stop_gained,p.Leu265Ter,ENST00000519674,;TRPS1,stop_gained,p.Leu265Ter,ENST00000220888,;TRPS1,stop_gained,p.Leu269Ter,ENST00000517323,;TRPS1,downstream_gene_variant,,ENST00000451156,;TRPS1,downstream_gene_variant,,ENST00000422939,;TRPS1,downstream_gene_variant,,ENST00000519815,;TRPS1,downstream_gene_variant,,ENST00000395713,;	1411	178	267	SUCCESS
SCRIB	23513	.	GRCh37	8	144893456	144893456	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	30	84	1	ENST00000320476.3:c.966C>A	p.Asn322Lys	p.N322K	ENST00000320476	NM_015356.4	322	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS6412.1	966	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGTTCCG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF412,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058	.	.	ENSP00000349486	.	10/37	.	.	.	.	.	.	.	.	.	10/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Asn241Lys,ENST00000377533,;SCRIB,missense_variant,p.Asn322Lys,ENST00000356994,;SCRIB,missense_variant,p.Asn322Lys,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	973	85	170	SUCCESS
KIFC2	90990	.	GRCh37	8	145698549	145698549	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1246540036	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	13	80	0	ENST00000301332.2:c.2233T>C	p.Ser745Pro	p.S745P	ENST00000301332	NM_145754.2	745	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6427.1	2233	MUTECT|MUSE	.	GACAGTCTGCT	NONE	.	.	.	.	.	ENSP00000301332	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000301332	Transcript	.	.	ENSG00000167702	29530	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.043)	.	tolerated_low_confidence(0.15)	.	KIFC2_HUMAN	KIFC2	HGNC	.	.	UPI000006D3B2	SNV	KIFC2,missense_variant,p.Ser745Pro,ENST00000301332,;KIFC2,3_prime_UTR_variant,,ENST00000301331,;FOXH1,downstream_gene_variant,,ENST00000377317,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;KIFC2,downstream_gene_variant,,ENST00000531423,;FOXH1,downstream_gene_variant,,ENST00000525197,;KIFC2,non_coding_transcript_exon_variant,,ENST00000531425,;KIFC2,downstream_gene_variant,,ENST00000529864,;KIFC2,downstream_gene_variant,,ENST00000529644,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;KIFC2,downstream_gene_variant,,ENST00000533114,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;	2610	80	177	SUCCESS
MYOM2	9172	.	GRCh37	8	2000383	2000383	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774732664	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	72	0	ENST00000262113.4:c.215C>T	p.Ala72Val	p.A72V	ENST00000262113	NM_003970.2	72	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5957.1	215	MUTECT|MUSE	.	CTGTGCGAAGC	NONE	byFrequency	.	hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900	.	.	ENSP00000262113	.	3/37	.	.	.	.	.	.	.	.	rs774732664	3/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.23)	.	tolerated(0.15)	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,missense_variant,p.Ala72Val,ENST00000262113,;MYOM2,intron_variant,,ENST00000523438,;	356	72	53	SUCCESS
PIWIL2	55124	.	GRCh37	8	22137035	22137035	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	94	0	ENST00000356766.6:c.136G>A	p.Gly46Ser	p.G46S	ENST00000356766	NM_018068.3	46	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS6029.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22892:SF30,hmmpanther:PTHR22892	.	.	ENSP00000349208	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000356766	Transcript	.	.	ENSG00000197181	17644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	tolerated_low_confidence(0.27)	.	PIWL2_HUMAN	PIWIL2	HGNC	.	.	UPI000006E98E	SNV	PIWIL2,missense_variant,p.Gly46Ser,ENST00000521356,;PIWIL2,missense_variant,p.Gly46Ser,ENST00000454009,;PIWIL2,missense_variant,p.Gly46Ser,ENST00000356766,;CTD-2530N21.4,upstream_gene_variant,,ENST00000523556,;	284	94	91	SUCCESS
INTS9	55756	.	GRCh37	8	28627515	28627515	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	54	0	ENST00000521022.1:c.1691G>A	p.Ser564Asn	p.S564N	ENST00000521022	NM_018250.3	564	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS34873.1	1691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCTCGTG	NONE	.	.	hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF2	.	.	ENSP00000429065	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000521022	Transcript	.	.	ENSG00000104299	25592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.51)	.	INT9_HUMAN	INTS9	HGNC	H7BYQ6_HUMAN,E5RJ88_HUMAN	.	UPI0000071C2E	SNV	INTS9,missense_variant,p.Ser458Asn,ENST00000397363,;INTS9,missense_variant,p.Ser540Asn,ENST00000521777,;INTS9,missense_variant,p.Ser543Asn,ENST00000416984,;INTS9,missense_variant,p.Ser564Asn,ENST00000521022,;INTS9,missense_variant,p.Ser38Asn,ENST00000517383,;INTS9,non_coding_transcript_exon_variant,,ENST00000519578,;INTS9,3_prime_UTR_variant,,ENST00000523303,;INTS9,3_prime_UTR_variant,,ENST00000522363,;INTS9,non_coding_transcript_exon_variant,,ENST00000520316,;INTS9,downstream_gene_variant,,ENST00000520005,;	1773	54	36	SUCCESS
KCNB2	9312	.	GRCh37	8	73849796	73849796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	16	102	0	ENST00000523207.1:c.2206C>T	p.Pro736Ser	p.P736S	ENST00000523207	NM_004770.2	736	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS6209.1	2206	MUTECT|MUSE	.	CCAGGCCACTG	NONE	.	.	Pfam_domain:PF03521	.	.	ENSP00000430846	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.297)	.	deleterious_low_confidence(0.02)	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Pro736Ser,ENST00000523207,;	2794	102	208	SUCCESS
PMP2	5375	.	GRCh37	8	82359627	82359627	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs771166582	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	34	107	0	ENST00000256103.2:c.-6A>T		p.*2*	ENST00000256103	NM_002677.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6229.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGTGATGGGTG	NONE	byFrequency	.	.	.	.	ENSP00000256103	.	1/4	.	.	.	.	.	.	.	.	rs771166582	1/4	PASS	ENST00000256103	Transcript	.	.	ENSG00000147588	9117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYP2_HUMAN	PMP2	HGNC	.	.	UPI000013CEEB	SNV	PMP2,5_prime_UTR_variant,,ENST00000519260,;PMP2,5_prime_UTR_variant,,ENST00000256103,;RP11-157I4.4,intron_variant,,ENST00000524085,;	132	107	225	SUCCESS
SLC10A5	347051	.	GRCh37	8	82606852	82606852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	190	31	97	0	ENST00000518568.1:c.356A>T	p.Lys119Met	p.K119M	ENST00000518568	NM_001010893.2	119	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS34915.1	356	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTTGATT	NONE	.	.	hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF29	.	.	ENSP00000428612	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000518568	Transcript	.	.	ENSG00000253598	22981	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.07)	.	tolerated(0.08)	.	NTCP5_HUMAN	SLC10A5	HGNC	.	.	UPI0000051F68	SNV	SLC10A5,missense_variant,p.Lys119Met,ENST00000518568,;	1558	97	221	SUCCESS
SLC44A1	23446	.	GRCh37	9	108145486	108145486	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	59	0	ENST00000374720.3:c.1715T>A	p.Leu572Gln	p.L572Q	ENST00000374720	NM_080546.3	572	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS6763.1	1715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTGATCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF35,Pfam_domain:PF04515	.	.	ENSP00000363852	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000374720	Transcript	.	.	ENSG00000070214	18798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CTL1_HUMAN	SLC44A1	HGNC	B3KMS7_HUMAN	.	UPI0000062328	SNV	SLC44A1,missense_variant,p.Leu572Gln,ENST00000374720,;SLC44A1,missense_variant,p.Leu572Gln,ENST00000374724,;SLC44A1,missense_variant,p.Leu364Gln,ENST00000343170,;SLC44A1,missense_variant,p.Leu572Gln,ENST00000374723,;SLC44A1,upstream_gene_variant,,ENST00000436716,;SLC44A1,missense_variant,p.Leu572Gln,ENST00000470972,;	1962	59	69	SUCCESS
DAB2IP	153090	.	GRCh37	9	124535752	124535752	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	23	126	0	ENST00000408936.3:c.2945A>T	p.Lys982Met	p.K982M	ENST00000408936		982	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS6833.2	2861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAAGCCAC	NONE	.	.	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Pfam_domain:PF12004	.	.	ENSP00000259371	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000259371	Transcript	.	.	ENSG00000136848	17294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	DAB2P_HUMAN	DAB2IP	HGNC	H0Y3A3_HUMAN,F8WA47_HUMAN,F6R503_HUMAN,B3KW96_HUMAN	.	UPI0000D77E70	SNV	DAB2IP,missense_variant,p.Lys982Met,ENST00000408936,;DAB2IP,missense_variant,p.Lys954Met,ENST00000259371,;DAB2IP,missense_variant,p.Lys891Met,ENST00000373782,;DAB2IP,missense_variant,p.Lys858Met,ENST00000309989,;DAB2IP,downstream_gene_variant,,ENST00000459906,;	2930	126	112	SUCCESS
SSNA1	8636	.	GRCh37	9	140083520	140083520	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1364484728	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	85	0	ENST00000322310.5:c.55A>G	p.Ile19Val	p.I19V	ENST00000322310	NM_003731.2	19	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7034.1	55	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCATAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Gene3D:3.40.50.300	.	.	ENSP00000313752	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000322310	Transcript	.	.	ENSG00000176101	11321	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.06)	.	deleterious(0.05)	.	SSNA1_HUMAN	SSNA1	HGNC	.	.	UPI0000140DC3	SNV	SSNA1,missense_variant,p.Ile19Val,ENST00000322310,;TPRN,downstream_gene_variant,,ENST00000409012,;TPRN,downstream_gene_variant,,ENST00000321773,;TPRN,downstream_gene_variant,,ENST00000333046,;ANAPC2,upstream_gene_variant,,ENST00000323927,;SSNA1,splice_region_variant,,ENST00000464553,;SSNA1,non_coding_transcript_exon_variant,,ENST00000459860,;SSNA1,non_coding_transcript_exon_variant,,ENST00000463511,;ANAPC2,upstream_gene_variant,,ENST00000495611,;TPRN,downstream_gene_variant,,ENST00000541945,;TPRN,downstream_gene_variant,,ENST00000477345,;	135	85	97	SUCCESS
PSIP1	11168	.	GRCh37	9	15472658	15472658	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	82	0	ENST00000380733.4:c.949A>C	p.Lys317Gln	p.K317Q	ENST00000380733		317	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS6479.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTTGCGTT	BUFFER|p.R314*|c.940C>T|3,BUFFER|p.R314*|c.940C>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12550	.	.	ENSP00000370109	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000380733	Transcript	.	.	ENSG00000164985	9527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.12)	.	PSIP1_HUMAN	PSIP1	HGNC	Q8N4N4_HUMAN	.	UPI0000073FC4	SNV	PSIP1,missense_variant,p.Lys317Gln,ENST00000397519,;PSIP1,missense_variant,p.Lys317Gln,ENST00000380716,;PSIP1,missense_variant,p.Lys317Gln,ENST00000380715,;PSIP1,missense_variant,p.Lys31Gln,ENST00000481862,;PSIP1,missense_variant,p.Lys317Gln,ENST00000380738,;PSIP1,missense_variant,p.Lys317Gln,ENST00000380733,;PSIP1,non_coding_transcript_exon_variant,,ENST00000495873,;	1293	82	76	SUCCESS
DENND4C	55667	.	GRCh37	9	19371560	19371560	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	20	0	ENST00000602925.1:c.5529-194T>C		p.*1843*	ENST00000602925	NM_017925.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6491.3	.	MUTECT|MUSE	.	CAATGTAGCCT	NONE	.	.	.	.	.	ENSP00000473565	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	MODIFIER	30/31	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,intron_variant,,ENST00000361024,;DENND4C,intron_variant,,ENST00000380432,;DENND4C,intron_variant,,ENST00000434457,;DENND4C,intron_variant,,ENST00000602925,;DENND4C,intron_variant,,ENST00000380427,;RPS6,downstream_gene_variant,,ENST00000380384,;RPS6,downstream_gene_variant,,ENST00000315377,;RPS6,downstream_gene_variant,,ENST00000380394,;RP11-513M16.7,non_coding_transcript_exon_variant,,ENST00000609609,;RP11-513M16.8,upstream_gene_variant,,ENST00000609982,;RPS6,downstream_gene_variant,,ENST00000498815,;DENND4C,intron_variant,,ENST00000380437,;DENND4C,intron_variant,,ENST00000494124,;	.	20	30	SUCCESS
MLLT3	4300	.	GRCh37	9	20622332	20622332	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	52	0	ENST00000380338.4:c.-77C>T		p.*26*	ENST00000380338	NM_004529.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6494.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATGAAGAG	NONE	.	.	.	.	.	ENSP00000369695	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000380338	Transcript	.	.	ENSG00000171843	7136	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF9_HUMAN	MLLT3	HGNC	Q6LEQ8_HUMAN,B1APT5_HUMAN	.	UPI00002111CB	SNV	MLLT3,5_prime_UTR_variant,,ENST00000355930,;MLLT3,5_prime_UTR_variant,,ENST00000380338,;MLLT3,upstream_gene_variant,,ENST00000429426,;MLLT3,non_coding_transcript_exon_variant,,ENST00000475957,;	211	52	54	SUCCESS
TEK	7010	.	GRCh37	9	27109459	27109459	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	42	0	ENST00000380036.4:c.-130T>C		p.*44*	ENST00000380036	NM_000459.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6519.1	.	MUTECT|MUSE	.	CCTTCTTGCCT	NONE	.	.	.	.	.	ENSP00000369375	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,5_prime_UTR_variant,,ENST00000406359,;TEK,5_prime_UTR_variant,,ENST00000519097,;TEK,5_prime_UTR_variant,,ENST00000519080,;TEK,5_prime_UTR_variant,,ENST00000380036,;RP11-56F10.3,downstream_gene_variant,,ENST00000522960,;	313	42	61	SUCCESS
UBAP2	55833	.	GRCh37	9	33948600	33948600	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	95	0	ENST00000360802.1:c.1057-15A>C		p.*353*	ENST00000360802	NM_018449.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6547.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGATAAAAG	NONE	.	.	.	.	.	ENSP00000368540	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	MODIFIER	12/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,5_prime_UTR_variant,,ENST00000379225,;UBAP2,intron_variant,,ENST00000379238,;UBAP2,intron_variant,,ENST00000379239,;UBAP2,intron_variant,,ENST00000418786,;UBAP2,intron_variant,,ENST00000421278,;UBAP2,intron_variant,,ENST00000449054,;UBAP2,intron_variant,,ENST00000412543,;UBAP2,intron_variant,,ENST00000539807,;UBAP2,intron_variant,,ENST00000360802,;SNORD121A,downstream_gene_variant,,ENST00000459386,;UBAP2,intron_variant,,ENST00000462799,;	.	95	113	SUCCESS
SMC5	23137	.	GRCh37	9	72938409	72938409	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	350	86	402	1	ENST00000361138.5:c.2161A>T	p.Met721Leu	p.M721L	ENST00000361138	NM_015110.3	721	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS6632.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGATGGAA	NONE	.	.	hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306,Pfam_domain:PF02463	.	.	ENSP00000354957	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.79)	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,missense_variant,p.Met721Leu,ENST00000361138,;SMC5,upstream_gene_variant,,ENST00000475540,;	2219	403	436	SUCCESS
PRUNE2	158471	.	GRCh37	9	79320430	79320430	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	34	148	0	ENST00000376718.3:c.6760A>T	p.Ser2254Cys	p.S2254C	ENST00000376718	NM_015225.2	2254	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS47982.1	6760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTGTCTG	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.428)	.	deleterious(0.02)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Ser1576Cys,ENST00000426088,;PRUNE2,missense_variant,p.Ser2254Cys,ENST00000376718,;PRUNE2,missense_variant,p.Ser1895Cys,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	6884	148	135	SUCCESS
TLE4	7091	.	GRCh37	9	82324551	82324551	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	72	0	ENST00000376552.2:c.1277C>G	p.Pro426Arg	p.P426R	ENST00000376552	NM_007005.3	426	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS43837.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCACACC	NONE	.	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21	.	.	ENSP00000365735	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.Pro63Arg,ENST00000376534,;TLE4,missense_variant,p.Pro426Arg,ENST00000376552,;TLE4,missense_variant,p.Pro191Arg,ENST00000417836,;TLE4,missense_variant,p.Pro458Arg,ENST00000376537,;TLE4,missense_variant,p.Pro357Arg,ENST00000376544,;TLE4,missense_variant,p.Pro154Arg,ENST00000467142,;TLE4,missense_variant,p.Pro458Arg,ENST00000376520,;TLE4,missense_variant,p.Pro401Arg,ENST00000265284,;TLE4,missense_variant,p.Pro217Arg,ENST00000496114,;TLE4,downstream_gene_variant,,ENST00000490347,;TLE4,downstream_gene_variant,,ENST00000428713,;TLE4,non_coding_transcript_exon_variant,,ENST00000478290,;TLE4,downstream_gene_variant,,ENST00000463431,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,downstream_gene_variant,,ENST00000495170,;	2295	72	73	SUCCESS
SPATA31C1	441452	.	GRCh37	9	90535925	90535925	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	35	116	0	ENST00000420021.2:n.1400C>G		p.*467*	ENST00000420021				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCAGTCC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000420021	Transcript	.	.	ENSG00000230246	27846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31C1	HGNC	.	.	.	SNV	SPATA31C1,non_coding_transcript_exon_variant,,ENST00000602681,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000437823,;SPATA31C1,non_coding_transcript_exon_variant,,ENST00000420021,;	1400	116	123	SUCCESS
DCAF12L1	139170	.	GRCh37	X	125686535	125686535	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	130	0	ENST00000371126.1:c.57C>T	p.Asp19=	p.D19=	ENST00000371126	NM_178470.4	19	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS14610.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCGTCCGC	NONE	.	.	hmmpanther:PTHR19860:SF9,hmmpanther:PTHR19860	.	.	ENSP00000360167	.	1/2	.	.	.	.	.	.	.	.	COSM237274	1/2	PASS	ENST00000371126	Transcript	.	.	ENSG00000198889	29395	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DC121_HUMAN	DCAF12L1	HGNC	.	.	UPI0000160112	SNV	DCAF12L1,synonymous_variant,p.%3D,ENST00000371126,;	300	130	103	SUCCESS
ELF4	2000	.	GRCh37	X	129205014	129205014	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	63	0	ENST00000308167.5:c.809+1G>C		p.X270_splice	ENST00000308167	NM_001421.3	270		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14617.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTACCTTAG	NONE	.	.	.	.	.	ENSP00000311280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308167	Transcript	.	.	ENSG00000102034	3319	.	.	HIGH	7/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELF4_HUMAN	ELF4	HGNC	B1AL80_HUMAN	.	UPI0000072B32	SNV	ELF4,splice_donor_variant,,ENST00000335997,;ELF4,splice_donor_variant,,ENST00000308167,;ELF4,downstream_gene_variant,,ENST00000434609,;	.	63	70	SUCCESS
EGFL6	25975	.	GRCh37	X	13587870	13587870	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	54	0	ENST00000361306.1:c.-111C>A		p.*37*	ENST00000361306	NM_015507.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55370.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCGGAGG	NONE	.	.	.	.	.	ENSP00000369976	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000380602	Transcript	.	.	ENSG00000198759	3235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFL6_HUMAN	EGFL6	HGNC	.	.	UPI0000034CAE	SNV	EGFL6,5_prime_UTR_variant,,ENST00000380602,;EGFL6,5_prime_UTR_variant,,ENST00000361306,;RPL30P15,upstream_gene_variant,,ENST00000457129,;	130	54	54	SUCCESS
MOSPD2	158747	.	GRCh37	X	14915270	14915270	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	236	203	435	0	ENST00000380492.3:c.387A>T	p.Ile129=	p.I129=	ENST00000380492	NM_152581.3	129	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS14162.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATAGCATT	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR19993,hmmpanther:PTHR19993:SF1,Pfam_domain:PF00650,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000369860	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000380492	Transcript	.	.	ENSG00000130150	28381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSPD2_HUMAN	MOSPD2	HGNC	.	.	UPI00000735BA	SNV	MOSPD2,synonymous_variant,p.%3D,ENST00000482354,;MOSPD2,synonymous_variant,p.%3D,ENST00000380492,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000495110,;MOSPD2,downstream_gene_variant,,ENST00000461777,;	475	435	439	SUCCESS
DMD	1756	.	GRCh37	X	32716095	32716095	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	41	167	0	ENST00000357033.4:c.852G>T	p.Gln284His	p.Q284H	ENST00000357033	NM_004007.2	284	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS14233.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCCTGTGC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	9/79	.	.	.	.	.	.	.	.	.	9/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.763)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Gln284His,ENST00000357033,;DMD,missense_variant,p.Gln280His,ENST00000378677,;DMD,missense_variant,p.Gln276His,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	1059	167	158	SUCCESS
NSUN6	221078	.	GRCh37	10	18840757	18840757	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs770500005	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	55	113	0	ENST00000377304.4:c.1066A>T	p.Thr356Ser	p.T356S	ENST00000377304	NM_182543.2	356	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7130.1	1066	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTGAAGA	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:3.40.50.150,Pfam_domain:PF01189,hmmpanther:PTHR22807:SF31,hmmpanther:PTHR22807,PROSITE_profiles:PS51686	.	.	ENSP00000366519	.	9/11	.	.	.	.	.	.	.	.	rs770500005	9/11	PASS	ENST00000377304	Transcript	.	.	ENSG00000241058	23529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.86)	.	NSUN6_HUMAN	NSUN6	HGNC	.	.	UPI0000073CED	SNV	NSUN6,missense_variant,p.Thr356Ser,ENST00000377304,;NSUN6,upstream_gene_variant,,ENST00000493816,;	1485	113	120	SUCCESS
PARG	8505	.	GRCh37	10	51028243	51028243	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	46	100	0	ENST00000402038.3:c.1289A>G	p.His430Arg	p.H430R	ENST00000402038	NM_003631.2	430	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	.	1289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTGCATG	NONE	.	.	hmmpanther:PTHR12837	.	.	ENSP00000384408	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000402038	Transcript	.	.	ENSG00000227345	8605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	PARG_HUMAN	PARG	HGNC	B4DX76_HUMAN,B4DHS4_HUMAN	.	UPI0000404B69	SNV	PARG,missense_variant,p.His430Arg,ENST00000402038,;RP11-507K13.6,downstream_gene_variant,,ENST00000444021,;	1289	100	95	SUCCESS
PHYHIPL	84457	.	GRCh37	10	61005248	61005248	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	40	91	0	ENST00000373880.4:c.1028G>C	p.Gly343Ala	p.G343A	ENST00000373880	NM_032439.3	343	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS7254.1	1028	RADIA|MUTECT|MUSE	.	TGTGGGCACCG	NONE	.	.	hmmpanther:PTHR15698:SF6,hmmpanther:PTHR15698	.	.	ENSP00000362987	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000373880	Transcript	.	.	ENSG00000165443	29378	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	PHIPL_HUMAN	PHYHIPL	HGNC	.	.	UPI0000199879	SNV	PHYHIPL,missense_variant,p.Gly317Ala,ENST00000373878,;PHYHIPL,missense_variant,p.Gly343Ala,ENST00000373880,;FAM13C,downstream_gene_variant,,ENST00000419214,;FAM13C,downstream_gene_variant,,ENST00000468840,;FAM13C,downstream_gene_variant,,ENST00000373868,;FAM13C,downstream_gene_variant,,ENST00000277705,;FAM13C,downstream_gene_variant,,ENST00000442566,;FAM13C,downstream_gene_variant,,ENST00000373867,;FAM13C,downstream_gene_variant,,ENST00000489341,;PHYHIPL,3_prime_UTR_variant,,ENST00000486074,;FAM13C,downstream_gene_variant,,ENST00000513059,;	1292	91	42	SUCCESS
EIF5AL1	143244	.	GRCh37	10	81272785	81272785	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	135	0	ENST00000520547.2:c.380A>C	p.Tyr127Ser	p.Y127S	ENST00000520547	NM_001099692.1	127	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS53546.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTACGACT	NONE	.	.	hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,Pfam_domain:PF01287,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00037,PIRSF_domain:PIRSF003025,Superfamily_domains:SSF50249	.	.	ENSP00000430706	.	1/1	.	.	.	.	.	.	.	.	COSM1492361,COSM1492362	1/1	PASS	ENST00000520547	Transcript	.	.	ENSG00000253626	17419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.169)	.	deleterious(0.01)	1,1	IF5AL_HUMAN	EIF5AL1	HGNC	.	.	UPI00001972AD	SNV	EIF5AL1,missense_variant,p.Tyr127Ser,ENST00000520547,;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;	429	135	82	SUCCESS
PTEN	5728	.	GRCh37	10	89720875	89720875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs398123314	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	108	249	0	ENST00000371953.3:c.1026G>T	p.Lys342Asn	p.K342N	ENST00000371953	NM_000314.4	342	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS31238.1	1026	RADIA|MUTECT|MUSE	uncertain_significance	TTTAAGGTCAG	CODON|p.0?|c.1_1212del1212|28,CODON|p.?|c.1026+1G>T|3,BUFFER|p.P339S|c.1015C>T|3,BUFFER|p.P339L|c.1016C>T|3,BUFFER|p.F341V|c.1021T>G|4,BUFFER|p.K342R|c.1025A>G|3	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	.	.	ENSP00000361021	.	8/9	.	.	.	.	.	.	.	.	rs398123314,COSM5184,COSM921159	8/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	benign(0.202)	.	deleterious(0.04)	0,1,1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,missense_variant,p.Lys342Asn,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	2383	249	126	SUCCESS
PARVA	55742	.	GRCh37	11	12495474	12495474	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs758509655	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	123	1	ENST00000334956.8:c.361C>T	p.Arg121Ter	p.R121*	ENST00000334956	NM_018222.4	121	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS44541.2	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCGAACA	NONE	byFrequency	.	hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF6,Superfamily_domains:SSF47576	.	.	ENSP00000334008	.	3/13	.	.	.	.	.	.	.	.	rs758509655	3/13	PASS	ENST00000334956	Transcript	.	.	ENSG00000197702	14652	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PARVA	HGNC	J3KNQ4_HUMAN	.	UPI0000EE3866	SNV	PARVA,stop_gained,p.Arg45Ter,ENST00000528916,;PARVA,stop_gained,p.Arg81Ter,ENST00000539723,;PARVA,stop_gained,p.Arg121Ter,ENST00000334956,;PARVA,stop_gained,p.Arg28Ter,ENST00000538608,;PARVA,stop_gained,p.Arg81Ter,ENST00000550549,;PARVA,non_coding_transcript_exon_variant,,ENST00000526746,;PARVA,non_coding_transcript_exon_variant,,ENST00000533392,;PARVA,non_coding_transcript_exon_variant,,ENST00000533345,;PARVA,non_coding_transcript_exon_variant,,ENST00000530755,;	704	124	110	SUCCESS
ANO9	338440	.	GRCh37	11	431763	431763	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	43	0	ENST00000332826.6:c.470A>G	p.Glu157Gly	p.E157G	ENST00000332826	NM_001012302.2	157	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS31326.1	470	MUTECT|MUSE	.	GTCCCTCCCCC	NONE	.	.	hmmpanther:PTHR12308:SF27,hmmpanther:PTHR12308	.	.	ENSP00000332788	.	7/23	.	.	.	.	.	.	.	.	COSM1298028	7/23	PASS	ENST00000332826	Transcript	.	.	ENSG00000185101	20679	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.632)	.	deleterious(0.04)	1	ANO9_HUMAN	ANO9	HGNC	.	.	UPI00001D782B	SNV	ANO9,missense_variant,p.Glu157Gly,ENST00000332826,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,upstream_gene_variant,,ENST00000525857,;ANO9,upstream_gene_variant,,ENST00000526142,;ANO9,upstream_gene_variant,,ENST00000534161,;	555	43	56	SUCCESS
OR5D14	219436	.	GRCh37	11	55563231	55563231	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	36	72	0	ENST00000335605.1:c.200A>C	p.His67Pro	p.H67P	ENST00000335605	NM_001004735.1	67	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS31508.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCACCTCT	BUFFER|p.F64F|c.192C>T|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	COSM4033681	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.954)	.	deleterious(0)	1	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.His67Pro,ENST00000335605,;	200	72	69	SUCCESS
MS4A6E	245802	.	GRCh37	11	60107402	60107402	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	41	0	ENST00000300182.4:c.418G>C	p.Val140Leu	p.V140L	ENST00000300182	NM_139249.2	140	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS7984.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	.	ENSP00000300182	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000300182	Transcript	.	.	ENSG00000166926	14285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	tolerated(0.1)	.	M4A6E_HUMAN	MS4A6E	HGNC	H0YD45_HUMAN	.	UPI0000073D4C	SNV	MS4A6E,missense_variant,p.Val140Leu,ENST00000300182,;MS4A6E,missense_variant,p.Val115Leu,ENST00000532756,;MS4A6E,downstream_gene_variant,,ENST00000530509,;	483	41	39	SUCCESS
TIMM10B	26515	.	GRCh37	11	6503054	6503054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	36	0	ENST00000254616.6:c.107T>C	p.Leu36Ser	p.L36S	ENST00000254616	NM_012192.3	36	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS7766.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTGCACC	NONE	.	.	hmmpanther:PTHR13172:SF0,hmmpanther:PTHR13172,Pfam_domain:PF02953,Gene3D:1.10.287.810,Superfamily_domains:SSF144122	.	.	ENSP00000254616	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000254616	Transcript	.	.	ENSG00000132286	4022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	T10B_HUMAN	TIMM10B	HGNC	B2R4A9_HUMAN	.	UPI000012D5F0	SNV	TIMM10B,missense_variant,p.Leu36Ser,ENST00000254616,;TIMM10B,intron_variant,,ENST00000530751,;ARFIP2,upstream_gene_variant,,ENST00000525235,;ARFIP2,upstream_gene_variant,,ENST00000396777,;ARFIP2,upstream_gene_variant,,ENST00000254584,;ARFIP2,upstream_gene_variant,,ENST00000445086,;ARFIP2,upstream_gene_variant,,ENST00000423813,;TIMM10B,missense_variant,p.Leu36Ser,ENST00000533379,;TIMM10B,missense_variant,p.Leu36Ser,ENST00000472836,;TIMM10B,non_coding_transcript_exon_variant,,ENST00000528908,;TIMM10B,intron_variant,,ENST00000531462,;TIMM10B,intron_variant,,ENST00000464330,;ARFIP2,upstream_gene_variant,,ENST00000531037,;ARFIP2,upstream_gene_variant,,ENST00000525329,;ARFIP2,upstream_gene_variant,,ENST00000530410,;ARFIP2,upstream_gene_variant,,ENST00000529847,;	177	36	41	SUCCESS
GAL3ST3	89792	.	GRCh37	11	65810480	65810480	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	32	0	ENST00000312006.4:c.794C>T	p.Ala265Val	p.A265V	ENST00000312006	NM_033036.2	265	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8128.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGCGTAG	NONE	.	.	Pfam_domain:PF06990,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF1,Low_complexity_(Seg):seg	.	.	ENSP00000308591	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312006	Transcript	.	.	ENSG00000175229	24144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.4)	.	G3ST3_HUMAN	GAL3ST3	HGNC	.	.	UPI0000071842	SNV	GAL3ST3,missense_variant,p.Ala265Val,ENST00000527878,;GAL3ST3,missense_variant,p.Ala265Val,ENST00000312006,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	1076	32	48	SUCCESS
TAF10	6881	.	GRCh37	11	6632187	6632187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	77	141	0	ENST00000299424.4:c.623G>T	p.Gly208Val	p.G208V	ENST00000299424	NM_006284.3	208	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7769.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCCATAC	NONE	.	.	Prints_domain:PR01443,PIRSF_domain:PIRSF017246,hmmpanther:PTHR21242,hmmpanther:PTHR21242:SF0	.	.	ENSP00000299424	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299424	Transcript	.	.	ENSG00000166337	11543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TAF10_HUMAN	TAF10	HGNC	.	.	UPI00001367EB	SNV	TAF10,missense_variant,p.Gly208Val,ENST00000299424,;ILK,downstream_gene_variant,,ENST00000528995,;TPP1,downstream_gene_variant,,ENST00000533371,;TPP1,downstream_gene_variant,,ENST00000299427,;ILK,downstream_gene_variant,,ENST00000420936,;ILK,downstream_gene_variant,,ENST00000396751,;ILK,downstream_gene_variant,,ENST00000537806,;ILK,downstream_gene_variant,,ENST00000299421,;RP11-732A19.2,upstream_gene_variant,,ENST00000527398,;TAF10,non_coding_transcript_exon_variant,,ENST00000527248,;ILK,downstream_gene_variant,,ENST00000534706,;ILK,downstream_gene_variant,,ENST00000526711,;ILK,downstream_gene_variant,,ENST00000528784,;TPP1,downstream_gene_variant,,ENST00000524924,;TAF10,downstream_gene_variant,,ENST00000531760,;TPP1,downstream_gene_variant,,ENST00000524611,;ILK,downstream_gene_variant,,ENST00000524735,;TPP1,downstream_gene_variant,,ENST00000532191,;ILK,downstream_gene_variant,,ENST00000530016,;ILK,downstream_gene_variant,,ENST00000526318,;TAF10,non_coding_transcript_exon_variant,,ENST00000526743,;ILK,downstream_gene_variant,,ENST00000526114,;ILK,downstream_gene_variant,,ENST00000527394,;ILK,downstream_gene_variant,,ENST00000527327,;TAF10,downstream_gene_variant,,ENST00000532344,;ILK,downstream_gene_variant,,ENST00000532063,;ILK,downstream_gene_variant,,ENST00000527121,;	1101	141	157	SUCCESS
SPTBN2	6712	.	GRCh37	11	66456306	66456306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	31	0	ENST00000309996.2:c.6049G>T	p.Val2017Leu	p.V2017L	ENST00000309996	NM_006946.2	2017	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS8150.1	6049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACAAGCA	NONE	.	.	Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	31/38	.	.	.	.	.	.	.	.	.	31/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.03)	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Val2017Leu,ENST00000533211,;SPTBN2,missense_variant,p.Val2017Leu,ENST00000309996,;SPTBN2,missense_variant,p.Val2017Leu,ENST00000529997,;SPTBN2,non_coding_transcript_exon_variant,,ENST00000532650,;SPTBN2,non_coding_transcript_exon_variant,,ENST00000532902,;SPTBN2,upstream_gene_variant,,ENST00000530775,;SPTBN2,upstream_gene_variant,,ENST00000528051,;	6381	31	32	SUCCESS
DLG2	1740	.	GRCh37	11	84996347	84996347	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	61	0	ENST00000376104.2:c.103G>C	p.Glu35Gln	p.E35Q	ENST00000376104	NM_001142699.1	35	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS44690.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTATCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119	.	.	ENSP00000365272	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000376104	Transcript	.	.	ENSG00000150672	2901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.52)	.	DLG2_HUMAN	DLG2	HGNC	F8W750_HUMAN,E9PQT9_HUMAN	.	UPI0000E59399	SNV	DLG2,missense_variant,p.Glu35Gln,ENST00000543673,;DLG2,missense_variant,p.Glu35Gln,ENST00000376104,;	415	61	76	SUCCESS
CACNA1C	775	.	GRCh37	12	2613673	2613673	+	intron_variant	Intron	SNP	C	C	T	rs1455190942	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	51	109	0	ENST00000347598.4:c.1114-335C>T		p.*372*	ENST00000347598	NM_199460.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44788.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCGTTCT	NONE	.	.	.	.	.	ENSP00000266376	.	.	.	.	.	.	.	.	.	.	COSM2202737,COSM2202738	.	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODIFIER	7/48	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,synonymous_variant,p.%3D,ENST00000406454,;CACNA1C,synonymous_variant,p.%3D,ENST00000399617,;CACNA1C,synonymous_variant,p.%3D,ENST00000399634,;CACNA1C,synonymous_variant,p.%3D,ENST00000399641,;CACNA1C,synonymous_variant,p.%3D,ENST00000399603,;CACNA1C,intron_variant,,ENST00000399644,;CACNA1C,intron_variant,,ENST00000399595,;CACNA1C,intron_variant,,ENST00000347598,;CACNA1C,intron_variant,,ENST00000402845,;CACNA1C,intron_variant,,ENST00000327702,;CACNA1C,intron_variant,,ENST00000399629,;CACNA1C,intron_variant,,ENST00000480911,;CACNA1C,intron_variant,,ENST00000399601,;CACNA1C,intron_variant,,ENST00000399597,;CACNA1C,intron_variant,,ENST00000399655,;CACNA1C,intron_variant,,ENST00000399606,;CACNA1C,intron_variant,,ENST00000399637,;CACNA1C,intron_variant,,ENST00000335762,;CACNA1C,intron_variant,,ENST00000399621,;CACNA1C,intron_variant,,ENST00000399638,;CACNA1C,intron_variant,,ENST00000399591,;CACNA1C,intron_variant,,ENST00000344100,;CACNA1C,intron_variant,,ENST00000399649,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000491104,;	.	109	131	SUCCESS
OTOGL	283310	.	GRCh37	12	80746079	80746079	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	46	62	1	ENST00000547103.1:c.5207C>A	p.Ser1736Ter	p.S1736*	ENST00000547103		1736	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	.	5243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCACCGG	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	44/58	.	.	.	.	.	.	.	.	.	44/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,stop_gained,p.Ser1748Ter,ENST00000458043,;OTOGL,stop_gained,p.Ser191Ter,ENST00000298820,;OTOGL,stop_gained,p.Ser1736Ter,ENST00000547103,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;	5249	63	78	SUCCESS
DCN	1634	.	GRCh37	12	91552214	91552214	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	106	0	ENST00000052754.5:c.397C>T	p.Arg133Ter	p.R133*	ENST00000052754	NM_001920.3	133	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS9039.1	397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCGTTCCA	CODON|p.R133R|c.399A>G|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00364,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	.	ENSP00000052754	.	4/8	.	.	.	.	.	.	.	.	COSM42740	4/8	PASS	ENST00000052754	Transcript	.	.	ENSG00000011465	2705	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PGS2_HUMAN	DCN	HGNC	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN	.	UPI000013187E	SNV	DCN,stop_gained,p.Arg133Ter,ENST00000547937,;DCN,stop_gained,p.Arg133Ter,ENST00000052754,;DCN,stop_gained,p.Arg133Ter,ENST00000550563,;DCN,stop_gained,p.Arg133Ter,ENST00000552962,;DCN,stop_gained,p.Arg133Ter,ENST00000393155,;DCN,stop_gained,p.Arg133Ter,ENST00000552145,;DCN,intron_variant,,ENST00000228329,;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000456569,;DCN,intron_variant,,ENST00000420120,;DCN,intron_variant,,ENST00000441303,;DCN,intron_variant,,ENST00000425043,;DCN,intron_variant,,ENST00000547568,;DCN,intron_variant,,ENST00000303320,;DCN,downstream_gene_variant,,ENST00000549513,;	899	106	109	SUCCESS
TPTE2	93492	.	GRCh37	13	20025335	20025335	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs370285692	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	52	0	ENST00000400230.2:c.772C>T	p.Arg258Ter	p.R258*	ENST00000400230		258	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS45014.1	772	MUTECT|MUSE	.	GTTTCGATGTT	CODON|p.R181Q|c.542G>A|6,CODON|p.R258Q|c.773G>A|4	byFrequency|byCluster	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	A:0.0001	ENSP00000383089	.	11/20	.	.	.	.	.	.	.	.	rs370285692	11/20	PASS	ENST00000400230	Transcript	.	.	ENSG00000132958	17299	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPTE2_HUMAN	TPTE2	HGNC	.	.	UPI000040738D	SNV	TPTE2,stop_gained,p.Arg258Ter,ENST00000382977,;TPTE2,stop_gained,p.Arg181Ter,ENST00000255310,;TPTE2,stop_gained,p.Arg147Ter,ENST00000457266,;TPTE2,stop_gained,p.Arg218Ter,ENST00000382975,;TPTE2,stop_gained,p.Arg218Ter,ENST00000382978,;TPTE2,stop_gained,p.Arg181Ter,ENST00000390680,;TPTE2,stop_gained,p.Arg147Ter,ENST00000400103,;TPTE2,stop_gained,p.Arg258Ter,ENST00000400230,;TPTE2,stop_gained,p.Arg127Ter,ENST00000462409,;	817	52	57	SUCCESS
FREM2	341640	.	GRCh37	13	39435611	39435611	+	synonymous_variant	Silent	SNP	G	G	C	rs771254172	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	27	40	0	ENST00000280481.7:c.7563G>C	p.Pro2521=	p.P2521=	ENST00000280481	NM_207361.4	2521	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS31960.1	7563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGTTCTC	NONE	byCluster	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	15/24	.	.	.	.	.	.	.	.	rs771254172,COSM4047533	15/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	7779	40	54	SUCCESS
PHF11	51131	.	GRCh37	13	50092193	50092193	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	124	284	0	ENST00000378319.3:c.364T>A	p.Cys122Ser	p.C122S	ENST00000378319	NM_001040443.1	122	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS31975.1	364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGATGTGAT	NONE	.	.	hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF4,Gene3D:3.30.40.10,Pfam_domain:PF13771,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000367570	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000378319	Transcript	.	.	ENSG00000136147	17024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PHF11_HUMAN	PHF11	HGNC	C9JQV2_HUMAN	.	UPI0000070AF0	SNV	PHF11,missense_variant,p.Cys77Ser,ENST00000426879,;PHF11,missense_variant,p.Cys83Ser,ENST00000357596,;PHF11,missense_variant,p.Cys83Ser,ENST00000488958,;PHF11,missense_variant,p.Cys83Ser,ENST00000485919,;PHF11,missense_variant,p.Cys122Ser,ENST00000378319,;PHF11,missense_variant,p.Cys83Ser,ENST00000442195,;PHF11,missense_variant,p.Cys54Ser,ENST00000496612,;PHF11,non_coding_transcript_exon_variant,,ENST00000467763,;PHF11,non_coding_transcript_exon_variant,,ENST00000481509,;PHF11,non_coding_transcript_exon_variant,,ENST00000476953,;PHF11,non_coding_transcript_exon_variant,,ENST00000487433,;PHF11,upstream_gene_variant,,ENST00000495157,;PHF11,upstream_gene_variant,,ENST00000460489,;PHF11,upstream_gene_variant,,ENST00000488605,;PHF11,missense_variant,p.Cys83Ser,ENST00000465045,;PHF11,non_coding_transcript_exon_variant,,ENST00000496623,;PHF11,non_coding_transcript_exon_variant,,ENST00000482487,;	405	284	277	SUCCESS
GPR183	1880	.	GRCh37	13	99947771	99947771	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749630082	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	4	106	0	ENST00000376414.4:c.629T>C	p.Ile210Thr	p.I210T	ENST00000376414	NM_004951.4	210	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS9492.1	629	MUTECT|MUSE	.	TGATTATAAGT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24237:SF7,hmmpanther:PTHR24237,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000365596	.	2/2	.	.	.	.	.	.	.	.	rs749630082	2/2	PASS	ENST00000376414	Transcript	.	.	ENSG00000169508	3128	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.09)	.	GP183_HUMAN	GPR183	HGNC	.	.	UPI0000001068	SNV	GPR183,missense_variant,p.Ile210Thr,ENST00000376414,;UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000473091,;UBAC2,intron_variant,,ENST00000468067,;	713	106	106	SUCCESS
PSMB11	122706	.	GRCh37	14	23512092	23512092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	64	0	ENST00000408907.2:c.658G>A	p.Gly220Arg	p.G220R	ENST00000408907	NM_001099780.1	220	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS41923.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGGGGGC	NONE	.	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599:SF48,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235,Prints_domain:PR00141	.	.	ENSP00000386212	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408907	Transcript	.	.	ENSG00000222028	31963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PSB11_HUMAN	PSMB11	HGNC	.	.	UPI00001D7B85	SNV	PSMB11,missense_variant,p.Gly220Arg,ENST00000408907,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000487137,;CDH24,downstream_gene_variant,,ENST00000397359,;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000485922,;	717	64	39	SUCCESS
MYH6	4624	.	GRCh37	14	23869968	23869968	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1425571023	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	48	99	0	ENST00000356287.3:c.1360C>T	p.Arg454Cys	p.R454C	ENST00000356287		454	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS9600.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGTGGCT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	13/39	.	.	.	.	.	.	.	.	COSM1582269	13/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.985)	.	deleterious(0)	1	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Arg454Cys,ENST00000405093,;MYH6,missense_variant,p.Arg454Cys,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;	1431	99	100	SUCCESS
LRRC16B	0	.	GRCh37	14	24530143	24530143	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	47	0	ENST00000342740.5:c.2198C>G	p.Pro733Arg	p.P733R	ENST00000342740	NM_138360.3	733	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS32054.1	2198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCCCAGCC	NONE	.	.	hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF32	.	.	ENSP00000340467	.	26/40	.	.	.	.	.	.	.	.	.	26/40	PASS	ENST00000342740	Transcript	.	.	ENSG00000186648	20272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	LR16B_HUMAN	LRRC16B	HGNC	.	.	UPI0000DBEF11	SNV	LRRC16B,missense_variant,p.Pro733Arg,ENST00000342740,;LRRC16B,5_prime_UTR_variant,,ENST00000334420,;LRRC16B,non_coding_transcript_exon_variant,,ENST00000561354,;LRRC16B,non_coding_transcript_exon_variant,,ENST00000559694,;LRRC16B,upstream_gene_variant,,ENST00000560349,;	2352	47	45	SUCCESS
SYNE2	23224	.	GRCh37	14	64653174	64653174	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	61	140	0	ENST00000344113.4:c.17589G>A	p.Gln5863=	p.Q5863=	ENST00000344113	NM_015180.4	5863	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS9761.2	17589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGAACTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	97/116	.	.	.	.	.	.	.	.	.	97/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000394768,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,synonymous_variant,p.%3D,ENST00000357395,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000555002,;SYNE2,intron_variant,,ENST00000554584,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,synonymous_variant,p.%3D,ENST00000553289,;SYNE2,synonymous_variant,p.%3D,ENST00000555612,;	17819	140	148	SUCCESS
PLEKHH1	57475	.	GRCh37	14	68042127	68042127	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	77	0	ENST00000329153.5:c.2107A>C	p.Lys703Gln	p.K703Q	ENST00000329153	NM_020715.2	703	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS45128.1	2107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAAGGTG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000330278	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000329153	Transcript	.	.	ENSG00000054690	17733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PKHH1_HUMAN	PLEKHH1	HGNC	B3KWD2_HUMAN	.	UPI00001C1F64	SNV	PLEKHH1,missense_variant,p.Lys703Gln,ENST00000329153,;PLEKHH1,upstream_gene_variant,,ENST00000417684,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558981,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,upstream_gene_variant,,ENST00000558296,;PLEKHH1,upstream_gene_variant,,ENST00000561370,;PLEKHH1,downstream_gene_variant,,ENST00000561135,;PLEKHH1,upstream_gene_variant,,ENST00000560100,;PLEKHH1,downstream_gene_variant,,ENST00000561456,;	2239	77	66	SUCCESS
SYNDIG1L	646658	.	GRCh37	14	74876360	74876360	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	53	106	0	ENST00000331628.3:c.88C>G	p.Pro30Ala	p.P30A	ENST00000331628	NM_001105579.1	30	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS41970.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGTGGGG	NONE	.	.	hmmpanther:PTHR14768:SF4,hmmpanther:PTHR14768	.	.	ENSP00000331474	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000331628	Transcript	.	.	ENSG00000183379	32388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.1)	.	SYN1L_HUMAN	SYNDIG1L	HGNC	G3V402_HUMAN	.	UPI0000D6242F	SNV	SYNDIG1L,missense_variant,p.Pro30Ala,ENST00000554823,;SYNDIG1L,missense_variant,p.Pro30Ala,ENST00000331628,;SYNDIG1L,missense_variant,p.Pro30Ala,ENST00000554953,;	336	106	109	SUCCESS
NDN	4692	.	GRCh37	15	23932089	23932089	+	synonymous_variant	Silent	SNP	C	C	A	rs748276612	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	34	0	ENST00000331837.4:c.276G>T	p.Pro92=	p.P92=	ENST00000331837	NM_002487.2	92	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10014.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGCGGTGC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF10,Low_complexity_(Seg):seg	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	rs748276612	1/1	PASS	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,synonymous_variant,p.%3D,ENST00000331837,;	362	34	33	SUCCESS
GABRA5	2558	.	GRCh37	15	27114328	27114328	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	35	0	ENST00000335625.5:c.-68G>C		p.*23*	ENST00000335625	NM_000810.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45194.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGAACAA	NONE	.	.	.	.	.	ENSP00000335592	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,5_prime_UTR_variant,,ENST00000355395,;GABRA5,5_prime_UTR_variant,,ENST00000555060,;GABRA5,5_prime_UTR_variant,,ENST00000554038,;GABRA5,5_prime_UTR_variant,,ENST00000335625,;GABRA5,5_prime_UTR_variant,,ENST00000554596,;GABRA5,5_prime_UTR_variant,,ENST00000554599,;GABRA5,5_prime_UTR_variant,,ENST00000400081,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,intron_variant,,ENST00000555182,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557484,;	821	35	26	SUCCESS
NUSAP1	51203	.	GRCh37	15	41657598	41657598	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs980770561	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	37	0	ENST00000559596.1:c.661-2A>T		p.X221_splice	ENST00000559596		221		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45234.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGCAGC	NONE	.	.	.	.	.	ENSP00000453403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000559596	Transcript	.	.	ENSG00000137804	18538	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUSAP_HUMAN	NUSAP1	HGNC	.	.	UPI0000072C6B	SNV	NUSAP1,splice_acceptor_variant,,ENST00000560177,;NUSAP1,splice_acceptor_variant,,ENST00000559596,;NUSAP1,splice_acceptor_variant,,ENST00000260359,;NUSAP1,splice_acceptor_variant,,ENST00000450318,;NUSAP1,splice_region_variant,,ENST00000414849,;NUSAP1,splice_region_variant,,ENST00000560747,;NUSAP1,splice_region_variant,,ENST00000450592,;NUSAP1,splice_acceptor_variant,,ENST00000558123,;NUSAP1,splice_region_variant,,ENST00000560898,;NUSAP1,intron_variant,,ENST00000557840,;NUSAP1,upstream_gene_variant,,ENST00000560318,;	.	37	64	SUCCESS
RCN2	5955	.	GRCh37	15	77236169	77236169	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	127	212	0	ENST00000394885.3:c.518A>G	p.Glu173Gly	p.E173G	ENST00000394885	NM_002902.2	173	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10291.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGAATTTA	NONE	.	.	hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF32,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Superfamily_domains:SSF47473	.	.	ENSP00000378349	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000394885	Transcript	.	.	ENSG00000117906	9935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RCN2_HUMAN	RCN2	HGNC	.	.	UPI0000000C65	SNV	RCN2,missense_variant,p.Glu191Gly,ENST00000320963,;RCN2,missense_variant,p.Glu173Gly,ENST00000394885,;RCN2,missense_variant,p.Glu72Gly,ENST00000394883,;RCN2,3_prime_UTR_variant,,ENST00000557805,;RCN2,non_coding_transcript_exon_variant,,ENST00000558598,;RCN2,non_coding_transcript_exon_variant,,ENST00000560833,;	741	212	264	SUCCESS
NTRK3	4916	.	GRCh37	15	88476268	88476268	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	88	0	ENST00000360948.2:c.1864C>A	p.His622Asn	p.H622N	ENST00000360948	NM_001012338.2	622	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS32322.1	1864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGCTTCA	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000354207	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.08)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.His614Asn,ENST00000558676,;NTRK3,missense_variant,p.His19Asn,ENST00000558576,;NTRK3,missense_variant,p.His614Asn,ENST00000557856,;NTRK3,missense_variant,p.His622Asn,ENST00000394480,;NTRK3,missense_variant,p.His524Asn,ENST00000542733,;NTRK3,missense_variant,p.His614Asn,ENST00000357724,;NTRK3,missense_variant,p.His622Asn,ENST00000355254,;NTRK3,missense_variant,p.His622Asn,ENST00000360948,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;	2026	88	73	SUCCESS
ITGAD	3681	.	GRCh37	16	31422694	31422694	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	53	92	0	ENST00000389202.2:c.1563G>A	p.Gly521=	p.G521=	ENST00000389202	NM_005353.2	521	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32438.1	1563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGGCAGC	NONE	.	.	Prints_domain:PR01185,Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS51470	.	.	ENSP00000373854	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,synonymous_variant,p.%3D,ENST00000389202,;ITGAD,downstream_gene_variant,,ENST00000444228,;	1612	92	106	SUCCESS
CNOT1	23019	.	GRCh37	16	58579334	58579334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	95	138	0	ENST00000317147.5:c.4068G>T	p.Gln1356His	p.Q1356H	ENST00000317147	NM_016284.4	1356	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS10799.1	4068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTACTGTGG	NONE	.	.	hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162	.	.	ENSP00000320949	.	30/49	.	.	.	.	.	.	.	.	.	30/49	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	tolerated(0.25)	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	SNV	CNOT1,missense_variant,p.Gln1356His,ENST00000317147,;CNOT1,missense_variant,p.Gln1351His,ENST00000569240,;CNOT1,missense_variant,p.Gln1356His,ENST00000441024,;CNOT1,missense_variant,p.Gln207His,ENST00000245138,;CNOT1,missense_variant,p.Gln63His,ENST00000567133,;CNOT1,downstream_gene_variant,,ENST00000567285,;SNORA46,downstream_gene_variant,,ENST00000384762,;CNOT1,missense_variant,p.Gln1351His,ENST00000567188,;CNOT1,upstream_gene_variant,,ENST00000566240,;	4401	138	169	SUCCESS
CAPN15	6650	.	GRCh37	16	601629	601629	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs534348403	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	33	0	ENST00000219611.2:c.2310G>C	p.Glu770Asp	p.E770D	ENST00000219611	NM_005632.2	770	gaG/gaC	0	.	A:0.0015	.	A:0	.	C	E/D	protein_coding	YES	CCDS10410.1	2310	RADIA|MUTECT|MUSE	.	AGTGAGGGTGT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	A:0	.	ENSP00000219611	A:0	9/14	.	.	.	.	.	.	.	.	rs534348403	9/14	PASS	ENST00000219611	Transcript	.	A:0.0004	ENSG00000103326	11182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.524)	A:0	tolerated(0.21)	.	CAN15_HUMAN	CAPN15	HGNC	H3BR03_HUMAN	.	UPI0000071B68	SNV	CAPN15,missense_variant,p.Glu770Asp,ENST00000219611,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,downstream_gene_variant,,ENST00000562370,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	2673	33	27	SUCCESS
WASH4P	374677	.	GRCh37	16	66949	66949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	27	143	0	ENST00000326592.9:c.687G>T	p.Leu229Phe	p.L229F	ENST00000326592		229	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	.	687	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACAAGGG	NONE	.	.	hmmpanther:PTHR23331:SF1,hmmpanther:PTHR23331,Pfam_domain:PF11945	.	.	ENSP00000317542	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000326592	Transcript	.	.	ENSG00000234769	14126	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.451)	.	tolerated(0.22)	.	WASH4_HUMAN	WASH4P	HGNC	H3BUR0_HUMAN	.	UPI000066D93A	SNV	WASH4P,missense_variant,p.Leu229Phe,ENST00000326592,;Z84812.4,downstream_gene_variant,,ENST00000568710,;DDX11L10,downstream_gene_variant,,ENST00000513886,;WASH4P,missense_variant,p.Leu217Phe,ENST00000483390,;WASH4P,3_prime_UTR_variant,,ENST00000462860,;WASH4P,3_prime_UTR_variant,,ENST00000538848,;WASH4P,3_prime_UTR_variant,,ENST00000495251,;WASH4P,non_coding_transcript_exon_variant,,ENST00000477365,;WASH4P,non_coding_transcript_exon_variant,,ENST00000468574,;WASH4P,non_coding_transcript_exon_variant,,ENST00000564273,;WASH4P,non_coding_transcript_exon_variant,,ENST00000470725,;WASH4P,upstream_gene_variant,,ENST00000487568,;WASH4P,upstream_gene_variant,,ENST00000470283,;WASH4P,upstream_gene_variant,,ENST00000474799,;WASH4P,downstream_gene_variant,,ENST00000494585,;DDX11L10,downstream_gene_variant,,ENST00000545636,;DDX11L10,downstream_gene_variant,,ENST00000430178,;	1346	143	129	SUCCESS
FAM65A	0	.	GRCh37	16	67580287	67580287	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146731217	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	33	0	ENST00000422602.2:c.3641C>T	p.Ala1214Val	p.A1214V	ENST00000422602	NM_001193523.1	1214	gCc/gTc	0	T:0.0002	.	.	.	.	T	A/V	protein_coding	YES	CCDS54026.1	3641	MUTECT|MUSE	.	GTCTGCCCATC	NONE	byCluster	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1,Gene3D:1.25.10.10	.	T:0	ENSP00000400099	.	22/22	.	.	.	.	.	.	.	.	rs146731217	22/22	PASS	ENST00000422602	Transcript	.	.	ENSG00000039523	25836	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.787)	.	deleterious(0)	.	FA65A_HUMAN	FAM65A	HGNC	H3BQI5_HUMAN,H3BV02_HUMAN,H3BUP6_HUMAN,H3BSV5_HUMAN,H3BS40_HUMAN	.	UPI0001AE68C6	SNV	FAM65A,missense_variant,p.Ala1208Val,ENST00000428437,;FAM65A,missense_variant,p.Ala1214Val,ENST00000422602,;FAM65A,missense_variant,p.Ala1213Val,ENST00000540839,;FAM65A,missense_variant,p.Ala1194Val,ENST00000042381,;FAM65A,missense_variant,p.Ala1198Val,ENST00000379312,;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000569179,;FAM65A,downstream_gene_variant,,ENST00000568959,;CTD-2012K14.6,downstream_gene_variant,,ENST00000565929,;CTD-2012K14.6,downstream_gene_variant,,ENST00000605277,;CTD-2012K14.4,upstream_gene_variant,,ENST00000564717,;CTD-2012K14.3,upstream_gene_variant,,ENST00000563083,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,downstream_gene_variant,,ENST00000565190,;FAM65A,downstream_gene_variant,,ENST00000561534,;FAM65A,downstream_gene_variant,,ENST00000565679,;FAM65A,downstream_gene_variant,,ENST00000569474,;FAM65A,downstream_gene_variant,,ENST00000566815,;FAM65A,downstream_gene_variant,,ENST00000566730,;FAM65A,downstream_gene_variant,,ENST00000564616,;	3737	33	43	SUCCESS
TAT	6898	.	GRCh37	16	71604715	71604715	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	49	106	0	ENST00000355962.4:c.779A>G	p.Tyr260Cys	p.Y260C	ENST00000355962	NM_000353.2	260	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10903.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATATTTG	NONE	.	.	hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	.	.	ENSP00000348234	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.03)	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	SNV	TAT,missense_variant,p.Tyr260Cys,ENST00000355962,;RP11-432I5.1,intron_variant,,ENST00000561529,;TAT,downstream_gene_variant,,ENST00000566010,;TAT,upstream_gene_variant,,ENST00000564007,;TAT,downstream_gene_variant,,ENST00000566094,;	913	106	108	SUCCESS
C17orf66	0	.	GRCh37	17	34192249	34192249	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1376221810	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	51	87	0	ENST00000311880.2:c.290A>T	p.Lys97Met	p.K97M	ENST00000311880	NM_152781.2	97	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS11299.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTTCTCA	NONE	.	.	hmmpanther:PTHR12697	.	.	ENSP00000309560	.	3/15	.	.	.	.	.	.	.	.	COSM4065636,COSM4065637	3/15	PASS	ENST00000311880	Transcript	.	.	ENSG00000172653	26548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.935)	.	deleterious(0)	1,1	CQ066_HUMAN	C17orf66	HGNC	.	.	UPI000013F215	SNV	C17orf66,missense_variant,p.Lys97Met,ENST00000311880,;C17orf66,missense_variant,p.Lys97Met,ENST00000587626,;C17orf66,missense_variant,p.Lys97Met,ENST00000592980,;TAF15,downstream_gene_variant,,ENST00000586593,;AC015849.2,upstream_gene_variant,,ENST00000413928,;C17orf66,non_coding_transcript_exon_variant,,ENST00000587585,;C17orf66,missense_variant,p.Lys63Met,ENST00000589015,;C17orf66,missense_variant,p.Lys63Met,ENST00000587573,;C17orf66,missense_variant,p.Lys97Met,ENST00000585840,;C17orf66,non_coding_transcript_exon_variant,,ENST00000462028,;TAF15,downstream_gene_variant,,ENST00000586104,;AC015849.14,upstream_gene_variant,,ENST00000589274,;	439	87	113	SUCCESS
KRTAP1-3	81850	.	GRCh37	17	39191019	39191019	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	96	90	0	ENST00000344363.5:c.55A>G	p.Thr19Ala	p.T19A	ENST00000344363	NM_030966.1	19	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS42323.1	55	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGTCCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF45,hmmpanther:PTHR23262,Pfam_domain:PF01500	.	.	ENSP00000344420	.	1/1	.	.	.	.	.	.	.	.	COSM4066284	1/1	PASS	ENST00000344363	Transcript	.	.	ENSG00000221880	16771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated(0.06)	1	KRA13_HUMAN	KRTAP1-3	HGNC	.	.	UPI000006DC17	SNV	KRTAP1-3,missense_variant,p.Thr19Ala,ENST00000344363,;KRTAP1-4,upstream_gene_variant,,ENST00000377747,;	89	90	131	SUCCESS
MPP3	4356	.	GRCh37	17	41898313	41898313	+	synonymous_variant	Silent	SNP	G	G	A	rs377033537	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	37	86	0	ENST00000398389.4:c.798C>T	p.Asp266=	p.D266=	ENST00000398389	NM_001932.4	266	gaC/gaT	0	T:0	.	.	.	.	A	D	protein_coding	YES	CCDS42344.1	798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCGTCCTG	NONE	byCluster	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF07653,Gene3D:2.30.30.40,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF33,PROSITE_profiles:PS50002	.	T:0.0001	ENSP00000381425	.	11/20	.	.	.	.	.	.	.	.	rs377033537	11/20	PASS	ENST00000398389	Transcript	.	.	ENSG00000161647	7221	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP3_HUMAN	MPP3	HGNC	.	.	UPI0000167B23	SNV	MPP3,synonymous_variant,p.%3D,ENST00000398393,;MPP3,synonymous_variant,p.%3D,ENST00000398389,;MPP3,synonymous_variant,p.%3D,ENST00000496503,;MPP3,non_coding_transcript_exon_variant,,ENST00000589375,;MPP3,downstream_gene_variant,,ENST00000480958,;MPP3,upstream_gene_variant,,ENST00000479797,;	964	86	137	SUCCESS
LSM12	124801	.	GRCh37	17	42144008	42144008	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	26	49	0	ENST00000293406.3:c.-53G>A		p.*18*	ENST00000293406				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11475.1	.	MUTECT|MUSE|VARSCANS	.	AAAGCCGGGCC	NONE	.	.	.	.	.	ENSP00000466718	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000591247	Transcript	.	.	ENSG00000161654	26407	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LSM12_HUMAN	LSM12	HGNC	.	.	UPI0000021A76	SNV	LSM12,5_prime_UTR_variant,,ENST00000293406,;LSM12,5_prime_UTR_variant,,ENST00000585388,;LSM12,5_prime_UTR_variant,,ENST00000591247,;G6PC3,upstream_gene_variant,,ENST00000269097,;G6PC3,upstream_gene_variant,,ENST00000591696,;G6PC3,upstream_gene_variant,,ENST00000585962,;G6PC3,upstream_gene_variant,,ENST00000585361,;G6PC3,upstream_gene_variant,,ENST00000588558,;G6PC3,upstream_gene_variant,,ENST00000590639,;G6PC3,upstream_gene_variant,,ENST00000593115,;	271	49	114	SUCCESS
TBC1D16	125058	.	GRCh37	17	77921567	77921567	+	synonymous_variant	Silent	SNP	G	G	A	rs756414717	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	91	0	ENST00000310924.2:c.1605C>T	p.Asp535=	p.D535=	ENST00000310924	NM_019020.3	535	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS11766.1	1605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTCCGA	NONE	.	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Gene3D:2qq8A02,Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF191,PROSITE_profiles:PS50086	.	.	ENSP00000309794	.	9/12	.	.	.	.	.	.	.	.	rs756414717	9/12	PASS	ENST00000310924	Transcript	.	.	ENSG00000167291	28356	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC16_HUMAN	TBC1D16	HGNC	I3L0U9_HUMAN,B9A6L7_HUMAN	.	UPI000006DDA6	SNV	TBC1D16,synonymous_variant,p.%3D,ENST00000570373,;TBC1D16,synonymous_variant,p.%3D,ENST00000573782,;TBC1D16,synonymous_variant,p.%3D,ENST00000574241,;TBC1D16,synonymous_variant,p.%3D,ENST00000310924,;TBC1D16,synonymous_variant,p.%3D,ENST00000340848,;TBC1D16,synonymous_variant,p.%3D,ENST00000572862,;TBC1D16,synonymous_variant,p.%3D,ENST00000574427,;TBC1D16,synonymous_variant,p.%3D,ENST00000576768,;TBC1D16,downstream_gene_variant,,ENST00000571872,;	1721	91	117	SUCCESS
ZNF516	9658	.	GRCh37	18	74153982	74153982	+	synonymous_variant	Silent	SNP	C	C	A	rs768578611	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	39	0	ENST00000443185.2:c.1029G>T	p.Leu343=	p.L343=	ENST00000443185	NM_014643.3	343	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	.	1029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAACAGGTT	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,PROSITE_patterns:PS00028,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3,PROSITE_profiles:PS50157	.	.	ENSP00000394757	.	3/8	.	.	.	.	.	.	.	.	rs768578611	3/8	PASS	ENST00000443185	Transcript	.	.	ENSG00000101493	28990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN516_HUMAN	ZNF516	HGNC	F5H2K2_HUMAN	.	UPI00001394A1	SNV	ZNF516,synonymous_variant,p.%3D,ENST00000443185,;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	1347	39	45	SUCCESS
MYO9B	4650	.	GRCh37	19	17298768	17298768	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	48	0	ENST00000594824.1:c.2602del	p.Leu868TrpfsTer57	p.L868Wfs*57	ENST00000594824		868	Ctg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS46010.1	2602	INDELOCATOR*|VARSCANI*|PINDEL	.	GACGAGCTGGTC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000471457	.	19/40	.	.	.	.	.	.	.	.	.	19/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	deletion	MYO9B,frameshift_variant,p.Leu160TrpfsTer?,ENST00000602177,;MYO9B,frameshift_variant,p.Leu868TrpfsTer57,ENST00000595641,;MYO9B,frameshift_variant,p.Leu868TrpfsTer57,ENST00000397274,;MYO9B,frameshift_variant,p.Leu868TrpfsTer57,ENST00000595618,;MYO9B,frameshift_variant,p.Leu868TrpfsTer57,ENST00000594824,;MYO9B,downstream_gene_variant,,ENST00000594971,;MYO9B,downstream_gene_variant,,ENST00000601749,;MYO9B,downstream_gene_variant,,ENST00000601490,;MYO9B,downstream_gene_variant,,ENST00000598101,;MYO9B,downstream_gene_variant,,ENST00000598464,;	2754	48	82	SUCCESS
ZNF506	440515	.	GRCh37	19	19905517	19905544	+	frameshift_variant	Frame_Shift_Del	DEL	TCCAGTATGAATTATCTTATGTTCAGTT	TCCAGTATGAATTATCTTATGTTCAGTT	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	TCCAGTATGAATTATCTTATGTTCAGTT	TCCAGTATGAATTATCTTATGTTCAGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	59	0	ENST00000443905.2:c.1152_1179del	p.Thr385ArgfsTer33	p.T385Rfs*33	ENST00000443905		384	ctAACTGAACATAAGATAATTCATACTGGA/ct	0	.	.	.	.	.	-	LTEHKIIHTG/X	protein_coding	YES	CCDS42531.1	1152-1179	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTCTCCAGTATGAATTATCTTATGTTCAGTTAGAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF82,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000393835	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000443905	Transcript	.	.	ENSG00000081665	23780	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN506_HUMAN	ZNF506	HGNC	K7ERD0_HUMAN	.	UPI00001B6472	deletion	ZNF506,frameshift_variant,p.Thr353ArgfsTer33,ENST00000450683,;ZNF506,frameshift_variant,p.Thr385ArgfsTer33,ENST00000443905,;ZNF506,frameshift_variant,p.Thr385ArgfsTer33,ENST00000540806,;ZNF506,intron_variant,,ENST00000590766,;ZNF506,intron_variant,,ENST00000587461,;ZNF506,downstream_gene_variant,,ENST00000590319,;ZNF506,downstream_gene_variant,,ENST00000587452,;ZNF506,downstream_gene_variant,,ENST00000545006,;CTC-559E9.4,intron_variant,,ENST00000590274,;CTC-559E9.6,intron_variant,,ENST00000591884,;CTC-559E9.6,intron_variant,,ENST00000589657,;CTC-559E9.5,upstream_gene_variant,,ENST00000590697,;ZNF506,frameshift_variant,p.Thr385ArgfsTer33,ENST00000591639,;ZNF506,intron_variant,,ENST00000586260,;ZNF506,downstream_gene_variant,,ENST00000587822,;	1300-1327	59	62	SUCCESS
ZNF93	81931	.	GRCh37	19	20044590	20044590	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	39	64	0	ENST00000343769.5:c.826A>T	p.Lys276Ter	p.K276*	ENST00000343769	NM_031218.3	276	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS32973.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATAAGAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF270,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000342002	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343769	Transcript	.	.	ENSG00000184635	13169	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF93_HUMAN	ZNF93	HGNC	K7EPV7_HUMAN,B4DJ46_HUMAN	.	UPI00002263B9	SNV	ZNF93,stop_gained,p.Lys276Ter,ENST00000343769,;AC007204.1,downstream_gene_variant,,ENST00000595282,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,;	854	64	73	SUCCESS
ZBTB32	27033	.	GRCh37	19	36207625	36207625	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769286077	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	36	0	ENST00000262630.3:c.1435C>A	p.Pro479Thr	p.P479T	ENST00000262630	NM_014383.1	479	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS12471.1	1435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCCCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389:SF456,hmmpanther:PTHR11389	.	.	ENSP00000376035	.	7/7	.	.	.	.	.	.	.	.	rs769286077	7/7	PASS	ENST00000392197	Transcript	.	.	ENSG00000011590	16763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	ZBT32_HUMAN	ZBTB32	HGNC	K7EMJ1_HUMAN	.	UPI0000038C8C	SNV	ZBTB32,missense_variant,p.Pro479Thr,ENST00000392197,;ZBTB32,missense_variant,p.Pro479Thr,ENST00000262630,;KMT2B,upstream_gene_variant,,ENST00000222270,;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,upstream_gene_variant,,ENST00000341701,;KMT2B,upstream_gene_variant,,ENST00000420124,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000442282,;KMT2B,upstream_gene_variant,,ENST00000607650,;ZBTB32,downstream_gene_variant,,ENST00000451726,;ZBTB32,3_prime_UTR_variant,,ENST00000481182,;	1753	36	31	SUCCESS
KMT2B	9757	.	GRCh37	19	36213570	36213570	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	37	74	0	ENST00000222270.7:c.2672C>G	p.Pro891Arg	p.P891R	ENST00000222270	NM_014727.1	891	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS46055.1	2672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCTCGCC	NONE	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	5/37	.	.	.	.	.	.	.	.	.	5/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Pro891Arg,ENST00000420124,;KMT2B,missense_variant,p.Pro891Arg,ENST00000222270,;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;	2672	74	73	SUCCESS
KMT2B	9757	.	GRCh37	19	36219050	36219050	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1459799356	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	57	0	ENST00000222270.7:c.4549C>T	p.Arg1517Ter	p.R1517*	ENST00000222270	NM_014727.1	1517	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46055.1	4549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCGACGG	NONE	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	19/37	.	.	.	.	.	.	.	.	COSM3692667	19/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,stop_gained,p.Arg1517Ter,ENST00000420124,;KMT2B,stop_gained,p.Arg1517Ter,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;	4549	57	59	SUCCESS
GLTSCR1	0	.	GRCh37	19	48204913	48204913	+	synonymous_variant	Silent	SNP	C	C	T	rs1212491235	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	77	145	0	ENST00000396720.3:c.3924C>T	p.Leu1308=	p.L1308=	ENST00000396720	NM_015711.3	1308	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46134.1	3924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCAAGCT	NONE	.	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572	.	.	ENSP00000379946	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,non_coding_transcript_exon_variant,,ENST00000602258,;	4118	145	152	SUCCESS
ARRDC5	645432	.	GRCh37	19	4896768	4896768	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	72	156	0	ENST00000381781.2:c.416T>C	p.Met139Thr	p.M139T	ENST00000381781	NM_001080523.1	139	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS45929.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCATGCAG	NONE	.	.	hmmpanther:PTHR11188:SF56,hmmpanther:PTHR11188,Pfam_domain:PF00339,Superfamily_domains:SSF81296	.	.	ENSP00000371200	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000381781	Transcript	.	.	ENSG00000205784	31407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.39)	.	ARRD5_HUMAN	ARRDC5	HGNC	.	.	UPI0000DD84C9	SNV	ARRDC5,missense_variant,p.Met139Thr,ENST00000381781,;	416	156	146	SUCCESS
ZNF321P	399669	.	GRCh37	19	53432594	53432594	+	synonymous_variant	Silent	SNP	C	C	T	rs768176214	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	61	0	ENST00000391777.3:c.264G>A	p.Gly88=	p.G88=	ENST00000391777		88	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS56101.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTCCCTGT	NONE	byFrequency	.	hmmpanther:PTHR24407:SF13,hmmpanther:PTHR24407,PROSITE_profiles:PS50805	.	.	ENSP00000375656	.	4/4	.	.	.	.	.	.	.	.	rs768176214	4/4	PASS	ENST00000391777	Transcript	.	.	ENSG00000221874	13827	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN321_HUMAN	ZNF321P	HGNC	.	.	UPI000041A073	SNV	ZNF321P,synonymous_variant,p.%3D,ENST00000391777,;ZNF816,synonymous_variant,p.%3D,ENST00000434371,;ZNF816,synonymous_variant,p.%3D,ENST00000549216,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000313956,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000550843,;	386	61	59	SUCCESS
ZNF835	90485	.	GRCh37	19	57175001	57175001	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	101	0	ENST00000537055.2:c.1566T>C	p.Cys522=	p.C522=	ENST00000537055	NM_001005850.2	522	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS56105.1	1566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGACAGGT	NONE	.	.	.	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,synonymous_variant,p.%3D,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1798	101	99	SUCCESS
ZNF559-ZNF177	100529215	.	GRCh37	19	9488995	9488995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	126	264	0	ENST00000541595.2:c.8C>A	p.Ala3Glu	p.A3E	ENST00000541595	NM_001172650.2	3	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS54214.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCAGGGT	NONE	.	.	.	.	.	ENSP00000415070	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000434737	Transcript	.	.	ENSG00000188629	12966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	deleterious(0.05)	.	ZN177_HUMAN	ZNF177	HGNC	.	.	UPI0001AE6431	SNV	ZNF177,missense_variant,p.Ala3Glu,ENST00000434737,;ZNF177,missense_variant,p.Ala3Glu,ENST00000592912,;ZNF177,missense_variant,p.Ala3Glu,ENST00000590616,;ZNF177,missense_variant,p.Ala3Glu,ENST00000589262,;ZNF177,missense_variant,p.Ala3Glu,ENST00000343499,;ZNF559-ZNF177,missense_variant,p.Ala3Glu,ENST00000446085,;ZNF177,missense_variant,p.Ala3Glu,ENST00000602856,;ZNF559-ZNF177,missense_variant,p.Ala3Glu,ENST00000603656,;ZNF177,missense_variant,p.Ala3Glu,ENST00000602738,;ZNF559-ZNF177,missense_variant,p.Ala3Glu,ENST00000541595,;ZNF559-ZNF177,non_coding_transcript_exon_variant,,ENST00000605471,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000593242,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000605775,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000604543,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000603974,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000604886,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000605093,;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000605006,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603024,;	64	264	277	SUCCESS
ATP8B2	57198	.	GRCh37	1	154318730	154318730	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1248313118	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	37	104	0	ENST00000368489.3:c.2901G>A	p.Met967Ile	p.M967I	ENST00000368489	NM_020452.3	967	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1066.1	2901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGGAGTA	NONE	.	.	hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000357475	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000368489	Transcript	.	.	ENSG00000143515	13534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.18)	.	AT8B2_HUMAN	ATP8B2	HGNC	Q6P3T1_HUMAN	.	UPI00001B92AB	SNV	ATP8B2,missense_variant,p.Met967Ile,ENST00000368489,;ATP8B2,downstream_gene_variant,,ENST00000341822,;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,upstream_gene_variant,,ENST00000505882,;	2901	104	143	SUCCESS
TMEM79	84283	.	GRCh37	1	156261286	156261286	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	56	0	ENST00000295694.5:c.1082T>C	p.Phe361Ser	p.F361S	ENST00000295694		361	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS1138.1	1082	RADIA|MUTECT|MUSE	.	CATGTTCGTGG	NONE	.	.	Transmembrane_helices:TMhelix,Gene3D:1.20.120.550,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	.	.	ENSP00000384748	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000405535	Transcript	.	.	ENSG00000163472	28196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,missense_variant,p.Phe361Ser,ENST00000405535,;TMEM79,missense_variant,p.Phe361Ser,ENST00000295694,;TMEM79,synonymous_variant,p.%3D,ENST00000357501,;TMEM79,synonymous_variant,p.%3D,ENST00000456810,;C1orf85,downstream_gene_variant,,ENST00000362007,;C1orf85,downstream_gene_variant,,ENST00000481050,;TMEM79,non_coding_transcript_exon_variant,,ENST00000463670,;C1orf85,non_coding_transcript_exon_variant,,ENST00000497831,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;C1orf85,non_coding_transcript_exon_variant,,ENST00000480968,;TMEM79,non_coding_transcript_exon_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000482579,;C1orf85,intron_variant,,ENST00000461597,;C1orf85,intron_variant,,ENST00000472870,;C1orf85,downstream_gene_variant,,ENST00000476177,;C1orf85,downstream_gene_variant,,ENST00000368264,;C1orf85,downstream_gene_variant,,ENST00000479084,;C1orf85,downstream_gene_variant,,ENST00000497955,;C1orf85,downstream_gene_variant,,ENST00000484214,;	1253	56	81	SUCCESS
TMEM79	84283	.	GRCh37	1	156261289	156261289	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	57	0	ENST00000295694.5:c.1085T>C	p.Val362Ala	p.V362A	ENST00000295694		362	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1138.1	1085	RADIA|MUTECT|MUSE	.	GTTCGTGGTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	.	.	ENSP00000384748	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000405535	Transcript	.	.	ENSG00000163472	28196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.07)	.	TMM79_HUMAN	TMEM79	HGNC	.	.	UPI000006F977	SNV	TMEM79,missense_variant,p.Val362Ala,ENST00000405535,;TMEM79,missense_variant,p.Val362Ala,ENST00000295694,;TMEM79,synonymous_variant,p.%3D,ENST00000357501,;TMEM79,synonymous_variant,p.%3D,ENST00000456810,;C1orf85,downstream_gene_variant,,ENST00000362007,;C1orf85,downstream_gene_variant,,ENST00000481050,;TMEM79,non_coding_transcript_exon_variant,,ENST00000463670,;C1orf85,non_coding_transcript_exon_variant,,ENST00000497831,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;C1orf85,non_coding_transcript_exon_variant,,ENST00000480968,;TMEM79,non_coding_transcript_exon_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000482579,;C1orf85,intron_variant,,ENST00000461597,;C1orf85,intron_variant,,ENST00000472870,;C1orf85,downstream_gene_variant,,ENST00000476177,;C1orf85,downstream_gene_variant,,ENST00000368264,;C1orf85,downstream_gene_variant,,ENST00000479084,;C1orf85,downstream_gene_variant,,ENST00000497955,;C1orf85,downstream_gene_variant,,ENST00000484214,;	1256	57	80	SUCCESS
COPA	1314	.	GRCh37	1	160309715	160309715	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	58	66	0	ENST00000241704.7:c.212A>G	p.Asp71Gly	p.D71G	ENST00000241704	NM_004371.3	71	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS41424.1	212	RADIA|MUTECT|MUSE	.	AGTCATCTCCT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF003354,Superfamily_domains:SSF50978	.	.	ENSP00000357048	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,missense_variant,p.Asp71Gly,ENST00000368069,;COPA,missense_variant,p.Asp71Gly,ENST00000241704,;NCSTN,upstream_gene_variant,,ENST00000294785,;NCSTN,upstream_gene_variant,,ENST00000437169,;NCSTN,upstream_gene_variant,,ENST00000535857,;NCSTN,upstream_gene_variant,,ENST00000368063,;NCSTN,upstream_gene_variant,,ENST00000421914,;NCSTN,upstream_gene_variant,,ENST00000392212,;NCSTN,upstream_gene_variant,,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000491332,;NCSTN,upstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000465223,;COPA,non_coding_transcript_exon_variant,,ENST00000545266,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;	290	66	99	SUCCESS
USF1	7391	.	GRCh37	1	161011957	161011957	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	78	0	ENST00000368020.1:c.225T>G	p.Thr75=	p.T75=	ENST00000368020	NM_001276373.1	75	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1214.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCAGTTTG	NONE	.	.	hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF45	.	.	ENSP00000357000	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000368021	Transcript	.	.	ENSG00000158773	12593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USF1_HUMAN	USF1	HGNC	E9PQA2_HUMAN,E9PJ52_HUMAN	.	UPI0000001C35	SNV	USF1,synonymous_variant,p.%3D,ENST00000435396,;USF1,synonymous_variant,p.%3D,ENST00000534633,;USF1,synonymous_variant,p.%3D,ENST00000531842,;USF1,synonymous_variant,p.%3D,ENST00000368019,;USF1,synonymous_variant,p.%3D,ENST00000368021,;USF1,synonymous_variant,p.%3D,ENST00000368020,;ARHGAP30,downstream_gene_variant,,ENST00000368013,;TSTD1,upstream_gene_variant,,ENST00000368023,;ARHGAP30,downstream_gene_variant,,ENST00000368016,;TSTD1,upstream_gene_variant,,ENST00000318289,;ARHGAP30,downstream_gene_variant,,ENST00000368015,;TSTD1,upstream_gene_variant,,ENST00000423014,;TSTD1,upstream_gene_variant,,ENST00000368024,;USF1,upstream_gene_variant,,ENST00000528768,;TSTD1,upstream_gene_variant,,ENST00000466967,;USF1,3_prime_UTR_variant,,ENST00000473969,;USF1,non_coding_transcript_exon_variant,,ENST00000496363,;USF1,non_coding_transcript_exon_variant,,ENST00000491629,;USF1,intron_variant,,ENST00000529476,;ARHGAP30,downstream_gene_variant,,ENST00000461003,;TSTD1,upstream_gene_variant,,ENST00000462952,;TSTD1,upstream_gene_variant,,ENST00000486084,;RP11-544M22.13,upstream_gene_variant,,ENST00000289779,;USF1,upstream_gene_variant,,ENST00000472217,;RP11-544M22.13,upstream_gene_variant,,ENST00000470694,;	430	78	151	SUCCESS
MIR556	693141	.	GRCh37	1	162312352	162312352	+	mature_miRNA_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	65	113	0	ENST00000384996.1:n.17A>T		p.*6*	ENST00000384996				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1237.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGATGAGC	NONE	.	.	.	.	.	ENSP00000355133	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361897	Transcript	.	.	ENSG00000198929	16859	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPON_HUMAN	NOS1AP	HGNC	H7BY61_HUMAN,E9PIP8_HUMAN	.	UPI000019C573	SNV	NOS1AP,intron_variant,,ENST00000530878,;NOS1AP,intron_variant,,ENST00000361897,;MIR556,mature_miRNA_variant,,ENST00000384996,;RNA5SP61,downstream_gene_variant,,ENST00000516453,;NOS1AP,intron_variant,,ENST00000430120,;	.	113	207	SUCCESS
C1orf112	55732	.	GRCh37	1	169799444	169799444	+	synonymous_variant	Silent	SNP	C	C	A	rs532518246	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	45	0	ENST00000286031.6:c.1359C>A	p.Thr453=	p.T453=	ENST00000286031	NM_018186.2	453	acC/acA	0	.	G:0	.	G:0	.	A	T	protein_coding	YES	CCDS1285.1	1359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCTCTTT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR16071,hmmpanther:PTHR16071:SF1,Pfam_domain:PF14868	G:0	.	ENSP00000286031	G:0	14/24	.	.	.	.	.	.	.	.	rs532518246	14/24	PASS	ENST00000286031	Transcript	.	G:0.0006	ENSG00000000460	25565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0031	.	.	CA112_HUMAN	C1orf112	HGNC	.	.	UPI000006E467	SNV	C1orf112,synonymous_variant,p.%3D,ENST00000286031,;C1orf112,synonymous_variant,p.%3D,ENST00000359326,;C1orf112,downstream_gene_variant,,ENST00000456684,;C1orf112,downstream_gene_variant,,ENST00000413811,;C1orf112,non_coding_transcript_exon_variant,,ENST00000459772,;C1orf112,non_coding_transcript_exon_variant,,ENST00000498289,;	2059	45	78	SUCCESS
CR1	1378	.	GRCh37	1	207785177	207785177	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	114	115	0	ENST00000367051.1:c.5101C>T	p.Pro1701Ser	p.P1701S	ENST00000367051		1701	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44308.1	6451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCTGAA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.12)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Pro1701Ser,ENST00000367051,;CR1,missense_variant,p.Pro1701Ser,ENST00000367052,;CR1,missense_variant,p.Pro2151Ser,ENST00000367049,;CR1,missense_variant,p.Pro1701Ser,ENST00000400960,;CR1,missense_variant,p.Pro1701Ser,ENST00000367053,;CR1,intron_variant,,ENST00000529814,;CR1,downstream_gene_variant,,ENST00000534202,;	6451	115	174	SUCCESS
CAMK1G	57172	.	GRCh37	1	209785166	209785166	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	36	0	ENST00000009105.1:c.945C>A	p.His315Gln	p.H315Q	ENST00000009105		315	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS1486.1	945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACCACAT	NONE	.	.	hmmpanther:PTHR24347:SF114,hmmpanther:PTHR24347	.	.	ENSP00000009105	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000009105	Transcript	.	.	ENSG00000008118	14585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.09)	.	KCC1G_HUMAN	CAMK1G	HGNC	.	.	UPI0000049BF8	SNV	CAMK1G,missense_variant,p.His315Gln,ENST00000361322,;CAMK1G,missense_variant,p.His315Gln,ENST00000009105,;LAMB3,downstream_gene_variant,,ENST00000356082,;LAMB3,downstream_gene_variant,,ENST00000455193,;LAMB3,downstream_gene_variant,,ENST00000367030,;LAMB3,downstream_gene_variant,,ENST00000391911,;CAMK1G,downstream_gene_variant,,ENST00000423146,;CAMK1G,non_coding_transcript_exon_variant,,ENST00000494990,;	1190	36	70	SUCCESS
RCOR3	55758	.	GRCh37	1	211486101	211486105	+	frameshift_variant	Frame_Shift_Del	DEL	ATGTA	ATGTA	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	ATGTA	ATGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	172	76	158	0	ENST00000367005.4:c.943_947del	p.Val315TrpfsTer20	p.V315Wfs*20	ENST00000367005	NM_018254.3	314	gATGTA/g	0	.	.	.	.	.	-	DV/X	protein_coding	YES	CCDS44312.1	1115-1119	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCAGATGTAATTGG	BUFFER|p.N318S|c.953A>G|4	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089,Pfam_domain:PF00249,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000413929	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	deletion	RCOR3,frameshift_variant,p.Val133TrpfsTer20,ENST00000529763,;RCOR3,frameshift_variant,p.Val373TrpfsTer20,ENST00000452621,;RCOR3,frameshift_variant,p.Val373TrpfsTer20,ENST00000419091,;RCOR3,frameshift_variant,p.Val315TrpfsTer20,ENST00000367005,;RCOR3,intron_variant,,ENST00000534460,;RCOR3,intron_variant,,ENST00000367006,;RCOR3,non_coding_transcript_exon_variant,,ENST00000526255,;RCOR3,3_prime_UTR_variant,,ENST00000485186,;RCOR3,3_prime_UTR_variant,,ENST00000528926,;RCOR3,non_coding_transcript_exon_variant,,ENST00000486666,;RCOR3,non_coding_transcript_exon_variant,,ENST00000528066,;	1243-1247	158	248	SUCCESS
FBXO28	23219	.	GRCh37	1	224340935	224340935	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	83	0	ENST00000366862.5:c.608T>G	p.Ile203Arg	p.I203R	ENST00000366862	NM_015176.3	203	aTa/aGa	0	.	.	.	.	.	G	I/R	protein_coding	YES	CCDS1539.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATATATCCT	NONE	.	.	hmmpanther:PTHR13252	.	.	ENSP00000355827	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000366862	Transcript	.	.	ENSG00000143756	29046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.758)	.	deleterious(0)	.	FBX28_HUMAN	FBXO28	HGNC	B4E0H5_HUMAN	.	UPI000006F1C1	SNV	FBXO28,missense_variant,p.Ile203Arg,ENST00000366862,;FBXO28,intron_variant,,ENST00000424254,;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	651	83	146	SUCCESS
OBSCN	84033	.	GRCh37	1	228548151	228548151	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	38	0	ENST00000422127.1:c.18662-2126G>T		p.*6221*	ENST00000422127	NM_001098623.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59204.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGCACTG	NONE	.	.	.	.	.	ENSP00000455507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODIFIER	90/115	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala3639Ser,ENST00000366709,;OBSCN,missense_variant,p.Ala6520Ser,ENST00000284548,;OBSCN,3_prime_UTR_variant,,ENST00000474237,;OBSCN,intron_variant,,ENST00000366707,;OBSCN,intron_variant,,ENST00000441106,;OBSCN,intron_variant,,ENST00000422127,;OBSCN,intron_variant,,ENST00000570156,;	.	38	59	SUCCESS
RHOU	58480	.	GRCh37	1	228871685	228871685	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749748949	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	30	0	ENST00000366691.3:c.196G>A	p.Val66Met	p.V66M	ENST00000366691	NM_021205.5	66	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1575.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGTGGTG	BUFFER|p.S68S|c.204C>T|4	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF148,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000355652	.	1/3	.	.	.	.	.	.	.	.	rs749748949	1/3	PASS	ENST00000366691	Transcript	.	.	ENSG00000116574	17794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0.01)	.	RHOU_HUMAN	RHOU	HGNC	.	.	UPI0000073CDF	SNV	RHOU,missense_variant,p.Val66Met,ENST00000366691,;	862	30	70	SUCCESS
ZNF124	7678	.	GRCh37	1	247320147	247320147	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	36	90	0	ENST00000543802.2:c.777A>G	p.Glu259=	p.E259=	ENST00000543802		259	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS31089.1	591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTTCACC	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF136,PROSITE_profiles:PS50157	.	.	ENSP00000340749	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340684	Transcript	.	.	ENSG00000196418	12907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN124_HUMAN	ZNF124	HGNC	.	.	UPI00001A818D	SNV	ZNF124,synonymous_variant,p.%3D,ENST00000340684,;ZNF124,synonymous_variant,p.%3D,ENST00000543802,;ZNF124,intron_variant,,ENST00000472531,;ZNF124,intron_variant,,ENST00000491356,;ZNF124,downstream_gene_variant,,ENST00000491848,;	730	90	135	SUCCESS
AGRN	375790	.	GRCh37	1	980903	980903	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs138248828	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	0	24	45	0	ENST00000379370.2:c.2536C>A	p.Pro846Thr	p.P846T	ENST00000379370	NM_198576.3	846	Ccc/Acc	0	T:0	.	.	.	.	A	P/T	protein_coding	YES	CCDS30551.1	2536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACACGTGAG	NONE	byFrequency|byCluster	.	Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574:SF227,hmmpanther:PTHR10574,PROSITE_profiles:PS50027	.	T:0.0003	ENSP00000368678	.	14/36	.	.	.	.	.	.	.	.	rs138248828	14/36	PASS	ENST00000379370	Transcript	.	.	ENSG00000188157	329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	deleterious(0.05)	.	AGRIN_HUMAN	AGRN	HGNC	Q5XG79_HUMAN	.	UPI00001D7C8B	SNV	AGRN,missense_variant,p.Pro846Thr,ENST00000379370,;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,splice_region_variant,,ENST00000479707,;AGRN,upstream_gene_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000478677,;AGRN,downstream_gene_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000492947,;	2586	45	25	SUCCESS
CLDN8	9073	.	GRCh37	21	31587841	31587841	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	64	0	ENST00000399899.1:c.403A>C	p.Ile135Leu	p.I135L	ENST00000399899	NM_199328.2	135	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS13587.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGATGAGCA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01077,Pfam_domain:PF00822,hmmpanther:PTHR12002:SF24,hmmpanther:PTHR12002	.	.	ENSP00000382783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399899	Transcript	.	.	ENSG00000156284	2050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0)	.	CLD8_HUMAN	CLDN8	HGNC	.	.	UPI00000389FD	SNV	CLDN8,missense_variant,p.Ile135Leu,ENST00000286809,;CLDN8,missense_variant,p.Ile135Leu,ENST00000399899,;LINC00307,upstream_gene_variant,,ENST00000451410,;	551	64	65	SUCCESS
RUNX1	861	.	GRCh37	21	36193995	36193995	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	50	118	0	ENST00000300305.3:c.805+12712A>T		p.*269*	ENST00000300305				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13639.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTGAGGG	NONE	.	.	.	.	.	ENSP00000300305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300305	Transcript	.	.	ENSG00000159216	10471	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUNX1_HUMAN	RUNX1	HGNC	.	.	UPI000015FE6A	SNV	RUNX1,splice_acceptor_variant,,ENST00000358356,;RUNX1,intron_variant,,ENST00000399240,;RUNX1,intron_variant,,ENST00000344691,;RUNX1,intron_variant,,ENST00000437180,;RUNX1,intron_variant,,ENST00000300305,;RUNX1,intron_variant,,ENST00000325074,;RUNX1,splice_acceptor_variant,,ENST00000479325,;RUNX1,intron_variant,,ENST00000482318,;	.	118	112	SUCCESS
TRPM2	7226	.	GRCh37	21	45833853	45833853	+	synonymous_variant	Silent	SNP	G	G	A	rs138097338	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	62	0	ENST00000300482.5:c.3042G>A	p.Thr1014=	p.T1014=	ENST00000300482		1014	acG/acA	0	A:0.0059	A:0.0061	.	A:0	.	A	T	protein_coding	YES	CCDS13710.1	3042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGACGCAGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800,Pfam_domain:PF00520	A:0	A:0	ENSP00000381023	A:0	20/32	.	.	.	.	.	.	.	.	rs138097338,COSM1031276	20/32	common_in_exac	ENST00000397928	Transcript	.	A:0.0016	ENSG00000142185	12339	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,synonymous_variant,p.%3D,ENST00000300481,;TRPM2,synonymous_variant,p.%3D,ENST00000397928,;TRPM2,synonymous_variant,p.%3D,ENST00000397932,;TRPM2,synonymous_variant,p.%3D,ENST00000300482,;AP001065.2,downstream_gene_variant,,ENST00000423310,;AP001065.2,downstream_gene_variant,,ENST00000456880,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	3487	62	82	SUCCESS
SGSM1	129049	.	GRCh37	22	25251281	25251281	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	55	0	ENST00000400359.4:c.553A>G	p.Met185Val	p.M185V	ENST00000400359	NM_133454.2	185	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS46674.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGATGAAG	NONE	.	.	PROSITE_profiles:PS50826,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343	.	.	ENSP00000383212	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000400359	Transcript	.	.	ENSG00000167037	29410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.17)	.	SGSM1_HUMAN	SGSM1	HGNC	.	.	UPI00006EB130	SNV	SGSM1,missense_variant,p.Met185Val,ENST00000400359,;SGSM1,missense_variant,p.Met185Val,ENST00000400358,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;	560	55	56	SUCCESS
PLXNB2	23654	.	GRCh37	22	50719562	50719562	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766000331	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	50	0	ENST00000359337.4:c.3719G>T	p.Gly1240Val	p.G1240V	ENST00000359337	NM_012401.3	1240	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS43035.1	3719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9	.	.	ENSP00000409171	.	23/37	.	.	.	.	.	.	.	.	rs766000331	23/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.06)	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,missense_variant,p.Gly1240Val,ENST00000359337,;PLXNB2,missense_variant,p.Gly1240Val,ENST00000449103,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000427829,;PLXNB2,downstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000463165,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000492578,;PLXNB2,upstream_gene_variant,,ENST00000479818,;	3860	50	51	SUCCESS
TMEM87B	84910	.	GRCh37	2	112839010	112839010	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	45	70	0	ENST00000283206.4:c.753G>A	p.Trp251Ter	p.W251*	ENST00000283206	NM_032824.2	251	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS33275.1	753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGATTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF8,Pfam_domain:PF06814	.	.	ENSP00000283206	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000283206	Transcript	.	.	ENSG00000153214	25913	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM87B_HUMAN	TMEM87B	HGNC	Q53RE0_HUMAN	.	UPI000004B634	SNV	TMEM87B,stop_gained,p.Trp251Ter,ENST00000283206,;TMEM87B,downstream_gene_variant,,ENST00000452614,;TMEM87B,upstream_gene_variant,,ENST00000463427,;TMEM87B,downstream_gene_variant,,ENST00000452029,;	1122	70	90	SUCCESS
ZC3H6	376940	.	GRCh37	2	113089743	113089743	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	139	287	0	ENST00000343936.4:c.3248G>T	p.Ser1083Ile	p.S1083I	ENST00000343936		1083	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS46393.1	3248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTAGTGACA	NONE	.	.	hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22	.	.	ENSP00000386764	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000409871	Transcript	.	.	ENSG00000188177	24762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.723)	.	deleterious(0.02)	.	ZC3H6_HUMAN	ZC3H6	HGNC	.	.	UPI00004215E8	SNV	ZC3H6,missense_variant,p.Ser1083Ile,ENST00000343936,;ZC3H6,missense_variant,p.Ser1083Ile,ENST00000409871,;AC115115.2,non_coding_transcript_exon_variant,,ENST00000502881,;AC115115.2,upstream_gene_variant,,ENST00000607612,;	3649	287	285	SUCCESS
GREB1	9687	.	GRCh37	2	11751071	11751071	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778741413	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	62	165	0	ENST00000234142.5:c.2924C>T	p.Ala975Val	p.A975V	ENST00000234142		975	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42655.1	2924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGCTGG	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	18/33	.	.	.	.	.	.	.	.	rs778741413	18/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.508)	.	deleterious(0)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Ala975Val,ENST00000234142,;GREB1,missense_variant,p.Ala975Val,ENST00000381486,;GREB1,upstream_gene_variant,,ENST00000396123,;GREB1,downstream_gene_variant,,ENST00000432985,;AC011994.1,downstream_gene_variant,,ENST00000581704,;GREB1,upstream_gene_variant,,ENST00000472040,;	3224	165	153	SUCCESS
BAZ2B	29994	.	GRCh37	2	160257109	160257109	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs1407995331	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	124	229	0	ENST00000392783.2:c.2898+1G>T		p.X966_splice	ENST00000392783	NM_013450.2	966		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2209.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTACCTCTA	NONE	.	.	.	.	.	ENSP00000376534	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	HIGH	17/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,splice_donor_variant,,ENST00000294905,;BAZ2B,splice_donor_variant,,ENST00000343439,;BAZ2B,splice_donor_variant,,ENST00000392782,;BAZ2B,splice_donor_variant,,ENST00000355831,;BAZ2B,splice_donor_variant,,ENST00000392783,;AC008277.1,intron_variant,,ENST00000594921,;AC008277.1,intron_variant,,ENST00000420020,;AC008277.1,downstream_gene_variant,,ENST00000608714,;BAZ2B,upstream_gene_variant,,ENST00000551504,;BAZ2B,downstream_gene_variant,,ENST00000482501,;BAZ2B,downstream_gene_variant,,ENST00000472953,;	.	229	258	SUCCESS
TTN	7273	.	GRCh37	2	179582535	179582535	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs201810836	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	61	0	ENST00000591111.1:c.24115C>T	p.Arg8039Cys	p.R8039C	ENST00000591111		8039	Cgc/Tgc	0	.	A:0.0008	.	A:0	.	A	R/C	protein_coding	YES	CCDS59435.1	25066	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCGCGCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Superfamily_domains:SSF48726	A:0.002	.	ENSP00000467141	A:0	87/363	.	.	.	.	.	.	.	.	rs201810836,COSM2706477,COSM1142219,COSM2706478,COSM1649667	87/363	PASS	ENST00000589042	Transcript	.	A:0.0006	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	A:0	.	0,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg7112Cys,ENST00000342992,;TTN,missense_variant,p.Arg8356Cys,ENST00000589042,;TTN,missense_variant,p.Arg8039Cys,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000592630,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589830,;	25291	61	55	SUCCESS
ABCA12	26154	.	GRCh37	2	215876718	215876718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	46	87	0	ENST00000272895.7:c.2098C>A	p.Pro700Thr	p.P700T	ENST00000272895	NM_173076.2	700	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS33372.1	2098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGCAGAT	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	16/53	.	.	.	.	.	.	.	.	.	16/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.58)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Pro382Thr,ENST00000389661,;ABCA12,missense_variant,p.Pro700Thr,ENST00000272895,;	2318	87	90	SUCCESS
SCG2	7857	.	GRCh37	2	224462698	224462698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	40	58	0	ENST00000305409.2:c.1303G>T	p.Asp435Tyr	p.D435Y	ENST00000305409	NM_003469.4	435	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2457.1	1303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATCCTCAA	NONE	.	.	hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0,Pfam_domain:PF01271	.	.	ENSP00000304133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305409	Transcript	.	.	ENSG00000171951	10575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	SCG2_HUMAN	SCG2	HGNC	C9JQI2_HUMAN,C9JDT0_HUMAN	.	UPI000013EA45	SNV	SCG2,missense_variant,p.Asp435Tyr,ENST00000305409,;SCG2,downstream_gene_variant,,ENST00000433889,;SCG2,downstream_gene_variant,,ENST00000421386,;	1536	58	80	SUCCESS
SP110	3431	.	GRCh37	2	231042313	231042313	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745817983	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	87	0	ENST00000358662.4:c.1531G>A	p.Ala511Thr	p.A511T	ENST00000358662	NM_004509.3	511	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2475.1	1531	RADIA|MUTECT|MUSE	.	CTTTGCGTTCC	NONE	byFrequency	.	PROSITE_profiles:PS50864,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46,Gene3D:3.10.390.10,Pfam_domain:PF01342,SMART_domains:SM00258,Superfamily_domains:SSF63763	.	.	ENSP00000258381	.	14/19	.	.	.	.	.	.	.	.	rs745817983,COSM1530995,COSM3048238,COSM3048239,COSM1530996	14/19	PASS	ENST00000258381	Transcript	.	.	ENSG00000135899	5401	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1,1,1	.	.	possibly_damaging(0.695)	.	tolerated(0.25)	0,1,1,1,1	SP110_HUMAN	SP110	HGNC	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN	.	UPI000013CFC9	SNV	SP110,missense_variant,p.Ala213Thr,ENST00000338556,;SP110,missense_variant,p.Ala509Thr,ENST00000392048,;SP110,missense_variant,p.Ala511Thr,ENST00000358662,;SP110,missense_variant,p.Ala511Thr,ENST00000258381,;SP110,missense_variant,p.Ala511Thr,ENST00000258382,;SP110,missense_variant,p.Ala517Thr,ENST00000540870,;AC009950.2,downstream_gene_variant,,ENST00000600787,;AC009950.2,downstream_gene_variant,,ENST00000594622,;AC009950.2,downstream_gene_variant,,ENST00000454058,;AC009950.2,downstream_gene_variant,,ENST00000609120,;AC009950.2,downstream_gene_variant,,ENST00000595586,;SP110,non_coding_transcript_exon_variant,,ENST00000489597,;SP110,upstream_gene_variant,,ENST00000477068,;	1609	87	96	SUCCESS
THADA	63892	.	GRCh37	2	43460007	43460007	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	78	166	0	ENST00000405006.4:c.5311C>A	p.Gln1771Lys	p.Q1771K	ENST00000405006	NM_001083953.1	1771	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS46268.1	5311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGGCAGA	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	.	.	ENSP00000385995	.	37/38	.	.	.	.	.	.	.	.	.	37/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.94)	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,missense_variant,p.Gln1771Lys,ENST00000405006,;THADA,missense_variant,p.Gln1771Lys,ENST00000405975,;THADA,missense_variant,p.Gln1011Lys,ENST00000407351,;THADA,missense_variant,p.Gln1452Lys,ENST00000415080,;THADA,intron_variant,,ENST00000330266,;AC010883.5,non_coding_transcript_exon_variant,,ENST00000423354,;THADA,non_coding_transcript_exon_variant,,ENST00000467668,;THADA,3_prime_UTR_variant,,ENST00000398653,;	5663	166	176	SUCCESS
RPS27A	6233	.	GRCh37	2	55459745	55459745	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	15	0	ENST00000272317.6:c.-117G>T		p.*39*	ENST00000272317	NM_002954.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33202.1	.	MUTECT|MUSE	.	GTCAGGCATTT	NONE	.	.	.	.	.	ENSP00000272317	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000272317	Transcript	.	.	ENSG00000143947	10417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS27A_HUMAN	RPS27A	HGNC	Q8WYN9_HUMAN,M0R1V7_HUMAN,J3QTR3_HUMAN,J3QSA3_HUMAN,F5GZ39_HUMAN,B2RDW1_HUMAN,A8CGI2_HUMAN	.	UPI0000000505	SNV	RPS27A,5_prime_UTR_variant,,ENST00000272317,;RPS27A,intron_variant,,ENST00000449323,;RPS27A,intron_variant,,ENST00000402285,;CLHC1,upstream_gene_variant,,ENST00000406437,;MTIF2,downstream_gene_variant,,ENST00000394600,;RPS27A,upstream_gene_variant,,ENST00000404735,;CLHC1,upstream_gene_variant,,ENST00000401408,;MTIF2,downstream_gene_variant,,ENST00000263629,;CLHC1,upstream_gene_variant,,ENST00000406076,;CLHC1,upstream_gene_variant,,ENST00000451916,;CLHC1,upstream_gene_variant,,ENST00000407122,;MTIF2,downstream_gene_variant,,ENST00000403721,;CLHC1,upstream_gene_variant,,ENST00000464243,;CLHC1,upstream_gene_variant,,ENST00000463300,;CLHC1,upstream_gene_variant,,ENST00000466020,;CLHC1,upstream_gene_variant,,ENST00000494539,;CLHC1,upstream_gene_variant,,ENST00000487320,;RPS27A,upstream_gene_variant,,ENST00000471772,;RPS27A,upstream_gene_variant,,ENST00000463185,;RPS27A,upstream_gene_variant,,ENST00000494756,;RPS27A,upstream_gene_variant,,ENST00000468810,;RPS27A,upstream_gene_variant,,ENST00000478196,;RPS27A,upstream_gene_variant,,ENST00000495843,;CLHC1,upstream_gene_variant,,ENST00000428621,;	208	15	19	SUCCESS
SFXN5	94097	.	GRCh37	2	73195626	73195626	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	90	191	0	ENST00000272433.2:c.778C>T	p.Pro260Ser	p.P260S	ENST00000272433	NM_144579.2	260	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1922.1	778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGCAGGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF17,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820	.	.	ENSP00000272433	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000272433	Transcript	.	.	ENSG00000144040	16073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.12)	.	SFXN5_HUMAN	SFXN5	HGNC	.	.	UPI000006D292	SNV	SFXN5,missense_variant,p.Pro260Ser,ENST00000272433,;SFXN5,missense_variant,p.Ala211Val,ENST00000411783,;SFXN5,intron_variant,,ENST00000410065,;SFXN5,non_coding_transcript_exon_variant,,ENST00000482289,;SFXN5,non_coding_transcript_exon_variant,,ENST00000495208,;SFXN5,non_coding_transcript_exon_variant,,ENST00000463277,;SFXN5,non_coding_transcript_exon_variant,,ENST00000490056,;SFXN5,non_coding_transcript_exon_variant,,ENST00000482542,;SFXN5,non_coding_transcript_exon_variant,,ENST00000474528,;SFXN5,non_coding_transcript_exon_variant,,ENST00000461352,;SFXN5,downstream_gene_variant,,ENST00000416579,;	909	191	198	SUCCESS
CCT7	10574	.	GRCh37	2	73479792	73479792	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	84	212	0	ENST00000258091.5:c.1435A>T	p.Ile479Phe	p.I479F	ENST00000258091	NM_006429.3	479	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS46336.1	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGACATCAAC	NONE	.	.	Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,TIGRFAM_domain:TIGR02345,hmmpanther:PTHR11353:SF22,hmmpanther:PTHR11353	.	.	ENSP00000258091	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000258091	Transcript	.	.	ENSG00000135624	1622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	tolerated(0.26)	.	TCPH_HUMAN	CCT7	HGNC	F8WAM2_HUMAN	.	UPI0000136B06	SNV	CCT7,missense_variant,p.Ile392Phe,ENST00000540468,;CCT7,missense_variant,p.Ile479Phe,ENST00000258091,;CCT7,missense_variant,p.Ile351Phe,ENST00000538797,;CCT7,missense_variant,p.Ile275Phe,ENST00000398422,;CCT7,missense_variant,p.Ile435Phe,ENST00000539919,;CCT7,missense_variant,p.Ile379Phe,ENST00000537131,;FBXO41,downstream_gene_variant,,ENST00000295133,;FBXO41,downstream_gene_variant,,ENST00000521871,;CCT7,downstream_gene_variant,,ENST00000473786,;CCT7,downstream_gene_variant,,ENST00000488856,;CCT7,downstream_gene_variant,,ENST00000409924,;	1576	212	214	SUCCESS
CTNNA2	1496	.	GRCh37	2	80816543	80816543	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs537442409	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	85	213	0	ENST00000402739.4:c.2122G>T	p.Gly708Cys	p.G708C	ENST00000402739	NM_001282597.1	708	Ggc/Tgc	0	.	A:0	.	A:0	.	T	G/C	protein_coding	YES	CCDS42703.2	2122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGCAAT	NONE	by1000G	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	A:0	.	ENSP00000418191	A:0	19/22	.	.	.	.	.	.	.	.	rs537442409	19/22	PASS	ENST00000466387	Transcript	.	A:0.0002	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	A:0.001	deleterious(0)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Gly708Cys,ENST00000496558,;CTNNA2,missense_variant,p.Gly742Cys,ENST00000361291,;CTNNA2,missense_variant,p.Gly708Cys,ENST00000541047,;CTNNA2,missense_variant,p.Gly387Cys,ENST00000343114,;CTNNA2,missense_variant,p.Gly708Cys,ENST00000540488,;CTNNA2,missense_variant,p.Gly708Cys,ENST00000466387,;CTNNA2,missense_variant,p.Gly708Cys,ENST00000402739,;AC008067.2,intron_variant,,ENST00000609950,;AC008067.2,intron_variant,,ENST00000595478,;AC008067.2,intron_variant,,ENST00000430876,;AC008067.2,intron_variant,,ENST00000596887,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000467892,;	2846	213	200	SUCCESS
CTNNA2	1496	.	GRCh37	2	80816544	80816544	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	83	216	0	ENST00000402739.4:c.2123G>T	p.Gly708Val	p.G708V	ENST00000402739	NM_001282597.1	708	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS42703.2	2123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCAATG	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Gly708Val,ENST00000496558,;CTNNA2,missense_variant,p.Gly742Val,ENST00000361291,;CTNNA2,missense_variant,p.Gly708Val,ENST00000541047,;CTNNA2,missense_variant,p.Gly387Val,ENST00000343114,;CTNNA2,missense_variant,p.Gly708Val,ENST00000540488,;CTNNA2,missense_variant,p.Gly708Val,ENST00000466387,;CTNNA2,missense_variant,p.Gly708Val,ENST00000402739,;AC008067.2,intron_variant,,ENST00000609950,;AC008067.2,intron_variant,,ENST00000595478,;AC008067.2,intron_variant,,ENST00000430876,;AC008067.2,intron_variant,,ENST00000596887,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000467892,;	2847	216	197	SUCCESS
MBOAT2	129642	.	GRCh37	2	9017206	9017206	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	49	110	0	ENST00000305997.3:c.644A>T	p.Asn215Ile	p.N215I	ENST00000305997	NM_138799.2	215	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS1660.1	644	RADIA|MUTECT|MUSE	.	TTCCATTTTCA	NONE	.	.	Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7	.	.	ENSP00000302177	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000305997	Transcript	.	.	ENSG00000143797	25193	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.353)	.	deleterious(0)	.	MBOA2_HUMAN	MBOAT2	HGNC	B0AZU0_HUMAN	.	UPI0000231CFB	SNV	MBOAT2,missense_variant,p.Asn215Ile,ENST00000305997,;MBOAT2,downstream_gene_variant,,ENST00000462696,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,missense_variant,p.Asn20Ile,ENST00000471753,;MBOAT2,3_prime_UTR_variant,,ENST00000477073,;	843	110	100	SUCCESS
MBOAT2	129642	.	GRCh37	2	9017208	9017208	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs748274292	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	114	0	ENST00000305997.3:c.642A>C	p.Glu214Asp	p.E214D	ENST00000305997	NM_138799.2	214	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS1660.1	642	RADIA|MUTECT|MUSE	.	CCATTTTCACC	NONE	.	.	Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7	.	.	ENSP00000302177	.	7/13	.	.	.	.	.	.	.	.	rs748274292	7/13	PASS	ENST00000305997	Transcript	.	.	ENSG00000143797	25193	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.62)	.	MBOA2_HUMAN	MBOAT2	HGNC	B0AZU0_HUMAN	.	UPI0000231CFB	SNV	MBOAT2,missense_variant,p.Glu214Asp,ENST00000305997,;MBOAT2,downstream_gene_variant,,ENST00000462696,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,missense_variant,p.Glu19Asp,ENST00000471753,;MBOAT2,3_prime_UTR_variant,,ENST00000477073,;	841	114	99	SUCCESS
TATDN2	9797	.	GRCh37	3	10301858	10301858	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	89	178	0	ENST00000287652.4:c.452C>G	p.Ser151Cys	p.S151C	ENST00000287652	NM_014760.3	151	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS33698.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTCTGAAT	NONE	.	.	hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19	.	.	ENSP00000287652	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000287652	Transcript	.	.	ENSG00000157014	28988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.09)	.	TATD2_HUMAN	TATDN2	HGNC	H7BZJ2_HUMAN	.	UPI000013DEC1	SNV	TATDN2,missense_variant,p.Ser151Cys,ENST00000448281,;TATDN2,missense_variant,p.Ser151Cys,ENST00000287652,;RP11-438J1.1,missense_variant,p.Ser94Cys,ENST00000437082,;RP11-438J1.1,intron_variant,,ENST00000450534,;	1503	178	187	SUCCESS
SLC9C1	285335	.	GRCh37	3	111901012	111901012	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	133	252	1	ENST00000305815.5:c.2617G>T	p.Asp873Tyr	p.D873Y	ENST00000305815	NM_183061.1	873	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33817.1	2617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATCTAGCC	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Superfamily_domains:SSF51206	.	.	ENSP00000306627	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	deleterious(0)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Asp825Tyr,ENST00000487372,;SLC9C1,missense_variant,p.Asp873Tyr,ENST00000305815,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;RP11-757F18.3,downstream_gene_variant,,ENST00000487626,;	2870	253	299	SUCCESS
TM4SF4	7104	.	GRCh37	3	149205519	149205519	+	synonymous_variant	Silent	SNP	A	A	G	rs571739504	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	86	0	ENST00000305354.4:c.378A>G	p.Thr126=	p.T126=	ENST00000305354	NM_004617.3	126	acA/acG	0	.	G:0	.	G:0	.	G	T	protein_coding	YES	CCDS46932.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACATGGGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR14198:SF15,hmmpanther:PTHR14198,Pfam_domain:PF05805	G:0.003	.	ENSP00000305852	G:0	3/5	.	.	.	.	.	.	.	.	rs571739504,COSM3767091	3/5	PASS	ENST00000305354	Transcript	.	G:0.0006	ENSG00000169903	11856	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	G:0	.	0,1	T4S4_HUMAN	TM4SF4	HGNC	.	.	UPI000013683D	SNV	TM4SF4,synonymous_variant,p.%3D,ENST00000305354,;TM4SF4,downstream_gene_variant,,ENST00000465758,;TM4SF4,non_coding_transcript_exon_variant,,ENST00000463068,;	1282	86	82	SUCCESS
PIK3CA	5290	.	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913279	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	60	112	0	ENST00000263967.3:c.3140A>T	p.His1047Leu	p.H1047L	ENST00000263967	NM_006218.2	1047	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS43171.1	3140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TGCACATCATG	SITE|p.H1047L|c.3140A>T|236,SITE|p.H1047L|c.3140A>T|45,CODON|p.H1047Y|c.3139C>T|8,CODON|p.H1047Y|c.3139C>T|54,CODON|p.H1047R|c.3140A>G|1687,CODON|p.H1047R|c.3140A>G|242,BUFFER|p.M1043I|c.3129G>T|4,BUFFER|p.M1043I|c.3129G>A|8,BUFFER|p.M1043I|c.3129G>T|45,BUFFER|p.M1043I|c.3129G>A|22,BUFFER|p.M1043I|c.3129G>C|4,BUFFER|p.M1043I|c.3129G>C|6,BUFFER|p.N1044D|c.3130A>G|4,BUFFER|p.N1044Y|c.3130A>T|3,BUFFER|p.N1044S|c.3131A>G|5,BUFFER|p.N1044S|c.3131A>G|3,BUFFER|p.N1044K|c.3132T>G|5,BUFFER|p.N1044K|c.3132T>A|15,BUFFER|p.N1044K|c.3132T>A|7,BUFFER|p.D1045N|c.3133G>A|6,BUFFER|p.A1046T|c.3136G>A|6,BUFFER|p.A1046E|c.3137C>A|3,BUFFER|p.H1047Q|c.3141T>G|4,BUFFER|p.H1048R|c.3143A>G|6,BUFFER|p.H1048R|c.3143A>G|3,BUFFER|p.G1049S|c.3145G>A|16,BUFFER|p.G1049R|c.3145G>C|29,BUFFER|p.G1049R|c.3145G>C|5,BUFFER|p.G1049A|c.3146G>C|3,BUFFER|p.G1049D|c.3146G>A|4,BUFFER|p.G1049G|c.3147T>C|10,BUFFER|p.G1050S|c.3148G>A|3,BUFFER|p.G1050D|c.3149G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000263967	.	21/21	.	.	.	.	.	.	.	.	rs121913279,COSM776,COSM775,COSM249874,COSM94987,COSM94986	21/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	25710561	benign(0.085)	.	tolerated(0.44)	0,1,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.His1047Leu,ENST00000263967,;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	3297	112	140	SUCCESS
KCNMB3	27094	.	GRCh37	3	178968889	178968889	+	start_lost	Translation_Start_Site	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	102	0	ENST00000314235.5:c.3G>A	p.Met1?	p.M1?	ENST00000314235	NM_014407.3	1	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS3226.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCATCTA	NONE	.	.	.	.	.	ENSP00000319370	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000314235	Transcript	.	.	ENSG00000171121	6287	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious_low_confidence(0)	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA98	SNV	KCNMB3,start_lost,p.Met1?,ENST00000314235,;KCNMB3,5_prime_UTR_variant,,ENST00000392685,;KCNMB3,intron_variant,,ENST00000349697,;KCNMB3,intron_variant,,ENST00000485523,;KCNMB3,intron_variant,,ENST00000497599,;KCNMB3,intron_variant,,ENST00000392686,;	515	102	88	SUCCESS
TTC21A	199223	.	GRCh37	3	39159608	39159608	+	synonymous_variant	Silent	SNP	C	C	T	rs765583659	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	32	74	0	ENST00000431162.2:c.765C>T	p.Thr255=	p.T255=	ENST00000431162		255	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46800.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAACCGTGCA	NONE	byFrequency	.	hmmpanther:PTHR14699:SF2,hmmpanther:PTHR14699	.	.	ENSP00000398211	.	7/29	.	.	.	.	.	.	.	.	rs765583659,COSM255558	7/29	PASS	ENST00000431162	Transcript	.	.	ENSG00000168026	30761	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TT21A_HUMAN	TTC21A	HGNC	.	.	UPI00015D46B9	SNV	TTC21A,synonymous_variant,p.%3D,ENST00000440121,;TTC21A,synonymous_variant,p.%3D,ENST00000301819,;TTC21A,synonymous_variant,p.%3D,ENST00000431162,;TTC21A,synonymous_variant,p.%3D,ENST00000430597,;TTC21A,3_prime_UTR_variant,,ENST00000431559,;TTC21A,non_coding_transcript_exon_variant,,ENST00000493337,;TTC21A,non_coding_transcript_exon_variant,,ENST00000479954,;TTC21A,non_coding_transcript_exon_variant,,ENST00000459702,;	899	74	66	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913403	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	53	132	0	ENST00000349496.5:c.110C>A	p.Ser37Tyr	p.S37Y	ENST00000349496	NM_001904.3	37	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTGGTG	SITE|p.S37Y|c.110C>A|37,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S37A|c.109T>G|67,CODON|p.S37P|c.109T>C|30,CODON|p.S37C|c.110C>G|157,CODON|p.S37F|c.110C>T|201,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41A|c.121A>G|828,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5666,COSM5679,COSM5662	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.986)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	390	132	113	SUCCESS
PRSS42	0	.	GRCh37	3	46871983	46871983	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	74	0	ENST00000429665.1:c.793G>A	p.Gly265Arg	p.G265R	ENST00000429665	NM_182702.1	265	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46816.1	793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCCTAGA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF62,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000401701	.	5/5	.	.	.	.	.	.	.	.	COSM3594588	5/5	PASS	ENST00000429665	Transcript	.	.	ENSG00000178055	30716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PRS42_HUMAN	PRSS42	HGNC	.	.	UPI00001B2328	SNV	PRSS42,missense_variant,p.Gly265Arg,ENST00000429665,;PRSS42,missense_variant,p.Gly92Glu,ENST00000447340,;	793	74	57	SUCCESS
SETD2	29072	.	GRCh37	3	47161670	47161670	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	23	33	0	ENST00000409792.3:c.4454+2T>G		p.X1485_splice	ENST00000409792	NM_014159.6	1485		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2749.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTACCTTT	NONE	.	.	.	.	.	ENSP00000386759	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	HIGH	3/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,splice_donor_variant,,ENST00000409792,;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,splice_donor_variant,,ENST00000445387,;SETD2,splice_donor_variant,,ENST00000330022,;SETD2,splice_donor_variant,,ENST00000431180,;	.	33	41	SUCCESS
AMIGO3	386724	.	GRCh37	3	49755432	49755432	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	43	0	ENST00000320431.7:c.1467C>A	p.Gly489=	p.G489=	ENST00000320431	NM_198722.2	489	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33759.1	1467	RADIA|MUTECT|VARSCANS	.	TCAGAGCCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF62	.	.	ENSP00000439268	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000535833	Transcript	.	.	ENSG00000176020	24075	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMGO3_HUMAN	AMIGO3	HGNC	.	.	UPI00000622D6	SNV	AMIGO3,synonymous_variant,p.%3D,ENST00000320431,;AMIGO3,synonymous_variant,p.%3D,ENST00000535833,;GMPPB,3_prime_UTR_variant,,ENST00000480687,;RNF123,intron_variant,,ENST00000327697,;RNF123,intron_variant,,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,;GMPPB,downstream_gene_variant,,ENST00000308388,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,intron_variant,,ENST00000487805,;RNF123,intron_variant,,ENST00000457726,;RNF123,intron_variant,,ENST00000486102,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000444689,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;	4918	43	51	SUCCESS
BHLHE40	8553	.	GRCh37	3	5022091	5022091	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	44	91	0	ENST00000256495.3:c.256A>C	p.Thr86Pro	p.T86P	ENST00000256495	NM_003670.2	86	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS2565.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTACAGTA	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF3,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000256495	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000256495	Transcript	.	.	ENSG00000134107	1046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	deleterious(0)	.	BHE40_HUMAN	BHLHE40	HGNC	Q6IB83_HUMAN	.	UPI0000126923	SNV	BHLHE40,missense_variant,p.Thr86Pro,ENST00000256495,;BHLHE40-AS1,upstream_gene_variant,,ENST00000441386,;BHLHE40-AS1,upstream_gene_variant,,ENST00000434530,;BHLHE40-AS1,upstream_gene_variant,,ENST00000420832,;BHLHE40,splice_region_variant,,ENST00000467610,;BHLHE40,splice_region_variant,,ENST00000460806,;	859	91	96	SUCCESS
HYAL3	8372	.	GRCh37	3	50336718	50336718	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	30	0	ENST00000336307.1:c.-92C>T		p.*31*	ENST00000336307	NM_003549.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43095.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGGACTC	NONE	.	.	.	.	.	ENSP00000346927	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000354862	Transcript	.	.	ENSG00000243477	30252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAT6_HUMAN	NAT6	HGNC	Q6IAP1_HUMAN,C9JL88_HUMAN,C9J451_HUMAN	.	UPI00001BD92D	SNV	NAT6,5_prime_UTR_variant,,ENST00000443842,;HYAL3,5_prime_UTR_variant,,ENST00000336307,;NAT6,5_prime_UTR_variant,,ENST00000443094,;NAT6,5_prime_UTR_variant,,ENST00000354862,;HYAL3,5_prime_UTR_variant,,ENST00000415204,;NAT6,upstream_gene_variant,,ENST00000417393,;HYAL3,upstream_gene_variant,,ENST00000450982,;HYAL1,downstream_gene_variant,,ENST00000452672,;HYAL1,downstream_gene_variant,,ENST00000418723,;HYAL3,upstream_gene_variant,,ENST00000435141,;HYAL1,downstream_gene_variant,,ENST00000395143,;HYAL1,downstream_gene_variant,,ENST00000447605,;NAT6,upstream_gene_variant,,ENST00000442620,;HYAL3,upstream_gene_variant,,ENST00000359051,;HYAL1,downstream_gene_variant,,ENST00000457214,;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,;NAT6,upstream_gene_variant,,ENST00000450489,;HYAL1,downstream_gene_variant,,ENST00000395144,;HYAL3,upstream_gene_variant,,ENST00000513170,;NAT6,upstream_gene_variant,,ENST00000452674,;	130	30	28	SUCCESS
SLMAP	7871	.	GRCh37	3	57902849	57902849	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	119	237	0	ENST00000428312.1:c.2259+45A>G		p.*753*	ENST00000428312				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33774.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAAAGCCAA	NONE	.	.	.	.	.	ENSP00000295951	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295951	Transcript	.	.	ENSG00000163681	16643	.	.	MODIFIER	20/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,synonymous_variant,p.%3D,ENST00000438794,;SLMAP,synonymous_variant,p.%3D,ENST00000416870,;SLMAP,intron_variant,,ENST00000494088,;SLMAP,intron_variant,,ENST00000449503,;SLMAP,intron_variant,,ENST00000460223,;SLMAP,intron_variant,,ENST00000417128,;SLMAP,intron_variant,,ENST00000442599,;SLMAP,intron_variant,,ENST00000295952,;SLMAP,intron_variant,,ENST00000495364,;SLMAP,intron_variant,,ENST00000416658,;SLMAP,intron_variant,,ENST00000428312,;SLMAP,intron_variant,,ENST00000295951,;SLMAP,downstream_gene_variant,,ENST00000461354,;SLMAP,downstream_gene_variant,,ENST00000466255,;SLMAP,downstream_gene_variant,,ENST00000472546,;SLMAP,intron_variant,,ENST00000497084,;SLMAP,downstream_gene_variant,,ENST00000459654,;SLMAP,downstream_gene_variant,,ENST00000476471,;	.	237	263	SUCCESS
PCDH10	57575	.	GRCh37	4	134072506	134072506	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	67	0	ENST00000264360.5:c.1211G>T	p.Arg404Leu	p.R404L	ENST00000264360	NM_032961.1	404	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS34063.1	1211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCGCCTCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000264360	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.64)	.	deleterious(0.01)	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,missense_variant,p.Arg404Leu,ENST00000264360,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;PCDH10,upstream_gene_variant,,ENST00000511112,;	2037	67	71	SUCCESS
TTC29	83894	.	GRCh37	4	147724829	147724829	+	synonymous_variant	Silent	SNP	G	G	A	rs1329567183	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	38	0	ENST00000325106.4:c.1110C>T	p.Tyr370=	p.Y370=	ENST00000325106	NM_031956.2	370	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS47141.1	1110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGTAGTA	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR10098,Pfam_domain:PF13424,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000316740	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000325106	Transcript	.	.	ENSG00000137473	29936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC29_HUMAN	TTC29	HGNC	D6RJF6_HUMAN	.	UPI00001AE7CF	SNV	TTC29,synonymous_variant,p.%3D,ENST00000504425,;TTC29,synonymous_variant,p.%3D,ENST00000398886,;TTC29,synonymous_variant,p.%3D,ENST00000513335,;TTC29,synonymous_variant,p.%3D,ENST00000325106,;TTC29,non_coding_transcript_exon_variant,,ENST00000506019,;TTC29,3_prime_UTR_variant,,ENST00000508306,;	1337	38	47	SUCCESS
LGI2	55203	.	GRCh37	4	25032262	25032264	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-	rs761373892	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	CAG	CAG	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	54	0	ENST00000382114.4:c.52_54del	p.Leu18del	p.L18del	ENST00000382114	NM_018176.3	18	CTG/-	0	-:0.048	.	.	.	.	-	L/-	protein_coding	YES	CCDS3431.1	52-54	INDELOCATOR|VARSCANI	.	GGCGCCCAGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257	.	-:0.0539	ENSP00000371548	.	1/8	.	.	.	.	.	.	.	.	rs761373892	1/8	common_in_exac	ENST00000382114	Transcript	.	.	ENSG00000153012	18710	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LGI2_HUMAN	LGI2	HGNC	.	.	UPI0000047256	deletion	LGI2,inframe_deletion,p.Leu18del,ENST00000382114,;LGI2,inframe_deletion,p.Leu9del,ENST00000512108,;	238-240	54	47	SUCCESS
SMIM20	389203	.	GRCh37	4	25930802	25930802	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	46	65	0	ENST00000506197.2:c.194del	p.Gly65AlafsTer12	p.G65Afs*12	ENST00000506197	NM_001145432.1	65	Ggc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS47038.1	193	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATTTGGCAGG	NONE	.	.	.	.	.	ENSP00000427407	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000506197	Transcript	.	.	ENSG00000250317	37260	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMI20_HUMAN	SMIM20	HGNC	.	.	UPI000015EE59	deletion	SMIM20,frameshift_variant,p.Gly46AlafsTer12,ENST00000514384,;SMIM20,frameshift_variant,p.Gly65AlafsTer12,ENST00000506197,;SMIM20,non_coding_transcript_exon_variant,,ENST00000515764,;SMIM20,non_coding_transcript_exon_variant,,ENST00000522137,;	303	65	166	SUCCESS
MSX1	4487	.	GRCh37	4	4861477	4861477	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	17	0	ENST00000382723.4:c.-150C>T		p.*50*	ENST00000382723	NM_002448.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3378.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTGGCCTGCT	NONE	.	.	.	.	.	ENSP00000372170	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000382723	Transcript	1	.	ENSG00000163132	7391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MSX1_HUMAN	MSX1	HGNC	E9KY19_HUMAN,E9KY18_HUMAN,E9KY17_HUMAN,E9KY16_HUMAN,E9KY15_HUMAN,E9KY14_HUMAN,E9KY13_HUMAN,E9KY12_HUMAN,E9KY11_HUMAN,E9KY10_HUMAN,E9KY09_HUMAN,E9KY08_HUMAN,E9KY07_HUMAN,E9KY06_HUMAN,E9KY05_HUMAN,E9KY04_HUMAN,E9KY03_HUMAN,E9KY02_HUMAN,E9KY01_HUMAN,E9KY00_HUMAN,E9KXZ9_HUMAN,E9KXZ8_HUMAN,E9KXZ7_HUMAN,E9KXZ6_HUMAN,E9KXZ5_HUMAN,E9KXZ4_HUMAN,E9KXZ3_HUMAN,E9KXZ2_HUMAN,E9KXZ1_HUMAN,E9KXZ0_HUMAN,E9KXY9_HUMAN,E9KXY8_HUMAN,E9KXY7_HUMAN,E9KXY6_HUMAN,E9KXY5_HUMAN,E9KXY4_HUMAN,E9KXY3_HUMAN,E9KXY2_HUMAN,E9KXY1_HUMAN,E9KXY0_HUMAN,E9KXX9_HUMAN,E9KXX8_HUMAN,E9KXX7_HUMAN,E9KXX6_HUMAN,E9KXX5_HUMAN,E9KXX4_HUMAN,E9KXX3_HUMAN,E9KXX2_HUMAN,E9KXX1_HUMAN,E9KXX0_HUMAN,E9KXW9_HUMAN,E9KXW8_HUMAN,E9KXW7_HUMAN,E9KXW6_HUMAN,E9KXW5_HUMAN,E9KXW4_HUMAN,E9KXW3_HUMAN,E9KXW2_HUMAN,E9KXW1_HUMAN,E9KXW0_HUMAN,E9KXV9_HUMAN,E9KXV8_HUMAN,E9KXV7_HUMAN,E9KXV6_HUMAN,E9KXV5_HUMAN,E9KXV4_HUMAN,E9KXV3_HUMAN,E9KXV2_HUMAN,E9KXV1_HUMAN,E9KXV0_HUMAN,E9KXU9_HUMAN,E9KXU8_HUMAN,E9KXU7_HUMAN,E9KXU6_HUMAN,E9KXU5_HUMAN,E9KXU4_HUMAN,E9KXU3_HUMAN,E9KXU2_HUMAN,E9KXU1_HUMAN,E9KXU0_HUMAN,E9KXT9_HUMAN,E9KXT8_HUMAN,E9KXT7_HUMAN,E9KXT6_HUMAN,E9KXT5_HUMAN,E9KXT4_HUMAN,E9KXT3_HUMAN,E9KXT2_HUMAN,E9KXT1_HUMAN,E9KXT0_HUMAN,E9KXS9_HUMAN,E9KXS8_HUMAN,E9KXS7_HUMAN,E9KXS6_HUMAN,A0SZU5_HUMAN	.	UPI0000D474F4	SNV	MSX1,5_prime_UTR_variant,,ENST00000382723,;MSX1,upstream_gene_variant,,ENST00000468421,;	85	17	35	SUCCESS
TADA2B	93624	.	GRCh37	4	7056326	7056326	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	51	107	0	ENST00000310074.7:c.808G>T	p.Glu270Ter	p.E270*	ENST00000310074	NM_152293.2	270	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47007.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGAGTTT	NONE	.	.	hmmpanther:PTHR12374,PIRSF_domain:PIRSF025024	.	.	ENSP00000308022	.	2/2	.	.	.	.	.	.	.	.	COSM734872	2/2	PASS	ENST00000310074	Transcript	.	.	ENSG00000173011	30781	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TAD2B_HUMAN	TADA2B	HGNC	D6RJ05_HUMAN,D6RC20_HUMAN	.	UPI00001996F4	SNV	TADA2B,stop_gained,p.Glu178Ter,ENST00000515646,;TADA2B,stop_gained,p.Glu270Ter,ENST00000310074,;TADA2B,stop_gained,p.Glu195Ter,ENST00000512388,;TADA2B,downstream_gene_variant,,ENST00000506692,;GRPEL1,downstream_gene_variant,,ENST00000264954,;TADA2B,downstream_gene_variant,,ENST00000510704,;	997	107	119	SUCCESS
TRIM36	55521	.	GRCh37	5	114469810	114469810	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	61	0	ENST00000282369.3:c.1281C>T	p.Ser427=	p.S427=	ENST00000282369	NM_018700.3	427	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4115.1	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGCTCTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF29	.	.	ENSP00000282369	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000282369	Transcript	.	.	ENSG00000152503	16280	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI36_HUMAN	TRIM36	HGNC	E9PBG3_HUMAN	.	UPI000013DCD9	SNV	TRIM36,synonymous_variant,p.%3D,ENST00000514154,;TRIM36,synonymous_variant,p.%3D,ENST00000282369,;TRIM36,synonymous_variant,p.%3D,ENST00000513154,;	1403	61	60	SUCCESS
SLC23A1	9963	.	GRCh37	5	138713935	138713935	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	104	229	0	ENST00000348729.3:c.1285G>C	p.Gly429Arg	p.G429R	ENST00000348729	NM_005847.4	429	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS4213.1	1297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCCAGGA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF00860,hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF21	.	.	ENSP00000302851	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000353963	Transcript	.	.	ENSG00000170482	10974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	S23A1_HUMAN	SLC23A1	HGNC	.	.	UPI000020C6FE	SNV	SLC23A1,missense_variant,p.Gly429Arg,ENST00000348729,;SLC23A1,missense_variant,p.Gly433Arg,ENST00000353963,;SLC23A1,downstream_gene_variant,,ENST00000508270,;SLC23A1,downstream_gene_variant,,ENST00000504513,;SLC23A1,downstream_gene_variant,,ENST00000503919,;SLC23A1,downstream_gene_variant,,ENST00000502863,;SLC23A1,downstream_gene_variant,,ENST00000506512,;	1336	229	255	SUCCESS
RARS	0	.	GRCh37	5	167919732	167919732	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	54	114	0	ENST00000231572.3:c.249C>G	p.Val83=	p.V83=	ENST00000231572	NM_002887.3	83	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4367.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCTTTGG	BUFFER|p.Q81Q|c.243A>G|3	.	.	Superfamily_domains:SSF55190,SMART_domains:SM01016,Pfam_domain:PF03485,TIGRFAM_domain:TIGR00456,Gene3D:3.30.1360.70,hmmpanther:PTHR11956:SF1,hmmpanther:PTHR11956,HAMAP:MF_00123	.	.	ENSP00000231572	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000231572	Transcript	.	.	ENSG00000113643	9870	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYRC_HUMAN	RARS	HGNC	F5H3T8_HUMAN	.	UPI0000136648	SNV	RARS,synonymous_variant,p.%3D,ENST00000231572,;RARS,5_prime_UTR_variant,,ENST00000538719,;RARS,upstream_gene_variant,,ENST00000520421,;RARS,synonymous_variant,p.%3D,ENST00000520013,;RARS,synonymous_variant,p.%3D,ENST00000522834,;RARS,3_prime_UTR_variant,,ENST00000521329,;RARS,non_coding_transcript_exon_variant,,ENST00000519346,;RARS,non_coding_transcript_exon_variant,,ENST00000524082,;RARS,non_coding_transcript_exon_variant,,ENST00000521939,;RARS,upstream_gene_variant,,ENST00000518757,;	303	114	99	SUCCESS
NIPBL	25836	.	GRCh37	5	36971138	36971138	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs771594948	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	78	178	0	ENST00000282516.8:c.771C>T		p.X257_splice	ENST00000282516	NM_133433.3	257	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS3920.1	771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACGTATG	NONE	byFrequency	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	7/47	.	.	.	.	.	.	.	.	rs771594948	7/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;NIPBL,splice_region_variant,,ENST00000504430,;NIPBL,splice_region_variant,,ENST00000505998,;	1270	178	185	SUCCESS
KIAA0947	0	.	GRCh37	5	5461382	5461382	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	49	86	0	ENST00000296564.7:c.1935C>T	p.Pro645=	p.P645=	ENST00000296564	NM_015325.2	645	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47187.1	1935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCCCAGTC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,synonymous_variant,p.%3D,ENST00000296564,;	2157	86	103	SUCCESS
ERMARD	55780	.	GRCh37	6	170181592	170181592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	78	175	0	ENST00000366773.3:c.2020A>G	p.Ser674Gly	p.S674G	ENST00000366773	NM_018341.2	674	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS34576.1	2020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAAGTAAA	NONE	.	.	hmmpanther:PTHR31701,hmmpanther:PTHR31701:SF2	.	.	ENSP00000355735	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000366773	Transcript	.	.	ENSG00000130023	21056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0.02)	.	EMARD_HUMAN	ERMARD	HGNC	K7EMW5_HUMAN,K7EME8_HUMAN,F8WAF1_HUMAN	.	UPI000020DF6E	SNV	ERMARD,missense_variant,p.Ser548Gly,ENST00000392095,;ERMARD,missense_variant,p.Ser674Gly,ENST00000366773,;ERMARD,missense_variant,p.Ser627Gly,ENST00000366772,;ERMARD,missense_variant,p.Ser538Gly,ENST00000588451,;ERMARD,missense_variant,p.Ser601Gly,ENST00000418781,;ERMARD,non_coding_transcript_exon_variant,,ENST00000366771,;ERMARD,non_coding_transcript_exon_variant,,ENST00000477995,;ERMARD,downstream_gene_variant,,ENST00000492738,;	2053	175	83	SUCCESS
CMAHP	8418	.	GRCh37	6	25108883	25108883	+	non_coding_transcript_exon_variant	RNA	DEL	C	C	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	90	0	ENST00000377989.4:n.1314del		p.*438*	ENST00000377989				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCTTCATAGG	NONE	.	.	.	.	.	.	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000377989	Transcript	.	.	ENSG00000168405	2098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CMAHP	HGNC	.	.	.	deletion	CMAHP,non_coding_transcript_exon_variant,,ENST00000377989,;CMAHP,non_coding_transcript_exon_variant,,ENST00000493981,;CMAHP,upstream_gene_variant,,ENST00000493257,;CMAHP,downstream_gene_variant,,ENST00000458373,;CMAHP,non_coding_transcript_exon_variant,,ENST00000490939,;CMAHP,non_coding_transcript_exon_variant,,ENST00000436589,;CMAHP,non_coding_transcript_exon_variant,,ENST00000377993,;CMAHP,non_coding_transcript_exon_variant,,ENST00000424282,;	1314	90	128	SUCCESS
ZBTB9	221504	.	GRCh37	6	33423555	33423555	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	23	60	0	ENST00000395064.2:c.681del	p.Ser228GlnfsTer28	p.S228Qfs*28	ENST00000395064	NM_152735.3	226	caG/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS4780.1	678	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACCAGGGGTC	NONE	.	.	hmmpanther:PTHR24414:SF24,hmmpanther:PTHR24414	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	deletion	ZBTB9,frameshift_variant,p.Ser228GlnfsTer28,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000428982,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	946	60	84	SUCCESS
SCUBE3	222663	.	GRCh37	6	35207632	35207632	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	39	44	0	ENST00000274938.7:c.933C>G	p.Ile311Met	p.I311M	ENST00000274938	NM_152753.2	311	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS4800.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCAATGA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2,PROSITE_patterns:PS01186,Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000274938	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000274938	Transcript	.	.	ENSG00000146197	13655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious(0.02)	.	SCUB3_HUMAN	SCUBE3	HGNC	Q7Z3I8_HUMAN	.	UPI0000074423	SNV	SCUBE3,missense_variant,p.Ile327Met,ENST00000394681,;SCUBE3,missense_variant,p.Ile311Met,ENST00000274938,;	933	44	70	SUCCESS
GPR111	0	.	GRCh37	6	47647896	47647896	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	88	191	0	ENST00000296862.1:c.561A>G	p.Leu187=	p.L187=	ENST00000296862		187	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	.	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTACAAAA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF54	.	.	ENSP00000296862	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000296862	Transcript	.	.	ENSG00000164393	18991	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP111_HUMAN	GPR111	HGNC	.	.	UPI000007411C	SNV	GPR111,synonymous_variant,p.%3D,ENST00000398742,;GPR111,synonymous_variant,p.%3D,ENST00000296862,;GPR111,synonymous_variant,p.%3D,ENST00000507065,;GPR111,synonymous_variant,p.%3D,ENST00000467205,;	561	191	202	SUCCESS
PRSS1	5644	.	GRCh37	7	142460403	142460403	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	68	171	0	ENST00000311737.7:c.576C>A	p.Gly192=	p.G192=	ENST00000311737	NM_002769.4	192	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5872.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCAAGGA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,splice_donor_variant,,ENST00000492062,;PRSS1,synonymous_variant,p.%3D,ENST00000486171,;PRSS1,synonymous_variant,p.%3D,ENST00000311737,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	582	172	191	SUCCESS
SSPO	0	.	GRCh37	7	149483308	149483308	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	37	0	ENST00000378016.2:n.3376G>A		p.*1126*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATGGAGAT	NONE	.	.	.	.	.	.	.	23/109	.	.	.	.	.	.	.	.	.	23/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,downstream_gene_variant,,ENST00000477518,;SSPO,downstream_gene_variant,,ENST00000486824,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;SSPO,downstream_gene_variant,,ENST00000493502,;	3376	37	29	SUCCESS
SHH	6469	.	GRCh37	7	155595681	155595681	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	356	337	795	0	ENST00000297261.2:c.1302G>A	p.Trp434Ter	p.W434*	ENST00000297261	NM_000193.2	434	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS5942.1	1302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTACCAGTG	NONE	.	.	hmmpanther:PTHR11889:SF36,hmmpanther:PTHR11889,Pfam_domain:PF01079,PIRSF_domain:PIRSF009400,Prints_domain:PR00632	.	.	ENSP00000297261	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297261	Transcript	.	.	ENSG00000164690	10848	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHH_HUMAN	SHH	HGNC	D9ZGF9_HUMAN	.	UPI0000135942	SNV	SHH,stop_gained,p.Trp434Ter,ENST00000297261,;SHH,intron_variant,,ENST00000430104,;SHH,downstream_gene_variant,,ENST00000472308,;SHH,intron_variant,,ENST00000441114,;SHH,intron_variant,,ENST00000435425,;	1453	795	693	SUCCESS
DFNA5	0	.	GRCh37	7	24784273	24784273	+	synonymous_variant	Silent	SNP	C	C	T	rs1313102640	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	64	0	ENST00000342947.3:c.312G>A	p.Gly104=	p.G104=	ENST00000342947	NM_004403.2	104	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5389.1	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCCCAG	NONE	.	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	.	.	ENSP00000339587	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,synonymous_variant,p.%3D,ENST00000409775,;DFNA5,synonymous_variant,p.%3D,ENST00000342947,;DFNA5,5_prime_UTR_variant,,ENST00000414428,;DFNA5,5_prime_UTR_variant,,ENST00000545231,;DFNA5,5_prime_UTR_variant,,ENST00000419307,;DFNA5,5_prime_UTR_variant,,ENST00000409970,;DFNA5,synonymous_variant,p.%3D,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000473990,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;	738	64	109	SUCCESS
PDE1C	5137	.	GRCh37	7	32110126	32110126	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	18	0	ENST00000321453.7:c.-2-119G>A		p.*1*	ENST00000321453	NM_001191059.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55100.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCGGCGC	NONE	.	.	.	.	.	ENSP00000379496	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODIFIER	3/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,5_prime_UTR_variant,,ENST00000396191,;PDE1C,5_prime_UTR_variant,,ENST00000396189,;PDE1C,5_prime_UTR_variant,,ENST00000396182,;PDE1C,intron_variant,,ENST00000396184,;PDE1C,intron_variant,,ENST00000396193,;PDE1C,intron_variant,,ENST00000321453,;PDE1C,non_coding_transcript_exon_variant,,ENST00000495221,;PDE1C,intron_variant,,ENST00000464881,;	.	18	48	SUCCESS
MMD2	221938	.	GRCh37	7	4998686	4998686	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	58	118	0	ENST00000404774.3:c.-38C>T		p.*13*	ENST00000404774	NM_001100600.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47529.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGCGCGG	NONE	.	.	.	.	.	ENSP00000384690	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000404774	Transcript	.	.	ENSG00000136297	30133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAQRA_HUMAN	MMD2	HGNC	.	.	UPI000016199F	SNV	MMD2,5_prime_UTR_variant,,ENST00000406755,;MMD2,5_prime_UTR_variant,,ENST00000401401,;MMD2,5_prime_UTR_variant,,ENST00000404774,;	158	118	182	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145772918	145772918	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs751802517	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	23	0	ENST00000276826.5:c.1552G>C	p.Val518Leu	p.V518L	ENST00000276826		518	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS34971.1	1552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACAAGCA	NONE	.	.	hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177	.	.	ENSP00000366522	.	4/11	.	.	.	.	.	.	.	.	rs751802517	4/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.29)	.	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,missense_variant,p.Val518Leu,ENST00000540274,;ARHGAP39,missense_variant,p.Val518Leu,ENST00000276826,;ARHGAP39,missense_variant,p.Val518Leu,ENST00000377307,;ARHGAP39,upstream_gene_variant,,ENST00000528810,;AC084125.1,upstream_gene_variant,,ENST00000536320,;	1637	23	52	SUCCESS
ANK1	286	.	GRCh37	8	41577243	41577243	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	58	0	ENST00000347528.4:c.1043G>A	p.Cys348Tyr	p.C348Y	ENST00000347528	NM_020477.2	348	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47849.1	1142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACAGTGG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000265709	.	10/43	.	.	.	.	.	.	.	.	.	10/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.02)	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Cys381Tyr,ENST00000265709,;ANK1,missense_variant,p.Cys348Tyr,ENST00000352337,;ANK1,missense_variant,p.Cys348Tyr,ENST00000396942,;ANK1,missense_variant,p.Cys348Tyr,ENST00000379758,;ANK1,missense_variant,p.Cys348Tyr,ENST00000289734,;ANK1,missense_variant,p.Cys348Tyr,ENST00000347528,;ANK1,missense_variant,p.Cys348Tyr,ENST00000396945,;	1424	58	63	SUCCESS
RP1	6101	.	GRCh37	8	55539105	55539105	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	78	120	0	ENST00000220676.1:c.2663C>G	p.Ala888Gly	p.A888G	ENST00000220676	NM_006269.1	888	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS6160.1	2663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCTACAA	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.39)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Ala888Gly,ENST00000220676,;	2811	120	161	SUCCESS
FNBP1	23048	.	GRCh37	9	132662721	132662721	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200153012	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	77	0	ENST00000446176.2:c.1534G>A	p.Ala512Thr	p.A512T	ENST00000446176	NM_015033.2	512	Gcc/Acc	0	G:0.0005	G:0	.	G:0.0014	.	T	A/T	protein_coding	YES	CCDS48040.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGCAGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12602:SF21,hmmpanther:PTHR12602	G:0	G:0.0004	ENSP00000413625	G:0.001	14/17	.	.	.	.	.	.	.	.	rs200153012	14/17	PASS	ENST00000446176	Transcript	.	G:0.0004	ENSG00000187239	17069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.509)	G:0	tolerated(0.24)	.	FNBP1_HUMAN	FNBP1	HGNC	B7ZL12_HUMAN	.	UPI000022408C	SNV	FNBP1,missense_variant,p.Ala483Thr,ENST00000355681,;FNBP1,missense_variant,p.Ala459Thr,ENST00000449089,;FNBP1,missense_variant,p.Ala503Thr,ENST00000420781,;FNBP1,missense_variant,p.Ala512Thr,ENST00000446176,;FNBP1,missense_variant,p.Ala140Thr,ENST00000443566,;FNBP1,non_coding_transcript_exon_variant,,ENST00000462766,;FNBP1,non_coding_transcript_exon_variant,,ENST00000478129,;	1721	77	64	SUCCESS
FCN1	2219	.	GRCh37	9	137804337	137804337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	23	22	0	ENST00000371806.3:c.593C>G	p.Ala198Gly	p.A198G	ENST00000371806	NM_002003.3	198	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS6985.1	593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGCAGTC	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF165,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000360871	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000371806	Transcript	.	.	ENSG00000085265	3623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.01)	.	FCN1_HUMAN	FCN1	HGNC	Q92531_HUMAN	.	UPI000012A5A7	SNV	FCN1,missense_variant,p.Ala198Gly,ENST00000371806,;	685	22	37	SUCCESS
CCDC183	84960	.	GRCh37	9	139694929	139694929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	72	0	ENST00000338005.6:c.527T>A	p.Leu176Gln	p.L176Q	ENST00000338005	NM_001039374.4	176	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS43906.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGGATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21694:SF16,hmmpanther:PTHR21694	.	.	ENSP00000338013	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000338005	Transcript	.	.	ENSG00000213213	28236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.24)	.	K1984_HUMAN	CCDC183	HGNC	.	.	UPI00015E02CD	SNV	CCDC183,missense_variant,p.Leu176Gln,ENST00000338005,;RP11-216L13.17,missense_variant,p.Leu206Gln,ENST00000456614,;CCDC183-AS1,downstream_gene_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000371682,;CCDC183,upstream_gene_variant,,ENST00000496839,;CCDC183,missense_variant,p.Leu176Gln,ENST00000479371,;CCDC183,non_coding_transcript_exon_variant,,ENST00000609471,;RP11-216L13.19,non_coding_transcript_exon_variant,,ENST00000415992,;RP11-216L13.18,non_coding_transcript_exon_variant,,ENST00000471502,;CCDC183,non_coding_transcript_exon_variant,,ENST00000481601,;CCDC183,non_coding_transcript_exon_variant,,ENST00000430612,;	562	72	78	SUCCESS
PRKACG	5568	.	GRCh37	9	71629038	71629039	+	5_prime_UTR_variant	5'UTR	INS	-	-	GCGGCG	rs746176722	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	16	0	ENST00000377276.2:c.-31_-30insCGCCGC		p.*11*	ENST00000377276	NM_002732.3			0	.	.	.	.	.	GCGGCG	.	protein_coding	YES	CCDS6625.1	.	INDELOCATOR|VARSCANI	.	GGTCTCGCGGC	NONE	byCluster	.	.	.	.	ENSP00000366488	.	1/1	.	.	.	.	.	.	.	.	rs752732570	1/1	PASS	ENST00000377276	Transcript	.	.	ENSG00000165059	9382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAPCG_HUMAN	PRKACG	HGNC	.	.	UPI000013E448	insertion	PRKACG,5_prime_UTR_variant,,ENST00000377276,;PIP5K1B,downstream_gene_variant,,ENST00000265382,;PIP5K1B,downstream_gene_variant,,ENST00000478500,;	1-2	16	15	SUCCESS
APBA1	320	.	GRCh37	9	72131502	72131502	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	14	0	ENST00000265381.4:c.625G>A	p.Ala209Thr	p.A209T	ENST00000265381	NM_001163.3	209	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6630.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCGTCCA	NONE	.	.	hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	.	.	ENSP00000265381	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.4)	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,missense_variant,p.Ala209Thr,ENST00000265381,;	848	14	22	SUCCESS
ARMCX6	54470	.	GRCh37	X	100871397	100871397	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	85	0	ENST00000361910.4:c.214G>A	p.Asp72Asn	p.D72N	ENST00000361910	NM_019007.3	72	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS14488.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCCTCAG	NONE	.	.	hmmpanther:PTHR15712:SF6,hmmpanther:PTHR15712	.	.	ENSP00000444537	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000539247	Transcript	.	.	ENSG00000198960	26094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.24)	.	ARMX6_HUMAN	ARMCX6	HGNC	.	.	UPI00001BBFA2	SNV	ARMCX6,missense_variant,p.Asp72Asn,ENST00000538627,;ARMCX6,missense_variant,p.Asp72Asn,ENST00000361910,;ARMCX6,missense_variant,p.Asp72Asn,ENST00000539247,;ARMCX6,non_coding_transcript_exon_variant,,ENST00000467089,;ARMCX6,non_coding_transcript_exon_variant,,ENST00000495964,;ARMCX6,intron_variant,,ENST00000497931,;ARMCX6,intron_variant,,ENST00000462302,;ARMCX6,downstream_gene_variant,,ENST00000494624,;	647	85	92	SUCCESS
COL4A5	1287	.	GRCh37	X	107821329	107821329	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	222	461	0	ENST00000361603.2:c.667C>T	p.Gln223Ter	p.Q223*	ENST00000361603	NM_000495.4	223	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS35366.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCAGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023	.	.	ENSP00000331902	.	12/53	.	.	.	.	.	.	.	.	.	12/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,stop_gained,p.Gln223Ter,ENST00000328300,;COL4A5,stop_gained,p.Gln223Ter,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000483338,;	911	461	516	SUCCESS
GUCY2F	2986	.	GRCh37	X	108718938	108718938	+	synonymous_variant	Silent	SNP	C	C	T	rs755144575	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	169	389	0	ENST00000218006.2:c.228G>A	p.Ala76=	p.A76=	ENST00000218006	NM_001522.2	76	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14545.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCGCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR11920:SF278,hmmpanther:PTHR11920,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000218006	.	2/20	.	.	.	.	.	.	.	.	rs755144575	2/20	PASS	ENST00000218006	Transcript	.	.	ENSG00000101890	4691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC2F_HUMAN	GUCY2F	HGNC	.	.	UPI000013C740	SNV	GUCY2F,synonymous_variant,p.%3D,ENST00000218006,;	520	389	370	SUCCESS
TENM1	10178	.	GRCh37	X	123870898	123870898	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	73	0	ENST00000371130.3:c.685C>A	p.Pro229Thr	p.P229T	ENST00000371130	NM_014253.3	229	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55488.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGCTGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51361,hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,Pfam_domain:PF06484	.	.	ENSP00000403954	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Pro229Thr,ENST00000422452,;TENM1,missense_variant,p.Pro229Thr,ENST00000371130,;	749	73	84	SUCCESS
RAB39B	116442	.	GRCh37	X	154490389	154490389	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	62	0	ENST00000369454.3:c.341A>T	p.Tyr114Phe	p.Y114F	ENST00000369454	NM_171998.2	114	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS14766.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTAGGGC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF395,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000358466	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369454	Transcript	.	.	ENSG00000155961	16499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.87)	.	RB39B_HUMAN	RAB39B	HGNC	.	.	UPI00000412A6	SNV	RAB39B,missense_variant,p.Tyr114Phe,ENST00000369454,;	642	62	66	SUCCESS
SSX7	280658	.	GRCh37	X	52682011	52682011	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	372	314	641	0	ENST00000298181.5:c.93C>A	p.Tyr31Ter	p.Y31*	ENST00000298181	NM_173358.2	31	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS14343.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGTATTT	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR14112:SF6,hmmpanther:PTHR14112,PROSITE_profiles:PS50806	.	.	ENSP00000298181	.	3/8	.	.	.	.	.	.	.	.	COSM1122866	3/8	PASS	ENST00000298181	Transcript	.	.	ENSG00000187754	19653	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SSX7_HUMAN	SSX7	HGNC	.	.	UPI0000161119	SNV	SSX7,stop_gained,p.Tyr31Ter,ENST00000298181,;RP11-552J9.9,upstream_gene_variant,,ENST00000450868,;	252	641	687	SUCCESS
SMC1A	8243	.	GRCh37	X	53442011	53442011	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	41	95	0	ENST00000322213.4:c.217C>T	p.Pro73Ser	p.P73S	ENST00000322213	NM_001281463.1	73	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS14352.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCTTGC	NONE	.	.	hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170,Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,Superfamily_domains:SSF52540	.	.	ENSP00000323421	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000322213	Transcript	.	.	ENSG00000072501	11111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SMC1A_HUMAN	SMC1A	HGNC	.	.	UPI0000135A4D	SNV	SMC1A,missense_variant,p.Pro51Ser,ENST00000428014,;SMC1A,missense_variant,p.Pro73Ser,ENST00000322213,;SMC1A,missense_variant,p.Pro73Ser,ENST00000375340,;SMC1A,intron_variant,,ENST00000463684,;	345	95	108	SUCCESS
DGAT2L6	347516	.	GRCh37	X	69424178	69424178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	112	219	0	ENST00000333026.3:c.671C>A	p.Ser224Tyr	p.S224Y	ENST00000333026	NM_198512.1	224	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS14397.1	671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTCCTTTG	NONE	.	.	hmmpanther:PTHR12317:SF11,hmmpanther:PTHR12317,Pfam_domain:PF03982	.	.	ENSP00000328036	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000333026	Transcript	.	.	ENSG00000184210	23250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	DG2L6_HUMAN	DGAT2L6	HGNC	.	.	UPI00001C10BF	SNV	DGAT2L6,missense_variant,p.Ser224Tyr,ENST00000333026,;	771	219	228	SUCCESS
CHIC1	53344	.	GRCh37	X	72783364	72783364	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	83	182	0	ENST00000373502.5:c.244C>T	p.Arg82Trp	p.R82W	ENST00000373502	NM_001039840.2	82	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS35335.2	244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCGGAGA	NONE	.	.	hmmpanther:PTHR13005,hmmpanther:PTHR13005:SF2	.	.	ENSP00000362601	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373502	Transcript	.	.	ENSG00000204116	1934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious_low_confidence(0.04)	.	CHIC1_HUMAN	CHIC1	HGNC	B7Z4S5_HUMAN	.	UPI0000160F74	SNV	CHIC1,missense_variant,p.Arg82Trp,ENST00000373502,;CHIC1,missense_variant,p.Arg82Trp,ENST00000373504,;MAP2K4P1,upstream_gene_variant,,ENST00000602584,;CHIC1,missense_variant,p.Arg75Trp,ENST00000498407,;CHIC1,missense_variant,p.Arg27Trp,ENST00000498318,;	321	182	192	SUCCESS
LZTS2	84445	.	GRCh37	10	102766667	102766667	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	8	178	0	ENST00000370220.1:c.1752G>T	p.Arg584=	p.R584=	ENST00000370220		584	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7507.1	1752	MUTECT|MUSE	.	CAGCGGGAGCG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,HAMAP:MF_03026,hmmpanther:PTHR19354:SF4,hmmpanther:PTHR19354,Pfam_domain:PF06818	.	.	ENSP00000359240	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370220	Transcript	.	.	ENSG00000107816	29381	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LZTS2_HUMAN	LZTS2	HGNC	S4R3W7_HUMAN,Q9BRY6_HUMAN,B1AL13_HUMAN,B1AL12_HUMAN,B1AL11_HUMAN	.	UPI00001BD944	SNV	LZTS2,synonymous_variant,p.%3D,ENST00000370223,;LZTS2,synonymous_variant,p.%3D,ENST00000370220,;LZTS2,downstream_gene_variant,,ENST00000429732,;LZTS2,downstream_gene_variant,,ENST00000481129,;LZTS2,downstream_gene_variant,,ENST00000426584,;LZTS2,downstream_gene_variant,,ENST00000454422,;LZTS2,downstream_gene_variant,,ENST00000489526,;PDZD7,downstream_gene_variant,,ENST00000474125,;	4815	178	130	SUCCESS
CUBN	8029	.	GRCh37	10	16982125	16982125	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	19	149	0	ENST00000377833.4:c.5454C>A	p.Leu1818=	p.L1818=	ENST00000377833	NM_001081.3	1818	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7113.1	5454	RADIA|MUTECT|MUSE|VARSCANS	.	TAATTGAGAGG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	37/67	.	.	.	.	.	.	.	.	.	37/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,synonymous_variant,p.%3D,ENST00000377833,;	5520	149	147	SUCCESS
JMJD1C	221037	.	GRCh37	10	64974046	64974046	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	112	0	ENST00000399262.2:c.1881T>G	p.Leu627=	p.L627=	ENST00000399262	NM_032776.1	627	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS41532.1	1881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTAAGTTT	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,synonymous_variant,p.%3D,ENST00000399251,;JMJD1C,synonymous_variant,p.%3D,ENST00000399262,;JMJD1C,synonymous_variant,p.%3D,ENST00000542921,;JMJD1C,synonymous_variant,p.%3D,ENST00000402544,;JMJD1C,downstream_gene_variant,,ENST00000469152,;JMJD1C,downstream_gene_variant,,ENST00000489372,;	2100	112	65	SUCCESS
NUDT13	25961	.	GRCh37	10	74874164	74874164	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	56	0	ENST00000357321.4:c.41T>C	p.Phe14Ser	p.F14S	ENST00000357321	NM_015901.4	14	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS31220.1	41	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTTTGGT	NONE	.	.	hmmpanther:PTHR11383,hmmpanther:PTHR11383:SF3	.	.	ENSP00000349874	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000357321	Transcript	.	.	ENSG00000166321	18827	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.4)	.	NUD13_HUMAN	NUDT13	HGNC	B4E059_HUMAN,B4DV90_HUMAN	.	UPI000004E996	SNV	NUDT13,missense_variant,p.Phe14Ser,ENST00000372997,;NUDT13,missense_variant,p.Phe14Ser,ENST00000357321,;NUDT13,missense_variant,p.Phe14Ser,ENST00000349051,;NUDT13,5_prime_UTR_variant,,ENST00000537969,;NUDT13,5_prime_UTR_variant,,ENST00000544879,;NUDT13,non_coding_transcript_exon_variant,,ENST00000488223,;NUDT13,non_coding_transcript_exon_variant,,ENST00000469925,;	159	56	73	SUCCESS
CPEB3	22849	.	GRCh37	10	93999237	93999237	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	37	260	0	ENST00000265997.4:c.871C>T	p.Pro291Ser	p.P291S	ENST00000265997	NM_014912.4	291	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31246.1	871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGCGAGA	NONE	.	.	hmmpanther:PTHR12566,hmmpanther:PTHR12566:SF7	.	.	ENSP00000265997	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000265997	Transcript	.	.	ENSG00000107864	21746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0.02)	.	CPEB3_HUMAN	CPEB3	HGNC	.	.	UPI000013F7DE	SNV	CPEB3,missense_variant,p.Pro291Ser,ENST00000265997,;CPEB3,missense_variant,p.Pro291Ser,ENST00000412050,;	1044	260	179	SUCCESS
CYP2C18	1562	.	GRCh37	10	96484179	96484179	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	122	0	ENST00000285979.6:c.1038C>G	p.Pro346=	p.P346=	ENST00000285979	NM_000772.2	346	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7435.1	1038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCTACAC	NONE	.	.	hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000285979	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000285979	Transcript	.	.	ENSG00000108242	2620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2CI_HUMAN	CYP2C18	HGNC	Q16750_HUMAN	.	UPI000013DE1D	SNV	CYP2C18,synonymous_variant,p.%3D,ENST00000339022,;CYP2C18,synonymous_variant,p.%3D,ENST00000285979,;CYP2C19,non_coding_transcript_exon_variant,,ENST00000464755,;	1237	122	119	SUCCESS
SFRP5	6425	.	GRCh37	10	99527515	99527515	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144307831	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	77	0	ENST00000266066.3:c.710G>A	p.Arg237His	p.R237H	ENST00000266066	NM_003015.3	237	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7472.1	710	RADIA|MUTECT|MUSE	.	CCTTGCGCTTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50189,hmmpanther:PTHR11309:SF85,hmmpanther:PTHR11309,Gene3D:2.40.50.120,Pfam_domain:PF01759,SMART_domains:SM00643,Superfamily_domains:SSF50242	.	T:0.0001	ENSP00000266066	.	3/3	.	.	.	.	.	.	.	.	rs144307831	3/3	PASS	ENST00000266066	Transcript	.	.	ENSG00000120057	10779	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	SFRP5_HUMAN	SFRP5	HGNC	.	.	UPI000013D6CB	SNV	SFRP5,missense_variant,p.Arg237His,ENST00000266066,;	829	77	64	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103191757	103191757	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	30	180	0	ENST00000375735.2:c.11726-1G>T		p.X3909_splice	ENST00000375735	NM_001080463.1	3909		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44717.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTATAGGTGCC	NONE	.	.	.	.	.	ENSP00000381167	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	HIGH	81/89	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,splice_acceptor_variant,,ENST00000398093,;DYNC2H1,splice_acceptor_variant,,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,splice_acceptor_variant,,ENST00000528670,;	.	180	169	SUCCESS
PHLDB1	23187	.	GRCh37	11	118502074	118502074	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	89	0	ENST00000361417.2:c.1978G>A	p.Ala660Thr	p.A660T	ENST00000361417	NM_015157.3	660	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8401.1	1978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGCCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16	.	.	ENSP00000354498	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000361417	Transcript	.	.	ENSG00000019144	23697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	PHLB1_HUMAN	PHLDB1	HGNC	.	.	UPI0000192101	SNV	PHLDB1,missense_variant,p.Ala660Thr,ENST00000361417,;PHLDB1,missense_variant,p.Ala660Thr,ENST00000356063,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000534672,;PHLDB1,intron_variant,,ENST00000530708,;PHLDB1,downstream_gene_variant,,ENST00000527259,;PHLDB1,upstream_gene_variant,,ENST00000534140,;PHLDB1,upstream_gene_variant,,ENST00000528875,;PHLDB1,downstream_gene_variant,,ENST00000526374,;PHLDB1,downstream_gene_variant,,ENST00000532639,;PHLDB1,upstream_gene_variant,,ENST00000527500,;PHLDB1,missense_variant,p.Ala660Thr,ENST00000528594,;PHLDB1,missense_variant,p.Ala660Thr,ENST00000530994,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,upstream_gene_variant,,ENST00000526699,;PHLDB1,upstream_gene_variant,,ENST00000531862,;PHLDB1,upstream_gene_variant,,ENST00000525698,;	2389	89	83	SUCCESS
MICAL2	9645	.	GRCh37	11	12237867	12237867	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs754758130	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	48	0	ENST00000256194.4:c.948+1G>T		p.X316_splice	ENST00000256194	NM_014632.2	316		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7809.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACGTACGT	NONE	.	.	.	.	.	ENSP00000256194	.	.	.	.	.	.	.	.	.	.	rs754758130,COSM924079,COSM1651228	.	PASS	ENST00000256194	Transcript	.	.	ENSG00000133816	24693	.	.	HIGH	8/27	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	MICA2_HUMAN	MICAL2	HGNC	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN	.	UPI000000DA92	SNV	MICAL2,splice_donor_variant,,ENST00000379612,;MICAL2,splice_donor_variant,,ENST00000256194,;MICAL2,splice_donor_variant,,ENST00000527546,;MICAL2,splice_donor_variant,,ENST00000342902,;MICAL2,splice_donor_variant,,ENST00000537344,;MICAL2,splice_donor_variant,,ENST00000528931,;MICAL2,splice_donor_variant,,ENST00000530691,;MICAL2,non_coding_transcript_exon_variant,,ENST00000524730,;	.	48	70	SUCCESS
TSG101	7251	.	GRCh37	11	18503415	18503415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	69	0	ENST00000251968.3:c.845C>G	p.Ala282Gly	p.A282G	ENST00000251968	NM_006292.3	282	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS7842.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGGCCTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23306:SF17,hmmpanther:PTHR23306	.	.	ENSP00000251968	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000251968	Transcript	.	.	ENSG00000074319	15971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.35)	.	TS101_HUMAN	TSG101	HGNC	L0L6B6_HUMAN,J3QRU6_HUMAN,D3DQY6_HUMAN	.	UPI000004750C	SNV	TSG101,missense_variant,p.Ala282Gly,ENST00000536719,;TSG101,missense_variant,p.Ala282Gly,ENST00000251968,;TSG101,missense_variant,p.Ala177Gly,ENST00000357193,;LDHAL6A,downstream_gene_variant,,ENST00000396213,;LDHAL6A,downstream_gene_variant,,ENST00000280706,;TSG101,splice_region_variant,,ENST00000540555,;TSG101,downstream_gene_variant,,ENST00000543054,;TSG101,upstream_gene_variant,,ENST00000584526,;TSG101,upstream_gene_variant,,ENST00000580814,;TSG101,downstream_gene_variant,,ENST00000545247,;	1261	69	56	SUCCESS
SLC17A6	57084	.	GRCh37	11	22359944	22359944	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	103	0	ENST00000263160.3:c.-136A>T		p.*46*	ENST00000263160	NM_020346.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7856.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGGCGA	NONE	.	.	.	.	.	ENSP00000263160	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,5_prime_UTR_variant,,ENST00000263160,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	302	103	67	SUCCESS
SLC17A6	57084	.	GRCh37	11	22364853	22364853	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	86	0	ENST00000263160.3:c.400G>A	p.Gly134Ser	p.G134S	ENST00000263160	NM_020346.2	134	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7856.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGGCTAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000263160	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.02)	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,missense_variant,p.Gly134Ser,ENST00000263160,;SLC17A6,non_coding_transcript_exon_variant,,ENST00000534115,;	837	86	78	SUCCESS
FOLH1	2346	.	GRCh37	11	49229860	49229860	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	41	265	0	ENST00000256999.2:c.102C>T	p.Leu34=	p.L34=	ENST00000256999	NM_004476.1	34	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7946.1	102	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGGAGAAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10404:SF36,hmmpanther:PTHR10404	.	.	ENSP00000256999	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000256999	Transcript	.	.	ENSG00000086205	3788	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOLH1_HUMAN	FOLH1	HGNC	Q7Z5D2_HUMAN,Q2VPJ0_HUMAN,E9PMK6_HUMAN,E9PKM3_HUMAN	.	UPI0000000A01	SNV	FOLH1,synonymous_variant,p.%3D,ENST00000256999,;FOLH1,synonymous_variant,p.%3D,ENST00000356696,;FOLH1,5_prime_UTR_variant,,ENST00000340334,;FOLH1,5_prime_UTR_variant,,ENST00000533034,;FOLH1,5_prime_UTR_variant,,ENST00000343844,;FOLH1,upstream_gene_variant,,ENST00000529117,;FOLH1,synonymous_variant,p.%3D,ENST00000525826,;FOLH1,synonymous_variant,p.%3D,ENST00000533510,;FOLH1,synonymous_variant,p.%3D,ENST00000529648,;FOLH1,non_coding_transcript_exon_variant,,ENST00000529646,;	363	265	219	SUCCESS
OR5J2	282775	.	GRCh37	11	55944930	55944930	+	synonymous_variant	Silent	SNP	G	G	A	rs764523350	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	53	0	ENST00000312298.1:c.837G>A	p.Thr279=	p.T279=	ENST00000312298	NM_001005492.1	279	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31522.1	837	RADIA|MUTECT|MUSE|VARSCANS	.	TATACGCTAGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF102,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000310788	.	1/1	.	.	.	.	.	.	.	.	rs764523350,COSM363650	1/1	PASS	ENST00000312298	Transcript	.	.	ENSG00000174957	19612	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	OR5J2_HUMAN	OR5J2	HGNC	.	.	UPI000004B232	SNV	OR5J2,synonymous_variant,p.%3D,ENST00000312298,;	837	53	40	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57089442	57089442	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	151	0	ENST00000358252.3:c.-65-18T>A		p.*22*	ENST00000358252	NM_033396.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7951.1	.	MUTECT|MUSE	.	AGAGAAGAGAA	NONE	.	.	.	.	.	ENSP00000437271	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,5_prime_UTR_variant,,ENST00000532437,;TNKS1BP1,intron_variant,,ENST00000358252,;TNKS1BP1,intron_variant,,ENST00000527207,;SSRP1,downstream_gene_variant,,ENST00000278412,;RP11-872D17.4,upstream_gene_variant,,ENST00000534162,;TNKS1BP1,intron_variant,,ENST00000528882,;SSRP1,downstream_gene_variant,,ENST00000293880,;	230	151	146	SUCCESS
SIPA1	6494	.	GRCh37	11	65414112	65414112	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	27	0	ENST00000394224.3:c.1607T>A	p.Leu536Gln	p.L536Q	ENST00000394224	NM_153253.29	536	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8108.1	1607	MUTECT|MUSE	.	GTACCTGCAAG	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF14,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000377771	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000394224	Transcript	.	.	ENSG00000213445	10885	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SIPA1_HUMAN	SIPA1	HGNC	E9PIB3_HUMAN	.	UPI0000135D8A	SNV	SIPA1,missense_variant,p.Leu536Gln,ENST00000394227,;SIPA1,missense_variant,p.Leu536Gln,ENST00000394224,;SIPA1,missense_variant,p.Leu536Gln,ENST00000527525,;SIPA1,missense_variant,p.Leu536Gln,ENST00000534313,;MIR4489,upstream_gene_variant,,ENST00000578869,;SIPA1,non_coding_transcript_exon_variant,,ENST00000530226,;SIPA1,upstream_gene_variant,,ENST00000529725,;SIPA1,upstream_gene_variant,,ENST00000531339,;SIPA1,upstream_gene_variant,,ENST00000528699,;SIPA1,downstream_gene_variant,,ENST00000534406,;	1903	27	30	SUCCESS
DNHD1	144132	.	GRCh37	11	6578767	6578767	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	10	131	0	ENST00000254579.6:c.8242A>G	p.Ser2748Gly	p.S2748G	ENST00000254579	NM_144666.2	2748	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS44532.1	8242	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAGTCTA	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676	.	.	ENSP00000254579	.	25/43	.	.	.	.	.	.	.	.	.	25/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Ser2748Gly,ENST00000527990,;DNHD1,missense_variant,p.Ser2748Gly,ENST00000254579,;DNHD1,non_coding_transcript_exon_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000526027,;DNHD1,upstream_gene_variant,,ENST00000524401,;DNHD1,upstream_gene_variant,,ENST00000531903,;	8806	131	100	SUCCESS
MRPL48	51642	.	GRCh37	11	73555916	73555916	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	102	0	ENST00000310614.7:c.266G>A	p.Gly89Glu	p.G89E	ENST00000310614	NM_016055.5	89	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS44676.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGGGGTTT	NONE	.	.	hmmpanther:PTHR13473	.	.	ENSP00000308717	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000310614	Transcript	.	.	ENSG00000175581	16653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.78)	.	deleterious(0.04)	.	RM48_HUMAN	MRPL48	HGNC	F5H702_HUMAN	.	UPI0000073BDE	SNV	MRPL48,missense_variant,p.Gly71Glu,ENST00000535529,;MRPL48,missense_variant,p.Gly89Glu,ENST00000310614,;MRPL48,5_prime_UTR_variant,,ENST00000411840,;MRPL48,5_prime_UTR_variant,,ENST00000497094,;MRPL48,5_prime_UTR_variant,,ENST00000398483,;MRPL48,5_prime_UTR_variant,,ENST00000314282,;MRPL48,5_prime_UTR_variant,,ENST00000537007,;MRPL48,5_prime_UTR_variant,,ENST00000535277,;MRPL48,intron_variant,,ENST00000542303,;MRPL48,3_prime_UTR_variant,,ENST00000544819,;MRPL48,3_prime_UTR_variant,,ENST00000540162,;MRPL48,3_prime_UTR_variant,,ENST00000544140,;MRPL48,3_prime_UTR_variant,,ENST00000543058,;MRPL48,3_prime_UTR_variant,,ENST00000508278,;MRPL48,non_coding_transcript_exon_variant,,ENST00000543374,;	922	102	102	SUCCESS
ANO4	121601	.	GRCh37	12	101381411	101381411	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	67	0	ENST00000392977.3:c.697T>A	p.Cys233Ser	p.C233S	ENST00000392977	NM_001286615.1	233	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS31884.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTGCTAC	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.24)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Cys233Ser,ENST00000392977,;ANO4,missense_variant,p.Cys198Ser,ENST00000392979,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,3_prime_UTR_variant,,ENST00000538618,;ANO4,non_coding_transcript_exon_variant,,ENST00000549234,;ANO4,3_prime_UTR_variant,,ENST00000549155,;	953	67	63	SUCCESS
NOS1	4842	.	GRCh37	12	117681160	117681160	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	106	0	ENST00000317775.6:c.2904C>A	p.Ser968Arg	p.S968R	ENST00000317775	NM_000620.4	968	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS55890.1	3006	MUTECT|MUSE	.	TTCCAGCTGCG	NONE	.	.	PIRSF_domain:PIRSF000333,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Ser968Arg,ENST00000317775,;NOS1,missense_variant,p.Ser1002Arg,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;TCEB1P32,downstream_gene_variant,,ENST00000548625,;	3011	106	107	SUCCESS
WSB2	55884	.	GRCh37	12	118474281	118474281	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	111	0	ENST00000315436.3:c.695T>G	p.Ile232Ser	p.I232S	ENST00000315436	NM_018639.4	232	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS9186.1	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAATTAAC	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000319474	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000315436	Transcript	.	.	ENSG00000176871	19222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	tolerated(0.06)	.	WSB2_HUMAN	WSB2	HGNC	B4DPV6_HUMAN,B4DFS1_HUMAN	.	UPI0000031565	SNV	WSB2,missense_variant,p.Ile234Ser,ENST00000535496,;WSB2,missense_variant,p.Ile22Ser,ENST00000544233,;WSB2,missense_variant,p.Ile234Ser,ENST00000537945,;WSB2,missense_variant,p.Ile7Ser,ENST00000542304,;WSB2,missense_variant,p.Ile249Ser,ENST00000441406,;WSB2,missense_variant,p.Ile232Ser,ENST00000315436,;RFC5,downstream_gene_variant,,ENST00000229043,;RFC5,downstream_gene_variant,,ENST00000392542,;RFC5,downstream_gene_variant,,ENST00000454402,;WSB2,non_coding_transcript_exon_variant,,ENST00000536738,;RFC5,downstream_gene_variant,,ENST00000543153,;WSB2,missense_variant,p.Ile22Ser,ENST00000543186,;WSB2,3_prime_UTR_variant,,ENST00000543218,;WSB2,non_coding_transcript_exon_variant,,ENST00000540129,;	837	111	99	SUCCESS
ITPR2	3709	.	GRCh37	12	26709308	26709308	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	78	0	ENST00000381340.3:c.4822G>C	p.Asp1608His	p.D1608H	ENST00000381340	NM_002223.2	1608	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS41764.1	4822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCCTAGG	NONE	.	.	hmmpanther:PTHR13715,Superfamily_domains:SSF48371	.	.	ENSP00000370744	.	36/57	.	.	.	.	.	.	.	.	.	36/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Asp1608His,ENST00000381340,;	5239	78	52	SUCCESS
SLC38A2	54407	.	GRCh37	12	46764378	46764378	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	39	191	0	ENST00000256689.5:c.231A>G	p.Val77=	p.V77=	ENST00000256689	NM_018976.4	77	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS8749.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATACTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Pfam_domain:PF01490	.	.	ENSP00000256689	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000256689	Transcript	.	.	ENSG00000134294	13448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S38A2_HUMAN	SLC38A2	HGNC	.	.	UPI000000121A	SNV	SLC38A2,synonymous_variant,p.%3D,ENST00000256689,;RP11-474P2.2,upstream_gene_variant,,ENST00000550319,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000551405,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000547252,;SLC38A2,upstream_gene_variant,,ENST00000548870,;SLC38A2,intron_variant,,ENST00000549258,;SLC38A2,downstream_gene_variant,,ENST00000553252,;	676	191	171	SUCCESS
CERS5	91012	.	GRCh37	12	50524462	50524462	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373121500	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	49	0	ENST00000317551.6:c.1045C>T	p.Arg349Cys	p.R349C	ENST00000317551	NM_147190.2	349	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS8801.1	1045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGATCAT	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF005225,hmmpanther:PTHR12560:SF8,hmmpanther:PTHR12560,Low_complexity_(Seg):seg	.	A:0.0001	ENSP00000325485	.	10/10	.	.	.	.	.	.	.	.	rs373121500,COSM1362217	10/10	PASS	ENST00000317551	Transcript	.	.	ENSG00000139624	23749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	CERS5_HUMAN	CERS5	HGNC	F8W1K4_HUMAN	.	UPI000007101F	SNV	CERS5,missense_variant,p.Arg291Cys,ENST00000422340,;CERS5,missense_variant,p.Arg349Cys,ENST00000317551,;CERS5,synonymous_variant,p.%3D,ENST00000550919,;CERS5,3_prime_UTR_variant,,ENST00000553122,;CERS5,downstream_gene_variant,,ENST00000550547,;RP4-605O3.4,intron_variant,,ENST00000548468,;CERS5,downstream_gene_variant,,ENST00000548942,;CERS5,downstream_gene_variant,,ENST00000547138,;CERS5,3_prime_UTR_variant,,ENST00000551697,;CERS5,3_prime_UTR_variant,,ENST00000547787,;CERS5,3_prime_UTR_variant,,ENST00000380189,;CERS5,non_coding_transcript_exon_variant,,ENST00000550079,;CERS5,non_coding_transcript_exon_variant,,ENST00000546406,;CERS5,non_coding_transcript_exon_variant,,ENST00000551005,;CERS5,downstream_gene_variant,,ENST00000546676,;CERS5,downstream_gene_variant,,ENST00000542320,;CERS5,downstream_gene_variant,,ENST00000551757,;CERS5,downstream_gene_variant,,ENST00000438450,;	1170	49	54	SUCCESS
LAG3	3902	.	GRCh37	12	6887023	6887023	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	39	0	ENST00000203629.2:c.1367T>G	p.Leu456Arg	p.L456R	ENST00000203629	NM_002286.5	456	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8561.1	1367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000203629	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000203629	Transcript	.	.	ENSG00000089692	6476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0.01)	.	LAG3_HUMAN	LAG3	HGNC	.	.	UPI000013C645	SNV	LAG3,missense_variant,p.Leu456Arg,ENST00000203629,;LAG3,downstream_gene_variant,,ENST00000441671,;LAG3,non_coding_transcript_exon_variant,,ENST00000538079,;LAG3,non_coding_transcript_exon_variant,,ENST00000541049,;	1700	39	24	SUCCESS
ZDHHC17	23390	.	GRCh37	12	77208983	77208983	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	18	88	0	ENST00000426126.2:c.601A>G	p.Thr201Ala	p.T201A	ENST00000426126	NM_015336.2	201	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS44946.1	601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGAACACAT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000403397	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000426126	Transcript	.	.	ENSG00000186908	18412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.14)	.	ZDH17_HUMAN	ZDHHC17	HGNC	A8KA01_HUMAN	.	UPI0000051F55	SNV	ZDHHC17,missense_variant,p.Thr201Ala,ENST00000426126,;ZDHHC17,missense_variant,p.Thr38Ala,ENST00000550876,;ZDHHC17,missense_variant,p.Thr201Ala,ENST00000334822,;ZDHHC17,missense_variant,p.Thr151Ala,ENST00000359019,;ZDHHC17,missense_variant,p.Thr199Ala,ENST00000552453,;ZDHHC17,3_prime_UTR_variant,,ENST00000549944,;ZDHHC17,3_prime_UTR_variant,,ENST00000550163,;ZDHHC17,3_prime_UTR_variant,,ENST00000546778,;	1250	88	84	SUCCESS
SLC9A7P1	121456	.	GRCh37	12	98849294	98849294	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	103	0	ENST00000554295.1:n.1630A>G		p.*544*	ENST00000554295				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGATGC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000554295	Transcript	.	.	ENSG00000227825	32679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC9A7P1	HGNC	.	.	.	SNV	SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000554295,;SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000556476,;SLC9A7P1,non_coding_transcript_exon_variant,,ENST00000370696,;	1630	103	84	SUCCESS
LIG4	3981	.	GRCh37	13	108863622	108863622	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs576972519	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	79	0	ENST00000356922.4:c.-6G>A		p.*2*	ENST00000356922	NM_002312.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS9508.1	.	MUTECT|MUSE	.	CAAAGCGGTGA	NONE	by1000G	.	.	T:0.001	.	ENSP00000349393	T:0	2/2	.	.	.	.	.	.	.	.	rs576972519	2/2	PASS	ENST00000356922	Transcript	.	T:0.0002	ENSG00000174405	6601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	DNLI4_HUMAN	LIG4	HGNC	.	.	UPI00000742BF	SNV	LIG4,5_prime_UTR_variant,,ENST00000405925,;LIG4,5_prime_UTR_variant,,ENST00000356922,;LIG4,5_prime_UTR_variant,,ENST00000442234,;	268	79	32	SUCCESS
ATP5EP2	0	.	GRCh37	13	28519539	28519539	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	38	243	0	ENST00000381026.3:c.143T>G	p.Val48Gly	p.V48G	ENST00000381026		48	gTa/gGa	0	.	.	.	.	.	G	V/G	protein_coding	YES	.	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTAAAGA	NONE	.	.	hmmpanther:PTHR12448:SF2,hmmpanther:PTHR12448,Gene3D:2v7qI00,Pfam_domain:PF04627	.	.	ENSP00000370414	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381026	Transcript	.	.	ENSG00000180389	34026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.05)	.	AT5EL_HUMAN	ATP5EP2	HGNC	.	.	UPI00001616B3	SNV	ATP5EP2,missense_variant,p.Val48Gly,ENST00000381026,;	197	243	192	SUCCESS
NBEA	26960	.	GRCh37	13	36220029	36220029	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	37	303	0	ENST00000400445.3:c.7618-367A>G		p.*2540*	ENST00000400445	NM_015678.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45026.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGAGACCC	NONE	.	.	.	.	.	ENSP00000383295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODIFIER	49/57	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,synonymous_variant,p.%3D,ENST00000379922,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000537702,;NBEA,intron_variant,,ENST00000379939,;	.	303	216	SUCCESS
CDH24	64403	.	GRCh37	14	23524786	23524786	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	9	188	0	ENST00000267383.5:c.157G>A	p.Val53Ile	p.V53I	ENST00000267383		53	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS9585.1	157	MUTECT|MUSE	.	AATGACAAAGA	NONE	.	.	hmmpanther:PTHR24027:SF272,hmmpanther:PTHR24027	.	.	ENSP00000380517	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000397359	Transcript	.	.	ENSG00000139880	14265	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CAD24_HUMAN	CDH24	HGNC	Q86TS8_HUMAN,Q4VBZ5_HUMAN	.	UPI0000190F86	SNV	CDH24,missense_variant,p.Val53Ile,ENST00000554034,;CDH24,missense_variant,p.Val53Ile,ENST00000487137,;CDH24,missense_variant,p.Val53Ile,ENST00000397359,;CDH24,missense_variant,p.Val53Ile,ENST00000267383,;ACIN1,downstream_gene_variant,,ENST00000338631,;ACIN1,downstream_gene_variant,,ENST00000262710,;ACIN1,downstream_gene_variant,,ENST00000557515,;ACIN1,downstream_gene_variant,,ENST00000397341,;ACIN1,downstream_gene_variant,,ENST00000357481,;ACIN1,downstream_gene_variant,,ENST00000605057,;ACIN1,downstream_gene_variant,,ENST00000555053,;ACIN1,downstream_gene_variant,,ENST00000457657,;ACIN1,downstream_gene_variant,,ENST00000473758,;	417	188	171	SUCCESS
DCAF5	8816	.	GRCh37	14	69520912	69520912	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	64	0	ENST00000341516.5:c.2491A>C	p.Asn831His	p.N831H	ENST00000341516	NM_003861.2	831	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS32106.1	2491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTTGGCAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000341351	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341516	Transcript	.	.	ENSG00000139990	20224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated_low_confidence(0.13)	.	DCAF5_HUMAN	DCAF5	HGNC	Q8NCX5_HUMAN	.	UPI00001C1F66	SNV	DCAF5,missense_variant,p.Asn749His,ENST00000554215,;DCAF5,missense_variant,p.Asn830His,ENST00000557386,;DCAF5,missense_variant,p.Asn831His,ENST00000341516,;DCAF5,missense_variant,p.Asn749His,ENST00000556847,;DCAF5,downstream_gene_variant,,ENST00000553293,;	2639	64	58	SUCCESS
DCAF5	8816	.	GRCh37	14	69522113	69522113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	93	0	ENST00000341516.5:c.1290G>T	p.Trp430Cys	p.W430C	ENST00000341516	NM_003861.2	430	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS32106.1	1290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCCAGCC	NONE	.	.	hmmpanther:PTHR15574	.	.	ENSP00000341351	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341516	Transcript	.	.	ENSG00000139990	20224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DCAF5_HUMAN	DCAF5	HGNC	Q8NCX5_HUMAN	.	UPI00001C1F66	SNV	DCAF5,missense_variant,p.Trp348Cys,ENST00000554215,;DCAF5,missense_variant,p.Trp429Cys,ENST00000557386,;DCAF5,missense_variant,p.Trp430Cys,ENST00000341516,;DCAF5,missense_variant,p.Trp348Cys,ENST00000556847,;DCAF5,non_coding_transcript_exon_variant,,ENST00000553293,;	1438	94	69	SUCCESS
HERC2	8924	.	GRCh37	15	28443868	28443868	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	28	163	0	ENST00000261609.7:c.7764A>C	p.Glu2588Asp	p.E2588D	ENST00000261609	NM_004667.5	2588	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS10021.1	7764	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTTCGCA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Pfam_domain:PF11515,Gene3D:2.30.30.30,Superfamily_domains:SSF63748	.	.	ENSP00000261609	.	49/93	.	.	.	.	.	.	.	.	.	49/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Glu2588Asp,ENST00000261609,;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	7873	163	168	SUCCESS
LTK	4058	.	GRCh37	15	41804103	41804103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	80	0	ENST00000263800.6:c.569C>T	p.Ala190Val	p.A190V	ENST00000263800	NM_002344.5	190	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10077.1	569	MUTECT|MUSE	.	TCGCCGCGTGC	NONE	.	.	hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416,Pfam_domain:PF12810	.	.	ENSP00000263800	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000263800	Transcript	.	.	ENSG00000062524	6721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.451)	.	tolerated_low_confidence(0.07)	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,missense_variant,p.Ala190Val,ENST00000263800,;LTK,missense_variant,p.Ala190Val,ENST00000453182,;LTK,missense_variant,p.Ala190Val,ENST00000355166,;LTK,intron_variant,,ENST00000561619,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,upstream_gene_variant,,ENST00000569283,;	666	80	77	SUCCESS
KIAA1199	0	.	GRCh37	15	81221411	81221411	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs956497500	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	34	299	0	ENST00000220244.3:c.2508C>A	p.Ser836Arg	p.S836R	ENST00000220244	NM_018689.1	836	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS10315.1	2508	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCTTGTT	NONE	.	.	Superfamily_domains:SSF51126,Gene3D:2.160.20.10,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	SNV	KIAA1199,missense_variant,p.Ser836Arg,ENST00000356249,;KIAA1199,missense_variant,p.Ser836Arg,ENST00000220244,;KIAA1199,missense_variant,p.Ser836Arg,ENST00000394685,;KIAA1199,upstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;	2927	299	291	SUCCESS
AGBL1	123624	.	GRCh37	15	87531237	87531237	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	68	0	ENST00000441037.2:c.3103C>T	p.Leu1035=	p.L1035=	ENST00000441037	NM_152336.2	1035	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58398.1	3103	MUTECT|MUSE	.	ATTTCCTGCCA	NONE	.	.	.	.	.	ENSP00000413001	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;RP11-133L19.1,intron_variant,,ENST00000558587,;	3198	68	54	SUCCESS
HIRIP3	8479	.	GRCh37	16	30005783	30005783	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs747070567	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	66	0	ENST00000279392.3:c.683A>C	p.Glu228Ala	p.E228A	ENST00000279392	NM_003609.4	228	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS10664.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTCACTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15410,hmmpanther:PTHR15410:SF2	.	.	ENSP00000279392	.	4/7	.	.	.	.	.	.	.	.	rs747070567	4/7	PASS	ENST00000279392	Transcript	.	.	ENSG00000149929	4917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.368)	.	deleterious(0.02)	.	HIRP3_HUMAN	HIRIP3	HGNC	B3KQL0_HUMAN	.	UPI000013DBC9	SNV	HIRIP3,missense_variant,p.Glu228Ala,ENST00000279392,;HIRIP3,intron_variant,,ENST00000564026,;INO80E,upstream_gene_variant,,ENST00000563197,;TAOK2,downstream_gene_variant,,ENST00000279394,;INO80E,upstream_gene_variant,,ENST00000567254,;INO80E,upstream_gene_variant,,ENST00000304516,;INO80E,upstream_gene_variant,,ENST00000567705,;HIRIP3,downstream_gene_variant,,ENST00000566471,;INO80E,upstream_gene_variant,,ENST00000563040,;HIRIP3,intron_variant,,ENST00000563680,;HIRIP3,intron_variant,,ENST00000563053,;INO80E,upstream_gene_variant,,ENST00000567987,;INO80E,upstream_gene_variant,,ENST00000568043,;HIRIP3,downstream_gene_variant,,ENST00000568880,;INO80E,upstream_gene_variant,,ENST00000540562,;TAOK2,downstream_gene_variant,,ENST00000570844,;INO80E,upstream_gene_variant,,ENST00000569957,;INO80E,upstream_gene_variant,,ENST00000567065,;INO80E,upstream_gene_variant,,ENST00000380503,;HIRIP3,downstream_gene_variant,,ENST00000565996,;INO80E,upstream_gene_variant,,ENST00000562441,;	1514	66	76	SUCCESS
BRD7	29117	.	GRCh37	16	50357551	50357552	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	83	0	ENST00000394688.3:c.1389_1390del	p.Leu463PhefsTer22	p.L463Ffs*22	ENST00000394688		463	ttACtg/tttg	0	.	.	.	.	.	-	LL/FX	protein_coding	YES	CCDS54007.1	1389-1390	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCCAGTAAACT	NONE	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	deletion	BRD7,frameshift_variant,p.Leu463PhefsTer22,ENST00000394688,;BRD7,frameshift_variant,p.Leu463PhefsTer22,ENST00000394689,;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;	1394-1395	83	83	SUCCESS
WDR24	84219	.	GRCh37	16	735410	735410	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	8	131	0	ENST00000248142.6:c.2256G>A	p.Ala752=	p.A752=	ENST00000248142		752	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10420.1	1866	MUTECT|MUSE	.	TAGAGCGCGTG	NONE	.	.	hmmpanther:PTHR22850:SF65,hmmpanther:PTHR22850	.	.	ENSP00000293883	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000293883	Transcript	.	.	ENSG00000127580	20852	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR24_HUMAN	WDR24	HGNC	.	.	UPI0000037D32	SNV	WDR24,synonymous_variant,p.%3D,ENST00000293883,;WDR24,synonymous_variant,p.%3D,ENST00000248142,;JMJD8,upstream_gene_variant,,ENST00000562111,;JMJD8,upstream_gene_variant,,ENST00000562824,;STUB1,downstream_gene_variant,,ENST00000565677,;JMJD8,upstream_gene_variant,,ENST00000609261,;STUB1,downstream_gene_variant,,ENST00000567173,;JMJD8,upstream_gene_variant,,ENST00000454700,;STUB1,downstream_gene_variant,,ENST00000219548,;JMJD8,upstream_gene_variant,,ENST00000293882,;STUB1,downstream_gene_variant,,ENST00000564316,;STUB1,downstream_gene_variant,,ENST00000564370,;STUB1,downstream_gene_variant,,ENST00000566408,;JMJD8,upstream_gene_variant,,ENST00000412368,;LA16c-313D11.12,upstream_gene_variant,,ENST00000566927,;STUB1,downstream_gene_variant,,ENST00000566181,;JMJD8,upstream_gene_variant,,ENST00000565302,;STUB1,downstream_gene_variant,,ENST00000569248,;STUB1,downstream_gene_variant,,ENST00000565813,;JMJD8,upstream_gene_variant,,ENST00000565258,;JMJD8,upstream_gene_variant,,ENST00000568689,;JMJD8,upstream_gene_variant,,ENST00000569396,;JMJD8,upstream_gene_variant,,ENST00000563088,;JMJD8,upstream_gene_variant,,ENST00000566199,;LA16c-313D11.12,upstream_gene_variant,,ENST00000575305,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,upstream_gene_variant,,ENST00000567120,;JMJD8,upstream_gene_variant,,ENST00000568313,;JMJD8,upstream_gene_variant,,ENST00000570037,;WDR24,downstream_gene_variant,,ENST00000567014,;STUB1,downstream_gene_variant,,ENST00000567790,;JMJD8,upstream_gene_variant,,ENST00000569441,;JMJD8,upstream_gene_variant,,ENST00000564436,;JMJD8,upstream_gene_variant,,ENST00000567901,;	2626	131	118	SUCCESS
HAGHL	84264	.	GRCh37	16	777498	777498	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	45	272	0	ENST00000341413.4:c.-12A>G		p.*4*	ENST00000341413				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32354.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGAGCTCC	NONE	.	.	.	.	.	ENSP00000374353	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000389703	Transcript	.	.	ENSG00000103253	14177	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAGHL_HUMAN	HAGHL	HGNC	H3BT20_HUMAN,B4DED4_HUMAN	.	UPI00000498AB	SNV	HAGHL,5_prime_UTR_variant,,ENST00000564537,;HAGHL,5_prime_UTR_variant,,ENST00000389703,;HAGHL,5_prime_UTR_variant,,ENST00000561546,;HAGHL,5_prime_UTR_variant,,ENST00000562141,;HAGHL,5_prime_UTR_variant,,ENST00000564545,;HAGHL,5_prime_UTR_variant,,ENST00000568141,;HAGHL,5_prime_UTR_variant,,ENST00000562187,;HAGHL,5_prime_UTR_variant,,ENST00000567414,;HAGHL,5_prime_UTR_variant,,ENST00000341413,;HAGHL,5_prime_UTR_variant,,ENST00000549114,;FAM173A,downstream_gene_variant,,ENST00000568916,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,;FAM173A,downstream_gene_variant,,ENST00000569529,;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000301694,;CCDC78,upstream_gene_variant,,ENST00000293889,;FAM173A,downstream_gene_variant,,ENST00000564000,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,upstream_gene_variant,,ENST00000563792,;FAM173A,downstream_gene_variant,,ENST00000219535,;CCDC78,upstream_gene_variant,,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,non_coding_transcript_exon_variant,,ENST00000569143,;HAGHL,non_coding_transcript_exon_variant,,ENST00000561750,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;CCDC78,upstream_gene_variant,,ENST00000471861,;FAM173A,downstream_gene_variant,,ENST00000566525,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000478979,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000561561,;NARFL,downstream_gene_variant,,ENST00000566650,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;CCDC78,upstream_gene_variant,,ENST00000481804,;FAM173A,downstream_gene_variant,,ENST00000570237,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000538176,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000485091,;FAM173A,downstream_gene_variant,,ENST00000566437,;	228	272	227	SUCCESS
GSE1	23199	.	GRCh37	16	85699912	85699912	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	183	0	ENST00000253458.7:c.3089C>G	p.Ser1030Ter	p.S1030*	ENST00000253458	NM_014615.3	1030	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS10952.1	3089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTCAGTGC	NONE	.	.	hmmpanther:PTHR17608:SF3,hmmpanther:PTHR17608	.	.	ENSP00000253458	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000253458	Transcript	.	.	ENSG00000131149	28979	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSE1_HUMAN	GSE1	HGNC	C9JLW9_HUMAN	.	UPI0000185F04	SNV	GSE1,stop_gained,p.Ser1030Ter,ENST00000253458,;GSE1,stop_gained,p.Ser926Ter,ENST00000405402,;GSE1,stop_gained,p.Ser232Ter,ENST00000438180,;GSE1,stop_gained,p.Ser799Ter,ENST00000412692,;GSE1,stop_gained,p.Ser957Ter,ENST00000393243,;GSE1,non_coding_transcript_exon_variant,,ENST00000562659,;GSE1,non_coding_transcript_exon_variant,,ENST00000469381,;GSE1,downstream_gene_variant,,ENST00000495192,;GSE1,upstream_gene_variant,,ENST00000496345,;GSE1,downstream_gene_variant,,ENST00000479488,;	3265	183	127	SUCCESS
MYH8	4626	.	GRCh37	17	10298727	10298727	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	119	0	ENST00000403437.2:c.4685T>A	p.Leu1562Gln	p.L1562Q	ENST00000403437	NM_002472.2	1562	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11153.1	4685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGCAGAATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000384330	.	34/40	.	.	.	.	.	.	.	.	.	34/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Leu1562Gln,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4780	119	75	SUCCESS
MYH4	4622	.	GRCh37	17	10351286	10351286	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1349105101	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	129	0	ENST00000255381.2:c.4814T>A	p.Leu1605Gln	p.L1605Q	ENST00000255381	NM_017533.2	1605	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11154.1	4814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGTGTA	NONE	.	.	hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000255381	.	34/40	.	.	.	.	.	.	.	.	.	34/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Leu1605Gln,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4925	129	80	SUCCESS
PRPSAP2	5636	.	GRCh37	17	18827289	18827289	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	130	0	ENST00000268835.2:c.796A>G	p.Ile266Val	p.I266V	ENST00000268835	NM_002767.3	266	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11200.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF29,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01251,Pfam_domain:PF14572,Superfamily_domains:SSF53271	.	.	ENSP00000268835	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000268835	Transcript	.	.	ENSG00000141127	9467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.09)	.	KPRB_HUMAN	PRPSAP2	HGNC	I3L331_HUMAN,I3L275_HUMAN,I3L164_HUMAN,E7EPA1_HUMAN,C9K0K7_HUMAN,C9JJS3_HUMAN,C9JDU5_HUMAN,C9JDH0_HUMAN,B4E329_HUMAN	.	UPI000012DFA1	SNV	PRPSAP2,missense_variant,p.Ile266Val,ENST00000268835,;PRPSAP2,missense_variant,p.Ile55Val,ENST00000460724,;PRPSAP2,missense_variant,p.Ile266Val,ENST00000412418,;PRPSAP2,missense_variant,p.Ile266Val,ENST00000542013,;PRPSAP2,missense_variant,p.Ile157Val,ENST00000574451,;PRPSAP2,missense_variant,p.Ile180Val,ENST00000536323,;PRPSAP2,missense_variant,p.Ile226Val,ENST00000419071,;PRPSAP2,missense_variant,p.Ile266Val,ENST00000432893,;PRPSAP2,3_prime_UTR_variant,,ENST00000455992,;PRPSAP2,3_prime_UTR_variant,,ENST00000492129,;PRPSAP2,3_prime_UTR_variant,,ENST00000395656,;PRPSAP2,upstream_gene_variant,,ENST00000466106,;	1079	130	94	SUCCESS
USP22	23326	.	GRCh37	17	20924519	20924519	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1208646048	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	99	0	ENST00000261497.4:c.325G>A	p.Gly109Ser	p.G109S	ENST00000261497	NM_015276.1	109	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS42285.1	325	MUTECT|MUSE	.	GATGCCTCCGT	NONE	.	.	PROSITE_profiles:PS50271,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF02148,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000261497	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.145)	.	tolerated(0.4)	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,missense_variant,p.Gly4Ser,ENST00000476111,;USP22,missense_variant,p.Gly4Ser,ENST00000584538,;USP22,missense_variant,p.Gly109Ser,ENST00000261497,;USP22,missense_variant,p.Gly97Ser,ENST00000537526,;USP22,upstream_gene_variant,,ENST00000582335,;USP22,splice_region_variant,,ENST00000455117,;USP22,upstream_gene_variant,,ENST00000577610,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,upstream_gene_variant,,ENST00000578446,;	529	99	60	SUCCESS
PPY2	0	.	GRCh37	17	26574591	26574591	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	20	0	ENST00000582808.1:n.122C>G		p.*41*	ENST00000582808				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|MUSE	.	CAATACCACAC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000579045	Transcript	.	.	ENSG00000266830	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CTD-2008P7.8	Clone_based_vega_gene	.	.	.	SNV	CTD-2008P7.8,non_coding_transcript_exon_variant,,ENST00000579045,;PPY2,non_coding_transcript_exon_variant,,ENST00000583761,;PPY2,non_coding_transcript_exon_variant,,ENST00000582808,;	442	20	12	SUCCESS
TMIGD1	388364	.	GRCh37	17	28656398	28656398	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	23	129	0	ENST00000328886.4:c.232T>A	p.Ser78Thr	p.S78T	ENST00000328886	NM_206832.1	78	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS32605.1	232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATTTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332404	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000328886	Transcript	.	.	ENSG00000182271	32431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.14)	.	TMIG1_HUMAN	TMIGD1	HGNC	.	.	UPI00001D6918	SNV	TMIGD1,missense_variant,p.Ser78Thr,ENST00000328886,;TMIGD1,missense_variant,p.Ser78Thr,ENST00000538566,;	305	129	108	SUCCESS
RHOT1	55288	.	GRCh37	17	30528018	30528018	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755028129	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	66	0	ENST00000333942.6:c.1144G>A	p.Gly382Ser	p.G382S	ENST00000333942	NM_018307.3	382	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32610.1	1144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGGCTAT	NONE	.	.	PIRSF_domain:PIRSF037488,Pfam_domain:PF08355	.	.	ENSP00000351132	.	14/21	.	.	.	.	.	.	.	.	rs755028129	14/21	PASS	ENST00000358365	Transcript	.	.	ENSG00000126858	21168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	MIRO1_HUMAN	RHOT1	HGNC	.	.	UPI0000074394	SNV	RHOT1,missense_variant,p.Gly361Ser,ENST00000354266,;RHOT1,missense_variant,p.Gly255Ser,ENST00000583994,;RHOT1,missense_variant,p.Gly382Ser,ENST00000581094,;RHOT1,missense_variant,p.Gly382Ser,ENST00000394692,;RHOT1,missense_variant,p.Gly382Ser,ENST00000358365,;RHOT1,missense_variant,p.Gly382Ser,ENST00000545287,;RHOT1,missense_variant,p.Gly382Ser,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000580392,;RHOT1,upstream_gene_variant,,ENST00000582602,;RHOT1,downstream_gene_variant,,ENST00000580976,;RHOT1,missense_variant,p.Gly382Ser,ENST00000581031,;RHOT1,3_prime_UTR_variant,,ENST00000578205,;RHOT1,upstream_gene_variant,,ENST00000581567,;	1371	66	81	SUCCESS
KRTAP9-3	83900	.	GRCh37	17	39388885	39388885	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	114	0	ENST00000411528.2:c.132G>A	p.Gln44=	p.Q44=	ENST00000411528	NM_031962.2	44	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS11385.1	132	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGCCTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF46,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000392189	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000411528	Transcript	.	.	ENSG00000204873	16927	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA93_HUMAN	KRTAP9-3	HGNC	.	.	UPI0000071C07	SNV	KRTAP9-3,synonymous_variant,p.%3D,ENST00000411528,;KRTAP9-2,downstream_gene_variant,,ENST00000377721,;	171	114	79	SUCCESS
BRCA1	672	.	GRCh37	17	41245524	41245524	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	119	0	ENST00000357654.3:c.2024C>G	p.Ala675Gly	p.A675G	ENST00000357654	NM_007294.3	675	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS11456.2	2024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTGCAGGT	NONE	.	.	hmmpanther:PTHR13763:SF0,hmmpanther:PTHR13763,Pfam_domain:PF04873,PIRSF_domain:PIRSF001734	.	.	ENSP00000418960	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000471181	Transcript	.	.	ENSG00000012048	1100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	deleterious(0.02)	.	.	BRCA1	HGNC	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFC7_HUMAN,E7EWN5_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN	.	UPI0000E0360B	SNV	BRCA1,missense_variant,p.Ala675Gly,ENST00000346315,;BRCA1,missense_variant,p.Ala675Gly,ENST00000357654,;BRCA1,missense_variant,p.Ala379Gly,ENST00000309486,;BRCA1,missense_variant,p.Ala675Gly,ENST00000354071,;BRCA1,missense_variant,p.Ala628Gly,ENST00000493795,;BRCA1,missense_variant,p.Ala675Gly,ENST00000471181,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,intron_variant,,ENST00000468300,;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000491747,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,upstream_gene_variant,,ENST00000461574,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,;	2256	119	92	SUCCESS
ACAP1	9744	.	GRCh37	17	7247924	7247924	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	66	0	ENST00000158762.3:c.811C>T	p.His271Tyr	p.H271Y	ENST00000158762	NM_014716.3	271	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS11101.1	811	MUTECT|MUSE	.	AAGGACATCTC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF197,hmmpanther:PTHR23180,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF103657,Superfamily_domains:SSF50729	.	.	ENSP00000158762	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000158762	Transcript	.	.	ENSG00000072818	16467	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(1)	.	ACAP1_HUMAN	ACAP1	HGNC	I3L2Z4_HUMAN,I3L268_HUMAN,I3L0K9_HUMAN	.	UPI000012749A	SNV	ACAP1,missense_variant,p.His271Tyr,ENST00000158762,;ACAP1,downstream_gene_variant,,ENST00000575425,;ACAP1,downstream_gene_variant,,ENST00000570457,;ACAP1,downstream_gene_variant,,ENST00000573893,;ACAP1,non_coding_transcript_exon_variant,,ENST00000571220,;ACAP1,upstream_gene_variant,,ENST00000576594,;ACAP1,upstream_gene_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000576628,;	1017	66	56	SUCCESS
UNC13D	201294	.	GRCh37	17	73830716	73830716	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	323	104	610	0	ENST00000207549.4:c.2074G>T	p.Gly692Cys	p.G692C	ENST00000207549	NM_199242.2	692	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS11730.1	2074	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCTTGGT	NONE	.	.	hmmpanther:PTHR15015:SF20,hmmpanther:PTHR15015	.	.	ENSP00000207549	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000207549	Transcript	.	.	ENSG00000092929	23147	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.841)	.	deleterious(0.01)	.	UN13D_HUMAN	UNC13D	HGNC	K7EIH3_HUMAN	.	UPI000015FC91	SNV	UNC13D,missense_variant,p.Gly692Cys,ENST00000207549,;UNC13D,missense_variant,p.Gly692Cys,ENST00000412096,;UNC13D,downstream_gene_variant,,ENST00000586147,;UNC13D,upstream_gene_variant,,ENST00000589670,;UNC13D,upstream_gene_variant,,ENST00000586930,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591616,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,upstream_gene_variant,,ENST00000590856,;UNC13D,upstream_gene_variant,,ENST00000586519,;UNC13D,downstream_gene_variant,,ENST00000587105,;	2454	610	427	SUCCESS
EXOC7	23265	.	GRCh37	17	74085364	74085364	+	synonymous_variant	Silent	SNP	G	G	A	rs1316059998	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	62	0	ENST00000335146.7:c.1092C>T	p.Tyr364=	p.Y364=	ENST00000335146		364	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS45782.1	1092	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGTAGGC	NONE	.	.	Superfamily_domains:SSF74788,Pfam_domain:PF03081,hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	.	.	ENSP00000334100	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,synonymous_variant,p.%3D,ENST00000332065,;EXOC7,synonymous_variant,p.%3D,ENST00000335146,;EXOC7,synonymous_variant,p.%3D,ENST00000467929,;EXOC7,synonymous_variant,p.%3D,ENST00000411744,;EXOC7,synonymous_variant,p.%3D,ENST00000589210,;EXOC7,synonymous_variant,p.%3D,ENST00000405575,;EXOC7,synonymous_variant,p.%3D,ENST00000607838,;EXOC7,synonymous_variant,p.%3D,ENST00000357231,;EXOC7,non_coding_transcript_exon_variant,,ENST00000467586,;EXOC7,intron_variant,,ENST00000592559,;EXOC7,upstream_gene_variant,,ENST00000486053,;EXOC7,upstream_gene_variant,,ENST00000494787,;EXOC7,upstream_gene_variant,,ENST00000465252,;EXOC7,downstream_gene_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000460476,;	1146	62	62	SUCCESS
DSC2	1824	.	GRCh37	18	28662231	28662231	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	16	101	0	ENST00000280904.6:c.1236del	p.Asn413MetfsTer7	p.N413Mfs*7	ENST00000280904	NM_024422.3	412	acC/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS11892.1	1236	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCATTGGTTTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000280904	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000280904	Transcript	.	.	ENSG00000134755	3036	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DSC2_HUMAN	DSC2	HGNC	A9X9L1_HUMAN	.	UPI00001298F9	deletion	DSC2,frameshift_variant,p.Asn413MetfsTer7,ENST00000251081,;DSC2,frameshift_variant,p.Asn413MetfsTer7,ENST00000280904,;	1680	101	145	SUCCESS
EMILIN2	84034	.	GRCh37	18	2885112	2885112	+	synonymous_variant	Silent	SNP	T	T	A	rs1434873775	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	87	0	ENST00000254528.3:c.408T>A	p.Pro136=	p.P136=	ENST00000254528	NM_032048.2	136	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11828.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCTCGAAA	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5	.	.	ENSP00000254528	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000254528	Transcript	.	.	ENSG00000132205	19881	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMIL2_HUMAN	EMILIN2	HGNC	.	.	UPI000013CE3E	SNV	EMILIN2,synonymous_variant,p.%3D,ENST00000254528,;	567	87	99	SUCCESS
RIT2	6014	.	GRCh37	18	40323617	40323617	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	27	165	0	ENST00000326695.5:c.495C>T	p.Ala165=	p.A165=	ENST00000326695	NM_002930.3	165	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11921.1	495	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGCTGC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF203,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000321805	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000326695	Transcript	.	.	ENSG00000152214	10017	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RIT2_HUMAN	RIT2	HGNC	.	.	UPI0000073E97	SNV	RIT2,synonymous_variant,p.%3D,ENST00000326695,;RIT2,3_prime_UTR_variant,,ENST00000590910,;RIT2,3_prime_UTR_variant,,ENST00000589109,;	667	165	165	SUCCESS
C18orf54	162681	.	GRCh37	18	51888083	51888083	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1267980240	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	50	323	1	ENST00000300091.5:c.354A>G	p.Ile118Met	p.I118M	ENST00000300091	NM_173529.4	118	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS11956.1	354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATAGACTC	NONE	.	.	.	.	.	ENSP00000300091	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000300091	Transcript	.	.	ENSG00000166845	13796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	tolerated(0.11)	.	LAS2_HUMAN	C18orf54	HGNC	J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN	.	UPI0000074279	SNV	C18orf54,missense_variant,p.Ile118Met,ENST00000382911,;C18orf54,missense_variant,p.Ile118Met,ENST00000300091,;C18orf54,intron_variant,,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000584040,;STARD6,upstream_gene_variant,,ENST00000577499,;C18orf54,upstream_gene_variant,,ENST00000582188,;	686	324	246	SUCCESS
ANKRD12	23253	.	GRCh37	18	9254666	9254666	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	258	51	367	0	ENST00000262126.4:c.1401A>C	p.Lys467Asn	p.K467N	ENST00000262126	NM_015208.4	467	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS11843.1	1401	RADIA|MUTECT|MUSE|VARSCANS	.	CACAAACAGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Lys444Asn,ENST00000383440,;ANKRD12,missense_variant,p.Lys467Asn,ENST00000262126,;ANKRD12,missense_variant,p.Lys444Asn,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;Y_RNA,upstream_gene_variant,,ENST00000364013,;Y_RNA,downstream_gene_variant,,ENST00000384364,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	1641	367	309	SUCCESS
ZNF563	147837	.	GRCh37	19	12429549	12429549	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	112	0	ENST00000293725.5:c.1290A>T	p.Leu430Phe	p.L430F	ENST00000293725	NM_145276.2	430	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS12270.1	1290	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGATAACGC	BUFFER|p.A429T|c.1285G>A|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF14,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000293725	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000293725	Transcript	.	.	ENSG00000188868	30498	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	ZN563_HUMAN	ZNF563	HGNC	M0R1Q6_HUMAN	.	UPI0000072E62	SNV	ZNF563,missense_variant,p.Leu430Phe,ENST00000293725,;ZNF563,downstream_gene_variant,,ENST00000601858,;ZNF563,downstream_gene_variant,,ENST00000595977,;ZNF563,downstream_gene_variant,,ENST00000594577,;	1496	112	81	SUCCESS
FCHO1	23149	.	GRCh37	19	17877522	17877522	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	23	146	0	ENST00000252771.7:c.239A>C	p.Lys80Thr	p.K80T	ENST00000252771		80	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS59365.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAAGCTGG	NONE	.	.	PROSITE_profiles:PS50133,hmmpanther:PTHR23065:SF6,hmmpanther:PTHR23065,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657	.	.	ENSP00000473001	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000594202	Transcript	.	.	ENSG00000130475	29002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.626)	.	deleterious(0)	.	FCHO1_HUMAN	FCHO1	HGNC	M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN	.	UPI000059D6B0	SNV	FCHO1,missense_variant,p.Lys80Thr,ENST00000600209,;FCHO1,missense_variant,p.Lys80Thr,ENST00000596536,;FCHO1,missense_variant,p.Lys80Thr,ENST00000600676,;FCHO1,missense_variant,p.Lys80Thr,ENST00000596507,;FCHO1,missense_variant,p.Lys80Thr,ENST00000389133,;FCHO1,missense_variant,p.Lys30Thr,ENST00000593833,;FCHO1,missense_variant,p.Lys80Thr,ENST00000596865,;FCHO1,missense_variant,p.Lys80Thr,ENST00000598086,;FCHO1,missense_variant,p.Lys80Thr,ENST00000596309,;FCHO1,missense_variant,p.Lys80Thr,ENST00000597718,;FCHO1,missense_variant,p.Lys80Thr,ENST00000594202,;FCHO1,missense_variant,p.Lys80Thr,ENST00000598932,;FCHO1,missense_variant,p.Lys80Thr,ENST00000539407,;FCHO1,missense_variant,p.Lys87Thr,ENST00000597512,;FCHO1,missense_variant,p.Lys80Thr,ENST00000594068,;FCHO1,missense_variant,p.Lys80Thr,ENST00000595023,;FCHO1,missense_variant,p.Lys80Thr,ENST00000597474,;FCHO1,missense_variant,p.Lys80Thr,ENST00000252771,;FCHO1,missense_variant,p.Lys80Thr,ENST00000595549,;FCHO1,missense_variant,p.Lys30Thr,ENST00000595033,;FCHO1,missense_variant,p.Lys80Thr,ENST00000596951,;FCHO1,downstream_gene_variant,,ENST00000596462,;FCHO1,downstream_gene_variant,,ENST00000593385,;FCHO1,downstream_gene_variant,,ENST00000598067,;FCHO1,downstream_gene_variant,,ENST00000598539,;FCHO1,downstream_gene_variant,,ENST00000593870,;FCHO1,downstream_gene_variant,,ENST00000598960,;FCHO1,downstream_gene_variant,,ENST00000601247,;FCHO1,downstream_gene_variant,,ENST00000599236,;FCHO1,upstream_gene_variant,,ENST00000600393,;FCHO1,upstream_gene_variant,,ENST00000597076,;	518	146	128	SUCCESS
WDR87	83889	.	GRCh37	19	38376636	38376636	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373987886	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	155	0	ENST00000303868.5:c.7558G>A	p.Val2520Ile	p.V2520I	ENST00000303868	NM_031951.3	2520	Gta/Ata	0	T:0.0007	.	.	.	.	T	V/I	protein_coding	YES	CCDS46063.1	7558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTACGTCTG	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	rs373987886	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Val2559Ile,ENST00000447313,;WDR87,missense_variant,p.Val2520Ile,ENST00000303868,;	7783	155	108	SUCCESS
CLASRP	11129	.	GRCh37	19	45567337	45567337	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763017685	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	99	0	ENST00000221455.3:c.973A>G	p.Lys325Glu	p.K325E	ENST00000221455	NM_007056.2	325	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12652.2	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGAAGATC	NONE	.	.	hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4	.	.	ENSP00000221455	.	12/21	.	.	.	.	.	.	.	.	rs763017685	12/21	PASS	ENST00000221455	Transcript	.	.	ENSG00000104859	17731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.135)	.	tolerated(0.11)	.	CLASR_HUMAN	CLASRP	HGNC	K7EKC9_HUMAN	.	UPI000020262D	SNV	CLASRP,missense_variant,p.Lys263Glu,ENST00000391953,;CLASRP,missense_variant,p.Lys325Glu,ENST00000221455,;CLASRP,missense_variant,p.Lys325Glu,ENST00000544944,;CLASRP,upstream_gene_variant,,ENST00000591904,;CLASRP,missense_variant,p.Lys325Glu,ENST00000391952,;CLASRP,downstream_gene_variant,,ENST00000591410,;CLASRP,upstream_gene_variant,,ENST00000585432,;CLASRP,upstream_gene_variant,,ENST00000585615,;CLASRP,downstream_gene_variant,,ENST00000587112,;	1071	99	102	SUCCESS
PTPRH	5794	.	GRCh37	19	55715190	55715190	+	synonymous_variant	Silent	SNP	G	G	A	rs767275886	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	8	119	0	ENST00000376350.3:c.846C>T	p.Asp282=	p.D282=	ENST00000376350	NM_002842.3	282	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS33110.1	846	MUTECT|MUSE	.	ACTCCGTCTTT	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000365528	.	5/20	.	.	.	.	.	.	.	.	rs767275886	5/20	PASS	ENST00000376350	Transcript	.	.	ENSG00000080031	9672	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,synonymous_variant,p.%3D,ENST00000376350,;PTPRH,intron_variant,,ENST00000263434,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,downstream_gene_variant,,ENST00000587662,;PTPRH,downstream_gene_variant,,ENST00000586310,;PTPRH,downstream_gene_variant,,ENST00000588370,;PTPRH,downstream_gene_variant,,ENST00000586852,;	869	119	131	SUCCESS
ZNF135	7694	.	GRCh37	19	58579350	58579350	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs566725358	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	116	0	ENST00000313434.5:c.1498G>A	p.Gly500Ser	p.G500S	ENST00000313434	NM_003436.3	500	Ggc/Agc	0	.	A:0	.	A:0	.	A	G/S	protein_coding	YES	CCDS54329.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGGCAAG	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0.001	.	ENSP00000441410	A:0	4/4	.	.	.	.	.	.	.	.	rs566725358	4/4	PASS	ENST00000401053	Transcript	.	A:0.0002	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.337)	A:0	tolerated(0.07)	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Gly524Ser,ENST00000401053,;ZNF135,missense_variant,p.Gly458Ser,ENST00000506786,;ZNF135,missense_variant,p.Gly500Ser,ENST00000313434,;ZNF135,missense_variant,p.Gly512Ser,ENST00000511556,;ZNF135,missense_variant,p.Gly500Ser,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	1573	116	84	SUCCESS
MUC16	94025	.	GRCh37	19	9063744	9063744	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	6	158	0	ENST00000397910.4:c.23702C>A	p.Ala7901Glu	p.A7901E	ENST00000397910	NM_024690.2	7901	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS54212.1	23702	MUTECT|MUSE	.	TTTCTGCTGAT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ala7901Glu,ENST00000397910,;	23906	158	112	SUCCESS
WARS2	10352	.	GRCh37	1	119683215	119683215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	75	0	ENST00000235521.4:c.53C>A	p.Ala18Glu	p.A18E	ENST00000235521	NM_201263.2	18	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS900.1	53	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGCCCGG	NONE	.	.	hmmpanther:PTHR10055	.	.	ENSP00000235521	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000235521	Transcript	.	.	ENSG00000116874	12730	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.093)	.	tolerated(0.3)	.	SYWM_HUMAN	WARS2	HGNC	B7Z5X7_HUMAN	.	UPI000004A002	SNV	WARS2,missense_variant,p.Ala18Glu,ENST00000369426,;WARS2,missense_variant,p.Ala18Glu,ENST00000235521,;WARS2,upstream_gene_variant,,ENST00000537870,;RP11-418J17.1,non_coding_transcript_exon_variant,,ENST00000440150,;RP11-418J17.1,non_coding_transcript_exon_variant,,ENST00000425884,;RP11-418J17.1,upstream_gene_variant,,ENST00000413531,;RP11-418J17.1,upstream_gene_variant,,ENST00000418015,;RP11-418J17.1,upstream_gene_variant,,ENST00000457043,;WARS2,non_coding_transcript_exon_variant,,ENST00000497761,;WARS2,non_coding_transcript_exon_variant,,ENST00000495746,;	80	75	70	SUCCESS
KIAA2013	90231	.	GRCh37	1	11985893	11985893	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	48	0	ENST00000376572.3:c.402G>T	p.Leu134=	p.L134=	ENST00000376572	NM_138346.2	134	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS141.1	402	MUTECT|MUSE	.	TCAGCCAGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31386,Pfam_domain:PF10222	.	.	ENSP00000365756	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376572	Transcript	.	.	ENSG00000116685	28513	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K2013_HUMAN	KIAA2013	HGNC	.	.	UPI00000741FB	SNV	KIAA2013,synonymous_variant,p.%3D,ENST00000376576,;KIAA2013,synonymous_variant,p.%3D,ENST00000376572,;	588	48	25	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	138	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	138	67	SUCCESS
VPS13D	55187	.	GRCh37	1	12336568	12336568	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1432213993	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	78	0	ENST00000358136.3:c.2923A>G	p.Ile975Val	p.I975V	ENST00000358136	NM_015378.2	975	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS30588.1	2923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACATTTCT	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	19/70	.	.	.	.	.	.	.	.	.	19/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,missense_variant,p.Ile975Val,ENST00000358136,;VPS13D,missense_variant,p.Ile975Val,ENST00000356315,;VPS13D,upstream_gene_variant,,ENST00000011700,;	3053	78	71	SUCCESS
AGMAT	79814	.	GRCh37	1	15911427	15911427	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	40	0	ENST00000375826.3:c.36C>T	p.Gly12=	p.G12=	ENST00000375826	NM_024758.4	12	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS160.1	36	MUTECT|MUSE	.	CCCGGGCCCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000364986	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000375826	Transcript	.	.	ENSG00000116771	18407	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPEB_HUMAN	AGMAT	HGNC	.	.	UPI00000412AC	SNV	AGMAT,synonymous_variant,p.%3D,ENST00000375826,;RP4-680D5.2,downstream_gene_variant,,ENST00000428945,;DNAJC16,intron_variant,,ENST00000483270,;	179	40	27	SUCCESS
NUF2	83540	.	GRCh37	1	163318764	163318764	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	499	115	578	0	ENST00000271452.3:c.1154G>A	p.Gly385Asp	p.G385D	ENST00000271452	NM_145697.2	385	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1245.1	1154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGTGCTG	NONE	.	.	hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF2	.	.	ENSP00000271452	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000271452	Transcript	.	.	ENSG00000143228	14621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.44)	.	NUF2_HUMAN	NUF2	HGNC	E9PKH1_HUMAN,B1AQT4_HUMAN,B1AQT3_HUMAN	.	UPI000006D211	SNV	NUF2,missense_variant,p.Gly385Asp,ENST00000367900,;NUF2,missense_variant,p.Gly338Asp,ENST00000524800,;NUF2,missense_variant,p.Gly385Asp,ENST00000271452,;NUF2,downstream_gene_variant,,ENST00000527439,;NUF2,downstream_gene_variant,,ENST00000497990,;	1433	579	614	SUCCESS
TOR3A	64222	.	GRCh37	1	179054765	179054765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	41	127	0	ENST00000367627.3:c.376T>G	p.Leu126Val	p.L126V	ENST00000367627	NM_022371.3	126	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS1329.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCTTAGAG	NONE	.	.	hmmpanther:PTHR10760,hmmpanther:PTHR10760:SF3,Pfam_domain:PF06309,Superfamily_domains:SSF52540	.	.	ENSP00000356599	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000367627	Transcript	.	.	ENSG00000186283	11997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	TOR3A_HUMAN	TOR3A	HGNC	.	.	UPI000006F204	SNV	TOR3A,missense_variant,p.Leu18Val,ENST00000447595,;TOR3A,missense_variant,p.Leu126Val,ENST00000367627,;TOR3A,missense_variant,p.Leu126Val,ENST00000352445,;TOR3A,intron_variant,,ENST00000367625,;TOR3A,intron_variant,,ENST00000472001,;TOR3A,upstream_gene_variant,,ENST00000495145,;TOR3A,splice_region_variant,,ENST00000483887,;	1128	127	125	SUCCESS
USH2A	7399	.	GRCh37	1	216462647	216462647	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	19	118	0	ENST00000307340.3:c.1946G>A	p.Arg649Lys	p.R649K	ENST00000307340	NM_206933.2	649	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS31025.1	1946	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTAGTG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	11/72	.	.	.	.	.	.	.	.	.	11/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Arg649Lys,ENST00000366942,;USH2A,missense_variant,p.Arg649Lys,ENST00000366943,;USH2A,missense_variant,p.Arg649Lys,ENST00000307340,;	2333	118	128	SUCCESS
RYR2	6262	.	GRCh37	1	237754010	237754010	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	82	0	ENST00000366574.2:c.3878A>C	p.Gln1293Pro	p.Q1293P	ENST00000366574	NM_001035.2	1293	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS55691.1	3878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGAACA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	31/105	.	.	.	.	.	.	.	.	.	31/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Gln1277Pro,ENST00000542537,;RYR2,missense_variant,p.Gln1293Pro,ENST00000366574,;RYR2,missense_variant,p.Gln1291Pro,ENST00000360064,;	4195	82	64	SUCCESS
KIF26B	55083	.	GRCh37	1	245849955	245849955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	93	0	ENST00000407071.2:c.3670T>C	p.Ser1224Pro	p.S1224P	ENST00000407071	NM_018012.3	1224	Tcg/Ccg	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS44342.1	3670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCGGGC	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Ser1224Pro,ENST00000407071,;KIF26B,missense_variant,p.Ser843Pro,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	4110	93	61	SUCCESS
ZNF695	57116	.	GRCh37	1	247150827	247150827	+	synonymous_variant	Silent	SNP	G	G	T	rs1250964154	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	110	0	ENST00000339986.7:c.990C>A	p.Gly330=	p.G330=	ENST00000339986	NM_020394.4	330	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44344.1	990	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGCCACA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,PROSITE_profiles:PS50157	.	.	ENSP00000341236	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339986	Transcript	.	.	ENSG00000197472	30954	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN695_HUMAN	ZNF695	HGNC	.	.	UPI0000F734A8	SNV	ZNF695,synonymous_variant,p.%3D,ENST00000339986,;ZNF695,intron_variant,,ENST00000487338,;ZNF695,intron_variant,,ENST00000498046,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000479214,;ZNF670,intron_variant,,ENST00000474541,;ZNF695,intron_variant,,ENST00000491337,;ZNF670,intron_variant,,ENST00000465049,;	1138	110	107	SUCCESS
OR2T2	401992	.	GRCh37	1	248616773	248616773	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	335	46	324	0	ENST00000342927.3:c.675T>A	p.Thr225=	p.T225=	ENST00000342927	NM_001004136.1	225	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31116.1	675	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACTGTCCA	BUFFER|p.I222I|c.666C>T|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,synonymous_variant,p.%3D,ENST00000342927,;	697	324	382	SUCCESS
MACF1	23499	.	GRCh37	1	39750866	39750866	+	synonymous_variant	Silent	SNP	C	C	A	rs770636733	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	35	169	0	ENST00000372915.3:c.1258C>A	p.Arg420=	p.R420=	ENST00000372915		420	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS435.1	1258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCGGCCG	NONE	.	.	Superfamily_domains:SSF46966,Gene3D:1.20.58.60,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	12/94	.	.	.	.	.	.	.	.	rs770636733	12/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000361689,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000530262,;MACF1,synonymous_variant,p.%3D,ENST00000539005,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000317713,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,synonymous_variant,p.%3D,ENST00000545844,;MACF1,synonymous_variant,p.%3D,ENST00000524432,;MACF1,downstream_gene_variant,,ENST00000536367,;MACF1,synonymous_variant,p.%3D,ENST00000496804,;MACF1,non_coding_transcript_exon_variant,,ENST00000472385,;MACF1,downstream_gene_variant,,ENST00000485063,;MACF1,upstream_gene_variant,,ENST00000484393,;	1366	169	173	SUCCESS
USP24	23358	.	GRCh37	1	55619849	55619849	+	synonymous_variant	Silent	SNP	T	T	G	rs377666153	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	133	0	ENST00000294383.6:c.1755A>C	p.Ala585=	p.A585=	ENST00000294383	NM_015306.2	585	gcA/gcC	0	C:0	.	.	.	.	G	A	protein_coding	YES	CCDS44154.2	1755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTGCATA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349	.	C:0.0001	ENSP00000294383	.	15/68	.	.	.	.	.	.	.	.	rs377666153	15/68	PASS	ENST00000294383	Transcript	.	.	ENSG00000162402	12623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	SNV	USP24,synonymous_variant,p.%3D,ENST00000407756,;USP24,synonymous_variant,p.%3D,ENST00000294383,;	1755	133	87	SUCCESS
PTGER3	5733	.	GRCh37	1	71512635	71512635	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	120	0	ENST00000306666.5:c.626T>A	p.Phe209Tyr	p.F209Y	ENST00000306666	NM_198719.1	209	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS655.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGAAGCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01788	.	.	ENSP00000349003	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,missense_variant,p.Phe209Tyr,ENST00000370932,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000306666,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000351052,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000354608,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000356595,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000370924,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000460330,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000370931,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000414819,;ZRANB2-AS1,upstream_gene_variant,,ENST00000450461,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000361210,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000479353,;PTGER3,missense_variant,p.Phe209Tyr,ENST00000497146,;	837	120	93	SUCCESS
ERRFI1	54206	.	GRCh37	1	8073367	8073367	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	162	0	ENST00000377482.5:c.1292G>A	p.Gly431Asp	p.G431D	ENST00000377482	NM_018948.3	431	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS94.1	1292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATACCGCAG	NONE	.	.	hmmpanther:PTHR14254	.	.	ENSP00000366702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377482	Transcript	.	.	ENSG00000116285	18185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated_low_confidence(0.08)	.	ERRFI_HUMAN	ERRFI1	HGNC	I6S2Y9_HUMAN	.	UPI000012F0FC	SNV	ERRFI1,missense_variant,p.Gly431Asp,ENST00000377482,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,downstream_gene_variant,,ENST00000469499,;ERRFI1,downstream_gene_variant,,ENST00000467067,;ERRFI1,downstream_gene_variant,,ENST00000487559,;	1516	163	120	SUCCESS
GBP2	2634	.	GRCh37	1	89573865	89573865	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	42	1	ENST00000370466.3:c.1769T>C	p.Ile590Thr	p.I590T	ENST00000370466	NM_004120.4	590	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS719.1	1769	MUTECT|SOMATICSNIPER|VARSCANS	.	AGAGTATGTTA	NONE	.	.	.	.	.	ENSP00000359497	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000370466	Transcript	.	.	ENSG00000162645	4183	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.147)	.	deleterious(0.03)	.	GBP2_HUMAN	GBP2	HGNC	Q8TCE5_HUMAN	.	UPI000013E19F	SNV	GBP2,missense_variant,p.Ile590Thr,ENST00000370466,;GBP2,non_coding_transcript_exon_variant,,ENST00000493802,;GBP2,downstream_gene_variant,,ENST00000463660,;GBP2,missense_variant,p.Ile590Thr,ENST00000464839,;PTGES3P1,upstream_gene_variant,,ENST00000451566,;PTGES3P1,upstream_gene_variant,,ENST00000439531,;	2038	43	37	SUCCESS
NELFCD	51497	.	GRCh37	20	57568786	57568786	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	83	0	ENST00000602795.1:c.1602T>A	p.Thr534=	p.T534=	ENST00000602795	NM_198976.2	534	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13473.2	1602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACTGACAT	NONE	.	.	hmmpanther:PTHR12144,hmmpanther:PTHR12144:SF0,Pfam_domain:PF04858	.	.	ENSP00000473290	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000602795	Transcript	.	.	ENSG00000101158	15934	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NELFCD	HGNC	H0UI80_HUMAN	.	UPI0000D4E339	SNV	NELFCD,synonymous_variant,p.%3D,ENST00000344018,;NELFCD,synonymous_variant,p.%3D,ENST00000602795,;CTSZ,downstream_gene_variant,,ENST00000217131,;NELFCD,intron_variant,,ENST00000479207,;NELFCD,downstream_gene_variant,,ENST00000497935,;NELFCD,synonymous_variant,p.%3D,ENST00000460601,;NELFCD,non_coding_transcript_exon_variant,,ENST00000478389,;NELFCD,non_coding_transcript_exon_variant,,ENST00000474543,;NELFCD,intron_variant,,ENST00000477741,;CTSZ,downstream_gene_variant,,ENST00000503833,;NELFCD,downstream_gene_variant,,ENST00000482747,;CTSZ,downstream_gene_variant,,ENST00000488395,;NELFCD,upstream_gene_variant,,ENST00000486263,;NELFCD,downstream_gene_variant,,ENST00000490205,;	1650	83	78	SUCCESS
DIDO1	11083	.	GRCh37	20	61542449	61542449	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	93	0	ENST00000266070.4:c.516G>T	p.Arg172=	p.R172=	ENST00000266070	NM_033081.2	172	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33506.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCCGCTT	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,synonymous_variant,p.%3D,ENST00000354665,;DIDO1,synonymous_variant,p.%3D,ENST00000395340,;DIDO1,synonymous_variant,p.%3D,ENST00000370371,;DIDO1,synonymous_variant,p.%3D,ENST00000395343,;DIDO1,synonymous_variant,p.%3D,ENST00000266070,;DIDO1,synonymous_variant,p.%3D,ENST00000370368,;DIDO1,synonymous_variant,p.%3D,ENST00000266071,;DIDO1,synonymous_variant,p.%3D,ENST00000395335,;DIDO1,synonymous_variant,p.%3D,ENST00000370366,;	842	93	60	SUCCESS
PCNT	5116	.	GRCh37	21	47831466	47831466	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs563470468	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	139	0	ENST00000359568.5:c.5479G>T	p.Ala1827Ser	p.A1827S	ENST00000359568	NM_006031.5	1827	Gca/Tca	0	.	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS33592.1	5479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCGCAGAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	A:0	.	ENSP00000352572	A:0	28/47	.	.	.	.	.	.	.	.	rs563470468,COSM4102243	28/47	PASS	ENST00000359568	Transcript	.	A:0.0002	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.043)	A:0.001	.	0,1	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Ala1827Ser,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;	5586	139	96	SUCCESS
RIMBP3	85376	.	GRCh37	22	20457079	20457079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	306	24	506	0	ENST00000426804.1:c.4223A>G	p.Gln1408Arg	p.Q1408R	ENST00000426804	NM_015672.1	1408	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS46665.1	4223	MUTECT|MUSE	.	GTCCTTGCCTG	NONE	.	.	hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(1)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Gln1408Arg,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	4708	506	331	SUCCESS
CARD10	29775	.	GRCh37	22	37887846	37887846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	38	0	ENST00000251973.5:c.2780G>T	p.Arg927Leu	p.R927L	ENST00000251973	NM_014550.3	927	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS13948.1	2780	MUTECT|MUSE|VARSCANS	.	CACCCCGAGCA	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF4,Gene3D:3.40.50.300	.	.	ENSP00000384570	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000403299	Transcript	.	.	ENSG00000100065	16422	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.081)	.	tolerated(0.19)	.	CAR10_HUMAN	CARD10	HGNC	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN	.	UPI0000044645	SNV	CARD10,missense_variant,p.Arg927Leu,ENST00000251973,;CARD10,missense_variant,p.Arg641Leu,ENST00000406271,;CARD10,missense_variant,p.Arg927Leu,ENST00000403299,;CARD10,downstream_gene_variant,,ENST00000437756,;CARD10,downstream_gene_variant,,ENST00000433485,;CARD10,downstream_gene_variant,,ENST00000486118,;CARD10,non_coding_transcript_exon_variant,,ENST00000488141,;CARD10,non_coding_transcript_exon_variant,,ENST00000467812,;	2997	38	41	SUCCESS
TNFRSF13C	115650	.	GRCh37	22	42321473	42321473	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	68	0	ENST00000291232.3:c.453C>A	p.Asp151Glu	p.D151E	ENST00000291232	NM_052945.3	151	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS14024.1	453	MUTECT|MUSE	.	CCTGGGTCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20437:SF2,hmmpanther:PTHR20437	.	.	ENSP00000291232	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000291232	Transcript	.	.	ENSG00000159958	17755	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.08)	.	TR13C_HUMAN	TNFRSF13C	HGNC	Q5H8V1_HUMAN	.	UPI0000049F80	SNV	TNFRSF13C,missense_variant,p.Asp151Glu,ENST00000291232,;CTA-250D10.23,upstream_gene_variant,,ENST00000566575,;MIR378I,upstream_gene_variant,,ENST00000582688,;	498	68	46	SUCCESS
GLI2	2736	.	GRCh37	2	121736076	121736076	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121917708	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	273	67	367	0	ENST00000361492.4:c.1435C>T	p.Arg479Trp	p.R479W	ENST00000361492	NM_005270.4	479	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33283.1	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	GCACGCGGGAG	NONE	byFrequency|byCluster	.	SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818,PROSITE_profiles:PS50157	.	.	ENSP00000390436	.	10/14	.	.	.	.	.	.	.	.	CM066094,rs121917708	10/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Arg479Trp,ENST00000452319,;GLI2,missense_variant,p.Arg479Trp,ENST00000361492,;GLI2,missense_variant,p.Arg151Trp,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,downstream_gene_variant,,ENST00000433812,;	1495	367	341	SUCCESS
ARHGAP15	55843	.	GRCh37	2	144193255	144193255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	82	0	ENST00000295095.6:c.560C>A	p.Ala187Glu	p.A187E	ENST00000295095	NM_018460.3	187	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS2184.1	560	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCAATTG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF5,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000295095	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000295095	Transcript	.	.	ENSG00000075884	21030	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.36)	.	deleterious(0.01)	.	RHG15_HUMAN	ARHGAP15	HGNC	.	.	UPI0000035D98	SNV	ARHGAP15,missense_variant,p.Ala187Glu,ENST00000295095,;AC096558.1,intron_variant,,ENST00000549032,;AC096558.1,intron_variant,,ENST00000442794,;AC096558.1,intron_variant,,ENST00000550516,;RP11-570L15.2,intron_variant,,ENST00000546678,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000460776,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000548242,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000469117,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000474474,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000552641,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000548929,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000548800,;	727	82	50	SUCCESS
LY75	4065	.	GRCh37	2	160708804	160708804	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	28	169	0	ENST00000263636.4:c.2791G>A	p.Glu931Lys	p.E931K	ENST00000263636	NM_002349.3	931	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS56141.1	2791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCACAGA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	21/39	.	.	.	.	.	.	.	.	.	21/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Glu931Lys,ENST00000504764,;LY75,missense_variant,p.Glu931Lys,ENST00000553424,;LY75,missense_variant,p.Glu931Lys,ENST00000554112,;LY75,missense_variant,p.Glu931Lys,ENST00000263636,;LY75-CD302,missense_variant,p.Glu931Lys,ENST00000505052,;	2819	169	147	SUCCESS
XIRP2	129446	.	GRCh37	2	168101315	168101315	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1172983031	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	251	49	303	0	ENST00000409195.1:c.3413C>A	p.Thr1138Asn	p.T1138N	ENST00000409195	NM_152381.5	1138	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS42769.1	3413	RADIA|MUTECT|MUSE|VARSCANS	.	TGATACCATAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Thr916Asn,ENST00000409273,;XIRP2,missense_variant,p.Thr1138Asn,ENST00000409195,;XIRP2,missense_variant,p.Thr1138Asn,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	3502	303	301	SUCCESS
ZNF385B	151126	.	GRCh37	2	180634264	180634264	+	synonymous_variant	Silent	SNP	G	G	A	rs370441083	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	78	0	ENST00000410066.1:c.219C>T	p.Pro73=	p.P73=	ENST00000410066	NM_152520.4	73	ccC/ccT	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS33339.1	219	MUTECT|MUSE|VARSCANS	.	TGGGCGGGTGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067	.	A:0.0002	ENSP00000386845	.	3/10	.	.	.	.	.	.	.	.	rs370441083	3/10	PASS	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,synonymous_variant,p.%3D,ENST00000451732,;ZNF385B,synonymous_variant,p.%3D,ENST00000410066,;ZNF385B,downstream_gene_variant,,ENST00000438871,;	823	78	66	SUCCESS
ORC2	4999	.	GRCh37	2	201798638	201798638	+	synonymous_variant	Silent	SNP	A	A	G	rs149149549	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	123	0	ENST00000234296.2:c.768T>C	p.Asp256=	p.D256=	ENST00000234296	NM_006190.4	256	gaT/gaC	0	G:0	.	.	.	.	G	D	protein_coding	YES	CCDS2334.1	768	MUTECT|MUSE	.	GTTCTATCAGA	NONE	byCluster	.	hmmpanther:PTHR14052,hmmpanther:PTHR14052:SF0,Pfam_domain:PF04084	.	G:0.0001	ENSP00000234296	.	10/18	.	.	.	.	.	.	.	.	rs149149549	10/18	PASS	ENST00000234296	Transcript	.	.	ENSG00000115942	8488	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ORC2_HUMAN	ORC2	HGNC	C9JK08_HUMAN,B8ZZ80_HUMAN	.	UPI0000130E5A	SNV	ORC2,synonymous_variant,p.%3D,ENST00000234296,;ORC2,non_coding_transcript_exon_variant,,ENST00000474877,;	1018	123	116	SUCCESS
C2orf80	389073	.	GRCh37	2	209045541	209045541	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	51	262	0	ENST00000341287.4:c.295-1G>T		p.X99_splice	ENST00000341287	NM_001099334.2	99		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42809.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCTGTTA	NONE	.	.	.	.	.	ENSP00000343171	.	.	.	.	.	.	.	.	.	.	COSM2714695	.	PASS	ENST00000341287	Transcript	.	.	ENSG00000188674	34352	.	.	HIGH	5/8	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CB080_HUMAN	C2orf80	HGNC	C9JTX0_HUMAN,C9JAS9_HUMAN	.	UPI00001D7E1A	SNV	C2orf80,splice_acceptor_variant,,ENST00000451346,;C2orf80,splice_acceptor_variant,,ENST00000428015,;C2orf80,splice_acceptor_variant,,ENST00000341287,;C2orf80,splice_acceptor_variant,,ENST00000451342,;C2orf80,splice_acceptor_variant,,ENST00000453017,;C2orf80,splice_acceptor_variant,,ENST00000423952,;C2orf80,downstream_gene_variant,,ENST00000449053,;	.	262	251	SUCCESS
ITM2C	81618	.	GRCh37	2	231742197	231742197	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	10	187	0	ENST00000326427.6:c.644G>A	p.Gly215Glu	p.G215E	ENST00000326427	NM_030926.4	215	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2479.1	644	MUTECT|MUSE	.	CCTGGGGTCCT	NONE	.	.	PROSITE_profiles:PS50869,hmmpanther:PTHR10962:SF5,hmmpanther:PTHR10962,Pfam_domain:PF04089,SMART_domains:SM01039	.	.	ENSP00000322730	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000326427	Transcript	.	.	ENSG00000135916	6175	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITM2C_HUMAN	ITM2C	HGNC	F5H4I5_HUMAN,E7EUS6_HUMAN,C9JG41_HUMAN,B8ZZM6_HUMAN	.	UPI0000001BF2	SNV	ITM2C,missense_variant,p.Gly215Glu,ENST00000326427,;ITM2C,missense_variant,p.Gly153Glu,ENST00000409704,;ITM2C,missense_variant,p.Gly168Glu,ENST00000335005,;ITM2C,missense_variant,p.Gly178Glu,ENST00000326407,;ITM2C,downstream_gene_variant,,ENST00000543957,;ITM2C,downstream_gene_variant,,ENST00000418408,;ITM2C,downstream_gene_variant,,ENST00000457215,;ITM2C,downstream_gene_variant,,ENST00000541852,;ITM2C,downstream_gene_variant,,ENST00000492029,;	770	187	187	SUCCESS
ECEL1	9427	.	GRCh37	2	233350944	233350944	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	77	1	ENST00000304546.1:c.420C>A	p.Ile140=	p.I140=	ENST00000304546	NM_004826.2	140	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS2493.1	420	MUTECT|MUSE	.	TCGGGGATGGC	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,synonymous_variant,p.%3D,ENST00000409941,;ECEL1,synonymous_variant,p.%3D,ENST00000304546,;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	631	78	85	SUCCESS
CHRND	1144	.	GRCh37	2	233392134	233392134	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	45	100	0	ENST00000258385.3:c.222T>A	p.Thr74=	p.T74=	ENST00000258385	NM_000751.2	74	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2494.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACTACCAA	NONE	.	.	hmmpanther:PTHR18945:SF61,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00254,Prints_domain:PR00252	.	.	ENSP00000258385	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000258385	Transcript	.	.	ENSG00000135902	1965	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACHD_HUMAN	CHRND	HGNC	.	.	UPI000012525E	SNV	CHRND,synonymous_variant,p.%3D,ENST00000536614,;CHRND,synonymous_variant,p.%3D,ENST00000258385,;CHRND,5_prime_UTR_variant,,ENST00000457943,;CHRND,intron_variant,,ENST00000449596,;CHRND,intron_variant,,ENST00000543200,;PRSS56,downstream_gene_variant,,ENST00000449534,;CHRND,synonymous_variant,p.%3D,ENST00000412233,;CHRND,synonymous_variant,p.%3D,ENST00000441621,;CHRND,synonymous_variant,p.%3D,ENST00000446616,;PRSS56,downstream_gene_variant,,ENST00000602410,;	254	100	109	SUCCESS
COL6A3	1293	.	GRCh37	2	238296564	238296564	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs905662421	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	9	215	0	ENST00000295550.4:c.973G>A	p.Ala325Thr	p.A325T	ENST00000295550	NM_004369.3	325	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33412.1	973	MUTECT|MUSE	.	AAGGGCGAGGC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	4/44	.	.	.	.	.	.	.	.	COSM268934,COSM3051554	4/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.99)	.	.	1,1	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Ala119Thr,ENST00000409809,;COL6A3,missense_variant,p.Ala325Thr,ENST00000295550,;COL6A3,missense_variant,p.Ala325Thr,ENST00000433762,;COL6A3,missense_variant,p.Ala325Thr,ENST00000346358,;COL6A3,missense_variant,p.Ala53Thr,ENST00000491233,;COL6A3,missense_variant,p.Ala119Thr,ENST00000353578,;COL6A3,missense_variant,p.Ala119Thr,ENST00000392004,;COL6A3,intron_variant,,ENST00000392003,;COL6A3,intron_variant,,ENST00000472056,;COL6A3,intron_variant,,ENST00000347401,;	1426	215	189	SUCCESS
C2orf71	0	.	GRCh37	2	29296299	29296299	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	80	0	ENST00000331664.5:c.829A>G	p.Lys277Glu	p.K277E	ENST00000331664	NM_001029883.2	277	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS42669.1	829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTGCTGA	NONE	.	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,missense_variant,p.Lys277Glu,ENST00000331664,;	829	80	49	SUCCESS
AFTPH	54812	.	GRCh37	2	64800193	64800193	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	25	328	0	ENST00000238855.7:c.2385T>A	p.Asp795Glu	p.D795E	ENST00000238855	NM_203437.3	795	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS46303.1	2385	MUTECT|MUSE|VARSCANS	.	TCTGATCAGTT	NONE	.	.	hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156	.	.	ENSP00000238855	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000238855	Transcript	.	.	ENSG00000119844	25951	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.099)	.	deleterious(0)	.	AFTIN_HUMAN	AFTPH	HGNC	.	.	UPI00003E1F8E	SNV	AFTPH,missense_variant,p.Asp795Glu,ENST00000422803,;AFTPH,missense_variant,p.Asp426Glu,ENST00000409183,;AFTPH,missense_variant,p.Asp795Glu,ENST00000409933,;AFTPH,missense_variant,p.Asp795Glu,ENST00000238855,;AFTPH,missense_variant,p.Asp795Glu,ENST00000238856,;AFTPH,non_coding_transcript_exon_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;	2699	328	277	SUCCESS
GPR149	344758	.	GRCh37	3	154146848	154146848	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764926533	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	12	179	0	ENST00000389740.2:c.557G>T	p.Cys186Phe	p.C186F	ENST00000389740	NM_001038705.1	186	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS43162.1	557	MUTECT|MUSE|VARSCANS	.	TGGAGCAGTCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF32,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000374390	.	1/4	.	.	.	.	.	.	.	.	rs764926533,COSM1582565	1/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.811)	.	tolerated(0.05)	0,1	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,missense_variant,p.Cys186Phe,ENST00000389740,;	657	179	133	SUCCESS
TTC14	151613	.	GRCh37	3	180320103	180320103	+	synonymous_variant	Silent	SNP	C	C	T	rs745342967	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	38	0	ENST00000296015.4:c.54C>T	p.Leu18=	p.L18=	ENST00000296015	NM_133462.3	18	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3237.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCTCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184	.	.	ENSP00000296015	.	1/12	.	.	.	.	.	.	.	.	rs745342967	1/12	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,synonymous_variant,p.%3D,ENST00000491380,;TTC14,synonymous_variant,p.%3D,ENST00000382584,;TTC14,synonymous_variant,p.%3D,ENST00000296015,;TTC14,synonymous_variant,p.%3D,ENST00000412756,;TTC14,upstream_gene_variant,,ENST00000492617,;CCDC39,downstream_gene_variant,,ENST00000473854,;TTC14,upstream_gene_variant,,ENST00000495660,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,synonymous_variant,p.%3D,ENST00000465065,;TTC14,synonymous_variant,p.%3D,ENST00000470669,;TTC14,synonymous_variant,p.%3D,ENST00000462895,;	186	38	52	SUCCESS
OPA1	4976	.	GRCh37	3	193376712	193376712	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	92	0	ENST00000392438.3:c.2203A>T	p.Ile735Leu	p.I735L	ENST00000392438	NM_015560.2	735	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS33917.1	2314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCATATCT	NONE	.	.	hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF12	.	.	ENSP00000354681	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,missense_variant,p.Ile736Leu,ENST00000361150,;OPA1,missense_variant,p.Ile754Leu,ENST00000361715,;OPA1,missense_variant,p.Ile772Leu,ENST00000361908,;OPA1,missense_variant,p.Ile753Leu,ENST00000361828,;OPA1,missense_variant,p.Ile735Leu,ENST00000392438,;OPA1,missense_variant,p.Ile790Leu,ENST00000361510,;OPA1,upstream_gene_variant,,ENST00000445863,;OPA1,non_coding_transcript_exon_variant,,ENST00000482865,;	2548	92	103	SUCCESS
DLG1	1739	.	GRCh37	3	196910931	196910931	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	2	12	0	ENST00000419354.1:c.483+10365A>T		p.*161*	ENST00000419354				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3327.1	.	MUTECT|MUSE	.	TAAGGTGGATT	NONE	.	.	.	.	.	ENSP00000345731	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000346964	Transcript	.	.	ENSG00000075711	2900	.	.	MODIFIER	5/25	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLG1_HUMAN	DLG1	HGNC	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN	.	UPI000013CD24	SNV	DLG1,5_prime_UTR_variant,,ENST00000452595,;DLG1,intron_variant,,ENST00000453607,;DLG1,intron_variant,,ENST00000450955,;DLG1,intron_variant,,ENST00000392382,;DLG1,intron_variant,,ENST00000357674,;DLG1,intron_variant,,ENST00000392380,;DLG1,intron_variant,,ENST00000456699,;DLG1,intron_variant,,ENST00000422288,;DLG1,intron_variant,,ENST00000448528,;DLG1,intron_variant,,ENST00000346964,;DLG1,intron_variant,,ENST00000419354,;DLG1,intron_variant,,ENST00000314062,;DLG1,upstream_gene_variant,,ENST00000443183,;DLG1,upstream_gene_variant,,ENST00000447466,;DLG1,intron_variant,,ENST00000392381,;DLG1,intron_variant,,ENST00000471733,;DLG1,intron_variant,,ENST00000419227,;	.	12	8	SUCCESS
SUSD5	26032	.	GRCh37	3	33194281	33194281	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs555254159	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	5	155	0	ENST00000309558.3:c.1843C>T	p.Arg615Trp	p.R615W	ENST00000309558	NM_015551.1	615	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS46787.1	1843	MUTECT|MUSE	.	CTGCCGCTGGC	NONE	by1000G	.	hmmpanther:PTHR32493:SF0,hmmpanther:PTHR32493	A:0	.	ENSP00000308727	A:0	5/5	.	.	.	.	.	.	.	.	rs555254159,COSM1043700	5/5	PASS	ENST00000309558	Transcript	.	A:0.0002	ENSG00000173705	29061	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.983)	A:0.001	deleterious(0.03)	0,1	SUSD5_HUMAN	SUSD5	HGNC	.	.	UPI00001C1DF3	SNV	SUSD5,missense_variant,p.Arg615Trp,ENST00000309558,;SUSD5,downstream_gene_variant,,ENST00000412539,;	2261	155	130	SUCCESS
GLYCTK	132158	.	GRCh37	3	52324605	52324605	+	synonymous_variant	Silent	SNP	C	C	T	rs374934931	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	109	0	ENST00000436784.2:c.247C>T	p.Leu83=	p.L83=	ENST00000436784		83	Ctg/Ttg	0	T:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS2852.1	247	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCTGGTG	NONE	.	.	Superfamily_domains:0051940,Pfam_domain:PF13660,Gene3D:1x3lA02,hmmpanther:PTHR12227,hmmpanther:PTHR12227:SF0	.	T:0	ENSP00000389175	.	2/5	.	.	.	.	.	.	.	.	rs374934931	2/5	PASS	ENST00000436784	Transcript	.	.	ENSG00000168237	24247	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLCTK_HUMAN	GLYCTK	HGNC	.	.	UPI000004FD5A	SNV	GLYCTK,synonymous_variant,p.%3D,ENST00000354773,;GLYCTK,synonymous_variant,p.%3D,ENST00000473032,;GLYCTK,synonymous_variant,p.%3D,ENST00000477382,;GLYCTK,synonymous_variant,p.%3D,ENST00000436784,;GLYCTK,synonymous_variant,p.%3D,ENST00000305690,;GLYCTK,intron_variant,,ENST00000471180,;GLYCTK,intron_variant,,ENST00000461183,;WDR82,upstream_gene_variant,,ENST00000463624,;MIR135A1,downstream_gene_variant,,ENST00000385191,;GLYCTK-AS1,intron_variant,,ENST00000493616,;GLYCTK,synonymous_variant,p.%3D,ENST00000486393,;GLYCTK,non_coding_transcript_exon_variant,,ENST00000473583,;GLYCTK,upstream_gene_variant,,ENST00000489173,;GLYCTK-AS1,downstream_gene_variant,,ENST00000467187,;	307	109	85	SUCCESS
SEMA3G	56920	.	GRCh37	3	52471666	52471666	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	39	142	0	ENST00000231721.2:c.1755T>A	p.Leu585=	p.L585=	ENST00000231721	NM_020163.1	585	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2856.1	1755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACAAGTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20	.	.	ENSP00000231721	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000231721	Transcript	.	.	ENSG00000010319	30400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3G_HUMAN	SEMA3G	HGNC	.	.	UPI000004250D	SNV	SEMA3G,synonymous_variant,p.%3D,ENST00000231721,;SEMA3G,downstream_gene_variant,,ENST00000475739,;SEMA3G,downstream_gene_variant,,ENST00000465657,;	1755	142	140	SUCCESS
PAPSS1	9061	.	GRCh37	4	108608317	108608339	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTTGCATTGTTGCGATCCTTAAA	CTTGCATTGTTGCGATCCTTAAA	-	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	CTTGCATTGTTGCGATCCTTAAA	CTTGCATTGTTGCGATCCTTAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	68	0	ENST00000265174.4:c.412-6_428del		p.X138_splice	ENST00000265174	NM_005443.4	138		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3676.1	?-428	VARSCANI*|PINDEL	.	ATTTGCCTTGCATTGTTGCGATCCTTAAAAAAAA	NONE	.	.	.	.	.	ENSP00000265174	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000265174	Transcript	.	.	ENSG00000138801	8603	.	.	HIGH	3/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAPS1_HUMAN	PAPSS1	HGNC	Q6IAX6_HUMAN,Q4W5H3_HUMAN,Q4W5F0_HUMAN	.	UPI0000132102	deletion	PAPSS1,splice_acceptor_variant,,ENST00000265174,;PAPSS1,splice_acceptor_variant,,ENST00000514489,;PAPSS1,splice_acceptor_variant,,ENST00000502431,;PAPSS1,splice_acceptor_variant,,ENST00000511304,;PAPSS1,splice_acceptor_variant,,ENST00000506544,;	?-701	68	54	SUCCESS
EGF	1950	.	GRCh37	4	110865040	110865040	+	synonymous_variant	Silent	SNP	A	A	G	rs369090159	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	31	183	0	ENST00000265171.5:c.552A>G	p.Arg184=	p.R184=	ENST00000265171	NM_001963.4	184	agA/agG	0	G:0	.	.	.	.	G	R	protein_coding	YES	CCDS3689.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGAGCAGA	NONE	byCluster	.	Superfamily_domains:SSF63825,PIRSF_domain:PIRSF001778,SMART_domains:SM00135,Gene3D:2.120.10.30,PROSITE_profiles:PS51120	.	G:0.0001	ENSP00000265171	.	4/24	.	.	.	.	.	.	.	.	rs369090159	4/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,synonymous_variant,p.%3D,ENST00000503392,;EGF,synonymous_variant,p.%3D,ENST00000265171,;EGF,synonymous_variant,p.%3D,ENST00000509793,;EGF,non_coding_transcript_exon_variant,,ENST00000502723,;	997	183	180	SUCCESS
PLRG1	5356	.	GRCh37	4	155462030	155462030	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	24	169	0	ENST00000499023.2:c.744T>C	p.Thr248=	p.T248=	ENST00000499023	NM_001201564.1	248	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS34083.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACAGTACT	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000424417	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000499023	Transcript	.	.	ENSG00000171566	9089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLRG1_HUMAN	PLRG1	HGNC	.	.	UPI0000070B39	SNV	PLRG1,synonymous_variant,p.%3D,ENST00000302078,;PLRG1,synonymous_variant,p.%3D,ENST00000393905,;PLRG1,synonymous_variant,p.%3D,ENST00000499023,;PLRG1,downstream_gene_variant,,ENST00000504341,;PLRG1,upstream_gene_variant,,ENST00000503251,;RNU6-1285P,downstream_gene_variant,,ENST00000363480,;PLRG1,synonymous_variant,p.%3D,ENST00000506627,;PLRG1,3_prime_UTR_variant,,ENST00000506192,;PLRG1,upstream_gene_variant,,ENST00000512773,;PLRG1,downstream_gene_variant,,ENST00000512719,;PLRG1,upstream_gene_variant,,ENST00000507125,;PLRG1,downstream_gene_variant,,ENST00000506918,;	871	169	143	SUCCESS
TNIP2	79155	.	GRCh37	4	2746185	2746185	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145123249	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	7	107	0	ENST00000315423.7:c.955C>T	p.Arg319Trp	p.R319W	ENST00000315423	NM_024309.3	319	Cgg/Tgg	0	T:0.0007	T:0.0015	.	T:0	.	A	R/W	protein_coding	YES	CCDS3362.1	955	MUTECT|MUSE|VARSCANS	.	AGCCCGTTCCC	NONE	byFrequency|byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF4,Gene3D:1.20.5.990	T:0	T:0	ENSP00000321203	T:0.001	5/6	.	.	.	.	.	.	.	.	rs145123249	5/6	PASS	ENST00000315423	Transcript	.	T:0.0006	ENSG00000168884	19118	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	T:0	deleterious(0)	.	TNIP2_HUMAN	TNIP2	HGNC	.	.	UPI00000702D2	SNV	TNIP2,missense_variant,p.Arg236Trp,ENST00000503235,;TNIP2,missense_variant,p.Arg319Trp,ENST00000315423,;TNIP2,missense_variant,p.Arg212Trp,ENST00000510267,;TNIP2,non_coding_transcript_exon_variant,,ENST00000505186,;TNIP2,non_coding_transcript_exon_variant,,ENST00000502256,;TNIP2,downstream_gene_variant,,ENST00000511352,;TNIP2,downstream_gene_variant,,ENST00000507686,;	1042	107	83	SUCCESS
UGT2A3	79799	.	GRCh37	4	69795677	69795677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	27	160	0	ENST00000251566.4:c.1438G>A	p.Asp480Asn	p.D480N	ENST00000251566	NM_024743.3	480	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3525.1	1438	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCATGGG	NONE	.	.	Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF130	.	.	ENSP00000251566	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000251566	Transcript	.	.	ENSG00000135220	28528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.59)	.	UD2A3_HUMAN	UGT2A3	HGNC	F5GY78_HUMAN	.	UPI000004E644	SNV	UGT2A3,missense_variant,p.Asp480Asn,ENST00000251566,;UGT2A3,missense_variant,p.Asp191Asn,ENST00000420231,;UGT2A3,3_prime_UTR_variant,,ENST00000503012,;	1469	160	166	SUCCESS
NPFFR2	10886	.	GRCh37	4	72897911	72897911	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200084669	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	17	307	1	ENST00000308744.6:c.293G>A	p.Arg98Gln	p.R98Q	ENST00000308744	NM_004885.2	98	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3551.1	293	MUTECT|MUSE	.	TCGCCGGGAGA	NONE	by1000G	.	.	.	.	ENSP00000307822	.	1/4	.	.	.	.	.	.	.	.	rs200084669,COSM588190	1/4	PASS	ENST00000308744	Transcript	.	.	ENSG00000056291	4525	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0)	.	tolerated_low_confidence(0.26)	0,1	NPFF2_HUMAN	NPFFR2	HGNC	A0PJM9_HUMAN	.	UPI000012FFBD	SNV	NPFFR2,missense_variant,p.Arg98Gln,ENST00000308744,;NPFFR2,missense_variant,p.Arg98Gln,ENST00000344413,;	391	309	215	SUCCESS
PDLIM5	10611	.	GRCh37	4	95583576	95583576	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	54	0	ENST00000317968.4:c.1589A>G	p.Tyr530Cys	p.Y530C	ENST00000317968	NM_001256428.1	530	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS58916.1	1676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTATTATG	NONE	.	.	Superfamily_domains:SSF57716,Gene3D:2.10.110.10,Pfam_domain:PF00412,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF32,PROSITE_profiles:PS50023	.	.	ENSP00000424360	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000514743	Transcript	.	.	ENSG00000163110	17468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PDLIM5	HGNC	D6RB78_HUMAN	.	UPI000013E231	SNV	PDLIM5,missense_variant,p.Tyr559Cys,ENST00000514743,;PDLIM5,missense_variant,p.Tyr427Cys,ENST00000503974,;PDLIM5,missense_variant,p.Tyr530Cys,ENST00000317968,;PDLIM5,missense_variant,p.Tyr421Cys,ENST00000437932,;PDLIM5,missense_variant,p.Tyr408Cys,ENST00000542407,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000380176,;PDLIM5,downstream_gene_variant,,ENST00000506632,;	1720	54	46	SUCCESS
TENM2	57451	.	GRCh37	5	167689579	167689579	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769914301	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	12	149	0	ENST00000518659.1:c.8089G>A	p.Asp2697Asn	p.D2697N	ENST00000518659	NM_001122679.1	2697	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	8089	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGACCAG	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Pfam_domain:PF15636	.	.	ENSP00000429430	.	29/29	.	.	.	.	.	.	.	.	rs769914301	29/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	tolerated(0.06)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Asp2696Asn,ENST00000545108,;TENM2,missense_variant,p.Asp2458Asn,ENST00000520394,;TENM2,missense_variant,p.Asp2576Asn,ENST00000519204,;TENM2,missense_variant,p.Asp2697Asn,ENST00000518659,;TENM2,missense_variant,p.Asp2521Asn,ENST00000403607,;	8128	149	124	SUCCESS
SH3PXD2B	285590	.	GRCh37	5	171766062	171766062	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	92	0	ENST00000311601.5:c.2047G>T	p.Gly683Trp	p.G683W	ENST00000311601	NM_001017995.2	683	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS34291.1	2047	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCATCCA	NONE	.	.	hmmpanther:PTHR15706:SF8,hmmpanther:PTHR15706	.	.	ENSP00000309714	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000311601	Transcript	1	.	ENSG00000174705	29242	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.599)	.	deleterious(0)	.	SPD2B_HUMAN	SH3PXD2B	HGNC	.	.	UPI000020C12E	SNV	SH3PXD2B,missense_variant,p.Gly683Trp,ENST00000311601,;SH3PXD2B,intron_variant,,ENST00000519643,;SH3PXD2B,intron_variant,,ENST00000518522,;SH3PXD2B,upstream_gene_variant,,ENST00000523651,;	2218	92	83	SUCCESS
HK3	3101	.	GRCh37	5	176310869	176310869	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs769243803	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	80	0	ENST00000292432.5:c.1955C>T	p.Ala652Val	p.A652V	ENST00000292432	NM_002115.2	652	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4407.1	1955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGCCTGC	NONE	byFrequency	.	hmmpanther:PTHR19443:SF1,hmmpanther:PTHR19443,Pfam_domain:PF00349,Gene3D:3.30.420.40,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	15/19	.	.	.	.	.	.	.	.	rs769243803	15/19	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	deleterious(0.03)	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,missense_variant,p.Ala652Val,ENST00000292432,;HK3,missense_variant,p.Ala33Val,ENST00000514058,;UNC5A,downstream_gene_variant,,ENST00000329542,;UNC5A,downstream_gene_variant,,ENST00000261961,;HK3,splice_region_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000514666,;	2047	80	94	SUCCESS
CDH18	1016	.	GRCh37	5	19473363	19473363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	20	171	0	ENST00000274170.4:c.2345G>T	p.Gly782Val	p.G782V	ENST00000274170		782	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3889.1	2345	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCCATAG	NONE	.	.	Pfam_domain:PF01049,Gene3D:4.10.900.10,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	.	.	ENSP00000425093	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.688)	.	deleterious(0)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Gly782Val,ENST00000382275,;CDH18,missense_variant,p.Gly782Val,ENST00000274170,;CDH18,missense_variant,p.Gly782Val,ENST00000507958,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	3336	171	150	SUCCESS
NIPBL	25836	.	GRCh37	5	37048674	37048674	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	385	110	532	0	ENST00000282516.8:c.6660A>G	p.Leu2220=	p.L2220=	ENST00000282516	NM_133433.3	2220	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3920.1	6660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTATCTGA	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Gene3D:1.25.10.10	.	.	ENSP00000282516	.	39/47	.	.	.	.	.	.	.	.	.	39/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;NIPBL,upstream_gene_variant,,ENST00000514335,;	7159	532	495	SUCCESS
BDP1	55814	.	GRCh37	5	70806321	70806321	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	53	235	0	ENST00000358731.4:c.3402G>A	p.Val1134=	p.V1134=	ENST00000358731	NM_018429.2	1134	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43328.1	3402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGATTGA	NONE	.	.	hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929	.	.	ENSP00000351575	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000358731	Transcript	.	.	ENSG00000145734	13652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BDP1_HUMAN	BDP1	HGNC	.	.	UPI000020CA90	SNV	BDP1,synonymous_variant,p.%3D,ENST00000358731,;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;	3665	235	227	SUCCESS
SLC2A12	154091	.	GRCh37	6	134323190	134323190	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	79	0	ENST00000275230.5:c.1645A>C	p.Ile549Leu	p.I549L	ENST00000275230	NM_145176.2	549	Ata/Cta	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS5169.1	1645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTATAAACA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF91,hmmpanther:PTHR24063,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000275230	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000275230	Transcript	.	.	ENSG00000146411	18067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.04)	.	GTR12_HUMAN	SLC2A12	HGNC	.	.	UPI000004DB98	SNV	SLC2A12,missense_variant,p.Ile549Leu,ENST00000275230,;	1801	79	78	SUCCESS
PLG	5340	.	GRCh37	6	161127481	161127481	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	594	119	568	0	ENST00000308192.9:c.92del	p.Ala31ValfsTer16	p.A31Vfs*16	ENST00000308192	NM_000301.3	31	gCt/gt	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS5279.1	92	VARSCANI*|PINDEL	.	AGGGGGCTTCAC	NONE	.	.	PROSITE_profiles:PS50948,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,Pfam_domain:PF00024,Gene3D:3.50.4.10,SMART_domains:SM00473,PIRSF_domain:PIRSF001150,Superfamily_domains:SSF57414	.	.	ENSP00000308938	.	2/19	.	.	.	.	.	.	.	.	COSM3860171	2/19	PASS	ENST00000308192	Transcript	.	.	ENSG00000122194	9071	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PLMN_HUMAN	PLG	HGNC	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN	.	UPI000000D8B8	deletion	PLG,frameshift_variant,p.Ala31ValfsTer16,ENST00000366924,;PLG,frameshift_variant,p.Ala31ValfsTer16,ENST00000418964,;PLG,frameshift_variant,p.Ala31ValfsTer16,ENST00000308192,;PLG,non_coding_transcript_exon_variant,,ENST00000483038,;PLG,non_coding_transcript_exon_variant,,ENST00000462918,;PLG,non_coding_transcript_exon_variant,,ENST00000494325,;PLG,intron_variant,,ENST00000297289,;PLG,non_coding_transcript_exon_variant,,ENST00000484367,;PLG,non_coding_transcript_exon_variant,,ENST00000471691,;	155	568	713	SUCCESS
PACRG	135138	.	GRCh37	6	163735950	163735950	+	synonymous_variant	Silent	SNP	C	C	T	rs769427583	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	56	246	0	ENST00000337019.3:c.822C>T	p.Tyr274=	p.Y274=	ENST00000337019	NM_152410.2	274	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS5284.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTACGGAGG	NONE	byFrequency	.	hmmpanther:PTHR21207,Pfam_domain:PF10274	.	.	ENSP00000337946	.	7/7	.	.	.	.	.	.	.	.	rs769427583	7/7	PASS	ENST00000337019	Transcript	.	.	ENSG00000112530	19152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACRG_HUMAN	PACRG	HGNC	.	.	UPI00001AE671	SNV	PACRG,synonymous_variant,p.%3D,ENST00000366888,;PACRG,synonymous_variant,p.%3D,ENST00000337019,;PACRG,synonymous_variant,p.%3D,ENST00000366889,;PACRG,3_prime_UTR_variant,,ENST00000541974,;	1046	246	255	SUCCESS
HDGFL1	154150	.	GRCh37	6	22570341	22570341	+	synonymous_variant	Silent	SNP	G	G	A	rs370846969	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	129	0	ENST00000510882.2:c.537G>A	p.Ala179=	p.A179=	ENST00000510882		179	gcG/gcA	0	A:0.0004	A:0	.	A:0.0029	.	A	A	protein_coding	YES	CCDS34347.1	537	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGGAGAG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF19	A:0	A:0.0005	ENSP00000442129	A:0	1/2	.	.	.	.	.	.	.	.	rs370846969	1/2	common_in_exac	ENST00000510882	Transcript	.	A:0.0008	ENSG00000112273	21095	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.002	.	.	HDGL1_HUMAN	HDGFL1	HGNC	.	.	UPI0000039B1A	SNV	HDGFL1,synonymous_variant,p.%3D,ENST00000510882,;HDGFL1,synonymous_variant,p.%3D,ENST00000230012,;	547	129	83	SUCCESS
KIAA0319	9856	.	GRCh37	6	24566957	24566957	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	69	0	ENST00000378214.3:c.2160A>T	p.Arg720Ser	p.R720S	ENST00000378214	NM_014809.3	720	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS34348.1	2160	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCTCTGGG	NONE	.	.	Superfamily_domains:SSF49299,SMART_domains:SM00060,SMART_domains:SM00089,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194	.	.	ENSP00000367459	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000378214	Transcript	.	.	ENSG00000137261	21580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	tolerated(0.14)	.	K0319_HUMAN	KIAA0319	HGNC	.	.	UPI000020D61A	SNV	KIAA0319,missense_variant,p.Arg720Ser,ENST00000543707,;KIAA0319,missense_variant,p.Arg675Ser,ENST00000430948,;KIAA0319,missense_variant,p.Arg720Ser,ENST00000378214,;KIAA0319,missense_variant,p.Arg711Ser,ENST00000535378,;KIAA0319,missense_variant,p.Arg720Ser,ENST00000537886,;	2685	69	66	SUCCESS
KIAA0319	9856	.	GRCh37	6	24578429	24578429	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752726173	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	117	0	ENST00000378214.3:c.1414G>A	p.Glu472Lys	p.E472K	ENST00000378214	NM_014809.3	472	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34348.1	1414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCTTCCC	NONE	.	.	Superfamily_domains:SSF49299,SMART_domains:SM00060,SMART_domains:SM00089,Gene3D:2.60.40.670,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194	.	.	ENSP00000367459	.	9/21	.	.	.	.	.	.	.	.	rs752726173	9/21	PASS	ENST00000378214	Transcript	.	.	ENSG00000137261	21580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0.04)	.	K0319_HUMAN	KIAA0319	HGNC	.	.	UPI000020D61A	SNV	KIAA0319,missense_variant,p.Glu472Lys,ENST00000543707,;KIAA0319,missense_variant,p.Glu427Lys,ENST00000430948,;KIAA0319,missense_variant,p.Glu472Lys,ENST00000378214,;KIAA0319,missense_variant,p.Glu463Lys,ENST00000535378,;KIAA0319,missense_variant,p.Glu472Lys,ENST00000537886,;	1939	118	83	SUCCESS
BTN3A3	10384	.	GRCh37	6	26452498	26452498	+	synonymous_variant	Silent	SNP	G	G	A	rs757126334	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	78	0	ENST00000244519.2:c.1614G>A	p.Pro538=	p.P538=	ENST00000244519	NM_006994.4	538	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4611.1	1614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGGGCTT	NONE	byFrequency	.	.	.	.	ENSP00000244519	.	11/11	.	.	.	.	.	.	.	.	rs757126334	11/11	PASS	ENST00000244519	Transcript	.	.	ENSG00000111801	1140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A3_HUMAN	BTN3A3	HGNC	D0FY33_HUMAN,C9JUV8_HUMAN,C9JQT8_HUMAN,C9JNZ3_HUMAN,C9J877_HUMAN,C9J3Q8_HUMAN	.	UPI00000480EF	SNV	BTN3A3,synonymous_variant,p.%3D,ENST00000361232,;BTN3A3,synonymous_variant,p.%3D,ENST00000244519,;BTN3A3,synonymous_variant,p.%3D,ENST00000339789,;BTN3A3,downstream_gene_variant,,ENST00000490254,;BTN3A3,downstream_gene_variant,,ENST00000487272,;BTN3A3,non_coding_transcript_exon_variant,,ENST00000480110,;BTN3A3,downstream_gene_variant,,ENST00000477388,;BTN3A3,downstream_gene_variant,,ENST00000497681,;BTN3A3,downstream_gene_variant,,ENST00000483179,;	1857	78	60	SUCCESS
OR14J1	442191	.	GRCh37	6	29274701	29274701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	24	141	0	ENST00000377160.2:c.235T>C	p.Ser79Pro	p.S79P	ENST00000377160	NM_030946.1	79	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS34362.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGTCCATT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF42,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366365	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377160	Transcript	.	.	ENSG00000204695	13971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0.01)	.	O14J1_HUMAN	OR14J1	HGNC	.	.	UPI0000041CEC	SNV	OR14J1,missense_variant,p.Ser79Pro,ENST00000377160,;	299	141	140	SUCCESS
NOTCH4	4855	.	GRCh37	6	32182001	32182001	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	21	131	0	ENST00000375023.3:c.2053G>T	p.Gly685Trp	p.G685W	ENST00000375023	NM_004557.3	685	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS34420.1	2053	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCCGTCC	NONE	.	.	hmmpanther:PTHR24033,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,Superfamily_domains:SSF57184	.	.	ENSP00000364163	.	13/30	.	.	.	.	.	.	.	.	COSM3625388	13/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.669)	.	deleterious(0)	1	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Gly685Trp,ENST00000375023,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000465528,;NOTCH4,downstream_gene_variant,,ENST00000473562,;	2192	131	121	SUCCESS
PTCHD4	442213	.	GRCh37	6	47846992	47846992	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758740618	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	61	0	ENST00000339488.4:c.1588T>C	p.Trp530Arg	p.W530R	ENST00000339488	NM_001013732.3	530	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS34473.2	1588	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCAGTACT	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460	.	.	ENSP00000341914	.	3/3	.	.	.	.	.	.	.	.	rs758740618	3/3	PASS	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,missense_variant,p.Trp530Arg,ENST00000339488,;	1622	61	52	SUCCESS
CDYL	9425	.	GRCh37	6	4892565	4892565	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778986943	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	102	1	ENST00000328908.5:c.805G>T	p.Gly269Cys	p.G269C	ENST00000328908		269	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS4491.2	643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGGCCCT	NONE	.	.	hmmpanther:PTHR11941:SF11,hmmpanther:PTHR11941	.	.	ENSP00000380718	.	2/7	.	.	.	.	.	.	.	.	rs778986943	2/7	PASS	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0.03)	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,missense_variant,p.Gly83Cys,ENST00000449732,;CDYL,missense_variant,p.Gly83Cys,ENST00000343762,;CDYL,missense_variant,p.Gly215Cys,ENST00000397588,;CDYL,missense_variant,p.Gly269Cys,ENST00000328908,;CDYL,intron_variant,,ENST00000440139,;CDYL,non_coding_transcript_exon_variant,,ENST00000483019,;CDYL,intron_variant,,ENST00000472453,;CDYL,downstream_gene_variant,,ENST00000491864,;	992	103	77	SUCCESS
COL12A1	1303	.	GRCh37	6	75834089	75834089	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	140	0	ENST00000322507.8:c.6608-2A>G		p.X2203_splice	ENST00000322507	NM_004370.5	2203		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACTACAAA	NONE	.	.	.	.	.	ENSP00000325146	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	HIGH	40/65	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,splice_acceptor_variant,,ENST00000416123,;COL12A1,splice_acceptor_variant,,ENST00000322507,;COL12A1,splice_acceptor_variant,,ENST00000483888,;COL12A1,splice_acceptor_variant,,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000425443,;	.	141	89	SUCCESS
PLXNA4	91584	.	GRCh37	7	132192559	132192559	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	101	0	ENST00000321063.4:c.894T>A	p.Ile298=	p.I298=	ENST00000321063	NM_020911.1	298	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS43646.1	894	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAATGGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000352882	.	2/32	.	.	.	.	.	.	.	.	.	2/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,synonymous_variant,p.%3D,ENST00000321063,;PLXNA4,synonymous_variant,p.%3D,ENST00000423507,;PLXNA4,synonymous_variant,p.%3D,ENST00000359827,;PLXNA4,synonymous_variant,p.%3D,ENST00000378539,;	1857	101	84	SUCCESS
ARHGEF5	7984	.	GRCh37	7	144070342	144070342	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	355	24	411	0	ENST00000056217.5:c.4105A>G	p.Ile1369Val	p.I1369V	ENST00000056217	NM_005435.3	1369	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34771.1	4105	MUTECT|MUSE	.	AACTAATCTAC	NONE	.	.	hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Superfamily_domains:SSF50729,Superfamily_domains:SSF48065	.	.	ENSP00000056217	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000056217	Transcript	.	.	ENSG00000050327	13209	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.562)	.	tolerated(0.06)	.	ARHG5_HUMAN	ARHGEF5	HGNC	H9XFB6_HUMAN	.	UPI00004028DC	SNV	ARHGEF5,missense_variant,p.Ile1369Val,ENST00000056217,;ARHGEF5,missense_variant,p.Ile291Val,ENST00000471847,;ARHGEF5,missense_variant,p.Ile623Val,ENST00000474817,;	4279	411	380	SUCCESS
TMEM176B	28959	.	GRCh37	7	150493641	150493641	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1054061085	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	12	111	0	ENST00000326442.5:c.17T>C	p.Val6Ala	p.V6A	ENST00000326442		6	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS5908.1	17	RADIA|MUTECT|MUSE|VARSCANS	.	CAATCACCGTG	NONE	.	.	hmmpanther:PTHR15756,hmmpanther:PTHR15756:SF6	.	.	ENSP00000410269	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000447204	Transcript	.	.	ENSG00000106565	29596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	T176B_HUMAN	TMEM176B	HGNC	.	.	UPI000013C82B	SNV	TMEM176B,missense_variant,p.Val6Ala,ENST00000447204,;TMEM176B,missense_variant,p.Val6Ala,ENST00000434545,;TMEM176B,missense_variant,p.Val6Ala,ENST00000492607,;TMEM176B,missense_variant,p.Val6Ala,ENST00000429904,;TMEM176B,missense_variant,p.Val6Ala,ENST00000450753,;TMEM176B,missense_variant,p.Val6Ala,ENST00000326442,;TMEM176A,upstream_gene_variant,,ENST00000004103,;TMEM176A,upstream_gene_variant,,ENST00000484928,;TMEM176A,upstream_gene_variant,,ENST00000461345,;TMEM176A,upstream_gene_variant,,ENST00000475710,;TMEM176A,upstream_gene_variant,,ENST00000494349,;	390	111	78	SUCCESS
HOXA6	3203	.	GRCh37	7	27187096	27187096	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	130	0	ENST00000222728.3:c.273G>T	p.Ser91=	p.S91=	ENST00000222728	NM_024014.3	91	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5407.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGAGGG	NONE	.	.	hmmpanther:PTHR24326:SF142,hmmpanther:PTHR24326	.	.	ENSP00000222728	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222728	Transcript	.	.	ENSG00000106006	5107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA6_HUMAN	HOXA6	HGNC	.	.	UPI000012CF32	SNV	HOXA6,synonymous_variant,p.%3D,ENST00000222728,;HOXA5,upstream_gene_variant,,ENST00000222726,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518947,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.23,intron_variant,,ENST00000498652,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA5,upstream_gene_variant,,ENST00000520854,;	298	130	103	SUCCESS
TNRC18	84629	.	GRCh37	7	5355589	5355589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	44	0	ENST00000430969.1:c.6860A>C	p.Gln2287Pro	p.Q2287P	ENST00000430969	NM_001080495.2	2287	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS47534.1	6860	RADIA|MUTECT|MUSE|VARSCANS	.	TACACTGTATC	NONE	.	.	hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.153)	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,missense_variant,p.Gln101Pro,ENST00000328270,;TNRC18,missense_variant,p.Gln2287Pro,ENST00000430969,;TNRC18,missense_variant,p.Gln2287Pro,ENST00000399537,;TNRC18,downstream_gene_variant,,ENST00000464852,;	7209	44	28	SUCCESS
ABCB1	5243	.	GRCh37	7	87179184	87179184	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	107	0	ENST00000265724.3:c.1537A>T	p.Ile513Phe	p.I513F	ENST00000265724	NM_000927.4	513	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS5608.1	1537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATAAAGT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000265724	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Ile513Phe,ENST00000265724,;ABCB1,missense_variant,p.Ile449Phe,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000482527,;	1955	107	75	SUCCESS
CSMD3	114788	.	GRCh37	8	114389050	114389050	+	intron_variant	Intron	SNP	G	G	A	rs568037801	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	7	76	0	ENST00000297405.5:c.178+59856C>T		p.*60*	ENST00000297405	NM_198123.1			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE	.	AGGTTGTTTAT	NONE	by1000G	.	.	C:0	.	ENSP00000297405	C:0	.	.	.	.	.	.	.	.	.	rs568037801	.	PASS	ENST00000297405	Transcript	.	C:0.0002	ENSG00000164796	19291	.	.	MODIFIER	1/70	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.001	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,5_prime_UTR_variant,,ENST00000343508,;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000455883,;CSMD3,intron_variant,,ENST00000297405,;CSMD3,intron_variant,,ENST00000497026,;CSMD3,intron_variant,,ENST00000493303,;RP11-709P2.1,non_coding_transcript_exon_variant,,ENST00000422478,;	.	76	119	SUCCESS
C8orf76	84933	.	GRCh37	8	124253528	124253528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	128	188	0	ENST00000276704.4:c.59G>T	p.Arg20Met	p.R20M	ENST00000276704	NM_032847.2	20	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS6341.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCTCTCC	NONE	.	.	hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1	.	.	ENSP00000276704	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000276704	Transcript	.	.	ENSG00000189376	25924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.668)	.	tolerated(0.15)	.	CH076_HUMAN	C8orf76	HGNC	.	.	UPI000006E851	SNV	C8orf76,missense_variant,p.Arg20Met,ENST00000276704,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;C8orf76,non_coding_transcript_exon_variant,,ENST00000522477,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,upstream_gene_variant,,ENST00000519791,;C8orf76,non_coding_transcript_exon_variant,,ENST00000523726,;C8orf76,upstream_gene_variant,,ENST00000518996,;UBA52P5,downstream_gene_variant,,ENST00000461723,;	111	188	324	SUCCESS
FER1L6	654463	.	GRCh37	8	125076745	125076745	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	267	24	184	0	ENST00000399018.1:c.3486C>G	p.Asp1162Glu	p.D1162E	ENST00000399018		1162	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS43767.1	3486	MUTECT|MUSE	.	CCTGACTCATC	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	26/41	.	.	.	.	.	.	.	.	.	26/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.155)	.	tolerated(1)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Asp1162Glu,ENST00000522917,;FER1L6,missense_variant,p.Asp1162Glu,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;FER1L6-AS2,upstream_gene_variant,,ENST00000601180,;	3692	184	291	SUCCESS
ADCY8	114	.	GRCh37	8	132052123	132052123	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs779029189	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	17	137	0	ENST00000286355.5:c.457A>T	p.Ile153Phe	p.I153F	ENST00000286355	NM_001115.2	153	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS6363.1	457	MUTECT|MUSE|VARSCANS	.	GAAAATGACCC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	1/18	.	.	.	.	.	.	.	.	rs779029189	1/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.734)	.	tolerated(0.65)	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Ile153Phe,ENST00000286355,;ADCY8,missense_variant,p.Ile153Phe,ENST00000377928,;	2550	137	182	SUCCESS
KCNQ3	3786	.	GRCh37	8	133152405	133152405	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	28	0	ENST00000388996.4:c.1486A>G	p.Met496Val	p.M496V	ENST00000388996	NM_004519.3	496	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS34943.1	1486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCATGGGGT	NONE	.	.	Pfam_domain:PF03520	.	.	ENSP00000373648	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,missense_variant,p.Met376Val,ENST00000521134,;KCNQ3,missense_variant,p.Met496Val,ENST00000388996,;KCNQ3,missense_variant,p.Met496Val,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	1907	28	67	SUCCESS
NAPRT1	0	.	GRCh37	8	144660509	144660510	+	5_prime_UTR_variant	5'UTR	INS	-	-	CCGGC	rs201214521	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	32	0	ENST00000449291.2:c.-22_-21insGCCGG		p.*8*	ENST00000449291				0	CCGGC:0.3171	.	.	.	.	CCGGC	.	protein_coding	YES	CCDS6403.2	.	INDELOCATOR|VARSCANI	.	CGGACTCCGCC	NONE	byCluster|by1000G	.	.	.	CCGGC:0.1505	ENSP00000401508	.	1/13	.	.	.	.	.	.	.	.	rs201214521	1/13	PASS	ENST00000449291	Transcript	.	.	ENSG00000147813	30450	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNCB_HUMAN	NAPRT1	HGNC	.	.	UPI000058EC33	insertion	NAPRT1,5_prime_UTR_variant,,ENST00000435154,;NAPRT1,5_prime_UTR_variant,,ENST00000449291,;NAPRT1,5_prime_UTR_variant,,ENST00000426292,;EEF1D,downstream_gene_variant,,ENST00000423316,;EEF1D,downstream_gene_variant,,ENST00000528610,;EEF1D,downstream_gene_variant,,ENST00000530109,;EEF1D,downstream_gene_variant,,ENST00000533749,;EEF1D,downstream_gene_variant,,ENST00000530445,;EEF1D,downstream_gene_variant,,ENST00000533494,;EEF1D,downstream_gene_variant,,ENST00000530191,;EEF1D,downstream_gene_variant,,ENST00000529272,;EEF1D,downstream_gene_variant,,ENST00000534380,;NAPRT1,upstream_gene_variant,,ENST00000276844,;EEF1D,downstream_gene_variant,,ENST00000419152,;EEF1D,downstream_gene_variant,,ENST00000526838,;EEF1D,downstream_gene_variant,,ENST00000532400,;EEF1D,downstream_gene_variant,,ENST00000524624,;EEF1D,downstream_gene_variant,,ENST00000530616,;EEF1D,downstream_gene_variant,,ENST00000531218,;EEF1D,downstream_gene_variant,,ENST00000529576,;EEF1D,downstream_gene_variant,,ENST00000528382,;EEF1D,downstream_gene_variant,,ENST00000532741,;EEF1D,downstream_gene_variant,,ENST00000395119,;NAPRT1,upstream_gene_variant,,ENST00000340490,;EEF1D,downstream_gene_variant,,ENST00000317198,;EEF1D,downstream_gene_variant,,ENST00000529516,;EEF1D,downstream_gene_variant,,ENST00000533204,;EEF1D,downstream_gene_variant,,ENST00000534377,;EEF1D,downstream_gene_variant,,ENST00000531621,;EEF1D,downstream_gene_variant,,ENST00000442189,;RP11-661A12.9,downstream_gene_variant,,ENST00000531730,;RP11-661A12.7,upstream_gene_variant,,ENST00000529247,;NAPRT1,upstream_gene_variant,,ENST00000460623,;NAPRT1,intron_variant,,ENST00000491904,;NAPRT1,upstream_gene_variant,,ENST00000464332,;NAPRT1,upstream_gene_variant,,ENST00000498076,;NAPRT1,upstream_gene_variant,,ENST00000462059,;NAPRT1,upstream_gene_variant,,ENST00000529179,;NAPRT1,upstream_gene_variant,,ENST00000480946,;EEF1D,downstream_gene_variant,,ENST00000526786,;NAPRT1,upstream_gene_variant,,ENST00000532645,;EEF1D,downstream_gene_variant,,ENST00000530848,;EEF1D,downstream_gene_variant,,ENST00000529007,;EEF1D,downstream_gene_variant,,ENST00000527741,;EEF1D,downstream_gene_variant,,ENST00000524397,;EEF1D,downstream_gene_variant,,ENST00000533833,;NAPRT1,upstream_gene_variant,,ENST00000488096,;NAPRT1,upstream_gene_variant,,ENST00000525583,;EEF1D,downstream_gene_variant,,ENST00000534232,;	274-275	32	60	SUCCESS
CSMD1	64478	.	GRCh37	8	2800024	2800024	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	101	0	ENST00000537824.1:c.10505C>A	p.Ser3502Ter	p.S3502*	ENST00000537824	NM_033225.5	3502	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS55189.1	10505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGATAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325	.	.	ENSP00000441462	.	69/70	.	.	.	.	.	.	.	.	COSM1721750,COSM1721749	69/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,stop_gained,p.Ser3326Ter,ENST00000400186,;CSMD1,stop_gained,p.Ser3325Ter,ENST00000542608,;CSMD1,stop_gained,p.Ser3326Ter,ENST00000602723,;CSMD1,stop_gained,p.Ser2905Ter,ENST00000335551,;CSMD1,stop_gained,p.Ser3502Ter,ENST00000537824,;CSMD1,stop_gained,p.Ser3503Ter,ENST00000602557,;CSMD1,stop_gained,p.Ser3503Ter,ENST00000520002,;	10505	101	73	SUCCESS
KCNU1	157855	.	GRCh37	8	36673143	36673143	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	302	10	359	0	ENST00000399881.3:c.933G>A	p.Met311Ile	p.M311I	ENST00000399881	NM_001031836.2	311	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS55220.1	933	MUTECT|MUSE	.	GAAATGGTGGA	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.096)	.	tolerated(1)	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,missense_variant,p.Met311Ile,ENST00000399881,;KCNU1,downstream_gene_variant,,ENST00000523973,;KCNU1,missense_variant,p.Met311Ile,ENST00000522372,;	970	359	312	SUCCESS
KAT6A	7994	.	GRCh37	8	41805294	41805294	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	19	178	0	ENST00000265713.2:c.1877G>T	p.Cys626Phe	p.C626F	ENST00000265713	NM_006766.3	626	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS6124.1	1877	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCAGCCC	NONE	.	.	hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615,Gene3D:3.40.630.30,Pfam_domain:PF01853,Superfamily_domains:SSF55729	.	.	ENSP00000380136	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000396930	Transcript	1	.	ENSG00000083168	13013	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.564)	.	.	.	KAT6A_HUMAN	KAT6A	HGNC	A5PKX7_HUMAN	.	UPI000013D666	SNV	KAT6A,missense_variant,p.Cys626Phe,ENST00000396930,;KAT6A,missense_variant,p.Cys626Phe,ENST00000406337,;KAT6A,missense_variant,p.Cys626Phe,ENST00000485568,;KAT6A,missense_variant,p.Cys626Phe,ENST00000265713,;KAT6A,missense_variant,p.Cys206Phe,ENST00000418721,;	2421	178	145	SUCCESS
PPP1R42	286187	.	GRCh37	8	67929857	67929857	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	77	0	ENST00000324682.5:c.126A>G	p.Ala42=	p.A42=	ENST00000324682	NM_001013626.2	42	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS34902.1	126	MUTECT|MUSE	.	ACAATTGCATC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF227,Gene3D:3.80.10.10,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000315035	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000324682	Transcript	.	.	ENSG00000178125	33732	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR42_HUMAN	PPP1R42	HGNC	.	.	UPI00001B5D21	SNV	PPP1R42,synonymous_variant,p.%3D,ENST00000522909,;PPP1R42,synonymous_variant,p.%3D,ENST00000324682,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000521581,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000523545,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000517834,;PPP1R42,intron_variant,,ENST00000520633,;PPP1R42,upstream_gene_variant,,ENST00000521410,;PPP1R42,upstream_gene_variant,,ENST00000519919,;PPP1R42,upstream_gene_variant,,ENST00000518588,;PPP1R42,upstream_gene_variant,,ENST00000521040,;	271	77	116	SUCCESS
GABBR2	9568	.	GRCh37	9	101056112	101056112	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781760871	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	79	0	ENST00000259455.2:c.2615C>A	p.Ser872Tyr	p.S872Y	ENST00000259455	NM_005458.7	872	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6736.1	2615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGAGAGGGC	BUFFER|p.T869A|c.2605A>G|3	.	.	hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34	.	.	ENSP00000259455	.	18/19	.	.	.	.	.	.	.	.	rs781760871	18/19	PASS	ENST00000259455	Transcript	.	.	ENSG00000136928	4507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious_low_confidence(0)	.	GABR2_HUMAN	GABBR2	HGNC	H9NIL8_HUMAN	.	UPI0000035832	SNV	GABBR2,missense_variant,p.Ser872Tyr,ENST00000259455,;	3075	79	78	SUCCESS
GABBR2	9568	.	GRCh37	9	101470749	101470749	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	58	0	ENST00000259455.2:c.271G>A	p.Glu91Lys	p.E91K	ENST00000259455	NM_005458.7	91	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6736.1	271	RADIA|MUTECT|MUSE|VARSCANS	.	TGACTCGTTGC	NONE	.	.	Prints_domain:PR01178,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34	.	.	ENSP00000259455	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000259455	Transcript	.	.	ENSG00000136928	4507	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.045)	.	tolerated(0.58)	.	GABR2_HUMAN	GABBR2	HGNC	H9NIL8_HUMAN	.	UPI0000035832	SNV	GABBR2,missense_variant,p.Glu91Lys,ENST00000259455,;	731	58	61	SUCCESS
SUSD1	64420	.	GRCh37	9	114840897	114840897	+	synonymous_variant	Silent	SNP	C	C	T	rs762062313	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	39	177	0	ENST00000374270.3:c.1674G>A	p.Pro558=	p.P558=	ENST00000374270	NM_022486.3	558	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6783.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCCGGACG	NONE	.	.	hmmpanther:PTHR24051	.	.	ENSP00000363388	.	12/17	.	.	.	.	.	.	.	.	rs762062313,COSM3769800	12/17	PASS	ENST00000374270	Transcript	.	.	ENSG00000106868	25413	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SUSD1_HUMAN	SUSD1	HGNC	.	.	UPI0000049E0D	SNV	SUSD1,synonymous_variant,p.%3D,ENST00000374263,;SUSD1,synonymous_variant,p.%3D,ENST00000355396,;SUSD1,synonymous_variant,p.%3D,ENST00000374270,;SUSD1,synonymous_variant,p.%3D,ENST00000374264,;SUSD1,downstream_gene_variant,,ENST00000529933,;	1847	177	157	SUCCESS
MPDZ	8777	.	GRCh37	9	13133827	13133827	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	150	0	ENST00000319217.7:c.4460C>T	p.Pro1487Leu	p.P1487L	ENST00000319217	NM_001261406.1	1487	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47951.1	4460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGGAAGC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF10,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000439807	.	32/46	.	.	.	.	.	.	.	.	.	32/46	PASS	ENST00000541718	Transcript	.	.	ENSG00000107186	7208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.11)	.	MPDZ_HUMAN	MPDZ	HGNC	.	.	UPI00015367D3	SNV	MPDZ,missense_variant,p.Pro56Leu,ENST00000438511,;MPDZ,missense_variant,p.Pro1487Leu,ENST00000381022,;MPDZ,missense_variant,p.Pro1454Leu,ENST00000447879,;MPDZ,missense_variant,p.Pro423Leu,ENST00000545857,;MPDZ,missense_variant,p.Pro1487Leu,ENST00000319217,;MPDZ,missense_variant,p.Pro1501Leu,ENST00000546205,;MPDZ,missense_variant,p.Pro1487Leu,ENST00000381015,;MPDZ,missense_variant,p.Pro1454Leu,ENST00000536827,;MPDZ,missense_variant,p.Pro346Leu,ENST00000538841,;MPDZ,missense_variant,p.Pro1487Leu,ENST00000541718,;MPDZ,5_prime_UTR_variant,,ENST00000541093,;MPDZ,downstream_gene_variant,,ENST00000433359,;MPDZ,downstream_gene_variant,,ENST00000540202,;MPDZ,3_prime_UTR_variant,,ENST00000535169,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;	4682	150	119	SUCCESS
FAM205A	259308	.	GRCh37	9	34725939	34725939	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	12	178	0	ENST00000378788.3:c.1298T>A	p.Phe433Tyr	p.F433Y	ENST00000378788	NM_001141917.1	433	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS55305.1	1298	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAATAGC	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4,Pfam_domain:PF14650	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.022)	.	deleterious(0.04)	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,missense_variant,p.Phe433Tyr,ENST00000378788,;	1338	178	120	SUCCESS
GCNT1	2650	.	GRCh37	9	79117570	79117570	+	synonymous_variant	Silent	SNP	C	C	T	rs139014455	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	164	0	ENST00000376730.4:c.273C>T	p.Asp91=	p.D91=	ENST00000376730	NM_001490.4	91	gaC/gaT	0	T:0	.	.	.	.	T	D	protein_coding	YES	CCDS6653.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACGACTA	NONE	byCluster	.	hmmpanther:PTHR19297:SF71,hmmpanther:PTHR19297	.	T:0.0001	ENSP00000415454	.	3/3	.	.	.	.	.	.	.	.	rs139014455	3/3	PASS	ENST00000442371	Transcript	.	.	ENSG00000187210	4203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCNT1_HUMAN	GCNT1	HGNC	.	.	UPI000013CF63	SNV	GCNT1,synonymous_variant,p.%3D,ENST00000536223,;GCNT1,synonymous_variant,p.%3D,ENST00000376730,;GCNT1,synonymous_variant,p.%3D,ENST00000442371,;GCNT1,synonymous_variant,p.%3D,ENST00000444201,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	1212	164	154	SUCCESS
ZNF484	83744	.	GRCh37	9	95609239	95609239	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	110	1	ENST00000375495.3:c.1830C>T	p.Cys610=	p.C610=	ENST00000375495	NM_031486.2	610	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS59136.1	1836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGCATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF144,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000378882	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395506	Transcript	.	.	ENSG00000127081	23385	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN484_HUMAN	ZNF484	HGNC	.	.	UPI00017A7C2E	SNV	ZNF484,synonymous_variant,p.%3D,ENST00000395506,;ZNF484,synonymous_variant,p.%3D,ENST00000395505,;ZNF484,synonymous_variant,p.%3D,ENST00000332591,;ZNF484,synonymous_variant,p.%3D,ENST00000375495,;ANKRD19P,intron_variant,,ENST00000473204,;	1932	111	94	SUCCESS
COL4A6	1288	.	GRCh37	X	107464546	107464546	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	26	184	0	ENST00000372216.4:c.206del	p.Ser69LeufsTer7	p.S69Lfs*7	ENST00000372216	NM_001847.2	69	tCt/tt	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS14541.1	206	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGTAGAGCCA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164,Pfam_domain:PF01391	.	.	ENSP00000361290	.	4/45	.	.	.	.	.	.	.	.	.	4/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	deletion	COL4A6,frameshift_variant,p.Ser68LeufsTer7,ENST00000394872,;COL4A6,frameshift_variant,p.Ser69LeufsTer7,ENST00000372216,;COL4A6,frameshift_variant,p.Ser68LeufsTer7,ENST00000334504,;COL4A6,frameshift_variant,p.Ser68LeufsTer7,ENST00000545689,;COL4A6,frameshift_variant,p.Ser68LeufsTer7,ENST00000538570,;COL4A6,non_coding_transcript_exon_variant,,ENST00000468338,;	307	184	217	SUCCESS
COL4A5	1287	.	GRCh37	X	107824223	107824223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	264	71	410	0	ENST00000361603.2:c.902G>T	p.Gly301Val	p.G301V	ENST00000361603	NM_000495.4	301	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS35366.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGCAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	16/53	.	.	.	.	.	.	.	.	.	16/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Gly301Val,ENST00000328300,;COL4A5,missense_variant,p.Gly301Val,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000483338,;	1146	410	335	SUCCESS
SLC25A43	203427	.	GRCh37	X	118540512	118540512	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	44	193	0	ENST00000217909.7:c.365T>C	p.Ile122Thr	p.I122T	ENST00000217909	NM_145305.2	122	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS14577.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATTGTAA	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF246,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00926	.	.	ENSP00000217909	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000217909	Transcript	.	.	ENSG00000077713	30557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.08)	.	S2543_HUMAN	SLC25A43	HGNC	.	.	UPI00001AE609	SNV	SLC25A43,missense_variant,p.Ile122Thr,ENST00000217909,;SLC25A43,missense_variant,p.Ile122Thr,ENST00000336249,;SLC25A43,non_coding_transcript_exon_variant,,ENST00000488158,;SLC25A43,intron_variant,,ENST00000493093,;SLC25A43,upstream_gene_variant,,ENST00000484058,;	709	193	198	SUCCESS
TENM1	10178	.	GRCh37	X	123785937	123785937	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	33	162	0	ENST00000371130.3:c.1406T>A	p.Val469Asp	p.V469D	ENST00000371130	NM_014253.3	469	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS55488.1	1406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGACCAGC	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	8/32	.	.	.	.	.	.	.	.	.	8/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.26)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Val469Asp,ENST00000422452,;TENM1,missense_variant,p.Val469Asp,ENST00000371130,;	1470	162	139	SUCCESS
MCF2	4168	.	GRCh37	X	138686908	138686908	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	605	153	893	1	ENST00000370576.4:c.1675A>G	p.Ile559Val	p.I559V	ENST00000370576	NM_005369.4	559	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS55517.1	1903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATGCTGT	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF109,PROSITE_profiles:PS50010	.	.	ENSP00000430276	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000519895	Transcript	.	.	ENSG00000101977	6940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.2)	.	MCF2_HUMAN	MCF2	HGNC	.	.	UPI0001C33995	SNV	MCF2,missense_variant,p.Ile559Val,ENST00000370573,;MCF2,missense_variant,p.Ile575Val,ENST00000338585,;MCF2,missense_variant,p.Ile63Val,ENST00000437564,;MCF2,missense_variant,p.Ile520Val,ENST00000536274,;MCF2,missense_variant,p.Ile619Val,ENST00000520602,;MCF2,missense_variant,p.Ile619Val,ENST00000414978,;MCF2,missense_variant,p.Ile559Val,ENST00000370576,;MCF2,missense_variant,p.Ile162Val,ENST00000446225,;MCF2,missense_variant,p.Ile635Val,ENST00000519895,;MCF2,missense_variant,p.Ile704Val,ENST00000370578,;MCF2,downstream_gene_variant,,ENST00000483690,;	2069	894	758	SUCCESS
SLITRK2	84631	.	GRCh37	X	144906211	144906211	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	59	439	1	ENST00000370490.1:c.2268T>C	p.Tyr756=	p.Y756=	ENST00000370490		756	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS14680.1	2268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTATCAAAA	NONE	.	.	hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;TMEM257,upstream_gene_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	6523	440	311	SUCCESS
BMX	660	.	GRCh37	X	15560110	15560110	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	42	255	0	ENST00000342014.6:c.1400T>C	p.Leu467Pro	p.L467P	ENST00000342014	NM_001721.6	467	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS14168.1	1400	RADIA|MUTECT|MUSE|VARSCANS	.	GAAACTCAGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000350224	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000357607	Transcript	.	.	ENSG00000102010	1079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BMX_HUMAN	BMX	HGNC	.	.	UPI0000000DFF	SNV	BMX,missense_variant,p.Leu467Pro,ENST00000348343,;BMX,missense_variant,p.Leu467Pro,ENST00000357607,;BMX,missense_variant,p.Leu467Pro,ENST00000342014,;BMX,downstream_gene_variant,,ENST00000489983,;	1588	255	233	SUCCESS
NR0B1	190	.	GRCh37	X	30327407	30327407	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	109	0	ENST00000378970.4:c.74C>T	p.Ala25Val	p.A25V	ENST00000378970	NM_000475.4	25	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS14223.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGCGCGC	NONE	.	.	Pfam_domain:PF14046,hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF1	.	.	ENSP00000368253	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000378970	Transcript	.	.	ENSG00000169297	7960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.095)	.	tolerated_low_confidence(0.13)	.	NR0B1_HUMAN	NR0B1	HGNC	F1D8P4_HUMAN	.	UPI0000128ED4	SNV	NR0B1,missense_variant,p.Ala25Val,ENST00000453287,;NR0B1,missense_variant,p.Ala25Val,ENST00000378970,;NR0B1,upstream_gene_variant,,ENST00000378963,;	309	109	99	SUCCESS
CXorf22	0	.	GRCh37	X	35944211	35944211	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	381	111	588	2	ENST00000297866.5:c.327T>A	p.Pro109=	p.P109=	ENST00000297866	NM_152632.3	109	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14237.2	327	RADIA|SOMATICSNIPER|VARSCANS	.	CATCCTGATAA	BUFFER|p.E113K|c.337G>A|3,BUFFER|p.E113K|c.337G>A|3	.	.	hmmpanther:PTHR23053	.	.	ENSP00000297866	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000297866	Transcript	.	.	ENSG00000165164	28546	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CX022_HUMAN	CXorf22	HGNC	.	.	UPI000022DD27	SNV	CXorf22,synonymous_variant,p.%3D,ENST00000297866,;CXorf22,synonymous_variant,p.%3D,ENST00000493930,;	393	590	493	SUCCESS
GSPT2	23708	.	GRCh37	X	51487223	51487223	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	39	231	1	ENST00000340438.4:c.501A>G	p.Gly167=	p.G167=	ENST00000340438	NM_018094.4	167	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS14336.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGAGATTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF119	.	.	ENSP00000341247	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340438	Transcript	.	.	ENSG00000189369	4622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERF3B_HUMAN	GSPT2	HGNC	.	.	UPI0000073899	SNV	GSPT2,synonymous_variant,p.%3D,ENST00000340438,;	743	233	168	SUCCESS
TMEM236	653567	.	GRCh37	10	17837970	17837970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	11	0	ENST00000377495.1:c.523G>A	p.Val175Met	p.V175M	ENST00000377495	NM_001098844.2	175	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS41492.1	523	RADIA|VARSCANS	.	AAACTGTGACG	NONE	.	.	hmmpanther:PTHR31453,hmmpanther:PTHR31453:SF1	.	.	ENSP00000366715	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377495	Transcript	.	.	ENSG00000148483	23473	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TM236_HUMAN	TMEM236	HGNC	.	.	UPI000041A684	SNV	TMEM236,missense_variant,p.Val175Met,ENST00000338221,;TMEM236,missense_variant,p.Val175Met,ENST00000377495,;	567	11	16	SUCCESS
RASGEF1A	221002	.	GRCh37	10	43694571	43694571	+	synonymous_variant	Silent	SNP	G	G	A	rs772673426	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	93	0	ENST00000395809.1:c.921C>T	p.Ile307=	p.I307=	ENST00000395809		307	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7202.2	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGATGTT	NONE	byFrequency	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF172,hmmpanther:PTHR23113,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000379154	.	8/13	.	.	.	.	.	.	.	.	rs772673426	8/13	PASS	ENST00000395809	Transcript	.	.	ENSG00000198915	24246	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGF1A_HUMAN	RASGEF1A	HGNC	.	.	UPI00002289AF	SNV	RASGEF1A,synonymous_variant,p.%3D,ENST00000374459,;RASGEF1A,synonymous_variant,p.%3D,ENST00000395810,;RASGEF1A,synonymous_variant,p.%3D,ENST00000374455,;RASGEF1A,synonymous_variant,p.%3D,ENST00000395809,;RASGEF1A,downstream_gene_variant,,ENST00000472864,;	3428	93	68	SUCCESS
PSAP	5660	.	GRCh37	10	73591673	73591673	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1165032545	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	71	0	ENST00000394936.3:c.179C>T	p.Ser60Phe	p.S60F	ENST00000394936		60	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7311.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGATTTC	NONE	.	.	PROSITE_profiles:PS50015,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF36,Gene3D:1.10.225.10,PIRSF_domain:PIRSF002431,Superfamily_domains:SSF47862,Prints_domain:PR01797	.	.	ENSP00000378394	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000394936	Transcript	1	.	ENSG00000197746	9498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	SAP_HUMAN	PSAP	HGNC	.	.	UPI0000000DBF	SNV	PSAP,missense_variant,p.Ser60Phe,ENST00000394934,;PSAP,missense_variant,p.Ser60Phe,ENST00000394936,;	327	71	60	SUCCESS
GRIA4	2893	.	GRCh37	11	105782835	105782835	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	26	0	ENST00000282499.5:c.1269+1564T>C		p.*423*	ENST00000282499	NM_000829.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8333.1	.	MUTECT|MUSE	.	ATCTTTCTCAA	NONE	.	.	.	.	.	ENSP00000282499	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODIFIER	10/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,3_prime_UTR_variant,,ENST00000428631,;GRIA4,3_prime_UTR_variant,,ENST00000393125,;GRIA4,intron_variant,,ENST00000282499,;GRIA4,intron_variant,,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,;GRIA4,intron_variant,,ENST00000525187,;	.	26	36	SUCCESS
TRIM29	23650	.	GRCh37	11	120008061	120008061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767234514	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	31	0	ENST00000341846.5:c.679G>A	p.Val227Met	p.V227M	ENST00000341846	NM_012101.3	227	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS8428.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCACGGGAC	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF240,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000343129	.	1/9	.	.	.	.	.	.	.	.	rs767234514	1/9	PASS	ENST00000341846	Transcript	.	.	ENSG00000137699	17274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.13)	.	TRI29_HUMAN	TRIM29	HGNC	E9PM74_HUMAN,E9PLI4_HUMAN,E9PJ94_HUMAN,E9PIQ2_HUMAN,E9PI31_HUMAN,B7Z5V8_HUMAN	.	UPI0000073FDE	SNV	TRIM29,missense_variant,p.Val227Met,ENST00000341846,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,3_prime_UTR_variant,,ENST00000475051,;	1101	31	55	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123474148	123474148	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	101	0	ENST00000529750.1:c.636G>A	p.Lys212=	p.K212=	ENST00000529750	NM_020716.1	212	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS53720.1	636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGGAGCT	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,synonymous_variant,p.%3D,ENST00000322282,;GRAMD1B,synonymous_variant,p.%3D,ENST00000456860,;GRAMD1B,synonymous_variant,p.%3D,ENST00000534764,;GRAMD1B,synonymous_variant,p.%3D,ENST00000529432,;GRAMD1B,synonymous_variant,p.%3D,ENST00000529750,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;SF3A3P2,upstream_gene_variant,,ENST00000528675,;	963	101	102	SUCCESS
ROBO3	64221	.	GRCh37	11	124747876	124747876	+	synonymous_variant	Silent	SNP	G	G	A	rs1318590034	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	575	151	788	1	ENST00000397801.1:c.3030G>A	p.Thr1010=	p.T1010=	ENST00000397801	NM_022370.3	1010	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS44755.1	3030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACGGCCGC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92	.	.	ENSP00000380903	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000397801	Transcript	.	.	ENSG00000154134	13433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO3_HUMAN	ROBO3	HGNC	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN	.	UPI000035AA82	SNV	ROBO3,synonymous_variant,p.%3D,ENST00000538940,;ROBO3,synonymous_variant,p.%3D,ENST00000397801,;ROBO3,5_prime_UTR_variant,,ENST00000543966,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,intron_variant,,ENST00000531075,;ROBO3,intron_variant,,ENST00000528144,;ROBO3,intron_variant,,ENST00000528820,;ROBO3,intron_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,non_coding_transcript_exon_variant,,ENST00000534598,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,upstream_gene_variant,,ENST00000525304,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,upstream_gene_variant,,ENST00000524971,;	3222	789	726	SUCCESS
CD82	3732	.	GRCh37	11	44639862	44639862	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771739391	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	99	0	ENST00000227155.4:c.589G>A	p.Gly197Ser	p.G197S	ENST00000227155	NM_002231.3	197	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7909.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGGCAAC	NONE	.	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF44,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000227155	.	8/10	.	.	.	.	.	.	.	.	rs771739391	8/10	PASS	ENST00000227155	Transcript	.	.	ENSG00000085117	6210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.86)	.	CD82_HUMAN	CD82	HGNC	E9PP61_HUMAN,E9PJK9_HUMAN,E9PJB7_HUMAN,E9PJ59_HUMAN	.	UPI00001273AE	SNV	CD82,missense_variant,p.Gly15Ser,ENST00000524750,;CD82,missense_variant,p.Gly197Ser,ENST00000227155,;CD82,missense_variant,p.Gly172Ser,ENST00000342935,;CD82,downstream_gene_variant,,ENST00000530601,;CD82,downstream_gene_variant,,ENST00000526958,;CD82,non_coding_transcript_exon_variant,,ENST00000530931,;CD82,non_coding_transcript_exon_variant,,ENST00000529277,;CD82,non_coding_transcript_exon_variant,,ENST00000525898,;	837	99	108	SUCCESS
YAF2	10138	.	GRCh37	12	42555530	42555530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	86	0	ENST00000534854.2:c.190G>A	p.Val64Ile	p.V64I	ENST00000534854	NM_005748.4	64	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS53779.1	262	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAACCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12920:SF2,hmmpanther:PTHR12920	.	.	ENSP00000401859	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000442791	Transcript	.	.	ENSG00000015153	17363	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.651)	.	tolerated(0.11)	.	YAF2_HUMAN	YAF2	HGNC	.	.	UPI00000742C8	SNV	YAF2,missense_variant,p.Val64Ile,ENST00000534854,;YAF2,missense_variant,p.Val55Ile,ENST00000380788,;YAF2,missense_variant,p.Val25Ile,ENST00000548917,;YAF2,missense_variant,p.Val22Ile,ENST00000380790,;YAF2,missense_variant,p.Val88Ile,ENST00000442791,;YAF2,intron_variant,,ENST00000327791,;YAF2,non_coding_transcript_exon_variant,,ENST00000547724,;YAF2,non_coding_transcript_exon_variant,,ENST00000547622,;YAF2,3_prime_UTR_variant,,ENST00000548661,;YAF2,3_prime_UTR_variant,,ENST00000546726,;YAF2,3_prime_UTR_variant,,ENST00000547351,;YAF2,3_prime_UTR_variant,,ENST00000552928,;YAF2,3_prime_UTR_variant,,ENST00000551268,;YAF2,3_prime_UTR_variant,,ENST00000552109,;YAF2,non_coding_transcript_exon_variant,,ENST00000551528,;YAF2,non_coding_transcript_exon_variant,,ENST00000546972,;YAF2,downstream_gene_variant,,ENST00000547254,;YAF2,upstream_gene_variant,,ENST00000550315,;	318	86	87	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48137437	48137437	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	91	0	ENST00000389212.3:c.1701A>T	p.Pro567=	p.P567=	ENST00000389212		567	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS41775.1	1701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCTGGCCG	NONE	.	.	hmmpanther:PTHR23113:SF24,hmmpanther:PTHR23113,Superfamily_domains:SSF54236	.	.	ENSP00000395708	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,synonymous_variant,p.%3D,ENST00000389212,;RAPGEF3,synonymous_variant,p.%3D,ENST00000171000,;RAPGEF3,synonymous_variant,p.%3D,ENST00000549151,;RAPGEF3,synonymous_variant,p.%3D,ENST00000449771,;RAPGEF3,synonymous_variant,p.%3D,ENST00000405493,;RAPGEF3,intron_variant,,ENST00000548919,;RAPGEF3,downstream_gene_variant,,ENST00000395358,;RP1-197B17.3,downstream_gene_variant,,ENST00000547799,;RAPGEF3,3_prime_UTR_variant,,ENST00000547856,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000395360,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,downstream_gene_variant,,ENST00000494764,;RAPGEF3,upstream_gene_variant,,ENST00000548434,;RAPGEF3,upstream_gene_variant,,ENST00000473777,;RAPGEF3,upstream_gene_variant,,ENST00000490387,;RAPGEF3,upstream_gene_variant,,ENST00000488250,;RAPGEF3,upstream_gene_variant,,ENST00000476259,;RAPGEF3,downstream_gene_variant,,ENST00000495465,;	1790	91	78	SUCCESS
MMP19	4327	.	GRCh37	12	56234593	56234593	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	12	83	0	ENST00000322569.4:c.378G>A	p.Arg126=	p.R126=	ENST00000322569	NM_002429.5	126	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8895.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCGGGC	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	.	ENSP00000313437	.	4/9	.	.	.	.	.	.	.	.	COSM1512653	4/9	PASS	ENST00000322569	Transcript	.	.	ENSG00000123342	7165	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MMP19_HUMAN	MMP19	HGNC	.	.	UPI0000030AE6	SNV	MMP19,synonymous_variant,p.%3D,ENST00000548629,;MMP19,synonymous_variant,p.%3D,ENST00000409200,;MMP19,synonymous_variant,p.%3D,ENST00000322569,;MMP19,upstream_gene_variant,,ENST00000394182,;TMEM198B,downstream_gene_variant,,ENST00000487582,;TMEM198B,downstream_gene_variant,,ENST00000508246,;MMP19,downstream_gene_variant,,ENST00000547487,;TMEM198B,downstream_gene_variant,,ENST00000482378,;MMP19,downstream_gene_variant,,ENST00000547299,;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000471276,;MMP19,missense_variant,p.Gly83Ser,ENST00000552763,;MMP19,3_prime_UTR_variant,,ENST00000552872,;MMP19,intron_variant,,ENST00000548882,;MMP19,upstream_gene_variant,,ENST00000547685,;	470	83	78	SUCCESS
FGD6	55785	.	GRCh37	12	95478307	95478307	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	70	0	ENST00000343958.4:c.4223T>G	p.Val1408Gly	p.V1408G	ENST00000343958	NM_018351.3	1408	gTa/gGa	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS31878.1	4223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATACATAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000344446	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	deleterious(0)	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,missense_variant,p.Val1408Gly,ENST00000343958,;FGD6,intron_variant,,ENST00000548069,;FGD6,downstream_gene_variant,,ENST00000546711,;FGD6,3_prime_UTR_variant,,ENST00000451107,;	4447	70	68	SUCCESS
FGD6	55785	.	GRCh37	12	95478356	95478356	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	71	0	ENST00000343958.4:c.4174T>G	p.Ser1392Ala	p.S1392A	ENST00000343958	NM_018351.3	1392	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS31878.1	4174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGAATTCT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000344446	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.24)	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,missense_variant,p.Ser1392Ala,ENST00000343958,;FGD6,intron_variant,,ENST00000548069,;FGD6,downstream_gene_variant,,ENST00000546711,;FGD6,3_prime_UTR_variant,,ENST00000451107,;	4398	71	79	SUCCESS
MTUS2	23281	.	GRCh37	13	29933428	29933428	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs752848300	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	37	170	0	ENST00000431530.3:c.2965C>T	p.Arg989Ter	p.R989*	ENST00000431530	NM_001033602.2	989	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS45022.1	2965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCGAAAT	NONE	byFrequency	.	hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	.	.	ENSP00000392057	.	6/14	.	.	.	.	.	.	.	.	rs752848300,COSM946571	6/14	PASS	ENST00000431530	Transcript	.	.	ENSG00000132938	20595	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	.	MTUS2	HGNC	J3KQA9_HUMAN,B4DWQ4_HUMAN	.	UPI0000F734AC	SNV	MTUS2,stop_gained,p.Arg989Ter,ENST00000431530,;	3023	170	159	SUCCESS
NBEA	26960	.	GRCh37	13	35883725	35883725	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	33	197	0	ENST00000400445.3:c.5899G>T	p.Gly1967Ter	p.G1967*	ENST00000400445	NM_015678.4	1967	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS45026.1	5899	RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAGGAAGG	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Pfam_domain:PF06469	.	.	ENSP00000383295	.	36/58	.	.	.	.	.	.	.	.	.	36/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,stop_gained,p.Gly1967Ter,ENST00000400445,;NBEA,stop_gained,p.Gly1967Ter,ENST00000540320,;NBEA,stop_gained,p.Gly1967Ter,ENST00000310336,;NBEA,stop_gained,p.Gly1964Ter,ENST00000379939,;	6433	197	196	SUCCESS
NBEA	26960	.	GRCh37	13	35883726	35883726	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	32	195	0	ENST00000400445.3:c.5900G>T	p.Gly1967Val	p.G1967V	ENST00000400445	NM_015678.4	1967	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS45026.1	5900	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAAGGT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Pfam_domain:PF06469	.	.	ENSP00000383295	.	36/58	.	.	.	.	.	.	.	.	COSM3468544	36/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Gly1967Val,ENST00000400445,;NBEA,missense_variant,p.Gly1967Val,ENST00000540320,;NBEA,missense_variant,p.Gly1967Val,ENST00000310336,;NBEA,missense_variant,p.Gly1964Val,ENST00000379939,;	6434	195	195	SUCCESS
PCDH9	5101	.	GRCh37	13	66879012	66879012	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	136	0	ENST00000377865.2:c.3489C>A	p.Pro1163=	p.P1163=	ENST00000377865		1163	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9444.1	3489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGGTGC	NONE	.	.	hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027	.	.	ENSP00000442186	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,synonymous_variant,p.%3D,ENST00000328454,;PCDH9,synonymous_variant,p.%3D,ENST00000544246,;PCDH9,synonymous_variant,p.%3D,ENST00000377865,;PCDH9,synonymous_variant,p.%3D,ENST00000456367,;PCDH9-AS1,intron_variant,,ENST00000430861,;	4181	137	97	SUCCESS
TPPP2	122664	.	GRCh37	14	21498863	21498863	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	90	0	ENST00000321760.6:c.123T>A	p.Asp41Glu	p.D41E	ENST00000321760	NM_173846.4	41	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9566.1	123	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATGGCAA	NONE	.	.	hmmpanther:PTHR12932,hmmpanther:PTHR12932:SF19,Pfam_domain:PF05517,Superfamily_domains:SSF47473	.	.	ENSP00000317595	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000321760	Transcript	.	.	ENSG00000179636	19293	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	TPPP2_HUMAN	TPPP2	HGNC	.	.	UPI0000161004	SNV	TPPP2,missense_variant,p.Asp41Glu,ENST00000530140,;TPPP2,missense_variant,p.Asp41Glu,ENST00000321760,;TPPP2,missense_variant,p.Asp41Glu,ENST00000472458,;TPPP2,missense_variant,p.Asp41Glu,ENST00000460647,;TPPP2,missense_variant,p.Asp36Glu,ENST00000481535,;NDRG2,intron_variant,,ENST00000555026,;NDRG2,intron_variant,,ENST00000403829,;NDRG2,upstream_gene_variant,,ENST00000298687,;RNASE13,downstream_gene_variant,,ENST00000382951,;NDRG2,upstream_gene_variant,,ENST00000350792,;NDRG2,upstream_gene_variant,,ENST00000397858,;NDRG2,upstream_gene_variant,,ENST00000397847,;RP11-998D10.1,upstream_gene_variant,,ENST00000531638,;TPPP2,upstream_gene_variant,,ENST00000555751,;NDRG2,upstream_gene_variant,,ENST00000554419,;NDRG2,upstream_gene_variant,,ENST00000556974,;NDRG2,upstream_gene_variant,,ENST00000360463,;AL161668.5,downstream_gene_variant,,ENST00000532213,;AL161668.5,downstream_gene_variant,,ENST00000533984,;TPPP2,missense_variant,p.Asp33Glu,ENST00000495665,;TPPP2,non_coding_transcript_exon_variant,,ENST00000533755,;TPPP2,non_coding_transcript_exon_variant,,ENST00000532060,;TPPP2,non_coding_transcript_exon_variant,,ENST00000534434,;TPPP2,non_coding_transcript_exon_variant,,ENST00000529496,;TPPP2,non_coding_transcript_exon_variant,,ENST00000525425,;NDRG2,upstream_gene_variant,,ENST00000557669,;	271	90	91	SUCCESS
AKAP6	9472	.	GRCh37	14	33290961	33290961	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1344566091	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	71	0	ENST00000280979.4:c.3942G>T	p.Met1314Ile	p.M1314I	ENST00000280979	NM_004274.4	1314	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS9644.1	3942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGACACA	NONE	.	.	hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	.	.	ENSP00000280979	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.33)	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,missense_variant,p.Met1314Ile,ENST00000280979,;AKAP6,intron_variant,,ENST00000557272,;	4112	71	61	SUCCESS
PDE8A	5151	.	GRCh37	15	85634389	85634389	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	24	153	0	ENST00000310298.4:c.829A>T	p.Asn277Tyr	p.N277Y	ENST00000310298		277	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS10336.1	829	RADIA|MUTECT|MUSE|VARSCANS	.	CTATAAATTCA	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Pfam_domain:PF00989,TIGRFAM_domain:TIGR00229,Gene3D:3.30.450.20,Superfamily_domains:SSF55785	.	.	ENSP00000311453	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	tolerated(0.07)	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,missense_variant,p.Asn277Tyr,ENST00000394553,;PDE8A,missense_variant,p.Asn277Tyr,ENST00000310298,;PDE8A,missense_variant,p.Asn205Tyr,ENST00000557957,;PDE8A,intron_variant,,ENST00000339708,;PDE8A,intron_variant,,ENST00000557819,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,intron_variant,,ENST00000559086,;PDE8A,intron_variant,,ENST00000560789,;PDE8A,intron_variant,,ENST00000559742,;	1081	153	142	SUCCESS
KIF7	374654	.	GRCh37	15	90176120	90176121	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	27	0	ENST00000394412.3:c.2825dup	p.Leu943ProfsTer105	p.L943Pfs*105	ENST00000394412	NM_198525.2	942	atc/atTc	0	.	.	.	.	.	A	I/IX	protein_coding	YES	CCDS32325.2	2825-2826	VARSCANI*|PINDEL	.	GCCAGGATGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF342,hmmpanther:PTHR24115	.	.	ENSP00000377934	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000394412	Transcript	1	.	ENSG00000166813	30497	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF7_HUMAN	KIF7	HGNC	B7ZKY4_HUMAN	.	UPI00015F81C7	insertion	KIF7,frameshift_variant,p.Leu943ProfsTer105,ENST00000394412,;TICRR,downstream_gene_variant,,ENST00000560985,;TICRR,downstream_gene_variant,,ENST00000268138,;KIF7,upstream_gene_variant,,ENST00000558928,;TICRR,downstream_gene_variant,,ENST00000561095,;	2902-2903	27	28	SUCCESS
SLCO3A1	28232	.	GRCh37	15	92459637	92459637	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	84	0	ENST00000318445.6:c.595G>A	p.Val199Ile	p.V199I	ENST00000318445	NM_013272.3	199	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10371.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGTCTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000320634	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000318445	Transcript	.	.	ENSG00000176463	10952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	tolerated(0.19)	.	SO3A1_HUMAN	SLCO3A1	HGNC	.	.	UPI00001AF1F7	SNV	SLCO3A1,missense_variant,p.Val199Ile,ENST00000318445,;SLCO3A1,missense_variant,p.Val199Ile,ENST00000424469,;SLCO3A1,downstream_gene_variant,,ENST00000553304,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	809	84	73	SUCCESS
SLC5A11	115584	.	GRCh37	16	24886979	24886979	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768485681	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	64	0	ENST00000347898.3:c.404G>A	p.Arg135His	p.R135H	ENST00000347898	NM_052944.3	135	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10625.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGCTTCG	NONE	byFrequency	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF127,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000289932	.	6/16	.	.	.	.	.	.	.	.	rs768485681	6/16	PASS	ENST00000347898	Transcript	.	.	ENSG00000158865	23091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SC5AB_HUMAN	SLC5A11	HGNC	H3BN85_HUMAN	.	UPI0000036161	SNV	SLC5A11,missense_variant,p.Arg71His,ENST00000539472,;SLC5A11,missense_variant,p.Arg71His,ENST00000565769,;SLC5A11,missense_variant,p.Arg71His,ENST00000569071,;SLC5A11,missense_variant,p.Arg71His,ENST00000449109,;SLC5A11,missense_variant,p.Arg135His,ENST00000347898,;SLC5A11,intron_variant,,ENST00000568579,;SLC5A11,intron_variant,,ENST00000545376,;SLC5A11,intron_variant,,ENST00000424767,;SLC5A11,intron_variant,,ENST00000567758,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;SLC5A11,upstream_gene_variant,,ENST00000565586,;	1026	64	64	SUCCESS
HEATR3	55027	.	GRCh37	16	50117925	50117925	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	76	0	ENST00000299192.7:c.1119G>A	p.Met373Ile	p.M373I	ENST00000299192	NM_182922.2	373	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10739.1	1119	MUTECT|MUSE	.	AACATGTGCTG	NONE	.	.	hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347	.	.	ENSP00000299192	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.05)	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,missense_variant,p.Met373Ile,ENST00000299192,;HEATR3,missense_variant,p.Met287Ile,ENST00000285767,;HEATR3,non_coding_transcript_exon_variant,,ENST00000564942,;HEATR3,non_coding_transcript_exon_variant,,ENST00000561525,;	1310	76	63	SUCCESS
GPR56	0	.	GRCh37	16	57689423	57689423	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	36	0	ENST00000567835.1:c.881G>T	p.Ser294Ile	p.S294I	ENST00000567835		294	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS32460.1	881	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGCAGCC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF45	.	.	ENSP00000373464	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000388812	Transcript	.	.	ENSG00000205336	4512	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.706)	.	deleterious(0.01)	.	GPR56_HUMAN	GPR56	HGNC	H3BVE9_HUMAN,H3BVD3_HUMAN,H3BV72_HUMAN,H3BV52_HUMAN,H3BUH2_HUMAN,H3BTK9_HUMAN,H3BTH7_HUMAN,H3BTD2_HUMAN,H3BT88_HUMAN,H3BSR1_HUMAN,H3BSN7_HUMAN,H3BSN3_HUMAN,H3BSB8_HUMAN,H3BS94_HUMAN,H3BS14_HUMAN,H3BRZ4_HUMAN,H3BRI7_HUMAN,H3BRH0_HUMAN,H3BRB4_HUMAN,H3BRA1_HUMAN,H3BQZ1_HUMAN,H3BQW4_HUMAN,H3BQ46_HUMAN,H3BNN3_HUMAN,H3BMF8_HUMAN	.	UPI0000047817	SNV	GPR56,missense_variant,p.Ser294Ile,ENST00000568909,;GPR56,missense_variant,p.Ser294Ile,ENST00000540164,;GPR56,missense_variant,p.Ser294Ile,ENST00000562631,;GPR56,missense_variant,p.Ser294Ile,ENST00000456916,;GPR56,missense_variant,p.Ser294Ile,ENST00000379696,;GPR56,missense_variant,p.Ser294Ile,ENST00000538815,;GPR56,missense_variant,p.Ser294Ile,ENST00000388812,;GPR56,missense_variant,p.Ser294Ile,ENST00000388813,;GPR56,missense_variant,p.Ser123Ile,ENST00000565391,;GPR56,missense_variant,p.Ser294Ile,ENST00000562558,;GPR56,missense_variant,p.Ser294Ile,ENST00000568908,;GPR56,missense_variant,p.Ser119Ile,ENST00000544297,;GPR56,missense_variant,p.Ser124Ile,ENST00000379694,;GPR56,missense_variant,p.Ser294Ile,ENST00000567835,;GPR56,downstream_gene_variant,,ENST00000568234,;GPR56,downstream_gene_variant,,ENST00000567154,;GPR56,downstream_gene_variant,,ENST00000566271,;GPR56,downstream_gene_variant,,ENST00000566508,;GPR56,downstream_gene_variant,,ENST00000565770,;GPR56,downstream_gene_variant,,ENST00000561988,;GPR56,downstream_gene_variant,,ENST00000568979,;GPR56,downstream_gene_variant,,ENST00000564722,;GPR56,downstream_gene_variant,,ENST00000564360,;GPR56,downstream_gene_variant,,ENST00000564103,;GPR56,downstream_gene_variant,,ENST00000566778,;GPR56,downstream_gene_variant,,ENST00000563414,;GPR56,downstream_gene_variant,,ENST00000565976,;GPR56,downstream_gene_variant,,ENST00000568791,;GPR56,downstream_gene_variant,,ENST00000568074,;GPR56,downstream_gene_variant,,ENST00000566164,;GPR56,downstream_gene_variant,,ENST00000561969,;GPR56,downstream_gene_variant,,ENST00000569101,;GPR56,downstream_gene_variant,,ENST00000569158,;GPR56,downstream_gene_variant,,ENST00000563445,;GPR56,downstream_gene_variant,,ENST00000569531,;GPR56,downstream_gene_variant,,ENST00000569494,;GPR56,downstream_gene_variant,,ENST00000564338,;GPR56,downstream_gene_variant,,ENST00000567397,;GPR56,downstream_gene_variant,,ENST00000565587,;GPR56,downstream_gene_variant,,ENST00000567702,;GPR56,downstream_gene_variant,,ENST00000568157,;GPR56,downstream_gene_variant,,ENST00000561782,;GPR56,downstream_gene_variant,,ENST00000568618,;GPR56,downstream_gene_variant,,ENST00000563862,;GPR56,downstream_gene_variant,,ENST00000565338,;GPR56,downstream_gene_variant,,ENST00000563374,;GPR56,downstream_gene_variant,,ENST00000562414,;GPR56,downstream_gene_variant,,ENST00000564729,;GPR56,downstream_gene_variant,,ENST00000566187,;GPR56,downstream_gene_variant,,ENST00000565314,;GPR56,downstream_gene_variant,,ENST00000563548,;GPR56,downstream_gene_variant,,ENST00000562467,;GPR56,downstream_gene_variant,,ENST00000566123,;GPR56,downstream_gene_variant,,ENST00000568531,;GPR56,downstream_gene_variant,,ENST00000569154,;GPR56,downstream_gene_variant,,ENST00000565013,;GPR56,downstream_gene_variant,,ENST00000567915,;GPR56,downstream_gene_variant,,ENST00000570044,;GPR56,downstream_gene_variant,,ENST00000562682,;GPR56,downstream_gene_variant,,ENST00000561833,;GPR56,downstream_gene_variant,,ENST00000569372,;GPR56,downstream_gene_variant,,ENST00000567553,;GPR56,downstream_gene_variant,,ENST00000561696,;GPR56,downstream_gene_variant,,ENST00000566169,;GPR56,downstream_gene_variant,,ENST00000562003,;GPR56,downstream_gene_variant,,ENST00000561872,;GPR56,downstream_gene_variant,,ENST00000564912,;GPR56,downstream_gene_variant,,ENST00000569132,;GPR56,downstream_gene_variant,,ENST00000566888,;GPR56,downstream_gene_variant,,ENST00000562608,;GPR56,downstream_gene_variant,,ENST00000569992,;GPR56,downstream_gene_variant,,ENST00000562101,;GPR56,downstream_gene_variant,,ENST00000562673,;GPR56,downstream_gene_variant,,ENST00000568700,;GPR56,3_prime_UTR_variant,,ENST00000565539,;GPR56,3_prime_UTR_variant,,ENST00000564907,;GPR56,downstream_gene_variant,,ENST00000565505,;GPR56,downstream_gene_variant,,ENST00000568645,;GPR56,downstream_gene_variant,,ENST00000563007,;	1321	36	39	SUCCESS
DYNC1LI2	1783	.	GRCh37	16	66785466	66785466	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	80	0	ENST00000258198.2:c.29T>A	p.Leu10Gln	p.L10Q	ENST00000258198	NM_006141.2	10	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS10818.1	29	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGCTTC	NONE	.	.	hmmpanther:PTHR12688,hmmpanther:PTHR12688:SF1	.	.	ENSP00000258198	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000258198	Transcript	.	.	ENSG00000135720	2966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.348)	.	deleterious_low_confidence(0.05)	.	DC1L2_HUMAN	DYNC1LI2	HGNC	.	.	UPI0000129A0D	SNV	DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000258198,;DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000566150,;DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000379482,;DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000443351,;DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000440564,;CCDC79,downstream_gene_variant,,ENST00000433574,;CCDC79,downstream_gene_variant,,ENST00000432602,;CCDC79,downstream_gene_variant,,ENST00000415744,;CCDC79,downstream_gene_variant,,ENST00000558713,;CCDC79,downstream_gene_variant,,ENST00000433154,;RP11-61A14.4,upstream_gene_variant,,ENST00000501143,;DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000568180,;DYNC1LI2,missense_variant,p.Leu10Gln,ENST00000564090,;	236	80	53	SUCCESS
RFWD3	55159	.	GRCh37	16	74678544	74678544	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	107	0	ENST00000361070.4:c.882G>A	p.Trp294Ter	p.W294*	ENST00000361070	NM_018124.3	294	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS32486.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTCCACTG	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Gene3D:3.30.40.10,Pfam_domain:PF13639,hmmpanther:PTHR16047:SF7,hmmpanther:PTHR16047,PROSITE_profiles:PS50089	.	.	ENSP00000354361	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000361070	Transcript	.	.	ENSG00000168411	25539	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFWD3_HUMAN	RFWD3	HGNC	I3L4I5_HUMAN,I3L2T2_HUMAN,I3L299_HUMAN,I3L284_HUMAN	.	UPI0000366B66	SNV	RFWD3,stop_gained,p.Trp16Ter,ENST00000572337,;RFWD3,stop_gained,p.Trp294Ter,ENST00000361070,;RFWD3,stop_gained,p.Trp294Ter,ENST00000571750,;RFWD3,non_coding_transcript_exon_variant,,ENST00000575281,;RFWD3,upstream_gene_variant,,ENST00000572610,;	980	107	94	SUCCESS
MVD	4597	.	GRCh37	16	88722115	88722115	+	synonymous_variant	Silent	SNP	T	T	A	rs1389198883	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	51	0	ENST00000301012.3:c.627A>T	p.Thr209=	p.T209=	ENST00000301012	NM_002461.1	209	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10968.1	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGTCAG	NONE	.	.	hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2,TIGRFAM_domain:TIGR01240,Gene3D:3.30.70.890,PIRSF_domain:PIRSF015950,Superfamily_domains:SSF55060	.	.	ENSP00000301012	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000301012	Transcript	.	.	ENSG00000167508	7529	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MVD1_HUMAN	MVD	HGNC	.	.	UPI000012A0C6	SNV	MVD,synonymous_variant,p.%3D,ENST00000569177,;MVD,synonymous_variant,p.%3D,ENST00000301012,;CYBA,upstream_gene_variant,,ENST00000567174,;CYBA,upstream_gene_variant,,ENST00000261623,;CYBA,upstream_gene_variant,,ENST00000568278,;CYBA,upstream_gene_variant,,ENST00000569359,;MVD,downstream_gene_variant,,ENST00000565720,;MVD,downstream_gene_variant,,ENST00000568709,;MVD,downstream_gene_variant,,ENST00000563463,;CYBA,upstream_gene_variant,,ENST00000561972,;MVD,3_prime_UTR_variant,,ENST00000568133,;MVD,3_prime_UTR_variant,,ENST00000567064,;MVD,non_coding_transcript_exon_variant,,ENST00000565149,;CYBA,upstream_gene_variant,,ENST00000563526,;MVD,downstream_gene_variant,,ENST00000565610,;MVD,upstream_gene_variant,,ENST00000561895,;MVD,downstream_gene_variant,,ENST00000563785,;MVD,downstream_gene_variant,,ENST00000563170,;MVD,downstream_gene_variant,,ENST00000562651,;MVD,downstream_gene_variant,,ENST00000566636,;CYBA,upstream_gene_variant,,ENST00000562209,;MVD,upstream_gene_variant,,ENST00000562981,;CYBA,upstream_gene_variant,,ENST00000566534,;	657	51	47	SUCCESS
TMEM132E	124842	.	GRCh37	17	32955722	32955722	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1389721678	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	45	0	ENST00000321639.5:c.869C>T	p.Pro290Leu	p.P290L	ENST00000321639	NM_207313.1	290	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11283.1	869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCCCCCA	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.29)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Pro290Leu,ENST00000321639,;	1197	45	35	SUCCESS
CNP	1267	.	GRCh37	17	40120710	40120710	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	24	130	0	ENST00000393892.3:c.628C>G	p.Leu210Val	p.L210V	ENST00000393892	NM_033133.4	210	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11414.2	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCTGGAA	NONE	.	.	hmmpanther:PTHR10156:SF0,hmmpanther:PTHR10156,Pfam_domain:PF05881,PIRSF_domain:PIRSF000970,Superfamily_domains:SSF55144	.	.	ENSP00000377470	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000393892	Transcript	.	.	ENSG00000173786	2158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.683)	.	deleterious(0)	.	CN37_HUMAN	CNP	HGNC	K7ERZ0_HUMAN,K7EN66_HUMAN,C9K0L8_HUMAN,B4DFN6_HUMAN	.	UPI0000127BEE	SNV	CNP,missense_variant,p.Leu190Val,ENST00000393888,;CNP,missense_variant,p.Leu210Val,ENST00000393892,;CNP,intron_variant,,ENST00000472031,;CNP,intron_variant,,ENST00000591072,;CNP,downstream_gene_variant,,ENST00000587679,;CNP,downstream_gene_variant,,ENST00000589772,;CNP,downstream_gene_variant,,ENST00000585452,;CNP,downstream_gene_variant,,ENST00000441615,;CNP,downstream_gene_variant,,ENST00000592446,;CNP,upstream_gene_variant,,ENST00000592105,;CNP,downstream_gene_variant,,ENST00000591945,;TTC25,downstream_gene_variant,,ENST00000591658,;TTC25,downstream_gene_variant,,ENST00000377540,;CNP,upstream_gene_variant,,ENST00000486438,;CNP,upstream_gene_variant,,ENST00000592861,;	772	130	107	SUCCESS
SPAG9	9043	.	GRCh37	17	49157040	49157040	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	74	1	ENST00000262013.7:c.329A>C	p.Gln110Pro	p.Q110P	ENST00000262013	NM_001130528.2	110	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS45740.1	329	SOMATICSNIPER|MUTECT|VARSCANS	.	GTTCTTGAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09744,hmmpanther:PTHR13886	.	.	ENSP00000262013	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000262013	Transcript	.	.	ENSG00000008294	14524	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.828)	.	tolerated(0.28)	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	SNV	SPAG9,missense_variant,p.Gln110Pro,ENST00000505279,;SPAG9,missense_variant,p.Gln110Pro,ENST00000357122,;SPAG9,missense_variant,p.Gln110Pro,ENST00000262013,;RP11-481C4.1,intron_variant,,ENST00000509833,;SPAG9,upstream_gene_variant,,ENST00000514613,;	538	75	63	SUCCESS
DLG4	1742	.	GRCh37	17	7106632	7106632	+	synonymous_variant	Silent	SNP	G	G	A	rs746539810	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	42	0	ENST00000399506.2:c.522C>T	p.Ile174=	p.I174=	ENST00000399506		174	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS45599.1	651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGATGCT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23119:SF4,hmmpanther:PTHR23119,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50156	.	.	ENSP00000382428	.	9/22	.	.	.	.	.	.	.	.	rs746539810	9/22	PASS	ENST00000399510	Transcript	.	.	ENSG00000132535	2903	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLG4_HUMAN	DLG4	HGNC	Q3ZCU5_HUMAN,K7EKU8_HUMAN,K7EKP9_HUMAN,B9EGL1_HUMAN,B7Z647_HUMAN	.	UPI0000048D63	SNV	DLG4,synonymous_variant,p.%3D,ENST00000447163,;DLG4,synonymous_variant,p.%3D,ENST00000399506,;DLG4,synonymous_variant,p.%3D,ENST00000302955,;DLG4,synonymous_variant,p.%3D,ENST00000485100,;DLG4,synonymous_variant,p.%3D,ENST00000399510,;DLG4,synonymous_variant,p.%3D,ENST00000486626,;DLG4,synonymous_variant,p.%3D,ENST00000451807,;DLG4,downstream_gene_variant,,ENST00000493294,;	1504	42	51	SUCCESS
CC2D1A	54862	.	GRCh37	19	14020667	14020667	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	94	0	ENST00000318003.7:c.92G>C	p.Gly31Ala	p.G31A	ENST00000318003	NM_017721.4	31	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS42512.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCCTGA	NONE	.	.	hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7	.	.	ENSP00000313601	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000318003	Transcript	1	.	ENSG00000132024	30237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	tolerated(0.16)	.	C2D1A_HUMAN	CC2D1A	HGNC	.	.	UPI0000203524	SNV	CC2D1A,missense_variant,p.Gly31Ala,ENST00000589606,;CC2D1A,missense_variant,p.Gly31Ala,ENST00000318003,;C19orf57,upstream_gene_variant,,ENST00000585755,;C19orf57,upstream_gene_variant,,ENST00000586783,;C19orf57,upstream_gene_variant,,ENST00000454313,;C19orf57,upstream_gene_variant,,ENST00000591586,;C19orf57,upstream_gene_variant,,ENST00000346736,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000585896,;CC2D1A,upstream_gene_variant,,ENST00000586955,;	333	94	91	SUCCESS
DAZAP1	26528	.	GRCh37	19	1432588	1432588	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	28	165	0	ENST00000233078.4:c.947C>T	p.Pro316Leu	p.P316L	ENST00000233078	NM_018959.2	316	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12065.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCCCGGGG	BUFFER|p.P312P|c.936A>C|3,BUFFER|p.P312P|c.936A>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF259	.	.	ENSP00000233078	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000233078	Transcript	.	.	ENSG00000071626	2683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	DAZP1_HUMAN	DAZAP1	HGNC	Q5IRM7_HUMAN,B3KS63_HUMAN	.	UPI00000728D6	SNV	DAZAP1,missense_variant,p.Pro316Leu,ENST00000233078,;DAZAP1,missense_variant,p.Pro316Leu,ENST00000336761,;DAZAP1,missense_variant,p.Pro116Leu,ENST00000587079,;DAZAP1,upstream_gene_variant,,ENST00000591999,;DAZAP1,downstream_gene_variant,,ENST00000592453,;DAZAP1,downstream_gene_variant,,ENST00000586579,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000585485,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589874,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589484,;	1108	165	151	SUCCESS
FCHO1	23149	.	GRCh37	19	17886852	17886852	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199761608	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	34	0	ENST00000252771.7:c.1064G>A	p.Arg355His	p.R355H	ENST00000252771		355	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS59365.1	1064	MUTECT|MUSE	.	GCCCCGCAAGT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23065:SF6,hmmpanther:PTHR23065	A:0	.	ENSP00000473001	A:0.001	16/29	.	.	.	.	.	.	.	.	rs199761608,COSM992896	16/29	common_in_exac	ENST00000594202	Transcript	.	A:0.0002	ENSG00000130475	29002	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.972)	A:0	deleterious(0.03)	0,1	FCHO1_HUMAN	FCHO1	HGNC	M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN	.	UPI000059D6B0	SNV	FCHO1,missense_variant,p.Arg355His,ENST00000596536,;FCHO1,missense_variant,p.Arg355His,ENST00000600676,;FCHO1,missense_variant,p.Arg355His,ENST00000389133,;FCHO1,missense_variant,p.Arg355His,ENST00000594202,;FCHO1,missense_variant,p.Arg355His,ENST00000539407,;FCHO1,missense_variant,p.Arg362His,ENST00000597512,;FCHO1,missense_variant,p.Arg355His,ENST00000252771,;FCHO1,missense_variant,p.Arg305His,ENST00000595033,;FCHO1,missense_variant,p.Arg355His,ENST00000596951,;FCHO1,downstream_gene_variant,,ENST00000596507,;FCHO1,downstream_gene_variant,,ENST00000595023,;FCHO1,downstream_gene_variant,,ENST00000595549,;FCHO1,non_coding_transcript_exon_variant,,ENST00000596522,;FCHO1,upstream_gene_variant,,ENST00000595594,;FCHO1,downstream_gene_variant,,ENST00000600393,;FCHO1,upstream_gene_variant,,ENST00000600058,;FCHO1,upstream_gene_variant,,ENST00000599766,;FCHO1,upstream_gene_variant,,ENST00000602111,;FCHO1,downstream_gene_variant,,ENST00000597076,;	1343	34	24	SUCCESS
CACTIN	58509	.	GRCh37	19	3619227	3619227	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	26	0	ENST00000221899.3:c.694A>G	p.Ile232Val	p.I232V	ENST00000221899		232	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45920.1	898	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGATGCGGA	NONE	.	.	hmmpanther:PTHR21737:SF6,hmmpanther:PTHR21737,Pfam_domain:PF10312	.	.	ENSP00000415078	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.747)	.	deleterious(0.01)	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,missense_variant,p.Ile232Val,ENST00000221899,;CACTIN,missense_variant,p.Ile300Val,ENST00000248420,;CACTIN,missense_variant,p.Ile300Val,ENST00000429344,;CACTIN,upstream_gene_variant,,ENST00000588749,;CACTIN,missense_variant,p.Ile300Val,ENST00000585942,;CACTIN,non_coding_transcript_exon_variant,,ENST00000587175,;CACTIN,upstream_gene_variant,,ENST00000591978,;CACTIN,upstream_gene_variant,,ENST00000589321,;	951	26	29	SUCCESS
C5AR2	27202	.	GRCh37	19	47844150	47844150	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	62	0	ENST00000595464.1:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000595464	NM_001271749.1	32	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS12699.1	94	MUTECT|MUSE	.	CCATCGACCCG	NONE	.	.	hmmpanther:PTHR24225:SF1,hmmpanther:PTHR24225,Superfamily_domains:SSF81321	.	.	ENSP00000472620	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000595464	Transcript	.	.	ENSG00000134830	4527	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	deleterious(0.03)	.	C5AR2_HUMAN	C5AR2	HGNC	.	.	UPI000003BCC8	SNV	C5AR2,missense_variant,p.Asp32Tyr,ENST00000257267,;C5AR2,missense_variant,p.Asp32Tyr,ENST00000600626,;C5AR2,missense_variant,p.Asp32Tyr,ENST00000595464,;	312	62	54	SUCCESS
GRIN2D	2906	.	GRCh37	19	48918223	48918223	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	119	0	ENST00000263269.3:c.1515C>G	p.Leu505=	p.L505=	ENST00000263269	NM_000836.2	505	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS12719.1	1515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTCTACCT	NONE	.	.	hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Gene3D:3.40.190.10,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000263269	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,synonymous_variant,p.%3D,ENST00000263269,;	1603	119	109	SUCCESS
LILRA6	79168	.	GRCh37	19	54746592	54746592	+	synonymous_variant	Silent	SNP	G	G	A	rs777955658	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	57	200	0	ENST00000396365.2:c.9C>T	p.Pro3=	p.P3=	ENST00000396365	NM_024318.2	3	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42610.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGGGCGT	BUFFER|p.T2T|c.6G>A|3,BUFFER|p.T2T|c.6G>A|3	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738	.	.	ENSP00000379651	.	1/8	.	.	.	.	.	.	.	.	rs777955658	1/8	PASS	ENST00000396365	Transcript	.	.	ENSG00000244482	15495	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRA6_HUMAN	LILRA6	HGNC	.	.	UPI000022A9CA	SNV	LILRA6,synonymous_variant,p.%3D,ENST00000245621,;LILRB3,synonymous_variant,p.%3D,ENST00000407860,;LILRA6,synonymous_variant,p.%3D,ENST00000270464,;LILRA6,synonymous_variant,p.%3D,ENST00000391735,;LILRA6,synonymous_variant,p.%3D,ENST00000440558,;LILRA6,synonymous_variant,p.%3D,ENST00000396365,;LILRA6,synonymous_variant,p.%3D,ENST00000419410,;LILRA6,synonymous_variant,p.%3D,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;	49	200	214	SUCCESS
ZSCAN5A	79149	.	GRCh37	19	56736035	56736035	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	19	340	0	ENST00000391713.1:c.381A>G	p.Lys127=	p.K127=	ENST00000391713	NM_024303.1	127	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS12941.1	381	MUTECT|MUSE	.	ACCCATTTCTT	NONE	.	.	hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032,SMART_domains:SM00431	.	.	ENSP00000467631	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000587340	Transcript	.	.	ENSG00000131848	23710	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZSA5A_HUMAN	ZSCAN5A	HGNC	K7ESN6_HUMAN,K7ESE4_HUMAN,K7EQW6_HUMAN,K7EN85_HUMAN,K7EMC4_HUMAN,K7EIX9_HUMAN	.	UPI0000072024	SNV	ZSCAN5A,synonymous_variant,p.%3D,ENST00000592355,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000587340,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000391713,;ZSCAN5A,intron_variant,,ENST00000587492,;ZSCAN5A,intron_variant,,ENST00000593106,;ZSCAN5A,intron_variant,,ENST00000254165,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,non_coding_transcript_exon_variant,,ENST00000592101,;	1077	340	256	SUCCESS
PEG3	5178	.	GRCh37	19	57325481	57325481	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	87	0	ENST00000326441.9:c.4329C>G	p.Ala1443=	p.A1443=	ENST00000326441	NM_006210.2	1443	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS12948.1	4329	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGGCCTC	NONE	.	.	.	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	COSM331065,COSM714356,COSM714357,COSM331066	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	.	.	.	1,1,1,1	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,synonymous_variant,p.%3D,ENST00000423103,;PEG3,synonymous_variant,p.%3D,ENST00000599577,;PEG3,synonymous_variant,p.%3D,ENST00000599534,;PEG3,synonymous_variant,p.%3D,ENST00000598410,;PEG3,synonymous_variant,p.%3D,ENST00000326441,;PEG3,synonymous_variant,p.%3D,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	4693	87	77	SUCCESS
ZNF560	147741	.	GRCh37	19	9578805	9578805	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	13	154	0	ENST00000301480.4:c.818C>G	p.Ser273Cys	p.S273C	ENST00000301480	NM_152476.2	273	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS12214.1	818	MUTECT|MUSE|VARSCANS	.	GGAAAGATTTT	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44	.	.	ENSP00000301480	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301480	Transcript	.	.	ENSG00000198028	26484	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.869)	.	tolerated(0.06)	.	ZN560_HUMAN	ZNF560	HGNC	.	.	UPI000013E720	SNV	ZNF560,missense_variant,p.Ser273Cys,ENST00000301480,;ZNF560,downstream_gene_variant,,ENST00000585974,;	1032	154	143	SUCCESS
NHLH2	4808	.	GRCh37	1	116380822	116380822	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779964908	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	53	0	ENST00000320238.3:c.172C>T	p.Pro58Ser	p.P58S	ENST00000320238	NM_005599.3	58	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS885.1	172	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGGGTAGA	NONE	byFrequency	.	hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF14	.	.	ENSP00000358519	.	1/1	.	.	.	.	.	.	.	.	rs779964908	1/1	PASS	ENST00000369506	Transcript	.	.	ENSG00000177551	7818	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.6)	.	HEN2_HUMAN	NHLH2	HGNC	A6PVY9_HUMAN	.	UPI000012C5FF	SNV	NHLH2,missense_variant,p.Pro58Ser,ENST00000429731,;NHLH2,missense_variant,p.Pro58Ser,ENST00000369506,;NHLH2,missense_variant,p.Pro58Ser,ENST00000320238,;	5717	53	35	SUCCESS
TDRD10	126668	.	GRCh37	1	154519928	154519928	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	24	111	0	ENST00000368480.3:c.996G>T	p.Gly332=	p.G332=	ENST00000368480		332	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41406.1	996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGAAAAT	NONE	.	.	hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948	.	.	ENSP00000357465	.	12/12	.	.	.	.	.	.	.	.	COSM3474702	12/12	PASS	ENST00000368480	Transcript	.	.	ENSG00000163239	25316	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TDR10_HUMAN	TDRD10	HGNC	.	.	UPI0001533DB6	SNV	TDRD10,synonymous_variant,p.%3D,ENST00000368482,;TDRD10,synonymous_variant,p.%3D,ENST00000368480,;UBE2Q1,downstream_gene_variant,,ENST00000292211,;TDRD10,non_coding_transcript_exon_variant,,ENST00000468714,;TDRD10,non_coding_transcript_exon_variant,,ENST00000479937,;TDRD10,downstream_gene_variant,,ENST00000462871,;UBE2Q1,downstream_gene_variant,,ENST00000467683,;UBE2Q1,downstream_gene_variant,,ENST00000497453,;UBE2Q1,downstream_gene_variant,,ENST00000474181,;UBE2Q1,downstream_gene_variant,,ENST00000491572,;UBE2Q1,downstream_gene_variant,,ENST00000476612,;UBE2Q1,downstream_gene_variant,,ENST00000483639,;	1081	111	116	SUCCESS
DNAJC16	23341	.	GRCh37	1	15888777	15888777	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	12	84	0	ENST00000375847.3:c.1295A>T	p.Asp432Val	p.D432V	ENST00000375847	NM_015291.2	432	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS30606.1	1295	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGACACCT	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143	.	.	ENSP00000365007	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000375847	Transcript	.	.	ENSG00000116138	29157	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	deleterious(0.05)	.	DJC16_HUMAN	DNAJC16	HGNC	B3KMS3_HUMAN	.	UPI000000DBDB	SNV	DNAJC16,missense_variant,p.Asp432Val,ENST00000375838,;DNAJC16,missense_variant,p.Asp432Val,ENST00000375849,;DNAJC16,missense_variant,p.Asp432Val,ENST00000375847,;RP4-680D5.8,downstream_gene_variant,,ENST00000606186,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000483270,;DNAJC16,upstream_gene_variant,,ENST00000490811,;DNAJC16,upstream_gene_variant,,ENST00000479655,;DNAJC16,missense_variant,p.Asp432Val,ENST00000475133,;DNAJC16,upstream_gene_variant,,ENST00000472665,;	1459	84	88	SUCCESS
ARHGEF19	128272	.	GRCh37	1	16531261	16531261	+	synonymous_variant	Silent	SNP	G	G	T	rs150370119	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	61	0	ENST00000270747.3:c.1900C>A	p.Arg634=	p.R634=	ENST00000270747	NM_153213.3	634	Cgg/Agg	0	A:0	.	.	.	.	T	R	protein_coding	YES	CCDS170.1	1900	MUTECT|MUSE	.	CTTCCGCCGAG	NONE	byCluster	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF6,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	A:0.0002	ENSP00000270747	.	12/16	.	.	.	.	.	.	.	.	rs150370119	12/16	PASS	ENST00000270747	Transcript	.	.	ENSG00000142632	26604	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHGJ_HUMAN	ARHGEF19	HGNC	.	.	UPI0000074533	SNV	ARHGEF19,synonymous_variant,p.%3D,ENST00000270747,;ARHGEF19,downstream_gene_variant,,ENST00000449495,;ARHGEF19,downstream_gene_variant,,ENST00000441785,;ARHGEF19,non_coding_transcript_exon_variant,,ENST00000478117,;ARHGEF19,downstream_gene_variant,,ENST00000478210,;ARHGEF19,downstream_gene_variant,,ENST00000471928,;	2037	61	42	SUCCESS
F5	2153	.	GRCh37	1	169505910	169505910	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	66	0	ENST00000367797.3:c.4805A>G	p.Asp1602Gly	p.D1602G	ENST00000367797	NM_000130.4	1602	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1281.1	4805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATATCTGTT	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000356771	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	tolerated(0.05)	.	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,missense_variant,p.Asp1607Gly,ENST00000367796,;F5,missense_variant,p.Asp1602Gly,ENST00000367797,;	5007	66	62	SUCCESS
DHX9	1660	.	GRCh37	1	182823255	182823255	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	31	177	0	ENST00000367549.3:c.568C>G	p.Gln190Glu	p.Q190E	ENST00000367549	NM_001357.4	190	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS41444.1	568	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCAGAAA	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000356520	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Gln190Glu,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000479271,;DHX9,non_coding_transcript_exon_variant,,ENST00000483416,;DHX9,upstream_gene_variant,,ENST00000477802,;	678	177	221	SUCCESS
TAS1R2	80834	.	GRCh37	1	19166377	19166377	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368636486	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	27	123	0	ENST00000375371.3:c.2236G>A	p.Ala746Thr	p.A746T	ENST00000375371	NM_152232.2	746	Gcc/Acc	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS187.1	2236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGCGAAGC	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Pfam_domain:PF00003,Prints_domain:PR00248	.	T:0.0002	ENSP00000364520	.	6/6	.	.	.	.	.	.	.	.	rs368636486,COSM901303	6/6	PASS	ENST00000375371	Transcript	.	.	ENSG00000179002	14905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.985)	.	tolerated(0.06)	0,1	TS1R2_HUMAN	TAS1R2	HGNC	.	.	UPI0000456168	SNV	TAS1R2,missense_variant,p.Ala746Thr,ENST00000375371,;	2258	123	144	SUCCESS
C1orf115	79762	.	GRCh37	1	220870013	220870013	+	synonymous_variant	Silent	SNP	C	C	T	rs775578543	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	89	0	ENST00000294889.5:c.369C>T	p.Phe123=	p.F123=	ENST00000294889	NM_024709.4	123	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS1524.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCGCTGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14680,hmmpanther:PTHR14680:SF1	.	.	ENSP00000294889	.	2/2	.	.	.	.	.	.	.	.	rs775578543,COSM532862	2/2	PASS	ENST00000294889	Transcript	.	.	ENSG00000162817	25873	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CA115_HUMAN	C1orf115	HGNC	.	.	UPI0000073CC0	SNV	C1orf115,synonymous_variant,p.%3D,ENST00000294889,;	927	89	128	SUCCESS
C1orf100	200159	.	GRCh37	1	244538727	244538727	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764037259	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	58	0	ENST00000308105.4:c.110T>C	p.Leu37Pro	p.L37P	ENST00000308105	NM_001012970.2	37	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31079.1	110	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTGGCAA	NONE	byFrequency	.	hmmpanther:PTHR31763	.	.	ENSP00000311218	.	3/5	.	.	.	.	.	.	.	.	rs764037259	3/5	PASS	ENST00000308105	Transcript	.	.	ENSG00000173728	30435	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	CA100_HUMAN	C1orf100	HGNC	.	.	UPI0000470251	SNV	C1orf100,missense_variant,p.Leu37Pro,ENST00000366537,;C1orf100,missense_variant,p.Leu37Pro,ENST00000308105,;RP11-518L10.5,non_coding_transcript_exon_variant,,ENST00000417765,;C1orf100,non_coding_transcript_exon_variant,,ENST00000486803,;C1orf100,upstream_gene_variant,,ENST00000470211,;	223	58	66	SUCCESS
ARTN	9048	.	GRCh37	1	44402237	44402237	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	40	0	ENST00000372354.3:c.463C>G	p.Arg155Gly	p.R155G	ENST00000372354		155	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS502.1	487	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCGCCGC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF9,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000387435	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000414809	Transcript	.	.	ENSG00000117407	727	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.867)	.	deleterious(0.02)	.	ARTN_HUMAN	ARTN	HGNC	E9PN22_HUMAN	.	UPI00001AFA84	SNV	ARTN,missense_variant,p.Arg172Gly,ENST00000438616,;ARTN,missense_variant,p.Arg163Gly,ENST00000414809,;ARTN,missense_variant,p.Arg163Gly,ENST00000498139,;ARTN,missense_variant,p.Arg155Gly,ENST00000372354,;ARTN,missense_variant,p.Arg155Gly,ENST00000372359,;ARTN,downstream_gene_variant,,ENST00000472435,;ARTN,downstream_gene_variant,,ENST00000477048,;ARTN,downstream_gene_variant,,ENST00000471394,;ARTN,downstream_gene_variant,,ENST00000491846,;ARTN,downstream_gene_variant,,ENST00000474592,;ARTN,downstream_gene_variant,,ENST00000479128,;	1269	40	24	SUCCESS
EIF2B3	8891	.	GRCh37	1	45363027	45363027	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	42	0	ENST00000360403.2:c.656G>A	p.Gly219Glu	p.G219E	ENST00000360403	NM_020365.4	219	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS517.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCCATTT	NONE	.	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF8,Superfamily_domains:SSF53448	.	.	ENSP00000353575	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000360403	Transcript	.	.	ENSG00000070785	3259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.08)	.	EI2BG_HUMAN	EIF2B3	HGNC	Q9HA31_HUMAN	.	UPI0000046983	SNV	EIF2B3,missense_variant,p.Gly219Glu,ENST00000360403,;EIF2B3,missense_variant,p.Gly219Glu,ENST00000372183,;EIF2B3,missense_variant,p.Gly40Glu,ENST00000439363,;	783	42	35	SUCCESS
BCL10	8915	.	GRCh37	1	85742074	85742074	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	53	0	ENST00000370580.1:c.-39C>T		p.*13*	ENST00000370580	NM_003921.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS704.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGCTCGG	NONE	.	.	.	.	.	ENSP00000359612	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370580	Transcript	.	.	ENSG00000142867	989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL10_HUMAN	BCL10	HGNC	.	.	UPI000012682F	SNV	BCL10,5_prime_UTR_variant,,ENST00000370580,;RP11-131L23.1,upstream_gene_variant,,ENST00000426125,;RP11-131L23.1,upstream_gene_variant,,ENST00000427819,;	700	53	43	SUCCESS
C20orf62	0	.	GRCh37	20	43090687	43090687	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	108	0	ENST00000372910.3:c.351T>C	p.Pro117=	p.P117=	ENST00000372910	NM_001287807.1	117	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	.	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTAAGGGGA	NONE	.	.	.	.	.	ENSP00000362001	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372910	Transcript	.	.	ENSG00000168746	16195	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT062_HUMAN	C20orf62	HGNC	.	.	UPI0000198842	SNV	C20orf62,synonymous_variant,p.%3D,ENST00000372910,;C20orf62,intron_variant,,ENST00000306731,;RPL37AP1,downstream_gene_variant,,ENST00000412502,;	416	108	136	SUCCESS
TNRC6B	23112	.	GRCh37	22	40661255	40661255	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	18	175	0	ENST00000454349.2:c.1021C>G	p.Gln341Glu	p.Q341E	ENST00000454349	NM_001162501.1	341	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS54533.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTCAGACA	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32	.	.	ENSP00000401946	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000454349	Transcript	.	.	ENSG00000100354	29190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	.	deleterious(0.03)	.	TNR6B_HUMAN	TNRC6B	HGNC	.	.	UPI00017A6F19	SNV	TNRC6B,missense_variant,p.Gln341Glu,ENST00000454349,;TNRC6B,missense_variant,p.Gln84Glu,ENST00000446273,;TNRC6B,missense_variant,p.Gln341Glu,ENST00000335727,;TNRC6B,intron_variant,,ENST00000402203,;TNRC6B,intron_variant,,ENST00000301923,;	1232	175	133	SUCCESS
TTN	7273	.	GRCh37	2	179447173	179447173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	38	143	0	ENST00000591111.1:c.61087G>A	p.Ala20363Thr	p.A20363T	ENST00000591111		20363	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS59435.1	66010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGCCCAGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	314/363	.	.	.	.	.	.	.	.	.	314/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala13064Thr,ENST00000359218,;TTN,missense_variant,p.Ala20363Thr,ENST00000591111,;TTN,missense_variant,p.Ala22004Thr,ENST00000589042,;TTN,missense_variant,p.Ala13131Thr,ENST00000342175,;TTN,missense_variant,p.Ala19436Thr,ENST00000342992,;TTN,missense_variant,p.Ala12939Thr,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;	66235	143	163	SUCCESS
ZNF804A	91752	.	GRCh37	2	185802852	185802852	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	126	0	ENST00000302277.6:c.2729T>G	p.Val910Gly	p.V910G	ENST00000302277	NM_194250.1	910	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS2291.1	2729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTTTCCA	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.09)	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.Val910Gly,ENST00000302277,;	3323	126	92	SUCCESS
SF3B1	23451	.	GRCh37	2	198266709	198266709	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	43	242	0	ENST00000335508.6:c.2223G>T	p.Lys741Asn	p.K741N	ENST00000335508	NM_012433.2	741	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS33356.1	2223	RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCTTTCC	CODON|p.K741T|c.2222A>C|4,BUFFER|p.G740E|c.2219G>A|4	.	.	hmmpanther:PTHR12097,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	15/25	.	.	.	.	.	.	.	.	COSM572730,COSM1159841	15/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.992)	.	deleterious(0)	1,1	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Lys741Asn,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,downstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	2315	242	234	SUCCESS
AOX1	316	.	GRCh37	2	201457898	201457898	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	13	62	0	ENST00000374700.2:c.75A>G	p.Thr25=	p.T25=	ENST00000374700	NM_001159.3	25	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS33360.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACAATGCT	NONE	.	.	PROSITE_profiles:PS51085,hmmpanther:PTHR11908,Gene3D:3.10.20.30,Pfam_domain:PF00111,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF54292	.	.	ENSP00000363832	.	2/35	.	.	.	.	.	.	.	.	.	2/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,synonymous_variant,p.%3D,ENST00000374700,;AOX1,5_prime_UTR_variant,,ENST00000454629,;	316	62	85	SUCCESS
APOB	338	.	GRCh37	2	21229941	21229941	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	19	134	0	ENST00000233242.1:c.9799A>C	p.Met3267Leu	p.M3267L	ENST00000233242	NM_000384.2	3267	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS1703.1	9799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACATCTCTA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Met3267Leu,ENST00000233242,;	9927	134	118	SUCCESS
USP40	55230	.	GRCh37	2	234420374	234420374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	70	0	ENST00000251722.6:c.2504A>T	p.Lys835Ile	p.K835I	ENST00000251722		835	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS46547.1	2540	MUTECT|MUSE	.	GTGCTTTTCCA	NONE	.	.	hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006	.	.	ENSP00000415434	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.586)	.	deleterious(0.01)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.Lys835Ile,ENST00000251722,;USP40,missense_variant,p.Lys11Ile,ENST00000409945,;USP40,missense_variant,p.Lys835Ile,ENST00000427112,;USP40,missense_variant,p.Lys847Ile,ENST00000450966,;USP40,missense_variant,p.Lys11Ile,ENST00000430158,;USP40,non_coding_transcript_exon_variant,,ENST00000483216,;	2540	70	77	SUCCESS
FBXO11	80204	.	GRCh37	2	48132711	48132711	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs781277953	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	32	0	ENST00000403359.3:c.149A>C	p.Gln50Pro	p.Q50P	ENST00000403359	NM_001190274.1	50	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS54357.1	149	RADIA|MUTECT|MUSE	.	GCTGCTGCGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22990:SF12,hmmpanther:PTHR22990	.	.	ENSP00000384823	.	1/23	.	.	.	.	.	.	.	.	rs781277953,COSM4141128	1/23	PASS	ENST00000403359	Transcript	.	.	ENSG00000138081	13590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	unknown(0)	.	tolerated_low_confidence(0.21)	0,1	FBX11_HUMAN	FBXO11	HGNC	E7EP88_HUMAN,C9IYF0_HUMAN,B5MCV6_HUMAN	.	UPI00005793B7	SNV	FBXO11,missense_variant,p.Gln50Pro,ENST00000403359,;FBXO11,5_prime_UTR_variant,,ENST00000378314,;FBXO11,5_prime_UTR_variant,,ENST00000316377,;FBXO11,upstream_gene_variant,,ENST00000424163,;AC079807.2,upstream_gene_variant,,ENST00000439870,;AC079807.2,upstream_gene_variant,,ENST00000432064,;AC079807.2,upstream_gene_variant,,ENST00000417692,;FBXO11,upstream_gene_variant,,ENST00000492225,;	222	32	43	SUCCESS
STON1-GTF2A1L	286749	.	GRCh37	2	48809324	48809324	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	140	0	ENST00000394754.1:c.1552A>T	p.Lys518Ter	p.K518*	ENST00000394754	NM_172311.2	518	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS1840.1	1552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAAGACT	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,Gene3D:2.60.40.1170,Pfam_domain:PF00928,Superfamily_domains:0038852	.	.	ENSP00000378236	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000394754	Transcript	.	.	ENSG00000068781	30651	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	STON1-GTF2A1L	HGNC	Q53S48_HUMAN	.	UPI000013C976	SNV	STON1-GTF2A1L,stop_gained,p.Lys518Ter,ENST00000309827,;STON1-GTF2A1L,stop_gained,p.Lys518Ter,ENST00000394754,;STON1,stop_gained,p.Lys518Ter,ENST00000406226,;STON1-GTF2A1L,stop_gained,p.Lys518Ter,ENST00000402114,;STON1-GTF2A1L,stop_gained,p.Lys518Ter,ENST00000405008,;STON1-GTF2A1L,stop_gained,p.Lys518Ter,ENST00000394751,;STON1,stop_gained,p.Lys518Ter,ENST00000404752,;STON1,stop_gained,p.Lys518Ter,ENST00000309835,;STON1,upstream_gene_variant,,ENST00000444932,;	1666	140	105	SUCCESS
ADAM17	6868	.	GRCh37	2	9642319	9642319	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375981644	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	66	0	ENST00000310823.3:c.1631G>T	p.Gly544Val	p.G544V	ENST00000310823	NM_003183.4	544	gGc/gTc	0	G:0	.	.	.	.	A	G/V	protein_coding	YES	CCDS1665.1	1631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGCCTTTG	NONE	byCluster	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	G:0.0001	ENSP00000309968	.	13/19	.	.	.	.	.	.	.	.	rs375981644	13/19	PASS	ENST00000310823	Transcript	.	.	ENSG00000151694	195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	ADA17_HUMAN	ADAM17	HGNC	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN	.	UPI00001254D4	SNV	ADAM17,missense_variant,p.Gly544Val,ENST00000310823,;RP11-400L8.2,upstream_gene_variant,,ENST00000472619,;RP11-400L8.2,upstream_gene_variant,,ENST00000480764,;	1814	66	69	SUCCESS
ZAP70	7535	.	GRCh37	2	98340506	98340506	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	61	0	ENST00000264972.5:c.7G>T	p.Asp3Tyr	p.D3Y	ENST00000264972	NM_001079.3	3	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS33254.1	7	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGACCCC	NONE	.	.	PIRSF_domain:PIRSF000604	.	.	ENSP00000264972	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000264972	Transcript	.	.	ENSG00000115085	12858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.814)	.	deleterious(0)	.	ZAP70_HUMAN	ZAP70	HGNC	B4E0E2_HUMAN	.	UPI000013C370	SNV	ZAP70,missense_variant,p.Asp3Tyr,ENST00000264972,;ZAP70,upstream_gene_variant,,ENST00000442208,;ZAP70,upstream_gene_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;	222	61	50	SUCCESS
RPL32	6161	.	GRCh37	3	12881778	12881778	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	24	0	ENST00000396953.2:c.-42G>T		p.*14*	ENST00000396953				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2614.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCCTGGA	NONE	.	.	.	.	.	ENSP00000416429	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429711	Transcript	.	.	ENSG00000144713	10336	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL32_HUMAN	RPL32	HGNC	D3YTI8_HUMAN,D3YTB1_HUMAN	.	UPI0000001684	SNV	RPL32,5_prime_UTR_variant,,ENST00000396957,;RPL32,5_prime_UTR_variant,,ENST00000457131,;RPL32,5_prime_UTR_variant,,ENST00000435983,;RPL32,5_prime_UTR_variant,,ENST00000396953,;RPL32,intron_variant,,ENST00000273223,;RPL32,intron_variant,,ENST00000434963,;RPL32,intron_variant,,ENST00000429711,;CAND2,intron_variant,,ENST00000454887,;SNORA7A,downstream_gene_variant,,ENST00000384765,;RPL32,intron_variant,,ENST00000452606,;	.	24	23	SUCCESS
ZNF502	91392	.	GRCh37	3	44762762	44762763	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs757972659	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	253	42	271	0	ENST00000296091.4:c.459dup	p.Ser154IlefsTer5	p.S154Ifs*5	ENST00000296091	NM_001134440.1	151	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS2719.1	453-454	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACAGAAAAA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5	.	.	ENSP00000296091	.	4/4	.	.	.	.	.	.	.	.	rs757972659	4/4	PASS	ENST00000296091	Transcript	.	.	ENSG00000196653	23718	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN502_HUMAN	ZNF502	HGNC	C9JLT3_HUMAN	.	UPI0000072CFB	insertion	ZNF502,frameshift_variant,p.Ser154IlefsTer5,ENST00000449836,;ZNF502,frameshift_variant,p.Ser154IlefsTer?,ENST00000411443,;ZNF502,frameshift_variant,p.Ser154IlefsTer5,ENST00000436624,;ZNF502,frameshift_variant,p.Ser154IlefsTer5,ENST00000296091,;	709-710	271	295	SUCCESS
CACNA1D	776	.	GRCh37	3	53845336	53845336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	99	0	ENST00000350061.5:c.6389T>C	p.Leu2130Pro	p.L2130P	ENST00000350061	NM_001128840.2	2130	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS2872.1	6449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCTACAGG	NONE	.	.	.	.	.	ENSP00000288139	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	tolerated_low_confidence(0.12)	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,missense_variant,p.Leu2150Pro,ENST00000288139,;CACNA1D,missense_variant,p.Leu2106Pro,ENST00000422281,;CACNA1D,missense_variant,p.Leu2130Pro,ENST00000350061,;CACNA1D,missense_variant,p.Leu1823Pro,ENST00000481478,;CHDH,downstream_gene_variant,,ENST00000315251,;CACNA1D,downstream_gene_variant,,ENST00000544977,;	6567	99	97	SUCCESS
FOXP1	27086	.	GRCh37	3	71021808	71021808	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	106	0	ENST00000318789.4:c.1550T>G	p.Leu517Arg	p.L517R	ENST00000318789	NM_032682.5	517	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS58837.1	1556	RADIA|MUTECT|MUSE|VARSCANS	.	GACTAAGATTA	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF147,hmmpanther:PTHR11829,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000420736	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000491238	Transcript	.	.	ENSG00000114861	3823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	FOXP1	HGNC	Q8IXF4_HUMAN,E9PFD3_HUMAN,C9J5T4_HUMAN,C9IYY1_HUMAN,B4DMV4_HUMAN	.	UPI00002099BD	SNV	FOXP1,missense_variant,p.Leu519Arg,ENST00000491238,;FOXP1,missense_variant,p.Leu517Arg,ENST00000498215,;FOXP1,missense_variant,p.Leu517Arg,ENST00000318789,;FOXP1,missense_variant,p.Leu517Arg,ENST00000475937,;FOXP1,missense_variant,p.Leu413Arg,ENST00000497355,;FOXP1,missense_variant,p.Leu516Arg,ENST00000493089,;FOXP1,missense_variant,p.Leu441Arg,ENST00000484350,;FOXP1,intron_variant,,ENST00000468577,;FOXP1,missense_variant,p.Leu517Arg,ENST00000327590,;	1710	106	65	SUCCESS
FSTL5	56884	.	GRCh37	4	162577513	162577513	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	58	0	ENST00000306100.5:c.861T>C	p.Ile287=	p.I287=	ENST00000306100	NM_001128427.2	287	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS3802.1	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATAATATT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913,PROSITE_profiles:PS50835	.	.	ENSP00000305334	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,synonymous_variant,p.%3D,ENST00000379164,;FSTL5,synonymous_variant,p.%3D,ENST00000536695,;FSTL5,synonymous_variant,p.%3D,ENST00000427802,;FSTL5,synonymous_variant,p.%3D,ENST00000306100,;FSTL5,non_coding_transcript_exon_variant,,ENST00000511170,;	1298	58	49	SUCCESS
WDR36	134430	.	GRCh37	5	110445992	110445992	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	94	0	ENST00000506538.2:c.1599C>T	p.Gly533=	p.G533=	ENST00000506538	NM_139281.2	533	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4102.1	1599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCAAGGA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320	.	.	ENSP00000423067	.	13/23	.	.	.	.	.	.	.	.	COSM4127066	13/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,synonymous_variant,p.%3D,ENST00000513710,;WDR36,synonymous_variant,p.%3D,ENST00000506538,;WDR36,synonymous_variant,p.%3D,ENST00000505303,;	2172	94	101	SUCCESS
AFF4	27125	.	GRCh37	5	132270332	132270332	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	40	82	0	ENST00000265343.5:c.425G>C	p.Ser142Thr	p.S142T	ENST00000265343	NM_014423.3	142	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS4164.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACTACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF15,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000265343	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000265343	Transcript	1	.	ENSG00000072364	17869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.46)	.	AFF4_HUMAN	AFF4	HGNC	C9JCE0_HUMAN	.	UPI000006F558	SNV	AFF4,missense_variant,p.Ser142Thr,ENST00000378595,;AFF4,missense_variant,p.Ser142Thr,ENST00000421773,;AFF4,missense_variant,p.Ser142Thr,ENST00000265343,;AFF4,upstream_gene_variant,,ENST00000425658,;AFF4,non_coding_transcript_exon_variant,,ENST00000491831,;AFF4,upstream_gene_variant,,ENST00000378593,;AFF4,non_coding_transcript_exon_variant,,ENST00000465484,;	805	83	134	SUCCESS
BRD8	10902	.	GRCh37	5	137475816	137475816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	115	1	ENST00000254900.5:c.3655A>G	p.Ser1219Gly	p.S1219G	ENST00000254900	NM_139199.1	1219	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS4198.1	3655	RADIA|MUTECT|MUSE	.	CAGACTACTTG	NONE	.	.	.	.	.	ENSP00000254900	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.06)	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,missense_variant,p.Ser1219Gly,ENST00000254900,;NME5,upstream_gene_variant,,ENST00000265191,;BRD8,downstream_gene_variant,,ENST00000427976,;NME5,upstream_gene_variant,,ENST00000512954,;NME5,upstream_gene_variant,,ENST00000511353,;	4027	117	121	SUCCESS
IK	3550	.	GRCh37	5	140027509	140027509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	17	121	0	ENST00000417647.2:c.16A>T	p.Ser6Cys	p.S6C	ENST00000417647	NM_006083.3	6	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS47280.1	16	RADIA|MUTECT|MUSE|VARSCANS	.	GAGATAGTAAG	NONE	.	.	.	.	.	ENSP00000396301	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000417647	Transcript	.	.	ENSG00000113141	5958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.174)	.	deleterious_low_confidence(0.05)	.	RED_HUMAN	IK	HGNC	E7EQZ7_HUMAN,B4DEH2_HUMAN	.	UPI0000378337	SNV	IK,missense_variant,p.Ser6Cys,ENST00000417647,;IK,missense_variant,p.Ser6Cys,ENST00000508301,;IK,missense_variant,p.Ser6Cys,ENST00000507593,;IK,intron_variant,,ENST00000513256,;NDUFA2,upstream_gene_variant,,ENST00000252102,;TMCO6,downstream_gene_variant,,ENST00000394671,;IK,upstream_gene_variant,,ENST00000502899,;TMCO6,downstream_gene_variant,,ENST00000252100,;NDUFA2,upstream_gene_variant,,ENST00000512088,;TMCO6,downstream_gene_variant,,ENST00000537378,;MIR3655,non_coding_transcript_exon_variant,,ENST00000581765,;IK,upstream_gene_variant,,ENST00000523672,;NDUFA2,upstream_gene_variant,,ENST00000510680,;IK,missense_variant,p.Ser6Cys,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000509269,;IK,upstream_gene_variant,,ENST00000512827,;NDUFA2,upstream_gene_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000515653,;TMCO6,downstream_gene_variant,,ENST00000504069,;TMCO6,downstream_gene_variant,,ENST00000510336,;TMCO6,downstream_gene_variant,,ENST00000509605,;TMCO6,downstream_gene_variant,,ENST00000515265,;	155	121	149	SUCCESS
PCDHA3	56145	.	GRCh37	5	140181355	140181355	+	synonymous_variant	Silent	SNP	C	C	T	rs1554121681	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	113	0	ENST00000522353.2:c.573C>T	p.Ser191=	p.S191=	ENST00000522353	NM_018906.2	191	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54915.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCCTTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,synonymous_variant,p.%3D,ENST00000532566,;PCDHA3,synonymous_variant,p.%3D,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA2,downstream_gene_variant,,ENST00000378132,;	573	113	146	SUCCESS
PCDHA12	56137	.	GRCh37	5	140255556	140255556	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs17844352	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	48	130	0	ENST00000398631.2:c.499C>A	p.Leu167Ile	p.L167I	ENST00000398631	NM_018903.2	167	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS47285.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCTTTTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	rs17844352,COSM1541913,COSM3610211	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.135)	.	tolerated_low_confidence(0.07)	0,1,1	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,missense_variant,p.Leu167Ile,ENST00000398631,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	499	130	189	SUCCESS
C5orf60	285679	.	GRCh37	5	179070212	179070212	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	39	0	ENST00000448248.2:c.342-1G>T		p.X114_splice	ENST00000448248	NM_001142306.1	114		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47353.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCTGCAG	NONE	.	.	.	.	.	ENSP00000404583	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000448248	Transcript	.	.	ENSG00000204661	27753	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE060_HUMAN	C5orf60	HGNC	.	.	UPI00004191D3	SNV	C5orf60,splice_acceptor_variant,,ENST00000448248,;C5orf60,splice_acceptor_variant,,ENST00000506142,;C5orf60,splice_acceptor_variant,,ENST00000511063,;C5orf60,splice_acceptor_variant,,ENST00000513845,;C5orf60,splice_acceptor_variant,,ENST00000512899,;C5orf60,splice_acceptor_variant,,ENST00000514664,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,;	.	39	51	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5190154	5190154	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	90	0	ENST00000274181.7:c.1118T>C	p.Met373Thr	p.M373T	ENST00000274181	NM_139056.2	373	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS43299.1	1118	RADIA|MUTECT|MUSE	.	ATTGATGGGGA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000274181	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.67)	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,missense_variant,p.Met373Thr,ENST00000274181,;ADAMTS16,missense_variant,p.Met373Thr,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	1256	90	86	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5190170	5190170	+	synonymous_variant	Silent	SNP	T	T	A	rs756811808	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	83	0	ENST00000274181.7:c.1134T>A	p.Thr378=	p.T378=	ENST00000274181	NM_139056.2	378	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43299.1	1134	RADIA|MUTECT|MUSE	.	GGGACTCGTCA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000274181	.	7/23	.	.	.	.	.	.	.	.	rs756811808	7/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,synonymous_variant,p.%3D,ENST00000274181,;ADAMTS16,synonymous_variant,p.%3D,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	1272	83	86	SUCCESS
KIF2A	3796	.	GRCh37	5	61681317	61681317	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	81	0	ENST00000401507.3:c.2042T>A	p.Val681Glu	p.V681E	ENST00000401507	NM_004520.4	681	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47216.1	2156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTGAAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF378,hmmpanther:PTHR24115	.	.	ENSP00000385000	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000407818	Transcript	1	.	ENSG00000068796	6318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	KIF2A_HUMAN	KIF2A	HGNC	D6RD93_HUMAN	.	UPI0001533DB2	SNV	KIF2A,missense_variant,p.Val719Glu,ENST00000407818,;KIF2A,missense_variant,p.Val661Glu,ENST00000381103,;KIF2A,missense_variant,p.Val681Glu,ENST00000401507,;KIF2A,missense_variant,p.Val635Glu,ENST00000506857,;DIMT1,downstream_gene_variant,,ENST00000199320,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,downstream_gene_variant,,ENST00000514605,;	2177	81	109	SUCCESS
SPZ1	84654	.	GRCh37	5	79617277	79617277	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs541182711	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	20	155	0	ENST00000296739.4:c.1243G>A	p.Ala415Thr	p.A415T	ENST00000296739	NM_032567.3	415	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43336.1	1243	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGCAAGA	NONE	.	.	hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF40	.	.	ENSP00000369611	.	1/1	.	.	.	.	.	.	.	.	rs541182711	1/1	PASS	ENST00000296739	Transcript	.	.	ENSG00000164299	30721	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	SPZ1_HUMAN	SPZ1	HGNC	D6RFL8_HUMAN	.	UPI000020CBA6	SNV	SPZ1,missense_variant,p.Ala415Thr,ENST00000296739,;SPZ1,downstream_gene_variant,,ENST00000511881,;	1488	155	183	SUCCESS
FAM174A	345757	.	GRCh37	5	99871445	99871445	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1561309844	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	37	0	ENST00000312637.4:c.211G>A	p.Ala71Thr	p.A71T	ENST00000312637	NM_198507.1	71	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4090.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGCTGAA	NONE	.	.	Pfam_domain:PF06679	.	.	ENSP00000307954	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000312637	Transcript	.	.	ENSG00000174132	24943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0.01)	.	F174A_HUMAN	FAM174A	HGNC	.	.	UPI000004BA6F	SNV	FAM174A,missense_variant,p.Ala71Thr,ENST00000312637,;CTD-2001C12.1,upstream_gene_variant,,ENST00000499025,;CTD-2001C12.1,upstream_gene_variant,,ENST00000504833,;FAM174A,non_coding_transcript_exon_variant,,ENST00000509040,;	437	37	77	SUCCESS
WISP3	0	.	GRCh37	6	112390640	112390641	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	104	0	ENST00000361714.1:c.939_940del	p.Phe313LeufsTer7	p.F313Lfs*7	ENST00000361714		312	acTTtt/actt	0	.	.	.	.	.	-	TF/TX	protein_coding	YES	CCDS5097.1	936-937	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCCACTTTTTGT	NONE	.	.	PROSITE_profiles:PS01225,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF3,Pfam_domain:PF00007,SMART_domains:SM00041,PIRSF_domain:PIRSF036495	.	.	ENSP00000354734	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361714	Transcript	.	.	ENSG00000112761	12771	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WISP3_HUMAN	WISP3	HGNC	Q3T1A9_HUMAN	.	UPI000021BFC1	deletion	WISP3,frameshift_variant,p.Phe313LeufsTer7,ENST00000361714,;WISP3,frameshift_variant,p.Phe71LeufsTer7,ENST00000409166,;WISP3,frameshift_variant,p.Phe272LeufsTer7,ENST00000368663,;WISP3,frameshift_variant,p.Phe295LeufsTer7,ENST00000230529,;WISP3,frameshift_variant,p.Phe295LeufsTer7,ENST00000368666,;WISP3,frameshift_variant,p.Phe295LeufsTer7,ENST00000604763,;TUBE1,downstream_gene_variant,,ENST00000368662,;TUBE1,downstream_gene_variant,,ENST00000604814,;WISP3,3_prime_UTR_variant,,ENST00000454589,;WISP3,3_prime_UTR_variant,,ENST00000368664,;TUBE1,downstream_gene_variant,,ENST00000603651,;TUBE1,downstream_gene_variant,,ENST00000605457,;	981-982	104	113	SUCCESS
TRDN	10345	.	GRCh37	6	123837283	123837283	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	122	0	ENST00000334268.4:c.550+3A>G		p.X184_splice	ENST00000334268		184		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55053.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATACCTT	NONE	.	.	.	.	.	ENSP00000381240	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	LOW	6/40	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,splice_region_variant,,ENST00000398178,;TRDN,splice_region_variant,,ENST00000334268,;TRDN,splice_region_variant,,ENST00000546248,;TRDN,splice_region_variant,,ENST00000361029,;	.	122	86	SUCCESS
SHPRH	257218	.	GRCh37	6	146276072	146276072	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	131	0	ENST00000275233.7:c.387A>C	p.Leu129Phe	p.L129F	ENST00000275233		129	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS43513.2	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATTAAACT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552	.	.	ENSP00000356475	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	tolerated_low_confidence(0.29)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.Leu129Phe,ENST00000275233,;SHPRH,missense_variant,p.Leu129Phe,ENST00000438092,;SHPRH,missense_variant,p.Leu129Phe,ENST00000367505,;SHPRH,missense_variant,p.Leu129Phe,ENST00000367503,;SHPRH,missense_variant,p.Leu107Phe,ENST00000433355,;SHPRH,intron_variant,,ENST00000519632,;SHPRH,upstream_gene_variant,,ENST00000521977,;	652	131	99	SUCCESS
SYNE1	23345	.	GRCh37	6	152489254	152489255	+	intron_variant	Intron	INS	-	-	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	55	0	ENST00000367255.5:c.23628-3795dup		p.*7876*	ENST00000367255	NM_182961.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5236.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTGACATCG	NONE	.	.	.	.	.	ENSP00000356224	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODIFIER	130/145	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	insertion	SYNE1,frameshift_variant,p.Val29GlyfsTer18,ENST00000539504,;SYNE1,frameshift_variant,p.Val29GlyfsTer18,ENST00000354674,;SYNE1,intron_variant,,ENST00000356820,;SYNE1,intron_variant,,ENST00000423061,;SYNE1,intron_variant,,ENST00000367251,;SYNE1,intron_variant,,ENST00000367257,;SYNE1,intron_variant,,ENST00000448038,;SYNE1,intron_variant,,ENST00000367255,;SYNE1,intron_variant,,ENST00000341594,;SYNE1,intron_variant,,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,intron_variant,,ENST00000536990,;SYNE1,intron_variant,,ENST00000347037,;SYNE1,intron_variant,,ENST00000367256,;SYNE1,intron_variant,,ENST00000409694,;	.	55	60	SUCCESS
SYNE1	23345	.	GRCh37	6	152793449	152793449	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	100	0	ENST00000367255.5:c.1450G>T	p.Asp484Tyr	p.D484Y	ENST00000367255	NM_182961.3	484	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5236.2	1450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTCCTCTA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	15/146	.	.	.	.	.	.	.	.	.	15/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Asp484Tyr,ENST00000466159,;SYNE1,missense_variant,p.Asp491Tyr,ENST00000423061,;SYNE1,missense_variant,p.Asp467Tyr,ENST00000537750,;SYNE1,missense_variant,p.Asp484Tyr,ENST00000367255,;SYNE1,missense_variant,p.Asp484Tyr,ENST00000413186,;SYNE1,missense_variant,p.Asp491Tyr,ENST00000341594,;SYNE1,missense_variant,p.Asp474Tyr,ENST00000367248,;SYNE1,missense_variant,p.Asp51Tyr,ENST00000495090,;SYNE1,missense_variant,p.Asp491Tyr,ENST00000448038,;SYNE1,missense_variant,p.Asp484Tyr,ENST00000367253,;SYNE1,missense_variant,p.Asp484Tyr,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000535896,;SYNE1,upstream_gene_variant,,ENST00000481502,;SYNE1,missense_variant,p.Asp50Tyr,ENST00000474655,;SYNE1,non_coding_transcript_exon_variant,,ENST00000468937,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	2052	100	99	SUCCESS
C6orf118	168090	.	GRCh37	6	165715430	165715430	+	synonymous_variant	Silent	SNP	C	C	A	rs202048007	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	62	0	ENST00000230301.8:c.381G>T	p.Pro127=	p.P127=	ENST00000230301	NM_144980.3	127	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5288.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCGGGGT	NONE	.	.	.	.	.	ENSP00000230301	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,synonymous_variant,p.%3D,ENST00000543069,;C6orf118,synonymous_variant,p.%3D,ENST00000230301,;	402	62	45	SUCCESS
TFAP2B	7021	.	GRCh37	6	50810840	50810840	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	35	276	1	ENST00000393655.3:c.1118A>G	p.Gln373Arg	p.Q373R	ENST00000393655	NM_003221.3	373	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4934.2	1118	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCAGGACC	NONE	.	.	hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812,Pfam_domain:PF03299	.	.	ENSP00000377265	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000393655	Transcript	.	.	ENSG00000008196	11743	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	AP2B_HUMAN	TFAP2B	HGNC	A8K557_HUMAN	.	UPI000020DE90	SNV	TFAP2B,missense_variant,p.Gln373Arg,ENST00000393655,;TFAP2B,missense_variant,p.Gln382Arg,ENST00000263046,;	1287	278	234	SUCCESS
DST	667	.	GRCh37	6	56480793	56480793	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	114	0	ENST00000244364.6:c.3319-1511A>C		p.*1107*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47443.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGATCAATT	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	22/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Asp2491Ala,ENST00000370765,;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000522360,;	.	114	78	SUCCESS
EYS	346007	.	GRCh37	6	66200596	66200596	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs758660747	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	315	74	417	0	ENST00000370616.2:c.753G>C	p.Lys251Asn	p.K251N	ENST00000370616		251	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS47445.1	753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCTTTCC	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	5/43	.	.	.	.	.	.	.	.	rs758660747,COSM365354,COSM1081062,COSM4139300,COSM1081063,COSM4139301,COSM365355	5/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1,1	.	.	benign(0.107)	.	tolerated(0.5)	0,1,1,1,1,1,1	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Lys251Asn,ENST00000342421,;EYS,missense_variant,p.Lys251Asn,ENST00000393380,;EYS,missense_variant,p.Lys251Asn,ENST00000370616,;EYS,missense_variant,p.Lys251Asn,ENST00000503581,;EYS,missense_variant,p.Lys251Asn,ENST00000370621,;EYS,missense_variant,p.Lys251Asn,ENST00000370618,;EYS,3_prime_UTR_variant,,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;	1291	417	389	SUCCESS
COL19A1	1310	.	GRCh37	6	70890393	70890393	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201916147	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	19	111	0	ENST00000322773.4:c.2753C>A	p.Pro918Gln	p.P918Q	ENST00000322773	NM_001858.4	918	cCa/cAa	0	.	A:0	.	A:0	.	A	P/Q	protein_coding	YES	CCDS4970.1	2753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCAGAAG	NONE	byCluster|by1000G	.	Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	A:0	.	ENSP00000316030	A:0.001	44/51	.	.	.	.	.	.	.	.	rs201916147,COSM3629297	44/51	PASS	ENST00000322773	Transcript	.	A:0.0002	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	A:0	tolerated(0.23)	0,1	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Pro918Gln,ENST00000322773,;COL19A1,missense_variant,p.Pro540Gln,ENST00000393344,;	2855	111	105	SUCCESS
EPDR1	54749	.	GRCh37	7	37960698	37960698	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs913532789	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	50	0	ENST00000199448.4:c.157G>A	p.Val53Ile	p.V53I	ENST00000199448	NM_017549.4	53	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS5454.2	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGTTATG	NONE	.	.	hmmpanther:PTHR10697:SF1,hmmpanther:PTHR10697,SMART_domains:SM00026,Prints_domain:PR00317	.	.	ENSP00000199448	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000199448	Transcript	.	.	ENSG00000086289	17572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.08)	.	EPDR1_HUMAN	EPDR1	HGNC	D6RIH7_HUMAN	.	UPI000012EF12	SNV	EPDR1,missense_variant,p.Val173Ile,ENST00000559325,;EPDR1,missense_variant,p.Val53Ile,ENST00000199448,;EPDR1,missense_variant,p.Val53Ile,ENST00000423717,;SFRP4,intron_variant,,ENST00000447200,;EPDR1,intron_variant,,ENST00000476620,;EPDR1,upstream_gene_variant,,ENST00000425345,;SFRP4,upstream_gene_variant,,ENST00000436072,;	536	50	40	SUCCESS
DDX56	54606	.	GRCh37	7	44613544	44613544	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs761331041	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	88	0	ENST00000258772.5:c.-50C>T		p.*17*	ENST00000258772	NM_001257189.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5492.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGACGCG	NONE	byFrequency	.	.	.	.	ENSP00000258772	.	1/14	.	.	.	.	.	.	.	.	rs761331041	1/14	PASS	ENST00000258772	Transcript	.	.	ENSG00000136271	18193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX56_HUMAN	DDX56	HGNC	G3V0G3_HUMAN	.	UPI0000037BB1	SNV	DDX56,5_prime_UTR_variant,,ENST00000258772,;TMED4,downstream_gene_variant,,ENST00000289577,;TMED4,downstream_gene_variant,,ENST00000457408,;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,upstream_gene_variant,,ENST00000431640,;DDX56,upstream_gene_variant,,ENST00000485367,;DDX56,upstream_gene_variant,,ENST00000467318,;DDX56,5_prime_UTR_variant,,ENST00000421223,;DDX56,upstream_gene_variant,,ENST00000446987,;DDX56,upstream_gene_variant,,ENST00000473924,;DDX56,upstream_gene_variant,,ENST00000479440,;DDX56,upstream_gene_variant,,ENST00000433257,;DDX56,upstream_gene_variant,,ENST00000415758,;	58	88	76	SUCCESS
CSMD3	114788	.	GRCh37	8	113363436	113363436	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768567576	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	12	116	0	ENST00000297405.5:c.6293G>T	p.Arg2098Ile	p.R2098I	ENST00000297405	NM_198123.1	2098	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS6315.1	6293	MUTECT|MUSE	.	ATCTTCTTACA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	40/71	.	.	.	.	.	.	.	.	rs768567576	40/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.53)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Arg2028Ile,ENST00000352409,;CSMD3,missense_variant,p.Arg1994Ile,ENST00000455883,;CSMD3,missense_variant,p.Arg2098Ile,ENST00000297405,;CSMD3,missense_variant,p.Arg1368Ile,ENST00000339701,;CSMD3,missense_variant,p.Arg2058Ile,ENST00000343508,;	6538	116	176	SUCCESS
CSMD3	114788	.	GRCh37	8	113697827	113697827	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	20	94	0	ENST00000297405.5:c.2290A>G	p.Asn764Asp	p.N764D	ENST00000297405	NM_198123.1	764	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS6315.1	2290	RADIA|MUTECT|MUSE|VARSCANS	.	GTCATTGAAAG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	15/71	.	.	.	.	.	.	.	.	.	15/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Asn764Asp,ENST00000352409,;CSMD3,missense_variant,p.Asn660Asp,ENST00000455883,;CSMD3,missense_variant,p.Asn764Asp,ENST00000297405,;CSMD3,missense_variant,p.Asn104Asp,ENST00000339701,;CSMD3,missense_variant,p.Asn724Asp,ENST00000343508,;	2535	94	142	SUCCESS
TG	7038	.	GRCh37	8	133941375	133941375	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	81	0	ENST00000220616.4:c.4754C>A	p.Ala1585Asp	p.A1585D	ENST00000220616	NM_003235.4	1585	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS34944.1	4754	MUTECT|MUSE|VARSCANS	.	CAATGCTCCTG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(1)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Ala1585Asp,ENST00000220616,;TG,missense_variant,p.Ala1528Asp,ENST00000377869,;TG,missense_variant,p.Ala19Asp,ENST00000542445,;TG,missense_variant,p.Ala105Asp,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;	4794	81	126	SUCCESS
SCRIB	23513	.	GRCh37	8	144887556	144887556	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs994549931	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	27	0	ENST00000320476.3:c.2396C>T	p.Ala799Val	p.A799V	ENST00000320476	NM_015356.4	799	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6412.1	2396	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCCTCC	NONE	.	.	PROSITE_profiles:PS50106,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000349486	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.833)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Ala718Val,ENST00000377533,;SCRIB,missense_variant,p.Ala799Val,ENST00000356994,;SCRIB,missense_variant,p.Ala96Val,ENST00000531942,;SCRIB,missense_variant,p.Ala799Val,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000526832,;	2403	27	50	SUCCESS
HRSP12	0	.	GRCh37	8	99129330	99129330	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	62	0	ENST00000254878.3:c.-6T>G		p.*2*	ENST00000254878	NM_005836.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6276.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTAAGCCTT	NONE	.	.	.	.	.	ENSP00000254878	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000254878	Transcript	.	.	ENSG00000132541	16897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UK114_HUMAN	HRSP12	HGNC	.	.	UPI0000137B27	SNV	HRSP12,missense_variant,p.Leu24Arg,ENST00000521560,;HRSP12,missense_variant,p.Leu4Arg,ENST00000520507,;HRSP12,5_prime_UTR_variant,,ENST00000254878,;POP1,upstream_gene_variant,,ENST00000401707,;POP1,upstream_gene_variant,,ENST00000522319,;POP1,upstream_gene_variant,,ENST00000349693,;HRSP12,non_coding_transcript_exon_variant,,ENST00000519155,;HRSP12,5_prime_UTR_variant,,ENST00000522791,;	140	62	79	SUCCESS
FBXW5	54461	.	GRCh37	9	139837919	139837919	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	84	0	ENST00000325285.3:c.233A>G	p.Asp78Gly	p.D78G	ENST00000325285	NM_018998.3	78	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7014.1	233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGTCATAC	NONE	.	.	hmmpanther:PTHR20995,hmmpanther:PTHR20995:SF15,Gene3D:1.20.1280.50,Superfamily_domains:SSF50978	.	.	ENSP00000313034	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000325285	Transcript	.	.	ENSG00000159069	13613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.593)	.	tolerated(0.27)	.	FBXW5_HUMAN	FBXW5	HGNC	.	.	UPI000006EC75	SNV	FBXW5,missense_variant,p.Asp78Gly,ENST00000443788,;FBXW5,missense_variant,p.Asp78Gly,ENST00000325285,;FBXW5,missense_variant,p.Asp78Gly,ENST00000428398,;FBXW5,upstream_gene_variant,,ENST00000433269,;C8G,upstream_gene_variant,,ENST00000224181,;C8G,upstream_gene_variant,,ENST00000371634,;FBXW5,non_coding_transcript_exon_variant,,ENST00000483559,;FBXW5,non_coding_transcript_exon_variant,,ENST00000491246,;FBXW5,non_coding_transcript_exon_variant,,ENST00000480818,;FBXW5,non_coding_transcript_exon_variant,,ENST00000459905,;C8G,upstream_gene_variant,,ENST00000465773,;C8G,upstream_gene_variant,,ENST00000484376,;FBXW5,upstream_gene_variant,,ENST00000487794,;	313	84	76	SUCCESS
FOCAD	54914	.	GRCh37	9	20821034	20821034	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	65	0	ENST00000338382.6:c.1757C>G	p.Ala586Gly	p.A586G	ENST00000338382		586	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS34993.1	1757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGCAAAAG	NONE	.	.	Pfam_domain:PF12530,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4	.	.	ENSP00000369599	.	16/46	.	.	.	.	.	.	.	.	.	16/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.01)	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,missense_variant,p.Ala586Gly,ENST00000380249,;FOCAD,missense_variant,p.Ala22Gly,ENST00000605086,;FOCAD,missense_variant,p.Ala586Gly,ENST00000338382,;FOCAD,non_coding_transcript_exon_variant,,ENST00000603492,;FOCAD,upstream_gene_variant,,ENST00000603844,;FOCAD,missense_variant,p.Ala22Gly,ENST00000603648,;	2121	65	68	SUCCESS
FAM205B	0	.	GRCh37	9	34835935	34835935	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	31	111	0	ENST00000399773.6:n.366T>C		p.*122*	ENST00000399773				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCATTCTC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	366	111	149	SUCCESS
WNK2	65268	.	GRCh37	9	96061396	96061396	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	83	0	ENST00000297954.4:c.6079G>A	p.Ala2027Thr	p.A2027T	ENST00000297954	NM_001282394.1	2027	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	6079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGCCCAA	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Ala1602Thr,ENST00000427277,;WNK2,missense_variant,p.Ala1639Thr,ENST00000349097,;WNK2,missense_variant,p.Ala1986Thr,ENST00000432730,;WNK2,missense_variant,p.Ala2027Thr,ENST00000297954,;WNK2,missense_variant,p.Ala512Thr,ENST00000453718,;WNK2,missense_variant,p.Ala787Thr,ENST00000448251,;WNK2,missense_variant,p.Ala1990Thr,ENST00000395477,;WNK2,coding_sequence_variant,,ENST00000356055,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,intron_variant,,ENST00000411624,;WNK2,intron_variant,,ENST00000474009,;WNK2,intron_variant,,ENST00000479696,;	6079	83	63	SUCCESS
DMD	1756	.	GRCh37	X	32536160	32536160	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1557396632	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	118	257	0	ENST00000357033.4:c.2257G>T	p.Glu753Ter	p.E753*	ENST00000357033	NM_004007.2	753	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14233.1	2257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCCTTCC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	18/79	.	.	.	.	.	.	.	.	DMD:c.2257G>T,COSM1557765,COSM1132321,COSM1557766,COSM1557767,COSM1132323	18/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,stop_gained,p.Glu753Ter,ENST00000357033,;DMD,stop_gained,p.Glu749Ter,ENST00000378677,;DMD,stop_gained,p.Glu745Ter,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	2464	257	299	SUCCESS
PABPC5	140886	.	GRCh37	X	90690668	90690668	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	71	0	ENST00000312600.3:c.92A>G	p.Glu31Gly	p.E31G	ENST00000312600	NM_080832.2	31	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14460.1	92	MUTECT|MUSE	.	CACCGAGGACA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF241,hmmpanther:PTHR24011,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,missense_variant,p.Glu31Gly,ENST00000312600,;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	306	71	61	SUCCESS
KAT6B	23522	.	GRCh37	10	76789169	76789169	+	synonymous_variant	Silent	SNP	G	G	A	rs765058663	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	47	152	0	ENST00000287239.4:c.4587G>A	p.Glu1529=	p.E1529=	ENST00000287239	NM_001256468.1	1529	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7345.1	4587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAGGGAAA	NONE	.	.	hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615	.	.	ENSP00000287239	.	18/18	.	.	.	.	.	.	.	.	rs765058663	18/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	SNV	KAT6B,synonymous_variant,p.%3D,ENST00000372711,;KAT6B,synonymous_variant,p.%3D,ENST00000372714,;KAT6B,synonymous_variant,p.%3D,ENST00000372725,;KAT6B,synonymous_variant,p.%3D,ENST00000372724,;KAT6B,synonymous_variant,p.%3D,ENST00000287239,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;KAT6B,downstream_gene_variant,,ENST00000490365,;	5076	152	130	SUCCESS
LRIT1	26103	.	GRCh37	10	85992484	85992484	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	117	0	ENST00000372105.3:c.1071C>G	p.Ser357Arg	p.S357R	ENST00000372105	NM_015613.2	357	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS7373.1	1071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGCTCCC	NONE	.	.	hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367	.	.	ENSP00000361177	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.3)	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Ser357Arg,ENST00000372105,;	1093	117	90	SUCCESS
IDE	3416	.	GRCh37	10	94250296	94250296	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1372524227	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	9	90	0	ENST00000265986.6:c.1487A>G	p.Tyr496Cys	p.Y496C	ENST00000265986	NM_004969.3	496	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7421.1	1487	MUTECT|MUSE|VARSCANS	.	TTCCATACCAC	NONE	.	.	Superfamily_domains:SSF63411,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	.	.	ENSP00000265986	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,missense_variant,p.Tyr496Cys,ENST00000265986,;IDE,5_prime_UTR_variant,,ENST00000371581,;IDE,non_coding_transcript_exon_variant,,ENST00000492362,;IDE,non_coding_transcript_exon_variant,,ENST00000496903,;IDE,3_prime_UTR_variant,,ENST00000478361,;	1544	90	91	SUCCESS
TLL2	7093	.	GRCh37	10	98133500	98133500	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141213956	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	82	0	ENST00000357947.3:c.2515G>A	p.Gly839Arg	p.G839R	ENST00000357947	NM_012465.3	839	Ggg/Agg	0	T:0.0002	.	.	.	.	T	G/R	protein_coding	YES	CCDS7449.1	2515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCGTCAT	NONE	byCluster	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF49854	.	T:0	ENSP00000350630	.	19/21	.	.	.	.	.	.	.	.	rs141213956	19/21	PASS	ENST00000357947	Transcript	.	.	ENSG00000095587	11844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TLL2_HUMAN	TLL2	HGNC	.	.	UPI0000073AEE	SNV	TLL2,missense_variant,p.Gly839Arg,ENST00000357947,;TLL2,non_coding_transcript_exon_variant,,ENST00000506028,;	2741	82	64	SUCCESS
GRIA4	2893	.	GRCh37	11	105775994	105775994	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	86	0	ENST00000282499.5:c.1125T>G	p.Asp375Glu	p.D375E	ENST00000282499	NM_000829.3	375	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS8333.1	1125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATGTGTT	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.190.10,Superfamily_domains:SSF53822	.	.	ENSP00000282499	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.22)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Asp375Glu,ENST00000282499,;GRIA4,missense_variant,p.Asp375Glu,ENST00000530497,;GRIA4,missense_variant,p.Asp375Glu,ENST00000393127,;GRIA4,missense_variant,p.Asp375Glu,ENST00000525187,;GRIA4,missense_variant,p.Asp375Glu,ENST00000428631,;GRIA4,missense_variant,p.Asp375Glu,ENST00000393125,;GRIA4,downstream_gene_variant,,ENST00000527687,;	1571	86	82	SUCCESS
ELP4	26610	.	GRCh37	11	31669307	31669307	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764805051	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	171	0	ENST00000350638.5:c.946C>T	p.Arg316Cys	p.R316C	ENST00000350638	NM_019040.3	316	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7875.2	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCGTGTC	NONE	byFrequency	.	hmmpanther:PTHR12896:SF1,hmmpanther:PTHR12896,Pfam_domain:PF05625	.	.	ENSP00000298937	.	8/10	.	.	.	.	.	.	.	.	rs764805051	8/10	PASS	ENST00000350638	Transcript	.	.	ENSG00000109911	1171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	ELP4_HUMAN	ELP4	HGNC	Q9H4R8_HUMAN	.	UPI0000074047	SNV	ELP4,missense_variant,p.Arg317Cys,ENST00000379163,;ELP4,missense_variant,p.Arg316Cys,ENST00000395934,;ELP4,missense_variant,p.Arg316Cys,ENST00000350638,;Z83001.1,intron_variant,,ENST00000429821,;ELP4,3_prime_UTR_variant,,ENST00000474374,;	981	171	135	SUCCESS
RNH1	6050	.	GRCh37	11	499113	499113	+	synonymous_variant	Silent	SNP	G	G	A	rs1351482088	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	95	0	ENST00000354420.2:c.516C>T	p.Phe172=	p.F172=	ENST00000354420	NM_203387.2	172	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS7697.1	516	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTGAAGTC	NONE	.	.	hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF30,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047,Superfamily_domains:SSF52047	.	.	ENSP00000433999	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000534797	Transcript	.	.	ENSG00000023191	10074	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RINI_HUMAN	RNH1	HGNC	E9PR82_HUMAN,E9PMJ3_HUMAN,E9PMI1_HUMAN,E9PLZ3_HUMAN,E9PIM9_HUMAN	.	UPI0000000DE4	SNV	RNH1,synonymous_variant,p.%3D,ENST00000533410,;RNH1,synonymous_variant,p.%3D,ENST00000397614,;RNH1,synonymous_variant,p.%3D,ENST00000397604,;RNH1,synonymous_variant,p.%3D,ENST00000438658,;RNH1,synonymous_variant,p.%3D,ENST00000397615,;RNH1,synonymous_variant,p.%3D,ENST00000356187,;RNH1,synonymous_variant,p.%3D,ENST00000529306,;RNH1,synonymous_variant,p.%3D,ENST00000354420,;RNH1,synonymous_variant,p.%3D,ENST00000529368,;RNH1,synonymous_variant,p.%3D,ENST00000534797,;RNH1,synonymous_variant,p.%3D,ENST00000527485,;RNH1,upstream_gene_variant,,ENST00000529768,;RNH1,downstream_gene_variant,,ENST00000532055,;RNH1,downstream_gene_variant,,ENST00000531149,;RNH1,downstream_gene_variant,,ENST00000531540,;RNH1,downstream_gene_variant,,ENST00000526295,;RNH1,downstream_gene_variant,,ENST00000533592,;RNH1,missense_variant,p.Ser147Leu,ENST00000529115,;RNH1,3_prime_UTR_variant,,ENST00000525701,;RNH1,non_coding_transcript_exon_variant,,ENST00000525522,;RNH1,intron_variant,,ENST00000524464,;RNH1,downstream_gene_variant,,ENST00000528713,;RNH1,downstream_gene_variant,,ENST00000524780,;RNH1,downstream_gene_variant,,ENST00000531223,;	1924	95	75	SUCCESS
OR4A5	81318	.	GRCh37	11	51411980	51411980	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757446757	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	6	142	0	ENST00000319760.6:c.416G>T	p.Cys139Phe	p.C139F	ENST00000319760	NM_001005272.3	139	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31497.1	416	MUTECT|MUSE	.	GGAAGCAAACC	BUFFER|p.R136*|c.406C>T|3	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF299,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000367664	.	1/1	.	.	.	.	.	.	.	.	rs757446757	1/1	PASS	ENST00000319760	Transcript	.	.	ENSG00000221840	15162	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.925)	.	deleterious_low_confidence(0)	.	OR4A5_HUMAN	OR4A5	HGNC	.	.	UPI0000041D58	SNV	OR4A5,missense_variant,p.Cys139Phe,ENST00000319760,;	469	142	143	SUCCESS
TRIM6-TRIM34	445372	.	GRCh37	11	5653572	5653572	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	122	0	ENST00000354852.5:c.1073A>G	p.Lys358Arg	p.K358R	ENST00000354852	NM_001003819.3	358	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS31391.1	11	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAAAATCT	NONE	.	.	Superfamily_domains:SSF57850,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF51	.	.	ENSP00000422947	.	2/8	.	.	.	.	.	.	.	.	COSM304232,COSM304231	2/8	PASS	ENST00000514226	Transcript	.	.	ENSG00000258659	10063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.097)	.	tolerated(0.25)	1,1	TRI34_HUMAN	TRIM34	HGNC	.	.	UPI000006F93F	SNV	TRIM34,missense_variant,p.Lys4Arg,ENST00000514226,;TRIM34,missense_variant,p.Lys4Arg,ENST00000429814,;TRIM6-TRIM34,missense_variant,p.Lys4Arg,ENST00000457787,;TRIM6-TRIM34,missense_variant,p.Lys358Arg,ENST00000354852,;HBG2,intron_variant,,ENST00000380259,;TRIM34,upstream_gene_variant,,ENST00000495668,;TRIM34,non_coding_transcript_exon_variant,,ENST00000491385,;	348	122	115	SUCCESS
CCDC89	220388	.	GRCh37	11	85396947	85396947	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	55	0	ENST00000316398.3:c.227T>C	p.Leu76Pro	p.L76P	ENST00000316398	NM_152723.1	76	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8270.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGAGCTGG	NONE	.	.	.	.	.	ENSP00000320649	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316398	Transcript	.	.	ENSG00000179071	26762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CCD89_HUMAN	CCDC89	HGNC	.	.	UPI000000DAB1	SNV	CCDC89,missense_variant,p.Leu76Pro,ENST00000316398,;CREBZF,upstream_gene_variant,,ENST00000534224,;CREBZF,upstream_gene_variant,,ENST00000531515,;	374	55	60	SUCCESS
ANO4	121601	.	GRCh37	12	101381339	101381339	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	100	0	ENST00000392977.3:c.625T>C	p.Phe209Leu	p.F209L	ENST00000392977	NM_001286615.1	209	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS31884.1	520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTTTCGG	BUFFER|p.R175W|c.523C>T|3	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.54)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Phe209Leu,ENST00000392977,;ANO4,missense_variant,p.Phe174Leu,ENST00000392979,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,3_prime_UTR_variant,,ENST00000538618,;ANO4,non_coding_transcript_exon_variant,,ENST00000549234,;ANO4,3_prime_UTR_variant,,ENST00000549155,;	881	100	76	SUCCESS
AACS	65985	.	GRCh37	12	125549953	125549953	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	23	0	ENST00000316519.6:c.-178G>C		p.*60*	ENST00000316519	NM_023928.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9263.1	.	MUTECT|MUSE	.	CAAGCGGCCCG	NONE	.	.	.	.	.	ENSP00000324842	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000316519	Transcript	.	.	ENSG00000081760	21298	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AACS_HUMAN	AACS	HGNC	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN	.	UPI0000049787	SNV	AACS,5_prime_UTR_variant,,ENST00000316519,;AACS,upstream_gene_variant,,ENST00000261686,;AACS,upstream_gene_variant,,ENST00000536752,;AACS,upstream_gene_variant,,ENST00000418937,;	29	23	12	SUCCESS
PDE3A	5139	.	GRCh37	12	20799827	20799827	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	43	174	0	ENST00000359062.3:c.2508C>A	p.His836Gln	p.H836Q	ENST00000359062	NM_001244683.1	836	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS31754.1	2508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCACGATTA	NONE	.	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347,PROSITE_patterns:PS00126,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000351957	.	12/16	.	.	.	.	.	.	.	.	COSM1289723	12/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.His836Gln,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	2548	174	150	SUCCESS
ALG10B	144245	.	GRCh37	12	38714365	38714365	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	172	0	ENST00000308742.4:c.772A>G	p.Ile258Val	p.I258V	ENST00000308742	NM_001013620.3	258	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31772.1	772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACATCCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12989:SF12,hmmpanther:PTHR12989,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810	.	.	ENSP00000310120	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308742	Transcript	.	.	ENSG00000175548	31088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.52)	.	AG10B_HUMAN	ALG10B	HGNC	.	.	UPI000013EDA4	SNV	ALG10B,missense_variant,p.Ile258Val,ENST00000308742,;ALG10B,intron_variant,,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,3_prime_UTR_variant,,ENST00000548240,;ALG10B,downstream_gene_variant,,ENST00000553138,;	1088	172	121	SUCCESS
OR9K2	441639	.	GRCh37	12	55523606	55523606	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	10	94	0	ENST00000305377.5:c.54A>G	p.Gln18=	p.Q18=	ENST00000305377	NM_001005243.1	18	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS31814.1	54	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAACAGGT	NONE	.	.	.	.	.	ENSP00000307598	.	1/1	.	.	.	.	.	.	.	.	COSM468623	1/1	PASS	ENST00000305377	Transcript	.	.	ENSG00000170605	15339	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	OR9K2_HUMAN	OR9K2	HGNC	.	.	UPI00003B287B	SNV	OR9K2,synonymous_variant,p.%3D,ENST00000305377,;	142	94	89	SUCCESS
STAT6	6778	.	GRCh37	12	57499293	57499293	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	100	0	ENST00000300134.3:c.770T>A	p.Leu257Gln	p.L257Q	ENST00000300134	NM_001178078.1	257	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS8931.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCAGCGAT	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF45,Gene3D:1bg1A01,Pfam_domain:PF01017,Superfamily_domains:SSF47655	.	.	ENSP00000300134	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000300134	Transcript	.	.	ENSG00000166888	11368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.01)	.	STAT6_HUMAN	STAT6	HGNC	Q6LCD8_HUMAN,Q5FBW6_HUMAN,G3V5K5_HUMAN,G3V568_HUMAN,G3V3E9_HUMAN,G3V370_HUMAN,G3V2X7_HUMAN,G3V2M3_HUMAN,G3V2L2_HUMAN,G3V2H4_HUMAN	.	UPI00000473FE	SNV	STAT6,missense_variant,p.Leu257Gln,ENST00000454075,;STAT6,missense_variant,p.Leu147Gln,ENST00000538913,;STAT6,missense_variant,p.Leu147Gln,ENST00000537215,;STAT6,missense_variant,p.Leu257Gln,ENST00000300134,;STAT6,missense_variant,p.Leu257Gln,ENST00000543873,;STAT6,missense_variant,p.Leu257Gln,ENST00000556155,;STAT6,downstream_gene_variant,,ENST00000555849,;STAT6,upstream_gene_variant,,ENST00000555375,;STAT6,upstream_gene_variant,,ENST00000553533,;STAT6,downstream_gene_variant,,ENST00000553397,;STAT6,downstream_gene_variant,,ENST00000553275,;STAT6,downstream_gene_variant,,ENST00000557635,;STAT6,downstream_gene_variant,,ENST00000556259,;STAT6,downstream_gene_variant,,ENST00000554825,;STAT6,downstream_gene_variant,,ENST00000553499,;STAT6,downstream_gene_variant,,ENST00000554663,;STAT6,3_prime_UTR_variant,,ENST00000554764,;STAT6,non_coding_transcript_exon_variant,,ENST00000555641,;STAT6,downstream_gene_variant,,ENST00000555104,;STAT6,upstream_gene_variant,,ENST00000557781,;STAT6,upstream_gene_variant,,ENST00000555222,;	1096	100	81	SUCCESS
TMEM260	54916	.	GRCh37	14	57046575	57046575	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	26	0	ENST00000261556.6:c.-58C>G		p.*20*	ENST00000261556	NM_017799.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9727.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCGTGTC	NONE	.	.	.	.	.	ENSP00000261556	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,5_prime_UTR_variant,,ENST00000261556,;TMEM260,5_prime_UTR_variant,,ENST00000536419,;TMEM260,intron_variant,,ENST00000556810,;TMEM260,upstream_gene_variant,,ENST00000538838,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556975,;TMEM260,5_prime_UTR_variant,,ENST00000555497,;TMEM260,5_prime_UTR_variant,,ENST00000539559,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,intron_variant,,ENST00000556422,;	65	26	20	SUCCESS
PPP1R36	145376	.	GRCh37	14	65053933	65053933	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	47	175	0	ENST00000298705.1:c.733T>G	p.Tyr245Asp	p.Y245D	ENST00000298705	NM_172365.1	245	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS9767.1	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACATATGTG	NONE	.	.	hmmpanther:PTHR21055,Pfam_domain:PF14895	.	.	ENSP00000298705	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000298705	Transcript	.	.	ENSG00000165807	20097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.01)	.	PPR36_HUMAN	PPP1R36	HGNC	G3V5S6_HUMAN,E9PLB5_HUMAN	.	UPI0000070446	SNV	PPP1R36,missense_variant,p.Tyr245Asp,ENST00000298705,;RP11-973N13.3,intron_variant,,ENST00000556634,;RP11-973N13.3,intron_variant,,ENST00000554454,;PPP1R36,3_prime_UTR_variant,,ENST00000467261,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000554400,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000556023,;	829	175	149	SUCCESS
SPTB	6710	.	GRCh37	14	65252487	65252487	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	65	0	ENST00000389721.5:c.3744G>C	p.Lys1248Asn	p.K1248N	ENST00000389721	NM_000347.5	1248	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS32099.1	3744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCTTCTC	NONE	.	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	.	.	ENSP00000374372	.	16/35	.	.	.	.	.	.	.	.	COSM1370620,COSM1370621	16/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	1,1	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,missense_variant,p.Lys1248Asn,ENST00000389721,;SPTB,missense_variant,p.Lys1248Asn,ENST00000556626,;SPTB,missense_variant,p.Lys1248Asn,ENST00000389722,;SPTB,missense_variant,p.Lys1248Asn,ENST00000542895,;SPTB,missense_variant,p.Lys1248Asn,ENST00000389720,;SPTB,upstream_gene_variant,,ENST00000553938,;	3798	65	69	SUCCESS
UNC13C	440279	.	GRCh37	15	54307145	54307145	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	46	174	0	ENST00000260323.11:c.2045G>C	p.Ser682Thr	p.S682T	ENST00000260323	NM_001080534.1	682	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS45264.1	2045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGTCTTT	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.07)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.Ser682Thr,ENST00000537900,;UNC13C,missense_variant,p.Ser682Thr,ENST00000545554,;UNC13C,missense_variant,p.Ser682Thr,ENST00000260323,;	2045	174	159	SUCCESS
NARG2	0	.	GRCh37	15	60715904	60715904	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	192	0	ENST00000261520.4:c.2878A>G	p.Lys960Glu	p.K960E	ENST00000261520	NM_024611.5	960	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS10176.1	2878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTTGGTTT	NONE	.	.	hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633	.	.	ENSP00000261520	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000261520	Transcript	.	.	ENSG00000128915	29885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.04)	.	NARG2_HUMAN	NARG2	HGNC	H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN	.	UPI00001A828C	SNV	NARG2,missense_variant,p.Lys960Glu,ENST00000261520,;NARG2,missense_variant,p.Lys823Glu,ENST00000439632,;NARG2,non_coding_transcript_exon_variant,,ENST00000561124,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,non_coding_transcript_exon_variant,,ENST00000558121,;	3113	192	152	SUCCESS
ZWILCH	55055	.	GRCh37	15	66797616	66797616	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	15	0	ENST00000307897.5:c.-61T>A		p.*21*	ENST00000307897	NM_017975.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10219.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGTCGCCG	NONE	.	.	.	.	.	ENSP00000311429	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000307897	Transcript	.	.	ENSG00000174442	25468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZWILC_HUMAN	ZWILCH	HGNC	H3BSG1_HUMAN,H3BQ07_HUMAN,H3BPI7_HUMAN	.	UPI000013EC73	SNV	ZWILCH,5_prime_UTR_variant,,ENST00000307897,;ZWILCH,5_prime_UTR_variant,,ENST00000535141,;ZWILCH,5_prime_UTR_variant,,ENST00000446801,;RPL4,intron_variant,,ENST00000568588,;ZWILCH,upstream_gene_variant,,ENST00000565627,;RPL4,upstream_gene_variant,,ENST00000569438,;ZWILCH,upstream_gene_variant,,ENST00000564179,;RPL4,upstream_gene_variant,,ENST00000307961,;RPL4,upstream_gene_variant,,ENST00000569696,;SNORD16,upstream_gene_variant,,ENST00000362803,;SNORD18A,upstream_gene_variant,,ENST00000363753,;SNORD18C,upstream_gene_variant,,ENST00000362704,;SNORD18B,upstream_gene_variant,,ENST00000365659,;RPL4,non_coding_transcript_exon_variant,,ENST00000564517,;RPL4,upstream_gene_variant,,ENST00000563473,;ZWILCH,upstream_gene_variant,,ENST00000565960,;ZWILCH,upstream_gene_variant,,ENST00000564309,;ZWILCH,upstream_gene_variant,,ENST00000563698,;RPL4,upstream_gene_variant,,ENST00000567229,;RPL4,upstream_gene_variant,,ENST00000564744,;RPL4,upstream_gene_variant,,ENST00000566624,;ZWILCH,upstream_gene_variant,,ENST00000567926,;RPL4,upstream_gene_variant,,ENST00000561554,;RPL4,upstream_gene_variant,,ENST00000566622,;RPL4,upstream_gene_variant,,ENST00000566039,;RPL4,upstream_gene_variant,,ENST00000564439,;RPL4,upstream_gene_variant,,ENST00000564647,;RPL4,upstream_gene_variant,,ENST00000561775,;RPL4,upstream_gene_variant,,ENST00000566491,;	320	15	17	SUCCESS
HEXA	3073	.	GRCh37	15	72643416	72643416	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	37	0	ENST00000268097.5:c.672+58G>A		p.*224*	ENST00000268097	NM_000520.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10243.1	.	MUTECT|MUSE	.	CAGGGCCACAG	NONE	.	.	.	.	.	ENSP00000268097	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268097	Transcript	1	.	ENSG00000213614	4878	.	.	MODIFIER	6/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HEXA_HUMAN	HEXA	HGNC	H3BS10_HUMAN,G3XL83_HUMAN	.	UPI000013D798	SNV	HEXA,intron_variant,,ENST00000566304,;HEXA,intron_variant,,ENST00000268097,;HEXA,intron_variant,,ENST00000429918,;HEXA,intron_variant,,ENST00000567159,;HEXA,intron_variant,,ENST00000457859,;RP11-106M3.3,non_coding_transcript_exon_variant,,ENST00000570175,;HEXA,intron_variant,,ENST00000569509,;RP11-106M3.2,intron_variant,,ENST00000379915,;HEXA,intron_variant,,ENST00000563762,;HEXA,intron_variant,,ENST00000566672,;HEXA,intron_variant,,ENST00000568777,;HEXA,intron_variant,,ENST00000567411,;HEXA,intron_variant,,ENST00000567027,;HEXA,intron_variant,,ENST00000569410,;HEXA,downstream_gene_variant,,ENST00000563908,;HEXA,downstream_gene_variant,,ENST00000568260,;	.	37	45	SUCCESS
IL16	3603	.	GRCh37	15	81517759	81517759	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750324638	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	43	0	ENST00000302987.4:c.19G>T	p.Ala7Ser	p.A7S	ENST00000302987		7	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42069.1	19	MUTECT|MUSE	.	GCCGCGCTGGA	NONE	byFrequency	.	hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2	.	.	ENSP00000302935	.	1/18	.	.	.	.	.	.	.	.	rs750324638	1/18	PASS	ENST00000302987	Transcript	.	.	ENSG00000172349	5980	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.71)	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,missense_variant,p.Ala7Ser,ENST00000302987,;IL16,missense_variant,p.Ala7Ser,ENST00000394660,;IL16,missense_variant,p.Ala7Ser,ENST00000559383,;IL16,missense_variant,p.Ala7Ser,ENST00000559388,;IL16,missense_variant,p.Ala7Ser,ENST00000560241,;IL16,missense_variant,p.Ala7Ser,ENST00000360547,;	19	43	56	SUCCESS
SRCAP	10847	.	GRCh37	16	30720956	30720956	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	42	134	0	ENST00000262518.4:c.756C>T	p.Asn252=	p.N252=	ENST00000262518	NM_006662.2	252	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS10689.2	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACCAGCC	NONE	.	.	hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	.	ENSP00000262518	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,synonymous_variant,p.%3D,ENST00000262518,;SRCAP,synonymous_variant,p.%3D,ENST00000344771,;SRCAP,synonymous_variant,p.%3D,ENST00000395059,;SNORA30,upstream_gene_variant,,ENST00000384028,;SRCAP,synonymous_variant,p.%3D,ENST00000380361,;SRCAP,upstream_gene_variant,,ENST00000483083,;	1141	134	142	SUCCESS
SNTB2	6645	.	GRCh37	16	69333647	69333647	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	52	176	0	ENST00000336278.4:c.1500C>A	p.Tyr500Ter	p.Y500*	ENST00000336278	NM_006750.3	500	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS10873.1	1500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATACTTGGA	NONE	.	.	hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF8	.	.	ENSP00000338191	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000336278	Transcript	.	.	ENSG00000168807	11169	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNTB2_HUMAN	SNTB2	HGNC	.	.	UPI0000135B21	SNV	SNTB2,stop_gained,p.Tyr500Ter,ENST00000336278,;RP11-343C2.11,stop_gained,p.Tyr21Ter,ENST00000570054,;SNTB2,3_prime_UTR_variant,,ENST00000467311,;	1538	176	120	SUCCESS
ADAD2	161931	.	GRCh37	16	84228974	84228974	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749009923	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	29	92	0	ENST00000315906.5:c.806G>A	p.Cys269Tyr	p.C269Y	ENST00000315906	NM_001145400.1	269	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS10944.1	1052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGTGCTG	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000268624	.	6/11	.	.	.	.	.	.	.	.	rs749009923	6/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.46)	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,missense_variant,p.Cys269Tyr,ENST00000315906,;ADAD2,missense_variant,p.Cys178Tyr,ENST00000567685,;ADAD2,missense_variant,p.Cys351Tyr,ENST00000268624,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000569834,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564169,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;	1145	92	57	SUCCESS
ATP2C2	9914	.	GRCh37	16	84402191	84402191	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs761232764	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	190	0	ENST00000262429.4:c.-31G>C		p.*11*	ENST00000262429	NM_014861.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42207.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAGGGACG	NONE	byFrequency	.	.	.	.	ENSP00000262429	.	1/27	.	.	.	.	.	.	.	.	rs761232764	1/27	PASS	ENST00000262429	Transcript	.	.	ENSG00000064270	29103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2C2_HUMAN	ATP2C2	HGNC	.	.	UPI0000252110	SNV	ATP2C2,5_prime_UTR_variant,,ENST00000262429,;ATP2C2,5_prime_UTR_variant,,ENST00000416219,;	59	190	83	SUCCESS
FOXC2	2303	.	GRCh37	16	86600945	86600945	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	382	11	730	1	ENST00000320354.4:c.4C>A	p.Gln2Lys	p.Q2K	ENST00000320354	NM_005251.2	2	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS10958.1	4	MUTECT|MUSE	.	GCATGCAGGCG	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF143	.	.	ENSP00000326371	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320354	Transcript	.	.	ENSG00000176692	3801	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.465)	.	deleterious(0.01)	.	FOXC2_HUMAN	FOXC2	HGNC	I6YRR3_HUMAN	.	UPI000012ADC6	SNV	FOXC2,missense_variant,p.Gln2Lys,ENST00000320354,;RP11-463O9.5,intron_variant,,ENST00000563280,;	89	731	393	SUCCESS
ANKFY1	51479	.	GRCh37	17	4166988	4166988	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	14	0	ENST00000341657.4:c.10+239G>T		p.*4*	ENST00000341657	NM_016376.3	13		0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS58502.1	38	MUTECT|MUSE	.	CAGCCCGGCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000459943	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,missense_variant,p.Arg13Leu,ENST00000570535,;ANKFY1,intron_variant,,ENST00000433651,;ANKFY1,intron_variant,,ENST00000574367,;ANKFY1,intron_variant,,ENST00000341657,;ANKFY1,intron_variant,,ENST00000572412,;ANKFY1,intron_variant,,ENST00000575955,;	155	14	14	SUCCESS
MAPT	4137	.	GRCh37	17	44073847	44073847	+	synonymous_variant	Silent	SNP	G	G	A	rs201157234	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	29	128	0	ENST00000262410.5:c.1590G>A	p.Pro530=	p.P530=	ENST00000262410	NM_016835.4	530	ccG/ccA	0	.	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS45715.1	1644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGTCCCT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF14,Prints_domain:PR01261	A:0	.	ENSP00000340820	A:0	11/15	.	.	.	.	.	.	.	.	rs201157234	11/15	PASS	ENST00000344290	Transcript	.	A:0.0002	ENSG00000186868	6893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TAU_HUMAN	MAPT	HGNC	.	.	UPI0001AE66E9	SNV	MAPT,synonymous_variant,p.%3D,ENST00000334239,;MAPT,synonymous_variant,p.%3D,ENST00000340799,;MAPT,synonymous_variant,p.%3D,ENST00000262410,;MAPT,synonymous_variant,p.%3D,ENST00000446361,;MAPT,synonymous_variant,p.%3D,ENST00000574436,;MAPT,synonymous_variant,p.%3D,ENST00000571987,;MAPT,synonymous_variant,p.%3D,ENST00000415613,;MAPT,synonymous_variant,p.%3D,ENST00000535772,;MAPT,synonymous_variant,p.%3D,ENST00000576518,;MAPT,synonymous_variant,p.%3D,ENST00000420682,;MAPT,synonymous_variant,p.%3D,ENST00000351559,;MAPT,synonymous_variant,p.%3D,ENST00000344290,;MAPT,synonymous_variant,p.%3D,ENST00000431008,;MAPT,synonymous_variant,p.%3D,ENST00000347967,;STH,upstream_gene_variant,,ENST00000537309,;MAPT,non_coding_transcript_exon_variant,,ENST00000570299,;	1966	128	101	SUCCESS
BRIP1	83990	.	GRCh37	17	59857746	59857746	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	80	305	0	ENST00000259008.2:c.1811A>G	p.Asn604Ser	p.N604S	ENST00000259008	NM_032043.2	604	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS11631.1	1811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATTAATA	NONE	.	.	hmmpanther:PTHR11472:SF6,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604	.	.	ENSP00000259008	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000259008	Transcript	.	.	ENSG00000136492	20473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(1)	.	FANCJ_HUMAN	BRIP1	HGNC	J3KS24_HUMAN	.	UPI000013D01F	SNV	BRIP1,missense_variant,p.Asn604Ser,ENST00000259008,;BRIP1,missense_variant,p.Asn604Ser,ENST00000577598,;BRIP1,upstream_gene_variant,,ENST00000584322,;BRIP1,upstream_gene_variant,,ENST00000583837,;BRIP1,3_prime_UTR_variant,,ENST00000579028,;	2079	305	245	SUCCESS
GALR2	8811	.	GRCh37	17	74073440	74073440	+	synonymous_variant	Silent	SNP	C	C	T	rs759786129	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	13	0	ENST00000329003.3:c.1092C>T	p.Leu364=	p.L364=	ENST00000329003	NM_003857.2	364	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11739.1	1092	MUTECT|MUSE|VARSCANS	.	ATCCTCGAGCC	NONE	byFrequency	.	hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF13	.	.	ENSP00000329684	.	2/2	.	.	.	.	.	.	.	.	rs759786129	2/2	PASS	ENST00000329003	Transcript	.	.	ENSG00000182687	4133	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GALR2_HUMAN	GALR2	HGNC	.	.	UPI000004B247	SNV	GALR2,synonymous_variant,p.%3D,ENST00000329003,;ZACN,upstream_gene_variant,,ENST00000392503,;EXOC7,downstream_gene_variant,,ENST00000589210,;SRP68,upstream_gene_variant,,ENST00000307877,;SRP68,upstream_gene_variant,,ENST00000539137,;EXOC7,downstream_gene_variant,,ENST00000332065,;ZACN,upstream_gene_variant,,ENST00000334586,;SRP68,upstream_gene_variant,,ENST00000355113,;EXOC7,downstream_gene_variant,,ENST00000607838,;EXOC7,downstream_gene_variant,,ENST00000591724,;ZACN,intron_variant,,ENST00000591500,;SRP68,upstream_gene_variant,,ENST00000592704,;EXOC7,downstream_gene_variant,,ENST00000465252,;ZACN,upstream_gene_variant,,ENST00000421794,;SRP68,upstream_gene_variant,,ENST00000591272,;ZACN,upstream_gene_variant,,ENST00000590045,;ZACN,upstream_gene_variant,,ENST00000524242,;ZACN,upstream_gene_variant,,ENST00000425015,;	1182	13	20	SUCCESS
TP53	7157	.	GRCh37	17	7577126	7577126	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	103	0	ENST00000269305.4:c.812A>T	p.Glu271Val	p.E271V	ENST00000269305	NM_001126112.2	271	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS11118.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTCAAAG	SITE|p.E271V|c.812A>T|8,CODON|p.0?|c.1_1182del1182|6,CODON|p.E271G|c.812A>G|3,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273L|c.818G>T|98,BUFFER|p.R273P|c.818G>C|4,BUFFER|p.R273H|c.818G>A|116,BUFFER|p.R273H|c.818G>A|64,BUFFER|p.R273H|c.818G>A|588,BUFFER|p.R273L|c.818G>T|5,BUFFER|p.R273H|c.818G>A|83,BUFFER|p.R273P|c.818G>C|29,BUFFER|p.R273L|c.818G>T|18,BUFFER|p.R273L|c.818G>T|12,BUFFER|p.R273S|c.817C>A|4,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273S|c.817C>A|15,BUFFER|p.R273C|c.817C>T|59,BUFFER|p.V272E|c.815T>A|9,BUFFER|p.V272G|c.815T>G|7,BUFFER|p.V272A|c.815T>C|7,BUFFER|p.V272fs*73|c.814delG|3,BUFFER|p.V272L|c.814G>T|24,BUFFER|p.V272L|c.814G>T|4,BUFFER|p.V272M|c.814G>A|11,BUFFER|p.V272M|c.814G>A|84,BUFFER|p.V272M|c.814G>A|6,BUFFER|p.V272M|c.814G>A|22,BUFFER|p.V272L|c.814G>C|4,BUFFER|p.E271Q|c.811G>C|4,BUFFER|p.E271K|c.811G>A|35,BUFFER|p.E271*|c.811G>T|16,BUFFER|p.E271*|c.811G>T|3,BUFFER|p.E271K|c.811G>A|13,BUFFER|p.E271K|c.811G>A|4,BUFFER|p.E271K|c.811G>A|8,BUFFER|p.F270L|c.810T>G|4,BUFFER|p.F270L|c.810T>A|5,BUFFER|p.F270S|c.809T>C|3,BUFFER|p.F270Y|c.809T>A|5,BUFFER|p.F270C|c.809T>G|16,BUFFER|p.F270S|c.809T>C|3,BUFFER|p.F270S|c.809T>C|14,BUFFER|p.F270S|c.809T>C|6,BUFFER|p.F270L|c.808T>C|16,BUFFER|p.F270I|c.808T>A|3,BUFFER|p.F270V|c.808T>G|8,BUFFER|p.F270L|c.808T>C|3,BUFFER|p.F270I|c.808T>A|6,BUFFER|p.S269S|c.807C>T|3,BUFFER|p.S269N|c.806G>A|4,BUFFER|p.S269C|c.805A>T|4,BUFFER|p.S269G|c.805A>G|3,BUFFER|p.N268H|c.802A>C|3,BUFFER|p.R267R|c.801G>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM942136,TP53_g.13792A>G,TP53_g.13792A>C,TP53_g.13792A>T,COSM43879,COSM214520,COSM44469,COSM214521,COSM1610828,COSM3717628,COSM3717627	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,0,0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Glu271Val,ENST00000420246,;TP53,missense_variant,p.Glu271Val,ENST00000269305,;TP53,missense_variant,p.Glu139Val,ENST00000509690,;TP53,missense_variant,p.Glu271Val,ENST00000359597,;TP53,missense_variant,p.Glu271Val,ENST00000445888,;TP53,missense_variant,p.Glu271Val,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1002	103	70	SUCCESS
SALL3	27164	.	GRCh37	18	76753069	76753069	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	81	0	ENST00000537592.2:c.1078A>G	p.Ser360Gly	p.S360G	ENST00000537592	NM_171999.3	360	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS12013.1	1078	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAAGTCCG	BUFFER|p.L358L|c.1072C>T|6	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233	.	.	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,missense_variant,p.Ser227Gly,ENST00000536229,;SALL3,missense_variant,p.Ser360Gly,ENST00000537592,;SALL3,missense_variant,p.Ser360Gly,ENST00000575389,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	1078	81	54	SUCCESS
ZNF433	163059	.	GRCh37	19	12146498	12146498	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	66	0	ENST00000344980.6:c.-144T>G		p.*48*	ENST00000344980	NM_001080411.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45983.1	.	MUTECT|MUSE	.	AGGAGAGCAGG	NONE	.	.	.	.	.	ENSP00000339767	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344980	Transcript	.	.	ENSG00000197647	20811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN433_HUMAN	ZNF433	HGNC	F8W652_HUMAN,F8W0C9_HUMAN,F8VXJ9_HUMAN	.	UPI0000071556	SNV	ZNF433,5_prime_UTR_variant,,ENST00000344980,;ZNF433,5_prime_UTR_variant,,ENST00000411841,;ZNF433,5_prime_UTR_variant,,ENST00000550745,;ZNF433,5_prime_UTR_variant,,ENST00000550507,;ZNF433,5_prime_UTR_variant,,ENST00000419886,;ZNF433,upstream_gene_variant,,ENST00000552904,;ZNF433,upstream_gene_variant,,ENST00000547560,;ZNF433,upstream_gene_variant,,ENST00000455504,;CTD-2006C1.2,non_coding_transcript_exon_variant,,ENST00000591838,;CTD-2006C1.2,non_coding_transcript_exon_variant,,ENST00000476474,;CTD-2006C1.2,upstream_gene_variant,,ENST00000591898,;ZNF433,5_prime_UTR_variant,,ENST00000548669,;CTD-2006C1.2,non_coding_transcript_exon_variant,,ENST00000588047,;CTD-2006C1.10,intron_variant,,ENST00000547473,;	28	66	44	SUCCESS
MYO9B	4650	.	GRCh37	19	17322910	17322911	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	157	40	154	0	ENST00000594824.1:c.6266_6267del	p.Glu2089GlyfsTer110	p.E2089Gfs*110	ENST00000594824		2089	GAg/g	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46010.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCGGGAGGCGG	NONE	.	.	.	.	.	ENSP00000471457	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	deletion	MYO9B,frameshift_variant,p.Glu2089GlyfsTer110,ENST00000594824,;MYO9B,3_prime_UTR_variant,,ENST00000595618,;MYO9B,3_prime_UTR_variant,,ENST00000597073,;MYO9B,3_prime_UTR_variant,,ENST00000397274,;MYO9B,intron_variant,,ENST00000598419,;USE1,upstream_gene_variant,,ENST00000379776,;USE1,upstream_gene_variant,,ENST00000593597,;USE1,upstream_gene_variant,,ENST00000595101,;USE1,upstream_gene_variant,,ENST00000596136,;MYO9B,downstream_gene_variant,,ENST00000595641,;USE1,upstream_gene_variant,,ENST00000263897,;USE1,upstream_gene_variant,,ENST00000445667,;MYO9B,downstream_gene_variant,,ENST00000596942,;CTD-3032J10.3,upstream_gene_variant,,ENST00000601929,;USE1,upstream_gene_variant,,ENST00000594724,;USE1,upstream_gene_variant,,ENST00000594399,;MYO9B,downstream_gene_variant,,ENST00000597881,;MYO9B,downstream_gene_variant,,ENST00000597572,;USE1,upstream_gene_variant,,ENST00000601662,;USE1,upstream_gene_variant,,ENST00000600970,;USE1,upstream_gene_variant,,ENST00000601592,;	6429-6430	154	197	SUCCESS
VSTM2B	342865	.	GRCh37	19	30021060	30021060	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	15	0	ENST00000335523.7:c.632T>G	p.Ile211Ser	p.I211S	ENST00000335523	NM_001146339.1	211	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS46034.1	632	MUTECT|MUSE	.	CGCCATCGATC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000335038	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000335523	Transcript	.	.	ENSG00000187135	33595	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.77)	.	VTM2B_HUMAN	VSTM2B	HGNC	.	.	UPI00001D8158	SNV	VSTM2B,missense_variant,p.Ile211Ser,ENST00000335523,;CTC-525D6.1,upstream_gene_variant,,ENST00000582581,;CTC-525D6.2,upstream_gene_variant,,ENST00000579268,;CTC-525D6.1,upstream_gene_variant,,ENST00000577849,;	717	15	18	SUCCESS
LTBP4	8425	.	GRCh37	19	41114199	41114199	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	75	0	ENST00000308370.7:c.1431A>G	p.Arg477=	p.R477=	ENST00000308370	NM_001042544.1	477	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	.	1431	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGACCCCT	NONE	.	.	hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41	.	.	ENSP00000311905	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,synonymous_variant,p.%3D,ENST00000396819,;LTBP4,synonymous_variant,p.%3D,ENST00000204005,;LTBP4,synonymous_variant,p.%3D,ENST00000308370,;LTBP4,5_prime_UTR_variant,,ENST00000545697,;LTBP4,upstream_gene_variant,,ENST00000601032,;RN7SL758P,upstream_gene_variant,,ENST00000580450,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,upstream_gene_variant,,ENST00000601560,;LTBP4,upstream_gene_variant,,ENST00000598055,;LTBP4,downstream_gene_variant,,ENST00000599016,;LTBP4,upstream_gene_variant,,ENST00000595183,;LTBP4,downstream_gene_variant,,ENST00000594537,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595529,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,downstream_gene_variant,,ENST00000593738,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,upstream_gene_variant,,ENST00000546155,;	1431	75	72	SUCCESS
ARHGEF1	9138	.	GRCh37	19	42409114	42409114	+	synonymous_variant	Silent	SNP	C	C	T	rs1555849813	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	57	0	ENST00000354532.3:c.2175C>T	p.Phe725=	p.F725=	ENST00000354532	NM_004706.3	725	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS12590.1	2220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCTACGT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF6,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000337261	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000337665	Transcript	.	.	ENSG00000076928	681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG1_HUMAN	ARHGEF1	HGNC	.	.	UPI0000231C94	SNV	ARHGEF1,synonymous_variant,p.%3D,ENST00000599846,;ARHGEF1,synonymous_variant,p.%3D,ENST00000337665,;ARHGEF1,synonymous_variant,p.%3D,ENST00000599589,;ARHGEF1,synonymous_variant,p.%3D,ENST00000347545,;ARHGEF1,synonymous_variant,p.%3D,ENST00000354532,;ARHGEF1,synonymous_variant,p.%3D,ENST00000595723,;ARHGEF1,synonymous_variant,p.%3D,ENST00000378152,;ARHGEF1,downstream_gene_variant,,ENST00000594258,;ARHGEF1,downstream_gene_variant,,ENST00000594521,;CTD-2575K13.6,downstream_gene_variant,,ENST00000597630,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000595897,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600274,;ARHGEF1,intron_variant,,ENST00000600517,;ARHGEF1,upstream_gene_variant,,ENST00000598444,;ARHGEF1,upstream_gene_variant,,ENST00000593609,;ARHGEF1,downstream_gene_variant,,ENST00000594044,;ARHGEF1,upstream_gene_variant,,ENST00000598587,;CTD-2575K13.6,downstream_gene_variant,,ENST00000598387,;	2240	57	56	SUCCESS
KCNN4	3783	.	GRCh37	19	44273601	44273601	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	69	0	ENST00000262888.3:c.1042del	p.Ile348SerfsTer9	p.I348Sfs*9	ENST00000262888	NM_002250.2	348	Atc/tc	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS12630.1	1042	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTTGATGGCGG	NONE	.	.	hmmpanther:PTHR10153:SF4,hmmpanther:PTHR10153,Pfam_domain:PF02888,Gene3D:1.10.287.70,SMART_domains:SM01053,Superfamily_domains:SSF81327	.	.	ENSP00000262888	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000262888	Transcript	.	.	ENSG00000104783	6293	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNN4_HUMAN	KCNN4	HGNC	M0R2E8_HUMAN,M0QZ70_HUMAN	.	UPI0000000DF3	deletion	KCNN4,frameshift_variant,p.Ile348SerfsTer9,ENST00000262888,;KCNN4,frameshift_variant,p.His54LeufsTer4,ENST00000598836,;KCNN4,upstream_gene_variant,,ENST00000600909,;KCNN4,frameshift_variant,p.Ile111SerfsTer?,ENST00000600408,;KCNN4,3_prime_UTR_variant,,ENST00000599720,;KCNN4,non_coding_transcript_exon_variant,,ENST00000601549,;KCNN4,upstream_gene_variant,,ENST00000597184,;KCNN4,downstream_gene_variant,,ENST00000599107,;	1438	69	47	SUCCESS
GPR108	56927	.	GRCh37	19	6732365	6732365	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	56	0	ENST00000264080.7:c.1034C>G	p.Thr345Ser	p.T345S	ENST00000264080	NM_001080452.1	345	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS42479.1	1034	MUTECT|MUSE	.	CGATGGTGATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21229:SF11,hmmpanther:PTHR21229,Pfam_domain:PF06814	.	.	ENSP00000264080	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000264080	Transcript	.	.	ENSG00000125734	17829	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	GP108_HUMAN	GPR108	HGNC	Q96I30_HUMAN,M0QZ03_HUMAN,G5E9L6_HUMAN	.	UPI00001D8222	SNV	GPR108,missense_variant,p.Thr79Ser,ENST00000598955,;GPR108,missense_variant,p.Thr103Ser,ENST00000430424,;GPR108,missense_variant,p.Thr345Ser,ENST00000264080,;GPR108,downstream_gene_variant,,ENST00000597298,;GPR108,downstream_gene_variant,,ENST00000601716,;C3,upstream_gene_variant,,ENST00000600744,;GPR108,upstream_gene_variant,,ENST00000594500,;GPR108,upstream_gene_variant,,ENST00000594034,;GPR108,upstream_gene_variant,,ENST00000598626,;GPR108,upstream_gene_variant,,ENST00000537722,;GPR108,3_prime_UTR_variant,,ENST00000597706,;GPR108,3_prime_UTR_variant,,ENST00000595908,;GPR108,non_coding_transcript_exon_variant,,ENST00000600773,;GPR108,downstream_gene_variant,,ENST00000601402,;GPR108,downstream_gene_variant,,ENST00000597043,;GPR108,downstream_gene_variant,,ENST00000595620,;GPR108,downstream_gene_variant,,ENST00000595108,;GPR108,downstream_gene_variant,,ENST00000598052,;	1061	56	36	SUCCESS
DFFA	1676	.	GRCh37	1	10523666	10523666	+	synonymous_variant	Silent	SNP	G	G	A	rs12567730	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	56	0	ENST00000377038.3:c.453C>T	p.Asp151=	p.D151=	ENST00000377038	NM_004401.2	151	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS118.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGTCAAC	NONE	byFrequency|byCluster|byHapMap	.	hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF16,Pfam_domain:PF09033,PIRSF_domain:PIRSF037865	.	A:0.0001	ENSP00000366237	.	4/6	.	.	.	.	.	.	.	.	rs12567730	4/6	common_in_exac	ENST00000377038	Transcript	.	.	ENSG00000160049	2772	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFFA_HUMAN	DFFA	HGNC	.	.	UPI00001291FA	SNV	DFFA,synonymous_variant,p.%3D,ENST00000377036,;DFFA,synonymous_variant,p.%3D,ENST00000377038,;RP5-1113E3.3,downstream_gene_variant,,ENST00000424487,;DFFA,intron_variant,,ENST00000476658,;	521	56	63	SUCCESS
LCE5A	254910	.	GRCh37	1	152484138	152484138	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1557942462	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	7	174	0	ENST00000334269.2:c.128C>T	p.Pro43Leu	p.P43L	ENST00000334269	NM_178438.4	43	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1011.1	128	MUTECT|MUSE	.	AGCCCCATGCC	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00021,Pfam_domain:PF14672,hmmpanther:PTHR23263:SF31,hmmpanther:PTHR23263	.	.	ENSP00000333952	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334269	Transcript	.	.	ENSG00000186207	16614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.24)	.	LCE5A_HUMAN	LCE5A	HGNC	.	.	UPI00001615D7	SNV	LCE5A,missense_variant,p.Pro43Leu,ENST00000334269,;CRCT1,upstream_gene_variant,,ENST00000368790,;	304	174	203	SUCCESS
GON4L	54856	.	GRCh37	1	155823539	155823539	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	54	122	0	ENST00000368331.1:c.33G>T	p.Val11=	p.V11=	ENST00000368331	NM_001037533.1	11	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44242.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCACTGT	NONE	.	.	.	.	.	ENSP00000396117	.	2/32	.	.	.	.	.	.	.	.	.	2/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,synonymous_variant,p.%3D,ENST00000437809,;GON4L,synonymous_variant,p.%3D,ENST00000361040,;GON4L,synonymous_variant,p.%3D,ENST00000368331,;GON4L,synonymous_variant,p.%3D,ENST00000271883,;GON4L,non_coding_transcript_exon_variant,,ENST00000488251,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,upstream_gene_variant,,ENST00000468867,;	156	122	116	SUCCESS
FBXO42	54455	.	GRCh37	1	16621392	16621392	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	28	101	0	ENST00000375592.3:c.388A>G	p.Asn130Asp	p.N130D	ENST00000375592	NM_018994.1	130	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS30613.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATTAGCAT	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF250,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000364742	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.04)	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	SNV	FBXO42,missense_variant,p.Asn130Asp,ENST00000375592,;FBXO42,non_coding_transcript_exon_variant,,ENST00000478089,;	605	101	96	SUCCESS
FAM163A	148753	.	GRCh37	1	179783118	179783118	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763232578	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	47	237	0	ENST00000341785.4:c.298C>A	p.Pro100Thr	p.P100T	ENST00000341785	NM_173509.2	100	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS1333.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCCATAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31914,hmmpanther:PTHR31914:SF2,Pfam_domain:PF15069	.	.	ENSP00000354891	.	5/5	.	.	.	.	.	.	.	.	rs763232578	5/5	PASS	ENST00000341785	Transcript	.	.	ENSG00000143340	28274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.01)	.	F163A_HUMAN	FAM163A	HGNC	.	.	UPI000006ED82	SNV	FAM163A,missense_variant,p.Pro100Thr,ENST00000341785,;RP11-12M5.3,downstream_gene_variant,,ENST00000453051,;RP11-12M5.3,downstream_gene_variant,,ENST00000415218,;	694	237	216	SUCCESS
C1orf131	128061	.	GRCh37	1	231376848	231376848	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	14	215	0	ENST00000366649.2:c.40G>T	p.Glu14Ter	p.E14*	ENST00000366649		14	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1591.2	40	MUTECT|MUSE	.	TTGCTCCTGCG	NONE	.	.	.	.	.	ENSP00000355609	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000366649	Transcript	.	.	ENSG00000143633	25332	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA131_HUMAN	C1orf131	HGNC	Q5TBH9_HUMAN	.	UPI000013E1F8	SNV	C1orf131,stop_gained,p.Glu14Ter,ENST00000366649,;C1orf131,stop_gained,p.Glu14Ter,ENST00000366651,;C1orf131,stop_gained,p.Glu14Ter,ENST00000318906,;GNPAT,upstream_gene_variant,,ENST00000366646,;GNPAT,upstream_gene_variant,,ENST00000416000,;GNPAT,upstream_gene_variant,,ENST00000436239,;C1orf131,upstream_gene_variant,,ENST00000451322,;GNPAT,upstream_gene_variant,,ENST00000366647,;C1orf131,non_coding_transcript_exon_variant,,ENST00000471936,;C1orf131,upstream_gene_variant,,ENST00000486384,;	66	215	236	SUCCESS
RGS7	6000	.	GRCh37	1	240969620	240969620	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750873367	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	58	82	0	ENST00000366565.1:c.1089G>C	p.Trp363Cys	p.W363C	ENST00000366565	NM_002924.4	363	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS31071.1	1089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCCAGAA	NONE	byFrequency	.	Prints_domain:PR01301,Superfamily_domains:SSF48097,SMART_domains:SM00315,Gene3D:1.10.167.10,Pfam_domain:PF00615,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,PROSITE_profiles:PS50132	.	.	ENSP00000355523	.	15/18	.	.	.	.	.	.	.	.	rs750873367	15/18	PASS	ENST00000366565	Transcript	.	.	ENSG00000182901	10003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGS7_HUMAN	RGS7	HGNC	.	.	UPI000040E182	SNV	RGS7,missense_variant,p.Trp194Cys,ENST00000440928,;RGS7,missense_variant,p.Trp337Cys,ENST00000331110,;RGS7,missense_variant,p.Trp279Cys,ENST00000446183,;RGS7,missense_variant,p.Trp310Cys,ENST00000401882,;RGS7,missense_variant,p.Trp363Cys,ENST00000366564,;RGS7,missense_variant,p.Trp363Cys,ENST00000366565,;RGS7,missense_variant,p.Trp363Cys,ENST00000366562,;RGS7,missense_variant,p.Trp363Cys,ENST00000407727,;RGS7,missense_variant,p.Trp363Cys,ENST00000366563,;RGS7,missense_variant,p.Trp310Cys,ENST00000348120,;	1471	82	105	SUCCESS
TMEM54	113452	.	GRCh37	1	33361532	33361532	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	77	0	ENST00000373463.3:c.249C>A	p.Arg83=	p.R83=	ENST00000373463	NM_033504.2	83	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS371.1	249	MUTECT|MUSE|VARSCANS	.	AGGTAGCGTGA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF12304,hmmpanther:PTHR31258,hmmpanther:PTHR31258:SF2	.	.	ENSP00000362562	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000373463	Transcript	.	.	ENSG00000121900	24143	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMM54_HUMAN	TMEM54	HGNC	.	.	UPI0000073706	SNV	TMEM54,synonymous_variant,p.%3D,ENST00000373463,;TMEM54,intron_variant,,ENST00000329151,;HPCA,downstream_gene_variant,,ENST00000373467,;TMEM54,non_coding_transcript_exon_variant,,ENST00000463914,;TMEM54,non_coding_transcript_exon_variant,,ENST00000474144,;HPCA,intron_variant,,ENST00000470896,;TMEM54,intron_variant,,ENST00000475208,;TMEM54,upstream_gene_variant,,ENST00000482771,;HPCA,downstream_gene_variant,,ENST00000470166,;HPCA,downstream_gene_variant,,ENST00000459874,;HPCA,downstream_gene_variant,,ENST00000480118,;	369	77	73	SUCCESS
B4GALT2	8704	.	GRCh37	1	44456052	44456052	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1312790665	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	132	0	ENST00000356836.6:c.1051C>T	p.Arg351Trp	p.R351W	ENST00000356836	NM_001005417.2	351	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS55596.1	1138	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCGGCAA	NONE	.	.	hmmpanther:PTHR19300:SF32,hmmpanther:PTHR19300,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000310696	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309519	Transcript	.	.	ENSG00000117411	925	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.843)	.	deleterious(0.01)	.	B4GT2_HUMAN	B4GALT2	HGNC	B3KQA5_HUMAN	.	UPI00017A6C37	SNV	B4GALT2,missense_variant,p.Arg351Trp,ENST00000372324,;B4GALT2,missense_variant,p.Arg380Trp,ENST00000309519,;B4GALT2,missense_variant,p.Arg351Trp,ENST00000356836,;B4GALT2,missense_variant,p.Arg285Trp,ENST00000434555,;SLC6A9,downstream_gene_variant,,ENST00000372306,;CCDC24,upstream_gene_variant,,ENST00000372318,;SLC6A9,downstream_gene_variant,,ENST00000372307,;CCDC24,upstream_gene_variant,,ENST00000466180,;CCDC24,upstream_gene_variant,,ENST00000479055,;B4GALT2,downstream_gene_variant,,ENST00000485678,;B4GALT2,downstream_gene_variant,,ENST00000481924,;CCDC24,upstream_gene_variant,,ENST00000490064,;CCDC24,upstream_gene_variant,,ENST00000486504,;CCDC24,upstream_gene_variant,,ENST00000490563,;CCDC24,upstream_gene_variant,,ENST00000485811,;CCDC24,upstream_gene_variant,,ENST00000463846,;CCDC24,upstream_gene_variant,,ENST00000460543,;CCDC24,upstream_gene_variant,,ENST00000486064,;	1163	132	122	SUCCESS
CYP4A22	284541	.	GRCh37	1	47611805	47611805	+	synonymous_variant	Silent	SNP	G	G	T	rs140647389	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	47	264	0	ENST00000371891.3:c.1344G>T	p.Leu448=	p.L448=	ENST00000371891	NM_001010969.2	448	ctG/ctT	0	A:0	.	.	.	.	T	L	protein_coding	YES	CCDS30707.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGCCCTT	NONE	byCluster	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463	.	A:0.0001	ENSP00000360958	.	11/12	.	.	.	.	.	.	.	.	rs140647389	11/12	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	SNV	CYP4A22,synonymous_variant,p.%3D,ENST00000371890,;CYP4A22,synonymous_variant,p.%3D,ENST00000294337,;CYP4A22,synonymous_variant,p.%3D,ENST00000371891,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	1375	264	183	SUCCESS
BARHL2	343472	.	GRCh37	1	91180225	91180225	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	8	127	0	ENST00000370445.4:c.714T>A	p.Ala238=	p.A238=	ENST00000370445	NM_020063.1	238	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS730.1	714	MUTECT|MUSE	.	GAAAAAGCTGT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000359474	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370445	Transcript	.	.	ENSG00000143032	954	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BARH2_HUMAN	BARHL2	HGNC	.	.	UPI00001B50ED	SNV	BARHL2,synonymous_variant,p.%3D,ENST00000370445,;	756	127	131	SUCCESS
ZSWIM1	90204	.	GRCh37	20	44511555	44511555	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	52	169	0	ENST00000372520.1:c.324T>A	p.Leu108=	p.L108=	ENST00000372520		108	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13382.2	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTTGCCCG	NONE	.	.	hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0	.	.	ENSP00000361601	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372523	Transcript	.	.	ENSG00000168612	16155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSWM1_HUMAN	ZSWIM1	HGNC	A8K5I9_HUMAN	.	UPI0000470896	SNV	ZSWIM1,synonymous_variant,p.%3D,ENST00000372520,;ZSWIM1,synonymous_variant,p.%3D,ENST00000372523,;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,;ZSWIM3,downstream_gene_variant,,ENST00000255152,;	419	169	166	SUCCESS
SLC7A4	6545	.	GRCh37	22	21384617	21384617	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	20	192	0	ENST00000382932.2:c.1006C>T	p.Leu336Phe	p.L336F	ENST00000382932	NM_004173.2	336	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS33608.1	1006	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGCTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF196,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000372390	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000382932	Transcript	.	.	ENSG00000099960	11062	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.65)	.	CTR4_HUMAN	SLC7A4	HGNC	C9JM63_HUMAN	.	UPI0000169EC7	SNV	SLC7A4,missense_variant,p.Leu336Phe,ENST00000403586,;SLC7A4,missense_variant,p.Leu336Phe,ENST00000382932,;P2RX6,downstream_gene_variant,,ENST00000401443,;P2RX6,downstream_gene_variant,,ENST00000413302,;P2RX6,downstream_gene_variant,,ENST00000402329,;SLC7A4,downstream_gene_variant,,ENST00000426145,;P2RX6,downstream_gene_variant,,ENST00000336296,;P2RX6,downstream_gene_variant,,ENST00000443995,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6P,downstream_gene_variant,,ENST00000439119,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000487342,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;	1074	192	159	SUCCESS
EP300	2033	.	GRCh37	22	41545769	41545769	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	71	0	ENST00000263253.7:c.2384A>G	p.Gln795Arg	p.Q795R	ENST00000263253	NM_001429.3	795	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS14010.1	2384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACAAATGT	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	14/31	.	.	.	.	.	.	.	.	.	14/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.Gln795Arg,ENST00000263253,;	3603	71	68	SUCCESS
ERBB4	2066	.	GRCh37	2	212543805	212543805	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	278	30	312	0	ENST00000342788.4:c.1594T>C	p.Cys532Arg	p.C532R	ENST00000342788	NM_005235.2	532	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS2394.1	1594	MUTECT|MUSE|VARSCANS	.	TATGCAGATCC	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF14843,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Superfamily_domains:SSF57184	.	.	ENSP00000342235	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Cys532Arg,ENST00000402597,;ERBB4,missense_variant,p.Cys532Arg,ENST00000436443,;ERBB4,missense_variant,p.Cys532Arg,ENST00000260943,;ERBB4,missense_variant,p.Cys532Arg,ENST00000342788,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	1905	312	309	SUCCESS
RBKS	64080	.	GRCh37	2	28113208	28113208	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1267579665	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	34	0	ENST00000302188.3:c.5C>T	p.Ala2Val	p.A2V	ENST00000302188	NM_022128.1	2	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1762.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGCCATC	NONE	.	.	.	.	.	ENSP00000306817	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000302188	Transcript	.	.	ENSG00000171174	30325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	deleterious_low_confidence(0.01)	.	RBSK_HUMAN	RBKS	HGNC	Q53SD1_HUMAN	.	UPI000003B021	SNV	RBKS,missense_variant,p.Ala2Val,ENST00000444339,;RBKS,missense_variant,p.Ala2Val,ENST00000302188,;BRE,intron_variant,,ENST00000436924,;BRE,upstream_gene_variant,,ENST00000344773,;BRE,upstream_gene_variant,,ENST00000361704,;BRE,upstream_gene_variant,,ENST00000379632,;BRE,upstream_gene_variant,,ENST00000342045,;BRE,upstream_gene_variant,,ENST00000379629,;BRE,upstream_gene_variant,,ENST00000379624,;BRE,upstream_gene_variant,,ENST00000603461,;RBKS,missense_variant,p.Ala2Val,ENST00000453412,;RBKS,missense_variant,p.Ala2Val,ENST00000449378,;MRPL33,intron_variant,,ENST00000448427,;BRE,upstream_gene_variant,,ENST00000604932,;BRE,upstream_gene_variant,,ENST00000496951,;BRE,upstream_gene_variant,,ENST00000492702,;	758	34	29	SUCCESS
RBKS	64080	.	GRCh37	2	28113209	28113209	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	34	0	ENST00000302188.3:c.4G>T	p.Ala2Ser	p.A2S	ENST00000302188	NM_022128.1	2	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1762.1	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGCCATCG	NONE	.	.	.	.	.	ENSP00000306817	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000302188	Transcript	.	.	ENSG00000171174	30325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	tolerated_low_confidence(0.08)	.	RBSK_HUMAN	RBKS	HGNC	Q53SD1_HUMAN	.	UPI000003B021	SNV	RBKS,missense_variant,p.Ala2Ser,ENST00000444339,;RBKS,missense_variant,p.Ala2Ser,ENST00000302188,;BRE,intron_variant,,ENST00000436924,;BRE,upstream_gene_variant,,ENST00000344773,;BRE,upstream_gene_variant,,ENST00000361704,;BRE,upstream_gene_variant,,ENST00000379632,;BRE,upstream_gene_variant,,ENST00000342045,;BRE,upstream_gene_variant,,ENST00000379629,;BRE,upstream_gene_variant,,ENST00000379624,;BRE,upstream_gene_variant,,ENST00000603461,;RBKS,missense_variant,p.Ala2Ser,ENST00000453412,;RBKS,missense_variant,p.Ala2Ser,ENST00000449378,;MRPL33,intron_variant,,ENST00000448427,;BRE,upstream_gene_variant,,ENST00000604932,;BRE,upstream_gene_variant,,ENST00000496951,;BRE,upstream_gene_variant,,ENST00000492702,;	757	34	30	SUCCESS
RBKS	64080	.	GRCh37	2	28113210	28113210	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	34	0	ENST00000302188.3:c.3G>T	p.Met1?	p.M1?	ENST00000302188	NM_022128.1	1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1762.1	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCATCGC	NONE	.	.	.	.	.	ENSP00000306817	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000302188	Transcript	.	.	ENSG00000171174	30325	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	.	deleterious_low_confidence(0.02)	.	RBSK_HUMAN	RBKS	HGNC	Q53SD1_HUMAN	.	UPI000003B021	SNV	RBKS,start_lost,p.Met1?,ENST00000444339,;RBKS,start_lost,p.Met1?,ENST00000302188,;BRE,intron_variant,,ENST00000436924,;BRE,upstream_gene_variant,,ENST00000344773,;BRE,upstream_gene_variant,,ENST00000361704,;BRE,upstream_gene_variant,,ENST00000379632,;BRE,upstream_gene_variant,,ENST00000342045,;BRE,upstream_gene_variant,,ENST00000379629,;BRE,upstream_gene_variant,,ENST00000379624,;BRE,upstream_gene_variant,,ENST00000603461,;RBKS,start_lost,p.Met1?,ENST00000453412,;RBKS,start_lost,p.Met1?,ENST00000449378,;MRPL33,intron_variant,,ENST00000448427,;BRE,upstream_gene_variant,,ENST00000604932,;BRE,upstream_gene_variant,,ENST00000496951,;BRE,upstream_gene_variant,,ENST00000492702,;	756	34	29	SUCCESS
DCTN1	1639	.	GRCh37	2	74596526	74596526	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	84	0	ENST00000361874.3:c.1485G>T	p.Arg495=	p.R495=	ENST00000361874	NM_004082.4	495	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1939.1	1485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACCCGCGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916	.	.	ENSP00000354791	.	14/32	.	.	.	.	.	.	.	.	.	14/32	PASS	ENST00000361874	Transcript	.	.	ENSG00000204843	2711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCTN1_HUMAN	DCTN1	HGNC	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN	.	UPI0000129A25	SNV	DCTN1,synonymous_variant,p.%3D,ENST00000394003,;DCTN1,synonymous_variant,p.%3D,ENST00000409868,;DCTN1,synonymous_variant,p.%3D,ENST00000407639,;DCTN1,synonymous_variant,p.%3D,ENST00000409240,;DCTN1,synonymous_variant,p.%3D,ENST00000361874,;DCTN1,synonymous_variant,p.%3D,ENST00000409567,;DCTN1,synonymous_variant,p.%3D,ENST00000409438,;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,upstream_gene_variant,,ENST00000495643,;DCTN1,upstream_gene_variant,,ENST00000497666,;DCTN1,downstream_gene_variant,,ENST00000463583,;DCTN1,synonymous_variant,p.%3D,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,downstream_gene_variant,,ENST00000462813,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,downstream_gene_variant,,ENST00000477966,;DCTN1,upstream_gene_variant,,ENST00000491465,;	1803	84	85	SUCCESS
GGCX	2677	.	GRCh37	2	85788530	85788530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	53	198	0	ENST00000233838.4:c.22G>A	p.Ala8Thr	p.A8T	ENST00000233838	NM_000821.5	8	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1978.1	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGCGGACC	NONE	.	.	hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639	.	.	ENSP00000233838	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000233838	Transcript	.	.	ENSG00000115486	4247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.55)	.	VKGC_HUMAN	GGCX	HGNC	.	.	UPI0000000DD6	SNV	GGCX,missense_variant,p.Ala8Thr,ENST00000233838,;GGCX,missense_variant,p.Ala8Thr,ENST00000430215,;VAMP8,upstream_gene_variant,,ENST00000432071,;GGCX,non_coding_transcript_exon_variant,,ENST00000496962,;GGCX,non_coding_transcript_exon_variant,,ENST00000465637,;GGCX,non_coding_transcript_exon_variant,,ENST00000481541,;GGCX,missense_variant,p.Ala8Thr,ENST00000423570,;GGCX,missense_variant,p.Ala8Thr,ENST00000421496,;GGCX,missense_variant,p.Ala8Thr,ENST00000428479,;	103	198	154	SUCCESS
IMPG2	50939	.	GRCh37	3	100947684	100947684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	108	0	ENST00000193391.7:c.3670G>T	p.Ala1224Ser	p.A1224S	ENST00000193391	NM_016247.3	1224	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2940.1	3670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGCATACA	NONE	.	.	hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199	.	.	ENSP00000193391	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000193391	Transcript	.	.	ENSG00000081148	18362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	deleterious(0)	.	IMPG2_HUMAN	IMPG2	HGNC	F1T0J3_HUMAN	.	UPI000013C605	SNV	IMPG2,missense_variant,p.Ala1224Ser,ENST00000193391,;	3858	108	86	SUCCESS
SI	6476	.	GRCh37	3	164773036	164773036	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	102	0	ENST00000264382.3:c.1458G>C	p.Trp486Cys	p.W486C	ENST00000264382	NM_001041.3	486	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS3196.1	1458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCCACCA	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	13/48	.	.	.	.	.	.	.	.	.	13/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Trp486Cys,ENST00000264382,;	1521	102	95	SUCCESS
LRCH3	84859	.	GRCh37	3	197598194	197598194	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	57	154	1	ENST00000425562.2:c.1993-2A>G		p.X665_splice	ENST00000425562		665		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3330.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAGCATA	NONE	.	.	.	.	.	ENSP00000334375	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334859	Transcript	.	.	ENSG00000186001	28637	.	.	HIGH	18/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRCH3_HUMAN	LRCH3	HGNC	.	.	UPI000006E903	SNV	LRCH3,splice_acceptor_variant,,ENST00000428136,;LRCH3,splice_acceptor_variant,,ENST00000334859,;LRCH3,splice_acceptor_variant,,ENST00000452660,;LRCH3,splice_acceptor_variant,,ENST00000438796,;LRCH3,splice_acceptor_variant,,ENST00000433298,;LRCH3,splice_acceptor_variant,,ENST00000441090,;LRCH3,splice_acceptor_variant,,ENST00000425562,;LRCH3,splice_acceptor_variant,,ENST00000414675,;LRCH3,splice_acceptor_variant,,ENST00000536618,;LRCH3,splice_acceptor_variant,,ENST00000473177,;LRCH3,splice_acceptor_variant,,ENST00000471667,;LRCH3,splice_acceptor_variant,,ENST00000483442,;LRCH3,upstream_gene_variant,,ENST00000476664,;LRCH3,upstream_gene_variant,,ENST00000466054,;LRCH3,downstream_gene_variant,,ENST00000461674,;	.	156	222	SUCCESS
ZCWPW2	152098	.	GRCh37	3	28476749	28476749	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751684863	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	115	337	0	ENST00000383768.2:c.481A>G	p.Ile161Val	p.I161V	ENST00000383768		161	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33723.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGTATCACA	NONE	.	.	Superfamily_domains:SSF63748,Pfam_domain:PF00855,Gene3D:2.30.30.160,hmmpanther:PTHR15999:SF3,hmmpanther:PTHR15999	.	.	ENSP00000373278	.	4/10	.	.	.	.	.	.	.	.	rs751684863	4/10	PASS	ENST00000383768	Transcript	.	.	ENSG00000206559	23574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.16)	.	ZCPW2_HUMAN	ZCWPW2	HGNC	C9JFK0_HUMAN	.	UPI0000161ABF	SNV	ZCWPW2,missense_variant,p.Ile161Val,ENST00000383768,;ZCWPW2,missense_variant,p.Ile13Val,ENST00000419130,;ZCWPW2,missense_variant,p.Ile161Val,ENST00000421010,;ZCWPW2,missense_variant,p.Ile145Val,ENST00000428875,;ZCWPW2,downstream_gene_variant,,ENST00000420223,;	669	337	362	SUCCESS
ADH5	128	.	GRCh37	4	100002517	100002517	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	117	402	0	ENST00000296412.8:c.343A>T	p.Arg115Ter	p.R115*	ENST00000296412	NM_000671.3	115	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS47111.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCTTATCT	NONE	.	.	hmmpanther:PTHR11695:SF396,hmmpanther:PTHR11695,Pfam_domain:PF08240,Gene3D:3.90.180.10,TIGRFAM_domain:TIGR02818,Superfamily_domains:SSF50129	.	.	ENSP00000296412	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000296412	Transcript	.	.	ENSG00000197894	253	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADHX_HUMAN	ADH5	HGNC	Q6IRT1_HUMAN,D6RFE4_HUMAN	.	UPI0000000DE6	SNV	ADH5,stop_gained,p.Arg102Ter,ENST00000503130,;ADH5,stop_gained,p.Arg115Ter,ENST00000296412,;ADH5,splice_region_variant,,ENST00000508146,;ADH5,splice_region_variant,,ENST00000512991,;ADH5,upstream_gene_variant,,ENST00000512604,;ADH5,stop_gained,p.Arg115Ter,ENST00000505652,;ADH5,splice_region_variant,,ENST00000502590,;ADH5,splice_region_variant,,ENST00000512621,;ADH5,splice_region_variant,,ENST00000512659,;ADH5,splice_region_variant,,ENST00000508511,;ADH5,downstream_gene_variant,,ENST00000502386,;ADH5,downstream_gene_variant,,ENST00000507102,;	394	402	279	SUCCESS
FAT4	79633	.	GRCh37	4	126242565	126242565	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs369211657	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	53	150	0	ENST00000394329.3:c.4999A>G	p.Ile1667Val	p.I1667V	ENST00000394329	NM_024582.4	1667	Att/Gtt	0	C:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS3732.3	4999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATATTGTT	NONE	byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	C:0.0001	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	rs369211657	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ile1667Val,ENST00000394329,;	5012	150	219	SUCCESS
TIGD4	201798	.	GRCh37	4	153691328	153691328	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	116	0	ENST00000304337.2:c.829C>G	p.Gln277Glu	p.Q277E	ENST00000304337	NM_145720.3	277	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS34079.1	829	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTGAAATT	NONE	.	.	hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF204,Pfam_domain:PF03184	.	.	ENSP00000355162	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304337	Transcript	.	.	ENSG00000169989	18335	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.815)	.	tolerated(0.09)	.	TIGD4_HUMAN	TIGD4	HGNC	.	.	UPI000013E966	SNV	TIGD4,missense_variant,p.Gln277Glu,ENST00000304337,;	1650	116	121	SUCCESS
LRAT	9227	.	GRCh37	4	155665788	155665788	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	114	0	ENST00000336356.3:c.310A>C	p.Lys104Gln	p.K104Q	ENST00000336356	NM_004744.3	104	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS3789.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCAAAGTG	NONE	.	.	hmmpanther:PTHR13943:SF1,hmmpanther:PTHR13943,Pfam_domain:PF04970	.	.	ENSP00000337224	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000336356	Transcript	1	.	ENSG00000121207	6685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.01)	.	LRAT_HUMAN	LRAT	HGNC	D6RC94_HUMAN	.	UPI0000072711	SNV	LRAT,missense_variant,p.Lys104Gln,ENST00000507827,;LRAT,missense_variant,p.Lys104Gln,ENST00000336356,;LRAT,downstream_gene_variant,,ENST00000502525,;LRAT,intron_variant,,ENST00000499392,;LRAT,upstream_gene_variant,,ENST00000502474,;LRAT,upstream_gene_variant,,ENST00000510919,;LRAT,non_coding_transcript_exon_variant,,ENST00000510733,;	563	114	113	SUCCESS
FSTL5	56884	.	GRCh37	4	162508676	162508676	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs199831351	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	331	9	337	0	ENST00000306100.5:c.946G>C	p.Val316Leu	p.V316L	ENST00000306100	NM_001128427.2	316	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS3802.1	946	MUTECT|MUSE	.	GCCAACGTGAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913,PROSITE_profiles:PS50835	.	.	ENSP00000305334	.	8/16	.	.	.	.	.	.	.	.	rs199831351	8/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.04)	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Val315Leu,ENST00000379164,;FSTL5,missense_variant,p.Val315Leu,ENST00000536695,;FSTL5,missense_variant,p.Val315Leu,ENST00000427802,;FSTL5,missense_variant,p.Val316Leu,ENST00000306100,;FSTL5,non_coding_transcript_exon_variant,,ENST00000511170,;	1383	337	340	SUCCESS
FAM47E-STBD1	100631383	.	GRCh37	4	77231063	77231063	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	105	0	ENST00000237642.6:c.987G>T	p.Gly329=	p.G329=	ENST00000237642	NM_003943.4	329	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3578.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGGGAGT	NONE	.	.	PROSITE_profiles:PS51166,hmmpanther:PTHR15048,hmmpanther:PTHR15048:SF0,Gene3D:2.60.40.10,Pfam_domain:PF00686,SMART_domains:SM01065,Superfamily_domains:SSF49452	.	.	ENSP00000237642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000237642	Transcript	.	.	ENSG00000118804	44667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STBD1_HUMAN	FAM47E-STBD1	HGNC	B3KMK8_HUMAN	.	UPI000006DB9D	SNV	FAM47E-STBD1,synonymous_variant,p.%3D,ENST00000539752,;FAM47E-STBD1,synonymous_variant,p.%3D,ENST00000237642,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514140,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000515604,;CCDC158,downstream_gene_variant,,ENST00000388914,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514365,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;CCDC158,downstream_gene_variant,,ENST00000504667,;	1731	105	108	SUCCESS
GPR78	27201	.	GRCh37	4	8582915	8582915	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	64	0	ENST00000382487.4:c.206G>A	p.Arg69His	p.R69H	ENST00000382487	NM_080819.4	69	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS3403.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGCGGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF5,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000371927	.	1/3	.	.	.	.	.	.	.	.	COSM4126461	1/3	PASS	ENST00000382487	Transcript	.	.	ENSG00000155269	4528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.009)	.	tolerated(0.56)	1	GPR78_HUMAN	GPR78	HGNC	D6RB95_HUMAN,B2R7M4_HUMAN	.	UPI0000037A5F	SNV	GPR78,missense_variant,p.Arg69His,ENST00000382487,;GPR78,intron_variant,,ENST00000509216,;GPR78,downstream_gene_variant,,ENST00000503981,;GPR78,upstream_gene_variant,,ENST00000504255,;GPR78,downstream_gene_variant,,ENST00000503448,;GPR78,missense_variant,p.Arg69His,ENST00000514302,;	623	64	51	SUCCESS
TNFAIP8	25816	.	GRCh37	5	118691623	118691623	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	19	0	ENST00000503646.1:c.-68-95T>C		p.*23*	ENST00000503646	NM_001286813.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47258.1	.	MUTECT|MUSE	.	GAAAATCCCTG	NONE	.	.	.	.	.	ENSP00000422245	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000504771	Transcript	.	.	ENSG00000145779	17260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TFIP8_HUMAN	TNFAIP8	HGNC	E5RIJ3_HUMAN	.	UPI000006EB3E	SNV	TNFAIP8,5_prime_UTR_variant,,ENST00000504771,;TNFAIP8,intron_variant,,ENST00000503646,;TNFAIP8,intron_variant,,ENST00000513374,;TNFAIP8,intron_variant,,ENST00000504642,;TNFAIP8,intron_variant,,ENST00000388882,;TNFAIP8,intron_variant,,ENST00000274456,;TNFAIP8,upstream_gene_variant,,ENST00000415806,;	1615	20	20	SUCCESS
PCDHB5	26167	.	GRCh37	5	140516856	140516856	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	70	0	ENST00000231134.5:c.1840T>C	p.Phe614Leu	p.F614L	ENST00000231134	NM_015669.2	614	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS4247.1	1840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTTCAGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious_low_confidence(0.01)	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,missense_variant,p.Phe614Leu,ENST00000231134,;	2057	70	43	SUCCESS
PCDHGA12	26025	.	GRCh37	5	140810186	140810186	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs192473783	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	42	1	ENST00000252085.3:c.-141A>G		p.*47*	ENST00000252085	NM_003735.2			0	.	G:0.0015	.	G:0	.	G	.	protein_coding	YES	CCDS4260.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGCTAGGAAT	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000252085	G:0	1/4	.	.	.	.	.	.	.	.	rs192473783	1/4	PASS	ENST00000252085	Transcript	.	G:0.0004	ENSG00000253159	8699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	PCDGC_HUMAN	PCDHGA12	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073EA1	SNV	PCDHGA12,5_prime_UTR_variant,,ENST00000252085,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	2	43	30	SUCCESS
DDX4	54514	.	GRCh37	5	55081630	55081630	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	58	227	0	ENST00000505374.1:c.795C>A	p.Gly265=	p.G265=	ENST00000505374	NM_024415.2	265	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3969.1	795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCATAAA	NONE	.	.	hmmpanther:PTHR24031:SF168,hmmpanther:PTHR24031	.	.	ENSP00000424838	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000505374	Transcript	.	.	ENSG00000152670	18700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX4_HUMAN	DDX4	HGNC	D6RBL3_HUMAN,D6RAF5_HUMAN	.	UPI00001290D3	SNV	DDX4,synonymous_variant,p.%3D,ENST00000353507,;DDX4,synonymous_variant,p.%3D,ENST00000514278,;DDX4,synonymous_variant,p.%3D,ENST00000506511,;DDX4,synonymous_variant,p.%3D,ENST00000511853,;DDX4,synonymous_variant,p.%3D,ENST00000354991,;DDX4,synonymous_variant,p.%3D,ENST00000505374,;DDX4,downstream_gene_variant,,ENST00000515709,;DDX4,synonymous_variant,p.%3D,ENST00000503129,;DDX4,3_prime_UTR_variant,,ENST00000507645,;DDX4,downstream_gene_variant,,ENST00000509312,;	887	227	200	SUCCESS
PLK2	10769	.	GRCh37	5	57750578	57750578	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	44	171	0	ENST00000274289.3:c.1890A>G	p.Thr630=	p.T630=	ENST00000274289	NM_006622.3	630	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3974.1	1890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTGTATG	NONE	.	.	PROSITE_profiles:PS50078,hmmpanther:PTHR24345:SF44,hmmpanther:PTHR24345,Gene3D:3.30.1120.30,Pfam_domain:PF00659,Superfamily_domains:SSF82615	.	.	ENSP00000274289	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000274289	Transcript	.	.	ENSG00000145632	19699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLK2_HUMAN	PLK2	HGNC	.	.	UPI0000135B35	SNV	PLK2,synonymous_variant,p.%3D,ENST00000274289,;PLK2,intron_variant,,ENST00000502671,;PLK2,non_coding_transcript_exon_variant,,ENST00000511326,;PLK2,downstream_gene_variant,,ENST00000509422,;PLK2,downstream_gene_variant,,ENST00000505244,;PLK2,downstream_gene_variant,,ENST00000514306,;PLK2,downstream_gene_variant,,ENST00000503115,;PLK2,downstream_gene_variant,,ENST00000515415,;PLK2,downstream_gene_variant,,ENST00000504196,;PLK2,downstream_gene_variant,,ENST00000509555,;PLK2,downstream_gene_variant,,ENST00000503378,;PLK2,downstream_gene_variant,,ENST00000508300,;PLK2,downstream_gene_variant,,ENST00000510629,;PLK2,downstream_gene_variant,,ENST00000503713,;	2191	171	158	SUCCESS
FOXO3	2309	.	GRCh37	6	108985342	108985342	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs761305424	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	85	1	ENST00000343882.6:c.1306G>T	p.Gly436Ter	p.G436*	ENST00000343882	NM_201559.2	436	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS5068.1	1306	RADIA|MUTECT|VARSCANS	.	TGTTCGGACCT	CODON|p.F435F|c.1305C>T|9	byFrequency	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF129	.	.	ENSP00000385824	.	2/3	.	.	.	.	.	.	.	.	rs761305424	2/3	PASS	ENST00000406360	Transcript	.	.	ENSG00000118689	3821	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXO3_HUMAN	FOXO3	HGNC	B4DVZ6_HUMAN	.	UPI000012ADEA	SNV	FOXO3,stop_gained,p.Gly216Ter,ENST00000540898,;FOXO3,stop_gained,p.Gly436Ter,ENST00000406360,;FOXO3,stop_gained,p.Gly436Ter,ENST00000343882,;	1649	86	67	SUCCESS
RANBP9	10048	.	GRCh37	6	13622650	13622650	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	86	0	ENST00000011619.3:c.2134G>A	p.Ala712Thr	p.A712T	ENST00000011619	NM_005493.2	712	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4529.1	2134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGCCATCA	NONE	.	.	SMART_domains:SM00757,hmmpanther:PTHR12864:SF16,hmmpanther:PTHR12864	.	.	ENSP00000011619	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000011619	Transcript	.	.	ENSG00000010017	13727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	RANB9_HUMAN	RANBP9	HGNC	B2R8E1_HUMAN	.	UPI000006ED83	SNV	RANBP9,missense_variant,p.Ala712Thr,ENST00000011619,;RANBP9,missense_variant,p.Ala483Thr,ENST00000539980,;NOL7,downstream_gene_variant,,ENST00000451315,;AL441883.1,upstream_gene_variant,,ENST00000600057,;NOL7,downstream_gene_variant,,ENST00000420088,;RANBP9,non_coding_transcript_exon_variant,,ENST00000469916,;NOL7,intron_variant,,ENST00000474485,;	2193	86	114	SUCCESS
NOTCH4	4855	.	GRCh37	6	32183114	32183114	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs748956143	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	20	62	0	ENST00000375023.3:c.1910A>C	p.Lys637Thr	p.K637T	ENST00000375023	NM_004557.3	637	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS34420.1	1910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTTGGGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00181,PIRSF_domain:PIRSF002279	.	.	ENSP00000364163	.	12/30	.	.	.	.	.	.	.	.	rs748956143	12/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Lys637Thr,ENST00000375023,;NOTCH4,upstream_gene_variant,,ENST00000465528,;NOTCH4,downstream_gene_variant,,ENST00000473562,;	2049	62	103	SUCCESS
SLC39A7	7922	.	GRCh37	6	33170833	33170833	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771311186	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	30	106	0	ENST00000374675.3:c.1087G>A	p.Glu363Lys	p.E363K	ENST00000374675	NM_001077516.1	363	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43453.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGAGGTC	NONE	.	.	hmmpanther:PTHR16950,hmmpanther:PTHR16950:SF5,Pfam_domain:PF02535	.	.	ENSP00000363809	.	6/7	.	.	.	.	.	.	.	.	rs771311186	6/7	PASS	ENST00000374677	Transcript	.	.	ENSG00000112473	4927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S39A7_HUMAN	SLC39A7	HGNC	Q29984_HUMAN	.	UPI0000046C3F	SNV	SLC39A7,missense_variant,p.Glu363Lys,ENST00000374675,;SLC39A7,missense_variant,p.Glu363Lys,ENST00000374677,;RXRB,upstream_gene_variant,,ENST00000544186,;SLC39A7,downstream_gene_variant,,ENST00000444757,;HSD17B8,upstream_gene_variant,,ENST00000374662,;RXRB,upstream_gene_variant,,ENST00000413614,;RXRB,upstream_gene_variant,,ENST00000374680,;RXRB,upstream_gene_variant,,ENST00000374685,;MIR219-1,upstream_gene_variant,,ENST00000362166,;RNY4P10,downstream_gene_variant,,ENST00000365571,;SLC39A7,non_coding_transcript_exon_variant,,ENST00000463972,;HSD17B8,upstream_gene_variant,,ENST00000469186,;RXRB,upstream_gene_variant,,ENST00000483281,;RXRB,upstream_gene_variant,,ENST00000481441,;	1460	106	112	SUCCESS
KCNK17	89822	.	GRCh37	6	39271749	39271749	+	synonymous_variant	Silent	SNP	G	G	A	rs533411945	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	6	74	0	ENST00000373231.4:c.672C>T	p.Phe224=	p.F224=	ENST00000373231	NM_031460.3	224	ttC/ttT	0	.	A:0	.	A:0	.	A	F	protein_coding	YES	CCDS4842.1	672	MUTECT|MUSE	.	TCGCCGAAGCC	NONE	byFrequency|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF24,hmmpanther:PTHR11003,Gene3D:1.10.287.70,Pfam_domain:PF07885,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01333	A:0	.	ENSP00000362328	A:0	4/5	.	.	.	.	.	.	.	.	rs533411945,COSM1078971,COSM1596345	4/5	PASS	ENST00000373231	Transcript	.	A:0.0004	ENSG00000124780	14465	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	A:0.002	.	0,1,1	KCNKH_HUMAN	KCNK17	HGNC	.	.	UPI0000127A59	SNV	KCNK17,synonymous_variant,p.%3D,ENST00000373231,;KCNK17,synonymous_variant,p.%3D,ENST00000453413,;KCNK17,downstream_gene_variant,,ENST00000503878,;	905	74	95	SUCCESS
TJAP1	93643	.	GRCh37	6	43470061	43470061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	21	61	0	ENST00000372445.5:c.331G>A	p.Glu111Lys	p.E111K	ENST00000372445	NM_001146016.1	111	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55004.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAGTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000361522	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000372445	Transcript	.	.	ENSG00000137221	17949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	.	deleterious(0.01)	.	TJAP1_HUMAN	TJAP1	HGNC	E2QRK7_HUMAN,B3KT40_HUMAN	.	UPI00004A3A96	SNV	TJAP1,missense_variant,p.Glu111Lys,ENST00000372449,;TJAP1,missense_variant,p.Glu111Lys,ENST00000436109,;TJAP1,missense_variant,p.Glu111Lys,ENST00000438588,;TJAP1,missense_variant,p.Glu111Lys,ENST00000372445,;TJAP1,missense_variant,p.Glu111Lys,ENST00000372444,;TJAP1,missense_variant,p.Glu69Lys,ENST00000454762,;TJAP1,missense_variant,p.Glu111Lys,ENST00000372452,;TJAP1,missense_variant,p.Glu111Lys,ENST00000259751,;TJAP1,missense_variant,p.Glu111Lys,ENST00000442878,;TJAP1,downstream_gene_variant,,ENST00000372454,;LRRC73,downstream_gene_variant,,ENST00000372441,;TJAP1,non_coding_transcript_exon_variant,,ENST00000478173,;TJAP1,non_coding_transcript_exon_variant,,ENST00000490050,;TJAP1,non_coding_transcript_exon_variant,,ENST00000459851,;TJAP1,non_coding_transcript_exon_variant,,ENST00000483640,;	707	61	98	SUCCESS
GCM1	8521	.	GRCh37	6	53010550	53010550	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	46	0	ENST00000259803.7:c.-120C>G		p.*40*	ENST00000259803	NM_003643.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4950.1	.	MUTECT|MUSE	.	ACCAGGAGATT	NONE	.	.	.	.	.	ENSP00000259803	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000259803	Transcript	.	.	ENSG00000137270	4197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GCM1_HUMAN	GCM1	HGNC	.	.	UPI0000073F99	SNV	GCM1,5_prime_UTR_variant,,ENST00000259803,;U3,downstream_gene_variant,,ENST00000516121,;	93	46	74	SUCCESS
TINAG	27283	.	GRCh37	6	54191649	54191649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	8	161	0	ENST00000259782.4:c.559G>T	p.Gly187Cys	p.G187C	ENST00000259782	NM_014464.3	187	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS4955.1	559	MUTECT|MUSE	.	AAGATGGTTTT	NONE	.	.	Superfamily_domains:SSF54001,hmmpanther:PTHR12411:SF274,hmmpanther:PTHR12411	.	.	ENSP00000259782	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000259782	Transcript	.	.	ENSG00000137251	14599	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TINAG_HUMAN	TINAG	HGNC	B1AQ11_HUMAN	.	UPI000013D078	SNV	TINAG,missense_variant,p.Gly183Cys,ENST00000370869,;TINAG,missense_variant,p.Gly169Cys,ENST00000370864,;TINAG,missense_variant,p.Gly187Cys,ENST00000259782,;TINAG,downstream_gene_variant,,ENST00000486436,;	655	161	199	SUCCESS
BMP6	654	.	GRCh37	6	7879308	7879308	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	rs774591705	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	46	131	0	ENST00000283147.6:c.1206T>C		p.X402_splice	ENST00000283147	NM_001718.4	402	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS4503.1	1206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATTACAA	NONE	byFrequency	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF137,hmmpanther:PTHR11848,Gene3D:2.10.90.10	.	.	ENSP00000283147	.	5/7	.	.	.	.	.	.	.	.	rs774591705	5/7	PASS	ENST00000283147	Transcript	.	.	ENSG00000153162	1073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP6_HUMAN	BMP6	HGNC	B4DUF7_HUMAN	.	UPI0000126A2D	SNV	BMP6,synonymous_variant,p.%3D,ENST00000283147,;TXNDC5,downstream_gene_variant,,ENST00000539054,;TXNDC5,downstream_gene_variant,,ENST00000379757,;TXNDC5,downstream_gene_variant,,ENST00000473453,;TXNDC5,downstream_gene_variant,,ENST00000475802,;BLOC1S5-TXNDC5,downstream_gene_variant,,ENST00000439343,;TXNDC5,downstream_gene_variant,,ENST00000460138,;	1365	131	161	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113518594	113518594	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	14	138	0	ENST00000284601.3:c.2553C>T	p.Val851=	p.V851=	ENST00000284601	NM_002711.3	851	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5759.1	2553	RADIA|MUTECT|MUSE|VARSCANS	.	GTAATGACCCA	NONE	.	.	.	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,synonymous_variant,p.%3D,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	2622	138	128	SUCCESS
HDAC9	9734	.	GRCh37	7	18624963	18624963	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs748991990	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	27	154	0	ENST00000432645.2:c.82A>T	p.Thr28Ser	p.T28S	ENST00000432645	NM_058176.2	28	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS47553.1	82	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGACAGAC	NONE	byFrequency	.	PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	2/25	.	.	.	.	.	.	.	.	rs748991990	2/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Thr28Ser,ENST00000401921,;HDAC9,missense_variant,p.Thr28Ser,ENST00000405010,;HDAC9,missense_variant,p.Thr28Ser,ENST00000441542,;HDAC9,missense_variant,p.Thr28Ser,ENST00000413509,;HDAC9,missense_variant,p.Thr28Ser,ENST00000406451,;HDAC9,missense_variant,p.Thr28Ser,ENST00000432645,;HDAC9,missense_variant,p.Thr28Ser,ENST00000428307,;HDAC9,missense_variant,p.Thr70Ser,ENST00000417496,;HDAC9,missense_variant,p.Thr28Ser,ENST00000413380,;HDAC9,missense_variant,p.Thr56Ser,ENST00000406072,;HDAC9,5_prime_UTR_variant,,ENST00000456174,;HDAC9,5_prime_UTR_variant,,ENST00000441986,;HDAC9,5_prime_UTR_variant,,ENST00000430454,;HDAC9,5_prime_UTR_variant,,ENST00000524023,;HDAC9,downstream_gene_variant,,ENST00000433709,;HDAC9,non_coding_transcript_exon_variant,,ENST00000476135,;HDAC9,missense_variant,p.Asp24Val,ENST00000446646,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	82	154	167	SUCCESS
MAGI2	9863	.	GRCh37	7	77789511	77789511	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	14	152	0	ENST00000354212.4:c.2676C>A	p.Thr892=	p.T892=	ENST00000354212	NM_012301.3	892	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5594.1	2676	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTAGGTTGC	NONE	.	.	hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316	.	.	ENSP00000346151	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,synonymous_variant,p.%3D,ENST00000354212,;MAGI2,synonymous_variant,p.%3D,ENST00000419488,;MAGI2,synonymous_variant,p.%3D,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000522342,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000524268,;	2930	152	138	SUCCESS
MAGI2	9863	.	GRCh37	7	77789512	77789512	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780033666	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	15	150	0	ENST00000354212.4:c.2675C>A	p.Thr892Asn	p.T892N	ENST00000354212	NM_012301.3	892	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS5594.1	2675	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGTTGCG	NONE	.	.	hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316	.	.	ENSP00000346151	.	16/22	.	.	.	.	.	.	.	.	rs780033666	16/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.055)	.	tolerated(0.08)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Thr892Asn,ENST00000354212,;MAGI2,missense_variant,p.Thr878Asn,ENST00000419488,;MAGI2,missense_variant,p.Thr892Asn,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000522342,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000524268,;	2929	150	137	SUCCESS
ZNF804B	219578	.	GRCh37	7	88964202	88964202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	52	219	0	ENST00000333190.4:c.1906A>G	p.Lys636Glu	p.K636E	ENST00000333190	NM_181646.2	636	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS5613.1	1906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAAGCAT	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.01)	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Lys636Glu,ENST00000333190,;	2515	219	182	SUCCESS
PXDNL	137902	.	GRCh37	8	52287173	52287173	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	130	0	ENST00000356297.4:c.3676C>T	p.Leu1226=	p.L1226=	ENST00000356297	NM_144651.4	1226	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47855.1	3676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGCCGCT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,synonymous_variant,p.%3D,ENST00000543296,;PXDNL,synonymous_variant,p.%3D,ENST00000356297,;PXDNL,intron_variant,,ENST00000522933,;PXDNL,synonymous_variant,p.%3D,ENST00000522628,;	3777	130	94	SUCCESS
IKBKAP	0	.	GRCh37	9	111693419	111693419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	41	148	0	ENST00000374647.5:c.8A>G	p.Asn3Ser	p.N3S	ENST00000374647	NM_003640.3	3	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6773.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATTTCGC	NONE	.	.	hmmpanther:PTHR12747,Pfam_domain:PF04762,PIRSF_domain:PIRSF017233	.	.	ENSP00000363779	.	2/37	.	.	.	.	.	.	.	.	.	2/37	PASS	ENST00000374647	Transcript	.	.	ENSG00000070061	5959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ELP1_HUMAN	IKBKAP	HGNC	Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN	.	UPI000013D2D0	SNV	IKBKAP,missense_variant,p.Asn3Ser,ENST00000374647,;IKBKAP,intron_variant,,ENST00000537196,;FAM206A,upstream_gene_variant,,ENST00000445175,;FAM206A,upstream_gene_variant,,ENST00000322940,;FAM206A,upstream_gene_variant,,ENST00000374624,;FAM206A,upstream_gene_variant,,ENST00000466200,;	316	149	90	SUCCESS
PTAR1	375743	.	GRCh37	9	72333569	72333569	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	86	0	ENST00000340434.4:c.979A>G	p.Asn327Asp	p.N327D	ENST00000340434	NM_001099666.1	327	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS47978.1	979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATTTAAGT	NONE	.	.	hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF3,Gene3D:1.25.40.120,Superfamily_domains:SSF48439	.	.	ENSP00000344299	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000340434	Transcript	.	.	ENSG00000188647	30449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.48)	.	PTAR1_HUMAN	PTAR1	HGNC	.	.	UPI00001D75C1	SNV	PTAR1,missense_variant,p.Asn327Asp,ENST00000340434,;PTAR1,missense_variant,p.Asn94Asp,ENST00000415701,;PTAR1,missense_variant,p.Asn248Asp,ENST00000377200,;	983	86	50	SUCCESS
COL4A5	1287	.	GRCh37	X	107858226	107858226	+	synonymous_variant	Silent	SNP	A	A	T	rs774103829	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	251	8	305	0	ENST00000361603.2:c.2481A>T	p.Pro827=	p.P827=	ENST00000361603	NM_000495.4	827	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS35366.1	2481	MUTECT|MUSE	.	CCACCAGGGAT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	30/53	.	.	.	.	.	.	.	.	rs774103829	30/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,synonymous_variant,p.%3D,ENST00000328300,;COL4A5,synonymous_variant,p.%3D,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	2725	305	259	SUCCESS
MAOB	4129	.	GRCh37	X	43698252	43698252	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	80	0	ENST00000378069.4:c.142-1G>T		p.X48_splice	ENST00000378069	NM_000898.4	48		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14261.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCTGTTT	NONE	.	.	.	.	.	ENSP00000367309	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	HIGH	2/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,splice_acceptor_variant,,ENST00000538942,;MAOB,splice_acceptor_variant,,ENST00000536181,;MAOB,splice_acceptor_variant,,ENST00000378069,;MAOB,splice_acceptor_variant,,ENST00000487544,;MAOB,downstream_gene_variant,,ENST00000468431,;	.	80	54	SUCCESS
SSX4	6759	.	GRCh37	X	48244851	48244851	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	39	270	0	ENST00000376886.2:c.242G>A	p.Gly81Glu	p.G81E	ENST00000376886	NM_005636.3	81	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS35240.1	242	RADIA|VARSCANS	.	CCACGGGAATG	NONE	.	.	SMART_domains:SM00349,hmmpanther:PTHR14112:SF8,hmmpanther:PTHR14112,PROSITE_profiles:PS50806	.	.	ENSP00000366083	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000376886	Transcript	.	.	ENSG00000204645	11338	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.088)	.	tolerated(0.19)	.	SSX4_HUMAN	SSX4	HGNC	.	.	UPI0000136054	SNV	SSX4,missense_variant,p.Gly81Glu,ENST00000376886,;SSX4,missense_variant,p.Gly81Glu,ENST00000375517,;RP11-344N17.12,upstream_gene_variant,,ENST00000413071,;	405	270	288	SUCCESS
NLGN4X	57502	.	GRCh37	X	5821576	5821576	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764507720	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	15	134	0	ENST00000275857.6:c.1143C>A	p.Asp381Glu	p.D381E	ENST00000275857	NM_020742.2	381	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS14126.1	1143	RADIA|VARSCANS	.	ATGCCGTCCAC	NONE	byFrequency	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	5/6	.	.	.	.	.	.	.	.	rs764507720	5/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	tolerated(1)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Asp381Glu,ENST00000381092,;NLGN4X,missense_variant,p.Asp381Glu,ENST00000381095,;NLGN4X,missense_variant,p.Asp401Glu,ENST00000381093,;NLGN4X,missense_variant,p.Asp381Glu,ENST00000538097,;NLGN4X,missense_variant,p.Asp381Glu,ENST00000275857,;NLGN4X,upstream_gene_variant,,ENST00000477079,;	1771	134	111	SUCCESS
SEC23IP	11196	.	GRCh37	10	121678006	121678006	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	112	0	ENST00000369075.3:c.1855C>G	p.His619Asp	p.H619D	ENST00000369075	NM_007190.3	619	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS7618.1	1855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTACATTTT	NONE	.	.	hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25	.	.	ENSP00000358071	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000369075	Transcript	.	.	ENSG00000107651	17018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.62)	.	S23IP_HUMAN	SEC23IP	HGNC	.	.	UPI000006FCCE	SNV	SEC23IP,missense_variant,p.His408Asp,ENST00000543134,;SEC23IP,missense_variant,p.His619Asp,ENST00000369075,;SEC23IP,downstream_gene_variant,,ENST00000446561,;SEC23IP,downstream_gene_variant,,ENST00000462222,;	1927	112	61	SUCCESS
FAM171A1	221061	.	GRCh37	10	15256432	15256432	+	synonymous_variant	Silent	SNP	G	G	C	rs143895945	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	29	87	0	ENST00000378116.4:c.1155C>G	p.Pro385=	p.P385=	ENST00000378116	NM_001010924.1	385	ccC/ccG	0	A:0.0007	.	.	.	.	C	P	protein_coding	YES	CCDS31154.1	1155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGGGGCG	NONE	byCluster	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	A:0	ENSP00000367356	.	8/8	.	.	.	.	.	.	.	.	rs143895945	8/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,synonymous_variant,p.%3D,ENST00000378116,;FAM171A1,non_coding_transcript_exon_variant,,ENST00000477161,;	1162	87	142	SUCCESS
ZNF485	220992	.	GRCh37	10	44111881	44111881	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	95	231	0	ENST00000361807.3:c.390T>C	p.Tyr130=	p.Y130=	ENST00000361807	NM_145312.3	130	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS7205.2	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTATAAGTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF00096,hmmpanther:PTHR24376:SF14,hmmpanther:PTHR24376,PROSITE_profiles:PS50157	.	.	ENSP00000354694	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361807	Transcript	.	.	ENSG00000198298	23440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN485_HUMAN	ZNF485	HGNC	C9JV60_HUMAN,B4DSE6_HUMAN,B2R8D6_HUMAN	.	UPI00000717FE	SNV	ZNF485,synonymous_variant,p.%3D,ENST00000374437,;ZNF485,synonymous_variant,p.%3D,ENST00000374435,;ZNF485,synonymous_variant,p.%3D,ENST00000361807,;ZNF485,downstream_gene_variant,,ENST00000430885,;	584	231	192	SUCCESS
AKR1C4	1109	.	GRCh37	10	5238850	5238850	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373855442	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	107	122	0	ENST00000263126.1:c.20G>A	p.Arg7His	p.R7H	ENST00000263126	NM_001818.3	7	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS7064.1	20	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGTGTAG	CODON|p.R7C|c.19C>T|4	byCluster	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	.	A:0	ENSP00000369814	.	3/11	.	.	.	.	.	.	.	.	rs373855442	3/11	PASS	ENST00000380448	Transcript	1	.	ENSG00000198610	387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.32)	.	AK1C4_HUMAN	AKR1C4	HGNC	Q96SD9_HUMAN	.	UPI000013D3B2	SNV	AKR1C4,missense_variant,p.Arg7His,ENST00000380448,;AKR1C4,missense_variant,p.Arg7His,ENST00000263126,;AKR1CL1,intron_variant,,ENST00000445191,;U8,upstream_gene_variant,,ENST00000516100,;AKR1C4,non_coding_transcript_exon_variant,,ENST00000469875,;	273	122	177	SUCCESS
STOX1	219736	.	GRCh37	10	70646233	70646233	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1254413218	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	20	107	0	ENST00000298596.6:c.2681G>C	p.Arg894Thr	p.R894T	ENST00000298596	NM_152709.4	894	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS41535.1	2681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAGAAAAC	NONE	.	.	hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1	.	.	ENSP00000298596	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000298596	Transcript	1	.	ENSG00000165730	23508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	deleterious(0.01)	.	STOX1_HUMAN	STOX1	HGNC	C9JRL1_HUMAN	.	UPI00004B59B0	SNV	STOX1,missense_variant,p.Arg894Thr,ENST00000298596,;STOX1,missense_variant,p.Arg784Thr,ENST00000421961,;STOX1,missense_variant,p.Arg894Thr,ENST00000399169,;STOX1,intron_variant,,ENST00000399162,;STOX1,intron_variant,,ENST00000399165,;	2764	107	96	SUCCESS
SLC35G1	159371	.	GRCh37	10	95660950	95660950	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	26	154	0	ENST00000427197.1:c.801C>T	p.Val267=	p.V267=	ENST00000427197	NM_001134658.1	267	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44459.1	801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCATCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF35,Pfam_domain:PF00892,Superfamily_domains:0043518	.	.	ENSP00000400932	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000427197	Transcript	.	.	ENSG00000176273	26607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35G1_HUMAN	SLC35G1	HGNC	.	.	UPI000013FE98	SNV	SLC35G1,synonymous_variant,p.%3D,ENST00000427197,;SLC35G1,synonymous_variant,p.%3D,ENST00000371408,;SLC35G1,intron_variant,,ENST00000603665,;SLC35G1,intron_variant,,ENST00000605679,;SLC35G1,intron_variant,,ENST00000483386,;SLC35G1,intron_variant,,ENST00000494992,;	862	154	151	SUCCESS
ZNF518A	9849	.	GRCh37	10	97919710	97919710	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs760950710	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	87	0	ENST00000316045.5:n.2635A>G		p.*879*	ENST00000316045				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CTTCTACTGCA	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	rs760950710	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000316045,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	4488	87	74	SUCCESS
TRPC6	7225	.	GRCh37	11	101344488	101344488	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747089189	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	127	0	ENST00000344327.3:c.1761C>A	p.Asp587Glu	p.D587E	ENST00000344327	NM_004621.5	587	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS8311.1	1761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGTCCCA	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870	.	.	ENSP00000340913	.	7/13	.	.	.	.	.	.	.	.	rs747089189	7/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	tolerated(0.5)	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,missense_variant,p.Asp509Glu,ENST00000532133,;TRPC6,missense_variant,p.Asp471Glu,ENST00000348423,;TRPC6,missense_variant,p.Asp587Glu,ENST00000344327,;TRPC6,missense_variant,p.Asp532Glu,ENST00000360497,;	2186	127	62	SUCCESS
CLDN25	644672	.	GRCh37	11	113650543	113650543	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	28	0	ENST00000453129.2:c.26T>C	p.Val9Ala	p.V9A	ENST00000453129	NM_001101389.1	9	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS44736.1	26	MUTECT|MUSE	.	AAAAGTCCAGC	NONE	.	.	PROSITE_profiles:PS51257,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF87,Pfam_domain:PF00822	.	.	ENSP00000396304	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000453129	Transcript	.	.	ENSG00000228607	37218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.68)	.	CLD25_HUMAN	CLDN25	HGNC	.	.	UPI00000495B4	SNV	CLDN25,missense_variant,p.Val9Ala,ENST00000453129,;	75	28	25	SUCCESS
IGSF9B	22997	.	GRCh37	11	133799662	133799662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	49	1	ENST00000321016.8:c.1535C>A	p.Ala512Asp	p.A512D	ENST00000321016		512	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS61010.1	1535	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCGGGGCATGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000436552	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Ala512Asp,ENST00000533871,;IGSF9B,missense_variant,p.Ala512Asp,ENST00000321016,;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,;	1766	50	35	SUCCESS
PTPN5	84867	.	GRCh37	11	18787389	18787389	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	90	0	ENST00000358540.2:c.62G>A	p.Gly21Glu	p.G21E	ENST00000358540	NM_006906.1	21	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS7845.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCCTCCC	NONE	.	.	hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997	.	.	ENSP00000351342	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000358540	Transcript	.	.	ENSG00000110786	9657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PTN5_HUMAN	PTPN5	HGNC	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN	.	UPI00001AE663	SNV	PTPN5,missense_variant,p.Gly21Glu,ENST00000396167,;PTPN5,missense_variant,p.Gly21Glu,ENST00000396171,;PTPN5,missense_variant,p.Gly21Glu,ENST00000358540,;PTPN5,missense_variant,p.Gly21Glu,ENST00000396170,;PTPN5,5_prime_UTR_variant,,ENST00000396168,;	493	90	87	SUCCESS
CKAP5	9793	.	GRCh37	11	46765632	46765633	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGA	rs765113582	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	148	0	ENST00000529230.1:c.6037_6039dup	p.Ser2013dup	p.S2013dup	ENST00000529230		2013	-/TCC	0	.	.	.	.	.	GGA	-/S	protein_coding	YES	CCDS31477.1	6039-6040	INDELOCATOR|VARSCANI	.	AGCTGTGGAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609	.	.	ENSP00000432768	.	44/44	.	.	.	.	.	.	.	.	rs765113582	44/44	PASS	ENST00000529230	Transcript	.	.	ENSG00000175216	28959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CKAP5_HUMAN	CKAP5	HGNC	E9PQH5_HUMAN	.	UPI000013F21E	insertion	CKAP5,inframe_insertion,p.Ser2020dup,ENST00000415402,;CKAP5,inframe_insertion,p.Ser1953dup,ENST00000354558,;CKAP5,inframe_insertion,p.Ser1953dup,ENST00000312055,;CKAP5,inframe_insertion,p.Ser2013dup,ENST00000529230,;F2,downstream_gene_variant,,ENST00000530231,;F2,downstream_gene_variant,,ENST00000311907,;CKAP5,downstream_gene_variant,,ENST00000525896,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;	6086-6087	148	87	SUCCESS
CCKBR	887	.	GRCh37	11	6291433	6291433	+	synonymous_variant	Silent	SNP	C	C	T	rs1054148069	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	57	1	ENST00000334619.2:c.519C>T	p.Arg173=	p.R173=	ENST00000334619	NM_176875.3	173	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7761.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGCGTGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00527	.	.	ENSP00000335544	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000334619	Transcript	.	.	ENSG00000110148	1571	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GASR_HUMAN	CCKBR	HGNC	.	.	UPI0000000C18	SNV	CCKBR,synonymous_variant,p.%3D,ENST00000525462,;CCKBR,synonymous_variant,p.%3D,ENST00000532715,;CCKBR,synonymous_variant,p.%3D,ENST00000334619,;CCKBR,3_prime_UTR_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,upstream_gene_variant,,ENST00000532396,;	712	58	41	SUCCESS
CCDC88B	283234	.	GRCh37	11	64110657	64110657	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	34	0	ENST00000356786.5:c.1069C>T	p.Arg357Trp	p.R357W	ENST00000356786	NM_032251.5	357	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS8072.2	1069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGGGTG	BUFFER|p.S360S|c.1080G>A|5	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947:SF29,hmmpanther:PTHR18947	.	.	ENSP00000349238	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000356786	Transcript	.	.	ENSG00000168071	26757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	CC88B_HUMAN	CCDC88B	HGNC	.	.	UPI00001FAAA6	SNV	CCDC88B,missense_variant,p.Arg357Trp,ENST00000356786,;CCDC88B,upstream_gene_variant,,ENST00000301897,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494566,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;CCDC88B,upstream_gene_variant,,ENST00000492980,;	1113	34	24	SUCCESS
B3GNT1	0	.	GRCh37	11	66114190	66114190	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	70	0	ENST00000311181.4:c.827T>A	p.Val276Glu	p.V276E	ENST00000311181	NM_006876.2	276	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8136.1	827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACCAGC	NONE	.	.	hmmpanther:PTHR12270:SF20,hmmpanther:PTHR12270,Pfam_domain:PF13896	.	.	ENSP00000309096	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000311181	Transcript	.	.	ENSG00000174684	15685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	deleterious(0)	.	B3GN1_HUMAN	B3GNT1	HGNC	B4DGI0_HUMAN	.	UPI00000358A1	SNV	B3GNT1,missense_variant,p.Val276Glu,ENST00000311181,;BRMS1,upstream_gene_variant,,ENST00000359957,;BRMS1,upstream_gene_variant,,ENST00000524699,;RP11-867G23.8,upstream_gene_variant,,ENST00000531602,;BRMS1,upstream_gene_variant,,ENST00000530756,;BRMS1,upstream_gene_variant,,ENST00000425825,;RP11-867G23.8,upstream_gene_variant,,ENST00000581155,;RP11-867G23.8,upstream_gene_variant,,ENST00000580881,;BRMS1,upstream_gene_variant,,ENST00000529544,;BRMS1,upstream_gene_variant,,ENST00000530238,;BRMS1,upstream_gene_variant,,ENST00000534617,;BRMS1,upstream_gene_variant,,ENST00000527375,;BRMS1,upstream_gene_variant,,ENST00000525127,;	974	70	42	SUCCESS
NUMA1	4926	.	GRCh37	11	71725431	71725431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754504305	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	50	0	ENST00000393695.3:c.3118G>A	p.Glu1040Lys	p.E1040K	ENST00000393695	NM_006185.2	1040	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31633.1	3118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCGTTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	.	.	ENSP00000377298	.	15/27	.	.	.	.	.	.	.	.	rs754504305	15/27	PASS	ENST00000393695	Transcript	.	.	ENSG00000137497	8059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	NUMA1_HUMAN	NUMA1	HGNC	Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN	.	UPI000013DB8B	SNV	NUMA1,missense_variant,p.Glu1040Lys,ENST00000393695,;NUMA1,missense_variant,p.Glu1040Lys,ENST00000358965,;NUMA1,intron_variant,,ENST00000351960,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000537217,;NUMA1,downstream_gene_variant,,ENST00000543937,;NUMA1,downstream_gene_variant,,ENST00000542977,;NUMA1,downstream_gene_variant,,ENST00000544238,;RP11-849H4.4,non_coding_transcript_exon_variant,,ENST00000502284,;NUMA1,downstream_gene_variant,,ENST00000540843,;NUMA1,downstream_gene_variant,,ENST00000534987,;NUMA1,downstream_gene_variant,,ENST00000536119,;NUMA1,upstream_gene_variant,,ENST00000545721,;NUMA1,upstream_gene_variant,,ENST00000540588,;	3450	50	20	SUCCESS
PGM2L1	283209	.	GRCh37	11	74058249	74058249	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	21	138	0	ENST00000298198.4:c.883G>A	p.Asp295Asn	p.D295N	ENST00000298198	NM_173582.3	295	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS8231.1	883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCAGGAT	NONE	.	.	Superfamily_domains:SSF53738,Pfam_domain:PF02879,Gene3D:3.40.120.10,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF42	.	.	ENSP00000298198	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000298198	Transcript	.	.	ENSG00000165434	20898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PGM2L_HUMAN	PGM2L1	HGNC	.	.	UPI0000072053	SNV	PGM2L1,missense_variant,p.Asp295Asn,ENST00000298198,;	1195	138	90	SUCCESS
KCNE3	10008	.	GRCh37	11	74168597	74168597	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	127	0	ENST00000310128.4:c.12C>T	p.Thr4=	p.T4=	ENST00000310128	NM_005472.4	4	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8232.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTGGTAGT	NONE	.	.	hmmpanther:PTHR15282:SF6,hmmpanther:PTHR15282,Prints_domain:PR01606	.	.	ENSP00000310557	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000310128	Transcript	.	.	ENSG00000175538	6243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNE3_HUMAN	KCNE3	HGNC	Q6IAE6_HUMAN,Q2N1I1_HUMAN,E9PN03_HUMAN,E9PJV9_HUMAN	.	UPI000012F15C	SNV	KCNE3,synonymous_variant,p.%3D,ENST00000531854,;KCNE3,synonymous_variant,p.%3D,ENST00000310128,;KCNE3,synonymous_variant,p.%3D,ENST00000529425,;KCNE3,synonymous_variant,p.%3D,ENST00000532569,;KCNE3,synonymous_variant,p.%3D,ENST00000526855,;KCNE3,synonymous_variant,p.%3D,ENST00000525550,;RP11-702H23.4,intron_variant,,ENST00000533008,;RP11-702H23.6,downstream_gene_variant,,ENST00000530510,;	432	127	84	SUCCESS
PPFIBP2	8495	.	GRCh37	11	7647047	7647070	+	inframe_deletion	In_Frame_Del	DEL	GATGCAGAAATTGAGCGTCTGCAC	GATGCAGAAATTGAGCGTCTGCAC	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	GATGCAGAAATTGAGCGTCTGCAC	GATGCAGAAATTGAGCGTCTGCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	99	20	195	0	ENST00000299492.4:c.751_774del	p.Asp251_His258del	p.D251_H258del	ENST00000299492	NM_003621.3	251	GATGCAGAAATTGAGCGTCTGCAC/-	0	.	.	.	.	.	-	DAEIERLH/-	protein_coding	YES	CCDS31419.1	751-774	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAAAGATGCAGAAATTGAGCGTCTGCACAGCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02920,hmmpanther:PTHR12587:SF18,hmmpanther:PTHR12587	.	.	ENSP00000299492	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000299492	Transcript	.	.	ENSG00000166387	9250	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIPB2_HUMAN	PPFIBP2	HGNC	E9PP16_HUMAN,E9PMN3_HUMAN,E9PMH3_HUMAN,E9PK17_HUMAN,E9PJA0_HUMAN,E9PIK8_HUMAN,B3KM46_HUMAN	.	UPI00001C1EF8	deletion	PPFIBP2,inframe_deletion,p.Asp139_His146del,ENST00000528883,;PPFIBP2,inframe_deletion,p.Asp108_His115del,ENST00000530181,;PPFIBP2,inframe_deletion,p.Asp251_His258del,ENST00000299492,;PPFIBP2,inframe_deletion,p.Asp93_His100del,ENST00000529575,;PPFIBP2,inframe_deletion,p.Asp93_His100del,ENST00000533792,;PPFIBP2,downstream_gene_variant,,ENST00000525597,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000532416,;	1139-1162	195	119	SUCCESS
RSF1	51773	.	GRCh37	11	77386183	77386183	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760382927	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	97	0	ENST00000308488.6:c.3460C>T	p.Arg1154Trp	p.R1154W	ENST00000308488		1154	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8253.1	3460	MUTECT|MUSE	.	TGGCCGAGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	14/16	.	.	.	.	.	.	.	.	rs760382927	14/16	PASS	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	SNV	RSF1,missense_variant,p.Arg902Trp,ENST00000480887,;RSF1,missense_variant,p.Arg1154Trp,ENST00000308488,;RSF1,missense_variant,p.Arg263Trp,ENST00000531026,;RSF1,missense_variant,p.Arg1123Trp,ENST00000360355,;RSF1,non_coding_transcript_exon_variant,,ENST00000529470,;	3763	97	48	SUCCESS
HCFC2	29915	.	GRCh37	12	104474581	104474581	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	33	126	0	ENST00000229330.4:c.741del	p.His248IlefsTer6	p.H248Ifs*6	ENST00000229330	NM_013320.2	247	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS9097.1	740	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGCCTTCATA	NONE	.	.	hmmpanther:PTHR23244:SF288,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13415,Superfamily_domains:0052715	.	.	ENSP00000229330	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000229330	Transcript	.	.	ENSG00000111727	24972	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HCFC2_HUMAN	HCFC2	HGNC	F8VU09_HUMAN	.	UPI000006CF31	deletion	HCFC2,frameshift_variant,p.His248IlefsTer6,ENST00000229330,;HCFC2,downstream_gene_variant,,ENST00000550444,;HCFC2,frameshift_variant,p.His248IlefsTer6,ENST00000544223,;HCFC2,non_coding_transcript_exon_variant,,ENST00000547194,;	844	126	150	SUCCESS
SETD1B	23067	.	GRCh37	12	122260499	122260499	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	83	0	ENST00000604567.1:c.4014G>T	p.Pro1338=	p.P1338=	ENST00000604567		1338	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS53838.1	3885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGGAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	.	.	ENSP00000267197	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000267197	Transcript	.	.	ENSG00000139718	29187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,synonymous_variant,p.%3D,ENST00000604567,;SETD1B,synonymous_variant,p.%3D,ENST00000542440,;SETD1B,synonymous_variant,p.%3D,ENST00000267197,;	3891	83	70	SUCCESS
EP400NL	0	.	GRCh37	12	132589821	132589821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	92	0	ENST00000443539.2:c.860A>T	p.Glu287Val	p.E287V	ENST00000443539		287	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	.	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF599	.	.	ENSP00000404338	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000443539	Transcript	.	.	ENSG00000185684	26602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious_low_confidence(0)	.	E400N_HUMAN	EP400NL	HGNC	F2Z2G7_HUMAN	.	UPI00003E27F2	SNV	EP400NL,missense_variant,p.Glu287Val,ENST00000392352,;EP400NL,missense_variant,p.Glu350Val,ENST00000389560,;EP400NL,missense_variant,p.Glu287Val,ENST00000443539,;EP400NL,missense_variant,p.Glu419Val,ENST00000376625,;EP400NL,missense_variant,p.Glu266Val,ENST00000361109,;EP400NL,downstream_gene_variant,,ENST00000539205,;EP400NL,downstream_gene_variant,,ENST00000407361,;EP400NL,downstream_gene_variant,,ENST00000454179,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,missense_variant,p.Glu351Val,ENST00000332441,;EP400NL,missense_variant,p.Glu419Val,ENST00000446190,;	1401	92	78	SUCCESS
NEUROD4	58158	.	GRCh37	12	55420588	55420588	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	30	110	0	ENST00000242994.3:c.365A>G	p.Lys122Arg	p.K122R	ENST00000242994	NM_021191.2	122	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS8886.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAAACTTT	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF86,Gene3D:4.10.280.10,Pfam_domain:PF00010,PIRSF_domain:PIRSF015618,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000242994	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242994	Transcript	.	.	ENSG00000123307	13802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NDF4_HUMAN	NEUROD4	HGNC	Q8IW56_HUMAN	.	UPI000013CB1E	SNV	NEUROD4,missense_variant,p.Lys122Arg,ENST00000242994,;	743	110	117	SUCCESS
PTPRB	5787	.	GRCh37	12	71016198	71016198	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1477501709	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	79	0	ENST00000334414.6:c.680C>G	p.Thr227Ser	p.T227S	ENST00000334414	NM_001109754.2	227	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS44943.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGTAGTC	NONE	.	.	.	.	.	ENSP00000334928	.	3/34	.	.	.	.	.	.	.	.	.	3/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	tolerated_low_confidence(0.09)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Thr227Ser,ENST00000550358,;PTPRB,missense_variant,p.Thr226Ser,ENST00000551525,;PTPRB,missense_variant,p.Thr106Ser,ENST00000548122,;PTPRB,missense_variant,p.Thr227Ser,ENST00000334414,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	725	79	72	SUCCESS
HAL	3034	.	GRCh37	12	96384225	96384225	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	115	0	ENST00000261208.3:c.801A>G	p.Leu267=	p.L267=	ENST00000261208	NM_002108.3	267	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9058.1	801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACTAGCCC	NONE	.	.	Superfamily_domains:SSF48557,Pfam_domain:PF00221,Gene3D:1.10.275.10,TIGRFAM_domain:TIGR01225,hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7	.	.	ENSP00000261208	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000261208	Transcript	.	.	ENSG00000084110	4806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HUTH_HUMAN	HAL	HGNC	Q2PH61_HUMAN,Q2PH60_HUMAN,Q2PH56_HUMAN	.	UPI000012CE8E	SNV	HAL,synonymous_variant,p.%3D,ENST00000541929,;HAL,synonymous_variant,p.%3D,ENST00000261208,;HAL,synonymous_variant,p.%3D,ENST00000552509,;HAL,synonymous_variant,p.%3D,ENST00000538703,;HAL,downstream_gene_variant,,ENST00000546579,;HAL,non_coding_transcript_exon_variant,,ENST00000551562,;HAL,3_prime_UTR_variant,,ENST00000544080,;HAL,3_prime_UTR_variant,,ENST00000546999,;HAL,non_coding_transcript_exon_variant,,ENST00000549376,;HAL,upstream_gene_variant,,ENST00000548636,;	1170	115	101	SUCCESS
ZIC2	7546	.	GRCh37	13	100635334	100635334	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775296747	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	48	117	0	ENST00000376335.3:c.1016G>T	p.Gly339Val	p.G339V	ENST00000376335	NM_007129.3	339	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9495.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGCTGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000365514	.	1/3	.	.	.	.	.	.	.	.	rs775296747	1/3	PASS	ENST00000376335	Transcript	.	.	ENSG00000043355	12873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	ZIC2_HUMAN	ZIC2	HGNC	.	.	UPI000013C3DC	SNV	ZIC2,missense_variant,p.Gly339Val,ENST00000376335,;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000490085,;ZIC2,upstream_gene_variant,,ENST00000481565,;	1309	117	107	SUCCESS
PCID2	55795	.	GRCh37	13	113835450	113835450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	104	0	ENST00000337344.4:c.780G>A	p.Met260Ile	p.M260I	ENST00000337344	NM_001127202.2	260	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS58302.1	942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGCATTTT	NONE	.	.	hmmpanther:PTHR12732,SMART_domains:SM00753	.	.	ENSP00000246505	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000246505	Transcript	.	.	ENSG00000126226	25653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	deleterious(0.02)	.	PCID2_HUMAN	PCID2	HGNC	.	.	UPI00001AEF24	SNV	PCID2,missense_variant,p.Met260Ile,ENST00000375477,;PCID2,missense_variant,p.Met258Ile,ENST00000375459,;PCID2,missense_variant,p.Met260Ile,ENST00000375479,;PCID2,missense_variant,p.Met260Ile,ENST00000337344,;PCID2,missense_variant,p.Met314Ile,ENST00000246505,;PCID2,missense_variant,p.Met258Ile,ENST00000375457,;PCID2,non_coding_transcript_exon_variant,,ENST00000480971,;PCID2,non_coding_transcript_exon_variant,,ENST00000484641,;PCID2,non_coding_transcript_exon_variant,,ENST00000473462,;PCID2,non_coding_transcript_exon_variant,,ENST00000475433,;PCID2,non_coding_transcript_exon_variant,,ENST00000493650,;PCID2,upstream_gene_variant,,ENST00000462653,;PCID2,upstream_gene_variant,,ENST00000463102,;	977	104	114	SUCCESS
LAMP1	3916	.	GRCh37	13	113975881	113975881	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	14	117	0	ENST00000332556.4:c.953T>G	p.Phe318Cys	p.F318C	ENST00000332556	NM_005561.3	318	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS41909.1	953	MUTECT|MUSE|VARSCANS	.	TGCCTTTAAAG	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF27,Pfam_domain:PF01299	.	.	ENSP00000333298	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000332556	Transcript	.	.	ENSG00000185896	6499	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	LAMP1_HUMAN	LAMP1	HGNC	B3KRY3_HUMAN	.	UPI0000072D40	SNV	LAMP1,missense_variant,p.Phe318Cys,ENST00000332556,;LAMP1,missense_variant,p.Phe265Cys,ENST00000397181,;GRTP1,downstream_gene_variant,,ENST00000375431,;GRTP1,downstream_gene_variant,,ENST00000375430,;GRTP1,downstream_gene_variant,,ENST00000326039,;LAMP1,upstream_gene_variant,,ENST00000471046,;LAMP1,non_coding_transcript_exon_variant,,ENST00000472564,;	1147	117	144	SUCCESS
LAMP1	3916	.	GRCh37	13	113975888	113975888	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	14	114	0	ENST00000332556.4:c.960del	p.Ala321ProfsTer63	p.A321Pfs*63	ENST00000332556	NM_005561.3	320	gcT/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS41909.1	960	INDELOCATOR|VARSCANI	.	TAAAGCTGCCAA	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF27,Pfam_domain:PF01299	.	.	ENSP00000333298	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000332556	Transcript	.	.	ENSG00000185896	6499	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMP1_HUMAN	LAMP1	HGNC	B3KRY3_HUMAN	.	UPI0000072D40	deletion	LAMP1,frameshift_variant,p.Ala321ProfsTer63,ENST00000332556,;LAMP1,frameshift_variant,p.Ala268ProfsTer63,ENST00000397181,;GRTP1,downstream_gene_variant,,ENST00000375431,;GRTP1,downstream_gene_variant,,ENST00000375430,;GRTP1,downstream_gene_variant,,ENST00000326039,;LAMP1,upstream_gene_variant,,ENST00000471046,;LAMP1,non_coding_transcript_exon_variant,,ENST00000472564,;	1154	114	146	SUCCESS
RNF17	56163	.	GRCh37	13	25433293	25433293	+	synonymous_variant	Silent	SNP	C	C	T	rs180999676	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	33	106	0	ENST00000255324.5:c.3765C>T	p.Gly1255=	p.G1255=	ENST00000255324	NM_031277.2	1255	ggC/ggT	0	.	T:0	.	T:0.0014	.	T	G	protein_coding	YES	CCDS9308.2	3765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCGCTGT	NONE	by1000G	.	PROSITE_profiles:PS50304,hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,SMART_domains:SM00333,Superfamily_domains:SSF63748	T:0	.	ENSP00000255324	T:0	26/36	.	.	.	.	.	.	.	.	rs180999676	26/36	PASS	ENST00000255324	Transcript	.	T:0.0002	ENSG00000132972	10060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,synonymous_variant,p.%3D,ENST00000255324,;RNF17,synonymous_variant,p.%3D,ENST00000381921,;RNF17,synonymous_variant,p.%3D,ENST00000339524,;RNF17,synonymous_variant,p.%3D,ENST00000418120,;	3817	106	88	SUCCESS
KL	9365	.	GRCh37	13	33629230	33629230	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	29	151	0	ENST00000380099.3:c.1377C>G	p.Ser459=	p.S459=	ENST00000380099	NM_004795.3	459	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9347.1	1377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCCTCAT	NONE	.	.	hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445,Prints_domain:PR00131	.	.	ENSP00000369442	.	3/5	.	.	.	.	.	.	.	.	COSM234880	3/5	PASS	ENST00000380099	Transcript	.	.	ENSG00000133116	6344	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KLOT_HUMAN	KL	HGNC	G3XKV3_HUMAN	.	UPI000013CEBA	SNV	KL,synonymous_variant,p.%3D,ENST00000426690,;KL,synonymous_variant,p.%3D,ENST00000380099,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;	1385	151	135	SUCCESS
CKAP2	26586	.	GRCh37	13	53039581	53039581	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	40	186	0	ENST00000378037.5:c.1460C>G	p.Ala487Gly	p.A487G	ENST00000378037	NM_018204.3	487	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS41893.1	1460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCCATTC	NONE	.	.	hmmpanther:PTHR16076:SF8,hmmpanther:PTHR16076,Pfam_domain:PF15297	.	.	ENSP00000367276	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000378037	Transcript	.	.	ENSG00000136108	1990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.02)	.	CKAP2_HUMAN	CKAP2	HGNC	C9J7Y4_HUMAN,C9J649_HUMAN	.	UPI000006DA2D	SNV	CKAP2,missense_variant,p.Ala487Gly,ENST00000378037,;CKAP2,missense_variant,p.Ala486Gly,ENST00000378034,;CKAP2,missense_variant,p.Ala438Gly,ENST00000490903,;CKAP2,missense_variant,p.Ala486Gly,ENST00000258607,;CKAP2,downstream_gene_variant,,ENST00000480747,;CKAP2,downstream_gene_variant,,ENST00000468284,;	1550	187	151	SUCCESS
IGHV3-20	28445	.	GRCh37	14	106667847	106667847	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782268145	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	84	0	ENST00000390606.2:c.85G>T	p.Gly29Cys	p.G29C	ENST00000390606		29	Ggt/Tgt	0	.	.	.	.	.	A	G/C	IG_V_gene	YES	.	85	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACCTCCCC	NONE	byFrequency	.	hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000375015	.	2/2	.	.	.	.	.	.	.	.	rs782268145	2/2	PASS	ENST00000390606	Transcript	.	.	ENSG00000211946	5585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious_low_confidence(0.01)	.	.	IGHV3-20	HGNC	.	.	UPI000011AAD8	SNV	IGHV3-20,missense_variant,p.Gly29Cys,ENST00000390606,;AB019440.50,downstream_gene_variant,,ENST00000605005,;AB019440.1,downstream_gene_variant,,ENST00000408253,;IGHVII-20-1,downstream_gene_variant,,ENST00000520338,;	147	84	49	SUCCESS
FBXO33	254170	.	GRCh37	14	39868982	39868982	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	50	166	0	ENST00000298097.7:c.1406T>A	p.Val469Glu	p.V469E	ENST00000298097	NM_203301.3	469	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS9677.1	1406	RADIA|MUTECT|MUSE	.	CCCACACCGTG	NONE	.	.	Gene3D:3.80.10.10,hmmpanther:PTHR20933	.	.	ENSP00000298097	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298097	Transcript	.	.	ENSG00000165355	19833	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	FBX33_HUMAN	FBXO33	HGNC	B4DFK5_HUMAN	.	UPI00001605E2	SNV	FBXO33,missense_variant,p.Val469Glu,ENST00000298097,;FBXO33,synonymous_variant,p.%3D,ENST00000554190,;	1744	167	115	SUCCESS
MDGA2	161357	.	GRCh37	14	48143777	48143777	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748391283	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	147	0	ENST00000399232.2:c.16G>T	p.Gly6Cys	p.G6C	ENST00000399232	NM_001113498.2	6	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	.	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACCGTACA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62	.	.	ENSP00000400011	.	1/17	.	.	.	.	.	.	.	.	rs748391283	1/17	PASS	ENST00000439988	Transcript	.	.	ENSG00000272781	19835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	tolerated_low_confidence(0.08)	.	MDGA2_HUMAN	MDGA2	Uniprot_gn	F8WE89_HUMAN	.	UPI0001DD21C1	SNV	MDGA2,missense_variant,p.Gly75Cys,ENST00000439988,;MDGA2,missense_variant,p.Gly6Cys,ENST00000399232,;	223	147	94	SUCCESS
ATL1	51062	.	GRCh37	14	51079994	51079994	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	104	0	ENST00000358385.6:c.648T>C	p.Val216=	p.V216=	ENST00000358385	NM_015915.4	216	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS9700.1	648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTTCGAGA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF02263,hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751,PROSITE_profiles:PS51715	.	.	ENSP00000351155	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000358385	Transcript	.	.	ENSG00000198513	11231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATLA1_HUMAN	ATL1	HGNC	G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN	.	UPI0000073893	SNV	ATL1,synonymous_variant,p.%3D,ENST00000354525,;ATL1,synonymous_variant,p.%3D,ENST00000441560,;ATL1,synonymous_variant,p.%3D,ENST00000554886,;ATL1,synonymous_variant,p.%3D,ENST00000357032,;ATL1,synonymous_variant,p.%3D,ENST00000358385,;ATL1,upstream_gene_variant,,ENST00000555266,;	889	104	102	SUCCESS
PCNX	0	.	GRCh37	14	71479802	71479802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	101	0	ENST00000304743.2:c.2879A>G	p.Tyr960Cys	p.Y960C	ENST00000304743	NM_014982.2	960	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9806.1	2879	RADIA|MUTECT|MUSE	.	TACTTACGGCC	NONE	.	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	11/36	.	.	.	.	.	.	.	.	.	11/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.375)	.	tolerated(0.18)	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,missense_variant,p.Tyr19Cys,ENST00000554691,;PCNX,missense_variant,p.Tyr960Cys,ENST00000238570,;PCNX,missense_variant,p.Tyr849Cys,ENST00000439984,;PCNX,missense_variant,p.Tyr960Cys,ENST00000304743,;PCNX,downstream_gene_variant,,ENST00000556846,;PCNX,downstream_gene_variant,,ENST00000554879,;	3325	101	66	SUCCESS
PCNX	0	.	GRCh37	14	71479827	71479827	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	94	0	ENST00000304743.2:c.2904A>G	p.Gln968=	p.Q968=	ENST00000304743	NM_014982.2	968	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS9806.1	2904	RADIA|MUTECT|MUSE	.	GCCCAAAAGGT	NONE	.	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	11/36	.	.	.	.	.	.	.	.	.	11/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,synonymous_variant,p.%3D,ENST00000554691,;PCNX,synonymous_variant,p.%3D,ENST00000238570,;PCNX,synonymous_variant,p.%3D,ENST00000439984,;PCNX,synonymous_variant,p.%3D,ENST00000304743,;PCNX,downstream_gene_variant,,ENST00000556846,;PCNX,downstream_gene_variant,,ENST00000554879,;	3350	94	64	SUCCESS
C14orf166B	0	.	GRCh37	14	77297607	77297607	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	135	0	ENST00000393774.3:c.279G>A	p.Met93Ile	p.M93I	ENST00000393774	NM_194287.2	93	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9853.2	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGGGTGT	NONE	.	.	hmmpanther:PTHR24114:SF0,hmmpanther:PTHR24114,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000377369	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000393774	Transcript	.	.	ENSG00000100565	23346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.12)	.	CN16B_HUMAN	C14orf166B	HGNC	.	.	UPI000155D520	SNV	C14orf166B,missense_variant,p.Met76Ile,ENST00000450042,;C14orf166B,missense_variant,p.Met93Ile,ENST00000393774,;C14orf166B,downstream_gene_variant,,ENST00000555189,;C14orf166B,downstream_gene_variant,,ENST00000216453,;C14orf166B,non_coding_transcript_exon_variant,,ENST00000460005,;C14orf166B,missense_variant,p.Met93Ile,ENST00000216450,;C14orf166B,3_prime_UTR_variant,,ENST00000557453,;C14orf166B,3_prime_UTR_variant,,ENST00000484640,;	403	135	90	SUCCESS
OR4M2	390538	.	GRCh37	15	22368941	22368941	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	113	0	ENST00000332663.2:c.366C>T	p.Leu122=	p.L122=	ENST00000332663	NM_001004719.2	122	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32172.1	366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTCTACAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,synonymous_variant,p.%3D,ENST00000332663,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	464	113	101	SUCCESS
EMC4	51234	.	GRCh37	15	34517257	34517257	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	35	0	ENST00000267750.4:c.-59C>T		p.*20*	ENST00000267750	NM_016454.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10035.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTGTTG	NONE	.	.	.	.	.	ENSP00000267750	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000267750	Transcript	.	.	ENSG00000128463	28032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC4_HUMAN	EMC4	HGNC	.	.	UPI00000708AF	SNV	EMC4,5_prime_UTR_variant,,ENST00000557879,;EMC4,5_prime_UTR_variant,,ENST00000249209,;EMC4,5_prime_UTR_variant,,ENST00000561372,;EMC4,5_prime_UTR_variant,,ENST00000267750,;EMC4,5_prime_UTR_variant,,ENST00000559078,;EMC4,upstream_gene_variant,,ENST00000559421,;EMC4,upstream_gene_variant,,ENST00000560947,;EMC4,5_prime_UTR_variant,,ENST00000558205,;EMC4,5_prime_UTR_variant,,ENST00000560911,;EMC4,5_prime_UTR_variant,,ENST00000558102,;EMC4,non_coding_transcript_exon_variant,,ENST00000557941,;EMC4,upstream_gene_variant,,ENST00000561246,;EMC4,upstream_gene_variant,,ENST00000558810,;	58	35	50	SUCCESS
TMEM62	80021	.	GRCh37	15	43446911	43446911	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	70	0	ENST00000260403.2:c.1065del	p.Lys356ArgfsTer7	p.K356Rfs*7	ENST00000260403	NM_024956.3	355	gTt/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS32210.1	1064	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACAGTTAAGA	NONE	.	.	hmmpanther:PTHR14795	.	.	ENSP00000260403	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000260403	Transcript	.	.	ENSG00000137842	26269	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMM62_HUMAN	TMEM62	HGNC	H3BTT1_HUMAN,H3BPV2_HUMAN	.	UPI00004443FD	deletion	TMEM62,frameshift_variant,p.Lys356ArgfsTer7,ENST00000260403,;TMEM62,frameshift_variant,p.Lys288ArgfsTer7,ENST00000564494,;EPB42,intron_variant,,ENST00000570199,;TMEM62,downstream_gene_variant,,ENST00000568182,;TMEM62,downstream_gene_variant,,ENST00000567441,;	1343	70	87	SUCCESS
HS3ST6	64711	.	GRCh37	16	1961878	1961878	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	109	0	ENST00000293937.3:c.742A>G	p.Ser248Gly	p.S248G	ENST00000293937		248	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS45381.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCTGACGA	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000390354	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000443547	Transcript	.	.	ENSG00000162040	14178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	.	HS3ST6	HGNC	C9JH64_HUMAN	.	UPI0000E02544	SNV	HS3ST6,missense_variant,p.Ser248Gly,ENST00000293937,;HS3ST6,missense_variant,p.Ser217Gly,ENST00000443547,;HS3ST6,missense_variant,p.Ser265Gly,ENST00000454677,;	649	109	99	SUCCESS
LAT	27040	.	GRCh37	16	29001280	29001280	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	74	0	ENST00000360872.5:c.736G>T	p.Glu246Ter	p.E246*	ENST00000360872		246	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS53999.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGAAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15586,Pfam_domain:PF15234	.	.	ENSP00000378845	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000395461	Transcript	.	.	ENSG00000213658	18874	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LAT	HGNC	B7WPI0_HUMAN	.	UPI00005A7621	SNV	LAT,stop_gained,p.Glu253Ter,ENST00000395461,;LAT,stop_gained,p.Glu236Ter,ENST00000354453,;LAT,stop_gained,p.Glu216Ter,ENST00000564277,;LAT,stop_gained,p.Glu217Ter,ENST00000395456,;LAT,stop_gained,p.Glu246Ter,ENST00000360872,;LAT,stop_gained,p.Glu216Ter,ENST00000454369,;LAT,stop_gained,p.Glu245Ter,ENST00000566177,;LAT,intron_variant,,ENST00000570232,;RP11-264B17.5,intron_variant,,ENST00000561471,;LAT,downstream_gene_variant,,ENST00000563964,;LAT,3_prime_UTR_variant,,ENST00000562701,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;LAT,non_coding_transcript_exon_variant,,ENST00000564447,;LAT,non_coding_transcript_exon_variant,,ENST00000566415,;LAT,non_coding_transcript_exon_variant,,ENST00000568899,;LAT,downstream_gene_variant,,ENST00000562472,;LAT,downstream_gene_variant,,ENST00000566270,;LAT,downstream_gene_variant,,ENST00000568440,;	793	74	62	SUCCESS
TAOK2	9344	.	GRCh37	16	29998697	29998697	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs144609126	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	72	0	ENST00000308893.4:c.3104G>T	p.Arg1035Leu	p.R1035L	ENST00000308893	NM_016151.3	1035	cGc/cTc	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS10663.1	3104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCCGAG	NONE	byCluster	.	.	.	A:0	ENSP00000310094	.	16/16	.	.	.	.	.	.	.	.	rs144609126	16/16	PASS	ENST00000308893	Transcript	.	.	ENSG00000149930	16835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.15)	.	TAOK2_HUMAN	TAOK2	HGNC	.	.	UPI000013EDDA	SNV	TAOK2,missense_variant,p.Arg862Leu,ENST00000416441,;TAOK2,missense_variant,p.Arg922Leu,ENST00000543033,;TAOK2,missense_variant,p.Arg1035Leu,ENST00000308893,;TAOK2,intron_variant,,ENST00000279394,;HIRIP3,downstream_gene_variant,,ENST00000279392,;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,;	4147	72	67	SUCCESS
BRD7	29117	.	GRCh37	16	50357578	50357578	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	86	0	ENST00000394688.3:c.1363T>A	p.Tyr455Asn	p.Y455N	ENST00000394688		455	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS54007.1	1363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATAATCTT	NONE	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,missense_variant,p.Tyr455Asn,ENST00000394688,;BRD7,missense_variant,p.Tyr455Asn,ENST00000394689,;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;	1368	86	74	SUCCESS
CHD9	80205	.	GRCh37	16	53307551	53307551	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	109	379	0	ENST00000398510.3:c.4731T>A	p.Pro1577=	p.P1577=	ENST00000398510		1577	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45485.1	4731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTGTACC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	.	.	ENSP00000457466	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,synonymous_variant,p.%3D,ENST00000566029,;CHD9,synonymous_variant,p.%3D,ENST00000447540,;CHD9,synonymous_variant,p.%3D,ENST00000564845,;CHD9,synonymous_variant,p.%3D,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	4940	379	341	SUCCESS
KIFC3	3801	.	GRCh37	16	57805304	57805304	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	85	0	ENST00000379655.4:c.571A>G	p.Met191Val	p.M191V	ENST00000379655	NM_005550.3	191	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS10789.2	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCATCTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000368976	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000379655	Transcript	.	.	ENSG00000140859	6326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.67)	.	KIFC3_HUMAN	KIFC3	HGNC	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN	.	UPI000059D399	SNV	KIFC3,missense_variant,p.Met52Val,ENST00000562984,;KIFC3,missense_variant,p.Met133Val,ENST00000539578,;KIFC3,missense_variant,p.Met52Val,ENST00000543930,;KIFC3,missense_variant,p.Met191Val,ENST00000379655,;KIFC3,missense_variant,p.Met52Val,ENST00000562311,;KIFC3,missense_variant,p.Met82Val,ENST00000569222,;KIFC3,missense_variant,p.Met89Val,ENST00000540079,;KIFC3,missense_variant,p.Met133Val,ENST00000562503,;KIFC3,missense_variant,p.Met52Val,ENST00000421376,;KIFC3,missense_variant,p.Met52Val,ENST00000465878,;KIFC3,missense_variant,p.Met52Val,ENST00000565481,;KIFC3,missense_variant,p.Met191Val,ENST00000445690,;KIFC3,missense_variant,p.Met213Val,ENST00000541240,;KIFC3,missense_variant,p.Met52Val,ENST00000562903,;KIFC3,missense_variant,p.Met52Val,ENST00000569112,;KIFC3,downstream_gene_variant,,ENST00000565684,;KIFC3,downstream_gene_variant,,ENST00000566648,;KIFC3,downstream_gene_variant,,ENST00000565351,;KIFC3,downstream_gene_variant,,ENST00000561524,;KIFC3,downstream_gene_variant,,ENST00000569619,;KIFC3,downstream_gene_variant,,ENST00000567204,;KIFC3,downstream_gene_variant,,ENST00000566975,;KIFC3,missense_variant,p.Met52Val,ENST00000564136,;KIFC3,downstream_gene_variant,,ENST00000564204,;	829	86	104	SUCCESS
TCF25	22980	.	GRCh37	16	89977033	89977033	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	55	0	ENST00000263346.8:c.1834C>T	p.Leu612Phe	p.L612F	ENST00000263346	NM_014972.2	612	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS10987.1	1834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCTCTTC	NONE	.	.	hmmpanther:PTHR22684:SF0,hmmpanther:PTHR22684	.	.	ENSP00000263346	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000263346	Transcript	.	.	ENSG00000141002	29181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.01)	.	TCF25_HUMAN	TCF25	HGNC	.	.	UPI000012A80B	SNV	TCF25,missense_variant,p.Ser416Phe,ENST00000263347,;TCF25,missense_variant,p.Leu612Phe,ENST00000263346,;TCF25,missense_variant,p.Ser513Phe,ENST00000562256,;TCF25,missense_variant,p.Ser60Phe,ENST00000566283,;MC1R,upstream_gene_variant,,ENST00000555427,;TCF25,non_coding_transcript_exon_variant,,ENST00000564957,;TCF25,non_coding_transcript_exon_variant,,ENST00000565860,;TCF25,non_coding_transcript_exon_variant,,ENST00000567171,;RP11-566K11.7,non_coding_transcript_exon_variant,,ENST00000570217,;TCF25,non_coding_transcript_exon_variant,,ENST00000570116,;TCF25,downstream_gene_variant,,ENST00000563484,;MC1R,upstream_gene_variant,,ENST00000539976,;	1890	55	50	SUCCESS
CCDC144A	9720	.	GRCh37	17	16615002	16615002	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	82	249	0	ENST00000360524.8:c.1588G>A	p.Glu530Lys	p.E530K	ENST00000360524	NM_014695.1	530	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45621.1	1588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGAAATG	NONE	.	.	hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF0	.	.	ENSP00000439262	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	tolerated(0.08)	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,missense_variant,p.Glu529Lys,ENST00000340621,;CCDC144A,missense_variant,p.Glu530Lys,ENST00000443444,;CCDC144A,missense_variant,p.Glu530Lys,ENST00000360524,;CCDC144A,missense_variant,p.Glu250Lys,ENST00000456009,;CCDC144A,missense_variant,p.Glu530Lys,ENST00000399273,;CCDC144A,downstream_gene_variant,,ENST00000420937,;RN7SL620P,downstream_gene_variant,,ENST00000580704,;CCDC144A,downstream_gene_variant,,ENST00000428950,;CCDC144A,downstream_gene_variant,,ENST00000436374,;CCDC144A,missense_variant,p.Glu530Lys,ENST00000360495,;RP11-219A15.1,missense_variant,p.Glu530Lys,ENST00000448331,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;CCDC144A,downstream_gene_variant,,ENST00000399264,;	1728	250	154	SUCCESS
MYO15A	51168	.	GRCh37	17	18022452	18022473	+	frameshift_variant	Frame_Shift_Del	DEL	GCCGCCGTGGCTACGGCCGCCT	GCCGCCGTGGCTACGGCCGCCT	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	GCCGCCGTGGCTACGGCCGCCT	GCCGCCGTGGCTACGGCCGCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	47	56	191	0	ENST00000205890.5:c.340_361del	p.Arg114GlyfsTer323	p.R114Gfs*323	ENST00000205890	NM_016239.3	113	gGCCGCCGTGGCTACGGCCGCCTg/gg	0	.	.	.	.	.	-	GRRGYGRL/X	protein_coding	YES	CCDS42271.1	338-359	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGC	BUFFER|p.R123R|c.369C>T|3	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000205890	.	2/66	.	.	.	.	.	.	.	.	.	2/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	deletion	MYO15A,frameshift_variant,p.Arg114GlyfsTer323,ENST00000205890,;MYO15A,upstream_gene_variant,,ENST00000583079,;	676-697	191	103	SUCCESS
SLFN11	91607	.	GRCh37	17	33679852	33679852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	32	87	0	ENST00000308377.4:c.2229A>T	p.Lys743Asn	p.K743N	ENST00000308377	NM_152270.3	743	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS11294.1	2229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTTTTTG	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.13)	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,missense_variant,p.Lys743Asn,ENST00000394566,;SLFN11,missense_variant,p.Lys743Asn,ENST00000308377,;SLFN11,3_prime_UTR_variant,,ENST00000592108,;	2502	87	124	SUCCESS
KANSL1	284058	.	GRCh37	17	44111609	44111609	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	33	132	0	ENST00000574590.1:c.2584A>G	p.Ile862Val	p.I862V	ENST00000574590	NM_001193465.1	862	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS11503.1	2584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAATATCAA	NONE	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443	.	.	ENSP00000262419	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	deleterious(0.01)	.	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	SNV	KANSL1,missense_variant,p.Ile156Val,ENST00000393476,;KANSL1,missense_variant,p.Ile798Val,ENST00000575318,;KANSL1,missense_variant,p.Ile862Val,ENST00000574590,;KANSL1,missense_variant,p.Ile862Val,ENST00000432791,;KANSL1,missense_variant,p.Ile862Val,ENST00000262419,;KANSL1,missense_variant,p.Ile862Val,ENST00000572904,;RP11-669E14.6,upstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576137,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,upstream_gene_variant,,ENST00000573682,;KANSL1,upstream_gene_variant,,ENST00000574963,;KANSL1,downstream_gene_variant,,ENST00000572679,;KANSL1,downstream_gene_variant,,ENST00000573286,;	3055	132	171	SUCCESS
SPATA20	64847	.	GRCh37	17	48632950	48632950	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1223677208	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	70	0	ENST00000356488.4:c.2288A>G	p.Tyr763Cys	p.Y763C	ENST00000356488	NM_001258372.1	763	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11571.1	2336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATATGTGT	NONE	.	.	PIRSF_domain:PIRSF006402,hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145	.	.	ENSP00000006658	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,missense_variant,p.Tyr763Cys,ENST00000356488,;SPATA20,missense_variant,p.Tyr779Cys,ENST00000006658,;SPATA20,missense_variant,p.Tyr719Cys,ENST00000393244,;CACNA1G-AS1,downstream_gene_variant,,ENST00000508920,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505793,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505495,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,downstream_gene_variant,,ENST00000505559,;SPATA20,downstream_gene_variant,,ENST00000504271,;SPATA20,downstream_gene_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000511347,;SPATA20,downstream_gene_variant,,ENST00000504265,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000508528,;SPATA20,downstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000512181,;	2456	70	73	SUCCESS
CACNA1G	8913	.	GRCh37	17	48653617	48653617	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	96	275	0	ENST00000359106.5:c.1854C>T	p.Thr618=	p.T618=	ENST00000359106	NM_018896.4	618	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45730.1	1854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCCTCAC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137	.	.	ENSP00000352011	.	8/38	.	.	.	.	.	.	.	.	.	8/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000416767,;CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000514181,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,synonymous_variant,p.%3D,ENST00000504076,;CACNA1G,synonymous_variant,p.%3D,ENST00000511765,;CACNA1G,synonymous_variant,p.%3D,ENST00000511768,;CACNA1G,synonymous_variant,p.%3D,ENST00000503436,;CACNA1G,synonymous_variant,p.%3D,ENST00000503607,;CACNA1G,synonymous_variant,p.%3D,ENST00000506406,;	1854	275	323	SUCCESS
CACNA1G	8913	.	GRCh37	17	48696133	48696133	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	22	135	0	ENST00000359106.5:c.5545G>A	p.Val1849Met	p.V1849M	ENST00000359106	NM_018896.4	1849	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS45730.1	5545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCGTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	33/38	.	.	.	.	.	.	.	.	.	33/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,missense_variant,p.Val1826Met,ENST00000502264,;CACNA1G,missense_variant,p.Val1815Met,ENST00000358244,;CACNA1G,missense_variant,p.Val1849Met,ENST00000515165,;CACNA1G,missense_variant,p.Val1824Met,ENST00000514181,;CACNA1G,missense_variant,p.Val1815Met,ENST00000352832,;CACNA1G,missense_variant,p.Val1826Met,ENST00000360761,;CACNA1G,missense_variant,p.Val1838Met,ENST00000507336,;CACNA1G,missense_variant,p.Val1815Met,ENST00000354983,;CACNA1G,missense_variant,p.Val1804Met,ENST00000513689,;CACNA1G,missense_variant,p.Val1849Met,ENST00000507510,;CACNA1G,missense_variant,p.Val1849Met,ENST00000505165,;CACNA1G,missense_variant,p.Val1792Met,ENST00000514717,;CACNA1G,missense_variant,p.Val1797Met,ENST00000510366,;CACNA1G,missense_variant,p.Val1831Met,ENST00000429973,;CACNA1G,missense_variant,p.Val1815Met,ENST00000510115,;CACNA1G,missense_variant,p.Val1808Met,ENST00000442258,;CACNA1G,missense_variant,p.Val1838Met,ENST00000512389,;CACNA1G,missense_variant,p.Val1856Met,ENST00000514079,;CACNA1G,missense_variant,p.Val1838Met,ENST00000507896,;CACNA1G,missense_variant,p.Val1831Met,ENST00000515411,;CACNA1G,missense_variant,p.Val1804Met,ENST00000513964,;CACNA1G,missense_variant,p.Val1849Met,ENST00000359106,;CACNA1G,missense_variant,p.Val1842Met,ENST00000507609,;CACNA1G,missense_variant,p.Val1815Met,ENST00000503485,;CACNA1G,missense_variant,p.Val1838Met,ENST00000515765,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;	5545	135	119	SUCCESS
TP53	7157	.	GRCh37	17	7574006	7574006	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	67	137	0	ENST00000269305.4:c.1021T>G	p.Phe341Val	p.F341V	ENST00000269305	NM_001126112.2	341	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS11118.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGAACATCT	CODON|p.0?|c.1_1182del1182|6,CODON|p.R342fs*3|c.1023delC|3,BUFFER|p.E343*|c.1027G>T|8,BUFFER|p.E343*|c.1027G>T|5,BUFFER|p.R342P|c.1025G>C|4,BUFFER|p.R342P|c.1025G>C|7,BUFFER|p.R342fs*3|c.1024delC|3,BUFFER|p.R342fs*3|c.1024delC|3,BUFFER|p.R342*|c.1024C>T|49,BUFFER|p.R342*|c.1024C>T|97,BUFFER|p.E339*|c.1015G>T|16,BUFFER|p.E339*|c.1015G>T|7,BUFFER|p.R337H|c.1010G>A|7,BUFFER|p.R337L|c.1010G>T|18,BUFFER|p.R337L|c.1010G>T|14,BUFFER|p.R337H|c.1010G>A|5	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF07710,Gene3D:1olgA00,Superfamily_domains:SSF47719,Prints_domain:PR00386	.	.	ENSP00000269305	.	10/11	.	.	.	.	.	.	.	.	TP53_g.16912del,COSM1386563,COSM1386564	10/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.5)	.	deleterious(0.02)	0,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Phe341Val,ENST00000269305,;TP53,missense_variant,p.Phe341Val,ENST00000445888,;TP53,3_prime_UTR_variant,,ENST00000420246,;TP53,3_prime_UTR_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000359597,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1211	137	98	SUCCESS
PGS1	9489	.	GRCh37	17	76411090	76411090	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	40	93	0	ENST00000262764.6:c.1533G>A	p.Leu511=	p.L511=	ENST00000262764	NM_024419.3	511	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42391.1	1533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12586:SF1,hmmpanther:PTHR12586,Gene3D:3.30.870.10,PIRSF_domain:PIRSF000850,Superfamily_domains:SSF56024	.	.	ENSP00000262764	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000262764	Transcript	.	.	ENSG00000087157	30029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGPS1_HUMAN	PGS1	HGNC	.	.	UPI00000435E5	SNV	PGS1,missense_variant,p.Ala62Thr,ENST00000586355,;PGS1,synonymous_variant,p.%3D,ENST00000329897,;PGS1,synonymous_variant,p.%3D,ENST00000262764,;PGS1,intron_variant,,ENST00000586019,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,non_coding_transcript_exon_variant,,ENST00000585521,;PGS1,3_prime_UTR_variant,,ENST00000588169,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,3_prime_UTR_variant,,ENST00000589426,;PGS1,non_coding_transcript_exon_variant,,ENST00000591996,;	1559	93	93	SUCCESS
CDH2	1000	.	GRCh37	18	25589824	25589824	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	43	0	ENST00000269141.3:c.559A>C	p.Arg187=	p.R187=	ENST00000269141	NM_001792.3	187	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS11891.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTATCAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000269141	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000269141	Transcript	.	.	ENSG00000170558	1759	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH2_HUMAN	CDH2	HGNC	C9JMH2_HUMAN,C9J126_HUMAN	.	UPI000013D7FD	SNV	CDH2,synonymous_variant,p.%3D,ENST00000418492,;CDH2,synonymous_variant,p.%3D,ENST00000399380,;CDH2,synonymous_variant,p.%3D,ENST00000269141,;CDH2,synonymous_variant,p.%3D,ENST00000430882,;CDH2,downstream_gene_variant,,ENST00000413878,;	983	43	59	SUCCESS
FHOD3	80206	.	GRCh37	18	34340640	34340640	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs574765321	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	79	0	ENST00000359247.4:c.3919G>A	p.Ala1307Thr	p.A1307T	ENST00000359247	NM_001281739.1	1307	Gcg/Acg	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS32816.1	3970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGCGGCT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,SMART_domains:SM00498	A:0.003	.	ENSP00000257209	A:0	23/25	.	.	.	.	.	.	.	.	rs574765321	23/25	PASS	ENST00000257209	Transcript	.	A:0.0006	ENSG00000134775	26178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	A:0	tolerated(0.07)	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Ala1286Thr,ENST00000445677,;FHOD3,missense_variant,p.Ala1085Thr,ENST00000592930,;FHOD3,missense_variant,p.Ala1324Thr,ENST00000257209,;FHOD3,missense_variant,p.Ala1507Thr,ENST00000590592,;FHOD3,missense_variant,p.Ala520Thr,ENST00000591635,;FHOD3,missense_variant,p.Ala303Thr,ENST00000592128,;FHOD3,missense_variant,p.Ala1307Thr,ENST00000359247,;FHOD3,intron_variant,,ENST00000585579,;	4092	79	65	SUCCESS
GCDH	2639	.	GRCh37	19	13006809	13006810	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	68	0	ENST00000222214.5:c.514dup	p.Glu172GlyfsTer16	p.E172Gfs*16	ENST00000222214	NM_000159.3	170	aag/aaGg	0	.	.	.	.	.	G	K/KX	protein_coding	YES	CCDS12286.1	509-510	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCAAGGGGG	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF152,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645	.	.	ENSP00000222214	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000222214	Transcript	1	.	ENSG00000105607	4189	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCDH_HUMAN	GCDH	HGNC	.	.	UPI000012B292	insertion	GCDH,frameshift_variant,p.Glu160GlyfsTer?,ENST00000588905,;GCDH,frameshift_variant,p.Glu172GlyfsTer16,ENST00000222214,;GCDH,frameshift_variant,p.Glu128GlyfsTer16,ENST00000422947,;GCDH,frameshift_variant,p.Glu172GlyfsTer16,ENST00000457854,;GCDH,frameshift_variant,p.Glu172GlyfsTer16,ENST00000591470,;GCDH,upstream_gene_variant,,ENST00000590472,;SYCE2,downstream_gene_variant,,ENST00000592819,;GCDH,downstream_gene_variant,,ENST00000589039,;GCDH,upstream_gene_variant,,ENST00000591050,;SYCE2,downstream_gene_variant,,ENST00000293695,;GCDH,downstream_gene_variant,,ENST00000587072,;GCDH,upstream_gene_variant,,ENST00000588242,;GCDH,frameshift_variant,p.Ala191SerfsTer52,ENST00000590530,;GCDH,non_coding_transcript_exon_variant,,ENST00000421816,;GCDH,non_coding_transcript_exon_variant,,ENST00000585420,;GCDH,non_coding_transcript_exon_variant,,ENST00000591043,;GCDH,downstream_gene_variant,,ENST00000590445,;GCDH,downstream_gene_variant,,ENST00000590627,;GCDH,downstream_gene_variant,,ENST00000585760,;GCDH,downstream_gene_variant,,ENST00000587832,;AD000092.3,downstream_gene_variant,,ENST00000464444,;	720-721	68	87	SUCCESS
ZNF430	80264	.	GRCh37	19	21216318	21216318	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	43	153	0	ENST00000261560.5:c.153C>T	p.Cys51=	p.C51=	ENST00000261560	NM_025189.3	51	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS32978.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCCTGGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF41,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000261560	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,synonymous_variant,p.%3D,ENST00000595401,;ZNF430,synonymous_variant,p.%3D,ENST00000594110,;ZNF430,synonymous_variant,p.%3D,ENST00000599548,;ZNF430,synonymous_variant,p.%3D,ENST00000261560,;ZNF430,non_coding_transcript_exon_variant,,ENST00000595833,;	334	153	116	SUCCESS
ZNF568	374900	.	GRCh37	19	37440949	37440949	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	13	108	0	ENST00000333987.7:c.894A>T	p.Arg298Ser	p.R298S	ENST00000333987	NM_001204835.1	298	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS42558.1	894	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAATTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF147,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000334685	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333987	Transcript	.	.	ENSG00000198453	25392	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN568_HUMAN	ZNF568	HGNC	A2VDJ6_HUMAN	.	UPI000059D700	SNV	ZNF568,missense_variant,p.Arg234Ser,ENST00000415168,;ZNF568,missense_variant,p.Arg298Ser,ENST00000333987,;ZNF568,missense_variant,p.Arg234Ser,ENST00000587857,;ZNF568,intron_variant,,ENST00000455427,;ZNF568,intron_variant,,ENST00000444991,;ZNF568,intron_variant,,ENST00000427117,;	1400	108	106	SUCCESS
RYR1	6261	.	GRCh37	19	38995678	38995678	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	143	0	ENST00000359596.3:c.8267A>G	p.Asn2756Ser	p.N2756S	ENST00000359596		2756	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33011.1	8267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTAACAAGT	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026	.	.	ENSP00000352608	.	52/106	.	.	.	.	.	.	.	.	.	52/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Asn2756Ser,ENST00000355481,;RYR1,missense_variant,p.Asn2756Ser,ENST00000360985,;RYR1,missense_variant,p.Asn2756Ser,ENST00000359596,;RYR1,missense_variant,p.Asn574Ser,ENST00000594335,;	8267	143	113	SUCCESS
RYR1	6261	.	GRCh37	19	38997118	38997118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	47	171	1	ENST00000359596.3:c.8624C>A	p.Ala2875Glu	p.A2875E	ENST00000359596		2875	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS33011.1	8624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCAGAAC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026	.	.	ENSP00000352608	.	56/106	.	.	.	.	.	.	.	.	.	56/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ala2875Glu,ENST00000355481,;RYR1,missense_variant,p.Ala2875Glu,ENST00000360985,;RYR1,missense_variant,p.Ala2875Glu,ENST00000359596,;RYR1,missense_variant,p.Ala693Glu,ENST00000594335,;	8624	172	144	SUCCESS
NMRK2	27231	.	GRCh37	19	3942171	3942171	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	141	0	ENST00000168977.2:c.593C>T	p.Ser198Leu	p.S198L	ENST00000168977	NM_170678.2	198	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS12115.1	593	MUTECT|MUSE|VARSCANS	.	GGAATCAGCCC	NONE	.	.	hmmpanther:PTHR23404:SF7,hmmpanther:PTHR23404	.	.	ENSP00000168977	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000168977	Transcript	.	.	ENSG00000077009	17871	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.6)	.	NRK2_HUMAN	NMRK2	HGNC	.	.	UPI000006CD83	SNV	NMRK2,missense_variant,p.Ser198Leu,ENST00000168977,;NMRK2,missense_variant,p.Ser203Leu,ENST00000593949,;NMRK2,3_prime_UTR_variant,,ENST00000599576,;NMRK2,3_prime_UTR_variant,,ENST00000597889,;	883	141	78	SUCCESS
CYP2A6	1548	.	GRCh37	19	41355743	41355743	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	40	208	0	ENST00000301141.5:c.323A>G	p.Asp108Gly	p.D108G	ENST00000301141	NM_000762.5	108	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12568.1	323	RADIA|MUTECT|MUSE	.	CCCAGTCGAAG	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000301141	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000301141	Transcript	1	.	ENSG00000255974	2610	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.103)	.	.	.	CP2A6_HUMAN	CYP2A6	HGNC	.	.	UPI000013E6D2	SNV	CYP2A6,missense_variant,p.Asp108Gly,ENST00000301141,;CYP2A6,3_prime_UTR_variant,,ENST00000600495,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,intron_variant,,ENST00000596719,;CYP2A6,upstream_gene_variant,,ENST00000599960,;	344	208	168	SUCCESS
CIC	23152	.	GRCh37	19	42796509	42796509	+	synonymous_variant	Silent	SNP	G	G	A	rs774714572	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	97	1	ENST00000575354.2:c.3066G>A	p.Ala1022=	p.A1022=	ENST00000575354	NM_015125.3	1022	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12601.1	3066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTCCAG	NONE	byFrequency	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	.	.	ENSP00000458663	.	13/20	.	.	.	.	.	.	.	.	rs774714572	13/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,synonymous_variant,p.%3D,ENST00000575354,;CIC,synonymous_variant,p.%3D,ENST00000572681,;CIC,synonymous_variant,p.%3D,ENST00000160740,;PAFAH1B3,downstream_gene_variant,,ENST00000262890,;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;	3106	98	67	SUCCESS
ZNF845	91664	.	GRCh37	19	53856625	53856625	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	52	142	0	ENST00000458035.1:c.2697A>G	p.Gln899=	p.Q899=	ENST00000458035	NM_138374.1	899	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS46170.1	2697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAGCACA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50157	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,synonymous_variant,p.%3D,ENST00000595091,;ZNF845,synonymous_variant,p.%3D,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	2814	142	152	SUCCESS
STXBP3	6814	.	GRCh37	1	109351498	109351498	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	97	0	ENST00000370008.3:c.1778A>G	p.Ter593TrpextTer16	p.*593Wext*16	ENST00000370008	NM_007269.2	593	tAg/tGg	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS790.1	1778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATAGCATT	NONE	.	.	.	.	.	ENSP00000359025	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,stop_lost,p.Ter593TrpextTer16,ENST00000370008,;STXBP3,downstream_gene_variant,,ENST00000472099,;	1828	97	82	SUCCESS
KCNA10	3744	.	GRCh37	1	111059915	111059915	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778569816	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	103	0	ENST00000369771.2:c.1495A>G	p.Lys499Glu	p.K499E	ENST00000369771	NM_005549.2	499	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS826.1	1495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTTATTAA	NONE	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF44	.	.	ENSP00000358786	.	1/1	.	.	.	.	.	.	.	.	rs778569816	1/1	PASS	ENST00000369771	Transcript	.	.	ENSG00000143105	6219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious_low_confidence(0.05)	.	KCA10_HUMAN	KCNA10	HGNC	Q7KYZ7_HUMAN	.	UPI0000071B2B	SNV	KCNA10,missense_variant,p.Lys499Glu,ENST00000369771,;	1883	103	65	SUCCESS
TTLL10	254173	.	GRCh37	1	1119315	1119315	+	synonymous_variant	Silent	SNP	G	G	A	rs371622937	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	76	0	ENST00000379289.1:c.1104G>A	p.Pro368=	p.P368=	ENST00000379289	NM_001130045.1	368	ccG/ccA	0	A:0	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS44036.1	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGCTGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF72,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	A:0	A:0.0001	ENSP00000368592	A:0.001	12/16	.	.	.	.	.	.	.	.	rs371622937	12/16	PASS	ENST00000379290	Transcript	.	A:0.0002	ENSG00000162571	26693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TTL10_HUMAN	TTLL10	HGNC	.	.	UPI0000205ADB	SNV	TTLL10,synonymous_variant,p.%3D,ENST00000379289,;TTLL10,synonymous_variant,p.%3D,ENST00000379290,;TTLL10,synonymous_variant,p.%3D,ENST00000379288,;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,upstream_gene_variant,,ENST00000486379,;TTLL10,downstream_gene_variant,,ENST00000460998,;TTLL10,downstream_gene_variant,,ENST00000514695,;	1277	76	55	SUCCESS
GJA8	2703	.	GRCh37	1	147380358	147380358	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	53	65	0	ENST00000369235.1:c.276C>A	p.Tyr92Ter	p.Y92*	ENST00000369235		92	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS30834.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTACGTGGG	NONE	.	.	Prints_domain:PR00206,Gene3D:2zw3A00,Pfam_domain:PF00029,hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984,Transmembrane_helices:TMhelix	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	SNV	GJA8,stop_gained,p.Tyr92Ter,ENST00000240986,;GJA8,stop_gained,p.Tyr92Ter,ENST00000369235,;	329	65	75	SUCCESS
RIIAD1	284485	.	GRCh37	1	151701300	151701300	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	43	52	0	ENST00000479191.1:c.267G>A	p.Lys89=	p.K89=	ENST00000479191	NM_001144956.1	89	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS53368.1	267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAGAAAGC	NONE	.	.	hmmpanther:PTHR10699	.	.	ENSP00000419249	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000479191	Transcript	.	.	ENSG00000178796	26686	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIAD1_HUMAN	RIIAD1	HGNC	.	.	UPI00001D7CA9	SNV	RIIAD1,synonymous_variant,p.%3D,ENST00000326413,;RIIAD1,synonymous_variant,p.%3D,ENST00000479191,;AL589765.1,3_prime_UTR_variant,,ENST00000442233,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000451484,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000451222,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000426175,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000427205,;	267	52	68	SUCCESS
TCHH	7062	.	GRCh37	1	152080637	152080637	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	97	111	0	ENST00000368804.1:c.5056C>T	p.Arg1686Cys	p.R1686C	ENST00000368804	NM_007113.3	1686	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS41396.1	5056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCGGCGCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Arg1686Cys,ENST00000368804,;	5056	111	134	SUCCESS
CEP350	9857	.	GRCh37	1	179993651	179993651	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	12	73	0	ENST00000367607.3:c.3484T>A	p.Ser1162Thr	p.S1162T	ENST00000367607	NM_014810.4	1162	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1336.1	3484	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13958	.	.	ENSP00000356579	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Ser1162Thr,ENST00000367607,;	3902	73	96	SUCCESS
CACNA1E	777	.	GRCh37	1	181705445	181705445	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	20	150	0	ENST00000367573.2:c.3297G>A	p.Leu1099=	p.L1099=	ENST00000367573	NM_001205293.1	1099	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55664.1	3297	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGAAGGA	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000356545	.	22/48	.	.	.	.	.	.	.	.	.	22/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;	3297	151	177	SUCCESS
C1orf65	0	.	GRCh37	1	223568318	223568318	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	16	112	0	ENST00000366875.3:c.1501A>T	p.Met501Leu	p.M501L	ENST00000366875	NM_152610.2	501	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS1537.1	1501	MUTECT|MUSE|VARSCANS	.	GGAAGATGCGC	NONE	.	.	Pfam_domain:PF15558	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	.	tolerated(0.33)	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,missense_variant,p.Met501Leu,ENST00000366875,;	1604	112	171	SUCCESS
OBSCN	84033	.	GRCh37	1	228467638	228467638	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1382086607	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	9	133	0	ENST00000422127.1:c.7513G>A	p.Asp2505Asn	p.D2505N	ENST00000422127	NM_001098623.2	2505	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS59204.1	8800	MUTECT|MUSE	.	AGGATGACACG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	33/116	.	.	.	.	.	.	.	.	.	33/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.18)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Asp2505Asn,ENST00000284548,;OBSCN,missense_variant,p.Asp1352Asn,ENST00000359599,;OBSCN,missense_variant,p.Asp353Asn,ENST00000366706,;OBSCN,missense_variant,p.Asp2934Asn,ENST00000570156,;OBSCN,missense_variant,p.Asp2505Asn,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	8874	133	137	SUCCESS
ARID1A	8289	.	GRCh37	1	27089690	27089690	+	synonymous_variant	Silent	SNP	G	G	C	rs149901342	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	49	189	0	ENST00000324856.7:c.2646G>C	p.Gly882=	p.G882=	ENST00000324856	NM_006015.4	882	ggG/ggC	0	C:0	A:0	.	A:0	.	C	G	protein_coding	YES	CCDS285.1	2646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGATGTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	A:0.001	C:0.0001	ENSP00000320485	A:0	8/20	.	.	.	.	.	.	.	.	rs149901342	8/20	PASS	ENST00000324856	Transcript	.	A:0.0002	ENSG00000117713	11110	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,synonymous_variant,p.%3D,ENST00000457599,;ARID1A,synonymous_variant,p.%3D,ENST00000374152,;ARID1A,synonymous_variant,p.%3D,ENST00000324856,;RN7SL501P,upstream_gene_variant,,ENST00000578818,;ARID1A,upstream_gene_variant,,ENST00000430291,;	3017	189	137	SUCCESS
RCC1	1104	.	GRCh37	1	28863259	28863259	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1268238503	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	48	0	ENST00000373832.1:c.938G>A	p.Gly313Glu	p.G313E	ENST00000373832	NM_001269.4	313	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS41295.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGAAAAG	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF123,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985,Prints_domain:PR00633	.	.	ENSP00000362937	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000373831	Transcript	.	.	ENSG00000180198	1913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RCC1_HUMAN	RCC1	HGNC	.	.	UPI0000204066	SNV	RCC1,missense_variant,p.Gly344Glu,ENST00000373831,;RCC1,missense_variant,p.Gly313Glu,ENST00000373833,;RCC1,missense_variant,p.Gly313Glu,ENST00000398958,;RCC1,missense_variant,p.Gly313Glu,ENST00000373832,;RCC1,missense_variant,p.Gly330Glu,ENST00000411533,;RCC1,downstream_gene_variant,,ENST00000430407,;RCC1,downstream_gene_variant,,ENST00000419074,;RCC1,downstream_gene_variant,,ENST00000434290,;RCC1,downstream_gene_variant,,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,downstream_gene_variant,,ENST00000429051,;RCC1,splice_region_variant,,ENST00000478232,;	1092	48	49	SUCCESS
SYNC	81493	.	GRCh37	1	33147469	33147485	+	splice_region_variant,intron_variant	Splice_Region	DEL	GTTGAAAGAAAAAGTTT	GTTGAAAGAAAAAGTTT	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	GTTGAAAGAAAAAGTTT	GTTGAAAGAAAAAGTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	71	12	125	0	ENST00000409190.3:c.1439-24_1439-8del		p.X480_splice	ENST00000409190	NM_030786.2	480		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS367.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTAAAGTTGAAAGAAAAAGTTTATAAC	NONE	.	.	.	.	.	ENSP00000386439	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409190	Transcript	.	.	ENSG00000162520	28897	.	.	LOW	4/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNCI_HUMAN	SYNC	HGNC	C9JTN4_HUMAN,C9JSS1_HUMAN	.	UPI0001881B1E	deletion	SYNC,splice_region_variant,,ENST00000409190,;SYNC,splice_region_variant,,ENST00000373484,;RBBP4,3_prime_UTR_variant,,ENST00000373493,;RBBP4,downstream_gene_variant,,ENST00000414241,;RBBP4,downstream_gene_variant,,ENST00000482190,;RBBP4,downstream_gene_variant,,ENST00000373485,;RBBP4,downstream_gene_variant,,ENST00000458695,;RBBP4,downstream_gene_variant,,ENST00000544435,;RBBP4,downstream_gene_variant,,ENST00000463378,;RBBP4,downstream_gene_variant,,ENST00000492348,;RBBP4,downstream_gene_variant,,ENST00000460669,;	.	125	83	SUCCESS
EPHA10	284656	.	GRCh37	1	38227675	38227675	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	81	0	ENST00000373048.4:c.252G>A	p.Gln84=	p.Q84=	ENST00000373048	NM_001099439.1	84	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS41305.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCTGGTT	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000362139	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,synonymous_variant,p.%3D,ENST00000319637,;EPHA10,synonymous_variant,p.%3D,ENST00000427468,;EPHA10,synonymous_variant,p.%3D,ENST00000373048,;	252	81	66	SUCCESS
C8A	731	.	GRCh37	1	57320606	57320606	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	133	0	ENST00000361249.3:c.32T>A	p.Leu11Ter	p.L11*	ENST00000361249	NM_000562.2	11	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS606.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTTGATGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000354458	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	SNV	C8A,stop_gained,p.Leu11Ter,ENST00000361249,;	128	133	108	SUCCESS
DOCK7	85440	.	GRCh37	1	63050360	63050360	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	47	0	ENST00000340370.5:c.1801-1435T>A		p.*601*	ENST00000340370	NM_033407.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30734.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGACAGGA	NONE	.	.	.	.	.	ENSP00000340742	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	MODIFIER	15/48	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,3_prime_UTR_variant,,ENST00000404627,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000340370,;	.	47	30	SUCCESS
JAK1	3716	.	GRCh37	1	65310503	65310503	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	53	145	0	ENST00000342505.4:c.2185A>T	p.Ser729Cys	p.S729C	ENST00000342505	NM_002227.2	729	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS41346.1	2185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTGTCGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	16/25	.	.	.	.	.	.	.	.	COSM1726762	16/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.708)	.	deleterious(0.02)	1	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Ser729Cys,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000471473,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000481702,;	2434	145	123	SUCCESS
CLCA1	1179	.	GRCh37	1	86948018	86948018	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs149585400	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	156	0	ENST00000234701.3:c.688C>A	p.Arg230Ser	p.R230S	ENST00000234701		230	Cgc/Agc	0	T:0.0002	.	.	.	.	A	R/S	protein_coding	YES	CCDS709.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCCGCCAG	NONE	byCluster	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434	.	T:0	ENSP00000234701	.	6/15	.	.	.	.	.	.	.	.	rs149585400	6/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.97)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Arg230Ser,ENST00000234701,;CLCA1,missense_variant,p.Arg230Ser,ENST00000394711,;	1039	156	110	SUCCESS
ABCA4	24	.	GRCh37	1	94522310	94522310	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	27	195	0	ENST00000370225.3:c.2229C>T	p.Ala743=	p.A743=	ENST00000370225	NM_000350.2	743	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS747.1	2229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGGCAGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257,Pfam_domain:PF12698	.	.	ENSP00000359245	.	15/50	.	.	.	.	.	.	.	.	.	15/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,synonymous_variant,p.%3D,ENST00000370225,;ABCA4,intron_variant,,ENST00000535735,;ABCA4,downstream_gene_variant,,ENST00000472033,;	2316	195	126	SUCCESS
CSE1L	1434	.	GRCh37	20	47682737	47682737	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	32	126	0	ENST00000262982.2:c.237T>G	p.Asp79Glu	p.D79E	ENST00000262982	NM_001316.3	79	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS13412.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGAACC	NONE	.	.	PROSITE_profiles:PS50166,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF8,Pfam_domain:PF03810,Gene3D:1.25.10.10,SMART_domains:SM00913,Superfamily_domains:SSF48371	.	.	ENSP00000262982	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000262982	Transcript	.	.	ENSG00000124207	2431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.777)	.	tolerated(0.16)	.	XPO2_HUMAN	CSE1L	HGNC	.	.	UPI000013D377	SNV	CSE1L,missense_variant,p.Asp79Glu,ENST00000396192,;CSE1L,missense_variant,p.Asp79Glu,ENST00000262982,;CSE1L,intron_variant,,ENST00000542325,;	360	126	104	SUCCESS
ZFP64	55734	.	GRCh37	20	50803417	50803417	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	136	0	ENST00000216923.4:c.240T>G	p.Thr80=	p.T80=	ENST00000216923	NM_199426.1	80	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS13440.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGAGTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27	.	.	ENSP00000216923	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000216923	Transcript	.	.	ENSG00000020256	15940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZF64A_HUMAN	ZFP64	HGNC	B3KQX0_HUMAN	.	UPI000006D699	SNV	ZFP64,synonymous_variant,p.%3D,ENST00000371515,;ZFP64,synonymous_variant,p.%3D,ENST00000346617,;ZFP64,synonymous_variant,p.%3D,ENST00000216923,;ZFP64,synonymous_variant,p.%3D,ENST00000371518,;ZFP64,synonymous_variant,p.%3D,ENST00000361387,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;	590	136	107	SUCCESS
PCK1	5105	.	GRCh37	20	56138179	56138179	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs938359858	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	88	0	ENST00000319441.4:c.706G>A	p.Gly236Ser	p.G236S	ENST00000319441	NM_002591.3	236	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS13460.1	706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACGGCGGG	NONE	.	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.40.449.10,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF68923	.	.	ENSP00000319814	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,missense_variant,p.Gly104Ser,ENST00000535860,;PCK1,missense_variant,p.Gly236Ser,ENST00000319441,;PCK1,intron_variant,,ENST00000543666,;PCK1,non_coding_transcript_exon_variant,,ENST00000498194,;PCK1,non_coding_transcript_exon_variant,,ENST00000470051,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,upstream_gene_variant,,ENST00000485958,;	870	88	81	SUCCESS
ZNF831	128611	.	GRCh37	20	57766466	57766466	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143620250	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	40	106	0	ENST00000371030.2:c.392C>A	p.Thr131Lys	p.T131K	ENST00000371030	NM_178457.2	131	aCg/aAg	0	T:0.0012	T:0	.	T:0	.	A	T/K	protein_coding	YES	CCDS42894.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCACGCTGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	T:0	T:0	ENSP00000360069	T:0	1/5	.	.	.	.	.	.	.	.	rs143620250	1/5	PASS	ENST00000371030	Transcript	.	T:0.0000	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	T:0	deleterious(0.02)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Thr131Lys,ENST00000371030,;	392	106	124	SUCCESS
SYNJ1	8867	.	GRCh37	21	34053836	34053864	+	frameshift_variant	Frame_Shift_Del	DEL	TGCATATATCTTACTGATTGAATCACCAT	TGCATATATCTTACTGATTGAATCACCAT	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	TGCATATATCTTACTGATTGAATCACCAT	TGCATATATCTTACTGATTGAATCACCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	88	42	131	0	ENST00000433931.2:c.1412_1440delinsT	p.Asn471MetfsTer12	p.N471Mfs*12	ENST00000433931	NM_003895.3	471	aATGGTGATTCAATCAGTAAGATATATGCA/aT	0	.	.	.	.	.	A	NGDSISKIYA/X	protein_coding	YES	CCDS33539.2	1412-1440	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTTCCTGCATATATCTTACTGATTGAATCACCATTCACG	NONE	.	.	hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200,PROSITE_profiles:PS50275	.	.	ENSP00000409667	.	11/32	.	.	.	.	.	.	.	.	.	11/32	PASS	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	substitution	SYNJ1,frameshift_variant,p.Asn471MetfsTer12,ENST00000382499,;SYNJ1,frameshift_variant,p.Asn432MetfsTer15,ENST00000429236,;SYNJ1,frameshift_variant,p.Asn432MetfsTer15,ENST00000382491,;SYNJ1,frameshift_variant,p.Asn432MetfsTer12,ENST00000322229,;SYNJ1,frameshift_variant,p.Asn471MetfsTer12,ENST00000433931,;SYNJ1,frameshift_variant,p.Asn432MetfsTer12,ENST00000357345,;	1420-1448	131	130	SUCCESS
IFNGR2	3460	.	GRCh37	21	34805131	34805131	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	92	0	ENST00000290219.6:c.832A>C	p.Lys278Gln	p.K278Q	ENST00000290219	NM_005534.3	278	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS33544.1	832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTAAATAC	NONE	.	.	hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF9	.	.	ENSP00000290219	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000290219	Transcript	.	.	ENSG00000159128	5440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INGR2_HUMAN	IFNGR2	HGNC	B5MCZ0_HUMAN,A8K881_HUMAN,A1Z2N6_HUMAN	.	UPI00001514B0	SNV	IFNGR2,missense_variant,p.Lys199Gln,ENST00000405436,;IFNGR2,missense_variant,p.Lys297Gln,ENST00000381995,;IFNGR2,missense_variant,p.Lys44Gln,ENST00000421802,;IFNGR2,missense_variant,p.Lys278Gln,ENST00000290219,;TMEM50B,intron_variant,,ENST00000484377,;TMEM50B,intron_variant,,ENST00000470682,;TMEM50B,downstream_gene_variant,,ENST00000468874,;IFNGR2,3_prime_UTR_variant,,ENST00000545369,;TMEM50B,intron_variant,,ENST00000420455,;IFNGR2,downstream_gene_variant,,ENST00000439213,;	1480	92	94	SUCCESS
DOPEY2	0	.	GRCh37	21	37617605	37617605	+	synonymous_variant	Silent	SNP	C	C	T	rs981738604	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	78	0	ENST00000399151.3:c.3327C>T	p.His1109=	p.H1109=	ENST00000399151	NM_005128.2	1109	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS13643.1	3327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACACCGA	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;DOPEY2,upstream_gene_variant,,ENST00000463668,;	3412	78	71	SUCCESS
MICAL3	57553	.	GRCh37	22	18324653	18324653	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	51	0	ENST00000441493.2:c.2736G>A	p.Glu912=	p.E912=	ENST00000441493	NM_015241.2	912	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS46659.1	2736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTCTCCTC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,synonymous_variant,p.%3D,ENST00000207726,;MICAL3,synonymous_variant,p.%3D,ENST00000444520,;MICAL3,synonymous_variant,p.%3D,ENST00000383094,;MICAL3,synonymous_variant,p.%3D,ENST00000414725,;MICAL3,synonymous_variant,p.%3D,ENST00000441493,;MICAL3,synonymous_variant,p.%3D,ENST00000400561,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;MICAL3,non_coding_transcript_exon_variant,,ENST00000578905,;	3089	51	24	SUCCESS
TTC28	23331	.	GRCh37	22	28693650	28693654	+	frameshift_variant	Frame_Shift_Del	DEL	CAGGG	CAGGG	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	CAGGG	CAGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	73	0	ENST00000397906.2:c.716_720del	p.Ala239GlufsTer29	p.A239Efs*29	ENST00000397906	NM_001145418.1	239	gCCCTG/g	0	.	.	.	.	.	-	AL/X	protein_coding	YES	CCDS46678.1	716-720	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGCTCAGGGCAGAG	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106,PROSITE_profiles:PS50293	.	.	ENSP00000381003	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	deletion	TTC28,frameshift_variant,p.Ala239GlufsTer29,ENST00000397906,;TTC28,non_coding_transcript_exon_variant,,ENST00000490475,;	858-862	73	23	SUCCESS
TTC28	23331	.	GRCh37	22	28693694	28693697	+	frameshift_variant	Frame_Shift_Del	DEL	CAAT	CAAT	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	CAAT	CAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	80	0	ENST00000397906.2:c.673_676del	p.Ile225AlafsTer7	p.I225Afs*7	ENST00000397906	NM_001145418.1	225	ATTGgc/gc	0	.	.	.	.	.	-	IG/X	protein_coding	YES	CCDS46678.1	673-676	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGTGCCAATCTTCA	NONE	.	.	Gene3D:1.25.40.10,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106,PROSITE_profiles:PS50293	.	.	ENSP00000381003	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	deletion	TTC28,frameshift_variant,p.Ile225AlafsTer7,ENST00000397906,;TTC28,non_coding_transcript_exon_variant,,ENST00000490475,;	815-818	80	41	SUCCESS
ATF4	468	.	GRCh37	22	39918368	39918368	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372679887	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	224	94	348	0	ENST00000337304.2:c.817G>A	p.Val273Ile	p.V273I	ENST00000337304	NM_001675.2	273	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS13996.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGTAAAG	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13044:SF2,hmmpanther:PTHR13044	.	.	ENSP00000336790	.	2/2	.	.	.	.	.	.	.	.	rs372679887	2/2	PASS	ENST00000337304	Transcript	.	.	ENSG00000128272	786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.25)	.	ATF4_HUMAN	ATF4	HGNC	Q96AQ3_HUMAN,B4DJD4_HUMAN	.	UPI000000DABF	SNV	ATF4,missense_variant,p.Val273Ile,ENST00000396680,;ATF4,missense_variant,p.Val273Ile,ENST00000337304,;ATF4,missense_variant,p.Val273Ile,ENST00000404241,;MIEF1,downstream_gene_variant,,ENST00000325301,;	1699	348	318	SUCCESS
CENPM	79019	.	GRCh37	22	42341233	42341233	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	35	150	0	ENST00000215980.5:c.306A>G	p.Thr102=	p.T102=	ENST00000215980	NM_024053.3	102	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS14025.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGTGGC	NONE	.	.	Pfam_domain:PF11111	.	.	ENSP00000215980	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000215980	Transcript	.	.	ENSG00000100162	18352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPM_HUMAN	CENPM	HGNC	B1AHQ6_HUMAN	.	UPI0000049C7F	SNV	CENPM,missense_variant,p.Arg97Gly,ENST00000402420,;CENPM,synonymous_variant,p.%3D,ENST00000215980,;CENPM,synonymous_variant,p.%3D,ENST00000402338,;CENPM,synonymous_variant,p.%3D,ENST00000404067,;CENPM,synonymous_variant,p.%3D,ENST00000407253,;CENPM,non_coding_transcript_exon_variant,,ENST00000396437,;CENPM,downstream_gene_variant,,ENST00000460824,;	394	150	154	SUCCESS
SEPT10	0	.	GRCh37	2	110332246	110332246	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780288687	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	99	0	ENST00000397712.2:c.512G>T	p.Arg171Leu	p.R171L	ENST00000397712	NM_144710.3	171	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS46383.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCGAGAA	CODON|p.R171H|c.512G>A|3,CODON|p.R148H|c.443G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS51719,hmmpanther:PTHR18884:SF50,hmmpanther:PTHR18884,Pfam_domain:PF00735,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540	.	.	ENSP00000380824	.	5/11	.	.	.	.	.	.	.	.	rs780288687,COSM1005333,COSM1590462	5/11	PASS	ENST00000397712	Transcript	.	.	ENSG00000186522	14349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.851)	.	deleterious(0)	0,1,1	SEP10_HUMAN	SEPT10	HGNC	Q9H9P7_HUMAN,F5H1F2_HUMAN,F5GYV2_HUMAN,C9JEW2_HUMAN	.	UPI00000372DD	SNV	SEPT10,missense_variant,p.Arg171Leu,ENST00000415095,;SEPT10,missense_variant,p.Arg156Leu,ENST00000437928,;SEPT10,missense_variant,p.Arg171Leu,ENST00000397712,;SEPT10,missense_variant,p.Arg38Leu,ENST00000334001,;SEPT10,missense_variant,p.Arg148Leu,ENST00000397714,;SEPT10,missense_variant,p.Arg171Leu,ENST00000356688,;SEPT10,5_prime_UTR_variant,,ENST00000461295,;SEPT10,5_prime_UTR_variant,,ENST00000493445,;SEPT10,intron_variant,,ENST00000545389,;SEPT10,intron_variant,,ENST00000423520,;SEPT10,3_prime_UTR_variant,,ENST00000486678,;SEPT10,intron_variant,,ENST00000425498,;	891	100	88	SUCCESS
TTN	7273	.	GRCh37	2	179594139	179594139	+	synonymous_variant	Silent	SNP	G	G	A	rs775965000	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	17	125	0	ENST00000591111.1:c.17793C>T	p.Thr5931=	p.T5931=	ENST00000591111		5931	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS59435.1	18744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGGTCAA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	64/363	.	.	.	.	.	.	.	.	rs775965000	64/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	18969	126	98	SUCCESS
FZD5	7855	.	GRCh37	2	208633107	208633107	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	25	0	ENST00000295417.3:c.357G>A	p.Leu119=	p.L119=	ENST00000295417	NM_003468.3	119	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33366.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCATCAGCGG	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF29,Pfam_domain:PF01392,Gene3D:1ijyA00,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000354607	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295417	Transcript	.	.	ENSG00000163251	4043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD5_HUMAN	FZD5	HGNC	.	.	UPI000013E255	SNV	FZD5,synonymous_variant,p.%3D,ENST00000295417,;	911	25	22	SUCCESS
AGFG1	3267	.	GRCh37	2	228401645	228401679	+	protein_altering_variant	In_Frame_Del	DEL	TGCTGCTGGTCCTTCTGTGGCATCTTCTACAAACC	TGCTGCTGGTCCTTCTGTGGCATCTTCTACAAACC	AGCAG	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	TGCTGCTGGTCCTTCTGTGGCATCTTCTACAAACC	TGCTGCTGGTCCTTCTGTGGCATCTTCTACAAACC	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	189	0	ENST00000310078.8:c.1314_1348delinsAGCAG	p.Gly441_Pro450del	p.G441_P450del	ENST00000310078	NM_004504.4	438	gcTGCTGCTGGTCCTTCTGTGGCATCTTCTACAAACCca/gcAGCAGca	0	.	.	.	.	.	AGCAG	AAAGPSVASSTNP/AAA	protein_coding	YES	CCDS46533.1	1386-1420	INDELOCATOR*|PINDEL	.	TGTTGCTGCTGCTGGTCCTTCTGTGGCATCTTCTACAAACCCATTT	NONE	.	.	hmmpanther:PTHR23180:SF232,hmmpanther:PTHR23180	.	.	ENSP00000387282	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000409979	Transcript	.	.	ENSG00000173744	5175	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AGFG1	HGNC	.	.	UPI0001814801	substitution	AGFG1,coding_sequence_variant,,ENST00000458212,;AGFG1,protein_altering_variant,p.Gly441_Pro450del,ENST00000409171,;AGFG1,protein_altering_variant,p.Gly420_Pro429del,ENST00000409315,;AGFG1,protein_altering_variant,p.Gly465_Pro474del,ENST00000409979,;AGFG1,protein_altering_variant,p.Gly401_Pro410del,ENST00000373671,;AGFG1,protein_altering_variant,p.Gly441_Pro450del,ENST00000310078,;AGFG1,downstream_gene_variant,,ENST00000456594,;	1656-1690	189	91	SUCCESS
GPR113	0	.	GRCh37	2	26536264	26536264	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1196602063	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	128	0	ENST00000311519.1:c.1454C>A	p.Ala485Asp	p.A485D	ENST00000311519	NM_001145168.1	485	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS46239.1	1454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGGCCAGG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF214	.	.	ENSP00000307831	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000311519	Transcript	.	.	ENSG00000173567	18989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.13)	.	GP113_HUMAN	GPR113	HGNC	.	.	UPI000007411E	SNV	GPR113,missense_variant,p.Ala88Asp,ENST00000541401,;GPR113,missense_variant,p.Ala286Asp,ENST00000333478,;GPR113,missense_variant,p.Ala485Asp,ENST00000311519,;GPR113,missense_variant,p.Ala416Asp,ENST00000421160,;EPT1,intron_variant,,ENST00000442141,;GPR113,downstream_gene_variant,,ENST00000433584,;GPR113,non_coding_transcript_exon_variant,,ENST00000459892,;GPR113,downstream_gene_variant,,ENST00000487878,;GPR113,missense_variant,p.Ala286Asp,ENST00000447444,;GPR113,3_prime_UTR_variant,,ENST00000435303,;	1454	128	92	SUCCESS
NRXN1	9378	.	GRCh37	2	51255333	51255333	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	37	0	ENST00000406316.2:c.79C>T	p.Leu27=	p.L27=	ENST00000406316	NM_004801.4	27	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46282.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGCTCCG	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000405581,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,upstream_gene_variant,,ENST00000496792,;	1419	37	48	SUCCESS
EHBP1	23301	.	GRCh37	2	63206420	63206420	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750382472	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	117	0	ENST00000263991.5:c.2663A>G	p.Tyr888Cys	p.Y888C	ENST00000263991	NM_015252.3	888	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1872.1	2663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTATGGTG	NONE	.	.	hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124	.	.	ENSP00000263991	.	16/25	.	.	.	.	.	.	.	.	rs750382472	16/25	PASS	ENST00000263991	Transcript	.	.	ENSG00000115504	29144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious_low_confidence(0.05)	.	EHBP1_HUMAN	EHBP1	HGNC	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN	.	UPI000013D49A	SNV	EHBP1,missense_variant,p.Tyr888Cys,ENST00000263991,;EHBP1,missense_variant,p.Tyr853Cys,ENST00000405289,;EHBP1,missense_variant,p.Tyr853Cys,ENST00000405015,;EHBP1,missense_variant,p.Tyr853Cys,ENST00000431489,;EHBP1,missense_variant,p.Tyr853Cys,ENST00000354487,;EHBP1,missense_variant,p.Tyr113Cys,ENST00000444311,;EHBP1,missense_variant,p.Tyr110Cys,ENST00000454124,;EHBP1,missense_variant,p.Tyr48Cys,ENST00000422032,;EHBP1,non_coding_transcript_exon_variant,,ENST00000496857,;EHBP1,upstream_gene_variant,,ENST00000491965,;	3145	117	106	SUCCESS
SNRNP27	11017	.	GRCh37	2	70123665	70123665	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	72	0	ENST00000244227.3:c.253G>C	p.Glu85Gln	p.E85Q	ENST00000244227	NM_006857.2	85	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS33219.1	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGAACGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31077,Pfam_domain:PF08648	.	.	ENSP00000244227	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000244227	Transcript	.	.	ENSG00000124380	30240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.17)	.	SNR27_HUMAN	SNRNP27	HGNC	A8K513_HUMAN	.	UPI000006D312	SNV	SNRNP27,missense_variant,p.Glu85Gln,ENST00000409116,;SNRNP27,missense_variant,p.Glu85Gln,ENST00000244227,;MXD1,upstream_gene_variant,,ENST00000435990,;SNRNP27,non_coding_transcript_exon_variant,,ENST00000488986,;SNRNP27,missense_variant,p.Glu85Gln,ENST00000450162,;	678	72	59	SUCCESS
ZNF638	27332	.	GRCh37	2	71591128	71591128	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1207073357	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	45	128	0	ENST00000264447.4:c.1463C>G	p.Ser488Cys	p.S488C	ENST00000264447	NM_001014972.2	488	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS1917.1	1463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTTCTCATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Ser488Cys,ENST00000409544,;ZNF638,missense_variant,p.Ser488Cys,ENST00000264447,;ZNF638,missense_variant,p.Ser488Cys,ENST00000377802,;ZNF638,missense_variant,p.Ser488Cys,ENST00000355812,;ZNF638,upstream_gene_variant,,ENST00000601581,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466975,;ZNF638,non_coding_transcript_exon_variant,,ENST00000464375,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466330,;ZNF638,non_coding_transcript_exon_variant,,ENST00000494621,;ZNF638,non_coding_transcript_exon_variant,,ENST00000475743,;	2093	128	119	SUCCESS
KDM3A	55818	.	GRCh37	2	86718398	86718413	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGTAAAAATAGCACCA	GGTAAAAATAGCACCA	CCG	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	GGTAAAAATAGCACCA	GGTAAAAATAGCACCA	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	89	0	ENST00000312912.5:c.3885_3885+15delinsCCG		p.X1295_splice	ENST00000312912	NM_018433.5	1295		0	.	.	.	.	.	CCG	.	protein_coding	YES	CCDS1990.1	3885-?	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTACAGGTAAAAATAGCACCAATTCC	NONE	.	.	.	.	.	ENSP00000386660	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000409556	Transcript	.	.	ENSG00000115548	20815	.	.	HIGH	26/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KDM3A_HUMAN	KDM3A	HGNC	C9JC73_HUMAN,C9J7Q7_HUMAN	.	UPI0000161FAE	substitution	KDM3A,splice_donor_variant,,ENST00000409064,;KDM3A,splice_donor_variant,,ENST00000542128,;KDM3A,splice_donor_variant,,ENST00000409556,;KDM3A,splice_donor_variant,,ENST00000312912,;KDM3A,downstream_gene_variant,,ENST00000462197,;KDM3A,splice_donor_variant,,ENST00000470160,;KDM3A,splice_donor_variant,,ENST00000441719,;KDM3A,non_coding_transcript_exon_variant,,ENST00000491383,;KDM3A,downstream_gene_variant,,ENST00000483866,;	4250-?	89	87	SUCCESS
C2ORF15	0	.	GRCh37	2	99767195	99767195	+	synonymous_variant	Silent	SNP	A	A	G	rs1162660988	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	279	111	451	0	ENST00000302513.2:c.276A>G	p.Thr92=	p.T92=	ENST00000302513	NM_144706.2	92	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2038.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACAAGGAT	NONE	.	.	.	.	.	ENSP00000302202	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302513	Transcript	.	.	ENSG00000273045	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB015_HUMAN	C2ORF15	Uniprot_gn	.	.	UPI000006E239	SNV	C2ORF15,synonymous_variant,p.%3D,ENST00000302513,;C2ORF15,synonymous_variant,p.%3D,ENST00000409684,;TSGA10,intron_variant,,ENST00000393483,;LIPT1,upstream_gene_variant,,ENST00000434566,;LIPT1,upstream_gene_variant,,ENST00000393473,;LIPT1,upstream_gene_variant,,ENST00000415142,;LIPT1,upstream_gene_variant,,ENST00000393471,;LIPT1,upstream_gene_variant,,ENST00000436234,;LIPT1,upstream_gene_variant,,ENST00000449211,;LIPT1,upstream_gene_variant,,ENST00000393474,;MRPL30,upstream_gene_variant,,ENST00000410042,;LIPT1,upstream_gene_variant,,ENST00000340066,;LIPT1,upstream_gene_variant,,ENST00000393477,;TSGA10,intron_variant,,ENST00000498097,;TSGA10,intron_variant,,ENST00000471174,;TSGA10,intron_variant,,ENST00000465216,;TSGA10,intron_variant,,ENST00000476849,;TSGA10,intron_variant,,ENST00000483914,;TSGA10,intron_variant,,ENST00000489348,;C2orf15,intron_variant,,ENST00000424491,;LIPT1,upstream_gene_variant,,ENST00000480170,;C2ORF15,downstream_gene_variant,,ENST00000496794,;	912	451	391	SUCCESS
EIF5B	9669	.	GRCh37	2	99976706	99976706	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	134	464	0	ENST00000289371.6:c.43G>A	p.Asp15Asn	p.D15N	ENST00000289371	NM_015904.3	15	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS42721.1	43	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGATGAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000289371	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000289371	Transcript	.	.	ENSG00000158417	30793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	IF2P_HUMAN	EIF5B	HGNC	D3DVI5_HUMAN	.	UPI0000207EC7	SNV	EIF5B,missense_variant,p.Asp15Asn,ENST00000289371,;	245	464	425	SUCCESS
WDR5B	54554	.	GRCh37	3	122133743	122133743	+	synonymous_variant	Silent	SNP	A	A	G	rs559697273	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	93	0	ENST00000330689.4:c.633T>C	p.Pro211=	p.P211=	ENST00000330689	NM_019069.3	211	ccT/ccC	0	.	C:0	.	C:0	.	G	P	protein_coding	YES	CCDS3012.1	633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGAGGGTT	NONE	by1000G	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF308,hmmpanther:PTHR22847,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	C:0	.	ENSP00000330381	C:0	1/1	.	.	.	.	.	.	.	.	rs559697273	1/1	PASS	ENST00000330689	Transcript	.	C:0.0002	ENSG00000196981	17826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	WDR5B_HUMAN	WDR5B	HGNC	.	.	UPI000000DA52	SNV	WDR5B,synonymous_variant,p.%3D,ENST00000330689,;FAM162A,downstream_gene_variant,,ENST00000477892,;FAM162A,downstream_gene_variant,,ENST00000232125,;RP11-299J3.8,upstream_gene_variant,,ENST00000608015,;RP11-299J3.8,upstream_gene_variant,,ENST00000608346,;RP11-299J3.8,upstream_gene_variant,,ENST00000609469,;RP11-299J3.8,upstream_gene_variant,,ENST00000608756,;RP11-299J3.8,upstream_gene_variant,,ENST00000608465,;RP11-299J3.6,downstream_gene_variant,,ENST00000472671,;	1140	93	92	SUCCESS
SNX4	8723	.	GRCh37	3	125195601	125195601	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	288	127	453	0	ENST00000251775.4:c.727-1G>T		p.X243_splice	ENST00000251775	NM_003794.3	243		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCTGAAA	NONE	.	.	.	.	.	ENSP00000251775	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251775	Transcript	.	.	ENSG00000114520	11175	.	.	HIGH	7/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX4_HUMAN	SNX4	HGNC	Q9H398_HUMAN,B4DQV4_HUMAN	.	UPI000003586D	SNV	SNX4,splice_acceptor_variant,,ENST00000536067,;SNX4,splice_acceptor_variant,,ENST00000251775,;SNX4,splice_acceptor_variant,,ENST00000473417,;SNX4,splice_acceptor_variant,,ENST00000465505,;SNX4,splice_acceptor_variant,,ENST00000471751,;	.	453	415	SUCCESS
PLXNA1	5361	.	GRCh37	3	126736619	126736619	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756796294	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	86	0	ENST00000393409.2:c.3544G>T	p.Gly1182Cys	p.G1182C	ENST00000393409	NM_032242.3	1182	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS33847.2	3544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGGCAAC	NONE	byFrequency	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000377061	.	18/31	.	.	.	.	.	.	.	.	rs756796294	18/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,missense_variant,p.Gly1182Cys,ENST00000393409,;PLXNA1,missense_variant,p.Gly1159Cys,ENST00000251772,;	3544	86	86	SUCCESS
CEP63	80254	.	GRCh37	3	134278032	134278032	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1553789251	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	36	128	0	ENST00000337090.3:c.1714G>A	p.Glu572Lys	p.E572K	ENST00000337090		572	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3086.1	1714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTGAGCAC	NONE	.	.	hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF6	.	.	ENSP00000336524	.	14/15	.	.	.	.	.	.	.	.	COSM1308622	14/15	PASS	ENST00000337090	Transcript	.	.	ENSG00000182923	25815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.053)	.	tolerated(0.3)	1	CEP63_HUMAN	CEP63	HGNC	D6RAY6_HUMAN,D6R9Q4_HUMAN	.	UPI000006D2FD	SNV	CEP63,missense_variant,p.Glu572Lys,ENST00000337090,;CEP63,missense_variant,p.Glu572Lys,ENST00000513612,;CEP63,missense_variant,p.Glu572Lys,ENST00000606977,;CEP63,intron_variant,,ENST00000383229,;CEP63,intron_variant,,ENST00000514678,;CEP63,intron_variant,,ENST00000354446,;CEP63,intron_variant,,ENST00000332047,;CEP63,downstream_gene_variant,,ENST00000504929,;CEP63,intron_variant,,ENST00000510625,;	1887	128	148	SUCCESS
ESYT3	83850	.	GRCh37	3	138153695	138153695	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	40	0	ENST00000389567.4:c.55C>G	p.Arg19Gly	p.R19G	ENST00000389567	NM_031913.3	19	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS3101.2	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCGCACG	NONE	.	.	hmmpanther:PTHR10774:SF27,hmmpanther:PTHR10774	.	.	ENSP00000374218	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000389567	Transcript	.	.	ENSG00000158220	24295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.43)	.	ESYT3_HUMAN	ESYT3	HGNC	.	.	UPI0000251E45	SNV	ESYT3,missense_variant,p.Arg19Gly,ENST00000289135,;ESYT3,missense_variant,p.Arg19Gly,ENST00000389567,;ESYT3,missense_variant,p.Arg19Gly,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;	241	40	40	SUCCESS
TRIM42	287015	.	GRCh37	3	140409822	140409822	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	106	0	ENST00000286349.3:c.1873T>C	p.Cys625Arg	p.C625R	ENST00000286349	NM_152616.4	625	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS3113.1	1873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACATGTCCA	NONE	.	.	PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000286349	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,missense_variant,p.Cys625Arg,ENST00000286349,;	2064	106	103	SUCCESS
IGSF10	285313	.	GRCh37	3	151160830	151160830	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1227027161	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	83	0	ENST00000282466.3:c.5905C>T	p.Pro1969Ser	p.P1969S	ENST00000282466	NM_178822.4	1969	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS3160.1	5905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGCTCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000282466	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Pro1969Ser,ENST00000282466,;IGSF10,missense_variant,p.Pro37Ser,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	5905	83	69	SUCCESS
GFM1	85476	.	GRCh37	3	158407956	158407956	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	77	0	ENST00000486715.1:c.1914G>C	p.Leu638Phe	p.L638F	ENST00000486715	NM_024996.5	638	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS33885.1	1914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGGCAAA	NONE	.	.	Superfamily_domains:SSF54211,SMART_domains:SM00889,TIGRFAM_domain:TIGR00484,Pfam_domain:PF03764,Gene3D:3.30.230.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF66,HAMAP:MF_00054_B	.	.	ENSP00000419038	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000486715	Transcript	.	.	ENSG00000168827	13780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	EFGM_HUMAN	GFM1	HGNC	E5KND5_HUMAN,C9JA25_HUMAN	.	UPI000006232D	SNV	GFM1,missense_variant,p.Leu657Phe,ENST00000264263,;GFM1,missense_variant,p.Leu638Phe,ENST00000486715,;GFM1,intron_variant,,ENST00000472383,;RP11-379F4.7,downstream_gene_variant,,ENST00000607624,;GFM1,3_prime_UTR_variant,,ENST00000478254,;GFM1,non_coding_transcript_exon_variant,,ENST00000477721,;GFM1,downstream_gene_variant,,ENST00000481468,;	2271	77	54	SUCCESS
ECT2	1894	.	GRCh37	3	172479465	172479468	+	frameshift_variant	Frame_Shift_Del	DEL	GAAT	GAAT	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	GAAT	GAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	83	75	125	0	ENST00000392692.3:c.753_756del	p.Glu252ArgfsTer24	p.E252Rfs*24	ENST00000392692	NM_001258315.1	250	cgGAAT/cg	0	.	.	.	.	.	-	RN/X	protein_coding	YES	CCDS58860.1	750-753	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGCGGAATGAACA	NONE	.	.	PROSITE_profiles:PS50172,hmmpanther:PTHR16777,Gene3D:3.40.50.10190,SMART_domains:SM00292,Superfamily_domains:SSF52113,Superfamily_domains:SSF52113	.	.	ENSP00000376457	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000392692	Transcript	.	.	ENSG00000114346	3155	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ECT2_HUMAN	ECT2	HGNC	Q96SJ9_HUMAN,Q96J05_HUMAN,C9JTI2_HUMAN,C9JDV9_HUMAN	.	UPI00003DFD0A	deletion	ECT2,frameshift_variant,p.Glu221ArgfsTer24,ENST00000232458,;ECT2,frameshift_variant,p.Glu221ArgfsTer24,ENST00000427830,;ECT2,frameshift_variant,p.Glu221ArgfsTer24,ENST00000441497,;ECT2,frameshift_variant,p.Glu220ArgfsTer24,ENST00000417960,;ECT2,frameshift_variant,p.Glu252ArgfsTer24,ENST00000540509,;ECT2,frameshift_variant,p.Glu252ArgfsTer24,ENST00000392692,;ECT2,downstream_gene_variant,,ENST00000415665,;ECT2,downstream_gene_variant,,ENST00000438041,;ECT2,downstream_gene_variant,,ENST00000426894,;ECT2,downstream_gene_variant,,ENST00000366090,;ECT2,upstream_gene_variant,,ENST00000444250,;ECT2,downstream_gene_variant,,ENST00000428567,;	926-929	125	158	SUCCESS
ANKRD18DP	348840	.	GRCh37	3	197803763	197803763	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs374695729	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	19	0	ENST00000435620.2:n.592C>A		p.*198*	ENST00000435620				0	A:0.0007	A:0	.	A:0.0014	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCGTAGAC	NONE	byCluster|by1000G	.	.	A:0	A:0	.	A:0	3/10	.	.	.	.	.	.	.	.	rs374695729	3/10	PASS	ENST00000435620	Transcript	.	A:0.0002	ENSG00000226435	28016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	ANKRD18DP	HGNC	.	.	.	SNV	ANKRD18DP,non_coding_transcript_exon_variant,,ENST00000335478,;ANKRD18DP,non_coding_transcript_exon_variant,,ENST00000435620,;ANKRD18DP,non_coding_transcript_exon_variant,,ENST00000455355,;	592	19	31	SUCCESS
OXSM	54995	.	GRCh37	3	25835810	25835810	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	57	164	0	ENST00000280701.3:c.1205G>C	p.Cys402Ser	p.C402S	ENST00000280701	NM_017897.2	402	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS2643.1	1205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGTTATT	NONE	.	.	hmmpanther:PTHR11712,TIGRFAM_domain:TIGR03150,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901	.	.	ENSP00000280701	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000280701	Transcript	.	.	ENSG00000151093	26063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	OXSM_HUMAN	OXSM	HGNC	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN	.	UPI000004713F	SNV	OXSM,missense_variant,p.Cys402Ser,ENST00000280701,;OXSM,missense_variant,p.Cys319Ser,ENST00000420173,;NGLY1,upstream_gene_variant,,ENST00000417874,;OXSM,downstream_gene_variant,,ENST00000452098,;OXSM,downstream_gene_variant,,ENST00000428266,;OXSM,downstream_gene_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,3_prime_UTR_variant,,ENST00000448177,;	1304	164	157	SUCCESS
PLCD1	5333	.	GRCh37	3	38049272	38049272	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	85	0	ENST00000334661.4:c.2263C>T	p.Gln755Ter	p.Q755*	ENST00000334661	NM_006225.3	755	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS46793.1	2326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGGAGGG	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF80	.	.	ENSP00000430344	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000463876	Transcript	.	.	ENSG00000187091	9060	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCD1_HUMAN	PLCD1	HGNC	.	.	UPI00003E2810	SNV	PLCD1,stop_gained,p.Gln776Ter,ENST00000463876,;PLCD1,stop_gained,p.Gln755Ter,ENST00000334661,;VILL,downstream_gene_variant,,ENST00000383759,;VILL,downstream_gene_variant,,ENST00000465644,;VILL,downstream_gene_variant,,ENST00000283713,;PLCD1,downstream_gene_variant,,ENST00000479619,;PLCD1,non_coding_transcript_exon_variant,,ENST00000461445,;PLCD1,non_coding_transcript_exon_variant,,ENST00000417185,;PLCD1,downstream_gene_variant,,ENST00000484829,;VILL,downstream_gene_variant,,ENST00000463080,;PLCD1,downstream_gene_variant,,ENST00000495367,;PLCD1,downstream_gene_variant,,ENST00000495395,;VILL,downstream_gene_variant,,ENST00000486616,;VILL,downstream_gene_variant,,ENST00000488209,;	2680	85	80	SUCCESS
MAGI1	9223	.	GRCh37	3	65456162	65456162	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	59	0	ENST00000402939.2:c.758-3C>G		p.X253_splice	ENST00000402939	NM_001033057.1	253		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33780.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTGCTTAA	NONE	.	.	.	.	.	ENSP00000385450	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402939	Transcript	.	.	ENSG00000151276	946	.	.	LOW	4/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGI1_HUMAN	MAGI1	HGNC	.	.	UPI0000457132	SNV	MAGI1,splice_region_variant,,ENST00000463103,;MAGI1,splice_region_variant,,ENST00000472257,;MAGI1,splice_region_variant,,ENST00000402939,;MAGI1,splice_region_variant,,ENST00000479287,;MAGI1,splice_region_variant,,ENST00000330909,;MAGI1,splice_region_variant,,ENST00000460329,;MAGI1,splice_region_variant,,ENST00000483466,;MAGI1,splice_region_variant,,ENST00000497477,;MAGI1,splice_region_variant,,ENST00000496734,;MAGI1,splice_region_variant,,ENST00000476403,;MAGI1,splice_region_variant,,ENST00000470990,;MAGI1,splice_region_variant,,ENST00000464060,;MAGI1,splice_region_variant,,ENST00000476703,;	.	59	57	SUCCESS
HS3ST1	9957	.	GRCh37	4	11401299	11401299	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs775031273	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	98	0	ENST00000002596.5:c.331T>A	p.Trp111Arg	p.W111R	ENST00000002596	NM_005114.2	111	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS3408.1	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGGAGA	NONE	byFrequency	.	hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000002596	.	2/2	.	.	.	.	.	.	.	.	rs775031273	2/2	PASS	ENST00000002596	Transcript	.	.	ENSG00000002587	5194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.21)	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,missense_variant,p.Trp111Arg,ENST00000002596,;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	1506	98	46	SUCCESS
NUDT6	11162	.	GRCh37	4	123818824	123818824	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	308	199	601	1	ENST00000304430.5:c.508A>G	p.Met170Val	p.M170V	ENST00000304430	NM_007083.4	170	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS43268.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATATTTT	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR13994,hmmpanther:PTHR13994:SF8,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811,Prints_domain:PR01356	.	.	ENSP00000306070	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000304430	Transcript	.	.	ENSG00000170917	8053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.19)	.	NUDT6_HUMAN	NUDT6	HGNC	.	.	UPI00001308E2	SNV	NUDT6,start_lost,p.Met1?,ENST00000502270,;NUDT6,start_lost,p.Met1?,ENST00000339154,;NUDT6,missense_variant,p.Met170Val,ENST00000304430,;NUDT6,missense_variant,p.Tyr40Cys,ENST00000510735,;FGF2,3_prime_UTR_variant,,ENST00000264498,;FGF2,downstream_gene_variant,,ENST00000608478,;NUDT6,upstream_gene_variant,,ENST00000608639,;NUDT6,3_prime_UTR_variant,,ENST00000512116,;NUDT6,non_coding_transcript_exon_variant,,ENST00000513517,;NUDT6,intron_variant,,ENST00000503370,;	542	602	508	SUCCESS
PALLD	23022	.	GRCh37	4	169815771	169815771	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	60	1	ENST00000505667.1:c.2142T>C	p.Gly714=	p.G714=	ENST00000505667		714	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS54818.1	2142	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTAGGTGCTGA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152	.	.	ENSP00000425556	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000505667	Transcript	1	.	ENSG00000129116	17068	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PALLD_HUMAN	PALLD	HGNC	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN	.	UPI000189A85C	SNV	PALLD,synonymous_variant,p.%3D,ENST00000510998,;PALLD,synonymous_variant,p.%3D,ENST00000507735,;PALLD,synonymous_variant,p.%3D,ENST00000393726,;PALLD,synonymous_variant,p.%3D,ENST00000335742,;PALLD,synonymous_variant,p.%3D,ENST00000261509,;PALLD,synonymous_variant,p.%3D,ENST00000505667,;PALLD,synonymous_variant,p.%3D,ENST00000512127,;CBR4,non_coding_transcript_exon_variant,,ENST00000509108,;CBR4,3_prime_UTR_variant,,ENST00000510042,;PALLD,non_coding_transcript_exon_variant,,ENST00000511611,;PALLD,non_coding_transcript_exon_variant,,ENST00000507325,;PALLD,upstream_gene_variant,,ENST00000513187,;PALLD,upstream_gene_variant,,ENST00000511682,;PALLD,upstream_gene_variant,,ENST00000507699,;	2315	61	43	SUCCESS
FAT1	2195	.	GRCh37	4	187541512	187541512	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	118	0	ENST00000441802.2:c.6228T>C	p.Asp2076=	p.D2076=	ENST00000441802	NM_005245.3	2076	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS47177.1	6228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTATCATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,synonymous_variant,p.%3D,ENST00000441802,;	6438	118	83	SUCCESS
PCDH7	5099	.	GRCh37	4	30723995	30723995	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	182	0	ENST00000361762.2:c.951G>T	p.Leu317Phe	p.L317F	ENST00000361762	NM_002589.2	317	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS54753.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGGCTGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Leu7Phe,ENST00000511884,;PCDH7,missense_variant,p.Leu317Phe,ENST00000543491,;PCDH7,missense_variant,p.Leu317Phe,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000507864,;	951	182	113	SUCCESS
EGR1	1958	.	GRCh37	5	137801456	137801456	+	synonymous_variant	Silent	SNP	C	C	G	rs200905400	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	102	0	ENST00000239938.4:c.6C>G	p.Ala2=	p.A2=	ENST00000239938	NM_001964.2	2	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS4206.1	6	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGCGGC	NONE	.	.	hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF7	.	.	ENSP00000239938	.	1/2	.	.	.	.	.	.	.	.	rs200905400	1/2	PASS	ENST00000239938	Transcript	.	.	ENSG00000120738	3238	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EGR1_HUMAN	EGR1	HGNC	Q546S1_HUMAN	.	UPI00000008CD	SNV	EGR1,synonymous_variant,p.%3D,ENST00000239938,;	278	102	97	SUCCESS
PCDHA13	56136	.	GRCh37	5	140262072	140262072	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	51	126	0	ENST00000289272.2:c.219C>A	p.Asp73Glu	p.D73E	ENST00000289272	NM_018904.2	73	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4240.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACCTTCT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF08266,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.06)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Asp73Glu,ENST00000289272,;PCDHA13,missense_variant,p.Asp73Glu,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	219	126	102	SUCCESS
IRGM	345611	.	GRCh37	5	150227517	150227517	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	11	0	ENST00000522154.1:c.-169C>T		p.*57*	ENST00000522154	NM_001145805.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47313.1	.	RADIA|MUTECT|MUSE	.	CACACCACCAC	NONE	.	.	.	.	.	ENSP00000428220	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000522154	Transcript	1	.	ENSG00000237693	29597	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRGM_HUMAN	IRGM	HGNC	.	.	UPI00004191F5	SNV	IRGM,5_prime_UTR_variant,,ENST00000522154,;IRGM,downstream_gene_variant,,ENST00000609660,;IRGM,upstream_gene_variant,,ENST00000520549,;	945	11	11	SUCCESS
STK10	6793	.	GRCh37	5	171533682	171533682	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs938760232	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	96	0	ENST00000176763.5:c.730C>T	p.Arg244Trp	p.R244W	ENST00000176763	NM_005990.3	244	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS34290.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGCATGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF195,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000176763	.	6/19	.	.	.	.	.	.	.	.	COSM3853730	6/19	PASS	ENST00000176763	Transcript	1	.	ENSG00000072786	11388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	STK10_HUMAN	STK10	HGNC	.	.	UPI0000136104	SNV	STK10,missense_variant,p.Arg244Trp,ENST00000176763,;STK10,non_coding_transcript_exon_variant,,ENST00000522936,;STK10,non_coding_transcript_exon_variant,,ENST00000519710,;STK10,downstream_gene_variant,,ENST00000518267,;STK10,downstream_gene_variant,,ENST00000517381,;STK10,non_coding_transcript_exon_variant,,ENST00000517527,;STK10,non_coding_transcript_exon_variant,,ENST00000517524,;STK10,downstream_gene_variant,,ENST00000521322,;STK10,downstream_gene_variant,,ENST00000519441,;	1074	96	98	SUCCESS
RNF44	22838	.	GRCh37	5	175959156	175959156	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs545172577	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	24	216	0	ENST00000274811.4:c.146G>T	p.Arg49Leu	p.R49L	ENST00000274811	NM_014901.4	49	cGg/cTg	0	.	T:0.0008	.	T:0	.	A	R/L	protein_coding	YES	CCDS4404.1	146	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCCGGGCA	NONE	by1000G	.	hmmpanther:PTHR14155:SF79,hmmpanther:PTHR14155	T:0	.	ENSP00000274811	T:0	3/11	.	.	.	.	.	.	.	.	rs545172577	3/11	PASS	ENST00000274811	Transcript	.	T:0.0002	ENSG00000146083	19180	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	T:0	tolerated_low_confidence(0.06)	.	RNF44_HUMAN	RNF44	HGNC	B4DYE0_HUMAN	.	UPI0000073CDA	SNV	RNF44,missense_variant,p.Arg49Leu,ENST00000274811,;RNF44,intron_variant,,ENST00000537487,;RNF44,upstream_gene_variant,,ENST00000506378,;RNF44,downstream_gene_variant,,ENST00000509404,;RNF44,non_coding_transcript_exon_variant,,ENST00000504434,;RNF44,intron_variant,,ENST00000513029,;RNF44,intron_variant,,ENST00000504160,;RNF44,upstream_gene_variant,,ENST00000515051,;RNF44,upstream_gene_variant,,ENST00000508478,;	671	216	182	SUCCESS
SQSTM1	8878	.	GRCh37	5	179260608	179260608	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	10	116	0	ENST00000389805.4:c.991T>A	p.Cys331Ser	p.C331S	ENST00000389805	NM_003900.4	331	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS34317.1	991	RADIA|MUTECT|MUSE|VARSCANS	.	ATAACTGTTCA	NONE	.	.	hmmpanther:PTHR15090	.	.	ENSP00000374455	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000389805	Transcript	1	.	ENSG00000161011	11280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.68)	.	SQSTM_HUMAN	SQSTM1	HGNC	E9PFW8_HUMAN,C9JRJ8_HUMAN	.	UPI0000071099	SNV	SQSTM1,missense_variant,p.Cys331Ser,ENST00000389805,;SQSTM1,missense_variant,p.Cys247Ser,ENST00000376929,;SQSTM1,missense_variant,p.Cys247Ser,ENST00000402874,;SQSTM1,missense_variant,p.Cys247Ser,ENST00000360718,;SQSTM1,intron_variant,,ENST00000510187,;C5orf45,downstream_gene_variant,,ENST00000520698,;C5orf45,downstream_gene_variant,,ENST00000292586,;C5orf45,downstream_gene_variant,,ENST00000518219,;C5orf45,downstream_gene_variant,,ENST00000376931,;C5orf45,downstream_gene_variant,,ENST00000521333,;C5orf45,downstream_gene_variant,,ENST00000523084,;C5orf45,downstream_gene_variant,,ENST00000403396,;C5orf45,downstream_gene_variant,,ENST00000518235,;C5orf45,downstream_gene_variant,,ENST00000523267,;SQSTM1,downstream_gene_variant,,ENST00000466342,;C5orf45,downstream_gene_variant,,ENST00000522663,;C5orf45,downstream_gene_variant,,ENST00000521299,;C5orf45,downstream_gene_variant,,ENST00000518950,;	1169	116	93	SUCCESS
MAPK9	5601	.	GRCh37	5	179696379	179696380	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	155	27	147	0	ENST00000452135.2:c.152_153del	p.Asn51SerfsTer22	p.N51Sfs*22	ENST00000452135		51	aAT/a	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS4453.1	152-153	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCAACATTTATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF167,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000394560	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000452135	Transcript	.	.	ENSG00000050748	6886	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MK09_HUMAN	MAPK9	HGNC	E5RJ57_HUMAN	.	UPI000006E3AD	deletion	MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000539014,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000347470,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000393360,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000425491,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000523583,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000343111,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000455781,;MAPK9,frameshift_variant,p.Asn51SerfsTer22,ENST00000452135,;MAPK9,3_prime_UTR_variant,,ENST00000397072,;MAPK9,upstream_gene_variant,,ENST00000523135,;MAPK9,3_prime_UTR_variant,,ENST00000393362,;	451-452	147	182	SUCCESS
KIAA0947	0	.	GRCh37	5	5462837	5462838	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	66	0	ENST00000296564.7:c.3395dup	p.Asn1132LysfsTer29	p.N1132Kfs*29	ENST00000296564	NM_015325.2	1130	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS47187.1	3390-3391	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACAGAAAAA	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	insertion	KIAA0947,frameshift_variant,p.Asn1132LysfsTer29,ENST00000296564,;	3612-3613	66	103	SUCCESS
MIER3	166968	.	GRCh37	5	56233448	56233448	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	88	178	0	ENST00000381199.3:c.393G>T	p.Val131=	p.V131=	ENST00000381199		131	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3973.2	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCACAGA	NONE	.	.	hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF22	.	.	ENSP00000370611	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000381213	Transcript	.	.	ENSG00000155545	26678	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIER3_HUMAN	MIER3	HGNC	A8MQD4_HUMAN	.	UPI000020C7A0	SNV	MIER3,synonymous_variant,p.%3D,ENST00000381199,;MIER3,synonymous_variant,p.%3D,ENST00000381226,;MIER3,synonymous_variant,p.%3D,ENST00000336942,;MIER3,synonymous_variant,p.%3D,ENST00000409421,;MIER3,synonymous_variant,p.%3D,ENST00000381213,;AC016644.1,upstream_gene_variant,,ENST00000438553,;MIER3,3_prime_UTR_variant,,ENST00000452157,;MIER3,3_prime_UTR_variant,,ENST00000451637,;MIER3,downstream_gene_variant,,ENST00000480115,;	416	179	170	SUCCESS
HAPLN1	1404	.	GRCh37	5	82940201	82940201	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	14	182	0	ENST00000274341.4:c.756T>C	p.Cys252=	p.C252=	ENST00000274341	NM_001884.3	252	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS4061.1	756	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAACAGAA	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF10,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436,Prints_domain:PR01265	.	.	ENSP00000274341	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000274341	Transcript	.	.	ENSG00000145681	2380	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HPLN1_HUMAN	HAPLN1	HGNC	D6RG04_HUMAN,D6RC59_HUMAN,D6RBX9_HUMAN,D6RBS1_HUMAN	.	UPI0000131BFF	SNV	HAPLN1,synonymous_variant,p.%3D,ENST00000510978,;HAPLN1,synonymous_variant,p.%3D,ENST00000274341,;HAPLN1,downstream_gene_variant,,ENST00000508307,;HAPLN1,downstream_gene_variant,,ENST00000503117,;HAPLN1,downstream_gene_variant,,ENST00000504713,;	1607	182	135	SUCCESS
GPR98	0	.	GRCh37	5	90002212	90002212	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1187588417	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	36	198	0	ENST00000405460.2:c.8730+1G>A		p.X2910_splice	ENST00000405460	NM_032119.3	2910		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47246.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGTAAAA	NONE	.	.	.	.	.	ENSP00000384582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	HIGH	38/89	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,splice_donor_variant,,ENST00000405460,;GPR98,splice_donor_variant,,ENST00000509621,;	.	198	196	SUCCESS
CAST	831	.	GRCh37	5	96098095	96098096	+	intron_variant	Intron	DEL	TT	TT	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	193	19	253	0	ENST00000341926.3:c.1683+19_1683+20delinsA		p.*561*	ENST00000341926				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4085.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	TCTTATTTGGGAG	NONE	.	.	.	.	.	ENSP00000296754	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000296754	Transcript	.	.	ENSG00000164307	18173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERAP1_HUMAN	ERAP1	HGNC	D6RAL9_HUMAN	.	UPI000045731D	substitution	ERAP1,3_prime_UTR_variant,,ENST00000296754,;CAST,intron_variant,,ENST00000508608,;CAST,intron_variant,,ENST00000395813,;CAST,intron_variant,,ENST00000511049,;CAST,intron_variant,,ENST00000508579,;CAST,intron_variant,,ENST00000508830,;CAST,intron_variant,,ENST00000325674,;CAST,intron_variant,,ENST00000510756,;CAST,intron_variant,,ENST00000511782,;CAST,intron_variant,,ENST00000510156,;CAST,intron_variant,,ENST00000359176,;CAST,intron_variant,,ENST00000395812,;CAST,intron_variant,,ENST00000309190,;CAST,intron_variant,,ENST00000509903,;CAST,intron_variant,,ENST00000341926,;CAST,intron_variant,,ENST00000510500,;CAST,intron_variant,,ENST00000338252,;CAST,intron_variant,,ENST00000437034,;CAST,intron_variant,,ENST00000515663,;CAST,intron_variant,,ENST00000504465,;CAST,intron_variant,,ENST00000348386,;CAST,intron_variant,,ENST00000484552,;CAST,intron_variant,,ENST00000510098,;	3913-3914	253	212	SUCCESS
CCNC	892	.	GRCh37	6	100006184	100006184	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	34	0	ENST00000520429.1:c.346+189A>G		p.*116*	ENST00000520429	NM_005190.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34502.1	.	MUTECT|MUSE	.	CTTTATATCTT	NONE	.	.	.	.	.	ENSP00000428982	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000520429	Transcript	.	.	ENSG00000112237	1581	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNC_HUMAN	CCNC	HGNC	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN	.	UPI0000169CFB	SNV	CCNC,3_prime_UTR_variant,,ENST00000482541,;CCNC,intron_variant,,ENST00000369220,;CCNC,intron_variant,,ENST00000524049,;CCNC,intron_variant,,ENST00000523985,;CCNC,intron_variant,,ENST00000520371,;CCNC,intron_variant,,ENST00000518714,;CCNC,intron_variant,,ENST00000520429,;CCNC,intron_variant,,ENST00000369217,;CCNC,intron_variant,,ENST00000486428,;CCNC,intron_variant,,ENST00000523799,;CCNC,intron_variant,,ENST00000521017,;CCNC,intron_variant,,ENST00000523961,;CCNC,intron_variant,,ENST00000326298,;CCNC,intron_variant,,ENST00000523639,;CCNC,intron_variant,,ENST00000484049,;CCNC,downstream_gene_variant,,ENST00000523541,;CCNC,downstream_gene_variant,,ENST00000523310,;	.	34	32	SUCCESS
FOXC1	2296	.	GRCh37	6	1611582	1611582	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	82	0	ENST00000380874.2:c.902C>G	p.Pro301Arg	p.P301R	ENST00000380874	NM_001453.2	301	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS4473.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF69,hmmpanther:PTHR11829	.	.	ENSP00000370256	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380874	Transcript	.	.	ENSG00000054598	3800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.25)	.	FOXC1_HUMAN	FOXC1	HGNC	C6KMR8_HUMAN	.	UPI000012ADC5	SNV	FOXC1,missense_variant,p.Pro301Arg,ENST00000380874,;	902	82	54	SUCCESS
SLC22A23	63027	.	GRCh37	6	3273355	3273355	+	synonymous_variant	Silent	SNP	G	G	A	rs1194584346	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	32	0	ENST00000406686.3:c.1995C>T	p.His665=	p.H665=	ENST00000406686	NM_015482.1	665	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS47363.1	1995	RADIA|MUTECT|MUSE	.	GCATCGTGGAG	NONE	.	.	hmmpanther:PTHR24064:SF192,hmmpanther:PTHR24064	.	.	ENSP00000385028	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000406686	Transcript	.	.	ENSG00000137266	21106	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S22AN_HUMAN	SLC22A23	HGNC	.	.	UPI0000EE5391	SNV	SLC22A23,synonymous_variant,p.%3D,ENST00000380302,;SLC22A23,synonymous_variant,p.%3D,ENST00000406686,;SLC22A23,synonymous_variant,p.%3D,ENST00000490273,;SLC22A23,synonymous_variant,p.%3D,ENST00000436008,;PSMG4,intron_variant,,ENST00000454610,;PSMG4,intron_variant,,ENST00000451246,;SLC22A23,3_prime_UTR_variant,,ENST00000497691,;PSMG4,downstream_gene_variant,,ENST00000509933,;SLC22A23,downstream_gene_variant,,ENST00000482874,;	1995	32	25	SUCCESS
SLC22A23	63027	.	GRCh37	6	3273357	3273357	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	30	0	ENST00000406686.3:c.1993C>A	p.His665Asn	p.H665N	ENST00000406686	NM_015482.1	665	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS47363.1	1993	RADIA|MUTECT|MUSE	.	ATCGTGGAGGC	NONE	.	.	hmmpanther:PTHR24064:SF192,hmmpanther:PTHR24064	.	.	ENSP00000385028	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000406686	Transcript	.	.	ENSG00000137266	21106	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.297)	.	deleterious(0.02)	.	S22AN_HUMAN	SLC22A23	HGNC	.	.	UPI0000EE5391	SNV	SLC22A23,missense_variant,p.His384Asn,ENST00000380302,;SLC22A23,missense_variant,p.His665Asn,ENST00000406686,;SLC22A23,missense_variant,p.His384Asn,ENST00000490273,;SLC22A23,missense_variant,p.His673Asn,ENST00000436008,;PSMG4,intron_variant,,ENST00000454610,;PSMG4,intron_variant,,ENST00000451246,;SLC22A23,3_prime_UTR_variant,,ENST00000497691,;PSMG4,downstream_gene_variant,,ENST00000509933,;SLC22A23,downstream_gene_variant,,ENST00000482874,;	1993	30	25	SUCCESS
SRPK1	6732	.	GRCh37	6	35888893	35888893	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	71	0	ENST00000373825.2:c.-60G>T		p.*20*	ENST00000373825				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47415.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCCGCGG	NONE	.	.	.	.	.	ENSP00000362931	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000373825	Transcript	.	.	ENSG00000096063	11305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRPK1_HUMAN	SRPK1	HGNC	D6RBF8_HUMAN	.	UPI000020DBDD	SNV	SRPK1,5_prime_UTR_variant,,ENST00000423325,;SRPK1,5_prime_UTR_variant,,ENST00000510290,;SRPK1,5_prime_UTR_variant,,ENST00000373822,;SRPK1,5_prime_UTR_variant,,ENST00000373825,;SRPK1,upstream_gene_variant,,ENST00000507909,;SRPK1,upstream_gene_variant,,ENST00000512445,;SRPK1,upstream_gene_variant,,ENST00000361690,;SRPK1,5_prime_UTR_variant,,ENST00000508473,;SRPK1,upstream_gene_variant,,ENST00000346162,;SRPK1,upstream_gene_variant,,ENST00000513367,;	227	71	50	SUCCESS
ZNF318	24149	.	GRCh37	6	43307288	43307288	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750653089	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	91	0	ENST00000361428.2:c.4448C>T	p.Ser1483Phe	p.S1483F	ENST00000361428	NM_014345.2	1483	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS4895.2	4448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGATACA	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	10/10	.	.	.	.	.	.	.	.	rs750653089	10/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Ser1483Phe,ENST00000361428,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000605935,;	4526	91	86	SUCCESS
POLR1C	9533	.	GRCh37	6	43487179	43487179	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	36	133	0	ENST00000372389.3:c.249+1G>T		p.X83_splice	ENST00000372389	NM_203290.2	83		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4901.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGTATTG	NONE	.	.	.	.	.	ENSP00000361465	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372389	Transcript	.	.	ENSG00000171453	20194	.	.	HIGH	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPAC1_HUMAN	POLR1C	HGNC	Q96HT3_HUMAN,D6RDJ3_HUMAN	.	UPI00001345BC	SNV	POLR1C,splice_donor_variant,,ENST00000372389,;POLR1C,splice_donor_variant,,ENST00000372344,;POLR1C,splice_donor_variant,,ENST00000304004,;POLR1C,splice_donor_variant,,ENST00000423780,;POLR1C,splice_donor_variant,,ENST00000428025,;XPO5,downstream_gene_variant,,ENST00000265351,;YIPF3,upstream_gene_variant,,ENST00000506469,;YIPF3,upstream_gene_variant,,ENST00000503972,;YIPF3,upstream_gene_variant,,ENST00000372422,;YIPF3,upstream_gene_variant,,ENST00000500090,;YIPF3,upstream_gene_variant,,ENST00000511831,;RP3-337H4.9,non_coding_transcript_exon_variant,,ENST00000607571,;POLR1C,splice_donor_variant,,ENST00000455605,;POLR1C,splice_donor_variant,,ENST00000488601,;POLR1C,splice_donor_variant,,ENST00000481352,;POLR1C,non_coding_transcript_exon_variant,,ENST00000512472,;YIPF3,upstream_gene_variant,,ENST00000488966,;YIPF3,upstream_gene_variant,,ENST00000460903,;YIPF3,upstream_gene_variant,,ENST00000502714,;YIPF3,upstream_gene_variant,,ENST00000490447,;YIPF3,upstream_gene_variant,,ENST00000510102,;XPO5,downstream_gene_variant,,ENST00000455854,;YIPF3,upstream_gene_variant,,ENST00000455768,;YIPF3,upstream_gene_variant,,ENST00000416380,;YIPF3,upstream_gene_variant,,ENST00000460547,;	.	133	110	SUCCESS
PKHD1	5314	.	GRCh37	6	51524083	51524087	+	frameshift_variant	Frame_Shift_Del	DEL	CTGTC	CTGTC	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	CTGTC	CTGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	92	0	ENST00000371117.3:c.10837_10841del	p.Asp3613Ter	p.D3613*	ENST00000371117	NM_138694.3	3613	GACAGt/t	0	.	.	.	.	.	-	DS/X	protein_coding	YES	CCDS4935.1	10837-10841	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCTACTGTCAGCAA	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	61/67	.	.	.	.	.	.	.	.	.	61/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	deletion	PKHD1,frameshift_variant,p.Asp3613Ter,ENST00000371117,;	11113-11117	92	85	SUCCESS
F13A1	2162	.	GRCh37	6	6145859	6145859	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	109	0	ENST00000264870.3:c.2192C>T	p.Ser731Phe	p.S731F	ENST00000264870	NM_000129.3	731	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS4496.1	2192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGAAGGT	NONE	.	.	hmmpanther:PTHR11590:SF42,hmmpanther:PTHR11590	.	.	ENSP00000264870	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000264870	Transcript	.	.	ENSG00000124491	3531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	deleterious_low_confidence(0.01)	.	F13A_HUMAN	F13A1	HGNC	Q9NQP5_HUMAN	.	UPI000013D585	SNV	F13A1,missense_variant,p.Ser731Phe,ENST00000264870,;	2458	109	90	SUCCESS
LCA5	167691	.	GRCh37	6	80228799	80228799	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	10	0	ENST00000369846.4:c.-188A>G		p.*63*	ENST00000369846	NM_001122769.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4990.1	.	MUTECT|MUSE	.	TTTTTTGCCCT	NONE	.	.	.	.	.	ENSP00000376686	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,5_prime_UTR_variant,,ENST00000369846,;LCA5,5_prime_UTR_variant,,ENST00000467898,;LCA5,5_prime_UTR_variant,,ENST00000392959,;	425	10	12	SUCCESS
PLXNA4	91584	.	GRCh37	7	131849014	131849014	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	74	0	ENST00000321063.4:c.4387T>G	p.Cys1463Gly	p.C1463G	ENST00000321063	NM_020911.1	1463	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS43646.1	4387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGAACA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000352882	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.14)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Cys1463Gly,ENST00000321063,;PLXNA4,missense_variant,p.Cys1463Gly,ENST00000359827,;	5350	74	63	SUCCESS
SLC13A4	26266	.	GRCh37	7	135412214	135412214	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	53	164	0	ENST00000354042.4:c.31C>G	p.Arg11Gly	p.R11G	ENST00000354042	NM_012450.2	11	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS5840.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGGACTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	.	.	ENSP00000297282	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,missense_variant,p.Arg11Gly,ENST00000378428,;SLC13A4,missense_variant,p.Arg11Gly,ENST00000422620,;SLC13A4,missense_variant,p.Arg11Gly,ENST00000354042,;FAM180A,downstream_gene_variant,,ENST00000338588,;FAM180A,downstream_gene_variant,,ENST00000435869,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000478310,;FAM180A,downstream_gene_variant,,ENST00000444083,;	721	164	155	SUCCESS
SSPO	0	.	GRCh37	7	149490519	149490519	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	71	0	ENST00000378016.2:n.5995T>G		p.*1999*	ENST00000378016				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTCACCC	NONE	.	.	.	.	.	.	.	39/109	.	.	.	.	.	.	.	.	.	39/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,upstream_gene_variant,,ENST00000472797,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	5995	71	70	SUCCESS
ADCYAP1R1	117	.	GRCh37	7	31139807	31139807	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	51	0	ENST00000304166.4:c.1047-3044A>G		p.*349*	ENST00000304166	NM_001199636.1	371		0	.	.	.	.	.	G	E	protein_coding	YES	CCDS56480.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAACTGTC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000379514	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000396211	Transcript	.	.	ENSG00000078549	242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACR_HUMAN	ADCYAP1R1	HGNC	Q6S991_HUMAN,Q6RKA2_HUMAN,C9JVH3_HUMAN	.	UPI0000DA58BA	SNV	ADCYAP1R1,synonymous_variant,p.%3D,ENST00000409489,;ADCYAP1R1,synonymous_variant,p.%3D,ENST00000396211,;ADCYAP1R1,intron_variant,,ENST00000409363,;ADCYAP1R1,intron_variant,,ENST00000304166,;ADCYAP1R1,intron_variant,,ENST00000436116,;	1184	51	51	SUCCESS
ZNF92	168374	.	GRCh37	7	64864654	64864654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	47	163	0	ENST00000328747.7:c.1627G>A	p.Asp543Asn	p.D543N	ENST00000328747	NM_152626.2	543	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS34646.1	1627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTGACAAA	NONE	.	.	PROSITE_profiles:PS50157,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000332595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328747	Transcript	.	.	ENSG00000146757	13168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.02)	.	ZNF92_HUMAN	ZNF92	HGNC	C9IZS8_HUMAN	.	UPI0000073CE6	SNV	ZNF92,missense_variant,p.Asp474Asn,ENST00000450302,;ZNF92,missense_variant,p.Asp467Asn,ENST00000431504,;ZNF92,missense_variant,p.Asp511Asn,ENST00000357512,;ZNF92,missense_variant,p.Asp543Asn,ENST00000328747,;	1826	163	144	SUCCESS
PTPN12	5782	.	GRCh37	7	77256222	77256222	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs780590972	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	133	0	ENST00000248594.6:c.1226A>G	p.Tyr409Cys	p.Y409C	ENST00000248594	NM_002835.3	409	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5592.1	1226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTATAGTA	NONE	byFrequency	.	PIRSF_domain:PIRSF000932	.	.	ENSP00000248594	.	13/18	.	.	.	.	.	.	.	.	rs780590972	13/18	PASS	ENST00000248594	Transcript	.	.	ENSG00000127947	9645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	PTN12_HUMAN	PTPN12	HGNC	F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN	.	UPI000013CC4C	SNV	PTPN12,missense_variant,p.Tyr290Cys,ENST00000415482,;PTPN12,missense_variant,p.Tyr279Cys,ENST00000435495,;PTPN12,missense_variant,p.Tyr409Cys,ENST00000248594,;PTPN12,upstream_gene_variant,,ENST00000407343,;	1498	133	123	SUCCESS
VPS13B	157680	.	GRCh37	8	100123343	100123343	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	276	91	165	0	ENST00000358544.2:c.598A>T	p.Arg200Ter	p.R200*	ENST00000358544	NM_017890.4	200	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS6280.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGAGAAAG	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	6/62	.	.	.	.	.	.	.	.	.	6/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,stop_gained,p.Arg200Ter,ENST00000441350,;VPS13B,stop_gained,p.Arg200Ter,ENST00000355155,;VPS13B,stop_gained,p.Arg200Ter,ENST00000395996,;VPS13B,stop_gained,p.Arg200Ter,ENST00000358544,;VPS13B,stop_gained,p.Arg200Ter,ENST00000357162,;VPS13B,intron_variant,,ENST00000524330,;VPS13B,stop_gained,p.Arg200Ter,ENST00000496144,;	709	165	367	SUCCESS
ZFPM2	23414	.	GRCh37	8	106811123	106811123	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	7	70	0	ENST00000407775.2:c.911C>G	p.Thr304Ser	p.T304S	ENST00000407775	NM_012082.3	304	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS47908.1	911	MUTECT|MUSE	.	GTGCACCAAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000384179	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.654)	.	tolerated(0.76)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Thr172Ser,ENST00000517361,;ZFPM2,missense_variant,p.Thr35Ser,ENST00000378472,;ZFPM2,missense_variant,p.Thr172Ser,ENST00000520492,;ZFPM2,missense_variant,p.Thr304Ser,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1161	70	184	SUCCESS
ZNF250	58500	.	GRCh37	8	146107094	146107094	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	32	80	0	ENST00000292579.7:c.1489C>A	p.His497Asn	p.H497N	ENST00000292579	NM_021061.4	497	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS34972.1	1489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGCACAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF112,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000292579	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292579	Transcript	.	.	ENSG00000196150	13044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	ZN250_HUMAN	ZNF250	HGNC	.	.	UPI0000197F51	SNV	ZNF250,missense_variant,p.His497Asn,ENST00000292579,;ZNF250,missense_variant,p.His492Asn,ENST00000417550,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;ZNF250,intron_variant,,ENST00000533543,;	1606	80	57	SUCCESS
ADAM9	8754	.	GRCh37	8	38947598	38947598	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	134	0	ENST00000487273.2:c.2101G>A	p.Val701Ile	p.V701I	ENST00000487273	NM_003816.2	701	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS6112.1	2101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11905:SF32,hmmpanther:PTHR11905	.	.	ENSP00000419446	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000487273	Transcript	1	.	ENSG00000168615	216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	tolerated(0.74)	.	ADAM9_HUMAN	ADAM9	HGNC	B4DDM8_HUMAN	.	UPI0000048D87	SNV	ADAM9,missense_variant,p.Val701Ile,ENST00000487273,;ADAM9,3_prime_UTR_variant,,ENST00000468065,;ADAM9,3_prime_UTR_variant,,ENST00000379917,;ADAM9,non_coding_transcript_exon_variant,,ENST00000463437,;ADAM9,intron_variant,,ENST00000481873,;	2179	134	64	SUCCESS
LYPLA1	10434	.	GRCh37	8	55014364	55014364	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	120	1	ENST00000316963.3:c.20C>T	p.Ser7Leu	p.S7L	ENST00000316963	NM_001279357.1	7	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS6157.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTGACATG	NONE	.	.	hmmpanther:PTHR10655:SF22,hmmpanther:PTHR10655,Gene3D:3.40.50.1820	.	.	ENSP00000320043	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000316963	Transcript	.	.	ENSG00000120992	6737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.45)	.	deleterious(0)	.	LYPA1_HUMAN	LYPLA1	HGNC	Q6IAQ1_HUMAN,E5RJ48_HUMAN,B4DJV9_HUMAN	.	UPI0000072858	SNV	LYPLA1,missense_variant,p.Ser7Leu,ENST00000518546,;LYPLA1,missense_variant,p.Ser7Leu,ENST00000343231,;LYPLA1,missense_variant,p.Ser7Leu,ENST00000522007,;LYPLA1,missense_variant,p.Ser7Leu,ENST00000316963,;LYPLA1,missense_variant,p.Ser7Leu,ENST00000521898,;LYPLA1,upstream_gene_variant,,ENST00000521352,;LYPLA1,non_coding_transcript_exon_variant,,ENST00000521856,;LYPLA1,non_coding_transcript_exon_variant,,ENST00000519926,;LYPLA1,upstream_gene_variant,,ENST00000520896,;LYPLA1,upstream_gene_variant,,ENST00000519272,;LYPLA1,upstream_gene_variant,,ENST00000519891,;LYPLA1,non_coding_transcript_exon_variant,,ENST00000517297,;	214	122	89	SUCCESS
VCPIP1	80124	.	GRCh37	8	67578049	67578049	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	98	0	ENST00000310421.4:c.1145A>G	p.Gln382Arg	p.Q382R	ENST00000310421	NM_025054.4	382	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS6192.1	1145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTGAGGC	NONE	.	.	hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF1	.	.	ENSP00000309031	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000310421	Transcript	.	.	ENSG00000175073	30897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0)	.	VCIP1_HUMAN	VCPIP1	HGNC	.	.	UPI00001D3EF3	SNV	VCPIP1,missense_variant,p.Gln382Arg,ENST00000310421,;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,;C8orf44,upstream_gene_variant,,ENST00000519561,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;	1404	98	98	SUCCESS
C8orf34	116328	.	GRCh37	8	69552726	69552726	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	67	129	0	ENST00000518698.1:c.1221C>T	p.Asn407=	p.N407=	ENST00000518698	NM_052958.2	407	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS6203.2	1221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACATCTG	NONE	.	.	hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF2	.	.	ENSP00000427820	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000518698	Transcript	.	.	ENSG00000165084	30905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CH034_HUMAN	C8orf34	HGNC	.	.	UPI000021D12D	SNV	C8orf34,synonymous_variant,p.%3D,ENST00000539993,;C8orf34,synonymous_variant,p.%3D,ENST00000337103,;C8orf34,synonymous_variant,p.%3D,ENST00000325233,;C8orf34,synonymous_variant,p.%3D,ENST00000518698,;C8orf34,intron_variant,,ENST00000518515,;C8orf34,3_prime_UTR_variant,,ENST00000521406,;	1512	129	135	SUCCESS
ZFHX4	79776	.	GRCh37	8	77768445	77768445	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	91	0	ENST00000521891.2:c.9288A>T	p.Thr3096=	p.T3096=	ENST00000521891	NM_024721.4	3096	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47878.2	9288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACAGCCTA	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;	9736	91	126	SUCCESS
POP1	10940	.	GRCh37	8	99142195	99142205	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	TGAAACTATAG	TGAAACTATAG	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	TGAAACTATAG	TGAAACTATAG	.	.	.	.	.	.	.	.	.	.	.	.	.	213	21	131	0	ENST00000349693.3:c.487-11_487-1del		p.X163_splice	ENST00000349693	NM_015029.2	163		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6277.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTACTTGAAACTATAGGCGGA	NONE	.	.	.	.	.	ENSP00000385787	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000401707	Transcript	1	.	ENSG00000104356	30129	.	.	HIGH	4/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POP1_HUMAN	POP1	HGNC	E5RK39_HUMAN	.	UPI0000131F33	deletion	POP1,splice_acceptor_variant,,ENST00000401707,;POP1,splice_acceptor_variant,,ENST00000522319,;POP1,splice_acceptor_variant,,ENST00000349693,;	.	131	234	SUCCESS
LHX6	26468	.	GRCh37	9	124989224	124989224	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	44	0	ENST00000373755.2:c.155T>C	p.Val52Ala	p.V52A	ENST00000373755	NM_001242334.1	52	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6838.2	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGACAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF10	.	.	ENSP00000377854	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000394319	Transcript	.	.	ENSG00000106852	21735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.18)	.	LHX6_HUMAN	LHX6	HGNC	H0YMY8_HUMAN,Q3SY65_HUMAN,H0YMH3_HUMAN	.	UPI0000E0BF7D	SNV	LHX6,missense_variant,p.Val52Ala,ENST00000373755,;LHX6,missense_variant,p.Val81Ala,ENST00000340587,;LHX6,missense_variant,p.Val81Ala,ENST00000394319,;LHX6,missense_variant,p.Val52Ala,ENST00000373754,;LHX6,missense_variant,p.Val70Ala,ENST00000541397,;LHX6,downstream_gene_variant,,ENST00000560485,;LHX6,downstream_gene_variant,,ENST00000559529,;LHX6,non_coding_transcript_exon_variant,,ENST00000560152,;LHX6,upstream_gene_variant,,ENST00000558672,;	347	44	25	SUCCESS
TTF1	7270	.	GRCh37	9	135278147	135278147	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	46	0	ENST00000334270.2:c.62del	p.Lys21SerfsTer23	p.K21Sfs*23	ENST00000334270	NM_001205296.1	21	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS6948.1	62	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACACTTTTTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000333920	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000334270	Transcript	.	.	ENSG00000125482	12397	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTF1_HUMAN	TTF1	HGNC	.	.	UPI00001B55A7	deletion	TTF1,frameshift_variant,p.Lys21SerfsTer23,ENST00000334270,;	102	46	44	SUCCESS
GBA2	57704	.	GRCh37	9	35738529	35738530	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	76	0	ENST00000378103.3:c.2047_2048insC	p.Gly683AlafsTer32	p.G683Afs*32	ENST00000378103	NM_020944.2	683	ggc/gCgc	0	.	.	.	.	.	G	G/AX	protein_coding	YES	CCDS6589.1	2047-2048	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGGCCTGTG	NONE	.	.	Superfamily_domains:SSF48208,PIRSF_domain:PIRSF028944,Pfam_domain:PF04685,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654	.	.	ENSP00000367343	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000378103	Transcript	.	.	ENSG00000070610	18986	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBA2_HUMAN	GBA2	HGNC	.	.	UPI0000073FD5	insertion	GBA2,frameshift_variant,p.Gly683AlafsTer32,ENST00000378103,;GBA2,frameshift_variant,p.Gly689AlafsTer32,ENST00000545786,;GBA2,frameshift_variant,p.Gly683AlafsTer32,ENST00000378094,;GBA2,5_prime_UTR_variant,,ENST00000378088,;CREB3,downstream_gene_variant,,ENST00000353704,;GBA2,non_coding_transcript_exon_variant,,ENST00000486797,;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,;GBA2,non_coding_transcript_exon_variant,,ENST00000488292,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000485259,;	2571-2572	76	77	SUCCESS
TMC1	117531	.	GRCh37	9	75406907	75406907	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	46	173	0	ENST00000297784.5:c.1330G>C	p.Gly444Arg	p.G444R	ENST00000297784	NM_138691.2	444	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS6643.1	1330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGGACGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18	.	.	ENSP00000297784	.	16/24	.	.	.	.	.	.	.	.	CM094818	16/24	PASS	ENST00000297784	Transcript	.	.	ENSG00000165091	16513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.563)	.	deleterious(0)	.	TMC1_HUMAN	TMC1	HGNC	.	.	UPI0000161FA9	SNV	TMC1,missense_variant,p.Gly444Arg,ENST00000297784,;TMC1,missense_variant,p.Gly444Arg,ENST00000340019,;TMC1,missense_variant,p.Gly444Arg,ENST00000396237,;TMC1,upstream_gene_variant,,ENST00000486417,;	1870	173	135	SUCCESS
ZBED1	9189	.	GRCh37	X	2408700	2408700	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	105	0	ENST00000381218.3:c.61G>T	p.Ala21Ser	p.A21S	ENST00000381218		21	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14118.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCGCGGG	NONE	.	.	SMART_domains:SM00614,hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF2,PROSITE_profiles:PS50808	.	.	ENSP00000370621	.	2/2	.	.	.	.	.	.	.	.	COSM3694230,COSM3694229	2/2	PASS	ENST00000381223	Transcript	.	.	ENSG00000214717	447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	tolerated(0.08)	1,1	ZBED1_HUMAN	ZBED1	HGNC	C9JXP4_HUMAN	.	UPI0000073DE9	SNV	ZBED1,missense_variant,p.Ala21Ser,ENST00000381223,;ZBED1,missense_variant,p.Ala21Ser,ENST00000461691,;ZBED1,missense_variant,p.Ala21Ser,ENST00000381222,;ZBED1,missense_variant,p.Ala21Ser,ENST00000381218,;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000334651,;DHRSX,intron_variant,,ENST00000412516,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,upstream_gene_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	265	105	106	SUCCESS
MED12	9968	.	GRCh37	X	70346907	70346907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	28	47	0	ENST00000374080.3:c.2774G>T	p.Cys925Phe	p.C925F	ENST00000374080		925	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS43970.1	2774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGCATCG	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4	.	.	ENSP00000363193	.	20/45	.	.	.	.	.	.	.	.	.	20/45	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.368)	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	SNV	MED12,missense_variant,p.Cys925Phe,ENST00000374102,;MED12,missense_variant,p.Cys925Phe,ENST00000333646,;MED12,missense_variant,p.Cys925Phe,ENST00000374080,;MED12,non_coding_transcript_exon_variant,,ENST00000462984,;MED12,non_coding_transcript_exon_variant,,ENST00000471663,;MED12,upstream_gene_variant,,ENST00000489199,;MED12,upstream_gene_variant,,ENST00000460771,;	2806	47	42	SUCCESS
COX15	1355	.	GRCh37	10	101491746	101491746	+	synonymous_variant	Silent	SNP	G	G	A	rs1425549542	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	86	169	0	ENST00000016171.5:c.61C>T	p.Leu21=	p.L21=	ENST00000016171		21	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7482.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGGAGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23289	.	.	ENSP00000016171	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000016171	Transcript	1	.	ENSG00000014919	2263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COX15_HUMAN	COX15	HGNC	B4DQM2_HUMAN	.	UPI000006E691	SNV	COX15,synonymous_variant,p.%3D,ENST00000370483,;COX15,synonymous_variant,p.%3D,ENST00000016171,;CUTC,upstream_gene_variant,,ENST00000370476,;CUTC,upstream_gene_variant,,ENST00000370472,;CUTC,intron_variant,,ENST00000493385,;CUTC,upstream_gene_variant,,ENST00000471520,;	112	169	166	SUCCESS
ADARB2	105	.	GRCh37	10	1405703	1405703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	108	0	ENST00000381312.1:c.597C>A	p.His199Gln	p.H199Q	ENST00000381312	NM_018702.3	199	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS7058.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGTGCGC	NONE	.	.	hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910	.	.	ENSP00000370713	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.06)	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,missense_variant,p.His199Gln,ENST00000381312,;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	923	108	122	SUCCESS
CUBN	8029	.	GRCh37	10	17087153	17087153	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	56	146	0	ENST00000377833.4:c.3525G>T	p.Thr1175=	p.T1175=	ENST00000377833	NM_001081.3	1175	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7113.1	3525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAACGTGCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	25/67	.	.	.	.	.	.	.	.	.	25/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,synonymous_variant,p.%3D,ENST00000377833,;	3591	146	144	SUCCESS
CUBN	8029	.	GRCh37	10	17113590	17113590	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	34	0	ENST00000377833.4:c.2460A>C	p.Glu820Asp	p.E820D	ENST00000377833	NM_001081.3	820	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS7113.1	2460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAATTCATC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042	.	.	ENSP00000367064	.	19/67	.	.	.	.	.	.	.	.	.	19/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.45)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Glu820Asp,ENST00000377833,;	2526	34	34	SUCCESS
PFKFB3	5209	.	GRCh37	10	6245261	6245261	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	95	208	1	ENST00000379775.4:c.38T>C	p.Ile13Thr	p.I13T	ENST00000379775	NM_004566.3	13	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7078.1	38	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATCTGGG	NONE	.	.	PIRSF_domain:PIRSF000709,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	.	.	ENSP00000369100	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,missense_variant,p.Ile13Thr,ENST00000379785,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000317350,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000379782,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000360521,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000379775,;PFKFB3,intron_variant,,ENST00000540253,;PFKFB3,intron_variant,,ENST00000536985,;PFKFB3,intron_variant,,ENST00000379789,;RP11-414H17.5,upstream_gene_variant,,ENST00000427630,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000467491,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000477914,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000461744,;PFKFB3,missense_variant,p.Ile13Thr,ENST00000490474,;	368	209	224	SUCCESS
CTNNA3	29119	.	GRCh37	10	69407267	69407267	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	51	0	ENST00000433211.2:c.5C>T	p.Ser2Leu	p.S2L	ENST00000433211	NM_013266.2	2	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS7269.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGACATG	NONE	.	.	.	.	.	ENSP00000389714	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000433211	Transcript	1	.	ENSG00000183230	2511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	deleterious_low_confidence(0)	.	CTNA3_HUMAN	CTNNA3	HGNC	Q5SW23_HUMAN,A6NKP0_HUMAN	.	UPI000004A0E6	SNV	CTNNA3,missense_variant,p.Ser2Leu,ENST00000433211,;CTNNA3,missense_variant,p.Ser2Leu,ENST00000330298,;CTNNA3,missense_variant,p.Ser2Leu,ENST00000545309,;CTNNA3,missense_variant,p.Ser2Leu,ENST00000373744,;	180	51	54	SUCCESS
VCL	7414	.	GRCh37	10	75757914	75757914	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	48	0	ENST00000211998.4:c.-52G>T		p.*18*	ENST00000211998	NM_014000.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7341.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGTGGAT	NONE	.	.	.	.	.	ENSP00000211998	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000211998	Transcript	1	.	ENSG00000035403	12665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VINC_HUMAN	VCL	HGNC	Q5JQ13_HUMAN	.	UPI0000167B54	SNV	VCL,5_prime_UTR_variant,,ENST00000211998,;VCL,5_prime_UTR_variant,,ENST00000417648,;VCL,5_prime_UTR_variant,,ENST00000372755,;VCL,non_coding_transcript_exon_variant,,ENST00000478896,;	43	48	40	SUCCESS
KIF11	3832	.	GRCh37	10	94373259	94373259	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	99	0	ENST00000260731.3:c.915A>T	p.Arg305Ser	p.R305S	ENST00000260731	NM_004523.3	305	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7422.1	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAACACC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF105,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260731	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000260731	Transcript	1	.	ENSG00000138160	6388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	deleterious(0)	.	KIF11_HUMAN	KIF11	HGNC	.	.	UPI000013D0FC	SNV	KIF11,missense_variant,p.Arg305Ser,ENST00000260731,;	1005	99	87	SUCCESS
CYP2C8	1558	.	GRCh37	10	96796925	96796925	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	49	146	1	ENST00000371270.3:c.1433C>G	p.Ser478Cys	p.S478C	ENST00000371270	NM_000770.3	478	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS7438.1	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAAACA	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360317	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371270	Transcript	1	.	ENSG00000138115	2622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	tolerated(0.08)	.	CP2C8_HUMAN	CYP2C8	HGNC	B7Z1F5_HUMAN	.	UPI0000128256	SNV	CYP2C8,missense_variant,p.Ser478Cys,ENST00000371270,;CYP2C8,missense_variant,p.Ser376Cys,ENST00000535898,;CYP2C8,downstream_gene_variant,,ENST00000539050,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,3_prime_UTR_variant,,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,downstream_gene_variant,,ENST00000479946,;CYP2C8,downstream_gene_variant,,ENST00000531714,;	1528	147	142	SUCCESS
APOC3	345	.	GRCh37	11	116701532	116701532	+	synonymous_variant	Silent	SNP	G	G	A	rs200557528	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	108	1	ENST00000227667.3:c.99G>A	p.Gln33=	p.Q33=	ENST00000227667	NM_000040.1	33	caG/caA	0	.	A:0	.	A:0	.	A	Q	protein_coding	YES	CCDS8377.1	99	MUTECT|MUSE	.	ATGCAGGGTTA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF05778,hmmpanther:PTHR14225,hmmpanther:PTHR14225:SF0	A:0.003	.	ENSP00000227667	A:0	3/4	.	.	.	.	.	.	.	.	rs200557528	3/4	PASS	ENST00000227667	Transcript	.	A:0.0006	ENSG00000110245	610	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	APOC3_HUMAN	APOC3	HGNC	A3KPE2_HUMAN,C9J2Q0_HUMAN	.	UPI0000125C26	SNV	APOC3,synonymous_variant,p.%3D,ENST00000375345,;APOC3,synonymous_variant,p.%3D,ENST00000433777,;APOC3,synonymous_variant,p.%3D,ENST00000227667,;APOA1,downstream_gene_variant,,ENST00000375329,;APOA1,downstream_gene_variant,,ENST00000236850,;APOA1,downstream_gene_variant,,ENST00000375320,;APOA1,downstream_gene_variant,,ENST00000359492,;APOA1,downstream_gene_variant,,ENST00000375323,;APOC3,non_coding_transcript_exon_variant,,ENST00000470144,;	161	109	54	SUCCESS
DSCAML1	57453	.	GRCh37	11	117651257	117651257	+	synonymous_variant	Silent	SNP	C	C	T	rs1169936530	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	44	93	0	ENST00000321322.6:c.495G>A	p.Ala165=	p.A165=	ENST00000321322	NM_020693.2	165	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8384.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCGCGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Arg7Gln,ENST00000525836,;DSCAML1,synonymous_variant,p.%3D,ENST00000321322,;DSCAML1,intron_variant,,ENST00000527706,;	497	93	63	SUCCESS
OTUB1	55611	.	GRCh37	11	63765004	63765004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	16	56	0	ENST00000428192.2:c.802A>G	p.Ile268Val	p.I268V	ENST00000428192		268	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8055.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGATATCCTC	NONE	.	.	PROSITE_profiles:PS50802,hmmpanther:PTHR12931,hmmpanther:PTHR12931:SF16,Pfam_domain:PF10275,PIRSF_domain:PIRSF013503,Superfamily_domains:SSF54001	.	.	ENSP00000444357	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000538426	Transcript	.	.	ENSG00000167770	23077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.355)	.	deleterious(0.04)	.	OTUB1_HUMAN	OTUB1	HGNC	F5GYN4_HUMAN	.	UPI000000D868	SNV	OTUB1,missense_variant,p.Ile238Val,ENST00000543988,;OTUB1,missense_variant,p.Ile277Val,ENST00000543004,;OTUB1,missense_variant,p.Ile268Val,ENST00000538426,;OTUB1,missense_variant,p.Ile305Val,ENST00000422031,;OTUB1,missense_variant,p.Ile167Val,ENST00000541478,;OTUB1,missense_variant,p.Ile268Val,ENST00000428192,;OTUB1,intron_variant,,ENST00000535715,;MACROD1,downstream_gene_variant,,ENST00000255681,;MACROD1,downstream_gene_variant,,ENST00000543422,;OTUB1,upstream_gene_variant,,ENST00000536943,;MACROD1,downstream_gene_variant,,ENST00000541041,;MACROD1,downstream_gene_variant,,ENST00000538042,;OTUB1,non_coding_transcript_exon_variant,,ENST00000301453,;MACROD1,downstream_gene_variant,,ENST00000545464,;MACROD1,downstream_gene_variant,,ENST00000542105,;OTUB1,downstream_gene_variant,,ENST00000535140,;	846	56	22	SUCCESS
PAH	5053	.	GRCh37	12	103310947	103310947	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs779160321	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	56	0	ENST00000553106.1:c.-39G>T		p.*13*	ENST00000553106	NM_000277.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9092.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCCTCAG	NONE	byFrequency	.	.	.	.	ENSP00000448059	.	1/13	.	.	.	.	.	.	.	.	rs779160321	1/13	PASS	ENST00000553106	Transcript	.	.	ENSG00000171759	8582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PH4H_HUMAN	PAH	HGNC	F8W1D4_HUMAN,F8W0A0_HUMAN	.	UPI00001318A0	SNV	PAH,5_prime_UTR_variant,,ENST00000551337,;PAH,5_prime_UTR_variant,,ENST00000553106,;PAH,5_prime_UTR_variant,,ENST00000546844,;PAH,5_prime_UTR_variant,,ENST00000307000,;PAH,non_coding_transcript_exon_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000547319,;PAH,downstream_gene_variant,,ENST00000546708,;PAH,upstream_gene_variant,,ENST00000548677,;PAH,upstream_gene_variant,,ENST00000548928,;PAH,non_coding_transcript_exon_variant,,ENST00000549111,;PAH,upstream_gene_variant,,ENST00000550978,;	435	56	60	SUCCESS
TAS2R13	50838	.	GRCh37	12	11061798	11061798	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1265929978	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	67	0	ENST00000390677.2:c.100G>T	p.Asp34Tyr	p.D34Y	ENST00000390677	NM_023920.2	34	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8635.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCAATGC	NONE	.	.	hmmpanther:PTHR11394:SF28,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000375095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390677	Transcript	.	.	ENSG00000212128	14919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.03)	.	T2R13_HUMAN	TAS2R13	HGNC	Q50KQ5_HUMAN	.	UPI0000038B15	SNV	TAS2R13,missense_variant,p.Asp34Tyr,ENST00000390677,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000546317,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;	364	67	68	SUCCESS
PEBP1	5037	.	GRCh37	12	118577335	118577335	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	72	0	ENST00000261313.2:c.325T>A	p.Ser109Thr	p.S109T	ENST00000261313	NM_002567.2	109	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS9187.1	325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTCGGGG	NONE	.	.	Superfamily_domains:SSF49777,Gene3D:3.90.280.10,Pfam_domain:PF01161,hmmpanther:PTHR11362:SF8,hmmpanther:PTHR11362	.	.	ENSP00000261313	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000261313	Transcript	.	.	ENSG00000089220	8630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0)	.	PEBP1_HUMAN	PEBP1	HGNC	D9IAI1_HUMAN	.	UPI00000015F1	SNV	PEBP1,missense_variant,p.Ser109Thr,ENST00000261313,;PEBP1,non_coding_transcript_exon_variant,,ENST00000542939,;VSIG10,upstream_gene_variant,,ENST00000542011,;VSIG10,upstream_gene_variant,,ENST00000539956,;	677	72	63	SUCCESS
KDM2B	84678	.	GRCh37	12	121880429	121880429	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	40	0	ENST00000377071.4:c.2815C>T	p.Arg939Trp	p.R939W	ENST00000377071	NM_032590.4	939	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS41850.1	2815	MUTECT|MUSE	.	CCGCCGCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23123:SF10,hmmpanther:PTHR23123	.	.	ENSP00000366271	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000377071	Transcript	.	.	ENSG00000089094	13610	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.732)	.	deleterious_low_confidence(0)	.	KDM2B_HUMAN	KDM2B	HGNC	F5H7T7_HUMAN,F5H6N6_HUMAN,F5H4A7_HUMAN,F5GXC2_HUMAN	.	UPI000006F36E	SNV	KDM2B,missense_variant,p.Arg307Trp,ENST00000542973,;KDM2B,missense_variant,p.Arg939Trp,ENST00000377071,;KDM2B,missense_variant,p.Arg870Trp,ENST00000377069,;KDM2B,intron_variant,,ENST00000536437,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;KDM2B,intron_variant,,ENST00000543025,;KDM2B,upstream_gene_variant,,ENST00000536036,;KDM2B,downstream_gene_variant,,ENST00000538243,;	2888	40	51	SUCCESS
KIAA1551	0	.	GRCh37	12	32134716	32134716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	61	0	ENST00000312561.4:c.827G>A	p.Arg276Lys	p.R276K	ENST00000312561	NM_018169.3	276	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS8725.2	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAGACCTC	NONE	.	.	hmmpanther:PTHR21604	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.11)	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,missense_variant,p.Arg276Lys,ENST00000312561,;KIAA1551,missense_variant,p.Arg276Lys,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;	1241	61	75	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43884211	43884211	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	188	445	0	ENST00000389420.3:c.1104A>C	p.Lys368Asn	p.K368N	ENST00000389420	NM_025003.3	368	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS31778.2	1104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACATTTCTC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000374071	.	7/39	.	.	.	.	.	.	.	.	.	7/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	deleterious(0)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Lys368Asn,ENST00000553158,;ADAMTS20,missense_variant,p.Lys368Asn,ENST00000389420,;	1104	445	425	SUCCESS
KMT2D	8085	.	GRCh37	12	49433090	49433090	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	46	65	0	ENST00000301067.7:c.8281C>T	p.Leu2761=	p.L2761=	ENST00000301067	NM_003482.3	2761	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44873.1	8281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGATGG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	33/54	.	.	.	.	.	.	.	.	.	33/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000550356,;	8281	65	92	SUCCESS
KRT82	3888	.	GRCh37	12	52800077	52800077	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	18	25	0	ENST00000257974.2:c.-16G>T		p.*6*	ENST00000257974	NM_033033.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8826.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCAGAGA	NONE	.	.	.	.	.	ENSP00000257974	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000257974	Transcript	.	.	ENSG00000161850	6459	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT82_HUMAN	KRT82	HGNC	.	.	UPI000013CFA4	SNV	KRT82,5_prime_UTR_variant,,ENST00000257974,;RP11-1020M18.10,upstream_gene_variant,,ENST00000548135,;RP3-416H24.4,downstream_gene_variant,,ENST00000547174,;	63	25	32	SUCCESS
KRT72	140807	.	GRCh37	12	52979915	52979915	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	53	0	ENST00000293745.2:c.1387T>C	p.Phe463Leu	p.F463L	ENST00000293745	NM_080747.2	463	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS8833.1	1387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAGCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239	.	.	ENSP00000293745	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000293745	Transcript	.	.	ENSG00000170486	28932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated_low_confidence(0.44)	.	K2C72_HUMAN	KRT72	HGNC	B4DXK4_HUMAN	.	UPI0000055AC8	SNV	KRT72,missense_variant,p.Phe463Leu,ENST00000537672,;KRT72,missense_variant,p.Phe275Leu,ENST00000398066,;KRT72,missense_variant,p.Phe463Leu,ENST00000293745,;KRT72,missense_variant,p.Phe421Leu,ENST00000354310,;KRT72,3_prime_UTR_variant,,ENST00000550829,;	1473	53	56	SUCCESS
CNOT2	4848	.	GRCh37	12	70724084	70724084	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	92	0	ENST00000229195.3:c.404A>G	p.Asn135Ser	p.N135S	ENST00000229195	NM_014515.5	135	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31857.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAATCCTA	NONE	.	.	hmmpanther:PTHR23326	.	.	ENSP00000229195	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000229195	Transcript	.	.	ENSG00000111596	7878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.31)	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,missense_variant,p.Asn135Ser,ENST00000551043,;CNOT2,missense_variant,p.Asn135Ser,ENST00000552231,;CNOT2,missense_variant,p.Asn135Ser,ENST00000229195,;CNOT2,missense_variant,p.Asn135Ser,ENST00000550194,;CNOT2,missense_variant,p.Asn50Ser,ENST00000551873,;CNOT2,missense_variant,p.Asn135Ser,ENST00000418359,;CNOT2,missense_variant,p.Asn115Ser,ENST00000550641,;CNOT2,missense_variant,p.Asn126Ser,ENST00000548159,;CNOT2,missense_variant,p.Asn135Ser,ENST00000549750,;CNOT2,intron_variant,,ENST00000552483,;CNOT2,intron_variant,,ENST00000550160,;CNOT2,intron_variant,,ENST00000552915,;CNOT2,downstream_gene_variant,,ENST00000551132,;CNOT2,upstream_gene_variant,,ENST00000551483,;CNOT2,upstream_gene_variant,,ENST00000550155,;CNOT2,non_coding_transcript_exon_variant,,ENST00000547149,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548230,;CNOT2,intron_variant,,ENST00000549443,;CNOT2,3_prime_UTR_variant,,ENST00000552319,;CNOT2,non_coding_transcript_exon_variant,,ENST00000552151,;CNOT2,intron_variant,,ENST00000548599,;CNOT2,intron_variant,,ENST00000548021,;CNOT2,intron_variant,,ENST00000548863,;CNOT2,downstream_gene_variant,,ENST00000547321,;	983	92	84	SUCCESS
CEP290	80184	.	GRCh37	12	88522769	88522769	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1017259177	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	23	0	ENST00000552810.1:c.896A>G	p.Asp299Gly	p.D299G	ENST00000552810	NM_025114.3	299	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS55858.1	896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCATCTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879	.	.	ENSP00000448012	.	11/54	.	.	.	.	.	.	.	.	.	11/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Asp21Gly,ENST00000604024,;CEP290,missense_variant,p.Asp299Gly,ENST00000552810,;CEP290,missense_variant,p.Asp299Gly,ENST00000309041,;CEP290,5_prime_UTR_variant,,ENST00000397838,;CEP290,downstream_gene_variant,,ENST00000550962,;CEP290,missense_variant,p.Asp265Gly,ENST00000547926,;	1240	23	36	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102453099	102453099	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs749426107	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	28	45	0	ENST00000360184.4:c.2537A>G	p.Lys846Arg	p.K846R	ENST00000360184	NM_001376.4	846	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9966.1	2537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAGGTAT	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	8/78	.	.	.	.	.	.	.	.	rs749426107	8/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Lys846Arg,ENST00000360184,;	2701	45	37	SUCCESS
PSMC6	5706	.	GRCh37	14	53185036	53185036	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	47	112	0	ENST00000606149.1:c.681A>G	p.Pro227=	p.P227=	ENST00000606149	NM_002806.3	227	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9710.2	723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCATGCAT	NONE	.	.	hmmpanther:PTHR23073:SF24,hmmpanther:PTHR23073,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000401802	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000445930	Transcript	.	.	ENSG00000100519	9553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PSMC6	HGNC	.	.	UPI00001FD556	SNV	PSMC6,synonymous_variant,p.%3D,ENST00000556813,;PSMC6,synonymous_variant,p.%3D,ENST00000606149,;PSMC6,synonymous_variant,p.%3D,ENST00000555339,;PSMC6,synonymous_variant,p.%3D,ENST00000445930,;PSMC6,upstream_gene_variant,,ENST00000557557,;PSMC6,synonymous_variant,p.%3D,ENST00000555175,;PSMC6,3_prime_UTR_variant,,ENST00000554044,;PSMC6,non_coding_transcript_exon_variant,,ENST00000458604,;PSMC6,downstream_gene_variant,,ENST00000553899,;PSMC6,downstream_gene_variant,,ENST00000557085,;PSMC6,upstream_gene_variant,,ENST00000551328,;PSMC6,downstream_gene_variant,,ENST00000557240,;	729	112	103	SUCCESS
GABRG3	2567	.	GRCh37	15	27216601	27216601	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	25	0	ENST00000333743.6:c.-82G>A		p.*28*	ENST00000333743	NM_033223.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45195.1	.	MUTECT|MUSE	.	AAGAGGGCCGG	NONE	.	.	.	.	.	ENSP00000331912	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,5_prime_UTR_variant,,ENST00000555083,;GABRG3,5_prime_UTR_variant,,ENST00000333743,;GABRG3,non_coding_transcript_exon_variant,,ENST00000553440,;TVP23BP1,downstream_gene_variant,,ENST00000557500,;	173	25	48	SUCCESS
POLR2M	81488	.	GRCh37	15	58000999	58000999	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	67	188	0	ENST00000299638.3:c.201A>C	p.Glu67Asp	p.E67D	ENST00000299638	NM_015532.3	67	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS32252.1	201	RADIA|MUTECT|MUSE	.	GAAGAAGTTAG	NONE	.	.	hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF5,Pfam_domain:PF15328	.	.	ENSP00000299638	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000299638	Transcript	.	.	ENSG00000255529	14862	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.117)	.	tolerated(0.11)	.	GRL1A_HUMAN	POLR2M	HGNC	E9PP13_HUMAN	.	UPI000000D78C	SNV	POLR2M,missense_variant,p.Glu67Asp,ENST00000299638,;GCOM1,missense_variant,p.Glu464Asp,ENST00000587652,;POLR2M,missense_variant,p.Glu67Asp,ENST00000380563,;GCOM1,intron_variant,,ENST00000380568,;POLR2M,intron_variant,,ENST00000380557,;GCOM1,intron_variant,,ENST00000380569,;GCOM1,downstream_gene_variant,,ENST00000380561,;POLR2M,non_coding_transcript_exon_variant,,ENST00000464308,;POLR2M,non_coding_transcript_exon_variant,,ENST00000567643,;GCOM1,intron_variant,,ENST00000484300,;POLR2M,missense_variant,p.Glu67Asp,ENST00000482852,;POLR2M,3_prime_UTR_variant,,ENST00000494490,;GCOM1,3_prime_UTR_variant,,ENST00000460962,;POLR2M,3_prime_UTR_variant,,ENST00000464277,;GCOM1,intron_variant,,ENST00000463717,;GCOM1,intron_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000477282,;GCOM1,intron_variant,,ENST00000482814,;GCOM1,downstream_gene_variant,,ENST00000468886,;GCOM1,downstream_gene_variant,,ENST00000488175,;GCOM1,downstream_gene_variant,,ENST00000496101,;GCOM1,downstream_gene_variant,,ENST00000471563,;	415	188	168	SUCCESS
MYH11	4629	.	GRCh37	16	15797859	15797859	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	45	106	0	ENST00000300036.5:c.5908G>T	p.Ala1970Ser	p.A1970S	ENST00000300036	NM_002474.2	1970	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS45423.1	5929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCCTTGG	NONE	.	.	.	.	.	ENSP00000379616	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,missense_variant,p.Ala1970Ser,ENST00000300036,;MYH11,missense_variant,p.Ala1977Ser,ENST00000396324,;MYH11,3_prime_UTR_variant,,ENST00000576790,;MYH11,3_prime_UTR_variant,,ENST00000452625,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,intron_variant,,ENST00000396355,;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000396354,;NDE1,downstream_gene_variant,,ENST00000574109,;NDE1,downstream_gene_variant,,ENST00000396353,;NDE1,downstream_gene_variant,,ENST00000576502,;MYH11,non_coding_transcript_exon_variant,,ENST00000573908,;	6017	106	121	SUCCESS
ZNF785	146540	.	GRCh37	16	30594587	30594587	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	79	0	ENST00000395216.2:c.512C>T	p.Pro171Leu	p.P171L	ENST00000395216	NM_152458.6	171	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10685.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGGCAGT	NONE	.	.	hmmpanther:PTHR24375:SF130,hmmpanther:PTHR24375,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000378642	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000395216	Transcript	.	.	ENSG00000197162	26496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	ZN785_HUMAN	ZNF785	HGNC	.	.	UPI0000074535	SNV	ZNF785,missense_variant,p.Pro156Leu,ENST00000470110,;ZNF785,missense_variant,p.Pro171Leu,ENST00000395216,;ZNF785,3_prime_UTR_variant,,ENST00000567773,;AC002310.7,non_coding_transcript_exon_variant,,ENST00000492040,;RP11-146F11.5,upstream_gene_variant,,ENST00000563540,;AC002310.7,downstream_gene_variant,,ENST00000486926,;ZNF785,upstream_gene_variant,,ENST00000562128,;AC002310.17,downstream_gene_variant,,ENST00000564755,;	672	79	69	SUCCESS
COG8	84342	.	GRCh37	16	69364961	69364961	+	synonymous_variant	Silent	SNP	T	T	C	rs189199610	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	98	0	ENST00000306875.4:c.1620A>G	p.Leu540=	p.L540=	ENST00000306875	NM_032382.4	540	ctA/ctG	0	.	G:0	.	G:0	.	C	L	protein_coding	YES	CCDS10876.1	1620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTAGGTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21311,hmmpanther:PTHR21311:SF0,PIRSF_domain:PIRSF015415	G:0.0129	.	ENSP00000305459	G:0	5/6	.	.	.	.	.	.	.	.	rs189199610	5/6	PASS	ENST00000306875	Transcript	.	G:0.0026	ENSG00000213380	18623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	COG8_HUMAN	COG8	HGNC	J3QRV3_HUMAN,B4DYU2_HUMAN	.	UPI000013EBA1	SNV	COG8,synonymous_variant,p.%3D,ENST00000306875,;RP11-343C2.12,intron_variant,,ENST00000562949,;COG8,intron_variant,,ENST00000562595,;COG8,downstream_gene_variant,,ENST00000567493,;RP11-343C2.9,downstream_gene_variant,,ENST00000563634,;PDF,upstream_gene_variant,,ENST00000288022,;COG8,downstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000564419,;RP11-343C2.7,downstream_gene_variant,,ENST00000570293,;RP11-343C2.7,downstream_gene_variant,,ENST00000564737,;	1735	98	64	SUCCESS
DHX38	9785	.	GRCh37	16	72141647	72141647	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	49	1	ENST00000268482.3:c.2913C>A	p.Ile971=	p.I971=	ENST00000268482	NM_014003.3	971	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10907.1	2913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCCTGCT	NONE	.	.	hmmpanther:PTHR18934:SF91,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	.	.	ENSP00000268482	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000268482	Transcript	.	.	ENSG00000140829	17211	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP16_HUMAN	DHX38	HGNC	H3BV01_HUMAN,H3BQT9_HUMAN,B4DN69_HUMAN,B4DM30_HUMAN	.	UPI000002FBFE	SNV	DHX38,synonymous_variant,p.%3D,ENST00000536867,;DHX38,synonymous_variant,p.%3D,ENST00000268482,;DHX38,intron_variant,,ENST00000562774,;DHX38,upstream_gene_variant,,ENST00000567142,;PMFBP1,downstream_gene_variant,,ENST00000537792,;DHX38,upstream_gene_variant,,ENST00000563819,;DHX38,3_prime_UTR_variant,,ENST00000579387,;DHX38,upstream_gene_variant,,ENST00000569952,;DHX38,downstream_gene_variant,,ENST00000566329,;DHX38,downstream_gene_variant,,ENST00000569935,;DHX38,upstream_gene_variant,,ENST00000567552,;DHX38,upstream_gene_variant,,ENST00000564622,;	3422	50	58	SUCCESS
ADAD2	161931	.	GRCh37	16	84227641	84227641	+	intron_variant	Intron	SNP	G	G	A	rs1158518611	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	75	151	0	ENST00000315906.5:c.419-407G>A		p.*140*	ENST00000315906	NM_001145400.1	150		0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10944.1	448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGAGAG	NONE	.	.	hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910	.	.	ENSP00000268624	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.29)	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,missense_variant,p.Gly150Arg,ENST00000268624,;ADAD2,intron_variant,,ENST00000315906,;ADAD2,intron_variant,,ENST00000567685,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,downstream_gene_variant,,ENST00000569834,;RP11-486L19.2,downstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,upstream_gene_variant,,ENST00000569221,;ADAD2,upstream_gene_variant,,ENST00000564169,;	541	151	156	SUCCESS
ATP2C2	9914	.	GRCh37	16	84402321	84402321	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	105	245	0	ENST00000262429.4:c.99+1G>A		p.X33_splice	ENST00000262429	NM_014861.2	33		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42207.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGTGAGT	NONE	.	.	.	.	.	ENSP00000262429	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262429	Transcript	.	.	ENSG00000064270	29103	.	.	HIGH	1/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2C2_HUMAN	ATP2C2	HGNC	.	.	UPI0000252110	SNV	ATP2C2,splice_donor_variant,,ENST00000262429,;ATP2C2,splice_donor_variant,,ENST00000416219,;	.	245	238	SUCCESS
CCDC144A	9720	.	GRCh37	17	16676815	16676815	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	89	225	0	ENST00000360524.8:c.4256T>C	p.Leu1419Pro	p.L1419P	ENST00000360524	NM_014695.1	1419	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS45621.1	4256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTACTAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF0	.	.	ENSP00000439262	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,missense_variant,p.Leu1419Pro,ENST00000360524,;CCDC144A,missense_variant,p.Leu1419Pro,ENST00000443444,;CCDC144A,synonymous_variant,p.%3D,ENST00000399273,;RP11-219A15.1,synonymous_variant,p.%3D,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;	4396	225	114	SUCCESS
KCNJ12	3768	.	GRCh37	17	21319861	21319861	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782577366	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	40	0	ENST00000331718.5:c.1207G>A	p.Gly403Ser	p.G403S	ENST00000331718	NM_001194958.2	403	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11219.1	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGGCCTC	BUFFER|p.S405I|c.1214G>T|4	byFrequency	.	PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	rs782577366	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.77)	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,missense_variant,p.Gly403Ser,ENST00000331718,;KCNJ12,missense_variant,p.Gly403Ser,ENST00000583088,;	2102	40	42	SUCCESS
NOS2	4843	.	GRCh37	17	26116637	26116637	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141421929	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	46	0	ENST00000313735.6:c.188C>T	p.Thr63Met	p.T63M	ENST00000313735	NM_000625.4	63	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS11223.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGTCTCC	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF000333	.	A:0.0007	ENSP00000327251	.	3/27	.	.	.	.	.	.	.	.	rs141421929	3/27	PASS	ENST00000313735	Transcript	.	.	ENSG00000007171	7873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.15)	.	NOS2_HUMAN	NOS2	HGNC	Q9UM94_HUMAN	.	UPI000011D645	SNV	NOS2,missense_variant,p.Thr63Met,ENST00000313735,;	422	46	65	SUCCESS
TMEM132E	124842	.	GRCh37	17	32955721	32955721	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	60	0	ENST00000321639.5:c.868C>A	p.Pro290Thr	p.P290T	ENST00000321639	NM_207313.1	290	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS11283.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCCCCCC	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.42)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Pro290Thr,ENST00000321639,;	1196	60	51	SUCCESS
KRT9	3857	.	GRCh37	17	39727697	39727697	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	39	74	0	ENST00000246662.4:c.548A>T	p.Asn183Ile	p.N183I	ENST00000246662	NM_000226.3	183	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS32654.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTATTCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000246662	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000246662	Transcript	.	.	ENSG00000171403	6447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.644)	.	tolerated(0.49)	.	K1C9_HUMAN	KRT9	HGNC	K7EQQ3_HUMAN	.	UPI00001AE6F7	SNV	KRT9,missense_variant,p.Asn183Ile,ENST00000246662,;KRT9,5_prime_UTR_variant,,ENST00000588431,;	614	74	141	SUCCESS
ABCA9	10350	.	GRCh37	17	67013796	67013796	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	16	101	0	ENST00000340001.4:c.2901+1G>C		p.X967_splice	ENST00000340001	NM_080283.3	967		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11681.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATACCTTTT	NONE	.	.	.	.	.	ENSP00000342216	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	HIGH	21/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,splice_donor_variant,,ENST00000370732,;ABCA9,splice_donor_variant,,ENST00000453985,;ABCA9,splice_donor_variant,,ENST00000340001,;ABCA9-AS1,intron_variant,,ENST00000458677,;ABCA9,splice_donor_variant,,ENST00000492580,;	.	101	120	SUCCESS
SDK2	54549	.	GRCh37	17	71412072	71412072	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	66	0	ENST00000392650.3:c.2246T>C	p.Val749Ala	p.V749A	ENST00000392650	NM_001144952.1	749	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS45769.1	2246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCACATCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376421	.	17/45	.	.	.	.	.	.	.	.	.	17/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	tolerated(0.09)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Val749Ala,ENST00000388726,;SDK2,missense_variant,p.Val749Ala,ENST00000392650,;SDK2,upstream_gene_variant,,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	2247	66	94	SUCCESS
SLC25A10	1468	.	GRCh37	17	79682596	79682596	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	98	89	1	ENST00000350690.5:c.302A>T	p.Glu101Val	p.E101V	ENST00000350690	NM_012140.4	101	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS59301.1	302	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCACGAGAAGG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF39,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000328403	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000331531	Transcript	.	.	ENSG00000183048	10980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	tolerated(0.08)	.	DIC_HUMAN	SLC25A10	HGNC	.	.	UPI000002A7E9	SNV	SLC25A10,missense_variant,p.Glu101Val,ENST00000350690,;SLC25A10,missense_variant,p.Glu256Val,ENST00000541223,;SLC25A10,missense_variant,p.Glu101Val,ENST00000331531,;SLC25A10,missense_variant,p.Glu256Val,ENST00000571730,;SLC25A10,missense_variant,p.Glu58Val,ENST00000545862,;SLC25A10,missense_variant,p.Glu68Val,ENST00000574884,;SLC25A10,3_prime_UTR_variant,,ENST00000574129,;SLC25A10,non_coding_transcript_exon_variant,,ENST00000571876,;SLC25A10,upstream_gene_variant,,ENST00000573246,;SLC25A10,upstream_gene_variant,,ENST00000570310,;	422	90	143	SUCCESS
FASN	2194	.	GRCh37	17	80041199	80041199	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	39	66	0	ENST00000306749.2:c.5444A>C	p.Gln1815Pro	p.Q1815P	ENST00000306749	NM_004104.4	1815	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS11801.1	5444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCTGCACA	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.50.720,SMART_domains:SM00829	.	.	ENSP00000304592	.	32/43	.	.	.	.	.	.	.	.	.	32/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	tolerated(0.05)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Gln1815Pro,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5663	66	144	SUCCESS
THOC1	9984	.	GRCh37	18	224989	224989	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	44	120	0	ENST00000261600.6:c.1143A>G	p.Ile381Met	p.I381M	ENST00000261600	NM_005131.2	381	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS45820.1	1143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATATATG	NONE	.	.	hmmpanther:PTHR13265,hmmpanther:PTHR13265:SF0,Pfam_domain:PF11957	.	.	ENSP00000261600	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000261600	Transcript	.	.	ENSG00000079134	19070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	tolerated(0.12)	.	THOC1_HUMAN	THOC1	HGNC	.	.	UPI0000071782	SNV	THOC1,missense_variant,p.Ile381Met,ENST00000261600,;THOC1,missense_variant,p.Ile112Met,ENST00000579891,;THOC1,3_prime_UTR_variant,,ENST00000580038,;THOC1,non_coding_transcript_exon_variant,,ENST00000583228,;THOC1,non_coding_transcript_exon_variant,,ENST00000578529,;THOC1,non_coding_transcript_exon_variant,,ENST00000577552,;THOC1,non_coding_transcript_exon_variant,,ENST00000579232,;THOC1,non_coding_transcript_exon_variant,,ENST00000584470,;	1151	120	56	SUCCESS
PALM3	342979	.	GRCh37	19	14165531	14165531	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1233848679	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	37	0	ENST00000340790.4:c.908C>T	p.Ser303Leu	p.S303L	ENST00000340790	NM_001145028.1	303	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS46001.1	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGAGCTA	NONE	.	.	hmmpanther:PTHR10498:SF6,hmmpanther:PTHR10498	.	.	ENSP00000344996	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000340790	Transcript	.	.	ENSG00000187867	33274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.15)	.	PALM3_HUMAN	PALM3	HGNC	K7EKN5_HUMAN	.	UPI0001662AC1	SNV	PALM3,missense_variant,p.Ser303Leu,ENST00000340790,;IL27RA,downstream_gene_variant,,ENST00000263379,;PALM3,downstream_gene_variant,,ENST00000589048,;PALM3,downstream_gene_variant,,ENST00000586368,;	908	37	40	SUCCESS
SLC35E1	79939	.	GRCh37	19	16683112	16683112	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	23	32	0	ENST00000595753.1:c.64G>A	p.Gly22Ser	p.G22S	ENST00000595753	NM_024881.4	22	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12346.2	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCACTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000470652	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000595753	Transcript	.	.	ENSG00000127526	20803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	S35E1_HUMAN	SLC35E1	HGNC	.	.	UPI000004D338	SNV	SLC35E1,missense_variant,p.Gly2Ser,ENST00000436553,;SLC35E1,missense_variant,p.Gly22Ser,ENST00000595753,;MED26,downstream_gene_variant,,ENST00000263390,;SLC35E1,upstream_gene_variant,,ENST00000431408,;CTD-3222D19.2,intron_variant,,ENST00000409035,;SLC35E1,upstream_gene_variant,,ENST00000409648,;MED26,downstream_gene_variant,,ENST00000597244,;SLC35E1,upstream_gene_variant,,ENST00000488894,;	82	32	41	SUCCESS
JAK3	3718	.	GRCh37	19	17945987	17945987	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1465717926	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	64	0	ENST00000458235.1:c.1952G>A	p.Arg651Gln	p.R651Q	ENST00000458235	NM_000215.3	651	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12366.1	1952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCGGGCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000391676	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	deleterious(0)	.	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Arg651Gln,ENST00000458235,;JAK3,missense_variant,p.Arg651Gln,ENST00000534444,;JAK3,missense_variant,p.Arg651Gln,ENST00000527670,;JAK3,downstream_gene_variant,,ENST00000526008,;JAK3,intron_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528705,;	2052	64	84	SUCCESS
CELF5	60680	.	GRCh37	19	3281279	3281279	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755859611	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	11	28	0	ENST00000292672.2:c.686A>G	p.Gln229Arg	p.Q229R	ENST00000292672	NM_021938.3	229	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS12106.1	686	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGGCCAGCTGG	NONE	.	.	hmmpanther:PTHR24622	.	.	ENSP00000292672	.	6/13	.	.	.	.	.	.	.	.	rs755859611	6/13	PASS	ENST00000292672	Transcript	.	.	ENSG00000161082	14058	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.106)	.	deleterious(0.04)	.	CELF5_HUMAN	CELF5	HGNC	.	.	UPI00000705EC	SNV	CELF5,missense_variant,p.Gln229Arg,ENST00000541430,;CELF5,missense_variant,p.Gln229Arg,ENST00000292672,;CELF5,non_coding_transcript_exon_variant,,ENST00000589370,;CELF5,intron_variant,,ENST00000586050,;CELF5,upstream_gene_variant,,ENST00000588101,;CELF5,missense_variant,p.Gln115Arg,ENST00000334293,;CELF5,missense_variant,p.Gln90Arg,ENST00000588350,;CELF5,upstream_gene_variant,,ENST00000591483,;	723	28	14	SUCCESS
MEGF8	1954	.	GRCh37	19	42853808	42853808	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	53	0	ENST00000251268.6:c.2456A>G	p.Glu819Gly	p.E819G	ENST00000251268		819	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS12604.2	2255	RADIA|MUTECT|MUSE	.	CAGCGAGCTAA	NONE	.	.	.	.	.	ENSP00000334219	.	13/41	.	.	.	.	.	.	.	.	.	13/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.149)	.	deleterious(0.01)	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Glu752Gly,ENST00000334370,;MEGF8,missense_variant,p.Glu819Gly,ENST00000251268,;MEGF8,upstream_gene_variant,,ENST00000593840,;	2890	53	50	SUCCESS
NOSIP	51070	.	GRCh37	19	50060189	50060189	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	88	0	ENST00000596358.1:c.480C>T	p.Pro160=	p.P160=	ENST00000596358	NM_001270960.1	160	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12772.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGGGCAG	NONE	.	.	hmmpanther:PTHR13063:SF10,hmmpanther:PTHR13063,PIRSF_domain:PIRSF023577	.	.	ENSP00000375726	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000391853	Transcript	.	.	ENSG00000142546	17946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOSIP_HUMAN	NOSIP	HGNC	M0R3B2_HUMAN,M0QX85_HUMAN	.	UPI000006F7E8	SNV	NOSIP,synonymous_variant,p.%3D,ENST00000391853,;NOSIP,synonymous_variant,p.%3D,ENST00000596358,;NOSIP,synonymous_variant,p.%3D,ENST00000599537,;NOSIP,synonymous_variant,p.%3D,ENST00000339093,;NOSIP,intron_variant,,ENST00000598296,;NOSIP,downstream_gene_variant,,ENST00000598544,;NOSIP,synonymous_variant,p.%3D,ENST00000601015,;NOSIP,3_prime_UTR_variant,,ENST00000594932,;NOSIP,non_coding_transcript_exon_variant,,ENST00000601340,;NOSIP,non_coding_transcript_exon_variant,,ENST00000598550,;NOSIP,non_coding_transcript_exon_variant,,ENST00000598820,;NOSIP,non_coding_transcript_exon_variant,,ENST00000596477,;NOSIP,downstream_gene_variant,,ENST00000599425,;NOSIP,downstream_gene_variant,,ENST00000598839,;NOSIP,downstream_gene_variant,,ENST00000601107,;NOSIP,downstream_gene_variant,,ENST00000600019,;NOSIP,downstream_gene_variant,,ENST00000593345,;	632	88	97	SUCCESS
ZNF615	284370	.	GRCh37	19	52496449	52496449	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	39	130	1	ENST00000376716.5:c.1880A>G	p.Asn627Ser	p.N627S	ENST00000376716	NM_198480.3	627	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS59418.1	1913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATTGCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF167,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471549	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000594083	Transcript	.	.	ENSG00000197619	24740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(1)	.	ZN615_HUMAN	ZNF615	HGNC	.	.	UPI000022A99B	SNV	ZNF615,missense_variant,p.Asn632Ser,ENST00000391795,;ZNF615,missense_variant,p.Asn627Ser,ENST00000376716,;ZNF615,missense_variant,p.Asn627Ser,ENST00000602063,;ZNF615,missense_variant,p.Asn638Ser,ENST00000594083,;ZNF615,missense_variant,p.Asn638Ser,ENST00000598071,;ZNF615,downstream_gene_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000601178,;ZNF615,3_prime_UTR_variant,,ENST00000599177,;ZNF615,downstream_gene_variant,,ENST00000599115,;	2158	131	108	SUCCESS
ZNF415	55786	.	GRCh37	19	53612357	53612357	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	40	0	ENST00000500065.4:c.941G>T	p.Cys314Phe	p.C314F	ENST00000500065	NM_001136038.2	314	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS54313.1	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCATGAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	tolerated(0.49)	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,missense_variant,p.Cys301Phe,ENST00000440291,;ZNF415,missense_variant,p.Cys362Phe,ENST00000455735,;ZNF415,missense_variant,p.Cys362Phe,ENST00000448501,;ZNF415,missense_variant,p.Cys84Phe,ENST00000601493,;ZNF415,missense_variant,p.Cys314Phe,ENST00000500065,;ZNF415,missense_variant,p.Cys314Phe,ENST00000243643,;ZNF415,missense_variant,p.Cys326Phe,ENST00000421033,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	1275	40	37	SUCCESS
ZNF304	57343	.	GRCh37	19	57868571	57868571	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	64	133	0	ENST00000282286.5:c.1334G>T	p.Arg445Ile	p.R445I	ENST00000282286		445	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS12950.1	1334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAGATCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000375586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391705	Transcript	.	.	ENSG00000131845	13505	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	ZN304_HUMAN	ZNF304	HGNC	M0QZ59_HUMAN	.	UPI000013CAB8	SNV	ZNF304,missense_variant,p.Arg492Ile,ENST00000443917,;ZNF304,missense_variant,p.Arg445Ile,ENST00000282286,;ZNF304,missense_variant,p.Arg445Ile,ENST00000391705,;ZNF304,missense_variant,p.Arg403Ile,ENST00000598744,;	1618	133	157	SUCCESS
C3	718	.	GRCh37	19	6677908	6677908	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	50	0	ENST00000245907.6:c.4977T>C	p.Phe1659=	p.F1659=	ENST00000245907	NM_000064.2	1659	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS32883.1	4977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCAAAGAC	NONE	.	.	PROSITE_profiles:PS50189,Superfamily_domains:SSF50242	.	.	ENSP00000245907	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,synonymous_variant,p.%3D,ENST00000601008,;C3,synonymous_variant,p.%3D,ENST00000245907,;C3,3_prime_UTR_variant,,ENST00000602229,;C3,downstream_gene_variant,,ENST00000596548,;C3,non_coding_transcript_exon_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000601475,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;	5070	50	34	SUCCESS
MUC16	94025	.	GRCh37	19	9091765	9091765	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	60	125	0	ENST00000397910.4:c.50T>A	p.Leu17Ter	p.L17*	ENST00000397910	NM_024690.2	17	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS54212.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCAAGGAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Leu17Ter,ENST00000397910,;	254	125	80	SUCCESS
KIF1B	23095	.	GRCh37	1	10412743	10412743	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	25	65	0	ENST00000377086.1:c.4004C>T	p.Ser1335Phe	p.S1335F	ENST00000377086		1335	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS111.1	3866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCCCTAA	NONE	.	.	hmmpanther:PTHR24115:SF328,hmmpanther:PTHR24115,Pfam_domain:PF12473	.	.	ENSP00000263934	.	36/47	.	.	.	.	.	.	.	.	.	36/47	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,missense_variant,p.Ser1335Phe,ENST00000377081,;KIF1B,missense_variant,p.Ser1335Phe,ENST00000377086,;KIF1B,missense_variant,p.Ser1289Phe,ENST00000263934,;KIF1B,non_coding_transcript_exon_variant,,ENST00000465635,;KIF1B,non_coding_transcript_exon_variant,,ENST00000483340,;	4019	65	34	SUCCESS
MASP2	10747	.	GRCh37	1	11087077	11087077	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	87	184	0	ENST00000400897.3:c.1926T>G	p.Ser642Arg	p.S642R	ENST00000400897	NM_006610.3	642	agT/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS123.1	1926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCACTATC	NONE	.	.	Superfamily_domains:SSF50494,PIRSF_domain:PIRSF001155,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF10,PROSITE_profiles:PS50240	.	.	ENSP00000383690	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000400897	Transcript	.	.	ENSG00000009724	6902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.4)	.	MASP2_HUMAN	MASP2	HGNC	.	.	UPI0000161FB9	SNV	MASP2,missense_variant,p.Ser642Arg,ENST00000400897,;TARDBP,downstream_gene_variant,,ENST00000439080,;TARDBP,downstream_gene_variant,,ENST00000240185,;TARDBP,downstream_gene_variant,,ENST00000315091,;RP4-635E18.8,upstream_gene_variant,,ENST00000607145,;TARDBP,downstream_gene_variant,,ENST00000480464,;TARDBP,downstream_gene_variant,,ENST00000477447,;TARDBP,downstream_gene_variant,,ENST00000496840,;TARDBP,downstream_gene_variant,,ENST00000473869,;	1942	184	97	SUCCESS
HMGCS2	3158	.	GRCh37	1	120293471	120293471	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs587593961,rs768203495	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	87	0	ENST00000369406.3:c.1481G>T	p.Arg494Leu	p.R494L	ENST00000369406	NM_005518.3	494	cGa/cTa	0	.	T:0,T:0	.	T:0,T:0	.	A	R/L	protein_coding	YES	CCDS905.1	1481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCGCTCC	NONE	by1000G	.	hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF16,Pfam_domain:PF08540,TIGRFAM_domain:TIGR01833,Superfamily_domains:SSF53901	T:0,T:0	.	ENSP00000358414	T:0.001,T:0.001	9/10	.	.	.	.	.	.	.	.	rs587593961,rs768203495,COSM675020	9/10	PASS	ENST00000369406	Transcript	.	T:0.0002	ENSG00000134240	5008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,1	.	.	benign(0.36)	T:0,T:0	tolerated(0.05)	0,0,1	HMCS2_HUMAN	HMGCS2	HGNC	.	.	UPI000000DA7A	SNV	HMGCS2,missense_variant,p.Arg452Leu,ENST00000544913,;HMGCS2,missense_variant,p.Arg494Leu,ENST00000369406,;HMGCS2,downstream_gene_variant,,ENST00000476640,;HMGCS2,downstream_gene_variant,,ENST00000472375,;	1531	87	90	SUCCESS
SCNN1D	6339	.	GRCh37	1	1217532	1217532	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	98	187	0	ENST00000338555.2:c.-121-90G>A		p.*41*	ENST00000338555				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44037.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGCCCCA	NONE	.	.	.	.	.	ENSP00000368411	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379116	Transcript	.	.	ENSG00000162572	10601	.	.	MODIFIER	3/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCNN1D	HGNC	A6NNF7_HUMAN	.	UPI0001EF94B5	SNV	SCNN1D,5_prime_UTR_variant,,ENST00000325425,;SCNN1D,5_prime_UTR_variant,,ENST00000470022,;SCNN1D,intron_variant,,ENST00000338555,;SCNN1D,intron_variant,,ENST00000379116,;SCNN1D,upstream_gene_variant,,ENST00000379099,;SCNN1D,upstream_gene_variant,,ENST00000400928,;RP5-902P8.10,downstream_gene_variant,,ENST00000453732,;RP5-902P8.10,downstream_gene_variant,,ENST00000434139,;SCNN1D,upstream_gene_variant,,ENST00000467651,;SCNN1D,intron_variant,,ENST00000379101,;	.	187	218	SUCCESS
PAPPA2	60676	.	GRCh37	1	176563805	176563805	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	52	92	0	ENST00000367662.3:c.1065C>T	p.Ser355=	p.S355=	ENST00000367662	NM_020318.2	355	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41438.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGCCACAG	NONE	.	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325,Pfam_domain:PF13385,Gene3D:2.60.120.200,SMART_domains:SM00560,Superfamily_domains:SSF49899	.	.	ENSP00000356634	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,synonymous_variant,p.%3D,ENST00000367661,;PAPPA2,synonymous_variant,p.%3D,ENST00000367662,;	2229	92	109	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17975056	17975056	+	synonymous_variant	Silent	SNP	G	G	A	rs202159383	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	50	115	0	ENST00000361221.3:c.2280G>A	p.Glu760=	p.E760=	ENST00000361221	NM_018125.3	760	gaG/gaA	0	A:0.0005	A:0.0015	.	A:0	.	A	E	protein_coding	YES	CCDS182.1	2280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGAACCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	A:0	A:0	ENSP00000355060	A:0	22/29	.	.	.	.	.	.	.	.	rs202159383	22/29	PASS	ENST00000361221	Transcript	.	A:0.0004	ENSG00000074964	25540	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,synonymous_variant,p.%3D,ENST00000361221,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000375408,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000167825,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000375415,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000434513,;ARHGEF10L,synonymous_variant,p.%3D,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000466782,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	2439	115	62	SUCCESS
CACNA1E	777	.	GRCh37	1	181687238	181687238	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	30	0	ENST00000367573.2:c.1573C>A	p.Leu525Met	p.L525M	ENST00000367573	NM_001205293.1	525	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS55664.1	1573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCTGAAG	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000356545	.	12/48	.	.	.	.	.	.	.	.	.	12/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	tolerated(0.07)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Leu132Met,ENST00000367567,;CACNA1E,missense_variant,p.Leu525Met,ENST00000360108,;CACNA1E,missense_variant,p.Leu476Met,ENST00000358338,;CACNA1E,missense_variant,p.Leu476Met,ENST00000357570,;CACNA1E,missense_variant,p.Leu525Met,ENST00000526775,;CACNA1E,missense_variant,p.Leu525Met,ENST00000367570,;CACNA1E,missense_variant,p.Leu525Met,ENST00000367573,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	1573	30	33	SUCCESS
TRMT1L	81627	.	GRCh37	1	185113145	185113145	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	112	0	ENST00000367506.5:c.672A>T	p.Pro224=	p.P224=	ENST00000367506	NM_001202423.1	224	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1366.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGTGGTTT	NONE	.	.	hmmpanther:PTHR10631:SF1,hmmpanther:PTHR10631	.	.	ENSP00000356476	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000367506	Transcript	.	.	ENSG00000121486	16782	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRM1L_HUMAN	TRMT1L	HGNC	.	.	UPI000000DADB	SNV	TRMT1L,synonymous_variant,p.%3D,ENST00000367504,;TRMT1L,synonymous_variant,p.%3D,ENST00000367506,;TRMT1L,upstream_gene_variant,,ENST00000458395,;TRMT1L,non_coding_transcript_exon_variant,,ENST00000487028,;	941	112	116	SUCCESS
ZNF281	23528	.	GRCh37	1	200377908	200377908	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	34	58	0	ENST00000294740.3:c.926A>C	p.Lys309Thr	p.K309T	ENST00000294740	NM_001281293.1	309	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS1402.1	926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTTCTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF327,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000294740	.	2/2	.	.	.	.	.	.	.	.	COSM3418591	2/2	PASS	ENST00000294740	Transcript	.	.	ENSG00000162702	13075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	ZN281_HUMAN	ZNF281	HGNC	B3KMX4_HUMAN	.	UPI000013C345	SNV	ZNF281,missense_variant,p.Lys309Thr,ENST00000367353,;ZNF281,missense_variant,p.Lys273Thr,ENST00000367352,;ZNF281,missense_variant,p.Lys309Thr,ENST00000294740,;	1051	58	65	SUCCESS
LBR	3930	.	GRCh37	1	225605750	225605750	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs750192278	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	223	7	226	0	ENST00000272163.4:c.773T>G	p.Val258Gly	p.V258G	ENST00000272163	NM_002296.3	258	gTa/gGa	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS1545.1	773	MUTECT|MUSE	.	CAAATACTCTG	NONE	byFrequency	.	Pfam_domain:PF01222,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32,Transmembrane_helices:TMhelix	.	.	ENSP00000339883	.	6/14	.	.	.	.	.	.	.	.	rs750192278	6/14	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.744)	.	deleterious(0.01)	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	LBR,missense_variant,p.Val258Gly,ENST00000338179,;LBR,missense_variant,p.Val258Gly,ENST00000272163,;AC092811.1,downstream_gene_variant,,ENST00000366845,;LBR,downstream_gene_variant,,ENST00000425080,;LBR,non_coding_transcript_exon_variant,,ENST00000487054,;LBR,downstream_gene_variant,,ENST00000488632,;	899	227	230	SUCCESS
ITPKB	3707	.	GRCh37	1	226923497	226923497	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1386746066	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	50	0	ENST00000272117.3:c.1663C>A	p.Pro555Thr	p.P555T	ENST00000272117		555	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS1555.1	1663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGGCTTGT	NONE	.	.	hmmpanther:PTHR12400:SF4,hmmpanther:PTHR12400	.	.	ENSP00000411152	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.09)	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,missense_variant,p.Pro555Thr,ENST00000366784,;ITPKB,missense_variant,p.Pro555Thr,ENST00000272117,;ITPKB,missense_variant,p.Pro555Thr,ENST00000429204,;	1991	50	70	SUCCESS
RGS7	6000	.	GRCh37	1	241262053	241262053	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758148829	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	50	0	ENST00000366565.1:c.88G>A	p.Val30Ile	p.V30I	ENST00000366565	NM_002924.4	30	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31071.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGACGTCTT	NONE	.	.	Superfamily_domains:SSF46785,Gene3D:1.10.10.10,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26	.	.	ENSP00000355523	.	3/18	.	.	.	.	.	.	.	.	rs758148829,COSM400992	3/18	PASS	ENST00000366565	Transcript	.	.	ENSG00000182901	10003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.07)	.	tolerated(0.85)	0,1	RGS7_HUMAN	RGS7	HGNC	.	.	UPI000040E182	SNV	RGS7,missense_variant,p.Val4Ile,ENST00000331110,;RGS7,missense_variant,p.Val30Ile,ENST00000401882,;RGS7,missense_variant,p.Val30Ile,ENST00000366564,;RGS7,missense_variant,p.Val30Ile,ENST00000366565,;RGS7,missense_variant,p.Val30Ile,ENST00000366562,;RGS7,missense_variant,p.Val30Ile,ENST00000407727,;RGS7,missense_variant,p.Val30Ile,ENST00000366563,;RGS7,missense_variant,p.Val30Ile,ENST00000348120,;RGS7,5_prime_UTR_variant,,ENST00000446183,;	470	50	40	SUCCESS
RAVER2	55225	.	GRCh37	1	65243500	65243500	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	105	0	ENST00000294428.3:c.511T>A	p.Cys171Ser	p.C171S	ENST00000294428		171	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS41345.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATGTTTT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23189:SF6,hmmpanther:PTHR23189,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000360112	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000371072	Transcript	.	.	ENSG00000162437	25577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.09)	.	RAVR2_HUMAN	RAVER2	HGNC	.	.	UPI000043DED2	SNV	RAVER2,missense_variant,p.Cys171Ser,ENST00000294428,;RAVER2,missense_variant,p.Cys171Ser,ENST00000371072,;RAVER2,upstream_gene_variant,,ENST00000430964,;RAVER2,upstream_gene_variant,,ENST00000418058,;	589	105	110	SUCCESS
FOXA2	3170	.	GRCh37	20	22562785	22562785	+	synonymous_variant	Silent	SNP	C	C	A	rs1189848148	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	64	0	ENST00000377115.4:c.1077G>T	p.Pro359=	p.P359=	ENST00000377115	NM_153675.2	359	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46585.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF57,hmmpanther:PTHR11829	.	.	ENSP00000400341	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000419308	Transcript	.	.	ENSG00000125798	5022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXA2_HUMAN	FOXA2	HGNC	B0ZTD4_HUMAN	.	UPI000040F9A0	SNV	FOXA2,synonymous_variant,p.%3D,ENST00000419308,;FOXA2,synonymous_variant,p.%3D,ENST00000377115,;LINC00261,upstream_gene_variant,,ENST00000564492,;	1280	64	68	SUCCESS
TM9SF4	9777	.	GRCh37	20	30730791	30730791	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	45	100	1	ENST00000398022.2:c.535C>T	p.Leu179=	p.L179=	ENST00000398022	NM_014742.3	179	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13196.2	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCTGCAC	NONE	.	.	hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF34,Pfam_domain:PF02990	.	.	ENSP00000381104	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000398022	Transcript	.	.	ENSG00000101337	30797	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM9S4_HUMAN	TM9SF4	HGNC	B4DH88_HUMAN	.	UPI0000206163	SNV	TM9SF4,synonymous_variant,p.%3D,ENST00000398022,;TM9SF4,synonymous_variant,p.%3D,ENST00000217315,;TM9SF4,downstream_gene_variant,,ENST00000450829,;TM9SF4,downstream_gene_variant,,ENST00000417389,;TM9SF4,downstream_gene_variant,,ENST00000442842,;	770	101	95	SUCCESS
MYH7B	57644	.	GRCh37	20	33585321	33585321	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	43	0	ENST00000262873.7:c.3751G>T	p.Glu1251Ter	p.E1251*	ENST00000262873	NM_020884.3	1251	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42869.1	3751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGGAGCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Pfam_domain:PF01576	.	.	ENSP00000262873	.	30/43	.	.	.	.	.	.	.	.	.	30/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,stop_gained,p.Glu1251Ter,ENST00000262873,;TRPC4AP,downstream_gene_variant,,ENST00000451813,;MYH7B,upstream_gene_variant,,ENST00000453028,;TRPC4AP,downstream_gene_variant,,ENST00000252015,;MYH7B,upstream_gene_variant,,ENST00000456649,;MYH7B,upstream_gene_variant,,ENST00000446156,;MYH7B,upstream_gene_variant,,ENST00000433934,;MYH7B,upstream_gene_variant,,ENST00000435272,;	3843	43	37	SUCCESS
CTNNBL1	56259	.	GRCh37	20	36374896	36374896	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	47	0	ENST00000361383.6:c.353A>G	p.Asn118Ser	p.N118S	ENST00000361383	NM_030877.4	118	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS13298.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAATGACA	NONE	.	.	hmmpanther:PTHR14978:SF0,hmmpanther:PTHR14978,Pfam_domain:PF08216	.	.	ENSP00000355050	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000361383	Transcript	.	.	ENSG00000132792	15879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	CTBL1_HUMAN	CTNNBL1	HGNC	B4DE16_HUMAN,A2A2P1_HUMAN	.	UPI0000061E09	SNV	CTNNBL1,missense_variant,p.Asn91Ser,ENST00000405275,;CTNNBL1,missense_variant,p.Asn118Ser,ENST00000361383,;CTNNBL1,missense_variant,p.Asn91Ser,ENST00000447935,;CTNNBL1,5_prime_UTR_variant,,ENST00000373473,;CTNNBL1,upstream_gene_variant,,ENST00000473857,;	470	47	47	SUCCESS
ZNF335	63925	.	GRCh37	20	44592541	44592541	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	52	63	0	ENST00000322927.2:c.1191A>T	p.Pro397=	p.P397=	ENST00000322927	NM_022095.3	397	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13389.1	1191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTGGGCC	NONE	.	.	hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403	.	.	ENSP00000325326	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,synonymous_variant,p.%3D,ENST00000322927,;ZNF335,synonymous_variant,p.%3D,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000475002,;ZNF335,downstream_gene_variant,,ENST00000476822,;ZNF335,downstream_gene_variant,,ENST00000494955,;	1292	63	93	SUCCESS
SYCP2	10388	.	GRCh37	20	58489232	58489232	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761447870	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	51	135	0	ENST00000357552.3:c.709C>T	p.His237Tyr	p.H237Y	ENST00000357552		237	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS13482.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGTGCCA	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	11/45	.	.	.	.	.	.	.	.	rs761447870	11/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,missense_variant,p.His237Tyr,ENST00000446834,;SYCP2,missense_variant,p.His237Tyr,ENST00000357552,;SYCP2,missense_variant,p.His237Tyr,ENST00000371001,;SYCP2,non_coding_transcript_exon_variant,,ENST00000471331,;SYCP2,upstream_gene_variant,,ENST00000461538,;	935	135	174	SUCCESS
IGSF5	150084	.	GRCh37	21	41163986	41163986	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	151	396	0	ENST00000380588.4:c.1008T>A	p.Asn336Lys	p.N336K	ENST00000380588	NM_001080444.1	336	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS33562.1	1008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATGAAAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000369962	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000380588	Transcript	.	.	ENSG00000183067	5952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	tolerated(0.44)	.	IGSF5_HUMAN	IGSF5	HGNC	.	.	UPI0000198970	SNV	IGSF5,missense_variant,p.Asn336Lys,ENST00000380588,;IGSF5,downstream_gene_variant,,ENST00000479378,;IGSF5,non_coding_transcript_exon_variant,,ENST00000459922,;	1111	396	205	SUCCESS
LZTR1	8216	.	GRCh37	22	21348001	21348001	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs770933647	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	56	0	ENST00000215739.8:c.1311G>A	p.Trp437Ter	p.W437*	ENST00000215739	NM_006767.3	437	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS33606.1	1311	RADIA|MUTECT|MUSE	.	CTGTGGGAGAG	NONE	.	.	hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	.	.	ENSP00000215739	.	12/21	.	.	.	.	.	.	.	.	rs770933647	12/21	PASS	ENST00000215739	Transcript	.	.	ENSG00000099949	6742	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	SNV	LZTR1,stop_gained,p.Trp437Ter,ENST00000215739,;LZTR1,stop_gained,p.Trp418Ter,ENST00000389355,;LZTR1,upstream_gene_variant,,ENST00000415817,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,non_coding_transcript_exon_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000452988,;LZTR1,upstream_gene_variant,,ENST00000498649,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000463909,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1670	56	39	SUCCESS
CNOT11	55571	.	GRCh37	2	101883295	101883295	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	52	95	0	ENST00000289382.3:c.1192C>G	p.Leu398Val	p.L398V	ENST00000289382	NM_017546.4	398	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2050.1	1192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCTGGTC	NONE	.	.	Pfam_domain:PF10155,hmmpanther:PTHR15975	.	.	ENSP00000289382	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000289382	Transcript	.	.	ENSG00000158435	25217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CNO11_HUMAN	CNOT11	HGNC	B3KNB0_HUMAN	.	UPI00000715FD	SNV	CNOT11,missense_variant,p.Leu398Val,ENST00000289382,;CNOT11,missense_variant,p.Leu78Val,ENST00000420107,;RNF149,downstream_gene_variant,,ENST00000485752,;CNOT11,downstream_gene_variant,,ENST00000462489,;RNF149,downstream_gene_variant,,ENST00000424632,;	1355	95	119	SUCCESS
TTN	7273	.	GRCh37	2	179459324	179459324	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	67	131	1	ENST00000591111.1:c.52974T>C	p.Asn17658=	p.N17658=	ENST00000591111		17658	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS59435.1	57897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTATTTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	296/363	.	.	.	.	.	.	.	.	.	296/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589830,;	58122	132	131	SUCCESS
COL3A1	1281	.	GRCh37	2	189875435	189875435	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745656610	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	46	126	0	ENST00000304636.3:c.4073G>A	p.Arg1358Gln	p.R1358Q	ENST00000304636	NM_000090.3	1358	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS2297.1	4073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCGACTTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,SMART_domains:SM00038,Pfam_domain:PF01410,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415,PROSITE_profiles:PS51461	.	.	ENSP00000304408	.	50/51	.	.	.	.	.	.	.	.	rs745656610	50/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Arg1055Gln,ENST00000317840,;COL3A1,missense_variant,p.Arg1358Gln,ENST00000304636,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;	4243	126	134	SUCCESS
HSPD1	3329	.	GRCh37	2	198353917	198353917	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	161	304	0	ENST00000345042.2:c.1024T>G	p.Leu342Val	p.L342V	ENST00000345042	NM_199440.1	342	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS33357.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTAAGTCAT	NONE	.	.	HAMAP:MF_00600,hmmpanther:PTHR11353,Pfam_domain:PF00118,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02348,Superfamily_domains:SSF52029	.	.	ENSP00000373620	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000388968	Transcript	.	.	ENSG00000144381	5261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0)	.	CH60_HUMAN	HSPD1	HGNC	Q53SE2_HUMAN,Q53QD5_HUMAN,E7EXB4_HUMAN,C9JL19_HUMAN,C9JCQ4_HUMAN,C9J0S9_HUMAN	.	UPI0000042366	SNV	HSPD1,missense_variant,p.Leu342Val,ENST00000345042,;HSPD1,missense_variant,p.Leu342Val,ENST00000388968,;HSPD1,downstream_gene_variant,,ENST00000430176,;HSPD1,non_coding_transcript_exon_variant,,ENST00000491249,;HSPD1,downstream_gene_variant,,ENST00000486181,;HSPD1,downstream_gene_variant,,ENST00000482167,;	1292	304	388	SUCCESS
USP40	55230	.	GRCh37	2	234421111	234421111	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	30	100	0	ENST00000251722.6:c.2434+104C>G		p.*812*	ENST00000251722				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGTTTCC	NONE	.	.	.	.	.	ENSP00000415434	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODIFIER	18/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,5_prime_UTR_variant,,ENST00000409945,;USP40,intron_variant,,ENST00000251722,;USP40,intron_variant,,ENST00000427112,;USP40,intron_variant,,ENST00000450966,;USP40,upstream_gene_variant,,ENST00000430158,;USP40,intron_variant,,ENST00000483216,;	.	100	103	SUCCESS
CAD	790	.	GRCh37	2	27460591	27460591	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	35	71	1	ENST00000264705.4:c.4569A>T	p.Ala1523=	p.A1523=	ENST00000264705	NM_004341.3	1523	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1742.1	4569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCAGAGGC	NONE	.	.	hmmpanther:PTHR11405:SF5,hmmpanther:PTHR11405,Gene3D:3.20.20.140,Pfam_domain:PF13147,Superfamily_domains:SSF51556	.	.	ENSP00000264705	.	29/44	.	.	.	.	.	.	.	.	.	29/44	PASS	ENST00000264705	Transcript	.	.	ENSG00000084774	1424	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYR1_HUMAN	CAD	HGNC	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN	.	UPI000013D558	SNV	CAD,synonymous_variant,p.%3D,ENST00000458503,;CAD,synonymous_variant,p.%3D,ENST00000264705,;CAD,synonymous_variant,p.%3D,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000456311,;CAD,upstream_gene_variant,,ENST00000428460,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000479002,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,upstream_gene_variant,,ENST00000487239,;	4731	72	66	SUCCESS
EHD3	30845	.	GRCh37	2	31457421	31457421	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	21	0	ENST00000322054.5:c.-67C>A		p.*23*	ENST00000322054	NM_014600.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1774.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTACGGGAC	NONE	.	.	.	.	.	ENSP00000327116	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000322054	Transcript	.	.	ENSG00000013016	3244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHD3_HUMAN	EHD3	HGNC	.	.	UPI0000140D07	SNV	EHD3,5_prime_UTR_variant,,ENST00000322054,;EHD3,5_prime_UTR_variant,,ENST00000541626,;CAPN14,upstream_gene_variant,,ENST00000398824,;	219	21	31	SUCCESS
ABCG5	64240	.	GRCh37	2	44041655	44041655	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746277612	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	82	196	0	ENST00000260645.1:c.1723C>G	p.Leu575Val	p.L575V	ENST00000260645	NM_022436.2	575	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS1814.1	1723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGAATCT	NONE	.	.	hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF193,Pfam_domain:PF01061	.	.	ENSP00000260645	.	12/13	.	.	.	.	.	.	.	.	rs746277612	12/13	PASS	ENST00000260645	Transcript	.	.	ENSG00000138075	13886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	ABCG5_HUMAN	ABCG5	HGNC	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN	.	UPI0000046560	SNV	ABCG5,missense_variant,p.Leu404Val,ENST00000405322,;ABCG5,missense_variant,p.Leu180Val,ENST00000543989,;ABCG5,missense_variant,p.Leu575Val,ENST00000260645,;DYNC2LI1,downstream_gene_variant,,ENST00000443170,;DYNC2LI1,downstream_gene_variant,,ENST00000260605,;DYNC2LI1,downstream_gene_variant,,ENST00000605786,;ABCG5,3_prime_UTR_variant,,ENST00000486512,;ABCG5,3_prime_UTR_variant,,ENST00000409962,;	1863	196	200	SUCCESS
VRK2	7444	.	GRCh37	2	58386604	58386604	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201610023	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	68	166	0	ENST00000340157.4:c.1303G>C	p.Asp435His	p.D435H	ENST00000340157	NM_001130481.2	435	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS1859.1	1303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAGATTTT	NONE	byCluster	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100	.	.	ENSP00000408002	.	16/16	.	.	.	.	.	.	.	.	rs201610023	16/16	PASS	ENST00000435505	Transcript	.	.	ENSG00000028116	12719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious_low_confidence(0)	.	VRK2_HUMAN	VRK2	HGNC	.	.	UPI000013D498	SNV	VRK2,missense_variant,p.Asp435His,ENST00000340157,;VRK2,missense_variant,p.Asp412His,ENST00000440705,;VRK2,missense_variant,p.Asp435His,ENST00000435505,;FANCL,3_prime_UTR_variant,,ENST00000233741,;FANCL,3_prime_UTR_variant,,ENST00000403295,;FANCL,3_prime_UTR_variant,,ENST00000402135,;VRK2,3_prime_UTR_variant,,ENST00000417641,;VRK2,3_prime_UTR_variant,,ENST00000412104,;FANCL,downstream_gene_variant,,ENST00000427708,;FANCL,downstream_gene_variant,,ENST00000446381,;FANCL,downstream_gene_variant,,ENST00000449070,;FANCL,downstream_gene_variant,,ENST00000540646,;FANCL,downstream_gene_variant,,ENST00000403676,;FANCL,downstream_gene_variant,,ENST00000417361,;VRK2,3_prime_UTR_variant,,ENST00000432057,;FANCL,downstream_gene_variant,,ENST00000470506,;	2048	166	173	SUCCESS
USP34	9736	.	GRCh37	2	61538926	61538926	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	54	0	ENST00000398571.2:c.3662del	p.Pro1221LeufsTer4	p.P1221Lfs*4	ENST00000398571	NM_014709.3	1221	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS42686.1	3662	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTCAGGAAGT	NONE	.	.	.	.	.	ENSP00000381577	.	26/80	.	.	.	.	.	.	.	.	.	26/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	deletion	USP34,frameshift_variant,p.Pro1221LeufsTer4,ENST00000398571,;	3739	54	75	SUCCESS
POLQ	10721	.	GRCh37	3	121206681	121206681	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	83	0	ENST00000264233.5:c.5097T>C	p.Asn1699=	p.N1699=	ENST00000264233	NM_199420.3	1699	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS33833.1	5097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCATTATT	NONE	.	.	.	.	.	ENSP00000264233	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,synonymous_variant,p.%3D,ENST00000264233,;	5226	83	76	SUCCESS
MYLK	4638	.	GRCh37	3	123444795	123444795	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	194	461	0	ENST00000360304.3:c.1647G>T	p.Leu549=	p.L549=	ENST00000360304	NM_053025.3	549	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46896.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCAGCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000353452	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000360304	Transcript	.	.	ENSG00000065534	7590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYLK_HUMAN	MYLK	HGNC	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN	.	UPI000020A0AE	SNV	MYLK,synonymous_variant,p.%3D,ENST00000360304,;MYLK,synonymous_variant,p.%3D,ENST00000346322,;MYLK,synonymous_variant,p.%3D,ENST00000360772,;MYLK,synonymous_variant,p.%3D,ENST00000475616,;MYLK,synonymous_variant,p.%3D,ENST00000359169,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000514623,;	1929	461	427	SUCCESS
NCK1	4690	.	GRCh37	3	136664749	136664749	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs145545353	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	68	198	0	ENST00000288986.2:c.551A>G	p.Asn184Ser	p.N184S	ENST00000288986	NM_006153.4	184	aAt/aGt	0	G:0.0002	.	.	.	.	G	N/S	protein_coding	YES	CCDS3092.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCAATAACC	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF037874,Gene3D:2.30.30.40,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF11	.	G:0.0002	ENSP00000417273	.	3/4	.	.	.	.	.	.	.	.	rs145545353,COSM1495364	3/4	common_in_exac	ENST00000481752	Transcript	.	.	ENSG00000158092	7664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.88)	0,1	NCK1_HUMAN	NCK1	HGNC	C9K098_HUMAN,C9JVV5_HUMAN,C9J0K5_HUMAN	.	UPI000012FE3E	SNV	NCK1,missense_variant,p.Asn120Ser,ENST00000469404,;NCK1,missense_variant,p.Asn184Ser,ENST00000481752,;NCK1,missense_variant,p.Asn184Ser,ENST00000288986,;NCK1,intron_variant,,ENST00000467911,;NCK1,intron_variant,,ENST00000496489,;NCK1,intron_variant,,ENST00000488930,;NCK1,downstream_gene_variant,,ENST00000485096,;NCK1,downstream_gene_variant,,ENST00000491539,;IL20RB,upstream_gene_variant,,ENST00000484501,;NCK1,non_coding_transcript_exon_variant,,ENST00000482071,;	715	198	154	SUCCESS
PLSCR4	57088	.	GRCh37	3	145912237	145912237	+	synonymous_variant	Silent	SNP	G	G	A	rs771711885	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	68	0	ENST00000354952.2:c.951C>T	p.Phe317=	p.F317=	ENST00000354952	NM_020353.2	317	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS3133.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATGAAGTC	NONE	.	.	hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF28,Pfam_domain:PF03803	.	.	ENSP00000347038	.	9/9	.	.	.	.	.	.	.	.	rs771711885	9/9	PASS	ENST00000354952	Transcript	.	.	ENSG00000114698	16497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLS4_HUMAN	PLSCR4	HGNC	D3DNG6_HUMAN,C9J916_HUMAN,C9J6E1_HUMAN,C9J664_HUMAN,C9J3P9_HUMAN	.	UPI000004182E	SNV	PLSCR4,synonymous_variant,p.%3D,ENST00000433593,;PLSCR4,synonymous_variant,p.%3D,ENST00000354952,;PLSCR4,synonymous_variant,p.%3D,ENST00000446574,;PLSCR4,synonymous_variant,p.%3D,ENST00000383083,;PLSCR4,synonymous_variant,p.%3D,ENST00000493382,;PLSCR4,downstream_gene_variant,,ENST00000460350,;PLSCR4,downstream_gene_variant,,ENST00000460885,;PLSCR4,downstream_gene_variant,,ENST00000475019,;	1192	68	69	SUCCESS
FXR1	8087	.	GRCh37	3	180666182	180666182	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	9	112	0	ENST00000357559.4:c.318A>T	p.Ile106=	p.I106=	ENST00000357559	NM_001013438.2	106	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3238.1	318	RADIA|MUTECT|MUSE	.	GAAATAGTCAC	NONE	.	.	PROSITE_profiles:PS51641,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6,Pfam_domain:PF05641	.	.	ENSP00000350170	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000357559	Transcript	.	.	ENSG00000114416	4023	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FXR1_HUMAN	FXR1	HGNC	C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN	.	UPI000013EA6E	SNV	FXR1,synonymous_variant,p.%3D,ENST00000357559,;FXR1,synonymous_variant,p.%3D,ENST00000491062,;FXR1,synonymous_variant,p.%3D,ENST00000445140,;FXR1,synonymous_variant,p.%3D,ENST00000484042,;FXR1,synonymous_variant,p.%3D,ENST00000480918,;FXR1,synonymous_variant,p.%3D,ENST00000484958,;FXR1,synonymous_variant,p.%3D,ENST00000305586,;FXR1,synonymous_variant,p.%3D,ENST00000468861,;FXR1,synonymous_variant,p.%3D,ENST00000484790,;FXR1,synonymous_variant,p.%3D,ENST00000465551,;FXR1,synonymous_variant,p.%3D,ENST00000469882,;FXR1,non_coding_transcript_exon_variant,,ENST00000475315,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;FXR1,downstream_gene_variant,,ENST00000479176,;FXR1,upstream_gene_variant,,ENST00000473375,;	702	112	105	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266090	41266289	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAG	TTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAG	-	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	TTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAG	TTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	96	66	130	0	ENST00000349496.5:c.89_241+47del		p.X30_splice	ENST00000349496	NM_001904.3	30		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2694.1	87-?	PINDEL|VARSCANS*	.	ACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAGTTTTG	BUFFER|p.A5_A80del|c.14_241del228|3,BUFFER|p.A5_A80>D|c.14_241del228|7,BUFFER|p.A5_Q143del|c.14_430del417|5,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.W25_I140del|c.73_420del348|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.Q28_H134del|c.82_402del321|5,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41A|c.121A>G|828,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45P|c.133T>C|225,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3,BUFFER|p.K49R|c.146A>G|10,BUFFER|p.K49K|c.147A>G|3,BUFFER|p.G50D|c.149G>A|3,BUFFER|p.N51D|c.151A>G|4,BUFFER|p.E53K|c.157G>A|10,BUFFER|p.E55K|c.163G>A|5,BUFFER|p.E55G|c.164A>G|3,BUFFER|p.D58N|c.172G>A|4,BUFFER|p.S60P|c.178T>C|6	.	.	.	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	2	.	HIGH	3/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	deletion	CTNNB1,splice_donor_variant,,ENST00000349496,;CTNNB1,splice_donor_variant,,ENST00000450969,;CTNNB1,splice_donor_variant,,ENST00000431914,;CTNNB1,splice_donor_variant,,ENST00000396185,;CTNNB1,splice_donor_variant,,ENST00000405570,;CTNNB1,splice_donor_variant,,ENST00000453024,;CTNNB1,splice_donor_variant,,ENST00000396183,;CTNNB1,splice_donor_variant,,ENST00000441708,;CTNNB1,coding_sequence_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,splice_donor_variant,,ENST00000488914,;	367-?	130	162	SUCCESS
RNF123	63891	.	GRCh37	3	49737930	49737930	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	42	102	0	ENST00000327697.6:c.1136A>T	p.Lys379Met	p.K379M	ENST00000327697	NM_022064.3	379	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS33758.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAAGCAGT	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,missense_variant,p.Lys379Met,ENST00000327697,;RNF123,missense_variant,p.Lys233Met,ENST00000432042,;RNF123,downstream_gene_variant,,ENST00000454491,;RNF123,missense_variant,p.Lys379Met,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000494005,;RNF123,downstream_gene_variant,,ENST00000443204,;	1280	102	177	SUCCESS
GRM2	2912	.	GRCh37	3	51746931	51746931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	28	60	1	ENST00000395052.3:c.893G>A	p.Gly298Glu	p.G298E	ENST00000395052	NM_000839.3	298	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2834.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGGGCCC	NONE	.	.	hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000378492	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000395052	Transcript	.	.	ENSG00000164082	4594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	GRM2_HUMAN	GRM2	HGNC	C9JD41_HUMAN	.	UPI000013E346	SNV	GRM2,missense_variant,p.Gly298Glu,ENST00000442933,;GRM2,missense_variant,p.Gly298Glu,ENST00000395052,;GRM2,downstream_gene_variant,,ENST00000419928,;GRM2,non_coding_transcript_exon_variant,,ENST00000496661,;GRM2,intron_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,missense_variant,p.Gly298Glu,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	1127	61	129	SUCCESS
TBC1D9	23158	.	GRCh37	4	141555157	141555157	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	41	94	0	ENST00000442267.2:c.2691A>G	p.Leu897=	p.L897=	ENST00000442267	NM_015130.2	897	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47136.1	2691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAATAACTG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000411197	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,synonymous_variant,p.%3D,ENST00000442267,;	2766	94	96	SUCCESS
GAB1	2549	.	GRCh37	4	144381524	144381524	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	69	0	ENST00000262994.4:c.1687A>T	p.Arg563Trp	p.R563W	ENST00000262994	NM_002039.3	563	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS3760.1	1777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGGTTT	NONE	.	.	hmmpanther:PTHR12156:SF18,hmmpanther:PTHR12156	.	.	ENSP00000262995	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000262995	Transcript	.	.	ENSG00000109458	4066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	GAB1_HUMAN	GAB1	HGNC	D6RF42_HUMAN	.	UPI0000232A33	SNV	GAB1,missense_variant,p.Arg563Trp,ENST00000262994,;GAB1,missense_variant,p.Arg460Trp,ENST00000505913,;GAB1,missense_variant,p.Arg593Trp,ENST00000262995,;GAB1,intron_variant,,ENST00000512843,;GAB1,non_coding_transcript_exon_variant,,ENST00000508833,;GAB1,downstream_gene_variant,,ENST00000510615,;GAB1,downstream_gene_variant,,ENST00000507070,;	2204	69	71	SUCCESS
FSTL5	56884	.	GRCh37	4	162307202	162307202	+	synonymous_variant	Silent	SNP	G	G	C	rs1292640381	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	51	112	0	ENST00000306100.5:c.2241C>G	p.Ser747=	p.S747=	ENST00000306100	NM_001128427.2	747	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3802.1	2241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGGATGG	NONE	.	.	Superfamily_domains:0047643,Gene3D:2.130.10.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,synonymous_variant,p.%3D,ENST00000379164,;FSTL5,synonymous_variant,p.%3D,ENST00000536695,;FSTL5,synonymous_variant,p.%3D,ENST00000427802,;FSTL5,synonymous_variant,p.%3D,ENST00000306100,;RP11-234O6.2,non_coding_transcript_exon_variant,,ENST00000508189,;	2678	112	118	SUCCESS
CEP44	80817	.	GRCh37	4	175220276	175220276	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1488687493	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	70	0	ENST00000296519.4:c.4G>A	p.Ala2Thr	p.A2T	ENST00000296519		2	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47163.1	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGGCAACA	NONE	.	.	hmmpanther:PTHR31477,hmmpanther:PTHR31477:SF1	.	.	ENSP00000389427	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000457424	Transcript	.	.	ENSG00000164118	29356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	CEP44_HUMAN	CEP44	HGNC	D6RGX6_HUMAN,D6RC25_HUMAN,D6RBX1_HUMAN	.	UPI000014031D	SNV	CEP44,missense_variant,p.Ala2Thr,ENST00000296519,;CEP44,missense_variant,p.Ala2Thr,ENST00000514712,;CEP44,missense_variant,p.Ala2Thr,ENST00000503053,;CEP44,missense_variant,p.Ala2Thr,ENST00000503780,;CEP44,missense_variant,p.Ala2Thr,ENST00000505124,;CEP44,missense_variant,p.Ala2Thr,ENST00000457424,;CEP44,missense_variant,p.Ala2Thr,ENST00000515299,;CEP44,missense_variant,p.Ala2Thr,ENST00000426172,;CEP44,missense_variant,p.Ala2Thr,ENST00000396791,;	309	70	67	SUCCESS
BEND4	389206	.	GRCh37	4	42122083	42122083	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	90	0	ENST00000502486.1:c.1375A>G	p.Thr459Ala	p.T459A	ENST00000502486	NM_207406.3	459	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47048.1	1375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGTTACTT	NONE	.	.	PROSITE_profiles:PS51457,Pfam_domain:PF10523,SMART_domains:SM01025	.	.	ENSP00000421169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious_low_confidence(0.01)	.	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,missense_variant,p.Thr459Ala,ENST00000502486,;BEND4,intron_variant,,ENST00000504360,;	1955	90	113	SUCCESS
FRYL	285527	.	GRCh37	4	48517192	48517192	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	34	88	0	ENST00000358350.4:c.7790T>G	p.Ile2597Ser	p.I2597S	ENST00000358350	NM_015030.1	2597	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS43227.1	7790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAATTCCT	NONE	.	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	56/64	.	.	.	.	.	.	.	.	.	56/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.83)	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,missense_variant,p.Ile2597Ser,ENST00000358350,;FRYL,missense_variant,p.Ile2597Ser,ENST00000503238,;FRYL,missense_variant,p.Ile2597Ser,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000514617,;FRYL,non_coding_transcript_exon_variant,,ENST00000512810,;	8395	88	87	SUCCESS
CRMP1	1400	.	GRCh37	4	5827327	5827327	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	62	174	0	ENST00000397890.2:c.1521del	p.Ala508LeufsTer39	p.A508Lfs*39	ENST00000397890	NM_001313.3	507	ccA/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS33950.1	1863	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTAGCTGGTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54	.	.	ENSP00000321606	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	deletion	CRMP1,frameshift_variant,p.Ala506LeufsTer39,ENST00000512574,;CRMP1,frameshift_variant,p.Ala622LeufsTer39,ENST00000324989,;CRMP1,frameshift_variant,p.Ala508LeufsTer39,ENST00000397890,;EVC,intron_variant,,ENST00000382674,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;CRMP1,non_coding_transcript_exon_variant,,ENST00000513911,;	1952	174	223	SUCCESS
ALB	213	.	GRCh37	4	74276072	74276073	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	313	129	335	0	ENST00000295897.4:c.662_663del	p.Arg221ThrfsTer30	p.R221Tfs*30	ENST00000295897	NM_000477.5	220	cAG/c	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS3555.1	659-660	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAACAGAGACT	BUFFER|p.S216L|c.647C>T|3	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520	.	.	ENSP00000295897	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Arg221ThrfsTer30,ENST00000509063,;ALB,frameshift_variant,p.Arg66ThrfsTer30,ENST00000511370,;ALB,frameshift_variant,p.Arg221ThrfsTer30,ENST00000295897,;ALB,frameshift_variant,p.Arg71ThrfsTer30,ENST00000503124,;ALB,frameshift_variant,p.Arg106ThrfsTer30,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,frameshift_variant,p.Asp87LeufsTer389,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	748-749	335	442	SUCCESS
ALB	213	.	GRCh37	4	74280766	74280766	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs537985931	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	67	0	ENST00000295897.4:c.1073A>G	p.Tyr358Cys	p.Y358C	ENST00000295897	NM_000477.5	358	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3555.1	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATATGCAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	9/15	.	.	.	.	.	.	.	.	rs537985931	9/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Tyr358Cys,ENST00000509063,;ALB,missense_variant,p.Tyr203Cys,ENST00000511370,;ALB,missense_variant,p.Tyr166Cys,ENST00000415165,;ALB,missense_variant,p.Tyr358Cys,ENST00000295897,;ALB,missense_variant,p.Tyr208Cys,ENST00000503124,;ALB,missense_variant,p.Tyr243Cys,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,non_coding_transcript_exon_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;	1162	67	63	SUCCESS
CPZ	8532	.	GRCh37	4	8594614	8594614	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	104	0	ENST00000360986.4:c.54C>A	p.Ala18=	p.A18=	ENST00000360986	NM_001014447.2	18	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33953.1	54	RADIA|MUTECT|MUSE	.	GCTGCCCGGCC	NONE	.	.	hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000354255	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000360986	Transcript	.	.	ENSG00000109625	2333	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBPZ_HUMAN	CPZ	HGNC	.	.	UPI000020BCC5	SNV	CPZ,synonymous_variant,p.%3D,ENST00000360986,;CPZ,synonymous_variant,p.%3D,ENST00000315782,;CPZ,5_prime_UTR_variant,,ENST00000382480,;CPZ,non_coding_transcript_exon_variant,,ENST00000504070,;CPZ,non_coding_transcript_exon_variant,,ENST00000506287,;CPZ,synonymous_variant,p.%3D,ENST00000515606,;CPZ,non_coding_transcript_exon_variant,,ENST00000514602,;CPZ,non_coding_transcript_exon_variant,,ENST00000514875,;GPR78,intron_variant,,ENST00000514302,;	228	104	107	SUCCESS
NEUROG1	4762	.	GRCh37	5	134871557	134871557	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs549824184	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	103	0	ENST00000314744.4:c.-177A>G		p.*59*	ENST00000314744	NM_006161.2			0	.	G:0.0015	.	G:0	.	C	.	protein_coding	YES	CCDS4187.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTGGCCT	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000317580	G:0	1/1	.	.	.	.	.	.	.	.	rs549824184	1/1	PASS	ENST00000314744	Transcript	.	G:0.0004	ENSG00000181965	7764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	NGN1_HUMAN	NEUROG1	HGNC	F1T0H3_HUMAN	.	UPI0000072868	SNV	NEUROG1,5_prime_UTR_variant,,ENST00000314744,;	83	103	104	SUCCESS
DIAPH1	1729	.	GRCh37	5	140958709	140958709	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	70	148	0	ENST00000389054.3:c.879A>G	p.Glu293=	p.E293=	ENST00000389054		293	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS43374.1	879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACGTTCCAC	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF06367,Superfamily_domains:SSF48371	.	.	ENSP00000381565	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000398557	Transcript	1	.	ENSG00000131504	2876	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIAP1_HUMAN	DIAPH1	HGNC	Q96IL1_HUMAN,Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E5RJ79_HUMAN,B4DVR3_HUMAN,A0RZB7_HUMAN	.	UPI0000EA87E6	SNV	DIAPH1,synonymous_variant,p.%3D,ENST00000253811,;DIAPH1,synonymous_variant,p.%3D,ENST00000520569,;DIAPH1,synonymous_variant,p.%3D,ENST00000389057,;DIAPH1,synonymous_variant,p.%3D,ENST00000398557,;DIAPH1,synonymous_variant,p.%3D,ENST00000518047,;DIAPH1,synonymous_variant,p.%3D,ENST00000398562,;DIAPH1,synonymous_variant,p.%3D,ENST00000389054,;DIAPH1,synonymous_variant,p.%3D,ENST00000398566,;DIAPH1,downstream_gene_variant,,ENST00000524301,;DIAPH1,synonymous_variant,p.%3D,ENST00000521457,;DIAPH1,3_prime_UTR_variant,,ENST00000523100,;DIAPH1,upstream_gene_variant,,ENST00000472516,;	1020	148	156	SUCCESS
FBXO38	81545	.	GRCh37	5	147793761	147793761	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs571472179	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	62	1	ENST00000340253.5:c.1156A>G	p.Ile386Val	p.I386V	ENST00000340253	NM_030793.4	386	Atc/Gtc	0	.	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS43384.1	1156	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGTATCATC	NONE	by1000G	.	hmmpanther:PTHR14753,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	G:0	.	ENSP00000377895	G:0	10/22	.	.	.	.	.	.	.	.	rs571472179	10/22	PASS	ENST00000394370	Transcript	1	G:0.0002	ENSG00000145868	28844	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	G:0.001	tolerated(0.24)	.	FBX38_HUMAN	FBXO38	HGNC	.	.	UPI000034ECEB	SNV	FBXO38,missense_variant,p.Ile386Val,ENST00000394370,;FBXO38,missense_variant,p.Ile386Val,ENST00000513826,;FBXO38,missense_variant,p.Ile386Val,ENST00000296701,;FBXO38,missense_variant,p.Ile386Val,ENST00000340253,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,upstream_gene_variant,,ENST00000508485,;FBXO38,downstream_gene_variant,,ENST00000509699,;FBXO38,non_coding_transcript_exon_variant,,ENST00000508670,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509273,;FBXO38,downstream_gene_variant,,ENST00000502571,;	1257	63	72	SUCCESS
FLT4	2324	.	GRCh37	5	180040034	180040034	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	77	0	ENST00000261937.6:c.3408C>T	p.Ala1136=	p.A1136=	ENST00000261937	NM_182925.4	1136	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4457.1	3408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGGGCCCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50011	.	.	ENSP00000261937	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,downstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000510000,;FLT4,upstream_gene_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000514810,;	3487	77	79	SUCCESS
NDUFS6	4726	.	GRCh37	5	1802445	1802445	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs199652659	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	51	106	0	ENST00000274137.5:c.143del	p.Asp48ValfsTer10	p.D48Vfs*10	ENST00000274137	NM_004553.4	48	gAt/gt	0	.	T:0	.	T:0	.	-	D/X	protein_coding	YES	CCDS3866.1	143	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGATGATAAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR13156,PIRSF_domain:PIRSF016564	T:0	.	ENSP00000274137	T:0.001	2/4	.	.	.	.	.	.	.	.	rs199652659	2/4	PASS	ENST00000274137	Transcript	1	T:0.0002	ENSG00000145494	7713	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	NDUS6_HUMAN	NDUFS6	HGNC	Q6IBC4_HUMAN	.	UPI000000DB49	deletion	NDUFS6,frameshift_variant,p.Asp48ValfsTer10,ENST00000469176,;NDUFS6,frameshift_variant,p.Asp48ValfsTer10,ENST00000274137,;MRPL36,upstream_gene_variant,,ENST00000508987,;MRPL36,upstream_gene_variant,,ENST00000505059,;MRPL36,upstream_gene_variant,,ENST00000505818,;MRPL36,upstream_gene_variant,,ENST00000382647,;MRPL36,upstream_gene_variant,,ENST00000510999,;NDUFS6,downstream_gene_variant,,ENST00000510329,;	161	106	178	SUCCESS
BRIX1	55299	.	GRCh37	5	34922835	34922835	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	85	252	0	ENST00000336767.5:c.472T>C	p.Cys158Arg	p.C158R	ENST00000336767	NM_018321.3	158	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS34143.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACTGTTTG	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR13634,Pfam_domain:PF04427,SMART_domains:SM00879,Superfamily_domains:SSF52954	.	.	ENSP00000338862	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000336767	Transcript	.	.	ENSG00000113460	24170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BRX1_HUMAN	BRIX1	HGNC	Q9NUW4_HUMAN	.	UPI000007186B	SNV	BRIX1,missense_variant,p.Cys158Arg,ENST00000336767,;RAD1,upstream_gene_variant,,ENST00000341754,;BRIX1,non_coding_transcript_exon_variant,,ENST00000506023,;BRIX1,non_coding_transcript_exon_variant,,ENST00000515798,;BRIX1,non_coding_transcript_exon_variant,,ENST00000510960,;BRIX1,downstream_gene_variant,,ENST00000510834,;	835	252	243	SUCCESS
NIM1K	167359	.	GRCh37	5	43245877	43245877	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	88	0	ENST00000326035.2:c.-1G>T		p.*1*	ENST00000326035	NM_153361.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3943.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGATGAC	NONE	.	.	.	.	.	ENSP00000420849	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000512796	Transcript	.	.	ENSG00000177453	28646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIM1_HUMAN	NIM1K	HGNC	.	.	UPI0000035B5F	SNV	NIM1K,5_prime_UTR_variant,,ENST00000512796,;NIM1K,5_prime_UTR_variant,,ENST00000326035,;NIM1K,downstream_gene_variant,,ENST00000509362,;NIM1K,downstream_gene_variant,,ENST00000440285,;NIM1K,downstream_gene_variant,,ENST00000513797,;	1499	88	94	SUCCESS
SETD9	133383	.	GRCh37	5	56212656	56212656	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	63	0	ENST00000285947.2:c.827T>G	p.Val276Gly	p.V276G	ENST00000285947	NM_153706.3	276	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS3972.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGTTGTTC	NONE	.	.	PROSITE_profiles:PS50280,Gene3D:2.170.270.10,Superfamily_domains:SSF82199	.	.	ENSP00000285947	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000285947	Transcript	.	.	ENSG00000155542	28508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.07)	.	SETD9_HUMAN	SETD9	HGNC	.	.	UPI000013DE19	SNV	SETD9,missense_variant,p.Val276Gly,ENST00000285947,;SETD9,intron_variant,,ENST00000541720,;MIER3,downstream_gene_variant,,ENST00000381199,;MIER3,downstream_gene_variant,,ENST00000381226,;MIER3,downstream_gene_variant,,ENST00000381213,;SETD9,non_coding_transcript_exon_variant,,ENST00000463805,;SETD9,non_coding_transcript_exon_variant,,ENST00000475908,;SETD9,downstream_gene_variant,,ENST00000477359,;SETD9,downstream_gene_variant,,ENST00000472636,;SETD9,downstream_gene_variant,,ENST00000480414,;SETD9,3_prime_UTR_variant,,ENST00000418299,;MIER3,downstream_gene_variant,,ENST00000452157,;	1213	63	73	SUCCESS
UTRN	7402	.	GRCh37	6	144783861	144783861	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769299512	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	73	205	0	ENST00000367545.3:c.2925G>T	p.Glu975Asp	p.E975D	ENST00000367545	NM_007124.2	975	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS34547.1	2925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGAAAAA	NONE	byFrequency	.	hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000356515	.	22/74	.	.	.	.	.	.	.	.	rs769299512	22/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.35)	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,missense_variant,p.Glu975Asp,ENST00000367545,;	2925	205	177	SUCCESS
UTRN	7402	.	GRCh37	6	144808683	144808683	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	57	0	ENST00000367545.3:c.3823-1G>T		p.X1275_splice	ENST00000367545	NM_007124.2	1275		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTCTCT	NONE	.	.	.	.	.	ENSP00000356515	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	HIGH	27/73	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,splice_acceptor_variant,,ENST00000367545,;	.	57	69	SUCCESS
SOD2	6648	.	GRCh37	6	160114274	160114274	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	34	0	ENST00000538183.2:c.-75C>T		p.*25*	ENST00000538183	NM_000636.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5265.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTGCCGCT	NONE	.	.	.	.	.	ENSP00000446252	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000538183	Transcript	.	.	ENSG00000112096	11180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SODM_HUMAN	SOD2	HGNC	Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN	.	UPI000006D275	SNV	SOD2,5_prime_UTR_variant,,ENST00000452684,;SOD2,5_prime_UTR_variant,,ENST00000538183,;SOD2,5_prime_UTR_variant,,ENST00000337404,;SOD2,intron_variant,,ENST00000545162,;SOD2,intron_variant,,ENST00000535561,;SOD2,intron_variant,,ENST00000537657,;SOD2,intron_variant,,ENST00000401980,;SOD2,intron_variant,,ENST00000546087,;SOD2,upstream_gene_variant,,ENST00000367054,;SOD2,upstream_gene_variant,,ENST00000367055,;SOD2,upstream_gene_variant,,ENST00000444946,;SOD2,upstream_gene_variant,,ENST00000541573,;SOD2,upstream_gene_variant,,ENST00000540491,;SOD2,upstream_gene_variant,,ENST00000535459,;SOD2,upstream_gene_variant,,ENST00000546260,;	87	34	36	SUCCESS
BYSL	705	.	GRCh37	6	41900409	41900409	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201808575	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	94	0	ENST00000230340.4:c.1279C>T	p.Arg427Cys	p.R427C	ENST00000230340	NM_004053.3	427	Cgc/Tgc	0	T:0	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS34450.1	1279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCCGCGAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12821,hmmpanther:PTHR12821:SF0,Pfam_domain:PF05291	T:0	T:0.0001	ENSP00000230340	T:0	7/7	.	.	.	.	.	.	.	.	rs201808575	7/7	PASS	ENST00000230340	Transcript	.	T:0.0002	ENSG00000112578	1157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	T:0	deleterious(0)	.	BYST_HUMAN	BYSL	HGNC	.	.	UPI0000034CC4	SNV	BYSL,missense_variant,p.Arg427Cys,ENST00000230340,;CCND3,downstream_gene_variant,,ENST00000508143,;CCND3,downstream_gene_variant,,ENST00000414200,;CCND3,downstream_gene_variant,,ENST00000505064,;CCND3,downstream_gene_variant,,ENST00000415497,;CCND3,downstream_gene_variant,,ENST00000511642,;CCND3,downstream_gene_variant,,ENST00000372991,;CCND3,downstream_gene_variant,,ENST00000510503,;CCND3,downstream_gene_variant,,ENST00000512426,;CCND3,downstream_gene_variant,,ENST00000372987,;CCND3,downstream_gene_variant,,ENST00000372988,;CCND3,downstream_gene_variant,,ENST00000511686,;CCND3,downstream_gene_variant,,ENST00000506555,;CCND3,downstream_gene_variant,,ENST00000513956,;BYSL,3_prime_UTR_variant,,ENST00000372996,;CCND3,downstream_gene_variant,,ENST00000510058,;CCND3,downstream_gene_variant,,ENST00000511161,;BYSL,downstream_gene_variant,,ENST00000489290,;CCND3,downstream_gene_variant,,ENST00000505884,;BYSL,downstream_gene_variant,,ENST00000475702,;CCND3,downstream_gene_variant,,ENST00000505672,;	1654	94	100	SUCCESS
AARS2	57505	.	GRCh37	6	44275036	44275036	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	53	0	ENST00000244571.4:c.990A>T	p.Thr330=	p.T330=	ENST00000244571	NM_020745.3	330	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34464.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTGTGCG	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344,Superfamily_domains:0049182,Prints_domain:PR00980	.	.	ENSP00000244571	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,synonymous_variant,p.%3D,ENST00000244571,;TMEM151B,3_prime_UTR_variant,,ENST00000438774,;RP11-444E17.6,3_prime_UTR_variant,,ENST00000505802,;	993	53	65	SUCCESS
AARS2	57505	.	GRCh37	6	44275037	44275037	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771227157	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	54	0	ENST00000244571.4:c.989C>T	p.Thr330Ile	p.T330I	ENST00000244571	NM_020745.3	330	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34464.1	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGTGCGG	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344,Superfamily_domains:0049182,Prints_domain:PR00980	.	.	ENSP00000244571	.	6/22	.	.	.	.	.	.	.	.	rs771227157	6/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	.	deleterious(0)	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,missense_variant,p.Thr330Ile,ENST00000244571,;TMEM151B,3_prime_UTR_variant,,ENST00000438774,;RP11-444E17.6,3_prime_UTR_variant,,ENST00000505802,;	992	54	64	SUCCESS
GPR110	0	.	GRCh37	6	46975013	46975013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	141	343	0	ENST00000371253.2:c.2509T>C	p.Phe837Leu	p.F837L	ENST00000371253	NM_153840.2	837	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS34471.1	2509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAAGCATA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Prints_domain:PR00249	.	.	ENSP00000360299	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.706)	.	deleterious(0)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Phe640Leu,ENST00000283297,;GPR110,missense_variant,p.Phe837Leu,ENST00000371253,;GPR110,non_coding_transcript_exon_variant,,ENST00000449332,;GPR110,non_coding_transcript_exon_variant,,ENST00000419892,;GPR110,downstream_gene_variant,,ENST00000475745,;	2725	343	316	SUCCESS
DST	667	.	GRCh37	6	56494214	56494214	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	78	0	ENST00000244364.6:c.2698A>G	p.Arg900Gly	p.R900G	ENST00000244364	NM_015548.4	900	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS47443.1	2698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTCTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38	.	.	ENSP00000244364	.	18/84	.	.	.	.	.	.	.	.	.	18/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Arg900Gly,ENST00000439203,;DST,missense_variant,p.Arg900Gly,ENST00000446842,;DST,missense_variant,p.Arg1226Gly,ENST00000370788,;DST,missense_variant,p.Arg900Gly,ENST00000244364,;DST,missense_variant,p.Arg1266Gly,ENST00000520645,;DST,missense_variant,p.Arg900Gly,ENST00000370765,;DST,missense_variant,p.Arg1404Gly,ENST00000370754,;DST,missense_variant,p.Arg1226Gly,ENST00000361203,;DST,missense_variant,p.Arg1226Gly,ENST00000370769,;DST,missense_variant,p.Arg1226Gly,ENST00000312431,;DST,missense_variant,p.Arg1226Gly,ENST00000421834,;DST,missense_variant,p.Arg900Gly,ENST00000518935,;DST,upstream_gene_variant,,ENST00000522360,;	2906	78	75	SUCCESS
SLC26A4	5172	.	GRCh37	7	107350597	107350597	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs397516428	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	56	122	0	ENST00000265715.3:c.2188C>G	p.Gln730Glu	p.Q730E	ENST00000265715	NM_000441.1	730	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS5746.1	2188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATCTACAGAAC	NONE	.	.	hmmpanther:PTHR11814:SF33,hmmpanther:PTHR11814,Gene3D:3.30.750.24	.	.	ENSP00000265715	.	19/21	.	.	.	.	.	.	.	.	rs397516428	19/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.21)	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,missense_variant,p.Gln317Glu,ENST00000544569,;SLC26A4,missense_variant,p.Gln730Glu,ENST00000265715,;SLC26A4,missense_variant,p.Gln299Glu,ENST00000543100,;SLC26A4,missense_variant,p.Gln291Glu,ENST00000541474,;SLC26A4,splice_region_variant,,ENST00000492030,;	2412	122	124	SUCCESS
WDR91	29062	.	GRCh37	7	134874129	134874129	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	50	120	0	ENST00000354475.4:c.1735A>G	p.Thr579Ala	p.T579A	ENST00000354475	NM_014149.3	579	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34758.1	1735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTGACCA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13083,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000346466	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000354475	Transcript	.	.	ENSG00000105875	24997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	deleterious(0.01)	.	WDR91_HUMAN	WDR91	HGNC	.	.	UPI000006F2DE	SNV	WDR91,missense_variant,p.Thr579Ala,ENST00000354475,;WDR91,missense_variant,p.Thr579Ala,ENST00000344400,;WDR91,missense_variant,p.Thr544Ala,ENST00000423565,;WDR91,non_coding_transcript_exon_variant,,ENST00000462707,;WDR91,non_coding_transcript_exon_variant,,ENST00000497853,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;WDR91,downstream_gene_variant,,ENST00000474411,;WDR91,downstream_gene_variant,,ENST00000479698,;	1767	120	131	SUCCESS
DPP6	1804	.	GRCh37	7	154002579	154002579	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	59	0	ENST00000377770.3:c.244-140720C>A		p.*82*	ENST00000377770				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCATGAC	NONE	.	.	.	.	.	ENSP00000367001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODIFIER	1/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,5_prime_UTR_variant,,ENST00000427557,;DPP6,5_prime_UTR_variant,,ENST00000332007,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000496611,;DPP6,non_coding_transcript_exon_variant,,ENST00000462622,;	.	60	47	SUCCESS
SP8	221833	.	GRCh37	7	20823935	20823935	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	13	0	ENST00000361443.4:c.1447C>G	p.Pro483Ala	p.P483A	ENST00000361443	NM_198956.2	483	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS43555.1	1501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGCTCGG	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134	.	.	ENSP00000408792	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000418710	Transcript	.	.	ENSG00000164651	19196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.06)	.	SP8_HUMAN	SP8	HGNC	.	.	UPI00001AADF2	SNV	SP8,missense_variant,p.Pro501Ala,ENST00000418710,;SP8,missense_variant,p.Pro483Ala,ENST00000361443,;	1589	13	19	SUCCESS
TNS3	64759	.	GRCh37	7	47333412	47333412	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	103	1	ENST00000311160.9:c.3691A>G	p.Asn1231Asp	p.N1231D	ENST00000311160	NM_022748.11	1231	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS5506.2	3691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATTGGCCA	NONE	.	.	Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305,PROSITE_profiles:PS50001	.	.	ENSP00000381854	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Asn1231Asp,ENST00000398879,;TNS3,missense_variant,p.Asn1231Asp,ENST00000311160,;TNS3,missense_variant,p.Asn991Asp,ENST00000355730,;	4058	104	91	SUCCESS
LIMK1	3984	.	GRCh37	7	73521439	73521439	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	72	0	ENST00000336180.2:c.981C>G	p.Val327=	p.V327=	ENST00000336180	NM_002314.3	327	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS5563.1	981	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTCTGCCG	NONE	.	.	Gene3D:3.30.200.20,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379	.	.	ENSP00000336740	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000336180	Transcript	.	.	ENSG00000106683	6613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIMK1_HUMAN	LIMK1	HGNC	Q75MU4_HUMAN	.	UPI000013D678	SNV	LIMK1,synonymous_variant,p.%3D,ENST00000418310,;LIMK1,synonymous_variant,p.%3D,ENST00000538333,;LIMK1,synonymous_variant,p.%3D,ENST00000336180,;LIMK1,downstream_gene_variant,,ENST00000491052,;LIMK1,3_prime_UTR_variant,,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000483414,;	1032	72	84	SUCCESS
HIP1	3092	.	GRCh37	7	75174049	75174049	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	32	79	0	ENST00000336926.6:c.2710A>T	p.Met904Leu	p.M904L	ENST00000336926	NM_005338.6	904	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS34669.1	2710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATTAGCT	NONE	.	.	PROSITE_profiles:PS50945,hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407,Gene3D:1r0dB00,Pfam_domain:PF01608,SMART_domains:SM00307,Superfamily_domains:SSF109885	.	.	ENSP00000336747	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.05)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Met853Leu,ENST00000434438,;HIP1,missense_variant,p.Met904Leu,ENST00000336926,;	2737	79	95	SUCCESS
ATAD2	29028	.	GRCh37	8	124335222	124335222	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	246	79	0	ENST00000287394.5:c.4087A>G	p.Ile1363Val	p.I1363V	ENST00000287394	NM_014109.3	1363	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6343.1	4087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATACATT	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1	.	.	ENSP00000287394	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.668)	.	deleterious(0.03)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Ile1363Val,ENST00000287394,;ATAD2,missense_variant,p.Ile681Val,ENST00000521903,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;	4195	79	306	SUCCESS
FAM135B	51059	.	GRCh37	8	139263244	139263244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	41	79	0	ENST00000395297.1:c.382G>T	p.Ala128Ser	p.A128S	ENST00000395297	NM_015912.3	128	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6375.2	382	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCACAT	NONE	.	.	Pfam_domain:PF12394,hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482	.	.	ENSP00000378710	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000395297	Transcript	.	.	ENSG00000147724	28029	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.1)	.	tolerated(1)	.	F135B_HUMAN	FAM135B	HGNC	J3QSR3_HUMAN	.	UPI000057A0DB	SNV	FAM135B,missense_variant,p.Ala128Ser,ENST00000160713,;FAM135B,missense_variant,p.Ala128Ser,ENST00000395297,;FAM135B,missense_variant,p.Ala128Ser,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	553	79	281	SUCCESS
PTK2	5747	.	GRCh37	8	141745494	141745494	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	143	100	0	ENST00000521059.1:c.1886A>G	p.Asn629Ser	p.N629S	ENST00000521059	NM_005607.4	629	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS56557.1	1886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATTGTTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000341189	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	tolerated(0.14)	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,missense_variant,p.Asn297Ser,ENST00000538769,;PTK2,missense_variant,p.Asn257Ser,ENST00000519465,;PTK2,missense_variant,p.Asn640Ser,ENST00000519654,;PTK2,missense_variant,p.Asn629Ser,ENST00000340930,;PTK2,missense_variant,p.Asn629Ser,ENST00000535192,;PTK2,missense_variant,p.Asn327Ser,ENST00000521986,;PTK2,missense_variant,p.Asn301Ser,ENST00000523539,;PTK2,missense_variant,p.Asn629Ser,ENST00000522684,;PTK2,missense_variant,p.Asn629Ser,ENST00000521059,;PTK2,missense_variant,p.Asn673Ser,ENST00000519419,;PTK2,missense_variant,p.Asn629Ser,ENST00000395218,;PTK2,missense_variant,p.Asn673Ser,ENST00000517887,;MIR151A,upstream_gene_variant,,ENST00000521276,;PTK2,non_coding_transcript_exon_variant,,ENST00000518509,;PTK2,3_prime_UTR_variant,,ENST00000521029,;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000519993,;PTK2,non_coding_transcript_exon_variant,,ENST00000520917,;PTK2,intron_variant,,ENST00000521981,;PTK2,intron_variant,,ENST00000521250,;	2041	100	204	SUCCESS
NRBP2	340371	.	GRCh37	8	144918306	144918306	+	synonymous_variant	Silent	SNP	C	C	T	rs143477290	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	42	56	0	ENST00000442628.2:c.1308G>A	p.Ala436=	p.A436=	ENST00000442628	NM_178564.3	436	gcG/gcA	0	T:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS34959.2	1308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGCGCCTT	NONE	byCluster	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53	.	T:0	ENSP00000414055	.	15/18	.	.	.	.	.	.	.	.	rs143477290	15/18	PASS	ENST00000442628	Transcript	.	.	ENSG00000185189	19339	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRBP2_HUMAN	NRBP2	HGNC	E9PR11_HUMAN,D3DWK9_HUMAN	.	UPI00017A7042	SNV	NRBP2,synonymous_variant,p.%3D,ENST00000530123,;NRBP2,synonymous_variant,p.%3D,ENST00000442628,;NRBP2,synonymous_variant,p.%3D,ENST00000327830,;NRBP2,downstream_gene_variant,,ENST00000530347,;RP11-299M14.2,upstream_gene_variant,,ENST00000534006,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533846,;NRBP2,non_coding_transcript_exon_variant,,ENST00000527545,;NRBP2,non_coding_transcript_exon_variant,,ENST00000529747,;NRBP2,non_coding_transcript_exon_variant,,ENST00000531729,;NRBP2,non_coding_transcript_exon_variant,,ENST00000423469,;NRBP2,non_coding_transcript_exon_variant,,ENST00000532940,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;	1448	57	157	SUCCESS
MIR320A	407037	.	GRCh37	8	22102508	22102508	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	76	0	ENST00000385302.1:n.49A>G		p.*17*	ENST00000385302				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34858.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTTTCCCG	NONE	.	240	.	.	.	ENSP00000380904	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397802	Transcript	.	.	ENSG00000168495	1080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPC4_HUMAN	POLR3D	HGNC	E5RHT4_HUMAN,D3DSR2_HUMAN	.	UPI000006CE69	SNV	POLR3D,upstream_gene_variant,,ENST00000397802,;POLR3D,upstream_gene_variant,,ENST00000519237,;POLR3D,upstream_gene_variant,,ENST00000306433,;MIR320A,mature_miRNA_variant,,ENST00000385302,;POLR3D,upstream_gene_variant,,ENST00000518039,;POLR3D,upstream_gene_variant,,ENST00000517789,;	.	76	59	SUCCESS
LRRCC1	85444	.	GRCh37	8	86037111	86037111	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	426	267	2	ENST00000360375.3:c.1209A>G	p.Ser403=	p.S403=	ENST00000360375	NM_033402.4	403	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS43750.1	1209	RADIA|VARSCANS	.	GAATCAGAAAA	NONE	.	.	hmmpanther:PTHR10588:SF31,hmmpanther:PTHR10588	.	.	ENSP00000353538	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000360375	Transcript	.	.	ENSG00000133739	29373	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRCC1_HUMAN	LRRCC1	HGNC	.	.	UPI000021002F	SNV	LRRCC1,synonymous_variant,p.%3D,ENST00000360375,;LRRCC1,synonymous_variant,p.%3D,ENST00000414626,;LRRCC1,3_prime_UTR_variant,,ENST00000522770,;LRRCC1,3_prime_UTR_variant,,ENST00000517875,;LRRCC1,3_prime_UTR_variant,,ENST00000523669,;LRRCC1,3_prime_UTR_variant,,ENST00000522567,;	1358	269	553	SUCCESS
RABL6	55684	.	GRCh37	9	139733868	139733868	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1395503878	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	91	114	0	ENST00000311502.7:c.1688C>A	p.Ala563Glu	p.A563E	ENST00000311502		563	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS55352.1	1691	RADIA|MUTECT|MUSE	.	TGCTGCACAAA	NONE	.	.	hmmpanther:PTHR14932	.	.	ENSP00000360727	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000371663	Transcript	.	.	ENSG00000196642	24703	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.765)	.	tolerated_low_confidence(0.23)	.	RABL6_HUMAN	RABL6	HGNC	.	.	UPI0000E0C208	SNV	RABL6,missense_variant,p.Ala564Glu,ENST00000371663,;RABL6,missense_variant,p.Ala357Glu,ENST00000435930,;RABL6,missense_variant,p.Ala448Glu,ENST00000371675,;RABL6,missense_variant,p.Ala563Glu,ENST00000311502,;RABL6,3_prime_UTR_variant,,ENST00000432842,;RABL6,intron_variant,,ENST00000357466,;C9orf172,upstream_gene_variant,,ENST00000436881,;RABL6,downstream_gene_variant,,ENST00000461992,;RABL6,downstream_gene_variant,,ENST00000466096,;RABL6,missense_variant,p.His450Asn,ENST00000484471,;RABL6,3_prime_UTR_variant,,ENST00000464941,;	1966	114	135	SUCCESS
RABL6	55684	.	GRCh37	9	139733888	139733888	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	100	117	0	ENST00000311502.7:c.1708A>C	p.Met570Leu	p.M570L	ENST00000311502		570	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS55352.1	1711	RADIA|MUTECT|MUSE	.	TCGTCATGGAT	NONE	.	.	hmmpanther:PTHR14932	.	.	ENSP00000360727	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000371663	Transcript	.	.	ENSG00000196642	24703	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	deleterious_low_confidence(0.02)	.	RABL6_HUMAN	RABL6	HGNC	.	.	UPI0000E0C208	SNV	RABL6,missense_variant,p.Met571Leu,ENST00000371663,;RABL6,missense_variant,p.Met364Leu,ENST00000435930,;RABL6,missense_variant,p.Met455Leu,ENST00000371675,;RABL6,missense_variant,p.Met570Leu,ENST00000311502,;RABL6,3_prime_UTR_variant,,ENST00000432842,;RABL6,intron_variant,,ENST00000357466,;C9orf172,upstream_gene_variant,,ENST00000436881,;RABL6,downstream_gene_variant,,ENST00000461992,;RABL6,downstream_gene_variant,,ENST00000466096,;RABL6,synonymous_variant,p.%3D,ENST00000484471,;RABL6,3_prime_UTR_variant,,ENST00000464941,;	1986	117	154	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971108	21971108	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs11552822	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	102	0	ENST00000304494.5:c.250G>T	p.Asp84Tyr	p.D84Y	ENST00000304494	NM_000077.4	84	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS56565.1	250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCGTGCA	SITE|p.R139L|c.416G>T|6,SITE|p.D84Y|c.250G>T|4,SITE|p.D84Y|c.250G>T|13,SITE|p.D84Y|c.250G>T|6,CODON|p.0?|c.1_471del471|15,CODON|p.D84V|c.251A>T|4,CODON|p.R139Q|c.416G>A|4,CODON|p.D84N|c.250G>A|4,CODON|p.D84N|c.250G>A|7,BUFFER|p.H83R|c.248A>G|3,BUFFER|p.H83Y|c.247C>T|5,BUFFER|p.H83Y|c.247C>T|6,BUFFER|p.A138V|c.413C>T|6,BUFFER|p.H83Y|c.247C>T|39,BUFFER|p.V82M|c.244G>A|3,BUFFER|p.P81L|c.242C>T|9,BUFFER|p.R80*|c.237_238CC>TT|10,BUFFER|p.R80Q|c.239G>A|3	byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	2/4	.	.	.	.	.	.	.	.	CM990358,CM085316,rs11552822,COSM13299,COSM13613,COSM13488,COSM238569,COSM216134,COSM216135,COSM238570,COSM1624861,COSM1554789	2/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1,1,1,1,1,1,1	.	18573309,24101876	probably_damaging(1)	.	deleterious(0)	0,0,0,1,1,1,1,1,1,1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,missense_variant,p.Asp33Tyr,ENST00000578845,;CDKN2A,missense_variant,p.Arg98Leu,ENST00000579755,;CDKN2A,missense_variant,p.Asp33Tyr,ENST00000494262,;CDKN2A,missense_variant,p.Asp33Tyr,ENST00000498628,;CDKN2A,missense_variant,p.Arg98Leu,ENST00000530628,;CDKN2A,missense_variant,p.Asp84Tyr,ENST00000446177,;CDKN2A,missense_variant,p.Asp84Tyr,ENST00000304494,;CDKN2A,missense_variant,p.Arg139Leu,ENST00000361570,;CDKN2A,missense_variant,p.Asp84Tyr,ENST00000498124,;CDKN2A,missense_variant,p.Asp33Tyr,ENST00000479692,;CDKN2A,missense_variant,p.Asp84Tyr,ENST00000579122,;CDKN2A,missense_variant,p.Asp33Tyr,ENST00000497750,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	289	102	96	SUCCESS
UBAP2	55833	.	GRCh37	9	33922747	33922747	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	55	0	ENST00000360802.1:c.3202T>A	p.Leu1068Met	p.L1068M	ENST00000360802	NM_018449.2	1068	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6547.1	3202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAAGATGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17	.	.	ENSP00000368540	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.05)	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,missense_variant,p.Leu1068Met,ENST00000379238,;UBAP2,missense_variant,p.Leu801Met,ENST00000379239,;UBAP2,missense_variant,p.Leu307Met,ENST00000379235,;UBAP2,missense_variant,p.Leu1068Met,ENST00000449054,;UBAP2,missense_variant,p.Leu823Met,ENST00000539807,;UBAP2,missense_variant,p.Leu1068Met,ENST00000360802,;UBE2R2,downstream_gene_variant,,ENST00000263228,;UBAP2,downstream_gene_variant,,ENST00000474372,;UBAP2,downstream_gene_variant,,ENST00000488443,;	3320	55	69	SUCCESS
HNRNPK	3190	.	GRCh37	9	86590525	86590525	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	16	0	ENST00000351839.3:c.214-105A>G		p.*72*	ENST00000351839				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6668.1	.	MUTECT|MUSE	.	GGGCATAGCCA	NONE	.	.	.	.	.	ENSP00000365439	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376263	Transcript	.	.	ENSG00000165119	5044	.	.	MODIFIER	5/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HNRPK_HUMAN	HNRNPK	HGNC	Q6IBN1_HUMAN	.	UPI0000021C42	SNV	HNRNPK,intron_variant,,ENST00000376264,;HNRNPK,intron_variant,,ENST00000351839,;HNRNPK,intron_variant,,ENST00000376263,;HNRNPK,intron_variant,,ENST00000457156,;HNRNPK,intron_variant,,ENST00000376281,;HNRNPK,intron_variant,,ENST00000360384,;HNRNPK,upstream_gene_variant,,ENST00000481820,;RP11-575L7.8,non_coding_transcript_exon_variant,,ENST00000448389,;HNRNPK,non_coding_transcript_exon_variant,,ENST00000376256,;HNRNPK,intron_variant,,ENST00000472778,;HNRNPK,upstream_gene_variant,,ENST00000493362,;HNRNPK,downstream_gene_variant,,ENST00000483135,;HNRNPK,upstream_gene_variant,,ENST00000492865,;	.	16	41	SUCCESS
ARMCX2	9823	.	GRCh37	X	100911129	100911129	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	52	48	0	ENST00000328766.5:c.1446C>A	p.Asn482Lys	p.N482K	ENST00000328766	NM_014782.5	482	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS14490.1	1446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGTTCAG	NONE	.	.	hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	.	.	ENSP00000331662	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000328766	Transcript	.	.	ENSG00000184867	16869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	ARMX2_HUMAN	ARMCX2	HGNC	Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN	.	UPI0000071305	SNV	ARMCX2,missense_variant,p.Asn482Lys,ENST00000356824,;ARMCX2,missense_variant,p.Asn482Lys,ENST00000328766,;ARMCX2,missense_variant,p.Asn482Lys,ENST00000330154,;ARMCX2,downstream_gene_variant,,ENST00000431597,;ARMCX2,downstream_gene_variant,,ENST00000458024,;ARMCX2,downstream_gene_variant,,ENST00000440675,;ARMCX2,downstream_gene_variant,,ENST00000433318,;ARMCX2,downstream_gene_variant,,ENST00000413506,;ARMCX2,downstream_gene_variant,,ENST00000467416,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000479333,;	1900	48	60	SUCCESS
CT55	54967	.	GRCh37	X	134305029	134305029	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367724422	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	79	80	0	ENST00000276241.6:c.67G>T	p.Gly23Cys	p.G23C	ENST00000276241	NM_001031705.2	23	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS35400.1	67	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF92	.	.	ENSP00000276241	.	1/6	.	.	.	.	.	.	.	.	rs367724422	1/6	PASS	ENST00000276241	Transcript	.	.	ENSG00000169551	26047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.1)	.	CX048_HUMAN	CT55	HGNC	.	.	UPI000006D94A	SNV	CT55,missense_variant,p.Gly23Cys,ENST00000344129,;CT55,missense_variant,p.Gly23Cys,ENST00000276241,;	294	80	89	SUCCESS
CHST7	56548	.	GRCh37	X	46433359	46433359	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	30	0	ENST00000276055.3:c.-8G>A		p.*3*	ENST00000276055	NM_019886.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14268.1	.	MUTECT|MUSE	.	GGGTCGGTGAA	NONE	.	.	.	.	.	ENSP00000276055	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000276055	Transcript	.	.	ENSG00000147119	13817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHST7_HUMAN	CHST7	HGNC	.	.	UPI000000DADD	SNV	CHST7,5_prime_UTR_variant,,ENST00000276055,;	141	30	28	SUCCESS
WDFY4	57705	.	GRCh37	10	50154082	50154082	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	50	106	0	ENST00000325239.5:c.7750-3T>A		p.X2584_splice	ENST00000325239	NM_020945.1	2584		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44385.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTAGACA	NONE	.	.	.	.	.	ENSP00000320563	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	LOW	48/60	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,splice_region_variant,,ENST00000413659,;WDFY4,splice_region_variant,,ENST00000325239,;WDFY4,splice_region_variant,,ENST00000265453,;WDFY4,upstream_gene_variant,,ENST00000465910,;	.	106	63	SUCCESS
CAMK2G	818	.	GRCh37	10	75620639	75620639	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	63	139	0	ENST00000322680.3:c.169A>G	p.Lys57Glu	p.K57E	ENST00000322680	NM_172170.4	57	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS7338.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTTCTGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF110,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000319060	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000322680	Transcript	.	.	ENSG00000148660	1463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious_low_confidence(0)	.	KCC2G_HUMAN	CAMK2G	HGNC	Q13280_HUMAN	.	UPI000016781F	SNV	CAMK2G,missense_variant,p.Lys57Glu,ENST00000322680,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000322635,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000305762,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000372765,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000394762,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000423381,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000444854,;CAMK2G,missense_variant,p.Lys57Glu,ENST00000351293,;CAMK2G,upstream_gene_variant,,ENST00000433289,;CAMK2G,non_coding_transcript_exon_variant,,ENST00000472912,;	293	139	77	SUCCESS
OR8J1	219477	.	GRCh37	11	56128125	56128125	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	44	116	0	ENST00000303039.3:c.403G>T	p.Val135Leu	p.V135L	ENST00000303039	NM_001005205.2	135	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS31529.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGTGGTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000304060	.	1/1	.	.	.	.	.	.	.	.	COSM3953376	1/1	PASS	ENST00000303039	Transcript	.	.	ENSG00000172487	14855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.191)	.	tolerated(0.21)	1	OR8J1_HUMAN	OR8J1	HGNC	.	.	UPI000004BE58	SNV	OR8J1,missense_variant,p.Val135Leu,ENST00000303039,;RPL5P29,downstream_gene_variant,,ENST00000482972,;	435	116	74	SUCCESS
ASRGL1	80150	.	GRCh37	11	62124510	62124510	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763414105	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	5	317	0	ENST00000301776.5:c.385A>G	p.Met129Val	p.M129V	ENST00000301776	NM_025080.3	129	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS8019.1	385	MUTECT|MUSE	.	CAGCTATGGGG	NONE	byFrequency	.	hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF18,Pfam_domain:PF01112,Superfamily_domains:SSF56235	.	.	ENSP00000400057	.	4/7	.	.	.	.	.	.	.	.	rs763414105	4/7	PASS	ENST00000415229	Transcript	.	.	ENSG00000162174	16448	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	.	tolerated(0.19)	.	ASGL1_HUMAN	ASRGL1	HGNC	Q9BRH2_HUMAN	.	UPI000004BF00	SNV	ASRGL1,start_lost,p.Met1?,ENST00000535727,;ASRGL1,missense_variant,p.Met129Val,ENST00000415229,;ASRGL1,missense_variant,p.Met129Val,ENST00000301776,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000526096,;ASRGL1,upstream_gene_variant,,ENST00000528206,;ASRGL1,3_prime_UTR_variant,,ENST00000534183,;ASRGL1,3_prime_UTR_variant,,ENST00000529226,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000534571,;	600	317	168	SUCCESS
YIF1A	10897	.	GRCh37	11	66053219	66053219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	58	0	ENST00000376901.4:c.438C>A	p.Phe146Leu	p.F146L	ENST00000376901	NM_020470.2	146	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS8132.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATGAAGGC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF03878,hmmpanther:PTHR14083:SF2,hmmpanther:PTHR14083	.	.	ENSP00000366098	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000376901	Transcript	.	.	ENSG00000174851	16688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.346)	.	deleterious(0)	.	YIF1A_HUMAN	YIF1A	HGNC	E9PS11_HUMAN	.	UPI000006ED3D	SNV	YIF1A,missense_variant,p.Phe146Leu,ENST00000359461,;YIF1A,missense_variant,p.Phe146Leu,ENST00000376901,;YIF1A,missense_variant,p.Phe146Leu,ENST00000431556,;YIF1A,missense_variant,p.Phe3Leu,ENST00000471387,;YIF1A,intron_variant,,ENST00000528575,;CNIH2,downstream_gene_variant,,ENST00000528852,;YIF1A,upstream_gene_variant,,ENST00000496746,;CNIH2,downstream_gene_variant,,ENST00000311445,;YIF1A,non_coding_transcript_exon_variant,,ENST00000526497,;CNIH2,downstream_gene_variant,,ENST00000530519,;YIF1A,3_prime_UTR_variant,,ENST00000484814,;YIF1A,downstream_gene_variant,,ENST00000376899,;CNIH2,downstream_gene_variant,,ENST00000528063,;CNIH2,downstream_gene_variant,,ENST00000531936,;CNIH2,downstream_gene_variant,,ENST00000534826,;YIF1A,downstream_gene_variant,,ENST00000474986,;YIF1A,upstream_gene_variant,,ENST00000485820,;YIF1A,upstream_gene_variant,,ENST00000494836,;YIF1A,downstream_gene_variant,,ENST00000534374,;	623	58	49	SUCCESS
SELPLG	6404	.	GRCh37	12	109017058	109017058	+	synonymous_variant	Silent	SNP	C	C	T	rs750048286	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	65	159	0	ENST00000550948.1:c.1026G>A	p.Ala342=	p.A342=	ENST00000550948		342	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55881.1	1074	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACCGCCAG	CODON|p.A342V|c.1025C>T|3,CODON|p.A332V|c.995C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR17384:SF0,hmmpanther:PTHR17384	.	.	ENSP00000228463	.	2/2	.	.	.	.	.	.	.	.	rs750048286	2/2	PASS	ENST00000228463	Transcript	.	.	ENSG00000110876	10722	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELPL_HUMAN	SELPLG	HGNC	B4DT54_HUMAN	.	UPI0002065776	SNV	SELPLG,synonymous_variant,p.%3D,ENST00000388962,;SELPLG,synonymous_variant,p.%3D,ENST00000228463,;SELPLG,synonymous_variant,p.%3D,ENST00000550948,;	1251	159	150	SUCCESS
AQP2	359	.	GRCh37	12	50344973	50344973	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	70	1	ENST00000199280.3:c.360T>A		p.X120_splice	ENST00000199280	NM_000486.5	120	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8792.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTGTGAG	NONE	.	.	hmmpanther:PTHR19139:SF45,hmmpanther:PTHR19139,Pfam_domain:PF00230,Gene3D:1.20.1080.10,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338	.	.	ENSP00000199280	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000199280	Transcript	.	.	ENSG00000167580	634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQP2_HUMAN	AQP2	HGNC	.	.	UPI000000D9DF	SNV	AQP2,synonymous_variant,p.%3D,ENST00000550862,;AQP2,synonymous_variant,p.%3D,ENST00000199280,;RP11-469H8.6,downstream_gene_variant,,ENST00000552379,;RP11-469H8.8,downstream_gene_variant,,ENST00000552806,;RP11-469H8.6,downstream_gene_variant,,ENST00000550530,;AQP2,synonymous_variant,p.%3D,ENST00000551526,;	445	71	69	SUCCESS
OR10A7	121364	.	GRCh37	12	55615504	55615504	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	72	0	ENST00000326258.1:c.696T>A	p.Thr232=	p.T232=	ENST00000326258	NM_001005280.1	232	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31815.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGGCCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF22,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326718	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326258	Transcript	.	.	ENSG00000179919	15329	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10A7_HUMAN	OR10A7	HGNC	.	.	UPI0000041E35	SNV	OR10A7,synonymous_variant,p.%3D,ENST00000326258,;	696	72	67	SUCCESS
PTPRQ	374462	.	GRCh37	12	80935405	80935405	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749989619	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	49	0	ENST00000266688.5:c.3214C>T	p.Pro1072Ser	p.P1072S	ENST00000266688		1072	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	.	3214	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCCACCG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	26/50	.	.	.	.	.	.	.	.	rs749989619	26/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.206)	.	deleterious(0)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Pro1072Ser,ENST00000266688,;PTPRQ,downstream_gene_variant,,ENST00000547485,;PTPRQ,upstream_gene_variant,,ENST00000551624,;	3214	49	58	SUCCESS
RASSF9	9182	.	GRCh37	12	86199277	86199277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	66	0	ENST00000361228.3:c.511A>G	p.Ile171Val	p.I171V	ENST00000361228	NM_005447.3	171	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS44950.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAATTTTAG	NONE	.	.	hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10	.	.	ENSP00000354884	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000361228	Transcript	.	.	ENSG00000198774	15739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious(0.04)	.	RASF9_HUMAN	RASSF9	HGNC	.	.	UPI000003E7E4	SNV	RASSF9,missense_variant,p.Ile171Val,ENST00000361228,;	880	66	68	SUCCESS
A2M	2	.	GRCh37	12	9230420	9230420	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	109	0	ENST00000318602.7:c.3153A>C	p.Gln1051His	p.Q1051H	ENST00000318602	NM_000014.4	1051	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS44827.1	3153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCTTGGGC	NONE	.	.	hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000323929	.	26/36	.	.	.	.	.	.	.	.	COSM120136	26/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.796)	.	deleterious(0.01)	1	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	SNV	A2M,missense_variant,p.Gln1051His,ENST00000318602,;A2M,intron_variant,,ENST00000543436,;A2M,non_coding_transcript_exon_variant,,ENST00000542567,;A2M,intron_variant,,ENST00000545828,;A2M,downstream_gene_variant,,ENST00000462568,;	3461	109	87	SUCCESS
COL4A2	1284	.	GRCh37	13	111083045	111083045	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	32	46	0	ENST00000360467.5:c.648+91A>T		p.*216*	ENST00000360467	NM_001846.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41907.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGAGCTTT	NONE	.	.	.	.	.	ENSP00000353654	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODIFIER	10/47	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,intron_variant,,ENST00000360467,;COL4A2,non_coding_transcript_exon_variant,,ENST00000462309,;	.	46	49	SUCCESS
PDS5B	23047	.	GRCh37	13	33338652	33338652	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772804477	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	107	232	0	ENST00000315596.10:c.3544A>T	p.Ser1182Cys	p.S1182C	ENST00000315596	NM_015032.3	1182	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS41878.1	3544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAGTGAA	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1	.	.	ENSP00000313851	.	31/35	.	.	.	.	.	.	.	.	rs772804477	31/35	PASS	ENST00000315596	Transcript	.	.	ENSG00000083642	20418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.09)	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,missense_variant,p.Ser136Cys,ENST00000447833,;PDS5B,missense_variant,p.Ser1182Cys,ENST00000315596,;RNY1P4,upstream_gene_variant,,ENST00000384595,;PDS5B,missense_variant,p.Ser1182Cys,ENST00000450460,;	3730	232	197	SUCCESS
MYCBP2	23077	.	GRCh37	13	77671529	77671529	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	66	0	ENST00000357337.6:c.9646T>G	p.Tyr3216Asp	p.Y3216D	ENST00000357337		3216	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	.	9646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATAGGTCA	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	56/83	.	.	.	.	.	.	.	.	.	56/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Tyr3216Asp,ENST00000544440,;MYCBP2,missense_variant,p.Tyr3216Asp,ENST00000357337,;MYCBP2,missense_variant,p.Tyr3254Asp,ENST00000407578,;MYCBP2,downstream_gene_variant,,ENST00000360084,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000485061,;MYCBP2,downstream_gene_variant,,ENST00000498073,;MYCBP2,downstream_gene_variant,,ENST00000462987,;MYCBP2,downstream_gene_variant,,ENST00000482517,;	9664	66	64	SUCCESS
SCEL	8796	.	GRCh37	13	78133957	78133957	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	45	113	0	ENST00000349847.3:c.180G>A	p.Arg60=	p.R60=	ENST00000349847	NM_144777.2	60	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9459.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGGGTGGT	NONE	.	.	hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468	.	.	ENSP00000302579	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000349847	Transcript	.	.	ENSG00000136155	10573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCEL_HUMAN	SCEL	HGNC	.	.	UPI000013CFF1	SNV	SCEL,synonymous_variant,p.%3D,ENST00000377246,;SCEL,synonymous_variant,p.%3D,ENST00000349847,;SCEL,synonymous_variant,p.%3D,ENST00000535157,;SCEL,synonymous_variant,p.%3D,ENST00000471491,;	264	113	80	SUCCESS
LRP10	26020	.	GRCh37	14	23342538	23342538	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	59	125	1	ENST00000359591.4:c.98C>A	p.Ala33Glu	p.A33E	ENST00000359591	NM_014045.3	33	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS9578.1	98	RADIA|MUTECT|MUSE	.	CCCAGCAGTGC	NONE	.	.	hmmpanther:PTHR10529:SF198,hmmpanther:PTHR10529,SMART_domains:SM00042	.	.	ENSP00000352601	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000359591	Transcript	.	.	ENSG00000197324	14553	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	.	tolerated(1)	.	LRP10_HUMAN	LRP10	HGNC	Q6IAK3_HUMAN,Q66K21_HUMAN,Q5I0F9_HUMAN	.	UPI000000CC06	SNV	LRP10,missense_variant,p.Ala33Glu,ENST00000359591,;LRP10,missense_variant,p.Ala33Glu,ENST00000546834,;LRP10,upstream_gene_variant,,ENST00000551466,;LRP10,upstream_gene_variant,,ENST00000470660,;LRP10,non_coding_transcript_exon_variant,,ENST00000553002,;	789	126	143	SUCCESS
DHRS4	10901	.	GRCh37	14	24435501	24435501	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	254	229	411	1	ENST00000313250.5:c.541C>T	p.Pro181Ser	p.P181S	ENST00000313250	NM_021004.2	181	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9605.1	541	RADIA|MUTECT|VARSCANS	.	TCAGTCCTTAC	NONE	.	.	hmmpanther:PTHR24322:SF198,hmmpanther:PTHR24322,PROSITE_patterns:PS00061,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000326219	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000313250	Transcript	.	.	ENSG00000157326	16985	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.414)	.	tolerated(0.07)	.	DHRS4_HUMAN	DHRS4	HGNC	H0YLE1_HUMAN	.	UPI000003F541	SNV	DHRS4,missense_variant,p.Pro147Ser,ENST00000558581,;DHRS4,missense_variant,p.Pro129Ser,ENST00000421831,;DHRS4,missense_variant,p.Pro181Ser,ENST00000313250,;DHRS4,intron_variant,,ENST00000397075,;DHRS4,intron_variant,,ENST00000308178,;DHRS4,intron_variant,,ENST00000543741,;DHRS4,intron_variant,,ENST00000382761,;DHRS4,intron_variant,,ENST00000397074,;DHRS4,intron_variant,,ENST00000559632,;DHRS4,intron_variant,,ENST00000397073,;DHRS4,intron_variant,,ENST00000558263,;DHRS4,upstream_gene_variant,,ENST00000559975,;DHRS4L2,upstream_gene_variant,,ENST00000534993,;DHRS4L2,upstream_gene_variant,,ENST00000543805,;DHRS4-AS1,intron_variant,,ENST00000558423,;	744	413	483	SUCCESS
VIPAS39	63894	.	GRCh37	14	77895375	77895375	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	47	0	ENST00000343765.2:c.1330T>G	p.Phe444Val	p.F444V	ENST00000343765		444	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS9862.1	1330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAACTTAG	NONE	.	.	hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6,Pfam_domain:PF09787	.	.	ENSP00000452181	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000553888	Transcript	.	.	ENSG00000151445	20347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.16)	.	SPE39_HUMAN	VIPAS39	HGNC	Q6IA61_HUMAN,G3V549_HUMAN	.	UPI00000735EF	SNV	VIPAS39,missense_variant,p.Phe470Val,ENST00000556412,;VIPAS39,missense_variant,p.Phe431Val,ENST00000327028,;VIPAS39,missense_variant,p.Phe444Val,ENST00000343765,;VIPAS39,missense_variant,p.Phe395Val,ENST00000448935,;VIPAS39,missense_variant,p.Phe444Val,ENST00000553888,;VIPAS39,missense_variant,p.Phe444Val,ENST00000557658,;	1841	47	53	SUCCESS
CLMN	79789	.	GRCh37	14	95677210	95677210	+	synonymous_variant	Silent	SNP	G	G	C	rs749122559	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	57	0	ENST00000298912.4:c.615C>G	p.Gly205=	p.G205=	ENST00000298912	NM_024734.3	205	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS9933.1	615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCCATA	NONE	byFrequency	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000298912	.	7/13	.	.	.	.	.	.	.	.	rs749122559	7/13	PASS	ENST00000298912	Transcript	.	.	ENSG00000165959	19972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLMN_HUMAN	CLMN	HGNC	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN	.	UPI000006DB99	SNV	CLMN,synonymous_variant,p.%3D,ENST00000298912,;CLMN,downstream_gene_variant,,ENST00000555336,;CLMN,downstream_gene_variant,,ENST00000555615,;CLMN,upstream_gene_variant,,ENST00000556454,;	729	57	81	SUCCESS
FMN1	342184	.	GRCh37	15	33261039	33261039	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	86	1	ENST00000559047.1:c.2863C>T	p.Pro955Ser	p.P955S	ENST00000559047	NM_001277313.1	955	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS45209.1	2194	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGAGGTGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8,Superfamily_domains:SSF101447	.	.	ENSP00000333950	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.04)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.Pro955Ser,ENST00000559047,;FMN1,missense_variant,p.Pro857Ser,ENST00000561249,;FMN1,missense_variant,p.Pro732Ser,ENST00000334528,;SNORD77,upstream_gene_variant,,ENST00000391113,;	2194	87	104	SUCCESS
BAHD1	22893	.	GRCh37	15	40757560	40757560	+	synonymous_variant	Silent	SNP	G	G	A	rs151097414	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	59	0	ENST00000416165.1:c.2079G>A	p.Ser693=	p.S693=	ENST00000416165	NM_014952.3	693	tcG/tcA	0	A:0	.	.	.	.	A	S	protein_coding	YES	CCDS10058.1	2079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCGCGACA	NONE	byCluster	.	PROSITE_profiles:PS51038,hmmpanther:PTHR12505,Pfam_domain:PF01426,SMART_domains:SM00439	.	A:0.0001	ENSP00000396976	.	6/7	.	.	.	.	.	.	.	.	rs151097414	6/7	PASS	ENST00000416165	Transcript	.	.	ENSG00000140320	29153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAHD1_HUMAN	BAHD1	HGNC	.	.	UPI000013D778	SNV	BAHD1,synonymous_variant,p.%3D,ENST00000560846,;BAHD1,synonymous_variant,p.%3D,ENST00000416165,;BAHD1,synonymous_variant,p.%3D,ENST00000561234,;RP11-64K12.8,non_coding_transcript_exon_variant,,ENST00000559730,;BAHD1,non_coding_transcript_exon_variant,,ENST00000561464,;	2150	59	71	SUCCESS
TP53BP1	7158	.	GRCh37	15	43712632	43712634	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	CAG	CAG	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	105	0	ENST00000382044.4:c.4550_4552del	p.Ala1517del	p.A1517del	ENST00000382044	NM_001141980.1	1517	gCTGgg/ggg	0	.	.	.	.	.	-	AG/G	protein_coding	YES	CCDS45250.1	4550-4552	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTCCCAGCTCCG	NONE	.	.	Superfamily_domains:SSF63748,Pfam_domain:PF09038,Gene3D:2.30.30.140,hmmpanther:PTHR15321	.	.	ENSP00000371475	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000382044	Transcript	.	.	ENSG00000067369	11999	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TP53B_HUMAN	TP53BP1	HGNC	B3KVT9_HUMAN	.	UPI0000D720ED	deletion	TP53BP1,inframe_deletion,p.Ala1512del,ENST00000263801,;TP53BP1,inframe_deletion,p.Ala1467del,ENST00000382039,;TP53BP1,inframe_deletion,p.Ala1517del,ENST00000450115,;TP53BP1,inframe_deletion,p.Ala1517del,ENST00000382044,;TP53BP1,downstream_gene_variant,,ENST00000467474,;TP53BP1,intron_variant,,ENST00000571145,;TP53BP1,3_prime_UTR_variant,,ENST00000411772,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000476454,;TP53BP1,downstream_gene_variant,,ENST00000417342,;TP53BP1,upstream_gene_variant,,ENST00000434561,;	4678-4680	105	97	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45695491	45695491	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	105	0	ENST00000305560.6:c.864C>T	p.Arg288=	p.R288=	ENST00000305560	NM_024063.2	288	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10123.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGCGCCCG	NONE	.	.	hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000305494	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,synonymous_variant,p.%3D,ENST00000305560,;SPATA5L1,synonymous_variant,p.%3D,ENST00000559860,;GATM,upstream_gene_variant,,ENST00000561148,;GATM,upstream_gene_variant,,ENST00000458245,;SPATA5L1,synonymous_variant,p.%3D,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000525552,;	963	105	107	SUCCESS
VPS13C	54832	.	GRCh37	15	62155676	62155676	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	112	0	ENST00000261517.5:c.10915C>T	p.Pro3639Ser	p.P3639S	ENST00000261517	NM_020821.2	3639	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32257.1	10915	MUTECT|MUSE	.	TCCAGGAATAG	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	82/85	.	.	.	.	.	.	.	.	.	82/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.78)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Pro3639Ser,ENST00000261517,;VPS13C,missense_variant,p.Pro3596Ser,ENST00000249837,;VPS13C,downstream_gene_variant,,ENST00000395896,;VPS13C,downstream_gene_variant,,ENST00000395898,;VPS13C,non_coding_transcript_exon_variant,,ENST00000560637,;	10989	112	96	SUCCESS
LARP6	55323	.	GRCh37	15	71124687	71124687	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	48	81	0	ENST00000299213.8:c.1180A>T	p.Arg394Ter	p.R394*	ENST00000299213	NM_018357.2	394	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS32281.1	1180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTGGAAA	NONE	.	.	hmmpanther:PTHR22792:SF44,hmmpanther:PTHR22792	.	.	ENSP00000299213	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000299213	Transcript	.	.	ENSG00000166173	24012	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LARP6_HUMAN	LARP6	HGNC	K7EPD2_HUMAN	.	UPI0000073C63	SNV	LARP6,stop_gained,p.Arg394Ter,ENST00000299213,;LARP6,downstream_gene_variant,,ENST00000559316,;RP11-138H8.7,upstream_gene_variant,,ENST00000592096,;	1251	81	82	SUCCESS
PEAK1	79834	.	GRCh37	15	77474384	77474384	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	19	0	ENST00000312493.4:c.-114-2A>T		p.X38_splice	ENST00000312493	NM_024776.3	38		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42062.1	.	MUTECT|MUSE	.	CAATCTGTGGA	NONE	.	.	.	.	.	ENSP00000452796	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	HIGH	3/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,splice_acceptor_variant,,ENST00000560626,;PEAK1,splice_acceptor_variant,,ENST00000565820,;PEAK1,splice_acceptor_variant,,ENST00000558305,;PEAK1,splice_acceptor_variant,,ENST00000564328,;PEAK1,splice_acceptor_variant,,ENST00000312493,;PEAK1,splice_acceptor_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,upstream_gene_variant,,ENST00000560854,;	.	19	8	SUCCESS
KIAA1199	0	.	GRCh37	15	81225586	81225586	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs757192841	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	67	77	0	ENST00000220244.3:c.2794A>G	p.Ile932Val	p.I932V	ENST00000220244	NM_018689.1	932	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS10315.1	2794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGATTACT	NONE	.	.	Superfamily_domains:SSF51126,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	23/30	.	.	.	.	.	.	.	.	rs757192841	23/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.562)	.	tolerated(1)	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	SNV	KIAA1199,missense_variant,p.Ile932Val,ENST00000356249,;KIAA1199,missense_variant,p.Ile932Val,ENST00000220244,;KIAA1199,missense_variant,p.Ile932Val,ENST00000394685,;KIAA1199,upstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;KIAA1199,upstream_gene_variant,,ENST00000495041,;	3213	77	124	SUCCESS
BFAR	51283	.	GRCh37	16	14758825	14758825	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1481793635	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	5	128	0	ENST00000261658.2:c.1057G>A	p.Glu353Lys	p.E353K	ENST00000261658	NM_016561.2	353	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10554.1	1057	MUTECT|MUSE	.	GGTTGGAGGTC	NONE	.	.	hmmpanther:PTHR15898	.	.	ENSP00000261658	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000261658	Transcript	.	.	ENSG00000103429	17613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.089)	.	tolerated(0.05)	.	BFAR_HUMAN	BFAR	HGNC	H3BRQ5_HUMAN,H3BMY8_HUMAN	.	UPI0000072F15	SNV	BFAR,missense_variant,p.Glu228Lys,ENST00000563971,;BFAR,missense_variant,p.Glu109Lys,ENST00000562545,;BFAR,missense_variant,p.Glu68Lys,ENST00000564078,;BFAR,missense_variant,p.Glu225Lys,ENST00000426842,;BFAR,missense_variant,p.Glu46Lys,ENST00000565478,;BFAR,missense_variant,p.Glu353Lys,ENST00000261658,;BFAR,upstream_gene_variant,,ENST00000563082,;BFAR,3_prime_UTR_variant,,ENST00000563313,;BFAR,3_prime_UTR_variant,,ENST00000566710,;	1334	128	134	SUCCESS
ABCA3	21	.	GRCh37	16	2339511	2339511	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	56	0	ENST00000301732.5:c.2624G>T	p.Cys875Phe	p.C875F	ENST00000301732	NM_001089.2	875	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS10466.1	2624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCACAGAGG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98	.	.	ENSP00000301732	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated(0.05)	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,missense_variant,p.Cys817Phe,ENST00000382381,;ABCA3,missense_variant,p.Cys875Phe,ENST00000301732,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	3325	56	53	SUCCESS
SLC5A11	115584	.	GRCh37	16	24922649	24922650	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	83	38	89	0	ENST00000347898.3:c.1824_1825del	p.Cys608Ter	p.C608*	ENST00000347898	NM_052944.3	608	tGT/t	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS10625.1	1823-1824	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTAGGTGACAT	NONE	.	.	hmmpanther:PTHR11819:SF127,hmmpanther:PTHR11819	.	.	ENSP00000289932	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000347898	Transcript	.	.	ENSG00000158865	23091	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC5AB_HUMAN	SLC5A11	HGNC	H3BN85_HUMAN	.	UPI0000036161	deletion	SLC5A11,frameshift_variant,p.Cys544Ter,ENST00000539472,;SLC5A11,frameshift_variant,p.Cys538Ter,ENST00000568579,;SLC5A11,frameshift_variant,p.Cys538Ter,ENST00000545376,;SLC5A11,frameshift_variant,p.Cys573Ter,ENST00000424767,;SLC5A11,frameshift_variant,p.Cys544Ter,ENST00000565769,;SLC5A11,frameshift_variant,p.Cys573Ter,ENST00000567758,;SLC5A11,frameshift_variant,p.Cys452Ter,ENST00000569071,;SLC5A11,frameshift_variant,p.Cys452Ter,ENST00000449109,;SLC5A11,frameshift_variant,p.Cys608Ter,ENST00000347898,;SLC5A11,splice_region_variant,,ENST00000488922,;	2445-2446	89	121	SUCCESS
ABCC11	85320	.	GRCh37	16	48239436	48239436	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750505727	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	55	0	ENST00000356608.2:c.1693G>C	p.Glu565Gln	p.E565Q	ENST00000356608		565	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS10732.1	1693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCGAGCA	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF168,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000378230	.	12/29	.	.	.	.	.	.	.	.	rs750505727	12/29	PASS	ENST00000394747	Transcript	.	.	ENSG00000121270	14639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.37)	.	ABCCB_HUMAN	ABCC11	HGNC	H3BRJ2_HUMAN	.	UPI0000052711	SNV	ABCC11,missense_variant,p.Glu565Gln,ENST00000394747,;ABCC11,missense_variant,p.Glu565Gln,ENST00000394748,;ABCC11,missense_variant,p.Glu565Gln,ENST00000537808,;ABCC11,missense_variant,p.Glu565Gln,ENST00000353782,;ABCC11,missense_variant,p.Glu565Gln,ENST00000356608,;ABCC11,downstream_gene_variant,,ENST00000567385,;	2043	55	73	SUCCESS
ZNF423	23090	.	GRCh37	16	49559304	49559304	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760436403	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	131	0	ENST00000262383.2:c.3679G>A	p.Gly1227Ser	p.G1227S	ENST00000262383		1227	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32445.1	3679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCGCCCA	NONE	byFrequency	.	hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385	.	.	ENSP00000455426	.	6/8	.	.	.	.	.	.	.	.	rs760436403,COSM338195,COSM338196	6/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.069)	.	tolerated(0.32)	0,1,1	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,missense_variant,p.Gly1227Ser,ENST00000262383,;ZNF423,missense_variant,p.Gly1167Ser,ENST00000563137,;ZNF423,missense_variant,p.Gly1167Ser,ENST00000562520,;ZNF423,missense_variant,p.Gly1227Ser,ENST00000561648,;ZNF423,missense_variant,p.Gly1110Ser,ENST00000567169,;ZNF423,missense_variant,p.Gly1110Ser,ENST00000535559,;ZNF423,missense_variant,p.Gly1167Ser,ENST00000562871,;	3733	131	98	SUCCESS
RBL2	5934	.	GRCh37	16	53488597	53488597	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	48	112	0	ENST00000262133.6:c.1022A>T	p.Tyr341Phe	p.Y341F	ENST00000262133	NM_005611.3	341	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS10748.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTATGTTT	NONE	.	.	hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8	.	.	ENSP00000262133	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.06)	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,missense_variant,p.Tyr125Phe,ENST00000544545,;RBL2,missense_variant,p.Tyr341Phe,ENST00000262133,;RBL2,missense_variant,p.Tyr267Phe,ENST00000544405,;RBL2,downstream_gene_variant,,ENST00000567964,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;	1159	112	109	SUCCESS
PKD1L3	342372	.	GRCh37	16	72016082	72016082	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	118	0	ENST00000534738.1:n.1019C>G		p.*340*	ENST00000534738				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGGGATC	NONE	.	.	.	.	.	.	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000534738	Transcript	.	.	ENSG00000187008	21716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PKD1L3	HGNC	.	.	.	SNV	PKD1L3,non_coding_transcript_exon_variant,,ENST00000534738,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000335106,;	1019	118	101	SUCCESS
PLCG2	5336	.	GRCh37	16	81891876	81891876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	56	87	0	ENST00000359376.3:c.346A>G	p.Lys116Glu	p.K116E	ENST00000359376	NM_002661.3	116	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS42204.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTAAAGAG	NONE	.	.	Superfamily_domains:SSF50729,PIRSF_domain:PIRSF000952,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,PROSITE_profiles:PS50003	.	.	ENSP00000352336	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000359376	Transcript	.	.	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(1)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Lys116Glu,ENST00000359376,;PLCG2,missense_variant,p.Lys116Glu,ENST00000565054,;PLCG2,non_coding_transcript_exon_variant,,ENST00000569523,;PLCG2,non_coding_transcript_exon_variant,,ENST00000565400,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,non_coding_transcript_exon_variant,,ENST00000565020,;PLCG2,intron_variant,,ENST00000569929,;	560	87	111	SUCCESS
TLDC1	0	.	GRCh37	16	84529321	84529321	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	122	1	ENST00000343629.6:c.352G>T	p.Glu118Ter	p.E118*	ENST00000343629	NM_020947.3	118	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32498.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCTGTGG	NONE	.	.	hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF66	.	.	ENSP00000343635	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000343629	Transcript	.	.	ENSG00000140950	29325	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLDC1_HUMAN	TLDC1	HGNC	H3BUB0_HUMAN,H3BTC5_HUMAN,H3BQ13_HUMAN,B4DM09_HUMAN	.	UPI00001BBB2E	SNV	TLDC1,stop_gained,p.Glu118Ter,ENST00000343629,;TLDC1,stop_gained,p.Glu91Ter,ENST00000535580,;TLDC1,stop_gained,p.Glu118Ter,ENST00000565079,;TLDC1,downstream_gene_variant,,ENST00000565765,;TLDC1,downstream_gene_variant,,ENST00000562447,;RP11-517C16.4,non_coding_transcript_exon_variant,,ENST00000568771,;TLDC1,non_coding_transcript_exon_variant,,ENST00000561807,;TLDC1,stop_gained,p.Glu118Ter,ENST00000566995,;TLDC1,3_prime_UTR_variant,,ENST00000570036,;TLDC1,downstream_gene_variant,,ENST00000565701,;	535	123	107	SUCCESS
DNAH9	1770	.	GRCh37	17	11757663	11757663	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778690378	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	72	187	0	ENST00000262442.4:c.9851C>A	p.Pro3284His	p.P3284H	ENST00000262442	NM_001372.3	3284	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS11160.1	9851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACCCAAGC	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000262442	.	50/69	.	.	.	.	.	.	.	.	rs778690378	50/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Pro3284His,ENST00000454412,;DNAH9,missense_variant,p.Pro98His,ENST00000579703,;DNAH9,missense_variant,p.Pro3284His,ENST00000262442,;DNAH9,non_coding_transcript_exon_variant,,ENST00000578834,;	9919	187	86	SUCCESS
SLC46A1	113235	.	GRCh37	17	26732441	26732441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	56	105	0	ENST00000440501.1:c.274G>A	p.Gly92Ser	p.G92S	ENST00000440501	NM_080669.4	92	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	.	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCCACGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF43,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000395653	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000440501	Transcript	.	.	ENSG00000076351	30521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.3)	.	PCFT_HUMAN	SLC46A1	HGNC	K7EPJ7_HUMAN,J3QRF7_HUMAN,J3KTE6_HUMAN	.	UPI0000050394	SNV	SLC46A1,missense_variant,p.Gly18Ser,ENST00000581516,;SLC46A1,missense_variant,p.Gly92Ser,ENST00000440501,;SLC46A1,missense_variant,p.Gly18Ser,ENST00000584995,;SLC46A1,missense_variant,p.Gly92Ser,ENST00000321666,;SLC46A1,missense_variant,p.Gly4Ser,ENST00000584426,;SARM1,downstream_gene_variant,,ENST00000457710,;SLC46A1,upstream_gene_variant,,ENST00000582735,;CTD-2350C19.2,non_coding_transcript_exon_variant,,ENST00000580714,;CTD-2350C19.1,downstream_gene_variant,,ENST00000583956,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SLC46A1,intron_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000582345,;	370	105	117	SUCCESS
NF1	4763	.	GRCh37	17	29560090	29560090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	63	127	0	ENST00000358273.4:c.3567A>T	p.Gln1189His	p.Q1189H	ENST00000358273	NM_001042492.2	1189	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS42292.1	3567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAGGCAC	NONE	.	.	SMART_domains:SM00323,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	27/58	.	.	.	.	.	.	.	.	.	27/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Gln1189His,ENST00000358273,;NF1,missense_variant,p.Gln855His,ENST00000456735,;NF1,missense_variant,p.Gln1189His,ENST00000356175,;NF1,missense_variant,p.Gln15His,ENST00000466819,;NF1,missense_variant,p.Gln1223His,ENST00000579081,;NF1,missense_variant,p.Gln15His,ENST00000479614,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	3950	127	140	SUCCESS
UNC45B	146862	.	GRCh37	17	33504057	33504057	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1201029114	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	68	0	ENST00000268876.5:c.2053G>A	p.Glu685Lys	p.E685K	ENST00000268876	NM_173167.2	685	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS11292.1	2053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGGAGGGC	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.04)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Glu604Lys,ENST00000378449,;UNC45B,missense_variant,p.Glu683Lys,ENST00000433649,;UNC45B,missense_variant,p.Glu685Lys,ENST00000268876,;UNC45B,missense_variant,p.Glu604Lys,ENST00000591048,;UNC45B,missense_variant,p.Glu683Lys,ENST00000394570,;	2150	68	72	SUCCESS
SLFN13	146857	.	GRCh37	17	33768135	33768135	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	56	0	ENST00000285013.6:c.2173G>A	p.Glu725Lys	p.E725K	ENST00000285013	NM_144682.5	725	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS32620.1	2173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCTCTTG	NONE	.	.	hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155,Superfamily_domains:SSF52540	.	.	ENSP00000285013	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000285013	Transcript	.	.	ENSG00000154760	26481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	SLN13_HUMAN	SLFN13	HGNC	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN	.	UPI000004E65A	SNV	SLFN13,missense_variant,p.Glu725Lys,ENST00000526861,;SLFN13,missense_variant,p.Glu725Lys,ENST00000285013,;SLFN13,missense_variant,p.Glu407Lys,ENST00000360502,;SLFN13,missense_variant,p.Glu725Lys,ENST00000542635,;SLFN13,missense_variant,p.Glu407Lys,ENST00000534689,;SLFN13,missense_variant,p.Glu725Lys,ENST00000533791,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,downstream_gene_variant,,ENST00000532210,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,downstream_gene_variant,,ENST00000532774,;	2449	56	72	SUCCESS
CNTNAP1	8506	.	GRCh37	17	40835882	40835882	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	49	0	ENST00000264638.4:c.111C>A	p.Ser37=	p.S37=	ENST00000264638	NM_003632.2	37	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11436.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCCTGGG	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF584,hmmpanther:PTHR10127,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000264638	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000264638	Transcript	.	.	ENSG00000108797	8011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP1_HUMAN	CNTNAP1	HGNC	.	.	UPI00001285F6	SNV	CNTNAP1,synonymous_variant,p.%3D,ENST00000264638,;CCR10,5_prime_UTR_variant,,ENST00000591568,;CCR10,upstream_gene_variant,,ENST00000591765,;CCR10,upstream_gene_variant,,ENST00000332438,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CTD-3193K9.4,downstream_gene_variant,,ENST00000593139,;CNTNAP1,synonymous_variant,p.%3D,ENST00000591662,;CNTNAP1,upstream_gene_variant,,ENST00000586801,;	328	49	56	SUCCESS
AOC4P	90586	.	GRCh37	17	41020203	41020203	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	52	0	ENST00000566825.1:n.908C>T		p.*303*	ENST00000566825				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCCCCTG	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000566825	Transcript	.	.	ENSG00000260105	48869	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AOC4P	HGNC	.	.	.	SNV	AOC4P,non_coding_transcript_exon_variant,,ENST00000585538,;AOC4P,intron_variant,,ENST00000562301,;AOC4P,upstream_gene_variant,,ENST00000570207,;AOC4P,downstream_gene_variant,,ENST00000569586,;AOC4P,upstream_gene_variant,,ENST00000563852,;AOC4P,non_coding_transcript_exon_variant,,ENST00000566825,;	908	52	56	SUCCESS
ACBD4	79777	.	GRCh37	17	43214134	43214134	+	synonymous_variant	Silent	SNP	G	G	A	rs1340493307	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	61	0	ENST00000376955.4:c.285G>A	p.Val95=	p.V95=	ENST00000376955	NM_001135707.1	95	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45710.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGGCACA	NONE	.	.	PROSITE_profiles:PS51228,hmmpanther:PTHR23310:SF53,hmmpanther:PTHR23310,Gene3D:1.20.80.10,Pfam_domain:PF00887,Superfamily_domains:SSF47027,Prints_domain:PR00689	.	.	ENSP00000405969	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000431281	Transcript	.	.	ENSG00000181513	23337	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACBD4_HUMAN	ACBD4	HGNC	.	.	UPI000007470F	SNV	ACBD4,synonymous_variant,p.%3D,ENST00000376955,;ACBD4,synonymous_variant,p.%3D,ENST00000592162,;ACBD4,synonymous_variant,p.%3D,ENST00000431281,;ACBD4,synonymous_variant,p.%3D,ENST00000398322,;ACBD4,synonymous_variant,p.%3D,ENST00000591859,;ACBD4,synonymous_variant,p.%3D,ENST00000321854,;ACBD4,synonymous_variant,p.%3D,ENST00000586346,;PLCD3,upstream_gene_variant,,ENST00000322765,;PLCD3,upstream_gene_variant,,ENST00000538093,;PLCD3,upstream_gene_variant,,ENST00000590644,;ACBD4,non_coding_transcript_exon_variant,,ENST00000591136,;ACBD4,downstream_gene_variant,,ENST00000587976,;PLCD3,upstream_gene_variant,,ENST00000540511,;PLCD3,upstream_gene_variant,,ENST00000544446,;ACBD4,downstream_gene_variant,,ENST00000587111,;ACBD4,downstream_gene_variant,,ENST00000586279,;ACBD4,3_prime_UTR_variant,,ENST00000589798,;ACBD4,non_coding_transcript_exon_variant,,ENST00000590289,;ACBD4,non_coding_transcript_exon_variant,,ENST00000589752,;ACBD4,non_coding_transcript_exon_variant,,ENST00000585553,;	754	61	52	SUCCESS
NGFR	4804	.	GRCh37	17	47590366	47590367	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	48	0	ENST00000172229.3:c.1282_1283del	p.Ter428SerfsTer65	p.*428Sfs*65	ENST00000172229	NM_002507.3	427	GTg/g	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS11549.1	1279-1280	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCCGGTGTGAG	NONE	.	.	hmmpanther:PTHR23097:SF13,hmmpanther:PTHR23097	.	.	ENSP00000172229	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000172229	Transcript	.	.	ENSG00000064300	7809	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNR16_HUMAN	NGFR	HGNC	B4E096_HUMAN	.	UPI0000049854	deletion	NGFR,frameshift_variant,p.Ter428Ser,ENST00000172229,;NGFR,frameshift_variant,p.Ter334Ser,ENST00000504201,;RP5-1029K10.2,intron_variant,,ENST00000514506,;	1404-1405	48	70	SUCCESS
BZRAP1	0	.	GRCh37	17	56383220	56383220	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	42	0	ENST00000343736.4:c.5231C>A	p.Ser1744Ter	p.S1744*	ENST00000343736		1744	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS11605.1	5231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGACTCA	NONE	.	.	hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234	.	.	ENSP00000345824	.	27/32	.	.	.	.	.	.	.	.	.	27/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,stop_gained,p.Ser8Ter,ENST00000581675,;BZRAP1,stop_gained,p.Ser1744Ter,ENST00000343736,;BZRAP1,stop_gained,p.Ser166Ter,ENST00000580669,;BZRAP1,stop_gained,p.Ser1744Ter,ENST00000355701,;BZRAP1,stop_gained,p.Ser1684Ter,ENST00000268893,;BZRAP1,downstream_gene_variant,,ENST00000582679,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000577871,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000578511,;BZRAP1,downstream_gene_variant,,ENST00000578486,;BZRAP1,upstream_gene_variant,,ENST00000581692,;	5395	42	50	SUCCESS
BPTF	2186	.	GRCh37	17	65870972	65870972	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781047955	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	240	218	354	1	ENST00000321892.4:c.1700T>C	p.Ile567Thr	p.I567T	ENST00000321892		567	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS11673.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATTGATA	NONE	.	.	hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	4/28	.	.	.	.	.	.	.	.	rs781047955	4/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Ile567Thr,ENST00000306378,;BPTF,missense_variant,p.Ile567Thr,ENST00000321892,;BPTF,missense_variant,p.Ile567Thr,ENST00000544778,;BPTF,missense_variant,p.Ile567Thr,ENST00000335221,;BPTF,missense_variant,p.Ile428Thr,ENST00000424123,;BPTF,upstream_gene_variant,,ENST00000544491,;	1760	355	458	SUCCESS
NLGN2	57555	.	GRCh37	17	7318992	7318992	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	59	94	0	ENST00000302926.2:c.1200T>G	p.Gly400=	p.G400=	ENST00000302926	NM_020795.3	400	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS11103.1	1200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGTGTGTC	BUFFER|p.G400S|c.1198G>A|4	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF53,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000305288	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000302926	Transcript	.	.	ENSG00000169992	14290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLGN2_HUMAN	NLGN2	HGNC	.	.	UPI0000049FD2	SNV	NLGN2,synonymous_variant,p.%3D,ENST00000302926,;NLGN2,synonymous_variant,p.%3D,ENST00000575301,;NLGN2,downstream_gene_variant,,ENST00000570940,;SPEM1,upstream_gene_variant,,ENST00000323675,;RP11-104H15.7,upstream_gene_variant,,ENST00000575310,;	1273	94	73	SUCCESS
TP53	7157	.	GRCh37	17	7577610	7577610	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	39	52	0	ENST00000269305.4:c.673-2A>T		p.X225_splice	ENST00000269305	NM_001126112.2	225		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11118.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCTAGGAG	SITE|p.?|c.673-2A>T|6,SITE|p.?|c.673-2A>T|3,SITE|p.?|c.673-2A>T|4,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.D228Y|c.682G>T|3,BUFFER|p.D228N|c.682G>A|6,BUFFER|p.S227F|c.680C>T|8,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.S134P|c.400T>C|3,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.S227P|c.679T>C|3,BUFFER|p.G226D|c.677G>A|5,BUFFER|p.G226V|c.677G>T|4,BUFFER|p.V225A|c.674T>C|3,BUFFER|p.?|c.394-1G>A|7,BUFFER|p.?|c.673-1G>A|15,BUFFER|p.?|c.673-1G>T|3,BUFFER|p.?|c.673-1G>A|7,BUFFER|p.?|c.394-1G>T|3,BUFFER|p.?|c.673-1G>C|3,BUFFER|p.?|c.673-1G>T|6,BUFFER|p.?|c.673-1G>A|7,BUFFER|p.?|c.673-1G>T|3,BUFFER|p.?|c.673-2A>G|12,BUFFER|p.?|c.673-2A>G|9,BUFFER|p.?|c.394-2A>G|13,BUFFER|p.?|c.673-2A>G|9,BUFFER|p.?|c.673-2A>G|13,BUFFER|p.?|c.673-2A>G|13,BUFFER|p.?|c.673-2A>G|5	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	CS109519,TP53_g.13308A>G,TP53_g.13308A>T,TP53_g.13308A>C,COSM6908,COSM12559,COSM25225,COSM33649,COSM41575,COSM98015,COSM119001,COSM323938,COSM323937,COSM118999,COSM98016,COSM3742466,COSM1649397,COSM119000,COSM323939	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	.	52	41	SUCCESS
MC5R	4161	.	GRCh37	18	13826134	13826134	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	88	1	ENST00000324750.3:c.370A>T	p.Ile124Phe	p.I124F	ENST00000324750	NM_005913.2	124	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11868.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCATTTCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	.	.	ENSP00000318077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000324750	Transcript	.	.	ENSG00000176136	6933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.18)	.	MC5R_HUMAN	MC5R	HGNC	K7ER30_HUMAN	.	UPI0000050405	SNV	MC5R,missense_variant,p.Ile124Phe,ENST00000324750,;MC5R,missense_variant,p.Ile124Phe,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	592	89	107	SUCCESS
NEDD4L	23327	.	GRCh37	18	56033235	56033235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	68	0	ENST00000400345.3:c.1838A>T	p.Asp613Val	p.D613V	ENST00000400345	NM_001144967.2	613	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS45872.1	1838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGATATCC	NONE	.	.	hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000383199	.	21/31	.	.	.	.	.	.	.	.	.	21/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,missense_variant,p.Asp472Val,ENST00000456173,;NEDD4L,missense_variant,p.Asp473Val,ENST00000256832,;NEDD4L,missense_variant,p.Asp585Val,ENST00000586263,;NEDD4L,missense_variant,p.Asp605Val,ENST00000357895,;NEDD4L,missense_variant,p.Asp613Val,ENST00000400345,;NEDD4L,missense_variant,p.Asp492Val,ENST00000431212,;NEDD4L,missense_variant,p.Asp472Val,ENST00000435432,;NEDD4L,missense_variant,p.Asp492Val,ENST00000456986,;NEDD4L,missense_variant,p.Asp549Val,ENST00000356462,;NEDD4L,missense_variant,p.Asp277Val,ENST00000587881,;NEDD4L,missense_variant,p.Asp509Val,ENST00000256830,;NEDD4L,missense_variant,p.Asp593Val,ENST00000382850,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000585970,;NEDD4L,upstream_gene_variant,,ENST00000587246,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590638,;	2121	68	66	SUCCESS
AC139100.2	0	.	GRCh37	18	77905891	77905891	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	13	0	ENST00000586421.1:c.-151A>G		p.*51*	ENST00000586421				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TAATTAACAGT	NONE	.	.	.	.	.	ENSP00000467155	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000586421	Transcript	.	.	ENSG00000267270	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC139100.2	Clone_based_vega_gene	K7ENZ4_HUMAN	.	UPI000195170D	SNV	AC139100.2,5_prime_UTR_variant,,ENST00000586421,;AC139100.2,5_prime_UTR_variant,,ENST00000587254,;AC139100.2,upstream_gene_variant,,ENST00000585422,;AC139100.2,upstream_gene_variant,,ENST00000588226,;ADNP2,downstream_gene_variant,,ENST00000561195,;AC139100.2,upstream_gene_variant,,ENST00000589574,;	84	13	12	SUCCESS
SUGP2	10147	.	GRCh37	19	19106050	19106050	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201431527	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	56	1	ENST00000337018.6:c.3031G>A	p.Asp1011Asn	p.D1011N	ENST00000337018	NM_014884.3	1011	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12392.1	3031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATCGGTCA	NONE	byCluster	.	PROSITE_profiles:PS50174,hmmpanther:PTHR23340:SF2,hmmpanther:PTHR23340,SMART_domains:SM00443	.	.	ENSP00000472286	.	9/10	.	.	.	.	.	.	.	.	rs201431527	9/10	PASS	ENST00000601879	Transcript	.	.	ENSG00000064607	18641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.37)	.	SUGP2_HUMAN	SUGP2	HGNC	M0R065_HUMAN	.	UPI000019825D	SNV	SUGP2,missense_variant,p.Asp1011Asn,ENST00000452918,;SUGP2,missense_variant,p.Asp1011Asn,ENST00000337018,;SUGP2,missense_variant,p.Asp1011Asn,ENST00000601879,;SUGP2,missense_variant,p.Asp780Asn,ENST00000456085,;SUGP2,missense_variant,p.Asp1025Asn,ENST00000600377,;AC004447.2,downstream_gene_variant,,ENST00000594142,;SUGP2,upstream_gene_variant,,ENST00000597095,;SUGP2,upstream_gene_variant,,ENST00000597163,;SUGP2,upstream_gene_variant,,ENST00000598863,;SUGP2,missense_variant,p.Asp959Asn,ENST00000330854,;SUGP2,missense_variant,p.Asp959Asn,ENST00000594773,;SUGP2,3_prime_UTR_variant,,ENST00000598240,;SUGP2,3_prime_UTR_variant,,ENST00000593795,;SUGP2,3_prime_UTR_variant,,ENST00000597280,;SUGP2,3_prime_UTR_variant,,ENST00000600239,;	3329	57	59	SUCCESS
DMKN	93099	.	GRCh37	19	36003550	36003550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	34	77	0	ENST00000339686.3:c.569G>T	p.Gly190Val	p.G190V	ENST00000339686	NM_033317.4	190	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12463.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCCCTGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000342012	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000339686	Transcript	.	.	ENSG00000161249	25063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DMKN_HUMAN	DMKN	HGNC	R4GMQ0_HUMAN	.	UPI00002020EB	SNV	DMKN,missense_variant,p.Gly190Val,ENST00000419602,;DMKN,missense_variant,p.Gly190Val,ENST00000429837,;DMKN,missense_variant,p.Gly190Val,ENST00000424570,;DMKN,missense_variant,p.Gly190Val,ENST00000418261,;DMKN,missense_variant,p.Gly190Val,ENST00000440396,;DMKN,missense_variant,p.Gly190Val,ENST00000447113,;DMKN,missense_variant,p.Gly190Val,ENST00000451297,;DMKN,missense_variant,p.Gly190Val,ENST00000339686,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000414866,;DMKN,upstream_gene_variant,,ENST00000402589,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000436012,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000597212,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000480507,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000595571,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000488762,;	746	77	96	SUCCESS
FOXA3	3171	.	GRCh37	19	46367603	46367603	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	17	0	ENST00000302177.2:c.-112C>T		p.*38*	ENST00000302177	NM_004497.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12677.1	.	RADIA|MUTECT|MUSE	.	CCGGGCGGTCG	NONE	.	.	.	.	.	ENSP00000304004	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302177	Transcript	.	.	ENSG00000170608	5023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXA3_HUMAN	FOXA3	HGNC	M0QZW5_HUMAN	.	UPI0000000DF9	SNV	FOXA3,5_prime_UTR_variant,,ENST00000302177,;FOXA3,intron_variant,,ENST00000594297,;SYMPK,upstream_gene_variant,,ENST00000594293,;SYMPK,upstream_gene_variant,,ENST00000245934,;SYMPK,upstream_gene_variant,,ENST00000602061,;SYMPK,upstream_gene_variant,,ENST00000598059,;SYMPK,upstream_gene_variant,,ENST00000593959,;SYMPK,upstream_gene_variant,,ENST00000598896,;SYMPK,upstream_gene_variant,,ENST00000599460,;SYMPK,upstream_gene_variant,,ENST00000593504,;	86	17	12	SUCCESS
SLC8A2	6543	.	GRCh37	19	47944676	47944676	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	39	0	ENST00000236877.6:c.1785A>T	p.Ile595=	p.I595=	ENST00000236877	NM_015063.2	595	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33065.1	1785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTATCTT	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,hmmpanther:PTHR11878	.	.	ENSP00000236877	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000236877	Transcript	.	.	ENSG00000118160	11069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAC2_HUMAN	SLC8A2	HGNC	M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN	.	UPI000012FC49	SNV	SLC8A2,synonymous_variant,p.%3D,ENST00000539381,;SLC8A2,synonymous_variant,p.%3D,ENST00000542837,;SLC8A2,synonymous_variant,p.%3D,ENST00000236877,;SLC8A2,non_coding_transcript_exon_variant,,ENST00000601757,;	2181	39	59	SUCCESS
TMEM143	55260	.	GRCh37	19	48848536	48848536	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	82	149	0	ENST00000293261.3:c.445A>T	p.Asn149Tyr	p.N149Y	ENST00000293261	NM_018273.2	149	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS12716.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATTAGACA	NONE	.	.	hmmpanther:PTHR16095:SF10,hmmpanther:PTHR16095	.	.	ENSP00000293261	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000293261	Transcript	.	.	ENSG00000161558	25603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.01)	.	TM143_HUMAN	TMEM143	HGNC	M0QZ02_HUMAN	.	UPI0000070A27	SNV	TMEM143,missense_variant,p.Asn39Tyr,ENST00000541566,;TMEM143,missense_variant,p.Asn149Tyr,ENST00000293261,;TMEM143,missense_variant,p.Asn134Tyr,ENST00000601522,;TMEM143,missense_variant,p.Asn114Tyr,ENST00000435956,;TMEM143,intron_variant,,ENST00000598926,;TMEM143,intron_variant,,ENST00000436660,;TMEM143,intron_variant,,ENST00000377431,;TMEM143,non_coding_transcript_exon_variant,,ENST00000598258,;TMEM143,3_prime_UTR_variant,,ENST00000597370,;TMEM143,3_prime_UTR_variant,,ENST00000599220,;TMEM143,intron_variant,,ENST00000601332,;TMEM143,intron_variant,,ENST00000595720,;TMEM143,upstream_gene_variant,,ENST00000600816,;	762	149	176	SUCCESS
LRRC4B	94030	.	GRCh37	19	51022527	51022527	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776655225	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	18	76	0	ENST00000389201.3:c.443C>T	p.Thr148Met	p.T148M	ENST00000389201	NM_001080457.1	148	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS42595.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGTGGTC	NONE	byFrequency	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF7,Gene3D:3.80.10.10,Pfam_domain:PF13306,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000471502	.	3/3	.	.	.	.	.	.	.	.	rs776655225	3/3	PASS	ENST00000599957	Transcript	.	.	ENSG00000131409	25042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.2)	.	LRC4B_HUMAN	LRRC4B	HGNC	M0R2G0_HUMAN,A0PJJ4_HUMAN	.	UPI00000497E7	SNV	LRRC4B,missense_variant,p.Thr148Met,ENST00000389201,;LRRC4B,missense_variant,p.Thr148Met,ENST00000600381,;LRRC4B,missense_variant,p.Thr148Met,ENST00000599957,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000376916,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000601287,;	641	76	101	SUCCESS
POLRMT	5442	.	GRCh37	19	621737	621737	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1040012478	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	35	0	ENST00000588649.2:c.1961C>T	p.Pro654Leu	p.P654L	ENST00000588649	NM_005035.3	654	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12036.1	1961	RADIA|MUTECT|MUSE	.	TCCAGGGCAGC	NONE	.	.	hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102,Gene3D:1mswD01,Pfam_domain:PF14700,Superfamily_domains:SSF56672	.	.	ENSP00000465759	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000588649	Transcript	.	.	ENSG00000099821	9200	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RPOM_HUMAN	POLRMT	HGNC	.	.	UPI000013C68E	SNV	POLRMT,missense_variant,p.Pro654Leu,ENST00000588649,;HCN2,downstream_gene_variant,,ENST00000251287,;POLRMT,upstream_gene_variant,,ENST00000590336,;POLRMT,downstream_gene_variant,,ENST00000590573,;LLNLR-299G3.1,upstream_gene_variant,,ENST00000607288,;AC005559.2,upstream_gene_variant,,ENST00000591847,;POLRMT,non_coding_transcript_exon_variant,,ENST00000586384,;POLRMT,downstream_gene_variant,,ENST00000588630,;POLRMT,upstream_gene_variant,,ENST00000592633,;POLRMT,upstream_gene_variant,,ENST00000589961,;POLRMT,upstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000590709,;	2046	35	49	SUCCESS
INSR	3643	.	GRCh37	19	7152760	7152760	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	55	0	ENST00000302850.5:c.2208G>A	p.Leu736=	p.L736=	ENST00000302850	NM_000208.2	736	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12176.1	2208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGCAGGTA	NONE	.	.	hmmpanther:PTHR24416:SF140,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000620,SMART_domains:SM00060	.	.	ENSP00000303830	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000302850	Transcript	1	.	ENSG00000171105	6091	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSR_HUMAN	INSR	HGNC	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN	.	UPI000020324D	SNV	INSR,synonymous_variant,p.%3D,ENST00000302850,;INSR,synonymous_variant,p.%3D,ENST00000341500,;INSR,non_coding_transcript_exon_variant,,ENST00000598216,;	2351	55	50	SUCCESS
FCER2	2208	.	GRCh37	19	7762139	7762139	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	95	0	ENST00000346664.5:c.299A>T	p.Gln100Leu	p.Q100L	ENST00000346664	NM_001220500.1	100	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS12184.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTGCTGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF24	.	.	ENSP00000264072	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000346664	Transcript	.	.	ENSG00000104921	3612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0.03)	.	FCER2_HUMAN	FCER2	HGNC	.	.	UPI000002BEF3	SNV	FCER2,missense_variant,p.Gln100Leu,ENST00000593418,;FCER2,missense_variant,p.Gln100Leu,ENST00000597921,;FCER2,missense_variant,p.Gln100Leu,ENST00000346664,;FCER2,missense_variant,p.Gln99Leu,ENST00000360067,;FCER2,non_coding_transcript_exon_variant,,ENST00000598803,;FCER2,non_coding_transcript_exon_variant,,ENST00000597934,;FCER2,non_coding_transcript_exon_variant,,ENST00000597312,;	512	95	61	SUCCESS
KCNA3	3738	.	GRCh37	1	111216248	111216248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	63	1	ENST00000369769.2:c.1184T>A	p.Met395Lys	p.M395K	ENST00000369769	NM_002232.3	395	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS828.2	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCATGGAC	NONE	.	.	hmmpanther:PTHR11537:SF28,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000358784	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369769	Transcript	.	.	ENSG00000177272	6221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	KCNA3_HUMAN	KCNA3	HGNC	Q6P2D3_HUMAN,B2RA23_HUMAN	.	UPI000013FB79	SNV	KCNA3,missense_variant,p.Met395Lys,ENST00000369769,;	1408	64	94	SUCCESS
HIPK1	204851	.	GRCh37	1	114498222	114498222	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	267	164	328	1	ENST00000369558.1:c.1358C>T	p.Ser453Leu	p.S453L	ENST00000369558		453	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS867.1	1358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCAAAAG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058:SF43,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000358571	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,missense_variant,p.Ser59Leu,ENST00000369553,;HIPK1,missense_variant,p.Ser453Leu,ENST00000369559,;HIPK1,missense_variant,p.Ser453Leu,ENST00000369561,;HIPK1,missense_variant,p.Ser453Leu,ENST00000369558,;HIPK1,missense_variant,p.Ser453Leu,ENST00000369554,;HIPK1,missense_variant,p.Ser59Leu,ENST00000406344,;HIPK1,missense_variant,p.Ser79Leu,ENST00000340480,;HIPK1,missense_variant,p.Ser453Leu,ENST00000369555,;HIPK1,missense_variant,p.Ser453Leu,ENST00000426820,;	1590	329	431	SUCCESS
ENSA	2029	.	GRCh37	1	150598960	150598960	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	67	0	ENST00000369014.5:c.184-676G>T		p.*62*	ENST00000369014		76		0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS959.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCATCCG	NONE	.	.	hmmpanther:PTHR10358,hmmpanther:PTHR10358:SF5,Pfam_domain:PF04667	.	.	ENSP00000341743	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000339643	Transcript	.	.	ENSG00000143420	3360	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENSA_HUMAN	ENSA	HGNC	.	.	UPI00001C1A8D	SNV	ENSA,stop_gained,p.Glu76Ter,ENST00000503241,;ENSA,stop_gained,p.Glu76Ter,ENST00000369016,;ENSA,stop_gained,p.Glu72Ter,ENST00000361631,;ENSA,stop_gained,p.Glu76Ter,ENST00000339643,;ENSA,intron_variant,,ENST00000356527,;ENSA,intron_variant,,ENST00000369014,;ENSA,intron_variant,,ENST00000503345,;ENSA,intron_variant,,ENST00000369009,;ENSA,intron_variant,,ENST00000513281,;ENSA,intron_variant,,ENST00000271690,;ENSA,intron_variant,,ENST00000361532,;ENSA,downstream_gene_variant,,ENST00000362052,;ENSA,intron_variant,,ENST00000505321,;ENSA,intron_variant,,ENST00000354702,;ENSA,3_prime_UTR_variant,,ENST00000509582,;	332	67	69	SUCCESS
PIP5K1A	8394	.	GRCh37	1	151209072	151209072	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	87	1	ENST00000368888.4:c.978G>T	p.Leu326Phe	p.L326F	ENST00000368888	NM_001135638.1	326	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44219.1	978	RADIA|MUTECT|MUSE	.	CTCTTGATGTC	NONE	.	.	Superfamily_domains:SSF56104,SMART_domains:SM00330,Gene3D:1bo1A02,Pfam_domain:PF01504,hmmpanther:PTHR23086:SF16,hmmpanther:PTHR23086,PROSITE_profiles:PS51455	.	.	ENSP00000357883	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000368888	Transcript	.	.	ENSG00000143398	8994	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	PI51A_HUMAN	PIP5K1A	HGNC	P78517_HUMAN,A6PW58_HUMAN	.	UPI000006F821	SNV	PIP5K1A,missense_variant,p.Leu313Phe,ENST00000368890,;PIP5K1A,missense_variant,p.Leu27Phe,ENST00000414290,;PIP5K1A,missense_variant,p.Leu314Phe,ENST00000441902,;PIP5K1A,missense_variant,p.Leu313Phe,ENST00000349792,;PIP5K1A,missense_variant,p.Leu314Phe,ENST00000409426,;PIP5K1A,missense_variant,p.Leu326Phe,ENST00000368888,;PIP5K1A,downstream_gene_variant,,ENST00000418435,;PIP5K1A,downstream_gene_variant,,ENST00000447555,;PIP5K1A,non_coding_transcript_exon_variant,,ENST00000464105,;PIP5K1A,downstream_gene_variant,,ENST00000486048,;PIP5K1A,downstream_gene_variant,,ENST00000468772,;PIP5K1A,upstream_gene_variant,,ENST00000486866,;PIP5K1A,upstream_gene_variant,,ENST00000460157,;PIP5K1A,downstream_gene_variant,,ENST00000461816,;PIP5K1A,downstream_gene_variant,,ENST00000481713,;	1400	88	101	SUCCESS
SMCP	4184	.	GRCh37	1	152856963	152856963	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	110	206	0	ENST00000368765.3:c.65A>T	p.Gln22Leu	p.Q22L	ENST00000368765	NM_030663.2	22	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS1029.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACAGCAGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357754	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368765	Transcript	.	.	ENSG00000163206	6962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.09)	.	MCSP_HUMAN	SMCP	HGNC	Q5T7P5_HUMAN	.	UPI000012EDEB	SNV	SMCP,missense_variant,p.Gln22Leu,ENST00000368765,;	215	206	276	SUCCESS
MEF2D	4209	.	GRCh37	1	156452269	156452269	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767404406	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	54	75	0	ENST00000348159.4:c.218A>G	p.Asn73Ser	p.N73S	ENST00000348159	NM_005920.3	73	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS1143.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATTGTAC	NONE	byFrequency	.	Superfamily_domains:SSF55455,hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF23	.	.	ENSP00000271555	.	3/12	.	.	.	.	.	.	.	.	rs767404406	3/12	PASS	ENST00000348159	Transcript	.	.	ENSG00000116604	6997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	deleterious(0)	.	MEF2D_HUMAN	MEF2D	HGNC	.	.	UPI000012EEB6	SNV	MEF2D,missense_variant,p.Asn73Ser,ENST00000348159,;MEF2D,missense_variant,p.Asn73Ser,ENST00000353795,;MEF2D,missense_variant,p.Asn73Ser,ENST00000360595,;MEF2D,missense_variant,p.Asn73Ser,ENST00000464356,;MEF2D,missense_variant,p.Asn73Ser,ENST00000340875,;MEF2D,missense_variant,p.Asn73Ser,ENST00000368240,;MEF2D,downstream_gene_variant,,ENST00000489057,;Y_RNA,downstream_gene_variant,,ENST00000383924,;MEF2D,missense_variant,p.Asn73Ser,ENST00000475587,;MEF2D,upstream_gene_variant,,ENST00000493077,;	699	75	98	SUCCESS
TTC24	164118	.	GRCh37	1	156555548	156555548	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	47	69	0	ENST00000368236.3:c.1500T>A	p.Ala500=	p.A500=	ENST00000368236	NM_001105669.2	500	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS53379.1	1500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCTTCTAG	NONE	.	.	.	.	.	ENSP00000357219	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000368236	Transcript	.	.	ENSG00000187862	32348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC24_HUMAN	TTC24	HGNC	.	.	UPI0000418EC1	SNV	TTC24,synonymous_variant,p.%3D,ENST00000368236,;TTC24,synonymous_variant,p.%3D,ENST00000368237,;AL365181.1,downstream_gene_variant,,ENST00000581084,;TTC24,non_coding_transcript_exon_variant,,ENST00000478081,;TTC24,downstream_gene_variant,,ENST00000413282,;TTC24,downstream_gene_variant,,ENST00000495690,;TTC24,downstream_gene_variant,,ENST00000462049,;	1536	69	95	SUCCESS
FCRL1	115350	.	GRCh37	1	157765954	157765954	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	50	66	0	ENST00000368176.3:c.1225T>A	p.Leu409Ile	p.L409I	ENST00000368176	NM_001159398.1	409	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1170.1	1225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTAAGGAAA	NONE	.	.	hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481	.	.	ENSP00000357158	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated(0.42)	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Leu409Ile,ENST00000368176,;FCRL1,missense_variant,p.Leu408Ile,ENST00000491942,;FCRL1,synonymous_variant,p.%3D,ENST00000358292,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000495126,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;	1293	66	112	SUCCESS
IGSF8	93185	.	GRCh37	1	160063091	160063091	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773845220	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	31	110	0	ENST00000314485.7:c.935G>A	p.Gly312Asp	p.G312D	ENST00000314485	NM_052868.4	312	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1195.1	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCACCAGGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357065	.	4/7	.	.	.	.	.	.	.	.	rs773845220	4/7	PASS	ENST00000368086	Transcript	.	.	ENSG00000162729	17813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	deleterious(0.04)	.	IGSF8_HUMAN	IGSF8	HGNC	C9J8Z4_HUMAN	.	UPI0000073CBA	SNV	IGSF8,missense_variant,p.Gly312Asp,ENST00000314485,;IGSF8,missense_variant,p.Gly312Asp,ENST00000368086,;KCNJ9,downstream_gene_variant,,ENST00000368088,;IGSF8,downstream_gene_variant,,ENST00000448417,;IGSF8,downstream_gene_variant,,ENST00000460351,;	1152	110	141	SUCCESS
RASAL2	9462	.	GRCh37	1	178427017	178427017	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	9	116	0	ENST00000462775.1:c.2167G>T	p.Ala723Ser	p.A723S	ENST00000462775	NM_004841.3	723	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1321.2	2590	MUTECT|MUSE	.	AGCATGCATCT	NONE	.	.	hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF12004	.	.	ENSP00000356621	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.94)	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,missense_variant,p.Ala723Ser,ENST00000462775,;RASAL2,missense_variant,p.Ala864Ser,ENST00000367649,;RASAL2,missense_variant,p.Ala853Ser,ENST00000448150,;RASAL2,missense_variant,p.Ala274Ser,ENST00000433130,;RASAL2,non_coding_transcript_exon_variant,,ENST00000463079,;	2942	116	126	SUCCESS
AXDND1	126859	.	GRCh37	1	179347779	179347779	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	44	66	0	ENST00000367618.3:c.382T>C	p.Ser128Pro	p.S128P	ENST00000367618	NM_144696.5	128	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS30948.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTTCTTTT	NONE	.	.	hmmpanther:PTHR23052	.	.	ENSP00000356590	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000367618	Transcript	.	.	ENSG00000162779	26564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	deleterious(0)	.	AXDN1_HUMAN	AXDND1	HGNC	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	.	UPI000022AC91	SNV	AXDND1,missense_variant,p.Ser62Pro,ENST00000434088,;AXDND1,missense_variant,p.Ser128Pro,ENST00000367618,;AXDND1,missense_variant,p.Ser86Pro,ENST00000509175,;AXDND1,missense_variant,p.Ser86Pro,ENST00000511889,;AXDND1,missense_variant,p.Ser128Pro,ENST00000457238,;AXDND1,non_coding_transcript_exon_variant,,ENST00000461179,;AXDND1,non_coding_transcript_exon_variant,,ENST00000510593,;AXDND1,missense_variant,p.Ser128Pro,ENST00000511157,;	769	66	76	SUCCESS
XPR1	9213	.	GRCh37	1	180804015	180804015	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	36	55	0	ENST00000367590.4:c.1140A>T	p.Arg380=	p.R380=	ENST00000367590	NM_004736.3	380	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1340.1	1140	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCGAGTATT	NONE	.	.	Pfam_domain:PF03124,hmmpanther:PTHR10783:SF4,hmmpanther:PTHR10783	.	.	ENSP00000356562	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000367590	Transcript	.	.	ENSG00000143324	12827	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XPR1_HUMAN	XPR1	HGNC	.	.	UPI0000071111	SNV	XPR1,synonymous_variant,p.%3D,ENST00000367589,;XPR1,synonymous_variant,p.%3D,ENST00000367590,;XPR1,upstream_gene_variant,,ENST00000498177,;	1338	55	65	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200817167	200817167	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1381864217	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	57	98	0	ENST00000236925.4:c.1303G>T	p.Val435Leu	p.V435L	ENST00000236925		435	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1404.1	1270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAGTGCAT	NONE	.	.	hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595	.	.	ENSP00000351684	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.72)	.	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	SNV	CAMSAP2,missense_variant,p.Val408Leu,ENST00000413307,;CAMSAP2,missense_variant,p.Val424Leu,ENST00000358823,;CAMSAP2,missense_variant,p.Val435Leu,ENST00000236925,;CAMSAP2,intron_variant,,ENST00000447701,;	1540	99	167	SUCCESS
SUSD4	55061	.	GRCh37	1	223465815	223465815	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	12	122	0	ENST00000343846.3:c.327G>A	p.Trp109Ter	p.W109*	ENST00000343846		109	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS41471.1	327	MUTECT|MUSE	.	GGGATCCAGCC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF207,hmmpanther:PTHR19325,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000344219	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000343846	Transcript	.	.	ENSG00000143502	25470	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUSD4_HUMAN	SUSD4	HGNC	B7Z469_HUMAN	.	UPI0000205CB5	SNV	SUSD4,stop_gained,p.Trp109Ter,ENST00000344029,;SUSD4,stop_gained,p.Trp80Ter,ENST00000608996,;SUSD4,stop_gained,p.Trp109Ter,ENST00000343846,;SUSD4,stop_gained,p.Trp109Ter,ENST00000494793,;SUSD4,stop_gained,p.Trp109Ter,ENST00000366878,;SUSD4,5_prime_UTR_variant,,ENST00000454695,;SUSD4,intron_variant,,ENST00000484758,;SUSD4,non_coding_transcript_exon_variant,,ENST00000483818,;SUSD4,non_coding_transcript_exon_variant,,ENST00000497669,;SUSD4,non_coding_transcript_exon_variant,,ENST00000478605,;	961	122	197	SUCCESS
DNAH14	127602	.	GRCh37	1	225155516	225155516	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	23	0	ENST00000445597.2:c.1032+231A>T		p.*344*	ENST00000445597				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44322.1	.	MUTECT|MUSE	.	CTATCAAATAC	NONE	.	.	.	.	.	ENSP00000383737	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400952	Transcript	.	.	ENSG00000185842	2945	.	.	MODIFIER	6/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0000203FC8	SNV	DNAH14,3_prime_UTR_variant,,ENST00000366848,;DNAH14,3_prime_UTR_variant,,ENST00000366850,;DNAH14,3_prime_UTR_variant,,ENST00000433124,;DNAH14,intron_variant,,ENST00000400952,;DNAH14,intron_variant,,ENST00000430092,;DNAH14,intron_variant,,ENST00000439375,;DNAH14,intron_variant,,ENST00000366849,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,intron_variant,,ENST00000453375,;DNAH14,intron_variant,,ENST00000474127,;DNAH14,downstream_gene_variant,,ENST00000486657,;	.	23	30	SUCCESS
DNAH14	127602	.	GRCh37	1	225211433	225211433	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	186	239	2	ENST00000445597.2:c.1281A>T	p.Val427=	p.V427=	ENST00000445597		427	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44322.1	1224	RADIA|SOMATICSNIPER|VARSCANS	.	TTTGTAATGCT	NONE	.	.	hmmpanther:PTHR22645:SF1,hmmpanther:PTHR22645	.	.	ENSP00000383737	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000400952	Transcript	.	.	ENSG00000185842	2945	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0000203FC8	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000366849,;DNAH14,synonymous_variant,p.%3D,ENST00000400952,;DNAH14,synonymous_variant,p.%3D,ENST00000445597,;DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;	1426	241	334	SUCCESS
CAPN9	10753	.	GRCh37	1	230883256	230883256	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	118	144	0	ENST00000271971.2:c.14A>T	p.Tyr5Phe	p.Y5F	ENST00000271971	NM_006615.2	5	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS1586.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTACCGGG	NONE	.	.	.	.	.	ENSP00000271971	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000271971	Transcript	.	.	ENSG00000135773	1486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.23)	.	CAN9_HUMAN	CAPN9	HGNC	.	.	UPI000006E882	SNV	CAPN9,missense_variant,p.Tyr5Phe,ENST00000271971,;CAPN9,missense_variant,p.Tyr5Phe,ENST00000366666,;CAPN9,missense_variant,p.Tyr5Phe,ENST00000354537,;RP11-99J16__A.2,intron_variant,,ENST00000412344,;	127	144	226	SUCCESS
PCNXL2	0	.	GRCh37	1	233297033	233297033	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	93	205	0	ENST00000258229.9:c.3350T>A	p.Val1117Glu	p.V1117E	ENST00000258229	NM_014801.3	1117	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS44335.1	3350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATACAGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Val250Glu,ENST00000488780,;PCNXL2,missense_variant,p.Val1117Glu,ENST00000258229,;PCNXL2,upstream_gene_variant,,ENST00000484347,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000467336,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000496510,;PCNXL2,upstream_gene_variant,,ENST00000520463,;PCNXL2,missense_variant,p.Val38Glu,ENST00000486012,;PCNXL2,missense_variant,p.Val139Glu,ENST00000462233,;PCNXL2,3_prime_UTR_variant,,ENST00000475463,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000498302,;	3585	205	262	SUCCESS
GNG4	2786	.	GRCh37	1	235747052	235747052	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	64	0	ENST00000366597.1:c.87G>A	p.Met29Ile	p.M29I	ENST00000366597		29	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1607.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCATACA	NONE	.	.	PROSITE_profiles:PS50058,hmmpanther:PTHR13809,hmmpanther:PTHR13809:SF21,Gene3D:4.10.260.10,Pfam_domain:PF00631,SMART_domains:SM00224,Superfamily_domains:SSF48670,Prints_domain:PR00321	.	.	ENSP00000375727	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000391854	Transcript	.	.	ENSG00000168243	4407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	GBG4_HUMAN	GNG4	HGNC	B1APZ0_HUMAN	.	UPI000012B22C	SNV	GNG4,missense_variant,p.Met29Ile,ENST00000366598,;GNG4,missense_variant,p.Met29Ile,ENST00000366597,;GNG4,missense_variant,p.Met29Ile,ENST00000391854,;GNG4,missense_variant,p.Met29Ile,ENST00000450593,;GNG4,non_coding_transcript_exon_variant,,ENST00000484517,;	541	64	74	SUCCESS
RPS6KA1	6195	.	GRCh37	1	26887597	26887597	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	38	64	2	ENST00000374168.2:c.1403A>T	p.Gln468Leu	p.Q468L	ENST00000374168	NM_002953.3	468	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS30649.1	1430	SOMATICSNIPER|VARSCANS	.	TGGCCAGCACC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000435412	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000531382	Transcript	.	.	ENSG00000117676	10430	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.07)	.	deleterious(0.04)	.	KS6A1_HUMAN	RPS6KA1	HGNC	E9PMM7_HUMAN	.	UPI000046D37A	SNV	RPS6KA1,missense_variant,p.Gln452Leu,ENST00000530003,;RPS6KA1,missense_variant,p.Gln84Leu,ENST00000403732,;RPS6KA1,missense_variant,p.Gln376Leu,ENST00000374162,;RPS6KA1,missense_variant,p.Gln468Leu,ENST00000374168,;RPS6KA1,missense_variant,p.Gln457Leu,ENST00000374166,;RPS6KA1,missense_variant,p.Gln477Leu,ENST00000531382,;RPS6KA1,missense_variant,p.Gln376Leu,ENST00000526792,;RPS6KA1,downstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;	1479	66	64	SUCCESS
EPHA10	284656	.	GRCh37	1	38197219	38197219	+	synonymous_variant	Silent	SNP	T	T	C	rs755623091	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	68	0	ENST00000373048.4:c.1527A>G	p.Thr509=	p.T509=	ENST00000373048	NM_001099439.1	509	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41305.1	1527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTGTCTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000362139	.	7/17	.	.	.	.	.	.	.	.	rs755623091	7/17	PASS	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,synonymous_variant,p.%3D,ENST00000540011,;EPHA10,synonymous_variant,p.%3D,ENST00000373048,;EPHA10,synonymous_variant,p.%3D,ENST00000330210,;EPHA10,synonymous_variant,p.%3D,ENST00000427468,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,synonymous_variant,p.%3D,ENST00000534097,;EPHA10,synonymous_variant,p.%3D,ENST00000437645,;EPHA10,3_prime_UTR_variant,,ENST00000525749,;EPHA10,upstream_gene_variant,,ENST00000432874,;	1527	68	73	SUCCESS
LRRC7	57554	.	GRCh37	1	70541979	70541979	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	111	151	0	ENST00000035383.5:c.4336C>G	p.Gln1446Glu	p.Q1446E	ENST00000035383	NM_020794.2	1446	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS645.1	4336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCAGGTG	NONE	.	.	Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000035383	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	tolerated(0.57)	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Gln730Glu,ENST00000415775,;LRRC7,missense_variant,p.Gln1446Glu,ENST00000035383,;LRRC7,missense_variant,p.Gln1404Glu,ENST00000310961,;	4366	151	174	SUCCESS
FNBP1L	54874	.	GRCh37	1	94012443	94012443	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	162	233	1	ENST00000271234.7:c.1319A>T	p.Gln440Leu	p.Q440L	ENST00000271234	NM_001164473.2	440	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS53343.1	1319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAAATGG	NONE	.	.	hmmpanther:PTHR12602,hmmpanther:PTHR12602:SF35	.	.	ENSP00000271234	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000271234	Transcript	.	.	ENSG00000137942	20851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.428)	.	deleterious(0)	.	.	FNBP1L	HGNC	J3QSS4_HUMAN,B4DSW1_HUMAN,B4DSI7_HUMAN,B4DKY5_HUMAN	.	UPI0001B25604	SNV	FNBP1L,missense_variant,p.Gln440Leu,ENST00000271234,;FNBP1L,missense_variant,p.Gln382Leu,ENST00000370253,;FNBP1L,missense_variant,p.Gln382Leu,ENST00000260506,;FNBP1L,missense_variant,p.Gln440Leu,ENST00000604705,;FNBP1L,missense_variant,p.Gln286Leu,ENST00000424449,;FNBP1L,missense_variant,p.Gln435Leu,ENST00000370256,;FNBP1L,non_coding_transcript_exon_variant,,ENST00000603526,;	1470	234	251	SUCCESS
DEFB126	81623	.	GRCh37	20	126074	126074	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	37	125	1	ENST00000382398.3:c.77A>G	p.Lys26Arg	p.K26R	ENST00000382398	NM_030931.3	26	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS12990.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAGTGTC	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF0,Pfam_domain:PF13841	.	.	ENSP00000371835	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382398	Transcript	.	.	ENSG00000125788	15900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.48)	.	DB126_HUMAN	DEFB126	HGNC	.	.	UPI000013CBC7	SNV	DEFB126,missense_variant,p.Lys26Arg,ENST00000382398,;DEFB126,non_coding_transcript_exon_variant,,ENST00000542572,;	337	126	134	SUCCESS
SIRPG	55423	.	GRCh37	20	1616155	1616155	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	106	173	0	ENST00000303415.3:c.839G>T	p.Ser280Ile	p.S280I	ENST00000303415	NM_018556.3	280	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS13020.2	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGCTCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000305529	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303415	Transcript	.	.	ENSG00000089012	15757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.15)	.	SIRPG_HUMAN	SIRPG	HGNC	.	.	UPI00001AE5FD	SNV	SIRPG,missense_variant,p.Ser247Ile,ENST00000381580,;SIRPG,missense_variant,p.Ser280Ile,ENST00000303415,;SIRPG,intron_variant,,ENST00000381583,;SIRPG,intron_variant,,ENST00000216927,;SIRPG,intron_variant,,ENST00000344103,;RP11-77C3.3,intron_variant,,ENST00000456177,;RP11-77C3.3,intron_variant,,ENST00000437384,;SIRPG,upstream_gene_variant,,ENST00000497407,;SIRPG,upstream_gene_variant,,ENST00000478145,;	904	173	212	SUCCESS
EPB41L1	2036	.	GRCh37	20	34810266	34810266	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371978327	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	63	0	ENST00000338074.2:c.2587G>A	p.Val863Ile	p.V863I	ENST00000338074	NM_012156.2	863	Gta/Ata	0	A:0	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS13271.1	2587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGTATAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF7,Pfam_domain:PF05902,PIRSF_domain:PIRSF002304	A:0	A:0.0001	ENSP00000337168	A:0.001	21/22	.	.	.	.	.	.	.	.	rs371978327,COSM172440	21/22	PASS	ENST00000338074	Transcript	1	A:0.0002	ENSG00000088367	3378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	A:0	deleterious(0)	0,1	E41L1_HUMAN	EPB41L1	HGNC	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN	.	UPI0000129AF8	SNV	EPB41L1,missense_variant,p.Val101Ile,ENST00000432603,;EPB41L1,missense_variant,p.Val863Ile,ENST00000338074,;EPB41L1,missense_variant,p.Val754Ile,ENST00000373950,;EPB41L1,missense_variant,p.Val862Ile,ENST00000373941,;EPB41L1,missense_variant,p.Val761Ile,ENST00000202028,;EPB41L1,missense_variant,p.Val683Ile,ENST00000373946,;EPB41L1,missense_variant,p.Val761Ile,ENST00000441639,;EPB41L1,downstream_gene_variant,,ENST00000451082,;EPB41L1,downstream_gene_variant,,ENST00000454226,;	2748	63	57	SUCCESS
CHGB	1114	.	GRCh37	20	5903869	5903869	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	59	0	ENST00000378961.4:c.1079A>T	p.Glu360Val	p.E360V	ENST00000378961	NM_001819.2	360	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13092.1	1079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGAGCGCT	NONE	.	.	Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583,Low_complexity_(Seg):seg	.	.	ENSP00000368244	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000378961	Transcript	.	.	ENSG00000089199	1930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.17)	.	SCG1_HUMAN	CHGB	HGNC	.	.	UPI000013C63D	SNV	CHGB,missense_variant,p.Glu360Val,ENST00000378961,;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	1283	59	73	SUCCESS
ZBTB46	140685	.	GRCh37	20	62378586	62378586	+	synonymous_variant	Silent	SNP	C	C	A	rs745842346	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	93	0	ENST00000245663.4:c.1467G>T	p.Val489=	p.V489=	ENST00000245663	NM_025224.3	489	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13538.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCACGCT	NONE	byFrequency	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118,SMART_domains:SM00355	.	.	ENSP00000245663	.	5/5	.	.	.	.	.	.	.	.	rs745842346	5/5	PASS	ENST00000245663	Transcript	.	.	ENSG00000130584	16094	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT46_HUMAN	ZBTB46	HGNC	.	.	UPI0000206406	SNV	ZBTB46,synonymous_variant,p.%3D,ENST00000302995,;ZBTB46,synonymous_variant,p.%3D,ENST00000395104,;ZBTB46,synonymous_variant,p.%3D,ENST00000245663,;SLC2A4RG,downstream_gene_variant,,ENST00000266077,;RP4-583P15.10,downstream_gene_variant,,ENST00000447343,;RP4-583P15.10,downstream_gene_variant,,ENST00000433905,;SLC2A4RG,downstream_gene_variant,,ENST00000473157,;SLC2A4RG,downstream_gene_variant,,ENST00000493772,;SLC2A4RG,downstream_gene_variant,,ENST00000496425,;SLC2A4RG,downstream_gene_variant,,ENST00000482718,;SLC2A4RG,downstream_gene_variant,,ENST00000485897,;SLC2A4RG,downstream_gene_variant,,ENST00000491109,;	1618	94	81	SUCCESS
ATP6V1E1	529	.	GRCh37	22	18095625	18095625	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	280	73	334	0	ENST00000253413.5:c.229A>G	p.Asn77Asp	p.N77D	ENST00000253413	NM_001696.3	77	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS13745.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATTCATCA	NONE	.	.	Pfam_domain:PF01991,hmmpanther:PTHR11583,hmmpanther:PTHR11583:SF2,HAMAP:MF_00311	.	.	ENSP00000253413	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000253413	Transcript	.	.	ENSG00000131100	857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	VATE1_HUMAN	ATP6V1E1	HGNC	Q53Y06_HUMAN	.	UPI0000000C60	SNV	ATP6V1E1,missense_variant,p.Asn55Asp,ENST00000399798,;ATP6V1E1,missense_variant,p.Asn77Asp,ENST00000253413,;ATP6V1E1,missense_variant,p.Asn78Asp,ENST00000413576,;ATP6V1E1,missense_variant,p.Asn77Asp,ENST00000399796,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000478963,;ATP6V1E1,downstream_gene_variant,,ENST00000460085,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000484653,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000481365,;	412	334	353	SUCCESS
CDC45	8318	.	GRCh37	22	19492943	19492943	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1324368416	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	55	0	ENST00000263201.1:c.763C>T	p.Arg255Trp	p.R255W	ENST00000263201	NM_003504.4	255	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54499.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCGGAAC	NONE	.	.	hmmpanther:PTHR10507,hmmpanther:PTHR10507:SF0,Pfam_domain:PF02724	.	.	ENSP00000405726	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000437685	Transcript	.	.	ENSG00000093009	1739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.04)	.	CDC45_HUMAN	CDC45	HGNC	C9K087_HUMAN	.	UPI000042153E	SNV	CDC45,missense_variant,p.Arg255Trp,ENST00000407835,;CDC45,missense_variant,p.Arg255Trp,ENST00000263201,;CDC45,missense_variant,p.Arg209Trp,ENST00000404724,;CDC45,missense_variant,p.Arg287Trp,ENST00000437685,;CDC45,non_coding_transcript_exon_variant,,ENST00000471470,;CDC45,downstream_gene_variant,,ENST00000428937,;	937	55	67	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	35	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	35	36	SUCCESS
PKDREJ	10343	.	GRCh37	22	46654515	46654515	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146810625	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	65	119	0	ENST00000253255.5:c.4705C>T	p.Arg1569Trp	p.R1569W	ENST00000253255	NM_006071.1	1569	Cgg/Tgg	0	A:0	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS14073.1	4705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGGGGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877	A:0	A:0.0006	ENSP00000253255	A:0	1/1	.	.	.	.	.	.	.	.	rs146810625,COSM3673297	1/1	PASS	ENST00000253255	Transcript	.	A:0.0002	ENSG00000130943	9015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.007)	A:0	tolerated(0.13)	0,1	PKDRE_HUMAN	PKDREJ	HGNC	A6MW40_HUMAN	.	UPI0000031D01	SNV	PKDREJ,missense_variant,p.Arg1569Trp,ENST00000253255,;	4705	119	156	SUCCESS
ERCC3	2071	.	GRCh37	2	128044277	128044277	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	28	0	ENST00000285398.2:c.1342+2T>C		p.X448_splice	ENST00000285398	NM_000122.1	448		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2144.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTACCTGG	NONE	.	.	.	.	.	ENSP00000285398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000285398	Transcript	.	.	ENSG00000163161	3435	.	.	HIGH	8/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC3_HUMAN	ERCC3	HGNC	G3V1S1_HUMAN	.	UPI000013900E	SNV	ERCC3,splice_donor_variant,,ENST00000493187,;ERCC3,splice_donor_variant,,ENST00000285398,;ERCC3,downstream_gene_variant,,ENST00000456257,;ERCC3,splice_donor_variant,,ENST00000426778,;ERCC3,splice_donor_variant,,ENST00000445889,;ERCC3,downstream_gene_variant,,ENST00000494464,;ERCC3,downstream_gene_variant,,ENST00000460485,;ERCC3,downstream_gene_variant,,ENST00000462306,;	.	28	51	SUCCESS
AGPS	8540	.	GRCh37	2	178370292	178370292	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	42	0	ENST00000264167.4:c.1534G>A	p.Ala512Thr	p.A512T	ENST00000264167	NM_003659.3	512	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2275.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTGCATAC	NONE	.	.	hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF3,Pfam_domain:PF02913,Superfamily_domains:SSF55103	.	.	ENSP00000264167	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000264167	Transcript	.	.	ENSG00000018510	327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	ADAS_HUMAN	AGPS	HGNC	Q53SN7_HUMAN,Q53SG6_HUMAN,Q53S12_HUMAN,B7Z3Q4_HUMAN	.	UPI00001254E8	SNV	AGPS,missense_variant,p.Ala512Thr,ENST00000264167,;AGPS,intron_variant,,ENST00000409888,;	1680	42	60	SUCCESS
TTN	7273	.	GRCh37	2	179407205	179407205	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	74	0	ENST00000591111.1:c.92355G>A	p.Leu30785=	p.L30785=	ENST00000591111		30785	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS59435.1	97278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCCAATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	349/363	.	.	.	.	.	.	.	.	.	349/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000589391,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000592182,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000591466,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000585358,;TTN-AS1,downstream_gene_variant,,ENST00000450692,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000588244,;TTN-AS1,downstream_gene_variant,,ENST00000588804,;TTN-AS1,downstream_gene_variant,,ENST00000585487,;	97503	74	120	SUCCESS
TTN	7273	.	GRCh37	2	179465992	179465992	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	99	123	0	ENST00000591111.1:c.50809T>A	p.Tyr16937Asn	p.Y16937N	ENST00000591111		16937	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS59435.1	55732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACATATCG	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	287/363	.	.	.	.	.	.	.	.	.	287/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr9638Asn,ENST00000359218,;TTN,missense_variant,p.Tyr16937Asn,ENST00000591111,;TTN,missense_variant,p.Tyr18578Asn,ENST00000589042,;TTN,missense_variant,p.Tyr9705Asn,ENST00000342175,;TTN,missense_variant,p.Tyr16010Asn,ENST00000342992,;TTN,missense_variant,p.Tyr9513Asn,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;	55957	123	193	SUCCESS
RTN4	57142	.	GRCh37	2	55253108	55253108	+	synonymous_variant	Silent	SNP	A	A	T	rs747941397	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	27	0	ENST00000337526.6:c.2127T>A	p.Ala709=	p.A709=	ENST00000337526	NM_020532.4	709	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42684.1	2127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGCAGA	NONE	.	.	hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994	.	.	ENSP00000337838	.	3/9	.	.	.	.	.	.	.	.	rs747941397	3/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,synonymous_variant,p.%3D,ENST00000404909,;RTN4,synonymous_variant,p.%3D,ENST00000405240,;RTN4,synonymous_variant,p.%3D,ENST00000354474,;RTN4,synonymous_variant,p.%3D,ENST00000337526,;RTN4,synonymous_variant,p.%3D,ENST00000357376,;RTN4,synonymous_variant,p.%3D,ENST00000394611,;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000357732,;RTN4,intron_variant,,ENST00000438462,;RTN4,intron_variant,,ENST00000317610,;RTN4,downstream_gene_variant,,ENST00000427710,;	2371	27	33	SUCCESS
PROKR1	10887	.	GRCh37	2	68872822	68872822	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	25	0	ENST00000303786.3:c.-132C>T		p.*44*	ENST00000303786				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1889.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCCCAAAG	NONE	.	.	.	.	.	ENSP00000303775	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000303786	Transcript	.	.	ENSG00000169618	4524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKR1_HUMAN	PROKR1	HGNC	.	.	UPI000003EAA7	SNV	PROKR1,5_prime_UTR_variant,,ENST00000303786,;PROKR1,upstream_gene_variant,,ENST00000394342,;	289	25	19	SUCCESS
FUNDC2P2	388965	.	GRCh37	2	84518427	84518428	+	non_coding_transcript_exon_variant	RNA	DEL	GT	GT	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	46	0	ENST00000538499.1:n.622_623delinsC		p.*208*	ENST00000538499				0	.	.	.	.	.	C	.	transcribed_processed_pseudogene	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTCCTGGTTTTTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000538499	Transcript	.	.	ENSG00000182814	17247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FUNDC2P2	HGNC	.	.	.	substitution	FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000331369,;FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000538499,;FUNDC2P2,downstream_gene_variant,,ENST00000443452,;	622-623	46	62	SUCCESS
DPPA4	55211	.	GRCh37	3	109050838	109050838	+	synonymous_variant	Silent	SNP	G	G	A	rs1169479278	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	80	0	ENST00000335658.6:c.219C>T	p.Pro73=	p.P73=	ENST00000335658	NM_018189.3	73	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33814.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTGGGGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF8	.	.	ENSP00000335306	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000335658	Transcript	.	.	ENSG00000121570	19200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPPA4_HUMAN	DPPA4	HGNC	C9J7A7_HUMAN	.	UPI000022C153	SNV	DPPA4,synonymous_variant,p.%3D,ENST00000335658,;DPPA4,synonymous_variant,p.%3D,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000463966,;DPPA4,non_coding_transcript_exon_variant,,ENST00000478791,;DPPA4,missense_variant,p.Pro49Leu,ENST00000495679,;DPPA4,non_coding_transcript_exon_variant,,ENST00000487299,;DPPA4,downstream_gene_variant,,ENST00000489281,;DPPA4,upstream_gene_variant,,ENST00000475135,;	274	80	71	SUCCESS
ITGB5	3693	.	GRCh37	3	124540273	124540273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	39	70	0	ENST00000296181.4:c.829A>G	p.Thr277Ala	p.T277A	ENST00000296181	NM_002213.3	277	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3030.1	829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGTTGTGA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00327,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	.	.	ENSP00000296181	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	deleterious(0)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Thr74Ala,ENST00000496703,;ITGB5,missense_variant,p.Thr277Ala,ENST00000296181,;ITGB5,missense_variant,p.Thr12Ala,ENST00000481591,;ITGB5,intron_variant,,ENST00000488466,;ITGB5,non_coding_transcript_exon_variant,,ENST00000476988,;ITGB5,3_prime_UTR_variant,,ENST00000465464,;	1126	70	66	SUCCESS
ACTR8	93973	.	GRCh37	3	53916141	53916141	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	57	2	ENST00000335754.3:c.-13G>A		p.*5*	ENST00000335754	NM_022899.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2875.1	.	SOMATICSNIPER|VARSCANS	.	GGAGACACCCA	NONE	.	.	.	.	.	ENSP00000336842	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000335754	Transcript	.	.	ENSG00000113812	14672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARP8_HUMAN	ACTR8	HGNC	C9J7L6_HUMAN	.	UPI000013C95B	SNV	ACTR8,5_prime_UTR_variant,,ENST00000335754,;SELK,downstream_gene_variant,,ENST00000541726,;ACTR8,upstream_gene_variant,,ENST00000231909,;ACTR8,upstream_gene_variant,,ENST00000486794,;SELK,downstream_gene_variant,,ENST00000495461,;ACTR8,upstream_gene_variant,,ENST00000498740,;ACTR8,upstream_gene_variant,,ENST00000482349,;AC012467.1,downstream_gene_variant,,ENST00000410956,;SELK,downstream_gene_variant,,ENST00000488746,;	89	59	68	SUCCESS
FEZF2	55079	.	GRCh37	3	62357731	62357731	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	40	0	ENST00000283268.3:c.813T>C	p.Asp271=	p.D271=	ENST00000283268	NM_018008.3	271	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS2897.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATCTGC	NONE	.	.	hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228	.	.	ENSP00000283268	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,synonymous_variant,p.%3D,ENST00000283268,;FEZF2,synonymous_variant,p.%3D,ENST00000475839,;FEZF2,synonymous_variant,p.%3D,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	1108	40	67	SUCCESS
KIAA1109	84162	.	GRCh37	4	123184690	123184690	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	126	0	ENST00000264501.4:c.7076G>A	p.Gly2359Asp	p.G2359D	ENST00000264501		2359	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS43267.1	7076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGTAATC	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	44/86	.	.	.	.	.	.	.	.	.	44/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Gly2359Asp,ENST00000455637,;KIAA1109,missense_variant,p.Gly932Asp,ENST00000446180,;KIAA1109,missense_variant,p.Gly2359Asp,ENST00000264501,;KIAA1109,missense_variant,p.Gly2359Asp,ENST00000388738,;KIAA1109,missense_variant,p.Gly317Asp,ENST00000419325,;	7449	126	103	SUCCESS
UCP1	7350	.	GRCh37	4	141481162	141481162	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	56	0	ENST00000262999.3:c.812T>A	p.Leu271Ter	p.L271*	ENST00000262999	NM_021833.4	271	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS3753.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCAACCTA	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF210,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000262999	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262999	Transcript	.	.	ENSG00000109424	12517	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCP1_HUMAN	UCP1	HGNC	Q4KMT7_HUMAN	.	UPI000003627B	SNV	UCP1,stop_gained,p.Leu271Ter,ENST00000262999,;	888	56	41	SUCCESS
HHIP	64399	.	GRCh37	4	145580875	145580875	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200798148	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	52	118	0	ENST00000296575.3:c.716C>T	p.Ser239Leu	p.S239L	ENST00000296575	NM_022475.2	239	tCg/tTg	0	T:0	T:0	.	T:0	.	T	S/L	protein_coding	YES	CCDS3762.1	716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCGCAAC	NONE	byCluster|by1000G	.	Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27	T:0.001	T:0.0001	ENSP00000296575	T:0	4/13	.	.	.	.	.	.	.	.	rs200798148	4/13	PASS	ENST00000296575	Transcript	1	T:0.0002	ENSG00000164161	14866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	T:0	deleterious(0)	.	HHIP_HUMAN	HHIP	HGNC	.	.	UPI0000071302	SNV	HHIP,missense_variant,p.Ser239Leu,ENST00000296575,;HHIP,missense_variant,p.Ser239Leu,ENST00000434550,;HHIP-AS1,non_coding_transcript_exon_variant,,ENST00000512359,;HHIP,non_coding_transcript_exon_variant,,ENST00000511314,;HHIP,non_coding_transcript_exon_variant,,ENST00000509630,;HHIP,non_coding_transcript_exon_variant,,ENST00000505891,;HHIP,downstream_gene_variant,,ENST00000515080,;	1371	118	88	SUCCESS
KIAA0922	0	.	GRCh37	4	154502619	154502619	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	113	1	ENST00000409959.3:c.799G>C	p.Glu267Gln	p.E267Q	ENST00000409959	NM_001131007.1	267	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS47148.1	799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGAAAAC	NONE	.	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF2	.	.	ENSP00000386787	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000409959	Transcript	.	.	ENSG00000121210	29146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	tolerated(0.09)	.	T131L_HUMAN	KIAA0922	HGNC	D3DP10_HUMAN	.	UPI00017BE9AB	SNV	KIAA0922,missense_variant,p.Glu267Gln,ENST00000409663,;KIAA0922,missense_variant,p.Glu267Gln,ENST00000440693,;KIAA0922,missense_variant,p.Glu267Gln,ENST00000409959,;KIAA0922,missense_variant,p.Glu128Gln,ENST00000240487,;KIAA0922,upstream_gene_variant,,ENST00000509565,;	848	114	100	SUCCESS
AGA	175	.	GRCh37	4	178358643	178358643	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373865451	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	31	140	0	ENST00000264595.2:c.538G>A	p.Gly180Arg	p.G180R	ENST00000264595	NM_001171988.1	180	Gga/Aga	0	T:0.0002	.	.	.	.	T	G/R	protein_coding	YES	CCDS3829.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	GGGTCCGCAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF6,Pfam_domain:PF01112,Superfamily_domains:SSF56235	.	T:0	ENSP00000264595	.	5/9	.	.	.	.	.	.	.	.	rs373865451	5/9	PASS	ENST00000264595	Transcript	1	.	ENSG00000038002	318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	ASPG_HUMAN	AGA	HGNC	Q6LD43_HUMAN	.	UPI000013D53C	SNV	AGA,missense_variant,p.Gly180Arg,ENST00000264595,;AGA,missense_variant,p.Gly79Arg,ENST00000510635,;AGA,missense_variant,p.Gly65Arg,ENST00000502310,;AGA,non_coding_transcript_exon_variant,,ENST00000506853,;AGA,non_coding_transcript_exon_variant,,ENST00000510955,;AGA,downstream_gene_variant,,ENST00000511231,;	666	140	114	SUCCESS
UCHL1	7345	.	GRCh37	4	41259714	41259714	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758047620	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	34	63	1	ENST00000284440.4:c.134C>T	p.Pro45Leu	p.P45L	ENST00000284440	NM_004181.4	45	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3462.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCTGCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF19,Pfam_domain:PF01088,Gene3D:3.40.532.10,Superfamily_domains:SSF54001,Prints_domain:PR00707	.	.	ENSP00000284440	.	3/9	.	.	.	.	.	.	.	.	rs758047620	3/9	PASS	ENST00000284440	Transcript	1	.	ENSG00000154277	12513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	deleterious(0)	.	UCHL1_HUMAN	UCHL1	HGNC	D6RF53_HUMAN,A6NLJ7_HUMAN	.	UPI00001379CA	SNV	UCHL1,missense_variant,p.Pro45Leu,ENST00000512788,;UCHL1,missense_variant,p.Pro45Leu,ENST00000508768,;UCHL1,missense_variant,p.Pro45Leu,ENST00000514924,;UCHL1,missense_variant,p.Pro45Leu,ENST00000503431,;UCHL1,missense_variant,p.Pro45Leu,ENST00000284440,;UCHL1-AS1,upstream_gene_variant,,ENST00000510073,;UCHL1-AS1,upstream_gene_variant,,ENST00000507190,;UCHL1,non_coding_transcript_exon_variant,,ENST00000504818,;UCHL1,missense_variant,p.Pro45Leu,ENST00000505232,;UCHL1,synonymous_variant,p.%3D,ENST00000512419,;UCHL1,non_coding_transcript_exon_variant,,ENST00000472501,;UCHL1,non_coding_transcript_exon_variant,,ENST00000381760,;UCHL1,upstream_gene_variant,,ENST00000514764,;UCHL1,upstream_gene_variant,,ENST00000510566,;	278	64	60	SUCCESS
ATP8A1	10396	.	GRCh37	4	42576682	42576682	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	94	195	0	ENST00000381668.5:c.1249A>T	p.Asn417Tyr	p.N417Y	ENST00000381668	NM_006095.2	417	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS3466.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATTGCATG	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01494,Pfam_domain:PF12710,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,Prints_domain:PR00119	.	.	ENSP00000371084	.	14/37	.	.	.	.	.	.	.	.	.	14/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Asn417Tyr,ENST00000381668,;ATP8A1,missense_variant,p.Asn417Tyr,ENST00000264449,;	1481	195	148	SUCCESS
FGF5	2250	.	GRCh37	4	81188186	81188186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	11	164	0	ENST00000312465.7:c.208C>A	p.Gln70Lys	p.Q70K	ENST00000312465	NM_004464.3	70	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS34021.1	208	MUTECT|MUSE|VARSCANS	.	GCAGCCAAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF23	.	.	ENSP00000311697	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000312465	Transcript	1	.	ENSG00000138675	3683	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	tolerated(0.33)	.	FGF5_HUMAN	FGF5	HGNC	Q8NF90_HUMAN,Q8NBG6_HUMAN	.	UPI0000039721	SNV	FGF5,missense_variant,p.Gln70Lys,ENST00000456523,;FGF5,missense_variant,p.Gln70Lys,ENST00000312465,;FGF5,non_coding_transcript_exon_variant,,ENST00000380628,;FGF5,upstream_gene_variant,,ENST00000503413,;FGF5,missense_variant,p.Gln31Lys,ENST00000507780,;	434	164	129	SUCCESS
THAP9	79725	.	GRCh37	4	83829016	83829016	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	121	305	0	ENST00000302236.5:c.659A>C	p.Tyr220Ser	p.Y220S	ENST00000302236	NM_024672.4	220	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS3598.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTACTTGT	NONE	.	.	hmmpanther:PTHR10725,hmmpanther:PTHR10725:SF6	.	.	ENSP00000305533	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000302236	Transcript	.	.	ENSG00000168152	23192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0.01)	.	THAP9_HUMAN	THAP9	HGNC	.	.	UPI0000367262	SNV	THAP9,missense_variant,p.Tyr220Ser,ENST00000302236,;LIN54,downstream_gene_variant,,ENST00000505905,;THAP9,missense_variant,p.Tyr94Ser,ENST00000506208,;THAP9,3_prime_UTR_variant,,ENST00000505901,;THAP9,3_prime_UTR_variant,,ENST00000514244,;THAP9,downstream_gene_variant,,ENST00000509353,;THAP9,downstream_gene_variant,,ENST00000514440,;	710	305	223	SUCCESS
MRPS18C	51023	.	GRCh37	4	84382321	84382321	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753785951	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	80	0	ENST00000295491.4:c.400A>G	p.Lys134Glu	p.K134E	ENST00000295491	NM_016067.2	134	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3604.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTAAAGTT	NONE	.	.	hmmpanther:PTHR13479	.	.	ENSP00000295491	.	6/6	.	.	.	.	.	.	.	.	rs753785951	6/6	PASS	ENST00000295491	Transcript	.	.	ENSG00000163319	16633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0)	.	RT18C_HUMAN	MRPS18C	HGNC	.	.	UPI0000132F3B	SNV	MRPS18C,missense_variant,p.Lys105Glu,ENST00000509970,;MRPS18C,missense_variant,p.Lys106Glu,ENST00000507019,;MRPS18C,missense_variant,p.Lys134Glu,ENST00000295491,;MRPS18C,3_prime_UTR_variant,,ENST00000507349,;FAM175A,3_prime_UTR_variant,,ENST00000321945,;MRPS18C,3_prime_UTR_variant,,ENST00000505719,;FAM175A,downstream_gene_variant,,ENST00000506553,;MRPS18C,upstream_gene_variant,,ENST00000509571,;FAM175A,3_prime_UTR_variant,,ENST00000475656,;MRPS18C,non_coding_transcript_exon_variant,,ENST00000514581,;MRPS18C,non_coding_transcript_exon_variant,,ENST00000505525,;FAM175A,downstream_gene_variant,,ENST00000504777,;MRPS18C,downstream_gene_variant,,ENST00000512375,;	513	80	78	SUCCESS
MAN2A1	4124	.	GRCh37	5	109181594	109181594	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	67	0	ENST00000261483.4:c.2729T>G	p.Leu910Trp	p.L910W	ENST00000261483	NM_002372.2	910	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS34209.1	2729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATTGCCTC	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:2.70.98.30,Pfam_domain:PF07748,Superfamily_domains:SSF74650	.	.	ENSP00000261483	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Leu910Trp,ENST00000261483,;	3781	67	62	SUCCESS
WDR36	134430	.	GRCh37	5	110462533	110462533	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs79307023	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	270	100	431	0	ENST00000506538.2:c.2808C>A	p.Phe936Leu	p.F936L	ENST00000506538	NM_139281.2	936	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS4102.1	2808	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCAATCA	NONE	.	.	hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Pfam_domain:PF04192	.	.	ENSP00000423067	.	23/23	.	.	.	.	.	.	.	.	COSM1310433	23/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.123)	.	tolerated(0.71)	1	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,missense_variant,p.Phe936Leu,ENST00000513710,;WDR36,missense_variant,p.Phe936Leu,ENST00000506538,;	3381	431	370	SUCCESS
TMEM173	0	.	GRCh37	5	138857039	138857039	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	85	0	ENST00000330794.4:c.821A>G	p.Tyr274Cys	p.Y274C	ENST00000330794	NM_198282.2	274	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4215.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGTATTGT	NONE	.	.	Pfam_domain:PF15009	.	.	ENSP00000331288	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000330794	Transcript	.	.	ENSG00000184584	27962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0)	.	STING_HUMAN	TMEM173	HGNC	J3QTB1_HUMAN	.	UPI000000DC5E	SNV	TMEM173,missense_variant,p.Tyr274Cys,ENST00000330794,;TMEM173,downstream_gene_variant,,ENST00000510817,;AC138517.1,downstream_gene_variant,,ENST00000593907,;TMEM173,intron_variant,,ENST00000512606,;TMEM173,downstream_gene_variant,,ENST00000514542,;TMEM173,downstream_gene_variant,,ENST00000511850,;TMEM173,downstream_gene_variant,,ENST00000511886,;TMEM173,downstream_gene_variant,,ENST00000515507,;TMEM173,non_coding_transcript_exon_variant,,ENST00000507297,;TMEM173,non_coding_transcript_exon_variant,,ENST00000503287,;TMEM173,intron_variant,,ENST00000509573,;TMEM173,downstream_gene_variant,,ENST00000503838,;TMEM173,downstream_gene_variant,,ENST00000514119,;TMEM173,downstream_gene_variant,,ENST00000502825,;TMEM173,downstream_gene_variant,,ENST00000514348,;TMEM173,downstream_gene_variant,,ENST00000502362,;	1155	85	66	SUCCESS
ARHGAP26	23092	.	GRCh37	5	142253059	142253059	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	50	0	ENST00000274498.4:c.249A>T		p.X83_splice	ENST00000274498	NM_015071.4	83	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4277.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATAGGTAA	NONE	.	.	hmmpanther:PTHR12552:SF4,hmmpanther:PTHR12552,Pfam_domain:PF08397,Gene3D:1y2oA00,Superfamily_domains:SSF103657	.	.	ENSP00000274498	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000274498	Transcript	1	.	ENSG00000145819	17073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG26_HUMAN	ARHGAP26	HGNC	Q9HBW4_HUMAN,Q8NFJ1_HUMAN,C9J6V4_HUMAN	.	UPI0000130D6B	SNV	ARHGAP26,synonymous_variant,p.%3D,ENST00000378013,;ARHGAP26,synonymous_variant,p.%3D,ENST00000274498,;ARHGAP26,synonymous_variant,p.%3D,ENST00000378004,;ARHGAP26-AS1,upstream_gene_variant,,ENST00000434610,;ARHGAP26-AS1,upstream_gene_variant,,ENST00000433595,;ARHGAP26-AS1,upstream_gene_variant,,ENST00000432015,;ARHGAP26,upstream_gene_variant,,ENST00000475287,;	627	50	42	SUCCESS
FAT2	2196	.	GRCh37	5	150925208	150925208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	52	106	1	ENST00000261800.5:c.5480A>G	p.Glu1827Gly	p.E1827G	ENST00000261800	NM_001447.2	1827	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4317.1	5480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTCTGAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Glu1827Gly,ENST00000261800,;	5493	107	88	SUCCESS
DOCK2	1794	.	GRCh37	5	169505977	169505977	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	69	0	ENST00000256935.8:c.4995-2A>G		p.X1665_splice	ENST00000256935	NM_004946.2	1665		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4371.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAGCTTT	NONE	.	.	.	.	.	ENSP00000256935	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	HIGH	48/51	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,splice_acceptor_variant,,ENST00000540750,;DOCK2,splice_acceptor_variant,,ENST00000256935,;DOCK2,splice_acceptor_variant,,ENST00000520908,;DOCK2,splice_acceptor_variant,,ENST00000523351,;DOCK2,splice_acceptor_variant,,ENST00000519868,;DOCK2,splice_acceptor_variant,,ENST00000520450,;DOCK2,splice_acceptor_variant,,ENST00000524185,;	.	69	57	SUCCESS
RANBP17	64901	.	GRCh37	5	170720952	170720952	+	synonymous_variant	Silent	SNP	G	G	A	rs374592064	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	83	0	ENST00000523189.1:c.3009G>A	p.Arg1003=	p.R1003=	ENST00000523189	NM_022897.3	1003	agG/agA	0	T:0	.	.	.	.	A	R	protein_coding	YES	CCDS34287.1	3009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGCCTCT	NONE	byCluster	.	Gene3D:1.25.10.10,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	T:0.0001	ENSP00000427975	.	26/28	.	.	.	.	.	.	.	.	rs374592064	26/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,synonymous_variant,p.%3D,ENST00000523189,;RANBP17,non_coding_transcript_exon_variant,,ENST00000521759,;RANBP17,3_prime_UTR_variant,,ENST00000519949,;RANBP17,3_prime_UTR_variant,,ENST00000389118,;RANBP17,3_prime_UTR_variant,,ENST00000522533,;RANBP17,3_prime_UTR_variant,,ENST00000522066,;	3173	83	57	SUCCESS
FLT4	2324	.	GRCh37	5	180030295	180030295	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	111	1	ENST00000261937.6:c.3989A>G	p.Gln1330Arg	p.Q1330R	ENST00000261937	NM_182925.4	1330	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4457.1	3989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTGGCCT	BUFFER|p.Y1333H|c.3997T>C|4	.	.	.	.	.	ENSP00000261937	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious_low_confidence(0.01)	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,missense_variant,p.Gln1330Arg,ENST00000261937,;FLT4,downstream_gene_variant,,ENST00000502649,;FLT4,downstream_gene_variant,,ENST00000393347,;FLT4,non_coding_transcript_exon_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000507059,;	4068	112	122	SUCCESS
RICTOR	253260	.	GRCh37	5	38978734	38978734	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	25	0	ENST00000357387.3:c.772A>T	p.Thr258Ser	p.T258S	ENST00000357387	NM_152756.3	258	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS34148.1	772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGTATAGG	NONE	.	.	Pfam_domain:PF14664,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	9/38	.	.	.	.	.	.	.	.	.	9/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Thr258Ser,ENST00000357387,;RICTOR,missense_variant,p.Thr258Ser,ENST00000296782,;RICTOR,downstream_gene_variant,,ENST00000514735,;RICTOR,missense_variant,p.Tyr257Phe,ENST00000511516,;RICTOR,non_coding_transcript_exon_variant,,ENST00000510711,;RICTOR,downstream_gene_variant,,ENST00000513566,;	803	25	41	SUCCESS
C6	729	.	GRCh37	5	41181567	41181567	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs557023458	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	74	107	0	ENST00000263413.3:c.821del	p.Gln274ArgfsTer46	p.Q274Rfs*46	ENST00000263413	NM_001115131.2	274	cAg/cg	0	-:0.0059	C:0.0023,-:0.0023	.	C:0,-:0	.	-	Q/X	protein_coding	YES	CCDS3936.1	821	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCCCTGACTT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,PROSITE_profiles:PS51412	C:0,-:0	-:0	ENSP00000263413	C:0,-:0	7/18	.	.	.	.	.	.	.	.	rs199795699,rs557023458,CD002162	7/18	common_in_exac	ENST00000263413	Transcript	1	C:0.0006,-:0.0006	ENSG00000039537	1339	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	C:0,-:0	.	.	CO6_HUMAN	C6	HGNC	C9JX36_HUMAN,C9JC72_HUMAN	.	UPI000013D401	deletion	C6,frameshift_variant,p.Gln274ArgfsTer46,ENST00000263413,;C6,frameshift_variant,p.Gln274ArgfsTer46,ENST00000337836,;C6,non_coding_transcript_exon_variant,,ENST00000475349,;	1086	107	237	SUCCESS
PARP8	79668	.	GRCh37	5	50123821	50123821	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	51	82	1	ENST00000281631.5:c.2021G>A	p.Ser674Asn	p.S674N	ENST00000281631	NM_024615.3	674	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS3954.1	2021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAGCAGTC	NONE	.	.	Superfamily_domains:SSF56399,Gene3D:3.90.228.10,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3,PROSITE_profiles:PS51059	.	.	ENSP00000281631	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000281631	Transcript	.	.	ENSG00000151883	26124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.05)	.	PARP8_HUMAN	PARP8	HGNC	D6RGZ9_HUMAN	.	UPI0000073D19	SNV	PARP8,missense_variant,p.Ser632Asn,ENST00000503750,;PARP8,missense_variant,p.Ser632Asn,ENST00000514067,;PARP8,missense_variant,p.Ser385Asn,ENST00000514342,;PARP8,missense_variant,p.Ser674Asn,ENST00000505697,;PARP8,missense_variant,p.Ser674Asn,ENST00000281631,;PARP8,missense_variant,p.Ser653Asn,ENST00000505554,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;	2179	83	87	SUCCESS
HBS1L	10767	.	GRCh37	6	135358397	135358397	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	84	0	ENST00000367837.5:c.430+2314C>G		p.*144*	ENST00000367837	NM_006620.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5173.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTGGTTAC	NONE	.	.	.	.	.	ENSP00000356811	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367837	Transcript	.	.	ENSG00000112339	4834	.	.	MODIFIER	4/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBS1L_HUMAN	HBS1L	HGNC	E9PS53_HUMAN,E9PHZ9_HUMAN,D9YZV0_HUMAN,B7Z524_HUMAN,B7Z1K2_HUMAN	.	UPI00000372EA	SNV	HBS1L,missense_variant,p.Gln400Glu,ENST00000367822,;HBS1L,intron_variant,,ENST00000415177,;HBS1L,intron_variant,,ENST00000367824,;HBS1L,intron_variant,,ENST00000367837,;HBS1L,intron_variant,,ENST00000529882,;HBS1L,intron_variant,,ENST00000367820,;HBS1L,intron_variant,,ENST00000524715,;HBS1L,intron_variant,,ENST00000445176,;HBS1L,intron_variant,,ENST00000367826,;HBS1L,intron_variant,,ENST00000314674,;HBS1L,intron_variant,,ENST00000533274,;HBS1L,downstream_gene_variant,,ENST00000525067,;HBS1L,intron_variant,,ENST00000526100,;	.	84	76	SUCCESS
MTHFD1L	25902	.	GRCh37	6	151265723	151265723	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	43	173	0	ENST00000367321.3:c.1542A>T	p.Thr514=	p.T514=	ENST00000367321	NM_001242768.1	514	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5228.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGATAA	NONE	.	.	HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268	.	.	ENSP00000356290	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000367321	Transcript	.	.	ENSG00000120254	21055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1TM_HUMAN	MTHFD1L	HGNC	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN	.	UPI00001CE513	SNV	MTHFD1L,synonymous_variant,p.%3D,ENST00000367321,;	1816	174	152	SUCCESS
MAP3K4	4216	.	GRCh37	6	161470546	161470546	+	synonymous_variant	Silent	SNP	G	G	A	rs529204751	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	90	0	ENST00000392142.4:c.1242G>A	p.Leu414=	p.L414=	ENST00000392142	NM_005922.2	414	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34565.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGGGCAT	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	3/27	.	.	.	.	.	.	.	.	rs529204751	3/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,synonymous_variant,p.%3D,ENST00000366919,;MAP3K4,synonymous_variant,p.%3D,ENST00000348824,;MAP3K4,synonymous_variant,p.%3D,ENST00000366920,;MAP3K4,synonymous_variant,p.%3D,ENST00000392142,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,synonymous_variant,p.%3D,ENST00000544041,;MAP3K4,synonymous_variant,p.%3D,ENST00000490904,;MAP3K4,intron_variant,,ENST00000542952,;	1390	90	86	SUCCESS
MAP3K4	4216	.	GRCh37	6	161523752	161523752	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	228	433	0	ENST00000392142.4:c.3797A>T	p.Asp1266Val	p.D1266V	ENST00000392142	NM_005922.2	1266	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS34565.1	3797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGATTCAA	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	deleterious(0.02)	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,missense_variant,p.Asp1262Val,ENST00000366920,;MAP3K4,missense_variant,p.Asp1216Val,ENST00000366919,;MAP3K4,missense_variant,p.Asp1212Val,ENST00000348824,;MAP3K4,missense_variant,p.Asp1266Val,ENST00000392142,;MAP3K4,missense_variant,p.Asp1266Val,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000544733,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000541901,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000536852,;MAP3K4,downstream_gene_variant,,ENST00000543421,;	3945	433	375	SUCCESS
ZKSCAN8	7745	.	GRCh37	6	28117277	28117277	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1581523691	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	101	0	ENST00000330236.6:c.434A>G	p.His145Arg	p.H145R	ENST00000330236	NM_001278122.1	145	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4645.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTACATGGAC	NONE	.	.	hmmpanther:PTHR23226:SF64,hmmpanther:PTHR23226,SMART_domains:SM00431	.	.	ENSP00000332750	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000330236	Transcript	.	.	ENSG00000198315	12983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.24)	.	ZKSC8_HUMAN	ZKSCAN8	HGNC	.	.	UPI000013D073	SNV	ZKSCAN8,missense_variant,p.His145Arg,ENST00000457389,;ZKSCAN8,missense_variant,p.His145Arg,ENST00000330236,;ZKSCAN8,missense_variant,p.Met150Val,ENST00000606198,;ZKSCAN8,missense_variant,p.Met150Val,ENST00000536028,;	618	101	108	SUCCESS
OR5V1	81696	.	GRCh37	6	29323109	29323109	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	53	90	1	ENST00000377154.1:c.864A>T	p.Ile288=	p.I288=	ENST00000377154		288	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS4657.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATTATAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF0,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000366359	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377154	Transcript	.	.	ENSG00000243729	13972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5V1_HUMAN	OR5V1	HGNC	.	.	UPI000004186B	SNV	OR5V1,synonymous_variant,p.%3D,ENST00000543825,;OR5V1,synonymous_variant,p.%3D,ENST00000377154,;	1164	91	111	SUCCESS
OR5V1	81696	.	GRCh37	6	29324036	29324036	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	40	0	ENST00000377154.1:c.-64A>T		p.*22*	ENST00000377154				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4657.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCATATGCT	NONE	.	.	.	.	.	ENSP00000366359	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377154	Transcript	.	.	ENSG00000243729	13972	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5V1_HUMAN	OR5V1	HGNC	.	.	UPI000004186B	SNV	OR5V1,5_prime_UTR_variant,,ENST00000543825,;OR5V1,5_prime_UTR_variant,,ENST00000377154,;	237	40	51	SUCCESS
CYP21A1P	1590	.	GRCh37	6	31975626	31975626	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	113	250	1	ENST00000342991.6:n.1549G>A		p.X517_splice	ENST00000342991		517		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGGTGAC	NONE	.	745	.	.	.	ENSP00000472615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000594256	Transcript	.	.	ENSG00000268923	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AL645922.1	Clone_based_ensembl_gene	M0R2J5_HUMAN	.	UPI0001AE71FD	SNV	AL645922.1,upstream_gene_variant,,ENST00000594256,;C4A-AS1,upstream_gene_variant,,ENST00000458633,;CYP21A1P,splice_region_variant,,ENST00000342991,;CYP21A1P,splice_region_variant,,ENST00000354927,;TNXA,downstream_gene_variant,,ENST00000507684,;	.	251	273	SUCCESS
IP6K3	117283	.	GRCh37	6	33690512	33690512	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	24	107	0	ENST00000293756.4:c.1218C>T	p.Ile406=	p.I406=	ENST00000293756	NM_054111.4	406	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34435.1	1218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGATATC	NONE	.	.	hmmpanther:PTHR12400:SF40,hmmpanther:PTHR12400,Superfamily_domains:SSF56104	.	.	ENSP00000398861	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000451316	Transcript	.	.	ENSG00000161896	17269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K3_HUMAN	IP6K3	HGNC	Q5TAQ4_HUMAN	.	UPI000013E117	SNV	IP6K3,synonymous_variant,p.%3D,ENST00000451316,;IP6K3,synonymous_variant,p.%3D,ENST00000293756,;	1754	107	121	SUCCESS
EEF1A1	1915	.	GRCh37	6	74228551	74228551	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	81	0	ENST00000309268.6:c.642G>C	p.Trp214Cys	p.W214C	ENST00000309268		214	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS4980.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCCATCC	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.355)	.	deleterious_low_confidence(0.01)	.	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Trp214Cys,ENST00000309268,;EEF1A1,missense_variant,p.Trp214Cys,ENST00000316292,;EEF1A1,missense_variant,p.Trp214Cys,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;	1634	81	76	SUCCESS
NYAP1	222950	.	GRCh37	7	100088252	100088252	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	93	189	0	ENST00000300179.2:c.2058A>G	p.Ala686=	p.A686=	ENST00000300179	NM_173564.3	686	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS5696.1	2058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGAGGG	NONE	.	.	hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15452	.	.	ENSP00000300179	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,synonymous_variant,p.%3D,ENST00000454988,;NYAP1,synonymous_variant,p.%3D,ENST00000423930,;NYAP1,synonymous_variant,p.%3D,ENST00000300179,;NYAP1,non_coding_transcript_exon_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	2217	189	208	SUCCESS
C7orf66	0	.	GRCh37	7	108524539	108524539	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	111	0	ENST00000379007.2:c.51T>G	p.Pro17=	p.P17=	ENST00000379007	NM_001024607.1	17	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34735.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGAGGTAC	NONE	.	.	.	.	.	ENSP00000368292	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000379007	Transcript	.	.	ENSG00000205174	33712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG066_HUMAN	C7orf66	HGNC	.	.	UPI0000160BC7	SNV	C7orf66,synonymous_variant,p.%3D,ENST00000379007,;	106	111	118	SUCCESS
KIAA1549	57670	.	GRCh37	7	138552742	138552742	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781660255	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	39	0	ENST00000422774.1:c.4908C>A	p.Asn1636Lys	p.N1636K	ENST00000422774		1636	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS56513.1	4908	MUTECT|MUSE	.	GCTGAGTTGTG	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	.	.	ENSP00000416040	.	15/20	.	.	.	.	.	.	.	.	rs781660255	15/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,missense_variant,p.Asn1636Lys,ENST00000422774,;KIAA1549,missense_variant,p.Asn1586Lys,ENST00000242365,;KIAA1549,missense_variant,p.Asn1636Lys,ENST00000440172,;	4957	39	42	SUCCESS
CCDC129	0	.	GRCh37	7	31690753	31690753	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	rs766304075	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	71	0	ENST00000451887.2:c.2662-3C>A		p.X888_splice	ENST00000451887	NM_001257968.1	888		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59050.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTCAGTGC	NONE	.	.	.	.	.	ENSP00000395835	.	.	.	.	.	.	.	.	.	.	rs766304075	.	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	LOW	11/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,splice_region_variant,,ENST00000451887,;CCDC129,splice_region_variant,,ENST00000409210,;CCDC129,splice_region_variant,,ENST00000319386,;CCDC129,splice_region_variant,,ENST00000407970,;CCDC129,upstream_gene_variant,,ENST00000463693,;	.	71	77	SUCCESS
MAGI2	9863	.	GRCh37	7	77973184	77973184	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	45	167	0	ENST00000354212.4:c.1319T>G	p.Ile440Ser	p.I440S	ENST00000354212	NM_012301.3	440	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS5594.1	1319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGATGGTA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000346151	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Ile272Ser,ENST00000536571,;MAGI2,missense_variant,p.Ile440Ser,ENST00000354212,;MAGI2,missense_variant,p.Ile440Ser,ENST00000522391,;MAGI2,missense_variant,p.Ile277Ser,ENST00000535697,;MAGI2,missense_variant,p.Ile440Ser,ENST00000419488,;RPL13AP17,upstream_gene_variant,,ENST00000450028,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000520379,;RPL13AP17,upstream_gene_variant,,ENST00000428436,;RPL13AP17,upstream_gene_variant,,ENST00000414782,;	1573	167	212	SUCCESS
CYP3A7	1551	.	GRCh37	7	99328709	99328709	+	synonymous_variant	Silent	SNP	A	A	G	rs1325301133	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	36	127	1	ENST00000336374.2:c.138T>C	p.Phe46=	p.F46=	ENST00000336374	NM_000765.3	46	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS5673.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAAAAAGG	NONE	.	.	hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000337450	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000336374	Transcript	.	.	ENSG00000160870	2640	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP3A7_HUMAN	CYP3A7	HGNC	.	.	UPI000013F283	SNV	CYP3A7,synonymous_variant,p.%3D,ENST00000336374,;CYP3A7,non_coding_transcript_exon_variant,,ENST00000467776,;	141	129	120	SUCCESS
SLC35G5	83650	.	GRCh37	8	11189520	11189520	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs564055479	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	73	0	ENST00000382435.4:c.905A>T	p.His302Leu	p.H302L	ENST00000382435	NM_054028.1	302	cAt/cTt	0	.	G:0	.	G:0.0029	.	T	H/L	protein_coding	YES	CCDS5980.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCATGAGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911,Pfam_domain:PF00892,Superfamily_domains:0043518	G:0	.	ENSP00000371872	G:0	1/1	.	.	.	.	.	.	.	.	rs564055479,COSM3644146	1/1	PASS	ENST00000382435	Transcript	.	G:0.0004	ENSG00000177710	15546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.03)	G:0	tolerated(0.59)	0,1	S35G5_HUMAN	SLC35G5	HGNC	.	.	UPI0000071B8F	SNV	SLC35G5,missense_variant,p.His302Leu,ENST00000382435,;MTMR9,downstream_gene_variant,,ENST00000221086,;	1124	73	30	SUCCESS
TRPS1	7227	.	GRCh37	8	116616870	116616870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	80	0	ENST00000220888.5:c.1287G>T	p.Glu429Asp	p.E429D	ENST00000220888		429	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS6318.2	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCTCTGT	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(1)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Glu433Asp,ENST00000520276,;TRPS1,missense_variant,p.Glu429Asp,ENST00000220888,;TRPS1,missense_variant,p.Glu442Asp,ENST00000395715,;TRPS1,missense_variant,p.Glu429Asp,ENST00000519674,;TRPS1,splice_region_variant,,ENST00000517323,;TRPS1,splice_region_variant,,ENST00000519076,;	1904	80	60	SUCCESS
ADAM2	2515	.	GRCh37	8	39645736	39645736	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	51	0	ENST00000265708.4:c.677C>T	p.Ser226Phe	p.S226F	ENST00000265708	NM_001464.4	226	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS34884.1	677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGACAGA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000265708	.	9/21	.	.	.	.	.	.	.	.	COSM3925279	9/21	PASS	ENST00000265708	Transcript	.	.	ENSG00000104755	198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.539)	.	deleterious(0.02)	1	ADAM2_HUMAN	ADAM2	HGNC	.	.	UPI00001254C2	SNV	ADAM2,missense_variant,p.Ser226Phe,ENST00000521880,;ADAM2,missense_variant,p.Ser226Phe,ENST00000265708,;ADAM2,missense_variant,p.Ser207Phe,ENST00000347580,;ADAM2,intron_variant,,ENST00000379853,;	781	51	31	SUCCESS
IDO1	3620	.	GRCh37	8	39785514	39785514	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	51	114	1	ENST00000518237.1:c.1022C>A	p.Ser341Tyr	p.S341Y	ENST00000518237	NM_002164.5	341	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS47847.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCCCTGA	NONE	.	.	Pfam_domain:PF01231,Superfamily_domains:SSF140959	.	.	ENSP00000430950	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000518237	Transcript	.	.	ENSG00000131203	6059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	I23O1_HUMAN	IDO1	HGNC	E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN	.	UPI00000012AA	SNV	IDO1,missense_variant,p.Ser341Tyr,ENST00000522495,;IDO1,missense_variant,p.Ser341Tyr,ENST00000518237,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,non_coding_transcript_exon_variant,,ENST00000523779,;IDO1,downstream_gene_variant,,ENST00000521480,;	1661	115	62	SUCCESS
C8orf22	0	.	GRCh37	8	49985444	49985444	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	37	107	1	ENST00000303202.8:c.55A>T	p.Lys19Ter	p.K19*	ENST00000303202	NM_001256598.1	19	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS59101.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGAAGTAAG	CODON|p.R18Q|c.53G>A|3	.	.	Prints_domain:PR02071,Pfam_domain:PF15060,hmmpanther:PTHR14572,hmmpanther:PTHR14572:SF1	.	.	ENSP00000304926	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000303202	Transcript	.	.	ENSG00000168333	31745	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDPFL_HUMAN	C8orf22	HGNC	.	.	UPI0000070316	SNV	C8orf22,stop_gained,p.Lys19Ter,ENST00000303202,;C8orf22,stop_gained,p.Lys19Ter,ENST00000399653,;C8orf22,stop_gained,p.Lys19Ter,ENST00000517663,;C8orf22,stop_gained,p.Lys19Ter,ENST00000522267,;	228	108	47	SUCCESS
C8orf34	116328	.	GRCh37	8	69445440	69445440	+	intron_variant	Intron	SNP	G	G	T	rs148649474	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	64	1	ENST00000518698.1:c.1105+56G>T		p.*369*	ENST00000518698	NM_052958.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS6203.2	.	MUTECT|MUSE	.	AAAACGTGTGG	NONE	byFrequency|by1000G	.	.	T:0.002	.	ENSP00000427820	T:0	.	.	.	.	.	.	.	.	.	rs148649474	.	PASS	ENST00000518698	Transcript	.	T:0.0004	ENSG00000165084	30905	.	.	MODIFIER	7/13	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CH034_HUMAN	C8orf34	HGNC	.	.	UPI000021D12D	SNV	C8orf34,3_prime_UTR_variant,,ENST00000348340,;C8orf34,intron_variant,,ENST00000539993,;C8orf34,intron_variant,,ENST00000337103,;C8orf34,intron_variant,,ENST00000518698,;C8orf34,intron_variant,,ENST00000518515,;C8orf34,intron_variant,,ENST00000521406,;	.	65	45	SUCCESS
PAPPA	5069	.	GRCh37	9	119116067	119116067	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	78	0	ENST00000328252.3:c.4342T>A	p.Ser1448Thr	p.S1448T	ENST00000328252	NM_002581.3	1448	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS6813.1	4342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCTCCCAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000330658	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	tolerated(0.63)	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,missense_variant,p.Ser1448Thr,ENST00000328252,;PAPPA,missense_variant,p.Ser486Thr,ENST00000534838,;	4711	78	73	SUCCESS
EXD3	54932	.	GRCh37	9	140247240	140247240	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	137	0	ENST00000340951.4:c.871-2A>T		p.X291_splice	ENST00000340951	NM_017820.3	291		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48066.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTGTGAG	NONE	.	.	.	.	.	ENSP00000340474	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340951	Transcript	.	.	ENSG00000187609	26023	.	.	HIGH	10/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUT7_HUMAN	EXD3	HGNC	E9PI94_HUMAN	.	UPI00003676BC	SNV	EXD3,splice_acceptor_variant,,ENST00000340951,;EXD3,splice_acceptor_variant,,ENST00000342129,;EXD3,splice_acceptor_variant,,ENST00000478350,;EXD3,splice_acceptor_variant,,ENST00000484392,;EXD3,downstream_gene_variant,,ENST00000490886,;EXD3,splice_acceptor_variant,,ENST00000491734,;EXD3,splice_acceptor_variant,,ENST00000472958,;EXD3,splice_acceptor_variant,,ENST00000478344,;EXD3,non_coding_transcript_exon_variant,,ENST00000487745,;	.	137	81	SUCCESS
CER1	9350	.	GRCh37	9	14722569	14722569	+	synonymous_variant	Silent	SNP	G	G	C	rs376786967	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	45	0	ENST00000380911.3:c.102C>G	p.Leu34=	p.L34=	ENST00000380911	NM_005454.2	34	ctC/ctG	0	A:0.0002	.	.	.	.	C	L	protein_coding	YES	CCDS6476.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGAGTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15273,hmmpanther:PTHR15273:SF3,PIRSF_domain:PIRSF027807	.	A:0	ENSP00000370297	.	1/2	.	.	.	.	.	.	.	.	rs376786967	1/2	PASS	ENST00000380911	Transcript	.	.	ENSG00000147869	1862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CER1_HUMAN	CER1	HGNC	.	.	UPI0000051056	SNV	CER1,synonymous_variant,p.%3D,ENST00000380911,;	147	45	42	SUCCESS
VCP	7415	.	GRCh37	9	35063004	35063004	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	100	0	ENST00000358901.6:c.782A>T	p.Glu261Val	p.E261V	ENST00000358901	NM_007126.3	261	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6573.1	782	RADIA|MUTECT|MUSE	.	CAGTCTCATTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR01243,Pfam_domain:PF00004,hmmpanther:PTHR23077:SF69,hmmpanther:PTHR23077	.	.	ENSP00000351777	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000358901	Transcript	.	.	ENSG00000165280	12666	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TERA_HUMAN	VCP	HGNC	Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN	.	UPI000005FB2E	SNV	VCP,missense_variant,p.Glu261Val,ENST00000358901,;VCP,downstream_gene_variant,,ENST00000417448,;VCP,downstream_gene_variant,,ENST00000448530,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;VCP,upstream_gene_variant,,ENST00000480327,;VCP,upstream_gene_variant,,ENST00000479300,;	1678	100	117	SUCCESS
MAOA	4128	.	GRCh37	X	43587514	43587514	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	96	0	ENST00000338702.3:c.598C>T	p.Gln200Ter	p.Q200*	ENST00000338702	NM_000240.3	200	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS14260.1	598	MUTECT|MUSE	.	TGAAGCAGTGC	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF253,Pfam_domain:PF01593,Gene3D:1.10.405.10,Superfamily_domains:SSF51905,Prints_domain:PR00757	.	.	ENSP00000340684	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000338702	Transcript	.	.	ENSG00000189221	6833	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AOFA_HUMAN	MAOA	HGNC	Q5ULA9_HUMAN,Q5ULA3_HUMAN,Q5UL94_HUMAN,Q5UL91_HUMAN,Q53YE7_HUMAN	.	UPI0000125B99	SNV	MAOA,stop_gained,p.Gln67Ter,ENST00000542639,;MAOA,stop_gained,p.Gln200Ter,ENST00000338702,;MAOA,non_coding_transcript_exon_variant,,ENST00000497485,;	721	96	58	SUCCESS
EFHC2	80258	.	GRCh37	X	44101519	44101519	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	60	123	0	ENST00000420999.1:c.1128T>G	p.Val376=	p.V376=	ENST00000420999	NM_025184.3	376	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS55405.1	1128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAAACTGA	CODON|p.V376A|c.1127T>C|3	.	.	hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11	.	.	ENSP00000404232	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000420999	Transcript	.	.	ENSG00000183690	26233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFHC2_HUMAN	EFHC2	HGNC	.	.	UPI00000717F2	SNV	EFHC2,synonymous_variant,p.%3D,ENST00000420999,;	1212	123	72	SUCCESS
WBP1L	54838	.	GRCh37	10	104572770	104572770	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	60	0	ENST00000369889.4:c.711G>C	p.Glu237Asp	p.E237D	ENST00000369889	NM_017787.4	237	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44473.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGAAGAC	NONE	.	.	hmmpanther:PTHR16209:SF4,hmmpanther:PTHR16209	.	.	ENSP00000414721	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000448841	Transcript	.	.	ENSG00000166272	23510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	WBP1L_HUMAN	WBP1L	HGNC	Q1EG69_HUMAN	.	UPI0000EE3B72	SNV	WBP1L,missense_variant,p.Glu258Asp,ENST00000448841,;WBP1L,missense_variant,p.Glu237Asp,ENST00000369889,;	858	60	45	SUCCESS
SORCS1	114815	.	GRCh37	10	108337267	108337267	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773379815	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	62	0	ENST00000263054.6:c.3418G>A	p.Asp1140Asn	p.D1140N	ENST00000263054	NM_001206570.1	1140	Gac/Aac	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31283.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTCACCAG	NONE	.	.	.	.	.	ENSP00000345964	.	.	.	.	.	.	.	.	.	.	rs773379815	.	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODIFIER	26/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Asp1140Asn,ENST00000263054,;SORCS1,3_prime_UTR_variant,,ENST00000369698,;SORCS1,intron_variant,,ENST00000452214,;SORCS1,intron_variant,,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	.	62	43	SUCCESS
DKK1	22943	.	GRCh37	10	54074368	54074368	+	synonymous_variant	Silent	SNP	T	T	C	rs887336853	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	22	208	0	ENST00000373970.3:c.174T>C	p.Ser58=	p.S58=	ENST00000373970	NM_012242.2	58	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7246.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCTGCAGT	NONE	.	.	.	.	.	ENSP00000363081	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000373970	Transcript	1	.	ENSG00000107984	2891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DKK1_HUMAN	DKK1	HGNC	I1W660_HUMAN	.	UPI000004C65E	SNV	DKK1,synonymous_variant,p.%3D,ENST00000373970,;PRKG1-AS1,upstream_gene_variant,,ENST00000420193,;DKK1,upstream_gene_variant,,ENST00000467359,;DKK1,upstream_gene_variant,,ENST00000494277,;DKK1,upstream_gene_variant,,ENST00000476752,;	313	209	115	SUCCESS
HELLS	3070	.	GRCh37	10	96350209	96350209	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	8	305	0	ENST00000348459.5:c.1528C>T	p.Arg510Ter	p.R510*	ENST00000348459	NM_018063.3	510	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS7434.1	1528	MUTECT|MUSE	.	CAAAACGACGA	NONE	.	.	Pfam_domain:PF00176,hmmpanther:PTHR10799:SF547,hmmpanther:PTHR10799	.	.	ENSP00000239027	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000348459	Transcript	.	.	ENSG00000119969	4861	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HELLS_HUMAN	HELLS	HGNC	B1ALG6_HUMAN	.	UPI000006F63A	SNV	HELLS,stop_gained,p.Arg510Ter,ENST00000348459,;HELLS,stop_gained,p.Arg556Ter,ENST00000371332,;HELLS,stop_gained,p.Arg412Ter,ENST00000394045,;HELLS,3_prime_UTR_variant,,ENST00000394036,;HELLS,3_prime_UTR_variant,,ENST00000239026,;HELLS,upstream_gene_variant,,ENST00000371327,;RP11-119K6.6,intron_variant,,ENST00000432120,;HELLS,upstream_gene_variant,,ENST00000464030,;	1633	305	183	SUCCESS
OR10G7	390265	.	GRCh37	11	123909502	123909502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	262	38	422	0	ENST00000330487.5:c.207G>T	p.Met69Ile	p.M69I	ENST00000330487	NM_001004463.1	69	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS31705.1	207	RADIA|MUTECT|MUSE|VARSCANS	.	AACCACATGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF7,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000329689	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330487	Transcript	.	.	ENSG00000182634	14842	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.78)	.	O10G7_HUMAN	OR10G7	HGNC	.	.	UPI0000040A84	SNV	OR10G7,missense_variant,p.Met69Ile,ENST00000330487,;	216	422	300	SUCCESS
NAV2	89797	.	GRCh37	11	20057523	20057523	+	synonymous_variant	Silent	SNP	C	C	T	rs199691877	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	54	1	ENST00000396087.3:c.2856C>T	p.Ser952=	p.S952=	ENST00000396087	NM_001244963.1	952	tcC/tcT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS58126.1	2856	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGCTCCGTCAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	T:0	.	ENSP00000379396	T:0.001	13/41	.	.	.	.	.	.	.	.	rs199691877	13/41	PASS	ENST00000396087	Transcript	.	T:0.0002	ENSG00000166833	15997	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,synonymous_variant,p.%3D,ENST00000530408,;NAV2,synonymous_variant,p.%3D,ENST00000360655,;NAV2,synonymous_variant,p.%3D,ENST00000525322,;NAV2,synonymous_variant,p.%3D,ENST00000533917,;NAV2,synonymous_variant,p.%3D,ENST00000527559,;NAV2,synonymous_variant,p.%3D,ENST00000349880,;NAV2,synonymous_variant,p.%3D,ENST00000396087,;NAV2,synonymous_variant,p.%3D,ENST00000396085,;NAV2,synonymous_variant,p.%3D,ENST00000540292,;NAV2,synonymous_variant,p.%3D,ENST00000311043,;NAV2,non_coding_transcript_exon_variant,,ENST00000526675,;NAV2,non_coding_transcript_exon_variant,,ENST00000534299,;	2955	55	34	SUCCESS
OR5D18	219438	.	GRCh37	11	55587664	55587664	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	111	0	ENST00000333976.4:c.559T>A	p.Ser187Thr	p.S187T	ENST00000333976	NM_001001952.1	187	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31510.1	559	RADIA|MUTECT|MUSE|VARSCANS	.	TACTCTCCCTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	deleterious(0.03)	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Ser187Thr,ENST00000333976,;	579	111	80	SUCCESS
OR1S1	219959	.	GRCh37	11	57983133	57983133	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	119	0	ENST00000309433.6:c.917G>A	p.Arg306Lys	p.R306K	ENST00000309433	NM_001004458.1	306	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS31546.1	917	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAGGAATA	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000311688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309433	Transcript	.	.	ENSG00000172774	8227	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.102)	.	deleterious(0.02)	.	OR1S1_HUMAN	OR1S1	HGNC	.	.	UPI0000041C51	SNV	OR1S1,missense_variant,p.Arg306Lys,ENST00000309433,;	917	119	99	SUCCESS
APBB1	322	.	GRCh37	11	6424420	6424420	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	22	173	0	ENST00000609360.1:c.1059A>T	p.Gln353His	p.Q353H	ENST00000609360	NM_001164.3	353	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS31410.1	1059	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTTGGGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF50729,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF5	.	.	ENSP00000299402	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000299402	Transcript	.	.	ENSG00000166313	581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.243)	.	tolerated(0.05)	.	APBB1_HUMAN	APBB1	HGNC	.	.	UPI0000070BF7	SNV	APBB1,missense_variant,p.Gln94His,ENST00000608704,;APBB1,missense_variant,p.Gln94His,ENST00000608394,;APBB1,missense_variant,p.Gln133His,ENST00000530885,;APBB1,missense_variant,p.Gln353His,ENST00000299402,;APBB1,missense_variant,p.Gln353His,ENST00000609360,;APBB1,missense_variant,p.Gln94His,ENST00000529890,;APBB1,missense_variant,p.Gln353His,ENST00000389906,;APBB1,missense_variant,p.Gln94His,ENST00000608645,;APBB1,missense_variant,p.Gln118His,ENST00000609331,;APBB1,missense_variant,p.Gln353His,ENST00000311051,;APBB1,missense_variant,p.Gln133His,ENST00000608655,;APBB1,intron_variant,,ENST00000529519,;APBB1,downstream_gene_variant,,ENST00000532020,;APBB1,missense_variant,p.Gln353His,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000533139,;APBB1,non_coding_transcript_exon_variant,,ENST00000533407,;APBB1,non_coding_transcript_exon_variant,,ENST00000534188,;APBB1,non_coding_transcript_exon_variant,,ENST00000526925,;APBB1,upstream_gene_variant,,ENST00000529778,;APBB1,upstream_gene_variant,,ENST00000524626,;	1159	173	139	SUCCESS
CPT1A	1374	.	GRCh37	11	68540890	68540890	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	66	0	ENST00000265641.5:c.1583A>T	p.Glu528Val	p.E528V	ENST00000265641	NM_001876.3	528	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS8185.1	1583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCTCTTGA	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF49,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000265641	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000265641	Transcript	.	.	ENSG00000110090	2328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.13)	.	CPT1A_HUMAN	CPT1A	HGNC	Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN	.	UPI000013D658	SNV	CPT1A,missense_variant,p.Glu528Val,ENST00000539743,;CPT1A,missense_variant,p.Glu528Val,ENST00000540367,;CPT1A,missense_variant,p.Glu528Val,ENST00000265641,;CPT1A,missense_variant,p.Glu528Val,ENST00000376618,;CPT1A,non_coding_transcript_exon_variant,,ENST00000537756,;	1738	66	61	SUCCESS
P2RY2	5029	.	GRCh37	11	72945790	72945790	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	39	1	ENST00000311131.2:c.586G>A	p.Val196Met	p.V196M	ENST00000311131	NM_176072.2	196	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS8219.1	586	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGTGGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF17,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000310305	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000311131	Transcript	.	.	ENSG00000175591	8541	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.149)	.	tolerated(0.11)	.	P2RY2_HUMAN	P2RY2	HGNC	.	.	UPI000013F103	SNV	P2RY2,missense_variant,p.Val196Met,ENST00000393597,;P2RY2,missense_variant,p.Val196Met,ENST00000311131,;P2RY2,missense_variant,p.Val196Met,ENST00000393596,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	1053	40	26	SUCCESS
PLEKHB1	58473	.	GRCh37	11	73366919	73366919	+	synonymous_variant	Silent	SNP	G	G	T	rs757316709	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	47	0	ENST00000354190.5:c.462G>T	p.Ser154=	p.S154=	ENST00000354190	NM_021200.2	154	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS44672.1	462	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCGTGGAG	NONE	.	.	hmmpanther:PTHR14309:SF7,hmmpanther:PTHR14309	.	.	ENSP00000346127	.	6/8	.	.	.	.	.	.	.	.	rs757316709	6/8	PASS	ENST00000354190	Transcript	.	.	ENSG00000021300	19079	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PKHB1_HUMAN	PLEKHB1	HGNC	F5H190_HUMAN,F5GY87_HUMAN	.	UPI000006F426	SNV	PLEKHB1,synonymous_variant,p.%3D,ENST00000539157,;PLEKHB1,synonymous_variant,p.%3D,ENST00000354190,;PLEKHB1,synonymous_variant,p.%3D,ENST00000398494,;PLEKHB1,synonymous_variant,p.%3D,ENST00000542389,;PLEKHB1,intron_variant,,ENST00000535582,;PLEKHB1,intron_variant,,ENST00000398492,;PLEKHB1,intron_variant,,ENST00000535129,;PLEKHB1,intron_variant,,ENST00000538227,;PLEKHB1,intron_variant,,ENST00000546251,;PLEKHB1,intron_variant,,ENST00000543524,;PLEKHB1,intron_variant,,ENST00000540431,;PLEKHB1,intron_variant,,ENST00000543085,;PLEKHB1,intron_variant,,ENST00000227214,;PLEKHB1,intron_variant,,ENST00000541597,;PLEKHB1,downstream_gene_variant,,ENST00000545798,;PLEKHB1,downstream_gene_variant,,ENST00000536527,;PLEKHB1,downstream_gene_variant,,ENST00000544532,;PLEKHB1,intron_variant,,ENST00000540157,;PLEKHB1,intron_variant,,ENST00000426191,;PLEKHB1,downstream_gene_variant,,ENST00000541760,;PLEKHB1,upstream_gene_variant,,ENST00000545106,;	893	47	40	SUCCESS
YBX3	8531	.	GRCh37	12	10862613	10862613	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146058214	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	92	0	ENST00000228251.4:c.674G>A	p.Arg225His	p.R225H	ENST00000228251	NM_003651.4	225	cGc/cAc	0	T:0	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS8630.1	674	MUTECT|MUSE	.	GGGGGCGGCGC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11544:SF14,hmmpanther:PTHR11544	T:0.001	T:0.0001	ENSP00000228251	T:0	6/10	.	.	.	.	.	.	.	.	rs146058214,COSM1945553	6/10	PASS	ENST00000228251	Transcript	.	T:0.0002	ENSG00000060138	2428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.016)	T:0	tolerated(0.17)	0,1	YBOX3_HUMAN	YBX3	HGNC	.	.	UPI000013DBD6	SNV	YBX3,missense_variant,p.Arg225His,ENST00000228251,;YBX3,intron_variant,,ENST00000279550,;YBX3,non_coding_transcript_exon_variant,,ENST00000546164,;YBX3,non_coding_transcript_exon_variant,,ENST00000544504,;YBX3,non_coding_transcript_exon_variant,,ENST00000539204,;YBX3,downstream_gene_variant,,ENST00000546298,;YBX3,downstream_gene_variant,,ENST00000544622,;YBX3,missense_variant,p.Arg55His,ENST00000541351,;YBX3,non_coding_transcript_exon_variant,,ENST00000540447,;YBX3,intron_variant,,ENST00000542641,;YBX3,intron_variant,,ENST00000542002,;	875	92	65	SUCCESS
NCOR2	9612	.	GRCh37	12	124882700	124882700	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	94	0	ENST00000405201.1:c.1841G>A	p.Arg614His	p.R614H	ENST00000405201		614	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS41858.2	1841	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCGAGAA	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992,Pfam_domain:PF00249,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000384018	.	16/47	.	.	.	.	.	.	.	.	.	16/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Arg614His,ENST00000356219,;NCOR2,missense_variant,p.Arg614His,ENST00000458234,;NCOR2,missense_variant,p.Arg614His,ENST00000405201,;NCOR2,missense_variant,p.Arg613His,ENST00000404621,;NCOR2,missense_variant,p.Arg184His,ENST00000404121,;NCOR2,missense_variant,p.Arg614His,ENST00000397355,;NCOR2,missense_variant,p.Arg613His,ENST00000429285,;	1842	94	71	SUCCESS
KRAS	3845	.	GRCh37	12	25398284	25398284	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913529	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	19	148	0	ENST00000256078.4:c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	NM_033360.2	12	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS8703.1	35	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCACCAGCT	SITE|p.G12D|c.35G>A|10719,SITE|p.G12D|c.35G>A|342,CODON|p.G12E|c.35_36GT>AA|3,CODON|p.G12V|c.35_36GT>TC|6,CODON|p.G12W|c.34_36GGT>TGG|3,CODON|p.G12F|c.34_35GG>TT|46,CODON|p.G12Y|c.34_35GG>TA|3,CODON|p.G12I|c.34_35GG>AT|5,CODON|p.G12L|c.34_35GG>CT|8,CODON|p.G12G|c.36T>A|4,CODON|p.G12G|c.36T>C|7,CODON|p.G12V|c.35G>T|7138,CODON|p.G12V|c.35G>T|329,CODON|p.G12A|c.35G>C|1694,CODON|p.G12A|c.35G>C|39,BUFFER|p.G13_V14insG|c.39_40insGGC|3,BUFFER|p.G13D|c.38_39GC>AT|22,BUFFER|p.G13V|c.38_39GC>TT|6,BUFFER|p.V14I|c.40G>A|16,BUFFER|p.G13G|c.39C>T|7,BUFFER|p.G13G|c.39C>A|9,BUFFER|p.G13G|c.39C>G|3,BUFFER|p.G13V|c.38G>T|30,BUFFER|p.G13D|c.38G>A|3959,BUFFER|p.G13A|c.38G>C|30,BUFFER|p.G13D|c.38G>A|76,BUFFER|p.G13C|c.37G>T|276,BUFFER|p.G13S|c.37G>A|67,BUFFER|p.G13R|c.37G>C|50,BUFFER|p.G13C|c.37G>T|10,BUFFER|p.G12_G13insG|c.36_37insGGT|5,BUFFER|p.G12R|c.34G>C|1024,BUFFER|p.G12S|c.34G>A|1507,BUFFER|p.G12C|c.34G>T|3713,BUFFER|p.G12S|c.34G>A|27,BUFFER|p.G12C|c.34G>T|80,BUFFER|p.G12R|c.34G>C|101,BUFFER|p.A11V|c.32C>T|3,BUFFER|p.G10_A11insG|c.30_31insGGA|5,BUFFER|p.V8V|c.24A>G|3	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000256078	.	2/6	.	.	.	.	.	.	.	.	CM087372,COSM520,COSM521,COSM522,COSM12657,COSM1140133,COSM1135366,COSM1140134	2/6	PASS	ENST00000256078	Transcript	.	.	ENSG00000133703	6407	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1,1,1,1	.	.	benign(0.361)	.	deleterious(0)	0,1,1,1,1,1,1,1	RASK_HUMAN	KRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN	.	UPI0000133132	SNV	KRAS,missense_variant,p.Gly12Asp,ENST00000256078,;KRAS,missense_variant,p.Gly12Asp,ENST00000311936,;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	99	148	131	SUCCESS
AQP2	359	.	GRCh37	12	50348011	50348011	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	34	0	ENST00000199280.3:c.434T>A	p.Ile145Asn	p.I145N	ENST00000199280	NM_000486.5	145	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS8792.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATCTTCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF45,hmmpanther:PTHR19139,Pfam_domain:PF00230,Gene3D:1.20.1080.10,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338,Prints_domain:PR00783	.	.	ENSP00000199280	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000199280	Transcript	.	.	ENSG00000167580	634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	AQP2_HUMAN	AQP2	HGNC	.	.	UPI000000D9DF	SNV	AQP2,missense_variant,p.Ile145Asn,ENST00000550862,;AQP2,missense_variant,p.Ile145Asn,ENST00000199280,;RP11-469H8.6,non_coding_transcript_exon_variant,,ENST00000552379,;RP11-469H8.6,intron_variant,,ENST00000550530,;RP11-469H8.6,downstream_gene_variant,,ENST00000550214,;RP11-469H8.8,downstream_gene_variant,,ENST00000552806,;AQP2,missense_variant,p.Ile145Asn,ENST00000551526,;	519	34	16	SUCCESS
KRT76	51350	.	GRCh37	12	53163331	53163331	+	splice_donor_variant	Splice_Site	DEL	A	A	-	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	84	0	ENST00000332411.2:c.1519+2del		p.X507_splice	ENST00000332411	NM_015848.4	507		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8838.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTACTTACAAAT	NONE	.	.	.	.	.	ENSP00000330101	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000332411	Transcript	.	.	ENSG00000185069	24430	.	.	HIGH	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K22O_HUMAN	KRT76	HGNC	.	.	UPI000019B3C1	deletion	KRT76,splice_donor_variant,,ENST00000332411,;	.	84	58	SUCCESS
DPY19L2	283417	.	GRCh37	12	63974527	63974527	+	synonymous_variant	Silent	SNP	G	G	A	rs140003085	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	46	231	0	ENST00000324472.4:c.1815C>T	p.Leu605=	p.L605=	ENST00000324472	NM_173812.4	605	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31851.1	1815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	TTACGGAGGTT	NONE	.	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF6,hmmpanther:PTHR31488	.	.	ENSP00000315988	.	19/22	.	.	.	.	.	.	.	.	rs140003085,COSM108478	19/22	PASS	ENST00000324472	Transcript	.	.	ENSG00000177990	19414	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	.	.	.	1,1	D19L2_HUMAN	DPY19L2	HGNC	F5H4G6_HUMAN,F5H1L7_HUMAN,B4E191_HUMAN	.	UPI000006EC0C	SNV	DPY19L2,synonymous_variant,p.%3D,ENST00000413230,;DPY19L2,synonymous_variant,p.%3D,ENST00000324472,;DPY19L2,intron_variant,,ENST00000439061,;	1999	231	153	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85450161	85450161	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	33	405	0	ENST00000393217.2:c.1590A>T	p.Leu530Phe	p.L530F	ENST00000393217	NM_001079910.1	530	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS41816.1	1590	RADIA|MUTECT|MUSE|VARSCANS	.	GAATTAAAGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.05)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Leu530Phe,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	1651	405	251	SUCCESS
FREM2	341640	.	GRCh37	13	39262692	39262692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	92	0	ENST00000280481.7:c.1211A>T	p.Gln404Leu	p.Q404L	ENST00000280481	NM_207361.4	404	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS31960.1	1211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAGGAGC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.69)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Gln404Leu,ENST00000280481,;	1427	92	88	SUCCESS
COG3	83548	.	GRCh37	13	46067592	46067592	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	96	0	ENST00000349995.5:c.1298A>T	p.Glu433Val	p.E433V	ENST00000349995	NM_031431.3	433	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS9398.1	1298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGAGGTGC	NONE	.	.	hmmpanther:PTHR13302	.	.	ENSP00000258654	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000349995	Transcript	.	.	ENSG00000136152	18619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COG3_HUMAN	COG3	HGNC	.	.	UPI0000366968	SNV	COG3,missense_variant,p.Glu433Val,ENST00000349995,;COG3,non_coding_transcript_exon_variant,,ENST00000465942,;	1410	96	55	SUCCESS
DIO3	1735	.	GRCh37	14	102027713	102027713	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	58	0	ENST00000510508.4:c.-121C>G		p.*41*	ENST00000510508				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41992.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCGCGCT	NONE	.	.	.	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,5_prime_UTR_variant,,ENST00000510508,;DIO3,5_prime_UTR_variant,,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	26	58	48	SUCCESS
TEP1	7011	.	GRCh37	14	20847004	20847004	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs111632717	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	112	0	ENST00000262715.5:c.5261A>G	p.Gln1754Arg	p.Q1754R	ENST00000262715	NM_007110.4	1754	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9548.1	5261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCTGCAGC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294	.	.	ENSP00000262715	.	37/55	.	.	.	.	.	.	.	.	rs111632717	37/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	tolerated(0.4)	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Gln92Arg,ENST00000545983,;TEP1,missense_variant,p.Gln1646Arg,ENST00000556935,;TEP1,missense_variant,p.Gln1754Arg,ENST00000262715,;TEP1,missense_variant,p.Gln1097Arg,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000471684,;TEP1,upstream_gene_variant,,ENST00000556488,;	5302	112	88	SUCCESS
KHNYN	23351	.	GRCh37	14	24905674	24905674	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	86	0	ENST00000251343.5:c.1766A>T	p.Glu589Val	p.E589V	ENST00000251343		589	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32058.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGAATTTC	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28	.	.	ENSP00000251343	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000251343	Transcript	.	.	ENSG00000100441	20166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious(0)	.	KHNYN_HUMAN	KHNYN	HGNC	G3V3G3_HUMAN,G3V331_HUMAN	.	UPI000000CC1F	SNV	KHNYN,missense_variant,p.Glu589Val,ENST00000556842,;KHNYN,missense_variant,p.Glu589Val,ENST00000553935,;KHNYN,missense_variant,p.Glu34Val,ENST00000554268,;KHNYN,missense_variant,p.Glu589Val,ENST00000251343,;SDR39U1,downstream_gene_variant,,ENST00000399390,;SDR39U1,downstream_gene_variant,,ENST00000556523,;SDR39U1,downstream_gene_variant,,ENST00000555225,;SDR39U1,downstream_gene_variant,,ENST00000554698,;SDR39U1,downstream_gene_variant,,ENST00000555355,;KHNYN,downstream_gene_variant,,ENST00000556510,;SDR39U1,downstream_gene_variant,,ENST00000555365,;SDR39U1,downstream_gene_variant,,ENST00000556249,;SDR39U1,downstream_gene_variant,,ENST00000553343,;SDR39U1,downstream_gene_variant,,ENST00000538105,;SDR39U1,downstream_gene_variant,,ENST00000399395,;SDR39U1,downstream_gene_variant,,ENST00000553930,;SDR39U1,downstream_gene_variant,,ENST00000555830,;SDR39U1,downstream_gene_variant,,ENST00000555561,;KHNYN,non_coding_transcript_exon_variant,,ENST00000556255,;SDR39U1,downstream_gene_variant,,ENST00000554947,;SDR39U1,downstream_gene_variant,,ENST00000553546,;SDR39U1,downstream_gene_variant,,ENST00000556175,;SDR39U1,downstream_gene_variant,,ENST00000555778,;SDR39U1,downstream_gene_variant,,ENST00000556548,;SDR39U1,downstream_gene_variant,,ENST00000556707,;SDR39U1,downstream_gene_variant,,ENST00000544691,;SDR39U1,downstream_gene_variant,,ENST00000556262,;	1905	86	55	SUCCESS
NID2	22795	.	GRCh37	14	52485915	52485915	+	synonymous_variant	Silent	SNP	G	G	A	rs142814187	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	132	0	ENST00000216286.5:c.2892C>T	p.Asp964=	p.D964=	ENST00000216286	NM_007361.3	964	gaC/gaT	0	A:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS9706.1	2892	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGTCGCA	NONE	byCluster	.	PROSITE_profiles:PS51162,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF5,PROSITE_patterns:PS00484,Pfam_domain:PF00086,Gene3D:4.10.800.10,SMART_domains:SM00211,Superfamily_domains:SSF57610	.	A:0	ENSP00000216286	.	14/22	.	.	.	.	.	.	.	.	rs142814187	14/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,synonymous_variant,p.%3D,ENST00000556572,;NID2,synonymous_variant,p.%3D,ENST00000541773,;NID2,synonymous_variant,p.%3D,ENST00000216286,;NID2,intron_variant,,ENST00000557051,;	2892	132	80	SUCCESS
SYNE2	23224	.	GRCh37	14	64469831	64469831	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	79	0	ENST00000344113.4:c.4180G>T	p.Gly1394Cys	p.G1394C	ENST00000344113	NM_015180.4	1394	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS9761.2	4180	MUTECT|MUSE	.	AACGGGGTGAT	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	30/116	.	.	.	.	.	.	.	.	COSM1477675	30/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	.	1	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Gly1394Cys,ENST00000554584,;SYNE2,missense_variant,p.Gly1394Cys,ENST00000358025,;SYNE2,missense_variant,p.Gly1394Cys,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	4410	79	60	SUCCESS
SLC8A3	6547	.	GRCh37	14	70633575	70633575	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	100	0	ENST00000381269.2:c.1565C>T	p.Thr522Ile	p.T522I	ENST00000381269	NM_183002.1	522	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS35498.1	1565	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGTAACT	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000370669	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000381269	Transcript	.	.	ENSG00000100678	11070	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.338)	.	tolerated(0.08)	.	NAC3_HUMAN	SLC8A3	HGNC	Q86TQ9_HUMAN	.	UPI0000073C9A	SNV	SLC8A3,missense_variant,p.Thr522Ile,ENST00000534137,;SLC8A3,missense_variant,p.Thr522Ile,ENST00000381269,;SLC8A3,missense_variant,p.Thr522Ile,ENST00000357887,;SLC8A3,missense_variant,p.Thr522Ile,ENST00000528359,;SLC8A3,missense_variant,p.Thr522Ile,ENST00000356921,;SLC8A3,missense_variant,p.Thr522Ile,ENST00000494208,;	2319	100	67	SUCCESS
EML5	161436	.	GRCh37	14	89094074	89094074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	45	0	ENST00000380664.5:c.4423G>T	p.Val1475Phe	p.V1475F	ENST00000380664		1475	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS45148.1	4447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACTGAAC	NONE	.	.	Superfamily_domains:SSF50998,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	34/44	.	.	.	.	.	.	.	.	.	34/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious(0)	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Val1437Phe,ENST00000352093,;EML5,missense_variant,p.Val1483Phe,ENST00000554922,;EML5,missense_variant,p.Val1475Phe,ENST00000380664,;EML5,upstream_gene_variant,,ENST00000555823,;EML5,upstream_gene_variant,,ENST00000553320,;EML5,3_prime_UTR_variant,,ENST00000553281,;EML5,3_prime_UTR_variant,,ENST00000553526,;EML5,downstream_gene_variant,,ENST00000553962,;	4696	45	64	SUCCESS
RFX7	64864	.	GRCh37	15	56386765	56386765	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	98	0	ENST00000559447.2:c.2870C>G	p.Ala957Gly	p.A957G	ENST00000559447		957	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	.	3161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGCCATG	NONE	.	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Ala1054Gly,ENST00000423270,;RFX7,missense_variant,p.Ala957Gly,ENST00000559447,;RFX7,missense_variant,p.Ala1054Gly,ENST00000317318,;RFX7,missense_variant,p.Ala957Gly,ENST00000422057,;RFX7,missense_variant,p.Ala957Gly,ENST00000559847,;	3161	98	59	SUCCESS
KCTD13	253980	.	GRCh37	16	29934567	29934567	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	rs774531778	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	113	0	ENST00000308768.5:c.358G>A	p.Glu120Lys	p.E120K	ENST00000308768		120	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10661.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCGCCCA	NONE	byFrequency	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF11	.	.	ENSP00000455785	.	2/6	.	.	.	.	.	.	.	.	rs774531778	2/6	PASS	ENST00000568000	Transcript	.	.	ENSG00000174943	22234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BACD1_HUMAN	KCTD13	HGNC	.	.	UPI0000073C51	SNV	KCTD13,missense_variant,p.Glu120Lys,ENST00000561540,;KCTD13,missense_variant,p.Glu26Lys,ENST00000566413,;KCTD13,missense_variant,p.Glu120Lys,ENST00000568000,;KCTD13,upstream_gene_variant,,ENST00000568995,;CTD-2574D22.2,upstream_gene_variant,,ENST00000450909,;CTD-2574D22.4,upstream_gene_variant,,ENST00000567795,;KCTD13,non_coding_transcript_exon_variant,,ENST00000563264,;KCTD13,non_coding_transcript_exon_variant,,ENST00000568721,;KCTD13,missense_variant,p.Glu54Lys,ENST00000566842,;KCTD13,missense_variant,p.Glu120Lys,ENST00000308768,;ASPHD1,downstream_gene_variant,,ENST00000414952,;ASPHD1,downstream_gene_variant,,ENST00000566693,;	1360	113	79	SUCCESS
MEFV	4210	.	GRCh37	16	3304621	3304621	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	37	0	ENST00000219596.1:c.447C>T	p.Ala149=	p.A149=	ENST00000219596	NM_000243.2	149	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10498.1	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGGCCTC	NONE	.	.	.	.	.	ENSP00000219596	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,synonymous_variant,p.%3D,ENST00000219596,;MEFV,intron_variant,,ENST00000536379,;MEFV,intron_variant,,ENST00000339854,;MEFV,intron_variant,,ENST00000541159,;MEFV,synonymous_variant,p.%3D,ENST00000538326,;MEFV,synonymous_variant,p.%3D,ENST00000570511,;MEFV,synonymous_variant,p.%3D,ENST00000542898,;MEFV,synonymous_variant,p.%3D,ENST00000537682,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000536980,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;MEFV,intron_variant,,ENST00000539145,;	487	37	18	SUCCESS
VPS35	55737	.	GRCh37	16	46708524	46708524	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs756884549	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	123	0	ENST00000299138.7:c.963T>G	p.Asp321Glu	p.D321E	ENST00000299138	NM_018206.4	321	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS10721.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATATCCGC	NONE	.	.	hmmpanther:PTHR11099,Pfam_domain:PF03635,PIRSF_domain:PIRSF009375,Superfamily_domains:SSF48371	.	.	ENSP00000299138	.	9/17	.	.	.	.	.	.	.	.	rs756884549	9/17	PASS	ENST00000299138	Transcript	.	.	ENSG00000069329	13487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.64)	.	VPS35_HUMAN	VPS35	HGNC	.	.	UPI0000138BEF	SNV	VPS35,missense_variant,p.Asp321Glu,ENST00000299138,;VPS35,non_coding_transcript_exon_variant,,ENST00000568642,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,downstream_gene_variant,,ENST00000569950,;VPS35,downstream_gene_variant,,ENST00000565228,;	1022	123	73	SUCCESS
CDH1	999	.	GRCh37	16	68849632	68849632	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	165	0	ENST00000261769.5:c.1535A>T	p.Glu512Val	p.E512V	ENST00000261769	NM_004360.3	512	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10869.1	1535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAGCCAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261769	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	deleterious(0)	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,missense_variant,p.Glu451Val,ENST00000422392,;CDH1,missense_variant,p.Glu512Val,ENST00000261769,;RP11-354M1.2,intron_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,missense_variant,p.Glu512Val,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,downstream_gene_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000565810,;	1726	165	98	SUCCESS
ZNF469	84627	.	GRCh37	16	88502369	88502369	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753082153	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	67	0	ENST00000437464.1:c.8407G>T	p.Val2803Phe	p.V2803F	ENST00000437464	NM_001127464.1	2803	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS45544.1	8407	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGTCCAG	NONE	byFrequency	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	rs753082153	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.501)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Val2831Phe,ENST00000565624,;ZNF469,missense_variant,p.Val2803Phe,ENST00000437464,;	8407	67	36	SUCCESS
GALNS	2588	.	GRCh37	16	88923324	88923324	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	6	310	0	ENST00000268695.5:c.-39C>T		p.*13*	ENST00000268695	NM_000512.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10970.1	.	MUTECT|MUSE	.	GAGCCGACCTA	NONE	.	.	.	.	.	ENSP00000268695	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000268695	Transcript	.	.	ENSG00000141012	4122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GALNS_HUMAN	GALNS	HGNC	Q96I49_HUMAN,Q6YL38_HUMAN	.	UPI000012AF92	SNV	GALNS,5_prime_UTR_variant,,ENST00000568311,;GALNS,5_prime_UTR_variant,,ENST00000268695,;GALNS,5_prime_UTR_variant,,ENST00000569433,;TRAPPC2L,intron_variant,,ENST00000564365,;TRAPPC2L,upstream_gene_variant,,ENST00000301021,;TRAPPC2L,upstream_gene_variant,,ENST00000568583,;TRAPPC2L,upstream_gene_variant,,ENST00000565504,;GALNS,upstream_gene_variant,,ENST00000562831,;TRAPPC2L,upstream_gene_variant,,ENST00000561840,;PABPN1L,downstream_gene_variant,,ENST00000378358,;GALNS,upstream_gene_variant,,ENST00000542788,;TRAPPC2L,upstream_gene_variant,,ENST00000567312,;TRAPPC2L,upstream_gene_variant,,ENST00000567895,;GALNS,upstream_gene_variant,,ENST00000565364,;TRAPPC2L,upstream_gene_variant,,ENST00000565309,;TRAPPC2L,upstream_gene_variant,,ENST00000562792,;TRAPPC2L,upstream_gene_variant,,ENST00000562125,;GALNS,upstream_gene_variant,,ENST00000568613,;GALNS,upstream_gene_variant,,ENST00000567525,;TRAPPC2L,upstream_gene_variant,,ENST00000564547,;TRAPPC2L,upstream_gene_variant,,ENST00000563514,;TRAPPC2L,upstream_gene_variant,,ENST00000565205,;TRAPPC2L,upstream_gene_variant,,ENST00000564404,;	51	310	171	SUCCESS
ZNF18	7566	.	GRCh37	17	11881999	11882007	+	inframe_deletion	In_Frame_Del	DEL	GGAGCTCCT	GGAGCTCCT	-	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	GGAGCTCCT	GGAGCTCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	37	0	ENST00000322748.3:c.917_925del	p.Gln306_Leu308del	p.Q306_L308del	ENST00000322748	NM_144680.2	306	cAGGAGCTCCtg/ctg	0	.	.	.	.	.	-	QELL/L	protein_coding	YES	CCDS32568.1	917-925	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGCAGGAGCTCCTGGTCC	NONE	.	.	hmmpanther:PTHR10032:SF11,hmmpanther:PTHR10032	.	.	ENSP00000315664	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000322748	Transcript	.	.	ENSG00000154957	12969	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF18_HUMAN	ZNF18	HGNC	J3KSC1_HUMAN	.	UPI00000703B9	deletion	ZNF18,inframe_deletion,p.Gln305_Leu307del,ENST00000454073,;ZNF18,inframe_deletion,p.Gln306_Leu308del,ENST00000322748,;ZNF18,inframe_deletion,p.Gln90_Leu92del,ENST00000577671,;ZNF18,inframe_deletion,p.Gln127_Leu129del,ENST00000582607,;ZNF18,inframe_deletion,p.Gln306_Leu308del,ENST00000580306,;ZNF18,intron_variant,,ENST00000580613,;RP11-1096G20.5,upstream_gene_variant,,ENST00000580270,;	1522-1530	37	25	SUCCESS
PNMT	5409	.	GRCh37	17	37824849	37824849	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	112	0	ENST00000269582.2:c.121G>T	p.Ala41Ser	p.A41S	ENST00000269582	NM_002686.4	41	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11343.1	121	MUTECT|MUSE	.	ACTACGCGCCC	NONE	.	.	PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF18,Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,Superfamily_domains:SSF53335	.	.	ENSP00000269582	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000269582	Transcript	.	.	ENSG00000141744	9160	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	tolerated(0.68)	.	PNMT_HUMAN	PNMT	HGNC	J3QRI3_HUMAN,A8MT87_HUMAN	.	UPI0000111BE4	SNV	PNMT,missense_variant,p.Ala41Ser,ENST00000269582,;PNMT,missense_variant,p.Ala41Ser,ENST00000581428,;PNMT,intron_variant,,ENST00000394246,;PGAP3,downstream_gene_variant,,ENST00000429199,;PGAP3,downstream_gene_variant,,ENST00000579146,;TCAP,downstream_gene_variant,,ENST00000578283,;PGAP3,downstream_gene_variant,,ENST00000300658,;TCAP,downstream_gene_variant,,ENST00000309889,;PGAP3,downstream_gene_variant,,ENST00000378011,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000309862,;	439	112	71	SUCCESS
CCDC103	388389	.	GRCh37	17	42979763	42979763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	101	0	ENST00000410006.2:c.307G>A	p.Ala103Thr	p.A103T	ENST00000410006	NM_001258395.1	103	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11490.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTGCTGAC	NONE	.	.	Pfam_domain:PF13877	.	.	ENSP00000391692	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000417826	Transcript	.	.	ENSG00000167131	32700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0.03)	.	CC103_HUMAN	CCDC103	HGNC	J3KSE5_HUMAN,F8W6J8_HUMAN	.	UPI0000074564	SNV	CCDC103,missense_variant,p.Ala103Thr,ENST00000417826,;CCDC103,missense_variant,p.Ala103Thr,ENST00000357776,;CCDC103,missense_variant,p.Ala103Thr,ENST00000410006,;FAM187A,5_prime_UTR_variant,,ENST00000331733,;CCDC103,3_prime_UTR_variant,,ENST00000410027,;FAM187A,intron_variant,,ENST00000412523,;EFTUD2,upstream_gene_variant,,ENST00000592576,;GFAP,downstream_gene_variant,,ENST00000253408,;EFTUD2,upstream_gene_variant,,ENST00000402521,;EFTUD2,upstream_gene_variant,,ENST00000591382,;EFTUD2,upstream_gene_variant,,ENST00000426333,;CCDC103,downstream_gene_variant,,ENST00000577339,;EFTUD2,upstream_gene_variant,,ENST00000592701,;EFTUD2,upstream_gene_variant,,ENST00000593072,;GFAP,downstream_gene_variant,,ENST00000588735,;AC015936.3,downstream_gene_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000592065,;EFTUD2,upstream_gene_variant,,ENST00000589825,;EFTUD2,upstream_gene_variant,,ENST00000590105,;GFAP,downstream_gene_variant,,ENST00000589701,;GFAP,downstream_gene_variant,,ENST00000585543,;EFTUD2,upstream_gene_variant,,ENST00000592408,;	402	101	99	SUCCESS
CACNA1G	8913	.	GRCh37	17	48667861	48667861	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	64	0	ENST00000359106.5:c.2331C>A	p.Ile777=	p.I777=	ENST00000359106	NM_018896.4	777	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS45730.1	2331	MUTECT|MUSE	.	GAAATCAGCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	10/38	.	.	.	.	.	.	.	.	.	10/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000416767,;CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000514181,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,synonymous_variant,p.%3D,ENST00000511768,;CACNA1G,synonymous_variant,p.%3D,ENST00000503436,;CACNA1G,synonymous_variant,p.%3D,ENST00000503607,;CACNA1G,synonymous_variant,p.%3D,ENST00000506406,;CACNA1G,synonymous_variant,p.%3D,ENST00000504076,;CACNA1G,synonymous_variant,p.%3D,ENST00000511765,;	2331	64	63	SUCCESS
TLK2	11011	.	GRCh37	17	60599622	60599622	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	213	109	436	0	ENST00000326270.9:c.211G>A	p.Glu71Lys	p.E71K	ENST00000326270	NM_001284333.1	71	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS11633.1	211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATGAAACT	NONE	.	.	hmmpanther:PTHR22974:SF20,hmmpanther:PTHR22974	.	.	ENSP00000275780	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000346027	Transcript	.	.	ENSG00000146872	11842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated_low_confidence(0.09)	.	TLK2_HUMAN	TLK2	HGNC	J3QS73_HUMAN,J3QQN4_HUMAN,J3QLK5_HUMAN,J3KST4_HUMAN	.	UPI00001B6B0F	SNV	TLK2,missense_variant,p.Glu71Lys,ENST00000581041,;TLK2,missense_variant,p.Glu71Lys,ENST00000343388,;TLK2,missense_variant,p.Glu71Lys,ENST00000582195,;TLK2,missense_variant,p.Glu71Lys,ENST00000542523,;TLK2,missense_variant,p.Glu71Lys,ENST00000579450,;TLK2,missense_variant,p.Glu71Lys,ENST00000346027,;TLK2,missense_variant,p.Glu71Lys,ENST00000326270,;TLK2,5_prime_UTR_variant,,ENST00000582809,;TLK2,5_prime_UTR_variant,,ENST00000583843,;TLK2,intron_variant,,ENST00000580705,;TLK2,3_prime_UTR_variant,,ENST00000583690,;	482	436	322	SUCCESS
CCDC137	339230	.	GRCh37	17	79633783	79633783	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs746276545	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	37	117	0	ENST00000329214.8:c.-14C>A		p.*5*	ENST00000329214	NM_199287.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42400.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCTCCCG	NONE	byFrequency	.	.	.	.	ENSP00000329360	.	1/6	.	.	.	.	.	.	.	.	rs746276545	1/6	PASS	ENST00000329214	Transcript	.	.	ENSG00000185298	33451	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC137_HUMAN	CCDC137	HGNC	H6QX63_HUMAN	.	UPI00001983C7	SNV	CCDC137,5_prime_UTR_variant,,ENST00000329214,;CCDC137,upstream_gene_variant,,ENST00000574107,;OXLD1,upstream_gene_variant,,ENST00000374741,;OXLD1,upstream_gene_variant,,ENST00000571503,;PDE6G,upstream_gene_variant,,ENST00000571224,;PDE6G,upstream_gene_variant,,ENST00000574777,;OXLD1,upstream_gene_variant,,ENST00000573786,;CCDC137,5_prime_UTR_variant,,ENST00000575223,;CCDC137,upstream_gene_variant,,ENST00000571916,;CCDC137,upstream_gene_variant,,ENST00000572531,;OXLD1,upstream_gene_variant,,ENST00000571092,;OXLD1,upstream_gene_variant,,ENST00000571757,;OXLD1,upstream_gene_variant,,ENST00000575992,;OXLD1,upstream_gene_variant,,ENST00000575963,;CCDC137,upstream_gene_variant,,ENST00000574200,;	390	117	98	SUCCESS
CCDC178	374864	.	GRCh37	18	30846940	30846940	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371081933	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	142	1	ENST00000383096.3:c.1349C>T	p.Thr450Met	p.T450M	ENST00000383096		450	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS42424.1	1349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGTCAGT	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000372576	.	14/23	.	.	.	.	.	.	.	.	rs371081933,COSM359196,COSM359195	14/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.002)	.	tolerated(0.34)	0,1,1	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Thr450Met,ENST00000579947,;CCDC178,missense_variant,p.Thr450Met,ENST00000406524,;CCDC178,missense_variant,p.Thr450Met,ENST00000403303,;CCDC178,missense_variant,p.Thr450Met,ENST00000383096,;CCDC178,missense_variant,p.Thr450Met,ENST00000402325,;CCDC178,missense_variant,p.Thr450Met,ENST00000300227,;CCDC178,missense_variant,p.Thr450Met,ENST00000583930,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,upstream_gene_variant,,ENST00000581524,;	1532	143	104	SUCCESS
ASXL3	80816	.	GRCh37	18	31323438	31323438	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	85	0	ENST00000269197.5:c.3626T>A	p.Val1209Glu	p.V1209E	ENST00000269197	NM_030632.1	1209	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS45847.1	3626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTGTCAC	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	12/12	.	.	.	.	.	.	.	.	COSM401768,COSM401767	12/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.432)	.	.	1,1	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Val1209Glu,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	3626	85	67	SUCCESS
HAUS1	115106	.	GRCh37	18	43703286	43703286	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1359770078	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	5	213	1	ENST00000282058.6:c.622A>G	p.Met208Val	p.M208V	ENST00000282058	NM_138443.3	208	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS11928.1	622	MUTECT|MUSE	.	GAGGCATGGAT	NONE	.	.	hmmpanther:PTHR31570	.	.	ENSP00000282058	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000282058	Transcript	.	.	ENSG00000152240	25174	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	deleterious(0.01)	.	HAUS1_HUMAN	HAUS1	HGNC	.	.	UPI0000073700	SNV	HAUS1,missense_variant,p.His76Arg,ENST00000585518,;HAUS1,missense_variant,p.Met208Val,ENST00000282058,;HAUS1,downstream_gene_variant,,ENST00000592471,;RNU6-1278P,upstream_gene_variant,,ENST00000516130,;HAUS1,non_coding_transcript_exon_variant,,ENST00000588704,;HAUS1,upstream_gene_variant,,ENST00000585425,;HAUS1,3_prime_UTR_variant,,ENST00000592206,;HAUS1,3_prime_UTR_variant,,ENST00000591715,;HAUS1,3_prime_UTR_variant,,ENST00000593165,;HAUS1,3_prime_UTR_variant,,ENST00000589554,;HAUS1,non_coding_transcript_exon_variant,,ENST00000595199,;HAUS1,intron_variant,,ENST00000586060,;HAUS1,downstream_gene_variant,,ENST00000591098,;	702	214	92	SUCCESS
LAMA1	284217	.	GRCh37	18	6985272	6985272	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	72	0	ENST00000389658.3:c.5624C>G	p.Ala1875Gly	p.A1875G	ENST00000389658	NM_005559.3	1875	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS32787.1	5624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCATGG	NONE	.	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574	.	.	ENSP00000374309	.	39/63	.	.	.	.	.	.	.	.	.	39/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Ala1875Gly,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	5718	72	79	SUCCESS
ZNF791	163049	.	GRCh37	19	12739581	12739581	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	12	145	0	ENST00000343325.4:c.1238del	p.Glu413GlyfsTer19	p.E413Gfs*19	ENST00000343325	NM_153358.2	413	gAg/gg	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS12273.1	1238	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTATGAGTGTA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000342974	.	4/4	.	.	.	.	.	.	.	.	COSM4154051	4/4	PASS	ENST00000343325	Transcript	.	.	ENSG00000173875	26895	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ZN791_HUMAN	ZNF791	HGNC	M0R0E8_HUMAN,F5GXD7_HUMAN,B7Z586_HUMAN	.	UPI0000203455	deletion	ZNF791,frameshift_variant,p.Glu413GlyfsTer19,ENST00000343325,;ZNF791,frameshift_variant,p.Glu304GlyfsTer19,ENST00000540038,;ZNF791,frameshift_variant,p.Glu381GlyfsTer19,ENST00000458122,;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;AC010422.1,upstream_gene_variant,,ENST00000408416,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,;	1400	145	113	SUCCESS
WIZ	58525	.	GRCh37	19	15547669	15547669	+	synonymous_variant	Silent	SNP	C	C	T	rs767650543	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	17	174	0	ENST00000263381.7:c.477G>A	p.Thr159=	p.T159=	ENST00000263381	NM_021241.2	159	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42516.1	477	RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCGTGAG	NONE	byFrequency	.	hmmpanther:PTHR24402:SF162,hmmpanther:PTHR24402	.	.	ENSP00000263381	.	3/8	.	.	.	.	.	.	.	.	rs767650543	3/8	PASS	ENST00000263381	Transcript	.	.	ENSG00000011451	30917	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WIZ_HUMAN	WIZ	HGNC	M0QXF8_HUMAN	.	UPI000041F888	SNV	WIZ,synonymous_variant,p.%3D,ENST00000263381,;WIZ,synonymous_variant,p.%3D,ENST00000389282,;WIZ,upstream_gene_variant,,ENST00000599686,;WIZ,downstream_gene_variant,,ENST00000596159,;WIZ,upstream_gene_variant,,ENST00000599910,;WIZ,non_coding_transcript_exon_variant,,ENST00000595214,;	691	174	152	SUCCESS
ZNF536	9745	.	GRCh37	19	30936235	30936235	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	122	0	ENST00000355537.3:c.1766G>A	p.Gly589Asp	p.G589D	ENST00000355537	NM_014717.1	589	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32984.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGCAGCC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.46)	.	deleterious(0.02)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly589Asp,ENST00000585628,;ZNF536,missense_variant,p.Gly589Asp,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	1913	122	92	SUCCESS
ZNF536	9745	.	GRCh37	19	30936236	30936236	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	122	0	ENST00000355537.3:c.1767C>A	p.Gly589=	p.G589=	ENST00000355537	NM_014717.1	589	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32984.1	1767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCAGCCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000585628,;ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	1914	122	92	SUCCESS
APLP1	333	.	GRCh37	19	36361890	36361890	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	122	0	ENST00000221891.4:c.384C>T	p.Cys128=	p.C128=	ENST00000221891	NM_001024807.1	128	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS32997.1	384	MUTECT|MUSE	.	AGCTGCGCCCA	NONE	.	.	hmmpanther:PTHR23103:SF13,hmmpanther:PTHR23103,Pfam_domain:PF02177,Gene3D:1mwpA00,SMART_domains:SM00006,Superfamily_domains:0041119	.	.	ENSP00000221891	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000221891	Transcript	.	.	ENSG00000105290	597	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APLP1_HUMAN	APLP1	HGNC	K7EQJ4_HUMAN,K7ELK0_HUMAN,A4UCT6_HUMAN	.	UPI000020215E	SNV	APLP1,synonymous_variant,p.%3D,ENST00000592316,;APLP1,synonymous_variant,p.%3D,ENST00000589743,;APLP1,synonymous_variant,p.%3D,ENST00000221891,;APLP1,synonymous_variant,p.%3D,ENST00000586861,;APLP1,synonymous_variant,p.%3D,ENST00000537454,;APLP1,upstream_gene_variant,,ENST00000587274,;KIRREL2,downstream_gene_variant,,ENST00000592409,;KIRREL2,downstream_gene_variant,,ENST00000360202,;KIRREL2,downstream_gene_variant,,ENST00000262625,;APLP1,upstream_gene_variant,,ENST00000588808,;KIRREL2,downstream_gene_variant,,ENST00000347900,;NPHS1,upstream_gene_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000589298,;APLP1,missense_variant,p.Ala101Val,ENST00000590561,;	576	122	105	SUCCESS
RYR1	6261	.	GRCh37	19	39034257	39034257	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751225696	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	77	0	ENST00000359596.3:c.11864C>T	p.Ser3955Leu	p.S3955L	ENST00000359596		3955	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS33011.1	11864	RADIA|MUTECT|MUSE|VARSCANS	.	CATGTCGGTGG	NONE	byFrequency	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF08454	.	.	ENSP00000352608	.	86/106	.	.	.	.	.	.	.	.	rs751225696	86/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ser3950Leu,ENST00000355481,;RYR1,missense_variant,p.Ser3950Leu,ENST00000360985,;RYR1,missense_variant,p.Ser3955Leu,ENST00000359596,;RYR1,downstream_gene_variant,,ENST00000596431,;RYR1,3_prime_UTR_variant,,ENST00000593322,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	11864	77	64	SUCCESS
DLL3	10683	.	GRCh37	19	39996065	39996065	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781119337	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	97	1	ENST00000205143.4:c.1067G>A	p.Arg356Gln	p.R356Q	ENST00000205143	NM_016941.3	356	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12538.1	1067	RADIA|MUTECT|MUSE	.	GGACCGGTGCA	NONE	byFrequency	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR24838:SF115,hmmpanther:PTHR24838,PROSITE_profiles:PS50026	.	.	ENSP00000205143	.	6/8	.	.	.	.	.	.	.	.	rs781119337	6/8	PASS	ENST00000205143	Transcript	1	.	ENSG00000090932	2909	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	DLL3_HUMAN	DLL3	HGNC	.	.	UPI0000051041	SNV	DLL3,missense_variant,p.Arg356Gln,ENST00000205143,;DLL3,missense_variant,p.Arg356Gln,ENST00000356433,;DLL3,intron_variant,,ENST00000596614,;DLL3,non_coding_transcript_exon_variant,,ENST00000600437,;	1074	98	69	SUCCESS
PRX	57716	.	GRCh37	19	40901569	40901569	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752531623	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	89	0	ENST00000324001.7:c.2690G>A	p.Arg897Gln	p.R897Q	ENST00000324001	NM_181882.2	897	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33028.1	2690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCGGAAG	NONE	byFrequency	.	hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	.	.	ENSP00000326018	.	7/7	.	.	.	.	.	.	.	.	rs752531623	7/7	PASS	ENST00000324001	Transcript	1	.	ENSG00000105227	13797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0.01)	.	PRAX_HUMAN	PRX	HGNC	.	.	UPI000044CC1A	SNV	PRX,missense_variant,p.Arg897Gln,ENST00000324001,;PRX,3_prime_UTR_variant,,ENST00000291825,;	2961	89	89	SUCCESS
ZNF610	162963	.	GRCh37	19	52869167	52869167	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	157	0	ENST00000321287.8:c.536A>G	p.Tyr179Cys	p.Y179C	ENST00000321287	NM_001161426.1	179	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12851.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATATAGAA	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF197	.	.	ENSP00000383922	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000403906	Transcript	.	.	ENSG00000167554	26687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.09)	.	ZN610_HUMAN	ZNF610	HGNC	M0QYM6_HUMAN	.	UPI0000140AF2	SNV	ZNF610,missense_variant,p.Tyr179Cys,ENST00000327920,;ZNF610,missense_variant,p.Tyr136Cys,ENST00000601151,;ZNF610,missense_variant,p.Tyr179Cys,ENST00000403906,;ZNF610,missense_variant,p.Tyr179Cys,ENST00000321287,;ZNF880,upstream_gene_variant,,ENST00000422689,;ZNF880,upstream_gene_variant,,ENST00000344085,;ZNF880,upstream_gene_variant,,ENST00000600321,;ZNF880,upstream_gene_variant,,ENST00000424032,;ZNF880,upstream_gene_variant,,ENST00000597976,;ZNF880,upstream_gene_variant,,ENST00000595099,;	992	157	131	SUCCESS
EPS8L1	54869	.	GRCh37	19	55593208	55593208	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	171	0	ENST00000201647.6:c.842C>T	p.Ala281Val	p.A281V	ENST00000201647	NM_133180.2	281	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12914.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGGCCA	NONE	.	.	hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19	.	.	ENSP00000201647	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,missense_variant,p.Ala263Val,ENST00000586329,;EPS8L1,missense_variant,p.Ala154Val,ENST00000245618,;EPS8L1,missense_variant,p.Ala281Val,ENST00000201647,;EPS8L1,missense_variant,p.Ala217Val,ENST00000540810,;EPS8L1,intron_variant,,ENST00000588359,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000587901,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,missense_variant,p.Ala243Val,ENST00000587786,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000590610,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000590232,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592284,;EPS8L1,downstream_gene_variant,,ENST00000592044,;EPS8L1,upstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592318,;EPS8L1,downstream_gene_variant,,ENST00000591219,;EPS8L1,upstream_gene_variant,,ENST00000589362,;	898	171	153	SUCCESS
ZNF544	27300	.	GRCh37	19	58772416	58772416	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	137	0	ENST00000269829.4:c.444G>C	p.Glu148Asp	p.E148D	ENST00000269829	NM_014480.2	148	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS12973.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGAGACT	NONE	.	.	hmmpanther:PTHR24377	.	.	ENSP00000269829	.	7/7	.	.	.	.	.	.	.	.	COSM3404724	7/7	PASS	ENST00000269829	Transcript	.	.	ENSG00000198131	16759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.074)	.	tolerated(0.14)	1	ZN544_HUMAN	ZNF544	HGNC	O14844_HUMAN,M0QY11_HUMAN	.	UPI000013D856	SNV	ZNF544,missense_variant,p.Glu6Asp,ENST00000599953,;ZNF544,missense_variant,p.Glu148Asp,ENST00000269829,;ZNF544,missense_variant,p.Glu148Asp,ENST00000596652,;ZNF544,missense_variant,p.Glu120Asp,ENST00000415203,;ZNF544,missense_variant,p.Glu120Asp,ENST00000600220,;ZNF544,missense_variant,p.Glu120Asp,ENST00000600044,;ZNF544,3_prime_UTR_variant,,ENST00000596825,;ZNF544,3_prime_UTR_variant,,ENST00000599227,;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,;ZNF544,downstream_gene_variant,,ENST00000594384,;CTD-3138B18.5,intron_variant,,ENST00000597230,;ZNF544,non_coding_transcript_exon_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;CTD-3138B18.4,intron_variant,,ENST00000600029,;	918	137	122	SUCCESS
C3	718	.	GRCh37	19	6720638	6720638	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	107	0	ENST00000245907.6:c.-38G>A		p.*13*	ENST00000245907	NM_000064.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32883.1	.	RADIA|MUSE|VARSCANS	.	AGGGACAGAGG	NONE	.	.	.	.	.	ENSP00000245907	.	1/41	.	.	.	.	.	.	.	.	.	1/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,5_prime_UTR_variant,,ENST00000245907,;C3,intron_variant,,ENST00000600744,;C3,non_coding_transcript_exon_variant,,ENST00000594936,;	56	107	79	SUCCESS
CAMSAP3	57662	.	GRCh37	19	7676885	7676885	+	synonymous_variant	Silent	SNP	C	C	T	rs1329778656	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	87	0	ENST00000160298.4:c.1506C>T	p.Pro502=	p.P502=	ENST00000160298	NM_020902.1	502	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45947.1	1587	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGAGGG	NONE	.	.	hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2	.	.	ENSP00000416797	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000446248	Transcript	.	.	ENSG00000076826	29307	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAMP3_HUMAN	CAMSAP3	HGNC	Q8WZ12_HUMAN,D6W648_HUMAN	.	UPI0000161861	SNV	CAMSAP3,synonymous_variant,p.%3D,ENST00000160298,;CAMSAP3,synonymous_variant,p.%3D,ENST00000446248,;CAMSAP3,upstream_gene_variant,,ENST00000593434,;CAMSAP3,upstream_gene_variant,,ENST00000595692,;	1688	87	52	SUCCESS
VPS13D	55187	.	GRCh37	1	12336579	12336579	+	synonymous_variant	Silent	SNP	C	C	T	rs1221219334	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	89	0	ENST00000358136.3:c.2934C>T	p.Leu978=	p.L978=	ENST00000358136	NM_015378.2	978	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30588.1	2934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTCAAGGT	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	19/70	.	.	.	.	.	.	.	.	.	19/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,synonymous_variant,p.%3D,ENST00000358136,;VPS13D,synonymous_variant,p.%3D,ENST00000356315,;VPS13D,upstream_gene_variant,,ENST00000011700,;	3064	89	37	SUCCESS
PAPPA2	60676	.	GRCh37	1	176762782	176762782	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	25	107	0	ENST00000367662.3:c.5107T>C	p.Trp1703Arg	p.W1703R	ENST00000367662	NM_020318.2	1703	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS41438.1	5107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACTGGATG	NONE	.	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325	.	.	ENSP00000356634	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	tolerated(0.23)	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,missense_variant,p.Trp1703Arg,ENST00000367662,;PAPPA2,non_coding_transcript_exon_variant,,ENST00000479836,;	6271	107	135	SUCCESS
HMCN1	83872	.	GRCh37	1	186076063	186076063	+	synonymous_variant	Silent	SNP	A	A	T	rs1424077436	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	57	0	ENST00000271588.4:c.10818A>T	p.Gly3606=	p.G3606=	ENST00000271588	NM_031935.2	3606	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30956.1	10818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGAGATGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	70/107	.	.	.	.	.	.	.	.	.	70/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	11047	57	104	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186880396	186880396	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs774762374	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	57	108	0	ENST00000367466.3:c.433C>T	p.Arg145Ter	p.R145*	ENST00000367466	NM_024420.2	145	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS1372.1	433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTACGATTT	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	7/18	.	.	.	.	.	.	.	.	rs774762374	7/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,stop_gained,p.Arg145Ter,ENST00000367466,;PLA2G4A,intron_variant,,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	585	108	168	SUCCESS
MRTO4	51154	.	GRCh37	1	19583602	19583602	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139632622	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	131	0	ENST00000330263.4:c.236G>A	p.Arg79Gln	p.R79Q	ENST00000330263	NM_016183.3	79	cGg/cAg	0	A:0.0002	A:0.0008	.	A:0	.	A	R/Q	protein_coding	YES	CCDS191.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGGAGCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21141,Pfam_domain:PF00466,Superfamily_domains:0053665	A:0.001	A:0	ENSP00000364320	A:0	4/8	.	.	.	.	.	.	.	.	rs139632622	4/8	PASS	ENST00000330263	Transcript	.	A:0.0004	ENSG00000053372	18477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	A:0	deleterious(0.04)	.	MRT4_HUMAN	MRTO4	HGNC	.	.	UPI00000467E9	SNV	MRTO4,missense_variant,p.Arg79Gln,ENST00000330263,;MRTO4,downstream_gene_variant,,ENST00000493700,;MRTO4,upstream_gene_variant,,ENST00000479559,;	533	131	44	SUCCESS
TMCO4	255104	.	GRCh37	1	20009838	20009838	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	44	178	0	ENST00000294543.6:c.1600G>A	p.Ala534Thr	p.A534T	ENST00000294543	NM_181719.4	534	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS198.1	1600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCCAGCA	NONE	.	.	hmmpanther:PTHR17920	.	.	ENSP00000294543	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000294543	Transcript	.	.	ENSG00000162542	27393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.476)	.	tolerated(0.23)	.	TMCO4_HUMAN	TMCO4	HGNC	Q6ZSC6_HUMAN	.	UPI0000197EC6	SNV	TMCO4,missense_variant,p.Ala534Thr,ENST00000375127,;TMCO4,missense_variant,p.Ala534Thr,ENST00000294543,;TMCO4,missense_variant,p.Ala494Thr,ENST00000375122,;HTR6,downstream_gene_variant,,ENST00000289753,;TMCO4,non_coding_transcript_exon_variant,,ENST00000489814,;	1842	178	87	SUCCESS
ENO1P1	2025	.	GRCh37	1	236647610	236647610	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	41	0	ENST00000366587.4:n.1146T>A		p.*382*	ENST00000366587				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1610.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTGACCT	NONE	.	1618	.	.	.	ENSP00000335076	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334232	Transcript	.	.	ENSG00000186197	14341	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDAD_HUMAN	EDARADD	HGNC	B1AL55_HUMAN	.	UPI0000456324	SNV	EDARADD,3_prime_UTR_variant,,ENST00000359362,;EDARADD,downstream_gene_variant,,ENST00000334232,;EDARADD,downstream_gene_variant,,ENST00000439430,;ENO1P1,non_coding_transcript_exon_variant,,ENST00000366587,;	.	41	55	SUCCESS
EXO1	9156	.	GRCh37	1	242042426	242042426	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	15	146	0	ENST00000348581.5:c.1890G>A	p.Leu630=	p.L630=	ENST00000348581	NM_003686.4	630	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1620.1	1890	MUTECT|MUSE|VARSCANS	.	GCATTGCAGCA	BUFFER|p.R634*|c.1900C>T|3	.	.	hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081	.	.	ENSP00000355506	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000366548	Transcript	.	.	ENSG00000174371	3511	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXO1_HUMAN	EXO1	HGNC	Q5T399_HUMAN	.	UPI000013DDA8	SNV	EXO1,synonymous_variant,p.%3D,ENST00000348581,;EXO1,synonymous_variant,p.%3D,ENST00000518483,;EXO1,synonymous_variant,p.%3D,ENST00000521202,;EXO1,synonymous_variant,p.%3D,ENST00000366548,;	2483	146	189	SUCCESS
ASB17	127247	.	GRCh37	1	76397825	76397825	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	40	160	0	ENST00000284142.6:c.152T>A	p.Leu51Gln	p.L51Q	ENST00000284142	NM_080868.2	51	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS671.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCAGTGAT	NONE	.	.	hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2	.	.	ENSP00000284142	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000284142	Transcript	.	.	ENSG00000154007	19769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious_low_confidence(0)	.	ASB17_HUMAN	ASB17	HGNC	.	.	UPI0000073CD7	SNV	ASB17,missense_variant,p.Leu51Gln,ENST00000284142,;	292	160	103	SUCCESS
CLCA2	9635	.	GRCh37	1	86921030	86921030	+	synonymous_variant	Silent	SNP	G	G	A	rs137880392	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	32	168	0	ENST00000370565.4:c.2652G>A	p.Ala884=	p.A884=	ENST00000370565	NM_006536.5	884	gcG/gcA	0	A:0.0005	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS708.1	2652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGCCTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10579:SF39,hmmpanther:PTHR10579	A:0	A:0.0007	ENSP00000359596	A:0.001	14/14	.	.	.	.	.	.	.	.	rs137880392	14/14	common_in_exac	ENST00000370565	Transcript	.	A:0.0004	ENSG00000137975	2016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	CLCA2_HUMAN	CLCA2	HGNC	.	.	UPI0000035838	SNV	CLCA2,synonymous_variant,p.%3D,ENST00000370565,;CLCA2,downstream_gene_variant,,ENST00000498802,;	2814	168	104	SUCCESS
ABCA4	24	.	GRCh37	1	94548954	94548954	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	63	0	ENST00000370225.3:c.812G>T	p.Arg271Ile	p.R271I	ENST00000370225	NM_000350.2	271	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS747.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATCTCAGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	7/50	.	.	.	.	.	.	.	.	.	7/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.254)	.	tolerated(0.08)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Arg271Ile,ENST00000370225,;ABCA4,missense_variant,p.Arg271Ile,ENST00000535735,;	899	63	45	SUCCESS
SSTR4	6754	.	GRCh37	20	23016628	23016628	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	48	0	ENST00000255008.3:c.508G>T	p.Val170Leu	p.V170L	ENST00000255008	NM_001052.2	170	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS42856.1	508	MUTECT|MUSE	.	TGGGCGTGTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000255008	.	1/1	.	.	.	.	.	.	.	.	COSM1318853	1/1	PASS	ENST00000255008	Transcript	.	.	ENSG00000132671	11333	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.36)	.	deleterious(0.04)	1	SSR4_HUMAN	SSTR4	HGNC	.	.	UPI000013CE7A	SNV	SSTR4,missense_variant,p.Val170Leu,ENST00000255008,;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	572	48	36	SUCCESS
TPX2	22974	.	GRCh37	20	30371654	30371654	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs777036685	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	43	185	1	ENST00000300403.6:c.1343A>T	p.Lys448Met	p.K448M	ENST00000300403	NM_012112.4	448	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS13190.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAAGAAAA	NONE	.	.	hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9,Pfam_domain:PF12214	.	.	ENSP00000300403	.	12/18	.	.	.	.	.	.	.	.	rs777036685	12/18	PASS	ENST00000300403	Transcript	.	.	ENSG00000088325	1249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	TPX2_HUMAN	TPX2	HGNC	Q96FC3_HUMAN,Q643R0_HUMAN,B3KM90_HUMAN	.	UPI00000015BB	SNV	TPX2,missense_variant,p.Lys448Met,ENST00000300403,;TPX2,missense_variant,p.Lys484Met,ENST00000340513,;	1871	186	123	SUCCESS
NCOA6	23054	.	GRCh37	20	33370044	33370044	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	118	1	ENST00000359003.2:c.115A>G	p.Ser39Gly	p.S39G	ENST00000359003	NM_014071.3	39	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS13241.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTTTTTG	NONE	.	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,missense_variant,p.Ser39Gly,ENST00000374796,;NCOA6,missense_variant,p.Ser39Gly,ENST00000359003,;	2686	119	101	SUCCESS
TRPC4AP	26133	.	GRCh37	20	33657145	33657145	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	102	386	0	ENST00000252015.2:c.368C>G	p.Thr123Ser	p.T123S	ENST00000252015		123	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS13246.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGTTTCT	NONE	.	.	hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Superfamily_domains:SSF48371	.	.	ENSP00000252015	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000252015	Transcript	.	.	ENSG00000100991	16181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TP4AP_HUMAN	TRPC4AP	HGNC	.	.	UPI000004FADD	SNV	TRPC4AP,missense_variant,p.Thr123Ser,ENST00000451813,;TRPC4AP,missense_variant,p.Thr123Ser,ENST00000252015,;TRPC4AP,intron_variant,,ENST00000432634,;	458	386	292	SUCCESS
EMILIN3	90187	.	GRCh37	20	39993687	39993687	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	80	0	ENST00000332312.3:c.278C>A	p.Pro93His	p.P93H	ENST00000332312	NM_052846.1	93	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS13316.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGGGGCAC	NONE	.	.	PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF2,Pfam_domain:PF07546	.	.	ENSP00000332806	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000332312	Transcript	.	.	ENSG00000183798	16123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	EMIL3_HUMAN	EMILIN3	HGNC	Q495S5_HUMAN	.	UPI00001D82E8	SNV	EMILIN3,missense_variant,p.Pro93His,ENST00000332312,;LPIN3,downstream_gene_variant,,ENST00000373257,;	471	80	48	SUCCESS
JPH2	57158	.	GRCh37	20	42788721	42788721	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	157	0	ENST00000372980.3:c.706C>T	p.Arg236Cys	p.R236C	ENST00000372980	NM_020433.4	236	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13325.1	706	MUTECT|MUSE|VARSCANS	.	CGTGCGCGACT	NONE	.	.	hmmpanther:PTHR23085:SF5,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	.	.	ENSP00000362071	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000372980	Transcript	1	.	ENSG00000149596	14202	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.871)	.	deleterious(0)	.	JPH2_HUMAN	JPH2	HGNC	Q86VZ3_HUMAN,B4E3T9_HUMAN	.	UPI000012DAC2	SNV	JPH2,missense_variant,p.Arg236Cys,ENST00000372980,;	1579	157	94	SUCCESS
SS18L1	26039	.	GRCh37	20	60739279	60739279	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	10	144	0	ENST00000331758.3:c.800T>G	p.Met267Arg	p.M267R	ENST00000331758	NM_198935.1	267	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS13491.1	800	MUTECT|MUSE|VARSCANS	.	GCCCATGGGCC	NONE	.	.	hmmpanther:PTHR23107,hmmpanther:PTHR23107:SF4	.	.	ENSP00000333012	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000331758	Transcript	.	.	ENSG00000184402	15592	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.391)	.	deleterious_low_confidence(0.02)	.	CREST_HUMAN	SS18L1	HGNC	.	.	UPI000013543D	SNV	SS18L1,missense_variant,p.Met267Arg,ENST00000421564,;SS18L1,missense_variant,p.Met270Arg,ENST00000370848,;SS18L1,missense_variant,p.Met267Arg,ENST00000331758,;SS18L1,downstream_gene_variant,,ENST00000450482,;SS18L1,downstream_gene_variant,,ENST00000491916,;SS18L1,missense_variant,p.Met82Arg,ENST00000492466,;	826	144	133	SUCCESS
COL20A1	57642	.	GRCh37	20	61951458	61951458	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	103	0	ENST00000358894.6:c.2984C>T	p.Pro995Leu	p.P995L	ENST00000358894	NM_020882.2	995	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS46628.1	2984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCCCTTG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00210,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF498	.	.	ENSP00000351767	.	24/36	.	.	.	.	.	.	.	.	COSM225803	24/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.071)	.	tolerated(0.07)	1	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,missense_variant,p.Pro995Leu,ENST00000358894,;COL20A1,missense_variant,p.Pro1002Leu,ENST00000422202,;COL20A1,missense_variant,p.Pro995Leu,ENST00000326996,;COL20A1,missense_variant,p.Pro1002Leu,ENST00000435874,;COL20A1,missense_variant,p.Pro98Leu,ENST00000415763,;COL20A1,missense_variant,p.Pro3Leu,ENST00000455906,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;COL20A1,upstream_gene_variant,,ENST00000471582,;	3084	103	100	SUCCESS
RCAN1	1827	.	GRCh37	21	35893850	35893850	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747238292	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	14	112	0	ENST00000313806.4:c.533C>T	p.Ala178Val	p.A178V	ENST00000313806	NM_004414.5	178	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13637.1	533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGCATCT	NONE	.	.	hmmpanther:PTHR10300:SF4,hmmpanther:PTHR10300,Pfam_domain:PF04847	.	.	ENSP00000320768	.	3/4	.	.	.	.	.	.	.	.	rs747238292	3/4	PASS	ENST00000313806	Transcript	.	.	ENSG00000159200	3040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0.01)	.	RCAN1_HUMAN	RCAN1	HGNC	Q9H2A1_HUMAN	.	UPI00001B4EA7	SNV	RCAN1,missense_variant,p.Ala43Val,ENST00000487990,;RCAN1,missense_variant,p.Ala123Val,ENST00000381132,;RCAN1,missense_variant,p.Ala168Val,ENST00000381135,;RCAN1,missense_variant,p.Ala97Val,ENST00000399272,;RCAN1,missense_variant,p.Ala123Val,ENST00000492600,;RCAN1,missense_variant,p.Ala168Val,ENST00000481448,;RCAN1,missense_variant,p.Ala43Val,ENST00000482533,;RCAN1,missense_variant,p.Ala43Val,ENST00000443408,;RCAN1,missense_variant,p.Ala178Val,ENST00000313806,;RCAN1,non_coding_transcript_exon_variant,,ENST00000487434,;RCAN1,non_coding_transcript_exon_variant,,ENST00000489903,;RCAN1,downstream_gene_variant,,ENST00000463276,;RCAN1,non_coding_transcript_exon_variant,,ENST00000609325,;	664	112	100	SUCCESS
DYRK1A	1859	.	GRCh37	21	38858785	38858785	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	91	364	2	ENST00000398960.2:c.533A>T	p.Asp178Val	p.D178V	ENST00000398960	NM_001396.3	178	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS42925.1	533	RADIA|VARSCANS	.	ATATGATCGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000381932	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,missense_variant,p.Asp178Val,ENST00000451934,;DYRK1A,missense_variant,p.Asp169Val,ENST00000339659,;DYRK1A,missense_variant,p.Asp178Val,ENST00000398956,;DYRK1A,missense_variant,p.Asp178Val,ENST00000398960,;DYRK1A,missense_variant,p.Asp178Val,ENST00000338785,;DYRK1A,missense_variant,p.Asp178Val,ENST00000321219,;DYRK1A,upstream_gene_variant,,ENST00000455387,;DYRK1A,downstream_gene_variant,,ENST00000462274,;	608	367	246	SUCCESS
IGLV2-14	28815	.	GRCh37	22	23101270	23101270	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760514752	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	87	0	ENST00000390312.2:c.41G>A	p.Gly14Asp	p.G14D	ENST00000390312		14	gGc/gAc	0	.	.	.	.	.	A	G/D	IG_V_gene	YES	.	41	MUTECT|MUSE	.	TCAGGGCACAG	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF138	.	.	ENSP00000374847	.	1/2	.	.	.	.	.	.	.	.	rs760514752	1/2	PASS	ENST00000390312	Transcript	.	.	ENSG00000211666	5888	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.89)	.	.	IGLV2-14	HGNC	Q5NV63_HUMAN	.	UPI000173A2CE	SNV	IGLV2-14,missense_variant,p.Gly14Asp,ENST00000390312,;D87015.1,non_coding_transcript_exon_variant,,ENST00000385100,;IGLV3-15,downstream_gene_variant,,ENST00000518356,;IGLV3-13,upstream_gene_variant,,ENST00000518475,;	82	88	62	SUCCESS
NCF4	4689	.	GRCh37	22	37273743	37273743	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	79	0	ENST00000248899.6:c.898G>T	p.Asp300Tyr	p.D300Y	ENST00000248899	NM_000631.4	300	Gat/Tat	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13935.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGGATGAG	NONE	.	.	.	.	.	ENSP00000380334	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000397147	Transcript	.	.	ENSG00000100365	7662	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCF4_HUMAN	NCF4	HGNC	B0QY04_HUMAN	.	UPI000013CC59	SNV	NCF4,missense_variant,p.Asp300Tyr,ENST00000248899,;NCF4,3_prime_UTR_variant,,ENST00000397147,;NCF4,3_prime_UTR_variant,,ENST00000415063,;NCF4,downstream_gene_variant,,ENST00000447071,;	1327	79	56	SUCCESS
EDAR	10913	.	GRCh37	2	109513487	109513487	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	139	0	ENST00000258443.2:c.1223T>C	p.Ile408Thr	p.I408T	ENST00000258443	NM_022336.3	408	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2081.1	1223	MUTECT|MUSE	.	CAGGGATGCTG	NONE	.	.	hmmpanther:PTHR12120:SF9,hmmpanther:PTHR12120,Pfam_domain:PF00531,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000258443	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000258443	Transcript	.	.	ENSG00000135960	2895	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.474)	.	deleterious(0)	.	EDAR_HUMAN	EDAR	HGNC	.	.	UPI0000129BC4	SNV	EDAR,missense_variant,p.Ile440Thr,ENST00000409271,;EDAR,missense_variant,p.Ile440Thr,ENST00000376651,;EDAR,missense_variant,p.Ile408Thr,ENST00000258443,;	1654	139	94	SUCCESS
GYPC	2995	.	GRCh37	2	127453545	127453545	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200879714	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	81	0	ENST00000259254.4:c.214G>A	p.Val72Ile	p.V72I	ENST00000259254	NM_002101.4	72	Gtc/Atc	0	A:0	.	.	.	.	A	V/I	protein_coding	YES	CCDS2136.1	214	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGTCCTA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24543	.	A:0.0003	ENSP00000259254	.	4/4	.	.	.	.	.	.	.	.	rs200879714,COSM1527584,COSM4084653	4/4	PASS	ENST00000259254	Transcript	.	.	ENSG00000136732	4704	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.109)	.	tolerated(0.31)	0,1,1	GLPC_HUMAN	GYPC	HGNC	A8D444_HUMAN	.	UPI000012B763	SNV	GYPC,missense_variant,p.Val72Ile,ENST00000259254,;GYPC,missense_variant,p.Val53Ile,ENST00000409836,;GYPC,missense_variant,p.Val51Ile,ENST00000356887,;GYPC,non_coding_transcript_exon_variant,,ENST00000464053,;	545	81	64	SUCCESS
AC008271.1	0	.	GRCh37	2	15841423	15841423	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs147573225	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	136	0	ENST00000436967.1:c.208A>T	p.Met70Leu	p.M70L	ENST00000436967		70	Atg/Ttg	0	.	G:0.0113	.	G:0.0014	.	T	M/L	protein_coding	YES	.	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGATGTAC	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000399192	G:0	2/4	.	.	.	.	.	.	.	.	rs147573225	2/4	PASS	ENST00000436967	Transcript	.	G:0.0032	ENSG00000231031	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	G:0	.	.	.	AC008271.1	Clone_based_vega_gene	.	.	UPI000173A3E9	SNV	AC008271.1,missense_variant,p.Met70Leu,ENST00000436967,;AC008271.1,non_coding_transcript_exon_variant,,ENST00000476839,;AC008271.1,non_coding_transcript_exon_variant,,ENST00000492352,;	206	136	106	SUCCESS
TTN	7273	.	GRCh37	2	179449197	179449197	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	6	123	0	ENST00000591111.1:c.60158A>T	p.Tyr20053Phe	p.Y20053F	ENST00000591111		20053	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS59435.1	65081	MUTECT|MUSE	.	TCAGATAACCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	311/363	.	.	.	.	.	.	.	.	.	311/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr12754Phe,ENST00000359218,;TTN,missense_variant,p.Tyr20053Phe,ENST00000591111,;TTN,missense_variant,p.Tyr21694Phe,ENST00000589042,;TTN,missense_variant,p.Tyr12821Phe,ENST00000342175,;TTN,missense_variant,p.Tyr19126Phe,ENST00000342992,;TTN,missense_variant,p.Tyr12629Phe,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000438095,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;	65306	123	100	SUCCESS
ZDBF2	57683	.	GRCh37	2	207175623	207175623	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	37	134	0	ENST00000374423.3:c.6371A>G	p.Asp2124Gly	p.D2124G	ENST00000374423	NM_020923.1	2124	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS46501.1	6371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGACTCTT	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.46)	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Asp2124Gly,ENST00000374423,;	6757	135	118	SUCCESS
ZFAND2B	130617	.	GRCh37	2	220073125	220073125	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	60	177	0	ENST00000289528.5:c.528-23C>T		p.*176*	ENST00000289528	NM_001270999.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCACCTC	NONE	.	.	.	.	.	ENSP00000289528	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000289528	Transcript	.	.	ENSG00000158552	25206	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFN2B_HUMAN	ZFAND2B	HGNC	C9J1R6_HUMAN,B8ZZ56_HUMAN	.	UPI000004CC12	SNV	ZFAND2B,3_prime_UTR_variant,,ENST00000409206,;ZFAND2B,3_prime_UTR_variant,,ENST00000409594,;ZFAND2B,intron_variant,,ENST00000422255,;ZFAND2B,intron_variant,,ENST00000444522,;ZFAND2B,intron_variant,,ENST00000409217,;ZFAND2B,intron_variant,,ENST00000409336,;ZFAND2B,intron_variant,,ENST00000409097,;ZFAND2B,intron_variant,,ENST00000289528,;ZFAND2B,downstream_gene_variant,,ENST00000409319,;ABCB6,downstream_gene_variant,,ENST00000265316,;ZFAND2B,downstream_gene_variant,,ENST00000436556,;ABCB6,downstream_gene_variant,,ENST00000439002,;ZFAND2B,downstream_gene_variant,,ENST00000409412,;ZFAND2B,upstream_gene_variant,,ENST00000425849,;ABCB6,downstream_gene_variant,,ENST00000295750,;ZFAND2B,intron_variant,,ENST00000469596,;ZFAND2B,downstream_gene_variant,,ENST00000468301,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000486734,;ZFAND2B,intron_variant,,ENST00000475533,;ZFAND2B,intron_variant,,ENST00000448496,;ZFAND2B,intron_variant,,ENST00000464902,;ABCB6,downstream_gene_variant,,ENST00000448398,;ABCB6,downstream_gene_variant,,ENST00000497882,;ABCB6,downstream_gene_variant,,ENST00000485773,;ABCB6,downstream_gene_variant,,ENST00000487380,;ZFAND2B,downstream_gene_variant,,ENST00000489197,;ABCB6,downstream_gene_variant,,ENST00000443805,;ZFAND2B,downstream_gene_variant,,ENST00000476713,;ABCB6,downstream_gene_variant,,ENST00000492543,;ATG9A,downstream_gene_variant,,ENST00000446716,;	.	177	154	SUCCESS
DNAJB2	3300	.	GRCh37	2	220147607	220147607	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	86	0	ENST00000336576.5:c.401C>T	p.Ser134Leu	p.S134L	ENST00000336576	NM_006736.5	134	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS2439.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCAGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF206	.	.	ENSP00000338019	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000336576	Transcript	.	.	ENSG00000135924	5228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.42)	.	DNJB2_HUMAN	DNAJB2	HGNC	Q53QD7_HUMAN,C9JX00_HUMAN,C9JRD2_HUMAN,C9J1G2_HUMAN,B4DJY6_HUMAN	.	UPI000000DCD8	SNV	DNAJB2,missense_variant,p.Ser134Leu,ENST00000336576,;DNAJB2,missense_variant,p.Ser134Leu,ENST00000392086,;DNAJB2,missense_variant,p.Ser134Leu,ENST00000439026,;DNAJB2,missense_variant,p.Ser134Leu,ENST00000425450,;DNAJB2,intron_variant,,ENST00000392087,;TUBA4A,upstream_gene_variant,,ENST00000427737,;DNAJB2,downstream_gene_variant,,ENST00000442681,;DNAJB2,downstream_gene_variant,,ENST00000421532,;DNAJB2,non_coding_transcript_exon_variant,,ENST00000463463,;DNAJB2,upstream_gene_variant,,ENST00000470530,;DNAJB2,downstream_gene_variant,,ENST00000487855,;DNAJB2,non_coding_transcript_exon_variant,,ENST00000477917,;DNAJB2,non_coding_transcript_exon_variant,,ENST00000473750,;DNAJB2,non_coding_transcript_exon_variant,,ENST00000472019,;DNAJB2,downstream_gene_variant,,ENST00000485220,;DNAJB2,upstream_gene_variant,,ENST00000476254,;DNAJB2,downstream_gene_variant,,ENST00000482988,;DNAJB2,downstream_gene_variant,,ENST00000481815,;DNAJB2,downstream_gene_variant,,ENST00000480537,;	689	86	57	SUCCESS
SLC4A3	6508	.	GRCh37	2	220500183	220500183	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	68	338	0	ENST00000317151.3:c.1937T>A	p.Met646Lys	p.M646K	ENST00000317151		646	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS2446.1	2018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGATGACCA	NONE	.	.	TIGRFAM_domain:TIGR00834,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000362867	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.67)	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,missense_variant,p.Met646Lys,ENST00000373760,;SLC4A3,missense_variant,p.Met673Lys,ENST00000273063,;SLC4A3,missense_variant,p.Met646Lys,ENST00000317151,;SLC4A3,missense_variant,p.Met646Lys,ENST00000358055,;SLC4A3,missense_variant,p.Met673Lys,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,3_prime_UTR_variant,,ENST00000444906,;	2287	338	267	SUCCESS
SH3BP4	23677	.	GRCh37	2	235943728	235943728	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138995123	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	142	0	ENST00000344528.4:c.82G>A	p.Glu28Lys	p.E28K	ENST00000344528		28	Gaa/Aaa	0	A:0.0002	.	.	.	.	A	E/K	protein_coding	YES	CCDS2513.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGAAGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603	.	A:0.0001	ENSP00000386862	.	3/6	.	.	.	.	.	.	.	.	rs138995123	3/6	PASS	ENST00000409212	Transcript	.	.	ENSG00000130147	10826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.296)	.	deleterious_low_confidence(0.01)	.	SH3B4_HUMAN	SH3BP4	HGNC	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN	.	UPI000006DA47	SNV	SH3BP4,missense_variant,p.Glu28Lys,ENST00000409212,;SH3BP4,missense_variant,p.Glu28Lys,ENST00000344528,;SH3BP4,missense_variant,p.Glu28Lys,ENST00000444916,;SH3BP4,missense_variant,p.Glu28Lys,ENST00000392011,;SH3BP4,missense_variant,p.Glu28Lys,ENST00000454947,;SH3BP4,missense_variant,p.Glu28Lys,ENST00000416021,;SH3BP4,missense_variant,p.Glu28Lys,ENST00000446904,;	589	142	90	SUCCESS
EMILIN1	11117	.	GRCh37	2	27305559	27305559	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760821968	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	72	0	ENST00000380320.4:c.1120G>A	p.Gly374Ser	p.G374S	ENST00000380320	NM_007046.3	374	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS1733.1	1120	MUTECT|MUSE	.	TGGCCGGCTCA	NONE	byFrequency	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1	.	.	ENSP00000369677	.	4/8	.	.	.	.	.	.	.	.	rs760821968	4/8	PASS	ENST00000380320	Transcript	.	.	ENSG00000138080	19880	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	.	.	EMIL1_HUMAN	EMILIN1	HGNC	.	.	UPI000013D0F3	SNV	EMILIN1,missense_variant,p.Gly374Ser,ENST00000380320,;KHK,upstream_gene_variant,,ENST00000429697,;KHK,upstream_gene_variant,,ENST00000260599,;KHK,upstream_gene_variant,,ENST00000260598,;EMILIN1,upstream_gene_variant,,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000490823,;	1619	72	68	SUCCESS
HEATR5B	54497	.	GRCh37	2	37280689	37280689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	142	495	0	ENST00000233099.5:c.2461G>T	p.Ala821Ser	p.A821S	ENST00000233099	NM_019024.1	821	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33181.1	2461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCTGCT	NONE	.	.	hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663,Superfamily_domains:SSF48371	.	.	ENSP00000233099	.	17/36	.	.	.	.	.	.	.	.	.	17/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.13)	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,missense_variant,p.Ala821Ser,ENST00000233099,;HEATR5B,missense_variant,p.Ala821Ser,ENST00000354531,;HEATR5B,non_coding_transcript_exon_variant,,ENST00000467978,;	2557	495	348	SUCCESS
CCDC80	151887	.	GRCh37	3	112358141	112358141	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	74	0	ENST00000206423.3:c.612C>T	p.Thr204=	p.T204=	ENST00000206423	NM_199512.1	204	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2968.1	612	MUTECT|MUSE	.	TCGCTGGTGAT	NONE	.	.	Pfam_domain:PF13778	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,synonymous_variant,p.%3D,ENST00000206423,;CCDC80,synonymous_variant,p.%3D,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	1566	74	57	SUCCESS
POLQ	10721	.	GRCh37	3	121228964	121228964	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs984349817	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	130	0	ENST00000264233.5:c.1738G>A	p.Gly580Arg	p.G580R	ENST00000264233	NM_199420.3	580	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS33833.1	1738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCAAGCT	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48	.	.	ENSP00000264233	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Gly580Arg,ENST00000264233,;	1867	130	73	SUCCESS
TF	7018	.	GRCh37	3	133474311	133474312	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	69	0	ENST00000402696.3:c.609dup	p.Tyr204IlefsTer28	p.Y204Ifs*28	ENST00000402696	NM_001063.3	203	caa/cAaa	0	.	.	.	.	.	A	Q/QX	protein_coding	YES	CCDS3080.1	607-608	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAACCAATAC	NONE	.	.	Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408	.	.	ENSP00000385834	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	insertion	TF,frameshift_variant,p.Tyr77IlefsTer28,ENST00000482271,;TF,frameshift_variant,p.Tyr204IlefsTer28,ENST00000402696,;TF,frameshift_variant,p.Tyr77IlefsTer28,ENST00000264998,;TF,downstream_gene_variant,,ENST00000466911,;TFP1,downstream_gene_variant,,ENST00000460564,;TF,downstream_gene_variant,,ENST00000475382,;TF,non_coding_transcript_exon_variant,,ENST00000493011,;TF,intron_variant,,ENST00000485977,;TF,downstream_gene_variant,,ENST00000460531,;TF,downstream_gene_variant,,ENST00000494430,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000414694,;TF,downstream_gene_variant,,ENST00000498622,;RP11-404G16.2,upstream_gene_variant,,ENST00000474389,;	1092-1093	69	53	SUCCESS
RFTN1	23180	.	GRCh37	3	16411777	16411777	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	150	0	ENST00000334133.4:c.836T>C	p.Ile279Thr	p.I279T	ENST00000334133	NM_015150.1	279	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS33712.1	836	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGATCTCC	NONE	.	.	hmmpanther:PTHR17601:SF3,hmmpanther:PTHR17601,Pfam_domain:PF15250	.	.	ENSP00000334153	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000334133	Transcript	.	.	ENSG00000131378	30278	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	tolerated(0.07)	.	RFTN1_HUMAN	RFTN1	HGNC	C9JRN3_HUMAN,C9JWQ9_HUMAN,C9JHG2_HUMAN,B4E1H7_HUMAN	.	UPI00001C1DE7	SNV	RFTN1,missense_variant,p.Ile243Thr,ENST00000432519,;RFTN1,missense_variant,p.Ile279Thr,ENST00000334133,;RFTN1,non_coding_transcript_exon_variant,,ENST00000483671,;	1109	150	92	SUCCESS
WDR49	151790	.	GRCh37	3	167293897	167293897	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	13	136	0	ENST00000308378.3:c.295A>T	p.Arg99Trp	p.R99W	ENST00000308378	NM_178824.3	99	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3201.1	295	RADIA|MUTECT|MUSE|VARSCANS	.	TATCCTCTGGA	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000311343	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,missense_variant,p.Arg164Trp,ENST00000472600,;WDR49,missense_variant,p.Arg152Trp,ENST00000453925,;WDR49,missense_variant,p.Arg99Trp,ENST00000308378,;WDR49,missense_variant,p.Arg440Trp,ENST00000479765,;WDR49,intron_variant,,ENST00000466760,;WDR49,upstream_gene_variant,,ENST00000476376,;WDR49,3_prime_UTR_variant,,ENST00000460448,;	601	136	89	SUCCESS
DCUN1D1	54165	.	GRCh37	3	182683391	182683391	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1416142681	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	105	0	ENST00000292782.4:c.154A>G	p.Ile52Val	p.I52V	ENST00000292782	NM_020640.2	52	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3240.1	154	MUTECT|MUSE	.	TCGTATATAAA	NONE	.	.	hmmpanther:PTHR12281:SF4,hmmpanther:PTHR12281	.	.	ENSP00000292782	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000292782	Transcript	.	.	ENSG00000043093	18184	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.41)	.	DCNL1_HUMAN	DCUN1D1	HGNC	C9JVE2_HUMAN,C9JUW4_HUMAN,C9JRU6_HUMAN,C9J8R4_HUMAN,C9J0B2_HUMAN	.	UPI0000073D68	SNV	DCUN1D1,missense_variant,p.Ile52Val,ENST00000292782,;DCUN1D1,missense_variant,p.Ile37Val,ENST00000466812,;DCUN1D1,missense_variant,p.Ile37Val,ENST00000487822,;DCUN1D1,missense_variant,p.Ile37Val,ENST00000460412,;DCUN1D1,missense_variant,p.Ile37Val,ENST00000469954,;DCUN1D1,missense_variant,p.Ile37Val,ENST00000497606,;DCUN1D1,intron_variant,,ENST00000492563,;	308	105	71	SUCCESS
TMEM41A	90407	.	GRCh37	3	185213096	185213096	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770089968	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	107	0	ENST00000421852.1:c.281T>C	p.Leu94Ser	p.L94S	ENST00000421852	NM_080652.3	94	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS3271.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTAAAACA	NONE	.	.	hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF6,Pfam_domain:PF09335	.	.	ENSP00000406885	.	3/5	.	.	.	.	.	.	.	.	rs770089968	3/5	PASS	ENST00000421852	Transcript	.	.	ENSG00000163900	30544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TM41A_HUMAN	TMEM41A	HGNC	.	.	UPI0000048EAE	SNV	TMEM41A,missense_variant,p.Leu94Ser,ENST00000421852,;TMEM41A,intron_variant,,ENST00000296254,;TMEM41A,non_coding_transcript_exon_variant,,ENST00000475480,;TMEM41A,non_coding_transcript_exon_variant,,ENST00000467520,;TMEM41A,non_coding_transcript_exon_variant,,ENST00000467061,;TMEM41A,intron_variant,,ENST00000382227,;	377	107	110	SUCCESS
CCDC13	152206	.	GRCh37	3	42799704	42799704	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	21	114	0	ENST00000310232.6:c.134A>G	p.Asp45Gly	p.D45G	ENST00000310232	NM_144719.3	45	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2705.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGTCAGCT	NONE	.	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.35)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Asp45Gly,ENST00000310232,;CCDC13,non_coding_transcript_exon_variant,,ENST00000435327,;HIGD1A,3_prime_UTR_variant,,ENST00000431549,;CCDC13,non_coding_transcript_exon_variant,,ENST00000492806,;CCDC13,upstream_gene_variant,,ENST00000479576,;	218	114	95	SUCCESS
CYP8B1	1582	.	GRCh37	3	42917387	42917387	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	59	159	0	ENST00000316161.4:c.-79C>A		p.*27*	ENST00000316161	NM_004391.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2707.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGTCCAG	NONE	.	.	.	.	.	ENSP00000318867	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316161	Transcript	.	.	ENSG00000180432	2653	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP8B1_HUMAN	CYP8B1	HGNC	.	.	UPI000013FCE2	SNV	CYP8B1,5_prime_UTR_variant,,ENST00000437102,;CYP8B1,5_prime_UTR_variant,,ENST00000316161,;KRBOX1,intron_variant,,ENST00000426937,;KRBOX1,intron_variant,,ENST00000451200,;ACKR2,intron_variant,,ENST00000460855,;RP11-141M3.5,intron_variant,,ENST00000471537,;RP11-141M3.5,intron_variant,,ENST00000487368,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;	247	159	132	SUCCESS
BAP1	8314	.	GRCh37	3	52437795	52437795	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	41	0	ENST00000460680.1:c.1366C>T	p.Gln456Ter	p.Q456*	ENST00000460680	NM_004656.3	456	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS2853.1	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGGGACT	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,stop_gained,p.Gln438Ter,ENST00000296288,;BAP1,stop_gained,p.Gln456Ter,ENST00000460680,;BAP1,intron_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	1838	41	40	SUCCESS
BAP1	8314	.	GRCh37	3	52441304	52441304	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	45	175	0	ENST00000460680.1:c.466C>T	p.Gln156Ter	p.Q156*	ENST00000460680	NM_004656.3	156	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS2853.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTGCTTCT	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	7/17	.	.	.	.	.	.	.	.	COSM1137062	7/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,stop_gained,p.Gln156Ter,ENST00000296288,;BAP1,stop_gained,p.Gln156Ter,ENST00000460680,;BAP1,stop_gained,p.Gln77Ter,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,3_prime_UTR_variant,,ENST00000490917,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;BAP1,intron_variant,,ENST00000483984,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	938	175	123	SUCCESS
GRM7	2917	.	GRCh37	3	7620272	7620272	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	161	1	ENST00000357716.4:c.1679G>A	p.Cys560Tyr	p.C560Y	ENST00000357716	NM_000844.3	560	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS43042.1	1679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGCCAGC	NONE	.	.	hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,PROSITE_patterns:PS00980,Pfam_domain:PF07562	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Cys560Tyr,ENST00000402647,;GRM7,missense_variant,p.Cys560Tyr,ENST00000486284,;GRM7,missense_variant,p.Cys560Tyr,ENST00000389336,;GRM7,missense_variant,p.Cys560Tyr,ENST00000357716,;GRM7,missense_variant,p.Cys560Tyr,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Cys560Tyr,ENST00000389335,;GRM7,missense_variant,p.Cys560Tyr,ENST00000467425,;GRM7,missense_variant,p.Cys560Tyr,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	1953	162	123	SUCCESS
ROBO1	6091	.	GRCh37	3	78701075	78701075	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	108	0	ENST00000464233.1:c.2619C>T	p.Ala873=	p.A873=	ENST00000464233	NM_002941.3	873	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54611.1	2619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGGCATC	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000420321	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,synonymous_variant,p.%3D,ENST00000464233,;ROBO1,synonymous_variant,p.%3D,ENST00000495273,;ROBO1,synonymous_variant,p.%3D,ENST00000436010,;ROBO1,synonymous_variant,p.%3D,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	2733	108	97	SUCCESS
OR5K1	26339	.	GRCh37	3	98189208	98189208	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	193	0	ENST00000332650.5:c.788A>C	p.Asn263Thr	p.N263T	ENST00000332650	NM_001004736.2	263	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS43115.1	788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAATTTGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000373193	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332650	Transcript	.	.	ENSG00000232382	8349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	tolerated(0.11)	.	OR5K1_HUMAN	OR5K1	HGNC	.	.	UPI000013F5A3	SNV	OR5K1,missense_variant,p.Asn263Thr,ENST00000332650,;	885	193	116	SUCCESS
TET2	54790	.	GRCh37	4	106160000	106160000	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	126	0	ENST00000380013.4:c.3409+1492C>A		p.*1137*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTACTTTGC	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000413648,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000513237,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,intron_variant,,ENST00000265149,;	.	126	110	SUCCESS
QRFPR	84109	.	GRCh37	4	122251606	122251606	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781439706	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	68	0	ENST00000394427.2:c.870T>A	p.His290Gln	p.H290Q	ENST00000394427	NM_198179.2	290	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS3719.1	870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACATGGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000377948	.	5/6	.	.	.	.	.	.	.	.	rs781439706	5/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,missense_variant,p.His290Gln,ENST00000394427,;QRFPR,missense_variant,p.Cys253Ser,ENST00000334383,;Y_RNA,upstream_gene_variant,,ENST00000384419,;QRFPR,3_prime_UTR_variant,,ENST00000507331,;	1282	68	46	SUCCESS
FAT4	79633	.	GRCh37	4	126398471	126398471	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	93	0	ENST00000394329.3:c.12455C>T	p.Ala4152Val	p.A4152V	ENST00000394329	NM_024582.4	4152	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3732.3	12455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCACAAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000377862	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ala4152Val,ENST00000394329,;FAT4,missense_variant,p.Ala2415Val,ENST00000335110,;	12468	93	74	SUCCESS
JADE1	79960	.	GRCh37	4	129792936	129792936	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	22	227	0	ENST00000226319.6:c.2048A>G	p.Lys683Arg	p.K683R	ENST00000226319	NM_199320.2	683	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS34062.1	2048	RADIA|MUTECT|MUSE|VARSCANS	.	TCACAAGCCTC	NONE	.	.	hmmpanther:PTHR13793:SF79,hmmpanther:PTHR13793	.	.	ENSP00000226319	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000226319	Transcript	.	.	ENSG00000077684	30027	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	tolerated(0.25)	.	JADE1_HUMAN	JADE1	HGNC	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN	.	UPI000020B45B	SNV	JADE1,missense_variant,p.Lys671Arg,ENST00000452328,;JADE1,missense_variant,p.Lys683Arg,ENST00000512960,;JADE1,missense_variant,p.Lys683Arg,ENST00000226319,;SCLT1,intron_variant,,ENST00000503565,;	2328	227	176	SUCCESS
PET112	0	.	GRCh37	4	152609877	152609877	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	91	0	ENST00000263985.6:c.1236A>G	p.Ile412Met	p.I412M	ENST00000263985	NM_004564.2	412	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3776.1	1236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTATCAC	NONE	.	.	HAMAP:MF_00121,hmmpanther:PTHR11659,hmmpanther:PTHR11659:SF0,Pfam_domain:PF02637,TIGRFAM_domain:TIGR00133,SMART_domains:SM00845,Superfamily_domains:SSF89095	.	.	ENSP00000263985	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000263985	Transcript	.	.	ENSG00000059691	8849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.55)	.	GATB_HUMAN	PET112	HGNC	.	.	UPI000012B14C	SNV	PET112,missense_variant,p.Ile412Met,ENST00000263985,;PET112,missense_variant,p.Ile371Met,ENST00000515812,;PET112,non_coding_transcript_exon_variant,,ENST00000513504,;PET112,upstream_gene_variant,,ENST00000507592,;PET112,missense_variant,p.Ile77Met,ENST00000510720,;PET112,3_prime_UTR_variant,,ENST00000503160,;PET112,non_coding_transcript_exon_variant,,ENST00000515564,;PET112,downstream_gene_variant,,ENST00000505211,;	1277	92	71	SUCCESS
CLCN3	1182	.	GRCh37	4	170618374	170618374	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	33	196	0	ENST00000513761.1:c.1052G>T	p.Arg351Ile	p.R351I	ENST00000513761	NM_001829.3	351	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS34100.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAGATCAT	NONE	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Pfam_domain:PF00654,Gene3D:1otsB00,Superfamily_domains:SSF81340	.	.	ENSP00000261514	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000347613	Transcript	.	.	ENSG00000109572	2021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CLCN3_HUMAN	CLCN3	HGNC	D6RIX3_HUMAN,D6RDZ6_HUMAN	.	UPI000015F952	SNV	CLCN3,missense_variant,p.Arg334Ile,ENST00000504131,;CLCN3,missense_variant,p.Arg33Ile,ENST00000515420,;CLCN3,missense_variant,p.Arg351Ile,ENST00000347613,;CLCN3,missense_variant,p.Arg351Ile,ENST00000513761,;CLCN3,missense_variant,p.Arg324Ile,ENST00000507875,;CLCN3,missense_variant,p.Arg324Ile,ENST00000360642,;	1606	196	130	SUCCESS
TRIML1	339976	.	GRCh37	4	189064806	189064806	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	21	0	ENST00000332517.3:c.736-186T>A		p.*246*	ENST00000332517	NM_178556.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3851.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTGTGTT	NONE	.	.	.	.	.	ENSP00000327738	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000332517	Transcript	.	.	ENSG00000184108	26698	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIML_HUMAN	TRIML1	HGNC	.	.	UPI000006FC8A	SNV	TRIML1,intron_variant,,ENST00000332517,;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,;TRIML1,upstream_gene_variant,,ENST00000512233,;	.	21	17	SUCCESS
ATP8A1	10396	.	GRCh37	4	42424896	42424896	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	36	0	ENST00000381668.5:c.3233A>T	p.Lys1078Ile	p.K1078I	ENST00000381668	NM_006095.2	1078	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS3466.1	3233	MUTECT|MUSE	.	ATGTTTTAAAA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000371084	.	35/37	.	.	.	.	.	.	.	.	.	35/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Lys1078Ile,ENST00000381668,;ATP8A1,missense_variant,p.Lys1063Ile,ENST00000264449,;ATP8A1,3_prime_UTR_variant,,ENST00000514372,;ATP8A1,downstream_gene_variant,,ENST00000506602,;	3465	36	36	SUCCESS
GNPDA2	132789	.	GRCh37	4	44713036	44713036	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	101	0	ENST00000295448.3:c.528A>T	p.Gly176=	p.G176=	ENST00000295448	NM_138335.2	176	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3469.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTCCATC	NONE	.	.	HAMAP:MF_01241,hmmpanther:PTHR11280:SF4,hmmpanther:PTHR11280,TIGRFAM_domain:TIGR00502,Pfam_domain:PF01182,Gene3D:3.40.50.1360,Superfamily_domains:SSF100950	.	.	ENSP00000295448	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000295448	Transcript	.	.	ENSG00000163281	21526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNPI2_HUMAN	GNPDA2	HGNC	.	.	UPI000004D013	SNV	GNPDA2,synonymous_variant,p.%3D,ENST00000507534,;GNPDA2,synonymous_variant,p.%3D,ENST00000507917,;GNPDA2,synonymous_variant,p.%3D,ENST00000295448,;GNPDA2,synonymous_variant,p.%3D,ENST00000609092,;GNPDA2,synonymous_variant,p.%3D,ENST00000509756,;GNPDA2,upstream_gene_variant,,ENST00000608855,;GNPDA2,intron_variant,,ENST00000511187,;	685	101	79	SUCCESS
ALB	213	.	GRCh37	4	74279249	74279251	+	inframe_deletion	In_Frame_Del	DEL	ATG	ATG	-	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	ATG	ATG	.	.	.	.	.	.	.	.	.	.	.	.	.	89	36	181	0	ENST00000295897.4:c.960_962del	p.Asp320del	p.D320del	ENST00000295897	NM_000477.5	319	aATGat/aat	0	.	.	.	.	.	-	ND/N	protein_coding	YES	CCDS3555.1	956-958	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGAAAATGATGAG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	8/15	.	.	.	.	.	.	.	.	COSM1619053	8/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,inframe_deletion,p.Asp320del,ENST00000509063,;ALB,inframe_deletion,p.Asp165del,ENST00000511370,;ALB,inframe_deletion,p.Asp128del,ENST00000415165,;ALB,inframe_deletion,p.Asp320del,ENST00000295897,;ALB,inframe_deletion,p.Asp170del,ENST00000503124,;ALB,inframe_deletion,p.Asp205del,ENST00000401494,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	1045-1047	181	125	SUCCESS
AQPEP	0	.	GRCh37	5	115298661	115298661	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764516079	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	128	0	ENST00000357872.4:c.347G>A	p.Arg116Lys	p.R116K	ENST00000357872	NM_173800.4	116	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS4124.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGGCCCG	NONE	.	.	Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533	.	.	ENSP00000350541	.	1/20	.	.	.	.	.	.	.	.	rs764516079	1/20	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.2)	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,missense_variant,p.Arg116Lys,ENST00000357872,;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,missense_variant,p.Arg116Lys,ENST00000504467,;	471	128	74	SUCCESS
SPOCK1	6695	.	GRCh37	5	136476319	136476319	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	103	0	ENST00000394945.1:c.297C>T	p.Thr99=	p.T99=	ENST00000394945	NM_004598.3	99	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4191.1	297	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGTCAC	NONE	.	.	hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036	.	.	ENSP00000378401	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000394945	Transcript	.	.	ENSG00000152377	11251	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TICN1_HUMAN	SPOCK1	HGNC	D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN	.	UPI0000136F50	SNV	SPOCK1,synonymous_variant,p.%3D,ENST00000394945,;SPOCK1,synonymous_variant,p.%3D,ENST00000282223,;SPOCK1,synonymous_variant,p.%3D,ENST00000505690,;SPOCK1,5_prime_UTR_variant,,ENST00000510689,;SPOCK1,5_prime_UTR_variant,,ENST00000510405,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000503916,;	467	103	85	SUCCESS
PCDHA2	56146	.	GRCh37	5	140176112	140176112	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782494751	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	105	0	ENST00000526136.1:c.1563G>T	p.Gln521His	p.Q521H	ENST00000526136	NM_018905.2	521	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS54914.1	1563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCCGCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	rs782494751	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.554)	.	deleterious_low_confidence(0.01)	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,missense_variant,p.Gln521His,ENST00000378132,;PCDHA2,missense_variant,p.Gln521His,ENST00000526136,;PCDHA2,missense_variant,p.Gln521His,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,upstream_gene_variant,,ENST00000532566,;PCDHA3,upstream_gene_variant,,ENST00000522353,;	1563	105	95	SUCCESS
PCDHB1	29930	.	GRCh37	5	140432819	140432819	+	synonymous_variant	Silent	SNP	C	C	A	rs1554267422	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	121	1	ENST00000306549.3:c.1764C>A	p.Thr588=	p.T588=	ENST00000306549	NM_013340.2	588	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4243.1	1764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCAAAGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	COSM166728	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,synonymous_variant,p.%3D,ENST00000306549,;	1841	122	83	SUCCESS
PDE6A	5145	.	GRCh37	5	149323845	149323845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	95	0	ENST00000255266.5:c.392A>T	p.Glu131Val	p.E131V	ENST00000255266	NM_000440.2	131	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4299.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCTCTTGG	NONE	.	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Pfam_domain:PF01590,Gene3D:3.30.450.40,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000255266	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,missense_variant,p.Glu131Val,ENST00000255266,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	512	95	79	SUCCESS
EGFLAM	133584	.	GRCh37	5	38431311	38431311	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	111	1	ENST00000354891.3:c.2087A>T	p.His696Leu	p.H696L	ENST00000354891	NM_001205301.1	696	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS56363.1	2087	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCACGAGC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000346964	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.03)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.His462Leu,ENST00000336740,;EGFLAM,missense_variant,p.His696Leu,ENST00000354891,;EGFLAM,missense_variant,p.His62Leu,ENST00000397202,;EGFLAM,missense_variant,p.His696Leu,ENST00000322350,;EGFLAM-AS1,upstream_gene_variant,,ENST00000508986,;CTD-2108O9.4,upstream_gene_variant,,ENST00000513087,;	2433	112	82	SUCCESS
NNT	23530	.	GRCh37	5	43649288	43649288	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs199609080	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	151	0	ENST00000264663.5:c.1484A>G	p.Asn495Ser	p.N495S	ENST00000264663	NM_012343.3	495	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3949.1	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAATCTAG	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,TIGRFAM_domain:TIGR00561	.	.	ENSP00000264663	.	11/22	.	.	.	.	.	.	.	.	rs199609080	11/22	PASS	ENST00000264663	Transcript	1	.	ENSG00000112992	7863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	tolerated(0.41)	.	NNTM_HUMAN	NNT	HGNC	E9PCX7_HUMAN,D6RHU2_HUMAN,D6RCR6_HUMAN,D6RAI5_HUMAN	.	UPI000013D54F	SNV	NNT,missense_variant,p.Asn364Ser,ENST00000512996,;NNT,missense_variant,p.Asn495Ser,ENST00000344920,;NNT,missense_variant,p.Asn495Ser,ENST00000264663,;NNT,downstream_gene_variant,,ENST00000503651,;NNT,downstream_gene_variant,,ENST00000506893,;NNT,upstream_gene_variant,,ENST00000513390,;	1705	151	111	SUCCESS
IL31RA	133396	.	GRCh37	5	55149246	55149246	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	29	0	ENST00000447346.2:c.63+1785G>T		p.*21*	ENST00000447346	NM_001242636.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3970.2	.	MUTECT|MUSE	.	AATCAGAGTGG	NONE	.	.	.	.	.	ENSP00000415900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000447346	Transcript	1	.	ENSG00000164509	18969	.	.	MODIFIER	1/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL31R_HUMAN	IL31RA	HGNC	.	.	UPI00001A41DC	SNV	IL31RA,5_prime_UTR_variant,,ENST00000396834,;IL31RA,5_prime_UTR_variant,,ENST00000297015,;IL31RA,intron_variant,,ENST00000447346,;IL31RA,intron_variant,,ENST00000359040,;IL31RA,intron_variant,,ENST00000396836,;IL31RA,upstream_gene_variant,,ENST00000490985,;IL31RA,upstream_gene_variant,,ENST00000354961,;	.	29	27	SUCCESS
PLK2	10769	.	GRCh37	5	57755876	57755876	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	42	0	ENST00000274289.3:c.-90C>T		p.*30*	ENST00000274289	NM_006622.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3974.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGGTGCC	NONE	.	.	.	.	.	ENSP00000274289	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000274289	Transcript	.	.	ENSG00000145632	19699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLK2_HUMAN	PLK2	HGNC	.	.	UPI0000135B35	SNV	PLK2,5_prime_UTR_variant,,ENST00000274289,;PLK2,upstream_gene_variant,,ENST00000502671,;PLK2,non_coding_transcript_exon_variant,,ENST00000504196,;PLK2,upstream_gene_variant,,ENST00000509422,;PLK2,upstream_gene_variant,,ENST00000505244,;PLK2,upstream_gene_variant,,ENST00000514306,;PLK2,upstream_gene_variant,,ENST00000503115,;PLK2,upstream_gene_variant,,ENST00000515415,;PLK2,upstream_gene_variant,,ENST00000509555,;PLK2,upstream_gene_variant,,ENST00000511326,;PLK2,upstream_gene_variant,,ENST00000503378,;PLK2,upstream_gene_variant,,ENST00000508300,;PLK2,upstream_gene_variant,,ENST00000510629,;PLK2,upstream_gene_variant,,ENST00000503713,;	212	43	23	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73048892	73048892	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	77	0	ENST00000426542.2:c.340A>T	p.Ser114Cys	p.S114C	ENST00000426542		114	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS47231.2	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCCAC	NONE	.	.	hmmpanther:PTHR22825:SF4,hmmpanther:PTHR22825	.	.	ENSP00000441913	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,missense_variant,p.Ser114Cys,ENST00000437974,;ARHGEF28,missense_variant,p.Ser114Cys,ENST00000513042,;ARHGEF28,missense_variant,p.Ser114Cys,ENST00000287898,;ARHGEF28,missense_variant,p.Ser114Cys,ENST00000545377,;ARHGEF28,missense_variant,p.Ser114Cys,ENST00000426542,;ARHGEF28,missense_variant,p.Ser114Cys,ENST00000296794,;ARHGEF28,downstream_gene_variant,,ENST00000509848,;	516	77	55	SUCCESS
AIM1	0	.	GRCh37	6	106967348	106967348	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	48	218	0	ENST00000369066.3:c.1041C>A	p.Val347=	p.V347=	ENST00000369066	NM_001624.2	347	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34506.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTCTCGGA	NONE	.	.	hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818	.	.	ENSP00000358062	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,synonymous_variant,p.%3D,ENST00000369066,;	1528	218	161	SUCCESS
FRK	2444	.	GRCh37	6	116263781	116263781	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	156	0	ENST00000606080.1:c.1314A>G	p.Thr438=	p.T438=	ENST00000606080	NM_002031.2	438	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS5103.1	1314	RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTGTCAT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418:SF22,hmmpanther:PTHR24418,PROSITE_profiles:PS50011	.	.	ENSP00000476145	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000606080	Transcript	.	.	ENSG00000111816	3955	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRK_HUMAN	FRK	HGNC	.	.	UPI000012AC35	SNV	FRK,synonymous_variant,p.%3D,ENST00000606080,;FRK,synonymous_variant,p.%3D,ENST00000538210,;	1761	156	100	SUCCESS
PTPRK	5796	.	GRCh37	6	128388924	128388924	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	69	0	ENST00000368215.3:c.1897G>T	p.Val633Phe	p.V633F	ENST00000368215		633	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS47473.1	1897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAACAATCT	NONE	.	.	hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134	.	.	ENSP00000357196	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	SNV	PTPRK,missense_variant,p.Val633Phe,ENST00000532331,;PTPRK,missense_variant,p.Val633Phe,ENST00000368226,;PTPRK,missense_variant,p.Val633Phe,ENST00000368215,;PTPRK,missense_variant,p.Val633Phe,ENST00000368207,;PTPRK,missense_variant,p.Val633Phe,ENST00000368210,;PTPRK,missense_variant,p.Val633Phe,ENST00000368227,;PTPRK,missense_variant,p.Val633Phe,ENST00000368213,;PTPRK,upstream_gene_variant,,ENST00000415046,;RP11-103C16.2,intron_variant,,ENST00000417390,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,upstream_gene_variant,,ENST00000434424,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	2122	69	57	SUCCESS
LRRC16A	0	.	GRCh37	6	25594713	25594713	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	69	160	0	ENST00000329474.6:c.3077T>C	p.Val1026Ala	p.V1026A	ENST00000329474	NM_001173977.1	1026	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS54973.1	3077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGTAGATG	NONE	.	.	hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39	.	.	ENSP00000331983	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000329474	Transcript	.	.	ENSG00000079691	21581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	deleterious(0.01)	.	LR16A_HUMAN	LRRC16A	HGNC	.	.	UPI00004588AB	SNV	LRRC16A,missense_variant,p.Val1026Ala,ENST00000329474,;	3445	160	159	SUCCESS
LRFN2	57497	.	GRCh37	6	40399807	40399807	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	77	0	ENST00000338305.6:c.1046C>A	p.Thr349Asn	p.T349N	ENST00000338305	NM_020737.1	349	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS34443.1	1046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGGTGATG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25,PROSITE_profiles:PS50835	.	.	ENSP00000345985	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Thr349Asn,ENST00000338305,;	1589	77	86	SUCCESS
VWDE	221806	.	GRCh37	7	12414847	12414847	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	79	0	ENST00000275358.3:c.1031A>G	p.Glu344Gly	p.E344G	ENST00000275358	NM_001135924.1	344	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS47544.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTCTCTA	NONE	.	.	.	.	.	ENSP00000275358	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.21)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Glu344Gly,ENST00000275358,;VWDE,missense_variant,p.Glu344Gly,ENST00000452576,;VWDE,intron_variant,,ENST00000521169,;VWDE,downstream_gene_variant,,ENST00000326715,;	1220	79	61	SUCCESS
EPHB6	2051	.	GRCh37	7	142564355	142564355	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	73	0	ENST00000392957.2:c.1579G>A	p.Asp527Asn	p.D527N	ENST00000392957	NM_004445.4	527	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS5873.2	1579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATGACCAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF300,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376684	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000392957	Transcript	.	.	ENSG00000106123	3396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	EPHB6_HUMAN	EPHB6	HGNC	.	.	UPI00006635A8	SNV	EPHB6,missense_variant,p.Asp527Asn,ENST00000442129,;EPHB6,missense_variant,p.Asp250Asn,ENST00000411471,;EPHB6,missense_variant,p.Asp527Asn,ENST00000392957,;TRPV6,downstream_gene_variant,,ENST00000359396,;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;EPHB6,upstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000463646,;TRPV6,downstream_gene_variant,,ENST00000485138,;TRPV6,downstream_gene_variant,,ENST00000487077,;EPHB6,upstream_gene_variant,,ENST00000471581,;	2366	73	55	SUCCESS
PRPS1L1	221823	.	GRCh37	7	18066745	18066745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	40	167	0	ENST00000506618.2:c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000506618	NM_175886.2	221	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47552.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCATCTA	NONE	.	.	HAMAP:MF_00583_B,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF40,TIGRFAM_domain:TIGR01251,Gene3D:3.40.50.2020,Pfam_domain:PF14572,Superfamily_domains:SSF53271	.	.	ENSP00000424595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000506618	Transcript	.	.	ENSG00000229937	9463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	PRPS1L1	HGNC	.	.	UPI0001881450	SNV	PRPS1L1,missense_variant,p.Asp221Tyr,ENST00000506618,;	742	167	105	SUCCESS
NME8	51314	.	GRCh37	7	37905206	37905206	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs534679328	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	46	238	0	ENST00000199447.4:c.608G>A	p.Arg203Gln	p.R203Q	ENST00000199447	NM_016616.4	203	cGa/cAa	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS5452.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCGAATAG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11349:SF45,hmmpanther:PTHR11349,Gene3D:3.30.70.141,Pfam_domain:PF00334,Superfamily_domains:SSF54919	A:0	.	ENSP00000199447	A:0	10/18	.	.	.	.	.	.	.	.	rs534679328,COSM1176522	10/18	PASS	ENST00000199447	Transcript	.	A:0.0010	ENSG00000086288	16473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	A:0.0051	tolerated(0.86)	0,1	TXND3_HUMAN	NME8	HGNC	.	.	UPI00000700CB	SNV	NME8,missense_variant,p.Arg203Gln,ENST00000440017,;NME8,missense_variant,p.Arg203Gln,ENST00000199447,;NME8,missense_variant,p.Arg148Gln,ENST00000444718,;EPDR1,intron_variant,,ENST00000476620,;NME8,downstream_gene_variant,,ENST00000455500,;NME8,intron_variant,,ENST00000426106,;	980	238	156	SUCCESS
NPC1L1	29881	.	GRCh37	7	44555418	44555418	+	synonymous_variant	Silent	SNP	G	G	A	rs780659447	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	15	132	0	ENST00000289547.4:c.3861C>T	p.Val1287=	p.V1287=	ENST00000289547	NM_013389.2	1287	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5491.1	3861	RADIA|MUTECT|MUSE	.	AGGATGACGGG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF82866,Gene3D:2j8sB01,Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	19/20	.	.	.	.	.	.	.	.	rs780659447	19/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,synonymous_variant,p.%3D,ENST00000546276,;NPC1L1,synonymous_variant,p.%3D,ENST00000381160,;NPC1L1,synonymous_variant,p.%3D,ENST00000289547,;AC004938.5,upstream_gene_variant,,ENST00000438468,;	3917	132	107	SUCCESS
MLXIPL	51085	.	GRCh37	7	73020079	73020096	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	GTCAGCATTGCCGACGTA	GTCAGCATTGCCGACGTA	-	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	GTCAGCATTGCCGACGTA	GTCAGCATTGCCGACGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	120	0	ENST00000313375.3:c.823_840del	p.Tyr275_Asp280del	p.Y275_D280del	ENST00000313375	NM_032953.2	275	TACGTCGGCAATGCTGAC/-	0	.	.	.	.	.	-	YVGNAD/-	protein_coding	YES	CCDS5553.1	823-840	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCATGTCAGCATTGCCGACGTAGGCTG	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	deletion	MLXIPL,inframe_deletion,p.Tyr275_Asp280del,ENST00000313375,;MLXIPL,inframe_deletion,p.Tyr182_Asp187del,ENST00000434326,;MLXIPL,inframe_deletion,p.Tyr182_Asp187del,ENST00000395189,;MLXIPL,inframe_deletion,p.Tyr275_Asp280del,ENST00000429400,;MLXIPL,inframe_deletion,p.Tyr275_Asp280del,ENST00000354613,;MLXIPL,inframe_deletion,p.Tyr275_Asp280del,ENST00000414749,;MLXIPL,intron_variant,,ENST00000453275,;MLXIPL,downstream_gene_variant,,ENST00000456640,;MLXIPL,inframe_deletion,p.Tyr275_Asp280del,ENST00000345114,;MLXIPL,splice_region_variant,,ENST00000476404,;MLXIPL,splice_region_variant,,ENST00000488212,;	871-888	120	81	SUCCESS
MAGI2	9863	.	GRCh37	7	77797303	77797303	+	synonymous_variant	Silent	SNP	G	G	A	rs771635003	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	21	184	0	ENST00000354212.4:c.2526C>T	p.Ile842=	p.I842=	ENST00000354212	NM_012301.3	842	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5594.1	2526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGATGAC	NONE	byFrequency	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000346151	.	15/22	.	.	.	.	.	.	.	.	rs771635003	15/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,synonymous_variant,p.%3D,ENST00000354212,;MAGI2,synonymous_variant,p.%3D,ENST00000419488,;MAGI2,synonymous_variant,p.%3D,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000522342,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,upstream_gene_variant,,ENST00000524268,;	2780	184	115	SUCCESS
MCM7	4176	.	GRCh37	7	99699036	99699036	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	41	0	ENST00000303887.5:c.-119G>C		p.*40*	ENST00000303887	NM_001278595.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5683.1	.	MUTECT|MUSE	.	GTCGCCCCCCA	NONE	.	.	.	.	.	ENSP00000307288	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,5_prime_UTR_variant,,ENST00000303887,;MCM7,5_prime_UTR_variant,,ENST00000343023,;AP4M1,upstream_gene_variant,,ENST00000422582,;MCM7,upstream_gene_variant,,ENST00000425308,;AP4M1,upstream_gene_variant,,ENST00000359593,;MCM7,upstream_gene_variant,,ENST00000354230,;AP4M1,upstream_gene_variant,,ENST00000450807,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000421755,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000439416,;AP4M1,upstream_gene_variant,,ENST00000445295,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,upstream_gene_variant,,ENST00000478501,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,upstream_gene_variant,,ENST00000467516,;AP4M1,upstream_gene_variant,,ENST00000445208,;MCM7,upstream_gene_variant,,ENST00000465738,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,upstream_gene_variant,,ENST00000491245,;MCM7,upstream_gene_variant,,ENST00000463722,;MCM7,upstream_gene_variant,,ENST00000477372,;MCM7,upstream_gene_variant,,ENST00000485286,;AP4M1,upstream_gene_variant,,ENST00000394061,;MCM7,upstream_gene_variant,,ENST00000465688,;MCM7,upstream_gene_variant,,ENST00000489841,;AP4M1,upstream_gene_variant,,ENST00000489387,;AP4M1,upstream_gene_variant,,ENST00000479916,;	528	41	38	SUCCESS
CYP11B1	1584	.	GRCh37	8	143957288	143957288	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	61	263	0	ENST00000292427.4:c.961T>A	p.Phe321Ile	p.F321I	ENST00000292427	NM_000497.3	321	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS6392.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAACACCG	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385	.	.	ENSP00000292427	.	6/9	.	.	.	.	.	.	.	.	HM972175	6/9	PASS	ENST00000292427	Transcript	1	.	ENSG00000160882	2591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.055)	.	tolerated(0.21)	.	C11B1_HUMAN	CYP11B1	HGNC	Q8TE40_HUMAN,Q8TE38_HUMAN	.	UPI000013E0BA	SNV	CYP11B1,missense_variant,p.Phe321Ile,ENST00000517471,;CYP11B1,missense_variant,p.Phe321Ile,ENST00000292427,;CYP11B1,missense_variant,p.Phe392Ile,ENST00000377675,;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	994	263	237	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145759534	145759534	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	44	0	ENST00000276826.5:c.2574A>T	p.Ala858=	p.A858=	ENST00000276826		858	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34971.1	2667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTGCCTT	NONE	.	.	hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177,Low_complexity_(Seg):seg	.	.	ENSP00000366522	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,synonymous_variant,p.%3D,ENST00000540274,;ARHGAP39,synonymous_variant,p.%3D,ENST00000276826,;ARHGAP39,synonymous_variant,p.%3D,ENST00000377307,;ARHGAP39,downstream_gene_variant,,ENST00000528810,;	2752	44	45	SUCCESS
ZNF252P	286101	.	GRCh37	8	146202295	146202295	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	16	0	ENST00000426361.2:n.1890C>T		p.*630*	ENST00000426361				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GGTGTGACCCC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426361	Transcript	.	.	ENSG00000196922	13046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF252P	HGNC	.	.	.	SNV	ZNF252P,non_coding_transcript_exon_variant,,ENST00000426361,;ZNF252P,downstream_gene_variant,,ENST00000528392,;ZNF252P,downstream_gene_variant,,ENST00000527222,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000427606,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000592792,;ZNF252P,non_coding_transcript_exon_variant,,ENST00000355436,;	1890	16	25	SUCCESS
PRKDC	5591	.	GRCh37	8	48802883	48802884	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCA	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	40	44	111	0	ENST00000314191.2:c.4000_4002dup	p.Cys1334dup	p.C1334dup	ENST00000314191	NM_006904.6	1334	-/TGC	0	.	.	.	.	.	GCA	-/C	protein_coding	YES	.	4002-4003	INDELOCATOR*|VARSCANI*|PINDEL	.	AACGGTGCATT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	33/87	.	.	.	.	.	.	.	.	.	33/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	insertion	PRKDC,inframe_insertion,p.Cys1334dup,ENST00000338368,;PRKDC,inframe_insertion,p.Cys1334dup,ENST00000314191,;AC103686.1,downstream_gene_variant,,ENST00000390136,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	4059-4060	111	84	SUCCESS
PREX2	80243	.	GRCh37	8	68965351	68965351	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	16	136	1	ENST00000288368.4:c.963A>G	p.Gly321=	p.G321=	ENST00000288368	NM_024870.2	321	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS6201.1	963	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGACACAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000288368	.	9/40	.	.	.	.	.	.	.	.	.	9/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	1240	137	135	SUCCESS
TRAF1	7185	.	GRCh37	9	123675664	123675664	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	16	199	0	ENST00000373887.3:c.647C>T	p.Ala216Val	p.A216V	ENST00000373887	NM_005658.4	216	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6825.1	647	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGCCAGG	NONE	.	.	hmmpanther:PTHR10131:SF29,hmmpanther:PTHR10131,PIRSF_domain:PIRSF015614	.	.	ENSP00000362994	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000373887	Transcript	.	.	ENSG00000056558	12031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.287)	.	tolerated(0.15)	.	TRAF1_HUMAN	TRAF1	HGNC	.	.	UPI0000001079	SNV	TRAF1,missense_variant,p.Ala94Val,ENST00000546084,;TRAF1,missense_variant,p.Ala216Val,ENST00000540010,;TRAF1,missense_variant,p.Ala216Val,ENST00000373887,;	3093	199	147	SUCCESS
ABO	28	.	GRCh37	9	136131556	136131556	+	non_coding_transcript_exon_variant	RNA	DEL	G	G	-	rs184446112	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	122	0	ENST00000453660.2:n.573del		p.*191*	ENST00000453660				0	.	T:0	.	T:0	.	-	.	3prime_overlapping_ncrna	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATGCGGCGCA	NONE	by1000G	606	.	T:0.001	.	.	T:0	.	.	.	.	.	.	.	.	.	rs184446112	.	PASS	ENST00000606717	Transcript	.	T:0.0002	ENSG00000271875	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	.	RP11-430N14.4	Clone_based_vega_gene	.	.	.	deletion	RP11-430N14.4,upstream_gene_variant,,ENST00000606717,;ABO,non_coding_transcript_exon_variant,,ENST00000538324,;ABO,non_coding_transcript_exon_variant,,ENST00000453660,;	.	122	92	SUCCESS
GRIN1	2902	.	GRCh37	9	140040236	140040236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	111	0	ENST00000371561.3:c.452G>T	p.Trp151Leu	p.W151L	ENST00000371561	NM_007327.3	151	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS55354.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTGGTTTG	NONE	.	.	hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000360608	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.239)	.	deleterious(0.01)	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Trp151Leu,ENST00000371555,;GRIN1,missense_variant,p.Trp151Leu,ENST00000315048,;GRIN1,missense_variant,p.Trp151Leu,ENST00000371561,;GRIN1,missense_variant,p.Trp151Leu,ENST00000371550,;GRIN1,missense_variant,p.Trp151Leu,ENST00000350902,;GRIN1,missense_variant,p.Trp151Leu,ENST00000371553,;GRIN1,missense_variant,p.Trp151Leu,ENST00000371559,;GRIN1,missense_variant,p.Trp151Leu,ENST00000371546,;GRIN1,missense_variant,p.Trp151Leu,ENST00000371560,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;	458	111	75	SUCCESS
CACNA1B	774	.	GRCh37	9	140943745	140943745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750853843	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	97	0	ENST00000371372.1:c.3688G>A	p.Ala1230Thr	p.A1230T	ENST00000371372	NM_001243812.1	1230	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS59522.1	3688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGCCCTG	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000360423	.	24/47	.	.	.	.	.	.	.	.	rs750853843	24/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.01)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Ala1231Thr,ENST00000371355,;CACNA1B,missense_variant,p.Ala1231Thr,ENST00000371357,;CACNA1B,missense_variant,p.Ala422Thr,ENST00000277549,;CACNA1B,missense_variant,p.Ala1230Thr,ENST00000277551,;CACNA1B,missense_variant,p.Ala1230Thr,ENST00000371363,;CACNA1B,missense_variant,p.Ala1230Thr,ENST00000371372,;CACNA1B,3_prime_UTR_variant,,ENST00000545473,;	3833	97	72	SUCCESS
KCNV2	169522	.	GRCh37	9	2718411	2718411	+	synonymous_variant	Silent	SNP	G	G	A	rs763616186	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	130	0	ENST00000382082.3:c.672G>A	p.Ala224=	p.A224=	ENST00000382082	NM_133497.3	224	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6447.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGCAGGT	NONE	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	.	ENSP00000371514	.	1/2	.	.	.	.	.	.	.	.	rs763616186	1/2	PASS	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,synonymous_variant,p.%3D,ENST00000382082,;KIAA0020,downstream_gene_variant,,ENST00000490444,;	910	130	75	SUCCESS
KIAA1432	0	.	GRCh37	9	5770152	5770152	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	73	0	ENST00000414202.2:c.3490A>G	p.Ile1164Val	p.I1164V	ENST00000414202	NM_001206557.1	1164	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34982.2	3490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCATCTCC	NONE	.	.	hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10	.	.	ENSP00000416696	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000414202	Transcript	.	.	ENSG00000107036	17686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.53)	.	RIC1_HUMAN	KIAA1432	HGNC	.	.	UPI00002110DE	SNV	KIAA1432,missense_variant,p.Ile1048Val,ENST00000449720,;KIAA1432,missense_variant,p.Ile1056Val,ENST00000545641,;KIAA1432,missense_variant,p.Ile1085Val,ENST00000418622,;KIAA1432,missense_variant,p.Ile1164Val,ENST00000414202,;KIAA1432,downstream_gene_variant,,ENST00000381532,;KIAA1432,upstream_gene_variant,,ENST00000490816,;KIAA1432,downstream_gene_variant,,ENST00000251879,;KIAA1432,3_prime_UTR_variant,,ENST00000545243,;ERMP1,intron_variant,,ENST00000462592,;KIAA1432,downstream_gene_variant,,ENST00000276898,;	3681	73	64	SUCCESS
PRUNE2	158471	.	GRCh37	9	79319835	79319835	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	146	0	ENST00000376718.3:c.7355G>T	p.Gly2452Val	p.G2452V	ENST00000376718	NM_015225.2	2452	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS47982.1	7355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATCCAGGC	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	tolerated(0.19)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Gly1774Val,ENST00000426088,;PRUNE2,missense_variant,p.Gly2452Val,ENST00000376718,;PRUNE2,missense_variant,p.Gly2093Val,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	7479	146	107	SUCCESS
MID1	4281	.	GRCh37	X	10535300	10535300	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	151	0	ENST00000317552.4:c.288T>A	p.Ser96=	p.S96=	ENST00000317552	NM_033289.1	96	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14138.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAGAGTT	NONE	.	.	hmmpanther:PTHR24103:SF26,hmmpanther:PTHR24103	.	.	ENSP00000312678	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000317552	Transcript	.	.	ENSG00000101871	7095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI18_HUMAN	MID1	HGNC	C9JZJ7_HUMAN,C9J453_HUMAN	.	UPI000012F0E6	SNV	MID1,synonymous_variant,p.%3D,ENST00000413894,;MID1,synonymous_variant,p.%3D,ENST00000380780,;MID1,synonymous_variant,p.%3D,ENST00000380779,;MID1,synonymous_variant,p.%3D,ENST00000380787,;MID1,synonymous_variant,p.%3D,ENST00000423614,;MID1,synonymous_variant,p.%3D,ENST00000453318,;MID1,synonymous_variant,p.%3D,ENST00000380785,;MID1,synonymous_variant,p.%3D,ENST00000380782,;MID1,synonymous_variant,p.%3D,ENST00000317552,;	689	151	71	SUCCESS
PAK3	5063	.	GRCh37	X	110459745	110459745	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	105	0	ENST00000262836.4:c.1549A>T	p.Met517Leu	p.M517L	ENST00000262836	NM_001128173.1	517	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS48151.1	1612	MUTECT|MUSE|VARSCANS	.	TTGAGATGGAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000353864	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000360648	Transcript	.	.	ENSG00000077264	8592	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.037)	.	deleterious(0.01)	.	PAK3_HUMAN	PAK3	HGNC	B1AKS5_HUMAN	.	UPI0000D61DBC	SNV	PAK3,missense_variant,p.Met517Leu,ENST00000372010,;PAK3,missense_variant,p.Met538Leu,ENST00000360648,;PAK3,missense_variant,p.Met502Leu,ENST00000446737,;PAK3,missense_variant,p.Met502Leu,ENST00000425146,;PAK3,missense_variant,p.Met523Leu,ENST00000417227,;PAK3,missense_variant,p.Met538Leu,ENST00000518291,;PAK3,missense_variant,p.Met517Leu,ENST00000262836,;PAK3,missense_variant,p.Met502Leu,ENST00000372007,;PAK3,missense_variant,p.Met523Leu,ENST00000519681,;	1639	105	81	SUCCESS
SAGE1	55511	.	GRCh37	X	134988200	134988200	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	119	0	ENST00000324447.3:c.472A>T	p.Asn158Tyr	p.N158Y	ENST00000324447		158	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS14652.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAATATC	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Asn158Tyr,ENST00000370709,;SAGE1,missense_variant,p.Asn158Tyr,ENST00000535938,;SAGE1,missense_variant,p.Asn158Tyr,ENST00000324447,;SAGE1,intron_variant,,ENST00000537770,;	639	119	59	SUCCESS
MAP3K15	389840	.	GRCh37	X	19413261	19413261	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	135	0	ENST00000338883.4:c.2132A>T	p.Gln711Leu	p.Q711L	ENST00000338883	NM_001001671.3	711	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	2132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACTGAACG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000345629	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,missense_variant,p.Gln543Leu,ENST00000469203,;MAP3K15,missense_variant,p.Gln146Leu,ENST00000359173,;MAP3K15,missense_variant,p.Gln711Leu,ENST00000338883,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	2132	135	63	SUCCESS
ARSH	347527	.	GRCh37	X	2951122	2951122	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	119	0	ENST00000381130.2:c.1385G>T	p.Cys462Phe	p.C462F	ENST00000381130	NM_001011719.1	462	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS35198.1	1385	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTGCTATG	NONE	.	.	Superfamily_domains:SSF53649,Pfam_domain:PF14707,Gene3D:3.30.1120.10,hmmpanther:PTHR10342:SF72,hmmpanther:PTHR10342	.	.	ENSP00000370522	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000381130	Transcript	.	.	ENSG00000205667	32488	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ARSH_HUMAN	ARSH	HGNC	.	.	UPI00001D7C2E	SNV	ARSH,missense_variant,p.Cys462Phe,ENST00000381130,;	1385	119	85	SUCCESS
COL17A1	1308	.	GRCh37	10	105792488	105792488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	49	0	ENST00000353479.5:c.4382C>A	p.Pro1461Gln	p.P1461Q	ENST00000353479	NM_000494.3	1461	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS7554.1	4382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGGTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000340937	.	55/56	.	.	.	.	.	.	.	.	.	55/56	PASS	ENST00000353479	Transcript	1	.	ENSG00000065618	2194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COHA1_HUMAN	COL17A1	HGNC	.	.	UPI000006DB58	SNV	COL17A1,missense_variant,p.Pro1461Gln,ENST00000353479,;COL17A1,missense_variant,p.Pro1379Gln,ENST00000369733,;COL17A1,missense_variant,p.Pro30Gln,ENST00000433822,;SLK,downstream_gene_variant,,ENST00000369755,;SLK,downstream_gene_variant,,ENST00000335753,;	4673	49	43	SUCCESS
SORCS3	22986	.	GRCh37	10	106937875	106937875	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	97	0	ENST00000369699.4:c.-134+51T>A		p.*45*	ENST00000369699		651		0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7558.1	1953	MUTECT|MUSE|VARSCANS	.	TCGGTTCCTCT	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000358715	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,synonymous_variant,p.%3D,ENST00000393176,;SORCS3,synonymous_variant,p.%3D,ENST00000369701,;SORCS3,intron_variant,,ENST00000369699,;	2180	97	88	SUCCESS
DUSP5	1847	.	GRCh37	10	112258020	112258020	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	25	0	ENST00000369583.3:c.141C>T	p.Leu47=	p.L47=	ENST00000369583	NM_004419.3	47	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7566.1	141	RADIA|MUTECT|MUSE	.	AACCTCAACTC	NONE	.	.	Superfamily_domains:SSF52821,SMART_domains:SM00450,PIRSF_domain:PIRSF000939,Gene3D:3.40.250.10,Pfam_domain:PF00581,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF40,PROSITE_profiles:PS50206	.	.	ENSP00000358596	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369583	Transcript	.	.	ENSG00000138166	3071	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUS5_HUMAN	DUSP5	HGNC	.	.	UPI000013D0FF	SNV	DUSP5,synonymous_variant,p.%3D,ENST00000369583,;RP11-525A16.4,upstream_gene_variant,,ENST00000607952,;RP11-525A16.4,upstream_gene_variant,,ENST00000609514,;DUSP5,upstream_gene_variant,,ENST00000468749,;	425	25	12	SUCCESS
MKI67	4288	.	GRCh37	10	129900917	129900917	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs542413191	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	81	0	ENST00000368654.3:c.9187G>A	p.Glu3063Lys	p.E3063K	ENST00000368654	NM_002417.4	3063	Gaa/Aaa	0	.	G:0	.	G:0	.	T	E/K	protein_coding	YES	CCDS7659.1	9187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCCGCAG	NONE	by1000G	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	G:0.001	.	ENSP00000357643	G:0	13/15	.	.	.	.	.	.	.	.	rs542413191	13/15	PASS	ENST00000368654	Transcript	.	G:0.0002	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	G:0	tolerated(0.24)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Glu3063Lys,ENST00000368654,;MKI67,missense_variant,p.Glu2703Lys,ENST00000368653,;MKI67,non_coding_transcript_exon_variant,,ENST00000464771,;	9563	81	53	SUCCESS
TMEM72	643236	.	GRCh37	10	45429084	45429084	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	40	0	ENST00000389583.4:c.210-1G>T		p.X70_splice	ENST00000389583	NM_001123376.1	70		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41504.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGTGTC	NONE	.	.	.	.	.	ENSP00000374234	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389583	Transcript	.	.	ENSG00000187783	31658	.	.	HIGH	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM72_HUMAN	TMEM72	HGNC	.	.	UPI000036669E	SNV	TMEM72,splice_acceptor_variant,,ENST00000544540,;TMEM72,splice_acceptor_variant,,ENST00000389583,;RP11-285G1.9,upstream_gene_variant,,ENST00000425541,;TMEM72-AS1,intron_variant,,ENST00000450287,;TMEM72,splice_acceptor_variant,,ENST00000460364,;	.	40	41	SUCCESS
PCDH15	65217	.	GRCh37	10	56077047	56077047	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746638800	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	109	0	ENST00000320301.6:c.860C>A	p.Pro287His	p.P287H	ENST00000320301	NM_033056.3	287	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS44404.1	860	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGGTATG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	8/34	.	.	.	.	.	.	.	.	rs746638800	8/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Pro287His,ENST00000437009,;PCDH15,missense_variant,p.Pro265His,ENST00000395433,;PCDH15,missense_variant,p.Pro287His,ENST00000395445,;PCDH15,missense_variant,p.Pro287His,ENST00000320301,;PCDH15,missense_variant,p.Pro250His,ENST00000395432,;PCDH15,missense_variant,p.Pro287His,ENST00000373955,;PCDH15,missense_variant,p.Pro265His,ENST00000373957,;PCDH15,missense_variant,p.Pro287His,ENST00000395440,;PCDH15,missense_variant,p.Pro287His,ENST00000361849,;PCDH15,missense_variant,p.Pro287His,ENST00000395438,;PCDH15,missense_variant,p.Pro287His,ENST00000395446,;PCDH15,missense_variant,p.Pro287His,ENST00000395442,;PCDH15,missense_variant,p.Pro292His,ENST00000414778,;PCDH15,missense_variant,p.Pro287His,ENST00000373965,;PCDH15,missense_variant,p.Pro287His,ENST00000395430,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Pro287His,ENST00000448885,;PCDH15,missense_variant,p.Pro287His,ENST00000414367,;PCDH15,intron_variant,,ENST00000373956,;	1255	109	98	SUCCESS
IL2RA	3559	.	GRCh37	10	6061403	6061403	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776999325	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	54	0	ENST00000379959.3:c.715T>C	p.Tyr239His	p.Y239H	ENST00000379959	NM_000417.2	239	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS7076.1	715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTACTCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10573,hmmpanther:PTHR10573:SF0	.	.	ENSP00000369293	.	6/8	.	.	.	.	.	.	.	.	rs776999325	6/8	PASS	ENST00000379959	Transcript	1	.	ENSG00000134460	6008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.07)	.	IL2RA_HUMAN	IL2RA	HGNC	.	.	UPI000012D4A3	SNV	IL2RA,missense_variant,p.Tyr167His,ENST00000379954,;IL2RA,missense_variant,p.Tyr230His,ENST00000256876,;IL2RA,missense_variant,p.Tyr239His,ENST00000379959,;IL2RA,downstream_gene_variant,,ENST00000447847,;SNORA14,upstream_gene_variant,,ENST00000516113,;	889	54	48	SUCCESS
H2AFY2	0	.	GRCh37	10	71855484	71855484	+	synonymous_variant	Silent	SNP	C	C	T	rs988498144	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	83	0	ENST00000373255.4:c.663C>T	p.Ala221=	p.A221=	ENST00000373255	NM_018649.2	221	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7296.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCGAAAT	NONE	.	.	PROSITE_profiles:PS51154,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,PIRSF_domain:PIRSF037942,Superfamily_domains:SSF52949	.	.	ENSP00000362352	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000373255	Transcript	.	.	ENSG00000099284	14453	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2AW_HUMAN	H2AFY2	HGNC	.	.	UPI000003F001	SNV	H2AFY2,synonymous_variant,p.%3D,ENST00000373255,;H2AFY2,synonymous_variant,p.%3D,ENST00000455786,;AIFM2,downstream_gene_variant,,ENST00000373248,;	927	83	100	SUCCESS
MUC6	4588	.	GRCh37	11	1017614	1017614	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	130	0	ENST00000421673.2:c.5187C>T	p.Thr1729=	p.T1729=	ENST00000421673	NM_005961.2	1729	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS44513.1	5187	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGGTCAC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,Low_complexity_(Seg):seg	.	.	ENSP00000406861	.	31/33	.	.	.	.	.	.	.	.	COSM466189,COSM466190	31/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,synonymous_variant,p.%3D,ENST00000421673,;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;	5238	130	122	SUCCESS
DSCAML1	57453	.	GRCh37	11	117651413	117651413	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	44	0	ENST00000321322.6:c.339C>A	p.Pro113=	p.P113=	ENST00000321322	NM_020693.2	113	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8384.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTGGGGGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,synonymous_variant,p.%3D,ENST00000321322,;DSCAML1,5_prime_UTR_variant,,ENST00000525836,;DSCAML1,intron_variant,,ENST00000527706,;	341	44	43	SUCCESS
GRIK4	2900	.	GRCh37	11	120831719	120831719	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	52	0	ENST00000438375.2:c.1976T>G	p.Leu659Arg	p.L659R	ENST00000438375	NM_014619.2	659	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8433.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTGGCTG	NONE	.	.	hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000435648	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000527524	Transcript	.	.	ENSG00000149403	4582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRIK4_HUMAN	GRIK4	HGNC	.	.	UPI000013DB8D	SNV	GRIK4,missense_variant,p.Leu659Arg,ENST00000438375,;GRIK4,missense_variant,p.Leu659Arg,ENST00000527524,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	2263	52	82	SUCCESS
OPCML	4978	.	GRCh37	11	132812856	132812856	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	57	0	ENST00000331898.7:c.132C>A	p.Asn44Lys	p.N44K	ENST00000331898	NM_002545.3	44	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS8492.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGTTGTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831,PROSITE_profiles:PS50835	.	.	ENSP00000330862	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000331898	Transcript	.	.	ENSG00000183715	8143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	OPCM_HUMAN	OPCML	HGNC	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN	.	UPI0000055AE0	SNV	OPCML,missense_variant,p.Asn3Lys,ENST00000374778,;OPCML,missense_variant,p.Asn44Lys,ENST00000541867,;OPCML,missense_variant,p.Asn37Lys,ENST00000524381,;OPCML,missense_variant,p.Asn44Lys,ENST00000331898,;OPCML,non_coding_transcript_exon_variant,,ENST00000525412,;OPCML,intron_variant,,ENST00000529038,;	711	57	43	SUCCESS
PRDM11	56981	.	GRCh37	11	45203392	45203392	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	32	0	ENST00000530656.1:c.177G>T	p.Thr59=	p.T59=	ENST00000530656		59	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS58130.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACGGAGGT	NONE	.	.	hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF3	.	.	ENSP00000394314	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000424263	Transcript	.	.	ENSG00000019485	13996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD11_HUMAN	PRDM11	HGNC	E9PJ09_HUMAN	.	UPI000013FA3F	SNV	PRDM11,synonymous_variant,p.%3D,ENST00000530656,;PRDM11,synonymous_variant,p.%3D,ENST00000526442,;PRDM11,synonymous_variant,p.%3D,ENST00000263765,;PRDM11,synonymous_variant,p.%3D,ENST00000424263,;PRDM11,upstream_gene_variant,,ENST00000534751,;PRDM11,upstream_gene_variant,,ENST00000528980,;	320	32	45	SUCCESS
MAPK8IP1	9479	.	GRCh37	11	45926375	45926375	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772986120	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	52	0	ENST00000241014.2:c.1883A>T	p.Gln628Leu	p.Q628L	ENST00000241014	NM_005456.3	628	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS7916.1	1883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCAGGAGG	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00462,Pfam_domain:PF00640,Gene3D:2.30.29.30,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF44,PROSITE_profiles:PS01179	.	.	ENSP00000241014	.	9/12	.	.	.	.	.	.	.	.	rs772986120	9/12	PASS	ENST00000241014	Transcript	.	.	ENSG00000121653	6882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.31)	.	JIP1_HUMAN	MAPK8IP1	HGNC	Q59EU1_HUMAN,B4DJ64_HUMAN	.	UPI000003046D	SNV	MAPK8IP1,missense_variant,p.Gln618Leu,ENST00000395629,;MAPK8IP1,missense_variant,p.Gln628Leu,ENST00000241014,;PEX16,downstream_gene_variant,,ENST00000241041,;C11orf94,downstream_gene_variant,,ENST00000449465,;RP11-618K13.2,downstream_gene_variant,,ENST00000533218,;MAPK8IP1,downstream_gene_variant,,ENST00000497090,;	2053	52	48	SUCCESS
OR51G1	79324	.	GRCh37	11	4944735	4944735	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1329562947	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	97	0	ENST00000321961.2:c.835T>C	p.Ser279Pro	p.S279P	ENST00000321961	NM_001005237.1	279	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS31366.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGACATGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Ser279Pro,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	903	97	72	SUCCESS
OR9G1	390174	.	GRCh37	11	56468271	56468271	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	120	0	ENST00000312153.1:c.408C>A	p.Ser136=	p.S136=	ENST00000312153	NM_001005213.1	136	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS31536.1	408	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCATAAA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,synonymous_variant,p.%3D,ENST00000312153,;	408	120	95	SUCCESS
EHD1	10938	.	GRCh37	11	64627602	64627602	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1389025678	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	42	147	0	ENST00000320631.3:c.709A>G	p.Met237Val	p.M237V	ENST00000320631	NM_006795.2	237	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8084.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGAGGG	NONE	.	.	PROSITE_profiles:PS51718,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF60,Superfamily_domains:SSF52540	.	.	ENSP00000320516	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000320631	Transcript	.	.	ENSG00000110047	3242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0)	.	EHD1_HUMAN	EHD1	HGNC	C9JIJ3_HUMAN,C9JDQ8_HUMAN,C9J2Z4_HUMAN,C9IZH1_HUMAN,B2R5U3_HUMAN	.	UPI0000129E22	SNV	EHD1,missense_variant,p.Met237Val,ENST00000359393,;EHD1,missense_variant,p.Met101Val,ENST00000421510,;EHD1,missense_variant,p.Met237Val,ENST00000320631,;EHD1,missense_variant,p.Met251Val,ENST00000433803,;EHD1,missense_variant,p.Met101Val,ENST00000455148,;EHD1,non_coding_transcript_exon_variant,,ENST00000466015,;EHD1,upstream_gene_variant,,ENST00000484846,;EHD1,upstream_gene_variant,,ENST00000498472,;	964	147	126	SUCCESS
CDCA5	113130	.	GRCh37	11	64851412	64851412	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	72	0	ENST00000275517.3:c.39G>T	p.Gln13His	p.Q13H	ENST00000275517	NM_080668.3	13	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS8091.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCTGAGC	NONE	.	.	hmmpanther:PTHR31092,hmmpanther:PTHR31092:SF2	.	.	ENSP00000275517	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000275517	Transcript	.	.	ENSG00000146670	14626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	deleterious(0.02)	.	CDCA5_HUMAN	CDCA5	HGNC	B3KSI5_HUMAN	.	UPI000006E2A4	SNV	CDCA5,missense_variant,p.Gln13His,ENST00000275517,;CDCA5,missense_variant,p.Gln13His,ENST00000404147,;TMEM262,downstream_gene_variant,,ENST00000524603,;CDCA5,upstream_gene_variant,,ENST00000529290,;ZFPL1,upstream_gene_variant,,ENST00000294258,;ZFPL1,upstream_gene_variant,,ENST00000526334,;TMEM262,downstream_gene_variant,,ENST00000530719,;ZFPL1,upstream_gene_variant,,ENST00000530488,;ZFPL1,upstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524632,;ZFPL1,upstream_gene_variant,,ENST00000526791,;ZFPL1,upstream_gene_variant,,ENST00000526945,;CDCA5,upstream_gene_variant,,ENST00000525464,;ZFPL1,upstream_gene_variant,,ENST00000532200,;TMEM262,downstream_gene_variant,,ENST00000525544,;CDCA5,missense_variant,p.Gln13His,ENST00000527430,;CDCA5,non_coding_transcript_exon_variant,,ENST00000479032,;CDCA5,intron_variant,,ENST00000531401,;TMEM262,downstream_gene_variant,,ENST00000528029,;ZFPL1,upstream_gene_variant,,ENST00000526289,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000524733,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,upstream_gene_variant,,ENST00000533216,;ZFPL1,upstream_gene_variant,,ENST00000530744,;ZFPL1,upstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000462902,;ZFPL1,upstream_gene_variant,,ENST00000531761,;ZFPL1,upstream_gene_variant,,ENST00000528123,;ZFPL1,upstream_gene_variant,,ENST00000453524,;	212	73	51	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65351982	65351982	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	74	0	ENST00000309295.4:c.3277A>T	p.Asn1093Tyr	p.N1093Y	ENST00000309295	NM_001099409.1	1093	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS44649.1	3277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCAACATC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000312671	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	SNV	EHBP1L1,missense_variant,p.Asn143Tyr,ENST00000533465,;EHBP1L1,missense_variant,p.Asn1093Tyr,ENST00000309295,;EHBP1L1,missense_variant,p.Asn510Tyr,ENST00000533237,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;	3542	74	71	SUCCESS
PITPNM1	9600	.	GRCh37	11	67265681	67265681	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757060270	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	81	0	ENST00000356404.3:c.1597G>A	p.Ala533Thr	p.A533T	ENST00000356404	NM_001130848.1	533	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31620.1	1597	MUTECT|MUSE	.	GGTGGCCACGG	NONE	byFrequency	.	hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40	.	.	ENSP00000348772	.	11/24	.	.	.	.	.	.	.	.	rs757060270	11/24	PASS	ENST00000356404	Transcript	.	.	ENSG00000110697	9003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.18)	.	PITM1_HUMAN	PITPNM1	HGNC	E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN	.	UPI00001FAD31	SNV	PITPNM1,missense_variant,p.Ala533Thr,ENST00000436757,;PITPNM1,missense_variant,p.Ala533Thr,ENST00000356404,;PITPNM1,missense_variant,p.Ala533Thr,ENST00000534749,;PITPNM1,downstream_gene_variant,,ENST00000532703,;PITPNM1,downstream_gene_variant,,ENST00000524901,;PITPNM1,downstream_gene_variant,,ENST00000528559,;PITPNM1,downstream_gene_variant,,ENST00000533391,;PITPNM1,upstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000525521,;PITPNM1,upstream_gene_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000527527,;PITPNM1,downstream_gene_variant,,ENST00000529203,;PITPNM1,downstream_gene_variant,,ENST00000530381,;PITPNM1,upstream_gene_variant,,ENST00000526602,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;	1823	81	77	SUCCESS
OR6A2	8590	.	GRCh37	11	6816411	6816411	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	9	76	0	ENST00000332601.3:c.529A>T	p.Asn177Tyr	p.N177Y	ENST00000332601	NM_003696.2	177	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS7772.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTGGGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF234,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000330384	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332601	Transcript	.	.	ENSG00000184933	15301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	OR6A2_HUMAN	OR6A2	HGNC	.	.	UPI0000061E92	SNV	OR6A2,missense_variant,p.Asn177Tyr,ENST00000332601,;	718	76	63	SUCCESS
FOLR1	2348	.	GRCh37	11	71906452	71906452	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	66	0	ENST00000312293.4:c.306G>A	p.Gln102=	p.Q102=	ENST00000312293	NM_016725.2	102	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS8211.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGGACAC	NONE	.	.	hmmpanther:PTHR10517:SF15,hmmpanther:PTHR10517,Pfam_domain:PF03024	.	.	ENSP00000377284	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000393679	Transcript	.	.	ENSG00000110195	3791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOLR1_HUMAN	FOLR1	HGNC	Q9NP04_HUMAN,Q96QD1_HUMAN,Q6LDL1_HUMAN	.	UPI0000000C4C	SNV	FOLR1,synonymous_variant,p.%3D,ENST00000393679,;FOLR1,synonymous_variant,p.%3D,ENST00000393676,;FOLR1,synonymous_variant,p.%3D,ENST00000312293,;FOLR1,synonymous_variant,p.%3D,ENST00000393681,;RP11-807H22.7,intron_variant,,ENST00000378140,;	742	66	49	SUCCESS
C2CD3	26005	.	GRCh37	11	73811676	73811676	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	89	0	ENST00000334126.7:c.2626A>G	p.Asn876Asp	p.N876D	ENST00000334126	NM_001286577.1	876	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS31636.1	2626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTTCTTAA	NONE	.	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000323339	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.05)	.	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Asn876Asp,ENST00000313663,;C2CD3,missense_variant,p.Asn876Asp,ENST00000334126,;C2CD3,non_coding_transcript_exon_variant,,ENST00000537285,;	2853	89	75	SUCCESS
TUB	7275	.	GRCh37	11	8060265	8060265	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	20	0	ENST00000305253.4:c.-156G>T		p.*52*	ENST00000305253	NM_003320.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7786.1	.	MUTECT|MUSE	.	ATGGTGGTTGT	NONE	.	.	.	.	.	ENSP00000305426	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000305253	Transcript	.	.	ENSG00000166402	12406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TUB_HUMAN	TUB	HGNC	Q9H4D2_HUMAN	.	UPI000013EA27	SNV	TUB,5_prime_UTR_variant,,ENST00000305253,;TUB,intron_variant,,ENST00000534099,;RP11-236J17.6,non_coding_transcript_exon_variant,,ENST00000528151,;RP11-236J17.6,intron_variant,,ENST00000526646,;	86	20	22	SUCCESS
BTBD11	121551	.	GRCh37	12	107713276	107713276	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	46	0	ENST00000280758.5:c.559T>A	p.Ser187Thr	p.S187T	ENST00000280758	NM_001018072.1	187	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31893.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTCCCTC	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	.	.	ENSP00000280758	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious(0)	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,missense_variant,p.Ser187Thr,ENST00000490090,;BTBD11,missense_variant,p.Ser187Thr,ENST00000280758,;BTBD11,missense_variant,p.Ser187Thr,ENST00000420571,;BTBD11,upstream_gene_variant,,ENST00000415943,;BTBD11,upstream_gene_variant,,ENST00000550706,;	1087	46	56	SUCCESS
ACACB	32	.	GRCh37	12	109690864	109690864	+	synonymous_variant	Silent	SNP	C	C	T	rs759684564	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	98	0	ENST00000338432.7:c.5946C>T	p.Gly1982=	p.G1982=	ENST00000338432		1982	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31898.1	5946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCGTTCA	NONE	byFrequency	.	PROSITE_profiles:PS50980,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Gene3D:3.90.226.10,Pfam_domain:PF01039,Superfamily_domains:SSF52096	.	.	ENSP00000341044	.	43/53	.	.	.	.	.	.	.	.	rs759684564	43/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,synonymous_variant,p.%3D,ENST00000377854,;ACACB,synonymous_variant,p.%3D,ENST00000543201,;ACACB,synonymous_variant,p.%3D,ENST00000377848,;ACACB,synonymous_variant,p.%3D,ENST00000338432,;ACACB,synonymous_variant,p.%3D,ENST00000538526,;ACACB,non_coding_transcript_exon_variant,,ENST00000396233,;ACACB,downstream_gene_variant,,ENST00000536440,;	6065	98	72	SUCCESS
ARL6IP4	51329	.	GRCh37	12	123465272	123465272	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	11	0	ENST00000315580.5:c.338C>G	p.Ser113Cys	p.S113C	ENST00000315580	NM_001002251.2	113	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	.	338	MUTECT|MUSE	.	GCTGTCCGGCC	NONE	.	.	hmmpanther:PTHR13595	.	.	ENSP00000313422	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000315580	Transcript	.	.	ENSG00000182196	18076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.16)	.	AR6P4_HUMAN	ARL6IP4	HGNC	.	.	UPI00003E1F8C	SNV	ARL6IP4,missense_variant,p.Ser113Cys,ENST00000543566,;ARL6IP4,missense_variant,p.Ser113Cys,ENST00000392435,;ARL6IP4,missense_variant,p.Ser113Cys,ENST00000315580,;ARL6IP4,missense_variant,p.Ser113Cys,ENST00000453766,;ARL6IP4,missense_variant,p.Ser113Cys,ENST00000542099,;ARL6IP4,5_prime_UTR_variant,,ENST00000454885,;ARL6IP4,5_prime_UTR_variant,,ENST00000412505,;ABCB9,5_prime_UTR_variant,,ENST00000542678,;ARL6IP4,intron_variant,,ENST00000413381,;ARL6IP4,intron_variant,,ENST00000426960,;OGFOD2,downstream_gene_variant,,ENST00000537966,;PITPNM2,downstream_gene_variant,,ENST00000280562,;OGFOD2,downstream_gene_variant,,ENST00000397389,;PITPNM2,downstream_gene_variant,,ENST00000392428,;OGFOD2,downstream_gene_variant,,ENST00000545056,;OGFOD2,downstream_gene_variant,,ENST00000536439,;OGFOD2,downstream_gene_variant,,ENST00000538628,;ARL6IP4,upstream_gene_variant,,ENST00000439686,;OGFOD2,downstream_gene_variant,,ENST00000545317,;PITPNM2,downstream_gene_variant,,ENST00000320201,;PITPNM2,downstream_gene_variant,,ENST00000542749,;OGFOD2,downstream_gene_variant,,ENST00000545612,;ARL6IP4,upstream_gene_variant,,ENST00000357866,;OGFOD2,downstream_gene_variant,,ENST00000228922,;OGFOD2,downstream_gene_variant,,ENST00000536150,;ARL6IP4,upstream_gene_variant,,ENST00000456762,;OGFOD2,downstream_gene_variant,,ENST00000454694,;OGFOD2,downstream_gene_variant,,ENST00000538755,;OGFOD2,downstream_gene_variant,,ENST00000542940,;OGFOD2,downstream_gene_variant,,ENST00000541360,;OGFOD2,downstream_gene_variant,,ENST00000545033,;OGFOD2,downstream_gene_variant,,ENST00000544852,;OGFOD2,downstream_gene_variant,,ENST00000536615,;OGFOD2,downstream_gene_variant,,ENST00000542117,;OGFOD2,downstream_gene_variant,,ENST00000544358,;OGFOD2,downstream_gene_variant,,ENST00000535970,;ARL6IP4,missense_variant,p.Ser113Cys,ENST00000539770,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000442210,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000540708,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000536502,;RP11-197N18.2,non_coding_transcript_exon_variant,,ENST00000540866,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000539576,;OGFOD2,downstream_gene_variant,,ENST00000542037,;OGFOD2,downstream_gene_variant,,ENST00000540324,;OGFOD2,downstream_gene_variant,,ENST00000545976,;ARL6IP4,upstream_gene_variant,,ENST00000536073,;ARL6IP4,upstream_gene_variant,,ENST00000540382,;OGFOD2,downstream_gene_variant,,ENST00000545396,;OGFOD2,downstream_gene_variant,,ENST00000420319,;ARL6IP4,upstream_gene_variant,,ENST00000392433,;OGFOD2,downstream_gene_variant,,ENST00000406539,;	666	11	14	SUCCESS
FAM101A	0	.	GRCh37	12	124796385	124796385	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	37	135	0	ENST00000546355.1:c.-15C>T		p.*5*	ENST00000546355	NM_001204299.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9258.1	.	RADIA|MUTECT|MUSE	.	CAAATCCCCCG	NONE	.	.	.	.	.	ENSP00000315626	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000324038	Transcript	.	.	ENSG00000178882	27051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F101A_HUMAN	FAM101A	HGNC	.	.	UPI00001FB96E	SNV	FAM101A,missense_variant,p.Pro77Ser,ENST00000389727,;FAM101A,5_prime_UTR_variant,,ENST00000324038,;FAM101A,5_prime_UTR_variant,,ENST00000540762,;FAM101A,5_prime_UTR_variant,,ENST00000338359,;FAM101A,5_prime_UTR_variant,,ENST00000546355,;	229	135	134	SUCCESS
FAM101A	0	.	GRCh37	12	124796387	124796387	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	37	136	0	ENST00000546355.1:c.-13C>T		p.*5*	ENST00000546355	NM_001204299.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9258.1	.	RADIA|MUTECT|MUSE	.	AATCCCCCGGC	NONE	.	.	.	.	.	ENSP00000315626	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000324038	Transcript	.	.	ENSG00000178882	27051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F101A_HUMAN	FAM101A	HGNC	.	.	UPI00001FB96E	SNV	FAM101A,synonymous_variant,p.%3D,ENST00000389727,;FAM101A,5_prime_UTR_variant,,ENST00000324038,;FAM101A,5_prime_UTR_variant,,ENST00000540762,;FAM101A,5_prime_UTR_variant,,ENST00000338359,;FAM101A,5_prime_UTR_variant,,ENST00000546355,;	231	136	137	SUCCESS
EP400	57634	.	GRCh37	12	132445808	132445808	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1323197385	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	69	0	ENST00000389561.2:c.644C>A	p.Pro215His	p.P215H	ENST00000389561	NM_015409.4	215	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS31929.2	644	RADIA|VARSCANS	.	TACGCCCATCA	NONE	.	.	hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	.	ENSP00000374212	.	2/53	.	.	.	.	.	.	.	.	.	2/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,missense_variant,p.Pro215His,ENST00000389562,;EP400,missense_variant,p.Pro215His,ENST00000332482,;EP400,missense_variant,p.Pro215His,ENST00000389561,;EP400,missense_variant,p.Pro215His,ENST00000333577,;EP400,missense_variant,p.Pro215His,ENST00000330386,;	753	69	86	SUCCESS
CASC1	0	.	GRCh37	12	25272106	25272106	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	79	0	ENST00000395987.3:c.1369C>G	p.Pro457Ala	p.P457A	ENST00000395987	NM_018272.3	457	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS31759.2	1369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGATCCT	NONE	.	.	Prints_domain:PR02043,hmmpanther:PTHR20929,Pfam_domain:PF12366	.	.	ENSP00000379310	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000395987	Transcript	.	.	ENSG00000118307	29599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	CASC1	HGNC	G3V3G6_HUMAN,F8W8F9_HUMAN	.	UPI00001FB7A4	SNV	CASC1,missense_variant,p.Pro457Ala,ENST00000395987,;CASC1,missense_variant,p.Pro515Ala,ENST00000354189,;CASC1,missense_variant,p.Pro339Ala,ENST00000537577,;CASC1,missense_variant,p.Pro411Ala,ENST00000395990,;CASC1,missense_variant,p.Pro451Ala,ENST00000320267,;CASC1,missense_variant,p.Pro283Ala,ENST00000556006,;CASC1,missense_variant,p.Pro392Ala,ENST00000545133,;CASC1,non_coding_transcript_exon_variant,,ENST00000557684,;CASC1,intron_variant,,ENST00000555554,;CASC1,3_prime_UTR_variant,,ENST00000554533,;	1435	79	76	SUCCESS
ALG10B	144245	.	GRCh37	12	38710649	38710649	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	59	0	ENST00000308742.4:c.-47A>T		p.*16*	ENST00000308742	NM_001013620.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31772.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCAGAATT	NONE	.	.	.	.	.	ENSP00000310120	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308742	Transcript	.	.	ENSG00000175548	31088	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AG10B_HUMAN	ALG10B	HGNC	.	.	UPI000013EDA4	SNV	ALG10B,5_prime_UTR_variant,,ENST00000308742,;ALG10B,5_prime_UTR_variant,,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,5_prime_UTR_variant,,ENST00000548240,;ALG10B,non_coding_transcript_exon_variant,,ENST00000553138,;	270	59	43	SUCCESS
CCNT1	904	.	GRCh37	12	49099564	49099564	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	42	0	ENST00000261900.3:c.359A>G	p.Asp120Gly	p.D120G	ENST00000261900	NM_001240.3	120	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS8766.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTATCAGGA	NONE	.	.	hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF42,Pfam_domain:PF00134,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000261900	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000261900	Transcript	.	.	ENSG00000129315	1599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.435)	.	deleterious(0)	.	CCNT1_HUMAN	CCNT1	HGNC	.	.	UPI0000044259	SNV	CCNT1,missense_variant,p.Asp120Gly,ENST00000261900,;CCNT1,missense_variant,p.Asp120Gly,ENST00000417344,;CCNT1,non_coding_transcript_exon_variant,,ENST00000550457,;	582	42	51	SUCCESS
KRT121P	0	.	GRCh37	12	52647088	52647088	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	72	0	ENST00000257935.6:n.1255G>T		p.*419*	ENST00000257935				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8822.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCCGTGC	NONE	.	4383	.	.	.	ENSP00000329243	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331817	Transcript	.	.	ENSG00000135480	6445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C7_HUMAN	KRT7	HGNC	.	.	UPI000013CF9E	SNV	KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;KRT7,downstream_gene_variant,,ENST00000331817,;KRT121P,non_coding_transcript_exon_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000550153,;KRT7,downstream_gene_variant,,ENST00000552322,;KRT7,downstream_gene_variant,,ENST00000548657,;KRT7,downstream_gene_variant,,ENST00000549127,;KRT7,downstream_gene_variant,,ENST00000549638,;KRT121P,non_coding_transcript_exon_variant,,ENST00000534226,;KRT121P,non_coding_transcript_exon_variant,,ENST00000257935,;	.	72	76	SUCCESS
TMEM194A	0	.	GRCh37	12	57472462	57472462	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368361522	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	50	0	ENST00000300128.4:c.67G>A	p.Gly23Arg	p.G23R	ENST00000300128	NM_001130963.1	23	Ggg/Agg	0	G:0	.	.	.	.	T	G/R	protein_coding	YES	CCDS44927.1	67	RADIA|SOMATICSNIPER|VARSCANS	.	GCCCCCGACTC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13598,hmmpanther:PTHR13598:SF2	.	G:0.0001	ENSP00000300128	.	1/9	.	.	.	.	.	.	.	.	rs368361522	1/9	PASS	ENST00000300128	Transcript	.	.	ENSG00000166881	29001	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.47)	.	T194A_HUMAN	TMEM194A	HGNC	.	.	UPI0000185F02	SNV	TMEM194A,missense_variant,p.Gly23Arg,ENST00000300128,;TMEM194A,missense_variant,p.Gly23Arg,ENST00000379391,;TMEM194A,intron_variant,,ENST00000553654,;TMEM194A,missense_variant,p.Gly23Arg,ENST00000554340,;	91	50	50	SUCCESS
LUM	4060	.	GRCh37	12	91501990	91501990	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	62	0	ENST00000266718.4:c.767T>C	p.Leu256Pro	p.L256P	ENST00000266718	NM_002345.3	256	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9038.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCAGGGAT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF54,hmmpanther:PTHR24371,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,SMART_domains:SM00365,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000266718	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,missense_variant,p.Leu256Pro,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;	1222	62	58	SUCCESS
NBEA	26960	.	GRCh37	13	35516948	35516948	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	17	0	ENST00000400445.3:c.-10A>T		p.*4*	ENST00000400445	NM_015678.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45026.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TCAGGAGGGGG	NONE	.	.	.	.	.	ENSP00000383295	.	1/58	.	.	.	.	.	.	.	.	.	1/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,5_prime_UTR_variant,,ENST00000400445,;NBEA,5_prime_UTR_variant,,ENST00000540320,;NBEA,5_prime_UTR_variant,,ENST00000310336,;NBEA,5_prime_UTR_variant,,ENST00000379939,;	525	17	13	SUCCESS
NBEA	26960	.	GRCh37	13	35632909	35632909	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	12	220	0	ENST00000400445.3:c.1148T>G	p.Phe383Cys	p.F383C	ENST00000400445	NM_015678.4	383	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS45026.1	1148	MUTECT|MUSE	.	GGTATTCTGTG	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.60.120.200,Pfam_domain:PF13385,Superfamily_domains:SSF49899	.	.	ENSP00000383295	.	8/58	.	.	.	.	.	.	.	.	.	8/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Phe383Cys,ENST00000400445,;NBEA,missense_variant,p.Phe383Cys,ENST00000540320,;NBEA,missense_variant,p.Phe383Cys,ENST00000310336,;NBEA,missense_variant,p.Phe383Cys,ENST00000379939,;	1682	220	195	SUCCESS
NBEA	26960	.	GRCh37	13	35770382	35770382	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	67	0	ENST00000400445.3:c.5309C>A	p.Pro1770Gln	p.P1770Q	ENST00000400445	NM_015678.4	1770	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS45026.1	5309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCAGCAT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	31/58	.	.	.	.	.	.	.	.	COSM3468543	31/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.01)	.	tolerated_low_confidence(0.59)	1	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Pro1770Gln,ENST00000400445,;NBEA,missense_variant,p.Pro1770Gln,ENST00000540320,;NBEA,missense_variant,p.Pro1770Gln,ENST00000310336,;NBEA,missense_variant,p.Pro1767Gln,ENST00000379939,;	5843	67	67	SUCCESS
KIAA0226L	0	.	GRCh37	13	46946671	46946671	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	30	0	ENST00000389908.3:c.-61C>T		p.*21*	ENST00000389908				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31970.2	.	MUTECT|MUSE	.	TTGCTGGTACT	NONE	.	.	.	.	.	ENSP00000396935	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000429979	Transcript	.	.	ENSG00000102445	20420	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K226L_HUMAN	KIAA0226L	HGNC	Q5W050_HUMAN,A8XR14_HUMAN,A8KAG9_HUMAN	.	UPI00001FCD59	SNV	KIAA0226L,5_prime_UTR_variant,,ENST00000389908,;KIAA0226L,5_prime_UTR_variant,,ENST00000378781,;KIAA0226L,5_prime_UTR_variant,,ENST00000439642,;KIAA0226L,5_prime_UTR_variant,,ENST00000429979,;KIAA0226L,5_prime_UTR_variant,,ENST00000378787,;KIAA0226L,5_prime_UTR_variant,,ENST00000378797,;KIAA0226L,intron_variant,,ENST00000322896,;KIAA0226L,intron_variant,,ENST00000378784,;KIAA0226L,intron_variant,,ENST00000534925,;KIAA0226L,intron_variant,,ENST00000417405,;KIAA0226L,intron_variant,,ENST00000409879,;RNU2-6P,downstream_gene_variant,,ENST00000411404,;KIAA0226L,intron_variant,,ENST00000480935,;KIAA0226L,5_prime_UTR_variant,,ENST00000441284,;PPP1R2P4,intron_variant,,ENST00000535073,;	545	30	22	SUCCESS
MYH6	4624	.	GRCh37	14	23872640	23872640	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746593504	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	56	0	ENST00000356287.3:c.815C>T	p.Ser272Phe	p.S272F	ENST00000356287		272	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS9600.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGACTTC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	10/39	.	.	.	.	.	.	.	.	rs746593504	10/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Ser272Phe,ENST00000405093,;MYH6,missense_variant,p.Ser272Phe,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;	886	56	35	SUCCESS
MIA2	4253	.	GRCh37	14	39716660	39716660	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	66	0	ENST00000280082.3:c.882A>G	p.Leu294=	p.L294=	ENST00000280082	NM_054024.3	294	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS9672.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTAGCATC	NONE	.	.	hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF42	.	.	ENSP00000280082	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000280082	Transcript	.	.	ENSG00000150526	18432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIA2_HUMAN	MIA2	HGNC	G3V4M1_HUMAN,B2RA73_HUMAN	.	UPI0000351D6B	SNV	RP11-407N17.3,synonymous_variant,p.%3D,ENST00000553728,;MIA2,synonymous_variant,p.%3D,ENST00000556784,;MIA2,synonymous_variant,p.%3D,ENST00000280082,;	1081	66	53	SUCCESS
FSCB	84075	.	GRCh37	14	44974753	44974753	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	58	0	ENST00000340446.4:c.1438A>T	p.Thr480Ser	p.T480S	ENST00000340446	NM_032135.3	480	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9679.1	1438	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CTCCGTAGCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.182)	.	tolerated(0.14)	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,missense_variant,p.Thr480Ser,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	1730	58	32	SUCCESS
ZNF592	9640	.	GRCh37	15	85341894	85341894	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	56	0	ENST00000299927.3:c.2812C>T	p.Pro938Ser	p.P938S	ENST00000299927		938	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32317.1	2812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCCTGGC	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199	.	.	ENSP00000299927	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000299927	Transcript	1	.	ENSG00000166716	28986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.18)	.	ZN592_HUMAN	ZNF592	HGNC	.	.	UPI000013E5FC	SNV	ZNF592,missense_variant,p.Pro938Ser,ENST00000299927,;ZNF592,missense_variant,p.Pro938Ser,ENST00000560079,;ZNF592,3_prime_UTR_variant,,ENST00000559607,;	2834	56	30	SUCCESS
RCCD1	91433	.	GRCh37	15	91500107	91500107	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	39	0	ENST00000394258.2:c.143G>A	p.Trp48Ter	p.W48*	ENST00000394258	NM_033544.2	48	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS32333.1	143	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGCTGGAGCT	NONE	.	.	Superfamily_domains:SSF50985,Gene3D:2.130.10.30,hmmpanther:PTHR22870:SF153,hmmpanther:PTHR22870	.	.	ENSP00000377801	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000394258	Transcript	.	.	ENSG00000166965	30457	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RCCD1_HUMAN	RCCD1	HGNC	.	.	UPI00001FEBD4	SNV	RCCD1,stop_gained,p.Trp48Ter,ENST00000555155,;RCCD1,stop_gained,p.Trp48Ter,ENST00000394258,;RCCD1,stop_gained,p.Trp48Ter,ENST00000556618,;UNC45A,downstream_gene_variant,,ENST00000418476,;UNC45A,downstream_gene_variant,,ENST00000394275,;AC068831.6,upstream_gene_variant,,ENST00000553321,;RCCD1,intron_variant,,ENST00000556774,;RCCD1,stop_gained,p.Trp47Ter,ENST00000556333,;RCCD1,non_coding_transcript_exon_variant,,ENST00000557266,;RCCD1,non_coding_transcript_exon_variant,,ENST00000555737,;RCCD1,non_coding_transcript_exon_variant,,ENST00000554302,;RCCD1,upstream_gene_variant,,ENST00000557750,;UNC45A,downstream_gene_variant,,ENST00000471780,;UNC45A,downstream_gene_variant,,ENST00000487875,;	345	39	25	SUCCESS
ITGAM	3684	.	GRCh37	16	31273041	31273041	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	56	1	ENST00000287497.8:c.57G>A	p.Leu19=	p.L19=	ENST00000287497		19	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS54004.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGGACAC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000441691	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,synonymous_variant,p.%3D,ENST00000287497,;ITGAM,synonymous_variant,p.%3D,ENST00000544665,;	128	57	61	SUCCESS
MYLK3	91807	.	GRCh37	16	46761274	46761274	+	synonymous_variant	Silent	SNP	C	C	T	rs1278355686	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	57	0	ENST00000394809.4:c.1788G>A	p.Glu596=	p.E596=	ENST00000394809	NM_182493.2	596	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS10723.2	1788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCTCACC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000378288	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000394809	Transcript	.	.	ENSG00000140795	29826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYLK3_HUMAN	MYLK3	HGNC	.	.	UPI000059D380	SNV	MYLK3,synonymous_variant,p.%3D,ENST00000536476,;MYLK3,synonymous_variant,p.%3D,ENST00000394809,;MYLK3,non_coding_transcript_exon_variant,,ENST00000569844,;MYLK3,non_coding_transcript_exon_variant,,ENST00000564731,;	1904	57	42	SUCCESS
CDH11	1009	.	GRCh37	16	65032623	65032623	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	36	98	0	ENST00000268603.4:c.365C>A	p.Ala122Asp	p.A122D	ENST00000268603	NM_001797.2	122	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS10803.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGCTCTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268603	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Ala122Asp,ENST00000567934,;CDH11,missense_variant,p.Ala122Asp,ENST00000394156,;CDH11,missense_variant,p.Ala122Asp,ENST00000268603,;CDH11,5_prime_UTR_variant,,ENST00000566827,;CDH11,upstream_gene_variant,,ENST00000569128,;	981	98	73	SUCCESS
CDH3	1001	.	GRCh37	16	68679130	68679130	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	7	18	0	ENST00000264012.4:c.-153G>C		p.*51*	ENST00000264012	NM_001793.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10868.1	.	MUTECT|MUSE	.	GGGGCGGGACC	NONE	.	.	.	.	.	ENSP00000264012	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000264012	Transcript	.	.	ENSG00000062038	1762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADH3_HUMAN	CDH3	HGNC	J3KTE9_HUMAN	.	UPI0000161BFF	SNV	CDH3,5_prime_UTR_variant,,ENST00000429102,;CDH3,5_prime_UTR_variant,,ENST00000264012,;CDH3,upstream_gene_variant,,ENST00000581171,;RP11-615I2.2,downstream_gene_variant,,ENST00000562172,;CDH3,non_coding_transcript_exon_variant,,ENST00000565453,;CDH3,upstream_gene_variant,,ENST00000542274,;CDH3,upstream_gene_variant,,ENST00000566808,;	392	18	9	SUCCESS
ACLY	47	.	GRCh37	17	40049360	40049360	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	59	0	ENST00000352035.2:c.1527G>T	p.Val509=	p.V509=	ENST00000352035	NM_001096.2	509	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11412.1	1527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCACGGC	NONE	.	.	Superfamily_domains:SSF51735,SMART_domains:SM00881,PIRSF_domain:PIRSF036511,Gene3D:3.40.50.720,Pfam_domain:PF02629,hmmpanther:PTHR23118	.	.	ENSP00000253792	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000352035	Transcript	.	.	ENSG00000131473	115	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACLY_HUMAN	ACLY	HGNC	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN	.	UPI000013CDF3	SNV	ACLY,synonymous_variant,p.%3D,ENST00000353196,;ACLY,synonymous_variant,p.%3D,ENST00000590151,;ACLY,synonymous_variant,p.%3D,ENST00000352035,;ACLY,synonymous_variant,p.%3D,ENST00000537919,;ACLY,synonymous_variant,p.%3D,ENST00000393896,;ACLY,downstream_gene_variant,,ENST00000590770,;	1658	59	53	SUCCESS
GJC1	10052	.	GRCh37	17	42883161	42883161	+	synonymous_variant	Silent	SNP	G	G	A	rs1567707619	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	97	1	ENST00000330514.4:c.25C>T	p.Leu9=	p.L9=	ENST00000330514		9	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11487.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCAGGCGAG	NONE	.	.	hmmpanther:PTHR11984:SF6,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00	.	.	ENSP00000411528	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426548	Transcript	.	.	ENSG00000182963	4280	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXG1_HUMAN	GJC1	HGNC	Q5H9P2_HUMAN,K7EQ14_HUMAN,K7ENT9_HUMAN,K7EM78_HUMAN	.	UPI000013C62A	SNV	GJC1,synonymous_variant,p.%3D,ENST00000590758,;GJC1,synonymous_variant,p.%3D,ENST00000587239,;GJC1,synonymous_variant,p.%3D,ENST00000592524,;GJC1,synonymous_variant,p.%3D,ENST00000586267,;GJC1,synonymous_variant,p.%3D,ENST00000591424,;GJC1,synonymous_variant,p.%3D,ENST00000426548,;GJC1,synonymous_variant,p.%3D,ENST00000330514,;GJC1,upstream_gene_variant,,ENST00000586347,;GJC1,upstream_gene_variant,,ENST00000587113,;	295	99	93	SUCCESS
CACNA1G	8913	.	GRCh37	17	48683348	48683348	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	79	0	ENST00000359106.5:c.4386G>A	p.Trp1462Ter	p.W1462*	ENST00000359106	NM_018896.4	1462	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS45730.1	4386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGGTCCG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520	.	.	ENSP00000352011	.	23/38	.	.	.	.	.	.	.	.	.	23/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,stop_gained,p.Trp1462Ter,ENST00000416767,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000358244,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000515165,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000360761,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000354983,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000513689,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000507510,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000514717,;CACNA1G,stop_gained,p.Trp277Ter,ENST00000506520,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000442258,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000513964,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000359106,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000515765,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000502264,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000514181,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000352832,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000507336,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000510366,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000505165,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000510115,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000429973,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000512389,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000514079,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000507896,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000515411,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000507609,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000503485,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000504076,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000511765,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000511768,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000503436,;CACNA1G,stop_gained,p.Trp1439Ter,ENST00000503607,;CACNA1G,stop_gained,p.Trp1462Ter,ENST00000506406,;	4386	79	76	SUCCESS
SRSF1	6426	.	GRCh37	17	56082796	56082796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	49	0	ENST00000258962.4:c.718C>A	p.Arg240Ser	p.R240S	ENST00000258962	NM_006924.4	240	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11600.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGGGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF87	.	.	ENSP00000258962	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000258962	Transcript	.	.	ENSG00000136450	10780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.58)	.	SRSF1_HUMAN	SRSF1	HGNC	J3QQV5_HUMAN	.	UPI0000001220	SNV	SRSF1,missense_variant,p.Arg240Ser,ENST00000258962,;SRSF1,missense_variant,p.Arg240Ser,ENST00000584773,;SRSF1,3_prime_UTR_variant,,ENST00000582730,;SRSF1,intron_variant,,ENST00000585096,;RP11-159D12.5,upstream_gene_variant,,ENST00000578794,;SRSF1,upstream_gene_variant,,ENST00000581497,;SRSF1,missense_variant,p.Arg135Ser,ENST00000584668,;SRSF1,3_prime_UTR_variant,,ENST00000581979,;SRSF1,3_prime_UTR_variant,,ENST00000583741,;SRSF1,downstream_gene_variant,,ENST00000578430,;	927	49	67	SUCCESS
MAP3K3	4215	.	GRCh37	17	61771085	61771085	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	40	0	ENST00000361733.3:c.1829G>A	p.Arg610Lys	p.R610K	ENST00000361733	NM_002401.3	610	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS32701.1	1922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGACCTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF38,hmmpanther:PTHR24360,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000354927	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000361357	Transcript	.	.	ENSG00000198909	6855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	M3K3_HUMAN	MAP3K3	HGNC	Q7Z4E6_HUMAN	.	UPI0000074003	SNV	MAP3K3,missense_variant,p.Arg641Lys,ENST00000579585,;MAP3K3,missense_variant,p.Arg637Lys,ENST00000584573,;MAP3K3,missense_variant,p.Arg641Lys,ENST00000361357,;MAP3K3,missense_variant,p.Arg606Lys,ENST00000577395,;MAP3K3,missense_variant,p.Arg610Lys,ENST00000361733,;LIMD2,downstream_gene_variant,,ENST00000578402,;LIMD2,downstream_gene_variant,,ENST00000584645,;LIMD2,downstream_gene_variant,,ENST00000578061,;LIMD2,downstream_gene_variant,,ENST00000578993,;LIMD2,downstream_gene_variant,,ENST00000583211,;LIMD2,downstream_gene_variant,,ENST00000259006,;LIMD2,downstream_gene_variant,,ENST00000582055,;MAP3K3,downstream_gene_variant,,ENST00000577784,;MAP3K3,3_prime_UTR_variant,,ENST00000577597,;LIMD2,downstream_gene_variant,,ENST00000578297,;LIMD2,downstream_gene_variant,,ENST00000579814,;MAP3K3,downstream_gene_variant,,ENST00000581732,;MAP3K3,downstream_gene_variant,,ENST00000577839,;MAP3K3,downstream_gene_variant,,ENST00000585302,;MAP3K3,downstream_gene_variant,,ENST00000578622,;LIMD2,downstream_gene_variant,,ENST00000580222,;LIMD2,downstream_gene_variant,,ENST00000578067,;LIMD2,downstream_gene_variant,,ENST00000579329,;	2240	40	35	SUCCESS
SCN4A	6329	.	GRCh37	17	62045561	62045561	+	synonymous_variant	Silent	SNP	C	C	T	rs560230431	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	128	0	ENST00000435607.1:c.858G>A	p.Pro286=	p.P286=	ENST00000435607	NM_000334.4	286	ccG/ccA	0	.	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS45761.1	858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAACGGCGG	NONE	by1000G	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520	T:0	.	ENSP00000396320	T:0.001	6/24	.	.	.	.	.	.	.	.	rs560230431	6/24	PASS	ENST00000435607	Transcript	.	T:0.0002	ENSG00000007314	10591	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SCN4A_HUMAN	SCN4A	HGNC	Q9H3L9_HUMAN	.	UPI0000201254	SNV	SCN4A,synonymous_variant,p.%3D,ENST00000435607,;SCN4A,synonymous_variant,p.%3D,ENST00000578147,;CTC-264K15.6,downstream_gene_variant,,ENST00000577329,;	935	128	92	SUCCESS
MAP2K6	5608	.	GRCh37	17	67521046	67521046	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	48	0	ENST00000590474.1:c.668A>G	p.Glu223Gly	p.E223G	ENST00000590474	NM_002758.3	223	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS11686.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGAAAGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF40,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000468348	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000590474	Transcript	.	.	ENSG00000108984	6846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	MP2K6_HUMAN	MAP2K6	HGNC	K7ELM6_HUMAN,A8K3Y2_HUMAN	.	UPI000012F492	SNV	MAP2K6,missense_variant,p.Glu167Gly,ENST00000589647,;MAP2K6,missense_variant,p.Glu223Gly,ENST00000590474,;MAP2K6,downstream_gene_variant,,ENST00000588110,;MAP2K6,downstream_gene_variant,,ENST00000589295,;MAP2K6,3_prime_UTR_variant,,ENST00000359094,;MAP2K6,downstream_gene_variant,,ENST00000591445,;MAP2K6,downstream_gene_variant,,ENST00000586641,;	955	48	46	SUCCESS
TP53	7157	.	GRCh37	17	7577121	7577121	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs121913343	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	73	0	ENST00000269305.4:c.817C>A	p.Arg273Ser	p.R273S	ENST00000269305	NM_001126112.2	273	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11118.1	817	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	AACACGCACCT	SITE|p.R273S|c.817C>A|4,SITE|p.R273S|c.817C>A|15,CODON|p.0?|c.1_1182del1182|6,CODON|p.R273L|c.818G>T|98,CODON|p.R273P|c.818G>C|4,CODON|p.R273H|c.818G>A|116,CODON|p.R273H|c.818G>A|64,CODON|p.R273H|c.818G>A|588,CODON|p.R273L|c.818G>T|5,CODON|p.R273H|c.818G>A|83,CODON|p.R273P|c.818G>C|29,CODON|p.R273L|c.818G>T|18,CODON|p.R273L|c.818G>T|12,BUFFER|p.A276D|c.827C>A|9,BUFFER|p.A276G|c.827C>G|4,BUFFER|p.A276D|c.827C>A|3,BUFFER|p.A276V|c.827C>T|7,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275C|c.825T>C|4,BUFFER|p.C275W|c.825T>G|8,BUFFER|p.C275*|c.825T>A|3,BUFFER|p.C275F|c.824G>T|10,BUFFER|p.C275S|c.824G>C|4,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275F|c.824G>T|43,BUFFER|p.C275F|c.824G>T|5,BUFFER|p.C275Y|c.824G>A|54,BUFFER|p.C275Y|c.824G>A|5,BUFFER|p.C275Y|c.824G>A|11,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273C|c.817C>T|59,BUFFER|p.V272E|c.815T>A|9,BUFFER|p.V272G|c.815T>G|7,BUFFER|p.V272A|c.815T>C|7,BUFFER|p.V272fs*73|c.814delG|3,BUFFER|p.V272L|c.814G>T|24,BUFFER|p.V272L|c.814G>T|4,BUFFER|p.V272M|c.814G>A|11,BUFFER|p.V272M|c.814G>A|84,BUFFER|p.V272M|c.814G>A|6,BUFFER|p.V272M|c.814G>A|22,BUFFER|p.V272L|c.814G>C|4,BUFFER|p.E271V|c.812A>T|8,BUFFER|p.E271G|c.812A>G|3,BUFFER|p.E271Q|c.811G>C|4,BUFFER|p.E271K|c.811G>A|35,BUFFER|p.E271*|c.811G>T|16,BUFFER|p.E271*|c.811G>T|3,BUFFER|p.E271K|c.811G>A|13,BUFFER|p.E271K|c.811G>A|4,BUFFER|p.E271K|c.811G>A|8,BUFFER|p.F270L|c.810T>G|4,BUFFER|p.F270L|c.810T>A|5,BUFFER|p.F270S|c.809T>C|3,BUFFER|p.F270Y|c.809T>A|5,BUFFER|p.F270C|c.809T>G|16,BUFFER|p.F270S|c.809T>C|3,BUFFER|p.F270S|c.809T>C|14,BUFFER|p.F270S|c.809T>C|6,BUFFER|p.F270L|c.808T>C|16,BUFFER|p.F270I|c.808T>A|3,BUFFER|p.F270V|c.808T>G|8,BUFFER|p.F270L|c.808T>C|3,BUFFER|p.F270I|c.808T>A|6,BUFFER|p.S269S|c.807C>T|3,BUFFER|p.S269N|c.806G>A|4	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM951233,CM010473,rs121913343,CM010471,TP53_g.13797C>G,TP53_g.13797del,TP53_g.13797C>T,TP53_g.13797C>A,COSM43909,COSM44701,COSM10659,COSM43843,COSM417971,COSM99933,COSM3719990,COSM3355991,COSM3958802,COSM3719992,COSM1645518,COSM3719991,COSM3958801	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg273Ser,ENST00000420246,;TP53,missense_variant,p.Arg273Ser,ENST00000269305,;TP53,missense_variant,p.Arg141Ser,ENST00000509690,;TP53,missense_variant,p.Arg273Ser,ENST00000359597,;TP53,missense_variant,p.Arg273Ser,ENST00000445888,;TP53,missense_variant,p.Arg273Ser,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1007	73	47	SUCCESS
CCDC137	339230	.	GRCh37	17	79637369	79637369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200920452	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	5	152	0	ENST00000329214.8:c.383G>A	p.Arg128His	p.R128H	ENST00000329214	NM_199287.2	128	cGc/cAc	0	T:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS42400.1	383	MUTECT|MUSE	.	CCACCGCATGC	NONE	byCluster	.	hmmpanther:PTHR21838	.	T:0.0001	ENSP00000329360	.	3/6	.	.	.	.	.	.	.	.	rs200920452,COSM271151	3/6	PASS	ENST00000329214	Transcript	.	.	ENSG00000185298	33451	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.471)	.	deleterious(0.01)	0,1	CC137_HUMAN	CCDC137	HGNC	H6QX63_HUMAN	.	UPI00001983C7	SNV	CCDC137,missense_variant,p.Arg137His,ENST00000574107,;CCDC137,missense_variant,p.Arg128His,ENST00000329214,;OXLD1,upstream_gene_variant,,ENST00000374741,;OXLD1,upstream_gene_variant,,ENST00000571503,;OXLD1,upstream_gene_variant,,ENST00000573786,;CCDC137,missense_variant,p.Arg128His,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;CCDC137,upstream_gene_variant,,ENST00000572531,;OXLD1,upstream_gene_variant,,ENST00000571092,;OXLD1,upstream_gene_variant,,ENST00000571757,;OXLD1,upstream_gene_variant,,ENST00000575992,;OXLD1,upstream_gene_variant,,ENST00000575963,;CCDC137,downstream_gene_variant,,ENST00000574200,;	786	152	128	SUCCESS
COLEC12	81035	.	GRCh37	18	346626	346626	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	58	0	ENST00000400256.3:c.996G>A	p.Leu332=	p.L332=	ENST00000400256	NM_130386.2	332	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32782.1	996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCAGTTG	NONE	.	.	hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19	.	.	ENSP00000383115	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000400256	Transcript	.	.	ENSG00000158270	16016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COL12_HUMAN	COLEC12	HGNC	.	.	UPI00002018EC	SNV	COLEC12,synonymous_variant,p.%3D,ENST00000400256,;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	1204	58	59	SUCCESS
LOXHD1	125336	.	GRCh37	18	44126901	44126901	+	synonymous_variant	Silent	SNP	G	G	A	rs727503141	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	44	0	ENST00000300591.6:c.138C>T	p.Gly46=	p.G46=	ENST00000300591	NM_001145472.2	46	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45861.1	138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_benign	TCACCGCCTCC	NONE	byCluster	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110	.	.	ENSP00000300591	.	4/24	.	.	.	.	.	.	.	.	rs727503141	4/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,synonymous_variant,p.%3D,ENST00000582408,;LOXHD1,synonymous_variant,p.%3D,ENST00000300591,;LOXHD1,synonymous_variant,p.%3D,ENST00000441551,;LOXHD1,synonymous_variant,p.%3D,ENST00000441893,;LOXHD1,synonymous_variant,p.%3D,ENST00000536736,;LOXHD1,synonymous_variant,p.%3D,ENST00000398722,;LOXHD1,5_prime_UTR_variant,,ENST00000579038,;LOXHD1,downstream_gene_variant,,ENST00000419859,;LOXHD1,synonymous_variant,p.%3D,ENST00000536111,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	552	44	38	SUCCESS
SOGA2	0	.	GRCh37	18	8718623	8718623	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	75	0	ENST00000306329.11:c.1255C>T	p.Arg419Ter	p.R419*	ENST00000306329		419	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS11841.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTCGAAGC	NONE	.	.	hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	.	ENSP00000352927	.	3/17	.	.	.	.	.	.	.	.	COSM3891379	3/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,stop_gained,p.Arg59Ter,ENST00000517570,;SOGA2,stop_gained,p.Arg59Ter,ENST00000400050,;SOGA2,stop_gained,p.Arg419Ter,ENST00000306329,;SOGA2,stop_gained,p.Arg59Ter,ENST00000359865,;SOGA2,5_prime_UTR_variant,,ENST00000306285,;SOGA2,downstream_gene_variant,,ENST00000523122,;Y_RNA,downstream_gene_variant,,ENST00000516510,;SOGA2,non_coding_transcript_exon_variant,,ENST00000522146,;	317	75	53	SUCCESS
SPPL2B	56928	.	GRCh37	19	2353116	2353116	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs370487096	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	86	0	ENST00000452401.2:n.1828C>A		p.*610*	ENST00000452401				0	T:0	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCCCCA	NONE	.	.	.	.	T:0.0001	.	.	.	.	.	.	.	.	.	.	.	rs370487096	.	PASS	ENST00000609490	Transcript	.	.	ENSG00000273116	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LLfos-48D6.1	Clone_based_vega_gene	.	.	.	SNV	LLfos-48D6.1,intron_variant,,ENST00000609490,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000590295,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000592845,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000610255,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000586377,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000452401,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000589515,;	.	86	57	SUCCESS
ZNF681	148213	.	GRCh37	19	23927260	23927260	+	synonymous_variant	Silent	SNP	C	C	T	rs192553417	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	36	0	ENST00000395385.3:c.885G>A	p.Lys295=	p.K295=	ENST00000395385		295	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS12414.2	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCTTCTC	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	rs192553417	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,synonymous_variant,p.%3D,ENST00000395385,;ZNF681,synonymous_variant,p.%3D,ENST00000402377,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	1234	36	45	SUCCESS
WDR87	83889	.	GRCh37	19	38375654	38375654	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	28	70	0	ENST00000303868.5:c.8540T>C	p.Leu2847Ser	p.L2847S	ENST00000303868	NM_031951.3	2847	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS46063.1	8540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTAAGATC	NONE	.	.	.	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Leu2886Ser,ENST00000447313,;WDR87,missense_variant,p.Leu2847Ser,ENST00000303868,;	8765	70	133	SUCCESS
SPRED3	399473	.	GRCh37	19	38885051	38885051	+	intron_variant	Intron	SNP	G	G	T	rs757907935	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	52	0	ENST00000338502.4:c.424-232G>T		p.*142*	ENST00000338502	NM_001042522.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42560.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAACCGCATCC	NONE	byFrequency	.	.	.	.	ENSP00000345405	.	.	.	.	.	.	.	.	.	.	rs757907935	.	PASS	ENST00000338502	Transcript	.	.	ENSG00000188766	31041	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPRE3_HUMAN	SPRED3	HGNC	K7EPT9_HUMAN	.	UPI000040BCE3	SNV	SPRED3,intron_variant,,ENST00000587947,;SPRED3,intron_variant,,ENST00000338502,;SPRED3,intron_variant,,ENST00000586301,;SPRED3,intron_variant,,ENST00000587013,;AC005789.11,upstream_gene_variant,,ENST00000588453,;SPRED3,non_coding_transcript_exon_variant,,ENST00000587564,;SPRED3,3_prime_UTR_variant,,ENST00000586958,;SPRED3,downstream_gene_variant,,ENST00000590962,;	.	52	81	SUCCESS
LGALS4	3960	.	GRCh37	19	39299453	39299453	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	20	92	0	ENST00000307751.4:c.270G>A	p.Lys90=	p.K90=	ENST00000307751	NM_006149.3	90	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS12521.1	270	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCTTCCT	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF32,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000302100	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000307751	Transcript	.	.	ENSG00000171747	6565	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LEG4_HUMAN	LGALS4	HGNC	Q6FHZ4_HUMAN,M0R349_HUMAN	.	UPI0000001651	SNV	LGALS4,synonymous_variant,p.%3D,ENST00000307751,;LGALS4,upstream_gene_variant,,ENST00000600070,;LGALS4,downstream_gene_variant,,ENST00000594209,;LGALS4,intron_variant,,ENST00000597803,;LGALS4,non_coding_transcript_exon_variant,,ENST00000595278,;LGALS4,non_coding_transcript_exon_variant,,ENST00000597153,;LGALS4,non_coding_transcript_exon_variant,,ENST00000596628,;LGALS4,upstream_gene_variant,,ENST00000595291,;	748	92	126	SUCCESS
C19orf69	0	.	GRCh37	19	41949917	41949917	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	40	0	ENST00000378187.2:c.181C>T	p.Leu61=	p.L61=	ENST00000378187	NM_001130514.1	61	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46085.1	181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTGCGC	NONE	.	.	Pfam_domain:PF15039	.	.	ENSP00000367429	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378187	Transcript	.	.	ENSG00000204978	34497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS069_HUMAN	C19orf69	HGNC	.	.	UPI00017503B7	SNV	C19orf69,synonymous_variant,p.%3D,ENST00000378187,;ATP5SL,upstream_gene_variant,,ENST00000438807,;ATP5SL,upstream_gene_variant,,ENST00000221943,;ATP5SL,upstream_gene_variant,,ENST00000417807,;ATP5SL,upstream_gene_variant,,ENST00000592922,;ATP5SL,upstream_gene_variant,,ENST00000589102,;ATP5SL,upstream_gene_variant,,ENST00000597457,;ATP5SL,upstream_gene_variant,,ENST00000589970,;ATP5SL,upstream_gene_variant,,ENST00000595425,;ATP5SL,upstream_gene_variant,,ENST00000301183,;ATP5SL,upstream_gene_variant,,ENST00000586786,;ATP5SL,upstream_gene_variant,,ENST00000590641,;ATP5SL,upstream_gene_variant,,ENST00000589503,;ATP5SL,upstream_gene_variant,,ENST00000597608,;ATP5SL,upstream_gene_variant,,ENST00000594339,;ATP5SL,upstream_gene_variant,,ENST00000595407,;	193	40	36	SUCCESS
ETHE1	23474	.	GRCh37	19	44015587	44015587	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	58	0	ENST00000292147.2:c.505+2T>A		p.X169_splice	ENST00000292147	NM_014297.3	169		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12622.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCACCTTG	NONE	.	.	.	.	.	ENSP00000292147	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292147	Transcript	1	.	ENSG00000105755	23287	.	.	HIGH	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETHE1_HUMAN	ETHE1	HGNC	B2RCZ7_HUMAN	.	UPI0000073C7C	SNV	ETHE1,splice_donor_variant,,ENST00000292147,;ETHE1,splice_donor_variant,,ENST00000600651,;ETHE1,splice_donor_variant,,ENST00000594342,;ETHE1,splice_donor_variant,,ENST00000598330,;ETHE1,downstream_gene_variant,,ENST00000602138,;	.	58	74	SUCCESS
CEACAM18	729767	.	GRCh37	19	51986563	51986563	+	intron_variant	Intron	SNP	C	C	T	rs1455179944	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	54	1	ENST00000396477.4:c.953+13C>T		p.*318*	ENST00000396477	NM_001278392.1	383		0	.	.	.	.	.	T	S	protein_coding	YES	.	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCCCTCC	NONE	.	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF6	.	.	ENSP00000402203	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000451626	Transcript	.	.	ENSG00000213822	31949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CEACAM18	HGNC	.	.	UPI0000DD8506	SNV	CEACAM18,synonymous_variant,p.%3D,ENST00000451626,;CEACAM18,intron_variant,,ENST00000396477,;	1149	55	70	SUCCESS
LILRB5	10990	.	GRCh37	19	54759290	54759290	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747129896	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	50	118	0	ENST00000449561.2:c.811C>A	p.Pro271Thr	p.P271T	ENST00000449561		271	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46176.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCTGCT	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000406478	.	5/13	.	.	.	.	.	.	.	.	rs747129896	5/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	tolerated(0.32)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Pro171Thr,ENST00000345866,;LILRB5,missense_variant,p.Pro262Thr,ENST00000450632,;LILRB5,missense_variant,p.Pro271Thr,ENST00000449561,;LILRB5,missense_variant,p.Pro271Thr,ENST00000316219,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;	882	118	170	SUCCESS
ZNF582	147948	.	GRCh37	19	56895232	56895232	+	stop_retained_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	36	0	ENST00000301310.4:c.1554G>A	p.Ter518=	p.*518=	ENST00000301310	NM_144690.1	518	taG/taA	0	.	.	.	.	.	T	*	protein_coding	YES	CCDS33121.1	1554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCCTAGGC	NONE	.	.	.	.	.	ENSP00000301310	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301310	Transcript	.	.	ENSG00000018869	26421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN582_HUMAN	ZNF582	HGNC	B4DQZ9_HUMAN	.	UPI000006D278	SNV	ZNF582,stop_retained_variant,p.%3D,ENST00000586929,;ZNF582,stop_retained_variant,p.%3D,ENST00000301310,;ZNF582,intron_variant,,ENST00000589143,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF542,downstream_gene_variant,,ENST00000467807,;ZNF542,downstream_gene_variant,,ENST00000495307,;ZNF542,downstream_gene_variant,,ENST00000490123,;ZNF582,downstream_gene_variant,,ENST00000593145,;ZNF582,downstream_gene_variant,,ENST00000587778,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;	1713	36	42	SUCCESS
ZNF419	79744	.	GRCh37	19	58004589	58004589	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	31	111	0	ENST00000221735.7:c.664C>G	p.Gln222Glu	p.Q222E	ENST00000221735		222	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS54325.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCAGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF195,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000388864	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000424930	Transcript	.	.	ENSG00000105136	20648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.635)	.	deleterious(0)	.	ZN419_HUMAN	ZNF419	HGNC	.	.	UPI0000E04CBA	SNV	ZNF419,missense_variant,p.Gln209Glu,ENST00000442920,;ZNF419,missense_variant,p.Gln222Glu,ENST00000221735,;ZNF419,missense_variant,p.Gln176Glu,ENST00000415379,;ZNF419,missense_variant,p.Gln190Glu,ENST00000347466,;ZNF419,missense_variant,p.Gln210Glu,ENST00000354197,;ZNF419,missense_variant,p.Gln223Glu,ENST00000424930,;ZNF419,missense_variant,p.Gln210Glu,ENST00000426954,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000519310,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000599674,;AC003005.4,intron_variant,,ENST00000601674,;	896	111	143	SUCCESS
SLC27A5	10998	.	GRCh37	19	59010879	59010879	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	69	0	ENST00000263093.2:c.1647C>T	p.Asp549=	p.D549=	ENST00000263093	NM_012254.2	549	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS12983.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGTCGCG	NONE	.	.	hmmpanther:PTHR24096:SF99,hmmpanther:PTHR24096,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000263093	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000263093	Transcript	.	.	ENSG00000083807	10999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S27A5_HUMAN	SLC27A5	HGNC	M0R075_HUMAN	.	UPI0000072ECE	SNV	SLC27A5,synonymous_variant,p.%3D,ENST00000601355,;SLC27A5,synonymous_variant,p.%3D,ENST00000263093,;SLC27A5,upstream_gene_variant,,ENST00000594786,;SLC27A5,upstream_gene_variant,,ENST00000599700,;SLC27A5,upstream_gene_variant,,ENST00000601997,;SLC27A5,downstream_gene_variant,,ENST00000594683,;SLC27A5,upstream_gene_variant,,ENST00000595851,;	1757	69	83	SUCCESS
ANGPTL4	51129	.	GRCh37	19	8436287	8436287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	68	0	ENST00000301455.2:c.920C>A	p.Pro307His	p.P307H	ENST00000301455	NM_139314.1	307	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS12200.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCCGTGG	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF16,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000301455	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000301455	Transcript	.	.	ENSG00000167772	16039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	ANGL4_HUMAN	ANGPTL4	HGNC	M0R3A2_HUMAN,M0R0N8_HUMAN,M0QZ51_HUMAN,F5H0I2_HUMAN	.	UPI000003747B	SNV	ANGPTL4,missense_variant,p.Pro269His,ENST00000393962,;ANGPTL4,missense_variant,p.Pro140His,ENST00000541807,;ANGPTL4,missense_variant,p.Pro307His,ENST00000301455,;ANGPTL4,intron_variant,,ENST00000594875,;RAB11B-AS1,downstream_gene_variant,,ENST00000597785,;RAB11B-AS1,downstream_gene_variant,,ENST00000597407,;RAB11B-AS1,downstream_gene_variant,,ENST00000593581,;ANGPTL4,missense_variant,p.Pro307His,ENST00000593998,;ANGPTL4,3_prime_UTR_variant,,ENST00000595079,;ANGPTL4,downstream_gene_variant,,ENST00000598255,;ANGPTL4,downstream_gene_variant,,ENST00000594348,;ANGPTL4,downstream_gene_variant,,ENST00000597137,;	1091	68	55	SUCCESS
DFFA	1676	.	GRCh37	1	10523576	10523576	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	28	0	ENST00000377038.3:c.543A>G	p.Gln181=	p.Q181=	ENST00000377038	NM_004401.2	181	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS118.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTTTGGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF16,Pfam_domain:PF09033,PIRSF_domain:PIRSF037865	.	.	ENSP00000366237	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000377038	Transcript	.	.	ENSG00000160049	2772	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFFA_HUMAN	DFFA	HGNC	.	.	UPI00001291FA	SNV	DFFA,synonymous_variant,p.%3D,ENST00000377036,;DFFA,synonymous_variant,p.%3D,ENST00000377038,;RP5-1113E3.3,downstream_gene_variant,,ENST00000424487,;DFFA,intron_variant,,ENST00000476658,;	611	28	24	SUCCESS
ATXN7L2	127002	.	GRCh37	1	110033758	110033758	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	121	0	ENST00000369870.3:c.1573T>A	p.Cys525Ser	p.C525S	ENST00000369870	NM_153340.4	525	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS30794.1	1573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTGCATG	NONE	.	.	hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF5	.	.	ENSP00000358886	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000369870	Transcript	.	.	ENSG00000162650	28713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.66)	.	AT7L2_HUMAN	ATXN7L2	HGNC	Q5T6C4_HUMAN	.	UPI0000470BE5	SNV	ATXN7L2,missense_variant,p.Cys525Ser,ENST00000369870,;CYB561D1,upstream_gene_variant,,ENST00000310611,;CYB561D1,upstream_gene_variant,,ENST00000528785,;CYB561D1,upstream_gene_variant,,ENST00000420578,;CYB561D1,upstream_gene_variant,,ENST00000430195,;CYB561D1,upstream_gene_variant,,ENST00000527072,;CYB561D1,upstream_gene_variant,,ENST00000533024,;CYB561D1,upstream_gene_variant,,ENST00000496961,;CYB561D1,upstream_gene_variant,,ENST00000393709,;CYB561D1,upstream_gene_variant,,ENST00000369868,;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000459635,;ATXN7L2,downstream_gene_variant,,ENST00000604728,;ATXN7L2,3_prime_UTR_variant,,ENST00000463678,;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000369869,;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000497545,;	1588	121	119	SUCCESS
IVL	3713	.	GRCh37	1	152883884	152883884	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	86	0	ENST00000368764.3:c.1611G>A	p.Lys537=	p.K537=	ENST00000368764		537	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS1030.1	1611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGGGGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,synonymous_variant,p.%3D,ENST00000368764,;IVL,synonymous_variant,p.%3D,ENST00000392667,;	1675	86	75	SUCCESS
IQGAP3	128239	.	GRCh37	1	156503902	156503902	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	25	0	ENST00000361170.2:c.3772G>C	p.Glu1258Gln	p.E1258Q	ENST00000361170	NM_178229.4	1258	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS1144.1	3772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCTGGCA	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000354451	.	30/38	.	.	.	.	.	.	.	.	.	30/38	PASS	ENST00000361170	Transcript	.	.	ENSG00000183856	20669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	IQGA3_HUMAN	IQGAP3	HGNC	F2Z2E2_HUMAN	.	UPI000046FFDD	SNV	IQGAP3,missense_variant,p.Glu1258Gln,ENST00000361170,;snoU13,downstream_gene_variant,,ENST00000458777,;IQGAP3,downstream_gene_variant,,ENST00000476565,;IQGAP3,downstream_gene_variant,,ENST00000498755,;IQGAP3,missense_variant,p.Glu1215Gln,ENST00000491900,;	3783	25	27	SUCCESS
INSRR	3645	.	GRCh37	1	156815496	156815496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	54	0	ENST00000368195.3:c.2089C>A	p.Gln697Lys	p.Q697K	ENST00000368195	NM_014215.2	697	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1160.1	2089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTGACCAG	BUFFER|p.V698A|c.2093T>C|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,SMART_domains:SM00060,PIRSF_domain:PIRSF000620	.	.	ENSP00000357178	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.42)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Gln697Lys,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	2486	54	70	SUCCESS
ATP1A2	477	.	GRCh37	1	160093074	160093074	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	60	0	ENST00000361216.3:c.249A>G	p.Thr83=	p.T83=	ENST00000361216	NM_000702.3	83	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS1196.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAACCCC	NONE	.	.	hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00690,Gene3D:2.70.150.10,SMART_domains:SM00831,Superfamily_domains:0049473	.	.	ENSP00000354490	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,synonymous_variant,p.%3D,ENST00000361216,;ATP1A2,synonymous_variant,p.%3D,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000478587,;ATP1A2,upstream_gene_variant,,ENST00000468587,;	338	60	81	SUCCESS
TNN	63923	.	GRCh37	1	175048844	175048844	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	101	0	ENST00000239462.4:c.784+1G>A		p.X262_splice	ENST00000239462	NM_022093.1	262		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30943.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGTGAGA	NONE	.	.	.	.	.	ENSP00000239462	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	HIGH	3/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,splice_donor_variant,,ENST00000239462,;	.	101	94	SUCCESS
KIF21B	23046	.	GRCh37	1	200946389	200946389	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	70	0	ENST00000422435.2:c.4276A>G	p.Met1426Val	p.M1426V	ENST00000422435	NM_001252100.1	1426	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS58056.1	4276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATGGTGC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000411831	.	31/35	.	.	.	.	.	.	.	.	.	31/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.84)	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,missense_variant,p.Met1426Val,ENST00000422435,;KIF21B,missense_variant,p.Met1413Val,ENST00000360529,;KIF21B,missense_variant,p.Met1426Val,ENST00000461742,;KIF21B,missense_variant,p.Met1413Val,ENST00000332129,;	4593	70	61	SUCCESS
LGR6	59352	.	GRCh37	1	202273760	202273760	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	74	0	ENST00000367278.3:c.1070+2T>A		p.X357_splice	ENST00000367278	NM_001017403.1	357		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30971.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGTGAGTG	NONE	.	.	.	.	.	ENSP00000356247	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	HIGH	11/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,splice_donor_variant,,ENST00000255432,;LGR6,splice_donor_variant,,ENST00000367278,;LGR6,splice_donor_variant,,ENST00000423542,;LGR6,splice_donor_variant,,ENST00000439764,;LGR6,splice_donor_variant,,ENST00000308543,;LGR6,splice_donor_variant,,ENST00000487787,;	.	74	101	SUCCESS
MFSD4	0	.	GRCh37	1	205568372	205568372	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	53	0	ENST00000367147.4:c.1484del	p.Pro495HisfsTer24	p.P495Hfs*24	ENST00000367147	NM_181644.4	494	ctC/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS1455.1	1482	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGACTCCCATC	NONE	.	.	hmmpanther:PTHR23121:SF10,hmmpanther:PTHR23121	.	.	ENSP00000356115	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000367147	Transcript	.	.	ENSG00000174514	25433	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MFSD4_HUMAN	MFSD4	HGNC	.	.	UPI000019855C	deletion	MFSD4,frameshift_variant,p.Pro408HisfsTer24,ENST00000536357,;MFSD4,frameshift_variant,p.Pro495HisfsTer24,ENST00000367147,;MFSD4,3_prime_UTR_variant,,ENST00000539267,;RNU6-418P,downstream_gene_variant,,ENST00000384035,;MFSD4,non_coding_transcript_exon_variant,,ENST00000465651,;MFSD4,non_coding_transcript_exon_variant,,ENST00000478555,;MFSD4,non_coding_transcript_exon_variant,,ENST00000489709,;MFSD4,non_coding_transcript_exon_variant,,ENST00000475956,;MFSD4,downstream_gene_variant,,ENST00000471425,;	1575	53	45	SUCCESS
IRF6	3664	.	GRCh37	1	209961787	209961787	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	45	0	ENST00000367021.3:c.1382C>T	p.Pro461Leu	p.P461L	ENST00000367021	NM_006147.3	461	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1492.1	1382	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGGGGGCAGT	NONE	.	.	.	.	.	ENSP00000355988	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000367021	Transcript	.	.	ENSG00000117595	6121	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	deleterious(0.02)	.	IRF6_HUMAN	IRF6	HGNC	G0Z349_HUMAN,B1AJU4_HUMAN	.	UPI000012D88D	SNV	IRF6,missense_variant,p.Pro366Leu,ENST00000542854,;IRF6,missense_variant,p.Pro461Leu,ENST00000367021,;IRF6,downstream_gene_variant,,ENST00000456314,;C1orf74,upstream_gene_variant,,ENST00000294811,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,downstream_gene_variant,,ENST00000464698,;	1555	45	53	SUCCESS
TATDN3	128387	.	GRCh37	1	212977961	212977961	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs772985661	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	65	224	0	ENST00000366974.4:c.455G>C	p.Gly152Ala	p.G152A	ENST00000366974	NM_001042553.2	152	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS53475.1	455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGAAGAC	NONE	.	.	hmmpanther:PTHR10060,Pfam_domain:PF01026,Gene3D:3.20.20.140,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556	.	.	ENSP00000431376	.	7/10	.	.	.	.	.	.	.	.	rs772985661	7/10	PASS	ENST00000532324	Transcript	.	.	ENSG00000203705	27010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	tolerated(0.18)	.	TATD3_HUMAN	TATDN3	HGNC	.	.	UPI0000205E43	SNV	TATDN3,missense_variant,p.Gly151Ala,ENST00000530399,;TATDN3,missense_variant,p.Gly152Ala,ENST00000526997,;TATDN3,missense_variant,p.Gly131Ala,ENST00000526641,;TATDN3,missense_variant,p.Gly152Ala,ENST00000366973,;TATDN3,missense_variant,p.Gly152Ala,ENST00000366974,;TATDN3,missense_variant,p.Gly152Ala,ENST00000532324,;TATDN3,missense_variant,p.Gly152Ala,ENST00000531963,;TATDN3,coding_sequence_variant,p.%3D,ENST00000527693,;TATDN3,downstream_gene_variant,,ENST00000530441,;TATDN3,downstream_gene_variant,,ENST00000488246,;TATDN3,non_coding_transcript_exon_variant,,ENST00000525569,;TATDN3,downstream_gene_variant,,ENST00000497768,;TATDN3,downstream_gene_variant,,ENST00000530392,;TATDN3,3_prime_UTR_variant,,ENST00000525574,;TATDN3,intron_variant,,ENST00000533650,;	549	224	203	SUCCESS
ANGEL2	90806	.	GRCh37	1	213181634	213181634	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751644663	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	36	172	0	ENST00000366962.3:c.560A>G	p.Tyr187Cys	p.Y187C	ENST00000366962	NM_144567.3	187	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1512.1	560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTATAAAGG	NONE	.	.	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12121:SF27,hmmpanther:PTHR12121	.	.	ENSP00000355929	.	3/9	.	.	.	.	.	.	.	.	rs751644663	3/9	PASS	ENST00000366962	Transcript	.	.	ENSG00000174606	30534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANGE2_HUMAN	ANGEL2	HGNC	.	.	UPI00001D3EF4	SNV	ANGEL2,missense_variant,p.Tyr18Cys,ENST00000360506,;ANGEL2,missense_variant,p.Tyr18Cys,ENST00000535388,;ANGEL2,missense_variant,p.Tyr18Cys,ENST00000544555,;ANGEL2,missense_variant,p.Tyr61Cys,ENST00000540642,;ANGEL2,missense_variant,p.Tyr187Cys,ENST00000366962,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000476904,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000460337,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000481918,;	715	172	143	SUCCESS
TLR5	7100	.	GRCh37	1	223284946	223284946	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	77	0	ENST00000366881.1:c.1428A>G	p.Glu476=	p.E476=	ENST00000366881	NM_003268.5	476	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS31033.1	1428	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTTCTAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF221,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000440643	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000540964	Transcript	.	.	ENSG00000187554	11851	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TLR5_HUMAN	TLR5	HGNC	B1AZ06_HUMAN	.	UPI0000205D14	SNV	TLR5,synonymous_variant,p.%3D,ENST00000342210,;TLR5,synonymous_variant,p.%3D,ENST00000366881,;TLR5,synonymous_variant,p.%3D,ENST00000540964,;TLR5,downstream_gene_variant,,ENST00000407096,;	1890	77	99	SUCCESS
OBSCN	84033	.	GRCh37	1	228399589	228399589	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	30	114	0	ENST00000422127.1:c.105T>G	p.Gly35=	p.G35=	ENST00000422127	NM_001098623.2	35	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS59204.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGTAATCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	2/116	.	.	.	.	.	.	.	.	.	2/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;C1orf145,intron_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,intron_variant,,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;	179	114	123	SUCCESS
TARBP1	6894	.	GRCh37	1	234565278	234565278	+	synonymous_variant	Silent	SNP	G	G	A	rs1335318490	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	37	144	0	ENST00000040877.1:c.2755C>T	p.Leu919=	p.L919=	ENST00000040877	NM_005646.3	919	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1601.1	2755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTAGAAACG	NONE	.	.	PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11,Superfamily_domains:SSF48371	.	.	ENSP00000040877	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000040877	Transcript	.	.	ENSG00000059588	11568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TARB1_HUMAN	TARBP1	HGNC	.	.	UPI000006DB0F	SNV	TARBP1,synonymous_variant,p.%3D,ENST00000040877,;	2755	144	156	SUCCESS
ZP4	57829	.	GRCh37	1	238045816	238045816	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	54	0	ENST00000366570.4:c.1529C>A	p.Ala510Glu	p.A510E	ENST00000366570	NM_021186.3	510	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS1615.1	1529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGCCACC	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000355529	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000366570	Transcript	.	.	ENSG00000116996	15770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0.05)	.	ZP4_HUMAN	ZP4	HGNC	.	.	UPI000006F0E4	SNV	ZP4,missense_variant,p.Ala510Glu,ENST00000366570,;RP11-193H5.1,non_coding_transcript_exon_variant,,ENST00000450451,;	1688	54	56	SUCCESS
MYCL	4610	.	GRCh37	1	40366890	40366890	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779869778	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	152	0	ENST00000397332.2:c.307G>T	p.Ala103Ser	p.A103S	ENST00000397332	NM_001033082.2	103	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS53300.1	307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGCTTCGT	NONE	byFrequency	.	hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF1,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705	.	.	ENSP00000380494	.	2/3	.	.	.	.	.	.	.	.	rs779869778	2/3	PASS	ENST00000397332	Transcript	.	.	ENSG00000116990	7555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.74)	.	.	MYCL	HGNC	Q86YL9_HUMAN,E9PQS5_HUMAN	.	UPI000047097E	SNV	MYCL,missense_variant,p.Ala103Ser,ENST00000372815,;MYCL,missense_variant,p.Ala73Ser,ENST00000450953,;MYCL,missense_variant,p.Ala73Ser,ENST00000372816,;MYCL,missense_variant,p.Ala103Ser,ENST00000397332,;MYCL,missense_variant,p.Ala73Ser,ENST00000429311,;RP1-118J21.5,downstream_gene_variant,,ENST00000418255,;	432	152	78	SUCCESS
SLC1A7	6512	.	GRCh37	1	53553703	53553703	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	46	103	0	ENST00000371494.4:c.1661G>A	p.Ser554Asn	p.S554N	ENST00000371494	NM_006671.4	554	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS574.1	1661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACTGATC	NONE	.	.	.	.	.	ENSP00000360549	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000371494	Transcript	.	.	ENSG00000162383	10945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	EAA5_HUMAN	SLC1A7	HGNC	F1T0D2_HUMAN	.	UPI000013DED8	SNV	SLC1A7,missense_variant,p.Ser554Asn,ENST00000371494,;PODN,downstream_gene_variant,,ENST00000312553,;PODN,downstream_gene_variant,,ENST00000371500,;PODN,downstream_gene_variant,,ENST00000395871,;RP11-334A14.5,upstream_gene_variant,,ENST00000447867,;SLC1A7,non_coding_transcript_exon_variant,,ENST00000488036,;	1789	103	82	SUCCESS
SNX7	51375	.	GRCh37	1	99167435	99167435	+	synonymous_variant	Silent	SNP	C	C	G	rs1557808080	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	38	175	1	ENST00000306121.3:c.1101C>G	p.Thr367=	p.T367=	ENST00000306121	NM_015976.4	367	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS755.2	1101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACCTATAA	NONE	.	.	hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555	.	.	ENSP00000304429	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000306121	Transcript	.	.	ENSG00000162627	14971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX7_HUMAN	SNX7	HGNC	B7ZC83_HUMAN	.	UPI0000205396	SNV	SNX7,synonymous_variant,p.%3D,ENST00000370189,;SNX7,synonymous_variant,p.%3D,ENST00000306121,;SNX7,synonymous_variant,p.%3D,ENST00000529992,;SNX7,3_prime_UTR_variant,,ENST00000528824,;	1110	176	118	SUCCESS
MACROD2	140733	.	GRCh37	20	15967381	15967381	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	58	225	0	ENST00000217246.4:c.995A>T	p.Asn332Ile	p.N332I	ENST00000217246	NM_080676.5	332	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS13120.2	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAATGATT	NONE	.	.	hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF54	.	.	ENSP00000217246	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000217246	Transcript	.	.	ENSG00000172264	16126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	deleterious_low_confidence(0)	.	MACD2_HUMAN	MACROD2	HGNC	.	.	UPI00005B2E12	SNV	MACROD2,missense_variant,p.Asn97Ile,ENST00000378058,;MACROD2,missense_variant,p.Asn332Ile,ENST00000217246,;MACROD2,missense_variant,p.Asn97Ile,ENST00000402914,;MACROD2,missense_variant,p.Asn332Ile,ENST00000310348,;MACROD2,5_prime_UTR_variant,,ENST00000407045,;MACROD2,non_coding_transcript_exon_variant,,ENST00000486914,;	1390	225	167	SUCCESS
PREX1	57580	.	GRCh37	20	47271890	47271890	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775874146	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	89	0	ENST00000371941.3:c.2147C>A	p.Pro716Gln	p.P716Q	ENST00000371941	NM_020820.3	716	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS13410.1	2147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGGCTGG	NONE	byFrequency	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000361009	.	19/40	.	.	.	.	.	.	.	.	rs775874146	19/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	deleterious(0.04)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Pro716Gln,ENST00000396220,;PREX1,missense_variant,p.Pro716Gln,ENST00000371941,;PREX1,missense_variant,p.Pro38Gln,ENST00000482556,;	2170	89	84	SUCCESS
B3GALT5	10317	.	GRCh37	21	41032560	41032560	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs545552313	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	61	0	ENST00000343118.4:c.74T>C	p.Met25Thr	p.M25T	ENST00000343118	NM_033171.2	25	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS13667.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCATGTACA	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11214:SF18,hmmpanther:PTHR11214	.	.	ENSP00000369994	.	5/5	.	.	.	.	.	.	.	.	rs545552313	5/5	PASS	ENST00000380620	Transcript	.	.	ENSG00000183778	920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.26)	.	B3GT5_HUMAN	B3GALT5	HGNC	.	.	UPI0000126713	SNV	B3GALT5,missense_variant,p.Met25Thr,ENST00000380620,;B3GALT5,missense_variant,p.Met25Thr,ENST00000398714,;B3GALT5,missense_variant,p.Met25Thr,ENST00000343118,;B3GALT5,missense_variant,p.Met25Thr,ENST00000380618,;AF064860.5,intron_variant,,ENST00000416555,;	666	61	61	SUCCESS
SLC5A4	6527	.	GRCh37	22	32633303	32633303	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770699777	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	71	0	ENST00000266086.4:c.592G>A	p.Ala198Thr	p.A198T	ENST00000266086	NM_014227.2	198	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13903.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCCAAGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF112,hmmpanther:PTHR11819,PROSITE_patterns:PS00456,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266086	.	7/15	.	.	.	.	.	.	.	.	rs770699777,COSM1033602	7/15	PASS	ENST00000266086	Transcript	.	.	ENSG00000100191	11039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.248)	.	tolerated(0.23)	0,1	SC5A4_HUMAN	SLC5A4	HGNC	C7EWH7_HUMAN	.	UPI00001359F4	SNV	SLC5A4,missense_variant,p.Ala198Thr,ENST00000266086,;RP1-90G24.10,intron_variant,,ENST00000434942,;	604	71	73	SUCCESS
PARVB	29780	.	GRCh37	22	44527389	44527389	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	20	151	0	ENST00000338758.7:c.399G>C	p.Leu133=	p.L133=	ENST00000338758	NM_013327.4	133	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS46724.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGAATGT	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR12114:SF7,hmmpanther:PTHR12114,PROSITE_profiles:PS50021	.	.	ENSP00000384515	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000406477	Transcript	.	.	ENSG00000188677	14653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARVB_HUMAN	PARVB	HGNC	.	.	UPI000041A256	SNV	PARVB,synonymous_variant,p.%3D,ENST00000404989,;PARVB,synonymous_variant,p.%3D,ENST00000406477,;PARVB,synonymous_variant,p.%3D,ENST00000444029,;PARVB,synonymous_variant,p.%3D,ENST00000338758,;PARVB,upstream_gene_variant,,ENST00000495824,;	628	151	143	SUCCESS
PLA2R1	22925	.	GRCh37	2	160879323	160879323	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	85	0	ENST00000283243.7:c.1147A>G	p.Asn383Asp	p.N383D	ENST00000283243	NM_001195641.1	383	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS33309.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATTCCAGC	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.2)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.Asn383Asp,ENST00000283243,;PLA2R1,missense_variant,p.Asn383Asp,ENST00000392771,;	1354	85	61	SUCCESS
PLA2R1	22925	.	GRCh37	2	160901376	160901376	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	104	0	ENST00000283243.7:c.402T>G	p.His134Gln	p.H134Q	ENST00000283243	NM_001195641.1	134	caT/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS33309.1	402	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCATGCGC	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000283243	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.72)	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,missense_variant,p.His134Gln,ENST00000283243,;PLA2R1,missense_variant,p.His134Gln,ENST00000392771,;	609	104	76	SUCCESS
GEN1	348654	.	GRCh37	2	17962727	17962727	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1047211166	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	93	0	ENST00000317402.7:c.2248G>T	p.Val750Phe	p.V750F	ENST00000317402	NM_182625.3	750	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1691.1	2248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAGTCAAT	NONE	.	.	hmmpanther:PTHR11081,hmmpanther:PTHR11081:SF23	.	.	ENSP00000370653	.	14/14	.	.	.	.	.	.	.	.	COSM1012933	14/14	PASS	ENST00000381254	Transcript	.	.	ENSG00000178295	26881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.169)	.	deleterious(0.02)	1	GEN_HUMAN	GEN1	HGNC	E9PM30_HUMAN,E9PLG0_HUMAN	.	UPI00004113DA	SNV	GEN1,missense_variant,p.Val750Phe,ENST00000381254,;GEN1,missense_variant,p.Val750Phe,ENST00000317402,;SMC6,intron_variant,,ENST00000428868,;SMC6,intron_variant,,ENST00000402989,;GEN1,downstream_gene_variant,,ENST00000528873,;	2462	93	89	SUCCESS
UNC80	285175	.	GRCh37	2	210650854	210650854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	45	0	ENST00000439458.1:c.665G>T	p.Arg222Ile	p.R222I	ENST00000439458	NM_032504.1	222	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS46504.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGACAGC	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	5/64	.	.	.	.	.	.	.	.	.	5/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Arg222Ile,ENST00000439458,;UNC80,missense_variant,p.Arg222Ile,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000478701,;	745	45	50	SUCCESS
ERBB4	2066	.	GRCh37	2	212495254	212495254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	72	0	ENST00000342788.4:c.2012T>C	p.Phe671Ser	p.F671S	ENST00000342788	NM_005235.2	671	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS2394.1	2012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAAATGTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000619	.	.	ENSP00000342235	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	deleterious(0.01)	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Phe661Ser,ENST00000402597,;ERBB4,missense_variant,p.Phe671Ser,ENST00000436443,;ERBB4,missense_variant,p.Phe661Ser,ENST00000260943,;ERBB4,missense_variant,p.Phe671Ser,ENST00000342788,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	2323	72	61	SUCCESS
ABCA12	26154	.	GRCh37	2	215890440	215890440	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1294829369	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	45	0	ENST00000272895.7:c.1244A>G	p.Tyr415Cys	p.Y415C	ENST00000272895	NM_173076.2	415	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33372.1	1244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATAGGAA	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	11/53	.	.	.	.	.	.	.	.	.	11/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	tolerated(0.14)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Tyr97Cys,ENST00000389661,;ABCA12,missense_variant,p.Tyr415Cys,ENST00000272895,;AC072062.3,intron_variant,,ENST00000437897,;AC072062.3,downstream_gene_variant,,ENST00000602182,;AC072062.3,downstream_gene_variant,,ENST00000419251,;AC072062.3,downstream_gene_variant,,ENST00000595058,;	1464	45	28	SUCCESS
D2HGDH	728294	.	GRCh37	2	242684139	242684139	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	6	100	0	ENST00000321264.4:c.700A>G	p.Thr234Ala	p.T234A	ENST00000321264	NM_152783.3	234	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33426.1	700	MUTECT|MUSE	.	ACGGCACTGTC	NONE	.	.	PROSITE_profiles:PS51387,hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF35,Pfam_domain:PF01565,Gene3D:3.30.465.10,Superfamily_domains:SSF56176	.	.	ENSP00000315351	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000321264	Transcript	.	.	ENSG00000180902	28358	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.213)	.	deleterious(0.03)	.	D2HDH_HUMAN	D2HGDH	HGNC	B5MCV2_HUMAN,B3KP72_HUMAN	.	UPI0000456F51	SNV	D2HGDH,missense_variant,p.Thr234Ala,ENST00000321264,;D2HGDH,missense_variant,p.Thr100Ala,ENST00000403782,;D2HGDH,missense_variant,p.Thr234Ala,ENST00000537090,;D2HGDH,missense_variant,p.Thr76Ala,ENST00000417686,;D2HGDH,missense_variant,p.Thr234Ala,ENST00000342518,;D2HGDH,intron_variant,,ENST00000454048,;D2HGDH,intron_variant,,ENST00000437164,;D2HGDH,upstream_gene_variant,,ENST00000432449,;D2HGDH,upstream_gene_variant,,ENST00000467427,;D2HGDH,upstream_gene_variant,,ENST00000496252,;D2HGDH,upstream_gene_variant,,ENST00000486953,;D2HGDH,missense_variant,p.Thr234Ala,ENST00000400769,;D2HGDH,missense_variant,p.His228Arg,ENST00000436747,;	909	100	82	SUCCESS
EFR3B	22979	.	GRCh37	2	25364302	25364302	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	52	0	ENST00000403714.3:c.1922G>A	p.Arg641Lys	p.R641K	ENST00000403714	NM_014971.1	641	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS46231.1	1922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGTGAG	NONE	.	.	hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF4	.	.	ENSP00000384081	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000403714	Transcript	.	.	ENSG00000084710	29155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(1)	.	EFR3B_HUMAN	EFR3B	HGNC	E7ESK9_HUMAN	.	UPI0000208069	SNV	EFR3B,missense_variant,p.Arg641Lys,ENST00000401432,;EFR3B,missense_variant,p.Arg476Lys,ENST00000264719,;EFR3B,missense_variant,p.Arg493Lys,ENST00000405108,;EFR3B,missense_variant,p.Arg641Lys,ENST00000403714,;EFR3B,missense_variant,p.Arg606Lys,ENST00000402191,;	2105	52	36	SUCCESS
TMEM214	54867	.	GRCh37	2	27261574	27261574	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1012642661	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	56	0	ENST00000238788.9:c.1298A>G	p.Gln433Arg	p.Q433R	ENST00000238788	NM_017727.4	433	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS42664.1	1298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACAGAAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13448,Pfam_domain:PF10151	.	.	ENSP00000238788	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000238788	Transcript	.	.	ENSG00000119777	25983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	tolerated(1)	.	TM214_HUMAN	TMEM214	HGNC	B2RD07_HUMAN	.	UPI00003FF926	SNV	TMEM214,missense_variant,p.Gln218Arg,ENST00000425720,;TMEM214,missense_variant,p.Gln93Arg,ENST00000444135,;TMEM214,missense_variant,p.Gln388Arg,ENST00000404032,;TMEM214,missense_variant,p.Gln433Arg,ENST00000238788,;AGBL5,upstream_gene_variant,,ENST00000421915,;TMEM214,missense_variant,p.Gln433Arg,ENST00000321326,;TMEM214,3_prime_UTR_variant,,ENST00000435172,;TMEM214,downstream_gene_variant,,ENST00000460904,;TMEM214,upstream_gene_variant,,ENST00000469445,;TMEM214,upstream_gene_variant,,ENST00000460665,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,downstream_gene_variant,,ENST00000495312,;TMEM214,downstream_gene_variant,,ENST00000478980,;TMEM214,downstream_gene_variant,,ENST00000475258,;	1360	56	54	SUCCESS
NRXN1	9378	.	GRCh37	2	50573856	50573856	+	intron_variant	Intron	SNP	A	A	G	rs760915604	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	46	0	ENST00000406316.2:c.3365-109748T>C		p.*1122*	ENST00000406316	NM_004801.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGACCTGT	NONE	.	.	.	.	.	ENSP00000385142	.	.	.	.	.	.	.	.	.	.	rs760915604	.	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODIFIER	18/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.Ser78Pro,ENST00000342183,;NRXN1,intron_variant,,ENST00000405472,;NRXN1,intron_variant,,ENST00000401710,;NRXN1,intron_variant,,ENST00000404971,;NRXN1,intron_variant,,ENST00000406316,;NRXN1,intron_variant,,ENST00000401669,;NRXN1,intron_variant,,ENST00000406859,;NRXN1,intron_variant,,ENST00000402717,;NRXN1,intron_variant,,ENST00000331040,;	.	46	44	SUCCESS
MEIS1	4211	.	GRCh37	2	66664888	66664888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	53	0	ENST00000272369.9:c.32A>G	p.Tyr11Cys	p.Y11C	ENST00000272369	NM_002398.2	11	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46309.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTACGGGG	NONE	.	.	hmmpanther:PTHR11850:SF63,hmmpanther:PTHR11850	.	.	ENSP00000272369	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000272369	Transcript	.	.	ENSG00000143995	7000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	MEIS1_HUMAN	MEIS1	HGNC	Q8IZZ2_HUMAN,Q53RD5_HUMAN,Q53R57_HUMAN	.	UPI000000DA5A	SNV	MEIS1,missense_variant,p.Tyr11Cys,ENST00000488550,;MEIS1,missense_variant,p.Tyr11Cys,ENST00000560281,;MEIS1,missense_variant,p.Tyr11Cys,ENST00000407092,;MEIS1,missense_variant,p.Tyr9Cys,ENST00000398506,;MEIS1,missense_variant,p.Tyr11Cys,ENST00000272369,;MEIS1,upstream_gene_variant,,ENST00000495021,;MEIS1,upstream_gene_variant,,ENST00000444274,;MEIS1,upstream_gene_variant,,ENST00000437869,;AC092669.1,downstream_gene_variant,,ENST00000454595,;MEIS1-AS2,downstream_gene_variant,,ENST00000439433,;MEIS1-AS3,upstream_gene_variant,,ENST00000454167,;MEIS1,non_coding_transcript_exon_variant,,ENST00000490726,;MEIS1,non_coding_transcript_exon_variant,,ENST00000496248,;MEIS1,missense_variant,p.Tyr11Cys,ENST00000491706,;MEIS1,upstream_gene_variant,,ENST00000466811,;MEIS1,upstream_gene_variant,,ENST00000409622,;	489	53	68	SUCCESS
ALMS1	7840	.	GRCh37	2	73680731	73680731	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	85	0	ENST00000264448.6:c.7074T>A	p.Val2358=	p.V2358=	ENST00000264448	NM_015120.4	2358	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42697.1	7074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTTAGAAG	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	.	.	ENSP00000264448	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000264448	Transcript	.	.	ENSG00000116127	428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALMS1_HUMAN	ALMS1	HGNC	A6NMY3_HUMAN	.	UPI0000212786	SNV	ALMS1,synonymous_variant,p.%3D,ENST00000377715,;ALMS1,synonymous_variant,p.%3D,ENST00000409009,;ALMS1,synonymous_variant,p.%3D,ENST00000264448,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,synonymous_variant,p.%3D,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;	7185	85	84	SUCCESS
DOK1	1796	.	GRCh37	2	74782367	74782367	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	5	123	0	ENST00000233668.5:c.147C>T	p.Ser49=	p.S49=	ENST00000233668	NM_001381.3	49	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1954.1	147	MUTECT|MUSE	.	TCGAGCTCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF46,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000233668	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000233668	Transcript	.	.	ENSG00000115325	2990	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOK1_HUMAN	DOK1	HGNC	Q2TA81_HUMAN	.	UPI00001296A9	SNV	DOK1,synonymous_variant,p.%3D,ENST00000233668,;DOK1,synonymous_variant,p.%3D,ENST00000340004,;DOK1,5_prime_UTR_variant,,ENST00000409429,;LOXL3,intron_variant,,ENST00000413469,;M1AP,downstream_gene_variant,,ENST00000290536,;M1AP,downstream_gene_variant,,ENST00000536235,;LOXL3,upstream_gene_variant,,ENST00000264094,;LOXL3,upstream_gene_variant,,ENST00000409986,;M1AP,downstream_gene_variant,,ENST00000409585,;LOXL3,upstream_gene_variant,,ENST00000409249,;M1AP,downstream_gene_variant,,ENST00000358434,;LOXL3,upstream_gene_variant,,ENST00000409549,;LOXL3,upstream_gene_variant,,ENST00000393937,;DOK1,non_coding_transcript_exon_variant,,ENST00000480318,;DOK1,non_coding_transcript_exon_variant,,ENST00000489958,;DOK1,non_coding_transcript_exon_variant,,ENST00000485132,;DOK1,non_coding_transcript_exon_variant,,ENST00000496966,;DOK1,downstream_gene_variant,,ENST00000488613,;M1AP,downstream_gene_variant,,ENST00000485997,;LOXL3,upstream_gene_variant,,ENST00000484369,;M1AP,downstream_gene_variant,,ENST00000464686,;DOK1,synonymous_variant,p.%3D,ENST00000429631,;DOK1,non_coding_transcript_exon_variant,,ENST00000475191,;DOK1,non_coding_transcript_exon_variant,,ENST00000464613,;DOK1,non_coding_transcript_exon_variant,,ENST00000474924,;DOK1,non_coding_transcript_exon_variant,,ENST00000482206,;	816	123	125	SUCCESS
CP	1356	.	GRCh37	3	148924011	148924011	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770789709	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	74	0	ENST00000264613.6:c.1152C>G	p.Asn384Lys	p.N384K	ENST00000264613	NM_000096.3	384	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS3141.1	1152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATAGTTCCA	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	6/19	.	.	.	.	.	.	.	.	rs770789709	6/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.291)	.	tolerated(0.07)	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,missense_variant,p.Asn384Lys,ENST00000264613,;CP,missense_variant,p.Asn167Lys,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Asn384Lys,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	1415	74	94	SUCCESS
COMMD2	51122	.	GRCh37	3	149468548	149468548	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	36	143	0	ENST00000473414.1:c.319A>G	p.Arg107Gly	p.R107G	ENST00000473414	NM_016094.3	107	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS3145.1	319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGTTGT	NONE	.	.	hmmpanther:PTHR15857,Pfam_domain:PF07258	.	.	ENSP00000419475	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000473414	Transcript	.	.	ENSG00000114744	24993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	deleterious(0.01)	.	COMD2_HUMAN	COMMD2	HGNC	.	.	UPI000006F2D7	SNV	COMMD2,missense_variant,p.Arg107Gly,ENST00000473414,;COMMD2,missense_variant,p.Arg107Gly,ENST00000491617,;COMMD2,3_prime_UTR_variant,,ENST00000483708,;COMMD2,non_coding_transcript_exon_variant,,ENST00000469896,;COMMD2,non_coding_transcript_exon_variant,,ENST00000463077,;COMMD2,downstream_gene_variant,,ENST00000490008,;COMMD2,downstream_gene_variant,,ENST00000483146,;	374	143	137	SUCCESS
ATP13A5	344905	.	GRCh37	3	193029669	193029669	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	49	0	ENST00000342358.4:c.2381A>T	p.His794Leu	p.H794L	ENST00000342358	NM_198505.2	794	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS33914.1	2381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAATGGTAA	NONE	.	.	Pfam_domain:PF12710,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093	.	.	ENSP00000341942	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	deleterious(0)	.	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,missense_variant,p.His794Leu,ENST00000342358,;ATP13A5-AS1,intron_variant,,ENST00000414634,;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;ATP13A5,downstream_gene_variant,,ENST00000488957,;	2499	49	82	SUCCESS
ABHD5	51099	.	GRCh37	3	43743957	43743957	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	93	0	ENST00000458276.2:c.384G>A	p.Glu128=	p.E128=	ENST00000458276	NM_016006.4	128	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2711.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGAATCA	NONE	.	.	hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF737,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000390849	.	3/7	.	.	.	.	.	.	.	.	COSM1181417	3/7	PASS	ENST00000458276	Transcript	.	.	ENSG00000011198	21396	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ABHD5_HUMAN	ABHD5	HGNC	F8W7B5_HUMAN,F6K7K5_HUMAN,F6K7K4_HUMAN,C9JBM3_HUMAN,C9J1D1_HUMAN	.	UPI00000411E4	SNV	ABHD5,synonymous_variant,p.%3D,ENST00000456453,;ABHD5,synonymous_variant,p.%3D,ENST00000458276,;ABHD5,downstream_gene_variant,,ENST00000454293,;ABHD5,3_prime_UTR_variant,,ENST00000013894,;ABHD5,downstream_gene_variant,,ENST00000486764,;	507	93	106	SUCCESS
CCR2	729230	.	GRCh37	3	46400827	46400827	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	36	0	ENST00000292301.4:c.942-341T>C		p.*314*	ENST00000292301	NM_001123041.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43078.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATCCCCC	NONE	.	.	.	.	.	ENSP00000292301	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292301	Transcript	.	.	ENSG00000121807	1603	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR2_HUMAN	CCR2	HGNC	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN	.	UPI0000043585	SNV	CCR2,3_prime_UTR_variant,,ENST00000445132,;CCR2,intron_variant,,ENST00000400888,;CCR2,intron_variant,,ENST00000292301,;CCR2,downstream_gene_variant,,ENST00000421659,;CCR2,downstream_gene_variant,,ENST00000465202,;	.	36	25	SUCCESS
COL7A1	1294	.	GRCh37	3	48624721	48624721	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1177397879	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	61	154	0	ENST00000328333.8:c.3041G>A	p.Arg1014Gln	p.R1014Q	ENST00000328333	NM_000094.3	1014	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS2773.1	3041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCGCTGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24023,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000332371	.	23/118	.	.	.	.	.	.	.	.	.	23/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Arg1014Gln,ENST00000328333,;COL7A1,missense_variant,p.Arg1014Gln,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000487017,;	3149	154	170	SUCCESS
NSUN3	63899	.	GRCh37	3	93781836	93781836	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	22	0	ENST00000314622.4:c.-135G>T		p.*45*	ENST00000314622	NM_022072.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2927.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGAGAAATT	NONE	.	.	.	.	.	ENSP00000318986	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000314622	Transcript	.	.	ENSG00000178694	26208	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSUN3_HUMAN	NSUN3	HGNC	.	.	UPI00000373B2	SNV	NSUN3,5_prime_UTR_variant,,ENST00000314622,;DHFRL1,5_prime_UTR_variant,,ENST00000394221,;DHFRL1,intron_variant,,ENST00000496983,;DHFRL1,upstream_gene_variant,,ENST00000314636,;NSUN3,non_coding_transcript_exon_variant,,ENST00000477077,;NSUN3,upstream_gene_variant,,ENST00000485793,;DHFRL1,upstream_gene_variant,,ENST00000481631,;NSUN3,upstream_gene_variant,,ENST00000468555,;NSUN3,upstream_gene_variant,,ENST00000461625,;NSUN3,5_prime_UTR_variant,,ENST00000483378,;NSUN3,non_coding_transcript_exon_variant,,ENST00000476588,;DHFRL1,upstream_gene_variant,,ENST00000461173,;	77	22	23	SUCCESS
OR5H1	26341	.	GRCh37	3	97852199	97852199	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771664669	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	125	0	ENST00000354565.2:c.658T>A	p.Phe220Ile	p.F220I	ENST00000354565	NM_001005338.1	220	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS33797.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACATTTGTT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262	.	.	ENSP00000346575	.	1/1	.	.	.	.	.	.	.	.	rs771664669	1/1	PASS	ENST00000354565	Transcript	.	.	ENSG00000231192	8346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.2)	.	OR5H1_HUMAN	OR5H1	HGNC	.	.	UPI0000197652	SNV	OR5H1,missense_variant,p.Phe220Ile,ENST00000354565,;RP11-343D2.11,intron_variant,,ENST00000508964,;	658	125	93	SUCCESS
BANK1	55024	.	GRCh37	4	102951351	102951351	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	7	215	0	ENST00000322953.4:c.1829G>C	p.Arg610Thr	p.R610T	ENST00000322953	NM_017935.4	610	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS34038.1	1829	MUTECT|MUSE	.	AAATAGACCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF10	.	.	ENSP00000320509	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000322953	Transcript	1	.	ENSG00000153064	18233	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	BANK1_HUMAN	BANK1	HGNC	.	.	UPI0000D6159D	SNV	BANK1,missense_variant,p.Arg477Thr,ENST00000508653,;BANK1,missense_variant,p.Arg477Thr,ENST00000428908,;BANK1,missense_variant,p.Arg595Thr,ENST00000504592,;BANK1,missense_variant,p.Arg580Thr,ENST00000444316,;BANK1,missense_variant,p.Arg610Thr,ENST00000322953,;RP11-498M5.2,intron_variant,,ENST00000505091,;BANK1,downstream_gene_variant,,ENST00000510950,;	2103	215	164	SUCCESS
NDST4	64579	.	GRCh37	4	115754812	115754812	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	145	0	ENST00000264363.2:c.2346C>A	p.Val782=	p.V782=	ENST00000264363	NM_022569.1	782	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3706.1	2346	MUTECT|MUSE|VARSCANS	.	TTCTGGACTTC	BUFFER|p.D780N|c.2338G>A|3	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	.	.	ENSP00000264363	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000264363	Transcript	.	.	ENSG00000138653	20779	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDST4_HUMAN	NDST4	HGNC	.	.	UPI000006CED7	SNV	NDST4,synonymous_variant,p.%3D,ENST00000264363,;NDST4,3_prime_UTR_variant,,ENST00000504854,;	3025	145	80	SUCCESS
GYPA	2993	.	GRCh37	4	145038020	145038020	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764421603	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	57	274	2	ENST00000360771.4:c.344G>A	p.Arg115His	p.R115H	ENST00000360771	NM_002099.6	115	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34069.1	344	RADIA|SOMATICSNIPER|VARSCANS	.	GTCGGCGAATA	BUFFER|p.R115C|c.343C>T|4,BUFFER|p.G113C|c.337G>T|3	byFrequency	.	hmmpanther:PTHR13813:SF0,hmmpanther:PTHR13813,Gene3D:1.20.5.70,Pfam_domain:PF01102,PIRSF_domain:PIRSF002466	.	.	ENSP00000354003	.	5/7	.	.	.	.	.	.	.	.	rs764421603	5/7	PASS	ENST00000360771	Transcript	1	.	ENSG00000170180	4702	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.885)	.	tolerated(0.1)	.	GLPA_HUMAN	GYPA	HGNC	Q9UE44_HUMAN,Q14438_HUMAN	.	UPI000016A9B9	SNV	GYPA,missense_variant,p.Arg50His,ENST00000512789,;GYPA,missense_variant,p.Arg89His,ENST00000535709,;GYPA,missense_variant,p.Arg83His,ENST00000504786,;GYPA,missense_variant,p.Arg70His,ENST00000503627,;GYPA,missense_variant,p.Arg102His,ENST00000512064,;GYPA,missense_variant,p.Arg115His,ENST00000360771,;GYPA,missense_variant,p.Arg82His,ENST00000324022,;GYPB,intron_variant,,ENST00000283126,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPA,3_prime_UTR_variant,,ENST00000508337,;GYPA,upstream_gene_variant,,ENST00000510771,;GYPA,downstream_gene_variant,,ENST00000509346,;GYPA,downstream_gene_variant,,ENST00000514603,;	460	276	155	SUCCESS
SPCS3	60559	.	GRCh37	4	177249473	177249473	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	57	0	ENST00000503362.1:c.535A>G	p.Ser179Gly	p.S179G	ENST00000503362	NM_021928.3	179	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS54823.1	535	RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGAGTTAT	NONE	.	.	PIRSF_domain:PIRSF016089	.	.	ENSP00000427463	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000503362	Transcript	.	.	ENSG00000129128	26212	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.074)	.	deleterious_low_confidence(0.01)	.	SPCS3_HUMAN	SPCS3	HGNC	.	.	UPI0000000968	SNV	SPCS3,missense_variant,p.Ser179Gly,ENST00000503362,;SPCS3,non_coding_transcript_exon_variant,,ENST00000507001,;SPCS3,non_coding_transcript_exon_variant,,ENST00000507678,;SPCS3,downstream_gene_variant,,ENST00000513139,;	648	57	36	SUCCESS
SLC34A2	10568	.	GRCh37	4	25678360	25678360	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	58	109	1	ENST00000382051.3:c.2062A>G	p.Thr688Ala	p.T688A	ENST00000382051	NM_006424.2	688	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3435.1	2062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCACGGCC	NONE	.	.	.	.	.	ENSP00000371483	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000382051	Transcript	1	.	ENSG00000157765	11020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.01)	.	NPT2B_HUMAN	SLC34A2	HGNC	D6RBC0_HUMAN	.	UPI000013DF24	SNV	SLC34A2,missense_variant,p.Thr687Ala,ENST00000503434,;SLC34A2,missense_variant,p.Thr688Ala,ENST00000382051,;SLC34A2,missense_variant,p.Thr687Ala,ENST00000504570,;RP11-302F12.1,upstream_gene_variant,,ENST00000496507,;	2112	110	127	SUCCESS
ALB	213	.	GRCh37	4	74285969	74286005	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	AGGGTAAAAAACTTGTTGCTGCAAGTCAAGCTGCCTT	AGGGTAAAAAACTTGTTGCTGCAAGTCAAGCTGCCTT	-	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	AGGGTAAAAAACTTGTTGCTGCAAGTCAAGCTGCCTT	AGGGTAAAAAACTTGTTGCTGCAAGTCAAGCTGCCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	134	0	ENST00000295897.4:c.1787_1823del		p.X596_splice	ENST00000295897	NM_000477.5	596		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	?-1820	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGTTCAGGGTAAAAAACTTGTTGCTGCAAGTCAAGCTGCCTTAGGCT	NONE	.	.	.	.	.	ENSP00000295897	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	3	.	HIGH	13/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_acceptor_variant,p.Gly441AlafsTer35,ENST00000511370,;ALB,splice_acceptor_variant,p.Gly404AlafsTer35,ENST00000415165,;ALB,splice_acceptor_variant,p.Gly596AlafsTer35,ENST00000295897,;ALB,splice_acceptor_variant,p.Gly446AlafsTer35,ENST00000503124,;ALB,splice_acceptor_variant,p.Gly481AlafsTer35,ENST00000401494,;ALB,intron_variant,,ENST00000509063,;ALB,splice_acceptor_variant,,ENST00000505649,;ALB,splice_acceptor_variant,,ENST00000495173,;ALB,splice_acceptor_variant,,ENST00000508932,;ALB,splice_acceptor_variant,,ENST00000476441,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	?-1909	134	59	SUCCESS
DMXL1	1657	.	GRCh37	5	118560447	118560447	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	46	233	0	ENST00000311085.8:c.8258A>G	p.His2753Arg	p.H2753R	ENST00000311085	NM_005509.4	2753	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4125.1	8258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCATCCAA	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000309690	.	37/43	.	.	.	.	.	.	.	.	.	37/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious(0.01)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.His2774Arg,ENST00000539542,;DMXL1,missense_variant,p.His2753Arg,ENST00000311085,;DMXL1,non_coding_transcript_exon_variant,,ENST00000505312,;DMXL1,non_coding_transcript_exon_variant,,ENST00000511622,;	8338	233	186	SUCCESS
CDC25C	995	.	GRCh37	5	137625188	137625188	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	73	0	ENST00000323760.6:c.927+2T>C		p.X309_splice	ENST00000323760	NM_001790.3	309		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4202.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTACTGTT	NONE	.	.	.	.	.	ENSP00000321656	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323760	Transcript	.	.	ENSG00000158402	1727	.	.	HIGH	10/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPIP3_HUMAN	CDC25C	HGNC	D6RJC2_HUMAN	.	UPI000013E3D2	SNV	CDC25C,splice_donor_variant,,ENST00000513970,;CDC25C,splice_donor_variant,,ENST00000356505,;CDC25C,splice_donor_variant,,ENST00000323760,;CDC25C,splice_donor_variant,,ENST00000357274,;CDC25C,splice_donor_variant,,ENST00000415130,;CDC25C,splice_donor_variant,,ENST00000348983,;CDC25C,splice_donor_variant,,ENST00000514555,;CDC25C,missense_variant,p.Val105Ala,ENST00000514017,;CDC25C,downstream_gene_variant,,ENST00000503022,;	.	73	64	SUCCESS
PCDHA10	56139	.	GRCh37	5	140236128	140236128	+	synonymous_variant	Silent	SNP	A	A	G	rs1364522984	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	36	239	0	ENST00000307360.5:c.495A>G	p.Ala165=	p.A165=	ENST00000307360	NM_018901.2	165	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS54921.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGCATTGCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000506939,;PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	495	239	191	SUCCESS
NR3C1	2908	.	GRCh37	5	142680245	142680245	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	113	0	ENST00000343796.2:c.1552A>T	p.Lys518Ter	p.K518*	ENST00000343796	NM_001018075.1	518	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS34258.1	1555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTGTTAC	NONE	.	.	hmmpanther:PTHR24084:SF4,hmmpanther:PTHR24084	.	.	ENSP00000231509	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000231509	Transcript	1	.	ENSG00000113580	7978	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCR_HUMAN	NR3C1	HGNC	E5KQF6_HUMAN,Q3MSN4_HUMAN,D6RDA9_HUMAN	.	UPI000016A246	SNV	NR3C1,stop_gained,p.Lys518Ter,ENST00000394464,;NR3C1,stop_gained,p.Lys519Ter,ENST00000231509,;NR3C1,stop_gained,p.Lys518Ter,ENST00000503201,;NR3C1,stop_gained,p.Lys519Ter,ENST00000504572,;NR3C1,stop_gained,p.Lys492Ter,ENST00000424646,;NR3C1,stop_gained,p.Lys518Ter,ENST00000343796,;NR3C1,stop_gained,p.Lys121Ter,ENST00000416954,;NR3C1,stop_gained,p.Lys518Ter,ENST00000415690,;NR3C1,stop_gained,p.Lys519Ter,ENST00000394466,;NR3C1,non_coding_transcript_exon_variant,,ENST00000504336,;	2047	113	87	SUCCESS
TRIO	7204	.	GRCh37	5	14280471	14280471	+	synonymous_variant	Silent	SNP	G	G	C	rs760059943	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	71	0	ENST00000344204.4:c.273G>C	p.Pro91=	p.P91=	ENST00000344204	NM_007118.2	91	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3883.1	273	MUTECT|MUSE|VARSCANS	.	TTTCCGGCCCG	NONE	.	.	Superfamily_domains:SSF52087,SMART_domains:SM00516,Gene3D:3.40.525.10,Pfam_domain:PF13716,hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826,PROSITE_profiles:PS50191	.	.	ENSP00000339299	.	3/57	.	.	.	.	.	.	.	.	rs760059943	3/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,synonymous_variant,p.%3D,ENST00000537187,;TRIO,synonymous_variant,p.%3D,ENST00000509967,;TRIO,synonymous_variant,p.%3D,ENST00000344204,;TRIO,synonymous_variant,p.%3D,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000505971,;TRIO,non_coding_transcript_exon_variant,,ENST00000502816,;	297	71	57	SUCCESS
IRX4	50805	.	GRCh37	5	1882113	1882113	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	85	0	ENST00000231357.2:c.106G>C	p.Asp36His	p.D36H	ENST00000231357	NM_016358.2	36	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS3867.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCCGCCA	NONE	.	.	hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0)	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,missense_variant,p.Asp36His,ENST00000511126,;IRX4,missense_variant,p.Asp36His,ENST00000231357,;IRX4,missense_variant,p.Asp36His,ENST00000513692,;IRX4,missense_variant,p.Asp36His,ENST00000505790,;CTD-2194D22.3,upstream_gene_variant,,ENST00000506335,;IRX4,upstream_gene_variant,,ENST00000505938,;IRX4,missense_variant,p.Asp36His,ENST00000508261,;	563	85	62	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33892119	33892119	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	51	0	ENST00000504830.1:c.-158A>G		p.*53*	ENST00000504830	NM_030955.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34140.1	.	MUTECT|MUSE	.	CTTTTTTAAGC	NONE	.	.	.	.	.	ENSP00000422554	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,5_prime_UTR_variant,,ENST00000515401,;ADAMTS12,5_prime_UTR_variant,,ENST00000504830,;ADAMTS12,upstream_gene_variant,,ENST00000352040,;RNU6-923P,upstream_gene_variant,,ENST00000364753,;ADAMTS12,upstream_gene_variant,,ENST00000509762,;	179	51	53	SUCCESS
NIM1K	167359	.	GRCh37	5	43280745	43280745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	48	0	ENST00000326035.2:c.1225C>A	p.Pro409Thr	p.P409T	ENST00000326035	NM_153361.3	409	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3943.1	1225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTACCAGAC	NONE	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF106	.	.	ENSP00000420849	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000512796	Transcript	.	.	ENSG00000177453	28646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.42)	.	NIM1_HUMAN	NIM1K	HGNC	.	.	UPI0000035B5F	SNV	NIM1K,missense_variant,p.Pro409Thr,ENST00000512796,;NIM1K,missense_variant,p.Pro409Thr,ENST00000326035,;	2724	48	49	SUCCESS
MTX3	345778	.	GRCh37	5	79285983	79285983	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	60	362	0	ENST00000512528.1:c.228G>A		p.X76_splice	ENST00000512528		76	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS54872.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCTGTTT	NONE	.	.	hmmpanther:PTHR12289:SF30,hmmpanther:PTHR12289	.	.	ENSP00000423600	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000512560	Transcript	.	.	ENSG00000177034	24812	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTX3_HUMAN	MTX3	HGNC	.	.	UPI0001BDAB0C	SNV	MTX3,synonymous_variant,p.%3D,ENST00000512528,;MTX3,synonymous_variant,p.%3D,ENST00000512560,;MTX3,synonymous_variant,p.%3D,ENST00000509852,;THBS4,upstream_gene_variant,,ENST00000510218,;THBS4,upstream_gene_variant,,ENST00000513310,;	165	362	275	SUCCESS
HIST1H2BM	0	.	GRCh37	6	27782903	27782903	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	109	0	ENST00000359465.4:c.82A>T	p.Lys28Ter	p.K28*	ENST00000359465	NM_003521.2	28	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4629.1	82	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAAGAAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF47113,SMART_domains:SM00427,Gene3D:1.10.20.10,hmmpanther:PTHR23428	.	.	ENSP00000352442	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359465	Transcript	.	.	ENSG00000196374	4750	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B1M_HUMAN	HIST1H2BM	HGNC	I6L9F7_HUMAN	.	UPI0000001BD7	SNV	HIST1H2BM,stop_gained,p.Lys28Ter,ENST00000359465,;HIST1H2AJ,upstream_gene_variant,,ENST00000333151,;HIST1H3H,downstream_gene_variant,,ENST00000369163,;	82	109	83	SUCCESS
SLC44A4	80736	.	GRCh37	6	31846775	31846775	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	39	0	ENST00000229729.6:c.-18C>G		p.*6*	ENST00000229729	NM_025257.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4724.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGATTGG	NONE	.	.	.	.	.	ENSP00000229729	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,5_prime_UTR_variant,,ENST00000229729,;SLC44A4,5_prime_UTR_variant,,ENST00000375562,;EHMT2,downstream_gene_variant,,ENST00000436026,;EHMT2,downstream_gene_variant,,ENST00000375528,;EHMT2,downstream_gene_variant,,ENST00000395728,;EHMT2,downstream_gene_variant,,ENST00000375530,;EHMT2,downstream_gene_variant,,ENST00000375537,;SLC44A4,upstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000544672,;EHMT2-AS1,upstream_gene_variant,,ENST00000434689,;EHMT2,downstream_gene_variant,,ENST00000480912,;SLC44A4,upstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000462671,;EHMT2,downstream_gene_variant,,ENST00000478491,;EHMT2,downstream_gene_variant,,ENST00000461880,;EHMT2,downstream_gene_variant,,ENST00000494816,;	4	39	33	SUCCESS
DAAM2	23500	.	GRCh37	6	39867896	39867896	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	52	0	ENST00000274867.4:c.2723A>C	p.Lys908Thr	p.K908T	ENST00000274867	NM_001201427.1	908	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS56426.1	2723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAAGTTTG	NONE	.	.	Superfamily_domains:SSF101447,SMART_domains:SM00498,Pfam_domain:PF02181,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,PROSITE_profiles:PS51444	.	.	ENSP00000381876	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000398904	Transcript	.	.	ENSG00000146122	18143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious(0.03)	.	DAAM2_HUMAN	DAAM2	HGNC	.	.	UPI000020DC88	SNV	DAAM2,missense_variant,p.Lys907Thr,ENST00000538976,;DAAM2,missense_variant,p.Lys908Thr,ENST00000274867,;DAAM2,missense_variant,p.Lys908Thr,ENST00000398904,;MOCS1,downstream_gene_variant,,ENST00000373188,;MOCS1,downstream_gene_variant,,ENST00000373175,;MOCS1,downstream_gene_variant,,ENST00000308559,;MOCS1,downstream_gene_variant,,ENST00000373186,;RP11-61I13.3,upstream_gene_variant,,ENST00000606829,;RP11-61I13.3,upstream_gene_variant,,ENST00000430595,;RP11-61I13.3,upstream_gene_variant,,ENST00000420293,;RP11-61I13.3,upstream_gene_variant,,ENST00000437947,;MOCS1,intron_variant,,ENST00000373181,;	2905	52	46	SUCCESS
GPR110	0	.	GRCh37	6	46982578	46982578	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs773657909	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	60	0	ENST00000371253.2:c.766C>A	p.Gln256Lys	p.Q256K	ENST00000371253	NM_153840.2	256	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34471.1	766	RADIA|MUTECT|MUSE	.	ACACTGGGCTG	NONE	byFrequency	.	PROSITE_profiles:PS50024,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Prints_domain:PR01695	.	.	ENSP00000360299	.	9/15	.	.	.	.	.	.	.	.	rs773657909	9/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.055)	.	tolerated(0.2)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Gln59Lys,ENST00000283297,;GPR110,missense_variant,p.Gln256Lys,ENST00000371253,;GPR110,splice_region_variant,,ENST00000449332,;GPR110,missense_variant,p.Pro159Gln,ENST00000475745,;GPR110,splice_region_variant,,ENST00000419892,;GPR110,splice_region_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000487323,;GPR110,downstream_gene_variant,,ENST00000493249,;	982	60	50	SUCCESS
GPR110	0	.	GRCh37	6	46982580	46982580	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	61	0	ENST00000371253.2:c.764C>G	p.Ala255Gly	p.A255G	ENST00000371253	NM_153840.2	255	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS34471.1	764	MUTECT|MUSE	.	ACTGGGCTGGA	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Prints_domain:PR01695	.	.	ENSP00000360299	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.059)	.	deleterious(0)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Ala58Gly,ENST00000283297,;GPR110,missense_variant,p.Ala255Gly,ENST00000371253,;GPR110,splice_region_variant,,ENST00000449332,;GPR110,synonymous_variant,p.%3D,ENST00000475745,;GPR110,splice_region_variant,,ENST00000419892,;GPR110,splice_region_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000487323,;GPR110,downstream_gene_variant,,ENST00000493249,;	980	61	48	SUCCESS
PIK3CG	5294	.	GRCh37	7	106509974	106509974	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	85	0	ENST00000359195.3:c.1968T>C	p.Val656=	p.V656=	ENST00000359195	NM_002649.2	656	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS5739.1	1968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTCTGCA	NONE	.	.	PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	.	.	ENSP00000352121	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000359195	Transcript	.	.	ENSG00000105851	8978	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK3CG_HUMAN	PIK3CG	HGNC	Q24M88_HUMAN,E9PDN7_HUMAN	.	UPI00000746B8	SNV	PIK3CG,synonymous_variant,p.%3D,ENST00000496166,;PIK3CG,synonymous_variant,p.%3D,ENST00000359195,;PIK3CG,synonymous_variant,p.%3D,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	2278	85	75	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121651010	121651010	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	32	125	0	ENST00000393386.2:c.1910C>A	p.Ser637Ter	p.S637*	ENST00000393386	NM_001206838.1	637	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS34740.1	1910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCAGGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,stop_gained,p.Ser637Ter,ENST00000449182,;PTPRZ1,stop_gained,p.Ser637Ter,ENST00000393386,;PTPRZ1,upstream_gene_variant,,ENST00000483028,;	2321	125	98	SUCCESS
MGAM	8972	.	GRCh37	7	141762461	141762461	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	73	275	0	ENST00000549489.2:c.4216C>T	p.Gln1406Ter	p.Q1406*	ENST00000549489	NM_004668.2	1406	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47727.1	4216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACAGAAT	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055	.	.	ENSP00000447378	.	35/48	.	.	.	.	.	.	.	.	.	35/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,stop_gained,p.Gln1406Ter,ENST00000475668,;MGAM,stop_gained,p.Gln1406Ter,ENST00000549489,;	4311	275	243	SUCCESS
SMARCD3	6604	.	GRCh37	7	150945687	150945687	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	123	0	ENST00000262188.8:c.-39G>A		p.*13*	ENST00000262188	NM_001003801.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34780.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTCTCTTCCT	NONE	.	.	.	.	.	ENSP00000262188	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000262188	Transcript	.	.	ENSG00000082014	11108	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMRD3_HUMAN	SMARCD3	HGNC	.	.	UPI000022D4B4	SNV	SMARCD3,5_prime_UTR_variant,,ENST00000262188,;SMARCD3,intron_variant,,ENST00000491651,;SMARCD3,intron_variant,,ENST00000392811,;SMARCD3,intron_variant,,ENST00000356800,;RP5-1070G24.2,upstream_gene_variant,,ENST00000466775,;SMARCD3,intron_variant,,ENST00000477169,;SMARCD3,upstream_gene_variant,,ENST00000460431,;SMARCD3,non_coding_transcript_exon_variant,,ENST00000472988,;SMARCD3,non_coding_transcript_exon_variant,,ENST00000485610,;SMARCD3,intron_variant,,ENST00000469154,;SMARCD3,upstream_gene_variant,,ENST00000472103,;SMARCD3,upstream_gene_variant,,ENST00000485592,;	373	123	101	SUCCESS
WDR60	0	.	GRCh37	7	158715163	158715163	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	82	1	ENST00000407559.3:c.2017G>C	p.Asp673His	p.D673H	ENST00000407559	NM_018051.4	673	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS47757.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGACAGC	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000384290	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,missense_variant,p.Asp673His,ENST00000407559,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;WDR60,intron_variant,,ENST00000444851,;	2175	83	88	SUCCESS
TMEM196	256130	.	GRCh37	7	19812310	19812310	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	68	0	ENST00000405764.3:c.10A>G	p.Ser4Gly	p.S4G	ENST00000405764	NM_152774.3	4	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS34607.2	10	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCTGGTGC	NONE	.	.	.	.	.	ENSP00000384234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000405764	Transcript	.	.	ENSG00000173452	22431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	deleterious_low_confidence(0)	.	TM196_HUMAN	TMEM196	HGNC	.	.	UPI00005A9078	SNV	TMEM196,missense_variant,p.Ser4Gly,ENST00000405764,;TMEM196,missense_variant,p.Ser4Gly,ENST00000405844,;TMEM196,intron_variant,,ENST00000422233,;TMEM196,intron_variant,,ENST00000493519,;TMEM196,intron_variant,,ENST00000433641,;	707	68	58	SUCCESS
SP8	221833	.	GRCh37	7	20824970	20824970	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1562606871	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	65	0	ENST00000361443.4:c.412G>A	p.Gly138Ser	p.G138S	ENST00000361443	NM_198956.2	138	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS43555.1	466	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134	.	.	ENSP00000408792	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000418710	Transcript	.	.	ENSG00000164651	19196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.76)	.	SP8_HUMAN	SP8	HGNC	.	.	UPI00001AADF2	SNV	SP8,missense_variant,p.Gly156Ser,ENST00000418710,;SP8,missense_variant,p.Gly138Ser,ENST00000361443,;	554	65	46	SUCCESS
PPP1R17	10842	.	GRCh37	7	31735086	31735086	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	54	0	ENST00000342032.3:c.86A>G	p.Asp29Gly	p.D29G	ENST00000342032	NM_006658.4	29	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5436.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGATCTTT	NONE	.	.	hmmpanther:PTHR15387:SF0,hmmpanther:PTHR15387	.	.	ENSP00000340125	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000342032	Transcript	.	.	ENSG00000106341	16973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	.	deleterious_low_confidence(0.01)	.	PPR17_HUMAN	PPP1R17	HGNC	.	.	UPI000006D182	SNV	PPP1R17,missense_variant,p.Asp29Gly,ENST00000342032,;PPP1R17,intron_variant,,ENST00000409146,;PPP1R17,upstream_gene_variant,,ENST00000498609,;	714	54	76	SUCCESS
CDK13	8621	.	GRCh37	7	40102432	40102432	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	91	0	ENST00000181839.4:c.2608T>A	p.Tyr870Asn	p.Y870N	ENST00000181839	NM_031267.3	870	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS5461.1	2608	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGTATACT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF125,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000181839	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000181839	Transcript	.	.	ENSG00000065883	1733	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	CDK13_HUMAN	CDK13	HGNC	.	.	UPI000013C5E3	SNV	CDK13,missense_variant,p.Tyr870Asn,ENST00000340829,;CDK13,missense_variant,p.Tyr870Asn,ENST00000181839,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;	3213	91	46	SUCCESS
COA1	55744	.	GRCh37	7	43684913	43684913	+	synonymous_variant	Silent	SNP	A	A	G	rs564919110	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	76	0	ENST00000223336.6:c.201T>C	p.Pro67=	p.P67=	ENST00000223336	NM_018224.3	67	ccT/ccC	0	.	G:0	.	G:0	.	G	P	protein_coding	YES	CCDS5471.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGAGGAGG	NONE	by1000G	.	Pfam_domain:PF08695	G:0	.	ENSP00000379218	G:0	3/5	.	.	.	.	.	.	.	.	rs564919110	3/5	PASS	ENST00000395879	Transcript	.	G:0.0002	ENSG00000106603	21868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	COA1_HUMAN	COA1	HGNC	C9JA07_HUMAN,C9J6J1_HUMAN	.	UPI000006E8D7	SNV	COA1,synonymous_variant,p.%3D,ENST00000395879,;COA1,synonymous_variant,p.%3D,ENST00000310564,;COA1,synonymous_variant,p.%3D,ENST00000223336,;COA1,synonymous_variant,p.%3D,ENST00000415798,;COA1,synonymous_variant,p.%3D,ENST00000395880,;COA1,synonymous_variant,p.%3D,ENST00000431651,;COA1,downstream_gene_variant,,ENST00000470156,;COA1,upstream_gene_variant,,ENST00000488813,;COA1,downstream_gene_variant,,ENST00000459713,;COA1,synonymous_variant,p.%3D,ENST00000446564,;COA1,synonymous_variant,p.%3D,ENST00000446330,;COA1,synonymous_variant,p.%3D,ENST00000438444,;COA1,synonymous_variant,p.%3D,ENST00000415076,;COA1,non_coding_transcript_exon_variant,,ENST00000490251,;COA1,downstream_gene_variant,,ENST00000418140,;COA1,downstream_gene_variant,,ENST00000448704,;COA1,downstream_gene_variant,,ENST00000457939,;COA1,downstream_gene_variant,,ENST00000420441,;COA1,downstream_gene_variant,,ENST00000451651,;	1883	76	73	SUCCESS
TNS3	64759	.	GRCh37	7	47476876	47476876	+	synonymous_variant	Silent	SNP	C	C	T	rs376868413	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	63	219	0	ENST00000311160.9:c.186G>A	p.Thr62=	p.T62=	ENST00000311160	NM_022748.11	62	acG/acA	0	T:0.0003	.	.	.	.	T	T	protein_coding	YES	CCDS5506.2	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTCGTAAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305,PROSITE_profiles:PS51181	.	T:0	ENSP00000381854	.	7/31	.	.	.	.	.	.	.	.	rs376868413	7/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,synonymous_variant,p.%3D,ENST00000398879,;TNS3,synonymous_variant,p.%3D,ENST00000413551,;TNS3,synonymous_variant,p.%3D,ENST00000458317,;TNS3,synonymous_variant,p.%3D,ENST00000457718,;TNS3,synonymous_variant,p.%3D,ENST00000355730,;TNS3,synonymous_variant,p.%3D,ENST00000415929,;TNS3,synonymous_variant,p.%3D,ENST00000442536,;TNS3,synonymous_variant,p.%3D,ENST00000311160,;TNS3,synonymous_variant,p.%3D,ENST00000450444,;TNS3,downstream_gene_variant,,ENST00000434451,;	553	219	193	SUCCESS
ABCA13	154664	.	GRCh37	7	48327638	48327638	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	60	0	ENST00000435803.1:c.8918C>T	p.Ala2973Val	p.A2973V	ENST00000435803	NM_152701.3	2973	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47584.1	8918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCTATAC	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	20/62	.	.	.	.	.	.	.	.	.	20/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Ala2973Val,ENST00000435803,;	8942	60	64	SUCCESS
EGFR	1956	.	GRCh37	7	55224558	55224558	+	intron_variant	Intron	SNP	G	G	T	rs765945520	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	91	0	ENST00000275493.2:c.1207+33G>T		p.*403*	ENST00000275493	NM_005228.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5514.1	.	MUTECT|MUSE	.	AAATGGGAAAT	NONE	byFrequency	.	.	.	.	ENSP00000275493	.	.	.	.	.	.	.	.	.	.	rs765945520	.	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	MODIFIER	10/27	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,3_prime_UTR_variant,,ENST00000420316,;EGFR,intron_variant,,ENST00000454757,;EGFR,intron_variant,,ENST00000344576,;EGFR,intron_variant,,ENST00000342916,;EGFR,intron_variant,,ENST00000275493,;EGFR,intron_variant,,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;	.	91	89	SUCCESS
GTF2IRD2B	389524	.	GRCh37	7	74565257	74565257	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	36	0	ENST00000472837.1:n.2692G>A		p.*898*	ENST00000472837				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34659.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTCGGCTTAC	NONE	.	.	.	.	.	ENSP00000308080	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000312575	Transcript	.	.	ENSG00000174428	33125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GTD2B_HUMAN	GTF2IRD2B	HGNC	Q86Y00_HUMAN,G8JLN0_HUMAN	.	UPI0000251DF5	SNV	GTF2IRD2B,3_prime_UTR_variant,,ENST00000312575,;GTF2IRD2B,3_prime_UTR_variant,,ENST00000418185,;GTF2IRD2B,downstream_gene_variant,,ENST00000430511,;GTF2IRD2B,downstream_gene_variant,,ENST00000356115,;GTF2IRD2B,3_prime_UTR_variant,,ENST00000423666,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000472837,;	3179	36	24	SUCCESS
CACNA2D1	781	.	GRCh37	7	81591327	81591327	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	76	0	ENST00000356253.5:c.2885A>G	p.Asp962Gly	p.D962G	ENST00000356253		962	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5598.1	2849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATCCTCC	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	36/39	.	.	.	.	.	.	.	.	.	36/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.583)	.	tolerated(0.37)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Asp962Gly,ENST00000356253,;CACNA2D1,missense_variant,p.Asp950Gly,ENST00000356860,;CACNA2D1,missense_variant,p.Asp162Gly,ENST00000535308,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;	3188	76	54	SUCCESS
CACNA2D1	781	.	GRCh37	7	82072857	82072857	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	50	0	ENST00000356253.5:c.-82T>C		p.*28*	ENST00000356253				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5598.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGAGCAGCACA	NONE	.	.	.	.	.	ENSP00000349320	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,5_prime_UTR_variant,,ENST00000356253,;CACNA2D1,5_prime_UTR_variant,,ENST00000356860,;CACNA2D1,5_prime_UTR_variant,,ENST00000423588,;	258	50	46	SUCCESS
PCLO	27445	.	GRCh37	7	82585807	82585807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	49	0	ENST00000333891.9:c.4462C>T	p.Pro1488Ser	p.P1488S	ENST00000333891	NM_033026.5	1488	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47630.1	4462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGAATAT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro1488Ser,ENST00000333891,;PCLO,missense_variant,p.Pro1488Ser,ENST00000423517,;	4800	49	48	SUCCESS
TSNARE1	203062	.	GRCh37	8	143427217	143427217	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs750524448	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	25	39	0	ENST00000524325.1:c.125A>G	p.His42Arg	p.H42R	ENST00000524325		42	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS6384.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATGGCGG	NONE	.	.	.	.	.	ENSP00000303437	.	3/14	.	.	.	.	.	.	.	.	rs750524448	3/14	PASS	ENST00000307180	Transcript	.	.	ENSG00000171045	26437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.723)	.	deleterious_low_confidence(0)	.	TSNA1_HUMAN	TSNARE1	HGNC	E5RHW3_HUMAN,A0AVG3_HUMAN	.	UPI00001AEE5E	SNV	TSNARE1,missense_variant,p.His42Arg,ENST00000524325,;TSNARE1,missense_variant,p.His42Arg,ENST00000520462,;TSNARE1,missense_variant,p.His42Arg,ENST00000307180,;TSNARE1,missense_variant,p.His42Arg,ENST00000520166,;TSNARE1,missense_variant,p.His58Arg,ENST00000518720,;TSNARE1,intron_variant,,ENST00000519651,;	243	39	43	SUCCESS
PLEC	5339	.	GRCh37	8	144993679	144993679	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	40	0	ENST00000322810.4:c.10721G>A	p.Arg3574Lys	p.R3574K	ENST00000322810	NM_201380.2	3574	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS43772.1	10721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCTGTAG	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	.	.	ENSP00000323856	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Arg3574Lys,ENST00000322810,;PLEC,missense_variant,p.Arg3460Lys,ENST00000527096,;PLEC,missense_variant,p.Arg3437Lys,ENST00000345136,;PLEC,missense_variant,p.Arg3441Lys,ENST00000357649,;PLEC,missense_variant,p.Arg3405Lys,ENST00000398774,;PLEC,missense_variant,p.Arg3437Lys,ENST00000354589,;PLEC,missense_variant,p.Arg3423Lys,ENST00000356346,;PLEC,missense_variant,p.Arg3464Lys,ENST00000436759,;PLEC,missense_variant,p.Arg3415Lys,ENST00000354958,;PLEC,downstream_gene_variant,,ENST00000527303,;	10891	40	61	SUCCESS
CPSF1	29894	.	GRCh37	8	145619689	145619689	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	67	88	0	ENST00000349769.3:c.3649A>G	p.Ser1217Gly	p.S1217G	ENST00000349769	NM_013291.2	1217	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS34966.1	3649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCTGATCA	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2,Pfam_domain:PF03178	.	.	ENSP00000339353	.	32/38	.	.	.	.	.	.	.	.	.	32/38	PASS	ENST00000349769	Transcript	.	.	ENSG00000071894	2324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.534)	.	deleterious(0)	.	CPSF1_HUMAN	CPSF1	HGNC	Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN	.	UPI00001282EE	SNV	CPSF1,missense_variant,p.Ser1217Gly,ENST00000349769,;ADCK5,downstream_gene_variant,,ENST00000532190,;ADCK5,downstream_gene_variant,,ENST00000308860,;MIR939,upstream_gene_variant,,ENST00000401314,;CPSF1,non_coding_transcript_exon_variant,,ENST00000532935,;CPSF1,upstream_gene_variant,,ENST00000531727,;ADCK5,downstream_gene_variant,,ENST00000534714,;ADCK5,downstream_gene_variant,,ENST00000526231,;CPSF1,non_coding_transcript_exon_variant,,ENST00000526271,;CPSF1,downstream_gene_variant,,ENST00000533492,;ADCK5,downstream_gene_variant,,ENST00000529654,;CPSF1,upstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000527827,;ADCK5,downstream_gene_variant,,ENST00000526833,;ADCK5,downstream_gene_variant,,ENST00000533715,;CPSF1,upstream_gene_variant,,ENST00000532725,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000527916,;	3744	88	134	SUCCESS
CALB1	793	.	GRCh37	8	91094273	91094273	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs767520923	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	56	0	ENST00000265431.3:c.137C>A	p.Ala46Glu	p.A46E	ENST00000265431	NM_004929.2	46	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS6251.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGCGCCTGC	BUFFER|p.R47Q|c.140G>A|3	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50222,hmmpanther:PTHR19972,hmmpanther:PTHR19972:SF3,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000265431	.	2/11	.	.	.	.	.	.	.	.	rs767520923	2/11	PASS	ENST00000265431	Transcript	.	.	ENSG00000104327	1434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.693)	.	tolerated(0.07)	.	CALB1_HUMAN	CALB1	HGNC	O75552_HUMAN,E5RIZ8_HUMAN,E5RG14_HUMAN,B7Z9J4_HUMAN	.	UPI000013D620	SNV	CALB1,missense_variant,p.Ala46Glu,ENST00000265431,;CALB1,5_prime_UTR_variant,,ENST00000514406,;CALB1,5_prime_UTR_variant,,ENST00000520613,;CALB1,5_prime_UTR_variant,,ENST00000523716,;CALB1,upstream_gene_variant,,ENST00000518457,;CALB1,non_coding_transcript_exon_variant,,ENST00000482702,;CALB1,non_coding_transcript_exon_variant,,ENST00000473670,;CALB1,non_coding_transcript_exon_variant,,ENST00000476853,;	319	56	51	SUCCESS
SVEP1	79987	.	GRCh37	9	113192616	113192616	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764785626	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	83	0	ENST00000374469.1:c.5399G>A	p.Gly1800Glu	p.G1800E	ENST00000374469		1800	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS48004.1	5468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTCCCATC	NONE	byFrequency	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	33/48	.	.	.	.	.	.	.	.	rs764785626	33/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Gly1823Glu,ENST00000401783,;SVEP1,missense_variant,p.Gly1800Glu,ENST00000374469,;SVEP1,upstream_gene_variant,,ENST00000297826,;	5805	83	90	SUCCESS
KIAA0368	0	.	GRCh37	9	114213837	114213837	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	48	0	ENST00000259335.4:c.557-2A>G		p.X186_splice	ENST00000259335	NM_001080398.1	186		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48006.1	.	MUTECT|MUSE	.	TGATCTATAAT	NONE	.	.	.	.	.	ENSP00000259335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	HIGH	3/50	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,splice_acceptor_variant,,ENST00000602978,;KIAA0368,splice_acceptor_variant,,ENST00000338205,;KIAA0368,splice_acceptor_variant,,ENST00000602447,;KIAA0368,splice_acceptor_variant,,ENST00000259335,;	.	48	31	SUCCESS
PTGR1	22949	.	GRCh37	9	114325430	114325430	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	39	0	ENST00000309195.5:c.961A>G	p.Asn321Asp	p.N321D	ENST00000309195	NM_012212.3	321	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS6779.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATTATCTC	NONE	.	.	hmmpanther:PTHR11695:SF5,hmmpanther:PTHR11695,TIGRFAM_domain:TIGR02825,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000385763	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000407693	Transcript	.	.	ENSG00000106853	18429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	PTGR1_HUMAN	PTGR1	HGNC	.	.	UPI000012E24A	SNV	PTGR1,missense_variant,p.Asn321Asp,ENST00000309195,;PTGR1,missense_variant,p.Asn321Asp,ENST00000407693,;PTGR1,intron_variant,,ENST00000538962,;ZNF483,intron_variant,,ENST00000358151,;PTGR1,downstream_gene_variant,,ENST00000238248,;PTGR1,3_prime_UTR_variant,,ENST00000466771,;PTGR1,3_prime_UTR_variant,,ENST00000374324,;	1224	39	31	SUCCESS
RC3H2	54542	.	GRCh37	9	125659766	125659766	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	53	1	ENST00000357244.2:c.23G>A	p.Trp8Ter	p.W8*	ENST00000357244	NM_001100588.1	8	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS43874.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCATTGA	NONE	.	.	hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2,Superfamily_domains:SSF57850	.	.	ENSP00000362774	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000373670	Transcript	.	.	ENSG00000056586	21461	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RC3H2_HUMAN	RC3H2	HGNC	.	.	UPI0000048D91	SNV	RC3H2,stop_gained,p.Trp8Ter,ENST00000423239,;RC3H2,stop_gained,p.Trp8Ter,ENST00000357244,;RC3H2,stop_gained,p.Trp8Ter,ENST00000373670,;RC3H2,stop_gained,p.Trp8Ter,ENST00000471874,;RC3H2,stop_gained,p.Trp8Ter,ENST00000373665,;RC3H2,stop_gained,p.Trp8Ter,ENST00000335387,;RC3H2,intron_variant,,ENST00000478216,;RC3H2,stop_gained,p.Trp8Ter,ENST00000498479,;	624	54	56	SUCCESS
USP20	10868	.	GRCh37	9	132630495	132630495	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759233131	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	105	0	ENST00000315480.4:c.902G>T	p.Gly301Val	p.G301V	ENST00000315480		301	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43892.1	902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGCGGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443	.	.	ENSP00000313811	.	11/25	.	.	.	.	.	.	.	.	rs759233131	11/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.57)	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,missense_variant,p.Gly301Val,ENST00000372429,;USP20,missense_variant,p.Gly301Val,ENST00000358355,;USP20,missense_variant,p.Gly301Val,ENST00000315480,;USP20,upstream_gene_variant,,ENST00000474895,;USP20,upstream_gene_variant,,ENST00000491731,;	1060	105	89	SUCCESS
CDKN2B-AS1	100048912	.	GRCh37	9	22029453	22029453	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	54	0	ENST00000428597.1:n.393A>T		p.*131*	ENST00000428597		123		0	.	.	.	.	.	T	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAAAGGA	NONE	.	.	.	.	.	.	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000428597	Transcript	.	.	ENSG00000240498	34341	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CDKN2B-AS1	HGNC	.	.	.	SNV	CDKN2B-AS1,non_coding_transcript_exon_variant,,ENST00000584351,;CDKN2B-AS1,non_coding_transcript_exon_variant,,ENST00000428597,;CDKN2B-AS1,non_coding_transcript_exon_variant,,ENST00000580576,;CDKN2B-AS1,non_coding_transcript_exon_variant,,ENST00000468603,;CDKN2B-AS1,intron_variant,,ENST00000584020,;CDKN2B-AS1,intron_variant,,ENST00000584816,;CDKN2B-AS1,intron_variant,,ENST00000585267,;CDKN2B-AS1,intron_variant,,ENST00000582301,;CDKN2B-AS1,intron_variant,,ENST00000577551,;CDKN2B-AS1,intron_variant,,ENST00000584637,;CDKN2B-AS1,intron_variant,,ENST00000582072,;CDKN2B-AS1,intron_variant,,ENST00000455933,;CDKN2B-AS1,intron_variant,,ENST00000581051,;CDKN2B-AS1,intron_variant,,ENST00000580467,;CDKN2B-AS1,intron_variant,,ENST00000583719,;RP11-145E5.5,synonymous_variant,p.%3D,ENST00000404796,;	393	54	48	SUCCESS
TEK	7010	.	GRCh37	9	27157869	27157869	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	90	0	ENST00000380036.4:c.93C>T	p.Ser31=	p.S31=	ENST00000380036	NM_000459.3	31	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6519.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCCTACC	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF10430	.	.	ENSP00000369375	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,synonymous_variant,p.%3D,ENST00000406359,;TEK,synonymous_variant,p.%3D,ENST00000380036,;TEK,intron_variant,,ENST00000519097,;TEK,intron_variant,,ENST00000519080,;	535	90	90	SUCCESS
C9orf131	138724	.	GRCh37	9	35045263	35045263	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	63	0	ENST00000312292.5:c.2637G>A	p.Arg879=	p.R879=	ENST00000312292	NM_203299.2	879	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6572.2	2637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGCGGA	NONE	.	.	hmmpanther:PTHR21777	.	.	ENSP00000308279	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312292	Transcript	.	.	ENSG00000174038	31418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI131_HUMAN	C9orf131	HGNC	.	.	UPI00001605AC	SNV	C9orf131,synonymous_variant,p.%3D,ENST00000421362,;C9orf131,synonymous_variant,p.%3D,ENST00000312292,;C9orf131,synonymous_variant,p.%3D,ENST00000354479,;C9orf131,downstream_gene_variant,,ENST00000378745,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000534880,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	2684	63	63	SUCCESS
SPATA31A3	727830	.	GRCh37	9	40705951	40705951	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	55	0	ENST00000356699.5:c.3608G>T	p.Ser1203Ile	p.S1203I	ENST00000356699	NM_001083124.1	1203	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47969.1	3608	RADIA|VARSCANS	.	CAGCAGTGCTG	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000349132	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356699	Transcript	.	.	ENSG00000147926	32003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.975)	.	tolerated(0.21)	.	S31A3_HUMAN	SPATA31A3	HGNC	.	.	UPI00004588FC	SNV	SPATA31A3,missense_variant,p.Ser1203Ile,ENST00000356699,;RP11-395E19.5,intron_variant,,ENST00000432614,;SPATA31A3,downstream_gene_variant,,ENST00000463536,;	3637	55	60	SUCCESS
ANKRD20A1	84210	.	GRCh37	9	67968395	67968395	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1264330150	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	259	50	418	0	ENST00000377477.2:c.1954A>G	p.Lys652Glu	p.K652E	ENST00000377477	NM_032250.3	652	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6620.1	1954	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAAAGTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915	.	.	ENSP00000366697	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000377477	Transcript	.	.	ENSG00000196774	23665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.28)	.	A20A1_HUMAN	ANKRD20A1	HGNC	.	.	UPI0000457755	SNV	ANKRD20A1,missense_variant,p.Lys652Glu,ENST00000377477,;RP11-195B21.3,upstream_gene_variant,,ENST00000417488,;	2066	418	309	SUCCESS
PRUNE2	158471	.	GRCh37	9	79441528	79441528	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs142632107	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	43	0	ENST00000376718.3:c.629A>G	p.Asn210Ser	p.N210S	ENST00000376718	NM_015225.2	210	aAc/aGc	0	C:0.0002	.	.	.	.	C	N/S	protein_coding	YES	CCDS47982.1	629	RADIA|MUTECT|MUSE|VARSCANS	.	GGACGTTGATG	NONE	byCluster	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Superfamily_domains:SSF64182	.	C:0	ENSP00000365908	.	5/19	.	.	.	.	.	.	.	.	rs142632107,COSM1169169,COSM1169168	5/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.01)	.	tolerated(1)	0,1,1	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Asn210Ser,ENST00000376713,;PRUNE2,missense_variant,p.Asn210Ser,ENST00000376718,;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000492157,;	753	43	38	SUCCESS
VAMP7	6845	.	GRCh37	X	155169406	155169406	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	81	241	1	ENST00000286448.6:c.543C>A	p.Ala181=	p.A181=	ENST00000286448	NM_005638.5	181	gcC/gcA	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS55548.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCCATGTG	NONE	.	.	.	.	.	ENSP00000262640	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000262640	Transcript	.	.	ENSG00000124333	11486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.04)	.	VAMP7_HUMAN	VAMP7	HGNC	.	.	UPI000006F699	SNV	VAMP7,missense_variant,p.His159Asn,ENST00000262640,;VAMP7,synonymous_variant,p.%3D,ENST00000460621,;VAMP7,synonymous_variant,p.%3D,ENST00000286448,;VAMP7,non_coding_transcript_exon_variant,,ENST00000479687,;VAMP7,non_coding_transcript_exon_variant,,ENST00000463317,;VAMP7,3_prime_UTR_variant,,ENST00000488344,;	558	242	287	SUCCESS
ZNF182	7569	.	GRCh37	X	47842435	47842435	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	29	0	ENST00000305127.6:c.203A>G	p.Gln68Arg	p.Q68R	ENST00000305127	NM_006962.1	68	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS35236.1	203	MUTECT|MUSE	.	CCTGCTGCCCT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF218,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000380165	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000396965	Transcript	.	.	ENSG00000147118	13001	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious(0.01)	.	ZN182_HUMAN	ZNF182	HGNC	.	.	UPI0000211F7D	SNV	ZNF182,missense_variant,p.Gln49Arg,ENST00000376943,;ZNF182,missense_variant,p.Gln68Arg,ENST00000305127,;ZNF182,missense_variant,p.Gln68Arg,ENST00000396965,;ZNF81,intron_variant,,ENST00000376950,;ZNF630,downstream_gene_variant,,ENST00000428463,;	554	29	27	SUCCESS
NHSL2	340527	.	GRCh37	X	71358362	71358362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	71	0	ENST00000510661.1:c.271C>A	p.Pro91Thr	p.P91T	ENST00000510661		91	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCCAGAA	NONE	.	.	hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2	.	.	ENSP00000444617	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000540800	Transcript	.	.	ENSG00000204131	33737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.01)	.	.	NHSL2	HGNC	F5H593_HUMAN	.	UPI0001B09231	SNV	NHSL2,missense_variant,p.Pro322Thr,ENST00000540800,;NHSL2,missense_variant,p.Pro91Thr,ENST00000510661,;NHSL2,5_prime_UTR_variant,,ENST00000373677,;NHSL2,5_prime_UTR_variant,,ENST00000535692,;RP11-262D11.1,downstream_gene_variant,,ENST00000513469,;	964	71	65	SUCCESS
HMGN5	79366	.	GRCh37	X	80377157	80377157	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	43	101	0	ENST00000358130.2:c.-109C>G		p.*37*	ENST00000358130	NM_030763.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14448.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCACGACCTG	NONE	.	.	.	.	.	ENSP00000350848	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000358130	Transcript	.	.	ENSG00000198157	8013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMGN5_HUMAN	HMGN5	HGNC	Q5JSL0_HUMAN,Q5JSK8_HUMAN,Q5JSK7_HUMAN	.	UPI0000130542	SNV	HMGN5,5_prime_UTR_variant,,ENST00000358130,;HMGN5,5_prime_UTR_variant,,ENST00000451455,;HMGN5,5_prime_UTR_variant,,ENST00000436386,;HMGN5,5_prime_UTR_variant,,ENST00000430960,;HMGN5,5_prime_UTR_variant,,ENST00000447319,;HMGN5,upstream_gene_variant,,ENST00000373250,;HMGN5,non_coding_transcript_exon_variant,,ENST00000491275,;	221	102	88	SUCCESS
INPP5A	3632	.	GRCh37	10	134595384	134595384	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374027590	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	129	0	ENST00000368594.3:c.1178G>A	p.Arg393Gln	p.R393Q	ENST00000368594	NM_005539.3	393	cGa/cAa	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS7669.2	1178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGAATCA	NONE	.	.	Superfamily_domains:SSF56219,SMART_domains:SM00128,Gene3D:3.60.10.10,hmmpanther:PTHR12997,hmmpanther:PTHR12997:SF7	.	A:0	ENSP00000357583	.	15/16	.	.	.	.	.	.	.	.	rs374027590,COSM1346882,COSM4012822	15/16	PASS	ENST00000368594	Transcript	.	.	ENSG00000068383	6076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.602)	.	tolerated(0.11)	0,1,1	I5P1_HUMAN	INPP5A	HGNC	Q4VAR4_HUMAN,Q149S6_HUMAN	.	UPI000012D085	SNV	INPP5A,missense_variant,p.Arg393Gln,ENST00000368594,;INPP5A,missense_variant,p.Arg75Gln,ENST00000445580,;INPP5A,downstream_gene_variant,,ENST00000342652,;INPP5A,downstream_gene_variant,,ENST00000368593,;NKX6-2,downstream_gene_variant,,ENST00000368592,;RP11-288G11.3,downstream_gene_variant,,ENST00000441365,;	1455	129	100	SUCCESS
NRG3	10718	.	GRCh37	10	84118543	84118543	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768371489	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	45	150	0	ENST00000404547.1:c.872G>T	p.Arg291Leu	p.R291L	ENST00000404547		291	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS31233.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGAGACA	NONE	.	.	Superfamily_domains:SSF57196,Gene3D:2.10.25.10,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18,PROSITE_profiles:PS50026	.	.	ENSP00000361214	.	2/9	.	.	.	.	.	.	.	.	rs768371489	2/9	PASS	ENST00000372141	Transcript	.	.	ENSG00000185737	7999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.13)	.	NRG3_HUMAN	NRG3	HGNC	D9ZHQ8_HUMAN	.	UPI00003D64C0	SNV	NRG3,missense_variant,p.Arg95Leu,ENST00000404576,;NRG3,missense_variant,p.Arg291Leu,ENST00000404547,;NRG3,missense_variant,p.Arg121Leu,ENST00000556918,;NRG3,missense_variant,p.Arg70Leu,ENST00000372142,;NRG3,missense_variant,p.Arg291Leu,ENST00000372141,;NRG3,stop_gained,p.Glu62Ter,ENST00000555784,;NRG3,3_prime_UTR_variant,,ENST00000602794,;	899	150	150	SUCCESS
MUC5B	727897	.	GRCh37	11	1262639	1262639	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	48	136	0	ENST00000529681.1:c.4529C>A	p.Thr1510Lys	p.T1510K	ENST00000529681	NM_002458.2	1510	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS44515.2	4529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACAGAGT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Thr1510Lys,ENST00000529681,;MUC5B,missense_variant,p.Thr1513Lys,ENST00000447027,;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	4587	136	135	SUCCESS
KIRREL3	84623	.	GRCh37	11	126316746	126316746	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	54	0	ENST00000525144.2:c.1033C>T	p.Leu345Phe	p.L345F	ENST00000525144	NM_032531.3	345	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS53723.1	1033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGAGCAAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF49,hmmpanther:PTHR11640,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000435466	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000525144	Transcript	.	.	ENSG00000149571	23204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	tolerated(0.35)	.	KIRR3_HUMAN	KIRREL3	HGNC	B4DT91_HUMAN	.	UPI00000740A0	SNV	KIRREL3,missense_variant,p.Leu345Phe,ENST00000529097,;KIRREL3,missense_variant,p.Leu345Phe,ENST00000525144,;KIRREL3,missense_variant,p.Leu345Phe,ENST00000525704,;	1283	54	87	SUCCESS
VWCE	220001	.	GRCh37	11	61032665	61032665	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781381210	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	90	307	0	ENST00000335613.5:c.1985C>T	p.Ser662Phe	p.S662F	ENST00000335613	NM_152718.2	662	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS8002.1	1985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGAACAG	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF250,PROSITE_patterns:PS01208,Gene3D:2.10.70.10,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000334186	.	17/20	.	.	.	.	.	.	.	.	rs781381210	17/20	PASS	ENST00000335613	Transcript	.	.	ENSG00000167992	26487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	VWCE_HUMAN	VWCE	HGNC	B4DY31_HUMAN	.	UPI000013E751	SNV	VWCE,missense_variant,p.Ser662Phe,ENST00000335613,;VWCE,missense_variant,p.Ser127Phe,ENST00000535710,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,non_coding_transcript_exon_variant,,ENST00000538438,;	2372	307	311	SUCCESS
DAGLA	747	.	GRCh37	11	61511843	61511843	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774144925	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	149	0	ENST00000257215.5:c.3011C>A	p.Thr1004Lys	p.T1004K	ENST00000257215	NM_006133.2	1004	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31578.1	3011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACGCCCA	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000257215	.	20/20	.	.	.	.	.	.	.	.	rs774144925	20/20	PASS	ENST00000257215	Transcript	.	.	ENSG00000134780	1165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious_low_confidence(0)	.	DGLA_HUMAN	DAGLA	HGNC	.	.	UPI00001678B3	SNV	DAGLA,missense_variant,p.Thr1004Lys,ENST00000257215,;RP11-467L20.10,downstream_gene_variant,,ENST00000541891,;RP11-467L20.10,downstream_gene_variant,,ENST00000536405,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	3127	149	124	SUCCESS
DCHS1	8642	.	GRCh37	11	6643664	6643664	+	synonymous_variant	Silent	SNP	G	G	A	rs147679452	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	85	0	ENST00000299441.3:c.9243C>T	p.Cys3081=	p.C3081=	ENST00000299441	NM_003737.2	3081	tgC/tgT	0	A:0.0032	A:0.0038	.	A:0	.	A	C	protein_coding	YES	CCDS7771.1	9243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGCAGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	A:0	A:0.0004	ENSP00000299441	A:0	21/21	.	.	.	.	.	.	.	.	rs147679452	21/21	PASS	ENST00000299441	Transcript	.	A:0.0010	ENSG00000166341	13681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,synonymous_variant,p.%3D,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	9655	85	88	SUCCESS
DCHS1	8642	.	GRCh37	11	6662342	6662342	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs184561385	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	66	0	ENST00000299441.3:c.503G>A	p.Arg168His	p.R168H	ENST00000299441	NM_003737.2	168	cGt/cAt	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS7771.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACGAGCA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	T:0.002	.	ENSP00000299441	T:0	2/21	.	.	.	.	.	.	.	.	rs184561385	2/21	PASS	ENST00000299441	Transcript	.	T:0.0004	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	T:0	tolerated(0.56)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Arg168His,ENST00000299441,;	915	66	65	SUCCESS
NLRP14	338323	.	GRCh37	11	7064609	7064609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	49	131	0	ENST00000299481.4:c.1352G>T	p.Gly451Val	p.G451V	ENST00000299481	NM_176822.3	451	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7776.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGGTTAA	NONE	.	.	hmmpanther:PTHR24106:SF82,hmmpanther:PTHR24106	.	.	ENSP00000299481	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000299481	Transcript	.	.	ENSG00000158077	22939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	deleterious(0.01)	.	NAL14_HUMAN	NLRP14	HGNC	.	.	UPI0000167F6E	SNV	NLRP14,missense_variant,p.Gly451Val,ENST00000299481,;	1698	131	124	SUCCESS
SLC25A22	79751	.	GRCh37	11	794852	794852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	125	0	ENST00000320230.5:c.70A>T	p.Thr24Ser	p.T24S	ENST00000320230	NM_024698.5	24	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7715.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGTGACAC	NONE	.	.	Prints_domain:PR00926,Prints_domain:PR00926,Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089:SF219,hmmpanther:PTHR24089,PROSITE_profiles:PS50920,Transmembrane_helices:TMhelix	.	.	ENSP00000322020	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000320230	Transcript	.	.	ENSG00000177542	19954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.29)	.	GHC1_HUMAN	SLC25A22	HGNC	K4DIB8_HUMAN,K4DIB6_HUMAN,K4DIB4_HUMAN,K4DIB3_HUMAN,K4DIB2_HUMAN,K4DIB0_HUMAN,K4DIA8_HUMAN,K4DIA2_HUMAN,E9PQ36_HUMAN,E9PI74_HUMAN	.	UPI0000073CD3	SNV	SLC25A22,missense_variant,p.Thr24Ser,ENST00000526152,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000533385,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000531214,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000527723,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000528936,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000320230,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000529066,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000530360,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000531437,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000481290,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000528606,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000531534,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000532484,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000531514,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000456706,;PIDD,downstream_gene_variant,,ENST00000347755,;CEND1,upstream_gene_variant,,ENST00000330106,;PIDD,downstream_gene_variant,,ENST00000411829,;PIDD,downstream_gene_variant,,ENST00000527812,;CEND1,upstream_gene_variant,,ENST00000524587,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000529351,;SLC25A22,missense_variant,p.Thr24Ser,ENST00000527734,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000532459,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000527127,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000524891,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000532361,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000525010,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000525644,;PIDD,downstream_gene_variant,,ENST00000531286,;PIDD,downstream_gene_variant,,ENST00000527357,;PIDD,downstream_gene_variant,,ENST00000534525,;PIDD,downstream_gene_variant,,ENST00000525028,;PIDD,downstream_gene_variant,,ENST00000524486,;	552	126	99	SUCCESS
MED13L	23389	.	GRCh37	12	116413042	116413042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	122	0	ENST00000281928.3:c.5665A>G	p.Met1889Val	p.M1889V	ENST00000281928	NM_015335.4	1889	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9177.1	5665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCATTTGGA	NONE	.	.	Pfam_domain:PF06333,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	.	ENSP00000281928	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.09)	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,missense_variant,p.Met1889Val,ENST00000281928,;MED13L,missense_variant,p.Met94Val,ENST00000552447,;MED13L,non_coding_transcript_exon_variant,,ENST00000548694,;MED13L,upstream_gene_variant,,ENST00000548784,;	5872	122	139	SUCCESS
FGD4	121512	.	GRCh37	12	32777603	32777603	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	18	0	ENST00000427716.2:c.1542+217T>G		p.*514*	ENST00000427716	NM_139241.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8727.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTTTGCCA	NONE	.	.	.	.	.	ENSP00000394487	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427716	Transcript	.	.	ENSG00000139132	19125	.	.	MODIFIER	12/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD4_HUMAN	FGD4	HGNC	J3KSS3_HUMAN,F8W1R0_HUMAN	.	UPI000004CCA6	SNV	FGD4,missense_variant,p.Phe270Cys,ENST00000381025,;FGD4,intron_variant,,ENST00000546442,;FGD4,intron_variant,,ENST00000531134,;FGD4,intron_variant,,ENST00000427716,;FGD4,intron_variant,,ENST00000525053,;FGD4,intron_variant,,ENST00000266482,;FGD4,intron_variant,,ENST00000534526,;FGD4,3_prime_UTR_variant,,ENST00000494977,;FGD4,intron_variant,,ENST00000395740,;FGD4,intron_variant,,ENST00000493087,;FGD4,intron_variant,,ENST00000551984,;	.	18	17	SUCCESS
COL2A1	1280	.	GRCh37	12	48388212	48388212	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	43	105	0	ENST00000380518.3:c.811C>A	p.Pro271Thr	p.P271T	ENST00000380518	NM_033150.2	271	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41778.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGACCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Pfam_domain:PF01391	.	.	ENSP00000369889	.	12/54	.	.	.	.	.	.	.	.	.	12/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,missense_variant,p.Pro271Thr,ENST00000380518,;COL2A1,missense_variant,p.Pro202Thr,ENST00000337299,;COL2A1,downstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000474996,;	976	105	150	SUCCESS
PRKAG1	5571	.	GRCh37	12	49412616	49412616	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs376441054	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	96	0	ENST00000548065.1:c.-93G>C		p.*31*	ENST00000548065				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55825.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCACGTC	NONE	.	54	.	.	.	ENSP00000323867	.	.	.	.	.	.	.	.	.	.	rs376441054	.	PASS	ENST00000316299	Transcript	.	.	ENSG00000181929	9385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAKG1_HUMAN	PRKAG1	HGNC	F8W9D1_HUMAN,F8VYZ8_HUMAN,F8VPF5_HUMAN	.	UPI000007202F	SNV	PRKAG1,5_prime_UTR_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000548950,;KMT2D,downstream_gene_variant,,ENST00000301067,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000552212,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000316299,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000395170,;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000547125,;KMT2D,downstream_gene_variant,,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000551696,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547866,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;PRKAG1,upstream_gene_variant,,ENST00000552657,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000546531,;	.	96	78	SUCCESS
NAV3	89795	.	GRCh37	12	78515815	78515815	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	120	0	ENST00000397909.2:c.3845T>C	p.Leu1282Ser	p.L1282S	ENST00000397909	NM_001024383.1	1282	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS41815.1	3845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATTAGCGC	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.1)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Leu1282Ser,ENST00000536525,;NAV3,missense_variant,p.Leu1282Ser,ENST00000397909,;NAV3,missense_variant,p.Leu1282Ser,ENST00000228327,;NAV3,intron_variant,,ENST00000266692,;NAV3,intron_variant,,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	4018	120	115	SUCCESS
TMTC2	160335	.	GRCh37	12	83379701	83379701	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	67	0	ENST00000321196.3:c.1949-3C>T		p.X650_splice	ENST00000321196	NM_152588.1	650		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9025.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCAGGTG	NONE	.	.	.	.	.	ENSP00000322300	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	LOW	7/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,splice_region_variant,,ENST00000321196,;TMTC2,splice_region_variant,,ENST00000549919,;TMTC2,splice_region_variant,,ENST00000551915,;TMTC2,splice_region_variant,,ENST00000546590,;	.	67	82	SUCCESS
JPH4	84502	.	GRCh37	14	24045590	24045590	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	18	0	ENST00000356300.4:c.455C>A	p.Ala152Glu	p.A152E	ENST00000356300	NM_001146028.1	152	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS9603.1	455	MUTECT|MUSE	.	GCGCCGCCTGA	NONE	.	.	PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085:SF14,hmmpanther:PTHR23085	.	.	ENSP00000380307	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000397118	Transcript	.	.	ENSG00000092051	20156	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.89)	.	deleterious(0)	.	JPH4_HUMAN	JPH4	HGNC	.	.	UPI00001C1F68	SNV	JPH4,missense_variant,p.Ala152Glu,ENST00000397118,;JPH4,missense_variant,p.Ala152Glu,ENST00000356300,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,;	1358	18	12	SUCCESS
FOXG1	2290	.	GRCh37	14	29236691	29236691	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs727503933	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	118	1	ENST00000313071.4:c.206C>A	p.Pro69Gln	p.P69Q	ENST00000313071	NM_005249.4	69	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS9636.1	206	MUTECT|MUSE	uncertain_significance	GCCGCCGCAGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Superfamily_domains:SSF81995	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	rs727503933	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Pro69Gln,ENST00000313071,;FOXG1,missense_variant,p.Pro69Gln,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	575	119	106	SUCCESS
FOXG1	2290	.	GRCh37	14	29236703	29236703	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs760663911	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	83	1	ENST00000313071.4:c.218A>C	p.Gln73Pro	p.Q73P	ENST00000313071	NM_005249.4	73	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS9636.1	218	MUTECT|MUSE	uncertain_significance	GCAGCAGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Superfamily_domains:SSF81995	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	rs760663911	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Gln73Pro,ENST00000313071,;FOXG1,missense_variant,p.Gln73Pro,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	587	84	70	SUCCESS
PPP2R5E	5529	.	GRCh37	14	63881864	63881864	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	56	195	0	ENST00000337537.3:c.543A>G	p.Val181=	p.V181=	ENST00000337537	NM_006246.2	181	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS9758.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAATACAAA	NONE	.	.	hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF5,Gene3D:1.25.10.10,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000337641	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000337537	Transcript	.	.	ENSG00000154001	9313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2A5E_HUMAN	PPP2R5E	HGNC	J3KQN6_HUMAN	.	UPI0000124E94	SNV	PPP2R5E,synonymous_variant,p.%3D,ENST00000337537,;PPP2R5E,synonymous_variant,p.%3D,ENST00000422769,;PPP2R5E,synonymous_variant,p.%3D,ENST00000555899,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000553266,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556150,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556484,;	1146	195	182	SUCCESS
STON2	85439	.	GRCh37	14	81743600	81743600	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	86	165	0	ENST00000267540.2:c.2055C>T	p.Thr685=	p.T685=	ENST00000267540	NM_033104.3	685	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS58332.1	2055	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGGTCTT	NONE	.	.	Superfamily_domains:0038852,PIRSF_domain:PIRSF037099,Pfam_domain:PF00928,Gene3D:2.60.40.1170,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19,PROSITE_profiles:PS51072	.	.	ENSP00000450857	.	6/8	.	.	.	.	.	.	.	.	COSM1516000	6/8	PASS	ENST00000555447	Transcript	.	.	ENSG00000140022	30652	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	STON2_HUMAN	STON2	HGNC	G3V322_HUMAN	.	UPI00001FD96B	SNV	STON2,synonymous_variant,p.%3D,ENST00000267540,;STON2,synonymous_variant,p.%3D,ENST00000555447,;STON2,upstream_gene_variant,,ENST00000553821,;STON2,downstream_gene_variant,,ENST00000556280,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	2468	165	140	SUCCESS
EMP2	2013	.	GRCh37	16	10631932	10631932	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	101	0	ENST00000359543.3:c.170-1G>T		p.X57_splice	ENST00000359543	NM_001424.4	57		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10541.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTCTGCGG	NONE	.	.	.	.	.	ENSP00000352540	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359543	Transcript	.	.	ENSG00000213853	3334	.	.	HIGH	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMP2_HUMAN	EMP2	HGNC	.	.	UPI0000129EAA	SNV	EMP2,splice_acceptor_variant,,ENST00000359543,;EMP2,splice_acceptor_variant,,ENST00000536829,;	.	101	101	SUCCESS
MPV17L	255027	.	GRCh37	16	15501708	15501708	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	rs753612895	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	89	1	ENST00000396385.3:c.409C>T	p.Gln137Ter	p.Q137*	ENST00000396385	NM_001128423.1	137	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS45421.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTACAGGTA	NONE	.	.	Pfam_domain:PF04117,hmmpanther:PTHR11266:SF9,hmmpanther:PTHR11266	.	.	ENSP00000379669	.	3/4	.	.	.	.	.	.	.	.	rs753612895	3/4	PASS	ENST00000396385	Transcript	.	.	ENSG00000156968	26827	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP17L_HUMAN	MPV17L	HGNC	.	.	UPI000067CA92	SNV	MPV17L,stop_gained,p.Gln137Ter,ENST00000396385,;MPV17L,missense_variant,p.Thr113Ile,ENST00000287594,;RP11-1021N1.1,intron_variant,,ENST00000568766,;MPV17L,splice_region_variant,,ENST00000564148,;RP11-1021N1.1,intron_variant,,ENST00000567442,;RP11-1021N1.1,intron_variant,,ENST00000568222,;	528	90	92	SUCCESS
TMED6	146456	.	GRCh37	16	69377404	69377404	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	5	170	0	ENST00000288025.3:c.629T>G	p.Leu210Arg	p.L210R	ENST00000288025	NM_144676.3	210	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS10878.1	629	MUTECT|MUSE	.	TAACAAGGCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22811:SF45,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000288025	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000288025	Transcript	.	.	ENSG00000157315	28331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	TMED6_HUMAN	TMED6	HGNC	.	.	UPI0000039E20	SNV	TMED6,missense_variant,p.Leu210Arg,ENST00000288025,;RP11-343C2.9,intron_variant,,ENST00000563634,;COG8,upstream_gene_variant,,ENST00000567493,;COG8,upstream_gene_variant,,ENST00000562595,;NIP7,downstream_gene_variant,,ENST00000569637,;NIP7,downstream_gene_variant,,ENST00000562523,;COG8,upstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000306875,;NIP7,downstream_gene_variant,,ENST00000254941,;NIP7,downstream_gene_variant,,ENST00000254940,;NIP7,downstream_gene_variant,,ENST00000567202,;TMED6,non_coding_transcript_exon_variant,,ENST00000568748,;RP11-343C2.7,intron_variant,,ENST00000570293,;RP11-343C2.7,intron_variant,,ENST00000564737,;NIP7,downstream_gene_variant,,ENST00000562131,;NIP7,downstream_gene_variant,,ENST00000565034,;NIP7,downstream_gene_variant,,ENST00000563364,;	685	170	147	SUCCESS
ZNF469	84627	.	GRCh37	16	88494565	88494565	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	85	195	0	ENST00000437464.1:c.687C>A	p.Ala229=	p.A229=	ENST00000437464	NM_001127464.1	229	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45544.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCAGTGG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,synonymous_variant,p.%3D,ENST00000565624,;ZNF469,synonymous_variant,p.%3D,ENST00000437464,;	687	195	212	SUCCESS
MYH13	8735	.	GRCh37	17	10206563	10206563	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749510137	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	100	0	ENST00000252172.4:c.5617G>A	p.Asp1873Asn	p.D1873N	ENST00000252172	NM_003802.2	1873	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS45613.1	5617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTCCACCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Pfam_domain:PF01576,Superfamily_domains:SSF57997	.	.	ENSP00000404570	.	38/41	.	.	.	.	.	.	.	.	rs749510137	38/41	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.05)	.	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,missense_variant,p.Asp1873Asn,ENST00000418404,;MYH13,missense_variant,p.Asp1873Asn,ENST00000252172,;RP11-401O9.4,intron_variant,,ENST00000609088,;	5781	100	73	SUCCESS
SPECC1	92521	.	GRCh37	17	20135682	20135682	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	94	0	ENST00000261503.5:c.2315G>A	p.Gly772Asp	p.G772D	ENST00000261503	NM_001033553.2	772	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32590.1	2315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGCCACG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.02)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Gly772Asp,ENST00000395527,;SPECC1,missense_variant,p.Gly691Asp,ENST00000395525,;SPECC1,missense_variant,p.Gly691Asp,ENST00000395522,;SPECC1,missense_variant,p.Gly277Asp,ENST00000581399,;SPECC1,missense_variant,p.Gly112Asp,ENST00000536879,;SPECC1,missense_variant,p.Gly190Asp,ENST00000584527,;SPECC1,missense_variant,p.Gly772Asp,ENST00000395529,;SPECC1,missense_variant,p.Gly772Asp,ENST00000261503,;SPECC1,missense_variant,p.Gly691Asp,ENST00000395530,;SPECC1,intron_variant,,ENST00000582226,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,non_coding_transcript_exon_variant,,ENST00000472876,;SPECC1,3_prime_UTR_variant,,ENST00000467722,;	2366	94	80	SUCCESS
SLC46A1	113235	.	GRCh37	17	26731821	26731821	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	130	190	0	ENST00000440501.1:c.894C>A	p.Cys298Ter	p.C298*	ENST00000440501	NM_080669.4	298	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	.	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGCAGAG	BUFFER|p.D300N|c.898G>A|3	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF43,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000395653	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000440501	Transcript	.	.	ENSG00000076351	30521	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCFT_HUMAN	SLC46A1	HGNC	K7EPJ7_HUMAN,J3QRF7_HUMAN,J3KTE6_HUMAN	.	UPI0000050394	SNV	SLC46A1,stop_gained,p.Cys298Ter,ENST00000440501,;SLC46A1,stop_gained,p.Cys224Ter,ENST00000584995,;SLC46A1,stop_gained,p.Cys298Ter,ENST00000321666,;SLC46A1,stop_gained,p.Cys7Ter,ENST00000582735,;SLC46A1,downstream_gene_variant,,ENST00000581516,;SARM1,downstream_gene_variant,,ENST00000457710,;SLC46A1,downstream_gene_variant,,ENST00000584426,;CTD-2350C19.1,downstream_gene_variant,,ENST00000583956,;CTD-2350C19.2,upstream_gene_variant,,ENST00000580714,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SLC46A1,intron_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000582345,;	990	190	259	SUCCESS
KIAA0100	9703	.	GRCh37	17	26946763	26946763	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	29	84	0	ENST00000528896.2:c.5551C>G	p.Leu1851Val	p.L1851V	ENST00000528896	NM_014680.3	1851	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS32595.1	5551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGATTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15678,Pfam_domain:PF10351	.	.	ENSP00000436773	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0)	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,missense_variant,p.Leu1708Val,ENST00000544884,;KIAA0100,missense_variant,p.Leu1708Val,ENST00000389003,;KIAA0100,missense_variant,p.Leu1851Val,ENST00000528896,;SPAG5-AS1,downstream_gene_variant,,ENST00000554154,;SPAG5-AS1,downstream_gene_variant,,ENST00000414744,;SPAG5-AS1,downstream_gene_variant,,ENST00000424210,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000579924,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580395,;KIAA0100,upstream_gene_variant,,ENST00000583860,;SPAG5-AS1,downstream_gene_variant,,ENST00000584675,;	5626	84	105	SUCCESS
PLD2	5338	.	GRCh37	17	4719981	4719981	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	131	0	ENST00000263088.6:c.1522G>A	p.Gly508Ser	p.G508S	ENST00000263088	NM_001243108.1	508	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11057.1	1522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGGCAAG	NONE	.	.	hmmpanther:PTHR18896,hmmpanther:PTHR18896:SF7,PIRSF_domain:PIRSF009376	.	.	ENSP00000263088	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000263088	Transcript	.	.	ENSG00000129219	9068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.553)	.	deleterious(0)	.	PLD2_HUMAN	PLD2	HGNC	I3L222_HUMAN,I3L1F3_HUMAN	.	UPI0000131BDE	SNV	PLD2,missense_variant,p.Gly508Ser,ENST00000263088,;PLD2,missense_variant,p.Gly508Ser,ENST00000572940,;PLD2,upstream_gene_variant,,ENST00000576864,;PLD2,upstream_gene_variant,,ENST00000576983,;PLD2,3_prime_UTR_variant,,ENST00000575246,;PLD2,non_coding_transcript_exon_variant,,ENST00000573258,;PLD2,non_coding_transcript_exon_variant,,ENST00000576329,;PLD2,upstream_gene_variant,,ENST00000572127,;PLD2,upstream_gene_variant,,ENST00000575945,;PLD2,upstream_gene_variant,,ENST00000572199,;PLD2,downstream_gene_variant,,ENST00000574796,;PLD2,downstream_gene_variant,,ENST00000575813,;PLD2,upstream_gene_variant,,ENST00000571273,;	1653	131	84	SUCCESS
TEX14	56155	.	GRCh37	17	56707834	56707834	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	241	62	125	1	ENST00000240361.8:c.218A>T	p.Asp73Val	p.D73V	ENST00000240361		73	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS56042.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATCAACG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR23060,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000240361	.	3/33	.	.	.	.	.	.	.	.	COSM84406	3/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,missense_variant,p.Asp73Val,ENST00000349033,;TEX14,missense_variant,p.Asp73Val,ENST00000389934,;TEX14,missense_variant,p.Asp73Val,ENST00000240361,;U3,downstream_gene_variant,,ENST00000390893,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	304	126	303	SUCCESS
TP53	7157	.	GRCh37	17	7578555	7578555	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs868137297	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	90	0	ENST00000269305.4:c.376-1G>A		p.X126_splice	ENST00000269305	NM_001126112.2	126		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTACTGTAG	SITE|p.?|c.376-1G>A|19,SITE|p.?|c.376-1G>A|11,SITE|p.?|c.376-1G>A|10,SITE|p.?|c.376-1G>A|19,SITE|p.?|c.376-1G>A|11,SITE|p.?|c.97-1G>A|20,SITE|p.?|c.376-1G>A|19,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.Y126_K132delYSPALNK|c.376_396del21|6,BUFFER|p.Y126_N131delYSPALN|c.376_393del18|3,BUFFER|p.P128L|c.383C>T|3,BUFFER|p.P128fs*42|c.382delC|3,BUFFER|p.P128S|c.382C>T|7,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S127Y|c.380C>A|10,BUFFER|p.S34F|c.101C>T|11,BUFFER|p.S127F|c.380C>T|4,BUFFER|p.S127F|c.380C>T|33,BUFFER|p.S127F|c.380C>T|3,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S34P|c.100T>C|4,BUFFER|p.S34T|c.100T>A|4,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.S127P|c.379T>C|8,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127T|c.379T>A|10,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.Y126*|c.378C>G|3,BUFFER|p.Y126*|c.378C>G|4,BUFFER|p.Y126*|c.378C>G|3,BUFFER|p.Y126*|c.378C>A|4,BUFFER|p.Y33*|c.99C>G|3,BUFFER|p.Y126C|c.377A>G|6,BUFFER|p.Y33C|c.98A>G|6,BUFFER|p.Y126C|c.377A>G|3,BUFFER|p.Y126C|c.377A>G|6,BUFFER|p.Y126C|c.377A>G|9,BUFFER|p.Y126S|c.377A>C|3,BUFFER|p.Y126C|c.377A>G|5,BUFFER|p.Y126N|c.376T>A|7,BUFFER|p.Y33D|c.97T>G|7,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.Y126D|c.376T>G|10,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.?|c.97-1G>T|3,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>T|9,BUFFER|p.?|c.376-2A>G|4,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.97-2A>T|3,BUFFER|p.?|c.97-2A>G|10,BUFFER|p.?|c.376-2A>G|17,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-2A>G|6,BUFFER|p.?|c.376-2A>C|4,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-4A>G|3	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	TP53_g.12363del,TP53_g.12363G>A,TP53_g.12363G>T,TP53_g.12363G>C,COSM21572,COSM6900,COSM22908,COSM45809,COSM45364,COSM1167885,COSM218537,COSM218536,COSM1167886,COSM3378369,COSM3388229,COSM2156353,COSM2744965,COSM218538,COSM1167887	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	4/10	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	.	90	55	SUCCESS
PER1	5187	.	GRCh37	17	8049994	8049994	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752103451	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	62	0	ENST00000317276.4:c.1825G>T	p.Ala609Ser	p.A609S	ENST00000317276	NM_002616.2	609	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11131.1	1825	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCTAGTG	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	15/23	.	.	.	.	.	.	.	.	rs752103451	15/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.38)	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	SNV	PER1,missense_variant,p.Ala609Ser,ENST00000317276,;PER1,missense_variant,p.Ala589Ser,ENST00000581082,;PER1,missense_variant,p.Ala593Ser,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,upstream_gene_variant,,ENST00000583559,;PER1,downstream_gene_variant,,ENST00000577253,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,stop_lost,p.Ter573TyrextTer75,ENST00000581395,;PER1,missense_variant,p.Ala609Ser,ENST00000582719,;PER1,non_coding_transcript_exon_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000585284,;PER1,upstream_gene_variant,,ENST00000579098,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,downstream_gene_variant,,ENST00000578223,;	2063	62	42	SUCCESS
DSC3	1825	.	GRCh37	18	28598662	28598662	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	51	0	ENST00000360428.4:c.1047T>G	p.Asn349Lys	p.N349K	ENST00000360428	NM_001941.3	349	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS32810.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCATTTGA	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268	.	.	ENSP00000353608	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000360428	Transcript	.	.	ENSG00000134762	3037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DSC3_HUMAN	DSC3	HGNC	.	.	UPI000004CAAD	SNV	DSC3,missense_variant,p.Asn349Lys,ENST00000360428,;DSC3,missense_variant,p.Asn349Lys,ENST00000434452,;	1128	51	48	SUCCESS
ST8SIA5	29906	.	GRCh37	18	44268787	44268787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	54	79	0	ENST00000315087.7:c.407C>A	p.Thr136Asn	p.T136N	ENST00000315087	NM_013305.4	136	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS11930.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGTGTCC	NONE	.	.	hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF4,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000321343	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000315087	Transcript	.	.	ENSG00000101638	17827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	SIA8E_HUMAN	ST8SIA5	HGNC	B3KSU2_HUMAN	.	UPI000013C72F	SNV	ST8SIA5,missense_variant,p.Thr105Asn,ENST00000536490,;ST8SIA5,missense_variant,p.Thr172Asn,ENST00000538168,;ST8SIA5,missense_variant,p.Thr136Asn,ENST00000315087,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000589088,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000587428,;ST8SIA5,downstream_gene_variant,,ENST00000588155,;ST8SIA5,downstream_gene_variant,,ENST00000591375,;	1068	79	103	SUCCESS
NDUFV2	4729	.	GRCh37	18	9117876	9117876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	245	93	341	0	ENST00000318388.6:c.95A>G	p.Asn32Ser	p.N32S	ENST00000318388	NM_021074.4	32	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11842.1	95	RADIA|MUTECT|MUSE	.	GCAAAATGGAG	NONE	.	.	hmmpanther:PTHR10371,hmmpanther:PTHR10371:SF3	.	.	ENSP00000327268	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000318388	Transcript	.	.	ENSG00000178127	7717	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.73)	.	NDUV2_HUMAN	NDUFV2	HGNC	.	.	UPI0000052A59	SNV	NDUFV2,missense_variant,p.Asn32Ser,ENST00000318388,;NDUFV2,missense_variant,p.Asn35Ser,ENST00000400033,;RP11-143J12.2,downstream_gene_variant,,ENST00000582375,;RP11-143J12.3,upstream_gene_variant,,ENST00000579467,;RP11-143J12.2,downstream_gene_variant,,ENST00000583081,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000483511,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000583375,;RP11-21J18.1,intron_variant,,ENST00000578850,;NDUFV2,upstream_gene_variant,,ENST00000465096,;NDUFV2,3_prime_UTR_variant,,ENST00000577703,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000474350,;	209	341	338	SUCCESS
CPAMD8	27151	.	GRCh37	19	17017877	17017877	+	synonymous_variant	Silent	SNP	C	C	T	rs757256301	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	54	123	0	ENST00000443236.1:c.4053G>A	p.Ala1351=	p.A1351=	ENST00000443236	NM_015692.2	1351	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42519.1	4053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239	.	.	ENSP00000402505	.	30/42	.	.	.	.	.	.	.	.	rs757256301,COSM3764706	30/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,synonymous_variant,p.%3D,ENST00000443236,;CPAMD8,upstream_gene_variant,,ENST00000594249,;RN7SL823P,downstream_gene_variant,,ENST00000584886,;RN7SL835P,upstream_gene_variant,,ENST00000579920,;	4085	123	100	SUCCESS
RPL18A	6142	.	GRCh37	19	17972267	17972267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	57	0	ENST00000222247.5:c.184G>T	p.Val62Phe	p.V62F	ENST00000222247	NM_000980.3	62	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS12367.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTGTCTAC	NONE	.	.	HAMAP:MF_00273,hmmpanther:PTHR10052:SF6,hmmpanther:PTHR10052,Pfam_domain:PF01775,PIRSF_domain:PIRSF002190	.	.	ENSP00000222247	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000222247	Transcript	.	.	ENSG00000105640	10311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	RL18A_HUMAN	RPL18A	HGNC	Q76N54_HUMAN,M0R3D6_HUMAN,M0R1A7_HUMAN,B4DUV3_HUMAN	.	UPI0000133CD9	SNV	RPL18A,missense_variant,p.Val33Phe,ENST00000597648,;RPL18A,missense_variant,p.Val33Phe,ENST00000599870,;RPL18A,missense_variant,p.Val62Phe,ENST00000600147,;RPL18A,missense_variant,p.Val23Phe,ENST00000599898,;RPL18A,missense_variant,p.Val62Phe,ENST00000222247,;SNORA68,upstream_gene_variant,,ENST00000384437,;RPL18A,non_coding_transcript_exon_variant,,ENST00000600238,;RPL18A,non_coding_transcript_exon_variant,,ENST00000602216,;	265	57	29	SUCCESS
ZNF208	7757	.	GRCh37	19	22156515	22156515	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	27	118	0	ENST00000397126.4:c.1321A>G	p.Met441Val	p.M441V	ENST00000397126	NM_007153.3	441	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS54240.1	1321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATAAGGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.48)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Met441Val,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	1470	118	137	SUCCESS
KIAA0355	0	.	GRCh37	19	34791659	34791659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	49	95	2	ENST00000299505.6:c.281G>A	p.Ser94Asn	p.S94N	ENST00000299505	NM_014686.3	94	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS12436.1	281	SOMATICSNIPER|VARSCANS	.	TGCCAGTACTT	NONE	.	.	hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	.	ENSP00000299505	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.916)	.	deleterious_low_confidence(0.02)	.	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,splice_acceptor_variant,,ENST00000588470,;KIAA0355,missense_variant,p.Ser94Asn,ENST00000299505,;KIAA0355,intron_variant,,ENST00000588338,;KIAA0355,downstream_gene_variant,,ENST00000589583,;KIAA0355,downstream_gene_variant,,ENST00000592124,;KIAA0355,downstream_gene_variant,,ENST00000585833,;RPL29P33,upstream_gene_variant,,ENST00000431093,;RPL29P33,upstream_gene_variant,,ENST00000587474,;	1154	97	106	SUCCESS
SYNE4	163183	.	GRCh37	19	36499653	36499653	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	60	0	ENST00000324444.3:c.-70G>T		p.*24*	ENST00000324444	NM_001039876.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42553.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTCCCAGA	NONE	.	.	.	.	.	ENSP00000316130	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000324444	Transcript	1	.	ENSG00000181392	26703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE4_HUMAN	SYNE4	HGNC	.	.	UPI00006CA35A	SNV	SYNE4,5_prime_UTR_variant,,ENST00000490730,;SYNE4,5_prime_UTR_variant,,ENST00000340477,;SYNE4,5_prime_UTR_variant,,ENST00000324444,;ALKBH6,downstream_gene_variant,,ENST00000252984,;SYNE4,upstream_gene_variant,,ENST00000503121,;ALKBH6,downstream_gene_variant,,ENST00000378875,;ALKBH6,downstream_gene_variant,,ENST00000485128,;SYNE4,upstream_gene_variant,,ENST00000397428,;ALKBH6,downstream_gene_variant,,ENST00000486389,;ALKBH6,downstream_gene_variant,,ENST00000495116,;SYNE4,non_coding_transcript_exon_variant,,ENST00000465425,;AC002116.8,intron_variant,,ENST00000473572,;ALKBH6,downstream_gene_variant,,ENST00000392183,;ALKBH6,downstream_gene_variant,,ENST00000590666,;ALKBH6,downstream_gene_variant,,ENST00000466196,;ALKBH6,downstream_gene_variant,,ENST00000490986,;ALKBH6,downstream_gene_variant,,ENST00000475223,;ALKBH6,downstream_gene_variant,,ENST00000490483,;ALKBH6,downstream_gene_variant,,ENST00000461668,;ALKBH6,downstream_gene_variant,,ENST00000468004,;ALKBH6,downstream_gene_variant,,ENST00000470859,;SYNE4,upstream_gene_variant,,ENST00000505054,;ALKBH6,downstream_gene_variant,,ENST00000462793,;ALKBH6,downstream_gene_variant,,ENST00000471323,;ALKBH6,downstream_gene_variant,,ENST00000497999,;ALKBH6,downstream_gene_variant,,ENST00000592353,;ALKBH6,downstream_gene_variant,,ENST00000481257,;	43	60	45	SUCCESS
RYR1	6261	.	GRCh37	19	39034235	39034235	+	synonymous_variant	Silent	SNP	A	A	C	rs764025285	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	88	0	ENST00000359596.3:c.11842A>C	p.Arg3948=	p.R3948=	ENST00000359596		3948	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS33011.1	11842	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGAGGAAC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF08454	.	.	ENSP00000352608	.	86/106	.	.	.	.	.	.	.	.	rs764025285	86/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;RYR1,downstream_gene_variant,,ENST00000596431,;RYR1,3_prime_UTR_variant,,ENST00000593322,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	11842	88	104	SUCCESS
PSG3	5671	.	GRCh37	19	43236995	43236995	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	81	71	0	ENST00000327495.5:c.650G>A	p.Cys217Tyr	p.C217Y	ENST00000327495	NM_021016.3	217	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS12611.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACATTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332215	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000327495	Transcript	.	.	ENSG00000221826	9520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PSG3_HUMAN	PSG3	HGNC	.	.	UPI0000073DC1	SNV	PSG3,missense_variant,p.Cys217Tyr,ENST00000595140,;PSG3,missense_variant,p.Cys217Tyr,ENST00000327495,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;	835	71	135	SUCCESS
NKPD1	284353	.	GRCh37	19	45656158	45656158	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758655376	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	75	124	0	ENST00000438936.2:c.871G>T	p.Asp291Tyr	p.D291Y	ENST00000438936		291	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	.	1537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCGGCCG	NONE	.	.	hmmpanther:PTHR22674,hmmpanther:PTHR22674:SF4,Pfam_domain:PF07693	.	.	ENSP00000321976	.	4/4	.	.	.	.	.	.	.	.	rs758655376	4/4	PASS	ENST00000317951	Transcript	.	.	ENSG00000179846	24739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	NKPD1	HGNC	J3KNK3_HUMAN	.	UPI000059D74A	SNV	NKPD1,missense_variant,p.Asp291Tyr,ENST00000589776,;NKPD1,missense_variant,p.Asp513Tyr,ENST00000317951,;NKPD1,missense_variant,p.Asp291Tyr,ENST00000438936,;NKPD1,missense_variant,p.Asp291Tyr,ENST00000429338,;MARK4,intron_variant,,ENST00000587566,;AC005757.7,upstream_gene_variant,,ENST00000589594,;PPP1R37,downstream_gene_variant,,ENST00000422370,;	1537	124	142	SUCCESS
SYMPK	8189	.	GRCh37	19	46338486	46338486	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	25	0	ENST00000245934.7:c.1243G>T	p.Val415Phe	p.V415F	ENST00000245934	NM_004819.2	415	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS12676.2	1243	MUTECT|MUSE	.	GAGGACCTGTG	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	.	.	ENSP00000245934	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,missense_variant,p.Val415Phe,ENST00000245934,;AC092301.3,downstream_gene_variant,,ENST00000601618,;SYMPK,splice_region_variant,,ENST00000593899,;SYMPK,downstream_gene_variant,,ENST00000596518,;SYMPK,missense_variant,p.Val415Phe,ENST00000600237,;SYMPK,splice_region_variant,,ENST00000598896,;SYMPK,splice_region_variant,,ENST00000599460,;SYMPK,splice_region_variant,,ENST00000599814,;SYMPK,splice_region_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000601582,;	1488	25	36	SUCCESS
RASIP1	54922	.	GRCh37	19	49232728	49232728	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	41	132	1	ENST00000222145.4:c.1299C>T	p.Ile433=	p.I433=	ENST00000222145	NM_017805.2	433	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12731.1	1299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGATGTC	NONE	.	.	hmmpanther:PTHR16027:SF4,hmmpanther:PTHR16027,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000222145	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000222145	Transcript	.	.	ENSG00000105538	24716	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAIN_HUMAN	RASIP1	HGNC	Q9NX72_HUMAN,Q7L251_HUMAN,B3KVR5_HUMAN	.	UPI000020283D	SNV	RASIP1,synonymous_variant,p.%3D,ENST00000222145,;RASIP1,intron_variant,,ENST00000599291,;RASIP1,downstream_gene_variant,,ENST00000594232,;RASIP1,upstream_gene_variant,,ENST00000601530,;	1504	134	194	SUCCESS
ZNF579	163033	.	GRCh37	19	56090898	56090899	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs1599971217	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	31	0	ENST00000325421.4:c.107dup	p.Ala37ArgfsTer5	p.A37Rfs*5	ENST00000325421	NM_152600.2	36	ggc/ggGc	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS12927.1	107-108	INDELOCATOR|VARSCANI	.	CCAGCGCCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000320188	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325421	Transcript	.	.	ENSG00000218891	26646	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN579_HUMAN	ZNF579	HGNC	.	.	UPI0000141657	insertion	ZNF579,frameshift_variant,p.Ala37ArgfsTer5,ENST00000325421,;ZNF579,downstream_gene_variant,,ENST00000592239,;CTD-2537I9.5,upstream_gene_variant,,ENST00000589396,;	136-137	31	53	SUCCESS
CRB3	92359	.	GRCh37	19	6464770	6464770	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	37	0	ENST00000308243.7:c.58C>G	p.Arg20Gly	p.R20G	ENST00000308243		20	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS12166.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCGCTGG	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM	.	.	ENSP00000349204	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000356762	Transcript	.	.	ENSG00000130545	20237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	tolerated_low_confidence(0.28)	.	CRUM3_HUMAN	CRB3	HGNC	.	.	UPI00000389E7	SNV	CRB3,missense_variant,p.Arg20Gly,ENST00000308243,;CRB3,missense_variant,p.Arg20Gly,ENST00000600229,;CRB3,missense_variant,p.Arg20Gly,ENST00000598494,;CRB3,missense_variant,p.Arg20Gly,ENST00000356762,;SLC25A23,intron_variant,,ENST00000597307,;DENND1C,downstream_gene_variant,,ENST00000381480,;DENND1C,downstream_gene_variant,,ENST00000543576,;DENND1C,downstream_gene_variant,,ENST00000590867,;DENND1C,downstream_gene_variant,,ENST00000591795,;SLC25A23,upstream_gene_variant,,ENST00000595267,;DENND1C,downstream_gene_variant,,ENST00000590444,;DENND1C,downstream_gene_variant,,ENST00000590818,;	220	37	24	SUCCESS
DDX20	11218	.	GRCh37	1	112309297	112309297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	55	162	0	ENST00000369702.4:c.2251C>A	p.Gln751Lys	p.Q751K	ENST00000369702	NM_007204.4	751	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS842.1	2251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCAGGAA	NONE	.	.	hmmpanther:PTHR24031:SF159,hmmpanther:PTHR24031	.	.	ENSP00000358716	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000369702	Transcript	.	.	ENSG00000064703	2743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.57)	.	DDX20_HUMAN	DDX20	HGNC	.	.	UPI0000129080	SNV	DDX20,missense_variant,p.Gln359Lys,ENST00000475700,;DDX20,missense_variant,p.Gln751Lys,ENST00000369702,;KCND3,downstream_gene_variant,,ENST00000369697,;DDX20,downstream_gene_variant,,ENST00000536167,;DDX20,downstream_gene_variant,,ENST00000533164,;DDX20,downstream_gene_variant,,ENST00000524894,;DDX20,downstream_gene_variant,,ENST00000534200,;	2871	162	199	SUCCESS
FLG	2312	.	GRCh37	1	152279113	152279113	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	304	82	347	0	ENST00000368799.1:c.8249C>G	p.Ser2750Cys	p.S2750C	ENST00000368799	NM_002016.1	2750	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS30860.1	8249	MUTECT|MUSE|VARSCANS	.	GGGAGGACTCA	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.984)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser2750Cys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8285	348	386	SUCCESS
GATAD2B	57459	.	GRCh37	1	153788806	153788806	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	78	123	0	ENST00000368655.4:c.1159G>T	p.Glu387Ter	p.E387*	ENST00000368655	NM_020699.2	387	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1054.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCGCTAT	NONE	.	.	hmmpanther:PTHR13455:SF4,hmmpanther:PTHR13455	.	.	ENSP00000357644	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000368655	Transcript	.	.	ENSG00000143614	30778	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P66B_HUMAN	GATAD2B	HGNC	.	.	UPI0000071E1B	SNV	GATAD2B,stop_gained,p.Glu387Ter,ENST00000368655,;	1403	123	155	SUCCESS
PPOX	5498	.	GRCh37	1	161138218	161138218	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	41	99	0	ENST00000352210.5:c.472-4T>C		p.X158_splice	ENST00000352210	NM_000309.3	158		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1221.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTTAAGGT	NONE	.	.	.	.	.	ENSP00000356978	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367999	Transcript	.	.	ENSG00000143224	9280	.	.	LOW	5/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPOX_HUMAN	PPOX	HGNC	Q96TC9_HUMAN,Q96SE3_HUMAN	.	UPI0000000C3C	SNV	PPOX,splice_region_variant,,ENST00000367999,;PPOX,splice_region_variant,,ENST00000352210,;PPOX,intron_variant,,ENST00000544598,;PPOX,intron_variant,,ENST00000432542,;PPOX,intron_variant,,ENST00000535223,;B4GALT3,downstream_gene_variant,,ENST00000319769,;USP21,downstream_gene_variant,,ENST00000289865,;B4GALT3,downstream_gene_variant,,ENST00000367998,;USP21,downstream_gene_variant,,ENST00000368001,;PPOX,upstream_gene_variant,,ENST00000537523,;USP21,downstream_gene_variant,,ENST00000368002,;PPOX,upstream_gene_variant,,ENST00000537829,;PPOX,splice_region_variant,,ENST00000494216,;PPOX,non_coding_transcript_exon_variant,,ENST00000462977,;PPOX,non_coding_transcript_exon_variant,,ENST00000495483,;PPOX,non_coding_transcript_exon_variant,,ENST00000460611,;PPOX,intron_variant,,ENST00000497522,;PPOX,intron_variant,,ENST00000470607,;PPOX,intron_variant,,ENST00000462866,;B4GALT3,downstream_gene_variant,,ENST00000470882,;PPOX,downstream_gene_variant,,ENST00000490768,;B4GALT3,downstream_gene_variant,,ENST00000486938,;PPOX,upstream_gene_variant,,ENST00000466452,;USP21,downstream_gene_variant,,ENST00000493054,;PPOX,splice_region_variant,,ENST00000479246,;PPOX,intron_variant,,ENST00000539753,;PPOX,downstream_gene_variant,,ENST00000468968,;USP21,downstream_gene_variant,,ENST00000485277,;USP21,downstream_gene_variant,,ENST00000482385,;PPOX,upstream_gene_variant,,ENST00000541818,;USP21,downstream_gene_variant,,ENST00000487163,;	.	99	152	SUCCESS
TNN	63923	.	GRCh37	1	175067569	175067569	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199634558	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	282	269	370	0	ENST00000239462.4:c.1957C>T	p.Arg653Cys	p.R653C	ENST00000239462	NM_022093.1	653	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS30943.1	1957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGCGCTAC	BUFFER|p.Y650Y|c.1950C>T|3	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	T:0.0001	ENSP00000239462	.	9/19	.	.	.	.	.	.	.	.	rs199634558	9/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0.02)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Arg653Cys,ENST00000239462,;	2070	370	552	SUCCESS
ENO1P1	2025	.	GRCh37	1	236646851	236646851	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	48	0	ENST00000366587.4:n.387C>T		p.*129*	ENST00000366587				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1610.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCCTGTA	NONE	.	859	.	.	.	ENSP00000335076	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334232	Transcript	.	.	ENSG00000186197	14341	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDAD_HUMAN	EDARADD	HGNC	B1AL55_HUMAN	.	UPI0000456324	SNV	EDARADD,3_prime_UTR_variant,,ENST00000359362,;EDARADD,downstream_gene_variant,,ENST00000334232,;EDARADD,downstream_gene_variant,,ENST00000439430,;ENO1P1,non_coding_transcript_exon_variant,,ENST00000366587,;	.	48	51	SUCCESS
SDCCAG8	10806	.	GRCh37	1	243589739	243589739	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	232	124	367	0	ENST00000366541.3:c.1864G>T	p.Ala622Ser	p.A622S	ENST00000366541	NM_006642.3	622	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31075.1	1864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAGCTCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000355499	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000366541	Transcript	.	.	ENSG00000054282	10671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.85)	.	SDCG8_HUMAN	SDCCAG8	HGNC	A6NCS9_HUMAN	.	UPI000000D77E	SNV	SDCCAG8,missense_variant,p.Ala579Ser,ENST00000355875,;SDCCAG8,missense_variant,p.Ala477Ser,ENST00000343783,;SDCCAG8,missense_variant,p.Ala323Ser,ENST00000435549,;SDCCAG8,missense_variant,p.Ala622Ser,ENST00000366541,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000463042,;	1982	367	357	SUCCESS
ZBTB18	10472	.	GRCh37	1	244218178	244218178	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	81	0	ENST00000358704.4:c.1102G>T	p.Val368Phe	p.V368F	ENST00000358704	NM_205768.2	368	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1622.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACGTCTCC	NONE	.	.	hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.02)	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,missense_variant,p.Val368Phe,ENST00000358704,;	1251	81	87	SUCCESS
ZNF672	79894	.	GRCh37	1	249142142	249142142	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	72	0	ENST00000306562.3:c.669G>C	p.Gly223=	p.G223=	ENST00000306562	NM_024836.1	223	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS1638.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGGGAGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000421915	.	4/4	.	.	.	.	.	.	.	.	COSM300356	4/4	PASS	ENST00000306562	Transcript	.	.	ENSG00000171161	26179	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN672_HUMAN	ZNF672	HGNC	D6RH11_HUMAN,D6RD56_HUMAN	.	UPI0000070D6C	SNV	ZNF672,synonymous_variant,p.%3D,ENST00000306562,;ZNF692,downstream_gene_variant,,ENST00000427146,;ZNF692,downstream_gene_variant,,ENST00000451251,;ZNF672,downstream_gene_variant,,ENST00000423362,;ZNF672,downstream_gene_variant,,ENST00000428515,;ZNF672,downstream_gene_variant,,ENST00000505503,;ZNF692,downstream_gene_variant,,ENST00000306601,;ZNF692,downstream_gene_variant,,ENST00000366471,;ZNF692,downstream_gene_variant,,ENST00000366469,;ZNF692,downstream_gene_variant,,ENST00000476503,;ZNF672,downstream_gene_variant,,ENST00000510904,;ZNF672,downstream_gene_variant,,ENST00000502697,;ZNF672,downstream_gene_variant,,ENST00000515369,;ZNF692,downstream_gene_variant,,ENST00000477070,;ZNF692,downstream_gene_variant,,ENST00000482023,;ZNF692,downstream_gene_variant,,ENST00000463519,;ZNF692,downstream_gene_variant,,ENST00000474351,;ZNF692,downstream_gene_variant,,ENST00000462037,;ZNF692,downstream_gene_variant,,ENST00000412341,;ZNF692,downstream_gene_variant,,ENST00000470787,;ZNF692,downstream_gene_variant,,ENST00000533927,;	1415	72	60	SUCCESS
CCDC17	149483	.	GRCh37	1	46088962	46088962	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	27	41	0	ENST00000528266.1:c.420G>A	p.Ala140=	p.A140=	ENST00000528266		140	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44131.2	420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGCGCCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000432172	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000528266	Transcript	.	.	ENSG00000159588	26574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD17_HUMAN	CCDC17	HGNC	.	.	UPI0001AE78A9	SNV	CCDC17,synonymous_variant,p.%3D,ENST00000528266,;CCDC17,synonymous_variant,p.%3D,ENST00000343901,;CCDC17,synonymous_variant,p.%3D,ENST00000421127,;CCDC17,intron_variant,,ENST00000445048,;NASP,downstream_gene_variant,,ENST00000350030,;GPBP1L1,downstream_gene_variant,,ENST00000355105,;GPBP1L1,downstream_gene_variant,,ENST00000290795,;GPBP1L1,downstream_gene_variant,,ENST00000479235,;GPBP1L1,downstream_gene_variant,,ENST00000487436,;GPBP1L1,downstream_gene_variant,,ENST00000467032,;CCDC17,upstream_gene_variant,,ENST00000464739,;CCDC17,synonymous_variant,p.%3D,ENST00000479529,;CCDC17,non_coding_transcript_exon_variant,,ENST00000525599,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;CCDC17,intron_variant,,ENST00000372044,;	568	41	49	SUCCESS
INSM1	3642	.	GRCh37	20	20349969	20349969	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771213335	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	14	0	ENST00000310227.1:c.1058G>T	p.Ser353Ile	p.S353I	ENST00000310227	NM_002196.2	353	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS13143.1	1058	MUTECT|MUSE	.	GCCGAGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15065,hmmpanther:PTHR15065:SF5	.	.	ENSP00000312631	.	1/1	.	.	.	.	.	.	.	.	rs771213335	1/1	PASS	ENST00000310227	Transcript	.	.	ENSG00000173404	6090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.403)	.	deleterious(0)	.	INSM1_HUMAN	INSM1	HGNC	.	.	UPI0000046C2F	SNV	INSM1,missense_variant,p.Ser353Ile,ENST00000310227,;	1205	14	9	SUCCESS
SULF2	55959	.	GRCh37	20	46365492	46365492	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	85	0	ENST00000359930.4:c.370A>G	p.Ser124Gly	p.S124G	ENST00000359930	NM_018837.3	124	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS13408.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTCTCGT	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	.	.	ENSP00000353007	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000359930	Transcript	.	.	ENSG00000196562	20392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.02)	.	SULF2_HUMAN	SULF2	HGNC	Q5BKT1_HUMAN,B1AMP9_HUMAN	.	UPI000003FFBA	SNV	SULF2,missense_variant,p.Ser124Gly,ENST00000359930,;SULF2,missense_variant,p.Ser124Gly,ENST00000484875,;SULF2,missense_variant,p.Ser124Gly,ENST00000467815,;SULF2,missense_variant,p.Ser124Gly,ENST00000361612,;SULF2,missense_variant,p.Ser124Gly,ENST00000437955,;SULF2,non_coding_transcript_exon_variant,,ENST00000478766,;SULF2,intron_variant,,ENST00000474450,;SULF2,non_coding_transcript_exon_variant,,ENST00000463221,;	1222	85	86	SUCCESS
PCNT	5116	.	GRCh37	21	47851867	47851867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	25	100	0	ENST00000359568.5:c.8489G>T	p.Cys2830Phe	p.C2830F	ENST00000359568	NM_006031.5	2830	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS33592.1	8489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGTGAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Cys2830Phe,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000482575,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;	8596	100	50	SUCCESS
C22orf29	0	.	GRCh37	22	19839750	19839750	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs9618711	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	37	121	0	ENST00000405640.1:c.35G>A	p.Arg12His	p.R12H	ENST00000405640		12	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS13769.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCGAGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15503:SF4,hmmpanther:PTHR15503	.	T:0.0001	ENSP00000384924	.	2/2	.	.	.	.	.	.	.	.	rs9618711,COSM182193	2/2	PASS	ENST00000405640	Transcript	.	.	ENSG00000215012	26112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.614)	.	tolerated_low_confidence(0.22)	0,1	BOP_HUMAN	C22orf29	HGNC	C9J0V4_HUMAN	.	UPI0000207B8F	SNV	C22orf29,missense_variant,p.Arg12His,ENST00000416337,;C22orf29,missense_variant,p.Arg12His,ENST00000407472,;C22orf29,missense_variant,p.Arg12His,ENST00000328554,;C22orf29,missense_variant,p.Arg12His,ENST00000405640,;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000329517,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;C22orf29,intron_variant,,ENST00000484072,;	704	121	121	SUCCESS
CD302	9936	.	GRCh37	2	160654643	160654643	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	40	0	ENST00000259053.4:c.67G>T	p.Asp23Tyr	p.D23Y	ENST00000259053	NM_014880.4	23	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS33308.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCCGCGA	NONE	.	.	hmmpanther:PTHR22803:SF64,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	.	.	ENSP00000259053	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000259053	Transcript	.	.	ENSG00000241399	30843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	CD302_HUMAN	CD302	HGNC	.	.	UPI000007443B	SNV	CD302,missense_variant,p.Asp23Tyr,ENST00000259053,;CD302,missense_variant,p.Asp23Tyr,ENST00000429078,;LY75-CD302,intron_variant,,ENST00000504764,;LY75,intron_variant,,ENST00000553424,;LY75,intron_variant,,ENST00000554112,;LY75-CD302,intron_variant,,ENST00000505052,;CD302,splice_region_variant,,ENST00000480212,;	111	40	58	SUCCESS
ITGA6	3655	.	GRCh37	2	173355794	173355794	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	237	118	332	0	ENST00000442250.1:c.2839C>G	p.Gln947Glu	p.Q947E	ENST00000442250		947	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS46451.1	2722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACAGATA	NONE	.	.	hmmpanther:PTHR23220:SF9,hmmpanther:PTHR23220,Gene3D:1jv2A04,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000386896	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000409080	Transcript	.	.	ENSG00000091409	6142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.7)	.	ITA6_HUMAN	ITGA6	HGNC	C9JXX7_HUMAN	.	UPI0000EA87E5	SNV	ITGA6,missense_variant,p.Gln75Glu,ENST00000416789,;ITGA6,missense_variant,p.Gln903Glu,ENST00000458358,;ITGA6,missense_variant,p.Gln947Glu,ENST00000442250,;ITGA6,missense_variant,p.Gln947Glu,ENST00000264106,;ITGA6,missense_variant,p.Gln947Glu,ENST00000375221,;ITGA6,missense_variant,p.Gln903Glu,ENST00000343713,;ITGA6,missense_variant,p.Gln789Glu,ENST00000409532,;ITGA6,missense_variant,p.Gln908Glu,ENST00000264107,;ITGA6,missense_variant,p.Gln908Glu,ENST00000409080,;AC093818.1,intron_variant,,ENST00000442417,;ITGA6,non_coding_transcript_exon_variant,,ENST00000470259,;ITGA6,non_coding_transcript_exon_variant,,ENST00000475302,;ITGA6,downstream_gene_variant,,ENST00000469534,;	2722	332	355	SUCCESS
PGAP1	80055	.	GRCh37	2	197738476	197738476	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	49	175	0	ENST00000354764.4:c.1433C>G	p.Ser478Cys	p.S478C	ENST00000354764	NM_024989.3	478	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS2318.1	1433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGACAAT	NONE	.	.	hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF15	.	.	ENSP00000346809	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000354764	Transcript	.	.	ENSG00000197121	25712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	deleterious(0)	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	SNV	PGAP1,missense_variant,p.Ser478Cys,ENST00000409475,;PGAP1,missense_variant,p.Ser478Cys,ENST00000354764,;PGAP1,non_coding_transcript_exon_variant,,ENST00000482051,;PGAP1,3_prime_UTR_variant,,ENST00000423035,;PGAP1,non_coding_transcript_exon_variant,,ENST00000476250,;PGAP1,non_coding_transcript_exon_variant,,ENST00000470179,;	1548	175	153	SUCCESS
UGP2	7360	.	GRCh37	2	64114716	64114716	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	59	173	0	ENST00000337130.5:c.1252A>C	p.Met418Leu	p.M418L	ENST00000337130	NM_006759.3	418	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS1875.1	1252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAATGAGT	NONE	.	.	Superfamily_domains:SSF53448,PIRSF_domain:PIRSF000806,Pfam_domain:PF01704,hmmpanther:PTHR11952:SF1,hmmpanther:PTHR11952	.	.	ENSP00000338703	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000337130	Transcript	.	.	ENSG00000169764	12527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.41)	.	UGPA_HUMAN	UGP2	HGNC	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN	.	UPI000000DB95	SNV	UGP2,missense_variant,p.Met407Leu,ENST00000394417,;UGP2,missense_variant,p.Met427Leu,ENST00000445915,;UGP2,missense_variant,p.Met418Leu,ENST00000337130,;UGP2,missense_variant,p.Met407Leu,ENST00000467648,;UGP2,downstream_gene_variant,,ENST00000491621,;UGP2,downstream_gene_variant,,ENST00000488245,;UGP2,downstream_gene_variant,,ENST00000475462,;UGP2,downstream_gene_variant,,ENST00000472047,;VPS54,downstream_gene_variant,,ENST00000409558,;UGP2,downstream_gene_variant,,ENST00000497883,;ACA59,upstream_gene_variant,,ENST00000515966,;UGP2,downstream_gene_variant,,ENST00000495020,;UGP2,downstream_gene_variant,,ENST00000487469,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,downstream_gene_variant,,ENST00000497510,;UGP2,downstream_gene_variant,,ENST00000467999,;UGP2,downstream_gene_variant,,ENST00000494536,;UGP2,downstream_gene_variant,,ENST00000483461,;UGP2,downstream_gene_variant,,ENST00000493222,;UGP2,downstream_gene_variant,,ENST00000466642,;UGP2,downstream_gene_variant,,ENST00000467400,;UGP2,downstream_gene_variant,,ENST00000496334,;UGP2,downstream_gene_variant,,ENST00000487042,;	1728	173	180	SUCCESS
VPS54	51542	.	GRCh37	2	64176272	64176272	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	55	0	ENST00000272322.4:c.1036T>C	p.Leu346=	p.L346=	ENST00000272322		346	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33208.1	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAATTCAC	NONE	.	.	hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965,Pfam_domain:PF10475	.	.	ENSP00000272322	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,synonymous_variant,p.%3D,ENST00000354504,;VPS54,synonymous_variant,p.%3D,ENST00000272322,;VPS54,synonymous_variant,p.%3D,ENST00000409558,;	1191	55	54	SUCCESS
ZNF638	27332	.	GRCh37	2	71576746	71576746	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	33	112	0	ENST00000264447.4:c.663del	p.Asp222IlefsTer36	p.D222Ifs*36	ENST00000264447	NM_001014972.2	221	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS1917.1	662	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACAGAAGATC	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	deletion	ZNF638,frameshift_variant,p.Asp222IlefsTer36,ENST00000409544,;ZNF638,frameshift_variant,p.Asp222IlefsTer36,ENST00000264447,;ZNF638,frameshift_variant,p.Asp222IlefsTer36,ENST00000377802,;ZNF638,frameshift_variant,p.Asp222IlefsTer36,ENST00000355812,;ZNF638,downstream_gene_variant,,ENST00000417778,;ZNF638,downstream_gene_variant,,ENST00000437658,;ZNF638,downstream_gene_variant,,ENST00000454122,;ZNF638,downstream_gene_variant,,ENST00000455226,;ZNF638,downstream_gene_variant,,ENST00000454278,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000466975,;ZNF638,intron_variant,,ENST00000464375,;ZNF638,intron_variant,,ENST00000466330,;ZNF638,intron_variant,,ENST00000494621,;ZNF638,intron_variant,,ENST00000475743,;ZNF638,downstream_gene_variant,,ENST00000487707,;	1292	112	165	SUCCESS
NUP210	23225	.	GRCh37	3	13413350	13413350	+	synonymous_variant	Silent	SNP	C	C	A	rs767996831	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	71	211	1	ENST00000254508.5:c.1770G>T	p.Val590=	p.V590=	ENST00000254508	NM_024923.3	590	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33704.1	1770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACACACC	NONE	byFrequency	.	hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	.	.	ENSP00000254508	.	13/40	.	.	.	.	.	.	.	.	rs767996831	13/40	PASS	ENST00000254508	Transcript	.	.	ENSG00000132182	30052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO210_HUMAN	NUP210	HGNC	.	.	UPI00001600AF	SNV	NUP210,synonymous_variant,p.%3D,ENST00000254508,;NUP210,non_coding_transcript_exon_variant,,ENST00000420141,;	1853	213	198	SUCCESS
ATR	545	.	GRCh37	3	142188996	142188997	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	100	26	84	0	ENST00000350721.4:c.6250dup	p.Tyr2084LeufsTer13	p.Y2084Lfs*13	ENST00000350721	NM_001184.3	2084	tat/tTat	0	.	.	.	.	.	A	Y/LX	protein_coding	YES	CCDS3124.1	6250-6251	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGATATATG	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Pfam_domain:PF02259,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	37/47	.	.	.	.	.	.	.	.	.	37/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	insertion	ATR,frameshift_variant,p.Tyr2020LeufsTer13,ENST00000383101,;ATR,frameshift_variant,p.Tyr2084LeufsTer13,ENST00000350721,;ATR,upstream_gene_variant,,ENST00000513291,;RP11-383G6.3,intron_variant,,ENST00000460977,;	6372-6373	84	126	SUCCESS
GOLIM4	27333	.	GRCh37	3	167750442	167750442	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760076177	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	45	119	0	ENST00000470487.1:c.1042A>G	p.Met348Val	p.M348V	ENST00000470487	NM_014498.3	348	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS3204.1	1042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATTTCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22909:SF22,hmmpanther:PTHR22909	.	.	ENSP00000417354	.	9/16	.	.	.	.	.	.	.	.	rs760076177	9/16	PASS	ENST00000470487	Transcript	.	.	ENSG00000173905	15448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	GOLI4_HUMAN	GOLIM4	HGNC	.	.	UPI0000073BF8	SNV	GOLIM4,missense_variant,p.Met348Val,ENST00000470487,;GOLIM4,missense_variant,p.Met320Val,ENST00000309027,;	1732	119	249	SUCCESS
PCYT1A	5130	.	GRCh37	3	195997368	195997368	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	32	130	0	ENST00000292823.2:c.35G>A	p.Arg12Lys	p.R12K	ENST00000292823	NM_005017.2	12	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS3315.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCTTGCA	NONE	.	.	hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF19	.	.	ENSP00000292823	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000292823	Transcript	.	.	ENSG00000161217	8754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.15)	.	PCY1A_HUMAN	PCYT1A	HGNC	C9JVS0_HUMAN,C9JPY0_HUMAN,C9J050_HUMAN	.	UPI000000DB72	SNV	PCYT1A,missense_variant,p.Arg12Lys,ENST00000419333,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000441879,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000431016,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000412869,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000443555,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000411591,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000292823,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000491544,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000438634,;PCYT1A,missense_variant,p.Arg12Lys,ENST00000444822,;RP11-447L10.1,3_prime_UTR_variant,,ENST00000431391,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000460677,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000473978,;	208	130	178	SUCCESS
CELSR3	1951	.	GRCh37	3	48680218	48680218	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	34	81	0	ENST00000164024.4:c.8506T>C	p.Ser2836Pro	p.S2836P	ENST00000164024	NM_001407.2	2836	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS2775.1	8506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGAGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	.	ENSP00000164024	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Ser2841Pro,ENST00000544264,;CELSR3,missense_variant,p.Ser2836Pro,ENST00000164024,;MIR4793,downstream_gene_variant,,ENST00000577502,;CELSR3,non_coding_transcript_exon_variant,,ENST00000461362,;CELSR3,non_coding_transcript_exon_variant,,ENST00000498057,;CELSR3,upstream_gene_variant,,ENST00000470999,;	8787	81	57	SUCCESS
PROK2	60675	.	GRCh37	3	71830662	71830662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	72	212	0	ENST00000295619.3:c.178C>A	p.Pro60Thr	p.P60T	ENST00000295619	NM_001126128.1	60	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46868.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGGTGTGC	NONE	.	.	hmmpanther:PTHR18821:SF3,hmmpanther:PTHR18821,Gene3D:2.10.80.10,Pfam_domain:PF06607,Superfamily_domains:SSF57190	.	.	ENSP00000295619	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295619	Transcript	.	.	ENSG00000163421	18455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PROK2_HUMAN	PROK2	HGNC	.	.	UPI0000132219	SNV	PROK2,missense_variant,p.Pro60Thr,ENST00000295619,;PROK2,missense_variant,p.Pro60Thr,ENST00000353065,;	187	212	145	SUCCESS
CNTN3	5067	.	GRCh37	3	74548904	74548904	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	22	63	0	ENST00000263665.6:c.88A>G	p.Lys30Glu	p.K30E	ENST00000263665	NM_020872.1	30	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS33790.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGATAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF54,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000263665	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000263665	Transcript	.	.	ENSG00000113805	2173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.13)	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	SNV	CNTN3,missense_variant,p.Lys30Glu,ENST00000263665,;	116	63	38	SUCCESS
NR3C2	4306	.	GRCh37	4	149115896	149115896	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	34	0	ENST00000344721.4:c.2014+1G>T		p.X672_splice	ENST00000344721		672		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3772.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACCTCCT	NONE	.	.	.	.	.	ENSP00000350815	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358102	Transcript	1	.	ENSG00000151623	7979	.	.	HIGH	4/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NR3C2	HGNC	Q4W5E8_HUMAN,B0ZBF6_HUMAN	.	UPI000013DC6D	SNV	NR3C2,splice_donor_variant,,ENST00000358102,;NR3C2,splice_donor_variant,,ENST00000344721,;NR3C2,splice_donor_variant,,ENST00000355292,;NR3C2,splice_donor_variant,,ENST00000512865,;NR3C2,splice_donor_variant,,ENST00000511528,;RP11-76G10.1,intron_variant,,ENST00000514843,;NR3C2,splice_donor_variant,,ENST00000503313,;NR3C2,downstream_gene_variant,,ENST00000504753,;NR3C2,splice_donor_variant,,ENST00000342437,;	.	34	15	SUCCESS
APC	324	.	GRCh37	5	112175951	112175952	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs587783031	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	156	58	264	0	ENST00000257430.4:c.4666dup	p.Thr1556AsnfsTer3	p.T1556Nfs*3	ENST00000257430	NM_000038.5	1554	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS4107.1	4660-4661	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCAGAAAAA	CODON|p.T1556fs*3|c.4660_4661insA|55,BUFFER|p.K1551E|c.4651A>G|3,BUFFER|p.E1552*|c.4654G>T|10,BUFFER|p.T1556fs*3|c.4662_4663insA|29,BUFFER|p.K1555fs*3|c.4665_4666delAA|9,BUFFER|p.T1556fs*3|c.4665_4666insA|46,BUFFER|p.T1556fs*9|c.4666delA|4,BUFFER|p.T1556fs*3|c.4666_4667insA|108,BUFFER|p.I1557fs*2|c.4667_4668insC|6,BUFFER|p.I1557fs*2|c.4668_4669insA|3,BUFFER|p.I1557fs*1|c.4669_4670delAT|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	COSM19695,COSM19718,COSM86020	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	1,1,1	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	insertion	APC,frameshift_variant,p.Thr1556AsnfsTer3,ENST00000257430,;APC,frameshift_variant,p.Thr1556AsnfsTer3,ENST00000457016,;APC,frameshift_variant,p.Thr1556AsnfsTer3,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000514164,;	5040-5041	264	214	SUCCESS
PCDHB13	56123	.	GRCh37	5	140595273	140595273	+	synonymous_variant	Silent	SNP	G	G	T	rs34902137	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	182	182	1	ENST00000341948.4:c.1578G>T	p.Gly526=	p.G526=	ENST00000341948	NM_018933.2	526	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4255.1	1578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGTTCCA	NONE	suspect|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	rs34902137	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,synonymous_variant,p.%3D,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	1765	183	276	SUCCESS
PDZD2	23037	.	GRCh37	5	32087361	32087361	+	synonymous_variant	Silent	SNP	A	A	G	rs1218627314	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	277	46	177	0	ENST00000438447.1:c.3807A>G	p.Ala1269=	p.A1269=	ENST00000438447		1269	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS34137.1	3807	RADIA|MUTECT|MUSE	.	CCTGCATCGCC	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	.	.	ENSP00000402033	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,synonymous_variant,p.%3D,ENST00000438447,;PDZD2,synonymous_variant,p.%3D,ENST00000282493,;PDZD2,downstream_gene_variant,,ENST00000503961,;	4195	177	324	SUCCESS
CAST	831	.	GRCh37	5	96062545	96062546	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1324899428	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	155	0	ENST00000341926.3:c.75dup	p.His26ThrfsTer11	p.H26Tfs*11	ENST00000341926		23	-/A	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54882.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAAGAAAAA	NONE	.	.	.	.	.	ENSP00000379157	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395812	Transcript	.	.	ENSG00000153113	1515	6	.	MODIFIER	4/29	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ICAL_HUMAN	CAST	HGNC	E7EQ12_HUMAN	.	UPI0000DA4C59	insertion	CAST,frameshift_variant,p.His109ThrfsTer11,ENST00000395813,;CAST,frameshift_variant,p.His12ThrfsTer11,ENST00000511049,;CAST,frameshift_variant,p.His109ThrfsTer11,ENST00000421689,;CAST,frameshift_variant,p.His94ThrfsTer11,ENST00000506811,;CAST,frameshift_variant,p.His109ThrfsTer11,ENST00000508830,;CAST,frameshift_variant,p.His104ThrfsTer11,ENST00000505143,;CAST,frameshift_variant,p.His12ThrfsTer11,ENST00000511782,;CAST,frameshift_variant,p.His26ThrfsTer11,ENST00000510156,;CAST,frameshift_variant,p.His109ThrfsTer11,ENST00000359176,;CAST,frameshift_variant,p.His26ThrfsTer11,ENST00000341926,;CAST,frameshift_variant,p.His26ThrfsTer11,ENST00000338252,;CAST,frameshift_variant,p.His94ThrfsTer11,ENST00000514055,;CAST,intron_variant,,ENST00000508608,;CAST,intron_variant,,ENST00000512620,;CAST,intron_variant,,ENST00000325674,;CAST,intron_variant,,ENST00000508197,;CAST,intron_variant,,ENST00000514845,;CAST,intron_variant,,ENST00000510756,;CAST,intron_variant,,ENST00000511097,;CAST,intron_variant,,ENST00000509903,;CAST,intron_variant,,ENST00000395812,;CAST,intron_variant,,ENST00000309190,;CAST,intron_variant,,ENST00000504465,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,upstream_gene_variant,,ENST00000348386,;CAST,frameshift_variant,p.His26ThrfsTer11,ENST00000508117,;CAST,intron_variant,,ENST00000513666,;CAST,upstream_gene_variant,,ENST00000504532,;	.	155	111	SUCCESS
EDN1	1906	.	GRCh37	6	12294631	12294631	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1316232630	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	141	462	1	ENST00000379375.5:c.527A>C	p.Gln176Pro	p.Q176P	ENST00000379375	NM_001955.4	176	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS4522.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAAACCA	NONE	.	.	hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF9	.	.	ENSP00000368683	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000379375	Transcript	.	.	ENSG00000078401	3176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated_low_confidence(0.21)	.	EDN1_HUMAN	EDN1	HGNC	Q6FH53_HUMAN	.	UPI000012A217	SNV	EDN1,missense_variant,p.Gln176Pro,ENST00000379375,;	794	463	312	SUCCESS
KIAA1244	0	.	GRCh37	6	138611075	138611075	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766579661	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	54	186	0	ENST00000251691.4:c.3017A>G	p.His1006Arg	p.H1006R	ENST00000251691	NM_020340.4	1006	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS5189.2	3017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCACAACC	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	18/34	.	.	.	.	.	.	.	.	rs766579661	18/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.His1006Arg,ENST00000251691,;	3183	186	192	SUCCESS
PHACTR2	9749	.	GRCh37	6	144086750	144086750	+	synonymous_variant	Silent	SNP	C	C	T	rs200488499	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	45	119	0	ENST00000427704.2:c.1014C>T	p.Pro338=	p.P338=	ENST00000427704	NM_014721.2	338	ccC/ccT	0	.	G:0	.	G:0	.	T	P	protein_coding	YES	CCDS47493.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCCCTCT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12751:SF5,hmmpanther:PTHR12751	G:0	.	ENSP00000417038	G:0.001	6/13	.	.	.	.	.	.	.	.	rs200488499	6/13	PASS	ENST00000440869	Transcript	.	G:0.0002	ENSG00000112419	20956	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PHAR2_HUMAN	PHACTR2	HGNC	.	.	UPI000020E355	SNV	PHACTR2,synonymous_variant,p.%3D,ENST00000427704,;PHACTR2,synonymous_variant,p.%3D,ENST00000440869,;PHACTR2,synonymous_variant,p.%3D,ENST00000305766,;PHACTR2,synonymous_variant,p.%3D,ENST00000367584,;PHACTR2,synonymous_variant,p.%3D,ENST00000367582,;PHACTR2,downstream_gene_variant,,ENST00000451827,;PHACTR2,downstream_gene_variant,,ENST00000542769,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000420771,;	1246	119	101	SUCCESS
DNAH8	1769	.	GRCh37	6	38885133	38885133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	87	0	ENST00000359357.3:c.9608T>C	p.Met3203Thr	p.M3203T	ENST00000359357		3203	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	.	9608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTATGGATC	NONE	.	.	Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	67/91	.	.	.	.	.	.	.	.	.	67/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Met3203Thr,ENST00000359357,;DNAH8,missense_variant,p.Met3408Thr,ENST00000327475,;DNAH8,missense_variant,p.Met3167Thr,ENST00000441566,;DNAH8,missense_variant,p.Met3420Thr,ENST00000449981,;	9862	87	92	SUCCESS
SLC29A1	2030	.	GRCh37	6	44197363	44197363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	64	0	ENST00000371708.1:c.149C>A	p.Ser50Tyr	p.S50Y	ENST00000371708		50	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS4908.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTCCTTGG	NONE	.	.	hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF9,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379	.	.	ENSP00000377424	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000393841	Transcript	.	.	ENSG00000112759	11003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.463)	.	deleterious(0)	.	S29A1_HUMAN	SLC29A1	HGNC	C8KHU2_HUMAN,C8KHU1_HUMAN	.	UPI0000001BCC	SNV	SLC29A1,missense_variant,p.Ser50Tyr,ENST00000371740,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000371731,;SLC29A1,missense_variant,p.Ser129Tyr,ENST00000313248,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000371713,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000371755,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000393844,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000371724,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000393841,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000427851,;SLC29A1,missense_variant,p.Ser50Tyr,ENST00000371708,;SLC29A1,non_coding_transcript_exon_variant,,ENST00000472176,;	640	64	71	SUCCESS
RREB1	6239	.	GRCh37	6	7230408	7230408	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	94	0	ENST00000349384.6:c.2076G>T	p.Thr692=	p.T692=	ENST00000349384	NM_001003698.3	692	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34335.1	2076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACGCACAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000369270	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000379938	Transcript	.	.	ENSG00000124782	10449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RREB1_HUMAN	RREB1	HGNC	C9JU34_HUMAN,C9JPJ6_HUMAN,C9JE09_HUMAN	.	UPI000020E496	SNV	RREB1,synonymous_variant,p.%3D,ENST00000349384,;RREB1,synonymous_variant,p.%3D,ENST00000334984,;RREB1,synonymous_variant,p.%3D,ENST00000379938,;RREB1,synonymous_variant,p.%3D,ENST00000483150,;RREB1,synonymous_variant,p.%3D,ENST00000379933,;	2613	94	49	SUCCESS
COG5	10466	.	GRCh37	7	106898762	106898762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	101	0	ENST00000347053.3:c.1735G>T	p.Ala579Ser	p.A579S	ENST00000347053	NM_181733.2	579	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5742.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCCACAT	NONE	.	.	hmmpanther:PTHR13228:SF3,hmmpanther:PTHR13228	.	.	ENSP00000297135	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000297135	Transcript	.	.	ENSG00000164597	14857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.45)	.	COG5_HUMAN	COG5	HGNC	U3KQU7_HUMAN,B3KMW0_HUMAN	.	UPI0000246D05	SNV	COG5,missense_variant,p.Ala579Ser,ENST00000347053,;COG5,missense_variant,p.Ala579Ser,ENST00000393603,;COG5,missense_variant,p.Ala579Ser,ENST00000297135,;COG5,non_coding_transcript_exon_variant,,ENST00000468350,;COG5,non_coding_transcript_exon_variant,,ENST00000462342,;	2260	101	109	SUCCESS
ACTR3B	57180	.	GRCh37	7	152511709	152511709	+	synonymous_variant	Silent	SNP	A	A	G	rs756388974	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	77	296	1	ENST00000256001.8:c.411A>G	p.Pro137=	p.P137=	ENST00000256001	NM_020445.5	137	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5934.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCAGGACT	BUFFER|p.V136V|c.408A>T|13	.	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937:SF170,hmmpanther:PTHR11937	.	.	ENSP00000256001	.	5/12	.	.	.	.	.	.	.	.	rs756388974	5/12	PASS	ENST00000256001	Transcript	.	.	ENSG00000133627	17256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARP3B_HUMAN	ACTR3B	HGNC	C9J580_HUMAN,B3KM55_HUMAN	.	UPI0000073AC7	SNV	ACTR3B,synonymous_variant,p.%3D,ENST00000537264,;ACTR3B,synonymous_variant,p.%3D,ENST00000397282,;ACTR3B,synonymous_variant,p.%3D,ENST00000377776,;ACTR3B,synonymous_variant,p.%3D,ENST00000256001,;ACTR3B,non_coding_transcript_exon_variant,,ENST00000488782,;ACTR3B,non_coding_transcript_exon_variant,,ENST00000479402,;	545	297	281	SUCCESS
AUTS2	26053	.	GRCh37	7	70255636	70255636	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371317370	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	49	117	0	ENST00000342771.4:c.3434G>A	p.Arg1145Gln	p.R1145Q	ENST00000342771	NM_015570.2	1145	cGg/cAg	0	A:0.0005	.	.	.	.	A	R/Q	protein_coding	YES	CCDS5539.1	3434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCGGGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14429:SF5,hmmpanther:PTHR14429	.	A:0.0002	ENSP00000344087	.	19/19	.	.	.	.	.	.	.	.	rs371317370	19/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,missense_variant,p.Arg1145Gln,ENST00000342771,;AUTS2,missense_variant,p.Arg1121Gln,ENST00000406775,;AUTS2,downstream_gene_variant,,ENST00000418686,;AUTS2,downstream_gene_variant,,ENST00000439256,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000449547,;	3755	117	131	SUCCESS
PON3	5446	.	GRCh37	7	95019498	95019498	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	104	0	ENST00000265627.5:c.169A>G	p.Ile57Val	p.I57V	ENST00000265627	NM_000940.2	57	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5639.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATATCAA	NONE	.	.	hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF6,Gene3D:2.120.10.30,Superfamily_domains:SSF63829,Prints_domain:PR01785	.	.	ENSP00000265627	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000265627	Transcript	.	.	ENSG00000105852	9206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.17)	.	PON3_HUMAN	PON3	HGNC	.	.	UPI00000743F1	SNV	PON3,missense_variant,p.Ile57Val,ENST00000265627,;PON3,missense_variant,p.Ile57Val,ENST00000451904,;PON3,missense_variant,p.Ile57Val,ENST00000427422,;PON1,intron_variant,,ENST00000542556,;PON3,non_coding_transcript_exon_variant,,ENST00000475439,;PON3,3_prime_UTR_variant,,ENST00000418617,;PON3,3_prime_UTR_variant,,ENST00000442770,;PON3,non_coding_transcript_exon_variant,,ENST00000482624,;PON3,intron_variant,,ENST00000456855,;	180	104	103	SUCCESS
LRP12	29967	.	GRCh37	8	105503525	105503525	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	96	103	0	ENST00000276654.5:c.1956T>C	p.Ser652=	p.S652=	ENST00000276654	NM_013437.4	652	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6303.1	1956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCAGACTC	BUFFER|p.V650M|c.1948G>A|3	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216	.	.	ENSP00000276654	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,synonymous_variant,p.%3D,ENST00000276654,;LRP12,synonymous_variant,p.%3D,ENST00000424843,;LRP12,downstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000522046,;	2065	103	154	SUCCESS
KLHL38	340359	.	GRCh37	8	124664210	124664210	+	synonymous_variant	Silent	SNP	C	C	G	rs748680546	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	67	116	0	ENST00000325995.7:c.957G>C	p.Pro319=	p.P319=	ENST00000325995	NM_001081675.2	319	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS43766.1	957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTCGGGAG	NONE	byFrequency	.	Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412	.	.	ENSP00000321475	.	1/3	.	.	.	.	.	.	.	.	rs748680546	1/3	PASS	ENST00000325995	Transcript	.	.	ENSG00000175946	34435	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH38_HUMAN	KLHL38	HGNC	.	.	UPI00001D82D1	SNV	KLHL38,synonymous_variant,p.%3D,ENST00000325995,;CTD-2552K11.2,intron_variant,,ENST00000524355,;	981	116	174	SUCCESS
PHF20L1	51105	.	GRCh37	8	133806672	133806673	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	261	92	161	0	ENST00000395386.2:c.106dup	p.Ile36AsnfsTer2	p.I36Nfs*2	ENST00000395386	NM_016018.4	34	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS6367.2	100-101	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATTGAAAAA	NONE	.	.	Superfamily_domains:SSF63748,SMART_domains:SM00743,SMART_domains:SM00333,Gene3D:2.30.30.160,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26	.	.	ENSP00000378784	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000395386	Transcript	.	.	ENSG00000129292	24280	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P20L1_HUMAN	PHF20L1	HGNC	E5RK91_HUMAN,B3KWX5_HUMAN	.	UPI0000DBD7AF	insertion	PHF20L1,frameshift_variant,p.Ile36AsnfsTer2,ENST00000395390,;PHF20L1,frameshift_variant,p.Ile36AsnfsTer2,ENST00000395376,;PHF20L1,frameshift_variant,p.Ile36AsnfsTer2,ENST00000395379,;PHF20L1,frameshift_variant,p.Ile36AsnfsTer2,ENST00000337920,;PHF20L1,frameshift_variant,p.Ile36AsnfsTer2,ENST00000395386,;PHF20L1,5_prime_UTR_variant,,ENST00000220847,;PHF20L1,5_prime_UTR_variant,,ENST00000522580,;PHF20L1,frameshift_variant,p.Ile36AsnfsTer2,ENST00000486199,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000395383,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000315808,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000361997,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000485595,;PHF20L1,upstream_gene_variant,,ENST00000521038,;	399-400	161	353	SUCCESS
PUF60	22827	.	GRCh37	8	144900554	144900554	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	110	104	0	ENST00000526683.1:c.499A>G	p.Met167Val	p.M167V	ENST00000526683	NM_001271098.1	167	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS47934.1	499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATGGTGA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF246,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01645,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000434359	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000526683	Transcript	.	.	ENSG00000179950	17042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.559)	.	tolerated(0.09)	.	PUF60_HUMAN	PUF60	HGNC	.	.	UPI00000713CF	SNV	PUF60,missense_variant,p.Met187Val,ENST00000529999,;PUF60,missense_variant,p.Met150Val,ENST00000349157,;PUF60,missense_variant,p.Met107Val,ENST00000313352,;PUF60,missense_variant,p.Met121Val,ENST00000527197,;PUF60,missense_variant,p.Met167Val,ENST00000526683,;PUF60,missense_variant,p.Met124Val,ENST00000453551,;PUF60,missense_variant,p.Met138Val,ENST00000456095,;PUF60,missense_variant,p.Met32Val,ENST00000532884,;PUF60,missense_variant,p.Met187Val,ENST00000531897,;PUF60,missense_variant,p.Met165Val,ENST00000527744,;PUF60,missense_variant,p.Met204Val,ENST00000533162,;PUF60,missense_variant,p.Met149Val,ENST00000526459,;SCRIB,upstream_gene_variant,,ENST00000377533,;SCRIB,upstream_gene_variant,,ENST00000356994,;SCRIB,upstream_gene_variant,,ENST00000320476,;PUF60,non_coding_transcript_exon_variant,,ENST00000531951,;PUF60,non_coding_transcript_exon_variant,,ENST00000524570,;PUF60,non_coding_transcript_exon_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000533362,;PUF60,non_coding_transcript_exon_variant,,ENST00000528320,;PUF60,non_coding_transcript_exon_variant,,ENST00000529693,;PUF60,non_coding_transcript_exon_variant,,ENST00000527584,;PUF60,downstream_gene_variant,,ENST00000531995,;PUF60,downstream_gene_variant,,ENST00000526151,;PUF60,downstream_gene_variant,,ENST00000532127,;	1055	104	183	SUCCESS
TMEM68	137695	.	GRCh37	8	56668880	56668880	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	103	0	ENST00000434581.2:c.416A>G	p.Tyr139Cys	p.Y139C	ENST00000434581	NM_001286657.1	139	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6161.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATAGTAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22753,Pfam_domain:PF01553,Superfamily_domains:0039877	.	.	ENSP00000335416	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000334667	Transcript	.	.	ENSG00000167904	26510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMM68_HUMAN	TMEM68	HGNC	E5RJ96_HUMAN,E5RHI6_HUMAN,E5RGT2_HUMAN	.	UPI00000732CD	SNV	TMEM68,missense_variant,p.Tyr25Cys,ENST00000519780,;TMEM68,missense_variant,p.Tyr25Cys,ENST00000519784,;TMEM68,missense_variant,p.Tyr139Cys,ENST00000334667,;TMEM68,missense_variant,p.Tyr139Cys,ENST00000522090,;TMEM68,missense_variant,p.Tyr25Cys,ENST00000523073,;TMEM68,missense_variant,p.Tyr139Cys,ENST00000523423,;TMEM68,missense_variant,p.Tyr139Cys,ENST00000434581,;TMEM68,intron_variant,,ENST00000522030,;TMEM68,downstream_gene_variant,,ENST00000520414,;TMEM68,downstream_gene_variant,,ENST00000521229,;TMEM68,missense_variant,p.Tyr22Cys,ENST00000517576,;TMEM68,missense_variant,p.Tyr78Cys,ENST00000520061,;TMEM68,non_coding_transcript_exon_variant,,ENST00000524121,;	669	103	84	SUCCESS
TMEM70	54968	.	GRCh37	8	74888508	74888508	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	78	88	0	ENST00000312184.5:c.-9A>T		p.*3*	ENST00000312184	NM_001040613.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6215.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCACCCGC	NONE	.	.	.	.	.	ENSP00000312599	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000312184	Transcript	1	.	ENSG00000175606	26050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM70_HUMAN	TMEM70	HGNC	L0R5D5_HUMAN	.	UPI00001BBFAB	SNV	TMEM70,5_prime_UTR_variant,,ENST00000312184,;TMEM70,5_prime_UTR_variant,,ENST00000517439,;TCEB1,upstream_gene_variant,,ENST00000519082,;TCEB1,upstream_gene_variant,,ENST00000522337,;TCEB1,upstream_gene_variant,,ENST00000520210,;TCEB1,upstream_gene_variant,,ENST00000602840,;TCEB1,upstream_gene_variant,,ENST00000523815,;TCEB1,upstream_gene_variant,,ENST00000284811,;TCEB1,upstream_gene_variant,,ENST00000520242,;TCEB1,upstream_gene_variant,,ENST00000518127,;Y_RNA,downstream_gene_variant,,ENST00000365350,;TMEM70,intron_variant,,ENST00000520167,;TMEM70,intron_variant,,ENST00000523794,;TMEM70,5_prime_UTR_variant,,ENST00000416961,;TMEM70,non_coding_transcript_exon_variant,,ENST00000517614,;TMEM70,upstream_gene_variant,,ENST00000519551,;	65	88	132	SUCCESS
CNBD1	168975	.	GRCh37	8	87951908	87951908	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	570	132	394	0	ENST00000518476.1:c.357T>C	p.His119=	p.H119=	ENST00000518476	NM_173538.2	119	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS55259.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACATGGTGG	NONE	.	.	hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF124,Superfamily_domains:SSF51206	.	.	ENSP00000430073	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000518476	Transcript	.	.	ENSG00000176571	26663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNBD1_HUMAN	CNBD1	HGNC	.	.	UPI000006EA68	SNV	CNBD1,synonymous_variant,p.%3D,ENST00000518476,;CNBD1,non_coding_transcript_exon_variant,,ENST00000517748,;	408	394	702	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88885852	88885852	+	synonymous_variant	Silent	SNP	C	C	A	rs778714529	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	32	103	0	ENST00000319675.3:c.348G>T	p.Pro116=	p.P116=	ENST00000319675	NM_152418.3	116	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6245.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGCGGGTA	NONE	.	.	hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	rs778714529,COSM2790027	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	SNV	DCAF4L2,synonymous_variant,p.%3D,ENST00000319675,;	445	103	161	SUCCESS
HRSP12	0	.	GRCh37	8	99129420	99129420	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	41	0	ENST00000254878.3:c.-96G>C		p.*32*	ENST00000254878	NM_005836.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6276.1	.	MUTECT|MUSE	.	CGCCTCTGCCC	NONE	.	.	.	.	.	ENSP00000254878	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000254878	Transcript	.	.	ENSG00000132541	16897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UK114_HUMAN	HRSP12	HGNC	.	.	UPI0000137B27	SNV	HRSP12,5_prime_UTR_variant,,ENST00000254878,;HRSP12,upstream_gene_variant,,ENST00000521560,;POP1,upstream_gene_variant,,ENST00000401707,;POP1,upstream_gene_variant,,ENST00000522319,;HRSP12,upstream_gene_variant,,ENST00000520507,;POP1,upstream_gene_variant,,ENST00000349693,;HRSP12,upstream_gene_variant,,ENST00000519155,;HRSP12,upstream_gene_variant,,ENST00000522791,;	50	41	54	SUCCESS
RAPGEF1	2889	.	GRCh37	9	134477527	134477527	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1271567352	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	52	0	ENST00000372189.3:c.1864G>C	p.Ala622Pro	p.A622P	ENST00000372189	NM_005312.2	622	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS48048.1	1918	RADIA|MUTECT|MUSE	.	CCCAGCCGGTG	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40	.	.	ENSP00000361264	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000372190	Transcript	.	.	ENSG00000107263	4568	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.15)	.	RPGF1_HUMAN	RAPGEF1	HGNC	Q5JUE5_HUMAN	.	UPI0000074689	SNV	RAPGEF1,missense_variant,p.Ala50Pro,ENST00000414781,;RAPGEF1,missense_variant,p.Ala640Pro,ENST00000372190,;RAPGEF1,missense_variant,p.Ala220Pro,ENST00000419442,;RAPGEF1,missense_variant,p.Ala639Pro,ENST00000372195,;RAPGEF1,missense_variant,p.Ala622Pro,ENST00000372189,;	2077	52	57	SUCCESS
SDCCAG3	0	.	GRCh37	9	139301664	139301664	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs527894531	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	113	0	ENST00000357365.3:c.752A>G	p.Asp251Gly	p.D251G	ENST00000357365	NM_001039707.1	251	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS43904.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGTCTGCG	NONE	.	.	hmmpanther:PTHR31259	.	.	ENSP00000349929	.	5/10	.	.	.	.	.	.	.	.	rs527894531	5/10	PASS	ENST00000357365	Transcript	.	.	ENSG00000165689	10667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.03)	.	SDCG3_HUMAN	SDCCAG3	HGNC	.	.	UPI00006C511A	SNV	SDCCAG3,missense_variant,p.Asp228Gly,ENST00000298537,;SDCCAG3,missense_variant,p.Asp251Gly,ENST00000357365,;SDCCAG3,missense_variant,p.Asp178Gly,ENST00000371725,;SDCCAG3,missense_variant,p.Asp201Gly,ENST00000371723,;SDCCAG3,downstream_gene_variant,,ENST00000446833,;SDCCAG3,upstream_gene_variant,,ENST00000417512,;PMPCA,upstream_gene_variant,,ENST00000371717,;PMPCA,upstream_gene_variant,,ENST00000399219,;PMPCA,upstream_gene_variant,,ENST00000371720,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000468963,;SDCCAG3,upstream_gene_variant,,ENST00000466579,;SDCCAG3,upstream_gene_variant,,ENST00000486441,;SDCCAG3,upstream_gene_variant,,ENST00000461693,;SDCCAG3,upstream_gene_variant,,ENST00000481114,;	882	113	113	SUCCESS
PSIP1	11168	.	GRCh37	9	15469957	15469957	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	38	0	ENST00000380733.4:c.1012A>T	p.Lys338Ter	p.K338*	ENST00000380733		338	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS6479.1	1012	RADIA|MUTECT|MUSE	.	TTTCTTAACTT	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01503,hmmpanther:PTHR12550	.	.	ENSP00000370109	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000380733	Transcript	.	.	ENSG00000164985	9527	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSIP1_HUMAN	PSIP1	HGNC	Q8N4N4_HUMAN	.	UPI0000073FC4	SNV	PSIP1,stop_gained,p.Lys338Ter,ENST00000380738,;PSIP1,stop_gained,p.Lys338Ter,ENST00000380733,;PSIP1,downstream_gene_variant,,ENST00000397519,;PSIP1,downstream_gene_variant,,ENST00000380716,;PSIP1,downstream_gene_variant,,ENST00000380715,;PSIP1,downstream_gene_variant,,ENST00000481862,;PSIP1,downstream_gene_variant,,ENST00000495873,;SNAPC3,downstream_gene_variant,,ENST00000467062,;	1356	38	13	SUCCESS
DENND4C	55667	.	GRCh37	9	19316742	19316742	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771194757	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	114	0	ENST00000602925.1:c.1712C>T	p.Ala571Val	p.A571V	ENST00000602925	NM_017925.5	571	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6491.3	1712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGCGTCTA	NONE	byFrequency	.	PROSITE_profiles:PS50947,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17,Pfam_domain:PF03455,SMART_domains:SM00801	.	.	ENSP00000473565	.	12/32	.	.	.	.	.	.	.	.	rs771194757,COSM1107621	12/32	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.956)	.	deleterious(0)	0,1	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,missense_variant,p.Ala335Val,ENST00000380432,;DENND4C,missense_variant,p.Ala571Val,ENST00000434457,;DENND4C,missense_variant,p.Ala571Val,ENST00000602925,;DENND4C,missense_variant,p.Ala344Val,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	2128	114	66	SUCCESS
KANK1	23189	.	GRCh37	9	711598	711598	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	33	114	0	ENST00000382297.2:c.832G>C	p.Glu278Gln	p.E278Q	ENST00000382297	NM_001256877.1	278	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS34976.1	832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGAGGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Glu120Gln,ENST00000382293,;KANK1,missense_variant,p.Glu278Gln,ENST00000382303,;KANK1,missense_variant,p.Glu278Gln,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	1484	114	56	SUCCESS
SPATA31D4	389761	.	GRCh37	9	84549103	84549103	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	42	0	ENST00000419782.2:n.4027A>T		p.*1343*	ENST00000419782				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAACAAGG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000585776,;RP11-383M4.2,upstream_gene_variant,,ENST00000427387,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000341875,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000419782,;	.	42	36	SUCCESS
PRPS1	5631	.	GRCh37	X	106890949	106890949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	100	0	ENST00000372435.4:c.818A>G	p.Asn273Ser	p.N273S	ENST00000372435	NM_002764.3	273	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS14529.1	818	MUTECT|MUSE	.	CACCAATACCA	NONE	.	.	Superfamily_domains:SSF53271,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01251,Pfam_domain:PF14572,hmmpanther:PTHR10210:SF40,hmmpanther:PTHR10210,HAMAP:MF_00583_B	.	.	ENSP00000361512	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000372435	Transcript	.	.	ENSG00000147224	9462	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	PRPS1_HUMAN	PRPS1	HGNC	Q15244_HUMAN,B7ZB02_HUMAN,B4DNL6_HUMAN	.	UPI00000000A5	SNV	PRPS1,missense_variant,p.Asn273Ser,ENST00000543248,;PRPS1,missense_variant,p.Asn173Ser,ENST00000372418,;PRPS1,missense_variant,p.Asn273Ser,ENST00000372435,;PRPS1,missense_variant,p.Asn206Ser,ENST00000372428,;	940	100	90	SUCCESS
ARHGAP6	395	.	GRCh37	X	11316227	11316227	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	82	146	0	ENST00000337414.4:c.589-43400G>C		p.*197*	ENST00000337414	NM_013427.2	36		0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS14145.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCACATT	NONE	.	.	SMART_domains:SM00818,Pfam_domain:PF02948,hmmpanther:PTHR10039,hmmpanther:PTHR10039:SF7	.	.	ENSP00000370088	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000380712	Transcript	.	.	ENSG00000125363	461	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMELX_HUMAN	AMELX	HGNC	B2BY28_HUMAN	.	UPI000002A3B7	SNV	AMELX,stop_gained,p.Ser36Ter,ENST00000380712,;ARHGAP6,intron_variant,,ENST00000380718,;ARHGAP6,intron_variant,,ENST00000337414,;ARHGAP6,intron_variant,,ENST00000380732,;ARHGAP6,intron_variant,,ENST00000380736,;AMELX,intron_variant,,ENST00000380714,;AMELX,intron_variant,,ENST00000348912,;ARHGAP6,intron_variant,,ENST00000413512,;ARHGAP6,intron_variant,,ENST00000495242,;ARHGAP6,intron_variant,,ENST00000489330,;	175	146	200	SUCCESS
TLR8	51311	.	GRCh37	X	12940017	12940017	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	299	216	0	ENST00000218032.6:c.2858G>C	p.Ser953Thr	p.S953T	ENST00000218032	NM_138636.4	953	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS14152.1	2858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGCTGGA	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Pfam_domain:PF01582,Gene3D:3.40.50.10140,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.35)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Ser971Thr,ENST00000311912,;TLR8,missense_variant,p.Ser953Thr,ENST00000218032,;	2945	216	373	SUCCESS
GPR101	83550	.	GRCh37	X	136112559	136112559	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	45	79	0	ENST00000298110.1:c.1275G>A	p.Val425=	p.V425=	ENST00000298110	NM_054021.1	425	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14662.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCACCCA	BUFFER|p.V423M|c.1267G>A|3	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	.	.	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	SNV	GPR101,synonymous_variant,p.%3D,ENST00000298110,;	1275	79	60	SUCCESS
PLXNB3	5365	.	GRCh37	X	153033156	153033156	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781911980	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	68	105	0	ENST00000361971.5:c.874G>T	p.Ala292Ser	p.A292S	ENST00000361971	NM_005393.2	292	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS55536.1	943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCGCCTTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000442736	.	4/37	.	.	.	.	.	.	.	.	rs781911980	4/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.07)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Ala315Ser,ENST00000538966,;PLXNB3,missense_variant,p.Ala292Ser,ENST00000361971,;PLXNB3,intron_variant,,ENST00000538543,;PLXNB3,intron_variant,,ENST00000538776,;PLXNB3,intron_variant,,ENST00000538282,;U52111.14,upstream_gene_variant,,ENST00000416854,;U52111.14,upstream_gene_variant,,ENST00000434284,;	1214	105	90	SUCCESS
TDRD1	56165	.	GRCh37	10	115966040	115966040	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	67	117	0	ENST00000251864.2:c.1335T>A	p.Tyr445Ter	p.Y445*	ENST00000251864	NM_198795.1	445	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS7588.1	1335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATATGGCTT	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4	.	.	ENSP00000251864	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,stop_gained,p.Tyr445Ter,ENST00000369282,;TDRD1,stop_gained,p.Tyr445Ter,ENST00000369281,;TDRD1,stop_gained,p.Tyr445Ter,ENST00000251864,;TDRD1,stop_gained,p.Tyr445Ter,ENST00000369280,;TDRD1,stop_gained,p.Tyr106Ter,ENST00000422662,;	1488	117	93	SUCCESS
SORL1	6653	.	GRCh37	11	121458790	121458790	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	48	0	ENST00000260197.7:c.3876C>A	p.His1292Gln	p.H1292Q	ENST00000260197	NM_003105.5	1292	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS8436.1	3876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTCCAT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000260197	.	28/48	.	.	.	.	.	.	.	.	.	28/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,missense_variant,p.His202Gln,ENST00000534286,;SORL1,missense_variant,p.His236Gln,ENST00000525532,;SORL1,missense_variant,p.His1292Gln,ENST00000260197,;SORL1,missense_variant,p.His138Gln,ENST00000532694,;SORL1,upstream_gene_variant,,ENST00000527934,;	4005	48	52	SUCCESS
NFRKB	4798	.	GRCh37	11	129754739	129754739	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	69	0	ENST00000446488.3:c.643C>T	p.Leu215Phe	p.L215F	ENST00000446488	NM_001143835.1	215	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS8483.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGATCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13052	.	.	ENSP00000436926	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.07)	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	SNV	NFRKB,missense_variant,p.Leu240Phe,ENST00000524794,;NFRKB,missense_variant,p.Leu215Phe,ENST00000446488,;NFRKB,missense_variant,p.Leu215Phe,ENST00000524746,;NFRKB,missense_variant,p.Leu215Phe,ENST00000304521,;NFRKB,missense_variant,p.Leu227Phe,ENST00000531755,;NFRKB,downstream_gene_variant,,ENST00000532225,;NFRKB,downstream_gene_variant,,ENST00000526940,;NFRKB,downstream_gene_variant,,ENST00000529319,;NFRKB,downstream_gene_variant,,ENST00000526884,;NFRKB,3_prime_UTR_variant,,ENST00000530278,;	839	69	63	SUCCESS
OR51A4	401666	.	GRCh37	11	4967515	4967515	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	290	23	531	0	ENST00000380373.2:c.816C>G	p.Leu272=	p.L272=	ENST00000380373	NM_001005329.1	272	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31367.1	816	MUTECT|MUSE	.	TTAATGAGGGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF61,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369731	.	1/1	.	.	.	.	.	.	.	.	COSM3448291	1/1	PASS	ENST00000380373	Transcript	.	.	ENSG00000205497	14795	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	O51A4_HUMAN	OR51A4	HGNC	.	.	UPI0000047195	SNV	OR51A4,synonymous_variant,p.%3D,ENST00000380373,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	842	531	313	SUCCESS
OR5I1	10798	.	GRCh37	11	55703134	55703134	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	135	0	ENST00000301532.3:c.743C>A	p.Thr248Asn	p.T248N	ENST00000301532	NM_006637.1	248	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS7949.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGTCAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000301532	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301532	Transcript	.	.	ENSG00000167825	8347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	OR5I1_HUMAN	OR5I1	HGNC	.	.	UPI00000405D5	SNV	OR5I1,missense_variant,p.Thr248Asn,ENST00000301532,;	743	135	90	SUCCESS
DTX4	23220	.	GRCh37	11	58949569	58949569	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770051308	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	67	0	ENST00000227451.3:c.569C>T	p.Ser190Phe	p.S190F	ENST00000227451	NM_015177.1	190	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS44612.1	569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCTGTC	NONE	byFrequency	.	hmmpanther:PTHR12622:SF5,hmmpanther:PTHR12622,Low_complexity_(Seg):seg	.	.	ENSP00000227451	.	2/9	.	.	.	.	.	.	.	.	rs770051308,COSM689590,COSM689589	2/9	PASS	ENST00000227451	Transcript	.	.	ENSG00000110042	29151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.372)	.	deleterious(0.03)	0,1,1	DTX4_HUMAN	DTX4	HGNC	.	.	UPI00001C1F00	SNV	DTX4,missense_variant,p.Ser190Phe,ENST00000227451,;DTX4,missense_variant,p.Ser84Phe,ENST00000532982,;DTX4,upstream_gene_variant,,ENST00000531902,;	673	67	34	SUCCESS
SCYL1	57410	.	GRCh37	11	65302729	65302729	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	89	0	ENST00000270176.5:c.1262A>C	p.Glu421Ala	p.E421A	ENST00000270176	NM_020680.3	421	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS41672.1	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGAGGCCA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984	.	.	ENSP00000270176	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000270176	Transcript	.	.	ENSG00000142186	14372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.15)	.	NTKL_HUMAN	SCYL1	HGNC	E9PPN3_HUMAN	.	UPI0000035B94	SNV	SCYL1,missense_variant,p.Glu421Ala,ENST00000420247,;SCYL1,missense_variant,p.Glu421Ala,ENST00000270176,;SCYL1,missense_variant,p.Glu278Ala,ENST00000527009,;SCYL1,missense_variant,p.Glu421Ala,ENST00000525364,;SCYL1,missense_variant,p.Glu421Ala,ENST00000533862,;SCYL1,missense_variant,p.Glu421Ala,ENST00000279270,;SCYL1,missense_variant,p.Glu421Ala,ENST00000524944,;LTBP3,downstream_gene_variant,,ENST00000301873,;SCYL1,upstream_gene_variant,,ENST00000528545,;LTBP3,downstream_gene_variant,,ENST00000530866,;LTBP3,downstream_gene_variant,,ENST00000536982,;LTBP3,downstream_gene_variant,,ENST00000322147,;LTBP3,downstream_gene_variant,,ENST00000526927,;LTBP3,downstream_gene_variant,,ENST00000532661,;LTBP3,downstream_gene_variant,,ENST00000530785,;LTBP3,downstream_gene_variant,,ENST00000529371,;LTBP3,downstream_gene_variant,,ENST00000529189,;LTBP3,downstream_gene_variant,,ENST00000532932,;SCYL1,upstream_gene_variant,,ENST00000534462,;SCYL1,missense_variant,p.Glu31Ala,ENST00000531601,;SCYL1,non_coding_transcript_exon_variant,,ENST00000524897,;SCYL1,upstream_gene_variant,,ENST00000529981,;SCYL1,upstream_gene_variant,,ENST00000532290,;SCYL1,upstream_gene_variant,,ENST00000526454,;SCYL1,downstream_gene_variant,,ENST00000529178,;LTBP3,downstream_gene_variant,,ENST00000528516,;LTBP3,downstream_gene_variant,,ENST00000529582,;	1339	89	47	SUCCESS
RRP8	23378	.	GRCh37	11	6622002	6622002	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1466326165	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	45	107	0	ENST00000254605.6:c.1051C>T	p.Pro351Ser	p.P351S	ENST00000254605	NM_015324.3	351	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31411.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGAACCT	NONE	.	.	hmmpanther:PTHR12787,hmmpanther:PTHR12787:SF0,Gene3D:3.40.50.150,Pfam_domain:PF05148,Superfamily_domains:SSF53335	.	.	ENSP00000254605	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000254605	Transcript	.	.	ENSG00000132275	29030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.01)	.	RRP8_HUMAN	RRP8	HGNC	E9PPY3_HUMAN	.	UPI00001580F8	SNV	RRP8,missense_variant,p.Pro35Ser,ENST00000534343,;RRP8,missense_variant,p.Pro351Ser,ENST00000254605,;ILK,upstream_gene_variant,,ENST00000528995,;ILK,upstream_gene_variant,,ENST00000420936,;ILK,upstream_gene_variant,,ENST00000396751,;ILK,upstream_gene_variant,,ENST00000537806,;ILK,upstream_gene_variant,,ENST00000299421,;RP11-732A19.8,downstream_gene_variant,,ENST00000527191,;ILK,upstream_gene_variant,,ENST00000534565,;ILK,upstream_gene_variant,,ENST00000526318,;RRP8,3_prime_UTR_variant,,ENST00000533907,;RRP8,non_coding_transcript_exon_variant,,ENST00000526352,;ILK,upstream_gene_variant,,ENST00000526114,;ILK,upstream_gene_variant,,ENST00000527394,;ILK,upstream_gene_variant,,ENST00000527327,;ILK,upstream_gene_variant,,ENST00000532063,;ILK,upstream_gene_variant,,ENST00000527121,;RRP8,downstream_gene_variant,,ENST00000530762,;	1169	107	75	SUCCESS
FUT4	2526	.	GRCh37	11	94278040	94278040	+	synonymous_variant	Silent	SNP	C	C	A	rs766872670	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	68	0	ENST00000358752.2:c.741C>A	p.Pro247=	p.P247=	ENST00000358752	NM_002033.3	247	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8301.1	741	MUTECT|MUSE	.	CCCCCCGACTG	NONE	.	.	hmmpanther:PTHR11929:SF132,hmmpanther:PTHR11929,Pfam_domain:PF00852	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	rs766872670	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,synonymous_variant,p.%3D,ENST00000358752,;RP11-867G2.8,downstream_gene_variant,,ENST00000536540,;RP11-867G2.8,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;	1024	68	29	SUCCESS
ACACB	32	.	GRCh37	12	109661672	109661672	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs149793040	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	109	0	ENST00000338432.7:c.3845A>G	p.Tyr1282Cys	p.Y1282C	ENST00000338432		1282	tAt/tGt	0	G:0	G:0	.	G:0	.	G	Y/C	protein_coding	YES	CCDS31898.1	3845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTATCACG	NONE	byCluster|by1000G	.	hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Pfam_domain:PF08326	G:0	G:0.0019	ENSP00000341044	G:0.001	27/53	.	.	.	.	.	.	.	.	rs149793040	27/53	common_in_exac	ENST00000338432	Transcript	.	G:0.0002	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	G:0	tolerated(0.08)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Tyr1212Cys,ENST00000377854,;ACACB,missense_variant,p.Tyr1282Cys,ENST00000377848,;ACACB,missense_variant,p.Tyr1282Cys,ENST00000338432,;	3964	109	82	SUCCESS
CABP1	9478	.	GRCh37	12	121088386	121088386	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	30	0	ENST00000316803.3:c.654+9244C>G		p.*218*	ENST00000316803	NM_001033677.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31913.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCCAGGA	NONE	.	.	.	.	.	ENSP00000317310	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316803	Transcript	.	.	ENSG00000157782	1384	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABP1_HUMAN	CABP1	HGNC	.	.	UPI00005B3D8A	SNV	CABP1,5_prime_UTR_variant,,ENST00000288616,;CABP1,5_prime_UTR_variant,,ENST00000351200,;CABP1,intron_variant,,ENST00000316803,;CABP1,upstream_gene_variant,,ENST00000453000,;	.	30	21	SUCCESS
ZNF10	7556	.	GRCh37	12	133732822	133732822	+	synonymous_variant	Silent	SNP	C	C	T	rs964197905	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	86	0	ENST00000248211.6:c.990C>T	p.Phe330=	p.F330=	ENST00000248211	NM_015394.4	330	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS9283.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCAGCTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,PROSITE_profiles:PS50157	.	.	ENSP00000248211	.	5/5	.	.	.	.	.	.	.	.	COSM3458434	5/5	PASS	ENST00000248211	Transcript	.	.	ENSG00000256223	12879	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZNF10_HUMAN	ZNF10	HGNC	Q9UG14_HUMAN,F5H6S6_HUMAN,F5H311_HUMAN,F5H0R3_HUMAN,F5GZ75_HUMAN	.	UPI0000073582	SNV	ZNF10,synonymous_variant,p.%3D,ENST00000426665,;ZNF10,synonymous_variant,p.%3D,ENST00000402932,;ZNF10,synonymous_variant,p.%3D,ENST00000248211,;ZNF268,intron_variant,,ENST00000416488,;CTD-2140B24.4,intron_variant,,ENST00000540096,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000537119,;	1212	86	66	SUCCESS
KIF21A	55605	.	GRCh37	12	39735325	39735325	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	58	0	ENST00000361418.5:c.1903T>G	p.Ser635Ala	p.S635A	ENST00000361418		635	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS53776.1	1903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGAATCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398	.	.	ENSP00000354878	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.08)	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,missense_variant,p.Ser635Ala,ENST00000361418,;KIF21A,missense_variant,p.Ser622Ala,ENST00000544797,;KIF21A,missense_variant,p.Ser635Ala,ENST00000395670,;KIF21A,missense_variant,p.Ser622Ala,ENST00000541463,;KIF21A,missense_variant,p.Ser622Ala,ENST00000361961,;KIF21A,upstream_gene_variant,,ENST00000552961,;KIF21A,upstream_gene_variant,,ENST00000547108,;KIF21A,upstream_gene_variant,,ENST00000546817,;	1919	58	42	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43826591	43826591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	120	0	ENST00000389420.3:c.2744A>G	p.Glu915Gly	p.E915G	ENST00000389420	NM_025003.3	915	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS31778.2	2744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATTCACTT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,SMART_domains:SM00209	.	.	ENSP00000374071	.	20/39	.	.	.	.	.	.	.	.	.	20/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.691)	.	deleterious(0)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Glu915Gly,ENST00000553158,;ADAMTS20,missense_variant,p.Glu915Gly,ENST00000389420,;ADAMTS20,missense_variant,p.Glu81Gly,ENST00000549670,;ADAMTS20,missense_variant,p.Glu69Gly,ENST00000395541,;	2744	120	103	SUCCESS
PUS7L	83448	.	GRCh37	12	44149046	44149046	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	136	297	0	ENST00000344862.5:c.3G>T	p.Met1?	p.M1?	ENST00000344862	NM_031292.4	1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS8743.1	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCATTCT	NONE	.	.	PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326:SF5,hmmpanther:PTHR13326	.	.	ENSP00000415899	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000416848	Transcript	.	.	ENSG00000129317	25276	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	PUS7L_HUMAN	PUS7L	HGNC	F8VZA0_HUMAN,F8VWC0_HUMAN,F8VW99_HUMAN,F8VP66_HUMAN,B3KUJ1_HUMAN	.	UPI0000037C53	SNV	PUS7L,start_lost,p.Met1?,ENST00000416848,;PUS7L,start_lost,p.Met1?,ENST00000549868,;PUS7L,start_lost,p.Met1?,ENST00000344862,;PUS7L,start_lost,p.Met1?,ENST00000553166,;PUS7L,start_lost,p.Met1?,ENST00000551923,;PUS7L,5_prime_UTR_variant,,ENST00000547156,;PUS7L,intron_variant,,ENST00000431332,;PUS7L,intron_variant,,ENST00000550784,;IRAK4,upstream_gene_variant,,ENST00000440781,;IRAK4,upstream_gene_variant,,ENST00000551736,;IRAK4,upstream_gene_variant,,ENST00000448290,;IRAK4,upstream_gene_variant,,ENST00000550616,;IRAK4,upstream_gene_variant,,ENST00000431837,;IRAK4,upstream_gene_variant,,ENST00000552309,;IRAK4,upstream_gene_variant,,ENST00000546780,;IRAK4,upstream_gene_variant,,ENST00000547101,;IRAK4,upstream_gene_variant,,ENST00000550361,;IRAK4,upstream_gene_variant,,ENST00000547521,;IRAK4,upstream_gene_variant,,ENST00000550615,;IRAK4,upstream_gene_variant,,ENST00000550386,;	492	297	214	SUCCESS
AQP2	359	.	GRCh37	12	50344682	50344682	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779085450	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	52	0	ENST00000199280.3:c.69C>A	p.Phe23Leu	p.F23L	ENST00000199280	NM_000486.5	23	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS8792.1	69	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCGTCTT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF45,hmmpanther:PTHR19139,Pfam_domain:PF00230,Gene3D:1.20.1080.10,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338,Prints_domain:PR00783	.	.	ENSP00000199280	.	1/4	.	.	.	.	.	.	.	.	rs779085450	1/4	PASS	ENST00000199280	Transcript	.	.	ENSG00000167580	634	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.614)	.	deleterious(0.01)	.	AQP2_HUMAN	AQP2	HGNC	.	.	UPI000000D9DF	SNV	AQP2,missense_variant,p.Phe23Leu,ENST00000550862,;AQP2,missense_variant,p.Phe23Leu,ENST00000199280,;RP11-469H8.6,downstream_gene_variant,,ENST00000552379,;RP11-469H8.8,downstream_gene_variant,,ENST00000552806,;RP11-469H8.6,downstream_gene_variant,,ENST00000550530,;AQP2,missense_variant,p.Phe23Leu,ENST00000551526,;	154	52	33	SUCCESS
DIP2B	57609	.	GRCh37	12	51064971	51064971	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs780741053	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	48	0	ENST00000301180.5:c.430A>G	p.Thr144Ala	p.T144A	ENST00000301180	NM_173602.2	144	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS31799.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACACATCT	NONE	.	.	hmmpanther:PTHR22754:SF22,hmmpanther:PTHR22754	.	.	ENSP00000301180	.	5/38	.	.	.	.	.	.	.	.	rs780741053	5/38	PASS	ENST00000301180	Transcript	.	.	ENSG00000066084	29284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.622)	.	deleterious(0.04)	.	DIP2B_HUMAN	DIP2B	HGNC	Q96IB4_HUMAN	.	UPI0000406CA1	SNV	DIP2B,missense_variant,p.Thr144Ala,ENST00000301180,;DIP2B,splice_region_variant,,ENST00000549620,;DIP2B,splice_region_variant,,ENST00000546719,;	464	48	32	SUCCESS
APOF	319	.	GRCh37	12	56755136	56755136	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	117	0	ENST00000398189.3:c.854G>A	p.Ser285Asn	p.S285N	ENST00000398189	NM_001638.2	285	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS44923.1	854	MUTECT|MUSE	.	AGTCACTCACA	NONE	.	.	hmmpanther:PTHR15011,hmmpanther:PTHR15011:SF3	.	.	ENSP00000381250	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398189	Transcript	.	.	ENSG00000175336	615	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.15)	.	APOF_HUMAN	APOF	HGNC	F5GXS5_HUMAN	.	UPI0000167B1E	SNV	APOF,missense_variant,p.Ser285Asn,ENST00000398189,;APOF,missense_variant,p.Ser267Asn,ENST00000541105,;STAT2,upstream_gene_variant,,ENST00000418572,;STAT2,upstream_gene_variant,,ENST00000557235,;STAT2,upstream_gene_variant,,ENST00000314128,;STAT2,upstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000555646,;STAT2,upstream_gene_variant,,ENST00000557417,;	932	117	63	SUCCESS
ANO2	57101	.	GRCh37	12	5841762	5841762	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375457985	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	41	83	0	ENST00000356134.5:c.1472G>A	p.Arg491Gln	p.R491Q	ENST00000356134		491	cGa/cAa	0	T:0	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	.	1469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCGAACT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12308:SF20,hmmpanther:PTHR12308,Pfam_domain:PF04547	T:0	T:0.0001	ENSP00000314048	T:0	15/26	.	.	.	.	.	.	.	.	rs375457985	15/26	PASS	ENST00000327087	Transcript	.	T:0.0002	ENSG00000047617	1183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	T:0	tolerated(0.64)	.	ANO2_HUMAN	ANO2	HGNC	Q69YW4_HUMAN	.	UPI0001823FDD	SNV	ANO2,missense_variant,p.Arg490Gln,ENST00000327087,;ANO2,missense_variant,p.Arg491Gln,ENST00000546188,;ANO2,missense_variant,p.Arg50Gln,ENST00000545860,;ANO2,missense_variant,p.Arg491Gln,ENST00000356134,;ANO2,non_coding_transcript_exon_variant,,ENST00000540543,;ANO2,non_coding_transcript_exon_variant,,ENST00000542326,;ANO2,non_coding_transcript_exon_variant,,ENST00000538154,;	1541	83	59	SUCCESS
GRIP1	23426	.	GRCh37	12	66786264	66786264	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1220149761	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	60	135	0	ENST00000359742.4:c.2288C>T	p.Pro763Leu	p.P763L	ENST00000359742		763	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41807.1	2132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGGGGCTC	NONE	.	.	hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316	.	.	ENSP00000381098	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	deleterious(0.02)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Pro711Leu,ENST00000538211,;GRIP1,missense_variant,p.Pro578Leu,ENST00000538164,;GRIP1,missense_variant,p.Pro763Leu,ENST00000286445,;GRIP1,missense_variant,p.Pro603Leu,ENST00000536215,;GRIP1,missense_variant,p.Pro711Leu,ENST00000398016,;GRIP1,missense_variant,p.Pro763Leu,ENST00000359742,;GRIP1,missense_variant,p.Pro655Leu,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,non_coding_transcript_exon_variant,,ENST00000541299,;	2201	135	98	SUCCESS
USP5	8078	.	GRCh37	12	6961443	6961443	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	33	0	ENST00000229268.8:c.100T>G	p.Phe34Val	p.F34V	ENST00000229268	NM_001098536.1	34	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS41743.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTTCGAC	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,PIRSF_domain:PIRSF016308	.	.	ENSP00000229268	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	.	deleterious(0)	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,missense_variant,p.Phe34Val,ENST00000542087,;USP5,missense_variant,p.Phe34Val,ENST00000229268,;USP5,missense_variant,p.Phe34Val,ENST00000389231,;CDCA3,upstream_gene_variant,,ENST00000538862,;CDCA3,upstream_gene_variant,,ENST00000229265,;GNB3,downstream_gene_variant,,ENST00000229264,;CDCA3,upstream_gene_variant,,ENST00000535406,;CDCA3,upstream_gene_variant,,ENST00000422785,;CDCA3,upstream_gene_variant,,ENST00000540683,;CDCA3,upstream_gene_variant,,ENST00000603043,;CDCA3,upstream_gene_variant,,ENST00000545368,;CDCA3,upstream_gene_variant,,ENST00000535871,;CDCA3,upstream_gene_variant,,ENST00000604599,;CDCA3,upstream_gene_variant,,ENST00000544610,;GNB3,downstream_gene_variant,,ENST00000540458,;CDCA3,upstream_gene_variant,,ENST00000536241,;CDCA3,upstream_gene_variant,,ENST00000446553,;USP5,upstream_gene_variant,,ENST00000535080,;GNB3,downstream_gene_variant,,ENST00000542751,;	152	33	31	SUCCESS
TRHDE	29953	.	GRCh37	12	73014936	73014936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	57	134	0	ENST00000261180.4:c.2383C>A	p.Pro795Thr	p.P795T	ENST00000261180	NM_013381.2	795	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS9004.1	2383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCGAAA	NONE	.	.	Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	.	.	ENSP00000261180	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000261180	Transcript	.	.	ENSG00000072657	30748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	tolerated(0.51)	.	TRHDE_HUMAN	TRHDE	HGNC	.	.	UPI0000136D52	SNV	TRHDE,missense_variant,p.Pro795Thr,ENST00000261180,;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;	2479	134	103	SUCCESS
RIMKLB	57494	.	GRCh37	12	8866531	8866531	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	95	0	ENST00000357529.3:c.69A>G	p.Gln23=	p.Q23=	ENST00000357529	NM_020734.2	23	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS41748.1	69	MUTECT|MUSE|VARSCANS	.	CCTCAAAAAGA	NONE	.	.	hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF5,TIGRFAM_domain:TIGR00768,Gene3D:3.40.50.20	.	.	ENSP00000350136	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000357529	Transcript	.	.	ENSG00000166532	29228	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RIMKB_HUMAN	RIMKLB	HGNC	F5H3V4_HUMAN,F5GZH5_HUMAN	.	UPI000013E5D1	SNV	RIMKLB,synonymous_variant,p.%3D,ENST00000541044,;RIMKLB,synonymous_variant,p.%3D,ENST00000357529,;RIMKLB,synonymous_variant,p.%3D,ENST00000539923,;RIMKLB,synonymous_variant,p.%3D,ENST00000535829,;RIMKLB,synonymous_variant,p.%3D,ENST00000538135,;RIMKLB,synonymous_variant,p.%3D,ENST00000537189,;RIMKLB,non_coding_transcript_exon_variant,,ENST00000299673,;RIMKLB,synonymous_variant,p.%3D,ENST00000544257,;RIMKLB,non_coding_transcript_exon_variant,,ENST00000538758,;	1331	95	57	SUCCESS
COCH	1690	.	GRCh37	14	31355229	31355229	+	synonymous_variant	Silent	SNP	T	T	G	rs771767136	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	54	111	0	ENST00000216361.4:c.1188T>G	p.Thr396=	p.T396=	ENST00000216361	NM_001135058.1	396	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9640.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACTTTTGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF84,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000379862	.	11/12	.	.	.	.	.	.	.	.	rs771767136	11/12	PASS	ENST00000396618	Transcript	.	.	ENSG00000100473	2180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCH_HUMAN	COCH	HGNC	G3V5G6_HUMAN,G3V4C4_HUMAN	.	UPI0000048EBB	SNV	COCH,synonymous_variant,p.%3D,ENST00000382493,;COCH,synonymous_variant,p.%3D,ENST00000468826,;COCH,synonymous_variant,p.%3D,ENST00000216361,;COCH,synonymous_variant,p.%3D,ENST00000460581,;COCH,synonymous_variant,p.%3D,ENST00000475087,;COCH,synonymous_variant,p.%3D,ENST00000396618,;COCH,downstream_gene_variant,,ENST00000555881,;RP11-829H16.3,non_coding_transcript_exon_variant,,ENST00000555108,;RP11-829H16.3,upstream_gene_variant,,ENST00000555421,;RP11-829H16.3,downstream_gene_variant,,ENST00000556786,;RP11-829H16.3,downstream_gene_variant,,ENST00000468444,;COCH,downstream_gene_variant,,ENST00000557065,;COCH,downstream_gene_variant,,ENST00000553772,;	1244	111	62	SUCCESS
FANCM	57697	.	GRCh37	14	45618114	45618114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	34	100	0	ENST00000267430.5:c.834G>T	p.Leu278Phe	p.L278F	ENST00000267430	NM_020937.2	278	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS32070.1	834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGACATA	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000267430	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	tolerated(0.06)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Leu278Phe,ENST00000556036,;FANCM,missense_variant,p.Leu252Phe,ENST00000542564,;FANCM,missense_variant,p.Leu278Phe,ENST00000267430,;	919	100	40	SUCCESS
SMEK1	0	.	GRCh37	14	91943274	91943274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	84	187	0	ENST00000554943.1:c.972T>A	p.Asp324Glu	p.D324E	ENST00000554943		324	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS9895.1	972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCATCTGT	NONE	.	.	hmmpanther:PTHR23318:SF3,hmmpanther:PTHR23318,Pfam_domain:PF04802,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000450864	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.27)	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,missense_variant,p.Asp324Glu,ENST00000554684,;SMEK1,missense_variant,p.Asp85Glu,ENST00000555462,;SMEK1,missense_variant,p.Asp85Glu,ENST00000428424,;SMEK1,missense_variant,p.Asp324Glu,ENST00000337238,;SMEK1,missense_variant,p.Asp119Glu,ENST00000555470,;SMEK1,missense_variant,p.Asp85Glu,ENST00000555029,;SMEK1,missense_variant,p.Asp324Glu,ENST00000554943,;SMEK1,missense_variant,p.Asp327Glu,ENST00000554308,;SMEK1,missense_variant,p.Asp324Glu,ENST00000554390,;SMEK1,non_coding_transcript_exon_variant,,ENST00000554574,;	1469	187	102	SUCCESS
APBA2	321	.	GRCh37	15	29406146	29406146	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1417853302	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	66	0	ENST00000558259.1:c.2105A>G	p.Glu702Gly	p.E702G	ENST00000558259	NM_005503.3	702	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10022.1	2105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCGAGATCA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000453293	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,missense_variant,p.Glu702Gly,ENST00000558259,;APBA2,missense_variant,p.Glu702Gly,ENST00000561069,;APBA2,missense_variant,p.Glu702Gly,ENST00000558402,;APBA2,missense_variant,p.Glu690Gly,ENST00000411764,;APBA2,missense_variant,p.Glu690Gly,ENST00000558330,;	2704	66	48	SUCCESS
LPCAT4	254531	.	GRCh37	15	34651465	34651465	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	93	0	ENST00000314891.6:c.1438G>A	p.Gly480Arg	p.G480R	ENST00000314891	NM_153613.2	480	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS32191.1	1438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCATAGA	NONE	.	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7	.	.	ENSP00000317300	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000314891	Transcript	.	.	ENSG00000176454	30059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.88)	.	LPCT4_HUMAN	LPCAT4	HGNC	B7ZM32_HUMAN	.	UPI00003D0606	SNV	LPCAT4,missense_variant,p.Gly480Arg,ENST00000314891,;NUTM1,downstream_gene_variant,,ENST00000537011,;NUTM1,downstream_gene_variant,,ENST00000333756,;NUTM1,downstream_gene_variant,,ENST00000438749,;LPCAT4,3_prime_UTR_variant,,ENST00000567507,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000563748,;LPCAT4,downstream_gene_variant,,ENST00000563240,;LPCAT4,downstream_gene_variant,,ENST00000562404,;LPCAT4,downstream_gene_variant,,ENST00000566581,;	1616	93	96	SUCCESS
INO80	54617	.	GRCh37	15	41388517	41388517	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	77	0	ENST00000361937.3:c.-9A>T		p.*3*	ENST00000361937				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10071.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAATCTGTC	NONE	.	.	.	.	.	ENSP00000355205	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000361937	Transcript	.	.	ENSG00000128908	26956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INO80_HUMAN	INO80	HGNC	Q9NUK2_HUMAN	.	UPI00001B6AFC	SNV	INO80,5_prime_UTR_variant,,ENST00000361937,;INO80,5_prime_UTR_variant,,ENST00000401393,;INO80,5_prime_UTR_variant,,ENST00000558357,;	417	77	85	SUCCESS
TMEM87A	25963	.	GRCh37	15	42536362	42536362	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145141787	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	62	163	0	ENST00000389834.4:c.508A>G	p.Met170Val	p.M170V	ENST00000389834	NM_015497.3	170	Atg/Gtg	0	C:0	.	.	.	.	C	M/V	protein_coding	YES	CCDS32205.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCATTGCCT	NONE	byCluster	.	hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF10	.	C:0.0003	ENSP00000374484	.	7/20	.	.	.	.	.	.	.	.	rs145141787	7/20	PASS	ENST00000389834	Transcript	.	.	ENSG00000103978	24522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.43)	.	TM87A_HUMAN	TMEM87A	HGNC	H3BPJ4_HUMAN,H3BMU0_HUMAN,H3BM87_HUMAN	.	UPI0000073A7E	SNV	TMEM87A,missense_variant,p.Met29Val,ENST00000561578,;TMEM87A,missense_variant,p.Met170Val,ENST00000389834,;TMEM87A,missense_variant,p.Met29Val,ENST00000568400,;TMEM87A,missense_variant,p.Met29Val,ENST00000566474,;TMEM87A,missense_variant,p.Met29Val,ENST00000563371,;TMEM87A,missense_variant,p.Met109Val,ENST00000448392,;TMEM87A,3_prime_UTR_variant,,ENST00000569075,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000562946,;	773	163	145	SUCCESS
DUOX1	53905	.	GRCh37	15	45437208	45437208	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs767953890	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	46	102	0	ENST00000321429.4:c.2252T>A	p.Met751Lys	p.M751K	ENST00000321429	NM_017434.3	751	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS32221.1	2252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATGAGAG	NONE	.	.	hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37	.	.	ENSP00000317997	.	19/35	.	.	.	.	.	.	.	.	rs767953890	19/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.09)	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,missense_variant,p.Met751Lys,ENST00000389037,;DUOX1,missense_variant,p.Met751Lys,ENST00000321429,;DUOX1,missense_variant,p.Met397Lys,ENST00000561166,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000557893,;DUOX1,upstream_gene_variant,,ENST00000559219,;DUOX1,downstream_gene_variant,,ENST00000558991,;	2659	102	98	SUCCESS
WDR72	256764	.	GRCh37	15	53992110	53992110	+	synonymous_variant	Silent	SNP	G	G	A	rs765414382	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	54	155	0	ENST00000360509.5:c.1602C>T	p.Cys534=	p.C534=	ENST00000360509		534	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS10151.1	1602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGCACAC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR12816:SF18,hmmpanther:PTHR12816,PROSITE_profiles:PS50294	.	.	ENSP00000379619	.	13/20	.	.	.	.	.	.	.	.	rs765414382,COSM962898,COSM1373536	13/20	PASS	ENST00000396328	Transcript	1	.	ENSG00000166415	26790	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	WDR72_HUMAN	WDR72	HGNC	H0YN02_HUMAN	.	UPI00001D777D	SNV	WDR72,synonymous_variant,p.%3D,ENST00000560036,;WDR72,synonymous_variant,p.%3D,ENST00000559418,;WDR72,synonymous_variant,p.%3D,ENST00000557913,;WDR72,synonymous_variant,p.%3D,ENST00000396328,;WDR72,synonymous_variant,p.%3D,ENST00000360509,;	1842	155	137	SUCCESS
SCAMP2	10066	.	GRCh37	15	75142867	75142867	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	82	0	ENST00000268099.9:c.620A>G	p.Tyr207Cys	p.Y207C	ENST00000268099	NM_005697.3	207	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10271.1	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTATAGATG	NONE	.	.	Pfam_domain:PF04144,hmmpanther:PTHR10687:SF7,hmmpanther:PTHR10687	.	.	ENSP00000268099	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000268099	Transcript	.	.	ENSG00000140497	10564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SCAM2_HUMAN	SCAMP2	HGNC	H3BMN2_HUMAN	.	UPI00001355FD	SNV	SCAMP2,missense_variant,p.Tyr250Cys,ENST00000564529,;SCAMP2,missense_variant,p.Tyr167Cys,ENST00000566480,;SCAMP2,missense_variant,p.Tyr184Cys,ENST00000562363,;SCAMP2,missense_variant,p.Tyr57Cys,ENST00000565345,;SCAMP2,missense_variant,p.Tyr207Cys,ENST00000268099,;SCAMP2,missense_variant,p.Tyr207Cys,ENST00000569904,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000569251,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000567638,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000563829,;SCAMP2,intron_variant,,ENST00000563663,;SCAMP2,downstream_gene_variant,,ENST00000566557,;SCAMP2,downstream_gene_variant,,ENST00000569124,;	730	82	77	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79092561	79092561	+	synonymous_variant	Silent	SNP	C	C	A	rs775407491	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	21	0	ENST00000388820.4:c.429G>T	p.Leu143=	p.L143=	ENST00000388820	NM_014272.3	143	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32303.1	429	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCCGCCAGGCC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,Pfam_domain:PF01562	.	.	ENSP00000373472	.	2/24	.	.	.	.	.	.	.	.	rs775407491	2/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,synonymous_variant,p.%3D,ENST00000388820,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	640	21	18	SUCCESS
MCTP2	55784	.	GRCh37	15	94945835	94945835	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	67	0	ENST00000357742.4:c.2085+587C>A		p.*695*	ENST00000357742	NM_018349.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32338.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCACCTAAG	NONE	.	.	.	.	.	ENSP00000350377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODIFIER	16/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,3_prime_UTR_variant,,ENST00000557742,;MCTP2,intron_variant,,ENST00000357742,;MCTP2,intron_variant,,ENST00000451018,;MCTP2,downstream_gene_variant,,ENST00000331706,;MCTP2,intron_variant,,ENST00000456504,;MCTP2,downstream_gene_variant,,ENST00000557505,;	.	67	59	SUCCESS
CNOT1	23019	.	GRCh37	16	58568155	58568155	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	73	0	ENST00000317147.5:c.5791A>T	p.Lys1931Ter	p.K1931*	ENST00000317147	NM_016284.4	1931	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS10799.1	5791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTTGGCTC	NONE	.	.	hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162	.	.	ENSP00000320949	.	40/49	.	.	.	.	.	.	.	.	.	40/49	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	SNV	CNOT1,stop_gained,p.Lys1931Ter,ENST00000317147,;CNOT1,stop_gained,p.Lys1926Ter,ENST00000569240,;CNOT1,stop_gained,p.Lys311Ter,ENST00000568917,;CNOT1,stop_gained,p.Lys782Ter,ENST00000245138,;CNOT1,stop_gained,p.Lys1926Ter,ENST00000567188,;CNOT1,upstream_gene_variant,,ENST00000570139,;CNOT1,downstream_gene_variant,,ENST00000563283,;CNOT1,upstream_gene_variant,,ENST00000563130,;	6124	73	77	SUCCESS
UTP6	55813	.	GRCh37	17	30207638	30207638	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139786553	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	77	0	ENST00000261708.4:c.921G>T	p.Glu307Asp	p.E307D	ENST00000261708	NM_018428.2	307	gaG/gaT	0	G:0	.	.	.	.	A	E/D	protein_coding	YES	CCDS11269.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCTCCTC	NONE	.	.	hmmpanther:PTHR23271,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	G:0.0001	ENSP00000261708	.	11/19	.	.	.	.	.	.	.	.	rs139786553,COSM977533	11/19	PASS	ENST00000261708	Transcript	.	.	ENSG00000108651	18279	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.03)	.	tolerated(0.1)	0,1	UTP6_HUMAN	UTP6	HGNC	Q9P1J8_HUMAN,B3KX32_HUMAN	.	UPI0000049FB3	SNV	UTP6,missense_variant,p.Glu307Asp,ENST00000261708,;CTC-542B22.2,intron_variant,,ENST00000583236,;UTP6,downstream_gene_variant,,ENST00000490218,;UTP6,non_coding_transcript_exon_variant,,ENST00000583408,;UTP6,non_coding_transcript_exon_variant,,ENST00000477128,;	1059	77	68	SUCCESS
LRRC37A11P	342666	.	GRCh37	17	37187987	37187987	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	12	0	ENST00000579258.2:n.2534-72C>A		p.*845*	ENST00000579258				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	TAGCTCAACCT	NONE	.	4624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000582518	Transcript	.	.	ENSG00000266013	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CTD-2206N4.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2206N4.2,upstream_gene_variant,,ENST00000582518,;LRRC37A11P,non_coding_transcript_exon_variant,,ENST00000425901,;LRRC37A11P,intron_variant,,ENST00000579258,;CTD-2206N4.1,downstream_gene_variant,,ENST00000584401,;	.	12	10	SUCCESS
DHX8	1659	.	GRCh37	17	41599464	41599471	+	frameshift_variant	Frame_Shift_Del	DEL	AAGGCCAT	AAGGCCAT	-	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	AAGGCCAT	AAGGCCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	153	0	ENST00000262415.3:c.3313_3320del	p.Lys1105LeufsTer7	p.K1105Lfs*7	ENST00000262415	NM_004941.1	1105	AAGGCCATc/c	0	.	.	.	.	.	-	KAI/X	protein_coding	YES	CCDS11464.1	3313-3320	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCAGAAGGCCATCTGCA	NONE	.	.	hmmpanther:PTHR18934:SF85,hmmpanther:PTHR18934,Pfam_domain:PF07717,Superfamily_domains:SSF52540	.	.	ENSP00000262415	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000262415	Transcript	.	.	ENSG00000067596	2749	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX8_HUMAN	DHX8	HGNC	.	.	UPI00001290D9	deletion	DHX8,frameshift_variant,p.Lys1105LeufsTer7,ENST00000540306,;DHX8,frameshift_variant,p.Lys74LeufsTer7,ENST00000589898,;DHX8,frameshift_variant,p.Lys1105LeufsTer7,ENST00000262415,;DHX8,upstream_gene_variant,,ENST00000587574,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;	3385-3392	153	103	SUCCESS
TP53	7157	.	GRCh37	17	7578190	7578190	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121912666	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	46	117	0	ENST00000269305.4:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000269305	NM_001126112.2	220	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11118.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GCTCATAGGGC	SITE|p.Y220C|c.659A>G|264,SITE|p.Y220C|c.659A>G|63,SITE|p.Y127C|c.380A>G|63,SITE|p.Y220C|c.659A>G|25,SITE|p.Y220C|c.659A>G|61,SITE|p.Y220C|c.659A>G|33,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y220*|c.660T>G|3,CODON|p.Y220S|c.659A>C|4,CODON|p.Y127S|c.380A>C|4,CODON|p.Y220S|c.659A>C|3,CODON|p.Y220S|c.659A>C|3,CODON|p.Y220S|c.659A>C|4,CODON|p.Y220S|c.659A>C|13,BUFFER|p.E224K|c.670G>A|4,BUFFER|p.E224*|c.670G>T|5,BUFFER|p.P223L|c.668C>T|3,BUFFER|p.P222P|c.666G>C|3,BUFFER|p.P222L|c.665C>T|4,BUFFER|p.P222T|c.664C>A|3,BUFFER|p.E221G|c.662A>G|3,BUFFER|p.E221fs*4|c.660_661insN|3,BUFFER|p.E221*|c.661G>T|6,BUFFER|p.E221*|c.661G>T|6,BUFFER|p.E128*|c.382G>T|6,BUFFER|p.E221*|c.661G>T|10,BUFFER|p.?|c.252+10T>A|3,BUFFER|p.Y220N|c.658T>A|16,BUFFER|p.?|c.252+10T>C|4,BUFFER|p.Y220H|c.658T>C|4,BUFFER|p.Y220H|c.658T>C|13,BUFFER|p.Y220H|c.658T>C|4,BUFFER|p.Y220N|c.658T>A|3,BUFFER|p.Y127H|c.379T>C|4,BUFFER|p.Y127N|c.379T>A|3,BUFFER|p.Y220N|c.658T>A|3,BUFFER|p.P219P|c.657C>T|3,BUFFER|p.Y220fs*27|c.655delC|4,BUFFER|p.V218delV|c.652_654delGTG|3,BUFFER|p.P219S|c.655C>T|4,BUFFER|p.V218G|c.653T>G|6,BUFFER|p.V218A|c.653T>C|3,BUFFER|p.V218E|c.653T>A|8,BUFFER|p.V218M|c.652G>A|7,BUFFER|p.V217A|c.650T>C|5,BUFFER|p.V217G|c.650T>G|4,BUFFER|p.V217E|c.650T>A|3,BUFFER|p.V218delV|c.646_648delGTG|8	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM015378,CM951227,rs121912666,TP53_g.12728A>T,TP53_g.12728A>C,TP53_g.12728A>G,COSM10758,COSM43850,COSM1564197,COSM99720,COSM251427,COSM1564198,COSM251426,COSM99718,COSM1564199,COSM3355993,COSM3675523,COSM1644277,COSM3675522,COSM99719,COSM251428,COSM1564200	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25404506	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr220Cys,ENST00000413465,;TP53,missense_variant,p.Tyr220Cys,ENST00000420246,;TP53,missense_variant,p.Tyr220Cys,ENST00000269305,;TP53,missense_variant,p.Tyr88Cys,ENST00000509690,;TP53,missense_variant,p.Tyr220Cys,ENST00000359597,;TP53,missense_variant,p.Tyr127Cys,ENST00000514944,;TP53,missense_variant,p.Tyr220Cys,ENST00000445888,;TP53,missense_variant,p.Tyr220Cys,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	849	117	52	SUCCESS
MOCOS	55034	.	GRCh37	18	33775294	33775294	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	40	107	0	ENST00000261326.5:c.217A>T	p.Met73Leu	p.M73L	ENST00000261326	NM_017947.2	73	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS11919.1	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCATGGAA	NONE	.	.	Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050	.	.	ENSP00000261326	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.77)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Met73Leu,ENST00000261326,;	238	107	80	SUCCESS
PIGN	23556	.	GRCh37	18	59757812	59757812	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	83	0	ENST00000357637.5:c.2181-1G>A		p.X727_splice	ENST00000357637	NM_176787.4	727		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTAACA	NONE	.	.	.	.	.	ENSP00000350263	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357637	Transcript	.	.	ENSG00000197563	8967	.	.	HIGH	23/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGN_HUMAN	PIGN	HGNC	K7ESH9_HUMAN,K7ERX5_HUMAN,K7EQG0_HUMAN,K7EPN0_HUMAN,K7ENC3_HUMAN,K7EMD7_HUMAN,K7EM45_HUMAN,K7ELE1_HUMAN,K7EL34_HUMAN,K7EK83_HUMAN	.	UPI0000070A47	SNV	PIGN,splice_acceptor_variant,,ENST00000400334,;PIGN,splice_acceptor_variant,,ENST00000357637,;PIGN,splice_acceptor_variant,,ENST00000587942,;	.	83	74	SUCCESS
LAMA1	284217	.	GRCh37	18	7016605	7016605	+	synonymous_variant	Silent	SNP	G	G	A	rs199612213	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	23	45	0	ENST00000389658.3:c.2874C>T	p.Ser958=	p.S958=	ENST00000389658	NM_005559.3	958	tcC/tcT	0	A:0	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS32787.1	2874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACGGAGCC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	A:0.001	A:0.0001	ENSP00000374309	A:0	21/63	.	.	.	.	.	.	.	.	rs199612213	21/63	PASS	ENST00000389658	Transcript	.	A:0.0002	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	2968	45	44	SUCCESS
C19orf44	84167	.	GRCh37	19	16612008	16612009	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	131	0	ENST00000221671.3:c.406dup	p.Ser136PhefsTer22	p.S136Ffs*22	ENST00000221671	NM_032207.2	135	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS12345.1	405-406	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCTCTCTGG	NONE	.	.	hmmpanther:PTHR22409:SF2,hmmpanther:PTHR22409	.	.	ENSP00000221671	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000221671	Transcript	.	.	ENSG00000105072	26141	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CS044_HUMAN	C19orf44	HGNC	M0R1E2_HUMAN,M0QXR9_HUMAN,B4DN63_HUMAN	.	UPI0000070DFC	insertion	C19orf44,frameshift_variant,p.Ser136PhefsTer22,ENST00000594035,;C19orf44,frameshift_variant,p.Ser136PhefsTer22,ENST00000221671,;C19orf44,downstream_gene_variant,,ENST00000594813,;C19orf44,downstream_gene_variant,,ENST00000599550,;C19orf44,frameshift_variant,p.Ser136PhefsTer22,ENST00000596592,;C19orf44,frameshift_variant,p.Ser136PhefsTer22,ENST00000593380,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	561-562	131	98	SUCCESS
NXNL1	115861	.	GRCh37	19	17571605	17571605	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	50	0	ENST00000301944.2:c.74A>C	p.Glu25Ala	p.E25A	ENST00000301944	NM_138454.1	25	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS12360.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTCAGCC	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,hmmpanther:PTHR13871:SF25,hmmpanther:PTHR13871,PROSITE_profiles:PS51352	.	.	ENSP00000305631	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000301944	Transcript	.	.	ENSG00000171773	25179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.03)	.	NXNL1_HUMAN	NXNL1	HGNC	.	.	UPI00000540D3	SNV	NXNL1,missense_variant,p.Glu25Ala,ENST00000301944,;CTD-2521M24.10,5_prime_UTR_variant,,ENST00000594663,;AC010319.1,downstream_gene_variant,,ENST00000410873,;	159	50	23	SUCCESS
DPY19L3	147991	.	GRCh37	19	32954294	32954294	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148244577	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	15	167	0	ENST00000342179.5:c.1345G>A	p.Val449Met	p.V449M	ENST00000342179	NM_207325.2	449	Gtg/Atg	0	A:0.0018	A:0.003	.	A:0	.	A	V/M	protein_coding	YES	CCDS12422.1	1345	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGTGGGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF4,Pfam_domain:PF10034	A:0	A:0	ENSP00000344937	A:0	13/19	.	.	.	.	.	.	.	.	rs148244577	13/19	PASS	ENST00000342179	Transcript	.	A:0.0008	ENSG00000178904	27120	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	A:0	tolerated(0.42)	.	D19L3_HUMAN	DPY19L3	HGNC	K7ELG1_HUMAN	.	UPI00001C10BE	SNV	DPY19L3,missense_variant,p.Val449Met,ENST00000342179,;DPY19L3,missense_variant,p.Val449Met,ENST00000392250,;DPY19L3,missense_variant,p.Val449Met,ENST00000586987,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000590651,;DPY19L3,missense_variant,p.Val216Met,ENST00000588648,;DPY19L3,missense_variant,p.Val44Met,ENST00000592832,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000585597,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000592142,;	1560	167	139	SUCCESS
ZNF527	84503	.	GRCh37	19	37865094	37865094	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	84	0	ENST00000436120.2:c.-7A>G		p.*3*	ENST00000436120	NM_032453.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42559.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAAGGAGG	NONE	.	.	.	.	.	ENSP00000390179	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000436120	Transcript	.	.	ENSG00000189164	29385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,5_prime_UTR_variant,,ENST00000483919,;ZNF527,5_prime_UTR_variant,,ENST00000588911,;ZNF527,5_prime_UTR_variant,,ENST00000587349,;ZNF527,5_prime_UTR_variant,,ENST00000436120,;HKR1,downstream_gene_variant,,ENST00000591134,;ZNF527,non_coding_transcript_exon_variant,,ENST00000589615,;ZNF527,5_prime_UTR_variant,,ENST00000588512,;ZNF527,5_prime_UTR_variant,,ENST00000356178,;	101	84	69	SUCCESS
DBP	1628	.	GRCh37	19	49134159	49134159	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	112	0	ENST00000222122.5:c.913C>A	p.Arg305Ser	p.R305S	ENST00000222122	NM_001352.3	305	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS12728.1	913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCACGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR11988:SF7,hmmpanther:PTHR11988,Gene3D:1.20.5.170,Pfam_domain:PF07716,SMART_domains:SM00338,Superfamily_domains:SSF57959	.	.	ENSP00000222122	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000222122	Transcript	.	.	ENSG00000105516	2697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	DBP_HUMAN	DBP	HGNC	M0QXW3_HUMAN	.	UPI0000000CC1	SNV	DBP,missense_variant,p.Arg305Ser,ENST00000222122,;DBP,missense_variant,p.Arg103Ser,ENST00000593500,;DBP,missense_variant,p.Arg103Ser,ENST00000599385,;SPHK2,downstream_gene_variant,,ENST00000340932,;SPHK2,downstream_gene_variant,,ENST00000601704,;SPHK2,downstream_gene_variant,,ENST00000599748,;DBP,downstream_gene_variant,,ENST00000601104,;SPHK2,downstream_gene_variant,,ENST00000593308,;SPHK2,downstream_gene_variant,,ENST00000245222,;SPHK2,downstream_gene_variant,,ENST00000601712,;SPHK2,downstream_gene_variant,,ENST00000598088,;SPHK2,downstream_gene_variant,,ENST00000600537,;SPHK2,downstream_gene_variant,,ENST00000443164,;SPHK2,downstream_gene_variant,,ENST00000599029,;SPHK2,downstream_gene_variant,,ENST00000599033,;DBP,non_coding_transcript_exon_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000597434,;SPHK2,downstream_gene_variant,,ENST00000598574,;SPHK2,downstream_gene_variant,,ENST00000426514,;	1357	112	59	SUCCESS
MAMSTR	284358	.	GRCh37	19	49220043	49220043	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	31	0	ENST00000318083.6:c.59-43C>T		p.*20*	ENST00000318083				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46137.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGAGTGT	NONE	.	.	.	.	.	ENSP00000324175	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318083	Transcript	.	.	ENSG00000176909	26689	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MASTR_HUMAN	MAMSTR	HGNC	.	.	UPI000035E7CB	SNV	MAMSTR,5_prime_UTR_variant,,ENST00000356751,;MAMSTR,5_prime_UTR_variant,,ENST00000595591,;MAMSTR,5_prime_UTR_variant,,ENST00000594582,;MAMSTR,intron_variant,,ENST00000599703,;MAMSTR,intron_variant,,ENST00000318083,;MAMSTR,intron_variant,,ENST00000377367,;MAMSTR,intron_variant,,ENST00000419611,;RASIP1,downstream_gene_variant,,ENST00000222145,;RASIP1,downstream_gene_variant,,ENST00000601530,;	.	31	29	SUCCESS
TARM1	441864	.	GRCh37	19	54579163	54579163	+	synonymous_variant	Silent	SNP	G	G	A	rs899888207	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	32	45	0	ENST00000432826.1:c.42C>T	p.Cys14=	p.C14=	ENST00000432826	NM_001135686.1	14	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS46173.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGCACAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11738:SF84,hmmpanther:PTHR11738	.	.	ENSP00000439454	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000432826	Transcript	.	.	ENSG00000248385	37250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TARM1_HUMAN	TARM1	HGNC	.	.	UPI00004FB5DD	SNV	TARM1,synonymous_variant,p.%3D,ENST00000432826,;TARM1,synonymous_variant,p.%3D,ENST00000446034,;	67	45	55	SUCCESS
MUC16	94025	.	GRCh37	19	9026242	9026242	+	synonymous_variant	Silent	SNP	A	A	T	rs1019139089	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	110	0	ENST00000397910.4:c.36744T>A	p.Arg12248=	p.R12248=	ENST00000397910	NM_024690.2	12248	cgT/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54212.1	36744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGACGCAT	NONE	.	.	Superfamily_domains:0047452,SMART_domains:SM00200,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	14/84	.	.	.	.	.	.	.	.	.	14/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	36948	110	65	SUCCESS
SLC16A4	9122	.	GRCh37	1	110921555	110921555	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	98	150	0	ENST00000369779.4:c.950T>G	p.Ile317Ser	p.I317S	ENST00000369779	NM_001201547.1	317	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS823.1	950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGATGAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF14,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000358794	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000369779	Transcript	.	.	ENSG00000168679	10925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	deleterious(0)	.	MOT5_HUMAN	SLC16A4	HGNC	.	.	UPI000004EE9B	SNV	SLC16A4,missense_variant,p.Ile317Ser,ENST00000369779,;SLC16A4,missense_variant,p.Ile255Ser,ENST00000541986,;SLC16A4,missense_variant,p.Ile84Ser,ENST00000467986,;SLC16A4,missense_variant,p.Ile269Ser,ENST00000472422,;SLC16A4,missense_variant,p.Ile207Ser,ENST00000437429,;SLC16A4,intron_variant,,ENST00000369781,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000590413,;SLC16A4,downstream_gene_variant,,ENST00000497687,;SLC16A4,3_prime_UTR_variant,,ENST00000492412,;SLC16A4,3_prime_UTR_variant,,ENST00000528649,;SLC16A4,intron_variant,,ENST00000461647,;	1200	150	175	SUCCESS
WDR77	79084	.	GRCh37	1	111986674	111986674	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	143	258	0	ENST00000235090.5:c.564+2T>G		p.X188_splice	ENST00000235090	NM_024102.2	188		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS835.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTACCTCG	NONE	.	.	.	.	.	ENSP00000235090	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000235090	Transcript	.	.	ENSG00000116455	29652	.	.	HIGH	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEP50_HUMAN	WDR77	HGNC	.	.	UPI0000047AC6	SNV	WDR77,splice_donor_variant,,ENST00000449340,;WDR77,splice_donor_variant,,ENST00000235090,;WDR77,splice_donor_variant,,ENST00000411751,;ATP5F1,upstream_gene_variant,,ENST00000369722,;RP11-552M11.4,upstream_gene_variant,,ENST00000416099,;RP11-552M11.4,upstream_gene_variant,,ENST00000445680,;Y_RNA,upstream_gene_variant,,ENST00000363020,;WDR77,splice_donor_variant,,ENST00000497278,;WDR77,splice_donor_variant,,ENST00000459665,;ATP5F1,upstream_gene_variant,,ENST00000493119,;	.	258	274	SUCCESS
NOTCH2	4853	.	GRCh37	1	120480003	120480003	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	107	0	ENST00000256646.2:c.3424A>G	p.Thr1142Ala	p.T1142A	ENST00000256646	NM_024408.3	1142	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS908.1	3424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTATAGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,PIRSF_domain:PIRSF002279,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000256646	.	21/34	.	.	.	.	.	.	.	.	.	21/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious(0.01)	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,missense_variant,p.Thr1142Ala,ENST00000256646,;NOTCH2,non_coding_transcript_exon_variant,,ENST00000478864,;	3644	107	122	SUCCESS
SHE	126669	.	GRCh37	1	154474168	154474206	+	inframe_deletion	In_Frame_Del	DEL	ATCAGACCCTGCAGGCTGTCGCGGGACAGCCGGCTGTCC	ATCAGACCCTGCAGGCTGTCGCGGGACAGCCGGCTGTCC	-	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	ATCAGACCCTGCAGGCTGTCGCGGGACAGCCGGCTGTCC	ATCAGACCCTGCAGGCTGTCGCGGGACAGCCGGCTGTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	36	0	ENST00000304760.2:c.297_335del	p.Lys99_Ile112delinsAsn	p.K99_I112delinsN	ENST00000304760	NM_001010846.2	99	aaGGACAGCCGGCTGTCCCGCGACAGCCTGCAGGGTCTGATt/aat	0	.	.	.	.	.	-	KDSRLSRDSLQGLI/N	protein_coding	YES	CCDS30877.1	297-335	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTGAATCAGACCCTGCAGGCTGTCGCGGGACAGCCGGCTGTCCTTGGG	NONE	.	.	hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF29	.	.	ENSP00000307369	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000304760	Transcript	.	.	ENSG00000169291	27004	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHE_HUMAN	SHE	HGNC	.	.	UPI00004588E0	deletion	SHE,inframe_deletion,p.Lys99_Ile112delinsAsn,ENST00000304760,;TDRD10,upstream_gene_variant,,ENST00000368482,;TDRD10,upstream_gene_variant,,ENST00000368480,;	384-422	36	56	SUCCESS
CLK2	1196	.	GRCh37	1	155233082	155233082	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	58	54	0	ENST00000368361.4:c.1427A>T	p.His476Leu	p.H476L	ENST00000368361		476	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS1107.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGATGCTGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF26,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000354856	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000361168	Transcript	.	.	ENSG00000176444	2069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.706)	.	deleterious(0.01)	.	CLK2_HUMAN	CLK2	HGNC	Q9BRG8_HUMAN,B7Z8N6_HUMAN	.	UPI0000169F47	SNV	CLK2,missense_variant,p.His475Leu,ENST00000361168,;CLK2,missense_variant,p.His476Leu,ENST00000536801,;CLK2,missense_variant,p.His474Leu,ENST00000355560,;CLK2,missense_variant,p.His476Leu,ENST00000368361,;SCAMP3,upstream_gene_variant,,ENST00000302631,;SCAMP3,upstream_gene_variant,,ENST00000355379,;CLK2,non_coding_transcript_exon_variant,,ENST00000476983,;CLK2,non_coding_transcript_exon_variant,,ENST00000497188,;SCAMP3,upstream_gene_variant,,ENST00000472397,;SCAMP3,upstream_gene_variant,,ENST00000480219,;SCAMP3,upstream_gene_variant,,ENST00000465312,;CLK2,downstream_gene_variant,,ENST00000471047,;SCAMP3,upstream_gene_variant,,ENST00000478737,;SCAMP3,upstream_gene_variant,,ENST00000490999,;SCAMP3,upstream_gene_variant,,ENST00000462151,;SCAMP3,upstream_gene_variant,,ENST00000497470,;	1511	54	95	SUCCESS
MSTO1	55154	.	GRCh37	1	155583257	155583257	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs536325674	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	335	12	253	0	ENST00000245564.2:c.1288C>A	p.Leu430Ile	p.L430I	ENST00000245564	NM_018116.3	430	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS1114.1	1288	MUTECT|MUSE	.	GCCAGCTCACC	NONE	byCluster	.	hmmpanther:PTHR13391	.	.	ENSP00000245564	.	12/14	.	.	.	.	.	.	.	.	rs536325674	12/14	PASS	ENST00000245564	Transcript	.	.	ENSG00000125459	29678	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.158)	.	tolerated(0.1)	.	MSTO1_HUMAN	MSTO1	HGNC	D3DV95_HUMAN	.	UPI000006F52F	SNV	MSTO1,missense_variant,p.Leu7Ile,ENST00000462250,;MSTO1,missense_variant,p.Leu395Ile,ENST00000368341,;MSTO1,missense_variant,p.Leu430Ile,ENST00000245564,;MSTO1,intron_variant,,ENST00000538143,;MSTO1,intron_variant,,ENST00000452804,;RP11-29H23.4,upstream_gene_variant,,ENST00000456382,;MSTO1,non_coding_transcript_exon_variant,,ENST00000475253,;MSTO1,non_coding_transcript_exon_variant,,ENST00000483734,;MSTO1,non_coding_transcript_exon_variant,,ENST00000466815,;MSTO1,downstream_gene_variant,,ENST00000465137,;MSTO1,downstream_gene_variant,,ENST00000483832,;MSTO1,downstream_gene_variant,,ENST00000488901,;MSTO1,downstream_gene_variant,,ENST00000491308,;MSTO1,downstream_gene_variant,,ENST00000490642,;MSTO1,downstream_gene_variant,,ENST00000473327,;MSTO1,3_prime_UTR_variant,,ENST00000490743,;MSTO1,non_coding_transcript_exon_variant,,ENST00000494995,;MSTO1,downstream_gene_variant,,ENST00000482284,;MSTO1,downstream_gene_variant,,ENST00000478756,;MSTO1,downstream_gene_variant,,ENST00000471209,;MSTO1,downstream_gene_variant,,ENST00000460199,;MSTO2P,intron_variant,,ENST00000538914,;RP11-29H23.5,downstream_gene_variant,,ENST00000500626,;	1312	253	347	SUCCESS
SMG7	9887	.	GRCh37	1	183515342	183515342	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	118	192	0	ENST00000347615.2:c.2612G>A	p.Trp871Ter	p.W871*	ENST00000347615	NM_173156.2	871	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS41445.2	2474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGGGATT	NONE	.	.	hmmpanther:PTHR15696:SF0,hmmpanther:PTHR15696	.	.	ENSP00000425133	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,stop_gained,p.Trp854Ter,ENST00000367537,;SMG7,stop_gained,p.Trp825Ter,ENST00000507469,;SMG7,stop_gained,p.Trp871Ter,ENST00000347615,;SMG7,stop_gained,p.Trp783Ter,ENST00000456731,;SMG7,stop_gained,p.Trp829Ter,ENST00000508461,;SMG7,stop_gained,p.Trp825Ter,ENST00000515829,;SMG7,downstream_gene_variant,,ENST00000419169,;SMG7,upstream_gene_variant,,ENST00000495321,;SMG7,upstream_gene_variant,,ENST00000493045,;	2592	192	247	SUCCESS
CALML6	163688	.	GRCh37	1	1847940	1847940	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150584821	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	109	0	ENST00000307786.3:c.139G>A	p.Glu47Lys	p.E47K	ENST00000307786	NM_138705.2	47	Gaa/Aaa	0	A:0.0009	A:0.0008	.	A:0	.	A	E/K	protein_coding	YES	CCDS30566.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGACGAAGAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF127,hmmpanther:PTHR23050,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	A:0	A:0	ENSP00000304643	A:0	3/6	.	.	.	.	.	.	.	.	rs150584821,COSM900884	3/6	PASS	ENST00000307786	Transcript	.	A:0.0002	ENSG00000169885	24193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.726)	A:0	tolerated(1)	0,1	CALL6_HUMAN	CALML6	HGNC	.	.	UPI000034EC9B	SNV	CALML6,missense_variant,p.Glu30Lys,ENST00000378604,;CALML6,missense_variant,p.Glu47Lys,ENST00000307786,;TMEM52,downstream_gene_variant,,ENST00000310991,;TMEM52,downstream_gene_variant,,ENST00000416272,;TMEM52,downstream_gene_variant,,ENST00000378598,;TMEM52,downstream_gene_variant,,ENST00000378602,;CALML6,intron_variant,,ENST00000462293,;CALML6,non_coding_transcript_exon_variant,,ENST00000482402,;TMEM52,downstream_gene_variant,,ENST00000602604,;TMEM52,downstream_gene_variant,,ENST00000470931,;	593	109	78	SUCCESS
HIST3H3	0	.	GRCh37	1	228612760	228612760	+	synonymous_variant	Silent	SNP	G	G	A	rs143686240	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	6	117	0	ENST00000366696.1:c.267C>T	p.Ala89=	p.A89=	ENST00000366696	NM_003493.2	89	gcC/gcT	0	A:0.0073	A:0.0106	.	A:0	.	A	A	protein_coding	YES	CCDS1572.1	267	MUTECT|MUSE	.	ATCACGGCCGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	A:0	A:0	ENSP00000355657	A:0	1/1	.	.	.	.	.	.	.	.	rs143686240	1/1	common_in_exac	ENST00000366696	Transcript	.	A:0.0028	ENSG00000168148	4778	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	H31T_HUMAN	HIST3H3	HGNC	.	.	UPI000000D7E2	SNV	HIST3H3,synonymous_variant,p.%3D,ENST00000366696,;	267	117	164	SUCCESS
C1orf101	0	.	GRCh37	1	244735632	244735632	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	159	321	0	ENST00000366534.4:c.1508A>G	p.Asp503Gly	p.D503G	ENST00000366534	NM_001130957.1	503	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS44340.1	1508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGATTATT	NONE	.	.	Pfam_domain:PF15020	.	.	ENSP00000355492	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000366534	Transcript	.	.	ENSG00000179397	28491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CA101_HUMAN	C1orf101	HGNC	.	.	UPI00004701CD	SNV	C1orf101,missense_variant,p.Asp423Gly,ENST00000428042,;C1orf101,missense_variant,p.Asp503Gly,ENST00000366533,;C1orf101,missense_variant,p.Asp503Gly,ENST00000366534,;C1orf101,missense_variant,p.Asp352Gly,ENST00000366531,;C1orf101,splice_region_variant,,ENST00000473875,;	1562	321	348	SUCCESS
MAP3K6	9064	.	GRCh37	1	27683225	27683225	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1192790793	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	44	0	ENST00000357582.2:c.3380C>T	p.Ala1127Val	p.A1127V	ENST00000357582		1127	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS299.1	3380	MUTECT|MUSE	.	AGACCGCCTCC	NONE	.	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF371	.	.	ENSP00000419591	.	26/30	.	.	.	.	.	.	.	.	COSM1602172,COSM1602171	26/30	PASS	ENST00000493901	Transcript	.	.	ENSG00000142733	6858	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.003)	.	tolerated(0.5)	1,1	M3K6_HUMAN	MAP3K6	HGNC	Q32MQ5_HUMAN	.	UPI0000205587	SNV	MAP3K6,missense_variant,p.Ala1119Val,ENST00000374040,;MAP3K6,missense_variant,p.Ala1127Val,ENST00000357582,;MAP3K6,missense_variant,p.Ala1127Val,ENST00000493901,;MAP3K6,intron_variant,,ENST00000472410,;MAP3K6,upstream_gene_variant,,ENST00000486046,;SYTL1,downstream_gene_variant,,ENST00000543823,;SYTL1,downstream_gene_variant,,ENST00000318074,;SYTL1,downstream_gene_variant,,ENST00000490170,;MAP3K6,non_coding_transcript_exon_variant,,ENST00000470890,;MAP3K6,non_coding_transcript_exon_variant,,ENST00000476509,;SYTL1,downstream_gene_variant,,ENST00000475199,;SYTL1,downstream_gene_variant,,ENST00000483926,;MAP3K6,downstream_gene_variant,,ENST00000495230,;	3620	44	44	SUCCESS
EDN2	1907	.	GRCh37	1	41948170	41948170	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	71	0	ENST00000372587.4:c.311C>A	p.Pro104His	p.P104H	ENST00000372587	NM_001956.3	104	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS462.1	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGGGTCC	NONE	.	.	hmmpanther:PTHR13874:SF8,hmmpanther:PTHR13874,PROSITE_patterns:PS00270,SMART_domains:SM00272	.	.	ENSP00000361668	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000372587	Transcript	.	.	ENSG00000127129	3177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	tolerated(0.15)	.	EDN2_HUMAN	EDN2	HGNC	.	.	UPI0000040AF7	SNV	EDN2,missense_variant,p.Pro104His,ENST00000372587,;EDN2,non_coding_transcript_exon_variant,,ENST00000490783,;EDN2,non_coding_transcript_exon_variant,,ENST00000467046,;EDN2,non_coding_transcript_exon_variant,,ENST00000460255,;EDN2,non_coding_transcript_exon_variant,,ENST00000467872,;	381	71	83	SUCCESS
FUBP1	8880	.	GRCh37	1	78444594	78444594	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1033225821	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	30	50	0	ENST00000370768.2:c.95A>G	p.Lys32Arg	p.K32R	ENST00000370768	NM_003902.3	32	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS683.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTTTGAAA	NONE	.	.	hmmpanther:PTHR10288:SF99,hmmpanther:PTHR10288	.	.	ENSP00000359804	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000370768	Transcript	.	.	ENSG00000162613	4004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	deleterious(0)	.	FUBP1_HUMAN	FUBP1	HGNC	.	.	UPI0000070218	SNV	FUBP1,missense_variant,p.Lys32Arg,ENST00000436586,;FUBP1,missense_variant,p.Lys32Arg,ENST00000370767,;FUBP1,missense_variant,p.Lys32Arg,ENST00000370768,;FUBP1,missense_variant,p.Lys32Arg,ENST00000421641,;DNAJB4,upstream_gene_variant,,ENST00000426517,;GIPC2,upstream_gene_variant,,ENST00000476882,;DNAJB4,upstream_gene_variant,,ENST00000484662,;DNAJB4,upstream_gene_variant,,ENST00000477671,;DNAJB4,upstream_gene_variant,,ENST00000487931,;FUBP1,missense_variant,p.Lys32Arg,ENST00000294623,;	177	50	56	SUCCESS
LAMP5	24141	.	GRCh37	20	9496958	9496958	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs761022614	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	94	0	ENST00000246070.2:c.425A>C	p.Gln142Pro	p.Q142P	ENST00000246070	NM_012261.3	142	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS13106.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCAGTTTG	NONE	.	.	hmmpanther:PTHR11506,Pfam_domain:PF01299	.	.	ENSP00000246070	.	4/6	.	.	.	.	.	.	.	.	rs761022614	4/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0.01)	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,missense_variant,p.Gln142Pro,ENST00000246070,;LAMP5,missense_variant,p.Gln98Pro,ENST00000427562,;RP5-1119D9.4,upstream_gene_variant,,ENST00000443469,;	917	94	103	SUCCESS
BRWD1	54014	.	GRCh37	21	40570714	40570714	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs892013386	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	123	0	ENST00000333229.2:c.5628A>G	p.Ile1876Met	p.I1876M	ENST00000333229	NM_018963.4	1876	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS13662.1	5628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTATTTT	NONE	.	.	hmmpanther:PTHR16266:SF26,hmmpanther:PTHR16266	.	.	ENSP00000330753	.	40/42	.	.	.	.	.	.	.	.	.	40/42	PASS	ENST00000333229	Transcript	.	.	ENSG00000185658	12760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated_low_confidence(0.08)	.	BRWD1_HUMAN	BRWD1	HGNC	.	.	UPI0000163C12	SNV	BRWD1,missense_variant,p.Ile1876Met,ENST00000342449,;BRWD1,missense_variant,p.Ile1876Met,ENST00000380800,;BRWD1,missense_variant,p.Ile1876Met,ENST00000333229,;BRWD1,downstream_gene_variant,,ENST00000424441,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,downstream_gene_variant,,ENST00000491564,;	5956	123	91	SUCCESS
FTCD	10841	.	GRCh37	21	47557204	47557205	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	40	0	ENST00000291670.5:c.1487dup	p.Asn497GlnfsTer15	p.N497Qfs*15	ENST00000291670	NM_006657.2	496	ttc/ttTc	0	.	.	.	.	.	A	F/FX	protein_coding	YES	CCDS13731.1	1487-1488	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGTTGAAATA	BUFFER|p.V498M|c.1492G>A|3	.	.	hmmpanther:PTHR12234:SF0,hmmpanther:PTHR12234,Pfam_domain:PF04961,Superfamily_domains:0041691	.	.	ENSP00000291670	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000291670	Transcript	.	.	ENSG00000160282	3974	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FTCD_HUMAN	FTCD	HGNC	Q49AR5_HUMAN,D3DSM8_HUMAN	.	UPI000012AC75	insertion	FTCD,frameshift_variant,p.Asn497GlnfsTer15,ENST00000397746,;FTCD,frameshift_variant,p.Asn497GlnfsTer15,ENST00000359679,;FTCD,frameshift_variant,p.Asn497GlnfsTer15,ENST00000291670,;FTCD,frameshift_variant,p.Gln482SerfsTer7,ENST00000397743,;FTCD,frameshift_variant,p.Gln482SerfsTer7,ENST00000355384,;FTCD,frameshift_variant,p.Asn38GlnfsTer15,ENST00000446405,;FTCD,frameshift_variant,p.Asn497GlnfsTer15,ENST00000397748,;COL6A2,downstream_gene_variant,,ENST00000300527,;FTCD,non_coding_transcript_exon_variant,,ENST00000460011,;FTCD,non_coding_transcript_exon_variant,,ENST00000494498,;FTCD,non_coding_transcript_exon_variant,,ENST00000498355,;FTCD,non_coding_transcript_exon_variant,,ENST00000483568,;FTCD,downstream_gene_variant,,ENST00000488577,;	1531-1532	40	74	SUCCESS
SF3A1	10291	.	GRCh37	22	30731656	30731656	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	93	0	ENST00000215793.8:c.2193C>G	p.Leu731=	p.L731=	ENST00000215793	NM_005877.4	731	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13875.1	2193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGAGGGT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR15316,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000215793	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000215793	Transcript	.	.	ENSG00000099995	10765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SF3A1_HUMAN	SF3A1	HGNC	.	.	UPI0000000C88	SNV	SF3A1,synonymous_variant,p.%3D,ENST00000215793,;SF3A1,synonymous_variant,p.%3D,ENST00000439242,;SF3A1,downstream_gene_variant,,ENST00000444440,;SF3A1,downstream_gene_variant,,ENST00000411423,;SF3A1,downstream_gene_variant,,ENST00000498259,;SF3A1,downstream_gene_variant,,ENST00000485618,;	2348	93	95	SUCCESS
HMGXB4	10042	.	GRCh37	22	35689064	35689064	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	98	0	ENST00000216106.5:c.1718C>G	p.Thr573Ser	p.T573S	ENST00000216106	NM_001003681.2	573	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS33641.1	1718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCACCACAC	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169	.	.	ENSP00000216106	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000216106	Transcript	.	.	ENSG00000100281	5003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	HMGX4_HUMAN	HMGXB4	HGNC	Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN	.	UPI00003765B4	SNV	HMGXB4,missense_variant,p.Thr464Ser,ENST00000444518,;HMGXB4,missense_variant,p.Thr573Ser,ENST00000216106,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000498212,;	1846	98	104	SUCCESS
SH3BP1	23616	.	GRCh37	22	38049838	38049838	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373477637	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	113	268	0	ENST00000357436.4:c.1651C>T	p.Pro551Ser	p.P551S	ENST00000357436	NM_018957.3	551	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS13952.2	1651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCCCCCG	NONE	.	.	hmmpanther:PTHR14130:SF12,hmmpanther:PTHR14130	.	.	ENSP00000350018	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000357436	Transcript	.	.	ENSG00000100092	10824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.59)	.	3BP1_HUMAN	SH3BP1	HGNC	F8WEQ3_HUMAN	.	UPI000004EE00	SNV	SH3BP1,missense_variant,p.Pro487Ser,ENST00000599616,;SH3BP1,missense_variant,p.Pro551Ser,ENST00000357436,;SH3BP1,downstream_gene_variant,,ENST00000336738,;SH3BP1,downstream_gene_variant,,ENST00000442465,;PDXP,upstream_gene_variant,,ENST00000215904,;Z83844.1,intron_variant,,ENST00000456099,;SH3BP1,3_prime_UTR_variant,,ENST00000417536,;SH3BP1,3_prime_UTR_variant,,ENST00000451997,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000469947,;SH3BP1,downstream_gene_variant,,ENST00000466097,;	1964	268	264	SUCCESS
RGPD4	285190	.	GRCh37	2	108487699	108487699	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	75	0	ENST00000408999.3:c.3239G>A	p.Arg1080Lys	p.R1080K	ENST00000408999	NM_182588.2	1080	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS46381.1	3239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGGGGCT	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Arg1080Lys,ENST00000408999,;RGPD4,missense_variant,p.Arg1080Lys,ENST00000354986,;	3316	75	63	SUCCESS
THSD7B	80731	.	GRCh37	2	137852495	137852495	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	51	123	0	ENST00000272643.3:c.1003A>G	p.Lys335Glu	p.K335E	ENST00000272643		335	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	.	1003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAAAGAC	NONE	.	.	hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Gene3D:2.20.100.10	.	.	ENSP00000272643	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0.04)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Lys194Glu,ENST00000543459,;THSD7B,missense_variant,p.Lys335Glu,ENST00000409968,;THSD7B,missense_variant,p.Lys304Glu,ENST00000413152,;THSD7B,missense_variant,p.Lys335Glu,ENST00000272643,;	1003	123	97	SUCCESS
SCN2A	6326	.	GRCh37	2	166245957	166245957	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	87	238	0	ENST00000283256.6:c.5641del	p.Glu1881SerfsTer20	p.E1881Sfs*20	ENST00000283256	NM_021007.2	1881	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS33313.1	5641	VARSCANI*|PINDEL	.	ATGGAAGAGCGA	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037	.	.	ENSP00000349973	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	deletion	SCN2A,frameshift_variant,p.Glu1881SerfsTer20,ENST00000283256,;SCN2A,frameshift_variant,p.Glu1881SerfsTer20,ENST00000375437,;SCN2A,frameshift_variant,p.Glu1881SerfsTer20,ENST00000375427,;SCN2A,frameshift_variant,p.Glu1881SerfsTer20,ENST00000357398,;	5931	238	249	SUCCESS
XIRP2	129446	.	GRCh37	2	168105583	168105583	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	109	282	1	ENST00000409195.1:c.7681C>A	p.Gln2561Lys	p.Q2561K	ENST00000409195	NM_152381.5	2561	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS42769.1	7681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACAGAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Gln2339Lys,ENST00000409273,;XIRP2,missense_variant,p.Gln2561Lys,ENST00000409195,;XIRP2,missense_variant,p.Gln2561Lys,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	7770	283	223	SUCCESS
EVX2	344191	.	GRCh37	2	176944974	176944974	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	14	0	ENST00000308618.4:c.1292C>T	p.Ala431Val	p.A431V	ENST00000308618	NM_001080458.1	431	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33333.1	1292	RADIA|MUTECT|MUSE	.	CCCCGGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF289,hmmpanther:PTHR24329	.	.	ENSP00000312385	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308618	Transcript	.	.	ENSG00000174279	3507	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.483)	.	tolerated_low_confidence(0.09)	.	EVX2_HUMAN	EVX2	HGNC	.	.	UPI000012A2AF	SNV	EVX2,missense_variant,p.Ala431Val,ENST00000308618,;	1429	14	25	SUCCESS
MAPRE3	22924	.	GRCh37	2	27245167	27245167	+	synonymous_variant	Silent	SNP	C	C	T	rs1384264915	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	74	0	ENST00000233121.2:c.81C>T	p.Ser27=	p.S27=	ENST00000233121		27	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1731.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCCTGCA	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR10623,hmmpanther:PTHR10623:SF10,Pfam_domain:PF00307,Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000233121	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000233121	Transcript	.	.	ENSG00000084764	6892	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARE3_HUMAN	MAPRE3	HGNC	C9JB30_HUMAN	.	UPI000012EB1C	SNV	MAPRE3,synonymous_variant,p.%3D,ENST00000458529,;MAPRE3,synonymous_variant,p.%3D,ENST00000402218,;MAPRE3,synonymous_variant,p.%3D,ENST00000233121,;MAPRE3,synonymous_variant,p.%3D,ENST00000405074,;MAPRE3,non_coding_transcript_exon_variant,,ENST00000491354,;MAPRE3,non_coding_transcript_exon_variant,,ENST00000481222,;MAPRE3,non_coding_transcript_exon_variant,,ENST00000474367,;MAPRE3,non_coding_transcript_exon_variant,,ENST00000475633,;MAPRE3,non_coding_transcript_exon_variant,,ENST00000494788,;	279	74	63	SUCCESS
CCDC104	0	.	GRCh37	2	55750945	55750945	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	75	284	0	ENST00000349456.4:c.269C>G	p.Thr90Ser	p.T90S	ENST00000349456		90	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS1854.2	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGACCCATA	NONE	.	.	hmmpanther:PTHR21532,hmmpanther:PTHR21532:SF0,Gene3D:2k0sA00,Pfam_domain:PF11527	.	.	ENSP00000295117	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000349456	Transcript	.	.	ENSG00000163001	30540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	CC104_HUMAN	CCDC104	HGNC	.	.	UPI000013E20A	SNV	CCDC104,missense_variant,p.Thr115Ser,ENST00000339012,;CCDC104,missense_variant,p.Thr90Ser,ENST00000403007,;CCDC104,missense_variant,p.Thr90Ser,ENST00000349456,;CCDC104,missense_variant,p.Thr90Ser,ENST00000407816,;CCDC104,missense_variant,p.Thr90Ser,ENST00000406691,;	417	284	240	SUCCESS
NIT2	56954	.	GRCh37	3	100059950	100059950	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769700861	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	85	0	ENST00000394140.4:c.281A>G	p.Tyr94Cys	p.Y94C	ENST00000394140	NM_020202.4	94	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33806.1	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATATAACA	NONE	.	.	PROSITE_profiles:PS50263,hmmpanther:PTHR23088:SF20,hmmpanther:PTHR23088,Gene3D:3.60.110.10,Pfam_domain:PF00795,Superfamily_domains:SSF56317	.	.	ENSP00000377696	.	4/10	.	.	.	.	.	.	.	.	rs769700861	4/10	PASS	ENST00000394140	Transcript	.	.	ENSG00000114021	29878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NIT2_HUMAN	NIT2	HGNC	.	.	UPI000004A5A7	SNV	NIT2,missense_variant,p.Tyr188Cys,ENST00000497785,;NIT2,missense_variant,p.Tyr94Cys,ENST00000394140,;NIT2,3_prime_UTR_variant,,ENST00000460317,;NIT2,3_prime_UTR_variant,,ENST00000480073,;NIT2,non_coding_transcript_exon_variant,,ENST00000478856,;NIT2,non_coding_transcript_exon_variant,,ENST00000472392,;NIT2,non_coding_transcript_exon_variant,,ENST00000465368,;	372	85	91	SUCCESS
ATP2B2	491	.	GRCh37	3	10384604	10384604	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	62	0	ENST00000352432.4:c.2749A>T	p.Met917Leu	p.M917L	ENST00000352432		917	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS33701.1	2749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATGATGA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00689,Gene3D:1.20.1110.10,Superfamily_domains:SSF56784,Superfamily_domains:0049473	.	.	ENSP00000353414	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.02)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Met903Leu,ENST00000343816,;ATP2B2,missense_variant,p.Met917Leu,ENST00000360273,;ATP2B2,missense_variant,p.Met872Leu,ENST00000383800,;ATP2B2,missense_variant,p.Met917Leu,ENST00000352432,;ATP2B2,missense_variant,p.Met872Leu,ENST00000397077,;ATP2B2,missense_variant,p.Met773Leu,ENST00000452124,;ATP2B2,missense_variant,p.Met872Leu,ENST00000460129,;	3188	62	81	SUCCESS
WDR5B	54554	.	GRCh37	3	122133978	122133978	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs775964320	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	155	0	ENST00000330689.4:c.398T>G	p.Phe133Cys	p.F133C	ENST00000330689	NM_019069.3	133	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS3012.1	398	RADIA|MUTECT|MUSE	.	GATTGAAGTTA	NONE	byFrequency	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF308,hmmpanther:PTHR22847,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000330381	.	1/1	.	.	.	.	.	.	.	.	rs775964320	1/1	PASS	ENST00000330689	Transcript	.	.	ENSG00000196981	17826	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	WDR5B_HUMAN	WDR5B	HGNC	.	.	UPI000000DA52	SNV	WDR5B,missense_variant,p.Phe133Cys,ENST00000330689,;FAM162A,downstream_gene_variant,,ENST00000477892,;RP11-299J3.8,upstream_gene_variant,,ENST00000608015,;RP11-299J3.8,upstream_gene_variant,,ENST00000608346,;RP11-299J3.8,upstream_gene_variant,,ENST00000609469,;RP11-299J3.8,upstream_gene_variant,,ENST00000608756,;RP11-299J3.8,upstream_gene_variant,,ENST00000608465,;RP11-299J3.6,downstream_gene_variant,,ENST00000472671,;	905	155	91	SUCCESS
WDR5B	54554	.	GRCh37	3	122133991	122133991	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	155	0	ENST00000330689.4:c.385T>G	p.Phe129Val	p.F129V	ENST00000330689	NM_019069.3	129	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS3012.1	385	RADIA|MUTECT|MUSE	.	ACAAAAGACAT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF308,hmmpanther:PTHR22847,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000330381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330689	Transcript	.	.	ENSG00000196981	17826	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	WDR5B_HUMAN	WDR5B	HGNC	.	.	UPI000000DA52	SNV	WDR5B,missense_variant,p.Phe129Val,ENST00000330689,;FAM162A,downstream_gene_variant,,ENST00000477892,;RP11-299J3.8,upstream_gene_variant,,ENST00000608015,;RP11-299J3.8,upstream_gene_variant,,ENST00000608346,;RP11-299J3.8,upstream_gene_variant,,ENST00000609469,;RP11-299J3.8,upstream_gene_variant,,ENST00000608756,;RP11-299J3.8,upstream_gene_variant,,ENST00000608465,;RP11-299J3.6,downstream_gene_variant,,ENST00000472671,;	892	155	88	SUCCESS
MYLK	4638	.	GRCh37	3	123452969	123452969	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	418	352	876	0	ENST00000360304.3:c.874G>A	p.Ala292Thr	p.A292T	ENST00000360304	NM_053025.3	292	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46896.1	874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCTGCAG	NONE	.	.	hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44	.	.	ENSP00000353452	.	10/34	.	.	.	.	.	.	.	.	COSM1216274	10/34	PASS	ENST00000360304	Transcript	.	.	ENSG00000065534	7590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.186)	.	tolerated(0.38)	1	MYLK_HUMAN	MYLK	HGNC	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN	.	UPI000020A0AE	SNV	MYLK,missense_variant,p.Ala292Thr,ENST00000360304,;MYLK,missense_variant,p.Ala292Thr,ENST00000360772,;MYLK,missense_variant,p.Ala292Thr,ENST00000346322,;MYLK,missense_variant,p.Ala292Thr,ENST00000359169,;MYLK,missense_variant,p.Ala292Thr,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000514623,;MYLK,downstream_gene_variant,,ENST00000510571,;MYLK,downstream_gene_variant,,ENST00000506361,;	1156	876	771	SUCCESS
SEC61A1	29927	.	GRCh37	3	127784015	127784015	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	23	0	ENST00000243253.3:c.777+135A>C		p.*259*	ENST00000243253	NM_013336.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3046.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGCAGG	NONE	.	.	.	.	.	ENSP00000243253	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000243253	Transcript	.	.	ENSG00000058262	18276	.	.	MODIFIER	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S61A1_HUMAN	SEC61A1	HGNC	B3KNG2_HUMAN,C9JXC6_HUMAN,B3KNF6_HUMAN,B3KME8_HUMAN	.	UPI00000041A9	SNV	RUVBL1,synonymous_variant,p.%3D,ENST00000472125,;RUVBL1,3_prime_UTR_variant,,ENST00000464873,;SEC61A1,intron_variant,,ENST00000424880,;SEC61A1,intron_variant,,ENST00000243253,;SEC61A1,intron_variant,,ENST00000464451,;SEC61A1,downstream_gene_variant,,ENST00000481210,;SEC61A1,non_coding_transcript_exon_variant,,ENST00000483956,;SEC61A1,upstream_gene_variant,,ENST00000498837,;RUVBL1,3_prime_UTR_variant,,ENST00000585057,;	.	23	21	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913400	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	172	0	ENST00000349496.5:c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000349496	NM_001904.3	33	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33Y|c.98C>A|73,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33C|c.98C>G|191,CODON|p.S33F|c.98C>T|110,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.64)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	172	134	SUCCESS
SETD2	29072	.	GRCh37	3	47161866	47161866	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	22	139	0	ENST00000409792.3:c.4260G>A	p.Glu1420=	p.E1420=	ENST00000409792	NM_014159.6	1420	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS2749.2	4260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCTCACC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,synonymous_variant,p.%3D,ENST00000409792,;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,synonymous_variant,p.%3D,ENST00000445387,;SETD2,synonymous_variant,p.%3D,ENST00000330022,;SETD2,synonymous_variant,p.%3D,ENST00000431180,;	4303	139	110	SUCCESS
EMCN	51705	.	GRCh37	4	101401107	101401107	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759272822	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	101	0	ENST00000296420.4:c.154G>A	p.Val52Ile	p.V52I	ENST00000296420	NM_001159694.1	52	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS3655.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAACATTTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15869,Pfam_domain:PF07010	.	.	ENSP00000296420	.	2/12	.	.	.	.	.	.	.	.	rs759272822	2/12	PASS	ENST00000296420	Transcript	.	.	ENSG00000164035	16041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	tolerated(0.24)	.	MUCEN_HUMAN	EMCN	HGNC	Q53H40_HUMAN,Q4W5J1_HUMAN	.	UPI000003777D	SNV	EMCN,missense_variant,p.Val52Ile,ENST00000305864,;EMCN,missense_variant,p.Val52Ile,ENST00000296420,;EMCN,missense_variant,p.Val52Ile,ENST00000511970,;EMCN,missense_variant,p.Val52Ile,ENST00000502569,;EMCN,upstream_gene_variant,,ENST00000506300,;EMCN,non_coding_transcript_exon_variant,,ENST00000512253,;EMCN,non_coding_transcript_exon_variant,,ENST00000502327,;EMCN,non_coding_transcript_exon_variant,,ENST00000506323,;EMCN,downstream_gene_variant,,ENST00000502744,;EMCN,downstream_gene_variant,,ENST00000510657,;	333	101	76	SUCCESS
FAT4	79633	.	GRCh37	4	126371527	126371527	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1325978882	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	112	0	ENST00000394329.3:c.9356C>T	p.Ala3119Val	p.A3119V	ENST00000394329	NM_024582.4	3119	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3732.3	9356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCGATGA	BUFFER|p.G3122D|c.9365G>A|3,BUFFER|p.G3122D|c.9365G>A|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ala3119Val,ENST00000394329,;FAT4,missense_variant,p.Ala1417Val,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	9369	112	61	SUCCESS
TXK	7294	.	GRCh37	4	48082049	48082049	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	97	0	ENST00000264316.4:c.1053G>T	p.Leu351=	p.L351=	ENST00000264316	NM_003328.2	351	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3480.1	1053	MUTECT|MUSE	.	TTAAGCAGGCA	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159,PROSITE_profiles:PS50011	.	.	ENSP00000264316	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000264316	Transcript	.	.	ENSG00000074966	12434	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TXK_HUMAN	TXK	HGNC	Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN	.	UPI000013D4F9	SNV	TXK,synonymous_variant,p.%3D,ENST00000264316,;TXK,synonymous_variant,p.%3D,ENST00000507351,;TXK,synonymous_variant,p.%3D,ENST00000509681,;TXK,synonymous_variant,p.%3D,ENST00000514937,;	1139	97	79	SUCCESS
PCDHA10	56139	.	GRCh37	5	140235813	140235813	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	102	176	0	ENST00000307360.5:c.180G>A	p.Gln60=	p.Q60=	ENST00000307360	NM_018901.2	60	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS54921.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGCGCCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000506939,;PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;	180	176	119	SUCCESS
PDE6A	5145	.	GRCh37	5	149324276	149324276	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	0	18	41	0	ENST00000255266.5:c.-40T>C		p.*14*	ENST00000255266	NM_000440.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4299.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGACGGAG	NONE	.	.	.	.	.	ENSP00000255266	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,5_prime_UTR_variant,,ENST00000255266,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	81	41	18	SUCCESS
RNF145	153830	.	GRCh37	5	158603773	158603774	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CAAGG	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	97	152	417	0	ENST00000424310.2:c.483_487dup	p.Val163AlafsTer16	p.V163Afs*16	ENST00000424310	NM_001199383.1	163	gtt/gCCTTGtt	0	.	.	.	.	.	CAAGG	V/ALX	protein_coding	YES	CCDS56393.1	577-578	INDELOCATOR|VARSCANI	.	AAGGAACAAGG	NONE	.	.	Pfam_domain:PF13705,hmmpanther:PTHR12477:SF68,hmmpanther:PTHR12477,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000430955	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	insertion	RNF145,frameshift_variant,p.Val177AlafsTer16,ENST00000520638,;RNF145,frameshift_variant,p.Val180AlafsTer16,ENST00000521606,;RNF145,frameshift_variant,p.Val163AlafsTer16,ENST00000519865,;RNF145,frameshift_variant,p.Val191AlafsTer16,ENST00000274542,;RNF145,frameshift_variant,p.Val193AlafsTer16,ENST00000518802,;RNF145,frameshift_variant,p.Val163AlafsTer16,ENST00000424310,;RNF145,upstream_gene_variant,,ENST00000521266,;	727-728	417	249	SUCCESS
PDCD6	10016	.	GRCh37	5	271812	271812	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs572240960	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	23	0	ENST00000264933.4:c.-24C>G		p.*8*	ENST00000264933	NM_001267556.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3854.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCAGCCC	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000264933	.	1/6	.	.	.	.	.	.	.	.	rs572240960	1/6	PASS	ENST00000264933	Transcript	.	.	ENSG00000249915	8765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDCD6_HUMAN	PDCD6	HGNC	Q86W51_HUMAN	.	UPI00001313D9	SNV	PDCD6,5_prime_UTR_variant,,ENST00000505221,;PDCD6,5_prime_UTR_variant,,ENST00000507528,;PDCD6,5_prime_UTR_variant,,ENST00000509581,;PDCD6,5_prime_UTR_variant,,ENST00000264933,;PDCD6,upstream_gene_variant,,ENST00000507473,;CTD-2083E4.6,upstream_gene_variant,,ENST00000512642,;PDCD6,5_prime_UTR_variant,,ENST00000505526,;PDCD6,5_prime_UTR_variant,,ENST00000506909,;PDCD6,non_coding_transcript_exon_variant,,ENST00000515587,;PDCD6,non_coding_transcript_exon_variant,,ENST00000513582,;	77	23	23	SUCCESS
RICTOR	253260	.	GRCh37	5	38967502	38967502	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	86	145	0	ENST00000357387.3:c.1088G>A	p.Arg363Lys	p.R363K	ENST00000357387	NM_152756.3	363	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS34148.1	1088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCTCCAA	NONE	.	.	Pfam_domain:PF14664,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	13/38	.	.	.	.	.	.	.	.	.	13/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.53)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Arg363Lys,ENST00000357387,;RICTOR,missense_variant,p.Arg363Lys,ENST00000296782,;RICTOR,non_coding_transcript_exon_variant,,ENST00000509567,;RICTOR,3_prime_UTR_variant,,ENST00000511516,;RICTOR,non_coding_transcript_exon_variant,,ENST00000515846,;RICTOR,downstream_gene_variant,,ENST00000510711,;	1119	145	95	SUCCESS
GRIK2	2898	.	GRCh37	6	102503227	102503227	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	125	0	ENST00000421544.1:c.2334T>G	p.Ile778Met	p.I778M	ENST00000421544	NM_021956.4	778	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS5048.1	2334	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATTACCAT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000397026	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	tolerated(0.06)	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,missense_variant,p.Ile778Met,ENST00000369138,;GRIK2,missense_variant,p.Ile778Met,ENST00000413795,;GRIK2,missense_variant,p.Ile778Met,ENST00000318991,;GRIK2,missense_variant,p.Ile778Met,ENST00000421544,;GRIK2,missense_variant,p.Ile729Met,ENST00000369134,;GRIK2,missense_variant,p.Ile702Met,ENST00000369137,;	2824	125	80	SUCCESS
SYNJ2	8871	.	GRCh37	6	158510898	158510898	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1583515361	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	97	0	ENST00000355585.4:c.3484C>T	p.Pro1162Ser	p.P1162S	ENST00000355585	NM_001178088.1	1162	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS5254.1	3484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAACCTTAT	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98	.	.	ENSP00000347792	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000355585	Transcript	.	.	ENSG00000078269	11504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	SYNJ2_HUMAN	SYNJ2	HGNC	B4DLC4_HUMAN	.	UPI000006E2F8	SNV	SYNJ2,missense_variant,p.Pro1162Ser,ENST00000367121,;SYNJ2,missense_variant,p.Pro1162Ser,ENST00000355585,;SYNJ2,missense_variant,p.Pro247Ser,ENST00000367112,;SYNJ2,missense_variant,p.Pro1117Ser,ENST00000367122,;	3559	97	72	SUCCESS
POM121L2	94026	.	GRCh37	6	27277263	27277263	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	64	123	0	ENST00000444565.1:c.2687C>G	p.Thr896Ser	p.T896S	ENST00000444565	NM_033482.3	896	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS59497.1	2687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGGTCACG	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	.	.	ENSP00000392726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444565	Transcript	.	.	ENSG00000158553	13973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.08)	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,missense_variant,p.Thr896Ser,ENST00000444565,;POM121L2,missense_variant,p.Thr832Ser,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;	2687	123	99	SUCCESS
MDGA1	266727	.	GRCh37	6	37614143	37614143	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	27	55	0	ENST00000434837.3:c.2055G>A	p.Gln685=	p.Q685=	ENST00000434837	NM_153487.3	685	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS47417.1	2055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGCTGGTT	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50853	.	.	ENSP00000402584	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	SNV	MDGA1,synonymous_variant,p.%3D,ENST00000418178,;MDGA1,synonymous_variant,p.%3D,ENST00000505425,;MDGA1,synonymous_variant,p.%3D,ENST00000297153,;MDGA1,synonymous_variant,p.%3D,ENST00000434837,;MDGA1,non_coding_transcript_exon_variant,,ENST00000510077,;MDGA1,upstream_gene_variant,,ENST00000503419,;MDGA1,synonymous_variant,p.%3D,ENST00000502298,;MDGA1,downstream_gene_variant,,ENST00000478143,;	3234	55	40	SUCCESS
GLTSCR1L	0	.	GRCh37	6	42797158	42797158	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs367929984	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	92	0	ENST00000314073.5:c.1087A>T	p.Ile363Phe	p.I363F	ENST00000314073		363	Att/Ttt	0	G:0	.	.	.	.	T	I/F	protein_coding	YES	CCDS34451.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACATTGTA	NONE	.	.	hmmpanther:PTHR15572:SF2,hmmpanther:PTHR15572	.	G:0.0001	ENSP00000313933	.	6/13	.	.	.	.	.	.	.	.	rs367929984	6/13	PASS	ENST00000314073	Transcript	.	.	ENSG00000112624	21111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	GSC1L_HUMAN	GLTSCR1L	HGNC	.	.	UPI0000161939	SNV	GLTSCR1L,missense_variant,p.Ile363Phe,ENST00000394168,;GLTSCR1L,missense_variant,p.Ile363Phe,ENST00000314073,;	1263	92	68	SUCCESS
PKHD1	5314	.	GRCh37	6	51609283	51609283	+	synonymous_variant	Silent	SNP	A	A	G	rs1440812247	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	76	0	ENST00000371117.3:c.10056T>C	p.Tyr3352=	p.Y3352=	ENST00000371117	NM_138694.3	3352	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS4935.1	10056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGATATTT	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	60/67	.	.	.	.	.	.	.	.	.	60/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,synonymous_variant,p.%3D,ENST00000340994,;PKHD1,synonymous_variant,p.%3D,ENST00000371117,;	10332	76	65	SUCCESS
MACC1	346389	.	GRCh37	7	20199561	20199561	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	83	0	ENST00000332878.4:c.423A>C	p.Ser141=	p.S141=	ENST00000332878		141	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS5369.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTGAAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,synonymous_variant,p.%3D,ENST00000589011,;MACC1,synonymous_variant,p.%3D,ENST00000400331,;MACC1,synonymous_variant,p.%3D,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	732	83	78	SUCCESS
HOXA7	3204	.	GRCh37	7	27194719	27194719	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	52	142	0	ENST00000242159.3:c.502T>G	p.Cys168Gly	p.C168G	ENST00000242159	NM_006896.3	168	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS5408.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGAGCG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF163,hmmpanther:PTHR24326,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024	.	.	ENSP00000242159	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242159	Transcript	.	.	ENSG00000122592	5108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0.01)	.	HXA7_HUMAN	HOXA7	HGNC	E5RHM9_HUMAN	.	UPI000013CAF3	SNV	HOXA7,missense_variant,p.Cys168Gly,ENST00000242159,;HOXA7,downstream_gene_variant,,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;HOXA7,non_coding_transcript_exon_variant,,ENST00000523796,;HOXA6,upstream_gene_variant,,ENST00000521478,;HOXA3,upstream_gene_variant,,ENST00000518451,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;	636	142	118	SUCCESS
TBX20	57057	.	GRCh37	7	35293157	35293157	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	41	0	ENST00000408931.3:c.75G>C	p.Ser25=	p.S25=	ENST00000408931	NM_001077653.2	25	tcG/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS43568.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTCGACAT	NONE	.	.	hmmpanther:PTHR11267	.	.	ENSP00000386170	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000408931	Transcript	.	.	ENSG00000164532	11598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBX20_HUMAN	TBX20	HGNC	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN	.	UPI00004B23D3	SNV	TBX20,synonymous_variant,p.%3D,ENST00000408931,;AC009531.2,downstream_gene_variant,,ENST00000442323,;TBX20,non_coding_transcript_exon_variant,,ENST00000492961,;	602	41	47	SUCCESS
RALA	5898	.	GRCh37	7	39730078	39730078	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	109	0	ENST00000005257.2:c.212G>A	p.Gly71Glu	p.G71E	ENST00000005257	NM_005402.3	71	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS5460.1	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGCAGG	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00175,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF174,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000005257	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000005257	Transcript	.	.	ENSG00000006451	9839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RALA_HUMAN	RALA	HGNC	C9JPE8_HUMAN	.	UPI0000001C8F	SNV	RALA,missense_variant,p.Gly71Glu,ENST00000436179,;RALA,missense_variant,p.Gly71Glu,ENST00000005257,;RALA,intron_variant,,ENST00000468201,;RALA,missense_variant,p.Gly65Glu,ENST00000434466,;	592	109	104	SUCCESS
CNPY4	245812	.	GRCh37	7	99720107	99720107	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	55	104	0	ENST00000262932.3:c.249G>A	p.Glu83=	p.E83=	ENST00000262932	NM_152755.1	83	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS34701.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGACAAG	NONE	.	.	hmmpanther:PTHR15382:SF3,hmmpanther:PTHR15382,Pfam_domain:PF11938	.	.	ENSP00000262932	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000262932	Transcript	.	.	ENSG00000166997	28631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPY4_HUMAN	CNPY4	HGNC	.	.	UPI000003B115	SNV	CNPY4,synonymous_variant,p.%3D,ENST00000262932,;MBLAC1,upstream_gene_variant,,ENST00000398075,;TAF6,upstream_gene_variant,,ENST00000449571,;TAF6,upstream_gene_variant,,ENST00000431404,;TAF6,upstream_gene_variant,,ENST00000437822,;TAF6,upstream_gene_variant,,ENST00000523306,;TAF6,upstream_gene_variant,,ENST00000451699,;TAF6,upstream_gene_variant,,ENST00000452041,;TAF6,upstream_gene_variant,,ENST00000417349,;TAF6,upstream_gene_variant,,ENST00000344095,;TAF6,upstream_gene_variant,,ENST00000418432,;TAF6,upstream_gene_variant,,ENST00000453269,;MBLAC1,upstream_gene_variant,,ENST00000421390,;TAF6,upstream_gene_variant,,ENST00000440225,;TAF6,upstream_gene_variant,,ENST00000493322,;TAF6,upstream_gene_variant,,ENST00000452438,;TAF6,upstream_gene_variant,,ENST00000520135,;TAF6,upstream_gene_variant,,ENST00000460673,;RP11-506M12.1,intron_variant,,ENST00000494221,;CNPY4,non_coding_transcript_exon_variant,,ENST00000480692,;CNPY4,non_coding_transcript_exon_variant,,ENST00000483756,;CNPY4,downstream_gene_variant,,ENST00000470153,;TAF6,upstream_gene_variant,,ENST00000497233,;CNPY4,non_coding_transcript_exon_variant,,ENST00000462193,;TAF6,upstream_gene_variant,,ENST00000421980,;TAF6,upstream_gene_variant,,ENST00000487288,;	381	104	96	SUCCESS
OXR1	55074	.	GRCh37	8	107531242	107531242	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	111	244	0	ENST00000442977.2:c.98A>T	p.Gln33Leu	p.Q33L	ENST00000442977	NM_001198532.1	33	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS56548.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCAAACAC	NONE	.	.	hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354	.	.	ENSP00000405424	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.46)	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,missense_variant,p.Gln33Leu,ENST00000442977,;OXR1,missense_variant,p.Gln32Leu,ENST00000517566,;OXR1,missense_variant,p.Gln32Leu,ENST00000445937,;OXR1,missense_variant,p.Gln32Leu,ENST00000531443,;OXR1,5_prime_UTR_variant,,ENST00000452423,;RP11-649G15.2,downstream_gene_variant,,ENST00000518591,;	197	244	246	SUCCESS
EIF3E	3646	.	GRCh37	8	109226891	109226891	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	172	329	0	ENST00000220849.5:c.1006G>A	p.Ala336Thr	p.A336T	ENST00000220849	NM_001568.2	336	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6308.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGCATTTT	NONE	.	.	HAMAP:MF_03004,hmmpanther:PTHR10317,Pfam_domain:PF01399,SMART_domains:SM00088,PIRSF_domain:PIRSF016255,Superfamily_domains:SSF46785	.	.	ENSP00000220849	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000220849	Transcript	.	.	ENSG00000104408	3277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EIF3E_HUMAN	EIF3E	HGNC	E5RIT4_HUMAN,E5RGA2_HUMAN,B3KW56_HUMAN	.	UPI0000000C92	SNV	EIF3E,missense_variant,p.Ala243Thr,ENST00000519030,;EIF3E,missense_variant,p.Ala336Thr,ENST00000220849,;EIF3E,missense_variant,p.Ala209Thr,ENST00000519627,;EIF3E,intron_variant,,ENST00000522352,;EIF3E,non_coding_transcript_exon_variant,,ENST00000519517,;EIF3E,downstream_gene_variant,,ENST00000519413,;EIF3E,non_coding_transcript_exon_variant,,ENST00000521614,;EIF3E,downstream_gene_variant,,ENST00000522445,;	1069	329	332	SUCCESS
UTP23	84294	.	GRCh37	8	117778791	117778791	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	17	133	0	ENST00000309822.2:c.-52G>A		p.*18*	ENST00000309822	NM_032334.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6320.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGTGAGGCGTT	NONE	.	.	.	.	.	ENSP00000308332	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000309822	Transcript	.	.	ENSG00000147679	28224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UTP23_HUMAN	UTP23	HGNC	.	.	UPI000013EF3A	SNV	UTP23,5_prime_UTR_variant,,ENST00000517814,;UTP23,5_prime_UTR_variant,,ENST00000309822,;UTP23,5_prime_UTR_variant,,ENST00000357148,;EIF3H,intron_variant,,ENST00000520813,;EIF3H,upstream_gene_variant,,ENST00000276682,;UTP23,upstream_gene_variant,,ENST00000520733,;UTP23,upstream_gene_variant,,ENST00000517820,;UTP23,5_prime_UTR_variant,,ENST00000521703,;UTP23,5_prime_UTR_variant,,ENST00000521071,;UTP23,upstream_gene_variant,,ENST00000519443,;UTP23,upstream_gene_variant,,ENST00000521974,;UTP23,upstream_gene_variant,,ENST00000524128,;	50	133	154	SUCCESS
RMDN1	51115	.	GRCh37	8	87519286	87519286	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	160	207	0	ENST00000406452.3:c.185A>G	p.Tyr62Cys	p.Y62C	ENST00000406452	NM_016033.2	62	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34918.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATACGAC	NONE	.	.	hmmpanther:PTHR16056	.	.	ENSP00000385927	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000406452	Transcript	.	.	ENSG00000176623	24285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.15)	.	RMD1_HUMAN	RMDN1	HGNC	E5RGC8_HUMAN	.	UPI0000073168	SNV	RMDN1,missense_variant,p.Tyr62Cys,ENST00000519966,;RMDN1,missense_variant,p.Tyr18Cys,ENST00000523911,;RMDN1,missense_variant,p.Tyr18Cys,ENST00000521045,;RMDN1,missense_variant,p.Tyr62Cys,ENST00000406452,;RMDN1,missense_variant,p.Tyr62Cys,ENST00000430676,;RMDN1,missense_variant,p.Tyr8Cys,ENST00000519789,;CPNE3,intron_variant,,ENST00000198765,;RMDN1,non_coding_transcript_exon_variant,,ENST00000518772,;RMDN1,missense_variant,p.Tyr18Cys,ENST00000524172,;RMDN1,missense_variant,p.Tyr62Cys,ENST00000522804,;RMDN1,missense_variant,p.Tyr18Cys,ENST00000523370,;SLC2A3P4,downstream_gene_variant,,ENST00000521259,;	345	207	282	SUCCESS
OR2K2	26248	.	GRCh37	9	114089907	114089907	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747616616	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	137	162	0	ENST00000374428.1:c.894A>G	p.Ile298Met	p.I298M	ENST00000374428		298	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS6778.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTATTTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF198,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000305055	.	1/1	.	.	.	.	.	.	.	.	rs747616616	1/1	PASS	ENST00000302681	Transcript	.	.	ENSG00000171133	8264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.23)	.	OR2K2_HUMAN	OR2K2	HGNC	.	.	UPI000003FE16	SNV	OR2K2,missense_variant,p.Ile269Met,ENST00000302681,;OR2K2,missense_variant,p.Ile298Met,ENST00000374428,;	807	162	156	SUCCESS
CELP	1057	.	GRCh37	9	135960410	135960410	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	19	21	0	ENST00000411440.2:n.459C>T		p.*153*	ENST00000411440				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTAGCCCAGCA	NONE	.	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000411440	Transcript	.	.	ENSG00000170827	1849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CELP	HGNC	.	.	.	SNV	CELP,non_coding_transcript_exon_variant,,ENST00000411440,;CELP,non_coding_transcript_exon_variant,,ENST00000421286,;	459	21	23	SUCCESS
KIAA0020	0	.	GRCh37	9	2812219	2812219	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	47	97	0	ENST00000397885.2:c.1412+1G>A		p.X471_splice	ENST00000397885	NM_014878.4	471		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6448.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTACCTGTG	NONE	.	.	.	.	.	ENSP00000380982	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397885	Transcript	.	.	ENSG00000080608	29676	.	.	HIGH	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0020_HUMAN	KIAA0020	HGNC	S4R3K8_HUMAN	.	UPI000013D67E	SNV	KIAA0020,splice_donor_variant,,ENST00000397885,;KIAA0020,upstream_gene_variant,,ENST00000382032,;KIAA0020,upstream_gene_variant,,ENST00000490444,;	.	97	56	SUCCESS
SMARCA1	6594	.	GRCh37	X	128623009	128623009	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	36	54	0	ENST00000371122.4:c.2002A>G	p.Met668Val	p.M668V	ENST00000371122	NM_003069.3	668	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS14612.1	2002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCATTTGTA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF602,Superfamily_domains:SSF52540	.	.	ENSP00000360163	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000371122	Transcript	.	.	ENSG00000102038	11097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	deleterious(0)	.	SMCA1_HUMAN	SMARCA1	HGNC	F6TQG2_HUMAN	.	UPI0000161FA6	SNV	SMARCA1,missense_variant,p.Met668Val,ENST00000371122,;SMARCA1,missense_variant,p.Met656Val,ENST00000371121,;SMARCA1,missense_variant,p.Met656Val,ENST00000371123,;	2132	54	42	SUCCESS
MTM1	4534	.	GRCh37	X	149814284	149814284	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	103	158	0	ENST00000370396.2:c.807A>T	p.Lys269Asn	p.K269N	ENST00000370396	NM_000252.2	269	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS14694.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAAACAAAT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF62,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000359423	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000370396	Transcript	.	.	ENSG00000171100	7448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious(0.01)	.	MTM1_HUMAN	MTM1	HGNC	B7Z499_HUMAN	.	UPI000012F7F5	SNV	MTM1,missense_variant,p.Lys174Asn,ENST00000542741,;MTM1,missense_variant,p.Lys154Asn,ENST00000543350,;MTM1,missense_variant,p.Lys269Asn,ENST00000370396,;MTM1,missense_variant,p.Lys232Asn,ENST00000413012,;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;MTM1,non_coding_transcript_exon_variant,,ENST00000490530,;	861	158	108	SUCCESS
RP2	6102	.	GRCh37	X	46713108	46713108	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	70	0	ENST00000218340.3:c.300G>T	p.Val100=	p.V100=	ENST00000218340	NM_006915.2	100	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14270.1	300	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTGTTTTT	NONE	.	.	PROSITE_profiles:PS51329,hmmpanther:PTHR15440:SF0,hmmpanther:PTHR15440,Gene3D:2.160.20.70,Pfam_domain:PF07986,SMART_domains:SM00673,PIRSF_domain:PIRSF037947,Superfamily_domains:SSF69340	.	.	ENSP00000218340	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000218340	Transcript	.	.	ENSG00000102218	10274	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XRP2_HUMAN	RP2	HGNC	.	.	UPI000000DA35	SNV	RP2,synonymous_variant,p.%3D,ENST00000218340,;	461	70	39	SUCCESS
LAS1L	81887	.	GRCh37	X	64738079	64738079	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	32	55	0	ENST00000374811.3:c.1715A>C	p.Lys572Thr	p.K572T	ENST00000374811	NM_031206.4	572	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS14381.1	1715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTTTCTCC	NONE	.	.	hmmpanther:PTHR15002,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000363944	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000374811	Transcript	.	.	ENSG00000001497	25726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.13)	.	LAS1L_HUMAN	LAS1L	HGNC	B3KNR6_HUMAN	.	UPI0000073CB7	SNV	LAS1L,missense_variant,p.Lys513Thr,ENST00000374804,;LAS1L,missense_variant,p.Lys572Thr,ENST00000374811,;LAS1L,missense_variant,p.Lys555Thr,ENST00000374807,;LAS1L,3_prime_UTR_variant,,ENST00000312391,;LAS1L,downstream_gene_variant,,ENST00000469091,;LAS1L,3_prime_UTR_variant,,ENST00000484069,;	1756	55	36	SUCCESS
SORCS3	22986	.	GRCh37	10	106865229	106865229	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	68	0	ENST00000369701.3:c.1168G>T	p.Asp390Tyr	p.D390Y	ENST00000369701	NM_014978.1	390	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS7558.1	1168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTGACATC	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,SMART_domains:SM00602	.	.	ENSP00000358715	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Asp390Tyr,ENST00000369701,;	1395	68	53	SUCCESS
HABP2	3026	.	GRCh37	10	115337800	115337800	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1425448008	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	48	0	ENST00000351270.3:c.464G>A	p.Arg155Lys	p.R155K	ENST00000351270	NM_004132.3	155	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS7577.1	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGGCCAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24272:SF5,hmmpanther:PTHR24272,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000277903	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000351270	Transcript	.	.	ENSG00000148702	4798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.24)	.	HABP2_HUMAN	HABP2	HGNC	.	.	UPI0000049411	SNV	HABP2,missense_variant,p.Arg155Lys,ENST00000351270,;HABP2,missense_variant,p.Arg155Lys,ENST00000541666,;HABP2,missense_variant,p.Gly144Ser,ENST00000537906,;HABP2,missense_variant,p.Arg129Lys,ENST00000542051,;	560	48	49	SUCCESS
HABP2	3026	.	GRCh37	10	115337801	115337801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	49	0	ENST00000351270.3:c.465G>T	p.Arg155Ser	p.R155S	ENST00000351270	NM_004132.3	155	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7577.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGCCAAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24272:SF5,hmmpanther:PTHR24272,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000277903	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000351270	Transcript	.	.	ENSG00000148702	4798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.22)	.	HABP2_HUMAN	HABP2	HGNC	.	.	UPI0000049411	SNV	HABP2,missense_variant,p.Arg155Ser,ENST00000351270,;HABP2,missense_variant,p.Arg155Ser,ENST00000541666,;HABP2,missense_variant,p.Gly144Val,ENST00000537906,;HABP2,missense_variant,p.Arg129Ser,ENST00000542051,;	561	49	49	SUCCESS
EBF3	253738	.	GRCh37	10	131671777	131671777	+	synonymous_variant	Silent	SNP	G	G	A	rs368078346	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	54	0	ENST00000355311.5:c.720C>T	p.His240=	p.H240=	ENST00000355311		240	caC/caT	0	A:0	.	.	.	.	A	H	protein_coding	YES	CCDS31314.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGTGTTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10747	.	A:0.0001	ENSP00000357637	.	8/16	.	.	.	.	.	.	.	.	rs368078346,COSM1474473,COSM1474474	8/16	PASS	ENST00000368648	Transcript	.	.	ENSG00000108001	19087	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	COE3_HUMAN	EBF3	HGNC	Q658Y5_HUMAN	.	UPI000002A6FB	SNV	EBF3,synonymous_variant,p.%3D,ENST00000355311,;EBF3,synonymous_variant,p.%3D,ENST00000368648,;	793	54	26	SUCCESS
WAPAL	0	.	GRCh37	10	88197724	88197724	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749610016	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	251	112	337	0	ENST00000298767.5:c.3460A>G	p.Ile1154Val	p.I1154V	ENST00000298767	NM_015045.2	1154	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7375.1	3460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTATTGAAA	NONE	byFrequency	.	PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100	.	.	ENSP00000298767	.	18/19	.	.	.	.	.	.	.	.	rs749610016	18/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	tolerated(0.15)	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,missense_variant,p.Ile1154Val,ENST00000298767,;WAPAL,missense_variant,p.Ile366Val,ENST00000372075,;WAPAL,missense_variant,p.Ile366Val,ENST00000263070,;WAPAL,non_coding_transcript_exon_variant,,ENST00000484070,;	3933	337	363	SUCCESS
DCUN1D5	84259	.	GRCh37	11	102937078	102937078	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1565285586	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	50	166	0	ENST00000260247.5:c.475A>G	p.Ile159Val	p.I159V	ENST00000260247	NM_032299.3	159	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8325.1	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATATCAA	NONE	.	.	PROSITE_profiles:PS51229,hmmpanther:PTHR12281:SF6,hmmpanther:PTHR12281,Pfam_domain:PF03556	.	.	ENSP00000260247	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000260247	Transcript	.	.	ENSG00000137692	28409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.21)	.	DCNL5_HUMAN	DCUN1D5	HGNC	B4DP84_HUMAN	.	UPI000006DE72	SNV	DCUN1D5,missense_variant,p.Ile159Val,ENST00000260247,;DCUN1D5,missense_variant,p.Ile74Val,ENST00000531543,;DCUN1D5,missense_variant,p.Ile131Val,ENST00000527260,;DCUN1D5,3_prime_UTR_variant,,ENST00000529294,;DCUN1D5,3_prime_UTR_variant,,ENST00000527576,;DCUN1D5,3_prime_UTR_variant,,ENST00000531571,;DCUN1D5,3_prime_UTR_variant,,ENST00000527779,;DCUN1D5,3_prime_UTR_variant,,ENST00000529281,;DCUN1D5,downstream_gene_variant,,ENST00000525420,;DCUN1D5,downstream_gene_variant,,ENST00000583974,;	818	166	154	SUCCESS
MUC2	4583	.	GRCh37	11	1087896	1087896	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	50	0	ENST00000441003.2:c.3371A>G	p.Tyr1124Cys	p.Y1124C	ENST00000441003	NM_002457.2	1124	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	3371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTACAACC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	25/49	.	.	.	.	.	.	.	.	.	25/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Tyr1124Cys,ENST00000441003,;MUC2,missense_variant,p.Tyr1124Cys,ENST00000359061,;MUC2,upstream_gene_variant,,ENST00000361558,;	3398	50	49	SUCCESS
NFRKB	4798	.	GRCh37	11	129745336	129745336	+	synonymous_variant	Silent	SNP	C	C	T	rs767896548	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	55	0	ENST00000446488.3:c.1770G>A	p.Leu590=	p.L590=	ENST00000446488	NM_001143835.1	590	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8483.1	1845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGCAGTCG	NONE	byFrequency	.	hmmpanther:PTHR13052	.	.	ENSP00000436926	.	16/25	.	.	.	.	.	.	.	.	rs767896548	16/25	PASS	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	SNV	NFRKB,synonymous_variant,p.%3D,ENST00000531755,;NFRKB,synonymous_variant,p.%3D,ENST00000524794,;NFRKB,synonymous_variant,p.%3D,ENST00000446488,;NFRKB,synonymous_variant,p.%3D,ENST00000524746,;NFRKB,synonymous_variant,p.%3D,ENST00000304521,;NFRKB,upstream_gene_variant,,ENST00000532147,;	1966	55	49	SUCCESS
TRIM51	84767	.	GRCh37	11	55653151	55653151	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774869203	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	5	116	0	ENST00000449290.2:c.247C>T	p.Arg83Trp	p.R83W	ENST00000449290	NM_032681.3	83	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	.	247	MUTECT|MUSE	.	GCCTCCGGCAA	NONE	.	.	hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103	.	.	ENSP00000395086	.	2/7	.	.	.	.	.	.	.	.	rs774869203,COSM928137	2/7	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.005)	.	tolerated(0.9)	0,1	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,missense_variant,p.Arg83Trp,ENST00000449290,;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	339	116	100	SUCCESS
TUT1	64852	.	GRCh37	11	62343405	62343405	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	86	0	ENST00000476907.1:c.1786C>T	p.Gln596Ter	p.Q596*	ENST00000476907		596	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS8021.2	1900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCAGAA	NONE	.	.	hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF11,Low_complexity_(Seg):seg	.	.	ENSP00000308000	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000308436	Transcript	.	.	ENSG00000149016	26184	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TUT1	HGNC	F5H0R1_HUMAN,C9JBX0_HUMAN	.	UPI000199421A	SNV	TUT1,stop_gained,p.Gln596Ter,ENST00000476907,;TUT1,stop_gained,p.Gln634Ter,ENST00000308436,;TUT1,downstream_gene_variant,,ENST00000278279,;EEF1G,upstream_gene_variant,,ENST00000329251,;EEF1G,upstream_gene_variant,,ENST00000378019,;EEF1G,upstream_gene_variant,,ENST00000524420,;EEF1G,upstream_gene_variant,,ENST00000532986,;TUT1,non_coding_transcript_exon_variant,,ENST00000469480,;MIR3654,intron_variant,,ENST00000534745,;MIR3654,intron_variant,,ENST00000496634,;MIR3654,intron_variant,,ENST00000526409,;TUT1,downstream_gene_variant,,ENST00000463241,;EEF1G,upstream_gene_variant,,ENST00000525340,;	1938	86	83	SUCCESS
NR1H4	9971	.	GRCh37	12	100934530	100934539	+	frameshift_variant	Frame_Shift_Del	DEL	GAGATTTTCA	GAGATTTTCA	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	GAGATTTTCA	GAGATTTTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	88	0	ENST00000551379.1:c.1042_1051del	p.Glu348IlefsTer26	p.E348Ifs*26	ENST00000551379		348	GAGATTTTCAat/at	0	.	.	.	.	.	-	EIFN/X	protein_coding	YES	CCDS55876.1	1042-1051	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGCTGAGATTTTCAATAAG	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF155,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000447149	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000551379	Transcript	.	.	ENSG00000012504	7967	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NR1H4_HUMAN	NR1H4	HGNC	B7Z423_HUMAN	.	UPI000006E701	deletion	NR1H4,frameshift_variant,p.Glu338IlefsTer26,ENST00000392986,;NR1H4,frameshift_variant,p.Glu334IlefsTer26,ENST00000548884,;NR1H4,frameshift_variant,p.Glu348IlefsTer26,ENST00000551379,;NR1H4,frameshift_variant,p.Glu287IlefsTer26,ENST00000549996,;NR1H4,frameshift_variant,p.Glu344IlefsTer26,ENST00000188403,;NR1H4,3_prime_UTR_variant,,ENST00000321046,;	1070-1079	88	64	SUCCESS
CLEC12B	387837	.	GRCh37	12	10163364	10163364	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	56	0	ENST00000338896.5:c.6T>C	p.Ser2=	p.S2=	ENST00000338896	NM_001129998.1	2	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS44830.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCTGAAGA	BUFFER|p.T6N|c.17C>A|3,BUFFER|p.T6N|c.17C>A|3	.	.	hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF151	.	.	ENSP00000344563	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000338896	Transcript	.	.	ENSG00000256660	31966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL12B_HUMAN	CLEC12B	HGNC	.	.	UPI000036687A	SNV	CLEC12B,synonymous_variant,p.%3D,ENST00000338896,;CLEC12B,synonymous_variant,p.%3D,ENST00000396502,;CLEC1B,intron_variant,,ENST00000428126,;RP11-133L14.5,downstream_gene_variant,,ENST00000544225,;CLEC12B,synonymous_variant,p.%3D,ENST00000539155,;CLEC12B,synonymous_variant,p.%3D,ENST00000544853,;CLEC12B,non_coding_transcript_exon_variant,,ENST00000535903,;	134	56	56	SUCCESS
CAMKK2	10645	.	GRCh37	12	121707370	121707370	+	synonymous_variant	Silent	SNP	G	G	A	rs377203622	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	94	0	ENST00000324774.5:c.534C>T	p.Val178=	p.V178=	ENST00000324774	NM_006549.3	178	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9216.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACGACACC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF178,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000312741	.	4/17	.	.	.	.	.	.	.	.	rs377203622	4/17	PASS	ENST00000324774	Transcript	.	.	ENSG00000110931	1470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KKCC2_HUMAN	CAMKK2	HGNC	Q8IZW1_HUMAN,F5H4I7_HUMAN,F5H360_HUMAN	.	UPI000013D208	SNV	CAMKK2,synonymous_variant,p.%3D,ENST00000412367,;CAMKK2,synonymous_variant,p.%3D,ENST00000324774,;CAMKK2,synonymous_variant,p.%3D,ENST00000347034,;CAMKK2,synonymous_variant,p.%3D,ENST00000404169,;CAMKK2,synonymous_variant,p.%3D,ENST00000538733,;CAMKK2,synonymous_variant,p.%3D,ENST00000392473,;CAMKK2,synonymous_variant,p.%3D,ENST00000402834,;CAMKK2,synonymous_variant,p.%3D,ENST00000337174,;CAMKK2,synonymous_variant,p.%3D,ENST00000392474,;CAMKK2,synonymous_variant,p.%3D,ENST00000446440,;CAMKK2,downstream_gene_variant,,ENST00000543477,;CAMKK2,downstream_gene_variant,,ENST00000544485,;CAMKK2,non_coding_transcript_exon_variant,,ENST00000539380,;CAMKK2,intron_variant,,ENST00000535524,;CAMKK2,non_coding_transcript_exon_variant,,ENST00000542540,;	1363	94	84	SUCCESS
CCDC62	84660	.	GRCh37	12	123265875	123265875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	66	0	ENST00000253079.6:c.394G>A	p.Glu132Lys	p.E132K	ENST00000253079	NM_201435.4	132	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9238.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGAGGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF187,hmmpanther:PTHR18937	.	.	ENSP00000253079	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000253079	Transcript	.	.	ENSG00000130783	30723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	deleterious(0.03)	.	CCD62_HUMAN	CCDC62	HGNC	.	.	UPI0000366924	SNV	CCDC62,missense_variant,p.Glu132Lys,ENST00000392441,;CCDC62,missense_variant,p.Glu132Lys,ENST00000253079,;CCDC62,intron_variant,,ENST00000537566,;CCDC62,intron_variant,,ENST00000539171,;CCDC62,intron_variant,,ENST00000392440,;CCDC62,missense_variant,p.Glu132Lys,ENST00000341952,;	738	66	90	SUCCESS
SBNO1	55206	.	GRCh37	12	123834937	123834937	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	91	0	ENST00000420886.2:c.52A>G	p.Ile18Val	p.I18V	ENST00000420886	NM_001167856.1	18	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53844.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAATTCCAC	NONE	.	.	.	.	.	ENSP00000387361	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000420886	Transcript	.	.	ENSG00000139697	22973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	deleterious_low_confidence(0.01)	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,missense_variant,p.Ile18Val,ENST00000602398,;SBNO1,missense_variant,p.Ile18Val,ENST00000602750,;SBNO1,missense_variant,p.Ile18Val,ENST00000420886,;SBNO1,missense_variant,p.Ile18Val,ENST00000267176,;Y_RNA,upstream_gene_variant,,ENST00000384460,;	52	91	92	SUCCESS
ZNF140	7699	.	GRCh37	12	133683150	133683150	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	31	0	ENST00000355557.2:c.1287T>C	p.Ala429=	p.A429=	ENST00000355557	NM_003440.2	429	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS9282.1	1287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCTAAACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF36,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347755	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355557	Transcript	.	.	ENSG00000196387	12925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN140_HUMAN	ZNF140	HGNC	Q05CP6_HUMAN,I3L0D9_HUMAN,F5H4I1_HUMAN,B4DKI0_HUMAN	.	UPI0000074687	SNV	ZNF140,synonymous_variant,p.%3D,ENST00000544426,;ZNF140,synonymous_variant,p.%3D,ENST00000355557,;ZNF140,3_prime_UTR_variant,,ENST00000440550,;ZNF140,downstream_gene_variant,,ENST00000429434,;ZNF140,downstream_gene_variant,,ENST00000356456,;ZNF140,downstream_gene_variant,,ENST00000412146,;ZNF140,downstream_gene_variant,,ENST00000319849,;ZNF140,3_prime_UTR_variant,,ENST00000536790,;ZNF140,downstream_gene_variant,,ENST00000392041,;	2570	31	32	SUCCESS
MAP3K12	7786	.	GRCh37	12	53879856	53879856	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	53	0	ENST00000267079.2:c.706G>C	p.Asp236His	p.D236H	ENST00000267079	NM_006301.3	236	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS55831.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCCCTGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF397,hmmpanther:PTHR23257,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF500741,SMART_domains:SM00220,PIRSF_domain:PIRSF038165,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000448689	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000547035	Transcript	.	.	ENSG00000139625	6851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	M3K12_HUMAN	MAP3K12	HGNC	H3BMF0_HUMAN	.	UPI00001407EE	SNV	MAP3K12,missense_variant,p.Asp269His,ENST00000547035,;MAP3K12,missense_variant,p.Asp236His,ENST00000267079,;MAP3K12,missense_variant,p.Asp269His,ENST00000547488,;PCBP2,downstream_gene_variant,,ENST00000437231,;PCBP2,downstream_gene_variant,,ENST00000455667,;PCBP2,downstream_gene_variant,,ENST00000447282,;MAP3K12,downstream_gene_variant,,ENST00000548565,;PCBP2,downstream_gene_variant,,ENST00000603815,;MAP3K12,downstream_gene_variant,,ENST00000547151,;MAP3K12,missense_variant,p.Asp236His,ENST00000552365,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547020,;MAP3K12,downstream_gene_variant,,ENST00000551895,;MAP3K12,upstream_gene_variant,,ENST00000548690,;MAP3K12,downstream_gene_variant,,ENST00000547803,;MAP3K12,upstream_gene_variant,,ENST00000551511,;	1010	53	47	SUCCESS
HOXC8	3224	.	GRCh37	12	54405052	54405052	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	63	0	ENST00000040584.4:c.616A>G	p.Lys206Glu	p.K206E	ENST00000040584	NM_022658.3	206	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS8870.1	616	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGAAAAAGGAG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF126,hmmpanther:PTHR24326,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000040584	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000040584	Transcript	.	.	ENSG00000037965	5129	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	HXC8_HUMAN	HOXC8	HGNC	.	.	UPI000012CF77	SNV	HOXC8,missense_variant,p.Lys206Glu,ENST00000040584,;HOXC6,intron_variant,,ENST00000509328,;HOXC6,intron_variant,,ENST00000504315,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,upstream_gene_variant,,ENST00000394331,;	853	63	46	SUCCESS
MARS	0	.	GRCh37	12	57908591	57908591	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	52	0	ENST00000262027.5:c.2056A>G	p.Thr686Ala	p.T686A	ENST00000262027	NM_004990.3	686	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8942.1	2056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCACCCTG	NONE	.	.	Superfamily_domains:SSF47323,TIGRFAM_domain:TIGR00398,Gene3D:1.10.730.10,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69,HAMAP:MF_00098	.	.	ENSP00000262027	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.18)	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,missense_variant,p.Thr42Ala,ENST00000552914,;MARS,missense_variant,p.Thr686Ala,ENST00000262027,;MARS,missense_variant,p.Thr452Ala,ENST00000315473,;MARS,intron_variant,,ENST00000548944,;DDIT3,downstream_gene_variant,,ENST00000346473,;DDIT3,downstream_gene_variant,,ENST00000552740,;DDIT3,downstream_gene_variant,,ENST00000551116,;MARS,upstream_gene_variant,,ENST00000547665,;DDIT3,downstream_gene_variant,,ENST00000547526,;DDIT3,downstream_gene_variant,,ENST00000547303,;RNU6-594P,downstream_gene_variant,,ENST00000517056,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,non_coding_transcript_exon_variant,,ENST00000549048,;MARS,non_coding_transcript_exon_variant,,ENST00000548202,;MARS,upstream_gene_variant,,ENST00000551172,;MARS,downstream_gene_variant,,ENST00000549603,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,upstream_gene_variant,,ENST00000552499,;MARS,upstream_gene_variant,,ENST00000551805,;	2190	52	42	SUCCESS
TRHDE	29953	.	GRCh37	12	72936117	72936117	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	61	0	ENST00000261180.4:c.1634T>C	p.Val545Ala	p.V545A	ENST00000261180	NM_013381.2	545	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS9004.1	1634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGTTTTCC	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:1.10.390.10,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	.	.	ENSP00000261180	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000261180	Transcript	.	.	ENSG00000072657	30748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	tolerated(0.09)	.	TRHDE_HUMAN	TRHDE	HGNC	.	.	UPI0000136D52	SNV	TRHDE,missense_variant,p.Val545Ala,ENST00000261180,;TRHDE,missense_variant,p.Val133Ala,ENST00000547300,;	1730	61	51	SUCCESS
NR2C1	7181	.	GRCh37	12	95456409	95456413	+	frameshift_variant	Frame_Shift_Del	DEL	GAGTA	GAGTA	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	GAGTA	GAGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	85	0	ENST00000333003.5:c.156_160del	p.Thr53LysfsTer34	p.T53Kfs*34	ENST00000333003	NM_003297.3	52	tcTACTCca/tcca	0	.	.	.	.	.	-	STP/SX	protein_coding	YES	CCDS9051.1	156-160	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTTGGAGTAGAGCC	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49	.	.	ENSP00000333275	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000333003	Transcript	.	.	ENSG00000120798	7971	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NR2C1_HUMAN	NR2C1	HGNC	H9NIM2_HUMAN	.	UPI00001AE7E6	deletion	NR2C1,frameshift_variant,p.Thr53LysfsTer34,ENST00000393101,;NR2C1,frameshift_variant,p.Thr53LysfsTer34,ENST00000333003,;NR2C1,frameshift_variant,p.Thr53LysfsTer34,ENST00000330677,;NR2C1,downstream_gene_variant,,ENST00000547469,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552417,;NR2C1,non_coding_transcript_exon_variant,,ENST00000551386,;NR2C1,non_coding_transcript_exon_variant,,ENST00000546367,;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,non_coding_transcript_exon_variant,,ENST00000548966,;NR2C1,upstream_gene_variant,,ENST00000548252,;NR2C1,upstream_gene_variant,,ENST00000547594,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;NR2C1,downstream_gene_variant,,ENST00000549482,;	487-491	85	66	SUCCESS
CUL4A	8451	.	GRCh37	13	113900301	113900301	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	89	0	ENST00000375440.4:c.1562T>C	p.Ile521Thr	p.I521T	ENST00000375440	NM_001008895.2	521	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS41908.1	1562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTATAGACC	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932:SF68,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1ldjA05,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000364589	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000375440	Transcript	.	.	ENSG00000139842	2554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.635)	.	deleterious(0.02)	.	CUL4A_HUMAN	CUL4A	HGNC	B4DKT2_HUMAN	.	UPI000021C449	SNV	CUL4A,missense_variant,p.Ile421Thr,ENST00000375441,;CUL4A,missense_variant,p.Ile521Thr,ENST00000375440,;CUL4A,missense_variant,p.Ile421Thr,ENST00000326335,;CUL4A,missense_variant,p.Ile421Thr,ENST00000451881,;CUL4A,non_coding_transcript_exon_variant,,ENST00000472083,;CUL4A,non_coding_transcript_exon_variant,,ENST00000470067,;	1646	89	92	SUCCESS
PCDH8	5100	.	GRCh37	13	53422358	53422358	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	44	0	ENST00000377942.3:c.214T>A	p.Ser72Thr	p.S72T	ENST00000377942	NM_002590.3	72	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS9438.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGAGCTGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF46,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000367177	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000377942	Transcript	.	.	ENSG00000136099	8660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.228)	.	deleterious(0.01)	.	PCDH8_HUMAN	PCDH8	HGNC	.	.	UPI0000072D47	SNV	PCDH8,missense_variant,p.Ser72Thr,ENST00000338862,;PCDH8,missense_variant,p.Ser72Thr,ENST00000377942,;	418	44	36	SUCCESS
RCOR1	23186	.	GRCh37	14	103188603	103188603	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	240	104	321	0	ENST00000570597.1:c.1260T>G	p.Phe420Leu	p.F420L	ENST00000570597		420	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS9974.2	1269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTTTTGT	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11,Pfam_domain:PF00249,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000262241	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000262241	Transcript	.	.	ENSG00000089902	17441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	.	RCOR1	HGNC	J3KN32_HUMAN	.	UPI0000D6A053	SNV	RCOR1,missense_variant,p.Phe423Leu,ENST00000262241,;RCOR1,missense_variant,p.Phe420Leu,ENST00000570597,;RCOR1,3_prime_UTR_variant,,ENST00000560472,;RCOR1,downstream_gene_variant,,ENST00000559597,;	1495	321	344	SUCCESS
GPX2	2877	.	GRCh37	14	65406390	65406390	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	53	169	0	ENST00000389614.5:c.389C>T	p.Pro130Leu	p.P130L	ENST00000389614	NM_002083.3	130	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41964.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGGGTCA	NONE	.	.	PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF23,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Superfamily_domains:SSF52833	.	.	ENSP00000374265	.	2/2	.	.	.	.	.	.	.	.	COSM271283	2/2	PASS	ENST00000389614	Transcript	.	.	ENSG00000176153	4554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.118)	.	deleterious(0.03)	1	GPX2_HUMAN	GPX2	HGNC	.	.	UPI00001B2F3B	SNV	GPX2,missense_variant,p.Pro130Leu,ENST00000389614,;GPX2,missense_variant,p.Pro74Leu,ENST00000557049,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1,intron_variant,,ENST00000551947,;CHURC1-FNTB,intron_variant,,ENST00000553743,;CHURC1,intron_variant,,ENST00000551093,;FNTB,intron_variant,,ENST00000542227,;CHURC1,downstream_gene_variant,,ENST00000359118,;CHURC1,downstream_gene_variant,,ENST00000607599,;GPX2,3_prime_UTR_variant,,ENST00000553522,;GPX2,3_prime_UTR_variant,,ENST00000557323,;CHURC1-FNTB,intron_variant,,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;	476	169	145	SUCCESS
RAB15	376267	.	GRCh37	14	65418368	65418368	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	91	0	ENST00000533601.2:c.199C>A	p.Gln67Lys	p.Q67K	ENST00000533601		67	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS9768.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGCCCTG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF367,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000267512	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000267512	Transcript	.	.	ENSG00000139998	20150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0)	.	RAB15_HUMAN	RAB15	HGNC	Q6MZX6_HUMAN,G5EMR7_HUMAN	.	UPI00001C1D4D	SNV	RAB15,missense_variant,p.Gln67Lys,ENST00000533601,;RAB15,missense_variant,p.Gln21Lys,ENST00000426039,;RAB15,missense_variant,p.Gln21Lys,ENST00000554593,;RAB15,missense_variant,p.Gln21Lys,ENST00000436278,;RAB15,missense_variant,p.Gln67Lys,ENST00000267512,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1-FNTB,intron_variant,,ENST00000553743,;FNTB,intron_variant,,ENST00000542227,;RAB15,missense_variant,p.Gln55Lys,ENST00000585059,;CHURC1-FNTB,intron_variant,,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;RAB15,upstream_gene_variant,,ENST00000555256,;	280	91	59	SUCCESS
MAX	4149	.	GRCh37	14	65544620	65544620	+	intron_variant	Intron	SNP	C	C	A	rs759033476	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	44	0	ENST00000358664.4:c.295+11G>T		p.*99*	ENST00000358664	NM_002382.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9771.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCGGGTG	NONE	.	.	.	.	.	ENSP00000351490	.	.	.	.	.	.	.	.	.	.	rs759033476	.	PASS	ENST00000358664	Transcript	.	.	ENSG00000125952	6913	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAX_HUMAN	MAX	HGNC	G3V570_HUMAN	.	UPI0000000C63	SNV	MAX,synonymous_variant,p.%3D,ENST00000556443,;MAX,synonymous_variant,p.%3D,ENST00000284165,;MAX,intron_variant,,ENST00000557277,;MAX,intron_variant,,ENST00000556892,;MAX,intron_variant,,ENST00000557746,;MAX,intron_variant,,ENST00000555932,;MAX,intron_variant,,ENST00000341653,;MAX,intron_variant,,ENST00000555667,;MAX,intron_variant,,ENST00000556979,;MAX,intron_variant,,ENST00000555419,;MAX,intron_variant,,ENST00000358402,;MAX,intron_variant,,ENST00000358664,;RP11-840I19.3,upstream_gene_variant,,ENST00000556127,;MAX,non_coding_transcript_exon_variant,,ENST00000553951,;MAX,intron_variant,,ENST00000553928,;MAX,intron_variant,,ENST00000394606,;	.	44	40	SUCCESS
PAPOLA	10914	.	GRCh37	14	96968802	96968802	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	30	0	ENST00000216277.8:c.-128G>T		p.*43*	ENST00000216277	NM_032632.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9946.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGGGAGA	NONE	.	.	.	.	.	ENSP00000216277	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000216277	Transcript	.	.	ENSG00000090060	14981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPOA_HUMAN	PAPOLA	HGNC	G3V2A0_HUMAN,B7ZA53_HUMAN,B4DZL2_HUMAN	.	UPI0000074269	SNV	PAPOLA,5_prime_UTR_variant,,ENST00000557320,;PAPOLA,5_prime_UTR_variant,,ENST00000216277,;PAPOLA,5_prime_UTR_variant,,ENST00000557471,;PAPOLA,upstream_gene_variant,,ENST00000392990,;PAPOLA,upstream_gene_variant,,ENST00000556619,;PAPOLA,upstream_gene_variant,,ENST00000555626,;RP11-872J21.3,upstream_gene_variant,,ENST00000569214,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000554130,;PAPOLA,intron_variant,,ENST00000554887,;PAPOLA,upstream_gene_variant,,ENST00000556248,;PAPOLA,missense_variant,p.Gly29Trp,ENST00000553357,;PAPOLA,5_prime_UTR_variant,,ENST00000553689,;	93	30	28	SUCCESS
SETD3	84193	.	GRCh37	14	99865113	99865113	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	102	0	ENST00000331768.5:c.1688C>G	p.Thr563Ser	p.T563S	ENST00000331768	NM_032233.2	563	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS9951.1	1688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGTCCCA	NONE	.	.	PROSITE_profiles:PS51565	.	.	ENSP00000327436	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000331768	Transcript	.	.	ENSG00000183576	20493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated_low_confidence(0.3)	.	SETD3_HUMAN	SETD3	HGNC	.	.	UPI000000CC6D	SNV	SETD3,missense_variant,p.Thr563Ser,ENST00000331768,;SETD3,3_prime_UTR_variant,,ENST00000446066,;SETD3,non_coding_transcript_exon_variant,,ENST00000489770,;	1848	102	67	SUCCESS
OCA2	4948	.	GRCh37	15	28326852	28326852	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372901106	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	6	132	0	ENST00000354638.3:c.169G>A	p.Gly57Arg	p.G57R	ENST00000354638	NM_000275.2	57	Ggg/Agg	0	T:0.0005	.	.	.	.	T	G/R	protein_coding	YES	CCDS10020.1	169	MUTECT|MUSE	.	CTGCCCGGCAG	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000346659	.	2/24	.	.	.	.	.	.	.	.	rs372901106,COSM313437	2/24	PASS	ENST00000354638	Transcript	1	.	ENSG00000104044	8101	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.166)	.	tolerated_low_confidence(0.29)	0,1	P_HUMAN	OCA2	HGNC	C9JDV3_HUMAN	.	UPI000013D158	SNV	OCA2,missense_variant,p.Gly57Arg,ENST00000354638,;OCA2,missense_variant,p.Gly57Arg,ENST00000445578,;OCA2,missense_variant,p.Gly57Arg,ENST00000353809,;OCA2,missense_variant,p.Gly57Arg,ENST00000431101,;OCA2,missense_variant,p.Gly57Arg,ENST00000382996,;	325	132	133	SUCCESS
SECISBP2L	9728	.	GRCh37	15	49284718	49284719	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	80	0	ENST00000559471.1:c.3028_3029del	p.Glu1010SerfsTer5	p.E1010Sfs*5	ENST00000559471	NM_001193489.1	1010	GAa/a	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS53942.1	3028-3029	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCACTTCTACAG	NONE	.	.	.	.	.	ENSP00000453854	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000559471	Transcript	.	.	ENSG00000138593	28997	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SBP2L_HUMAN	SECISBP2L	HGNC	J3KPI1_HUMAN	.	UPI00001C1F8B	deletion	SECISBP2L,frameshift_variant,p.Glu965SerfsTer5,ENST00000261847,;SECISBP2L,frameshift_variant,p.Glu1010SerfsTer5,ENST00000559471,;SECISBP2L,intron_variant,,ENST00000561428,;SECISBP2L,downstream_gene_variant,,ENST00000380927,;Y_RNA,downstream_gene_variant,,ENST00000384377,;	3292-3293	80	109	SUCCESS
CSPG4	1464	.	GRCh37	15	75980591	75980591	+	synonymous_variant	Silent	SNP	G	G	T	rs1362202520	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	56	0	ENST00000308508.5:c.2815C>A	p.Arg939=	p.R939=	ENST00000308508	NM_001897.4	939	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10284.1	2815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGCTCCA	NONE	.	.	hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	.	ENSP00000312506	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,synonymous_variant,p.%3D,ENST00000308508,;	2908	56	44	SUCCESS
SCAPER	49855	.	GRCh37	15	77154760	77154760	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	53	0	ENST00000324767.7:c.121G>T	p.Asp41Tyr	p.D41Y	ENST00000324767	NM_020843.2	41	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS53962.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCATCAT	NONE	.	.	hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2	.	.	ENSP00000454973	.	3/32	.	.	.	.	.	.	.	.	COSM284802	3/32	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.097)	.	deleterious(0)	1	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Asp41Tyr,ENST00000324767,;SCAPER,missense_variant,p.Asp41Tyr,ENST00000563919,;SCAPER,missense_variant,p.Asp41Tyr,ENST00000563290,;SCAPER,missense_variant,p.Asp41Tyr,ENST00000565372,;SCAPER,missense_variant,p.Asp41Tyr,ENST00000564590,;SCAPER,missense_variant,p.Asp41Tyr,ENST00000565970,;SCAPER,intron_variant,,ENST00000564177,;SCAPER,intron_variant,,ENST00000568382,;SCAPER,upstream_gene_variant,,ENST00000538941,;SCAPER,missense_variant,p.Asp41Tyr,ENST00000565507,;SCAPER,intron_variant,,ENST00000303521,;	217	53	52	SUCCESS
ANPEP	290	.	GRCh37	15	90344728	90344728	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	126	0	ENST00000300060.6:c.1680C>G	p.Thr560=	p.T560=	ENST00000300060	NM_001150.2	560	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10356.1	1680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGGGTCCC	NONE	.	.	hmmpanther:PTHR11533:SF149,hmmpanther:PTHR11533	.	.	ENSP00000300060	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000300060	Transcript	.	.	ENSG00000166825	500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMPN_HUMAN	ANPEP	HGNC	Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN	.	UPI00001AECCF	SNV	ANPEP,synonymous_variant,p.%3D,ENST00000300060,;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,non_coding_transcript_exon_variant,,ENST00000558177,;ANPEP,3_prime_UTR_variant,,ENST00000560030,;ANPEP,upstream_gene_variant,,ENST00000559761,;ANPEP,downstream_gene_variant,,ENST00000560028,;ANPEP,downstream_gene_variant,,ENST00000559887,;	1994	126	121	SUCCESS
SYNM	23336	.	GRCh37	15	99672268	99672269	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	55	0	ENST00000336292.6:c.3705dup	p.Gln1236SerfsTer12	p.Q1236Sfs*12	ENST00000336292	NM_145728.2	1234	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	.	3700-3701	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATTATTTTT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	.	.	ENSP00000336775	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000336292	Transcript	.	.	ENSG00000182253	24466	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNEM_HUMAN	SYNM	HGNC	.	.	UPI00001B03B3	insertion	SYNM,frameshift_variant,p.Gln1236SerfsTer12,ENST00000336292,;SYNM,intron_variant,,ENST00000328642,;SYNM,intron_variant,,ENST00000560674,;TTC23,downstream_gene_variant,,ENST00000262074,;TTC23,downstream_gene_variant,,ENST00000394132,;TTC23,downstream_gene_variant,,ENST00000558613,;TTC23,downstream_gene_variant,,ENST00000394136,;RP11-6O2.4,upstream_gene_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,intron_variant,,ENST00000561306,;SYNM,intron_variant,,ENST00000558420,;TTC23,downstream_gene_variant,,ENST00000494567,;TTC23,downstream_gene_variant,,ENST00000459771,;	3820-3821	55	35	SUCCESS
MPG	4350	.	GRCh37	16	129606	129606	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	101	0	ENST00000219431.4:c.222C>G	p.Ile74Met	p.I74M	ENST00000219431	NM_002434.3	74	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS32346.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCTATTT	NONE	.	.	hmmpanther:PTHR10429,hmmpanther:PTHR10429:SF0	.	.	ENSP00000219431	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000219431	Transcript	.	.	ENSG00000103152	7211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	deleterious(0.05)	.	3MG_HUMAN	MPG	HGNC	Q1W6H1_HUMAN,A2IDA3_HUMAN	.	UPI000002A2C0	SNV	MPG,missense_variant,p.Ile57Met,ENST00000436333,;MPG,missense_variant,p.Ile69Met,ENST00000356432,;MPG,missense_variant,p.Ile57Met,ENST00000397817,;MPG,missense_variant,p.Ile74Met,ENST00000219431,;RHBDF1,upstream_gene_variant,,ENST00000454039,;RHBDF1,upstream_gene_variant,,ENST00000450643,;MPG,non_coding_transcript_exon_variant,,ENST00000475280,;RHBDF1,upstream_gene_variant,,ENST00000472390,;NPRL3,downstream_gene_variant,,ENST00000463178,;	453	101	91	SUCCESS
CLN3	1201	.	GRCh37	16	28495439	28495439	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	46	0	ENST00000360019.2:c.678C>T		p.X226_splice	ENST00000360019	NM_001042432.1	226	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10632.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGCTAGG	NONE	.	.	Superfamily_domains:SSF103473,PIRSF_domain:PIRSF015974,Pfam_domain:PF02487,hmmpanther:PTHR10981,hmmpanther:PTHR10981:SF0,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000454229	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000569430	Transcript	.	.	ENSG00000188603	2074	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLN3_HUMAN	CLN3	HGNC	H3BPL0_HUMAN,B4DXV0_HUMAN,B4DFF3_HUMAN	.	UPI00000000ED	SNV	CLN3,synonymous_variant,p.%3D,ENST00000395653,;CLN3,synonymous_variant,p.%3D,ENST00000354630,;CLN3,synonymous_variant,p.%3D,ENST00000357857,;CLN3,synonymous_variant,p.%3D,ENST00000565688,;CLN3,synonymous_variant,p.%3D,ENST00000567963,;CLN3,synonymous_variant,p.%3D,ENST00000569430,;CLN3,synonymous_variant,p.%3D,ENST00000565316,;CLN3,synonymous_variant,p.%3D,ENST00000359984,;CLN3,synonymous_variant,p.%3D,ENST00000360019,;CLN3,synonymous_variant,p.%3D,ENST00000333496,;CLN3,synonymous_variant,p.%3D,ENST00000355477,;CLN3,synonymous_variant,p.%3D,ENST00000535392,;CLN3,synonymous_variant,p.%3D,ENST00000568558,;CLN3,synonymous_variant,p.%3D,ENST00000357806,;CLN3,synonymous_variant,p.%3D,ENST00000565778,;CLN3,intron_variant,,ENST00000357076,;CLN3,downstream_gene_variant,,ENST00000561505,;CLN3,downstream_gene_variant,,ENST00000568443,;CLN3,splice_region_variant,,ENST00000568472,;CLN3,splice_region_variant,,ENST00000565047,;CLN3,missense_variant,p.Ala154Val,ENST00000565140,;CLN3,missense_variant,p.Ala105Val,ENST00000568422,;CLN3,missense_variant,p.Ala154Val,ENST00000567495,;CLN3,synonymous_variant,p.%3D,ENST00000568224,;CLN3,synonymous_variant,p.%3D,ENST00000566057,;CLN3,synonymous_variant,p.%3D,ENST00000568497,;CLN3,splice_region_variant,,ENST00000563874,;CLN3,splice_region_variant,,ENST00000566083,;CLN3,splice_region_variant,,ENST00000564574,;CLN3,splice_region_variant,,ENST00000561689,;CLN3,splice_region_variant,,ENST00000566824,;CLN3,splice_region_variant,,ENST00000568452,;CLN3,splice_region_variant,,ENST00000568076,;CLN3,intron_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000565354,;CLN3,upstream_gene_variant,,ENST00000564091,;	1498	46	43	SUCCESS
SLC7A6OS	84138	.	GRCh37	16	68335257	68335257	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	45	0	ENST00000263997.6:c.851A>T	p.Gln284Leu	p.Q284L	ENST00000263997	NM_032178.2	284	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10865.1	851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCTGTCTG	NONE	.	.	hmmpanther:PTHR31196:SF2,hmmpanther:PTHR31196	.	.	ENSP00000263997	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000263997	Transcript	.	.	ENSG00000103061	25807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.15)	.	S7A6O_HUMAN	SLC7A6OS	HGNC	.	.	UPI000013D49E	SNV	SLC7A6OS,missense_variant,p.Gln284Leu,ENST00000263997,;SLC7A6,3_prime_UTR_variant,,ENST00000219343,;SLC7A6,3_prime_UTR_variant,,ENST00000566454,;SLC7A6OS,downstream_gene_variant,,ENST00000561590,;SLC7A6,3_prime_UTR_variant,,ENST00000379152,;SLC7A6OS,non_coding_transcript_exon_variant,,ENST00000561933,;SLC7A6OS,intron_variant,,ENST00000568315,;SLC7A6,downstream_gene_variant,,ENST00000567325,;SLC7A6OS,downstream_gene_variant,,ENST00000568538,;	870	45	39	SUCCESS
MVD	4597	.	GRCh37	16	88721205	88721205	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	58	0	ENST00000301012.3:c.908C>T	p.Thr303Ile	p.T303I	ENST00000301012	NM_002461.1	303	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10968.1	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGTGTAC	NONE	.	.	hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2,TIGRFAM_domain:TIGR01240,Gene3D:3.30.70.890,PIRSF_domain:PIRSF015950,Superfamily_domains:SSF55060	.	.	ENSP00000301012	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000301012	Transcript	.	.	ENSG00000167508	7529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	MVD1_HUMAN	MVD	HGNC	.	.	UPI000012A0C6	SNV	MVD,missense_variant,p.Thr303Ile,ENST00000301012,;CYBA,upstream_gene_variant,,ENST00000567174,;CYBA,upstream_gene_variant,,ENST00000261623,;MVD,downstream_gene_variant,,ENST00000569177,;CYBA,upstream_gene_variant,,ENST00000568278,;CYBA,upstream_gene_variant,,ENST00000566229,;CYBA,upstream_gene_variant,,ENST00000569359,;MVD,downstream_gene_variant,,ENST00000565720,;MVD,downstream_gene_variant,,ENST00000568709,;MVD,downstream_gene_variant,,ENST00000563463,;CYBA,upstream_gene_variant,,ENST00000561972,;MVD,non_coding_transcript_exon_variant,,ENST00000561895,;MVD,non_coding_transcript_exon_variant,,ENST00000565149,;CYBA,upstream_gene_variant,,ENST00000563526,;MVD,downstream_gene_variant,,ENST00000565610,;MVD,downstream_gene_variant,,ENST00000563785,;MVD,downstream_gene_variant,,ENST00000563170,;MVD,downstream_gene_variant,,ENST00000568133,;MVD,downstream_gene_variant,,ENST00000562651,;MVD,downstream_gene_variant,,ENST00000566636,;CYBA,upstream_gene_variant,,ENST00000562209,;MVD,upstream_gene_variant,,ENST00000562981,;MVD,downstream_gene_variant,,ENST00000567064,;CYBA,upstream_gene_variant,,ENST00000566534,;	938	58	69	SUCCESS
SHISA6	388336	.	GRCh37	17	11461430	11461430	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1011419092	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	61	0	ENST00000409168.3:c.1312C>T	p.Arg438Cys	p.R438C	ENST00000409168	NM_001173461.1	438	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS45615.1	1465	MUTECT|MUSE	.	TGGACCGCTAC	NONE	.	.	hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0	.	.	ENSP00000390084	.	6/6	.	.	.	.	.	.	.	.	COSM975444,COSM975443	6/6	PASS	ENST00000441885	Transcript	.	.	ENSG00000188803	34491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	1,1	SHSA6_HUMAN	SHISA6	HGNC	.	.	UPI000183CBD8	SNV	SHISA6,missense_variant,p.Arg470Cys,ENST00000432116,;SHISA6,missense_variant,p.Arg438Cys,ENST00000409168,;SHISA6,missense_variant,p.Arg489Cys,ENST00000441885,;	1625	61	30	SUCCESS
MRPL45	84311	.	GRCh37	17	36476595	36476595	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	51	0	ENST00000312513.5:c.604A>T	p.Met202Leu	p.M202L	ENST00000312513	NM_001278279.1	202	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS11326.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTATGATG	NONE	.	.	Pfam_domain:PF04280,SMART_domains:SM00978,Superfamily_domains:SSF54427	.	.	ENSP00000308901	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000312513	Transcript	.	.	ENSG00000174100	16651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.69)	.	RM45_HUMAN	MRPL45	HGNC	.	.	UPI000013FDDF	SNV	MRPL45,missense_variant,p.Met202Leu,ENST00000312513,;GPR179,downstream_gene_variant,,ENST00000342292,;MRPL45,downstream_gene_variant,,ENST00000582535,;GPR179,downstream_gene_variant,,ENST00000584976,;MRPL45,3_prime_UTR_variant,,ENST00000579911,;MRPL45,3_prime_UTR_variant,,ENST00000580762,;	765	51	66	SUCCESS
ACBD4	79777	.	GRCh37	17	43213538	43213538	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	51	0	ENST00000376955.4:c.27G>T	p.Glu9Asp	p.E9D	ENST00000376955	NM_001135707.1	9	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45710.1	27	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGCCCGA	NONE	.	.	hmmpanther:PTHR23310:SF53,hmmpanther:PTHR23310	.	.	ENSP00000405969	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000431281	Transcript	.	.	ENSG00000181513	23337	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.835)	.	deleterious(0.02)	.	ACBD4_HUMAN	ACBD4	HGNC	.	.	UPI000007470F	SNV	ACBD4,missense_variant,p.Glu9Asp,ENST00000376955,;ACBD4,missense_variant,p.Glu9Asp,ENST00000592162,;ACBD4,missense_variant,p.Glu9Asp,ENST00000431281,;ACBD4,missense_variant,p.Glu9Asp,ENST00000398322,;ACBD4,missense_variant,p.Glu9Asp,ENST00000591859,;ACBD4,missense_variant,p.Glu9Asp,ENST00000321854,;ACBD4,missense_variant,p.Glu9Asp,ENST00000586346,;PLCD3,upstream_gene_variant,,ENST00000322765,;PLCD3,upstream_gene_variant,,ENST00000538093,;PLCD3,upstream_gene_variant,,ENST00000590644,;ACBD4,downstream_gene_variant,,ENST00000587976,;PLCD3,upstream_gene_variant,,ENST00000540511,;ACBD4,upstream_gene_variant,,ENST00000591136,;PLCD3,upstream_gene_variant,,ENST00000544446,;ACBD4,downstream_gene_variant,,ENST00000587111,;ACBD4,downstream_gene_variant,,ENST00000586279,;ACBD4,missense_variant,p.Glu9Asp,ENST00000589798,;ACBD4,non_coding_transcript_exon_variant,,ENST00000590289,;ACBD4,non_coding_transcript_exon_variant,,ENST00000589752,;ACBD4,non_coding_transcript_exon_variant,,ENST00000585553,;	496	51	77	SUCCESS
CACNA1G	8913	.	GRCh37	17	48667952	48667952	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	32	43	0	ENST00000359106.5:c.2422A>T	p.Asn808Tyr	p.N808Y	ENST00000359106	NM_018896.4	808	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS45730.1	2422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACAACATC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	10/38	.	.	.	.	.	.	.	.	.	10/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,missense_variant,p.Asn808Tyr,ENST00000502264,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000416767,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000358244,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000515165,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000514181,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000352832,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000360761,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000507336,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000354983,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000513689,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000507510,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000505165,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000514717,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000510366,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000429973,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000510115,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000442258,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000512389,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000514079,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000507896,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000515411,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000513964,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000359106,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000507609,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000503485,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000515765,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000511768,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000503436,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000503607,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000506406,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000504076,;CACNA1G,missense_variant,p.Asn808Tyr,ENST00000511765,;	2422	43	58	SUCCESS
INTS2	57508	.	GRCh37	17	59989028	59989028	+	synonymous_variant	Silent	SNP	A	A	G	rs780388854	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	141	211	0	ENST00000444766.3:c.831T>C	p.Leu277=	p.L277=	ENST00000444766	NM_020748.2	277	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS45750.1	831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCAAGGCC	NONE	.	.	Pfam_domain:PF14750	.	.	ENSP00000414237	.	7/25	.	.	.	.	.	.	.	.	rs780388854	7/25	PASS	ENST00000444766	Transcript	.	.	ENSG00000108506	29241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT2_HUMAN	INTS2	HGNC	J3KRH0_HUMAN,J3KMZ7_HUMAN	.	UPI0000E5A03A	SNV	INTS2,synonymous_variant,p.%3D,ENST00000444766,;INTS2,synonymous_variant,p.%3D,ENST00000251334,;	907	211	279	SUCCESS
SCN4A	6329	.	GRCh37	17	62034767	62034767	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764029151	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	67	0	ENST00000435607.1:c.2131G>A	p.Val711Met	p.V711M	ENST00000435607	NM_000334.4	711	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45761.1	2131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACACGATGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000396320	.	13/24	.	.	.	.	.	.	.	.	rs764029151,COSM1385245	13/24	PASS	ENST00000435607	Transcript	.	.	ENSG00000007314	10591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	SCN4A_HUMAN	SCN4A	HGNC	Q9H3L9_HUMAN	.	UPI0000201254	SNV	SCN4A,missense_variant,p.Val711Met,ENST00000435607,;SCN4A,missense_variant,p.Val711Met,ENST00000578147,;SCN4A,downstream_gene_variant,,ENST00000581514,;	2208	67	107	SUCCESS
DVL2	1856	.	GRCh37	17	7137429	7137429	+	synonymous_variant	Silent	SNP	C	C	A	rs987969510	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	74	0	ENST00000005340.5:c.153G>T	p.Ala51=	p.A51=	ENST00000005340	NM_004422.2	51	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11091.1	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCCGCGGG	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00021,Pfam_domain:PF00778,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,PROSITE_profiles:PS50841	.	.	ENSP00000005340	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000005340	Transcript	.	.	ENSG00000004975	3086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DVL2_HUMAN	DVL2	HGNC	B4E2D6_HUMAN	.	UPI0000000DE9	SNV	DVL2,synonymous_variant,p.%3D,ENST00000575458,;DVL2,synonymous_variant,p.%3D,ENST00000575756,;DVL2,synonymous_variant,p.%3D,ENST00000005340,;PHF23,downstream_gene_variant,,ENST00000454255,;PHF23,downstream_gene_variant,,ENST00000570899,;PHF23,downstream_gene_variant,,ENST00000572789,;PHF23,downstream_gene_variant,,ENST00000574323,;PHF23,downstream_gene_variant,,ENST00000574236,;PHF23,downstream_gene_variant,,ENST00000573826,;PHF23,downstream_gene_variant,,ENST00000320316,;DVL2,upstream_gene_variant,,ENST00000574143,;PHF23,downstream_gene_variant,,ENST00000571362,;PHF23,downstream_gene_variant,,ENST00000576955,;PHF23,downstream_gene_variant,,ENST00000574407,;DVL2,upstream_gene_variant,,ENST00000574642,;PHF23,downstream_gene_variant,,ENST00000570753,;PHF23,downstream_gene_variant,,ENST00000574899,;DVL2,non_coding_transcript_exon_variant,,ENST00000576949,;DVL2,non_coding_transcript_exon_variant,,ENST00000572285,;DVL2,upstream_gene_variant,,ENST00000573354,;DVL2,upstream_gene_variant,,ENST00000577154,;DVL2,upstream_gene_variant,,ENST00000576439,;DVL2,upstream_gene_variant,,ENST00000574591,;	436	74	35	SUCCESS
CHRNB1	1140	.	GRCh37	17	7348430	7348430	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	65	0	ENST00000306071.2:c.-17G>T		p.*6*	ENST00000306071	NM_000747.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11106.1	.	RADIA|MUSE	.	TCACTGAGCGA	NONE	.	.	.	.	.	ENSP00000304290	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000306071	Transcript	.	.	ENSG00000170175	1961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHB_HUMAN	CHRNB1	HGNC	I3L535_HUMAN,B7Z5H1_HUMAN,B7Z2M6_HUMAN	.	UPI0000125257	SNV	CHRNB1,5_prime_UTR_variant,,ENST00000306071,;CHRNB1,5_prime_UTR_variant,,ENST00000572857,;CHRNB1,upstream_gene_variant,,ENST00000570557,;FGF11,downstream_gene_variant,,ENST00000575235,;CHRNB1,upstream_gene_variant,,ENST00000536404,;FGF11,downstream_gene_variant,,ENST00000575082,;FGF11,downstream_gene_variant,,ENST00000293829,;FGF11,downstream_gene_variant,,ENST00000575398,;CHRNB1,upstream_gene_variant,,ENST00000576360,;FGF11,downstream_gene_variant,,ENST00000572907,;RP11-104H15.8,upstream_gene_variant,,ENST00000576615,;RP11-104H15.10,non_coding_transcript_exon_variant,,ENST00000575331,;RP11-104H15.7,downstream_gene_variant,,ENST00000575310,;CHRNB1,non_coding_transcript_exon_variant,,ENST00000574054,;FGF11,downstream_gene_variant,,ENST00000576328,;CHRNB1,upstream_gene_variant,,ENST00000573209,;	51	65	23	SUCCESS
RNF213	57674	.	GRCh37	17	78247203	78247203	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	58	0	ENST00000582970.1:c.261A>C	p.Glu87Asp	p.E87D	ENST00000582970	NM_001256071.1	87	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS58606.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAAGTGAG	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	3/68	.	.	.	.	.	.	.	.	.	3/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Glu87Asp,ENST00000582970,;RNF213,missense_variant,p.Glu87Asp,ENST00000319921,;RNF213,missense_variant,p.Glu87Asp,ENST00000456466,;RNF213,missense_variant,p.Glu87Asp,ENST00000508628,;	404	58	49	SUCCESS
RNF213	57674	.	GRCh37	17	78247205	78247205	+	splice_donor_variant	Splice_Site	SNP	T	T	A	rs74367834	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	56	0	ENST00000582970.1:c.261+2T>A		p.X87_splice	ENST00000582970	NM_001256071.1	87		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58606.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTGAGTG	NONE	byCluster	.	.	.	.	ENSP00000464087	.	.	.	.	.	.	.	.	.	.	rs74367834	.	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	HIGH	3/67	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,splice_donor_variant,,ENST00000582970,;RNF213,splice_donor_variant,,ENST00000319921,;RNF213,splice_donor_variant,,ENST00000456466,;RNF213,splice_donor_variant,,ENST00000508628,;	.	56	47	SUCCESS
MOCOS	55034	.	GRCh37	18	33795576	33795576	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	55	0	ENST00000261326.5:c.1433T>C	p.Val478Ala	p.V478A	ENST00000261326	NM_017947.2	478	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11919.1	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTCCAGG	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF00266,Gene3D:3.90.1150.10,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050	.	.	ENSP00000261326	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Val478Ala,ENST00000261326,;	1454	55	54	SUCCESS
MOCOS	55034	.	GRCh37	18	33840138	33840138	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	112	0	ENST00000261326.5:c.2409G>A		p.X803_splice	ENST00000261326	NM_017947.2	803	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS11919.1	2409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGTAAG	NONE	.	.	Superfamily_domains:SSF50800,Pfam_domain:PF03473,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050,PROSITE_profiles:PS51340	.	.	ENSP00000261326	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,synonymous_variant,p.%3D,ENST00000261326,;MOCOS,splice_region_variant,,ENST00000588132,;	2430	112	97	SUCCESS
PIGN	23556	.	GRCh37	18	59815546	59815546	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	309	133	488	0	ENST00000357637.5:c.575A>G	p.Asn192Ser	p.N192S	ENST00000357637	NM_176787.4	192	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45879.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGTTGTTT	NONE	.	.	hmmpanther:PTHR12250,Pfam_domain:PF01663,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000350263	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000357637	Transcript	.	.	ENSG00000197563	8967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	tolerated(0.07)	.	PIGN_HUMAN	PIGN	HGNC	K7ESH9_HUMAN,K7ERX5_HUMAN,K7EQG0_HUMAN,K7EPN0_HUMAN,K7ENC3_HUMAN,K7EMD7_HUMAN,K7EM45_HUMAN,K7ELE1_HUMAN,K7EL34_HUMAN,K7EK83_HUMAN	.	UPI0000070A47	SNV	PIGN,missense_variant,p.Asn192Ser,ENST00000400334,;PIGN,missense_variant,p.Asn115Ser,ENST00000591238,;PIGN,missense_variant,p.Asn9Ser,ENST00000589414,;PIGN,missense_variant,p.Asn192Ser,ENST00000585923,;PIGN,missense_variant,p.Asn115Ser,ENST00000588748,;PIGN,missense_variant,p.Asn192Ser,ENST00000357637,;PIGN,downstream_gene_variant,,ENST00000589720,;PIGN,intron_variant,,ENST00000592803,;	991	488	442	SUCCESS
KANK2	25959	.	GRCh37	19	11286587	11286587	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	54	0	ENST00000586659.1:c.1839G>A	p.Glu613=	p.E613=	ENST00000586659		613	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS54219.1	1863	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGCTCTGT	NONE	.	.	hmmpanther:PTHR24168:SF0,hmmpanther:PTHR24168	.	.	ENSP00000395650	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000432929	Transcript	1	.	ENSG00000197256	29300	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KANK2_HUMAN	KANK2	HGNC	Q9NXX5_HUMAN,K7ES05_HUMAN,K7ERU2_HUMAN,K7EL48_HUMAN	.	UPI00003B5C5D	SNV	KANK2,synonymous_variant,p.%3D,ENST00000589894,;KANK2,synonymous_variant,p.%3D,ENST00000589359,;KANK2,synonymous_variant,p.%3D,ENST00000355150,;KANK2,synonymous_variant,p.%3D,ENST00000432929,;KANK2,synonymous_variant,p.%3D,ENST00000586659,;KANK2,synonymous_variant,p.%3D,ENST00000588787,;	2224	54	72	SUCCESS
PRKCSH	5589	.	GRCh37	19	11560181	11560181	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	59	0	ENST00000589838.1:c.1541A>C	p.Glu514Ala	p.E514A	ENST00000589838		514	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS32911.1	1541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGAGCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF1	.	.	ENSP00000252455	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000252455	Transcript	1	.	ENSG00000130175	9411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.559)	.	tolerated(0.07)	.	GLU2B_HUMAN	PRKCSH	HGNC	K7EPW7_HUMAN,K7EKX1_HUMAN,K7EJ70_HUMAN,K7EIP3_HUMAN	.	UPI000007007F	SNV	PRKCSH,missense_variant,p.Glu511Ala,ENST00000587327,;PRKCSH,missense_variant,p.Glu514Ala,ENST00000589838,;PRKCSH,missense_variant,p.Glu511Ala,ENST00000412601,;PRKCSH,missense_variant,p.Glu511Ala,ENST00000591462,;PRKCSH,missense_variant,p.Glu521Ala,ENST00000592741,;PRKCSH,missense_variant,p.Glu514Ala,ENST00000252455,;ELAVL3,downstream_gene_variant,,ENST00000359227,;PRKCSH,upstream_gene_variant,,ENST00000591510,;PRKCSH,missense_variant,p.Glu186Ala,ENST00000586486,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000587290,;PRKCSH,downstream_gene_variant,,ENST00000585325,;PRKCSH,downstream_gene_variant,,ENST00000592445,;PRKCSH,downstream_gene_variant,,ENST00000592435,;PRKCSH,downstream_gene_variant,,ENST00000590098,;PRKCSH,downstream_gene_variant,,ENST00000589990,;PRKCSH,downstream_gene_variant,,ENST00000585540,;	1877	59	73	SUCCESS
RAB8A	4218	.	GRCh37	19	16236349	16236350	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	72	0	ENST00000300935.3:c.318dup	p.Glu107Ter	p.E107*	ENST00000300935	NM_005370.4	106	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS12339.1	316-317	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAACATTGAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00177,SMART_domains:SM00175,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,hmmpanther:PTHR24073:SF24,hmmpanther:PTHR24073,PROSITE_profiles:PS51419	.	.	ENSP00000300935	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000300935	Transcript	.	.	ENSG00000167461	7007	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB8A_HUMAN	RAB8A	HGNC	.	.	UPI0000001261	insertion	RAB8A,frameshift_variant,p.Glu107Ter,ENST00000586682,;RAB8A,frameshift_variant,p.Glu107Ter,ENST00000300935,;CTD-2231E14.8,non_coding_transcript_exon_variant,,ENST00000597983,;RAB8A,non_coding_transcript_exon_variant,,ENST00000587156,;RAB8A,non_coding_transcript_exon_variant,,ENST00000589697,;RAB8A,downstream_gene_variant,,ENST00000590899,;RAB8A,upstream_gene_variant,,ENST00000592971,;	589-590	72	71	SUCCESS
GMIP	51291	.	GRCh37	19	19753423	19753423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	65	0	ENST00000203556.4:c.25C>T	p.Pro9Ser	p.P9S	ENST00000203556	NM_016573.2	9	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12408.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGGAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16	.	.	ENSP00000203556	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.22)	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,missense_variant,p.Pro9Ser,ENST00000587238,;GMIP,missense_variant,p.Pro9Ser,ENST00000203556,;GMIP,missense_variant,p.Pro9Ser,ENST00000445806,;GMIP,5_prime_UTR_variant,,ENST00000587205,;ATP13A1,downstream_gene_variant,,ENST00000291503,;GMIP,upstream_gene_variant,,ENST00000593186,;ATP13A1,downstream_gene_variant,,ENST00000357324,;GMIP,missense_variant,p.Pro9Ser,ENST00000588171,;GMIP,missense_variant,p.Pro9Ser,ENST00000591047,;ATP13A1,downstream_gene_variant,,ENST00000469641,;ATP13A1,downstream_gene_variant,,ENST00000497556,;ATP13A1,downstream_gene_variant,,ENST00000473243,;ATP13A1,downstream_gene_variant,,ENST00000467160,;	163	65	74	SUCCESS
ZNF708	7562	.	GRCh37	19	21512155	21512155	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	15	0	ENST00000356929.3:c.-141C>G		p.*47*	ENST00000356929	NM_021269.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32980.1	.	RADIA|MUTECT|MUSE	.	CAAGAGACAAA	NONE	.	.	.	.	.	ENSP00000349401	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,5_prime_UTR_variant,,ENST00000356929,;ZNF708,5_prime_UTR_variant,,ENST00000602023,;ZNF708,upstream_gene_variant,,ENST00000601295,;ZNF708,5_prime_UTR_variant,,ENST00000598046,;	58	15	11	SUCCESS
UPK1A-AS1	100862728	.	GRCh37	19	36159573	36159574	+	non_coding_transcript_exon_variant	RNA	INS	-	-	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	53	0	ENST00000443196.1:n.71dup		p.*24*	ENST00000443196				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12470.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGTTGGGGG	NONE	.	.	.	.	.	ENSP00000222275	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222275	Transcript	.	.	ENSG00000105668	12577	5	.	MODIFIER	2/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UPK1A_HUMAN	UPK1A	HGNC	.	.	UPI0000137CD9	insertion	UPK1A,intron_variant,,ENST00000222275,;UPK1A,intron_variant,,ENST00000379013,;UPK1A-AS1,non_coding_transcript_exon_variant,,ENST00000443196,;RN7SL765P,downstream_gene_variant,,ENST00000580260,;	.	53	44	SUCCESS
PSMC4	5704	.	GRCh37	19	40478064	40478064	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	51	1	ENST00000157812.2:c.48A>T	p.Pro16=	p.P16=	ENST00000157812	NM_006503.3	16	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12547.1	48	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATCCCAGCACT	NONE	.	.	hmmpanther:PTHR23073:SF8,hmmpanther:PTHR23073	.	.	ENSP00000157812	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000157812	Transcript	.	.	ENSG00000013275	9551	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRS6B_HUMAN	PSMC4	HGNC	A8K2M0_HUMAN	.	UPI0000132373	SNV	PSMC4,synonymous_variant,p.%3D,ENST00000157812,;PSMC4,synonymous_variant,p.%3D,ENST00000455878,;PSMC4,non_coding_transcript_exon_variant,,ENST00000593455,;PSMC4,non_coding_transcript_exon_variant,,ENST00000596386,;PSMC4,non_coding_transcript_exon_variant,,ENST00000601697,;	246	53	59	SUCCESS
CEACAM20	125931	.	GRCh37	19	45026913	45026913	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	69	0	ENST00000454753.1:n.780G>A		p.*260*	ENST00000454753				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCAATTT	NONE	.	.	.	.	.	.	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000454753	Transcript	.	.	ENSG00000176395	24879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CEACAM20	HGNC	.	.	.	SNV	CEACAM20,non_coding_transcript_exon_variant,,ENST00000414638,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000412211,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000445209,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000431738,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000448350,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000316962,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000424903,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000454753,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000421432,;	780	69	84	SUCCESS
CLASRP	11129	.	GRCh37	19	45567295	45567300	+	inframe_deletion	In_Frame_Del	DEL	TCCCGC	TCCCGC	-	rs764854324	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	TCCCGC	TCCCGC	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	75	0	ENST00000221455.3:c.947_952del	p.Arg316_Ser317del	p.R316_S317del	ENST00000221455	NM_007056.2	311	TCCCGC/-	0	.	.	.	.	.	-	SR/-	protein_coding	YES	CCDS12652.2	931-936	INDELOCATOR|VARSCANI	.	TCAGAGTCCCGCTCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4	.	.	ENSP00000221455	.	12/21	.	.	.	.	.	.	.	.	rs764854324	12/21	PASS	ENST00000221455	Transcript	.	.	ENSG00000104859	17731	16	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLASR_HUMAN	CLASRP	HGNC	K7EKC9_HUMAN	.	UPI000020262D	deletion	CLASRP,inframe_deletion,p.Arg254_Ser255del,ENST00000391953,;CLASRP,inframe_deletion,p.Arg316_Ser317del,ENST00000221455,;CLASRP,inframe_deletion,p.Arg316_Ser317del,ENST00000544944,;CLASRP,upstream_gene_variant,,ENST00000591904,;CLASRP,inframe_deletion,p.Arg316_Ser317del,ENST00000391952,;CLASRP,3_prime_UTR_variant,,ENST00000587112,;CLASRP,downstream_gene_variant,,ENST00000591410,;CLASRP,upstream_gene_variant,,ENST00000585432,;CLASRP,upstream_gene_variant,,ENST00000585615,;	1029-1034	75	76	SUCCESS
NR1H2	7376	.	GRCh37	19	50885832	50885832	+	synonymous_variant	Silent	SNP	G	G	C	rs762279456	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	29	0	ENST00000253727.5:c.1356G>C	p.Leu452=	p.L452=	ENST00000253727	NM_007121.5	452	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42593.1	1356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGTCGGA	NONE	.	.	Superfamily_domains:SSF48508,Gene3D:1.10.565.10,hmmpanther:PTHR24082:SF110,hmmpanther:PTHR24082	.	.	ENSP00000253727	.	10/10	.	.	.	.	.	.	.	.	rs762279456	10/10	PASS	ENST00000253727	Transcript	.	.	ENSG00000131408	7965	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR1H2_HUMAN	NR1H2	HGNC	M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN	.	UPI000013CDEE	SNV	NR1H2,synonymous_variant,p.%3D,ENST00000253727,;NR1H2,synonymous_variant,p.%3D,ENST00000411902,;NR1H2,synonymous_variant,p.%3D,ENST00000598168,;NR1H2,synonymous_variant,p.%3D,ENST00000593926,;NR1H2,synonymous_variant,p.%3D,ENST00000542413,;NR1H2,synonymous_variant,p.%3D,ENST00000599105,;NR1H2,downstream_gene_variant,,ENST00000600355,;POLD1,upstream_gene_variant,,ENST00000601098,;NR1H2,downstream_gene_variant,,ENST00000597790,;POLD1,upstream_gene_variant,,ENST00000599857,;NR1H2,downstream_gene_variant,,ENST00000597157,;POLD1,upstream_gene_variant,,ENST00000593887,;NR1H2,downstream_gene_variant,,ENST00000597130,;POLD1,upstream_gene_variant,,ENST00000440232,;NR1H2,3_prime_UTR_variant,,ENST00000593532,;POLD1,upstream_gene_variant,,ENST00000600859,;NR1H2,downstream_gene_variant,,ENST00000597085,;POLD1,upstream_gene_variant,,ENST00000600746,;NR1H2,downstream_gene_variant,,ENST00000595730,;	1591	29	31	SUCCESS
NLRP4	147945	.	GRCh37	19	56379080	56379080	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	48	0	ENST00000301295.6:c.2192T>C	p.Val731Ala	p.V731A	ENST00000301295	NM_134444.4	731	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12936.1	2192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTAAATT	NONE	.	.	hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000301295	.	6/10	.	.	.	.	.	.	.	.	COSM1286637	6/10	PASS	ENST00000301295	Transcript	.	.	ENSG00000160505	22943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(1)	1	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,missense_variant,p.Val731Ala,ENST00000301295,;NLRP4,missense_variant,p.Val656Ala,ENST00000587891,;NLRP4,intron_variant,,ENST00000589437,;NLRP4,intron_variant,,ENST00000346986,;	2614	48	52	SUCCESS
VN1R1	57191	.	GRCh37	19	57967008	57967008	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	88	0	ENST00000321039.3:c.847T>G	p.Phe283Val	p.F283V	ENST00000321039	NM_020633.3	283	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS12951.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAAAAAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF43,Gene3D:1.20.1070.10,Pfam_domain:PF03402,Superfamily_domains:SSF81321	.	.	ENSP00000322339	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321039	Transcript	.	.	ENSG00000178201	13548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	VN1R1_HUMAN	VN1R1	HGNC	.	.	UPI0000039957	SNV	VN1R1,missense_variant,p.Phe283Val,ENST00000321039,;AC004076.9,intron_variant,,ENST00000596831,;AC004076.9,non_coding_transcript_exon_variant,,ENST00000601945,;AC004076.9,non_coding_transcript_exon_variant,,ENST00000415705,;VN1R107P,upstream_gene_variant,,ENST00000601784,;	847	88	84	SUCCESS
VCAM1	7412	.	GRCh37	1	101190289	101190289	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770478132	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	49	116	0	ENST00000294728.2:c.771C>A	p.Phe257Leu	p.F257L	ENST00000294728	NM_001078.3	257	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS773.1	771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTGGAG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000294728	.	4/9	.	.	.	.	.	.	.	.	rs770478132	4/9	PASS	ENST00000294728	Transcript	.	.	ENSG00000162692	12663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.56)	.	VCAM1_HUMAN	VCAM1	HGNC	Q68DC4_HUMAN,G0ZI12_HUMAN,G0ZFQ0_HUMAN,F8UV74_HUMAN,F8UU18_HUMAN,F2YYR6_HUMAN	.	UPI0000000E06	SNV	VCAM1,missense_variant,p.Phe257Leu,ENST00000347652,;VCAM1,missense_variant,p.Phe257Leu,ENST00000370115,;VCAM1,missense_variant,p.Phe257Leu,ENST00000294728,;VCAM1,missense_variant,p.Phe195Leu,ENST00000370119,;	872	116	130	SUCCESS
DVL1	1855	.	GRCh37	1	1274773	1274775	+	inframe_deletion	In_Frame_Del	DEL	CGT	CGT	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	CGT	CGT	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	158	0	ENST00000378888.5:c.1099_1101del	p.Thr367del	p.T367del	ENST00000378888		367	ACG/-	0	.	.	.	.	.	-	T/-	protein_coding	YES	CCDS22.1	1099-1101	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCGCCGTGTGGG	NONE	.	.	hmmpanther:PTHR10878:SF5,hmmpanther:PTHR10878,Prints_domain:PR01760	.	.	ENSP00000368169	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000378891	Transcript	.	.	ENSG00000107404	3084	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DVL1_HUMAN	DVL1	HGNC	Q6PJD6_HUMAN,B7Z6B5_HUMAN,B7Z1E8_HUMAN	.	UPI000013D455	deletion	DVL1,inframe_deletion,p.Thr367del,ENST00000378891,;DVL1,inframe_deletion,p.Thr367del,ENST00000378888,;TAS1R3,downstream_gene_variant,,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000472445,;	1146-1148	158	94	SUCCESS
LRRC38	126755	.	GRCh37	1	13839553	13839553	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	135	0	ENST00000376085.3:c.536G>T	p.Arg179Leu	p.R179L	ENST00000376085	NM_001010847.1	179	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS53269.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24373	.	.	ENSP00000365253	.	1/2	.	.	.	.	.	.	.	.	COSM1333433	1/2	PASS	ENST00000376085	Transcript	.	.	ENSG00000162494	27005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	tolerated(0.1)	1	LRC38_HUMAN	LRRC38	HGNC	.	.	UPI00001C1D7E	SNV	LRRC38,missense_variant,p.Arg179Leu,ENST00000376085,;RP4-597A16.2,upstream_gene_variant,,ENST00000563570,;	991	135	117	SUCCESS
FLG	2312	.	GRCh37	1	152280880	152280880	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	35	124	0	ENST00000368799.1:c.6482C>G	p.Ser2161Cys	p.S2161C	ENST00000368799	NM_002016.1	2161	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS30860.1	6482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGACCTA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	COSM358207	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.7)	.	.	1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser2161Cys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6518	124	121	SUCCESS
FLG2	388698	.	GRCh37	1	152326575	152326575	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	79	0	ENST00000388718.5:c.3687A>T	p.Gly1229=	p.G1229=	ENST00000388718	NM_001014342.2	1229	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30861.1	3687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGATCCTGA	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	3760	79	76	SUCCESS
NTRK1	4914	.	GRCh37	1	156849081	156849081	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	45	0	ENST00000524377.1:c.1973T>C	p.Val658Ala	p.V658A	ENST00000524377	NM_002529.3	658	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1161.1	1973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGTGGGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF133,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000431418	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000524377	Transcript	.	.	ENSG00000198400	8031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0.02)	.	NTRK1_HUMAN	NTRK1	HGNC	.	.	UPI000013D5D3	SNV	NTRK1,missense_variant,p.Val622Ala,ENST00000392302,;NTRK1,missense_variant,p.Val658Ala,ENST00000524377,;NTRK1,missense_variant,p.Val655Ala,ENST00000358660,;NTRK1,missense_variant,p.Val652Ala,ENST00000368196,;NTRK1,upstream_gene_variant,,ENST00000531606,;NTRK1,3_prime_UTR_variant,,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,downstream_gene_variant,,ENST00000534682,;	2014	45	33	SUCCESS
CDK11B	984	.	GRCh37	1	1575792	1575792	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs377732366	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	20	182	0	ENST00000407249.3:c.1106G>T	p.Arg369Leu	p.R369L	ENST00000407249		369	cGa/cTa	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	.	1106	RADIA|MUTECT|MUSE	.	AATCTCGGTCG	NONE	byFrequency|byCluster	.	.	.	T:0.0002	ENSP00000464036	.	12/21	.	.	.	.	.	.	.	.	rs377732366	12/21	PASS	ENST00000407249	Transcript	.	.	ENSG00000248333	1729	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	.	CDK11B	HGNC	Q6P5Y5_HUMAN,Q5QPQ9_HUMAN,J3QR44_HUMAN,A4VCI5_HUMAN	.	UPI0000D61E1A	SNV	CDK11B,missense_variant,p.Arg367Leu,ENST00000317673,;CDK11B,missense_variant,p.Arg369Leu,ENST00000407249,;CDK11B,missense_variant,p.Arg356Leu,ENST00000340677,;CDK11B,missense_variant,p.Arg322Leu,ENST00000341832,;CDK11B,missense_variant,p.Arg202Leu,ENST00000513088,;	1106	183	145	SUCCESS
PTGS2	5743	.	GRCh37	1	186648486	186648486	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	126	0	ENST00000367468.5:c.137G>A	p.Arg46Gln	p.R46Q	ENST00000367468	NM_000963.2	46	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1371.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCGGGTA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR11903:SF8,hmmpanther:PTHR11903,Gene3D:2.10.25.10,Superfamily_domains:SSF57196	.	.	ENSP00000356438	.	2/10	.	.	.	.	.	.	.	.	COSM1295610,COSM1295611	2/10	PASS	ENST00000367468	Transcript	.	.	ENSG00000073756	9605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.546)	.	tolerated(0.06)	1,1	PGH2_HUMAN	PTGS2	HGNC	D9MWI3_HUMAN	.	UPI000000D926	SNV	PTGS2,missense_variant,p.Arg46Gln,ENST00000367468,;RP5-973M2.2,upstream_gene_variant,,ENST00000608917,;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,non_coding_transcript_exon_variant,,ENST00000559800,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,missense_variant,p.Arg46Gln,ENST00000559627,;	274	126	131	SUCCESS
AVPR1B	553	.	GRCh37	1	206225278	206225304	+	inframe_deletion	In_Frame_Del	DEL	GTGAAGATGACCTTTGTCATCGTGCTG	GTGAAGATGACCTTTGTCATCGTGCTG	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	GTGAAGATGACCTTTGTCATCGTGCTG	GTGAAGATGACCTTTGTCATCGTGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	65	0	ENST00000367126.4:c.839_865del	p.Val280_Leu288del	p.V280_L288del	ENST00000367126	NM_000707.3	280	GTGAAGATGACCTTTGTCATCGTGCTG/-	0	.	.	.	.	.	-	VKMTFVIVL/-	protein_coding	YES	CCDS30994.1	838-864	INDELOCATOR|VARSCANI	.	CGAACAGTGAAGATGACCTTTGTCATCGTGCTGGCCTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00896,Prints_domain:PR00237	.	.	ENSP00000356094	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367126	Transcript	.	.	ENSG00000198049	896	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	V1BR_HUMAN	AVPR1B	HGNC	.	.	UPI000005043A	deletion	AVPR1B,inframe_deletion,p.Val280_Leu288del,ENST00000367126,;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;	1303-1329	65	65	SUCCESS
KCTD3	51133	.	GRCh37	1	215768724	215768724	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	93	1	ENST00000259154.4:c.844G>C	p.Asp282His	p.D282H	ENST00000259154	NM_016121.3	282	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS1515.1	844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAGATGCT	NONE	.	.	hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000259154	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000259154	Transcript	.	.	ENSG00000136636	21305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	KCTD3_HUMAN	KCTD3	HGNC	B4DJX2_HUMAN	.	UPI0000071A2E	SNV	KCTD3,missense_variant,p.Asp282His,ENST00000259154,;	1138	94	85	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227381544	227381544	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762470521	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	69	0	ENST00000334218.5:c.542A>G	p.Tyr181Cys	p.Y181C	ENST00000334218		181	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1558.1	542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTAAAAT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000355731	.	5/36	.	.	.	.	.	.	.	.	rs762470521	5/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000366769,;CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000366765,;CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000366764,;CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000334218,;CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000366767,;CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000535525,;CDC42BPA,missense_variant,p.Tyr181Cys,ENST00000366766,;CDC42BPA,non_coding_transcript_exon_variant,,ENST00000478573,;	1834	69	68	SUCCESS
MLK4	0	.	GRCh37	1	233518139	233518139	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	94	0	ENST00000366624.3:c.2793C>T	p.Val931=	p.V931=	ENST00000366624	NM_032435.2	931	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1598.1	2793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCTCACC	NONE	.	.	PIRSF_domain:PIRSF000556	.	.	ENSP00000355583	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000366624	Transcript	.	.	ENSG00000143674	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3KL4_HUMAN	MLK4	Uniprot_gn	.	.	UPI000013D922	SNV	MLK4,synonymous_variant,p.%3D,ENST00000366624,;MLK4,synonymous_variant,p.%3D,ENST00000366622,;	3054	94	104	SUCCESS
NR0B2	8431	.	GRCh37	1	27238458	27238458	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	59	211	0	ENST00000254227.3:c.652C>G	p.Leu218Val	p.L218V	ENST00000254227	NM_021969.2	218	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS291.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGACAC	NONE	.	.	hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF0,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398	.	.	ENSP00000254227	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000254227	Transcript	.	.	ENSG00000131910	7961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.11)	.	NR0B2_HUMAN	NR0B2	HGNC	.	.	UPI0000135956	SNV	NR0B2,missense_variant,p.Leu218Val,ENST00000254227,;NUDC,intron_variant,,ENST00000435827,;	678	211	179	SUCCESS
CAMTA1	23261	.	GRCh37	1	6845578	6845580	+	5_prime_UTR_variant	5'UTR	DEL	GAG	GAG	-	rs755609750	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	GAG	GAG	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	61	0	ENST00000303635.7:c.-2_1del		p.*1*	ENST00000303635	NM_015215.2			0	-:0.0316	.	.	.	.	-	.	protein_coding	YES	CCDS30576.1	.	INDELOCATOR|VARSCANI	.	GGTCGCGAGGAGGA	NONE	.	.	.	.	-:0.0359	ENSP00000306522	.	1/23	.	.	.	.	.	.	.	.	rs755609750	1/23	common_in_exac	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	11	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	deletion	CAMTA1,5_prime_UTR_variant,,ENST00000557126,;CAMTA1,5_prime_UTR_variant,,ENST00000467404,;CAMTA1,5_prime_UTR_variant,,ENST00000303635,;CAMTA1,5_prime_UTR_variant,,ENST00000473578,;CAMTA1,upstream_gene_variant,,ENST00000439411,;RP11-312B8.1,upstream_gene_variant,,ENST00000442889,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000476163,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000490738,;CAMTA1,upstream_gene_variant,,ENST00000461311,;	195-197	61	46	SUCCESS
FASTKD5	60493	.	GRCh37	20	3128547	3128547	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	54	186	0	ENST00000380266.3:c.1170T>A	p.Val390=	p.V390=	ENST00000380266	NM_021826.4	390	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS13048.1	1170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGAACTCC	NONE	.	.	hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF30	.	.	ENSP00000369618	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380266	Transcript	.	.	ENSG00000215251	25790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAKD5_HUMAN	FASTKD5	HGNC	.	.	UPI000015F514	SNV	FASTKD5,synonymous_variant,p.%3D,ENST00000380266,;UBOX5,intron_variant,,ENST00000217173,;UBOX5,intron_variant,,ENST00000449731,;UBOX5,intron_variant,,ENST00000348031,;UBOX5-AS1,intron_variant,,ENST00000446537,;	1492	186	184	SUCCESS
C20orf194	0	.	GRCh37	20	3299040	3299040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	73	219	1	ENST00000252032.9:c.1364T>C	p.Met455Thr	p.M455T	ENST00000252032	NM_001009984.2	455	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS42851.1	1364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCATACAA	NONE	.	.	.	.	.	ENSP00000252032	.	17/37	.	.	.	.	.	.	.	.	.	17/37	PASS	ENST00000252032	Transcript	.	.	ENSG00000088854	17721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CT194_HUMAN	C20orf194	HGNC	Q3KQR5_HUMAN	.	UPI0000470A8D	SNV	C20orf194,missense_variant,p.Met455Thr,ENST00000252032,;C20orf194,missense_variant,p.Met193Thr,ENST00000453730,;C20orf194,upstream_gene_variant,,ENST00000498079,;	1432	220	223	SUCCESS
PTPRT	11122	.	GRCh37	20	40790013	40790013	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs767284742	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	57	0	ENST00000373198.4:c.2718C>A	p.Tyr906Ter	p.Y906*	ENST00000373198	NM_133170.3	906	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS42874.1	2661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGTAGCC	NONE	byFrequency	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000362283	.	17/31	.	.	.	.	.	.	.	.	rs767284742,COSM4098507,COSM4098508	17/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,stop_gained,p.Tyr877Ter,ENST00000373201,;PTPRT,stop_gained,p.Tyr896Ter,ENST00000356100,;PTPRT,stop_gained,p.Tyr906Ter,ENST00000373198,;PTPRT,stop_gained,p.Tyr890Ter,ENST00000373193,;PTPRT,stop_gained,p.Tyr877Ter,ENST00000373184,;PTPRT,stop_gained,p.Tyr886Ter,ENST00000373190,;PTPRT,stop_gained,p.Tyr887Ter,ENST00000373187,;	2661	57	65	SUCCESS
SPATA25	128497	.	GRCh37	20	44515576	44515576	+	synonymous_variant	Silent	SNP	T	T	G	rs752671899	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	32	0	ENST00000372519.3:c.264A>C	p.Arg88=	p.R88=	ENST00000372519	NM_080608.3	88	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS13383.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTTCGGCT	NONE	.	.	Pfam_domain:PF15218	.	.	ENSP00000361597	.	2/2	.	.	.	.	.	.	.	.	rs752671899	2/2	PASS	ENST00000372519	Transcript	.	.	ENSG00000149634	16158	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT25_HUMAN	SPATA25	HGNC	.	.	UPI000012861A	SNV	SPATA25,synonymous_variant,p.%3D,ENST00000372519,;ZSWIM1,downstream_gene_variant,,ENST00000372523,;NEURL2,downstream_gene_variant,,ENST00000545238,;CTSA,upstream_gene_variant,,ENST00000372484,;CTSA,upstream_gene_variant,,ENST00000354880,;CTSA,upstream_gene_variant,,ENST00000372459,;ZSWIM1,downstream_gene_variant,,ENST00000372520,;NEURL2,downstream_gene_variant,,ENST00000372518,;CTSA,upstream_gene_variant,,ENST00000607482,;CTSA,upstream_gene_variant,,ENST00000191018,;CTSA,upstream_gene_variant,,ENST00000606788,;CTSA,upstream_gene_variant,,ENST00000606394,;CTSA,upstream_gene_variant,,ENST00000607841,;CTSA,upstream_gene_variant,,ENST00000607814,;CTSA,upstream_gene_variant,,ENST00000607212,;CTSA,upstream_gene_variant,,ENST00000606066,;	309	32	40	SUCCESS
MMP9	4318	.	GRCh37	20	44642394	44642394	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	107	0	ENST00000372330.3:c.1709T>C	p.Val570Ala	p.V570A	ENST00000372330	NM_004994.2	570	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13390.1	1709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGTCTTTG	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF30,hmmpanther:PTHR10201,PROSITE_patterns:PS00024,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923	.	.	ENSP00000361405	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000372330	Transcript	1	.	ENSG00000100985	7176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	MMP9_HUMAN	MMP9	HGNC	.	.	UPI000013C712	SNV	MMP9,missense_variant,p.Val570Ala,ENST00000372330,;RP11-465L10.10,non_coding_transcript_exon_variant,,ENST00000535913,;AL162458.1,upstream_gene_variant,,ENST00000366171,;	1728	107	97	SUCCESS
PARD6B	84612	.	GRCh37	20	49366919	49366919	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	132	1	ENST00000371610.2:c.1013A>G	p.Asn338Ser	p.N338S	ENST00000371610	NM_032521.2	338	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33485.1	1013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTAATGAAG	NONE	.	.	hmmpanther:PTHR14102:SF4,hmmpanther:PTHR14102	.	.	ENSP00000360672	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371610	Transcript	.	.	ENSG00000124171	16245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	PAR6B_HUMAN	PARD6B	HGNC	.	.	UPI000006FA7C	SNV	PARD6B,missense_variant,p.Asn338Ser,ENST00000371610,;PARD6B,intron_variant,,ENST00000396039,;	1256	133	134	SUCCESS
GNAS	2778	.	GRCh37	20	57475058	57475058	+	intron_variant	Intron	SNP	A	A	G	rs73915942	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	38	0	ENST00000371085.3:c.257+1018A>G		p.*86*	ENST00000371085	NM_000516.4			0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS46622.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTATCACA	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000360141	G:0	.	.	.	.	.	.	.	.	.	rs73915942	.	PASS	ENST00000371100	Transcript	1	G:0.0002	ENSG00000087460	4392	.	.	MODIFIER	3/12	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,3_prime_UTR_variant,,ENST00000423897,;GNAS,3_prime_UTR_variant,,ENST00000338783,;GNAS,3_prime_UTR_variant,,ENST00000371081,;GNAS,3_prime_UTR_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000349036,;GNAS,intron_variant,,ENST00000371085,;GNAS,intron_variant,,ENST00000453292,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000603546,;GNAS,intron_variant,,ENST00000450130,;GNAS,intron_variant,,ENST00000306090,;GNAS,intron_variant,,ENST00000604005,;GNAS,intron_variant,,ENST00000371075,;GNAS,intron_variant,,ENST00000354359,;GNAS,intron_variant,,ENST00000371095,;GNAS,intron_variant,,ENST00000371102,;GNAS,intron_variant,,ENST00000265620,;GNAS,intron_variant,,ENST00000371100,;GNAS,non_coding_transcript_exon_variant,,ENST00000484504,;GNAS,non_coding_transcript_exon_variant,,ENST00000493744,;GNAS,non_coding_transcript_exon_variant,,ENST00000464960,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,non_coding_transcript_exon_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000477931,;GNAS,intron_variant,,ENST00000481039,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000461152,;GNAS,intron_variant,,ENST00000485673,;GNAS,intron_variant,,ENST00000467321,;GNAS,intron_variant,,ENST00000469431,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000480232,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000464788,;GNAS,intron_variant,,ENST00000488652,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000478585,;GNAS,intron_variant,,ENST00000488546,;GNAS,intron_variant,,ENST00000470512,;GNAS,intron_variant,,ENST00000492907,;GNAS,intron_variant,,ENST00000468895,;GNAS,intron_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000480975,;GNAS,intron_variant,,ENST00000476935,;GNAS,intron_variant,,ENST00000467227,;GNAS,upstream_gene_variant,,ENST00000493958,;GNAS,upstream_gene_variant,,ENST00000494081,;GNAS,intron_variant,,ENST00000487862,;GNAS,intron_variant,,ENST00000496934,;GNAS,intron_variant,,ENST00000483387,;GNAS,upstream_gene_variant,,ENST00000476196,;GNAS,upstream_gene_variant,,ENST00000487981,;	.	38	43	SUCCESS
CDH26	60437	.	GRCh37	20	58606344	58606344	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	98	0	ENST00000244047.5:c.2231C>A	p.Ala744Asp	p.A744D	ENST00000244047		744	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	.	.	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCCACAG	NONE	.	.	.	.	.	ENSP00000360030	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000370991	Transcript	.	.	ENSG00000124215	15902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious_low_confidence(0)	.	.	CDH26	HGNC	.	.	UPI000059D848	SNV	CDH26,missense_variant,p.Ala336Asp,ENST00000370991,;CDH26,missense_variant,p.Ala744Asp,ENST00000244047,;	1006	98	99	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43805592	43805592	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	83	0	ENST00000291532.3:c.498G>A	p.Arg166=	p.R166=	ENST00000291532	NM_032404.2	166	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13686.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCCGGAA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,Pfam_domain:PF15494,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000291532	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,synonymous_variant,p.%3D,ENST00000433957,;TMPRSS3,synonymous_variant,p.%3D,ENST00000398405,;TMPRSS3,synonymous_variant,p.%3D,ENST00000380399,;TMPRSS3,synonymous_variant,p.%3D,ENST00000291532,;TMPRSS3,synonymous_variant,p.%3D,ENST00000398397,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,upstream_gene_variant,,ENST00000478680,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;TMPRSS3,upstream_gene_variant,,ENST00000476848,;	1454	83	89	SUCCESS
TBX1	6899	.	GRCh37	22	19748651	19748651	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	60	220	0	ENST00000329705.7:c.258C>A	p.Pro86=	p.P86=	ENST00000329705	NM_080646.1	86	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13767.1	258	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGCCCGAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11267	.	.	ENSP00000331791	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000332710	Transcript	.	.	ENSG00000184058	11592	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBX1_HUMAN	TBX1	HGNC	D9ZGG0_HUMAN	.	UPI0000073068	SNV	TBX1,synonymous_variant,p.%3D,ENST00000332710,;TBX1,synonymous_variant,p.%3D,ENST00000359500,;TBX1,synonymous_variant,p.%3D,ENST00000329705,;TBX1,upstream_gene_variant,,ENST00000475303,;TBX1,upstream_gene_variant,,ENST00000484336,;	387	220	164	SUCCESS
PLXNB2	23654	.	GRCh37	22	50729025	50729025	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	C	C	T	rs775829129	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	29	0	ENST00000359337.4:c.-12G>A		p.X4_splice	ENST00000359337	NM_012401.3	4		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43035.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCACCCTGT	NONE	byFrequency	.	.	.	.	ENSP00000409171	.	3/37	.	.	.	.	.	.	.	.	rs775829129	3/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,splice_region_variant,,ENST00000359337,;PLXNB2,splice_region_variant,,ENST00000449103,;PLXNB2,splice_region_variant,,ENST00000432455,;PLXNB2,splice_region_variant,,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000411680,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,upstream_gene_variant,,ENST00000496720,;	130	29	37	SUCCESS
SLC9A2	6549	.	GRCh37	2	103300708	103300708	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	107	0	ENST00000233969.2:c.1338G>T	p.Val446=	p.V446=	ENST00000233969	NM_003048.3	446	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2062.1	1338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTGTTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840	.	.	ENSP00000233969	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000233969	Transcript	.	.	ENSG00000115616	11072	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9A2_HUMAN	SLC9A2	HGNC	.	.	UPI000012FD21	SNV	SLC9A2,synonymous_variant,p.%3D,ENST00000233969,;SLC9A2,upstream_gene_variant,,ENST00000467657,;	1480	107	111	SUCCESS
EPB41L5	57669	.	GRCh37	2	120836088	120836088	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	99	0	ENST00000263713.5:c.734A>T	p.Tyr245Phe	p.Y245F	ENST00000263713	NM_020909.3	245	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS2130.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATAGTT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280:SF15,hmmpanther:PTHR23280,Pfam_domain:PF09380,Gene3D:2.30.29.30,Superfamily_domains:SSF50729,Prints_domain:PR00661	.	.	ENSP00000263713	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000263713	Transcript	.	.	ENSG00000115109	19819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	E41L5_HUMAN	EPB41L5	HGNC	Q53RT1_HUMAN,Q4ZG32_HUMAN	.	UPI00001B078A	SNV	EPB41L5,missense_variant,p.Tyr245Phe,ENST00000331393,;EPB41L5,missense_variant,p.Tyr245Phe,ENST00000443902,;EPB41L5,missense_variant,p.Tyr245Phe,ENST00000263713,;EPB41L5,missense_variant,p.Tyr245Phe,ENST00000452780,;EPB41L5,missense_variant,p.Tyr245Phe,ENST00000443124,;EPB41L5,downstream_gene_variant,,ENST00000466241,;	948	99	100	SUCCESS
ERMN	57471	.	GRCh37	2	158178164	158178164	+	synonymous_variant	Silent	SNP	T	T	C	rs749945115	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	89	0	ENST00000410096.1:c.474A>G	p.Glu158=	p.E158=	ENST00000410096	NM_020711.1	158	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS42764.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATTCAAT	NONE	byFrequency	.	hmmpanther:PTHR23281	.	.	ENSP00000380453	.	4/4	.	.	.	.	.	.	.	.	rs749945115	4/4	PASS	ENST00000397283	Transcript	.	.	ENSG00000136541	29208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERMIN_HUMAN	ERMN	HGNC	C9JN04_HUMAN,C9J6B4_HUMAN,B4DKB4_HUMAN	.	UPI0000208F55	SNV	ERMN,synonymous_variant,p.%3D,ENST00000420719,;ERMN,synonymous_variant,p.%3D,ENST00000535935,;ERMN,synonymous_variant,p.%3D,ENST00000397283,;ERMN,synonymous_variant,p.%3D,ENST00000420317,;ERMN,synonymous_variant,p.%3D,ENST00000410096,;ERMN,downstream_gene_variant,,ENST00000409925,;ERMN,downstream_gene_variant,,ENST00000409216,;ERMN,downstream_gene_variant,,ENST00000419116,;ERMN,downstream_gene_variant,,ENST00000411762,;ERMN,3_prime_UTR_variant,,ENST00000409395,;	747	89	83	SUCCESS
DOCK10	55619	.	GRCh37	2	225679061	225679061	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	32	0	ENST00000258390.7:c.3385T>C	p.Ser1129Pro	p.S1129P	ENST00000258390	NM_014689.2	1129	Tcg/Ccg	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS46528.1	3385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGATTCTG	NONE	.	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	31/56	.	.	.	.	.	.	.	.	.	31/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.06)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Ser20Pro,ENST00000422684,;DOCK10,missense_variant,p.Ser1129Pro,ENST00000258390,;DOCK10,missense_variant,p.Ser1123Pro,ENST00000409592,;	3453	32	31	SUCCESS
SLC19A3	80704	.	GRCh37	2	228552226	228552226	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1574540571	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	87	0	ENST00000258403.3:c.1378A>G	p.Ile460Val	p.I460V	ENST00000258403	NM_025243.3	460	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2468.1	1378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAATATACA	NONE	.	.	hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF17,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500795	.	.	ENSP00000258403	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000258403	Transcript	.	.	ENSG00000135917	16266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.3)	.	S19A3_HUMAN	SLC19A3	HGNC	C9J4J5_HUMAN,C9IZI1_HUMAN,B8ZZ39_HUMAN	.	UPI000004DAE9	SNV	SLC19A3,missense_variant,p.Ile460Val,ENST00000258403,;SLC19A3,missense_variant,p.Ile456Val,ENST00000541617,;SLC19A3,intron_variant,,ENST00000409287,;SLC19A3,missense_variant,p.Ile460Val,ENST00000425817,;	1450	87	84	SUCCESS
NMUR1	10316	.	GRCh37	2	232390063	232390063	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	64	184	0	ENST00000305141.4:c.972A>G	p.Ser324=	p.S324=	ENST00000305141	NM_006056.4	324	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2486.1	972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTGACAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF109,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000305877	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000305141	Transcript	.	.	ENSG00000171596	4518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMUR1_HUMAN	NMUR1	HGNC	.	.	UPI0000071CAE	SNV	NMUR1,synonymous_variant,p.%3D,ENST00000305141,;	1106	184	186	SUCCESS
HEATR5B	54497	.	GRCh37	2	37283648	37283648	+	synonymous_variant	Silent	SNP	G	G	A	rs200961568	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	318	139	496	0	ENST00000233099.5:c.2334C>T	p.Val778=	p.V778=	ENST00000233099	NM_019024.1	778	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33181.1	2334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAGACTCC	NONE	byCluster	.	hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663	.	.	ENSP00000233099	.	16/36	.	.	.	.	.	.	.	.	rs200961568	16/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,synonymous_variant,p.%3D,ENST00000233099,;HEATR5B,synonymous_variant,p.%3D,ENST00000354531,;HEATR5B,upstream_gene_variant,,ENST00000467978,;	2430	496	458	SUCCESS
SMEK2	0	.	GRCh37	2	55826140	55826140	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	42	0	ENST00000345102.5:c.333G>A	p.Gln111=	p.Q111=	ENST00000345102	NM_001122964.1	111	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS46289.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCTGTGT	NONE	.	.	hmmpanther:PTHR23318:SF2,hmmpanther:PTHR23318	.	.	ENSP00000339769	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000345102	Transcript	.	.	ENSG00000138041	29267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P4R3B_HUMAN	SMEK2	HGNC	.	.	UPI00001C1DBA	SNV	SMEK2,synonymous_variant,p.%3D,ENST00000345102,;SMEK2,synonymous_variant,p.%3D,ENST00000272313,;SMEK2,synonymous_variant,p.%3D,ENST00000407823,;SMEK2,non_coding_transcript_exon_variant,,ENST00000470801,;	635	42	41	SUCCESS
PROKR1	10887	.	GRCh37	2	68882356	68882356	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746208336	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	72	0	ENST00000303786.3:c.830G>T	p.Arg277Leu	p.R277L	ENST00000303786		277	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS1889.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGCTGCC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF189,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303775	.	3/3	.	.	.	.	.	.	.	.	rs746208336	3/3	PASS	ENST00000303786	Transcript	.	.	ENSG00000169618	4524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	deleterious(0.01)	.	PKR1_HUMAN	PROKR1	HGNC	.	.	UPI000003EAA7	SNV	PROKR1,missense_variant,p.Arg277Leu,ENST00000394342,;PROKR1,missense_variant,p.Arg277Leu,ENST00000303786,;	1250	72	90	SUCCESS
POLR1A	25885	.	GRCh37	2	86297179	86297179	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs185579866	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	21	0	ENST00000263857.6:c.1828G>A	p.Val610Ile	p.V610I	ENST00000263857		610	Gtc/Atc	0	.	T:0	.	T:0.0014	.	T	V/I	protein_coding	YES	CCDS42706.1	1828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACGTAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF00623,Gene3D:2.40.40.20,SMART_domains:SM00663,Superfamily_domains:SSF64484	T:0	.	ENSP00000263857	T:0	13/34	.	.	.	.	.	.	.	.	rs185579866	13/34	PASS	ENST00000263857	Transcript	.	T:0.0002	ENSG00000068654	17264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	T:0	tolerated(0.27)	.	RPA1_HUMAN	POLR1A	HGNC	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN	.	UPI0000D7DB86	SNV	POLR1A,missense_variant,p.Val610Ile,ENST00000409681,;POLR1A,missense_variant,p.Val610Ile,ENST00000263857,;POLR1A,upstream_gene_variant,,ENST00000483538,;	2207	21	25	SUCCESS
IGKV2D-24	28885	.	GRCh37	2	90044203	90044203	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	108	286	0	ENST00000462693.1:c.124T>A	p.Ser42Thr	p.S42T	ENST00000462693		42	Tcc/Acc	0	.	.	.	.	.	A	S/T	IG_V_gene	YES	.	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCTCCTTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000417136	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000462693	Transcript	.	.	ENSG00000241566	5797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.08)	.	.	IGKV2D-24	HGNC	.	.	UPI0000176EBA	SNV	IGKV2D-24,missense_variant,p.Ser42Thr,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;	154	286	275	SUCCESS
C2ORF15	0	.	GRCh37	2	99767090	99767090	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	77	258	0	ENST00000302513.2:c.171T>C	p.Asp57=	p.D57=	ENST00000302513	NM_144706.2	57	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS2038.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATCACTT	NONE	.	.	.	.	.	ENSP00000302202	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302513	Transcript	.	.	ENSG00000273045	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB015_HUMAN	C2ORF15	Uniprot_gn	.	.	UPI000006E239	SNV	C2ORF15,synonymous_variant,p.%3D,ENST00000302513,;C2ORF15,synonymous_variant,p.%3D,ENST00000409684,;TSGA10,intron_variant,,ENST00000393483,;LIPT1,upstream_gene_variant,,ENST00000434566,;LIPT1,upstream_gene_variant,,ENST00000393473,;LIPT1,upstream_gene_variant,,ENST00000415142,;LIPT1,upstream_gene_variant,,ENST00000393471,;LIPT1,upstream_gene_variant,,ENST00000436234,;LIPT1,upstream_gene_variant,,ENST00000449211,;LIPT1,upstream_gene_variant,,ENST00000393474,;MRPL30,upstream_gene_variant,,ENST00000410042,;LIPT1,upstream_gene_variant,,ENST00000340066,;LIPT1,upstream_gene_variant,,ENST00000393477,;TSGA10,intron_variant,,ENST00000498097,;TSGA10,intron_variant,,ENST00000471174,;TSGA10,intron_variant,,ENST00000465216,;TSGA10,intron_variant,,ENST00000476849,;TSGA10,intron_variant,,ENST00000483914,;TSGA10,intron_variant,,ENST00000489348,;C2orf15,intron_variant,,ENST00000424491,;LIPT1,upstream_gene_variant,,ENST00000480170,;C2ORF15,downstream_gene_variant,,ENST00000496794,;	807	258	227	SUCCESS
NPHP3	27031	.	GRCh37	3	132400798	132400798	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	29	124	0	ENST00000337331.5:c.3949del	p.Thr1317GlnfsTer19	p.T1317Qfs*19	ENST00000337331	NM_153240.4	1317	Aca/ca	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS3078.1	3949	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCTGTTTTTA	NONE	.	.	.	.	.	ENSP00000338766	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000337331	Transcript	.	.	ENSG00000113971	7907	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPHP3_HUMAN	NPHP3	HGNC	.	.	UPI00001B6B30	deletion	NPHP3,frameshift_variant,p.Thr1317GlnfsTer19,ENST00000337331,;NPHP3,3_prime_UTR_variant,,ENST00000326682,;NPHP3,3_prime_UTR_variant,,ENST00000512094,;UBA5,downstream_gene_variant,,ENST00000493720,;UBA5,downstream_gene_variant,,ENST00000356232,;UBA5,downstream_gene_variant,,ENST00000494238,;UBA5,downstream_gene_variant,,ENST00000264991,;NPHP3,3_prime_UTR_variant,,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;NPHP3,non_coding_transcript_exon_variant,,ENST00000474871,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;NPHP3,non_coding_transcript_exon_variant,,ENST00000493732,;UBA5,downstream_gene_variant,,ENST00000468227,;	4036	124	170	SUCCESS
METTL6	131965	.	GRCh37	3	15466502	15466502	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	71	223	0	ENST00000383790.3:c.320A>G	p.Tyr107Cys	p.Y107C	ENST00000383790	NM_152396.2	107	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS43056.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATAGGCA	NONE	.	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF6,Gene3D:3.40.50.150,Pfam_domain:PF08242,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335	.	.	ENSP00000407613	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000443029	Transcript	.	.	ENSG00000206562	28343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	METL6_HUMAN	METTL6	HGNC	.	.	UPI000020ABF4	SNV	METTL6,missense_variant,p.Tyr107Cys,ENST00000383790,;METTL6,missense_variant,p.Tyr14Cys,ENST00000453819,;METTL6,missense_variant,p.Tyr107Cys,ENST00000443029,;METTL6,missense_variant,p.Tyr107Cys,ENST00000383789,;METTL6,intron_variant,,ENST00000598878,;METTL6,intron_variant,,ENST00000450816,;EAF1,upstream_gene_variant,,ENST00000396842,;EAF1,upstream_gene_variant,,ENST00000432764,;METTL6,non_coding_transcript_exon_variant,,ENST00000489881,;EAF1,upstream_gene_variant,,ENST00000449565,;	561	223	226	SUCCESS
VWA5B2	90113	.	GRCh37	3	183959370	183959370	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	52	0	ENST00000426955.2:c.3273G>A	p.Ser1091=	p.S1091=	ENST00000426955	NM_138345.1	1091	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54686.1	3273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGCCCTT	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,synonymous_variant,p.%3D,ENST00000273794,;VWA5B2,synonymous_variant,p.%3D,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;VWA5B2,downstream_gene_variant,,ENST00000474580,;ALG3,downstream_gene_variant,,ENST00000411922,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	3373	52	61	SUCCESS
DLG1	1739	.	GRCh37	3	196921381	196921381	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	78	0	ENST00000419354.1:c.398A>C	p.Glu133Ala	p.E133A	ENST00000419354		133	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS3327.1	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATTCTGGA	NONE	.	.	hmmpanther:PTHR23119,Pfam_domain:PF10608,PIRSF_domain:PIRSF001741	.	.	ENSP00000345731	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000346964	Transcript	.	.	ENSG00000075711	2900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious_low_confidence(0)	.	DLG1_HUMAN	DLG1	HGNC	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN	.	UPI000013CD24	SNV	DLG1,missense_variant,p.Glu37Ala,ENST00000453607,;DLG1,missense_variant,p.Glu133Ala,ENST00000450955,;DLG1,missense_variant,p.Glu133Ala,ENST00000419553,;DLG1,missense_variant,p.Glu133Ala,ENST00000392382,;DLG1,missense_variant,p.Glu133Ala,ENST00000357674,;DLG1,missense_variant,p.Glu133Ala,ENST00000392380,;DLG1,missense_variant,p.Glu133Ala,ENST00000456699,;DLG1,missense_variant,p.Glu133Ala,ENST00000422288,;DLG1,missense_variant,p.Glu133Ala,ENST00000448528,;DLG1,missense_variant,p.Glu133Ala,ENST00000346964,;DLG1,missense_variant,p.Glu133Ala,ENST00000419354,;DLG1,missense_variant,p.Glu133Ala,ENST00000314062,;DLG1,downstream_gene_variant,,ENST00000436682,;DLG1,non_coding_transcript_exon_variant,,ENST00000485409,;DLG1,downstream_gene_variant,,ENST00000469073,;DLG1,missense_variant,p.Glu133Ala,ENST00000392381,;DLG1,missense_variant,p.Glu133Ala,ENST00000419227,;DLG1,non_coding_transcript_exon_variant,,ENST00000471733,;	588	78	74	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057519886	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	36	111	0	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTCTGGA	SITE|p.S33P|c.97T>C|61,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32V|c.95A>T|41,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.D32E|c.96C>A|3,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5682,COSM5683,COSM27311	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.423)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	377	111	121	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913409	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	43	96	0	ENST00000349496.5:c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000349496	NM_001904.3	45	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS2694.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45Y|c.134C>A|27,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45F|c.134C>T|518,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.968)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	96	109	SUCCESS
SETMAR	6419	.	GRCh37	3	4358293	4358293	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	102	0	ENST00000358065.4:c.1418T>G	p.Phe473Cys	p.F473C	ENST00000358065	NM_006515.3	473	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS2563.2	1418	RADIA|MUTECT|MUSE	.	TCGTTTTGAAG	NONE	.	.	hmmpanther:PTHR23016,hmmpanther:PTHR23016:SF3,Pfam_domain:PF01498	.	.	ENSP00000373354	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000358065	Transcript	.	.	ENSG00000170364	10762	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	.	SETMR_HUMAN	SETMAR	HGNC	.	.	UPI000066D9D9	SNV	SETMAR,missense_variant,p.Phe473Cys,ENST00000358065,;SETMAR,missense_variant,p.Phe334Cys,ENST00000425863,;SUMF1,intron_variant,,ENST00000534863,;SETMAR,downstream_gene_variant,,ENST00000430981,;SETMAR,downstream_gene_variant,,ENST00000358950,;SETMAR,downstream_gene_variant,,ENST00000490691,;SETMAR,downstream_gene_variant,,ENST00000462115,;SETMAR,3_prime_UTR_variant,,ENST00000413809,;SETMAR,3_prime_UTR_variant,,ENST00000425046,;SUMF1,intron_variant,,ENST00000448413,;	1485	102	88	SUCCESS
SETMAR	6419	.	GRCh37	3	4358307	4358307	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	107	0	ENST00000358065.4:c.1432T>G	p.Ser478Ala	p.S478A	ENST00000358065	NM_006515.3	478	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS2563.2	1432	RADIA|MUTECT|MUSE	.	CATCTTCTCTT	NONE	.	.	hmmpanther:PTHR23016,hmmpanther:PTHR23016:SF3	.	.	ENSP00000373354	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000358065	Transcript	.	.	ENSG00000170364	10762	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.21)	.	SETMR_HUMAN	SETMAR	HGNC	.	.	UPI000066D9D9	SNV	SETMAR,missense_variant,p.Ser478Ala,ENST00000358065,;SETMAR,missense_variant,p.Ser339Ala,ENST00000425863,;SUMF1,intron_variant,,ENST00000534863,;SETMAR,downstream_gene_variant,,ENST00000430981,;SETMAR,downstream_gene_variant,,ENST00000358950,;SETMAR,downstream_gene_variant,,ENST00000490691,;SETMAR,downstream_gene_variant,,ENST00000462115,;SETMAR,3_prime_UTR_variant,,ENST00000413809,;SETMAR,3_prime_UTR_variant,,ENST00000425046,;SUMF1,intron_variant,,ENST00000448413,;	1499	107	83	SUCCESS
DHX30	22907	.	GRCh37	3	47887745	47887745	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	69	1	ENST00000445061.1:c.1183G>A	p.Asp395Asn	p.D395N	ENST00000445061	NM_138615.2	395	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2759.1	1183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGACCCT	NONE	.	.	hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934	.	.	ENSP00000405620	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000445061	Transcript	.	.	ENSG00000132153	16716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	tolerated(0.08)	.	DHX30_HUMAN	DHX30	HGNC	H7BXY3_HUMAN	.	UPI000007112B	SNV	DHX30,missense_variant,p.Asp367Asn,ENST00000348968,;DHX30,missense_variant,p.Asp423Asn,ENST00000457607,;DHX30,missense_variant,p.Asp356Asn,ENST00000446256,;DHX30,missense_variant,p.Asp395Asn,ENST00000445061,;MAP4,downstream_gene_variant,,ENST00000426837,;MAP4,downstream_gene_variant,,ENST00000429422,;MAP4,downstream_gene_variant,,ENST00000395734,;MAP4,downstream_gene_variant,,ENST00000264724,;MAP4,downstream_gene_variant,,ENST00000383737,;MIR1226,upstream_gene_variant,,ENST00000408658,;DHX30,non_coding_transcript_exon_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,upstream_gene_variant,,ENST00000474183,;DHX30,downstream_gene_variant,,ENST00000441384,;	1590	70	50	SUCCESS
SLC25A26	115286	.	GRCh37	3	66313770	66313770	+	synonymous_variant	Silent	SNP	G	G	A	rs749647301	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	87	1	ENST00000354883.6:c.420G>A	p.Leu140=	p.L140=	ENST00000354883	NM_173471.3_dupl9	140	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2905.2	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTGTATCG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF45,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000346955	.	6/11	.	.	.	.	.	.	.	.	rs749647301	6/11	PASS	ENST00000354883	Transcript	.	.	ENSG00000144741	20661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC25A26	HGNC	F8WAB8_HUMAN	.	UPI000003615A	SNV	SLC25A26,synonymous_variant,p.%3D,ENST00000354883,;SLC25A26,synonymous_variant,p.%3D,ENST00000413054,;SLC25A26,synonymous_variant,p.%3D,ENST00000336733,;SLC25A26,3_prime_UTR_variant,,ENST00000536651,;SLC25A26,non_coding_transcript_exon_variant,,ENST00000484768,;SLC25A26,synonymous_variant,p.%3D,ENST00000483224,;SLC25A26,synonymous_variant,p.%3D,ENST00000464350,;	1148	88	122	SUCCESS
FAM19A1	0	.	GRCh37	3	68588000	68588000	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	53	159	0	ENST00000478136.1:c.353G>T	p.Cys118Phe	p.C118F	ENST00000478136	NM_213609.3	118	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS54606.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTGCGCAA	NONE	.	.	hmmpanther:PTHR31770,hmmpanther:PTHR31770:SF2,Pfam_domain:PF12020	.	.	ENSP00000418575	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000478136	Transcript	.	.	ENSG00000183662	21587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	F19A1_HUMAN	FAM19A1	HGNC	.	.	UPI00001B3DB2	SNV	FAM19A1,missense_variant,p.Cys118Phe,ENST00000496687,;FAM19A1,missense_variant,p.Cys118Phe,ENST00000478136,;	843	159	153	SUCCESS
OR5K4	403278	.	GRCh37	3	98073346	98073350	+	frameshift_variant	Frame_Shift_Del	DEL	TCTTA	TCTTA	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	TCTTA	TCTTA	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	99	0	ENST00000354924.2:c.652_656del	p.Tyr218LeufsTer17	p.Y218Lfs*17	ENST00000354924	NM_001005517.1	217	TCTTAt/t	0	.	.	.	.	.	-	SY/X	protein_coding	YES	CCDS33802.1	649-653	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGATCTCTTATCTCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000347003	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354924	Transcript	.	.	ENSG00000196098	31291	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR5K4_HUMAN	OR5K4	HGNC	.	.	UPI000044D411	deletion	OR5K4,frameshift_variant,p.Tyr218LeufsTer17,ENST00000354924,;RP11-325B23.2,intron_variant,,ENST00000508616,;	649-653	99	77	SUCCESS
GLRB	2743	.	GRCh37	4	158091870	158091870	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	40	0	ENST00000264428.4:c.1484T>C	p.Ile495Thr	p.I495T	ENST00000264428	NM_000824.4	495	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3796.1	1484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTATATATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF29,hmmpanther:PTHR18945,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	.	.	ENSP00000264428	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000264428	Transcript	1	.	ENSG00000109738	4329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	GLRB_HUMAN	GLRB	HGNC	.	.	UPI000000161E	SNV	GLRB,missense_variant,p.Ile495Thr,ENST00000264428,;GLRB,missense_variant,p.Ile495Thr,ENST00000509282,;GLRB,3_prime_UTR_variant,,ENST00000541722,;GLRB,3_prime_UTR_variant,,ENST00000512619,;	1754	40	44	SUCCESS
WHSC1	0	.	GRCh37	4	1952825	1952825	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	70	0	ENST00000382895.3:c.1908C>T	p.Pro636=	p.P636=	ENST00000382895	NM_133330.2	636	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33940.1	1908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCTCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293	.	.	ENSP00000372351	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,synonymous_variant,p.%3D,ENST00000508803,;WHSC1,synonymous_variant,p.%3D,ENST00000382892,;WHSC1,synonymous_variant,p.%3D,ENST00000382895,;WHSC1,synonymous_variant,p.%3D,ENST00000382891,;WHSC1,synonymous_variant,p.%3D,ENST00000514329,;WHSC1,upstream_gene_variant,,ENST00000382888,;WHSC1,downstream_gene_variant,,ENST00000503128,;WHSC1,downstream_gene_variant,,ENST00000398261,;WHSC1,non_coding_transcript_exon_variant,,ENST00000513726,;WHSC1,non_coding_transcript_exon_variant,,ENST00000502425,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,upstream_gene_variant,,ENST00000503207,;WHSC1,upstream_gene_variant,,ENST00000505643,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000511904,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,upstream_gene_variant,,ENST00000507094,;	2339	70	60	SUCCESS
GABRA2	2555	.	GRCh37	4	46264068	46264068	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	46	113	0	ENST00000356504.1:c.934G>A	p.Ala312Thr	p.A312T	ENST00000356504	NM_001114175.1	312	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3471.1	934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCAGTTG	NONE	.	.	hmmpanther:PTHR18945:SF218,hmmpanther:PTHR18945,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01079	.	.	ENSP00000421828	.	9/10	.	.	.	.	.	.	.	.	COSM3825902,COSM3825903	9/10	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.973)	.	deleterious(0)	1,1	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	SNV	GABRA2,missense_variant,p.Ala312Thr,ENST00000510861,;GABRA2,missense_variant,p.Ala312Thr,ENST00000515082,;GABRA2,missense_variant,p.Ala312Thr,ENST00000356504,;GABRA2,missense_variant,p.Ala312Thr,ENST00000507069,;GABRA2,missense_variant,p.Ala312Thr,ENST00000381620,;GABRA2,missense_variant,p.Ala257Thr,ENST00000540012,;GABRA2,missense_variant,p.Ala312Thr,ENST00000514090,;GABRA2,3_prime_UTR_variant,,ENST00000513005,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;	1108	113	129	SUCCESS
EVC	2121	.	GRCh37	4	5812081	5812081	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	56	195	0	ENST00000264956.6:c.2798C>T	p.Thr933Ile	p.T933I	ENST00000264956	NM_153717.2	933	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS3383.1	2798	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGACTAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	.	.	ENSP00000372120	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000382674	Transcript	1	.	ENSG00000072840	3497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.59)	.	deleterious(0.03)	.	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,missense_variant,p.Thr933Ile,ENST00000382674,;EVC,missense_variant,p.Thr933Ile,ENST00000264956,;CRMP1,intron_variant,,ENST00000506216,;	2982	195	164	SUCCESS
TMPRSS11F	389208	.	GRCh37	4	68938054	68938054	+	synonymous_variant	Silent	SNP	T	T	C	rs1008123369	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	45	0	ENST00000356291.2:c.501A>G	p.Ser167=	p.S167=	ENST00000356291	NM_207407.2	167	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3520.1	501	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAATGATGG	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24256:SF64,hmmpanther:PTHR24256,Gene3D:1ivzA00,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452	.	.	ENSP00000348639	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000356291	Transcript	.	.	ENSG00000198092	29994	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM11F_HUMAN	TMPRSS11F	HGNC	.	.	UPI0000251DE7	SNV	TMPRSS11F,synonymous_variant,p.%3D,ENST00000356291,;UBA6-AS1,intron_variant,,ENST00000511571,;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000499180,;	561	45	42	SUCCESS
FNIP1	96459	.	GRCh37	5	131014861	131014861	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747230820	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	283	13	358	0	ENST00000510461.1:c.1210A>G	p.Ile404Val	p.I404V	ENST00000510461	NM_133372.2	404	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34227.1	1210	MUTECT|MUSE	.	ACAAATTGTTG	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14637	.	.	ENSP00000421985	.	12/18	.	.	.	.	.	.	.	.	rs747230820	12/18	PASS	ENST00000510461	Transcript	.	.	ENSG00000217128	29418	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.15)	.	FNIP1_HUMAN	FNIP1	HGNC	B3KX44_HUMAN	.	UPI00001AEE81	SNV	FNIP1,missense_variant,p.Ile376Val,ENST00000307968,;FNIP1,missense_variant,p.Ile404Val,ENST00000510461,;FNIP1,missense_variant,p.Ile359Val,ENST00000307954,;FNIP1,missense_variant,p.Ile404Val,ENST00000511848,;CTC-432M15.3,intron_variant,,ENST00000514667,;	1306	358	296	SUCCESS
NEUROG1	4762	.	GRCh37	5	134870747	134870747	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	74	0	ENST00000314744.4:c.634C>T	p.Pro212Ser	p.P212S	ENST00000314744	NM_006161.2	212	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS4187.1	634	MUTECT|MUSE|VARSCANS	.	GCCGGGGCGGT	NONE	.	.	hmmpanther:PTHR19290:SF76,hmmpanther:PTHR19290	.	.	ENSP00000317580	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314744	Transcript	.	.	ENSG00000181965	7764	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.11)	.	NGN1_HUMAN	NEUROG1	HGNC	F1T0H3_HUMAN	.	UPI0000072868	SNV	NEUROG1,missense_variant,p.Pro212Ser,ENST00000314744,;	893	74	72	SUCCESS
RBM27	54439	.	GRCh37	5	145610481	145610481	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	96	0	ENST00000265271.5:c.850+1G>A		p.X284_splice	ENST00000265271	NM_018989.1	284		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43378.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGTAAAA	NONE	.	.	.	.	.	ENSP00000265271	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	HIGH	6/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,splice_donor_variant,,ENST00000265271,;RBM27,splice_donor_variant,,ENST00000506502,;	.	96	77	SUCCESS
ATP10B	23120	.	GRCh37	5	160049550	160049550	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs374261198	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	65	0	ENST00000327245.5:c.1663C>T	p.Arg555Ter	p.R555*	ENST00000327245	NM_025153.2	555	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43394.1	1663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCGAACCT	NONE	.	.	Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	14/26	.	.	.	.	.	.	.	.	rs374261198	14/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,stop_gained,p.Arg555Ter,ENST00000327245,;ATP10B,stop_gained,p.Arg163Ter,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;	2510	65	68	SUCCESS
IL6ST	3572	.	GRCh37	5	55259984	55259986	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	99	34	157	0	ENST00000336909.5:c.646_648del	p.Pro216del	p.P216del	ENST00000336909		216	CCT/-	0	.	.	.	.	.	-	P/-	protein_coding	YES	CCDS3971.1	646-648	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATACAGGATCAA	NONE	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Pro216del,ENST00000522633,;IL6ST,inframe_deletion,p.Pro216del,ENST00000381287,;IL6ST,inframe_deletion,p.Pro216del,ENST00000336909,;IL6ST,inframe_deletion,p.Pro216del,ENST00000381298,;IL6ST,inframe_deletion,p.Pro216del,ENST00000536319,;IL6ST,inframe_deletion,p.Pro216del,ENST00000381294,;IL6ST,inframe_deletion,p.Pro216del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,downstream_gene_variant,,ENST00000396816,;IL6ST,downstream_gene_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Pro216del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	959-961	157	133	SUCCESS
MARVELD2	153562	.	GRCh37	5	68715559	68715559	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	55	0	ENST00000325631.5:c.347C>A	p.Ser116Ter	p.S116*	ENST00000325631	NM_001038603.2	116	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS34175.1	347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTCACCAC	NONE	.	.	hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3	.	.	ENSP00000323264	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,stop_gained,p.Ser116Ter,ENST00000436532,;MARVELD2,stop_gained,p.Ser116Ter,ENST00000325631,;MARVELD2,stop_gained,p.Ser116Ter,ENST00000413223,;MARVELD2,stop_gained,p.Ser116Ter,ENST00000512803,;MARVELD2,stop_gained,p.Ser116Ter,ENST00000454295,;MARVELD2,stop_gained,p.Ser116Ter,ENST00000515844,;RAD17,downstream_gene_variant,,ENST00000358030,;RAD17,downstream_gene_variant,,ENST00000354868,;RAD17,downstream_gene_variant,,ENST00000354312,;RAD17,downstream_gene_variant,,ENST00000509734,;RAD17,downstream_gene_variant,,ENST00000361732,;RAD17,downstream_gene_variant,,ENST00000345306,;RAD17,downstream_gene_variant,,ENST00000305138,;	421	55	73	SUCCESS
SHPRH	257218	.	GRCh37	6	146256475	146256475	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	107	0	ENST00000275233.7:c.2672A>G	p.His891Arg	p.H891R	ENST00000275233		891	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS43513.2	2672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATGCTGA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Pfam_domain:PF00176	.	.	ENSP00000356475	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0.05)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.His891Arg,ENST00000275233,;SHPRH,missense_variant,p.His891Arg,ENST00000438092,;SHPRH,missense_variant,p.His891Arg,ENST00000367505,;SHPRH,missense_variant,p.His891Arg,ENST00000367503,;SHPRH,missense_variant,p.His780Arg,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,non_coding_transcript_exon_variant,,ENST00000520752,;	2937	107	86	SUCCESS
OPRM1	4988	.	GRCh37	6	154414485	154414485	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	63	0	ENST00000330432.7:c.1164+1878T>A		p.*388*	ENST00000330432	NM_000914.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47503.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCTCTTGT	NONE	.	.	.	.	.	ENSP00000394624	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,synonymous_variant,p.%3D,ENST00000229768,;OPRM1,intron_variant,,ENST00000337049,;OPRM1,intron_variant,,ENST00000360422,;OPRM1,intron_variant,,ENST00000452687,;OPRM1,intron_variant,,ENST00000330432,;OPRM1,intron_variant,,ENST00000435918,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000414028,;OPRM1,intron_variant,,ENST00000419506,;OPRM1,intron_variant,,ENST00000434900,;OPRM1,intron_variant,,ENST00000524163,;OPRM1,intron_variant,,ENST00000522236,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,intron_variant,,ENST00000522555,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,downstream_gene_variant,,ENST00000428397,;OPRM1,intron_variant,,ENST00000519613,;OPRM1,downstream_gene_variant,,ENST00000522382,;OPRM1,downstream_gene_variant,,ENST00000521106,;OPRM1,intron_variant,,ENST00000522739,;OPRM1,intron_variant,,ENST00000519083,;OPRM1,intron_variant,,ENST00000524150,;	.	63	59	SUCCESS
TNXB	7148	.	GRCh37	6	32038115	32038115	+	synonymous_variant	Silent	SNP	T	T	C	rs1365261130	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	106	0	ENST00000375244.3:c.5067A>G	p.Ser1689=	p.S1689=	ENST00000375244		1689	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	.	.	5067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGTGAGTC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	14/44	.	.	.	.	.	.	.	.	.	14/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,synonymous_variant,p.%3D,ENST00000375247,;TNXB,synonymous_variant,p.%3D,ENST00000375244,;	5269	106	93	SUCCESS
COL11A2	1302	.	GRCh37	6	33154482	33154482	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	107	0	ENST00000374708.4:c.720G>A	p.Gln240=	p.Q240=	ENST00000374708	NM_080681.2	240	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS43452.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	5/64	.	.	.	.	.	.	.	.	.	5/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,synonymous_variant,p.%3D,ENST00000395197,;COL11A2,synonymous_variant,p.%3D,ENST00000395194,;COL11A2,synonymous_variant,p.%3D,ENST00000374713,;COL11A2,synonymous_variant,p.%3D,ENST00000361917,;COL11A2,synonymous_variant,p.%3D,ENST00000374712,;COL11A2,synonymous_variant,p.%3D,ENST00000357486,;COL11A2,synonymous_variant,p.%3D,ENST00000374708,;COL11A2,synonymous_variant,p.%3D,ENST00000457788,;COL11A2,synonymous_variant,p.%3D,ENST00000341947,;COL11A2,synonymous_variant,p.%3D,ENST00000374714,;	979	107	73	SUCCESS
DAAM2	23500	.	GRCh37	6	39832239	39832239	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	53	0	ENST00000274867.4:c.289A>G	p.Ser97Gly	p.S97G	ENST00000274867	NM_001201427.1	97	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS56426.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCAGCTGG	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF06371,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,PROSITE_profiles:PS51232	.	.	ENSP00000381876	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000398904	Transcript	.	.	ENSG00000146122	18143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	DAAM2_HUMAN	DAAM2	HGNC	.	.	UPI000020DC88	SNV	DAAM2,missense_variant,p.Ser97Gly,ENST00000274867,;DAAM2,missense_variant,p.Ser97Gly,ENST00000398904,;DAAM2,missense_variant,p.Ser97Gly,ENST00000538976,;DAAM2,downstream_gene_variant,,ENST00000405961,;DAAM2,non_coding_transcript_exon_variant,,ENST00000494405,;DAAM2,downstream_gene_variant,,ENST00000475489,;	471	53	34	SUCCESS
HSP90AB1	3326	.	GRCh37	6	44216462	44216462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	62	0	ENST00000353801.3:c.96C>A	p.Phe32Leu	p.F32L	ENST00000353801	NM_001271969.1	32	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS4909.1	96	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCTATTC	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,Gene3D:3.30.565.10,PIRSF_domain:PIRSF002583,Superfamily_domains:SSF55874,Prints_domain:PR00775	.	.	ENSP00000360609	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000371554	Transcript	.	.	ENSG00000096384	5258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	deleterious(0.05)	.	HS90B_HUMAN	HSP90AB1	HGNC	A8K3W9_HUMAN	.	UPI00001411EF	SNV	HSP90AB1,missense_variant,p.Phe32Leu,ENST00000353801,;HSP90AB1,missense_variant,p.Phe32Leu,ENST00000371554,;HSP90AB1,missense_variant,p.Phe32Leu,ENST00000371646,;	310	62	66	SUCCESS
MDN1	23195	.	GRCh37	6	90411385	90411385	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs745617924	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	39	88	0	ENST00000369393.3:c.8319del	p.Val2774PhefsTer22	p.V2774Ffs*22	ENST00000369393		2773	gaA/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS5024.1	8319	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAACTTCTTT	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	55/102	.	.	.	.	.	.	.	.	rs745617924	55/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	deletion	MDN1,frameshift_variant,p.Val2774PhefsTer22,ENST00000369393,;MDN1,frameshift_variant,p.Val2774PhefsTer22,ENST00000428876,;	8435	88	139	SUCCESS
MEST	4232	.	GRCh37	7	130140357	130140357	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	87	0	ENST00000223215.4:c.631T>G	p.Phe211Val	p.F211V	ENST00000223215	NM_001253900.1	211	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS5822.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTTTGTA	NONE	.	.	hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF25,Gene3D:3.40.50.1820,Pfam_domain:PF12697,Superfamily_domains:SSF53474	.	.	ENSP00000223215	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000223215	Transcript	.	.	ENSG00000106484	7028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.48)	.	MEST_HUMAN	MEST	HGNC	C9JCM6_HUMAN,C9JWU9_HUMAN,C9JUD2_HUMAN,C9JRA9_HUMAN,C9JG66_HUMAN,A4D1L9_HUMAN	.	UPI000006DE62	SNV	MEST,missense_variant,p.Phe69Val,ENST00000463263,;MEST,missense_variant,p.Phe202Val,ENST00000416162,;MEST,missense_variant,p.Phe202Val,ENST00000421001,;MEST,missense_variant,p.Phe202Val,ENST00000341441,;MEST,missense_variant,p.Phe211Val,ENST00000437945,;MEST,missense_variant,p.Phe211Val,ENST00000223215,;MEST,missense_variant,p.Phe202Val,ENST00000393187,;MEST,missense_variant,p.Phe202Val,ENST00000378576,;MEST,missense_variant,p.Phe202Val,ENST00000427521,;MEST,downstream_gene_variant,,ENST00000399874,;MEST,downstream_gene_variant,,ENST00000437637,;MEST,downstream_gene_variant,,ENST00000433159,;MEST,downstream_gene_variant,,ENST00000458161,;MIR335,downstream_gene_variant,,ENST00000362173,;hsa-mir-335,upstream_gene_variant,,ENST00000604666,;MEST,non_coding_transcript_exon_variant,,ENST00000462132,;MEST,downstream_gene_variant,,ENST00000460590,;MEST,non_coding_transcript_exon_variant,,ENST00000488093,;MEST,downstream_gene_variant,,ENST00000494868,;MEST,downstream_gene_variant,,ENST00000475188,;	852	87	83	SUCCESS
C7orf55-LUC7L2	0	.	GRCh37	7	139097314	139097314	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs764645452	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	70	0	ENST00000354926.4:c.797A>T	p.Lys266Met	p.K266M	ENST00000354926	NM_001270643.1	266	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS59084.1	995	MUTECT|MUSE	.	CAGCAAGAATC	NONE	.	.	hmmpanther:PTHR12375,hmmpanther:PTHR12375:SF28	.	.	ENSP00000440222	.	9/11	.	.	.	.	.	.	.	.	rs764645452	9/11	PASS	ENST00000541515	Transcript	.	.	ENSG00000269955	21608	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	.	LUC7L2	HGNC	B3KSP8_HUMAN	.	UPI0001914F36	SNV	LUC7L2,missense_variant,p.Lys332Met,ENST00000541515,;C7orf55-LUC7L2,missense_variant,p.Lys263Met,ENST00000541170,;C7orf55-LUC7L2,missense_variant,p.Lys265Met,ENST00000263545,;C7orf55-LUC7L2,missense_variant,p.Lys266Met,ENST00000354926,;C7orf55-LUC7L2,upstream_gene_variant,,ENST00000482860,;C7orf55-LUC7L2,3_prime_UTR_variant,,ENST00000456182,;C7orf55-LUC7L2,non_coding_transcript_exon_variant,,ENST00000498518,;C7orf55-LUC7L2,non_coding_transcript_exon_variant,,ENST00000463912,;	1020	70	88	SUCCESS
MGAM	8972	.	GRCh37	7	141764321	141764321	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	rs374771873	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	79	0	ENST00000549489.2:c.4483G>T	p.Glu1495Ter	p.E1495*	ENST00000549489	NM_004668.2	1495	Gaa/Taa	0	T:0	.	.	.	.	T	E/*	protein_coding	YES	CCDS47727.1	4483	MUTECT|MUSE	.	CATACGAGTGA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055	.	T:0.0001	ENSP00000447378	.	37/48	.	.	.	.	.	.	.	.	rs374771873	37/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,stop_gained,p.Glu1495Ter,ENST00000475668,;MGAM,stop_gained,p.Glu1495Ter,ENST00000549489,;	4578	79	56	SUCCESS
DFNA5	0	.	GRCh37	7	24738645	24738645	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	52	130	0	ENST00000342947.3:c.1491A>T	p.Ter497CysextTer4	p.*497Cext*4	ENST00000342947	NM_004403.2	497	tgA/tgT	0	.	.	.	.	.	A	*/C	protein_coding	YES	CCDS5389.1	1491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATCATGA	NONE	.	.	.	.	.	ENSP00000339587	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,stop_lost,p.Ter497CysextTer4,ENST00000409775,;DFNA5,stop_lost,p.Ter497CysextTer4,ENST00000342947,;DFNA5,stop_lost,p.Ter333CysextTer4,ENST00000545231,;DFNA5,stop_lost,p.Ter333CysextTer4,ENST00000419307,;DFNA5,stop_lost,p.Ter333CysextTer4,ENST00000409970,;DFNA5,downstream_gene_variant,,ENST00000430096,;MPP6,downstream_gene_variant,,ENST00000222644,;DFNA5,non_coding_transcript_exon_variant,,ENST00000479636,;	1917	130	131	SUCCESS
SUGCT	79783	.	GRCh37	7	40234573	40234573	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1181275993	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	33	0	ENST00000335693.4:c.419A>G	p.Tyr140Cys	p.Y140C	ENST00000335693	NM_001193313.1	140	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS55104.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTATGTCC	NONE	.	.	hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6,Gene3D:3.40.50.10540,Pfam_domain:PF02515,Superfamily_domains:SSF89796	.	.	ENSP00000312054	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000309930	Transcript	.	.	ENSG00000175600	16001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	SUCHY_HUMAN	SUGCT	HGNC	Q9Y6U8_HUMAN,Q75MU8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN	.	UPI000013EF6B	SNV	SUGCT,missense_variant,p.Tyr133Cys,ENST00000540834,;SUGCT,missense_variant,p.Tyr140Cys,ENST00000309930,;SUGCT,missense_variant,p.Tyr140Cys,ENST00000335693,;SUGCT,missense_variant,p.Tyr135Cys,ENST00000416370,;SUGCT,missense_variant,p.Tyr152Cys,ENST00000413931,;SUGCT,missense_variant,p.Tyr140Cys,ENST00000401647,;SUGCT,3_prime_UTR_variant,,ENST00000444074,;	443	33	27	SUCCESS
POM121L12	285877	.	GRCh37	7	53103849	53103849	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	56	0	ENST00000408890.4:c.485G>A	p.Gly162Asp	p.G162D	ENST00000408890	NM_182595.3	162	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS43584.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCCGCC	BUFFER|p.R159H|c.476G>A|3,BUFFER|p.A166T|c.496G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.11)	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,missense_variant,p.Gly162Asp,ENST00000408890,;	501	56	46	SUCCESS
VSTM2A	222008	.	GRCh37	7	54612440	54612440	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	144	1	ENST00000407838.3:c.205C>G	p.Pro69Ala	p.P69A	ENST00000407838	NM_182546.2	69	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS5512.2	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCCGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF19,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000384967	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.27)	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,missense_variant,p.Pro68Ala,ENST00000402026,;VSTM2A,missense_variant,p.Pro69Ala,ENST00000302287,;VSTM2A,missense_variant,p.Pro69Ala,ENST00000402613,;VSTM2A,missense_variant,p.Pro69Ala,ENST00000404951,;VSTM2A,missense_variant,p.Pro69Ala,ENST00000407838,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	611	145	114	SUCCESS
ASL	435	.	GRCh37	7	65553861	65553861	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	67	0	ENST00000304874.9:c.786C>G	p.Leu262=	p.L262=	ENST00000304874	NM_000048.3	262	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5531.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCTACTG	NONE	.	.	HAMAP:MF_00006,hmmpanther:PTHR11444,hmmpanther:PTHR11444:SF3,Pfam_domain:PF00206,TIGRFAM_domain:TIGR00838,Gene3D:1.20.200.10,Superfamily_domains:SSF48557,Prints_domain:PR00149	.	.	ENSP00000307188	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000304874	Transcript	.	.	ENSG00000126522	746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARLY_HUMAN	ASL	HGNC	.	.	UPI0000001634	SNV	ASL,synonymous_variant,p.%3D,ENST00000380839,;ASL,synonymous_variant,p.%3D,ENST00000395331,;ASL,synonymous_variant,p.%3D,ENST00000304874,;ASL,synonymous_variant,p.%3D,ENST00000362000,;AC068533.7,synonymous_variant,p.%3D,ENST00000450043,;ASL,synonymous_variant,p.%3D,ENST00000395332,;ASL,upstream_gene_variant,,ENST00000464970,;ASL,upstream_gene_variant,,ENST00000488343,;ASL,non_coding_transcript_exon_variant,,ENST00000493708,;ASL,downstream_gene_variant,,ENST00000487982,;	888	67	67	SUCCESS
NXPH1	30010	.	GRCh37	7	8790823	8790823	+	synonymous_variant	Silent	SNP	A	A	G	rs756854417	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	12	156	0	ENST00000405863.1:c.240A>G	p.Glu80=	p.E80=	ENST00000405863	NM_152745.2	80	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS47540.1	240	MUTECT|MUSE	.	CCAGAACCTTA	NONE	.	.	hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000384551	.	3/3	.	.	.	.	.	.	.	.	rs756854417	3/3	PASS	ENST00000405863	Transcript	.	.	ENSG00000122584	20693	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NXPH1_HUMAN	NXPH1	HGNC	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN	.	UPI000000DC02	SNV	NXPH1,synonymous_variant,p.%3D,ENST00000429542,;NXPH1,synonymous_variant,p.%3D,ENST00000405863,;NXPH1,synonymous_variant,p.%3D,ENST00000438764,;NXPH1,5_prime_UTR_variant,,ENST00000602349,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;	1151	157	166	SUCCESS
CDK14	5218	.	GRCh37	7	90546967	90546967	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	115	0	ENST00000380050.3:c.754A>G	p.Ile252Val	p.I252V	ENST00000380050	NM_001287137.1	252	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5619.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTATATTTTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF154,hmmpanther:PTHR24056,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000265741	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000265741	Transcript	.	.	ENSG00000058091	8883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.52)	.	CDK14_HUMAN	CDK14	HGNC	C9JWL6_HUMAN,C9IYJ9_HUMAN	.	UPI0000161B93	SNV	CDK14,missense_variant,p.Ile123Val,ENST00000436577,;CDK14,missense_variant,p.Ile206Val,ENST00000406263,;CDK14,missense_variant,p.Ile234Val,ENST00000265741,;CDK14,missense_variant,p.Ile252Val,ENST00000380050,;CDK14,non_coding_transcript_exon_variant,,ENST00000487145,;CDK14,3_prime_UTR_variant,,ENST00000431029,;	844	115	103	SUCCESS
FER1L6	654463	.	GRCh37	8	125103743	125103743	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	34	132	0	ENST00000399018.1:c.4471G>T	p.Gly1491Ter	p.G1491*	ENST00000399018		1491	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS43767.1	4471	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGGACCC	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	34/41	.	.	.	.	.	.	.	.	.	34/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,stop_gained,p.Gly1491Ter,ENST00000522917,;FER1L6,stop_gained,p.Gly1491Ter,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	4677	132	256	SUCCESS
MYBL1	4603	.	GRCh37	8	67505381	67505381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	488	87	411	0	ENST00000522677.3:c.736G>T	p.Val246Phe	p.V246F	ENST00000522677	NM_001080416.2	246	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS47867.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAACATGTT	NONE	.	.	Pfam_domain:PF07988,hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641	.	.	ENSP00000429633	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000522677	Transcript	.	.	ENSG00000185697	7547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious(0.04)	.	MYBA_HUMAN	MYBL1	HGNC	Q6LD85_HUMAN	.	UPI000012FADE	SNV	MYBL1,missense_variant,p.Val246Phe,ENST00000522677,;MYBL1,missense_variant,p.Val246Phe,ENST00000524176,;MYBL1,intron_variant,,ENST00000517885,;MYBL1,downstream_gene_variant,,ENST00000518079,;	1147	411	575	SUCCESS
CNTRL	11064	.	GRCh37	9	123921275	123921275	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145607154	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	39	113	0	ENST00000238341.5:c.4907C>T	p.Thr1636Ile	p.T1636I	ENST00000238341	NM_007018.4	1636	aCt/aTt	0	A:0.0002	A:0	.	A:0	.	T	T/I	protein_coding	YES	CCDS35118.1	4907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAACTGAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	A:0	A:0.0006	ENSP00000362962	A:0.001	31/44	.	.	.	.	.	.	.	.	rs145607154	31/44	PASS	ENST00000373855	Transcript	.	A:0.0002	ENSG00000119397	1858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,missense_variant,p.Thr1636Ile,ENST00000373855,;CNTRL,missense_variant,p.Thr305Ile,ENST00000431571,;CNTRL,missense_variant,p.Thr1084Ile,ENST00000373850,;CNTRL,missense_variant,p.Thr1636Ile,ENST00000238341,;CNTRL,missense_variant,p.Thr81Ile,ENST00000373844,;CNTRL,downstream_gene_variant,,ENST00000373847,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373845,;CNTRL,non_coding_transcript_exon_variant,,ENST00000491018,;	5167	113	133	SUCCESS
GRIN1	2902	.	GRCh37	9	140056943	140056943	+	synonymous_variant	Silent	SNP	C	C	A	rs780273600	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	69	0	ENST00000371561.3:c.1839C>A	p.Val613=	p.V613=	ENST00000371561	NM_007327.3	613	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55354.1	1902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGTCCTGCT	NONE	.	.	hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324,Prints_domain:PR00177	.	.	ENSP00000360608	.	14/21	.	.	.	.	.	.	.	.	rs780273600	14/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,synonymous_variant,p.%3D,ENST00000371555,;GRIN1,synonymous_variant,p.%3D,ENST00000315048,;GRIN1,synonymous_variant,p.%3D,ENST00000371561,;GRIN1,synonymous_variant,p.%3D,ENST00000371550,;GRIN1,synonymous_variant,p.%3D,ENST00000350902,;GRIN1,synonymous_variant,p.%3D,ENST00000371553,;GRIN1,synonymous_variant,p.%3D,ENST00000371559,;GRIN1,synonymous_variant,p.%3D,ENST00000371546,;GRIN1,synonymous_variant,p.%3D,ENST00000371560,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000473811,;GRIN1,downstream_gene_variant,,ENST00000485413,;GRIN1,upstream_gene_variant,,ENST00000460273,;	1908	69	57	SUCCESS
ZCCHC12	170261	.	GRCh37	X	117959625	117959625	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780680328	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	98	0	ENST00000310164.2:c.418G>T	p.Ala140Ser	p.A140S	ENST00000310164	NM_173798.2	140	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14574.1	418	RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGCTCAA	NONE	byFrequency	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF18,Pfam_domain:PF14893	.	.	ENSP00000308921	.	4/4	.	.	.	.	.	.	.	.	rs780680328,COSM1737460	4/4	PASS	ENST00000310164	Transcript	.	.	ENSG00000174460	27273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.409)	.	tolerated(0.16)	0,1	ZCH12_HUMAN	ZCCHC12	HGNC	.	.	UPI00000373C7	SNV	ZCCHC12,missense_variant,p.Ala140Ser,ENST00000310164,;	925	98	65	SUCCESS
ZCCHC12	170261	.	GRCh37	X	117959626	117959626	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	99	0	ENST00000310164.2:c.419C>T	p.Ala140Val	p.A140V	ENST00000310164	NM_173798.2	140	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14574.1	419	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGCTCAAG	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF18,Pfam_domain:PF14893	.	.	ENSP00000308921	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310164	Transcript	.	.	ENSG00000174460	27273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.297)	.	tolerated(0.1)	.	ZCH12_HUMAN	ZCCHC12	HGNC	.	.	UPI00000373C7	SNV	ZCCHC12,missense_variant,p.Ala140Val,ENST00000310164,;	926	99	65	SUCCESS
RP11-512H23.2	0	.	GRCh37	X	130930006	130930006	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	9	13	0	ENST00000394346.2:n.190C>T		p.*64*	ENST00000394346				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GCTGCGCGAAG	NONE	.	.	.	.	.	.	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000427391	Transcript	.	.	ENSG00000213468	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-453F18__B.1	Clone_based_vega_gene	.	.	.	SNV	RP11-453F18__B.1,non_coding_transcript_exon_variant,,ENST00000427391,;RP11-512H23.2,non_coding_transcript_exon_variant,,ENST00000394346,;	916	13	10	SUCCESS
SOX3	6658	.	GRCh37	X	139586656	139586656	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759119280	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	189	319	1	ENST00000370536.2:c.570C>A	p.Asp190Glu	p.D190E	ENST00000370536	NM_005634.2	190	gaC/gaA	0	.	A:0	.	A:0	.	T	D/E	protein_coding	YES	CCDS14669.1	570	RADIA|SOMATICSNIPER|VARSCANS	.	GCCTCGTCGAT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095	A:0.001	.	ENSP00000359567	A:0	1/1	.	.	.	.	.	.	.	.	rs759119280	1/1	PASS	ENST00000370536	Transcript	.	A:0.0003	ENSG00000134595	11199	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	A:0	deleterious(0)	.	SOX3_HUMAN	SOX3	HGNC	.	.	UPI000006F00F	SNV	SOX3,missense_variant,p.Asp190Glu,ENST00000370536,;	570	320	270	SUCCESS
PPP2R3B	28227	.	GRCh37	X	301663	301663	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	124	0	ENST00000390665.3:c.1188G>T	p.Trp396Cys	p.W396C	ENST00000390665	NM_013239.4	396	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS14104.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAACCAGTA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR14095,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000375080	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000390665	Transcript	.	.	ENSG00000167393	13417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	P2R3B_HUMAN	PPP2R3B	HGNC	Q96FD8_HUMAN	.	UPI00001BB8B8	SNV	PPP2R3B,missense_variant,p.Trp396Cys,ENST00000390665,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000479438,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000477110,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000484364,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000468169,;PPP2R3B,downstream_gene_variant,,ENST00000445792,;PPP2R3B,downstream_gene_variant,,ENST00000477636,;	1207	124	75	SUCCESS
USP9X	8239	.	GRCh37	X	41075386	41075386	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	126	191	0	ENST00000324545.8:c.5566G>T	p.Glu1856Ter	p.E1856*	ENST00000324545	NM_001039590.2	1856	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43930.1	5566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGAGACA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235	.	.	ENSP00000316357	.	35/45	.	.	.	.	.	.	.	.	.	35/45	PASS	ENST00000324545	Transcript	.	.	ENSG00000124486	12632	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USP9X_HUMAN	USP9X	HGNC	.	.	UPI00001AF419	SNV	USP9X,stop_gained,p.Glu1856Ter,ENST00000378308,;USP9X,stop_gained,p.Glu1856Ter,ENST00000324545,;	6199	191	169	SUCCESS
CFP	5199	.	GRCh37	X	47486303	47486303	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	33	77	0	ENST00000247153.3:c.809C>G	p.Pro270Arg	p.P270R	ENST00000247153	NM_002621.2	270	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS14282.1	809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGGGCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50092,hmmpanther:PTHR22906,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000247153	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000247153	Transcript	.	.	ENSG00000126759	8864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	tolerated(0.1)	.	PROP_HUMAN	CFP	HGNC	E9PAQ1_HUMAN,C9J7V5_HUMAN	.	UPI0000132325	SNV	CFP,missense_variant,p.Pro270Arg,ENST00000377005,;CFP,missense_variant,p.Pro135Arg,ENST00000469388,;CFP,missense_variant,p.Pro270Arg,ENST00000247153,;CFP,missense_variant,p.Pro270Arg,ENST00000396992,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,upstream_gene_variant,,ENST00000478222,;	1051	77	56	SUCCESS
CCDC3	83643	.	GRCh37	10	13040480	13040480	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	66	0	ENST00000378825.3:c.407G>T	p.Gly136Val	p.G136V	ENST00000378825	NM_031455.3	136	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7093.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTCCGTGA	NONE	.	.	hmmpanther:PTHR31663,hmmpanther:PTHR31663:SF4	.	.	ENSP00000368102	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000378825	Transcript	.	.	ENSG00000151468	23813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CCDC3_HUMAN	CCDC3	HGNC	Q5VYV9_HUMAN	.	UPI000006E69C	SNV	CCDC3,missense_variant,p.Gly11Val,ENST00000378839,;CCDC3,missense_variant,p.Gly136Val,ENST00000378825,;	534	66	90	SUCCESS
TTC40	0	.	GRCh37	10	134693042	134693042	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	66	146	0	ENST00000368586.5:c.3893T>A	p.Leu1298Gln	p.L1298Q	ENST00000368586	NM_001200049.2	1298	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS58101.1	3893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGCTGC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	29/58	.	.	.	.	.	.	.	.	.	29/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Leu1298Gln,ENST00000368582,;TTC40,missense_variant,p.Leu1298Gln,ENST00000368586,;TTC40,upstream_gene_variant,,ENST00000417862,;	3994	146	121	SUCCESS
KNDC1	85442	.	GRCh37	10	135020434	135020434	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	77	150	0	ENST00000304613.3:c.3556A>T	p.Ser1186Cys	p.S1186C	ENST00000304613		1186	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS7674.1	3556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCAGCTTG	NONE	.	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000304437	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	deleterious(0.01)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Ser1121Cys,ENST00000368571,;KNDC1,missense_variant,p.Ser1186Cys,ENST00000304613,;KNDC1,missense_variant,p.Ser1188Cys,ENST00000368572,;	3577	150	149	SUCCESS
FAM188A	0	.	GRCh37	10	15863696	15863696	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	65	71	0	ENST00000277632.3:c.760G>C	p.Val254Leu	p.V254L	ENST00000277632	NM_024948.2	254	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS7110.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTACTGCTG	NONE	.	.	hmmpanther:PTHR12473,Pfam_domain:PF13898	.	.	ENSP00000277632	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000277632	Transcript	.	.	ENSG00000148481	23578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	deleterious(0.01)	.	F188A_HUMAN	FAM188A	HGNC	.	.	UPI000006E7F1	SNV	FAM188A,missense_variant,p.Val107Leu,ENST00000436829,;FAM188A,missense_variant,p.Val254Leu,ENST00000277632,;FAM188A,missense_variant,p.Val94Leu,ENST00000418767,;FAM188A,upstream_gene_variant,,ENST00000378036,;FAM188A,non_coding_transcript_exon_variant,,ENST00000477891,;	981	71	116	SUCCESS
HNRNPF	3185	.	GRCh37	10	43883327	43883327	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	37	77	0	ENST00000337970.3:c.6G>T	p.Met2Ile	p.M2I	ENST00000337970	NM_004966.3	2	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7204.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCATCAT	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF32	.	.	ENSP00000400433	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000443950	Transcript	.	.	ENSG00000169813	5039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	tolerated(0.11)	.	HNRPF_HUMAN	HNRNPF	HGNC	Q8NI96_HUMAN,B4DKS8_HUMAN	.	UPI0000000C5C	SNV	HNRNPF,missense_variant,p.Met2Ile,ENST00000337970,;HNRNPF,missense_variant,p.Met2Ile,ENST00000357065,;HNRNPF,missense_variant,p.Met2Ile,ENST00000544000,;HNRNPF,missense_variant,p.Met2Ile,ENST00000443950,;HNRNPF,missense_variant,p.Met2Ile,ENST00000356053,;HNRNPF,non_coding_transcript_exon_variant,,ENST00000498176,;HNRNPF,non_coding_transcript_exon_variant,,ENST00000477108,;	493	77	65	SUCCESS
PCDH15	65217	.	GRCh37	10	55568461	55568461	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	31	41	0	ENST00000395440.1:c.2151A>T	p.Thr717=	p.T717=	ENST00000395440		717	acA/acT	0	.	.	.	.	.	A	T	protein_coding	.	.	2151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTGTGTT	NONE	.	.	.	.	.	ENSP00000378827	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000395440	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E5_HUMAN,A2A3D9_HUMAN	.	UPI0000EE0486	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000395440,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000395442,;PCDH15,synonymous_variant,p.%3D,ENST00000395446,;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	2546	41	48	SUCCESS
DLG5	9231	.	GRCh37	10	79553847	79553847	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	43	41	0	ENST00000372391.2:c.5575G>A	p.Asp1859Asn	p.D1859N	ENST00000372391	NM_004747.3	1859	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS7353.2	5575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTCCCTCA	NONE	.	.	PROSITE_profiles:PS50052,hmmpanther:PTHR13865,Gene3D:3.40.50.300,Pfam_domain:PF00625,SMART_domains:SM00072,Superfamily_domains:SSF52540	.	.	ENSP00000361467	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,missense_variant,p.Asp820Asn,ENST00000424842,;DLG5,missense_variant,p.Asp1519Asn,ENST00000372388,;DLG5,missense_variant,p.Asp1859Asn,ENST00000372391,;RP13-39P12.3,downstream_gene_variant,,ENST00000434097,;RP13-39P12.3,downstream_gene_variant,,ENST00000601701,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,downstream_gene_variant,,ENST00000468332,;	5581	41	64	SUCCESS
C10orf99	387695	.	GRCh37	10	85933619	85933619	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	50	0	ENST00000372126.3:c.12A>T	p.Leu4=	p.L4=	ENST00000372126	NM_207373.2	4	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7371.1	12	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTAGTCCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000361199	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000372126	Transcript	.	.	ENSG00000188373	31428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ099_HUMAN	C10orf99	HGNC	.	.	UPI0000046D02	SNV	C10orf99,synonymous_variant,p.%3D,ENST00000372126,;C10orf99,upstream_gene_variant,,ENST00000472542,;	126	50	69	SUCCESS
TRPC6	7225	.	GRCh37	11	101375006	101375006	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs200066139	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	50	0	ENST00000344327.3:c.694del	p.Tyr232MetfsTer64	p.Y232Mfs*64	ENST00000344327	NM_004621.5	232	Tat/at	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS8311.1	694	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCATATTCCT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000340913	.	2/13	.	.	.	.	.	.	.	.	rs200066139	2/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	deletion	TRPC6,frameshift_variant,p.Tyr232MetfsTer64,ENST00000532133,;TRPC6,frameshift_variant,p.Tyr232MetfsTer64,ENST00000348423,;TRPC6,frameshift_variant,p.Tyr232MetfsTer64,ENST00000344327,;TRPC6,frameshift_variant,p.Tyr232MetfsTer64,ENST00000360497,;TRPC6,downstream_gene_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;	1119	50	70	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103339360	103339360	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	59	80	0	ENST00000375735.2:c.12692A>T	p.Gln4231Leu	p.Q4231L	ENST00000375735	NM_001080463.1	4231	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS44717.1	12713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCAACTTT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF03028	.	.	ENSP00000381167	.	89/90	.	.	.	.	.	.	.	.	.	89/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Gln4238Leu,ENST00000398093,;DYNC2H1,missense_variant,p.Gln844Leu,ENST00000334267,;DYNC2H1,missense_variant,p.Gln4231Leu,ENST00000375735,;DYNC2H1,missense_variant,p.Gln148Leu,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000527252,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	12713	80	93	SUCCESS
LYVE1	10894	.	GRCh37	11	10585615	10585615	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759624633	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	53	130	0	ENST00000256178.3:c.269T>A	p.Val90Asp	p.V90D	ENST00000256178	NM_006691.3	90	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS7804.1	269	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAACCCAG	NONE	byFrequency	.	Prints_domain:PR01265,Superfamily_domains:SSF56436,SMART_domains:SM00445,Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_profiles:PS50963,hmmpanther:PTHR10225	.	.	ENSP00000256178	.	3/6	.	.	.	.	.	.	.	.	rs759624633,COSM3808229	3/6	PASS	ENST00000256178	Transcript	.	.	ENSG00000133800	14687	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.866)	.	deleterious(0)	0,1	LYVE1_HUMAN	LYVE1	HGNC	B2R672_HUMAN	.	UPI00000389CD	SNV	LYVE1,missense_variant,p.Val90Asp,ENST00000256178,;LYVE1,intron_variant,,ENST00000529598,;MRVI1-AS1,intron_variant,,ENST00000529829,;MRVI1-AS1,intron_variant,,ENST00000529979,;LYVE1,non_coding_transcript_exon_variant,,ENST00000531706,;LYVE1,synonymous_variant,p.%3D,ENST00000438354,;	428	131	149	SUCCESS
SORL1	6653	.	GRCh37	11	121475846	121475846	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	43	39	0	ENST00000260197.7:c.4676A>T	p.Gln1559Leu	p.Q1559L	ENST00000260197	NM_003105.5	1559	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS8436.1	4676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACAGAATC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000260197	.	34/48	.	.	.	.	.	.	.	.	.	34/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated_low_confidence(0.07)	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,missense_variant,p.Gln469Leu,ENST00000534286,;SORL1,missense_variant,p.Gln174Leu,ENST00000527934,;SORL1,missense_variant,p.Gln503Leu,ENST00000525532,;SORL1,missense_variant,p.Gln1559Leu,ENST00000260197,;SORL1,missense_variant,p.Gln405Leu,ENST00000532694,;SORL1,upstream_gene_variant,,ENST00000528339,;	4805	39	64	SUCCESS
OR6M1	390261	.	GRCh37	11	123676807	123676807	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs753909217	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	49	80	0	ENST00000309154.2:c.251T>A	p.Leu84Gln	p.L84Q	ENST00000309154	NM_001005325.1	84	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31696.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTAGGAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000311038	.	1/1	.	.	.	.	.	.	.	.	rs753909217	1/1	PASS	ENST00000309154	Transcript	.	.	ENSG00000196099	14711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	deleterious(0.03)	.	OR6M1_HUMAN	OR6M1	HGNC	.	.	UPI000003FE18	SNV	OR6M1,missense_variant,p.Leu84Gln,ENST00000309154,;	289	80	97	SUCCESS
PLEKHA7	144100	.	GRCh37	11	16816171	16816171	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	45	0	ENST00000355661.3:c.2609C>A	p.Thr870Asn	p.T870N	ENST00000355661		870	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS31434.1	2609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGTGGGA	NONE	.	.	hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752,Low_complexity_(Seg):seg	.	.	ENSP00000347883	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000355661	Transcript	.	.	ENSG00000166689	27049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.28)	.	PKHA7_HUMAN	PLEKHA7	HGNC	E9PL74_HUMAN,E9PIK1_HUMAN	.	UPI0000456498	SNV	PLEKHA7,missense_variant,p.Thr870Asn,ENST00000448080,;PLEKHA7,missense_variant,p.Thr870Asn,ENST00000355661,;PLEKHA7,missense_variant,p.Thr501Asn,ENST00000530489,;PLEKHA7,missense_variant,p.Thr870Asn,ENST00000531066,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,downstream_gene_variant,,ENST00000525581,;PLEKHA7,upstream_gene_variant,,ENST00000533901,;PLEKHA7,upstream_gene_variant,,ENST00000332954,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525177,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,upstream_gene_variant,,ENST00000533251,;PLEKHA7,upstream_gene_variant,,ENST00000531776,;	2620	45	48	SUCCESS
ABCC8	6833	.	GRCh37	11	17464328	17464328	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	45	0	ENST00000389817.3:c.1569G>A	p.Glu523=	p.E523=	ENST00000389817		523	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS31437.1	1569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGTCTCCAC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000374467	.	10/39	.	.	.	.	.	.	.	.	.	10/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,synonymous_variant,p.%3D,ENST00000389817,;ABCC8,synonymous_variant,p.%3D,ENST00000302539,;ABCC8,non_coding_transcript_exon_variant,,ENST00000528202,;ABCC8,synonymous_variant,p.%3D,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526002,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;	1638	45	70	SUCCESS
OR51G2	81282	.	GRCh37	11	4936771	4936771	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	64	100	0	ENST00000322013.3:c.123G>T	p.Leu41=	p.L41=	ENST00000322013	NM_001005238.1	41	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31365.1	123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCAGATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF133,Pfam_domain:PF10320,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322593	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322013	Transcript	.	.	ENSG00000176893	15198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51G2_HUMAN	OR51G2	HGNC	.	.	UPI0000041C2F	SNV	OR51G2,synonymous_variant,p.%3D,ENST00000322013,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	152	100	103	SUCCESS
OR51A2	401667	.	GRCh37	11	4976935	4976935	+	synonymous_variant	Silent	SNP	A	A	T	rs148063081	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	60	200	0	ENST00000380371.1:c.9T>A	p.Ile3=	p.I3=	ENST00000380371	NM_001004748.1	3	atT/atA	0	G:0.0051	G:0.0129	.	G:0.0014	.	T	I	protein_coding	YES	CCDS31368.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATAATGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450	G:0	G:0.0002	ENSP00000369729	G:0	1/1	.	.	.	.	.	.	.	.	rs148063081	1/1	PASS	ENST00000380371	Transcript	.	G:0.0036	ENSG00000205496	14764	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	O51A2_HUMAN	OR51A2	HGNC	.	.	UPI0000041B7B	SNV	OR51A2,synonymous_variant,p.%3D,ENST00000380371,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	9	200	241	SUCCESS
MS4A6E	245802	.	GRCh37	11	60102366	60102366	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	99	1	ENST00000300182.4:c.-3A>G		p.*1*	ENST00000300182	NM_139249.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7984.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCATTATG	NONE	.	.	.	.	.	ENSP00000300182	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000300182	Transcript	.	.	ENSG00000166926	14285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4A6E_HUMAN	MS4A6E	HGNC	H0YD45_HUMAN	.	UPI0000073D4C	SNV	MS4A6E,5_prime_UTR_variant,,ENST00000300182,;MS4A6E,upstream_gene_variant,,ENST00000532756,;MS4A6E,upstream_gene_variant,,ENST00000530509,;	63	100	86	SUCCESS
TMEM132A	54972	.	GRCh37	11	60703650	60703650	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	71	0	ENST00000453848.2:c.2343T>A	p.Ala781=	p.A781=	ENST00000453848		781	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7997.1	2346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTTGGAG	NONE	.	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388,Low_complexity_(Seg):seg	.	.	ENSP00000005286	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,synonymous_variant,p.%3D,ENST00000005286,;TMEM132A,synonymous_variant,p.%3D,ENST00000453848,;TMEM132A,3_prime_UTR_variant,,ENST00000540112,;TMEM132A,intron_variant,,ENST00000535480,;SLC15A3,downstream_gene_variant,,ENST00000227880,;TMEM132A,downstream_gene_variant,,ENST00000536409,;SLC15A3,downstream_gene_variant,,ENST00000537307,;SLC15A3,downstream_gene_variant,,ENST00000536784,;TMEM132A,downstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000536928,;TMEM132A,downstream_gene_variant,,ENST00000538090,;TMEM132A,downstream_gene_variant,,ENST00000544098,;SLC15A3,downstream_gene_variant,,ENST00000544101,;SLC15A3,downstream_gene_variant,,ENST00000543406,;SLC15A3,downstream_gene_variant,,ENST00000541505,;TMEM132A,downstream_gene_variant,,ENST00000534983,;	2499	71	55	SUCCESS
STX5	6811	.	GRCh37	11	62591640	62591640	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	92	0	ENST00000294179.3:c.906G>A		p.X302_splice	ENST00000294179	NM_001244666.1	302	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8038.2	906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCTGAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50192,hmmpanther:PTHR19957:SF3,hmmpanther:PTHR19957,PROSITE_patterns:PS00914,Pfam_domain:PF05739,Gene3D:1.20.58.70,SMART_domains:SM00397,Superfamily_domains:SSF47661	.	.	ENSP00000294179	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000294179	Transcript	.	.	ENSG00000162236	11440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX5_HUMAN	STX5	HGNC	B4DKR0_HUMAN	.	UPI00001FA9B0	SNV	STX5,synonymous_variant,p.%3D,ENST00000541317,;STX5,synonymous_variant,p.%3D,ENST00000431400,;STX5,synonymous_variant,p.%3D,ENST00000294179,;STX5,synonymous_variant,p.%3D,ENST00000394690,;STX5,synonymous_variant,p.%3D,ENST00000377897,;STX5,splice_region_variant,,ENST00000491231,;STX5,splice_region_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000486437,;STX5,downstream_gene_variant,,ENST00000488303,;	1060	92	106	SUCCESS
LGALS12	85329	.	GRCh37	11	63283717	63283717	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	26	0	ENST00000394618.3:c.865-2A>T		p.X289_splice	ENST00000394618	NM_033101.3	289		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44633.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCAGGTGC	NONE	.	.	.	.	.	ENSP00000339374	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340246	Transcript	.	.	ENSG00000133317	15788	.	.	HIGH	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LGALS12	HGNC	G5E970_HUMAN	.	UPI000014130D	SNV	LGALS12,splice_acceptor_variant,,ENST00000425950,;LGALS12,splice_acceptor_variant,,ENST00000255684,;LGALS12,splice_acceptor_variant,,ENST00000415491,;LGALS12,splice_acceptor_variant,,ENST00000340246,;LGALS12,splice_acceptor_variant,,ENST00000394618,;	.	26	23	SUCCESS
OR10A5	144124	.	GRCh37	11	6866988	6866988	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs769702593	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	7	100	0	ENST00000299454.4:c.75G>C	p.Gln25His	p.Q25H	ENST00000299454		25	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS7773.1	75	MUTECT|MUSE	.	ATACAGTCATT	NONE	byFrequency	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF90,hmmpanther:PTHR26453	.	.	ENSP00000299454	.	1/1	.	.	.	.	.	.	.	.	rs769702593	1/1	PASS	ENST00000299454	Transcript	.	.	ENSG00000166363	15131	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.841)	.	deleterious(0.02)	.	O10A5_HUMAN	OR10A5	HGNC	.	.	UPI000004C155	SNV	OR10A5,missense_variant,p.Gln29His,ENST00000379831,;OR10A5,missense_variant,p.Gln25His,ENST00000299454,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	106	100	126	SUCCESS
CLEC7A	64581	.	GRCh37	12	10282710	10282710	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	38	0	ENST00000304084.8:c.-29C>A		p.*10*	ENST00000304084	NM_197947.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41753.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATAGCATTT	NONE	.	.	.	.	.	ENSP00000302569	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000304084	Transcript	.	.	ENSG00000172243	14558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC7A_HUMAN	CLEC7A	HGNC	.	.	UPI0000073FA0	SNV	CLEC7A,5_prime_UTR_variant,,ENST00000298523,;CLEC7A,5_prime_UTR_variant,,ENST00000353231,;CLEC7A,5_prime_UTR_variant,,ENST00000304084,;CLEC7A,5_prime_UTR_variant,,ENST00000396484,;CLEC7A,5_prime_UTR_variant,,ENST00000310002,;CLEC7A,intron_variant,,ENST00000525605,;CLEC7A,upstream_gene_variant,,ENST00000533022,;CLEC7A,5_prime_UTR_variant,,ENST00000531192,;CLEC7A,non_coding_transcript_exon_variant,,ENST00000528799,;CLEC7A,non_coding_transcript_exon_variant,,ENST00000534609,;CLEC7A,intron_variant,,ENST00000529761,;CLEC7A,upstream_gene_variant,,ENST00000465100,;CLEC7A,upstream_gene_variant,,ENST00000349926,;	127	38	56	SUCCESS
TDG	6996	.	GRCh37	12	104359694	104359694	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	62	0	ENST00000392872.3:c.-122T>G		p.*41*	ENST00000392872	NM_003211.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9095.1	.	MUTECT|MUSE	.	GGTACTGCCAG	NONE	.	.	.	.	.	ENSP00000376611	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000392872	Transcript	.	.	ENSG00000139372	11700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TDG_HUMAN	TDG	HGNC	F5H539_HUMAN,B4E127_HUMAN	.	UPI00000740E5	SNV	TDG,5_prime_UTR_variant,,ENST00000544861,;TDG,5_prime_UTR_variant,,ENST00000266775,;TDG,5_prime_UTR_variant,,ENST00000537100,;TDG,5_prime_UTR_variant,,ENST00000436021,;TDG,5_prime_UTR_variant,,ENST00000392872,;C12orf73,upstream_gene_variant,,ENST00000553183,;C12orf73,upstream_gene_variant,,ENST00000543740,;TDG,non_coding_transcript_exon_variant,,ENST00000545698,;TDG,non_coding_transcript_exon_variant,,ENST00000544060,;	113	62	57	SUCCESS
SELPLG	6404	.	GRCh37	12	109017504	109017504	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	88	0	ENST00000550948.1:c.580A>T	p.Thr194Ser	p.T194S	ENST00000550948		194	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS55881.1	628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGTGGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17384:SF0,hmmpanther:PTHR17384	.	.	ENSP00000228463	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000228463	Transcript	.	.	ENSG00000110876	10722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.18)	.	SELPL_HUMAN	SELPLG	HGNC	B4DT54_HUMAN	.	UPI0002065776	SNV	SELPLG,missense_variant,p.Thr184Ser,ENST00000388962,;SELPLG,missense_variant,p.Thr210Ser,ENST00000228463,;SELPLG,missense_variant,p.Thr194Ser,ENST00000550948,;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	805	88	82	SUCCESS
DHX37	57647	.	GRCh37	12	125435079	125435079	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1220648222	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	112	0	ENST00000308736.2:c.3001G>A	p.Val1001Ile	p.V1001I	ENST00000308736	NM_032656.3	1001	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS9261.1	3001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACCTCCA	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Pfam_domain:PF07717	.	.	ENSP00000311135	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.09)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Val1001Ile,ENST00000308736,;DHX37,missense_variant,p.Val788Ile,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000542400,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;DHX37,upstream_gene_variant,,ENST00000507267,;	3100	112	63	SUCCESS
ERC1	23085	.	GRCh37	12	1553897	1553897	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	54	81	0	ENST00000360905.4:c.3194A>T	p.Gln1065Leu	p.Q1065L	ENST00000360905		1065	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS8508.1	3194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGAAGA	NONE	.	.	PROSITE_profiles:PS51511,Superfamily_domains:SSF144270	.	.	ENSP00000380386	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious_low_confidence(0.02)	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,missense_variant,p.Gln1069Leu,ENST00000546231,;ERC1,missense_variant,p.Gln1065Leu,ENST00000360905,;ERC1,missense_variant,p.Gln1065Leu,ENST00000589028,;ERC1,missense_variant,p.Gln1065Leu,ENST00000397203,;ERC1,missense_variant,p.Gln1037Leu,ENST00000543086,;ERC1,missense_variant,p.Gln1065Leu,ENST00000355446,;ERC1,missense_variant,p.Gln76Leu,ENST00000539802,;ERC1,downstream_gene_variant,,ENST00000515210,;ERC1,3_prime_UTR_variant,,ENST00000588412,;ERC1,3_prime_UTR_variant,,ENST00000545948,;ERC1,3_prime_UTR_variant,,ENST00000542302,;ERC1,3_prime_UTR_variant,,ENST00000440394,;ERC1,3_prime_UTR_variant,,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000543151,;ERC1,downstream_gene_variant,,ENST00000538971,;	3600	81	124	SUCCESS
KMT2D	8085	.	GRCh37	12	49416526	49416526	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	71	107	0	ENST00000301067.7:c.16185G>T	p.Trp5395Cys	p.W5395C	ENST00000301067	NM_003482.3	5395	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS44873.1	16185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCCATTC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Gene3D:2.170.270.10,Superfamily_domains:SSF82199	.	.	ENSP00000301067	.	51/54	.	.	.	.	.	.	.	.	.	51/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Trp5395Cys,ENST00000301067,;KMT2D,missense_variant,p.Trp76Cys,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000548950,;PRKAG1,upstream_gene_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000552212,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000316299,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000395170,;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000547125,;PRKAG1,upstream_gene_variant,,ENST00000551696,;RP11-386G11.5,downstream_gene_variant,,ENST00000547866,;RP11-386G11.5,downstream_gene_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;PRKAG1,upstream_gene_variant,,ENST00000552657,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000546531,;	16185	107	157	SUCCESS
ACVRL1	94	.	GRCh37	12	52309133	52309133	+	synonymous_variant	Silent	SNP	T	T	A	rs370666061	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	46	68	0	ENST00000388922.4:c.897T>A	p.Ala299=	p.A299=	ENST00000388922	NM_000020.2	299	gcT/gcA	0	C:0.0005	.	.	.	.	A	A	protein_coding	YES	CCDS31804.1	897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTCTGAG	NONE	byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF59,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	C:0	ENSP00000373574	.	7/10	.	.	.	.	.	.	.	.	rs370666061	7/10	PASS	ENST00000388922	Transcript	.	.	ENSG00000139567	175	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACVL1_HUMAN	ACVRL1	HGNC	D9IPD9_HUMAN,B4DUF0_HUMAN	.	UPI000000D9F4	SNV	ACVRL1,synonymous_variant,p.%3D,ENST00000550683,;ACVRL1,synonymous_variant,p.%3D,ENST00000419526,;ACVRL1,synonymous_variant,p.%3D,ENST00000388922,;ACVRL1,downstream_gene_variant,,ENST00000551576,;ACVRL1,downstream_gene_variant,,ENST00000547400,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,upstream_gene_variant,,ENST00000547632,;	1180	68	95	SUCCESS
KRT1	3848	.	GRCh37	12	53069093	53069093	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1420204921	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	75	0	ENST00000252244.3:c.1819G>C	p.Gly607Arg	p.G607R	ENST00000252244	NM_006121.3	607	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS8836.1	1819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF95,hmmpanther:PTHR23239	.	.	ENSP00000252244	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,missense_variant,p.Gly607Arg,ENST00000252244,;KRT1,downstream_gene_variant,,ENST00000548765,;	1878	75	89	SUCCESS
OR6C65	403282	.	GRCh37	12	55795077	55795077	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	89	0	ENST00000379665.2:c.765T>A	p.Phe255Leu	p.F255L	ENST00000379665	NM_001005518.1	255	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS31821.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTATGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF15,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000368986	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379665	Transcript	.	.	ENSG00000205328	31295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	O6C65_HUMAN	OR6C65	HGNC	.	.	UPI000044D410	SNV	OR6C65,missense_variant,p.Phe255Leu,ENST00000379665,;OR6C73P,downstream_gene_variant,,ENST00000546432,;	864	89	86	SUCCESS
OR6C65	403282	.	GRCh37	12	55795097	55795097	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	22	80	0	ENST00000379665.2:c.785del	p.Ala262GlufsTer7	p.A262Efs*7	ENST00000379665	NM_001005518.1	262	gCa/ga	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS31821.1	785	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCTGCAAAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF15,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000368986	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379665	Transcript	.	.	ENSG00000205328	31295	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O6C65_HUMAN	OR6C65	HGNC	.	.	UPI000044D410	deletion	OR6C65,frameshift_variant,p.Ala262GlufsTer7,ENST00000379665,;OR6C73P,downstream_gene_variant,,ENST00000546432,;	884	80	104	SUCCESS
OR6C65	403282	.	GRCh37	12	55795161	55795161	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1592284515	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	40	0	ENST00000379665.2:c.849G>T	p.Leu283Phe	p.L283F	ENST00000379665	NM_001005518.1	283	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31821.1	849	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTGAATCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF15,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000368986	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379665	Transcript	.	.	ENSG00000205328	31295	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	O6C65_HUMAN	OR6C65	HGNC	.	.	UPI000044D410	SNV	OR6C65,missense_variant,p.Leu283Phe,ENST00000379665,;OR6C73P,downstream_gene_variant,,ENST00000546432,;	948	40	42	SUCCESS
GNS	2799	.	GRCh37	12	65153197	65153197	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	14	0	ENST00000258145.3:c.-141A>T		p.*47*	ENST00000258145	NM_002076.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8970.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CTCCCTAGGCG	NONE	.	.	.	.	.	ENSP00000258145	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000258145	Transcript	.	.	ENSG00000135677	4422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GNS_HUMAN	GNS	HGNC	F5H4C6_HUMAN	.	UPI0000000CC8	SNV	GNS,5_prime_UTR_variant,,ENST00000258145,;GNS,5_prime_UTR_variant,,ENST00000542058,;GNS,upstream_gene_variant,,ENST00000543646,;snoU13,downstream_gene_variant,,ENST00000458789,;RP11-629N8.3,upstream_gene_variant,,ENST00000434563,;	31	14	13	SUCCESS
B4GALNT3	283358	.	GRCh37	12	663010	663010	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150169248	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	35	108	0	ENST00000266383.5:c.1921C>T	p.Arg641Trp	p.R641W	ENST00000266383	NM_173593.3	641	Cgg/Tgg	0	T:0.0007	T:0.0015	.	T:0	.	T	R/W	protein_coding	YES	CCDS8504.1	1921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCGGAAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369	T:0	T:0	ENSP00000266383	T:0	14/20	.	.	.	.	.	.	.	.	rs150169248	14/20	PASS	ENST00000266383	Transcript	.	T:0.0004	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.586)	T:0	deleterious(0.01)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Arg544Trp,ENST00000322843,;B4GALNT3,missense_variant,p.Arg641Trp,ENST00000266383,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	1934	108	163	SUCCESS
B4GALNT3	283358	.	GRCh37	12	663011	663011	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138791810	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	33	108	0	ENST00000266383.5:c.1922G>T	p.Arg641Leu	p.R641L	ENST00000266383	NM_173593.3	641	cGg/cTg	0	A:0.0054	A:0.0068	.	A:0.0029	.	T	R/L	protein_coding	YES	CCDS8504.1	1922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGGAATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369	A:0	A:0.0002	ENSP00000266383	A:0.001	14/20	.	.	.	.	.	.	.	.	rs138791810	14/20	PASS	ENST00000266383	Transcript	.	A:0.0024	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	A:0	deleterious(0.03)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Arg544Leu,ENST00000322843,;B4GALNT3,missense_variant,p.Arg641Leu,ENST00000266383,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	1935	108	163	SUCCESS
PTPN6	5777	.	GRCh37	12	7064872	7064872	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	65	106	0	ENST00000318974.9:c.797A>T	p.Gln266Leu	p.Q266L	ENST00000318974	NM_002831.5	266	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS44821.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCAGCGGC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF65,hmmpanther:PTHR19134,Gene3D:3.90.190.10,PIRSF_domain:PIRSF000929,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000391592	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000456013	Transcript	.	.	ENSG00000111679	9658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.16)	.	PTN6_HUMAN	PTPN6	HGNC	F5H0N8_HUMAN	.	UPI000014049A	SNV	PTPN6,missense_variant,p.Gln266Leu,ENST00000456013,;PTPN6,missense_variant,p.Gln227Leu,ENST00000447931,;PTPN6,missense_variant,p.Gln266Leu,ENST00000318974,;PTPN6,missense_variant,p.Gln268Leu,ENST00000399448,;PTPN6,downstream_gene_variant,,ENST00000538715,;PTPN6,downstream_gene_variant,,ENST00000542462,;PTPN6,downstream_gene_variant,,ENST00000541698,;PTPN6,downstream_gene_variant,,ENST00000543115,;PTPN6,downstream_gene_variant,,ENST00000534900,;PTPN6,downstream_gene_variant,,ENST00000543120,;PTPN6,downstream_gene_variant,,ENST00000542277,;PTPN6,upstream_gene_variant,,ENST00000537533,;PTPN6,downstream_gene_variant,,ENST00000540740,;PTPN6,upstream_gene_variant,,ENST00000539029,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,downstream_gene_variant,,ENST00000535462,;PTPN6,upstream_gene_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,downstream_gene_variant,,ENST00000543744,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000536013,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000536521,;	1039	106	153	SUCCESS
KRR1	11103	.	GRCh37	12	75902132	75902132	+	synonymous_variant	Silent	SNP	G	G	A	rs116518964	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	48	95	0	ENST00000229214.4:c.180C>T	p.Phe60=	p.F60=	ENST00000229214	NM_007043.6	60	ttC/ttT	0	.	A:0.0008	.	A:0	.	A	F	protein_coding	YES	CCDS9012.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCGAAACT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12581,PIRSF_domain:PIRSF006515	A:0.001	.	ENSP00000229214	A:0	2/10	.	.	.	.	.	.	.	.	rs116518964,COSM1364231	2/10	PASS	ENST00000229214	Transcript	.	A:0.0004	ENSG00000111615	5176	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	KRR1_HUMAN	KRR1	HGNC	.	.	UPI00001403EE	SNV	KRR1,synonymous_variant,p.%3D,ENST00000229214,;KRR1,synonymous_variant,p.%3D,ENST00000438169,;GLIPR1,downstream_gene_variant,,ENST00000266659,;KRR1,non_coding_transcript_exon_variant,,ENST00000550898,;KRR1,non_coding_transcript_exon_variant,,ENST00000550023,;KRR1,upstream_gene_variant,,ENST00000551070,;	204	95	97	SUCCESS
SOCS2	8835	.	GRCh37	12	93968804	93968804	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	67	110	0	ENST00000340600.2:c.446A>T	p.His149Leu	p.H149L	ENST00000340600	NM_003877.4	149	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS9047.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCACCTTT	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10385:SF27,hmmpanther:PTHR10385,Gene3D:3.30.505.10	.	.	ENSP00000339428	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340600	Transcript	.	.	ENSG00000120833	19382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.38)	.	tolerated(0.09)	.	SOCS2_HUMAN	SOCS2	HGNC	F8VU91_HUMAN,F8VRV3_HUMAN,B4DMW5_HUMAN	.	UPI0000135B63	SNV	SOCS2,missense_variant,p.His149Leu,ENST00000549206,;SOCS2,missense_variant,p.His149Leu,ENST00000340600,;SOCS2,missense_variant,p.His22Leu,ENST00000551883,;SOCS2,missense_variant,p.His149Leu,ENST00000551556,;SOCS2,missense_variant,p.His149Leu,ENST00000549887,;SOCS2,missense_variant,p.His149Leu,ENST00000536696,;SOCS2,missense_variant,p.His149Leu,ENST00000549122,;SOCS2,3_prime_UTR_variant,,ENST00000548537,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2,downstream_gene_variant,,ENST00000548091,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;	1044	110	106	SUCCESS
NTN4	59277	.	GRCh37	12	96104336	96104336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	81	0	ENST00000343702.4:c.1063A>G	p.Ser355Gly	p.S355G	ENST00000343702	NM_021229.3	355	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS9054.1	1063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTACGAT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000340998	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000343702	Transcript	.	.	ENSG00000074527	13658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	deleterious(0)	.	NET4_HUMAN	NTN4	HGNC	F8W0I7_HUMAN	.	UPI0000049824	SNV	NTN4,missense_variant,p.Ser318Gly,ENST00000344911,;NTN4,missense_variant,p.Ser318Gly,ENST00000538383,;NTN4,missense_variant,p.Ser355Gly,ENST00000553059,;NTN4,missense_variant,p.Ser355Gly,ENST00000343702,;NTN4,downstream_gene_variant,,ENST00000552603,;	1512	81	68	SUCCESS
LATS2	26524	.	GRCh37	13	21620238	21620238	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	51	0	ENST00000382592.4:c.-73G>C		p.*25*	ENST00000382592	NM_014572.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9294.1	.	MUTECT|MUSE	.	ACTGTCAATAG	NONE	.	.	.	.	.	ENSP00000372035	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000382592	Transcript	.	.	ENSG00000150457	6515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LATS2_HUMAN	LATS2	HGNC	.	.	UPI000013DBF5	SNV	LATS2,5_prime_UTR_variant,,ENST00000542899,;LATS2,5_prime_UTR_variant,,ENST00000382592,;	334	51	73	SUCCESS
SACS	26278	.	GRCh37	13	23909572	23909572	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	41	0	ENST00000382292.3:c.8443C>A	p.Leu2815Ile	p.L2815I	ENST00000382292		2815	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS9300.2	8443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAAGATTTC	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Leu2815Ile,ENST00000382292,;SACS,missense_variant,p.Leu2065Ile,ENST00000402364,;SACS,missense_variant,p.Leu2815Ile,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	9032	41	88	SUCCESS
SUPT20H	55578	.	GRCh37	13	37621713	37621713	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs530162287	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	86	368	0	ENST00000350612.6:c.124G>T	p.Asp42Tyr	p.D42Y	ENST00000350612	NM_001014286.2	42	Gac/Tac	0	.	A:0	.	A:0.0029	.	A	D/Y	protein_coding	YES	CCDS31959.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCATAAA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3	A:0	.	ENSP00000218894	A:0	5/26	.	.	.	.	.	.	.	.	rs530162287	5/26	PASS	ENST00000350612	Transcript	.	A:0.0004	ENSG00000102710	20596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	A:0	deleterious(0)	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,missense_variant,p.Asp42Tyr,ENST00000350612,;SUPT20H,missense_variant,p.Asp30Tyr,ENST00000542180,;SUPT20H,missense_variant,p.Asp42Tyr,ENST00000360252,;SUPT20H,missense_variant,p.Asp42Tyr,ENST00000464744,;SUPT20H,missense_variant,p.Asp42Tyr,ENST00000497318,;SUPT20H,missense_variant,p.Asp42Tyr,ENST00000356185,;SUPT20H,missense_variant,p.Asp42Tyr,ENST00000475892,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000476109,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000483241,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000470359,;SUPT20H,downstream_gene_variant,,ENST00000488590,;SUPT20H,missense_variant,p.Asp30Tyr,ENST00000490716,;SUPT20H,missense_variant,p.Asp30Tyr,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000471868,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000493537,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000464572,;	345	368	133	SUCCESS
DIAPH3	81624	.	GRCh37	13	60544097	60544097	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	172	130	0	ENST00000400324.4:c.2055A>T	p.Thr685=	p.T685=	ENST00000400324	NM_001042517.1	685	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41898.1	2055	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATGTATT	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000383178	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000400324	Transcript	.	.	ENSG00000139734	15480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIAP3_HUMAN	DIAPH3	HGNC	.	.	UPI0000DAC774	SNV	DIAPH3,synonymous_variant,p.%3D,ENST00000400324,;DIAPH3,synonymous_variant,p.%3D,ENST00000267215,;DIAPH3,synonymous_variant,p.%3D,ENST00000400319,;DIAPH3,synonymous_variant,p.%3D,ENST00000400330,;DIAPH3,synonymous_variant,p.%3D,ENST00000377908,;DIAPH3,synonymous_variant,p.%3D,ENST00000400320,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;	2276	130	219	SUCCESS
JAG2	3714	.	GRCh37	14	105609336	105609336	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1292064765	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	8	20	0	ENST00000331782.3:c.3413T>C	p.Ile1138Thr	p.I1138T	ENST00000331782	NM_002226.4	1138	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS9998.1	3413	MUTECT|MUSE	.	GCTCAATGGGG	CODON|p.I1138I|c.3414T>C|6	.	.	hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044	.	.	ENSP00000328169	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000331782	Transcript	.	.	ENSG00000184916	6189	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	tolerated(0.06)	.	JAG2_HUMAN	JAG2	HGNC	.	.	UPI0000167BD5	SNV	JAG2,missense_variant,p.Ile1100Thr,ENST00000347004,;JAG2,missense_variant,p.Ile1138Thr,ENST00000331782,;JAG2,non_coding_transcript_exon_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553244,;	3817	20	9	SUCCESS
IGHE	3497	.	GRCh37	14	106067929	106067929	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782435085	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	123	0	ENST00000390541.2:c.137G>A	p.Gly46Asp	p.G46D	ENST00000390541		46	gGc/gAc	0	.	.	.	.	.	T	G/D	IG_C_gene	YES	.	137	MUTECT|MUSE	.	GGGAGCCTGTG	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF90,PROSITE_profiles:PS50835	.	.	ENSP00000374983	.	1/4	.	.	.	.	.	.	.	.	rs782435085	1/4	PASS	ENST00000390541	Transcript	.	.	ENSG00000211891	5522	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.287)	.	tolerated(0.36)	.	IGHE_HUMAN	IGHE	HGNC	.	.	UPI000004BB48	SNV	IGHE,missense_variant,p.Gly46Asp,ENST00000390541,;IGHE,upstream_gene_variant,,ENST00000576077,;IGHE,upstream_gene_variant,,ENST00000577108,;RP11-731F5.1,non_coding_transcript_exon_variant,,ENST00000390540,;RP11-731F5.1,downstream_gene_variant,,ENST00000479229,;AL928742.12,upstream_gene_variant,,ENST00000428654,;AL928742.12,upstream_gene_variant,,ENST00000427543,;AL928742.12,upstream_gene_variant,,ENST00000420153,;AL928742.12,upstream_gene_variant,,ENST00000412518,;	137	123	37	SUCCESS
RNASE3	6037	.	GRCh37	14	21360026	21360026	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs183860442	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	59	0	ENST00000304639.3:c.181C>T	p.Arg61Ter	p.R61*	ENST00000304639	NM_002935.2	61	Cga/Tga	0	.	T:0	.	T:0	.	T	R/*	protein_coding	YES	CCDS9560.1	181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATCGATGG	NONE	byCluster|by1000G	.	Prints_domain:PR00794,Superfamily_domains:SSF54076,SMART_domains:SM00092,Gene3D:3.10.130.10,Pfam_domain:PF00074,hmmpanther:PTHR11437:SF3,hmmpanther:PTHR11437	T:0	.	ENSP00000302324	T:0.001	2/2	.	.	.	.	.	.	.	.	rs183860442,COSM3419691	2/2	PASS	ENST00000304639	Transcript	.	T:0.0002	ENSG00000169397	10046	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	ECP_HUMAN	RNASE3	HGNC	.	.	UPI000013E9AE	SNV	RNASE3,stop_gained,p.Arg61Ter,ENST00000304639,;	239	59	63	SUCCESS
C14orf183	0	.	GRCh37	14	50558262	50558262	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	27	36	1	ENST00000305273.1:c.306G>A	p.Gly102=	p.G102=	ENST00000305273	NM_001014830.1	102	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45101.1	306	SOMATICSNIPER|VARSCANS	.	GTGCACCCCAT	NONE	.	.	.	.	.	ENSP00000303234	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000305273	Transcript	.	.	ENSG00000168260	27285	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CN183_HUMAN	C14orf183	HGNC	.	.	UPI00000733F8	SNV	C14orf183,synonymous_variant,p.%3D,ENST00000305273,;RP11-58E21.7,upstream_gene_variant,,ENST00000556019,;RP11-58E21.5,upstream_gene_variant,,ENST00000603228,;Y_RNA,downstream_gene_variant,,ENST00000515983,;	306	37	32	SUCCESS
NIN	51199	.	GRCh37	14	51224347	51224347	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749874600	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	62	92	0	ENST00000382041.3:c.3401A>T	p.Gln1134Leu	p.Q1134L	ENST00000382041	NM_016350.4	1134	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32079.1	3401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTTGCTTC	NONE	.	.	hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11	.	.	ENSP00000371472	.	18/30	.	.	.	.	.	.	.	.	rs749874600	18/30	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.13)	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,missense_variant,p.Gln1134Leu,ENST00000245441,;NIN,missense_variant,p.Gln1134Leu,ENST00000324330,;NIN,missense_variant,p.Gln1134Leu,ENST00000382041,;NIN,missense_variant,p.Gln625Leu,ENST00000389869,;NIN,missense_variant,p.Gln625Leu,ENST00000530853,;NIN,missense_variant,p.Gln1134Leu,ENST00000453196,;NIN,missense_variant,p.Gln1134Leu,ENST00000530997,;NIN,intron_variant,,ENST00000389868,;NIN,intron_variant,,ENST00000382043,;NIN,missense_variant,p.Gln1134Leu,ENST00000476352,;	3592	92	75	SUCCESS
KTN1	3895	.	GRCh37	14	56113703	56113703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	31	54	0	ENST00000395314.3:c.2185G>A	p.Val729Ile	p.V729I	ENST00000395314	NM_001079521.1	729	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS41957.1	2185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGTTGTG	NONE	.	.	hmmpanther:PTHR18864	.	.	ENSP00000378725	.	19/44	.	.	.	.	.	.	.	.	.	19/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.34)	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,missense_variant,p.Val729Ile,ENST00000395308,;KTN1,missense_variant,p.Val729Ile,ENST00000438792,;KTN1,missense_variant,p.Val729Ile,ENST00000395309,;KTN1,missense_variant,p.Val729Ile,ENST00000413890,;KTN1,missense_variant,p.Val24Ile,ENST00000554890,;KTN1,missense_variant,p.Val24Ile,ENST00000554507,;KTN1,missense_variant,p.Val729Ile,ENST00000395311,;KTN1,missense_variant,p.Val729Ile,ENST00000395314,;KTN1,missense_variant,p.Val729Ile,ENST00000416613,;Y_RNA,upstream_gene_variant,,ENST00000363872,;KTN1,missense_variant,p.Val729Ile,ENST00000459737,;KTN1,missense_variant,p.Val9Ile,ENST00000553360,;KTN1,upstream_gene_variant,,ENST00000555164,;	2253	54	40	SUCCESS
AP5M1	55745	.	GRCh37	14	57741303	57741303	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	45	74	0	ENST00000261558.3:c.416A>C	p.Gln139Pro	p.Q139P	ENST00000261558	NM_018229.3	139	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS9729.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACAGGATT	NONE	.	.	hmmpanther:PTHR16082:SF2,hmmpanther:PTHR16082	.	.	ENSP00000261558	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000261558	Transcript	.	.	ENSG00000053770	20192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	deleterious(0.04)	.	AP5M1_HUMAN	AP5M1	HGNC	H0YIY0_HUMAN,G3V573_HUMAN	.	UPI00000719DE	SNV	AP5M1,missense_variant,p.Gln139Pro,ENST00000261558,;AP5M1,missense_variant,p.Gln153Pro,ENST00000431972,;AP5M1,missense_variant,p.Gln36Pro,ENST00000556995,;AP5M1,upstream_gene_variant,,ENST00000556723,;AP5M1,downstream_gene_variant,,ENST00000554213,;AP5M1,non_coding_transcript_exon_variant,,ENST00000554931,;AP5M1,intron_variant,,ENST00000555448,;	822	74	60	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68219127	68219127	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	39	68	0	ENST00000347230.4:c.7305A>T	p.Ala2435=	p.A2435=	ENST00000347230	NM_015346.3	2435	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9788.1	7305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTGCCAT	NONE	.	.	.	.	.	ENSP00000251119	.	40/42	.	.	.	.	.	.	.	.	.	40/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,synonymous_variant,p.%3D,ENST00000557306,;ZFYVE26,synonymous_variant,p.%3D,ENST00000347230,;RN7SL213P,upstream_gene_variant,,ENST00000463482,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000394455,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,downstream_gene_variant,,ENST00000554783,;	7444	68	65	SUCCESS
PLA2G4F	255189	.	GRCh37	15	42442915	42442915	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	57	0	ENST00000397272.3:c.662T>A	p.Leu221Gln	p.L221Q	ENST00000397272	NM_213600.3	221	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32204.1	662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22	.	.	ENSP00000371833	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000382396	Transcript	.	.	ENSG00000168907	27396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	deleterious(0.02)	.	PA24F_HUMAN	PLA2G4F	HGNC	.	.	UPI0000160965	SNV	PLA2G4F,missense_variant,p.Leu221Gln,ENST00000397272,;PLA2G4F,missense_variant,p.Leu221Gln,ENST00000382396,;PLA2G4F,splice_region_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,3_prime_UTR_variant,,ENST00000561627,;PLA2G4F,downstream_gene_variant,,ENST00000565553,;PLA2G4F,upstream_gene_variant,,ENST00000561893,;	749	57	41	SUCCESS
UNC13C	440279	.	GRCh37	15	54305537	54305537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	35	113	0	ENST00000260323.11:c.437A>T	p.His146Leu	p.H146L	ENST00000260323	NM_001080534.1	146	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS45264.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACACACAA	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.24)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.His146Leu,ENST00000537900,;UNC13C,missense_variant,p.His146Leu,ENST00000545554,;UNC13C,missense_variant,p.His146Leu,ENST00000260323,;	437	113	121	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79066995	79066995	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs779027154	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	33	0	ENST00000388820.4:c.1847T>A	p.Leu616Gln	p.L616Q	ENST00000388820	NM_014272.3	616	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32303.1	1847	RADIA|MUTECT|MUSE	.	TGTGCAGCTGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142	.	.	ENSP00000373472	.	12/24	.	.	.	.	.	.	.	.	rs779027154	12/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.677)	.	tolerated(0.06)	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,missense_variant,p.Leu616Gln,ENST00000388820,;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	2058	33	10	SUCCESS
RGMA	56963	.	GRCh37	15	93588391	93588391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201783150	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	104	0	ENST00000329082.7:c.1190C>T	p.Ala397Val	p.A397V	ENST00000329082	NM_020211.2	397	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS53974.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACGCGTAG	NONE	by1000G	.	Pfam_domain:PF06534,hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF4	.	.	ENSP00000452126	.	4/4	.	.	.	.	.	.	.	.	rs201783150	4/4	PASS	ENST00000557301	Transcript	.	.	ENSG00000182175	30308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	RGMA	HGNC	G3V518_HUMAN,G3V4C2_HUMAN,F5H7G2_HUMAN,F5GZU6_HUMAN	.	UPI0002065681	SNV	RGMA,missense_variant,p.Ala288Val,ENST00000538818,;RGMA,missense_variant,p.Ala405Val,ENST00000557301,;RGMA,missense_variant,p.Ala288Val,ENST00000556658,;RGMA,missense_variant,p.Ala397Val,ENST00000329082,;RGMA,missense_variant,p.Ala381Val,ENST00000425933,;RGMA,missense_variant,p.Ala381Val,ENST00000542321,;RGMA,missense_variant,p.Ala381Val,ENST00000543599,;RGMA,3_prime_UTR_variant,,ENST00000557420,;RGMA,3_prime_UTR_variant,,ENST00000554387,;	1321	104	80	SUCCESS
MCTP2	55784	.	GRCh37	15	94945910	94945910	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	25	0	ENST00000357742.4:c.2085+662A>T		p.*695*	ENST00000357742	NM_018349.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32338.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCAGGGCA	NONE	.	.	.	.	.	ENSP00000350377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODIFIER	16/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,3_prime_UTR_variant,,ENST00000557742,;MCTP2,intron_variant,,ENST00000357742,;MCTP2,intron_variant,,ENST00000451018,;MCTP2,downstream_gene_variant,,ENST00000331706,;MCTP2,intron_variant,,ENST00000456504,;MCTP2,downstream_gene_variant,,ENST00000557505,;	.	25	17	SUCCESS
SYNM	23336	.	GRCh37	15	99672017	99672017	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	48	0	ENST00000336292.6:c.3449A>T	p.Glu1150Val	p.E1150V	ENST00000336292	NM_145728.2	1150	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	.	3449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGAGGTAA	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	.	.	ENSP00000336775	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000336292	Transcript	.	.	ENSG00000182253	24466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SYNEM_HUMAN	SYNM	HGNC	.	.	UPI00001B03B3	SNV	SYNM,missense_variant,p.Glu1150Val,ENST00000328642,;SYNM,missense_variant,p.Glu1150Val,ENST00000336292,;SYNM,missense_variant,p.Glu865Val,ENST00000560674,;TTC23,downstream_gene_variant,,ENST00000262074,;TTC23,downstream_gene_variant,,ENST00000394132,;TTC23,downstream_gene_variant,,ENST00000558613,;TTC23,downstream_gene_variant,,ENST00000394136,;RP11-6O2.4,upstream_gene_variant,,ENST00000566974,;SYNM,splice_region_variant,,ENST00000558420,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,intron_variant,,ENST00000561306,;TTC23,downstream_gene_variant,,ENST00000494567,;TTC23,downstream_gene_variant,,ENST00000459771,;	3569	48	36	SUCCESS
DOC2A	8448	.	GRCh37	16	30018203	30018203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	50	100	0	ENST00000350119.4:c.781T>A	p.Tyr261Asn	p.Y261N	ENST00000350119	NM_003586.2	261	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS10666.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTAGCTGA	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00399,Superfamily_domains:SSF49562,PIRSF_domain:PIRSF036931,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF204,hmmpanther:PTHR10024	.	.	ENSP00000340017	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000350119	Transcript	.	.	ENSG00000149927	2985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	DOC2A_HUMAN	DOC2A	HGNC	H3BU41_HUMAN,H3BSH4_HUMAN,H3BNF7_HUMAN	.	UPI000013DBC8	SNV	DOC2A,missense_variant,p.Tyr261Asn,ENST00000564979,;DOC2A,missense_variant,p.Tyr261Asn,ENST00000350119,;DOC2A,missense_variant,p.Tyr261Asn,ENST00000564944,;DOC2A,missense_variant,p.Tyr98Asn,ENST00000564357,;DOC2A,downstream_gene_variant,,ENST00000563125,;INO80E,downstream_gene_variant,,ENST00000562291,;INO80E,downstream_gene_variant,,ENST00000563197,;INO80E,downstream_gene_variant,,ENST00000304516,;INO80E,downstream_gene_variant,,ENST00000567705,;DOC2A,downstream_gene_variant,,ENST00000565273,;DOC2A,downstream_gene_variant,,ENST00000563378,;DOC2A,downstream_gene_variant,,ENST00000567332,;DOC2A,downstream_gene_variant,,ENST00000574405,;DOC2A,downstream_gene_variant,,ENST00000570194,;DOC2A,missense_variant,p.Tyr143Asn,ENST00000566310,;DOC2A,3_prime_UTR_variant,,ENST00000561671,;DOC2A,non_coding_transcript_exon_variant,,ENST00000564233,;DOC2A,downstream_gene_variant,,ENST00000566456,;INO80E,downstream_gene_variant,,ENST00000567987,;INO80E,downstream_gene_variant,,ENST00000569957,;INO80E,downstream_gene_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000567065,;INO80E,downstream_gene_variant,,ENST00000562441,;	972	100	88	SUCCESS
ITGAD	3681	.	GRCh37	16	31429500	31429500	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	68	0	ENST00000389202.2:c.2604T>A	p.His868Gln	p.H868Q	ENST00000389202	NM_005353.2	868	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS32438.1	2604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGAGGG	NONE	.	.	Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	.	.	ENSP00000373854	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.26)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.His868Gln,ENST00000389202,;	2653	68	90	SUCCESS
TMEM208	29100	.	GRCh37	16	67262306	67262306	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	58	1	ENST00000304800.9:c.151T>A	p.Phe51Ile	p.F51I	ENST00000304800	NM_014187.3	51	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS45511.1	151	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTCATTTTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13505:SF7,hmmpanther:PTHR13505,Pfam_domain:PF05620	.	.	ENSP00000305892	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000304800	Transcript	.	.	ENSG00000168701	25015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.72)	.	TM208_HUMAN	TMEM208	HGNC	J3KRY7_HUMAN	.	UPI000006D32F	SNV	TMEM208,missense_variant,p.Phe51Ile,ENST00000304800,;TMEM208,missense_variant,p.Phe51Ile,ENST00000565201,;TMEM208,5_prime_UTR_variant,,ENST00000563953,;FHOD1,downstream_gene_variant,,ENST00000258201,;LRRC29,upstream_gene_variant,,ENST00000433915,;LRRC29,upstream_gene_variant,,ENST00000393992,;LRRC29,upstream_gene_variant,,ENST00000409509,;LRRC29,upstream_gene_variant,,ENST00000447579,;LRRC29,upstream_gene_variant,,ENST00000424285,;AC040160.1,upstream_gene_variant,,ENST00000454102,;LRRC29,upstream_gene_variant,,ENST00000341546,;TMEM208,upstream_gene_variant,,ENST00000563426,;LRRC29,upstream_gene_variant,,ENST00000485549,;LRRC29,upstream_gene_variant,,ENST00000462169,;TMEM208,missense_variant,p.Phe51Ile,ENST00000562235,;TMEM208,3_prime_UTR_variant,,ENST00000564087,;TMEM208,non_coding_transcript_exon_variant,,ENST00000563168,;TMEM208,non_coding_transcript_exon_variant,,ENST00000567193,;TMEM208,non_coding_transcript_exon_variant,,ENST00000561586,;FHOD1,downstream_gene_variant,,ENST00000567561,;TMEM208,upstream_gene_variant,,ENST00000564649,;FHOD1,downstream_gene_variant,,ENST00000567509,;FHOD1,downstream_gene_variant,,ENST00000567752,;TMEM208,downstream_gene_variant,,ENST00000566486,;FHOD1,downstream_gene_variant,,ENST00000566006,;FHOD1,downstream_gene_variant,,ENST00000569888,;TMEM208,upstream_gene_variant,,ENST00000563271,;FHOD1,downstream_gene_variant,,ENST00000569085,;	257	59	58	SUCCESS
CHST5	23563	.	GRCh37	16	75564437	75564437	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	86	0	ENST00000336257.3:c.-155T>A		p.*52*	ENST00000336257	NM_024533.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10919.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGCAGA	NONE	.	.	.	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,5_prime_UTR_variant,,ENST00000336257,;CHST5,intron_variant,,ENST00000565039,;CHST5,intron_variant,,ENST00000541075,;RP11-77K12.7,intron_variant,,ENST00000460606,;	1241	86	93	SUCCESS
CHST5	23563	.	GRCh37	16	75564757	75564757	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	67	121	1	ENST00000336257.3:c.-475C>T		p.*159*	ENST00000336257	NM_024533.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10919.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCGTGTGT	NONE	.	.	.	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,5_prime_UTR_variant,,ENST00000336257,;CHST5,intron_variant,,ENST00000565039,;CHST5,intron_variant,,ENST00000541075,;RP11-77K12.7,intron_variant,,ENST00000460606,;	921	122	122	SUCCESS
ADAT1	23536	.	GRCh37	16	75642206	75642206	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	57	0	ENST00000307921.3:c.1205C>T	p.Ala402Val	p.A402V	ENST00000307921	NM_012091.3	402	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10922.1	1205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTGCACTC	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000310015	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000307921	Transcript	.	.	ENSG00000065457	228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ADAT1_HUMAN	ADAT1	HGNC	H3BU72_HUMAN,H3BP18_HUMAN	.	UPI000006FD70	SNV	ADAT1,missense_variant,p.Ala402Val,ENST00000307921,;ADAT1,missense_variant,p.Ala44Val,ENST00000566450,;ADAT1,downstream_gene_variant,,ENST00000567281,;RP11-77K12.8,non_coding_transcript_exon_variant,,ENST00000564489,;ADAT1,3_prime_UTR_variant,,ENST00000566445,;ADAT1,downstream_gene_variant,,ENST00000568001,;	1351	57	72	SUCCESS
MSLNL	401827	.	GRCh37	16	823297	823297	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	64	0	ENST00000442466.1:c.918C>A		p.X306_splice	ENST00000442466		306	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	.	1971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTGCCTCA	NONE	.	.	hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15,Pfam_domain:PF06060	.	.	ENSP00000293892	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000293892	Transcript	.	.	ENSG00000162006	14170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSLNL_HUMAN	MSLNL	HGNC	.	.	UPI0000072242	SNV	MSLNL,synonymous_variant,p.%3D,ENST00000442466,;MSLNL,synonymous_variant,p.%3D,ENST00000543963,;MSLNL,synonymous_variant,p.%3D,ENST00000293892,;MSLN,downstream_gene_variant,,ENST00000382862,;MSLN,downstream_gene_variant,,ENST00000566269,;MSLN,downstream_gene_variant,,ENST00000561896,;MSLN,downstream_gene_variant,,ENST00000566549,;MSLN,downstream_gene_variant,,ENST00000563941,;MSLN,downstream_gene_variant,,ENST00000545450,;MIR662,downstream_gene_variant,,ENST00000384847,;MSLNL,downstream_gene_variant,,ENST00000537221,;	1971	64	73	SUCCESS
MYH4	4622	.	GRCh37	17	10348322	10348322	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	51	84	0	ENST00000255381.2:c.5437A>C	p.Lys1813Gln	p.K1813Q	ENST00000255381	NM_017533.2	1813	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS11154.1	5437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCCCAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000255381	.	37/40	.	.	.	.	.	.	.	.	.	37/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Lys1813Gln,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5548	84	67	SUCCESS
MYOCD	93649	.	GRCh37	17	12569544	12569544	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	36	71	0	ENST00000343344.4:c.39G>T	p.Arg13Ser	p.R13S	ENST00000343344		13	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS54091.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGGAGCAA	NONE	.	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	deleterious(0.01)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Arg13Ser,ENST00000343344,;MYOCD,missense_variant,p.Arg13Ser,ENST00000425538,;MYOCD,missense_variant,p.Arg13Ser,ENST00000579237,;	239	71	43	SUCCESS
AC015849.16	0	.	GRCh37	17	34235812	34235812	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	49	0	ENST00000587132.1:n.2216C>T		p.*739*	ENST00000587132				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGAGTTC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000587132	Transcript	.	.	ENSG00000266999	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC015849.16	Clone_based_vega_gene	.	.	.	SNV	AC015849.16,non_coding_transcript_exon_variant,,ENST00000587132,;AC015849.16,upstream_gene_variant,,ENST00000587668,;LRRC37A9P,downstream_gene_variant,,ENST00000586565,;	2216	49	48	SUCCESS
RAPGEFL1	51195	.	GRCh37	17	38348509	38348509	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	64	0	ENST00000436615.3:c.1032C>T	p.Asn344=	p.N344=	ENST00000436615	NM_016339.3	344	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS11363.1	1032	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAACCTGAC	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF190,hmmpanther:PTHR23113,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000408322	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000436615	Transcript	.	.	ENSG00000108352	17428	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPGFL_HUMAN	RAPGEFL1	HGNC	F5GYJ3_HUMAN,F5GY17_HUMAN,F5GXC6_HUMAN	.	UPI000006DB6B	SNV	RAPGEFL1,synonymous_variant,p.%3D,ENST00000436615,;RAPGEFL1,synonymous_variant,p.%3D,ENST00000456989,;RAPGEFL1,synonymous_variant,p.%3D,ENST00000544503,;RAPGEFL1,synonymous_variant,p.%3D,ENST00000264644,;RAPGEFL1,downstream_gene_variant,,ENST00000538981,;RAPGEFL1,downstream_gene_variant,,ENST00000543876,;RAPGEFL1,downstream_gene_variant,,ENST00000540388,;RAPGEFL1,non_coding_transcript_exon_variant,,ENST00000496032,;RAPGEFL1,non_coding_transcript_exon_variant,,ENST00000545893,;RAPGEFL1,downstream_gene_variant,,ENST00000469209,;	1522	64	37	SUCCESS
KRT12	3859	.	GRCh37	17	39022937	39022937	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs377161982	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	97	0	ENST00000251643.4:c.502A>T	p.Thr168Ser	p.T168S	ENST00000251643	NM_000223.3	168	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS11378.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGTCCCAG	NONE	.	.	Pfam_domain:PF00038,Gene3D:1.20.1270.60,hmmpanther:PTHR23239:SF115,hmmpanther:PTHR23239	.	.	ENSP00000251643	.	1/8	.	.	.	.	.	.	.	.	rs377161982	1/8	PASS	ENST00000251643	Transcript	.	.	ENSG00000187242	6414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(1)	.	K1C12_HUMAN	KRT12	HGNC	.	.	UPI000012DAE4	SNV	KRT12,missense_variant,p.Thr168Ser,ENST00000251643,;RP5-1110E20.1,downstream_gene_variant,,ENST00000579136,;	526	97	91	SUCCESS
KCNH4	23415	.	GRCh37	17	40330402	40330402	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	108	0	ENST00000264661.3:c.404A>T	p.Gln135Leu	p.Q135L	ENST00000264661	NM_012285.2	135	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11420.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTGAGTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50113,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378,Gene3D:3.30.450.20,Pfam_domain:PF13426,TIGRFAM_domain:TIGR00229,SMART_domains:SM00086,Superfamily_domains:SSF55785	.	.	ENSP00000264661	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000264661	Transcript	.	.	ENSG00000089558	6253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	deleterious(0.02)	.	KCNH4_HUMAN	KCNH4	HGNC	.	.	UPI000012DCA8	SNV	KCNH4,missense_variant,p.Gln135Leu,ENST00000264661,;KCNH4,missense_variant,p.Gln135Leu,ENST00000607371,;	737	108	86	SUCCESS
ARRB2	409	.	GRCh37	17	4619957	4619957	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	28	0	ENST00000269260.2:c.357+54T>G		p.*119*	ENST00000269260	NM_001257328.1	137		0	.	.	.	.	.	G	S	protein_coding	YES	CCDS58504.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCTGGGGT	NONE	.	.	Superfamily_domains:SSF81296,Gene3D:1g4mA01,hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF20	.	.	ENSP00000403701	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000412477	Transcript	.	.	ENSG00000141480	712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARRB2_HUMAN	ARRB2	HGNC	Q68DZ5_HUMAN,K7EL17_HUMAN	.	UPI0001AE6690	SNV	ARRB2,synonymous_variant,p.%3D,ENST00000412477,;ARRB2,intron_variant,,ENST00000571206,;ARRB2,intron_variant,,ENST00000269260,;ARRB2,intron_variant,,ENST00000575877,;ARRB2,intron_variant,,ENST00000574954,;ARRB2,intron_variant,,ENST00000381488,;ARRB2,intron_variant,,ENST00000346341,;ARRB2,intron_variant,,ENST00000572457,;ARRB2,intron_variant,,ENST00000571428,;ARRB2,intron_variant,,ENST00000570739,;ARRB2,downstream_gene_variant,,ENST00000570718,;ARRB2,non_coding_transcript_exon_variant,,ENST00000571791,;ARRB2,intron_variant,,ENST00000574502,;ARRB2,intron_variant,,ENST00000575131,;ARRB2,intron_variant,,ENST00000573886,;ARRB2,intron_variant,,ENST00000576235,;ARRB2,upstream_gene_variant,,ENST00000577054,;ARRB2,downstream_gene_variant,,ENST00000572782,;ARRB2,downstream_gene_variant,,ENST00000572497,;ARRB2,downstream_gene_variant,,ENST00000574888,;	440	28	22	SUCCESS
SAMD14	201191	.	GRCh37	17	48193205	48193205	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	50	0	ENST00000330175.4:c.651C>A	p.Ser217=	p.S217=	ENST00000330175	NM_001257359.1	217	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11560.1	651	MUTECT|MUSE	.	CCCATGGACAG	NONE	.	.	hmmpanther:PTHR16154	.	.	ENSP00000424474	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000503131	Transcript	.	.	ENSG00000167100	27312	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAM14_HUMAN	SAMD14	HGNC	.	.	UPI0000074135	SNV	SAMD14,synonymous_variant,p.%3D,ENST00000503131,;SAMD14,synonymous_variant,p.%3D,ENST00000285206,;SAMD14,synonymous_variant,p.%3D,ENST00000330175,;PDK2,downstream_gene_variant,,ENST00000503176,;PDK2,downstream_gene_variant,,ENST00000007708,;SAMD14,downstream_gene_variant,,ENST00000503734,;SAMD14,non_coding_transcript_exon_variant,,ENST00000515816,;SAMD14,non_coding_transcript_exon_variant,,ENST00000508892,;SAMD14,downstream_gene_variant,,ENST00000507043,;SAMD14,upstream_gene_variant,,ENST00000573376,;	1029	50	47	SUCCESS
MIR454	768216	.	GRCh37	17	57215132	57215132	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs780831746	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	140	76	0	ENST00000390180.1:n.102G>T		p.*34*	ENST00000390180				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTCTTTCC	NONE	.	.	.	.	.	ENSP00000333433	.	.	.	.	.	.	.	.	.	.	rs780831746	.	PASS	ENST00000330137	Transcript	.	.	ENSG00000182628	28006	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKA2_HUMAN	SKA2	HGNC	J3QL03_HUMAN	.	UPI0000070DA6	SNV	SKA2,intron_variant,,ENST00000580541,;SKA2,intron_variant,,ENST00000437036,;SKA2,intron_variant,,ENST00000583380,;SKA2,intron_variant,,ENST00000584089,;SKA2,intron_variant,,ENST00000581068,;SKA2,intron_variant,,ENST00000330137,;SKA2,intron_variant,,ENST00000578105,;MIR454,non_coding_transcript_exon_variant,,ENST00000390180,;SKA2,intron_variant,,ENST00000583927,;SKA2,intron_variant,,ENST00000578519,;SKA2,intron_variant,,ENST00000583976,;	.	76	170	SUCCESS
TRIM47	91107	.	GRCh37	17	73871178	73871178	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748897915	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	11	38	0	ENST00000254816.2:c.1303G>A	p.Asp435Asn	p.D435N	ENST00000254816	NM_033452.2	435	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32737.1	1303	MUTECT|MUSE|VARSCANS	.	TGTGTCGCTGT	NONE	byFrequency	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF244,Superfamily_domains:SSF49899	.	.	ENSP00000254816	.	6/6	.	.	.	.	.	.	.	.	rs748897915	6/6	PASS	ENST00000254816	Transcript	.	.	ENSG00000132481	19020	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	tolerated(0.3)	.	TRI47_HUMAN	TRIM47	HGNC	Q96AD0_HUMAN,K7EJ63_HUMAN	.	UPI000013CE62	SNV	TRIM47,missense_variant,p.Asp197Asn,ENST00000587339,;TRIM47,missense_variant,p.Asp435Asn,ENST00000254816,;TRIM47,downstream_gene_variant,,ENST00000586495,;TRIM47,upstream_gene_variant,,ENST00000585333,;RP11-552F3.9,upstream_gene_variant,,ENST00000586076,;TRIM47,non_coding_transcript_exon_variant,,ENST00000592942,;TRIM47,downstream_gene_variant,,ENST00000593089,;TRIM47,downstream_gene_variant,,ENST00000587774,;	1330	38	131	SUCCESS
QRICH2	84074	.	GRCh37	17	74288478	74288478	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	10	72	0	ENST00000262765.5:c.1832A>G	p.Asp611Gly	p.D611G	ENST00000262765	NM_032134.1	611	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS32741.1	1832	MUTECT|MUSE	.	GCTGATCCACT	NONE	.	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78	.	.	ENSP00000262765	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000262765	Transcript	.	.	ENSG00000129646	25326	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.76)	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,missense_variant,p.Asp611Gly,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;	2012	72	129	SUCCESS
DNAH2	146754	.	GRCh37	17	7643760	7643760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	46	100	0	ENST00000389173.2:c.1399C>A	p.Leu467Met	p.L467M	ENST00000389173	NM_020877.2	467	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS32551.1	1399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCTGGAG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF08385	.	.	ENSP00000458355	.	10/86	.	.	.	.	.	.	.	.	.	10/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Leu549Met,ENST00000082259,;DNAH2,missense_variant,p.Leu467Met,ENST00000389173,;DNAH2,missense_variant,p.Leu549Met,ENST00000570791,;DNAH2,missense_variant,p.Leu467Met,ENST00000572933,;DNAH2,upstream_gene_variant,,ENST00000575498,;	2859	100	56	SUCCESS
ALOX12B	242	.	GRCh37	17	7983423	7983423	+	intron_variant	Intron	SNP	A	A	C	rs764115404	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	72	0	ENST00000319144.4:c.754+130T>G		p.*252*	ENST00000319144	NM_001139.2	35		0	.	.	.	.	.	C	K/T	protein_coding	YES	.	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAAGAAGC	NONE	.	.	.	.	.	ENSP00000382345	.	2/2	.	.	.	.	.	.	.	.	rs764115404	2/2	PASS	ENST00000399413	Transcript	.	.	ENSG00000214999	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	YQ037_HUMAN	AC129492.6	Clone_based_vega_gene	.	.	UPI0000D4AA7B	SNV	AC129492.6,missense_variant,p.Lys35Thr,ENST00000399413,;ALOX12B,intron_variant,,ENST00000319144,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000584116,;ALOX12B,upstream_gene_variant,,ENST00000583276,;	344	72	54	SUCCESS
RAC3	5881	.	GRCh37	17	79991460	79991460	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	333	15	72	0	ENST00000306897.4:c.433A>T	p.Met145Leu	p.M145L	ENST00000306897	NM_005052.2	145	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS11798.1	433	MUTECT|MUSE	.	TGGCCATGGCC	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF107,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000304283	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000306897	Transcript	.	.	ENSG00000169750	9803	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated_low_confidence(1)	.	RAC3_HUMAN	RAC3	HGNC	J3QLK0_HUMAN,J3KSC4_HUMAN	.	UPI00000041DA	SNV	RAC3,missense_variant,p.Met145Leu,ENST00000306897,;RAC3,missense_variant,p.Met101Leu,ENST00000580965,;RAC3,missense_variant,p.Met101Leu,ENST00000584341,;DCXR,downstream_gene_variant,,ENST00000579004,;DCXR,downstream_gene_variant,,ENST00000582900,;DCXR,downstream_gene_variant,,ENST00000579155,;DCXR,downstream_gene_variant,,ENST00000577712,;DCXR,downstream_gene_variant,,ENST00000581584,;LRRC45,downstream_gene_variant,,ENST00000306688,;DCXR,downstream_gene_variant,,ENST00000306869,;DCXR,downstream_gene_variant,,ENST00000577532,;RP13-650J16.1,upstream_gene_variant,,ENST00000584705,;RP13-650J16.1,upstream_gene_variant,,ENST00000582558,;DCXR,downstream_gene_variant,,ENST00000584318,;DCXR,downstream_gene_variant,,ENST00000577996,;RAC3,non_coding_transcript_exon_variant,,ENST00000585014,;DCXR,downstream_gene_variant,,ENST00000578273,;DCXR,downstream_gene_variant,,ENST00000585164,;DCXR,downstream_gene_variant,,ENST00000577286,;LRRC45,downstream_gene_variant,,ENST00000583302,;DCXR,downstream_gene_variant,,ENST00000580320,;DCXR,downstream_gene_variant,,ENST00000585085,;LRRC45,downstream_gene_variant,,ENST00000582083,;DCXR,downstream_gene_variant,,ENST00000579334,;DCXR,downstream_gene_variant,,ENST00000580750,;DCXR,downstream_gene_variant,,ENST00000582074,;DCXR,downstream_gene_variant,,ENST00000578885,;DCXR,downstream_gene_variant,,ENST00000582613,;DCXR,downstream_gene_variant,,ENST00000579821,;DCXR,downstream_gene_variant,,ENST00000579842,;LRRC45,downstream_gene_variant,,ENST00000581227,;	571	72	349	SUCCESS
TUBB6	84617	.	GRCh37	18	12310993	12310993	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	71	0	ENST00000317702.5:c.218T>A	p.Met73Lys	p.M73K	ENST00000317702		73	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS11858.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATGGACA	NONE	.	.	Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF88,hmmpanther:PTHR11588	.	.	ENSP00000318697	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000317702	Transcript	.	.	ENSG00000176014	20776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious_low_confidence(0.01)	.	TBB6_HUMAN	TUBB6	HGNC	K7ES63_HUMAN,K7EL29_HUMAN,B4E386_HUMAN,B3KS31_HUMAN	.	UPI0000072BFF	SNV	TUBB6,start_lost,p.Met1?,ENST00000591463,;TUBB6,missense_variant,p.Met73Lys,ENST00000592683,;TUBB6,missense_variant,p.Met73Lys,ENST00000586653,;TUBB6,missense_variant,p.Met73Lys,ENST00000590967,;TUBB6,missense_variant,p.Met73Lys,ENST00000591208,;TUBB6,missense_variant,p.Met73Lys,ENST00000590693,;TUBB6,missense_variant,p.Met73Lys,ENST00000591909,;TUBB6,missense_variant,p.Met10Lys,ENST00000586691,;TUBB6,missense_variant,p.Met73Lys,ENST00000317702,;TUBB6,intron_variant,,ENST00000590103,;TUBB6,missense_variant,p.Met73Lys,ENST00000586810,;TUBB6,missense_variant,p.Met73Lys,ENST00000590388,;TUBB6,non_coding_transcript_exon_variant,,ENST00000417736,;TUBB6,non_coding_transcript_exon_variant,,ENST00000587204,;	452	71	87	SUCCESS
LAMA3	3909	.	GRCh37	18	21474874	21474874	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	35	0	ENST00000313654.9:c.5465G>A	p.Cys1822Tyr	p.C1822Y	ENST00000313654	NM_198129.1	1822	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS42419.1	5465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGCGACA	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	44/75	.	.	.	.	.	.	.	.	.	44/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Cys1822Tyr,ENST00000313654,;LAMA3,missense_variant,p.Cys213Tyr,ENST00000587184,;LAMA3,missense_variant,p.Cys82Tyr,ENST00000586751,;LAMA3,missense_variant,p.Cys213Tyr,ENST00000269217,;LAMA3,missense_variant,p.Cys1822Tyr,ENST00000399516,;AC010754.1,upstream_gene_variant,,ENST00000408462,;LAMA3,upstream_gene_variant,,ENST00000588770,;LAMA3,upstream_gene_variant,,ENST00000586709,;	5706	35	47	SUCCESS
KIAA1328	57536	.	GRCh37	18	34752988	34752988	+	synonymous_variant	Silent	SNP	A	A	C	rs771696427	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	80	0	ENST00000280020.5:c.1467A>C	p.Gly489=	p.G489=	ENST00000280020	NM_020776.1	489	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS45855.1	1467	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGAAGCCT	NONE	byFrequency	.	.	.	.	ENSP00000280020	.	9/10	.	.	.	.	.	.	.	.	rs771696427	9/10	PASS	ENST00000280020	Transcript	.	.	ENSG00000150477	29248	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1328_HUMAN	KIAA1328	HGNC	.	.	UPI00001C1FF0	SNV	KIAA1328,synonymous_variant,p.%3D,ENST00000543923,;KIAA1328,synonymous_variant,p.%3D,ENST00000435985,;KIAA1328,synonymous_variant,p.%3D,ENST00000587139,;KIAA1328,synonymous_variant,p.%3D,ENST00000586135,;KIAA1328,synonymous_variant,p.%3D,ENST00000591619,;KIAA1328,synonymous_variant,p.%3D,ENST00000280020,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;	1489	80	83	SUCCESS
PHLPP1	23239	.	GRCh37	18	60642658	60642658	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759420494	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	53	0	ENST00000262719.5:c.3784G>A	p.Gly1262Ser	p.G1262S	ENST00000262719		1262	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS45881.2	3784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGGTGGT	NONE	.	.	Superfamily_domains:SSF81606,SMART_domains:SM00332,Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR23155:SF252,hmmpanther:PTHR23155	.	.	ENSP00000262719	.	16/17	.	.	.	.	.	.	.	.	rs759420494	16/17	PASS	ENST00000262719	Transcript	.	.	ENSG00000081913	20610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PHLP1_HUMAN	PHLPP1	HGNC	.	.	UPI000051AE2E	SNV	PHLPP1,missense_variant,p.Gly750Ser,ENST00000400316,;PHLPP1,missense_variant,p.Gly1262Ser,ENST00000262719,;	4018	53	76	SUCCESS
SERPINB13	5275	.	GRCh37	18	61256029	61256029	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	25	38	0	ENST00000344731.5:c.128T>A	p.Leu43Gln	p.L43Q	ENST00000344731	NM_012397.3	43	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11985.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11461:SF152,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000341584	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	deleterious(0)	.	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,missense_variant,p.Leu73Gln,ENST00000431153,;SERPINB13,missense_variant,p.Leu22Gln,ENST00000415733,;SERPINB13,missense_variant,p.Leu43Gln,ENST00000344731,;SERPINB13,missense_variant,p.Leu43Gln,ENST00000269489,;SERPINB13,missense_variant,p.Leu43Gln,ENST00000438844,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;	230	38	44	SUCCESS
CDH7	1005	.	GRCh37	18	63430007	63430007	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	12	0	ENST00000323011.3:c.-72G>A		p.*24*	ENST00000323011	NM_033646.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11993.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTAAGCCAAC	NONE	.	.	.	.	.	ENSP00000381058	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,5_prime_UTR_variant,,ENST00000397968,;CDH7,5_prime_UTR_variant,,ENST00000536984,;CDH7,5_prime_UTR_variant,,ENST00000323011,;CDH7,upstream_gene_variant,,ENST00000581601,;	355	12	28	SUCCESS
RTTN	25914	.	GRCh37	18	67671402	67671402	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	63	0	ENST00000255674.6:c.6666C>A	p.Leu2222=	p.L2222=	ENST00000255674	NM_173630.3	2222	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42443.1	6666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGGAGCTG	NONE	.	.	hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	.	.	ENSP00000255674	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,missense_variant,p.Pro184Thr,ENST00000578780,;RTTN,synonymous_variant,p.%3D,ENST00000255674,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;RTTN,downstream_gene_variant,,ENST00000580034,;	6953	63	61	SUCCESS
C19orf26	0	.	GRCh37	19	1233486	1233486	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	100	0	ENST00000382477.2:c.978T>C	p.Tyr326=	p.Y326=	ENST00000382477		326	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS12057.2	918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAATAGGG	NONE	.	.	.	.	.	ENSP00000465260	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000590083	Transcript	.	.	ENSG00000099625	28617	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C19orf26	HGNC	K7EJP2_HUMAN	.	UPI000059D617	SNV	C19orf26,synonymous_variant,p.%3D,ENST00000382477,;C19orf26,synonymous_variant,p.%3D,ENST00000215376,;C19orf26,synonymous_variant,p.%3D,ENST00000590083,;AC004221.2,upstream_gene_variant,,ENST00000592843,;C19orf26,3_prime_UTR_variant,,ENST00000591127,;C19orf26,downstream_gene_variant,,ENST00000589260,;	1211	100	140	SUCCESS
HOOK2	29911	.	GRCh37	19	12881835	12881835	+	synonymous_variant	Silent	SNP	C	C	T	rs371375548	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	91	0	ENST00000397668.3:c.813G>A	p.Arg271=	p.R271=	ENST00000397668	NM_013312.2	271	agG/agA	0	.	T:0	.	T:0	.	T	R	protein_coding	YES	CCDS42508.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCCTCTC	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,Pfam_domain:PF05622	T:0.001	.	ENSP00000380785	T:0	10/23	.	.	.	.	.	.	.	.	rs371375548	10/23	PASS	ENST00000397668	Transcript	.	T:0.0002	ENSG00000095066	19885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	HOOK2_HUMAN	HOOK2	HGNC	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN	.	UPI00003D0BC0	SNV	HOOK2,synonymous_variant,p.%3D,ENST00000589400,;HOOK2,synonymous_variant,p.%3D,ENST00000592079,;HOOK2,synonymous_variant,p.%3D,ENST00000397668,;HOOK2,synonymous_variant,p.%3D,ENST00000264827,;HOOK2,downstream_gene_variant,,ENST00000588052,;HOOK2,downstream_gene_variant,,ENST00000587178,;HOOK2,downstream_gene_variant,,ENST00000587964,;HOOK2,downstream_gene_variant,,ENST00000590839,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,downstream_gene_variant,,ENST00000589765,;HOOK2,intron_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000589398,;HOOK2,downstream_gene_variant,,ENST00000586719,;HOOK2,downstream_gene_variant,,ENST00000592512,;HOOK2,downstream_gene_variant,,ENST00000586284,;HOOK2,upstream_gene_variant,,ENST00000591839,;HOOK2,upstream_gene_variant,,ENST00000592259,;HOOK2,downstream_gene_variant,,ENST00000589134,;HOOK2,downstream_gene_variant,,ENST00000591251,;HOOK2,downstream_gene_variant,,ENST00000592808,;HOOK2,downstream_gene_variant,,ENST00000591641,;HOOK2,downstream_gene_variant,,ENST00000593143,;	887	91	90	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13936403	13936403	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	48	0	ENST00000254323.2:c.1904A>C	p.Gln635Pro	p.Q635P	ENST00000254323	NM_023072.2	635	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS32924.1	1904	RADIA|MUTECT|MUSE	.	CATCCAGCAGA	NONE	.	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0.02)	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,missense_variant,p.Gln97Pro,ENST00000592227,;ZSWIM4,missense_variant,p.Gln635Pro,ENST00000254323,;ZSWIM4,missense_variant,p.Gln469Pro,ENST00000440752,;ZSWIM4,missense_variant,p.Gln544Pro,ENST00000590508,;	2093	48	58	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13936406	13936406	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	47	0	ENST00000254323.2:c.1907A>C	p.Gln636Pro	p.Q636P	ENST00000254323	NM_023072.2	636	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS32924.1	1907	RADIA|MUTECT|MUSE	.	CCAGCAGAACA	NONE	.	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0.02)	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,missense_variant,p.Gln98Pro,ENST00000592227,;ZSWIM4,missense_variant,p.Gln636Pro,ENST00000254323,;ZSWIM4,missense_variant,p.Gln470Pro,ENST00000440752,;ZSWIM4,missense_variant,p.Gln545Pro,ENST00000590508,;	2096	47	58	SUCCESS
NANOS3	342977	.	GRCh37	19	13988410	13988410	+	synonymous_variant	Silent	SNP	C	C	A	rs535775641	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	26	0	ENST00000397555.2:c.291C>A	p.Gly97=	p.G97=	ENST00000397555	NM_001098622.2	97	ggC/ggA	0	.	T:0.0023	.	T:0	.	A	G	protein_coding	YES	CCDS42511.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGCGCCAC	NONE	byFrequency|by1000G	.	Pfam_domain:PF05741,hmmpanther:PTHR12887:SF3,hmmpanther:PTHR12887,PROSITE_profiles:PS51522	T:0	.	ENSP00000341992	T:0	1/2	.	.	.	.	.	.	.	.	rs535775641	1/2	PASS	ENST00000339133	Transcript	.	T:0.0006	ENSG00000187556	22048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NANO3_HUMAN	NANOS3	HGNC	.	.	UPI0000366D46	SNV	NANOS3,synonymous_variant,p.%3D,ENST00000339133,;NANOS3,synonymous_variant,p.%3D,ENST00000397555,;C19orf57,downstream_gene_variant,,ENST00000454313,;C19orf57,downstream_gene_variant,,ENST00000586783,;C19orf57,downstream_gene_variant,,ENST00000591586,;C19orf57,downstream_gene_variant,,ENST00000588115,;C19orf57,downstream_gene_variant,,ENST00000346736,;MIR181D,downstream_gene_variant,,ENST00000384853,;MIR181C,downstream_gene_variant,,ENST00000384881,;NANOS3,intron_variant,,ENST00000591727,;NANOS3,intron_variant,,ENST00000591161,;	350	26	41	SUCCESS
COX7A1	1346	.	GRCh37	19	36643418	36643418	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	29	0	ENST00000292907.3:c.-109T>A		p.*37*	ENST00000292907	NM_001864.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACAGCTGG	NONE	.	.	.	.	.	ENSP00000292907	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000292907	Transcript	.	.	ENSG00000161281	2287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX7A1_HUMAN	COX7A1	HGNC	U3KQH8_HUMAN,Q6FGI7_HUMAN,H6SG12_HUMAN	.	UPI0000048D61	SNV	COX7A1,5_prime_UTR_variant,,ENST00000292907,;CAPNS1,downstream_gene_variant,,ENST00000588815,;CAPNS1,downstream_gene_variant,,ENST00000587718,;CAPNS1,downstream_gene_variant,,ENST00000588780,;CAPNS1,downstream_gene_variant,,ENST00000590211,;CAPNS1,downstream_gene_variant,,ENST00000246533,;COX7A1,upstream_gene_variant,,ENST00000437291,;CAPNS1,downstream_gene_variant,,ENST00000590874,;COX7A1,upstream_gene_variant,,ENST00000589154,;CAPNS1,downstream_gene_variant,,ENST00000586851,;CAPNS1,downstream_gene_variant,,ENST00000589146,;AD001527.7,upstream_gene_variant,,ENST00000604228,;CAPNS1,downstream_gene_variant,,ENST00000589162,;CAPNS1,downstream_gene_variant,,ENST00000590049,;COX7A1,upstream_gene_variant,,ENST00000481297,;	354	29	51	SUCCESS
ZNF383	163087	.	GRCh37	19	37733636	37733636	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	59	113	0	ENST00000352998.3:c.498A>T	p.Glu166Asp	p.E166D	ENST00000352998	NM_152604.1	166	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS12501.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAGACAG	NONE	.	.	hmmpanther:PTHR24377:SF172,hmmpanther:PTHR24377,Superfamily_domains:SSF57667	.	.	ENSP00000464871	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000589413	Transcript	.	.	ENSG00000188283	18609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.33)	.	ZN383_HUMAN	ZNF383	HGNC	K7EJN0_HUMAN,B3KRK0_HUMAN	.	UPI00000717CC	SNV	ZNF383,missense_variant,p.Glu166Asp,ENST00000589413,;ZNF383,missense_variant,p.Glu166Asp,ENST00000352998,;ZNF383,missense_variant,p.Glu166Asp,ENST00000590503,;ZNF383,downstream_gene_variant,,ENST00000588371,;ZNF383,3_prime_UTR_variant,,ENST00000588250,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;	1081	113	144	SUCCESS
CATSPERG	57828	.	GRCh37	19	38857882	38857882	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	21	0	ENST00000409235.3:c.2700C>G	p.Arg900=	p.R900=	ENST00000409235	NM_021185.4	900	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS12514.2	2700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGCCTGAA	NONE	.	.	hmmpanther:PTHR14327,Pfam_domain:PF15064	.	.	ENSP00000386962	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000409235	Transcript	.	.	ENSG00000099338	25243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTSRG_HUMAN	CATSPERG	HGNC	Q32MQ2_HUMAN	.	UPI000022A813	SNV	CATSPERG,synonymous_variant,p.%3D,ENST00000409235,;CATSPERG,synonymous_variant,p.%3D,ENST00000410018,;CATSPERG,3_prime_UTR_variant,,ENST00000215069,;AC005625.1,upstream_gene_variant,,ENST00000590304,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000312265,;CATSPERG,3_prime_UTR_variant,,ENST00000412458,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000492088,;	2815	21	44	SUCCESS
FCGBP	8857	.	GRCh37	19	40398324	40398324	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	82	0	ENST00000221347.6:c.6643A>T	p.Asn2215Tyr	p.N2215Y	ENST00000221347	NM_003890.2	2215	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS12546.1	6643	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTTGTAGT	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	14/36	.	.	.	.	.	.	.	.	.	14/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Asn2215Tyr,ENST00000221347,;FCGBP,intron_variant,,ENST00000601713,;	6651	82	96	SUCCESS
MARK4	57787	.	GRCh37	19	45783856	45783856	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	52	119	0	ENST00000262891.4:c.1140A>T	p.Pro380=	p.P380=	ENST00000262891	NM_001199867.1	380	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS56097.1	1140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCAGGGCT	NONE	.	.	hmmpanther:PTHR24346:SF22,hmmpanther:PTHR24346	.	.	ENSP00000262891	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000262891	Transcript	.	.	ENSG00000007047	13538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARK4_HUMAN	MARK4	HGNC	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN	.	UPI0000044D47	SNV	MARK4,synonymous_variant,p.%3D,ENST00000262891,;MARK4,synonymous_variant,p.%3D,ENST00000300843,;MARK4,3_prime_UTR_variant,,ENST00000592762,;MARK4,3_prime_UTR_variant,,ENST00000592207,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000590897,;	1471	119	147	SUCCESS
ZNF541	84215	.	GRCh37	19	48032254	48032254	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	38	41	0	ENST00000391901.3:c.3523A>T	p.Lys1175Ter	p.K1175*	ENST00000391901	NM_001277075.1	1175	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	.	3580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTTCTTAA	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000313258	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000314121	Transcript	.	.	ENSG00000118156	25294	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN541_HUMAN	ZNF541	HGNC	.	.	UPI0001837EA0	SNV	ZNF541,stop_gained,p.Lys1194Ter,ENST00000314121,;ZNF541,stop_gained,p.Lys695Ter,ENST00000595558,;ZNF541,stop_gained,p.Lys1175Ter,ENST00000391901,;ZNF541,intron_variant,,ENST00000263351,;ZNF541,intron_variant,,ENST00000448976,;ZNF541,downstream_gene_variant,,ENST00000487275,;	3580	41	56	SUCCESS
BSPH1	100131137	.	GRCh37	19	48480713	48480713	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	48	88	0	ENST00000344839.3:c.173A>T	p.Asp58Val	p.D58V	ENST00000344839	NM_001128326.2	58	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS46135.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTCATAA	NONE	.	.	PROSITE_profiles:PS51092,hmmpanther:PTHR22918,hmmpanther:PTHR22918:SF4,Pfam_domain:PF00040,Gene3D:2.10.10.10,SMART_domains:SM00059,Superfamily_domains:SSF57440	.	.	ENSP00000341762	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000344839	Transcript	.	.	ENSG00000188334	33906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	BSPH1_HUMAN	BSPH1	HGNC	.	.	UPI0000E2CEEE	SNV	BSPH1,missense_variant,p.Asp58Val,ENST00000344839,;	262	88	84	SUCCESS
ZNF880	400713	.	GRCh37	19	52877651	52877651	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	8	152	0	ENST00000422689.2:c.239G>T	p.Gly80Val	p.G80V	ENST00000422689	NM_001145434.1	80	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46164.1	239	MUTECT|MUSE	.	AGGTGGCAGGG	NONE	.	.	hmmpanther:PTHR24377:SF108,hmmpanther:PTHR24377	.	.	ENSP00000406318	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.391)	.	tolerated(0.14)	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,missense_variant,p.Gly80Val,ENST00000422689,;ZNF880,missense_variant,p.Gly80Val,ENST00000600321,;ZNF880,missense_variant,p.Gly80Val,ENST00000424032,;ZNF880,missense_variant,p.Gly80Val,ENST00000597976,;ZNF880,splice_region_variant,,ENST00000344085,;ZNF880,downstream_gene_variant,,ENST00000595099,;	254	152	187	SUCCESS
ZNF702P	79986	.	GRCh37	19	53472521	53472521	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	20	0	ENST00000270443.4:n.1973T>C		p.*658*	ENST00000270443				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACACTTGT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000598752,;ZNF702P,downstream_gene_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	1973	20	22	SUCCESS
NLRP2	55655	.	GRCh37	19	55495067	55495067	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	29	0	ENST00000448584.2:c.2001T>A	p.Thr667=	p.T667=	ENST00000448584	NM_001174083.1	667	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12913.1	2001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACTGCGTC	NONE	.	.	hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000445135	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,synonymous_variant,p.%3D,ENST00000537859,;NLRP2,synonymous_variant,p.%3D,ENST00000263437,;NLRP2,synonymous_variant,p.%3D,ENST00000391721,;NLRP2,synonymous_variant,p.%3D,ENST00000339757,;NLRP2,synonymous_variant,p.%3D,ENST00000543010,;NLRP2,synonymous_variant,p.%3D,ENST00000538819,;NLRP2,synonymous_variant,p.%3D,ENST00000448584,;NLRP2,synonymous_variant,p.%3D,ENST00000540005,;NLRP2,synonymous_variant,p.%3D,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	2144	29	21	SUCCESS
MUC16	94025	.	GRCh37	19	9087179	9087179	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	75	117	0	ENST00000397910.4:c.4636A>T	p.Ser1546Cys	p.S1546C	ENST00000397910	NM_024690.2	1546	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS54212.1	4636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACTGGTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser1546Cys,ENST00000397910,;	4840	117	147	SUCCESS
COL11A1	1301	.	GRCh37	1	103444281	103444281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	101	181	0	ENST00000370096.3:c.2737G>T	p.Gly913Cys	p.G913C	ENST00000370096	NM_001854.3	913	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS778.1	2737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCCAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	35/67	.	.	.	.	.	.	.	.	.	35/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly797Cys,ENST00000512756,;COL11A1,missense_variant,p.Gly874Cys,ENST00000353414,;COL11A1,missense_variant,p.Gly913Cys,ENST00000370096,;COL11A1,missense_variant,p.Gly925Cys,ENST00000358392,;	3050	181	182	SUCCESS
POGZ	23126	.	GRCh37	1	151378800	151378800	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	31	90	0	ENST00000271715.2:c.2711T>C	p.Leu904Ser	p.L904S	ENST00000271715	NM_015100.3	904	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS997.1	2711	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTAAGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19303:SF65,hmmpanther:PTHR19303	.	.	ENSP00000271715	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000271715	Transcript	.	.	ENSG00000143442	18801	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.54)	.	POGZ_HUMAN	POGZ	HGNC	F5H8H4_HUMAN,E9PJY9_HUMAN,E9PIR8_HUMAN	.	UPI000035895F	SNV	POGZ,missense_variant,p.Leu904Ser,ENST00000271715,;POGZ,missense_variant,p.Leu304Ser,ENST00000529669,;POGZ,missense_variant,p.Leu851Ser,ENST00000392723,;POGZ,missense_variant,p.Leu895Ser,ENST00000409503,;POGZ,missense_variant,p.Leu851Ser,ENST00000361398,;POGZ,missense_variant,p.Leu842Ser,ENST00000531094,;POGZ,missense_variant,p.Leu266Ser,ENST00000540984,;POGZ,missense_variant,p.Leu809Ser,ENST00000368863,;POGZ,missense_variant,p.Leu860Ser,ENST00000491586,;PSMB4,downstream_gene_variant,,ENST00000290541,;POGZ,non_coding_transcript_exon_variant,,ENST00000358476,;POGZ,downstream_gene_variant,,ENST00000497787,;POGZ,downstream_gene_variant,,ENST00000492528,;PSMB4,downstream_gene_variant,,ENST00000476467,;PSMB4,downstream_gene_variant,,ENST00000466425,;PSMB4,downstream_gene_variant,,ENST00000493673,;PSMB4,downstream_gene_variant,,ENST00000474100,;	3026	90	206	SUCCESS
LOR	0	.	GRCh37	1	153234128	153234128	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	10	0	ENST00000368742.3:c.703A>T	p.Ser235Cys	p.S235C	ENST00000368742	NM_000427.2	235	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS30870.1	703	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCAGCGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357731	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368742	Transcript	.	.	ENSG00000203782	6663	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	LORI_HUMAN	LOR	HGNC	Q6FHY3_HUMAN	.	UPI0000470BBD	SNV	LOR,missense_variant,p.Ser235Cys,ENST00000368742,;	760	10	17	SUCCESS
THBS3	7059	.	GRCh37	1	155176111	155176111	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs143240289	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	44	87	0	ENST00000368378.3:c.166A>T	p.Ile56Phe	p.I56F	ENST00000368378	NM_007112.4	56	Atc/Ttc	0	C:0.0002	A:0	.	A:0.0014	.	A	I/F	protein_coding	YES	CCDS1099.1	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGATGTCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,SMART_domains:SM00210,Superfamily_domains:SSF49899	A:0	C:0	ENSP00000357362	A:0	2/23	.	.	.	.	.	.	.	.	rs143240289	2/23	PASS	ENST00000368378	Transcript	.	A:0.0002	ENSG00000169231	11787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	A:0	deleterious(0.01)	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,missense_variant,p.Ile56Phe,ENST00000368378,;THBS3,missense_variant,p.Ile56Phe,ENST00000457183,;THBS3,5_prime_UTR_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000368376,;MTX1,upstream_gene_variant,,ENST00000609421,;MTX1,upstream_gene_variant,,ENST00000316721,;THBS3,upstream_gene_variant,,ENST00000541576,;RP11-263K19.4,downstream_gene_variant,,ENST00000453136,;RP11-263K19.6,downstream_gene_variant,,ENST00000455788,;RP11-263K19.4,downstream_gene_variant,,ENST00000422665,;RP11-263K19.4,downstream_gene_variant,,ENST00000430312,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;MTX1,upstream_gene_variant,,ENST00000495589,;THBS3,upstream_gene_variant,,ENST00000460050,;THBS3,missense_variant,p.Ile56Phe,ENST00000428962,;MTX1,upstream_gene_variant,,ENST00000481771,;THBS3,upstream_gene_variant,,ENST00000496332,;MTX1,upstream_gene_variant,,ENST00000424959,;	187	87	164	SUCCESS
PIGM	93183	.	GRCh37	1	160000962	160000962	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751223203	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	82	163	0	ENST00000368090.2:c.568A>G	p.Ile190Val	p.I190V	ENST00000368090	NM_145167.2	190	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1192.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTATGGGAA	NONE	.	.	hmmpanther:PTHR12886:SF0,hmmpanther:PTHR12886,Pfam_domain:PF05007	.	.	ENSP00000357069	.	1/1	.	.	.	.	.	.	.	.	rs751223203	1/1	PASS	ENST00000368090	Transcript	.	.	ENSG00000143315	18858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0.02)	.	PIGM_HUMAN	PIGM	HGNC	.	.	UPI000006D9D7	SNV	PIGM,missense_variant,p.Ile190Val,ENST00000368090,;RP11-226L15.5,upstream_gene_variant,,ENST00000562313,;	822	163	319	SUCCESS
COPA	1314	.	GRCh37	1	160303437	160303437	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	22	71	0	ENST00000241704.7:c.342T>C	p.Asp114=	p.D114=	ENST00000241704	NM_004371.3	114	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS41424.1	342	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGATCATC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF003354,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000357048	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,synonymous_variant,p.%3D,ENST00000368069,;COPA,synonymous_variant,p.%3D,ENST00000241704,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;	420	71	167	SUCCESS
FAM131C	348487	.	GRCh37	1	16390079	16390092	+	frameshift_variant	Frame_Shift_Del	DEL	GGGGTCCGCACCCT	GGGGTCCGCACCCT	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	GGGGTCCGCACCCT	GGGGTCCGCACCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	97	0	ENST00000375662.4:c.62_75del	p.Gln21LeufsTer107	p.Q21Lfs*107	ENST00000375662	NM_182623.2	21	cAGGGTGCGGACCCC/c	0	.	.	.	.	.	-	QGADP/X	protein_coding	YES	CCDS41270.1	62-75	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCAAGGGGTCCGCACCCTGGGGC	NONE	.	.	hmmpanther:PTHR15736:SF2,hmmpanther:PTHR15736	.	.	ENSP00000364814	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000375662	Transcript	.	.	ENSG00000185519	26717	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F131C_HUMAN	FAM131C	HGNC	.	.	UPI000022B016	deletion	FAM131C,frameshift_variant,p.Gln21LeufsTer107,ENST00000375662,;FAM131C,intron_variant,,ENST00000494078,;	246-259	97	63	SUCCESS
EPHA2	1969	.	GRCh37	1	16461026	16461026	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	50	158	0	ENST00000358432.5:c.1619G>A	p.Gly540Asp	p.G540D	ENST00000358432	NM_004431.3	540	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS169.1	1619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCCGCCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24416:SF306,hmmpanther:PTHR24416,Gene3D:1.20.5.510,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	.	.	ENSP00000351209	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000358432	Transcript	.	.	ENSG00000142627	3386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.585)	.	deleterious(0.04)	.	EPHA2_HUMAN	EPHA2	HGNC	Q96HF4_HUMAN,Q8IZL0_HUMAN	.	UPI00000731AB	SNV	EPHA2,missense_variant,p.Gly540Asp,ENST00000358432,;EPHA2,downstream_gene_variant,,ENST00000480202,;EPHA2,upstream_gene_variant,,ENST00000462805,;	1774	158	146	SUCCESS
ARHGEF19	128272	.	GRCh37	1	16533490	16533490	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	60	0	ENST00000270747.3:c.1090A>T	p.Ser364Cys	p.S364C	ENST00000270747	NM_153213.3	364	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS170.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTGCCGC	NONE	.	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF6,Superfamily_domains:SSF48065	.	.	ENSP00000270747	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000270747	Transcript	.	.	ENSG00000142632	26604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	ARHGJ_HUMAN	ARHGEF19	HGNC	.	.	UPI0000074533	SNV	ARHGEF19,missense_variant,p.Ser364Cys,ENST00000270747,;ARHGEF19,upstream_gene_variant,,ENST00000449495,;ARHGEF19,upstream_gene_variant,,ENST00000441785,;ARHGEF19,non_coding_transcript_exon_variant,,ENST00000478117,;ARHGEF19,upstream_gene_variant,,ENST00000478210,;ARHGEF19,upstream_gene_variant,,ENST00000471928,;	1227	60	45	SUCCESS
NBPF1	55672	.	GRCh37	1	16892199	16892199	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773760060	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	54	0	ENST00000430580.2:c.2993C>A	p.Ser998Tyr	p.S998Y	ENST00000430580	NM_017940.4	998	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	.	2993	RADIA|MUSE|VARSCANS	.	GGCAGGAGTCA	NONE	byFrequency	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF16,hmmpanther:PTHR14199,Pfam_domain:PF06758	.	.	ENSP00000474456	.	27/29	.	.	.	.	.	.	.	.	rs773760060	27/29	PASS	ENST00000430580	Transcript	.	.	ENSG00000219481	26088	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.632)	.	deleterious(0.03)	.	.	NBPF1	HGNC	S4R3W5_HUMAN,S4R3K2_HUMAN,S4R3H5_HUMAN,Q3BBU8_HUMAN	.	UPI0000E04FDF	SNV	NBPF1,missense_variant,p.Ser998Tyr,ENST00000430580,;NBPF1,downstream_gene_variant,,ENST00000420031,;NBPF1,downstream_gene_variant,,ENST00000287968,;NBPF1,downstream_gene_variant,,ENST00000432949,;NBPF1,3_prime_UTR_variant,,ENST00000392963,;	3881	54	54	SUCCESS
ABL2	27	.	GRCh37	1	179100575	179100575	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	117	88	1	ENST00000502732.1:c.262G>T	p.Ala88Ser	p.A88S	ENST00000502732	NM_001168237.1	88	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS30947.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGCCTGGG	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	.	.	ENSP00000427562	.	3/12	.	.	.	.	.	.	.	.	COSM900225,COSM1583755,COSM1583756	3/12	PASS	ENST00000502732	Transcript	.	.	ENSG00000143322	77	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.123)	.	tolerated(0.08)	1,1,1	ABL2_HUMAN	ABL2	HGNC	.	.	UPI0000125140	SNV	ABL2,missense_variant,p.Ala67Ser,ENST00000507173,;ABL2,missense_variant,p.Ala73Ser,ENST00000344730,;ABL2,missense_variant,p.Ala73Ser,ENST00000512653,;ABL2,missense_variant,p.Ala88Ser,ENST00000511413,;ABL2,missense_variant,p.Ala52Ser,ENST00000504405,;ABL2,missense_variant,p.Ala52Ser,ENST00000408940,;ABL2,missense_variant,p.Ala67Ser,ENST00000392043,;ABL2,missense_variant,p.Ala88Ser,ENST00000502732,;ABL2,missense_variant,p.Ala67Ser,ENST00000367623,;ABL2,non_coding_transcript_exon_variant,,ENST00000504324,;ABL2,non_coding_transcript_exon_variant,,ENST00000508127,;ABL2,non_coding_transcript_exon_variant,,ENST00000509520,;	466	89	192	SUCCESS
SWT1	54823	.	GRCh37	1	185173859	185173859	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	362	133	262	0	ENST00000367500.4:c.1697A>T	p.Lys566Met	p.K566M	ENST00000367500	NM_017673.6	566	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS1367.1	1697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATAAGGAGG	NONE	.	.	hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0	.	.	ENSP00000356470	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000367500	Transcript	.	.	ENSG00000116668	16785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.711)	.	deleterious(0.01)	.	SWT1_HUMAN	SWT1	HGNC	Q5TC96_HUMAN,B3KSB6_HUMAN	.	UPI000013D4C5	SNV	SWT1,missense_variant,p.Lys566Met,ENST00000367501,;SWT1,missense_variant,p.Lys566Met,ENST00000367500,;	1862	262	496	SUCCESS
HMCN1	83872	.	GRCh37	1	185985342	185985342	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	73	130	1	ENST00000271588.4:c.5162A>T	p.Lys1721Met	p.K1721M	ENST00000271588	NM_031935.2	1721	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS30956.1	5162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGGAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	32/107	.	.	.	.	.	.	.	.	.	32/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Lys1721Met,ENST00000367492,;HMCN1,missense_variant,p.Lys1721Met,ENST00000271588,;	5391	131	294	SUCCESS
HMCN1	83872	.	GRCh37	1	186014950	186014950	+	synonymous_variant	Silent	SNP	G	G	A	rs747509922	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	19	98	0	ENST00000271588.4:c.6435G>A	p.Leu2145=	p.L2145=	ENST00000271588	NM_031935.2	2145	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS30956.1	6435	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGAAGAA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	41/107	.	.	.	.	.	.	.	.	rs747509922	41/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	6664	98	145	SUCCESS
ADORA1	134	.	GRCh37	1	203134431	203134431	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	54	0	ENST00000309502.3:c.384A>T	p.Ile128=	p.I128=	ENST00000309502		128	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1434.1	384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATAGCCGG	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24246:SF1,hmmpanther:PTHR24246,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000356205	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367236	Transcript	.	.	ENSG00000163485	262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AA1R_HUMAN	ADORA1	HGNC	.	.	UPI00000503E1	SNV	ADORA1,synonymous_variant,p.%3D,ENST00000367236,;ADORA1,synonymous_variant,p.%3D,ENST00000309502,;ADORA1,synonymous_variant,p.%3D,ENST00000337894,;ADORA1,3_prime_UTR_variant,,ENST00000367235,;MYBPH,downstream_gene_variant,,ENST00000255416,;ADORA1,non_coding_transcript_exon_variant,,ENST00000467253,;ADORA1,non_coding_transcript_exon_variant,,ENST00000472535,;ADORA1,non_coding_transcript_exon_variant,,ENST00000464019,;	1305	54	92	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227204675	227204675	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs748479226	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	27	102	0	ENST00000334218.5:c.4587del	p.Arg1530ValfsTer24	p.R1530Vfs*24	ENST00000334218		1529	cgG/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS1558.1	4587	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAACGCCGCTT	NONE	byFrequency	.	hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31	.	.	ENSP00000355731	.	32/36	.	.	.	.	.	.	.	.	rs748479226,COSM367001,COSM367000,COSM366999	32/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	.	.	.	0,1,1,1	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	deletion	CDC42BPA,frameshift_variant,p.Arg1449ValfsTer24,ENST00000366767,;CDC42BPA,frameshift_variant,p.Arg428ValfsTer24,ENST00000429440,;CDC42BPA,frameshift_variant,p.Arg859ValfsTer24,ENST00000442054,;CDC42BPA,frameshift_variant,p.Arg1530ValfsTer24,ENST00000366769,;CDC42BPA,frameshift_variant,p.Arg1543ValfsTer24,ENST00000366765,;CDC42BPA,frameshift_variant,p.Arg733ValfsTer24,ENST00000448940,;CDC42BPA,frameshift_variant,p.Arg1530ValfsTer24,ENST00000334218,;CDC42BPA,frameshift_variant,p.Arg1502ValfsTer24,ENST00000366764,;CDC42BPA,frameshift_variant,p.Arg1565ValfsTer24,ENST00000366766,;CDC42BPA,frameshift_variant,p.Arg1510ValfsTer24,ENST00000535525,;	5879	102	129	SUCCESS
RYR2	6262	.	GRCh37	1	237905615	237905615	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	40	0	ENST00000366574.2:c.11111A>T	p.Asp3704Val	p.D3704V	ENST00000366574	NM_001035.2	3704	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS55691.1	11111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGATGACG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	80/105	.	.	.	.	.	.	.	.	.	80/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Asp3688Val,ENST00000542537,;RYR2,missense_variant,p.Asp3704Val,ENST00000366574,;RYR2,missense_variant,p.Asp3702Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	11428	40	65	SUCCESS
SCCPDH	51097	.	GRCh37	1	246923257	246923257	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	54	96	0	ENST00000366510.3:c.814-2A>T		p.X272_splice	ENST00000366510	NM_016002.2	272		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31084.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTAGGTTC	NONE	.	.	.	.	.	ENSP00000355467	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366510	Transcript	.	.	ENSG00000143653	24275	.	.	HIGH	7/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCPDL_HUMAN	SCCPDH	HGNC	.	.	UPI00000350AB	SNV	SCCPDH,splice_acceptor_variant,,ENST00000366510,;RP11-439E19.6,upstream_gene_variant,,ENST00000413092,;	.	96	84	SUCCESS
GPR3	2827	.	GRCh37	1	27720946	27720946	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	32	0	ENST00000374024.3:c.644A>T	p.Gln215Leu	p.Q215L	ENST00000374024	NM_005281.3	215	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS303.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCAAATCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF39,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000363136	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374024	Transcript	.	.	ENSG00000181773	4484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.18)	.	GPR3_HUMAN	GPR3	HGNC	F1DAM5_HUMAN	.	UPI0000001624	SNV	GPR3,missense_variant,p.Gln215Leu,ENST00000374024,;RP1-144C9.2,downstream_gene_variant,,ENST00000443746,;	743	32	32	SUCCESS
CCDC30	728621	.	GRCh37	1	43011176	43011176	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs371862568	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	344	29	313	0	ENST00000340612.4:c.351T>A	p.Cys117Ter	p.C117*	ENST00000340612		117	tgT/tgA	0	C:0	.	.	.	.	A	C/*	protein_coding	YES	CCDS30690.1	351	MUTECT|MUSE	.	ACCTGTAAAGA	NONE	.	.	.	.	C:0.0001	ENSP00000397035	.	11/23	.	.	.	.	.	.	.	.	rs371862568	11/23	PASS	ENST00000428554	Transcript	.	.	ENSG00000186409	26103	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD30_HUMAN	CCDC30	HGNC	D6RFH8_HUMAN	.	UPI0000458A0B	SNV	CCDC30,stop_gained,p.Cys117Ter,ENST00000428554,;CCDC30,stop_gained,p.Cys117Ter,ENST00000340612,;CCDC30,stop_gained,p.Cys117Ter,ENST00000342022,;CCDC30,intron_variant,,ENST00000390640,;CCDC30,intron_variant,,ENST00000507855,;CCDC30,stop_gained,p.Cys71Ter,ENST00000509712,;CCDC30,5_prime_UTR_variant,,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;CCDC30,intron_variant,,ENST00000514642,;	1494	314	374	SUCCESS
SZT2	23334	.	GRCh37	1	43903332	43903332	+	synonymous_variant	Silent	SNP	G	G	A	rs1488981993	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	38	0	ENST00000562955.1:c.6186G>A	p.Leu2062=	p.L2062=	ENST00000562955	NM_015284.3	2062	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS30694.2	6186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGTCCCG	NONE	.	.	hmmpanther:PTHR14918	.	.	ENSP00000457168	.	44/71	.	.	.	.	.	.	.	.	.	44/71	PASS	ENST00000562955	Transcript	.	.	ENSG00000198198	29040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SZT2_HUMAN	SZT2	HGNC	.	.	UPI0001E24F46	SNV	SZT2,synonymous_variant,p.%3D,ENST00000372442,;SZT2,synonymous_variant,p.%3D,ENST00000562955,;SZT2,upstream_gene_variant,,ENST00000471177,;SZT2,non_coding_transcript_exon_variant,,ENST00000470897,;	6186	38	36	SUCCESS
AGBL4	84871	.	GRCh37	1	50163062	50163062	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	96	325	0	ENST00000371839.1:c.205T>A	p.Phe69Ile	p.F69I	ENST00000371839	NM_032785.3	69	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS44137.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAACAGAT	NONE	.	.	hmmpanther:PTHR12756	.	.	ENSP00000360905	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000371839	Transcript	.	.	ENSG00000186094	25892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	.	deleterious(0.01)	.	CBPC6_HUMAN	AGBL4	HGNC	.	.	UPI00002042F9	SNV	AGBL4,missense_variant,p.Phe69Ile,ENST00000371839,;AGBL4,missense_variant,p.Phe69Ile,ENST00000371838,;AGBL4,missense_variant,p.Phe69Ile,ENST00000371836,;AGBL4,non_coding_transcript_exon_variant,,ENST00000497451,;	322	325	314	SUCCESS
TTC22	55001	.	GRCh37	1	55252674	55252674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	19	0	ENST00000371276.4:c.814G>T	p.Asp272Tyr	p.D272Y	ENST00000371276	NM_001114108.1	272	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS44152.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCATGGA	NONE	.	.	hmmpanther:PTHR16253,hmmpanther:PTHR16253:SF2,Gene3D:1.25.40.10	.	.	ENSP00000360323	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000371276	Transcript	.	.	ENSG00000006555	26067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	TTC22_HUMAN	TTC22	HGNC	.	.	UPI0000470B73	SNV	TTC22,missense_variant,p.Asp272Tyr,ENST00000371274,;TTC22,missense_variant,p.Asp53Tyr,ENST00000448308,;TTC22,missense_variant,p.Asp272Tyr,ENST00000371276,;TTC22,non_coding_transcript_exon_variant,,ENST00000488771,;TTC22,non_coding_transcript_exon_variant,,ENST00000474654,;	918	19	27	SUCCESS
PCSK9	255738	.	GRCh37	1	55525335	55525335	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	62	107	1	ENST00000302118.5:c.1680A>T		p.X560_splice	ENST00000302118	NM_174936.3	560	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS603.1	1680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAGGTAG	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333	.	.	ENSP00000303208	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000302118	Transcript	.	.	ENSG00000169174	20001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCSK9_HUMAN	PCSK9	HGNC	.	.	UPI00001615E1	SNV	PCSK9,synonymous_variant,p.%3D,ENST00000302118,;PCSK9,splice_region_variant,,ENST00000543384,;PCSK9,intron_variant,,ENST00000490692,;	1970	108	123	SUCCESS
CHD5	26038	.	GRCh37	1	6228214	6228214	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	45	0	ENST00000262450.3:c.203A>T	p.Lys68Ile	p.K68I	ENST00000262450	NM_015557.2	68	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS57.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000262450	.	2/42	.	.	.	.	.	.	.	.	.	2/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious_low_confidence(0)	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,missense_variant,p.Lys68Ile,ENST00000262450,;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Lys68Ile,ENST00000496404,;	303	45	40	SUCCESS
SERBP1	26135	.	GRCh37	1	67889920	67889920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	53	0	ENST00000370995.2:c.781G>T	p.Gly261Cys	p.G261C	ENST00000370995		261	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS30746.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCTTCAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF04774,hmmpanther:PTHR12299:SF22,hmmpanther:PTHR12299	.	.	ENSP00000360034	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000370995	Transcript	.	.	ENSG00000142864	17860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.09)	.	PAIRB_HUMAN	SERBP1	HGNC	.	.	UPI0000036970	SNV	SERBP1,missense_variant,p.Gly261Cys,ENST00000370995,;SERBP1,missense_variant,p.Gly240Cys,ENST00000370994,;SERBP1,missense_variant,p.Gly246Cys,ENST00000361219,;SERBP1,missense_variant,p.Gly255Cys,ENST00000370990,;SERBP1,non_coding_transcript_exon_variant,,ENST00000484880,;SERBP1,non_coding_transcript_exon_variant,,ENST00000493607,;SERBP1,downstream_gene_variant,,ENST00000490406,;SERBP1,upstream_gene_variant,,ENST00000462814,;	867	54	59	SUCCESS
RABGGTB	5876	.	GRCh37	1	76255846	76255846	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	12	0	ENST00000319942.3:c.415+104A>T		p.*139*	ENST00000319942	NM_004582.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTAAGCAGC	NONE	.	.	.	.	.	ENSP00000317473	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319942	Transcript	.	.	ENSG00000137955	9796	.	.	MODIFIER	4/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGTB2_HUMAN	RABGGTB	HGNC	Q6IB63_HUMAN,D3DQ78_HUMAN	.	UPI0000131891	SNV	RABGGTB,5_prime_UTR_variant,,ENST00000535300,;RABGGTB,intron_variant,,ENST00000319942,;RABGGTB,downstream_gene_variant,,ENST00000370826,;SNORD45B,downstream_gene_variant,,ENST00000364617,;SNORD45A,downstream_gene_variant,,ENST00000384512,;SNORD45C,downstream_gene_variant,,ENST00000383893,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000485459,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000496055,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000461653,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000489450,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000471759,;RABGGTB,intron_variant,,ENST00000470201,;RABGGTB,intron_variant,,ENST00000473406,;RABGGTB,intron_variant,,ENST00000491266,;RABGGTB,downstream_gene_variant,,ENST00000462042,;RABGGTB,upstream_gene_variant,,ENST00000459697,;RABGGTB,upstream_gene_variant,,ENST00000467748,;RABGGTB,downstream_gene_variant,,ENST00000497648,;ACADM,downstream_gene_variant,,ENST00000528016,;	.	12	22	SUCCESS
CAMTA1	23261	.	GRCh37	1	7721921	7721921	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761165547	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	56	107	0	ENST00000303635.7:c.800G>C	p.Ser267Thr	p.S267T	ENST00000303635	NM_015215.2	267	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS30576.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGCCTGG	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	8/23	.	.	.	.	.	.	.	.	rs761165547	8/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.64)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Ser267Thr,ENST00000303635,;CAMTA1,missense_variant,p.Ser267Thr,ENST00000439411,;	1007	107	77	SUCCESS
ODF2L	57489	.	GRCh37	1	86817829	86817829	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	105	184	0	ENST00000317336.7:c.1893+713A>T		p.*631*	ENST00000317336	NM_001184765.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41354.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTAGGTT	NONE	.	.	.	.	.	ENSP00000359600	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000359242	Transcript	.	.	ENSG00000122417	29225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODF2L_HUMAN	ODF2L	HGNC	B5ME44_HUMAN	.	UPI00001C1D6A	SNV	ODF2L,3_prime_UTR_variant,,ENST00000294678,;ODF2L,3_prime_UTR_variant,,ENST00000359242,;ODF2L,intron_variant,,ENST00000394731,;ODF2L,intron_variant,,ENST00000370566,;ODF2L,intron_variant,,ENST00000460698,;ODF2L,intron_variant,,ENST00000317336,;ODF2L,intron_variant,,ENST00000462648,;ODF2L,intron_variant,,ENST00000370567,;ODF2L,downstream_gene_variant,,ENST00000524695,;ODF2L,downstream_gene_variant,,ENST00000531412,;ODF2L,downstream_gene_variant,,ENST00000472144,;ODF2L,downstream_gene_variant,,ENST00000473792,;ODF2L,downstream_gene_variant,,ENST00000476054,;	2238	184	175	SUCCESS
HFM1	164045	.	GRCh37	1	91843601	91843601	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	55	218	0	ENST00000370425.3:c.1376C>G	p.Thr459Arg	p.T459R	ENST00000370425	NM_001017975.3	459	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS30769.2	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGTTGCA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000359454	.	11/39	.	.	.	.	.	.	.	.	.	11/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,missense_variant,p.Thr138Arg,ENST00000370424,;HFM1,missense_variant,p.Thr459Arg,ENST00000370425,;HFM1,5_prime_UTR_variant,,ENST00000294696,;HFM1,downstream_gene_variant,,ENST00000448819,;HFM1,non_coding_transcript_exon_variant,,ENST00000481900,;HFM1,non_coding_transcript_exon_variant,,ENST00000488023,;	1475	218	229	SUCCESS
SNTA1	6640	.	GRCh37	20	32026678	32026678	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	76	0	ENST00000217381.2:c.465C>G	p.Leu155=	p.L155=	ENST00000217381	NM_003098.2	155	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13220.1	465	RADIA|MUTECT|MUSE	.	TTCTTGAGGAC	NONE	.	.	PROSITE_profiles:PS50106,PROSITE_profiles:PS50003,hmmpanther:PTHR10554:SF6,hmmpanther:PTHR10554,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,SMART_domains:SM00233,Superfamily_domains:SSF50156	.	.	ENSP00000217381	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000217381	Transcript	1	.	ENSG00000101400	11167	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNTA1_HUMAN	SNTA1	HGNC	B3KTR0_HUMAN	.	UPI0000135B08	SNV	SNTA1,synonymous_variant,p.%3D,ENST00000217381,;	737	76	145	SUCCESS
SNTA1	6640	.	GRCh37	20	32026712	32026712	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764612744	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	20	80	0	ENST00000217381.2:c.431C>A	p.Ser144Tyr	p.S144Y	ENST00000217381	NM_003098.2	144	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS13220.1	431	RADIA|MUTECT	.	CAGAGGACAAG	NONE	.	.	PROSITE_profiles:PS50106,PROSITE_profiles:PS50003,hmmpanther:PTHR10554:SF6,hmmpanther:PTHR10554,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,SMART_domains:SM00233,Superfamily_domains:SSF50156	.	.	ENSP00000217381	.	2/8	.	.	.	.	.	.	.	.	rs764612744	2/8	PASS	ENST00000217381	Transcript	1	.	ENSG00000101400	11167	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	SNTA1_HUMAN	SNTA1	HGNC	B3KTR0_HUMAN	.	UPI0000135B08	SNV	SNTA1,missense_variant,p.Ser144Tyr,ENST00000217381,;	703	81	141	SUCCESS
PREX1	57580	.	GRCh37	20	47268095	47268095	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780805102	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	46	0	ENST00000371941.3:c.2494C>T	p.Arg832Trp	p.R832W	ENST00000371941	NM_020820.3	832	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS13410.1	2494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGGGGAC	NONE	byFrequency	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	.	.	ENSP00000361009	.	22/40	.	.	.	.	.	.	.	.	rs780805102	22/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.339)	.	deleterious(0.01)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Arg832Trp,ENST00000396220,;PREX1,missense_variant,p.Arg832Trp,ENST00000371941,;PREX1,missense_variant,p.Arg154Trp,ENST00000482556,;	2517	46	40	SUCCESS
C20orf166-AS1	0	.	GRCh37	20	61143475	61143475	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	34	0	ENST00000412495.1:n.1171T>A		p.*391*	ENST00000412495				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46627.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATAGAGAC	NONE	.	4185	.	.	.	ENSP00000359558	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370527	Transcript	.	.	ENSG00000174407	16159	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT166_HUMAN	C20orf166	HGNC	.	.	UPI000012861B	SNV	C20orf166,upstream_gene_variant,,ENST00000370524,;C20orf166,upstream_gene_variant,,ENST00000370527,;C20orf166-AS1,non_coding_transcript_exon_variant,,ENST00000412495,;C20orf166-AS1,non_coding_transcript_exon_variant,,ENST00000475015,;C20orf166-AS1,downstream_gene_variant,,ENST00000436101,;	.	34	27	SUCCESS
ARFGAP1	55738	.	GRCh37	20	61919056	61919056	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	94	0	ENST00000370283.4:c.1052G>A	p.Cys351Tyr	p.C351Y	ENST00000370283	NM_018209.3	351	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS13516.1	1076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTGCGCGG	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF35	.	.	ENSP00000314615	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000353546	Transcript	.	.	ENSG00000101199	15852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.57)	.	ARFG1_HUMAN	ARFGAP1	HGNC	F8VWH9_HUMAN,F8VWB3_HUMAN,E5RIU2_HUMAN	.	UPI000002A3F2	SNV	ARFGAP1,missense_variant,p.Cys107Tyr,ENST00000523460,;ARFGAP1,missense_variant,p.Cys17Tyr,ENST00000549076,;ARFGAP1,missense_variant,p.Cys351Tyr,ENST00000370283,;ARFGAP1,missense_variant,p.Cys306Tyr,ENST00000519604,;ARFGAP1,missense_variant,p.Cys285Tyr,ENST00000547204,;ARFGAP1,missense_variant,p.Cys359Tyr,ENST00000353546,;ARFGAP1,missense_variant,p.Cys238Tyr,ENST00000519273,;ARFGAP1,3_prime_UTR_variant,,ENST00000370275,;ARFGAP1,downstream_gene_variant,,ENST00000518601,;ARFGAP1,downstream_gene_variant,,ENST00000522403,;ARFGAP1,downstream_gene_variant,,ENST00000549047,;MIR4326,downstream_gene_variant,,ENST00000582203,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000468975,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518618,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518794,;ARFGAP1,3_prime_UTR_variant,,ENST00000520485,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000395285,;ARFGAP1,downstream_gene_variant,,ENST00000520022,;ARFGAP1,downstream_gene_variant,,ENST00000518691,;ARFGAP1,downstream_gene_variant,,ENST00000519531,;	1136	94	105	SUCCESS
KCNQ2	3785	.	GRCh37	20	62038313	62038313	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	105	142	0	ENST00000359125.2:c.2303A>T	p.Gln768Leu	p.Q768L	ENST00000359125	NM_172107.2	768	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13520.1	2303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGCCGC	NONE	.	.	Pfam_domain:PF11956	.	.	ENSP00000352035	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000359125	Transcript	1	.	ENSG00000075043	6296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.39)	.	KCNQ2_HUMAN	KCNQ2	HGNC	.	.	UPI00001279ED	SNV	KCNQ2,missense_variant,p.Gln768Leu,ENST00000359689,;KCNQ2,missense_variant,p.Gln768Leu,ENST00000359125,;KCNQ2,missense_variant,p.Gln776Leu,ENST00000354587,;KCNQ2,missense_variant,p.Gln776Leu,ENST00000370224,;KCNQ2,missense_variant,p.Gln740Leu,ENST00000360480,;KCNQ2,missense_variant,p.Gln750Leu,ENST00000357249,;KCNQ2,missense_variant,p.Gln737Leu,ENST00000344462,;	2478	142	190	SUCCESS
ADAMTS5	11096	.	GRCh37	21	28338522	28338522	+	synonymous_variant	Silent	SNP	G	G	T	rs780087867	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	55	61	0	ENST00000284987.5:c.189C>A	p.Pro63=	p.P63=	ENST00000284987	NM_007038.3	63	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13579.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGGGGTG	NONE	byFrequency	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,Pfam_domain:PF01562	.	.	ENSP00000284987	.	1/8	.	.	.	.	.	.	.	.	rs780087867	1/8	PASS	ENST00000284987	Transcript	.	.	ENSG00000154736	221	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS5_HUMAN	ADAMTS5	HGNC	.	.	UPI00001AEAC2	SNV	ADAMTS5,synonymous_variant,p.%3D,ENST00000284987,;	311	61	88	SUCCESS
TTC3	7267	.	GRCh37	21	38567975	38567975	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	33	136	0	ENST00000354749.2:c.5218-1G>A		p.X1740_splice	ENST00000354749		1740		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13651.1	.	RADIA|MUTECT|MUSE	.	TCACAGGTTCA	NONE	.	.	.	.	.	ENSP00000381981	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	HIGH	41/45	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,splice_acceptor_variant,,ENST00000354749,;TTC3,splice_acceptor_variant,,ENST00000428693,;TTC3,splice_acceptor_variant,,ENST00000355666,;TTC3,splice_acceptor_variant,,ENST00000399017,;TTC3-AS1,upstream_gene_variant,,ENST00000424733,;TTC3,splice_acceptor_variant,,ENST00000488522,;TTC3,splice_acceptor_variant,,ENST00000479930,;TTC3,splice_acceptor_variant,,ENST00000476784,;	.	136	152	SUCCESS
TTC3	7267	.	GRCh37	21	38567997	38567997	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	32	142	0	ENST00000354749.2:c.5239G>T	p.Glu1747Ter	p.E1747*	ENST00000354749		1747	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13651.1	5239	RADIA|MUTECT|MUSE	.	TCCCTGAGTCT	NONE	.	.	hmmpanther:PTHR17550	.	.	ENSP00000381981	.	42/46	.	.	.	.	.	.	.	.	.	42/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,stop_gained,p.Glu1747Ter,ENST00000354749,;TTC3,stop_gained,p.Glu39Ter,ENST00000428693,;TTC3,stop_gained,p.Glu1747Ter,ENST00000355666,;TTC3,stop_gained,p.Glu1747Ter,ENST00000399017,;TTC3-AS1,upstream_gene_variant,,ENST00000424733,;TTC3,non_coding_transcript_exon_variant,,ENST00000488522,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;	7986	142	149	SUCCESS
KRTAP10-10	353333	.	GRCh37	21	46057580	46057580	+	synonymous_variant	Silent	SNP	G	G	T	rs150687639	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	28	0	ENST00000380095.1:c.246G>T	p.Pro82=	p.P82=	ENST00000380095	NM_181688.1	82	ccG/ccT	0	.	A:0.0166	.	A:0	.	T	P	protein_coding	YES	CCDS33585.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGGATTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23262:SF40,hmmpanther:PTHR23262,Pfam_domain:PF13885	A:0	.	ENSP00000369438	A:0	1/1	.	.	.	.	.	.	.	.	rs150687639	1/1	PASS	ENST00000380095	Transcript	.	A:0.0044	ENSG00000221859	22972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	KR10A_HUMAN	KRTAP10-10	HGNC	.	.	UPI00001A95B8	SNV	KRTAP10-10,synonymous_variant,p.%3D,ENST00000380095,;TSPEAR,intron_variant,,ENST00000323084,;	308	28	32	SUCCESS
SCARF2	91179	.	GRCh37	22	20784091	20784091	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	108	0	ENST00000266214.5:c.1232A>T	p.His411Leu	p.H411L	ENST00000266214	NM_153334.4	411	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS13779.1	1232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGTGGAGT	NONE	.	.	hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,SMART_domains:SM00180	.	.	ENSP00000266214	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000266214	Transcript	.	.	ENSG00000244486	19869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.02)	.	SREC2_HUMAN	SCARF2	HGNC	.	.	UPI0000135F1C	SNV	SCARF2,missense_variant,p.His411Leu,ENST00000405555,;SCARF2,missense_variant,p.His411Leu,ENST00000266214,;KLHL22,3_prime_UTR_variant,,ENST00000429594,;SCARF2,non_coding_transcript_exon_variant,,ENST00000494535,;	1337	108	80	SUCCESS
KLHL22	84861	.	GRCh37	22	20819206	20819206	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372979261	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	43	0	ENST00000328879.4:c.1051G>A	p.Val351Ile	p.V351I	ENST00000328879	NM_032775.3	351	Gta/Ata	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS13780.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATACGAAGT	BUFFER|p.F350F|c.1050C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR24412:SF180,hmmpanther:PTHR24412,Pfam_domain:PF13964,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	T:0.0002	ENSP00000331682	.	4/7	.	.	.	.	.	.	.	.	rs372979261,COSM1212622	4/7	PASS	ENST00000328879	Transcript	.	.	ENSG00000099910	25888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.185)	.	tolerated(0.1)	0,1	KLH22_HUMAN	KLHL22	HGNC	C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN	.	UPI0000072F37	SNV	KLHL22,missense_variant,p.Val351Ile,ENST00000328879,;KLHL22,missense_variant,p.Val208Ile,ENST00000440659,;KLHL22,downstream_gene_variant,,ENST00000443285,;KLHL22,downstream_gene_variant,,ENST00000431430,;KLHL22,downstream_gene_variant,,ENST00000444967,;KLHL22,downstream_gene_variant,,ENST00000458248,;KLHL22,downstream_gene_variant,,ENST00000451553,;KLHL22,intron_variant,,ENST00000487090,;KLHL22,downstream_gene_variant,,ENST00000494929,;KLHL22,non_coding_transcript_exon_variant,,ENST00000479601,;	1208	43	29	SUCCESS
APOL6	80830	.	GRCh37	22	36054890	36054908	+	frameshift_variant	Frame_Shift_Del	DEL	CCTGGGTTTAGCCCTTGCC	CCTGGGTTTAGCCCTTGCC	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	CCTGGGTTTAGCCCTTGCC	CCTGGGTTTAGCCCTTGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	70	0	ENST00000409652.4:c.281_299del	p.Leu94GlnfsTer27	p.L94Qfs*27	ENST00000409652	NM_030641.3	93	ctCCTGGGTTTAGCCCTTGCC/ct	0	.	.	.	.	.	-	LLGLALA/X	protein_coding	YES	CCDS13919.1	279-297	INDELOCATOR*|PINDEL	.	GAGCCTCCTGGGTTTAGCCCTTGCCCCAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF05461,hmmpanther:PTHR14096:SF7,hmmpanther:PTHR14096	.	.	ENSP00000386280	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000409652	Transcript	.	.	ENSG00000221963	14870	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOL6_HUMAN	APOL6	HGNC	Q8NCM1_HUMAN,B3KTP4_HUMAN	.	UPI000000DC62	deletion	APOL6,frameshift_variant,p.Leu94GlnfsTer27,ENST00000409652,;	555-573	70	60	SUCCESS
PLXNB2	23654	.	GRCh37	22	50722376	50722376	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	37	0	ENST00000359337.4:c.2307G>C	p.Leu769=	p.L769=	ENST00000359337	NM_012401.3	769	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43035.1	2307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCACAGGCT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9,Gene3D:3.30.1680.10,SMART_domains:SM00423	.	.	ENSP00000409171	.	14/37	.	.	.	.	.	.	.	.	.	14/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,synonymous_variant,p.%3D,ENST00000359337,;PLXNB2,synonymous_variant,p.%3D,ENST00000449103,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,upstream_gene_variant,,ENST00000427829,;PLXNB2,downstream_gene_variant,,ENST00000432455,;PLXNB2,downstream_gene_variant,,ENST00000434732,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000496720,;PLXNB2,upstream_gene_variant,,ENST00000479701,;PLXNB2,upstream_gene_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000492578,;	2448	37	31	SUCCESS
NMS	129521	.	GRCh37	2	101096962	101096962	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs768190752	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	66	0	ENST00000376865.1:c.341C>A	p.Ser114Ter	p.S114*	ENST00000376865	NM_001011717.1	114	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS33259.1	341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCGGGGA	NONE	.	.	hmmpanther:PTHR32414	.	.	ENSP00000366061	.	7/10	.	.	.	.	.	.	.	.	rs768190752	7/10	PASS	ENST00000376865	Transcript	.	.	ENSG00000204640	32203	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMS_HUMAN	NMS	HGNC	.	.	UPI00004C7A83	SNV	NMS,stop_gained,p.Ser114Ter,ENST00000376865,;	348	66	70	SUCCESS
SLC9A4	389015	.	GRCh37	2	103142769	103142769	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	34	58	0	ENST00000295269.4:c.2002T>A	p.Ser668Thr	p.S668T	ENST00000295269	NM_001011552.3	668	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS33264.1	2002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGTCTGCA	NONE	.	.	hmmpanther:PTHR10110:SF103,hmmpanther:PTHR10110	.	.	ENSP00000295269	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000295269	Transcript	.	.	ENSG00000180251	11077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.38)	.	SL9A4_HUMAN	SLC9A4	HGNC	.	.	UPI000047F996	SNV	SLC9A4,missense_variant,p.Ser668Thr,ENST00000295269,;	2459	58	62	SUCCESS
RGPD4	285190	.	GRCh37	2	108479161	108479161	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	146	294	1	ENST00000408999.3:c.2229A>T	p.Val743=	p.V743=	ENST00000408999	NM_182588.2	743	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46381.1	2229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTAAAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	2306	295	282	SUCCESS
TFCP2L1	29842	.	GRCh37	2	122005784	122005784	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	53	0	ENST00000263707.5:c.460G>A	p.Glu154Lys	p.E154K	ENST00000263707	NM_014553.2	154	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2134.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTCGACTG	NONE	.	.	hmmpanther:PTHR11037:SF15,hmmpanther:PTHR11037,Pfam_domain:PF04516	.	.	ENSP00000263707	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000263707	Transcript	.	.	ENSG00000115112	17925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.385)	.	deleterious(0)	.	TF2L1_HUMAN	TFCP2L1	HGNC	Q5JV87_HUMAN,Q53RS7_HUMAN	.	UPI0000072817	SNV	TFCP2L1,missense_variant,p.Glu154Lys,ENST00000263707,;	558	53	39	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125320846	125320846	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1573461155	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	65	0	ENST00000431078.1:c.1699A>C	p.Thr567Pro	p.T567P	ENST00000431078	NM_130773.3	567	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS46401.1	1699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTACCTTC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000399013	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	deleterious(0.02)	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.Thr567Pro,ENST00000431078,;	2063	65	61	SUCCESS
NEB	4703	.	GRCh37	2	152500412	152500412	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	40	144	1	ENST00000172853.10:c.7876A>G	p.Asn2626Asp	p.N2626D	ENST00000172853		2626	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS54407.1	7876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTTCTTGT	NONE	.	.	hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	57/182	.	.	.	.	.	.	.	.	.	57/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.601)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Asn2626Asp,ENST00000603639,;NEB,missense_variant,p.Asn2626Asp,ENST00000172853,;NEB,missense_variant,p.Asn2626Asp,ENST00000427231,;NEB,missense_variant,p.Asn2626Asp,ENST00000397345,;NEB,missense_variant,p.Asn2626Asp,ENST00000604864,;NEB,missense_variant,p.Asn2626Asp,ENST00000409198,;	8079	145	144	SUCCESS
TANC1	85461	.	GRCh37	2	160086859	160086859	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757550585	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	57	65	0	ENST00000263635.6:c.4922C>T	p.Ala1641Val	p.A1641V	ENST00000263635	NM_033394.2	1641	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42766.1	4922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCCCCTC	NONE	.	.	hmmpanther:PTHR24166:SF23,hmmpanther:PTHR24166	.	.	ENSP00000263635	.	27/27	.	.	.	.	.	.	.	.	rs757550585	27/27	PASS	ENST00000263635	Transcript	.	.	ENSG00000115183	29364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.15)	.	TANC1_HUMAN	TANC1	HGNC	.	.	UPI0000421D80	SNV	TANC1,missense_variant,p.Ala1641Val,ENST00000263635,;TANC1,missense_variant,p.Ala1535Val,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000496406,;TANC1,non_coding_transcript_exon_variant,,ENST00000470074,;	5159	65	98	SUCCESS
COBLL1	22837	.	GRCh37	2	165550814	165550814	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	42	121	1	ENST00000392717.2:c.3316T>G	p.Phe1106Val	p.F1106V	ENST00000392717		1106	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS2223.2	3202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAATTTAT	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.66)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Phe1030Val,ENST00000375458,;COBLL1,missense_variant,p.Phe1068Val,ENST00000409184,;COBLL1,missense_variant,p.Phe1068Val,ENST00000342193,;COBLL1,missense_variant,p.Phe1106Val,ENST00000392717,;COBLL1,missense_variant,p.Phe1135Val,ENST00000194871,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;	3418	122	145	SUCCESS
XIRP2	129446	.	GRCh37	2	168100021	168100021	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775118091	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	100	252	1	ENST00000409195.1:c.2119C>T	p.Leu707Phe	p.L707F	ENST00000409195	NM_152381.5	707	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS42769.1	2119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCTTCAT	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs775118091	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Leu485Phe,ENST00000409273,;XIRP2,missense_variant,p.Leu707Phe,ENST00000409195,;XIRP2,missense_variant,p.Leu707Phe,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2208	253	301	SUCCESS
XIRP2	129446	.	GRCh37	2	168100737	168100737	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	161	247	0	ENST00000409195.1:c.2835G>A	p.Val945=	p.V945=	ENST00000409195	NM_152381.5	945	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42769.1	2835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTGAAGAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,PROSITE_profiles:PS51389	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2924	247	267	SUCCESS
MLTK	0	.	GRCh37	2	173955762	173955762	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	82	0	ENST00000375213.3:c.3G>T	p.Met1?	p.M1?	ENST00000375213	NM_016653.2	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS42777.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATGTCGTC	NONE	.	.	.	.	.	ENSP00000364361	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000375213	Transcript	.	.	ENSG00000091436	.	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious_low_confidence(0)	.	MLTK_HUMAN	MLTK	Uniprot_gn	C9J3F7_HUMAN	.	UPI0000073F69	SNV	MLTK,start_lost,p.Met1?,ENST00000409176,;MLTK,start_lost,p.Met1?,ENST00000422149,;MLTK,start_lost,p.Met1?,ENST00000375213,;MLTK,start_lost,p.Met1?,ENST00000338983,;MLTK,start_lost,p.Met1?,ENST00000539448,;MLTK,intron_variant,,ENST00000431503,;MLTK,intron_variant,,ENST00000468408,;MLTK,non_coding_transcript_exon_variant,,ENST00000476618,;	81	82	83	SUCCESS
TTN	7273	.	GRCh37	2	179560620	179560620	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	48	101	0	ENST00000591111.1:c.30228A>T	p.Val10076=	p.V10076=	ENST00000591111		10076	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS59435.1	31179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATTACTTC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	114/363	.	.	.	.	.	.	.	.	.	114/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000414766,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31404	101	134	SUCCESS
ZNF804A	91752	.	GRCh37	2	185803176	185803176	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	27	108	0	ENST00000302277.6:c.3053T>A	p.Val1018Glu	p.V1018E	ENST00000302277	NM_194250.1	1018	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS2291.1	3053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTAACAG	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.01)	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.Val1018Glu,ENST00000302277,;	3647	108	120	SUCCESS
MDH1B	130752	.	GRCh37	2	207620148	207620148	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	68	0	ENST00000374412.3:c.495A>T	p.Ile165=	p.I165=	ENST00000374412	NM_001039845.1	165	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33365.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTTATGCT	NONE	.	.	hmmpanther:PTHR23382:SF1,hmmpanther:PTHR23382,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000363533	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000374412	Transcript	.	.	ENSG00000138400	17836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDH1B_HUMAN	MDH1B	HGNC	C9JER5_HUMAN,B4DY40_HUMAN	.	UPI00001D7E19	SNV	MDH1B,synonymous_variant,p.%3D,ENST00000454776,;MDH1B,synonymous_variant,p.%3D,ENST00000374412,;MDH1B,synonymous_variant,p.%3D,ENST00000449792,;MDH1B,intron_variant,,ENST00000392214,;MDH1B,intron_variant,,ENST00000432911,;MDH1B,intron_variant,,ENST00000436472,;MDH1B,downstream_gene_variant,,ENST00000471988,;	771	68	66	SUCCESS
FZD5	7855	.	GRCh37	2	208633602	208633602	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	29	123	0	ENST00000295417.3:c.-139T>C		p.*47*	ENST00000295417	NM_003468.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33366.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGAAAACC	NONE	.	.	.	.	.	ENSP00000354607	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295417	Transcript	.	.	ENSG00000163251	4043	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD5_HUMAN	FZD5	HGNC	.	.	UPI000013E255	SNV	FZD5,5_prime_UTR_variant,,ENST00000295417,;	416	123	133	SUCCESS
IQCA1	79781	.	GRCh37	2	237285770	237285770	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	43	0	ENST00000409907.3:c.1537A>T	p.Lys513Ter	p.K513*	ENST00000409907	NM_024726.4	513	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS46549.1	1537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTTCAGAG	NONE	.	.	hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2,Superfamily_domains:SSF52540	.	.	ENSP00000387347	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000409907	Transcript	.	.	ENSG00000132321	26195	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQCA1_HUMAN	IQCA1	HGNC	Q53SG8_HUMAN	.	UPI000000DA5B	SNV	IQCA1,stop_gained,p.Lys510Ter,ENST00000309507,;IQCA1,stop_gained,p.Lys513Ter,ENST00000409907,;IQCA1,stop_gained,p.Lys533Ter,ENST00000418802,;IQCA1,stop_gained,p.Lys472Ter,ENST00000431676,;IQCA1,downstream_gene_variant,,ENST00000467572,;IQCA1,stop_gained,p.Lys514Ter,ENST00000254653,;	1812	43	42	SUCCESS
KCNK3	3777	.	GRCh37	2	26950553	26950553	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	91	0	ENST00000302909.3:c.302C>A	p.Pro101His	p.P101H	ENST00000302909	NM_002246.2	101	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1727.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCCAGCA	NONE	.	.	hmmpanther:PTHR11003:SF101,hmmpanther:PTHR11003,Pfam_domain:PF07885,Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01333	.	.	ENSP00000306275	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302909	Transcript	.	.	ENSG00000171303	6278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNK3_HUMAN	KCNK3	HGNC	B9EIJ4_HUMAN	.	UPI00000422B1	SNV	KCNK3,missense_variant,p.Pro101His,ENST00000302909,;	427	91	138	SUCCESS
CLIP4	79745	.	GRCh37	2	29355071	29355071	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	92	74	0	ENST00000320081.5:c.327T>A	p.Thr109=	p.T109=	ENST00000320081	NM_024692.4	109	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1770.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTCTTTT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32,PROSITE_profiles:PS50297	.	.	ENSP00000327009	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000320081	Transcript	.	.	ENSG00000115295	26108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLIP4_HUMAN	CLIP4	HGNC	Q53QT5_HUMAN,Q4ZFY2_HUMAN,E7EW06_HUMAN,C9IYE4_HUMAN,A8K6D0_HUMAN	.	UPI000006F0E8	SNV	CLIP4,synonymous_variant,p.%3D,ENST00000449202,;CLIP4,synonymous_variant,p.%3D,ENST00000320081,;CLIP4,synonymous_variant,p.%3D,ENST00000438819,;CLIP4,synonymous_variant,p.%3D,ENST00000404424,;CLIP4,synonymous_variant,p.%3D,ENST00000401617,;CLIP4,synonymous_variant,p.%3D,ENST00000401605,;CLIP4,downstream_gene_variant,,ENST00000471165,;CLIP4,synonymous_variant,p.%3D,ENST00000415891,;CLIP4,non_coding_transcript_exon_variant,,ENST00000491701,;CLIP4,intron_variant,,ENST00000456385,;	582	74	133	SUCCESS
EML4	27436	.	GRCh37	2	42556058	42556058	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	85	0	ENST00000318522.5:c.2374A>T	p.Ile792Phe	p.I792F	ENST00000318522	NM_019063.3	792	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS1807.1	2374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATCAAT	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000320663	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000318522	Transcript	.	.	ENSG00000143924	1316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	EMAL4_HUMAN	EML4	HGNC	F2Z2B5_HUMAN	.	UPI0000140350	SNV	EML4,missense_variant,p.Ile803Phe,ENST00000401738,;EML4,missense_variant,p.Ile792Phe,ENST00000318522,;EML4,missense_variant,p.Ile56Phe,ENST00000453191,;EML4,missense_variant,p.Ile734Phe,ENST00000402711,;COX7A2L,downstream_gene_variant,,ENST00000468711,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;	2636	85	75	SUCCESS
FSHR	2492	.	GRCh37	2	49190816	49190816	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	99	0	ENST00000406846.2:c.1144A>T	p.Ile382Leu	p.I382L	ENST00000406846	NM_000145.3	382	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS1843.1	1144	MUTECT|MUSE|VARSCANS	.	CACTATGATGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24372:SF5,hmmpanther:PTHR24372,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000384708	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000406846	Transcript	.	.	ENSG00000170820	3969	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.34)	.	FSHR_HUMAN	FSHR	HGNC	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN	.	UPI000013E97A	SNV	FSHR,missense_variant,p.Ile320Leu,ENST00000346173,;FSHR,missense_variant,p.Ile118Leu,ENST00000541117,;FSHR,missense_variant,p.Ile356Leu,ENST00000304421,;FSHR,missense_variant,p.Ile382Leu,ENST00000406846,;FSHR,downstream_gene_variant,,ENST00000454032,;	1264	99	137	SUCCESS
CHAC2	494143	.	GRCh37	2	53995015	53995015	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs748378061	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	23	36	0	ENST00000295304.4:c.-9C>A		p.*3*	ENST00000295304	NM_001008708.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33196.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGCGAG	NONE	.	.	.	.	.	ENSP00000295304	.	1/3	.	.	.	.	.	.	.	.	rs748378061	1/3	PASS	ENST00000295304	Transcript	.	.	ENSG00000143942	32363	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHAC2_HUMAN	CHAC2	HGNC	.	.	UPI000003616C	SNV	CHAC2,5_prime_UTR_variant,,ENST00000295304,;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000394717,;GPR75-ASB3,intron_variant,,ENST00000263634,;GPR75-ASB3,intron_variant,,ENST00000406687,;GPR75-ASB3,intron_variant,,ENST00000352846,;GPR75-ASB3,upstream_gene_variant,,ENST00000406053,;GPR75-ASB3,intron_variant,,ENST00000414369,;ASB3,intron_variant,,ENST00000459916,;GPR75-ASB3,intron_variant,,ENST00000482829,;ASB3,intron_variant,,ENST00000498475,;GPR75-ASB3,intron_variant,,ENST00000470916,;GPR75-ASB3,upstream_gene_variant,,ENST00000482134,;GPR75-ASB3,upstream_gene_variant,,ENST00000489508,;GPR75-ASB3,upstream_gene_variant,,ENST00000480522,;	87	36	39	SUCCESS
KIAA1841	84542	.	GRCh37	2	61333732	61333732	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771992978	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	36	122	0	ENST00000402291.1:c.1546A>T	p.Ile516Leu	p.I516L	ENST00000402291	NM_001129993.1	516	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS46296.1	1546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTATAGAA	NONE	byFrequency	.	hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946	.	.	ENSP00000385579	.	14/22	.	.	.	.	.	.	.	.	rs771992978	14/22	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.95)	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,missense_variant,p.Ile516Leu,ENST00000453873,;KIAA1841,missense_variant,p.Ile516Leu,ENST00000402291,;KIAA1841,missense_variant,p.Ile516Leu,ENST00000356719,;KIAA1841,missense_variant,p.Ile516Leu,ENST00000295031,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;	1787	122	139	SUCCESS
ARHGAP25	9938	.	GRCh37	2	69049979	69049979	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762206685	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	37	0	ENST00000409202.3:c.1708C>A	p.Gln570Lys	p.Q570K	ENST00000409202		570	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS33214.2	1708	MUTECT|MUSE	.	AGAAGCAAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Gene3D:1f5nA01,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF4	.	.	ENSP00000386911	.	10/11	.	.	.	.	.	.	.	.	rs762206685	10/11	PASS	ENST00000409202	Transcript	.	.	ENSG00000163219	28951	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.94)	.	RHG25_HUMAN	ARHGAP25	HGNC	C9JB56_HUMAN	.	UPI0000251EDD	SNV	ARHGAP25,missense_variant,p.Gln562Lys,ENST00000409030,;ARHGAP25,missense_variant,p.Gln570Lys,ENST00000409202,;ARHGAP25,missense_variant,p.Gln530Lys,ENST00000467265,;ARHGAP25,missense_variant,p.Gln569Lys,ENST00000295381,;ARHGAP25,missense_variant,p.Gln429Lys,ENST00000497259,;ARHGAP25,missense_variant,p.Gln563Lys,ENST00000409220,;ARHGAP25,missense_variant,p.Gln263Lys,ENST00000479844,;ARHGAP25,downstream_gene_variant,,ENST00000497079,;ARHGAP25,downstream_gene_variant,,ENST00000473986,;	2073	37	55	SUCCESS
CNGA3	1261	.	GRCh37	2	99013420	99013420	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	55	0	ENST00000272602.2:c.1787A>T	p.Lys596Met	p.K596M	ENST00000272602		596	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS2034.1	1787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAAGGCCC	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390,PROSITE_profiles:PS50042	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0.01)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Lys600Met,ENST00000409937,;CNGA3,missense_variant,p.Lys578Met,ENST00000436404,;CNGA3,missense_variant,p.Lys596Met,ENST00000393504,;CNGA3,missense_variant,p.Lys596Met,ENST00000272602,;	2204	55	72	SUCCESS
RP11-702L6.4	0	.	GRCh37	3	109136694	109136694	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	57	0	ENST00000497996.1:n.333C>A		p.*111*	ENST00000497996				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCATTCA	NONE	.	.	.	.	.	.	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000497996	Transcript	.	.	ENSG00000228980	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-702L6.4	Clone_based_vega_gene	.	.	.	SNV	RP11-702L6.4,non_coding_transcript_exon_variant,,ENST00000497996,;RP11-702L6.4,non_coding_transcript_exon_variant,,ENST00000489670,;	333	57	71	SUCCESS
KIAA2018	0	.	GRCh37	3	113377186	113377186	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	76	0	ENST00000316407.4:c.3343A>T	p.Asn1115Tyr	p.N1115Y	ENST00000316407	NM_001009899.2	1115	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS43133.1	3343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATTGCTGG	NONE	.	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,missense_variant,p.Asn1115Tyr,ENST00000478658,;KIAA2018,missense_variant,p.Asn1115Tyr,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	3754	77	63	SUCCESS
CD86	942	.	GRCh37	3	121810486	121810486	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	32	33	0	ENST00000330540.2:c.53T>A	p.Phe18Tyr	p.F18Y	ENST00000330540	NM_175862.4	18	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS3009.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTTCCTGC	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF203	.	.	ENSP00000332049	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000330540	Transcript	.	.	ENSG00000114013	1705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.14)	.	CD86_HUMAN	CD86	HGNC	C9JXS1_HUMAN	.	UPI00001AFC7C	SNV	CD86,missense_variant,p.Phe18Tyr,ENST00000330540,;CD86,missense_variant,p.Phe12Tyr,ENST00000482356,;CD86,missense_variant,p.Phe12Tyr,ENST00000393627,;CD86,missense_variant,p.Phe14Tyr,ENST00000478741,;CD86,missense_variant,p.Phe18Tyr,ENST00000493101,;CD86,missense_variant,p.Phe18Tyr,ENST00000264468,;CD86,intron_variant,,ENST00000469710,;CD86,non_coding_transcript_exon_variant,,ENST00000483949,;CD86,non_coding_transcript_exon_variant,,ENST00000478390,;	169	33	45	SUCCESS
CHST13	166012	.	GRCh37	3	126260677	126260677	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	55	0	ENST00000319340.2:c.282G>C	p.Glu94Asp	p.E94D	ENST00000319340	NM_152889.2	94	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS3039.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGAGGACCT	NONE	.	.	hmmpanther:PTHR12137:SF31,hmmpanther:PTHR12137	.	.	ENSP00000317404	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319340	Transcript	.	.	ENSG00000180767	21755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.46)	.	CHSTD_HUMAN	CHST13	HGNC	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN	.	UPI00000492E5	SNV	CHST13,missense_variant,p.Glu94Asp,ENST00000319340,;C3orf22,intron_variant,,ENST00000505070,;	332	55	69	SUCCESS
IQSEC1	9922	.	GRCh37	3	12957128	12957128	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	53	0	ENST00000273221.4:c.2168A>T	p.Gln723Leu	p.Q723L	ENST00000273221	NM_014869.5	723	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33703.1	2168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGCACC	NONE	.	.	hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663	.	.	ENSP00000273221	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000273221	Transcript	.	.	ENSG00000144711	29112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.14)	.	IQEC1_HUMAN	IQSEC1	HGNC	.	.	UPI00003E1F36	SNV	IQSEC1,missense_variant,p.Gln709Leu,ENST00000429247,;IQSEC1,missense_variant,p.Gln723Leu,ENST00000273221,;IQSEC1,missense_variant,p.Gln724Leu,ENST00000450726,;	2385	53	57	SUCCESS
C3orf58	0	.	GRCh37	3	143708415	143708415	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	72	0	ENST00000315691.3:c.1025G>T	p.Cys342Phe	p.C342F	ENST00000315691	NM_173552.3	342	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS3130.1	1025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTGCTTAT	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6,Pfam_domain:PF12260	.	.	ENSP00000320081	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,missense_variant,p.Cys148Phe,ENST00000492452,;C3orf58,missense_variant,p.Cys342Phe,ENST00000315691,;C3orf58,missense_variant,p.Cys133Phe,ENST00000495414,;C3orf58,missense_variant,p.Cys104Phe,ENST00000441925,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,downstream_gene_variant,,ENST00000483808,;	1560	72	87	SUCCESS
C3orf58	0	.	GRCh37	3	143708416	143708416	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	72	0	ENST00000315691.3:c.1026C>G	p.Cys342Trp	p.C342W	ENST00000315691	NM_173552.3	342	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS3130.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGCTTATC	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6,Pfam_domain:PF12260	.	.	ENSP00000320081	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,missense_variant,p.Cys148Trp,ENST00000492452,;C3orf58,missense_variant,p.Cys342Trp,ENST00000315691,;C3orf58,missense_variant,p.Cys133Trp,ENST00000495414,;C3orf58,missense_variant,p.Cys104Trp,ENST00000441925,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,downstream_gene_variant,,ENST00000483808,;	1561	72	88	SUCCESS
KCNMB2	10242	.	GRCh37	3	178543411	178543411	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	38	72	0	ENST00000358316.3:c.92T>A	p.Leu31Gln	p.L31Q	ENST00000358316		31	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3223.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGGACA	NONE	.	.	Gene3D:1jo6A00,Pfam_domain:PF09303,hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF5	.	.	ENSP00000407592	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000432997	Transcript	.	.	ENSG00000197584	6286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.09)	.	KCMB2_HUMAN	KCNMB2	HGNC	E7ETM2_HUMAN,E7EM81_HUMAN,B7Z513_HUMAN,B5BNW5_HUMAN	.	UPI0000073DCA	SNV	KCNMB2,missense_variant,p.Leu31Gln,ENST00000455865,;KCNMB2,missense_variant,p.Leu31Gln,ENST00000452583,;KCNMB2,missense_variant,p.Leu31Gln,ENST00000358316,;KCNMB2,missense_variant,p.Leu31Gln,ENST00000432997,;KCNMB2,missense_variant,p.Leu31Gln,ENST00000437510,;KCNMB2,missense_variant,p.Leu31Gln,ENST00000420517,;RP11-385J1.2,intron_variant,,ENST00000451742,;RP11-385J1.2,intron_variant,,ENST00000425330,;RP11-385J1.2,intron_variant,,ENST00000437488,;RP11-385J1.2,intron_variant,,ENST00000432385,;KCNMB2,downstream_gene_variant,,ENST00000436247,;KCNMB2,downstream_gene_variant,,ENST00000470361,;KCNMB2,3_prime_UTR_variant,,ENST00000422927,;	444	72	71	SUCCESS
ARPP21	10777	.	GRCh37	3	35771014	35771014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	50	80	0	ENST00000187397.4:c.1445T>A	p.Leu482His	p.L482H	ENST00000187397	NM_016300.4	482	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS58823.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTTAATC	NONE	.	.	hmmpanther:PTHR15672:SF14,hmmpanther:PTHR15672	.	.	ENSP00000414351	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000458225	Transcript	.	.	ENSG00000172995	16968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.646)	.	deleterious(0)	.	ARP21_HUMAN	ARPP21	HGNC	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN	.	UPI0000209B3D	SNV	ARPP21,missense_variant,p.Leu428His,ENST00000337271,;ARPP21,missense_variant,p.Leu448His,ENST00000417925,;ARPP21,missense_variant,p.Leu448His,ENST00000458225,;ARPP21,missense_variant,p.Leu255His,ENST00000425289,;ARPP21,missense_variant,p.Leu482His,ENST00000187397,;ARPP21,missense_variant,p.Leu428His,ENST00000444190,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476327,;ARPP21,missense_variant,p.Leu140His,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,downstream_gene_variant,,ENST00000481854,;	1568	80	85	SUCCESS
FBXW12	285231	.	GRCh37	3	48420926	48420926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	76	0	ENST00000296438.5:c.652C>A	p.Leu218Met	p.L218M	ENST00000296438	NM_207102.2	218	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS2764.1	652	MUTECT|MUSE	.	TTACACTGCCT	NONE	.	.	hmmpanther:PTHR22844:SF113,hmmpanther:PTHR22844,Gene3D:2.130.10.10,Superfamily_domains:SSF50969	.	.	ENSP00000296438	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000296438	Transcript	.	.	ENSG00000164049	20729	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.915)	.	tolerated(0.17)	.	FBW12_HUMAN	FBXW12	HGNC	C9JK86_HUMAN	.	UPI00004123F1	SNV	FBXW12,missense_variant,p.Leu199Met,ENST00000445170,;FBXW12,missense_variant,p.Leu61Met,ENST00000436231,;FBXW12,missense_variant,p.Leu218Met,ENST00000296438,;FBXW12,missense_variant,p.Leu148Met,ENST00000415155,;RN7SL321P,upstream_gene_variant,,ENST00000581742,;FBXW12,upstream_gene_variant,,ENST00000468158,;FBXW12,non_coding_transcript_exon_variant,,ENST00000477542,;	838	76	63	SUCCESS
AMIGO3	386724	.	GRCh37	3	49756155	49756179	+	frameshift_variant	Frame_Shift_Del	DEL	CTCGCGCGCAAAGTCGCGCACGGCG	CTCGCGCGCAAAGTCGCGCACGGCG	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	CTCGCGCGCAAAGTCGCGCACGGCG	CTCGCGCGCAAAGTCGCGCACGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	71	0	ENST00000320431.7:c.720_744del	p.Ala241ThrfsTer33	p.A241Tfs*33	ENST00000320431	NM_198722.2	240	agCGCCGTGCGCGACTTTGCGCGCGAG/ag	0	.	.	.	.	.	-	SAVRDFARE/X	protein_coding	YES	CCDS33759.1	720-744	INDELOCATOR*|VARSCANI*|PINDEL	.	TACGTACTCGCGCGCAAAGTCGCGCACGGCGCTCAG	NONE	.	.	hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF62	.	.	ENSP00000439268	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000535833	Transcript	.	.	ENSG00000176020	24075	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMGO3_HUMAN	AMIGO3	HGNC	.	.	UPI00000622D6	deletion	AMIGO3,frameshift_variant,p.Ala241ThrfsTer33,ENST00000320431,;AMIGO3,frameshift_variant,p.Ala241ThrfsTer33,ENST00000535833,;GMPPB,3_prime_UTR_variant,,ENST00000480687,;RNF123,intron_variant,,ENST00000327697,;RNF123,intron_variant,,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,;GMPPB,downstream_gene_variant,,ENST00000308388,;RNF123,intron_variant,,ENST00000497099,;RNF123,intron_variant,,ENST00000487805,;RNF123,intron_variant,,ENST00000457726,;RNF123,intron_variant,,ENST00000486102,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000444689,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;	4171-4195	71	69	SUCCESS
CDHR4	389118	.	GRCh37	3	49831234	49831234	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	91	145	0	ENST00000412678.2:c.1483+2T>A		p.X495_splice	ENST00000412678	NM_001007540.2	495		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46829.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTACCGCT	NONE	.	.	.	.	.	ENSP00000391409	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	HIGH	11/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,splice_donor_variant,,ENST00000412678,;CDHR4,downstream_gene_variant,,ENST00000487256,;CDHR4,downstream_gene_variant,,ENST00000343366,;CDHR4,upstream_gene_variant,,ENST00000487666,;CDHR4,upstream_gene_variant,,ENST00000462108,;CDHR4,upstream_gene_variant,,ENST00000460430,;	.	145	152	SUCCESS
CDHR4	389118	.	GRCh37	3	49836807	49836807	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	89	0	ENST00000412678.2:c.113A>C	p.Gln38Pro	p.Q38P	ENST00000412678	NM_001007540.2	38	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS46829.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTGAAGG	NONE	.	.	.	.	.	ENSP00000391409	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.23)	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,missense_variant,p.Gln38Pro,ENST00000487256,;CDHR4,missense_variant,p.Gln38Pro,ENST00000343366,;CDHR4,missense_variant,p.Gln38Pro,ENST00000412678,;FAM212A,upstream_gene_variant,,ENST00000333323,;	122	89	88	SUCCESS
BAP1	8314	.	GRCh37	3	52439294	52439294	+	synonymous_variant	Silent	SNP	C	C	T	rs776898908	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	41	0	ENST00000460680.1:c.948G>A	p.Ala316=	p.A316=	ENST00000460680	NM_004656.3	316	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2853.1	948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCGCCTC	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	11/17	.	.	.	.	.	.	.	.	rs776898908	11/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,synonymous_variant,p.%3D,ENST00000296288,;BAP1,synonymous_variant,p.%3D,ENST00000460680,;BAP1,upstream_gene_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	1420	41	40	SUCCESS
FLNB	2317	.	GRCh37	3	58095360	58095360	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	25	107	0	ENST00000295956.4:c.2257G>C	p.Glu753Gln	p.E753Q	ENST00000295956	NM_001457.3	753	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS54599.1	2257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGAGAGA	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	15/47	.	.	.	.	.	.	.	.	.	15/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	tolerated(0.13)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Glu753Gln,ENST00000429972,;FLNB,missense_variant,p.Glu753Gln,ENST00000295956,;FLNB,missense_variant,p.Glu753Gln,ENST00000348383,;FLNB,missense_variant,p.Glu584Gln,ENST00000493452,;FLNB,missense_variant,p.Glu753Gln,ENST00000358537,;FLNB,missense_variant,p.Glu753Gln,ENST00000490882,;FLNB,missense_variant,p.Glu584Gln,ENST00000419752,;FLNB,missense_variant,p.Glu753Gln,ENST00000357272,;	2422	107	114	SUCCESS
TMF1	7110	.	GRCh37	3	69084229	69084229	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	50	69	0	ENST00000398559.2:c.2189A>T	p.Gln730Leu	p.Q730L	ENST00000398559		730	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS43105.1	2189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTTGTTCT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285	.	.	ENSP00000381567	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000398559	Transcript	.	.	ENSG00000144747	11870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0.03)	.	TMF1_HUMAN	TMF1	HGNC	.	.	UPI000013D9A7	SNV	TMF1,missense_variant,p.Gln730Leu,ENST00000398559,;TMF1,missense_variant,p.Gln733Leu,ENST00000543976,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000601511,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000596732,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000599467,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000598783,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,downstream_gene_variant,,ENST00000597366,;CTD-2013N24.2,upstream_gene_variant,,ENST00000596274,;TMF1,missense_variant,p.Gln730Leu,ENST00000488010,;	2406	69	83	SUCCESS
LHFPL4	375323	.	GRCh37	3	9594117	9594130	+	frameshift_variant	Frame_Shift_Del	DEL	CGGTGAAGGAGCCC	CGGTGAAGGAGCCC	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	CGGTGAAGGAGCCC	CGGTGAAGGAGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	102	0	ENST00000287585.6:c.234_247del	p.Gly79LeufsTer65	p.G79Lfs*65	ENST00000287585	NM_198560.2	78	cgGGGCTCCTTCACCGac/cgac	0	.	.	.	.	.	-	RGSFTD/RX	protein_coding	YES	CCDS33691.1	234-247	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAGTCGGTGAAGGAGCCCCGGCA	NONE	.	.	hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF14,Pfam_domain:PF10242	.	.	ENSP00000287585	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000287585	Transcript	.	.	ENSG00000156959	29568	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LHPL4_HUMAN	LHFPL4	HGNC	.	.	UPI000019B16A	deletion	LHFPL4,frameshift_variant,p.Gly79LeufsTer65,ENST00000287585,;LHFPL4,downstream_gene_variant,,ENST00000498277,;LHFPL4,upstream_gene_variant,,ENST00000495730,;	520-533	102	92	SUCCESS
CRYBG3	131544	.	GRCh37	3	97605567	97605567	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	147	276	0	ENST00000182096.4:c.1401A>G	p.Glu467=	p.E467=	ENST00000182096	NM_153605.3	467	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	.	1401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAACTGAA	NONE	.	.	hmmpanther:PTHR11818:SF38,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695	.	.	ENSP00000182096	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000182096	Transcript	.	.	ENSG00000080200	34427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRBG3_HUMAN	CRYBG3	HGNC	.	.	UPI00006E232D	SNV	CRYBG3,synonymous_variant,p.%3D,ENST00000182096,;	1465	276	274	SUCCESS
OR5K1	26339	.	GRCh37	3	98188430	98188430	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	51	73	0	ENST00000332650.5:c.10G>T	p.Glu4Ter	p.E4*	ENST00000332650	NM_001004736.2	4	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43115.1	10	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGAAAAT	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000373193	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332650	Transcript	.	.	ENSG00000232382	8349	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5K1_HUMAN	OR5K1	HGNC	.	.	UPI000013F5A3	SNV	OR5K1,stop_gained,p.Glu4Ter,ENST00000332650,;	107	73	92	SUCCESS
DDIT4L	115265	.	GRCh37	4	101109256	101109256	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	34	0	ENST00000273990.2:c.160T>A	p.Cys54Ser	p.C54S	ENST00000273990	NM_145244.3	54	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS34036.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAAGTTG	NONE	.	.	hmmpanther:PTHR12478:SF17,hmmpanther:PTHR12478	.	.	ENSP00000354830	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000273990	Transcript	.	.	ENSG00000145358	30555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.01)	.	DDT4L_HUMAN	DDIT4L	HGNC	D6RJ99_HUMAN,D6RD49_HUMAN	.	UPI000004919B	SNV	DDIT4L,missense_variant,p.Cys54Ser,ENST00000502763,;DDIT4L,missense_variant,p.Cys54Ser,ENST00000513992,;DDIT4L,missense_variant,p.Cys54Ser,ENST00000273990,;RP11-15B17.1,intron_variant,,ENST00000515026,;RP11-588P8.1,upstream_gene_variant,,ENST00000515782,;	375	34	59	SUCCESS
NEUROG2	63973	.	GRCh37	4	113436007	113436007	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs759546122	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	23	0	ENST00000313341.3:c.625T>G	p.Ser209Ala	p.S209A	ENST00000313341	NM_024019.3	209	Tcg/Gcg	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS3698.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGAGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19290:SF87,hmmpanther:PTHR19290	.	.	ENSP00000317333	.	2/2	.	.	.	.	.	.	.	.	rs759546122	2/2	PASS	ENST00000313341	Transcript	.	.	ENSG00000178403	13805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	tolerated(0.07)	.	NGN2_HUMAN	NEUROG2	HGNC	.	.	UPI000006ED59	SNV	NEUROG2,missense_variant,p.Ser209Ala,ENST00000313341,;RP11-402J6.1,upstream_gene_variant,,ENST00000504009,;RP11-402J6.1,upstream_gene_variant,,ENST00000506057,;	952	23	43	SUCCESS
NAA15	80155	.	GRCh37	4	140264113	140264113	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	93	273	0	ENST00000296543.5:c.536A>T	p.Gln179Leu	p.Q179L	ENST00000296543	NM_057175.3	179	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS43270.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACAGGTAA	NONE	.	.	Superfamily_domains:SSF48452,PIRSF_domain:PIRSF000422,Gene3D:1.25.40.10,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF4,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000296543	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000296543	Transcript	1	.	ENSG00000164134	30782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.08)	.	NAA15_HUMAN	NAA15	HGNC	.	.	UPI000004B631	SNV	NAA15,missense_variant,p.Gln179Leu,ENST00000296543,;NAA15,missense_variant,p.Gln179Leu,ENST00000398947,;NAA15,splice_region_variant,,ENST00000480277,;NAA15,downstream_gene_variant,,ENST00000482087,;	859	273	212	SUCCESS
TMEM144	55314	.	GRCh37	4	159161486	159161486	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	30	103	0	ENST00000296529.6:c.718T>A	p.Phe240Ile	p.F240I	ENST00000296529	NM_018342.4	240	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS3799.1	718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCTTTCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16119:SF12,hmmpanther:PTHR16119,Pfam_domain:PF07857,Superfamily_domains:0043518	.	.	ENSP00000296529	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000296529	Transcript	.	.	ENSG00000164124	25633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0.03)	.	TM144_HUMAN	TMEM144	HGNC	D6RDN8_HUMAN,D6RDF9_HUMAN,D6RCA2_HUMAN,D6RAX5_HUMAN,D6R9U5_HUMAN,D6R9I0_HUMAN	.	UPI0000140BEC	SNV	TMEM144,missense_variant,p.Phe240Ile,ENST00000296529,;TMEM144,downstream_gene_variant,,ENST00000508243,;TMEM144,non_coding_transcript_exon_variant,,ENST00000503404,;TMEM144,3_prime_UTR_variant,,ENST00000511532,;TMEM144,non_coding_transcript_exon_variant,,ENST00000512272,;	1238	103	105	SUCCESS
PALLD	23022	.	GRCh37	4	169432856	169432856	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	59	209	0	ENST00000505667.1:c.201T>A	p.Ile67=	p.I67=	ENST00000505667		67	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54818.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATTTTCAG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152	.	.	ENSP00000425556	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000505667	Transcript	1	.	ENSG00000129116	17068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALLD_HUMAN	PALLD	HGNC	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN	.	UPI000189A85C	SNV	PALLD,synonymous_variant,p.%3D,ENST00000508898,;PALLD,synonymous_variant,p.%3D,ENST00000261509,;PALLD,synonymous_variant,p.%3D,ENST00000505667,;PALLD,5_prime_UTR_variant,,ENST00000333488,;PALLD,5_prime_UTR_variant,,ENST00000335742,;PALLD,downstream_gene_variant,,ENST00000511948,;DDX60L,intron_variant,,ENST00000512958,;DDX60L,intron_variant,,ENST00000505150,;	374	209	219	SUCCESS
AC108142.1	0	.	GRCh37	4	183063581	183063581	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	37	0	ENST00000315302.2:n.1482T>A		p.*494*	ENST00000315302				0	.	.	.	.	.	T	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCACTTCT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000315302	Transcript	.	.	ENSG00000177822	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC108142.1	Clone_based_vega_gene	.	.	.	SNV	TENM3,upstream_gene_variant,,ENST00000512480,;AC108142.1,non_coding_transcript_exon_variant,,ENST00000505873,;AC108142.1,non_coding_transcript_exon_variant,,ENST00000315302,;AC108142.1,intron_variant,,ENST00000509012,;AC108142.1,intron_variant,,ENST00000513752,;RP11-402C9.1,upstream_gene_variant,,ENST00000505389,;AC108142.1,downstream_gene_variant,,ENST00000508968,;AC108142.1,downstream_gene_variant,,ENST00000511052,;TENM3,upstream_gene_variant,,ENST00000513201,;	1482	37	50	SUCCESS
PTTG2	10744	.	GRCh37	4	37962314	37962314	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	81	115	0	ENST00000504686.1:c.259A>T	p.Ser87Cys	p.S87C	ENST00000504686	NM_006607.2	87	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS54755.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAAGCTTT	NONE	.	.	hmmpanther:PTHR10418,Pfam_domain:PF04856	.	.	ENSP00000424261	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000504686	Transcript	.	.	ENSG00000250254	9691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	tolerated(0.64)	.	PTTG2_HUMAN	PTTG2	HGNC	.	.	UPI000020AF94	SNV	PTTG2,missense_variant,p.Ser87Cys,ENST00000504686,;TBC1D1,intron_variant,,ENST00000261439,;TBC1D1,intron_variant,,ENST00000508802,;TBC1D1,intron_variant,,ENST00000510573,;AC021106.1,non_coding_transcript_exon_variant,,ENST00000455272,;	259	115	131	SUCCESS
GABRG1	2565	.	GRCh37	4	46086010	46086010	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	95	348	0	ENST00000295452.4:c.314T>C	p.Ile105Thr	p.I105T	ENST00000295452	NM_173536.3	105	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3470.1	314	RADIA|MUTECT|MUSE	.	TATTAATTGGA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000295452	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.19)	.	tolerated(0.42)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Ile105Thr,ENST00000295452,;	482	348	388	SUCCESS
SPATA18	132671	.	GRCh37	4	52945910	52945910	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	41	1	ENST00000295213.4:c.1180G>T	p.Asp394Tyr	p.D394Y	ENST00000295213	NM_145263.2	394	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS3489.1	1180	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGATGTG	NONE	.	.	hmmpanther:PTHR21771:SF0,hmmpanther:PTHR21771	.	.	ENSP00000295213	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000295213	Transcript	.	.	ENSG00000163071	29579	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MIEAP_HUMAN	SPATA18	HGNC	.	.	UPI000006FB0D	SNV	SPATA18,missense_variant,p.Asp394Tyr,ENST00000295213,;SPATA18,missense_variant,p.Asp362Tyr,ENST00000419395,;SPATA18,downstream_gene_variant,,ENST00000514670,;SPATA18,missense_variant,p.Asp394Tyr,ENST00000505320,;SPATA18,splice_region_variant,,ENST00000511028,;SPATA18,splice_region_variant,,ENST00000510549,;	1554	42	60	SUCCESS
EVC2	132884	.	GRCh37	4	5564738	5564738	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	60	0	ENST00000344408.5:c.3764T>A	p.Val1255Glu	p.V1255E	ENST00000344408	NM_147127.4	1255	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS3382.2	3764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTACAGGG	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	tolerated(0.13)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Val1175Glu,ENST00000310917,;EVC2,missense_variant,p.Val1255Glu,ENST00000344408,;EVC2,intron_variant,,ENST00000344938,;EVC2,3_prime_UTR_variant,,ENST00000509670,;EVC2,intron_variant,,ENST00000475313,;	3818	60	92	SUCCESS
FTLP10	100130017	.	GRCh37	4	69078179	69078179	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	82	240	0	ENST00000503647.1:n.1492A>T		p.*498*	ENST00000503647		9		0	.	.	.	.	.	T	C/S	protein_coding	YES	.	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACAGGAAG	NONE	.	.	hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5	.	.	ENSP00000391149	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000432593	Transcript	.	.	ENSG00000226894	37262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.45)	.	TM11L_HUMAN	TMPRSS11BNL	HGNC	.	.	UPI0000251F2C	SNV	TMPRSS11BNL,missense_variant,p.Cys9Ser,ENST00000432593,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000504453,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000510782,;FTLP10,non_coding_transcript_exon_variant,,ENST00000503647,;RP11-646E20.6,intron_variant,,ENST00000511720,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000514295,;	192	240	266	SUCCESS
FRAS1	80144	.	GRCh37	4	79461941	79461941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	78	141	0	ENST00000264895.6:c.11702A>T	p.Gln3901Leu	p.Q3901L	ENST00000264895	NM_025074.6	3901	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS54771.1	11702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACAGACTG	NONE	.	.	.	.	.	ENSP00000264895	.	74/74	.	.	.	.	.	.	.	.	.	74/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.623)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Gln2130Leu,ENST00000512123,;FRAS1,missense_variant,p.Gln3901Leu,ENST00000264895,;	12142	141	134	SUCCESS
BMPR1B	658	.	GRCh37	4	96052479	96052479	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373000965	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	41	156	0	ENST00000264568.4:c.892G>A	p.Ala298Thr	p.A298T	ENST00000264568	NM_001256794.1	298	Gct/Act	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS58919.1	982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGACGCTAAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF62,hmmpanther:PTHR23255,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	A:0.0001	ENSP00000401907	.	8/11	.	.	.	.	.	.	.	.	rs373000965	8/11	PASS	ENST00000440890	Transcript	1	.	ENSG00000138696	1077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	BMR1B_HUMAN	BMPR1B	HGNC	D6RGW8_HUMAN	.	UPI00017A7CB9	SNV	BMPR1B,missense_variant,p.Ala328Thr,ENST00000440890,;BMPR1B,missense_variant,p.Ala298Thr,ENST00000264568,;BMPR1B,missense_variant,p.Ala298Thr,ENST00000509540,;BMPR1B,missense_variant,p.Ala298Thr,ENST00000512312,;BMPR1B,missense_variant,p.Ala298Thr,ENST00000394931,;BMPR1B,missense_variant,p.Ala298Thr,ENST00000515059,;	1003	156	137	SUCCESS
FBXL17	64839	.	GRCh37	5	107356642	107356642	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	51	0	ENST00000542267.1:c.1806T>A	p.Cys602Ter	p.C602*	ENST00000542267	NM_001163315.2	602	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS54886.1	1806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTACAGGA	NONE	.	.	hmmpanther:PTHR23125:SF250,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000437464	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000542267	Transcript	.	.	ENSG00000145743	13615	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL17_HUMAN	FBXL17	HGNC	.	.	UPI00019B21FB	SNV	FBXL17,stop_gained,p.Cys602Ter,ENST00000542267,;FBXL17,stop_gained,p.Cys204Ter,ENST00000496714,;FBXL17,stop_gained,p.Cys204Ter,ENST00000359660,;FBXL17,non_coding_transcript_exon_variant,,ENST00000481160,;	2213	51	67	SUCCESS
SLC12A7	10723	.	GRCh37	5	1094313	1094313	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	42	66	0	ENST00000264930.5:c.175G>A	p.Glu59Lys	p.E59K	ENST00000264930	NM_006598.2	59	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34129.1	175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTCCACCT	NONE	.	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	deleterious(0.04)	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,missense_variant,p.Glu59Lys,ENST00000264930,;	219	66	129	SUCCESS
KCNN2	3781	.	GRCh37	5	113698375	113698375	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	14	0	ENST00000264773.3:c.-98C>G		p.*33*	ENST00000264773	NM_001278204.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4114.1	.	MUTECT|MUSE	.	CGGGCCCCCGC	NONE	.	.	.	.	.	ENSP00000427120	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000512097	Transcript	.	.	ENSG00000080709	6291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNN2_HUMAN	KCNN2	HGNC	.	.	UPI000013D56A	SNV	KCNN2,5_prime_UTR_variant,,ENST00000512097,;KCNN2,5_prime_UTR_variant,,ENST00000264773,;KCNN2,upstream_gene_variant,,ENST00000507750,;	921	14	16	SUCCESS
LOX	4015	.	GRCh37	5	121405851	121405851	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	22	105	0	ENST00000231004.4:c.1144C>T	p.Pro382Ser	p.P382S	ENST00000231004	NM_002317.5	382	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS4129.1	1144	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGGTTTA	NONE	.	.	Prints_domain:PR00074,Pfam_domain:PF01186,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF3	.	.	ENSP00000231004	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000231004	Transcript	.	.	ENSG00000113083	6664	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	LYOX_HUMAN	LOX	HGNC	D0PNI2_HUMAN,Q71V04_HUMAN,B7ZAJ4_HUMAN,B4DN04_HUMAN,B0AZT2_HUMAN	.	UPI000012EA87	SNV	LOX,missense_variant,p.Pro382Ser,ENST00000231004,;LOX,non_coding_transcript_exon_variant,,ENST00000505593,;LOX,non_coding_transcript_exon_variant,,ENST00000513319,;SRFBP1,intron_variant,,ENST00000504881,;LOX,non_coding_transcript_exon_variant,,ENST00000503759,;LOX,downstream_gene_variant,,ENST00000508067,;	1444	105	162	SUCCESS
SLC25A48	153328	.	GRCh37	5	135188444	135188444	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763713066	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	19	120	0	ENST00000412661.2:c.355G>C	p.Gly119Arg	p.G119R	ENST00000412661	NM_145282.4	119	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS43366.2	355	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGGGCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF229,hmmpanther:PTHR24089,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926	.	.	ENSP00000413049	.	4/5	.	.	.	.	.	.	.	.	rs763713066	4/5	PASS	ENST00000412661	Transcript	.	.	ENSG00000145832	30451	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.29)	.	S2548_HUMAN	SLC25A48	HGNC	.	.	UPI000006FF97	SNV	SLC25A48,missense_variant,p.Gly119Arg,ENST00000420621,;SLC25A48,missense_variant,p.Gly65Arg,ENST00000433282,;SLC25A48,missense_variant,p.Gly119Arg,ENST00000412661,;SLC25A48,missense_variant,p.Gly119Arg,ENST00000274513,;SLC25A48,intron_variant,,ENST00000425402,;SLC25A48,3_prime_UTR_variant,,ENST00000462340,;	476	120	183	SUCCESS
TRPC7	57113	.	GRCh37	5	135651437	135651437	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	64	64	0	ENST00000513104.1:c.811A>C	p.Lys271Gln	p.K271Q	ENST00000513104	NM_020389.2	271	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS47267.2	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTGCATT	NONE	.	.	TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Lys271Gln,ENST00000502753,;TRPC7,missense_variant,p.Lys271Gln,ENST00000513104,;TRPC7,intron_variant,,ENST00000355180,;TRPC7,intron_variant,,ENST00000352189,;TRPC7,intron_variant,,ENST00000378459,;TRPC7,intron_variant,,ENST00000426057,;TRPC7-AS2,non_coding_transcript_exon_variant,,ENST00000513958,;TRPC7,missense_variant,p.Lys271Gln,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	1094	64	123	SUCCESS
HNRNPA0	10949	.	GRCh37	5	137089993	137089993	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	240	55	154	0	ENST00000314940.4:c.-238C>G		p.*80*	ENST00000314940	NM_006805.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4193.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGGCCAC	NONE	.	.	.	.	.	ENSP00000316042	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314940	Transcript	.	.	ENSG00000177733	5030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ROA0_HUMAN	HNRNPA0	HGNC	.	.	UPI0000000C1D	SNV	HNRNPA0,5_prime_UTR_variant,,ENST00000314940,;	47	154	295	SUCCESS
PCDHA13	56136	.	GRCh37	5	140262151	140262151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	28	103	0	ENST00000289272.2:c.298G>A	p.Ala100Thr	p.A100T	ENST00000289272	NM_018904.2	100	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4240.1	298	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCGGAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF08266,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated_low_confidence(0.05)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Ala100Thr,ENST00000289272,;PCDHA13,missense_variant,p.Ala100Thr,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	298	103	167	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140744468	140744468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	69	89	0	ENST00000518069.1:c.571T>A	p.Tyr191Asn	p.Y191N	ENST00000518069	NM_018918.2	191	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS54925.1	571	RADIA|MUTECT|MUSE	.	AAAAGTATCCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.31)	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,missense_variant,p.Tyr191Asn,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;	571	89	170	SUCCESS
PCDHGA12	26025	.	GRCh37	5	140811636	140811636	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs572724741	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	15	88	0	ENST00000252085.3:c.1310A>G	p.His437Arg	p.H437R	ENST00000252085	NM_003735.2	437	cAt/cGt	0	.	G:0	.	G:0	.	G	H/R	protein_coding	YES	CCDS4260.1	1310	RADIA|MUTECT|MUSE|VARSCANS	.	AACTCATATCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	G:0	.	ENSP00000252085	G:0	1/4	.	.	.	.	.	.	.	.	rs572724741	1/4	common_in_exac	ENST00000252085	Transcript	.	G:0.0014	ENSG00000253159	8699	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.309)	G:0.0072	deleterious_low_confidence(0.04)	.	PCDGC_HUMAN	PCDHGA12	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073EA1	SNV	PCDHGA12,missense_variant,p.His437Arg,ENST00000252085,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	1452	88	137	SUCCESS
PRELID2	153768	.	GRCh37	5	145197614	145197614	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	19	61	0	ENST00000334744.4:c.247A>T	p.Ser83Cys	p.S83C	ENST00000334744	NM_182960.2	83	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS34262.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTCACCT	NONE	.	.	PROSITE_profiles:PS50904,hmmpanther:PTHR11158,hmmpanther:PTHR11158:SF20,Pfam_domain:PF04707	.	.	ENSP00000335675	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000334744	Transcript	.	.	ENSG00000186314	28306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.01)	.	PRLD2_HUMAN	PRELID2	HGNC	.	.	UPI000006FB14	SNV	PRELID2,missense_variant,p.Ser42Cys,ENST00000394450,;PRELID2,missense_variant,p.Ser71Cys,ENST00000358004,;PRELID2,missense_variant,p.Ser83Cys,ENST00000334744,;PRELID2,missense_variant,p.Ser71Cys,ENST00000505416,;PRELID2,missense_variant,p.Ser71Cys,ENST00000511435,;PRELID2,downstream_gene_variant,,ENST00000515475,;	300	61	104	SUCCESS
GABRP	2568	.	GRCh37	5	170232776	170232776	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs79061387	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	96	0	ENST00000265294.4:c.598C>A	p.Arg200Ser	p.R200S	ENST00000265294	NM_014211.2	200	Cgt/Agt	0	T:0	T:0	.	T:0.0058	.	A	R/S	protein_coding	YES	CCDS4375.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCGTGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF470,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	T:0	T:0.0001	ENSP00000430100	T:0.001	8/11	.	.	.	.	.	.	.	.	rs79061387,COSM3429274	8/11	PASS	ENST00000518525	Transcript	.	T:0.0010	ENSG00000094755	4089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.768)	T:0	tolerated(0.5)	0,1	GBRP_HUMAN	GABRP	HGNC	E5RK74_HUMAN,E5RHU0_HUMAN,E5RHF6_HUMAN,E5RGF7_HUMAN,E5RG98_HUMAN	.	UPI000003C534	SNV	GABRP,missense_variant,p.Arg200Ser,ENST00000519385,;GABRP,missense_variant,p.Arg200Ser,ENST00000265294,;GABRP,missense_variant,p.Arg200Ser,ENST00000519598,;GABRP,missense_variant,p.Arg200Ser,ENST00000518525,;GABRP,downstream_gene_variant,,ENST00000522868,;	1062	96	125	SUCCESS
FAM153B	202134	.	GRCh37	5	175520195	175520195	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	189	129	1	ENST00000253490.4:c.260-3T>A		p.X87_splice	ENST00000253490		87		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43401.2	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCTCCTAGTTG	NONE	.	.	.	.	.	ENSP00000427684	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000515817	Transcript	.	.	ENSG00000182230	27323	.	.	LOW	3/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FAM153B	HGNC	H0YL08_HUMAN,D6RF84_HUMAN,D6RA46_HUMAN	.	UPI00001D7EF3	SNV	FAM153B,splice_region_variant,,ENST00000253490,;FAM153B,splice_region_variant,,ENST00000503724,;FAM153B,splice_region_variant,,ENST00000512862,;FAM153B,splice_region_variant,,ENST00000515817,;FAM153B,splice_region_variant,,ENST00000510151,;FAM153B,splice_region_variant,,ENST00000393522,;FAM153B,splice_region_variant,,ENST00000503533,;FAM153B,splice_region_variant,,ENST00000508296,;FAM153B,downstream_gene_variant,,ENST00000513938,;FAM153B,downstream_gene_variant,,ENST00000511680,;FAM153B,downstream_gene_variant,,ENST00000514235,;FAM153B,downstream_gene_variant,,ENST00000507409,;	.	130	247	SUCCESS
GPRIN1	114787	.	GRCh37	5	176024938	176024938	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	41	38	0	ENST00000303991.4:c.1898A>T	p.Gln633Leu	p.Q633L	ENST00000303991	NM_052899.2	633	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4405.1	1898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTGCGGC	NONE	.	.	hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30	.	.	ENSP00000305839	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303991	Transcript	.	.	ENSG00000169258	24835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.09)	.	GRIN1_HUMAN	GPRIN1	HGNC	.	.	UPI0000246D49	SNV	GPRIN1,missense_variant,p.Gln633Leu,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000261944,;CDHR2,downstream_gene_variant,,ENST00000506348,;CDHR2,downstream_gene_variant,,ENST00000510636,;	2076	38	66	SUCCESS
LRRC14B	389257	.	GRCh37	5	192291	192291	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	76	77	0	ENST00000328278.3:c.638T>A	p.Leu213Gln	p.L213Q	ENST00000328278	NM_001080478.1	213	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS47184.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGCGCA	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF27,Superfamily_domains:SSF52047	.	.	ENSP00000327675	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000328278	Transcript	.	.	ENSG00000185028	37268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	LR14B_HUMAN	LRRC14B	HGNC	.	.	UPI0000237324	SNV	LRRC14B,missense_variant,p.Leu213Gln,ENST00000328278,;CCDC127,downstream_gene_variant,,ENST00000296824,;PLEKHG4B,downstream_gene_variant,,ENST00000283426,;CTD-2083E4.7,upstream_gene_variant,,ENST00000563761,;	666	77	151	SUCCESS
FYB	0	.	GRCh37	5	39202189	39202189	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	82	1	ENST00000540520.1:c.904A>T	p.Lys302Ter	p.K302*	ENST00000540520	NM_001243093.1	302	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS58945.1	904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTAGCAG	NONE	.	.	hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF10	.	.	ENSP00000442840	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000540520	Transcript	.	.	ENSG00000082074	4036	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FYB_HUMAN	FYB	HGNC	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	.	UPI00017A75FB	SNV	FYB,stop_gained,p.Lys292Ter,ENST00000515010,;FYB,stop_gained,p.Lys292Ter,ENST00000351578,;FYB,stop_gained,p.Lys292Ter,ENST00000505428,;FYB,stop_gained,p.Lys302Ter,ENST00000540520,;FYB,stop_gained,p.Lys292Ter,ENST00000512982,;FYB,downstream_gene_variant,,ENST00000512138,;FYB,downstream_gene_variant,,ENST00000506557,;FYB,downstream_gene_variant,,ENST00000510188,;FYB,downstream_gene_variant,,ENST00000509072,;FYB,downstream_gene_variant,,ENST00000504542,;	990	83	126	SUCCESS
MAST4	375449	.	GRCh37	5	66430418	66430418	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	47	95	0	ENST00000403625.2:c.2294A>G	p.Asp765Gly	p.D765G	ENST00000403625	NM_001164664.1	765	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54861.1	2294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGACTGGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139,PROSITE_profiles:PS50011	.	.	ENSP00000385727	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Asp576Gly,ENST00000403666,;MAST4,missense_variant,p.Asp768Gly,ENST00000404260,;MAST4,missense_variant,p.Asp571Gly,ENST00000261569,;MAST4,missense_variant,p.Asp586Gly,ENST00000405643,;MAST4,missense_variant,p.Asp765Gly,ENST00000403625,;	2589	95	114	SUCCESS
MAST4	375449	.	GRCh37	5	66462123	66462123	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	19	74	0	ENST00000403625.2:c.7116G>T	p.Lys2372Asn	p.K2372N	ENST00000403625	NM_001164664.1	2372	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS54861.1	7116	RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAGAAATG	NONE	.	.	.	.	.	ENSP00000385727	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.777)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Lys2183Asn,ENST00000403666,;MAST4,missense_variant,p.Lys2375Asn,ENST00000404260,;MAST4,missense_variant,p.Lys1429Asn,ENST00000443808,;MAST4,missense_variant,p.Lys2178Asn,ENST00000261569,;MAST4,missense_variant,p.Lys2193Asn,ENST00000405643,;MAST4,missense_variant,p.Lys2372Asn,ENST00000403625,;	7411	74	123	SUCCESS
MAP1B	4131	.	GRCh37	5	71500918	71500918	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	127	164	0	ENST00000296755.7:c.7259T>A	p.Leu2420Gln	p.L2420Q	ENST00000296755	NM_005909.3	2420	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4012.1	7259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACTGATCC	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Leu2420Gln,ENST00000296755,;	7557	164	254	SUCCESS
MCTP1	79772	.	GRCh37	5	94275891	94275891	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs777016909	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	40	70	0	ENST00000515393.1:c.1070A>T	p.Asp357Val	p.D357V	ENST00000515393	NM_024717.4	357	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS34203.1	1070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACATCTGTG	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	5/23	.	.	.	.	.	.	.	.	rs777016909	5/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,missense_variant,p.Asp136Val,ENST00000505208,;MCTP1,missense_variant,p.Asp118Val,ENST00000507214,;MCTP1,missense_variant,p.Asp357Val,ENST00000515393,;MCTP1,missense_variant,p.Asp18Val,ENST00000512425,;MCTP1,missense_variant,p.Asp117Val,ENST00000514780,;MCTP1,missense_variant,p.Asp166Val,ENST00000503301,;MCTP1,missense_variant,p.Asp136Val,ENST00000429576,;MCTP1,missense_variant,p.Asp136Val,ENST00000312216,;MCTP1,missense_variant,p.Asp136Val,ENST00000508509,;MCTP1,downstream_gene_variant,,ENST00000510732,;MCTP1,upstream_gene_variant,,ENST00000506568,;MCTP1,downstream_gene_variant,,ENST00000513695,;MCTP1,downstream_gene_variant,,ENST00000512568,;	1070	70	73	SUCCESS
SPATA9	83890	.	GRCh37	5	95018538	95018538	+	synonymous_variant	Silent	SNP	C	C	T	rs373326650	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	6	97	0	ENST00000274432.8:c.21G>A	p.Gly7=	p.G7=	ENST00000274432	NM_031952.3	7	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4076.1	21	MUTECT|MUSE	.	ATCCACCCAAC	NONE	.	.	.	.	.	ENSP00000274432	.	1/5	.	.	.	.	.	.	.	.	rs373326650	1/5	PASS	ENST00000274432	Transcript	.	.	ENSG00000145757	22988	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPAT9_HUMAN	SPATA9	HGNC	.	.	UPI000000DBD8	SNV	SPATA9,synonymous_variant,p.%3D,ENST00000395899,;SPATA9,synonymous_variant,p.%3D,ENST00000274432,;SPATA9,non_coding_transcript_exon_variant,,ENST00000477047,;RFESD,intron_variant,,ENST00000508206,;SPATA9,intron_variant,,ENST00000379990,;SPATA9,synonymous_variant,p.%3D,ENST00000489917,;SPATA9,synonymous_variant,p.%3D,ENST00000316087,;SPATA9,synonymous_variant,p.%3D,ENST00000477715,;	163	97	147	SUCCESS
ASCC3	10973	.	GRCh37	6	101054670	101054670	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	84	0	ENST00000369162.2:c.4990G>T	p.Gly1664Ter	p.G1664*	ENST00000369162	NM_006828.2	1664	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS5046.1	4990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCCTTAA	BUFFER|p.T1665I|c.4994C>T|3	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000358159	.	32/42	.	.	.	.	.	.	.	.	.	32/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,stop_gained,p.Gly1664Ter,ENST00000369162,;	5335	84	64	SUCCESS
ASCC3	10973	.	GRCh37	6	101054671	101054671	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	83	0	ENST00000369162.2:c.4989G>T	p.Lys1663Asn	p.K1663N	ENST00000369162	NM_006828.2	1663	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5046.1	4989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCTTAAT	BUFFER|p.T1665I|c.4994C>T|3	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000358159	.	32/42	.	.	.	.	.	.	.	.	.	32/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Lys1663Asn,ENST00000369162,;	5334	83	64	SUCCESS
FOXQ1	94234	.	GRCh37	6	1313560	1313560	+	synonymous_variant	Silent	SNP	G	G	T	rs760032738	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	51	72	0	ENST00000296839.2:c.621G>T	p.Gly207=	p.G207=	ENST00000296839	NM_033260.3	207	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4471.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGGGTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF60,hmmpanther:PTHR11829,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785	.	.	ENSP00000296839	.	1/1	.	.	.	.	.	.	.	.	rs760032738	1/1	PASS	ENST00000296839	Transcript	.	.	ENSG00000164379	20951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXQ1_HUMAN	FOXQ1	HGNC	.	.	UPI000013E397	SNV	FOXQ1,synonymous_variant,p.%3D,ENST00000296839,;	886	72	102	SUCCESS
OPRM1	4988	.	GRCh37	6	154412441	154412441	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	94	1	ENST00000330432.7:c.998T>C	p.Leu333Pro	p.L333P	ENST00000330432	NM_000914.3	333	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47503.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTCAACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000394624	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Leu333Pro,ENST00000337049,;OPRM1,missense_variant,p.Leu333Pro,ENST00000428397,;OPRM1,missense_variant,p.Leu333Pro,ENST00000360422,;OPRM1,missense_variant,p.Leu333Pro,ENST00000452687,;OPRM1,missense_variant,p.Leu333Pro,ENST00000330432,;OPRM1,missense_variant,p.Leu333Pro,ENST00000435918,;OPRM1,missense_variant,p.Leu252Pro,ENST00000518759,;OPRM1,missense_variant,p.Leu333Pro,ENST00000414028,;OPRM1,missense_variant,p.Leu333Pro,ENST00000419506,;OPRM1,missense_variant,p.Leu426Pro,ENST00000434900,;OPRM1,missense_variant,p.Leu333Pro,ENST00000524163,;OPRM1,missense_variant,p.Leu233Pro,ENST00000522236,;OPRM1,missense_variant,p.Leu233Pro,ENST00000520708,;OPRM1,missense_variant,p.Leu233Pro,ENST00000522555,;OPRM1,missense_variant,p.Leu333Pro,ENST00000229768,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Leu333Pro,ENST00000522739,;OPRM1,missense_variant,p.Leu333Pro,ENST00000519083,;OPRM1,3_prime_UTR_variant,,ENST00000524150,;	1795	95	91	SUCCESS
T	0	.	GRCh37	6	166580321	166580321	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	42	51	0	ENST00000296946.2:c.230T>A	p.Val77Glu	p.V77E	ENST00000296946	NM_003181.3	77	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS5290.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCACCTTC	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937	.	.	ENSP00000296946	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,missense_variant,p.Val77Glu,ENST00000461348,;T,missense_variant,p.Val77Glu,ENST00000366876,;T,missense_variant,p.Val77Glu,ENST00000366871,;T,missense_variant,p.Val77Glu,ENST00000296946,;	699	51	48	SUCCESS
MBOAT1	154141	.	GRCh37	6	20131376	20131376	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs774806715	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	66	0	ENST00000324607.7:c.474T>C		p.X158_splice	ENST00000324607	NM_001080480.2	158	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS34346.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCATCATG	NONE	byFrequency	.	hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906,Pfam_domain:PF03062	.	.	ENSP00000324944	.	5/13	.	.	.	.	.	.	.	.	rs774806715	5/13	PASS	ENST00000324607	Transcript	.	.	ENSG00000172197	21579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBOA1_HUMAN	MBOAT1	HGNC	.	.	UPI000020D5D0	SNV	MBOAT1,synonymous_variant,p.%3D,ENST00000536798,;MBOAT1,synonymous_variant,p.%3D,ENST00000324607,;MBOAT1,intron_variant,,ENST00000541730,;	639	66	65	SUCCESS
ZSCAN12	9753	.	GRCh37	6	28359478	28359478	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	26	21	0	ENST00000361028.1:c.589C>T	p.Gln197Ter	p.Q197*	ENST00000361028		197	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGCTTTA	NONE	.	.	hmmpanther:PTHR23226:SF19,hmmpanther:PTHR23226	.	.	ENSP00000354305	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000361028	Transcript	.	.	ENSG00000158691	13172	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSC12_HUMAN	ZSCAN12	HGNC	.	.	UPI000013C353	SNV	ZSCAN12,stop_gained,p.Gln197Ter,ENST00000396827,;ZSCAN12,stop_gained,p.Gln197Ter,ENST00000361028,;	735	21	35	SUCCESS
ZSCAN12	9753	.	GRCh37	6	28359479	28359479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	27	21	0	ENST00000361028.1:c.588G>T	p.Lys196Asn	p.K196N	ENST00000361028		196	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	.	588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCTTTAA	NONE	.	.	hmmpanther:PTHR23226:SF19,hmmpanther:PTHR23226	.	.	ENSP00000354305	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000361028	Transcript	.	.	ENSG00000158691	13172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.14)	.	ZSC12_HUMAN	ZSCAN12	HGNC	.	.	UPI000013C353	SNV	ZSCAN12,missense_variant,p.Lys196Asn,ENST00000396827,;ZSCAN12,missense_variant,p.Lys196Asn,ENST00000361028,;	734	21	35	SUCCESS
GPX6	257202	.	GRCh37	6	28472123	28472123	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	84	0	ENST00000361902.1:c.612C>T	p.Val204=	p.V204=	ENST00000361902	NM_182701.1	204	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43432.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGACTGG	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000303,Gene3D:3.40.30.10,hmmpanther:PTHR11592:SF15,hmmpanther:PTHR11592,PROSITE_profiles:PS51355	.	.	ENSP00000354581	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361902	Transcript	.	.	ENSG00000198704	4558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPX6_HUMAN	GPX6	HGNC	A3KN74_HUMAN	.	UPI00001B2975	SNV	GPX6,missense_variant,p.Ser171Leu,ENST00000474923,;GPX6,synonymous_variant,p.%3D,ENST00000361902,;GPX6,downstream_gene_variant,,ENST00000483058,;	662	84	90	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31106509	31106509	+	synonymous_variant	Silent	SNP	C	C	T	rs1288132906	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	67	0	ENST00000259881.9:c.120C>T	p.His40=	p.H40=	ENST00000259881	NM_014068.2	40	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS34390.1	120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCACGTTAA	NONE	.	.	Pfam_domain:PF15357	.	.	ENSP00000259881	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000259881	Transcript	.	.	ENSG00000204540	17202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PS1C1_HUMAN	PSORS1C1	HGNC	Q2M3K9_HUMAN,D2IYL0_HUMAN	.	UPI00004702D2	SNV	PSORS1C1,synonymous_variant,p.%3D,ENST00000259881,;PSORS1C1,5_prime_UTR_variant,,ENST00000547221,;PSORS1C1,intron_variant,,ENST00000481450,;PSORS1C2,intron_variant,,ENST00000259845,;CCHCR1,downstream_gene_variant,,ENST00000451521,;CCHCR1,downstream_gene_variant,,ENST00000396263,;CCHCR1,downstream_gene_variant,,ENST00000396268,;CCHCR1,downstream_gene_variant,,ENST00000376266,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000552747,;PSORS1C1,downstream_gene_variant,,ENST00000550838,;CCHCR1,downstream_gene_variant,,ENST00000467553,;CCHCR1,downstream_gene_variant,,ENST00000486060,;POLR2LP,upstream_gene_variant,,ENST00000444785,;	409	67	77	SUCCESS
FOXP4	116113	.	GRCh37	6	41566593	41566593	+	synonymous_variant	Silent	SNP	G	G	C	rs1350107458	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	60	184	0	ENST00000307972.4:c.1962G>C	p.Leu654=	p.L654=	ENST00000307972		654	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS34447.1	1962	RADIA|SOMATICSNIPER|VARSCANS	.	CCCCTGGGCGC	NONE	.	.	hmmpanther:PTHR25042:SF13,hmmpanther:PTHR25042	.	.	ENSP00000362151	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000373060	Transcript	.	.	ENSG00000137166	20842	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXP4_HUMAN	FOXP4	HGNC	Q8N4A5_HUMAN,Q69YN9_HUMAN	.	UPI000007462D	SNV	FOXP4,synonymous_variant,p.%3D,ENST00000373063,;FOXP4,synonymous_variant,p.%3D,ENST00000307972,;FOXP4,synonymous_variant,p.%3D,ENST00000409208,;FOXP4,synonymous_variant,p.%3D,ENST00000373057,;FOXP4,synonymous_variant,p.%3D,ENST00000373060,;MIR4641,downstream_gene_variant,,ENST00000578353,;	2420	184	147	SUCCESS
MEP1A	4224	.	GRCh37	6	46803136	46803136	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	62	0	ENST00000230588.4:c.1934A>T	p.Gln645Leu	p.Q645L	ENST00000230588	NM_005588.2	645	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4918.1	1934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGGGGC	NONE	.	.	PIRSF_domain:PIRSF001196	.	.	ENSP00000230588	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000230588	Transcript	.	.	ENSG00000112818	7015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.28)	.	MEP1A_HUMAN	MEP1A	HGNC	.	.	UPI000006E4E9	SNV	MEP1A,missense_variant,p.Gln645Leu,ENST00000230588,;	1943	62	90	SUCCESS
PTCHD4	442213	.	GRCh37	6	47869646	47869646	+	intron_variant	Intron	SNP	G	G	A	rs768122326	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	33	41	0	ENST00000339488.4:c.908-21974C>T		p.*303*	ENST00000339488	NM_001013732.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34473.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGCTTGA	NONE	.	.	.	.	.	ENSP00000341914	.	.	.	.	.	.	.	.	.	.	rs768122326	.	PASS	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,synonymous_variant,p.%3D,ENST00000543600,;PTCHD4,synonymous_variant,p.%3D,ENST00000398738,;PTCHD4,intron_variant,,ENST00000339488,;	.	41	56	SUCCESS
IL17A	3605	.	GRCh37	6	52053894	52053894	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	63	0	ENST00000340057.1:c.272A>T	p.Glu91Val	p.E91V	ENST00000340057	NM_002190.2	91	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4937.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAGGCAA	NONE	.	.	hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF2,Gene3D:2.10.90.10,Pfam_domain:PF06083,Superfamily_domains:SSF57501,Prints_domain:PR01932	.	.	ENSP00000344192	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340057	Transcript	.	.	ENSG00000112115	5981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	IL17_HUMAN	IL17A	HGNC	D9MX03_HUMAN	.	UPI0000047D95	SNV	IL17A,missense_variant,p.Glu91Val,ENST00000340057,;	317	63	100	SUCCESS
EYS	346007	.	GRCh37	6	66115107	66115107	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs149421359	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	116	166	0	ENST00000370616.2:c.1016T>C	p.Val339Ala	p.V339A	ENST00000370616		339	gTa/gCa	0	G:0	.	.	.	.	G	V/A	protein_coding	YES	CCDS47445.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTACTAAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,Gene3D:2.10.25.10,SMART_domains:SM00181	.	G:0.0001	ENSP00000424243	.	6/43	.	.	.	.	.	.	.	.	rs149421359	6/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.54)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Val339Ala,ENST00000342421,;EYS,missense_variant,p.Val339Ala,ENST00000393380,;EYS,missense_variant,p.Val339Ala,ENST00000370616,;EYS,missense_variant,p.Val339Ala,ENST00000370618,;EYS,missense_variant,p.Val339Ala,ENST00000370621,;EYS,missense_variant,p.Val339Ala,ENST00000503581,;	1554	166	230	SUCCESS
COL12A1	1303	.	GRCh37	6	75799957	75799957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	43	0	ENST00000322507.8:c.8810G>T	p.Ser2937Ile	p.S2937I	ENST00000322507	NM_004370.5	2937	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS43482.1	8810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGACTGGAC	NONE	.	.	hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992	.	.	ENSP00000325146	.	63/66	.	.	.	.	.	.	.	.	.	63/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Ser2861Ile,ENST00000416123,;COL12A1,missense_variant,p.Ser2937Ile,ENST00000322507,;COL12A1,missense_variant,p.Ser575Ile,ENST00000425443,;COL12A1,missense_variant,p.Ser2933Ile,ENST00000483888,;COL12A1,missense_variant,p.Ser1773Ile,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000511023,;	9120	43	53	SUCCESS
MUC17	140453	.	GRCh37	7	100676405	100676405	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs748611024	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	66	0	ENST00000306151.4:c.1708A>T	p.Thr570Ser	p.T570S	ENST00000306151	NM_001040105.1	570	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS34711.1	1708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCACTCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	rs748611024	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Thr570Ser,ENST00000306151,;MUC17,missense_variant,p.Thr570Ser,ENST00000379439,;	1772	66	50	SUCCESS
FBXL13	222235	.	GRCh37	7	102603993	102603993	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	43	0	ENST00000313221.4:c.711T>A	p.Thr237=	p.T237=	ENST00000313221	NM_145032.3	237	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5726.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAAGTTTT	NONE	.	.	hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF219,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000321927	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000313221	Transcript	.	.	ENSG00000161040	21658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL13_HUMAN	FBXL13	HGNC	.	.	UPI000020F830	SNV	FBXL13,synonymous_variant,p.%3D,ENST00000379306,;FBXL13,synonymous_variant,p.%3D,ENST00000393772,;FBXL13,synonymous_variant,p.%3D,ENST00000456695,;FBXL13,synonymous_variant,p.%3D,ENST00000313221,;FBXL13,synonymous_variant,p.%3D,ENST00000455112,;FBXL13,synonymous_variant,p.%3D,ENST00000379305,;FBXL13,synonymous_variant,p.%3D,ENST00000436908,;FBXL13,synonymous_variant,p.%3D,ENST00000379308,;FBXL13,non_coding_transcript_exon_variant,,ENST00000477915,;FBXL13,non_coding_transcript_exon_variant,,ENST00000471074,;FBXL13,synonymous_variant,p.%3D,ENST00000448002,;	1138	43	42	SUCCESS
LAMB1	3912	.	GRCh37	7	107635345	107635345	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	47	0	ENST00000222399.6:c.410T>G	p.Ile137Arg	p.I137R	ENST00000222399	NM_002291.2	137	aTa/aGa	0	.	.	.	.	.	C	I/R	protein_coding	YES	CCDS5750.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTATGAGA	NONE	.	.	PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136	.	.	ENSP00000222399	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	SNV	LAMB1,missense_variant,p.Ile161Arg,ENST00000393561,;LAMB1,missense_variant,p.Ile137Arg,ENST00000393560,;LAMB1,missense_variant,p.Ile137Arg,ENST00000222399,;LAMB1,downstream_gene_variant,,ENST00000393559,;LAMB1,downstream_gene_variant,,ENST00000439976,;U3,downstream_gene_variant,,ENST00000458938,;	641	47	38	SUCCESS
LMOD2	442721	.	GRCh37	7	123303032	123303032	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	54	137	0	ENST00000458573.2:c.1392A>G	p.Lys464=	p.K464=	ENST00000458573	NM_207163.1	464	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47693.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAACAACA	NONE	.	.	hmmpanther:PTHR10901:SF12,hmmpanther:PTHR10901	.	.	ENSP00000411932	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000458573	Transcript	.	.	ENSG00000170807	6648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMOD2_HUMAN	LMOD2	HGNC	B4DUL7_HUMAN	.	UPI0001572CCA	SNV	LMOD2,synonymous_variant,p.%3D,ENST00000458573,;LMOD2,intron_variant,,ENST00000456238,;	1549	137	118	SUCCESS
CALU	813	.	GRCh37	7	128407568	128407568	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	49	166	0	ENST00000249364.4:c.702A>T	p.Arg234=	p.R234=	ENST00000249364	NM_001219.4	234	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS56507.1	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGAGAGCA	NONE	.	.	hmmpanther:PTHR10827:SF34,hmmpanther:PTHR10827,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000438248	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000542996	Transcript	.	.	ENSG00000128595	1458	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALU_HUMAN	CALU	HGNC	.	.	UPI0001D27CDB	SNV	CALU,synonymous_variant,p.%3D,ENST00000449187,;CALU,synonymous_variant,p.%3D,ENST00000479257,;CALU,synonymous_variant,p.%3D,ENST00000538546,;CALU,synonymous_variant,p.%3D,ENST00000542996,;CALU,synonymous_variant,p.%3D,ENST00000493278,;CALU,synonymous_variant,p.%3D,ENST00000249364,;CALU,3_prime_UTR_variant,,ENST00000535623,;CALU,intron_variant,,ENST00000535011,;OPN1SW,downstream_gene_variant,,ENST00000249389,;	1669	166	109	SUCCESS
TNPO3	23534	.	GRCh37	7	128612495	128612495	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	58	0	ENST00000265388.5:c.2415A>T	p.Thr805=	p.T805=	ENST00000265388		805	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5809.1	2415	RADIA|MUTECT|MUSE	.	ACCCCTGTATG	NONE	.	.	hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF5,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000265388	.	19/23	.	.	.	.	.	.	.	.	COSM1568633,COSM1568634	19/23	PASS	ENST00000265388	Transcript	.	.	ENSG00000064419	17103	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	TNPO3_HUMAN	TNPO3	HGNC	E9PFH4_HUMAN,B3KMX1_HUMAN	.	UPI0000072FAB	SNV	TNPO3,synonymous_variant,p.%3D,ENST00000393245,;TNPO3,synonymous_variant,p.%3D,ENST00000471166,;TNPO3,synonymous_variant,p.%3D,ENST00000471234,;TNPO3,synonymous_variant,p.%3D,ENST00000482320,;TNPO3,synonymous_variant,p.%3D,ENST00000265388,;RN7SL306P,downstream_gene_variant,,ENST00000492941,;	2559	58	46	SUCCESS
ADCK2	90956	.	GRCh37	7	140373721	140373721	+	synonymous_variant	Silent	SNP	C	C	T	rs781749445	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	52	0	ENST00000072869.4:c.591C>T	p.Ile197=	p.I197=	ENST00000072869	NM_052853.3	197	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS5861.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCCTCTC	NONE	.	.	hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF6	.	.	ENSP00000072869	.	1/8	.	.	.	.	.	.	.	.	rs781749445	1/8	PASS	ENST00000072869	Transcript	.	.	ENSG00000133597	19039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCK2_HUMAN	ADCK2	HGNC	A4D1T6_HUMAN	.	UPI000003C962	SNV	ADCK2,synonymous_variant,p.%3D,ENST00000483369,;ADCK2,synonymous_variant,p.%3D,ENST00000476491,;ADCK2,synonymous_variant,p.%3D,ENST00000072869,;DENND2A,5_prime_UTR_variant,,ENST00000489552,;ADCK2,upstream_gene_variant,,ENST00000498423,;	769	52	33	SUCCESS
KEL	3792	.	GRCh37	7	142639612	142639612	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	50	0	ENST00000355265.2:c.1946A>G	p.Tyr649Cys	p.Y649C	ENST00000355265	NM_000420.2	649	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34766.1	1946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTATGCC	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486	.	.	ENSP00000347409	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000355265	Transcript	.	.	ENSG00000197993	6308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	KELL_HUMAN	KEL	HGNC	Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN	.	UPI000000D923	SNV	KEL,missense_variant,p.Tyr649Cys,ENST00000355265,;C7orf34,downstream_gene_variant,,ENST00000409607,;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000478969,;KEL,non_coding_transcript_exon_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;	2421	50	40	SUCCESS
IGF2BP3	10643	.	GRCh37	7	23391100	23391100	+	synonymous_variant	Silent	SNP	T	T	C	rs1372334315	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	37	0	ENST00000258729.3:c.507A>G	p.Arg169=	p.R169=	ENST00000258729	NM_006547.2	169	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS5382.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCTCGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92	.	.	ENSP00000258729	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000258729	Transcript	.	.	ENSG00000136231	28868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B3_HUMAN	IGF2BP3	HGNC	.	.	UPI0000117172	SNV	IGF2BP3,synonymous_variant,p.%3D,ENST00000258729,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000466809,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000492771,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468263,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000491719,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000465058,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000469723,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000479504,;IGF2BP3,upstream_gene_variant,,ENST00000497563,;IGF2BP3,downstream_gene_variant,,ENST00000474105,;IGF2BP3,3_prime_UTR_variant,,ENST00000421467,;IGF2BP3,upstream_gene_variant,,ENST00000467592,;IGF2BP3,upstream_gene_variant,,ENST00000480547,;	864	37	49	SUCCESS
PPP1R17	10842	.	GRCh37	7	31732136	31732136	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	38	69	0	ENST00000342032.3:c.81A>T	p.Leu27Phe	p.L27F	ENST00000342032	NM_006658.4	27	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS5436.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTAGGTAA	NONE	.	.	hmmpanther:PTHR15387:SF0,hmmpanther:PTHR15387	.	.	ENSP00000340125	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000342032	Transcript	.	.	ENSG00000106341	16973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.505)	.	deleterious_low_confidence(0.05)	.	PPR17_HUMAN	PPP1R17	HGNC	.	.	UPI000006D182	SNV	PPP1R17,missense_variant,p.Leu27Phe,ENST00000342032,;PPP1R17,missense_variant,p.Leu27Phe,ENST00000409146,;PPP1R17,upstream_gene_variant,,ENST00000498609,;	709	69	61	SUCCESS
DBNL	28988	.	GRCh37	7	44089828	44089828	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	77	0	ENST00000448521.1:c.88C>T	p.Leu30Phe	p.L30F	ENST00000448521	NM_001014436.2	30	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47579.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCTCTTT	NONE	.	.	PROSITE_profiles:PS51263,hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF12,Gene3D:3.40.20.10,Pfam_domain:PF00241,SMART_domains:SM00102,Superfamily_domains:SSF55753	.	.	ENSP00000417653	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000468694	Transcript	.	.	ENSG00000136279	2696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	DBNL_HUMAN	DBNL	HGNC	F2Z2V3_HUMAN	.	UPI000007147D	SNV	DBNL,missense_variant,p.Leu30Phe,ENST00000448521,;DBNL,missense_variant,p.Leu30Phe,ENST00000456905,;DBNL,missense_variant,p.Leu30Phe,ENST00000494774,;DBNL,missense_variant,p.Leu30Phe,ENST00000452943,;DBNL,missense_variant,p.Leu30Phe,ENST00000468694,;DBNL,5_prime_UTR_variant,,ENST00000490734,;DBNL,intron_variant,,ENST00000440166,;DBNL,upstream_gene_variant,,ENST00000432854,;DBNL,non_coding_transcript_exon_variant,,ENST00000497184,;DBNL,missense_variant,p.Leu30Phe,ENST00000464762,;DBNL,missense_variant,p.Ser37Phe,ENST00000485932,;DBNL,missense_variant,p.Ser45Phe,ENST00000441904,;DBNL,missense_variant,p.Ser45Phe,ENST00000498733,;DBNL,missense_variant,p.Leu30Phe,ENST00000429716,;DBNL,missense_variant,p.Leu30Phe,ENST00000411855,;DBNL,missense_variant,p.Leu30Phe,ENST00000441840,;DBNL,non_coding_transcript_exon_variant,,ENST00000423561,;DBNL,non_coding_transcript_exon_variant,,ENST00000439983,;DBNL,intron_variant,,ENST00000458579,;DBNL,intron_variant,,ENST00000439815,;	115	77	90	SUCCESS
NACAD	23148	.	GRCh37	7	45124713	45124713	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	37	91	0	ENST00000490531.2:c.1066A>T	p.Ser356Cys	p.S356C	ENST00000490531	NM_001146334.1	356	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS47582.1	1066	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCTGTCCT	NONE	.	.	hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713	.	.	ENSP00000420477	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Ser356Cys,ENST00000490531,;NACAD,upstream_gene_variant,,ENST00000460409,;	1086	91	129	SUCCESS
FBXO43	286151	.	GRCh37	8	101154393	101154393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	37	0	ENST00000428847.2:c.89C>A	p.Thr30Lys	p.T30K	ENST00000428847	NM_001029860.3	30	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS47904.1	89	MUTECT|MUSE	.	TCTCTGTTTCT	NONE	.	.	hmmpanther:PTHR15493:SF1,hmmpanther:PTHR15493	.	.	ENSP00000403293	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000428847	Transcript	.	.	ENSG00000156509	28521	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.22)	.	FBX43_HUMAN	FBXO43	HGNC	.	.	UPI000013DE8F	SNV	FBXO43,missense_variant,p.Thr30Lys,ENST00000428847,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,non_coding_transcript_exon_variant,,ENST00000520987,;	406	37	43	SUCCESS
RAD21	5885	.	GRCh37	8	117864283	117864305	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCTCCATCACTGACTCCTGGA	GGCCTCCATCACTGACTCCTGGA	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	GGCCTCCATCACTGACTCCTGGA	GGCCTCCATCACTGACTCCTGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	46	0	ENST00000297338.2:c.1352_1374del	p.Leu451GlnfsTer7	p.L451Qfs*7	ENST00000297338	NM_006265.2	451	cTCCAGGAGTCAGTGATGGAGGCC/c	0	.	.	.	.	.	-	LQESVMEA/X	protein_coding	YES	CCDS6321.1	1352-1374	VARSCANI*|PINDEL	.	TCTGCTGGCCTCCATCACTGACTCCTGGAGGCGG	NONE	.	.	hmmpanther:PTHR12585:SF20,hmmpanther:PTHR12585	.	.	ENSP00000297338	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000297338	Transcript	1	.	ENSG00000164754	9811	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAD21_HUMAN	RAD21	HGNC	E5RJW1_HUMAN,E5RJK5_HUMAN,E5RIN7_HUMAN,E5RI01_HUMAN,E5RG18_HUMAN,E5RFZ5_HUMAN,E5RFV8_HUMAN	.	UPI0000133018	deletion	RAD21,frameshift_variant,p.Leu451GlnfsTer7,ENST00000297338,;RAD21,coding_sequence_variant,,ENST00000518055,;RAD21,5_prime_UTR_variant,,ENST00000523986,;RAD21,upstream_gene_variant,,ENST00000517749,;UTP23,downstream_gene_variant,,ENST00000520733,;UTP23,downstream_gene_variant,,ENST00000517820,;UTP23,downstream_gene_variant,,ENST00000521703,;UTP23,downstream_gene_variant,,ENST00000524128,;	1640-1662	46	47	SUCCESS
KLHL38	340359	.	GRCh37	8	124658143	124658143	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs559948746	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	54	95	0	ENST00000325995.7:c.1582G>A	p.Gly528Arg	p.G528R	ENST00000325995	NM_001081675.2	528	Ggg/Agg	0	.	T:0	.	T:0	.	T	G/R	protein_coding	YES	CCDS43766.1	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCGCCCG	BUFFER|p.T526M|c.1577C>T|3	by1000G	.	Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Pfam_domain:PF01344,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412	T:0	.	ENSP00000321475	T:0	3/3	.	.	.	.	.	.	.	.	rs559948746	3/3	PASS	ENST00000325995	Transcript	.	T:0.0002	ENSG00000175946	34435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	T:0.001	deleterious(0)	.	KLH38_HUMAN	KLHL38	HGNC	.	.	UPI00001D82D1	SNV	KLHL38,missense_variant,p.Gly528Arg,ENST00000325995,;CTD-2552K11.2,intron_variant,,ENST00000524355,;	1606	95	99	SUCCESS
ANXA13	312	.	GRCh37	8	124693593	124693593	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs531775603	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	6	52	0	ENST00000419625.1:c.838C>A	p.Leu280Ile	p.L280I	ENST00000419625	NM_004306.2	280	Ctt/Att	0	.	T:0.0008	.	T:0	.	T	L/I	protein_coding	YES	CCDS34939.1	961	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGGTCCA	NONE	by1000G	.	hmmpanther:PTHR10502:SF105,hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874	T:0	.	ENSP00000262219	T:0	12/12	.	.	.	.	.	.	.	.	rs531775603	12/12	PASS	ENST00000262219	Transcript	.	T:0.0002	ENSG00000104537	536	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.668)	T:0	deleterious(0)	.	ANX13_HUMAN	ANXA13	HGNC	E5RIN3_HUMAN	.	UPI000016A41E	SNV	ANXA13,missense_variant,p.Leu321Ile,ENST00000262219,;ANXA13,missense_variant,p.Leu280Ile,ENST00000419625,;	1029	52	46	SUCCESS
FER1L6	654463	.	GRCh37	8	125072802	125072802	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373037712	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	72	0	ENST00000399018.1:c.2999G>T	p.Gly1000Val	p.G1000V	ENST00000399018		1000	gGa/gTa	0	T:0	.	.	.	.	T	G/V	protein_coding	YES	CCDS43767.1	2999	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGAGTTC	NONE	byCluster	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	T:0.0001	ENSP00000428280	.	24/41	.	.	.	.	.	.	.	.	rs373037712	24/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Gly1000Val,ENST00000522917,;FER1L6,missense_variant,p.Gly1000Val,ENST00000399018,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000601180,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000520031,;	3205	72	82	SUCCESS
MROH5	389690	.	GRCh37	8	142490470	142490470	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	41	68	0	ENST00000430863.1:c.829T>A	p.Trp277Arg	p.W277R	ENST00000430863	NM_207414.2	277	Tgg/Agg	0	.	.	.	.	.	T	.	nonsense_mediated_decay	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCAGCTGG	NONE	.	.	.	.	.	ENSP00000427945	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000523857	Transcript	.	.	ENSG00000226807	42976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MROH5	HGNC	E5RFU7_HUMAN	.	UPI0001E8F5FA	SNV	MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,missense_variant,p.Trp277Arg,ENST00000430863,;	869	68	73	SUCCESS
HSF1	3297	.	GRCh37	8	145533158	145533158	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	110	161	0	ENST00000528838.1:c.244G>T	p.Val82Phe	p.V82F	ENST00000528838	NM_005526.2	82	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS6419.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGTCCAC	NONE	.	.	hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF142,Pfam_domain:PF00447,Gene3D:1.10.10.10,SMART_domains:SM00415,Superfamily_domains:SSF46785	.	.	ENSP00000431512	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000528838	Transcript	.	.	ENSG00000185122	5224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	deleterious(0)	.	HSF1_HUMAN	HSF1	HGNC	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN	.	UPI0000000DE5	SNV	HSF1,missense_variant,p.Val17Phe,ENST00000400780,;HSF1,missense_variant,p.Val82Phe,ENST00000528838,;HSF1,missense_variant,p.Val17Phe,ENST00000533240,;HSF1,non_coding_transcript_exon_variant,,ENST00000528199,;HSF1,non_coding_transcript_exon_variant,,ENST00000534314,;HSF1,non_coding_transcript_exon_variant,,ENST00000529630,;HSF1,non_coding_transcript_exon_variant,,ENST00000528988,;HSF1,upstream_gene_variant,,ENST00000530661,;HSF1,upstream_gene_variant,,ENST00000533130,;HSF1,upstream_gene_variant,,ENST00000531447,;HSF1,upstream_gene_variant,,ENST00000528842,;HSF1,non_coding_transcript_exon_variant,,ENST00000532338,;HSF1,upstream_gene_variant,,ENST00000527328,;	404	161	188	SUCCESS
LRRC24	441381	.	GRCh37	8	145748008	145748008	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759034057	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	81	0	ENST00000529415.2:c.1393G>C	p.Glu465Gln	p.E465Q	ENST00000529415		465	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34969.1	1393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTCGTCGC	NONE	byFrequency	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255	.	.	ENSP00000434849	.	5/5	.	.	.	.	.	.	.	.	rs759034057	5/5	PASS	ENST00000529415	Transcript	.	.	ENSG00000254402	28947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious_low_confidence(0.01)	.	LRC24_HUMAN	LRRC24	HGNC	.	.	UPI0000419443	SNV	LRRC24,missense_variant,p.Glu465Gln,ENST00000529415,;LRRC24,missense_variant,p.Glu462Gln,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000525766,;C8orf82,downstream_gene_variant,,ENST00000524821,;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC14,downstream_gene_variant,,ENST00000529022,;RECQL4,upstream_gene_variant,,ENST00000428558,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;RECQL4,upstream_gene_variant,,ENST00000532237,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,upstream_gene_variant,,ENST00000529995,;RECQL4,upstream_gene_variant,,ENST00000532269,;C8orf82,downstream_gene_variant,,ENST00000534680,;RECQL4,upstream_gene_variant,,ENST00000534538,;LRRC14,downstream_gene_variant,,ENST00000531310,;	1511	81	74	SUCCESS
ZNF7	7553	.	GRCh37	8	146067697	146067697	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	36	0	ENST00000528372.1:c.1205C>T	p.Ala402Val	p.A402V	ENST00000528372		402	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6435.1	1205	MUTECT|MUSE	.	TGTTGCACATC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	tolerated(0.33)	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,missense_variant,p.Ala402Val,ENST00000528372,;ZNF7,missense_variant,p.Ala413Val,ENST00000446747,;ZNF7,missense_variant,p.Ala402Val,ENST00000325241,;ZNF7,missense_variant,p.Ala306Val,ENST00000544249,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	1445	36	37	SUCCESS
NPM2	10361	.	GRCh37	8	21891622	21891622	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	36	0	ENST00000289820.6:c.367G>T	p.Ala123Ser	p.A123S	ENST00000289820	NM_182795.1	123	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6018.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGCATCA	NONE	.	.	hmmpanther:PTHR22747,hmmpanther:PTHR22747:SF14,Gene3D:2.60.120.340,Pfam_domain:PF03066	.	.	ENSP00000381032	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000397940	Transcript	.	.	ENSG00000158806	7930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.69)	.	NPM2_HUMAN	NPM2	HGNC	E5RGN1_HUMAN,E5RFQ8_HUMAN	.	UPI000019A1BE	SNV	NPM2,missense_variant,p.Ala123Ser,ENST00000289820,;NPM2,missense_variant,p.Ala123Ser,ENST00000521157,;NPM2,missense_variant,p.Ala123Ser,ENST00000518119,;NPM2,missense_variant,p.Ala123Ser,ENST00000397940,;NPM2,missense_variant,p.Ala123Ser,ENST00000522813,;NPM2,intron_variant,,ENST00000381530,;NPM2,downstream_gene_variant,,ENST00000520125,;snoU13,downstream_gene_variant,,ENST00000459495,;NPM2,splice_region_variant,,ENST00000520180,;NPM2,splice_region_variant,,ENST00000522953,;NPM2,non_coding_transcript_exon_variant,,ENST00000520456,;NPM2,upstream_gene_variant,,ENST00000519373,;NPM2,upstream_gene_variant,,ENST00000524322,;	1382	36	59	SUCCESS
ANK1	286	.	GRCh37	8	41575622	41575622	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	20	0	ENST00000347528.4:c.1206+2T>A		p.X402_splice	ENST00000347528	NM_020477.2	402		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47849.1	.	RADIA|MUTECT|MUSE	.	CTCCTACCTCG	NONE	.	.	.	.	.	ENSP00000265709	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	HIGH	11/42	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,splice_donor_variant,,ENST00000265709,;ANK1,splice_donor_variant,,ENST00000352337,;ANK1,splice_donor_variant,,ENST00000396942,;ANK1,splice_donor_variant,,ENST00000379758,;ANK1,splice_donor_variant,,ENST00000289734,;ANK1,splice_donor_variant,,ENST00000347528,;ANK1,splice_donor_variant,,ENST00000396945,;	.	20	23	SUCCESS
ALDOB	229	.	GRCh37	9	104192125	104192125	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	27	132	0	ENST00000374855.4:c.236T>G	p.Leu79Arg	p.L79R	ENST00000374855	NM_000035.3	79	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS6756.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAAGGATC	NONE	.	.	Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2	.	.	ENSP00000363988	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000374855	Transcript	.	.	ENSG00000136872	417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ALDOB_HUMAN	ALDOB	HGNC	.	.	UPI000016A4A9	SNV	ALDOB,missense_variant,p.Leu79Arg,ENST00000374855,;ALDOB,non_coding_transcript_exon_variant,,ENST00000468981,;	361	133	138	SUCCESS
EPB41L4B	54566	.	GRCh37	9	111979288	111979288	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1045638372	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	80	0	ENST00000374566.3:c.1547A>G	p.His516Arg	p.H516R	ENST00000374566	NM_019114.3	516	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS43859.1	1547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23280:SF18,hmmpanther:PTHR23280	.	.	ENSP00000363694	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000374566	Transcript	.	.	ENSG00000095203	19818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.475)	.	tolerated(0.09)	.	E41LB_HUMAN	EPB41L4B	HGNC	.	.	UPI0000458994	SNV	EPB41L4B,missense_variant,p.His516Arg,ENST00000374566,;	2065	80	97	SUCCESS
MUSK	4593	.	GRCh37	9	113459680	113459680	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	44	116	0	ENST00000374448.4:c.562T>G	p.Tyr188Asp	p.Y188D	ENST00000374448	NM_005592.3	188	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS48005.1	562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGTATCGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835	.	.	ENSP00000363571	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,missense_variant,p.Tyr70Asp,ENST00000374440,;MUSK,missense_variant,p.Tyr188Asp,ENST00000374448,;MUSK,missense_variant,p.Tyr70Asp,ENST00000374439,;MUSK,missense_variant,p.Tyr188Asp,ENST00000189978,;MUSK,missense_variant,p.Tyr188Asp,ENST00000416899,;	696	116	144	SUCCESS
MUSK	4593	.	GRCh37	9	113459681	113459681	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	43	116	0	ENST00000374448.4:c.563A>T	p.Tyr188Phe	p.Y188F	ENST00000374448	NM_005592.3	188	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS48005.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTATCGAT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835	.	.	ENSP00000363571	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,missense_variant,p.Tyr70Phe,ENST00000374440,;MUSK,missense_variant,p.Tyr188Phe,ENST00000374448,;MUSK,missense_variant,p.Tyr70Phe,ENST00000374439,;MUSK,missense_variant,p.Tyr188Phe,ENST00000189978,;MUSK,missense_variant,p.Tyr188Phe,ENST00000416899,;	697	117	142	SUCCESS
LAMC3	10319	.	GRCh37	9	133936495	133936495	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	28	32	0	ENST00000361069.4:c.2232T>A	p.Pro744=	p.P744=	ENST00000361069	NM_006059.3	744	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6938.1	2232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCTTTCGC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,PROSITE_profiles:PS50027	.	.	ENSP00000354360	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,synonymous_variant,p.%3D,ENST00000361069,;LAMC3,intron_variant,,ENST00000480883,;	2365	32	38	SUCCESS
KCNT1	57582	.	GRCh37	9	138662770	138662770	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779639843	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	57	129	0	ENST00000488444.2:c.1780C>G	p.Arg594Gly	p.R594G	ENST00000488444		594	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS35175.2	1837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCGGCAC	NONE	byFrequency	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	18/31	.	.	.	.	.	.	.	.	rs779639843	18/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.16)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Arg574Gly,ENST00000486577,;KCNT1,missense_variant,p.Arg594Gly,ENST00000490355,;KCNT1,missense_variant,p.Arg594Gly,ENST00000263604,;KCNT1,missense_variant,p.Arg580Gly,ENST00000491806,;KCNT1,missense_variant,p.Arg613Gly,ENST00000298480,;KCNT1,missense_variant,p.Arg568Gly,ENST00000487664,;KCNT1,missense_variant,p.Arg613Gly,ENST00000371757,;KCNT1,missense_variant,p.Arg594Gly,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	1904	129	156	SUCCESS
EGFL7	51162	.	GRCh37	9	139562709	139562709	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	55	0	ENST00000308874.7:c.-26G>C		p.*9*	ENST00000308874				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7002.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGGCCAC	NONE	.	.	.	.	.	ENSP00000360764	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000371699	Transcript	.	.	ENSG00000172889	20594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFL7_HUMAN	EGFL7	HGNC	R4GMT3_HUMAN	.	UPI0000036A42	SNV	EGFL7,5_prime_UTR_variant,,ENST00000492862,;EGFL7,5_prime_UTR_variant,,ENST00000308874,;EGFL7,5_prime_UTR_variant,,ENST00000371698,;EGFL7,5_prime_UTR_variant,,ENST00000371699,;EGFL7,5_prime_UTR_variant,,ENST00000406555,;AGPAT2,downstream_gene_variant,,ENST00000371696,;AGPAT2,downstream_gene_variant,,ENST00000538402,;AGPAT2,downstream_gene_variant,,ENST00000371694,;MIR126,upstream_gene_variant,,ENST00000362291,;EGFL7,intron_variant,,ENST00000490469,;EGFL7,intron_variant,,ENST00000492002,;	886	55	54	SUCCESS
FOCAD	54914	.	GRCh37	9	20944683	20944683	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	68	0	ENST00000338382.6:c.3465A>T	p.Gln1155His	p.Q1155H	ENST00000338382		1155	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS34993.1	3465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAAATGCA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000369599	.	31/46	.	.	.	.	.	.	.	.	.	31/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.18)	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,missense_variant,p.Gln1155His,ENST00000380249,;FOCAD,missense_variant,p.Gln591His,ENST00000605086,;FOCAD,missense_variant,p.Gln1155His,ENST00000338382,;FOCAD,missense_variant,p.Gln88His,ENST00000603695,;FOCAD,missense_variant,p.Gln69His,ENST00000604254,;FOCAD,missense_variant,p.Gln88His,ENST00000603044,;	3829	68	92	SUCCESS
C9orf57	138240	.	GRCh37	9	74671740	74671740	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	49	53	0	ENST00000377024.3:c.183A>T	p.Thr61=	p.T61=	ENST00000377024	NM_001128618.1	61	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS47980.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTTGTCTG	NONE	.	.	.	.	.	ENSP00000366223	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000377024	Transcript	.	.	ENSG00000204669	27037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI057_HUMAN	C9orf57	HGNC	.	.	UPI0000160595	SNV	C9orf57,synonymous_variant,p.%3D,ENST00000377024,;C9orf57,synonymous_variant,p.%3D,ENST00000424431,;	279	53	71	SUCCESS
PRUNE2	158471	.	GRCh37	9	79324389	79324389	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	57	90	0	ENST00000376718.3:c.2801T>A	p.Leu934Gln	p.L934Q	ENST00000376718	NM_015225.2	934	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS47982.1	2801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTAGGACA	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Leu256Gln,ENST00000426088,;PRUNE2,missense_variant,p.Leu934Gln,ENST00000376718,;PRUNE2,missense_variant,p.Leu575Gln,ENST00000428286,;	2925	90	91	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84606346	84606346	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	94	124	0	ENST00000344803.2:c.961T>A	p.Leu321Met	p.L321M	ENST00000344803	NM_001001670.2	321	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS47986.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTTGAAG	NONE	.	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	.	.	ENSP00000341988	.	4/4	.	.	.	.	.	.	.	.	COSM3658863,COSM3658862	4/4	PASS	ENST00000344803	Transcript	.	.	ENSG00000214929	37283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.311)	.	deleterious(0.02)	1,1	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,missense_variant,p.Leu321Met,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	1008	124	135	SUCCESS
IARS	0	.	GRCh37	9	95003228	95003228	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	99	0	ENST00000375643.3:c.3193C>T	p.Leu1065=	p.L1065=	ENST00000375643	NM_013417.3	1065	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6694.1	3193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGTTCAG	NONE	.	.	HAMAP:MF_02003	.	.	ENSP00000364794	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000375643	Transcript	.	.	ENSG00000196305	5330	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYIC_HUMAN	IARS	HGNC	Q9P1N9_HUMAN,Q7L4K8_HUMAN,Q5TCD1_HUMAN,Q5TCC4_HUMAN,Q59G75_HUMAN,J3KR24_HUMAN	.	UPI0000141335	SNV	IARS,synonymous_variant,p.%3D,ENST00000375627,;IARS,synonymous_variant,p.%3D,ENST00000443024,;IARS,synonymous_variant,p.%3D,ENST00000375643,;IARS,synonymous_variant,p.%3D,ENST00000447699,;IARS,synonymous_variant,p.%3D,ENST00000375629,;IARS,non_coding_transcript_exon_variant,,ENST00000473915,;IARS,non_coding_transcript_exon_variant,,ENST00000474340,;	3460	99	100	SUCCESS
FRMPD3	84443	.	GRCh37	X	106773690	106773690	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	27	101	0	ENST00000276185.4:c.299A>G	p.Asn100Ser	p.N100S	ENST00000276185		100	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	.	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTAATGAGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000276185	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	deleterious(0.01)	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,missense_variant,p.Asn100Ser,ENST00000276185,;FRMPD3,missense_variant,p.Asn48Ser,ENST00000439554,;FRMPD3-AS1,intron_variant,,ENST00000415252,;	299	101	126	SUCCESS
ZCCHC16	0	.	GRCh37	X	111697871	111697871	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	7	94	0	ENST00000340433.2:c.-86T>C		p.*29*	ENST00000340433	NM_001004308.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35369.1	.	MUTECT|MUSE	.	GTCTCTGATCA	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,5_prime_UTR_variant,,ENST00000340433,;	145	94	122	SUCCESS
LRCH2	57631	.	GRCh37	X	114404863	114404863	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	50	187	0	ENST00000317135.8:c.997A>T	p.Ser333Cys	p.S333C	ENST00000317135	NM_020871.3	333	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS48155.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTGTCTG	NONE	.	.	hmmpanther:PTHR23155:SF409,hmmpanther:PTHR23155	.	.	ENSP00000325091	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000317135	Transcript	.	.	ENSG00000130224	29292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.302)	.	tolerated(0.42)	.	LRCH2_HUMAN	LRCH2	HGNC	.	.	UPI000022DB30	SNV	LRCH2,missense_variant,p.Ser333Cys,ENST00000538422,;LRCH2,missense_variant,p.Ser333Cys,ENST00000317135,;	1028	187	188	SUCCESS
TENM1	10178	.	GRCh37	X	123518224	123518224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	108	0	ENST00000371130.3:c.6536A>G	p.Asn2179Ser	p.N2179S	ENST00000371130	NM_014253.3	2179	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS55488.1	6557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTTTCCA	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,TIGRFAM_domain:TIGR01643	.	.	ENSP00000403954	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Asn2186Ser,ENST00000422452,;TENM1,missense_variant,p.Asn2179Ser,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	6621	108	121	SUCCESS
ARHGAP36	158763	.	GRCh37	X	130215821	130215821	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	82	0	ENST00000276211.5:c.182T>A	p.Leu61Gln	p.L61Q	ENST00000276211	NM_144967.3	61	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS14628.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCTGAAGC	NONE	.	.	hmmpanther:PTHR12635:SF5,hmmpanther:PTHR12635	.	.	ENSP00000276211	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000276211	Transcript	.	.	ENSG00000147256	26388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.05)	.	RHG36_HUMAN	ARHGAP36	HGNC	.	.	UPI0000041347	SNV	ARHGAP36,missense_variant,p.Leu61Gln,ENST00000276211,;ARHGAP36,missense_variant,p.Leu13Gln,ENST00000423277,;ARHGAP36,missense_variant,p.Leu49Gln,ENST00000370922,;ARHGAP36,missense_variant,p.Leu30Gln,ENST00000412432,;ARHGAP36,upstream_gene_variant,,ENST00000370921,;	527	82	93	SUCCESS
SLITRK2	84631	.	GRCh37	X	144906061	144906061	+	synonymous_variant	Silent	SNP	A	A	T	rs782442564	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	51	140	0	ENST00000370490.1:c.2118A>T	p.Gly706=	p.G706=	ENST00000370490		706	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14680.1	2118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAGACCC	NONE	byFrequency	.	hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	rs782442564	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;SLITRK2,synonymous_variant,p.%3D,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	6373	140	162	SUCCESS
MAGEA1	4100	.	GRCh37	X	152482858	152482858	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	82	136	1	ENST00000356661.5:c.153A>T	p.Ser51=	p.S51=	ENST00000356661	NM_004988.4	51	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14720.1	153	RADIA|MUTECT|MUSE	.	TCTGTTGACCC	NONE	.	.	hmmpanther:PTHR11736:SF49,hmmpanther:PTHR11736,Pfam_domain:PF12440	.	.	ENSP00000349085	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356661	Transcript	.	.	ENSG00000198681	6796	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAGA1_HUMAN	MAGEA1	HGNC	A8IF97_HUMAN	.	UPI0000035FCB	SNV	MAGEA1,synonymous_variant,p.%3D,ENST00000356661,;	372	137	162	SUCCESS
FLNA	2316	.	GRCh37	X	153585946	153585946	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868971677	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	109	0	ENST00000369850.3:c.4801G>A	p.Asp1601Asn	p.D1601N	ENST00000369850	NM_001110556.1	1601	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS48194.1	4801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTCATGGT	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000358866	.	29/48	.	.	.	.	.	.	.	.	.	29/48	PASS	ENST00000369850	Transcript	.	.	ENSG00000196924	3754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	tolerated(0.05)	.	FLNA_HUMAN	FLNA	HGNC	Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN	.	UPI000013C596	SNV	FLNA,missense_variant,p.Asp1601Asn,ENST00000422373,;FLNA,missense_variant,p.Asp1601Asn,ENST00000360319,;FLNA,missense_variant,p.Asp1601Asn,ENST00000344736,;FLNA,missense_variant,p.Asp1601Asn,ENST00000369850,;FLNA,5_prime_UTR_variant,,ENST00000369856,;FLNA,upstream_gene_variant,,ENST00000438732,;FLNA,upstream_gene_variant,,ENST00000444578,;FLNA,non_coding_transcript_exon_variant,,ENST00000466319,;FLNA,upstream_gene_variant,,ENST00000498411,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,non_coding_transcript_exon_variant,,ENST00000490936,;FLNA,upstream_gene_variant,,ENST00000474072,;FLNA,upstream_gene_variant,,ENST00000466325,;FLNA,upstream_gene_variant,,ENST00000415241,;FLNA,upstream_gene_variant,,ENST00000474358,;	5038	109	108	SUCCESS
PLXNA3	55558	.	GRCh37	X	153690520	153690520	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	157	0	ENST00000369682.3:c.1187G>C	p.Gly396Ala	p.G396A	ENST00000369682	NM_017514.3	396	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS14752.1	1187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGAGGCC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000358696	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,missense_variant,p.Gly396Ala,ENST00000369682,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000482598,;PLXNA3,upstream_gene_variant,,ENST00000478236,;	1362	157	142	SUCCESS
JADE3	9767	.	GRCh37	X	46893038	46893038	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	8	111	0	ENST00000218343.4:c.703C>T	p.Leu235Phe	p.L235F	ENST00000218343	NM_014735.3	235	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14271.1	703	MUTECT|MUSE	.	GCATCCTCAAG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR13793:SF27,hmmpanther:PTHR13793,PROSITE_patterns:PS01359,Pfam_domain:PF13831,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000218343	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000218343	Transcript	.	.	ENSG00000102221	22982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.853)	.	deleterious(0.01)	.	JADE3_HUMAN	JADE3	HGNC	F2Z3N8_HUMAN,F2Z2B6_HUMAN	.	UPI0000073DE6	SNV	JADE3,missense_variant,p.Leu235Phe,ENST00000218343,;JADE3,missense_variant,p.Leu235Phe,ENST00000397189,;	1001	111	171	SUCCESS
MAGIX	79917	.	GRCh37	X	49021393	49021393	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	56	0	ENST00000412696.2:c.472A>C	p.Lys158Gln	p.K158Q	ENST00000412696	NM_024859.2	158	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS48106.1	472	MUTECT|MUSE	.	TGCTGAAGGAT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF5,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000387928	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000412696	Transcript	.	.	ENSG00000017621	30006	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.876)	.	deleterious(0.01)	.	MAGIX_HUMAN	MAGIX	HGNC	.	.	UPI00018132AC	SNV	MAGIX,missense_variant,p.Lys104Gln,ENST00000425285,;MAGIX,missense_variant,p.Lys99Gln,ENST00000376338,;MAGIX,missense_variant,p.Lys127Gln,ENST00000415364,;MAGIX,missense_variant,p.Lys158Gln,ENST00000412696,;MAGIX,missense_variant,p.Lys99Gln,ENST00000376339,;MAGIX,intron_variant,,ENST00000458388,;MAGIX,intron_variant,,ENST00000425661,;MAGIX,intron_variant,,ENST00000454342,;MAGIX,non_coding_transcript_exon_variant,,ENST00000498742,;	472	56	63	SUCCESS
GAGE2C	2574	.	GRCh37	X	49230888	49230888	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	19	0	ENST00000381708.1:c.292C>T	p.Pro98Ser	p.P98S	ENST00000381708	NM_001472.2	98	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS35260.1	292	RADIA|VARSCANS	.	TGGACCCGCCA	NONE	.	.	hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF8,Pfam_domain:PF05831	.	.	ENSP00000371127	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000381708	Transcript	.	.	ENSG00000236249	31958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.192)	.	.	.	GAG2B_HUMAN	GAGE2C	HGNC	.	.	UPI000012B3E3	SNV	GAGE2C,missense_variant,p.Pro98Ser,ENST00000381708,;GAGE2B,upstream_gene_variant,,ENST00000381725,;	364	19	18	SUCCESS
IQSEC2	23096	.	GRCh37	X	53279807	53279807	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	68	0	ENST00000396435.3:c.1951C>A	p.Pro651Thr	p.P651T	ENST00000396435	NM_001111125.2	651	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS48130.1	1951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF61	.	.	ENSP00000379712	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.6)	.	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,missense_variant,p.Pro446Thr,ENST00000375365,;IQSEC2,missense_variant,p.Pro641Thr,ENST00000375368,;IQSEC2,missense_variant,p.Pro651Thr,ENST00000396435,;	2152	68	73	SUCCESS
HUWE1	10075	.	GRCh37	X	53591649	53591649	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	66	0	ENST00000262854.6:c.6915T>C	p.Asp2305=	p.D2305=	ENST00000262854	NM_031407.5	2305	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS35301.1	6915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGATCCTC	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	50/83	.	.	.	.	.	.	.	.	.	50/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;HUWE1,synonymous_variant,p.%3D,ENST00000427052,;	7373	66	75	SUCCESS
PHF8	23133	.	GRCh37	X	54012273	54012273	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	58	78	1	ENST00000357988.5:c.2213G>C	p.Gly738Ala	p.G738A	ENST00000357988	NM_001184896.1	738	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS55420.1	2213	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCCCACC	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11	.	.	ENSP00000350676	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000357988	Transcript	.	.	ENSG00000172943	20672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated(0.26)	.	PHF8_HUMAN	PHF8	HGNC	Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN	.	UPI00001C2071	SNV	PHF8,missense_variant,p.Gly466Ala,ENST00000443302,;PHF8,missense_variant,p.Gly606Ala,ENST00000396282,;PHF8,missense_variant,p.Gly738Ala,ENST00000357988,;PHF8,missense_variant,p.Gly702Ala,ENST00000338154,;PHF8,missense_variant,p.Gly601Ala,ENST00000338946,;PHF8,intron_variant,,ENST00000322659,;PHF8,downstream_gene_variant,,ENST00000494928,;	2572	80	98	SUCCESS
APEX2	27301	.	GRCh37	X	55026952	55026952	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	120	0	ENST00000374987.3:c.97G>A	p.Gly33Arg	p.G33R	ENST00000374987	NM_014481.3	33	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14365.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGGGCGC	NONE	.	.	PROSITE_profiles:PS51435,hmmpanther:PTHR22748:SF4,hmmpanther:PTHR22748,Pfam_domain:PF03372,TIGRFAM_domain:TIGR00633,Gene3D:3.60.10.10,Superfamily_domains:SSF56219	.	.	ENSP00000364126	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000374987	Transcript	.	.	ENSG00000169188	17889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.73)	.	APEX2_HUMAN	APEX2	HGNC	E5KN95_HUMAN,B7ZA71_HUMAN	.	UPI0000071F5B	SNV	APEX2,missense_variant,p.Gly33Arg,ENST00000374987,;PFKFB1,upstream_gene_variant,,ENST00000545676,;APEX2,non_coding_transcript_exon_variant,,ENST00000471758,;	163	120	128	SUCCESS
MED12	9968	.	GRCh37	X	70354642	70354642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	57	180	0	ENST00000374080.3:c.4807C>A	p.Gln1603Lys	p.Q1603K	ENST00000374080		1603	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS43970.1	4807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCGCAAGGT	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4	.	.	ENSP00000363193	.	35/45	.	.	.	.	.	.	.	.	.	35/45	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	SNV	MED12,missense_variant,p.Gln1603Lys,ENST00000374102,;MED12,missense_variant,p.Gln1603Lys,ENST00000333646,;MED12,missense_variant,p.Gln1603Lys,ENST00000374080,;MED12,upstream_gene_variant,,ENST00000444034,;MED12,downstream_gene_variant,,ENST00000460771,;	4839	180	174	SUCCESS
TBL1X	6907	.	GRCh37	X	9677307	9677307	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	157	0	ENST00000217964.7:c.1256A>G	p.Lys419Arg	p.K419R	ENST00000217964	NM_005647.3	419	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14133.1	1256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAAATGGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22846,hmmpanther:PTHR22846:SF36,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000217964	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000217964	Transcript	.	.	ENSG00000101849	11585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	tolerated(0.13)	.	TBL1X_HUMAN	TBL1X	HGNC	C9JYQ8_HUMAN,C9JP56_HUMAN,C9JCW3_HUMAN,C9J5F9_HUMAN	.	UPI0000161FAF	SNV	TBL1X,missense_variant,p.Lys368Arg,ENST00000424279,;TBL1X,missense_variant,p.Lys419Arg,ENST00000217964,;TBL1X,missense_variant,p.Lys368Arg,ENST00000380961,;TBL1X,missense_variant,p.Lys419Arg,ENST00000407597,;TBL1X,missense_variant,p.Lys368Arg,ENST00000536365,;	1896	157	125	SUCCESS
DNMBP	23268	.	GRCh37	10	101715378	101715378	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777776503	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	61	0	ENST00000324109.4:c.1853C>T	p.Pro618Leu	p.P618L	ENST00000324109	NM_015221.2	618	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7485.1	1853	MUTECT|MUSE	.	ATACCGGAGTA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834	.	.	ENSP00000315659	.	4/17	.	.	.	.	.	.	.	.	rs777776503	4/17	PASS	ENST00000324109	Transcript	.	.	ENSG00000107554	30373	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.37)	.	DNMBP_HUMAN	DNMBP	HGNC	B4E0Q3_HUMAN	.	UPI000013D6C9	SNV	DNMBP,missense_variant,p.Pro618Leu,ENST00000324109,;DNMBP,missense_variant,p.Pro618Leu,ENST00000342239,;DNMBP-AS1,intron_variant,,ENST00000434409,;	1945	61	68	SUCCESS
SFXN2	118980	.	GRCh37	10	104489078	104489078	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	43	0	ENST00000369893.5:c.434A>G	p.Gln145Arg	p.Q145R	ENST00000369893	NM_178858.4	145	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS7539.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCAGATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF14,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820	.	.	ENSP00000358909	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000369893	Transcript	.	.	ENSG00000156398	16086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.08)	.	SFXN2_HUMAN	SFXN2	HGNC	R4GN74_HUMAN,R4GMW0_HUMAN	.	UPI0000001241	SNV	SFXN2,missense_variant,p.Gln145Arg,ENST00000602831,;SFXN2,missense_variant,p.Gln145Arg,ENST00000602868,;SFXN2,missense_variant,p.Gln145Arg,ENST00000369893,;SFXN2,downstream_gene_variant,,ENST00000602764,;SFXN2,downstream_gene_variant,,ENST00000602439,;SFXN2,downstream_gene_variant,,ENST00000602647,;SFXN2,downstream_gene_variant,,ENST00000602785,;SFXN2,splice_region_variant,,ENST00000602660,;SFXN2,intron_variant,,ENST00000459894,;SFXN2,intron_variant,,ENST00000480358,;SFXN2,downstream_gene_variant,,ENST00000602670,;SFXN2,downstream_gene_variant,,ENST00000602287,;SFXN2,downstream_gene_variant,,ENST00000602544,;	601	43	65	SUCCESS
ATRNL1	26033	.	GRCh37	10	117061424	117061424	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	79	0	ENST00000355044.3:c.2689T>C	p.Ser897Pro	p.S897P	ENST00000355044	NM_207303.2	897	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS7592.1	2689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTTCCAAC	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000347152	.	17/29	.	.	.	.	.	.	.	.	.	17/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	.	tolerated(0.13)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Ser27Pro,ENST00000526373,;ATRNL1,missense_variant,p.Ser897Pro,ENST00000355044,;ATRNL1,5_prime_UTR_variant,,ENST00000423111,;ATRNL1,upstream_gene_variant,,ENST00000303745,;ATRNL1,upstream_gene_variant,,ENST00000534530,;	2815	79	85	SUCCESS
RBP3	5949	.	GRCh37	10	48390744	48390744	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	784	543	1232	1	ENST00000224600.4:c.134T>C	p.Leu45Pro	p.L45P	ENST00000224600	NM_002900.2	45	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS7218.1	134	RADIA|VARSCANS	.	CCAGCAGGTTC	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.30.750.44,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.Leu45Pro,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	248	1233	1327	SUCCESS
SLC29A3	55315	.	GRCh37	10	73111483	73111483	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	63	0	ENST00000373189.5:c.548G>C	p.Ser183Thr	p.S183T	ENST00000373189	NM_018344.5	183	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS7310.1	548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGCAGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10332:SF17,hmmpanther:PTHR10332,Pfam_domain:PF01733,PIRSF_domain:PIRSF016379,Prints_domain:PR01130	.	.	ENSP00000362285	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000373189	Transcript	1	.	ENSG00000198246	23096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.42)	.	S29A3_HUMAN	SLC29A3	HGNC	.	.	UPI00001D9671	SNV	SLC29A3,missense_variant,p.Ser183Thr,ENST00000373189,;SLC29A3,non_coding_transcript_exon_variant,,ENST00000469204,;	600	63	54	SUCCESS
DNAJB12	54788	.	GRCh37	10	74114738	74114738	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	31	40	0	ENST00000338820.3:c.20G>A	p.Arg7Gln	p.R7Q	ENST00000338820	NM_001002762.2	7	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS7316.2	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCGGGCG	NONE	.	.	.	.	.	ENSP00000345575	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000338820	Transcript	.	.	ENSG00000148719	14891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious_low_confidence(0)	.	.	DNAJB12	HGNC	Q659G2_HUMAN,J3KPS0_HUMAN	.	UPI0000E592BF	SNV	DNAJB12,missense_variant,p.Arg7Gln,ENST00000394903,;DNAJB12,missense_variant,p.Arg7Gln,ENST00000338820,;DNAJB12,5_prime_UTR_variant,,ENST00000444643,;DNAJB12,upstream_gene_variant,,ENST00000461919,;	170	40	51	SUCCESS
CH25H	9023	.	GRCh37	10	90966684	90966684	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	106	0	ENST00000371852.2:c.366C>A	p.Leu122=	p.L122=	ENST00000371852	NM_003956.3	122	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7400.1	366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11863,hmmpanther:PTHR11863:SF5	.	.	ENSP00000360918	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371852	Transcript	.	.	ENSG00000138135	1907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CH25H_HUMAN	CH25H	HGNC	.	.	UPI0000073DCF	SNV	CH25H,synonymous_variant,p.%3D,ENST00000371852,;	388	106	116	SUCCESS
IFIT5	24138	.	GRCh37	10	91177145	91177145	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	46	163	0	ENST00000371795.4:c.192del	p.Gly65AlafsTer16	p.G65Afs*16	ENST00000371795	NM_012420.2	63	ctA/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS7403.1	189	VARSCANI*|PINDEL	.	ACACCTAAAAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13424,hmmpanther:PTHR10271:SF5,hmmpanther:PTHR10271,PROSITE_profiles:PS50005	.	.	ENSP00000360860	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371795	Transcript	.	.	ENSG00000152778	13328	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFIT5_HUMAN	IFIT5	HGNC	.	.	UPI000012D3E6	deletion	IFIT5,frameshift_variant,p.Gly65AlafsTer16,ENST00000371795,;IFIT5,frameshift_variant,p.Gly65AlafsTer16,ENST00000416601,;LIPA,upstream_gene_variant,,ENST00000371837,;	402	163	200	SUCCESS
CBL	867	.	GRCh37	11	119170325	119170325	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	89	0	ENST00000264033.4:c.2555C>T	p.Thr852Ile	p.T852I	ENST00000264033	NM_005188.3	852	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8418.1	2555	MUTECT|MUSE	.	TGCCACCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23007:SF5,hmmpanther:PTHR23007,Superfamily_domains:SSF46934	.	.	ENSP00000264033	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000264033	Transcript	.	.	ENSG00000110395	1541	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.19)	.	CBL_HUMAN	CBL	HGNC	.	.	UPI000013D4A7	SNV	CBL,missense_variant,p.Thr852Ile,ENST00000264033,;	2931	89	83	SUCCESS
DCDC1	341019	.	GRCh37	11	30925106	30925106	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	38	144	0	ENST00000303697.4:c.497T>G	p.Leu166Arg	p.L166R	ENST00000303697		166	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	.	.	4433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAGAAAG	NONE	.	.	hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837	.	.	ENSP00000472625	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.37)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Leu1478Arg,ENST00000597505,;DCDC1,missense_variant,p.Leu557Arg,ENST00000339794,;DCDC1,missense_variant,p.Leu213Arg,ENST00000406071,;DCDC1,missense_variant,p.Leu166Arg,ENST00000303697,;DCDC1,missense_variant,p.Leu513Arg,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;DCDC1,downstream_gene_variant,,ENST00000429306,;	4433	144	118	SUCCESS
ACCS	84680	.	GRCh37	11	44099197	44099197	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	15	0	ENST00000263776.8:c.655-198C>G		p.*219*	ENST00000263776	NM_032592.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7907.1	.	MUTECT|MUSE	.	GACACCCAAGA	NONE	.	.	.	.	.	ENSP00000263776	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263776	Transcript	.	.	ENSG00000110455	23989	.	.	MODIFIER	7/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	1A1L1_HUMAN	ACCS	HGNC	E9PS61_HUMAN,E9PRT9_HUMAN	.	UPI000006D45A	SNV	ACCS,intron_variant,,ENST00000263776,;ACCS,downstream_gene_variant,,ENST00000524990,;ACCS,downstream_gene_variant,,ENST00000432284,;ACCS,non_coding_transcript_exon_variant,,ENST00000533208,;ACCS,non_coding_transcript_exon_variant,,ENST00000527346,;ACCS,intron_variant,,ENST00000531940,;ACCS,upstream_gene_variant,,ENST00000531190,;ACCS,downstream_gene_variant,,ENST00000526577,;ACCS,upstream_gene_variant,,ENST00000534035,;ACCS,downstream_gene_variant,,ENST00000527603,;ACCS,upstream_gene_variant,,ENST00000531505,;ACCS,upstream_gene_variant,,ENST00000532122,;ACCS,upstream_gene_variant,,ENST00000527557,;	.	15	10	SUCCESS
CKAP5	9793	.	GRCh37	11	46771955	46771955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	6	102	0	ENST00000529230.1:c.5573A>G	p.Lys1858Arg	p.K1858R	ENST00000529230		1858	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS31477.1	5573	MUTECT|MUSE	.	ATTTCTTCTTA	NONE	.	.	hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609,Superfamily_domains:SSF48371	.	.	ENSP00000432768	.	42/44	.	.	.	.	.	.	.	.	.	42/44	PASS	ENST00000529230	Transcript	.	.	ENSG00000175216	28959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.086)	.	tolerated(0.54)	.	CKAP5_HUMAN	CKAP5	HGNC	E9PQH5_HUMAN	.	UPI000013F21E	SNV	CKAP5,missense_variant,p.Lys1865Arg,ENST00000415402,;CKAP5,missense_variant,p.Lys1798Arg,ENST00000354558,;CKAP5,missense_variant,p.Lys1798Arg,ENST00000312055,;CKAP5,missense_variant,p.Lys1858Arg,ENST00000529230,;CKAP5,missense_variant,p.Lys97Arg,ENST00000525896,;CKAP5,downstream_gene_variant,,ENST00000526876,;CKAP5,downstream_gene_variant,,ENST00000527333,;MIR5582,downstream_gene_variant,,ENST00000579697,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;	5620	102	89	SUCCESS
OR52R1	119695	.	GRCh37	11	4824778	4824778	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	49	157	0	ENST00000356069.2:c.833T>A	p.Leu278Gln	p.L278Q	ENST00000356069	NM_001005177.3	278	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31360.2	833	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGGATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000348368	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356069	Transcript	.	.	ENSG00000176937	15235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0)	.	O52R1_HUMAN	OR52R1	HGNC	.	.	UPI0000140D5C	SNV	OR52R1,missense_variant,p.Leu357Gln,ENST00000380382,;OR52R1,missense_variant,p.Leu278Gln,ENST00000356069,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	833	157	137	SUCCESS
OR52N4	390072	.	GRCh37	11	5776539	5776539	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	67	0	ENST00000317254.3:c.569C>A	p.Ser190Tyr	p.S190Y	ENST00000317254	NM_001005175.3	190	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44528.1	569	MUTECT|MUSE	.	ATTGTCCTGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF74,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000323224	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317254	Transcript	.	.	ENSG00000181074	15230	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	O52N4_HUMAN	OR52N4	HGNC	.	.	UPI00001AF18B	SNV	OR52N4,missense_variant,p.Ser190Tyr,ENST00000317254,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	617	67	70	SUCCESS
OR52N4	390072	.	GRCh37	11	5776540	5776540	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	67	0	ENST00000317254.3:c.570C>T	p.Ser190=	p.S190=	ENST00000317254	NM_001005175.3	190	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS44528.1	570	MUTECT|MUSE	.	TTGTCCTGTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF74,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000323224	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317254	Transcript	.	.	ENSG00000181074	15230	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O52N4_HUMAN	OR52N4	HGNC	.	.	UPI00001AF18B	SNV	OR52N4,synonymous_variant,p.%3D,ENST00000317254,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	618	67	69	SUCCESS
OR6Q1	219952	.	GRCh37	11	57798664	57798664	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	16	159	0	ENST00000302622.3:c.240G>C	p.Val80=	p.V80=	ENST00000302622	NM_001005186.2	80	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS31541.1	240	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGCCCAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF140,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000307734	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302622	Transcript	.	.	ENSG00000172381	15302	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR6Q1_HUMAN	OR6Q1	HGNC	.	.	UPI000013E7FD	SNV	OR6Q1,synonymous_variant,p.%3D,ENST00000302622,;OR9Q1,intron_variant,,ENST00000335397,;RNU6-899P,upstream_gene_variant,,ENST00000363947,;	263	159	167	SUCCESS
OR9I1	219954	.	GRCh37	11	57886498	57886498	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	6	76	0	ENST00000302610.1:c.419T>C	p.Leu140Pro	p.L140P	ENST00000302610	NM_001005211.1	140	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31542.1	419	MUTECT|MUSE|VARSCANS	.	AGCAGAGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF232,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000302606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302610	Transcript	.	.	ENSG00000172377	14718	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.317)	.	deleterious(0.01)	.	OR9I1_HUMAN	OR9I1	HGNC	.	.	UPI0000041B43	SNV	OR9I1,missense_variant,p.Leu140Pro,ENST00000302610,;OR9Q1,intron_variant,,ENST00000335397,;	419	76	69	SUCCESS
ZFP91	80829	.	GRCh37	11	58381796	58381796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	48	0	ENST00000316059.6:c.1082G>T	p.Arg361Leu	p.R361L	ENST00000316059	NM_001197051.1	361	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS31553.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCGACATG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR11389:SF437,hmmpanther:PTHR11389,PROSITE_profiles:PS50157	.	.	ENSP00000339030	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000316059	Transcript	.	.	ENSG00000186660	14983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZFP91_HUMAN	ZFP91	HGNC	B4DIN6_HUMAN	.	UPI0000070D45	SNV	ZFP91,missense_variant,p.Arg361Leu,ENST00000316059,;AP001350.1,upstream_gene_variant,,ENST00000601906,;ZFP91-CNTF,missense_variant,p.Arg361Leu,ENST00000389919,;ZFP91-CNTF,missense_variant,p.Arg188Leu,ENST00000422974,;	1253	48	54	SUCCESS
STIP1	10963	.	GRCh37	11	63963275	63963275	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	103	228	0	ENST00000305218.4:c.662A>G	p.Asn221Ser	p.N221S	ENST00000305218	NM_006819.2	221	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8058.1	662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAATAAGA	NONE	.	.	hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF296	.	.	ENSP00000305958	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000305218	Transcript	.	.	ENSG00000168439	11387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.38)	.	STIP1_HUMAN	STIP1	HGNC	.	.	UPI000012D225	SNV	STIP1,missense_variant,p.Asn197Ser,ENST00000538945,;STIP1,missense_variant,p.Asn221Ser,ENST00000543847,;STIP1,missense_variant,p.Asn221Ser,ENST00000305218,;STIP1,missense_variant,p.Asn268Ser,ENST00000358794,;STIP1,upstream_gene_variant,,ENST00000540887,;STIP1,non_coding_transcript_exon_variant,,ENST00000540501,;STIP1,upstream_gene_variant,,ENST00000544739,;STIP1,upstream_gene_variant,,ENST00000537479,;STIP1,intron_variant,,ENST00000536973,;STIP1,downstream_gene_variant,,ENST00000540736,;STIP1,upstream_gene_variant,,ENST00000538497,;	809	228	246	SUCCESS
FOLH1B	219595	.	GRCh37	11	89385730	89385730	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	58	154	1	ENST00000526379.1:n.180T>C		p.*60*	ENST00000526379				0	.	.	.	.	.	C	.	processed_transcript	.	.	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TACCATCTTTC	NONE	.	.	.	.	.	.	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000526379	Transcript	.	.	ENSG00000134612	13636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FOLH1B	HGNC	.	.	.	SNV	FOLH1B,non_coding_transcript_exon_variant,,ENST00000526379,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000531315,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000533785,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000532352,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000542857,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000529567,;	180	155	156	SUCCESS
NAA25	80018	.	GRCh37	12	112516482	112516482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	121	0	ENST00000261745.4:c.541G>A	p.Val181Ile	p.V181I	ENST00000261745	NM_024953.3	181	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS9159.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGACCATTC	NONE	.	.	hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF3,Superfamily_domains:SSF48452	.	.	ENSP00000261745	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000261745	Transcript	.	.	ENSG00000111300	25783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.09)	.	NAA25_HUMAN	NAA25	HGNC	.	.	UPI00001FBB50	SNV	NAA25,missense_variant,p.Val181Ile,ENST00000261745,;NAA25,downstream_gene_variant,,ENST00000547133,;NAA25,3_prime_UTR_variant,,ENST00000549711,;NAA25,3_prime_UTR_variant,,ENST00000551858,;NAA25,non_coding_transcript_exon_variant,,ENST00000552527,;	790	121	116	SUCCESS
GCN1L1	0	.	GRCh37	12	120595713	120595713	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	94	0	ENST00000300648.6:c.3027C>A	p.Ile1009=	p.I1009=	ENST00000300648	NM_006836.1	1009	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS41847.1	3027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGATCTG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	26/58	.	.	.	.	.	.	.	.	.	26/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,synonymous_variant,p.%3D,ENST00000300648,;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1L1,downstream_gene_variant,,ENST00000550471,;GCN1L1,upstream_gene_variant,,ENST00000548132,;GCN1L1,downstream_gene_variant,,ENST00000547369,;GCN1L1,upstream_gene_variant,,ENST00000551920,;	3040	94	103	SUCCESS
ATF7IP	55729	.	GRCh37	12	14577886	14577886	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs776490455	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	117	0	ENST00000261168.4:c.1037A>C	p.Asp346Ala	p.D346A	ENST00000261168	NM_018179.3	346	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS8663.1	1037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGATGCTA	NONE	.	.	hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210	.	.	ENSP00000261168	.	2/15	.	.	.	.	.	.	.	.	rs776490455	2/15	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	deleterious_low_confidence(0.05)	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,missense_variant,p.Asp346Ala,ENST00000261168,;ATF7IP,missense_variant,p.Asp346Ala,ENST00000540793,;ATF7IP,missense_variant,p.Asp346Ala,ENST00000543189,;ATF7IP,missense_variant,p.Asp354Ala,ENST00000544627,;ATF7IP,missense_variant,p.Asp346Ala,ENST00000536444,;ATF7IP,missense_variant,p.Asp346Ala,ENST00000396279,;ATF7IP,intron_variant,,ENST00000545723,;ATF7IP,intron_variant,,ENST00000538511,;ATF7IP,downstream_gene_variant,,ENST00000545769,;ATF7IP,downstream_gene_variant,,ENST00000542991,;ATF7IP,downstream_gene_variant,,ENST00000535132,;ATF7IP,downstream_gene_variant,,ENST00000536279,;ATF7IP,downstream_gene_variant,,ENST00000542508,;ATF7IP,downstream_gene_variant,,ENST00000542967,;ATF7IP,downstream_gene_variant,,ENST00000534828,;ATF7IP,downstream_gene_variant,,ENST00000542514,;ATF7IP,downstream_gene_variant,,ENST00000539057,;ATF7IP,downstream_gene_variant,,ENST00000541056,;ATF7IP,downstream_gene_variant,,ENST00000428217,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	1190	117	85	SUCCESS
SLCO1C1	53919	.	GRCh37	12	20852565	20852565	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	88	269	0	ENST00000266509.2:c.55C>A	p.Pro19Thr	p.P19T	ENST00000266509	NM_017435.4	19	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS53757.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAACCTGTT	NONE	.	.	hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF18	.	.	ENSP00000370964	.	2/15	.	.	.	.	.	.	.	.	COSM3459057,COSM3459056	2/15	PASS	ENST00000381552	Transcript	.	.	ENSG00000139155	13819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.011)	.	deleterious_low_confidence(0.03)	1,1	SO1C1_HUMAN	SLCO1C1	HGNC	.	.	UPI00004C3E1B	SNV	SLCO1C1,missense_variant,p.Pro19Thr,ENST00000266509,;SLCO1C1,missense_variant,p.Pro19Thr,ENST00000540354,;SLCO1C1,missense_variant,p.Pro19Thr,ENST00000381552,;SLCO1C1,missense_variant,p.Pro19Thr,ENST00000545604,;SLCO1C1,intron_variant,,ENST00000545102,;SLCO1C1,downstream_gene_variant,,ENST00000535609,;SLCO1C1,downstream_gene_variant,,ENST00000539443,;SLCO1C1,downstream_gene_variant,,ENST00000534996,;SLCO1C1,missense_variant,p.Pro19Thr,ENST00000539415,;SLCO1C1,non_coding_transcript_exon_variant,,ENST00000497911,;	423	269	238	SUCCESS
DDX11	1663	.	GRCh37	12	31231447	31231447	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	543	40	731	0	ENST00000545668.1:c.120G>T	p.Gly40=	p.G40=	ENST00000545668	NM_001257144.1	40	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44856.1	120	MUTECT|MUSE|VARSCANS	.	ATTGGGATATT	NONE	.	.	PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,Gene3D:3.40.50.300,SMART_domains:SM00488,Superfamily_domains:SSF52540	.	.	ENSP00000384703	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	SNV	DDX11,synonymous_variant,p.%3D,ENST00000438391,;DDX11,synonymous_variant,p.%3D,ENST00000350437,;DDX11,synonymous_variant,p.%3D,ENST00000415475,;DDX11,synonymous_variant,p.%3D,ENST00000542838,;DDX11,synonymous_variant,p.%3D,ENST00000545668,;DDX11,synonymous_variant,p.%3D,ENST00000535317,;DDX11,synonymous_variant,p.%3D,ENST00000228264,;DDX11,synonymous_variant,p.%3D,ENST00000407793,;DDX11,synonymous_variant,p.%3D,ENST00000251758,;DDX11,upstream_gene_variant,,ENST00000544652,;SNORA75,upstream_gene_variant,,ENST00000391231,;DDX11-AS1,upstream_gene_variant,,ENST00000500527,;DDX11,synonymous_variant,p.%3D,ENST00000542244,;DDX11,synonymous_variant,p.%3D,ENST00000435753,;DDX11,synonymous_variant,p.%3D,ENST00000542129,;DDX11,synonymous_variant,p.%3D,ENST00000540935,;DDX11,synonymous_variant,p.%3D,ENST00000543756,;DDX11,synonymous_variant,p.%3D,ENST00000539049,;DDX11,non_coding_transcript_exon_variant,,ENST00000535158,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;	371	732	583	SUCCESS
SLC38A2	54407	.	GRCh37	12	46758276	46758276	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746626410	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	32	149	0	ENST00000256689.5:c.769A>G	p.Ile257Val	p.I257V	ENST00000256689	NM_018976.4	257	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8749.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTATTGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Pfam_domain:PF01490	.	.	ENSP00000256689	.	10/16	.	.	.	.	.	.	.	.	rs746626410	10/16	PASS	ENST00000256689	Transcript	.	.	ENSG00000134294	13448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.72)	.	S38A2_HUMAN	SLC38A2	HGNC	.	.	UPI000000121A	SNV	SLC38A2,missense_variant,p.Ile257Val,ENST00000256689,;SLC38A2,missense_variant,p.Ile95Val,ENST00000551374,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548870,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548111,;SLC38A2,downstream_gene_variant,,ENST00000547252,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000552414,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548236,;SLC38A2,upstream_gene_variant,,ENST00000548785,;SLC38A2,upstream_gene_variant,,ENST00000552703,;SLC38A2,upstream_gene_variant,,ENST00000546520,;	1214	149	119	SUCCESS
TFCP2	7024	.	GRCh37	12	51510198	51510198	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	90	0	ENST00000257915.5:c.357A>G	p.Ile119Met	p.I119M	ENST00000257915	NM_005653.4	119	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS8808.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAATATACT	NONE	.	.	Pfam_domain:PF04516,hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF11	.	.	ENSP00000257915	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000257915	Transcript	.	.	ENSG00000135457	11748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0.04)	.	TFCP2_HUMAN	TFCP2	HGNC	F8VWL0_HUMAN	.	UPI0000071CCA	SNV	TFCP2,missense_variant,p.Ile119Met,ENST00000257915,;TFCP2,missense_variant,p.Ile119Met,ENST00000548115,;TFCP2,missense_variant,p.Ile119Met,ENST00000307660,;TFCP2,missense_variant,p.Ile21Met,ENST00000548108,;TFCP2,missense_variant,p.Ile119Met,ENST00000549867,;	816	90	70	SUCCESS
SLC26A10	65012	.	GRCh37	12	58018905	58018905	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	62	133	0	ENST00000320442.4:c.1345-1G>A		p.X449_splice	ENST00000320442	NM_133489.2	449		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8949.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATAGGAGAC	NONE	.	.	.	.	.	ENSP00000320217	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320442	Transcript	.	.	ENSG00000135502	14470	.	.	HIGH	10/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2610_HUMAN	SLC26A10	HGNC	.	.	UPI000007059E	SNV	SLC26A10,splice_acceptor_variant,,ENST00000379218,;SLC26A10,splice_acceptor_variant,,ENST00000320442,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;B4GALNT1,downstream_gene_variant,,ENST00000341156,;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000550764,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;B4GALNT1,downstream_gene_variant,,ENST00000418555,;SLC26A10,splice_acceptor_variant,,ENST00000483647,;SLC26A10,splice_acceptor_variant,,ENST00000490243,;SLC26A10,splice_acceptor_variant,,ENST00000487816,;SLC26A10,splice_acceptor_variant,,ENST00000474791,;SLC26A10,splice_acceptor_variant,,ENST00000440686,;SLC26A10,splice_acceptor_variant,,ENST00000474359,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;SLC26A10,downstream_gene_variant,,ENST00000497297,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;	.	133	159	SUCCESS
RASSF3	283349	.	GRCh37	12	65088546	65088546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	50	0	ENST00000336061.2:c.571G>A	p.Glu191Lys	p.E191K	ENST00000336061		191	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8969.1	571	MUTECT|MUSE	.	AGTGGGAAGCC	NONE	.	.	PROSITE_profiles:PS50951,hmmpanther:PTHR22738:SF8,hmmpanther:PTHR22738	.	.	ENSP00000443021	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000542104	Transcript	.	.	ENSG00000153179	14271	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	deleterious(0.02)	.	RASF3_HUMAN	RASSF3	HGNC	Q496A9_HUMAN	.	UPI00000622AE	SNV	RASSF3,missense_variant,p.Glu191Lys,ENST00000542104,;RASSF3,missense_variant,p.Glu191Lys,ENST00000336061,;AC025262.1,downstream_gene_variant,,ENST00000594966,;RASSF3,3_prime_UTR_variant,,ENST00000283172,;	691	50	57	SUCCESS
IFFO1	25900	.	GRCh37	12	6665212	6665212	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	15	0	ENST00000396840.2:c.-17C>T		p.*6*	ENST00000396840				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41741.1	.	MUTECT|MUSE	.	CTGCTGGGAGA	NONE	.	.	.	.	.	ENSP00000349364	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000356896	Transcript	.	.	ENSG00000010295	24970	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFFO1_HUMAN	IFFO1	HGNC	Q9Y4M3_HUMAN,F8W8H2_HUMAN	.	UPI00006C2066	SNV	IFFO1,5_prime_UTR_variant,,ENST00000336604,;IFFO1,5_prime_UTR_variant,,ENST00000356896,;IFFO1,5_prime_UTR_variant,,ENST00000396840,;NOP2,downstream_gene_variant,,ENST00000399466,;NOP2,downstream_gene_variant,,ENST00000322166,;IFFO1,upstream_gene_variant,,ENST00000465801,;IFFO1,upstream_gene_variant,,ENST00000436152,;NOP2,downstream_gene_variant,,ENST00000382421,;NOP2,downstream_gene_variant,,ENST00000537442,;NOP2,downstream_gene_variant,,ENST00000545200,;NOP2,downstream_gene_variant,,ENST00000541778,;NOP2,downstream_gene_variant,,ENST00000542015,;IFFO1,5_prime_UTR_variant,,ENST00000487279,;IFFO1,non_coding_transcript_exon_variant,,ENST00000488007,;NOP2,downstream_gene_variant,,ENST00000537708,;NOP2,downstream_gene_variant,,ENST00000544630,;NOP2,downstream_gene_variant,,ENST00000536506,;NOP2,downstream_gene_variant,,ENST00000542919,;	28	15	11	SUCCESS
LAG3	3902	.	GRCh37	12	6887494	6887511	+	inframe_deletion	In_Frame_Del	DEL	CCGGAGCCGGAGCCGGAG	CCGGAGCCGGAGCCGGAG	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	CCGGAGCCGGAGCCGGAG	CCGGAGCCGGAGCCGGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	64	0	ENST00000203629.2:c.1521_1538del	p.Glu515_Pro520del	p.E515_P520del	ENST00000203629	NM_002286.5	506	CCGGAGCCGGAGCCGGAG/-	0	.	.	.	.	.	-	PEPEPE/-	protein_coding	YES	CCDS8561.1	1516-1533	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGAACCGGAGCCGGAGCCGGAGCCGGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000203629	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000203629	Transcript	.	.	ENSG00000089692	6476	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAG3_HUMAN	LAG3	HGNC	.	.	UPI000013C645	deletion	LAG3,inframe_deletion,p.Glu515_Pro520del,ENST00000203629,;LAG3,downstream_gene_variant,,ENST00000441671,;LAG3,non_coding_transcript_exon_variant,,ENST00000538079,;LAG3,non_coding_transcript_exon_variant,,ENST00000541049,;	1849-1866	64	55	SUCCESS
NAV3	89795	.	GRCh37	12	78522622	78522622	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	90	0	ENST00000397909.2:c.4417G>A	p.Gly1473Arg	p.G1473R	ENST00000397909	NM_001024383.1	1473	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS41815.1	4417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGGAAAA	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	18/39	.	.	.	.	.	.	.	.	.	18/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Gly1473Arg,ENST00000536525,;NAV3,missense_variant,p.Gly1473Arg,ENST00000397909,;NAV3,missense_variant,p.Gly102Arg,ENST00000550788,;NAV3,missense_variant,p.Gly1296Arg,ENST00000266692,;NAV3,missense_variant,p.Gly1473Arg,ENST00000228327,;NAV3,missense_variant,p.Gly368Arg,ENST00000552895,;RP11-136F16.2,downstream_gene_variant,,ENST00000418757,;	4590	90	83	SUCCESS
METTL25	84190	.	GRCh37	12	82792710	82792710	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	97	0	ENST00000248306.3:c.668A>G	p.His223Arg	p.H223R	ENST00000248306	NM_032230.2	223	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9024.1	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACATTGGA	NONE	.	.	Superfamily_domains:SSF53335,Pfam_domain:PF13679,hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF0	.	.	ENSP00000248306	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000248306	Transcript	.	.	ENSG00000127720	26228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.06)	.	MET25_HUMAN	METTL25	HGNC	F8VZA8_HUMAN	.	UPI000013CC3E	SNV	METTL25,missense_variant,p.His182Arg,ENST00000550058,;METTL25,missense_variant,p.His223Arg,ENST00000548200,;METTL25,missense_variant,p.His223Arg,ENST00000248306,;METTL25,upstream_gene_variant,,ENST00000550298,;METTL25,non_coding_transcript_exon_variant,,ENST00000551722,;METTL25,non_coding_transcript_exon_variant,,ENST00000547357,;	737	97	93	SUCCESS
AKAP11	11215	.	GRCh37	13	42874405	42874405	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	12	213	0	ENST00000025301.2:c.1523A>G	p.His508Arg	p.H508R	ENST00000025301	NM_016248.3	508	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9383.1	1523	MUTECT|MUSE	.	CCACCATACTA	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.142)	.	tolerated(0.36)	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,missense_variant,p.His508Arg,ENST00000025301,;	1698	213	213	SUCCESS
TRIM13	10206	.	GRCh37	13	50586458	50586458	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	10	122	0	ENST00000378182.3:c.382T>C	p.Phe128Leu	p.F128L	ENST00000378182	NM_213590.1	128	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS41888.1	391	MUTECT|MUSE	.	ATGTCTTCTGT	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF252,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:1freA00,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000348299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.255)	.	tolerated(0.32)	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,missense_variant,p.Phe128Leu,ENST00000378183,;TRIM13,missense_variant,p.Phe128Leu,ENST00000420995,;TRIM13,missense_variant,p.Phe131Leu,ENST00000356017,;TRIM13,missense_variant,p.Phe128Leu,ENST00000378182,;TRIM13,missense_variant,p.Phe128Leu,ENST00000457662,;TRIM13,missense_variant,p.Phe128Leu,ENST00000442421,;TRIM13,missense_variant,p.Phe131Leu,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	779	122	165	SUCCESS
CLN5	1203	.	GRCh37	13	77566329	77566329	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	80	0	ENST00000377453.3:c.243G>C	p.Leu81=	p.L81=	ENST00000377453	NM_006493.2	81	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9456.1	243	MUTECT|MUSE	.	GCGCTGCTTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15380:SF0,hmmpanther:PTHR15380	.	.	ENSP00000366673	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377453	Transcript	.	.	ENSG00000102805	2076	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLN5_HUMAN	CLN5	HGNC	B4E1V6_HUMAN	.	UPI0000127AD8	SNV	CLN5,synonymous_variant,p.%3D,ENST00000377453,;CLN5,non_coding_transcript_exon_variant,,ENST00000485938,;FBXL3,downstream_gene_variant,,ENST00000485797,;DHX9P1,downstream_gene_variant,,ENST00000436565,;	1535	80	79	SUCCESS
CEP170B	283638	.	GRCh37	14	105350819	105350819	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1038904275	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	71	166	0	ENST00000414716.3:c.1703G>A	p.Gly568Glu	p.G568E	ENST00000414716	NM_001112726.2	568	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45175.1	1703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGGACAT	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18	.	.	ENSP00000404151	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000414716	Transcript	.	.	ENSG00000099814	20362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	C170B_HUMAN	CEP170B	HGNC	E9PFC1_HUMAN	.	UPI00001FDCF7	SNV	CEP170B,missense_variant,p.Gly568Glu,ENST00000414716,;CEP170B,missense_variant,p.Gly498Glu,ENST00000556508,;CEP170B,missense_variant,p.Gly498Glu,ENST00000418279,;CEP170B,missense_variant,p.Gly569Glu,ENST00000453495,;	1931	166	159	SUCCESS
IGHV3-16	28447	.	GRCh37	14	106621914	106621914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	47	0	ENST00000390604.2:c.331G>T	p.Ala111Ser	p.A111S	ENST00000390604		111	Gct/Tct	0	.	.	.	.	.	A	A/S	IG_V_gene	YES	.	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCATGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF80,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375013	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390604	Transcript	.	.	ENSG00000211944	5583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious_low_confidence(0.01)	.	.	IGHV3-16	HGNC	.	.	UPI000011AADA	SNV	IGHV3-16,missense_variant,p.Ala111Ser,ENST00000390604,;IGHVII-15-1,upstream_gene_variant,,ENST00000517931,;	405	47	43	SUCCESS
IGHV4-59	28392	.	GRCh37	14	107083486	107083486	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782087510	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	420	28	493	1	ENST00000455737.1:c.118A>T	p.Thr40Ser	p.T40S	ENST00000455737		40	Acc/Tcc	0	.	.	.	.	.	A	T/S	IG_V_gene	YES	.	118	MUTECT|MUSE	.	GCAGGTGAGGG	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000410711	.	2/3	.	.	.	.	.	.	.	.	rs782087510	2/3	PASS	ENST00000455737	Transcript	.	.	ENSG00000224373	5654	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.199)	.	tolerated_low_confidence(0.05)	.	.	IGHV4-59	HGNC	Q86SX2_HUMAN	.	UPI0000161567	SNV	IGHV4-59,missense_variant,p.Thr40Ser,ENST00000390629,;IGHV4-59,missense_variant,p.Thr40Ser,ENST00000455737,;IGHV1-58,upstream_gene_variant,,ENST00000390628,;IGHV3-60,downstream_gene_variant,,ENST00000521678,;	158	494	449	SUCCESS
OR4N5	390437	.	GRCh37	14	20612471	20612471	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	64	0	ENST00000333629.1:c.577T>C	p.Phe193Leu	p.F193L	ENST00000333629	NM_001004724.1	193	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS32031.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTTTGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000332110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333629	Transcript	.	.	ENSG00000184394	15358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.171)	.	deleterious(0.01)	.	OR4N5_HUMAN	OR4N5	HGNC	.	.	UPI0000041C40	SNV	OR4N5,missense_variant,p.Phe193Leu,ENST00000333629,;RNA5SP381,downstream_gene_variant,,ENST00000516076,;PSMB7P1,upstream_gene_variant,,ENST00000556349,;	577	64	69	SUCCESS
OR11H4	390442	.	GRCh37	14	20711205	20711205	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	130	0	ENST00000315409.2:c.255C>G	p.Ser85=	p.S85=	ENST00000315409	NM_001004479.1	85	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS32034.1	255	MUTECT|MUSE	.	GTGTCCTCCAC	CODON|p.S85S|c.255C>T|3,BUFFER|p.S85P|c.253T>C|4,BUFFER|p.P89T|c.265C>A|11	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF99,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000318997	.	1/1	.	.	.	.	.	.	.	.	COSM81506	1/1	PASS	ENST00000315409	Transcript	.	.	ENSG00000176198	15347	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	O11H4_HUMAN	OR11H4	HGNC	.	.	UPI0000041C42	SNV	OR11H4,synonymous_variant,p.%3D,ENST00000315409,;	308	130	137	SUCCESS
NOP9	161424	.	GRCh37	14	24774183	24774183	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	42	126	1	ENST00000267425.3:c.1793A>T	p.His598Leu	p.H598L	ENST00000267425	NM_174913.1	598	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS9624.1	1793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCACCATG	NONE	.	.	hmmpanther:PTHR13102,hmmpanther:PTHR13102:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000267425	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000267425	Transcript	.	.	ENSG00000196943	19826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0.01)	.	NOP9_HUMAN	NOP9	HGNC	B3KVY3_HUMAN	.	UPI000000CBCF	SNV	NOP9,missense_variant,p.His598Leu,ENST00000267425,;NOP9,3_prime_UTR_variant,,ENST00000396802,;NOP9,intron_variant,,ENST00000557362,;LTB4R2,upstream_gene_variant,,ENST00000527924,;CIDEB,downstream_gene_variant,,ENST00000556756,;CIDEB,downstream_gene_variant,,ENST00000554411,;LTB4R2,upstream_gene_variant,,ENST00000528054,;CIDEB,downstream_gene_variant,,ENST00000336557,;CIDEB,downstream_gene_variant,,ENST00000258807,;	1886	127	133	SUCCESS
FANCM	57697	.	GRCh37	14	45658480	45658480	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	97	329	0	ENST00000267430.5:c.5255A>G	p.Asn1752Ser	p.N1752S	ENST00000267430	NM_020937.2	1752	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32070.1	5255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAATCATA	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Asn685Ser,ENST00000554809,;FANCM,missense_variant,p.Asn1726Ser,ENST00000542564,;FANCM,missense_variant,p.Asn1268Ser,ENST00000556250,;FANCM,missense_variant,p.Asn1752Ser,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	5340	329	275	SUCCESS
SIX6	4990	.	GRCh37	14	60976599	60976599	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	91	223	0	ENST00000327720.5:c.483C>A	p.Leu161=	p.L161=	ENST00000327720	NM_007374.2	161	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9747.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCGCCCA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR10390:SF12,hmmpanther:PTHR10390,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000328596	.	1/2	.	.	.	.	.	.	.	.	COSM956740	1/2	PASS	ENST00000327720	Transcript	.	.	ENSG00000184302	10892	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SIX6_HUMAN	SIX6	HGNC	Q6P051_HUMAN,Q5M8S8_HUMAN	.	UPI000013E4DB	SNV	SIX6,synonymous_variant,p.%3D,ENST00000327720,;C14orf39,intron_variant,,ENST00000556799,;	931	223	255	SUCCESS
MLH3	27030	.	GRCh37	14	75500136	75500136	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	55	0	ENST00000355774.2:c.3701A>T	p.Glu1234Val	p.E1234V	ENST00000355774	NM_001040108.1	1234	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS32123.1	3701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTCCAGA	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7,Pfam_domain:PF08676,SMART_domains:SM00853,Superfamily_domains:0050888	.	.	ENSP00000348020	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	SNV	MLH3,missense_variant,p.Glu258Val,ENST00000553713,;MLH3,missense_variant,p.Glu180Val,ENST00000380968,;MLH3,missense_variant,p.Glu1234Val,ENST00000556740,;MLH3,missense_variant,p.Glu1234Val,ENST00000355774,;MLH3,3_prime_UTR_variant,,ENST00000544985,;MLH3,intron_variant,,ENST00000556257,;MLH3,intron_variant,,ENST00000238662,;MLH3,non_coding_transcript_exon_variant,,ENST00000555499,;MLH3,3_prime_UTR_variant,,ENST00000555144,;MLH3,intron_variant,,ENST00000556453,;	3917	55	55	SUCCESS
SLIRP	81892	.	GRCh37	14	78174474	78174474	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	84	0	ENST00000557342.1:c.20G>A	p.Arg7Lys	p.R7K	ENST00000557342	NM_001267864.1	7	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS9866.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGAGAGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000450909	.	1/4	.	.	.	.	.	.	.	.	COSM3736118,COSM958212	1/4	PASS	ENST00000557342	Transcript	.	.	ENSG00000119705	20495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	tolerated(0.24)	1,1	SLIRP_HUMAN	SLIRP	HGNC	.	.	UPI00000527C9	SNV	SLIRP,missense_variant,p.Arg7Lys,ENST00000557342,;SLIRP,missense_variant,p.Arg7Lys,ENST00000238688,;SLIRP,missense_variant,p.Arg5Lys,ENST00000556831,;SLIRP,missense_variant,p.Arg7Lys,ENST00000557623,;SLIRP,missense_variant,p.Arg7Lys,ENST00000557431,;ALKBH1,upstream_gene_variant,,ENST00000216489,;SLIRP,upstream_gene_variant,,ENST00000556375,;SLIRP,upstream_gene_variant,,ENST00000553981,;ALKBH1,upstream_gene_variant,,ENST00000554097,;SLIRP,missense_variant,p.Arg7Lys,ENST00000555890,;SLIRP,non_coding_transcript_exon_variant,,ENST00000554074,;SLIRP,upstream_gene_variant,,ENST00000556956,;ALKBH1,upstream_gene_variant,,ENST00000555100,;ALKBH1,upstream_gene_variant,,ENST00000557057,;SLIRP,upstream_gene_variant,,ENST00000556310,;	61	84	87	SUCCESS
GPR176	11245	.	GRCh37	15	40093462	40093462	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	7	78	0	ENST00000561100.1:c.1419G>A	p.Lys473=	p.K473=	ENST00000561100	NM_007223.2	473	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS10051.1	1419	MUTECT|MUSE	.	AGCCGCTTCTT	NONE	.	.	hmmpanther:PTHR22752:SF1,hmmpanther:PTHR22752	.	.	ENSP00000453076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000561100	Transcript	.	.	ENSG00000166073	32370	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GP176_HUMAN	GPR176	HGNC	H9NIL9_HUMAN	.	UPI0000041346	SNV	GPR176,synonymous_variant,p.%3D,ENST00000543580,;GPR176,synonymous_variant,p.%3D,ENST00000561100,;GPR176,synonymous_variant,p.%3D,ENST00000299092,;RP11-37C7.1,non_coding_transcript_exon_variant,,ENST00000558616,;GPR176,downstream_gene_variant,,ENST00000558041,;GPR176,downstream_gene_variant,,ENST00000560729,;	2285	78	108	SUCCESS
CHST14	113189	.	GRCh37	15	40763663	40763663	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1176654221	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	471	231	520	0	ENST00000306243.5:c.251G>A	p.Arg84His	p.R84H	ENST00000306243	NM_130468.3	84	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10059.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGCGGGA	NONE	.	.	hmmpanther:PTHR12137:SF34,hmmpanther:PTHR12137	.	.	ENSP00000307297	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306243	Transcript	1	.	ENSG00000169105	24464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.11)	.	CHSTE_HUMAN	CHST14	HGNC	.	.	UPI000004616D	SNV	CHST14,missense_variant,p.Arg84His,ENST00000306243,;CHST14,missense_variant,p.Arg84His,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000416165,;BAHD1,downstream_gene_variant,,ENST00000561234,;RP11-64K12.8,upstream_gene_variant,,ENST00000559730,;	504	520	702	SUCCESS
CHST14	113189	.	GRCh37	15	40763664	40763664	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	463	229	515	0	ENST00000306243.5:c.252C>A	p.Arg84=	p.R84=	ENST00000306243	NM_130468.3	84	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS10059.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGCGGGAA	NONE	.	.	hmmpanther:PTHR12137:SF34,hmmpanther:PTHR12137	.	.	ENSP00000307297	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306243	Transcript	1	.	ENSG00000169105	24464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTE_HUMAN	CHST14	HGNC	.	.	UPI000004616D	SNV	CHST14,synonymous_variant,p.%3D,ENST00000306243,;CHST14,synonymous_variant,p.%3D,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000416165,;BAHD1,downstream_gene_variant,,ENST00000561234,;RP11-64K12.8,upstream_gene_variant,,ENST00000559730,;	505	515	692	SUCCESS
SEMA6D	80031	.	GRCh37	15	48063146	48063146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	10	136	0	ENST00000316364.5:c.2386C>T	p.His796Tyr	p.H796Y	ENST00000316364	NM_153618.1	796	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS32225.1	2386	MUTECT|MUSE	.	AGGCCCATGGC	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.222)	.	deleterious(0.01)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.His753Tyr,ENST00000389432,;SEMA6D,missense_variant,p.His734Tyr,ENST00000537942,;SEMA6D,missense_variant,p.His734Tyr,ENST00000358066,;SEMA6D,missense_variant,p.His740Tyr,ENST00000354744,;SEMA6D,missense_variant,p.His721Tyr,ENST00000389428,;SEMA6D,missense_variant,p.His796Tyr,ENST00000536845,;SEMA6D,missense_variant,p.His777Tyr,ENST00000389433,;SEMA6D,missense_variant,p.His734Tyr,ENST00000558014,;SEMA6D,missense_variant,p.His796Tyr,ENST00000316364,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	2825	136	165	SUCCESS
TRPM7	54822	.	GRCh37	15	50870833	50870833	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	68	0	ENST00000313478.7:c.4618+3G>T		p.X1540_splice	ENST00000313478	NM_017672.4	1540		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42035.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTCACCAT	NONE	.	.	.	.	.	ENSP00000320239	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	LOW	31/38	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,splice_region_variant,,ENST00000560955,;TRPM7,splice_region_variant,,ENST00000313478,;TRPM7,upstream_gene_variant,,ENST00000561267,;TRPM7,splice_region_variant,,ENST00000561443,;TRPM7,splice_region_variant,,ENST00000560849,;TRPM7,non_coding_transcript_exon_variant,,ENST00000558444,;TRPM7,upstream_gene_variant,,ENST00000560516,;	.	68	71	SUCCESS
NARG2	0	.	GRCh37	15	60747270	60747270	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201247512	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	99	0	ENST00000261520.4:c.875A>G	p.Asn292Ser	p.N292S	ENST00000261520	NM_024611.5	292	aAt/aGt	0	.	C:0.0008	.	C:0	.	C	N/S	protein_coding	YES	CCDS10176.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTATTTAAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633	C:0	.	ENSP00000261520	C:0	8/16	.	.	.	.	.	.	.	.	rs201247512	8/16	PASS	ENST00000261520	Transcript	.	C:0.0002	ENSG00000128915	29885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.406)	C:0	deleterious(0.04)	.	NARG2_HUMAN	NARG2	HGNC	H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN	.	UPI00001A828C	SNV	NARG2,missense_variant,p.Asn292Ser,ENST00000561114,;NARG2,missense_variant,p.Asn292Ser,ENST00000261520,;NARG2,missense_variant,p.Asn292Ser,ENST00000558512,;NARG2,missense_variant,p.Asn155Ser,ENST00000439632,;NARG2,downstream_gene_variant,,ENST00000561087,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,non_coding_transcript_exon_variant,,ENST00000558451,;NARG2,upstream_gene_variant,,ENST00000561328,;NARG2,downstream_gene_variant,,ENST00000560668,;NARG2,downstream_gene_variant,,ENST00000561446,;NARG2,downstream_gene_variant,,ENST00000560895,;	1110	99	112	SUCCESS
CLEC16A	23274	.	GRCh37	16	11217616	11217616	+	synonymous_variant	Silent	SNP	C	C	T	rs200993240	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	45	0	ENST00000409790.1:c.2286C>T	p.Gly762=	p.G762=	ENST00000409790	NM_015226.2	762	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45409.1	2286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCGTGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21481	.	.	ENSP00000387122	.	21/24	.	.	.	.	.	.	.	.	rs200993240	21/24	PASS	ENST00000409790	Transcript	.	.	ENSG00000038532	29013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL16A_HUMAN	CLEC16A	HGNC	.	.	UPI0000253BAD	SNV	CLEC16A,synonymous_variant,p.%3D,ENST00000409790,;CLEC16A,synonymous_variant,p.%3D,ENST00000428742,;CLEC16A,synonymous_variant,p.%3D,ENST00000409552,;CLEC16A,upstream_gene_variant,,ENST00000436973,;CLEC16A,upstream_gene_variant,,ENST00000381822,;CLEC16A,upstream_gene_variant,,ENST00000261657,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000465491,;CLEC16A,upstream_gene_variant,,ENST00000459723,;	2516	45	64	SUCCESS
RP11-1212A22.1	0	.	GRCh37	16	18437762	18437762	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	14	0	ENST00000525846.2:n.3427G>T		p.*1143*	ENST00000525846				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	CCGTCCCGCAG	NONE	.	.	.	.	.	.	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000525846	Transcript	.	.	ENSG00000205746	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-1212A22.1	Clone_based_vega_gene	.	.	.	SNV	NPIPA8,5_prime_UTR_variant,,ENST00000339303,;RP11-1212A22.1,non_coding_transcript_exon_variant,,ENST00000433020,;RP11-1212A22.1,downstream_gene_variant,,ENST00000539740,;RP11-1212A22.1,upstream_gene_variant,,ENST00000538220,;RP11-1212A22.1,upstream_gene_variant,,ENST00000545152,;RP11-1212A22.1,downstream_gene_variant,,ENST00000535716,;RP11-1212A22.1,non_coding_transcript_exon_variant,,ENST00000525846,;RP11-1212A22.1,non_coding_transcript_exon_variant,,ENST00000540339,;	3427	14	20	SUCCESS
TBX6	6911	.	GRCh37	16	30097548	30097548	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	31	129	0	ENST00000279386.2:c.1309T>G	p.Ter437GlyextTer81	p.*437Gext*81	ENST00000279386		437	Tga/Gga	0	.	.	.	.	.	C	*/G	protein_coding	YES	CCDS10670.1	1309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGTACA	NONE	.	.	.	.	.	ENSP00000378650	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000395224	Transcript	.	.	ENSG00000149922	11605	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBX6_HUMAN	TBX6	HGNC	.	.	UPI000013DBC7	SNV	TBX6,stop_lost,p.Ter437GlyextTer81,ENST00000395224,;TBX6,stop_lost,p.Ter437GlyextTer81,ENST00000279386,;PPP4C,downstream_gene_variant,,ENST00000562222,;PPP4C,downstream_gene_variant,,ENST00000279387,;PPP4C,downstream_gene_variant,,ENST00000562664,;PPP4C,downstream_gene_variant,,ENST00000561610,;TBX6,downstream_gene_variant,,ENST00000553607,;TBX6,3_prime_UTR_variant,,ENST00000567664,;PPP4C,downstream_gene_variant,,ENST00000563732,;PPP4C,downstream_gene_variant,,ENST00000567828,;PPP4C,downstream_gene_variant,,ENST00000566749,;PPP4C,downstream_gene_variant,,ENST00000564966,;PPP4C,downstream_gene_variant,,ENST00000567040,;PPP4C,downstream_gene_variant,,ENST00000568810,;PPP4C,downstream_gene_variant,,ENST00000563200,;PPP4C,downstream_gene_variant,,ENST00000567642,;PPP4C,downstream_gene_variant,,ENST00000563597,;	1369	129	154	SUCCESS
C16orf11	0	.	GRCh37	16	613776	613776	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs368085414	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	63	0	ENST00000409413.3:c.482C>A	p.Ser161Ter	p.S161*	ENST00000409413	NM_145270.2	161	tCg/tAg	0	T:0	T:0	.	T:0	.	A	S/*	protein_coding	YES	CCDS45365.1	482	MUTECT|MUSE|VARSCANS	.	TGAGTCGTGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR14678,hmmpanther:PTHR14678:SF2	T:0	T:0.0001	ENSP00000386499	T:0.001	2/3	.	.	.	.	.	.	.	.	rs368085414	2/3	PASS	ENST00000409413	Transcript	.	T:0.0002	ENSG00000161992	14139	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	CP011_HUMAN	C16orf11	HGNC	.	.	UPI000006F4B0	SNV	C16orf11,stop_gained,p.Ser161Ter,ENST00000409413,;NHLRC4,upstream_gene_variant,,ENST00000424439,;NHLRC4,upstream_gene_variant,,ENST00000540585,;PIGQ,upstream_gene_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000293874,;	761	63	58	SUCCESS
MYH8	4626	.	GRCh37	17	10304490	10304490	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	69	0	ENST00000403437.2:c.3127C>T	p.Gln1043Ter	p.Q1043*	ENST00000403437	NM_002472.2	1043	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11153.1	3127	MUTECT|MUSE	.	TTCTTGTTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Superfamily_domains:SSF90257	.	.	ENSP00000384330	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,stop_gained,p.Gln1043Ter,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3222	69	40	SUCCESS
MYH2	4620	.	GRCh37	17	10447325	10447325	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	45	148	1	ENST00000245503.5:c.542C>G	p.Ser181Cys	p.S181C	ENST00000245503	NM_017534.5	181	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS11156.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGATTCT	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,PROSITE_profiles:PS51456	.	.	ENSP00000245503	.	7/40	.	.	.	.	.	.	.	.	.	7/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.404)	.	deleterious(0)	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,missense_variant,p.Ser102Cys,ENST00000578017,;MYH2,missense_variant,p.Ser181Cys,ENST00000245503,;MYH2,missense_variant,p.Ser181Cys,ENST00000532183,;MYH2,missense_variant,p.Ser181Cys,ENST00000397183,;MYH2,missense_variant,p.Ser181Cys,ENST00000420805,;CTC-297N7.11,intron_variant,,ENST00000587182,;	927	149	71	SUCCESS
SMCR8	140775	.	GRCh37	17	18220404	18220404	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	125	0	ENST00000406438.3:c.1301G>A	p.Gly434Glu	p.G434E	ENST00000406438	NM_144775.2	434	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS11195.2	1301	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGAGATG	NONE	.	.	hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334	.	.	ENSP00000385025	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000406438	Transcript	.	.	ENSG00000176994	17921	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.142)	.	tolerated(0.42)	.	SMCR8_HUMAN	SMCR8	HGNC	.	.	UPI0000E0322D	SNV	SMCR8,missense_variant,p.Gly434Glu,ENST00000406438,;TOP3A,upstream_gene_variant,,ENST00000580095,;TOP3A,upstream_gene_variant,,ENST00000321105,;TOP3A,upstream_gene_variant,,ENST00000542570,;TOP3A,upstream_gene_variant,,ENST00000584887,;TOP3A,upstream_gene_variant,,ENST00000582230,;TOP3A,upstream_gene_variant,,ENST00000584669,;TOP3A,upstream_gene_variant,,ENST00000580713,;TOP3A,upstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000582981,;TOP3A,upstream_gene_variant,,ENST00000584582,;TOP3A,upstream_gene_variant,,ENST00000585031,;TOP3A,upstream_gene_variant,,ENST00000472959,;RPL21P121,downstream_gene_variant,,ENST00000439258,;RPL7AP65,downstream_gene_variant,,ENST00000418183,;	1781	125	81	SUCCESS
BLMH	642	.	GRCh37	17	28619000	28619000	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	15	0	ENST00000261714.6:c.-163C>G		p.*55*	ENST00000261714	NM_000386.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32604.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGGAGGC	NONE	.	.	.	.	.	ENSP00000261714	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000261714	Transcript	.	.	ENSG00000108578	1059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BLMH_HUMAN	BLMH	HGNC	K7EMJ3_HUMAN,J3KS79_HUMAN	.	UPI0000000C54	SNV	BLMH,5_prime_UTR_variant,,ENST00000261714,;BLMH,5_prime_UTR_variant,,ENST00000580709,;BLMH,upstream_gene_variant,,ENST00000394819,;BLMH,upstream_gene_variant,,ENST00000577623,;BLMH,upstream_gene_variant,,ENST00000584603,;BLMH,upstream_gene_variant,,ENST00000581037,;RNU6-1267P,upstream_gene_variant,,ENST00000410747,;BLMH,5_prime_UTR_variant,,ENST00000577290,;BLMH,non_coding_transcript_exon_variant,,ENST00000582749,;BLMH,upstream_gene_variant,,ENST00000578090,;	13	15	30	SUCCESS
P2RX1	5023	.	GRCh37	17	3806860	3806860	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367615874	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	26	0	ENST00000225538.3:c.590G>T	p.Arg197Leu	p.R197L	ENST00000225538	NM_002558.3	197	cGc/cTc	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS11040.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCGTGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF9,TIGRFAM_domain:TIGR00863,Gene3D:3h9vA02,Pfam_domain:PF00864	.	T:0	ENSP00000225538	.	6/12	.	.	.	.	.	.	.	.	rs367615874	6/12	PASS	ENST00000225538	Transcript	.	.	ENSG00000108405	8533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.06)	.	P2RX1_HUMAN	P2RX1	HGNC	Q71UK3_HUMAN,Q6PIW1_HUMAN,K4JYE8_HUMAN,D3DTJ7_HUMAN	.	UPI000000DAAB	SNV	P2RX1,missense_variant,p.Arg197Leu,ENST00000225538,;P2RX1,non_coding_transcript_exon_variant,,ENST00000572418,;P2RX1,downstream_gene_variant,,ENST00000571637,;P2RX1,downstream_gene_variant,,ENST00000576764,;	865	26	22	SUCCESS
LUC7L3	51747	.	GRCh37	17	48817694	48817694	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	59	86	0	ENST00000240304.1:c.194A>T	p.Asn65Ile	p.N65I	ENST00000240304	NM_006107.3	65	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS11573.1	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAATCTAC	NONE	.	.	Pfam_domain:PF03194,hmmpanther:PTHR12375	.	.	ENSP00000425092	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000505658	Transcript	.	.	ENSG00000108848	24309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.08)	.	LC7L3_HUMAN	LUC7L3	HGNC	U3KQT3_HUMAN,D6RHH0_HUMAN	.	UPI00000736F2	SNV	LUC7L3,missense_variant,p.Asn114Ile,ENST00000505619,;LUC7L3,missense_variant,p.Asn65Ile,ENST00000240304,;LUC7L3,missense_variant,p.Asn65Ile,ENST00000393227,;LUC7L3,missense_variant,p.Asn65Ile,ENST00000505658,;LUC7L3,5_prime_UTR_variant,,ENST00000544170,;LUC7L3,5_prime_UTR_variant,,ENST00000513025,;LUC7L3,5_prime_UTR_variant,,ENST00000510984,;LUC7L3,downstream_gene_variant,,ENST00000311571,;LUC7L3,missense_variant,p.Ile43Phe,ENST00000508482,;LUC7L3,3_prime_UTR_variant,,ENST00000507200,;LUC7L3,3_prime_UTR_variant,,ENST00000509335,;LUC7L3,3_prime_UTR_variant,,ENST00000504563,;LUC7L3,3_prime_UTR_variant,,ENST00000508045,;LUC7L3,non_coding_transcript_exon_variant,,ENST00000508218,;LUC7L3,non_coding_transcript_exon_variant,,ENST00000507503,;LUC7L3,downstream_gene_variant,,ENST00000506686,;LUC7L3,upstream_gene_variant,,ENST00000504065,;LUC7L3,upstream_gene_variant,,ENST00000511068,;	383	86	110	SUCCESS
CA10	56934	.	GRCh37	17	50235151	50235151	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	26	83	0	ENST00000285273.4:c.-5A>T		p.*2*	ENST00000285273	NM_001082533.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTGATTC	NONE	.	.	.	.	.	ENSP00000405388	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000451037	Transcript	.	.	ENSG00000154975	1369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH10_HUMAN	CA10	HGNC	I3L375_HUMAN,B4DGL6_HUMAN	.	UPI000000167C	SNV	CA10,5_prime_UTR_variant,,ENST00000285273,;CA10,5_prime_UTR_variant,,ENST00000575181,;CA10,5_prime_UTR_variant,,ENST00000340813,;CA10,5_prime_UTR_variant,,ENST00000451037,;CA10,5_prime_UTR_variant,,ENST00000442502,;CA10,intron_variant,,ENST00000570565,;CA10,non_coding_transcript_exon_variant,,ENST00000573294,;CA10,5_prime_UTR_variant,,ENST00000571371,;	937	83	101	SUCCESS
VEZF1	7716	.	GRCh37	17	56060489	56060489	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	76	0	ENST00000581208.1:c.299A>C	p.Lys100Thr	p.K100T	ENST00000581208	NM_007146.2	100	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS32687.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTTGATC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF319,hmmpanther:PTHR11389,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000462337	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000581208	Transcript	.	.	ENSG00000136451	12949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	VEZF1_HUMAN	VEZF1	HGNC	.	.	UPI000013D01B	SNV	VEZF1,missense_variant,p.Lys100Thr,ENST00000581208,;VEZF1,missense_variant,p.Lys91Thr,ENST00000584396,;VEZF1,5_prime_UTR_variant,,ENST00000583932,;VEZF1,upstream_gene_variant,,ENST00000258963,;	340	76	91	SUCCESS
RPTOR	57521	.	GRCh37	17	78704430	78704430	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	61	0	ENST00000306801.3:c.578T>C	p.Val193Ala	p.V193A	ENST00000306801	NM_020761.2	193	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11773.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCGTCTACG	NONE	.	.	hmmpanther:PTHR12848,Pfam_domain:PF14538,Prints_domain:PR01547	.	.	ENSP00000307272	.	5/34	.	.	.	.	.	.	.	.	COSM1387151	5/34	PASS	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious(0.01)	1	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,missense_variant,p.Val193Ala,ENST00000570891,;RPTOR,missense_variant,p.Val8Ala,ENST00000537330,;RPTOR,missense_variant,p.Val193Ala,ENST00000544334,;RPTOR,missense_variant,p.Val193Ala,ENST00000306801,;RPTOR,non_coding_transcript_exon_variant,,ENST00000572733,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;RPTOR,3_prime_UTR_variant,,ENST00000574767,;	940	61	76	SUCCESS
FSCN2	25794	.	GRCh37	17	79495626	79495626	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	56	132	0	ENST00000417245.2:c.69C>T	p.Tyr23=	p.Y23=	ENST00000417245	NM_012418.3	23	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS45810.1	69	RADIA|SOMATICSNIPER|VARSCANS	.	CGCTACCTGAC	NONE	.	.	hmmpanther:PTHR10551:SF4,hmmpanther:PTHR10551,Pfam_domain:PF06268,Gene3D:2.80.10.50,PIRSF_domain:PIRSF005682,Superfamily_domains:SSF50405	.	.	ENSP00000334665	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000334850	Transcript	.	.	ENSG00000186765	3960	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FSCN2_HUMAN	FSCN2	HGNC	.	.	UPI0000E5925D	SNV	FSCN2,synonymous_variant,p.%3D,ENST00000417245,;FSCN2,synonymous_variant,p.%3D,ENST00000334850,;ACTG1,upstream_gene_variant,,ENST00000575994,;RP13-766D20.2,downstream_gene_variant,,ENST00000430912,;RP13-766D20.2,downstream_gene_variant,,ENST00000442532,;	69	132	199	SUCCESS
LRRC45	201255	.	GRCh37	17	79981492	79981492	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	25	49	1	ENST00000306688.3:c.-28G>A		p.*10*	ENST00000306688	NM_144999.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11797.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CATGCGGAGGA	NONE	.	.	.	.	.	ENSP00000306760	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000306688	Transcript	.	.	ENSG00000169683	28302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRC45_HUMAN	LRRC45	HGNC	.	.	UPI000006EF33	SNV	LRRC45,5_prime_UTR_variant,,ENST00000306688,;STRA13,intron_variant,,ENST00000579520,;STRA13,upstream_gene_variant,,ENST00000392359,;STRA13,upstream_gene_variant,,ENST00000584347,;STRA13,upstream_gene_variant,,ENST00000580435,;STRA13,upstream_gene_variant,,ENST00000584600,;LRRC45,upstream_gene_variant,,ENST00000577638,;STRA13,upstream_gene_variant,,ENST00000306704,;LRRC45,non_coding_transcript_exon_variant,,ENST00000583383,;STRA13,upstream_gene_variant,,ENST00000580090,;STRA13,upstream_gene_variant,,ENST00000583767,;STRA13,upstream_gene_variant,,ENST00000584514,;STRA13,upstream_gene_variant,,ENST00000577379,;STRA13,upstream_gene_variant,,ENST00000585091,;LRRC45,upstream_gene_variant,,ENST00000583302,;LRRC45,upstream_gene_variant,,ENST00000581227,;	315	50	42	SUCCESS
FASN	2194	.	GRCh37	17	80038048	80038048	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs147197890	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	46	73	0	ENST00000306749.2:c.7114G>C	p.Val2372Leu	p.V2372L	ENST00000306749	NM_004104.4	2372	Gtg/Ctg	0	T:0.0002	T:0	.	T:0	.	G	V/L	protein_coding	YES	CCDS11801.1	7114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGAAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:2px6A02,Pfam_domain:PF00975,Superfamily_domains:SSF53474	T:0.001	T:0	ENSP00000304592	T:0	41/43	.	.	.	.	.	.	.	.	rs147197890	41/43	PASS	ENST00000306749	Transcript	.	T:0.0002	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	T:0	tolerated(0.22)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Val2372Leu,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,3_prime_UTR_variant,,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;	7333	73	95	SUCCESS
DSC1	1823	.	GRCh37	18	28719849	28719849	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	114	0	ENST00000257198.5:c.1525C>T	p.Gln509Ter	p.Q509*	ENST00000257198	NM_024421.2	509	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11894.1	1525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGATACC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF8,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR01820	.	.	ENSP00000257198	.	11/16	.	.	.	.	.	.	.	.	COSM3524951,COSM3524950	11/16	PASS	ENST00000257198	Transcript	.	.	ENSG00000134765	3035	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	DSC1_HUMAN	DSC1	HGNC	.	.	UPI000006DF10	SNV	DSC1,stop_gained,p.Gln509Ter,ENST00000257198,;DSC1,stop_gained,p.Gln509Ter,ENST00000257197,;RP11-408H20.2,intron_variant,,ENST00000581836,;	1787	114	106	SUCCESS
DSG3	1830	.	GRCh37	18	29052251	29052251	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	98	0	ENST00000257189.4:c.1902C>T	p.Ala634=	p.A634=	ENST00000257189	NM_001944.2	634	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11898.1	1902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCCCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	.	.	ENSP00000257189	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000257189	Transcript	.	.	ENSG00000134757	3050	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSG3_HUMAN	DSG3	HGNC	.	.	UPI000013CF4B	SNV	DSG3,synonymous_variant,p.%3D,ENST00000257189,;	1985	98	91	SUCCESS
NFATC1	4772	.	GRCh37	18	77208981	77208981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	40	85	0	ENST00000427363.2:c.1586C>A	p.Ala529Asp	p.A529D	ENST00000427363		529	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS32850.1	1547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGCCGTGT	NONE	.	.	PROSITE_profiles:PS50254,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF5,Pfam_domain:PF00554,Gene3D:2.60.40.340,Superfamily_domains:SSF49417	.	.	ENSP00000327850	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000329101	Transcript	.	.	ENSG00000131196	7775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	NFAC1_HUMAN	NFATC1	HGNC	F5H4S8_HUMAN	.	UPI000002AF02	SNV	NFATC1,missense_variant,p.Ala529Asp,ENST00000542384,;NFATC1,missense_variant,p.Ala516Asp,ENST00000586434,;NFATC1,missense_variant,p.Ala529Asp,ENST00000253506,;NFATC1,missense_variant,p.Ala516Asp,ENST00000329101,;NFATC1,missense_variant,p.Ala516Asp,ENST00000592223,;NFATC1,missense_variant,p.Ala529Asp,ENST00000427363,;NFATC1,missense_variant,p.Ala516Asp,ENST00000318065,;NFATC1,missense_variant,p.Ala57Asp,ENST00000545796,;NFATC1,missense_variant,p.Ala529Asp,ENST00000591814,;NFATC1,missense_variant,p.Ala529Asp,ENST00000587635,;NFATC1,missense_variant,p.Ala57Asp,ENST00000397790,;NFATC1,non_coding_transcript_exon_variant,,ENST00000590224,;NFATC1,3_prime_UTR_variant,,ENST00000590313,;NFATC1,non_coding_transcript_exon_variant,,ENST00000591065,;NFATC1,upstream_gene_variant,,ENST00000591089,;	1603	85	80	SUCCESS
COL5A3	50509	.	GRCh37	19	10092740	10092740	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	94	0	ENST00000264828.3:c.2460+1G>A		p.X820_splice	ENST00000264828	NM_015719.3	820		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12222.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCGACT	NONE	.	.	.	.	.	ENSP00000264828	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	HIGH	32/66	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,splice_donor_variant,,ENST00000264828,;	.	94	108	SUCCESS
C19orf80	0	.	GRCh37	19	11350417	11350428	+	inframe_deletion	In_Frame_Del	DEL	TGACCCTGCTCT	TGACCCTGCTCT	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	TGACCCTGCTCT	TGACCCTGCTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	109	0	ENST00000252453.8:c.105_116del	p.Thr36_Phe39del	p.T36_F39del	ENST00000252453	NM_018687.6	35	cTGACCCTGCTCTtc/ctc	0	.	.	.	.	.	-	LTLLF/L	protein_coding	YES	CCDS54220.1	104-115	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGAGCTGACCCTGCTCTTCCAT	NONE	.	.	hmmpanther:PTHR21463	.	.	ENSP00000252453	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252453	Transcript	.	.	ENSG00000130173	24933	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BETAT_HUMAN	C19orf80	HGNC	K7EIY2_HUMAN	.	UPI000003F538	deletion	C19orf80,inframe_deletion,p.Thr36_Phe39del,ENST00000252453,;C19orf80,intron_variant,,ENST00000591200,;DOCK6,intron_variant,,ENST00000294618,;DOCK6,upstream_gene_variant,,ENST00000590680,;C19orf80,upstream_gene_variant,,ENST00000587543,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000585904,;DOCK6,upstream_gene_variant,,ENST00000591750,;	123-134	109	114	SUCCESS
CYP4F3	4051	.	GRCh37	19	15758109	15758109	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	105	0	ENST00000221307.8:c.500T>C	p.Phe167Ser	p.F167S	ENST00000221307	NM_000896.2	167	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS12332.1	500	MUTECT|MUSE	.	GATTTTCAATG	NONE	.	.	hmmpanther:PTHR24290:SF46,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000221307	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000221307	Transcript	.	.	ENSG00000186529	2646	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CP4F3_HUMAN	CYP4F3	HGNC	B7Z5A8_HUMAN	.	UPI0000052BE3	SNV	CYP4F3,missense_variant,p.Phe167Ser,ENST00000585846,;CYP4F3,missense_variant,p.Phe167Ser,ENST00000221307,;CYP4F3,missense_variant,p.Phe167Ser,ENST00000591058,;CYP4F3,missense_variant,p.Phe167Ser,ENST00000586182,;CYP4F3,3_prime_UTR_variant,,ENST00000587360,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,upstream_gene_variant,,ENST00000592424,;CYP4F3,downstream_gene_variant,,ENST00000609670,;	547	105	107	SUCCESS
C19orf44	84167	.	GRCh37	19	16613993	16613993	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199764040	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	33	143	1	ENST00000221671.3:c.877C>T	p.Arg293Cys	p.R293C	ENST00000221671	NM_032207.2	293	Cgc/Tgc	0	.	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS12345.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCGCTCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22409:SF2,hmmpanther:PTHR22409	T:0.003	.	ENSP00000221671	T:0	3/9	.	.	.	.	.	.	.	.	rs199764040,COSM148528	3/9	common_in_exac	ENST00000221671	Transcript	.	T:0.0006	ENSG00000105072	26141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.036)	T:0	tolerated(0.2)	0,1	CS044_HUMAN	C19orf44	HGNC	M0R1E2_HUMAN,M0QXR9_HUMAN,B4DN63_HUMAN	.	UPI0000070DFC	SNV	C19orf44,missense_variant,p.Arg293Cys,ENST00000594035,;C19orf44,missense_variant,p.Arg293Cys,ENST00000221671,;C19orf44,downstream_gene_variant,,ENST00000594813,;C19orf44,downstream_gene_variant,,ENST00000599550,;C19orf44,missense_variant,p.Arg293Cys,ENST00000593380,;C19orf44,intron_variant,,ENST00000596592,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	1033	144	137	SUCCESS
ADAT3	113179	.	GRCh37	19	1912991	1912991	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	70	0	ENST00000602400.1:c.897G>T	p.Val299=	p.V299=	ENST00000602400		299	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12076.2	945	MUTECT|MUSE	.	CTGGTGCACGC	BUFFER|p.L298L|c.892C>T|7	.	.	Superfamily_domains:SSF53927,Pfam_domain:PF00383,Gene3D:3.40.140.10,hmmpanther:PTHR11079:SF3,hmmpanther:PTHR11079	.	.	ENSP00000332448	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329478	Transcript	1	.	ENSG00000213638	25151	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ADAT3	HGNC	D6W601_HUMAN,C9JFC1_HUMAN	.	UPI00003749C2	SNV	ADAT3,synonymous_variant,p.%3D,ENST00000329478,;ADAT3,synonymous_variant,p.%3D,ENST00000602400,;SCAMP4,intron_variant,,ENST00000409472,;SCAMP4,intron_variant,,ENST00000411971,;SCAMP4,intron_variant,,ENST00000316097,;ADAT3,downstream_gene_variant,,ENST00000454697,;SCAMP4,upstream_gene_variant,,ENST00000590266,;SCAMP4,intron_variant,,ENST00000588907,;SCAMP4,intron_variant,,ENST00000460767,;SCAMP4,intron_variant,,ENST00000414057,;SCAMP4,intron_variant,,ENST00000489554,;SCAMP4,intron_variant,,ENST00000452128,;	1165	70	77	SUCCESS
ATP13A1	57130	.	GRCh37	19	19756765	19756765	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	27	0	ENST00000357324.6:c.3278A>C	p.Glu1093Ala	p.E1093A	ENST00000357324	NM_020410.2	1093	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS32970.2	3278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTCCTTG	NONE	.	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82	.	.	ENSP00000349877	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	deleterious(0.02)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Glu975Ala,ENST00000291503,;ATP13A1,missense_variant,p.Glu1093Ala,ENST00000357324,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000203556,;GMIP,upstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000445806,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	3305	27	26	SUCCESS
ATP13A1	57130	.	GRCh37	19	19757066	19757066	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	102	0	ENST00000357324.6:c.3196T>G	p.Phe1066Val	p.F1066V	ENST00000357324	NM_020410.2	1066	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS32970.2	3196	MUTECT|MUSE	.	CAGGAAGTGCA	NONE	.	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82,Transmembrane_helices:TMhelix	.	.	ENSP00000349877	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	tolerated(0.12)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Phe948Val,ENST00000291503,;ATP13A1,missense_variant,p.Phe1066Val,ENST00000357324,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000203556,;GMIP,upstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000445806,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;ATP13A1,downstream_gene_variant,,ENST00000491221,;	3223	102	106	SUCCESS
THOP1	7064	.	GRCh37	19	2785573	2785573	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	60	110	0	ENST00000307741.6:c.-88G>A		p.*30*	ENST00000307741	NM_003249.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12095.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGCCGAG	NONE	.	.	.	.	.	ENSP00000304467	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	SNV	THOP1,5_prime_UTR_variant,,ENST00000585338,;THOP1,5_prime_UTR_variant,,ENST00000307741,;SGTA,upstream_gene_variant,,ENST00000589251,;SGTA,upstream_gene_variant,,ENST00000221566,;THOP1,non_coding_transcript_exon_variant,,ENST00000586780,;THOP1,non_coding_transcript_exon_variant,,ENST00000585673,;SGTA,upstream_gene_variant,,ENST00000586711,;	116	110	125	SUCCESS
TSHZ3	57616	.	GRCh37	19	31769256	31769256	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	59	0	ENST00000240587.4:c.1443T>C	p.Thr481=	p.T481=	ENST00000240587	NM_020856.2	481	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12421.2	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCAGTGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,synonymous_variant,p.%3D,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	1771	59	65	SUCCESS
KMT2B	9757	.	GRCh37	19	36216399	36216399	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	29	0	ENST00000222270.7:c.3662G>T	p.Cys1221Phe	p.C1221F	ENST00000222270	NM_014727.1	1221	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS46055.1	3662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGCTGTG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354,SMART_domains:SM00249	.	.	ENSP00000222270	.	12/37	.	.	.	.	.	.	.	.	.	12/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Cys1221Phe,ENST00000420124,;KMT2B,missense_variant,p.Cys1221Phe,ENST00000222270,;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;	3662	29	23	SUCCESS
ZNF541	84215	.	GRCh37	19	48048805	48048805	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	49	147	1	ENST00000391901.3:c.981A>T	p.Pro327=	p.P327=	ENST00000391901	NM_001277075.1	327	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	.	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGGGGC	NONE	.	.	hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23	.	.	ENSP00000313258	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000314121	Transcript	.	.	ENSG00000118156	25294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN541_HUMAN	ZNF541	HGNC	.	.	UPI0001837EA0	SNV	ZNF541,synonymous_variant,p.%3D,ENST00000314121,;ZNF541,synonymous_variant,p.%3D,ENST00000448976,;ZNF541,synonymous_variant,p.%3D,ENST00000391901,;ZNF541,upstream_gene_variant,,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000595558,;ZNF541,upstream_gene_variant,,ENST00000487275,;	981	148	157	SUCCESS
SIGLEC6	946	.	GRCh37	19	52031019	52031019	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	66	0	ENST00000425629.3:c.1170C>A	p.Val390=	p.V390=	ENST00000425629	NM_001245.5	390	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12834.3	1170	MUTECT|MUSE|VARSCANS	.	ACCATGACGGG	NONE	.	.	.	.	.	ENSP00000401502	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,synonymous_variant,p.%3D,ENST00000436458,;SIGLEC6,synonymous_variant,p.%3D,ENST00000425629,;SIGLEC6,synonymous_variant,p.%3D,ENST00000346477,;SIGLEC6,intron_variant,,ENST00000391797,;SIGLEC6,intron_variant,,ENST00000359982,;SIGLEC6,intron_variant,,ENST00000343300,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000474054,;SIGLEC6,downstream_gene_variant,,ENST00000489837,;SIGLEC6,downstream_gene_variant,,ENST00000496422,;	1325	66	52	SUCCESS
MIRLET7E	406887	.	GRCh37	19	52196097	52196097	+	mature_miRNA_variant	RNA	SNP	G	G	T	rs752517215	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	110	0	ENST00000362102.1:n.59G>T		p.*20*	ENST00000362102				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACGGCCTC	NONE	byFrequency	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs752517215	1/1	PASS	ENST00000362102	Transcript	.	.	ENSG00000198972	31482	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIRLET7E	HGNC	.	.	.	SNV	MIRLET7E,mature_miRNA_variant,,ENST00000362102,;SPACA6P-AS,non_coding_transcript_exon_variant,,ENST00000602324,;SPACA6P,upstream_gene_variant,,ENST00000576093,;SPACA6P,upstream_gene_variant,,ENST00000573266,;MIR99B,downstream_gene_variant,,ENST00000384819,;MIR125A,upstream_gene_variant,,ENST00000385273,;SPACA6P,upstream_gene_variant,,ENST00000574072,;SPACA6P,upstream_gene_variant,,ENST00000576494,;SPACA6P,upstream_gene_variant,,ENST00000571328,;AC018755.2,upstream_gene_variant,,ENST00000331594,;	59	110	121	SUCCESS
PRKCG	5582	.	GRCh37	19	54395040	54395040	+	synonymous_variant	Silent	SNP	G	G	T	rs77550964	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	64	123	0	ENST00000263431.3:c.642G>T	p.Thr214=	p.T214=	ENST00000263431	NM_002739.3	214	acG/acT	0	A:0.0002	A:0	.	A:0	.	T	T	protein_coding	YES	CCDS12867.1	642	RADIA|MUTECT|MUSE	.	CGAACGGTGAA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49562,PIRSF_domain:PIRSF000550,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50004	A:0	A:0.0002	ENSP00000263431	A:0.002	6/18	.	.	.	.	.	.	.	.	rs77550964	6/18	PASS	ENST00000263431	Transcript	1	A:0.0004	ENSG00000126583	9402	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,synonymous_variant,p.%3D,ENST00000542049,;PRKCG,synonymous_variant,p.%3D,ENST00000540413,;PRKCG,synonymous_variant,p.%3D,ENST00000474397,;PRKCG,synonymous_variant,p.%3D,ENST00000536044,;PRKCG,synonymous_variant,p.%3D,ENST00000263431,;PRKCG,downstream_gene_variant,,ENST00000419486,;PRKCG,downstream_gene_variant,,ENST00000479081,;	924	123	164	SUCCESS
TRAPPC2P1	0	.	GRCh37	19	57876259	57876259	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751877924	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	7	104	0	ENST00000543226.1:c.58A>G	p.Met20Val	p.M20V	ENST00000543226		20	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	.	58	MUTECT|MUSE	.	TTGAAATGGAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF64356,Pfam_domain:PF04628,Gene3D:2j3wA00,hmmpanther:PTHR12403:SF13,hmmpanther:PTHR12403	.	.	ENSP00000442778	.	2/2	.	.	.	.	.	.	.	.	rs751877924	2/2	PASS	ENST00000543226	Transcript	1	.	ENSG00000256060	10710	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.2)	.	TPC2B_HUMAN	TRAPPC2P1	HGNC	Q6IBE5_HUMAN,E5RFG0_HUMAN	.	UPI000000162E	SNV	TRAPPC2P1,missense_variant,p.Met20Val,ENST00000543226,;TRAPPC2P1,missense_variant,p.Met20Val,ENST00000596755,;AC003002.4,intron_variant,,ENST00000597658,;ZNF547,intron_variant,,ENST00000282282,;ZNF304,downstream_gene_variant,,ENST00000282286,;ZNF547,upstream_gene_variant,,ENST00000599604,;ZNF304,downstream_gene_variant,,ENST00000391705,;ZNF547,intron_variant,,ENST00000595335,;	270	104	137	SUCCESS
ZSCAN22	342945	.	GRCh37	19	58850111	58850111	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	91	0	ENST00000329665.4:c.895A>T	p.Ser299Cys	p.S299C	ENST00000329665	NM_181846.2	299	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12975.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCGAG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23226:SF59,hmmpanther:PTHR23226,PROSITE_profiles:PS50157	.	.	ENSP00000332433	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329665	Transcript	.	.	ENSG00000182318	4929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.01)	.	ZSC22_HUMAN	ZSCAN22	HGNC	.	.	UPI00001A9CCE	SNV	ZSCAN22,missense_variant,p.Ser299Cys,ENST00000329665,;	1042	91	89	SUCCESS
RANBP3	8498	.	GRCh37	19	5925741	5925741	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781006426	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	30	0	ENST00000340578.6:c.821A>T	p.Asn274Ile	p.N274I	ENST00000340578	NM_007322.2	274	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS42478.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATTTATC	NONE	.	.	hmmpanther:PTHR23138:SF91,hmmpanther:PTHR23138	.	.	ENSP00000341483	.	10/17	.	.	.	.	.	.	.	.	rs781006426	10/17	PASS	ENST00000340578	Transcript	.	.	ENSG00000031823	9850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	deleterious(0)	.	RANB3_HUMAN	RANBP3	HGNC	K7ESQ0_HUMAN,K7EMH9_HUMAN,K7EIJ4_HUMAN	.	UPI000006F919	SNV	RANBP3,missense_variant,p.Asn201Ile,ENST00000591092,;RANBP3,missense_variant,p.Asn146Ile,ENST00000541471,;RANBP3,missense_variant,p.Asn206Ile,ENST00000034275,;RANBP3,missense_variant,p.Asn269Ile,ENST00000439268,;RANBP3,missense_variant,p.Asn274Ile,ENST00000340578,;RANBP3,missense_variant,p.Asn146Ile,ENST00000591736,;RANBP3,5_prime_UTR_variant,,ENST00000590623,;RANBP3,5_prime_UTR_variant,,ENST00000592621,;RANBP3,intron_variant,,ENST00000587479,;RANBP3,downstream_gene_variant,,ENST00000587159,;RANBP3,downstream_gene_variant,,ENST00000588879,;RANBP3,downstream_gene_variant,,ENST00000590953,;RANBP3,3_prime_UTR_variant,,ENST00000592771,;RANBP3,non_coding_transcript_exon_variant,,ENST00000587411,;RANBP3,non_coding_transcript_exon_variant,,ENST00000587799,;RANBP3,non_coding_transcript_exon_variant,,ENST00000593025,;RANBP3,non_coding_transcript_exon_variant,,ENST00000586344,;RANBP3,upstream_gene_variant,,ENST00000592197,;	879	30	23	SUCCESS
TRIP10	9322	.	GRCh37	19	6743800	6743800	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1285236791	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	122	1	ENST00000313244.9:c.595C>T	p.Arg199Ter	p.R199*	ENST00000313244		199	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS12172.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACCGAGAC	NONE	.	.	hmmpanther:PTHR12602:SF7,hmmpanther:PTHR12602,Superfamily_domains:SSF103657	.	.	ENSP00000320493	.	7/14	.	.	.	.	.	.	.	.	COSM1003025,COSM1003026	7/14	PASS	ENST00000313285	Transcript	.	.	ENSG00000125733	12304	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CIP4_HUMAN	TRIP10	HGNC	M0R0F9_HUMAN,M0R070_HUMAN	.	UPI00001279E3	SNV	TRIP10,stop_gained,p.Arg199Ter,ENST00000313285,;TRIP10,stop_gained,p.Arg199Ter,ENST00000596758,;TRIP10,stop_gained,p.Arg91Ter,ENST00000600428,;TRIP10,stop_gained,p.Arg199Ter,ENST00000313244,;TRIP10,downstream_gene_variant,,ENST00000596673,;CTD-3128G10.6,downstream_gene_variant,,ENST00000594056,;TRIP10,downstream_gene_variant,,ENST00000596543,;TRIP10,downstream_gene_variant,,ENST00000601303,;TRIP10,stop_gained,p.Arg199Ter,ENST00000600677,;TRIP10,non_coding_transcript_exon_variant,,ENST00000596078,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595319,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595305,;TRIP10,non_coding_transcript_exon_variant,,ENST00000600491,;TRIP10,upstream_gene_variant,,ENST00000598843,;	677	123	109	SUCCESS
CSDE1	7812	.	GRCh37	1	115267860	115267860	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	31	110	0	ENST00000438362.2:c.1873G>A	p.Val625Met	p.V625M	ENST00000438362	NM_001242891.1	625	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS55626.1	1873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCACTTTTT	NONE	.	.	Superfamily_domains:SSF50249,SMART_domains:SM00357,Pfam_domain:PF00313,Gene3D:2.40.50.140,hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	.	.	ENSP00000407724	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000438362	Transcript	.	.	ENSG00000009307	29905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	.	CSDE1	HGNC	Q9UG93_HUMAN,G5E9Q2_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN	.	UPI0000D99B0F	SNV	CSDE1,missense_variant,p.Val594Met,ENST00000369530,;CSDE1,missense_variant,p.Val548Met,ENST00000261443,;CSDE1,missense_variant,p.Val579Met,ENST00000358528,;CSDE1,missense_variant,p.Val548Met,ENST00000339438,;CSDE1,missense_variant,p.Val449Met,ENST00000530886,;CSDE1,missense_variant,p.Val579Met,ENST00000534699,;CSDE1,missense_variant,p.Val625Met,ENST00000438362,;Y_RNA,upstream_gene_variant,,ENST00000365030,;CSDE1,non_coding_transcript_exon_variant,,ENST00000483030,;CSDE1,upstream_gene_variant,,ENST00000530784,;	2252	110	118	SUCCESS
C1orf158	93190	.	GRCh37	1	12820859	12820859	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750241731	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	65	0	ENST00000288048.5:c.560G>T	p.Arg187Leu	p.R187L	ENST00000288048	NM_152290.2	187	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS147.1	560	RADIA|MUTECT|MUSE	.	CCATCGCCTGC	NONE	byFrequency	.	hmmpanther:PTHR31180	.	.	ENSP00000288048	.	4/4	.	.	.	.	.	.	.	.	rs750241731,COSM2181019,COSM145165	4/4	PASS	ENST00000288048	Transcript	.	.	ENSG00000157330	28567	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.831)	.	tolerated(0.16)	0,1,1	CA158_HUMAN	C1orf158	HGNC	.	.	UPI000013DEE6	SNV	C1orf158,missense_variant,p.Arg149Leu,ENST00000376210,;C1orf158,missense_variant,p.Arg187Leu,ENST00000288048,;	776	65	71	SUCCESS
PRAMEF18	391003	.	GRCh37	1	13475241	13475241	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	94	0	ENST00000376126.2:c.888G>A	p.Glu296=	p.E296=	ENST00000376126	NM_001099850.1	296	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS41258.1	888	RADIA|VARSCANS	.	AATGTCTCCAA	NONE	.	.	hmmpanther:PTHR14224:SF5,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000365294	.	3/3	.	.	.	.	.	.	.	.	COSM894981	3/3	PASS	ENST00000376126	Transcript	.	.	ENSG00000204491	30693	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PRA18_HUMAN	PRAMEF18	HGNC	.	.	UPI00002521C0	SNV	PRAMEF18,synonymous_variant,p.%3D,ENST00000376126,;	888	94	75	SUCCESS
RPTN	126638	.	GRCh37	1	152128252	152128252	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767126564	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	41	101	0	ENST00000316073.3:c.1323G>T	p.Gln441His	p.Q441H	ENST00000316073	NM_001122965.1	441	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS41397.1	1323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCTGACC	NONE	.	.	hmmpanther:PTHR22571:SF22,hmmpanther:PTHR22571	.	.	ENSP00000317895	.	3/3	.	.	.	.	.	.	.	.	rs767126564	3/3	PASS	ENST00000316073	Transcript	.	.	ENSG00000215853	26809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	RPTN_HUMAN	RPTN	HGNC	Q8N1M7_HUMAN,Q2M1U7_HUMAN	.	UPI00002371E2	SNV	RPTN,missense_variant,p.Gln441His,ENST00000316073,;	1388	101	188	SUCCESS
RAB13	5872	.	GRCh37	1	153955327	153955327	+	intron_variant	Intron	SNP	G	G	A	rs753632958	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	15	200	0	ENST00000368575.3:c.325-43C>T		p.*109*	ENST00000368575	NM_002870.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1058.1	.	MUTECT|MUSE	.	GCTGGGAGCGG	NONE	.	.	.	.	.	ENSP00000357564	.	.	.	.	.	.	.	.	.	.	rs753632958	.	PASS	ENST00000368575	Transcript	.	.	ENSG00000143545	9762	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB13_HUMAN	RAB13	HGNC	Q504R6_HUMAN	.	UPI0000001264	SNV	RAB13,intron_variant,,ENST00000368575,;RP11-422P24.11,downstream_gene_variant,,ENST00000608236,;RAB13,non_coding_transcript_exon_variant,,ENST00000462680,;RAB13,intron_variant,,ENST00000495720,;RAB13,intron_variant,,ENST00000484297,;	.	200	302	SUCCESS
SCYL3	57147	.	GRCh37	1	169823447	169823447	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	78	0	ENST00000367770.1:c.2133G>A	p.Gln711=	p.Q711=	ENST00000367770		711	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS1287.1	2133	MUTECT|MUSE	.	GAAAACTGCAT	NONE	.	.	hmmpanther:PTHR12984:SF13,hmmpanther:PTHR12984	.	.	ENSP00000356746	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000367772	Transcript	.	.	ENSG00000000457	19285	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PACE1_HUMAN	SCYL3	HGNC	.	.	UPI00001AE580	SNV	SCYL3,synonymous_variant,p.%3D,ENST00000367770,;SCYL3,synonymous_variant,p.%3D,ENST00000367771,;SCYL3,synonymous_variant,p.%3D,ENST00000367772,;C1orf112,downstream_gene_variant,,ENST00000286031,;C1orf112,downstream_gene_variant,,ENST00000359326,;SCYL3,downstream_gene_variant,,ENST00000423670,;C1orf112,downstream_gene_variant,,ENST00000459772,;C1orf112,downstream_gene_variant,,ENST00000498289,;SCYL3,downstream_gene_variant,,ENST00000470238,;	2331	78	65	SUCCESS
SMG7	9887	.	GRCh37	1	183441679	183441679	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	70	0	ENST00000347615.2:c.-77G>T		p.*26*	ENST00000347615	NM_173156.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41445.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCGGTGCC	NONE	.	.	.	.	.	ENSP00000425133	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,5_prime_UTR_variant,,ENST00000507691,;SMG7,5_prime_UTR_variant,,ENST00000419169,;SMG7,5_prime_UTR_variant,,ENST00000367537,;SMG7,5_prime_UTR_variant,,ENST00000507469,;SMG7,5_prime_UTR_variant,,ENST00000347615,;SMG7,5_prime_UTR_variant,,ENST00000456731,;SMG7,5_prime_UTR_variant,,ENST00000515829,;SMG7,5_prime_UTR_variant,,ENST00000508461,;SMG7,upstream_gene_variant,,ENST00000502375,;SMG7-AS1,upstream_gene_variant,,ENST00000432837,;SMG7-AS1,upstream_gene_variant,,ENST00000421703,;SMG7,5_prime_UTR_variant,,ENST00000440812,;SMG7,5_prime_UTR_variant,,ENST00000444547,;SMG7,upstream_gene_variant,,ENST00000367538,;	42	70	108	SUCCESS
HMCN1	83872	.	GRCh37	1	186113435	186113435	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	9	116	0	ENST00000271588.4:c.14055A>C	p.Ala4685=	p.A4685=	ENST00000271588	NM_031935.2	4685	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS30956.1	14055	MUTECT|MUSE	.	GGAGCAGAAAC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000271588	.	90/107	.	.	.	.	.	.	.	.	.	90/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	14284	116	150	SUCCESS
PRELP	5549	.	GRCh37	1	203455845	203455845	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs370346520	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	69	0	ENST00000343110.2:c.985A>G	p.Thr329Ala	p.T329A	ENST00000343110	NM_201348.1	329	Acc/Gcc	0	G:0.0002	.	.	.	.	G	T/A	protein_coding	YES	CCDS1438.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGAACCCAG	NONE	byCluster	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF15,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	G:0	ENSP00000343924	.	3/3	.	.	.	.	.	.	.	.	rs370346520	3/3	PASS	ENST00000343110	Transcript	.	.	ENSG00000188783	9357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.02)	.	PRELP_HUMAN	PRELP	HGNC	Q7Z4B2_HUMAN	.	UPI000013222E	SNV	PRELP,missense_variant,p.Thr329Ala,ENST00000343110,;	1112	70	116	SUCCESS
RASSF5	83593	.	GRCh37	1	206681239	206681239	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	39	0	ENST00000355294.4:c.304G>C	p.Asp102His	p.D102H	ENST00000355294	NM_182663.2	102	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS30998.1	304	MUTECT|MUSE	.	CCCGCGACGTG	NONE	.	.	hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF9	.	.	ENSP00000347443	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000355294	Transcript	.	.	ENSG00000136653	17609	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	RASF5_HUMAN	RASSF5	HGNC	.	.	UPI0000072CF5	SNV	RASSF5,missense_variant,p.Asp102His,ENST00000367117,;RASSF5,missense_variant,p.Asp102His,ENST00000355294,;RP11-534L20.5,downstream_gene_variant,,ENST00000562504,;	361	39	53	SUCCESS
RRP15	51018	.	GRCh37	1	218480862	218480862	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202205037	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	102	0	ENST00000366932.3:c.593G>A	p.Arg198His	p.R198H	ENST00000366932	NM_016052.3	198	cGt/cAt	0	.	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS1520.2	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGTGCTA	NONE	byCluster|by1000G	.	Pfam_domain:PF07890,hmmpanther:PTHR13245	A:0	.	ENSP00000355899	A:0	4/5	.	.	.	.	.	.	.	.	rs202205037	4/5	PASS	ENST00000366932	Transcript	.	A:0.0002	ENSG00000067533	24255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	A:0	deleterious(0.04)	.	RRP15_HUMAN	RRP15	HGNC	.	.	UPI0000205BC1	SNV	RRP15,missense_variant,p.Arg198His,ENST00000366932,;RRP15,downstream_gene_variant,,ENST00000491428,;	623	102	123	SUCCESS
NLRP3	114548	.	GRCh37	1	247587388	247587388	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	35	163	0	ENST00000336119.3:c.643C>A	p.His215Asn	p.H215N	ENST00000336119	NM_001127462.2	215	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS1632.1	643	RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGCATTCT	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.25)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.His215Asn,ENST00000366496,;NLRP3,missense_variant,p.His215Asn,ENST00000336119,;NLRP3,missense_variant,p.His215Asn,ENST00000391827,;NLRP3,missense_variant,p.His215Asn,ENST00000366497,;NLRP3,missense_variant,p.His215Asn,ENST00000391828,;NLRP3,missense_variant,p.His215Asn,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	1389	163	207	SUCCESS
PRDM16	63976	.	GRCh37	1	3334551	3334551	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	243	17	287	1	ENST00000270722.5:c.2851T>A	p.Tyr951Asn	p.Y951N	ENST00000270722		951	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS41236.2	2851	MUTECT|MUSE	.	AGCGATACACG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000270722	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.Tyr950Asn,ENST00000441472,;PRDM16,missense_variant,p.Tyr951Asn,ENST00000514189,;PRDM16,missense_variant,p.Tyr759Asn,ENST00000509860,;PRDM16,missense_variant,p.Tyr951Asn,ENST00000270722,;PRDM16,missense_variant,p.Tyr950Asn,ENST00000442529,;PRDM16,missense_variant,p.Tyr952Asn,ENST00000511072,;PRDM16,missense_variant,p.Tyr951Asn,ENST00000378398,;PRDM16,missense_variant,p.Tyr951Asn,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	2900	288	260	SUCCESS
PHC2	1912	.	GRCh37	1	33832725	33832725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	60	0	ENST00000257118.5:c.968T>C	p.Ile323Thr	p.I323T	ENST00000257118	NM_198040.2	323	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS378.1	968	MUTECT|MUSE	.	GTGCAATGAGG	NONE	.	.	hmmpanther:PTHR12247:SF71,hmmpanther:PTHR12247	.	.	ENSP00000257118	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000257118	Transcript	.	.	ENSG00000134686	3183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	deleterious(0)	.	PHC2_HUMAN	PHC2	HGNC	.	.	UPI0000074391	SNV	PHC2,missense_variant,p.Ile294Thr,ENST00000431992,;PHC2,missense_variant,p.Ile323Thr,ENST00000419414,;PHC2,missense_variant,p.Ile323Thr,ENST00000257118,;PHC2,5_prime_UTR_variant,,ENST00000373416,;RP11-415J8.5,downstream_gene_variant,,ENST00000432703,;PHC2,downstream_gene_variant,,ENST00000468406,;	1022	60	69	SUCCESS
MYCL	4610	.	GRCh37	1	40366463	40366463	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	293	79	214	0	ENST00000397332.2:c.586+148C>A		p.*196*	ENST00000397332	NM_001033082.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53300.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGGTTGG	NONE	.	.	.	.	.	ENSP00000380494	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397332	Transcript	.	.	ENSG00000116990	7555	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYCL	HGNC	Q86YL9_HUMAN,E9PQS5_HUMAN	.	UPI000047097E	SNV	MYCL,3_prime_UTR_variant,,ENST00000372815,;MYCL,3_prime_UTR_variant,,ENST00000429311,;MYCL,intron_variant,,ENST00000372816,;MYCL,intron_variant,,ENST00000397332,;MYCL,downstream_gene_variant,,ENST00000450953,;RP1-118J21.5,downstream_gene_variant,,ENST00000418255,;	.	214	373	SUCCESS
FOXE3	2301	.	GRCh37	1	47882609	47882609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	19	0	ENST00000335071.2:c.622C>A	p.Pro208Thr	p.P208T	ENST00000335071	NM_012186.2	208	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS550.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGACCGGGC	NONE	.	.	hmmpanther:PTHR11829:SF120,hmmpanther:PTHR11829,Low_complexity_(Seg):seg	.	.	ENSP00000334472	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335071	Transcript	.	.	ENSG00000186790	3808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.66)	.	FOXE3_HUMAN	FOXE3	HGNC	.	.	UPI000012ADD3	SNV	FOXE3,missense_variant,p.Pro208Thr,ENST00000335071,;	866	19	23	SUCCESS
USP24	23358	.	GRCh37	1	55624658	55624658	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374277857	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	79	226	0	ENST00000294383.6:c.1120C>T	p.Arg374Cys	p.R374C	ENST00000294383	NM_015306.2	374	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS44154.2	1120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGCATGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349	.	A:0.0002	ENSP00000294383	.	10/68	.	.	.	.	.	.	.	.	rs374277857,COSM2194575,COSM2194574	10/68	PASS	ENST00000294383	Transcript	.	.	ENSG00000162402	12623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.781)	.	tolerated(0.16)	0,1,1	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	SNV	USP24,missense_variant,p.Arg262Cys,ENST00000407756,;USP24,missense_variant,p.Arg374Cys,ENST00000294383,;	1120	226	227	SUCCESS
NPHP4	261734	.	GRCh37	1	6029260	6029260	+	synonymous_variant	Silent	SNP	G	G	A	rs771576802	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	53	108	0	ENST00000378156.4:c.339C>T	p.Val113=	p.V113=	ENST00000378156	NM_015102.3	113	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44052.1	339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGACCAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	.	.	ENSP00000367398	.	4/30	.	.	.	.	.	.	.	.	rs771576802	4/30	PASS	ENST00000378156	Transcript	.	.	ENSG00000131697	19104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,synonymous_variant,p.%3D,ENST00000378156,;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,synonymous_variant,p.%3D,ENST00000378169,;NPHP4,synonymous_variant,p.%3D,ENST00000489180,;	605	108	136	SUCCESS
INADL	0	.	GRCh37	1	62550246	62550246	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	9	123	0	ENST00000371158.2:c.4303G>A	p.Glu1435Lys	p.E1435K	ENST00000371158	NM_176877.2	1435	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS617.2	4303	MUTECT|MUSE	.	GACAGGAAATG	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000360200	.	33/43	.	.	.	.	.	.	.	.	.	33/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Glu1435Lys,ENST00000316485,;INADL,missense_variant,p.Glu1435Lys,ENST00000371158,;INADL,missense_variant,p.Glu108Lys,ENST00000545929,;INADL,missense_variant,p.Glu219Lys,ENST00000543708,;INADL,missense_variant,p.Glu894Lys,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	4417	123	138	SUCCESS
EFCAB7	84455	.	GRCh37	1	64021164	64021165	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TA	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	219	81	205	0	ENST00000371088.4:c.1194_1195dup	p.Phe399TyrfsTer17	p.F399Yfs*17	ENST00000371088	NM_032437.2	398	tta/tTAta	0	.	.	.	.	.	TA	L/LX	protein_coding	YES	CCDS30737.1	1192-1193	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAATTATTC	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF138	.	.	ENSP00000360129	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000371088	Transcript	.	.	ENSG00000203965	29379	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFCB7_HUMAN	EFCAB7	HGNC	.	.	UPI000006EAB2	insertion	EFCAB7,frameshift_variant,p.Phe399TyrfsTer17,ENST00000371088,;EFCAB7,non_coding_transcript_exon_variant,,ENST00000461039,;ITGB3BP,intron_variant,,ENST00000478138,;EFCAB7,intron_variant,,ENST00000460678,;EFCAB7,downstream_gene_variant,,ENST00000496956,;	1438-1439	205	300	SUCCESS
MIER1	57708	.	GRCh37	1	67450363	67450363	+	frameshift_variant	Frame_Shift_Ins	INS	A	A	CAGAT	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	73	183	0	ENST00000355356.3:c.1319delinsCAGAT	p.Asp440AlafsTer6	p.D440Afs*6	ENST00000355356	NM_001077701.2	440	gAt/gCAGATt	0	.	.	.	.	.	CAGAT	D/ADX	protein_coding	YES	CCDS53326.1	1478	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCAGATATGG	NONE	.	.	hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24	.	.	ENSP00000383820	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	substitution	MIER1,frameshift_variant,p.Asp440AlafsTer6,ENST00000355356,;MIER1,frameshift_variant,p.Asp493AlafsTer6,ENST00000401041,;MIER1,frameshift_variant,p.Asp457AlafsTer6,ENST00000357692,;MIER1,intron_variant,,ENST00000355977,;MIER1,intron_variant,,ENST00000401042,;MIER1,intron_variant,,ENST00000371018,;MIER1,intron_variant,,ENST00000371014,;MIER1,intron_variant,,ENST00000371016,;	1548	183	176	SUCCESS
CAMTA1	23261	.	GRCh37	1	7796520	7796520	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	6	152	0	ENST00000303635.7:c.3183G>C	p.Lys1061Asn	p.K1061N	ENST00000303635	NM_015215.2	1061	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS30576.1	3183	MUTECT|MUSE	.	TCAAAGACTTT	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000306522	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	tolerated(0.09)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Lys1061Asn,ENST00000303635,;CAMTA1,missense_variant,p.Lys18Asn,ENST00000495233,;CAMTA1,missense_variant,p.Lys1061Asn,ENST00000439411,;	3390	152	152	SUCCESS
CST9L	128821	.	GRCh37	20	23549024	23549024	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	38	79	0	ENST00000376979.3:c.64C>A	p.Gln22Lys	p.Q22K	ENST00000376979	NM_080610.2	22	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS13157.1	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTGGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR11413:SF22,hmmpanther:PTHR11413	.	.	ENSP00000366178	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	tolerated(0.17)	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,missense_variant,p.Gln22Lys,ENST00000376979,;	363	79	97	SUCCESS
EPPIN	57119	.	GRCh37	20	44171410	44171410	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	60	186	0	ENST00000354280.4:c.320A>G	p.Tyr107Cys	p.Y107C	ENST00000354280	NM_020398.3	107	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS56195.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATAGACA	NONE	.	.	PROSITE_profiles:PS50279,hmmpanther:PTHR10083:SF165,hmmpanther:PTHR10083,PROSITE_patterns:PS00280,Pfam_domain:PF00014,Gene3D:4.10.410.10,SMART_domains:SM00131,Superfamily_domains:SSF57362,Prints_domain:PR00759	.	.	ENSP00000452085	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000555685	Transcript	.	.	ENSG00000101448	15932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.03)	.	EPPI_HUMAN	EPPIN	HGNC	.	.	UPI0000E5A337	SNV	EPPIN,missense_variant,p.Tyr91Cys,ENST00000336443,;EPPIN-WFDC6,missense_variant,p.Tyr107Cys,ENST00000504988,;EPPIN,missense_variant,p.Tyr107Cys,ENST00000354280,;EPPIN,missense_variant,p.Tyr107Cys,ENST00000555685,;EPPIN,intron_variant,,ENST00000409554,;WFDC6,upstream_gene_variant,,ENST00000600168,;WFDC6,upstream_gene_variant,,ENST00000372670,;WFDC6,upstream_gene_variant,,ENST00000372665,;EPPIN,non_coding_transcript_exon_variant,,ENST00000496898,;HSPD1P21,upstream_gene_variant,,ENST00000436541,;	364	186	190	SUCCESS
ZNF831	128611	.	GRCh37	20	57829044	57829044	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	107	0	ENST00000371030.2:c.4280T>C	p.Leu1427Pro	p.L1427P	ENST00000371030	NM_178457.2	1427	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42894.1	4280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGGCAG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious(0.01)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Leu1427Pro,ENST00000371030,;	4280	107	73	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19726182	19726182	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	266	21	304	0	ENST00000284885.3:c.881-2A>T		p.X294_splice	ENST00000284885	NM_002772.2	294		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13571.1	.	MUTECT|MUSE	.	GAAGCTACAAA	NONE	.	.	.	.	.	ENSP00000284885	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	HIGH	8/24	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,splice_acceptor_variant,,ENST00000284885,;	.	304	287	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43802299	43802299	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	88	0	ENST00000291532.3:c.827C>T	p.Ser276Phe	p.S276F	ENST00000291532	NM_032404.2	276	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS13686.1	827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGAAACT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000291532	.	9/13	.	.	.	.	.	.	.	.	COSM3912205,COSM3912207,COSM3912206	9/13	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.601)	.	deleterious(0.03)	1,1,1	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,missense_variant,p.Ser276Phe,ENST00000433957,;TMPRSS3,missense_variant,p.Ser274Phe,ENST00000398405,;TMPRSS3,missense_variant,p.Ser360Phe,ENST00000380399,;TMPRSS3,missense_variant,p.Ser276Phe,ENST00000291532,;TMPRSS3,missense_variant,p.Ser276Phe,ENST00000398397,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000478680,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000476848,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;	1783	88	84	SUCCESS
PDXK	8566	.	GRCh37	21	45152250	45152250	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	67	0	ENST00000291565.4:c.88-1700T>C		p.*30*	ENST00000291565	NM_003681.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13699.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACATGAAGT	NONE	.	.	.	.	.	ENSP00000291565	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291565	Transcript	.	.	ENSG00000160209	8819	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDXK_HUMAN	PDXK	HGNC	G1UI32_HUMAN	.	UPI0000131524	SNV	PDXK,5_prime_UTR_variant,,ENST00000327574,;PDXK,intron_variant,,ENST00000398081,;PDXK,intron_variant,,ENST00000468090,;PDXK,intron_variant,,ENST00000291565,;PDXK,non_coding_transcript_exon_variant,,ENST00000476313,;PDXK,intron_variant,,ENST00000498040,;PDXK,intron_variant,,ENST00000398085,;PDXK,intron_variant,,ENST00000470029,;PDXK,intron_variant,,ENST00000472777,;PDXK,upstream_gene_variant,,ENST00000481512,;PDXK,downstream_gene_variant,,ENST00000438837,;	.	67	80	SUCCESS
CCT8L2	150160	.	GRCh37	22	17073436	17073439	+	frameshift_variant,start_lost	Frame_Shift_Del	DEL	TCCA	TCCA	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	TCCA	TCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	68	0	ENST00000359963.3:c.2_5del	p.Met1_?2	p.M1_?2	ENST00000359963	NM_014406.4	1	aTGGAc/ac	0	.	.	.	.	.	-	MD/X	protein_coding	YES	CCDS13738.1	2-5	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCTGTCCATGGCC	NONE	.	.	hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353	.	.	ENSP00000353048	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359963	Transcript	.	.	ENSG00000198445	15553	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TCPQM_HUMAN	CCT8L2	HGNC	.	.	UPI000006CF87	deletion	CCT8L2,frameshift_variant,p.Met1_?2,ENST00000359963,;FABP5P11,downstream_gene_variant,,ENST00000430910,;	262-265	68	60	SUCCESS
C22orf42	150297	.	GRCh37	22	32546378	32546378	+	synonymous_variant	Silent	SNP	A	A	G	rs1300525420	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	263	153	409	1	ENST00000382097.3:c.582T>C	p.Leu194=	p.L194=	ENST00000382097	NM_001010859.1	194	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33639.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAAGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15880:SF1,hmmpanther:PTHR15880	.	.	ENSP00000371529	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000382097	Transcript	.	.	ENSG00000205856	27160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV042_HUMAN	C22orf42	HGNC	.	.	UPI00003765B0	SNV	C22orf42,synonymous_variant,p.%3D,ENST00000382097,;C22orf42,upstream_gene_variant,,ENST00000490640,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;	655	410	416	SUCCESS
L3MBTL2	83746	.	GRCh37	22	41616753	41616753	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	49	0	ENST00000216237.5:c.734T>A	p.Leu245His	p.L245H	ENST00000216237	NM_031488.4	245	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS14011.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTTCGGT	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF64,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000216237	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000216237	Transcript	.	.	ENSG00000100395	18594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LMBL2_HUMAN	L3MBTL2	HGNC	.	.	UPI000012E77E	SNV	L3MBTL2,missense_variant,p.Leu245His,ENST00000216237,;L3MBTL2,missense_variant,p.Leu193His,ENST00000449635,;RP4-756G23.5,upstream_gene_variant,,ENST00000441316,;RP4-756G23.5,upstream_gene_variant,,ENST00000451176,;L3MBTL2,downstream_gene_variant,,ENST00000489136,;L3MBTL2,missense_variant,p.Phe198Ile,ENST00000450939,;L3MBTL2,missense_variant,p.Leu245His,ENST00000452106,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000481902,;	892	49	51	SUCCESS
SULT4A1	25830	.	GRCh37	22	44237809	44237809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	32	0	ENST00000330884.4:c.173C>T	p.Thr58Ile	p.T58I	ENST00000330884	NM_014351.3	58	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS14051.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGTGCCT	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF5	.	.	ENSP00000332565	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000330884	Transcript	.	.	ENSG00000130540	14903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0.02)	.	ST4A1_HUMAN	SULT4A1	HGNC	B7Z320_HUMAN	.	UPI0000135477	SNV	SULT4A1,missense_variant,p.Thr58Ile,ENST00000249130,;SULT4A1,missense_variant,p.Thr58Ile,ENST00000330884,;SULT4A1,intron_variant,,ENST00000540422,;SULT4A1,missense_variant,p.Thr58Ile,ENST00000422525,;SULT4A1,intron_variant,,ENST00000432404,;SULT4A1,upstream_gene_variant,,ENST00000475131,;	294	32	42	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131801059	131801059	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	77	0	ENST00000326016.5:c.1502T>A	p.Ile501Asn	p.I501N	ENST00000326016	NM_015320.3	501	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS2165.1	1502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCATCTACT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826,PROSITE_profiles:PS50003	.	.	ENSP00000316845	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Ile501Asn,ENST00000326016,;ARHGEF4,missense_variant,p.Ile430Asn,ENST00000355771,;ARHGEF4,missense_variant,p.Ile501Asn,ENST00000392953,;ARHGEF4,missense_variant,p.Ile118Asn,ENST00000532720,;ARHGEF4,missense_variant,p.Ile501Asn,ENST00000525839,;ARHGEF4,missense_variant,p.Ile441Asn,ENST00000409303,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;FAM168B,downstream_gene_variant,,ENST00000409185,;ARHGEF4,downstream_gene_variant,,ENST00000528247,;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000527365,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000525092,;	2021	77	86	SUCCESS
TPO	7173	.	GRCh37	2	1499810	1499810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	58	0	ENST00000329066.4:c.2056C>A	p.Leu686Met	p.L686M	ENST00000329066	NM_001206744.1	686	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS1643.1	2056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCTGGAG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000318820	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Leu686Met,ENST00000329066,;TPO,missense_variant,p.Leu686Met,ENST00000337415,;TPO,missense_variant,p.Leu513Met,ENST00000382198,;TPO,missense_variant,p.Leu629Met,ENST00000382201,;TPO,missense_variant,p.Leu161Met,ENST00000446278,;TPO,missense_variant,p.Leu513Met,ENST00000349624,;TPO,missense_variant,p.Leu686Met,ENST00000346956,;TPO,missense_variant,p.Leu160Met,ENST00000469607,;TPO,missense_variant,p.Leu615Met,ENST00000422464,;TPO,missense_variant,p.Leu686Met,ENST00000345913,;TPO,intron_variant,,ENST00000462973,;TPO,intron_variant,,ENST00000497517,;	2147	58	63	SUCCESS
RBMS1	5937	.	GRCh37	2	161138808	161138808	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	82	0	ENST00000348849.3:c.901-933A>T		p.*301*	ENST00000348849	NM_002897.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2213.1	.	MUTECT|MUSE	.	TTTCCTTTGCC	NONE	.	.	.	.	.	ENSP00000294904	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348849	Transcript	.	.	ENSG00000153250	9907	.	.	MODIFIER	9/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBMS1_HUMAN	RBMS1	HGNC	Q9UEK5_HUMAN,E7EPF2_HUMAN	.	UPI00000713D4	SNV	RBMS1,missense_variant,p.Lys300Met,ENST00000392753,;RBMS1,intron_variant,,ENST00000409972,;RBMS1,intron_variant,,ENST00000348849,;RBMS1,intron_variant,,ENST00000409289,;RBMS1,intron_variant,,ENST00000409075,;RBMS1,non_coding_transcript_exon_variant,,ENST00000474820,;RBMS1,non_coding_transcript_exon_variant,,ENST00000490637,;RBMS1,non_coding_transcript_exon_variant,,ENST00000477965,;RBMS1,upstream_gene_variant,,ENST00000474147,;RBMS1,upstream_gene_variant,,ENST00000464200,;RBMS1,downstream_gene_variant,,ENST00000491781,;	.	82	120	SUCCESS
HOXD4	3233	.	GRCh37	2	177016412	177016412	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752396313	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	66	163	0	ENST00000306324.3:c.51C>G	p.Phe17Leu	p.F17L	ENST00000306324	NM_014621.2	17	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS2269.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCCCTCC	NONE	.	.	hmmpanther:PTHR24326:SF118,hmmpanther:PTHR24326	.	.	ENSP00000302548	.	1/2	.	.	.	.	.	.	.	.	rs752396313,COSM476251,COSM4086958	1/2	PASS	ENST00000306324	Transcript	.	.	ENSG00000170166	5138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.615)	.	deleterious(0)	0,1,1	HXD4_HUMAN	HOXD4	HGNC	.	.	UPI000012CF87	SNV	HOXD4,missense_variant,p.Phe17Leu,ENST00000306324,;HOXD3,5_prime_UTR_variant,,ENST00000468418,;HOXD3,intron_variant,,ENST00000432796,;MIR10B,downstream_gene_variant,,ENST00000385011,;	463	163	165	SUCCESS
DNAH7	56171	.	GRCh37	2	196765131	196765131	+	synonymous_variant	Silent	SNP	G	G	T	rs376085913	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	65	173	0	ENST00000312428.6:c.4423C>A	p.Arg1475=	p.R1475=	ENST00000312428	NM_018897.2	1475	Cga/Aga	0	A:0	.	.	.	.	T	R	protein_coding	YES	CCDS42794.1	4423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGAGCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000311273	.	28/65	.	.	.	.	.	.	.	.	rs376085913	28/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;DNAH7,non_coding_transcript_exon_variant,,ENST00000475293,;	4524	173	175	SUCCESS
KCTD18	130535	.	GRCh37	2	201357908	201357908	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146790839	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	73	0	ENST00000359878.3:c.751C>A	p.Pro251Thr	p.P251T	ENST00000359878	NM_152387.2	251	Cca/Aca	0	A:0	.	.	.	.	T	P/T	protein_coding	YES	CCDS2330.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGGAGCCA	NONE	byCluster	.	hmmpanther:PTHR14499:SF4,hmmpanther:PTHR14499	.	A:0.0001	ENSP00000352941	.	6/7	.	.	.	.	.	.	.	.	rs146790839,COSM1752238	6/7	PASS	ENST00000359878	Transcript	.	.	ENSG00000155729	26446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.856)	.	deleterious(0)	0,1	KCD18_HUMAN	KCTD18	HGNC	.	.	UPI0000209355	SNV	KCTD18,missense_variant,p.Pro251Thr,ENST00000359878,;KCTD18,missense_variant,p.Pro251Thr,ENST00000409157,;KCTD18,downstream_gene_variant,,ENST00000468413,;KCTD18,downstream_gene_variant,,ENST00000478816,;	1262	73	70	SUCCESS
BMPR2	659	.	GRCh37	2	203383670	203383670	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	9	127	0	ENST00000374580.4:c.747G>A	p.Val249=	p.V249=	ENST00000374580	NM_001204.6	249	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33361.1	747	MUTECT|MUSE	.	AGAGTGCCTTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF63,hmmpanther:PTHR23255,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000363708	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000374580	Transcript	.	.	ENSG00000204217	1078	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BMPR2_HUMAN	BMPR2	HGNC	.	.	UPI0000126A3B	SNV	BMPR2,synonymous_variant,p.%3D,ENST00000374574,;BMPR2,synonymous_variant,p.%3D,ENST00000374580,;AC073410.1,upstream_gene_variant,,ENST00000435125,;	1286	127	130	SUCCESS
MDH1B	130752	.	GRCh37	2	207622077	207622077	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	51	0	ENST00000374412.3:c.154T>A	p.Cys52Ser	p.C52S	ENST00000374412	NM_001039845.1	52	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS33365.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACACACAT	NONE	.	.	hmmpanther:PTHR23382:SF1,hmmpanther:PTHR23382	.	.	ENSP00000363533	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000374412	Transcript	.	.	ENSG00000138400	17836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MDH1B_HUMAN	MDH1B	HGNC	C9JER5_HUMAN,B4DY40_HUMAN	.	UPI00001D7E19	SNV	MDH1B,missense_variant,p.Cys52Ser,ENST00000454776,;MDH1B,missense_variant,p.Cys52Ser,ENST00000374412,;MDH1B,missense_variant,p.Cys52Ser,ENST00000392214,;MDH1B,5_prime_UTR_variant,,ENST00000449792,;MDH1B,missense_variant,p.Cys52Ser,ENST00000432911,;MDH1B,missense_variant,p.Cys52Ser,ENST00000436472,;MDH1B,non_coding_transcript_exon_variant,,ENST00000471988,;	430	51	40	SUCCESS
APOB	338	.	GRCh37	2	21228569	21228569	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	88	0	ENST00000233242.1:c.11171A>G	p.Lys3724Arg	p.K3724R	ENST00000233242	NM_000384.2	3724	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS1703.1	11171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTTTTACA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Lys3724Arg,ENST00000233242,;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	11299	88	76	SUCCESS
PRKAG3	53632	.	GRCh37	2	219689003	219689003	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	6	127	0	ENST00000233944.3:c.1295T>C	p.Leu432Pro	p.L432P	ENST00000233944		432	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2424.1	1295	MUTECT|MUSE	.	AGGAAAGGACT	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR13780:SF31,hmmpanther:PTHR13780,Pfam_domain:PF00571,Gene3D:3.10.580.10,SMART_domains:SM00116,Superfamily_domains:SSF54631	.	.	ENSP00000436068	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000529249	Transcript	.	.	ENSG00000115592	9387	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0.02)	.	AAKG3_HUMAN	PRKAG3	HGNC	B4DT70_HUMAN	.	UPI0000043D98	SNV	PRKAG3,missense_variant,p.Leu248Pro,ENST00000545803,;PRKAG3,missense_variant,p.Leu407Pro,ENST00000439262,;PRKAG3,missense_variant,p.Leu432Pro,ENST00000529249,;PRKAG3,downstream_gene_variant,,ENST00000392098,;PRKAG3,missense_variant,p.Leu432Pro,ENST00000233944,;PRKAG3,downstream_gene_variant,,ENST00000490971,;PRKAG3,downstream_gene_variant,,ENST00000470307,;	1611	127	124	SUCCESS
KCNJ13	3769	.	GRCh37	2	233633278	233633278	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	58	170	0	ENST00000233826.3:c.706T>A	p.Phe236Ile	p.F236I	ENST00000233826	NM_002242.4	236	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS2498.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAATGGAC	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF3,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000233826	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000233826	Transcript	.	.	ENSG00000115474	6259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	deleterious(0.02)	.	IRK13_HUMAN	KCNJ13	HGNC	C9JWD6_HUMAN	.	UPI000012D8AF	SNV	KCNJ13,missense_variant,p.Phe236Ile,ENST00000410029,;KCNJ13,missense_variant,p.Phe156Ile,ENST00000438786,;KCNJ13,missense_variant,p.Phe236Ile,ENST00000233826,;KCNJ13,3_prime_UTR_variant,,ENST00000409779,;GIGYF2,intron_variant,,ENST00000423659,;GIGYF2,intron_variant,,ENST00000373563,;GIGYF2,intron_variant,,ENST00000409480,;GIGYF2,intron_variant,,ENST00000409196,;GIGYF2,intron_variant,,ENST00000445650,;GIGYF2,intron_variant,,ENST00000455139,;GIGYF2,intron_variant,,ENST00000436349,;GIGYF2,intron_variant,,ENST00000440945,;GIGYF2,intron_variant,,ENST00000409451,;KCNJ13,intron_variant,,ENST00000444142,;GIGYF2,intron_variant,,ENST00000409547,;GIGYF2,intron_variant,,ENST00000452341,;GIGYF2,intron_variant,,ENST00000421778,;GIGYF2,intron_variant,,ENST00000373566,;GIGYF2,intron_variant,,ENST00000424414,;AC064852.4,upstream_gene_variant,,ENST00000427571,;GIGYF2,intron_variant,,ENST00000463554,;GIGYF2,downstream_gene_variant,,ENST00000473170,;GIGYF2,downstream_gene_variant,,ENST00000475530,;GIGYF2,intron_variant,,ENST00000424038,;	846	170	183	SUCCESS
GIGYF2	26058	.	GRCh37	2	233674449	233674449	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	116	243	0	ENST00000373563.4:c.1826G>T	p.Arg609Leu	p.R609L	ENST00000373563	NM_001103146.1	609	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS46542.1	1889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACGACTGA	NONE	.	.	hmmpanther:PTHR14445:SF38,hmmpanther:PTHR14445	.	.	ENSP00000387170	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000409451	Transcript	.	.	ENSG00000204120	11960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	.	.	PERQ2_HUMAN	GIGYF2	HGNC	C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN	.	UPI00003FEC8F	SNV	GIGYF2,missense_variant,p.Arg552Leu,ENST00000423659,;GIGYF2,missense_variant,p.Arg609Leu,ENST00000373563,;GIGYF2,missense_variant,p.Arg609Leu,ENST00000409547,;GIGYF2,missense_variant,p.Arg440Leu,ENST00000452341,;GIGYF2,missense_variant,p.Arg631Leu,ENST00000373566,;GIGYF2,missense_variant,p.Arg631Leu,ENST00000409480,;GIGYF2,missense_variant,p.Arg603Leu,ENST00000409196,;GIGYF2,missense_variant,p.Arg630Leu,ENST00000409451,;GIGYF2,missense_variant,p.Arg603Leu,ENST00000440945,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000482952,;GIGYF2,upstream_gene_variant,,ENST00000474312,;	2115	243	275	SUCCESS
USP40	55230	.	GRCh37	2	234399852	234399852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	148	357	1	ENST00000251722.6:c.2970G>T	p.Glu990Asp	p.E990D	ENST00000251722		990	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS46547.1	3006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCTCTAT	NONE	.	.	.	.	.	ENSP00000415434	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	tolerated(0.14)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.Glu990Asp,ENST00000251722,;USP40,missense_variant,p.Glu166Asp,ENST00000430158,;USP40,missense_variant,p.Glu1002Asp,ENST00000450966,;USP40,missense_variant,p.Glu990Asp,ENST00000427112,;USP40,upstream_gene_variant,,ENST00000454354,;USP40,downstream_gene_variant,,ENST00000409945,;USP40,upstream_gene_variant,,ENST00000496298,;USP40,missense_variant,p.Glu37Asp,ENST00000450940,;USP40,non_coding_transcript_exon_variant,,ENST00000473191,;USP40,upstream_gene_variant,,ENST00000483519,;	3006	358	370	SUCCESS
HEATR5B	54497	.	GRCh37	2	37297440	37297440	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	7	125	0	ENST00000233099.5:c.860A>G	p.Lys287Arg	p.K287R	ENST00000233099	NM_019024.1	287	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33181.1	860	MUTECT|MUSE	.	CGCTCTTTAAG	NONE	.	.	hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663,Gene3D:1.25.10.10	.	.	ENSP00000233099	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.75)	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,missense_variant,p.Lys287Arg,ENST00000233099,;HEATR5B,missense_variant,p.Lys287Arg,ENST00000354531,;HEATR5B,downstream_gene_variant,,ENST00000478810,;	956	125	126	SUCCESS
ZFP36L2	678	.	GRCh37	2	43452453	43452453	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	33	0	ENST00000282388.3:c.490G>T	p.Glu164Ter	p.E164*	ENST00000282388	NM_006887.4	164	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1811.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCTCGA	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF58,Pfam_domain:PF00642,Gene3D:1m9oA00,SMART_domains:SM00356,Superfamily_domains:SSF90229	.	.	ENSP00000282388	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282388	Transcript	.	.	ENSG00000152518	1108	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TISD_HUMAN	ZFP36L2	HGNC	.	.	UPI000013DCDA	SNV	ZFP36L2,stop_gained,p.Glu164Ter,ENST00000282388,;THADA,intron_variant,,ENST00000330266,;AC010883.5,upstream_gene_variant,,ENST00000423354,;	784	33	54	SUCCESS
USP34	9736	.	GRCh37	2	61542016	61542016	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754901328	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	257	11	284	0	ENST00000398571.2:c.3376A>G	p.Ile1126Val	p.I1126V	ENST00000398571	NM_014709.3	1126	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42686.1	3376	MUTECT|MUSE	.	ATTAATATAAT	NONE	.	.	.	.	.	ENSP00000381577	.	24/80	.	.	.	.	.	.	.	.	rs754901328	24/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.21)	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,missense_variant,p.Ile1126Val,ENST00000398571,;	3453	284	269	SUCCESS
TEKT4	150483	.	GRCh37	2	95542383	95542383	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	16	0	ENST00000295201.4:c.1177C>A	p.Leu393Ile	p.L393I	ENST00000295201	NM_144705.2	393	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS2005.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCTCGAG	BUFFER|p.R391C|c.1171C>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19960:SF12,hmmpanther:PTHR19960,Pfam_domain:PF03148	.	.	ENSP00000295201	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295201	Transcript	.	.	ENSG00000163060	31012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TEKT4_HUMAN	TEKT4	HGNC	.	.	UPI00000730A8	SNV	TEKT4,missense_variant,p.Leu393Ile,ENST00000295201,;TEKT4,downstream_gene_variant,,ENST00000427593,;AC097374.2,intron_variant,,ENST00000582835,;AC097374.2,intron_variant,,ENST00000568768,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;AC097374.2,intron_variant,,ENST00000597308,;	1314	16	19	SUCCESS
CNGA3	1261	.	GRCh37	2	99012463	99012463	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778114016	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	45	182	0	ENST00000272602.2:c.830G>T	p.Arg277Leu	p.R277L	ENST00000272602		277	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS2034.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCGCCTAC	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	CM014539,rs778114016	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Arg281Leu,ENST00000409937,;CNGA3,missense_variant,p.Arg277Leu,ENST00000393504,;CNGA3,missense_variant,p.Arg259Leu,ENST00000436404,;CNGA3,missense_variant,p.Arg277Leu,ENST00000272602,;	1247	182	185	SUCCESS
C3orf17	0	.	GRCh37	3	112729968	112729968	+	synonymous_variant	Silent	SNP	T	T	C	rs763571174	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	35	105	0	ENST00000314400.5:c.837A>G	p.Lys279=	p.K279=	ENST00000314400	NM_015412.3	279	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS33824.1	837	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCTTTTTT	NONE	.	.	.	.	.	ENSP00000320251	.	6/9	.	.	.	.	.	.	.	.	rs763571174	6/9	PASS	ENST00000314400	Transcript	.	.	ENSG00000163608	24496	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC017_HUMAN	C3orf17	HGNC	C9J9E3_HUMAN,A8MVI8_HUMAN	.	UPI0000367197	SNV	C3orf17,synonymous_variant,p.%3D,ENST00000393857,;C3orf17,synonymous_variant,p.%3D,ENST00000314400,;C3orf17,synonymous_variant,p.%3D,ENST00000383675,;C3orf17,downstream_gene_variant,,ENST00000472166,;C3orf17,non_coding_transcript_exon_variant,,ENST00000472762,;C3orf17,downstream_gene_variant,,ENST00000494575,;C3orf17,synonymous_variant,p.%3D,ENST00000461381,;C3orf17,3_prime_UTR_variant,,ENST00000462295,;C3orf17,3_prime_UTR_variant,,ENST00000496206,;C3orf17,3_prime_UTR_variant,,ENST00000472637,;C3orf17,3_prime_UTR_variant,,ENST00000491121,;C3orf17,3_prime_UTR_variant,,ENST00000494164,;C3orf17,3_prime_UTR_variant,,ENST00000469169,;C3orf17,3_prime_UTR_variant,,ENST00000489848,;C3orf17,3_prime_UTR_variant,,ENST00000460410,;C3orf17,3_prime_UTR_variant,,ENST00000473284,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000464816,;C3orf17,non_coding_transcript_exon_variant,,ENST00000482229,;GTPBP8,intron_variant,,ENST00000485330,;C3orf17,intron_variant,,ENST00000469809,;C3orf17,intron_variant,,ENST00000472705,;C3orf17,downstream_gene_variant,,ENST00000496340,;C3orf17,downstream_gene_variant,,ENST00000494891,;C3orf17,downstream_gene_variant,,ENST00000470663,;C3orf17,upstream_gene_variant,,ENST00000474311,;	1029	105	125	SUCCESS
IGSF11	152404	.	GRCh37	3	118753538	118753538	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	93	0	ENST00000393775.2:c.-109G>T		p.*37*	ENST00000393775	NM_001015887.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46891.1	.	MUTECT|MUSE	.	ACACCCAGCGC	NONE	.	.	.	.	.	ENSP00000377370	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000393775	Transcript	.	.	ENSG00000144847	16669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IGS11_HUMAN	IGSF11	HGNC	C9JAD3_HUMAN,C9IZX3_HUMAN	.	UPI000013D9B3	SNV	IGSF11,5_prime_UTR_variant,,ENST00000489689,;IGSF11,5_prime_UTR_variant,,ENST00000393775,;IGSF11,5_prime_UTR_variant,,ENST00000480431,;IGSF11,5_prime_UTR_variant,,ENST00000491903,;IGSF11,intron_variant,,ENST00000425327,;IGSF11,intron_variant,,ENST00000354673,;IGSF11,intron_variant,,ENST00000441144,;IGSF11,intron_variant,,ENST00000494802,;	198	93	95	SUCCESS
TRPC1	7220	.	GRCh37	3	142522995	142522995	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	53	116	0	ENST00000476941.1:c.1934T>A	p.Leu645His	p.L645H	ENST00000476941	NM_001251845.1	645	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS58856.1	1934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTTCATA	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF3,TIGRFAM_domain:TIGR00870,Prints_domain:PR01097	.	.	ENSP00000419313	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000476941	Transcript	.	.	ENSG00000144935	12333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRPC1_HUMAN	TRPC1	HGNC	.	.	UPI00001374A4	SNV	TRPC1,missense_variant,p.Leu611His,ENST00000273482,;TRPC1,missense_variant,p.Leu645His,ENST00000476941,;RNU7-47P,downstream_gene_variant,,ENST00000515978,;	2420	116	147	SUCCESS
IL12A	3592	.	GRCh37	3	159713248	159713248	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	11	115	0	ENST00000305579.2:c.664T>A	p.Phe222Ile	p.F222I	ENST00000305579	NM_000882.3	222	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS3187.1	664	MUTECT|MUSE|VARSCANS	.	CGGATTTTTAT	NONE	.	.	hmmpanther:PTHR10523,Pfam_domain:PF03039,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000303231	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000305579	Transcript	.	.	ENSG00000168811	5969	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.602)	.	tolerated(0.36)	.	IL12A_HUMAN	IL12A	HGNC	Q7LDP2_HUMAN,O60595_HUMAN	.	UPI0000073D3D	SNV	IL12A,missense_variant,p.Phe208Ile,ENST00000466512,;IL12A,missense_variant,p.Phe184Ile,ENST00000480787,;IL12A,missense_variant,p.Phe222Ile,ENST00000305579,;IL12A-AS1,intron_variant,,ENST00000497452,;IL12A-AS1,downstream_gene_variant,,ENST00000462431,;IL12A,non_coding_transcript_exon_variant,,ENST00000468862,;IL12A,non_coding_transcript_exon_variant,,ENST00000496308,;	971	115	118	SUCCESS
FGF12	2257	.	GRCh37	3	192078328	192078328	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	114	0	ENST00000454309.2:c.200-1G>A		p.X67_splice	ENST00000454309	NM_021032.4	67		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTCTGCAA	NONE	.	.	.	.	.	ENSP00000413496	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454309	Transcript	.	.	ENSG00000114279	3668	.	.	HIGH	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF12_HUMAN	FGF12	HGNC	C9JUK8_HUMAN	.	UPI0000003FDD	SNV	FGF12,splice_acceptor_variant,,ENST00000418610,;FGF12,splice_acceptor_variant,,ENST00000445105,;FGF12,splice_acceptor_variant,,ENST00000450716,;FGF12,splice_acceptor_variant,,ENST00000264730,;FGF12,splice_acceptor_variant,,ENST00000448795,;FGF12,splice_acceptor_variant,,ENST00000454309,;FGF12,intron_variant,,ENST00000430714,;	.	114	114	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913403	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	42	134	0	ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	110	SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCTGGTG	SITE|p.S37C|c.110C>G|157,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S37A|c.109T>G|67,CODON|p.S37P|c.109T>C|30,CODON|p.S37F|c.110C>T|201,CODON|p.S37Y|c.110C>A|37,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41A|c.121A>G|828,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5666,COSM5679,COSM5662	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	probably_damaging(0.986)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	390	134	136	SUCCESS
CCR5	1234	.	GRCh37	3	46414720	46414720	+	synonymous_variant	Silent	SNP	T	T	C	rs558483026	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	48	110	0	ENST00000292303.4:c.327T>C	p.Phe109=	p.F109=	ENST00000292303	NM_001100168.1	109	ttT/ttC	0	.	G:0.0008	.	G:0	.	C	F	protein_coding	YES	CCDS2739.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTATAGG	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF45,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00657	G:0	.	ENSP00000343985	G:0	3/3	.	.	.	.	.	.	.	.	rs558483026	3/3	PASS	ENST00000343801	Transcript	.	G:0.0002	ENSG00000160791	1606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CCR5_HUMAN	CCR5	HGNC	Q9UBT9_HUMAN,Q9P1T4_HUMAN,Q5KSY4_HUMAN,Q5EKN0_HUMAN,Q38L21_HUMAN,J7HJP8_HUMAN,E7BJ57_HUMAN,B8LFP0_HUMAN,B8LFN8_HUMAN,A1A490_HUMAN	.	UPI000000D955	SNV	CCR5,synonymous_variant,p.%3D,ENST00000292303,;CCR5,synonymous_variant,p.%3D,ENST00000343801,;CCR5,synonymous_variant,p.%3D,ENST00000445772,;RP11-24F11.2,intron_variant,,ENST00000451485,;	684	110	119	SUCCESS
ITPR1	3708	.	GRCh37	3	4853115	4853115	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	34	61	0	ENST00000354582.6:c.7394A>G	p.Asp2465Gly	p.D2465G	ENST00000354582		2465	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54551.1	7394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGATAGGC	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF00520	.	.	ENSP00000306253	.	55/61	.	.	.	.	.	.	.	.	.	55/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	deleterious(0.01)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Asp2432Gly,ENST00000357086,;ITPR1,missense_variant,p.Asp2465Gly,ENST00000302640,;ITPR1,missense_variant,p.Asp2465Gly,ENST00000443694,;ITPR1,missense_variant,p.Asp2465Gly,ENST00000354582,;ITPR1,missense_variant,p.Asp2432Gly,ENST00000423119,;ITPR1,missense_variant,p.Asp2417Gly,ENST00000456211,;ITPR1,missense_variant,p.Asp443Gly,ENST00000544951,;AC018816.3,downstream_gene_variant,,ENST00000441894,;AC018816.3,downstream_gene_variant,,ENST00000449914,;ITPR1,non_coding_transcript_exon_variant,,ENST00000463980,;ITPR1,non_coding_transcript_exon_variant,,ENST00000493491,;ITPR1,non_coding_transcript_exon_variant,,ENST00000490572,;AC018816.3,downstream_gene_variant,,ENST00000474544,;AC018816.3,downstream_gene_variant,,ENST00000489771,;AC018816.3,downstream_gene_variant,,ENST00000465436,;AC018816.3,downstream_gene_variant,,ENST00000496600,;AC018816.3,downstream_gene_variant,,ENST00000478724,;ITPR1,upstream_gene_variant,,ENST00000478515,;ITPR1,upstream_gene_variant,,ENST00000472205,;ITPR1,downstream_gene_variant,,ENST00000467545,;	7744	61	65	SUCCESS
CADPS	8618	.	GRCh37	3	62459851	62459851	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	37	0	ENST00000383710.4:c.3474A>T	p.Gln1158His	p.Q1158H	ENST00000383710	NM_003716.3	1158	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS46858.1	3474	RADIA|SOMATICSNIPER|VARSCANS	.	ACCTCTTGGCC	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.216)	.	deleterious(0.05)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Gln1079His,ENST00000357948,;CADPS,missense_variant,p.Gln1158His,ENST00000383710,;CADPS,missense_variant,p.Gln1119His,ENST00000283269,;CADPS,missense_variant,p.Gln145His,ENST00000473635,;CADPS,missense_variant,p.Gln70His,ENST00000466621,;CADPS,upstream_gene_variant,,ENST00000462768,;CADPS,non_coding_transcript_exon_variant,,ENST00000478408,;CADPS,non_coding_transcript_exon_variant,,ENST00000478570,;CADPS,downstream_gene_variant,,ENST00000463002,;	3824	37	49	SUCCESS
CADPS	8618	.	GRCh37	3	62459893	62459893	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	60	0	ENST00000383710.4:c.3432C>T	p.Ala1144=	p.A1144=	ENST00000383710	NM_003716.3	1144	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46858.1	3432	MUTECT|MUSE	.	GCTTTGGCATC	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,synonymous_variant,p.%3D,ENST00000357948,;CADPS,synonymous_variant,p.%3D,ENST00000383710,;CADPS,synonymous_variant,p.%3D,ENST00000283269,;CADPS,synonymous_variant,p.%3D,ENST00000473635,;CADPS,synonymous_variant,p.%3D,ENST00000466621,;CADPS,upstream_gene_variant,,ENST00000462768,;CADPS,non_coding_transcript_exon_variant,,ENST00000478408,;CADPS,non_coding_transcript_exon_variant,,ENST00000478570,;CADPS,downstream_gene_variant,,ENST00000463002,;	3782	60	84	SUCCESS
PITX2	5308	.	GRCh37	4	111539720	111539720	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	114	0	ENST00000354925.2:c.515C>A	p.Pro172Gln	p.P172Q	ENST00000354925	NM_001204397.1	172	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS3694.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTGGGTAC	NONE	.	.	hmmpanther:PTHR24329:SF287,hmmpanther:PTHR24329,PIRSF_domain:PIRSF000563	.	.	ENSP00000304169	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000306732	Transcript	1	.	ENSG00000164093	9005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0.01)	.	PITX2_HUMAN	PITX2	HGNC	.	.	UPI000002B122	SNV	PITX2,missense_variant,p.Pro172Gln,ENST00000394598,;PITX2,missense_variant,p.Pro172Gln,ENST00000354925,;PITX2,missense_variant,p.Pro126Gln,ENST00000355080,;PITX2,missense_variant,p.Pro172Gln,ENST00000511837,;PITX2,missense_variant,p.Pro179Gln,ENST00000306732,;PITX2,synonymous_variant,p.%3D,ENST00000394595,;PITX2,downstream_gene_variant,,ENST00000557119,;PITX2,downstream_gene_variant,,ENST00000511990,;RP11-380D23.2,upstream_gene_variant,,ENST00000513690,;RP11-380D23.2,upstream_gene_variant,,ENST00000503456,;PITX2,non_coding_transcript_exon_variant,,ENST00000556049,;PITX2,non_coding_transcript_exon_variant,,ENST00000607868,;	1179	114	103	SUCCESS
AP1AR	55435	.	GRCh37	4	113153147	113153147	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	101	0	ENST00000274000.5:c.-101A>C		p.*34*	ENST00000274000	NM_018569.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3696.1	.	MUTECT|MUSE	.	CCTTGAACCCC	NONE	.	.	.	.	.	ENSP00000274000	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000274000	Transcript	.	.	ENSG00000138660	28808	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AP1AR_HUMAN	AP1AR	HGNC	.	.	UPI000013D9E5	SNV	AP1AR,5_prime_UTR_variant,,ENST00000309703,;AP1AR,5_prime_UTR_variant,,ENST00000274000,;RP11-73K9.2,upstream_gene_variant,,ENST00000562919,;AP1AR,non_coding_transcript_exon_variant,,ENST00000502954,;AP1AR,non_coding_transcript_exon_variant,,ENST00000510527,;AP1AR,non_coding_transcript_exon_variant,,ENST00000506522,;	255	101	73	SUCCESS
CCRN4L	0	.	GRCh37	4	139965969	139965969	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	60	149	0	ENST00000280614.2:c.637C>A	p.Gln213Lys	p.Q213K	ENST00000280614	NM_012118.3	213	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3743.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATCAAGGC	NONE	.	.	hmmpanther:PTHR12121:SF32,hmmpanther:PTHR12121,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219	.	.	ENSP00000280614	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000280614	Transcript	.	.	ENSG00000151014	14254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.26)	.	NOCT_HUMAN	CCRN4L	HGNC	.	.	UPI000013DC2C	SNV	CCRN4L,missense_variant,p.Gln213Lys,ENST00000280614,;ELF2,intron_variant,,ENST00000515489,;CCRN4L,non_coding_transcript_exon_variant,,ENST00000515616,;	830	149	155	SUCCESS
GALNTL6	442117	.	GRCh37	4	173730589	173730589	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	8	134	0	ENST00000506823.1:c.631G>A	p.Gly211Arg	p.G211R	ENST00000506823	NM_001034845.2	211	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS34104.1	631	MUTECT|MUSE	.	GAGAAGGACTC	NONE	.	.	Superfamily_domains:SSF53448,Pfam_domain:PF00535,Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34	.	.	ENSP00000423313	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000506823	Transcript	.	.	ENSG00000174473	33844	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLTL6_HUMAN	GALNTL6	HGNC	E5D8G0_HUMAN	.	UPI000058EB5C	SNV	GALNTL6,missense_variant,p.Gly194Arg,ENST00000508122,;GALNTL6,missense_variant,p.Gly211Arg,ENST00000506823,;	1288	134	132	SUCCESS
SORBS2	8470	.	GRCh37	4	186544895	186544895	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	65	155	0	ENST00000284776.7:c.1676A>G	p.Asn559Ser	p.N559S	ENST00000284776	NM_021069.4	559	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS59482.1	1976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGATTTTCT	NONE	.	.	hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122	.	.	ENSP00000347852	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000355634	Transcript	.	.	ENSG00000154556	24098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.06)	.	SRBS2_HUMAN	SORBS2	HGNC	C9JZ60_HUMAN,C9JN77_HUMAN,C9JL62_HUMAN,C9JI79_HUMAN,C9JDX2_HUMAN,C9JBR8_HUMAN,C9JBB0_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4Z9_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9J372_HUMAN,C9IZT7_HUMAN,C9IZ89_HUMAN	.	UPI000198C7F0	SNV	SORBS2,missense_variant,p.Asn463Ser,ENST00000418609,;SORBS2,missense_variant,p.Asn559Ser,ENST00000431808,;SORBS2,missense_variant,p.Asn559Ser,ENST00000284776,;SORBS2,missense_variant,p.Asn659Ser,ENST00000355634,;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000448662,;SORBS2,intron_variant,,ENST00000449407,;SORBS2,intron_variant,,ENST00000437304,;SORBS2,intron_variant,,ENST00000451974,;SORBS2,intron_variant,,ENST00000438278,;SORBS2,intron_variant,,ENST00000393528,;SORBS2,intron_variant,,ENST00000319471,;SORBS2,downstream_gene_variant,,ENST00000445625,;SORBS2,intron_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000487836,;SORBS2,downstream_gene_variant,,ENST00000495932,;SORBS2,downstream_gene_variant,,ENST00000487184,;	2690	155	169	SUCCESS
PCDH7	5099	.	GRCh37	4	30921844	30921844	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	45	133	0	ENST00000543491.1:c.3244T>A	p.Cys1082Ser	p.C1082S	ENST00000543491		1082	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS54753.1	3244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTTGCTAT	NONE	.	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027	.	.	ENSP00000441802	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	tolerated(0.38)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Cys772Ser,ENST00000511884,;PCDH7,missense_variant,p.Cys1082Ser,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509925,;	3244	133	115	SUCCESS
HTT	3064	.	GRCh37	4	3129224	3129224	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781353727	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	76	209	1	ENST00000355072.5:c.1636A>G	p.Met546Val	p.M546V	ENST00000355072	NM_002111.6	546	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS43206.1	1636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCATGGAC	NONE	byFrequency	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	12/67	.	.	.	.	.	.	.	.	rs781353727	12/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Met546Val,ENST00000355072,;HTT,upstream_gene_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000512909,;	1781	210	165	SUCCESS
GABRB1	2560	.	GRCh37	4	47163447	47163447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	68	0	ENST00000295454.3:c.422T>A	p.Ile141Asn	p.I141N	ENST00000295454	NM_000812.3	141	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS3474.1	422	MUTECT|MUSE	.	AATGATTCGAC	NONE	.	.	hmmpanther:PTHR18945:SF198,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000295454	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000295454	Transcript	.	.	ENSG00000163288	4081	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GBRB1_HUMAN	GABRB1	HGNC	D6REM0_HUMAN	.	UPI000012AFAC	SNV	GABRB1,missense_variant,p.Ile71Asn,ENST00000538619,;GABRB1,missense_variant,p.Ile108Asn,ENST00000513567,;GABRB1,missense_variant,p.Ile141Asn,ENST00000295454,;GABRB1,3_prime_UTR_variant,,ENST00000510909,;	714	68	67	SUCCESS
FRYL	285527	.	GRCh37	4	48512966	48512966	+	synonymous_variant	Silent	SNP	C	C	T	rs769705409	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	98	282	0	ENST00000358350.4:c.8181G>A	p.Glu2727=	p.E2727=	ENST00000358350	NM_015030.1	2727	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43227.1	8181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCTCATT	NONE	byFrequency	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	58/64	.	.	.	.	.	.	.	.	rs769705409	58/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,synonymous_variant,p.%3D,ENST00000358350,;FRYL,synonymous_variant,p.%3D,ENST00000507873,;FRYL,synonymous_variant,p.%3D,ENST00000503238,;FRYL,synonymous_variant,p.%3D,ENST00000537810,;FRYL,synonymous_variant,p.%3D,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000514617,;FRYL,non_coding_transcript_exon_variant,,ENST00000512810,;FRYL,upstream_gene_variant,,ENST00000503339,;	8786	282	279	SUCCESS
AMBN	258	.	GRCh37	4	71467187	71467187	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	100	0	ENST00000322937.6:c.347T>C	p.Leu116Ser	p.L116S	ENST00000322937	NM_016519.5	116	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS3543.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTGAAGC	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00817,Pfam_domain:PF05111,hmmpanther:PTHR14115:SF0,hmmpanther:PTHR14115	.	.	ENSP00000313809	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000322937	Transcript	1	.	ENSG00000178522	452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.04)	.	AMBN_HUMAN	AMBN	HGNC	Q546D7_HUMAN	.	UPI000000DCCB	SNV	AMBN,missense_variant,p.Leu101Ser,ENST00000449493,;AMBN,missense_variant,p.Leu116Ser,ENST00000322937,;	450	100	101	SUCCESS
ALB	213	.	GRCh37	4	74282058	74282071	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AATTCCAGAATGCG	AATTCCAGAATGCG	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	AATTCCAGAATGCG	AATTCCAGAATGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	119	67	223	0	ENST00000295897.4:c.1277_1289+1del		p.X426_splice	ENST00000295897	NM_000477.5	426		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	1277-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTACAAATTCCAGAATGCGTAAGT	NONE	.	.	.	.	.	ENSP00000295897	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	10/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000401494,;ALB,splice_donor_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000476441,;ALB,splice_donor_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,downstream_gene_variant,,ENST00000504043,;	1366-?	223	186	SUCCESS
LIN54	132660	.	GRCh37	4	83891563	83891563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	48	100	0	ENST00000340417.3:c.868A>G	p.Ser290Gly	p.S290G	ENST00000340417	NM_194282.2	290	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS3599.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTTTCAG	NONE	.	.	hmmpanther:PTHR12446:SF2,hmmpanther:PTHR12446	.	.	ENSP00000341947	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000340417	Transcript	.	.	ENSG00000189308	25397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.33)	.	LIN54_HUMAN	LIN54	HGNC	.	.	UPI00001D75DE	SNV	LIN54,missense_variant,p.Ser69Gly,ENST00000446851,;LIN54,missense_variant,p.Ser290Gly,ENST00000340417,;LIN54,missense_variant,p.Ser290Gly,ENST00000505397,;LIN54,missense_variant,p.Ser69Gly,ENST00000442461,;LIN54,missense_variant,p.Ser69Gly,ENST00000510557,;LIN54,3_prime_UTR_variant,,ENST00000395282,;LIN54,intron_variant,,ENST00000395283,;LIN54,intron_variant,,ENST00000506560,;LIN54,3_prime_UTR_variant,,ENST00000508171,;LIN54,3_prime_UTR_variant,,ENST00000510877,;	1246	100	119	SUCCESS
NUDT12	83594	.	GRCh37	5	102887925	102887925	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	24	89	0	ENST00000230792.2:c.1271G>C	p.Arg424Thr	p.R424T	ENST00000230792	NM_031438.2	424	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS4096.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTCTAGTG	NONE	.	.	PROSITE_profiles:PS51462,hmmpanther:PTHR22769,hmmpanther:PTHR22769:SF7,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000230792	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,missense_variant,p.Arg406Thr,ENST00000507423,;NUDT12,missense_variant,p.Arg424Thr,ENST00000230792,;NUDT12,downstream_gene_variant,,ENST00000515407,;	1368	89	118	SUCCESS
KCNN2	3781	.	GRCh37	5	113698857	113698857	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	72	0	ENST00000264773.3:c.385G>T	p.Glu129Ter	p.E129*	ENST00000264773	NM_001278204.1	129	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4114.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGAAAAG	NONE	.	.	hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Pfam_domain:PF03530,Prints_domain:PR01451	.	.	ENSP00000427120	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000512097	Transcript	.	.	ENSG00000080709	6291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNN2_HUMAN	KCNN2	HGNC	.	.	UPI000013D56A	SNV	KCNN2,stop_gained,p.Glu129Ter,ENST00000512097,;KCNN2,stop_gained,p.Glu129Ter,ENST00000264773,;KCNN2,non_coding_transcript_exon_variant,,ENST00000507750,;	1403	72	108	SUCCESS
FTMT	94033	.	GRCh37	5	121187759	121187759	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	20	0	ENST00000321339.1:c.101C>A	p.Pro34Gln	p.P34Q	ENST00000321339	NM_177478.1	34	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS4128.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCGGGGC	NONE	.	.	.	.	.	ENSP00000313691	.	1/1	.	.	.	.	.	.	.	.	COSM1736837	1/1	PASS	ENST00000321339	Transcript	.	.	ENSG00000181867	17345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.209)	.	deleterious_low_confidence(0.02)	1	FTMT_HUMAN	FTMT	HGNC	.	.	UPI000006F87E	SNV	FTMT,missense_variant,p.Pro34Gln,ENST00000321339,;	110	20	54	SUCCESS
TCF7	6932	.	GRCh37	5	133481891	133481891	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	31	87	0	ENST00000342854.5:c.1076-24G>A		p.*359*	ENST00000342854	NM_003202.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4169.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAGATAAC	NONE	.	.	.	.	.	ENSP00000340347	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342854	Transcript	.	.	ENSG00000081059	11639	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF7_HUMAN	TCF7	HGNC	E5RJ51_HUMAN,E5RG75_HUMAN,B3KQ75_HUMAN	.	UPI000006230C	SNV	TCF7,splice_acceptor_variant,,ENST00000321603,;TCF7,splice_acceptor_variant,,ENST00000378560,;TCF7,intron_variant,,ENST00000517799,;TCF7,intron_variant,,ENST00000517855,;TCF7,intron_variant,,ENST00000432532,;TCF7,intron_variant,,ENST00000520699,;TCF7,intron_variant,,ENST00000342854,;TCF7,intron_variant,,ENST00000395023,;TCF7,intron_variant,,ENST00000520958,;TCF7,intron_variant,,ENST00000395029,;TCF7,downstream_gene_variant,,ENST00000519037,;TCF7,downstream_gene_variant,,ENST00000518887,;TCF7,downstream_gene_variant,,ENST00000321584,;TCF7,downstream_gene_variant,,ENST00000378564,;SKP1,downstream_gene_variant,,ENST00000353411,;TCF7,downstream_gene_variant,,ENST00000522375,;TCF7,downstream_gene_variant,,ENST00000521639,;TCF7,downstream_gene_variant,,ENST00000517851,;TCF7,downstream_gene_variant,,ENST00000518915,;TCF7,downstream_gene_variant,,ENST00000517478,;TCF7,non_coding_transcript_exon_variant,,ENST00000522653,;TCF7,intron_variant,,ENST00000524342,;TCF7,intron_variant,,ENST00000519238,;TCF7,downstream_gene_variant,,ENST00000522561,;TCF7,downstream_gene_variant,,ENST00000519447,;TCF7,downstream_gene_variant,,ENST00000520652,;TCF7,downstream_gene_variant,,ENST00000517741,;	.	87	132	SUCCESS
RBM27	54439	.	GRCh37	5	145640456	145640456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	389	21	281	0	ENST00000265271.5:c.1888A>G	p.Ile630Val	p.I630V	ENST00000265271	NM_018989.1	630	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43378.1	1888	MUTECT|MUSE	.	TTAATATCCAG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398,Gene3D:3.30.70.330,Pfam_domain:PF13893,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000265271	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.802)	.	deleterious(0.01)	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,missense_variant,p.Ile630Val,ENST00000265271,;RBM27,missense_variant,p.Ile575Val,ENST00000506502,;RBM27,upstream_gene_variant,,ENST00000508019,;	2054	281	410	SUCCESS
GPRIN1	114787	.	GRCh37	5	176026192	176026192	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	33	0	ENST00000303991.4:c.644del	p.Gly215GlufsTer3	p.G215Efs*3	ENST00000303991	NM_052899.2	215	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS4405.1	644	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTTTCCCAGG	NONE	.	.	hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30	.	.	ENSP00000305839	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303991	Transcript	.	.	ENSG00000169258	24835	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRIN1_HUMAN	GPRIN1	HGNC	.	.	UPI0000246D49	deletion	GPRIN1,frameshift_variant,p.Gly215GlufsTer3,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000261944,;CDHR2,downstream_gene_variant,,ENST00000506348,;CDHR2,downstream_gene_variant,,ENST00000510636,;	822	33	68	SUCCESS
GRM6	2916	.	GRCh37	5	178418902	178418902	+	synonymous_variant	Silent	SNP	C	C	T	rs752091831	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	15	108	0	ENST00000231188.5:c.687G>A	p.Gly229=	p.G229=	ENST00000231188	NM_000843.3	229	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4442.1	687	RADIA|MUTECT|MUSE|VARSCANS	.	TCAACCCCACT	NONE	.	.	Prints_domain:PR00248,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	.	.	ENSP00000231188	.	2/10	.	.	.	.	.	.	.	.	rs752091831	2/10	PASS	ENST00000231188	Transcript	1	.	ENSG00000113262	4598	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRM6_HUMAN	GRM6	HGNC	.	.	UPI000013C947	SNV	GRM6,synonymous_variant,p.%3D,ENST00000231188,;GRM6,synonymous_variant,p.%3D,ENST00000517717,;RP11-281O15.4,downstream_gene_variant,,ENST00000519491,;GRM6,downstream_gene_variant,,ENST00000519175,;GRM6,upstream_gene_variant,,ENST00000518082,;	866	108	122	SUCCESS
C5orf60	285679	.	GRCh37	5	179069928	179069928	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	50	189	0	ENST00000448248.2:c.625C>G	p.His209Asp	p.H209D	ENST00000448248	NM_001142306.1	209	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS47353.1	625	RADIA|SOMATICSNIPER|VARSCANS	.	CTGGTGTGAAG	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF10	.	.	ENSP00000404583	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000448248	Transcript	.	.	ENSG00000204661	27753	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.702)	.	tolerated(0.16)	.	CE060_HUMAN	C5orf60	HGNC	.	.	UPI00004191D3	SNV	C5orf60,missense_variant,p.His209Asp,ENST00000448248,;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,missense_variant,p.His209Asp,ENST00000512899,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,;C5orf60,downstream_gene_variant,,ENST00000513845,;	651	189	239	SUCCESS
PRDM9	56979	.	GRCh37	5	23527459	23527459	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	16	242	0	ENST00000296682.3:c.2262G>A	p.Gly754=	p.G754=	ENST00000296682	NM_020227.2	754	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43307.1	2262	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGGCGGGG	BUFFER|p.R758H|c.2273G>A|3	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	.	.	ENSP00000296682	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,synonymous_variant,p.%3D,ENST00000296682,;	2444	242	149	SUCCESS
NUP155	9631	.	GRCh37	5	37302983	37302983	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	50	0	ENST00000231498.3:c.3345A>G	p.Leu1115=	p.L1115=	ENST00000231498	NM_153485.2	1115	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3921.1	3345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCTAGTCG	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350	.	.	ENSP00000231498	.	29/35	.	.	.	.	.	.	.	.	.	29/35	PASS	ENST00000231498	Transcript	1	.	ENSG00000113569	8063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU155_HUMAN	NUP155	HGNC	B4DLT2_HUMAN,B3KMK3_HUMAN	.	UPI0000001C7F	SNV	NUP155,synonymous_variant,p.%3D,ENST00000513532,;NUP155,synonymous_variant,p.%3D,ENST00000381843,;NUP155,synonymous_variant,p.%3D,ENST00000231498,;NUP155,non_coding_transcript_exon_variant,,ENST00000502533,;NUP155,non_coding_transcript_exon_variant,,ENST00000515054,;	3549	50	56	SUCCESS
SLC30A5	64924	.	GRCh37	5	68411780	68411780	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	115	0	ENST00000396591.3:c.811A>G	p.Ile271Val	p.I271V	ENST00000396591	NM_022902.4	271	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3996.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCATTATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF24	.	.	ENSP00000379836	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000396591	Transcript	.	.	ENSG00000145740	19089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.55)	.	ZNT5_HUMAN	SLC30A5	HGNC	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN	.	UPI0000073958	SNV	SLC30A5,missense_variant,p.Ile271Val,ENST00000396591,;CTC-498J12.3,intron_variant,,ENST00000504129,;SLC30A5,non_coding_transcript_exon_variant,,ENST00000507354,;SLC30A5,upstream_gene_variant,,ENST00000512367,;SLC30A5,upstream_gene_variant,,ENST00000513937,;	1421	115	103	SUCCESS
ROS1	6098	.	GRCh37	6	117746958	117746959	+	5_prime_UTR_variant	5'UTR	INS	-	-	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	26	0	ENST00000368508.3:c.-140dup		p.*47*	ENST00000368508	NM_002944.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5116.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATACTTGCC	NONE	.	.	.	.	.	ENSP00000357494	.	1/43	.	.	.	.	.	.	.	.	.	1/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	insertion	ROS1,5_prime_UTR_variant,,ENST00000368507,;ROS1,5_prime_UTR_variant,,ENST00000368508,;GOPC,intron_variant,,ENST00000467125,;	60-61	26	35	SUCCESS
GOPC	57120	.	GRCh37	6	117890868	117890868	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	9	132	0	ENST00000368498.2:c.944T>G	p.Ile315Ser	p.I315S	ENST00000368498	NM_020399.3	315	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS5117.1	944	MUTECT|MUSE	.	CAGAGATGAGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR16528,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000357484	.	7/9	.	.	.	.	.	.	.	.	COSM1620817	7/9	PASS	ENST00000368498	Transcript	.	.	ENSG00000047932	17643	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	GOPC_HUMAN	GOPC	HGNC	.	.	UPI0000070C27	SNV	GOPC,missense_variant,p.Ile307Ser,ENST00000052569,;GOPC,missense_variant,p.Ile315Ser,ENST00000535237,;GOPC,missense_variant,p.Ile315Ser,ENST00000368498,;DCBLD1,3_prime_UTR_variant,,ENST00000296955,;GOPC,non_coding_transcript_exon_variant,,ENST00000467125,;DCBLD1,non_coding_transcript_exon_variant,,ENST00000533453,;	1020	132	144	SUCCESS
EPB41L2	2037	.	GRCh37	6	131216151	131216151	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	110	0	ENST00000337057.3:c.1345T>G	p.Ser449Ala	p.S449A	ENST00000337057	NM_001431.3	449	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS5141.1	1345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGAAATTT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280:SF17,hmmpanther:PTHR23280,Pfam_domain:PF09380,Gene3D:2.30.29.30,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729	.	.	ENSP00000338481	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000337057	Transcript	.	.	ENSG00000079819	3379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	E41L2_HUMAN	EPB41L2	HGNC	E9PRG1_HUMAN,E9PQN0_HUMAN,E9PQD2_HUMAN,E9PJP4_HUMAN,E9PIG0_HUMAN	.	UPI0000129AF9	SNV	EPB41L2,missense_variant,p.Ser449Ala,ENST00000525193,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000527659,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000392427,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000445890,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000529208,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000368128,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000525271,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000528282,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000527411,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000530481,;EPB41L2,missense_variant,p.Ser449Ala,ENST00000337057,;EPB41L2,upstream_gene_variant,,ENST00000456097,;EPB41L2,downstream_gene_variant,,ENST00000530148,;EPB41L2,downstream_gene_variant,,ENST00000526333,;EPB41L2,downstream_gene_variant,,ENST00000528179,;	1527	110	100	SUCCESS
GFOD1	54438	.	GRCh37	6	13365293	13365293	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	55	0	ENST00000379287.3:c.855G>C	p.Val285=	p.V285=	ENST00000379287	NM_018988.3	285	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4524.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTCACCGG	NONE	.	.	hmmpanther:PTHR22604:SF100,hmmpanther:PTHR22604,Gene3D:3.30.360.10	.	.	ENSP00000368589	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379287	Transcript	.	.	ENSG00000145990	21096	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GFOD1_HUMAN	GFOD1	HGNC	.	.	UPI0000072450	SNV	GFOD1,synonymous_variant,p.%3D,ENST00000379287,;GFOD1,synonymous_variant,p.%3D,ENST00000379284,;	1520	55	83	SUCCESS
FAM8A1	51439	.	GRCh37	6	17601130	17601130	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	9	78	0	ENST00000259963.3:c.490C>G	p.Pro164Ala	p.P164A	ENST00000259963	NM_016255.2	164	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS4540.1	490	MUTECT|MUSE|VARSCANS	.	CGGCGCCGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13659	.	.	ENSP00000259963	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000259963	Transcript	.	.	ENSG00000137414	16372	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.018)	.	tolerated(0.54)	.	FA8A1_HUMAN	FAM8A1	HGNC	B4DK49_HUMAN	.	UPI0000062300	SNV	FAM8A1,missense_variant,p.Pro164Ala,ENST00000259963,;	545	78	109	SUCCESS
OR12D3	81797	.	GRCh37	6	29342336	29342336	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	8	166	0	ENST00000396806.3:c.729T>A	p.His243Gln	p.H243Q	ENST00000396806	NM_030959.2	243	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS4658.1	729	MUTECT|MUSE	.	ATAAAATGGGA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF193,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000380023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000396806	Transcript	.	.	ENSG00000112462	13963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O12D3_HUMAN	OR12D3	HGNC	D2XT27_HUMAN	.	UPI000000DCA9	SNV	OR12D3,missense_variant,p.His243Gln,ENST00000396806,;OR5V1,intron_variant,,ENST00000377154,;	733	166	222	SUCCESS
PRPF4B	8899	.	GRCh37	6	4032939	4032939	+	synonymous_variant	Silent	SNP	C	C	T	rs751880533	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	26	145	0	ENST00000337659.6:c.1188C>T	p.Ser396=	p.S396=	ENST00000337659	NM_003913.4	396	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4488.1	1188	RADIA|MUTECT|MUSE|VARSCANS	.	CGATCCTTAGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000337194	.	2/15	.	.	.	.	.	.	.	.	rs751880533	2/15	PASS	ENST00000337659	Transcript	.	.	ENSG00000112739	17346	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRP4B_HUMAN	PRPF4B	HGNC	H0YDJ3_HUMAN,F5H2U2_HUMAN	.	UPI000013DD12	SNV	PRPF4B,synonymous_variant,p.%3D,ENST00000337659,;PRPF4B,synonymous_variant,p.%3D,ENST00000538861,;PRPF4B,synonymous_variant,p.%3D,ENST00000480058,;PRPF4B,upstream_gene_variant,,ENST00000481109,;	1288	145	218	SUCCESS
CDC5L	988	.	GRCh37	6	44414400	44414400	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	23	60	0	ENST00000371477.3:c.2361del	p.Arg787SerfsTer12	p.R787Sfs*12	ENST00000371477	NM_001253.3	787	agA/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS4912.1	2361	INDELOCATOR*|VARSCANI*|PINDEL	.	ACATAGATATGC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000360532	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000371477	Transcript	.	.	ENSG00000096401	1743	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDC5L_HUMAN	CDC5L	HGNC	.	.	UPI000006EE42	deletion	CDC5L,frameshift_variant,p.Arg787SerfsTer12,ENST00000371477,;	2660	60	130	SUCCESS
TFAP2D	83741	.	GRCh37	6	50681591	50681591	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	37	0	ENST00000008391.3:c.-178G>A		p.*60*	ENST00000008391	NM_172238.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4933.1	.	MUTECT|MUSE	.	TTTAAGTGGGT	NONE	.	.	.	.	.	ENSP00000008391	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,5_prime_UTR_variant,,ENST00000008391,;TFAP2D,upstream_gene_variant,,ENST00000492804,;	51	37	31	SUCCESS
DOPEY1	0	.	GRCh37	6	83831694	83831694	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	7	245	0	ENST00000349129.2:c.1145T>G	p.Leu382Ter	p.L382*	ENST00000349129	NM_015018.3	382	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS4996.1	1145	MUTECT|MUSE	.	AACATTATATT	NONE	.	.	hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	.	ENSP00000195654	.	11/39	.	.	.	.	.	.	.	.	.	11/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,stop_gained,p.Leu373Ter,ENST00000237163,;DOPEY1,stop_gained,p.Leu373Ter,ENST00000369739,;DOPEY1,stop_gained,p.Leu382Ter,ENST00000349129,;DOPEY1,3_prime_UTR_variant,,ENST00000536812,;DOPEY1,upstream_gene_variant,,ENST00000604380,;	1405	245	232	SUCCESS
GPR63	81491	.	GRCh37	6	97247282	97247282	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	54	114	0	ENST00000229955.3:c.326A>C	p.Lys109Thr	p.K109T	ENST00000229955	NM_030784.3	109	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS5036.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTTTTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Lys109Thr,ENST00000417980,;GPR63,missense_variant,p.Lys109Thr,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	672	115	140	SUCCESS
NAA38	84316	.	GRCh37	7	117832038	117832043	+	inframe_deletion	In_Frame_Del	DEL	AAATTC	AAATTC	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	AAATTC	AAATTC	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	128	0	ENST00000249299.2:c.273_278del	p.Leu91_Ser93delinsPhe	p.L91_S93delinsF	ENST00000249299	NM_016200.4	91	ttAAATTCt/ttt	0	.	.	.	.	.	-	LNS/F	protein_coding	YES	CCDS5775.1	273-278	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTTTAAATTCTGTAG	NONE	.	.	hmmpanther:PTHR15588	.	.	ENSP00000249299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	deletion	NAA38,inframe_deletion,p.Leu91_Ser93delinsPhe,ENST00000249299,;NAA38,inframe_deletion,p.Leu70_Ser72delinsPhe,ENST00000422760,;NAA38,3_prime_UTR_variant,,ENST00000424702,;NAA38,downstream_gene_variant,,ENST00000411938,;	465-470	128	141	SUCCESS
GRM8	2918	.	GRCh37	7	126173564	126173564	+	synonymous_variant	Silent	SNP	C	C	A	rs775112738	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	54	136	0	ENST00000339582.2:c.1872G>T	p.Val624=	p.V624=	ENST00000339582		624	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5794.1	1872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCACGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000344173	.	9/11	.	.	.	.	.	.	.	.	rs775112738	9/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,synonymous_variant,p.%3D,ENST00000358373,;GRM8,synonymous_variant,p.%3D,ENST00000444921,;GRM8,synonymous_variant,p.%3D,ENST00000339582,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,synonymous_variant,p.%3D,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	2681	136	173	SUCCESS
TRIM24	8805	.	GRCh37	7	138239669	138239669	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	343	133	322	1	ENST00000343526.4:c.1488T>G	p.Pro496=	p.P496=	ENST00000343526		496	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5847.1	1488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTAGAAT	NONE	.	.	hmmpanther:PTHR24103:SF136,hmmpanther:PTHR24103	.	.	ENSP00000340507	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000343526	Transcript	.	.	ENSG00000122779	11812	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIF1A_HUMAN	TRIM24	HGNC	B4DYZ9_HUMAN	.	UPI00000012CB	SNV	TRIM24,synonymous_variant,p.%3D,ENST00000343526,;TRIM24,intron_variant,,ENST00000415680,;TRIM24,non_coding_transcript_exon_variant,,ENST00000493595,;TRIM24,intron_variant,,ENST00000497516,;	1703	323	477	SUCCESS
MGAM	8972	.	GRCh37	7	141735987	141735987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	33	115	0	ENST00000549489.2:c.1978G>T	p.Gly660Cys	p.G660C	ENST00000549489	NM_004668.2	660	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS47727.1	1978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTGGCTTT	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,PROSITE_patterns:PS00707,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	17/48	.	.	.	.	.	.	.	.	.	17/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Gly660Cys,ENST00000475668,;MGAM,missense_variant,p.Gly660Cys,ENST00000549489,;MGAM,upstream_gene_variant,,ENST00000490593,;MGAM,downstream_gene_variant,,ENST00000495045,;	2073	115	149	SUCCESS
MGAM	8972	.	GRCh37	7	141735988	141735988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	35	116	0	ENST00000549489.2:c.1979G>T	p.Gly660Val	p.G660V	ENST00000549489	NM_004668.2	660	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS47727.1	1979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGCTTTG	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,PROSITE_patterns:PS00707,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	17/48	.	.	.	.	.	.	.	.	.	17/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Gly660Val,ENST00000475668,;MGAM,missense_variant,p.Gly660Val,ENST00000549489,;MGAM,upstream_gene_variant,,ENST00000490593,;MGAM,downstream_gene_variant,,ENST00000495045,;	2074	116	152	SUCCESS
TWIST1	7291	.	GRCh37	7	19156374	19156374	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200369729	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	76	198	0	ENST00000242261.5:c.571A>G	p.Arg191Gly	p.R191G	ENST00000242261	NM_000474.3	191	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS5367.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTCCAGA	NONE	.	.	hmmpanther:PTHR23349:SF47,hmmpanther:PTHR23349	.	.	ENSP00000242261	.	1/2	.	.	.	.	.	.	.	.	rs200369729	1/2	PASS	ENST00000242261	Transcript	.	.	ENSG00000122691	12428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TWST1_HUMAN	TWIST1	HGNC	.	.	UPI00001377DC	SNV	TWIST1,missense_variant,p.Arg191Gly,ENST00000242261,;AC003986.7,upstream_gene_variant,,ENST00000417460,;AC003986.6,downstream_gene_variant,,ENST00000419944,;TWIST1,missense_variant,p.Arg59Gly,ENST00000443687,;TWIST1,missense_variant,p.Arg124Gly,ENST00000354571,;	922	198	194	SUCCESS
ABCA13	154664	.	GRCh37	7	48314641	48314641	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1437094633	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	115	0	ENST00000435803.1:c.5378T>C	p.Ile1793Thr	p.I1793T	ENST00000435803	NM_152701.3	1793	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47584.1	5378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAATTGTGA	BUFFER|p.F1736F|c.5208C>T|3	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	.	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Ile1793Thr,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	5402	115	113	SUCCESS
KDELR2	11014	.	GRCh37	7	6505873	6505873	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs771624924	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	83	0	ENST00000258739.4:c.433G>T	p.Glu145Ter	p.E145*	ENST00000258739	NM_006854.3	145	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5351.1	433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCGGCCT	NONE	.	.	hmmpanther:PTHR10585:SF6,hmmpanther:PTHR10585,Pfam_domain:PF00810,Prints_domain:PR00660	.	.	ENSP00000258739	.	4/5	.	.	.	.	.	.	.	.	rs771624924	4/5	PASS	ENST00000258739	Transcript	.	.	ENSG00000136240	6305	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERD22_HUMAN	KDELR2	HGNC	.	.	UPI000012A0CC	SNV	KDELR2,stop_gained,p.Glu145Ter,ENST00000258739,;KDELR2,intron_variant,,ENST00000490996,;DAGLB,intron_variant,,ENST00000436575,;KDELR2,intron_variant,,ENST00000463747,;KDELR2,non_coding_transcript_exon_variant,,ENST00000454368,;KDELR2,downstream_gene_variant,,ENST00000382267,;	618	83	71	SUCCESS
POM121	9883	.	GRCh37	7	72413572	72413572	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	51	193	0	ENST00000434423.2:c.3040A>G	p.Met1014Val	p.M1014V	ENST00000434423		1014	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS59059.1	2245	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCATGATC	NONE	.	.	hmmpanther:PTHR23193:SF5,hmmpanther:PTHR23193	.	.	ENSP00000378687	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.52)	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,missense_variant,p.Met749Val,ENST00000446813,;POM121,missense_variant,p.Met749Val,ENST00000257622,;POM121,missense_variant,p.Met1014Val,ENST00000434423,;POM121,missense_variant,p.Met749Val,ENST00000358357,;POM121,missense_variant,p.Met749Val,ENST00000395270,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;	3286	193	290	SUCCESS
HSPB1	3315	.	GRCh37	7	75932030	75932030	+	start_lost	Translation_Start_Site	SNP	A	A	G	rs200190722	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	36	97	0	ENST00000248553.6:c.1A>G	p.Met1?	p.M1?	ENST00000248553	NM_001540.3	1	Atg/Gtg	0	C:0.0007	.	.	.	.	G	M/V	protein_coding	YES	CCDS5583.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCATGACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11527:SF114,hmmpanther:PTHR11527	.	C:0	ENSP00000248553	.	1/3	.	.	.	.	.	.	.	.	rs200190722	1/3	PASS	ENST00000248553	Transcript	.	.	ENSG00000106211	5246	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.05)	.	HSPB1_HUMAN	HSPB1	HGNC	C9J3N8_HUMAN	.	UPI000004D118	SNV	HSPB1,start_lost,p.Met1?,ENST00000248553,;HSPB1,upstream_gene_variant,,ENST00000429938,;HSPB1,start_lost,p.Met1?,ENST00000447574,;	170	97	142	SUCCESS
PCLO	27445	.	GRCh37	7	82538312	82538312	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	72	0	ENST00000333891.9:c.13318G>T	p.Glu4440Ter	p.E4440*	ENST00000333891	NM_033026.5	4440	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS47630.1	13318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTCACGAC	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,stop_gained,p.Glu4440Ter,ENST00000333891,;PCLO,stop_gained,p.Glu4440Ter,ENST00000423517,;	13656	72	89	SUCCESS
COL1A2	1278	.	GRCh37	7	94057146	94057146	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	54	0	ENST00000297268.6:c.3475C>G	p.Pro1159Ala	p.P1159A	ENST00000297268	NM_000089.3	1159	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS34682.1	3475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACCCAGCT	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441,Pfam_domain:PF01410,SMART_domains:SM00038	.	.	ENSP00000297268	.	49/52	.	.	.	.	.	.	.	.	.	49/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,missense_variant,p.Pro1159Ala,ENST00000297268,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000488121,;COL1A2,downstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,;	3946	54	76	SUCCESS
FZD6	8323	.	GRCh37	8	104341972	104341972	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs554970152	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	6	154	0	ENST00000358755.4:c.1631A>G	p.Tyr544Cys	p.Y544C	ENST00000358755	NM_001164616.1	544	tAt/tGt	0	.	G:0.0008	.	G:0	.	G	Y/C	protein_coding	YES	CCDS6298.1	1631	MUTECT|MUSE	.	GCACTATAAAC	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF75	G:0	.	ENSP00000351605	G:0	6/7	.	.	.	.	.	.	.	.	rs554970152	6/7	PASS	ENST00000358755	Transcript	1	G:0.0002	ENSG00000164930	4044	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	G:0	tolerated_low_confidence(0.13)	.	FZD6_HUMAN	FZD6	HGNC	B7ZB79_HUMAN	.	UPI0000061EB0	SNV	FZD6,missense_variant,p.Tyr544Cys,ENST00000358755,;FZD6,missense_variant,p.Tyr239Cys,ENST00000540287,;FZD6,missense_variant,p.Tyr544Cys,ENST00000522566,;FZD6,missense_variant,p.Tyr512Cys,ENST00000523739,;FZD6,3_prime_UTR_variant,,ENST00000519011,;FZD6,3_prime_UTR_variant,,ENST00000522484,;FZD6,3_prime_UTR_variant,,ENST00000521195,;FZD6,3_prime_UTR_variant,,ENST00000523933,;	1948	154	142	SUCCESS
OXR1	55074	.	GRCh37	8	107705036	107705036	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	87	0	ENST00000442977.2:c.609T>G	p.Thr203=	p.T203=	ENST00000442977	NM_001198532.1	203	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS56548.1	609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTTCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354	.	.	ENSP00000405424	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,synonymous_variant,p.%3D,ENST00000497705,;OXR1,synonymous_variant,p.%3D,ENST00000442977,;OXR1,synonymous_variant,p.%3D,ENST00000312046,;OXR1,synonymous_variant,p.%3D,ENST00000445937,;OXR1,synonymous_variant,p.%3D,ENST00000531443,;OXR1,synonymous_variant,p.%3D,ENST00000517566,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,non_coding_transcript_exon_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;TAGLN2P1,downstream_gene_variant,,ENST00000524097,;	708	87	97	SUCCESS
EIF3E	3646	.	GRCh37	8	109226846	109226846	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	214	12	234	0	ENST00000220849.5:c.1051A>G	p.Ile351Val	p.I351V	ENST00000220849	NM_001568.2	351	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6308.1	1051	MUTECT|MUSE	.	GCTGATACACT	NONE	.	.	HAMAP:MF_03004,hmmpanther:PTHR10317,Pfam_domain:PF01399,Gene3D:1.10.10.10,SMART_domains:SM00088,PIRSF_domain:PIRSF016255,Superfamily_domains:SSF46785	.	.	ENSP00000220849	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000220849	Transcript	.	.	ENSG00000104408	3277	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.207)	.	tolerated(0.07)	.	EIF3E_HUMAN	EIF3E	HGNC	E5RIT4_HUMAN,E5RGA2_HUMAN,B3KW56_HUMAN	.	UPI0000000C92	SNV	EIF3E,missense_variant,p.Ile258Val,ENST00000519030,;EIF3E,missense_variant,p.Ile351Val,ENST00000220849,;EIF3E,missense_variant,p.Ile224Val,ENST00000519627,;EIF3E,intron_variant,,ENST00000522352,;EIF3E,non_coding_transcript_exon_variant,,ENST00000519517,;EIF3E,downstream_gene_variant,,ENST00000519413,;EIF3E,non_coding_transcript_exon_variant,,ENST00000521614,;EIF3E,downstream_gene_variant,,ENST00000522445,;	1114	234	226	SUCCESS
COL14A1	7373	.	GRCh37	8	121296007	121296007	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	88	0	ENST00000297848.3:c.3957T>A	p.Val1319=	p.V1319=	ENST00000297848	NM_021110.2	1319	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34938.1	3957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTTATTTT	NONE	.	.	hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000297848	.	32/48	.	.	.	.	.	.	.	.	.	32/48	PASS	ENST00000297848	Transcript	1	.	ENSG00000187955	2191	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COEA1_HUMAN	COL14A1	HGNC	.	.	UPI000046D377	SNV	COL14A1,synonymous_variant,p.%3D,ENST00000309791,;COL14A1,synonymous_variant,p.%3D,ENST00000247781,;COL14A1,synonymous_variant,p.%3D,ENST00000297848,;	4227	88	95	SUCCESS
MTBP	27085	.	GRCh37	8	121468896	121468896	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	51	0	ENST00000305949.1:c.733A>T	p.Ile245Leu	p.I245L	ENST00000305949	NM_022045.4	245	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS6333.1	733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGATATGG	NONE	.	.	hmmpanther:PTHR14382,hmmpanther:PTHR14382:SF1,Pfam_domain:PF14918	.	.	ENSP00000303398	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000305949	Transcript	.	.	ENSG00000172167	7417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.622)	.	deleterious(0.03)	.	MTBP_HUMAN	MTBP	HGNC	.	.	UPI00000703F0	SNV	MTBP,missense_variant,p.Ile245Leu,ENST00000305949,;MTBP,missense_variant,p.Ile245Leu,ENST00000523373,;MTBP,upstream_gene_variant,,ENST00000522449,;MTBP,downstream_gene_variant,,ENST00000522308,;	778	51	51	SUCCESS
ANXA13	312	.	GRCh37	8	124696885	124696885	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1375721396	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	36	110	0	ENST00000419625.1:c.796G>T	p.Glu266Ter	p.E266*	ENST00000419625	NM_004306.2	266	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34939.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTCCTCAT	NONE	.	.	hmmpanther:PTHR10502:SF105,hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196	.	.	ENSP00000262219	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000262219	Transcript	.	.	ENSG00000104537	536	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANX13_HUMAN	ANXA13	HGNC	E5RIN3_HUMAN	.	UPI000016A41E	SNV	ANXA13,stop_gained,p.Glu307Ter,ENST00000262219,;ANXA13,stop_gained,p.Glu266Ter,ENST00000419625,;	987	110	112	SUCCESS
ANXA13	312	.	GRCh37	8	124696886	124696886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	36	110	0	ENST00000419625.1:c.795G>T	p.Glu265Asp	p.E265D	ENST00000419625	NM_004306.2	265	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS34939.1	918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCCTCATC	NONE	.	.	hmmpanther:PTHR10502:SF105,hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196	.	.	ENSP00000262219	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000262219	Transcript	.	.	ENSG00000104537	536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	tolerated(1)	.	ANX13_HUMAN	ANXA13	HGNC	E5RIN3_HUMAN	.	UPI000016A41E	SNV	ANXA13,missense_variant,p.Glu306Asp,ENST00000262219,;ANXA13,missense_variant,p.Glu265Asp,ENST00000419625,;	986	110	114	SUCCESS
MROH5	389690	.	GRCh37	8	142486217	142486217	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749452759	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	73	0	ENST00000430863.1:c.1476G>T	p.Arg492Ser	p.R492S	ENST00000430863	NM_207414.2	492	agG/agT	0	.	.	.	.	.	A	.	nonsense_mediated_decay	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTCCTTTC	NONE	.	.	.	.	.	ENSP00000427945	.	.	.	.	.	.	.	.	.	.	rs749452759,COSM3645861,COSM3645860	.	PASS	ENST00000523857	Transcript	.	.	ENSG00000226807	42976	.	.	MODIFIER	12/26	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	.	MROH5	HGNC	E5RFU7_HUMAN	.	UPI0001E8F5FA	SNV	MROH5,intron_variant,,ENST00000523857,;MROH5,intron_variant,,ENST00000521053,;MROH5,missense_variant,p.Arg492Ser,ENST00000430863,;	.	73	81	SUCCESS
LYNX1	66004	.	GRCh37	8	143857324	143857324	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs759423658	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	40	0	ENST00000335822.5:c.52G>A	p.Ala18Thr	p.A18T	ENST00000335822	NM_023946.2	18	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34951.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCCAGAG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16983,hmmpanther:PTHR16983:SF11,Superfamily_domains:SSF57302	.	.	ENSP00000337950	.	2/5	.	.	.	.	.	.	.	.	rs759423658	2/5	PASS	ENST00000335822	Transcript	.	.	ENSG00000180155	29604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0)	.	LYNX1_HUMAN	LYNX1	HGNC	.	.	UPI0000168665	SNV	LYNX1,missense_variant,p.Ala18Thr,ENST00000335822,;LYNX1,missense_variant,p.Ala18Thr,ENST00000345173,;LYNX1,missense_variant,p.Ala18Thr,ENST00000395192,;LYNX1,missense_variant,p.Ala18Thr,ENST00000520131,;LYNX1,missense_variant,p.Ala18Thr,ENST00000522929,;LYNX1,missense_variant,p.Ala18Thr,ENST00000523332,;LYNX1,missense_variant,p.Ala18Thr,ENST00000398906,;LYNX1,intron_variant,,ENST00000522906,;	680	40	60	SUCCESS
RP1	6101	.	GRCh37	8	55539282	55539282	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	9	224	0	ENST00000220676.1:c.2840G>T	p.Cys947Phe	p.C947F	ENST00000220676	NM_006269.1	947	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS6160.1	2840	MUTECT|MUSE	.	AAATTGTAGCA	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.69)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Cys947Phe,ENST00000220676,;	2988	224	184	SUCCESS
COPS5	10987	.	GRCh37	8	67968770	67968802	+	protein_altering_variant	In_Frame_Del	DEL	CAAAATCTTCTATTTTATTAAGTGGAATAGTCT	CAAAATCTTCTATTTTATTAAGTGGAATAGTCT	GTC	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	CAAAATCTTCTATTTTATTAAGTGGAATAGTCT	CAAAATCTTCTATTTTATTAAGTGGAATAGTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	78	19	127	0	ENST00000357849.4:c.611_643delinsGAC	p.Gln204_Gly215delinsArgArg	p.Q204_G215delinsRR	ENST00000357849	NM_006837.2	204	cAGACTATTCCACTTAATAAAATAGAAGATTTTGgt/cGACgt	0	.	.	.	.	.	GTC	QTIPLNKIEDFG/RR	protein_coding	YES	CCDS6198.1	611-643	INDELOCATOR*|PINDEL	.	GTACACCAAAATCTTCTATTTTATTAAGTGGAATAGTCTGGTAC	NONE	.	.	hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF6	.	.	ENSP00000350512	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000357849	Transcript	.	.	ENSG00000121022	2240	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSN5_HUMAN	COPS5	HGNC	E5RHF2_HUMAN	.	UPI000006D7AB	substitution	COPS5,protein_altering_variant,p.Gln140_Gly151delinsArgArg,ENST00000517736,;COPS5,protein_altering_variant,p.Gln140_Gly151delinsArgArg,ENST00000518747,;COPS5,protein_altering_variant,p.Gln204_Gly215delinsArgArg,ENST00000357849,;AC109335.1,upstream_gene_variant,,ENST00000578628,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000517834,;COPS5,non_coding_transcript_exon_variant,,ENST00000523086,;COPS5,downstream_gene_variant,,ENST00000517793,;COPS5,downstream_gene_variant,,ENST00000519057,;COPS5,downstream_gene_variant,,ENST00000519963,;COPS5,3_prime_UTR_variant,,ENST00000523890,;COPS5,3_prime_UTR_variant,,ENST00000518374,;COPS5,non_coding_transcript_exon_variant,,ENST00000521509,;COPS5,non_coding_transcript_exon_variant,,ENST00000521386,;COPS5,downstream_gene_variant,,ENST00000517406,;	932-964	127	97	SUCCESS
MUSK	4593	.	GRCh37	9	113550073	113550073	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776795823	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	86	0	ENST00000374448.4:c.1882G>A	p.Ala628Thr	p.A628T	ENST00000374448	NM_005592.3	628	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS48005.1	1882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGCCCTC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:3.30.200.20,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50011	.	.	ENSP00000363571	.	14/15	.	.	.	.	.	.	.	.	rs776795823,COSM3903024,COSM3903023,COSM3903025	14/15	PASS	ENST00000374448	Transcript	.	.	ENSG00000030304	7525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0.03)	0,1,1,1	MUSK_HUMAN	MUSK	HGNC	.	.	UPI000006D2F7	SNV	MUSK,missense_variant,p.Ala628Thr,ENST00000374448,;MUSK,missense_variant,p.Ala144Thr,ENST00000374438,;MUSK,missense_variant,p.Ala628Thr,ENST00000189978,;MUSK,missense_variant,p.Ala620Thr,ENST00000416899,;	2016	86	77	SUCCESS
RGS3	5998	.	GRCh37	9	116247941	116247941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	83	0	ENST00000350696.5:c.657G>T	p.Leu219Phe	p.L219F	ENST00000350696		219	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS43869.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTGGTTAC	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,PROSITE_profiles:PS50004	.	.	ENSP00000363255	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000374140	Transcript	.	.	ENSG00000138835	9999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGS3_HUMAN	RGS3	HGNC	H7BXY1_HUMAN,C9J6G2_HUMAN	.	UPI00001C0F58	SNV	RGS3,missense_variant,p.Leu107Phe,ENST00000317613,;RGS3,missense_variant,p.Leu219Phe,ENST00000374140,;RGS3,missense_variant,p.Leu219Phe,ENST00000350696,;RGS3,non_coding_transcript_exon_variant,,ENST00000488259,;RGS3,non_coding_transcript_exon_variant,,ENST00000478599,;RGS3,non_coding_transcript_exon_variant,,ENST00000466735,;	866	83	76	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123298694	123298694	+	synonymous_variant	Silent	SNP	G	G	A	rs778174320	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	54	0	ENST00000349780.4:c.618C>T	p.His206=	p.H206=	ENST00000349780	NM_018249.5	206	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS6823.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGTGCAT	NONE	byFrequency	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	7/38	.	.	.	.	.	.	.	.	rs778174320,COSM3903643	7/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,synonymous_variant,p.%3D,ENST00000349780,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360822,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360190,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000359309,;CDK5RAP2,upstream_gene_variant,,ENST00000482047,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000472883,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000480112,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000473282,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000481266,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	798	54	55	SUCCESS
PSMB7	5695	.	GRCh37	9	127119082	127119082	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	69	0	ENST00000259457.3:c.683T>G	p.Phe228Cys	p.F228C	ENST00000259457	NM_002799.3	228	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS6855.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAAAATCC	NONE	.	.	Superfamily_domains:SSF56235,Gene3D:3.60.20.10,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF42	.	.	ENSP00000259457	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000259457	Transcript	.	.	ENSG00000136930	9544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.01)	.	PSB7_HUMAN	PSMB7	HGNC	E9KL30_HUMAN	.	UPI00001325C7	SNV	PSMB7,missense_variant,p.Phe228Cys,ENST00000259457,;PSMB7,3_prime_UTR_variant,,ENST00000536392,;NEK6,downstream_gene_variant,,ENST00000546191,;NEK6,downstream_gene_variant,,ENST00000373603,;NEK6,downstream_gene_variant,,ENST00000540326,;NEK6,downstream_gene_variant,,ENST00000394199,;NEK6,downstream_gene_variant,,ENST00000320246,;NEK6,downstream_gene_variant,,ENST00000539416,;NEK6,downstream_gene_variant,,ENST00000545174,;NEK6,downstream_gene_variant,,ENST00000373600,;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;	697	69	65	SUCCESS
STXBP1	6812	.	GRCh37	9	130374600	130374600	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	81	0	ENST00000373299.1:c.-83C>G		p.*28*	ENST00000373299	NM_001032221.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6874.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCAGCG	NONE	.	.	.	.	.	ENSP00000362399	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000373302	Transcript	.	.	ENSG00000136854	11444	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB1_HUMAN	STXBP1	HGNC	.	.	UPI0000006C0B	SNV	STXBP1,5_prime_UTR_variant,,ENST00000373302,;STXBP1,5_prime_UTR_variant,,ENST00000373299,;STXBP1,upstream_gene_variant,,ENST00000476182,;	57	81	63	SUCCESS
MPDZ	8777	.	GRCh37	9	13110739	13110739	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs186287156	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	57	0	ENST00000319217.7:c.5725G>T	p.Val1909Phe	p.V1909F	ENST00000319217	NM_001261406.1	1909	Gtt/Ttt	0	.	A:0	.	A:0	.	A	V/F	protein_coding	YES	CCDS47951.1	5638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAACCTGCA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF10,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	A:0.002	.	ENSP00000439807	A:0	43/46	.	.	.	.	.	.	.	.	rs186287156	43/46	PASS	ENST00000541718	Transcript	.	A:0.0004	ENSG00000107186	7208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	A:0	deleterious(0)	.	MPDZ_HUMAN	MPDZ	HGNC	.	.	UPI00015367D3	SNV	MPDZ,missense_variant,p.Val450Phe,ENST00000438511,;MPDZ,missense_variant,p.Val1880Phe,ENST00000381022,;MPDZ,missense_variant,p.Val1876Phe,ENST00000447879,;MPDZ,missense_variant,p.Val845Phe,ENST00000545857,;MPDZ,missense_variant,p.Val143Phe,ENST00000541093,;MPDZ,missense_variant,p.Val1909Phe,ENST00000319217,;MPDZ,missense_variant,p.Val1923Phe,ENST00000546205,;MPDZ,missense_variant,p.Val1909Phe,ENST00000381015,;MPDZ,missense_variant,p.Val1847Phe,ENST00000536827,;MPDZ,missense_variant,p.Val768Phe,ENST00000538841,;MPDZ,missense_variant,p.Val1880Phe,ENST00000541718,;MPDZ,splice_region_variant,,ENST00000381017,;MPDZ,splice_region_variant,,ENST00000319198,;MPDZ,splice_region_variant,,ENST00000539508,;MPDZ,splice_region_variant,,ENST00000542806,;MPDZ,downstream_gene_variant,,ENST00000437441,;	5860	57	48	SUCCESS
C9orf62	0	.	GRCh37	9	138235220	138235220	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	9	181	0	ENST00000320778.2:c.-25G>T		p.*9*	ENST00000320778	NM_173520.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59154.1	.	MUTECT|MUSE	.	CCGTGGCACCC	NONE	.	.	.	.	.	ENSP00000326574	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000320778	Transcript	.	.	ENSG00000178243	28581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CI062_HUMAN	C9orf62	HGNC	.	.	UPI000006CE6D	SNV	C9orf62,5_prime_UTR_variant,,ENST00000320778,;	126	181	183	SUCCESS
CDKN2A	1029	.	GRCh37	9	21974751	21974760	+	frameshift_variant	Frame_Shift_Del	DEL	CTACCCGACC	CTACCCGACC	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	CTACCCGACC	CTACCCGACC	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	27	0	ENST00000304494.5:c.67_76del	p.Gly23ArgfsTer27	p.G23Rfs*27	ENST00000304494	NM_000077.4	23	GGTCGGGTAGag/ag	0	.	.	.	.	.	-	GRVE/X	protein_coding	YES	CCDS56565.1	67-76	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCCTCTACCCGACCCCGGG	CODON|p.0?|c.1_471del471|15,CODON|p.R24P|c.71G>C|3,BUFFER|p.G23V|c.68G>T|3,BUFFER|p.A20P|c.58G>C|3,BUFFER|p.A19_A20insTA|c.57_58insACGGCC|3	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF00023,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	deletion	CDKN2A,frameshift_variant,p.Gly23ArgfsTer27,ENST00000446177,;CDKN2A,frameshift_variant,p.Gly23ArgfsTer27,ENST00000304494,;CDKN2A,frameshift_variant,p.Gly23ArgfsTer27,ENST00000498124,;CDKN2A,frameshift_variant,p.Gly23ArgfsTer27,ENST00000579122,;CDKN2A,intron_variant,,ENST00000579755,;CDKN2A,intron_variant,,ENST00000494262,;CDKN2A,intron_variant,,ENST00000498628,;CDKN2A,intron_variant,,ENST00000530628,;CDKN2A,intron_variant,,ENST00000361570,;CDKN2A,upstream_gene_variant,,ENST00000578845,;CDKN2A,upstream_gene_variant,,ENST00000479692,;CDKN2A,upstream_gene_variant,,ENST00000497750,;CDKN2A,upstream_gene_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,frameshift_variant,p.Gly23ArgfsTer103,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	106-115	27	33	SUCCESS
ACO1	48	.	GRCh37	9	32424547	32424547	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs774323213	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	109	0	ENST00000309951.6:c.1072G>A	p.Val358Ile	p.V358I	ENST00000309951	NM_002197.2	358	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS6525.1	1072	MUTECT|MUSE	.	AACAGGTTGTG	NONE	.	.	hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Gene3D:3.40.1060.10,Superfamily_domains:SSF53732	.	.	ENSP00000309477	.	10/21	.	.	.	.	.	.	.	.	rs774323213	10/21	PASS	ENST00000309951	Transcript	.	.	ENSG00000122729	117	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.14)	.	ACOC_HUMAN	ACO1	HGNC	Q9HBB2_HUMAN	.	UPI000012D87E	SNV	ACO1,missense_variant,p.Val358Ile,ENST00000379923,;ACO1,missense_variant,p.Val358Ile,ENST00000309951,;ACO1,missense_variant,p.Val259Ile,ENST00000541043,;	1210	109	91	SUCCESS
SPATA31D4	389761	.	GRCh37	9	84547248	84547248	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	83	0	ENST00000419782.2:n.2172C>T		p.*724*	ENST00000419782				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	GAGAGCATTCA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000585776,;RP11-383M4.2,upstream_gene_variant,,ENST00000427387,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000341875,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000419782,;	.	83	88	SUCCESS
DAPK1	1612	.	GRCh37	9	90219888	90219888	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs767155711	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	32	118	0	ENST00000358077.5:c.83del	p.Lys28ArgfsTer29	p.K28Rfs*29	ENST00000358077	NM_001288731.1	28	Aag/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS43842.1	82	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGTGAAGAAA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964,PROSITE_profiles:PS50011	.	.	ENSP00000386135	.	3/26	.	.	.	.	.	.	.	.	rs767155711	3/26	PASS	ENST00000408954	Transcript	.	.	ENSG00000196730	2674	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	deletion	DAPK1,frameshift_variant,p.Lys28ArgfsTer29,ENST00000358077,;DAPK1,frameshift_variant,p.Lys28ArgfsTer29,ENST00000491893,;DAPK1,frameshift_variant,p.Lys28ArgfsTer29,ENST00000408954,;DAPK1,frameshift_variant,p.Lys28ArgfsTer29,ENST00000469640,;DAPK1,frameshift_variant,p.Lys28ArgfsTer29,ENST00000472284,;DAPK1,non_coding_transcript_exon_variant,,ENST00000472344,;DAPK1,non_coding_transcript_exon_variant,,ENST00000496522,;DAPK1,frameshift_variant,p.Lys28ArgfsTer29,ENST00000489291,;DAPK1,non_coding_transcript_exon_variant,,ENST00000469067,;	417	118	121	SUCCESS
IGSF1	3547	.	GRCh37	X	130420012	130420012	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	27	61	0	ENST00000361420.3:c.108T>C	p.Pro36=	p.P36=	ENST00000361420		36	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS55491.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGAGGGTC	NONE	.	.	Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000359940	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000370903	Transcript	.	.	ENSG00000147255	5948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGSF1_HUMAN	IGSF1	HGNC	.	.	UPI0000E0C769	SNV	IGSF1,synonymous_variant,p.%3D,ENST00000370900,;IGSF1,synonymous_variant,p.%3D,ENST00000361420,;IGSF1,synonymous_variant,p.%3D,ENST00000370904,;IGSF1,synonymous_variant,p.%3D,ENST00000370910,;IGSF1,synonymous_variant,p.%3D,ENST00000370903,;IGSF1,synonymous_variant,p.%3D,ENST00000370901,;IGSF1,upstream_gene_variant,,ENST00000469836,;	391	61	45	SUCCESS
VGLL1	51442	.	GRCh37	X	135618164	135618164	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	41	39	0	ENST00000370634.3:c.-16G>A		p.*6*	ENST00000370634	NM_016267.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14658.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGTGTCA	NONE	.	.	.	.	.	ENSP00000359668	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000370634	Transcript	.	.	ENSG00000102243	20985	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLL1_HUMAN	VGLL1	HGNC	.	.	UPI0000071D9A	SNV	VGLL1,5_prime_UTR_variant,,ENST00000370634,;VGLL1,upstream_gene_variant,,ENST00000440515,;VGLL1,upstream_gene_variant,,ENST00000456412,;	155	39	47	SUCCESS
SLITRK4	139065	.	GRCh37	X	142716502	142716502	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	64	0	ENST00000338017.4:c.2423A>T	p.Lys808Met	p.K808M	ENST00000338017		808	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS14679.1	2423	RADIA|MUTECT|MUSE	.	CACTCTTCCTT	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Lys808Met,ENST00000381779,;SLITRK4,missense_variant,p.Lys808Met,ENST00000338017,;SLITRK4,missense_variant,p.Lys808Met,ENST00000356928,;	2649	64	67	SUCCESS
SLITRK4	139065	.	GRCh37	X	142716504	142716504	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1251514394	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	61	0	ENST00000338017.4:c.2421G>C	p.Arg807Ser	p.R807S	ENST00000338017		807	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS14679.1	2421	RADIA|MUTECT|MUSE	.	CTCTTCCTTTG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	COSM3558788,COSM404894	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.037)	.	tolerated(0.67)	1,1	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Arg807Ser,ENST00000381779,;SLITRK4,missense_variant,p.Arg807Ser,ENST00000338017,;SLITRK4,missense_variant,p.Arg807Ser,ENST00000356928,;	2647	61	65	SUCCESS
MAGEA1	4100	.	GRCh37	X	152482572	152482572	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	7	110	0	ENST00000356661.5:c.439G>T	p.Ala147Ser	p.A147S	ENST00000356661	NM_004988.4	147	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14720.1	439	MUTECT|MUSE	.	AGAGGCTTTGC	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF49,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000349085	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356661	Transcript	.	.	ENSG00000198681	6796	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0.03)	.	MAGA1_HUMAN	MAGEA1	HGNC	A8IF97_HUMAN	.	UPI0000035FCB	SNV	MAGEA1,missense_variant,p.Ala147Ser,ENST00000356661,;	658	110	123	SUCCESS
DMD	1756	.	GRCh37	X	32827649	32827649	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	35	51	0	ENST00000357033.4:c.610A>T	p.Arg204Ter	p.R204*	ENST00000357033	NM_004007.2	204	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS14233.1	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCTGGCGA	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47576	.	.	ENSP00000354923	.	7/79	.	.	.	.	.	.	.	.	.	7/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,stop_gained,p.Arg204Ter,ENST00000357033,;DMD,stop_gained,p.Arg200Ter,ENST00000378677,;DMD,stop_gained,p.Arg196Ter,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	817	51	59	SUCCESS
AMER1	139285	.	GRCh37	X	63412647	63412647	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	31	45	0	ENST00000330258.3:c.520A>G	p.Ser174Gly	p.S174G	ENST00000330258	NM_152424.3	174	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS14377.2	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTAAAAA	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0,Pfam_domain:PF09422	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	deleterious(0.03)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Ser174Gly,ENST00000374869,;AMER1,missense_variant,p.Ser174Gly,ENST00000403336,;AMER1,missense_variant,p.Ser174Gly,ENST00000330258,;	793	45	41	SUCCESS
ATP7A	538	.	GRCh37	X	77258571	77258571	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	66	79	0	ENST00000341514.6:c.1545A>T		p.X515_splice	ENST00000341514	NM_000052.5	515	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS35339.1	1545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGAATATA	NONE	.	.	Prints_domain:PR00942,Superfamily_domains:SSF55008,Pfam_domain:PF00403,Gene3D:3.30.70.100,TIGRFAM_domain:TIGR00003,hmmpanther:PTHR24093,PROSITE_patterns:PS01047,hmmpanther:PTHR24093:SF211,PROSITE_profiles:PS50846	.	.	ENSP00000345728	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000341514	Transcript	.	.	ENSG00000165240	869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP7A_HUMAN	ATP7A	HGNC	.	.	UPI000013E478	SNV	ATP7A,synonymous_variant,p.%3D,ENST00000343533,;ATP7A,synonymous_variant,p.%3D,ENST00000341514,;ATP7A,intron_variant,,ENST00000350425,;	1700	79	77	SUCCESS
MMP21	118856	.	GRCh37	10	127460888	127460888	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	60	0	ENST00000368808.3:c.878A>G	p.His293Arg	p.H293R	ENST00000368808	NM_147191.1	293	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS7647.1	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGTGAGGC	NONE	.	.	hmmpanther:PTHR10201:SF123,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000357798	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000368808	Transcript	.	.	ENSG00000154485	14357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MMP21_HUMAN	MMP21	HGNC	.	.	UPI000006FDF6	SNV	MMP21,missense_variant,p.His293Arg,ENST00000368808,;	878	60	82	SUCCESS
FRG2B	441581	.	GRCh37	10	135440090	135440090	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756230246	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	26	199	0	ENST00000425520.1:c.157G>A	p.Glu53Lys	p.E53K	ENST00000425520	NM_001080998.1	53	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS44502.1	157	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCACTGG	NONE	byFrequency	.	Prints_domain:PR02074,hmmpanther:PTHR31883:SF2,hmmpanther:PTHR31883	.	.	ENSP00000401310	.	1/4	.	.	.	.	.	.	.	.	rs756230246	1/4	PASS	ENST00000425520	Transcript	.	.	ENSG00000225899	33518	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	FRG2B_HUMAN	FRG2B	HGNC	.	.	UPI00000727C6	SNV	FRG2B,missense_variant,p.Glu53Lys,ENST00000425520,;FRG2B,missense_variant,p.Glu53Lys,ENST00000443774,;	210	199	204	SUCCESS
PTPLA	0	.	GRCh37	10	17645602	17645602	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	93	173	0	ENST00000361271.3:c.440C>T	p.Ser147Leu	p.S147L	ENST00000361271	NM_014241.3	147	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS7121.1	440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGAACTC	NONE	.	.	hmmpanther:PTHR11035:SF22,hmmpanther:PTHR11035,Pfam_domain:PF04387	.	.	ENSP00000355308	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000361271	Transcript	1	.	ENSG00000165996	9639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.151)	.	deleterious(0.03)	.	HACD1_HUMAN	PTPLA	HGNC	J3KT94_HUMAN	.	UPI000036666A	SNV	PTPLA,missense_variant,p.Ser113Leu,ENST00000466335,;PTPLA,missense_variant,p.Ser147Leu,ENST00000361271,;PTPLA,missense_variant,p.Ser22Leu,ENST00000498812,;PTPLA,non_coding_transcript_exon_variant,,ENST00000471481,;	478	173	290	SUCCESS
MYO3A	53904	.	GRCh37	10	26446396	26446396	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767330393	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	15	78	0	ENST00000265944.5:c.2951G>A	p.Arg984Gln	p.R984Q	ENST00000265944	NM_017433.4	984	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS7148.1	2951	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCGAAGAC	CODON|p.R984*|c.2950C>T|5	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	26/35	.	.	.	.	.	.	.	.	rs767330393,COSM917291	26/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Arg984Gln,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	3117	79	120	SUCCESS
CDH23	64072	.	GRCh37	10	73560411	73560411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	50	0	ENST00000224721.6:c.7396T>C	p.Ser2466Pro	p.S2466P	ENST00000224721	NM_022124.5	2466	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS53540.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTCTTCT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000381768	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000398788	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	deleterious(0.02)	.	CAD23_HUMAN	CDH23	HGNC	.	.	UPI0000496839	SNV	CDH23,missense_variant,p.Ser221Pro,ENST00000398788,;CDH23,missense_variant,p.Ser2466Pro,ENST00000224721,;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	978	50	73	SUCCESS
MMRN2	79812	.	GRCh37	10	88717338	88717338	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs749291808	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	38	0	ENST00000372027.5:c.-40G>A		p.*14*	ENST00000372027	NM_024756.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7379.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGCAAGTA	NONE	.	.	.	.	.	ENSP00000361097	.	1/7	.	.	.	.	.	.	.	.	rs749291808	1/7	PASS	ENST00000372027	Transcript	.	.	ENSG00000173269	19888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMRN2_HUMAN	MMRN2	HGNC	R4GMY6_HUMAN	.	UPI000013F046	SNV	MMRN2,5_prime_UTR_variant,,ENST00000372027,;MMRN2,intron_variant,,ENST00000474994,;MMRN2,intron_variant,,ENST00000609457,;SNCG,upstream_gene_variant,,ENST00000372017,;MMRN2,upstream_gene_variant,,ENST00000610081,;SNCG,upstream_gene_variant,,ENST00000348795,;SNCG,upstream_gene_variant,,ENST00000465679,;SNCG,upstream_gene_variant,,ENST00000483064,;MMRN2,non_coding_transcript_exon_variant,,ENST00000608753,;MMRN2,upstream_gene_variant,,ENST00000608090,;	283	38	48	SUCCESS
SLIT1	6585	.	GRCh37	10	98762647	98762647	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	111	0	ENST00000266058.4:c.3968T>A	p.Leu1323Gln	p.L1323Q	ENST00000266058	NM_003061.2	1323	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS7453.1	3968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGCTCG	NONE	.	.	PROSITE_profiles:PS50025,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000266058	.	35/37	.	.	.	.	.	.	.	.	.	35/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.13)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Leu1323Gln,ENST00000371070,;SLIT1,missense_variant,p.Leu1323Gln,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;SLIT1,upstream_gene_variant,,ENST00000494968,;	4214	111	123	SUCCESS
KIAA1377	0	.	GRCh37	11	101863554	101863554	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	246	103	254	0	ENST00000263468.8:c.3290T>A	p.Leu1097Ter	p.L1097*	ENST00000263468	NM_020802.2	1097	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS31658.1	3290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTTACAAA	NONE	.	.	hmmpanther:PTHR31191	.	.	ENSP00000263468	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,stop_gained,p.Leu898Ter,ENST00000537689,;KIAA1377,stop_gained,p.Leu1097Ter,ENST00000263468,;KIAA1377,stop_gained,p.Leu61Ter,ENST00000532077,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	3560	254	350	SUCCESS
KMT2A	4297	.	GRCh37	11	118347552	118347552	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	7	78	0	ENST00000534358.1:c.3189G>A	p.Val1063=	p.V1063=	ENST00000534358	NM_005933.3	1063	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55791.1	3189	MUTECT|MUSE	.	TCTGTGCGAGG	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,synonymous_variant,p.%3D,ENST00000389506,;KMT2A,synonymous_variant,p.%3D,ENST00000533790,;KMT2A,synonymous_variant,p.%3D,ENST00000354520,;KMT2A,synonymous_variant,p.%3D,ENST00000534358,;KMT2A,synonymous_variant,p.%3D,ENST00000531904,;KMT2A,downstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000392873,;	3212	78	143	SUCCESS
MUC5B	727897	.	GRCh37	11	1258280	1258280	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	72	0	ENST00000529681.1:c.3183C>T	p.Cys1061=	p.C1061=	ENST00000529681	NM_002458.2	1061	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS44515.2	3183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCCGGA	BUFFER|p.P1065P|c.3195G>A|6,BUFFER|p.P1062P|c.3186G>A|6,BUFFER|p.D1066D|c.3198C>T|7,BUFFER|p.D1063D|c.3189C>T|7	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	25/49	.	.	.	.	.	.	.	.	.	25/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	3241	72	83	SUCCESS
LUZP2	338645	.	GRCh37	11	24518741	24518741	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs747101081	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	94	0	ENST00000336930.6:c.-49G>T		p.*17*	ENST00000336930				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31446.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAAGAGAGA	NONE	byFrequency	.	.	.	.	ENSP00000336817	.	1/12	.	.	.	.	.	.	.	.	rs747101081	1/12	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,5_prime_UTR_variant,,ENST00000529015,;LUZP2,5_prime_UTR_variant,,ENST00000336930,;LUZP2,upstream_gene_variant,,ENST00000533227,;LUZP2,non_coding_transcript_exon_variant,,ENST00000531187,;LUZP2,non_coding_transcript_exon_variant,,ENST00000449567,;LUZP2,non_coding_transcript_exon_variant,,ENST00000405855,;	18	94	110	SUCCESS
TTC17	55761	.	GRCh37	11	43421488	43421488	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	349	26	262	0	ENST00000039989.4:c.1109A>T	p.Asp370Val	p.D370V	ENST00000039989	NM_018259.5	370	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31466.1	1109	MUTECT|MUSE	.	GCATGACCACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16091	.	.	ENSP00000039989	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000039989	Transcript	.	.	ENSG00000052841	25596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	TTC17_HUMAN	TTC17	HGNC	.	.	UPI000006E6C7	SNV	TTC17,missense_variant,p.Asp370Val,ENST00000039989,;TTC17,missense_variant,p.Asp370Val,ENST00000299240,;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;RP11-484D2.4,downstream_gene_variant,,ENST00000394183,;TTC17,missense_variant,p.Asp45Val,ENST00000525029,;TTC17,upstream_gene_variant,,ENST00000530483,;TTC17,downstream_gene_variant,,ENST00000524936,;	1123	262	375	SUCCESS
SF3B2	10992	.	GRCh37	11	65819845	65819845	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs769948864	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	11	90	0	ENST00000322535.6:c.-11C>G		p.*4*	ENST00000322535	NM_006842.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31612.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCTGCGG	NONE	byFrequency	.	.	.	.	ENSP00000318861	.	1/22	.	.	.	.	.	.	.	.	rs769948864	1/22	PASS	ENST00000322535	Transcript	.	.	ENSG00000087365	10769	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SF3B2_HUMAN	SF3B2	HGNC	E9PIL8_HUMAN	.	UPI00001C1F20	SNV	SF3B2,5_prime_UTR_variant,,ENST00000528302,;SF3B2,5_prime_UTR_variant,,ENST00000322535,;SF3B2,5_prime_UTR_variant,,ENST00000524627,;SF3B2,5_prime_UTR_variant,,ENST00000533595,;SF3B2,upstream_gene_variant,,ENST00000524475,;SF3B2,upstream_gene_variant,,ENST00000530322,;GAL3ST3,upstream_gene_variant,,ENST00000312006,;snoU13,upstream_gene_variant,,ENST00000459530,;SF3B2,non_coding_transcript_exon_variant,,ENST00000534307,;SF3B2,upstream_gene_variant,,ENST00000533421,;SF3B2,downstream_gene_variant,,ENST00000529577,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531041,;GAL3ST3,upstream_gene_variant,,ENST00000527048,;SF3B2,upstream_gene_variant,,ENST00000525207,;SF3B2,upstream_gene_variant,,ENST00000526653,;SF3B2,upstream_gene_variant,,ENST00000531589,;	39	90	110	SUCCESS
DNHD1	144132	.	GRCh37	11	6588692	6588692	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	47	0	ENST00000254579.6:c.11953A>G	p.Lys3985Glu	p.K3985E	ENST00000254579	NM_144666.2	3985	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS44532.1	11953	MUTECT|MUSE	.	GGCCAAAAGCC	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000254579	.	36/43	.	.	.	.	.	.	.	.	.	36/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.Lys3985Glu,ENST00000254579,;DNHD1,missense_variant,p.Lys3985Glu,ENST00000527990,;DNHD1,downstream_gene_variant,,ENST00000525080,;DNHD1,upstream_gene_variant,,ENST00000527143,;DNHD1,non_coding_transcript_exon_variant,,ENST00000532467,;DNHD1,non_coding_transcript_exon_variant,,ENST00000529821,;DNHD1,non_coding_transcript_exon_variant,,ENST00000525883,;DNHD1,non_coding_transcript_exon_variant,,ENST00000530197,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533635,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,downstream_gene_variant,,ENST00000526027,;DNHD1,downstream_gene_variant,,ENST00000524401,;DNHD1,downstream_gene_variant,,ENST00000531903,;	12517	47	81	SUCCESS
SERPINH1	871	.	GRCh37	11	75280184	75280184	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	9	61	0	ENST00000358171.3:c.922A>G	p.Lys308Glu	p.K308E	ENST00000358171	NM_001235.3	308	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS8239.1	922	MUTECT|MUSE|VARSCANS	.	TGCCCAAGGGT	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF27	.	.	ENSP00000434412	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000524558	Transcript	.	.	ENSG00000149257	1546	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SERPH_HUMAN	SERPINH1	HGNC	Q9NPA9_HUMAN,E9PRS3_HUMAN,E9PR70_HUMAN,E9PNX1_HUMAN,E9PMI5_HUMAN,E9PKH2_HUMAN,E9PK86_HUMAN,E9PJH8_HUMAN,E9PIG2_HUMAN,B4DN87_HUMAN	.	UPI00001271B6	SNV	SERPINH1,missense_variant,p.Lys308Glu,ENST00000530284,;SERPINH1,missense_variant,p.Lys91Glu,ENST00000525876,;SERPINH1,missense_variant,p.Lys308Glu,ENST00000524558,;SERPINH1,missense_variant,p.Lys308Glu,ENST00000533603,;SERPINH1,missense_variant,p.Lys308Glu,ENST00000358171,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000533449,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000528990,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,downstream_gene_variant,,ENST00000526242,;SERPINH1,downstream_gene_variant,,ENST00000529643,;SERPINH1,upstream_gene_variant,,ENST00000526638,;	2357	61	106	SUCCESS
IPO7	10527	.	GRCh37	11	9446761	9446761	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	93	0	ENST00000379719.3:c.1287A>C	p.Lys429Asn	p.K429N	ENST00000379719	NM_006391.2	429	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS31425.1	1287	MUTECT|MUSE	.	AAAAAAGATGG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF08506,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	SNV	IPO7,missense_variant,p.Lys429Asn,ENST00000379719,;SNORA23,upstream_gene_variant,,ENST00000365128,;IPO7,non_coding_transcript_exon_variant,,ENST00000530037,;IPO7,downstream_gene_variant,,ENST00000531235,;	1429	93	96	SUCCESS
ANKRD13A	88455	.	GRCh37	12	110437503	110437503	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	77	0	ENST00000261739.4:c.10G>A	p.Ala4Thr	p.A4T	ENST00000261739	NM_033121.1	4	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS9140.1	10	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGGCCTGC	NONE	.	.	hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4	.	.	ENSP00000261739	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000261739	Transcript	.	.	ENSG00000076513	21268	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.33)	.	AN13A_HUMAN	ANKRD13A	HGNC	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN	.	UPI000004472C	SNV	ANKRD13A,missense_variant,p.Ala4Thr,ENST00000261739,;GIT2,upstream_gene_variant,,ENST00000361006,;GIT2,upstream_gene_variant,,ENST00000356259,;GIT2,upstream_gene_variant,,ENST00000338373,;GIT2,upstream_gene_variant,,ENST00000457474,;GIT2,upstream_gene_variant,,ENST00000355312,;GIT2,upstream_gene_variant,,ENST00000551209,;GIT2,upstream_gene_variant,,ENST00000550186,;GIT2,upstream_gene_variant,,ENST00000553118,;GIT2,upstream_gene_variant,,ENST00000343646,;GIT2,upstream_gene_variant,,ENST00000320063,;GIT2,upstream_gene_variant,,ENST00000354574,;GIT2,upstream_gene_variant,,ENST00000547815,;GIT2,upstream_gene_variant,,ENST00000360185,;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000550404,;ANKRD13A,intron_variant,,ENST00000553025,;GIT2,upstream_gene_variant,,ENST00000548643,;GIT2,upstream_gene_variant,,ENST00000551455,;	176	77	97	SUCCESS
HCAR1	27198	.	GRCh37	12	123214615	123214615	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	59	0	ENST00000432564.1:c.272G>A	p.Gly91Glu	p.G91E	ENST00000432564	NM_032554.3	91	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9236.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCCCACT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF29,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000389255	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000432564	Transcript	.	.	ENSG00000196917	4532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.08)	.	HCAR1_HUMAN	HCAR1	HGNC	.	.	UPI000003BC7A	SNV	HCAR1,missense_variant,p.Gly91Glu,ENST00000432564,;HCAR1,missense_variant,p.Gly91Glu,ENST00000356987,;HCAR1,missense_variant,p.Gly91Glu,ENST00000436083,;RP11-324E6.9,upstream_gene_variant,,ENST00000602891,;	515	59	84	SUCCESS
POLE	5426	.	GRCh37	12	133219918	133219918	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	rs766538692	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	23	0	ENST00000320574.5:c.4445-2A>C		p.X1482_splice	ENST00000320574	NM_006231.2	1482		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9278.1	.	MUTECT|MUSE|VARSCANS	.	CTCCCTGGAGA	NONE	.	.	.	.	.	ENSP00000322570	.	.	.	.	.	.	.	.	.	.	rs766538692	.	PASS	ENST00000320574	Transcript	.	.	ENSG00000177084	9177	.	.	HIGH	34/48	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPOE1_HUMAN	POLE	HGNC	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN	.	UPI00001FBF97	SNV	POLE,splice_acceptor_variant,,ENST00000320574,;POLE,splice_acceptor_variant,,ENST00000535270,;POLE,upstream_gene_variant,,ENST00000434528,;POLE,splice_acceptor_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000542362,;POLE,upstream_gene_variant,,ENST00000541213,;	.	23	72	SUCCESS
ARID2	196528	.	GRCh37	12	46244283	46244283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	80	0	ENST00000334344.6:c.2377C>A	p.Gln793Lys	p.Q793K	ENST00000334344	NM_152641.2	793	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31783.1	2377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCAACAA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0.01)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Gln793Lys,ENST00000334344,;ARID2,missense_variant,p.Gln403Lys,ENST00000444670,;ARID2,missense_variant,p.Gln644Lys,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	2549	80	90	SUCCESS
KCNA6	3742	.	GRCh37	12	4920420	4920420	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	23	95	0	ENST00000280684.3:c.1213C>T	p.Leu405Phe	p.L405F	ENST00000280684		405	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS8534.1	1213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCGCTTTTT	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	COSM3461439	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.438)	.	tolerated(0.56)	1	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,missense_variant,p.Leu405Phe,ENST00000433855,;KCNA6,missense_variant,p.Leu405Phe,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	2079	95	130	SUCCESS
KMT2D	8085	.	GRCh37	12	49427679	49427679	+	synonymous_variant	Silent	SNP	C	C	T	rs1555189181	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	34	0	ENST00000301067.7:c.10809G>A	p.Gln3603=	p.Q3603=	ENST00000301067	NM_003482.3	3603	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS44873.1	10809	MUTECT|MUSE	.	TGCTGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	COSM940018,COSM940017	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	10809	34	46	SUCCESS
ARHGAP9	64333	.	GRCh37	12	57871256	57871256	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	55	101	0	ENST00000393791.3:c.742A>T	p.Ser248Cys	p.S248C	ENST00000393791	NM_032496.2	248	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS8941.2	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGACTGCGGC	NONE	.	.	hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Gene3D:2.20.70.10	.	.	ENSP00000377380	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000393791	Transcript	.	.	ENSG00000123329	14130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.532)	.	deleterious(0.01)	.	RHG09_HUMAN	ARHGAP9	HGNC	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN	.	UPI000007131B	SNV	ARHGAP9,missense_variant,p.Ser64Cys,ENST00000552604,;ARHGAP9,missense_variant,p.Ser64Cys,ENST00000430041,;ARHGAP9,missense_variant,p.Ser101Cys,ENST00000551452,;ARHGAP9,missense_variant,p.Ser248Cys,ENST00000356411,;ARHGAP9,missense_variant,p.Ser248Cys,ENST00000393791,;ARHGAP9,missense_variant,p.Ser327Cys,ENST00000550288,;ARHGAP9,missense_variant,p.Ser64Cys,ENST00000548139,;ARHGAP9,missense_variant,p.Ser64Cys,ENST00000552066,;ARHGAP9,missense_variant,p.Ser319Cys,ENST00000393797,;ARHGAP9,missense_variant,p.Ser248Cys,ENST00000424809,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000552249,;ARHGAP9,downstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550454,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000551000,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000551574,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000547216,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000548148,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;	881	101	169	SUCCESS
MARS	0	.	GRCh37	12	57892224	57892224	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1394419863	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	34	65	0	ENST00000262027.5:c.909G>C	p.Trp303Cys	p.W303C	ENST00000262027	NM_004990.3	303	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS8942.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGAACAC	NONE	.	.	Prints_domain:PR01041,Superfamily_domains:SSF52374,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00398,Pfam_domain:PF09334,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69,HAMAP:MF_00098	.	.	ENSP00000262027	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,missense_variant,p.Trp69Cys,ENST00000315473,;MARS,missense_variant,p.Trp136Cys,ENST00000552371,;MARS,missense_variant,p.Trp303Cys,ENST00000262027,;MARS,upstream_gene_variant,,ENST00000548944,;MARS,non_coding_transcript_exon_variant,,ENST00000447721,;MARS,downstream_gene_variant,,ENST00000548674,;MARS,missense_variant,p.Trp303Cys,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,3_prime_UTR_variant,,ENST00000551892,;MARS,downstream_gene_variant,,ENST00000549074,;MARS,upstream_gene_variant,,ENST00000549827,;	1043	65	96	SUCCESS
PSPC1	55269	.	GRCh37	13	20346623	20346623	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	60	0	ENST00000338910.4:c.433A>C	p.Arg145=	p.R145=	ENST00000338910	NM_001042414.2	145	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS41870.1	433	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCTGCTCT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF14,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000343966	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000338910	Transcript	.	.	ENSG00000121390	20320	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSPC1_HUMAN	PSPC1	HGNC	.	.	UPI000006F2BE	SNV	PSPC1,synonymous_variant,p.%3D,ENST00000338910,;PSPC1,synonymous_variant,p.%3D,ENST00000427943,;PSPC1,synonymous_variant,p.%3D,ENST00000471658,;PSPC1,synonymous_variant,p.%3D,ENST00000492741,;	593	60	81	SUCCESS
ZMYM2	7750	.	GRCh37	13	20605572	20605572	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	36	94	0	ENST00000382871.2:c.1965G>A	p.Trp655Ter	p.W655*	ENST00000382871		655	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS45016.1	1965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGGGAGGC	NONE	.	.	hmmpanther:PTHR11697:SF73,hmmpanther:PTHR11697,Pfam_domain:PF06467,SMART_domains:SM00746	.	.	ENSP00000372322	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000382869	Transcript	.	.	ENSG00000121741	12989	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM2_HUMAN	ZMYM2	HGNC	.	.	UPI000013C318	SNV	ZMYM2,stop_gained,p.Trp137Ter,ENST00000382883,;ZMYM2,stop_gained,p.Trp655Ter,ENST00000382869,;ZMYM2,stop_gained,p.Trp655Ter,ENST00000382871,;ZMYM2,stop_gained,p.Trp655Ter,ENST00000382874,;ZMYM2,downstream_gene_variant,,ENST00000468677,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000382870,;	2216	94	119	SUCCESS
FAM194B	0	.	GRCh37	13	46161363	46161363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	67	0	ENST00000298738.2:c.691C>T	p.Pro231Ser	p.P231S	ENST00000298738	NM_182542.2	231	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS45045.1	691	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGACTCC	NONE	.	.	hmmpanther:PTHR23093:SF12,hmmpanther:PTHR23093	.	.	ENSP00000298738	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000298738	Transcript	.	.	ENSG00000165837	26523	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.61)	.	F194B_HUMAN	FAM194B	HGNC	.	.	UPI000013E513	SNV	FAM194B,missense_variant,p.Pro231Ser,ENST00000298738,;FAM194B,non_coding_transcript_exon_variant,,ENST00000378977,;	856	67	85	SUCCESS
RNASE9	390443	.	GRCh37	14	21026728	21026728	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	100	0	ENST00000338904.3:c.-14-1486G>A		p.*5*	ENST00000338904	NM_001001673.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53883.1	.	MUTECT|MUSE	.	CTCTTCAAAAG	NONE	.	.	.	.	.	ENSP00000384683	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000404716	Transcript	.	.	ENSG00000188655	20673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RNAS9_HUMAN	RNASE9	HGNC	.	.	UPI00015E3754	SNV	RNASE9,5_prime_UTR_variant,,ENST00000404716,;RNASE9,5_prime_UTR_variant,,ENST00000556208,;RNASE9,5_prime_UTR_variant,,ENST00000555230,;RNASE9,5_prime_UTR_variant,,ENST00000557068,;RNASE9,intron_variant,,ENST00000429244,;RNASE9,intron_variant,,ENST00000338904,;RNASE9,intron_variant,,ENST00000553706,;RNASE9,intron_variant,,ENST00000557209,;RNASE9,intron_variant,,ENST00000553541,;RNASE9,intron_variant,,ENST00000554964,;	227	100	113	SUCCESS
NID2	22795	.	GRCh37	14	52485928	52485928	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	48	0	ENST00000216286.5:c.2879T>A	p.Ile960Asn	p.I960N	ENST00000216286	NM_007361.3	960	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS9706.1	2879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGATGTGG	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF5,PROSITE_patterns:PS00484,Pfam_domain:PF00086,Gene3D:4.10.800.10,SMART_domains:SM00211,Superfamily_domains:SSF57610	.	.	ENSP00000216286	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Ile229Asn,ENST00000556572,;NID2,missense_variant,p.Ile859Asn,ENST00000541773,;NID2,missense_variant,p.Ile960Asn,ENST00000216286,;NID2,intron_variant,,ENST00000557051,;	2879	49	79	SUCCESS
HERC2	8924	.	GRCh37	15	28457604	28457604	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	41	149	0	ENST00000261609.7:c.6912A>G	p.Lys2304=	p.K2304=	ENST00000261609	NM_004667.5	2304	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS10021.1	6912	RADIA|MUTECT|MUSE	.	GCCTGTTTAGT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	43/93	.	.	.	.	.	.	.	.	.	43/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,synonymous_variant,p.%3D,ENST00000261609,;	7021	149	198	SUCCESS
SLC28A2	9153	.	GRCh37	15	45554224	45554224	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs751095898	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	62	0	ENST00000347644.3:c.182G>A	p.Trp61Ter	p.W61*	ENST00000347644	NM_004212.3	61	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS10121.1	182	MUTECT|MUSE	.	TCGGTGGCCTT	NONE	.	.	hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF11	.	.	ENSP00000315006	.	4/18	.	.	.	.	.	.	.	.	rs751095898	4/18	PASS	ENST00000347644	Transcript	.	.	ENSG00000137860	11002	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S28A2_HUMAN	SLC28A2	HGNC	.	.	UPI000013D0D5	SNV	SLC28A2,stop_gained,p.Trp49Ter,ENST00000560438,;SLC28A2,stop_gained,p.Trp61Ter,ENST00000347644,;CTD-2651B20.3,intron_variant,,ENST00000560344,;CTD-2651B20.3,intron_variant,,ENST00000561404,;SLC28A2,upstream_gene_variant,,ENST00000559924,;	247	62	96	SUCCESS
PML	5371	.	GRCh37	15	74324992	74324992	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	87	160	0	ENST00000268058.3:c.1334C>G	p.Ser445Ter	p.S445*	ENST00000268058	NM_033238.2	445	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS10255.1	1334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCAGTGC	NONE	.	.	Pfam_domain:PF12126	.	.	ENSP00000268058	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000268058	Transcript	1	.	ENSG00000140464	9113	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PML_HUMAN	PML	HGNC	Q9UE85_HUMAN,Q05835_HUMAN	.	UPI000013D78F	SNV	PML,stop_gained,p.Ser445Ter,ENST00000395135,;PML,stop_gained,p.Ser445Ter,ENST00000569477,;PML,stop_gained,p.Ser217Ter,ENST00000565239,;PML,stop_gained,p.Ser445Ter,ENST00000435786,;PML,stop_gained,p.Ser445Ter,ENST00000436891,;PML,stop_gained,p.Ser89Ter,ENST00000566068,;PML,stop_gained,p.Ser445Ter,ENST00000569965,;PML,stop_gained,p.Ser445Ter,ENST00000268059,;PML,stop_gained,p.Ser445Ter,ENST00000268058,;PML,intron_variant,,ENST00000563500,;PML,intron_variant,,ENST00000565898,;PML,intron_variant,,ENST00000359928,;PML,intron_variant,,ENST00000564428,;PML,intron_variant,,ENST00000567543,;PML,intron_variant,,ENST00000562086,;PML,intron_variant,,ENST00000567606,;PML,intron_variant,,ENST00000354026,;PML,intron_variant,,ENST00000395132,;PML,non_coding_transcript_exon_variant,,ENST00000569161,;PML,non_coding_transcript_exon_variant,,ENST00000570213,;PML,downstream_gene_variant,,ENST00000564725,;	1430	160	230	SUCCESS
CCDC33	80125	.	GRCh37	15	74588203	74588203	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1399893506	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	13	92	0	ENST00000398814.3:c.1204A>G	p.Thr402Ala	p.T402A	ENST00000398814	NM_025055.4	402	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS42058.1	1204	MUTECT|MUSE|VARSCANS	.	AGGACACAGTG	NONE	.	.	hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF2	.	.	ENSP00000381795	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000398814	Transcript	.	.	ENSG00000140481	26552	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.801)	.	tolerated(0.37)	.	CCD33_HUMAN	CCDC33	HGNC	.	.	UPI0000E671FE	SNV	CCDC33,missense_variant,p.Thr605Ala,ENST00000321288,;CCDC33,missense_variant,p.Thr283Ala,ENST00000558659,;CCDC33,missense_variant,p.Thr402Ala,ENST00000398814,;CCDC33,non_coding_transcript_exon_variant,,ENST00000563951,;	1635	92	139	SUCCESS
AGBL1	123624	.	GRCh37	15	86791026	86791026	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	55	0	ENST00000441037.2:c.513C>T	p.Cys171=	p.C171=	ENST00000441037	NM_152336.2	171	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS58398.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCCTCAG	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000413001	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;	608	55	66	SUCCESS
ACAN	176	.	GRCh37	15	89402510	89402510	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	69	0	ENST00000439576.2:c.6694A>G	p.Thr2232Ala	p.T2232A	ENST00000439576	NM_013227.3	2232	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS53970.1	6694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGACGCAT	NONE	.	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	.	.	ENSP00000387356	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(1)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Thr69Ala,ENST00000560601,;ACAN,missense_variant,p.Thr2232Ala,ENST00000559004,;ACAN,missense_variant,p.Thr2232Ala,ENST00000439576,;ACAN,missense_variant,p.Thr2232Ala,ENST00000561243,;ACAN,missense_variant,p.Thr2232Ala,ENST00000352105,;	7068	70	125	SUCCESS
THOC6	79228	.	GRCh37	16	3077415	3077415	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374499488	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	21	0	ENST00000326266.8:c.859G>A	p.Gly287Arg	p.G287R	ENST00000326266	NM_024339.3	287	Ggg/Agg	0	A:0.0002	.	.	.	.	A	G/R	protein_coding	YES	CCDS10491.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	A:0	ENSP00000326531	.	12/13	.	.	.	.	.	.	.	.	rs374499488	12/13	PASS	ENST00000326266	Transcript	.	.	ENSG00000131652	28369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	THOC6_HUMAN	THOC6	HGNC	.	.	UPI00000372D2	SNV	THOC6,missense_variant,p.Gly263Arg,ENST00000575576,;THOC6,missense_variant,p.Gly263Arg,ENST00000574549,;THOC6,missense_variant,p.Gly287Arg,ENST00000326266,;THOC6,intron_variant,,ENST00000253952,;HCFC1R1,upstream_gene_variant,,ENST00000354679,;HCFC1R1,upstream_gene_variant,,ENST00000396916,;CCDC64B,downstream_gene_variant,,ENST00000573514,;CCDC64B,downstream_gene_variant,,ENST00000572449,;HCFC1R1,upstream_gene_variant,,ENST00000573842,;HCFC1R1,upstream_gene_variant,,ENST00000248089,;HCFC1R1,upstream_gene_variant,,ENST00000574151,;HCFC1R1,upstream_gene_variant,,ENST00000572355,;HCFC1R1,upstream_gene_variant,,ENST00000574980,;CCDC64B,downstream_gene_variant,,ENST00000389347,;HCFC1R1,upstream_gene_variant,,ENST00000573095,;THOC6,downstream_gene_variant,,ENST00000574498,;CCDC64B,downstream_gene_variant,,ENST00000576826,;CCDC64B,downstream_gene_variant,,ENST00000572240,;THOC6,downstream_gene_variant,,ENST00000571046,;HCFC1R1,upstream_gene_variant,,ENST00000575214,;THOC6,downstream_gene_variant,,ENST00000571057,;HCFC1R1,upstream_gene_variant,,ENST00000576921,;THOC6,downstream_gene_variant,,ENST00000576143,;THOC6,downstream_gene_variant,,ENST00000574957,;THOC6,downstream_gene_variant,,ENST00000573704,;	1155	21	29	SUCCESS
AXIN1	8312	.	GRCh37	16	364583	364613	+	frameshift_variant	Frame_Shift_Del	DEL	ACAGGCTCTGCTGCTCGCTGTCGTTGGCACT	ACAGGCTCTGCTGCTCGCTGTCGTTGGCACT	-	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	ACAGGCTCTGCTGCTCGCTGTCGTTGGCACT	ACAGGCTCTGCTGCTCGCTGTCGTTGGCACT	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	51	0	ENST00000262320.3:c.949_979del	p.Ser317ProfsTer87	p.S317Pfs*87	ENST00000262320	NM_003502.3	317	AGTGCCAACGACAGCGAGCAGCAGAGCCTGTcc/cc	0	.	.	.	.	.	-	SANDSEQQSLS/X	protein_coding	YES	CCDS10405.1	949-979	VARSCANI*|PINDEL	.	CGCTGGACAGGCTCTGCTGCTCGCTGTCGTTGGCACTGGTGG	BUFFER|p.D331fs*83|c.991_991delG|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	deletion	AXIN1,frameshift_variant,p.Ser317ProfsTer87,ENST00000262320,;AXIN1,frameshift_variant,p.Ser317ProfsTer87,ENST00000354866,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1321-1351	51	34	SUCCESS
CDH1	999	.	GRCh37	16	68849586	68849586	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	54	125	0	ENST00000261769.5:c.1489G>T	p.Glu497Ter	p.E497*	ENST00000261769	NM_004360.3	497	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10869.1	1489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGAGGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000261769	.	10/16	.	.	.	.	.	.	.	.	COSM1247778	10/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,stop_gained,p.Glu436Ter,ENST00000422392,;CDH1,stop_gained,p.Glu497Ter,ENST00000261769,;RP11-354M1.2,intron_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,stop_gained,p.Glu497Ter,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,downstream_gene_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000565810,;	1680	125	98	SUCCESS
DNAH9	1770	.	GRCh37	17	11778277	11778277	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	41	0	ENST00000262442.4:c.10254A>T	p.Pro3418=	p.P3418=	ENST00000262442	NM_001372.3	3418	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11160.1	10254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCAGTCAC	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676	.	.	ENSP00000262442	.	53/69	.	.	.	.	.	.	.	.	.	53/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000579703,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;RP11-628O18.1,non_coding_transcript_exon_variant,,ENST00000579621,;DNAH9,non_coding_transcript_exon_variant,,ENST00000580255,;	10322	41	74	SUCCESS
RAP1GAP2	23108	.	GRCh37	17	2868924	2868924	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772633231	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	28	0	ENST00000254695.8:c.583C>T	p.Arg195Trp	p.R195W	ENST00000254695	NM_015085.4	195	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS45573.1	583	MUTECT|MUSE|VARSCANS	.	ACCTCCGGGTC	NONE	.	.	hmmpanther:PTHR15711:SF17,hmmpanther:PTHR15711,Superfamily_domains:0043732	.	.	ENSP00000254695	.	8/25	.	.	.	.	.	.	.	.	rs772633231	8/25	PASS	ENST00000254695	Transcript	.	.	ENSG00000132359	29176	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	RPGP2_HUMAN	RAP1GAP2	HGNC	.	.	UPI0000D622A3	SNV	RAP1GAP2,missense_variant,p.Arg176Trp,ENST00000540393,;RAP1GAP2,missense_variant,p.Arg180Trp,ENST00000366401,;RAP1GAP2,missense_variant,p.Arg195Trp,ENST00000542807,;RAP1GAP2,missense_variant,p.Arg195Trp,ENST00000254695,;CTD-3060P21.1,non_coding_transcript_exon_variant,,ENST00000574885,;	673	28	49	SUCCESS
CACNA1G	8913	.	GRCh37	17	48667882	48667882	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	42	0	ENST00000359106.5:c.2352C>T	p.Ser784=	p.S784=	ENST00000359106	NM_018896.4	784	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45730.1	2352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCTCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	10/38	.	.	.	.	.	.	.	.	.	10/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,synonymous_variant,p.%3D,ENST00000502264,;CACNA1G,synonymous_variant,p.%3D,ENST00000416767,;CACNA1G,synonymous_variant,p.%3D,ENST00000358244,;CACNA1G,synonymous_variant,p.%3D,ENST00000515165,;CACNA1G,synonymous_variant,p.%3D,ENST00000514181,;CACNA1G,synonymous_variant,p.%3D,ENST00000352832,;CACNA1G,synonymous_variant,p.%3D,ENST00000360761,;CACNA1G,synonymous_variant,p.%3D,ENST00000507336,;CACNA1G,synonymous_variant,p.%3D,ENST00000354983,;CACNA1G,synonymous_variant,p.%3D,ENST00000513689,;CACNA1G,synonymous_variant,p.%3D,ENST00000507510,;CACNA1G,synonymous_variant,p.%3D,ENST00000505165,;CACNA1G,synonymous_variant,p.%3D,ENST00000514717,;CACNA1G,synonymous_variant,p.%3D,ENST00000510366,;CACNA1G,synonymous_variant,p.%3D,ENST00000429973,;CACNA1G,synonymous_variant,p.%3D,ENST00000510115,;CACNA1G,synonymous_variant,p.%3D,ENST00000442258,;CACNA1G,synonymous_variant,p.%3D,ENST00000512389,;CACNA1G,synonymous_variant,p.%3D,ENST00000514079,;CACNA1G,synonymous_variant,p.%3D,ENST00000507896,;CACNA1G,synonymous_variant,p.%3D,ENST00000515411,;CACNA1G,synonymous_variant,p.%3D,ENST00000513964,;CACNA1G,synonymous_variant,p.%3D,ENST00000359106,;CACNA1G,synonymous_variant,p.%3D,ENST00000507609,;CACNA1G,synonymous_variant,p.%3D,ENST00000503485,;CACNA1G,synonymous_variant,p.%3D,ENST00000515765,;CACNA1G,synonymous_variant,p.%3D,ENST00000511768,;CACNA1G,synonymous_variant,p.%3D,ENST00000503436,;CACNA1G,synonymous_variant,p.%3D,ENST00000503607,;CACNA1G,synonymous_variant,p.%3D,ENST00000506406,;CACNA1G,synonymous_variant,p.%3D,ENST00000504076,;CACNA1G,synonymous_variant,p.%3D,ENST00000511765,;	2352	42	57	SUCCESS
EPX	8288	.	GRCh37	17	56281642	56281642	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	29	55	0	ENST00000225371.5:c.2006T>C	p.Ile669Thr	p.I669T	ENST00000225371	NM_000502.4	669	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS11602.1	2006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATTTCCT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000225371	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000225371	Transcript	.	.	ENSG00000121053	3423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	tolerated(0.16)	.	PERE_HUMAN	EPX	HGNC	.	.	UPI0000131629	SNV	EPX,missense_variant,p.Ile669Thr,ENST00000225371,;MKS1,downstream_gene_variant,,ENST00000537529,;MKS1,downstream_gene_variant,,ENST00000337050,;MKS1,downstream_gene_variant,,ENST00000393119,;MKS1,downstream_gene_variant,,ENST00000577315,;MKS1,downstream_gene_variant,,ENST00000313863,;MKS1,downstream_gene_variant,,ENST00000546108,;MKS1,downstream_gene_variant,,ENST00000585134,;MKS1,downstream_gene_variant,,ENST00000577824,;MKS1,downstream_gene_variant,,ENST00000579358,;MKS1,downstream_gene_variant,,ENST00000393120,;MKS1,downstream_gene_variant,,ENST00000583577,;	2116	55	92	SUCCESS
MRC2	9902	.	GRCh37	17	60766907	60766907	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	6	64	0	ENST00000303375.5:c.3359C>G	p.Ala1120Gly	p.A1120G	ENST00000303375	NM_006039.4	1120	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS11634.1	3359	MUTECT|MUSE	.	CCCAGCAGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803	.	.	ENSP00000307513	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.04)	.	tolerated(0.17)	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,missense_variant,p.Ala1120Gly,ENST00000303375,;MRC2,intron_variant,,ENST00000446119,;MRC2,intron_variant,,ENST00000580916,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;	3761	64	99	SUCCESS
AIPL1	23746	.	GRCh37	17	6331740	6331740	+	synonymous_variant	Silent	SNP	G	G	A	rs765121760	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	24	0	ENST00000381129.3:c.363C>T	p.Cys121=	p.C121=	ENST00000381129	NM_014336.3	121	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS11075.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGCACGT	NONE	byFrequency	.	hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2	.	.	ENSP00000370521	.	3/6	.	.	.	.	.	.	.	.	rs765121760	3/6	PASS	ENST00000381129	Transcript	.	.	ENSG00000129221	359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIPL1_HUMAN	AIPL1	HGNC	F1T0C0_HUMAN,F1T0B6_HUMAN	.	UPI0000125741	SNV	AIPL1,synonymous_variant,p.%3D,ENST00000574506,;AIPL1,synonymous_variant,p.%3D,ENST00000381129,;AIPL1,synonymous_variant,p.%3D,ENST00000576776,;AIPL1,synonymous_variant,p.%3D,ENST00000574913,;AIPL1,synonymous_variant,p.%3D,ENST00000570466,;AIPL1,synonymous_variant,p.%3D,ENST00000576307,;AIPL1,synonymous_variant,p.%3D,ENST00000571740,;AIPL1,synonymous_variant,p.%3D,ENST00000575265,;AIPL1,intron_variant,,ENST00000570584,;AIPL1,intron_variant,,ENST00000250087,;AIPL1,3_prime_UTR_variant,,ENST00000381128,;	444	24	32	SUCCESS
SLC16A5	9121	.	GRCh37	17	73096231	73096231	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	50	1	ENST00000329783.4:c.473T>C	p.Leu158Pro	p.L158P	ENST00000329783	NM_004695.3	158	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS11713.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTCTCCC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF21,hmmpanther:PTHR11360,TIGRFAM_domain:TIGR00892,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000390564	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000450736	Transcript	.	.	ENSG00000170190	10926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MOT6_HUMAN	SLC16A5	HGNC	J3QQW5_HUMAN,J3QL40_HUMAN,J3KT93_HUMAN	.	UPI0000000DC7	SNV	SLC16A5,missense_variant,p.Leu158Pro,ENST00000584118,;SLC16A5,missense_variant,p.Leu158Pro,ENST00000329783,;SLC16A5,missense_variant,p.Leu158Pro,ENST00000450736,;SLC16A5,missense_variant,p.Leu158Pro,ENST00000580123,;SLC16A5,missense_variant,p.Leu158Pro,ENST00000578376,;SLC16A5,missense_variant,p.Leu198Pro,ENST00000538213,;SLC16A5,missense_variant,p.Leu188Pro,ENST00000584207,;SLC16A5,downstream_gene_variant,,ENST00000585293,;SLC16A5,downstream_gene_variant,,ENST00000582048,;	888	52	56	SUCCESS
FASN	2194	.	GRCh37	17	80042151	80042151	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	13	113	0	ENST00000306749.2:c.4878C>A	p.Val1626=	p.V1626=	ENST00000306749	NM_004104.4	1626	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11801.1	4878	MUTECT|MUSE|VARSCANS	.	AGCAGGACAGA	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000304592	.	28/43	.	.	.	.	.	.	.	.	.	28/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5097	113	158	SUCCESS
PFAS	5198	.	GRCh37	17	8172487	8172487	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	68	0	ENST00000314666.6:c.3922G>C	p.Ala1308Pro	p.A1308P	ENST00000314666	NM_012393.2	1308	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS11136.1	3922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGCATGG	NONE	.	.	Superfamily_domains:SSF52317,TIGRFAM_domain:TIGR01735,Pfam_domain:PF13507,hmmpanther:PTHR10099:SF1,hmmpanther:PTHR10099,PROSITE_profiles:PS51273	.	.	ENSP00000313490	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000314666	Transcript	.	.	ENSG00000178921	8863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	PUR4_HUMAN	PFAS	HGNC	Q9BR56_HUMAN,Q6P4B4_HUMAN,J3QSH6_HUMAN,J3QL39_HUMAN,J3KTL4_HUMAN,F5GWT9_HUMAN	.	UPI00001A95E5	SNV	PFAS,missense_variant,p.Ala1308Pro,ENST00000314666,;PFAS,missense_variant,p.Ala884Pro,ENST00000545834,;PFAS,3_prime_UTR_variant,,ENST00000546020,;PFAS,downstream_gene_variant,,ENST00000583059,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,downstream_gene_variant,,ENST00000578979,;PFAS,downstream_gene_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,;	4055	68	72	SUCCESS
NEDD4L	23327	.	GRCh37	18	56034978	56034978	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1242344932	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	89	0	ENST00000400345.3:c.2064G>A		p.X688_splice	ENST00000400345	NM_001144967.2	688	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS45872.1	2064	MUTECT|MUSE|VARSCANS	.	AAAAGGGACAA	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000383199	.	22/31	.	.	.	.	.	.	.	.	.	22/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,synonymous_variant,p.%3D,ENST00000456173,;NEDD4L,synonymous_variant,p.%3D,ENST00000256832,;NEDD4L,synonymous_variant,p.%3D,ENST00000586263,;NEDD4L,synonymous_variant,p.%3D,ENST00000357895,;NEDD4L,synonymous_variant,p.%3D,ENST00000400345,;NEDD4L,synonymous_variant,p.%3D,ENST00000431212,;NEDD4L,synonymous_variant,p.%3D,ENST00000435432,;NEDD4L,synonymous_variant,p.%3D,ENST00000456986,;NEDD4L,synonymous_variant,p.%3D,ENST00000356462,;NEDD4L,synonymous_variant,p.%3D,ENST00000587881,;NEDD4L,synonymous_variant,p.%3D,ENST00000256830,;NEDD4L,synonymous_variant,p.%3D,ENST00000382850,;NEDD4L,intron_variant,,ENST00000589054,;RP11-845C23.2,upstream_gene_variant,,ENST00000587933,;NEDD4L,splice_region_variant,,ENST00000587246,;NEDD4L,downstream_gene_variant,,ENST00000585970,;NEDD4L,downstream_gene_variant,,ENST00000590638,;	2347	89	102	SUCCESS
RASAL3	64926	.	GRCh37	19	15565556	15565556	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1231462978	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	9	119	0	ENST00000343625.7:c.1870G>A	p.Gly624Ser	p.G624S	ENST00000343625	NM_022904.1	624	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS46006.1	1870	MUTECT|MUSE	.	CAAACCAAAGA	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR10194:SF82,hmmpanther:PTHR10194,Gene3D:1.10.506.10,Pfam_domain:PF00616,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000341905	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000343625	Transcript	.	.	ENSG00000105122	26129	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	RASL3_HUMAN	RASAL3	HGNC	.	.	UPI0000197831	SNV	RASAL3,missense_variant,p.Gly132Ser,ENST00000599694,;RASAL3,missense_variant,p.Gly624Ser,ENST00000343625,;WIZ,upstream_gene_variant,,ENST00000263381,;WIZ,upstream_gene_variant,,ENST00000389282,;RASAL3,upstream_gene_variant,,ENST00000609274,;RASAL3,downstream_gene_variant,,ENST00000608577,;RASAL3,downstream_gene_variant,,ENST00000595098,;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;RASAL3,downstream_gene_variant,,ENST00000597025,;	1956	119	152	SUCCESS
MAP1S	55201	.	GRCh37	19	17830385	17830385	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	51	105	0	ENST00000324096.4:c.74G>A	p.Gly25Glu	p.G25E	ENST00000324096	NM_018174.4	25	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS32954.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCGGGAGCC	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	tolerated(0.27)	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,missense_variant,p.Gly25Glu,ENST00000597735,;MAP1S,missense_variant,p.Gly25Glu,ENST00000600186,;MAP1S,missense_variant,p.Gly25Glu,ENST00000324096,;MAP1S,intron_variant,,ENST00000594625,;MAP1S,upstream_gene_variant,,ENST00000544059,;MAP1S,non_coding_transcript_exon_variant,,ENST00000601544,;MAP1S,non_coding_transcript_exon_variant,,ENST00000597681,;MAP1S,upstream_gene_variant,,ENST00000594340,;MAP1S,upstream_gene_variant,,ENST00000599494,;MAP1S,upstream_gene_variant,,ENST00000595338,;MAP1S,upstream_gene_variant,,ENST00000597067,;MAP1S,upstream_gene_variant,,ENST00000598916,;MAP1S,missense_variant,p.Gly25Glu,ENST00000594212,;MAP1S,missense_variant,p.Gly25Glu,ENST00000600608,;MAP1S,upstream_gene_variant,,ENST00000596637,;MAP1S,upstream_gene_variant,,ENST00000593593,;MAP1S,upstream_gene_variant,,ENST00000594365,;MAP1S,upstream_gene_variant,,ENST00000598769,;	225	105	146	SUCCESS
ZNF681	148213	.	GRCh37	19	23941653	23941653	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	18	0	ENST00000402377.3:c.-102G>T		p.*34*	ENST00000402377	NM_138286.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12414.2	.	MUTECT|MUSE	.	CAGAGCAGTGA	NONE	.	.	.	.	.	ENSP00000384000	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,5_prime_UTR_variant,,ENST00000402377,;RPSAP58,upstream_gene_variant,,ENST00000486528,;ZNF681,upstream_gene_variant,,ENST00000395385,;ZNF681,upstream_gene_variant,,ENST00000528059,;ZNF681,upstream_gene_variant,,ENST00000531570,;RPSAP58,upstream_gene_variant,,ENST00000496398,;RP11-255H23.2,upstream_gene_variant,,ENST00000475499,;RP11-255H23.2,upstream_gene_variant,,ENST00000471224,;	41	18	21	SUCCESS
ZNF781	163115	.	GRCh37	19	38160112	38160112	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775732466	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	44	0	ENST00000358582.4:c.938T>C	p.Met313Thr	p.M313T	ENST00000358582	NM_152605.3	313	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS12507.1	938	MUTECT|MUSE|VARSCANS	.	CATTCATAAGG	NONE	.	.	hmmpanther:PTHR24409:SF13,hmmpanther:PTHR24409	.	.	ENSP00000351391	.	4/4	.	.	.	.	.	.	.	.	rs775732466	4/4	PASS	ENST00000358582	Transcript	.	.	ENSG00000196381	26745	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.042)	.	tolerated(0.38)	.	ZN781_HUMAN	ZNF781	HGNC	.	.	UPI0000351D6C	SNV	ZNF781,missense_variant,p.Met313Thr,ENST00000590008,;ZNF781,missense_variant,p.Met313Thr,ENST00000358582,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000589676,;ZFP30,intron_variant,,ENST00000586732,;ZNF781,downstream_gene_variant,,ENST00000593040,;	1687	44	77	SUCCESS
RYR1	6261	.	GRCh37	19	38991591	38991591	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	25	0	ENST00000359596.3:c.7575G>T	p.Gly2525=	p.G2525=	ENST00000359596		2525	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33011.1	7575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGTTCCT	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	47/106	.	.	.	.	.	.	.	.	.	47/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;RYR1,synonymous_variant,p.%3D,ENST00000594335,;	7575	26	47	SUCCESS
RYR1	6261	.	GRCh37	19	38993233	38993233	+	synonymous_variant	Silent	SNP	G	G	A	rs1420408214	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	39	0	ENST00000359596.3:c.7701G>A	p.Pro2567=	p.P2567=	ENST00000359596		2567	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33011.1	7701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCTCTT	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	48/106	.	.	.	.	.	.	.	.	.	48/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;RYR1,synonymous_variant,p.%3D,ENST00000594335,;	7701	39	68	SUCCESS
NUMBL	9253	.	GRCh37	19	41173904	41173904	+	synonymous_variant	Silent	SNP	T	T	C	rs79658769	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	55	2	ENST00000252891.4:c.1299A>G	p.Gln433=	p.Q433=	ENST00000252891	NM_004756.3	433	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS12561.1	1299	SOMATICSNIPER|VARSCANS	.	TGCTGTTGCTG	SITE|p.Q433Q|c.1299A>G|9,BUFFER|p.Q435Q|c.1305A>G|7	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11232:SF32,hmmpanther:PTHR11232,PIRSF_domain:PIRSF017607	.	.	ENSP00000252891	.	10/10	.	.	.	.	.	.	.	.	rs79658769,COSM1393865	10/10	PASS	ENST00000252891	Transcript	.	.	ENSG00000105245	8061	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	NUMBL_HUMAN	NUMBL	HGNC	M0R0Q4_HUMAN,M0QZV7_HUMAN,M0QYC2_HUMAN,B7Z5W0_HUMAN,A8K033_HUMAN	.	UPI000003032B	SNV	NUMBL,synonymous_variant,p.%3D,ENST00000540131,;NUMBL,synonymous_variant,p.%3D,ENST00000598779,;NUMBL,synonymous_variant,p.%3D,ENST00000252891,;	1467	57	79	SUCCESS
FPR2	2358	.	GRCh37	19	52272249	52272249	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1444270158	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	59	0	ENST00000340023.6:c.338T>C	p.Val113Ala	p.V113A	ENST00000340023	NM_001005738.1	113	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12840.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGTCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF16,hmmpanther:PTHR24225,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00526	.	.	ENSP00000468897	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000598776	Transcript	.	.	ENSG00000171049	3827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	FPR2_HUMAN	FPR2	HGNC	M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN	.	UPI00000012D0	SNV	FPR2,missense_variant,p.Val113Ala,ENST00000599326,;FPR2,missense_variant,p.Val113Ala,ENST00000340023,;FPR2,missense_variant,p.Val113Ala,ENST00000598953,;FPR2,missense_variant,p.Val113Ala,ENST00000600722,;FPR2,missense_variant,p.Val113Ala,ENST00000598776,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;	1110	59	91	SUCCESS
NLRP8	126205	.	GRCh37	19	56467121	56467121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	74	0	ENST00000291971.3:c.1697C>T	p.Ala566Val	p.A566V	ENST00000291971	NM_176811.2	566	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12937.1	1697	MUTECT|MUSE	.	CGAGGCCTGCG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11	.	.	ENSP00000291971	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000291971	Transcript	.	.	ENSG00000179709	22940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.27)	.	NALP8_HUMAN	NLRP8	HGNC	.	.	UPI00001BB3C9	SNV	NLRP8,missense_variant,p.Ala566Val,ENST00000590542,;NLRP8,missense_variant,p.Ala566Val,ENST00000291971,;	1768	74	103	SUCCESS
ZNF548	147694	.	GRCh37	19	57909862	57909862	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	7	76	0	ENST00000366197.5:c.207A>T	p.Ser69=	p.S69=	ENST00000366197	NM_152909.3	69	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54324.1	243	MUTECT|MUSE	.	GTGTCAGAGGT	NONE	.	.	hmmpanther:PTHR24387:SF189,hmmpanther:PTHR24387,PROSITE_profiles:PS50805	.	.	ENSP00000337555	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336128	Transcript	.	.	ENSG00000188785	26561	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN548_HUMAN	ZNF548	HGNC	M0R354_HUMAN,M0R041_HUMAN,M0QX17_HUMAN	.	UPI000059D7C2	SNV	ZNF548,synonymous_variant,p.%3D,ENST00000600927,;ZNF548,synonymous_variant,p.%3D,ENST00000336128,;AC003002.4,synonymous_variant,p.%3D,ENST00000597658,;ZNF548,synonymous_variant,p.%3D,ENST00000366197,;ZNF548,3_prime_UTR_variant,,ENST00000597400,;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,intron_variant,,ENST00000596400,;AC003002.6,intron_variant,,ENST00000596617,;ZNF548,downstream_gene_variant,,ENST00000598895,;ZNF548,downstream_gene_variant,,ENST00000594668,;ZNF548,downstream_gene_variant,,ENST00000594693,;ZNF548,downstream_gene_variant,,ENST00000596282,;AC003002.6,intron_variant,,ENST00000600421,;ZNF548,3_prime_UTR_variant,,ENST00000597047,;ZNF548,3_prime_UTR_variant,,ENST00000602086,;ZNF548,non_coding_transcript_exon_variant,,ENST00000597576,;ZNF548,downstream_gene_variant,,ENST00000600442,;	446	76	110	SUCCESS
SLC25A23	79085	.	GRCh37	19	6442104	6442104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	49	0	ENST00000301454.4:c.1289G>T	p.Gly430Val	p.G430V	ENST00000301454	NM_024103.2	430	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS32882.1	1289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCCCTCC	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF196,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000301454	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301454	Transcript	.	.	ENSG00000125648	19375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SCMC3_HUMAN	SLC25A23	HGNC	M0R1X8_HUMAN	.	UPI0000049FAD	SNV	SLC25A23,missense_variant,p.Gly430Val,ENST00000301454,;SLC25A23,missense_variant,p.Gly191Val,ENST00000414491,;SLC25A23,missense_variant,p.Gly193Val,ENST00000593600,;SLC25A23,missense_variant,p.Gly198Val,ENST00000600682,;SLC25A23,intron_variant,,ENST00000601322,;SLC25A23,intron_variant,,ENST00000598908,;SLC25A23,intron_variant,,ENST00000595810,;SLC25A23,downstream_gene_variant,,ENST00000334510,;SLC25A23,intron_variant,,ENST00000601760,;SLC25A23,non_coding_transcript_exon_variant,,ENST00000597039,;SLC25A23,intron_variant,,ENST00000264088,;SLC25A23,intron_variant,,ENST00000598704,;	1396	49	54	SUCCESS
ZNF557	79230	.	GRCh37	19	7075098	7075098	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs377018544	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	27	0	ENST00000414706.1:c.13G>T	p.Val5Phe	p.V5F	ENST00000414706	NM_024341.2	5	Gtc/Ttc	0	A:0	.	.	.	.	T	V/F	protein_coding	YES	CCDS42485.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGTCCTG	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000404065	.	3/8	.	.	.	.	.	.	.	.	rs377018544	3/8	PASS	ENST00000414706	Transcript	.	.	ENSG00000130544	28632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.02)	.	ZN557_HUMAN	ZNF557	HGNC	B2RD50_HUMAN	.	UPI000020324B	SNV	ZNF557,missense_variant,p.Val5Phe,ENST00000414706,;ZNF557,missense_variant,p.Val5Phe,ENST00000439035,;ZNF557,missense_variant,p.Val5Phe,ENST00000252840,;	486	27	43	SUCCESS
GPR89A	653519	.	GRCh37	1	145827047	145827047	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	17	0	ENST00000313835.9:c.-118C>T		p.*40*	ENST00000313835				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41377.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGGCTCT	NONE	.	.	.	.	.	ENSP00000319673	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000313835	Transcript	.	.	ENSG00000117262	31984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPHRA_HUMAN	GPR89A	HGNC	.	.	UPI00000389CC	SNV	GPR89A,5_prime_UTR_variant,,ENST00000313835,;GPR89A,5_prime_UTR_variant,,ENST00000454423,;GPR89A,upstream_gene_variant,,ENST00000534502,;GPR89A,upstream_gene_variant,,ENST00000462900,;WI2-925H4.1,upstream_gene_variant,,ENST00000437377,;GPR89A,upstream_gene_variant,,ENST00000527989,;GPR89A,5_prime_UTR_variant,,ENST00000460277,;GPR89A,upstream_gene_variant,,ENST00000524525,;GPR89A,upstream_gene_variant,,ENST00000528944,;GPR89A,upstream_gene_variant,,ENST00000532574,;GPR89A,upstream_gene_variant,,ENST00000466593,;	27	17	31	SUCCESS
FLG2	388698	.	GRCh37	1	152328831	152328831	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	8	99	0	ENST00000388718.5:c.1431T>C	p.Ser477=	p.S477=	ENST00000388718	NM_001014342.2	477	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30861.1	1431	MUTECT|MUSE	.	AAGCCAGATGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	1504	99	196	SUCCESS
CHTOP	26097	.	GRCh37	1	153617713	153617713	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	6	55	0	ENST00000368694.3:c.715A>G	p.Met239Val	p.M239V	ENST00000368694	NM_001206612.1	239	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS1048.1	715	MUTECT|MUSE	.	CCTACATGGCG	NONE	.	.	hmmpanther:PTHR19965,hmmpanther:PTHR19965:SF22,Pfam_domain:PF13865	.	.	ENSP00000357683	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000368694	Transcript	.	.	ENSG00000160679	24511	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.08)	.	CHTOP_HUMAN	CHTOP	HGNC	.	.	UPI00000467F6	SNV	CHTOP,missense_variant,p.Met193Val,ENST00000403433,;CHTOP,missense_variant,p.Met193Val,ENST00000368690,;CHTOP,missense_variant,p.Met214Val,ENST00000368687,;CHTOP,missense_variant,p.Met239Val,ENST00000368694,;CHTOP,downstream_gene_variant,,ENST00000368686,;CHTOP,non_coding_transcript_exon_variant,,ENST00000495554,;	1027	55	153	SUCCESS
GBA	2629	.	GRCh37	1	155208419	155208419	+	synonymous_variant	Silent	SNP	C	C	T	rs75249684	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	526	50	247	0	ENST00000327247.5:c.477G>A	p.Arg159=	p.R159=	ENST00000327247	NM_001005742.2	159	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1102.1	477	MUTECT|MUSE|VARSCANS	.	GGTACCCGGAT	NONE	byCluster	.	Prints_domain:PR00843,Superfamily_domains:SSF51445,Pfam_domain:PF02055,Gene3D:3.20.20.80,hmmpanther:PTHR11069,hmmpanther:PTHR11069:SF9	.	.	ENSP00000314508	.	6/12	.	.	.	.	.	.	.	.	rs75249684	6/12	PASS	ENST00000327247	Transcript	.	.	ENSG00000177628	4177	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLCM_HUMAN	GBA	HGNC	Q9UQU9_HUMAN,J3KQG4_HUMAN	.	UPI0000073DCE	SNV	GBA,synonymous_variant,p.%3D,ENST00000536770,;GBA,synonymous_variant,p.%3D,ENST00000427500,;GBA,synonymous_variant,p.%3D,ENST00000327247,;GBA,synonymous_variant,p.%3D,ENST00000428024,;GBA,synonymous_variant,p.%3D,ENST00000368373,;AL713999.1,upstream_gene_variant,,ENST00000401290,;GBA,non_coding_transcript_exon_variant,,ENST00000493842,;GBA,non_coding_transcript_exon_variant,,ENST00000491081,;GBA,non_coding_transcript_exon_variant,,ENST00000497670,;GBA,non_coding_transcript_exon_variant,,ENST00000473570,;GBA,non_coding_transcript_exon_variant,,ENST00000460156,;GBA,intron_variant,,ENST00000484489,;GBA,upstream_gene_variant,,ENST00000478472,;GBA,downstream_gene_variant,,ENST00000467918,;GBA,upstream_gene_variant,,ENST00000464536,;GBA,downstream_gene_variant,,ENST00000470104,;MTX1P1,downstream_gene_variant,,ENST00000440904,;	710	247	576	SUCCESS
PKLR	5313	.	GRCh37	1	155264423	155264423	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	71	70	0	ENST00000342741.4:c.815T>C	p.Leu272Pro	p.L272P	ENST00000342741	NM_000298.5	272	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1109.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCAGGTCT	NONE	.	.	hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF9,TIGRFAM_domain:TIGR01064,Gene3D:3.20.20.60,Pfam_domain:PF00224,Superfamily_domains:SSF51621	.	.	ENSP00000339933	.	6/11	.	.	.	.	.	.	.	.	HM080078	6/11	PASS	ENST00000342741	Transcript	.	.	ENSG00000143627	9020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0.01)	.	KPYR_HUMAN	PKLR	HGNC	Q16715_HUMAN,B4DPM0_HUMAN	.	UPI0000001292	SNV	PKLR,missense_variant,p.Leu272Pro,ENST00000342741,;PKLR,missense_variant,p.Leu241Pro,ENST00000392414,;HCN3,downstream_gene_variant,,ENST00000368358,;HCN3,downstream_gene_variant,,ENST00000496230,;PKLR,downstream_gene_variant,,ENST00000434082,;	854	70	172	SUCCESS
CD1E	913	.	GRCh37	1	158325885	158325895	+	protein_altering_variant,splice_region_variant	In_Frame_Del	DEL	CATCCATTGGG	CATCCATTGGG	TGGGT	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	CATCCATTGGG	CATCCATTGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	46	0	ENST00000368167.3:c.894_904delinsTGGGT	p.Ile299_Gly302delinsGlyCys	p.I299_G302delinsGC	ENST00000368167	NM_030893.3	298	atCATCCATTGGGgt/atTGGGTgt	0	.	.	.	.	.	TGGGT	IIHWG/IGC	protein_coding	YES	CCDS41417.1	894-904	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTAATCATCCATTGGGGTGAG	NONE	.	.	hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000357149	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	substitution	CD1E,splice_region_variant,p.Ile209_Gly212delinsGlyCys,ENST00000368165,;CD1E,splice_region_variant,p.Ile110_Gly113delinsGlyCys,ENST00000368166,;CD1E,splice_region_variant,p.Ile200_Gly203delinsGlyCys,ENST00000444681,;CD1E,splice_region_variant,p.Ile299_Gly302delinsGlyCys,ENST00000368160,;CD1E,splice_region_variant,p.Ile299_Gly302delinsGlyCys,ENST00000368167,;CD1E,splice_region_variant,p.Ile209_Gly212delinsGlyCys,ENST00000368156,;CD1E,splice_region_variant,p.Ile110_Gly113delinsGlyCys,ENST00000452291,;CD1E,protein_altering_variant,p.Ile297_Gly300delinsGlyCys,ENST00000434258,;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368161,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368164,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	1133-1143	46	102	SUCCESS
CD1E	913	.	GRCh37	1	158325895	158325896	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	16	45	0	ENST00000368167.3:c.904_904+1insT	p.Gly302ValfsTer25	p.G302Vfs*25	ENST00000368167	NM_030893.3	302	ggt/gTgt	0	.	.	.	.	.	T	G/VX	protein_coding	YES	CCDS41417.1	904-905	INDELOCATOR|VARSCANI	.	ATTGGGGTGAG	NONE	.	.	hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675	.	.	ENSP00000357149	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	insertion	CD1E,frameshift_variant,p.Gly212ValfsTer25,ENST00000368165,;CD1E,frameshift_variant,p.Gly300ValfsTer2,ENST00000434258,;CD1E,frameshift_variant,p.Gly113ValfsTer25,ENST00000368166,;CD1E,frameshift_variant,p.Gly203ValfsTer25,ENST00000444681,;CD1E,frameshift_variant,p.Gly302ValfsTer25,ENST00000368160,;CD1E,frameshift_variant,p.Gly302ValfsTer25,ENST00000368167,;CD1E,frameshift_variant,p.Gly212ValfsTer25,ENST00000368156,;CD1E,frameshift_variant,p.Gly113ValfsTer25,ENST00000452291,;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368161,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368164,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	1143-1144	46	97	SUCCESS
OR10X1	128367	.	GRCh37	1	158548821	158548821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150430213	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	42	93	0	ENST00000368150.1:c.869C>T	p.Pro290Leu	p.P290L	ENST00000368150	NM_001004477.1	290	cCt/cTt	0	A:0	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS30900.1	869	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAAGGGACT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF195,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	A:0	A:0.0001	ENSP00000357132	A:0	1/1	.	.	.	.	.	.	.	.	rs150430213	1/1	PASS	ENST00000368150	Transcript	.	A:0.0002	ENSG00000186400	14995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	A:0.001	deleterious(0.04)	.	O10X1_HUMAN	OR10X1	HGNC	.	.	UPI000004CA20	SNV	OR10X1,missense_variant,p.Pro290Leu,ENST00000368150,;	869	93	184	SUCCESS
PAPPA2	60676	.	GRCh37	1	176563717	176563717	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372509506	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	35	71	0	ENST00000367662.3:c.977G>A	p.Arg326His	p.R326H	ENST00000367662	NM_020318.2	326	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS41438.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGCTCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325,Pfam_domain:PF13385,Gene3D:2.60.120.200,SMART_domains:SM00560,Superfamily_domains:SSF49899	.	A:0.0001	ENSP00000356634	.	3/23	.	.	.	.	.	.	.	.	rs372509506	3/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.23)	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,missense_variant,p.Arg326His,ENST00000367661,;PAPPA2,missense_variant,p.Arg326His,ENST00000367662,;	2141	71	142	SUCCESS
IPO9	55705	.	GRCh37	1	201839912	201839912	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759384995	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	34	0	ENST00000361565.4:c.2335G>A	p.Gly779Arg	p.G779R	ENST00000361565	NM_018085.4	779	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS1415.1	2335	MUTECT|MUSE	.	AACTCGGGGAG	NONE	.	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354742	.	18/24	.	.	.	.	.	.	.	.	rs759384995	18/24	PASS	ENST00000361565	Transcript	.	.	ENSG00000198700	19425	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	IPO9_HUMAN	IPO9	HGNC	.	.	UPI000007304B	SNV	IPO9,missense_variant,p.Gly779Arg,ENST00000361565,;IPO9,upstream_gene_variant,,ENST00000456707,;	2404	34	103	SUCCESS
BROX	148362	.	GRCh37	1	222900566	222900566	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	301	14	142	0	ENST00000340934.5:c.637G>A	p.Ala213Thr	p.A213T	ENST00000340934	NM_144695.2	213	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1534.1	637	MUTECT|MUSE	.	CACTGGCGTAT	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23032,Gene3D:2xs1A01,Pfam_domain:PF03097,SMART_domains:SM01041	.	.	ENSP00000343742	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000340934	Transcript	.	.	ENSG00000162819	26512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	BROX_HUMAN	BROX	HGNC	Q5VW33_HUMAN	.	UPI000013E1D1	SNV	BROX,missense_variant,p.Ala213Thr,ENST00000537020,;BROX,missense_variant,p.Ala213Thr,ENST00000340934,;BROX,missense_variant,p.Ala181Thr,ENST00000539697,;BROX,missense_variant,p.Ala213Thr,ENST00000426638,;BROX,downstream_gene_variant,,ENST00000473962,;BROX,downstream_gene_variant,,ENST00000489191,;	1043	142	315	SUCCESS
PCNXL2	0	.	GRCh37	1	233394789	233394789	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs751193712	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	35	68	0	ENST00000258229.9:c.819C>G	p.Phe273Leu	p.F273L	ENST00000258229	NM_014801.3	273	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS44335.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGAAAGA	NONE	byFrequency	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	5/34	.	.	.	.	.	.	.	.	rs751193712,COSM3485346	5/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated_low_confidence(0.15)	0,1	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Phe273Leu,ENST00000258229,;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,upstream_gene_variant,,ENST00000475463,;	1054	68	187	SUCCESS
OR14A16	284532	.	GRCh37	1	247978806	247978806	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	328	38	166	0	ENST00000357627.1:c.226G>A	p.Ala76Thr	p.A76T	ENST00000357627	NM_001001966.1	76	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31097.1	226	RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCCGTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000350248	.	1/1	.	.	.	.	.	.	.	.	COSM355631	1/1	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.057)	.	deleterious(0)	1	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	SNV	OR14A16,missense_variant,p.Ala76Thr,ENST00000357627,;	226	166	366	SUCCESS
C20orf194	0	.	GRCh37	20	3306871	3306871	+	synonymous_variant	Silent	SNP	A	A	G	rs915408664	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	300	66	273	0	ENST00000252032.9:c.1161T>C	p.Cys387=	p.C387=	ENST00000252032	NM_001009984.2	387	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS42851.1	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATAACATGC	NONE	.	.	.	.	.	ENSP00000252032	.	13/37	.	.	.	.	.	.	.	.	.	13/37	PASS	ENST00000252032	Transcript	.	.	ENSG00000088854	17721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT194_HUMAN	C20orf194	HGNC	Q3KQR5_HUMAN	.	UPI0000470A8D	SNV	C20orf194,synonymous_variant,p.%3D,ENST00000252032,;C20orf194,synonymous_variant,p.%3D,ENST00000453730,;	1229	273	366	SUCCESS
SEMG2	6407	.	GRCh37	20	43851661	43851661	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	15	118	0	ENST00000372769.3:c.1388A>T	p.Glu463Val	p.E463V	ENST00000372769	NM_003008.2	463	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13346.1	1388	MUTECT|MUSE	.	TAAGGAAAATA	NONE	.	.	hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6,Pfam_domain:PF05474	.	.	ENSP00000361855	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000372769	Transcript	.	.	ENSG00000124157	10743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.728)	.	deleterious(0.04)	.	SEMG2_HUMAN	SEMG2	HGNC	.	.	UPI0000135845	SNV	SEMG2,missense_variant,p.Glu463Val,ENST00000372769,;	1478	118	195	SUCCESS
NFATC2	4773	.	GRCh37	20	50158976	50158976	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	104	184	0	ENST00000396009.3:c.63G>A	p.Gly21=	p.G21=	ENST00000396009	NM_001258297.1	21	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13437.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCCAGG	NONE	.	.	hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,synonymous_variant,p.%3D,ENST00000396009,;NFATC2,synonymous_variant,p.%3D,ENST00000371564,;NFATC2,5_prime_UTR_variant,,ENST00000610033,;NFATC2,intron_variant,,ENST00000609943,;NFATC2,intron_variant,,ENST00000609507,;NFATC2,intron_variant,,ENST00000414705,;	283	185	272	SUCCESS
ZNF831	128611	.	GRCh37	20	57769174	57769174	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	28	0	ENST00000371030.2:c.3100A>T	p.Arg1034Trp	p.R1034W	ENST00000371030	NM_178457.2	1034	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS42894.1	3100	RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCAGGCCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.506)	.	tolerated(0.06)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Arg1034Trp,ENST00000371030,;	3100	28	38	SUCCESS
RBBP8NL	140893	.	GRCh37	20	60990335	60990335	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	32	0	ENST00000252998.1:c.636G>A	p.Gln212=	p.Q212=	ENST00000252998	NM_080833.2	212	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13498.1	636	MUTECT|MUSE	.	ATGCGCTGGGG	NONE	.	.	hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1	.	.	ENSP00000252998	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000252998	Transcript	.	.	ENSG00000130701	16144	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RB8NL_HUMAN	RBBP8NL	HGNC	.	.	UPI000013CDA2	SNV	RBBP8NL,synonymous_variant,p.%3D,ENST00000252998,;	793	32	43	SUCCESS
BAGE2	85319	.	GRCh37	21	11049573	11049573	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	9	210	0	ENST00000470054.1:n.536T>C		p.*179*	ENST00000470054				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GATCTAAGAGG	NONE	.	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	536	210	257	SUCCESS
SCAF4	57466	.	GRCh37	21	33065744	33065744	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	46	68	0	ENST00000286835.7:c.1376A>G	p.His459Arg	p.H459R	ENST00000286835	NM_020706.2	459	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS33537.1	1376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGATGCCGA	BUFFER|p.R460Q|c.1379G>A|3	.	.	Superfamily_domains:SSF54928,hmmpanther:PTHR14124,hmmpanther:PTHR14124:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000286835	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000286835	Transcript	.	.	ENSG00000156304	19304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	.	.	SFR15_HUMAN	SCAF4	HGNC	Q0P607_HUMAN	.	UPI0000206D66	SNV	SCAF4,missense_variant,p.His459Arg,ENST00000399804,;SCAF4,missense_variant,p.His459Arg,ENST00000286835,;SCAF4,missense_variant,p.His444Arg,ENST00000434667,;SCAF4,non_coding_transcript_exon_variant,,ENST00000467731,;SCAF4,upstream_gene_variant,,ENST00000472318,;	1759	68	145	SUCCESS
C21orf88	0	.	GRCh37	21	40977899	40977899	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	51	0	ENST00000380612.4:c.152+3611T>A		p.*51*	ENST00000380612				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCAAGTTG	NONE	.	.	.	.	.	ENSP00000369986	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380612	Transcript	.	.	ENSG00000184809	16424	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CU088_HUMAN	C21orf88	HGNC	.	.	UPI00001AFA76	SNV	C21orf88,synonymous_variant,p.%3D,ENST00000380604,;C21orf88,3_prime_UTR_variant,,ENST00000329618,;B3GALT5,intron_variant,,ENST00000380620,;C21orf88,intron_variant,,ENST00000380612,;	.	51	70	SUCCESS
CACNA1I	8911	.	GRCh37	22	40042812	40042812	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752533365	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	10	84	0	ENST00000402142.3:c.1388G>A	p.Arg463Gln	p.R463Q	ENST00000402142	NM_021096.3	463	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS46710.1	1388	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGGCGCC	NONE	byFrequency	.	hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037	.	.	ENSP00000385019	.	8/37	.	.	.	.	.	.	.	.	rs752533365	8/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.914)	.	deleterious(0.01)	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,missense_variant,p.Arg463Gln,ENST00000401624,;CACNA1I,missense_variant,p.Arg463Gln,ENST00000407673,;CACNA1I,missense_variant,p.Arg463Gln,ENST00000402142,;CACNA1I,missense_variant,p.Arg463Gln,ENST00000400164,;CACNA1I,missense_variant,p.Arg463Gln,ENST00000336649,;CACNA1I,missense_variant,p.Arg463Gln,ENST00000404898,;CACNA1I,downstream_gene_variant,,ENST00000471970,;	1388	84	101	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107450508	107450508	+	synonymous_variant	Silent	SNP	C	C	T	rs755704412	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	64	0	ENST00000361686.4:c.1038G>A	p.Ser346=	p.S346=	ENST00000361686	NM_032528.2	346	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2073.1	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCGAATT	CODON|p.S346L|c.1037C>T|3,CODON|p.S346L|c.1037C>T|6	byFrequency	.	hmmpanther:PTHR13713:SF48,hmmpanther:PTHR13713,Pfam_domain:PF00777,Superfamily_domains:SSF88713	.	.	ENSP00000386942	.	3/6	.	.	.	.	.	.	.	.	rs755704412,COSM3723722,COSM3723723	3/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,synonymous_variant,p.%3D,ENST00000409087,;ST6GAL2,synonymous_variant,p.%3D,ENST00000409382,;ST6GAL2,synonymous_variant,p.%3D,ENST00000361686,;ST6GAL2,upstream_gene_variant,,ENST00000361803,;AC016994.2,upstream_gene_variant,,ENST00000425419,;	1649	65	92	SUCCESS
SH3RF3	344558	.	GRCh37	2	109964272	109964272	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772155064	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	12	115	0	ENST00000309415.6:c.716C>A	p.Thr239Lys	p.T239K	ENST00000309415	NM_001099289.1	239	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	.	716	MUTECT|MUSE	.	CGGCACACAGG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00499	.	.	ENSP00000309186	.	2/10	.	.	.	.	.	.	.	.	rs772155064	2/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	tolerated(0.39)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Thr239Lys,ENST00000309415,;SH3RF3,missense_variant,p.Thr239Lys,ENST00000418513,;	716	115	151	SUCCESS
UBR3	130507	.	GRCh37	2	170785285	170785285	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	39	0	ENST00000272793.5:c.2473A>T	p.Ser825Cys	p.S825C	ENST00000272793		825	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS2238.2	2473	RADIA|MUTECT|MUSE	.	GTTACAGCTTT	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	.	.	ENSP00000396068	.	18/39	.	.	.	.	.	.	.	.	.	18/39	PASS	ENST00000418381	Transcript	.	.	ENSG00000144357	30467	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0.04)	.	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	SNV	UBR3,missense_variant,p.Ser825Cys,ENST00000418381,;UBR3,missense_variant,p.Ser825Cys,ENST00000272793,;UBR3,upstream_gene_variant,,ENST00000430321,;	2473	39	48	SUCCESS
METAP1D	254042	.	GRCh37	2	172930371	172930371	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762564065	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	5	62	0	ENST00000315796.4:c.388C>T	p.Arg130Trp	p.R130W	ENST00000315796	NM_199227.1	130	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2246.1	388	MUTECT|MUSE	.	TTCATCGGGAA	NONE	byFrequency	.	HAMAP:MF_01974,hmmpanther:PTHR10804:SF82,hmmpanther:PTHR10804,TIGRFAM_domain:TIGR00500,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920	.	.	ENSP00000315152	.	4/10	.	.	.	.	.	.	.	.	rs762564065	4/10	PASS	ENST00000315796	Transcript	.	.	ENSG00000172878	32583	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious(0)	.	MAP12_HUMAN	METAP1D	HGNC	.	.	UPI00001AF10C	SNV	METAP1D,missense_variant,p.Arg130Trp,ENST00000315796,;METAP1D,non_coding_transcript_exon_variant,,ENST00000392582,;METAP1D,intron_variant,,ENST00000488581,;METAP1D,downstream_gene_variant,,ENST00000491440,;METAP1D,downstream_gene_variant,,ENST00000493742,;METAP1D,downstream_gene_variant,,ENST00000493035,;	775	62	82	SUCCESS
HECW2	57520	.	GRCh37	2	197066049	197066049	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	87	0	ENST00000260983.3:c.4671A>T	p.Glu1557Asp	p.E1557D	ENST00000260983	NM_020760.1	1557	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS33354.1	4671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTTTCATA	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000260983	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	.	deleterious(0.05)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Glu1557Asp,ENST00000260983,;HECW2,missense_variant,p.Glu1201Asp,ENST00000409111,;	4854	87	86	SUCCESS
SLC16A14	151473	.	GRCh37	2	230914607	230914607	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	94	222	0	ENST00000295190.4:c.273C>T	p.Gly91=	p.G91=	ENST00000295190	NM_152527.4	91	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2473.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGCCGAT	BUFFER|p.L92F|c.276G>T|4	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF121,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000295190	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000295190	Transcript	.	.	ENSG00000163053	26417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOT14_HUMAN	SLC16A14	HGNC	C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN	.	UPI000004EE99	SNV	SLC16A14,synonymous_variant,p.%3D,ENST00000412034,;SLC16A14,synonymous_variant,p.%3D,ENST00000457406,;SLC16A14,synonymous_variant,p.%3D,ENST00000295190,;	732	222	279	SUCCESS
AGAP1	116987	.	GRCh37	2	236653455	236653455	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	72	1	ENST00000304032.8:c.510G>C	p.Glu170Asp	p.E170D	ENST00000304032	NM_001037131.2	170	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS33408.1	510	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGCGAGATTCC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR23180:SF226,hmmpanther:PTHR23180,Gene3D:3.40.50.300,Pfam_domain:PF08477,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	.	.	ENSP00000307634	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000304032	Transcript	.	.	ENSG00000157985	16922	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.43)	.	AGAP1_HUMAN	AGAP1	HGNC	Q53S93_HUMAN,Q4ZG54_HUMAN,Q4ZG22_HUMAN,F5GXM9_HUMAN	.	UPI00005E1AE1	SNV	AGAP1,missense_variant,p.Glu170Asp,ENST00000304032,;AGAP1,missense_variant,p.Glu170Asp,ENST00000409457,;AGAP1,missense_variant,p.Glu170Asp,ENST00000336665,;AGAP1,missense_variant,p.Glu9Asp,ENST00000428334,;AGAP1,missense_variant,p.Glu117Asp,ENST00000402604,;AGAP1,missense_variant,p.Glu435Asp,ENST00000409538,;	1090	73	67	SUCCESS
CAPN10	11132	.	GRCh37	2	241535793	241535793	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	8	104	0	ENST00000391984.2:c.1336A>C	p.Thr446Pro	p.T446P	ENST00000391984	NM_023083.3	446	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS42838.1	1336	MUTECT|MUSE	.	CTGGCACCGCG	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF30,Gene3D:2.60.120.380,Pfam_domain:PF01067,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000375844	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000391984	Transcript	.	.	ENSG00000142330	1477	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CAN10_HUMAN	CAPN10	HGNC	.	.	UPI00001AE96D	SNV	CAPN10,missense_variant,p.Thr446Pro,ENST00000404753,;CAPN10,missense_variant,p.Thr446Pro,ENST00000391984,;CAPN10,intron_variant,,ENST00000270364,;CAPN10,intron_variant,,ENST00000354082,;CAPN10,intron_variant,,ENST00000352879,;CAPN10,downstream_gene_variant,,ENST00000391982,;CAPN10,downstream_gene_variant,,ENST00000432084,;CAPN10,missense_variant,p.Thr446Pro,ENST00000391983,;CAPN10,missense_variant,p.Thr446Pro,ENST00000357048,;CAPN10,3_prime_UTR_variant,,ENST00000270361,;CAPN10,3_prime_UTR_variant,,ENST00000416591,;CAPN10,non_coding_transcript_exon_variant,,ENST00000494738,;CAPN10,non_coding_transcript_exon_variant,,ENST00000483602,;CAPN10,non_coding_transcript_exon_variant,,ENST00000493058,;CAPN10,downstream_gene_variant,,ENST00000465943,;CAPN10,upstream_gene_variant,,ENST00000426297,;	1532	104	127	SUCCESS
SPAST	6683	.	GRCh37	2	32289153	32289153	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs944177131	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	541	115	503	0	ENST00000315285.3:c.253G>A	p.Ala85Thr	p.A85T	ENST00000315285	NM_014946.3	85	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1778.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGCCCTC	NONE	.	.	HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,PIRSF_domain:PIRSF037338	.	.	ENSP00000320885	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000315285	Transcript	.	.	ENSG00000021574	11233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.55)	.	SPAST_HUMAN	SPAST	HGNC	E5KRP5_HUMAN	.	UPI0000038A6B	SNV	SPAST,missense_variant,p.Ala85Thr,ENST00000315285,;SPAST,missense_variant,p.Ala85Thr,ENST00000345662,;	378	503	656	SUCCESS
SOS1	6654	.	GRCh37	2	39250269	39250269	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs397517148	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	58	0	ENST00000402219.2:c.1300G>A	p.Gly434Arg	p.G434R	ENST00000402219	NM_005633.3	434	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1802.1	1300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TTTTCCCTCCC	NONE	.	.	Superfamily_domains:SSF50729,Gene3D:2.30.29.30,hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113	.	.	ENSP00000387784	.	11/24	.	.	.	.	.	.	.	.	rs397517148,CM074572,CM070282,COSM1690493	11/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	benign(0.347)	.	deleterious(0.01)	0,0,0,1	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Gly434Arg,ENST00000395038,;SOS1,missense_variant,p.Gly434Arg,ENST00000426016,;SOS1,missense_variant,p.Gly434Arg,ENST00000402219,;SOS1,downstream_gene_variant,,ENST00000428721,;SOS1,non_coding_transcript_exon_variant,,ENST00000472480,;SOS1,downstream_gene_variant,,ENST00000461545,;	1387	58	77	SUCCESS
DYSF	8291	.	GRCh37	2	71839841	71839841	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768354800	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	53	131	0	ENST00000258104.3:c.4238G>A	p.Arg1413His	p.R1413H	ENST00000258104	NM_003494.3	1413	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS46328.1	4292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGCCGGC	NONE	byFrequency	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000386881	.	39/56	.	.	.	.	.	.	.	.	rs768354800,COSM575934,COSM1142746	39/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	0,1,1	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Arg1431His,ENST00000410020,;DYSF,missense_variant,p.Arg1414His,ENST00000394120,;DYSF,missense_variant,p.Arg1414His,ENST00000409366,;DYSF,missense_variant,p.Arg1413His,ENST00000258104,;DYSF,missense_variant,p.Arg1430His,ENST00000409582,;DYSF,missense_variant,p.Arg1413His,ENST00000429174,;DYSF,missense_variant,p.Arg1400His,ENST00000409744,;DYSF,missense_variant,p.Arg1430His,ENST00000409762,;DYSF,missense_variant,p.Arg1431His,ENST00000410041,;DYSF,missense_variant,p.Arg1445His,ENST00000409651,;DYSF,missense_variant,p.Arg1444His,ENST00000413539,;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;DYSF,non_coding_transcript_exon_variant,,ENST00000487180,;DYSF,non_coding_transcript_exon_variant,,ENST00000494501,;DYSF,non_coding_transcript_exon_variant,,ENST00000468173,;DYSF,downstream_gene_variant,,ENST00000472873,;	4433	131	185	SUCCESS
COLQ	8292	.	GRCh37	3	15498035	15498035	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1221084401	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	26	0	ENST00000383788.5:c.1006G>A	p.Ala336Thr	p.A336T	ENST00000383788	NM_005677.3	336	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33709.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCGTTTT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF6	.	.	ENSP00000373298	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000383788	Transcript	.	.	ENSG00000206561	2226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.05)	.	COLQ_HUMAN	COLQ	HGNC	.	.	UPI000013F74C	SNV	COLQ,missense_variant,p.Ala336Thr,ENST00000383788,;COLQ,missense_variant,p.Ala326Thr,ENST00000383781,;COLQ,missense_variant,p.Ala302Thr,ENST00000383786,;COLQ,missense_variant,p.Ala336Thr,ENST00000603808,;COLQ,missense_variant,p.Ala326Thr,ENST00000435459,;COLQ,missense_variant,p.Ala327Thr,ENST00000383787,;COLQ,3_prime_UTR_variant,,ENST00000383785,;EAF1-AS1,upstream_gene_variant,,ENST00000608408,;	1132	26	51	SUCCESS
CCNL1	57018	.	GRCh37	3	156876717	156876717	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	39	0	ENST00000295926.3:c.426A>G	p.Ala142=	p.A142=	ENST00000295926	NM_020307.2	142	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3178.1	426	MUTECT|MUSE|VARSCANS	.	CTAGGTGCTTC	NONE	.	.	hmmpanther:PTHR10026:SF64,hmmpanther:PTHR10026,Pfam_domain:PF00134,Gene3D:1.10.472.10,PIRSF_domain:PIRSF036580,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000295926	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000295926	Transcript	.	.	ENSG00000163660	20569	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCNL1_HUMAN	CCNL1	HGNC	.	.	UPI0000071CE2	SNV	CCNL1,synonymous_variant,p.%3D,ENST00000461804,;CCNL1,synonymous_variant,p.%3D,ENST00000295926,;CCNL1,synonymous_variant,p.%3D,ENST00000295925,;RP11-555M1.3,upstream_gene_variant,,ENST00000480817,;CCNL1,synonymous_variant,p.%3D,ENST00000477127,;CCNL1,synonymous_variant,p.%3D,ENST00000475298,;CCNL1,synonymous_variant,p.%3D,ENST00000470121,;CCNL1,synonymous_variant,p.%3D,ENST00000465947,;CCNL1,non_coding_transcript_exon_variant,,ENST00000476367,;CCNL1,non_coding_transcript_exon_variant,,ENST00000464575,;CCNL1,non_coding_transcript_exon_variant,,ENST00000471044,;CCNL1,non_coding_transcript_exon_variant,,ENST00000466101,;CCNL1,non_coding_transcript_exon_variant,,ENST00000478454,;CCNL1,non_coding_transcript_exon_variant,,ENST00000467081,;CCNL1,non_coding_transcript_exon_variant,,ENST00000479596,;CCNL1,upstream_gene_variant,,ENST00000464316,;KRT18P34,downstream_gene_variant,,ENST00000488218,;	545	39	59	SUCCESS
PIK3CA	5290	.	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913279	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	9	112	0	ENST00000263967.3:c.3140A>G	p.His1047Arg	p.H1047R	ENST00000263967	NM_006218.2	1047	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS43171.1	3140	MUTECT|MUSE|VARSCANS	pathogenic	TGCACATCATG	SITE|p.H1047R|c.3140A>G|1687,SITE|p.H1047R|c.3140A>G|242,CODON|p.H1047Y|c.3139C>T|8,CODON|p.H1047Y|c.3139C>T|54,CODON|p.H1047L|c.3140A>T|236,CODON|p.H1047L|c.3140A>T|45,BUFFER|p.M1043I|c.3129G>T|4,BUFFER|p.M1043I|c.3129G>A|8,BUFFER|p.M1043I|c.3129G>T|45,BUFFER|p.M1043I|c.3129G>A|22,BUFFER|p.M1043I|c.3129G>C|4,BUFFER|p.M1043I|c.3129G>C|6,BUFFER|p.N1044D|c.3130A>G|4,BUFFER|p.N1044Y|c.3130A>T|3,BUFFER|p.N1044S|c.3131A>G|5,BUFFER|p.N1044S|c.3131A>G|3,BUFFER|p.N1044K|c.3132T>G|5,BUFFER|p.N1044K|c.3132T>A|15,BUFFER|p.N1044K|c.3132T>A|7,BUFFER|p.D1045N|c.3133G>A|6,BUFFER|p.A1046T|c.3136G>A|6,BUFFER|p.A1046E|c.3137C>A|3,BUFFER|p.H1047Q|c.3141T>G|4,BUFFER|p.H1048R|c.3143A>G|6,BUFFER|p.H1048R|c.3143A>G|3,BUFFER|p.G1049S|c.3145G>A|16,BUFFER|p.G1049R|c.3145G>C|29,BUFFER|p.G1049R|c.3145G>C|5,BUFFER|p.G1049A|c.3146G>C|3,BUFFER|p.G1049D|c.3146G>A|4,BUFFER|p.G1049G|c.3147T>C|10,BUFFER|p.G1050S|c.3148G>A|3,BUFFER|p.G1050D|c.3149G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000263967	.	21/21	.	.	.	.	.	.	.	.	rs121913279,COSM776,COSM775,COSM249874,COSM94987,COSM94986	21/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1,1,1,1	.	25710561	possibly_damaging(0.529)	.	tolerated(0.11)	0,1,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	3297	112	116	SUCCESS
GADL1	339896	.	GRCh37	3	30842571	30842571	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	55	0	ENST00000282538.5:c.1060A>T	p.Lys354Ter	p.K354*	ENST00000282538	NM_207359.2	354	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2649.2	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61,Gene3D:3.40.640.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383	.	.	ENSP00000282538	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000282538	Transcript	.	.	ENSG00000144644	27949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,stop_gained,p.Lys354Ter,ENST00000454381,;GADL1,stop_gained,p.Lys354Ter,ENST00000282538,;	1211	55	77	SUCCESS
MAP4	4134	.	GRCh37	3	47950683	47950683	+	intron_variant	Intron	DEL	G	G	-	rs766186661	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	49	0	ENST00000360240.6:c.1999+5624del		p.*667*	ENST00000360240	NM_002375.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33750.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTTTGATTCA	NONE	.	.	.	.	.	ENSP00000353375	.	.	.	.	.	.	.	.	.	.	rs766186661	.	PASS	ENST00000360240	Transcript	.	.	ENSG00000047849	6862	.	.	MODIFIER	8/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAP4_HUMAN	MAP4	HGNC	.	.	UPI000020A6A4	deletion	MAP4,frameshift_variant,p.Ser1760Ter,ENST00000426837,;MAP4,frameshift_variant,p.Ser26Ter,ENST00000429422,;MAP4,frameshift_variant,p.Ser350Ter,ENST00000383736,;MAP4,frameshift_variant,p.Ser350Ter,ENST00000264724,;MAP4,frameshift_variant,p.Ser343Ter,ENST00000383737,;MAP4,intron_variant,,ENST00000360240,;MAP4,intron_variant,,ENST00000395734,;MAP4,intron_variant,,ENST00000482752,;	.	49	77	SUCCESS
RASSF1	11186	.	GRCh37	3	50374725	50374725	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	48	0	ENST00000357043.2:c.369+611T>G		p.*123*	ENST00000357043				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2820.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCGAAAGAA	NONE	.	.	.	.	.	ENSP00000349547	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357043	Transcript	.	.	ENSG00000068028	9882	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF1_HUMAN	RASSF1	HGNC	Q1W2K8_HUMAN	.	UPI000006FD97	SNV	RASSF1,missense_variant,p.Phe9Cys,ENST00000327761,;RASSF1,intron_variant,,ENST00000359365,;RASSF1,intron_variant,,ENST00000357043,;RASSF1,intron_variant,,ENST00000395126,;ZMYND10,downstream_gene_variant,,ENST00000442887,;ZMYND10,downstream_gene_variant,,ENST00000360165,;ZMYND10,downstream_gene_variant,,ENST00000231749,;ZMYND10-AS1,upstream_gene_variant,,ENST00000440013,;RASSF1,non_coding_transcript_exon_variant,,ENST00000488024,;ZMYND10,downstream_gene_variant,,ENST00000490675,;RASSF1,non_coding_transcript_exon_variant,,ENST00000478619,;RASSF1,non_coding_transcript_exon_variant,,ENST00000494145,;RASSF1,intron_variant,,ENST00000395117,;RASSF1,intron_variant,,ENST00000482447,;ZMYND10,downstream_gene_variant,,ENST00000475688,;	.	48	53	SUCCESS
APPL1	26060	.	GRCh37	3	57282311	57282311	+	synonymous_variant	Silent	SNP	C	C	T	rs765622292	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	29	139	0	ENST00000288266.3:c.795C>T	p.Asp265=	p.D265=	ENST00000288266	NM_012096.2	265	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS2882.1	795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACCCAGA	NONE	byFrequency	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF235,Superfamily_domains:SSF103657	.	.	ENSP00000288266	.	10/22	.	.	.	.	.	.	.	.	rs765622292	10/22	PASS	ENST00000288266	Transcript	.	.	ENSG00000157500	24035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DP13A_HUMAN	APPL1	HGNC	.	.	UPI00000712DA	SNV	APPL1,synonymous_variant,p.%3D,ENST00000288266,;APPL1,non_coding_transcript_exon_variant,,ENST00000482800,;	942	139	167	SUCCESS
OR5H6	79295	.	GRCh37	3	97984101	97984101	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	119	1	ENST00000383696.2:c.973G>A	p.Val325Ile	p.V325I	ENST00000383696	NM_001005479.1	325	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS33800.1	973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATGTTTAG	NONE	.	.	.	.	.	ENSP00000373196	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383696	Transcript	.	.	ENSG00000230301	14767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated_low_confidence(0.37)	.	OR5H6_HUMAN	OR5H6	HGNC	.	.	UPI000004B1EC	SNV	OR5H6,missense_variant,p.Val325Ile,ENST00000383696,;RP11-325B23.2,intron_variant,,ENST00000508616,;	1014	120	113	SUCCESS
MANBA	4126	.	GRCh37	4	103561007	103561007	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	73	0	ENST00000226578.4:c.1877A>T	p.Gln626Leu	p.Q626L	ENST00000226578	NM_005908.3	626	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3658.1	1877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTGCATC	NONE	.	.	hmmpanther:PTHR10066:SF12,hmmpanther:PTHR10066,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000226578	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000226578	Transcript	1	.	ENSG00000109323	6831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	MANBA_HUMAN	MANBA	HGNC	.	.	UPI000013C8A2	SNV	MANBA,missense_variant,p.Gln626Leu,ENST00000226578,;MANBA,missense_variant,p.Gln569Leu,ENST00000505239,;MANBA,non_coding_transcript_exon_variant,,ENST00000508141,;MANBA,non_coding_transcript_exon_variant,,ENST00000514430,;	1977	73	75	SUCCESS
TET2	54790	.	GRCh37	4	106158333	106158333	+	synonymous_variant	Silent	SNP	C	C	T	rs184727510	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	94	0	ENST00000380013.4:c.3234C>T	p.Thr1078=	p.T1078=	ENST00000380013	NM_001127208.2	1078	acC/acT	0	.	T:0	.	T:0.0014	.	T	T	protein_coding	YES	CCDS47120.1	3234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCCCAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23358:SF3,hmmpanther:PTHR23358	T:0	.	ENSP00000442788	T:0	3/11	.	.	.	.	.	.	.	.	rs184727510	3/11	PASS	ENST00000540549	Transcript	1	T:0.0002	ENSG00000168769	25941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,synonymous_variant,p.%3D,ENST00000305737,;TET2,synonymous_variant,p.%3D,ENST00000413648,;TET2,synonymous_variant,p.%3D,ENST00000540549,;TET2,synonymous_variant,p.%3D,ENST00000380013,;TET2,synonymous_variant,p.%3D,ENST00000545826,;TET2,synonymous_variant,p.%3D,ENST00000513237,;TET2,synonymous_variant,p.%3D,ENST00000394764,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,synonymous_variant,p.%3D,ENST00000265149,;	4094	94	90	SUCCESS
ARHGEF38	54848	.	GRCh37	4	106534538	106534538	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	32	0	ENST00000420470.2:c.385-3C>T		p.X129_splice	ENST00000420470	NM_001242729.1	129		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56338.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCAGACT	NONE	.	.	.	.	.	ENSP00000416125	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420470	Transcript	.	.	ENSG00000236699	25968	.	.	LOW	2/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARH38_HUMAN	ARHGEF38	HGNC	.	.	UPI0001D3B6A5	SNV	ARHGEF38,splice_region_variant,,ENST00000265154,;ARHGEF38,splice_region_variant,,ENST00000420470,;ARHGEF38,splice_region_variant,,ENST00000506828,;	.	32	25	SUCCESS
TRIM2	23321	.	GRCh37	4	154191666	154191666	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs750120043	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	58	98	0	ENST00000437508.2:c.129C>A	p.Cys43Ter	p.C43*	ENST00000437508	NM_001130067.1	43	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS3781.2	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCGAGAG	NONE	byFrequency	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF2,PROSITE_patterns:PS00518,Pfam_domain:PF13923,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000339659	.	2/12	.	.	.	.	.	.	.	.	rs750120043	2/12	PASS	ENST00000338700	Transcript	1	.	ENSG00000109654	15974	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIM2_HUMAN	TRIM2	HGNC	C9JVI3_HUMAN,C9J084_HUMAN	.	UPI00005A60C0	SNV	TRIM2,stop_gained,p.Cys43Ter,ENST00000441616,;TRIM2,stop_gained,p.Cys70Ter,ENST00000338700,;TRIM2,stop_gained,p.Cys43Ter,ENST00000437508,;TRIM2,intron_variant,,ENST00000433687,;RNU6-1196P,upstream_gene_variant,,ENST00000516221,;Y_RNA,upstream_gene_variant,,ENST00000364916,;TRIM2,non_coding_transcript_exon_variant,,ENST00000494872,;TRIM2,non_coding_transcript_exon_variant,,ENST00000479711,;TRIM2,non_coding_transcript_exon_variant,,ENST00000502281,;TRIM2,non_coding_transcript_exon_variant,,ENST00000482578,;	275	98	91	SUCCESS
IRF2	3660	.	GRCh37	4	185339806	185339806	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1367364942	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	72	0	ENST00000393593.3:c.244A>G	p.Arg82Gly	p.R82G	ENST00000393593	NM_002199.3	82	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS3835.1	244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCTGAAAT	BUFFER|p.A79V|c.236C>T|3	.	.	Prints_domain:PR00267,Superfamily_domains:SSF46785,PIRSF_domain:PIRSF038196,SMART_domains:SM00348,Gene3D:1.10.10.10,Pfam_domain:PF00605,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22,PROSITE_profiles:PS51507	.	.	ENSP00000377218	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000393593	Transcript	.	.	ENSG00000168310	6117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IRF2_HUMAN	IRF2	HGNC	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN	.	UPI000012D888	SNV	IRF2,missense_variant,p.Arg82Gly,ENST00000507523,;IRF2,missense_variant,p.Arg82Gly,ENST00000393593,;IRF2,missense_variant,p.Arg82Gly,ENST00000506230,;IRF2,missense_variant,p.Arg82Gly,ENST00000510814,;IRF2,upstream_gene_variant,,ENST00000502750,;IRF2,upstream_gene_variant,,ENST00000505067,;IRF2,non_coding_transcript_exon_variant,,ENST00000512020,;IRF2,3_prime_UTR_variant,,ENST00000509274,;	452	72	56	SUCCESS
GRXCR1	389207	.	GRCh37	4	42895607	42895607	+	synonymous_variant	Silent	SNP	C	C	A	rs764108411	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	59	0	ENST00000399770.2:c.324C>A	p.Gly108=	p.G108=	ENST00000399770	NM_001080476.2	108	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43225.1	324	MUTECT|MUSE|VARSCANS	.	AGAGGCGTCAA	NONE	.	.	hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	1/4	.	.	.	.	.	.	.	.	rs764108411	1/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,synonymous_variant,p.%3D,ENST00000399770,;RN7SKP82,downstream_gene_variant,,ENST00000516786,;	324	59	64	SUCCESS
GRXCR1	389207	.	GRCh37	4	42964912	42964912	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772869375	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	46	92	0	ENST00000399770.2:c.388C>A	p.Pro130Thr	p.P130T	ENST00000399770	NM_001080476.2	130	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS43225.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAACCATCA	NONE	byFrequency	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	2/4	.	.	.	.	.	.	.	.	rs772869375	2/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	tolerated(0.1)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Pro130Thr,ENST00000399770,;	388	92	124	SUCCESS
FRYL	285527	.	GRCh37	4	48502062	48502062	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	39	0	ENST00000358350.4:c.8768A>T	p.Gln2923Leu	p.Q2923L	ENST00000358350	NM_015030.1	2923	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS43227.1	8768	MUTECT|MUSE	.	TGACTTGTGCT	NONE	.	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	63/64	.	.	.	.	.	.	.	.	.	63/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	tolerated(0.62)	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,missense_variant,p.Gln2923Leu,ENST00000358350,;FRYL,missense_variant,p.Gln2923Leu,ENST00000503238,;FRYL,missense_variant,p.Gln313Leu,ENST00000507873,;FRYL,missense_variant,p.Gln313Leu,ENST00000264319,;FRYL,missense_variant,p.Gln2923Leu,ENST00000537810,;FRYL,non_coding_transcript_exon_variant,,ENST00000512810,;FRYL,non_coding_transcript_exon_variant,,ENST00000503339,;	9373	39	72	SUCCESS
LRRC66	339977	.	GRCh37	4	52883570	52883570	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	54	87	0	ENST00000343457.3:c.210T>C	p.Asn70=	p.N70=	ENST00000343457	NM_001024611.1	70	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS43229.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAATTGAA	NONE	.	.	hmmpanther:PTHR24369:SF55,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000341944	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000343457	Transcript	.	.	ENSG00000188993	34299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC66_HUMAN	LRRC66	HGNC	.	.	UPI0000425C5B	SNV	LRRC66,synonymous_variant,p.%3D,ENST00000343457,;SGCB,downstream_gene_variant,,ENST00000381431,;SGCB,downstream_gene_variant,,ENST00000535450,;	217	87	132	SUCCESS
STK32B	55351	.	GRCh37	4	5333066	5333066	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	45	0	ENST00000282908.5:c.380T>G	p.Ile127Ser	p.I127S	ENST00000282908	NM_018401.1	127	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS3380.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACATCTGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000282908	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000282908	Transcript	.	.	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.464)	.	deleterious(0)	.	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.Ile80Ser,ENST00000510398,;STK32B,missense_variant,p.Ile80Ser,ENST00000512636,;STK32B,missense_variant,p.Ile127Ser,ENST00000282908,;STK32B,non_coding_transcript_exon_variant,,ENST00000505508,;STK32B,non_coding_transcript_exon_variant,,ENST00000513705,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	802	45	61	SUCCESS
MRFAP1	93621	.	GRCh37	4	6642497	6642497	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	32	0	ENST00000320912.4:c.-35-58G>C		p.*12*	ENST00000320912	NM_001272053.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3389.1	.	MUTECT|MUSE	.	TTCAGGAATAT	NONE	.	.	.	.	.	ENSP00000318352	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320912	Transcript	.	.	ENSG00000179010	24549	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MOFA1_HUMAN	MRFAP1	HGNC	.	.	UPI000006F0BC	SNV	MRFAP1,5_prime_UTR_variant,,ENST00000382581,;MRFAP1,intron_variant,,ENST00000320912,;MRFAP1,intron_variant,,ENST00000507420,;MRFAP1,non_coding_transcript_exon_variant,,ENST00000512914,;	.	32	44	SUCCESS
UGT2B10	7365	.	GRCh37	4	69681942	69681942	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	83	1	ENST00000265403.7:c.205T>A	p.Ser69Thr	p.S69T	ENST00000265403	NM_001075.4	69	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	.	205	MUTECT|MUSE	.	ACTCATCCACT	NONE	.	.	hmmpanther:PTHR11926:SF124,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000265403	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000265403	Transcript	.	.	ENSG00000109181	12544	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.524)	.	deleterious(0.04)	.	UDB10_HUMAN	UGT2B10	HGNC	.	.	UPI0000137A96	SNV	UGT2B10,missense_variant,p.Ser69Thr,ENST00000265403,;UGT2B10,missense_variant,p.Ser69Thr,ENST00000458688,;RP11-468N14.1,downstream_gene_variant,,ENST00000507455,;	232	84	90	SUCCESS
FBN2	2201	.	GRCh37	5	127668623	127668623	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	46	150	0	ENST00000262464.4:c.4203A>G	p.Gly1401=	p.G1401=	ENST00000262464	NM_001999.3	1401	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS34222.1	4203	RADIA|MUTECT|MUSE	.	CCGTTTCCAAT	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	38/71	.	.	.	.	.	.	.	.	.	38/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;FBN2,synonymous_variant,p.%3D,ENST00000507835,;FBN2,synonymous_variant,p.%3D,ENST00000508989,;	5178	150	162	SUCCESS
SLC4A9	83697	.	GRCh37	5	139743132	139743132	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	13	78	0	ENST00000507527.1:c.1143G>T	p.Arg381=	p.R381=	ENST00000507527		381	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS58973.1	1143	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGGACCGG	NONE	.	.	Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834,hmmpanther:PTHR11453:SF33,hmmpanther:PTHR11453	.	.	ENSP00000230993	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000230993	Transcript	.	.	ENSG00000113073	11035	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B3A4_HUMAN	SLC4A9	HGNC	.	.	UPI000018336F	SNV	SLC4A9,synonymous_variant,p.%3D,ENST00000230993,;SLC4A9,synonymous_variant,p.%3D,ENST00000507527,;SLC4A9,synonymous_variant,p.%3D,ENST00000506757,;SLC4A9,synonymous_variant,p.%3D,ENST00000506545,;SLC4A9,synonymous_variant,p.%3D,ENST00000432095,;SLC4A9,upstream_gene_variant,,ENST00000514849,;	1178	78	119	SUCCESS
PDGFRB	5159	.	GRCh37	5	149515368	149515368	+	synonymous_variant	Silent	SNP	C	C	T	rs781077602	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	36	93	0	ENST00000261799.4:c.114G>A	p.Pro38=	p.P38=	ENST00000261799	NM_002609.3	38	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4303.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCGGGGG	NONE	.	.	PROSITE_profiles:PS50835,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,Superfamily_domains:SSF48726	.	.	ENSP00000261799	.	3/23	.	.	.	.	.	.	.	.	rs781077602	3/23	PASS	ENST00000261799	Transcript	1	.	ENSG00000113721	8804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGFRB_HUMAN	PDGFRB	HGNC	E5RJ14_HUMAN,E5RII0_HUMAN	.	UPI0000131791	SNV	PDGFRB,synonymous_variant,p.%3D,ENST00000517957,;PDGFRB,synonymous_variant,p.%3D,ENST00000261799,;PDGFRB,5_prime_UTR_variant,,ENST00000517488,;PDGFRB,downstream_gene_variant,,ENST00000517660,;PDGFRB,synonymous_variant,p.%3D,ENST00000520579,;PDGFRB,upstream_gene_variant,,ENST00000522466,;	584	93	172	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159776448	159776448	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	37	0	ENST00000393975.3:c.720C>T	p.Tyr240=	p.Y240=	ENST00000393975	NM_031908.4	240	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS4351.2	720	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGTAGAT	NONE	.	.	Prints_domain:PR00007,Superfamily_domains:SSF49842,SMART_domains:SM00110,Pfam_domain:PF00386,Gene3D:2.60.120.40,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF8,PROSITE_profiles:PS50871	.	.	ENSP00000377545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,synonymous_variant,p.%3D,ENST00000393975,;CCNJL,upstream_gene_variant,,ENST00000521643,;	724	37	70	SUCCESS
COL23A1	91522	.	GRCh37	5	177695729	177695729	+	splice_donor_variant	Splice_Site	SNP	A	A	G	rs200266099	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	27	0	ENST00000390654.3:c.495+2T>C		p.X165_splice	ENST00000390654	NM_173465.3	165		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4436.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTACCTTT	NONE	byCluster	.	.	.	.	ENSP00000375069	.	.	.	.	.	.	.	.	.	.	rs200266099	.	PASS	ENST00000390654	Transcript	.	.	ENSG00000050767	22990	.	.	HIGH	7/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CONA1_HUMAN	COL23A1	HGNC	.	.	UPI0000062274	SNV	COL23A1,splice_donor_variant,,ENST00000407622,;COL23A1,splice_donor_variant,,ENST00000390654,;	.	27	56	SUCCESS
KIAA0947	0	.	GRCh37	5	5463105	5463105	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	42	138	0	ENST00000296564.7:c.3658A>T	p.Arg1220Ter	p.R1220*	ENST00000296564	NM_015325.2	1220	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS47187.1	3658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACAGAAAG	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,stop_gained,p.Arg1220Ter,ENST00000296564,;	3880	138	141	SUCCESS
SKIV2L2	0	.	GRCh37	5	54640445	54640445	+	synonymous_variant	Silent	SNP	A	A	G	rs774405064	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	222	13	189	0	ENST00000230640.5:c.1002A>G	p.Glu334=	p.E334=	ENST00000230640	NM_015360.4	334	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS3967.1	1002	MUTECT|MUSE	.	GATGAAAATGT	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,PIRSF_domain:PIRSF005198	.	.	ENSP00000230640	.	9/27	.	.	.	.	.	.	.	.	rs774405064	9/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,synonymous_variant,p.%3D,ENST00000545714,;SKIV2L2,synonymous_variant,p.%3D,ENST00000230640,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000504997,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,3_prime_UTR_variant,,ENST00000505565,;SKIV2L2,downstream_gene_variant,,ENST00000502953,;	1256	189	236	SUCCESS
DDX4	54514	.	GRCh37	5	55082361	55082361	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757404630	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	94	0	ENST00000505374.1:c.880A>G	p.Asn294Asp	p.N294D	ENST00000505374	NM_024415.2	294	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3969.1	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTAATCTC	NONE	.	.	PROSITE_profiles:PS51195,hmmpanther:PTHR24031:SF168,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000424838	.	14/22	.	.	.	.	.	.	.	.	rs757404630	14/22	PASS	ENST00000505374	Transcript	.	.	ENSG00000152670	18700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.18)	.	DDX4_HUMAN	DDX4	HGNC	D6RBL3_HUMAN,D6RAF5_HUMAN	.	UPI00001290D3	SNV	DDX4,missense_variant,p.Asn260Asp,ENST00000353507,;DDX4,missense_variant,p.Asn274Asp,ENST00000514278,;DDX4,missense_variant,p.Asn274Asp,ENST00000506511,;DDX4,missense_variant,p.Asn145Asp,ENST00000511853,;DDX4,missense_variant,p.Asn260Asp,ENST00000354991,;DDX4,missense_variant,p.Asn294Asp,ENST00000505374,;DDX4,missense_variant,p.Asn200Asp,ENST00000503129,;DDX4,downstream_gene_variant,,ENST00000507645,;DDX4,downstream_gene_variant,,ENST00000509312,;	972	94	103	SUCCESS
FABP7	2173	.	GRCh37	6	123101529	123101529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	82	173	0	ENST00000368444.3:c.167G>A	p.Ser56Asn	p.S56N	ENST00000368444	NM_001446.3	56	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS5127.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGCACAT	NONE	.	.	hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF57,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814	.	.	ENSP00000357429	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000368444	Transcript	.	.	ENSG00000164434	3562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	deleterious(0.01)	.	FABP7_HUMAN	FABP7	HGNC	.	.	UPI000013E3A9	SNV	FABP7,missense_variant,p.Ser56Asn,ENST00000356535,;FABP7,missense_variant,p.Ser56Asn,ENST00000368444,;	487	173	251	SUCCESS
STXBP5	134957	.	GRCh37	6	147646126	147646126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	394	34	308	0	ENST00000321680.6:c.1834G>A	p.Gly612Ser	p.G612S	ENST00000321680	NM_001127715.2	612	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS47499.1	1834	MUTECT|MUSE	.	CTCCAGGTTAT	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22	.	.	ENSP00000321826	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,missense_variant,p.Gly612Ser,ENST00000321680,;STXBP5,missense_variant,p.Gly612Ser,ENST00000367480,;STXBP5,missense_variant,p.Gly283Ser,ENST00000179882,;STXBP5,missense_variant,p.Gly612Ser,ENST00000367481,;STXBP5,upstream_gene_variant,,ENST00000367475,;STXBP5,upstream_gene_variant,,ENST00000392291,;	1834	308	428	SUCCESS
MAP3K4	4216	.	GRCh37	6	161494612	161494612	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764381750	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	100	0	ENST00000392142.4:c.2065G>A	p.Ala689Thr	p.A689T	ENST00000392142	NM_005922.2	689	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34565.1	2065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACGCTTTT	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	5/27	.	.	.	.	.	.	.	.	rs764381750	5/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.52)	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,missense_variant,p.Ala689Thr,ENST00000366919,;MAP3K4,missense_variant,p.Ala689Thr,ENST00000348824,;MAP3K4,missense_variant,p.Ala689Thr,ENST00000366920,;MAP3K4,missense_variant,p.Ala689Thr,ENST00000392142,;MAP3K4,missense_variant,p.Ala689Thr,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000542851,;MAP3K4,downstream_gene_variant,,ENST00000542952,;	2213	100	103	SUCCESS
SLC17A3	10786	.	GRCh37	6	25849672	25849672	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs754092647	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	43	78	0	ENST00000360657.3:c.1058G>C	p.Gly353Ala	p.G353A	ENST00000360657		353	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS47385.1	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTCCCATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF134,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000380250	.	11/13	.	.	.	.	.	.	.	.	rs754092647	11/13	PASS	ENST00000397060	Transcript	.	.	ENSG00000124564	10931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.08)	.	NPT4_HUMAN	SLC17A3	HGNC	H0Y9F7_HUMAN	.	UPI0001536779	SNV	SLC17A3,missense_variant,p.Gly32Ala,ENST00000481949,;SLC17A3,missense_variant,p.Gly353Ala,ENST00000360657,;SLC17A3,missense_variant,p.Gly431Ala,ENST00000397060,;SLC17A3,missense_variant,p.Gly353Ala,ENST00000361703,;SLC17A3,upstream_gene_variant,,ENST00000505420,;SLC17A3,downstream_gene_variant,,ENST00000503922,;SLC17A3,downstream_gene_variant,,ENST00000308453,;SLC17A3,downstream_gene_variant,,ENST00000449356,;SLC17A3,downstream_gene_variant,,ENST00000509714,;SLC17A3,downstream_gene_variant,,ENST00000506105,;	1402	78	124	SUCCESS
HIST1H3B	0	.	GRCh37	6	26032006	26032006	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	78	0	ENST00000244661.2:c.283G>A	p.Glu95Lys	p.E95K	ENST00000244661	NM_003537.3	95	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4573.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCTGCA	NONE	.	.	hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000244661	.	1/1	.	.	.	.	.	.	.	.	COSM1487519	1/1	PASS	ENST00000244661	Transcript	.	.	ENSG00000124693	4776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	1	H31_HUMAN	HIST1H3B	HGNC	.	.	UPI00000003C7	SNV	HIST1H3B,missense_variant,p.Glu95Lys,ENST00000244661,;HIST1H2AB,downstream_gene_variant,,ENST00000259791,;HIST1H4B,upstream_gene_variant,,ENST00000377364,;	283	78	83	SUCCESS
LEMD2	221496	.	GRCh37	6	33748859	33748859	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756710069	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	28	0	ENST00000293760.5:c.925A>G	p.Ile309Val	p.I309V	ENST00000293760	NM_181336.3	309	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS4785.1	925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATATATT	NONE	byFrequency	.	hmmpanther:PTHR13428,hmmpanther:PTHR13428:SF8,Pfam_domain:PF09402	.	.	ENSP00000293760	.	4/9	.	.	.	.	.	.	.	.	rs756710069	4/9	PASS	ENST00000293760	Transcript	.	.	ENSG00000161904	21244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.91)	.	LEMD2_HUMAN	LEMD2	HGNC	D6RBV0_HUMAN,D6R958_HUMAN	.	UPI000006DAEA	SNV	LEMD2,missense_variant,p.Ile175Val,ENST00000442696,;LEMD2,missense_variant,p.Ile309Val,ENST00000293760,;LEMD2,missense_variant,p.Ile7Val,ENST00000513701,;LEMD2,missense_variant,p.Ile7Val,ENST00000508327,;LEMD2,upstream_gene_variant,,ENST00000504692,;LEMD2,upstream_gene_variant,,ENST00000506578,;LEMD2,non_coding_transcript_exon_variant,,ENST00000502643,;LEMD2,3_prime_UTR_variant,,ENST00000421671,;LEMD2,non_coding_transcript_exon_variant,,ENST00000514636,;LEMD2,non_coding_transcript_exon_variant,,ENST00000513832,;LEMD2,non_coding_transcript_exon_variant,,ENST00000511171,;LEMD2,non_coding_transcript_exon_variant,,ENST00000512368,;LEMD2,upstream_gene_variant,,ENST00000510598,;	945	28	62	SUCCESS
LAMB1	3912	.	GRCh37	7	107603404	107603404	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	16	61	0	ENST00000222399.6:c.1803del	p.Ile601MetfsTer13	p.I601Mfs*13	ENST00000222399	NM_002291.2	601	atT/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS5750.1	1803	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGTCAATGAA	NONE	.	.	PROSITE_profiles:PS51116,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574	.	.	ENSP00000222399	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	deletion	LAMB1,frameshift_variant,p.Ile625MetfsTer13,ENST00000393561,;LAMB1,frameshift_variant,p.Ile601MetfsTer13,ENST00000393560,;LAMB1,frameshift_variant,p.Ile601MetfsTer13,ENST00000222399,;	2034	61	88	SUCCESS
NRCAM	4897	.	GRCh37	7	107808806	107808806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	67	0	ENST00000379028.3:c.3229G>T	p.Ala1077Ser	p.A1077S	ENST00000379028		1077	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47686.1	3229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCTGCAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000368314	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.27)	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,missense_variant,p.Ala1077Ser,ENST00000379022,;NRCAM,missense_variant,p.Ala27Ser,ENST00000445634,;NRCAM,missense_variant,p.Ala1077Ser,ENST00000379028,;NRCAM,missense_variant,p.Ala1077Ser,ENST00000425651,;NRCAM,intron_variant,,ENST00000351718,;NRCAM,intron_variant,,ENST00000413765,;NRCAM,intron_variant,,ENST00000379024,;NRCAM,intron_variant,,ENST00000465585,;NRCAM,intron_variant,,ENST00000415105,;	3700	67	77	SUCCESS
PRSS37	136242	.	GRCh37	7	141540998	141540998	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	23	0	ENST00000350549.3:c.-149C>T		p.*50*	ENST00000350549	NM_001008270.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34764.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGGCATA	NONE	.	.	.	.	.	ENSP00000297767	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000350549	Transcript	.	.	ENSG00000165076	29211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS37_HUMAN	PRSS37	HGNC	B7ZMK3_HUMAN	.	UPI000004223A	SNV	PRSS37,5_prime_UTR_variant,,ENST00000350549,;PRSS37,intron_variant,,ENST00000438520,;PRSS37,5_prime_UTR_variant,,ENST00000452758,;PRSS37,intron_variant,,ENST00000419085,;	224	23	36	SUCCESS
OR2F1	26211	.	GRCh37	7	143657530	143657530	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	42	98	0	ENST00000392899.1:c.467C>G	p.Ser156Cys	p.S156C	ENST00000392899	NM_012369.2	156	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS5887.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCTCCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF116,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000376633	.	1/1	.	.	.	.	.	.	.	.	COSM1548873,COSM368216	1/1	PASS	ENST00000392899	Transcript	.	.	ENSG00000213215	8246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.997)	.	deleterious(0.03)	1,1	OR2F1_HUMAN	OR2F1	HGNC	.	.	UPI000003FF87	SNV	OR2F1,missense_variant,p.Ser156Cys,ENST00000392899,;RP4-669B10.3,intron_variant,,ENST00000470988,;RP4-669B10.3,downstream_gene_variant,,ENST00000466281,;	504	98	128	SUCCESS
TMUB1	83590	.	GRCh37	7	150778970	150778970	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs568920028	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	24	0	ENST00000297533.4:c.407G>C	p.Arg136Pro	p.R136P	ENST00000297533	NM_001136044.1	136	cGg/cCg	0	.	T:0	.	T:0	.	G	R/P	protein_coding	YES	CCDS5920.1	407	RADIA|MUTECT|MUSE	.	GTTCCCGGCCG	NONE	by1000G	.	Superfamily_domains:SSF54236,Gene3D:3.10.20.90,hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF3,PROSITE_profiles:PS50053	T:0	.	ENSP00000376565	T:0.001	3/3	.	.	.	.	.	.	.	.	rs568920028	3/3	PASS	ENST00000392818	Transcript	.	T:0.0002	ENSG00000164897	21709	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.749)	T:0	deleterious(0)	.	TMUB1_HUMAN	TMUB1	HGNC	C9JE12_HUMAN,C9JCW7_HUMAN	.	UPI0000071C66	SNV	TMUB1,missense_variant,p.Arg136Pro,ENST00000488752,;TMUB1,missense_variant,p.Arg136Pro,ENST00000297533,;TMUB1,missense_variant,p.Arg136Pro,ENST00000482202,;TMUB1,missense_variant,p.Arg136Pro,ENST00000392818,;TMUB1,missense_variant,p.Arg136Pro,ENST00000462940,;TMUB1,missense_variant,p.Arg136Pro,ENST00000476627,;TMUB1,missense_variant,p.Arg136Pro,ENST00000492838,;AGAP3,upstream_gene_variant,,ENST00000473312,;FASTK,upstream_gene_variant,,ENST00000297532,;AGAP3,upstream_gene_variant,,ENST00000479901,;FASTK,upstream_gene_variant,,ENST00000353841,;AGAP3,upstream_gene_variant,,ENST00000463381,;AGAP3,upstream_gene_variant,,ENST00000397238,;FASTK,upstream_gene_variant,,ENST00000540185,;FASTK,upstream_gene_variant,,ENST00000482571,;AGAP3,upstream_gene_variant,,ENST00000490097,;FASTK,upstream_gene_variant,,ENST00000478477,;FASTK,upstream_gene_variant,,ENST00000489884,;FASTK,upstream_gene_variant,,ENST00000496663,;FASTK,upstream_gene_variant,,ENST00000461979,;FASTK,upstream_gene_variant,,ENST00000460980,;FASTK,upstream_gene_variant,,ENST00000482806,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000469237,;FASTK,upstream_gene_variant,,ENST00000459800,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000465272,;FASTK,upstream_gene_variant,,ENST00000467237,;	765	24	25	SUCCESS
TMUB1	83590	.	GRCh37	7	150778972	150778972	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	25	0	ENST00000297533.4:c.405C>A	p.Gly135=	p.G135=	ENST00000297533	NM_001136044.1	135	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5920.1	405	RADIA|MUTECT|MUSE	.	TCCCGGCCGGG	NONE	.	.	Superfamily_domains:SSF54236,Gene3D:3.10.20.90,hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF3,PROSITE_profiles:PS50053	.	.	ENSP00000376565	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000392818	Transcript	.	.	ENSG00000164897	21709	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMUB1_HUMAN	TMUB1	HGNC	C9JE12_HUMAN,C9JCW7_HUMAN	.	UPI0000071C66	SNV	TMUB1,synonymous_variant,p.%3D,ENST00000488752,;TMUB1,synonymous_variant,p.%3D,ENST00000297533,;TMUB1,synonymous_variant,p.%3D,ENST00000482202,;TMUB1,synonymous_variant,p.%3D,ENST00000392818,;TMUB1,synonymous_variant,p.%3D,ENST00000462940,;TMUB1,synonymous_variant,p.%3D,ENST00000476627,;TMUB1,synonymous_variant,p.%3D,ENST00000492838,;AGAP3,upstream_gene_variant,,ENST00000473312,;FASTK,upstream_gene_variant,,ENST00000297532,;AGAP3,upstream_gene_variant,,ENST00000479901,;FASTK,upstream_gene_variant,,ENST00000353841,;AGAP3,upstream_gene_variant,,ENST00000463381,;AGAP3,upstream_gene_variant,,ENST00000397238,;FASTK,upstream_gene_variant,,ENST00000540185,;FASTK,upstream_gene_variant,,ENST00000482571,;AGAP3,upstream_gene_variant,,ENST00000490097,;FASTK,upstream_gene_variant,,ENST00000478477,;FASTK,upstream_gene_variant,,ENST00000489884,;FASTK,upstream_gene_variant,,ENST00000496663,;FASTK,upstream_gene_variant,,ENST00000461979,;FASTK,upstream_gene_variant,,ENST00000460980,;FASTK,upstream_gene_variant,,ENST00000482806,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000469237,;FASTK,upstream_gene_variant,,ENST00000459800,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000465272,;FASTK,upstream_gene_variant,,ENST00000467237,;	763	25	25	SUCCESS
VPS41	27072	.	GRCh37	7	38794299	38794299	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	58	135	0	ENST00000310301.4:c.1788+3G>T		p.X596_splice	ENST00000310301	NM_014396.3	596		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5457.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTCACCAC	NONE	.	.	.	.	.	ENSP00000309457	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310301	Transcript	.	.	ENSG00000006715	12713	.	.	LOW	21/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VPS41_HUMAN	VPS41	HGNC	Q75MS2_HUMAN,C9J2U9_HUMAN	.	UPI000000DAB7	SNV	VPS41,splice_region_variant,,ENST00000310301,;VPS41,splice_region_variant,,ENST00000395969,;VPS41,downstream_gene_variant,,ENST00000462429,;	.	135	210	SUCCESS
EGFR	1956	.	GRCh37	7	55236291	55236291	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	25	0	ENST00000275493.2:c.1881-2577C>T		p.*627*	ENST00000275493	NM_005228.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5514.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCCTTTG	NONE	.	.	.	.	.	ENSP00000275493	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	MODIFIER	15/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,3_prime_UTR_variant,,ENST00000342916,;EGFR,intron_variant,,ENST00000454757,;EGFR,intron_variant,,ENST00000344576,;EGFR,intron_variant,,ENST00000275493,;EGFR,intron_variant,,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;	.	25	46	SUCCESS
ZNF716	441234	.	GRCh37	7	57529086	57529086	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782403591	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	57	0	ENST00000420713.1:c.919C>T	p.Arg307Cys	p.R307C	ENST00000420713	NM_001159279.1	307	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS55112.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCCGCTCT	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000394248	.	4/4	.	.	.	.	.	.	.	.	rs782403591,COSM4149291,COSM4149290	4/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.001)	.	tolerated(0.23)	0,1,1	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,missense_variant,p.Arg307Cys,ENST00000420713,;	1031	57	72	SUCCESS
ZNF679	168417	.	GRCh37	7	63727101	63727101	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	65	0	ENST00000255746.4:c.1090T>C	p.Ser364Pro	p.S364P	ENST00000255746	NM_001159524.1	364	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47592.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTCCTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000416809	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421025	Transcript	.	.	ENSG00000197123	28650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.04)	.	ZN679_HUMAN	ZNF679	HGNC	.	.	UPI000045756A	SNV	ZNF679,missense_variant,p.Ser364Pro,ENST00000255746,;ZNF679,missense_variant,p.Ser364Pro,ENST00000421025,;	1359	66	110	SUCCESS
PHTF2	57157	.	GRCh37	7	77579094	77579094	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	82	0	ENST00000248550.7:c.2059C>T	p.Leu687Phe	p.L687F	ENST00000248550		687	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47621.1	1957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCTTGGA	NONE	.	.	hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	15/18	.	.	.	.	.	.	.	.	COSM1091981,COSM1091980	15/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,missense_variant,p.Leu649Phe,ENST00000307305,;PHTF2,missense_variant,p.Leu653Phe,ENST00000416283,;PHTF2,missense_variant,p.Leu653Phe,ENST00000422959,;PHTF2,missense_variant,p.Leu687Phe,ENST00000248550,;PHTF2,intron_variant,,ENST00000275575,;PHTF2,non_coding_transcript_exon_variant,,ENST00000470215,;	2083	82	106	SUCCESS
CSMD3	114788	.	GRCh37	8	113403006	113403006	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs771901615	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	34	65	0	ENST00000297405.5:c.5821G>T	p.Gly1941Ter	p.G1941*	ENST00000297405	NM_198123.1	1941	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS6315.1	5821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCACCAC	NONE	byFrequency	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	36/71	.	.	.	.	.	.	.	.	rs771901615	36/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,stop_gained,p.Gly1871Ter,ENST00000352409,;CSMD3,stop_gained,p.Gly1837Ter,ENST00000455883,;CSMD3,stop_gained,p.Gly1941Ter,ENST00000297405,;CSMD3,stop_gained,p.Gly1211Ter,ENST00000339701,;CSMD3,stop_gained,p.Gly1901Ter,ENST00000343508,;	6066	65	138	SUCCESS
SLC30A8	169026	.	GRCh37	8	118174119	118174119	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	19	71	0	ENST00000456015.2:c.715T>A	p.Tyr239Asn	p.Y239N	ENST00000456015	NM_173851.2	239	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS6322.1	715	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTACTTT	NONE	.	.	hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Superfamily_domains:0054606	.	.	ENSP00000415011	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.71)	.	deleterious(0)	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,missense_variant,p.Tyr190Asn,ENST00000427715,;SLC30A8,missense_variant,p.Tyr239Asn,ENST00000456015,;SLC30A8,missense_variant,p.Tyr190Asn,ENST00000519688,;SLC30A8,missense_variant,p.Tyr190Asn,ENST00000521243,;RN7SL826P,upstream_gene_variant,,ENST00000479724,;	715	71	150	SUCCESS
OC90	729330	.	GRCh37	8	133048665	133048665	+	intron_variant	Intron	SNP	A	A	T	rs765936091	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	23	0	ENST00000254627.3:c.679+1020T>A		p.*227*	ENST00000254627	NM_001080399.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47919.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCACTGTG	NONE	byFrequency	.	.	.	.	ENSP00000473802	.	.	.	.	.	.	.	.	.	.	rs765936091	.	PASS	ENST00000603859	Transcript	.	.	ENSG00000258417	8100	.	.	MODIFIER	9/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	OC90	Uniprot_gn	.	.	UPI000192B908	SNV	OC90,missense_variant,p.Val423Glu,ENST00000262283,;OC90,missense_variant,p.Val227Glu,ENST00000443356,;OC90,intron_variant,,ENST00000603859,;OC90,intron_variant,,ENST00000254627,;	.	23	48	SUCCESS
COL22A1	169044	.	GRCh37	8	139696713	139696713	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	32	82	0	ENST00000303045.6:c.2968-1G>T		p.X990_splice	ENST00000303045	NM_152888.1	990		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6376.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCCTGGAG	NONE	.	.	.	.	.	ENSP00000303153	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	HIGH	38/64	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,splice_acceptor_variant,,ENST00000303045,;COL22A1,splice_acceptor_variant,,ENST00000435777,;COL22A1,splice_acceptor_variant,,ENST00000341807,;	.	82	134	SUCCESS
BAI1	0	.	GRCh37	8	143558497	143558497	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	5	39	0	ENST00000323289.5:c.1080G>A	p.Trp360Ter	p.W360*	ENST00000323289	NM_001702.2	360	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS64985.1	1080	MUTECT|MUSE	.	GAGTGGTCCCC	NONE	.	.	Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,PROSITE_profiles:PS50092	.	.	ENSP00000430945	.	5/31	.	.	.	.	.	.	.	.	.	5/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,stop_gained,p.Trp360Ter,ENST00000323289,;BAI1,stop_gained,p.Trp360Ter,ENST00000517894,;BAI1,stop_gained,p.Trp360Ter,ENST00000521208,;BAI1,upstream_gene_variant,,ENST00000518820,;	1974	39	70	SUCCESS
EXOSC4	54512	.	GRCh37	8	145133577	145133577	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	39	99	0	ENST00000316052.5:c.-55A>G		p.*19*	ENST00000316052	NM_019037.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6414.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTAGTTCT	NONE	.	.	.	.	.	ENSP00000315476	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000316052	Transcript	.	.	ENSG00000178896	18189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOS4_HUMAN	EXOSC4	HGNC	.	.	UPI0000000C49	SNV	EXOSC4,5_prime_UTR_variant,,ENST00000525936,;EXOSC4,5_prime_UTR_variant,,ENST00000316052,;GPAA1,upstream_gene_variant,,ENST00000361036,;GPAA1,upstream_gene_variant,,ENST00000524418,;GPAA1,upstream_gene_variant,,ENST00000525087,;GPAA1,upstream_gene_variant,,ENST00000530258,;GPAA1,upstream_gene_variant,,ENST00000355091,;EXOSC4,upstream_gene_variant,,ENST00000527954,;CTD-3065J16.9,non_coding_transcript_exon_variant,,ENST00000524499,;GPAA1,upstream_gene_variant,,ENST00000527144,;GPAA1,upstream_gene_variant,,ENST00000526341,;GPAA1,upstream_gene_variant,,ENST00000528073,;GPAA1,upstream_gene_variant,,ENST00000530633,;GPAA1,upstream_gene_variant,,ENST00000532758,;GPAA1,upstream_gene_variant,,ENST00000529503,;GPAA1,upstream_gene_variant,,ENST00000525308,;	49	99	133	SUCCESS
GALNT12	79695	.	GRCh37	9	101570305	101570305	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773910987	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	28	0	ENST00000375011.3:c.325G>A	p.Asp109Asn	p.D109N	ENST00000375011	NM_024642.4	109	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS6737.1	325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGACCGC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF18	.	.	ENSP00000364150	.	1/10	.	.	.	.	.	.	.	.	rs773910987	1/10	PASS	ENST00000375011	Transcript	.	.	ENSG00000119514	19877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GLT12_HUMAN	GALNT12	HGNC	.	.	UPI000004D295	SNV	GALNT12,missense_variant,p.Asp109Asn,ENST00000375011,;	325	28	58	SUCCESS
GALNT12	79695	.	GRCh37	9	101597550	101597550	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	82	0	ENST00000375011.3:c.937G>A	p.Gly313Arg	p.G313R	ENST00000375011	NM_024642.4	313	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6737.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGGGCTG	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF18,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	.	ENSP00000364150	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000375011	Transcript	.	.	ENSG00000119514	19877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLT12_HUMAN	GALNT12	HGNC	.	.	UPI000004D295	SNV	GALNT12,missense_variant,p.Gly313Arg,ENST00000375011,;	937	82	111	SUCCESS
GRIN3A	116443	.	GRCh37	9	104433046	104433046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	5	90	0	ENST00000361820.3:c.1648G>T	p.Asp550Tyr	p.D550Y	ENST00000361820	NM_133445.2	550	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6758.1	1648	MUTECT|MUSE	.	AGAGTCATTAG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163,Low_complexity_(Seg):seg	.	.	ENSP00000355155	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,missense_variant,p.Asp550Tyr,ENST00000361820,;	2249	90	108	SUCCESS
FRMPD1	22844	.	GRCh37	9	37745441	37745441	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	82	0	ENST00000377765.3:c.3412G>A	p.Gly1138Ser	p.G1138S	ENST00000377765	NM_014907.2	1138	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS6612.1	3412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGGTGAT	NONE	.	.	hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436	.	.	ENSP00000444411	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000539465	Transcript	.	.	ENSG00000070601	29159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.22)	.	FRPD1_HUMAN	FRMPD1	HGNC	F5H0G3_HUMAN	.	UPI000013D2CC	SNV	FRMPD1,missense_variant,p.Gly1138Ser,ENST00000539465,;FRMPD1,missense_variant,p.Gly1138Ser,ENST00000377765,;FRMPD1,downstream_gene_variant,,ENST00000536622,;FRMPD1,downstream_gene_variant,,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;	4005	82	106	SUCCESS
PTPDC1	138639	.	GRCh37	9	96864001	96864001	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	26	108	0	ENST00000375360.3:c.2005G>A	p.Asp669Asn	p.D669N	ENST00000375360	NM_001253830.1	669	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS6708.1	2161	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGATGCC	NONE	.	.	hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF25	.	.	ENSP00000288976	.	7/9	.	.	.	.	.	.	.	.	COSM360525,COSM360526	7/9	PASS	ENST00000288976	Transcript	.	.	ENSG00000158079	30184	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.2)	.	tolerated(0.26)	1,1	PTPC1_HUMAN	PTPDC1	HGNC	.	.	UPI000004DC48	SNV	PTPDC1,missense_variant,p.Asp721Asn,ENST00000288976,;PTPDC1,missense_variant,p.Asp669Asn,ENST00000375360,;PTPDC1,non_coding_transcript_exon_variant,,ENST00000467049,;	2228	109	161	SUCCESS
TMEM35	0	.	GRCh37	X	100333929	100333929	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	6	55	0	ENST00000372930.4:c.-63G>A		p.*21*	ENST00000372930	NM_021637.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14478.1	.	MUTECT|MUSE	.	TGCCTGCACCT	NONE	.	.	.	.	.	ENSP00000362021	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000372930	Transcript	.	.	ENSG00000126950	25864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM35_HUMAN	TMEM35	HGNC	.	.	UPI0000035FFB	SNV	TMEM35,5_prime_UTR_variant,,ENST00000372930,;TRMT2B-AS1,intron_variant,,ENST00000443801,;TMEM35,upstream_gene_variant,,ENST00000478351,;	221	55	78	SUCCESS
NRK	203447	.	GRCh37	X	105197132	105197132	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	45	234	0	ENST00000243300.9:c.4620G>A	p.Lys1540=	p.K1540=	ENST00000243300	NM_198465.2	1540	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	.	4623	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAAGAAGCT	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF216,Pfam_domain:PF00780,SMART_domains:SM00036	.	.	ENSP00000438378	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,synonymous_variant,p.%3D,ENST00000540278,;NRK,synonymous_variant,p.%3D,ENST00000428173,;NRK,synonymous_variant,p.%3D,ENST00000243300,;	4926	234	283	SUCCESS
COL4A5	1287	.	GRCh37	X	107863658	107863658	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	20	114	0	ENST00000361603.2:c.2677+2T>C		p.X893_splice	ENST00000361603	NM_000495.4	893		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35366.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTAATTT	NONE	.	.	.	.	.	ENSP00000331902	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	HIGH	31/52	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,splice_donor_variant,,ENST00000328300,;COL4A5,splice_donor_variant,,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000505728,;COL4A5,splice_donor_variant,,ENST00000483338,;	.	114	166	SUCCESS
MIR1298	100302153	.	GRCh37	X	113949680	113949680	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	20	105	0	ENST00000408783.1:n.31C>T		p.*11*	ENST00000408783				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14564.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCCAGAT	NONE	.	.	.	.	.	ENSP00000276198	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000276198	Transcript	.	.	ENSG00000147246	5295	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,intron_variant,,ENST00000371950,;HTR2C,intron_variant,,ENST00000276198,;HTR2C,intron_variant,,ENST00000371951,;MIR1298,mature_miRNA_variant,,ENST00000408783,;	.	105	140	SUCCESS
DDX26B	0	.	GRCh37	X	134711160	134711160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	41	158	0	ENST00000370752.4:c.1816C>A	p.Gln606Lys	p.Q606K	ENST00000370752	NM_182540.4	606	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS35401.1	1816	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACAAAAC	NONE	.	.	hmmpanther:PTHR12957:SF22,hmmpanther:PTHR12957	.	.	ENSP00000359788	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000370752	Transcript	.	.	ENSG00000165359	27334	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.761)	.	deleterious(0.05)	.	DX26B_HUMAN	DDX26B	HGNC	.	.	UPI00004A3AAF	SNV	DDX26B,missense_variant,p.Gln606Lys,ENST00000370752,;DDX26B,non_coding_transcript_exon_variant,,ENST00000481908,;DDX26B,upstream_gene_variant,,ENST00000481429,;DDX26B,upstream_gene_variant,,ENST00000494957,;DDX26B,non_coding_transcript_exon_variant,,ENST00000493637,;	2150	158	243	SUCCESS
FATE1	89885	.	GRCh37	X	150891213	150891213	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs766462495	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	96	146	0	ENST00000370350.3:c.534G>A	p.Trp178Ter	p.W178*	ENST00000370350	NM_033085.2	178	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS14700.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF05644,hmmpanther:PTHR21128	.	.	ENSP00000359375	.	5/5	.	.	.	.	.	.	.	.	rs766462495	5/5	PASS	ENST00000370350	Transcript	.	.	ENSG00000147378	24683	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FATE1_HUMAN	FATE1	HGNC	.	.	UPI0000073DB2	SNV	FATE1,stop_gained,p.Trp178Ter,ENST00000370350,;FATE1,3_prime_UTR_variant,,ENST00000417321,;	619	146	251	SUCCESS
AMER1	139285	.	GRCh37	X	63413266	63413266	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	23	0	ENST00000330258.3:c.-98-2A>T		p.X33_splice	ENST00000330258	NM_152424.3	33		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14377.2	.	MUTECT|MUSE	.	GGGTCTGGAGG	NONE	.	.	.	.	.	ENSP00000329117	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	HIGH	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,splice_acceptor_variant,,ENST00000374869,;AMER1,splice_acceptor_variant,,ENST00000330258,;AMER1,upstream_gene_variant,,ENST00000403336,;	.	23	25	SUCCESS
PHKA1	5255	.	GRCh37	X	71813017	71813017	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	70	159	0	ENST00000373542.4:c.3180G>A	p.Leu1060=	p.L1060=	ENST00000373542	NM_002637.3	1060	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14421.1	3180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCAGCCT	NONE	.	.	hmmpanther:PTHR10749:SF4,hmmpanther:PTHR10749	.	.	ENSP00000362643	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000373542	Transcript	.	.	ENSG00000067177	8925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPB1_HUMAN	PHKA1	HGNC	.	.	UPI000013D340	SNV	PHKA1,synonymous_variant,p.%3D,ENST00000373545,;PHKA1,synonymous_variant,p.%3D,ENST00000339490,;PHKA1,synonymous_variant,p.%3D,ENST00000373542,;PHKA1,synonymous_variant,p.%3D,ENST00000541944,;PHKA1,synonymous_variant,p.%3D,ENST00000373539,;	3340	159	171	SUCCESS
DDB1	1642	.	GRCh37	11	61090560	61090560	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs367862166	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	132	0	ENST00000301764.7:c.928A>G	p.Ile310Val	p.I310V	ENST00000301764	NM_001923.4	310	Att/Gtt	0	C:0	.	.	.	.	C	I/V	protein_coding	YES	CCDS31576.1	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAATAGAGG	NONE	byCluster	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF3,Pfam_domain:PF10433	.	C:0.0001	ENSP00000301764	.	8/27	.	.	.	.	.	.	.	.	rs367862166	8/27	PASS	ENST00000301764	Transcript	.	.	ENSG00000167986	2717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	tolerated(0.11)	.	DDB1_HUMAN	DDB1	HGNC	F8WF81_HUMAN,F5H775_HUMAN,F5H6C5_HUMAN,F5H581_HUMAN,F5H2L3_HUMAN,F5H0Y5_HUMAN,F5GZY8_HUMAN,F5GZ34_HUMAN,F5GYG8_HUMAN	.	UPI0000000CB7	SNV	DDB1,missense_variant,p.Ile125Val,ENST00000541513,;DDB1,missense_variant,p.Ile93Val,ENST00000535174,;DDB1,missense_variant,p.Ile310Val,ENST00000301764,;DDB1,missense_variant,p.Ile29Val,ENST00000539739,;DDB1,intron_variant,,ENST00000450997,;DDB1,intron_variant,,ENST00000543658,;DDB1,downstream_gene_variant,,ENST00000539426,;DDB1,upstream_gene_variant,,ENST00000537877,;DDB1,upstream_gene_variant,,ENST00000535967,;DDB1,non_coding_transcript_exon_variant,,ENST00000545930,;DDB1,downstream_gene_variant,,ENST00000543162,;DDB1,missense_variant,p.Ile310Val,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000540784,;DDB1,non_coding_transcript_exon_variant,,ENST00000539712,;DDB1,downstream_gene_variant,,ENST00000537120,;	1326	132	126	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73021870	73021870	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	28	0	ENST00000263674.3:c.2187G>A	p.Glu729=	p.E729=	ENST00000263674	NM_014786.3	729	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS8221.1	2187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGGCCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,synonymous_variant,p.%3D,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,;	2537	28	32	SUCCESS
EP400	57634	.	GRCh37	12	132547123	132547123	+	synonymous_variant	Silent	SNP	G	G	A	rs150189184	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	14	107	0	ENST00000389561.2:c.8211G>A	p.Gln2737=	p.Q2737=	ENST00000389561	NM_015409.4	2737	caG/caA	0	A:0.0002	.	.	.	.	A	Q	protein_coding	YES	CCDS31929.2	8211	MUTECT|MUSE	.	CAGCAGCAGCA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	A:0.0002	ENSP00000374212	.	47/53	.	.	.	.	.	.	.	.	rs150189184	47/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,synonymous_variant,p.%3D,ENST00000389562,;EP400,synonymous_variant,p.%3D,ENST00000332482,;EP400,synonymous_variant,p.%3D,ENST00000389561,;EP400,synonymous_variant,p.%3D,ENST00000333577,;EP400,synonymous_variant,p.%3D,ENST00000330386,;	8320	107	129	SUCCESS
DENND5B	160518	.	GRCh37	12	31585991	31585991	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	38	0	ENST00000389082.5:c.2106+98T>A		p.*702*	ENST00000389082	NM_144973.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44857.1	.	MUTECT|MUSE	.	TTTTTAAAGAA	NONE	.	.	.	.	.	ENSP00000373734	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODIFIER	8/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,3_prime_UTR_variant,,ENST00000354285,;DENND5B,intron_variant,,ENST00000536562,;DENND5B,intron_variant,,ENST00000306833,;DENND5B,intron_variant,,ENST00000389082,;	.	38	42	SUCCESS
TGDS	23483	.	GRCh37	13	95248352	95248352	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	70	154	0	ENST00000261296.5:c.39C>T	p.Pro13=	p.P13=	ENST00000261296	NM_014305.2	13	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9471.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGGGAAG	NONE	.	.	.	.	.	ENSP00000261296	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000261296	Transcript	.	.	ENSG00000088451	20324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGDS_HUMAN	TGDS	HGNC	Q2TU31_HUMAN	.	UPI000006E8F4	SNV	TGDS,synonymous_variant,p.%3D,ENST00000261296,;TGDS,non_coding_transcript_exon_variant,,ENST00000498294,;	160	154	162	SUCCESS
AHNAK2	113146	.	GRCh37	14	105407441	105407441	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760249288	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	68	134	0	ENST00000333244.5:c.14347A>G	p.Ile4783Val	p.I4783V	ENST00000333244	NM_138420.2	4783	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45177.1	14347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATAGAAG	NONE	.	.	.	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs760249288	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Ile4783Val,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	14467	134	160	SUCCESS
AHNAK2	113146	.	GRCh37	14	105408464	105408464	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs377277155	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	98	0	ENST00000333244.5:c.13324A>G	p.Ser4442Gly	p.S4442G	ENST00000333244	NM_138420.2	4442	Agt/Ggt	0	A:0.0002	.	.	.	.	C	S/G	protein_coding	YES	CCDS45177.1	13324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTACTGTCCA	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs377277155	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Ser4442Gly,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	13444	98	106	SUCCESS
FERMT2	10979	.	GRCh37	14	53331148	53331148	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747430958	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	46	92	0	ENST00000341590.3:c.1573C>T	p.Arg525Cys	p.R525C	ENST00000341590	NM_006832.2	525	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45107.1	1573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCGGGGAG	NONE	.	.	Superfamily_domains:SSF47031,SMART_domains:SM00295,Pfam_domain:PF00373,Gene3D:1.20.80.10,hmmpanther:PTHR16160:SF11,hmmpanther:PTHR16160	.	.	ENSP00000342858	.	12/16	.	.	.	.	.	.	.	.	rs747430958	12/16	PASS	ENST00000343279	Transcript	.	.	ENSG00000073712	15767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	FERM2_HUMAN	FERMT2	HGNC	G3V3J0_HUMAN,G3V281_HUMAN	.	UPI00015DFD70	SNV	FERMT2,missense_variant,p.Arg525Cys,ENST00000399304,;FERMT2,missense_variant,p.Arg525Cys,ENST00000553373,;FERMT2,missense_variant,p.Arg32Cys,ENST00000553663,;FERMT2,missense_variant,p.Arg525Cys,ENST00000343279,;FERMT2,missense_variant,p.Arg478Cys,ENST00000554152,;FERMT2,missense_variant,p.Arg525Cys,ENST00000341590,;FERMT2,missense_variant,p.Arg525Cys,ENST00000395631,;FERMT2,non_coding_transcript_exon_variant,,ENST00000553768,;FERMT2,upstream_gene_variant,,ENST00000557255,;FERMT2,upstream_gene_variant,,ENST00000555546,;	1759	92	100	SUCCESS
ATP6V1D	51382	.	GRCh37	14	67826386	67826386	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs144445579	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	52	0	ENST00000216442.7:c.30del	p.Ser12ArgfsTer8	p.S12Rfs*8	ENST00000216442	NM_015994.3	10	ttT/tt	0	G:0.0002	.	.	.	.	-	F/X	protein_coding	YES	CCDS9780.1	30	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGGGAAAGAT	NONE	byCluster	.	hmmpanther:PTHR11671,TIGRFAM_domain:TIGR00309	.	G:0	ENSP00000216442	.	1/9	.	.	.	.	.	.	.	.	rs144445579	1/9	PASS	ENST00000216442	Transcript	.	.	ENSG00000100554	13527	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VATD_HUMAN	ATP6V1D	HGNC	H0YJH8_HUMAN,G3V5S7_HUMAN,G3V341_HUMAN,G3V2S6_HUMAN	.	UPI000013818E	deletion	ATP6V1D,frameshift_variant,p.Ser12ArgfsTer8,ENST00000555012,;ATP6V1D,frameshift_variant,p.Ser12ArgfsTer8,ENST00000554236,;ATP6V1D,frameshift_variant,p.Ser12ArgfsTer8,ENST00000555474,;ATP6V1D,frameshift_variant,p.Ser12ArgfsTer8,ENST00000216442,;ATP6V1D,5_prime_UTR_variant,,ENST00000553687,;ATP6V1D,5_prime_UTR_variant,,ENST00000555431,;EIF2S1,upstream_gene_variant,,ENST00000466499,;EIF2S1,upstream_gene_variant,,ENST00000557310,;EIF2S1,upstream_gene_variant,,ENST00000256383,;ATP6V1D,frameshift_variant,p.Ser12ArgfsTer8,ENST00000556058,;ATP6V1D,frameshift_variant,p.Ser12ArgfsTer8,ENST00000554087,;ATP6V1D,non_coding_transcript_exon_variant,,ENST00000555335,;ATP6V1D,non_coding_transcript_exon_variant,,ENST00000557244,;EIF2S1,upstream_gene_variant,,ENST00000556724,;	581	52	100	SUCCESS
ABCD4	5826	.	GRCh37	14	74769602	74769602	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766542727	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	129	221	1	ENST00000356924.4:c.14G>A	p.Gly5Glu	p.G5E	ENST00000356924	NM_005050.3	5	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9828.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCCCCGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11384:SF25,hmmpanther:PTHR11384	.	.	ENSP00000349396	.	1/19	.	.	.	.	.	.	.	.	rs766542727	1/19	PASS	ENST00000356924	Transcript	.	.	ENSG00000119688	68	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	ABCD4_HUMAN	ABCD4	HGNC	.	.	UPI000004C4C8	SNV	ABCD4,missense_variant,p.Gly5Glu,ENST00000557588,;ABCD4,missense_variant,p.Gly5Glu,ENST00000356924,;ABCD4,missense_variant,p.Gly5Ser,ENST00000556971,;ABCD4,5_prime_UTR_variant,,ENST00000298816,;VRTN,upstream_gene_variant,,ENST00000557177,;ABCD4,non_coding_transcript_exon_variant,,ENST00000557554,;ABCD4,non_coding_transcript_exon_variant,,ENST00000489207,;ABCD4,missense_variant,p.Gly5Glu,ENST00000460308,;ABCD4,missense_variant,p.Gly5Glu,ENST00000553745,;ABCD4,missense_variant,p.Gly5Glu,ENST00000470637,;ABCD4,missense_variant,p.Gly5Glu,ENST00000554453,;ABCD4,missense_variant,p.Gly5Glu,ENST00000556119,;ABCD4,missense_variant,p.Gly5Glu,ENST00000469672,;ABCD4,missense_variant,p.Gly5Glu,ENST00000553486,;ABCD4,missense_variant,p.Gly5Glu,ENST00000481935,;ABCD4,missense_variant,p.Gly5Glu,ENST00000555617,;ABCD4,non_coding_transcript_exon_variant,,ENST00000475240,;ABCD4,non_coding_transcript_exon_variant,,ENST00000493752,;ABCD4,non_coding_transcript_exon_variant,,ENST00000493427,;ABCD4,non_coding_transcript_exon_variant,,ENST00000477803,;ABCD4,upstream_gene_variant,,ENST00000489678,;SUB1P2,upstream_gene_variant,,ENST00000556401,;	158	223	285	SUCCESS
SNW1	22938	.	GRCh37	14	78187159	78187159	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	111	0	ENST00000261531.7:c.1143G>C	p.Gln381His	p.Q381H	ENST00000261531	NM_012245.2	381	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS9867.1	1143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCTGAAG	NONE	.	.	hmmpanther:PTHR12096	.	.	ENSP00000261531	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	tolerated(0.11)	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,missense_variant,p.Gln219His,ENST00000554775,;SNW1,missense_variant,p.Gln381His,ENST00000555761,;SNW1,missense_variant,p.Gln381His,ENST00000261531,;SLIRP,3_prime_UTR_variant,,ENST00000557623,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,downstream_gene_variant,,ENST00000557342,;SLIRP,downstream_gene_variant,,ENST00000238688,;SLIRP,downstream_gene_variant,,ENST00000556831,;SLIRP,downstream_gene_variant,,ENST00000553981,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SLIRP,intron_variant,,ENST00000556310,;SLIRP,downstream_gene_variant,,ENST00000556956,;SLIRP,downstream_gene_variant,,ENST00000555890,;	1206	111	105	SUCCESS
CEP128	145508	.	GRCh37	14	80993294	80993294	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	46	0	ENST00000281129.3:c.2991A>G	p.Gly997=	p.G997=	ENST00000281129	NM_152446.3	997	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS32130.1	2991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTTCCATC	NONE	.	.	hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	.	.	ENSP00000451162	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000555265	Transcript	.	.	ENSG00000100629	20359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE128_HUMAN	CEP128	HGNC	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN	.	UPI000022982E	SNV	CEP128,synonymous_variant,p.%3D,ENST00000555265,;CEP128,synonymous_variant,p.%3D,ENST00000556061,;CEP128,synonymous_variant,p.%3D,ENST00000281129,;CEP128,non_coding_transcript_exon_variant,,ENST00000553717,;CEP128,3_prime_UTR_variant,,ENST00000554502,;CEP128,non_coding_transcript_exon_variant,,ENST00000557377,;	3367	46	52	SUCCESS
ACAN	176	.	GRCh37	15	89401482	89401482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	43	0	ENST00000439576.2:c.5666C>T	p.Ser1889Phe	p.S1889F	ENST00000439576	NM_013227.3	1889	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS53970.1	5666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCCCAGA	NONE	.	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	.	.	ENSP00000387356	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	tolerated(0.06)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Ser1889Phe,ENST00000559004,;ACAN,missense_variant,p.Ser1889Phe,ENST00000439576,;ACAN,missense_variant,p.Ser1889Phe,ENST00000561243,;ACAN,missense_variant,p.Ser1889Phe,ENST00000352105,;ACAN,upstream_gene_variant,,ENST00000560601,;	6040	43	70	SUCCESS
SMG1	23049	.	GRCh37	16	18841439	18841439	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	44	106	0	ENST00000446231.2:c.8944-2A>G		p.X2982_splice	ENST00000446231		2982		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45430.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTATGTA	NONE	.	.	.	.	.	ENSP00000402515	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	HIGH	52/62	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,splice_acceptor_variant,,ENST00000389467,;SMG1,splice_acceptor_variant,,ENST00000565324,;SMG1,splice_acceptor_variant,,ENST00000446231,;	.	106	57	SUCCESS
NPIPB6	728741	.	GRCh37	16	28353977	28353977	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	36	0	ENST00000532254.1:c.1229T>C	p.Leu410Pro	p.L410P	ENST00000532254	NM_001282524.1	410	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS61892.1	1229	MUTECT|SOMATICSNIPER|VARSCANS	.	TTCTCAGCTTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15438	.	.	ENSP00000431871	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000532254	Transcript	.	.	ENSG00000198156	37454	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.795)	.	deleterious_low_confidence(0)	.	NPIB6_HUMAN	NPIPB6	HGNC	O60358_HUMAN	.	UPI000047D9DC	SNV	NPIPB6,missense_variant,p.Leu392Pro,ENST00000533640,;NPIPB6,missense_variant,p.Leu410Pro,ENST00000532254,;	1915	36	16	SUCCESS
SLC12A3	6559	.	GRCh37	16	56920380	56920380	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	26	0	ENST00000563236.1:c.2030T>C	p.Val677Ala	p.V677A	ENST00000563236		677	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10770.1	2030	MUTECT|MUSE	.	CCACGTGCTCA	NONE	.	.	hmmpanther:PTHR11827:SF9,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000402152	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000438926	Transcript	.	.	ENSG00000070915	10912	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.734)	.	deleterious(0)	.	S12A3_HUMAN	SLC12A3	HGNC	.	.	UPI00001FF243	SNV	SLC12A3,missense_variant,p.Val676Ala,ENST00000566786,;SLC12A3,missense_variant,p.Val677Ala,ENST00000563236,;SLC12A3,missense_variant,p.Val677Ala,ENST00000438926,;SLC12A3,missense_variant,p.Val676Ala,ENST00000262502,;	2059	26	17	SUCCESS
MTHFSD	64779	.	GRCh37	16	86582083	86582083	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	39	111	0	ENST00000360900.6:c.338G>A	p.Cys113Tyr	p.C113Y	ENST00000360900	NM_001159380.1	113	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS54047.1	338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACATTTT	NONE	.	.	hmmpanther:PTHR13017,hmmpanther:PTHR13017:SF0,Pfam_domain:PF01812,Gene3D:3.40.50.10420,Superfamily_domains:SSF100950	.	.	ENSP00000354152	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000360900	Transcript	.	.	ENSG00000103248	25778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.08)	.	MTHSD_HUMAN	MTHFSD	HGNC	H3BUU0_HUMAN,F5H0M7_HUMAN	.	UPI000059D3CD	SNV	MTHFSD,missense_variant,p.Cys107Tyr,ENST00000562940,;MTHFSD,missense_variant,p.Cys93Tyr,ENST00000564364,;MTHFSD,missense_variant,p.Cys107Tyr,ENST00000566469,;MTHFSD,missense_variant,p.Cys113Tyr,ENST00000381214,;MTHFSD,missense_variant,p.Cys112Tyr,ENST00000543303,;MTHFSD,missense_variant,p.Cys93Tyr,ENST00000561989,;MTHFSD,missense_variant,p.Cys74Tyr,ENST00000569000,;MTHFSD,missense_variant,p.Cys113Tyr,ENST00000360900,;MTHFSD,missense_variant,p.Cys112Tyr,ENST00000322911,;MTHFSD,5_prime_UTR_variant,,ENST00000546093,;MTHFSD,5_prime_UTR_variant,,ENST00000561522,;MTHFSD,5_prime_UTR_variant,,ENST00000562994,;MTHFSD,downstream_gene_variant,,ENST00000565482,;MTHFSD,non_coding_transcript_exon_variant,,ENST00000568037,;MTHFSD,downstream_gene_variant,,ENST00000561848,;MTHFSD,missense_variant,p.Cys75Tyr,ENST00000568798,;MTHFSD,3_prime_UTR_variant,,ENST00000566050,;MTHFSD,intron_variant,,ENST00000567539,;	364	111	63	SUCCESS
MYH13	8735	.	GRCh37	17	10210383	10210383	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	.	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	50	0	ENST00000252172.4:c.5170-2A>G		p.X1724_splice	ENST00000252172	NM_003802.2	1724		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45613.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTACAAG	NONE	.	.	.	.	.	ENSP00000404570	.	.	.	.	.	.	.	.	.	.	COSM386771,COSM386772	.	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	HIGH	34/40	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,splice_acceptor_variant,,ENST00000418404,;MYH13,splice_acceptor_variant,,ENST00000252172,;RP11-401O9.4,intron_variant,,ENST00000609088,;	.	50	40	SUCCESS
PRPF8	10594	.	GRCh37	17	1582362	1582362	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	52	0	ENST00000304992.6:c.1548G>T	p.Leu516=	p.L516=	ENST00000304992	NM_006445.3	516	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11010.1	1548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCAGGTA	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140,Pfam_domain:PF08083	.	.	ENSP00000460348	.	10/42	.	.	.	.	.	.	.	.	.	10/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,synonymous_variant,p.%3D,ENST00000577001,;PRPF8,synonymous_variant,p.%3D,ENST00000572621,;PRPF8,synonymous_variant,p.%3D,ENST00000304992,;PRPF8,non_coding_transcript_exon_variant,,ENST00000573716,;PRPF8,downstream_gene_variant,,ENST00000574728,;PRPF8,downstream_gene_variant,,ENST00000571346,;PRPF8,upstream_gene_variant,,ENST00000576407,;PRPF8,upstream_gene_variant,,ENST00000576958,;	1814	52	52	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14851844	14851844	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	74	203	0	ENST00000358984.4:c.3544C>A	p.Leu1182Met	p.L1182M	ENST00000358984	NM_001145029.1	1182	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS54182.1	3544	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CTAGACTGGCT	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915	.	.	ENSP00000351875	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,missense_variant,p.Leu1182Met,ENST00000358984,;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	3724	203	243	SUCCESS
PPAN	56342	.	GRCh37	19	10220893	10220893	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	95	0	ENST00000253107.7:c.793G>C	p.Ala265Pro	p.A265P	ENST00000253107	NM_020230.5	265	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS42498.1	793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGGCCCAG	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR12661,hmmpanther:PTHR12661:SF5,Pfam_domain:PF04427,SMART_domains:SM00879	.	.	ENSP00000450710	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000556468	Transcript	.	.	ENSG00000130810	9227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	SSF1_HUMAN	PPAN	HGNC	.	.	UPI000016A418	SNV	PPAN,missense_variant,p.Ala212Pro,ENST00000393793,;PPAN,missense_variant,p.Ala265Pro,ENST00000253107,;PPAN-P2RY11,missense_variant,p.Ala265Pro,ENST00000393796,;PPAN,missense_variant,p.Ala203Pro,ENST00000446223,;PPAN-P2RY11,missense_variant,p.Ala265Pro,ENST00000428358,;PPAN,missense_variant,p.Ala265Pro,ENST00000556468,;PPAN,missense_variant,p.Ala25Pro,ENST00000444703,;PPAN,downstream_gene_variant,,ENST00000430370,;P2RY11,upstream_gene_variant,,ENST00000321826,;EIF3G,downstream_gene_variant,,ENST00000593054,;EIF3G,downstream_gene_variant,,ENST00000253108,;SNORD105,downstream_gene_variant,,ENST00000386910,;SNORD105B,downstream_gene_variant,,ENST00000458770,;P2RY11,upstream_gene_variant,,ENST00000471843,;PPAN,non_coding_transcript_exon_variant,,ENST00000468881,;PPAN,non_coding_transcript_exon_variant,,ENST00000466025,;EIF3G,downstream_gene_variant,,ENST00000590158,;PPAN,upstream_gene_variant,,ENST00000486482,;	820	95	98	SUCCESS
ZNF420	147923	.	GRCh37	19	37618604	37618604	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs764798559	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	82	0	ENST00000337995.3:c.711A>C	p.Gln237His	p.Q237H	ENST00000337995	NM_144689.3	237	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS12498.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAACTTAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000338770	.	5/5	.	.	.	.	.	.	.	.	rs764798559	5/5	PASS	ENST00000337995	Transcript	.	.	ENSG00000197050	20649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	tolerated(0.86)	.	ZN420_HUMAN	ZNF420	HGNC	K7ERS3_HUMAN,K7EQC9_HUMAN,K7ELF6_HUMAN	.	UPI000007049F	SNV	ZNF420,missense_variant,p.Gln237His,ENST00000337995,;ZNF420,missense_variant,p.Gln237His,ENST00000304239,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF420,upstream_gene_variant,,ENST00000585862,;ZNF420,downstream_gene_variant,,ENST00000590332,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000589245,;CTC-454I21.4,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,;	926	82	58	SUCCESS
CYP2B6	1555	.	GRCh37	19	41497305	41497305	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	78	0	ENST00000324071.4:c.95C>T	p.Pro32Leu	p.P32L	ENST00000324071	NM_000767.4	32	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12570.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCAGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000324648	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000324071	Transcript	1	.	ENSG00000197408	2615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CP2B6_HUMAN	CYP2B6	HGNC	Q9UNX8_HUMAN,F2X1B0_HUMAN	.	UPI000012823F	SNV	CYP2B6,missense_variant,p.Pro32Leu,ENST00000324071,;CYP2B6,upstream_gene_variant,,ENST00000598834,;	102	78	81	SUCCESS
ZNF331	55422	.	GRCh37	19	54080094	54080094	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758486389	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	92	181	0	ENST00000253144.9:c.280C>A	p.Arg94Ser	p.R94S	ENST00000253144	NM_018555.5	94	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS33102.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGCTCC	NONE	byFrequency	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13	.	.	ENSP00000253144	.	7/7	.	.	.	.	.	.	.	.	rs758486389	7/7	PASS	ENST00000253144	Transcript	.	.	ENSG00000130844	15489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.6)	.	ZN331_HUMAN	ZNF331	HGNC	Q8NBU2_HUMAN,Q71QC9_HUMAN,Q71QC6_HUMAN,Q71QC5_HUMAN,Q71QC3_HUMAN,Q6PK05_HUMAN,E7EWU7_HUMAN,E7EV14_HUMAN,E7ETJ5_HUMAN,E7ERM8_HUMAN,E7EPT0_HUMAN,E7EPG5_HUMAN,E7ENR0_HUMAN,D6RH27_HUMAN	.	UPI0000039DC3	SNV	ZNF331,missense_variant,p.Arg94Ser,ENST00000505949,;ZNF331,missense_variant,p.Arg94Ser,ENST00000514374,;ZNF331,missense_variant,p.Arg94Ser,ENST00000511567,;ZNF331,missense_variant,p.Arg94Ser,ENST00000512387,;ZNF331,missense_variant,p.Arg94Ser,ENST00000511593,;ZNF331,missense_variant,p.Arg94Ser,ENST00000411977,;ZNF331,missense_variant,p.Arg94Ser,ENST00000449416,;ZNF331,missense_variant,p.Arg94Ser,ENST00000513999,;ZNF331,missense_variant,p.Arg94Ser,ENST00000514022,;ZNF331,missense_variant,p.Arg94Ser,ENST00000511154,;ZNF331,missense_variant,p.Arg94Ser,ENST00000253144,;ZNF331,missense_variant,p.Arg94Ser,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000504493,;	1613	181	193	SUCCESS
METTL18	92342	.	GRCh37	1	169761971	169761971	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	95	207	0	ENST00000303469.2:c.866T>G	p.Leu289Arg	p.L289R	ENST00000303469		289	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS1284.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGAGATCA	NONE	.	.	hmmpanther:PTHR21095,hmmpanther:PTHR21095:SF0,Gene3D:3.40.50.150,Pfam_domain:PF10294,Superfamily_domains:SSF53335	.	.	ENSP00000307975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310392	Transcript	.	.	ENSG00000171806	28793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	MET18_HUMAN	METTL18	HGNC	Q5TI78_HUMAN	.	UPI000006EC5C	SNV	METTL18,missense_variant,p.Leu289Arg,ENST00000310392,;METTL18,missense_variant,p.Leu289Arg,ENST00000303469,;C1orf112,upstream_gene_variant,,ENST00000286031,;C1orf112,upstream_gene_variant,,ENST00000456684,;C1orf112,upstream_gene_variant,,ENST00000359326,;METTL18,downstream_gene_variant,,ENST00000454472,;C1orf112,upstream_gene_variant,,ENST00000413811,;C1orf112,intron_variant,,ENST00000498289,;C1orf112,upstream_gene_variant,,ENST00000459772,;C1orf112,upstream_gene_variant,,ENST00000466580,;C1orf112,upstream_gene_variant,,ENST00000496973,;C1orf112,upstream_gene_variant,,ENST00000481744,;C1orf112,upstream_gene_variant,,ENST00000472795,;	1220	207	334	SUCCESS
KCTD3	51133	.	GRCh37	1	215768702	215768702	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	74	0	ENST00000259154.4:c.822G>A	p.Val274=	p.V274=	ENST00000259154	NM_016121.3	274	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1515.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGTTCAG	NONE	.	.	hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000259154	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000259154	Transcript	.	.	ENSG00000136636	21305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCTD3_HUMAN	KCTD3	HGNC	B4DJX2_HUMAN	.	UPI0000071A2E	SNV	KCTD3,synonymous_variant,p.%3D,ENST00000259154,;	1116	74	106	SUCCESS
USH2A	7399	.	GRCh37	1	215844383	215844383	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	54	137	1	ENST00000307340.3:c.14064A>G	p.Leu4688=	p.L4688=	ENST00000307340	NM_206933.2	4688	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31025.1	14064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATTAGGAC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	64/72	.	.	.	.	.	.	.	.	.	64/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	14451	138	220	SUCCESS
C1orf35	79169	.	GRCh37	1	228290360	228290395	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GTGGGCTGCTTCTTCACGTTCTTGTAGCCACTGCGA	GTGGGCTGCTTCTTCACGTTCTTGTAGCCACTGCGA	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	GTGGGCTGCTTCTTCACGTTCTTGTAGCCACTGCGA	GTGGGCTGCTTCTTCACGTTCTTGTAGCCACTGCGA	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	70	0	ENST00000272139.4:c.246-6_275del		p.X82_splice	ENST00000272139	NM_024319.2	82		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1566.1	?-275	VARSCANI*|PINDEL	.	AGGCCCGTGGGCTGCTTCTTCACGTTCTTGTAGCCACTGCGAGAGGG	NONE	.	.	.	.	.	ENSP00000272139	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000272139	Transcript	.	.	ENSG00000143793	19032	.	.	HIGH	2/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMTA2_HUMAN	C1orf35	HGNC	.	.	UPI000006F89B	deletion	C1orf35,splice_acceptor_variant,,ENST00000272139,;MRPL55,downstream_gene_variant,,ENST00000366746,;MRPL55,downstream_gene_variant,,ENST00000366747,;MRPL55,downstream_gene_variant,,ENST00000336300,;MRPL55,downstream_gene_variant,,ENST00000366736,;MRPL55,downstream_gene_variant,,ENST00000366733,;MRPL55,downstream_gene_variant,,ENST00000366732,;MRPL55,downstream_gene_variant,,ENST00000366731,;MRPL55,downstream_gene_variant,,ENST00000366741,;ARF1,downstream_gene_variant,,ENST00000541182,;MRPL55,downstream_gene_variant,,ENST00000366738,;MRPL55,downstream_gene_variant,,ENST00000430433,;MRPL55,downstream_gene_variant,,ENST00000391867,;MRPL55,downstream_gene_variant,,ENST00000366742,;MRPL55,downstream_gene_variant,,ENST00000366740,;MRPL55,downstream_gene_variant,,ENST00000457264,;MRPL55,downstream_gene_variant,,ENST00000336520,;ARF1,downstream_gene_variant,,ENST00000540651,;MRPL55,downstream_gene_variant,,ENST00000366734,;MRPL55,downstream_gene_variant,,ENST00000366739,;ARF1,downstream_gene_variant,,ENST00000272102,;MRPL55,downstream_gene_variant,,ENST00000366735,;MRPL55,downstream_gene_variant,,ENST00000348259,;MRPL55,downstream_gene_variant,,ENST00000366744,;MRPL55,downstream_gene_variant,,ENST00000411464,;MRPL55,downstream_gene_variant,,ENST00000295008,;C1orf35,splice_acceptor_variant,,ENST00000469781,;C1orf35,splice_acceptor_variant,,ENST00000492757,;C1orf35,splice_acceptor_variant,,ENST00000465199,;C1orf35,splice_acceptor_variant,,ENST00000491293,;C1orf35,splice_acceptor_variant,,ENST00000472617,;C1orf35,splice_acceptor_variant,,ENST00000485896,;MRPL55,downstream_gene_variant,,ENST00000465397,;ARF1,downstream_gene_variant,,ENST00000482962,;ARF1,downstream_gene_variant,,ENST00000478424,;ARF1,downstream_gene_variant,,ENST00000470670,;ARF1,downstream_gene_variant,,ENST00000469235,;ARF1,downstream_gene_variant,,ENST00000497165,;ARF1,downstream_gene_variant,,ENST00000478336,;ARF1,downstream_gene_variant,,ENST00000473949,;ARF1,downstream_gene_variant,,ENST00000477821,;ARF1,downstream_gene_variant,,ENST00000470558,;MRPL55,downstream_gene_variant,,ENST00000465268,;MRPL55,downstream_gene_variant,,ENST00000459783,;	?-510	70	65	SUCCESS
C8A	731	.	GRCh37	1	57347162	57347162	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768726327	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	68	122	1	ENST00000361249.3:c.509C>T	p.Ala170Val	p.A170V	ENST00000361249	NM_000562.2	170	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS606.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCCAGTT	BUFFER|p.D169N|c.505G>A|5	.	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF338,hmmpanther:PTHR19325	.	.	ENSP00000354458	.	5/11	.	.	.	.	.	.	.	.	rs768726327	5/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0.02)	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	SNV	C8A,missense_variant,p.Ala170Val,ENST00000361249,;	605	123	99	SUCCESS
PCSK2	5126	.	GRCh37	20	17462588	17462588	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	96	0	ENST00000262545.2:c.1790C>T	p.Ala597Val	p.A597V	ENST00000262545	NM_002594.3	597	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13125.1	1790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGCCCCGT	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	.	ENSP00000262545	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262545	Transcript	.	.	ENSG00000125851	8744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	tolerated(0.24)	.	NEC2_HUMAN	PCSK2	HGNC	Q9UM69_HUMAN	.	UPI0000000C6E	SNV	PCSK2,missense_variant,p.Ala597Val,ENST00000262545,;PCSK2,missense_variant,p.Ala578Val,ENST00000377899,;PCSK2,missense_variant,p.Ala562Val,ENST00000536609,;PCSK2,non_coding_transcript_exon_variant,,ENST00000459871,;DYNLT3P1,upstream_gene_variant,,ENST00000378574,;	2105	96	89	SUCCESS
PLTP	5360	.	GRCh37	20	44538643	44538643	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	35	88	0	ENST00000372431.3:c.267G>A	p.Met89Ile	p.M89I	ENST00000372431	NM_006227.3	89	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13386.1	267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCATCAG	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF16,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000417138	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000477313	Transcript	.	.	ENSG00000100979	9093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	PLTP_HUMAN	PLTP	HGNC	.	.	UPI0000131C7C	SNV	PLTP,start_lost,p.Met1?,ENST00000372420,;PLTP,missense_variant,p.Met89Ile,ENST00000372431,;PLTP,missense_variant,p.Met109Ile,ENST00000542937,;PLTP,missense_variant,p.Met89Ile,ENST00000477313,;PLTP,missense_variant,p.Met89Ile,ENST00000354050,;PLTP,intron_variant,,ENST00000420868,;	862	88	71	SUCCESS
DSCAM	1826	.	GRCh37	21	41551019	41551019	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	43	88	0	ENST00000400454.1:c.2782T>C	p.Ser928Pro	p.S928P	ENST00000400454	NM_001271534.1	928	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS42929.1	2782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGAGTCTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000383303	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.1)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Ser680Pro,ENST00000404019,;DSCAM,missense_variant,p.Ser928Pro,ENST00000400454,;	3260	88	117	SUCCESS
ARVCF	421	.	GRCh37	22	19965537	19965537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	46	0	ENST00000263207.3:c.1642G>T	p.Asp548Tyr	p.D548Y	ENST00000263207	NM_001670.2	548	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS13771.1	1642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTCCACCA	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF5,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000263207	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000263207	Transcript	.	.	ENSG00000099889	728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ARVC_HUMAN	ARVCF	HGNC	.	.	UPI00001260C8	SNV	ARVCF,missense_variant,p.Asp548Tyr,ENST00000263207,;ARVCF,missense_variant,p.Asp485Tyr,ENST00000406522,;ARVCF,missense_variant,p.Asp485Tyr,ENST00000344269,;ARVCF,missense_variant,p.Asp548Tyr,ENST00000406259,;ARVCF,missense_variant,p.Asp485Tyr,ENST00000401994,;ARVCF,downstream_gene_variant,,ENST00000487793,;ARVCF,downstream_gene_variant,,ENST00000462319,;ARVCF,downstream_gene_variant,,ENST00000492625,;ARVCF,downstream_gene_variant,,ENST00000467828,;ARVCF,upstream_gene_variant,,ENST00000480792,;ARVCF,non_coding_transcript_exon_variant,,ENST00000495096,;ARVCF,downstream_gene_variant,,ENST00000473551,;	1934	46	50	SUCCESS
XIRP2	129446	.	GRCh37	2	168105919	168105919	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	182	307	1	ENST00000409195.1:c.8017T>A	p.Cys2673Ser	p.C2673S	ENST00000409195	NM_152381.5	2673	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS42769.1	8017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTGCGAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Cys2451Ser,ENST00000409273,;XIRP2,missense_variant,p.Cys2673Ser,ENST00000409195,;XIRP2,missense_variant,p.Cys2673Ser,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8106	308	362	SUCCESS
KLHL41	10324	.	GRCh37	2	170371147	170371147	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374204816	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	66	95	1	ENST00000284669.1:c.1174G>A	p.Gly392Ser	p.G392S	ENST00000284669	NM_006063.2	392	Ggt/Agt	0	A:0	A:0	.	A:0	.	A	G/S	protein_coding	YES	CCDS2234.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGGTCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	A:0	A:0.0001	ENSP00000284669	A:0	2/6	.	.	.	.	.	.	.	.	rs374204816	2/6	PASS	ENST00000284669	Transcript	.	A:0.0002	ENSG00000239474	16905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.684)	A:0.001	tolerated(0.39)	.	KLH41_HUMAN	KLHL41	HGNC	.	.	UPI0000000DC5	SNV	BBS5,missense_variant,p.Gly330Ser,ENST00000554017,;KLHL41,missense_variant,p.Gly392Ser,ENST00000284669,;RP11-724O16.1,missense_variant,p.Gly330Ser,ENST00000513963,;KLHL41,non_coding_transcript_exon_variant,,ENST00000480330,;KLHL41,non_coding_transcript_exon_variant,,ENST00000463400,;	1251	96	130	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098804	178098804	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	65	0	ENST00000397062.3:c.241G>T	p.Gly81Cys	p.G81C	ENST00000397062	NM_006164.4	81	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS42782.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCTGTCT	SITE|p.G81C|c.241G>T|3,CODON|p.G81D|c.242G>A|6,CODON|p.G81V|c.242G>T|7,BUFFER|p.E82D|c.246A>C|3,BUFFER|p.E82D|c.246A>T|6,BUFFER|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11,BUFFER|p.D77V|c.230A>T|5,BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM1009929,COSM717624	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Ala65Ser,ENST00000449627,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000423513,;NFE2L2,missense_variant,p.Gly81Cys,ENST00000397062,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000446151,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000588123,;NFE2L2,missense_variant,p.Gly80Cys,ENST00000586532,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000421929,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000464747,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000448782,;NFE2L2,missense_variant,p.Gly65Cys,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	796	65	79	SUCCESS
GULP1	51454	.	GRCh37	2	189434772	189434772	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	326	155	365	0	ENST00000359135.3:c.534A>G	p.Thr178=	p.T178=	ENST00000359135		178	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2295.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACAGAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11232:SF31,hmmpanther:PTHR11232,Gene3D:1.20.5.170	.	.	ENSP00000386289	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000409580	Transcript	.	.	ENSG00000144366	18649	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GULP1_HUMAN	GULP1	HGNC	B8ZZL1_HUMAN	.	UPI0000031CE3	SNV	GULP1,synonymous_variant,p.%3D,ENST00000451191,;GULP1,synonymous_variant,p.%3D,ENST00000409805,;GULP1,synonymous_variant,p.%3D,ENST00000409609,;GULP1,synonymous_variant,p.%3D,ENST00000359135,;GULP1,synonymous_variant,p.%3D,ENST00000409830,;GULP1,synonymous_variant,p.%3D,ENST00000409843,;GULP1,synonymous_variant,p.%3D,ENST00000409580,;GULP1,upstream_gene_variant,,ENST00000433052,;GULP1,non_coding_transcript_exon_variant,,ENST00000467422,;GULP1,non_coding_transcript_exon_variant,,ENST00000495745,;GULP1,non_coding_transcript_exon_variant,,ENST00000478306,;GULP1,non_coding_transcript_exon_variant,,ENST00000476422,;	1248	365	482	SUCCESS
FN1	2335	.	GRCh37	2	216299510	216299513	+	frameshift_variant	Frame_Shift_Del	DEL	ATTT	ATTT	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	ATTT	ATTT	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	82	0	ENST00000359671.1:c.183_186del	p.Gln63SerfsTer7	p.Q63Sfs*7	ENST00000359671		61	atAAAT/at	0	.	.	.	.	.	-	IN/X	protein_coding	YES	CCDS42814.1	183-186	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTTGATTTATCTG	NONE	.	.	PROSITE_profiles:PS51091,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,PROSITE_patterns:PS01253,Pfam_domain:PF00039,Gene3D:2.10.70.10,SMART_domains:SM00058,Superfamily_domains:SSF57603	.	.	ENSP00000346839	.	2/46	.	.	.	.	.	.	.	.	.	2/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	deletion	FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000357867,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000432072,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000421182,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000443816,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000346544,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000345488,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000354785,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000426059,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000336916,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000359671,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000357009,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000446046,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000323926,;FN1,frameshift_variant,p.Gln63SerfsTer7,ENST00000356005,;AC012462.1,upstream_gene_variant,,ENST00000412951,;	553-556	82	69	SUCCESS
SLC4A3	6508	.	GRCh37	2	220493162	220493162	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	88	185	0	ENST00000317151.3:c.87A>T	p.Pro29=	p.P29=	ENST00000317151		29	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2446.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCAGACGT	NONE	.	.	.	.	.	ENSP00000362867	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,synonymous_variant,p.%3D,ENST00000373760,;SLC4A3,synonymous_variant,p.%3D,ENST00000273063,;SLC4A3,synonymous_variant,p.%3D,ENST00000317151,;SLC4A3,synonymous_variant,p.%3D,ENST00000358055,;SLC4A3,synonymous_variant,p.%3D,ENST00000373762,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.8,upstream_gene_variant,,ENST00000455896,;SLC4A3,upstream_gene_variant,,ENST00000497589,;SLC4A3,synonymous_variant,p.%3D,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	356	185	204	SUCCESS
EML4	27436	.	GRCh37	2	42557132	42557132	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	45	95	0	ENST00000318522.5:c.2731G>A	p.Glu911Lys	p.E911K	ENST00000318522	NM_019063.3	911	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1807.1	2731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGAAGAG	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11	.	.	ENSP00000320663	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000318522	Transcript	.	.	ENSG00000143924	1316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated_low_confidence(0.55)	.	EMAL4_HUMAN	EML4	HGNC	F2Z2B5_HUMAN	.	UPI0000140350	SNV	EML4,missense_variant,p.Glu922Lys,ENST00000401738,;EML4,missense_variant,p.Glu911Lys,ENST00000318522,;EML4,missense_variant,p.Glu175Lys,ENST00000453191,;EML4,missense_variant,p.Glu853Lys,ENST00000402711,;COX7A2L,downstream_gene_variant,,ENST00000468711,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;	2993	95	99	SUCCESS
ACAD11	84129	.	GRCh37	3	132337613	132337613	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	219	87	182	0	ENST00000264990.6:c.1279del	p.Met427TrpfsTer25	p.M427Wfs*25	ENST00000264990	NM_032169.4	427	Atg/tg	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS3074.1	1279	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCCATTTCCT	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF195,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645	.	.	ENSP00000264990	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	deletion	ACAD11,frameshift_variant,p.Met427TrpfsTer25,ENST00000481970,;ACAD11,frameshift_variant,p.Met427TrpfsTer25,ENST00000264990,;ACAD11,frameshift_variant,p.Met427TrpfsTer25,ENST00000355458,;ACAD11,intron_variant,,ENST00000545291,;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;ACKR4,3_prime_UTR_variant,,ENST00000509820,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000487024,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,intron_variant,,ENST00000485198,;ACAD11,upstream_gene_variant,,ENST00000510100,;	2251	182	306	SUCCESS
NLGN1	22871	.	GRCh37	3	173996998	173996998	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371578371	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	64	151	0	ENST00000457714.1:c.1207G>A	p.Asp403Asn	p.D403N	ENST00000457714	NM_014932.3	403	Gat/Aat	0	A:0	.	.	.	.	A	D/N	protein_coding	YES	CCDS3222.1	1207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCGATGAT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	A:0.0001	ENSP00000392500	.	6/7	.	.	.	.	.	.	.	.	rs371578371	6/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.16)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Asp443Asn,ENST00000401917,;NLGN1,missense_variant,p.Asp403Asn,ENST00000457714,;NLGN1,missense_variant,p.Asp403Asn,ENST00000361589,;NLGN1,missense_variant,p.Asp403Asn,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;NLGN1,downstream_gene_variant,,ENST00000469727,;	1636	151	154	SUCCESS
MUC4	4585	.	GRCh37	3	195512150	195512150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	311	46	267	0	ENST00000463781.3:c.6301G>T	p.Asp2101Tyr	p.D2101Y	ENST00000463781	NM_018406.6	2101	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54700.1	6301	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCGGTGA	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Asp2101Tyr,ENST00000475231,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000477086,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000466475,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000478156,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000470451,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000479406,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000477756,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000462323,;MUC4,missense_variant,p.Asp2101Tyr,ENST00000480843,;	6761	267	357	SUCCESS
THRB	7068	.	GRCh37	3	24174928	24174928	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1385080780	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	58	137	1	ENST00000356447.4:c.764T>C	p.Ile255Thr	p.I255T	ENST00000356447	NM_001128177.1	255	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2641.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTATTGGT	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF210,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000379904	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000396671	Transcript	.	.	ENSG00000151090	11799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.43)	.	THB_HUMAN	THRB	HGNC	J3KR21_HUMAN,F1D8N7_HUMAN,C9JZS5_HUMAN,C9JTN1_HUMAN,C9JNQ4_HUMAN,C9JJM3_HUMAN,C9JHC2_HUMAN	.	UPI0000136D26	SNV	THRB,missense_variant,p.Ile255Thr,ENST00000396671,;THRB,missense_variant,p.Ile255Thr,ENST00000416420,;THRB,missense_variant,p.Ile255Thr,ENST00000356447,;THRB,missense_variant,p.Ile270Thr,ENST00000280696,;	1113	138	159	SUCCESS
LARS2	23395	.	GRCh37	3	45557708	45557708	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs914797921	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	58	151	0	ENST00000265537.3:c.1984A>G	p.Ile662Val	p.I662V	ENST00000265537	NM_015340.3	662	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2728.1	1984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGATTCGG	NONE	.	.	hmmpanther:PTHR11946:SF7,hmmpanther:PTHR11946,TIGRFAM_domain:TIGR00396,Gene3D:3.40.50.620,Pfam_domain:PF00133,Superfamily_domains:SSF52374	.	.	ENSP00000408576	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000415258	Transcript	.	.	ENSG00000011376	17095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.49)	.	SYLM_HUMAN	LARS2	HGNC	Q9BQR0_HUMAN,C9JYR8_HUMAN	.	UPI0000001297	SNV	LARS2,missense_variant,p.Ile619Val,ENST00000414984,;LARS2,missense_variant,p.Ile662Val,ENST00000265537,;LARS2,missense_variant,p.Ile662Val,ENST00000415258,;LARS2,non_coding_transcript_exon_variant,,ENST00000467936,;LARS2,upstream_gene_variant,,ENST00000485461,;	2125	151	164	SUCCESS
CACNA2D2	9254	.	GRCh37	3	50403525	50403525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764694236	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	84	0	ENST00000479441.1:c.2800C>T	p.Arg934Cys	p.R934C	ENST00000479441		934	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS54588.1	2800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGGGTGT	NONE	byFrequency	.	hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166	.	.	ENSP00000418081	.	33/39	.	.	.	.	.	.	.	.	rs764694236,COSM4118775	33/39	PASS	ENST00000479441	Transcript	.	.	ENSG00000007402	1400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.857)	.	tolerated(0.18)	0,1	CA2D2_HUMAN	CACNA2D2	HGNC	.	.	UPI0000E5A6AF	SNV	CACNA2D2,missense_variant,p.Arg858Cys,ENST00000360963,;CACNA2D2,missense_variant,p.Arg934Cys,ENST00000435965,;CACNA2D2,missense_variant,p.Arg927Cys,ENST00000266039,;CACNA2D2,missense_variant,p.Arg928Cys,ENST00000429770,;CACNA2D2,missense_variant,p.Arg927Cys,ENST00000424201,;CACNA2D2,missense_variant,p.Arg935Cys,ENST00000423994,;CACNA2D2,missense_variant,p.Arg934Cys,ENST00000479441,;CACNA2D2,missense_variant,p.Arg927Cys,ENST00000395083,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;XXcos-LUCA11.4,intron_variant,,ENST00000606665,;XXcos-LUCA11.4,intron_variant,,ENST00000607583,;XXcos-LUCA11.4,intron_variant,,ENST00000607121,;XXcos-LUCA11.4,intron_variant,,ENST00000606259,;XXcos-LUCA11.4,upstream_gene_variant,,ENST00000607362,;XXcos-LUCA11.4,upstream_gene_variant,,ENST00000607088,;CACNA2D2,upstream_gene_variant,,ENST00000483620,;	2800	84	73	SUCCESS
DOCK3	1795	.	GRCh37	3	51418626	51418626	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781974113	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	41	69	0	ENST00000266037.9:c.5729G>A	p.Arg1910His	p.R1910H	ENST00000266037	NM_004947.4	1910	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS46835.1	5729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGCACTG	NONE	.	.	.	.	.	ENSP00000266037	.	53/53	.	.	.	.	.	.	.	.	rs781974113,COSM4118836,COSM4118835	53/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.998)	.	tolerated_low_confidence(0.08)	0,1,1	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,missense_variant,p.Arg1910His,ENST00000266037,;MANF,upstream_gene_variant,,ENST00000528157,;MANF,upstream_gene_variant,,ENST00000470900,;MANF,upstream_gene_variant,,ENST00000446668,;	5752	69	94	SUCCESS
FAM208A	0	.	GRCh37	3	56674029	56674029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	26	96	0	ENST00000493960.2:c.2749C>A	p.Leu917Met	p.L917M	ENST00000493960	NM_001112736.1	917	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS46853.1	2749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCAGTTTCC	NONE	.	.	hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Leu917Met,ENST00000355628,;FAM208A,missense_variant,p.Leu917Met,ENST00000493960,;FAM208A,missense_variant,p.Leu521Met,ENST00000431842,;	2760	96	134	SUCCESS
RYBP	23429	.	GRCh37	3	72427650	72427650	+	synonymous_variant	Silent	SNP	T	T	A	rs774285216	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	48	122	0	ENST00000477973.2:c.840A>T	p.Ala280=	p.A280=	ENST00000477973	NM_012234.5	280	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	.	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCTGCACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12920,hmmpanther:PTHR12920:SF3	.	.	ENSP00000419494	.	4/4	.	.	.	.	.	.	.	.	rs774285216	4/4	PASS	ENST00000477973	Transcript	.	.	ENSG00000163602	10480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYBP_HUMAN	RYBP	HGNC	.	.	UPI0001B794AD	SNV	RYBP,synonymous_variant,p.%3D,ENST00000477973,;	838	122	124	SUCCESS
TET2	54790	.	GRCh37	4	106163843	106163843	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	61	125	0	ENST00000380013.4:c.3501-148G>A		p.*1167*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGCGTAG	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000413648,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000513237,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000265149,;	.	125	113	SUCCESS
CRMP1	1400	.	GRCh37	4	5841321	5841321	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776501083	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	58	0	ENST00000397890.2:c.896C>A	p.Ala299Glu	p.A299E	ENST00000397890	NM_001313.3	299	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS33950.1	1238	RADIA|MUTECT|MUSE	.	ACGCCGCAGCC	NONE	byFrequency	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:3.20.20.140,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	.	ENSP00000321606	.	9/14	.	.	.	.	.	.	.	.	rs776501083	9/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	SNV	CRMP1,missense_variant,p.Ala297Glu,ENST00000512574,;CRMP1,missense_variant,p.Ala413Glu,ENST00000324989,;CRMP1,missense_variant,p.Ala299Glu,ENST00000397890,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	1327	58	63	SUCCESS
CRMP1	1400	.	GRCh37	4	5841322	5841322	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	59	0	ENST00000397890.2:c.895G>A	p.Ala299Thr	p.A299T	ENST00000397890	NM_001313.3	299	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33950.1	1237	RADIA|MUTECT|MUSE	.	CGCCGCAGCCT	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:3.20.20.140,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	.	ENSP00000321606	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000324989	Transcript	.	.	ENSG00000072832	2365	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.173)	.	deleterious(0.01)	.	DPYL1_HUMAN	CRMP1	HGNC	Q96I11_HUMAN,B3KT07_HUMAN	.	UPI000020BA92	SNV	CRMP1,missense_variant,p.Ala297Thr,ENST00000512574,;CRMP1,missense_variant,p.Ala413Thr,ENST00000324989,;CRMP1,missense_variant,p.Ala299Thr,ENST00000397890,;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	1326	59	63	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140735877	140735877	+	synonymous_variant	Silent	SNP	C	C	T	rs1396473104	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	79	0	ENST00000571252.1:c.1110C>T	p.Asn370=	p.N370=	ENST00000571252	NM_018917.2	370	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS58979.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAACGTGCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	SNV	PCDHGA4,synonymous_variant,p.%3D,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	1110	79	105	SUCCESS
CD164	8763	.	GRCh37	6	109703622	109703622	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs190842782	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	8	0	ENST00000310786.4:c.-41C>G		p.*14*	ENST00000310786	NM_001142404.1			0	A:0.0005	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS5073.1	.	MUTECT|MUSE	.	GGCTCGCAACG	NONE	byFrequency|byCluster|by1000G	.	.	C:0.0526	A:0	ENSP00000309376	C:0	1/6	.	.	.	.	.	.	.	.	rs190842782	1/6	common_in_exac	ENST00000310786	Transcript	.	C:0.0116	ENSG00000135535	1632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.0051	.	.	MUC24_HUMAN	CD164	HGNC	.	.	UPI000006EB36	SNV	CD164,5_prime_UTR_variant,,ENST00000368961,;CD164,5_prime_UTR_variant,,ENST00000310786,;CD164,5_prime_UTR_variant,,ENST00000275080,;CD164,5_prime_UTR_variant,,ENST00000413644,;CD164,5_prime_UTR_variant,,ENST00000324953,;CD164,upstream_gene_variant,,ENST00000504373,;CD164,upstream_gene_variant,,ENST00000512821,;RP11-425D10.10,upstream_gene_variant,,ENST00000563105,;CD164,upstream_gene_variant,,ENST00000506649,;CD164,upstream_gene_variant,,ENST00000512212,;CD164,upstream_gene_variant,,ENST00000499860,;	26	8	10	SUCCESS
ERVFRD-1	405754	.	GRCh37	6	11104810	11104810	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558720062	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	57	0	ENST00000472091.1:c.734G>A	p.Gly245Glu	p.G245E	ENST00000472091	NM_207582.2	245	gGa/gAa	0	.	T:0	.	T:0	.	T	G/E	protein_coding	YES	CCDS4519.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTCCCTTG	NONE	by1000G	.	hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF44	T:0.001	.	ENSP00000420174	T:0	2/2	.	.	.	.	.	.	.	.	rs558720062,rs773537004	2/2	PASS	ENST00000472091	Transcript	.	T:0.0002	ENSG00000244476	33823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	T:0	deleterious(0.04)	.	EFRD1_HUMAN	ERVFRD-1	HGNC	Q8NC12_HUMAN	.	UPI00001C0961	SNV	ERVFRD-1,missense_variant,p.Gly245Glu,ENST00000542862,;ERVFRD-1,missense_variant,p.Gly245Glu,ENST00000472091,;SMIM13,intron_variant,,ENST00000416247,;SMIM13,intron_variant,,ENST00000376935,;	1110	57	57	SUCCESS
OR5V1	81696	.	GRCh37	6	29323627	29323627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	112	0	ENST00000377154.1:c.346G>T	p.Ala116Ser	p.A116S	ENST00000377154		116	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS4657.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCAGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF0,hmmpanther:PTHR26453,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366359	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377154	Transcript	.	.	ENSG00000243729	13972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	tolerated(0.08)	.	OR5V1_HUMAN	OR5V1	HGNC	.	.	UPI000004186B	SNV	OR5V1,missense_variant,p.Ala116Ser,ENST00000543825,;OR5V1,missense_variant,p.Ala116Ser,ENST00000377154,;	646	112	118	SUCCESS
EHMT2	10919	.	GRCh37	6	31855974	31855974	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	56	112	0	ENST00000375537.4:c.1589del	p.Met530ArgfsTer17	p.M530Rfs*17	ENST00000375537	NM_006709.3	530	aTg/ag	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS4725.1	1589	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGACCATCCCA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306	.	.	ENSP00000364687	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000375537	Transcript	.	.	ENSG00000204371	14129	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EHMT2_HUMAN	EHMT2	HGNC	.	.	UPI000013D085	deletion	EHMT2,frameshift_variant,p.Met530ArgfsTer17,ENST00000375537,;EHMT2,frameshift_variant,p.Met553ArgfsTer17,ENST00000375528,;EHMT2,frameshift_variant,p.Met587ArgfsTer17,ENST00000395728,;EHMT2,frameshift_variant,p.Met496ArgfsTer17,ENST00000375530,;EHMT2,upstream_gene_variant,,ENST00000436026,;EHMT2-AS1,downstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,upstream_gene_variant,,ENST00000478491,;EHMT2,upstream_gene_variant,,ENST00000477678,;EHMT2,upstream_gene_variant,,ENST00000461880,;EHMT2,downstream_gene_variant,,ENST00000463484,;EHMT2,upstream_gene_variant,,ENST00000494816,;	1596	112	182	SUCCESS
TAPBP	6892	.	GRCh37	6	33271973	33271973	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	49	83	1	ENST00000426633.2:c.1232A>G	p.Glu411Gly	p.E411G	ENST00000426633	NM_172208.2	411	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS34428.2	1232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTCAAGG	NONE	.	.	Prints_domain:PR01669,hmmpanther:PTHR23411:SF5,hmmpanther:PTHR23411	.	.	ENSP00000404833	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000426633	Transcript	.	.	ENSG00000231925	11566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	TAPBP	HGNC	.	.	UPI0000E5AD4C	SNV	TAPBP,missense_variant,p.Glu324Gly,ENST00000489157,;TAPBP,missense_variant,p.Glu411Gly,ENST00000456592,;TAPBP,missense_variant,p.Glu411Gly,ENST00000426633,;TAPBP,missense_variant,p.Glu429Gly,ENST00000475304,;TAPBP,missense_variant,p.Glu411Gly,ENST00000434618,;TAPBP,downstream_gene_variant,,ENST00000467025,;RGL2,upstream_gene_variant,,ENST00000497454,;TAPBP,non_coding_transcript_exon_variant,,ENST00000480730,;TAPBP,downstream_gene_variant,,ENST00000437116,;	1403	84	107	SUCCESS
PI16	221476	.	GRCh37	6	36930828	36930828	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	68	130	0	ENST00000373674.3:c.710C>A	p.Ala237Glu	p.A237E	ENST00000373674	NM_153370.2	237	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS34440.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGCAACGG	NONE	.	.	.	.	.	ENSP00000362778	.	5/7	.	.	.	.	.	.	.	.	COSM1236627	5/7	PASS	ENST00000373674	Transcript	.	.	ENSG00000164530	21245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.691)	.	deleterious(0.01)	1	PI16_HUMAN	PI16	HGNC	B4DXZ3_HUMAN	.	UPI000004C657	SNV	PI16,missense_variant,p.Ala237Glu,ENST00000373674,;PI16,intron_variant,,ENST00000491324,;	1038	130	142	SUCCESS
PRICKLE4	29964	.	GRCh37	6	41751951	41751951	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	84	0	ENST00000359201.5:c.215A>T	p.Gln72Leu	p.Q72L	ENST00000359201		72	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS34449.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCAAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51303,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF34,Pfam_domain:PF06297	.	.	ENSP00000404911	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000458694	Transcript	.	.	ENSG00000124593	16805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.527)	.	deleterious(0.01)	.	PRIC4_HUMAN	PRICKLE4	HGNC	.	.	UPI000020DCD5	SNV	PRICKLE4,missense_variant,p.Gln72Leu,ENST00000394263,;PRICKLE4,missense_variant,p.Gln72Leu,ENST00000359201,;PRICKLE4,missense_variant,p.Gln32Leu,ENST00000394260,;PRICKLE4,missense_variant,p.Gln32Leu,ENST00000394259,;PRICKLE4,missense_variant,p.Gln72Leu,ENST00000458694,;FRS3,intron_variant,,ENST00000422888,;TOMM6,upstream_gene_variant,,ENST00000398881,;FRS3,upstream_gene_variant,,ENST00000373018,;FRS3,upstream_gene_variant,,ENST00000426290,;TOMM6,upstream_gene_variant,,ENST00000398884,;PRICKLE4,upstream_gene_variant,,ENST00000463606,;PRICKLE4,missense_variant,p.Gln72Leu,ENST00000335515,;PRICKLE4,3_prime_UTR_variant,,ENST00000456057,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000487182,;PRICKLE4,upstream_gene_variant,,ENST00000483200,;	463	84	93	SUCCESS
MCM3	4172	.	GRCh37	6	52141926	52141940	+	inframe_deletion	In_Frame_Del	DEL	GGTGGGGATAGCTCG	GGTGGGGATAGCTCG	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	GGTGGGGATAGCTCG	GGTGGGGATAGCTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	61	0	ENST00000229854.7:c.1090_1104del	p.Arg364_Thr368del	p.R364_T368del	ENST00000229854		364	CGAGCTATCCCCACC/-	0	.	.	.	.	.	-	RAIPT/-	protein_coding	YES	CCDS4940.2	1225-1239	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGTGGTGGGGATAGCTCGGGGTG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00350,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,PROSITE_profiles:PS50051	.	.	ENSP00000472940	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000596288	Transcript	.	.	ENSG00000112118	6945	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MCM3	HGNC	Q8NHX6_HUMAN,B4DWW4_HUMAN	.	UPI0000EE4F08	deletion	MCM3,inframe_deletion,p.Arg318_Thr322del,ENST00000419835,;MCM3,inframe_deletion,p.Arg364_Thr368del,ENST00000229854,;MCM3,inframe_deletion,p.Arg409_Thr413del,ENST00000596288,;MCM3,upstream_gene_variant,,ENST00000421471,;MCM3,non_coding_transcript_exon_variant,,ENST00000476448,;MCM3,downstream_gene_variant,,ENST00000596983,;	1253-1267	61	63	SUCCESS
DST	667	.	GRCh37	6	56480983	56480983	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	32	84	0	ENST00000244364.6:c.3319-1701del		p.*1107*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47443.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCTGTAAGTG	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	22/83	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	deletion	DST,frameshift_variant,p.Thr2428GlnfsTer8,ENST00000370765,;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000522360,;	.	84	123	SUCCESS
KIAA1586	57691	.	GRCh37	6	56911480	56911480	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	58	102	0	ENST00000370733.4:c.-74G>T		p.*25*	ENST00000370733	NM_020931.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34480.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGGAAGG	NONE	.	.	.	.	.	ENSP00000359768	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000370733	Transcript	.	.	ENSG00000168116	21360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1586_HUMAN	KIAA1586	HGNC	.	.	UPI0000074573	SNV	KIAA1586,5_prime_UTR_variant,,ENST00000370733,;KIAA1586,upstream_gene_variant,,ENST00000545356,;KIAA1586,upstream_gene_variant,,ENST00000488682,;	134	102	125	SUCCESS
NAA38	84316	.	GRCh37	7	117824204	117824204	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	127	0	ENST00000249299.2:c.-74G>A		p.*25*	ENST00000249299	NM_016200.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5775.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGGGTTCT	NONE	.	.	.	.	.	ENSP00000249299	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	SNV	NAA38,5_prime_UTR_variant,,ENST00000249299,;NAA38,5_prime_UTR_variant,,ENST00000424702,;NAA38,upstream_gene_variant,,ENST00000411938,;NAA38,upstream_gene_variant,,ENST00000422760,;	119	127	122	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146829391	146829391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751589771	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	75	0	ENST00000361727.3:c.1138G>A	p.Ala380Thr	p.A380T	ENST00000361727	NM_014141.5	380	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5889.1	1138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGCTACA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000354778	.	8/24	.	.	.	.	.	.	.	.	rs751589771,COSM1329991	8/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.028)	.	tolerated(0.07)	0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,missense_variant,p.Ala380Thr,ENST00000361727,;	1654	75	103	SUCCESS
ABCB4	5244	.	GRCh37	7	87074258	87074258	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1487551764	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1014	794	1604	1	ENST00000265723.4:c.1039G>A	p.Val347Ile	p.V347I	ENST00000265723	NM_000443.3	347	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS5606.1	1039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAACACTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265723	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000265723	Transcript	.	.	ENSG00000005471	45	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.91)	.	MDR3_HUMAN	ABCB4	HGNC	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN	.	UPI000013D66B	SNV	ABCB4,missense_variant,p.Val347Ile,ENST00000453593,;ABCB4,missense_variant,p.Val347Ile,ENST00000265723,;ABCB4,missense_variant,p.Val347Ile,ENST00000358400,;ABCB4,missense_variant,p.Val347Ile,ENST00000545634,;ABCB4,missense_variant,p.Val347Ile,ENST00000359206,;	1151	1605	1809	SUCCESS
SAMD9	54809	.	GRCh37	7	92731597	92731597	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	66	207	0	ENST00000379958.2:c.3814G>T	p.Asp1272Tyr	p.D1272Y	ENST00000379958	NM_017654.3	1272	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34680.1	3814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCAAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Asp1272Tyr,ENST00000446617,;SAMD9,missense_variant,p.Asp1272Tyr,ENST00000379958,;	4084	207	176	SUCCESS
LZTS1	11178	.	GRCh37	8	20112506	20112506	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	108	0	ENST00000265801.6:c.187G>A	p.Glu63Lys	p.E63K	ENST00000265801	NM_021020.2	63	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6015.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCGCTCT	NONE	.	.	hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354	.	.	ENSP00000370981	.	2/4	.	.	.	.	.	.	.	.	COSM1097902	2/4	PASS	ENST00000381569	Transcript	1	.	ENSG00000061337	13861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.991)	.	deleterious(0.03)	1	LZTS1_HUMAN	LZTS1	HGNC	.	.	UPI000006DEE8	SNV	LZTS1,missense_variant,p.Glu63Lys,ENST00000522290,;LZTS1,missense_variant,p.Glu63Lys,ENST00000381569,;LZTS1,missense_variant,p.Glu63Lys,ENST00000265801,;	545	108	86	SUCCESS
ERLIN2	11160	.	GRCh37	8	37611633	37611633	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	45	81	0	ENST00000276461.5:c.*6del		p.*340fs	ENST00000276461	NM_007175.6	340	tgA/tg	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS6095.1	1020	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATTGAAAAAA	NONE	.	.	.	.	.	ENSP00000276461	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000276461	Transcript	1	.	ENSG00000147475	1356	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERLN2_HUMAN	ERLIN2	HGNC	E5RHW4_HUMAN	.	UPI0000073DE1	deletion	ERLIN2,frameshift_variant,,ENST00000276461,;ERLIN2,frameshift_variant,,ENST00000519638,;ERLIN2,downstream_gene_variant,,ENST00000518526,;ERLIN2,downstream_gene_variant,,ENST00000521644,;ERLIN2,downstream_gene_variant,,ENST00000521993,;	1087	81	162	SUCCESS
FIBCD1	84929	.	GRCh37	9	133799154	133799154	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369690143	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	40	105	0	ENST00000372338.4:c.826C>A	p.Arg276Ser	p.R276S	ENST00000372338	NM_032843.4	276	Cgc/Agc	0	A:0	.	.	.	.	T	R/S	protein_coding	YES	CCDS6937.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCGCATGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF45,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	A:0.0001	ENSP00000361413	.	4/7	.	.	.	.	.	.	.	.	rs369690143	4/7	PASS	ENST00000372338	Transcript	.	.	ENSG00000130720	25922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.81)	.	FBCD1_HUMAN	FIBCD1	HGNC	A7YSM1_HUMAN,A3KFJ8_HUMAN	.	UPI0000049DF9	SNV	FIBCD1,missense_variant,p.Arg276Ser,ENST00000451466,;FIBCD1,missense_variant,p.Arg276Ser,ENST00000448616,;FIBCD1,missense_variant,p.Arg118Ser,ENST00000372337,;FIBCD1,missense_variant,p.Arg276Ser,ENST00000372338,;FIBCD1,missense_variant,p.Arg230Ser,ENST00000444139,;FIBCD1,missense_variant,p.Arg118Ser,ENST00000253018,;	1069	105	119	SUCCESS
FAM163B	642968	.	GRCh37	9	136444248	136444248	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	40	77	0	ENST00000356873.3:c.397C>T	p.Leu133=	p.L133=	ENST00000356873	NM_001080515.2	133	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS35171.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGCTCCA	NONE	.	.	hmmpanther:PTHR31396,Pfam_domain:PF15069	.	.	ENSP00000419867	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000496132	Transcript	.	.	ENSG00000196990	33277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F163B_HUMAN	FAM163B	HGNC	.	.	UPI00004577D5	SNV	FAM163B,synonymous_variant,p.%3D,ENST00000356873,;FAM163B,synonymous_variant,p.%3D,ENST00000496132,;ADAMTSL2,downstream_gene_variant,,ENST00000354484,;ADAMTSL2,downstream_gene_variant,,ENST00000393060,;ADAMTSL2,downstream_gene_variant,,ENST00000393061,;	642	77	111	SUCCESS
PHPT1	29085	.	GRCh37	9	139744507	139744507	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751950321	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	70	0	ENST00000247665.10:c.203G>T	p.Gly68Val	p.G68V	ENST00000247665	NM_014172.4	68	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7009.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGCTGCG	NONE	.	.	hmmpanther:PTHR12258,hmmpanther:PTHR12258:SF10,Pfam_domain:PF05005,Superfamily_domains:SSF143724	.	.	ENSP00000247665	.	2/3	.	.	.	.	.	.	.	.	rs751950321	2/3	PASS	ENST00000247665	Transcript	.	.	ENSG00000054148	30033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	PHP14_HUMAN	PHPT1	HGNC	.	.	UPI0000034027	SNV	PHPT1,missense_variant,p.Gly68Val,ENST00000545326,;PHPT1,missense_variant,p.Gly68Val,ENST00000371661,;PHPT1,missense_variant,p.Gly68Val,ENST00000247665,;C9orf172,downstream_gene_variant,,ENST00000436881,;MAMDC4,upstream_gene_variant,,ENST00000445819,;MAMDC4,upstream_gene_variant,,ENST00000317446,;PHPT1,non_coding_transcript_exon_variant,,ENST00000497413,;PHPT1,non_coding_transcript_exon_variant,,ENST00000462205,;PHPT1,non_coding_transcript_exon_variant,,ENST00000463215,;PHPT1,non_coding_transcript_exon_variant,,ENST00000492540,;MAMDC4,upstream_gene_variant,,ENST00000485732,;	540	70	81	SUCCESS
SLC24A2	25769	.	GRCh37	9	19786033	19786033	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1267656135	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	89	0	ENST00000341998.2:c.832G>A	p.Val278Ile	p.V278I	ENST00000341998	NM_001193288.2	278	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS6493.1	832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACCACAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000344801	.	1/10	.	.	.	.	.	.	.	.	COSM338104	1/10	PASS	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(1)	1	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,missense_variant,p.Val278Ile,ENST00000341998,;SLC24A2,missense_variant,p.Val278Ile,ENST00000286344,;	894	89	121	SUCCESS
ACO1	48	.	GRCh37	9	32430520	32430520	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	75	135	0	ENST00000309951.6:c.1674A>T	p.Ile558=	p.I558=	ENST00000309951	NM_002197.2	558	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS6525.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATAGCATA	NONE	.	.	hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Gene3D:3.30.499.10,Superfamily_domains:SSF53732	.	.	ENSP00000309477	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000309951	Transcript	.	.	ENSG00000122729	117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOC_HUMAN	ACO1	HGNC	Q9HBB2_HUMAN	.	UPI000012D87E	SNV	ACO1,synonymous_variant,p.%3D,ENST00000379923,;ACO1,synonymous_variant,p.%3D,ENST00000309951,;ACO1,synonymous_variant,p.%3D,ENST00000541043,;	1812	135	164	SUCCESS
AGTPBP1	23287	.	GRCh37	9	88272416	88272416	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	54	95	0	ENST00000357081.3:c.843C>T	p.Asn281=	p.N281=	ENST00000357081	NM_001286715.1	281	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS6672.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGTTTGT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12756:SF2,hmmpanther:PTHR12756	.	.	ENSP00000365251	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000376083	Transcript	.	.	ENSG00000135049	17258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC1_HUMAN	AGTPBP1	HGNC	.	.	UPI000013CF66	SNV	AGTPBP1,synonymous_variant,p.%3D,ENST00000357081,;AGTPBP1,synonymous_variant,p.%3D,ENST00000376083,;AGTPBP1,synonymous_variant,p.%3D,ENST00000376109,;AGTPBP1,synonymous_variant,p.%3D,ENST00000432218,;AGTPBP1,3_prime_UTR_variant,,ENST00000337006,;AGTPBP1,3_prime_UTR_variant,,ENST00000376080,;AGTPBP1,intron_variant,,ENST00000376081,;AGTPBP1,non_coding_transcript_exon_variant,,ENST00000491784,;	920	95	101	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	104984619	104984619	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	234	173	319	0	ENST00000372582.1:c.983A>T	p.Asn328Ile	p.N328I	ENST00000372582	NM_017416.1	328	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS14517.1	983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAATTATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR01539	.	.	ENSP00000361663	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,missense_variant,p.Asn328Ile,ENST00000344799,;IL1RAPL2,missense_variant,p.Asn328Ile,ENST00000372582,;IL1RAPL2,upstream_gene_variant,,ENST00000485671,;	1739	319	408	SUCCESS
CXorf56	0	.	GRCh37	X	118699267	118699267	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	87	212	0	ENST00000371594.4:c.52G>T	p.Glu18Ter	p.E18*	ENST00000371594	NM_022101.3	18	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14579.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCCGGT	NONE	.	.	hmmpanther:PTHR13420:SF2,hmmpanther:PTHR13420	.	.	ENSP00000360652	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000371594	Transcript	.	.	ENSG00000018610	26239	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX056_HUMAN	CXorf56	HGNC	.	.	UPI0000073C83	SNV	CXorf56,stop_gained,p.Glu18Ter,ENST00000536133,;CXorf56,stop_gained,p.Glu18Ter,ENST00000371594,;CXorf56,5_prime_UTR_variant,,ENST00000320339,;	131	212	249	SUCCESS
CD40LG	959	.	GRCh37	X	135741541	135741541	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	810	500	1160	1	ENST00000370629.2:c.753T>C	p.Thr251=	p.T251=	ENST00000370629	NM_000074.2	251	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS14659.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACTGGCTT	NONE	.	.	Prints_domain:PR01702,Superfamily_domains:SSF49842,SMART_domains:SM00207,PIRSF_domain:PIRSF016527,Gene3D:2.60.120.40,Pfam_domain:PF00229,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF5,PROSITE_profiles:PS50049	.	.	ENSP00000359663	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370629	Transcript	.	.	ENSG00000102245	11935	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD40L_HUMAN	CD40LG	HGNC	Q3LFI8_HUMAN	.	UPI00000315E7	SNV	CD40LG,synonymous_variant,p.%3D,ENST00000370629,;CD40LG,synonymous_variant,p.%3D,ENST00000370628,;	809	1161	1311	SUCCESS
TIMP1	7076	.	GRCh37	X	47445002	47445002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	78	163	0	ENST00000218388.4:c.389G>T	p.Ser130Ile	p.S130I	ENST00000218388	NM_003254.2	130	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS14281.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAGCCTGA	NONE	.	.	PROSITE_profiles:PS50189,hmmpanther:PTHR11844:SF20,hmmpanther:PTHR11844,Gene3D:2e2dC01,Pfam_domain:PF00965,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000218388	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000218388	Transcript	.	.	ENSG00000102265	11820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	TIMP1_HUMAN	TIMP1	HGNC	Q6FGX5_HUMAN,Q5H9A7_HUMAN	.	UPI00001135B1	SNV	TIMP1,missense_variant,p.Ser66Ile,ENST00000377017,;TIMP1,missense_variant,p.Ser88Ile,ENST00000445623,;TIMP1,missense_variant,p.Ser124Ile,ENST00000377018,;TIMP1,missense_variant,p.Ser130Ile,ENST00000218388,;TIMP1,3_prime_UTR_variant,,ENST00000456754,;SYN1,intron_variant,,ENST00000340666,;SYN1,intron_variant,,ENST00000295987,;TIMP1,downstream_gene_variant,,ENST00000441738,;MIR4769,upstream_gene_variant,,ENST00000584126,;	559	163	184	SUCCESS
PQBP1	10084	.	GRCh37	X	48759212	48759212	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	89	0	ENST00000218224.4:c.185T>G	p.Leu62Arg	p.L62R	ENST00000218224	NM_005710.2	62	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS14309.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCTCCCTT	NONE	.	.	PROSITE_profiles:PS50020,hmmpanther:PTHR21737,Gene3D:2.20.70.10,Pfam_domain:PF00397,SMART_domains:SM00456,Superfamily_domains:SSF51045	.	.	ENSP00000218224	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000218224	Transcript	.	.	ENSG00000102103	9330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.705)	.	tolerated(0.96)	.	PQBP1_HUMAN	PQBP1	HGNC	C9JQA1_HUMAN	.	UPI0000073DB7	SNV	PQBP1,missense_variant,p.Leu62Arg,ENST00000247140,;PQBP1,missense_variant,p.Leu62Arg,ENST00000443648,;PQBP1,missense_variant,p.Leu62Arg,ENST00000218224,;PQBP1,missense_variant,p.Leu62Arg,ENST00000396763,;PQBP1,missense_variant,p.Leu62Arg,ENST00000376563,;PQBP1,missense_variant,p.Leu51Arg,ENST00000456306,;PQBP1,missense_variant,p.Leu62Arg,ENST00000376566,;PQBP1,missense_variant,p.Leu62Arg,ENST00000447146,;SLC35A2,downstream_gene_variant,,ENST00000413561,;SLC35A2,downstream_gene_variant,,ENST00000446885,;SLC35A2,downstream_gene_variant,,ENST00000452555,;SLC35A2,downstream_gene_variant,,ENST00000247138,;TIMM17B,upstream_gene_variant,,ENST00000490755,;SLC35A2,downstream_gene_variant,,ENST00000376512,;TIMM17B,upstream_gene_variant,,ENST00000495490,;SLC35A2,downstream_gene_variant,,ENST00000376521,;TIMM17B,upstream_gene_variant,,ENST00000376582,;TIMM17B,upstream_gene_variant,,ENST00000396779,;SLC35A2,downstream_gene_variant,,ENST00000376529,;PQBP1,downstream_gene_variant,,ENST00000376548,;SLC35A2,downstream_gene_variant,,ENST00000445167,;SLC35A2,downstream_gene_variant,,ENST00000376515,;TIMM17B,upstream_gene_variant,,ENST00000465150,;PQBP1,non_coding_transcript_exon_variant,,ENST00000470059,;PQBP1,non_coding_transcript_exon_variant,,ENST00000472742,;PQBP1,non_coding_transcript_exon_variant,,ENST00000465859,;PQBP1,non_coding_transcript_exon_variant,,ENST00000477997,;PQBP1,non_coding_transcript_exon_variant,,ENST00000474671,;PQBP1,non_coding_transcript_exon_variant,,ENST00000470062,;PQBP1,non_coding_transcript_exon_variant,,ENST00000463529,;PQBP1,non_coding_transcript_exon_variant,,ENST00000473764,;TIMM17B,upstream_gene_variant,,ENST00000472645,;PQBP1,downstream_gene_variant,,ENST00000486150,;TIMM17B,upstream_gene_variant,,ENST00000464663,;TIMM17B,upstream_gene_variant,,ENST00000466995,;	439	89	99	SUCCESS
CACNA1F	778	.	GRCh37	X	49072969	49072969	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1557107461	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	103	234	0	ENST00000376265.2:c.3142C>G	p.Pro1048Ala	p.P1048A	ENST00000376265	NM_005183.2	1048	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS35253.1	3142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGGTATA	NONE	.	.	hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037,Pfam_domain:PF00520	.	.	ENSP00000365441	.	27/48	.	.	.	.	.	.	.	.	.	27/48	PASS	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.04)	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,missense_variant,p.Pro983Ala,ENST00000376251,;CACNA1F,missense_variant,p.Pro1048Ala,ENST00000376265,;CACNA1F,missense_variant,p.Pro1037Ala,ENST00000323022,;	3204	234	276	SUCCESS
TACC2	10579	.	GRCh37	10	123976336	123976336	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	4	92	0	ENST00000334433.3:c.7539C>T	p.Pro2513=	p.P2513=	ENST00000334433		2513	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7626.1	7539	MUTECT|MUSE	.	TCACCCACTGA	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,synonymous_variant,p.%3D,ENST00000368999,;TACC2,synonymous_variant,p.%3D,ENST00000358010,;TACC2,synonymous_variant,p.%3D,ENST00000453444,;TACC2,synonymous_variant,p.%3D,ENST00000260733,;TACC2,synonymous_variant,p.%3D,ENST00000369005,;TACC2,synonymous_variant,p.%3D,ENST00000334433,;TACC2,synonymous_variant,p.%3D,ENST00000515603,;TACC2,synonymous_variant,p.%3D,ENST00000369004,;TACC2,synonymous_variant,p.%3D,ENST00000514539,;TACC2,synonymous_variant,p.%3D,ENST00000496913,;TACC2,synonymous_variant,p.%3D,ENST00000513429,;TACC2,synonymous_variant,p.%3D,ENST00000369000,;TACC2,synonymous_variant,p.%3D,ENST00000360561,;TACC2,synonymous_variant,p.%3D,ENST00000508411,;TACC2,synonymous_variant,p.%3D,ENST00000369001,;TACC2,synonymous_variant,p.%3D,ENST00000515273,;TACC2,downstream_gene_variant,,ENST00000505639,;TACC2,3_prime_UTR_variant,,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;	7879	92	95	SUCCESS
ABCG4	64137	.	GRCh37	11	119031798	119031798	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	33	0	ENST00000307417.3:c.1923G>T	p.Arg641=	p.R641=	ENST00000307417	NM_022169.4	641	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8415.1	1923	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TACCGGGTCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211	.	.	ENSP00000304111	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000307417	Transcript	.	.	ENSG00000172350	13884	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCG4_HUMAN	ABCG4	HGNC	Q9NT30_HUMAN,E9PJ00_HUMAN	.	UPI000000D999	SNV	ABCG4,synonymous_variant,p.%3D,ENST00000307417,;ABCG4,synonymous_variant,p.%3D,ENST00000449422,;ABCG4,synonymous_variant,p.%3D,ENST00000531739,;AP002956.1,upstream_gene_variant,,ENST00000599663,;ABCG4,downstream_gene_variant,,ENST00000534402,;ABCG4,downstream_gene_variant,,ENST00000533694,;	2287	33	31	SUCCESS
BBOX1	8424	.	GRCh37	11	27114762	27114762	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	101	0	ENST00000263182.3:c.382G>A	p.Glu128Lys	p.E128K	ENST00000263182	NM_003986.2	128	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7862.1	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGAAGAT	NONE	.	.	hmmpanther:PTHR10696,hmmpanther:PTHR10696:SF20,Pfam_domain:PF02668,Gene3D:3.60.130.10,TIGRFAM_domain:TIGR02409,Superfamily_domains:SSF51197	.	.	ENSP00000263182	.	5/9	.	.	.	.	.	.	.	.	COSM1507682	5/9	PASS	ENST00000263182	Transcript	.	.	ENSG00000129151	964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.11)	1	BODG_HUMAN	BBOX1	HGNC	Q1KLS6_HUMAN,E9PKC9_HUMAN	.	UPI0000126A4C	SNV	BBOX1,missense_variant,p.Glu128Lys,ENST00000525090,;BBOX1,missense_variant,p.Glu128Lys,ENST00000529202,;BBOX1,missense_variant,p.Glu128Lys,ENST00000263182,;BBOX1,missense_variant,p.Glu128Lys,ENST00000528583,;RP11-1L12.3,intron_variant,,ENST00000526061,;RP11-1L12.3,intron_variant,,ENST00000525302,;RP11-1L12.3,intron_variant,,ENST00000530430,;BBOX1,intron_variant,,ENST00000527505,;	750	101	106	SUCCESS
NLRP6	171389	.	GRCh37	11	281308	281308	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1436139839	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	58	0	ENST00000312165.5:c.1574G>A	p.Gly525Asp	p.G525D	ENST00000312165	NM_001276700.1	525	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS7693.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGCGTTG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3	.	.	ENSP00000309767	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000312165	Transcript	.	.	ENSG00000174885	22944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.76)	.	NALP6_HUMAN	NLRP6	HGNC	.	.	UPI00001AEFE1	SNV	NLRP6,missense_variant,p.Gly525Asp,ENST00000534750,;NLRP6,missense_variant,p.Gly525Asp,ENST00000312165,;NLRP6,downstream_gene_variant,,ENST00000527946,;	1574	58	63	SUCCESS
UCP2	7351	.	GRCh37	11	73687988	73687988	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747694014	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	18	74	0	ENST00000310473.3:c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000310473	NM_003355.2	138	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8228.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCGTGG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF167,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000312029	.	5/8	.	.	.	.	.	.	.	.	rs747694014	5/8	PASS	ENST00000310473	Transcript	.	.	ENSG00000175567	12518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UCP2_HUMAN	UCP2	HGNC	F5H312_HUMAN	.	UPI000003627C	SNV	UCP2,missense_variant,p.Asp138Tyr,ENST00000536983,;UCP2,missense_variant,p.Asp22Tyr,ENST00000545212,;UCP2,missense_variant,p.Asp111Tyr,ENST00000544615,;UCP2,missense_variant,p.Asp138Tyr,ENST00000310473,;UCP2,downstream_gene_variant,,ENST00000539764,;UCP2,downstream_gene_variant,,ENST00000542615,;UCP2,downstream_gene_variant,,ENST00000541027,;UCP2,non_coding_transcript_exon_variant,,ENST00000545562,;UCP2,downstream_gene_variant,,ENST00000539330,;UCP2,downstream_gene_variant,,ENST00000543714,;	1255	74	101	SUCCESS
MVK	4598	.	GRCh37	12	110029107	110029107	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104895352	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	63	0	ENST00000228510.3:c.830G>A	p.Arg277His	p.R277H	ENST00000228510	NM_001114185.1	277	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS9132.1	830	RADIA|MUTECT|MUSE|VARSCANS	not_provided	TGAGCGCGTGC	NONE	byCluster	.	hmmpanther:PTHR10457:SF4,hmmpanther:PTHR10457,Gene3D:3.30.70.890,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF55060	.	.	ENSP00000228510	.	9/11	.	.	.	.	.	.	.	.	CM055448,rs104895352	9/11	PASS	ENST00000228510	Transcript	.	.	ENSG00000110921	7530	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	16255052	benign(0.002)	.	tolerated(0.06)	.	KIME_HUMAN	MVK	HGNC	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN	.	UPI000012DE5B	SNV	MVK,missense_variant,p.Arg225His,ENST00000392727,;MVK,missense_variant,p.Arg277His,ENST00000228510,;MVK,missense_variant,p.Arg225His,ENST00000539575,;MVK,missense_variant,p.Arg83His,ENST00000541384,;MVK,5_prime_UTR_variant,,ENST00000539696,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,3_prime_UTR_variant,,ENST00000447878,;MVK,non_coding_transcript_exon_variant,,ENST00000540353,;MVK,downstream_gene_variant,,ENST00000545774,;MVK,downstream_gene_variant,,ENST00000545516,;	906	63	76	SUCCESS
GALNT6	11226	.	GRCh37	12	51773494	51773494	+	synonymous_variant	Silent	SNP	G	G	A	rs765711039	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	35	0	ENST00000356317.3:c.72C>T	p.Leu24=	p.L24=	ENST00000356317	NM_007210.3	24	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8813.1	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGAGGAA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675	.	.	ENSP00000444171	.	2/11	.	.	.	.	.	.	.	.	rs765711039	2/11	PASS	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,synonymous_variant,p.%3D,ENST00000605617,;GALNT6,synonymous_variant,p.%3D,ENST00000356317,;GALNT6,synonymous_variant,p.%3D,ENST00000604381,;GALNT6,synonymous_variant,p.%3D,ENST00000604847,;GALNT6,synonymous_variant,p.%3D,ENST00000603188,;GALNT6,synonymous_variant,p.%3D,ENST00000603563,;GALNT6,synonymous_variant,p.%3D,ENST00000543196,;GALNT6,synonymous_variant,p.%3D,ENST00000605138,;GALNT6,synonymous_variant,p.%3D,ENST00000604426,;GALNT6,downstream_gene_variant,,ENST00000604506,;GALNT6,downstream_gene_variant,,ENST00000605055,;GALNT6,downstream_gene_variant,,ENST00000603203,;GALNT6,downstream_gene_variant,,ENST00000605720,;GALNT6,downstream_gene_variant,,ENST00000605089,;GALNT6,downstream_gene_variant,,ENST00000603482,;GALNT6,downstream_gene_variant,,ENST00000605822,;GALNT6,downstream_gene_variant,,ENST00000605367,;GALNT6,synonymous_variant,p.%3D,ENST00000603641,;	278	35	34	SUCCESS
OR9K2	441639	.	GRCh37	12	55524551	55524551	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	38	0	ENST00000305377.5:c.999T>C	p.Ile333=	p.I333=	ENST00000305377	NM_001005243.1	333	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS31814.1	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATTATTCT	NONE	.	.	.	.	.	ENSP00000307598	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305377	Transcript	.	.	ENSG00000170605	15339	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR9K2_HUMAN	OR9K2	HGNC	.	.	UPI00003B287B	SNV	OR9K2,synonymous_variant,p.%3D,ENST00000305377,;	1087	38	51	SUCCESS
ESYT1	23344	.	GRCh37	12	56532051	56532051	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	11	71	0	ENST00000394048.5:c.2332G>A	p.Glu778Lys	p.E778K	ENST00000394048	NM_001184796.1	778	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS53801.1	2362	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTAGAGGAG	NONE	.	.	hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26	.	.	ENSP00000445952	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000541590	Transcript	.	.	ENSG00000139641	29534	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	deleterious(0.02)	.	ESYT1_HUMAN	ESYT1	HGNC	F8VZB1_HUMAN	.	UPI0000D720B2	SNV	ESYT1,missense_variant,p.Glu788Lys,ENST00000267113,;ESYT1,missense_variant,p.Glu788Lys,ENST00000541590,;ESYT1,missense_variant,p.Glu778Lys,ENST00000394048,;ESYT1,non_coding_transcript_exon_variant,,ENST00000550878,;ESYT1,non_coding_transcript_exon_variant,,ENST00000547667,;ESYT1,upstream_gene_variant,,ENST00000548142,;ESYT1,upstream_gene_variant,,ENST00000551112,;	2415	71	95	SUCCESS
SHMT2	6472	.	GRCh37	12	57627403	57627403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	52	0	ENST00000328923.3:c.1081A>G	p.Met361Val	p.M361V	ENST00000328923	NM_005412.5	361	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS8934.1	1081	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCATGGCA	NONE	.	.	HAMAP:MF_00051,hmmpanther:PTHR11680:SF1,hmmpanther:PTHR11680,Pfam_domain:PF00464,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000412,Superfamily_domains:SSF53383	.	.	ENSP00000333667	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000328923	Transcript	.	.	ENSG00000182199	10852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.457)	.	deleterious(0.02)	.	GLYM_HUMAN	SHMT2	HGNC	G3V5L0_HUMAN,G3V4X0_HUMAN,G3V4T0_HUMAN,G3V3Y8_HUMAN,G3V2Y4_HUMAN,G3V2W0_HUMAN,G3V241_HUMAN	.	UPI000000DA76	SNV	SHMT2,missense_variant,p.Met340Val,ENST00000414700,;SHMT2,missense_variant,p.Met351Val,ENST00000557487,;SHMT2,missense_variant,p.Met265Val,ENST00000393827,;SHMT2,missense_variant,p.Met361Val,ENST00000328923,;SHMT2,missense_variant,p.Met161Val,ENST00000557529,;SHMT2,missense_variant,p.Met340Val,ENST00000449049,;SHMT2,missense_variant,p.Met340Val,ENST00000553474,;SHMT2,missense_variant,p.Met200Val,ENST00000555634,;NDUFA4L2,downstream_gene_variant,,ENST00000554503,;SHMT2,downstream_gene_variant,,ENST00000554975,;SHMT2,downstream_gene_variant,,ENST00000557427,;SHMT2,downstream_gene_variant,,ENST00000553529,;SHMT2,downstream_gene_variant,,ENST00000554310,;NDUFA4L2,downstream_gene_variant,,ENST00000556732,;SHMT2,downstream_gene_variant,,ENST00000555773,;SHMT2,downstream_gene_variant,,ENST00000556737,;SHMT2,downstream_gene_variant,,ENST00000556689,;SHMT2,downstream_gene_variant,,ENST00000557703,;NDUFA4L2,downstream_gene_variant,,ENST00000393825,;SHMT2,downstream_gene_variant,,ENST00000553949,;NDUFA4L2,downstream_gene_variant,,ENST00000556234,;SHMT2,downstream_gene_variant,,ENST00000554600,;SHMT2,downstream_gene_variant,,ENST00000554656,;SHMT2,downstream_gene_variant,,ENST00000557740,;SHMT2,3_prime_UTR_variant,,ENST00000556825,;SHMT2,3_prime_UTR_variant,,ENST00000553837,;SHMT2,3_prime_UTR_variant,,ENST00000557433,;SHMT2,3_prime_UTR_variant,,ENST00000557348,;SHMT2,3_prime_UTR_variant,,ENST00000555774,;SHMT2,3_prime_UTR_variant,,ENST00000555116,;SHMT2,non_coding_transcript_exon_variant,,ENST00000554467,;SHMT2,downstream_gene_variant,,ENST00000557302,;SHMT2,downstream_gene_variant,,ENST00000553868,;SHMT2,downstream_gene_variant,,ENST00000553950,;SHMT2,downstream_gene_variant,,ENST00000557269,;NDUFA4L2,downstream_gene_variant,,ENST00000555173,;SHMT2,upstream_gene_variant,,ENST00000556798,;SHMT2,downstream_gene_variant,,ENST00000555563,;NDUFA4L2,downstream_gene_variant,,ENST00000554688,;SHMT2,downstream_gene_variant,,ENST00000554604,;SHMT2,downstream_gene_variant,,ENST00000555213,;SHMT2,downstream_gene_variant,,ENST00000553324,;	1533	52	78	SUCCESS
KIAA0586	9786	.	GRCh37	14	58938977	58938977	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	300	56	369	0	ENST00000354386.6:c.2773G>A	p.Glu925Lys	p.E925K	ENST00000354386	NM_001244189.1	925	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS58320.1	2773	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGAAATA	NONE	.	.	hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2,Pfam_domain:PF15324	.	.	ENSP00000346359	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.779)	.	deleterious(0.02)	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	SNV	KIAA0586,missense_variant,p.Glu796Lys,ENST00000261244,;KIAA0586,missense_variant,p.Glu828Lys,ENST00000423743,;KIAA0586,missense_variant,p.Glu925Lys,ENST00000354386,;KIAA0586,missense_variant,p.Glu857Lys,ENST00000556134,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	3017	369	357	SUCCESS
TTBK2	146057	.	GRCh37	15	43038338	43038338	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	63	0	ENST00000267890.6:c.3390T>A	p.Ser1130Arg	p.S1130R	ENST00000267890	NM_173500.3	1130	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS42029.1	3390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTT	NONE	.	.	.	.	.	ENSP00000267890	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000267890	Transcript	1	.	ENSG00000128881	19141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	tolerated_low_confidence(0.09)	.	TTBK2_HUMAN	TTBK2	HGNC	H3BTY5_HUMAN	.	UPI0000043542	SNV	TTBK2,missense_variant,p.Ser1130Arg,ENST00000267890,;CTD-2036P10.3,downstream_gene_variant,,ENST00000567456,;CTD-2036P10.3,downstream_gene_variant,,ENST00000500850,;	3499	63	52	SUCCESS
ERCC4	2072	.	GRCh37	16	14041917	14041917	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	98	0	ENST00000311895.7:c.2464C>T	p.Gln822Ter	p.Q822*	ENST00000311895	NM_005236.2	822	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32390.1	2464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACAGCCT	NONE	.	.	hmmpanther:PTHR10150,Gene3D:1j23A00,TIGRFAM_domain:TIGR00596	.	.	ENSP00000310520	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000311895	Transcript	.	.	ENSG00000175595	3436	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPF_HUMAN	ERCC4	HGNC	B4DXD8_HUMAN	.	UPI0000161BBF	SNV	ERCC4,stop_gained,p.Gln822Ter,ENST00000311895,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;ERCC4,downstream_gene_variant,,ENST00000462862,;	2473	98	93	SUCCESS
CRLF3	51379	.	GRCh37	17	29120592	29120592	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	7	84	0	ENST00000324238.6:c.702C>G	p.Phe234Leu	p.F234L	ENST00000324238	NM_015986.3	234	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS32607.1	702	MUTECT|MUSE	.	ACTATGAATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR15828,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000318804	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000324238	Transcript	.	.	ENSG00000176390	17177	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	tolerated(0.07)	.	CRLF3_HUMAN	CRLF3	HGNC	B4DJU5_HUMAN	.	UPI0000231BEA	SNV	CRLF3,missense_variant,p.Phe234Leu,ENST00000324238,;CRLF3,missense_variant,p.Phe118Leu,ENST00000544695,;CTD-2349P21.9,downstream_gene_variant,,ENST00000580085,;CRLF3,intron_variant,,ENST00000577725,;SUZ12P,downstream_gene_variant,,ENST00000583950,;CRLF3,3_prime_UTR_variant,,ENST00000578692,;	827	84	119	SUCCESS
ERN1	2081	.	GRCh37	17	62125306	62125306	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs563941838	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	53	0	ENST00000433197.3:c.2441C>A	p.Ala814Glu	p.A814E	ENST00000433197	NM_001433.3	814	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS45762.1	2441	MUTECT|MUSE	.	CCATCGCAATC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000401445	.	19/22	.	.	.	.	.	.	.	.	rs563941838	19/22	PASS	ENST00000433197	Transcript	.	.	ENSG00000178607	3449	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.131)	.	deleterious(0.03)	.	ERN1_HUMAN	ERN1	HGNC	.	.	UPI0000201263	SNV	ERN1,missense_variant,p.Ala814Glu,ENST00000433197,;	2537	53	55	SUCCESS
RNF213	57674	.	GRCh37	17	78269372	78269372	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	10	89	0	ENST00000582970.1:c.1771T>C	p.Trp591Arg	p.W591R	ENST00000582970	NM_001256071.1	591	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS58606.1	1771	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTGGCAA	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	10/68	.	.	.	.	.	.	.	.	.	10/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.963)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Trp591Arg,ENST00000582970,;RNF213,missense_variant,p.Trp591Arg,ENST00000319921,;RNF213,missense_variant,p.Trp591Arg,ENST00000456466,;RNF213,missense_variant,p.Trp640Arg,ENST00000508628,;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,;RNF213,downstream_gene_variant,,ENST00000573548,;RNF213,upstream_gene_variant,,ENST00000574060,;	1914	89	105	SUCCESS
RPRD1A	55197	.	GRCh37	18	33607210	33607210	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	42	194	0	ENST00000357384.4:c.550C>T	p.His184Tyr	p.H184Y	ENST00000357384		184	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS11917.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGAACTG	NONE	.	.	hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF2	.	.	ENSP00000381984	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000399022	Transcript	.	.	ENSG00000141425	25560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.296)	.	deleterious(0)	.	RPR1A_HUMAN	RPRD1A	HGNC	K7ER50_HUMAN	.	UPI0000036029	SNV	RPRD1A,missense_variant,p.His148Tyr,ENST00000588737,;RPRD1A,missense_variant,p.His37Tyr,ENST00000585953,;RPRD1A,missense_variant,p.His148Tyr,ENST00000337059,;RPRD1A,missense_variant,p.His148Tyr,ENST00000590898,;RPRD1A,missense_variant,p.His184Tyr,ENST00000357384,;RPRD1A,missense_variant,p.His184Tyr,ENST00000319040,;RPRD1A,missense_variant,p.His184Tyr,ENST00000399022,;RPRD1A,missense_variant,p.His184Tyr,ENST00000589050,;RPRD1A,non_coding_transcript_exon_variant,,ENST00000591994,;	722	194	193	SUCCESS
EPB41L3	23136	.	GRCh37	18	5423479	5423479	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	29	134	0	ENST00000341928.2:c.1237C>T	p.Gln413Ter	p.Q413*	ENST00000341928	NM_012307.3	413	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11838.1	1237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTGTGTCC	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF08736,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729	.	.	ENSP00000343158	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,stop_gained,p.Gln413Ter,ENST00000342933,;EPB41L3,stop_gained,p.Gln413Ter,ENST00000341928,;EPB41L3,stop_gained,p.Gln70Ter,ENST00000584670,;EPB41L3,stop_gained,p.Gln413Ter,ENST00000400111,;EPB41L3,stop_gained,p.Gln413Ter,ENST00000544123,;EPB41L3,stop_gained,p.Gln413Ter,ENST00000540638,;EPB41L3,upstream_gene_variant,,ENST00000427684,;EPB41L3,upstream_gene_variant,,ENST00000542146,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581661,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,upstream_gene_variant,,ENST00000578524,;EPB41L3,upstream_gene_variant,,ENST00000578196,;EPB41L3,upstream_gene_variant,,ENST00000580316,;EPB41L3,upstream_gene_variant,,ENST00000581292,;EPB41L3,upstream_gene_variant,,ENST00000581387,;EPB41L3,upstream_gene_variant,,ENST00000578395,;EPB41L3,upstream_gene_variant,,ENST00000580647,;EPB41L3,upstream_gene_variant,,ENST00000579271,;	1578	134	155	SUCCESS
ZNF345	25850	.	GRCh37	19	37367954	37367954	+	synonymous_variant	Silent	SNP	A	A	G	rs754906884	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	88	0	ENST00000420450.1:c.222A>G	p.Val74=	p.V74=	ENST00000420450	NM_001242472.1	74	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS12497.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTATCAGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF283,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000431202	.	2/2	.	.	.	.	.	.	.	.	rs754906884	2/2	PASS	ENST00000529555	Transcript	.	.	ENSG00000251247	16367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN345_HUMAN	ZNF345	HGNC	K7EM63_HUMAN,K7EKZ8_HUMAN,F8W8R5_HUMAN,E9PLT7_HUMAN,B7Z4L5_HUMAN	.	UPI000013C364	SNV	ZNF345,synonymous_variant,p.%3D,ENST00000585396,;ZNF345,synonymous_variant,p.%3D,ENST00000589046,;ZNF345,synonymous_variant,p.%3D,ENST00000331800,;ZNF345,synonymous_variant,p.%3D,ENST00000529555,;ZNF345,synonymous_variant,p.%3D,ENST00000532141,;ZNF345,synonymous_variant,p.%3D,ENST00000586646,;ZNF345,synonymous_variant,p.%3D,ENST00000420450,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000534729,;ZNF345,intron_variant,,ENST00000529989,;	1010	88	88	SUCCESS
SUPT5H	6829	.	GRCh37	19	39966766	39966766	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	39	0	ENST00000432763.2:c.3070A>G	p.Ser1024Gly	p.S1024G	ENST00000432763	NM_001111020.2	1024	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS12536.1	3070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCAGCATT	NONE	.	.	hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945	.	.	ENSP00000470252	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000599117	Transcript	.	.	ENSG00000196235	11469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0.02)	.	SPT5H_HUMAN	SUPT5H	HGNC	M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN	.	UPI000006D81A	SNV	SUPT5H,missense_variant,p.Ser1024Gly,ENST00000432763,;SUPT5H,missense_variant,p.Ser1020Gly,ENST00000402194,;SUPT5H,missense_variant,p.Ser1024Gly,ENST00000599117,;SUPT5H,missense_variant,p.Ser1020Gly,ENST00000359191,;SUPT5H,missense_variant,p.Ser1024Gly,ENST00000598725,;TIMM50,upstream_gene_variant,,ENST00000597666,;TIMM50,upstream_gene_variant,,ENST00000544017,;TIMM50,upstream_gene_variant,,ENST00000314349,;TIMM50,upstream_gene_variant,,ENST00000599794,;TIMM50,upstream_gene_variant,,ENST00000601403,;TIMM50,upstream_gene_variant,,ENST00000607714,;TIMM50,upstream_gene_variant,,ENST00000602028,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000600818,;SUPT5H,downstream_gene_variant,,ENST00000599335,;TIMM50,upstream_gene_variant,,ENST00000598125,;TIMM50,upstream_gene_variant,,ENST00000595286,;SUPT5H,downstream_gene_variant,,ENST00000596208,;TIMM50,upstream_gene_variant,,ENST00000601358,;TIMM50,upstream_gene_variant,,ENST00000597782,;TIMM50,upstream_gene_variant,,ENST00000599733,;TIMM50,upstream_gene_variant,,ENST00000602265,;	3437	39	73	SUCCESS
MIR498	574460	.	GRCh37	19	54177497	54177497	+	mature_miRNA_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	31	0	ENST00000385134.1:n.47G>T		p.*16*	ENST00000385134				0	.	.	.	.	.	T	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGGCGTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385134	Transcript	.	.	ENSG00000207869	32092	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR498	HGNC	.	.	.	SNV	MIR498,mature_miRNA_variant,,ENST00000385134,;MIR520E,upstream_gene_variant,,ENST00000384867,;MIR515-1,upstream_gene_variant,,ENST00000384884,;MIR512-2,downstream_gene_variant,,ENST00000384912,;MIR1323,downstream_gene_variant,,ENST00000408090,;	47	31	36	SUCCESS
COL11A1	1301	.	GRCh37	1	103471625	103471625	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	40	186	0	ENST00000370096.3:c.1790A>G	p.Lys597Arg	p.K597R	ENST00000370096	NM_001854.3	597	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS778.1	1790	RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTTTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000359114	.	17/67	.	.	.	.	.	.	.	.	.	17/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Lys481Arg,ENST00000512756,;COL11A1,missense_variant,p.Lys558Arg,ENST00000353414,;COL11A1,missense_variant,p.Lys597Arg,ENST00000370096,;COL11A1,missense_variant,p.Lys609Arg,ENST00000358392,;COL11A1,downstream_gene_variant,,ENST00000427239,;COL11A1,splice_region_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;	2103	186	233	SUCCESS
MTOR	2475	.	GRCh37	1	11184573	11184573	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs587777894	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	14	113	0	ENST00000361445.4:c.6644C>A	p.Ser2215Tyr	p.S2215Y	ENST00000361445	NM_004958.3	2215	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS127.1	6644	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGATGTT	SITE|p.S2215Y|c.6644C>A|9,CODON|p.S2215F|c.6644C>T|3	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:3.30.1010.10,Pfam_domain:PF00454,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000354558	.	47/58	.	.	.	.	.	.	.	.	COSM1686998,COSM20417	47/58	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.77)	.	deleterious(0)	1,1	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,missense_variant,p.Ser2215Tyr,ENST00000361445,;MTOR,missense_variant,p.Ser420Tyr,ENST00000376838,;	6721	113	101	SUCCESS
VANGL1	81839	.	GRCh37	1	116194093	116194093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	45	0	ENST00000310260.3:c.59C>A	p.Ser20Tyr	p.S20Y	ENST00000310260	NM_001172412.1	20	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS883.1	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTCACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF8,PIRSF_domain:PIRSF007991	.	.	ENSP00000347672	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000355485	Transcript	.	.	ENSG00000173218	15512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	VANG1_HUMAN	VANGL1	HGNC	.	.	UPI0000070B72	SNV	VANGL1,missense_variant,p.Ser20Tyr,ENST00000355485,;VANGL1,missense_variant,p.Ser20Tyr,ENST00000369509,;VANGL1,missense_variant,p.Ser20Tyr,ENST00000369510,;VANGL1,missense_variant,p.Ser20Tyr,ENST00000310260,;	330	45	41	SUCCESS
SEMA6C	10500	.	GRCh37	1	151105786	151105786	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755889939	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	26	87	0	ENST00000341697.3:c.1967G>A	p.Arg656Gln	p.R656Q	ENST00000341697		656	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS53364.1	2063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCGGGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11	.	.	ENSP00000357909	.	20/20	.	.	.	.	.	.	.	.	rs755889939	20/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	deleterious(0)	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,missense_variant,p.Arg656Gln,ENST00000368914,;SEMA6C,missense_variant,p.Arg688Gln,ENST00000368913,;SEMA6C,missense_variant,p.Arg656Gln,ENST00000341697,;SEMA6C,missense_variant,p.Arg648Gln,ENST00000368912,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000485745,;SEMA6C,downstream_gene_variant,,ENST00000464018,;SEMA6C,downstream_gene_variant,,ENST00000489944,;	2192	87	149	SUCCESS
ZNF687	57592	.	GRCh37	1	151262451	151262451	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	47	0	ENST00000324048.5:c.2932T>A	p.Tyr978Asn	p.Y978N	ENST00000324048		978	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS992.1	2932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATACGTG	NONE	.	.	hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000319829	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,missense_variant,p.Tyr978Asn,ENST00000324048,;ZNF687,missense_variant,p.Tyr978Asn,ENST00000368879,;ZNF687,missense_variant,p.Tyr581Asn,ENST00000426871,;ZNF687,missense_variant,p.Tyr978Asn,ENST00000336715,;PI4KB,downstream_gene_variant,,ENST00000455060,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368875,;PI4KB,downstream_gene_variant,,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000368874,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000529142,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000368872,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,3_prime_UTR_variant,,ENST00000449313,;ZNF687,downstream_gene_variant,,ENST00000459919,;	3902	47	64	SUCCESS
CRTC2	200186	.	GRCh37	1	153924613	153924613	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	84	0	ENST00000368633.1:c.878C>T	p.Pro293Leu	p.P293L	ENST00000368633	NM_181715.2	293	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS30875.1	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589,Pfam_domain:PF12885	.	.	ENSP00000357622	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000368633	Transcript	.	.	ENSG00000160741	27301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.43)	.	tolerated(0.05)	.	CRTC2_HUMAN	CRTC2	HGNC	Q8WZ18_HUMAN,Q8N332_HUMAN	.	UPI00001A9468	SNV	CRTC2,missense_variant,p.Pro293Leu,ENST00000368633,;CRTC2,intron_variant,,ENST00000368630,;CRTC2,downstream_gene_variant,,ENST00000492073,;CRTC2,downstream_gene_variant,,ENST00000476883,;CRTC2,missense_variant,p.Pro213Leu,ENST00000461638,;CRTC2,3_prime_UTR_variant,,ENST00000303569,;CRTC2,non_coding_transcript_exon_variant,,ENST00000467860,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,upstream_gene_variant,,ENST00000524997,;CRTC2,downstream_gene_variant,,ENST00000493909,;	1006	84	102	SUCCESS
DUSP27	0	.	GRCh37	1	167097157	167097157	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	67	0	ENST00000361200.2:c.2789A>G	p.Glu930Gly	p.E930G	ENST00000361200		930	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS30932.1	2789	MUTECT|MUSE	.	CAAAGAGATGG	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.728)	.	deleterious(0)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Glu930Gly,ENST00000361200,;DUSP27,missense_variant,p.Glu930Gly,ENST00000443333,;DUSP27,missense_variant,p.Glu930Gly,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	2955	67	103	SUCCESS
FMO3	2328	.	GRCh37	1	171086300	171086302	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	124	12	138	0	ENST00000367755.4:c.1318_1320del	p.Phe440del	p.F440del	ENST00000367755	NM_001002294.2	439	tcCTTc/tcc	0	.	.	.	.	.	-	SF/S	protein_coding	YES	CCDS1292.1	1317-1319	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCTCCTTCATTG	NONE	.	.	hmmpanther:PTHR23023:SF44,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Superfamily_domains:SSF51905	.	.	ENSP00000356729	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000367755	Transcript	.	.	ENSG00000007933	3771	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FMO3_HUMAN	FMO3	HGNC	.	.	UPI000016A103	deletion	FMO3,inframe_deletion,p.Phe440del,ENST00000367755,;FMO3,inframe_deletion,p.Phe377del,ENST00000538429,;FMO3,inframe_deletion,p.Phe420del,ENST00000542847,;FMO3,inframe_deletion,p.Phe440del,ENST00000392085,;	1428-1430	138	136	SUCCESS
FMO6P	388714	.	GRCh37	1	171121159	171121159	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	80	0	ENST00000236166.3:c.938T>C	p.Phe313Ser	p.F313S	ENST00000236166		313	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	.	938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTTTGAGG	NONE	.	.	Prints_domain:PR00370,Superfamily_domains:SSF51905,Gene3D:3.40.50.720,Pfam_domain:PF00743,hmmpanther:PTHR23023:SF81,hmmpanther:PTHR23023	.	.	ENSP00000236166	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000236166	Transcript	.	.	ENSG00000117507	24024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FMO6_HUMAN	FMO6P	HGNC	.	.	UPI00033351F0	SNV	FMO6P,missense_variant,p.Phe313Ser,ENST00000236166,;FMO6P,3_prime_UTR_variant,,ENST00000367754,;	1048	80	108	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186863272	186863272	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28395828	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	27	93	0	ENST00000367466.3:c.307G>A	p.Gly103Arg	p.G103R	ENST00000367466	NM_024420.2	103	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS1372.1	307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTAGGGACA	NONE	byFrequency	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000356436	.	5/18	.	.	.	.	.	.	.	.	rs28395828	5/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Gly103Arg,ENST00000442353,;PLA2G4A,missense_variant,p.Gly103Arg,ENST00000367466,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	459	93	161	SUCCESS
PPP1R12B	4660	.	GRCh37	1	202318209	202318209	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	19	89	0	ENST00000608999.1:c.231del	p.Leu78TrpfsTer15	p.L78Wfs*15	ENST00000608999	NM_002481.3	77	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS1426.1	230	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAGCTTCTGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18,Pfam_domain:PF12796,Gene3D:1.25.40.20,PIRSF_domain:PIRSF038141,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000476755	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000608999	Transcript	.	.	ENSG00000077157	7619	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PPP1R12B	HGNC	.	.	UPI0000458A57	deletion	PPP1R12B,frameshift_variant,p.Leu78TrpfsTer15,ENST00000356764,;PPP1R12B,frameshift_variant,p.Leu78TrpfsTer15,ENST00000608999,;PPP1R12B,frameshift_variant,p.Leu78TrpfsTer15,ENST00000336894,;PPP1R12B,frameshift_variant,p.Leu78TrpfsTer15,ENST00000480184,;PPP1R12B,frameshift_variant,p.Leu78TrpfsTer15,ENST00000476364,;	383	89	163	SUCCESS
CNTN2	6900	.	GRCh37	1	205027173	205027173	+	synonymous_variant	Silent	SNP	C	C	T	rs750251767	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	77	113	0	ENST00000331830.4:c.195C>T	p.Ala65=	p.A65=	ENST00000331830	NM_005076.3	65	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1449.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCAGCCC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50835	.	.	ENSP00000330633	.	3/23	.	.	.	.	.	.	.	.	rs750251767	3/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,synonymous_variant,p.%3D,ENST00000331830,;AL583832.1,upstream_gene_variant,,ENST00000515887,;CNTN2,non_coding_transcript_exon_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000527340,;CNTN2,upstream_gene_variant,,ENST00000481872,;	479	113	159	SUCCESS
DYRK3	8444	.	GRCh37	1	206821451	206821451	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	32	137	0	ENST00000367109.2:c.908A>T	p.Lys303Met	p.K303M	ENST00000367109	NM_003582.2	303	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS30999.1	908	RADIA|MUTECT|MUSE|VARSCANS	.	AAATAAGTTTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF35,hmmpanther:PTHR24058,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367109	Transcript	.	.	ENSG00000143479	3094	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DYRK3_HUMAN	DYRK3	HGNC	.	.	UPI0000071267	SNV	DYRK3,missense_variant,p.Lys283Met,ENST00000367106,;DYRK3,missense_variant,p.Lys283Met,ENST00000367108,;DYRK3,missense_variant,p.Lys303Met,ENST00000367109,;DYRK3,downstream_gene_variant,,ENST00000441486,;DYRK3,intron_variant,,ENST00000489878,;	1076	137	197	SUCCESS
CR1	1378	.	GRCh37	1	207700235	207700235	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	237	35	242	0	ENST00000367051.1:c.487+15236C>A		p.*163*	ENST00000367051		342		0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS44308.1	1024	RADIA|MUTECT|MUSE|VARSCANS	.	GCACACCCCAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	6/47	.	.	.	.	.	.	.	.	.	6/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.714)	.	tolerated(0.21)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Pro342Thr,ENST00000400960,;CR1,missense_variant,p.Pro342Thr,ENST00000367052,;CR1,missense_variant,p.Pro342Thr,ENST00000367049,;CR1,missense_variant,p.Pro342Thr,ENST00000367053,;CR1,intron_variant,,ENST00000367051,;CR1,intron_variant,,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;CR1,intron_variant,,ENST00000367050,;CR1,non_coding_transcript_exon_variant,,ENST00000434033,;CR1,intron_variant,,ENST00000436595,;CR1,intron_variant,,ENST00000450439,;	1024	242	272	SUCCESS
MACF1	23499	.	GRCh37	1	39748722	39748722	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	26	0	ENST00000372915.3:c.711-139A>G		p.*237*	ENST00000372915				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS435.1	.	MUTECT|MUSE	.	TTTGTACTCTT	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	7/93	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,3_prime_UTR_variant,,ENST00000536367,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000524432,;MACF1,intron_variant,,ENST00000496804,;MACF1,upstream_gene_variant,,ENST00000485063,;MACF1,upstream_gene_variant,,ENST00000484393,;MACF1,upstream_gene_variant,,ENST00000472385,;	.	26	22	SUCCESS
RIMKLA	284716	.	GRCh37	1	42865094	42865094	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	47	0	ENST00000431473.3:c.183G>A	p.Lys61=	p.K61=	ENST00000431473	NM_173642.3	61	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS466.2	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGGCCCT	NONE	.	.	Gene3D:3.40.50.20,TIGRFAM_domain:TIGR00768,hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF1	.	.	ENSP00000414330	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000431473	Transcript	.	.	ENSG00000177181	28725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMKA_HUMAN	RIMKLA	HGNC	.	.	UPI0000160ABF	SNV	RIMKLA,synonymous_variant,p.%3D,ENST00000431473,;RIMKLA,5_prime_UTR_variant,,ENST00000410070,;	312	47	45	SUCCESS
NRSN2	80023	.	GRCh37	20	333968	333968	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	46	0	ENST00000382285.2:c.304G>A	p.Asp102Asn	p.D102N	ENST00000382285		102	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12996.1	304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGATCAG	NONE	.	.	hmmpanther:PTHR14796,hmmpanther:PTHR14796:SF4,Pfam_domain:PF14927	.	.	ENSP00000371728	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382291	Transcript	.	.	ENSG00000125841	16229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	NRSN2_HUMAN	NRSN2	HGNC	.	.	UPI0000037BF7	SNV	NRSN2,missense_variant,p.Asp102Asn,ENST00000382291,;NRSN2,missense_variant,p.Asp102Asn,ENST00000470439,;NRSN2,missense_variant,p.Asp102Asn,ENST00000382285,;NRSN2,intron_variant,,ENST00000608736,;NRSN2,intron_variant,,ENST00000609179,;NRSN2,intron_variant,,ENST00000609504,;NRSN2,intron_variant,,ENST00000608875,;NRSN2,non_coding_transcript_exon_variant,,ENST00000492242,;NRSN2,intron_variant,,ENST00000608467,;	544	46	74	SUCCESS
RNF114	55905	.	GRCh37	20	48553085	48553085	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1462212625	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	6	100	0	ENST00000244061.2:c.136C>T	p.His46Tyr	p.H46Y	ENST00000244061	NM_018683.3	46	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS33482.1	136	MUTECT|MUSE	.	GCGGACACGTG	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR13982,PROSITE_patterns:PS00518,Gene3D:3.30.40.10,Pfam_domain:PF00097,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000244061	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000244061	Transcript	.	.	ENSG00000124226	13094	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.69)	.	deleterious(0.01)	.	RN114_HUMAN	RNF114	HGNC	H0UI65_HUMAN	.	UPI0000049FCA	SNV	RNF114,missense_variant,p.His46Tyr,ENST00000244061,;snoU13,downstream_gene_variant,,ENST00000459122,;	138	100	115	SUCCESS
SYCP2	10388	.	GRCh37	20	58467458	58467458	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1391811122	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	42	0	ENST00000357552.3:c.1951A>G	p.Thr651Ala	p.T651A	ENST00000357552		651	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13482.1	1951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGTAAGTT	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	24/45	.	.	.	.	.	.	.	.	.	24/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.54)	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,missense_variant,p.Thr651Ala,ENST00000446834,;SYCP2,missense_variant,p.Thr651Ala,ENST00000357552,;SYCP2,missense_variant,p.Thr651Ala,ENST00000371001,;	2177	42	31	SUCCESS
PAXBP1	94104	.	GRCh37	21	34133432	34133432	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	36	0	ENST00000331923.4:c.913C>A	p.Gln305Lys	p.Q305K	ENST00000331923	NM_016631.3	305	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS13619.1	913	MUTECT|MUSE	.	ATCCTGTTCTC	NONE	.	.	hmmpanther:PTHR12214:SF2,hmmpanther:PTHR12214	.	.	ENSP00000328992	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000331923	Transcript	.	.	ENSG00000159086	13579	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.632)	.	deleterious(0.04)	.	PAXB1_HUMAN	PAXBP1	HGNC	Q9NZD7_HUMAN,Q8N6E6_HUMAN,Q8N2J1_HUMAN,B3KY25_HUMAN	.	UPI000012B294	SNV	PAXBP1,missense_variant,p.Gln305Lys,ENST00000290178,;PAXBP1,missense_variant,p.Gln305Lys,ENST00000331923,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Gln305Lys,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;PAXBP1,upstream_gene_variant,,ENST00000466846,;	1103	36	41	SUCCESS
WRB	0	.	GRCh37	21	40762853	40762853	+	intron_variant	Intron	DEL	A	A	-	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	52	0	ENST00000333781.5:c.268+65del		p.*90*	ENST00000333781	NM_004627.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13664.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATGTGAAGATT	NONE	.	.	.	.	.	ENSP00000327716	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333781	Transcript	.	.	ENSG00000182093	12790	1	.	MODIFIER	2/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WRB_HUMAN	WRB	HGNC	H7BYE5_HUMAN,C9JLV3_HUMAN	.	UPI0000138F94	deletion	WRB,intron_variant,,ENST00000333781,;WRB,intron_variant,,ENST00000380708,;WRB,intron_variant,,ENST00000398753,;WRB,intron_variant,,ENST00000380713,;WRB,intron_variant,,ENST00000541890,;WRB,upstream_gene_variant,,ENST00000415847,;WRB,downstream_gene_variant,,ENST00000442773,;WRB,non_coding_transcript_exon_variant,,ENST00000466787,;WRB,non_coding_transcript_exon_variant,,ENST00000471468,;WRB,intron_variant,,ENST00000487869,;WRB,upstream_gene_variant,,ENST00000490860,;	.	52	69	SUCCESS
PPARA	5465	.	GRCh37	22	46614190	46614190	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	66	0	ENST00000262735.5:c.400C>G	p.Leu134Val	p.L134V	ENST00000262735	NM_005036.4	134	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS33669.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGCTGGTG	NONE	.	.	Superfamily_domains:SSF57716,SMART_domains:SM00399,Pfam_domain:PF00105,Gene3D:3.30.50.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF197,PROSITE_profiles:PS51030	.	.	ENSP00000379322	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000396000	Transcript	.	.	ENSG00000186951	9232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PPARA_HUMAN	PPARA	HGNC	F1D8S4_HUMAN,B0QYX2_HUMAN	.	UPI000000D8E0	SNV	PPARA,missense_variant,p.Leu134Val,ENST00000262735,;PPARA,missense_variant,p.Leu134Val,ENST00000396000,;PPARA,missense_variant,p.Leu134Val,ENST00000434345,;PPARA,missense_variant,p.Leu134Val,ENST00000402126,;PPARA,missense_variant,p.Leu134Val,ENST00000407236,;PPARA,downstream_gene_variant,,ENST00000420804,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,;	665	66	78	SUCCESS
DDX18	8886	.	GRCh37	2	118579226	118579226	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	48	0	ENST00000263239.2:c.651G>T	p.Arg217Ser	p.R217S	ENST00000263239	NM_006773.3	217	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS2120.1	651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGGATCT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF171,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487	.	.	ENSP00000263239	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000263239	Transcript	.	.	ENSG00000088205	2741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.558)	.	deleterious(0.01)	.	DDX18_HUMAN	DDX18	HGNC	Q53TI6_HUMAN,Q4ZG72_HUMAN	.	UPI000012907E	SNV	DDX18,missense_variant,p.Arg217Ser,ENST00000263239,;DDX18,upstream_gene_variant,,ENST00000415038,;DDX18,splice_region_variant,,ENST00000474694,;DDX18,upstream_gene_variant,,ENST00000489933,;DDX18,upstream_gene_variant,,ENST00000476149,;DDX18,upstream_gene_variant,,ENST00000461443,;	779	48	59	SUCCESS
FMNL2	114793	.	GRCh37	2	153476069	153476069	+	synonymous_variant	Silent	SNP	C	C	A	rs774744090	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	40	0	ENST00000288670.9:c.1674C>A	p.Pro558=	p.P558=	ENST00000288670	NM_052905.3	558	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46429.1	1674	SOMATICSNIPER|VARSCANS	.	CCGCCCCCTCC	SITE|p.P558P|c.1674C>A|4,BUFFER|p.P573_L574insP|c.1671_1672insCCA|4	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Prints_domain:PR00049	.	.	ENSP00000288670	.	15/26	.	.	.	.	.	.	.	.	rs774744090,COSM118509	15/26	common_in_exac	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,synonymous_variant,p.%3D,ENST00000288670,;FMNL2,upstream_gene_variant,,ENST00000475377,;	2041	40	36	SUCCESS
RHOB	388	.	GRCh37	2	20647230	20647230	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	46	0	ENST00000272233.4:c.4G>T	p.Ala2Ser	p.A2S	ENST00000272233	NM_004040.2	2	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1699.1	4	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGCGGCC	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF100,hmmpanther:PTHR24072	.	.	ENSP00000272233	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000272233	Transcript	.	.	ENSG00000143878	668	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	tolerated(0.22)	.	RHOB_HUMAN	RHOB	HGNC	B4DMJ8_HUMAN	.	UPI0000021989	SNV	RHOB,missense_variant,p.Ala2Ser,ENST00000272233,;AC023137.2,upstream_gene_variant,,ENST00000448241,;	396	46	61	SUCCESS
CAPN13	92291	.	GRCh37	2	30993223	30993223	+	synonymous_variant	Silent	SNP	T	T	C	rs1428673264	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	21	116	0	ENST00000295055.8:c.480A>G	p.Gln160=	p.Q160=	ENST00000295055	NM_144575.2	160	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS46252.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTTTGGTG	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	.	ENSP00000295055	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,synonymous_variant,p.%3D,ENST00000534090,;CAPN13,synonymous_variant,p.%3D,ENST00000295055,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,synonymous_variant,p.%3D,ENST00000458085,;CAPN13,3_prime_UTR_variant,,ENST00000485248,;	657	116	114	SUCCESS
FOXN2	3344	.	GRCh37	2	48602537	48602537	+	synonymous_variant	Silent	SNP	A	A	C	rs760072258	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	40	0	ENST00000340553.3:c.1251A>C	p.Leu417=	p.L417=	ENST00000340553	NM_002158.3	417	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1838.1	1251	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTAATAAG	NONE	.	.	hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF10	.	.	ENSP00000343633	.	7/7	.	.	.	.	.	.	.	.	rs760072258	7/7	PASS	ENST00000340553	Transcript	.	.	ENSG00000170802	5281	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOXN2_HUMAN	FOXN2	HGNC	Q6IS90_HUMAN,C9JTA7_HUMAN	.	UPI0000226321	SNV	FOXN2,synonymous_variant,p.%3D,ENST00000340553,;FOXN2,downstream_gene_variant,,ENST00000413569,;	1512	40	41	SUCCESS
KIAA1841	84542	.	GRCh37	2	61333780	61333780	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	103	0	ENST00000402291.1:c.1594A>G	p.Thr532Ala	p.T532A	ENST00000402291	NM_001129993.1	532	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46296.1	1594	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAACTGGG	NONE	.	.	hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946	.	.	ENSP00000385579	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.74)	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,missense_variant,p.Thr532Ala,ENST00000453873,;KIAA1841,missense_variant,p.Thr532Ala,ENST00000402291,;KIAA1841,missense_variant,p.Thr532Ala,ENST00000356719,;KIAA1841,missense_variant,p.Thr532Ala,ENST00000295031,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;	1835	103	89	SUCCESS
PROM2	150696	.	GRCh37	2	95943741	95943741	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1261958274	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	54	0	ENST00000317620.9:c.1039A>G	p.Met347Val	p.M347V	ENST00000317620	NM_001165978.1	347	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS2012.1	1039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCATGGTC	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	.	.	ENSP00000318270	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000317620	Transcript	.	.	ENSG00000155066	20685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	.	deleterious(0.02)	.	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,missense_variant,p.Met347Val,ENST00000317620,;PROM2,missense_variant,p.Met347Val,ENST00000542147,;PROM2,missense_variant,p.Met347Val,ENST00000403131,;PROM2,missense_variant,p.Met347Val,ENST00000317668,;PROM2,non_coding_transcript_exon_variant,,ENST00000463580,;PROM2,downstream_gene_variant,,ENST00000477767,;PROM2,upstream_gene_variant,,ENST00000497110,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000478295,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	1172	54	46	SUCCESS
PIK3CB	5291	.	GRCh37	3	138478043	138478043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	277	75	316	0	ENST00000289153.2:c.143G>T	p.Arg48Leu	p.R48L	ENST00000289153	NM_006219.2	48	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS3104.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCGAGGT	NONE	.	.	PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Pfam_domain:PF02192,SMART_domains:SM00143	.	.	ENSP00000418143	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000477593	Transcript	.	.	ENSG00000051382	8976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	tolerated(0.23)	.	PK3CB_HUMAN	PIK3CB	HGNC	Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN	.	UPI0000046842	SNV	PIK3CB,missense_variant,p.Arg48Leu,ENST00000465581,;PIK3CB,missense_variant,p.Arg48Leu,ENST00000477593,;PIK3CB,missense_variant,p.Arg48Leu,ENST00000483968,;PIK3CB,missense_variant,p.Arg48Leu,ENST00000461451,;PIK3CB,missense_variant,p.Arg48Leu,ENST00000289153,;PIK3CB,missense_variant,p.Arg48Leu,ENST00000462898,;	217	316	353	SUCCESS
KIAA0226	0	.	GRCh37	3	197431443	197431443	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	19	133	0	ENST00000296343.5:c.433G>A	p.Asp145Asn	p.D145N	ENST00000296343	NM_014687.1	145	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS43195.1	433	RADIA|MUTECT|MUSE|VARSCANS	.	TCTATCCCCGA	NONE	.	.	PROSITE_profiles:PS50826,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343	.	.	ENSP00000296343	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000296343	Transcript	.	.	ENSG00000145016	28991	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.7)	.	RUBIC_HUMAN	KIAA0226	HGNC	B4DIJ0_HUMAN	.	UPI00001C1DE4	SNV	KIAA0226,missense_variant,p.Asp145Asn,ENST00000296343,;KIAA0226,missense_variant,p.Asp124Asn,ENST00000413360,;KIAA0226,missense_variant,p.Asp85Asn,ENST00000273582,;KIAA0226,missense_variant,p.Asp145Asn,ENST00000389665,;KIAA0226,missense_variant,p.Asp145Asn,ENST00000449205,;KIAA0226,upstream_gene_variant,,ENST00000415452,;KIAA0226,upstream_gene_variant,,ENST00000447048,;KIAA0226,non_coding_transcript_exon_variant,,ENST00000467303,;KIAA0226,non_coding_transcript_exon_variant,,ENST00000474214,;	433	133	135	SUCCESS
SETD2	29072	.	GRCh37	3	47155365	47155365	+	splice_donor_variant	Splice_Site	SNP	C	C	T	.	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	90	0	ENST00000409792.3:c.4715+1G>A		p.X1572_splice	ENST00000409792	NM_014159.6	1572		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2749.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACGAAGG	NONE	.	.	.	.	.	ENSP00000386759	.	.	.	.	.	.	.	.	.	.	COSM3069007,COSM3365356,COSM3069006,COSM3365355	.	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	HIGH	5/20	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	1,1,1,1	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,splice_donor_variant,,ENST00000409792,;SETD2,splice_donor_variant,,ENST00000445387,;SETD2,splice_donor_variant,,ENST00000330022,;SETD2,splice_donor_variant,,ENST00000431180,;	.	90	79	SUCCESS
ADH6	130	.	GRCh37	4	100140373	100140373	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	44	0	ENST00000237653.7:c.-64A>G		p.*22*	ENST00000237653	NM_000672.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43255.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTAGAAA	NONE	.	.	.	.	.	ENSP00000378359	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000394899	Transcript	.	.	ENSG00000172955	255	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADH6_HUMAN	ADH6	HGNC	Q9H1A0_HUMAN,B7ZAL1_HUMAN,B4DPD8_HUMAN	.	UPI000013CA1E	SNV	ADH6,5_prime_UTR_variant,,ENST00000237653,;ADH6,5_prime_UTR_variant,,ENST00000394899,;ADH6,5_prime_UTR_variant,,ENST00000508558,;ADH6,5_prime_UTR_variant,,ENST00000394897,;ADH6,upstream_gene_variant,,ENST00000407820,;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,intron_variant,,ENST00000506160,;RP11-696N14.1,intron_variant,,ENST00000506454,;ADH6,non_coding_transcript_exon_variant,,ENST00000513262,;ADH6,upstream_gene_variant,,ENST00000507484,;	31	44	61	SUCCESS
HNRNPD	3184	.	GRCh37	4	83294718	83294718	+	synonymous_variant	Silent	SNP	C	C	T	rs1412331228	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	42	0	ENST00000313899.7:c.114G>A	p.Ala38=	p.A38=	ENST00000313899	NM_031370.2	38	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3592.1	114	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF263,hmmpanther:PTHR24012,Pfam_domain:PF08143	.	.	ENSP00000313199	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000313899	Transcript	.	.	ENSG00000138668	5036	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HNRPD_HUMAN	HNRNPD	HGNC	F5H6R6_HUMAN,D6RF44_HUMAN,D6RAF8_HUMAN	.	UPI0000000C3F	SNV	HNRNPD,synonymous_variant,p.%3D,ENST00000503822,;HNRNPD,synonymous_variant,p.%3D,ENST00000313899,;HNRNPD,synonymous_variant,p.%3D,ENST00000507010,;HNRNPD,synonymous_variant,p.%3D,ENST00000353341,;HNRNPD,synonymous_variant,p.%3D,ENST00000352301,;HNRNPD,5_prime_UTR_variant,,ENST00000541060,;HNRNPD,intron_variant,,ENST00000515432,;HNRNPD,intron_variant,,ENST00000543098,;HNRNPD,intron_variant,,ENST00000509107,;HNRNPD,upstream_gene_variant,,ENST00000509263,;RP11-127B20.3,upstream_gene_variant,,ENST00000609575,;RP11-127B20.3,upstream_gene_variant,,ENST00000609552,;HNRNPD,synonymous_variant,p.%3D,ENST00000513584,;	392	42	40	SUCCESS
MGAT4B	11282	.	GRCh37	5	179228997	179228997	+	intron_variant	Intron	DEL	G	G	-	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	45	118	0	ENST00000292591.7:c.98-28del		p.*33*	ENST00000292591	NM_014275.4	39		0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS4449.1	115	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACGAGGGGGC	NONE	.	.	hmmpanther:PTHR12062:SF1,hmmpanther:PTHR12062	.	.	ENSP00000338487	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000337755	Transcript	.	.	ENSG00000161013	7048	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MGT4B_HUMAN	MGAT4B	HGNC	E5RFS3_HUMAN	.	UPI000015F50B	deletion	MGAT4B,frameshift_variant,p.Leu39SerfsTer2,ENST00000337755,;MGAT4B,intron_variant,,ENST00000523108,;MGAT4B,intron_variant,,ENST00000292591,;MGAT4B,upstream_gene_variant,,ENST00000520875,;MGAT4B,upstream_gene_variant,,ENST00000518778,;SQSTM1,upstream_gene_variant,,ENST00000514093,;MGAT4B,upstream_gene_variant,,ENST00000518867,;SQSTM1,upstream_gene_variant,,ENST00000376929,;MGAT4B,upstream_gene_variant,,ENST00000520969,;MGAT4B,upstream_gene_variant,,ENST00000518980,;MGAT4B,upstream_gene_variant,,ENST00000519836,;MIR1229,upstream_gene_variant,,ENST00000408467,;MGAT4B,intron_variant,,ENST00000521305,;MGAT4B,intron_variant,,ENST00000519616,;MGAT4B,intron_variant,,ENST00000520134,;SQSTM1,upstream_gene_variant,,ENST00000506042,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,upstream_gene_variant,,ENST00000523382,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,upstream_gene_variant,,ENST00000522293,;MGAT4B,frameshift_variant,p.Leu39SerfsTer2,ENST00000520918,;MGAT4B,intron_variant,,ENST00000518168,;MGAT4B,intron_variant,,ENST00000523329,;MGAT4B,upstream_gene_variant,,ENST00000520822,;MGAT4B,upstream_gene_variant,,ENST00000518702,;MGAT4B,upstream_gene_variant,,ENST00000521855,;MGAT4B,upstream_gene_variant,,ENST00000522451,;	1002	118	179	SUCCESS
ZFR	51663	.	GRCh37	5	32403465	32403465	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	45	0	ENST00000265069.8:c.1262C>T	p.Pro421Leu	p.P421L	ENST00000265069	NM_016107.3	421	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34139.1	1262	MUTECT|MUSE	.	TTGATGGAATG	NONE	.	.	hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87	.	.	ENSP00000265069	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000265069	Transcript	1	.	ENSG00000056097	17277	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	ZFR_HUMAN	ZFR	HGNC	B3KP82_HUMAN	.	UPI00001BBB38	SNV	ZFR,missense_variant,p.Pro421Leu,ENST00000265069,;ZFR,downstream_gene_variant,,ENST00000505366,;	1365	45	46	SUCCESS
GPR98	0	.	GRCh37	5	90106600	90106600	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs535921202	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	68	0	ENST00000405460.2:c.15523G>A	p.Val5175Met	p.V5175M	ENST00000405460	NM_032119.3	5175	Gtg/Atg	0	.	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS47246.1	15523	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGTGGTT	NONE	by1000G	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	A:0.001	.	ENSP00000384582	A:0	74/90	.	.	.	.	.	.	.	.	rs535921202	74/90	PASS	ENST00000405460	Transcript	1	A:0.0002	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	A:0	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Val5175Met,ENST00000405460,;GPR98,missense_variant,p.Val836Met,ENST00000425867,;GPR98,downstream_gene_variant,,ENST00000513828,;	15619	68	44	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056141	26056141	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs762627426	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	82	0	ENST00000343677.2:c.516G>C	p.Lys172Asn	p.K172N	ENST00000343677	NM_005319.3	172	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS4577.1	516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCTTAGC	BUFFER|p.A171V|c.512C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467,Prints_domain:PR00624	.	.	ENSP00000339566	.	1/1	.	.	.	.	.	.	.	.	rs762627426	1/1	PASS	ENST00000343677	Transcript	.	.	ENSG00000187837	4716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,missense_variant,p.Lys172Asn,ENST00000343677,;	559	82	90	SUCCESS
NAMPT	10135	.	GRCh37	7	105925452	105925452	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	28	0	ENST00000222553.3:c.-122T>C		p.*41*	ENST00000222553	NM_005746.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5737.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGAGAGGG	NONE	.	.	.	.	.	ENSP00000222553	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000222553	Transcript	.	.	ENSG00000105835	30092	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAMPT_HUMAN	NAMPT	HGNC	Q658Z1_HUMAN,F5H246_HUMAN,C9JG65_HUMAN,C9JF35_HUMAN	.	UPI0000131383	SNV	NAMPT,5_prime_UTR_variant,,ENST00000222553,;NAMPT,intron_variant,,ENST00000424768,;NAMPT,intron_variant,,ENST00000417537,;NAMPT,upstream_gene_variant,,ENST00000354289,;RP11-22N19.2,upstream_gene_variant,,ENST00000609281,;NAMPT,upstream_gene_variant,,ENST00000393618,;NAMPT,upstream_gene_variant,,ENST00000441045,;NAMPT,upstream_gene_variant,,ENST00000489358,;NAMPT,upstream_gene_variant,,ENST00000484527,;NAMPT,upstream_gene_variant,,ENST00000486949,;NAMPT,upstream_gene_variant,,ENST00000489732,;NAMPT,upstream_gene_variant,,ENST00000491027,;	187	28	21	SUCCESS
KDM7A	80853	.	GRCh37	7	139791663	139791663	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	27	149	1	ENST00000397560.2:c.2672T>G	p.Leu891Arg	p.L891R	ENST00000397560	NM_030647.1	891	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS43658.1	2672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAAGGGGC	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15	.	.	ENSP00000380692	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000397560	Transcript	.	.	ENSG00000006459	22224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KDM7_HUMAN	KDM7A	HGNC	.	.	UPI000045761B	SNV	KDM7A,missense_variant,p.Leu891Arg,ENST00000397560,;KDM7A,downstream_gene_variant,,ENST00000006967,;Y_RNA,downstream_gene_variant,,ENST00000515919,;KDM7A,3_prime_UTR_variant,,ENST00000472616,;KDM7A,non_coding_transcript_exon_variant,,ENST00000478996,;	2770	150	147	SUCCESS
TRBV20-1	28567	.	GRCh37	7	142334833	142334833	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	47	0	ENST00000390394.3:c.255T>C	p.His85=	p.H85=	ENST00000390394		85	caT/caC	0	.	.	.	.	.	C	H	TR_V_gene	YES	.	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCATGCAAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF11,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000374917	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390394	Transcript	.	.	ENSG00000211747	12196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TRBV20-1	HGNC	.	.	UPI0001B79291	SNV	TRBV20-1,synonymous_variant,p.%3D,ENST00000390394,;	333	47	48	SUCCESS
UBE3C	9690	.	GRCh37	7	157046730	157046730	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	16	93	0	ENST00000348165.5:c.2777A>G	p.Tyr926Cys	p.Y926C	ENST00000348165	NM_014671.2	926	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34789.1	2777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTACAGGC	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Gene3D:1c4zA02,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85,PROSITE_profiles:PS50237	.	.	ENSP00000309198	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000348165	Transcript	.	.	ENSG00000009335	16803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UBE3C_HUMAN	UBE3C	HGNC	.	.	UPI000020E72A	SNV	UBE3C,missense_variant,p.Tyr926Cys,ENST00000348165,;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,upstream_gene_variant,,ENST00000474153,;	3137	93	100	SUCCESS
AGR3	155465	.	GRCh37	7	16900171	16900171	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	123	0	ENST00000310398.2:c.404G>C	p.Arg135Thr	p.R135T	ENST00000310398	NM_176813.3	135	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS5365.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATCTTCCA	NONE	.	.	hmmpanther:PTHR15337,hmmpanther:PTHR15337:SF5,Superfamily_domains:SSF52833	.	.	ENSP00000308606	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000310398	Transcript	.	.	ENSG00000173467	24167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	deleterious(0.02)	.	AGR3_HUMAN	AGR3	HGNC	.	.	UPI0000040D21	SNV	AGR3,missense_variant,p.Arg135Thr,ENST00000310398,;AGR3,missense_variant,p.Arg135Thr,ENST00000402239,;AGR3,missense_variant,p.Arg114Thr,ENST00000414935,;RAD17P1,downstream_gene_variant,,ENST00000418130,;	475	123	104	SUCCESS
GLI3	2737	.	GRCh37	7	42085105	42085105	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	45	0	ENST00000395925.3:c.704C>G	p.Ala235Gly	p.A235G	ENST00000395925	NM_000168.5	235	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS5465.1	704	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGCTGGG	NONE	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	6/15	.	.	.	.	.	.	.	.	COSM94382	6/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.997)	.	deleterious(0.03)	1	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Ala235Gly,ENST00000395925,;GLI3,downstream_gene_variant,,ENST00000448703,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	789	45	43	SUCCESS
C7orf25	79020	.	GRCh37	7	42949496	42949496	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	30	143	0	ENST00000350427.4:c.1004A>C	p.Asn335Thr	p.N335T	ENST00000350427		335	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS47576.1	1178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATTAATT	NONE	.	.	Pfam_domain:PF07000,hmmpanther:PTHR13379	.	.	ENSP00000416290	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431882	Transcript	.	.	ENSG00000136197	21703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.7)	.	CG025_HUMAN	C7orf25	HGNC	C9K0L6_HUMAN,C9JF90_HUMAN	.	UPI000159689A	SNV	C7orf25,missense_variant,p.Asn393Thr,ENST00000431882,;C7orf25,missense_variant,p.Asn335Thr,ENST00000438029,;C7orf25,missense_variant,p.Asn335Thr,ENST00000350427,;C7orf25,missense_variant,p.Asn335Thr,ENST00000447342,;C7orf25,downstream_gene_variant,,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;PSMA2,3_prime_UTR_variant,,ENST00000442788,;PSMA2,downstream_gene_variant,,ENST00000433579,;	1201	143	190	SUCCESS
ADCY1	107	.	GRCh37	7	45614382	45614407	+	frameshift_variant	Frame_Shift_Del	DEL	GCTGGGCGCGCCGGGGCCCGCGCCCG	GCTGGGCGCGCCGGGGCCCGCGCCCG	-	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	GCTGGGCGCGCCGGGGCCCGCGCCCG	GCTGGGCGCGCCGGGGCCCGCGCCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	32	0	ENST00000297323.7:c.242_267del	p.Leu81ProfsTer147	p.L81Pfs*147	ENST00000297323	NM_021116.2	80	ctGCTGGGCGCGCCGGGGCCCGCGCCCGgc/ctgc	0	.	.	.	.	.	-	LLGAPGPAPG/LX	protein_coding	YES	CCDS34631.1	240-265	VARSCANI*|PINDEL	.	CGAGCTGCTGGGCGCGCCGGGGCCCGCGCCCGGCCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920	.	.	ENSP00000297323	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	deletion	ADCY1,frameshift_variant,p.Leu81ProfsTer147,ENST00000297323,;ADCY1,intron_variant,,ENST00000432715,;	262-287	32	53	SUCCESS
UPP1	7378	.	GRCh37	7	48141467	48141467	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1189822034	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	67	0	ENST00000331803.4:c.209G>A	p.Arg70Lys	p.R70K	ENST00000331803	NM_001287426.1	70	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS5507.1	209	MUTECT|MUSE	.	CATCAGGTGCG	NONE	.	.	hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF15,Gene3D:3.40.50.1580,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01719,Superfamily_domains:SSF53167	.	.	ENSP00000330032	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000331803	Transcript	.	.	ENSG00000183696	12576	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.94)	.	UPP1_HUMAN	UPP1	HGNC	C9K0J2_HUMAN,C9JIP2_HUMAN,C9J486_HUMAN	.	UPI0000137AC5	SNV	UPP1,missense_variant,p.Arg70Lys,ENST00000436673,;UPP1,missense_variant,p.Arg70Lys,ENST00000416681,;UPP1,missense_variant,p.Arg70Lys,ENST00000331803,;UPP1,missense_variant,p.Arg70Lys,ENST00000341253,;UPP1,missense_variant,p.Arg70Lys,ENST00000395564,;UPP1,intron_variant,,ENST00000429491,;UPP1,downstream_gene_variant,,ENST00000432131,;UPP1,splice_region_variant,,ENST00000482015,;UPP1,missense_variant,p.Ser70Asn,ENST00000444999,;UPP1,missense_variant,p.Arg70Lys,ENST00000421046,;UPP1,intron_variant,,ENST00000457596,;UPP1,intron_variant,,ENST00000417464,;UPP1,intron_variant,,ENST00000395560,;UPP1,upstream_gene_variant,,ENST00000495446,;	832	67	61	SUCCESS
UBR5	51366	.	GRCh37	8	103282405	103282405	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	82	0	ENST00000520539.1:c.7092T>C	p.Phe2364=	p.F2364=	ENST00000520539	NM_015902.5	2364	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS34933.1	7092	MUTECT|MUSE	.	CTTCTAAAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254,Superfamily_domains:SSF63570	.	.	ENSP00000429084	.	50/59	.	.	.	.	.	.	.	.	.	50/59	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,synonymous_variant,p.%3D,ENST00000520539,;UBR5,synonymous_variant,p.%3D,ENST00000220959,;UBR5,synonymous_variant,p.%3D,ENST00000521922,;UBR5,synonymous_variant,p.%3D,ENST00000518205,;UBR5,downstream_gene_variant,,ENST00000521566,;UBR5,upstream_gene_variant,,ENST00000521767,;UBR5,upstream_gene_variant,,ENST00000521312,;	7699	82	148	SUCCESS
PREX2	80243	.	GRCh37	8	69020463	69020463	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	13	97	0	ENST00000288368.4:c.2835T>A	p.Val945=	p.V945=	ENST00000288368	NM_024870.2	945	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6201.1	2835	MUTECT|MUSE	.	GAAGTTTCTTA	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;	3112	97	146	SUCCESS
ZNF883	169834	.	GRCh37	9	115760613	115760613	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	21	0	ENST00000427548.1:n.1201A>T		p.*401*	ENST00000427548				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	TTTCATTTATT	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000427548	Transcript	.	.	ENSG00000228623	27271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF883	HGNC	.	.	.	SNV	ZNF883,non_coding_transcript_exon_variant,,ENST00000427548,;	1201	21	15	SUCCESS
IGSF1	3547	.	GRCh37	X	130417074	130417074	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	416	22	418	0	ENST00000361420.3:c.832G>T	p.Glu278Ter	p.E278*	ENST00000361420		278	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS55491.1	832	MUTECT|MUSE	.	TGCCTCATTTT	NONE	.	.	Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359940	.	6/20	.	.	.	.	.	.	.	.	COSM1715546	6/20	PASS	ENST00000370903	Transcript	.	.	ENSG00000147255	5948	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	IGSF1_HUMAN	IGSF1	HGNC	.	.	UPI0000E0C769	SNV	IGSF1,stop_gained,p.Glu278Ter,ENST00000361420,;IGSF1,stop_gained,p.Glu269Ter,ENST00000370904,;IGSF1,stop_gained,p.Glu269Ter,ENST00000370910,;IGSF1,stop_gained,p.Glu278Ter,ENST00000370903,;IGSF1,downstream_gene_variant,,ENST00000370900,;IGSF1,downstream_gene_variant,,ENST00000370901,;IGSF1,upstream_gene_variant,,ENST00000469836,;	1115	418	438	SUCCESS
GPR112	0	.	GRCh37	X	135427007	135427007	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs867387521	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	30	188	0	ENST00000370652.1:c.1142A>G	p.Lys381Arg	p.K381R	ENST00000370652		381	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS35409.1	1142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAAGAATT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	deleterious(0.04)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Lys318Arg,ENST00000287534,;GPR112,missense_variant,p.Lys381Arg,ENST00000370652,;GPR112,missense_variant,p.Lys381Arg,ENST00000394143,;GPR112,missense_variant,p.Lys176Arg,ENST00000394141,;GPR112,missense_variant,p.Lys176Arg,ENST00000412101,;	1433	189	154	SUCCESS
TXLNG	55787	.	GRCh37	X	16836781	16836782	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	463	78	427	0	ENST00000380122.5:c.189dup	p.Leu64SerfsTer13	p.L64Sfs*13	ENST00000380122	NM_018360.2	63	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS14178.1	187-188	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGATATTCTT	NONE	.	.	hmmpanther:PTHR16127:SF14,hmmpanther:PTHR16127	.	.	ENSP00000369465	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000380122	Transcript	.	.	ENSG00000086712	18578	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TXLNG_HUMAN	TXLNG	HGNC	.	.	UPI00001AE847	insertion	TXLNG,frameshift_variant,p.Leu64SerfsTer13,ENST00000380122,;TXLNG,intron_variant,,ENST00000398155,;	248-249	427	541	SUCCESS
YY2	404281	.	GRCh37	X	21875452	21875452	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762217625	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	37	144	0	ENST00000429584.2:c.850G>T	p.Val284Leu	p.V284L	ENST00000429584	NM_206923.3	284	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS14202.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGTATGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR14003:SF9,hmmpanther:PTHR14003,Gene3D:3.30.160.60,SMART_domains:SM00355,PIRSF_domain:PIRSF037113	.	.	ENSP00000389381	.	1/1	.	.	.	.	.	.	.	.	rs762217625	1/1	PASS	ENST00000429584	Transcript	.	.	ENSG00000230797	31684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	deleterious(0)	.	TYY2_HUMAN	YY2	HGNC	.	.	UPI000006CE0D	SNV	YY2,missense_variant,p.Val284Leu,ENST00000429584,;MBTPS2,intron_variant,,ENST00000365779,;MBTPS2,intron_variant,,ENST00000379484,;MBTPS2,non_coding_transcript_exon_variant,,ENST00000465888,;	1348	144	171	SUCCESS
FAM47A	158724	.	GRCh37	X	34148744	34148744	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	67	0	ENST00000346193.3:c.1652G>A	p.Arg551His	p.R551H	ENST00000346193	NM_203408.3	551	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43926.1	1652	MUTECT|MUSE	.	CCCGACGACTC	NONE	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	COSM3939973	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.923)	.	tolerated(0.08)	1	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Arg551His,ENST00000346193,;	1704	67	101	SUCCESS
SSX9	0	.	GRCh37	X	48163740	48163740	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs782217036	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	460	109	556	0	ENST00000407081.2:n.193G>T		p.*65*	ENST00000407081				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCTTTCT	NONE	.	.	.	.	.	.	.	3/7	.	.	.	.	.	.	.	.	rs782217036	3/7	PASS	ENST00000407081	Transcript	.	.	ENSG00000204648	19655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SSX9	HGNC	.	.	.	SNV	SSX9,non_coding_transcript_exon_variant,,ENST00000608568,;SSX9,non_coding_transcript_exon_variant,,ENST00000407081,;SSX9,non_coding_transcript_exon_variant,,ENST00000376909,;RP11-344N17.6,upstream_gene_variant,,ENST00000453735,;	193	556	570	SUCCESS
GRIPAP1	56850	.	GRCh37	X	48840243	48840243	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	16	92	0	ENST00000376423.4:c.1057C>A	p.Gln353Lys	p.Q353K	ENST00000376423	NM_207672.1	353	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS35248.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGAAGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18978:SF1,hmmpanther:PTHR18978	.	.	ENSP00000365624	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000376441	Transcript	.	.	ENSG00000068400	18706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	.	.	GRAP1_HUMAN	GRIPAP1	HGNC	.	.	UPI000035AC76	SNV	GRIPAP1,missense_variant,p.Gln353Lys,ENST00000376423,;GRIPAP1,missense_variant,p.Gln406Lys,ENST00000376441,;GRIPAP1,missense_variant,p.Gln375Lys,ENST00000376425,;GRIPAP1,missense_variant,p.Gln361Lys,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000474512,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,upstream_gene_variant,,ENST00000488361,;	1251	92	84	SUCCESS
TRO	7216	.	GRCh37	X	54949797	54949797	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	58	252	0	ENST00000173898.7:c.832C>A	p.Leu278Ile	p.L278I	ENST00000173898	NM_001039705.2	278	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS43959.1	832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCTAAAT	NONE	.	.	hmmpanther:PTHR11736:SF57,hmmpanther:PTHR11736	.	.	ENSP00000173898	.	3/13	.	.	.	.	.	.	.	.	COSM1468714,COSM1468713	3/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	1,1	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,missense_variant,p.Leu278Ile,ENST00000375022,;TRO,missense_variant,p.Leu278Ile,ENST00000319167,;TRO,missense_variant,p.Leu278Ile,ENST00000173898,;TRO,intron_variant,,ENST00000431115,;TRO,intron_variant,,ENST00000399736,;TRO,intron_variant,,ENST00000375041,;TRO,intron_variant,,ENST00000420798,;TRO,downstream_gene_variant,,ENST00000411534,;TRO,downstream_gene_variant,,ENST00000449980,;TRO,downstream_gene_variant,,ENST00000430420,;TRO,downstream_gene_variant,,ENST00000440759,;TRO,downstream_gene_variant,,ENST00000440072,;TRO,downstream_gene_variant,,ENST00000427099,;TRO,downstream_gene_variant,,ENST00000453081,;TRO,downstream_gene_variant,,ENST00000442098,;TRO,downstream_gene_variant,,ENST00000416704,;TRO,downstream_gene_variant,,ENST00000452830,;SNORA11,upstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000484031,;TRO,upstream_gene_variant,,ENST00000492142,;TRO,downstream_gene_variant,,ENST00000474933,;TRO,upstream_gene_variant,,ENST00000475183,;TRO,missense_variant,p.Leu278Ile,ENST00000445561,;TRO,upstream_gene_variant,,ENST00000492706,;TRO,upstream_gene_variant,,ENST00000469211,;	944	252	280	SUCCESS
LBX1	10660	.	GRCh37	10	102988325	102988325	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1424100964	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	24	40	0	ENST00000370193.2:c.248C>T	p.Ser83Leu	p.S83L	ENST00000370193	NM_006562.4	83	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS31270.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGAGGTC	NONE	.	.	hmmpanther:PTHR24336:SF7,hmmpanther:PTHR24336	.	.	ENSP00000359212	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000370193	Transcript	.	.	ENSG00000138136	16960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	LBX1_HUMAN	LBX1	HGNC	Q6LBH2_HUMAN	.	UPI00001F95A1	SNV	LBX1,missense_variant,p.Ser83Leu,ENST00000370193,;LBX1-AS1,upstream_gene_variant,,ENST00000546988,;LBX1-AS1,upstream_gene_variant,,ENST00000547077,;LBX1-AS1,upstream_gene_variant,,ENST00000454527,;	1227	40	33	SUCCESS
PPRC1	23082	.	GRCh37	10	103898443	103898443	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	31	55	0	ENST00000278070.2:c.410A>G	p.Asn137Ser	p.N137S	ENST00000278070	NM_015062.3	137	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7529.1	410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAATGCAG	NONE	.	.	hmmpanther:PTHR15528:SF5,hmmpanther:PTHR15528	.	.	ENSP00000278070	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000278070	Transcript	.	.	ENSG00000148840	30025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.23)	.	PPRC1_HUMAN	PPRC1	HGNC	.	.	UPI000013DB5C	SNV	PPRC1,missense_variant,p.Asn137Ser,ENST00000413464,;PPRC1,missense_variant,p.Asn137Ser,ENST00000278070,;PPRC1,upstream_gene_variant,,ENST00000370012,;PPRC1,upstream_gene_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000462933,;	449	55	50	SUCCESS
C10orf118	0	.	GRCh37	10	115922915	115922915	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	42	54	0	ENST00000369287.3:c.113T>C	p.Leu38Ser	p.L38S	ENST00000369287	NM_018017.2	38	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS7587.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTAATTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18911	.	.	ENSP00000358293	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000369287	Transcript	.	.	ENSG00000165813	24349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.553)	.	deleterious_low_confidence(0.02)	.	CJ118_HUMAN	C10orf118	HGNC	Q496Y1_HUMAN	.	UPI00001D3EF5	SNV	C10orf118,missense_variant,p.Leu38Ser,ENST00000369287,;C10orf118,missense_variant,p.Leu38Ser,ENST00000369285,;C10orf118,missense_variant,p.Leu38Ser,ENST00000369286,;	380	54	66	SUCCESS
WDFY4	57705	.	GRCh37	10	49917835	49917835	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	35	71	0	ENST00000325239.5:c.58A>C	p.Asn20His	p.N20H	ENST00000325239	NM_020945.1	20	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS44385.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAAATGAA	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	1/61	.	.	.	.	.	.	.	.	.	1/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.08)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Asn20His,ENST00000413659,;WDFY4,missense_variant,p.Asn20His,ENST00000325239,;WDFY4,missense_variant,p.Asn20His,ENST00000360890,;	85	71	70	SUCCESS
FAM149B1	317662	.	GRCh37	10	74992895	74992895	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	40	0	ENST00000242505.6:c.1326G>T	p.Val442=	p.V442=	ENST00000242505	NM_173348.1	442	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44435.1	1326	MUTECT|MUSE	.	TCTGTGGAAGA	NONE	.	.	hmmpanther:PTHR31997:SF0,hmmpanther:PTHR31997	.	.	ENSP00000242505	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000242505	Transcript	.	.	ENSG00000138286	29162	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F149B_HUMAN	FAM149B1	HGNC	.	.	UPI00001617A8	SNV	FAM149B1,synonymous_variant,p.%3D,ENST00000445951,;FAM149B1,synonymous_variant,p.%3D,ENST00000372955,;FAM149B1,synonymous_variant,p.%3D,ENST00000242505,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,intron_variant,,ENST00000470798,;FAM149B1,downstream_gene_variant,,ENST00000607940,;FAM149B1,synonymous_variant,p.%3D,ENST00000475829,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000466261,;FAM149B1,upstream_gene_variant,,ENST00000468462,;	1500	40	42	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120319893	120319894	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GGAG	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	88	0	ENST00000397843.2:c.1814_1817dup	p.Pro607GlufsTer6	p.P607Efs*6	ENST00000397843	NM_015313.2	605	cgg/cGGAGgg	0	.	.	.	.	.	GGAG	R/RRX	protein_coding	YES	CCDS41727.1	1813-1814	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCACGGAGA	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8	.	.	ENSP00000380942	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	insertion	ARHGEF12,frameshift_variant,p.Pro504GlufsTer6,ENST00000532993,;ARHGEF12,frameshift_variant,p.Pro607GlufsTer6,ENST00000397843,;ARHGEF12,frameshift_variant,p.Pro588GlufsTer6,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000532823,;ARHGEF12,downstream_gene_variant,,ENST00000525960,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;	1979-1980	88	113	SUCCESS
PIK3C2A	5286	.	GRCh37	11	17118722	17118722	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs938273771	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	66	85	1	ENST00000265970.7:c.4208C>T	p.Ser1403Phe	p.S1403F	ENST00000265970	NM_002645.2	1403	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7824.1	4208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTAGAAGGA	NONE	.	.	.	.	.	ENSP00000265970	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000265970	Transcript	.	.	ENSG00000011405	8971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	P3C2A_HUMAN	PIK3C2A	HGNC	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN	.	UPI000013D6B3	SNV	PIK3C2A,missense_variant,p.Ser1023Phe,ENST00000540361,;PIK3C2A,missense_variant,p.Ser1403Phe,ENST00000265970,;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;	4208	86	117	SUCCESS
RP11-304M2.3	0	.	GRCh37	11	180291	180291	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	119	0	ENST00000527297.1:n.355-5611G>T		p.*119*	ENST00000527297				0	.	.	.	.	.	T	.	antisense	YES	.	.	RADIA|VARSCANS	.	AGCGGGAAGTT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000527297	Transcript	.	.	ENSG00000255229	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-304M2.3	Clone_based_vega_gene	.	.	.	SNV	BET1L,missense_variant,p.Phe94Leu,ENST00000410108,;RP11-304M2.3,intron_variant,,ENST00000527297,;	.	119	79	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33689596	33689596	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	47	67	0	ENST00000321505.4:c.5446G>T	p.Ala1816Ser	p.A1816S	ENST00000321505		1816	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS44565.2	5446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGCTCCC	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	deleterious(0.03)	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,missense_variant,p.Ala1816Ser,ENST00000321505,;KIAA1549L,missense_variant,p.Ala1822Ser,ENST00000389726,;RP4-541C22.5,intron_variant,,ENST00000534431,;	5626	67	88	SUCCESS
ZNF408	79797	.	GRCh37	11	46726573	46726573	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	59	0	ENST00000311764.2:c.1323G>T	p.Gln441His	p.Q441H	ENST00000311764	NM_024741.2	441	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7923.1	1323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGTGTGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF175,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000309606	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311764	Transcript	.	.	ENSG00000175213	20041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.1)	.	ZN408_HUMAN	ZNF408	HGNC	.	.	UPI0000132189	SNV	ZNF408,missense_variant,p.Gln441His,ENST00000311764,;ARHGAP1,upstream_gene_variant,,ENST00000311956,;ZNF408,downstream_gene_variant,,ENST00000534481,;ZNF408,downstream_gene_variant,,ENST00000531866,;ZNF408,downstream_gene_variant,,ENST00000527008,;ZNF408,downstream_gene_variant,,ENST00000526410,;ARHGAP1,upstream_gene_variant,,ENST00000529960,;ARHGAP1,upstream_gene_variant,,ENST00000524594,;	1553	59	83	SUCCESS
TM7SF2	7108	.	GRCh37	11	64880286	64880286	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	160	0	ENST00000279263.7:c.253G>C	p.Ala85Pro	p.A85P	ENST00000279263	NM_003273.3	85	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS41669.1	253	MUTECT|MUSE	.	AGGTGGCCGAG	NONE	.	.	hmmpanther:PTHR21257,Pfam_domain:PF01222	.	.	ENSP00000279263	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000279263	Transcript	.	.	ENSG00000149809	11863	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.811)	.	tolerated(0.09)	.	ERG24_HUMAN	TM7SF2	HGNC	F5GYV3_HUMAN,E9PRQ1_HUMAN,E9PLI3_HUMAN	.	UPI000013DBC4	SNV	TM7SF2,missense_variant,p.Ala85Pro,ENST00000530750,;TM7SF2,missense_variant,p.Ala85Pro,ENST00000279263,;TM7SF2,missense_variant,p.Ala56Pro,ENST00000524986,;TM7SF2,missense_variant,p.Ala85Pro,ENST00000345348,;TM7SF2,missense_variant,p.Ala56Pro,ENST00000531321,;TM7SF2,missense_variant,p.Ala56Pro,ENST00000525385,;TM7SF2,missense_variant,p.Ala85Pro,ENST00000529414,;TM7SF2,intron_variant,,ENST00000526085,;TM7SF2,intron_variant,,ENST00000534371,;TM7SF2,intron_variant,,ENST00000526809,;TM7SF2,intron_variant,,ENST00000540748,;ZNHIT2,downstream_gene_variant,,ENST00000310597,;VPS51,downstream_gene_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000527968,;TM7SF2,upstream_gene_variant,,ENST00000528802,;VPS51,downstream_gene_variant,,ENST00000279281,;VPS51,downstream_gene_variant,,ENST00000530773,;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000526578,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.9,upstream_gene_variant,,ENST00000528887,;AP003068.12,upstream_gene_variant,,ENST00000527789,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000531029,;TM7SF2,intron_variant,,ENST00000533646,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,missense_variant,p.Ala85Pro,ENST00000529292,;TM7SF2,missense_variant,p.Ala75Pro,ENST00000524690,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533766,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000529233,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000527851,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530650,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530892,;TM7SF2,intron_variant,,ENST00000529601,;TM7SF2,intron_variant,,ENST00000528026,;TM7SF2,upstream_gene_variant,,ENST00000532328,;TM7SF2,upstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;VPS51,downstream_gene_variant,,ENST00000534124,;VPS51,downstream_gene_variant,,ENST00000531146,;VPS51,downstream_gene_variant,,ENST00000533487,;VPS51,downstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000534667,;	415	160	148	SUCCESS
MAP3K11	4296	.	GRCh37	11	65367010	65367010	+	synonymous_variant	Silent	SNP	C	C	A	rs767989362	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	51	0	ENST00000309100.3:c.2061G>T	p.Pro687=	p.P687=	ENST00000309100	NM_002419.3	687	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8107.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTCGGGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000556	.	.	ENSP00000309597	.	9/10	.	.	.	.	.	.	.	.	rs767989362	9/10	PASS	ENST00000309100	Transcript	.	.	ENSG00000173327	6850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,synonymous_variant,p.%3D,ENST00000532507,;MAP3K11,synonymous_variant,p.%3D,ENST00000309100,;MAP3K11,synonymous_variant,p.%3D,ENST00000530153,;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000340313,;KCNK7,upstream_gene_variant,,ENST00000394216,;KCNK7,upstream_gene_variant,,ENST00000394217,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,;	2547	52	68	SUCCESS
C11orf24	53838	.	GRCh37	11	68029831	68029831	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs567702264	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	36	117	0	ENST00000304271.6:c.632C>T	p.Ala211Val	p.A211V	ENST00000304271	NM_022338.3	211	gCc/gTc	0	.	C:0	.	C:0	.	A	A/V	protein_coding	YES	CCDS8180.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGGCCAAT	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16021:SF9,hmmpanther:PTHR16021	C:0	.	ENSP00000307264	C:0	4/4	.	.	.	.	.	.	.	.	rs567702264,COSM3452419	4/4	PASS	ENST00000304271	Transcript	.	C:0.0002	ENSG00000171067	1174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.866)	C:0.001	tolerated(0.12)	0,1	CK024_HUMAN	C11orf24	HGNC	E9PI63_HUMAN	.	UPI000006E42A	SNV	C11orf24,missense_variant,p.Ala211Val,ENST00000304271,;C11orf24,intron_variant,,ENST00000533310,;C11orf24,downstream_gene_variant,,ENST00000527280,;C11orf24,intron_variant,,ENST00000531745,;C11orf24,downstream_gene_variant,,ENST00000529590,;C11orf24,downstream_gene_variant,,ENST00000532534,;C11orf24,downstream_gene_variant,,ENST00000530166,;	1035	117	119	SUCCESS
C11orf24	53838	.	GRCh37	11	68029832	68029832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	118	0	ENST00000304271.6:c.631G>T	p.Ala211Ser	p.A211S	ENST00000304271	NM_022338.3	211	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8180.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCAATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16021:SF9,hmmpanther:PTHR16021	.	.	ENSP00000307264	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304271	Transcript	.	.	ENSG00000171067	1174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(0.1)	.	CK024_HUMAN	C11orf24	HGNC	E9PI63_HUMAN	.	UPI000006E42A	SNV	C11orf24,missense_variant,p.Ala211Ser,ENST00000304271,;C11orf24,intron_variant,,ENST00000533310,;C11orf24,downstream_gene_variant,,ENST00000527280,;C11orf24,intron_variant,,ENST00000531745,;C11orf24,downstream_gene_variant,,ENST00000529590,;C11orf24,downstream_gene_variant,,ENST00000532534,;C11orf24,downstream_gene_variant,,ENST00000530166,;	1034	118	118	SUCCESS
DHCR7	1717	.	GRCh37	11	71146549	71146549	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs375187933	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	46	0	ENST00000355527.3:c.1300A>G	p.Ile434Val	p.I434V	ENST00000355527	NM_001360.2	434	Atc/Gtc	0	C:0.0002	.	.	.	.	C	I/V	protein_coding	YES	CCDS8200.1	1300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATGATGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF22,Pfam_domain:PF01222	.	C:0	ENSP00000347717	.	9/9	.	.	.	.	.	.	.	.	rs375187933	9/9	PASS	ENST00000355527	Transcript	.	.	ENSG00000172893	2860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.44)	.	DHCR7_HUMAN	DHCR7	HGNC	E9PRL8_HUMAN,E9PQ71_HUMAN,E9PJ54_HUMAN,E9PIP9_HUMAN,B4E1K5_HUMAN	.	UPI00000310C7	SNV	DHCR7,missense_variant,p.Ile434Val,ENST00000407721,;DHCR7,missense_variant,p.Ile184Val,ENST00000533800,;DHCR7,missense_variant,p.Ile434Val,ENST00000355527,;DHCR7,3_prime_UTR_variant,,ENST00000525137,;DHCR7,intron_variant,,ENST00000534795,;DHCR7,downstream_gene_variant,,ENST00000527316,;DHCR7,downstream_gene_variant,,ENST00000534701,;	1577	46	78	SUCCESS
SLCO2B1	11309	.	GRCh37	11	74915600	74915600	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	53	0	ENST00000289575.5:c.2105A>G	p.Lys702Arg	p.K702R	ENST00000289575	NM_007256.4	702	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS8235.1	2105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAAGAAGC	NONE	.	.	hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87	.	.	ENSP00000289575	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000289575	Transcript	.	.	ENSG00000137491	10962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated_low_confidence(0.2)	.	SO2B1_HUMAN	SLCO2B1	HGNC	E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN	.	UPI000013DF8A	SNV	SLCO2B1,missense_variant,p.Lys475Arg,ENST00000454962,;SLCO2B1,missense_variant,p.Lys475Arg,ENST00000341411,;SLCO2B1,missense_variant,p.Lys702Arg,ENST00000289575,;SLCO2B1,missense_variant,p.Lys586Arg,ENST00000532236,;SLCO2B1,missense_variant,p.Lys558Arg,ENST00000525650,;SLCO2B1,missense_variant,p.Lys680Arg,ENST00000428359,;SLCO2B1,downstream_gene_variant,,ENST00000531756,;CTD-2562J17.4,downstream_gene_variant,,ENST00000530792,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530015,;SLCO2B1,downstream_gene_variant,,ENST00000530012,;SLCO2B1,downstream_gene_variant,,ENST00000528108,;	2500	53	77	SUCCESS
LRRC32	2615	.	GRCh37	11	76372365	76372365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	56	0	ENST00000260061.5:c.272G>T	p.Gly91Val	p.G91V	ENST00000260061	NM_001128922.1	91	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS8245.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCCTGGC	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00368,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24365:SF237,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	.	.	ENSP00000384126	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000407242	Transcript	.	.	ENSG00000137507	4161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	LRC32_HUMAN	LRRC32	HGNC	C9JYU3_HUMAN	.	UPI000012B0DF	SNV	LRRC32,missense_variant,p.Gly91Val,ENST00000260061,;LRRC32,missense_variant,p.Gly91Val,ENST00000407242,;LRRC32,missense_variant,p.Gly91Val,ENST00000421973,;LRRC32,missense_variant,p.Gly91Val,ENST00000404995,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	515	57	78	SUCCESS
CNTN5	53942	.	GRCh37	11	99942502	99942502	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775343047	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	84	0	ENST00000524871.1:c.1365G>T	p.Met455Ile	p.M455I	ENST00000524871	NM_014361.3	455	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS53696.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGTATCA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	12/25	.	.	.	.	.	.	.	.	rs775343047	12/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated(0.07)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Met455Ile,ENST00000279463,;CNTN5,missense_variant,p.Met455Ile,ENST00000524871,;CNTN5,missense_variant,p.Met455Ile,ENST00000528682,;CNTN5,missense_variant,p.Met455Ile,ENST00000527185,;CNTN5,missense_variant,p.Met381Ile,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000527682,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	1655	84	118	SUCCESS
PRDM4	11108	.	GRCh37	12	108128174	108128174	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	69	142	0	ENST00000228437.5:c.2219T>C	p.Leu740Pro	p.L740P	ENST00000228437	NM_012406.3	740	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9115.1	2219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTAGATAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF112,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,PIRSF_domain:PIRSF037161	.	.	ENSP00000228437	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000228437	Transcript	.	.	ENSG00000110851	9348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	PRDM4_HUMAN	PRDM4	HGNC	F8VRG2_HUMAN	.	UPI000013217D	SNV	PRDM4,missense_variant,p.Leu740Pro,ENST00000228437,;RP11-864J10.4,upstream_gene_variant,,ENST00000546829,;RP11-864J10.4,upstream_gene_variant,,ENST00000546714,;PRDM4,3_prime_UTR_variant,,ENST00000550376,;	2679	142	161	SUCCESS
CCDC63	160762	.	GRCh37	12	111345151	111345151	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371014584	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	37	0	ENST00000308208.5:c.1563C>A	p.Asp521Glu	p.D521E	ENST00000308208	NM_152591.1	521	gaC/gaA	0	T:0.0002	.	.	.	.	A	D/E	protein_coding	YES	CCDS9151.1	1563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACCACAG	NONE	byCluster	.	hmmpanther:PTHR21694:SF20,hmmpanther:PTHR21694	.	T:0	ENSP00000312399	.	12/12	.	.	.	.	.	.	.	.	rs371014584	12/12	PASS	ENST00000308208	Transcript	.	.	ENSG00000173093	26669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(0.07)	.	CCD63_HUMAN	CCDC63	HGNC	G3V217_HUMAN,B4DY03_HUMAN	.	UPI000006F794	SNV	CCDC63,missense_variant,p.Asp521Glu,ENST00000308208,;CCDC63,missense_variant,p.Asp442Glu,ENST00000552694,;CCDC63,missense_variant,p.Asp481Glu,ENST00000545036,;MYL2,downstream_gene_variant,,ENST00000548438,;MYL2,downstream_gene_variant,,ENST00000228841,;	1805	37	47	SUCCESS
ETNK1	55500	.	GRCh37	12	22837867	22837901	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	TGCATTAAAAGTGCCTGAGTAAAGAAGAGATTTAA	TGCATTAAAAGTGCCTGAGTAAAGAAGAGATTTAA	-	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	TGCATTAAAAGTGCCTGAGTAAAGAAGAGATTTAA	TGCATTAAAAGTGCCTGAGTAAAGAAGAGATTTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	85	0	ENST00000266517.4:c.1339_*14del		p.*447*	ENST00000266517	NM_018638.4	446		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8698.1	1338-?	INDELOCATOR*|PINDEL	.	GGTTACTGCATTAAAAGTGCCTGAGTAAAGAAGAGATTTAATTATT	NONE	.	.	.	.	.	ENSP00000266517	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000266517	Transcript	.	.	ENSG00000139163	24649	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EKI1_HUMAN	ETNK1	HGNC	.	.	UPI0000129E2F	deletion	ETNK1,coding_sequence_variant,,ENST00000266517,;ETNK1,3_prime_UTR_variant,,ENST00000538218,;ETNK1,downstream_gene_variant,,ENST00000544191,;	1427-1461	85	74	SUCCESS
METTL20	0	.	GRCh37	12	31815050	31815050	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774122156	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	49	98	0	ENST00000357721.3:c.163A>T	p.Thr55Ser	p.T55S	ENST00000357721	NM_001135863.1	55	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS8724.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACACTGAA	NONE	.	.	hmmpanther:PTHR18895:SF3,hmmpanther:PTHR18895,Superfamily_domains:SSF53335	.	.	ENSP00000350353	.	2/4	.	.	.	.	.	.	.	.	rs774122156	2/4	PASS	ENST00000357721	Transcript	.	.	ENSG00000139160	28739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0.01)	.	MET20_HUMAN	METTL20	HGNC	F5H481_HUMAN	.	UPI000007435A	SNV	METTL20,missense_variant,p.Thr55Ser,ENST00000357721,;METTL20,missense_variant,p.Thr55Ser,ENST00000412352,;METTL20,missense_variant,p.Thr55Ser,ENST00000539633,;METTL20,missense_variant,p.Thr55Ser,ENST00000395763,;METTL20,missense_variant,p.Thr55Ser,ENST00000538391,;METTL20,missense_variant,p.Thr55Ser,ENST00000538463,;	378	98	115	SUCCESS
KRT5	3852	.	GRCh37	12	52911408	52911408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	38	0	ENST00000252242.4:c.1058G>T	p.Ser353Ile	p.S353I	ENST00000252242	NM_000424.3	353	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS8830.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGCTGCGG	NONE	.	.	hmmpanther:PTHR23239:SF159,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000252242	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000252242	Transcript	.	.	ENSG00000186081	6442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	K2C5_HUMAN	KRT5	HGNC	Q9UEK9_HUMAN,F8VV57_HUMAN,B4DL32_HUMAN	.	UPI000013CD4B	SNV	KRT5,missense_variant,p.Ser61Ile,ENST00000548409,;KRT5,missense_variant,p.Ser168Ile,ENST00000551188,;KRT5,missense_variant,p.Ser353Ile,ENST00000252242,;KRT5,downstream_gene_variant,,ENST00000551275,;KRT5,downstream_gene_variant,,ENST00000549420,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,non_coding_transcript_exon_variant,,ENST00000547890,;KRT5,non_coding_transcript_exon_variant,,ENST00000549511,;KRT5,non_coding_transcript_exon_variant,,ENST00000551013,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,upstream_gene_variant,,ENST00000552952,;	1449	38	51	SUCCESS
RPL41	6171	.	GRCh37	12	56510379	56510379	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	17	0	ENST00000501597.3:c.-78G>A		p.*26*	ENST00000501597	NM_021104.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44919.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGGCGCTC	NONE	.	.	.	.	.	ENSP00000449026	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000546591	Transcript	.	.	ENSG00000229117	10354	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL41_HUMAN	RPL41	HGNC	.	.	UPI0000000DDF	SNV	RPL41,5_prime_UTR_variant,,ENST00000546591,;RPL41,5_prime_UTR_variant,,ENST00000501597,;ZC3H10,upstream_gene_variant,,ENST00000257940,;ZC3H10,upstream_gene_variant,,ENST00000546903,;PA2G4,downstream_gene_variant,,ENST00000552766,;ZC3H10,upstream_gene_variant,,ENST00000551880,;PA2G4,downstream_gene_variant,,ENST00000303305,;ESYT1,upstream_gene_variant,,ENST00000551790,;ZC3H10,upstream_gene_variant,,ENST00000552345,;RP11-603J24.5,downstream_gene_variant,,ENST00000549438,;RP11-603J24.5,downstream_gene_variant,,ENST00000550947,;RP11-603J24.6,downstream_gene_variant,,ENST00000550840,;RP11-603J24.17,upstream_gene_variant,,ENST00000548595,;RPL41,upstream_gene_variant,,ENST00000546654,;ZC3H10,upstream_gene_variant,,ENST00000549973,;RPL41,upstream_gene_variant,,ENST00000552314,;RPL41,upstream_gene_variant,,ENST00000358888,;RPL41,upstream_gene_variant,,ENST00000546485,;	10	17	23	SUCCESS
CTDSP2	10106	.	GRCh37	12	58217408	58217408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	30	0	ENST00000398073.2:c.793C>A	p.Leu265Ile	p.L265I	ENST00000398073	NM_005730.3	265	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS41801.1	793	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGGCTGG	NONE	.	.	hmmpanther:PTHR12210:SF50,hmmpanther:PTHR12210,Gene3D:3.40.50.1000	.	.	ENSP00000381148	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000398073	Transcript	.	.	ENSG00000175215	17077	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.695)	.	deleterious(0.01)	.	CTDS2_HUMAN	CTDSP2	HGNC	F8W184_HUMAN	.	UPI00001FC667	SNV	CTDSP2,missense_variant,p.Leu113Ile,ENST00000547701,;CTDSP2,missense_variant,p.Leu265Ile,ENST00000398073,;CTDSP2,missense_variant,p.Leu92Ile,ENST00000548823,;CTDSP2,missense_variant,p.Leu119Ile,ENST00000549039,;AVIL,upstream_gene_variant,,ENST00000549994,;CTDSP2,downstream_gene_variant,,ENST00000550144,;MIR26A2,downstream_gene_variant,,ENST00000385054,;CTDSP2,non_coding_transcript_exon_variant,,ENST00000547169,;CTDSP2,downstream_gene_variant,,ENST00000551594,;CTDSP2,downstream_gene_variant,,ENST00000552294,;	1097	30	54	SUCCESS
TAPBPL	55080	.	GRCh37	12	6566826	6566838	+	frameshift_variant	Frame_Shift_Del	DEL	ACTATACAGGACG	ACTATACAGGACG	-	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	ACTATACAGGACG	ACTATACAGGACG	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	105	0	ENST00000266556.7:c.821_833del	p.Thr274ArgfsTer31	p.T274Rfs*31	ENST00000266556	NM_018009.4	274	ACTATACAGGACGag/ag	0	.	.	.	.	.	-	TIQDE/X	protein_coding	YES	CCDS8546.1	820-832	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCTCACTATACAGGACGAGGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23411:SF3,hmmpanther:PTHR23411,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000266556	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000266556	Transcript	.	.	ENSG00000139192	30683	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPSNR_HUMAN	TAPBPL	HGNC	.	.	UPI000013D6F6	deletion	TAPBPL,splice_acceptor_variant,,ENST00000544021,;TAPBPL,frameshift_variant,p.Thr274ArgfsTer31,ENST00000266556,;VAMP1,downstream_gene_variant,,ENST00000361716,;VAMP1,downstream_gene_variant,,ENST00000400911,;TAPBPL,splice_acceptor_variant,,ENST00000545700,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,upstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000544826,;TAPBPL,upstream_gene_variant,,ENST00000544289,;VAMP1,downstream_gene_variant,,ENST00000544432,;	985-997	105	107	SUCCESS
COPS7A	50813	.	GRCh37	12	6837158	6837158	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	42	0	ENST00000229251.3:c.229G>T	p.Asp77Tyr	p.D77Y	ENST00000229251	NM_016319.2	77	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8558.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTGACTAC	NONE	.	.	hmmpanther:PTHR15350:SF7,hmmpanther:PTHR15350,Pfam_domain:PF01399	.	.	ENSP00000438115	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000543155	Transcript	.	.	ENSG00000111652	16758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CSN7A_HUMAN	COPS7A	HGNC	F5H7C6_HUMAN,F5H4U8_HUMAN,F5GYF7_HUMAN	.	UPI0000035DA4	SNV	COPS7A,missense_variant,p.Asp77Tyr,ENST00000538410,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000534877,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000543155,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000229251,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000539735,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000534947,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000544725,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000538753,;COPS7A,missense_variant,p.Asp77Tyr,ENST00000541866,;RP4-761J14.9,downstream_gene_variant,,ENST00000602759,;COPS7A,intron_variant,,ENST00000542150,;COPS7A,3_prime_UTR_variant,,ENST00000546229,;COPS7A,3_prime_UTR_variant,,ENST00000537022,;COPS7A,intron_variant,,ENST00000543939,;COPS7A,intron_variant,,ENST00000540408,;COPS7A,intron_variant,,ENST00000543170,;COPS7A,intron_variant,,ENST00000543537,;COPS7A,intron_variant,,ENST00000536872,;COPS7A,intron_variant,,ENST00000538375,;COPS7A,intron_variant,,ENST00000455113,;COPS7A,downstream_gene_variant,,ENST00000544316,;COPS7A,upstream_gene_variant,,ENST00000542630,;	711	42	55	SUCCESS
RASSF9	9182	.	GRCh37	12	86230106	86230106	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	19	0	ENST00000361228.3:c.-127G>T		p.*43*	ENST00000361228	NM_005447.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44950.1	.	MUTECT|MUSE	.	CCTGGCTTTCA	NONE	.	.	.	.	.	ENSP00000354884	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000361228	Transcript	.	.	ENSG00000198774	15739	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASF9_HUMAN	RASSF9	HGNC	.	.	UPI000003E7E4	SNV	RASSF9,5_prime_UTR_variant,,ENST00000361228,;	243	19	10	SUCCESS
KERA	11081	.	GRCh37	12	91450006	91450006	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1256136822	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	53	0	ENST00000266719.3:c.53T>C	p.Val18Ala	p.V18A	ENST00000266719	NM_007035.3	18	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS9037.1	53	MUTECT|MUSE	.	ACCACACAGTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24371:SF60,hmmpanther:PTHR24371	.	.	ENSP00000266719	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000266719	Transcript	.	.	ENSG00000139330	6309	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.32)	.	KERA_HUMAN	KERA	HGNC	.	.	UPI000000161F	SNV	KERA,missense_variant,p.Val18Ala,ENST00000266719,;	301	53	76	SUCCESS
MICU2	221154	.	GRCh37	13	22069447	22069447	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	84	0	ENST00000382374.4:c.1053G>A	p.Lys351=	p.K351=	ENST00000382374	NM_152726.2	351	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS9297.1	1053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCTTAAA	NONE	.	.	hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF3,Gene3D:1.10.238.10,Pfam_domain:PF13833,Superfamily_domains:SSF47473	.	.	ENSP00000371811	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000382374	Transcript	.	.	ENSG00000165487	31830	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MICU2_HUMAN	MICU2	HGNC	.	.	UPI0000035DB8	SNV	MICU2,synonymous_variant,p.%3D,ENST00000382374,;MICU2,non_coding_transcript_exon_variant,,ENST00000460488,;MICU2,non_coding_transcript_exon_variant,,ENST00000478700,;MICU2,non_coding_transcript_exon_variant,,ENST00000479790,;	1119	84	83	SUCCESS
ATP8A2	51761	.	GRCh37	13	26594099	26594100	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	59	0	ENST00000381655.2:c.3548dup	p.Lys1184GlufsTer12	p.K1184Efs*12	ENST00000381655	NM_016529.4	1181	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS41873.1	3543-3544	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCACCAAAAA	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092	.	.	ENSP00000371070	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	insertion	ATP8A2,frameshift_variant,p.Lys1119GlufsTer12,ENST00000255283,;ATP8A2,frameshift_variant,p.Lys1184GlufsTer12,ENST00000381655,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	3685-3686	59	74	SUCCESS
CDX2	1045	.	GRCh37	13	28543173	28543173	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	16	0	ENST00000381020.7:c.-30G>T		p.*10*	ENST00000381020	NM_001265.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9328.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCATGCT	NONE	.	.	.	.	.	ENSP00000370408	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381020	Transcript	.	.	ENSG00000165556	1806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDX2_HUMAN	CDX2	HGNC	.	.	UPI000013E4C8	SNV	CDX2,5_prime_UTR_variant,,ENST00000381020,;CDX2,upstream_gene_variant,,ENST00000548877,;	2104	16	16	SUCCESS
UBL3	5412	.	GRCh37	13	30341820	30341820	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs986288745	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	77	0	ENST00000380680.4:c.236C>T	p.Pro79Leu	p.P79L	ENST00000380680	NM_007106.3	79	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9334.1	236	MUTECT|MUSE	.	CAAAAGGAAGT	NONE	.	.	Superfamily_domains:SSF54236,PIRSF_domain:PIRSF032572,Pfam_domain:PF13881,Gene3D:3.10.20.90,hmmpanther:PTHR13169,hmmpanther:PTHR13169:SF2,PROSITE_profiles:PS50053	.	.	ENSP00000370055	.	4/5	.	.	.	.	.	.	.	.	COSM1629047	4/5	PASS	ENST00000380680	Transcript	.	.	ENSG00000122042	12504	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.927)	.	tolerated(0.13)	1	UBL3_HUMAN	UBL3	HGNC	.	.	UPI0000074018	SNV	UBL3,missense_variant,p.Pro79Leu,ENST00000380680,;	1382	77	64	SUCCESS
CCNA1	8900	.	GRCh37	13	37007255	37007255	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761793251	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	30	71	0	ENST00000255465.4:c.194C>G	p.Ala65Gly	p.A65G	ENST00000255465		65	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS9357.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGCTTGTC	NONE	.	.	PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177:SF68,hmmpanther:PTHR10177	.	.	ENSP00000255465	.	2/9	.	.	.	.	.	.	.	.	rs761793251	2/9	PASS	ENST00000255465	Transcript	.	.	ENSG00000133101	1577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.16)	.	CCNA1_HUMAN	CCNA1	HGNC	Q9UNG8_HUMAN,F6KX25_HUMAN	.	UPI000012759F	SNV	CCNA1,missense_variant,p.Ala64Gly,ENST00000418263,;CCNA1,missense_variant,p.Ala65Gly,ENST00000255465,;CCNA1,missense_variant,p.Ala21Gly,ENST00000449823,;CCNA1,missense_variant,p.Ala21Gly,ENST00000440264,;CCNA1,non_coding_transcript_exon_variant,,ENST00000463403,;	458	71	41	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679379	37679379	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768049929	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	41	73	0	ENST00000379800.3:c.15C>A	p.Ser5Arg	p.S5R	ENST00000379800	NM_145203.5	5	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS9363.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGCTGTT	NONE	.	.	hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	rs768049929,COSM398001,COSM280181	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.37)	.	tolerated_low_confidence(0.11)	0,1,1	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,missense_variant,p.Ser5Arg,ENST00000379800,;	425	73	61	SUCCESS
EDNRB	1910	.	GRCh37	13	78475302	78475302	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	50	0	ENST00000334286.5:c.842A>G	p.Tyr281Cys	p.Y281C	ENST00000334286	NM_001122659.2	281	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS55902.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATAGAAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00366	.	.	ENSP00000366416	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,missense_variant,p.Tyr281Cys,ENST00000446573,;EDNRB,missense_variant,p.Tyr371Cys,ENST00000377211,;EDNRB,missense_variant,p.Tyr281Cys,ENST00000334286,;	1265	50	90	SUCCESS
MYH7	4625	.	GRCh37	14	23895186	23895186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	61	0	ENST00000355349.3:c.2149G>T	p.Asp717Tyr	p.D717Y	ENST00000355349	NM_000257.2	717	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS9601.1	2149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCCCCGT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	19/40	.	.	.	.	.	.	.	.	.	19/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Asp717Tyr,ENST00000355349,;	2312	61	86	SUCCESS
FOXG1	2290	.	GRCh37	14	29236691	29236691	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs727503933	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	4	132	0	ENST00000313071.4:c.206C>A	p.Pro69Gln	p.P69Q	ENST00000313071	NM_005249.4	69	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS9636.1	206	MUTECT|MUSE	uncertain_significance	GCCGCCGCAGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Superfamily_domains:SSF81995	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	rs727503933	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Pro69Gln,ENST00000313071,;FOXG1,missense_variant,p.Pro69Gln,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	575	132	108	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68256275	68256275	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	33	48	0	ENST00000347230.4:c.2796G>A	p.Leu932=	p.L932=	ENST00000347230	NM_015346.3	932	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9788.1	2796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGCAGCTT	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115	.	.	ENSP00000251119	.	16/42	.	.	.	.	.	.	.	.	.	16/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,synonymous_variant,p.%3D,ENST00000555452,;ZFYVE26,synonymous_variant,p.%3D,ENST00000347230,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	2935	48	44	SUCCESS
ZFP36L1	677	.	GRCh37	14	69256756	69256756	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	22	56	0	ENST00000336440.3:c.511C>T	p.Pro171Ser	p.P171S	ENST00000336440		171	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9791.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGCCCGT	NONE	.	.	Superfamily_domains:SSF90229,SMART_domains:SM00356,Pfam_domain:PF00642,Gene3D:1m9oA00,hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF53,PROSITE_profiles:PS50103	.	.	ENSP00000388402	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,missense_variant,p.Pro149Ser,ENST00000557022,;ZFP36L1,missense_variant,p.Pro171Ser,ENST00000336440,;ZFP36L1,missense_variant,p.Pro171Ser,ENST00000439696,;ZFP36L1,missense_variant,p.Pro177Ser,ENST00000557086,;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,;ZFP36L1,downstream_gene_variant,,ENST00000408913,;ZFP36L1,downstream_gene_variant,,ENST00000553375,;	813	56	32	SUCCESS
FURIN	5045	.	GRCh37	15	91424928	91424928	+	synonymous_variant	Silent	SNP	C	C	T	rs762528103	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	56	101	0	ENST00000268171.3:c.2205C>T	p.Val735=	p.V735=	ENST00000268171	NM_002569.2	735	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10364.1	2205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCCTGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000268171	.	16/16	.	.	.	.	.	.	.	.	rs762528103	16/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,synonymous_variant,p.%3D,ENST00000268171,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000559355,;FES,upstream_gene_variant,,ENST00000450438,;FES,upstream_gene_variant,,ENST00000394300,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000328850,;FES,upstream_gene_variant,,ENST00000444422,;FURIN,downstream_gene_variant,,ENST00000560018,;FURIN,downstream_gene_variant,,ENST00000558794,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	2484	101	130	SUCCESS
TSC2	7249	.	GRCh37	16	2112588	2112588	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs45491095	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	43	62	1	ENST00000219476.3:c.1348G>T	p.Glu450Ter	p.E450*	ENST00000219476	NM_000548.3	450	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10458.1	1348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	TGATGGAGAGA	NONE	byCluster	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Gene3D:1.25.10.10,Pfam_domain:PF11864,Superfamily_domains:SSF48371	.	.	ENSP00000219476	.	13/42	.	.	.	.	.	.	.	.	CM981944,rs45491095	13/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	9829910,10533067	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Glu413Ter,ENST00000439673,;TSC2,stop_gained,p.Glu450Ter,ENST00000219476,;TSC2,stop_gained,p.Glu450Ter,ENST00000353929,;TSC2,stop_gained,p.Glu450Ter,ENST00000350773,;TSC2,stop_gained,p.Glu461Ter,ENST00000568454,;TSC2,stop_gained,p.Glu168Ter,ENST00000467949,;TSC2,stop_gained,p.Glu401Ter,ENST00000382538,;TSC2,stop_gained,p.Glu450Ter,ENST00000401874,;TSC2,upstream_gene_variant,,ENST00000562474,;TSC2,stop_gained,p.Glu24Ter,ENST00000568566,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000463601,;TSC2,upstream_gene_variant,,ENST00000488675,;TSC2,upstream_gene_variant,,ENST00000568238,;TSC2,upstream_gene_variant,,ENST00000490108,;	1978	63	58	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29889696	29889696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	43	34	0	ENST00000308713.5:c.1624G>T	p.Asp542Tyr	p.D542Y	ENST00000308713	NM_001114099.2	542	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10659.1	1624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCGGGAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000312550	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Asp147Tyr,ENST00000563118,;SEZ6L2,missense_variant,p.Asp542Tyr,ENST00000308713,;SEZ6L2,missense_variant,p.Asp472Tyr,ENST00000350527,;SEZ6L2,missense_variant,p.Asp428Tyr,ENST00000346932,;SEZ6L2,missense_variant,p.Asp498Tyr,ENST00000537485,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;	2152	34	52	SUCCESS
SRCAP	10847	.	GRCh37	16	30735749	30735749	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	55	91	0	ENST00000262518.4:c.5004T>C	p.Val1668=	p.V1668=	ENST00000262518	NM_006662.2	1668	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS10689.2	5004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTTCCGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	.	ENSP00000262518	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,synonymous_variant,p.%3D,ENST00000262518,;SRCAP,synonymous_variant,p.%3D,ENST00000344771,;SRCAP,synonymous_variant,p.%3D,ENST00000395059,;SRCAP,synonymous_variant,p.%3D,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	5389	91	70	SUCCESS
SETD1A	9739	.	GRCh37	16	30990708	30990708	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774166831	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	83	97	0	ENST00000262519.8:c.3601C>T	p.Arg1201Trp	p.R1201W	ENST00000262519	NM_014712.1	1201	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32435.1	3601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR22884:SF295,hmmpanther:PTHR22884	.	.	ENSP00000262519	.	14/19	.	.	.	.	.	.	.	.	rs774166831	14/19	PASS	ENST00000262519	Transcript	.	.	ENSG00000099381	29010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SET1A_HUMAN	SETD1A	HGNC	C9J2Z9_HUMAN	.	UPI00001C1FA9	SNV	SETD1A,missense_variant,p.Arg1201Trp,ENST00000262519,;	4287	97	109	SUCCESS
PHKB	5257	.	GRCh37	16	47497889	47497889	+	intron_variant	Intron	SNP	G	G	A	rs746670187	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	69	0	ENST00000323584.5:c.76+2552G>A		p.*26*	ENST00000323584	NM_000293.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10729.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCTTTC	NONE	.	.	.	.	.	ENSP00000313504	.	.	.	.	.	.	.	.	.	.	rs746670187,COSM970839	.	PASS	ENST00000323584	Transcript	.	.	ENSG00000102893	8927	.	.	MODIFIER	1/30	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Ala14Thr,ENST00000566044,;PHKB,missense_variant,p.Ala14Thr,ENST00000563376,;PHKB,missense_variant,p.Ala14Thr,ENST00000564873,;PHKB,missense_variant,p.Ala14Thr,ENST00000455779,;PHKB,missense_variant,p.Ala14Thr,ENST00000566037,;ITFG1,5_prime_UTR_variant,,ENST00000563730,;PHKB,intron_variant,,ENST00000299167,;PHKB,intron_variant,,ENST00000323584,;PHKB,downstream_gene_variant,,ENST00000567200,;ITFG1,upstream_gene_variant,,ENST00000565940,;ITFG1,upstream_gene_variant,,ENST00000320640,;ITFG1,upstream_gene_variant,,ENST00000544001,;PHKB,intron_variant,,ENST00000567402,;ITFG1,upstream_gene_variant,,ENST00000563350,;PHKB,downstream_gene_variant,,ENST00000566721,;PHKB,intron_variant,,ENST00000565424,;	.	69	70	SUCCESS
USP10	9100	.	GRCh37	16	84779047	84779047	+	synonymous_variant	Silent	SNP	A	A	G	rs771784330	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	42	93	0	ENST00000219473.7:c.960A>G	p.Ala320=	p.A320=	ENST00000219473	NM_005153.2	320	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS45537.1	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCATCACC	NONE	byFrequency	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF69	.	.	ENSP00000219473	.	4/14	.	.	.	.	.	.	.	.	rs771784330	4/14	PASS	ENST00000219473	Transcript	.	.	ENSG00000103194	12608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP10_HUMAN	USP10	HGNC	Q6P2I0_HUMAN	.	UPI00001379EB	SNV	USP10,synonymous_variant,p.%3D,ENST00000570191,;USP10,synonymous_variant,p.%3D,ENST00000219473,;USP10,intron_variant,,ENST00000570053,;USP10,intron_variant,,ENST00000569038,;USP10,intron_variant,,ENST00000563892,;USP10,downstream_gene_variant,,ENST00000562283,;USP10,downstream_gene_variant,,ENST00000562743,;USP10,3_prime_UTR_variant,,ENST00000540269,;USP10,intron_variant,,ENST00000563048,;USP10,downstream_gene_variant,,ENST00000563386,;USP10,downstream_gene_variant,,ENST00000566512,;USP10,downstream_gene_variant,,ENST00000563023,;	1073	93	58	SUCCESS
DNAH9	1770	.	GRCh37	17	11593003	11593003	+	synonymous_variant	Silent	SNP	C	C	T	rs778954683	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	53	87	0	ENST00000262442.4:c.3864C>T	p.Asp1288=	p.D1288=	ENST00000262442	NM_001372.3	1288	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS11160.1	3864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACTATAA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676	.	.	ENSP00000262442	.	20/69	.	.	.	.	.	.	.	.	rs778954683	20/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;	3932	87	62	SUCCESS
GRN	2896	.	GRCh37	17	42427830	42427830	+	synonymous_variant	Silent	SNP	G	G	A	rs373703310	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	48	0	ENST00000053867.3:c.483G>A	p.Arg161=	p.R161=	ENST00000053867	NM_002087.2	161	agG/agA	0	A:0	.	.	.	.	A	R	protein_coding	YES	CCDS11483.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGGTGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12274,PROSITE_patterns:PS00799,Pfam_domain:PF00396,SMART_domains:SM00277	.	A:0.0001	ENSP00000053867	.	6/13	.	.	.	.	.	.	.	.	rs373703310	6/13	PASS	ENST00000053867	Transcript	.	.	ENSG00000030582	4601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRN_HUMAN	GRN	HGNC	K7EQK6_HUMAN,K7EQA7_HUMAN,K7ENN1_HUMAN,K7ENI2_HUMAN,K7EM89_HUMAN,K7ELY1_HUMAN,K7EK92_HUMAN,K7EJY4_HUMAN	.	UPI00000015E0	SNV	GRN,synonymous_variant,p.%3D,ENST00000588143,;GRN,synonymous_variant,p.%3D,ENST00000587387,;GRN,synonymous_variant,p.%3D,ENST00000588237,;GRN,synonymous_variant,p.%3D,ENST00000053867,;GRN,intron_variant,,ENST00000589265,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000593167,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,upstream_gene_variant,,ENST00000586242,;FAM171A2,downstream_gene_variant,,ENST00000293443,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000585512,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,upstream_gene_variant,,ENST00000586443,;GRN,upstream_gene_variant,,ENST00000589923,;GRN,missense_variant,p.Gly155Ser,ENST00000586782,;GRN,non_coding_transcript_exon_variant,,ENST00000590984,;GRN,downstream_gene_variant,,ENST00000588170,;GRN,upstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000587958,;GRN,downstream_gene_variant,,ENST00000592323,;	545	48	50	SUCCESS
SPPL2C	162540	.	GRCh37	17	43922595	43922595	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	56	0	ENST00000329196.5:c.323G>A	p.Trp108Ter	p.W108*	ENST00000329196	NM_175882.2	108	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS32673.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGGCTGG	BUFFER|p.T105T|c.315G>A|3	.	.	hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF38,Pfam_domain:PF02225,Gene3D:3.50.30.30	.	.	ENSP00000332488	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329196	Transcript	.	.	ENSG00000185294	28902	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPP2C_HUMAN	SPPL2C	HGNC	.	.	UPI0000EE80B4	SNV	SPPL2C,stop_gained,p.Trp108Ter,ENST00000329196,;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;	340	56	72	SUCCESS
TP53	7157	.	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057520007	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	66	128	0	ENST00000269305.4:c.614A>G	p.Tyr205Cys	p.Y205C	ENST00000269305	NM_001126112.2	205	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11118.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATACTCC	SITE|p.Y73C|c.218A>G|19,SITE|p.Y112C|c.335A>G|18,SITE|p.Y205C|c.614A>G|17,SITE|p.Y205C|c.614A>G|5,SITE|p.Y205C|c.614A>G|72,SITE|p.Y205C|c.614A>G|18,SITE|p.Y205C|c.614A>G|8,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y112S|c.335A>C|3,CODON|p.Y205S|c.614A>C|3,CODON|p.Y205F|c.614A>T|7,CODON|p.Y205S|c.614A>C|14,CODON|p.Y205S|c.614A>C|3,CODON|p.Y73S|c.218A>C|3,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y112fs*4|c.334_335insC|4,CODON|p.Y73fs*4|c.217_218insC|4,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y205fs*4|c.613_614insC|4,BUFFER|p.R209fs*6|c.625_626delAG|23,BUFFER|p.R209*|c.625A>T|4,BUFFER|p.R116*|c.346A>T|4,BUFFER|p.R209*|c.625A>T|4,BUFFER|p.R209*|c.625A>T|14,BUFFER|p.R77*|c.229A>T|4,BUFFER|p.D208E|c.624C>G|3,BUFFER|p.D208V|c.623A>T|14,BUFFER|p.D208G|c.623A>G|5,BUFFER|p.D207G|c.620A>G|4,BUFFER|p.L206fs*41|c.617delT|4,BUFFER|p.L206*|c.617T>A|9,BUFFER|p.Y205N|c.613T>A|5,BUFFER|p.Y205N|c.613T>A|3,BUFFER|p.Y112N|c.334T>A|3,BUFFER|p.Y205H|c.613T>C|6,BUFFER|p.Y205D|c.613T>G|14,BUFFER|p.Y73N|c.217T>A|3,BUFFER|p.E204fs*43|c.610delG|3,BUFFER|p.E204*|c.610G>T|3,BUFFER|p.E72*|c.214G>T|10,BUFFER|p.E204*|c.610G>T|32,BUFFER|p.E111*|c.331G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|4,BUFFER|p.V203V|c.609G>T|3,BUFFER|p.V203E|c.608T>A|6,BUFFER|p.V203L|c.607G>T|4,BUFFER|p.R202L|c.605G>T|3,BUFFER|p.R202H|c.605G>A|4,BUFFER|p.R202C|c.604C>T|4,BUFFER|p.R202S|c.604C>A|6,BUFFER|p.L201F|c.603G>T|3,BUFFER|p.L201F|c.603G>C|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12683A>T,TP53_g.12683A>C,TP53_g.12683A>G,COSM43947,COSM44169,COSM11351,COSM99633,COSM215720,COSM99630,COSM215719,COSM99631,COSM215721,COSM3378351,COSM3421935,COSM3421934,COSM1649393,COSM99632,COSM215722	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.99)	.	deleterious(0)	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr205Cys,ENST00000413465,;TP53,missense_variant,p.Tyr205Cys,ENST00000420246,;TP53,missense_variant,p.Tyr205Cys,ENST00000269305,;TP53,missense_variant,p.Tyr73Cys,ENST00000509690,;TP53,missense_variant,p.Tyr205Cys,ENST00000359597,;TP53,missense_variant,p.Tyr112Cys,ENST00000514944,;TP53,missense_variant,p.Tyr205Cys,ENST00000445888,;TP53,missense_variant,p.Tyr205Cys,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	804	128	95	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14748314	14748314	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	21	0	ENST00000358984.4:c.-105G>T		p.*35*	ENST00000358984	NM_001145029.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54182.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGGGGGC	NONE	.	.	.	.	.	ENSP00000351875	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,5_prime_UTR_variant,,ENST00000358984,;ANKRD30B,upstream_gene_variant,,ENST00000447268,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,upstream_gene_variant,,ENST00000580206,;	76	21	23	SUCCESS
SMCHD1	23347	.	GRCh37	18	2763754	2763754	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	54	122	0	ENST00000320876.6:c.4686A>G	p.Glu1562=	p.E1562=	ENST00000320876	NM_015295.2	1562	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS45822.1	4686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAATTCCC	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	37/48	.	.	.	.	.	.	.	.	.	37/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,synonymous_variant,p.%3D,ENST00000320876,;SMCHD1,synonymous_variant,p.%3D,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,synonymous_variant,p.%3D,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000583344,;	5024	122	139	SUCCESS
TCEB3B	0	.	GRCh37	18	44560876	44560876	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs765195317	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	53	0	ENST00000332567.4:c.760T>C	p.Cys254Arg	p.C254R	ENST00000332567	NM_016427.2	254	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS11932.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCATGATT	NONE	.	.	hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141	.	.	ENSP00000331302	.	1/1	.	.	.	.	.	.	.	.	rs765195317	1/1	PASS	ENST00000332567	Transcript	.	.	ENSG00000206181	30771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.17)	.	ELOA2_HUMAN	TCEB3B	HGNC	.	.	UPI0000140A82	SNV	TCEB3B,missense_variant,p.Cys254Arg,ENST00000332567,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,;	1113	53	64	SUCCESS
SIN3B	23309	.	GRCh37	19	16988394	16988394	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	39	0	ENST00000379803.1:c.2994G>C	p.Glu998Asp	p.E998D	ENST00000379803	NM_015260.2	998	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS32946.1	2994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGAGGGCGC	NONE	.	.	hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1	.	.	ENSP00000369131	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.78)	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	SNV	SIN3B,missense_variant,p.Glu556Asp,ENST00000595541,;SIN3B,missense_variant,p.Glu966Asp,ENST00000248054,;SIN3B,missense_variant,p.Glu998Asp,ENST00000379803,;SIN3B,non_coding_transcript_exon_variant,,ENST00000594235,;SIN3B,downstream_gene_variant,,ENST00000595900,;SIN3B,non_coding_transcript_exon_variant,,ENST00000601141,;SIN3B,non_coding_transcript_exon_variant,,ENST00000595049,;	3008	39	45	SUCCESS
ANKLE1	126549	.	GRCh37	19	17396553	17396553	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1383812974	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	65	0	ENST00000394458.3:c.1600G>T	p.Val534Leu	p.V534L	ENST00000394458	NM_001278444.1	534	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	.	1600	RADIA|MUTECT|MUSE	.	GTGTTGTGTCC	NONE	.	.	PROSITE_profiles:PS50164,hmmpanther:PTHR13428:SF5,hmmpanther:PTHR13428	.	.	ENSP00000377971	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000394458	Transcript	.	.	ENSG00000160117	26812	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.081)	.	deleterious(0.04)	.	ANKL1_HUMAN	ANKLE1	HGNC	.	.	UPI000165D67E	SNV	ANKLE1,missense_variant,p.Val497Leu,ENST00000594072,;ANKLE1,missense_variant,p.Val530Leu,ENST00000404085,;ANKLE1,missense_variant,p.Val534Leu,ENST00000394458,;ANKLE1,3_prime_UTR_variant,,ENST00000433424,;ANKLE1,intron_variant,,ENST00000598347,;USHBP1,upstream_gene_variant,,ENST00000598309,;ANKLE1,3_prime_UTR_variant,,ENST00000404261,;ANKLE1,non_coding_transcript_exon_variant,,ENST00000596626,;BABAM1,downstream_gene_variant,,ENST00000594247,;ANKLE1,downstream_gene_variant,,ENST00000596099,;ANKLE1,downstream_gene_variant,,ENST00000596834,;ANKLE1,downstream_gene_variant,,ENST00000601401,;CTD-2278I10.6,downstream_gene_variant,,ENST00000596542,;	1876	65	75	SUCCESS
ZNF492	57615	.	GRCh37	19	22846902	22846902	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	127	227	1	ENST00000456783.2:c.431A>G	p.Lys144Arg	p.K144R	ENST00000456783	NM_020855.2	144	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46032.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTAAAGAAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000413660	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.06)	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,missense_variant,p.Lys144Arg,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	675	228	318	SUCCESS
FXYD1	5348	.	GRCh37	19	35632088	35632088	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	26	0	ENST00000351325.4:c.147C>T	p.Ile49=	p.I49=	ENST00000351325	NM_021902.3	49	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12445.1	147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF13,Pfam_domain:PF02038,Gene3D:1.20.5.780	.	.	ENSP00000467727	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000588081	Transcript	.	.	ENSG00000266964	4025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLM_HUMAN	FXYD1	HGNC	.	.	UPI0000032CBA	SNV	FXYD1,synonymous_variant,p.%3D,ENST00000589209,;FXYD1,synonymous_variant,p.%3D,ENST00000588715,;FXYD1,synonymous_variant,p.%3D,ENST00000588607,;FXYD1,synonymous_variant,p.%3D,ENST00000351325,;FXYD1,synonymous_variant,p.%3D,ENST00000455515,;FXYD1,synonymous_variant,p.%3D,ENST00000589121,;FXYD1,synonymous_variant,p.%3D,ENST00000588081,;FXYD7,upstream_gene_variant,,ENST00000270310,;FXYD7,upstream_gene_variant,,ENST00000586063,;FXYD7,upstream_gene_variant,,ENST00000588265,;CTD-2527I21.4,non_coding_transcript_exon_variant,,ENST00000592174,;CTD-2527I21.4,non_coding_transcript_exon_variant,,ENST00000586871,;LGI4,intron_variant,,ENST00000493050,;FXYD1,non_coding_transcript_exon_variant,,ENST00000590462,;FXYD1,non_coding_transcript_exon_variant,,ENST00000592818,;FXYD1,non_coding_transcript_exon_variant,,ENST00000587056,;FXYD7,upstream_gene_variant,,ENST00000439441,;AC020907.2,upstream_gene_variant,,ENST00000366225,;	205	26	32	SUCCESS
LRFN1	57622	.	GRCh37	19	39798880	39798880	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	89	0	ENST00000248668.4:c.1709T>A	p.Val570Asp	p.V570D	ENST00000248668	NM_020862.1	570	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS46071.1	1709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGACGCGG	NONE	.	.	hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373	.	.	ENSP00000248668	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000248668	Transcript	.	.	ENSG00000128011	29290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.34)	.	LRFN1_HUMAN	LRFN1	HGNC	.	.	UPI00001A5C55	SNV	LRFN1,missense_variant,p.Val570Asp,ENST00000248668,;	1709	89	114	SUCCESS
SPTBN4	57731	.	GRCh37	19	41026029	41026029	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	32	0	ENST00000352632.3:c.3625C>T	p.Arg1209Cys	p.R1209C	ENST00000352632		1209	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS12559.1	3625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACGCCAG	NONE	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150	.	.	ENSP00000263373	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	deleterious(0.04)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Arg1209Cys,ENST00000338932,;SPTBN4,missense_variant,p.Arg1209Cys,ENST00000352632,;SPTBN4,missense_variant,p.Arg1209Cys,ENST00000598249,;SPTBN4,missense_variant,p.Arg1209Cys,ENST00000595535,;SPTBN4,missense_variant,p.Arg1209Cys,ENST00000344104,;SPTBN4,upstream_gene_variant,,ENST00000392025,;SPTBN4,missense_variant,p.Arg601Cys,ENST00000597389,;	3711	32	36	SUCCESS
CEACAM3	1084	.	GRCh37	19	42314898	42314898	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	78	0	ENST00000357396.3:c.656C>G	p.Pro219Arg	p.P219R	ENST00000357396	NM_001815.3	219	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS12586.2	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCCCTAC	NONE	.	.	.	.	.	ENSP00000349971	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0)	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,missense_variant,p.Pro219Arg,ENST00000357396,;CEACAM3,synonymous_variant,p.%3D,ENST00000344550,;CEACAM3,synonymous_variant,p.%3D,ENST00000221999,;CEACAM3,downstream_gene_variant,,ENST00000599662,;CEACAM3,downstream_gene_variant,,ENST00000595255,;CEACAM3,3_prime_UTR_variant,,ENST00000415495,;	897	78	90	SUCCESS
SULT2A1	6822	.	GRCh37	19	48389503	48389503	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	55	88	0	ENST00000222002.3:c.12T>C	p.Asp4=	p.D4=	ENST00000222002	NM_003167.3	4	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS12707.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAATCGTC	NONE	.	.	hmmpanther:PTHR11783:SF8,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000222002	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000222002	Transcript	.	.	ENSG00000105398	11458	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST2A1_HUMAN	SULT2A1	HGNC	A8K015_HUMAN	.	UPI000013C7E8	SNV	SULT2A1,synonymous_variant,p.%3D,ENST00000222002,;	152	88	110	SUCCESS
NOSIP	51070	.	GRCh37	19	50063276	50063291	+	frameshift_variant	Frame_Shift_Del	DEL	GGGTCCCATAGCCCGA	GGGTCCCATAGCCCGA	-	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	GGGTCCCATAGCCCGA	GGGTCCCATAGCCCGA	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	93	0	ENST00000596358.1:c.76_91del	p.Ser26ArgfsTer5	p.S26Rfs*5	ENST00000596358	NM_001270960.1	26	TCGGGCTATGGGACCCag/ag	0	.	.	.	.	.	-	SGYGTQ/X	protein_coding	YES	CCDS12772.1	76-91	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTCTGGGTCCCATAGCCCGAGGCCG	NONE	.	.	hmmpanther:PTHR13063:SF10,hmmpanther:PTHR13063,PIRSF_domain:PIRSF023577,Superfamily_domains:SSF57850	.	.	ENSP00000375726	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000391853	Transcript	.	.	ENSG00000142546	17946	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOSIP_HUMAN	NOSIP	HGNC	M0R3B2_HUMAN,M0QX85_HUMAN	.	UPI000006F7E8	deletion	NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000391853,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000596358,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000598296,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000599537,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000339093,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000598544,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000594932,;NOSIP,frameshift_variant,p.Ser6ArgfsTer5,ENST00000601015,;NOSIP,frameshift_variant,p.Ser26ArgfsTer5,ENST00000600019,;NOSIP,non_coding_transcript_exon_variant,,ENST00000599425,;NOSIP,non_coding_transcript_exon_variant,,ENST00000598839,;NOSIP,non_coding_transcript_exon_variant,,ENST00000601107,;NOSIP,non_coding_transcript_exon_variant,,ENST00000601340,;NOSIP,non_coding_transcript_exon_variant,,ENST00000593345,;NOSIP,non_coding_transcript_exon_variant,,ENST00000598550,;NOSIP,non_coding_transcript_exon_variant,,ENST00000598820,;NOSIP,upstream_gene_variant,,ENST00000596477,;	228-243	93	101	SUCCESS
MYH14	79784	.	GRCh37	19	50760598	50760598	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	53	0	ENST00000376970.2:c.2063A>T	p.Asp688Val	p.D688V	ENST00000376970	NM_024729.3	688	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS54295.1	2087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGACGGCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF00063,SMART_domains:SM00242	.	.	ENSP00000470298	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.444)	.	deleterious(0.01)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Asp696Val,ENST00000440075,;MYH14,missense_variant,p.Asp696Val,ENST00000601313,;MYH14,missense_variant,p.Asp688Val,ENST00000376970,;MYH14,missense_variant,p.Asp655Val,ENST00000596571,;MYH14,missense_variant,p.Asp663Val,ENST00000425460,;MYH14,missense_variant,p.Asp663Val,ENST00000599920,;MYH14,missense_variant,p.Asp663Val,ENST00000598205,;MYH14,missense_variant,p.Asp696Val,ENST00000262269,;	2117	54	55	SUCCESS
NLRP7	199713	.	GRCh37	19	55451284	55451284	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	63	0	ENST00000340844.2:c.903G>T	p.Thr301=	p.T301=	ENST00000340844	NM_206828.3	301	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46183.1	903	MUTECT|MUSE	.	GGCCGCGTGGT	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000467123	.	6/13	.	.	.	.	.	.	.	.	COSM1396435,COSM1396434	6/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,synonymous_variant,p.%3D,ENST00000590030,;NLRP7,synonymous_variant,p.%3D,ENST00000446217,;NLRP7,synonymous_variant,p.%3D,ENST00000588756,;NLRP7,synonymous_variant,p.%3D,ENST00000448121,;NLRP7,synonymous_variant,p.%3D,ENST00000328092,;NLRP7,synonymous_variant,p.%3D,ENST00000592784,;NLRP7,synonymous_variant,p.%3D,ENST00000340844,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,synonymous_variant,p.%3D,ENST00000586379,;	1390	63	82	SUCCESS
ZNF551	90233	.	GRCh37	19	58199257	58199257	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	76	0	ENST00000282296.5:c.1614A>G	p.Lys538=	p.K538=	ENST00000282296		538	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS12959.2	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAATCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF212,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282296	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282296	Transcript	.	.	ENSG00000204519	25108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN551_HUMAN	ZNF551	HGNC	M0R2M4_HUMAN	.	UPI000059D7C6	SNV	ZNF551,synonymous_variant,p.%3D,ENST00000282296,;ZNF551,synonymous_variant,p.%3D,ENST00000601064,;ZNF551,synonymous_variant,p.%3D,ENST00000356715,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC004017.1,downstream_gene_variant,,ENST00000597520,;AC003006.7,intron_variant,,ENST00000599221,;ZNF551,downstream_gene_variant,,ENST00000599402,;	1799	76	85	SUCCESS
GPR108	56927	.	GRCh37	19	6730371	6730371	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	37	88	0	ENST00000264080.7:c.1584A>G	p.Glu528=	p.E528=	ENST00000264080	NM_001080452.1	528	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS42479.1	1584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTTCCCG	NONE	.	.	hmmpanther:PTHR21229:SF11,hmmpanther:PTHR21229	.	.	ENSP00000264080	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000264080	Transcript	.	.	ENSG00000125734	17829	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP108_HUMAN	GPR108	HGNC	Q96I30_HUMAN,M0QZ03_HUMAN,G5E9L6_HUMAN	.	UPI00001D8222	SNV	GPR108,synonymous_variant,p.%3D,ENST00000430424,;GPR108,synonymous_variant,p.%3D,ENST00000264080,;GPR108,synonymous_variant,p.%3D,ENST00000594034,;C3,intron_variant,,ENST00000600744,;GPR108,intron_variant,,ENST00000594500,;GPR108,downstream_gene_variant,,ENST00000597298,;GPR108,downstream_gene_variant,,ENST00000598955,;GPR108,downstream_gene_variant,,ENST00000601716,;GPR108,non_coding_transcript_exon_variant,,ENST00000598626,;GPR108,non_coding_transcript_exon_variant,,ENST00000537722,;GPR108,3_prime_UTR_variant,,ENST00000597706,;GPR108,3_prime_UTR_variant,,ENST00000595908,;GPR108,downstream_gene_variant,,ENST00000600773,;GPR108,downstream_gene_variant,,ENST00000595108,;GPR108,downstream_gene_variant,,ENST00000598052,;	1611	88	113	SUCCESS
PRAMEF16	0	.	GRCh37	1	13497676	13497676	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	82	0	ENST00000376121.3:c.973C>T	p.Leu325=	p.L325=	ENST00000376121	NM_001045480.1	325	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41259.1	973	RADIA|MUTECT|VARSCANS	.	AGGAGCTGCAT	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000365289	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376121	Transcript	.	.	ENSG00000204488	25767	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRA16_HUMAN	PRAMEF16	HGNC	.	.	UPI00004589BD	SNV	PRAMEF16,synonymous_variant,p.%3D,ENST00000376121,;	1003	82	97	SUCCESS
FLG	2312	.	GRCh37	1	152280666	152280666	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	45	109	0	ENST00000368799.1:c.6696G>T	p.Gly2232=	p.G2232=	ENST00000368799	NM_002016.1	2232	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30860.1	6696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCCTGA	BUFFER|p.S2231*|c.6692C>A|3	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6732	109	137	SUCCESS
FLG	2312	.	GRCh37	1	152280667	152280667	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766475081	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	44	110	0	ENST00000368799.1:c.6695G>T	p.Gly2232Val	p.G2232V	ENST00000368799	NM_002016.1	2232	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS30860.1	6695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCCTGAT	BUFFER|p.S2231*|c.6692C>A|3	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs766475081	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gly2232Val,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6731	110	138	SUCCESS
NUP210L	91181	.	GRCh37	1	154033101	154033101	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	70	0	ENST00000368559.3:c.2765T>C	p.Val922Ala	p.V922A	ENST00000368559	NM_207308.2	922	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS41399.1	2765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCACAAGG	NONE	.	.	hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	20/40	.	.	.	.	.	.	.	.	.	20/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	tolerated(0.75)	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,missense_variant,p.Val922Ala,ENST00000368559,;NUP210L,missense_variant,p.Val922Ala,ENST00000271854,;NUP210L,upstream_gene_variant,,ENST00000368553,;	2837	70	101	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576492	158576492	+	synonymous_variant	Silent	SNP	G	G	T	rs1384111125	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	58	0	ENST00000361284.1:c.264G>T	p.Gly88=	p.G88=	ENST00000361284	NM_001004478.1	88	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30901.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGGACCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,synonymous_variant,p.%3D,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	264	58	79	SUCCESS
FMO3	2328	.	GRCh37	1	171083272	171083272	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	54	0	ENST00000367755.4:c.953T>C	p.Ile318Thr	p.I318T	ENST00000367755	NM_001002294.2	318	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS1292.1	953	RADIA|MUTECT|MUSE	.	GACCATATTTG	NONE	.	.	hmmpanther:PTHR23023:SF44,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Superfamily_domains:SSF51905,Prints_domain:PR00370	.	.	ENSP00000356729	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000367755	Transcript	.	.	ENSG00000007933	3771	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.58)	.	FMO3_HUMAN	FMO3	HGNC	.	.	UPI000016A103	SNV	FMO3,missense_variant,p.Ile318Thr,ENST00000367755,;FMO3,missense_variant,p.Ile255Thr,ENST00000538429,;FMO3,missense_variant,p.Ile298Thr,ENST00000542847,;FMO3,missense_variant,p.Ile318Thr,ENST00000392085,;FMO3,downstream_gene_variant,,ENST00000479749,;	1064	54	84	SUCCESS
FMO3	2328	.	GRCh37	1	171083276	171083276	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	53	0	ENST00000367755.4:c.957T>G	p.Phe319Leu	p.F319L	ENST00000367755	NM_001002294.2	319	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS1292.1	957	RADIA|MUTECT|MUSE	.	ATATTTGAGGG	NONE	.	.	hmmpanther:PTHR23023:SF44,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Superfamily_domains:SSF51905,Prints_domain:PR00370	.	.	ENSP00000356729	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000367755	Transcript	.	.	ENSG00000007933	3771	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.669)	.	tolerated(0.16)	.	FMO3_HUMAN	FMO3	HGNC	.	.	UPI000016A103	SNV	FMO3,missense_variant,p.Phe319Leu,ENST00000367755,;FMO3,missense_variant,p.Phe256Leu,ENST00000538429,;FMO3,missense_variant,p.Phe299Leu,ENST00000542847,;FMO3,missense_variant,p.Phe319Leu,ENST00000392085,;FMO3,downstream_gene_variant,,ENST00000479749,;	1068	53	83	SUCCESS
MYOG	4656	.	GRCh37	1	203055032	203055032	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	59	96	0	ENST00000241651.4:c.58G>T	p.Glu20Ter	p.E20*	ENST00000241651	NM_002479.5	20	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1433.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCCCCAT	NONE	.	.	SMART_domains:SM00520,Pfam_domain:PF01586,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF5	.	.	ENSP00000241651	.	1/3	.	.	.	.	.	.	.	.	COSM3864150	1/3	PASS	ENST00000241651	Transcript	.	.	ENSG00000122180	7612	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MYOG_HUMAN	MYOG	HGNC	.	.	UPI000012FBA4	SNV	MYOG,stop_gained,p.Glu20Ter,ENST00000241651,;ADORA1,upstream_gene_variant,,ENST00000309502,;	133	96	151	SUCCESS
MARC1	0	.	GRCh37	1	220970004	220970004	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	42	82	0	ENST00000366910.5:c.469G>A	p.Glu157Lys	p.E157K	ENST00000366910	NM_022746.3	157	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1526.1	469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATAGAGGGC	NONE	.	.	Superfamily_domains:0052540,Pfam_domain:PF03476,hmmpanther:PTHR14237:SF13,hmmpanther:PTHR14237	.	.	ENSP00000355877	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000366910	Transcript	.	.	ENSG00000186205	26189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.37)	.	MOSC1_HUMAN	MARC1	HGNC	.	.	UPI000013C9EB	SNV	MARC1,missense_variant,p.Glu66Lys,ENST00000407981,;MARC1,missense_variant,p.Glu157Lys,ENST00000366910,;MARC1,upstream_gene_variant,,ENST00000443880,;MARC1,non_coding_transcript_exon_variant,,ENST00000496110,;MARC1,upstream_gene_variant,,ENST00000472269,;MARC1,downstream_gene_variant,,ENST00000492847,;MARC1,upstream_gene_variant,,ENST00000463976,;	655	82	121	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227239662	227239662	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	63	105	0	ENST00000334218.5:c.2905-3951G>T		p.*969*	ENST00000334218				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATACATATG	NONE	.	.	.	.	.	ENSP00000355731	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	MODIFIER	21/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,missense_variant,p.Val167Leu,ENST00000441725,;CDC42BPA,missense_variant,p.Val271Leu,ENST00000442054,;CDC42BPA,missense_variant,p.Val977Leu,ENST00000366766,;CDC42BPA,intron_variant,,ENST00000366767,;CDC42BPA,intron_variant,,ENST00000366769,;CDC42BPA,intron_variant,,ENST00000366765,;CDC42BPA,intron_variant,,ENST00000448940,;CDC42BPA,intron_variant,,ENST00000334218,;CDC42BPA,intron_variant,,ENST00000366764,;CDC42BPA,intron_variant,,ENST00000535525,;	.	105	148	SUCCESS
OBSCN	84033	.	GRCh37	1	228556439	228556439	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	62	0	ENST00000422127.1:c.19784T>C	p.Met6595Thr	p.M6595T	ENST00000422127	NM_001098623.2	6595	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS59204.1	22655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGATGGTGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000455507	.	100/116	.	.	.	.	.	.	.	.	.	100/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Met4229Thr,ENST00000366707,;OBSCN,missense_variant,p.Met1212Thr,ENST00000441106,;OBSCN,missense_variant,p.Met6595Thr,ENST00000422127,;OBSCN,missense_variant,p.Met7552Thr,ENST00000570156,;	22729	62	93	SUCCESS
TRIM58	25893	.	GRCh37	1	248039454	248039454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	68	92	0	ENST00000366481.3:c.1124C>A	p.Pro375Gln	p.P375Q	ENST00000366481	NM_015431.3	375	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS1636.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCATCTC	BUFFER|p.E372K|c.1114G>A|5,BUFFER|p.T374M|c.1121C>T|3	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000355437	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000366481	Transcript	.	.	ENSG00000162722	24150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	tolerated(0.33)	.	TRI58_HUMAN	TRIM58	HGNC	.	.	UPI000020590E	SNV	TRIM58,missense_variant,p.Pro375Gln,ENST00000366481,;OR2W3,intron_variant,,ENST00000537741,;	1172	92	131	SUCCESS
OR2L2	26246	.	GRCh37	1	248202072	248202072	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	55	0	ENST00000366479.2:c.503G>A	p.Cys168Tyr	p.C168Y	ENST00000366479	NM_001004686.2	168	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS31103.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTGCAAGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000355435	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366479	Transcript	.	.	ENSG00000203663	8266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	OR2L2_HUMAN	OR2L2	HGNC	.	.	UPI0000061EAA	SNV	OR2L2,missense_variant,p.Cys168Tyr,ENST00000366479,;OR2L13,intron_variant,,ENST00000366478,;	599	55	67	SUCCESS
EPB41	2035	.	GRCh37	1	29391656	29391656	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	62	106	0	ENST00000343067.4:c.2170C>A	p.Pro724Thr	p.P724T	ENST00000343067	NM_001166005.1	724	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS53288.1	2170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCCCACA	NONE	.	.	hmmpanther:PTHR23280:SF12,hmmpanther:PTHR23280,PIRSF_domain:PIRSF002304	.	.	ENSP00000345259	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000343067	Transcript	.	.	ENSG00000159023	3377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	41_HUMAN	EPB41	HGNC	.	.	UPI000014177D	SNV	EPB41,missense_variant,p.Pro691Thr,ENST00000356093,;EPB41,missense_variant,p.Pro724Thr,ENST00000373798,;EPB41,missense_variant,p.Pro635Thr,ENST00000347529,;EPB41,missense_variant,p.Pro482Thr,ENST00000373800,;EPB41,missense_variant,p.Pro670Thr,ENST00000398863,;EPB41,missense_variant,p.Pro710Thr,ENST00000373797,;EPB41,missense_variant,p.Pro501Thr,ENST00000349460,;EPB41,missense_variant,p.Pro724Thr,ENST00000343067,;EPB41,non_coding_transcript_exon_variant,,ENST00000490308,;EPB41,non_coding_transcript_exon_variant,,ENST00000488277,;	2297	106	159	SUCCESS
CSMD2	114784	.	GRCh37	1	34190962	34190962	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs199962081	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	25	91	0	ENST00000241312.4:c.2563C>T	p.Leu855Phe	p.L855F	ENST00000241312		855	Ctc/Ttc	0	.	A:0	.	A:0	.	A	L/F	nonsense_mediated_decay	YES	CCDS380.1	2563	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGAGCTGGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	A:0.002	.	ENSP00000241312	A:0	17/70	.	.	.	.	.	.	.	.	rs199962081	17/70	PASS	ENST00000241312	Transcript	.	A:0.0004	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.579)	A:0	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Leu895Phe,ENST00000373381,;CSMD2,missense_variant,p.Leu855Phe,ENST00000241312,;	2592	91	146	SUCCESS
CSMD2	114784	.	GRCh37	1	34204803	34204803	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	76	0	ENST00000241312.4:c.2186C>A	p.Thr729Asn	p.T729N	ENST00000241312		729	aCc/aAc	0	.	.	.	.	.	T	T/N	nonsense_mediated_decay	YES	CCDS380.1	2186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGTCTCT	BUFFER|p.V733I|c.2197G>A|3	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	15/70	.	.	.	.	.	.	.	.	.	15/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	deleterious(0.01)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Thr769Asn,ENST00000373381,;CSMD2,missense_variant,p.Thr729Asn,ENST00000241312,;	2215	76	88	SUCCESS
CYP4A22	284541	.	GRCh37	1	47606518	47606518	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	65	0	ENST00000371891.3:c.262T>G	p.Tyr88Asp	p.Y88D	ENST00000371891	NM_001010969.2	88	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS30707.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTTATTGG	NONE	.	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360958	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.2)	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	SNV	CYP4A22,missense_variant,p.Tyr88Asp,ENST00000371890,;CYP4A22,missense_variant,p.Tyr88Asp,ENST00000294337,;CYP4A22,missense_variant,p.Tyr88Asp,ENST00000371891,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	293	65	124	SUCCESS
DOCK7	85440	.	GRCh37	1	62953084	62953084	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	13	175	0	ENST00000340370.5:c.5401-1G>T		p.X1801_splice	ENST00000340370	NM_033407.3	1801		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30734.1	.	MUTECT|MUSE	.	GTACTCTGTAT	NONE	.	.	.	.	.	ENSP00000340742	.	.	.	.	.	.	.	.	.	.	COSM911372	.	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	HIGH	41/48	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,splice_acceptor_variant,,ENST00000340370,;DOCK7,splice_acceptor_variant,,ENST00000454575,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,downstream_gene_variant,,ENST00000479983,;	.	175	256	SUCCESS
ANGPTL3	27329	.	GRCh37	1	63070335	63070335	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	119	344	0	ENST00000371129.3:c.1230A>C	p.Glu410Asp	p.E410D	ENST00000371129	NM_014495.3	410	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS622.1	1230	RADIA|MUTECT|MUSE	.	GGAGAAAACAA	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000360170	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000371129	Transcript	.	.	ENSG00000132855	491	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.095)	.	tolerated(0.44)	.	ANGL3_HUMAN	ANGPTL3	HGNC	B1ALJ0_HUMAN	.	UPI000003722C	SNV	ANGPTL3,missense_variant,p.Glu410Asp,ENST00000371129,;DOCK7,intron_variant,,ENST00000404627,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000340370,;AL138847.1,upstream_gene_variant,,ENST00000593719,;ANGPTL3,downstream_gene_variant,,ENST00000482591,;ANGPTL3,downstream_gene_variant,,ENST00000493994,;	1310	344	379	SUCCESS
ANGPTL3	27329	.	GRCh37	1	63070357	63070357	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs4145257	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	265	82	336	0	ENST00000371129.3:c.1252A>G	p.Asn418Asp	p.N418D	ENST00000371129	NM_014495.3	418	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS622.1	1252	RADIA|MUTECT	.	AATATAACAAA	NONE	byHapMap	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000360170	.	7/7	.	.	.	.	.	.	.	.	rs4145257	7/7	PASS	ENST00000371129	Transcript	.	.	ENSG00000132855	491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.167)	.	tolerated(0.22)	.	ANGL3_HUMAN	ANGPTL3	HGNC	B1ALJ0_HUMAN	.	UPI000003722C	SNV	ANGPTL3,missense_variant,p.Asn418Asp,ENST00000371129,;DOCK7,intron_variant,,ENST00000404627,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000340370,;AL138847.1,upstream_gene_variant,,ENST00000593719,;ANGPTL3,downstream_gene_variant,,ENST00000482591,;ANGPTL3,downstream_gene_variant,,ENST00000493994,;	1332	336	348	SUCCESS
ANGPTL3	27329	.	GRCh37	1	63070362	63070362	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	261	85	337	1	ENST00000371129.3:c.1257A>G	p.Lys419=	p.K419=	ENST00000371129	NM_014495.3	419	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS622.1	1257	RADIA|MUTECT	.	AACAAACCAAG	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000360170	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000371129	Transcript	.	.	ENSG00000132855	491	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANGL3_HUMAN	ANGPTL3	HGNC	B1ALJ0_HUMAN	.	UPI000003722C	SNV	ANGPTL3,synonymous_variant,p.%3D,ENST00000371129,;DOCK7,intron_variant,,ENST00000404627,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000340370,;AL138847.1,upstream_gene_variant,,ENST00000593719,;ANGPTL3,downstream_gene_variant,,ENST00000482591,;ANGPTL3,downstream_gene_variant,,ENST00000493994,;	1337	338	346	SUCCESS
MIER1	57708	.	GRCh37	1	67436507	67436507	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	95	192	0	ENST00000355356.3:c.630T>A	p.Asp210Glu	p.D210E	ENST00000355356	NM_001077701.2	210	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS53326.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATCAGCT	NONE	.	.	PROSITE_profiles:PS51156,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24,Pfam_domain:PF01448	.	.	ENSP00000383820	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	SNV	MIER1,missense_variant,p.Asp210Glu,ENST00000355356,;MIER1,missense_variant,p.Asp147Glu,ENST00000355977,;MIER1,missense_variant,p.Asp210Glu,ENST00000401042,;MIER1,missense_variant,p.Asp227Glu,ENST00000371018,;MIER1,missense_variant,p.Asp263Glu,ENST00000371014,;MIER1,missense_variant,p.Asp263Glu,ENST00000401041,;MIER1,missense_variant,p.Asp227Glu,ENST00000371016,;MIER1,missense_variant,p.Asp227Glu,ENST00000357692,;	859	192	229	SUCCESS
ZRANB2	9406	.	GRCh37	1	71546699	71546699	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	54	0	ENST00000370920.3:c.-21G>A		p.*7*	ENST00000370920	NM_203350.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS659.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCACCC	NONE	.	.	.	.	.	ENSP00000359958	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000370920	Transcript	.	.	ENSG00000132485	13058	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZRAB2_HUMAN	ZRANB2	HGNC	.	.	UPI000013CE63	SNV	ZRANB2,5_prime_UTR_variant,,ENST00000370920,;ZRANB2,upstream_gene_variant,,ENST00000254821,;ZRANB2-AS2,upstream_gene_variant,,ENST00000583678,;ZRANB2-AS2,upstream_gene_variant,,ENST00000594152,;ZRANB2-AS2,upstream_gene_variant,,ENST00000413421,;ZRANB2-AS2,upstream_gene_variant,,ENST00000599146,;ZRANB2-AS2,upstream_gene_variant,,ENST00000596952,;ZRANB2-AS2,upstream_gene_variant,,ENST00000455406,;	282	54	86	SUCCESS
PIK3CD	5293	.	GRCh37	1	9775778	9775778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	82	132	0	ENST00000377346.4:c.321C>A	p.Asp107Glu	p.D107E	ENST00000377346	NM_005026.3	107	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS104.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGACCGCGT	NONE	.	.	hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Pfam_domain:PF02192,SMART_domains:SM00143,Superfamily_domains:SSF54236	.	.	ENSP00000366563	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000377346	Transcript	.	.	ENSG00000171608	8977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.5)	.	deleterious(0.01)	.	PK3CD_HUMAN	PIK3CD	HGNC	B7ZM44_HUMAN	.	UPI000013E807	SNV	PIK3CD,missense_variant,p.Asp107Glu,ENST00000536656,;PIK3CD,missense_variant,p.Asp107Glu,ENST00000377346,;PIK3CD,missense_variant,p.Asp107Glu,ENST00000361110,;PIK3CD,upstream_gene_variant,,ENST00000543390,;PIK3CD,non_coding_transcript_exon_variant,,ENST00000481137,;PIK3CD,upstream_gene_variant,,ENST00000479223,;	516	132	188	SUCCESS
NXT1	29107	.	GRCh37	20	23334667	23334667	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	42	64	1	ENST00000254998.2:c.-12A>G		p.*4*	ENST00000254998	NM_013248.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCATAGAA	NONE	.	.	.	.	.	ENSP00000254998	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000254998	Transcript	.	.	ENSG00000132661	15913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXT1_HUMAN	NXT1	HGNC	.	.	UPI0000111F8B	SNV	NXT1,5_prime_UTR_variant,,ENST00000254998,;AL096677.1,upstream_gene_variant,,ENST00000596205,;RP3-322G13.5,downstream_gene_variant,,ENST00000444981,;RP3-322G13.5,downstream_gene_variant,,ENST00000442440,;RP3-322G13.5,downstream_gene_variant,,ENST00000452395,;RP3-322G13.7,upstream_gene_variant,,ENST00000442884,;	376	65	87	SUCCESS
CST11	140880	.	GRCh37	20	23433401	23433401	+	synonymous_variant	Silent	SNP	T	T	C	rs757399085	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	51	88	0	ENST00000377009.3:c.48A>G	p.Leu16=	p.L16=	ENST00000377009	NM_130794.1	16	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13155.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAATAGAAT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11413:SF7,hmmpanther:PTHR11413	.	.	ENSP00000366208	.	1/3	.	.	.	.	.	.	.	.	rs757399085	1/3	PASS	ENST00000377009	Transcript	.	.	ENSG00000125831	15959	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST11_HUMAN	CST11	HGNC	.	.	UPI00000714F3	SNV	CST11,synonymous_variant,p.%3D,ENST00000377009,;CST11,synonymous_variant,p.%3D,ENST00000377007,;Y_RNA,downstream_gene_variant,,ENST00000363338,;	82	88	112	SUCCESS
TLDC2	140711	.	GRCh37	20	35507490	35507490	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	55	0	ENST00000217320.3:c.236T>A	p.Leu79Gln	p.L79Q	ENST00000217320	NM_080628.1	79	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS33465.1	236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCTGGTCT	NONE	.	.	hmmpanther:PTHR23354,Pfam_domain:PF07534,SMART_domains:SM00584	.	.	ENSP00000217320	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000217320	Transcript	.	.	ENSG00000101342	16112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TLDC2_HUMAN	TLDC2	HGNC	.	.	UPI000049DF51	SNV	TLDC2,missense_variant,p.Leu79Gln,ENST00000602922,;TLDC2,missense_variant,p.Leu79Gln,ENST00000217320,;	280	55	76	SUCCESS
SEMG2	6407	.	GRCh37	20	43850459	43850459	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	211	29	187	0	ENST00000372769.3:c.186T>C	p.Ser62=	p.S62=	ENST00000372769	NM_003008.2	62	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS13346.1	186	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGTTTTTC	NONE	.	.	hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6,Pfam_domain:PF05474	.	.	ENSP00000361855	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000372769	Transcript	.	.	ENSG00000124157	10743	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEMG2_HUMAN	SEMG2	HGNC	.	.	UPI0000135845	SNV	SEMG2,synonymous_variant,p.%3D,ENST00000372769,;	276	187	240	SUCCESS
ZNF831	128611	.	GRCh37	20	57767217	57767217	+	synonymous_variant	Silent	SNP	G	G	A	rs1018685125	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	43	65	0	ENST00000371030.2:c.1143G>A	p.Pro381=	p.P381=	ENST00000371030	NM_178457.2	381	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42894.1	1143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	1143	65	104	SUCCESS
SLC17A9	63910	.	GRCh37	20	61593986	61593986	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	52	0	ENST00000370351.4:c.508A>T	p.Thr170Ser	p.T170S	ENST00000370351	NM_022082.3	170	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS42901.1	508	MUTECT|MUSE	.	TGCTGACCGGG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	.	.	ENSP00000359376	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000370351	Transcript	1	.	ENSG00000101194	16192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.314)	.	deleterious(0.03)	.	S17A9_HUMAN	SLC17A9	HGNC	.	.	UPI000014051D	SNV	SLC17A9,missense_variant,p.Thr170Ser,ENST00000370351,;SLC17A9,missense_variant,p.Thr164Ser,ENST00000370349,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000459704,;SLC17A9,upstream_gene_variant,,ENST00000483113,;SLC17A9,upstream_gene_variant,,ENST00000487303,;	639	52	56	SUCCESS
COL20A1	57642	.	GRCh37	20	61943276	61943276	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	3	58	0	ENST00000358894.6:c.1672G>C	p.Ala558Pro	p.A558P	ENST00000358894	NM_020882.2	558	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS46628.1	1672	MUTECT|MUSE	.	CCCTGGCCCCC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,PROSITE_profiles:PS50853	.	.	ENSP00000351767	.	14/36	.	.	.	.	.	.	.	.	.	14/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.42)	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,missense_variant,p.Ala558Pro,ENST00000358894,;COL20A1,missense_variant,p.Ala565Pro,ENST00000422202,;COL20A1,missense_variant,p.Ala558Pro,ENST00000326996,;COL20A1,missense_variant,p.Ala565Pro,ENST00000435874,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	1772	58	64	SUCCESS
YDJC	150223	.	GRCh37	22	21982898	21982898	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1333688219	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	68	0	ENST00000292778.6:c.781C>T	p.Pro261Ser	p.P261S	ENST00000292778	NM_001017964.1	261	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33613.1	781	RADIA|MUTECT|MUSE	.	GTCGGGGCCTT	BUFFER|p.A263T|c.787G>A|5	.	.	hmmpanther:PTHR31609,Pfam_domain:PF04794,Gene3D:3.20.20.370,Superfamily_domains:SSF88713	.	.	ENSP00000292778	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000292778	Transcript	.	.	ENSG00000161179	27158	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	YDJC_HUMAN	YDJC	HGNC	.	.	UPI00001613F8	SNV	YDJC,missense_variant,p.Pro261Ser,ENST00000292778,;YDJC,3_prime_UTR_variant,,ENST00000398873,;CCDC116,upstream_gene_variant,,ENST00000607942,;CCDC116,upstream_gene_variant,,ENST00000292779,;CCDC116,upstream_gene_variant,,ENST00000425975,;UBE2L3,downstream_gene_variant,,ENST00000342192,;YDJC,3_prime_UTR_variant,,ENST00000415762,;YDJC,non_coding_transcript_exon_variant,,ENST00000482998,;YDJC,non_coding_transcript_exon_variant,,ENST00000464015,;YDJC,non_coding_transcript_exon_variant,,ENST00000468686,;YDJC,non_coding_transcript_exon_variant,,ENST00000473985,;UBE2L3,downstream_gene_variant,,ENST00000496722,;	831	69	86	SUCCESS
CRYBA4	1413	.	GRCh37	22	27021475	27021475	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs756618392	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	34	0	ENST00000354760.3:c.189A>C	p.Gln63His	p.Q63H	ENST00000354760	NM_001886.2	63	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS13841.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAAGGGCA	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF19,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367	.	.	ENSP00000346805	.	4/6	.	.	.	.	.	.	.	.	rs756618392	4/6	PASS	ENST00000354760	Transcript	.	.	ENSG00000196431	2396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.1)	.	CRBA4_HUMAN	CRYBA4	HGNC	.	.	UPI0000167B21	SNV	CRYBA4,missense_variant,p.Gln63His,ENST00000354760,;CRYBA4,non_coding_transcript_exon_variant,,ENST00000466315,;	224	34	43	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125530441	125530441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	14	85	0	ENST00000431078.1:c.2596C>T	p.Pro866Ser	p.P866S	ENST00000431078	NM_130773.3	866	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46401.1	2596	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTCCTTCT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.107)	.	tolerated(0.25)	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.Pro866Ser,ENST00000431078,;	2960	85	108	SUCCESS
AMER3	205147	.	GRCh37	2	131520209	131520209	+	synonymous_variant	Silent	SNP	G	G	A	rs777251443	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	51	0	ENST00000321420.4:c.564G>A	p.Gly188=	p.G188=	ENST00000321420		188	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2164.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGGACCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	rs777251443,COSM569759	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,synonymous_variant,p.%3D,ENST00000321420,;AMER3,synonymous_variant,p.%3D,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	674	51	56	SUCCESS
MAP3K19	80122	.	GRCh37	2	135743849	135743849	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	67	0	ENST00000375845.3:c.2593A>G	p.Asn865Asp	p.N865D	ENST00000375845	NM_025052.3	865	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS2176.2	2593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTAGAAT	NONE	.	.	hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	.	.	ENSP00000365005	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.67)	.	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,missense_variant,p.Asn865Asp,ENST00000375845,;MAP3K19,missense_variant,p.Asn255Asp,ENST00000437365,;MAP3K19,missense_variant,p.Asn882Asp,ENST00000392915,;MAP3K19,missense_variant,p.Asn752Asp,ENST00000358371,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000392917,;MAP3K19,intron_variant,,ENST00000375844,;MAP3K19,intron_variant,,ENST00000392918,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	2624	67	90	SUCCESS
XIRP2	129446	.	GRCh37	2	168107365	168107365	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	107	0	ENST00000409195.1:c.9463C>T	p.Pro3155Ser	p.P3155S	ENST00000409195	NM_152381.5	3155	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42769.1	9463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACCAAGA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	COSM362062	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.109)	.	.	1	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Pro2933Ser,ENST00000409273,;XIRP2,missense_variant,p.Pro3155Ser,ENST00000409195,;XIRP2,missense_variant,p.Pro3155Ser,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	9552	107	92	SUCCESS
TTN	7273	.	GRCh37	2	179434324	179434324	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	80	135	0	ENST00000591111.1:c.71612T>A	p.Leu23871His	p.L23871H	ENST00000591111		23871	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS59435.1	76535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAAGATCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu16572His,ENST00000359218,;TTN,missense_variant,p.Leu23871His,ENST00000591111,;TTN,missense_variant,p.Leu25512His,ENST00000589042,;TTN,missense_variant,p.Leu16639His,ENST00000342175,;TTN,missense_variant,p.Leu22944His,ENST00000342992,;TTN,missense_variant,p.Leu16447His,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	76760	135	144	SUCCESS
WDR35	57539	.	GRCh37	2	20173444	20173447	+	frameshift_variant	Frame_Shift_Del	DEL	CATG	CATG	-	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	CATG	CATG	.	.	.	.	.	.	.	.	.	.	.	.	.	71	42	147	0	ENST00000345530.3:c.759_762del	p.Met254ThrfsTer2	p.M254Tfs*2	ENST00000345530	NM_001006657.1	253	ggCATG/gg	0	.	.	.	.	.	-	GM/X	protein_coding	YES	CCDS33152.1	759-762	INDELOCATOR*|VARSCANI*|PINDEL	.	TACGTACATGCCAGT	NONE	.	.	hmmpanther:PTHR16517:SF1,hmmpanther:PTHR16517,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037536,Superfamily_domains:SSF82171	.	.	ENSP00000314444	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000345530	Transcript	.	.	ENSG00000118965	29250	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR35_HUMAN	WDR35	HGNC	.	.	UPI000034E5D3	deletion	WDR35,frameshift_variant,p.Met254ThrfsTer2,ENST00000345530,;WDR35,frameshift_variant,p.Met254ThrfsTer2,ENST00000281405,;WDR35,5_prime_UTR_variant,,ENST00000416055,;WDR35,frameshift_variant,p.Met254ThrfsTer2,ENST00000414212,;WDR35,frameshift_variant,p.Met100ThrfsTer2,ENST00000445063,;	875-878	147	113	SUCCESS
IDH1	3417	.	GRCh37	2	209110051	209110051	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	79	0	ENST00000345146.2:c.512A>C	p.Asn171Thr	p.N171T	ENST00000345146	NM_005896.2	171	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS2381.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTTATGT	NONE	.	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.09)	.	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Asn171Thr,ENST00000415913,;IDH1,missense_variant,p.Asn171Thr,ENST00000345146,;IDH1,missense_variant,p.Asn171Thr,ENST00000446179,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000462386,;	894	79	103	SUCCESS
ANKZF1	55139	.	GRCh37	2	220096992	220096992	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1380582732	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	56	105	0	ENST00000323348.5:c.272A>G	p.Tyr91Cys	p.Y91C	ENST00000323348	NM_018089.2	91	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS42821.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTATAAGC	NONE	.	.	hmmpanther:PTHR16036,hmmpanther:PTHR16036:SF2,PROSITE_patterns:PS00028	.	.	ENSP00000321617	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000323348	Transcript	.	.	ENSG00000163516	25527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ANKZ1_HUMAN	ANKZF1	HGNC	C9K022_HUMAN,C9JS61_HUMAN,C9JQZ3_HUMAN,B8ZZS4_HUMAN	.	UPI000007069C	SNV	ANKZF1,missense_variant,p.Tyr91Cys,ENST00000447157,;ANKZF1,missense_variant,p.Tyr26Cys,ENST00000453432,;ANKZF1,missense_variant,p.Tyr91Cys,ENST00000323348,;ANKZF1,missense_variant,p.Tyr91Cys,ENST00000410034,;ANKZF1,incomplete_terminal_codon_variant,p.%3D,ENST00000436226,;ANKZF1,intron_variant,,ENST00000409849,;GLB1L,downstream_gene_variant,,ENST00000409640,;ATG9A,upstream_gene_variant,,ENST00000439812,;ATG9A,upstream_gene_variant,,ENST00000432520,;ATG9A,upstream_gene_variant,,ENST00000409422,;ATG9A,upstream_gene_variant,,ENST00000396761,;ATG9A,upstream_gene_variant,,ENST00000436856,;GLB1L,downstream_gene_variant,,ENST00000392089,;ATG9A,upstream_gene_variant,,ENST00000434939,;ANKZF1,downstream_gene_variant,,ENST00000416565,;ATG9A,upstream_gene_variant,,ENST00000431715,;GLB1L,downstream_gene_variant,,ENST00000295759,;ATG9A,upstream_gene_variant,,ENST00000428226,;ATG9A,upstream_gene_variant,,ENST00000443140,;ATG9A,upstream_gene_variant,,ENST00000361242,;GLB1L,downstream_gene_variant,,ENST00000356283,;ATG9A,upstream_gene_variant,,ENST00000457841,;ATG9A,upstream_gene_variant,,ENST00000409618,;GLB1L,downstream_gene_variant,,ENST00000497855,;ATG9A,upstream_gene_variant,,ENST00000488833,;ANKZF1,synonymous_variant,p.%3D,ENST00000435521,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000465550,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000474225,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000463792,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000486203,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000461731,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000493563,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000489580,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000477479,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000491181,;ANKZF1,intron_variant,,ENST00000496346,;ANKZF1,intron_variant,,ENST00000475202,;ANKZF1,intron_variant,,ENST00000467884,;ANKZF1,upstream_gene_variant,,ENST00000490526,;ANKZF1,upstream_gene_variant,,ENST00000468387,;ATG9A,upstream_gene_variant,,ENST00000466217,;ATG9A,upstream_gene_variant,,ENST00000486766,;ATG9A,upstream_gene_variant,,ENST00000412355,;ATG9A,upstream_gene_variant,,ENST00000455079,;ANKZF1,upstream_gene_variant,,ENST00000494886,;ATG9A,upstream_gene_variant,,ENST00000456708,;ANKZF1,upstream_gene_variant,,ENST00000460966,;ANKZF1,upstream_gene_variant,,ENST00000483188,;ANKZF1,downstream_gene_variant,,ENST00000464763,;ATG9A,upstream_gene_variant,,ENST00000409033,;	446	105	105	SUCCESS
STK11IP	114790	.	GRCh37	2	220471465	220471465	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	45	0	ENST00000295641.10:c.1052G>A	p.Gly351Asp	p.G351D	ENST00000295641	NM_052902.2	351	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS46521.1	1052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGCCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15454:SF16,hmmpanther:PTHR15454	.	.	ENSP00000295641	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000295641	Transcript	.	.	ENSG00000144589	19184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	tolerated(0.05)	.	S11IP_HUMAN	STK11IP	HGNC	C9JQV3_HUMAN	.	UPI0001AE7798	SNV	STK11IP,missense_variant,p.Gly340Asp,ENST00000456909,;STK11IP,missense_variant,p.Gly351Asp,ENST00000295641,;STK11IP,upstream_gene_variant,,ENST00000483319,;STK11IP,downstream_gene_variant,,ENST00000468584,;STK11IP,downstream_gene_variant,,ENST00000459692,;STK11IP,non_coding_transcript_exon_variant,,ENST00000475396,;STK11IP,non_coding_transcript_exon_variant,,ENST00000466648,;STK11IP,upstream_gene_variant,,ENST00000473899,;STK11IP,downstream_gene_variant,,ENST00000465230,;STK11IP,downstream_gene_variant,,ENST00000475843,;STK11IP,downstream_gene_variant,,ENST00000456857,;	1095	45	43	SUCCESS
CTNNA2	1496	.	GRCh37	2	80101354	80101354	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	75	0	ENST00000402739.4:c.738A>T	p.Gln246His	p.Q246H	ENST00000402739	NM_001282597.1	246	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS42703.2	738	RADIA|MUTECT|MUSE|VARSCANS	.	AAACAAGTCCA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Gln246His,ENST00000496558,;CTNNA2,missense_variant,p.Gln246His,ENST00000540488,;CTNNA2,missense_variant,p.Gln280His,ENST00000361291,;CTNNA2,missense_variant,p.Gln246His,ENST00000466387,;CTNNA2,missense_variant,p.Gln246His,ENST00000541047,;CTNNA2,missense_variant,p.Gln246His,ENST00000402739,;	1462	75	90	SUCCESS
LRRTM1	347730	.	GRCh37	2	80529914	80529914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	37	126	0	ENST00000295057.3:c.1031G>T	p.Ser344Ile	p.S344I	ENST00000295057	NM_178839.4	344	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS1966.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCTGGCG	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Gene3D:3.80.10.10	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	deleterious(0)	.	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,missense_variant,p.Ser344Ile,ENST00000295057,;LRRTM1,missense_variant,p.Ser344Ile,ENST00000409148,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;LRRTM1,downstream_gene_variant,,ENST00000415098,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000416268,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Ser344Ile,ENST00000417012,;LRRTM1,missense_variant,p.Ser344Ile,ENST00000433224,;	1688	126	129	SUCCESS
DNAH6	1768	.	GRCh37	2	84880999	84880999	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	52	0	ENST00000237449.6:c.5634+1G>A		p.X1878_splice	ENST00000237449		1878		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46348.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGGTAAGT	NONE	.	.	.	.	.	ENSP00000374045	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	HIGH	34/76	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,splice_donor_variant,,ENST00000237449,;DNAH6,splice_donor_variant,,ENST00000398278,;DNAH6,splice_donor_variant,,ENST00000389394,;DNAH6,upstream_gene_variant,,ENST00000602588,;	.	52	55	SUCCESS
ANKRD36	375248	.	GRCh37	2	97881195	97881195	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1166563459	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	71	0	ENST00000420699.2:c.3634A>G	p.Ile1212Val	p.I1212V	ENST00000420699	NM_001164315.1	1212	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS54379.1	3634	MUTECT|MUSE|VARSCANS	.	CGAATATAGCC	NONE	.	.	hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1	.	.	ENSP00000391950	.	62/76	.	.	.	.	.	.	.	.	.	62/76	PASS	ENST00000420699	Transcript	.	.	ENSG00000135976	24079	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.842)	.	tolerated(0.12)	.	AN36A_HUMAN	ANKRD36	HGNC	.	.	UPI0001B23BB4	SNV	ANKRD36,missense_variant,p.Ile1212Val,ENST00000461153,;ANKRD36,missense_variant,p.Ile1212Val,ENST00000420699,;ANKRD36,non_coding_transcript_exon_variant,,ENST00000421946,;	3878	71	88	SUCCESS
GPR156	165829	.	GRCh37	3	119911830	119911830	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs138857726	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	46	0	ENST00000315843.3:c.430C>T	p.Arg144Ter	p.R144*	ENST00000315843	NM_153002.2	144	Cga/Tga	0	A:0.0002	.	.	.	.	A	R/*	protein_coding	YES	CCDS2997.1	430	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGCCAGC	NONE	byCluster	.	Prints_domain:PR01176,Pfam_domain:PF00003,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF31,PROSITE_profiles:PS50259	.	A:0	ENSP00000417261	.	5/10	.	.	.	.	.	.	.	.	rs138857726	5/10	PASS	ENST00000464295	Transcript	.	.	ENSG00000175697	20844	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GP156_HUMAN	GPR156	HGNC	.	.	UPI000004731C	SNV	GPR156,stop_gained,p.Arg144Ter,ENST00000315843,;GPR156,stop_gained,p.Arg144Ter,ENST00000461057,;GPR156,stop_gained,p.Arg144Ter,ENST00000464295,;GPR156,intron_variant,,ENST00000495912,;	876	46	73	SUCCESS
POLQ	10721	.	GRCh37	3	121168168	121168168	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	67	112	0	ENST00000264233.5:c.7258T>A	p.Tyr2420Asn	p.Y2420N	ENST00000264233	NM_199420.3	2420	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS33833.1	7258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTATCTGG	NONE	.	.	Gene3D:1.10.150.20,Pfam_domain:PF00476,SMART_domains:SM00482,Superfamily_domains:SSF56672	.	.	ENSP00000264233	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Tyr2420Asn,ENST00000264233,;POLQ,non_coding_transcript_exon_variant,,ENST00000474243,;	7387	112	152	SUCCESS
KPNA1	3836	.	GRCh37	3	122160952	122160952	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	236	161	294	0	ENST00000344337.6:c.929A>G	p.Tyr310Cys	p.Y310C	ENST00000344337	NM_002264.3	310	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3013.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATAATCA	NONE	.	.	hmmpanther:PTHR23316:SF3,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371	.	.	ENSP00000343701	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000344337	Transcript	.	.	ENSG00000114030	6394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	tolerated(0.15)	.	IMA5_HUMAN	KPNA1	HGNC	C9JYI4_HUMAN,C9JWD9_HUMAN,C9J4U1_HUMAN,B3KXZ2_HUMAN	.	UPI000013D524	SNV	KPNA1,missense_variant,p.Tyr310Cys,ENST00000344337,;KPNA1,missense_variant,p.Tyr310Cys,ENST00000465882,;RP11-299J3.8,intron_variant,,ENST00000609469,;KPNA1,non_coding_transcript_exon_variant,,ENST00000470904,;KPNA1,non_coding_transcript_exon_variant,,ENST00000466923,;KPNA1,3_prime_UTR_variant,,ENST00000485027,;KPNA1,3_prime_UTR_variant,,ENST00000494339,;	1106	294	397	SUCCESS
PARP14	54625	.	GRCh37	3	122447347	122447347	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	72	0	ENST00000474629.2:c.5309A>G	p.Tyr1770Cys	p.Y1770C	ENST00000474629	NM_017554.2	1770	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46894.1	5309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTATGACA	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	.	.	ENSP00000418194	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000474629	Transcript	.	.	ENSG00000173193	29232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PAR14_HUMAN	PARP14	HGNC	.	.	UPI00015A20AB	SNV	PARP14,missense_variant,p.Tyr1770Cys,ENST00000474629,;PARP14,3_prime_UTR_variant,,ENST00000460683,;	5575	72	130	SUCCESS
SEMA5B	54437	.	GRCh37	3	122658315	122658315	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	65	0	ENST00000357599.3:c.431A>G	p.Asn144Ser	p.N144S	ENST00000357599	NM_001256348.1	144	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS58848.1	593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGTTCCTG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000389588	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,missense_variant,p.Asn144Ser,ENST00000357599,;SEMA5B,missense_variant,p.Asn144Ser,ENST00000195173,;SEMA5B,missense_variant,p.Asn198Ser,ENST00000451055,;SEMA5B,missense_variant,p.Asn144Ser,ENST00000393583,;SEMA5B,downstream_gene_variant,,ENST00000421053,;SEMA5B,downstream_gene_variant,,ENST00000465147,;SEMA5B,missense_variant,p.Asn144Ser,ENST00000475244,;	604	65	82	SUCCESS
ATP11B	23200	.	GRCh37	3	182554178	182554178	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	38	81	0	ENST00000323116.5:c.472T>A	p.Leu158Met	p.L158M	ENST00000323116	NM_014616.2	158	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS33896.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTTGGTG	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Superfamily_domains:0049471	.	.	ENSP00000321195	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000323116	Transcript	.	.	ENSG00000058063	13553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.1)	.	AT11B_HUMAN	ATP11B	HGNC	B4E3T1_HUMAN	.	UPI000004124E	SNV	ATP11B,missense_variant,p.Leu158Met,ENST00000493826,;ATP11B,missense_variant,p.Leu158Met,ENST00000323116,;ATP11B,upstream_gene_variant,,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000482794,;	732	81	106	SUCCESS
VWA5B2	90113	.	GRCh37	3	183955168	183955168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	38	0	ENST00000426955.2:c.1688G>A	p.Arg563Lys	p.R563K	ENST00000426955	NM_138345.1	563	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS54686.1	1688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGGGTGG	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.2)	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Arg344Lys,ENST00000273794,;VWA5B2,missense_variant,p.Arg563Lys,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,upstream_gene_variant,,ENST00000408193,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000411922,;VWA5B2,downstream_gene_variant,,ENST00000497229,;VWA5B2,downstream_gene_variant,,ENST00000474580,;	1788	38	63	SUCCESS
TCAIM	285343	.	GRCh37	3	44434442	44434442	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	119	284	0	ENST00000342649.4:c.668C>G	p.Ser223Cys	p.S223C	ENST00000342649	NM_173826.3	223	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2712.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTCTCATC	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Ser223Cys,ENST00000342649,;TCAIM,missense_variant,p.Ser223Cys,ENST00000417237,;TCAIM,upstream_gene_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000417768,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;	1095	284	358	SUCCESS
PLXNB1	5364	.	GRCh37	3	48463572	48463572	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	56	0	ENST00000296440.6:c.1462T>A	p.Cys488Ser	p.C488S	ENST00000296440	NM_001130082.1	488	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS2765.1	1462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACAGTCCA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Pfam_domain:PF01437,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000351338	.	6/38	.	.	.	.	.	.	.	.	.	6/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,missense_variant,p.Cys488Ser,ENST00000358536,;PLXNB1,missense_variant,p.Cys488Ser,ENST00000296440,;PLXNB1,missense_variant,p.Cys488Ser,ENST00000456774,;PLXNB1,missense_variant,p.Cys488Ser,ENST00000358459,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Cys488Ser,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	1732	56	86	SUCCESS
CADPS	8618	.	GRCh37	3	62860425	62860425	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	36	0	ENST00000383710.4:c.280C>G	p.Pro94Ala	p.P94A	ENST00000383710	NM_003716.3	94	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS46858.1	280	MUTECT|MUSE	.	CGACGGGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.05)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Pro94Ala,ENST00000357948,;CADPS,missense_variant,p.Pro94Ala,ENST00000283269,;CADPS,missense_variant,p.Pro94Ala,ENST00000383710,;CADPS,missense_variant,p.Pro94Ala,ENST00000490353,;	630	36	27	SUCCESS
VEGFC	7424	.	GRCh37	4	177713482	177713482	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	33	92	0	ENST00000280193.2:c.-17C>A		p.*6*	ENST00000280193	NM_005429.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGTGGGG	NONE	.	.	.	.	.	ENSP00000280193	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000280193	Transcript	1	.	ENSG00000150630	12682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VEGFC_HUMAN	VEGFC	HGNC	.	.	UPI000020B749	SNV	VEGFC,5_prime_UTR_variant,,ENST00000280193,;	400	92	49	SUCCESS
SLIT2	9353	.	GRCh37	4	20618809	20618809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	58	92	0	ENST00000504154.1:c.4124G>A	p.Cys1375Tyr	p.C1375Y	ENST00000504154	NM_004787.1	1375	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS3426.1	4124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGCCTTG	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000422591	.	35/37	.	.	.	.	.	.	.	.	.	35/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.Cys1388Tyr,ENST00000273739,;SLIT2,missense_variant,p.Cys1375Tyr,ENST00000504154,;SLIT2,missense_variant,p.Cys1367Tyr,ENST00000503823,;SLIT2,missense_variant,p.Cys1371Tyr,ENST00000503837,;SLIT2,intron_variant,,ENST00000512993,;SLIT2,non_coding_transcript_exon_variant,,ENST00000508541,;	4376	92	141	SUCCESS
SLIT2	9353	.	GRCh37	4	20618810	20618810	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	59	93	0	ENST00000504154.1:c.4125C>A	p.Cys1375Ter	p.C1375*	ENST00000504154	NM_004787.1	1375	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS3426.1	4125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCTTGG	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000422591	.	35/37	.	.	.	.	.	.	.	.	.	35/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,stop_gained,p.Cys1388Ter,ENST00000273739,;SLIT2,stop_gained,p.Cys1375Ter,ENST00000504154,;SLIT2,stop_gained,p.Cys1367Ter,ENST00000503823,;SLIT2,stop_gained,p.Cys1371Ter,ENST00000503837,;SLIT2,intron_variant,,ENST00000512993,;SLIT2,non_coding_transcript_exon_variant,,ENST00000508541,;	4377	93	142	SUCCESS
ZNF141	7700	.	GRCh37	4	366828	366828	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	73	0	ENST00000240499.7:c.602G>A	p.Cys201Tyr	p.C201Y	ENST00000240499	NM_003441.2	201	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS33931.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTGTGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF102,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000240499	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000240499	Transcript	1	.	ENSG00000131127	12926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	ZN141_HUMAN	ZNF141	HGNC	Q4W5N2_HUMAN	.	UPI000013C2FB	SNV	ZNF141,missense_variant,p.Cys201Tyr,ENST00000240499,;ZNF141,intron_variant,,ENST00000505939,;ZNF141,intron_variant,,ENST00000512994,;ZNF141,upstream_gene_variant,,ENST00000579770,;ZNF141,downstream_gene_variant,,ENST00000366506,;	751	73	122	SUCCESS
BMP3	651	.	GRCh37	4	81952752	81952752	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	20	54	0	ENST00000282701.2:c.314C>T	p.Ala105Val	p.A105V	ENST00000282701	NM_001201.2	105	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3588.1	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCAGGTG	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF144,Pfam_domain:PF00688,PIRSF_domain:PIRSF037403	.	.	ENSP00000282701	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000282701	Transcript	.	.	ENSG00000152785	1070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	deleterious(0.01)	.	BMP3_HUMAN	BMP3	HGNC	D7NU02_HUMAN,D7NT62_HUMAN	.	UPI0000051C21	SNV	BMP3,missense_variant,p.Ala105Val,ENST00000282701,;	634	54	35	SUCCESS
DNAH5	1767	.	GRCh37	5	13829748	13829748	+	synonymous_variant	Silent	SNP	G	G	A	rs1275214512	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	59	75	0	ENST00000265104.4:c.6315C>T	p.Ala2105=	p.A2105=	ENST00000265104	NM_001369.2	2105	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3882.1	6315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATGGCCAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	38/79	.	.	.	.	.	.	.	.	.	38/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	6420	75	115	SUCCESS
TMCO6	55374	.	GRCh37	5	140022524	140022525	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CACAG	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	61	0	ENST00000394671.3:c.707_708insAGCAC	p.Leu237AlafsTer81	p.L237Afs*81	ENST00000394671	NM_018502.3	235	tcc/tcCACAGc	0	.	.	.	.	.	CACAG	S/STX	protein_coding	YES	CCDS4233.2	704-705	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCTCCACTC	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR16356	.	.	ENSP00000378166	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000394671	Transcript	.	.	ENSG00000113119	28814	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMCO6_HUMAN	TMCO6	HGNC	.	.	UPI00003E5FF0	insertion	TMCO6,frameshift_variant,p.Leu237AlafsTer81,ENST00000394671,;TMCO6,frameshift_variant,p.Leu243AlafsTer81,ENST00000252100,;TMCO6,5_prime_UTR_variant,,ENST00000537378,;IK,upstream_gene_variant,,ENST00000513256,;NDUFA2,downstream_gene_variant,,ENST00000252102,;IK,upstream_gene_variant,,ENST00000417647,;IK,upstream_gene_variant,,ENST00000508301,;IK,upstream_gene_variant,,ENST00000507593,;NDUFA2,downstream_gene_variant,,ENST00000512088,;TMCO6,downstream_gene_variant,,ENST00000511410,;MIR3655,upstream_gene_variant,,ENST00000581765,;NDUFA2,intron_variant,,ENST00000510680,;IK,upstream_gene_variant,,ENST00000523672,;TMCO6,3_prime_UTR_variant,,ENST00000515653,;TMCO6,3_prime_UTR_variant,,ENST00000504069,;TMCO6,non_coding_transcript_exon_variant,,ENST00000515265,;TMCO6,non_coding_transcript_exon_variant,,ENST00000510336,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509605,;IK,upstream_gene_variant,,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000505086,;TMCO6,downstream_gene_variant,,ENST00000509217,;TMCO6,upstream_gene_variant,,ENST00000509269,;TMCO6,downstream_gene_variant,,ENST00000513002,;TMCO6,downstream_gene_variant,,ENST00000514449,;NDUFA2,downstream_gene_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000394669,;	805-806	61	90	SUCCESS
PCDHA9	9752	.	GRCh37	5	140229700	140229700	+	synonymous_variant	Silent	SNP	G	G	A	rs782367888	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	62	0	ENST00000532602.1:c.1620G>A	p.Ala540=	p.A540=	ENST00000532602	NM_031857.1	540	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54920.1	1620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCGGGCGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000436042	.	1/4	.	.	.	.	.	.	.	.	rs782367888,COSM736182,COSM736181	1/4	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,synonymous_variant,p.%3D,ENST00000378122,;PCDHA9,synonymous_variant,p.%3D,ENST00000532602,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	2653	62	83	SUCCESS
PCDHGA3	56112	.	GRCh37	5	140725595	140725595	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	82	0	ENST00000253812.6:c.1995C>T	p.Ala665=	p.A665=	ENST00000253812	NM_018916.3	665	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47290.1	1995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCGACAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000253812	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000253812	Transcript	.	.	ENSG00000254245	8701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG3_HUMAN	PCDHGA3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000161C1A	SNV	PCDHGA3,synonymous_variant,p.%3D,ENST00000253812,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,upstream_gene_variant,,ENST00000523390,;PCDHGA2,downstream_gene_variant,,ENST00000528330,;	1995	82	87	SUCCESS
FAT2	2196	.	GRCh37	5	150923055	150923055	+	synonymous_variant	Silent	SNP	G	G	T	rs759347576	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	58	0	ENST00000261800.5:c.7633C>A	p.Arg2545=	p.R2545=	ENST00000261800	NM_001447.2	2545	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4317.1	7633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGATCCA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	9/23	.	.	.	.	.	.	.	.	rs759347576	9/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	7646	58	72	SUCCESS
PWWP2A	114825	.	GRCh37	5	159519506	159519506	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	4	64	0	ENST00000307063.7:c.2151G>T	p.Gln717His	p.Q717H	ENST00000307063	NM_001130864.1	717	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47332.1	2151	MUTECT|MUSE	.	CGTGACTGGAA	NONE	.	.	hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF4,Gene3D:2.30.30.160,Pfam_domain:PF00855,Superfamily_domains:SSF63748	.	.	ENSP00000305151	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307063	Transcript	.	.	ENSG00000170234	29406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PWP2A_HUMAN	PWWP2A	HGNC	.	.	UPI0000EE3692	SNV	PWWP2A,missense_variant,p.Gln717His,ENST00000307063,;PWWP2A,intron_variant,,ENST00000523662,;PWWP2A,intron_variant,,ENST00000456329,;PWWP2A,intron_variant,,ENST00000524050,;PWWP2A,intron_variant,,ENST00000521424,;PWWP2A,downstream_gene_variant,,ENST00000520662,;	2186	64	93	SUCCESS
C5orf45	0	.	GRCh37	5	179264710	179264714	+	frameshift_variant	Frame_Shift_Del	DEL	TTTCT	TTTCT	GTTC	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	TTTCT	TTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	83	0	ENST00000292586.6:c.709_713delinsGAAC	p.Arg237GlufsTer98	p.R237Efs*98	ENST00000292586	NM_016175.3	237	AGAAAa/GAACa	0	.	.	.	.	.	GTTC	RK/EX	protein_coding	YES	CCDS34319.1	709-713	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GAACTTTTTCTAGGTG	NONE	.	.	hmmpanther:PTHR15863:SF2,hmmpanther:PTHR15863	.	.	ENSP00000292586	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000292586	Transcript	.	.	ENSG00000161010	30817	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE045_HUMAN	C5orf45	HGNC	E5RJC6_HUMAN	.	UPI000020CD05	substitution	C5orf45,frameshift_variant,p.Arg237GlufsTer98,ENST00000292586,;C5orf45,frameshift_variant,p.Arg182GlufsTer98,ENST00000376931,;C5orf45,frameshift_variant,p.Arg103GlufsTer98,ENST00000523084,;SQSTM1,3_prime_UTR_variant,,ENST00000389805,;C5orf45,3_prime_UTR_variant,,ENST00000518219,;C5orf45,3_prime_UTR_variant,,ENST00000521333,;SQSTM1,3_prime_UTR_variant,,ENST00000376929,;C5orf45,intron_variant,,ENST00000520698,;C5orf45,intron_variant,,ENST00000403396,;C5orf45,intron_variant,,ENST00000518235,;SQSTM1,downstream_gene_variant,,ENST00000510187,;SQSTM1,downstream_gene_variant,,ENST00000402874,;SQSTM1,downstream_gene_variant,,ENST00000360718,;C5orf45,non_coding_transcript_exon_variant,,ENST00000523267,;C5orf45,3_prime_UTR_variant,,ENST00000521299,;C5orf45,intron_variant,,ENST00000522663,;C5orf45,intron_variant,,ENST00000518950,;C5orf45,downstream_gene_variant,,ENST00000521675,;C5orf45,downstream_gene_variant,,ENST00000520900,;C5orf45,downstream_gene_variant,,ENST00000520150,;C5orf45,downstream_gene_variant,,ENST00000523835,;SQSTM1,downstream_gene_variant,,ENST00000466342,;C5orf45,downstream_gene_variant,,ENST00000520995,;C5orf45,downstream_gene_variant,,ENST00000524068,;C5orf45,downstream_gene_variant,,ENST00000523737,;C5orf45,downstream_gene_variant,,ENST00000522157,;C5orf45,downstream_gene_variant,,ENST00000519208,;	800-804	83	94	SUCCESS
PDZD2	23037	.	GRCh37	5	31799600	31799600	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	56	99	0	ENST00000438447.1:c.245C>G	p.Thr82Ser	p.T82S	ENST00000438447		82	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS34137.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGACTGTGG	NONE	.	.	Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000402033	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	tolerated(0.13)	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,missense_variant,p.Thr82Ser,ENST00000438447,;PDZD2,missense_variant,p.Thr82Ser,ENST00000282493,;PDZD2,downstream_gene_variant,,ENST00000513910,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502824,;	633	99	139	SUCCESS
MAP3K4	4216	.	GRCh37	6	161455352	161455352	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	95	0	ENST00000392142.4:c.214T>A	p.Ser72Thr	p.S72T	ENST00000392142	NM_005922.2	72	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS34565.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTCCGAT	NONE	.	.	.	.	.	ENSP00000375986	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated_low_confidence(0.15)	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,missense_variant,p.Ser72Thr,ENST00000366920,;MAP3K4,missense_variant,p.Ser72Thr,ENST00000366919,;MAP3K4,missense_variant,p.Ser72Thr,ENST00000348824,;MAP3K4,missense_variant,p.Ser72Thr,ENST00000392142,;MAP3K4,5_prime_UTR_variant,,ENST00000448119,;MAP3K4,upstream_gene_variant,,ENST00000446500,;MAP3K4,missense_variant,p.Ser72Thr,ENST00000544041,;MAP3K4,missense_variant,p.Ser72Thr,ENST00000490904,;MAP3K4,intron_variant,,ENST00000542952,;	362	95	74	SUCCESS
OR2B3	442184	.	GRCh37	6	29054417	29054417	+	synonymous_variant	Silent	SNP	A	A	G	rs759833609	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	70	99	0	ENST00000377173.2:c.609T>C	p.Ser203=	p.S203=	ENST00000377173	NM_001005226.2	203	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS34358.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACACTAAA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF103,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366378	.	1/1	.	.	.	.	.	.	.	.	rs759833609	1/1	PASS	ENST00000377173	Transcript	.	.	ENSG00000204703	8238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2B3_HUMAN	OR2B3	HGNC	.	.	UPI0000041DB9	SNV	OR2B3,synonymous_variant,p.%3D,ENST00000377173,;	674	99	143	SUCCESS
MUT	0	.	GRCh37	6	49416564	49416564	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777398959	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	74	116	0	ENST00000274813.3:c.1409A>G	p.Glu470Gly	p.E470G	ENST00000274813	NM_000255.3	470	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4924.1	1409	RADIA|MUTECT|MUSE	.	CACATTCTTCA	NONE	.	.	hmmpanther:PTHR23408:SF1,hmmpanther:PTHR23408,Gene3D:3.20.20.240,TIGRFAM_domain:TIGR00641,Pfam_domain:PF01642,Superfamily_domains:SSF51703	.	.	ENSP00000274813	.	7/13	.	.	.	.	.	.	.	.	rs777398959	7/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,missense_variant,p.Glu470Gly,ENST00000274813,;	1537	116	171	SUCCESS
MUT	0	.	GRCh37	6	49416604	49416604	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	71	98	0	ENST00000274813.3:c.1369A>T	p.Lys457Ter	p.K457*	ENST00000274813	NM_000255.3	457	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4924.1	1369	RADIA|MUTECT|MUSE	.	AGCTTTGGCCA	NONE	.	.	hmmpanther:PTHR23408:SF1,hmmpanther:PTHR23408,Gene3D:3.20.20.240,TIGRFAM_domain:TIGR00641,Pfam_domain:PF01642,Superfamily_domains:SSF51703	.	.	ENSP00000274813	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,stop_gained,p.Lys457Ter,ENST00000274813,;	1497	98	159	SUCCESS
KHDRBS2	202559	.	GRCh37	6	62442656	62442656	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	30	86	0	ENST00000281156.4:c.824G>A	p.Gly275Asp	p.G275D	ENST00000281156	NM_152688.2	275	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS4963.1	824	RADIA|MUTECT|MUSE	.	CGTAGCCATCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34	.	.	ENSP00000281156	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000281156	Transcript	.	.	ENSG00000112232	18114	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	KHDR2_HUMAN	KHDRBS2	HGNC	.	.	UPI000004D256	SNV	KHDRBS2,missense_variant,p.Gly275Asp,ENST00000281156,;	1103	86	124	SUCCESS
ORC5	5001	.	GRCh37	7	103808951	103808951	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	41	25	0	ENST00000297431.4:c.847A>G	p.Lys283Glu	p.K283E	ENST00000297431	NM_002553.3	283	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS5734.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTTCTGTA	NONE	.	.	hmmpanther:PTHR12705,Pfam_domain:PF14630	.	.	ENSP00000297431	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000297431	Transcript	.	.	ENSG00000164815	8491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.73)	.	ORC5_HUMAN	ORC5	HGNC	Q9UDM8_HUMAN,Q8NDU9_HUMAN,B4DXT8_HUMAN,A4D0P7_HUMAN	.	UPI0000001C1C	SNV	ORC5,missense_variant,p.Lys283Glu,ENST00000297431,;ORC5,missense_variant,p.Lys151Glu,ENST00000545943,;ORC5,missense_variant,p.Lys283Glu,ENST00000447452,;ORC5,3_prime_UTR_variant,,ENST00000422497,;ORC5,upstream_gene_variant,,ENST00000477223,;	990	25	73	SUCCESS
ORC5	5001	.	GRCh37	7	103808952	103808952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	40	26	0	ENST00000297431.4:c.846G>T	p.Gln282His	p.Q282H	ENST00000297431	NM_002553.3	282	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5734.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCTGTAG	NONE	.	.	hmmpanther:PTHR12705,Pfam_domain:PF14630	.	.	ENSP00000297431	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000297431	Transcript	.	.	ENSG00000164815	8491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.01)	.	ORC5_HUMAN	ORC5	HGNC	Q9UDM8_HUMAN,Q8NDU9_HUMAN,B4DXT8_HUMAN,A4D0P7_HUMAN	.	UPI0000001C1C	SNV	ORC5,missense_variant,p.Gln282His,ENST00000297431,;ORC5,missense_variant,p.Gln150His,ENST00000545943,;ORC5,missense_variant,p.Gln282His,ENST00000447452,;ORC5,3_prime_UTR_variant,,ENST00000422497,;ORC5,upstream_gene_variant,,ENST00000477223,;	989	26	71	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113518118	113518118	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	74	48	0	ENST00000284601.3:c.3029C>A	p.Pro1010Gln	p.P1010Q	ENST00000284601	NM_002711.3	1010	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS5759.1	3029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTGGCCCT	NONE	.	.	.	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,missense_variant,p.Pro1010Gln,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	3098	48	121	SUCCESS
CHCHD3	54927	.	GRCh37	7	132766712	132766712	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	66	92	0	ENST00000262570.5:c.-15G>T		p.*5*	ENST00000262570	NM_017812.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5828.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCCCAG	NONE	.	.	.	.	.	ENSP00000262570	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000262570	Transcript	.	.	ENSG00000106554	21906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHCH3_HUMAN	CHCHD3	HGNC	A4D1N4_HUMAN	.	UPI0000044721	SNV	CHCHD3,5_prime_UTR_variant,,ENST00000542753,;CHCHD3,5_prime_UTR_variant,,ENST00000262570,;CHCHD3,5_prime_UTR_variant,,ENST00000448878,;U6,upstream_gene_variant,,ENST00000605893,;CHCHD3,non_coding_transcript_exon_variant,,ENST00000476546,;CHCHD3,5_prime_UTR_variant,,ENST00000457942,;CHCHD3,5_prime_UTR_variant,,ENST00000423635,;CHCHD3,non_coding_transcript_exon_variant,,ENST00000466644,;	131	92	128	SUCCESS
ESYT2	57488	.	GRCh37	7	158586392	158586392	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	29	27	0	ENST00000251527.5:c.677T>C	p.Val226Ala	p.V226A	ENST00000251527	NM_020728.2	226	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS34791.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATACCTTA	NONE	.	.	hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF6	.	.	ENSP00000251527	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000251527	Transcript	.	.	ENSG00000117868	22211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.65)	.	ESYT2_HUMAN	ESYT2	HGNC	.	.	UPI00002339BD	SNV	ESYT2,missense_variant,p.Val226Ala,ENST00000251527,;ESYT2,missense_variant,p.Val196Ala,ENST00000275418,;ESYT2,non_coding_transcript_exon_variant,,ENST00000497111,;ESYT2,non_coding_transcript_exon_variant,,ENST00000483958,;	743	27	54	SUCCESS
ABCB5	340273	.	GRCh37	7	20698136	20698136	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	23	38	0	ENST00000404938.2:c.1544A>G	p.Asn515Ser	p.N515S	ENST00000404938	NM_001163941.1	515	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS55090.1	1544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAATACAT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000384881	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	deleterious(0.04)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Asn70Ser,ENST00000443026,;ABCB5,missense_variant,p.Asn70Ser,ENST00000258738,;ABCB5,missense_variant,p.Asn515Ser,ENST00000404938,;ABCB5,missense_variant,p.Asn70Ser,ENST00000406935,;	2196	38	43	SUCCESS
HOXA7	3204	.	GRCh37	7	27195946	27195946	+	synonymous_variant	Silent	SNP	G	G	C	rs757685035	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	63	179	0	ENST00000242159.3:c.219C>G	p.Gly73=	p.G73=	ENST00000242159	NM_006896.3	73	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS5408.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCGCCCAG	NONE	byFrequency	.	hmmpanther:PTHR24326:SF163,hmmpanther:PTHR24326	.	.	ENSP00000242159	.	1/2	.	.	.	.	.	.	.	.	rs757685035,COSM3669727	1/2	PASS	ENST00000242159	Transcript	.	.	ENSG00000122592	5108	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HXA7_HUMAN	HOXA7	HGNC	E5RHM9_HUMAN	.	UPI000013CAF3	SNV	HOXA7,synonymous_variant,p.%3D,ENST00000242159,;HOXA7,downstream_gene_variant,,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;HOXA7,upstream_gene_variant,,ENST00000523796,;HOXA3,upstream_gene_variant,,ENST00000518451,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;	353	179	208	SUCCESS
DPY19L1	23333	.	GRCh37	7	35050137	35050137	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	472	245	443	1	ENST00000310974.4:c.488T>C	p.Ile163Thr	p.I163T	ENST00000310974	NM_015283.1	163	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS43567.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAATTACA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	.	.	ENSP00000308695	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000310974	Transcript	.	.	ENSG00000173852	22205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,missense_variant,p.Ile163Thr,ENST00000310974,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000481923,;	633	444	717	SUCCESS
SEMA3A	10371	.	GRCh37	7	83640603	83640603	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	50	80	0	ENST00000265362.4:c.821G>T	p.Gly274Val	p.G274V	ENST00000265362	NM_006080.2	274	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5599.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCCAAAG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	8/17	.	.	.	.	.	.	.	.	COSM1550487	8/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Gly274Val,ENST00000265362,;SEMA3A,missense_variant,p.Gly274Val,ENST00000436949,;	1136	80	109	SUCCESS
SEMA3A	10371	.	GRCh37	7	83640604	83640604	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	50	79	0	ENST00000265362.4:c.820G>T	p.Gly274Ter	p.G274*	ENST00000265362	NM_006080.2	274	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS5599.1	820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCAAAGT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,stop_gained,p.Gly274Ter,ENST00000265362,;SEMA3A,stop_gained,p.Gly274Ter,ENST00000436949,;	1135	79	109	SUCCESS
SAMD12	401474	.	GRCh37	8	119391802	119391802	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	18	74	0	ENST00000314727.4:c.460C>T	p.Gln154Ter	p.Q154*	ENST00000314727	NM_207506.2	154	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6325.1	460	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGTGTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20843:SF2,hmmpanther:PTHR20843	.	.	ENSP00000314173	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314727	Transcript	.	.	ENSG00000177570	31750	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SAM12_HUMAN	SAMD12	HGNC	E9PLP5_HUMAN	.	UPI000013F8F1	SNV	SAMD12,stop_gained,p.Gln154Ter,ENST00000314727,;SAMD12,stop_gained,p.Gln141Ter,ENST00000453675,;SAMD12,stop_gained,p.Gln146Ter,ENST00000524796,;SAMD12,stop_gained,p.Gln154Ter,ENST00000409003,;SAMD12,stop_gained,p.Gln169Ter,ENST00000526765,;SAMD12,stop_gained,p.Gln154Ter,ENST00000526328,;SAMD12,non_coding_transcript_exon_variant,,ENST00000527515,;AC023590.1,intron_variant,,ENST00000430457,;SAMD12,3_prime_UTR_variant,,ENST00000445741,;	597	74	135	SUCCESS
ADCY8	114	.	GRCh37	8	131896827	131896827	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	44	0	ENST00000286355.5:c.2092T>C	p.Ser698Pro	p.S698P	ENST00000286355	NM_001115.2	698	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS6363.1	2092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGAGTCTT	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Pfam_domain:PF06327	.	.	ENSP00000286355	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.42)	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Ser698Pro,ENST00000286355,;ADCY8,missense_variant,p.Ser698Pro,ENST00000377928,;	4185	44	52	SUCCESS
SCRIB	23513	.	GRCh37	8	144873352	144873352	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	48	78	1	ENST00000320476.3:c.4874T>C	p.Leu1625Pro	p.L1625P	ENST00000320476	NM_015356.4	1625	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6412.1	4949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCAGGCCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000349486	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Leu1544Pro,ENST00000377533,;SCRIB,missense_variant,p.Leu645Pro,ENST00000526832,;SCRIB,missense_variant,p.Leu1650Pro,ENST00000356994,;SCRIB,missense_variant,p.Leu1625Pro,ENST00000320476,;RP11-429J17.8,downstream_gene_variant,,ENST00000532625,;RP11-429J17.8,downstream_gene_variant,,ENST00000534089,;RP11-429J17.8,downstream_gene_variant,,ENST00000527139,;SCRIB,downstream_gene_variant,,ENST00000546337,;SCRIB,non_coding_transcript_exon_variant,,ENST00000531163,;SCRIB,non_coding_transcript_exon_variant,,ENST00000525051,;	4956	79	123	SUCCESS
SCRIB	23513	.	GRCh37	8	144875222	144875222	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1159063077	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	63	0	ENST00000320476.3:c.3941C>T	p.Pro1314Leu	p.P1314L	ENST00000320476	NM_015356.4	1314	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6412.1	3941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGGCAGC	NONE	.	.	.	.	.	ENSP00000349486	.	29/37	.	.	.	.	.	.	.	.	.	29/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Pro1233Leu,ENST00000377533,;SCRIB,missense_variant,p.Pro310Leu,ENST00000526832,;SCRIB,missense_variant,p.Pro1314Leu,ENST00000356994,;SCRIB,missense_variant,p.Pro1314Leu,ENST00000320476,;RP11-429J17.8,downstream_gene_variant,,ENST00000532625,;RP11-429J17.8,downstream_gene_variant,,ENST00000534089,;RP11-429J17.8,downstream_gene_variant,,ENST00000527139,;SCRIB,non_coding_transcript_exon_variant,,ENST00000546337,;SCRIB,non_coding_transcript_exon_variant,,ENST00000525051,;SCRIB,upstream_gene_variant,,ENST00000531163,;	3948	63	85	SUCCESS
MBOAT4	619373	.	GRCh37	8	29989500	29989500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	70	148	0	ENST00000320542.3:c.1267C>A	p.Leu423Met	p.L423M	ENST00000320542	NM_001100916.1	423	Ctg/Atg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47834.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGAATAC	NONE	.	.	.	.	.	ENSP00000428281	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000523116	Transcript	.	.	ENSG00000104660	6555	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LERL1_HUMAN	LEPROTL1	HGNC	.	.	UPI000020FF8F	SNV	LEPROTL1,missense_variant,p.Gln96His,ENST00000520682,;MBOAT4,missense_variant,p.Leu423Met,ENST00000320542,;LEPROTL1,intron_variant,,ENST00000523116,;LEPROTL1,intron_variant,,ENST00000442880,;LEPROTL1,intron_variant,,ENST00000520739,;	.	148	197	SUCCESS
FGFR1	2260	.	GRCh37	8	38273520	38273520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	35	0	ENST00000425967.3:c.1815G>T	p.Gln605His	p.Q605H	ENST00000425967	NM_001174067.1	605	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS55223.1	1815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCTGCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000393312	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000425967	Transcript	1	.	ENSG00000077782	3688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	deleterious(0)	.	FGFR1_HUMAN	FGFR1	HGNC	E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN	.	UPI0001CE06A3	SNV	FGFR1,missense_variant,p.Gln483His,ENST00000326324,;FGFR1,missense_variant,p.Gln572His,ENST00000532791,;FGFR1,missense_variant,p.Gln485His,ENST00000397103,;FGFR1,missense_variant,p.Gln574His,ENST00000447712,;FGFR1,missense_variant,p.Gln574His,ENST00000341462,;FGFR1,missense_variant,p.Gln485His,ENST00000356207,;FGFR1,missense_variant,p.Gln605His,ENST00000425967,;FGFR1,missense_variant,p.Gln572His,ENST00000397113,;FGFR1,missense_variant,p.Gln564His,ENST00000335922,;FGFR1,missense_variant,p.Gln572His,ENST00000397091,;FGFR1,missense_variant,p.Gln572His,ENST00000397108,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,upstream_gene_variant,,ENST00000531196,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000524528,;	2138	35	45	SUCCESS
CHMP4C	92421	.	GRCh37	8	82644774	82644774	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	46	70	0	ENST00000297265.4:c.-88G>T		p.*30*	ENST00000297265	NM_152284.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6233.1	.	RADIA|MUTECT|MUSE	.	GAGAGGACTGC	NONE	.	.	.	.	.	ENSP00000297265	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000297265	Transcript	.	.	ENSG00000164695	30599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHM4C_HUMAN	CHMP4C	HGNC	.	.	UPI000005032A	SNV	CHMP4C,5_prime_UTR_variant,,ENST00000297265,;ZFAND1,intron_variant,,ENST00000523361,;ZFAND1,upstream_gene_variant,,ENST00000520635,;ZFAND1,upstream_gene_variant,,ENST00000521742,;ZFAND1,upstream_gene_variant,,ENST00000520604,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000520941,;ZFAND1,intron_variant,,ENST00000517353,;ZFAND1,upstream_gene_variant,,ENST00000521885,;	106	70	89	SUCCESS
TMEM245	23731	.	GRCh37	9	111855825	111855825	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	55	101	0	ENST00000374586.3:c.846G>C	p.Leu282=	p.L282=	ENST00000374586	NM_032012.3	282	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43858.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCAGAGT	NONE	.	.	hmmpanther:PTHR21716,hmmpanther:PTHR21716:SF1	.	.	ENSP00000363714	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000374586	Transcript	.	.	ENSG00000106771	1363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM245_HUMAN	TMEM245	HGNC	.	.	UPI000013C833	SNV	TMEM245,synonymous_variant,p.%3D,ENST00000374586,;TMEM245,synonymous_variant,p.%3D,ENST00000491854,;	878	102	108	SUCCESS
TRIM32	22954	.	GRCh37	9	119461915	119461915	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	69	0	ENST00000373983.2:c.1894G>T	p.Val632Phe	p.V632F	ENST00000373983		632	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS6817.1	1894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGTCTTG	NONE	.	.	PROSITE_profiles:PS51125,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308,Gene3D:2.120.10.30,Pfam_domain:PF01436,Superfamily_domains:SSF101898	.	.	ENSP00000408292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000450136	Transcript	.	.	ENSG00000119401	16380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRI32_HUMAN	TRIM32	HGNC	Q5JVY0_HUMAN	.	UPI000012CDB9	SNV	TRIM32,missense_variant,p.Val632Phe,ENST00000373983,;TRIM32,missense_variant,p.Val632Phe,ENST00000450136,;ASTN2,intron_variant,,ENST00000373996,;ASTN2,intron_variant,,ENST00000373986,;ASTN2,intron_variant,,ENST00000361209,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000361477,;TRIM32,downstream_gene_variant,,ENST00000411410,;	2055	69	91	SUCCESS
SMARCA2	6595	.	GRCh37	9	2123796	2123796	+	synonymous_variant	Silent	SNP	G	G	A	rs764977538	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	80	0	ENST00000349721.2:c.3840G>A	p.Leu1280=	p.L1280=	ENST00000349721	NM_003070.3	1280	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34977.1	3840	MUTECT|MUSE	.	GAGCTGCCCTC	NONE	.	.	hmmpanther:PTHR10799:SF541,hmmpanther:PTHR10799,Pfam_domain:PF14619	.	.	ENSP00000371638	.	27/34	.	.	.	.	.	.	.	.	rs764977538	27/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,synonymous_variant,p.%3D,ENST00000382194,;SMARCA2,synonymous_variant,p.%3D,ENST00000382203,;SMARCA2,synonymous_variant,p.%3D,ENST00000357248,;SMARCA2,synonymous_variant,p.%3D,ENST00000349721,;	4049	80	100	SUCCESS
FAM205B	0	.	GRCh37	9	34837661	34837661	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	53	53	0	ENST00000399773.6:n.180A>T		p.*60*	ENST00000399773				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTGCATC	NONE	.	.	.	.	.	.	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	180	53	100	SUCCESS
SPAG8	26206	.	GRCh37	9	35811575	35811575	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	59	0	ENST00000475644.1:c.468C>T	p.Gly156=	p.G156=	ENST00000475644		156	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6592.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGCCATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15510	.	.	ENSP00000340982	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000340291	Transcript	.	.	ENSG00000137098	14105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAG8_HUMAN	SPAG8	HGNC	F8WBP3_HUMAN	.	UPI000013E78B	SNV	SPAG8,synonymous_variant,p.%3D,ENST00000497810,;SPAG8,synonymous_variant,p.%3D,ENST00000340291,;SPAG8,synonymous_variant,p.%3D,ENST00000484764,;SPAG8,synonymous_variant,p.%3D,ENST00000396638,;HINT2,downstream_gene_variant,,ENST00000259667,;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000447210,;NPR2,downstream_gene_variant,,ENST00000421267,;NPR2,downstream_gene_variant,,ENST00000342694,;AL133410.1,upstream_gene_variant,,ENST00000582432,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,upstream_gene_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000461169,;SPAG8,synonymous_variant,p.%3D,ENST00000475644,;SPAG8,intron_variant,,ENST00000471631,;SPAG8,intron_variant,,ENST00000495667,;SPAG8,intron_variant,,ENST00000472605,;SPAG8,upstream_gene_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000448821,;FAM221B,downstream_gene_variant,,ENST00000388950,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000469249,;	593	59	61	SUCCESS
FAM120A	23196	.	GRCh37	9	96278439	96278439	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs771125668	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	344	165	296	0	ENST00000277165.6:c.1308del	p.Ile437SerfsTer79	p.I437Sfs*79	ENST00000277165	NM_014612.3	436	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS6706.1	1306	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTCGCCCATC	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14	.	.	ENSP00000277165	.	7/18	.	.	.	.	.	.	.	.	rs771125668	7/18	PASS	ENST00000277165	Transcript	.	.	ENSG00000048828	13247	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F120A_HUMAN	FAM120A	HGNC	.	.	UPI0000211A83	deletion	FAM120A,frameshift_variant,p.Ile437SerfsTer79,ENST00000375389,;FAM120A,frameshift_variant,p.Ile437SerfsTer79,ENST00000340893,;FAM120A,frameshift_variant,p.Ile281SerfsTer79,ENST00000446420,;FAM120A,frameshift_variant,p.Ile437SerfsTer62,ENST00000333936,;FAM120A,frameshift_variant,p.Ile437SerfsTer79,ENST00000277165,;	1500	296	509	SUCCESS
DOCK11	139818	.	GRCh37	X	117676789	117676789	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	146	130	0	ENST00000276202.7:c.204A>G	p.Pro68=	p.P68=	ENST00000276202	NM_144658.3	68	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS35373.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAATGGA	NONE	.	.	hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317,Pfam_domain:PF11878	.	.	ENSP00000276202	.	2/53	.	.	.	.	.	.	.	.	.	2/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,synonymous_variant,p.%3D,ENST00000276204,;DOCK11,synonymous_variant,p.%3D,ENST00000276202,;	267	130	189	SUCCESS
GABRQ	55879	.	GRCh37	X	151818238	151818238	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	46	40	0	ENST00000370306.2:c.644G>C	p.Trp215Ser	p.W215S	ENST00000370306	NM_018558.3	215	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS14707.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGGGATG	NONE	.	.	Superfamily_domains:0038932,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	.	.	ENSP00000359329	.	6/9	.	.	.	.	.	.	.	.	COSM1556685	6/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,missense_variant,p.Trp215Ser,ENST00000370306,;	664	40	54	SUCCESS
TMEM187	8269	.	GRCh37	X	153247505	153247505	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs200196882	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	40	56	0	ENST00000369982.4:c.-9C>T		p.*3*	ENST00000369982	NM_003492.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS14739.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGGTTC	NONE	byCluster|by1000G	.	.	T:0.001	.	ENSP00000358999	T:0	2/2	.	.	.	.	.	.	.	.	rs200196882	2/2	PASS	ENST00000369982	Transcript	.	T:0.0003	ENSG00000177854	13705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TM187_HUMAN	TMEM187	HGNC	C9JV55_HUMAN,C9JIP7_HUMAN	.	UPI000012D0DC	SNV	TMEM187,5_prime_UTR_variant,,ENST00000425274,;TMEM187,5_prime_UTR_variant,,ENST00000431598,;TMEM187,5_prime_UTR_variant,,ENST00000369982,;MIR3202-1,downstream_gene_variant,,ENST00000580198,;	739	56	50	SUCCESS
CXCR3	2833	.	GRCh37	X	70837372	70837372	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	56	39	0	ENST00000373693.3:c.13-63A>G		p.*5*	ENST00000373693	NM_001504.1	31		0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS48135.1	91	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGATTGAGT	NONE	.	.	.	.	.	ENSP00000362795	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373691	Transcript	.	.	ENSG00000186810	4540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	CXCR3_HUMAN	CXCR3	HGNC	.	.	UPI00001A92CE	SNV	CXCR3,missense_variant,p.Ile31Val,ENST00000373691,;CXCR3,intron_variant,,ENST00000373693,;ACRC,downstream_gene_variant,,ENST00000373695,;ACRC,downstream_gene_variant,,ENST00000373696,;ACRC,downstream_gene_variant,,ENST00000471950,;	255	39	76	SUCCESS
ZDHHC15	158866	.	GRCh37	X	74725668	74725668	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	88	91	1	ENST00000373367.3:c.151C>A	p.Pro51Thr	p.P51T	ENST00000373367	NM_144969.2	51	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14430.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGCTCA	NONE	.	.	hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF6	.	.	ENSP00000362465	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000373367	Transcript	.	.	ENSG00000102383	20342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.47)	.	ZDH15_HUMAN	ZDHHC15	HGNC	.	.	UPI000006DB5A	SNV	ZDHHC15,missense_variant,p.Pro51Thr,ENST00000373361,;ZDHHC15,missense_variant,p.Pro51Thr,ENST00000373367,;ZDHHC15,intron_variant,,ENST00000541184,;ZDHHC15,intron_variant,,ENST00000482827,;	382	93	108	SUCCESS
ZNF711	7552	.	GRCh37	X	84526085	84526085	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs866850423	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	97	89	0	ENST00000276123.3:c.1537G>T	p.Gly513Cys	p.G513C	ENST00000276123		513	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS35344.1	1537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGGTTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF1,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000362260	.	9/9	.	.	.	.	.	.	.	.	COSM3406638,COSM3406637	9/9	PASS	ENST00000373165	Transcript	.	.	ENSG00000147180	13128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	ZN711_HUMAN	ZNF711	HGNC	B4DS73_HUMAN	.	UPI0000212114	SNV	ZNF711,missense_variant,p.Gly513Cys,ENST00000276123,;ZNF711,missense_variant,p.Gly355Cys,ENST00000542798,;ZNF711,missense_variant,p.Gly513Cys,ENST00000373165,;ZNF711,missense_variant,p.Gly559Cys,ENST00000360700,;ZNF711,missense_variant,p.Gly521Cys,ENST00000395402,;	1843	89	109	SUCCESS
LDB1	8861	.	GRCh37	10	103870846	103870846	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762616778	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	79	0	ENST00000425280.1:c.229C>T	p.Arg77Trp	p.R77W	ENST00000425280	NM_001113407.1	77	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44472.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCGTTTGT	NONE	.	.	hmmpanther:PTHR10378:SF7,hmmpanther:PTHR10378,Pfam_domain:PF01803	.	.	ENSP00000392466	.	4/11	.	.	.	.	.	.	.	.	rs762616778	4/11	PASS	ENST00000425280	Transcript	.	.	ENSG00000198728	6532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	LDB1_HUMAN	LDB1	HGNC	.	.	UPI00001F95EA	SNV	LDB1,missense_variant,p.Arg77Trp,ENST00000425280,;LDB1,missense_variant,p.Arg41Trp,ENST00000361198,;LDB1,non_coding_transcript_exon_variant,,ENST00000461873,;LDB1,non_coding_transcript_exon_variant,,ENST00000490751,;	572	79	52	SUCCESS
CCDC172	374355	.	GRCh37	10	118084530	118084530	+	synonymous_variant	Silent	SNP	T	T	C	rs762316761	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	69	0	ENST00000333254.3:c.7T>C	p.Leu3=	p.L3=	ENST00000333254	NM_198515.2	3	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31291.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCTTGGAG	NONE	.	.	hmmpanther:PTHR22419,hmmpanther:PTHR22419:SF2	.	.	ENSP00000329860	.	2/9	.	.	.	.	.	.	.	.	rs762316761,COSM1246376	2/9	PASS	ENST00000333254	Transcript	.	.	ENSG00000182645	30524	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CC172_HUMAN	CCDC172	HGNC	.	.	UPI000000DAB5	SNV	CCDC172,synonymous_variant,p.%3D,ENST00000333254,;CCDC172,non_coding_transcript_exon_variant,,ENST00000497093,;	258	69	42	SUCCESS
MKI67	4288	.	GRCh37	10	129904808	129904808	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	10	117	0	ENST00000368654.3:c.5296G>T	p.Glu1766Ter	p.E1766*	ENST00000368654	NM_002417.4	1766	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7659.1	5296	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTTCAG	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,stop_gained,p.Glu1766Ter,ENST00000368654,;MKI67,stop_gained,p.Glu1406Ter,ENST00000368653,;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,;	5672	117	82	SUCCESS
ASAH2	56624	.	GRCh37	10	52005122	52005122	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	44	135	0	ENST00000395526.4:c.220A>T	p.Thr74Ser	p.T74S	ENST00000395526	NM_019893.2	74	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7239.2	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGTGGAAT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000378897	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000395526	Transcript	.	.	ENSG00000188611	18860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	ASAH2_HUMAN	ASAH2	HGNC	.	.	UPI00004042A7	SNV	ASAH2,missense_variant,p.Thr55Ser,ENST00000329428,;ASAH2,missense_variant,p.Thr74Ser,ENST00000447815,;ASAH2,missense_variant,p.Thr74Ser,ENST00000395526,;ASAH2,upstream_gene_variant,,ENST00000443575,;	220	135	132	SUCCESS
KIN	22944	.	GRCh37	10	7822135	7822135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	50	167	0	ENST00000379562.4:c.260A>G	p.Lys87Arg	p.K87R	ENST00000379562	NM_012311.3	87	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS7080.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTTAGTG	NONE	.	.	hmmpanther:PTHR12805,Pfam_domain:PF10357	.	.	ENSP00000368881	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000379562	Transcript	.	.	ENSG00000151657	6327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.16)	.	KIN17_HUMAN	KIN	HGNC	.	.	UPI00000315C2	SNV	KIN,missense_variant,p.Lys87Arg,ENST00000379562,;KIN,missense_variant,p.Lys87Arg,ENST00000535925,;KIN,5_prime_UTR_variant,,ENST00000543003,;	308	167	165	SUCCESS
DDI1	414301	.	GRCh37	11	103908514	103908514	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	36	112	0	ENST00000302259.3:c.964G>A	p.Glu322Lys	p.E322K	ENST00000302259	NM_001001711.2	322	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31660.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTGAGGAT	NONE	.	.	hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Pfam_domain:PF09668,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	deleterious(0.05)	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,missense_variant,p.Glu322Lys,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1207	112	116	SUCCESS
MUC2	4583	.	GRCh37	11	1081111	1081111	+	synonymous_variant	Silent	SNP	C	C	T	rs746178862	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	56	160	0	ENST00000441003.2:c.1407C>T	p.Asn469=	p.N469=	ENST00000441003	NM_002457.2	469	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	.	1407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAACGAGCT	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000415183	.	11/49	.	.	.	.	.	.	.	.	rs746178862	11/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,synonymous_variant,p.%3D,ENST00000359061,;	1434	160	174	SUCCESS
C11orf63	0	.	GRCh37	11	122774672	122774672	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	16	141	0	ENST00000227349.2:c.384T>C	p.Tyr128=	p.Y128=	ENST00000227349	NM_024806.3	128	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS8438.1	384	MUTECT|MUSE|VARSCANS	.	CGCTATGACCC	NONE	.	.	hmmpanther:PTHR14726	.	.	ENSP00000227349	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000227349	Transcript	.	.	ENSG00000109944	26288	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CK063_HUMAN	C11orf63	HGNC	.	.	UPI00001FA5AB	SNV	C11orf63,synonymous_variant,p.%3D,ENST00000531316,;C11orf63,synonymous_variant,p.%3D,ENST00000227349,;C11orf63,synonymous_variant,p.%3D,ENST00000307257,;	681	141	149	SUCCESS
C11orf63	0	.	GRCh37	11	122805414	122805414	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs201888967	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	66	158	0	ENST00000227349.2:c.1265A>G	p.Asn422Ser	p.N422S	ENST00000227349	NM_024806.3	422	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8438.1	1265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAATGATG	NONE	byCluster	.	hmmpanther:PTHR14726	.	.	ENSP00000227349	.	5/9	.	.	.	.	.	.	.	.	rs201888967	5/9	PASS	ENST00000227349	Transcript	.	.	ENSG00000109944	26288	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.19)	.	CK063_HUMAN	C11orf63	HGNC	.	.	UPI00001FA5AB	SNV	C11orf63,missense_variant,p.Asn422Ser,ENST00000531316,;C11orf63,missense_variant,p.Asn422Ser,ENST00000227349,;C11orf63,upstream_gene_variant,,ENST00000534362,;	1562	158	181	SUCCESS
SOX6	55553	.	GRCh37	11	16205478	16205478	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	92	0	ENST00000528429.1:c.731T>C	p.Leu244Pro	p.L244P	ENST00000528429	NM_001145819.1	244	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS7821.1	731	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAGTTGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89	.	.	ENSP00000379644	.	6/16	.	.	.	.	.	.	.	.	COSM1579381,COSM1579382	6/16	PASS	ENST00000396356	Transcript	.	.	ENSG00000110693	16421	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.894)	.	deleterious(0)	1,1	SOX6_HUMAN	SOX6	HGNC	E9PQL4_HUMAN,E9PQ67_HUMAN,E9PN02_HUMAN	.	UPI00001F9DE4	SNV	SOX6,missense_variant,p.Leu247Pro,ENST00000527619,;SOX6,missense_variant,p.Leu244Pro,ENST00000528429,;SOX6,missense_variant,p.Leu244Pro,ENST00000528252,;SOX6,missense_variant,p.Leu244Pro,ENST00000352083,;SOX6,missense_variant,p.Leu244Pro,ENST00000396356,;SOX6,missense_variant,p.Leu244Pro,ENST00000316399,;SOX6,downstream_gene_variant,,ENST00000531297,;	809	92	68	SUCCESS
MRGPRX2	117194	.	GRCh37	11	19077740	19077740	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs757306575	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	17	159	0	ENST00000329773.2:c.210C>G	p.Ser70Arg	p.S70R	ENST00000329773	NM_054030.2	70	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS7847.1	210	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCTGAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF25,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR02108	.	.	ENSP00000333800	.	2/2	.	.	.	.	.	.	.	.	rs757306575	2/2	PASS	ENST00000329773	Transcript	.	.	ENSG00000183695	17983	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.216)	.	deleterious(0)	.	MRGX2_HUMAN	MRGPRX2	HGNC	.	.	UPI0000038C81	SNV	MRGPRX2,missense_variant,p.Ser70Arg,ENST00000329773,;	298	159	151	SUCCESS
CDKN1C	1028	.	GRCh37	11	2906165	2906165	+	synonymous_variant	Silent	SNP	A	A	G	rs191294997	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	8	0	ENST00000414822.3:c.555T>C	p.Ala185=	p.A185=	ENST00000414822	NM_000076.2	185	gcT/gcC	0	.	G:0.3495	.	G:0.2651	.	G	A	protein_coding	YES	CCDS7738.1	555	MUTECT|MUSE	.	GCCGGAGCCGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10265:SF7,hmmpanther:PTHR10265	G:0.1468	.	ENSP00000413720	G:0.2078	1/3	.	.	.	.	.	.	.	.	rs191294997	1/3	PASS	ENST00000414822	Transcript	.	G:0.2224	ENSG00000129757	1786	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	G:0.1135	.	.	CDN1C_HUMAN	CDKN1C	HGNC	.	.	UPI0000127442	SNV	CDKN1C,synonymous_variant,p.%3D,ENST00000440480,;CDKN1C,synonymous_variant,p.%3D,ENST00000414822,;CDKN1C,synonymous_variant,p.%3D,ENST00000430149,;CDKN1C,synonymous_variant,p.%3D,ENST00000313407,;CDKN1C,intron_variant,,ENST00000380725,;SLC22A18AS,downstream_gene_variant,,ENST00000533594,;SLC22A18AS,downstream_gene_variant,,ENST00000526203,;SLC22A18AS,downstream_gene_variant,,ENST00000455942,;CDKN1C,upstream_gene_variant,,ENST00000471157,;	947	8	8	SUCCESS
OR5AR1	219493	.	GRCh37	11	56431491	56431491	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	96	0	ENST00000302969.2:c.330T>A	p.Ala110=	p.A110=	ENST00000302969	NM_001004730.1	110	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31535.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTGAGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF54,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302639	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302969	Transcript	.	.	ENSG00000172459	15260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O5AR1_HUMAN	OR5AR1	HGNC	B9EIN0_HUMAN	.	UPI0000041C93	SNV	OR5AR1,synonymous_variant,p.%3D,ENST00000302969,;	354	96	85	SUCCESS
TMEM132A	54972	.	GRCh37	11	60703453	60703453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	40	0	ENST00000453848.2:c.2146C>A	p.Pro716Thr	p.P716T	ENST00000453848		716	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS7997.1	2149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCCAGCT	NONE	.	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388	.	.	ENSP00000005286	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	tolerated(0.32)	.	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,missense_variant,p.Pro717Thr,ENST00000005286,;TMEM132A,missense_variant,p.Pro716Thr,ENST00000453848,;TMEM132A,missense_variant,p.Pro82Thr,ENST00000535480,;TMEM132A,3_prime_UTR_variant,,ENST00000540112,;SLC15A3,downstream_gene_variant,,ENST00000227880,;TMEM132A,downstream_gene_variant,,ENST00000536409,;SLC15A3,downstream_gene_variant,,ENST00000537307,;SLC15A3,downstream_gene_variant,,ENST00000536784,;TMEM132A,downstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000536928,;TMEM132A,downstream_gene_variant,,ENST00000538090,;TMEM132A,downstream_gene_variant,,ENST00000544098,;SLC15A3,downstream_gene_variant,,ENST00000544101,;SLC15A3,downstream_gene_variant,,ENST00000543406,;SLC15A3,downstream_gene_variant,,ENST00000541505,;TMEM132A,downstream_gene_variant,,ENST00000534983,;	2302	40	43	SUCCESS
PPP1CA	5499	.	GRCh37	11	67166088	67166097	+	frameshift_variant	Frame_Shift_Del	DEL	CCCTTGTTCT	CCCTTGTTCT	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	CCCTTGTTCT	CCCTTGTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	82	14	93	0	ENST00000376745.4:c.902_911del	p.Lys301ArgfsTer9	p.K301Rfs*9	ENST00000376745	NM_001008709.1	301	aAGAACAAGGGg/ag	0	.	.	.	.	.	-	KNKG/X	protein_coding	YES	CCDS31618.1	935-944	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTTCCCCTTGTTCTTGTCG	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207,Gene3D:3.60.21.10,Superfamily_domains:SSF56300	.	.	ENSP00000326031	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000312989	Transcript	.	.	ENSG00000172531	9281	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PP1A_HUMAN	PPP1CA	HGNC	C4TNW6_HUMAN,C4TNW5_HUMAN,C0STL0_HUMAN	.	UPI0000070A42	deletion	PPP1CA,frameshift_variant,p.Lys257ArgfsTer9,ENST00000358239,;PPP1CA,frameshift_variant,p.Lys301ArgfsTer9,ENST00000376745,;PPP1CA,frameshift_variant,p.Lys312ArgfsTer9,ENST00000312989,;PPP1CA,downstream_gene_variant,,ENST00000542876,;RAD9A,downstream_gene_variant,,ENST00000544620,;PPP1CA,downstream_gene_variant,,ENST00000546202,;RAD9A,downstream_gene_variant,,ENST00000307980,;PPP1CA,downstream_gene_variant,,ENST00000527663,;RNU6-1238P,upstream_gene_variant,,ENST00000517215,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532279,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532446,;PPP1CA,downstream_gene_variant,,ENST00000537694,;RAD9A,downstream_gene_variant,,ENST00000529100,;RAD9A,downstream_gene_variant,,ENST00000535644,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,downstream_gene_variant,,ENST00000529724,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000526510,;RAD9A,downstream_gene_variant,,ENST00000530934,;RAD9A,downstream_gene_variant,,ENST00000538013,;RAD9A,downstream_gene_variant,,ENST00000542139,;RAD9A,downstream_gene_variant,,ENST00000541132,;	946-955	93	96	SUCCESS
ZNF215	7762	.	GRCh37	11	6953723	6953723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	40	158	0	ENST00000278319.5:c.220C>A	p.Leu74Ile	p.L74I	ENST00000278319	NM_013250.2	74	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS7775.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCTTCAA	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000278319	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000278319	Transcript	.	.	ENSG00000149054	13007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious(0.05)	.	ZN215_HUMAN	ZNF215	HGNC	.	.	UPI000013DB6D	SNV	ZNF215,missense_variant,p.Leu74Ile,ENST00000414517,;ZNF215,missense_variant,p.Leu74Ile,ENST00000278319,;ZNF215,missense_variant,p.Leu74Ile,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000529755,;ZNF215,non_coding_transcript_exon_variant,,ENST00000527171,;	808	158	162	SUCCESS
LRTOMT	220074	.	GRCh37	11	71806376	71806376	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	87	0	ENST00000289488.2:c.438-49A>G		p.*146*	ENST00000289488	NM_001271471.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44668.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAAGGGGA	NONE	.	.	.	.	.	ENSP00000409789	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,3_prime_UTR_variant,,ENST00000324866,;LRTOMT,intron_variant,,ENST00000440313,;LRTOMT,intron_variant,,ENST00000539271,;LRTOMT,intron_variant,,ENST00000289488,;LRTOMT,intron_variant,,ENST00000538478,;LRTOMT,intron_variant,,ENST00000439209,;LRTOMT,intron_variant,,ENST00000435085,;LRTOMT,intron_variant,,ENST00000541614,;LRTOMT,intron_variant,,ENST00000307198,;LRTOMT,intron_variant,,ENST00000447974,;LAMTOR1,intron_variant,,ENST00000545249,;LRTOMT,intron_variant,,ENST00000419228,;LRTOMT,intron_variant,,ENST00000423494,;LRTOMT,intron_variant,,ENST00000539587,;LAMTOR1,intron_variant,,ENST00000535107,;LAMTOR1,downstream_gene_variant,,ENST00000278671,;LRTOMT,downstream_gene_variant,,ENST00000538413,;LRTOMT,downstream_gene_variant,,ENST00000542846,;LAMTOR1,downstream_gene_variant,,ENST00000544594,;LRTOMT,downstream_gene_variant,,ENST00000536917,;LAMTOR1,downstream_gene_variant,,ENST00000538404,;LAMTOR1,downstream_gene_variant,,ENST00000539797,;LRTOMT,intron_variant,,ENST00000544409,;LRTOMT,intron_variant,,ENST00000427369,;LRTOMT,intron_variant,,ENST00000535883,;LAMTOR1,downstream_gene_variant,,ENST00000535872,;LRTOMT,downstream_gene_variant,,ENST00000412777,;LAMTOR1,downstream_gene_variant,,ENST00000541403,;	.	87	91	SUCCESS
FOLH1B	219595	.	GRCh37	11	89413797	89413797	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs762288383	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	773	105	829	1	ENST00000525540.1:n.995G>A		p.*332*	ENST00000525540				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTGATTGT	BUFFER|p.P160P|c.480A>G|4	.	.	.	.	.	.	.	8/14	.	.	.	.	.	.	.	.	rs762288383	8/14	PASS	ENST00000525540	Transcript	.	.	ENSG00000134612	13636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FOLH1B	HGNC	.	.	.	SNV	FOLH1B,non_coding_transcript_exon_variant,,ENST00000526379,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000531315,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000525540,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000532352,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000529567,;	995	831	878	SUCCESS
TRIM49C	642612	.	GRCh37	11	89774410	89774410	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	108	0	ENST00000448984.1:c.1051T>A	p.Trp351Arg	p.W351R	ENST00000448984	NM_001195234.1	351	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS53694.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTGGAAT	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF268,PROSITE_profiles:PS50188	.	.	ENSP00000388299	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000448984	Transcript	.	.	ENSG00000204449	38877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious(0.03)	.	TR49C_HUMAN	TRIM49C	HGNC	.	.	UPI000013EA2B	SNV	TRIM49C,missense_variant,p.Trp351Arg,ENST00000448984,;TRIM49C,intron_variant,,ENST00000432771,;	1380	108	99	SUCCESS
CIT	11113	.	GRCh37	12	120222072	120222072	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	46	0	ENST00000261833.7:c.1402-217G>C		p.*468*	ENST00000261833	NM_007174.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55891.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCCGGT	NONE	.	.	.	.	.	ENSP00000376306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	MODIFIER	11/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,intron_variant,,ENST00000392520,;CIT,intron_variant,,ENST00000261833,;CIT,intron_variant,,ENST00000536325,;CIT,intron_variant,,ENST00000392521,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,downstream_gene_variant,,ENST00000539413,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,intron_variant,,ENST00000488203,;	.	46	60	SUCCESS
PPFIBP1	8496	.	GRCh37	12	27832561	27832561	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	19	244	1	ENST00000318304.8:c.1773A>G	p.Lys591=	p.K591=	ENST00000318304	NM_177444.2	591	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS55812.1	1773	RADIA|VARSCANS	.	ATGAAACTCTT	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16	.	.	ENSP00000314724	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000318304	Transcript	.	.	ENSG00000110841	9249	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPB1_HUMAN	PPFIBP1	HGNC	F5H6Q7_HUMAN	.	UPI00004565E6	SNV	PPFIBP1,synonymous_variant,p.%3D,ENST00000542629,;PPFIBP1,synonymous_variant,p.%3D,ENST00000540114,;PPFIBP1,synonymous_variant,p.%3D,ENST00000537927,;PPFIBP1,synonymous_variant,p.%3D,ENST00000318304,;PPFIBP1,synonymous_variant,p.%3D,ENST00000228425,;PPFIBP1,upstream_gene_variant,,ENST00000539326,;PPFIBP1,downstream_gene_variant,,ENST00000537261,;PPFIBP1,upstream_gene_variant,,ENST00000540503,;	2056	245	170	SUCCESS
RND1	27289	.	GRCh37	12	49258640	49258640	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	36	155	0	ENST00000309739.5:c.134C>T	p.Thr45Ile	p.T45I	ENST00000309739	NM_014470.3	45	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS8771.1	134	RADIA|MUTECT|MUSE|VARSCANS	.	ACACGGTGGGC	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF23,PROSITE_profiles:PS51420	.	.	ENSP00000308461	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000309739	Transcript	.	.	ENSG00000172602	18314	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.633)	.	deleterious(0)	.	RND1_HUMAN	RND1	HGNC	H0YHG7_HUMAN	.	UPI000013388D	SNV	RND1,missense_variant,p.Thr45Ile,ENST00000309739,;RND1,upstream_gene_variant,,ENST00000550607,;RND1,3_prime_UTR_variant,,ENST00000551243,;RND1,upstream_gene_variant,,ENST00000553260,;	265	155	182	SUCCESS
KMT2D	8085	.	GRCh37	12	49427094	49427094	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	79	0	ENST00000301067.7:c.11394C>T	p.Pro3798=	p.P3798=	ENST00000301067	NM_003482.3	3798	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS44873.1	11394	MUTECT|MUSE	.	CCCTGGGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	11394	79	76	SUCCESS
GRIP1	23426	.	GRCh37	12	66786128	66786128	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	75	0	ENST00000359742.4:c.2424A>C	p.Ser808=	p.S808=	ENST00000359742		808	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS41807.1	2268	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCATGAATC	NONE	.	.	hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316	.	.	ENSP00000381098	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,synonymous_variant,p.%3D,ENST00000538211,;GRIP1,synonymous_variant,p.%3D,ENST00000538164,;GRIP1,synonymous_variant,p.%3D,ENST00000286445,;GRIP1,synonymous_variant,p.%3D,ENST00000536215,;GRIP1,synonymous_variant,p.%3D,ENST00000398016,;GRIP1,synonymous_variant,p.%3D,ENST00000359742,;GRIP1,synonymous_variant,p.%3D,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,non_coding_transcript_exon_variant,,ENST00000541299,;	2337	75	64	SUCCESS
GRIP1	23426	.	GRCh37	12	66786129	66786129	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1244319253	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	74	0	ENST00000359742.4:c.2423C>T	p.Ser808Leu	p.S808L	ENST00000359742		808	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS41807.1	2267	RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGAATCC	NONE	.	.	hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316	.	.	ENSP00000381098	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.844)	.	deleterious(0.02)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Ser756Leu,ENST00000538211,;GRIP1,missense_variant,p.Ser623Leu,ENST00000538164,;GRIP1,missense_variant,p.Ser808Leu,ENST00000286445,;GRIP1,missense_variant,p.Ser648Leu,ENST00000536215,;GRIP1,missense_variant,p.Ser756Leu,ENST00000398016,;GRIP1,missense_variant,p.Ser808Leu,ENST00000359742,;GRIP1,missense_variant,p.Ser700Leu,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,non_coding_transcript_exon_variant,,ENST00000541299,;	2336	74	67	SUCCESS
CNOT2	4848	.	GRCh37	12	70729244	70729244	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	48	123	0	ENST00000229195.3:c.676G>T	p.Asp226Tyr	p.D226Y	ENST00000229195	NM_014515.5	226	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS31857.1	676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGGACCTT	NONE	.	.	hmmpanther:PTHR23326	.	.	ENSP00000229195	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000229195	Transcript	.	.	ENSG00000111596	7878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	deleterious(0)	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,missense_variant,p.Asp226Tyr,ENST00000551043,;CNOT2,missense_variant,p.Asp80Tyr,ENST00000552483,;CNOT2,missense_variant,p.Asp226Tyr,ENST00000552231,;CNOT2,missense_variant,p.Asp89Tyr,ENST00000550160,;CNOT2,missense_variant,p.Asp226Tyr,ENST00000229195,;CNOT2,missense_variant,p.Asp165Tyr,ENST00000552915,;CNOT2,missense_variant,p.Asp226Tyr,ENST00000418359,;CNOT2,missense_variant,p.Asp217Tyr,ENST00000548159,;CNOT2,missense_variant,p.Asp36Tyr,ENST00000550155,;CNOT2,incomplete_terminal_codon_variant,p.%3D,ENST00000550194,;CNOT2,5_prime_UTR_variant,,ENST00000551483,;CNOT2,downstream_gene_variant,,ENST00000551873,;CNOT2,upstream_gene_variant,,ENST00000552599,;CNOT2,downstream_gene_variant,,ENST00000550641,;CNOT2,upstream_gene_variant,,ENST00000548338,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549947,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548230,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549443,;CNOT2,downstream_gene_variant,,ENST00000547149,;CNOT2,3_prime_UTR_variant,,ENST00000548599,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548021,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548863,;CNOT2,downstream_gene_variant,,ENST00000552151,;CNOT2,upstream_gene_variant,,ENST00000546673,;CNOT2,upstream_gene_variant,,ENST00000548939,;	1255	123	134	SUCCESS
PTPRQ	374462	.	GRCh37	12	81026036	81026036	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	109	0	ENST00000266688.5:c.5740A>G	p.Ile1914Val	p.I1914V	ENST00000266688		1914	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	5740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATAATTCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527	.	.	ENSP00000266688	.	39/50	.	.	.	.	.	.	.	.	.	39/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(1)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Ile1914Val,ENST00000266688,;PTPRQ,missense_variant,p.Ile13Val,ENST00000547881,;PTPRQ,upstream_gene_variant,,ENST00000549355,;	5740	109	115	SUCCESS
WNK1	65125	.	GRCh37	12	992147	992147	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	24	170	0	ENST00000315939.6:c.3411A>T	p.Leu1137Phe	p.L1137F	ENST00000315939	NM_018979.3	1137	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS8506.1	3411	RADIA|MUTECT|MUSE|VARSCANS	.	CAATTAGAGAC	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46	.	.	ENSP00000313059	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000315939	Transcript	.	.	ENSG00000060237	14540	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	WNK1_HUMAN	WNK1	HGNC	Q96CZ6_HUMAN	.	UPI000013CD65	SNV	WNK1,missense_variant,p.Leu1137Phe,ENST00000315939,;WNK1,missense_variant,p.Leu214Phe,ENST00000544965,;WNK1,missense_variant,p.Leu730Phe,ENST00000340908,;WNK1,missense_variant,p.Leu1635Phe,ENST00000530271,;WNK1,missense_variant,p.Leu1397Phe,ENST00000537687,;WNK1,missense_variant,p.Leu890Phe,ENST00000535572,;WNK1,intron_variant,,ENST00000534872,;WNK1,downstream_gene_variant,,ENST00000535698,;WNK1,downstream_gene_variant,,ENST00000545285,;WNK1,downstream_gene_variant,,ENST00000574679,;WNK1,non_coding_transcript_exon_variant,,ENST00000545055,;WNK1,downstream_gene_variant,,ENST00000542543,;	4054	170	144	SUCCESS
IRS2	8660	.	GRCh37	13	110436754	110436754	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	114	0	ENST00000375856.3:c.1647G>T	p.Leu549=	p.L549=	ENST00000375856	NM_003749.2	549	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9510.1	1647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCAGGGG	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,synonymous_variant,p.%3D,ENST00000375856,;	2162	114	92	SUCCESS
USP12	219333	.	GRCh37	13	27745860	27745860	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	30	0	ENST00000282344.6:c.-84C>T		p.*28*	ENST00000282344	NM_182488.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31952.1	.	MUTECT|MUSE	.	CCGCAGCCCGC	NONE	.	.	.	.	.	ENSP00000282344	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000282344	Transcript	.	.	ENSG00000152484	20485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP12_HUMAN	USP12	HGNC	.	.	UPI0000198DEE	SNV	USP12,5_prime_UTR_variant,,ENST00000282344,;USP12-AS1,downstream_gene_variant,,ENST00000440657,;USP12-AS2,upstream_gene_variant,,ENST00000452222,;	174	30	19	SUCCESS
DCLK1	9201	.	GRCh37	13	36428696	36428696	+	synonymous_variant	Silent	SNP	C	C	T	rs151019237	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	75	0	ENST00000360631.3:c.975G>A	p.Pro325=	p.P325=	ENST00000360631		325	ccG/ccA	0	.	T:0.0015	.	T:0	.	T	P	protein_coding	YES	CCDS9354.1	975	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCGGAGT	BUFFER|p.R326C|c.976C>T|3,BUFFER|p.R326C|c.976C>T|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347,Low_complexity_(Seg):seg	T:0	.	ENSP00000255448	T:0	6/18	.	.	.	.	.	.	.	.	rs151019237,COSM1514283,COSM1514281,COSM1514282	6/18	PASS	ENST00000255448	Transcript	.	T:0.0004	ENSG00000133083	2700	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	.	T:0	.	0,1,1,1	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,synonymous_variant,p.%3D,ENST00000360631,;DCLK1,synonymous_variant,p.%3D,ENST00000379893,;DCLK1,synonymous_variant,p.%3D,ENST00000255448,;DCLK1,synonymous_variant,p.%3D,ENST00000379892,;DCLK1,non_coding_transcript_exon_variant,,ENST00000460982,;	1187	75	74	SUCCESS
TRPC4	7223	.	GRCh37	13	38237691	38237691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	35	167	0	ENST00000379705.3:c.1550T>C	p.Leu517Ser	p.L517S	ENST00000379705		517	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS45037.1	1550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCAAAATG	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870	.	.	ENSP00000369003	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000379681	Transcript	.	.	ENSG00000133107	12336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	TRPC4_HUMAN	TRPC4	HGNC	.	.	UPI000006E5BE	SNV	TRPC4,missense_variant,p.Leu517Ser,ENST00000379673,;TRPC4,missense_variant,p.Leu344Ser,ENST00000338947,;TRPC4,missense_variant,p.Leu517Ser,ENST00000379681,;TRPC4,missense_variant,p.Leu517Ser,ENST00000447043,;TRPC4,missense_variant,p.Leu344Ser,ENST00000379679,;TRPC4,missense_variant,p.Leu517Ser,ENST00000355779,;TRPC4,missense_variant,p.Leu517Ser,ENST00000358477,;TRPC4,missense_variant,p.Leu517Ser,ENST00000379705,;TRPC4,intron_variant,,ENST00000426868,;TRPC4,non_coding_transcript_exon_variant,,ENST00000494529,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	1785	167	140	SUCCESS
RB1	5925	.	GRCh37	13	48936988	48936988	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	28	383	0	ENST00000267163.4:c.756del	p.Arg254GlyfsTer10	p.R254Gfs*10	ENST00000267163	NM_000321.2	252	acA/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS31973.1	756	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGAACACCCAG	BUFFER|p.R251*|c.751C>T|11,BUFFER|p.R251*|c.751C>T|6	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	deletion	RB1,frameshift_variant,p.Arg254GlyfsTer10,ENST00000267163,;RB1,3_prime_UTR_variant,,ENST00000467505,;RB1,downstream_gene_variant,,ENST00000525036,;	894	383	241	SUCCESS
OLFM4	10562	.	GRCh37	13	53624870	53624870	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	53	0	ENST00000219022.2:c.1497G>C	p.Leu499=	p.L499=	ENST00000219022	NM_006418.4	499	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9440.1	1497	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGAATTA	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:0046203	.	.	ENSP00000219022	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000219022	Transcript	.	.	ENSG00000102837	17190	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OLFM4_HUMAN	OLFM4	HGNC	.	.	UPI00000359F0	SNV	OLFM4,synonymous_variant,p.%3D,ENST00000219022,;	1575	53	46	SUCCESS
ARHGEF40	55701	.	GRCh37	14	21544595	21544595	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	52	0	ENST00000298694.4:c.1816C>T	p.Pro606Ser	p.P606S	ENST00000298694	NM_001278529.1	606	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32041.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTCCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	.	.	ENSP00000298694	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000298694	Transcript	.	.	ENSG00000165801	25516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.53)	.	ARH40_HUMAN	ARHGEF40	HGNC	.	.	UPI00001FCFB7	SNV	ARHGEF40,missense_variant,p.Pro606Ser,ENST00000298694,;ARHGEF40,missense_variant,p.Pro606Ser,ENST00000298693,;ARHGEF40,downstream_gene_variant,,ENST00000555038,;ARHGEF40,missense_variant,p.Pro606Ser,ENST00000553709,;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555052,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,;ARHGEF40,upstream_gene_variant,,ENST00000554514,;	1943	52	43	SUCCESS
G2E3	55632	.	GRCh37	14	31058658	31058658	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	22	144	0	ENST00000206595.6:c.205A>G	p.Ile69Val	p.I69V	ENST00000206595	NM_017769.3	69	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9638.1	205	RADIA|MUTECT|MUSE|VARSCANS	.	AAGATATCAGG	NONE	.	.	Pfam_domain:PF13771,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF13	.	.	ENSP00000206595	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000206595	Transcript	.	.	ENSG00000092140	20338	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.254)	.	deleterious(0.02)	.	G2E3_HUMAN	G2E3	HGNC	G3V5B6_HUMAN,G3V3B6_HUMAN,F8W0F5_HUMAN,F8VY49_HUMAN,F5GX24_HUMAN	.	UPI000013F3A8	SNV	G2E3,missense_variant,p.Ile99Val,ENST00000553504,;G2E3,missense_variant,p.Ile69Val,ENST00000206595,;G2E3,missense_variant,p.Ile69Val,ENST00000555429,;G2E3,missense_variant,p.Ile23Val,ENST00000438909,;G2E3,missense_variant,p.Ile69Val,ENST00000554714,;G2E3,missense_variant,p.Ile69Val,ENST00000550944,;G2E3,missense_variant,p.Ile69Val,ENST00000547532,;G2E3,upstream_gene_variant,,ENST00000552515,;G2E3,non_coding_transcript_exon_variant,,ENST00000544007,;G2E3,non_coding_transcript_exon_variant,,ENST00000552488,;G2E3,upstream_gene_variant,,ENST00000549553,;G2E3,splice_region_variant,,ENST00000547209,;	359	144	141	SUCCESS
KIAA0391	0	.	GRCh37	14	35649939	35649939	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	83	0	ENST00000534898.4:c.1231C>G	p.Leu411Val	p.L411V	ENST00000534898		411	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS32063.1	1231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCTCAAT	NONE	.	.	hmmpanther:PTHR13547,hmmpanther:PTHR13547:SF1	.	.	ENSP00000440915	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000534898	Transcript	.	.	ENSG00000100890	19958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	MRRP3_HUMAN	KIAA0391	HGNC	S4R416_HUMAN,S4R3T4_HUMAN,S4R3S1_HUMAN	.	UPI000000CC23	SNV	KIAA0391,missense_variant,p.Leu39Val,ENST00000557404,;KIAA0391,missense_variant,p.Leu39Val,ENST00000605870,;KIAA0391,missense_variant,p.Leu316Val,ENST00000604948,;KIAA0391,missense_variant,p.Leu316Val,ENST00000250377,;KIAA0391,missense_variant,p.Leu395Val,ENST00000603544,;KIAA0391,missense_variant,p.Leu411Val,ENST00000534898,;KIAA0391,missense_variant,p.Leu395Val,ENST00000321130,;KIAA0391,missense_variant,p.Leu411Val,ENST00000557565,;	1591	83	80	SUCCESS
NEMF	9147	.	GRCh37	14	50266232	50266232	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	43	283	0	ENST00000298310.5:c.2426A>C	p.Lys809Thr	p.K809T	ENST00000298310		809	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS9694.1	2426	RADIA|MUTECT|MUSE|VARSCANS	.	GTGATTTACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1	.	.	ENSP00000298310	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000298310	Transcript	.	.	ENSG00000165525	10663	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	tolerated(0.23)	.	NEMF_HUMAN	NEMF	HGNC	.	.	UPI0000246D16	SNV	NEMF,missense_variant,p.Lys788Thr,ENST00000546046,;NEMF,missense_variant,p.Lys767Thr,ENST00000555970,;NEMF,missense_variant,p.Lys809Thr,ENST00000298310,;NEMF,missense_variant,p.Lys767Thr,ENST00000545773,;NEMF,upstream_gene_variant,,ENST00000382135,;NEMF,non_coding_transcript_exon_variant,,ENST00000556691,;NEMF,non_coding_transcript_exon_variant,,ENST00000556925,;NEMF,upstream_gene_variant,,ENST00000555863,;NEMF,downstream_gene_variant,,ENST00000555411,;NEMF,non_coding_transcript_exon_variant,,ENST00000556074,;	2876	283	275	SUCCESS
SLC10A1	6554	.	GRCh37	14	70246027	70246027	+	synonymous_variant	Silent	SNP	A	A	T	rs375859965	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	109	0	ENST00000216540.4:c.618T>A	p.Ser206=	p.S206=	ENST00000216540	NM_003049.3	206	tcT/tcA	0	G:0	.	.	.	.	T	S	protein_coding	YES	CCDS9797.1	618	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCAGAGAG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18	.	G:0.0002	ENSP00000216540	.	3/5	.	.	.	.	.	.	.	.	rs375859965	3/5	PASS	ENST00000216540	Transcript	.	.	ENSG00000100652	10905	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTCP_HUMAN	SLC10A1	HGNC	Q9UK36_HUMAN	.	UPI0000130576	SNV	SLC10A1,synonymous_variant,p.%3D,ENST00000216540,;	752	109	93	SUCCESS
RIN3	79890	.	GRCh37	14	93118677	93118677	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	198	1	ENST00000216487.7:c.1283A>G	p.Glu428Gly	p.E428G	ENST00000216487	NM_024832.3	428	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32144.1	1283	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGAGAGCA	BUFFER|p.T425T|c.1275G>A|3	.	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101	.	.	ENSP00000216487	.	6/10	.	.	.	.	.	.	.	.	COSM247044	6/10	PASS	ENST00000216487	Transcript	.	.	ENSG00000100599	18751	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	tolerated(0.2)	1	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,missense_variant,p.Glu428Gly,ENST00000216487,;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	1442	199	137	SUCCESS
MGA	23269	.	GRCh37	15	42054035	42054035	+	synonymous_variant	Silent	SNP	A	A	G	rs1487670268	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	58	214	0	ENST00000219905.7:c.7497A>G	p.Val2499=	p.V2499=	ENST00000219905	NM_001164273.1	2499	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS55959.1	7497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTATCGTC	NONE	.	.	Superfamily_domains:SSF47459,Gene3D:4.10.280.10,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000564190,;MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MGA,non_coding_transcript_exon_variant,,ENST00000568255,;	7678	214	220	SUCCESS
LEO1	123169	.	GRCh37	15	52258161	52258161	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	79	0	ENST00000299601.5:c.599A>T	p.Glu200Val	p.E200V	ENST00000299601	NM_138792.2	200	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS10146.1	599	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTCATCA	NONE	.	.	hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146	.	.	ENSP00000299601	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.174)	.	deleterious_low_confidence(0)	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,missense_variant,p.Glu200Val,ENST00000315141,;LEO1,missense_variant,p.Glu200Val,ENST00000299601,;MAPK6,intron_variant,,ENST00000560802,;	660	79	77	SUCCESS
LMAN1L	79748	.	GRCh37	15	75111586	75111586	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	62	0	ENST00000309664.5:c.691G>T	p.Val231Phe	p.V231F	ENST00000309664	NM_021819.2	231	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS10270.1	691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGTCTCA	NONE	.	.	Superfamily_domains:SSF49899,Pfam_domain:PF03388,Gene3D:2.60.120.200,hmmpanther:PTHR12223:SF27,hmmpanther:PTHR12223,PROSITE_profiles:PS51328,Low_complexity_(Seg):seg	.	.	ENSP00000310431	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000309664	Transcript	.	.	ENSG00000140506	6632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.02)	.	LMA1L_HUMAN	LMAN1L	HGNC	.	.	UPI00001AEF1F	SNV	LMAN1L,missense_variant,p.Val231Phe,ENST00000379709,;LMAN1L,missense_variant,p.Val231Phe,ENST00000309664,;LMAN1L,downstream_gene_variant,,ENST00000562810,;LMAN1L,upstream_gene_variant,,ENST00000567848,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000456603,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000470711,;LMAN1L,downstream_gene_variant,,ENST00000570147,;LMAN1L,upstream_gene_variant,,ENST00000566046,;LMAN1L,downstream_gene_variant,,ENST00000568467,;LMAN1L,upstream_gene_variant,,ENST00000565585,;RP11-414J4.2,upstream_gene_variant,,ENST00000564823,;	830	62	71	SUCCESS
SNX29	92017	.	GRCh37	16	12497309	12497318	+	frameshift_variant	Frame_Shift_Del	DEL	AACCGGGCGC	AACCGGGCGC	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	AACCGGGCGC	AACCGGGCGC	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	136	0	ENST00000566228.1:c.1960_1969del	p.Asn654Ter	p.N654*	ENST00000566228	NM_032167.3	654	AACCGGGCGCtg/tg	0	.	.	.	.	.	-	NRAL/X	protein_coding	YES	CCDS10553.2	1960-1969	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATCAAACCGGGCGCTGATC	NONE	.	.	PROSITE_profiles:PS50195,Gene3D:3.30.1520.10,Superfamily_domains:SSF64268	.	.	ENSP00000456480	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000566228	Transcript	.	.	ENSG00000048471	30542	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNX29_HUMAN	SNX29	HGNC	J3KNF2_HUMAN	.	UPI00000382F9	deletion	SNX29,frameshift_variant,p.Asn143Ter,ENST00000564791,;SNX29,frameshift_variant,p.Asn654Ter,ENST00000566228,;SNX29,frameshift_variant,p.Asn269Ter,ENST00000323433,;SNX29,frameshift_variant,p.Asn269Ter,ENST00000306030,;SNX29,frameshift_variant,p.Asn30Ter,ENST00000562510,;	2029-2038	136	90	SUCCESS
UMOD	7369	.	GRCh37	16	20359779	20359779	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	47	1	ENST00000302509.4:c.844T>G	p.Cys282Gly	p.C282G	ENST00000302509		282	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS10583.1	844	RADIA|MUTECT|MUSE|VARSCANS	.	GTGACACTCGG	NONE	.	.	hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF12	.	.	ENSP00000460548	.	3/11	.	.	.	.	.	.	.	.	CM034990	3/11	PASS	ENST00000570689	Transcript	.	.	ENSG00000169344	12559	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UROM_HUMAN	UMOD	HGNC	Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN	.	UPI0000137E1A	SNV	UMOD,missense_variant,p.Cys282Gly,ENST00000570689,;UMOD,missense_variant,p.Cys315Gly,ENST00000396134,;UMOD,missense_variant,p.Cys282Gly,ENST00000302509,;UMOD,missense_variant,p.Cys315Gly,ENST00000424589,;UMOD,missense_variant,p.Cys282Gly,ENST00000396142,;UMOD,missense_variant,p.Cys331Gly,ENST00000396138,;UMOD,downstream_gene_variant,,ENST00000577168,;UMOD,downstream_gene_variant,,ENST00000571174,;UMOD,downstream_gene_variant,,ENST00000573567,;UMOD,downstream_gene_variant,,ENST00000576546,;UMOD,downstream_gene_variant,,ENST00000570972,;UMOD,downstream_gene_variant,,ENST00000576688,;UMOD,downstream_gene_variant,,ENST00000574195,;UMOD,downstream_gene_variant,,ENST00000570757,;	991	49	65	SUCCESS
C16orf82	162083	.	GRCh37	16	27080315	27080315	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	98	0	ENST00000505035.1:n.2288G>A		p.*763*	ENST00000505035				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGCCCGT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000505035	Transcript	.	.	ENSG00000234186	30755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	C16orf82	HGNC	.	.	.	SNV	C16orf82,non_coding_transcript_exon_variant,,ENST00000505035,;C16orf82,non_coding_transcript_exon_variant,,ENST00000418886,;RP11-673P17.2,upstream_gene_variant,,ENST00000565783,;	2288	98	109	SUCCESS
GSG1L	146395	.	GRCh37	16	27840137	27840137	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	31	99	1	ENST00000447459.2:c.803C>A	p.Pro268His	p.P268H	ENST00000447459	NM_001109763.1	268	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS45450.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGGGTCT	NONE	.	.	hmmpanther:PTHR10671:SF35,hmmpanther:PTHR10671	.	.	ENSP00000394954	.	5/7	.	.	.	.	.	.	.	.	COSM1518538,COSM1518537	5/7	PASS	ENST00000447459	Transcript	.	.	ENSG00000169181	28283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.006)	.	tolerated(0.39)	1,1	GSG1L_HUMAN	GSG1L	HGNC	.	.	UPI0000EE765B	SNV	GSG1L,missense_variant,p.Pro113His,ENST00000380897,;GSG1L,missense_variant,p.Pro113His,ENST00000569166,;GSG1L,missense_variant,p.Pro217His,ENST00000395724,;GSG1L,missense_variant,p.Pro268His,ENST00000447459,;GSG1L,missense_variant,p.Pro113His,ENST00000380898,;GSG1L,3_prime_UTR_variant,,ENST00000562611,;	888	100	91	SUCCESS
XPO6	23214	.	GRCh37	16	28187343	28187359	+	frameshift_variant	Frame_Shift_Del	DEL	AGTTTGGGCAGACAGCT	AGTTTGGGCAGACAGCT	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	AGTTTGGGCAGACAGCT	AGTTTGGGCAGACAGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	117	14	154	0	ENST00000304658.5:c.265_281del	p.Ser89ProfsTer6	p.S89Pfs*6	ENST00000304658	NM_015171.3	89	AGCTGTCTGCCCAAACTc/c	0	.	.	.	.	.	-	SCLPKL/X	protein_coding	YES	CCDS42135.1	265-281	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAAGGAGTTTGGGCAGACAGCTACGGA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00913,Pfam_domain:PF03810,Gene3D:1.25.10.10,hmmpanther:PTHR21452,PROSITE_profiles:PS50166	.	.	ENSP00000302790	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	deletion	XPO6,frameshift_variant,p.Ser75ProfsTer6,ENST00000570033,;XPO6,frameshift_variant,p.Ser89ProfsTer6,ENST00000304658,;XPO6,frameshift_variant,p.Ser75ProfsTer6,ENST00000565698,;XPO6,downstream_gene_variant,,ENST00000566073,;XPO6,downstream_gene_variant,,ENST00000569951,;SNORA25,upstream_gene_variant,,ENST00000363782,;XPO6,upstream_gene_variant,,ENST00000573645,;	766-782	154	131	SUCCESS
CREBBP	1387	.	GRCh37	16	3843532	3843532	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	55	134	0	ENST00000262367.5:c.1071G>A	p.Gln357=	p.Q357=	ENST00000262367	NM_004380.2	357	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS10509.1	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCTGCTG	BUFFER|p.Q355*|c.1063C>T|3	.	.	PROSITE_profiles:PS50134,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Gene3D:1.20.1020.10,Pfam_domain:PF02135,SMART_domains:SM00551,Superfamily_domains:SSF57933	.	.	ENSP00000262367	.	4/31	.	.	.	.	.	.	.	.	.	4/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,synonymous_variant,p.%3D,ENST00000262367,;CREBBP,synonymous_variant,p.%3D,ENST00000382070,;	1881	134	125	SUCCESS
RBL2	5934	.	GRCh37	16	53514601	53514602	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	187	24	158	0	ENST00000262133.6:c.3008dup	p.Asp1004ArgfsTer15	p.D1004Rfs*15	ENST00000262133	NM_005611.3	1002	agg/aGgg	0	.	.	.	.	.	G	R/RX	protein_coding	YES	CCDS10748.1	3004-3005	VARSCANI*|PINDEL	.	AGGAGAGGGGA	NONE	.	.	hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Pfam_domain:PF01857,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000262133	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	insertion	RBL2,frameshift_variant,p.Asp1004ArgfsTer15,ENST00000262133,;RBL2,intron_variant,,ENST00000544545,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,non_coding_transcript_exon_variant,,ENST00000564605,;	3141-3142	158	211	SUCCESS
IRX5	10265	.	GRCh37	16	54966798	54966798	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	224	93	381	0	ENST00000394636.4:c.638C>G	p.Pro213Arg	p.P213R	ENST00000394636		213	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS10751.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCCCGAGG	NONE	.	.	hmmpanther:PTHR11211:SF17,hmmpanther:PTHR11211,Low_complexity_(Seg):seg	.	.	ENSP00000378132	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000394636	Transcript	.	.	ENSG00000176842	14361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.31)	.	IRX5_HUMAN	IRX5	HGNC	.	.	UPI00001FF1CD	SNV	IRX5,missense_variant,p.Pro147Arg,ENST00000558597,;IRX5,missense_variant,p.Pro213Arg,ENST00000320990,;IRX5,missense_variant,p.Pro213Arg,ENST00000394636,;IRX5,intron_variant,,ENST00000560154,;CRNDE,upstream_gene_variant,,ENST00000558952,;CTD-3032H12.2,upstream_gene_variant,,ENST00000560487,;CRNDE,upstream_gene_variant,,ENST00000559598,;CRNDE,upstream_gene_variant,,ENST00000560208,;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000501177,;CRNDE,upstream_gene_variant,,ENST00000559432,;CTD-3032H12.1,downstream_gene_variant,,ENST00000559802,;CRNDE,upstream_gene_variant,,ENST00000560912,;CRNDE,upstream_gene_variant,,ENST00000557792,;	975	381	317	SUCCESS
KIFC3	3801	.	GRCh37	16	57805281	57805281	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	26	107	0	ENST00000379655.4:c.594G>A	p.Leu198=	p.L198=	ENST00000379655	NM_005550.3	198	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10789.2	594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACAGCAT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000368976	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000379655	Transcript	.	.	ENSG00000140859	6326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIFC3_HUMAN	KIFC3	HGNC	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN	.	UPI000059D399	SNV	KIFC3,synonymous_variant,p.%3D,ENST00000562984,;KIFC3,synonymous_variant,p.%3D,ENST00000539578,;KIFC3,synonymous_variant,p.%3D,ENST00000543930,;KIFC3,synonymous_variant,p.%3D,ENST00000379655,;KIFC3,synonymous_variant,p.%3D,ENST00000562311,;KIFC3,synonymous_variant,p.%3D,ENST00000569222,;KIFC3,synonymous_variant,p.%3D,ENST00000540079,;KIFC3,synonymous_variant,p.%3D,ENST00000562503,;KIFC3,synonymous_variant,p.%3D,ENST00000421376,;KIFC3,synonymous_variant,p.%3D,ENST00000465878,;KIFC3,synonymous_variant,p.%3D,ENST00000565481,;KIFC3,synonymous_variant,p.%3D,ENST00000445690,;KIFC3,synonymous_variant,p.%3D,ENST00000541240,;KIFC3,synonymous_variant,p.%3D,ENST00000562903,;KIFC3,synonymous_variant,p.%3D,ENST00000569112,;KIFC3,downstream_gene_variant,,ENST00000565684,;KIFC3,downstream_gene_variant,,ENST00000566648,;KIFC3,downstream_gene_variant,,ENST00000565351,;KIFC3,downstream_gene_variant,,ENST00000561524,;KIFC3,downstream_gene_variant,,ENST00000569619,;KIFC3,downstream_gene_variant,,ENST00000567204,;KIFC3,downstream_gene_variant,,ENST00000566975,;KIFC3,synonymous_variant,p.%3D,ENST00000564136,;KIFC3,downstream_gene_variant,,ENST00000564204,;	852	107	102	SUCCESS
TNFRSF13B	23495	.	GRCh37	17	16842939	16842939	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	116	0	ENST00000261652.2:c.804G>T	p.Leu268=	p.L268=	ENST00000261652	NM_012452.2	268	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11181.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCAGGAC	NONE	.	.	hmmpanther:PTHR15511,hmmpanther:PTHR15511:SF2	.	.	ENSP00000261652	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261652	Transcript	.	.	ENSG00000240505	18153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR13B_HUMAN	TNFRSF13B	HGNC	Q4ACX1_HUMAN	.	UPI00000347FC	SNV	TNFRSF13B,synonymous_variant,p.%3D,ENST00000583789,;TNFRSF13B,synonymous_variant,p.%3D,ENST00000261652,;TNFRSF13B,intron_variant,,ENST00000437538,;TNFRSF13B,intron_variant,,ENST00000579315,;TNFRSF13B,downstream_gene_variant,,ENST00000581616,;TBC1D27,upstream_gene_variant,,ENST00000261651,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000579009,;TNFRSF13B,intron_variant,,ENST00000582931,;TNFRSF13B,intron_variant,,ENST00000584950,;	817	116	104	SUCCESS
DHRS13	147015	.	GRCh37	17	27228310	27228310	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756925355	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	78	201	0	ENST00000378895.4:c.380C>T	p.Ser127Phe	p.S127F	ENST00000378895	NM_144683.3	127	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS11246.2	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGAACTG	NONE	.	.	hmmpanther:PTHR24320:SF53,hmmpanther:PTHR24320,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000368173	.	4/5	.	.	.	.	.	.	.	.	rs756925355	4/5	PASS	ENST00000378895	Transcript	.	.	ENSG00000167536	28326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.7)	.	DHR13_HUMAN	DHRS13	HGNC	.	.	UPI00001D6289	SNV	DHRS13,missense_variant,p.Ser127Phe,ENST00000378895,;DHRS13,missense_variant,p.Ser46Phe,ENST00000426464,;DHRS13,missense_variant,p.Ser77Phe,ENST00000394901,;FLOT2,upstream_gene_variant,,ENST00000394906,;PHF12,downstream_gene_variant,,ENST00000577226,;FLOT2,upstream_gene_variant,,ENST00000585169,;FLOT2,upstream_gene_variant,,ENST00000394908,;PHF12,downstream_gene_variant,,ENST00000332830,;RP11-20B24.4,downstream_gene_variant,,ENST00000579187,;RP11-20B24.4,downstream_gene_variant,,ENST00000580603,;DHRS13,upstream_gene_variant,,ENST00000581974,;FLOT2,upstream_gene_variant,,ENST00000577789,;DHRS13,non_coding_transcript_exon_variant,,ENST00000581759,;FLOT2,upstream_gene_variant,,ENST00000580805,;FLOT2,upstream_gene_variant,,ENST00000582174,;PHF12,downstream_gene_variant,,ENST00000589176,;FLOT2,upstream_gene_variant,,ENST00000593158,;FLOT2,upstream_gene_variant,,ENST00000586827,;	507	201	186	SUCCESS
CACNB1	782	.	GRCh37	17	37331579	37331579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	58	0	ENST00000394303.3:c.1664A>G	p.Tyr555Cys	p.Y555C	ENST00000394303	NM_000723.4	555	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS42311.1	1664	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATAGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11824:SF6,hmmpanther:PTHR11824	.	.	ENSP00000377840	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000394303	Transcript	.	.	ENSG00000067191	1401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.161)	.	tolerated_low_confidence(0.16)	.	CACB1_HUMAN	CACNB1	HGNC	.	.	UPI0000127290	SNV	CACNB1,missense_variant,p.Tyr555Cys,ENST00000394303,;CACNB1,downstream_gene_variant,,ENST00000344140,;CACNB1,downstream_gene_variant,,ENST00000394310,;RP5-906A24.2,intron_variant,,ENST00000579256,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000582544,;	1872	58	78	SUCCESS
ERBB2	2064	.	GRCh37	17	37872630	37872630	+	synonymous_variant	Silent	SNP	C	C	T	rs957422814	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	76	0	ENST00000269571.5:c.1590C>T	p.Asn530=	p.N530=	ENST00000269571		530	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS32642.1	1590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAACTGCAG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF137,Gene3D:2.10.220.10,Pfam_domain:PF14843,SMART_domains:SM00261,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184	.	.	ENSP00000269571	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000269571	Transcript	.	.	ENSG00000141736	3430	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERBB2_HUMAN	ERBB2	HGNC	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN	.	UPI000003F55F	SNV	ERBB2,synonymous_variant,p.%3D,ENST00000584450,;ERBB2,synonymous_variant,p.%3D,ENST00000540042,;ERBB2,synonymous_variant,p.%3D,ENST00000541774,;ERBB2,synonymous_variant,p.%3D,ENST00000445658,;ERBB2,synonymous_variant,p.%3D,ENST00000578199,;ERBB2,synonymous_variant,p.%3D,ENST00000269571,;ERBB2,synonymous_variant,p.%3D,ENST00000406381,;ERBB2,synonymous_variant,p.%3D,ENST00000540147,;ERBB2,synonymous_variant,p.%3D,ENST00000584601,;ERBB2,upstream_gene_variant,,ENST00000580074,;ERBB2,upstream_gene_variant,,ENST00000582818,;ERBB2,downstream_gene_variant,,ENST00000578502,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;ERBB2,non_coding_transcript_exon_variant,,ENST00000582788,;ERBB2,upstream_gene_variant,,ENST00000584684,;ERBB2,downstream_gene_variant,,ENST00000584908,;ERBB2,downstream_gene_variant,,ENST00000582648,;ERBB2,upstream_gene_variant,,ENST00000578630,;	1749	76	84	SUCCESS
KRT37	8688	.	GRCh37	17	39577655	39577655	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	39	134	0	ENST00000225550.3:c.1205C>A	p.Ala402Asp	p.A402D	ENST00000225550	NM_003770.4	402	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS32653.1	1205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGGCAATC	BUFFER|p.E400K|c.1198G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148,PROSITE_patterns:PS00226,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000225550	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000225550	Transcript	.	.	ENSG00000108417	6455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.4)	.	KRT37_HUMAN	KRT37	HGNC	.	.	UPI000000DC9A	SNV	KRT37,missense_variant,p.Ala402Asp,ENST00000225550,;AC003958.2,intron_variant,,ENST00000432258,;	1205	134	116	SUCCESS
HOXB7	3217	.	GRCh37	17	46688357	46688357	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	34	0	ENST00000239165.7:c.-77C>G		p.*26*	ENST00000239165	NM_004502.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11532.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTAGAGTCC	NONE	.	.	.	.	.	ENSP00000239165	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239165	Transcript	.	.	ENSG00000260027	5118	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,5_prime_UTR_variant,,ENST00000239165,;HOXB8,downstream_gene_variant,,ENST00000468443,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB8,downstream_gene_variant,,ENST00000576562,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,intron_variant,,ENST00000567101,;HOXB7,upstream_gene_variant,,ENST00000467314,;	23	34	48	SUCCESS
RABEP1	9135	.	GRCh37	17	5286425	5286425	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	88	0	ENST00000537505.1:c.2367A>T	p.Leu789Phe	p.L789F	ENST00000537505		789	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS45592.1	2496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTAGAGCG	NONE	.	.	hmmpanther:PTHR31179:SF5,hmmpanther:PTHR31179,Gene3D:1.20.5.730,Superfamily_domains:SSF103652	.	.	ENSP00000262477	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000262477	Transcript	.	.	ENSG00000029725	17677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	RABE1_HUMAN	RABEP1	HGNC	.	.	UPI00000745A5	SNV	RABEP1,missense_variant,p.Leu799Phe,ENST00000408982,;RABEP1,missense_variant,p.Leu832Phe,ENST00000262477,;RABEP1,missense_variant,p.Leu799Phe,ENST00000341923,;RABEP1,missense_variant,p.Leu789Phe,ENST00000537505,;RABEP1,missense_variant,p.Leu832Phe,ENST00000546142,;NUP88,downstream_gene_variant,,ENST00000225696,;RABEP1,downstream_gene_variant,,ENST00000572250,;NUP88,downstream_gene_variant,,ENST00000573584,;NUP88,intron_variant,,ENST00000573169,;NUP88,intron_variant,,ENST00000576708,;NUP88,downstream_gene_variant,,ENST00000574855,;RABEP1,downstream_gene_variant,,ENST00000575475,;NUP88,downstream_gene_variant,,ENST00000576862,;NUP88,downstream_gene_variant,,ENST00000575976,;NUP88,downstream_gene_variant,,ENST00000574087,;	2720	88	106	SUCCESS
PSMD12	5718	.	GRCh37	17	65343347	65343347	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1324877809	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	16	98	0	ENST00000356126.3:c.680A>G	p.Tyr227Cys	p.Y227C	ENST00000356126	NM_002816.3	227	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11669.1	680	RADIA|MUTECT|MUSE|VARSCANS	.	AATTATAGTAC	NONE	.	.	hmmpanther:PTHR10855:SF1,hmmpanther:PTHR10855	.	.	ENSP00000348442	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000356126	Transcript	.	.	ENSG00000197170	9557	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	PSD12_HUMAN	PSMD12	HGNC	.	.	UPI0000132792	SNV	PSMD12,missense_variant,p.Tyr207Cys,ENST00000357146,;PSMD12,missense_variant,p.Tyr227Cys,ENST00000356126,;PSMD12,downstream_gene_variant,,ENST00000581618,;PSMD12,3_prime_UTR_variant,,ENST00000584008,;PSMD12,non_coding_transcript_exon_variant,,ENST00000584289,;PSMD12,upstream_gene_variant,,ENST00000577724,;PSMD12,downstream_gene_variant,,ENST00000579365,;	788	98	122	SUCCESS
ESCO1	114799	.	GRCh37	18	19154672	19154672	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs141644808	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	77	0	ENST00000269214.5:c.133A>G	p.Ile45Val	p.I45V	ENST00000269214	NM_052911.2	45	Ata/Gta	0	C:0	.	.	.	.	C	I/V	protein_coding	YES	CCDS32800.1	133	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATAGTCT	NONE	byCluster	.	hmmpanther:PTHR11076:SF26,hmmpanther:PTHR11076	.	C:0.0001	ENSP00000269214	.	4/12	.	.	.	.	.	.	.	.	rs141644808	4/12	PASS	ENST00000269214	Transcript	.	.	ENSG00000141446	24645	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	ESCO1_HUMAN	ESCO1	HGNC	.	.	UPI00001C1FF4	SNV	ESCO1,missense_variant,p.Ile45Val,ENST00000269214,;ESCO1,missense_variant,p.Ile45Val,ENST00000383276,;	1071	77	70	SUCCESS
KCTD1	284252	.	GRCh37	18	24127852	24127852	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	39	0	ENST00000317932.7:c.-15-46638T>A		p.*5*	ENST00000317932				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11888.1	.	MUTECT|VARSCANS	.	TTTGGAGCGGG	NONE	.	.	.	.	.	ENSP00000384367	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408011	Transcript	.	.	ENSG00000134504	18249	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCTD1_HUMAN	KCTD1	HGNC	J3KSG1_HUMAN	.	UPI00001CDFF1	SNV	KCTD1,missense_variant,p.Ser217Thr,ENST00000417602,;KCTD1,intron_variant,,ENST00000579973,;KCTD1,intron_variant,,ENST00000580638,;KCTD1,intron_variant,,ENST00000317932,;KCTD1,intron_variant,,ENST00000408011,;KCTD1,intron_variant,,ENST00000580191,;KCTD1,upstream_gene_variant,,ENST00000580059,;KCTD1,upstream_gene_variant,,ENST00000578973,;	.	39	49	SUCCESS
ZNF396	252884	.	GRCh37	18	32953439	32953439	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	47	89	0	ENST00000589332.1:c.543T>G	p.Leu181=	p.L181=	ENST00000589332		181	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11913.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGAAGCTC	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF26	.	.	ENSP00000302310	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000306346	Transcript	.	.	ENSG00000186496	18824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN396_HUMAN	ZNF396	HGNC	K7ERR8_HUMAN,K7EK38_HUMAN	.	UPI000013C36B	SNV	ZNF396,synonymous_variant,p.%3D,ENST00000586687,;ZNF396,synonymous_variant,p.%3D,ENST00000589332,;ZNF396,synonymous_variant,p.%3D,ENST00000306346,;ZNF396,downstream_gene_variant,,ENST00000587422,;ZNF396,downstream_gene_variant,,ENST00000585522,;ZNF396,non_coding_transcript_exon_variant,,ENST00000586585,;	675	89	86	SUCCESS
DCC	1630	.	GRCh37	18	51057014	51057014	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	107	0	ENST00000442544.2:c.4335A>C	p.Ser1445=	p.S1445=	ENST00000442544	NM_005215.3	1445	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS11952.1	4335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCAGCCTT	NONE	.	.	Pfam_domain:PF06583	.	.	ENSP00000389140	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,synonymous_variant,p.%3D,ENST00000442544,;DCC,downstream_gene_variant,,ENST00000581580,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,downstream_gene_variant,,ENST00000577224,;DCC,downstream_gene_variant,,ENST00000579702,;	4951	107	94	SUCCESS
NARS	0	.	GRCh37	18	55288968	55288968	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	38	0	ENST00000256854.5:c.-19G>A		p.*7*	ENST00000256854	NM_004539.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32837.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCACCTC	NONE	.	.	.	.	.	ENSP00000256854	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000256854	Transcript	.	.	ENSG00000134440	7643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYNC_HUMAN	NARS	HGNC	K7EPK2_HUMAN,K7EMQ6_HUMAN	.	UPI00001365E8	SNV	NARS,splice_region_variant,,ENST00000588661,;NARS,5_prime_UTR_variant,,ENST00000587194,;NARS,5_prime_UTR_variant,,ENST00000256854,;NARS,5_prime_UTR_variant,,ENST00000587675,;NARS,5_prime_UTR_variant,,ENST00000591599,;NARS,5_prime_UTR_variant,,ENST00000423481,;NARS,5_prime_UTR_variant,,ENST00000586807,;NARS,5_prime_UTR_variant,,ENST00000540592,;NARS,5_prime_UTR_variant,,ENST00000590123,;NARS,non_coding_transcript_exon_variant,,ENST00000411676,;NARS,non_coding_transcript_exon_variant,,ENST00000587366,;	438	38	45	SUCCESS
MALT1	10892	.	GRCh37	18	56402506	56402506	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	38	0	ENST00000348428.3:c.1548A>G	p.Lys516=	p.K516=	ENST00000348428	NM_006785.3	516	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS11967.1	1548	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAGACAG	NONE	.	.	Superfamily_domains:SSF52129,hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF20	.	.	ENSP00000319279	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000348428	Transcript	.	.	ENSG00000172175	6819	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MALT1_HUMAN	MALT1	HGNC	K7EP42_HUMAN	.	UPI000004D05E	SNV	MALT1,synonymous_variant,p.%3D,ENST00000345724,;MALT1,synonymous_variant,p.%3D,ENST00000348428,;RP11-126O1.4,intron_variant,,ENST00000588835,;MALT1,non_coding_transcript_exon_variant,,ENST00000589873,;	1806	38	49	SUCCESS
SERPINB10	5273	.	GRCh37	18	61597343	61597343	+	synonymous_variant	Silent	SNP	C	C	T	rs550376818	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	118	0	ENST00000238508.3:c.555C>T	p.Asn185=	p.N185=	ENST00000238508	NM_005024.1	185	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS11990.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAACGCCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11461:SF136,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000238508	.	6/8	.	.	.	.	.	.	.	.	rs550376818	6/8	PASS	ENST00000238508	Transcript	.	.	ENSG00000242550	8942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPB10_HUMAN	SERPINB10	HGNC	.	.	UPI000013558E	SNV	SERPINB10,synonymous_variant,p.%3D,ENST00000238508,;AC009802.1,downstream_gene_variant,,ENST00000599868,;	614	118	108	SUCCESS
CBLN2	147381	.	GRCh37	18	70205499	70205499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	17	125	0	ENST00000269503.4:c.587A>G	p.Asp196Gly	p.D196G	ENST00000269503	NM_182511.3	196	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS11999.1	587	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTCTTCC	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF50,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000269503	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269503	Transcript	.	.	ENSG00000141668	1544	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CBLN2_HUMAN	CBLN2	HGNC	.	.	UPI0000032E73	SNV	CBLN2,missense_variant,p.Asp80Gly,ENST00000584764,;CBLN2,missense_variant,p.Asp196Gly,ENST00000585159,;CBLN2,missense_variant,p.Asp196Gly,ENST00000269503,;CBLN2,missense_variant,p.Asp82Gly,ENST00000581073,;CBLN2,non_coding_transcript_exon_variant,,ENST00000583651,;CBLN2,non_coding_transcript_exon_variant,,ENST00000581425,;	1361	125	121	SUCCESS
KEAP1	9817	.	GRCh37	19	10602646	10602646	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	51	100	0	ENST00000171111.5:c.932A>T	p.His311Leu	p.H311L	ENST00000171111	NM_203500.1	311	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS12239.1	932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGTGCAGG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	COSM4073866,COSM3959484	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.005)	.	deleterious(0.01)	1,1	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.His311Leu,ENST00000393623,;KEAP1,missense_variant,p.His311Leu,ENST00000171111,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;KEAP1,upstream_gene_variant,,ENST00000590593,;	1480	100	95	SUCCESS
KEAP1	9817	.	GRCh37	19	10610207	10610207	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	105	0	ENST00000171111.5:c.503T>G	p.Val168Gly	p.V168G	ENST00000171111	NM_203500.1	168	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS12239.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGACAACG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Val168Gly,ENST00000591419,;KEAP1,missense_variant,p.Val168Gly,ENST00000591039,;KEAP1,missense_variant,p.Val168Gly,ENST00000393623,;KEAP1,missense_variant,p.Val168Gly,ENST00000171111,;KEAP1,missense_variant,p.Val168Gly,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Cys125Trp,ENST00000585845,;	1051	105	106	SUCCESS
ZNF625	90589	.	GRCh37	19	12256356	12256356	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767081402	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	46	125	0	ENST00000439556.2:c.875A>G	p.Tyr292Cys	p.Y292C	ENST00000439556		292	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS12269.2	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATATCGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF73,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000394380	.	4/4	.	.	.	.	.	.	.	.	rs767081402	4/4	PASS	ENST00000439556	Transcript	.	.	ENSG00000257591	30571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	tolerated(0.18)	.	ZN625_HUMAN	ZNF625	HGNC	.	.	UPI0000EE608F	SNV	ZNF625,missense_variant,p.Tyr226Cys,ENST00000542938,;ZNF625,missense_variant,p.Tyr292Cys,ENST00000439556,;ZNF625,missense_variant,p.Tyr226Cys,ENST00000355738,;ZNF625,3_prime_UTR_variant,,ENST00000455799,;ZNF625,intron_variant,,ENST00000414892,;CTC-359D24.3,upstream_gene_variant,,ENST00000472362,;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000434822,;ZNF625-ZNF20,intron_variant,,ENST00000430024,;CTC-359D24.3,upstream_gene_variant,,ENST00000486612,;	1046	125	160	SUCCESS
ZNF799	90576	.	GRCh37	19	12512029	12512029	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	24	0	ENST00000430385.3:c.-145C>T		p.*49*	ENST00000430385	NM_001080821.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45989.1	.	MUTECT|MUSE	.	GTGGAGAAGAC	NONE	.	.	.	.	.	ENSP00000411084	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000430385	Transcript	.	.	ENSG00000196466	28071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN799_HUMAN	ZNF799	HGNC	M0R135_HUMAN,D3YTF2_HUMAN	.	UPI000016184E	SNV	ZNF799,5_prime_UTR_variant,,ENST00000430385,;ZNF799,5_prime_UTR_variant,,ENST00000595766,;CTD-3105H18.16,intron_variant,,ENST00000595562,;ZNF799,upstream_gene_variant,,ENST00000419318,;CTD-3105H18.14,5_prime_UTR_variant,,ENST00000435033,;	57	24	48	SUCCESS
PTGER1	5731	.	GRCh37	19	14583393	14583393	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	57	0	ENST00000292513.3:c.1188C>G	p.His396Gln	p.H396Q	ENST00000292513	NM_000955.2	396	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS12309.1	1188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTGTGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF3,Prints_domain:PR00580	.	.	ENSP00000292513	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000292513	Transcript	.	.	ENSG00000160951	9593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.24)	.	PE2R1_HUMAN	PTGER1	HGNC	.	.	UPI0000140CA1	SNV	PTGER1,missense_variant,p.His396Gln,ENST00000292513,;PKN1,downstream_gene_variant,,ENST00000242783,;PKN1,downstream_gene_variant,,ENST00000592960,;PKN1,downstream_gene_variant,,ENST00000586237,;PKN1,downstream_gene_variant,,ENST00000342216,;PKN1,downstream_gene_variant,,ENST00000585839,;PKN1,downstream_gene_variant,,ENST00000586039,;PKN1,downstream_gene_variant,,ENST00000586900,;PKN1,downstream_gene_variant,,ENST00000591461,;PKN1,downstream_gene_variant,,ENST00000587215,;	1306	57	60	SUCCESS
ZNF98	148198	.	GRCh37	19	22575383	22575383	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	294	136	379	0	ENST00000357774.5:c.654C>T	p.Ala218=	p.A218=	ENST00000357774	NM_001098626.1	218	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46031.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATAGGCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,synonymous_variant,p.%3D,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	776	379	430	SUCCESS
ZNF98	148198	.	GRCh37	19	22575384	22575384	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	290	136	371	0	ENST00000357774.5:c.653C>A	p.Ala218Asp	p.A218D	ENST00000357774	NM_001098626.1	218	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS46031.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGGCTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,missense_variant,p.Ala218Asp,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	775	371	426	SUCCESS
ZNF573	126231	.	GRCh37	19	38230022	38230022	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	38	143	0	ENST00000536220.1:c.1105C>A	p.Leu369Ile	p.L369I	ENST00000536220	NM_001172689.1	369	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS59381.1	1369	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAGATTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF159,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000465020	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000590414	Transcript	.	.	ENSG00000189144	26420	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	.	ZNF573	HGNC	K7EJ45_HUMAN	.	UPI000059D70C	SNV	ZNF573,missense_variant,p.Leu369Ile,ENST00000357309,;ZNF573,missense_variant,p.Leu370Ile,ENST00000392138,;ZNF573,missense_variant,p.Leu399Ile,ENST00000339503,;ZNF573,missense_variant,p.Leu457Ile,ENST00000590414,;ZNF573,missense_variant,p.Leu369Ile,ENST00000536220,;ZNF573,downstream_gene_variant,,ENST00000585724,;ZNF573,downstream_gene_variant,,ENST00000378445,;ZNF573,intron_variant,,ENST00000590674,;ZNF573,3_prime_UTR_variant,,ENST00000589632,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,downstream_gene_variant,,ENST00000591516,;ZNF573,downstream_gene_variant,,ENST00000489148,;	1391	143	207	SUCCESS
WDR87	83889	.	GRCh37	19	38379360	38379360	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	21	169	0	ENST00000303868.5:c.4834G>C	p.Glu1612Gln	p.E1612Q	ENST00000303868	NM_031951.3	1612	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS46063.1	4834	MUTECT|MUSE	.	CTCTTCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Glu1651Gln,ENST00000447313,;WDR87,missense_variant,p.Glu1612Gln,ENST00000303868,;	5059	169	278	SUCCESS
PRKD2	25865	.	GRCh37	19	47192926	47192926	+	synonymous_variant	Silent	SNP	C	C	T	rs373224279	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	6	69	0	ENST00000291281.4:c.1839G>A	p.Leu613=	p.L613=	ENST00000291281		613	ctG/ctA	0	T:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS12689.1	1839	MUTECT|MUSE	.	CACTCCAGGTT	NONE	byCluster	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000552,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR22968,PROSITE_profiles:PS50011	.	T:0	ENSP00000393978	.	15/19	.	.	.	.	.	.	.	.	rs373224279	15/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,synonymous_variant,p.%3D,ENST00000595515,;PRKD2,synonymous_variant,p.%3D,ENST00000600194,;PRKD2,synonymous_variant,p.%3D,ENST00000601806,;PRKD2,synonymous_variant,p.%3D,ENST00000433867,;PRKD2,synonymous_variant,p.%3D,ENST00000291281,;RN7SL364P,upstream_gene_variant,,ENST00000473668,;PRKD2,upstream_gene_variant,,ENST00000593492,;PRKD2,synonymous_variant,p.%3D,ENST00000597390,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599464,;PRKD2,non_coding_transcript_exon_variant,,ENST00000602155,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;	2317	69	106	SUCCESS
LIG1	3978	.	GRCh37	19	48643354	48643354	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	7	79	0	ENST00000263274.7:c.961G>A	p.Ala321Thr	p.A321T	ENST00000263274	NM_000234.1	321	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12711.1	961	MUTECT|MUSE	.	CAGGGCCACCA	NONE	.	.	hmmpanther:PTHR10459:SF10,hmmpanther:PTHR10459,Gene3D:1x9nA01,Pfam_domain:PF04675,Superfamily_domains:0050884	.	.	ENSP00000263274	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000263274	Transcript	.	.	ENSG00000105486	6598	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.22)	.	DNLI1_HUMAN	LIG1	HGNC	Q76GR4_HUMAN,M0R1S4_HUMAN,M0QY71_HUMAN	.	UPI0000129656	SNV	LIG1,missense_variant,p.Ala253Thr,ENST00000536218,;LIG1,missense_variant,p.Ala290Thr,ENST00000427526,;LIG1,missense_variant,p.Ala321Thr,ENST00000263274,;LIG1,missense_variant,p.Ala289Thr,ENST00000542460,;LIG1,missense_variant,p.Ala320Thr,ENST00000594759,;LIG1,missense_variant,p.Ala321Thr,ENST00000601091,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;LIG1,upstream_gene_variant,,ENST00000597901,;LIG1,upstream_gene_variant,,ENST00000596672,;	1381	79	107	SUCCESS
GYS1	2997	.	GRCh37	19	49473108	49473108	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760423376	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	23	0	ENST00000323798.3:c.1814A>G	p.Tyr605Cys	p.Y605C	ENST00000323798	NM_002103.4	605	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS12747.1	1814	RADIA|MUTECT|MUSE|VARSCANS	.	ACATATAGTAC	NONE	.	.	hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF2,Pfam_domain:PF05693,Superfamily_domains:SSF53756	.	.	ENSP00000317904	.	15/16	.	.	.	.	.	.	.	.	rs760423376	15/16	PASS	ENST00000323798	Transcript	1	.	ENSG00000104812	4706	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GYS1_HUMAN	GYS1	HGNC	F5H1N8_HUMAN	.	UPI0000000C44	SNV	GYS1,missense_variant,p.Tyr238Cys,ENST00000544287,;GYS1,missense_variant,p.Tyr541Cys,ENST00000263276,;GYS1,missense_variant,p.Tyr605Cys,ENST00000323798,;GYS1,missense_variant,p.Tyr525Cys,ENST00000541188,;GYS1,downstream_gene_variant,,ENST00000540532,;FTL,downstream_gene_variant,,ENST00000331825,;GYS1,downstream_gene_variant,,ENST00000594220,;CTD-2639E6.9,downstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,downstream_gene_variant,,ENST00000594305,;GYS1,downstream_gene_variant,,ENST00000496048,;GYS1,downstream_gene_variant,,ENST00000472004,;	2011	23	34	SUCCESS
ZNF577	84765	.	GRCh37	19	52375982	52375982	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	110	0	ENST00000301399.5:c.1261G>A	p.Gly421Arg	p.G421R	ENST00000301399	NM_032679.2	421	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12842.2	1261	MUTECT|MUSE|VARSCANS	.	GGTTCCTGAGG	NONE	.	.	hmmpanther:PTHR24377:SF208,hmmpanther:PTHR24377	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.08)	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,missense_variant,p.Gly362Arg,ENST00000451628,;ZNF577,missense_variant,p.Gly421Arg,ENST00000458390,;ZNF577,missense_variant,p.Gly362Arg,ENST00000420592,;ZNF577,missense_variant,p.Gly421Arg,ENST00000301399,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	1627	110	140	SUCCESS
ZNF677	342926	.	GRCh37	19	53754810	53754810	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	21	80	0	ENST00000333952.4:c.-7G>A		p.*3*	ENST00000333952				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12861.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCTCTTC	NONE	.	.	.	.	.	ENSP00000334394	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,5_prime_UTR_variant,,ENST00000599012,;ZNF677,5_prime_UTR_variant,,ENST00000598806,;ZNF677,5_prime_UTR_variant,,ENST00000594681,;ZNF677,5_prime_UTR_variant,,ENST00000601413,;ZNF677,5_prime_UTR_variant,,ENST00000601828,;ZNF677,5_prime_UTR_variant,,ENST00000594517,;ZNF677,5_prime_UTR_variant,,ENST00000598513,;ZNF677,5_prime_UTR_variant,,ENST00000333952,;ZNF677,non_coding_transcript_exon_variant,,ENST00000595293,;	160	80	113	SUCCESS
ZNF525	170958	.	GRCh37	19	53885207	53885207	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	45	0	ENST00000355326.3:c.529A>G	p.Arg177Gly	p.R177G	ENST00000355326		177	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	.	1375	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTAGACTT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_profiles:PS50157	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.051)	.	tolerated(0.08)	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,missense_variant,p.Arg177Gly,ENST00000355326,;ZNF525,missense_variant,p.Arg459Gly,ENST00000474037,;ZNF525,missense_variant,p.Arg423Gly,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	1509	45	66	SUCCESS
TTYH1	57348	.	GRCh37	19	54947007	54947007	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	89	0	ENST00000376530.3:c.1269-1G>A		p.X423_splice	ENST00000376530	NM_001201461.1	423		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33106.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGTGACG	NONE	.	.	.	.	.	ENSP00000365714	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376531	Transcript	.	.	ENSG00000167614	13476	.	.	MODIFIER	11/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTYH1_HUMAN	TTYH1	HGNC	.	.	UPI0000141B60	SNV	TTYH1,splice_acceptor_variant,,ENST00000391739,;TTYH1,splice_acceptor_variant,,ENST00000376530,;TTYH1,splice_acceptor_variant,,ENST00000301194,;TTYH1,intron_variant,,ENST00000376531,;CTD-2587H19.3,downstream_gene_variant,,ENST00000597355,;AC008746.12,downstream_gene_variant,,ENST00000599382,;AC008746.3,upstream_gene_variant,,ENST00000457113,;CTD-2587H19.2,downstream_gene_variant,,ENST00000596631,;TTYH1,splice_acceptor_variant,,ENST00000476863,;TTYH1,splice_acceptor_variant,,ENST00000489425,;TTYH1,splice_acceptor_variant,,ENST00000492920,;TTYH1,upstream_gene_variant,,ENST00000467939,;TTYH1,splice_acceptor_variant,,ENST00000487134,;TTYH1,downstream_gene_variant,,ENST00000472198,;	.	89	85	SUCCESS
ZNF776	284309	.	GRCh37	19	58264991	58264991	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	30	133	1	ENST00000317178.5:c.493A>G	p.Ile165Val	p.I165V	ENST00000317178	NM_173632.3	165	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS12962.2	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTATCTTT	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF21	.	.	ENSP00000321812	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000317178	Transcript	.	.	ENSG00000152443	26765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.46)	.	ZN776_HUMAN	ZNF776	HGNC	B2RN90_HUMAN	.	UPI000022AA12	SNV	ZNF776,missense_variant,p.Ile165Val,ENST00000317178,;ZNF776,intron_variant,,ENST00000451849,;AC003006.7,downstream_gene_variant,,ENST00000594684,;ZNF776,downstream_gene_variant,,ENST00000431353,;ZNF776,upstream_gene_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,;	756	134	164	SUCCESS
ZNF606	80095	.	GRCh37	19	58511123	58511123	+	intron_variant	Intron	SNP	G	G	A	rs747447745	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	29	28	0	ENST00000341164.4:c.177+53C>T		p.*59*	ENST00000341164	NM_025027.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12968.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGACCAG	NONE	byFrequency	.	.	.	.	ENSP00000343617	.	.	.	.	.	.	.	.	.	.	rs747447745	.	PASS	ENST00000341164	Transcript	.	.	ENSG00000166704	25879	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN606_HUMAN	ZNF606	HGNC	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN	.	UPI000013C35B	SNV	ZNF606,3_prime_UTR_variant,,ENST00000547828,;ZNF606,3_prime_UTR_variant,,ENST00000547121,;ZNF606,intron_variant,,ENST00000341164,;ZNF606,intron_variant,,ENST00000536132,;ZNF606,intron_variant,,ENST00000551380,;CTD-2368P22.1,upstream_gene_variant,,ENST00000553254,;CTD-2368P22.1,upstream_gene_variant,,ENST00000547364,;ZNF606,downstream_gene_variant,,ENST00000552184,;CTD-2368P22.1,upstream_gene_variant,,ENST00000550135,;CTD-2368P22.1,upstream_gene_variant,,ENST00000546949,;ZNF606,downstream_gene_variant,,ENST00000546715,;ZNF606,intron_variant,,ENST00000552579,;ZNF606,intron_variant,,ENST00000550599,;CTD-2368P22.1,upstream_gene_variant,,ENST00000546956,;CTD-2368P22.1,upstream_gene_variant,,ENST00000313957,;ZNF606,downstream_gene_variant,,ENST00000550560,;	.	28	48	SUCCESS
DENND1C	79958	.	GRCh37	19	6481718	6481718	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	133	173	1	ENST00000381480.2:c.-12C>A		p.*4*	ENST00000381480	NM_024898.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45938.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGGCCAG	NONE	.	.	.	.	.	ENSP00000370889	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000381480	Transcript	.	.	ENSG00000205744	26225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN1C_HUMAN	DENND1C	HGNC	K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN	.	UPI000007469C	SNV	DENND1C,5_prime_UTR_variant,,ENST00000590173,;DENND1C,5_prime_UTR_variant,,ENST00000381480,;DENND1C,5_prime_UTR_variant,,ENST00000588421,;DENND1C,5_prime_UTR_variant,,ENST00000543576,;DENND1C,intron_variant,,ENST00000590473,;DENND1C,non_coding_transcript_exon_variant,,ENST00000591030,;DENND1C,5_prime_UTR_variant,,ENST00000586046,;DENND1C,non_coding_transcript_exon_variant,,ENST00000592543,;DENND1C,upstream_gene_variant,,ENST00000589491,;DENND1C,upstream_gene_variant,,ENST00000590867,;DENND1C,upstream_gene_variant,,ENST00000588988,;	102	174	217	SUCCESS
CLEC4G	339390	.	GRCh37	19	7795687	7795687	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	22	0	ENST00000328853.5:c.342G>C	p.Ala114=	p.A114=	ENST00000328853	NM_001244856.1	114	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS12185.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTCGCCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF206	.	.	ENSP00000327599	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000328853	Transcript	.	.	ENSG00000182566	24591	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC4G_HUMAN	CLEC4G	HGNC	Q08G24_HUMAN	.	UPI000004C65D	SNV	CLEC4G,synonymous_variant,p.%3D,ENST00000328853,;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;	411	22	35	SUCCESS
ZNF561	93134	.	GRCh37	19	9721732	9721732	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	90	0	ENST00000302851.3:c.605G>A	p.Cys202Tyr	p.C202Y	ENST00000302851	NM_152289.2	202	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS12216.2	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACATTCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF11,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000303915	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000302851	Transcript	.	.	ENSG00000171469	28684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	tolerated(0.08)	.	ZN561_HUMAN	ZNF561	HGNC	F8WAU2_HUMAN,C9JQP3_HUMAN,C9J7U2_HUMAN,B4E2Q8_HUMAN,A8KAD9_HUMAN	.	UPI000037525C	SNV	ZNF561,missense_variant,p.Cys133Tyr,ENST00000424629,;ZNF561,missense_variant,p.Cys208Tyr,ENST00000444611,;ZNF561,missense_variant,p.Cys202Tyr,ENST00000302851,;ZNF561,missense_variant,p.Cys66Tyr,ENST00000354661,;ZNF561,3_prime_UTR_variant,,ENST00000326044,;ZNF561,non_coding_transcript_exon_variant,,ENST00000495503,;ZNF561,downstream_gene_variant,,ENST00000465974,;ZNF561,3_prime_UTR_variant,,ENST00000443819,;ZNF561,non_coding_transcript_exon_variant,,ENST00000494276,;ZNF561,intron_variant,,ENST00000444802,;ZNF561,downstream_gene_variant,,ENST00000483768,;ZNF561,downstream_gene_variant,,ENST00000457965,;	969	90	102	SUCCESS
VAV3	10451	.	GRCh37	1	108322109	108322109	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	18	131	0	ENST00000370056.4:c.327A>G	p.Ile109Met	p.I109M	ENST00000370056	NM_006113.4	109	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS785.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTATAAC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000359073	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.165)	.	tolerated(0.13)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Ile104Met,ENST00000490388,;VAV3,missense_variant,p.Ile44Met,ENST00000371846,;VAV3,missense_variant,p.Ile109Met,ENST00000370056,;VAV3,missense_variant,p.Ile109Met,ENST00000527011,;AL591042.1,upstream_gene_variant,,ENST00000579317,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000524574,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000530671,;	602	131	140	SUCCESS
MOV10	4343	.	GRCh37	1	113237434	113237434	+	synonymous_variant	Silent	SNP	G	G	A	rs754526699	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	52	242	0	ENST00000357443.2:c.1536G>A	p.Thr512=	p.T512=	ENST00000357443		512	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS853.1	1536	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACGGGCAC	NONE	byFrequency	.	hmmpanther:PTHR10887:SF326,hmmpanther:PTHR10887,Pfam_domain:PF13086,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000399797	.	10/21	.	.	.	.	.	.	.	.	rs754526699	10/21	PASS	ENST00000413052	Transcript	.	.	ENSG00000155363	7200	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MOV10_HUMAN	MOV10	HGNC	Q5JR04_HUMAN,B3KQ43_HUMAN	.	UPI000012FA84	SNV	MOV10,synonymous_variant,p.%3D,ENST00000369644,;MOV10,synonymous_variant,p.%3D,ENST00000357443,;MOV10,synonymous_variant,p.%3D,ENST00000369645,;MOV10,synonymous_variant,p.%3D,ENST00000413052,;RP11-426L16.3,intron_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,upstream_gene_variant,,ENST00000481711,;MOV10,upstream_gene_variant,,ENST00000495374,;MOV10,downstream_gene_variant,,ENST00000479858,;MOV10,upstream_gene_variant,,ENST00000490413,;MOV10,upstream_gene_variant,,ENST00000471160,;MOV10,upstream_gene_variant,,ENST00000482545,;MOV10,upstream_gene_variant,,ENST00000494319,;MOV10,upstream_gene_variant,,ENST00000488160,;	1926	242	223	SUCCESS
FAM63A	0	.	GRCh37	1	150978641	150978642	+	5_prime_UTR_variant	5'UTR	INS	-	-	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	165	15	123	0	ENST00000361738.6:c.-11dup		p.*4*	ENST00000361738	NM_001163258.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53361.1	.	INDELOCATOR|VARSCANI	.	TTTACATGTCT	NONE	.	.	.	.	.	ENSP00000354669	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000361738	Transcript	.	.	ENSG00000143409	25648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA63A_HUMAN	FAM63A	HGNC	.	.	UPI0001AE7915	insertion	FAM63A,5_prime_UTR_variant,,ENST00000361738,;FAM63A,intron_variant,,ENST00000312210,;FAM63A,intron_variant,,ENST00000493834,;FAM63A,intron_variant,,ENST00000361936,;PRUNE,upstream_gene_variant,,ENST00000431193,;PRUNE,upstream_gene_variant,,ENST00000368936,;PRUNE,upstream_gene_variant,,ENST00000368935,;PRUNE,upstream_gene_variant,,ENST00000368937,;PRUNE,upstream_gene_variant,,ENST00000271619,;PRUNE,upstream_gene_variant,,ENST00000271620,;PRUNE,upstream_gene_variant,,ENST00000450884,;FAM63A,intron_variant,,ENST00000470877,;PRUNE,upstream_gene_variant,,ENST00000475722,;PRUNE,upstream_gene_variant,,ENST00000462440,;PRUNE,upstream_gene_variant,,ENST00000467771,;	210-211	123	181	SUCCESS
COPA	1314	.	GRCh37	1	160303442	160303442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	143	102	0	ENST00000241704.7:c.337G>T	p.Asp113Tyr	p.D113Y	ENST00000241704	NM_004371.3	113	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS41424.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATCGGAGG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF003354,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000357048	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,missense_variant,p.Asp113Tyr,ENST00000368069,;COPA,missense_variant,p.Asp113Tyr,ENST00000241704,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;	415	102	210	SUCCESS
C1orf112	55732	.	GRCh37	1	169773232	169773232	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	18	129	0	ENST00000286031.6:c.329A>T	p.Tyr110Phe	p.Y110F	ENST00000286031	NM_018186.2	110	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS1285.1	329	MUSE|VARSCANS	.	TGTGTATTCTG	NONE	.	.	hmmpanther:PTHR16071,hmmpanther:PTHR16071:SF1	.	.	ENSP00000286031	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000286031	Transcript	.	.	ENSG00000000460	25565	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CA112_HUMAN	C1orf112	HGNC	.	.	UPI000006E467	SNV	C1orf112,missense_variant,p.Tyr110Phe,ENST00000286031,;C1orf112,missense_variant,p.Tyr168Phe,ENST00000456684,;C1orf112,missense_variant,p.Tyr110Phe,ENST00000359326,;C1orf112,missense_variant,p.Tyr81Phe,ENST00000413811,;C1orf112,non_coding_transcript_exon_variant,,ENST00000481744,;C1orf112,non_coding_transcript_exon_variant,,ENST00000472795,;C1orf112,intron_variant,,ENST00000459772,;C1orf112,intron_variant,,ENST00000466580,;C1orf112,intron_variant,,ENST00000496973,;C1orf112,intron_variant,,ENST00000498289,;	1029	129	213	SUCCESS
ASTN1	460	.	GRCh37	1	176913059	176913059	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs775289022	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	10	82	0	ENST00000361833.2:c.2345C>A	p.Ser782Ter	p.S782*	ENST00000361833		782	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS1319.1	2345	MUTECT|MUSE	.	GCTCCGAGATC	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	14/23	.	.	.	.	.	.	.	.	rs775289022,COSM1183824	14/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,stop_gained,p.Ser790Ter,ENST00000367654,;ASTN1,stop_gained,p.Ser782Ter,ENST00000424564,;ASTN1,stop_gained,p.Ser782Ter,ENST00000361833,;ASTN1,stop_gained,p.Ser782Ter,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	2359	82	163	SUCCESS
TDRD5	163589	.	GRCh37	1	179562710	179562710	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	268	35	169	1	ENST00000294848.8:c.348A>G	p.Arg116=	p.R116=	ENST00000294848	NM_173533.3	116	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS55663.1	348	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGATCTCA	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;	598	170	303	SUCCESS
HMCN1	83872	.	GRCh37	1	186045722	186045722	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	19	65	0	ENST00000271588.4:c.8453T>C	p.Leu2818Pro	p.L2818P	ENST00000271588	NM_031935.2	2818	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS30956.1	8453	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTGACCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	54/107	.	.	.	.	.	.	.	.	.	54/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Leu2818Pro,ENST00000367492,;HMCN1,missense_variant,p.Leu2818Pro,ENST00000271588,;	8682	65	133	SUCCESS
HMCN1	83872	.	GRCh37	1	186135944	186135944	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	13	94	0	ENST00000271588.4:c.15444T>C	p.Ile5148=	p.I5148=	ENST00000271588	NM_031935.2	5148	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS30956.1	15444	MUTECT|MUSE|VARSCANS	.	GATATTGATGA	NONE	.	.	hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000271588	.	100/107	.	.	.	.	.	.	.	.	.	100/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;HMCN1,upstream_gene_variant,,ENST00000414277,;HMCN1,intron_variant,,ENST00000475585,;	15673	94	168	SUCCESS
UBR4	23352	.	GRCh37	1	19472600	19472600	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	125	0	ENST00000375254.3:c.7805-173A>G		p.*2602*	ENST00000375254	NM_020765.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS189.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGTCTGGG	NONE	.	.	.	.	.	ENSP00000364403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODIFIER	52/105	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Asp217Gly,ENST00000425413,;UBR4,missense_variant,p.Asp2602Gly,ENST00000375217,;UBR4,intron_variant,,ENST00000417040,;UBR4,intron_variant,,ENST00000375254,;UBR4,intron_variant,,ENST00000375267,;UBR4,intron_variant,,ENST00000375226,;UBR4,non_coding_transcript_exon_variant,,ENST00000465036,;UBR4,downstream_gene_variant,,ENST00000419533,;	.	125	121	SUCCESS
KIF14	9928	.	GRCh37	1	200558357	200558357	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	9	68	0	ENST00000367350.4:c.3102G>A	p.Leu1034=	p.L1034=	ENST00000367350	NM_014875.2	1034	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30963.1	3102	MUTECT|MUSE	.	GTAGCCAATGT	NONE	.	.	hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115	.	.	ENSP00000356319	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,synonymous_variant,p.%3D,ENST00000367350,;	3541	68	121	SUCCESS
ADIPOR1	51094	.	GRCh37	1	202920181	202920181	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	86	0	ENST00000340990.5:c.18A>T	p.Gly6=	p.G6=	ENST00000340990	NM_015999.4	6	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1430.1	18	MUTECT|MUSE	.	ACAGATCCTTT	NONE	.	.	hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF40	.	.	ENSP00000341785	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000340990	Transcript	.	.	ENSG00000159346	24040	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADR1_HUMAN	ADIPOR1	HGNC	C9JNM5_HUMAN,C9J0W7_HUMAN	.	UPI000003779A	SNV	ADIPOR1,synonymous_variant,p.%3D,ENST00000436244,;ADIPOR1,synonymous_variant,p.%3D,ENST00000367254,;ADIPOR1,synonymous_variant,p.%3D,ENST00000340990,;ADIPOR1,synonymous_variant,p.%3D,ENST00000426229,;ADIPOR1,synonymous_variant,p.%3D,ENST00000417068,;	317	86	146	SUCCESS
TMEM81	388730	.	GRCh37	1	205053415	205053415	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	298	19	177	0	ENST00000367167.3:c.34A>T	p.Ser12Cys	p.S12C	ENST00000367167	NM_203376.1	12	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1450.1	34	MUTECT|MUSE	.	CAGGCTCCCAA	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000356135	.	1/1	.	.	.	.	.	.	.	.	COSM354105	1/1	PASS	ENST00000367167	Transcript	.	.	ENSG00000174529	32349	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.794)	.	tolerated(0.12)	1	TMM81_HUMAN	TMEM81	HGNC	.	.	UPI0000199A1E	SNV	TMEM81,missense_variant,p.Ser12Cys,ENST00000367167,;RBBP5,downstream_gene_variant,,ENST00000264515,;RBBP5,downstream_gene_variant,,ENST00000367164,;	231	177	317	SUCCESS
CR1L	1379	.	GRCh37	1	207870917	207870917	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	645	42	403	0	ENST00000508064.2:c.932G>C	p.Gly311Ala	p.G311A	ENST00000508064	NM_175710.1	311	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS44310.1	932	MUTECT|MUSE	.	ACCCGGGCAGG	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923	.	.	ENSP00000421736	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000508064	Transcript	.	.	ENSG00000197721	2335	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CR1L_HUMAN	CR1L	HGNC	.	.	UPI0000DD792A	SNV	CR1L,missense_variant,p.Gly311Ala,ENST00000508064,;CR1L,intron_variant,,ENST00000530905,;CR1L,missense_variant,p.Gly255Ala,ENST00000294997,;	992	403	687	SUCCESS
VASH2	79805	.	GRCh37	1	213125028	213125028	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	55	97	0	ENST00000517399.1:c.144G>A	p.Leu48=	p.L48=	ENST00000517399		48	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1511.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGTTCCA	NONE	.	.	Pfam_domain:PF14822,hmmpanther:PTHR15750,hmmpanther:PTHR15750:SF4	.	.	ENSP00000355932	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000366965	Transcript	.	.	ENSG00000143494	25723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VASH2_HUMAN	VASH2	HGNC	C9JY36_HUMAN	.	UPI000019273A	SNV	VASH2,synonymous_variant,p.%3D,ENST00000517399,;VASH2,synonymous_variant,p.%3D,ENST00000366965,;VASH2,5_prime_UTR_variant,,ENST00000366964,;VASH2,5_prime_UTR_variant,,ENST00000490792,;VASH2,5_prime_UTR_variant,,ENST00000366966,;VASH2,5_prime_UTR_variant,,ENST00000366968,;VASH2,intron_variant,,ENST00000366967,;VASH2,non_coding_transcript_exon_variant,,ENST00000493155,;VASH2,intron_variant,,ENST00000271776,;	454	97	153	SUCCESS
BPNT1	10380	.	GRCh37	1	220232311	220232311	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	20	83	0	ENST00000322067.7:c.802A>C	p.Asn268His	p.N268H	ENST00000322067	NM_006085.4	268	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS41469.1	802	RADIA|MUTECT|MUSE|VARSCANS	.	AACATTCCCAT	NONE	.	.	hmmpanther:PTHR20854:SF5,hmmpanther:PTHR20854,Gene3D:3.40.190.80,Pfam_domain:PF00459,Superfamily_domains:SSF56655	.	.	ENSP00000446828	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000469520	Transcript	.	.	ENSG00000162813	1096	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	deleterious(0.03)	.	BPNT1_HUMAN	BPNT1	HGNC	F8VVW8_HUMAN,F8VRY7_HUMAN,B4DPS5_HUMAN	.	UPI000007212C	SNV	BPNT1,missense_variant,p.Asn283His,ENST00000354807,;BPNT1,missense_variant,p.Asn213His,ENST00000544404,;BPNT1,missense_variant,p.Asn268His,ENST00000469520,;BPNT1,missense_variant,p.Asn268His,ENST00000322067,;BPNT1,missense_variant,p.Asn232His,ENST00000414869,;BPNT1,downstream_gene_variant,,ENST00000480959,;BPNT1,downstream_gene_variant,,ENST00000463953,;BPNT1,downstream_gene_variant,,ENST00000498791,;BPNT1,downstream_gene_variant,,ENST00000482136,;	1252	83	140	SUCCESS
HLX	3142	.	GRCh37	1	221057792	221057792	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	247	65	158	0	ENST00000366903.6:c.1213A>G	p.Thr405Ala	p.T405A	ENST00000366903	NM_021958.3	405	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1527.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAACAGTT	NONE	.	.	hmmpanther:PTHR24331:SF2,hmmpanther:PTHR24331	.	.	ENSP00000355870	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366903	Transcript	.	.	ENSG00000136630	4978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0.03)	.	HLX_HUMAN	HLX	HGNC	F8VWZ5_HUMAN	.	UPI000006D76F	SNV	HLX,missense_variant,p.Thr191Ala,ENST00000549319,;HLX,missense_variant,p.Thr138Ala,ENST00000427693,;HLX,missense_variant,p.Thr405Ala,ENST00000366903,;HLA-AS1,upstream_gene_variant,,ENST00000552026,;	2714	158	313	SUCCESS
ITPKB	3707	.	GRCh37	1	226923289	226923289	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	336	26	205	1	ENST00000272117.3:c.1871A>G	p.Glu624Gly	p.E624G	ENST00000272117		624	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS1555.1	1871	MUTECT|MUSE	.	TGCGCTCAGGG	NONE	.	.	hmmpanther:PTHR12400:SF4,hmmpanther:PTHR12400	.	.	ENSP00000411152	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,missense_variant,p.Glu624Gly,ENST00000366784,;ITPKB,missense_variant,p.Glu624Gly,ENST00000272117,;ITPKB,missense_variant,p.Glu624Gly,ENST00000429204,;	2199	206	362	SUCCESS
DISC1	27185	.	GRCh37	1	231829938	231829938	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	46	0	ENST00000439617.2:c.434A>G	p.Gln145Arg	p.Q145R	ENST00000439617	NM_001164540.1	145	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS53482.1	434	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAAGAGT	NONE	.	.	hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332	.	.	ENSP00000355593	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.43)	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,missense_variant,p.Gln145Arg,ENST00000539444,;DISC1,missense_variant,p.Gln145Arg,ENST00000439617,;DISC1,missense_variant,p.Gln145Arg,ENST00000317586,;DISC1,missense_variant,p.Gln145Arg,ENST00000535983,;DISC1,missense_variant,p.Gln145Arg,ENST00000602281,;DISC1,missense_variant,p.Gln145Arg,ENST00000366633,;DISC1,missense_variant,p.Gln145Arg,ENST00000366636,;DISC1,missense_variant,p.Gln145Arg,ENST00000537876,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,intron_variant,,ENST00000602873,;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,missense_variant,p.Gln145Arg,ENST00000295051,;DISC1,missense_variant,p.Gln145Arg,ENST00000602822,;DISC1,missense_variant,p.Gln145Arg,ENST00000366632,;DISC1,missense_variant,p.Gln145Arg,ENST00000602713,;DISC1,missense_variant,p.Gln145Arg,ENST00000602700,;DISC1,missense_variant,p.Gln145Arg,ENST00000535944,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	487	46	75	SUCCESS
ID3	3399	.	GRCh37	1	23885468	23885468	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	38	82	0	ENST00000374561.5:c.343A>C	p.Arg115=	p.R115=	ENST00000374561	NM_002167.4	115	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS237.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTTTTGT	NONE	.	.	hmmpanther:PTHR11723,hmmpanther:PTHR11723:SF16	.	.	ENSP00000363689	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000374561	Transcript	.	.	ENSG00000117318	5362	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID3_HUMAN	ID3	HGNC	.	.	UPI000016A132	SNV	ID3,synonymous_variant,p.%3D,ENST00000374561,;ID3,non_coding_transcript_exon_variant,,ENST00000486541,;ID3,non_coding_transcript_exon_variant,,ENST00000463312,;	711	82	66	SUCCESS
C1orf101	0	.	GRCh37	1	244643048	244643048	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	37	91	0	ENST00000366534.4:c.288A>T	p.Glu96Asp	p.E96D	ENST00000366534	NM_001130957.1	96	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS44340.1	288	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAAAGTTC	NONE	.	.	.	.	.	ENSP00000355492	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000366534	Transcript	.	.	ENSG00000179397	28491	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	CA101_HUMAN	C1orf101	HGNC	.	.	UPI00004701CD	SNV	C1orf101,missense_variant,p.Glu86Asp,ENST00000428042,;C1orf101,missense_variant,p.Glu96Asp,ENST00000366533,;C1orf101,missense_variant,p.Glu96Asp,ENST00000366534,;C1orf101,5_prime_UTR_variant,,ENST00000366531,;C1orf101,non_coding_transcript_exon_variant,,ENST00000460986,;C1orf101,non_coding_transcript_exon_variant,,ENST00000478554,;C1orf101,non_coding_transcript_exon_variant,,ENST00000464170,;C1orf101,non_coding_transcript_exon_variant,,ENST00000473875,;	342	91	171	SUCCESS
OR2G6	391211	.	GRCh37	1	248685500	248685500	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs767331567	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	17	132	0	ENST00000343414.4:c.553A>C	p.Ile185Leu	p.I185L	ENST00000343414	NM_001013355.1	185	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS31119.1	553	MUTECT|MUSE	.	TGCTCATCAAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000341291	.	1/1	.	.	.	.	.	.	.	.	rs767331567	1/1	PASS	ENST00000343414	Transcript	.	.	ENSG00000188558	27019	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.074)	.	tolerated(0.95)	.	OR2G6_HUMAN	OR2G6	HGNC	.	.	UPI0000237253	SNV	OR2G6,missense_variant,p.Ile185Leu,ENST00000343414,;	585	132	232	SUCCESS
PPP1R8	5511	.	GRCh37	1	28167686	28167686	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	28	205	0	ENST00000311772.5:c.433G>A	p.Gly145Arg	p.G145R	ENST00000311772	NM_014110.4	145	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS311.1	433	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTGGAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23308	.	.	ENSP00000311677	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000311772	Transcript	.	.	ENSG00000117751	9296	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.49)	.	PP1R8_HUMAN	PPP1R8	HGNC	Q6ICT4_HUMAN	.	UPI00001320FD	SNV	PPP1R8,missense_variant,p.Gly145Arg,ENST00000311772,;PPP1R8,missense_variant,p.Gly3Arg,ENST00000373931,;PPP1R8,missense_variant,p.Gly3Arg,ENST00000431586,;PPP1R8,intron_variant,,ENST00000236412,;	491	205	133	SUCCESS
TRIT1	54802	.	GRCh37	1	40310251	40310251	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	432	134	419	0	ENST00000316891.5:c.1068del	p.Glu357SerfsTer25	p.E357Sfs*25	ENST00000316891	NM_017646.4	356	gaA/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS30681.1	1068	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTCTTCCCA	NONE	.	.	HAMAP:MF_00185,hmmpanther:PTHR11088,hmmpanther:PTHR11088:SF25	.	.	ENSP00000321810	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000316891	Transcript	.	.	ENSG00000043514	20286	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MOD5_HUMAN	TRIT1	HGNC	Q3T7C7_HUMAN,Q3T7B8_HUMAN,Q3T7B4_HUMAN	.	UPI000006E2FB	deletion	TRIT1,frameshift_variant,p.Glu111SerfsTer25,ENST00000545233,;TRIT1,frameshift_variant,p.Glu331SerfsTer25,ENST00000372818,;TRIT1,frameshift_variant,p.Glu275SerfsTer25,ENST00000441669,;TRIT1,frameshift_variant,p.Glu53SerfsTer25,ENST00000537440,;TRIT1,frameshift_variant,p.Glu53SerfsTer25,ENST00000537223,;TRIT1,frameshift_variant,p.Glu357SerfsTer25,ENST00000316891,;TRIT1,5_prime_UTR_variant,,ENST00000541099,;TRIT1,non_coding_transcript_exon_variant,,ENST00000465417,;TRIT1,non_coding_transcript_exon_variant,,ENST00000491865,;TRIT1,3_prime_UTR_variant,,ENST00000492612,;TRIT1,3_prime_UTR_variant,,ENST00000495175,;TRIT1,intron_variant,,ENST00000462797,;TRIT1,downstream_gene_variant,,ENST00000469476,;TRIT1,downstream_gene_variant,,ENST00000486825,;TRIT1,downstream_gene_variant,,ENST00000467774,;TRIT1,downstream_gene_variant,,ENST00000489945,;	1083	419	566	SUCCESS
STIL	6491	.	GRCh37	1	47746094	47746131	+	frameshift_variant	Frame_Shift_Del	DEL	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	126	0	ENST00000360380.3:c.1999_2036del	p.Pro667TyrfsTer2	p.P667Yfs*2	ENST00000360380	NM_001282936.1	667	CCTCAGGGAGATATGGGCAGTTGTTCTCCCCACAGCAAt/t	0	.	.	.	.	.	-	PQGDMGSCSPHSN/X	protein_coding	YES	CCDS41329.1	1999-2036	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAATATTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGGTCTCA	CODON|p.S678N|c.2033G>A|3	.	.	hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0	.	.	ENSP00000360944	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	deletion	STIL,frameshift_variant,p.Pro667TyrfsTer2,ENST00000337817,;STIL,frameshift_variant,p.Pro667TyrfsTer2,ENST00000396221,;STIL,frameshift_variant,p.Pro667TyrfsTer2,ENST00000243182,;STIL,frameshift_variant,p.Pro620TyrfsTer2,ENST00000447475,;STIL,frameshift_variant,p.Pro667TyrfsTer2,ENST00000371877,;STIL,frameshift_variant,p.Pro667TyrfsTer2,ENST00000360380,;STIL,intron_variant,,ENST00000436811,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;	2147-2184	126	109	SUCCESS
TTC39A	22996	.	GRCh37	1	51761628	51761628	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	24	0	ENST00000447632.2:c.1253+123C>T		p.*418*	ENST00000447632				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44143.1	.	MUTECT|MUSE	.	TGGGGGCAGGG	NONE	.	.	.	.	.	ENSP00000406144	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000413473	Transcript	.	.	ENSG00000085831	18657	.	.	MODIFIER	13/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TT39A_HUMAN	TTC39A	HGNC	E9PHX9_HUMAN,E9PAZ4_HUMAN,D3DQ30_HUMAN	.	UPI0000252149	SNV	TTC39A,3_prime_UTR_variant,,ENST00000371747,;TTC39A,intron_variant,,ENST00000447632,;TTC39A,intron_variant,,ENST00000413473,;TTC39A,intron_variant,,ENST00000525906,;TTC39A,intron_variant,,ENST00000262675,;TTC39A,intron_variant,,ENST00000530004,;TTC39A,intron_variant,,ENST00000451380,;TTC39A,intron_variant,,ENST00000371750,;TTC39A,downstream_gene_variant,,ENST00000262676,;TTC39A,intron_variant,,ENST00000431927,;TTC39A,intron_variant,,ENST00000534098,;	.	24	32	SUCCESS
PTGER3	5733	.	GRCh37	1	71513044	71513044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	67	246	0	ENST00000306666.5:c.217G>T	p.Val73Leu	p.V73L	ENST00000306666	NM_198719.1	73	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS655.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACACGAGCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01788,Prints_domain:PR00237,Prints_domain:PR00582	.	.	ENSP00000349003	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.96)	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,missense_variant,p.Val73Leu,ENST00000370932,;PTGER3,missense_variant,p.Val73Leu,ENST00000306666,;PTGER3,missense_variant,p.Val73Leu,ENST00000351052,;PTGER3,missense_variant,p.Val73Leu,ENST00000354608,;PTGER3,missense_variant,p.Val73Leu,ENST00000356595,;PTGER3,missense_variant,p.Val73Leu,ENST00000370924,;PTGER3,missense_variant,p.Val73Leu,ENST00000460330,;PTGER3,missense_variant,p.Val73Leu,ENST00000370931,;PTGER3,missense_variant,p.Val73Leu,ENST00000414819,;ZRANB2-AS1,upstream_gene_variant,,ENST00000450461,;PTGER3,missense_variant,p.Val73Leu,ENST00000361210,;PTGER3,missense_variant,p.Val73Leu,ENST00000479353,;PTGER3,missense_variant,p.Val73Leu,ENST00000497146,;	428	246	235	SUCCESS
ZRANB2	9406	.	GRCh37	1	71538233	71538233	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	389	12	411	1	ENST00000370920.3:c.302-2A>G		p.X101_splice	ENST00000370920	NM_203350.2	101		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS659.1	.	MUTECT|MUSE	.	TATCCTTAAAA	NONE	.	.	.	.	.	ENSP00000359958	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370920	Transcript	.	.	ENSG00000132485	13058	.	.	HIGH	4/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZRAB2_HUMAN	ZRANB2	HGNC	.	.	UPI000013CE63	SNV	ZRANB2,splice_acceptor_variant,,ENST00000370920,;ZRANB2,splice_acceptor_variant,,ENST00000254821,;MIR186,upstream_gene_variant,,ENST00000384988,;ZRANB2,upstream_gene_variant,,ENST00000487510,;	.	412	401	SUCCESS
NEGR1	257194	.	GRCh37	1	72748049	72748049	+	synonymous_variant	Silent	SNP	C	C	A	rs1220186249	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	307	25	341	0	ENST00000357731.5:c.129G>T	p.Ala43=	p.A43=	ENST00000357731	NM_173808.2	43	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS661.1	129	MUTECT|MUSE	.	ACGGCCGCCCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF11,hmmpanther:PTHR19831	.	.	ENSP00000350364	.	1/7	.	.	.	.	.	.	.	.	COSM4009821	1/7	PASS	ENST00000357731	Transcript	.	.	ENSG00000172260	17302	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	NEGR1_HUMAN	NEGR1	HGNC	Q8N440_HUMAN,Q68DZ8_HUMAN	.	UPI00000477EE	SNV	NEGR1,synonymous_variant,p.%3D,ENST00000357731,;NEGR1,synonymous_variant,p.%3D,ENST00000434200,;	369	341	333	SUCCESS
LPHN2	0	.	GRCh37	1	82456669	82456669	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	95	0	ENST00000370717.2:c.4265A>G	p.Tyr1422Cys	p.Y1422C	ENST00000370717		1422	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS689.1	4052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTATAAAA	NONE	.	.	Pfam_domain:PF02354	.	.	ENSP00000322270	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious_low_confidence(0.01)	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,missense_variant,p.Tyr1364Cys,ENST00000370730,;LPHN2,missense_variant,p.Tyr1364Cys,ENST00000335786,;LPHN2,missense_variant,p.Tyr1422Cys,ENST00000370717,;LPHN2,missense_variant,p.Tyr1379Cys,ENST00000370727,;LPHN2,missense_variant,p.Tyr1422Cys,ENST00000370725,;LPHN2,missense_variant,p.Tyr1351Cys,ENST00000319517,;LPHN2,missense_variant,p.Tyr1379Cys,ENST00000271029,;LPHN2,missense_variant,p.Tyr1407Cys,ENST00000370728,;LPHN2,missense_variant,p.Tyr1351Cys,ENST00000359929,;LPHN2,missense_variant,p.Tyr1409Cys,ENST00000370723,;LPHN2,missense_variant,p.Tyr419Cys,ENST00000402328,;LPHN2,missense_variant,p.Tyr1332Cys,ENST00000370721,;LPHN2,missense_variant,p.Tyr1409Cys,ENST00000394879,;LPHN2,missense_variant,p.Tyr1299Cys,ENST00000449420,;LPHN2,3_prime_UTR_variant,,ENST00000370713,;LPHN2,3_prime_UTR_variant,,ENST00000370715,;LPHN2,non_coding_transcript_exon_variant,,ENST00000469377,;LPHN2,downstream_gene_variant,,ENST00000472424,;LPHN2,downstream_gene_variant,,ENST00000464775,;LPHN2,downstream_gene_variant,,ENST00000464551,;	4268	95	107	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94639693	94639693	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	97	0	ENST00000260526.6:c.3518T>G	p.Ile1173Ser	p.I1173S	ENST00000260526	NM_004815.3	1173	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS748.1	3518	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGATGGGA	NONE	.	.	hmmpanther:PTHR15228:SF7,hmmpanther:PTHR15228	.	.	ENSP00000260526	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.86)	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,missense_variant,p.Ile1173Ser,ENST00000260526,;ARHGAP29,downstream_gene_variant,,ENST00000482481,;ARHGAP29,intron_variant,,ENST00000552844,;	3701	97	84	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20505080	20505080	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	55	0	ENST00000202677.7:c.3870C>T	p.Ala1290=	p.A1290=	ENST00000202677	NM_020343.3	1290	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46584.1	3870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGGCCGA	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Superfamily_domains:SSF48371	.	.	ENSP00000202677	.	30/40	.	.	.	.	.	.	.	.	.	30/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,synonymous_variant,p.%3D,ENST00000202677,;RALGAPA2,synonymous_variant,p.%3D,ENST00000430436,;	3878	55	26	SUCCESS
DEFB116	245930	.	GRCh37	20	29891100	29891100	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	9	109	0	ENST00000400549.1:c.224T>C	p.Ile75Thr	p.I75T	ENST00000400549	NM_001037731.1	75	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS42860.1	224	MUTECT|MUSE	.	TGGTTATTTTC	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF17	.	.	ENSP00000383396	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400549	Transcript	.	.	ENSG00000215545	18097	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.16)	.	DB116_HUMAN	DEFB116	HGNC	.	.	UPI00005E443B	SNV	DEFB116,missense_variant,p.Ile75Thr,ENST00000400549,;	224	109	119	SUCCESS
SUN5	140732	.	GRCh37	20	31573549	31573549	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	25	102	0	ENST00000356173.3:c.890T>C	p.Val297Ala	p.V297A	ENST00000356173	NM_080675.3	297	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS13209.1	890	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGACGAAG	NONE	.	.	PROSITE_profiles:PS51469,hmmpanther:PTHR12911:SF19,hmmpanther:PTHR12911,Pfam_domain:PF07738	.	.	ENSP00000348496	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000356173	Transcript	.	.	ENSG00000167098	16252	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.249)	.	tolerated(0.7)	.	SUN5_HUMAN	SUN5	HGNC	.	.	UPI0000135D7C	SNV	SUN5,missense_variant,p.Val297Ala,ENST00000356173,;SUN5,missense_variant,p.Val272Ala,ENST00000375523,;	983	102	143	SUCCESS
BPIFA3	128861	.	GRCh37	20	31812207	31812207	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	18	90	0	ENST00000375454.3:c.325T>C	p.Ser109Pro	p.S109P	ENST00000375454	NM_178466.3	109	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS13216.2	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATCATTC	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF3,Pfam_domain:PF01273,Superfamily_domains:SSF55394	.	.	ENSP00000364603	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000375454	Transcript	.	.	ENSG00000131059	16204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	BPIA3_HUMAN	BPIFA3	HGNC	.	.	UPI00003E72D6	SNV	BPIFA3,missense_variant,p.Ser109Pro,ENST00000375454,;BPIFA3,intron_variant,,ENST00000375452,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;	535	90	101	SUCCESS
NEURL2	140825	.	GRCh37	20	44519838	44519838	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	86	0	ENST00000372518.4:c.-208A>C		p.*70*	ENST00000372518	NM_001278535.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13385.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCTACGAT	NONE	.	.	.	.	.	ENSP00000361562	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000372484	Transcript	1	.	ENSG00000064601	9251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTSA	HGNC	U3KQF1_HUMAN,U3KQ41_HUMAN,Q5JZG9_HUMAN,Q59EV6_HUMAN	.	UPI000022B4F7	SNV	CTSA,5_prime_UTR_variant,,ENST00000372484,;NEURL2,5_prime_UTR_variant,,ENST00000372518,;NEURL2,upstream_gene_variant,,ENST00000545238,;CTSA,upstream_gene_variant,,ENST00000354880,;CTSA,upstream_gene_variant,,ENST00000372459,;CTSA,upstream_gene_variant,,ENST00000419493,;CTSA,upstream_gene_variant,,ENST00000607482,;CTSA,upstream_gene_variant,,ENST00000191018,;SPATA25,upstream_gene_variant,,ENST00000372519,;RP3-337O18.9,downstream_gene_variant,,ENST00000607703,;CTSA,5_prime_UTR_variant,,ENST00000606788,;CTSA,upstream_gene_variant,,ENST00000480961,;CTSA,upstream_gene_variant,,ENST00000493522,;CTSA,upstream_gene_variant,,ENST00000606782,;CTSA,upstream_gene_variant,,ENST00000606394,;CTSA,upstream_gene_variant,,ENST00000485627,;CTSA,upstream_gene_variant,,ENST00000607841,;CTSA,upstream_gene_variant,,ENST00000607814,;CTSA,upstream_gene_variant,,ENST00000607212,;CTSA,upstream_gene_variant,,ENST00000606066,;	156	86	105	SUCCESS
GNAS	2778	.	GRCh37	20	57475206	57475206	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	10	0	ENST00000371085.3:c.257+1166T>G		p.*86*	ENST00000371085	NM_000516.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46622.1	.	MUTECT|MUSE	.	CTTAATTGGCA	NONE	.	.	.	.	.	ENSP00000360141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	MODIFIER	3/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,3_prime_UTR_variant,,ENST00000423897,;GNAS,3_prime_UTR_variant,,ENST00000338783,;GNAS,3_prime_UTR_variant,,ENST00000371081,;GNAS,3_prime_UTR_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000349036,;GNAS,intron_variant,,ENST00000371085,;GNAS,intron_variant,,ENST00000453292,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000603546,;GNAS,intron_variant,,ENST00000450130,;GNAS,intron_variant,,ENST00000306090,;GNAS,intron_variant,,ENST00000604005,;GNAS,intron_variant,,ENST00000371075,;GNAS,intron_variant,,ENST00000354359,;GNAS,intron_variant,,ENST00000371095,;GNAS,intron_variant,,ENST00000371102,;GNAS,intron_variant,,ENST00000265620,;GNAS,intron_variant,,ENST00000371100,;GNAS,non_coding_transcript_exon_variant,,ENST00000484504,;GNAS,non_coding_transcript_exon_variant,,ENST00000493744,;GNAS,non_coding_transcript_exon_variant,,ENST00000464960,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,non_coding_transcript_exon_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000477931,;GNAS,intron_variant,,ENST00000481039,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000461152,;GNAS,intron_variant,,ENST00000485673,;GNAS,intron_variant,,ENST00000467321,;GNAS,intron_variant,,ENST00000469431,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000480232,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000464788,;GNAS,intron_variant,,ENST00000488652,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000478585,;GNAS,intron_variant,,ENST00000488546,;GNAS,intron_variant,,ENST00000470512,;GNAS,intron_variant,,ENST00000492907,;GNAS,intron_variant,,ENST00000468895,;GNAS,intron_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000480975,;GNAS,intron_variant,,ENST00000476935,;GNAS,intron_variant,,ENST00000467227,;GNAS,upstream_gene_variant,,ENST00000493958,;GNAS,upstream_gene_variant,,ENST00000494081,;GNAS,intron_variant,,ENST00000487862,;GNAS,intron_variant,,ENST00000496934,;GNAS,intron_variant,,ENST00000483387,;GNAS,upstream_gene_variant,,ENST00000476196,;GNAS,upstream_gene_variant,,ENST00000487981,;	.	10	14	SUCCESS
JAM2	58494	.	GRCh37	21	27086971	27086971	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	494	88	597	0	ENST00000480456.1:c.884C>G	p.Ser295Cys	p.S295C	ENST00000480456	NM_001270407.1	295	tCc/tGc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58787.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCCTTTA	NONE	.	86	.	.	.	ENSP00000383376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400532	Transcript	.	.	ENSG00000154721	14686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JAM2_HUMAN	JAM2	HGNC	.	.	UPI0000035970	SNV	JAM2,missense_variant,p.Ser295Cys,ENST00000312957,;JAM2,missense_variant,p.Ser295Cys,ENST00000480456,;JAM2,missense_variant,p.Ser259Cys,ENST00000425221,;JAM2,downstream_gene_variant,,ENST00000400532,;ATP5J,downstream_gene_variant,,ENST00000400099,;JAM2,non_coding_transcript_exon_variant,,ENST00000477351,;JAM2,3_prime_UTR_variant,,ENST00000460679,;JAM2,non_coding_transcript_exon_variant,,ENST00000471689,;JAM2,downstream_gene_variant,,ENST00000492962,;	.	597	582	SUCCESS
PI4KA	5297	.	GRCh37	22	21161689	21161689	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1333881705	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	93	1	ENST00000255882.6:c.1129A>G	p.Met377Val	p.M377V	ENST00000255882	NM_058004.3	377	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS33603.2	1129	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATGGTCA	NONE	.	.	Superfamily_domains:SSF48371	.	.	ENSP00000255882	.	10/55	.	.	.	.	.	.	.	.	.	10/55	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.34)	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,missense_variant,p.Met319Val,ENST00000572273,;PI4KA,missense_variant,p.Met377Val,ENST00000255882,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485963,;	1216	94	89	SUCCESS
SFI1	9814	.	GRCh37	22	32003949	32003949	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	60	0	ENST00000400288.2:c.2184G>A	p.Val728=	p.V728=	ENST00000400288	NM_001007467.2	728	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43004.1	2184	MUTECT|MUSE	.	GCTGTGTCAGT	NONE	.	.	hmmpanther:PTHR22028:SF2,hmmpanther:PTHR22028	.	.	ENSP00000383145	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000400288	Transcript	.	.	ENSG00000198089	29064	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFI1_HUMAN	SFI1	HGNC	.	.	UPI00004703B1	SNV	SFI1,synonymous_variant,p.%3D,ENST00000400289,;SFI1,synonymous_variant,p.%3D,ENST00000414585,;SFI1,synonymous_variant,p.%3D,ENST00000443011,;SFI1,synonymous_variant,p.%3D,ENST00000417682,;SFI1,synonymous_variant,p.%3D,ENST00000400288,;SFI1,synonymous_variant,p.%3D,ENST00000432498,;SFI1,synonymous_variant,p.%3D,ENST00000540643,;SFI1,synonymous_variant,p.%3D,ENST00000443326,;SFI1,non_coding_transcript_exon_variant,,ENST00000466991,;SFI1,upstream_gene_variant,,ENST00000463436,;SFI1,missense_variant,p.Cys318Tyr,ENST00000452250,;SFI1,3_prime_UTR_variant,,ENST00000524296,;SFI1,non_coding_transcript_exon_variant,,ENST00000491973,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,upstream_gene_variant,,ENST00000495107,;SFI1,downstream_gene_variant,,ENST00000488883,;	2289	60	67	SUCCESS
NCF4	4689	.	GRCh37	22	37272032	37272032	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	20	144	0	ENST00000248899.6:c.759-39A>T		p.*253*	ENST00000248899	NM_000631.4	322		0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13935.1	965	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGCCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000380334	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000397147	Transcript	.	.	ENSG00000100365	7662	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.069)	.	deleterious_low_confidence(0)	.	NCF4_HUMAN	NCF4	HGNC	B0QY04_HUMAN	.	UPI000013CC59	SNV	NCF4,missense_variant,p.Gln322Leu,ENST00000397147,;NCF4,missense_variant,p.Gln186Leu,ENST00000415063,;NCF4,intron_variant,,ENST00000248899,;NCF4,downstream_gene_variant,,ENST00000447071,;	1149	144	158	SUCCESS
CYP2D6	1565	.	GRCh37	22	42525795	42525795	+	synonymous_variant	Silent	SNP	G	G	C	rs200269944	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	14	196	0	ENST00000360608.5:c.297C>G	p.Ala99=	p.A99=	ENST00000360608	NM_000106.5	99	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46721.1	297	MUTECT|MUSE	.	CGGTCGGCGGT	NONE	byCluster	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000353820	.	2/9	.	.	.	.	.	.	.	.	rs200269944	2/9	PASS	ENST00000360608	Transcript	.	.	ENSG00000100197	2625	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CYP2D6	HGNC	Q6NWU0_HUMAN,Q007T9_HUMAN	.	UPI0000157756	SNV	CYP2D6,synonymous_variant,p.%3D,ENST00000360608,;CYP2D6,synonymous_variant,p.%3D,ENST00000359033,;CYP2D6,synonymous_variant,p.%3D,ENST00000389970,;NDUFA6-AS1,intron_variant,,ENST00000416037,;NDUFA6-AS1,intron_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000451451,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608491,;NDUFA6-AS1,downstream_gene_variant,,ENST00000600968,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608288,;NDUFA6-AS1,downstream_gene_variant,,ENST00000595777,;NDUFA6-AS1,downstream_gene_variant,,ENST00000434834,;NDUFA6-AS1,downstream_gene_variant,,ENST00000610250,;NDUFA6-AS1,downstream_gene_variant,,ENST00000417327,;NDUFA6-AS1,downstream_gene_variant,,ENST00000536447,;CYP2D6,synonymous_variant,p.%3D,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609499,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608643,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609833,;NDUFA6-AS1,downstream_gene_variant,,ENST00000547929,;RP4-669P10.19,upstream_gene_variant,,ENST00000417586,;	412	196	251	SUCCESS
BUB1	699	.	GRCh37	2	111398716	111398716	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	20	114	0	ENST00000302759.6:c.2850T>A	p.Ser950Arg	p.S950R	ENST00000302759	NM_004336.4	950	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS33273.1	2850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATACTCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR14030:SF3,hmmpanther:PTHR14030,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000302530	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000302759	Transcript	.	.	ENSG00000169679	1148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BUB1_HUMAN	BUB1	HGNC	Q9BXX5_HUMAN,C9JRC7_HUMAN,C9JQA4_HUMAN,C9IYH4_HUMAN	.	UPI00000012C4	SNV	BUB1,missense_variant,p.Ser893Arg,ENST00000409311,;BUB1,missense_variant,p.Ser950Arg,ENST00000302759,;BUB1,missense_variant,p.Ser930Arg,ENST00000535254,;BUB1,downstream_gene_variant,,ENST00000478175,;BUB1,downstream_gene_variant,,ENST00000466333,;	2969	114	97	SUCCESS
RIF1	55183	.	GRCh37	2	152267846	152267846	+	synonymous_variant	Silent	SNP	T	T	G	rs1047289023	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	628	81	647	0	ENST00000243326.5:c.177T>G	p.Val59=	p.V59=	ENST00000243326		59	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS2194.1	177	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTTTTAAA	NONE	.	.	hmmpanther:PTHR22928,Pfam_domain:PF12231,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000243326	.	2/35	.	.	.	.	.	.	.	.	.	2/35	PASS	ENST00000243326	Transcript	.	.	ENSG00000080345	23207	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RIF1_HUMAN	RIF1	HGNC	C9J1D6_HUMAN,B4DRJ4_HUMAN	.	UPI000023729F	SNV	RIF1,synonymous_variant,p.%3D,ENST00000414861,;RIF1,synonymous_variant,p.%3D,ENST00000420714,;RIF1,synonymous_variant,p.%3D,ENST00000430328,;RIF1,synonymous_variant,p.%3D,ENST00000433166,;RIF1,synonymous_variant,p.%3D,ENST00000444746,;RIF1,synonymous_variant,p.%3D,ENST00000453091,;RIF1,synonymous_variant,p.%3D,ENST00000428287,;RIF1,synonymous_variant,p.%3D,ENST00000243326,;RIF1,non_coding_transcript_exon_variant,,ENST00000494333,;	660	647	709	SUCCESS
KLHL23	151230	.	GRCh37	2	170597991	170597991	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	12	127	0	ENST00000272797.4:c.1310A>G	p.Gln437Arg	p.Q437R	ENST00000272797	NM_001199290.1	437	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS2236.1	1310	MUTECT|MUSE|VARSCANS	.	AGTTCAGAGCT	NONE	.	.	hmmpanther:PTHR24412:SF182,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000376419	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000392647	Transcript	.	.	ENSG00000213160	27506	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KLH23_HUMAN	KLHL23	HGNC	S4R452_HUMAN,S4R3P4_HUMAN	.	UPI000006D999	SNV	KLHL23,missense_variant,p.Gln258Arg,ENST00000437875,;KLHL23,missense_variant,p.Gln437Arg,ENST00000392647,;KLHL23,missense_variant,p.Gln437Arg,ENST00000272797,;KLHL23,5_prime_UTR_variant,,ENST00000602521,;KLHL23,5_prime_UTR_variant,,ENST00000498202,;KLHL23,upstream_gene_variant,,ENST00000448589,;KLHL23,non_coding_transcript_exon_variant,,ENST00000494387,;	1554	127	129	SUCCESS
TTN	7273	.	GRCh37	2	179574355	179574355	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	21	108	0	ENST00000591111.1:c.27740A>G	p.Tyr9247Cys	p.Y9247C	ENST00000591111		9247	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS59435.1	28691	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGTACAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	99/363	.	.	.	.	.	.	.	.	.	99/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr8320Cys,ENST00000342992,;TTN,missense_variant,p.Tyr9564Cys,ENST00000589042,;TTN,missense_variant,p.Tyr9247Cys,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	28916	108	136	SUCCESS
NT5C1B	93034	.	GRCh37	2	18757614	18757614	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	282	61	340	0	ENST00000359846.2:c.1345T>G	p.Phe449Val	p.F449V	ENST00000359846	NM_001199086.1	449	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS33150.1	1345	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAACATTG	NONE	.	.	hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0,Pfam_domain:PF06189	.	.	ENSP00000352904	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000359846	Transcript	.	.	ENSG00000185013	17818	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.836)	.	deleterious(0.05)	.	5NT1B_HUMAN	NT5C1B	HGNC	B4DZ86_HUMAN	.	UPI000035B1B0	SNV	NT5C1B,missense_variant,p.Phe449Val,ENST00000359846,;NT5C1B,missense_variant,p.Phe389Val,ENST00000304081,;NT5C1B,missense_variant,p.Phe449Val,ENST00000600945,;NT5C1B-RDH14,missense_variant,p.Phe449Val,ENST00000532967,;NT5C1B,missense_variant,p.Phe104Val,ENST00000418427,;NT5C1B-RDH14,missense_variant,p.Phe391Val,ENST00000444297,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;	1423	340	343	SUCCESS
DNAH7	56171	.	GRCh37	2	196636398	196636398	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs867446312	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	105	0	ENST00000312428.6:c.11419C>T	p.Gln3807Ter	p.Q3807*	ENST00000312428	NM_018897.2	3807	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS42794.1	11419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGAATAT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000311273	.	61/65	.	.	.	.	.	.	.	.	.	61/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,stop_gained,p.Gln290Ter,ENST00000409063,;DNAH7,stop_gained,p.Gln3807Ter,ENST00000312428,;	11520	105	101	SUCCESS
CCDC150	284992	.	GRCh37	2	197594381	197594381	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	76	0	ENST00000389175.4:c.2752-136A>C		p.*918*	ENST00000389175	NM_001080539.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46478.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTAGATGG	NONE	.	.	.	.	.	ENSP00000373827	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389175	Transcript	.	.	ENSG00000144395	26834	.	.	MODIFIER	23/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC150_HUMAN	CCDC150	HGNC	.	.	UPI0000DD7A7C	SNV	CCDC150,intron_variant,,ENST00000389175,;CCDC150,intron_variant,,ENST00000409270,;CCDC150,intron_variant,,ENST00000272831,;CCDC150,non_coding_transcript_exon_variant,,ENST00000487663,;CCDC150,upstream_gene_variant,,ENST00000461243,;CCDC150,downstream_gene_variant,,ENST00000494389,;CCDC150,upstream_gene_variant,,ENST00000483877,;CCDC150,3_prime_UTR_variant,,ENST00000424427,;CCDC150,3_prime_UTR_variant,,ENST00000448409,;CCDC150,intron_variant,,ENST00000431807,;CCDC150,downstream_gene_variant,,ENST00000463826,;	.	76	73	SUCCESS
CFLAR	8837	.	GRCh37	2	202001018	202001018	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	17	0	ENST00000309955.3:c.523+188A>T		p.*175*	ENST00000309955	NM_003879.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2337.1	.	MUTECT|MUSE	.	ACTCCATTGCC	NONE	.	.	.	.	.	ENSP00000312455	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309955	Transcript	.	.	ENSG00000003402	1876	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CFLAR_HUMAN	CFLAR	HGNC	M0QYM0_HUMAN,C9JV51_HUMAN,C9JSU3_HUMAN,C9J4Q0_HUMAN,C9J408_HUMAN	.	UPI0000030475	SNV	CFLAR,synonymous_variant,p.%3D,ENST00000395148,;CFLAR,intron_variant,,ENST00000341222,;CFLAR,intron_variant,,ENST00000494258,;CFLAR,intron_variant,,ENST00000443227,;CFLAR,intron_variant,,ENST00000340870,;CFLAR,intron_variant,,ENST00000457277,;CFLAR,intron_variant,,ENST00000341582,;CFLAR,intron_variant,,ENST00000342795,;CFLAR,intron_variant,,ENST00000355558,;CFLAR,intron_variant,,ENST00000462763,;CFLAR,intron_variant,,ENST00000479953,;CFLAR,intron_variant,,ENST00000309955,;CFLAR,intron_variant,,ENST00000440180,;CFLAR,intron_variant,,ENST00000470178,;CFLAR,intron_variant,,ENST00000423241,;CFLAR,downstream_gene_variant,,ENST00000417748,;CFLAR,downstream_gene_variant,,ENST00000441224,;CFLAR-AS1,downstream_gene_variant,,ENST00000415011,;CFLAR-AS1,downstream_gene_variant,,ENST00000474886,;CFLAR,non_coding_transcript_exon_variant,,ENST00000460961,;CFLAR,intron_variant,,ENST00000439154,;CFLAR,intron_variant,,ENST00000461422,;CFLAR,downstream_gene_variant,,ENST00000461820,;CFLAR,upstream_gene_variant,,ENST00000474842,;IMPDH1P10,downstream_gene_variant,,ENST00000440965,;	.	17	19	SUCCESS
RUFY4	285180	.	GRCh37	2	218939937	218939937	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	71	289	0	ENST00000344321.7:c.722A>G	p.Gln241Arg	p.Q241R	ENST00000344321	NM_198483.3	241	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	.	782	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAACAAA	NONE	.	.	hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF13	.	.	ENSP00000363270	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000374155	Transcript	.	.	ENSG00000188282	24804	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.11)	.	.	RUFY4	HGNC	C9J235_HUMAN	.	UPI000035E73D	SNV	RUFY4,missense_variant,p.Gln261Arg,ENST00000374155,;RUFY4,missense_variant,p.Gln241Arg,ENST00000344321,;RUFY4,3_prime_UTR_variant,,ENST00000441828,;RUFY4,non_coding_transcript_exon_variant,,ENST00000463872,;RUFY4,downstream_gene_variant,,ENST00000480164,;RUFY4,downstream_gene_variant,,ENST00000465568,;RUFY4,downstream_gene_variant,,ENST00000463618,;RUFY4,downstream_gene_variant,,ENST00000472496,;RUFY4,3_prime_UTR_variant,,ENST00000457754,;RUFY4,downstream_gene_variant,,ENST00000495721,;	1192	289	317	SUCCESS
ACSL3	2181	.	GRCh37	2	223781203	223781203	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	100	0	ENST00000357430.3:c.545A>G	p.Tyr182Cys	p.Y182C	ENST00000357430	NM_004457.3	182	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2455.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTATAATT	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF157,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000350012	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000357430	Transcript	.	.	ENSG00000123983	3570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.16)	.	ACSL3_HUMAN	ACSL3	HGNC	Q6PIM8_HUMAN,F5H062_HUMAN,F5GWH2_HUMAN,C9JC11_HUMAN,B3KMA6_HUMAN	.	UPI0000074742	SNV	ACSL3,missense_variant,p.Tyr182Cys,ENST00000392066,;ACSL3,missense_variant,p.Tyr30Cys,ENST00000540115,;ACSL3,missense_variant,p.Tyr182Cys,ENST00000357430,;ACSL3,upstream_gene_variant,,ENST00000421680,;AC097461.4,downstream_gene_variant,,ENST00000446709,;ACSL3,non_coding_transcript_exon_variant,,ENST00000542810,;ACSL3,upstream_gene_variant,,ENST00000463813,;	1076	100	118	SUCCESS
SPHKAP	80309	.	GRCh37	2	228883428	228883428	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	85	0	ENST00000392056.3:c.2142A>T	p.Leu714Phe	p.L714F	ENST00000392056	NM_001142644.1	714	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS46537.1	2142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTAAAAG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Leu714Phe,ENST00000344657,;SPHKAP,missense_variant,p.Leu714Phe,ENST00000392056,;	2189	85	81	SUCCESS
NGEF	25791	.	GRCh37	2	233757625	233757626	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CG	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	15	93	0	ENST00000264051.3:c.1123_1124dup	p.Thr376GlyfsTer16	p.T376Gfs*16	ENST00000264051	NM_019850.2	375	cgg/cgCGg	0	.	.	.	.	.	CG	R/RX	protein_coding	YES	CCDS2500.1	1124-1125	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGGTCCGCTC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000264051	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000264051	Transcript	.	.	ENSG00000066248	7807	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NGEF_HUMAN	NGEF	HGNC	C9JTV7_HUMAN,B4DDI2_HUMAN	.	UPI000013D4AE	insertion	NGEF,frameshift_variant,p.Thr169GlyfsTer?,ENST00000420650,;NGEF,frameshift_variant,p.Thr284GlyfsTer16,ENST00000373552,;NGEF,frameshift_variant,p.Thr99GlyfsTer16,ENST00000458735,;NGEF,frameshift_variant,p.Thr376GlyfsTer16,ENST00000264051,;NGEF,frameshift_variant,p.Thr99GlyfsTer16,ENST00000416114,;NGEF,frameshift_variant,p.Thr99GlyfsTer16,ENST00000539537,;NGEF,downstream_gene_variant,,ENST00000409079,;NGEF,upstream_gene_variant,,ENST00000424488,;NGEF,upstream_gene_variant,,ENST00000461944,;	1403-1404	93	107	SUCCESS
KLHL30	377007	.	GRCh37	2	239059526	239059526	+	synonymous_variant	Silent	SNP	C	C	T	rs1193070255	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	23	175	1	ENST00000409223.1:c.1557C>T	p.Gly519=	p.G519=	ENST00000409223		519	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46555.2	1557	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGCGGCCG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000386389	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000409223	Transcript	.	.	ENSG00000168427	24770	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLH30_HUMAN	KLHL30	HGNC	J3KND5_HUMAN	.	UPI00001D7DA5	SNV	KLHL30,synonymous_variant,p.%3D,ENST00000305959,;KLHL30,synonymous_variant,p.%3D,ENST00000409223,;	1664	176	216	SUCCESS
PUS10	150962	.	GRCh37	2	61236071	61236071	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	125	0	ENST00000316752.6:c.206A>G	p.Lys69Arg	p.K69R	ENST00000316752	NM_144709.2	69	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS1865.1	206	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTTGGGA	NONE	.	.	hmmpanther:PTHR21568	.	.	ENSP00000326003	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000316752	Transcript	.	.	ENSG00000162927	26505	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.04)	.	PUS10_HUMAN	PUS10	HGNC	C9JNL8_HUMAN	.	UPI000013E1F4	SNV	PUS10,missense_variant,p.Lys69Arg,ENST00000407787,;PUS10,missense_variant,p.Lys69Arg,ENST00000316752,;PUS10,missense_variant,p.Lys69Arg,ENST00000421319,;PUS10,downstream_gene_variant,,ENST00000398658,;PUS10,3_prime_UTR_variant,,ENST00000430495,;PUS10,non_coding_transcript_exon_variant,,ENST00000602599,;	468	125	103	SUCCESS
CCT4	10575	.	GRCh37	2	62107502	62107502	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770614399	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	84	0	ENST00000394440.3:c.298A>G	p.Ile100Val	p.I100V	ENST00000394440	NM_006430.3	100	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33206.1	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATATCTT	NONE	byFrequency	.	hmmpanther:PTHR11353,PROSITE_patterns:PS00995,Gene3D:1.10.560.10,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02342,Superfamily_domains:SSF48592,Prints_domain:PR00304	.	.	ENSP00000377958	.	4/14	.	.	.	.	.	.	.	.	rs770614399	4/14	PASS	ENST00000394440	Transcript	.	.	ENSG00000115484	1617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(0.85)	.	TCPD_HUMAN	CCT4	HGNC	B7Z9L0_HUMAN,B7Z2F4_HUMAN	.	UPI00000362DF	SNV	CCT4,missense_variant,p.Ile100Val,ENST00000394440,;CCT4,missense_variant,p.Ile44Val,ENST00000538252,;CCT4,missense_variant,p.Ile70Val,ENST00000544079,;CCT4,intron_variant,,ENST00000544185,;AC107081.5,intron_variant,,ENST00000425779,;CCT4,upstream_gene_variant,,ENST00000461540,;	595	84	77	SUCCESS
DZIP3	9666	.	GRCh37	3	108380762	108380762	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	147	392	1	ENST00000361582.3:c.2238T>A	p.Thr746=	p.T746=	ENST00000361582	NM_014648.3	746	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2952.1	2238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTGAAAA	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,synonymous_variant,p.%3D,ENST00000463306,;DZIP3,synonymous_variant,p.%3D,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	2468	393	395	SUCCESS
LSAMP	4045	.	GRCh37	3	115529252	115529252	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759178720	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	54	226	1	ENST00000490035.2:c.929C>T	p.Ser310Leu	p.S310L	ENST00000490035	NM_002338.3	310	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS2982.1	929	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGACCCA	NONE	byFrequency	.	hmmpanther:PTHR19831:SF10,hmmpanther:PTHR19831	.	.	ENSP00000419000	.	7/7	.	.	.	.	.	.	.	.	rs759178720,COSM1036652	7/7	PASS	ENST00000490035	Transcript	.	.	ENSG00000185565	6705	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.012)	.	deleterious(0)	0,1	LSAMP_HUMAN	LSAMP	HGNC	.	.	UPI00000746A0	SNV	LSAMP,missense_variant,p.Ser330Leu,ENST00000539563,;LSAMP,missense_variant,p.Ser310Leu,ENST00000490035,;LSAMP,missense_variant,p.Ser317Leu,ENST00000333617,;LSAMP,non_coding_transcript_exon_variant,,ENST00000475403,;	1429	227	228	SUCCESS
CCDC14	64770	.	GRCh37	3	123634282	123634283	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	85	20	110	0	ENST00000433542.2:c.2082dup	p.Ser695Ter	p.S695*	ENST00000433542	NM_022757.4	694	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS3025.2	2082-2083	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTACTATTTT	NONE	.	.	hmmpanther:PTHR22367,hmmpanther:PTHR22367:SF1,Pfam_domain:PF15254	.	.	ENSP00000395706	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000433542	Transcript	.	.	ENSG00000175455	25766	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD14_HUMAN	CCDC14	HGNC	C9JWZ1_HUMAN	.	UPI00016632FB	insertion	CCDC14,frameshift_variant,p.Ser576Ter,ENST00000310351,;CCDC14,frameshift_variant,p.Ser536Ter,ENST00000485727,;CCDC14,frameshift_variant,p.Ser717Ter,ENST00000409697,;CCDC14,frameshift_variant,p.Ser736Ter,ENST00000488653,;CCDC14,frameshift_variant,p.Ser695Ter,ENST00000433542,;CCDC14,frameshift_variant,p.Ser536Ter,ENST00000489746,;CCDC14,intron_variant,,ENST00000419247,;CCDC14,intron_variant,,ENST00000479903,;CCDC14,intron_variant,,ENST00000463996,;CCDC14,intron_variant,,ENST00000483247,;CCDC14,3_prime_UTR_variant,,ENST00000409657,;CCDC14,intron_variant,,ENST00000495381,;	2482-2483	110	105	SUCCESS
COL6A5	256076	.	GRCh37	3	130110508	130110508	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	467	65	519	0	ENST00000312481.7:c.2903A>C	p.Lys968Thr	p.K968T	ENST00000312481		968	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	.	2903	RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAAAACA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	7/42	.	.	.	.	.	.	.	.	.	7/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	tolerated(0.11)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Lys968Thr,ENST00000432398,;COL6A5,missense_variant,p.Lys968Thr,ENST00000265379,;COL6A5,missense_variant,p.Lys968Thr,ENST00000312481,;	3397	519	532	SUCCESS
PIK3CB	5291	.	GRCh37	3	138478168	138478168	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	282	44	355	0	ENST00000289153.2:c.18A>C	p.Ile6=	p.I6=	ENST00000289153	NM_006219.2	6	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS3104.1	18	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATTATGAA	NONE	.	.	hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048	.	.	ENSP00000418143	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000477593	Transcript	.	.	ENSG00000051382	8976	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PK3CB_HUMAN	PIK3CB	HGNC	Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN	.	UPI0000046842	SNV	PIK3CB,synonymous_variant,p.%3D,ENST00000465581,;PIK3CB,synonymous_variant,p.%3D,ENST00000477593,;PIK3CB,synonymous_variant,p.%3D,ENST00000483968,;PIK3CB,synonymous_variant,p.%3D,ENST00000461451,;PIK3CB,synonymous_variant,p.%3D,ENST00000289153,;PIK3CB,synonymous_variant,p.%3D,ENST00000462898,;	92	355	326	SUCCESS
TRIM42	287015	.	GRCh37	3	140401718	140401718	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	75	0	ENST00000286349.3:c.756C>A	p.Ile252=	p.I252=	ENST00000286349	NM_152616.4	252	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3113.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCACCTG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,SMART_domains:SM00336	.	.	ENSP00000286349	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,synonymous_variant,p.%3D,ENST00000286349,;	947	75	70	SUCCESS
KPNA4	3840	.	GRCh37	3	160233335	160233335	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	83	241	0	ENST00000334256.4:c.937A>G	p.Thr313Ala	p.T313A	ENST00000334256	NM_002268.4	313	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3191.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTAACAA	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR23316:SF7,hmmpanther:PTHR23316,PROSITE_profiles:PS50176	.	.	ENSP00000334373	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000334256	Transcript	.	.	ENSG00000186432	6397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.52)	.	tolerated(0.06)	.	IMA3_HUMAN	KPNA4	HGNC	.	.	UPI0000001648	SNV	KPNA4,missense_variant,p.Thr18Ala,ENST00000483437,;KPNA4,missense_variant,p.Thr313Ala,ENST00000334256,;SCARNA7,upstream_gene_variant,,ENST00000458797,;	1243	241	231	SUCCESS
CLASP2	23122	.	GRCh37	3	33759519	33759519	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	59	0	ENST00000468888.2:c.-25G>C		p.*9*	ENST00000468888				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCAGTCT	NONE	.	.	.	.	.	ENSP00000419974	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000468888	Transcript	.	.	ENSG00000163539	17078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CLASP2	HGNC	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN	.	UPI0001B7944B	SNV	CLASP2,5_prime_UTR_variant,,ENST00000307312,;CLASP2,5_prime_UTR_variant,,ENST00000359576,;CLASP2,5_prime_UTR_variant,,ENST00000399362,;CLASP2,5_prime_UTR_variant,,ENST00000468888,;CLASP2,upstream_gene_variant,,ENST00000467956,;	23	59	45	SUCCESS
TTC21A	199223	.	GRCh37	3	39152495	39152495	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	65	0	ENST00000431162.2:c.422G>C	p.Arg141Thr	p.R141T	ENST00000431162		141	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS46800.1	422	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTAGAGGCT	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR14699:SF2,hmmpanther:PTHR14699,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000398211	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000431162	Transcript	.	.	ENSG00000168026	30761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.26)	.	TT21A_HUMAN	TTC21A	HGNC	.	.	UPI00015D46B9	SNV	TTC21A,missense_variant,p.Arg141Thr,ENST00000440121,;TTC21A,missense_variant,p.Arg141Thr,ENST00000301819,;TTC21A,missense_variant,p.Arg141Thr,ENST00000431162,;GORASP1,upstream_gene_variant,,ENST00000427459,;GORASP1,upstream_gene_variant,,ENST00000441081,;GORASP1,upstream_gene_variant,,ENST00000437458,;GORASP1,upstream_gene_variant,,ENST00000422110,;GORASP1,upstream_gene_variant,,ENST00000479927,;GORASP1,upstream_gene_variant,,ENST00000319283,;GORASP1,upstream_gene_variant,,ENST00000411813,;GORASP1,upstream_gene_variant,,ENST00000416741,;GORASP1,upstream_gene_variant,,ENST00000493751,;GORASP1,upstream_gene_variant,,ENST00000493938,;TTC21A,missense_variant,p.Arg141Thr,ENST00000430597,;TTC21A,3_prime_UTR_variant,,ENST00000425163,;TTC21A,non_coding_transcript_exon_variant,,ENST00000459702,;TTC21A,non_coding_transcript_exon_variant,,ENST00000479954,;TTC21A,intron_variant,,ENST00000431559,;TTC21A,intron_variant,,ENST00000493337,;GORASP1,upstream_gene_variant,,ENST00000431601,;GORASP1,upstream_gene_variant,,ENST00000473827,;TTC21A,downstream_gene_variant,,ENST00000490036,;GORASP1,upstream_gene_variant,,ENST00000469471,;GORASP1,upstream_gene_variant,,ENST00000466443,;GORASP1,upstream_gene_variant,,ENST00000441302,;GORASP1,upstream_gene_variant,,ENST00000470910,;GORASP1,upstream_gene_variant,,ENST00000452389,;GORASP1,upstream_gene_variant,,ENST00000488479,;GORASP1,upstream_gene_variant,,ENST00000453680,;GORASP1,upstream_gene_variant,,ENST00000413243,;GORASP1,upstream_gene_variant,,ENST00000493851,;GORASP1,upstream_gene_variant,,ENST00000492064,;	556	65	78	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274911	41274911	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs868651538	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	17	128	0	ENST00000349496.5:c.1161T>A	p.Asn387Lys	p.N387K	ENST00000349496	NM_001904.3	387	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2694.1	1161	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATCTTTC	SITE|p.N387K|c.1161T>A|4,CODON|p.N387K|c.1161T>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	COSM131449,COSM188063	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asn387Lys,ENST00000349496,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000396185,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000405570,;CTNNB1,missense_variant,p.Asn380Lys,ENST00000453024,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1441	128	140	SUCCESS
ZNF660	285349	.	GRCh37	3	44635911	44635911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	18	181	1	ENST00000322734.2:c.226A>G	p.Lys76Glu	p.K76E	ENST00000322734	NM_173658.2	76	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS2716.1	226	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGAAACCC	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24387:SF203,hmmpanther:PTHR24387,PROSITE_profiles:PS50157	.	.	ENSP00000324605	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000322734	Transcript	.	.	ENSG00000144792	26720	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ZN660_HUMAN	ZNF660	HGNC	C9J3N9_HUMAN,C9J3D4_HUMAN	.	UPI0000140EF2	SNV	ZNF660,missense_variant,p.Lys76Glu,ENST00000322734,;ZNF197,intron_variant,,ENST00000412641,;ZNF660,downstream_gene_variant,,ENST00000441021,;ZNF660,downstream_gene_variant,,ENST00000416644,;RP11-944L7.5,downstream_gene_variant,,ENST00000419137,;RP11-944L7.4,intron_variant,,ENST00000457331,;	559	182	180	SUCCESS
SEMA3B	7869	.	GRCh37	3	50314251	50314251	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	14	0	ENST00000456210.1:n.1339A>T		p.*447*	ENST00000456210				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2814.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGATGGAG	NONE	.	2207	.	.	.	ENSP00000315081	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316436	Transcript	.	.	ENSG00000179564	26781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LSME2_HUMAN	LSMEM2	HGNC	.	.	UPI000006DE81	SNV	LSMEM2,upstream_gene_variant,,ENST00000316436,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000418576,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000418948,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000456560,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000414456,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000316347,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000456210,;SEMA3B,downstream_gene_variant,,ENST00000433753,;SEMA3B,downstream_gene_variant,,ENST00000426144,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000454939,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000419007,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000441915,;SEMA3B,downstream_gene_variant,,ENST00000454314,;SEMA3B,downstream_gene_variant,,ENST00000416295,;SEMA3B,downstream_gene_variant,,ENST00000434030,;SEMA3B,downstream_gene_variant,,ENST00000439487,;	.	14	15	SUCCESS
MTTP	4547	.	GRCh37	4	100518239	100518239	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs756001078	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	65	1	ENST00000265517.5:c.925C>G	p.Arg309Gly	p.R309G	ENST00000265517		309	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS3651.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCGGTCC	NONE	.	.	Superfamily_domains:0040642,SMART_domains:SM00638,Pfam_domain:PF01347,hmmpanther:PTHR13024:SF1,hmmpanther:PTHR13024,PROSITE_profiles:PS51211	.	.	ENSP00000400821	.	9/19	.	.	.	.	.	.	.	.	rs756001078	9/19	PASS	ENST00000457717	Transcript	1	.	ENSG00000138823	7467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0.01)	.	MTP_HUMAN	MTTP	HGNC	.	.	UPI000012F826	SNV	MTTP,missense_variant,p.Arg309Gly,ENST00000457717,;MTTP,missense_variant,p.Arg336Gly,ENST00000511045,;MTTP,missense_variant,p.Arg309Gly,ENST00000265517,;RP11-766F14.1,intron_variant,,ENST00000508578,;	1181	66	54	SUCCESS
TNIP3	79931	.	GRCh37	4	122078298	122078298	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	67	0	ENST00000057513.3:c.314A>T	p.Glu105Val	p.E105V	ENST00000057513	NM_024873.5	105	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS58926.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTCTCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2	.	.	ENSP00000426613	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000509841	Transcript	.	.	ENSG00000050730	19315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.08)	.	TNIP3_HUMAN	TNIP3	HGNC	.	.	UPI00017A8362	SNV	TNIP3,missense_variant,p.Glu182Val,ENST00000509841,;TNIP3,missense_variant,p.Glu105Val,ENST00000454328,;TNIP3,missense_variant,p.Glu105Val,ENST00000057513,;TNIP3,missense_variant,p.Glu175Val,ENST00000507879,;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;	624	67	77	SUCCESS
CPEB2	132864	.	GRCh37	4	15010011	15010011	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	116	0	ENST00000507071.1:c.683A>G	p.Asp228Gly	p.D228G	ENST00000507071		228	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS56325.1	1994	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGATAGTT	NONE	.	.	hmmpanther:PTHR12566	.	.	ENSP00000443985	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000538197	Transcript	.	.	ENSG00000137449	21745	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.02)	.	.	CPEB2	HGNC	J3KN18_HUMAN,H0Y9D9_HUMAN,F5H160_HUMAN	.	UPI0001D0434B	SNV	CPEB2,missense_variant,p.Asp228Gly,ENST00000507071,;CPEB2,missense_variant,p.Asp665Gly,ENST00000541112,;CPEB2,missense_variant,p.Asp228Gly,ENST00000259997,;CPEB2,missense_variant,p.Asp665Gly,ENST00000538197,;CPEB2,intron_variant,,ENST00000382395,;CPEB2,intron_variant,,ENST00000345451,;CPEB2,intron_variant,,ENST00000382401,;CPEB2,intron_variant,,ENST00000442003,;RP11-665G4.1,intron_variant,,ENST00000502344,;RP11-665G4.1,intron_variant,,ENST00000513384,;CPEB2,intron_variant,,ENST00000503926,;	1994	116	84	SUCCESS
FGA	2243	.	GRCh37	4	155510651	155510651	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	66	0	ENST00000302053.3:c.118G>A	p.Val40Met	p.V40M	ENST00000302053	NM_000508.3	40	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3787.1	118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACAACCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	tolerated(0.17)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Val40Met,ENST00000302053,;FGA,missense_variant,p.Val40Met,ENST00000403106,;	197	66	64	SUCCESS
TENM3	55714	.	GRCh37	4	183721247	183721247	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762365565	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	63	0	ENST00000511685.1:c.7843G>A	p.Glu2615Lys	p.E2615K	ENST00000511685		2615	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47165.1	7843	MUTECT|MUSE	.	TGGACGAGGAG	NONE	byFrequency	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Pfam_domain:PF15636	.	.	ENSP00000424226	.	28/28	.	.	.	.	.	.	.	.	rs762365565	28/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.651)	.	tolerated(0.06)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Glu2615Lys,ENST00000511685,;TENM3,missense_variant,p.Glu2615Lys,ENST00000406950,;	7966	63	42	SUCCESS
FAT1	2195	.	GRCh37	4	187527226	187527226	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	rs1437456803	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	166	1	ENST00000441802.2:c.10348C>T	p.Gln3450Ter	p.Q3450*	ENST00000441802	NM_005245.3	3450	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS47177.1	10348	RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGGATAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,stop_gained,p.Gln3450Ter,ENST00000441802,;FAT1,upstream_gene_variant,,ENST00000503253,;FAT1,downstream_gene_variant,,ENST00000508035,;	10558	167	100	SUCCESS
RBPJ	3516	.	GRCh37	4	26432500	26432500	+	synonymous_variant	Silent	SNP	A	A	T	rs1058611	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	36	228	0	ENST00000342295.1:c.1374A>T	p.Gly458=	p.G458=	ENST00000342295	NM_005349.3	458	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3437.1	1374	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGAGCAAT	NONE	byFrequency|suspect	.	hmmpanther:PTHR10665:SF3,hmmpanther:PTHR10665	.	.	ENSP00000345206	.	12/12	.	.	.	.	.	.	.	.	rs1058611	12/12	PASS	ENST00000342295	Transcript	1	.	ENSG00000168214	5724	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SUH_HUMAN	RBPJ	HGNC	D6RBQ8_HUMAN,D6RB37_HUMAN,D6RA45_HUMAN,D6R946_HUMAN	.	UPI000020BDF1	SNV	RBPJ,synonymous_variant,p.%3D,ENST00000345843,;RBPJ,synonymous_variant,p.%3D,ENST00000348160,;RBPJ,synonymous_variant,p.%3D,ENST00000342295,;RBPJ,synonymous_variant,p.%3D,ENST00000361572,;RBPJ,synonymous_variant,p.%3D,ENST00000355476,;RBPJ,synonymous_variant,p.%3D,ENST00000507561,;RBPJ,synonymous_variant,p.%3D,ENST00000342320,;RBPJ,3_prime_UTR_variant,,ENST00000504907,;RBPJ,downstream_gene_variant,,ENST00000504423,;RBPJ,non_coding_transcript_exon_variant,,ENST00000505727,;RBPJ,downstream_gene_variant,,ENST00000510725,;RBPJ,downstream_gene_variant,,ENST00000514380,;	1610	229	226	SUCCESS
ADRA2C	152	.	GRCh37	4	3769054	3769054	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	31	0	ENST00000330055.5:c.721A>G	p.Thr241Ala	p.T241A	ENST00000330055	NM_000683.3	241	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47004.1	721	MUTECT|MUSE	.	TGCGCACGCGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF25,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000386069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330055	Transcript	.	.	ENSG00000184160	283	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.326)	.	tolerated(0.08)	.	ADA2C_HUMAN	ADRA2C	HGNC	Q4W594_HUMAN	.	UPI000012500C	SNV	ADRA2C,missense_variant,p.Thr241Ala,ENST00000509482,;ADRA2C,missense_variant,p.Thr241Ala,ENST00000330055,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	930	31	24	SUCCESS
SPATA18	132671	.	GRCh37	4	52928483	52928483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	12	121	0	ENST00000295213.4:c.407A>G	p.Asn136Ser	p.N136S	ENST00000295213	NM_145263.2	136	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3489.1	407	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAACCAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21771:SF0,hmmpanther:PTHR21771	.	.	ENSP00000295213	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000295213	Transcript	.	.	ENSG00000163071	29579	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.28)	.	MIEAP_HUMAN	SPATA18	HGNC	.	.	UPI000006FB0D	SNV	SPATA18,missense_variant,p.Asn136Ser,ENST00000295213,;SPATA18,missense_variant,p.Asn136Ser,ENST00000419395,;SPATA18,intron_variant,,ENST00000514670,;SPATA18,intron_variant,,ENST00000506829,;SPATA18,missense_variant,p.Asn136Ser,ENST00000505320,;SPATA18,3_prime_UTR_variant,,ENST00000503055,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;SPATA18,intron_variant,,ENST00000505038,;SPATA18,intron_variant,,ENST00000508915,;	781	121	118	SUCCESS
AASDH	132949	.	GRCh37	4	57250358	57250358	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	40	298	0	ENST00000205214.6:c.108G>C	p.Lys36Asn	p.K36N	ENST00000205214	NM_181806.2	36	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS3504.1	108	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCTTGTA	NONE	.	.	Superfamily_domains:SSF56801,Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	2/15	.	.	.	.	.	.	.	.	COSM3826021,COSM3826022	2/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.776)	.	tolerated(0.09)	1,1	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,missense_variant,p.Lys36Asn,ENST00000451613,;AASDH,missense_variant,p.Lys36Asn,ENST00000205214,;AASDH,missense_variant,p.Lys36Asn,ENST00000502617,;AASDH,5_prime_UTR_variant,,ENST00000434343,;AASDH,5_prime_UTR_variant,,ENST00000602986,;AASDH,intron_variant,,ENST00000513376,;RP11-646I6.5,upstream_gene_variant,,ENST00000602927,;AASDH,intron_variant,,ENST00000510762,;AASDH,missense_variant,p.Lys36Asn,ENST00000503808,;AASDH,missense_variant,p.Lys36Asn,ENST00000514745,;AASDH,non_coding_transcript_exon_variant,,ENST00000514796,;AASDH,non_coding_transcript_exon_variant,,ENST00000510012,;	289	298	279	SUCCESS
WFS1	7466	.	GRCh37	4	6303155	6303155	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201993978	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	60	0	ENST00000226760.1:c.1633G>A	p.Val545Met	p.V545M	ENST00000226760	NM_001145853.1	545	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS3386.1	1633	RADIA|MUTECT|MUSE	.	TCTCCGTGGTC	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13098	.	.	ENSP00000226760	.	8/8	.	.	.	.	.	.	.	.	rs201993978	8/8	PASS	ENST00000226760	Transcript	1	.	ENSG00000109501	12762	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	tolerated(0.14)	.	WFS1_HUMAN	WFS1	HGNC	B4DJ99_HUMAN	.	UPI00000715C3	SNV	WFS1,missense_variant,p.Val545Met,ENST00000503569,;WFS1,missense_variant,p.Val545Met,ENST00000226760,;WFS1,downstream_gene_variant,,ENST00000506362,;WFS1,non_coding_transcript_exon_variant,,ENST00000507765,;WFS1,downstream_gene_variant,,ENST00000513395,;	1803	60	76	SUCCESS
CNOT6L	246175	.	GRCh37	4	78697452	78697453	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	94	29	97	0	ENST00000504123.1:c.99dup	p.Ser34IlefsTer11	p.S34Ifs*11	ENST00000504123	NM_001286790.1	33	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS47082.1	99-100	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGAGATTTTT	NONE	.	.	hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF35	.	.	ENSP00000264903	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000264903	Transcript	.	.	ENSG00000138767	18042	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNO6L_HUMAN	CNOT6L	HGNC	D6RGK9_HUMAN	.	UPI0000E445DF	insertion	CNOT6L,frameshift_variant,p.Ser34IlefsTer11,ENST00000504123,;CNOT6L,frameshift_variant,p.Ser34IlefsTer11,ENST00000264903,;CNOT6L,frameshift_variant,p.Ser34IlefsTer11,ENST00000515441,;CNOT6L,frameshift_variant,p.Ser63IlefsTer11,ENST00000515506,;CNOT6L,frameshift_variant,p.Ser41IlefsTer11,ENST00000512485,;CNOT6L,non_coding_transcript_exon_variant,,ENST00000506166,;CNOT6L,frameshift_variant,p.Ser34IlefsTer522,ENST00000504804,;	181-182	97	123	SUCCESS
APC	324	.	GRCh37	5	112175181	112175181	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	402	40	207	0	ENST00000257430.4:c.3890A>G	p.Asp1297Gly	p.D1297G	ENST00000257430	NM_000038.5	1297	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS4107.1	3890	MUTECT|MUSE|VARSCANS	.	AGCAGATTCTG	BUFFER|p.Q1294*|c.3880C>T|15,BUFFER|p.E1295*|c.3883G>T|7,BUFFER|p.N1300fs*5|c.3897delT|3	.	.	hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	COSM23578	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.021)	.	.	1	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Asp1297Gly,ENST00000257430,;APC,missense_variant,p.Asp1297Gly,ENST00000457016,;APC,missense_variant,p.Asp1297Gly,ENST00000508376,;APC,missense_variant,p.Asp1297Gly,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,non_coding_transcript_exon_variant,,ENST00000502371,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000514164,;	4270	207	442	SUCCESS
ZRSR1	0	.	GRCh37	5	112228224	112228225	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TA	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	623	55	392	0	ENST00000391338.1:c.890_891dup	p.Ala298MetfsTer13	p.A298Mfs*13	ENST00000391338	NM_001204199.1	296	-/TA	0	.	.	.	.	.	TA	-/X	protein_coding	YES	.	888-889	INDELOCATOR|VARSCANI	.	CGATGGTATGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF9,Gene3D:3.30.70.330,Pfam_domain:PF13893,SMART_domains:SM00361,Superfamily_domains:SSF54928,Prints_domain:PR01848	.	.	ENSP00000375133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391338	Transcript	.	.	ENSG00000212643	12456	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	U2AFL_HUMAN	ZRSR1	HGNC	.	.	UPI0000137928	insertion	ZRSR1,frameshift_variant,p.Ala298MetfsTer13,ENST00000391338,;REEP5,3_prime_UTR_variant,,ENST00000545426,;REEP5,intron_variant,,ENST00000504247,;REEP5,intron_variant,,ENST00000261482,;REEP5,intron_variant,,ENST00000379638,;REEP5,intron_variant,,ENST00000513339,;CTC-487M23.5,upstream_gene_variant,,ENST00000602872,;CTC-487M23.8,non_coding_transcript_exon_variant,,ENST00000512790,;REEP5,intron_variant,,ENST00000474542,;CTC-487M23.8,downstream_gene_variant,,ENST00000503445,;REEP5,3_prime_UTR_variant,,ENST00000511865,;CTC-487M23.8,3_prime_UTR_variant,,ENST00000506997,;REEP5,non_coding_transcript_exon_variant,,ENST00000497856,;CTC-487M23.8,downstream_gene_variant,,ENST00000509024,;	912-913	393	678	SUCCESS
CXCL14	9547	.	GRCh37	5	134914200	134914200	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	13	91	0	ENST00000337225.5:c.130C>T	p.Pro44Ser	p.P44S	ENST00000337225	NM_004887.4	44	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS4188.1	130	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGTCCCT	NONE	.	.	Superfamily_domains:SSF54117,Gene3D:2.40.50.40,Pfam_domain:PF00048,hmmpanther:PTHR15188	.	.	ENSP00000337065	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000337225	Transcript	.	.	ENSG00000145824	10640	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.96)	.	deleterious(0.02)	.	CXL14_HUMAN	CXCL14	HGNC	.	.	UPI000003B10C	SNV	CXCL14,missense_variant,p.Pro44Ser,ENST00000337225,;CXCL14,missense_variant,p.Pro32Ser,ENST00000512158,;CTC-321K16.1,intron_variant,,ENST00000509372,;CTC-321K16.1,upstream_gene_variant,,ENST00000514446,;	595	91	127	SUCCESS
PKD2L2	27039	.	GRCh37	5	137230131	137230133	+	inframe_deletion	In_Frame_Del	DEL	CTA	CTA	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	CTA	CTA	.	.	.	.	.	.	.	.	.	.	.	.	.	48	71	71	0	ENST00000508883.1:c.360_362del	p.Tyr121del	p.Y121del	ENST00000508883		119	atCTAc/atc	0	.	.	.	.	.	-	IY/I	protein_coding	YES	CCDS43367.1	357-359	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGCATCTACTATG	BUFFER|p.R118H|c.353G>A|3	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47,Pfam_domain:PF08016,Prints_domain:PR01433	.	.	ENSP00000290431	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000290431	Transcript	.	.	ENSG00000078795	9012	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PK2L2_HUMAN	PKD2L2	HGNC	D6RF71_HUMAN,D6RBX8_HUMAN	.	UPI000049E016	deletion	PKD2L2,inframe_deletion,p.Tyr121del,ENST00000508883,;PKD2L2,inframe_deletion,p.Tyr87del,ENST00000350250,;PKD2L2,inframe_deletion,p.Tyr121del,ENST00000290431,;PKD2L2,inframe_deletion,p.Tyr121del,ENST00000502810,;PKD2L2,inframe_deletion,p.Tyr31del,ENST00000503015,;PKD2L2,inframe_deletion,p.Tyr31del,ENST00000511176,;PKD2L2,inframe_deletion,p.Tyr121del,ENST00000508638,;PKD2L2,3_prime_UTR_variant,,ENST00000414094,;	380-382	71	119	SUCCESS
PCDHGB1	56104	.	GRCh37	5	140730572	140730572	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	49	167	0	ENST00000523390.1:c.745C>G	p.Gln249Glu	p.Q249E	ENST00000523390	NM_018922.2	249	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS54923.1	745	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCAAGAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429273	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000523390	Transcript	.	.	ENSG00000254221	8708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.314)	.	tolerated(0.55)	.	PCDGD_HUMAN	PCDHGB1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073588	SNV	PCDHGB1,missense_variant,p.Gln249Glu,ENST00000523390,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA4,upstream_gene_variant,,ENST00000571252,;	745	167	237	SUCCESS
RNF145	153830	.	GRCh37	5	158603801	158603801	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	509	134	353	1	ENST00000424310.2:c.460C>T	p.Leu154Phe	p.L154F	ENST00000424310	NM_001199383.1	154	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS56393.1	550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGCATGT	NONE	.	.	Pfam_domain:PF13705,hmmpanther:PTHR12477:SF68,hmmpanther:PTHR12477,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000430955	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	SNV	RNF145,missense_variant,p.Leu168Phe,ENST00000520638,;RNF145,missense_variant,p.Leu171Phe,ENST00000521606,;RNF145,missense_variant,p.Leu154Phe,ENST00000519865,;RNF145,missense_variant,p.Leu182Phe,ENST00000274542,;RNF145,missense_variant,p.Leu184Phe,ENST00000518802,;RNF145,missense_variant,p.Leu154Phe,ENST00000424310,;RNF145,upstream_gene_variant,,ENST00000521266,;	700	354	644	SUCCESS
DOCK2	1794	.	GRCh37	5	169502981	169502981	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	30	117	0	ENST00000256935.8:c.4759C>T	p.His1587Tyr	p.H1587Y	ENST00000256935	NM_004946.2	1587	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS4371.1	4759	RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCATGAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000256935	.	47/52	.	.	.	.	.	.	.	.	.	47/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.His648Tyr,ENST00000540750,;DOCK2,missense_variant,p.His1587Tyr,ENST00000256935,;DOCK2,missense_variant,p.His1079Tyr,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	4839	117	200	SUCCESS
FLT4	2324	.	GRCh37	5	180043901	180043901	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	10	108	0	ENST00000261937.6:c.3095A>T	p.Lys1032Met	p.K1032M	ENST00000261937	NM_182925.4	1032	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS4457.1	3095	MUTECT|MUSE	.	TCACCTTTCGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50011	.	.	ENSP00000261937	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,missense_variant,p.Lys1032Met,ENST00000261937,;FLT4,missense_variant,p.Lys1032Met,ENST00000502649,;FLT4,missense_variant,p.Lys1032Met,ENST00000393347,;FLT4,missense_variant,p.Lys70Met,ENST00000512795,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,splice_region_variant,,ENST00000507059,;FLT4,splice_region_variant,,ENST00000514810,;FLT4,upstream_gene_variant,,ENST00000510000,;	3174	108	157	SUCCESS
SKIV2L2	0	.	GRCh37	5	54637521	54637521	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	48	0	ENST00000230640.5:c.703A>T	p.Met235Leu	p.M235L	ENST00000230640	NM_015360.4	235	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS3967.1	703	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTATGCTT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Gene3D:3.40.50.300,Pfam_domain:PF00270,PIRSF_domain:PIRSF005198,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000230640	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,missense_variant,p.Met134Leu,ENST00000545714,;SKIV2L2,missense_variant,p.Met235Leu,ENST00000230640,;SKIV2L2,intron_variant,,ENST00000504997,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,3_prime_UTR_variant,,ENST00000505565,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000502953,;	957	48	57	SUCCESS
SLC30A5	64924	.	GRCh37	5	68400009	68400009	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	18	122	0	ENST00000396591.3:c.274-449G>T		p.*92*	ENST00000396591	NM_022902.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3996.1	.	MUTECT|MUSE	.	GCCCAGGCTGC	NONE	.	.	.	.	.	ENSP00000379836	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396591	Transcript	.	.	ENSG00000145740	19089	.	.	MODIFIER	3/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNT5_HUMAN	SLC30A5	HGNC	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN	.	UPI0000073958	SNV	SLC30A5,3_prime_UTR_variant,,ENST00000380860,;SLC30A5,3_prime_UTR_variant,,ENST00000502979,;SLC30A5,intron_variant,,ENST00000396591,;SLC30A5,intron_variant,,ENST00000504103,;SLC30A5,intron_variant,,ENST00000507354,;	.	122	129	SUCCESS
MARVELD2	153562	.	GRCh37	5	68728916	68728916	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746116082	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	65	0	ENST00000325631.5:c.1499G>T	p.Arg500Leu	p.R500L	ENST00000325631	NM_001038603.2	500	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS34175.1	1499	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGACAGG	NONE	byFrequency	.	Superfamily_domains:0053542,Pfam_domain:PF07303,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3	.	.	ENSP00000323264	.	5/7	.	.	.	.	.	.	.	.	rs746116082,COSM177494	5/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.004)	.	tolerated(0.74)	0,1	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,missense_variant,p.Arg500Leu,ENST00000512803,;MARVELD2,missense_variant,p.Arg384Leu,ENST00000436532,;MARVELD2,missense_variant,p.Arg488Leu,ENST00000454295,;MARVELD2,missense_variant,p.Arg500Leu,ENST00000325631,;MARVELD2,missense_variant,p.Arg384Leu,ENST00000413223,;	1573	65	53	SUCCESS
ADCY2	108	.	GRCh37	5	7396475	7396476	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGG	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	75	0	ENST00000338316.4:c.68_69insGGG	p.Gly23dup	p.G23dup	ENST00000338316	NM_020546.2	23	-/GGG	0	.	.	.	.	.	GGG	-/G	protein_coding	YES	CCDS3872.2	66-67	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCGGCGGAGA	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	insertion	ADCY2,inframe_insertion,p.Gly23dup,ENST00000338316,;	155-156	75	86	SUCCESS
GPR98	0	.	GRCh37	5	89947508	89947508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	17	151	0	ENST00000405460.2:c.3377T>C	p.Ile1126Thr	p.I1126T	ENST00000405460	NM_032119.3	1126	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47246.1	3377	MUTECT|MUSE	.	GCCCATAGACA	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	18/90	.	.	.	.	.	.	.	.	.	18/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ile1126Thr,ENST00000405460,;GPR98,missense_variant,p.Ile715Thr,ENST00000504142,;	3473	151	223	SUCCESS
NMBR	4829	.	GRCh37	6	142396877	142396877	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758915165	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	19	125	0	ENST00000258042.1:c.1081C>T	p.Arg361Cys	p.R361C	ENST00000258042	NM_002511.2	361	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5196.1	1081	RADIA|MUTECT|MUSE|VARSCANS	.	CATACGCACCG	CODON|p.R361H|c.1082G>A|3	byFrequency	.	Prints_domain:PR00639,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53	.	.	ENSP00000258042	.	3/3	.	.	.	.	.	.	.	.	rs758915165	3/3	PASS	ENST00000258042	Transcript	.	.	ENSG00000135577	7843	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.808)	.	tolerated(0.08)	.	NMBR_HUMAN	NMBR	HGNC	.	.	UPI000013CFAB	SNV	NMBR,missense_variant,p.Arg361Cys,ENST00000258042,;NMBR,splice_region_variant,,ENST00000480652,;	1222	125	140	SUCCESS
OPRM1	4988	.	GRCh37	6	154429260	154429260	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	19	149	0	ENST00000330432.7:c.1165-10558A>G		p.*389*	ENST00000330432	NM_000914.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47503.1	.	MUTECT|MUSE|VARSCANS	.	GCGGCACCATC	NONE	.	.	.	.	.	ENSP00000394624	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,3_prime_UTR_variant,,ENST00000435918,;OPRM1,3_prime_UTR_variant,,ENST00000414028,;OPRM1,intron_variant,,ENST00000522236,;OPRM1,intron_variant,,ENST00000337049,;OPRM1,intron_variant,,ENST00000452687,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,intron_variant,,ENST00000330432,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000522555,;OPRM1,intron_variant,,ENST00000434900,;OPRM1,downstream_gene_variant,,ENST00000419506,;OPRM1,downstream_gene_variant,,ENST00000524163,;OPRM1,intron_variant,,ENST00000519613,;OPRM1,3_prime_UTR_variant,,ENST00000519083,;OPRM1,intron_variant,,ENST00000524150,;OPRM1,intron_variant,,ENST00000522739,;	.	149	146	SUCCESS
ARID1B	57492	.	GRCh37	6	157405805	157405805	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	6	73	0	ENST00000346085.5:c.2048del	p.Gly683AlafsTer14	p.G683Afs*14	ENST00000346085	NM_020732.3	683	Ggc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS55072.1	2047	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTCTGGCTCC	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	deletion	ARID1B,frameshift_variant,p.Gly92AlafsTer14,ENST00000319584,;ARID1B,frameshift_variant,p.Gly670AlafsTer14,ENST00000367148,;ARID1B,frameshift_variant,p.Gly683AlafsTer14,ENST00000346085,;ARID1B,frameshift_variant,p.Gly670AlafsTer14,ENST00000350026,;ARID1B,frameshift_variant,p.Gly169AlafsTer14,ENST00000414678,;ARID1B,frameshift_variant,p.Gly612AlafsTer14,ENST00000275248,;ARID1B,non_coding_transcript_exon_variant,,ENST00000452544,;ARID1B,upstream_gene_variant,,ENST00000493658,;	2048	73	68	SUCCESS
MAP3K4	4216	.	GRCh37	6	161519420	161519420	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	53	0	ENST00000392142.4:c.3635C>G	p.Ser1212Cys	p.S1212C	ENST00000392142	NM_005922.2	1212	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS34565.1	3635	MUTECT|MUSE|VARSCANS	.	TGACTCTGTGC	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.19)	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,missense_variant,p.Ser1208Cys,ENST00000366920,;MAP3K4,missense_variant,p.Ser1212Cys,ENST00000392142,;MAP3K4,intron_variant,,ENST00000366919,;MAP3K4,intron_variant,,ENST00000348824,;MAP3K4,missense_variant,p.Ser1212Cys,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000544733,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000541901,;MAP3K4,intron_variant,,ENST00000543421,;MAP3K4,upstream_gene_variant,,ENST00000536852,;	3783	53	56	SUCCESS
CDKAL1	54901	.	GRCh37	6	20846331	20846331	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	219	59	146	0	ENST00000274695.4:c.667del	p.Thr223LeufsTer16	p.T223Lfs*16	ENST00000274695	NM_017774.3	222	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS4546.1	664	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTGCAAAACT	NONE	.	.	hmmpanther:PTHR11918,hmmpanther:PTHR11918:SF45,PROSITE_patterns:PS01278,TIGRFAM_domain:TIGR00089,Pfam_domain:PF04055,Gene3D:2qgqB01,TIGRFAM_domain:TIGR01578,SMART_domains:SM00729,Superfamily_domains:SSF102114	.	.	ENSP00000274695	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000274695	Transcript	.	.	ENSG00000145996	21050	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDKAL_HUMAN	CDKAL1	HGNC	.	.	UPI000013DA21	deletion	CDKAL1,frameshift_variant,p.Thr223LeufsTer16,ENST00000274695,;CDKAL1,frameshift_variant,p.Thr223LeufsTer16,ENST00000378610,;CDKAL1,frameshift_variant,p.Thr153LeufsTer16,ENST00000378624,;	831	146	278	SUCCESS
ZKSCAN8	7745	.	GRCh37	6	28117286	28117286	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	77	118	1	ENST00000330236.6:c.443G>A	p.Arg148Lys	p.R148K	ENST00000330236	NM_001278122.1	148	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS4645.1	443	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGGGTAC	NONE	.	.	hmmpanther:PTHR23226:SF64,hmmpanther:PTHR23226,SMART_domains:SM00431	.	.	ENSP00000332750	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000330236	Transcript	.	.	ENSG00000198315	12983	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.12)	.	ZKSC8_HUMAN	ZKSCAN8	HGNC	.	.	UPI000013D073	SNV	ZKSCAN8,missense_variant,p.Arg148Lys,ENST00000457389,;ZKSCAN8,missense_variant,p.Arg148Lys,ENST00000330236,;ZKSCAN8,missense_variant,p.Gly153Arg,ENST00000606198,;ZKSCAN8,missense_variant,p.Gly153Arg,ENST00000536028,;	627	119	157	SUCCESS
PPP1R10	5514	.	GRCh37	6	30569817	30569817	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	15	90	0	ENST00000376511.2:c.2609A>T	p.His870Leu	p.H870L	ENST00000376511	NM_002714.3	870	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS4681.1	2609	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATGGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12506	.	.	ENSP00000365694	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000376511	Transcript	.	.	ENSG00000204569	9284	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	PP1RA_HUMAN	PPP1R10	HGNC	Q2L6I0_HUMAN	.	UPI000000D73C	SNV	PPP1R10,missense_variant,p.His870Leu,ENST00000376511,;PPP1R10,downstream_gene_variant,,ENST00000468181,;PPP1R10,downstream_gene_variant,,ENST00000461593,;PPP1R10,downstream_gene_variant,,ENST00000496955,;PPP1R10,downstream_gene_variant,,ENST00000476704,;ABCF1,downstream_gene_variant,,ENST00000475993,;	3162	90	120	SUCCESS
C6orf47-AS1	106480731	.	GRCh37	6	31627289	31627336	+	intron_variant,non_coding_transcript_variant	Intron	DEL	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	68	0	ENST00000422049.1:n.351+835_352-839del		p.*117*	ENST00000422049		130		0	.	.	.	.	.	-	VSPEGGLSVPGPGAPLE/E	protein_coding	YES	CCDS34399.1	389-436	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTCTCCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACACCCCT	NONE	.	.	hmmpanther:PTHR14307:SF0,hmmpanther:PTHR14307,Pfam_domain:PF15576	.	.	ENSP00000365076	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375911	Transcript	.	.	ENSG00000204439	19076	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CF047_HUMAN	C6orf47	HGNC	.	.	UPI000014109C	deletion	C6orf47,inframe_deletion,p.Val130_Leu145del,ENST00000375911,;GPANK1,downstream_gene_variant,,ENST00000375906,;APOM,downstream_gene_variant,,ENST00000375920,;APOM,downstream_gene_variant,,ENST00000375918,;APOM,downstream_gene_variant,,ENST00000375916,;GPANK1,downstream_gene_variant,,ENST00000445768,;GPANK1,downstream_gene_variant,,ENST00000458083,;GPANK1,downstream_gene_variant,,ENST00000375900,;GPANK1,downstream_gene_variant,,ENST00000375895,;GPANK1,downstream_gene_variant,,ENST00000375896,;GPANK1,downstream_gene_variant,,ENST00000375893,;GPANK1,downstream_gene_variant,,ENST00000456540,;C6orf47-AS1,intron_variant,,ENST00000422049,;Y_RNA,upstream_gene_variant,,ENST00000364337,;	1214-1261	68	95	SUCCESS
TFEB	7942	.	GRCh37	6	41653841	41653841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	29	102	0	ENST00000230323.4:c.938G>T	p.Trp313Leu	p.W313L	ENST00000230323	NM_007162.2	313	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS4858.1	938	RADIA|MUTECT|MUSE	.	GGAGCCAGAGC	NONE	.	.	hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF9	.	.	ENSP00000230323	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000230323	Transcript	.	.	ENSG00000112561	11753	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	TFEB_HUMAN	TFEB	HGNC	Q86WB1_HUMAN,Q709A9_HUMAN,Q709A8_HUMAN,B1AKB4_HUMAN,B1AKB2_HUMAN,B1AKB1_HUMAN,B1AKA9_HUMAN	.	UPI0000001615	SNV	TFEB,missense_variant,p.Trp313Leu,ENST00000373033,;TFEB,missense_variant,p.Trp313Leu,ENST00000403298,;TFEB,missense_variant,p.Trp327Leu,ENST00000358871,;TFEB,missense_variant,p.Trp228Leu,ENST00000420312,;TFEB,missense_variant,p.Trp171Leu,ENST00000406563,;TFEB,missense_variant,p.Trp399Leu,ENST00000343317,;TFEB,missense_variant,p.Trp313Leu,ENST00000230323,;TFEB,downstream_gene_variant,,ENST00000416140,;TFEB,downstream_gene_variant,,ENST00000394283,;AL035588.1,upstream_gene_variant,,ENST00000597468,;TFEB,downstream_gene_variant,,ENST00000424495,;TFEB,downstream_gene_variant,,ENST00000419396,;TFEB,downstream_gene_variant,,ENST00000445214,;TFEB,downstream_gene_variant,,ENST00000419574,;TFEB,downstream_gene_variant,,ENST00000494822,;	1240	102	104	SUCCESS
TFEB	7942	.	GRCh37	6	41653843	41653843	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	103	1	ENST00000230323.4:c.936C>G	p.Leu312=	p.L312=	ENST00000230323	NM_007162.2	312	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4858.1	936	RADIA|MUTECT|MUSE	.	AGCCAGAGCTG	NONE	.	.	hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF9	.	.	ENSP00000230323	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000230323	Transcript	.	.	ENSG00000112561	11753	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TFEB_HUMAN	TFEB	HGNC	Q86WB1_HUMAN,Q709A9_HUMAN,Q709A8_HUMAN,B1AKB4_HUMAN,B1AKB2_HUMAN,B1AKB1_HUMAN,B1AKA9_HUMAN	.	UPI0000001615	SNV	TFEB,synonymous_variant,p.%3D,ENST00000373033,;TFEB,synonymous_variant,p.%3D,ENST00000403298,;TFEB,synonymous_variant,p.%3D,ENST00000358871,;TFEB,synonymous_variant,p.%3D,ENST00000420312,;TFEB,synonymous_variant,p.%3D,ENST00000406563,;TFEB,synonymous_variant,p.%3D,ENST00000343317,;TFEB,synonymous_variant,p.%3D,ENST00000230323,;TFEB,downstream_gene_variant,,ENST00000416140,;TFEB,downstream_gene_variant,,ENST00000394283,;AL035588.1,upstream_gene_variant,,ENST00000597468,;TFEB,downstream_gene_variant,,ENST00000424495,;TFEB,downstream_gene_variant,,ENST00000419396,;TFEB,downstream_gene_variant,,ENST00000445214,;TFEB,downstream_gene_variant,,ENST00000419574,;TFEB,downstream_gene_variant,,ENST00000494822,;	1238	104	103	SUCCESS
PRPH2	5961	.	GRCh37	6	42689615	42689615	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs61755785	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	14	96	0	ENST00000230381.5:c.458A>G	p.Lys153Arg	p.K153R	ENST00000230381	NM_000322.4	153	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS4871.1	458	RADIA|MUTECT|MUSE|VARSCANS	not_provided	TCTTCTTCATG	BUFFER|p.K154R|c.461A>G|4	.	.	hmmpanther:PTHR19282:SF202,hmmpanther:PTHR19282,Pfam_domain:PF00335,Superfamily_domains:0037997	.	.	ENSP00000230381	.	1/3	.	.	.	.	.	.	.	.	CM941208,rs61755785,RISN_RDS:c.458A>G	1/3	PASS	ENST00000230381	Transcript	.	.	ENSG00000112619	9942	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,0	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PRPH2_HUMAN	PRPH2	HGNC	.	.	UPI0000072942	SNV	PRPH2,missense_variant,p.Lys153Arg,ENST00000230381,;	698	96	120	SUCCESS
CRIP3	401262	.	GRCh37	6	43276057	43276057	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1454749341	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	69	0	ENST00000274990.4:c.134C>A	p.Ala45Glu	p.A45E	ENST00000274990		45	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS4894.2	134	MUTECT|MUSE|VARSCANS	.	CCTCTGCATGC	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Ala45Glu,ENST00000274990,;CRIP3,missense_variant,p.Ala45Glu,ENST00000372569,;CRIP3,upstream_gene_variant,,ENST00000451294,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;CRIP3,upstream_gene_variant,,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;ZNF318,non_coding_transcript_exon_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000485819,;CRIP3,upstream_gene_variant,,ENST00000487744,;ZNF318,downstream_gene_variant,,ENST00000605935,;CRIP3,upstream_gene_variant,,ENST00000477866,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	139	69	75	SUCCESS
CD2AP	23607	.	GRCh37	6	47548615	47548615	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770895414	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	357	43	398	0	ENST00000359314.5:c.1024C>A	p.Pro342Thr	p.P342T	ENST00000359314	NM_012120.2	342	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34472.1	1024	RADIA|MUTECT|MUSE|VARSCANS	.	AACCACCACCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF23,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	.	.	ENSP00000352264	.	10/18	.	.	.	.	.	.	.	.	rs770895414	10/18	PASS	ENST00000359314	Transcript	.	.	ENSG00000198087	14258	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.946)	.	tolerated(0.07)	.	CD2AP_HUMAN	CD2AP	HGNC	.	.	UPI000006F8C1	SNV	CD2AP,missense_variant,p.Pro342Thr,ENST00000359314,;CD2AP,non_coding_transcript_exon_variant,,ENST00000479857,;CD2AP,downstream_gene_variant,,ENST00000463175,;	1480	398	400	SUCCESS
RAB23	51715	.	GRCh37	6	57059644	57059644	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	63	188	0	ENST00000317483.3:c.405A>T	p.Glu135Asp	p.E135D	ENST00000317483	NM_016277.4	135	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4962.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTTCCTC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF209,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000320413	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000317483	Transcript	.	.	ENSG00000112210	14263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.07)	.	RAB23_HUMAN	RAB23	HGNC	.	.	UPI000013315E	SNV	RAB23,missense_variant,p.Glu135Asp,ENST00000468148,;RAB23,missense_variant,p.Glu135Asp,ENST00000317483,;	1025	188	204	SUCCESS
TTK	7272	.	GRCh37	6	80717572	80717572	+	synonymous_variant	Silent	SNP	A	A	T	rs749150048	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	34	172	1	ENST00000369798.2:c.186A>T	p.Pro62=	p.P62=	ENST00000369798	NM_003318.4	62	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4993.1	186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCAGAGGA	NONE	.	.	hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974	.	.	ENSP00000358813	.	3/22	.	.	.	.	.	.	.	.	rs749150048	3/22	PASS	ENST00000369798	Transcript	.	.	ENSG00000112742	12401	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTK_HUMAN	TTK	HGNC	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN	.	UPI0000073C7B	SNV	TTK,synonymous_variant,p.%3D,ENST00000369798,;TTK,synonymous_variant,p.%3D,ENST00000511260,;TTK,synonymous_variant,p.%3D,ENST00000509894,;TTK,synonymous_variant,p.%3D,ENST00000504040,;TTK,synonymous_variant,p.%3D,ENST00000230510,;TTK,synonymous_variant,p.%3D,ENST00000502580,;TTK,3_prime_UTR_variant,,ENST00000509313,;TTK,non_coding_transcript_exon_variant,,ENST00000430061,;	297	173	151	SUCCESS
USP45	85015	.	GRCh37	6	99885203	99885203	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	56	105	0	ENST00000327681.6:c.2233G>C	p.Gly745Arg	p.G745R	ENST00000327681	NM_001080481.1	745	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS34501.1	2233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCTTCTC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF346,hmmpanther:PTHR24006,PROSITE_patterns:PS00973,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000333376	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000327681	Transcript	.	.	ENSG00000123552	20080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP45_HUMAN	USP45	HGNC	F5H1L5_HUMAN,D6RE98_HUMAN	.	UPI0000253B80	SNV	USP45,missense_variant,p.Gly425Arg,ENST00000392738,;USP45,missense_variant,p.Gly697Arg,ENST00000369233,;USP45,missense_variant,p.Gly745Arg,ENST00000500704,;USP45,missense_variant,p.Gly745Arg,ENST00000327681,;USP45,missense_variant,p.Gly38Arg,ENST00000539675,;USP45,3_prime_UTR_variant,,ENST00000496518,;	2766	105	136	SUCCESS
RELN	5649	.	GRCh37	7	103155875	103155875	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	57	0	ENST00000428762.1:c.7876C>G	p.Leu2626Val	p.L2626V	ENST00000428762	NM_005045.3	2626	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS47680.1	7876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGGATAT	NONE	.	.	hmmpanther:PTHR11841,Superfamily_domains:SSF50939	.	.	ENSP00000392423	.	50/65	.	.	.	.	.	.	.	.	.	50/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	tolerated(0.36)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Leu2626Val,ENST00000424685,;RELN,missense_variant,p.Leu2626Val,ENST00000428762,;RELN,missense_variant,p.Leu2626Val,ENST00000343529,;CTB-107G13.1,downstream_gene_variant,,ENST00000422488,;	8036	57	88	SUCCESS
ATXN7L1	222255	.	GRCh37	7	105260694	105260694	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	32	151	0	ENST00000419735.3:c.1470C>T	p.Phe490=	p.F490=	ENST00000419735	NM_020725.1	490	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS47682.1	1470	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGAATCG	NONE	.	.	hmmpanther:PTHR15117:SF1,hmmpanther:PTHR15117	.	.	ENSP00000410759	.	9/12	.	.	.	.	.	.	.	.	COSM3831549,COSM1083730	9/12	PASS	ENST00000419735	Transcript	.	.	ENSG00000146776	22210	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	AT7L1_HUMAN	ATXN7L1	HGNC	F8WDE7_HUMAN	.	UPI000162C85E	SNV	ATXN7L1,synonymous_variant,p.%3D,ENST00000477775,;ATXN7L1,synonymous_variant,p.%3D,ENST00000388807,;ATXN7L1,synonymous_variant,p.%3D,ENST00000472195,;ATXN7L1,synonymous_variant,p.%3D,ENST00000484475,;ATXN7L1,synonymous_variant,p.%3D,ENST00000419735,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000472910,;ATXN7L1,3_prime_UTR_variant,,ENST00000474433,;	1516	151	202	SUCCESS
GPR22	2845	.	GRCh37	7	107115516	107115516	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	329	32	286	0	ENST00000304402.4:c.1011A>G	p.Leu337=	p.L337=	ENST00000304402	NM_005295.2	337	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5744.1	1011	MUTECT|MUSE|VARSCANS	.	ATTTTATGTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF1,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000302676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304402	Transcript	.	.	ENSG00000172209	4477	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPR22_HUMAN	GPR22	HGNC	Q59G39_HUMAN,A4D0R8_HUMAN	.	UPI000013E975	SNV	GPR22,synonymous_variant,p.%3D,ENST00000304402,;COG5,intron_variant,,ENST00000347053,;COG5,intron_variant,,ENST00000393603,;COG5,intron_variant,,ENST00000297135,;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;	2354	286	361	SUCCESS
ZNF800	168850	.	GRCh37	7	127014269	127014269	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	30	115	0	ENST00000265827.3:c.1121T>C	p.Leu374Pro	p.L374P	ENST00000265827	NM_176814.3	374	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS5795.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTAAGCATT	NONE	.	.	hmmpanther:PTHR21020,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000376989	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000393313	Transcript	.	.	ENSG00000048405	27267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN800_HUMAN	ZNF800	HGNC	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN	.	UPI000020FA03	SNV	ZNF800,missense_variant,p.Leu374Pro,ENST00000393312,;ZNF800,missense_variant,p.Leu374Pro,ENST00000393313,;ZNF800,missense_variant,p.Leu374Pro,ENST00000265827,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000434602,;ZNF800,upstream_gene_variant,,ENST00000485577,;	1713	115	135	SUCCESS
TRPV5	56302	.	GRCh37	7	142605697	142605697	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	30	171	0	ENST00000265310.1:c.2173G>T	p.Glu725Ter	p.E725*	ENST00000265310	NM_019841.4	725	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5875.1	2173	RADIA|MUTECT|MUSE|VARSCANS	.	GACCTCCTCTC	NONE	.	.	hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582	.	.	ENSP00000265310	.	15/15	.	.	.	.	.	.	.	.	COSM3922914	15/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,stop_gained,p.Glu670Ter,ENST00000439304,;TRPV5,stop_gained,p.Glu725Ter,ENST00000265310,;	2522	171	230	SUCCESS
TRPV5	56302	.	GRCh37	7	142627485	142627485	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759831853	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	25	104	0	ENST00000265310.1:c.185G>T	p.Arg62Met	p.R62M	ENST00000265310	NM_019841.4	62	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS5875.1	185	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCTAAGA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000265310	.	2/15	.	.	.	.	.	.	.	.	rs759831853	2/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.08)	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,missense_variant,p.Arg62Met,ENST00000442623,;TRPV5,missense_variant,p.Arg56Met,ENST00000439304,;TRPV5,missense_variant,p.Arg62Met,ENST00000265310,;	534	104	154	SUCCESS
RHEB	6009	.	GRCh37	7	151168477	151168477	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	583	111	432	1	ENST00000262187.5:c.380+3A>T		p.X127_splice	ENST00000262187	NM_005614.3	127		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5927.1	.	RADIA|MUSE|VARSCANS	.	CTACATACCTT	NONE	.	.	.	.	.	ENSP00000262187	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262187	Transcript	.	.	ENSG00000106615	10011	.	.	LOW	6/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHEB_HUMAN	RHEB	HGNC	C9J931_HUMAN	.	UPI0000133863	SNV	RHEB,splice_region_variant,,ENST00000472642,;RHEB,splice_region_variant,,ENST00000262187,;RHEB,splice_region_variant,,ENST00000496004,;RHEB,downstream_gene_variant,,ENST00000470370,;RHEB,splice_region_variant,,ENST00000470072,;RHEB,splice_region_variant,,ENST00000478470,;RHEB,downstream_gene_variant,,ENST00000482053,;	.	434	694	SUCCESS
CHST12	55501	.	GRCh37	7	2472436	2472436	+	synonymous_variant	Silent	SNP	G	G	A	rs142111836	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	105	1	ENST00000258711.6:c.162G>A	p.Pro54=	p.P54=	ENST00000258711	NM_001243794.1	54	ccG/ccA	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS5333.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGACAG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF4	.	A:0.0001	ENSP00000258711	.	2/2	.	.	.	.	.	.	.	.	rs142111836	2/2	PASS	ENST00000258711	Transcript	.	.	ENSG00000136213	17423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTC_HUMAN	CHST12	HGNC	C9J991_HUMAN	.	UPI000004C65C	SNV	CHST12,synonymous_variant,p.%3D,ENST00000258711,;CHST12,synonymous_variant,p.%3D,ENST00000432336,;AC004840.9,upstream_gene_variant,,ENST00000313156,;	297	106	114	SUCCESS
CCT6A	908	.	GRCh37	7	56119530	56119530	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	116	0	ENST00000275603.4:c.-12G>T		p.*4*	ENST00000275603	NM_001762.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5523.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGCTGGA	NONE	.	.	.	.	.	ENSP00000275603	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000275603	Transcript	.	.	ENSG00000146731	1620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPZ_HUMAN	CCT6A	HGNC	.	.	UPI0000136B11	SNV	CCT6A,5_prime_UTR_variant,,ENST00000540286,;CCT6A,5_prime_UTR_variant,,ENST00000275603,;CCT6A,5_prime_UTR_variant,,ENST00000335503,;PSPH,upstream_gene_variant,,ENST00000421312,;PSPH,upstream_gene_variant,,ENST00000275605,;PSPH,upstream_gene_variant,,ENST00000416592,;PSPH,upstream_gene_variant,,ENST00000419984,;PSPH,upstream_gene_variant,,ENST00000424596,;PSPH,upstream_gene_variant,,ENST00000413218,;PSPH,upstream_gene_variant,,ENST00000395471,;SNORA22,upstream_gene_variant,,ENST00000383876,;CCT6A,upstream_gene_variant,,ENST00000493855,;PSPH,upstream_gene_variant,,ENST00000437355,;CCT6A,upstream_gene_variant,,ENST00000482776,;	208	116	120	SUCCESS
CCT6A	908	.	GRCh37	7	56119531	56119531	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1266593914	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	117	0	ENST00000275603.4:c.-11C>T		p.*4*	ENST00000275603	NM_001762.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5523.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGCTGGAG	NONE	.	.	.	.	.	ENSP00000275603	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000275603	Transcript	.	.	ENSG00000146731	1620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPZ_HUMAN	CCT6A	HGNC	.	.	UPI0000136B11	SNV	CCT6A,5_prime_UTR_variant,,ENST00000540286,;CCT6A,5_prime_UTR_variant,,ENST00000275603,;CCT6A,5_prime_UTR_variant,,ENST00000335503,;PSPH,upstream_gene_variant,,ENST00000421312,;PSPH,upstream_gene_variant,,ENST00000275605,;PSPH,upstream_gene_variant,,ENST00000416592,;PSPH,upstream_gene_variant,,ENST00000419984,;PSPH,upstream_gene_variant,,ENST00000424596,;PSPH,upstream_gene_variant,,ENST00000413218,;PSPH,upstream_gene_variant,,ENST00000395471,;SNORA22,upstream_gene_variant,,ENST00000383876,;CCT6A,upstream_gene_variant,,ENST00000493855,;PSPH,upstream_gene_variant,,ENST00000437355,;CCT6A,upstream_gene_variant,,ENST00000482776,;	209	117	120	SUCCESS
ZNF680	340252	.	GRCh37	7	63982713	63982713	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	44	177	0	ENST00000309683.6:c.419A>C	p.Asn140Thr	p.N140T	ENST00000309683	NM_178558.4	140	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS34644.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATTATAA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117	.	.	ENSP00000309330	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309683	Transcript	.	.	ENSG00000173041	26897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	deleterious(0.01)	.	ZN680_HUMAN	ZNF680	HGNC	.	.	UPI000019980A	SNV	ZNF680,missense_variant,p.Asn140Thr,ENST00000309683,;ZNF680,downstream_gene_variant,,ENST00000447137,;ZNF680,non_coding_transcript_exon_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,;	571	177	198	SUCCESS
RHBDD2	57414	.	GRCh37	7	75511209	75511209	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782246048	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	24	114	0	ENST00000006777.6:c.241A>G	p.Ile81Val	p.I81V	ENST00000006777	NM_001040456.1	81	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43602.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTATCATC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF144091,Pfam_domain:PF01694,Gene3D:2xovA00,hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF33	.	.	ENSP00000006777	.	2/4	.	.	.	.	.	.	.	.	rs782246048	2/4	PASS	ENST00000006777	Transcript	.	.	ENSG00000005486	23082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	RHBD2_HUMAN	RHBDD2	HGNC	.	.	UPI0000072213	SNV	RHBDD2,missense_variant,p.Ile81Val,ENST00000006777,;RHBDD2,5_prime_UTR_variant,,ENST00000318622,;RHBDD2,upstream_gene_variant,,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468644,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000466232,;RHBDD2,intron_variant,,ENST00000468304,;RHBDD2,downstream_gene_variant,,ENST00000476218,;RHBDD2,upstream_gene_variant,,ENST00000467406,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;	376	114	125	SUCCESS
PHTF2	57157	.	GRCh37	7	77549626	77549626	+	synonymous_variant	Silent	SNP	A	A	G	rs1257351189	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	21	95	0	ENST00000248550.7:c.807A>G	p.Lys269=	p.K269=	ENST00000248550		269	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47621.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAATCAAC	NONE	.	.	hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,synonymous_variant,p.%3D,ENST00000450574,;PHTF2,synonymous_variant,p.%3D,ENST00000416283,;PHTF2,synonymous_variant,p.%3D,ENST00000422959,;PHTF2,synonymous_variant,p.%3D,ENST00000248550,;PHTF2,synonymous_variant,p.%3D,ENST00000415251,;PHTF2,synonymous_variant,p.%3D,ENST00000307305,;PHTF2,synonymous_variant,p.%3D,ENST00000275575,;PHTF2,synonymous_variant,p.%3D,ENST00000424760,;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;PHTF2,upstream_gene_variant,,ENST00000468351,;	831	95	111	SUCCESS
CD36	948	.	GRCh37	7	80276132	80276132	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	25	158	0	ENST00000309881.7:c.76C>G	p.Leu26Val	p.L26V	ENST00000309881	NM_001001547.2	26	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS34673.1	76	RADIA|MUTECT|MUSE|VARSCANS	.	GTATTCTAATG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01610,Pfam_domain:PF01130,hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF12	.	.	ENSP00000399421	.	6/17	.	.	.	.	.	.	.	.	COSM1452206,COSM1452203,COSM1452205,COSM1452204	6/17	PASS	ENST00000435819	Transcript	.	.	ENSG00000135218	1663	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	probably_damaging(0.927)	.	deleterious(0.04)	1,1,1,1	CD36_HUMAN	CD36	HGNC	Q9BZN6_HUMAN,Q9BZN2_HUMAN,Q9BZM9_HUMAN,Q9BQA7_HUMAN,E9PLT1_HUMAN,E9PJX8_HUMAN,E9PC45_HUMAN,E7EX47_HUMAN,E7EWI4_HUMAN,E7EU05_HUMAN,E7ERZ9_HUMAN,A4D1B1_HUMAN	.	UPI0000000C91	SNV	CD36,missense_variant,p.Leu26Val,ENST00000436384,;CD36,missense_variant,p.Leu26Val,ENST00000538969,;CD36,missense_variant,p.Leu26Val,ENST00000309881,;CD36,missense_variant,p.Leu26Val,ENST00000544133,;CD36,missense_variant,p.Leu26Val,ENST00000435819,;CD36,missense_variant,p.Leu26Val,ENST00000419819,;CD36,missense_variant,p.Leu26Val,ENST00000432207,;CD36,missense_variant,p.Leu26Val,ENST00000433696,;CD36,missense_variant,p.Leu26Val,ENST00000447544,;CD36,missense_variant,p.Leu26Val,ENST00000413265,;CD36,missense_variant,p.Leu26Val,ENST00000426978,;CD36,missense_variant,p.Leu26Val,ENST00000428497,;CD36,missense_variant,p.Leu26Val,ENST00000482059,;CD36,missense_variant,p.Leu26Val,ENST00000438020,;CD36,missense_variant,p.Leu26Val,ENST00000394788,;CD36,intron_variant,,ENST00000534394,;CD36,non_coding_transcript_exon_variant,,ENST00000441109,;CD36,downstream_gene_variant,,ENST00000526804,;CD36,missense_variant,p.Leu26Val,ENST00000441034,;CD36,non_coding_transcript_exon_variant,,ENST00000480599,;	760	158	150	SUCCESS
PCLO	27445	.	GRCh37	7	82584346	82584346	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	29	131	0	ENST00000333891.9:c.5923A>G	p.Thr1975Ala	p.T1975A	ENST00000333891	NM_033026.5	1975	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47630.1	5923	RADIA|MUTECT|MUSE	.	CCTTGTTAGCA	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Thr1975Ala,ENST00000333891,;PCLO,missense_variant,p.Thr1975Ala,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	6261	131	149	SUCCESS
PCLO	27445	.	GRCh37	7	82584348	82584348	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	28	133	0	ENST00000333891.9:c.5921T>C	p.Leu1974Pro	p.L1974P	ENST00000333891	NM_033026.5	1974	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS47630.1	5921	RADIA|MUTECT|MUSE	.	TTGTTAGCAGA	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Leu1974Pro,ENST00000333891,;PCLO,missense_variant,p.Leu1974Pro,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	6259	133	146	SUCCESS
ADAM22	53616	.	GRCh37	7	87780310	87780310	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	19	141	0	ENST00000265727.7:c.1581T>A	p.Ile527=	p.I527=	ENST00000265727		527	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47637.1	1581	RADIA|MUTECT|MUSE|VARSCANS	.	AATATTCATAA	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000265727	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000265727	Transcript	.	.	ENSG00000008277	201	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADA22_HUMAN	ADAM22	HGNC	Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN	.	UPI00001254DC	SNV	ADAM22,synonymous_variant,p.%3D,ENST00000398209,;ADAM22,synonymous_variant,p.%3D,ENST00000398203,;ADAM22,synonymous_variant,p.%3D,ENST00000315984,;ADAM22,synonymous_variant,p.%3D,ENST00000265727,;ADAM22,synonymous_variant,p.%3D,ENST00000398201,;ADAM22,synonymous_variant,p.%3D,ENST00000398204,;	1660	141	194	SUCCESS
ADAP1	11033	.	GRCh37	7	959636	959636	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	23	0	ENST00000265846.5:c.357C>T	p.Ile119=	p.I119=	ENST00000265846	NM_006869.2	119	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5318.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTAGATGAA	NONE	.	.	Superfamily_domains:SSF57863,SMART_domains:SM00105,Pfam_domain:PF01412,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF219,PROSITE_profiles:PS50115	.	.	ENSP00000265846	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000265846	Transcript	.	.	ENSG00000105963	16486	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAP1_HUMAN	ADAP1	HGNC	H7C2Q4_HUMAN	.	UPI000013D694	SNV	ADAP1,synonymous_variant,p.%3D,ENST00000437486,;ADAP1,synonymous_variant,p.%3D,ENST00000449296,;ADAP1,synonymous_variant,p.%3D,ENST00000446141,;ADAP1,synonymous_variant,p.%3D,ENST00000265846,;ADAP1,synonymous_variant,p.%3D,ENST00000539900,;ADAP1,synonymous_variant,p.%3D,ENST00000453823,;ADAP1,synonymous_variant,p.%3D,ENST00000435943,;ADAP1,synonymous_variant,p.%3D,ENST00000454383,;ADAP1,non_coding_transcript_exon_variant,,ENST00000463358,;ADAP1,non_coding_transcript_exon_variant,,ENST00000488527,;ADAP1,non_coding_transcript_exon_variant,,ENST00000477906,;COX19,3_prime_UTR_variant,,ENST00000457254,;ADAP1,non_coding_transcript_exon_variant,,ENST00000495686,;	577	23	33	SUCCESS
ZNF3	7551	.	GRCh37	7	99669473	99669494	+	frameshift_variant	Frame_Shift_Del	DEL	TTCGATTAAAGCTCTTGCTACA	TTCGATTAAAGCTCTTGCTACA	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	TTCGATTAAAGCTCTTGCTACA	TTCGATTAAAGCTCTTGCTACA	.	.	.	.	.	.	.	.	.	.	.	.	.	153	23	101	0	ENST00000299667.4:c.613_634del	p.Cys205LeufsTer213	p.C205Lfs*213	ENST00000299667		205	TGTAGCAAGAGCTTTAATCGAAct/ct	0	.	.	.	.	.	-	CSKSFNRT/X	protein_coding	YES	CCDS43619.1	613-634	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAAGTTCGATTAAAGCTCTTGCTACATTCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000306372	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000303915	Transcript	.	.	ENSG00000166526	13089	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF3_HUMAN	ZNF3	HGNC	Q86U76_HUMAN,C9JK31_HUMAN,C9JIW8_HUMAN,C9JE35_HUMAN,C9J5S8_HUMAN	.	UPI000000D9B2	deletion	ZNF3,frameshift_variant,p.Cys205LeufsTer213,ENST00000303915,;ZNF3,frameshift_variant,p.Cys205LeufsTer213,ENST00000424697,;ZNF3,frameshift_variant,p.Cys205LeufsTer213,ENST00000299667,;ZNF3,intron_variant,,ENST00000413658,;ZNF3,downstream_gene_variant,,ENST00000415068,;ZNF3,downstream_gene_variant,,ENST00000428683,;ZNF3,downstream_gene_variant,,ENST00000441298,;ZNF3,downstream_gene_variant,,ENST00000412947,;ZNF3,downstream_gene_variant,,ENST00000449785,;ZNF3,downstream_gene_variant,,ENST00000292393,;ZNF3,non_coding_transcript_exon_variant,,ENST00000487620,;ZNF3,downstream_gene_variant,,ENST00000466121,;ZNF3,downstream_gene_variant,,ENST00000460331,;ZNF3,downstream_gene_variant,,ENST00000485892,;	1581-1602	101	176	SUCCESS
SPAG1	6674	.	GRCh37	8	101251571	101251571	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	445	160	316	1	ENST00000251809.3:c.2219T>C	p.Leu740Pro	p.L740P	ENST00000251809	NM_172218.2	740	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS34930.1	2219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCTTAAGG	NONE	.	.	hmmpanther:PTHR22904:SF310,hmmpanther:PTHR22904,Gene3D:1.25.40.10	.	.	ENSP00000373450	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000388798	Transcript	1	.	ENSG00000104450	11212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.08)	.	SPAG1_HUMAN	SPAG1	HGNC	.	.	UPI000016783D	SNV	SPAG1,missense_variant,p.Leu740Pro,ENST00000388798,;SPAG1,missense_variant,p.Leu740Pro,ENST00000251809,;SPAG1,upstream_gene_variant,,ENST00000519409,;SPAG1,non_coding_transcript_exon_variant,,ENST00000519424,;	2410	318	605	SUCCESS
GPT	2875	.	GRCh37	8	145730798	145730798	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	51	136	0	ENST00000394955.2:c.665A>C	p.His222Pro	p.H222P	ENST00000394955	NM_005309.2	222	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS6430.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCACCGTG	NONE	.	.	hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF308,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000378408	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000394955	Transcript	.	.	ENSG00000167701	4552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	deleterious(0.01)	.	ALAT1_HUMAN	GPT	HGNC	.	.	UPI0000001054	SNV	GPT,missense_variant,p.His222Pro,ENST00000528431,;GPT,missense_variant,p.His222Pro,ENST00000394955,;MFSD3,upstream_gene_variant,,ENST00000301327,;PPP1R16A,downstream_gene_variant,,ENST00000528430,;PPP1R16A,downstream_gene_variant,,ENST00000435887,;PPP1R16A,downstream_gene_variant,,ENST00000292539,;CTD-2517M22.14,non_coding_transcript_exon_variant,,ENST00000527086,;GPT,non_coding_transcript_exon_variant,,ENST00000527165,;GPT,non_coding_transcript_exon_variant,,ENST00000534702,;PPP1R16A,downstream_gene_variant,,ENST00000526183,;PPP1R16A,downstream_gene_variant,,ENST00000532806,;GPT,downstream_gene_variant,,ENST00000354769,;PPP1R16A,downstream_gene_variant,,ENST00000526564,;GPT,downstream_gene_variant,,ENST00000531330,;CTD-2517M22.14,upstream_gene_variant,,ENST00000528690,;MFSD3,upstream_gene_variant,,ENST00000534427,;MFSD3,upstream_gene_variant,,ENST00000528047,;MFSD3,upstream_gene_variant,,ENST00000526749,;GPT,downstream_gene_variant,,ENST00000527961,;	888	137	216	SUCCESS
MTUS1	57509	.	GRCh37	8	17612099	17612099	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	47	99	0	ENST00000262102.6:c.1218C>T	p.Gly406=	p.G406=	ENST00000262102	NM_001001924.2	406	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43717.1	1218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGAGCCCAC	NONE	.	.	hmmpanther:PTHR24200:SF7,hmmpanther:PTHR24200	.	.	ENSP00000262102	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000262102	Transcript	1	.	ENSG00000129422	29789	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTUS1_HUMAN	MTUS1	HGNC	.	.	UPI000003FF3C	SNV	MTUS1,synonymous_variant,p.%3D,ENST00000381862,;MTUS1,synonymous_variant,p.%3D,ENST00000381869,;MTUS1,synonymous_variant,p.%3D,ENST00000519263,;MTUS1,synonymous_variant,p.%3D,ENST00000262102,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,synonymous_variant,p.%3D,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;	1443	99	80	SUCCESS
WRN	7486	.	GRCh37	8	30958398	30958398	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	102	0	ENST00000298139.5:c.2015G>A	p.Cys672Tyr	p.C672Y	ENST00000298139	NM_000553.4	672	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS6082.1	2015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGTATTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF00270,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00614,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF80,PROSITE_profiles:PS51192	.	.	ENSP00000298139	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000298139	Transcript	1	.	ENSG00000165392	12791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	WRN_HUMAN	WRN	HGNC	.	.	UPI000013E49D	SNV	WRN,missense_variant,p.Cys672Tyr,ENST00000298139,;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	2264	102	58	SUCCESS
KAT6A	7994	.	GRCh37	8	41905925	41905925	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1057523324	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	22	190	0	ENST00000265713.2:c.571G>T	p.Val191Leu	p.V191L	ENST00000265713	NM_006766.3	191	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS6124.1	571	MUTECT|MUSE|VARSCANS	.	GGACACTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615	.	.	ENSP00000380136	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000396930	Transcript	1	.	ENSG00000083168	13013	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.928)	.	.	.	KAT6A_HUMAN	KAT6A	HGNC	A5PKX7_HUMAN	.	UPI000013D666	SNV	KAT6A,missense_variant,p.Val191Leu,ENST00000396930,;KAT6A,missense_variant,p.Val191Leu,ENST00000406337,;KAT6A,missense_variant,p.Val191Leu,ENST00000485568,;KAT6A,missense_variant,p.Val191Leu,ENST00000265713,;KAT6A,downstream_gene_variant,,ENST00000426524,;SNORD112,upstream_gene_variant,,ENST00000459551,;	1115	190	243	SUCCESS
PRKDC	5591	.	GRCh37	8	48774689	48774689	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	11	91	0	ENST00000314191.2:c.5917-1G>T		p.X1973_splice	ENST00000314191	NM_006904.6	1973		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCTGTGA	NONE	.	.	.	.	.	ENSP00000313420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	44/86	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,splice_acceptor_variant,,ENST00000338368,;PRKDC,splice_acceptor_variant,,ENST00000314191,;PRKDC,splice_acceptor_variant,,ENST00000518216,;PRKDC,splice_acceptor_variant,,ENST00000523565,;PRKDC,downstream_gene_variant,,ENST00000546304,;	.	91	105	SUCCESS
MMP16	4325	.	GRCh37	8	89068475	89068475	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	285	59	262	0	ENST00000286614.6:c.1254T>C	p.Thr418=	p.T418=	ENST00000286614	NM_005941.4	418	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS6246.1	1254	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGAGTTGT	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000286614	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,synonymous_variant,p.%3D,ENST00000286614,;	1536	263	345	SUCCESS
CPQ	10404	.	GRCh37	8	97797311	97797311	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	132	198	0	ENST00000220763.5:c.186A>C	p.Arg62Ser	p.R62S	ENST00000220763	NM_016134.3	62	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS6273.1	186	RADIA|MUTECT|MUSE	.	AACAGATCCTA	NONE	.	.	Gene3D:3.40.630.10,hmmpanther:PTHR12053	.	.	ENSP00000220763	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000220763	Transcript	.	.	ENSG00000104324	16910	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.017)	.	tolerated(0.16)	.	CBPQ_HUMAN	CPQ	HGNC	E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN	.	UPI00000706B8	SNV	CPQ,missense_variant,p.Arg62Ser,ENST00000519900,;CPQ,missense_variant,p.Arg62Ser,ENST00000517742,;CPQ,missense_variant,p.Arg62Ser,ENST00000521142,;CPQ,missense_variant,p.Arg62Ser,ENST00000519484,;CPQ,missense_variant,p.Arg62Ser,ENST00000220763,;CPQ,non_coding_transcript_exon_variant,,ENST00000525310,;	396	198	353	SUCCESS
CPQ	10404	.	GRCh37	8	97797316	97797316	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs780125284	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	137	203	0	ENST00000220763.5:c.191A>G	p.Tyr64Cys	p.Y64C	ENST00000220763	NM_016134.3	64	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6273.1	191	RADIA|MUTECT|MUSE	.	ATCCTATGAGC	NONE	.	.	Gene3D:3.40.630.10,hmmpanther:PTHR12053	.	.	ENSP00000220763	.	2/8	.	.	.	.	.	.	.	.	rs780125284	2/8	PASS	ENST00000220763	Transcript	.	.	ENSG00000104324	16910	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	CBPQ_HUMAN	CPQ	HGNC	E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN	.	UPI00000706B8	SNV	CPQ,missense_variant,p.Tyr64Cys,ENST00000519900,;CPQ,missense_variant,p.Tyr64Cys,ENST00000517742,;CPQ,missense_variant,p.Tyr64Cys,ENST00000521142,;CPQ,missense_variant,p.Tyr64Cys,ENST00000519484,;CPQ,missense_variant,p.Tyr64Cys,ENST00000220763,;CPQ,non_coding_transcript_exon_variant,,ENST00000525310,;	401	203	362	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123342428	123342428	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs781380022	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	40	0	ENST00000349780.4:c.-172C>T		p.*58*	ENST00000349780	NM_018249.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6823.1	.	MUTECT|MUSE	.	CCGGCGCTTCT	NONE	byCluster	.	.	.	.	ENSP00000343818	.	1/38	.	.	.	.	.	.	.	.	rs781380022	1/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,5_prime_UTR_variant,,ENST00000349780,;CDK5RAP2,5_prime_UTR_variant,,ENST00000360190,;CDK5RAP2,5_prime_UTR_variant,,ENST00000360822,;CDK5RAP2,5_prime_UTR_variant,,ENST00000359309,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000491334,;CDK5RAP2,upstream_gene_variant,,ENST00000480112,;CDK5RAP2,upstream_gene_variant,,ENST00000473282,;CDK5RAP2,upstream_gene_variant,,ENST00000481266,;	9	40	55	SUCCESS
CNTRL	11064	.	GRCh37	9	123875959	123875959	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	71	1	ENST00000238341.5:c.1302A>G	p.Pro434=	p.P434=	ENST00000238341	NM_007018.4	434	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS35118.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCACTGGA	NONE	.	.	hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	.	.	ENSP00000362962	.	10/44	.	.	.	.	.	.	.	.	.	10/44	PASS	ENST00000373855	Transcript	.	.	ENSG00000119397	1858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,synonymous_variant,p.%3D,ENST00000373855,;CNTRL,synonymous_variant,p.%3D,ENST00000373865,;CNTRL,synonymous_variant,p.%3D,ENST00000238341,;CNTRL,upstream_gene_variant,,ENST00000373850,;CNTRL,non_coding_transcript_exon_variant,,ENST00000468952,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;	1562	72	88	SUCCESS
PKN3	29941	.	GRCh37	9	131468992	131468992	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1194287170	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	54	0	ENST00000291906.4:c.412G>A	p.Glu138Lys	p.E138K	ENST00000291906	NM_013355.3	138	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS6908.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGGAGAGG	NONE	.	.	Superfamily_domains:SSF46585,SMART_domains:SM00742,Gene3D:1.10.287.160,Pfam_domain:PF02185,hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357	.	.	ENSP00000291906	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000291906	Transcript	.	.	ENSG00000160447	17999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.684)	.	deleterious(0.04)	.	PKN3_HUMAN	PKN3	HGNC	Q05BU1_HUMAN	.	UPI000013E087	SNV	PKN3,missense_variant,p.Glu138Lys,ENST00000291906,;RN7SL560P,upstream_gene_variant,,ENST00000577943,;	805	54	58	SUCCESS
NUP214	8021	.	GRCh37	9	134004694	134004694	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772631965	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	125	0	ENST00000359428.5:c.422A>G	p.Tyr141Cys	p.Y141C	ENST00000359428	NM_005085.3	141	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6940.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTATCATA	NONE	byFrequency	.	Superfamily_domains:SSF117289,SMART_domains:SM00320,Gene3D:2.130.10.10	.	.	ENSP00000352400	.	4/36	.	.	.	.	.	.	.	.	rs772631965	4/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Tyr141Cys,ENST00000451030,;NUP214,missense_variant,p.Tyr141Cys,ENST00000359428,;NUP214,missense_variant,p.Tyr51Cys,ENST00000531584,;NUP214,missense_variant,p.Tyr141Cys,ENST00000411637,;RNU6-881P,downstream_gene_variant,,ENST00000516813,;RP11-544A12.4,downstream_gene_variant,,ENST00000587264,;RP11-544A12.4,downstream_gene_variant,,ENST00000586290,;RP11-544A12.4,downstream_gene_variant,,ENST00000588378,;RP11-544A12.4,downstream_gene_variant,,ENST00000589667,;RP11-544A12.4,downstream_gene_variant,,ENST00000587408,;RP11-544A12.4,downstream_gene_variant,,ENST00000589540,;NUP214,non_coding_transcript_exon_variant,,ENST00000526412,;NUP214,upstream_gene_variant,,ENST00000530843,;NUP214,upstream_gene_variant,,ENST00000525561,;	566	125	134	SUCCESS
DBH	1621	.	GRCh37	9	136505113	136505113	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	60	1	ENST00000393056.2:c.485A>T	p.Glu162Val	p.E162V	ENST00000393056	NM_000787.3	162	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6977.2	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGAAGTAA	BUFFER|p.E162E|c.486A>G|3	.	.	PROSITE_profiles:PS50836,hmmpanther:PTHR10157:SF4,hmmpanther:PTHR10157,Pfam_domain:PF03351,SMART_domains:SM00664,Prints_domain:PR00767	.	.	ENSP00000376776	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000393056	Transcript	.	.	ENSG00000123454	2689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	DOPO_HUMAN	DBH	HGNC	.	.	UPI0000E5D219	SNV	DBH,missense_variant,p.Glu162Val,ENST00000393056,;DBH,intron_variant,,ENST00000263611,;	497	61	66	SUCCESS
COL5A1	1289	.	GRCh37	9	137642421	137642421	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs374204025	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	70	0	ENST00000371817.3:c.1528G>C	p.Asp510His	p.D510H	ENST00000371817	NM_001278074.1	510	Gat/Cat	0	A:0	.	.	.	.	C	D/H	protein_coding	YES	CCDS6982.1	1528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGATGGC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	A:0.0002	ENSP00000360882	.	12/66	.	.	.	.	.	.	.	.	rs374204025	12/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Asp510His,ENST00000371817,;	1942	70	68	SUCCESS
FCN1	2219	.	GRCh37	9	137809681	137809681	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773091298	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	73	0	ENST00000371806.3:c.37G>A	p.Ala13Thr	p.A13T	ENST00000371806	NM_002003.3	13	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6985.1	37	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCGAGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19143:SF165,hmmpanther:PTHR19143	.	.	ENSP00000360871	.	1/9	.	.	.	.	.	.	.	.	rs773091298,COSM455571	1/9	PASS	ENST00000371806	Transcript	.	.	ENSG00000085265	3623	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.001)	.	tolerated(0.63)	0,1	FCN1_HUMAN	FCN1	HGNC	Q92531_HUMAN	.	UPI000012A5A7	SNV	FCN1,missense_variant,p.Ala13Thr,ENST00000371806,;	129	73	66	SUCCESS
QSOX2	169714	.	GRCh37	9	139100947	139100947	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1025997751	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	95	0	ENST00000358701.5:c.1724A>G	p.Gln575Arg	p.Q575R	ENST00000358701	NM_181701.3	575	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS35178.1	1724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTGGTCT	NONE	.	.	hmmpanther:PTHR22897:SF7,hmmpanther:PTHR22897	.	.	ENSP00000351536	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000358701	Transcript	.	.	ENSG00000165661	30249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.55)	.	QSOX2_HUMAN	QSOX2	HGNC	.	.	UPI00004A7AC1	SNV	QSOX2,missense_variant,p.Gln575Arg,ENST00000358701,;QSOX2,downstream_gene_variant,,ENST00000455222,;LHX3,upstream_gene_variant,,ENST00000371748,;	1762	95	82	SUCCESS
GRIN1	2902	.	GRCh37	9	140051158	140051158	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	50	98	0	ENST00000371561.3:c.709A>G	p.Met237Val	p.M237V	ENST00000371561	NM_007327.3	237	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS55354.1	772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGATGCTG	NONE	.	.	hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000360608	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.56)	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Met258Val,ENST00000371555,;GRIN1,missense_variant,p.Met237Val,ENST00000315048,;GRIN1,missense_variant,p.Met237Val,ENST00000371561,;GRIN1,missense_variant,p.Met237Val,ENST00000371550,;GRIN1,missense_variant,p.Met237Val,ENST00000350902,;GRIN1,missense_variant,p.Met258Val,ENST00000371553,;GRIN1,missense_variant,p.Met237Val,ENST00000371559,;GRIN1,missense_variant,p.Met258Val,ENST00000371546,;GRIN1,missense_variant,p.Met258Val,ENST00000371560,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000485413,;	778	98	115	SUCCESS
CNTLN	54875	.	GRCh37	9	17330664	17330664	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757011942	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	319	75	421	0	ENST00000380647.3:c.1376C>T	p.Thr459Met	p.T459M	ENST00000380647		459	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS43789.1	1376	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACGTTAA	NONE	byFrequency	.	hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	9/26	.	.	.	.	.	.	.	.	rs757011942	9/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.853)	.	tolerated(0.08)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Thr459Met,ENST00000425824,;CNTLN,missense_variant,p.Thr459Met,ENST00000262360,;CNTLN,missense_variant,p.Thr459Met,ENST00000380647,;	1460	421	395	SUCCESS
FAM154A	0	.	GRCh37	9	18928249	18928249	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	103	0	ENST00000380534.4:c.1226C>A	p.Thr409Asn	p.T409N	ENST00000380534	NM_153707.2	409	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS6487.1	1226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGTGTAG	NONE	.	.	hmmpanther:PTHR31516,hmmpanther:PTHR31516:SF5	.	.	ENSP00000369907	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000380534	Transcript	.	.	ENSG00000155875	28566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.23)	.	F154A_HUMAN	FAM154A	HGNC	F6S232_HUMAN	.	UPI0000367609	SNV	FAM154A,missense_variant,p.Thr217Asn,ENST00000542071,;FAM154A,missense_variant,p.Thr409Asn,ENST00000380534,;FAM154A,3_prime_UTR_variant,,ENST00000380530,;	1506	103	113	SUCCESS
CDKN2A	1029	.	GRCh37	9	21974713	21974713	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	40	0	ENST00000304494.5:c.114del	p.Asn39ThrfsTer14	p.N39Tfs*14	ENST00000304494	NM_000077.4	38	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS56565.1	114	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCGTTGGGCAG	CODON|p.0?|c.1_471del471|15,BUFFER|p.L32_L37del|c.94_111del18|3,BUFFER|p.G35E|c.104G>A|3	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF00023,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	deletion	CDKN2A,frameshift_variant,p.Asn39ThrfsTer14,ENST00000446177,;CDKN2A,frameshift_variant,p.Asn39ThrfsTer14,ENST00000304494,;CDKN2A,frameshift_variant,p.Asn39ThrfsTer14,ENST00000498124,;CDKN2A,frameshift_variant,p.Asn39ThrfsTer14,ENST00000579122,;CDKN2A,intron_variant,,ENST00000579755,;CDKN2A,intron_variant,,ENST00000494262,;CDKN2A,intron_variant,,ENST00000498628,;CDKN2A,intron_variant,,ENST00000530628,;CDKN2A,intron_variant,,ENST00000361570,;CDKN2A,upstream_gene_variant,,ENST00000578845,;CDKN2A,upstream_gene_variant,,ENST00000479692,;CDKN2A,upstream_gene_variant,,ENST00000497750,;CDKN2A,upstream_gene_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,frameshift_variant,p.Asn39ThrfsTer90,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	153	40	43	SUCCESS
AK3	50808	.	GRCh37	9	4713077	4713077	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	60	0	ENST00000381809.3:c.583A>G	p.Thr195Ala	p.T195A	ENST00000381809	NM_016282.3	195	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6455.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGTTTCCA	NONE	.	.	HAMAP:MF_03169,HAMAP:MF_00235,hmmpanther:PTHR23359:SF68,hmmpanther:PTHR23359,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR01351,Superfamily_domains:SSF52540	.	.	ENSP00000371230	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000381809	Transcript	.	.	ENSG00000147853	17376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.05)	.	KAD3_HUMAN	AK3	HGNC	.	.	UPI000013DAE5	SNV	AK3,missense_variant,p.Thr155Ala,ENST00000447596,;AK3,missense_variant,p.Thr195Ala,ENST00000381809,;AK3,missense_variant,p.Thr125Ala,ENST00000359883,;CDC37L1,downstream_gene_variant,,ENST00000381854,;	814	60	63	SUCCESS
NTRK2	4915	.	GRCh37	9	87359975	87359975	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs752393508	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	20	151	0	ENST00000277120.3:c.1285del	p.Glu429AsnfsTer10	p.E429Nfs*10	ENST00000277120		428	cGg/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS6671.1	1283	VARSCANI*|PINDEL	.	CCGGTCGGGAAC	NONE	byFrequency	.	hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416	.	.	ENSP00000365387	.	13/21	.	.	.	.	.	.	.	.	rs752393508	13/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	deletion	NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000323115,;NTRK2,frameshift_variant,p.Glu273AsnfsTer10,ENST00000395866,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000395882,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000376213,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000376208,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000277120,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000376214,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000359847,;NTRK2,frameshift_variant,p.Glu429AsnfsTer10,ENST00000304053,;	2221	151	200	SUCCESS
ARMCX2	9823	.	GRCh37	X	100911407	100911407	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	57	0	ENST00000328766.5:c.1168A>G	p.Lys390Glu	p.K390E	ENST00000328766	NM_014782.5	390	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14490.1	1168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTTCCTGA	NONE	.	.	hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	.	.	ENSP00000331662	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000328766	Transcript	.	.	ENSG00000184867	16869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	ARMX2_HUMAN	ARMCX2	HGNC	Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN	.	UPI0000071305	SNV	ARMCX2,missense_variant,p.Lys390Glu,ENST00000356824,;ARMCX2,missense_variant,p.Lys390Glu,ENST00000328766,;ARMCX2,missense_variant,p.Lys390Glu,ENST00000330154,;ARMCX2,downstream_gene_variant,,ENST00000431597,;ARMCX2,downstream_gene_variant,,ENST00000458024,;ARMCX2,downstream_gene_variant,,ENST00000440675,;ARMCX2,downstream_gene_variant,,ENST00000433318,;ARMCX2,downstream_gene_variant,,ENST00000413506,;ARMCX2,downstream_gene_variant,,ENST00000467416,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000479333,;	1622	57	55	SUCCESS
LHFPL1	340596	.	GRCh37	X	111914512	111914512	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	95	0	ENST00000371968.3:c.107C>G	p.Ser36Cys	p.S36C	ENST00000371968	NM_178175.3	36	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS14562.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGATCCA	NONE	.	.	hmmpanther:PTHR12489:SF15,hmmpanther:PTHR12489,Pfam_domain:PF10242	.	.	ENSP00000361036	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000371968	Transcript	.	.	ENSG00000182508	6587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.03)	.	LHPL1_HUMAN	LHFPL1	HGNC	.	.	UPI00000622AD	SNV	LHFPL1,missense_variant,p.Ser36Cys,ENST00000371968,;LHFPL1,missense_variant,p.Ser36Cys,ENST00000536453,;LHFPL1,intron_variant,,ENST00000478229,;	347	95	118	SUCCESS
MAGEA9B	728269	.	GRCh37	X	148664900	148664900	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	81	246	0	ENST00000243314.5:c.-65G>A		p.X22_splice	ENST00000243314	NM_001080790.1	22		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35423.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGCCTGGG	NONE	.	.	.	.	.	ENSP00000243314	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243314	Transcript	.	.	ENSG00000123584	31909	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA9_HUMAN	MAGEA9B	HGNC	E5RJI2_HUMAN,E5RJ34_HUMAN,E5RH97_HUMAN,E5RFS8_HUMAN	.	UPI000012EB2B	SNV	MAGEA9B,splice_region_variant,,ENST00000243314,;	223	246	185	SUCCESS
SPRY3	10251	.	GRCh37	X	155004067	155004067	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	45	121	0	ENST00000302805.2:c.534T>C	p.Ala178=	p.A178=	ENST00000302805	NM_005840.1	178	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS14769.4	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGAGAG	NONE	.	.	PROSITE_profiles:PS51227,hmmpanther:PTHR12365:SF9,hmmpanther:PTHR12365,Pfam_domain:PF05210	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,synonymous_variant,p.%3D,ENST00000302805,;	965	121	114	SUCCESS
ASMT	438	.	GRCh37	X	1761898	1761898	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	35	238	0	ENST00000381229.4:c.1029C>G	p.Ala343=	p.A343=	ENST00000381229		343	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS14117.1	1113	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCCAGGAA	NONE	.	.	PROSITE_profiles:PS51683,hmmpanther:PTHR11746,hmmpanther:PTHR11746:SF71,Gene3D:3.40.50.150,PIRSF_domain:PIRSF005739	.	.	ENSP00000370639	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000381241	Transcript	.	.	ENSG00000196433	750	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASMT_HUMAN	ASMT	HGNC	.	.	UPI00001AEDD0	SNV	ASMT,synonymous_variant,p.%3D,ENST00000381229,;ASMT,synonymous_variant,p.%3D,ENST00000381241,;ASMT,synonymous_variant,p.%3D,ENST00000432523,;ASMT,synonymous_variant,p.%3D,ENST00000381233,;	1312	238	269	SUCCESS
MED14	9282	.	GRCh37	X	40526045	40526045	+	synonymous_variant	Silent	SNP	T	T	C	rs756084159	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	45	196	0	ENST00000324817.1:c.3192A>G	p.Ser1064=	p.S1064=	ENST00000324817	NM_004229.3	1064	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS14254.1	3192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATGACGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2	.	.	ENSP00000323720	.	24/31	.	.	.	.	.	.	.	.	rs756084159	24/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,synonymous_variant,p.%3D,ENST00000324817,;MED14,upstream_gene_variant,,ENST00000433003,;	3311	196	163	SUCCESS
RBM10	8241	.	GRCh37	X	47039334	47039345	+	inframe_deletion	In_Frame_Del	DEL	CCTGGCACCCTA	CCTGGCACCCTA	-	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	CCTGGCACCCTA	CCTGGCACCCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	93	25	115	0	ENST00000329236.7:c.727_738del	p.Leu243_Tyr246del	p.L243_Y246del	ENST00000329236	NM_001204466.1	242	gcCCTGGCACCCTAc/gcc	0	.	.	.	.	.	-	ALAPY/A	protein_coding	YES	CCDS14274.1	957-968	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGGCCCTGGCACCCTACGCGG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13948:SF4,hmmpanther:PTHR13948,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000366829	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000377604	Transcript	.	.	ENSG00000182872	9896	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBM10_HUMAN	RBM10	HGNC	.	.	UPI0000070DF1	deletion	RBM10,inframe_deletion,p.Leu243_Tyr246del,ENST00000329236,;RBM10,inframe_deletion,p.Leu320_Tyr323del,ENST00000377604,;RBM10,inframe_deletion,p.Leu243_Tyr246del,ENST00000345781,;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,;RBM10,intron_variant,,ENST00000496012,;	1699-1710	115	118	SUCCESS
HDAC6	10013	.	GRCh37	X	48673109	48673109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	24	39	0	ENST00000334136.5:c.961G>T	p.Ala321Ser	p.A321S	ENST00000334136		321	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14306.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTGCTGCT	NONE	.	.	hmmpanther:PTHR10625:SF102,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,Superfamily_domains:SSF52768	.	.	ENSP00000334061	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000334136	Transcript	.	.	ENSG00000094631	14064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.705)	.	tolerated(0.23)	.	HDAC6_HUMAN	HDAC6	HGNC	E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN	.	UPI0000073E04	SNV	HDAC6,missense_variant,p.Ala321Ser,ENST00000376619,;HDAC6,missense_variant,p.Ala321Ser,ENST00000334136,;HDAC6,missense_variant,p.Ala266Ser,ENST00000413163,;HDAC6,missense_variant,p.Ala335Ser,ENST00000444343,;HDAC6,upstream_gene_variant,,ENST00000498808,;HDAC6,upstream_gene_variant,,ENST00000480525,;HDAC6,upstream_gene_variant,,ENST00000486665,;HDAC6,non_coding_transcript_exon_variant,,ENST00000478095,;HDAC6,non_coding_transcript_exon_variant,,ENST00000477528,;HDAC6,non_coding_transcript_exon_variant,,ENST00000486227,;HDAC6,upstream_gene_variant,,ENST00000495515,;HDAC6,upstream_gene_variant,,ENST00000485102,;HDAC6,upstream_gene_variant,,ENST00000488905,;HDAC6,upstream_gene_variant,,ENST00000470942,;HDAC6,upstream_gene_variant,,ENST00000483506,;HDAC6,upstream_gene_variant,,ENST00000488543,;HDAC6,upstream_gene_variant,,ENST00000465457,;HDAC6,upstream_gene_variant,,ENST00000489053,;	1139	39	32	SUCCESS
PHKA1	5255	.	GRCh37	X	71838613	71838613	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs781955694	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	133	0	ENST00000373542.4:c.2316G>C	p.Glu772Asp	p.E772D	ENST00000373542	NM_002637.3	772	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS14421.1	2316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCTCCTT	NONE	.	.	hmmpanther:PTHR10749:SF4,hmmpanther:PTHR10749,Pfam_domain:PF00723	.	.	ENSP00000362643	.	21/32	.	.	.	.	.	.	.	.	rs781955694	21/32	PASS	ENST00000373542	Transcript	.	.	ENSG00000067177	8925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.52)	.	KPB1_HUMAN	PHKA1	HGNC	.	.	UPI000013D340	SNV	PHKA1,missense_variant,p.Glu713Asp,ENST00000373545,;PHKA1,missense_variant,p.Glu772Asp,ENST00000339490,;PHKA1,missense_variant,p.Glu772Asp,ENST00000373542,;PHKA1,missense_variant,p.Glu713Asp,ENST00000541944,;PHKA1,missense_variant,p.Glu772Asp,ENST00000373539,;	2476	133	115	SUCCESS
PHKA1	5255	.	GRCh37	X	71838663	71838663	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	116	0	ENST00000373542.4:c.2266G>C	p.Asp756His	p.D756H	ENST00000373542	NM_002637.3	756	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS14421.1	2266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTCTAG	NONE	.	.	hmmpanther:PTHR10749:SF4,hmmpanther:PTHR10749,Pfam_domain:PF00723	.	.	ENSP00000362643	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000373542	Transcript	.	.	ENSG00000067177	8925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	tolerated(0.06)	.	KPB1_HUMAN	PHKA1	HGNC	.	.	UPI000013D340	SNV	PHKA1,missense_variant,p.Asp697His,ENST00000373545,;PHKA1,missense_variant,p.Asp756His,ENST00000339490,;PHKA1,missense_variant,p.Asp756His,ENST00000373542,;PHKA1,missense_variant,p.Asp697His,ENST00000541944,;PHKA1,missense_variant,p.Asp756His,ENST00000373539,;	2426	116	99	SUCCESS
NHLRC2	374354	.	GRCh37	10	115662337	115662337	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	16	235	0	ENST00000369301.3:c.1479C>G	p.Asp493Glu	p.D493E	ENST00000369301	NM_198514.3	493	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS7585.1	1479	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACTCCTA	NONE	.	.	PROSITE_profiles:PS51125,hmmpanther:PTHR13833:SF13,hmmpanther:PTHR13833,Gene3D:2.120.10.30,Pfam_domain:PF01436,Superfamily_domains:SSF101898	.	.	ENSP00000358307	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000369301	Transcript	.	.	ENSG00000196865	24731	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NHLC2_HUMAN	NHLRC2	HGNC	.	.	UPI0000071EAF	SNV	NHLRC2,missense_variant,p.Asp493Glu,ENST00000369301,;	1691	235	115	SUCCESS
C10orf71	118461	.	GRCh37	10	50532289	50532289	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148337814	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	95	0	ENST00000374144.3:c.1699G>A	p.Ala567Thr	p.A567T	ENST00000374144		567	Gca/Aca	0	A:0.006	A:0.0121	.	A:0	.	A	A/T	protein_coding	YES	CCDS44387.1	1699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGCATCA	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000363259	A:0	3/3	.	.	.	.	.	.	.	.	rs148337814	3/3	common_in_exac	ENST00000374144	Transcript	.	A:0.0032	ENSG00000177354	26973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	A:0	tolerated(0.38)	.	CJ071_HUMAN	C10orf71	HGNC	.	.	UPI0000161572	SNV	C10orf71,missense_variant,p.Ala567Thr,ENST00000374144,;C10orf71,missense_variant,p.Ala567Thr,ENST00000323868,;	1987	95	63	SUCCESS
HELLS	3070	.	GRCh37	10	96350289	96350289	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	34	317	0	ENST00000348459.5:c.1608G>A	p.Gln536=	p.Q536=	ENST00000348459	NM_018063.3	536	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS7434.1	1608	RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGCCAGA	NONE	.	.	Pfam_domain:PF00176,hmmpanther:PTHR10799:SF547,hmmpanther:PTHR10799	.	.	ENSP00000239027	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000348459	Transcript	.	.	ENSG00000119969	4861	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HELLS_HUMAN	HELLS	HGNC	B1ALG6_HUMAN	.	UPI000006F63A	SNV	HELLS,synonymous_variant,p.%3D,ENST00000348459,;HELLS,synonymous_variant,p.%3D,ENST00000371332,;HELLS,synonymous_variant,p.%3D,ENST00000394045,;HELLS,3_prime_UTR_variant,,ENST00000394036,;HELLS,3_prime_UTR_variant,,ENST00000239026,;HELLS,upstream_gene_variant,,ENST00000371327,;RP11-119K6.6,intron_variant,,ENST00000432120,;HELLS,upstream_gene_variant,,ENST00000464030,;	1713	317	172	SUCCESS
PGR	5241	.	GRCh37	11	100996767	100996767	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764040334	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	95	0	ENST00000325455.5:c.1760G>C	p.Cys587Ser	p.C587S	ENST00000325455	NM_001202474.3	587	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS8310.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTACAGCTC	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000325120	.	2/8	.	.	.	.	.	.	.	.	rs764040334	2/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,missense_variant,p.Cys587Ser,ENST00000263463,;PGR,missense_variant,p.Cys587Ser,ENST00000325455,;PGR,5_prime_UTR_variant,,ENST00000534013,;PGR,missense_variant,p.Cys587Ser,ENST00000534780,;PGR,missense_variant,p.Cys587Ser,ENST00000528960,;PGR,missense_variant,p.Cys587Ser,ENST00000526300,;	3214	95	63	SUCCESS
EXPH5	23086	.	GRCh37	11	108389093	108389093	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	88	0	ENST00000265843.4:c.500A>C	p.Lys167Thr	p.K167T	ENST00000265843	NM_015065.2	167	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS8341.1	500	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATATTTTTGCC	NONE	.	.	hmmpanther:PTHR21469	.	.	ENSP00000265843	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000265843	Transcript	.	.	ENSG00000110723	30578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.837)	.	deleterious(0.04)	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,missense_variant,p.Lys91Thr,ENST00000428840,;EXPH5,missense_variant,p.Lys160Thr,ENST00000525344,;EXPH5,missense_variant,p.Lys91Thr,ENST00000526312,;EXPH5,missense_variant,p.Lys167Thr,ENST00000265843,;EXPH5,5_prime_UTR_variant,,ENST00000443411,;EXPH5,5_prime_UTR_variant,,ENST00000533052,;EXPH5,non_coding_transcript_exon_variant,,ENST00000524840,;	611	88	55	SUCCESS
SIK2	23235	.	GRCh37	11	111591262	111591262	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1046963022	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	137	0	ENST00000304987.3:c.1556T>C	p.Met519Thr	p.M519T	ENST00000304987	NM_015191.1	519	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS8347.1	1556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATATGGGGT	NONE	.	.	hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	tolerated(0.07)	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	SNV	SIK2,missense_variant,p.Met519Thr,ENST00000304987,;SIK2,non_coding_transcript_exon_variant,,ENST00000533868,;	1729	137	78	SUCCESS
SIK2	23235	.	GRCh37	11	111591283	111591283	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	127	0	ENST00000304987.3:c.1577T>G	p.Leu526Arg	p.L526R	ENST00000304987	NM_015191.1	526	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8347.1	1577	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCTGAACT	NONE	.	.	hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.736)	.	deleterious(0.01)	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	SNV	SIK2,missense_variant,p.Leu526Arg,ENST00000304987,;SIK2,non_coding_transcript_exon_variant,,ENST00000533868,;	1750	127	72	SUCCESS
TRAF6	7189	.	GRCh37	11	36520132	36520132	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	97	0	ENST00000348124.5:c.355C>A	p.Pro119Thr	p.P119T	ENST00000348124	NM_145803.2	119	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS7901.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGAAATA	NONE	.	.	hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF52,Gene3D:3.30.40.10,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF57850	.	.	ENSP00000433623	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000526995	Transcript	.	.	ENSG00000175104	12036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	deleterious(0)	.	TRAF6_HUMAN	TRAF6	HGNC	.	.	UPI000000D924	SNV	TRAF6,missense_variant,p.Pro119Thr,ENST00000348124,;TRAF6,missense_variant,p.Pro119Thr,ENST00000526995,;TRAF6,upstream_gene_variant,,ENST00000529150,;	602	97	52	SUCCESS
KBTBD4	55709	.	GRCh37	11	47599068	47599068	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	89	0	ENST00000395288.2:c.484C>T	p.Leu162Phe	p.L162F	ENST00000395288	NM_016506.5	162	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS44594.1	532	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGAGCTCAG	NONE	.	.	hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF24,Pfam_domain:PF07707,SMART_domains:SM00875	.	.	ENSP00000415106	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000430070	Transcript	.	.	ENSG00000123444	23761	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	KBTB4_HUMAN	KBTBD4	HGNC	E9PJY1_HUMAN,E9PJ66_HUMAN	.	UPI0000D4DDB6	SNV	KBTBD4,missense_variant,p.Leu162Phe,ENST00000395288,;KBTBD4,missense_variant,p.Leu162Phe,ENST00000529499,;KBTBD4,missense_variant,p.Leu187Phe,ENST00000533290,;KBTBD4,missense_variant,p.Leu178Phe,ENST00000430070,;KBTBD4,missense_variant,p.Leu162Phe,ENST00000526005,;KBTBD4,missense_variant,p.Leu211Phe,ENST00000525720,;NDUFS3,upstream_gene_variant,,ENST00000530295,;NDUFS3,upstream_gene_variant,,ENST00000529276,;NDUFS3,upstream_gene_variant,,ENST00000528192,;NDUFS3,upstream_gene_variant,,ENST00000534208,;KBTBD4,downstream_gene_variant,,ENST00000534239,;KBTBD4,downstream_gene_variant,,ENST00000529946,;KBTBD4,downstream_gene_variant,,ENST00000531067,;NDUFS3,upstream_gene_variant,,ENST00000534716,;KBTBD4,upstream_gene_variant,,ENST00000450908,;NDUFS3,upstream_gene_variant,,ENST00000263774,;RNU5E-10P,upstream_gene_variant,,ENST00000363506,;NDUFS3,intron_variant,,ENST00000533507,;PTPMT1,downstream_gene_variant,,ENST00000527079,;NDUFS3,upstream_gene_variant,,ENST00000527178,;NDUFS3,upstream_gene_variant,,ENST00000531351,;NDUFS3,upstream_gene_variant,,ENST00000525212,;KBTBD4,3_prime_UTR_variant,,ENST00000530668,;NDUFS3,upstream_gene_variant,,ENST00000524568,;NDUFS3,upstream_gene_variant,,ENST00000525378,;NDUFS3,upstream_gene_variant,,ENST00000533105,;	596	89	60	SUCCESS
TMEM223	79064	.	GRCh37	11	62558364	62558364	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	119	0	ENST00000307366.7:c.340C>G	p.Leu114Val	p.L114V	ENST00000307366	NM_001080501.2	114	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS44628.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGACCAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF14640,hmmpanther:PTHR14549:SF3,hmmpanther:PTHR14549	.	.	ENSP00000303987	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307366	Transcript	.	.	ENSG00000168569	28464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.14)	.	TM223_HUMAN	TMEM223	HGNC	.	.	UPI00003D0905	SNV	TMEM223,missense_variant,p.Leu114Val,ENST00000307366,;TMEM223,intron_variant,,ENST00000525631,;TMEM223,intron_variant,,ENST00000528367,;NXF1,downstream_gene_variant,,ENST00000532297,;TMEM179B,downstream_gene_variant,,ENST00000526546,;NXF1,downstream_gene_variant,,ENST00000530875,;TMEM179B,downstream_gene_variant,,ENST00000533861,;TAF6L,downstream_gene_variant,,ENST00000294168,;NXF1,downstream_gene_variant,,ENST00000294172,;NXF1,downstream_gene_variant,,ENST00000527902,;TMEM179B,downstream_gene_variant,,ENST00000333449,;NXF1,downstream_gene_variant,,ENST00000531709,;RP11-727F15.12,upstream_gene_variant,,ENST00000601484,;TMEM223,intron_variant,,ENST00000527073,;NXF1,downstream_gene_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000533440,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533499,;NXF1,downstream_gene_variant,,ENST00000527497,;	367	119	58	SUCCESS
BATF2	116071	.	GRCh37	11	64756823	64756823	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	97	0	ENST00000301887.4:c.603C>T	p.Ala201=	p.A201=	ENST00000301887	NM_138456.3	201	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8087.1	603	MUTECT|MUSE|VARSCANS	.	GTTTGGGCCGT	NONE	.	.	hmmpanther:PTHR23351:SF11,hmmpanther:PTHR23351	.	.	ENSP00000301887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301887	Transcript	.	.	ENSG00000168062	25163	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BATF2_HUMAN	BATF2	HGNC	.	.	UPI000006E749	SNV	BATF2,synonymous_variant,p.%3D,ENST00000301887,;BATF2,synonymous_variant,p.%3D,ENST00000435842,;BATF2,synonymous_variant,p.%3D,ENST00000527716,;BATF2,downstream_gene_variant,,ENST00000534177,;BATF2,non_coding_transcript_exon_variant,,ENST00000527454,;	734	97	63	SUCCESS
DCHS1	8642	.	GRCh37	11	6643621	6643621	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	80	0	ENST00000299441.3:c.9286G>A	p.Gly3096Arg	p.G3096R	ENST00000299441	NM_003737.2	3096	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS7771.1	9286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCTGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Gly3096Arg,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	9698	80	58	SUCCESS
KLHL35	283212	.	GRCh37	11	75136531	75136531	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	30	71	0	ENST00000539798.1:c.1281C>A	p.Leu427=	p.L427=	ENST00000539798	NM_001039548.2	427	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44685.2	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGGAGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000438526	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000539798	Transcript	.	.	ENSG00000149243	26597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KLHL35	HGNC	F5H412_HUMAN	.	UPI0001B723C7	SNV	KLHL35,synonymous_variant,p.%3D,ENST00000376292,;KLHL35,synonymous_variant,p.%3D,ENST00000539798,;RPS3,downstream_gene_variant,,ENST00000527446,;KLHL35,non_coding_transcript_exon_variant,,ENST00000460787,;KLHL35,downstream_gene_variant,,ENST00000527491,;	1281	71	60	SUCCESS
ANO4	121601	.	GRCh37	12	101295436	101295436	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	12	154	0	ENST00000392977.3:c.-128C>G		p.*43*	ENST00000392977	NM_001286615.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31884.1	.	MUTECT|MUSE	.	TTTATCTATTC	NONE	.	.	.	.	.	ENSP00000376705	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Ser124Cys,ENST00000538618,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,5_prime_UTR_variant,,ENST00000546991,;ANO4,5_prime_UTR_variant,,ENST00000392977,;ANO4,5_prime_UTR_variant,,ENST00000392979,;ANO4,non_coding_transcript_exon_variant,,ENST00000551148,;ANO4,5_prime_UTR_variant,,ENST00000549155,;	234	154	78	SUCCESS
KMT2D	8085	.	GRCh37	12	49439845	49439845	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	79	0	ENST00000301067.7:c.4693+3G>C		p.X1565_splice	ENST00000301067	NM_003482.3	1565		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44873.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTCACCCA	NONE	.	.	.	.	.	ENSP00000301067	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	17/53	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,splice_region_variant,,ENST00000301067,;KMT2D,upstream_gene_variant,,ENST00000550356,;	.	79	48	SUCCESS
KCNA1	3736	.	GRCh37	12	5021214	5021214	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	114	0	ENST00000382545.3:c.670G>A	p.Val224Met	p.V224M	ENST00000382545	NM_000217.2	224	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS8535.1	670	MUSE|VARSCANS	.	TCATCGTGGAA	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537,Transmembrane_helices:TMhelix	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	COSM1676651	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.501)	.	deleterious(0.03)	1	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,missense_variant,p.Val224Met,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	1777	114	59	SUCCESS
PTPRR	5801	.	GRCh37	12	71155351	71155351	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	168	0	ENST00000283228.2:c.527T>C	p.Ile176Thr	p.I176T	ENST00000283228	NM_002849.3	176	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS8998.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAATTCCT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,PIRSF_domain:PIRSF001997	.	.	ENSP00000283228	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000283228	Transcript	.	.	ENSG00000153233	9680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.39)	.	PTPRR_HUMAN	PTPRR	HGNC	Q68CP6_HUMAN,F8VVE9_HUMAN	.	UPI000013DD2F	SNV	PTPRR,missense_variant,p.Ile64Thr,ENST00000342084,;PTPRR,missense_variant,p.Ile176Thr,ENST00000283228,;	980	168	97	SUCCESS
USP44	84101	.	GRCh37	12	95927545	95927545	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371620070	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	46	115	0	ENST00000258499.3:c.488G>T	p.Arg163Leu	p.R163L	ENST00000258499	NM_032147.3	163	cGa/cTa	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS9053.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCGAAAG	NONE	byCluster	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF401	.	T:0.0001	ENSP00000258499	.	2/6	.	.	.	.	.	.	.	.	rs371620070,COSM278047	2/6	PASS	ENST00000258499	Transcript	.	.	ENSG00000136014	20064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.017)	.	tolerated(0.08)	0,1	UBP44_HUMAN	USP44	HGNC	F8VVD6_HUMAN,F8VRW0_HUMAN	.	UPI000013CFDB	SNV	USP44,missense_variant,p.Arg163Leu,ENST00000537435,;USP44,missense_variant,p.Arg163Leu,ENST00000551837,;USP44,missense_variant,p.Arg163Leu,ENST00000393091,;USP44,missense_variant,p.Arg163Leu,ENST00000258499,;USP44,missense_variant,p.Arg163Leu,ENST00000552440,;USP44,downstream_gene_variant,,ENST00000549639,;USP44,upstream_gene_variant,,ENST00000552237,;	777	115	120	SUCCESS
MYO16	23026	.	GRCh37	13	109777634	109777634	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375704783	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	27	474	0	ENST00000356711.2:c.3644G>A	p.Arg1215His	p.R1215H	ENST00000356711	NM_015011.1	1215	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS32008.1	3644	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTAGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,Pfam_domain:PF15439	.	A:0	ENSP00000349145	.	30/35	.	.	.	.	.	.	.	.	rs375704783	30/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.117)	.	deleterious(0.02)	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,missense_variant,p.Arg727His,ENST00000457511,;MYO16,missense_variant,p.Arg1215His,ENST00000356711,;MYO16,missense_variant,p.Arg1215His,ENST00000357550,;	3770	474	270	SUCCESS
PSMB5	5693	.	GRCh37	14	23503937	23503937	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1339660379	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	61	0	ENST00000361611.6:c.154C>T	p.Pro52Ser	p.P52S	ENST00000361611	NM_002797.3	52	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9584.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGCTCTT	NONE	.	.	hmmpanther:PTHR11599:SF51,hmmpanther:PTHR11599	.	.	ENSP00000355325	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000361611	Transcript	.	.	ENSG00000100804	9542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.26)	.	PSB5_HUMAN	PSMB5	HGNC	.	.	UPI000013C701	SNV	PSMB5,missense_variant,p.Pro52Ser,ENST00000361611,;PSMB5,missense_variant,p.Pro52Ser,ENST00000460922,;PSMB5,missense_variant,p.Pro52Ser,ENST00000493471,;PSMB5,intron_variant,,ENST00000425762,;PSMB5,upstream_gene_variant,,ENST00000555895,;AL132780.1,upstream_gene_variant,,ENST00000385031,;PSMB5,missense_variant,p.Pro52Ser,ENST00000334454,;	418	61	56	SUCCESS
AKAP6	9472	.	GRCh37	14	33014464	33014464	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	154	0	ENST00000280979.4:c.605A>T	p.Asp202Val	p.D202V	ENST00000280979	NM_004274.4	202	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS9644.1	605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGATGACT	NONE	.	.	hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	.	.	ENSP00000280979	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,missense_variant,p.Asp202Val,ENST00000280979,;AKAP6,missense_variant,p.Asp202Val,ENST00000557272,;AKAP6,missense_variant,p.Asp202Val,ENST00000557354,;AKAP6,5_prime_UTR_variant,,ENST00000553547,;AKAP6,5_prime_UTR_variant,,ENST00000556638,;AKAP6,5_prime_UTR_variant,,ENST00000554410,;	775	154	62	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36211696	36211696	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763718558	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	29	320	0	ENST00000389698.3:c.1327G>A	p.Glu443Lys	p.E443K	ENST00000389698	NM_014990.1	443	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS32064.1	1327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCTTGTT	NONE	byFrequency	.	hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063	.	.	ENSP00000302647	.	11/40	.	.	.	.	.	.	.	.	rs763718558	11/40	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.1)	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,missense_variant,p.Glu443Lys,ENST00000389698,;RALGAPA1,missense_variant,p.Glu443Lys,ENST00000553892,;RALGAPA1,missense_variant,p.Glu443Lys,ENST00000258840,;RALGAPA1,missense_variant,p.Glu443Lys,ENST00000382366,;RALGAPA1,missense_variant,p.Glu443Lys,ENST00000307138,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554704,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000557069,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;	1796	320	160	SUCCESS
CATSPERB	79820	.	GRCh37	14	92076871	92076871	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1044887063	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	69	0	ENST00000256343.3:c.2551G>A	p.Gly851Arg	p.G851R	ENST00000256343	NM_024764.2	851	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS32142.1	2551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCCACTAA	NONE	.	.	hmmpanther:PTHR14705,Pfam_domain:PF15149	.	.	ENSP00000256343	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000256343	Transcript	.	.	ENSG00000133962	20500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	CTSRB_HUMAN	CATSPERB	HGNC	G3V584_HUMAN,G3V352_HUMAN	.	UPI0000418DA1	SNV	CATSPERB,missense_variant,p.Gly851Arg,ENST00000256343,;CATSPERB,3_prime_UTR_variant,,ENST00000557036,;	2708	69	39	SUCCESS
RASGRP1	10125	.	GRCh37	15	38798090	38798090	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	95	0	ENST00000310803.5:c.1274A>G	p.Glu425Gly	p.E425G	ENST00000310803	NM_005739.3	425	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS45222.1	1274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTTCATCC	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF174,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000310244	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000310803	Transcript	1	.	ENSG00000172575	9878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GRP1_HUMAN	RASGRP1	HGNC	H0YNG8_HUMAN,H0YN83_HUMAN,H0YKP8_HUMAN,F5H514_HUMAN	.	UPI000006FE1C	SNV	RASGRP1,missense_variant,p.Glu425Gly,ENST00000450598,;RASGRP1,missense_variant,p.Glu439Gly,ENST00000558432,;RASGRP1,missense_variant,p.Glu425Gly,ENST00000310803,;RASGRP1,missense_variant,p.Glu476Gly,ENST00000561180,;RASGRP1,missense_variant,p.Glu425Gly,ENST00000558164,;RASGRP1,missense_variant,p.Glu377Gly,ENST00000539159,;RASGRP1,missense_variant,p.Glu425Gly,ENST00000559830,;RP11-102L12.2,downstream_gene_variant,,ENST00000560231,;RASGRP1,missense_variant,p.Glu137Gly,ENST00000560425,;RASGRP1,missense_variant,p.Glu425Gly,ENST00000414708,;RASGRP1,upstream_gene_variant,,ENST00000557875,;	1452	95	67	SUCCESS
RHOV	171177	.	GRCh37	15	41165411	41165411	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	83	0	ENST00000220507.4:c.556T>C	p.Cys186Arg	p.C186R	ENST00000220507	NM_133639.3	186	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS10068.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCACTCAA	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,hmmpanther:PTHR24072:SF144,hmmpanther:PTHR24072,PROSITE_profiles:PS51420	.	.	ENSP00000220507	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000220507	Transcript	.	.	ENSG00000104140	18313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	RHOV_HUMAN	RHOV	HGNC	.	.	UPI00000412A5	SNV	RHOV,missense_variant,p.Cys186Arg,ENST00000220507,;AC025166.1,upstream_gene_variant,,ENST00000582049,;	706	83	68	SUCCESS
VPS18	57617	.	GRCh37	15	41191757	41191757	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	24	0	ENST00000220509.5:c.741C>T	p.Leu247=	p.L247=	ENST00000220509	NM_020857.2	247	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10069.1	741	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCTTTGC	NONE	.	.	hmmpanther:PTHR23323:SF26,hmmpanther:PTHR23323	.	.	ENSP00000220509	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000220509	Transcript	.	.	ENSG00000104142	15972	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VPS18_HUMAN	VPS18	HGNC	.	.	UPI0000049FBC	SNV	VPS18,synonymous_variant,p.%3D,ENST00000220509,;VPS18,intron_variant,,ENST00000558474,;VPS18,downstream_gene_variant,,ENST00000558855,;	1080	24	23	SUCCESS
LARP6	55323	.	GRCh37	15	71124842	71124842	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	68	0	ENST00000299213.8:c.1025C>T	p.Pro342Leu	p.P342L	ENST00000299213	NM_018357.2	342	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32281.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGGGGTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22792:SF44,hmmpanther:PTHR22792	.	.	ENSP00000299213	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000299213	Transcript	.	.	ENSG00000166173	24012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.579)	.	deleterious(0.01)	.	LARP6_HUMAN	LARP6	HGNC	K7EPD2_HUMAN	.	UPI0000073C63	SNV	LARP6,missense_variant,p.Pro342Leu,ENST00000299213,;LARP6,downstream_gene_variant,,ENST00000559316,;RP11-138H8.7,upstream_gene_variant,,ENST00000592096,;	1096	68	40	SUCCESS
MORF4L1	10933	.	GRCh37	15	79178486	79178486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	49	383	1	ENST00000331268.5:c.276G>T	p.Trp92Cys	p.W92C	ENST00000331268	NM_206839.2	92	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS10307.1	276	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGGATGA	NONE	.	.	hmmpanther:PTHR10880,hmmpanther:PTHR10880:SF29,Gene3D:1wgsA00,PIRSF_domain:PIRSF038133,Superfamily_domains:SSF54160	.	.	ENSP00000331310	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000331268	Transcript	.	.	ENSG00000185787	16989	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	MO4L1_HUMAN	MORF4L1	HGNC	H0YNX3_HUMAN,H0YNI8_HUMAN,H0YMT8_HUMAN,H0YM21_HUMAN,H0YLV1_HUMAN	.	UPI000000D82F	SNV	MORF4L1,missense_variant,p.Trp63Cys,ENST00000560422,;MORF4L1,missense_variant,p.Trp53Cys,ENST00000558746,;MORF4L1,missense_variant,p.Trp69Cys,ENST00000559751,;MORF4L1,missense_variant,p.Trp53Cys,ENST00000426013,;MORF4L1,missense_variant,p.Trp78Cys,ENST00000379535,;MORF4L1,missense_variant,p.Trp92Cys,ENST00000331268,;MORF4L1,5_prime_UTR_variant,,ENST00000559158,;MORF4L1,5_prime_UTR_variant,,ENST00000559345,;MORF4L1,5_prime_UTR_variant,,ENST00000558830,;MORF4L1,5_prime_UTR_variant,,ENST00000559244,;MORF4L1,5_prime_UTR_variant,,ENST00000559930,;MORF4L1,5_prime_UTR_variant,,ENST00000558502,;MORF4L1,5_prime_UTR_variant,,ENST00000559690,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000561171,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000559697,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000558539,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000557961,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000558522,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000559258,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000559619,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000558893,;MORF4L1,upstream_gene_variant,,ENST00000558923,;	480	384	240	SUCCESS
TSR3	115939	.	GRCh37	16	1401581	1401581	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	14	0	ENST00000007390.2:c.131C>A	p.Ala44Glu	p.A44E	ENST00000007390	NM_001001410.2	44	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS10435.1	131	MUTECT|MUSE	.	CAGCCGCCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20426,hmmpanther:PTHR20426:SF0	.	.	ENSP00000007390	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000007390	Transcript	.	.	ENSG00000007520	14175	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.64)	.	TSR3_HUMAN	TSR3	HGNC	.	.	UPI000007142F	SNV	TSR3,missense_variant,p.Ala44Glu,ENST00000007390,;BAIAP3,downstream_gene_variant,,ENST00000421665,;GNPTG,upstream_gene_variant,,ENST00000529110,;BAIAP3,downstream_gene_variant,,ENST00000568887,;BAIAP3,downstream_gene_variant,,ENST00000397488,;GNPTG,upstream_gene_variant,,ENST00000204679,;BAIAP3,downstream_gene_variant,,ENST00000561793,;BAIAP3,downstream_gene_variant,,ENST00000426824,;BAIAP3,downstream_gene_variant,,ENST00000562208,;BAIAP3,downstream_gene_variant,,ENST00000566162,;BAIAP3,downstream_gene_variant,,ENST00000324385,;BAIAP3,downstream_gene_variant,,ENST00000397489,;BAIAP3,downstream_gene_variant,,ENST00000564213,;BAIAP3,downstream_gene_variant,,ENST00000566389,;GNPTG,upstream_gene_variant,,ENST00000527168,;GNPTG,upstream_gene_variant,,ENST00000529957,;GNPTG,upstream_gene_variant,,ENST00000527137,;BAIAP3,downstream_gene_variant,,ENST00000567203,;GNPTG,upstream_gene_variant,,ENST00000526820,;GNPTG,upstream_gene_variant,,ENST00000527876,;GNPTG,upstream_gene_variant,,ENST00000534197,;TSR3,upstream_gene_variant,,ENST00000566296,;	238	14	12	SUCCESS
KAT8	84148	.	GRCh37	16	31142161	31142161	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	47	0	ENST00000219797.4:c.1252A>T	p.Thr418Ser	p.T418S	ENST00000219797	NM_032188.2	418	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS45468.1	1252	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCACACCC	NONE	.	.	Superfamily_domains:SSF55729,hmmpanther:PTHR10615	.	.	ENSP00000406037	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000448516	Transcript	.	.	ENSG00000103510	17933	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.19)	.	KAT8_HUMAN	KAT8	HGNC	.	.	UPI00001B02B6	SNV	KAT8,missense_variant,p.Thr418Ser,ENST00000543774,;KAT8,missense_variant,p.Thr418Ser,ENST00000448516,;KAT8,missense_variant,p.Thr418Ser,ENST00000219797,;KAT8,3_prime_UTR_variant,,ENST00000537402,;PRSS8,downstream_gene_variant,,ENST00000568261,;PRSS8,downstream_gene_variant,,ENST00000567797,;PRSS8,downstream_gene_variant,,ENST00000317508,;PRSS8,downstream_gene_variant,,ENST00000567531,;RP11-388M20.2,upstream_gene_variant,,ENST00000563605,;KAT8,non_coding_transcript_exon_variant,,ENST00000538768,;KAT8,non_coding_transcript_exon_variant,,ENST00000573144,;PRSS8,downstream_gene_variant,,ENST00000567833,;PRSS8,downstream_gene_variant,,ENST00000564025,;	1270	47	39	SUCCESS
NKD1	85407	.	GRCh37	16	50667280	50667280	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777863285	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	61	292	0	ENST00000268459.3:c.1001G>T	p.Arg334Leu	p.R334L	ENST00000268459	NM_033119.4	334	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS10743.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGGCTCC	NONE	.	.	hmmpanther:PTHR22611,hmmpanther:PTHR22611:SF2	.	.	ENSP00000268459	.	10/10	.	.	.	.	.	.	.	.	rs777863285	10/10	PASS	ENST00000268459	Transcript	.	.	ENSG00000140807	17045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	NKD1_HUMAN	NKD1	HGNC	.	.	UPI0000073F02	SNV	NKD1,missense_variant,p.Arg334Leu,ENST00000268459,;NKD1,downstream_gene_variant,,ENST00000566396,;	1225	292	213	SUCCESS
CX3CL1	6376	.	GRCh37	16	57416592	57416592	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	75	0	ENST00000006053.6:c.842G>A	p.Gly281Asp	p.G281D	ENST00000006053	NM_002996.3	281	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS10779.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGCAGCA	NONE	.	.	Prints_domain:PR01721	.	.	ENSP00000006053	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000006053	Transcript	.	.	ENSG00000006210	10647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.3)	.	X3CL1_HUMAN	CX3CL1	HGNC	J3QRA1_HUMAN,A0N0N7_HUMAN	.	UPI0000040685	SNV	CX3CL1,missense_variant,p.Gly281Asp,ENST00000006053,;CX3CL1,missense_variant,p.Gly243Asp,ENST00000565912,;CX3CL1,missense_variant,p.Gly287Asp,ENST00000563383,;CX3CL1,downstream_gene_variant,,ENST00000564948,;	953	75	62	SUCCESS
AGRP	181	.	GRCh37	16	67517252	67517252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	82	0	ENST00000290953.2:c.50C>T	p.Ala17Val	p.A17V	ENST00000290953	NM_001138.1	17	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10839.1	50	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGCAGGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16551:SF4,hmmpanther:PTHR16551,SMART_domains:SM00792	.	.	ENSP00000290953	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000290953	Transcript	.	.	ENSG00000159723	330	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.92)	.	AGRP_HUMAN	AGRP	HGNC	C6SUN5_HUMAN	.	UPI0000046BA7	SNV	AGRP,missense_variant,p.Ala17Val,ENST00000290953,;ATP6V0D1,upstream_gene_variant,,ENST00000540149,;ATP6V0D1,upstream_gene_variant,,ENST00000290949,;ATP6V0D1,upstream_gene_variant,,ENST00000565835,;RP11-297D21.4,intron_variant,,ENST00000602596,;RP11-297D21.4,upstream_gene_variant,,ENST00000602476,;ATP6V0D1,upstream_gene_variant,,ENST00000561658,;ATP6V0D1,upstream_gene_variant,,ENST00000564788,;ATP6V0D1,upstream_gene_variant,,ENST00000563064,;RP11-297D21.4,downstream_gene_variant,,ENST00000602592,;ATP6V0D1,upstream_gene_variant,,ENST00000561852,;ATP6V0D1,upstream_gene_variant,,ENST00000568298,;ATP6V0D1,upstream_gene_variant,,ENST00000564191,;	350	82	84	SUCCESS
ESRP2	80004	.	GRCh37	16	68265859	68265859	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	15	124	0	ENST00000565858.1:c.1175T>G	p.Leu392Arg	p.L392R	ENST00000565858	NM_024939.2	392	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS10863.1	1145	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGAGCAGC	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000418748	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000473183	Transcript	.	.	ENSG00000103067	26152	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ESRP2_HUMAN	ESRP2	HGNC	J3QQJ9_HUMAN,J3KRF2_HUMAN	.	UPI000006FB08	SNV	ESRP2,missense_variant,p.Leu382Arg,ENST00000473183,;ESRP2,missense_variant,p.Leu392Arg,ENST00000565858,;NFATC3,downstream_gene_variant,,ENST00000346183,;ESRP2,downstream_gene_variant,,ENST00000562724,;NFATC3,downstream_gene_variant,,ENST00000329524,;NFATC3,downstream_gene_variant,,ENST00000349223,;ESRP2,downstream_gene_variant,,ENST00000564382,;RP11-96D1.10,downstream_gene_variant,,ENST00000571975,;RP11-96D1.11,upstream_gene_variant,,ENST00000571197,;RP11-96D1.6,downstream_gene_variant,,ENST00000564147,;ESRP2,3_prime_UTR_variant,,ENST00000566774,;ESRP2,non_coding_transcript_exon_variant,,ENST00000251366,;ESRP2,downstream_gene_variant,,ENST00000562567,;ESRP2,downstream_gene_variant,,ENST00000564465,;ESRP2,downstream_gene_variant,,ENST00000563159,;ESRP2,downstream_gene_variant,,ENST00000569964,;ESRP2,downstream_gene_variant,,ENST00000565213,;ESRP2,downstream_gene_variant,,ENST00000562738,;	1684	124	104	SUCCESS
HYDIN	54768	.	GRCh37	16	71004531	71004531	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	30	0	ENST00000393567.2:c.5511A>G	p.Leu1837=	p.L1837=	ENST00000393567	NM_001270974.1	1837	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS59269.1	5511	RADIA|SOMATICSNIPER|VARSCANS	.	CAAAGTAGCAG	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	36/86	.	.	.	.	.	.	.	.	.	36/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;	5662	30	24	SUCCESS
DNAH9	1770	.	GRCh37	17	11660954	11660954	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	45	135	0	ENST00000262442.4:c.6940T>A	p.Leu2314Ile	p.L2314I	ENST00000262442	NM_001372.3	2314	Tta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS11160.1	6940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACTTAACC	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676	.	.	ENSP00000262442	.	35/69	.	.	.	.	.	.	.	.	.	35/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.573)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Leu2314Ile,ENST00000454412,;DNAH9,missense_variant,p.Leu2314Ile,ENST00000262442,;	7008	135	82	SUCCESS
MYOCD	93649	.	GRCh37	17	12656632	12656632	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749557798	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	69	0	ENST00000343344.4:c.2027C>T	p.Ser676Leu	p.S676L	ENST00000343344		676	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS54091.1	2027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGCCCA	NONE	byFrequency	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	10/14	.	.	.	.	.	.	.	.	rs749557798	10/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	tolerated(0.14)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Ser676Leu,ENST00000343344,;MYOCD,missense_variant,p.Ser381Leu,ENST00000443061,;MYOCD,missense_variant,p.Ser676Leu,ENST00000425538,;AC005358.1,missense_variant,p.Ser580Leu,ENST00000609971,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	2227	69	30	SUCCESS
KRTAP4-5	85289	.	GRCh37	17	39305699	39305699	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	78	0	ENST00000343246.4:c.321A>G	p.Arg107=	p.R107=	ENST00000343246	NM_033188.3	107	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS32650.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGTCTGCA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF13885,hmmpanther:PTHR23262:SF12,hmmpanther:PTHR23262	.	.	ENSP00000340546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343246	Transcript	.	.	ENSG00000198271	18899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA45_HUMAN	KRTAP4-5	HGNC	.	.	UPI0000456AA3	SNV	KRTAP4-5,synonymous_variant,p.%3D,ENST00000343246,;	356	78	48	SUCCESS
HLF	3131	.	GRCh37	17	53345280	53345280	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	149	0	ENST00000226067.5:c.284A>G	p.Asn95Ser	p.N95S	ENST00000226067	NM_002126.4	95	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11585.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAATGGCA	NONE	.	.	hmmpanther:PTHR11988,hmmpanther:PTHR11988:SF28	.	.	ENSP00000226067	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000226067	Transcript	.	.	ENSG00000108924	4977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	HLF_HUMAN	HLF	HGNC	Q6FHS9_HUMAN,A8K1X8_HUMAN	.	UPI0000001C51	SNV	HLF,missense_variant,p.Asn10Ser,ENST00000573945,;HLF,missense_variant,p.Asn35Ser,ENST00000572002,;HLF,missense_variant,p.Asn10Ser,ENST00000575345,;HLF,missense_variant,p.Asn95Ser,ENST00000226067,;HLF,missense_variant,p.Asn10Ser,ENST00000430986,;RP11-515O17.2,downstream_gene_variant,,ENST00000574716,;HLF,missense_variant,p.Asn10Ser,ENST00000570962,;	757	149	120	SUCCESS
JMJD6	23210	.	GRCh37	17	74722553	74722553	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	29	56	0	ENST00000397625.4:c.5A>C	p.Asn2Thr	p.N2T	ENST00000397625	NM_015167.2	2	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS42383.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTTCATT	NONE	.	.	hmmpanther:PTHR12480:SF5,hmmpanther:PTHR12480	.	.	ENSP00000394085	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000445478	Transcript	.	.	ENSG00000070495	19355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	deleterious(0.04)	.	JMJD6_HUMAN	JMJD6	HGNC	.	.	UPI00003DFD0B	SNV	JMJD6,missense_variant,p.Asn2Thr,ENST00000585429,;JMJD6,missense_variant,p.Asn2Thr,ENST00000397625,;JMJD6,missense_variant,p.Asn2Thr,ENST00000445478,;METTL23,upstream_gene_variant,,ENST00000591571,;METTL23,upstream_gene_variant,,ENST00000590964,;METTL23,upstream_gene_variant,,ENST00000588783,;METTL23,upstream_gene_variant,,ENST00000588302,;METTL23,upstream_gene_variant,,ENST00000586200,;METTL23,upstream_gene_variant,,ENST00000592849,;METTL23,upstream_gene_variant,,ENST00000586752,;METTL23,upstream_gene_variant,,ENST00000588563,;METTL23,upstream_gene_variant,,ENST00000589977,;METTL23,upstream_gene_variant,,ENST00000586738,;METTL23,upstream_gene_variant,,ENST00000341249,;METTL23,upstream_gene_variant,,ENST00000588822,;JMJD6,missense_variant,p.Asn2Thr,ENST00000542934,;JMJD6,missense_variant,p.Asn2Thr,ENST00000303996,;METTL23,upstream_gene_variant,,ENST00000589581,;	209	57	51	SUCCESS
TP53	7157	.	GRCh37	17	7578237	7578238	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	98	55	157	0	ENST00000269305.4:c.611_612del	p.Glu204ValfsTer4	p.E204Vfs*4	ENST00000269305	NM_001126112.2	204	gAG/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS11118.1	611-612	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAATACTCCACA	CODON|p.0?|c.1_1182del1182|6,CODON|p.Y205N|c.613T>A|5,CODON|p.Y205N|c.613T>A|3,CODON|p.Y112N|c.334T>A|3,CODON|p.Y205H|c.613T>C|6,CODON|p.Y205D|c.613T>G|14,CODON|p.Y73N|c.217T>A|3,BUFFER|p.D208E|c.624C>G|3,BUFFER|p.D208V|c.623A>T|14,BUFFER|p.D208G|c.623A>G|5,BUFFER|p.D207G|c.620A>G|4,BUFFER|p.L206fs*41|c.617delT|4,BUFFER|p.L206*|c.617T>A|9,BUFFER|p.Y73C|c.218A>G|19,BUFFER|p.Y112C|c.335A>G|18,BUFFER|p.Y112S|c.335A>C|3,BUFFER|p.Y205C|c.614A>G|17,BUFFER|p.Y205C|c.614A>G|5,BUFFER|p.Y205S|c.614A>C|3,BUFFER|p.Y205C|c.614A>G|72,BUFFER|p.Y205F|c.614A>T|7,BUFFER|p.Y205S|c.614A>C|14,BUFFER|p.Y205S|c.614A>C|3,BUFFER|p.Y205C|c.614A>G|18,BUFFER|p.Y205C|c.614A>G|8,BUFFER|p.Y73S|c.218A>C|3,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y112fs*4|c.334_335insC|4,BUFFER|p.Y73fs*4|c.217_218insC|4,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.E204fs*43|c.610delG|3,BUFFER|p.E204*|c.610G>T|3,BUFFER|p.E72*|c.214G>T|10,BUFFER|p.E204*|c.610G>T|32,BUFFER|p.E111*|c.331G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|4,BUFFER|p.V203V|c.609G>T|3,BUFFER|p.V203E|c.608T>A|6,BUFFER|p.V203L|c.607G>T|4,BUFFER|p.R202L|c.605G>T|3,BUFFER|p.R202H|c.605G>A|4,BUFFER|p.R202C|c.604C>T|4,BUFFER|p.R202S|c.604C>A|6,BUFFER|p.L201F|c.603G>T|3,BUFFER|p.L201F|c.603G>C|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Glu204ValfsTer4,ENST00000413465,;TP53,frameshift_variant,p.Glu204ValfsTer4,ENST00000420246,;TP53,frameshift_variant,p.Glu204ValfsTer4,ENST00000269305,;TP53,frameshift_variant,p.Glu72ValfsTer4,ENST00000509690,;TP53,frameshift_variant,p.Glu204ValfsTer4,ENST00000359597,;TP53,frameshift_variant,p.Glu111ValfsTer4,ENST00000514944,;TP53,frameshift_variant,p.Glu204ValfsTer4,ENST00000445888,;TP53,frameshift_variant,p.Glu204ValfsTer4,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	801-802	157	153	SUCCESS
KATNAL2	83473	.	GRCh37	18	44580795	44580795	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	38	319	0	ENST00000356157.7:c.318A>T	p.Arg106Ser	p.R106S	ENST00000356157		106	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS32828.1	102	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGAGGGAA	NONE	.	.	hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF78,HAMAP:MF_03025	.	.	ENSP00000245121	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000245121	Transcript	.	.	ENSG00000167216	25387	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.81)	.	KATL2_HUMAN	KATNAL2	HGNC	K7EM02_HUMAN	.	UPI0000456B8E	SNV	KATNAL2,missense_variant,p.Arg34Ser,ENST00000245121,;KATNAL2,missense_variant,p.Arg106Ser,ENST00000356157,;KATNAL2,missense_variant,p.Arg86Ser,ENST00000585469,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,upstream_gene_variant,,ENST00000588433,;KATNAL2,non_coding_transcript_exon_variant,,ENST00000585383,;	296	319	207	SUCCESS
MRO	83876	.	GRCh37	18	48345993	48345993	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	74	0	ENST00000256425.2:c.-47G>C		p.*16*	ENST00000256425		33		0	.	.	.	.	.	G	T	protein_coding	YES	CCDS45868.1	99	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCGTTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000397900	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000436348	Transcript	.	.	ENSG00000134042	24121	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MSTRO_HUMAN	MRO	HGNC	.	.	UPI000174C6BE	SNV	MRO,synonymous_variant,p.%3D,ENST00000431965,;MRO,synonymous_variant,p.%3D,ENST00000436348,;MRO,5_prime_UTR_variant,,ENST00000428869,;MRO,5_prime_UTR_variant,,ENST00000398439,;MRO,5_prime_UTR_variant,,ENST00000592966,;MRO,5_prime_UTR_variant,,ENST00000256425,;MRO,intron_variant,,ENST00000588444,;MRO,non_coding_transcript_exon_variant,,ENST00000587291,;MRO,synonymous_variant,p.%3D,ENST00000585524,;MRO,intron_variant,,ENST00000590988,;HNRNPA3P16,downstream_gene_variant,,ENST00000591842,;RPL17P46,upstream_gene_variant,,ENST00000496512,;	248	74	59	SUCCESS
SERPINB2	5055	.	GRCh37	18	61570480	61570480	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	6	117	0	ENST00000299502.4:c.1189C>T	p.Leu397Phe	p.L397F	ENST00000299502	NM_002575.2	397	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS11989.1	1189	MUTECT|MUSE	.	TTTTTCTTATT	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:2.30.39.10,Pfam_domain:PF00079,PROSITE_patterns:PS00284,hmmpanther:PTHR11461:SF61,hmmpanther:PTHR11461	.	.	ENSP00000401645	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000457692	Transcript	.	.	ENSG00000197632	8584	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(1)	.	PAI2_HUMAN	SERPINB2	HGNC	Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN	.	UPI000002BB06	SNV	SERPINB2,missense_variant,p.Leu397Phe,ENST00000457692,;SERPINB2,missense_variant,p.Leu397Phe,ENST00000299502,;SERPINB10,intron_variant,,ENST00000397996,;SERPINB10,intron_variant,,ENST00000418725,;SERPINB10,upstream_gene_variant,,ENST00000238508,;SERPINB2,downstream_gene_variant,,ENST00000482254,;	1522	117	80	SUCCESS
ATP9B	374868	.	GRCh37	18	77137276	77137276	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	68	0	ENST00000426216.2:c.3337C>A	p.Leu1113Met	p.L1113M	ENST00000426216	NM_198531.3	1113	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS12014.1	3337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCTGTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF50,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000398076	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000426216	Transcript	.	.	ENSG00000166377	13541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	deleterious(0.01)	.	ATP9B_HUMAN	ATP9B	HGNC	.	.	UPI00002371AF	SNV	ATP9B,missense_variant,p.Leu423Met,ENST00000543761,;ATP9B,missense_variant,p.Leu1102Met,ENST00000307671,;ATP9B,missense_variant,p.Leu1113Met,ENST00000426216,;ATP9B,3_prime_UTR_variant,,ENST00000590477,;ATP9B,3_prime_UTR_variant,,ENST00000588921,;ATP9B,downstream_gene_variant,,ENST00000589951,;ATP9B,downstream_gene_variant,,ENST00000587919,;ATP9B,downstream_gene_variant,,ENST00000587410,;	3354	68	36	SUCCESS
ANKRD12	23253	.	GRCh37	18	9208736	9208736	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	59	283	0	ENST00000262126.4:c.386A>G	p.Tyr129Cys	p.Y129C	ENST00000262126	NM_015208.4	129	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11843.1	386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTATCCAC	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Tyr106Cys,ENST00000546007,;ANKRD12,missense_variant,p.Tyr129Cys,ENST00000262126,;ANKRD12,missense_variant,p.Tyr106Cys,ENST00000383440,;ANKRD12,missense_variant,p.Tyr106Cys,ENST00000400020,;ANKRD12,non_coding_transcript_exon_variant,,ENST00000581758,;ANKRD12,non_coding_transcript_exon_variant,,ENST00000540578,;RP11-21J18.1,intron_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000581635,;	626	283	229	SUCCESS
SMARCA4	6597	.	GRCh37	19	11145796	11145796	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	156	0	ENST00000344626.4:c.4158G>T	p.Lys1386Asn	p.K1386N	ENST00000344626	NM_003072.3	1386	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS12253.1	4158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGCAGTG	NONE	.	.	Pfam_domain:PF14619,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799	.	.	ENSP00000395654	.	30/36	.	.	.	.	.	.	.	.	COSM990759,COSM1589624	30/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	.	1,1	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Lys1353Asn,ENST00000450717,;SMARCA4,missense_variant,p.Lys1386Asn,ENST00000358026,;SMARCA4,missense_variant,p.Lys1353Asn,ENST00000413806,;SMARCA4,missense_variant,p.Lys1353Asn,ENST00000444061,;SMARCA4,missense_variant,p.Lys1353Asn,ENST00000541122,;SMARCA4,missense_variant,p.Lys76Asn,ENST00000592158,;SMARCA4,missense_variant,p.Lys1353Asn,ENST00000590574,;SMARCA4,missense_variant,p.Lys1386Asn,ENST00000344626,;SMARCA4,missense_variant,p.Lys1353Asn,ENST00000589677,;SMARCA4,missense_variant,p.Lys1386Asn,ENST00000429416,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,downstream_gene_variant,,ENST00000591545,;SMARCA4,downstream_gene_variant,,ENST00000586892,;	4439	156	102	SUCCESS
OR10H2	26538	.	GRCh37	19	15839113	15839113	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	14	156	0	ENST00000305899.3:c.260C>T	p.Ser87Phe	p.S87F	ENST00000305899	NM_013939.2	87	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS12333.1	260	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCCACCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF10320,Superfamily_domains:SSF81321	.	.	ENSP00000306095	.	1/1	.	.	.	.	.	.	.	.	COSM3529840	1/1	PASS	ENST00000305899	Transcript	.	.	ENSG00000171942	8173	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.02)	.	tolerated(0.07)	1	O10H2_HUMAN	OR10H2	HGNC	.	.	UPI000004CA3E	SNV	OR10H2,missense_variant,p.Ser87Phe,ENST00000305899,;	280	156	106	SUCCESS
OR10H1	26539	.	GRCh37	19	15918588	15918588	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1388156724	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	75	0	ENST00000334920.2:c.260C>T	p.Ser87Phe	p.S87F	ENST00000334920	NM_013940.2	87	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS12335.1	260	RADIA|VARSCANS	.	GGGTGGACAGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335596	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334920	Transcript	.	.	ENSG00000186723	8172	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	tolerated(0.08)	.	O10H1_HUMAN	OR10H1	HGNC	.	.	UPI000004CA3D	SNV	OR10H1,missense_variant,p.Ser87Phe,ENST00000334920,;	349	75	42	SUCCESS
CRLF1	9244	.	GRCh37	19	18707565	18707565	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	43	184	1	ENST00000392386.3:c.891C>T	p.Arg297=	p.R297=	ENST00000392386	NM_004750.4	297	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32962.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCGGCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376188	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000392386	Transcript	1	.	ENSG00000006016	2364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRLF1_HUMAN	CRLF1	HGNC	.	.	UPI000000DA9E	SNV	CRLF1,synonymous_variant,p.%3D,ENST00000597131,;CRLF1,synonymous_variant,p.%3D,ENST00000392386,;C19orf60,downstream_gene_variant,,ENST00000358607,;C19orf60,downstream_gene_variant,,ENST00000450195,;C19orf60,downstream_gene_variant,,ENST00000595490,;CRLF1,upstream_gene_variant,,ENST00000594325,;CRLF1,downstream_gene_variant,,ENST00000593286,;C19orf60,downstream_gene_variant,,ENST00000601736,;C19orf60,downstream_gene_variant,,ENST00000598375,;CRLF1,upstream_gene_variant,,ENST00000596360,;C19orf60,downstream_gene_variant,,ENST00000595077,;C19orf60,downstream_gene_variant,,ENST00000597371,;C19orf60,downstream_gene_variant,,ENST00000600997,;	1085	185	133	SUCCESS
CERS1	10715	.	GRCh37	19	18991094	18991094	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs566462746	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	37	0	ENST00000427170.2:c.741C>A	p.Phe247Leu	p.F247L	ENST00000427170	NM_021267.3	247	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS46020.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGAAGCT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12560,hmmpanther:PTHR12560:SF2,Pfam_domain:PF03798,PIRSF_domain:PIRSF005225,SMART_domains:SM00724	.	.	ENSP00000402697	.	4/8	.	.	.	.	.	.	.	.	rs566462746	4/8	PASS	ENST00000427170	Transcript	1	.	ENSG00000223802	14253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.633)	.	deleterious(0.04)	.	CERS1_HUMAN	CERS1	HGNC	Q5XG75_HUMAN	.	UPI000012E98A	SNV	CERS1,missense_variant,p.Phe247Leu,ENST00000429504,;CERS1,missense_variant,p.Phe149Leu,ENST00000542296,;CERS1,missense_variant,p.Phe100Leu,ENST00000596048,;CERS1,missense_variant,p.Phe247Leu,ENST00000427170,;GDF1,5_prime_UTR_variant,,ENST00000247005,;AC005197.2,upstream_gene_variant,,ENST00000597769,;	813	37	28	SUCCESS
LTBP4	8425	.	GRCh37	19	41111717	41111717	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	60	0	ENST00000308370.7:c.974A>C	p.Gln325Pro	p.Q325P	ENST00000308370	NM_001042544.1	325	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	.	974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCAGCTGT	NONE	.	.	Superfamily_domains:SSF57581,Gene3D:3.90.290.10,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS51364	.	.	ENSP00000311905	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	tolerated(0.14)	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,missense_variant,p.Gln258Pro,ENST00000396819,;LTBP4,missense_variant,p.Gln288Pro,ENST00000204005,;LTBP4,missense_variant,p.Gln325Pro,ENST00000308370,;LTBP4,5_prime_UTR_variant,,ENST00000545697,;RN7SL758P,downstream_gene_variant,,ENST00000580450,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,upstream_gene_variant,,ENST00000598055,;LTBP4,downstream_gene_variant,,ENST00000599016,;LTBP4,downstream_gene_variant,,ENST00000594537,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000595529,;LTBP4,downstream_gene_variant,,ENST00000593738,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,upstream_gene_variant,,ENST00000546155,;	974	61	42	SUCCESS
NCR1	9437	.	GRCh37	19	55417692	55417692	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	33	0	ENST00000291890.4:c.70C>T	p.Gln24Ter	p.Q24*	ENST00000291890	NM_004829.6	24	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12911.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGTGAG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF14	.	.	ENSP00000291890	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000291890	Transcript	.	.	ENSG00000189430	6731	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCTR1_HUMAN	NCR1	HGNC	.	.	UPI00000726A9	SNV	NCR1,stop_gained,p.Gln24Ter,ENST00000594765,;NCR1,stop_gained,p.Gln24Ter,ENST00000338835,;NCR1,stop_gained,p.Gln24Ter,ENST00000291890,;NCR1,stop_gained,p.Gln24Ter,ENST00000447255,;NCR1,stop_gained,p.Gln24Ter,ENST00000350790,;NCR1,intron_variant,,ENST00000598576,;NCR1,intron_variant,,ENST00000357397,;NCR1,splice_region_variant,,ENST00000601137,;NCR1,non_coding_transcript_exon_variant,,ENST00000601903,;	108	33	28	SUCCESS
NLRP2	55655	.	GRCh37	19	55493985	55493985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	73	0	ENST00000448584.2:c.919G>T	p.Asp307Tyr	p.D307Y	ENST00000448584	NM_001174083.1	307	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS12913.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGACTGG	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Pfam_domain:PF05729,Gene3D:3.40.50.300	.	.	ENSP00000445135	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Asp285Tyr,ENST00000339757,;NLRP2,missense_variant,p.Asp307Tyr,ENST00000543010,;NLRP2,missense_variant,p.Asp307Tyr,ENST00000448584,;NLRP2,missense_variant,p.Asp284Tyr,ENST00000427260,;NLRP2,missense_variant,p.Asp285Tyr,ENST00000537859,;NLRP2,missense_variant,p.Asp304Tyr,ENST00000263437,;NLRP2,missense_variant,p.Asp283Tyr,ENST00000391721,;NLRP2,missense_variant,p.Asp283Tyr,ENST00000538819,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000381637,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;	1062	73	47	SUCCESS
ZNF560	147741	.	GRCh37	19	9577581	9577581	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1254998389	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	91	0	ENST00000301480.4:c.2042A>G	p.Glu681Gly	p.E681G	ENST00000301480	NM_152476.2	681	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS12214.1	2042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTCTGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000301480	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301480	Transcript	.	.	ENSG00000198028	26484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	deleterious(0)	.	ZN560_HUMAN	ZNF560	HGNC	.	.	UPI000013E720	SNV	ZNF560,missense_variant,p.Glu681Gly,ENST00000301480,;ZNF560,downstream_gene_variant,,ENST00000585974,;	2256	92	57	SUCCESS
STRIP1	85369	.	GRCh37	1	110596387	110596387	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	83	0	ENST00000369795.3:c.2369del	p.Pro790LeufsTer26	p.P790Lfs*26	ENST00000369795	NM_033088.3	789	aaC/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS30798.1	2367	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCAACCCTGA	NONE	.	.	hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF5,Pfam_domain:PF11882	.	.	ENSP00000358810	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000369795	Transcript	.	.	ENSG00000143093	25916	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STRP1_HUMAN	STRIP1	HGNC	.	.	UPI0000160E65	deletion	STRIP1,frameshift_variant,p.Pro790LeufsTer26,ENST00000369795,;STRIP1,frameshift_variant,p.Pro695LeufsTer26,ENST00000369796,;RP4-773N10.4,upstream_gene_variant,,ENST00000554749,;STRIP1,3_prime_UTR_variant,,ENST00000485775,;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,;	2389	83	77	SUCCESS
SLC16A1	6566	.	GRCh37	1	113464731	113464731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	74	0	ENST00000369626.3:c.242A>T	p.Asn81Ile	p.N81I	ENST00000369626	NM_003051.3	81	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS858.1	242	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATTCACC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF24,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00892,Superfamily_domains:SSF103473	.	.	ENSP00000441065	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000538576	Transcript	.	.	ENSG00000155380	10922	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	MOT1_HUMAN	SLC16A1	HGNC	Q5T8R5_HUMAN,Q5T8R4_HUMAN,Q5T8R3_HUMAN	.	UPI00000012F5	SNV	SLC16A1,missense_variant,p.Asn81Ile,ENST00000369626,;SLC16A1,missense_variant,p.Asn81Ile,ENST00000429288,;SLC16A1,missense_variant,p.Asn81Ile,ENST00000433570,;SLC16A1,missense_variant,p.Asn81Ile,ENST00000458229,;SLC16A1,missense_variant,p.Asn81Ile,ENST00000443580,;SLC16A1,missense_variant,p.Asn81Ile,ENST00000538576,;SLC16A1,non_coding_transcript_exon_variant,,ENST00000481750,;AKR7A2P1,upstream_gene_variant,,ENST00000460134,;	1074	74	41	SUCCESS
VPS13D	55187	.	GRCh37	1	12337226	12337226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	108	0	ENST00000358136.3:c.3581C>T	p.Ala1194Val	p.A1194V	ENST00000358136	NM_015378.2	1194	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS30588.1	3581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCAACTG	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	19/70	.	.	.	.	.	.	.	.	.	19/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,missense_variant,p.Ala1194Val,ENST00000358136,;VPS13D,missense_variant,p.Ala17Val,ENST00000011700,;VPS13D,missense_variant,p.Ala1194Val,ENST00000356315,;	3711	108	78	SUCCESS
FCRL5	83416	.	GRCh37	1	157494289	157494289	+	synonymous_variant	Silent	SNP	C	C	T	rs143158449	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	47	328	0	ENST00000361835.3:c.2019G>A	p.Gly673=	p.G673=	ENST00000361835	NM_001195388.1	673	ggG/ggA	0	A:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS1165.1	2019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCCCCAC	NONE	byCluster	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	A:0.0001	ENSP00000354691	.	10/17	.	.	.	.	.	.	.	.	rs143158449	10/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,synonymous_variant,p.%3D,ENST00000361835,;FCRL5,synonymous_variant,p.%3D,ENST00000368190,;FCRL5,synonymous_variant,p.%3D,ENST00000356953,;FCRL5,synonymous_variant,p.%3D,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	2177	328	190	SUCCESS
ATP1A4	480	.	GRCh37	1	160136391	160136391	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1188078056	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	110	0	ENST00000368081.4:c.1121C>T	p.Thr374Met	p.T374M	ENST00000368081	NM_144699.3	374	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS1197.1	1121	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACGCTGG	NONE	.	.	hmmpanther:PTHR24093:SF233,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,Gene3D:3.40.1110.10,Pfam_domain:PF00122,Superfamily_domains:0049473	.	.	ENSP00000357060	.	8/22	.	.	.	.	.	.	.	.	COSM676772	8/22	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,missense_variant,p.Thr374Met,ENST00000368081,;ATP1A4,upstream_gene_variant,,ENST00000418334,;ATP1A4,missense_variant,p.Thr374Met,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	1592	110	70	SUCCESS
CACNA1S	779	.	GRCh37	1	201023635	201023635	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs202240111	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	11	218	0	ENST00000362061.3:c.3664G>A	p.Val1222Ile	p.V1222I	ENST00000362061	NM_000069.2	1222	Gtt/Att	0	.	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS1407.1	3664	MUTECT|MUSE	.	TACAACGTTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Gene3D:1.20.120.350	T:0.002	.	ENSP00000355192	T:0	29/44	.	.	.	.	.	.	.	.	rs202240111,COSM369464	29/44	PASS	ENST00000362061	Transcript	.	T:0.0004	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.014)	T:0	tolerated_low_confidence(0.26)	0,1	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Val1222Ile,ENST00000362061,;CACNA1S,intron_variant,,ENST00000367338,;	3891	218	210	SUCCESS
USP48	84196	.	GRCh37	1	22048144	22048144	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs745419119	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	60	145	0	ENST00000308271.9:c.1762G>T	p.Gly588Cys	p.G588C	ENST00000308271	NM_032236.5	588	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS30623.1	1762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCCCTTTA	NONE	.	.	PROSITE_profiles:PS51283,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF100	.	.	ENSP00000309262	.	13/27	.	.	.	.	.	.	.	.	rs745419119	13/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.246)	.	deleterious(0.04)	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,missense_variant,p.Gly587Cys,ENST00000529637,;USP48,missense_variant,p.Gly127Cys,ENST00000374732,;USP48,missense_variant,p.Gly588Cys,ENST00000308271,;USP48,missense_variant,p.Gly588Cys,ENST00000400301,;USP48,downstream_gene_variant,,ENST00000534705,;USP48,downstream_gene_variant,,ENST00000526044,;USP48,splice_region_variant,,ENST00000487880,;USP48,upstream_gene_variant,,ENST00000471752,;	2411	145	125	SUCCESS
LEFTY2	7044	.	GRCh37	1	226127110	226127110	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	28	136	0	ENST00000366820.5:c.688C>A	p.Leu230Ile	p.L230I	ENST00000366820	NM_003240.3	230	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1549.1	688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGCCCGG	BUFFER|p.A226V|c.677C>T|3	.	.	hmmpanther:PTHR11848:SF7,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037402,Prints_domain:PR01427	.	.	ENSP00000355785	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000366820	Transcript	.	.	ENSG00000143768	3122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.38)	.	LFTY2_HUMAN	LEFTY2	HGNC	.	.	UPI0000136CBB	SNV	LEFTY2,missense_variant,p.Leu230Ile,ENST00000366820,;LEFTY2,missense_variant,p.Leu196Ile,ENST00000420304,;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,downstream_gene_variant,,ENST00000474493,;	1037	136	115	SUCCESS
LYST	1130	.	GRCh37	1	235897870	235897870	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	114	0	ENST00000389793.2:c.8448G>T	p.Leu2816=	p.L2816=	ENST00000389793	NM_000081.3	2816	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31062.1	8448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGCAGTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	32/53	.	.	.	.	.	.	.	.	COSM81403	32/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;LYST,downstream_gene_variant,,ENST00000461526,;LDHAP2,upstream_gene_variant,,ENST00000437325,;	8623	114	80	SUCCESS
RYR2	6262	.	GRCh37	1	237889575	237889575	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	29	331	0	ENST00000366574.2:c.10692G>A		p.X3564_splice	ENST00000366574	NM_001035.2	3564	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS55691.1	10692	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGTCTAA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	75/105	.	.	.	.	.	.	.	.	.	75/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;RYR2,splice_region_variant,,ENST00000609119,;RYR2,intron_variant,,ENST00000609253,;	11009	331	230	SUCCESS
TRIM58	25893	.	GRCh37	1	248039229	248039229	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780979068	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	79	0	ENST00000366481.3:c.899C>A	p.Ala300Glu	p.A300E	ENST00000366481	NM_015431.3	300	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS1636.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGCGCACC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000355437	.	6/6	.	.	.	.	.	.	.	.	rs780979068,COSM404315	6/6	PASS	ENST00000366481	Transcript	.	.	ENSG00000162722	24150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	TRI58_HUMAN	TRIM58	HGNC	.	.	UPI000020590E	SNV	TRIM58,missense_variant,p.Ala300Glu,ENST00000366481,;OR2W3,5_prime_UTR_variant,,ENST00000537741,;	947	79	48	SUCCESS
GPATCH3	63906	.	GRCh37	1	27220888	27220888	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774578347	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	80	0	ENST00000361720.5:c.890G>A	p.Gly297Asp	p.G297D	ENST00000361720	NM_022078.2	297	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS290.1	890	MUTECT|MUSE|VARSCANS	.	CCTCACCCCGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14390	.	.	ENSP00000354645	.	3/7	.	.	.	.	.	.	.	.	rs774578347	3/7	PASS	ENST00000361720	Transcript	.	.	ENSG00000198746	25720	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.67)	.	GPTC3_HUMAN	GPATCH3	HGNC	Q5JYG5_HUMAN,B4E015_HUMAN	.	UPI000003E830	SNV	GPATCH3,missense_variant,p.Gly297Asp,ENST00000361720,;GPN2,upstream_gene_variant,,ENST00000431781,;GPATCH3,upstream_gene_variant,,ENST00000450844,;GPATCH3,upstream_gene_variant,,ENST00000445019,;GPN2,upstream_gene_variant,,ENST00000374135,;	914	80	51	SUCCESS
TSSK3	81629	.	GRCh37	1	32828424	32828424	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746516280	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	33	198	0	ENST00000373534.3:c.122T>C	p.Ile41Thr	p.I41T	ENST00000373534	NM_052841.3	41	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS362.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATAGACA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF74,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362634	.	1/2	.	.	.	.	.	.	.	.	rs746516280	1/2	PASS	ENST00000373534	Transcript	.	.	ENSG00000162526	15473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	deleterious(0.03)	.	TSSK3_HUMAN	TSSK3	HGNC	I3L1X4_HUMAN	.	UPI000004466F	SNV	TSSK3,missense_variant,p.Ile41Thr,ENST00000373534,;TSSK3,intron_variant,,ENST00000574315,;BSDC1,downstream_gene_variant,,ENST00000341071,;BSDC1,downstream_gene_variant,,ENST00000413080,;BSDC1,downstream_gene_variant,,ENST00000446293,;BSDC1,downstream_gene_variant,,ENST00000455895,;FAM229A,upstream_gene_variant,,ENST00000428500,;BSDC1,downstream_gene_variant,,ENST00000526031,;FAM229A,upstream_gene_variant,,ENST00000432622,;BSDC1,downstream_gene_variant,,ENST00000419121,;FAM229A,intron_variant,,ENST00000415596,;FAM229A,non_coding_transcript_exon_variant,,ENST00000416512,;BSDC1,downstream_gene_variant,,ENST00000444377,;	627	198	154	SUCCESS
MACF1	23499	.	GRCh37	1	39800759	39800759	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	35	226	0	ENST00000372915.3:c.8514G>A	p.Gly2838=	p.G2838=	ENST00000372915		2838	ggG/ggA	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGGAGCA	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	.	226	184	SUCCESS
C1orf123	0	.	GRCh37	1	53682485	53682485	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777017649	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	137	0	ENST00000294360.4:c.308G>A	p.Arg103Gln	p.R103Q	ENST00000294360	NM_017887.1	103	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS576.1	308	MUTECT|MUSE	.	GGCCCCGGCAC	NONE	byFrequency	.	Superfamily_domains:0051633,Pfam_domain:PF05907,hmmpanther:PTHR12857:SF0,hmmpanther:PTHR12857	.	.	ENSP00000294360	.	6/8	.	.	.	.	.	.	.	.	rs777017649	6/8	PASS	ENST00000294360	Transcript	.	.	ENSG00000162384	26059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.221)	.	deleterious(0.03)	.	CA123_HUMAN	C1orf123	HGNC	D3DQ38_HUMAN	.	UPI000006D354	SNV	C1orf123,missense_variant,p.Arg103Gln,ENST00000294360,;CPT2,downstream_gene_variant,,ENST00000371486,;RP5-1024G6.2,upstream_gene_variant,,ENST00000452466,;RP5-1024G6.7,upstream_gene_variant,,ENST00000569869,;C1orf123,non_coding_transcript_exon_variant,,ENST00000470385,;C1orf123,non_coding_transcript_exon_variant,,ENST00000478839,;C1orf123,non_coding_transcript_exon_variant,,ENST00000489755,;C1orf123,non_coding_transcript_exon_variant,,ENST00000483739,;C1orf123,downstream_gene_variant,,ENST00000474227,;C1orf123,downstream_gene_variant,,ENST00000602807,;	350	137	80	SUCCESS
KIAA1107	284697	.	GRCh37	1	92646304	92646304	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	51	318	0	ENST00000370378.4:c.1750G>T	p.Glu584Ter	p.E584*	ENST00000370378	NM_015237.2	584	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS44172.1	1750	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGAGAAG	NONE	.	.	hmmpanther:PTHR22427	.	.	ENSP00000359404	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000370378	Transcript	.	.	ENSG00000069712	29192	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	KIAA1107	HGNC	E9PEZ5_HUMAN	.	UPI00017C1449	SNV	KIAA1107,stop_gained,p.Glu584Ter,ENST00000370378,;KIAA1107,stop_gained,p.Glu639Ter,ENST00000409154,;	1848	318	236	SUCCESS
MICALL1	85377	.	GRCh37	22	38318092	38318092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	50	159	0	ENST00000215957.6:c.683G>A	p.Gly228Glu	p.G228E	ENST00000215957	NM_033386.3	228	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS13961.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGGGACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33	.	.	ENSP00000215957	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.57)	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,missense_variant,p.Gly228Glu,ENST00000215957,;MICALL1,missense_variant,p.Gly144Glu,ENST00000445494,;MICALL1,upstream_gene_variant,,ENST00000454685,;MICALL1,upstream_gene_variant,,ENST00000402631,;MICALL1,downstream_gene_variant,,ENST00000489812,;	809	159	121	SUCCESS
TTL	150465	.	GRCh37	2	113278000	113278000	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	96	0	ENST00000233336.6:c.1017T>A		p.X339_splice	ENST00000233336	NM_153712.4	339	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2096.1	1017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTCAGTA	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,Pfam_domain:PF03133	.	.	ENSP00000233336	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000233336	Transcript	.	.	ENSG00000114999	21586	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTL_HUMAN	TTL	HGNC	.	.	UPI000004FDE7	SNV	TTL,synonymous_variant,p.%3D,ENST00000233336,;TTL,upstream_gene_variant,,ENST00000460450,;TTL,non_coding_transcript_exon_variant,,ENST00000476615,;	1208	96	64	SUCCESS
POTEF	728378	.	GRCh37	2	130878006	130878006	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	40	237	0	ENST00000357462.5:c.83G>A	p.Cys28Tyr	p.C28Y	ENST00000357462		28	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS46409.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCACCAC	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46	.	.	ENSP00000350052	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious_low_confidence(0)	.	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,missense_variant,p.Cys28Tyr,ENST00000361163,;POTEF,missense_variant,p.Cys28Tyr,ENST00000357462,;POTEF,missense_variant,p.Cys28Tyr,ENST00000360967,;POTEF,missense_variant,p.Cys28Tyr,ENST00000409914,;	177	237	140	SUCCESS
LRP1B	53353	.	GRCh37	2	141072505	141072505	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	103	0	ENST00000389484.3:c.12804A>T		p.X4268_splice	ENST00000389484	NM_018557.2	4268	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2182.1	12804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTAGAAC	NONE	.	.	PROSITE_profiles:PS50026,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000374135	.	83/91	.	.	.	.	.	.	.	.	.	83/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,synonymous_variant,p.%3D,ENST00000389484,;LRP1B,synonymous_variant,p.%3D,ENST00000437977,;	13776	103	45	SUCCESS
AC010127.3	0	.	GRCh37	2	167151214	167151214	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	34	199	0	ENST00000447809.2:n.1169T>C		p.*390*	ENST00000447809				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46441.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTTAATCT	NONE	.	.	.	.	.	ENSP00000386306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	MODIFIER	7/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,intron_variant,,ENST00000452182,;SCN9A,intron_variant,,ENST00000409672,;SCN9A,intron_variant,,ENST00000375387,;SCN9A,intron_variant,,ENST00000454569,;SCN9A,intron_variant,,ENST00000409435,;SCN9A,intron_variant,,ENST00000303354,;AC010127.3,non_coding_transcript_exon_variant,,ENST00000447809,;	.	199	139	SUCCESS
SESTD1	91404	.	GRCh37	2	179979934	179979935	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	88	0	ENST00000428443.3:c.1696dup	p.Cys566LeufsTer30	p.C566Lfs*30	ENST00000428443	NM_178123.4	566	tgc/tTgc	0	.	.	.	.	.	A	C/LX	protein_coding	YES	CCDS33338.1	1696-1697	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGGCATAAC	NONE	.	.	Superfamily_domains:SSF46966,Gene3D:1.20.58.60	.	.	ENSP00000415332	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	insertion	SESTD1,frameshift_variant,p.Cys566LeufsTer30,ENST00000428443,;SESTD1,3_prime_UTR_variant,,ENST00000335289,;SESTD1,3_prime_UTR_variant,,ENST00000446758,;	2013-2014	88	77	SUCCESS
FAM171B	165215	.	GRCh37	2	187618644	187618659	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	TTACATACCTTTTTAG	TTACATACCTTTTTAG	-	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	TTACATACCTTTTTAG	TTACATACCTTTTTAG	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	115	0	ENST00000304698.5:c.896-16_896-1del		p.X299_splice	ENST00000304698	NM_177454.3	299		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33347.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATTTTTTACATACCTTTTTAGGTGCT	NONE	.	.	.	.	.	ENSP00000304108	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304698	Transcript	.	.	ENSG00000144369	29412	.	.	HIGH	5/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F171B_HUMAN	FAM171B	HGNC	A8K122_HUMAN	.	UPI0000161631	deletion	FAM171B,splice_acceptor_variant,,ENST00000304698,;	.	115	68	SUCCESS
MYT1L	23040	.	GRCh37	2	1926369	1926369	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	9	71	0	ENST00000399161.2:c.1172C>A	p.Pro391His	p.P391H	ENST00000399161	NM_015025.2	391	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS46222.1	1172	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGGGGCTC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Pro391His,ENST00000399161,;MYT1L,missense_variant,p.Pro391His,ENST00000428368,;MYT1L,missense_variant,p.Pro45His,ENST00000602387,;	1842	71	63	SUCCESS
CENPO	79172	.	GRCh37	2	25038488	25038488	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs547353937	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	55	172	0	ENST00000260662.1:c.457C>T	p.His153Tyr	p.H153Y	ENST00000260662	NM_024322.2	153	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS1714.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCATTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14582,Pfam_domain:PF09496	.	.	ENSP00000370214	.	5/8	.	.	.	.	.	.	.	.	rs547353937	5/8	PASS	ENST00000380834	Transcript	.	.	ENSG00000138092	28152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CENPO_HUMAN	CENPO	HGNC	.	.	UPI000006F5F6	SNV	CENPO,missense_variant,p.His153Tyr,ENST00000260662,;CENPO,missense_variant,p.His153Tyr,ENST00000380834,;CENPO,missense_variant,p.His147Tyr,ENST00000473706,;ADCY3,downstream_gene_variant,,ENST00000260600,;ADCY3,downstream_gene_variant,,ENST00000498288,;ADCY3,downstream_gene_variant,,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000405392,;CENPO,non_coding_transcript_exon_variant,,ENST00000498362,;CENPO,upstream_gene_variant,,ENST00000395845,;CENPO,upstream_gene_variant,,ENST00000464156,;CENPO,non_coding_transcript_exon_variant,,ENST00000491031,;ADCY3,downstream_gene_variant,,ENST00000485887,;CENPO,downstream_gene_variant,,ENST00000486527,;	882	172	127	SUCCESS
HNRNPLL	92906	.	GRCh37	2	38810997	38810997	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	264	65	363	0	ENST00000449105.3:c.618A>G	p.Ile206Met	p.I206M	ENST00000449105		206	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS46261.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGTATCCC	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01649,Pfam_domain:PF13893,Gene3D:3.30.70.330,hmmpanther:PTHR11546:SF15,hmmpanther:PTHR11546	.	.	ENSP00000387088	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000409636	Transcript	.	.	ENSG00000143889	25127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.03)	.	HNRLL_HUMAN	HNRNPLL	HGNC	.	.	UPI000007462B	SNV	HNRNPLL,missense_variant,p.Ile145Met,ENST00000425682,;HNRNPLL,missense_variant,p.Ile206Met,ENST00000449105,;HNRNPLL,missense_variant,p.Ile206Met,ENST00000358367,;HNRNPLL,missense_variant,p.Ile206Met,ENST00000409328,;HNRNPLL,missense_variant,p.Ile201Met,ENST00000410076,;HNRNPLL,missense_variant,p.Ile206Met,ENST00000378915,;HNRNPLL,missense_variant,p.Ile201Met,ENST00000409636,;HNRNPLL,missense_variant,p.Ile206Met,ENST00000608859,;HNRNPLL,missense_variant,p.Ile141Met,ENST00000272249,;HNRNPLL,non_coding_transcript_exon_variant,,ENST00000488099,;	765	363	330	SUCCESS
AAK1	22848	.	GRCh37	2	69746125	69746125	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	66	0	ENST00000409085.4:c.1458A>T	p.Ala486=	p.A486=	ENST00000409085	NM_014911.3	486	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1893.2	1458	RADIA|VARSCANS	.	GTGCCTGCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22967:SF9,hmmpanther:PTHR22967	.	.	ENSP00000386456	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000409085	Transcript	.	.	ENSG00000115977	19679	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AAK1_HUMAN	AAK1	HGNC	.	.	UPI0001881663	SNV	AAK1,synonymous_variant,p.%3D,ENST00000406297,;AAK1,synonymous_variant,p.%3D,ENST00000409085,;AAK1,synonymous_variant,p.%3D,ENST00000409068,;SNORA36C,downstream_gene_variant,,ENST00000384289,;RN7SL604P,downstream_gene_variant,,ENST00000492589,;	1835	66	33	SUCCESS
MORC1	27136	.	GRCh37	3	108773723	108773723	+	synonymous_variant	Silent	SNP	G	G	T	rs7631480	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	10	172	0	ENST00000232603.5:c.1182C>A	p.Gly394=	p.G394=	ENST00000232603	NM_014429.3	394	ggC/ggA	0	A:0.0077	A:0.0076	.	A:0	.	T	G	protein_coding	YES	CCDS2955.1	1182	MUTECT|MUSE|VARSCANS	.	CCTGCGCCAAG	NONE	byFrequency|byCluster|by2Hit2Allele|byHapMap|by1000G	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	A:0	A:0	ENSP00000232603	A:0.001	14/28	.	.	.	.	.	.	.	.	rs7631480,COSM81426	14/28	PASS	ENST00000232603	Transcript	.	A:0.0022	ENSG00000114487	7198	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0	.	0,1	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,synonymous_variant,p.%3D,ENST00000483760,;MORC1,synonymous_variant,p.%3D,ENST00000232603,;	1265	172	124	SUCCESS
GRAMD1C	54762	.	GRCh37	3	113588361	113588361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	391	32	448	0	ENST00000358160.4:c.182G>T	p.Ser61Ile	p.S61I	ENST00000358160	NM_017577.4	61	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS33826.1	182	MUTECT|MUSE	.	TTCAAGTTCCA	NONE	.	.	hmmpanther:PTHR23319:SF1,hmmpanther:PTHR23319	.	.	ENSP00000350881	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000358160	Transcript	.	.	ENSG00000178075	25252	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	GRM1C_HUMAN	GRAMD1C	HGNC	C9J7B8_HUMAN,A8KA99_HUMAN	.	UPI00001AF15F	SNV	GRAMD1C,missense_variant,p.Ser61Ile,ENST00000358160,;GRAMD1C,5_prime_UTR_variant,,ENST00000452134,;GRAMD1C,non_coding_transcript_exon_variant,,ENST00000479212,;GRAMD1C,non_coding_transcript_exon_variant,,ENST00000486457,;GRAMD1C,non_coding_transcript_exon_variant,,ENST00000463760,;GRAMD1C,missense_variant,p.Ser61Ile,ENST00000472384,;GRAMD1C,missense_variant,p.Ser61Ile,ENST00000484714,;GRAMD1C,non_coding_transcript_exon_variant,,ENST00000498183,;	674	448	423	SUCCESS
GATA2	2624	.	GRCh37	3	128204630	128204630	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	65	0	ENST00000341105.2:c.811C>T	p.Leu271=	p.L271=	ENST00000341105	NM_032638.4	271	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3049.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10071:SF149,hmmpanther:PTHR10071,PIRSF_domain:PIRSF003027	.	.	ENSP00000345681	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000341105	Transcript	.	.	ENSG00000179348	4171	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATA2_HUMAN	GATA2	HGNC	C9J965_HUMAN	.	UPI00000730CD	SNV	GATA2,synonymous_variant,p.%3D,ENST00000487848,;GATA2,synonymous_variant,p.%3D,ENST00000341105,;GATA2,synonymous_variant,p.%3D,ENST00000430265,;GATA2,downstream_gene_variant,,ENST00000492608,;GATA2,downstream_gene_variant,,ENST00000498200,;RP11-475N22.4,upstream_gene_variant,,ENST00000464242,;RP11-475N22.4,upstream_gene_variant,,ENST00000473958,;RP11-475N22.4,upstream_gene_variant,,ENST00000468377,;GATA2,upstream_gene_variant,,ENST00000489987,;	1143	65	39	SUCCESS
RASA2	5922	.	GRCh37	3	141289753	141289753	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	135	0	ENST00000286364.3:c.864-1G>A		p.X288_splice	ENST00000286364		288		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3117.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAGGTACT	NONE	.	.	.	.	.	ENSP00000286364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286364	Transcript	.	.	ENSG00000155903	9872	.	.	HIGH	9/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA2_HUMAN	RASA2	HGNC	.	.	UPI00001351F5	SNV	RASA2,splice_acceptor_variant,,ENST00000286364,;RASA2,splice_acceptor_variant,,ENST00000452898,;	.	135	99	SUCCESS
GRK7	131890	.	GRCh37	3	141499234	141499234	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	36	159	0	ENST00000264952.2:c.635del	p.Asn212ThrfsTer16	p.N212Tfs*16	ENST00000264952	NM_139209.2	211	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS3120.1	631	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGTGAAAAAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000264952	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000264952	Transcript	.	.	ENSG00000114124	17031	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRK7_HUMAN	GRK7	HGNC	.	.	UPI000004244D	deletion	GRK7,frameshift_variant,p.Asn212ThrfsTer16,ENST00000264952,;	768	159	164	SUCCESS
PLSCR1	5359	.	GRCh37	3	146234891	146234891	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	65	265	0	ENST00000342435.4:c.802A>T	p.Arg268Ter	p.R268*	ENST00000342435	NM_021105.2	268	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS3135.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTCAAAA	NONE	.	.	Pfam_domain:PF03803,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF26	.	.	ENSP00000345494	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000342435	Transcript	.	.	ENSG00000188313	9092	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLS1_HUMAN	PLSCR1	HGNC	C9JSI9_HUMAN,C9JE06_HUMAN,C9J7K9_HUMAN	.	UPI0000001627	SNV	PLSCR1,stop_gained,p.Arg244Ter,ENST00000462666,;PLSCR1,stop_gained,p.Arg135Ter,ENST00000483300,;PLSCR1,stop_gained,p.Arg261Ter,ENST00000487389,;PLSCR1,stop_gained,p.Arg187Ter,ENST00000448787,;PLSCR1,stop_gained,p.Arg268Ter,ENST00000342435,;PLSCR1,5_prime_UTR_variant,,ENST00000448205,;PLSCR1,downstream_gene_variant,,ENST00000472349,;PLSCR1,downstream_gene_variant,,ENST00000486631,;PLSCR1,non_coding_transcript_exon_variant,,ENST00000484560,;PLSCR1,non_coding_transcript_exon_variant,,ENST00000470496,;PLSCR1,3_prime_UTR_variant,,ENST00000463777,;PLSCR1,3_prime_UTR_variant,,ENST00000489775,;PLSCR1,3_prime_UTR_variant,,ENST00000468985,;PLSCR1,3_prime_UTR_variant,,ENST00000478267,;PLSCR1,3_prime_UTR_variant,,ENST00000493432,;PLSCR1,3_prime_UTR_variant,,ENST00000488253,;PLSCR1,downstream_gene_variant,,ENST00000494568,;	1213	265	168	SUCCESS
ZIC4	84107	.	GRCh37	3	147113964	147113964	+	synonymous_variant	Silent	SNP	G	G	T	rs1361313383	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	121	0	ENST00000383075.3:c.363C>A	p.Arg121=	p.R121=	ENST00000383075	NM_032153.5	121	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54652.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCGCAT	NONE	.	.	hmmpanther:PTHR19818	.	.	ENSP00000435509	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000525172	Transcript	.	.	ENSG00000174963	20393	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZIC4_HUMAN	ZIC4	HGNC	C9JZU7_HUMAN,C9JD04_HUMAN,C9J6T3_HUMAN,B3KPI4_HUMAN	.	UPI0001914D88	SNV	ZIC4,synonymous_variant,p.%3D,ENST00000425731,;ZIC4,synonymous_variant,p.%3D,ENST00000473123,;ZIC4,synonymous_variant,p.%3D,ENST00000383075,;ZIC4,synonymous_variant,p.%3D,ENST00000462748,;ZIC4,synonymous_variant,p.%3D,ENST00000525172,;ZIC4,synonymous_variant,p.%3D,ENST00000484399,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,intron_variant,,ENST00000491672,;ZIC4,downstream_gene_variant,,ENST00000463250,;ZIC4,downstream_gene_variant,,ENST00000484586,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000463850,;ZIC4,upstream_gene_variant,,ENST00000475502,;ZIC4,upstream_gene_variant,,ENST00000464502,;ZIC4,upstream_gene_variant,,ENST00000472749,;ZIC4,non_coding_transcript_exon_variant,,ENST00000493664,;ZIC4,upstream_gene_variant,,ENST00000494569,;	699	121	118	SUCCESS
SLC4A7	9497	.	GRCh37	3	27436010	27436010	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	58	118	0	ENST00000295736.5:c.3089A>T	p.Lys1030Met	p.K1030M	ENST00000295736	NM_003615.4	1030	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS33721.1	3089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTTTAGG	NONE	.	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834	.	.	ENSP00000295736	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000295736	Transcript	.	.	ENSG00000033867	11033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	S4A7_HUMAN	SLC4A7	HGNC	.	.	UPI0000DBEEB7	SNV	SLC4A7,missense_variant,p.Lys580Met,ENST00000388777,;SLC4A7,missense_variant,p.Lys915Met,ENST00000435667,;SLC4A7,missense_variant,p.Lys1026Met,ENST00000445684,;SLC4A7,missense_variant,p.Lys1039Met,ENST00000454389,;SLC4A7,missense_variant,p.Lys581Met,ENST00000419036,;SLC4A7,missense_variant,p.Lys906Met,ENST00000428386,;SLC4A7,missense_variant,p.Lys1026Met,ENST00000440156,;SLC4A7,missense_variant,p.Lys911Met,ENST00000437179,;SLC4A7,missense_variant,p.Lys1030Met,ENST00000295736,;SLC4A7,missense_variant,p.Lys911Met,ENST00000455077,;SLC4A7,missense_variant,p.Lys926Met,ENST00000428179,;SLC4A7,missense_variant,p.Lys1022Met,ENST00000446700,;SLC4A7,splice_region_variant,,ENST00000425128,;SLC4A7,splice_region_variant,,ENST00000438530,;SLC4A7,splice_region_variant,,ENST00000457377,;SLC4A7,splice_region_variant,,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000475120,;SLC4A7,upstream_gene_variant,,ENST00000465487,;	3160	118	109	SUCCESS
CHL1-AS1	101927193	.	GRCh37	3	405083	405083	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs372485351	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	86	0	ENST00000417612.1:n.883C>T		p.*295*	ENST00000417612				0	C:0	.	.	.	.	A	.	protein_coding	YES	CCDS2556.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTGTTACT	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000256509	.	.	.	.	.	.	.	.	.	.	rs372485351	.	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODIFIER	14/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,intron_variant,,ENST00000397491,;CHL1,intron_variant,,ENST00000256509,;CHL1-AS1,non_coding_transcript_exon_variant,,ENST00000417612,;CHL1-AS1,downstream_gene_variant,,ENST00000608098,;CHL1,non_coding_transcript_exon_variant,,ENST00000471332,;CHL1,intron_variant,,ENST00000453040,;	.	86	91	SUCCESS
TGM4	7047	.	GRCh37	3	44926965	44926965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	66	156	0	ENST00000296125.4:c.168C>A	p.His56Gln	p.H56Q	ENST00000296125	NM_003241.3	56	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS2723.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCACCAACT	NONE	.	.	hmmpanther:PTHR11590:SF11,hmmpanther:PTHR11590,Pfam_domain:PF00868,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF81296	.	.	ENSP00000296125	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000296125	Transcript	.	.	ENSG00000163810	11780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	deleterious(0.01)	.	TGM4_HUMAN	TGM4	HGNC	Q9UBL5_HUMAN	.	UPI0000136CCD	SNV	TGM4,missense_variant,p.His56Gln,ENST00000296125,;TGM4,missense_variant,p.His56Gln,ENST00000422219,;TGM4,non_coding_transcript_exon_variant,,ENST00000490928,;TGM4,upstream_gene_variant,,ENST00000495844,;	236	156	129	SUCCESS
SLMAP	7871	.	GRCh37	3	57902658	57902658	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	67	279	0	ENST00000428312.1:c.2113A>G	p.Thr705Ala	p.T705A	ENST00000428312		705	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33774.1	2062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTACCAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF8	.	.	ENSP00000295951	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000295951	Transcript	.	.	ENSG00000163681	16643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious_low_confidence(0.01)	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,missense_variant,p.Thr198Ala,ENST00000494088,;SLMAP,missense_variant,p.Thr667Ala,ENST00000449503,;SLMAP,missense_variant,p.Thr289Ala,ENST00000417128,;SLMAP,missense_variant,p.Thr243Ala,ENST00000438794,;SLMAP,missense_variant,p.Thr173Ala,ENST00000442599,;SLMAP,missense_variant,p.Thr198Ala,ENST00000416870,;SLMAP,missense_variant,p.Thr688Ala,ENST00000295952,;SLMAP,missense_variant,p.Thr239Ala,ENST00000495364,;SLMAP,missense_variant,p.Thr313Ala,ENST00000416658,;SLMAP,missense_variant,p.Thr705Ala,ENST00000428312,;SLMAP,missense_variant,p.Thr688Ala,ENST00000295951,;SLMAP,downstream_gene_variant,,ENST00000461354,;SLMAP,upstream_gene_variant,,ENST00000460223,;SLMAP,downstream_gene_variant,,ENST00000466255,;SLMAP,downstream_gene_variant,,ENST00000472546,;SLMAP,non_coding_transcript_exon_variant,,ENST00000476471,;SLMAP,upstream_gene_variant,,ENST00000497084,;SLMAP,downstream_gene_variant,,ENST00000459654,;	3279	280	241	SUCCESS
TTLL3	26140	.	GRCh37	3	9876555	9876555	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	101	0	ENST00000426895.4:c.2316T>C	p.Asp772=	p.D772=	ENST00000426895		772	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS43048.2	2316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGATTTCAA	NONE	.	.	.	.	.	ENSP00000392549	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000426895	Transcript	.	.	ENSG00000214021	24483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TTLL3	HGNC	J3KQB2_HUMAN,C9JW59_HUMAN,C9JQ30_HUMAN	.	UPI0001B79456	SNV	TTLL3,synonymous_variant,p.%3D,ENST00000430793,;TTLL3,synonymous_variant,p.%3D,ENST00000426895,;TTLL3,synonymous_variant,p.%3D,ENST00000443148,;TTLL3,synonymous_variant,p.%3D,ENST00000547186,;ARPC4-TTLL3,3_prime_UTR_variant,,ENST00000397256,;TTLL3,3_prime_UTR_variant,,ENST00000383827,;TTLL3,3_prime_UTR_variant,,ENST00000397241,;TTLL3,intron_variant,,ENST00000471058,;TTLL3,intron_variant,,ENST00000455274,;TTLL3,downstream_gene_variant,,ENST00000310252,;RPUSD3,downstream_gene_variant,,ENST00000423108,;TTLL3,downstream_gene_variant,,ENST00000427853,;RPUSD3,downstream_gene_variant,,ENST00000433535,;RPUSD3,downstream_gene_variant,,ENST00000427174,;RPUSD3,downstream_gene_variant,,ENST00000424438,;RPUSD3,downstream_gene_variant,,ENST00000383820,;TTLL3,3_prime_UTR_variant,,ENST00000438141,;TTLL3,3_prime_UTR_variant,,ENST00000427220,;TTLL3,3_prime_UTR_variant,,ENST00000473661,;TTLL3,3_prime_UTR_variant,,ENST00000430390,;TTLL3,non_coding_transcript_exon_variant,,ENST00000493241,;TTLL3,non_coding_transcript_exon_variant,,ENST00000496526,;TTLL3,non_coding_transcript_exon_variant,,ENST00000483051,;RPUSD3,downstream_gene_variant,,ENST00000466141,;RPUSD3,downstream_gene_variant,,ENST00000464783,;	2335	101	99	SUCCESS
LARP1B	55132	.	GRCh37	4	129043173	129043173	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1173006126	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	71	232	0	ENST00000326639.6:c.1354A>G	p.Thr452Ala	p.T452A	ENST00000326639	NM_018078.3	452	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3738.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAACTCAG	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50	.	.	ENSP00000321997	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0.03)	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	SNV	LARP1B,missense_variant,p.Thr452Ala,ENST00000441387,;LARP1B,missense_variant,p.Thr452Ala,ENST00000512292,;LARP1B,missense_variant,p.Thr452Ala,ENST00000427266,;LARP1B,missense_variant,p.Thr405Ala,ENST00000264584,;LARP1B,missense_variant,p.Thr452Ala,ENST00000326639,;LARP1B,missense_variant,p.Thr405Ala,ENST00000508819,;LARP1B,missense_variant,p.Thr421Ala,ENST00000507377,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;LARP1B,upstream_gene_variant,,ENST00000507259,;	1565	232	184	SUCCESS
INPP4B	8821	.	GRCh37	4	143326464	143326464	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	38	0	ENST00000262992.4:c.150C>A	p.Leu50=	p.L50=	ENST00000262992	NM_001101669.1	50	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3757.1	150	MUTECT|MUSE	.	GCCACGAGATC	NONE	.	.	Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,synonymous_variant,p.%3D,ENST00000506217,;INPP4B,synonymous_variant,p.%3D,ENST00000508116,;INPP4B,synonymous_variant,p.%3D,ENST00000506788,;INPP4B,synonymous_variant,p.%3D,ENST00000509777,;INPP4B,synonymous_variant,p.%3D,ENST00000262992,;INPP4B,synonymous_variant,p.%3D,ENST00000513000,;INPP4B,synonymous_variant,p.%3D,ENST00000308502,;INPP4B,synonymous_variant,p.%3D,ENST00000510812,;INPP4B,non_coding_transcript_exon_variant,,ENST00000506517,;INPP4B,synonymous_variant,p.%3D,ENST00000512630,;INPP4B,3_prime_UTR_variant,,ENST00000506000,;INPP4B,upstream_gene_variant,,ENST00000506297,;INPP4B,upstream_gene_variant,,ENST00000507462,;	584	38	42	SUCCESS
NCAPG	64151	.	GRCh37	4	17829968	17829968	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs758713662	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	83	0	ENST00000251496.2:c.1721C>A	p.Ser574Ter	p.S574*	ENST00000251496	NM_022346.4	574	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS3424.1	1721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCAACAG	NONE	.	.	Pfam_domain:PF12719,hmmpanther:PTHR14418,hmmpanther:PTHR14418:SF5	.	.	ENSP00000251496	.	12/21	.	.	.	.	.	.	.	.	rs758713662	12/21	PASS	ENST00000251496	Transcript	.	.	ENSG00000109805	24304	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CND3_HUMAN	NCAPG	HGNC	.	.	UPI0000073296	SNV	NCAPG,stop_gained,p.Ser574Ter,ENST00000251496,;NCAPG,stop_gained,p.Ser139Ter,ENST00000510063,;NCAPG,3_prime_UTR_variant,,ENST00000514176,;	1897	83	53	SUCCESS
PGM2	55276	.	GRCh37	4	37848658	37848658	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1162747303	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	74	0	ENST00000381967.4:c.1114A>G	p.Thr372Ala	p.T372A	ENST00000381967	NM_018290.3	372	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3443.1	1114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACACGTAC	NONE	.	.	hmmpanther:PTHR22573:SF43,hmmpanther:PTHR22573,Gene3D:3.40.120.10,Pfam_domain:PF02880,Superfamily_domains:SSF53738	.	.	ENSP00000371393	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000381967	Transcript	.	.	ENSG00000169299	8906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	PGM2_HUMAN	PGM2	HGNC	Q4W5D6_HUMAN,F5H6V2_HUMAN	.	UPI000004A02B	SNV	PGM2,missense_variant,p.Thr212Ala,ENST00000537241,;PGM2,missense_variant,p.Thr233Ala,ENST00000544359,;PGM2,missense_variant,p.Thr372Ala,ENST00000381967,;PGM2,3_prime_UTR_variant,,ENST00000512556,;PGM2,3_prime_UTR_variant,,ENST00000505986,;PGM2,3_prime_UTR_variant,,ENST00000515668,;PGM2,upstream_gene_variant,,ENST00000510084,;	1214	74	65	SUCCESS
COX7B2	170712	.	GRCh37	4	46737255	46737255	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	151	0	ENST00000355591.3:c.-46C>G		p.*16*	ENST00000355591	NM_130902.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3472.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGAGGCT	NONE	.	.	.	.	.	ENSP00000379784	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396533	Transcript	.	.	ENSG00000170516	24381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX7B2_HUMAN	COX7B2	HGNC	D6R9N1_HUMAN	.	UPI000005034B	SNV	COX7B2,5_prime_UTR_variant,,ENST00000505102,;COX7B2,5_prime_UTR_variant,,ENST00000543208,;COX7B2,5_prime_UTR_variant,,ENST00000355591,;COX7B2,5_prime_UTR_variant,,ENST00000302930,;COX7B2,5_prime_UTR_variant,,ENST00000396533,;	206	151	119	SUCCESS
MEPE	56955	.	GRCh37	4	88760856	88760856	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	101	0	ENST00000361056.3:c.108+1019A>T		p.*36*	ENST00000361056	NM_020203.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3625.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTATGAGA	NONE	.	.	.	.	.	ENSP00000416984	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000424957	Transcript	.	.	ENSG00000152595	13361	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MEPE_HUMAN	MEPE	HGNC	.	.	UPI000003B034	SNV	MEPE,missense_variant,p.Tyr43Phe,ENST00000395102,;MEPE,5_prime_UTR_variant,,ENST00000497649,;MEPE,5_prime_UTR_variant,,ENST00000560249,;MEPE,intron_variant,,ENST00000511670,;MEPE,intron_variant,,ENST00000424957,;MEPE,intron_variant,,ENST00000361056,;MEPE,intron_variant,,ENST00000540395,;MEPE,non_coding_transcript_exon_variant,,ENST00000508016,;MEPE,intron_variant,,ENST00000515821,;	.	101	74	SUCCESS
DCP2	167227	.	GRCh37	5	112339697	112339697	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	67	196	0	ENST00000389063.2:c.865T>C	p.Trp289Arg	p.W289R	ENST00000389063	NM_152624.5	289	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS34210.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTGGGTA	NONE	.	.	hmmpanther:PTHR23114	.	.	ENSP00000373715	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000389063	Transcript	.	.	ENSG00000172795	24452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated_low_confidence(0.37)	.	DCP2_HUMAN	DCP2	HGNC	B7Z3U5_HUMAN	.	UPI000020C41B	SNV	DCP2,missense_variant,p.Trp271Arg,ENST00000513585,;DCP2,missense_variant,p.Trp289Arg,ENST00000515408,;DCP2,missense_variant,p.Trp78Arg,ENST00000543319,;DCP2,missense_variant,p.Trp289Arg,ENST00000389063,;DCP2,non_coding_transcript_exon_variant,,ENST00000508359,;DCP2,intron_variant,,ENST00000512751,;DCP2,downstream_gene_variant,,ENST00000502635,;	1063	196	192	SUCCESS
PCDHB1	29930	.	GRCh37	5	140431371	140431371	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	118	0	ENST00000306549.3:c.316T>C	p.Phe106Leu	p.F106L	ENST00000306549	NM_013340.2	106	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS4243.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACTTTGAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious(0.04)	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,missense_variant,p.Phe106Leu,ENST00000306549,;	393	118	102	SUCCESS
FGFR4	2264	.	GRCh37	5	176520656	176520656	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	81	0	ENST00000292408.4:c.1399C>A	p.Leu467Met	p.L467M	ENST00000292408	NM_213647.1	467	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS4410.1	1399	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCTGGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF312,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF56112	.	.	ENSP00000292408	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000292408	Transcript	.	.	ENSG00000160867	3691	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FGFR4_HUMAN	FGFR4	HGNC	G3JVM2_HUMAN,E7EWF4_HUMAN,D6RJD4_HUMAN,D6RG06_HUMAN,D6R9V0_HUMAN	.	UPI000012A72D	SNV	FGFR4,missense_variant,p.Leu427Met,ENST00000393637,;FGFR4,missense_variant,p.Leu427Met,ENST00000292410,;FGFR4,missense_variant,p.Leu467Met,ENST00000502906,;FGFR4,missense_variant,p.Leu99Met,ENST00000511076,;FGFR4,missense_variant,p.Leu467Met,ENST00000292408,;FGFR4,missense_variant,p.Leu399Met,ENST00000393648,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,downstream_gene_variant,,ENST00000508139,;FGFR4,upstream_gene_variant,,ENST00000513423,;FGFR4,downstream_gene_variant,,ENST00000509511,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000426612,;	1644	81	59	SUCCESS
HMGCS1	3157	.	GRCh37	5	43291268	43291268	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754716585	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	78	0	ENST00000325110.6:c.1528C>A	p.Pro510Thr	p.P510T	ENST00000325110	NM_001098272.2	510	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS34154.1	1528	RADIA|MUSE|VARSCANS	.	TTCAGGTTCTG	NONE	byFrequency	.	.	.	.	ENSP00000322706	.	11/11	.	.	.	.	.	.	.	.	rs754716585	11/11	PASS	ENST00000325110	Transcript	.	.	ENSG00000112972	5007	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.02)	.	HMCS1_HUMAN	HMGCS1	HGNC	Q8N995_HUMAN,D6RIW1_HUMAN	.	UPI000012C9BC	SNV	HMGCS1,missense_variant,p.Pro510Thr,ENST00000433297,;HMGCS1,missense_variant,p.Pro510Thr,ENST00000325110,;CTD-2636A23.2,downstream_gene_variant,,ENST00000565748,;CTD-2636A23.2,downstream_gene_variant,,ENST00000569313,;HMGCS1,downstream_gene_variant,,ENST00000508319,;HMGCS1,downstream_gene_variant,,ENST00000514610,;	1735	78	75	SUCCESS
HIVEP2	3097	.	GRCh37	6	143091533	143091533	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	90	0	ENST00000012134.2:c.4343T>C	p.Leu1448Ser	p.L1448S	ENST00000012134		1448	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS43510.1	4343	RADIA|VARSCANS	.	GCTCCAAGCTA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53	.	.	ENSP00000356575	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367603	Transcript	.	.	ENSG00000010818	4921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZEP2_HUMAN	HIVEP2	HGNC	B4DKE9_HUMAN	.	UPI00004708DD	SNV	HIVEP2,missense_variant,p.Leu1448Ser,ENST00000367603,;HIVEP2,missense_variant,p.Leu1448Ser,ENST00000012134,;HIVEP2,missense_variant,p.Leu1448Ser,ENST00000367604,;	5086	90	36	SUCCESS
PNLDC1	154197	.	GRCh37	6	160240288	160240288	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs778909851	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	51	0	ENST00000610273.1:c.1403C>T	p.Ala468Val	p.A468V	ENST00000610273	NM_173516.2	468	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS64561.1	1403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGCGGA	NONE	byFrequency	.	hmmpanther:PTHR15092:SF8,hmmpanther:PTHR15092	.	.	ENSP00000476448	.	18/19	.	.	.	.	.	.	.	.	rs778909851	18/19	PASS	ENST00000610273	Transcript	.	.	ENSG00000146453	21185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.71)	.	.	PNLDC1	HGNC	.	.	UPI00000717EB	SNV	PNLDC1,missense_variant,p.Ala468Val,ENST00000610273,;PNLDC1,missense_variant,p.Ala479Val,ENST00000392167,;PNLDC1,splice_region_variant,,ENST00000275275,;PNLDC1,downstream_gene_variant,,ENST00000609658,;	1574	51	39	SUCCESS
CDKAL1	54901	.	GRCh37	6	20955770	20955770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	5	105	0	ENST00000274695.4:c.863T>C	p.Leu288Pro	p.L288P	ENST00000274695	NM_017774.3	288	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4546.1	863	MUTECT|MUSE	.	AATGCTGAGGC	NONE	.	.	hmmpanther:PTHR11918,hmmpanther:PTHR11918:SF45,TIGRFAM_domain:TIGR00089,Pfam_domain:PF04055,Gene3D:2qgqB01,TIGRFAM_domain:TIGR01578,SMART_domains:SM00729,Superfamily_domains:SSF102114	.	.	ENSP00000274695	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000274695	Transcript	.	.	ENSG00000145996	21050	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CDKAL_HUMAN	CDKAL1	HGNC	.	.	UPI000013DA21	SNV	CDKAL1,missense_variant,p.Leu288Pro,ENST00000274695,;CDKAL1,missense_variant,p.Leu288Pro,ENST00000378610,;CDKAL1,missense_variant,p.Leu218Pro,ENST00000378624,;	1030	105	82	SUCCESS
PPP1R10	5514	.	GRCh37	6	30571840	30571840	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	85	0	ENST00000376511.2:c.1453A>G	p.Ile485Val	p.I485V	ENST00000376511	NM_002714.3	485	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS4681.1	1453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATATATC	NONE	.	.	hmmpanther:PTHR12506	.	.	ENSP00000365694	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000376511	Transcript	.	.	ENSG00000204569	9284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.28)	.	PP1RA_HUMAN	PPP1R10	HGNC	Q2L6I0_HUMAN	.	UPI000000D73C	SNV	PPP1R10,missense_variant,p.Ile485Val,ENST00000376511,;PPP1R10,non_coding_transcript_exon_variant,,ENST00000496955,;PPP1R10,downstream_gene_variant,,ENST00000468181,;PPP1R10,downstream_gene_variant,,ENST00000461593,;PPP1R10,downstream_gene_variant,,ENST00000476704,;	2006	85	43	SUCCESS
STK19	8859	.	GRCh37	6	31939824	31939824	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	103	0	ENST00000375331.2:c.51G>C	p.Trp17Cys	p.W17C	ENST00000375331	NM_004197.1	17	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS4733.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGCGGGC	NONE	.	.	.	.	.	ENSP00000364482	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000375333	Transcript	.	.	ENSG00000204344	11398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	deleterious_low_confidence(0.03)	.	STK19_HUMAN	STK19	HGNC	C9J6S8_HUMAN	.	UPI0000136063	SNV	STK19,missense_variant,p.Trp17Cys,ENST00000375331,;STK19,missense_variant,p.Trp17Cys,ENST00000460018,;STK19,missense_variant,p.Trp17Cys,ENST00000375333,;DXO,5_prime_UTR_variant,,ENST00000375349,;DXO,5_prime_UTR_variant,,ENST00000337523,;DXO,upstream_gene_variant,,ENST00000495340,;SKIV2L,downstream_gene_variant,,ENST00000544581,;SKIV2L,downstream_gene_variant,,ENST00000491994,;SKIV2L,downstream_gene_variant,,ENST00000375394,;DXO,upstream_gene_variant,,ENST00000375356,;DXO,non_coding_transcript_exon_variant,,ENST00000474587,;DXO,non_coding_transcript_exon_variant,,ENST00000478221,;SKIV2L,downstream_gene_variant,,ENST00000470453,;STK19,upstream_gene_variant,,ENST00000463823,;SKIV2L,downstream_gene_variant,,ENST00000461915,;SKIV2L,downstream_gene_variant,,ENST00000471818,;DXO,upstream_gene_variant,,ENST00000487914,;STK19,upstream_gene_variant,,ENST00000466336,;DXO,5_prime_UTR_variant,,ENST00000480240,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;DXO,non_coding_transcript_exon_variant,,ENST00000492946,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;STK19,non_coding_transcript_exon_variant,,ENST00000479644,;STK19,non_coding_transcript_exon_variant,,ENST00000466132,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;STK19,non_coding_transcript_exon_variant,,ENST00000492583,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;DXO,upstream_gene_variant,,ENST00000498357,;STK19,upstream_gene_variant,,ENST00000483801,;SKIV2L,downstream_gene_variant,,ENST00000474839,;DXO,upstream_gene_variant,,ENST00000491327,;SKIV2L,downstream_gene_variant,,ENST00000465703,;DXO,upstream_gene_variant,,ENST00000460058,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,downstream_gene_variant,,ENST00000485349,;	104	103	70	SUCCESS
C4B	721	.	GRCh37	6	31994757	31994757	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	rs1322370769	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	62	0	ENST00000435363.2:c.2453-3C>G		p.X818_splice	ENST00000435363	NM_001002029.3	818		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47405.1	.	RADIA|VARSCANS	.	TCCCTCAGGCC	NONE	.	.	.	.	.	ENSP00000415941	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435363	Transcript	.	.	ENSG00000224389	1324	.	.	LOW	19/40	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4B_HUMAN	C4B	HGNC	Q9UMV1_HUMAN,Q9UM89_HUMAN,Q6U2M2_HUMAN,Q6U2E7_HUMAN,Q6U2E0_HUMAN	.	UPI000016A806	SNV	C4B,splice_region_variant,,ENST00000435363,;C4B,splice_region_variant,,ENST00000425700,;C4B,upstream_gene_variant,,ENST00000478438,;C4B,downstream_gene_variant,,ENST00000461632,;C4B,upstream_gene_variant,,ENST00000478388,;C4B,upstream_gene_variant,,ENST00000468936,;C4B,upstream_gene_variant,,ENST00000485263,;C4B,upstream_gene_variant,,ENST00000463249,;C4B,upstream_gene_variant,,ENST00000486992,;C4B,upstream_gene_variant,,ENST00000474912,;	.	62	74	SUCCESS
KIF6	221458	.	GRCh37	6	39387781	39387781	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	36	139	0	ENST00000287152.7:c.1755-2A>G		p.X585_splice	ENST00000287152	NM_145027.4	585		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4844.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTGGAGG	NONE	.	.	.	.	.	ENSP00000287152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	HIGH	14/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,splice_acceptor_variant,,ENST00000394362,;KIF6,splice_acceptor_variant,,ENST00000287152,;KIF6,splice_acceptor_variant,,ENST00000373213,;KIF6,splice_acceptor_variant,,ENST00000373215,;KIF6,splice_acceptor_variant,,ENST00000373216,;KIF6,splice_acceptor_variant,,ENST00000229913,;KIF6,splice_acceptor_variant,,ENST00000541946,;KIF6,splice_acceptor_variant,,ENST00000458470,;KIF6,splice_acceptor_variant,,ENST00000538893,;	.	139	123	SUCCESS
USP49	25862	.	GRCh37	6	41766302	41766302	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	52	0	ENST00000373009.3:c.1876+160G>A		p.*626*	ENST00000373009				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4861.1	.	RADIA|VARSCANS	.	AGCCACGGCGC	NONE	.	.	.	.	.	ENSP00000362097	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373006	Transcript	.	.	ENSG00000164663	20078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP49_HUMAN	USP49	HGNC	A6PVU2_HUMAN	.	UPI00000738AB	SNV	USP49,3_prime_UTR_variant,,ENST00000373006,;USP49,3_prime_UTR_variant,,ENST00000297229,;USP49,intron_variant,,ENST00000394253,;USP49,intron_variant,,ENST00000373009,;USP49,intron_variant,,ENST00000373010,;USP49,intron_variant,,ENST00000448078,;	2258	52	35	SUCCESS
GPR116	0	.	GRCh37	6	46828584	46828584	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	89	0	ENST00000265417.7:c.2247G>T	p.Leu749=	p.L749=	ENST00000265417	NM_015234.4	749	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4919.1	2247	MUTECT|MUSE|VARSCANS	.	TCCTTCAGGTA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272	.	.	ENSP00000283296	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	SNV	GPR116,synonymous_variant,p.%3D,ENST00000545669,;GPR116,synonymous_variant,p.%3D,ENST00000265417,;GPR116,synonymous_variant,p.%3D,ENST00000456426,;GPR116,synonymous_variant,p.%3D,ENST00000283296,;GPR116,synonymous_variant,p.%3D,ENST00000362015,;GPR116,non_coding_transcript_exon_variant,,ENST00000498632,;	2536	89	81	SUCCESS
BAG2	9532	.	GRCh37	6	57037534	57037534	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	41	212	0	ENST00000370693.5:c.39G>T	p.Gly13=	p.G13=	ENST00000370693	NM_004282.3	13	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4961.1	39	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGCGCTT	NONE	.	.	hmmpanther:PTHR12334	.	.	ENSP00000359727	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370693	Transcript	.	.	ENSG00000112208	938	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BAG2_HUMAN	BAG2	HGNC	.	.	UPI0000126768	SNV	BAG2,synonymous_variant,p.%3D,ENST00000370693,;ZNF451,downstream_gene_variant,,ENST00000357489,;ZNF451,downstream_gene_variant,,ENST00000370706,;BAG2,upstream_gene_variant,,ENST00000545080,;RP11-203B9.4,intron_variant,,ENST00000585414,;RP11-203B9.4,intron_variant,,ENST00000609545,;RP11-203B9.4,upstream_gene_variant,,ENST00000416069,;RP11-203B9.4,upstream_gene_variant,,ENST00000587815,;RP11-203B9.4,upstream_gene_variant,,ENST00000586432,;RP11-203B9.4,upstream_gene_variant,,ENST00000586053,;RP11-203B9.4,upstream_gene_variant,,ENST00000588811,;RP11-203B9.4,upstream_gene_variant,,ENST00000591553,;RP11-203B9.4,upstream_gene_variant,,ENST00000585792,;RP11-203B9.4,upstream_gene_variant,,ENST00000590164,;RP11-203B9.4,upstream_gene_variant,,ENST00000589263,;RP11-203B9.4,upstream_gene_variant,,ENST00000588819,;RP11-203B9.4,upstream_gene_variant,,ENST00000586234,;RP11-203B9.4,upstream_gene_variant,,ENST00000589312,;RP11-203B9.4,upstream_gene_variant,,ENST00000592038,;RP11-203B9.4,upstream_gene_variant,,ENST00000592500,;RP11-203B9.4,upstream_gene_variant,,ENST00000586466,;RP11-203B9.4,upstream_gene_variant,,ENST00000592785,;RP11-203B9.4,upstream_gene_variant,,ENST00000586668,;RP11-203B9.4,upstream_gene_variant,,ENST00000589549,;RP11-203B9.4,upstream_gene_variant,,ENST00000589394,;ZNF451,downstream_gene_variant,,ENST00000504603,;ZNF451,downstream_gene_variant,,ENST00000504364,;	411	212	182	SUCCESS
DSP	1832	.	GRCh37	6	7568673	7568673	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	91	0	ENST00000379802.3:c.1270G>T	p.Glu424Ter	p.E424*	ENST00000379802	NM_004415.2	424	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4501.1	1270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGAACGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,stop_gained,p.Glu424Ter,ENST00000379802,;DSP,stop_gained,p.Glu424Ter,ENST00000418664,;DSP,downstream_gene_variant,,ENST00000506617,;	1611	91	55	SUCCESS
PHIP	55023	.	GRCh37	6	79665367	79665367	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs148189504	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	112	422	0	ENST00000275034.4:c.3815A>G	p.Tyr1272Cys	p.Y1272C	ENST00000275034	NM_017934.5	1272	tAt/tGt	0	C:0.0009	C:0.0015	.	C:0	.	C	Y/C	protein_coding	YES	CCDS4987.1	3815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTATAAAGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	C:0	C:0	ENSP00000275034	C:0	33/40	.	.	.	.	.	.	.	.	rs148189504	33/40	PASS	ENST00000275034	Transcript	.	C:0.0004	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	C:0	tolerated(0.13)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Tyr1272Cys,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	3983	422	294	SUCCESS
FHL5	9457	.	GRCh37	6	97052637	97052637	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	60	0	ENST00000326771.2:c.171C>A	p.Tyr57Ter	p.Y57*	ENST00000326771	NM_020482.4	57	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS5035.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTACAAAGA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF6,hmmpanther:PTHR24205,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000326022	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000326771	Transcript	.	.	ENSG00000112214	17371	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHL5_HUMAN	FHL5	HGNC	.	.	UPI000006F158	SNV	FHL5,stop_gained,p.Tyr57Ter,ENST00000450218,;FHL5,stop_gained,p.Tyr57Ter,ENST00000541107,;FHL5,stop_gained,p.Tyr57Ter,ENST00000326771,;	551	60	53	SUCCESS
TAS2R60	338398	.	GRCh37	7	143141236	143141236	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	25	73	0	ENST00000332690.1:c.691A>G	p.Thr231Ala	p.T231A	ENST00000332690	NM_177437.1	231	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5885.1	691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAACCTCA	NONE	.	.	hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF32,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000327724	.	1/1	.	.	.	.	.	.	.	.	COSM3736436	1/1	PASS	ENST00000332690	Transcript	.	.	ENSG00000185899	20639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.01)	.	tolerated(0.85)	1	T2R60_HUMAN	TAS2R60	HGNC	Q50KC8_HUMAN	.	UPI000000D824	SNV	TAS2R60,missense_variant,p.Thr231Ala,ENST00000332690,;EPHA1-AS1,intron_variant,,ENST00000429289,;	691	73	41	SUCCESS
GLI3	2737	.	GRCh37	7	42011956	42011956	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199606102	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	81	0	ENST00000395925.3:c.2083G>A	p.Val695Ile	p.V695I	ENST00000395925	NM_000168.5	695	Gtc/Atc	0	.	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS5465.1	2083	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGACGGTTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	T:0.001	.	ENSP00000379258	T:0	13/15	.	.	.	.	.	.	.	.	rs199606102,COSM3881018	13/15	PASS	ENST00000395925	Transcript	.	T:0.0002	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.053)	T:0	tolerated(1)	0,1	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Val695Ile,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,downstream_gene_variant,,ENST00000464291,;	2168	81	34	SUCCESS
GRB10	2887	.	GRCh37	7	50683962	50683962	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	138	0	ENST00000398812.2:c.929T>C	p.Leu310Pro	p.L310P	ENST00000398812	NM_005311.4	310	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS43582.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACAGCTTT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR11243:SF4,hmmpanther:PTHR11243,PROSITE_profiles:PS50003	.	.	ENSP00000381793	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000398812	Transcript	.	.	ENSG00000106070	4564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0.01)	.	GRB10_HUMAN	GRB10	HGNC	Q75MT1_HUMAN,Q75M93_HUMAN	.	UPI000012BA84	SNV	GRB10,missense_variant,p.Leu252Pro,ENST00000406641,;GRB10,missense_variant,p.Leu310Pro,ENST00000398812,;GRB10,missense_variant,p.Leu252Pro,ENST00000398810,;GRB10,missense_variant,p.Leu310Pro,ENST00000401949,;GRB10,missense_variant,p.Leu304Pro,ENST00000403097,;GRB10,missense_variant,p.Leu252Pro,ENST00000407526,;GRB10,missense_variant,p.Leu252Pro,ENST00000402578,;GRB10,missense_variant,p.Leu304Pro,ENST00000439599,;GRB10,missense_variant,p.Leu252Pro,ENST00000402497,;GRB10,missense_variant,p.Leu252Pro,ENST00000335866,;GRB10,intron_variant,,ENST00000357271,;GRB10,downstream_gene_variant,,ENST00000428711,;	960	138	65	SUCCESS
VPS13B	157680	.	GRCh37	8	100127975	100127975	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	643	48	361	0	ENST00000358544.2:c.810A>G	p.Gln270=	p.Q270=	ENST00000358544	NM_017890.4	270	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS6280.1	810	MUTECT|MUSE	.	CAACAACTGCC	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	7/62	.	.	.	.	.	.	.	.	.	7/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,synonymous_variant,p.%3D,ENST00000441350,;VPS13B,synonymous_variant,p.%3D,ENST00000355155,;VPS13B,synonymous_variant,p.%3D,ENST00000395996,;VPS13B,synonymous_variant,p.%3D,ENST00000358544,;VPS13B,synonymous_variant,p.%3D,ENST00000357162,;CTD-2340D6.1,upstream_gene_variant,,ENST00000523226,;VPS13B,intron_variant,,ENST00000524330,;VPS13B,synonymous_variant,p.%3D,ENST00000496144,;	921	361	691	SUCCESS
LRP12	29967	.	GRCh37	8	105509945	105509945	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	181	143	0	ENST00000276654.5:c.835T>G	p.Tyr279Asp	p.Y279D	ENST00000276654	NM_013437.4	279	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS6303.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATAAAAGT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000276654	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,missense_variant,p.Tyr279Asp,ENST00000276654,;LRP12,missense_variant,p.Tyr260Asp,ENST00000424843,;LRP12,upstream_gene_variant,,ENST00000523007,;LRP12,downstream_gene_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,upstream_gene_variant,,ENST00000522046,;	944	143	226	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110457250	110457250	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	223	27	123	0	ENST00000378402.5:c.5152G>A	p.Ala1718Thr	p.A1718T	ENST00000378402	NM_177531.4	1718	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47911.1	5152	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCCCAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	38/78	.	.	.	.	.	.	.	.	.	38/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.44)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Ala1718Thr,ENST00000378402,;	5256	123	250	SUCCESS
CSMD3	114788	.	GRCh37	8	113249531	113249531	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	141	131	1	ENST00000297405.5:c.10515C>T	p.Tyr3505=	p.Y3505=	ENST00000297405	NM_198123.1	3505	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6315.1	10515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGTAAGA	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44	.	.	ENSP00000297405	.	67/71	.	.	.	.	.	.	.	.	COSM3995818,COSM3995819	67/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	10760	132	181	SUCCESS
EXT1	2131	.	GRCh37	8	119122935	119122935	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	314	17	219	0	ENST00000378204.2:c.351C>T	p.Tyr117=	p.Y117=	ENST00000378204	NM_000127.2	117	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6324.1	351	MUTECT|MUSE	.	TATACGTAGAC	NONE	.	.	Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF45	.	.	ENSP00000367446	.	1/11	.	.	.	.	.	.	.	.	CD099286	1/11	PASS	ENST00000378204	Transcript	1	.	ENSG00000182197	3512	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	.	EXT1_HUMAN	EXT1	HGNC	T2FFJ4_HUMAN,S5Y321_HUMAN,D7RTA7_HUMAN	.	UPI000012A3A1	SNV	EXT1,synonymous_variant,p.%3D,ENST00000378204,;EXT1,upstream_gene_variant,,ENST00000436216,;EXT1,intron_variant,,ENST00000437196,;	1158	219	332	SUCCESS
DLC1	10395	.	GRCh37	8	12952358	12952358	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765021363	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	111	0	ENST00000276297.4:c.3436G>T	p.Val1146Leu	p.V1146L	ENST00000276297	NM_182643.2	1146	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS5989.1	3436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACGTCAT	NONE	byFrequency	.	PROSITE_profiles:PS50238,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000276297	.	12/18	.	.	.	.	.	.	.	.	rs765021363	12/18	PASS	ENST00000276297	Transcript	.	.	ENSG00000164741	2897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	RHG07_HUMAN	DLC1	HGNC	.	.	UPI0000210275	SNV	DLC1,missense_variant,p.Val709Leu,ENST00000358919,;DLC1,missense_variant,p.Val635Leu,ENST00000520226,;DLC1,missense_variant,p.Val743Leu,ENST00000512044,;DLC1,missense_variant,p.Val1146Leu,ENST00000276297,;DLC1,non_coding_transcript_exon_variant,,ENST00000513883,;DLC1,non_coding_transcript_exon_variant,,ENST00000510318,;DLC1,downstream_gene_variant,,ENST00000510250,;	3846	111	33	SUCCESS
PSD3	23362	.	GRCh37	8	18658787	18658787	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	71	475	0	ENST00000440756.2:c.2016T>G	p.Ala672=	p.A672=	ENST00000440756		672	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS43720.1	2016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAAGCAAT	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000324127	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000327040	Transcript	.	.	ENSG00000156011	19093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD3_HUMAN	PSD3	HGNC	E5RJE4_HUMAN,E5RJ29_HUMAN	.	UPI0000210A46	SNV	PSD3,synonymous_variant,p.%3D,ENST00000523619,;PSD3,synonymous_variant,p.%3D,ENST00000327040,;PSD3,synonymous_variant,p.%3D,ENST00000519851,;PSD3,synonymous_variant,p.%3D,ENST00000286485,;PSD3,synonymous_variant,p.%3D,ENST00000520858,;PSD3,synonymous_variant,p.%3D,ENST00000440756,;PSD3,downstream_gene_variant,,ENST00000521027,;PSD3,non_coding_transcript_exon_variant,,ENST00000519653,;PSD3,synonymous_variant,p.%3D,ENST00000518315,;PSD3,3_prime_UTR_variant,,ENST00000517971,;PSD3,non_coding_transcript_exon_variant,,ENST00000518303,;PSD3,non_coding_transcript_exon_variant,,ENST00000518963,;PSD3,downstream_gene_variant,,ENST00000519633,;	2119	476	178	SUCCESS
CSMD1	64478	.	GRCh37	8	3087644	3087644	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	136	0	ENST00000537824.1:c.4263T>C	p.Tyr1421=	p.Y1421=	ENST00000537824	NM_033225.5	1421	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS55189.1	4263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGATAGCC	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	27/70	.	.	.	.	.	.	.	.	COSM1137866,COSM1137865	27/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4263	136	52	SUCCESS
CSMD1	64478	.	GRCh37	8	3326340	3326340	+	synonymous_variant	Silent	SNP	C	C	A	rs753486915	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	45	0	ENST00000537824.1:c.1455G>T	p.Thr485=	p.T485=	ENST00000537824	NM_033225.5	485	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS55189.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GATCCCGTGAG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	12/70	.	.	.	.	.	.	.	.	rs753486915,COSM329279,COSM329280	12/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000524177,;CSMD1,non_coding_transcript_exon_variant,,ENST00000520630,;	1455	45	16	SUCCESS
ADRB3	155	.	GRCh37	8	37823680	37823680	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1371087653	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	116	1	ENST00000345060.3:c.308G>A	p.Trp103Ter	p.W103*	ENST00000345060	NM_000025.2	103	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS6099.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCCAGTGG	NONE	.	.	Prints_domain:PR01103,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF3,PROSITE_profiles:PS50262	.	.	ENSP00000343782	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000345060	Transcript	.	.	ENSG00000188778	288	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADRB3_HUMAN	ADRB3	HGNC	A8KAG8_HUMAN	.	UPI0000047C3B	SNV	ADRB3,stop_gained,p.Trp103Ter,ENST00000345060,;ADRB3,upstream_gene_variant,,ENST00000520341,;	804	117	47	SUCCESS
C8orf34	116328	.	GRCh37	8	69358638	69358638	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	559	21	356	1	ENST00000518698.1:c.550T>C	p.Ser184Pro	p.S184P	ENST00000518698	NM_052958.2	184	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6203.2	550	MUTECT|MUSE	.	AAAAATCAAAA	NONE	.	.	hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF2	.	.	ENSP00000427820	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000518698	Transcript	.	.	ENSG00000165084	30905	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CH034_HUMAN	C8orf34	HGNC	.	.	UPI000021D12D	SNV	C8orf34,missense_variant,p.Ser98Pro,ENST00000539993,;C8orf34,missense_variant,p.Ser73Pro,ENST00000337103,;C8orf34,missense_variant,p.Ser98Pro,ENST00000348340,;C8orf34,missense_variant,p.Ser184Pro,ENST00000518698,;C8orf34,missense_variant,p.Ser98Pro,ENST00000523686,;C8orf34,non_coding_transcript_exon_variant,,ENST00000349492,;C8orf34,missense_variant,p.Ser73Pro,ENST00000521406,;	841	357	580	SUCCESS
TMEM64	169200	.	GRCh37	8	91657520	91657520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	6	75	0	ENST00000458549.2:c.614G>T	p.Gly205Val	p.G205V	ENST00000458549	NM_001008495.3	205	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS34920.2	614	MUTECT|MUSE	.	AGGTGCCGATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF5,Pfam_domain:PF09335	.	.	ENSP00000414786	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000458549	Transcript	.	.	ENSG00000180694	25441	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	TMM64_HUMAN	TMEM64	HGNC	B3KW24_HUMAN	.	UPI0000DBEF28	SNV	TMEM64,missense_variant,p.Gly205Val,ENST00000418210,;TMEM64,missense_variant,p.Gly74Val,ENST00000422900,;TMEM64,missense_variant,p.Gly205Val,ENST00000458549,;TMEM64,intron_variant,,ENST00000519519,;TMEM64,intron_variant,,ENST00000521852,;RP11-68L18.1,upstream_gene_variant,,ENST00000501194,;RP11-68L18.1,upstream_gene_variant,,ENST00000519233,;RP11-68L18.1,upstream_gene_variant,,ENST00000522132,;	792	75	99	SUCCESS
CELP	1057	.	GRCh37	9	135959859	135959859	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs768151705	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	20	0	ENST00000411440.2:n.105T>C		p.*35*	ENST00000411440				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER	.	CACTATGTGGG	NONE	.	.	.	.	.	.	.	2/5	.	.	.	.	.	.	.	.	rs768151705	2/5	PASS	ENST00000411440	Transcript	.	.	ENSG00000170827	1849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CELP	HGNC	.	.	.	SNV	CELP,non_coding_transcript_exon_variant,,ENST00000411440,;CELP,non_coding_transcript_exon_variant,,ENST00000421286,;	105	20	14	SUCCESS
PTAR1	375743	.	GRCh37	9	72374805	72374805	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	151	0	ENST00000340434.4:c.50A>G	p.Lys17Arg	p.K17R	ENST00000340434	NM_001099666.1	17	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS47978.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTTCACA	NONE	.	.	.	.	.	ENSP00000344299	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000340434	Transcript	.	.	ENSG00000188647	30449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.13)	.	PTAR1_HUMAN	PTAR1	HGNC	.	.	UPI00001D75C1	SNV	PTAR1,missense_variant,p.Lys17Arg,ENST00000340434,;PTAR1,missense_variant,p.Lys17Arg,ENST00000472967,;PTAR1,missense_variant,p.Lys17Arg,ENST00000377200,;PTAR1,non_coding_transcript_exon_variant,,ENST00000474925,;	54	151	83	SUCCESS
PCSK5	5125	.	GRCh37	9	78947474	78947474	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs140709872	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	116	0	ENST00000545128.1:c.4615C>T	p.Arg1539Ter	p.R1539*	ENST00000545128	NM_001190482.1	1539	Cga/Tga	0	.	T:0	.	T:0	.	T	R/*	protein_coding	YES	CCDS55320.1	4615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCGACCG	NONE	by1000G	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,Gene3D:2.10.220.10,SMART_domains:SM00261,SMART_domains:SM00181,Superfamily_domains:SSF57184	T:0.001	.	ENSP00000446280	T:0	33/37	.	.	.	.	.	.	.	.	rs140709872	33/37	PASS	ENST00000545128	Transcript	.	T:0.0002	ENSG00000099139	8747	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,stop_gained,p.Arg1239Ter,ENST00000424854,;PCSK5,stop_gained,p.Arg1539Ter,ENST00000545128,;	5153	116	86	SUCCESS
FGF13	2258	.	GRCh37	X	137793148	137793148	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	52	0	ENST00000315930.6:c.18C>T	p.Ala6=	p.A6=	ENST00000315930	NM_004114.3	6	gcC/gcT	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55513.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGGCGAT	NONE	.	.	.	.	.	ENSP00000359635	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370603	Transcript	.	.	ENSG00000129682	3670	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF13_HUMAN	FGF13	HGNC	Q9Y643_HUMAN,B1B1H9_HUMAN,B1AK17_HUMAN	.	UPI00001484B4	SNV	FGF13,synonymous_variant,p.%3D,ENST00000315930,;FGF13,intron_variant,,ENST00000441825,;FGF13,intron_variant,,ENST00000541469,;FGF13,intron_variant,,ENST00000436198,;FGF13,intron_variant,,ENST00000370603,;FGF13,intron_variant,,ENST00000455663,;FGF13,intron_variant,,ENST00000305414,;FGF13,intron_variant,,ENST00000448673,;FGF13-AS1,upstream_gene_variant,,ENST00000438238,;FGF13-AS1,upstream_gene_variant,,ENST00000446383,;	.	52	14	SUCCESS
ATP2B3	492	.	GRCh37	X	152814216	152814216	+	synonymous_variant	Silent	SNP	C	C	T	rs782268485	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	54	0	ENST00000263519.4:c.1242C>T	p.Phe414=	p.F414=	ENST00000263519	NM_001001344.2	414	ttC/ttT	0	.	T:0	.	T:0	.	T	F	protein_coding	YES	CCDS35440.1	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCGTGAA	NONE	byCluster|by1000G	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00122,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24093:SF265,hmmpanther:PTHR24093	T:0	.	ENSP00000263519	T:0	8/20	.	.	.	.	.	.	.	.	rs782268485	8/20	PASS	ENST00000263519	Transcript	.	T:0.0003	ENSG00000067842	816	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,synonymous_variant,p.%3D,ENST00000393842,;ATP2B3,synonymous_variant,p.%3D,ENST00000359149,;ATP2B3,synonymous_variant,p.%3D,ENST00000263519,;ATP2B3,synonymous_variant,p.%3D,ENST00000370181,;ATP2B3,synonymous_variant,p.%3D,ENST00000370186,;ATP2B3,synonymous_variant,p.%3D,ENST00000349466,;	1368	54	29	SUCCESS
DMD	1756	.	GRCh37	X	32862919	32862919	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	25	57	0	ENST00000357033.4:c.245G>T	p.Arg82Leu	p.R82L	ENST00000357033	NM_004007.2	82	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS14233.1	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCGCAGT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47576	.	.	ENSP00000354923	.	4/79	.	.	.	.	.	.	.	.	CM051908,DMD:c.245G>C,COSM3719023,COSM3719024,COSM3719025	4/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,1,1,1	.	.	benign(0.258)	.	.	0,0,1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Arg82Leu,ENST00000357033,;DMD,missense_variant,p.Arg78Leu,ENST00000378677,;DMD,missense_variant,p.Arg74Leu,ENST00000288447,;DMD,missense_variant,p.Arg45Leu,ENST00000447523,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;snoU13,downstream_gene_variant,,ENST00000459244,;DMD,intron_variant,,ENST00000488902,;DMD,downstream_gene_variant,,ENST00000472681,;	452	57	41	SUCCESS
RP2	6102	.	GRCh37	X	46713384	46713384	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	28	109	0	ENST00000218340.3:c.576T>C	p.Asp192=	p.D192=	ENST00000218340	NM_006915.2	192	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS14270.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGCTGT	NONE	.	.	hmmpanther:PTHR15440:SF0,hmmpanther:PTHR15440,PIRSF_domain:PIRSF037947	.	.	ENSP00000218340	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000218340	Transcript	.	.	ENSG00000102218	10274	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRP2_HUMAN	RP2	HGNC	.	.	UPI000000DA35	SNV	RP2,synonymous_variant,p.%3D,ENST00000218340,;	737	109	49	SUCCESS
FAM133A	286499	.	GRCh37	X	92964868	92964868	+	synonymous_variant	Silent	SNP	A	A	G	rs758363137	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	79	0	ENST00000322139.4:c.450A>G	p.Glu150=	p.E150=	ENST00000322139	NM_001171111.1	150	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS14466.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAATCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31911:SF4,hmmpanther:PTHR31911	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	rs758363137	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,synonymous_variant,p.%3D,ENST00000355813,;FAM133A,synonymous_variant,p.%3D,ENST00000538690,;FAM133A,synonymous_variant,p.%3D,ENST00000332647,;FAM133A,synonymous_variant,p.%3D,ENST00000322139,;	1011	79	47	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4967388	4967388	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	41	184	0	ENST00000400457.2:c.1706T>C	p.Val569Ala	p.V569A	ENST00000400457	NM_032973.2	569	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS14777.1	1769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTAAGCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.693)	.	deleterious(0)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Val590Ala,ENST00000215473,;PCDH11Y,missense_variant,p.Val579Ala,ENST00000333703,;PCDH11Y,missense_variant,p.Val569Ala,ENST00000400457,;PCDH11Y,missense_variant,p.Val590Ala,ENST00000362095,;	2503	184	109	SUCCESS
CYP17A1	1586	.	GRCh37	10	104595084	104595084	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	51	0	ENST00000369887.3:c.363G>A	p.Trp121Ter	p.W121*	ENST00000369887	NM_000102.3	121	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS7541.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCAGTG	NONE	.	.	hmmpanther:PTHR24289,hmmpanther:PTHR24289:SF1,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000358903	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000369887	Transcript	1	.	ENSG00000148795	2593	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP17A_HUMAN	CYP17A1	HGNC	Q1HB44_HUMAN,C7F7K7_HUMAN	.	UPI0000128309	SNV	CYP17A1,stop_gained,p.Trp121Ter,ENST00000369887,;CYP17A1-AS1,downstream_gene_variant,,ENST00000369884,;CYP17A1,non_coding_transcript_exon_variant,,ENST00000489268,;CYP17A1,upstream_gene_variant,,ENST00000469683,;PFN1P11,downstream_gene_variant,,ENST00000445829,;	535	51	68	SUCCESS
PDCD11	22984	.	GRCh37	10	105165833	105165833	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759186339	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	105	0	ENST00000369797.3:c.656A>T	p.Lys219Ile	p.K219I	ENST00000369797	NM_014976.1	219	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS31276.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAAGCCC	NONE	.	.	PROSITE_profiles:PS50126,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,Gene3D:2.40.50.140,Pfam_domain:PF00575,SMART_domains:SM00316,Superfamily_domains:SSF50249	.	.	ENSP00000358812	.	6/36	.	.	.	.	.	.	.	.	rs759186339	6/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,missense_variant,p.Lys219Ile,ENST00000369797,;PDCD11,downstream_gene_variant,,ENST00000471061,;PDCD11,downstream_gene_variant,,ENST00000493610,;	750	105	121	SUCCESS
OBFC1	0	.	GRCh37	10	105677245	105677245	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	60	0	ENST00000224950.3:c.108C>A	p.Asp36Glu	p.D36E	ENST00000224950	NM_024928.4	36	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS7552.1	108	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGTCCAG	NONE	.	.	hmmpanther:PTHR13989:SF11,hmmpanther:PTHR13989,Gene3D:2.40.50.140,PIRSF_domain:PIRSF036950,Superfamily_domains:SSF50249	.	.	ENSP00000224950	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000224950	Transcript	1	.	ENSG00000107960	26200	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	STN1_HUMAN	OBFC1	HGNC	.	.	UPI000013C85A	SNV	OBFC1,missense_variant,p.Asp36Glu,ENST00000224950,;OBFC1,missense_variant,p.Asp36Glu,ENST00000369764,;OBFC1,non_coding_transcript_exon_variant,,ENST00000466828,;	276	60	75	SUCCESS
NRAP	4892	.	GRCh37	10	115372164	115372164	+	synonymous_variant	Silent	SNP	G	G	A	rs759338722	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	89	0	ENST00000359988.3:c.3327C>T	p.His1109=	p.H1109=	ENST00000359988	NM_001261463.1	1109	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS7579.1	3327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAGTGTTC	NONE	.	.	SMART_domains:SM00227,Pfam_domain:PF00880,hmmpanther:PTHR11039,PROSITE_profiles:PS51216	.	.	ENSP00000353078	.	30/42	.	.	.	.	.	.	.	.	rs759338722	30/42	PASS	ENST00000359988	Transcript	.	.	ENSG00000197893	7988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRAP_HUMAN	NRAP	HGNC	.	.	UPI00001F9739	SNV	NRAP,synonymous_variant,p.%3D,ENST00000369360,;NRAP,synonymous_variant,p.%3D,ENST00000369358,;NRAP,synonymous_variant,p.%3D,ENST00000360478,;NRAP,synonymous_variant,p.%3D,ENST00000359988,;	3572	89	108	SUCCESS
DMBT1	1755	.	GRCh37	10	124358530	124358530	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	22	92	0	ENST00000338354.3:c.3197A>G	p.Glu1066Gly	p.E1066G	ENST00000338354		1066	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS44490.1	3197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGAGTCTT	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	26/53	.	.	.	.	.	.	.	.	.	26/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Glu567Gly,ENST00000368956,;DMBT1,missense_variant,p.Glu567Gly,ENST00000330163,;DMBT1,missense_variant,p.Glu1056Gly,ENST00000344338,;DMBT1,missense_variant,p.Glu1056Gly,ENST00000368955,;DMBT1,missense_variant,p.Glu1066Gly,ENST00000368909,;DMBT1,missense_variant,p.Glu1066Gly,ENST00000338354,;DMBT1,intron_variant,,ENST00000359586,;	3303	92	94	SUCCESS
ADARB2	105	.	GRCh37	10	1313165	1313165	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	62	0	ENST00000381312.1:c.1177A>G	p.Ile393Val	p.I393V	ENST00000381312	NM_018702.3	393	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7058.1	1177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGATTCCTG	NONE	.	.	hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,SMART_domains:SM00552	.	.	ENSP00000370713	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.32)	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,missense_variant,p.Ile393Val,ENST00000381312,;	1503	62	68	SUCCESS
ITGA8	8516	.	GRCh37	10	15573079	15573079	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	28	180	0	ENST00000378076.3:c.2952G>A	p.Gln984=	p.Q984=	ENST00000378076	NM_003638.1	984	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS31155.1	2952	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCTGATC	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000367316	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000378076	Transcript	1	.	ENSG00000077943	6144	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,synonymous_variant,p.%3D,ENST00000378076,;	3306	180	168	SUCCESS
GAD2	2572	.	GRCh37	10	26513476	26513476	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771522366	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	27	108	0	ENST00000259271.3:c.620A>T	p.Tyr207Phe	p.Y207F	ENST00000259271	NM_000818.2	207	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS7149.1	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTATGAAA	NONE	.	.	hmmpanther:PTHR11999:SF77,hmmpanther:PTHR11999,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000365437	.	6/16	.	.	.	.	.	.	.	.	rs771522366,COSM1745760	6/16	PASS	ENST00000376261	Transcript	.	.	ENSG00000136750	4093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.665)	.	deleterious(0.04)	0,1	DCE2_HUMAN	GAD2	HGNC	Q9UGI5_HUMAN,Q5VZ30_HUMAN	.	UPI0000033835	SNV	GAD2,missense_variant,p.Tyr207Phe,ENST00000259271,;GAD2,missense_variant,p.Tyr207Phe,ENST00000376261,;GAD2,missense_variant,p.Tyr93Phe,ENST00000376248,;	1123	108	136	SUCCESS
AKR1CL1	0	.	GRCh37	10	5204951	5204951	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs782625199	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	71	0	ENST00000488756.1:c.126A>C	p.Lys42Asn	p.K42N	ENST00000488756		42	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	.	126	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACTTTGGT	NONE	.	.	hmmpanther:PTHR11732:SF166,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430	.	.	ENSP00000417935	.	2/4	.	.	.	.	.	.	.	.	rs782625199	2/4	PASS	ENST00000488756	Transcript	.	.	ENSG00000196326	23469	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.876)	.	deleterious(0.03)	.	.	AKR1CL1	HGNC	C9J5T8_HUMAN	.	UPI0001B790F0	SNV	AKR1CL1,missense_variant,p.Lys42Asn,ENST00000334314,;AKR1CL1,missense_variant,p.Lys42Asn,ENST00000488756,;AKR1CL1,upstream_gene_variant,,ENST00000473890,;AKR1CL1,non_coding_transcript_exon_variant,,ENST00000472691,;AKR1CL1,upstream_gene_variant,,ENST00000465430,;	155	71	69	SUCCESS
ASB13	79754	.	GRCh37	10	5683744	5683744	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	57	0	ENST00000357700.6:c.698A>G	p.Glu233Gly	p.E233G	ENST00000357700	NM_024701.3	233	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS7070.1	698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACTCGAAG	NONE	.	.	hmmpanther:PTHR24196	.	.	ENSP00000350331	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000357700	Transcript	.	.	ENSG00000196372	19765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.37)	.	ASB13_HUMAN	ASB13	HGNC	.	.	UPI00001260DE	SNV	ASB13,missense_variant,p.Glu233Gly,ENST00000357700,;ASB13,non_coding_transcript_exon_variant,,ENST00000493897,;ASB13,non_coding_transcript_exon_variant,,ENST00000479033,;ASB13,3_prime_UTR_variant,,ENST00000459912,;	725	57	76	SUCCESS
CCDC6	8030	.	GRCh37	10	61566806	61566806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	60	0	ENST00000263102.6:c.878A>T	p.Glu293Val	p.E293V	ENST00000263102	NM_005436.4	293	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7257.1	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTCCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15276:SF0,hmmpanther:PTHR15276,Pfam_domain:PF09755	.	.	ENSP00000263102	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000263102	Transcript	1	.	ENSG00000108091	18782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CCDC6_HUMAN	CCDC6	HGNC	.	.	UPI000035B25A	SNV	CCDC6,missense_variant,p.Glu293Val,ENST00000263102,;CCDC6,non_coding_transcript_exon_variant,,ENST00000518638,;CCDC6,upstream_gene_variant,,ENST00000491922,;	1110	60	62	SUCCESS
SIK2	23235	.	GRCh37	11	111591216	111591239	+	frameshift_variant	Frame_Shift_Del	DEL	ATGAATGACAGCCCCTCCCTTGAC	ATGAATGACAGCCCCTCCCTTGAC	CTTTA	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	ATGAATGACAGCCCCTCCCTTGAC	ATGAATGACAGCCCCTCCCTTGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	105	0	ENST00000304987.3:c.1510_1533delinsCTTTA	p.Met504LeufsTer2	p.M504Lfs*2	ENST00000304987	NM_015191.1	504	ATGAATGACAGCCCCTCCCTTGAC/CTTTA	0	.	.	.	.	.	CTTTA	MNDSPSLD/LX	protein_coding	YES	CCDS8347.1	1510-1533	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTCCATGAATGACAGCCCCTCCCTTGACAGTGT	NONE	.	.	hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	substitution	SIK2,frameshift_variant,p.Met504LeufsTer2,ENST00000304987,;SIK2,non_coding_transcript_exon_variant,,ENST00000533868,;	1683-1706	105	64	SUCCESS
SIK2	23235	.	GRCh37	11	111591237	111591237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	99	0	ENST00000304987.3:c.1531G>T	p.Asp511Tyr	p.D511Y	ENST00000304987	NM_015191.1	511	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8347.1	1531	SOMATICSNIPER|VARSCANS	.	CCCTTGACAGT	NONE	.	.	hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.305)	.	deleterious(0)	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	SNV	SIK2,missense_variant,p.Asp511Tyr,ENST00000304987,;SIK2,non_coding_transcript_exon_variant,,ENST00000533868,;	1704	99	53	SUCCESS
SIK2	23235	.	GRCh37	11	111591239	111591239	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	98	0	ENST00000304987.3:c.1533del	p.Asp511GlufsTer16	p.D511Efs*16	ENST00000304987	NM_015191.1	511	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS8347.1	1533	INDELOCATOR|VARSCANI	.	CCTTGACAGTGT	NONE	.	.	hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	deletion	SIK2,frameshift_variant,p.Asp511GlufsTer16,ENST00000304987,;SIK2,non_coding_transcript_exon_variant,,ENST00000533868,;	1706	98	53	SUCCESS
PCSK7	9159	.	GRCh37	11	117100406	117100406	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760741031	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	105	0	ENST00000320934.3:c.155C>T	p.Pro52Leu	p.P52L	ENST00000320934	NM_004716.2	52	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8382.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCGGCCCC	NONE	.	.	hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795	.	.	ENSP00000325917	.	3/17	.	.	.	.	.	.	.	.	rs760741031,COSM1676454	3/17	PASS	ENST00000320934	Transcript	.	.	ENSG00000160613	8748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated(0.53)	0,1	PCSK7_HUMAN	PCSK7	HGNC	E9PMC0_HUMAN,E9PLM0_HUMAN,E9PIW7_HUMAN,B3KUH2_HUMAN	.	UPI0000070E4E	SNV	PCSK7,missense_variant,p.Pro52Leu,ENST00000532301,;PCSK7,missense_variant,p.Pro52Leu,ENST00000320934,;PCSK7,missense_variant,p.Pro52Leu,ENST00000525027,;PCSK7,missense_variant,p.Pro52Leu,ENST00000524507,;PCSK7,missense_variant,p.Pro52Leu,ENST00000530269,;RNF214,upstream_gene_variant,,ENST00000534428,;RNF214,upstream_gene_variant,,ENST00000531452,;RNF214,upstream_gene_variant,,ENST00000300650,;RNF214,upstream_gene_variant,,ENST00000531287,;RNF214,upstream_gene_variant,,ENST00000530849,;PCSK7,upstream_gene_variant,,ENST00000534529,;RNF214,upstream_gene_variant,,ENST00000529869,;	786	106	102	SUCCESS
OR6M1	390261	.	GRCh37	11	123676433	123676433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	79	0	ENST00000309154.2:c.625G>T	p.Ala209Ser	p.A209S	ENST00000309154	NM_001005325.1	209	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31696.1	625	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCCAGGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000311038	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309154	Transcript	.	.	ENSG00000196099	14711	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.53)	.	OR6M1_HUMAN	OR6M1	HGNC	.	.	UPI000003FE18	SNV	OR6M1,missense_variant,p.Ala209Ser,ENST00000309154,;	663	79	62	SUCCESS
OR8G5	219865	.	GRCh37	11	124135129	124135129	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	47	0	ENST00000524943.2:c.407T>C	p.Leu136Pro	p.L136P	ENST00000524943	NM_001005198.1	136	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS66256.1	407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTCTACT	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF73,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000477014	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000524943	Transcript	.	.	ENSG00000255298	19622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR8G5_HUMAN	OR8G5	HGNC	B2RND3_HUMAN	.	UPI00003B286B	SNV	OR8G5,missense_variant,p.Leu136Pro,ENST00000524943,;OR8G1,intron_variant,,ENST00000341493,;	407	47	47	SUCCESS
PKNOX2	63876	.	GRCh37	11	125281718	125281718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	96	0	ENST00000298282.9:c.893A>T	p.His298Leu	p.H298L	ENST00000298282	NM_022062.2	298	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS41730.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCATGCCA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000298282	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000298282	Transcript	.	.	ENSG00000165495	16714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	tolerated(0.12)	.	PKNX2_HUMAN	PKNOX2	HGNC	H0YLX0_HUMAN,E9PRB6_HUMAN,E9PKL2_HUMAN,B7ZAF3_HUMAN	.	UPI000023271E	SNV	PKNOX2,missense_variant,p.His298Leu,ENST00000298282,;PKNOX2,missense_variant,p.His234Leu,ENST00000542175,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,3_prime_UTR_variant,,ENST00000532623,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000526955,;	1164	96	78	SUCCESS
MUC5B	727897	.	GRCh37	11	1271184	1271184	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	115	0	ENST00000529681.1:c.13074G>A	p.Glu4358=	p.E4358=	ENST00000529681	NM_002458.2	4358	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS44515.2	13074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGAGACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	13132	115	61	SUCCESS
SOX6	55553	.	GRCh37	11	16077382	16077382	+	synonymous_variant	Silent	SNP	T	T	C	rs774229287	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	63	0	ENST00000528429.1:c.1167A>G	p.Pro389=	p.P389=	ENST00000528429	NM_001145819.1	389	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7821.1	1167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTGGAGT	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89	.	.	ENSP00000379644	.	10/16	.	.	.	.	.	.	.	.	rs774229287	10/16	PASS	ENST00000396356	Transcript	.	.	ENSG00000110693	16421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX6_HUMAN	SOX6	HGNC	E9PQL4_HUMAN,E9PQ67_HUMAN,E9PN02_HUMAN	.	UPI00001F9DE4	SNV	SOX6,synonymous_variant,p.%3D,ENST00000527619,;SOX6,synonymous_variant,p.%3D,ENST00000528429,;SOX6,synonymous_variant,p.%3D,ENST00000352083,;SOX6,synonymous_variant,p.%3D,ENST00000528252,;SOX6,synonymous_variant,p.%3D,ENST00000396356,;SOX6,synonymous_variant,p.%3D,ENST00000316399,;SOX6,non_coding_transcript_exon_variant,,ENST00000524650,;	1245	63	27	SUCCESS
OR51B4	79339	.	GRCh37	11	5323008	5323008	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758320996	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	195	0	ENST00000380224.1:c.169A>G	p.Met57Val	p.M57V	ENST00000380224	NM_033179.2	57	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS7757.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACATGGGCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF28,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000369573	.	1/1	.	.	.	.	.	.	.	.	rs758320996	1/1	PASS	ENST00000380224	Transcript	.	.	ENSG00000183251	14708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	O51B4_HUMAN	OR51B4	HGNC	A4FU14_HUMAN	.	UPI0000041B31	SNV	OR51B4,missense_variant,p.Met57Val,ENST00000380224,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,downstream_gene_variant,,ENST00000420465,;	219	196	104	SUCCESS
OR5T2	219464	.	GRCh37	11	55999752	55999752	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	105	0	ENST00000313264.4:c.910A>T	p.Ser304Cys	p.S304C	ENST00000313264	NM_001004746.1	304	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31523.1	910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCTGGAAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,missense_variant,p.Ser304Cys,ENST00000313264,;	986	105	93	SUCCESS
OR8K1	390157	.	GRCh37	11	56114330	56114330	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	15	95	0	ENST00000279783.2:c.816T>C	p.His272=	p.H272=	ENST00000279783	NM_001002907.1	272	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS31528.1	816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCATACTTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,synonymous_variant,p.%3D,ENST00000279783,;	910	95	78	SUCCESS
OR8U1	219417	.	GRCh37	11	56143186	56143186	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	64	0	ENST00000302270.1:c.87G>A	p.Val29=	p.V29=	ENST00000302270	NM_001005204.1	29	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS41647.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTGCTATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF107,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304188	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302270	Transcript	.	.	ENSG00000172199	19611	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8U1_HUMAN	OR8U1	HGNC	.	.	UPI0000061EEF	SNV	OR8U1,synonymous_variant,p.%3D,ENST00000302270,;	87	64	68	SUCCESS
PRG3	10394	.	GRCh37	11	57148168	57148168	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs144542413	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	112	0	ENST00000287143.2:c.14T>A	p.Leu5Ter	p.L5*	ENST00000287143	NM_006093.3	5	tTg/tAg	0	T:0.0007	.	.	.	.	T	L/*	protein_coding	YES	CCDS7954.1	14	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCAAGAGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Prints_domain:PR00770,hmmpanther:PTHR10068:SF8,hmmpanther:PTHR10068	.	T:0	ENSP00000287143	.	2/6	.	.	.	.	.	.	.	.	rs144542413	2/6	PASS	ENST00000287143	Transcript	.	.	ENSG00000156575	9363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRG3_HUMAN	PRG3	HGNC	.	.	UPI000013DE94	SNV	PRG3,stop_gained,p.Leu5Ter,ENST00000287143,;	124	112	113	SUCCESS
OR9Q1	219956	.	GRCh37	11	57946997	57946997	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	88	0	ENST00000335397.3:c.81C>T	p.Leu27=	p.L27=	ENST00000335397	NM_001005212.3	27	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31543.1	81	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCTTCCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF276,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000334934	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000335397	Transcript	.	.	ENSG00000186509	14724	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR9Q1_HUMAN	OR9Q1	HGNC	.	.	UPI0000041B48	SNV	OR9Q1,synonymous_variant,p.%3D,ENST00000335397,;	397	88	62	SUCCESS
TMEM132A	54972	.	GRCh37	11	60704345	60704345	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373138456	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	41	0	ENST00000453848.2:c.3038G>A	p.Arg1013His	p.R1013H	ENST00000453848		1013	cGc/cAc	0	A:0.0005	.	.	.	.	A	R/H	protein_coding	YES	CCDS7997.1	3041	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTTCGCAACT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388	.	A:0	ENSP00000005286	.	11/11	.	.	.	.	.	.	.	.	rs373138456,COSM4034511,COSM4034512	11/11	PASS	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	possibly_damaging(0.907)	.	tolerated(0.14)	0,1,1	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,missense_variant,p.Arg1014His,ENST00000005286,;TMEM132A,missense_variant,p.Arg1013His,ENST00000453848,;TMEM132A,3_prime_UTR_variant,,ENST00000535480,;TMEM132A,3_prime_UTR_variant,,ENST00000540112,;SLC15A3,downstream_gene_variant,,ENST00000227880,;TMEM132A,downstream_gene_variant,,ENST00000536409,;SLC15A3,downstream_gene_variant,,ENST00000537307,;SLC15A3,downstream_gene_variant,,ENST00000536784,;SLC15A3,downstream_gene_variant,,ENST00000536491,;TMEM132A,downstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000536928,;TMEM132A,downstream_gene_variant,,ENST00000538090,;TMEM132A,downstream_gene_variant,,ENST00000544098,;SLC15A3,downstream_gene_variant,,ENST00000544101,;SLC15A3,downstream_gene_variant,,ENST00000543406,;SLC15A3,downstream_gene_variant,,ENST00000541505,;TMEM132A,downstream_gene_variant,,ENST00000534983,;	3194	42	43	SUCCESS
SPTBN2	6712	.	GRCh37	11	66483396	66483396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	76	0	ENST00000309996.2:c.214G>T	p.Ala72Ser	p.A72S	ENST00000309996	NM_006946.2	72	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8150.1	214	MUTECT|MUSE	.	CCGGGCCAGGT	NONE	.	.	Superfamily_domains:SSF47576,PIRSF_domain:PIRSF002297,SMART_domains:SM00033,Gene3D:1.10.418.10,Pfam_domain:PF00307,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205,PROSITE_profiles:PS50021	.	.	ENSP00000432568	.	4/38	.	.	.	.	.	.	.	.	.	4/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.372)	.	tolerated(0.27)	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Ala72Ser,ENST00000533211,;SPTBN2,missense_variant,p.Ala72Ser,ENST00000527010,;SPTBN2,missense_variant,p.Ala72Ser,ENST00000309996,;SPTBN2,missense_variant,p.Ala72Ser,ENST00000529997,;RN7SL12P,upstream_gene_variant,,ENST00000473849,;	546	76	75	SUCCESS
CABP4	57010	.	GRCh37	11	67222916	67222916	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	62	0	ENST00000325656.5:c.22G>A	p.Gly8Arg	p.G8R	ENST00000325656	NM_145200.3	8	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS8166.1	22	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGGGGCAG	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF129	.	.	ENSP00000324960	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000325656	Transcript	.	.	ENSG00000175544	1386	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.459)	.	deleterious_low_confidence(0)	.	CABP4_HUMAN	CABP4	HGNC	.	.	UPI0000126D68	SNV	CABP4,missense_variant,p.Gly8Arg,ENST00000325656,;CABP4,intron_variant,,ENST00000438189,;GPR152,upstream_gene_variant,,ENST00000312457,;CTC-1337H24.1,upstream_gene_variant,,ENST00000602912,;CABP4,non_coding_transcript_exon_variant,,ENST00000542025,;CABP4,non_coding_transcript_exon_variant,,ENST00000538060,;CABP4,downstream_gene_variant,,ENST00000542233,;CABP4,missense_variant,p.Gly8Arg,ENST00000545777,;CABP4,downstream_gene_variant,,ENST00000545040,;	99	62	43	SUCCESS
CCND1	595	.	GRCh37	11	69462801	69462801	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1271260640	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	49	0	ENST00000227507.2:c.614C>T	p.Ala205Val	p.A205V	ENST00000227507	NM_053056.2	205	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8191.1	614	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGGGGA	NONE	.	.	Superfamily_domains:SSF47954,PIRSF_domain:PIRSF001771,Pfam_domain:PF02984,Gene3D:1.10.472.10,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF67,Low_complexity_(Seg):seg	.	.	ENSP00000227507	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000227507	Transcript	.	.	ENSG00000110092	1582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	CCND1_HUMAN	CCND1	HGNC	Q9H014_HUMAN,Q6FI00_HUMAN,Q5MGB2_HUMAN	.	UPI0000001285	SNV	CCND1,missense_variant,p.Ala205Val,ENST00000227507,;CCND1,3_prime_UTR_variant,,ENST00000536559,;CCND1,non_coding_transcript_exon_variant,,ENST00000542367,;CCND1,non_coding_transcript_exon_variant,,ENST00000545484,;CCND1,downstream_gene_variant,,ENST00000535993,;CCND1,downstream_gene_variant,,ENST00000539241,;	841	49	39	SUCCESS
WNT11	7481	.	GRCh37	11	75905679	75905679	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	84	0	ENST00000322563.3:c.529A>T	p.Lys177Ter	p.K177*	ENST00000322563	NM_004626.2	177	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS8242.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTCATAG	NONE	.	.	hmmpanther:PTHR12027:SF7,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000325526	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000322563	Transcript	.	.	ENSG00000085741	12776	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT11_HUMAN	WNT11	HGNC	.	.	UPI000003148D	SNV	WNT11,stop_gained,p.Lys177Ter,ENST00000322563,;RP11-619A14.2,splice_region_variant,,ENST00000527314,;	654	84	85	SUCCESS
TENM4	26011	.	GRCh37	11	78614317	78614317	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	97	0	ENST00000278550.7:c.745A>C	p.Thr249Pro	p.T249P	ENST00000278550	NM_001098816.2	249	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS44688.1	745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTCTCCA	NONE	.	.	Pfam_domain:PF06484,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219,PROSITE_profiles:PS51361	.	.	ENSP00000278550	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	deleterious_low_confidence(0)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Thr249Pro,ENST00000278550,;TENM4,missense_variant,p.Thr94Pro,ENST00000533074,;TENM4,non_coding_transcript_exon_variant,,ENST00000533013,;	1208	97	90	SUCCESS
MIR708	100126333	.	GRCh37	11	79113092	79113092	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	46	0	ENST00000390708.1:n.62A>G		p.*21*	ENST00000390708				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTAGTTG	NONE	.	.	.	.	.	ENSP00000278550	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODIFIER	1/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,intron_variant,,ENST00000278550,;MIR708,non_coding_transcript_exon_variant,,ENST00000390708,;TENM4,intron_variant,,ENST00000531583,;TENM4,intron_variant,,ENST00000528688,;	.	46	46	SUCCESS
MAML2	84441	.	GRCh37	11	95712390	95712391	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	61	0	ENST00000524717.1:c.3192_3193del	p.Gln1064HisfsTer37	p.Q1064Hfs*37	ENST00000524717	NM_032427.1	1064	caGTca/caca	0	.	.	.	.	.	-	QS/HX	protein_coding	YES	CCDS44714.1	3192-3193	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTGACTGATT	NONE	.	.	hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9	.	.	ENSP00000434552	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	deletion	MAML2,frameshift_variant,p.Gln1064HisfsTer37,ENST00000524717,;	4477-4478	61	79	SUCCESS
UTP20	27340	.	GRCh37	12	101764273	101764273	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	64	0	ENST00000261637.4:c.6619C>G	p.Leu2207Val	p.L2207V	ENST00000261637	NM_014503.2	2207	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS9081.1	6619	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCTACTG	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	50/62	.	.	.	.	.	.	.	.	.	50/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Leu2207Val,ENST00000261637,;	6793	64	79	SUCCESS
FOXN4	121643	.	GRCh37	12	109719553	109719553	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	43	0	ENST00000299162.5:c.953G>A	p.Gly318Asp	p.G318D	ENST00000299162	NM_213596.2	318	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9126.2	953	MUTECT|MUSE	.	GTTTGCCGGGG	NONE	.	.	hmmpanther:PTHR13962:SF8,hmmpanther:PTHR13962	.	.	ENSP00000299162	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000299162	Transcript	.	.	ENSG00000139445	21399	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.157)	.	tolerated(0.05)	.	FOXN4_HUMAN	FOXN4	HGNC	.	.	UPI0000551BEE	SNV	FOXN4,missense_variant,p.Gly138Asp,ENST00000355216,;FOXN4,missense_variant,p.Gly318Asp,ENST00000299162,;FOXN4,intron_variant,,ENST00000468516,;FOXN4,3_prime_UTR_variant,,ENST00000423960,;	1058	43	43	SUCCESS
NOS1	4842	.	GRCh37	12	117768235	117768235	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	39	0	ENST00000317775.6:c.640A>G	p.Ser214Gly	p.S214G	ENST00000317775	NM_000620.4	214	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS55890.1	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTCAGCA	NONE	.	.	PIRSF_domain:PIRSF000333	.	.	ENSP00000337459	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.45)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Ser214Gly,ENST00000344089,;NOS1,missense_variant,p.Ser214Gly,ENST00000317775,;NOS1,missense_variant,p.Ser214Gly,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;	645	39	59	SUCCESS
IFLTD1	0	.	GRCh37	12	25656736	25656736	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	52	1	ENST00000282881.6:c.1127-2A>T		p.X376_splice	ENST00000282881	NM_152590.3	376		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44849.1	.	MUTECT|MUSE	.	GACCCTGAAAA	NONE	.	.	.	.	.	ENSP00000407353	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458174	Transcript	.	.	ENSG00000152936	26683	.	.	HIGH	8/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ILFT1_HUMAN	IFLTD1	HGNC	H0YFE3_HUMAN,F5H8G2_HUMAN,F5H719_HUMAN,F5H5I3_HUMAN,F5H3Q3_HUMAN	.	UPI0000E004B3	SNV	IFLTD1,splice_acceptor_variant,,ENST00000282881,;IFLTD1,splice_acceptor_variant,,ENST00000539744,;IFLTD1,splice_acceptor_variant,,ENST00000539523,;IFLTD1,splice_acceptor_variant,,ENST00000458174,;IFLTD1,splice_acceptor_variant,,ENST00000413632,;IFLTD1,splice_acceptor_variant,,ENST00000445693,;IFLTD1,splice_acceptor_variant,,ENST00000543629,;	.	53	50	SUCCESS
PKP2	5318	.	GRCh37	12	33030888	33030888	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1274616448	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	44	0	ENST00000070846.6:c.926C>T	p.Ala309Val	p.A309V	ENST00000070846	NM_004572.3	309	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8731.1	926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGGCGACA	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25	.	.	ENSP00000070846	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000070846	Transcript	.	.	ENSG00000057294	9024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.16)	.	PKP2_HUMAN	PKP2	HGNC	.	.	UPI000013C576	SNV	PKP2,missense_variant,p.Ala309Val,ENST00000340811,;PKP2,missense_variant,p.Ala309Val,ENST00000070846,;	951	44	30	SUCCESS
KIF21A	55605	.	GRCh37	12	39756972	39756972	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	61	0	ENST00000361418.5:c.947A>T	p.Lys316Met	p.K316M	ENST00000361418		316	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS53776.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTTGCTC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000354878	.	7/38	.	.	.	.	.	.	.	.	.	7/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,missense_variant,p.Lys316Met,ENST00000541463,;KIF21A,missense_variant,p.Lys139Met,ENST00000552908,;KIF21A,missense_variant,p.Lys316Met,ENST00000361961,;KIF21A,missense_variant,p.Lys316Met,ENST00000361418,;KIF21A,missense_variant,p.Lys316Met,ENST00000544797,;KIF21A,missense_variant,p.Lys316Met,ENST00000395670,;	963	61	75	SUCCESS
KRT80	144501	.	GRCh37	12	52585770	52585770	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	24	0	ENST00000394815.2:c.-84G>A		p.*28*	ENST00000394815	NM_182507.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8821.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTCTGGTC	NONE	.	.	.	.	.	ENSP00000378292	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000394815	Transcript	.	.	ENSG00000167767	27056	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C80_HUMAN	KRT80	HGNC	.	.	UPI0000160118	SNV	KRT80,5_prime_UTR_variant,,ENST00000313234,;KRT80,5_prime_UTR_variant,,ENST00000394815,;	15	24	23	SUCCESS
PPM1H	57460	.	GRCh37	12	63328293	63328293	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	101	0	ENST00000228705.6:c.224C>G	p.Pro75Arg	p.P75R	ENST00000228705	NM_020700.1	75	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS44934.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGGCAGC	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000228705	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000228705	Transcript	.	.	ENSG00000111110	18583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,missense_variant,p.Pro75Arg,ENST00000228705,;Y_RNA,upstream_gene_variant,,ENST00000516851,;PPM1H,upstream_gene_variant,,ENST00000548414,;	525	101	74	SUCCESS
MCF2L	23263	.	GRCh37	13	113719388	113719388	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754386722	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	59	0	ENST00000375608.3:c.835G>A	p.Asp279Asn	p.D279N	ENST00000375608		279	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS45070.2	745	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGACAAG	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115	.	.	ENSP00000440374	.	7/30	.	.	.	.	.	.	.	.	rs754386722	7/30	PASS	ENST00000535094	Transcript	.	.	ENSG00000126217	14576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	tolerated(0.55)	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,missense_variant,p.Asp255Asn,ENST00000434480,;MCF2L,missense_variant,p.Asp247Asn,ENST00000423482,;MCF2L,missense_variant,p.Asp279Asn,ENST00000442652,;MCF2L,missense_variant,p.Asp169Asn,ENST00000423251,;MCF2L,missense_variant,p.Asp247Asn,ENST00000375597,;MCF2L,missense_variant,p.Asp282Asn,ENST00000397030,;MCF2L,missense_variant,p.Asp253Asn,ENST00000375601,;MCF2L,missense_variant,p.Asp279Asn,ENST00000375608,;MCF2L,missense_variant,p.Asp249Asn,ENST00000535094,;MCF2L,missense_variant,p.Asp253Asn,ENST00000421756,;MCF2L,missense_variant,p.Asp306Asn,ENST00000375604,;MCF2L,downstream_gene_variant,,ENST00000409954,;MCF2L,non_coding_transcript_exon_variant,,ENST00000475524,;MCF2L,non_coding_transcript_exon_variant,,ENST00000464800,;	904	59	50	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049724	36049724	+	synonymous_variant	Silent	SNP	A	A	T	rs781359364	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	64	0	ENST00000379919.4:c.552T>A	p.Ala184=	p.A184=	ENST00000379919	NM_005584.4	184	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9353.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCAGCACT	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	rs781359364	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,synonymous_variant,p.%3D,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1109	64	46	SUCCESS
DCLK1	9201	.	GRCh37	13	36385016	36385016	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	75	0	ENST00000360631.3:c.1644T>C	p.Cys548=	p.C548=	ENST00000360631		548	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS9354.1	1644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCACAGAC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	.	.	ENSP00000255448	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,synonymous_variant,p.%3D,ENST00000360631,;DCLK1,synonymous_variant,p.%3D,ENST00000379893,;DCLK1,synonymous_variant,p.%3D,ENST00000255448,;DCLK1,upstream_gene_variant,,ENST00000486239,;	1856	75	62	SUCCESS
ZC3H13	23091	.	GRCh37	13	46542149	46542149	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	71	0	ENST00000242848.4:c.3811A>T	p.Arg1271Ter	p.R1271*	ENST00000242848		1271	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS9400.1	3811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTTGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13585:SF2,hmmpanther:PTHR13585	.	.	ENSP00000282007	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000282007	Transcript	.	.	ENSG00000123200	20368	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3HD_HUMAN	ZC3H13	HGNC	.	.	UPI0000366969	SNV	ZC3H13,stop_gained,p.Arg1271Ter,ENST00000242848,;ZC3H13,stop_gained,p.Arg1271Ter,ENST00000282007,;ZC3H13,stop_gained,p.Arg227Ter,ENST00000378921,;	3882	71	53	SUCCESS
HTR2A	3356	.	GRCh37	13	47470085	47470085	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	33	0	ENST00000378688.4:c.-44G>T		p.*15*	ENST00000378688				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9405.1	.	MUTECT|MUSE	.	ACTAACAGGTT	NONE	.	.	.	.	.	ENSP00000367959	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000378688	Transcript	.	.	ENSG00000102468	5293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	5HT2A_HUMAN	HTR2A	HGNC	Q9P2Q9_HUMAN,B3VRC0_HUMAN,B3VRB5_HUMAN,B3VRB0_HUMAN	.	UPI000000126E	SNV	HTR2A,5_prime_UTR_variant,,ENST00000378688,;HTR2A,5_prime_UTR_variant,,ENST00000542664,;HTR2A,intron_variant,,ENST00000543956,;	89	33	31	SUCCESS
GPR183	1880	.	GRCh37	13	99947374	99947374	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	118	1	ENST00000376414.4:c.1026T>C	p.Asn342=	p.N342=	ENST00000376414	NM_004951.4	342	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS9492.1	1026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGAATTTTC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24237:SF7,hmmpanther:PTHR24237	.	.	ENSP00000365596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376414	Transcript	.	.	ENSG00000169508	3128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP183_HUMAN	GPR183	HGNC	.	.	UPI0000001068	SNV	GPR183,synonymous_variant,p.%3D,ENST00000376414,;UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000473091,;UBAC2,intron_variant,,ENST00000468067,;	1110	119	87	SUCCESS
PNN	5411	.	GRCh37	14	39650465	39650470	+	inframe_deletion	In_Frame_Del	DEL	CAGGAG	CAGGAG	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	CAGGAG	CAGGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	107	0	ENST00000216832.4:c.1554_1559del	p.Glu519_Gln520del	p.E519_Q520del	ENST00000216832	NM_002687.3	518	CAGGAG/-	0	.	.	.	.	.	-	QE/-	protein_coding	YES	CCDS9671.1	1552-1557	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTACTCAGGAGCAAGG	NONE	.	.	hmmpanther:PTHR12707	.	.	ENSP00000216832	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000216832	Transcript	.	.	ENSG00000100941	9162	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PININ_HUMAN	PNN	HGNC	.	.	UPI000013C70D	deletion	PNN,inframe_deletion,p.Glu519_Gln520del,ENST00000216832,;PNN,downstream_gene_variant,,ENST00000553331,;PNN,downstream_gene_variant,,ENST00000556530,;PNN,intron_variant,,ENST00000557680,;PNN,downstream_gene_variant,,ENST00000554117,;PNN,downstream_gene_variant,,ENST00000554902,;	1619-1624	107	101	SUCCESS
SAMD4A	23034	.	GRCh37	14	55215638	55215638	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	76	0	ENST00000392067.3:c.1085C>G	p.Ala362Gly	p.A362G	ENST00000392067	NM_015589.5	362	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS32084.2	1085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGCAGG	NONE	.	.	hmmpanther:PTHR12515,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000375919	.	4/12	.	.	.	.	.	.	.	.	COSM956314	4/12	PASS	ENST00000392067	Transcript	.	.	ENSG00000020577	23023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.891)	.	deleterious(0.01)	1	SMAG1_HUMAN	SAMD4A	HGNC	J3QSW1_HUMAN	.	UPI0000229786	SNV	SAMD4A,missense_variant,p.Ala361Gly,ENST00000357634,;SAMD4A,missense_variant,p.Ala362Gly,ENST00000554335,;SAMD4A,missense_variant,p.Ala362Gly,ENST00000392067,;SAMD4A,missense_variant,p.Ala274Gly,ENST00000251091,;	1085	77	60	SUCCESS
SPTB	6710	.	GRCh37	14	65220494	65220494	+	synonymous_variant	Silent	SNP	C	C	T	rs755875675	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	39	0	ENST00000389722.3:c.6363G>A	p.Thr2121=	p.T2121=	ENST00000389722	NM_001024858.2	2121	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32099.1	6363	MUTECT|MUSE	.	GGCCACGTTCC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,SMART_domains:SM00150,PIRSF_domain:PIRSF002297	.	.	ENSP00000374372	.	32/35	.	.	.	.	.	.	.	.	rs755875675	32/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,synonymous_variant,p.%3D,ENST00000556626,;SPTB,synonymous_variant,p.%3D,ENST00000553938,;SPTB,synonymous_variant,p.%3D,ENST00000389722,;SPTB,non_coding_transcript_exon_variant,,ENST00000342835,;SPTB,non_coding_transcript_exon_variant,,ENST00000556227,;	6417	39	31	SUCCESS
NUMB	8650	.	GRCh37	14	73750978	73750978	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	50	147	0	ENST00000355058.3:c.760G>T	p.Glu254Ter	p.E254*	ENST00000355058		254	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32116.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTCCAGAG	NONE	.	.	hmmpanther:PTHR11232:SF33,hmmpanther:PTHR11232,PIRSF_domain:PIRSF017607	.	.	ENSP00000347169	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000355058	Transcript	.	.	ENSG00000133961	8060	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUMB_HUMAN	NUMB	HGNC	Q5D0E5_HUMAN,G3V4S6_HUMAN,G3V3Z8_HUMAN,G3V3R1_HUMAN	.	UPI00001309BF	SNV	NUMB,stop_gained,p.Glu254Ter,ENST00000356296,;NUMB,stop_gained,p.Glu254Ter,ENST00000555394,;NUMB,stop_gained,p.Glu110Ter,ENST00000556772,;NUMB,stop_gained,p.Glu243Ter,ENST00000557597,;NUMB,stop_gained,p.Glu243Ter,ENST00000535282,;NUMB,stop_gained,p.Glu254Ter,ENST00000355058,;NUMB,stop_gained,p.Glu218Ter,ENST00000555859,;NUMB,stop_gained,p.Glu243Ter,ENST00000554546,;NUMB,stop_gained,p.Glu243Ter,ENST00000359560,;NUMB,stop_gained,p.Glu254Ter,ENST00000555307,;NUMB,stop_gained,p.Glu254Ter,ENST00000555238,;NUMB,stop_gained,p.Glu254Ter,ENST00000554394,;NUMB,intron_variant,,ENST00000544991,;NUMB,intron_variant,,ENST00000454166,;NUMB,intron_variant,,ENST00000554521,;NUMB,intron_variant,,ENST00000560335,;NUMB,intron_variant,,ENST00000555738,;NUMB,intron_variant,,ENST00000559312,;NUMB,non_coding_transcript_exon_variant,,ENST00000553997,;NUMB,non_coding_transcript_exon_variant,,ENST00000557486,;NUMB,non_coding_transcript_exon_variant,,ENST00000554014,;NUMB,downstream_gene_variant,,ENST00000556989,;NUMB,downstream_gene_variant,,ENST00000554315,;	1039	147	107	SUCCESS
ASB2	51676	.	GRCh37	14	94423206	94423206	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1433633018	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	13	100	0	ENST00000315988.4:c.73C>T	p.Pro25Ser	p.P25S	ENST00000315988	NM_016150.4	25	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS55940.1	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGTGCAG	NONE	.	.	hmmpanther:PTHR24196:SF0,hmmpanther:PTHR24196	.	.	ENSP00000451575	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000555019	Transcript	.	.	ENSG00000100628	16012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.23)	.	ASB2_HUMAN	ASB2	HGNC	G3V484_HUMAN,B3KPZ6_HUMAN	.	UPI000013D23C	SNV	ASB2,missense_variant,p.Pro25Ser,ENST00000315988,;ASB2,missense_variant,p.Pro73Ser,ENST00000555019,;ASB2,5_prime_UTR_variant,,ENST00000555287,;ASB2,intron_variant,,ENST00000557613,;ASB2,upstream_gene_variant,,ENST00000556062,;ASB2,upstream_gene_variant,,ENST00000555507,;ASB2,intron_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000556793,;	648	100	86	SUCCESS
RYR3	6263	.	GRCh37	15	33835899	33835902	+	frameshift_variant	Frame_Shift_Del	DEL	GAAT	GAAT	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	GAAT	GAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	110	0	ENST00000389232.4:c.725_728del	p.Asn242IlefsTer29	p.N242Ifs*29	ENST00000389232	NM_001036.3	241	caGAAT/ca	0	.	.	.	.	.	-	QN/X	protein_coding	YES	CCDS45210.1	723-726	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACCAGAATGATTC	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000373884	.	8/104	.	.	.	.	.	.	.	.	.	8/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	deletion	RYR3,frameshift_variant,p.Asn242IlefsTer29,ENST00000389232,;RYR3,frameshift_variant,p.Asn242IlefsTer29,ENST00000415757,;	793-796	110	92	SUCCESS
C15orf53	0	.	GRCh37	15	38990484	38990484	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	105	0	ENST00000318792.1:c.278A>C	p.His93Pro	p.H93P	ENST00000318792	NM_207444.2	93	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS10048.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCATGTCT	NONE	.	.	.	.	.	ENSP00000325144	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318792	Transcript	.	.	ENSG00000175779	33796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious_low_confidence(0.04)	.	CO053_HUMAN	C15orf53	HGNC	.	.	UPI000007303A	SNV	C15orf53,missense_variant,p.His93Pro,ENST00000318792,;	288	105	78	SUCCESS
SPTBN5	51332	.	GRCh37	15	42150939	42150939	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372953121	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	56	0	ENST00000320955.6:c.8087C>T	p.Ala2696Val	p.A2696V	ENST00000320955	NM_016642.3	2696	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS61599.1	8087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCAGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150	.	A:0.0001	ENSP00000317790	.	49/68	.	.	.	.	.	.	.	.	rs372953121	49/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Ala2696Val,ENST00000320955,;	8315	56	61	SUCCESS
DMXL2	23312	.	GRCh37	15	51772972	51772972	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	13	87	1	ENST00000251076.5:c.6331G>C	p.Asp2111His	p.D2111H	ENST00000251076	NM_015263.3	2111	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS53946.1	6331	MUTECT|VARSCANS	.	CTGATCCAGCA	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	24/43	.	.	.	.	.	.	.	.	COSM1301216	24/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.007)	.	tolerated(0.24)	1	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,missense_variant,p.Asp1475His,ENST00000449909,;DMXL2,missense_variant,p.Asp2111His,ENST00000543779,;DMXL2,missense_variant,p.Asp236His,ENST00000560891,;DMXL2,missense_variant,p.Asp2111His,ENST00000251076,;RP11-707P17.1,intron_variant,,ENST00000561007,;	6421	88	145	SUCCESS
PSTPIP1	9051	.	GRCh37	15	77320208	77320208	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	210	112	259	0	ENST00000558012.1:c.370G>T	p.Asp124Tyr	p.D124Y	ENST00000558012	NM_003978.3	124	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS45312.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGACCGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF3,Superfamily_domains:SSF103657	.	.	ENSP00000452746	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000558012	Transcript	1	.	ENSG00000140368	9580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	deleterious(0)	.	PPIP1_HUMAN	PSTPIP1	HGNC	.	.	UPI00000703D7	SNV	PSTPIP1,missense_variant,p.Asp115Tyr,ENST00000559859,;PSTPIP1,missense_variant,p.Asp123Tyr,ENST00000267939,;PSTPIP1,missense_variant,p.Asp97Tyr,ENST00000559856,;PSTPIP1,missense_variant,p.Asp124Tyr,ENST00000379595,;PSTPIP1,missense_variant,p.Asp124Tyr,ENST00000559295,;PSTPIP1,missense_variant,p.Asp124Tyr,ENST00000558012,;PSTPIP1,missense_variant,p.Asp124Tyr,ENST00000559161,;PSTPIP1,downstream_gene_variant,,ENST00000558407,;PSTPIP1,upstream_gene_variant,,ENST00000558870,;PSTPIP1,upstream_gene_variant,,ENST00000557995,;PSTPIP1,downstream_gene_variant,,ENST00000560621,;PSTPIP1,missense_variant,p.Asp189Tyr,ENST00000559785,;PSTPIP1,3_prime_UTR_variant,,ENST00000560796,;PSTPIP1,3_prime_UTR_variant,,ENST00000559750,;PSTPIP1,3_prime_UTR_variant,,ENST00000560223,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560377,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000561315,;PSTPIP1,downstream_gene_variant,,ENST00000559795,;	859	259	323	SUCCESS
CTSH	1512	.	GRCh37	15	79223830	79223830	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs941033377	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	74	0	ENST00000220166.5:c.511G>A	p.Asp171Asn	p.D171N	ENST00000220166	NM_004390.3	171	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10308.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCCACCA	NONE	.	.	Superfamily_domains:SSF54001,SMART_domains:SM00645,Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF101	.	.	ENSP00000220166	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000220166	Transcript	1	.	ENSG00000103811	2535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CATH_HUMAN	CTSH	HGNC	Q68D46_HUMAN,E9PKT6_HUMAN	.	UPI000013C799	SNV	CTSH,missense_variant,p.Asp95Asn,ENST00000528741,;CTSH,missense_variant,p.Asp171Asn,ENST00000220166,;CTSH,non_coding_transcript_exon_variant,,ENST00000534237,;CTSH,non_coding_transcript_exon_variant,,ENST00000534533,;CTSH,downstream_gene_variant,,ENST00000534038,;CTSH,downstream_gene_variant,,ENST00000528191,;CTSH,stop_gained,p.Trp61Ter,ENST00000525807,;CTSH,3_prime_UTR_variant,,ENST00000529861,;CTSH,3_prime_UTR_variant,,ENST00000533777,;CTSH,non_coding_transcript_exon_variant,,ENST00000529612,;CTSH,non_coding_transcript_exon_variant,,ENST00000529263,;CTSH,non_coding_transcript_exon_variant,,ENST00000527138,;CTSH,downstream_gene_variant,,ENST00000530929,;CTSH,upstream_gene_variant,,ENST00000527715,;CTSH,downstream_gene_variant,,ENST00000530010,;	621	74	68	SUCCESS
TMC3	342125	.	GRCh37	15	81628988	81628988	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs982687836	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	47	0	ENST00000359440.5:c.2165G>C	p.Arg722Thr	p.R722T	ENST00000359440	NM_001080532.1	722	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS45324.1	2165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCTTGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23302:SF35,hmmpanther:PTHR23302	.	.	ENSP00000352413	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000359440	Transcript	.	.	ENSG00000188869	22995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious(0.01)	.	TMC3_HUMAN	TMC3	HGNC	.	.	UPI00006C154A	SNV	TMC3,missense_variant,p.Arg722Thr,ENST00000359440,;TMC3,missense_variant,p.Arg723Thr,ENST00000558726,;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560973,;RP11-761I4.3,intron_variant,,ENST00000560851,;TMC3,downstream_gene_variant,,ENST00000559982,;	2301	47	83	SUCCESS
AGBL1	123624	.	GRCh37	15	87097621	87097621	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	18	93	0	ENST00000441037.2:c.2709A>G	p.Ala903=	p.A903=	ENST00000441037	NM_152336.2	903	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS58398.1	2709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCACCAGC	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756,Pfam_domain:PF00246,Superfamily_domains:SSF53187	.	.	ENSP00000413001	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;	2804	93	103	SUCCESS
DET1	55070	.	GRCh37	15	89074816	89074816	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768351159	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	15	116	0	ENST00000268148.8:c.121G>A	p.Val41Met	p.V41M	ENST00000268148	NM_001144074.1	41	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45343.1	154	MUTECT|MUSE|VARSCANS	.	GAACACTCGGA	NONE	.	.	hmmpanther:PTHR13374	.	.	ENSP00000456340	.	3/6	.	.	.	.	.	.	.	.	rs768351159	3/6	PASS	ENST00000564406	Transcript	.	.	ENSG00000140543	25477	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.071)	.	tolerated(0.12)	.	DET1_HUMAN	DET1	HGNC	.	.	UPI00001A8183	SNV	DET1,missense_variant,p.Val52Met,ENST00000564406,;DET1,missense_variant,p.Val52Met,ENST00000444300,;DET1,missense_variant,p.Val41Met,ENST00000268148,;DET1,intron_variant,,ENST00000558413,;DET1,downstream_gene_variant,,ENST00000559656,;DET1,intron_variant,,ENST00000557842,;DET1,intron_variant,,ENST00000557837,;	315	116	160	SUCCESS
MFGE8	4240	.	GRCh37	15	89453089	89453089	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs148213281	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	21	155	0	ENST00000268150.8:c.139G>C	p.Gly47Arg	p.G47R	ENST00000268150	NM_005928.2	47	Gga/Cga	0	G:0.0005	G:0.0008	.	G:0	.	G	G/R	protein_coding	YES	CCDS10347.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCTCGCA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF00008,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,PROSITE_profiles:PS50026	G:0	G:0	ENSP00000268150	G:0	2/8	.	.	.	.	.	.	.	.	rs148213281	2/8	PASS	ENST00000268150	Transcript	.	G:0.0002	ENSG00000140545	7036	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	G:0	deleterious(0.01)	.	MFGM_HUMAN	MFGE8	HGNC	.	.	UPI000013D7A3	SNV	MFGE8,missense_variant,p.Gly47Arg,ENST00000566497,;MFGE8,missense_variant,p.Gly39Arg,ENST00000539437,;MFGE8,missense_variant,p.Gly47Arg,ENST00000268151,;MFGE8,missense_variant,p.Gly47Arg,ENST00000558029,;MFGE8,missense_variant,p.Gly47Arg,ENST00000268150,;MFGE8,intron_variant,,ENST00000542878,;MFGE8,intron_variant,,ENST00000559997,;MFGE8,upstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559770,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559143,;MFGE8,intron_variant,,ENST00000558352,;MFGE8,downstream_gene_variant,,ENST00000557944,;MFGE8,downstream_gene_variant,,ENST00000558773,;MFGE8,upstream_gene_variant,,ENST00000559259,;	231	155	172	SUCCESS
BLM	641	.	GRCh37	15	91293034	91293034	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	21	134	0	ENST00000355112.3:c.536G>T	p.Arg179Ile	p.R179I	ENST00000355112	NM_000057.2	179	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS10363.1	536	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAGAGTAA	NONE	.	.	.	.	.	ENSP00000347232	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000355112	Transcript	1	.	ENSG00000197299	1058	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	BLM_HUMAN	BLM	HGNC	.	.	UPI00001269FA	SNV	BLM,missense_variant,p.Arg179Ile,ENST00000560509,;BLM,missense_variant,p.Arg179Ile,ENST00000355112,;BLM,non_coding_transcript_exon_variant,,ENST00000559282,;BLM,upstream_gene_variant,,ENST00000558599,;BLM,missense_variant,p.Arg179Ile,ENST00000559724,;	654	134	179	SUCCESS
C16orf93	0	.	GRCh37	16	30768907	30768907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	54	0	ENST00000543610.1:c.886C>A	p.Leu296Met	p.L296M	ENST00000543610	NM_001014979.2	296	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS32434.2	886	RADIA|MUTECT|MUSE	.	CACCAGCCCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000437532	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000543610	Transcript	.	.	ENSG00000196118	28078	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.184)	.	tolerated(0.12)	.	CP093_HUMAN	C16orf93	HGNC	.	.	UPI0000EA2A74	SNV	C16orf93,missense_variant,p.Leu361Met,ENST00000541260,;C16orf93,missense_variant,p.Leu110Met,ENST00000535476,;C16orf93,missense_variant,p.Leu296Met,ENST00000543610,;PHKG2,3_prime_UTR_variant,,ENST00000563588,;C16orf93,3_prime_UTR_variant,,ENST00000544613,;PHKG2,intron_variant,,ENST00000424889,;RNF40,upstream_gene_variant,,ENST00000566811,;C16orf93,downstream_gene_variant,,ENST00000545825,;RNF40,upstream_gene_variant,,ENST00000563683,;PHKG2,downstream_gene_variant,,ENST00000561712,;RNF40,upstream_gene_variant,,ENST00000324685,;RNF40,upstream_gene_variant,,ENST00000402121,;RNF40,upstream_gene_variant,,ENST00000565931,;PHKG2,downstream_gene_variant,,ENST00000565897,;PHKG2,downstream_gene_variant,,ENST00000565924,;PHKG2,downstream_gene_variant,,ENST00000328273,;RNF40,upstream_gene_variant,,ENST00000563909,;RNF40,upstream_gene_variant,,ENST00000565995,;RNF40,upstream_gene_variant,,ENST00000357890,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544487,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544643,;C16orf93,non_coding_transcript_exon_variant,,ENST00000543128,;C16orf93,non_coding_transcript_exon_variant,,ENST00000546006,;C16orf93,non_coding_transcript_exon_variant,,ENST00000433909,;C16orf93,non_coding_transcript_exon_variant,,ENST00000537986,;PHKG2,downstream_gene_variant,,ENST00000563913,;RNF40,upstream_gene_variant,,ENST00000493683,;PHKG2,downstream_gene_variant,,ENST00000563607,;C16orf93,downstream_gene_variant,,ENST00000545809,;PHKG2,downstream_gene_variant,,ENST00000569684,;PHKG2,downstream_gene_variant,,ENST00000564838,;	1848	54	36	SUCCESS
C16orf93	0	.	GRCh37	16	30768908	30768908	+	synonymous_variant	Silent	SNP	C	C	T	rs757905209	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	55	0	ENST00000543610.1:c.885G>A	p.Gly295=	p.G295=	ENST00000543610	NM_001014979.2	295	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32434.2	885	RADIA|MUTECT|MUSE	.	ACCAGCCCCTG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000437532	.	9/9	.	.	.	.	.	.	.	.	rs757905209	9/9	PASS	ENST00000543610	Transcript	.	.	ENSG00000196118	28078	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP093_HUMAN	C16orf93	HGNC	.	.	UPI0000EA2A74	SNV	C16orf93,synonymous_variant,p.%3D,ENST00000541260,;C16orf93,synonymous_variant,p.%3D,ENST00000535476,;C16orf93,synonymous_variant,p.%3D,ENST00000543610,;PHKG2,3_prime_UTR_variant,,ENST00000563588,;C16orf93,3_prime_UTR_variant,,ENST00000544613,;PHKG2,intron_variant,,ENST00000424889,;RNF40,upstream_gene_variant,,ENST00000566811,;C16orf93,downstream_gene_variant,,ENST00000545825,;RNF40,upstream_gene_variant,,ENST00000563683,;PHKG2,downstream_gene_variant,,ENST00000561712,;RNF40,upstream_gene_variant,,ENST00000324685,;RNF40,upstream_gene_variant,,ENST00000402121,;RNF40,upstream_gene_variant,,ENST00000565931,;PHKG2,downstream_gene_variant,,ENST00000565897,;PHKG2,downstream_gene_variant,,ENST00000565924,;PHKG2,downstream_gene_variant,,ENST00000328273,;RNF40,upstream_gene_variant,,ENST00000563909,;RNF40,upstream_gene_variant,,ENST00000565995,;RNF40,upstream_gene_variant,,ENST00000357890,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544487,;C16orf93,non_coding_transcript_exon_variant,,ENST00000544643,;C16orf93,non_coding_transcript_exon_variant,,ENST00000543128,;C16orf93,non_coding_transcript_exon_variant,,ENST00000546006,;C16orf93,non_coding_transcript_exon_variant,,ENST00000433909,;C16orf93,non_coding_transcript_exon_variant,,ENST00000537986,;PHKG2,downstream_gene_variant,,ENST00000563913,;RNF40,upstream_gene_variant,,ENST00000493683,;PHKG2,downstream_gene_variant,,ENST00000563607,;C16orf93,downstream_gene_variant,,ENST00000545809,;PHKG2,downstream_gene_variant,,ENST00000569684,;PHKG2,downstream_gene_variant,,ENST00000564838,;	1847	55	36	SUCCESS
AXIN1	8312	.	GRCh37	16	348025	348025	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs767214854	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	34	0	ENST00000262320.3:c.1481del	p.Pro494ArgfsTer211	p.P494Rfs*211	ENST00000262320	NM_003502.3	494	cCg/cg	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10405.1	1481	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTCCGGGGAG	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF08833	.	.	ENSP00000262320	.	6/11	.	.	.	.	.	.	.	.	rs767214854	6/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	deletion	AXIN1,frameshift_variant,p.Pro494ArgfsTer211,ENST00000262320,;AXIN1,frameshift_variant,p.Pro494ArgfsTer211,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1853	34	46	SUCCESS
N4BP1	9683	.	GRCh37	16	48576816	48576816	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	66	0	ENST00000262384.3:c.2690G>T	p.Ter897LeuextTer4	p.*897Lext*4	ENST00000262384	NM_153029.3	897	tGa/tTa	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS45479.1	2690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCAATCC	NONE	.	.	.	.	.	ENSP00000262384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000262384	Transcript	.	.	ENSG00000102921	29850	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N4BP1_HUMAN	N4BP1	HGNC	I3L3R7_HUMAN	.	UPI000013D2A2	SNV	N4BP1,stop_lost,p.Ter897LeuextTer4,ENST00000262384,;N4BP1,non_coding_transcript_exon_variant,,ENST00000565423,;N4BP1,downstream_gene_variant,,ENST00000565638,;N4BP1,downstream_gene_variant,,ENST00000564124,;N4BP1,downstream_gene_variant,,ENST00000569027,;	2927	66	46	SUCCESS
HYDIN	54768	.	GRCh37	16	71007855	71007855	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	9	97	0	ENST00000393567.2:c.5106T>G	p.Ser1702=	p.S1702=	ENST00000393567	NM_001270974.1	1702	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS59269.1	5106	MUTECT|MUSE|VARSCANS	.	CCACGAGAGAG	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	34/86	.	.	.	.	.	.	.	.	.	34/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,upstream_gene_variant,,ENST00000309900,;	5257	98	118	SUCCESS
ZFHX3	463	.	GRCh37	16	72991690	72991690	+	synonymous_variant	Silent	SNP	A	A	G	rs1320473293	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	33	0	ENST00000268489.5:c.2355T>C	p.Asn785=	p.N785=	ENST00000268489	NM_006885.3	785	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS10908.1	2355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATATTGGC	NONE	.	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208	.	.	ENSP00000268489	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,synonymous_variant,p.%3D,ENST00000268489,;ZFHX3,intron_variant,,ENST00000397992,;	3028	33	36	SUCCESS
ZNF469	84627	.	GRCh37	16	88502399	88502399	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	37	0	ENST00000437464.1:c.8437G>A	p.Ala2813Thr	p.A2813T	ENST00000437464	NM_001127464.1	2813	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45544.1	8437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGCCTCT	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ala2841Thr,ENST00000565624,;ZNF469,missense_variant,p.Ala2813Thr,ENST00000437464,;	8437	37	28	SUCCESS
PRDM7	11105	.	GRCh37	16	90128609	90128609	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	107	0	ENST00000449207.2:c.611-9C>T		p.*204*	ENST00000449207	NM_001098173.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45557.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGAGGGA	NONE	.	.	.	.	.	ENSP00000396732	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449207	Transcript	.	.	ENSG00000126856	9351	.	.	MODIFIER	6/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM7_HUMAN	PRDM7	HGNC	.	.	UPI00015294E9	SNV	PRDM7,5_prime_UTR_variant,,ENST00000325921,;PRDM7,intron_variant,,ENST00000449207,;PRDM7,intron_variant,,ENST00000407825,;PRDM7,intron_variant,,ENST00000568473,;PRDM7,intron_variant,,ENST00000564210,;	.	107	93	SUCCESS
MAP2K3	5606	.	GRCh37	17	21188117	21188117	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1567654208	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	95	0	ENST00000342679.4:c.-116C>T		p.*39*	ENST00000342679	NM_145109.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11217.1	.	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	.	.	.	.	ENSP00000345083	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000342679	Transcript	.	.	ENSG00000034152	6843	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MP2K3_HUMAN	MAP2K3	HGNC	Q6FI23_HUMAN,E9PRZ0_HUMAN,D3DXI2_HUMAN	.	UPI000012F48C	SNV	MAP2K3,5_prime_UTR_variant,,ENST00000529517,;MAP2K3,5_prime_UTR_variant,,ENST00000342679,;MAP2K3,upstream_gene_variant,,ENST00000526076,;MAP2K3,upstream_gene_variant,,ENST00000316920,;MAP2K3,upstream_gene_variant,,ENST00000361818,;MAP2K3,non_coding_transcript_exon_variant,,ENST00000534743,;MAP2K3,5_prime_UTR_variant,,ENST00000483928,;MAP2K3,5_prime_UTR_variant,,ENST00000395491,;MAP2K3,5_prime_UTR_variant,,ENST00000479129,;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,;MAP2K3,upstream_gene_variant,,ENST00000496046,;	134	95	105	SUCCESS
RAB11FIP4	84440	.	GRCh37	17	29844766	29844766	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749890166	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	35	167	1	ENST00000325874.8:c.434C>T	p.Ala145Val	p.A145V	ENST00000325874	NM_032932.3	145	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11267.1	434	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGCCAC	NONE	byFrequency	.	hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF5	.	.	ENSP00000312837	.	4/15	.	.	.	.	.	.	.	.	rs749890166	4/15	PASS	ENST00000325874	Transcript	.	.	ENSG00000131242	30267	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(1)	.	RFIP4_HUMAN	RAB11FIP4	HGNC	K7EL58_HUMAN	.	UPI000000D857	SNV	RAB11FIP4,missense_variant,p.Ala101Val,ENST00000582009,;RAB11FIP4,missense_variant,p.Ala145Val,ENST00000325874,;RAB11FIP4,missense_variant,p.Ala43Val,ENST00000394744,;RAB11FIP4,intron_variant,,ENST00000583755,;RN7SL45P,upstream_gene_variant,,ENST00000578050,;RAB11FIP4,3_prime_UTR_variant,,ENST00000578694,;RAB11FIP4,upstream_gene_variant,,ENST00000581460,;RAB11FIP4,downstream_gene_variant,,ENST00000579589,;RAB11FIP4,upstream_gene_variant,,ENST00000585058,;	663	168	189	SUCCESS
PLXDC1	57125	.	GRCh37	17	37228755	37228755	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	10	62	0	ENST00000315392.4:c.1187-17G>A		p.*396*	ENST00000315392	NM_020405.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11333.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACAGAAG	NONE	.	.	.	.	.	ENSP00000323927	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315392	Transcript	.	.	ENSG00000161381	20945	.	.	MODIFIER	11/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLDX1_HUMAN	PLXDC1	HGNC	J3QR40_HUMAN,C9JWQ3_HUMAN,C9JCL2_HUMAN	.	UPI0000049814	SNV	PLXDC1,intron_variant,,ENST00000539608,;PLXDC1,intron_variant,,ENST00000444911,;PLXDC1,intron_variant,,ENST00000315392,;CTD-2206N4.4,non_coding_transcript_exon_variant,,ENST00000583447,;CTD-2206N4.4,intron_variant,,ENST00000578423,;PLXDC1,intron_variant,,ENST00000493200,;PLXDC1,intron_variant,,ENST00000578517,;PLXDC1,intron_variant,,ENST00000579417,;PLXDC1,intron_variant,,ENST00000394318,;PLXDC1,intron_variant,,ENST00000578390,;PLXDC1,intron_variant,,ENST00000461225,;PLXDC1,intron_variant,,ENST00000582025,;PLXDC1,upstream_gene_variant,,ENST00000578277,;	.	62	78	SUCCESS
PSME3	10197	.	GRCh37	17	40989684	40989684	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	23	117	0	ENST00000590720.1:c.262A>T	p.Arg88Trp	p.R88W	ENST00000590720		88	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11442.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAAGGTTG	NONE	.	.	hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF4	.	.	ENSP00000293362	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000293362	Transcript	.	.	ENSG00000131467	9570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.647)	.	deleterious(0)	.	PSME3_HUMAN	PSME3	HGNC	.	.	UPI000002B1BA	SNV	PSME3,missense_variant,p.Arg88Trp,ENST00000590720,;PSME3,missense_variant,p.Arg88Trp,ENST00000589469,;PSME3,missense_variant,p.Arg27Trp,ENST00000586114,;PSME3,missense_variant,p.Arg27Trp,ENST00000591152,;PSME3,missense_variant,p.Arg27Trp,ENST00000585805,;PSME3,missense_variant,p.Arg99Trp,ENST00000441946,;PSME3,missense_variant,p.Arg88Trp,ENST00000293362,;PSME3,missense_variant,p.Arg27Trp,ENST00000545225,;PSME3,missense_variant,p.Arg32Trp,ENST00000592169,;PSME3,3_prime_UTR_variant,,ENST00000541124,;BECN1,upstream_gene_variant,,ENST00000591404,;BECN1,upstream_gene_variant,,ENST00000589636,;PSME3,downstream_gene_variant,,ENST00000592578,;PSME3,downstream_gene_variant,,ENST00000592458,;PSME3,missense_variant,p.Arg88Trp,ENST00000543428,;PSME3,3_prime_UTR_variant,,ENST00000586312,;PSME3,non_coding_transcript_exon_variant,,ENST00000593111,;PSME3,non_coding_transcript_exon_variant,,ENST00000591722,;	423	117	138	SUCCESS
EFCAB13	124989	.	GRCh37	17	45468897	45468897	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs370786503	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	295	71	369	0	ENST00000331493.2:c.1677C>G	p.Tyr559Ter	p.Y559*	ENST00000331493	NM_152347.4	559	taC/taG	0	.	G:0	.	G:0	.	G	Y/*	protein_coding	YES	CCDS11512.1	1677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACCTTTC	BUFFER|p.Y559S|c.1676A>C|4	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22656,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	G:0.004	.	ENSP00000332111	G:0	15/25	.	.	.	.	.	.	.	.	rs370786503,COSM1750100	15/25	PASS	ENST00000331493	Transcript	.	G:0.0012	ENSG00000178852	26864	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	G:0.002	.	0,1	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,stop_gained,p.Tyr85Ter,ENST00000523842,;EFCAB13,stop_gained,p.Tyr463Ter,ENST00000517484,;EFCAB13,stop_gained,p.Tyr559Ter,ENST00000331493,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000522326,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000520776,;	2088	369	367	SUCCESS
NUP88	4927	.	GRCh37	17	5312086	5312086	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	16	80	0	ENST00000573584.1:c.824A>G	p.Glu275Gly	p.E275G	ENST00000573584	NM_002532.4	275	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS11070.1	824	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCTCTCCA	NONE	.	.	hmmpanther:PTHR13257:SF0,hmmpanther:PTHR13257,Pfam_domain:PF10168	.	.	ENSP00000458954	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000573584	Transcript	.	.	ENSG00000108559	8067	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	deleterious(0.03)	.	NUP88_HUMAN	NUP88	HGNC	I3L245_HUMAN	.	UPI0000130894	SNV	NUP88,missense_variant,p.Glu214Gly,ENST00000225696,;NUP88,missense_variant,p.Glu144Gly,ENST00000572809,;NUP88,missense_variant,p.Glu275Gly,ENST00000573584,;NUP88,non_coding_transcript_exon_variant,,ENST00000574867,;	1334	80	98	SUCCESS
TBX4	9496	.	GRCh37	17	59560478	59560478	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	57	0	ENST00000240335.1:c.1239T>C	p.Pro413=	p.P413=	ENST00000240335	NM_018488.2	413	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS11629.1	1239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTCCGCT	NONE	.	.	hmmpanther:PTHR11267:SF29,hmmpanther:PTHR11267	.	.	ENSP00000240335	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240335	Transcript	.	.	ENSG00000121075	11603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBX4_HUMAN	TBX4	HGNC	K7EPY2_HUMAN	.	UPI000013CAA9	SNV	TBX4,synonymous_variant,p.%3D,ENST00000240335,;TBX4,synonymous_variant,p.%3D,ENST00000393853,;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,intron_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000586874,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,downstream_gene_variant,,ENST00000590174,;	1284	57	84	SUCCESS
RNMTL1	0	.	GRCh37	17	695150	695150	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	5	60	0	ENST00000304478.4:c.1104G>A	p.Gln368=	p.Q368=	ENST00000304478	NM_018146.2	368	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS10997.1	1104	MUTECT|MUSE	.	CTGCAGCTGGC	NONE	.	.	hmmpanther:PTHR12029,Gene3D:3.40.1280.10,Pfam_domain:PF00588,Superfamily_domains:SSF75217	.	.	ENSP00000306080	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304478	Transcript	.	.	ENSG00000171861	18485	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RMTL1_HUMAN	RNMTL1	HGNC	.	.	UPI000003B01C	SNV	RNMTL1,synonymous_variant,p.%3D,ENST00000304478,;RNMTL1,downstream_gene_variant,,ENST00000571157,;RP11-676J12.8,upstream_gene_variant,,ENST00000574560,;RNMTL1,downstream_gene_variant,,ENST00000574509,;	1210	60	88	SUCCESS
ENDOV	284131	.	GRCh37	17	78397427	78397427	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	34	0	ENST00000518137.1:c.511G>T	p.Glu171Ter	p.E171*	ENST00000518137	NM_173627.3	171	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54172.1	511	MUTECT|MUSE|VARSCANS	.	ACAAGGAGAAG	NONE	.	.	HAMAP:MF_00801,Pfam_domain:PF04493	.	.	ENSP00000429190	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000518137	Transcript	.	.	ENSG00000173818	26640	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENDOV_HUMAN	ENDOV	HGNC	I3L4V7_HUMAN,I3L1V3_HUMAN,E5RHX4_HUMAN	.	UPI0000072E31	SNV	ENDOV,stop_gained,p.Glu88Ter,ENST00000522200,;ENDOV,stop_gained,p.Glu88Ter,ENST00000518644,;ENDOV,stop_gained,p.Glu126Ter,ENST00000520367,;ENDOV,stop_gained,p.Glu88Ter,ENST00000517295,;ENDOV,stop_gained,p.Glu171Ter,ENST00000518137,;ENDOV,stop_gained,p.Glu126Ter,ENST00000323854,;ENDOV,stop_gained,p.Glu37Ter,ENST00000521634,;ENDOV,stop_gained,p.Glu22Ter,ENST00000572886,;ENDOV,stop_gained,p.Glu88Ter,ENST00000521565,;ENDOV,5_prime_UTR_variant,,ENST00000517795,;ENDOV,5_prime_UTR_variant,,ENST00000523828,;ENDOV,5_prime_UTR_variant,,ENST00000520136,;ENDOV,5_prime_UTR_variant,,ENST00000522751,;ENDOV,5_prime_UTR_variant,,ENST00000520284,;ENDOV,5_prime_UTR_variant,,ENST00000518907,;ENDOV,5_prime_UTR_variant,,ENST00000518901,;ENDOV,downstream_gene_variant,,ENST00000523999,;ENDOV,upstream_gene_variant,,ENST00000519331,;ENDOV,downstream_gene_variant,,ENST00000523228,;MIR4730,downstream_gene_variant,,ENST00000584535,;ENDOV,non_coding_transcript_exon_variant,,ENST00000521330,;ENDOV,downstream_gene_variant,,ENST00000521830,;ENDOV,downstream_gene_variant,,ENST00000521847,;ENDOV,missense_variant,p.Arg112Ser,ENST00000522577,;ENDOV,missense_variant,p.Gly55Val,ENST00000520484,;ENDOV,3_prime_UTR_variant,,ENST00000519117,;ENDOV,non_coding_transcript_exon_variant,,ENST00000520118,;ENDOV,downstream_gene_variant,,ENST00000520565,;	539	34	40	SUCCESS
GUCY2D	3000	.	GRCh37	17	7906545	7906545	+	synonymous_variant	Silent	SNP	C	C	A	rs753766842	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	812	193	798	0	ENST00000254854.4:c.180C>A	p.Gly60=	p.G60=	ENST00000254854	NM_000180.3	60	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS11127.1	180	RADIA|SOMATICSNIPER|VARSCANS	.	CTGGGCCCCTG	NONE	.	.	hmmpanther:PTHR11920:SF228,hmmpanther:PTHR11920,Superfamily_domains:SSF53822	.	.	ENSP00000254854	.	2/20	.	.	.	.	.	.	.	.	rs753766842	2/20	PASS	ENST00000254854	Transcript	.	.	ENSG00000132518	4689	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GUC2D_HUMAN	GUCY2D	HGNC	.	.	UPI0000128C1C	SNV	GUCY2D,synonymous_variant,p.%3D,ENST00000254854,;	330	798	1005	SUCCESS
FASN	2194	.	GRCh37	17	80043416	80043416	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	28	180	0	ENST00000306749.2:c.4064A>T	p.Asp1355Val	p.D1355V	ENST00000306749	NM_004104.4	1355	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS11801.1	4064	RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTCCCCG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000304592	.	23/43	.	.	.	.	.	.	.	.	.	23/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.02)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Asp1355Val,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000580382,;	4283	180	223	SUCCESS
CD7	924	.	GRCh37	17	80274230	80274230	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	68	0	ENST00000312648.3:c.453C>A	p.Ala151=	p.A151=	ENST00000312648	NM_006137.6	151	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11807.1	453	RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGGCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15343,hmmpanther:PTHR15343:SF0	.	.	ENSP00000312027	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000312648	Transcript	.	.	ENSG00000173762	1695	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD7_HUMAN	CD7	HGNC	Q29VG3_HUMAN,Q29VG2_HUMAN,J3QLC7_HUMAN	.	UPI00000359A4	SNV	CD7,synonymous_variant,p.%3D,ENST00000584284,;CD7,synonymous_variant,p.%3D,ENST00000583376,;CD7,synonymous_variant,p.%3D,ENST00000312648,;CD7,synonymous_variant,p.%3D,ENST00000578509,;CD7,downstream_gene_variant,,ENST00000582480,;SECTM1,downstream_gene_variant,,ENST00000269389,;CD7,3_prime_UTR_variant,,ENST00000581434,;CD7,non_coding_transcript_exon_variant,,ENST00000581744,;	560	68	91	SUCCESS
ARHGEF15	22899	.	GRCh37	17	8215455	8215455	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	65	153	0	ENST00000361926.3:c.98C>T	p.Ser33Phe	p.S33F	ENST00000361926	NM_173728.3	33	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS11139.1	98	RADIA|SOMATICSNIPER|VARSCANS	.	CCAGTCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7	.	.	ENSP00000355026	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000361926	Transcript	.	.	ENSG00000198844	15590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	deleterious_low_confidence(0)	.	ARHGF_HUMAN	ARHGEF15	HGNC	J3QS60_HUMAN,J3KT46_HUMAN	.	UPI000013D2C0	SNV	ARHGEF15,missense_variant,p.Ser33Phe,ENST00000579439,;ARHGEF15,missense_variant,p.Ser33Phe,ENST00000361926,;ARHGEF15,missense_variant,p.Ser33Phe,ENST00000421050,;ARHGEF15,missense_variant,p.Ser33Phe,ENST00000583529,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000581809,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;	208	153	173	SUCCESS
NDEL1	81565	.	GRCh37	17	8363472	8363472	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	12	135	0	ENST00000334527.7:c.938A>T	p.Asp313Val	p.D313V	ENST00000334527	NM_030808.4	313	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS11143.1	938	MUTECT|MUSE|VARSCANS	.	CTTCGACAAAG	NONE	.	.	hmmpanther:PTHR10921,hmmpanther:PTHR10921:SF0,Pfam_domain:PF04880	.	.	ENSP00000333982	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000334527	Transcript	.	.	ENSG00000166579	17620	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.709)	.	deleterious(0.04)	.	NDEL1_HUMAN	NDEL1	HGNC	J3QL85_HUMAN,J3QL31_HUMAN,J3KT16_HUMAN,J3KSF2_HUMAN,J3KRK9_HUMAN,B4DS41_HUMAN	.	UPI000000D76C	SNV	NDEL1,missense_variant,p.Asp313Val,ENST00000299734,;NDEL1,missense_variant,p.Asp166Val,ENST00000582277,;NDEL1,missense_variant,p.Asp313Val,ENST00000334527,;NDEL1,missense_variant,p.Asp138Val,ENST00000581679,;NDEL1,missense_variant,p.Asp313Val,ENST00000402554,;NDEL1,intron_variant,,ENST00000380025,;NDEL1,intron_variant,,ENST00000585098,;NDEL1,upstream_gene_variant,,ENST00000578172,;NDEL1,upstream_gene_variant,,ENST00000583683,;	1135	135	130	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60217605	60217618	+	frameshift_variant	Frame_Shift_Del	DEL	ACTTTTGACAAGAC	ACTTTTGACAAGAC	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	ACTTTTGACAAGAC	ACTTTTGACAAGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	116	0	ENST00000269499.5:c.1225_1238del	p.Thr409HisfsTer19	p.T409Hfs*19	ENST00000269499	NM_017742.4	409	ACTTTTGACAAGACc/c	0	.	.	.	.	.	-	TFDKT/X	protein_coding	YES	CCDS45880.1	1225-1238	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGAGACTTTTGACAAGACCATCT	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13,Gene3D:3.30.1520.10,Superfamily_domains:SSF64268	.	.	ENSP00000269499	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	deletion	ZCCHC2,frameshift_variant,p.Thr88HisfsTer19,ENST00000586834,;ZCCHC2,frameshift_variant,p.Thr409HisfsTer19,ENST00000269499,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000591632,;ZCCHC2,frameshift_variant,p.Thr329HisfsTer19,ENST00000585873,;	1643-1656	116	70	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60242385	60242385	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758361789	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	75	0	ENST00000269499.5:c.3071A>T	p.Asn1024Ile	p.N1024I	ENST00000269499	NM_017742.4	1024	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS45880.1	3071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAATGGAA	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	.	.	ENSP00000269499	.	13/14	.	.	.	.	.	.	.	.	rs758361789	13/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	deleterious(0)	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,missense_variant,p.Asn703Ile,ENST00000586834,;ZCCHC2,missense_variant,p.Asn1024Ile,ENST00000269499,;ZCCHC2,intron_variant,,ENST00000587612,;ZCCHC2,missense_variant,p.Asn944Ile,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;ZCCHC2,upstream_gene_variant,,ENST00000591145,;	3489	75	67	SUCCESS
LAMA1	284217	.	GRCh37	18	7080342	7080342	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375547281	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	35	188	0	ENST00000389658.3:c.176G>A	p.Arg59Gln	p.R59Q	ENST00000389658	NM_005559.3	59	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS32787.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCGACCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136	.	T:0.0001	ENSP00000374309	.	2/63	.	.	.	.	.	.	.	.	rs375547281,COSM1389744	2/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.627)	.	tolerated(0.83)	0,1	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Arg59Gln,ENST00000389658,;RP11-76K13.3,downstream_gene_variant,,ENST00000581502,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	270	188	168	SUCCESS
PDE4C	5143	.	GRCh37	19	18327687	18327687	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	63	0	ENST00000355502.3:c.1349T>C	p.Met450Thr	p.M450T	ENST00000355502		450	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS12373.1	1349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACATAAGC	NONE	.	.	hmmpanther:PTHR11347:SF94,hmmpanther:PTHR11347,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000347689	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000355502	Transcript	.	.	ENSG00000105650	8782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	deleterious(0.01)	.	PDE4C_HUMAN	PDE4C	HGNC	Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN	.	UPI0000127BF8	SNV	PDE4C,missense_variant,p.Met220Thr,ENST00000597297,;PDE4C,missense_variant,p.Met450Thr,ENST00000594465,;PDE4C,missense_variant,p.Met450Thr,ENST00000594617,;PDE4C,missense_variant,p.Met418Thr,ENST00000262805,;PDE4C,missense_variant,p.Met344Thr,ENST00000447275,;PDE4C,missense_variant,p.Met450Thr,ENST00000355502,;PDE4C,missense_variant,p.Met165Thr,ENST00000598111,;PDE4C,missense_variant,p.Met219Thr,ENST00000539010,;PDE4C,downstream_gene_variant,,ENST00000610023,;AC068499.10,intron_variant,,ENST00000594805,;PDE4C,3_prime_UTR_variant,,ENST00000599188,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;PDE4C,downstream_gene_variant,,ENST00000597573,;PDE4C,downstream_gene_variant,,ENST00000593594,;PDE4C,downstream_gene_variant,,ENST00000595343,;	2221	63	69	SUCCESS
COMP	1311	.	GRCh37	19	18896571	18896571	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1374391457	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	41	0	ENST00000222271.2:c.1580C>T	p.Thr527Met	p.T527M	ENST00000222271	NM_000095.2	527	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS12385.1	1580	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGTGACT	NONE	.	.	PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF81,Pfam_domain:PF02412,Gene3D:1ux6A01,Superfamily_domains:0044556	.	.	ENSP00000222271	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000222271	Transcript	1	.	ENSG00000105664	2227	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	COMP_HUMAN	COMP	HGNC	G3XAP6_HUMAN	.	UPI000013C7F6	SNV	COMP,missense_variant,p.Thr494Met,ENST00000542601,;COMP,missense_variant,p.Thr474Met,ENST00000425807,;COMP,missense_variant,p.Thr527Met,ENST00000222271,;CRTC1,downstream_gene_variant,,ENST00000338797,;COMP,downstream_gene_variant,,ENST00000546510,;	1625	41	45	SUCCESS
ZNF675	171392	.	GRCh37	19	23869892	23869892	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	25	0	ENST00000359788.4:c.-57C>A		p.*19*	ENST00000359788	NM_138330.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32981.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGTCACA	NONE	.	.	.	.	.	ENSP00000352836	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000359788	Transcript	.	.	ENSG00000197372	30768	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,5_prime_UTR_variant,,ENST00000359788,;ZNF675,5_prime_UTR_variant,,ENST00000601010,;ZNF675,5_prime_UTR_variant,,ENST00000601935,;ZNF675,5_prime_UTR_variant,,ENST00000596211,;ZNF675,5_prime_UTR_variant,,ENST00000600313,;ZNF675,5_prime_UTR_variant,,ENST00000599168,;ZNF675,upstream_gene_variant,,ENST00000599535,;ZNF675,5_prime_UTR_variant,,ENST00000597074,;	113	25	40	SUCCESS
RGS9BP	388531	.	GRCh37	19	33167015	33167015	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	21	0	ENST00000334176.3:c.-155C>T		p.*52*	ENST00000334176	NM_207391.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32986.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCCGTGG	NONE	.	910	.	.	.	ENSP00000304292	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306065	Transcript	.	.	ENSG00000105186	25310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANR27_HUMAN	ANKRD27	HGNC	K7EPM2_HUMAN,K7EIN0_HUMAN,K7EIH4_HUMAN	.	UPI000004FDE9	SNV	ANKRD27,5_prime_UTR_variant,,ENST00000590519,;RGS9BP,5_prime_UTR_variant,,ENST00000334176,;ANKRD27,upstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000306065,;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	.	21	20	SUCCESS
C19orf55	0	.	GRCh37	19	36256011	36256011	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	50	0	ENST00000396908.4:c.703G>A	p.Gly235Ser	p.G235S	ENST00000396908	NM_001039887.2	235	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGGCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22045	.	.	ENSP00000467267	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000544099	Transcript	.	.	ENSG00000167595	25204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	.	C19orf55	HGNC	K7EP81_HUMAN	.	UPI00006CA356	SNV	C19orf55,missense_variant,p.Gly234Ser,ENST00000301165,;C19orf55,missense_variant,p.Gly235Ser,ENST00000544099,;C19orf55,missense_variant,p.Gly235Ser,ENST00000396908,;C19orf55,downstream_gene_variant,,ENST00000421853,;C19orf55,downstream_gene_variant,,ENST00000542134,;C19orf55,downstream_gene_variant,,ENST00000537459,;C19orf55,downstream_gene_variant,,ENST00000444637,;C19orf55,downstream_gene_variant,,ENST00000536950,;C19orf55,downstream_gene_variant,,ENST00000545674,;AC002398.13,downstream_gene_variant,,ENST00000589397,;C19orf55,non_coding_transcript_exon_variant,,ENST00000542591,;C19orf55,intron_variant,,ENST00000544876,;C19orf55,upstream_gene_variant,,ENST00000536037,;C19orf55,missense_variant,p.Gly223Ser,ENST00000535581,;C19orf55,downstream_gene_variant,,ENST00000601095,;C19orf55,upstream_gene_variant,,ENST00000544158,;C19orf55,downstream_gene_variant,,ENST00000600988,;C19orf55,downstream_gene_variant,,ENST00000539771,;	766	50	42	SUCCESS
WDR62	284403	.	GRCh37	19	36592199	36592199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	40	147	0	ENST00000270301.7:c.2951A>T	p.Lys984Met	p.K984M	ENST00000270301		984	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS46059.1	2951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAAGGACC	NONE	.	.	.	.	.	ENSP00000384792	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000401500	Transcript	1	.	ENSG00000075702	24502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	WDR62_HUMAN	WDR62	HGNC	.	.	UPI000022A7E9	SNV	WDR62,missense_variant,p.Lys984Met,ENST00000270301,;WDR62,missense_variant,p.Lys984Met,ENST00000401500,;WDR62,3_prime_UTR_variant,,ENST00000587391,;	2986	147	180	SUCCESS
ZNF585B	92285	.	GRCh37	19	37678065	37678065	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	81	0	ENST00000532828.2:c.374C>T	p.Ser125Phe	p.S125F	ENST00000532828	NM_152279.3	125	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS12500.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGAATAA	NONE	.	.	hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377	.	.	ENSP00000433773	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000532828	Transcript	.	.	ENSG00000245680	30948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.04)	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,missense_variant,p.Ser110Phe,ENST00000591492,;ZNF585B,missense_variant,p.Ser70Phe,ENST00000531805,;ZNF585B,missense_variant,p.Ser125Phe,ENST00000527838,;ZNF585B,missense_variant,p.Ser125Phe,ENST00000532828,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,upstream_gene_variant,,ENST00000312908,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	626	81	99	SUCCESS
WDR87	83889	.	GRCh37	19	38377640	38377640	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs541258135	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	83	0	ENST00000303868.5:c.6554A>G	p.Glu2185Gly	p.E2185G	ENST00000303868	NM_031951.3	2185	gAa/gGa	0	.	A:0	.	A:0	.	C	E/G	protein_coding	YES	CCDS46063.1	6554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCTATT	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg	A:0.003	.	ENSP00000368025	A:0	6/6	.	.	.	.	.	.	.	.	rs541258135	6/6	PASS	ENST00000303868	Transcript	.	A:0.0010	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	A:0.002	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Glu2224Gly,ENST00000447313,;WDR87,missense_variant,p.Glu2185Gly,ENST00000303868,;	6779	83	94	SUCCESS
WDR87	83889	.	GRCh37	19	38380578	38380578	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	88	0	ENST00000303868.5:c.3616A>G	p.Thr1206Ala	p.T1206A	ENST00000303868	NM_031951.3	1206	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS46063.1	3616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGTTTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Thr1245Ala,ENST00000447313,;WDR87,missense_variant,p.Thr1206Ala,ENST00000303868,;	3841	88	78	SUCCESS
RYR1	6261	.	GRCh37	19	39075613	39075613	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs118192150	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	52	117	0	ENST00000359596.3:c.14677C>T	p.Arg4893Trp	p.R4893W	ENST00000359596		4893	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33011.1	14677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided,pathogenic	GTGTCCGGGCT	NONE	byCluster	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF00520	.	.	ENSP00000352608	.	102/106	.	.	.	.	.	.	.	.	CM013432,rs118192150,RYR1:c.14677C>T	102/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0	.	11709545	benign(0.133)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Arg4888Trp,ENST00000355481,;RYR1,missense_variant,p.Arg4893Trp,ENST00000359596,;RYR1,missense_variant,p.Arg4888Trp,ENST00000360985,;MAP4K1,downstream_gene_variant,,ENST00000396857,;MAP4K1,downstream_gene_variant,,ENST00000589130,;MAP4K1,downstream_gene_variant,,ENST00000591517,;MAP4K1,downstream_gene_variant,,ENST00000586296,;MAP4K1,downstream_gene_variant,,ENST00000591921,;MAP4K1,downstream_gene_variant,,ENST00000593196,;MAP4K1,downstream_gene_variant,,ENST00000591210,;	14677	117	145	SUCCESS
ATCAY	85300	.	GRCh37	19	3907814	3907814	+	synonymous_variant	Silent	SNP	C	C	T	rs771736539	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	183	33	199	0	ENST00000450849.2:c.441C>T	p.Ser147=	p.S147=	ENST00000450849	NM_033064.4	147	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45923.1	441	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGCCGC	NONE	byFrequency	.	Pfam_domain:PF12496,hmmpanther:PTHR12112	.	.	ENSP00000390941	.	5/13	.	.	.	.	.	.	.	.	rs771736539,COSM3533513,COSM3533512	5/13	PASS	ENST00000450849	Transcript	1	.	ENSG00000167654	779	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	ATCAY_HUMAN	ATCAY	HGNC	M0R197_HUMAN	.	UPI000006DE3B	SNV	ATCAY,synonymous_variant,p.%3D,ENST00000398448,;ATCAY,synonymous_variant,p.%3D,ENST00000600960,;ATCAY,synonymous_variant,p.%3D,ENST00000301260,;ATCAY,synonymous_variant,p.%3D,ENST00000450849,;ATCAY,downstream_gene_variant,,ENST00000598136,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	908	199	216	SUCCESS
GMFG	9535	.	GRCh37	19	39819668	39819668	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	48	0	ENST00000597595.1:c.329G>A	p.Arg110Lys	p.R110K	ENST00000597595	NM_004877.2	110	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS12532.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCTGTTT	NONE	.	.	PROSITE_profiles:PS51263,hmmpanther:PTHR11249:SF4,hmmpanther:PTHR11249,Pfam_domain:PF00241,Gene3D:3.40.20.10,PIRSF_domain:PIRSF001788,SMART_domains:SM00102,Superfamily_domains:SSF55753	.	.	ENSP00000472249	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000597595	Transcript	.	.	ENSG00000130755	4374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(1)	.	GMFG_HUMAN	GMFG	HGNC	Q6IB37_HUMAN,M0R1D2_HUMAN,M0R0C1_HUMAN	.	UPI0000001631	SNV	GMFG,missense_variant,p.Arg110Lys,ENST00000598034,;GMFG,missense_variant,p.Arg77Lys,ENST00000253054,;GMFG,missense_variant,p.Arg110Lys,ENST00000597595,;GMFG,missense_variant,p.Arg61Lys,ENST00000602185,;GMFG,missense_variant,p.Arg69Lys,ENST00000601387,;GMFG,missense_variant,p.Arg77Lys,ENST00000600322,;GMFG,3_prime_UTR_variant,,ENST00000595636,;GMFG,intron_variant,,ENST00000594700,;GMFG,3_prime_UTR_variant,,ENST00000596583,;GMFG,3_prime_UTR_variant,,ENST00000601731,;GMFG,3_prime_UTR_variant,,ENST00000595207,;GMFG,downstream_gene_variant,,ENST00000598218,;	538	48	46	SUCCESS
ZNF526	116115	.	GRCh37	19	42729783	42729783	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	30	135	0	ENST00000301215.3:c.1228G>T	p.Ala410Ser	p.A410S	ENST00000301215	NM_133444.1	410	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS12598.1	1228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACGCCGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF104,hmmpanther:PTHR24375,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000301215	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301215	Transcript	.	.	ENSG00000167625	29415	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.33)	.	ZN526_HUMAN	ZNF526	HGNC	M0R395_HUMAN,H9ZYJ3_HUMAN	.	UPI00001C2011	SNV	ZNF526,missense_variant,p.Ala410Ser,ENST00000301215,;GSK3A,downstream_gene_variant,,ENST00000398249,;GSK3A,downstream_gene_variant,,ENST00000222330,;ZNF526,downstream_gene_variant,,ENST00000597945,;GSK3A,downstream_gene_variant,,ENST00000493059,;GSK3A,downstream_gene_variant,,ENST00000453535,;	1453	135	140	SUCCESS
ARHGAP35	2909	.	GRCh37	19	47423310	47423310	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	97	0	ENST00000404338.3:c.1378A>G	p.Met460Val	p.M460V	ENST00000404338	NM_004491.4	460	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS46127.1	1378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTATGAAT	NONE	.	.	PROSITE_profiles:PS51676,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26,SMART_domains:SM00441,Superfamily_domains:SSF81698	.	.	ENSP00000385720	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000404338	Transcript	.	.	ENSG00000160007	4591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	deleterious(0.02)	.	RHG35_HUMAN	ARHGAP35	HGNC	.	.	UPI0000163F71	SNV	ARHGAP35,missense_variant,p.Met460Val,ENST00000404338,;	1378	97	113	SUCCESS
EHD2	30846	.	GRCh37	19	48239730	48239730	+	synonymous_variant	Silent	SNP	G	G	A	rs536783884	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	18	109	0	ENST00000263277.3:c.1020G>A	p.Ala340=	p.A340=	ENST00000263277	NM_014601.3	340	gcG/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS12704.1	1020	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCGAAGAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216	A:0	.	ENSP00000263277	A:0	5/6	.	.	.	.	.	.	.	.	rs536783884,COSM1481280	5/6	common_in_exac	ENST00000263277	Transcript	.	A:0.0008	ENSG00000024422	3243	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0.0041	.	0,1	EHD2_HUMAN	EHD2	HGNC	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN	.	UPI0000071B66	SNV	EHD2,synonymous_variant,p.%3D,ENST00000538399,;EHD2,synonymous_variant,p.%3D,ENST00000263277,;CTD-2571L23.8,downstream_gene_variant,,ENST00000599924,;EHD2,non_coding_transcript_exon_variant,,ENST00000540884,;EHD2,downstream_gene_variant,,ENST00000602215,;EHD2,3_prime_UTR_variant,,ENST00000596225,;	1271	109	114	SUCCESS
LILRB1	10859	.	GRCh37	19	55147588	55147588	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	92	0	ENST00000324602.7:c.1654-357T>C		p.*552*	ENST00000324602	NM_001278399.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAATGGAAG	NONE	.	.	.	.	.	ENSP00000401812	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000456337	Transcript	.	.	ENSG00000224730	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC009892.10	Clone_based_vega_gene	F2Z374_HUMAN	.	UPI000155D56E	SNV	AC009892.10,intron_variant,,ENST00000456337,;LILRB1,intron_variant,,ENST00000396317,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396331,;LILRB1,intron_variant,,ENST00000396315,;LILRB1,intron_variant,,ENST00000427581,;LILRB1,intron_variant,,ENST00000396327,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000434867,;LILRB1,intron_variant,,ENST00000324602,;LILRB1,intron_variant,,ENST00000396332,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,intron_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	.	92	104	SUCCESS
PPP6R1	22870	.	GRCh37	19	55743228	55743228	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	45	0	ENST00000412770.2:c.2248C>G	p.Gln750Glu	p.Q750E	ENST00000412770	NM_014931.3	750	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS46186.1	2248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGGGCA	NONE	.	.	hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634	.	.	ENSP00000414202	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000412770	Transcript	.	.	ENSG00000105063	29195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.65)	.	PP6R1_HUMAN	PPP6R1	HGNC	Q96ID3_HUMAN,K7EM28_HUMAN	.	UPI0000202C6D	SNV	PPP6R1,missense_variant,p.Gln750Glu,ENST00000587283,;PPP6R1,missense_variant,p.Gln750Glu,ENST00000412770,;TMEM86B,upstream_gene_variant,,ENST00000327042,;AC010327.2,downstream_gene_variant,,ENST00000598855,;AC010327.1,upstream_gene_variant,,ENST00000581390,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000587457,;TMEM86B,upstream_gene_variant,,ENST00000589190,;PPP6R1,downstream_gene_variant,,ENST00000586690,;TMEM86B,upstream_gene_variant,,ENST00000585416,;TMEM86B,upstream_gene_variant,,ENST00000586923,;	2815	45	62	SUCCESS
MUC16	94025	.	GRCh37	19	9076752	9076752	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	27	171	0	ENST00000397910.4:c.10694A>T	p.Asp3565Val	p.D3565V	ENST00000397910	NM_024690.2	3565	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS54212.1	10694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTCCATG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Asp3565Val,ENST00000397910,;	10898	171	151	SUCCESS
MUC16	94025	.	GRCh37	19	9083709	9083709	+	synonymous_variant	Silent	SNP	T	T	G	rs780288059	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	55	0	ENST00000397910.4:c.8106A>C	p.Val2702=	p.V2702=	ENST00000397910	NM_024690.2	2702	gtA/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS54212.1	8106	MUTECT|MUSE	.	TTACTTACTGT	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	rs780288059	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	8310	55	83	SUCCESS
ACTG1P4	648740	.	GRCh37	1	104112621	104112621	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	19	0	ENST00000425123.1:n.447G>A		p.*149*	ENST00000425123				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS782.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGCATTG	NONE	.	.	.	.	.	ENSP00000354610	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361355	Transcript	.	.	ENSG00000240038	478	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMY2B_HUMAN	AMY2B	HGNC	C9JWK7_HUMAN,C9J2Z5_HUMAN	.	UPI0000000CB1	SNV	AMY2B,intron_variant,,ENST00000435302,;AMY2B,intron_variant,,ENST00000361355,;AMY2B,intron_variant,,ENST00000453959,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,intron_variant,,ENST00000477657,;ACTG1P4,non_coding_transcript_exon_variant,,ENST00000425123,;	.	19	23	SUCCESS
PRAMEF4	400735	.	GRCh37	1	12939708	12939708	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs767221681	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	50	0	ENST00000235349.5:c.1094T>G	p.Ile365Arg	p.I365R	ENST00000235349	NM_001009611.2	365	aTa/aGa	0	.	.	.	.	.	C	I/R	protein_coding	YES	CCDS30592.1	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTATGATG	BUFFER|p.Q368H|c.1104A>C|3	.	.	Superfamily_domains:SSF52047,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19	.	.	ENSP00000235349	.	4/4	.	.	.	.	.	.	.	.	rs767221681	4/4	PASS	ENST00000235349	Transcript	.	.	ENSG00000243073	31971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.42)	.	PRAM4_HUMAN	PRAMEF4	HGNC	.	.	UPI00001C1DA0	SNV	PRAMEF4,missense_variant,p.Ile365Arg,ENST00000235349,;	1165	50	23	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144886226	144886226	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs139542367	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	18	127	0	ENST00000369354.3:c.3008A>C	p.Gln1003Pro	p.Q1003P	ENST00000369354		1003	cAg/cCg	0	.	C:0	.	C:0	.	G	Q/P	protein_coding	YES	CCDS55627.1	3008	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGAAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	C:0	.	ENSP00000358363	C:0.001	23/44	.	.	.	.	.	.	.	.	rs139542367	23/44	PASS	ENST00000369356	Transcript	.	C:0.0002	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	C:0	tolerated(0.12)	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.Gln1003Pro,ENST00000369354,;PDE4DIP,missense_variant,p.Gln1140Pro,ENST00000369359,;PDE4DIP,missense_variant,p.Gln1140Pro,ENST00000530740,;PDE4DIP,missense_variant,p.Gln1069Pro,ENST00000313382,;PDE4DIP,missense_variant,p.Gln1003Pro,ENST00000369356,;PDE4DIP,downstream_gene_variant,,ENST00000491426,;PDE4DIP,downstream_gene_variant,,ENST00000369349,;PDE4DIP,downstream_gene_variant,,ENST00000313431,;PDE4DIP,upstream_gene_variant,,ENST00000530592,;PDE4DIP,downstream_gene_variant,,ENST00000369351,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,downstream_gene_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	3299	127	152	SUCCESS
BCL9	607	.	GRCh37	1	147091411	147091412	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	70	0	ENST00000234739.3:c.1452dup	p.Arg485GlufsTer39	p.R485Efs*39	ENST00000234739	NM_004326.3	484	agg/aGgg	0	.	.	.	.	.	G	R/RX	protein_coding	YES	CCDS30833.1	1450-1451	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5	.	.	ENSP00000234739	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000234739	Transcript	.	.	ENSG00000116128	1008	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BCL9_HUMAN	BCL9	HGNC	.	.	UPI000013C9B9	insertion	BCL9,frameshift_variant,p.Arg485GlufsTer39,ENST00000234739,;BCL9,downstream_gene_variant,,ENST00000473292,;	2190-2191	70	79	SUCCESS
RFX5	5993	.	GRCh37	1	151315082	151315082	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	13	81	0	ENST00000290524.4:c.1431G>A	p.Gly477=	p.G477=	ENST00000290524	NM_000449.3	477	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS994.1	1431	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCCCACT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF14621	.	.	ENSP00000290524	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000290524	Transcript	.	.	ENSG00000143390	9986	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFX5_HUMAN	RFX5	HGNC	Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN	.	UPI0000000E8B	SNV	RFX5,synonymous_variant,p.%3D,ENST00000392746,;RFX5,synonymous_variant,p.%3D,ENST00000452513,;RFX5,synonymous_variant,p.%3D,ENST00000452671,;RFX5,synonymous_variant,p.%3D,ENST00000368870,;RFX5,synonymous_variant,p.%3D,ENST00000290524,;RFX5,intron_variant,,ENST00000436637,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000450506,;RFX5,downstream_gene_variant,,ENST00000458484,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000436271,;RFX5,downstream_gene_variant,,ENST00000422595,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000469513,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000494217,;	1610	81	114	SUCCESS
TCHH	7062	.	GRCh37	1	152083480	152083480	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	48	0	ENST00000368804.1:c.2213A>T	p.Lys738Met	p.K738M	ENST00000368804	NM_007113.3	738	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS41396.1	2213	MUTECT|MUSE	.	GCCTCTTTTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Lys738Met,ENST00000368804,;	2213	48	83	SUCCESS
HRNR	388697	.	GRCh37	1	152188215	152188215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	897	25	696	0	ENST00000368801.2:c.5890T>A	p.Tyr1964Asn	p.Y1964N	ENST00000368801	NM_001009931.2	1964	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS30859.1	5890	MUTECT|MUSE	.	GCCGTAGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Tyr1964Asn,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	5966	696	922	SUCCESS
FLG	2312	.	GRCh37	1	152280916	152280916	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1161861110	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	20	82	0	ENST00000368799.1:c.6446G>A	p.Arg2149Lys	p.R2149K	ENST00000368799	NM_002016.1	2149	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS30860.1	6446	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCTTCCT	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.067)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Arg2149Lys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6482	82	149	SUCCESS
NTRK1	4914	.	GRCh37	1	156851354	156851354	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1324983370	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	22	135	0	ENST00000524377.1:c.2311C>T	p.Arg771Cys	p.R771C	ENST00000524377	NM_002529.3	771	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1161.1	2311	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAACGCCAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF133,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000431418	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000524377	Transcript	.	.	ENSG00000198400	8031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NTRK1_HUMAN	NTRK1	HGNC	.	.	UPI000013D5D3	SNV	NTRK1,missense_variant,p.Arg735Cys,ENST00000392302,;NTRK1,missense_variant,p.Arg768Cys,ENST00000358660,;NTRK1,missense_variant,p.Arg765Cys,ENST00000368196,;NTRK1,missense_variant,p.Arg771Cys,ENST00000524377,;NTRK1,non_coding_transcript_exon_variant,,ENST00000531606,;NTRK1,3_prime_UTR_variant,,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;	2352	135	184	SUCCESS
KIRREL	0	.	GRCh37	1	158061204	158061204	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	71	93	0	ENST00000359209.6:c.1329G>T	p.Val443=	p.V443=	ENST00000359209		443	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1172.2	1329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGGAGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,synonymous_variant,p.%3D,ENST00000360089,;KIRREL,synonymous_variant,p.%3D,ENST00000368173,;KIRREL,synonymous_variant,p.%3D,ENST00000368172,;KIRREL,synonymous_variant,p.%3D,ENST00000416935,;KIRREL,synonymous_variant,p.%3D,ENST00000359209,;KIRREL,synonymous_variant,p.%3D,ENST00000392272,;	1396	93	137	SUCCESS
ADAMTS4	9507	.	GRCh37	1	161163059	161163059	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs767653927	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	37	0	ENST00000367996.5:c.1855T>G	p.Cys619Gly	p.C619G	ENST00000367996	NM_005099.4	619	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS1223.1	1855	MUTECT|MUSE|VARSCANS	.	TTTGCACTGGT	NONE	.	.	hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723	.	.	ENSP00000356975	.	7/9	.	.	.	.	.	.	.	.	rs767653927	7/9	PASS	ENST00000367996	Transcript	.	.	ENSG00000158859	220	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ATS4_HUMAN	ADAMTS4	HGNC	.	.	UPI000014194C	SNV	ADAMTS4,missense_variant,p.Cys619Gly,ENST00000367996,;ADAMTS4,downstream_gene_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000496133,;ADAMTS4,downstream_gene_variant,,ENST00000478394,;NDUFS2,upstream_gene_variant,,ENST00000479948,;	2284	37	65	SUCCESS
UAP1	6675	.	GRCh37	1	162551100	162551100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	19	113	0	ENST00000271469.3:c.685G>A	p.Ala229Thr	p.A229T	ENST00000271469		229	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1240.1	685	RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGGCACTT	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF4	.	.	ENSP00000356903	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367926	Transcript	.	.	ENSG00000117143	12457	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UAP1_HUMAN	UAP1	HGNC	B1AR80_HUMAN	.	UPI0000112070	SNV	UAP1,missense_variant,p.Ala229Thr,ENST00000367925,;UAP1,missense_variant,p.Ala229Thr,ENST00000367926,;UAP1,missense_variant,p.Ala229Thr,ENST00000271469,;UAP1,missense_variant,p.Ala229Thr,ENST00000367924,;UAP1,upstream_gene_variant,,ENST00000474728,;	987	113	146	SUCCESS
RGS4	5999	.	GRCh37	1	163038944	163038944	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	17	68	0	ENST00000367909.6:c.-331T>A		p.*111*	ENST00000367909	NM_005613.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44270.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGTACATT	NONE	.	.	.	.	.	ENSP00000397181	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,5_prime_UTR_variant,,ENST00000367909,;RGS4,intron_variant,,ENST00000421743,;RGS4,upstream_gene_variant,,ENST00000367908,;RGS4,upstream_gene_variant,,ENST00000528938,;RGS4,upstream_gene_variant,,ENST00000531057,;RGS4,upstream_gene_variant,,ENST00000367906,;RGS4,upstream_gene_variant,,ENST00000527809,;RGS4,intron_variant,,ENST00000527393,;RGS4,upstream_gene_variant,,ENST00000491263,;RGS4,upstream_gene_variant,,ENST00000533019,;	.	68	122	SUCCESS
PBX1	5087	.	GRCh37	1	164776788	164776788	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	240	42	170	0	ENST00000420696.2:c.711A>G	p.Arg237=	p.R237=	ENST00000420696	NM_002585.3	237	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS1246.1	711	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGACGGAA	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58,PROSITE_profiles:PS50071	.	.	ENSP00000405890	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,synonymous_variant,p.%3D,ENST00000540236,;PBX1,synonymous_variant,p.%3D,ENST00000559240,;PBX1,synonymous_variant,p.%3D,ENST00000560641,;PBX1,synonymous_variant,p.%3D,ENST00000367897,;PBX1,synonymous_variant,p.%3D,ENST00000558837,;PBX1,synonymous_variant,p.%3D,ENST00000420696,;PBX1,synonymous_variant,p.%3D,ENST00000540246,;PBX1,synonymous_variant,p.%3D,ENST00000401534,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;	899	170	283	SUCCESS
TMCO1	54499	.	GRCh37	1	165738099	165738099	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	12	53	0	ENST00000392129.6:c.-111G>C		p.*37*	ENST00000392129	NM_019026.4	15		0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS1251.2	43	MUTECT|MUSE	.	CAGACCAACTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000356856	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000367881	Transcript	.	.	ENSG00000143183	18188	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious_low_confidence(0)	.	.	TMCO1	HGNC	J9JIE6_HUMAN,J3QQY2_HUMAN	.	UPI0000EE3C5A	SNV	TMCO1,missense_variant,p.Gly15Arg,ENST00000367881,;TMCO1,5_prime_UTR_variant,,ENST00000392129,;TMCO1,5_prime_UTR_variant,,ENST00000464650,;TMCO1,intron_variant,,ENST00000580248,;TMCO1,upstream_gene_variant,,ENST00000481278,;RP11-466F5.8,upstream_gene_variant,,ENST00000423121,;TMCO1,missense_variant,p.Gly10Arg,ENST00000476143,;TMCO1,missense_variant,p.Gly15Arg,ENST00000465705,;	319	53	79	SUCCESS
UCK2	7371	.	GRCh37	1	165865569	165865569	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	61	0	ENST00000367879.4:c.499G>A	p.Val167Ile	p.V167I	ENST00000367879	NM_012474.4	167	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1252.1	499	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGGTGCG	NONE	.	.	hmmpanther:PTHR10285,hmmpanther:PTHR10285:SF28,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00235,Pfam_domain:PF00485,Superfamily_domains:SSF52540,Prints_domain:PR00988	.	.	ENSP00000356853	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000367879	Transcript	.	.	ENSG00000143179	12562	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	tolerated(0.19)	.	UCK2_HUMAN	UCK2	HGNC	.	.	UPI000003AFFE	SNV	UCK2,missense_variant,p.Val167Ile,ENST00000367879,;UCK2,missense_variant,p.Val17Ile,ENST00000470820,;UCK2,missense_variant,p.Val17Ile,ENST00000469256,;UCK2,intron_variant,,ENST00000372212,;RP11-525G13.2,intron_variant,,ENST00000455257,;UCK2,splice_region_variant,,ENST00000464197,;UCK2,splice_region_variant,,ENST00000462329,;UCK2,upstream_gene_variant,,ENST00000463772,;	802	61	99	SUCCESS
MYOC	4653	.	GRCh37	1	171605162	171605162	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	15	97	0	ENST00000037502.6:c.1418A>T	p.Tyr473Phe	p.Y473F	ENST00000037502	NM_000261.1	473	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS1297.1	1418	MUTECT|MUSE|VARSCANS	.	TGCTGTACTTA	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF11,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000037502	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000037502	Transcript	.	.	ENSG00000034971	7610	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MYOC_HUMAN	MYOC	HGNC	B4DV60_HUMAN	.	UPI00000012D6	SNV	MYOC,missense_variant,p.Tyr473Phe,ENST00000037502,;	1490	97	153	SUCCESS
CROCC	9696	.	GRCh37	1	17296811	17296811	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs572688461	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	23	79	0	ENST00000375541.5:c.5515G>A	p.Glu1839Lys	p.E1839K	ENST00000375541	NM_014675.3	1839	Gag/Aag	0	.	C:0	.	C:0	.	A	E/K	protein_coding	YES	CCDS30616.1	5515	RADIA|MUTECT|MUSE|VARSCANS	.	AAGACGAGCGG	NONE	by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159	C:0	.	ENSP00000364691	C:0.001	34/37	.	.	.	.	.	.	.	.	rs572688461	34/37	PASS	ENST00000375541	Transcript	.	C:0.0002	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.502)	C:0	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Glu1839Lys,ENST00000375541,;MFAP2,downstream_gene_variant,,ENST00000438542,;MFAP2,downstream_gene_variant,,ENST00000375534,;MFAP2,downstream_gene_variant,,ENST00000375535,;CROCC,non_coding_transcript_exon_variant,,ENST00000465291,;CROCC,non_coding_transcript_exon_variant,,ENST00000465021,;MFAP2,downstream_gene_variant,,ENST00000490075,;	5584	79	141	SUCCESS
TNFSF4	7292	.	GRCh37	1	173176191	173176191	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	52	79	0	ENST00000281834.3:c.125A>C	p.Tyr42Ser	p.Y42S	ENST00000281834	NM_003326.3	42	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS1306.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGTAGGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR17534:SF4,hmmpanther:PTHR17534	.	.	ENSP00000281834	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000281834	Transcript	.	.	ENSG00000117586	11934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	deleterious(0)	.	TNFL4_HUMAN	TNFSF4	HGNC	.	.	UPI00001370A5	SNV	TNFSF4,missense_variant,p.Tyr42Ser,ENST00000281834,;TNFSF4,upstream_gene_variant,,ENST00000367718,;TNFSF4,upstream_gene_variant,,ENST00000488053,;	262	79	100	SUCCESS
ZBTB37	84614	.	GRCh37	1	173839522	173839522	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	25	128	0	ENST00000367701.5:c.159C>G	p.Ser53Arg	p.S53R	ENST00000367701		53	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS44278.1	159	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCTCCCC	NONE	.	.	PROSITE_profiles:PS50097,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000356674	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000367701	Transcript	.	.	ENSG00000185278	28365	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	ZBT37_HUMAN	ZBTB37	HGNC	.	.	UPI0000203C09	SNV	ZBTB37,missense_variant,p.Ser53Arg,ENST00000367702,;ZBTB37,missense_variant,p.Ser53Arg,ENST00000427304,;ZBTB37,missense_variant,p.Ser53Arg,ENST00000367704,;ZBTB37,missense_variant,p.Ser53Arg,ENST00000432989,;ZBTB37,missense_variant,p.Ser53Arg,ENST00000367701,;SNORD78,upstream_gene_variant,,ENST00000385582,;GAS5,upstream_gene_variant,,ENST00000432536,;GAS5,upstream_gene_variant,,ENST00000363859,;GAS5,upstream_gene_variant,,ENST00000430245,;GAS5,upstream_gene_variant,,ENST00000454068,;GAS5,upstream_gene_variant,,ENST00000385578,;GAS5,upstream_gene_variant,,ENST00000449289,;GAS5,upstream_gene_variant,,ENST00000363146,;GAS5,upstream_gene_variant,,ENST00000414075,;GAS5,upstream_gene_variant,,ENST00000364084,;GAS5,upstream_gene_variant,,ENST00000451607,;GAS5,upstream_gene_variant,,ENST00000452197,;GAS5,upstream_gene_variant,,ENST00000450589,;GAS5,upstream_gene_variant,,ENST00000425771,;GAS5,upstream_gene_variant,,ENST00000448718,;GAS5,upstream_gene_variant,,ENST00000431268,;GAS5,upstream_gene_variant,,ENST00000412059,;GAS5,upstream_gene_variant,,ENST00000455838,;GAS5,upstream_gene_variant,,ENST00000436656,;GAS5,upstream_gene_variant,,ENST00000456812,;GAS5,upstream_gene_variant,,ENST00000456293,;GAS5,upstream_gene_variant,,ENST00000421068,;GAS5,upstream_gene_variant,,ENST00000442067,;GAS5,upstream_gene_variant,,ENST00000436285,;GAS5,upstream_gene_variant,,ENST00000422183,;GAS5,upstream_gene_variant,,ENST00000449589,;GAS5,upstream_gene_variant,,ENST00000416952,;GAS5,upstream_gene_variant,,ENST00000458220,;GAS5,upstream_gene_variant,,ENST00000422008,;GAS5,upstream_gene_variant,,ENST00000443799,;	350	128	196	SUCCESS
TOR1AIP2	163590	.	GRCh37	1	179815788	179815788	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	89	0	ENST00000367612.3:c.831A>T	p.Gly277=	p.G277=	ENST00000367612	NM_145034.4	277	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1334.1	831	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGTCCTCT	NONE	.	.	Pfam_domain:PF05609,hmmpanther:PTHR18843:SF2,hmmpanther:PTHR18843	.	.	ENSP00000356584	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000367612	Transcript	.	.	ENSG00000169905	24055	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TOIP2_HUMAN	TOR1AIP2	HGNC	.	.	UPI00000711A4	SNV	TOR1AIP2,synonymous_variant,p.%3D,ENST00000609928,;TOR1AIP2,synonymous_variant,p.%3D,ENST00000367612,;	1219	89	94	SUCCESS
FAM129A	0	.	GRCh37	1	184764664	184764664	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	57	0	ENST00000367511.3:c.2234A>T	p.Glu745Val	p.E745V	ENST00000367511	NM_052966.3	745	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS1364.1	2234	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTCATTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14392:SF3,hmmpanther:PTHR14392	.	.	ENSP00000356481	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000367511	Transcript	.	.	ENSG00000135842	16784	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.161)	.	deleterious_low_confidence(0.03)	.	NIBAN_HUMAN	FAM129A	HGNC	.	.	UPI00000375B3	SNV	FAM129A,missense_variant,p.Glu745Val,ENST00000367511,;FAM129A,intron_variant,,ENST00000417056,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;	2428	57	81	SUCCESS
TMCC2	9911	.	GRCh37	1	205197574	205197574	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	38	0	ENST00000358024.3:c.-119A>G		p.*40*	ENST00000358024	NM_014858.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30984.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCATCTCC	NONE	.	.	.	.	.	ENSP00000350718	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000358024	Transcript	.	.	ENSG00000133069	24239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMCC2_HUMAN	TMCC2	HGNC	.	.	UPI00002056FC	SNV	TMCC2,5_prime_UTR_variant,,ENST00000358024,;TMCC2,upstream_gene_variant,,ENST00000545499,;TMCC2,upstream_gene_variant,,ENST00000495538,;	271	38	60	SUCCESS
SERTAD4	56256	.	GRCh37	1	210414923	210414923	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	17	80	0	ENST00000367012.3:c.312A>G	p.Glu104=	p.E104=	ENST00000367012	NM_019605.3	104	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1494.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAACGAGC	NONE	.	.	PROSITE_profiles:PS51053,hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3	.	.	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,synonymous_variant,p.%3D,ENST00000367012,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;	542	80	131	SUCCESS
CENPF	1063	.	GRCh37	1	214814115	214814115	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	32	143	0	ENST00000366955.3:c.2434A>C	p.Ser812Arg	p.S812R	ENST00000366955	NM_016343.3	812	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS31023.1	2434	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGAGTGAA	NONE	.	.	hmmpanther:PTHR18874	.	.	ENSP00000355922	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.483)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Ser812Arg,ENST00000366955,;	2602	143	238	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220364508	220364508	+	synonymous_variant	Silent	SNP	T	T	C	rs149874983	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	20	99	0	ENST00000358951.2:c.1389A>G	p.Gln463=	p.Q463=	ENST00000358951	NM_012414.3	463	caA/caG	0	G:0.0002	.	.	.	.	C	Q	protein_coding	YES	CCDS31028.1	1389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATTGAGC	NONE	byCluster	.	Pfam_domain:PF14655,hmmpanther:PTHR12472	.	G:0	ENSP00000351832	.	14/35	.	.	.	.	.	.	.	.	rs149874983	14/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,synonymous_variant,p.%3D,ENST00000358951,;RAB3GAP2,intron_variant,,ENST00000478976,;	1506	99	137	SUCCESS
EPHX1	2052	.	GRCh37	1	226030084	226030084	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	45	0	ENST00000272167.5:c.949T>A	p.Ser317Thr	p.S317T	ENST00000272167	NM_001136018.2	317	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1547.1	949	RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTCTCCT	NONE	.	.	hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF10,Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF001112,Superfamily_domains:SSF53474	.	.	ENSP00000355802	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000366837	Transcript	.	.	ENSG00000143819	3401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	HYEP_HUMAN	EPHX1	HGNC	R4SBI6_HUMAN,B1AQP9_HUMAN,B1AQP8_HUMAN	.	UPI000012CFF2	SNV	EPHX1,missense_variant,p.Ser317Thr,ENST00000366837,;EPHX1,missense_variant,p.Ser317Thr,ENST00000272167,;TMEM63A,downstream_gene_variant,,ENST00000366835,;EPHX1,downstream_gene_variant,,ENST00000448202,;EPHX1,downstream_gene_variant,,ENST00000445856,;RP11-285F7.2,intron_variant,,ENST00000424332,;TMEM63A,downstream_gene_variant,,ENST00000496025,;TMEM63A,downstream_gene_variant,,ENST00000482753,;	1145	45	68	SUCCESS
PLD5	200150	.	GRCh37	1	242511470	242511470	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs374810811	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	38	0	ENST00000442594.2:c.-20C>T		p.*7*	ENST00000442594	NM_152666.2	88		0	A:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS1621.2	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGGCTGA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185	.	A:0	ENSP00000440896	.	2/10	.	.	.	.	.	.	.	.	rs374810811	2/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,synonymous_variant,p.%3D,ENST00000536534,;PLD5,synonymous_variant,p.%3D,ENST00000427495,;PLD5,synonymous_variant,p.%3D,ENST00000459864,;PLD5,5_prime_UTR_variant,,ENST00000442594,;PLD5,synonymous_variant,p.%3D,ENST00000366545,;PLD5,synonymous_variant,p.%3D,ENST00000314833,;PLD5,synonymous_variant,p.%3D,ENST00000467561,;RP11-513D4.3,downstream_gene_variant,,ENST00000447710,;	506	38	59	SUCCESS
ZBTB18	10472	.	GRCh37	1	244217368	244217368	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	71	0	ENST00000358704.4:c.292T>C	p.Phe98Leu	p.F98L	ENST00000358704	NM_205768.2	98	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1622.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTTCAAA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.425)	.	tolerated(0.52)	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,missense_variant,p.Phe98Leu,ENST00000358704,;	441	71	108	SUCCESS
TRIM58	25893	.	GRCh37	1	248039449	248039449	+	synonymous_variant	Silent	SNP	C	C	T	rs759619059	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	19	105	0	ENST00000366481.3:c.1119C>T	p.Thr373=	p.T373=	ENST00000366481	NM_015431.3	373	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1636.1	1119	RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCACGCC	BUFFER|p.E372K|c.1114G>A|5,BUFFER|p.T374M|c.1121C>T|3	byFrequency	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000355437	.	6/6	.	.	.	.	.	.	.	.	rs759619059	6/6	PASS	ENST00000366481	Transcript	.	.	ENSG00000162722	24150	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI58_HUMAN	TRIM58	HGNC	.	.	UPI000020590E	SNV	TRIM58,synonymous_variant,p.%3D,ENST00000366481,;OR2W3,intron_variant,,ENST00000537741,;	1167	105	154	SUCCESS
WDR65	0	.	GRCh37	1	43638006	43638006	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1330412613	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	60	0	ENST00000372492.4:c.-138C>T		p.*46*	ENST00000372492	NM_001195831.2	29		0	.	.	.	.	.	T	P	protein_coding	YES	CCDS53308.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCGGTTT	NONE	.	.	.	.	.	ENSP00000407323	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000431635	Transcript	.	.	ENSG00000117395	15531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EBNA1BP2	HGNC	Q6IB29_HUMAN,H7C2Q8_HUMAN	.	UPI0000204E6D	SNV	EBNA1BP2,synonymous_variant,p.%3D,ENST00000431635,;WDR65,5_prime_UTR_variant,,ENST00000528956,;WDR65,5_prime_UTR_variant,,ENST00000372492,;WDR65,upstream_gene_variant,,ENST00000529956,;EBNA1BP2,upstream_gene_variant,,ENST00000236051,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000461557,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000491223,;EBNA1BP2,upstream_gene_variant,,ENST00000463906,;EBNA1BP2,upstream_gene_variant,,ENST00000483082,;EBNA1BP2,upstream_gene_variant,,ENST00000472982,;WDR65,upstream_gene_variant,,ENST00000533339,;WDR65,upstream_gene_variant,,ENST00000525227,;	236	60	55	SUCCESS
USP1	7398	.	GRCh37	1	62916046	62916046	+	synonymous_variant	Silent	SNP	T	T	C	rs778169167	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	6	209	0	ENST00000339950.4:c.1752T>C	p.His584=	p.H584=	ENST00000339950	NM_003368.4	584	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS621.1	1752	MUTECT|MUSE	.	ATGCATAGTGG	NONE	byCluster	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,PROSITE_patterns:PS00973,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378,PROSITE_profiles:PS50235	.	.	ENSP00000343526	.	9/9	.	.	.	.	.	.	.	.	rs778169167	9/9	PASS	ENST00000339950	Transcript	.	.	ENSG00000162607	12607	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP1_HUMAN	USP1	HGNC	C9JWX4_HUMAN,C9JC88_HUMAN	.	UPI00001379D4	SNV	USP1,synonymous_variant,p.%3D,ENST00000371146,;USP1,synonymous_variant,p.%3D,ENST00000339950,;DOCK7,downstream_gene_variant,,ENST00000251157,;DOCK7,downstream_gene_variant,,ENST00000340370,;DOCK7,downstream_gene_variant,,ENST00000454575,;	2567	209	178	SUCCESS
COL24A1	255631	.	GRCh37	1	86289219	86289219	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	142	0	ENST00000370571.2:c.3789A>G		p.X1263_splice	ENST00000370571	NM_152890.5	1263	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS41353.1	3789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACTTCAGA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,Pfam_domain:PF01391	.	.	ENSP00000359603	.	45/60	.	.	.	.	.	.	.	.	.	45/60	PASS	ENST00000370571	Transcript	.	.	ENSG00000171502	20821	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COOA1_HUMAN	COL24A1	HGNC	E9PNK8_HUMAN	.	UPI000013E81F	SNV	COL24A1,synonymous_variant,p.%3D,ENST00000436319,;COL24A1,synonymous_variant,p.%3D,ENST00000370571,;COL24A1,splice_region_variant,,ENST00000426639,;	4156	142	126	SUCCESS
DPYD	1806	.	GRCh37	1	98015267	98015267	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	74	0	ENST00000370192.3:c.1373G>A	p.Arg458Lys	p.R458K	ENST00000370192	NM_000110.3	458	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS30777.1	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCTGTTA	NONE	.	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Gene3D:3.50.50.60,Superfamily_domains:SSF51971	.	.	ENSP00000359211	.	12/23	.	.	.	.	.	.	.	.	COSM682599	12/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated(0.64)	1	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Arg458Lys,ENST00000370192,;SEC63P1,downstream_gene_variant,,ENST00000425785,;	1474	74	62	SUCCESS
LPPR5	0	.	GRCh37	1	99470238	99470238	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	101	0	ENST00000263177.4:c.-11G>A		p.*4*	ENST00000263177	NM_001037317.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30778.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGGGCC	NONE	.	.	.	.	.	ENSP00000263177	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000263177	Transcript	.	.	ENSG00000117598	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LPPR5_HUMAN	LPPR5	Uniprot_gn	.	.	UPI0000048D53	SNV	LPPR5,5_prime_UTR_variant,,ENST00000263177,;LPPR5,5_prime_UTR_variant,,ENST00000370188,;RP5-896L10.1,intron_variant,,ENST00000425113,;LPPR5,upstream_gene_variant,,ENST00000534652,;RP11-234N17.1,upstream_gene_variant,,ENST00000457507,;	212	101	71	SUCCESS
TMC2	117532	.	GRCh37	20	2593864	2593864	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767021450	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	79	0	ENST00000358864.1:c.1768G>A	p.Asp590Asn	p.D590N	ENST00000358864	NM_080751.2	590	Gac/Aac	0	-:0.0002	.	.	.	.	A	D/N	protein_coding	YES	CCDS13029.2	1768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGACATG	NONE	byFrequency	.	Pfam_domain:PF07810,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17	.	-:0.0002	ENSP00000351732	.	14/20	.	.	.	.	.	.	.	.	rs759660856,rs767021450	14/20	PASS	ENST00000358864	Transcript	.	.	ENSG00000149488	16527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMC2_HUMAN	TMC2	HGNC	.	.	UPI0000246C98	SNV	TMC2,missense_variant,p.Asp590Asn,ENST00000358864,;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	1783	79	114	SUCCESS
ID1	3397	.	GRCh37	20	30193892	30193892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	33	0	ENST00000376112.3:c.463C>A	p.Arg155Ser	p.R155S	ENST00000376112	NM_002165.3	155	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS13185.1	463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCGCTGA	NONE	.	.	hmmpanther:PTHR11723,hmmpanther:PTHR11723:SF4	.	.	ENSP00000365280	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376112	Transcript	.	.	ENSG00000125968	5360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	deleterious(0)	.	ID1_HUMAN	ID1	HGNC	.	.	UPI000012D18F	SNV	ID1,missense_variant,p.Arg155Ser,ENST00000376112,;ID1,3_prime_UTR_variant,,ENST00000376105,;MIR3193,upstream_gene_variant,,ENST00000578262,;	568	33	60	SUCCESS
PLCG1	5335	.	GRCh37	20	39802780	39802780	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	37	0	ENST00000373271.1:c.3659T>G	p.Leu1220Arg	p.L1220R	ENST00000373271	NM_182811.1	1220	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS13313.1	3662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTCAGTC	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,PIRSF_domain:PIRSF000952	.	.	ENSP00000362369	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000373272	Transcript	.	.	ENSG00000124181	9065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	deleterious(0.02)	.	PLCG1_HUMAN	PLCG1	HGNC	.	.	UPI00001B94DD	SNV	PLCG1,missense_variant,p.Leu1221Arg,ENST00000373272,;PLCG1,missense_variant,p.Leu1221Arg,ENST00000244007,;PLCG1,missense_variant,p.Leu1220Arg,ENST00000373271,;ZHX3,downstream_gene_variant,,ENST00000540170,;ZHX3,downstream_gene_variant,,ENST00000309060,;ZHX3,downstream_gene_variant,,ENST00000421422,;PLCG1,non_coding_transcript_exon_variant,,ENST00000609821,;PLCG1,non_coding_transcript_exon_variant,,ENST00000608689,;PLCG1,missense_variant,p.Leu63Arg,ENST00000609257,;PLCG1,missense_variant,p.Leu38Arg,ENST00000607954,;PLCG1,non_coding_transcript_exon_variant,,ENST00000461641,;PLCG1,intron_variant,,ENST00000608885,;PLCG1,intron_variant,,ENST00000599785,;PLCG1,downstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000477870,;	4067	37	60	SUCCESS
FERMT1	55612	.	GRCh37	20	6100146	6100146	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1372798358	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	92	0	ENST00000217289.4:c.56A>G	p.Asp19Gly	p.D19G	ENST00000217289	NM_017671.4	19	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS13098.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTCAACG	NONE	.	.	hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160	.	.	ENSP00000217289	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000217289	Transcript	1	.	ENSG00000101311	15889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	tolerated(0.39)	.	FERM1_HUMAN	FERMT1	HGNC	Q5JWV4_HUMAN,G3V1L6_HUMAN	.	UPI00001285DD	SNV	FERMT1,missense_variant,p.Asp19Gly,ENST00000378844,;FERMT1,missense_variant,p.Asp19Gly,ENST00000217289,;FERMT1,5_prime_UTR_variant,,ENST00000536936,;	845	92	126	SUCCESS
TPTE	7179	.	GRCh37	21	10933910	10933910	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	873	66	890	0	ENST00000361285.4:c.969T>G	p.Asn323Lys	p.N323K	ENST00000361285	NM_199261.2	323	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS13560.2	969	MUTECT|MUSE	.	CACTCATTTAC	NONE	.	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,Superfamily_domains:SSF52799	.	.	ENSP00000355208	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.86)	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Asn323Lys,ENST00000361285,;TPTE,missense_variant,p.Asn285Lys,ENST00000342420,;TPTE,missense_variant,p.Asn305Lys,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;CYCSP41,downstream_gene_variant,,ENST00000451532,;	1299	890	939	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19715849	19715849	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	73	176	0	ENST00000284885.3:c.1402A>T	p.Thr468Ser	p.T468S	ENST00000284885	NM_002772.2	468	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS13571.1	1402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGTTACTT	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000284885	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,missense_variant,p.Thr468Ser,ENST00000284885,;	1436	176	216	SUCCESS
NCAM2	4685	.	GRCh37	21	22906918	22906918	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	139	0	ENST00000400546.1:c.2343T>A	p.Asn781Lys	p.N781K	ENST00000400546	NM_004540.3	781	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS42910.1	2343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAATCACGA	NONE	.	.	hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489	.	.	ENSP00000383392	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0)	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,missense_variant,p.Asn781Lys,ENST00000400546,;NCAM2,missense_variant,p.Asn639Lys,ENST00000284894,;	2592	139	117	SUCCESS
KRTAP20-4	100151643	.	GRCh37	21	31993016	31993016	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866921707	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	125	0	ENST00000382828.2:c.40G>A	p.Gly14Ser	p.G14S	ENST00000382828		14	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	.	40	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGCTTG	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000372278	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382828	Transcript	.	.	ENSG00000206105	34002	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	.	.	KR204_HUMAN	KRTAP20-4	HGNC	.	.	UPI00005C50F8	SNV	KRTAP20-4,missense_variant,p.Gly14Ser,ENST00000382828,;KRTAP20-1,downstream_gene_variant,,ENST00000334664,;	71	125	101	SUCCESS
HUNK	30811	.	GRCh37	21	33370991	33370991	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	89	0	ENST00000270112.2:c.1639A>T	p.Ile547Phe	p.I547F	ENST00000270112	NM_014586.1	547	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS13610.1	1639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCATCCCC	NONE	.	.	hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343	.	.	ENSP00000270112	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000270112	Transcript	.	.	ENSG00000142149	13326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated_low_confidence(0.73)	.	HUNK_HUMAN	HUNK	HGNC	.	.	UPI0000035B66	SNV	HUNK,missense_variant,p.Ile547Phe,ENST00000270112,;HUNK,intron_variant,,ENST00000439107,;HUNK,downstream_gene_variant,,ENST00000465574,;	1999	89	79	SUCCESS
DYRK1A	1859	.	GRCh37	21	38850602	38850602	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	88	0	ENST00000398960.2:c.327G>C	p.Glu109Asp	p.E109D	ENST00000398960	NM_001396.3	109	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS42925.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAGGTAAG	NONE	.	.	hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058	.	.	ENSP00000381932	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	deleterious(0.03)	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,missense_variant,p.Glu109Asp,ENST00000451934,;DYRK1A,missense_variant,p.Glu100Asp,ENST00000339659,;DYRK1A,missense_variant,p.Glu109Asp,ENST00000398956,;DYRK1A,missense_variant,p.Glu109Asp,ENST00000398960,;DYRK1A,missense_variant,p.Glu109Asp,ENST00000426672,;DYRK1A,missense_variant,p.Glu109Asp,ENST00000338785,;DYRK1A,missense_variant,p.Glu109Asp,ENST00000321219,;DYRK1A,splice_region_variant,,ENST00000462274,;	402	88	68	SUCCESS
HSF2BP	11077	.	GRCh37	21	45076519	45076519	+	synonymous_variant	Silent	SNP	G	G	A	rs1459284825	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	95	0	ENST00000291560.2:c.136C>T	p.Leu46=	p.L46=	ENST00000291560	NM_007031.1	46	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13697.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAGTATTC	NONE	.	.	hmmpanther:PTHR15434,hmmpanther:PTHR15434:SF1	.	.	ENSP00000291560	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000291560	Transcript	.	.	ENSG00000160207	5226	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSF2B_HUMAN	HSF2BP	HGNC	Q6IAT7_HUMAN,B4DX36_HUMAN	.	UPI000012C321	SNV	HSF2BP,synonymous_variant,p.%3D,ENST00000443485,;HSF2BP,synonymous_variant,p.%3D,ENST00000291560,;HSF2BP,intron_variant,,ENST00000542962,;RRP1B,upstream_gene_variant,,ENST00000340648,;	468	95	82	SUCCESS
KRTAP10-9	386676	.	GRCh37	21	46047944	46047944	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	49	0	ENST00000397911.3:c.856T>A	p.Ser286Thr	p.S286T	ENST00000397911	NM_198690.2	286	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS42961.1	856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTCAGGC	NONE	.	.	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18	.	.	ENSP00000381009	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000397911	Transcript	.	.	ENSG00000221837	22971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	tolerated(0.07)	.	KR109_HUMAN	KRTAP10-9	HGNC	.	.	UPI000036709D	SNV	KRTAP10-9,missense_variant,p.Ser286Thr,ENST00000397911,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-9,intron_variant,,ENST00000484861,;	905	49	46	SUCCESS
SPATC1L	84221	.	GRCh37	21	47602716	47602716	+	synonymous_variant	Silent	SNP	G	G	A	rs1013458020	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	64	0	ENST00000291672.5:c.15C>T	p.Gly5=	p.G5=	ENST00000291672	NM_001142854.1	5	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46653.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCGCCGCC	NONE	.	.	hmmpanther:PTHR22192:SF1,hmmpanther:PTHR22192	.	.	ENSP00000291672	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000291672	Transcript	.	.	ENSG00000160284	1298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPC1L_HUMAN	SPATC1L	HGNC	.	.	UPI000013E06B	SNV	SPATC1L,synonymous_variant,p.%3D,ENST00000291672,;SPATC1L,intron_variant,,ENST00000330205,;AP001468.58,upstream_gene_variant,,ENST00000415026,;	1077	64	44	SUCCESS
HSFY1P1	27437	.	GRCh37	22	17308725	17308725	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	29	0	ENST00000425038.1:n.362T>C		p.*121*	ENST00000425038				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAATTCATA	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000425038	Transcript	.	.	ENSG00000229027	1846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSFY1P1	HGNC	.	.	.	SNV	HSFY1P1,non_coding_transcript_exon_variant,,ENST00000425038,;HSFY1P1,non_coding_transcript_exon_variant,,ENST00000423928,;	362	29	25	SUCCESS
GAB4	128954	.	GRCh37	22	17472883	17472883	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	18	105	0	ENST00000400588.1:c.358A>G	p.Met120Val	p.M120V	ENST00000400588	NM_001037814.1	120	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS42976.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACATATAGC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12156:SF20,hmmpanther:PTHR12156,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000383431	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000400588	Transcript	.	.	ENSG00000215568	18325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.22)	.	tolerated(1)	.	GAB4_HUMAN	GAB4	HGNC	.	.	UPI00002326B5	SNV	GAB4,missense_variant,p.Met120Val,ENST00000400588,;GAB4,non_coding_transcript_exon_variant,,ENST00000523144,;GAB4,missense_variant,p.Met82Val,ENST00000465611,;	466	105	105	SUCCESS
IGLV4-69	28784	.	GRCh37	22	22385730	22385730	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	23	146	0	ENST00000390282.2:c.219T>C	p.Asp73=	p.D73=	ENST00000390282		73	gaT/gaC	0	.	.	.	.	.	C	D	IG_V_gene	YES	.	219	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGGCAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF9,PROSITE_profiles:PS50835	.	.	ENSP00000374817	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390282	Transcript	.	.	ENSG00000211637	5921	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGLV4-69	HGNC	Q5NV92_HUMAN	.	UPI0000F30329	SNV	IGLV4-69,synonymous_variant,p.%3D,ENST00000390282,;PRAMENP,intron_variant,,ENST00000337471,;PRAMENP,intron_variant,,ENST00000419303,;PRAMENP,intron_variant,,ENST00000546598,;IGLVI-68,upstream_gene_variant,,ENST00000519525,;IGLVI-70,downstream_gene_variant,,ENST00000523272,;	279	146	159	SUCCESS
PES1	23481	.	GRCh37	22	30977601	30977601	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768769843	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	67	0	ENST00000354694.7:c.661G>C	p.Ala221Pro	p.A221P	ENST00000354694	NM_014303.3	221	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS13880.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCATGA	NONE	.	.	HAMAP:MF_03028,hmmpanther:PTHR12221,Pfam_domain:PF06732	.	.	ENSP00000346725	.	7/15	.	.	.	.	.	.	.	.	rs768769843	7/15	PASS	ENST00000354694	Transcript	.	.	ENSG00000100029	8848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	PESC_HUMAN	PES1	HGNC	B3KXD6_HUMAN,B2RDF2_HUMAN	.	UPI0000001618	SNV	PES1,missense_variant,p.Ala82Pro,ENST00000405677,;PES1,missense_variant,p.Ala204Pro,ENST00000402284,;PES1,missense_variant,p.Ala221Pro,ENST00000354694,;PES1,missense_variant,p.Ala82Pro,ENST00000402281,;PES1,missense_variant,p.Ala221Pro,ENST00000335214,;PES1,upstream_gene_variant,,ENST00000441668,;PES1,downstream_gene_variant,,ENST00000433575,;PES1,3_prime_UTR_variant,,ENST00000406208,;PES1,downstream_gene_variant,,ENST00000477762,;PES1,upstream_gene_variant,,ENST00000488719,;	768	67	76	SUCCESS
FAM19A5	0	.	GRCh37	22	48940651	48940651	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	53	0	ENST00000402357.1:c.112+55135T>A		p.*38*	ENST00000402357	NM_001082967.1	53		0	.	.	.	.	.	A	E/V	protein_coding	YES	.	158	RADIA|MUSE	.	CTGCCTCTGAG	NONE	.	.	.	.	.	ENSP00000384340	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000407505	Transcript	.	.	ENSG00000219016	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.617)	.	.	.	.	CTA-299D3.8	Clone_based_vega_gene	A6ZJ83_HUMAN	.	UPI0000161175	SNV	CTA-299D3.8,missense_variant,p.Glu53Val,ENST00000407505,;FAM19A5,intron_variant,,ENST00000402357,;FAM19A5,intron_variant,,ENST00000336769,;CTA-299D3.8,intron_variant,,ENST00000467207,;CTA-299D3.8,non_coding_transcript_exon_variant,,ENST00000463107,;	692	53	66	SUCCESS
TBC1D8	11138	.	GRCh37	2	101650198	101650198	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	21	109	0	ENST00000376840.4:c.1581A>G	p.Ser527=	p.S527=	ENST00000376840		527	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS46375.1	1581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGTGAGGC	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000366036	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000376840	Transcript	.	.	ENSG00000204634	17791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCD8_HUMAN	TBC1D8	HGNC	.	.	UPI00015ADD19	SNV	TBC1D8,synonymous_variant,p.%3D,ENST00000376840,;TBC1D8,synonymous_variant,p.%3D,ENST00000409318,;TBC1D8,upstream_gene_variant,,ENST00000481317,;TBC1D8,upstream_gene_variant,,ENST00000473937,;TBC1D8,upstream_gene_variant,,ENST00000485875,;	1581	109	101	SUCCESS
RANBP2	5903	.	GRCh37	2	109384438	109384438	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	86	0	ENST00000283195.6:c.7443T>C	p.Asp2481=	p.D2481=	ENST00000283195	NM_006267.4	2481	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS2079.1	7443	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATGTTAT	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,synonymous_variant,p.%3D,ENST00000283195,;	7569	86	115	SUCCESS
GREB1	9687	.	GRCh37	2	11777860	11777860	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs553020411	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	36	0	ENST00000234142.5:c.5365G>T	p.Ala1789Ser	p.A1789S	ENST00000234142		1789	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42655.1	5365	MUTECT|MUSE	.	CTGCCGCGGTC	NONE	byCluster	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	31/33	.	.	.	.	.	.	.	.	rs553020411,COSM1005835	31/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.518)	.	tolerated(0.59)	0,1	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Ala1789Ser,ENST00000234142,;GREB1,missense_variant,p.Ala787Ser,ENST00000396123,;GREB1,missense_variant,p.Ala1789Ser,ENST00000381486,;	5665	36	44	SUCCESS
NBAS	51594	.	GRCh37	2	15676636	15676636	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	45	0	ENST00000281513.5:c.553G>A	p.Gly185Arg	p.G185R	ENST00000281513	NM_015909.3	185	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1685.1	553	MUTECT|MUSE	.	CAACCCAGCAA	NONE	.	.	Superfamily_domains:SSF50969,Pfam_domain:PF15492,hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Gly185Arg,ENST00000441750,;NBAS,missense_variant,p.Gly185Arg,ENST00000281513,;	579	45	73	SUCCESS
SCN2A	6326	.	GRCh37	2	166243456	166243456	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	16	90	0	ENST00000283256.6:c.4752T>C	p.Ser1584=	p.S1584=	ENST00000283256	NM_021007.2	1584	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS33313.1	4752	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTCTTCG	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000349973	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,synonymous_variant,p.%3D,ENST00000283256,;SCN2A,synonymous_variant,p.%3D,ENST00000375437,;SCN2A,synonymous_variant,p.%3D,ENST00000375427,;SCN2A,synonymous_variant,p.%3D,ENST00000357398,;	5042	90	169	SUCCESS
GALNT3	2591	.	GRCh37	2	166605296	166605296	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	53	43	0	ENST00000392701.3:c.1897G>C	p.Asp633His	p.D633H	ENST00000392701	NM_004482.3	633	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS2226.1	1897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATCATTTT	NONE	.	.	hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675	.	.	ENSP00000376465	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000392701	Transcript	.	.	ENSG00000115339	4125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.241)	.	deleterious_low_confidence(0.02)	.	GALT3_HUMAN	GALNT3	HGNC	C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN	.	UPI000013C989	SNV	GALNT3,missense_variant,p.Asp371His,ENST00000409882,;GALNT3,missense_variant,p.Asp633His,ENST00000392701,;	2673	43	82	SUCCESS
AGPS	8540	.	GRCh37	2	178257498	178257498	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	50	0	ENST00000264167.4:c.-20G>C		p.*7*	ENST00000264167	NM_003659.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2275.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGGCAGC	NONE	.	.	.	.	.	ENSP00000264167	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000264167	Transcript	.	.	ENSG00000018510	327	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADAS_HUMAN	AGPS	HGNC	Q53SN7_HUMAN,Q53SG6_HUMAN,Q53S12_HUMAN,B7Z3Q4_HUMAN	.	UPI00001254E8	SNV	AGPS,5_prime_UTR_variant,,ENST00000409888,;AGPS,5_prime_UTR_variant,,ENST00000264167,;NFE2L2,upstream_gene_variant,,ENST00000464747,;AC074286.1,upstream_gene_variant,,ENST00000397057,;AC074286.1,upstream_gene_variant,,ENST00000447413,;AC074286.1,upstream_gene_variant,,ENST00000456746,;	127	50	53	SUCCESS
NT5C1B	93034	.	GRCh37	2	18765411	18765411	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	26	106	0	ENST00000359846.2:c.1014T>A	p.Tyr338Ter	p.Y338*	ENST00000359846	NM_001199086.1	338	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS33150.1	1014	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGATACTC	NONE	.	.	hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0,Pfam_domain:PF06189	.	.	ENSP00000352904	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000359846	Transcript	.	.	ENSG00000185013	17818	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5NT1B_HUMAN	NT5C1B	HGNC	B4DZ86_HUMAN	.	UPI000035B1B0	SNV	NT5C1B,stop_gained,p.Tyr338Ter,ENST00000359846,;NT5C1B,stop_gained,p.Tyr278Ter,ENST00000304081,;NT5C1B,stop_gained,p.Tyr338Ter,ENST00000600945,;NT5C1B-RDH14,stop_gained,p.Tyr338Ter,ENST00000532967,;NT5C1B-RDH14,stop_gained,p.Tyr280Ter,ENST00000444297,;NT5C1B,upstream_gene_variant,,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	1092	106	168	SUCCESS
GLS	2744	.	GRCh37	2	191819351	191819351	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	38	175	0	ENST00000320717.3:c.1754A>T	p.Asp585Val	p.D585V	ENST00000320717	NM_014905.4	585	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2308.1	1754	RADIA|MUTECT|MUSE|VARSCANS	.	CTATGATTCTA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR12544,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000317379	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000320717	Transcript	.	.	ENSG00000115419	4331	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GLSK_HUMAN	GLS	HGNC	Q53TX0_HUMAN,Q53S89_HUMAN,Q53RX0_HUMAN,C9JIJ6_HUMAN,B7Z509_HUMAN	.	UPI000012B7F6	SNV	GLS,missense_variant,p.Asp106Val,ENST00000412247,;GLS,missense_variant,p.Asp156Val,ENST00000457316,;GLS,missense_variant,p.Asp585Val,ENST00000320717,;GLS,missense_variant,p.Asp90Val,ENST00000409428,;	2012	175	217	SUCCESS
DNAH7	56171	.	GRCh37	2	196620956	196620956	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	41	217	0	ENST00000312428.6:c.11487T>C	p.Asn3829=	p.N3829=	ENST00000312428	NM_018897.2	3829	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS42794.1	11487	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACATTCAA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000311273	.	62/65	.	.	.	.	.	.	.	.	.	62/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000409063,;DNAH7,synonymous_variant,p.%3D,ENST00000312428,;DNAH7,upstream_gene_variant,,ENST00000438565,;	11588	217	286	SUCCESS
DNAH7	56171	.	GRCh37	2	196774843	196774843	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	95	0	ENST00000312428.6:c.4012A>T	p.Thr1338Ser	p.T1338S	ENST00000312428	NM_018897.2	1338	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS42794.1	4012	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGTAGTTT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	25/65	.	.	.	.	.	.	.	.	.	25/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	tolerated(0.07)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Thr1338Ser,ENST00000312428,;DNAH7,upstream_gene_variant,,ENST00000475293,;	4113	95	114	SUCCESS
PTH2R	5746	.	GRCh37	2	209353870	209353870	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	40	0	ENST00000272847.2:c.1210T>A	p.Phe404Ile	p.F404I	ENST00000272847	NM_005048.3	404	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS2383.1	1210	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCTTTCAG	NONE	.	.	Prints_domain:PR00249,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	.	.	ENSP00000272847	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000272847	Transcript	.	.	ENSG00000144407	9609	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	PTH2R_HUMAN	PTH2R	HGNC	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN	.	UPI000005041E	SNV	PTH2R,missense_variant,p.Phe404Ile,ENST00000272847,;AC019185.4,intron_variant,,ENST00000424628,;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;PTH2R,missense_variant,p.Phe21Ile,ENST00000419079,;	1423	40	44	SUCCESS
SLC4A3	6508	.	GRCh37	2	220505246	220505246	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	5	72	0	ENST00000317151.3:c.3372T>C	p.Gly1124=	p.G1124=	ENST00000317151		1124	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS2446.1	3453	MUTECT|MUSE	.	TCTGGTATCCA	NONE	.	.	TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Transmembrane_helices:TMhelix	.	.	ENSP00000362867	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,synonymous_variant,p.%3D,ENST00000373760,;SLC4A3,synonymous_variant,p.%3D,ENST00000273063,;SLC4A3,synonymous_variant,p.%3D,ENST00000317151,;SLC4A3,synonymous_variant,p.%3D,ENST00000358055,;SLC4A3,synonymous_variant,p.%3D,ENST00000373762,;RP11-256I23.3,upstream_gene_variant,,ENST00000597288,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,downstream_gene_variant,,ENST00000416910,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	3722	72	82	SUCCESS
DOCK10	55619	.	GRCh37	2	225642958	225642958	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	10	88	0	ENST00000258390.7:c.5699A>T	p.Glu1900Val	p.E1900V	ENST00000258390	NM_014689.2	1900	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46528.1	5699	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCTCTTTA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	51/56	.	.	.	.	.	.	.	.	.	51/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Glu50Val,ENST00000535663,;DOCK10,missense_variant,p.Glu1900Val,ENST00000258390,;DOCK10,missense_variant,p.Glu1894Val,ENST00000409592,;	5767	88	86	SUCCESS
DOCK10	55619	.	GRCh37	2	225684228	225684228	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	46	235	0	ENST00000258390.7:c.3202G>A	p.Asp1068Asn	p.D1068N	ENST00000258390	NM_014689.2	1068	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS46528.1	3202	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTCCATAA	NONE	.	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	29/56	.	.	.	.	.	.	.	.	.	29/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.076)	.	tolerated(0.09)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Asp1068Asn,ENST00000258390,;DOCK10,missense_variant,p.Asp1062Asn,ENST00000409592,;DOCK10,upstream_gene_variant,,ENST00000422684,;	3270	235	267	SUCCESS
CXXC11	0	.	GRCh37	2	242814682	242814682	+	synonymous_variant	Silent	SNP	G	G	A	rs1242139016	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	53	0	ENST00000343216.3:c.975G>A	p.Val325=	p.V325=	ENST00000343216	NM_173821.2	325	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42843.1	975	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTGTTCTA	NONE	.	.	hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF2	.	.	ENSP00000345374	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000343216	Transcript	.	.	ENSG00000188011	26585	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CB085_HUMAN	CXXC11	HGNC	.	.	UPI000014050F	SNV	CXXC11,synonymous_variant,p.%3D,ENST00000343216,;CXXC11,3_prime_UTR_variant,,ENST00000419912,;	1003	53	55	SUCCESS
HADHB	3032	.	GRCh37	2	26502110	26502110	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	10	83	0	ENST00000317799.5:c.738G>A	p.Leu246=	p.L246=	ENST00000317799	NM_000183.2	246	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1722.1	738	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGCGCTC	NONE	.	.	Superfamily_domains:SSF53901,Pfam_domain:PF00108,TIGRFAM_domain:TIGR01930,Gene3D:3.40.47.10,hmmpanther:PTHR18919:SF5,hmmpanther:PTHR18919	.	.	ENSP00000325136	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000317799	Transcript	.	.	ENSG00000138029	4803	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ECHB_HUMAN	HADHB	HGNC	C9K0M0_HUMAN,C9JEY0_HUMAN,C9JE81_HUMAN	.	UPI0000129B6F	SNV	HADHB,synonymous_variant,p.%3D,ENST00000545822,;HADHB,synonymous_variant,p.%3D,ENST00000537713,;HADHB,synonymous_variant,p.%3D,ENST00000317799,;HADHB,intron_variant,,ENST00000405867,;HADHB,downstream_gene_variant,,ENST00000425035,;HADHB,downstream_gene_variant,,ENST00000448743,;HADHB,non_coding_transcript_exon_variant,,ENST00000494615,;	842	83	83	SUCCESS
PPP1R21	129285	.	GRCh37	2	48692100	48692100	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	26	215	0	ENST00000294952.8:c.719A>C	p.Asn240Thr	p.N240T	ENST00000294952	NM_001135629.2	240	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS46278.1	719	MUTECT|MUSE|VARSCANS	.	TCTGAACGTTC	NONE	.	.	hmmpanther:PTHR21448	.	.	ENSP00000294952	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000294952	Transcript	.	.	ENSG00000162869	30595	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PPR21_HUMAN	PPP1R21	HGNC	F8W7E1_HUMAN	.	UPI000015C523	SNV	PPP1R21,missense_variant,p.Asn240Thr,ENST00000449090,;PPP1R21,missense_variant,p.Asn240Thr,ENST00000281394,;PPP1R21,missense_variant,p.Asn240Thr,ENST00000294952,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;PPP1R21,upstream_gene_variant,,ENST00000460299,;	876	215	254	SUCCESS
NRXN1	9378	.	GRCh37	2	51254823	51254823	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369183287	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	248	44	229	0	ENST00000406316.2:c.589G>A	p.Val197Met	p.V197M	ENST00000406316	NM_004801.4	197	Gtg/Atg	0	A:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS46282.1	589	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGGGCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200	.	A:0.0002	ENSP00000385142	.	2/24	.	.	.	.	.	.	.	.	rs369183287	2/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.11)	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.Val197Met,ENST00000405472,;NRXN1,missense_variant,p.Val197Met,ENST00000404971,;NRXN1,missense_variant,p.Val197Met,ENST00000406316,;NRXN1,missense_variant,p.Val197Met,ENST00000401669,;NRXN1,missense_variant,p.Val197Met,ENST00000406859,;NRXN1,missense_variant,p.Val197Met,ENST00000405581,;NRXN1,missense_variant,p.Val197Met,ENST00000402717,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,non_coding_transcript_exon_variant,,ENST00000496792,;	1929	230	292	SUCCESS
PEX13	5194	.	GRCh37	2	61258830	61258830	+	synonymous_variant	Silent	SNP	A	A	G	rs1384058871	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	87	0	ENST00000295030.5:c.369A>G	p.Glu123=	p.E123=	ENST00000295030	NM_002618.3	123	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1866.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAGAAAG	NONE	.	.	hmmpanther:PTHR19332,Pfam_domain:PF04088	.	.	ENSP00000295030	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,synonymous_variant,p.%3D,ENST00000295030,;PEX13,non_coding_transcript_exon_variant,,ENST00000472678,;	407	87	98	SUCCESS
DQX1	165545	.	GRCh37	2	74752644	74752644	+	synonymous_variant	Silent	SNP	C	C	T	rs1237646294	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	18	72	0	ENST00000393951.2:c.213G>A	p.Glu71=	p.E71=	ENST00000393951		71	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS1949.2	213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCTCCCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934,PROSITE_profiles:PS51192	.	.	ENSP00000384621	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000404568	Transcript	.	.	ENSG00000144045	20410	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DQX1_HUMAN	DQX1	HGNC	C9J0W1_HUMAN	.	UPI0000208758	SNV	DQX1,synonymous_variant,p.%3D,ENST00000404568,;DQX1,synonymous_variant,p.%3D,ENST00000393951,;DQX1,intron_variant,,ENST00000451518,;HTRA2,upstream_gene_variant,,ENST00000352222,;HTRA2,upstream_gene_variant,,ENST00000258080,;HTRA2,upstream_gene_variant,,ENST00000437202,;AUP1,downstream_gene_variant,,ENST00000377526,;DQX1,intron_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;HTRA2,upstream_gene_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000495597,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;AUP1,downstream_gene_variant,,ENST00000463900,;HTRA2,upstream_gene_variant,,ENST00000484352,;AUP1,downstream_gene_variant,,ENST00000486234,;HTRA2,upstream_gene_variant,,ENST00000465521,;DQX1,upstream_gene_variant,,ENST00000483555,;AUP1,downstream_gene_variant,,ENST00000462297,;DQX1,upstream_gene_variant,,ENST00000418139,;AUP1,downstream_gene_variant,,ENST00000464887,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000472800,;	433	72	97	SUCCESS
REG3G	130120	.	GRCh37	2	79254956	79254956	+	synonymous_variant	Silent	SNP	A	A	C	rs369618316	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	76	0	ENST00000272324.5:c.357A>C	p.Gly119=	p.G119=	ENST00000272324	NM_001008387.2	119	ggA/ggC	0	G:0.0002	.	.	.	.	C	G	protein_coding	YES	CCDS1962.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGATGGGA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF29,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	G:0	ENSP00000272324	.	5/6	.	.	.	.	.	.	.	.	rs369618316	5/6	PASS	ENST00000272324	Transcript	.	.	ENSG00000143954	29595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REG3G_HUMAN	REG3G	HGNC	.	.	UPI0000048F1E	SNV	REG3G,synonymous_variant,p.%3D,ENST00000393897,;REG3G,synonymous_variant,p.%3D,ENST00000409471,;REG3G,synonymous_variant,p.%3D,ENST00000272324,;REG3G,downstream_gene_variant,,ENST00000490944,;REG3G,downstream_gene_variant,,ENST00000498312,;	541	76	92	SUCCESS
MGAT4A	11320	.	GRCh37	2	99242216	99242216	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	41	259	0	ENST00000264968.3:c.1551G>T	p.Gln517His	p.Q517H	ENST00000264968		517	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS2036.1	1551	RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCTGAAT	NONE	.	.	hmmpanther:PTHR12062:SF4,hmmpanther:PTHR12062	.	.	ENSP00000264968	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000264968	Transcript	.	.	ENSG00000071073	7047	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious(0.01)	.	MGT4A_HUMAN	MGAT4A	HGNC	.	.	UPI000003F051	SNV	MGAT4A,missense_variant,p.Gln389His,ENST00000414521,;MGAT4A,missense_variant,p.Gln517His,ENST00000393487,;MGAT4A,missense_variant,p.Gln517His,ENST00000409391,;MGAT4A,missense_variant,p.Gln517His,ENST00000264968,;	1915	259	231	SUCCESS
ABHD10	55347	.	GRCh37	3	111710309	111710309	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	42	169	0	ENST00000273359.3:c.662T>A	p.Phe221Tyr	p.F221Y	ENST00000273359	NM_018394.3	221	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS2963.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTTCATTA	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF12697,hmmpanther:PTHR16138:SF7,hmmpanther:PTHR16138	.	.	ENSP00000273359	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000273359	Transcript	.	.	ENSG00000144827	25656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.644)	.	deleterious(0)	.	ABHDA_HUMAN	ABHD10	HGNC	B7Z6A8_HUMAN	.	UPI0000042225	SNV	ABHD10,missense_variant,p.Phe221Tyr,ENST00000273359,;ABHD10,missense_variant,p.Phe64Tyr,ENST00000534857,;ABHD10,3_prime_UTR_variant,,ENST00000494817,;ABHD10,3_prime_UTR_variant,,ENST00000491580,;ABHD10,3_prime_UTR_variant,,ENST00000493784,;	689	169	153	SUCCESS
CCDC80	151887	.	GRCh37	3	112357345	112357345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	29	84	0	ENST00000206423.3:c.1408A>G	p.Arg470Gly	p.R470G	ENST00000206423	NM_199512.1	470	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS2968.1	1408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCTGTCCA	NONE	.	.	.	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	deleterious(0)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Arg470Gly,ENST00000206423,;CCDC80,missense_variant,p.Arg470Gly,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	2362	84	67	SUCCESS
IGSF11	152404	.	GRCh37	3	118753486	118753486	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	29	143	0	ENST00000393775.2:c.-57T>C		p.*19*	ENST00000393775	NM_001015887.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46891.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGAGGAGC	NONE	.	.	.	.	.	ENSP00000377370	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000393775	Transcript	.	.	ENSG00000144847	16669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGS11_HUMAN	IGSF11	HGNC	C9JAD3_HUMAN,C9IZX3_HUMAN	.	UPI000013D9B3	SNV	IGSF11,5_prime_UTR_variant,,ENST00000489689,;IGSF11,5_prime_UTR_variant,,ENST00000393775,;IGSF11,5_prime_UTR_variant,,ENST00000480431,;IGSF11,5_prime_UTR_variant,,ENST00000491903,;IGSF11,intron_variant,,ENST00000425327,;IGSF11,intron_variant,,ENST00000354673,;IGSF11,intron_variant,,ENST00000441144,;IGSF11,intron_variant,,ENST00000494802,;	250	143	123	SUCCESS
NR1I2	8856	.	GRCh37	3	119530393	119530393	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	89	0	ENST00000393716.2:c.339G>C	p.Met113Ile	p.M113I	ENST00000393716	NM_003889.3	113	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS2995.1	456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATGTCCGA	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39,Gene3D:1.10.565.10,Superfamily_domains:SSF57716,Prints_domain:PR00398	.	.	ENSP00000336528	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337940	Transcript	.	.	ENSG00000144852	7968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious(0.01)	.	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,missense_variant,p.Met152Ile,ENST00000337940,;NR1I2,missense_variant,p.Met113Ile,ENST00000466380,;NR1I2,missense_variant,p.Met113Ile,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;NR1I2,downstream_gene_variant,,ENST00000474090,;	504	89	73	SUCCESS
NR1I2	8856	.	GRCh37	3	119530394	119530394	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	90	0	ENST00000393716.2:c.340T>A	p.Ser114Thr	p.S114T	ENST00000393716	NM_003889.3	114	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS2995.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGTCCGAC	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39,Gene3D:1.10.565.10,Superfamily_domains:SSF57716	.	.	ENSP00000336528	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337940	Transcript	.	.	ENSG00000144852	7968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.601)	.	tolerated(0.45)	.	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,missense_variant,p.Ser153Thr,ENST00000337940,;NR1I2,missense_variant,p.Ser114Thr,ENST00000466380,;NR1I2,missense_variant,p.Ser114Thr,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;NR1I2,downstream_gene_variant,,ENST00000474090,;	505	90	75	SUCCESS
CASR	846	.	GRCh37	3	122002614	122002614	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	67	0	ENST00000490131.1:c.1813T>C	p.Phe605Leu	p.F605L	ENST00000490131	NM_000388.3	605	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS54632.1	1843	MUTECT|MUSE|VARSCANS	.	TCGAGTTTCTG	NONE	.	.	hmmpanther:PTHR24061:SF358,hmmpanther:PTHR24061	.	.	ENSP00000420194	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.265)	.	deleterious(0)	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,missense_variant,p.Phe605Leu,ENST00000296154,;CASR,missense_variant,p.Phe615Leu,ENST00000498619,;CASR,missense_variant,p.Phe605Leu,ENST00000490131,;AC068754.1,downstream_gene_variant,,ENST00000408547,;	2281	67	65	SUCCESS
CCDC14	64770	.	GRCh37	3	123674900	123674900	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	9	117	0	ENST00000433542.2:c.366A>G	p.Glu122=	p.E122=	ENST00000433542	NM_022757.4	122	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS3025.2	366	RADIA|MUTECT|MUSE|VARSCANS	.	GAATCTTCATT	NONE	.	.	hmmpanther:PTHR22367,hmmpanther:PTHR22367:SF1,Pfam_domain:PF15254	.	.	ENSP00000395706	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000433542	Transcript	.	.	ENSG00000175455	25766	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD14_HUMAN	CCDC14	HGNC	C9JWZ1_HUMAN	.	UPI00016632FB	SNV	CCDC14,synonymous_variant,p.%3D,ENST00000409697,;CCDC14,synonymous_variant,p.%3D,ENST00000488653,;CCDC14,synonymous_variant,p.%3D,ENST00000433542,;CCDC14,5_prime_UTR_variant,,ENST00000485727,;CCDC14,5_prime_UTR_variant,,ENST00000489746,;CCDC14,upstream_gene_variant,,ENST00000310351,;CCDC14,intron_variant,,ENST00000463996,;CCDC14,intron_variant,,ENST00000477268,;CCDC14,intron_variant,,ENST00000483247,;CCDC14,3_prime_UTR_variant,,ENST00000409657,;CCDC14,3_prime_UTR_variant,,ENST00000435910,;CCDC14,non_coding_transcript_exon_variant,,ENST00000495381,;CCDC14,non_coding_transcript_exon_variant,,ENST00000438440,;CCDC14,intron_variant,,ENST00000417438,;CCDC14,downstream_gene_variant,,ENST00000478956,;	766	117	92	SUCCESS
MSL2	55167	.	GRCh37	3	135870012	135870012	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1277309986	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	20	113	0	ENST00000309993.2:c.1711A>G	p.Ile571Val	p.I571V	ENST00000309993	NM_018133.3	571	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33861.1	1711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTATAGCTT	NONE	.	.	hmmpanther:PTHR16048,hmmpanther:PTHR16048:SF2	.	.	ENSP00000311827	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309993	Transcript	.	.	ENSG00000174579	25544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.01)	.	MSL2_HUMAN	MSL2	HGNC	C9J5S2_HUMAN,C9IZG7_HUMAN,C9IZ03_HUMAN	.	UPI000020A2D7	SNV	MSL2,missense_variant,p.Ile571Val,ENST00000309993,;MSL2,missense_variant,p.Ile497Val,ENST00000434835,;MSL2,downstream_gene_variant,,ENST00000491050,;MSL2,downstream_gene_variant,,ENST00000473093,;PPP2R3A,downstream_gene_variant,,ENST00000264977,;MSL2,downstream_gene_variant,,ENST00000481989,;TDGF1P6,upstream_gene_variant,,ENST00000463873,;	2444	113	95	SUCCESS
SH3BP5	9467	.	GRCh37	3	15300443	15300443	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763097509	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	57	0	ENST00000383791.3:c.784C>G	p.Arg262Gly	p.R262G	ENST00000383791	NM_004844.4	262	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS2625.2	784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCCGCC	NONE	byFrequency	.	hmmpanther:PTHR19423,hmmpanther:PTHR19423:SF3,Pfam_domain:PF05276	.	.	ENSP00000373301	.	7/9	.	.	.	.	.	.	.	.	rs763097509	7/9	PASS	ENST00000383791	Transcript	.	.	ENSG00000131370	10827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.564)	.	deleterious(0.05)	.	3BP5_HUMAN	SH3BP5	HGNC	Q6MZG3_HUMAN,C9JNW0_HUMAN,C9JK30_HUMAN,B2R7Y8_HUMAN	.	UPI00004C3DB7	SNV	SH3BP5,missense_variant,p.Arg105Gly,ENST00000408919,;SH3BP5,missense_variant,p.Arg262Gly,ENST00000383791,;SH3BP5,missense_variant,p.Arg105Gly,ENST00000366391,;SH3BP5,missense_variant,p.Arg105Gly,ENST00000426925,;SH3BP5,missense_variant,p.Arg105Gly,ENST00000253688,;SH3BP5,downstream_gene_variant,,ENST00000417936,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000436602,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000413977,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000420195,;SH3BP5,intron_variant,,ENST00000412806,;SH3BP5,downstream_gene_variant,,ENST00000450625,;	1005	57	70	SUCCESS
MME	4311	.	GRCh37	3	154878219	154878219	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	95	0	ENST00000360490.2:c.1642T>A	p.Ser548Thr	p.S548T	ENST00000360490	NM_007289.2	548	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS3172.1	1642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTCAGGA	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF114,hmmpanther:PTHR11733	.	.	ENSP00000418525	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000460393	Transcript	.	.	ENSG00000196549	7154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.09)	.	NEP_HUMAN	MME	HGNC	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN	.	UPI0000033C41	SNV	MME,missense_variant,p.Ser548Thr,ENST00000360490,;MME,missense_variant,p.Ser548Thr,ENST00000460393,;MME,missense_variant,p.Ser548Thr,ENST00000492661,;MME,missense_variant,p.Ser548Thr,ENST00000493237,;MME,missense_variant,p.Ser548Thr,ENST00000462745,;MME-AS1,intron_variant,,ENST00000484721,;MME,non_coding_transcript_exon_variant,,ENST00000495577,;	1762	95	86	SUCCESS
ST6GAL1	6480	.	GRCh37	3	186790725	186790725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	29	123	0	ENST00000169298.3:c.794A>G	p.Asp265Gly	p.D265G	ENST00000169298	NM_173216.2	265	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3285.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGATATCC	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF34	.	.	ENSP00000169298	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000169298	Transcript	.	.	ENSG00000073849	10860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	.	.	SIAT1_HUMAN	ST6GAL1	HGNC	C9K0R8_HUMAN,C9JVK7_HUMAN,C9JTR0_HUMAN,C9JR47_HUMAN,C9JPG6_HUMAN,C9JKG0_HUMAN,C9JI90_HUMAN,C9JH16_HUMAN,C9JFM4_HUMAN,C9JAT4_HUMAN,C9J6X5_HUMAN,C9IYS8_HUMAN,B2R513_HUMAN	.	UPI000000D97B	SNV	ST6GAL1,missense_variant,p.Asp34Gly,ENST00000457772,;ST6GAL1,missense_variant,p.Asp34Gly,ENST00000442023,;ST6GAL1,missense_variant,p.Asp265Gly,ENST00000169298,;ST6GAL1,missense_variant,p.Asp34Gly,ENST00000427315,;ST6GAL1,missense_variant,p.Asp265Gly,ENST00000448044,;ST6GAL1,downstream_gene_variant,,ENST00000455441,;ST6GAL1,3_prime_UTR_variant,,ENST00000448449,;ST6GAL1,non_coding_transcript_exon_variant,,ENST00000470633,;	1468	123	120	SUCCESS
ATP13A5	344905	.	GRCh37	3	192992998	192992998	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	86	0	ENST00000342358.4:c.3490C>G	p.Leu1164Val	p.L1164V	ENST00000342358	NM_198505.2	1164	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS33914.1	3490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTAGCTTCT	NONE	.	.	.	.	.	ENSP00000341942	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000342358	Transcript	.	.	ENSG00000187527	31789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.07)	.	AT135_HUMAN	ATP13A5	HGNC	.	.	UPI000050EC1D	SNV	ATP13A5,missense_variant,p.Leu1164Val,ENST00000342358,;HRASLS,downstream_gene_variant,,ENST00000264735,;HRASLS,downstream_gene_variant,,ENST00000602513,;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;HRASLS,intron_variant,,ENST00000416012,;	3608	86	77	SUCCESS
LMLN-AS1	100873947	.	GRCh37	3	197765611	197765611	+	splice_region_variant,intron_variant,non_coding_transcript_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	43	0	ENST00000423460.1:n.199+8C>T		p.X67_splice	ENST00000423460		67		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46988.1	.	MUTECT|MUSE	.	AGTGAGTGCCA	NONE	.	.	.	.	.	ENSP00000410926	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000420910	Transcript	.	.	ENSG00000185621	15991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMLN_HUMAN	LMLN	HGNC	B4DR62_HUMAN	.	UPI000192C367	SNV	LMLN,3_prime_UTR_variant,,ENST00000330198,;LMLN,3_prime_UTR_variant,,ENST00000420910,;LMLN,downstream_gene_variant,,ENST00000332636,;LMLN,downstream_gene_variant,,ENST00000482695,;LMLN-AS1,splice_region_variant,,ENST00000423460,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;	2152	43	40	SUCCESS
UBE2E1	7324	.	GRCh37	3	23932096	23932096	+	stop_retained_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	43	140	0	ENST00000306627.3:c.581A>G	p.Ter194=	p.*194=	ENST00000306627	NM_003341.4	194	tAa/tGa	0	.	.	.	.	.	G	*	protein_coding	YES	CCDS2638.1	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATAAATTG	NONE	.	.	.	.	.	ENSP00000303709	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000306627	Transcript	.	.	ENSG00000170142	12477	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2E1_HUMAN	UBE2E1	HGNC	C9J2P0_HUMAN	.	UPI0000137964	SNV	UBE2E1,stop_retained_variant,p.%3D,ENST00000424381,;UBE2E1,stop_retained_variant,p.%3D,ENST00000306627,;UBE2E1,stop_retained_variant,p.%3D,ENST00000452012,;UBE2E1,stop_retained_variant,p.%3D,ENST00000346855,;NKIRAS1,downstream_gene_variant,,ENST00000415901,;NKIRAS1,downstream_gene_variant,,ENST00000421515,;NKIRAS1,downstream_gene_variant,,ENST00000443659,;NKIRAS1,downstream_gene_variant,,ENST00000416026,;NKIRAS1,downstream_gene_variant,,ENST00000425478,;NKIRAS1,downstream_gene_variant,,ENST00000437230,;UBE2E1,downstream_gene_variant,,ENST00000442670,;UBE2E1,downstream_gene_variant,,ENST00000467766,;NKIRAS1,downstream_gene_variant,,ENST00000388759,;NKIRAS1,downstream_gene_variant,,ENST00000412028,;UBE2E1,non_coding_transcript_exon_variant,,ENST00000493707,;UBE2E1,non_coding_transcript_exon_variant,,ENST00000475680,;UBE2E1,downstream_gene_variant,,ENST00000495141,;	800	140	159	SUCCESS
SCN10A	6336	.	GRCh37	3	38739345	38739345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	80	0	ENST00000449082.2:c.5366A>G	p.Asp1789Gly	p.D1789G	ENST00000449082	NM_006514.2	1789	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS33736.1	5366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTCCATC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Asp1789Gly,ENST00000449082,;	5366	80	75	SUCCESS
SETD2	29072	.	GRCh37	3	47161750	47161751	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CCATT	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	86	0	ENST00000409792.3:c.4375_4376insAATGG	p.Arg1459GlnfsTer26	p.R1459Qfs*26	ENST00000409792	NM_014159.6	1459	cga/cAATGGga	0	.	.	.	.	.	CCATT	R/QWX	protein_coding	YES	CCDS2749.2	4375-4376	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCATCGCTGT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	insertion	SETD2,frameshift_variant,p.Arg1459GlnfsTer26,ENST00000409792,;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,frameshift_variant,p.Arg1093GlnfsTer26,ENST00000445387,;SETD2,frameshift_variant,p.Arg1331GlnfsTer26,ENST00000330022,;SETD2,frameshift_variant,p.Arg1177GlnfsTer26,ENST00000431180,;	4418-4419	86	79	SUCCESS
LAMB2	3913	.	GRCh37	3	49162520	49162520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	124	0	ENST00000305544.4:c.2803A>G	p.Ser935Gly	p.S935G	ENST00000305544		935	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS2789.1	2803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCTCCCAG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF36,hmmpanther:PTHR10574,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181	.	.	ENSP00000388325	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0.04)	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	SNV	LAMB2,missense_variant,p.Ser935Gly,ENST00000305544,;LAMB2,missense_variant,p.Ser935Gly,ENST00000418109,;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000453664,;USP19,upstream_gene_variant,,ENST00000434032,;USP19,upstream_gene_variant,,ENST00000398888,;USP19,upstream_gene_variant,,ENST00000306026,;LAMB2,non_coding_transcript_exon_variant,,ENST00000464891,;LAMB2,non_coding_transcript_exon_variant,,ENST00000486298,;USP19,upstream_gene_variant,,ENST00000488993,;USP19,upstream_gene_variant,,ENST00000491859,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,non_coding_transcript_exon_variant,,ENST00000462930,;LAMB2,non_coding_transcript_exon_variant,,ENST00000542580,;LAMB2,non_coding_transcript_exon_variant,,ENST00000483057,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,downstream_gene_variant,,ENST00000477701,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,downstream_gene_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,downstream_gene_variant,,ENST00000493571,;	2968	124	111	SUCCESS
ABHD14A	25864	.	GRCh37	3	52011894	52011894	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs776878514	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	40	0	ENST00000273596.3:c.77T>A	p.Val26Glu	p.V26E	ENST00000273596	NM_015407.4	26	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS2843.1	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTACAGA	NONE	.	.	hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF280	.	.	ENSP00000273596	.	2/5	.	.	.	.	.	.	.	.	rs776878514	2/5	PASS	ENST00000273596	Transcript	.	.	ENSG00000248487	24538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	deleterious_low_confidence(0)	.	ABHEA_HUMAN	ABHD14A	HGNC	.	.	UPI000045711A	SNV	ABHD14A,missense_variant,p.Val21Glu,ENST00000494478,;ABHD14A,missense_variant,p.Val26Glu,ENST00000491470,;ABHD14A-ACY1,missense_variant,p.Val26Glu,ENST00000463937,;ABHD14A,missense_variant,p.Val91Glu,ENST00000497864,;ABHD14A,missense_variant,p.Val26Glu,ENST00000273596,;ACY1,5_prime_UTR_variant,,ENST00000458031,;ABHD14B,intron_variant,,ENST00000483233,;ABHD14B,upstream_gene_variant,,ENST00000361143,;ABHD14B,upstream_gene_variant,,ENST00000395008,;ABHD14B,upstream_gene_variant,,ENST00000461108,;RP11-155D18.14,upstream_gene_variant,,ENST00000489595,;ABHD14B,upstream_gene_variant,,ENST00000525795,;ABHD14B,upstream_gene_variant,,ENST00000315877,;ABHD14B,upstream_gene_variant,,ENST00000487005,;RP11-155D18.12,upstream_gene_variant,,ENST00000488257,;ABHD14A-ACY1,missense_variant,p.Val26Glu,ENST00000463721,;ABHD14A-ACY1,missense_variant,p.Val26Glu,ENST00000486081,;ABHD14A,non_coding_transcript_exon_variant,,ENST00000474575,;ABHD14A-ACY1,intron_variant,,ENST00000497128,;ABHD14B,upstream_gene_variant,,ENST00000473912,;	145	40	25	SUCCESS
TLR9	54106	.	GRCh37	3	52255355	52255355	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	23	105	0	ENST00000360658.2:c.2977C>T	p.Leu993Phe	p.L993F	ENST00000360658	NM_017442.3	993	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	.	3439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGACAC	NONE	.	.	PROSITE_profiles:PS50104,Pfam_domain:PF01582,Gene3D:3.40.50.10140,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000417517	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000494383	Transcript	.	.	ENSG00000173366	15633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	TLR9	Uniprot_gn	C3W5P5_HUMAN	.	UPI0001B795AC	SNV	TLR9,missense_variant,p.Leu1147Phe,ENST00000494383,;TLR9,missense_variant,p.Leu1017Phe,ENST00000597542,;TLR9,missense_variant,p.Leu993Phe,ENST00000360658,;TLR9,downstream_gene_variant,,ENST00000478201,;	3437	105	85	SUCCESS
ERC2	26059	.	GRCh37	3	56468944	56468944	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	68	0	ENST00000288221.6:c.92G>T	p.Arg31Ile	p.R31I	ENST00000288221	NM_015576.1	31	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS46851.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTCTTCGG	BUFFER|p.R30Q|c.89G>A|3,BUFFER|p.R30Q|c.89G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3	.	.	ENSP00000288221	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,missense_variant,p.Arg31Ile,ENST00000288221,;ERC2,non_coding_transcript_exon_variant,,ENST00000472917,;ERC2,upstream_gene_variant,,ENST00000477381,;ERC2,missense_variant,p.Arg31Ile,ENST00000460849,;	348	68	66	SUCCESS
POU1F1	5449	.	GRCh37	3	87313643	87313643	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	190	0	ENST00000350375.2:c.234T>C	p.Leu78=	p.L78=	ENST00000350375	NM_000306.2	78	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS46873.1	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATAAAGACA	NONE	.	.	hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF82	.	.	ENSP00000342931	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000344265	Transcript	.	.	ENSG00000064835	9210	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIT1_HUMAN	POU1F1	HGNC	.	.	UPI000002B11B	SNV	POU1F1,synonymous_variant,p.%3D,ENST00000560656,;POU1F1,synonymous_variant,p.%3D,ENST00000344265,;POU1F1,synonymous_variant,p.%3D,ENST00000350375,;POU1F1,intron_variant,,ENST00000561167,;	354	190	162	SUCCESS
TBC1D9	23158	.	GRCh37	4	141677242	141677242	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	99	0	ENST00000442267.2:c.-43G>C		p.*15*	ENST00000442267	NM_015130.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47136.1	.	MUTECT|MUSE	.	TGGGTCCAGTC	NONE	.	.	.	.	.	ENSP00000411197	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,5_prime_UTR_variant,,ENST00000442267,;RP11-102N12.3,upstream_gene_variant,,ENST00000609937,;	33	99	65	SUCCESS
FSTL5	56884	.	GRCh37	4	162307147	162307147	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	137	0	ENST00000306100.5:c.2296G>A	p.Val766Met	p.V766M	ENST00000306100	NM_001128427.2	766	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3802.1	2296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACATCAG	NONE	.	.	Superfamily_domains:0047643,Gene3D:2.130.10.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.01)	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Val765Met,ENST00000379164,;FSTL5,missense_variant,p.Val765Met,ENST00000536695,;FSTL5,missense_variant,p.Val756Met,ENST00000427802,;FSTL5,missense_variant,p.Val766Met,ENST00000306100,;RP11-234O6.2,non_coding_transcript_exon_variant,,ENST00000508189,;	2733	137	76	SUCCESS
ASB5	140458	.	GRCh37	4	177190143	177190143	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	126	0	ENST00000296525.3:c.117T>C	p.Ser39=	p.S39=	ENST00000296525	NM_080874.3	39	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS3827.1	117	MUTECT|MUSE	.	AAATGACTGAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13	.	.	ENSP00000296525	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000296525	Transcript	.	.	ENSG00000164122	17180	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASB5_HUMAN	ASB5	HGNC	Q5HYF3_HUMAN,D6R9Q2_HUMAN	.	UPI00000015CF	SNV	ASB5,synonymous_variant,p.%3D,ENST00000296525,;ASB5,downstream_gene_variant,,ENST00000505299,;	231	126	92	SUCCESS
TLR3	7098	.	GRCh37	4	187004594	187004594	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	15	172	0	ENST00000296795.3:c.1754T>C	p.Leu585Ser	p.L585S	ENST00000296795	NM_003265.2	585	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS3846.1	1754	RADIA|MUTECT|MUSE|VARSCANS	.	GGATTTATTTG	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000296795	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000296795	Transcript	1	.	ENSG00000164342	11849	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TLR3_HUMAN	TLR3	HGNC	E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN	.	UPI0000049B3E	SNV	TLR3,missense_variant,p.Leu308Ser,ENST00000504367,;TLR3,missense_variant,p.Leu585Ser,ENST00000296795,;TLR3,downstream_gene_variant,,ENST00000513189,;TLR3,downstream_gene_variant,,ENST00000508051,;TLR3,non_coding_transcript_exon_variant,,ENST00000512264,;	1858	172	134	SUCCESS
SLIT2	9353	.	GRCh37	4	20598128	20598128	+	synonymous_variant	Silent	SNP	C	C	T	rs1259582147	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	103	0	ENST00000504154.1:c.3411C>T	p.Ile1137=	p.I1137=	ENST00000504154	NM_004787.1	1137	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3426.1	3411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATCGTCAG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00274,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000422591	.	32/37	.	.	.	.	.	.	.	.	COSM3602869	32/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,synonymous_variant,p.%3D,ENST00000273739,;SLIT2,synonymous_variant,p.%3D,ENST00000504154,;SLIT2,synonymous_variant,p.%3D,ENST00000503823,;SLIT2,synonymous_variant,p.%3D,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000512993,;	3663	103	105	SUCCESS
COMMD8	54951	.	GRCh37	4	47465616	47465616	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	47	0	ENST00000381571.4:c.53A>T	p.Glu18Val	p.E18V	ENST00000381571	NM_017845.3	18	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3475.1	53	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCGGCC	NONE	.	.	Pfam_domain:PF07258,hmmpanther:PTHR16231:SF0,hmmpanther:PTHR16231	.	.	ENSP00000370984	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000381571	Transcript	.	.	ENSG00000169019	26036	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.719)	.	tolerated(0.05)	.	COMD8_HUMAN	COMMD8	HGNC	.	.	UPI000006D05A	SNV	COMMD8,missense_variant,p.Glu18Val,ENST00000381571,;COMMD8,non_coding_transcript_exon_variant,,ENST00000509220,;	121	47	55	SUCCESS
NMU	10874	.	GRCh37	4	56502369	56502369	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	28	0	ENST00000264218.3:c.-10A>T		p.*4*	ENST00000264218	NM_006681.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3501.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCTGCGGG	NONE	.	.	.	.	.	ENSP00000264218	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000264218	Transcript	.	.	ENSG00000109255	7859	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMU_HUMAN	NMU	HGNC	.	.	UPI000012FF95	SNV	NMU,5_prime_UTR_variant,,ENST00000511469,;NMU,5_prime_UTR_variant,,ENST00000507338,;NMU,5_prime_UTR_variant,,ENST00000505262,;NMU,5_prime_UTR_variant,,ENST00000264218,;NMU,intron_variant,,ENST00000515325,;	97	28	28	SUCCESS
WDFY3	23001	.	GRCh37	4	85701395	85701395	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	84	0	ENST00000295888.4:c.4231G>C	p.Ala1411Pro	p.A1411P	ENST00000295888	NM_014991.4	1411	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS3609.1	4231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCTCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	26/68	.	.	.	.	.	.	.	.	.	26/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.01)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Ala1411Pro,ENST00000295888,;WDFY3,missense_variant,p.Ala1411Pro,ENST00000322366,;	4639	85	57	SUCCESS
FAM13A	10144	.	GRCh37	4	89689194	89689194	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	30	193	0	ENST00000264344.5:c.1475A>C	p.Asn492Thr	p.N492T	ENST00000264344	NM_014883.3	492	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS34029.1	1475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATTGAGA	NONE	.	.	hmmpanther:PTHR15904:SF18,hmmpanther:PTHR15904	.	.	ENSP00000264344	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000264344	Transcript	1	.	ENSG00000138640	19367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.21)	.	FA13A_HUMAN	FAM13A	HGNC	B4DPB4_HUMAN	.	UPI0000481AF3	SNV	FAM13A,missense_variant,p.Asn78Thr,ENST00000511976,;FAM13A,missense_variant,p.Asn166Thr,ENST00000508369,;FAM13A,missense_variant,p.Asn492Thr,ENST00000264344,;FAM13A,missense_variant,p.Asn152Thr,ENST00000503556,;FAM13A,missense_variant,p.Asn166Thr,ENST00000395002,;FAM13A,missense_variant,p.Asn138Thr,ENST00000513837,;FAM13A,non_coding_transcript_exon_variant,,ENST00000502459,;FAM13A,missense_variant,p.Asn152Thr,ENST00000504836,;FAM13A,non_coding_transcript_exon_variant,,ENST00000502914,;FAM13A,intron_variant,,ENST00000507352,;	1683	193	125	SUCCESS
RAD50	10111	.	GRCh37	5	131939173	131939173	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	79	216	0	ENST00000265335.6:c.2389A>G	p.Arg797Gly	p.R797G	ENST00000265335		797	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS34233.1	2389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGAGGTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18867:SF12,hmmpanther:PTHR18867,TIGRFAM_domain:TIGR00606	.	.	ENSP00000265335	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000265335	Transcript	1	.	ENSG00000113522	9816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	RAD50_HUMAN	RAD50	HGNC	C9JNH8_HUMAN,A8K3I2_HUMAN	.	UPI000006E9ED	SNV	RAD50,missense_variant,p.Arg658Gly,ENST00000378823,;RAD50,missense_variant,p.Arg797Gly,ENST00000265335,;RAD50,non_coding_transcript_exon_variant,,ENST00000489420,;RAD50,downstream_gene_variant,,ENST00000496204,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,3_prime_UTR_variant,,ENST00000423956,;	2776	217	222	SUCCESS
LRRTM2	26045	.	GRCh37	5	138209107	138209107	+	synonymous_variant	Silent	SNP	A	A	G	rs757948391	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	87	0	ENST00000274711.6:c.1143T>C	p.Tyr381=	p.Y381=	ENST00000274711	NM_015564.2	381	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS47272.1	1143	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTATATTC	NONE	byFrequency	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF20	.	.	ENSP00000274711	.	2/2	.	.	.	.	.	.	.	.	rs757948391	2/2	PASS	ENST00000274711	Transcript	.	.	ENSG00000146006	19409	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRRT2_HUMAN	LRRTM2	HGNC	.	.	UPI0000070039	SNV	LRRTM2,synonymous_variant,p.%3D,ENST00000274711,;LRRTM2,3_prime_UTR_variant,,ENST00000518785,;CTNNA1,intron_variant,,ENST00000302763,;LRRTM2,intron_variant,,ENST00000521094,;CTNNA1,intron_variant,,ENST00000355078,;CTNNA1,intron_variant,,ENST00000518825,;CTNNA1,upstream_gene_variant,,ENST00000521640,;CTNNA1,upstream_gene_variant,,ENST00000517656,;CTNNA1,upstream_gene_variant,,ENST00000522013,;CTNNA1,upstream_gene_variant,,ENST00000520865,;CTNNA1,upstream_gene_variant,,ENST00000520260,;CTNNA1,upstream_gene_variant,,ENST00000518381,;CTNNA1,upstream_gene_variant,,ENST00000523298,;CTNNA1,upstream_gene_variant,,ENST00000523685,;CTNNA1,upstream_gene_variant,,ENST00000519634,;CTNNA1,upstream_gene_variant,,ENST00000540387,;CTNNA1,upstream_gene_variant,,ENST00000519768,;CTNNA1,upstream_gene_variant,,ENST00000519116,;CTNNA1,upstream_gene_variant,,ENST00000521683,;CTNNA1,upstream_gene_variant,,ENST00000517533,;CTNNA1,intron_variant,,ENST00000520400,;LRRTM2,downstream_gene_variant,,ENST00000523537,;CTNNA1,upstream_gene_variant,,ENST00000518263,;CTNNA1,upstream_gene_variant,,ENST00000522052,;CTNNA1,upstream_gene_variant,,ENST00000524292,;CTNNA1,intron_variant,,ENST00000521724,;CTNNA1,intron_variant,,ENST00000517534,;CTNNA1,intron_variant,,ENST00000523275,;	1522	87	95	SUCCESS
UBE2D2	7322	.	GRCh37	5	138994470	138994470	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	126	261	0	ENST00000398733.3:c.223C>A	p.His75Asn	p.H75N	ENST00000398733	NM_003339.2	75	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS43369.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATCATCCA	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF48,hmmpanther:PTHR24068,PROSITE_patterns:PS00183,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000381717	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000398733	Transcript	.	.	ENSG00000131508	12475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious_low_confidence(0)	.	UB2D2_HUMAN	UBE2D2	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN	.	UPI0000006BD0	SNV	UBE2D2,missense_variant,p.His46Asn,ENST00000505548,;UBE2D2,missense_variant,p.His46Asn,ENST00000511725,;UBE2D2,missense_variant,p.His75Asn,ENST00000398733,;UBE2D2,missense_variant,p.His46Asn,ENST00000505007,;UBE2D2,missense_variant,p.His46Asn,ENST00000253815,;UBE2D2,missense_variant,p.His75Asn,ENST00000398734,;UBE2D2,non_coding_transcript_exon_variant,,ENST00000511691,;UBE2D2,downstream_gene_variant,,ENST00000510470,;	849	261	246	SUCCESS
UBE2D2	7322	.	GRCh37	5	138994471	138994471	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	126	259	0	ENST00000398733.3:c.224A>T	p.His75Leu	p.H75L	ENST00000398733	NM_003339.2	75	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS43369.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCATCCAA	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF48,hmmpanther:PTHR24068,PROSITE_patterns:PS00183,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000381717	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000398733	Transcript	.	.	ENSG00000131508	12475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious_low_confidence(0)	.	UB2D2_HUMAN	UBE2D2	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN	.	UPI0000006BD0	SNV	UBE2D2,missense_variant,p.His46Leu,ENST00000505548,;UBE2D2,missense_variant,p.His46Leu,ENST00000511725,;UBE2D2,missense_variant,p.His75Leu,ENST00000398733,;UBE2D2,missense_variant,p.His46Leu,ENST00000505007,;UBE2D2,missense_variant,p.His46Leu,ENST00000253815,;UBE2D2,missense_variant,p.His75Leu,ENST00000398734,;UBE2D2,non_coding_transcript_exon_variant,,ENST00000511691,;UBE2D2,downstream_gene_variant,,ENST00000510470,;	850	259	246	SUCCESS
ANKHD1	54882	.	GRCh37	5	139908805	139908810	+	inframe_deletion	In_Frame_Del	DEL	ATGTCA	ATGTCA	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	ATGTCA	ATGTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	62	0	ENST00000360839.2:c.6277_6282del	p.Ser2093_Met2094del	p.S2093_M2094del	ENST00000360839	NM_017747.2	2092	ATGTCA/-	0	.	.	.	.	.	-	MS/-	protein_coding	YES	CCDS4224.1	6274-6279	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCCTATGTCAATGCC	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	deletion	ANKHD1,inframe_deletion,p.Ser544_Met545del,ENST00000432301,;ANKHD1,inframe_deletion,p.Ser584_Met585del,ENST00000435794,;ANKHD1,inframe_deletion,p.Ser2093_Met2094del,ENST00000360839,;ANKHD1,inframe_deletion,p.Ser476_Met477del,ENST00000544120,;ANKHD1,inframe_deletion,p.Ser2093_Met2094del,ENST00000297183,;ANKHD1,inframe_deletion,p.Ser615_Met616del,ENST00000433049,;ANKHD1-EIF4EBP3,inframe_deletion,p.Ser104_Met105del,ENST00000437495,;ANKHD1,inframe_deletion,p.Ser749_Met750del,ENST00000431508,;ANKHD1-EIF4EBP3,inframe_deletion,p.Ser2093_Met2094del,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000421134,;SNORD45,upstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,upstream_gene_variant,,ENST00000475148,;	6398-6403	62	78	SUCCESS
ANKHD1	54882	.	GRCh37	5	139917018	139917018	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750965639	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	65	130	0	ENST00000360839.2:c.7072G>T	p.Ala2358Ser	p.A2358S	ENST00000360839	NM_017747.2	2358	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4224.1	7072	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGCCAGT	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	31/36	.	.	.	.	.	.	.	.	rs750965639	31/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Ala750Ser,ENST00000432301,;ANKHD1,missense_variant,p.Ala16Ser,ENST00000421706,;ANKHD1,missense_variant,p.Ala849Ser,ENST00000435794,;ANKHD1,missense_variant,p.Ala2358Ser,ENST00000360839,;ANKHD1,missense_variant,p.Ala682Ser,ENST00000544120,;ANKHD1,missense_variant,p.Ala2358Ser,ENST00000297183,;ANKHD1,missense_variant,p.Ala897Ser,ENST00000433049,;ANKHD1-EIF4EBP3,missense_variant,p.Ala386Ser,ENST00000437495,;ANKHD1,missense_variant,p.Ala1031Ser,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Ala2358Ser,ENST00000532219,;SRA1,3_prime_UTR_variant,,ENST00000602657,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000495578,;ANKHD1,downstream_gene_variant,,ENST00000475148,;	7196	130	132	SUCCESS
PCDHA1	56147	.	GRCh37	5	140232475	140232475	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	137	209	0	ENST00000504120.2:c.2394+64206T>G		p.*798*	ENST00000504120	NM_018900.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54920.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ATTTTTTTTTT	NONE	.	.	.	.	.	ENSP00000436042	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,3_prime_UTR_variant,,ENST00000378122,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA10,upstream_gene_variant,,ENST00000506939,;PCDHA10,upstream_gene_variant,,ENST00000307360,;	.	209	234	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237595	140237595	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	75	0	ENST00000307360.5:c.1962C>G	p.Gly654=	p.G654=	ENST00000307360	NM_018901.2	654	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS54921.1	1962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCGAGCC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	1962	75	106	SUCCESS
PCDHB8	56128	.	GRCh37	5	140557499	140557499	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	312	31	239	0	ENST00000239444.2:c.-117A>G		p.*39*	ENST00000239444	NM_019120.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4250.1	.	MUTECT|MUSE|VARSCANS	.	TCTGGAGAGGA	NONE	.	.	.	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,5_prime_UTR_variant,,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	129	239	344	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140797663	140797663	+	synonymous_variant	Silent	SNP	G	G	T	rs772001018	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	124	0	ENST00000398594.2:c.237G>T	p.Ala79=	p.A79=	ENST00000398594	NM_018927.3	79	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47293.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCGCAGAG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	rs772001018	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,synonymous_variant,p.%3D,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	237	124	92	SUCCESS
KCTD16	57528	.	GRCh37	5	143853381	143853381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	223	53	246	0	ENST00000507359.3:c.991G>T	p.Gly331Cys	p.G331C	ENST00000507359	NM_020768.3	331	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS34260.1	991	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGGTCCC	NONE	.	.	hmmpanther:PTHR14499:SF28,hmmpanther:PTHR14499	.	.	ENSP00000426548	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000507359	Transcript	.	.	ENSG00000183775	29244	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.921)	.	tolerated(0.07)	.	KCD16_HUMAN	KCTD16	HGNC	.	.	UPI000004A046	SNV	KCTD16,missense_variant,p.Gly331Cys,ENST00000507359,;KCTD16,missense_variant,p.Gly331Cys,ENST00000512467,;	2082	246	276	SUCCESS
SPINK5	11005	.	GRCh37	5	147450013	147450013	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	269	18	308	0	ENST00000256084.7:c.209T>G	p.Leu70Arg	p.L70R	ENST00000256084	NM_006846.3	70	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS47300.1	209	MUTECT|MUSE	.	GATACTGTGAG	NONE	.	.	hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Gene3D:1.10.1890.10,Superfamily_domains:SSF100895	.	.	ENSP00000352936	.	3/34	.	.	.	.	.	.	.	.	.	3/34	PASS	ENST00000359874	Transcript	1	.	ENSG00000133710	15464	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ISK5_HUMAN	SPINK5	HGNC	.	.	UPI000020CF25	SNV	SPINK5,missense_variant,p.Leu51Arg,ENST00000521206,;SPINK5,missense_variant,p.Leu70Arg,ENST00000256084,;SPINK5,missense_variant,p.Leu51Arg,ENST00000508733,;SPINK5,missense_variant,p.Leu70Arg,ENST00000398454,;SPINK5,missense_variant,p.Leu70Arg,ENST00000359874,;SPINK5,missense_variant,p.Leu70Arg,ENST00000476697,;SPINK5,splice_region_variant,,ENST00000507988,;	282	308	287	SUCCESS
FOXI1	2299	.	GRCh37	5	169533520	169533520	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	88	0	ENST00000306268.6:c.559G>A	p.Asp187Asn	p.D187N	ENST00000306268		187	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS4372.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGACGAG	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785	.	.	ENSP00000304286	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000306268	Transcript	1	.	ENSG00000168269	3815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	FOXI1_HUMAN	FOXI1	HGNC	E0XEN6_HUMAN	.	UPI000013EB16	SNV	FOXI1,missense_variant,p.Asp187Asn,ENST00000449804,;FOXI1,missense_variant,p.Asp187Asn,ENST00000306268,;	620	88	93	SUCCESS
UBTD2	92181	.	GRCh37	5	171639023	171639023	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	11	130	1	ENST00000393792.2:c.516C>T	p.Asp172=	p.D172=	ENST00000393792	NM_152277.2	172	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS4379.2	516	MUTECT|MUSE|VARSCANS	.	ACTGTGTCTGT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR13609,hmmpanther:PTHR13609:SF10,Pfam_domain:PF00240,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	.	.	ENSP00000377381	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393792	Transcript	.	.	ENSG00000168246	24463	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBTD2_HUMAN	UBTD2	HGNC	B3KMW8_HUMAN,B2R886_HUMAN	.	UPI000020C12C	SNV	UBTD2,synonymous_variant,p.%3D,ENST00000393792,;	922	131	125	SUCCESS
CDHR2	54825	.	GRCh37	5	176019770	176019770	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	47	96	0	ENST00000261944.5:c.3781C>G	p.Gln1261Glu	p.Q1261E	ENST00000261944	NM_017675.4	1261	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS34297.1	3781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCAGGAA	NONE	.	.	.	.	.	ENSP00000424565	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000510636	Transcript	.	.	ENSG00000074276	18231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.82)	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,missense_variant,p.Gln1261Glu,ENST00000261944,;CDHR2,missense_variant,p.Gln1261Glu,ENST00000506348,;CDHR2,missense_variant,p.Gln1261Glu,ENST00000510636,;GPRIN1,downstream_gene_variant,,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000513031,;CDHR2,downstream_gene_variant,,ENST00000416365,;CDHR2,downstream_gene_variant,,ENST00000508085,;	4055	96	101	SUCCESS
TMED9	54732	.	GRCh37	5	177019635	177019635	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	103	206	0	ENST00000332598.6:c.244G>T	p.Gly82Trp	p.G82W	ENST00000332598	NM_017510.4	82	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS4428.1	244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGGGCTT	NONE	.	.	PROSITE_profiles:PS50866,hmmpanther:PTHR22811:SF37,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000330945	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000332598	Transcript	.	.	ENSG00000184840	24878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.09)	.	TMED9_HUMAN	TMED9	HGNC	.	.	UPI00001D6EC0	SNV	TMED9,missense_variant,p.Gly82Trp,ENST00000332598,;TMED9,upstream_gene_variant,,ENST00000507578,;TMED9,non_coding_transcript_exon_variant,,ENST00000505521,;TMED9,non_coding_transcript_exon_variant,,ENST00000513799,;TMED9,non_coding_transcript_exon_variant,,ENST00000507723,;TMED9,upstream_gene_variant,,ENST00000510499,;	301	206	199	SUCCESS
N4BP3	23138	.	GRCh37	5	177547301	177547301	+	synonymous_variant	Silent	SNP	G	G	T	rs374439291	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	18	81	0	ENST00000274605.5:c.453G>T	p.Thr151=	p.T151=	ENST00000274605	NM_015111.1	151	acG/acT	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS34307.1	453	RADIA|MUTECT|MUSE|VARSCANS	.	CACACGCTGGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR32274	.	T:0.0001	ENSP00000274605	.	3/5	.	.	.	.	.	.	.	.	rs374439291	3/5	PASS	ENST00000274605	Transcript	.	.	ENSG00000145911	29852	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	N4BP3_HUMAN	N4BP3	HGNC	.	.	UPI00001C1E2A	SNV	N4BP3,synonymous_variant,p.%3D,ENST00000274605,;	812	82	97	SUCCESS
CLK4	57396	.	GRCh37	5	178043910	178043910	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs751244289	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	200	53	261	0	ENST00000316308.4:c.515A>C	p.Lys172Thr	p.K172T	ENST00000316308	NM_020666.2	172	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS4437.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTTTGCCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000316948	.	5/13	.	.	.	.	.	.	.	.	rs751244289	5/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0)	.	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,missense_variant,p.Lys172Thr,ENST00000316308,;CLK4,downstream_gene_variant,,ENST00000520957,;RN7SKP70,downstream_gene_variant,,ENST00000516655,;CLK4,non_coding_transcript_exon_variant,,ENST00000522749,;CLK4,missense_variant,p.Lys142Gln,ENST00000522136,;CLK4,3_prime_UTR_variant,,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,downstream_gene_variant,,ENST00000523013,;CLK4,downstream_gene_variant,,ENST00000522556,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	684	261	253	SUCCESS
NIPBL	25836	.	GRCh37	5	36986168	36986168	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1097	259	1221	1	ENST00000282516.8:c.2886G>A	p.Lys962=	p.K962=	ENST00000282516	NM_133433.3	962	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3920.1	2886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAGAGGGA	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	10/47	.	.	.	.	.	.	.	.	.	10/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;	3385	1222	1357	SUCCESS
LRRC70	100130733	.	GRCh37	5	61875597	61875597	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	19	123	0	ENST00000334994.5:c.332A>G	p.Tyr111Cys	p.Y111C	ENST00000334994	NM_181506.4	111	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS47218.1	332	RADIA|MUTECT|MUSE|VARSCANS	.	TCTATATTTTC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF113,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000399441	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334994	Transcript	.	.	ENSG00000186105	35155	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.23)	.	LRR70_HUMAN	LRRC70	HGNC	.	.	UPI000004C632	SNV	LRRC70,missense_variant,p.Tyr111Cys,ENST00000334994,;IPO11,intron_variant,,ENST00000511713,;LRRC70,intron_variant,,ENST00000491184,;IPO11,intron_variant,,ENST00000409534,;IPO11,intron_variant,,ENST00000409296,;IPO11,intron_variant,,ENST00000325324,;LRRC70,intron_variant,,ENST00000448151,;IPO11,intron_variant,,ENST00000511133,;IPO11,intron_variant,,ENST00000424533,;IPO11,intron_variant,,ENST00000413749,;RP11-95I19.1,upstream_gene_variant,,ENST00000469402,;	571	123	144	SUCCESS
ZNF366	167465	.	GRCh37	5	71756336	71756336	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	50	0	ENST00000318442.5:c.988C>T	p.Gln330Ter	p.Q330*	ENST00000318442	NM_152625.1	330	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS4015.1	988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGCATCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390:SF38,hmmpanther:PTHR24390,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000313158	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000318442	Transcript	.	.	ENSG00000178175	18316	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN366_HUMAN	ZNF366	HGNC	F8W732_HUMAN	.	UPI000013C368	SNV	ZNF366,stop_gained,p.Gln330Ter,ENST00000318442,;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,downstream_gene_variant,,ENST00000514477,;	1479	50	41	SUCCESS
MYCT1	80177	.	GRCh37	6	153019044	153019044	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	130	0	ENST00000367245.5:c.7A>G	p.Thr3Ala	p.T3A	ENST00000367245	NM_025107.2	3	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5239.1	7	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGAACACAA	NONE	.	.	.	.	.	ENSP00000356214	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367245	Transcript	.	.	ENSG00000120279	23172	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.06)	.	MYCT1_HUMAN	MYCT1	HGNC	D6Q1S4_HUMAN	.	UPI0000073EDB	SNV	MYCT1,missense_variant,p.Thr3Ala,ENST00000367245,;MYCT1,missense_variant,p.Thr3Ala,ENST00000529453,;MYCT1,upstream_gene_variant,,ENST00000532295,;	15	130	133	SUCCESS
KIF25	3834	.	GRCh37	6	168442707	168442707	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	26	135	1	ENST00000354419.2:c.705A>T	p.Gly235=	p.G235=	ENST00000354419	NM_030615.2	235	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5305.1	705	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGAAGGAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF327,hmmpanther:PTHR24115,Pfam_domain:PF00225,SMART_domains:SM00129	.	.	ENSP00000388878	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,synonymous_variant,p.%3D,ENST00000351261,;KIF25,synonymous_variant,p.%3D,ENST00000354419,;KIF25,synonymous_variant,p.%3D,ENST00000443060,;	1096	137	172	SUCCESS
SMOC2	64094	.	GRCh37	6	168910605	168910605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	24	77	0	ENST00000356284.2:c.95T>C	p.Val32Ala	p.V32A	ENST00000356284	NM_001166412.1	32	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS5307.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGGATC	NONE	.	.	hmmpanther:PTHR12352:SF11,hmmpanther:PTHR12352	.	.	ENSP00000346537	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000354536	Transcript	.	.	ENSG00000112562	20323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	tolerated(0.12)	.	SMOC2_HUMAN	SMOC2	HGNC	B4DNB1_HUMAN	.	UPI0000072A56	SNV	SMOC2,missense_variant,p.Val32Ala,ENST00000356284,;SMOC2,missense_variant,p.Val32Ala,ENST00000354536,;	315	77	125	SUCCESS
ID4	3400	.	GRCh37	6	19838106	19838108	+	inframe_deletion	In_Frame_Del	DEL	GCG	GCG	-	rs537169414	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	GCG	GCG	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	20	0	ENST00000378700.3:c.138_140del	p.Ala48del	p.A48del	ENST00000378700	NM_001546.3	41	GCG/-	0	-:0	.	.	.	.	-	A/-	protein_coding	YES	CCDS4544.1	121-123	INDELOCATOR|VARSCANI	.	GCAGCCGCGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11723,hmmpanther:PTHR11723:SF6	.	-:0.0243	ENSP00000367972	.	1/3	.	.	.	.	.	.	.	.	rs769001140	1/3	PASS	ENST00000378700	Transcript	.	.	ENSG00000172201	5363	17	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ID4_HUMAN	ID4	HGNC	.	.	UPI000012D193	deletion	ID4,inframe_deletion,p.Ala48del,ENST00000378700,;RP1-167F1.2,intron_variant,,ENST00000432171,;	490-492	20	35	SUCCESS
TRIM10	10107	.	GRCh37	6	30122220	30122220	+	synonymous_variant	Silent	SNP	G	G	T	rs770972869	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	38	0	ENST00000449742.2:c.972C>A	p.Leu324=	p.L324=	ENST00000449742	NM_006778.3	324	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34375.1	972	RADIA|MUTECT|MUSE|VARSCANS	.	GACAAGAGGAG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF44,hmmpanther:PTHR24103,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000397073	.	7/7	.	.	.	.	.	.	.	.	rs770972869	7/7	PASS	ENST00000449742	Transcript	.	.	ENSG00000204613	10072	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI10_HUMAN	TRIM10	HGNC	.	.	UPI000000D736	SNV	TRIM10,synonymous_variant,p.%3D,ENST00000376704,;TRIM10,synonymous_variant,p.%3D,ENST00000449742,;	1048	38	48	SUCCESS
GPSM3	63940	.	GRCh37	6	32160279	32160279	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	39	0	ENST00000375040.3:c.12G>A	p.Glu4=	p.E4=	ENST00000375040	NM_001276501.1	4	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34419.1	12	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCTCAGC	NONE	.	.	hmmpanther:PTHR10098:SF99,hmmpanther:PTHR10098	.	.	ENSP00000364180	.	1/4	.	.	.	.	.	.	.	.	COSM4006408	1/4	PASS	ENST00000375040	Transcript	.	.	ENSG00000213654	13945	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	GPSM3_HUMAN	GPSM3	HGNC	.	.	UPI0000073FDF	SNV	GPSM3,synonymous_variant,p.%3D,ENST00000375043,;GPSM3,synonymous_variant,p.%3D,ENST00000375040,;GPSM3,5_prime_UTR_variant,,ENST00000487761,;NOTCH4,downstream_gene_variant,,ENST00000375023,;PBX2,upstream_gene_variant,,ENST00000375050,;NOTCH4,downstream_gene_variant,,ENST00000443903,;GPSM3,synonymous_variant,p.%3D,ENST00000472768,;PBX2,upstream_gene_variant,,ENST00000496171,;PBX2,upstream_gene_variant,,ENST00000480254,;PBX2,upstream_gene_variant,,ENST00000495300,;PBX2,upstream_gene_variant,,ENST00000478678,;NOTCH4,downstream_gene_variant,,ENST00000474612,;NOTCH4,downstream_gene_variant,,ENST00000491215,;	405	39	45	SUCCESS
VPS52	6293	.	GRCh37	6	33239255	33239255	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	43	0	ENST00000445902.2:c.90+108A>T		p.*30*	ENST00000445902	NM_022553.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4770.2	.	MUTECT|MUSE	.	GGTAATATCAC	NONE	.	.	.	.	.	ENSP00000409952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	MODIFIER	1/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,synonymous_variant,p.%3D,ENST00000482399,;VPS52,intron_variant,,ENST00000436044,;VPS52,intron_variant,,ENST00000445902,;RPS18,upstream_gene_variant,,ENST00000474973,;RPS18,upstream_gene_variant,,ENST00000439602,;VPS52,intron_variant,,ENST00000464425,;VPS52,intron_variant,,ENST00000463486,;VPS52,intron_variant,,ENST00000478934,;RPS18,upstream_gene_variant,,ENST00000476222,;RPS18,upstream_gene_variant,,ENST00000472218,;RPS18,upstream_gene_variant,,ENST00000496813,;RPS18,upstream_gene_variant,,ENST00000490191,;RPS18,upstream_gene_variant,,ENST00000479802,;VPS52,upstream_gene_variant,,ENST00000493379,;RPS18,upstream_gene_variant,,ENST00000474626,;VPS52,upstream_gene_variant,,ENST00000495755,;	.	43	75	SUCCESS
ITPR3	3710	.	GRCh37	6	33652240	33652240	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs748669362	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	11	87	0	ENST00000374316.5:c.5044C>T	p.Arg1682Trp	p.R1682W	ENST00000374316		1682	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4783.1	5044	MUTECT|MUSE|VARSCANS	.	GGGACCGGGTG	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	38/59	.	.	.	.	.	.	.	.	rs748669362	38/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.65)	.	deleterious(0.04)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Arg1682Trp,ENST00000374316,;ITPR3,missense_variant,p.Arg1682Trp,ENST00000605930,;	6104	87	124	SUCCESS
UHRF1BP1	54887	.	GRCh37	6	34835317	34835317	+	synonymous_variant	Silent	SNP	C	C	T	rs1371870477	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	23	112	0	ENST00000192788.5:c.3642C>T	p.Ala1214=	p.A1214=	ENST00000192788	NM_017754.3	1214	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43455.1	3642	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	.	.	ENSP00000192788	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000192788	Transcript	.	.	ENSG00000065060	21216	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	URFB1_HUMAN	UHRF1BP1	HGNC	.	.	UPI00001B654C	SNV	UHRF1BP1,synonymous_variant,p.%3D,ENST00000192788,;UHRF1BP1,synonymous_variant,p.%3D,ENST00000452449,;	3813	112	150	SUCCESS
PI16	221476	.	GRCh37	6	36922482	36922482	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	28	0	ENST00000373674.3:c.-55C>G		p.*19*	ENST00000373674	NM_153370.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34440.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGACTTTAA	NONE	.	.	.	.	.	ENSP00000362778	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000373674	Transcript	.	.	ENSG00000164530	21245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI16_HUMAN	PI16	HGNC	B4DXZ3_HUMAN	.	UPI000004C657	SNV	PI16,5_prime_UTR_variant,,ENST00000373674,;	274	28	60	SUCCESS
XPO5	57510	.	GRCh37	6	43492932	43492932	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	65	0	ENST00000265351.7:c.3087A>G	p.Leu1029=	p.L1029=	ENST00000265351	NM_020750.2	1029	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47430.1	3087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATTAATAG	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3	.	.	ENSP00000265351	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,synonymous_variant,p.%3D,ENST00000265351,;XPO5,synonymous_variant,p.%3D,ENST00000455285,;POLR1C,intron_variant,,ENST00000304004,;POLR1C,downstream_gene_variant,,ENST00000423780,;POLR1C,downstream_gene_variant,,ENST00000372389,;POLR1C,downstream_gene_variant,,ENST00000372344,;POLR1C,downstream_gene_variant,,ENST00000428025,;XPO5,3_prime_UTR_variant,,ENST00000486936,;XPO5,non_coding_transcript_exon_variant,,ENST00000488195,;XPO5,non_coding_transcript_exon_variant,,ENST00000455854,;XPO5,downstream_gene_variant,,ENST00000398835,;POLR1C,downstream_gene_variant,,ENST00000455605,;XPO5,downstream_gene_variant,,ENST00000450462,;POLR1C,downstream_gene_variant,,ENST00000488601,;POLR1C,downstream_gene_variant,,ENST00000481352,;	3298	65	67	SUCCESS
DST	667	.	GRCh37	6	56342211	56342211	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752769638	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	94	0	ENST00000244364.6:c.13738A>G	p.Ile4580Val	p.I4580V	ENST00000244364	NM_015548.4	4580	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47443.1	13738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATAGCCA	NONE	.	.	Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	72/84	.	.	.	.	.	.	.	.	.	72/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Ile6668Val,ENST00000446842,;DST,missense_variant,p.Ile4797Val,ENST00000370788,;DST,missense_variant,p.Ile4580Val,ENST00000244364,;DST,missense_variant,p.Ile7172Val,ENST00000370754,;DST,missense_variant,p.Ile6883Val,ENST00000361203,;DST,missense_variant,p.Ile6994Val,ENST00000370769,;DST,missense_variant,p.Ile4906Val,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000523943,;DST,non_coding_transcript_exon_variant,,ENST00000517840,;DST,upstream_gene_variant,,ENST00000492944,;	13946	94	92	SUCCESS
ZNF451	26036	.	GRCh37	6	57012444	57012444	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1233679294	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	24	88	0	ENST00000370706.4:c.1561C>T	p.His521Tyr	p.H521Y	ENST00000370706	NM_001031623.2	521	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS43477.1	1561	RADIA|MUTECT|MUSE|VARSCANS	.	GGATTCACGGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000359740	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.His521Tyr,ENST00000357489,;ZNF451,missense_variant,p.His521Tyr,ENST00000370706,;ZNF451,missense_variant,p.His521Tyr,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;RP11-203B9.4,downstream_gene_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	1805	88	136	SUCCESS
RIMS1	22999	.	GRCh37	6	72967920	72967920	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	43	0	ENST00000521978.1:c.2863T>C	p.Ser955Pro	p.S955P	ENST00000521978	NM_014989.5	955	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47449.1	2863	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTATCTCCT	BUFFER|p.R958C|c.2872C>T|3	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.04)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Ser955Pro,ENST00000491071,;RIMS1,missense_variant,p.Ser414Pro,ENST00000517827,;RIMS1,missense_variant,p.Ser348Pro,ENST00000453976,;RIMS1,missense_variant,p.Ser954Pro,ENST00000522291,;RIMS1,missense_variant,p.Ser46Pro,ENST00000522211,;RIMS1,missense_variant,p.Ser954Pro,ENST00000520567,;RIMS1,missense_variant,p.Ser955Pro,ENST00000518273,;RIMS1,missense_variant,p.Ser954Pro,ENST00000517960,;RIMS1,missense_variant,p.Ser529Pro,ENST00000517433,;RIMS1,missense_variant,p.Ser429Pro,ENST00000523963,;RIMS1,missense_variant,p.Ser348Pro,ENST00000425662,;RIMS1,missense_variant,p.Ser955Pro,ENST00000264839,;RIMS1,missense_variant,p.Ser428Pro,ENST00000401910,;RIMS1,missense_variant,p.Ser954Pro,ENST00000348717,;RIMS1,missense_variant,p.Ser180Pro,ENST00000370420,;RIMS1,missense_variant,p.Ser955Pro,ENST00000521978,;RIMS1,5_prime_UTR_variant,,ENST00000538414,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	2863	43	63	SUCCESS
COL12A1	1303	.	GRCh37	6	75843108	75843108	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	114	0	ENST00000322507.8:c.5695A>T	p.Ile1899Phe	p.I1899F	ENST00000322507	NM_004370.5	1899	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS43482.1	5695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATGGCAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	34/66	.	.	.	.	.	.	.	.	.	34/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Ile1899Phe,ENST00000416123,;COL12A1,missense_variant,p.Ile1899Phe,ENST00000322507,;COL12A1,missense_variant,p.Ile634Phe,ENST00000419671,;COL12A1,missense_variant,p.Ile1899Phe,ENST00000483888,;COL12A1,missense_variant,p.Ile735Phe,ENST00000345356,;	6005	114	134	SUCCESS
MYO6	4646	.	GRCh37	6	76596595	76596595	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	23	114	0	ENST00000369977.3:c.2542A>G	p.Lys848Glu	p.K848E	ENST00000369977	NM_004999.3	848	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS34487.1	2542	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAAAACGA	NONE	.	.	hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140	.	.	ENSP00000358994	.	25/35	.	.	.	.	.	.	.	.	.	25/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.61)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Lys848Glu,ENST00000369985,;MYO6,missense_variant,p.Lys848Glu,ENST00000369977,;MYO6,missense_variant,p.Lys848Glu,ENST00000369981,;MYO6,missense_variant,p.Lys848Glu,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;	2681	114	161	SUCCESS
MYO6	4646	.	GRCh37	6	76599977	76599977	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	464	81	457	0	ENST00000369977.3:c.2862G>A	p.Arg954=	p.R954=	ENST00000369977	NM_004999.3	954	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34487.1	2862	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGGCGGAT	NONE	.	.	hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000358994	.	26/35	.	.	.	.	.	.	.	.	.	26/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,synonymous_variant,p.%3D,ENST00000369985,;MYO6,synonymous_variant,p.%3D,ENST00000430435,;MYO6,synonymous_variant,p.%3D,ENST00000369977,;MYO6,synonymous_variant,p.%3D,ENST00000369981,;MYO6,synonymous_variant,p.%3D,ENST00000369975,;	3001	457	545	SUCCESS
EEF1E1	9521	.	GRCh37	6	8102760	8102760	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs111907540	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	19	0	ENST00000379715.5:c.-6C>T		p.*2*	ENST00000379715	NM_004280.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4507.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGGCCGT	NONE	.	.	.	.	.	ENSP00000369038	.	1/4	.	.	.	.	.	.	.	.	rs111907540	1/4	PASS	ENST00000379715	Transcript	.	.	ENSG00000124802	3212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MCA3_HUMAN	EEF1E1	HGNC	.	.	UPI000012ED5C	SNV	EEF1E1,5_prime_UTR_variant,,ENST00000379715,;EEF1E1,5_prime_UTR_variant,,ENST00000507463,;EEF1E1,5_prime_UTR_variant,,ENST00000429723,;EEF1E1,upstream_gene_variant,,ENST00000488226,;EEF1E1,upstream_gene_variant,,ENST00000502429,;EEF1E1-BLOC1S5,5_prime_UTR_variant,,ENST00000397456,;	52	19	33	SUCCESS
ACTL6B	51412	.	GRCh37	7	100246398	100246398	+	synonymous_variant	Silent	SNP	G	G	A	rs773998945	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	63	0	ENST00000160382.5:c.516C>T	p.Thr172=	p.T172=	ENST00000160382	NM_016188.4	172	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5702.1	516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGGGTGGC	NONE	byFrequency	.	hmmpanther:PTHR11937:SF196,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000160382	.	6/14	.	.	.	.	.	.	.	.	rs773998945	6/14	PASS	ENST00000160382	Transcript	.	.	ENSG00000077080	160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACL6B_HUMAN	ACTL6B	HGNC	C9JQT4_HUMAN	.	UPI0000126725	SNV	ACTL6B,synonymous_variant,p.%3D,ENST00000160382,;ACTL6B,downstream_gene_variant,,ENST00000461605,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000487225,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000485601,;ACTL6B,downstream_gene_variant,,ENST00000489904,;ACTL6B,upstream_gene_variant,,ENST00000487125,;	623	63	81	SUCCESS
ZAN	7455	.	GRCh37	7	100334233	100334233	+	synonymous_variant	Silent	SNP	C	C	T	rs1009306334	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	69	0	ENST00000546292.1:c.234C>T	p.Pro78=	p.P78=	ENST00000546292	NM_173059.1	78	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	.	234	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCGGGGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	.	.	ENSP00000445943	.	3/46	.	.	.	.	.	.	.	.	.	3/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	382	69	75	SUCCESS
ORC5	5001	.	GRCh37	7	103801580	103801580	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	22	104	0	ENST00000297431.4:c.1089A>G	p.Leu363=	p.L363=	ENST00000297431	NM_002553.3	363	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS5734.1	1089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCTAATAA	NONE	.	.	hmmpanther:PTHR12705,Pfam_domain:PF14630	.	.	ENSP00000297431	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000297431	Transcript	.	.	ENSG00000164815	8491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ORC5_HUMAN	ORC5	HGNC	Q9UDM8_HUMAN,Q8NDU9_HUMAN,B4DXT8_HUMAN,A4D0P7_HUMAN	.	UPI0000001C1C	SNV	ORC5,synonymous_variant,p.%3D,ENST00000297431,;ORC5,synonymous_variant,p.%3D,ENST00000545943,;ORC5,3_prime_UTR_variant,,ENST00000422497,;ORC5,non_coding_transcript_exon_variant,,ENST00000477223,;	1232	104	110	SUCCESS
CADPS2	93664	.	GRCh37	7	121985695	121985695	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	57	0	ENST00000449022.2:c.3545T>A	p.Val1182Asp	p.V1182D	ENST00000449022	NM_017954.10	1182	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS55158.1	3545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAACAAAC	NONE	.	.	hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	.	.	ENSP00000398481	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,missense_variant,p.Val1182Asp,ENST00000449022,;CADPS2,missense_variant,p.Val785Asp,ENST00000397721,;CADPS2,missense_variant,p.Val1180Asp,ENST00000334010,;CADPS2,missense_variant,p.Val376Asp,ENST00000462699,;CADPS2,missense_variant,p.Val1141Asp,ENST00000313070,;CADPS2,missense_variant,p.Val1141Asp,ENST00000412584,;RP5-1101C3.1,intron_variant,,ENST00000593910,;RP5-1101C3.1,intron_variant,,ENST00000591140,;RP5-1101C3.1,intron_variant,,ENST00000602199,;RP5-1101C3.1,intron_variant,,ENST00000482375,;RP5-1101C3.1,intron_variant,,ENST00000602012,;	3565	57	52	SUCCESS
GRM8	2918	.	GRCh37	7	126883030	126883030	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	101	0	ENST00000339582.2:c.229G>A	p.Glu77Lys	p.E77K	ENST00000339582		77	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5794.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCCAGTC	NONE	.	.	hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000344173	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Glu77Lys,ENST00000358373,;GRM8,missense_variant,p.Glu77Lys,ENST00000444921,;GRM8,missense_variant,p.Glu77Lys,ENST00000339582,;GRM8,missense_variant,p.Glu77Lys,ENST00000457830,;GRM8,missense_variant,p.Glu77Lys,ENST00000405249,;GRM8,downstream_gene_variant,,ENST00000412160,;GRM8,missense_variant,p.Glu77Lys,ENST00000472701,;GRM8,missense_variant,p.Glu77Lys,ENST00000341617,;	1038	101	83	SUCCESS
MKLN1	4289	.	GRCh37	7	131113817	131113817	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	95	0	ENST00000352689.6:c.873G>A	p.Trp291Ter	p.W291*	ENST00000352689	NM_013255.4	291	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS34754.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGATGG	NONE	.	.	hmmpanther:PTHR15526:SF5,hmmpanther:PTHR15526,Gene3D:1zgkA00,Pfam_domain:PF13415,Superfamily_domains:0052715	.	.	ENSP00000323527	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000352689	Transcript	.	.	ENSG00000128585	7109	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKLN1_HUMAN	MKLN1	HGNC	F8WEY7_HUMAN,C9JXB0_HUMAN,C9JWX9_HUMAN,C9JVL5_HUMAN,C9J7E8_HUMAN	.	UPI0000034CB0	SNV	MKLN1,stop_gained,p.Trp291Ter,ENST00000352689,;MKLN1,stop_gained,p.Trp199Ter,ENST00000421797,;MKLN1,3_prime_UTR_variant,,ENST00000458153,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494785,;	913	95	98	SUCCESS
KEL	3792	.	GRCh37	7	142640570	142640570	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	106	0	ENST00000355265.2:c.1703+3A>G		p.X568_splice	ENST00000355265	NM_000420.2	568		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34766.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCATACCTG	NONE	.	.	.	.	.	ENSP00000347409	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355265	Transcript	.	.	ENSG00000197993	6308	.	.	LOW	15/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KELL_HUMAN	KEL	HGNC	Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN	.	UPI000000D923	SNV	KEL,splice_region_variant,,ENST00000355265,;C7orf34,downstream_gene_variant,,ENST00000409607,;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,splice_region_variant,,ENST00000470850,;KEL,upstream_gene_variant,,ENST00000478969,;KEL,downstream_gene_variant,,ENST00000465697,;	.	106	53	SUCCESS
SSPO	0	.	GRCh37	7	149481932	149481932	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	49	1	ENST00000378016.2:n.2722G>A		p.*908*	ENST00000378016				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAGGGGCCTC	NONE	.	.	.	.	.	.	.	19/109	.	.	.	.	.	.	.	.	.	19/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000477518,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,downstream_gene_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000475488,;SSPO,downstream_gene_variant,,ENST00000493502,;	2722	50	53	SUCCESS
ATG9B	285973	.	GRCh37	7	150713250	150713250	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	64	0	ENST00000469530.3:n.74G>A		p.*25*	ENST00000469530		864		0	.	.	.	.	.	T	S/N	protein_coding	YES	.	2591	MUTECT|MUSE	.	AGGGGCTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038	.	.	ENSP00000475005	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000377974	Transcript	.	.	ENSG00000181652	21899	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.05)	.	.	ATG9B	HGNC	S4R430_HUMAN	.	UPI00015E055A	SNV	ATG9B,missense_variant,p.Ser350Asn,ENST00000444312,;ATG9B,missense_variant,p.Ser864Asn,ENST00000377974,;ATG9B,3_prime_UTR_variant,,ENST00000605938,;NOS3,downstream_gene_variant,,ENST00000461406,;NOS3,downstream_gene_variant,,ENST00000297494,;NOS3,downstream_gene_variant,,ENST00000475017,;ATG9B,downstream_gene_variant,,ENST00000605952,;ATG9B,non_coding_transcript_exon_variant,,ENST00000464855,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473698,;ATG9B,non_coding_transcript_exon_variant,,ENST00000486407,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,upstream_gene_variant,,ENST00000498521,;NOS3,downstream_gene_variant,,ENST00000477227,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,downstream_gene_variant,,ENST00000473409,;NOS3,downstream_gene_variant,,ENST00000468293,;ATG9B,non_coding_transcript_exon_variant,,ENST00000469530,;ATG9B,upstream_gene_variant,,ENST00000471797,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000473134,;NOS3,downstream_gene_variant,,ENST00000475454,;	2667	64	49	SUCCESS
FAM126A	84668	.	GRCh37	7	22985357	22985357	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	107	0	ENST00000432176.2:c.1417G>A	p.Gly473Arg	p.G473R	ENST00000432176	NM_032581.3	473	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5377.1	1417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCACAAC	NONE	.	.	hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF4	.	.	ENSP00000403396	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000432176	Transcript	.	.	ENSG00000122591	24587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	HYCCI_HUMAN	FAM126A	HGNC	.	.	UPI000006FF45	SNV	FAM126A,missense_variant,p.Gly473Arg,ENST00000432176,;FAM126A,3_prime_UTR_variant,,ENST00000440481,;FAM126A,3_prime_UTR_variant,,ENST00000409923,;AC005682.8,upstream_gene_variant,,ENST00000421730,;FAM126A,downstream_gene_variant,,ENST00000498833,;	1650	107	104	SUCCESS
HNRNPA2B1	3181	.	GRCh37	7	26232908	26232908	+	synonymous_variant	Silent	SNP	A	A	G	rs774142726	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	44	63	0	ENST00000354667.4:c.963T>C	p.Phe321=	p.F321=	ENST00000354667	NM_031243.2	321	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS43557.1	963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAAAGTT	NONE	.	.	hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012	.	.	ENSP00000346694	.	10/12	.	.	.	.	.	.	.	.	rs774142726,COSM1635261,COSM1635260	10/12	PASS	ENST00000354667	Transcript	.	.	ENSG00000122566	5033	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ROA2_HUMAN	HNRNPA2B1	HGNC	.	.	UPI000002F091	SNV	HNRNPA2B1,synonymous_variant,p.%3D,ENST00000354667,;HNRNPA2B1,synonymous_variant,p.%3D,ENST00000356674,;HNRNPA2B1,upstream_gene_variant,,ENST00000476233,;HNRNPA2B1,synonymous_variant,p.%3D,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,downstream_gene_variant,,ENST00000495810,;	1132	63	141	SUCCESS
HOXA3	3200	.	GRCh37	7	27149809	27149809	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	13	67	0	ENST00000317201.2:c.451G>A	p.Val151Met	p.V151M	ENST00000317201	NM_153631.2	151	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS5404.1	451	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACTGTGG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137	.	.	ENSP00000379640	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000396352	Transcript	.	.	ENSG00000105997	5104	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.14)	.	HXA3_HUMAN	HOXA3	HGNC	F2Z3A4_HUMAN,E5RIJ8_HUMAN,A4D182_HUMAN	.	UPI000012CF22	SNV	HOXA3,missense_variant,p.Val151Met,ENST00000396352,;HOXA3,missense_variant,p.Val151Met,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000521779,;HOXA-AS2,non_coding_transcript_exon_variant,,ENST00000518088,;HOXA-AS2,upstream_gene_variant,,ENST00000522193,;HOXA3,downstream_gene_variant,,ENST00000521401,;	651	67	105	SUCCESS
VPS41	27072	.	GRCh37	7	38783021	38783021	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	14	77	0	ENST00000310301.4:c.2103A>C	p.Leu701Phe	p.L701F	ENST00000310301	NM_014396.3	701	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS5457.1	2103	MUTECT|MUSE|VARSCANS	.	GAATATAAAAT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12616,Pfam_domain:PF00637,Gene3D:1.25.40.10,SMART_domains:SM00299,PIRSF_domain:PIRSF028921	.	.	ENSP00000309457	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000310301	Transcript	.	.	ENSG00000006715	12713	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.447)	.	deleterious(0.05)	.	VPS41_HUMAN	VPS41	HGNC	Q75MS2_HUMAN,C9J2U9_HUMAN	.	UPI000000DAB7	SNV	VPS41,missense_variant,p.Leu701Phe,ENST00000310301,;VPS41,missense_variant,p.Leu42Phe,ENST00000439468,;VPS41,missense_variant,p.Leu676Phe,ENST00000395969,;VPS41,missense_variant,p.Leu49Phe,ENST00000448833,;VPS41,non_coding_transcript_exon_variant,,ENST00000482217,;	2158	77	143	SUCCESS
MRPL32	64983	.	GRCh37	7	42972003	42972003	+	synonymous_variant	Silent	SNP	G	G	A	rs113789800	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	49	88	0	ENST00000223324.2:c.18G>A	p.Leu6=	p.L6=	ENST00000223324	NM_031903.2	6	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5468.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTGGTCTT	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR21026,hmmpanther:PTHR21026:SF2	.	.	ENSP00000223324	.	1/3	.	.	.	.	.	.	.	.	rs113789800,COSM1549840	1/3	PASS	ENST00000223324	Transcript	.	.	ENSG00000106591	14035	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	RM32_HUMAN	MRPL32	HGNC	A4D1V4_HUMAN	.	UPI00001342E5	SNV	MRPL32,synonymous_variant,p.%3D,ENST00000223324,;PSMA2,upstream_gene_variant,,ENST00000538645,;PSMA2,upstream_gene_variant,,ENST00000445517,;PSMA2,upstream_gene_variant,,ENST00000223321,;MRPL32,upstream_gene_variant,,ENST00000496564,;MRPL32,synonymous_variant,p.%3D,ENST00000432845,;PSMA2,upstream_gene_variant,,ENST00000433579,;MRPL32,upstream_gene_variant,,ENST00000413995,;PSMA2,upstream_gene_variant,,ENST00000442788,;PSMA2,upstream_gene_variant,,ENST00000457444,;PSMA2,upstream_gene_variant,,ENST00000411875,;PSMA2,upstream_gene_variant,,ENST00000436986,;	205	88	124	SUCCESS
COL28A1	340267	.	GRCh37	7	7571326	7571326	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	43	222	0	ENST00000399429.3:c.334A>C	p.Lys112Gln	p.K112Q	ENST00000399429	NM_001037763.2	112	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS43553.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTTCCAGG	NONE	.	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000382356	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	tolerated(0.29)	.	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,missense_variant,p.Lys112Gln,ENST00000399429,;	475	222	202	SUCCESS
SEMA3E	9723	.	GRCh37	7	83037794	83037794	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	21	99	0	ENST00000307792.3:c.560T>A	p.Leu187Ter	p.L187*	ENST00000307792	NM_012431.2	187	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS34674.1	560	RADIA|MUTECT|MUSE|VARSCANS	.	CAAACAATTCA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000303212	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,stop_gained,p.Leu127Ter,ENST00000427262,;SEMA3E,stop_gained,p.Leu187Ter,ENST00000307792,;SEMA3E,stop_gained,p.Leu127Ter,ENST00000442159,;	1028	99	117	SUCCESS
AKAP9	10142	.	GRCh37	7	91726119	91726119	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	26	163	1	ENST00000356239.3:c.9846G>T	p.Met3282Ile	p.M3282I	ENST00000356239	NM_147185.2	3282	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS5622.1	9846	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGCTATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF10,hmmpanther:PTHR18932	.	.	ENSP00000348573	.	41/50	.	.	.	.	.	.	.	.	.	41/50	PASS	ENST00000356239	Transcript	.	.	ENSG00000127914	379	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,missense_variant,p.Met3282Ile,ENST00000356239,;AKAP9,missense_variant,p.Met3286Ile,ENST00000359028,;AKAP9,missense_variant,p.Met1128Ile,ENST00000394534,;AKAP9,missense_variant,p.Met3232Ile,ENST00000358100,;AKAP9,non_coding_transcript_exon_variant,,ENST00000487258,;AKAP9,upstream_gene_variant,,ENST00000463118,;AKAP9,upstream_gene_variant,,ENST00000487692,;	10079	164	179	SUCCESS
ASB4	51666	.	GRCh37	7	95125087	95125087	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	93	0	ENST00000325885.5:c.205T>C	p.Tyr69His	p.Y69H	ENST00000325885	NM_016116.2	69	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS5641.1	205	RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCTATAAA	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24188:SF26,hmmpanther:PTHR24188	.	.	ENSP00000321388	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000325885	Transcript	.	.	ENSG00000005981	16009	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ASB4_HUMAN	ASB4	HGNC	.	.	UPI00001260E8	SNV	ASB4,missense_variant,p.Tyr69His,ENST00000325885,;ASB4,missense_variant,p.Tyr69His,ENST00000428113,;ASB4,non_coding_transcript_exon_variant,,ENST00000257621,;	276	93	93	SUCCESS
VPS13B	157680	.	GRCh37	8	100115264	100115264	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	17	150	0	ENST00000358544.2:c.496G>T	p.Asp166Tyr	p.D166Y	ENST00000358544	NM_017890.4	166	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS6280.1	496	MUTECT|MUSE	.	AAGATGATATC	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	5/62	.	.	.	.	.	.	.	.	.	5/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Asp166Tyr,ENST00000441350,;VPS13B,missense_variant,p.Asp166Tyr,ENST00000355155,;VPS13B,missense_variant,p.Asp166Tyr,ENST00000395996,;VPS13B,missense_variant,p.Asp166Tyr,ENST00000358544,;VPS13B,missense_variant,p.Asp166Tyr,ENST00000357162,;VPS13B,upstream_gene_variant,,ENST00000524330,;VPS13B,missense_variant,p.Asp166Tyr,ENST00000496144,;	607	150	238	SUCCESS
VPS13B	157680	.	GRCh37	8	100874106	100874106	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749073153	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	25	70	0	ENST00000358544.2:c.11222G>A	p.Arg3741Gln	p.R3741Q	ENST00000358544	NM_017890.4	3741	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6280.1	11222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGCAGC	NONE	byFrequency	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0,Pfam_domain:PF09333	.	.	ENSP00000351346	.	58/62	.	.	.	.	.	.	.	.	rs749073153	58/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.553)	.	deleterious(0)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Arg3741Gln,ENST00000358544,;VPS13B,missense_variant,p.Arg3716Gln,ENST00000357162,;VPS13B,3_prime_UTR_variant,,ENST00000395996,;	11333	70	133	SUCCESS
SLC25A32	81034	.	GRCh37	8	104415433	104415433	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	13	79	0	ENST00000297578.4:c.511G>C	p.Val171Leu	p.V171L	ENST00000297578	NM_030780.4	171	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS6300.1	511	MUTECT|MUSE|VARSCANS	.	TTTCACAAGTG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF62,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000297578	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000297578	Transcript	.	.	ENSG00000164933	29683	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.69)	.	MFTC_HUMAN	SLC25A32	HGNC	B4DUQ5_HUMAN	.	UPI0000040C0F	SNV	SLC25A32,missense_variant,p.Val39Leu,ENST00000543107,;SLC25A32,missense_variant,p.Val171Leu,ENST00000297578,;SLC25A32,upstream_gene_variant,,ENST00000523701,;SLC25A32,3_prime_UTR_variant,,ENST00000523866,;SLC25A32,intron_variant,,ENST00000521645,;SLC25A32,intron_variant,,ENST00000523256,;	678	79	139	SUCCESS
ANGPT1	284	.	GRCh37	8	108296966	108296966	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	9	126	0	ENST00000517746.1:c.1149C>G	p.Asn383Lys	p.N383K	ENST00000517746	NM_001199859.1	383	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS6306.1	1149	MUTECT|MUSE	.	GCTCGGTTCCC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000428340	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000517746	Transcript	.	.	ENSG00000154188	484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.171)	.	deleterious(0.01)	.	ANGP1_HUMAN	ANGPT1	HGNC	E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN	.	UPI0000034766	SNV	ANGPT1,missense_variant,p.Asn183Lys,ENST00000520734,;ANGPT1,missense_variant,p.Asn383Lys,ENST00000517746,;ANGPT1,missense_variant,p.Asn182Lys,ENST00000520052,;ANGPT1,missense_variant,p.Asn382Lys,ENST00000297450,;ANGPT1,intron_variant,,ENST00000518386,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000522400,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000521950,;	1601	126	164	SUCCESS
EBAG9	9166	.	GRCh37	8	110567069	110567069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	48	112	0	ENST00000337573.5:c.274C>A	p.Pro92Thr	p.P92T	ENST00000337573	NM_004215.4	92	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS6313.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACCTGAC	NONE	.	.	hmmpanther:PTHR15208,PIRSF_domain:PIRSF034247	.	.	ENSP00000337675	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000337573	Transcript	.	.	ENSG00000147654	3123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	tolerated(0.15)	.	RCAS1_HUMAN	EBAG9	HGNC	Q6R3F1_HUMAN,E9PN10_HUMAN,E9PJ40_HUMAN,E9PJ38_HUMAN	.	UPI000013343D	SNV	EBAG9,missense_variant,p.Pro92Thr,ENST00000530629,;EBAG9,missense_variant,p.Pro92Thr,ENST00000337573,;EBAG9,missense_variant,p.Pro92Thr,ENST00000531677,;EBAG9,missense_variant,p.Pro92Thr,ENST00000395785,;EBAG9,5_prime_UTR_variant,,ENST00000529931,;EBAG9,downstream_gene_variant,,ENST00000534318,;EBAG9,non_coding_transcript_exon_variant,,ENST00000529502,;EBAG9,missense_variant,p.Pro92Thr,ENST00000527709,;	574	112	160	SUCCESS
KIAA0196	0	.	GRCh37	8	126079914	126079914	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	29	139	0	ENST00000318410.7:c.1198C>T	p.Leu400=	p.L400=	ENST00000318410	NM_014846.3	400	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6355.1	1198	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGAATCT	NONE	.	.	hmmpanther:PTHR15691,Pfam_domain:PF10266	.	.	ENSP00000318016	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000318410	Transcript	1	.	ENSG00000164961	28984	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STRUM_HUMAN	KIAA0196	HGNC	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN	.	UPI000013943B	SNV	KIAA0196,synonymous_variant,p.%3D,ENST00000517845,;KIAA0196,synonymous_variant,p.%3D,ENST00000318410,;	1548	139	257	SUCCESS
DOCK5	80005	.	GRCh37	8	25154121	25154121	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	118	0	ENST00000276440.7:c.563A>T	p.Glu188Val	p.E188V	ENST00000276440	NM_024940.6	188	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6047.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGAGGTGG	NONE	.	.	hmmpanther:PTHR23317:SF68,hmmpanther:PTHR23317	.	.	ENSP00000276440	.	7/52	.	.	.	.	.	.	.	.	.	7/52	PASS	ENST00000276440	Transcript	.	.	ENSG00000147459	23476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	DOCK5_HUMAN	DOCK5	HGNC	.	.	UPI000022D4F3	SNV	DOCK5,missense_variant,p.Glu188Val,ENST00000276440,;DOCK5,missense_variant,p.Glu188Val,ENST00000481100,;DOCK5,upstream_gene_variant,,ENST00000444569,;DOCK5,non_coding_transcript_exon_variant,,ENST00000495236,;	607	118	76	SUCCESS
ADAM18	8749	.	GRCh37	8	39564351	39564351	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	36	125	0	ENST00000265707.5:c.1945A>C	p.Arg649=	p.R649=	ENST00000265707	NM_014237.2	649	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS6113.1	1945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATAGACCT	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28	.	.	ENSP00000265707	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,synonymous_variant,p.%3D,ENST00000541111,;ADAM18,synonymous_variant,p.%3D,ENST00000265707,;ADAM18,synonymous_variant,p.%3D,ENST00000379866,;ADAM18,non_coding_transcript_exon_variant,,ENST00000523755,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;ADAM18,non_coding_transcript_exon_variant,,ENST00000524117,;	1990	125	59	SUCCESS
VCPIP1	80124	.	GRCh37	8	67547274	67547274	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	82	0	ENST00000310421.4:c.3131G>A	p.Arg1044Lys	p.R1044K	ENST00000310421	NM_025054.4	1044	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS6192.1	3131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTCTTGGA	NONE	.	.	hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF1	.	.	ENSP00000309031	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000310421	Transcript	.	.	ENSG00000175073	30897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.41)	.	VCIP1_HUMAN	VCPIP1	HGNC	.	.	UPI00001D3EF3	SNV	VCPIP1,missense_variant,p.Arg1044Lys,ENST00000310421,;	3390	82	70	SUCCESS
TERF1	7013	.	GRCh37	8	73958317	73958317	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	206	273	0	ENST00000276603.5:c.1265A>G	p.Asp422Gly	p.D422G	ENST00000276603	NM_017489.2	422	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6211.1	1265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGACAGAT	NONE	.	.	PROSITE_profiles:PS51294,hmmpanther:PTHR21717,hmmpanther:PTHR21717:SF14,Gene3D:1.10.10.60,Pfam_domain:PF00249,SMART_domains:SM00717,PIRSF_domain:PIRSF038016,Superfamily_domains:SSF46689	.	.	ENSP00000276603	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000276603	Transcript	.	.	ENSG00000147601	11728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TERF1_HUMAN	TERF1	HGNC	.	.	UPI000013DAD5	SNV	TERF1,missense_variant,p.Asp402Gly,ENST00000276602,;TERF1,missense_variant,p.Asp422Gly,ENST00000276603,;RP11-531A24.7,upstream_gene_variant,,ENST00000607665,;TERF1,non_coding_transcript_exon_variant,,ENST00000518961,;	1288	273	432	SUCCESS
CNGB3	54714	.	GRCh37	8	87683169	87683169	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	65	0	ENST00000320005.5:c.493+3A>T		p.X165_splice	ENST00000320005	NM_019098.4	165		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6244.1	.	RADIA|MUSE|VARSCANS	.	ATGCTTACCAG	NONE	.	.	.	.	.	ENSP00000316605	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	LOW	4/17	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,splice_region_variant,,ENST00000320005,;	.	65	121	SUCCESS
NBN	4683	.	GRCh37	8	90996753	90996753	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	rs757112911	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	486	66	348	0	ENST00000265433.3:c.37G>T	p.Gly13Ter	p.G13*	ENST00000265433	NM_002485.4	13	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS6249.1	37	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTCCTG	NONE	.	.	hmmpanther:PTHR12162,Gene3D:2.60.200.20,PIRSF_domain:PIRSF011869,Superfamily_domains:SSF49879	.	.	ENSP00000265433	.	1/16	.	.	.	.	.	.	.	.	rs757112911	1/16	PASS	ENST00000265433	Transcript	1	.	ENSG00000104320	7652	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NBN_HUMAN	NBN	HGNC	E5RGR7_HUMAN,E5RGN7_HUMAN	.	UPI0000073BF4	SNV	NBN,stop_gained,p.Gly13Ter,ENST00000265433,;NBN,stop_gained,p.Gly13Ter,ENST00000519426,;NBN,upstream_gene_variant,,ENST00000517772,;NBN,upstream_gene_variant,,ENST00000517337,;NBN,upstream_gene_variant,,ENST00000409330,;NBN,stop_gained,p.Gly13Ter,ENST00000523444,;NBN,stop_gained,p.Gly13Ter,ENST00000396252,;NBN,splice_region_variant,,ENST00000494804,;	192	348	552	SUCCESS
RUNX1T1	862	.	GRCh37	8	93026961	93026961	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	21	84	0	ENST00000265814.3:c.314C>T	p.Ser105Phe	p.S105F	ENST00000265814	NM_001198628.1	105	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS56544.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	3/11	.	.	.	.	.	.	.	.	COSM3651791,COSM3651790,COSM3651789	3/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.845)	.	deleterious(0.02)	1,1,1	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Ser105Phe,ENST00000523168,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000517792,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000520583,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000522467,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000422361,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000521319,;RUNX1T1,missense_variant,p.Ser116Phe,ENST00000436581,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000360348,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000521553,;RUNX1T1,missense_variant,p.Ser78Phe,ENST00000518823,;RUNX1T1,missense_variant,p.Ser78Phe,ENST00000521733,;RUNX1T1,missense_variant,p.Ser78Phe,ENST00000518844,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000523629,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000520724,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000517919,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000519847,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000518992,;RUNX1T1,missense_variant,p.Ser105Phe,ENST00000265814,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000521054,;RUNX1T1,missense_variant,p.Ser68Phe,ENST00000520556,;RUNX1T1,missense_variant,p.Ser78Phe,ENST00000396218,;RUNX1T1,downstream_gene_variant,,ENST00000518317,;RUNX1T1,downstream_gene_variant,,ENST00000518832,;RUNX1T1,downstream_gene_variant,,ENST00000518954,;RUNX1T1,downstream_gene_variant,,ENST00000519061,;RUNX1T1,downstream_gene_variant,,ENST00000520974,;RUNX1T1,downstream_gene_variant,,ENST00000520428,;RUNX1T1,downstream_gene_variant,,ENST00000521375,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,downstream_gene_variant,,ENST00000520172,;RUNX1T1,downstream_gene_variant,,ENST00000522860,;RUNX1T1,downstream_gene_variant,,ENST00000522065,;RUNX1T1,downstream_gene_variant,,ENST00000522163,;RUNX1T1,downstream_gene_variant,,ENST00000518256,;RUNX1T1,3_prime_UTR_variant,,ENST00000519577,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000517493,;RUNX1T1,downstream_gene_variant,,ENST00000521897,;RUNX1T1,downstream_gene_variant,,ENST00000519422,;RUNX1T1,downstream_gene_variant,,ENST00000524215,;RUNX1T1,downstream_gene_variant,,ENST00000521902,;	358	84	114	SUCCESS
RUNX1T1	862	.	GRCh37	8	93088272	93088272	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	40	0	ENST00000265814.3:c.9T>A	p.Ser3=	p.S3=	ENST00000265814	NM_001198628.1	3	tcT/tcA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56544.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACAGATAT	NONE	.	.	.	.	.	ENSP00000402257	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,synonymous_variant,p.%3D,ENST00000523168,;RUNX1T1,synonymous_variant,p.%3D,ENST00000520583,;RUNX1T1,synonymous_variant,p.%3D,ENST00000522467,;RUNX1T1,synonymous_variant,p.%3D,ENST00000518449,;RUNX1T1,synonymous_variant,p.%3D,ENST00000518954,;RUNX1T1,synonymous_variant,p.%3D,ENST00000520974,;RUNX1T1,synonymous_variant,p.%3D,ENST00000523629,;RUNX1T1,synonymous_variant,p.%3D,ENST00000520428,;RUNX1T1,synonymous_variant,p.%3D,ENST00000517919,;RUNX1T1,synonymous_variant,p.%3D,ENST00000519847,;RUNX1T1,synonymous_variant,p.%3D,ENST00000518992,;RUNX1T1,synonymous_variant,p.%3D,ENST00000265814,;RUNX1T1,synonymous_variant,p.%3D,ENST00000521375,;RUNX1T1,5_prime_UTR_variant,,ENST00000518823,;RUNX1T1,5_prime_UTR_variant,,ENST00000519061,;RUNX1T1,5_prime_UTR_variant,,ENST00000518844,;RUNX1T1,intron_variant,,ENST00000518317,;RUNX1T1,intron_variant,,ENST00000518832,;RUNX1T1,intron_variant,,ENST00000521319,;RUNX1T1,intron_variant,,ENST00000436581,;RUNX1T1,intron_variant,,ENST00000360348,;RUNX1T1,intron_variant,,ENST00000520724,;RUNX1T1,intron_variant,,ENST00000520556,;RUNX1T1,upstream_gene_variant,,ENST00000517792,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520172,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000522860,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000522065,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000522163,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000518256,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,synonymous_variant,p.%3D,ENST00000517493,;RUNX1T1,synonymous_variant,p.%3D,ENST00000521897,;RUNX1T1,synonymous_variant,p.%3D,ENST00000519422,;RUNX1T1,synonymous_variant,p.%3D,ENST00000524215,;RUNX1T1,synonymous_variant,p.%3D,ENST00000519577,;RUNX1T1,synonymous_variant,p.%3D,ENST00000521902,;RUNX1T1,intron_variant,,ENST00000523290,;	.	40	71	SUCCESS
TEX10	54881	.	GRCh37	9	103092453	103092453	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	73	0	ENST00000374902.4:c.1251-2A>G		p.X417_splice	ENST00000374902	NM_017746.3	417		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6748.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTAGAAA	NONE	.	.	.	.	.	ENSP00000364037	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374902	Transcript	.	.	ENSG00000136891	25988	.	.	HIGH	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX10_HUMAN	TEX10	HGNC	.	.	UPI000013D052	SNV	TEX10,splice_acceptor_variant,,ENST00000537512,;TEX10,splice_acceptor_variant,,ENST00000429235,;TEX10,splice_acceptor_variant,,ENST00000374902,;TEX10,splice_acceptor_variant,,ENST00000535814,;	.	73	35	SUCCESS
GOLGA1	2800	.	GRCh37	9	127685404	127685404	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	33	0	ENST00000373555.4:c.531G>T	p.Gln177His	p.Q177H	ENST00000373555	NM_002077.3	177	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS6860.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTGGAA	NONE	.	.	hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF24	.	.	ENSP00000362656	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000373555	Transcript	.	.	ENSG00000136935	4424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GOGA1_HUMAN	GOLGA1	HGNC	Q5T165_HUMAN	.	UPI000013D059	SNV	GOLGA1,missense_variant,p.Gln177His,ENST00000373555,;GOLGA1,missense_variant,p.Gln95His,ENST00000475407,;GOLGA1,upstream_gene_variant,,ENST00000485337,;	865	33	19	SUCCESS
JAK2	3717	.	GRCh37	9	5073770	5073770	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs77375493	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	47	0	ENST00000381652.3:c.1849G>T	p.Val617Phe	p.V617F	ENST00000381652	NM_004972.3	617	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS6457.1	1849	RADIA|MUTECT|MUSE|VARSCANS	pathogenic,risk_factor	TATGTGTCTGT	SITE|p.V617F|c.1849G>T|34497,CODON|p.V617F|c.1848_1849TG>CT|3,BUFFER|p.C618R|c.1852T>C|4	byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000371067	.	14/25	.	.	.	.	.	.	.	.	rs77375493,COSM12600,COSM29117	14/25	common_in_exac	ENST00000381652	Transcript	.	.	ENSG00000096968	6192	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	probably_damaging(0.983)	.	deleterious(0)	0,1,1	JAK2_HUMAN	JAK2	HGNC	Q8IXP2_HUMAN,F5H5U8_HUMAN	.	UPI000012DA9E	SNV	JAK2,missense_variant,p.Val468Phe,ENST00000544510,;JAK2,missense_variant,p.Val617Phe,ENST00000539801,;JAK2,missense_variant,p.Val617Phe,ENST00000381652,;AL161450.1,downstream_gene_variant,,ENST00000601793,;	2343	47	56	SUCCESS
RLN1	6013	.	GRCh37	9	5335511	5335511	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	6	64	0	ENST00000223862.1:c.298G>A	p.Ala100Thr	p.A100T	ENST00000223862	NM_006911.3	100	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6462.1	298	MUTECT|MUSE|VARSCANS	.	GGCTGCCTTCA	NONE	.	.	hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF5,Pfam_domain:PF00049,SMART_domains:SM00078,Prints_domain:PR02004	.	.	ENSP00000223862	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000223862	Transcript	.	.	ENSG00000107018	10026	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.2)	.	REL1_HUMAN	RLN1	HGNC	.	.	UPI000002C183	SNV	RLN1,missense_variant,p.Ala100Thr,ENST00000223862,;RLN1,3_prime_UTR_variant,,ENST00000223858,;RLN1,non_coding_transcript_exon_variant,,ENST00000487557,;	425	64	75	SUCCESS
KIAA2026	158358	.	GRCh37	9	5920853	5920853	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	104	0	ENST00000399933.3:c.5143A>G	p.Thr1715Ala	p.T1715A	ENST00000399933	NM_001017969.2	1715	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	.	5143	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTTTTCA	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	tolerated(0.17)	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,missense_variant,p.Thr1685Ala,ENST00000381461,;KIAA2026,missense_variant,p.Thr1715Ala,ENST00000399933,;KIAA2026,missense_variant,p.Thr83Ala,ENST00000436015,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;	5143	104	90	SUCCESS
KIAA2026	158358	.	GRCh37	9	5968486	5968487	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	53	0	ENST00000399933.3:c.1744dup	p.Thr582AsnfsTer2	p.T582Nfs*2	ENST00000399933	NM_001017969.2	582	act/aAct	0	.	.	.	.	.	T	T/NX	protein_coding	YES	.	1744-1745	INDELOCATOR|VARSCANI	.	AATCAGTTTTT	NONE	.	.	hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	insertion	KIAA2026,frameshift_variant,p.Thr515AsnfsTer2,ENST00000513355,;KIAA2026,frameshift_variant,p.Thr582AsnfsTer2,ENST00000381461,;KIAA2026,frameshift_variant,p.Thr582AsnfsTer2,ENST00000399933,;KIAA2026,upstream_gene_variant,,ENST00000540714,;	1744-1745	53	60	SUCCESS
TRPM6	140803	.	GRCh37	9	77386661	77386661	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	53	0	ENST00000360774.1:c.3494T>C	p.Val1165Ala	p.V1165A	ENST00000360774	NM_017662.4	1165	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6647.1	3494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCACATCT	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	25/39	.	.	.	.	.	.	.	.	.	25/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.14)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Val1165Ala,ENST00000451710,;TRPM6,missense_variant,p.Val1160Ala,ENST00000449912,;TRPM6,missense_variant,p.Val1160Ala,ENST00000361255,;TRPM6,missense_variant,p.Val1165Ala,ENST00000376864,;TRPM6,missense_variant,p.Val1165Ala,ENST00000360774,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;	3732	53	23	SUCCESS
CETN2	1069	.	GRCh37	X	151997125	151997125	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	96	0	ENST00000370277.3:c.385G>A	p.Val129Met	p.V129M	ENST00000370277	NM_004344.1	129	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14716.1	385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGCGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF135,Gene3D:1.10.238.10,Pfam_domain:PF13833,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000359300	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000370277	Transcript	.	.	ENSG00000147400	1867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.655)	.	deleterious(0.04)	.	CETN2_HUMAN	CETN2	HGNC	.	.	UPI000012751A	SNV	CETN2,missense_variant,p.Val129Met,ENST00000370277,;NSDHL,upstream_gene_variant,,ENST00000440023,;NSDHL,upstream_gene_variant,,ENST00000432467,;NSDHL,upstream_gene_variant,,ENST00000370274,;CETN2,non_coding_transcript_exon_variant,,ENST00000493482,;	452	96	102	SUCCESS
TAB3	257397	.	GRCh37	X	30871043	30871043	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	16	0	ENST00000378933.1:c.1562A>G	p.His521Arg	p.H521R	ENST00000378933	NM_152787.3	521	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS14226.1	1562	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GTTGATGTAAC	NONE	.	.	hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000368215	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000378933	Transcript	.	.	ENSG00000157625	30681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	TAB3_HUMAN	TAB3	HGNC	.	.	UPI000013DF10	SNV	TAB3,missense_variant,p.His521Arg,ENST00000378930,;TAB3,missense_variant,p.His521Arg,ENST00000288422,;TAB3,missense_variant,p.His521Arg,ENST00000378932,;TAB3,missense_variant,p.His521Arg,ENST00000378933,;TAB3,upstream_gene_variant,,ENST00000378928,;TAB3-AS2,upstream_gene_variant,,ENST00000445240,;TAB3,missense_variant,p.His521Arg,ENST00000467136,;	1740	16	14	SUCCESS
CHM	1121	.	GRCh37	X	85218702	85218702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	31	0	ENST00000357749.2:c.670G>T	p.Gly224Cys	p.G224C	ENST00000357749	NM_000390.2	224	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS14454.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTTCTT	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,Gene3D:3.30.519.10,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000350386	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000357749	Transcript	.	.	ENSG00000188419	1940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	RAE1_HUMAN	CHM	HGNC	B4DRL9_HUMAN	.	UPI0000049C8C	SNV	CHM,missense_variant,p.Gly76Cys,ENST00000537751,;CHM,missense_variant,p.Gly224Cys,ENST00000357749,;CHM,intron_variant,,ENST00000467744,;	700	31	30	SUCCESS
PABPC5	140886	.	GRCh37	X	90691480	90691480	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	90	0	ENST00000312600.3:c.904G>C	p.Val302Leu	p.V302L	ENST00000312600	NM_080832.2	302	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS14460.1	904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGTGCCT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF241,hmmpanther:PTHR24011,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Superfamily_domains:SSF54928	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	deleterious(0.02)	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,missense_variant,p.Val302Leu,ENST00000312600,;PABPC5,missense_variant,p.Val138Leu,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	1118	91	89	SUCCESS
BTRC	8945	.	GRCh37	10	103292148	103292148	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1222223712	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	76	0	ENST00000370187.3:c.937G>A	p.Asp313Asn	p.D313N	ENST00000370187	NM_033637.3	313	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS7512.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGATCAG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000359206	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000370187	Transcript	1	.	ENSG00000166167	1144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	deleterious(0)	.	FBW1A_HUMAN	BTRC	HGNC	Q5T1W7_HUMAN	.	UPI00000012B5	SNV	BTRC,missense_variant,p.Asp277Asn,ENST00000408038,;BTRC,missense_variant,p.Asp313Asn,ENST00000370187,;BTRC,missense_variant,p.Asp272Asn,ENST00000393441,;BTRC,upstream_gene_variant,,ENST00000493877,;	1055	76	44	SUCCESS
FAM171A1	221061	.	GRCh37	10	15256459	15256459	+	synonymous_variant	Silent	SNP	C	C	T	rs149346946	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	86	0	ENST00000378116.4:c.1128G>A	p.Pro376=	p.P376=	ENST00000378116	NM_001010924.1	376	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS31154.1	1128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCGGGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	T:0.0001	ENSP00000367356	.	8/8	.	.	.	.	.	.	.	.	rs149346946	8/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,synonymous_variant,p.%3D,ENST00000378116,;FAM171A1,non_coding_transcript_exon_variant,,ENST00000477161,;	1135	86	94	SUCCESS
CACNB2	783	.	GRCh37	10	18429625	18429625	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs773142253	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	72	0	ENST00000324631.7:c.-41G>C		p.*14*	ENST00000324631	NM_201593.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7125.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGCCGGG	NONE	byFrequency	.	.	.	.	ENSP00000320025	.	1/14	.	.	.	.	.	.	.	.	rs773142253	1/14	PASS	ENST00000324631	Transcript	1	.	ENSG00000165995	1402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CACB2_HUMAN	CACNB2	HGNC	.	.	UPI00001AEA80	SNV	CACNB2,5_prime_UTR_variant,,ENST00000324631,;CACNB2,upstream_gene_variant,,ENST00000377328,;CACNB2,upstream_gene_variant,,ENST00000377331,;CACNB2,upstream_gene_variant,,ENST00000282343,;CACNB2,upstream_gene_variant,,ENST00000352115,;CACNB2,upstream_gene_variant,,ENST00000467034,;CACNB2,upstream_gene_variant,,ENST00000468177,;	20	72	71	SUCCESS
PLXDC2	84898	.	GRCh37	10	20290907	20290907	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	51	201	0	ENST00000377252.4:c.316C>T	p.Gln106Ter	p.Q106*	ENST00000377252	NM_032812.7	106	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS7132.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCAGATC	NONE	.	.	hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055	.	.	ENSP00000366460	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000377252	Transcript	.	.	ENSG00000120594	21013	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDC2_HUMAN	PLXDC2	HGNC	.	.	UPI0000048F2C	SNV	PLXDC2,stop_gained,p.Gln106Ter,ENST00000377242,;PLXDC2,stop_gained,p.Gln106Ter,ENST00000377252,;	1157	201	146	SUCCESS
ARMC3	219681	.	GRCh37	10	23235105	23235105	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	84	0	ENST00000298032.5:c.81A>T	p.Ala27=	p.A27=	ENST00000298032	NM_173081.3	27	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7142.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCAGCAAC	NONE	.	.	hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	.	.	ENSP00000298032	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000298032	Transcript	.	.	ENSG00000165309	30964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,synonymous_variant,p.%3D,ENST00000409983,;ARMC3,synonymous_variant,p.%3D,ENST00000409049,;ARMC3,synonymous_variant,p.%3D,ENST00000298032,;ARMC3,intron_variant,,ENST00000376528,;ARMC3,intron_variant,,ENST00000447081,;ARMC3,non_coding_transcript_exon_variant,,ENST00000468003,;ARMC3,non_coding_transcript_exon_variant,,ENST00000483596,;ARMC3,intron_variant,,ENST00000484642,;ARMC3,intron_variant,,ENST00000496741,;ARMC3,non_coding_transcript_exon_variant,,ENST00000465729,;	165	84	76	SUCCESS
ZNF33A	7581	.	GRCh37	10	38344426	38344426	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	128	0	ENST00000458705.2:c.1371A>G	p.Val457=	p.V457=	ENST00000458705		457	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44372.1	1374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTACACCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF204,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000363747	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374618	Transcript	.	.	ENSG00000189180	13096	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN33A_HUMAN	ZNF33A	HGNC	.	.	UPI0000161788	SNV	ZNF33A,synonymous_variant,p.%3D,ENST00000432900,;ZNF33A,synonymous_variant,p.%3D,ENST00000307441,;ZNF33A,synonymous_variant,p.%3D,ENST00000458705,;ZNF33A,synonymous_variant,p.%3D,ENST00000374618,;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;	1552	128	92	SUCCESS
ADK	132	.	GRCh37	10	75936527	75936527	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	39	0	ENST00000286621.2:c.66-23995T>A		p.*22*	ENST00000286621	NM_006721.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7343.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCTGAGTG	NONE	.	.	.	.	.	ENSP00000286621	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286621	Transcript	1	.	ENSG00000156110	257	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADK_HUMAN	ADK	HGNC	Q9HB33_HUMAN	.	UPI00001255EA	SNV	ADK,5_prime_UTR_variant,,ENST00000541550,;ADK,5_prime_UTR_variant,,ENST00000372734,;ADK,intron_variant,,ENST00000286621,;ADK,intron_variant,,ENST00000539909,;ADK,intron_variant,,ENST00000478611,;	.	39	24	SUCCESS
TNKS2	80351	.	GRCh37	10	93619284	93619284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	115	0	ENST00000371627.4:c.3160A>G	p.Met1054Val	p.M1054V	ENST00000371627	NM_025235.3	1054	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS7417.1	3160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTATGTTT	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	.	.	ENSP00000360689	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000371627	Transcript	.	.	ENSG00000107854	15677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0)	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,missense_variant,p.Met1054Val,ENST00000371627,;	3539	115	86	SUCCESS
ATM	472	.	GRCh37	11	108205694	108205694	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	38	156	0	ENST00000278616.4:c.8011-2A>T		p.X2671_splice	ENST00000278616	NM_000051.3	2671		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTAGGTGG	NONE	.	.	.	.	.	ENSP00000278616	.	.	.	.	.	.	.	.	.	.	CS053445	.	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	HIGH	54/62	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,splice_acceptor_variant,,ENST00000452508,;ATM,splice_acceptor_variant,,ENST00000278616,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000524755,;ATM,splice_acceptor_variant,,ENST00000533979,;ATM,splice_acceptor_variant,,ENST00000524792,;ATM,splice_acceptor_variant,,ENST00000525056,;C11orf65,intron_variant,,ENST00000527531,;ATM,downstream_gene_variant,,ENST00000533690,;	.	156	68	SUCCESS
F2	2147	.	GRCh37	11	46744939	46744939	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	40	116	0	ENST00000311907.5:c.430T>C	p.Ser144Pro	p.S144P	ENST00000311907	NM_000506.3	144	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31476.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTCCACT	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF8,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF001149,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000308541	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000311907	Transcript	.	.	ENSG00000180210	3535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.55)	.	THRB_HUMAN	F2	HGNC	Q8TD58_HUMAN,Q86WA1_HUMAN	.	UPI0000136ECD	SNV	F2,missense_variant,p.Ser144Pro,ENST00000530231,;F2,missense_variant,p.Ser144Pro,ENST00000311907,;F2,missense_variant,p.Ser134Pro,ENST00000442468,;F2,non_coding_transcript_exon_variant,,ENST00000490274,;F2,downstream_gene_variant,,ENST00000469189,;	486	116	112	SUCCESS
OR5D14	219436	.	GRCh37	11	55563878	55563878	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	67	0	ENST00000335605.1:c.847G>T	p.Val283Phe	p.V283F	ENST00000335605	NM_001004735.1	283	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS31508.1	847	RADIA|MUTECT|MUSE	.	CAGTTGTCAAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.468)	.	deleterious(0.01)	.	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,missense_variant,p.Val283Phe,ENST00000335605,;	847	67	61	SUCCESS
OR5I1	10798	.	GRCh37	11	55703216	55703216	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	131	0	ENST00000301532.3:c.661T>C	p.Phe221Leu	p.F221L	ENST00000301532	NM_006637.1	221	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7949.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAAGTAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000301532	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301532	Transcript	.	.	ENSG00000167825	8347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(1)	.	OR5I1_HUMAN	OR5I1	HGNC	.	.	UPI00000405D5	SNV	OR5I1,missense_variant,p.Phe221Leu,ENST00000301532,;	661	131	113	SUCCESS
CNTN5	53942	.	GRCh37	11	99715605	99715605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	41	151	1	ENST00000524871.1:c.299T>C	p.Val100Ala	p.V100A	ENST00000524871	NM_014361.3	100	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS53696.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTTTTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	tolerated(0.05)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Val100Ala,ENST00000279463,;CNTN5,missense_variant,p.Val100Ala,ENST00000524871,;CNTN5,missense_variant,p.Val100Ala,ENST00000528682,;CNTN5,missense_variant,p.Val100Ala,ENST00000527185,;CNTN5,missense_variant,p.Val26Ala,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	589	152	70	SUCCESS
GIT2	9815	.	GRCh37	12	110433993	110433993	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	127	1	ENST00000355312.3:c.37G>C	p.Asp13His	p.D13H	ENST00000355312	NM_057169.3	13	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS9138.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTCAGCGC	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF215,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405	.	.	ENSP00000347464	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000355312	Transcript	.	.	ENSG00000139436	4273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0)	.	GIT2_HUMAN	GIT2	HGNC	.	.	UPI000012B4C5	SNV	GIT2,missense_variant,p.Asp13His,ENST00000361006,;GIT2,missense_variant,p.Asp13His,ENST00000356259,;GIT2,missense_variant,p.Asp13His,ENST00000338373,;GIT2,missense_variant,p.Asp13His,ENST00000457474,;GIT2,missense_variant,p.Asp13His,ENST00000355312,;GIT2,missense_variant,p.Asp13His,ENST00000551209,;GIT2,missense_variant,p.Asp13His,ENST00000553118,;GIT2,missense_variant,p.Asp13His,ENST00000343646,;GIT2,missense_variant,p.Asp13His,ENST00000320063,;GIT2,missense_variant,p.Asp13His,ENST00000354574,;GIT2,missense_variant,p.Asp13His,ENST00000547815,;GIT2,missense_variant,p.Asp13His,ENST00000360185,;GIT2,5_prime_UTR_variant,,ENST00000550186,;ANKRD13A,upstream_gene_variant,,ENST00000261739,;ANKRD13A,upstream_gene_variant,,ENST00000550404,;GIT2,non_coding_transcript_exon_variant,,ENST00000548643,;GIT2,non_coding_transcript_exon_variant,,ENST00000551455,;GIT2,upstream_gene_variant,,ENST00000547267,;ANKRD13A,upstream_gene_variant,,ENST00000553025,;	37	128	101	SUCCESS
TAOK3	51347	.	GRCh37	12	118588895	118588895	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	88	0	ENST00000392533.3:c.2604A>T	p.Gln868His	p.Q868H	ENST00000392533	NM_016281.3	868	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS9188.1	2604	RADIA|MUTECT|MUSE	.	CGCTCTTGCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24361:SF187,hmmpanther:PTHR24361	.	.	ENSP00000376317	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000392533	Transcript	.	.	ENSG00000135090	18133	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.196)	.	tolerated(0.32)	.	TAOK3_HUMAN	TAOK3	HGNC	G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN	.	UPI000007231B	SNV	TAOK3,missense_variant,p.Gln868His,ENST00000392533,;TAOK3,missense_variant,p.Gln63His,ENST00000536979,;TAOK3,missense_variant,p.Gln408His,ENST00000537952,;TAOK3,missense_variant,p.Gln868His,ENST00000419821,;TAOK3,splice_region_variant,,ENST00000543709,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;	3095	88	69	SUCCESS
TAOK3	51347	.	GRCh37	12	118588900	118588900	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	88	0	ENST00000392533.3:c.2599A>T	p.Arg867Trp	p.R867W	ENST00000392533	NM_016281.3	867	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9188.1	2599	RADIA|MUTECT|MUSE	.	TTGCCTTTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24361:SF187,hmmpanther:PTHR24361	.	.	ENSP00000376317	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000392533	Transcript	.	.	ENSG00000135090	18133	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	TAOK3_HUMAN	TAOK3	HGNC	G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN	.	UPI000007231B	SNV	TAOK3,missense_variant,p.Arg867Trp,ENST00000392533,;TAOK3,missense_variant,p.Arg62Trp,ENST00000536979,;TAOK3,missense_variant,p.Arg407Trp,ENST00000537952,;TAOK3,missense_variant,p.Arg867Trp,ENST00000419821,;TAOK3,splice_region_variant,,ENST00000543709,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;	3090	88	70	SUCCESS
ZNF605	100289635	.	GRCh37	12	133502153	133502153	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs991264746	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	82	0	ENST00000360187.4:c.1732A>G	p.Ile578Val	p.I578V	ENST00000360187	NM_183238.3	578	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53850.1	1825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTATAATCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF120,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000376135	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392321	Transcript	.	.	ENSG00000196458	28068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.57)	.	ZN605_HUMAN	ZNF605	HGNC	.	.	UPI000058F1FC	SNV	ZNF605,missense_variant,p.Ile578Val,ENST00000360187,;ZNF605,missense_variant,p.Ile609Val,ENST00000392321,;CHFR,intron_variant,,ENST00000536932,;ZNF605,downstream_gene_variant,,ENST00000331711,;	2051	82	76	SUCCESS
BAZ2A	11176	.	GRCh37	12	57009334	57009334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	49	0	ENST00000551812.1:c.200C>T	p.Ser67Leu	p.S67L	ENST00000551812	NM_013449.3	67	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS44924.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGAAGTA	NONE	.	.	.	.	.	ENSP00000446880	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,missense_variant,p.Ser67Leu,ENST00000379441,;BAZ2A,missense_variant,p.Ser65Leu,ENST00000546695,;BAZ2A,missense_variant,p.Ser65Leu,ENST00000549506,;BAZ2A,missense_variant,p.Ser65Leu,ENST00000179765,;BAZ2A,missense_variant,p.Ser67Leu,ENST00000551812,;BAZ2A,missense_variant,p.Ser65Leu,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000551996,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000550730,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000551959,;BAZ2A,upstream_gene_variant,,ENST00000549327,;BAZ2A,upstream_gene_variant,,ENST00000547647,;	394	49	56	SUCCESS
RDH16	8608	.	GRCh37	12	57348907	57348907	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	109	0	ENST00000398138.3:c.355A>G	p.Thr119Ala	p.T119A	ENST00000398138	NM_003708.3	119	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS41797.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGTGGGCA	NONE	.	.	hmmpanther:PTHR24316:SF295,hmmpanther:PTHR24316,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000381206	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000398138	Transcript	.	.	ENSG00000139547	29674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.52)	.	RDH16_HUMAN	RDH16	HGNC	.	.	UPI000013D71C	SNV	RDH16,missense_variant,p.Thr119Ala,ENST00000398138,;RDH16,intron_variant,,ENST00000360752,;	1212	109	92	SUCCESS
CD163L1	283316	.	GRCh37	12	7548802	7548802	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	148	0	ENST00000313599.3:c.1939C>A	p.Leu647Ile	p.L647I	ENST00000313599		647	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS8577.1	1939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGAGCCAAA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000315945	.	8/20	.	.	.	.	.	.	.	.	COSM268856	8/20	PASS	ENST00000313599	Transcript	.	.	ENSG00000177675	30375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.976)	.	deleterious(0.03)	1	C163B_HUMAN	CD163L1	HGNC	F5H7R7_HUMAN	.	UPI000013F5AD	SNV	CD163L1,missense_variant,p.Leu186Ile,ENST00000545926,;CD163L1,missense_variant,p.Leu657Ile,ENST00000416109,;CD163L1,missense_variant,p.Leu647Ile,ENST00000313599,;CD163L1,missense_variant,p.Leu647Ile,ENST00000396630,;	1997	148	110	SUCCESS
PCCA	5095	.	GRCh37	13	101077934	101077934	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	66	190	1	ENST00000376285.1:c.1794G>T	p.Leu598=	p.L598=	ENST00000376285	NM_000282.3	598	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9496.2	1794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGGCTTC	BUFFER|p.S600L|c.1799C>T|3	.	.	hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866	.	.	ENSP00000365462	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000376285	Transcript	.	.	ENSG00000175198	8653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCCA_HUMAN	PCCA	HGNC	.	.	UPI0000070089	SNV	PCCA,synonymous_variant,p.%3D,ENST00000413170,;PCCA,synonymous_variant,p.%3D,ENST00000376286,;PCCA,synonymous_variant,p.%3D,ENST00000376279,;PCCA,synonymous_variant,p.%3D,ENST00000376285,;PCCA,synonymous_variant,p.%3D,ENST00000458283,;PCCA,synonymous_variant,p.%3D,ENST00000424527,;	1832	191	144	SUCCESS
PCDH8	5100	.	GRCh37	13	53422433	53422433	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	50	0	ENST00000377942.3:c.139G>A	p.Gly47Arg	p.G47R	ENST00000377942	NM_002590.3	47	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS9438.1	139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCGATGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF46,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000367177	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000377942	Transcript	.	.	ENSG00000136099	8660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PCDH8_HUMAN	PCDH8	HGNC	.	.	UPI0000072D47	SNV	PCDH8,missense_variant,p.Gly47Arg,ENST00000338862,;PCDH8,missense_variant,p.Gly47Arg,ENST00000377942,;	343	50	49	SUCCESS
IPO4	79711	.	GRCh37	14	24658032	24658032	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	37	1	ENST00000354464.6:c.-39T>A		p.*13*	ENST00000354464	NM_024658.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9616.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGAGGGGG	NONE	.	.	.	.	.	ENSP00000346453	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000354464	Transcript	.	.	ENSG00000196497	19426	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IPO4_HUMAN	IPO4	HGNC	Q6I9Y8_HUMAN,D3DS63_HUMAN	.	UPI000013CCB3	SNV	IPO4,5_prime_UTR_variant,,ENST00000354464,;TM9SF1,downstream_gene_variant,,ENST00000261789,;TM9SF1,downstream_gene_variant,,ENST00000530468,;TM9SF1,downstream_gene_variant,,ENST00000396854,;TM9SF1,downstream_gene_variant,,ENST00000524835,;TM9SF1,downstream_gene_variant,,ENST00000530611,;IPO4,upstream_gene_variant,,ENST00000561462,;TM9SF1,downstream_gene_variant,,ENST00000528010,;TM9SF1,downstream_gene_variant,,ENST00000528669,;TM9SF1,downstream_gene_variant,,ENST00000532632,;TM9SF1,downstream_gene_variant,,ENST00000556387,;TM9SF1,downstream_gene_variant,,ENST00000525592,;TM9SF1,downstream_gene_variant,,ENST00000528895,;TM9SF1,downstream_gene_variant,,ENST00000530563,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,5_prime_UTR_variant,,ENST00000560155,;IPO4,5_prime_UTR_variant,,ENST00000559253,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,upstream_gene_variant,,ENST00000558193,;IPO4,upstream_gene_variant,,ENST00000560798,;IPO4,upstream_gene_variant,,ENST00000561090,;IPO4,upstream_gene_variant,,ENST00000557996,;TM9SF1,downstream_gene_variant,,ENST00000531406,;IPO4,upstream_gene_variant,,ENST00000561199,;IPO4,upstream_gene_variant,,ENST00000560315,;IPO4,upstream_gene_variant,,ENST00000561034,;IPO4,upstream_gene_variant,,ENST00000560222,;IPO4,upstream_gene_variant,,ENST00000558046,;TM9SF1,downstream_gene_variant,,ENST00000529332,;IPO4,upstream_gene_variant,,ENST00000559635,;IPO4,upstream_gene_variant,,ENST00000558780,;IPO4,upstream_gene_variant,,ENST00000558718,;	139	38	34	SUCCESS
AKAP6	9472	.	GRCh37	14	33290708	33290708	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	32	156	0	ENST00000280979.4:c.3689G>T	p.Ser1230Ile	p.S1230I	ENST00000280979	NM_004274.4	1230	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS9644.1	3689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTAGTTTGA	NONE	.	.	hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	.	.	ENSP00000280979	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000280979	Transcript	.	.	ENSG00000151320	376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	AKAP6_HUMAN	AKAP6	HGNC	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN	.	UPI000013DC48	SNV	AKAP6,missense_variant,p.Ser1230Ile,ENST00000280979,;AKAP6,intron_variant,,ENST00000557272,;	3859	156	122	SUCCESS
FANCM	57697	.	GRCh37	14	45658071	45658071	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	56	186	0	ENST00000267430.5:c.4846G>A	p.Gly1616Ser	p.G1616S	ENST00000267430	NM_020937.2	1616	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32070.1	4846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGGCCAA	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Gly549Ser,ENST00000554809,;FANCM,missense_variant,p.Gly1590Ser,ENST00000542564,;FANCM,missense_variant,p.Gly1132Ser,ENST00000556250,;FANCM,missense_variant,p.Gly1616Ser,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	4931	186	164	SUCCESS
VSX2	338917	.	GRCh37	14	74727375	74727375	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	131	380	0	ENST00000261980.2:c.839T>C	p.Leu280Pro	p.L280P	ENST00000261980	NM_182894.2	280	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9827.1	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTCGACA	NONE	.	.	hmmpanther:PTHR24329:SF251,hmmpanther:PTHR24329	.	.	ENSP00000261980	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261980	Transcript	.	.	ENSG00000119614	1975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	VSX2_HUMAN	VSX2	HGNC	.	.	UPI0000128755	SNV	VSX2,missense_variant,p.Leu280Pro,ENST00000261980,;	929	381	366	SUCCESS
SYNE3	161176	.	GRCh37	14	95932451	95932451	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	66	0	ENST00000334258.5:c.444G>A	p.Glu148=	p.E148=	ENST00000334258	NM_152592.3	148	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS9935.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCTCCTT	NONE	.	.	Superfamily_domains:SSF46966,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	.	.	ENSP00000334308	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000334258	Transcript	.	.	ENSG00000176438	19861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,synonymous_variant,p.%3D,ENST00000334258,;SYNE3,synonymous_variant,p.%3D,ENST00000557275,;SYNE3,synonymous_variant,p.%3D,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	459	66	50	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40313196	40313196	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	62	171	0	ENST00000263791.5:c.4270A>G	p.Ile1424Val	p.I1424V	ENST00000263791	NM_001013703.2	1424	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS42016.1	4270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCATCACA	NONE	.	.	hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,Pfam_domain:PF12745,Gene3D:3.40.50.800,PIRSF_domain:PIRSF000660	.	.	ENSP00000263791	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.29)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Ile1202Val,ENST00000560855,;EIF2AK4,missense_variant,p.Ile1396Val,ENST00000382727,;EIF2AK4,missense_variant,p.Ile1424Val,ENST00000263791,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558743,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558557,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558629,;EIF2AK4,upstream_gene_variant,,ENST00000559032,;	4313	171	153	SUCCESS
RFX7	64864	.	GRCh37	15	56385746	56385746	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	91	0	ENST00000559447.2:c.3889A>G	p.Ile1297Val	p.I1297V	ENST00000559447		1297	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	.	4180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATGCTGC	NONE	.	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Ile1394Val,ENST00000423270,;RFX7,missense_variant,p.Ile1297Val,ENST00000559447,;RFX7,intron_variant,,ENST00000317318,;RFX7,intron_variant,,ENST00000422057,;RFX7,intron_variant,,ENST00000559847,;	4180	91	66	SUCCESS
HERC1	8925	.	GRCh37	15	63908787	63908787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	60	0	ENST00000443617.2:c.13783C>A	p.Pro4595Thr	p.P4595T	ENST00000443617	NM_003922.3	4595	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45277.1	13783	MUTECT|MUSE	.	CAGAGGCTTCT	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000390158	.	75/78	.	.	.	.	.	.	.	.	.	75/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Pro4595Thr,ENST00000443617,;HERC1,non_coding_transcript_exon_variant,,ENST00000559996,;	13871	60	41	SUCCESS
MIR1272	100302184	.	GRCh37	15	65054600	65054600	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	65	0	ENST00000408106.1:n.115T>C		p.*39*	ENST00000408106				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32271.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCACAGAG	NONE	.	.	.	.	.	ENSP00000300069	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300069	Transcript	.	.	ENSG00000166831	19098	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBPS2_HUMAN	RBPMS2	HGNC	A2RRG0_HUMAN	.	UPI00001AECD1	SNV	RBPMS2,intron_variant,,ENST00000300069,;RBPMS2,upstream_gene_variant,,ENST00000560606,;MIR1272,non_coding_transcript_exon_variant,,ENST00000408106,;	.	65	51	SUCCESS
PRSS36	146547	.	GRCh37	16	31153852	31153852	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	15	27	0	ENST00000268281.4:c.1471C>A	p.His491Asn	p.H491N	ENST00000268281	NM_173502.4	491	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS32436.1	1471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTGCGGCG	NONE	.	.	Superfamily_domains:SSF50494,PIRSF_domain:PIRSF037933,SMART_domains:SM00020,Gene3D:2.40.10.10,hmmpanther:PTHR24276:SF4,hmmpanther:PTHR24276,PROSITE_profiles:PS50240	.	.	ENSP00000268281	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000268281	Transcript	.	.	ENSG00000178226	26906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.32)	.	POLS2_HUMAN	PRSS36	HGNC	B4DNP1_HUMAN	.	UPI00001FFF6A	SNV	PRSS36,missense_variant,p.His491Asn,ENST00000268281,;PRSS36,missense_variant,p.His491Asn,ENST00000569305,;PRSS36,missense_variant,p.His491Asn,ENST00000418068,;PRSS36,non_coding_transcript_exon_variant,,ENST00000563693,;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,upstream_gene_variant,,ENST00000571878,;	1530	27	23	SUCCESS
AXIN1	8312	.	GRCh37	16	347861	347861	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	29	55	1	ENST00000262320.3:c.1645C>T	p.Gln549Ter	p.Q549*	ENST00000262320	NM_003502.3	549	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS10405.1	1645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGCTCCT	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Gln549Ter,ENST00000262320,;AXIN1,stop_gained,p.Gln549Ter,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	2017	56	44	SUCCESS
SPIRE2	84501	.	GRCh37	16	89922083	89922083	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777237458	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	29	120	1	ENST00000378247.3:c.967C>G	p.Pro323Ala	p.P323A	ENST00000378247	NM_032451.1	323	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS32516.1	967	RADIA|MUTECT|VARSCANS	.	GGCCTCCACTG	NONE	byFrequency	.	hmmpanther:PTHR21345:SF5,hmmpanther:PTHR21345	.	.	ENSP00000367494	.	6/15	.	.	.	.	.	.	.	.	rs777237458	6/15	PASS	ENST00000378247	Transcript	.	.	ENSG00000204991	30623	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPIR2_HUMAN	SPIRE2	HGNC	B3KT42_HUMAN	.	UPI00001C1FA8	SNV	SPIRE2,missense_variant,p.Pro323Ala,ENST00000378247,;SPIRE2,missense_variant,p.Pro323Ala,ENST00000393062,;SPIRE2,3_prime_UTR_variant,,ENST00000566337,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000569108,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000561883,;	1010	121	44	SUCCESS
CRK	1398	.	GRCh37	17	1359301	1359301	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	79	0	ENST00000300574.2:c.111G>A	p.Val37=	p.V37=	ENST00000300574	NM_016823.3	37	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11002.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCACCAG	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR19969:SF8,hmmpanther:PTHR19969,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000300574	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000300574	Transcript	.	.	ENSG00000167193	2362	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRK_HUMAN	CRK	HGNC	L7RT18_HUMAN	.	UPI0000071225	SNV	CRK,synonymous_variant,p.%3D,ENST00000574295,;CRK,synonymous_variant,p.%3D,ENST00000398970,;CRK,synonymous_variant,p.%3D,ENST00000300574,;CRK,intron_variant,,ENST00000572145,;	252	79	46	SUCCESS
WDR81	124997	.	GRCh37	17	1630159	1630159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	66	0	ENST00000409644.1:c.1906C>T	p.Pro636Ser	p.P636S	ENST00000409644	NM_001163809.1	636	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS54062.1	1906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCCAGTT	NONE	.	.	.	.	.	ENSP00000386609	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000409644	Transcript	.	.	ENSG00000167716	26600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.62)	.	WDR81_HUMAN	WDR81	HGNC	E9PDG3_HUMAN,C9JD20_HUMAN	.	UPI0001881A85	SNV	WDR81,missense_variant,p.Pro636Ser,ENST00000409644,;WDR81,intron_variant,,ENST00000468539,;WDR81,intron_variant,,ENST00000419248,;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000309182,;WDR81,intron_variant,,ENST00000437219,;WDR81,intron_variant,,ENST00000418841,;WDR81,upstream_gene_variant,,ENST00000575206,;WDR81,upstream_gene_variant,,ENST00000545662,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000495411,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000474958,;	1906	66	69	SUCCESS
KRT34	3885	.	GRCh37	17	39538463	39538463	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs757990104	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	35	153	0	ENST00000394001.1:c.162C>G	p.Cys54Trp	p.C54W	ENST00000394001	NM_021013.3	54	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS11390.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCGGCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF165,hmmpanther:PTHR23239	.	.	ENSP00000377570	.	1/7	.	.	.	.	.	.	.	.	rs757990104	1/7	PASS	ENST00000394001	Transcript	.	.	ENSG00000131737	6452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	tolerated(0.05)	.	KRT34_HUMAN	KRT34	HGNC	.	.	UPI000013CD0C	SNV	KRT34,missense_variant,p.Cys54Trp,ENST00000394001,;	193	153	119	SUCCESS
ITGA2B	3674	.	GRCh37	17	42463044	42463044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	61	0	ENST00000262407.5:c.449C>A	p.Thr150Asn	p.T150N	ENST00000262407	NM_000419.3	150	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS32665.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGTCTTT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000262407	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000262407	Transcript	.	.	ENSG00000005961	6138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.55)	.	ITA2B_HUMAN	ITGA2B	HGNC	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN	.	UPI00001868B8	SNV	ITGA2B,missense_variant,p.Thr150Asn,ENST00000262407,;ITGA2B,missense_variant,p.Thr150Asn,ENST00000353281,;ITGA2B,upstream_gene_variant,,ENST00000377068,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592944,;ITGA2B,upstream_gene_variant,,ENST00000592253,;ITGA2B,upstream_gene_variant,,ENST00000591990,;ITGA2B,upstream_gene_variant,,ENST00000592462,;ITGA2B,upstream_gene_variant,,ENST00000592075,;ITGA2B,upstream_gene_variant,,ENST00000589645,;ITGA2B,upstream_gene_variant,,ENST00000592226,;	481	61	34	SUCCESS
NLRP1	22861	.	GRCh37	17	5463296	5463296	+	synonymous_variant	Silent	SNP	C	C	T	rs369131551	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	89	0	ENST00000572272.1:c.720G>A	p.Thr240=	p.T240=	ENST00000572272		240	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42246.1	720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCGTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13	.	.	ENSP00000460475	.	4/17	.	.	.	.	.	.	.	.	rs369131551	4/17	PASS	ENST00000572272	Transcript	.	.	ENSG00000091592	14374	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP1_HUMAN	NLRP1	HGNC	I3L2G5_HUMAN,I3L0S2_HUMAN	.	UPI0000038309	SNV	NLRP1,synonymous_variant,p.%3D,ENST00000572272,;NLRP1,synonymous_variant,p.%3D,ENST00000345221,;NLRP1,synonymous_variant,p.%3D,ENST00000269280,;NLRP1,synonymous_variant,p.%3D,ENST00000354411,;NLRP1,synonymous_variant,p.%3D,ENST00000577119,;NLRP1,synonymous_variant,p.%3D,ENST00000262467,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,synonymous_variant,p.%3D,ENST00000544378,;NLRP1,synonymous_variant,p.%3D,ENST00000571451,;	720	89	78	SUCCESS
PSMD12	5718	.	GRCh37	17	65343236	65343236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	68	0	ENST00000356126.3:c.791A>T	p.Gln264Leu	p.Q264L	ENST00000356126	NM_002816.3	264	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11669.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTGCCAT	NONE	.	.	hmmpanther:PTHR10855:SF1,hmmpanther:PTHR10855	.	.	ENSP00000348442	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000356126	Transcript	.	.	ENSG00000197170	9557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.12)	.	PSD12_HUMAN	PSMD12	HGNC	.	.	UPI0000132792	SNV	PSMD12,missense_variant,p.Gln244Leu,ENST00000357146,;PSMD12,missense_variant,p.Gln264Leu,ENST00000356126,;PSMD12,downstream_gene_variant,,ENST00000581618,;PSMD12,3_prime_UTR_variant,,ENST00000584008,;PSMD12,non_coding_transcript_exon_variant,,ENST00000584289,;PSMD12,upstream_gene_variant,,ENST00000577724,;PSMD12,downstream_gene_variant,,ENST00000579365,;	899	68	44	SUCCESS
RPH3AL	9501	.	GRCh37	17	65485	65485	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370194292	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	52	160	1	ENST00000331302.7:c.836C>T	p.Pro279Leu	p.P279L	ENST00000331302	NM_006987.3	279	cCg/cTg	0	A:0.0005	A:0	.	A:0.0014	.	A	P/L	protein_coding	YES	CCDS10994.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGGTCA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10024:SF188,hmmpanther:PTHR10024	A:0	A:0	ENSP00000328977	A:0	9/10	.	.	.	.	.	.	.	.	rs370194292	9/10	PASS	ENST00000331302	Transcript	.	A:0.0002	ENSG00000181031	10296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	A:0	deleterious(0.04)	.	RPH3L_HUMAN	RPH3AL	HGNC	I3NI49_HUMAN,I3L3M9_HUMAN,I3L349_HUMAN,I3L308_HUMAN,I3L2X0_HUMAN,I3L2W0_HUMAN,I3L2N0_HUMAN,I3L1Q0_HUMAN,I3L181_HUMAN	.	UPI000006FBCB	SNV	RPH3AL,missense_variant,p.Pro250Leu,ENST00000536489,;RPH3AL,missense_variant,p.Pro250Leu,ENST00000323434,;RPH3AL,missense_variant,p.Pro279Leu,ENST00000331302,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000576001,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000570893,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000572075,;RPH3AL,downstream_gene_variant,,ENST00000570954,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000572965,;	1144	161	124	SUCCESS
LGALS3BP	3959	.	GRCh37	17	76968132	76968132	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	64	0	ENST00000262776.3:c.1284A>C	p.Ser428=	p.S428=	ENST00000262776	NM_005567.3	428	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11759.1	1284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGTGACTT	NONE	.	.	.	.	.	ENSP00000262776	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262776	Transcript	.	.	ENSG00000108679	6564	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LG3BP_HUMAN	LGALS3BP	HGNC	K7ESM3_HUMAN,K7ES75_HUMAN,K7EP36_HUMAN,K7EKQ5_HUMAN,B4DVE1_HUMAN	.	UPI000006E64A	SNV	LGALS3BP,synonymous_variant,p.%3D,ENST00000262776,;LGALS3BP,3_prime_UTR_variant,,ENST00000591778,;LGALS3BP,downstream_gene_variant,,ENST00000589906,;LGALS3BP,downstream_gene_variant,,ENST00000585407,;LGALS3BP,downstream_gene_variant,,ENST00000589775,;LGALS3BP,downstream_gene_variant,,ENST00000591274,;LGALS3BP,downstream_gene_variant,,ENST00000589527,;LGALS3BP,3_prime_UTR_variant,,ENST00000587311,;LGALS3BP,3_prime_UTR_variant,,ENST00000587251,;LGALS3BP,3_prime_UTR_variant,,ENST00000586720,;LGALS3BP,downstream_gene_variant,,ENST00000588205,;LGALS3BP,downstream_gene_variant,,ENST00000586300,;LGALS3BP,downstream_gene_variant,,ENST00000588899,;LGALS3BP,downstream_gene_variant,,ENST00000588508,;LGALS3BP,downstream_gene_variant,,ENST00000592255,;LGALS3BP,downstream_gene_variant,,ENST00000588198,;LGALS3BP,downstream_gene_variant,,ENST00000587310,;LGALS3BP,downstream_gene_variant,,ENST00000588990,;LGALS3BP,downstream_gene_variant,,ENST00000588587,;	1593	65	46	SUCCESS
SMCHD1	23347	.	GRCh37	18	2697978	2697978	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	82	0	ENST00000320876.6:c.1281C>T	p.Ile427=	p.I427=	ENST00000320876	NM_015295.2	427	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS45822.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATCCGTTA	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	10/48	.	.	.	.	.	.	.	.	COSM178417,COSM178416	10/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,synonymous_variant,p.%3D,ENST00000320876,;SMCHD1,synonymous_variant,p.%3D,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,upstream_gene_variant,,ENST00000585229,;SMCHD1,downstream_gene_variant,,ENST00000581226,;SMCHD1,upstream_gene_variant,,ENST00000577880,;	1619	82	66	SUCCESS
TCF4	6925	.	GRCh37	18	52927189	52927189	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	35	131	0	ENST00000356073.4:c.1060T>C	p.Ser354Pro	p.S354P	ENST00000356073	NM_003199.2	354	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS58631.1	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGATGGAG	NONE	.	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10	.	.	ENSP00000381382	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000398339	Transcript	.	.	ENSG00000196628	11634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(1)	.	.	TCF4	HGNC	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN,E9PH57_HUMAN	.	UPI000059D58C	SNV	TCF4,missense_variant,p.Ser224Pro,ENST00000570177,;TCF4,missense_variant,p.Ser329Pro,ENST00000568740,;TCF4,missense_variant,p.Ser354Pro,ENST00000565018,;TCF4,missense_variant,p.Ser294Pro,ENST00000566279,;TCF4,missense_variant,p.Ser330Pro,ENST00000568673,;TCF4,missense_variant,p.Ser330Pro,ENST00000537578,;TCF4,missense_variant,p.Ser283Pro,ENST00000544241,;TCF4,missense_variant,p.Ser456Pro,ENST00000398339,;TCF4,missense_variant,p.Ser360Pro,ENST00000564403,;TCF4,missense_variant,p.Ser194Pro,ENST00000570287,;TCF4,missense_variant,p.Ser312Pro,ENST00000543082,;TCF4,missense_variant,p.Ser352Pro,ENST00000566286,;TCF4,missense_variant,p.Ser294Pro,ENST00000567880,;TCF4,missense_variant,p.Ser283Pro,ENST00000564228,;TCF4,missense_variant,p.Ser224Pro,ENST00000537856,;TCF4,missense_variant,p.Ser354Pro,ENST00000354452,;TCF4,missense_variant,p.Ser330Pro,ENST00000540999,;TCF4,missense_variant,p.Ser194Pro,ENST00000561831,;TCF4,missense_variant,p.Ser109Pro,ENST00000570146,;TCF4,missense_variant,p.Ser354Pro,ENST00000564999,;TCF4,missense_variant,p.Ser194Pro,ENST00000457482,;TCF4,missense_variant,p.Ser354Pro,ENST00000356073,;TCF4,missense_variant,p.Ser224Pro,ENST00000561992,;TCF4,intron_variant,,ENST00000563760,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;TCF4,downstream_gene_variant,,ENST00000563686,;	1423	131	99	SUCCESS
DSEL	92126	.	GRCh37	18	65178398	65178398	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs535957295	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	153	0	ENST00000310045.7:c.3478T>C	p.Ser1160Pro	p.S1160P	ENST00000310045	NM_032160.2	1160	Tct/Cct	0	.	G:0	.	G:0	.	G	S/P	protein_coding	YES	CCDS11995.1	3478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGACAAAG	BUFFER|p.P1158S|c.3472C>T|3	by1000G	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	G:0	.	ENSP00000310565	G:0	2/2	.	.	.	.	.	.	.	.	rs535957295	2/2	PASS	ENST00000310045	Transcript	.	G:0.0002	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	G:0.001	tolerated(0.29)	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Ser1160Pro,ENST00000310045,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000581951,;	4952	153	100	SUCCESS
SCAMP4	113178	.	GRCh37	19	1923053	1923071	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTCTTGTCCCTTGCAGCGG	CTCTTGTCCCTTGCAGCGG	-	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	CTCTTGTCCCTTGCAGCGG	CTCTTGTCCCTTGCAGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	31	0	ENST00000316097.8:c.396-14_400del		p.X132_splice	ENST00000316097	NM_079834.2	132		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45903.1	?-398	INDELOCATOR|VARSCANI	.	CGCACTCTCTTGTCCCTTGCAGCGGCTGGC	NONE	.	.	.	.	.	ENSP00000316007	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000316097	Transcript	.	.	ENSG00000227500	30385	2	.	HIGH	5/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCAM4_HUMAN	SCAMP4	HGNC	K7EJJ4_HUMAN,C9JWM2_HUMAN	.	UPI000006F786	deletion	SCAMP4,splice_acceptor_variant,,ENST00000409472,;SCAMP4,splice_acceptor_variant,,ENST00000316097,;SCAMP4,downstream_gene_variant,,ENST00000411971,;SCAMP4,splice_acceptor_variant,,ENST00000414057,;SCAMP4,downstream_gene_variant,,ENST00000588907,;SCAMP4,downstream_gene_variant,,ENST00000460767,;SCAMP4,downstream_gene_variant,,ENST00000585335,;SCAMP4,downstream_gene_variant,,ENST00000489554,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000472442,;SCAMP4,downstream_gene_variant,,ENST00000452128,;AC012615.1,upstream_gene_variant,,ENST00000367461,;	?-665	31	17	SUCCESS
ZNF536	9745	.	GRCh37	19	30935118	30935118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	33	0	ENST00000355537.3:c.649C>A	p.Leu217Met	p.L217M	ENST00000355537	NM_014717.1	217	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS32984.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCTGCTG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Leu217Met,ENST00000585628,;ZNF536,missense_variant,p.Leu217Met,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	796	33	24	SUCCESS
ZNF536	9745	.	GRCh37	19	30936398	30936398	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	142	0	ENST00000355537.3:c.1929C>G	p.Tyr643Ter	p.Y643*	ENST00000355537	NM_014717.1	643	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS32984.1	1929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACCACCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,stop_gained,p.Tyr643Ter,ENST00000585628,;ZNF536,stop_gained,p.Tyr643Ter,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	2076	142	105	SUCCESS
TICAM1	148022	.	GRCh37	19	4816573	4816573	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377447415	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	48	0	ENST00000248244.5:c.1817G>A	p.Arg606Gln	p.R606Q	ENST00000248244	NM_182919.3	606	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12136.1	1817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTCGAGCC	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF037744	.	.	ENSP00000248244	.	2/2	.	.	.	.	.	.	.	.	rs377447415	2/2	PASS	ENST00000248244	Transcript	1	.	ENSG00000127666	18348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TCAM1_HUMAN	TICAM1	HGNC	.	.	UPI000000D72E	SNV	TICAM1,missense_variant,p.Arg606Gln,ENST00000248244,;	2047	48	54	SUCCESS
SPHK2	56848	.	GRCh37	19	49132057	49132057	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	71	0	ENST00000245222.4:c.992C>T	p.Ser331Phe	p.S331F	ENST00000245222	NM_001204158.2	331	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS12727.1	992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCCTTCC	NONE	.	.	Superfamily_domains:SSF111331,hmmpanther:PTHR12358:SF12,hmmpanther:PTHR12358	.	.	ENSP00000245222	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000245222	Transcript	.	.	ENSG00000063176	18859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	deleterious(0)	.	SPHK2_HUMAN	SPHK2	HGNC	Q8N2M3_HUMAN,M0R0E9_HUMAN,M0QZP3_HUMAN,M0QXX5_HUMAN	.	UPI0000135E14	SNV	SPHK2,missense_variant,p.Ser295Phe,ENST00000599748,;SPHK2,missense_variant,p.Ser331Phe,ENST00000245222,;SPHK2,missense_variant,p.Ser331Phe,ENST00000598088,;SPHK2,missense_variant,p.Ser272Phe,ENST00000600537,;SPHK2,missense_variant,p.Ser393Phe,ENST00000443164,;SPHK2,missense_variant,p.Ser295Phe,ENST00000599029,;SPHK2,intron_variant,,ENST00000340932,;SPHK2,downstream_gene_variant,,ENST00000601704,;DBP,downstream_gene_variant,,ENST00000601104,;DBP,downstream_gene_variant,,ENST00000222122,;SPHK2,downstream_gene_variant,,ENST00000593308,;SPHK2,downstream_gene_variant,,ENST00000601712,;DBP,downstream_gene_variant,,ENST00000593500,;DBP,downstream_gene_variant,,ENST00000599385,;AC022154.7,upstream_gene_variant,,ENST00000594850,;AC022154.7,upstream_gene_variant,,ENST00000600303,;SPHK2,downstream_gene_variant,,ENST00000599033,;SPHK2,3_prime_UTR_variant,,ENST00000426514,;SPHK2,intron_variant,,ENST00000597434,;DBP,downstream_gene_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000598574,;	1358	71	58	SUCCESS
PPFIA3	8541	.	GRCh37	19	49638145	49638145	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754546714	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	101	0	ENST00000334186.4:c.1493G>A	p.Arg498Gln	p.R498Q	ENST00000334186	NM_003660.3	498	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12758.1	1493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGGGGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4	.	.	ENSP00000335614	.	13/30	.	.	.	.	.	.	.	.	rs754546714	13/30	PASS	ENST00000334186	Transcript	.	.	ENSG00000177380	9247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.02)	.	LIPA3_HUMAN	PPFIA3	HGNC	R4GNF1_HUMAN	.	UPI00001AE464	SNV	PPFIA3,missense_variant,p.Arg498Gln,ENST00000334186,;PPFIA3,missense_variant,p.Arg498Gln,ENST00000602351,;PPFIA3,missense_variant,p.Arg498Gln,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602716,;PPFIA3,downstream_gene_variant,,ENST00000602726,;PPFIA3,downstream_gene_variant,,ENST00000602492,;	1842	101	73	SUCCESS
ASPDH	554235	.	GRCh37	19	51017056	51017056	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	13	310	0	ENST00000389208.4:c.25G>A	p.Val9Met	p.V9M	ENST00000389208	NM_001114598.1	9	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS46153.1	25	MUTECT|MUSE	.	GCCCACCCTCC	NONE	.	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF005227,Gene3D:3.40.50.720,hmmpanther:PTHR31873:SF2,hmmpanther:PTHR31873	.	.	ENSP00000373860	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000389208	Transcript	.	.	ENSG00000204653	33856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.832)	.	deleterious(0)	.	ASPD_HUMAN	ASPDH	HGNC	M0QZ80_HUMAN	.	UPI00015B3C66	SNV	ASPDH,missense_variant,p.Val9Met,ENST00000389208,;ASPDH,intron_variant,,ENST00000601207,;ASPDH,intron_variant,,ENST00000598657,;ASPDH,intron_variant,,ENST00000376916,;LRRC4B,downstream_gene_variant,,ENST00000599957,;JOSD2,upstream_gene_variant,,ENST00000595669,;LRRC4B,downstream_gene_variant,,ENST00000389201,;JOSD2,upstream_gene_variant,,ENST00000598418,;JOSD2,upstream_gene_variant,,ENST00000391815,;JOSD2,upstream_gene_variant,,ENST00000594350,;JOSD2,upstream_gene_variant,,ENST00000601423,;ASPDH,intron_variant,,ENST00000597030,;ASPDH,intron_variant,,ENST00000593569,;ASPDH,intron_variant,,ENST00000601287,;JOSD2,upstream_gene_variant,,ENST00000595718,;ASPDH,upstream_gene_variant,,ENST00000597232,;	87	310	236	SUCCESS
ZNF578	147660	.	GRCh37	19	53013919	53013919	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	89	242	0	ENST00000421239.2:c.285T>C	p.Ser95=	p.S95=	ENST00000421239	NM_001099694.1	95	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS54310.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTTATCA	NONE	.	.	hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50805	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,synonymous_variant,p.%3D,ENST00000421239,;ZNF578,synonymous_variant,p.%3D,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	529	242	212	SUCCESS
ZNF702P	79986	.	GRCh37	19	53473839	53473839	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	64	0	ENST00000270443.4:n.655C>A		p.*219*	ENST00000270443				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTGTTTCC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000598752,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000599093,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	655	64	42	SUCCESS
YY1AP1	55249	.	GRCh37	1	155630103	155630103	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1366631618	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	62	209	1	ENST00000295566.4:c.1736G>A	p.Arg579Lys	p.R579K	ENST00000295566	NM_139118.2	579	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS55645.1	2012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTCTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9	.	.	ENSP00000357323	.	10/10	.	.	.	.	.	.	.	.	COSM1498594,COSM1498593	10/10	PASS	ENST00000368339	Transcript	.	.	ENSG00000163374	30935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.108)	.	tolerated_low_confidence(0.34)	1,1	YYAP1_HUMAN	YY1AP1	HGNC	A3KFK2_HUMAN,A3KFK1_HUMAN	.	UPI0001AE792F	SNV	YY1AP1,missense_variant,p.Arg533Lys,ENST00000355499,;YY1AP1,missense_variant,p.Arg502Lys,ENST00000311573,;YY1AP1,missense_variant,p.Arg379Lys,ENST00000535662,;YY1AP1,missense_variant,p.Arg671Lys,ENST00000368339,;YY1AP1,missense_variant,p.Arg579Lys,ENST00000295566,;YY1AP1,missense_variant,p.Arg533Lys,ENST00000347088,;YY1AP1,missense_variant,p.Arg522Lys,ENST00000361831,;YY1AP1,missense_variant,p.Arg651Lys,ENST00000368340,;YY1AP1,missense_variant,p.Arg502Lys,ENST00000407221,;YY1AP1,missense_variant,p.Arg513Lys,ENST00000404643,;YY1AP1,missense_variant,p.Arg522Lys,ENST00000359205,;YY1AP1,missense_variant,p.Arg533Lys,ENST00000368330,;MSTO1,intron_variant,,ENST00000538143,;MSTO1,intron_variant,,ENST00000452804,;YY1AP1,downstream_gene_variant,,ENST00000405763,;YY1AP1,downstream_gene_variant,,ENST00000488784,;YY1AP1,downstream_gene_variant,,ENST00000493625,;YY1AP1,downstream_gene_variant,,ENST00000477470,;YY1AP1,3_prime_UTR_variant,,ENST00000361140,;YY1AP1,3_prime_UTR_variant,,ENST00000436865,;YY1AP1,3_prime_UTR_variant,,ENST00000354691,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000442834,;MSTO2P,intron_variant,,ENST00000538914,;RP11-29H23.5,upstream_gene_variant,,ENST00000500626,;	2017	210	218	SUCCESS
MIB2	142678	.	GRCh37	1	1562694	1562694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	93	332	0	ENST00000505820.2:c.1738G>T	p.Gly580Cys	p.G580C	ENST00000505820		580	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS41224.2	1738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAGGCAGG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Gene3D:1.25.40.20,Pfam_domain:PF13857,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000426103	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,missense_variant,p.Gly566Cys,ENST00000355826,;MIB2,missense_variant,p.Gly339Cys,ENST00000514234,;MIB2,missense_variant,p.Gly429Cys,ENST00000378708,;MIB2,missense_variant,p.Gly488Cys,ENST00000360522,;MIB2,missense_variant,p.Gly479Cys,ENST00000504599,;MIB2,missense_variant,p.Gly515Cys,ENST00000518681,;MIB2,missense_variant,p.Gly576Cys,ENST00000520777,;MIB2,missense_variant,p.Gly580Cys,ENST00000505820,;MIB2,missense_variant,p.Gly400Cys,ENST00000378712,;MIB2,missense_variant,p.Gly523Cys,ENST00000357210,;MIB2,missense_variant,p.Gly487Cys,ENST00000378710,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000356026,;MIB2,downstream_gene_variant,,ENST00000510793,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,upstream_gene_variant,,ENST00000483015,;MMP23B,upstream_gene_variant,,ENST00000378675,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,missense_variant,p.Gly479Cys,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000505370,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,upstream_gene_variant,,ENST00000470373,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000514363,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,downstream_gene_variant,,ENST00000508455,;	1755	332	170	SUCCESS
PRRX1	5396	.	GRCh37	1	170633528	170633528	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748836293	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	259	100	339	1	ENST00000239461.6:c.169G>A	p.Val57Met	p.V57M	ENST00000239461	NM_022716.2	57	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1290.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACGTGGGC	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF300	.	.	ENSP00000239461	.	1/4	.	.	.	.	.	.	.	.	rs748836293	1/4	PASS	ENST00000239461	Transcript	.	.	ENSG00000116132	9142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.19)	.	PRRX1_HUMAN	PRRX1	HGNC	.	.	UPI0000131D11	SNV	PRRX1,missense_variant,p.Val57Met,ENST00000497230,;PRRX1,missense_variant,p.Val57Met,ENST00000239461,;PRRX1,missense_variant,p.Val57Met,ENST00000367760,;RP1-79C4.4,upstream_gene_variant,,ENST00000606154,;PRRX1,non_coding_transcript_exon_variant,,ENST00000553786,;	482	340	359	SUCCESS
BRINP2	57795	.	GRCh37	1	177250089	177250089	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs771351231	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	72	0	ENST00000361539.4:c.1777T>C	p.Phe593Leu	p.F593L	ENST00000361539	NM_021165.2	593	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1320.1	1777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTTTGGG	NONE	byFrequency	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	8/8	.	.	.	.	.	.	.	.	rs771351231	8/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.11)	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Phe593Leu,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	2089	72	118	SUCCESS
ANGPTL1	9068	.	GRCh37	1	178834353	178834353	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	84	138	0	ENST00000234816.2:c.559A>C	p.Asn187His	p.N187H	ENST00000234816	NM_004673.3	187	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS1327.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATTGACAA	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF25	.	.	ENSP00000234816	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000234816	Transcript	.	.	ENSG00000116194	489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	.	tolerated(0.06)	.	ANGL1_HUMAN	ANGPTL1	HGNC	.	.	UPI000004C64E	SNV	ANGPTL1,missense_variant,p.Asn187His,ENST00000234816,;ANGPTL1,missense_variant,p.Asn187His,ENST00000367629,;RALGPS2,intron_variant,,ENST00000324778,;RALGPS2,intron_variant,,ENST00000367635,;RALGPS2,intron_variant,,ENST00000367634,;ANGPTL1,downstream_gene_variant,,ENST00000444255,;RALGPS2,intron_variant,,ENST00000495034,;	1007	138	158	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186880516	186880516	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374028240	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	94	0	ENST00000367466.3:c.553C>T	p.Arg185Cys	p.R185C	ENST00000367466	NM_024420.2	185	Cgt/Tgt	0	T:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS1372.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGTGAT	NONE	byCluster	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	T:0	ENSP00000356436	.	7/18	.	.	.	.	.	.	.	.	rs374028240	7/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious(0.02)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Arg185Cys,ENST00000367466,;PLA2G4A,intron_variant,,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	705	94	86	SUCCESS
IARS2	55699	.	GRCh37	1	220273891	220273891	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	166	330	0	ENST00000366922.1:c.234G>T	p.Val78=	p.V78=	ENST00000366922		78	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1523.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTGCCCGG	NONE	.	.	HAMAP:MF_02002,hmmpanther:PTHR11946:SF9,hmmpanther:PTHR11946,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00392,Pfam_domain:PF00133,Superfamily_domains:SSF52374	.	.	ENSP00000303279	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000302637	Transcript	.	.	ENSG00000067704	29685	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYIM_HUMAN	IARS2	HGNC	F6SBX2_HUMAN	.	UPI000035B256	SNV	IARS2,synonymous_variant,p.%3D,ENST00000366922,;IARS2,synonymous_variant,p.%3D,ENST00000302637,;	554	330	316	SUCCESS
FMN2	56776	.	GRCh37	1	240370098	240370098	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	166	244	0	ENST00000319653.9:c.1987-1G>A		p.X663_splice	ENST00000319653	NM_020066.4	663		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31069.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGGAAGT	BUFFER|p.E806K|c.2416G>A|4	.	.	.	.	.	ENSP00000318884	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	HIGH	4/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,splice_acceptor_variant,,ENST00000319653,;FMN2,splice_acceptor_variant,,ENST00000447095,;	.	244	299	SUCCESS
CHML	1122	.	GRCh37	1	241797784	241797784	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753456268	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	60	0	ENST00000366553.1:c.1285A>G	p.Ile429Val	p.I429V	ENST00000366553	NM_001821.3	429	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31073.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATTCTTT	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,Gene3D:3.50.50.60,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000355511	.	1/1	.	.	.	.	.	.	.	.	rs753456268	1/1	PASS	ENST00000366553	Transcript	.	.	ENSG00000203668	1941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.61)	.	tolerated(0.06)	.	RAE2_HUMAN	CHML	HGNC	.	.	UPI0000073C74	SNV	CHML,missense_variant,p.Ile429Val,ENST00000366553,;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000366554,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;	1449	60	76	SUCCESS
ARID1A	8289	.	GRCh37	1	27097800	27097809	+	frameshift_variant	Frame_Shift_Del	DEL	TCCAGCCTCC	TCCAGCCTCC	-	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	TCCAGCCTCC	TCCAGCCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	14	26	133	0	ENST00000324856.7:c.3389_3398del	p.Ile1130ThrfsTer28	p.I1130Tfs*28	ENST00000324856	NM_006015.4	1130	aTCCAGCCTCCc/ac	0	.	.	.	.	.	-	IQPP/X	protein_coding	YES	CCDS285.1	3389-3398	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAGATCCAGCCTCCCTCTC	CODON|p.Q1131*|c.3391C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Ile1130ThrfsTer28,ENST00000457599,;ARID1A,frameshift_variant,p.Ile1130ThrfsTer28,ENST00000324856,;ARID1A,frameshift_variant,p.Ile747ThrfsTer28,ENST00000374152,;ARID1A,frameshift_variant,p.Ile28ThrfsTer28,ENST00000430799,;ARID1A,upstream_gene_variant,,ENST00000540690,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,downstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000532781,;	3760-3769	133	40	SUCCESS
GPN2	54707	.	GRCh37	1	27216517	27216517	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768110644	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	55	0	ENST00000374135.4:c.71C>T	p.Thr24Met	p.T24M	ENST00000374135	NM_018066.3	24	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS289.1	71	MUTECT|MUSE	.	AGTACGTGGTC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF03029,hmmpanther:PTHR21231:SF3,hmmpanther:PTHR21231	.	.	ENSP00000363250	.	1/5	.	.	.	.	.	.	.	.	rs768110644	1/5	PASS	ENST00000374135	Transcript	.	.	ENSG00000142751	25513	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GPN2_HUMAN	GPN2	HGNC	.	.	UPI0000071F43	SNV	GPN2,missense_variant,p.Thr24Met,ENST00000431781,;GPN2,missense_variant,p.Thr24Met,ENST00000374135,;GPATCH3,downstream_gene_variant,,ENST00000361720,;GPATCH3,downstream_gene_variant,,ENST00000450844,;GPATCH3,downstream_gene_variant,,ENST00000445019,;GPN2,upstream_gene_variant,,ENST00000374133,;GPN2,upstream_gene_variant,,ENST00000461282,;GPN2,upstream_gene_variant,,ENST00000477418,;	272	55	35	SUCCESS
RLF	6018	.	GRCh37	1	40661311	40661311	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs184373456	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	108	0	ENST00000372771.4:c.482A>G	p.His161Arg	p.H161R	ENST00000372771	NM_012421.3	161	cAt/cGt	0	.	G:0	.	G:0	.	G	H/R	protein_coding	YES	CCDS448.1	482	MUTECT|MUSE	.	GTCACATGATG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507	G:0.003	.	ENSP00000361857	G:0	4/8	.	.	.	.	.	.	.	.	rs184373456	4/8	PASS	ENST00000372771	Transcript	.	G:0.0006	ENSG00000117000	10025	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	G:0	deleterious(0)	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,missense_variant,p.His161Arg,ENST00000372771,;	509	108	49	SUCCESS
ZNF644	84146	.	GRCh37	1	91382375	91382375	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	57	159	0	ENST00000337393.5:c.3964A>T	p.Met1322Leu	p.M1322L	ENST00000337393	NM_201269.2	1322	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS731.1	3964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCATTAGTA	NONE	.	.	.	.	.	ENSP00000359469	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0.04)	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,missense_variant,p.Met100Leu,ENST00000347275,;ZNF644,missense_variant,p.Met1322Leu,ENST00000370440,;ZNF644,missense_variant,p.Met1322Leu,ENST00000337393,;ZNF644,missense_variant,p.Met100Leu,ENST00000361321,;ZNF644,non_coding_transcript_exon_variant,,ENST00000482709,;ZNF644,non_coding_transcript_exon_variant,,ENST00000479798,;ZNF644,non_coding_transcript_exon_variant,,ENST00000467231,;	4182	159	132	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94685889	94685889	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766258754	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	86	0	ENST00000260526.6:c.265A>G	p.Ile89Val	p.I89V	ENST00000260526	NM_004815.3	89	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS748.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATAGACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15228:SF7,hmmpanther:PTHR15228	.	.	ENSP00000260526	.	3/23	.	.	.	.	.	.	.	.	rs766258754	3/23	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,missense_variant,p.Ile89Val,ENST00000260526,;ARHGAP29,missense_variant,p.Ile89Val,ENST00000370217,;ARHGAP29,missense_variant,p.Ile89Val,ENST00000552844,;	448	86	52	SUCCESS
C20orf202	400831	.	GRCh37	20	1184179	1184179	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773168827	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	63	178	0	ENST00000400633.1:c.19C>T	p.Pro7Ser	p.P7S	ENST00000400633	NM_001009612.2	7	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46567.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCCCTCGG	NONE	.	.	hmmpanther:PTHR32289:SF5,hmmpanther:PTHR32289	.	.	ENSP00000383474	.	1/2	.	.	.	.	.	.	.	.	rs773168827	1/2	PASS	ENST00000400633	Transcript	.	.	ENSG00000215595	37254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	tolerated_low_confidence(0.12)	.	CT202_HUMAN	C20orf202	HGNC	.	.	UPI0000141828	SNV	C20orf202,missense_variant,p.Pro7Ser,ENST00000400633,;	82	178	159	SUCCESS
XRN2	22803	.	GRCh37	20	21312938	21312938	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	95	0	ENST00000377191.3:c.718G>A	p.Gly240Ser	p.G240S	ENST00000377191	NM_012255.3	240	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS13144.1	718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTGGCCTT	NONE	.	.	hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF037239	.	.	ENSP00000366396	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,missense_variant,p.Gly186Ser,ENST00000539513,;XRN2,missense_variant,p.Gly164Ser,ENST00000430571,;XRN2,missense_variant,p.Gly240Ser,ENST00000377191,;	813	95	75	SUCCESS
CRYZL1	9946	.	GRCh37	21	34967612	34967612	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	19	0	ENST00000381554.3:c.904+425A>C		p.*302*	ENST00000381554	NM_145858.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13633.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATTCTGA	NONE	.	.	.	.	.	ENSP00000370966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381554	Transcript	.	.	ENSG00000205758	2420	.	.	MODIFIER	11/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QORL1_HUMAN	CRYZL1	HGNC	C9K0F7_HUMAN,C9JQD0_HUMAN,C9JAL0_HUMAN	.	UPI0000038C61	SNV	CRYZL1,3_prime_UTR_variant,,ENST00000361534,;CRYZL1,3_prime_UTR_variant,,ENST00000440526,;CRYZL1,intron_variant,,ENST00000445393,;CRYZL1,intron_variant,,ENST00000441940,;AP000304.12,intron_variant,,ENST00000429238,;CRYZL1,intron_variant,,ENST00000381554,;CRYZL1,intron_variant,,ENST00000381540,;CRYZL1,intron_variant,,ENST00000290244,;CRYZL1,downstream_gene_variant,,ENST00000426935,;CRYZL1,downstream_gene_variant,,ENST00000414079,;CRYZL1,intron_variant,,ENST00000480893,;CRYZL1,downstream_gene_variant,,ENST00000479964,;CRYZL1,3_prime_UTR_variant,,ENST00000420072,;CRYZL1,3_prime_UTR_variant,,ENST00000429827,;CRYZL1,intron_variant,,ENST00000437996,;CRYZL1,intron_variant,,ENST00000452420,;CRYZL1,upstream_gene_variant,,ENST00000468349,;	.	19	18	SUCCESS
PIWIL3	440822	.	GRCh37	22	25145785	25145785	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	82	0	ENST00000332271.5:c.1091A>C	p.Gln364Pro	p.Q364P	ENST00000332271	NM_001255975.1	364	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS33623.1	1091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTTGCTGC	NONE	.	.	PROSITE_profiles:PS50821,hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Pfam_domain:PF02170,Gene3D:2.170.260.10,SMART_domains:SM00949,Superfamily_domains:SSF101690	.	.	ENSP00000330031	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000332271	Transcript	.	.	ENSG00000184571	18443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	PIWL3_HUMAN	PIWIL3	HGNC	.	.	UPI00002073D6	SNV	PIWIL3,missense_variant,p.Gln364Pro,ENST00000332271,;PIWIL3,missense_variant,p.Gln255Pro,ENST00000527701,;PIWIL3,missense_variant,p.Gln255Pro,ENST00000533313,;PIWIL3,splice_region_variant,,ENST00000532537,;	1508	82	75	SUCCESS
POLR2F	5435	.	GRCh37	22	38421598	38421598	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	70	0	ENST00000405557.1:c.306G>A	p.Gly102=	p.G102=	ENST00000405557		102	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	.	.	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGCTGGA	NONE	.	.	PIRSF_domain:PIRSF000778	.	.	ENSP00000384112	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000405557	Transcript	.	.	ENSG00000100142	9193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	POLR2F	HGNC	U3KQS8_HUMAN,B0QYL8_HUMAN	.	UPI0000E06F0B	SNV	POLR2F,synonymous_variant,p.%3D,ENST00000405557,;POLR2F,intron_variant,,ENST00000407936,;POLR2F,intron_variant,,ENST00000333418,;POLR2F,intron_variant,,ENST00000427034,;	383	70	67	SUCCESS
APOBEC3H	164668	.	GRCh37	22	39497462	39497462	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374311513	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	78	0	ENST00000401756.1:c.371G>A	p.Arg124Gln	p.R124Q	ENST00000401756	NM_001166003.1	124	cGg/cAg	0	A:0.0005	A:0.0008	.	A:0	.	A	R/Q	protein_coding	YES	CCDS54530.1	371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGGCTTC	BUFFER|p.K121E|c.361A>G|4,BUFFER|p.K121N|c.363G>C|4	byCluster|by1000G	.	Superfamily_domains:SSF53927,Pfam_domain:PF08210,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF25	A:0	A:0	ENSP00000385741	A:0	3/6	.	.	.	.	.	.	.	.	rs374311513	3/6	PASS	ENST00000401756	Transcript	.	A:0.0002	ENSG00000100298	24100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	A:0	tolerated(0.63)	.	ABC3H_HUMAN	APOBEC3H	HGNC	.	.	UPI00002077A2	SNV	APOBEC3H,missense_variant,p.Arg124Gln,ENST00000421988,;APOBEC3H,missense_variant,p.Arg124Gln,ENST00000348946,;APOBEC3H,missense_variant,p.Arg124Gln,ENST00000401756,;APOBEC3H,missense_variant,p.Arg124Gln,ENST00000442487,;APOBEC3H,downstream_gene_variant,,ENST00000474235,;	447	78	54	SUCCESS
NBAS	51594	.	GRCh37	2	15319165	15319165	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs746756510	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	139	416	1	ENST00000281513.5:c.6787C>T	p.Arg2263Ter	p.R2263*	ENST00000281513	NM_015909.3	2263	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1685.1	6787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCGGCTCT	NONE	byFrequency	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	51/52	.	.	.	.	.	.	.	.	rs746756510,COSM162806	51/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,stop_gained,p.Arg2143Ter,ENST00000441750,;NBAS,stop_gained,p.Arg117Ter,ENST00000423602,;NBAS,stop_gained,p.Arg2263Ter,ENST00000281513,;NBAS,stop_gained,p.Arg1311Ter,ENST00000442506,;NBAS,3_prime_UTR_variant,,ENST00000417461,;NBAS,intron_variant,,ENST00000433283,;NBAS,non_coding_transcript_exon_variant,,ENST00000485694,;	6813	417	370	SUCCESS
KCNJ3	3760	.	GRCh37	2	155711696	155711696	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	111	315	1	ENST00000295101.2:c.1377A>T	p.Leu459Phe	p.L459F	ENST00000295101	NM_002239.3	459	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2200.1	1377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTATCTGA	NONE	.	.	hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767	.	.	ENSP00000295101	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295101	Transcript	.	.	ENSG00000162989	6264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.71)	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,missense_variant,p.Leu459Phe,ENST00000295101,;KCNJ3,downstream_gene_variant,,ENST00000544049,;KCNJ3,downstream_gene_variant,,ENST00000493505,;	1854	316	277	SUCCESS
MYCN	4613	.	GRCh37	2	16082485	16082485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	452	264	939	0	ENST00000281043.3:c.299G>T	p.Gly100Val	p.G100V	ENST00000281043	NM_005378.4	100	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1687.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGGGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11514:SF3,hmmpanther:PTHR11514,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705	.	.	ENSP00000281043	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000281043	Transcript	.	.	ENSG00000134323	7559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.509)	.	deleterious(0.01)	.	MYCN_HUMAN	MYCN	HGNC	Q9UMQ5_HUMAN,Q7Z7Q9_HUMAN,Q53XS5_HUMAN	.	UPI000012FAF8	SNV	MYCN,missense_variant,p.Gly100Val,ENST00000281043,;MYCNOS,upstream_gene_variant,,ENST00000448719,;MYCNOS,upstream_gene_variant,,ENST00000439180,;MYCNOS,upstream_gene_variant,,ENST00000453400,;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000420452,;	596	939	716	SUCCESS
MAP2	4133	.	GRCh37	2	210574913	210574913	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	142	1	ENST00000360351.4:c.5008C>A	p.Leu1670Met	p.L1670M	ENST00000360351	NM_002374.3	1670	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS2384.1	5008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCTGAAG	NONE	.	.	PROSITE_profiles:PS51491,hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF00418	.	.	ENSP00000353508	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Leu1666Met,ENST00000447185,;MAP2,missense_variant,p.Leu314Met,ENST00000361559,;MAP2,missense_variant,p.Leu1670Met,ENST00000360351,;MAP2,missense_variant,p.Leu371Met,ENST00000199940,;MAP2,missense_variant,p.Leu314Met,ENST00000392194,;MAP2,downstream_gene_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000473543,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;MAP2,non_coding_transcript_exon_variant,,ENST00000471619,;MAP2,non_coding_transcript_exon_variant,,ENST00000478233,;MAP2,downstream_gene_variant,,ENST00000464007,;	5514	143	111	SUCCESS
DNER	92737	.	GRCh37	2	230456443	230456443	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	101	0	ENST00000341772.4:c.438A>C	p.Glu146Asp	p.E146D	ENST00000341772	NM_139072.3	146	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS33390.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATTCGGT	BUFFER|p.E146K|c.436G>A|3	.	.	hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58	.	.	ENSP00000345229	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated_low_confidence(0.11)	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,missense_variant,p.Glu146Asp,ENST00000341772,;DNER,upstream_gene_variant,,ENST00000482831,;	573	102	117	SUCCESS
LTBP1	4052	.	GRCh37	2	33588558	33588558	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	88	0	ENST00000404816.2:c.4372T>G	p.Tyr1458Asp	p.Y1458D	ENST00000404816		1458	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS33177.2	4372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTACTATGAT	NONE	.	.	hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000386043	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Tyr1132Asp,ENST00000407925,;LTBP1,missense_variant,p.Tyr1459Asp,ENST00000354476,;LTBP1,missense_variant,p.Tyr1090Asp,ENST00000418533,;LTBP1,missense_variant,p.Tyr1133Asp,ENST00000390003,;LTBP1,missense_variant,p.Tyr1458Asp,ENST00000404816,;LTBP1,missense_variant,p.Tyr1077Asp,ENST00000402934,;LTBP1,missense_variant,p.Tyr356Asp,ENST00000272273,;LTBP1,missense_variant,p.Tyr1079Asp,ENST00000404525,;LTBP1,downstream_gene_variant,,ENST00000422669,;	4725	88	66	SUCCESS
HK2	3099	.	GRCh37	2	75107408	75107408	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	111	0	ENST00000290573.2:c.1282C>G	p.His428Asp	p.H428D	ENST00000290573	NM_000189.4	428	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS1956.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTACATAAG	NONE	.	.	hmmpanther:PTHR19443:SF4,hmmpanther:PTHR19443,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067	.	.	ENSP00000290573	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.264)	.	tolerated(0.21)	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,missense_variant,p.His400Asp,ENST00000409174,;HK2,missense_variant,p.His428Asp,ENST00000290573,;	1882	111	88	SUCCESS
KIDINS220	57498	.	GRCh37	2	8953428	8953428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	93	263	0	ENST00000256707.3:c.344G>A	p.Gly115Asp	p.G115D	ENST00000256707	NM_020738.2	115	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS42650.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGGCCTTTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000256707	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000256707	Transcript	.	.	ENSG00000134313	29508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KDIS_HUMAN	KIDINS220	HGNC	F8WAY8_HUMAN	.	UPI0000208E08	SNV	KIDINS220,missense_variant,p.Gly115Asp,ENST00000427284,;KIDINS220,missense_variant,p.Gly115Asp,ENST00000489024,;KIDINS220,missense_variant,p.Gly73Asp,ENST00000418530,;KIDINS220,missense_variant,p.Gly115Asp,ENST00000256707,;KIDINS220,missense_variant,p.Gly115Asp,ENST00000473731,;KIDINS220,missense_variant,p.Gly115Asp,ENST00000319688,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;	526	263	243	SUCCESS
EIF2A	83939	.	GRCh37	3	150290287	150290287	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	110	0	ENST00000460851.1:c.1354A>G	p.Arg452Gly	p.R452G	ENST00000460851		452	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS46935.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAAGAAAT	NONE	.	.	hmmpanther:PTHR13227,PIRSF_domain:PIRSF017222	.	.	ENSP00000417229	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000460851	Transcript	.	.	ENSG00000144895	3254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	EIF2A_HUMAN	EIF2A	HGNC	.	.	UPI00000473DB	SNV	EIF2A,missense_variant,p.Arg452Gly,ENST00000460851,;EIF2A,missense_variant,p.Arg238Gly,ENST00000383043,;EIF2A,missense_variant,p.Arg391Gly,ENST00000406576,;EIF2A,missense_variant,p.Arg427Gly,ENST00000487799,;EIF2A,missense_variant,p.Arg226Gly,ENST00000465535,;EIF2A,missense_variant,p.Arg447Gly,ENST00000273435,;SERP1,intron_variant,,ENST00000479209,;EIF2A,downstream_gene_variant,,ENST00000482093,;EIF2A,non_coding_transcript_exon_variant,,ENST00000482471,;SERP1,intron_variant,,ENST00000484608,;SERP1,intron_variant,,ENST00000490945,;SERP1,intron_variant,,ENST00000463647,;SERP1,intron_variant,,ENST00000491195,;EIF2A,3_prime_UTR_variant,,ENST00000477551,;EIF2A,downstream_gene_variant,,ENST00000462221,;EIF2A,downstream_gene_variant,,ENST00000472926,;EIF2A,downstream_gene_variant,,ENST00000494558,;	1463	110	84	SUCCESS
RBMS3	27303	.	GRCh37	3	29804446	29804446	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	93	345	0	ENST00000383767.2:c.603T>C	p.Asn201=	p.N201=	ENST00000383767		201	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS33724.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAATGGAAA	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219,PROSITE_profiles:PS50102	.	.	ENSP00000373277	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,synonymous_variant,p.%3D,ENST00000383767,;RBMS3,synonymous_variant,p.%3D,ENST00000434693,;RBMS3,synonymous_variant,p.%3D,ENST00000273139,;RBMS3,synonymous_variant,p.%3D,ENST00000452462,;RBMS3,synonymous_variant,p.%3D,ENST00000445033,;RBMS3,synonymous_variant,p.%3D,ENST00000456853,;RBMS3,synonymous_variant,p.%3D,ENST00000383766,;RBMS3,synonymous_variant,p.%3D,ENST00000396583,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497319,;	939	345	278	SUCCESS
STT3B	201595	.	GRCh37	3	31658480	31658480	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs749865173	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	112	0	ENST00000295770.2:c.1036A>C	p.Lys346Gln	p.K346Q	ENST00000295770	NM_178862.1	346	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS2650.1	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAAAACAA	NONE	.	.	Pfam_domain:PF02516,hmmpanther:PTHR13872,hmmpanther:PTHR13872:SF1	.	.	ENSP00000295770	.	7/16	.	.	.	.	.	.	.	.	rs749865173	7/16	PASS	ENST00000295770	Transcript	.	.	ENSG00000163527	30611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.29)	.	STT3B_HUMAN	STT3B	HGNC	.	.	UPI000006D7FB	SNV	STT3B,missense_variant,p.Lys346Gln,ENST00000295770,;STT3B,non_coding_transcript_exon_variant,,ENST00000423527,;STT3B,non_coding_transcript_exon_variant,,ENST00000453168,;STT3B,non_coding_transcript_exon_variant,,ENST00000462235,;STT3B,non_coding_transcript_exon_variant,,ENST00000436236,;	1245	112	89	SUCCESS
SCN11A	11280	.	GRCh37	3	38891953	38891953	+	intron_variant	Intron	SNP	G	G	T	rs768362087	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	86	0	ENST00000302328.3:c.4327+19C>A		p.*1443*	ENST00000302328	NM_014139.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33737.1	.	MUTECT|MUSE	.	CCTCTGACTGC	NONE	.	.	.	.	.	ENSP00000307599	.	.	.	.	.	.	.	.	.	.	rs768362087	.	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	MODIFIER	25/25	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,3_prime_UTR_variant,,ENST00000444237,;SCN11A,intron_variant,,ENST00000450244,;SCN11A,intron_variant,,ENST00000302328,;SCN11A,intron_variant,,ENST00000456224,;	.	86	51	SUCCESS
ATRIP	84126	.	GRCh37	3	48501904	48501904	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	96	0	ENST00000320211.3:c.1451A>G	p.His484Arg	p.H484R	ENST00000320211	NM_130384.2	484	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2768.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCACCTGG	NONE	.	.	.	.	.	ENSP00000323099	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000320211	Transcript	.	.	ENSG00000164053	33499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ATRIP_HUMAN	ATRIP	HGNC	C9IZM8_HUMAN	.	UPI0000070A6A	SNV	ATRIP,missense_variant,p.His484Arg,ENST00000320211,;ATRIP,missense_variant,p.His484Arg,ENST00000346691,;ATRIP,missense_variant,p.His391Arg,ENST00000412052,;ATRIP,missense_variant,p.His357Arg,ENST00000357105,;TREX1,upstream_gene_variant,,ENST00000296443,;ATRIP,downstream_gene_variant,,ENST00000421175,;ATRIP,3_prime_UTR_variant,,ENST00000424906,;TREX1,upstream_gene_variant,,ENST00000395677,;ATRIP,downstream_gene_variant,,ENST00000491468,;ATRIP,downstream_gene_variant,,ENST00000454733,;	1564	96	66	SUCCESS
QRICH1	54870	.	GRCh37	3	49070130	49070130	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	91	0	ENST00000357496.2:c.1972C>T	p.Pro658Ser	p.P658S	ENST00000357496	NM_017730.2	658	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS2787.1	1972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGGTTCT	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25,Pfam_domain:PF12012	.	.	ENSP00000378830	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000395443	Transcript	.	.	ENSG00000198218	24713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.591)	.	tolerated(0.08)	.	QRIC1_HUMAN	QRICH1	HGNC	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN	.	UPI0000209C85	SNV	QRICH1,missense_variant,p.Pro658Ser,ENST00000424300,;QRICH1,missense_variant,p.Pro658Ser,ENST00000357496,;QRICH1,missense_variant,p.Pro658Ser,ENST00000395443,;IMPDH2,upstream_gene_variant,,ENST00000326739,;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;RP13-131K19.6,downstream_gene_variant,,ENST00000607245,;QRICH1,non_coding_transcript_exon_variant,,ENST00000477021,;QRICH1,downstream_gene_variant,,ENST00000479449,;QRICH1,non_coding_transcript_exon_variant,,ENST00000469910,;QRICH1,non_coding_transcript_exon_variant,,ENST00000489642,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498392,;QRICH1,downstream_gene_variant,,ENST00000498440,;IMPDH2,upstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000462980,;	2445	91	74	SUCCESS
PBRM1	55193	.	GRCh37	3	52595942	52595942	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	154	0	ENST00000394830.3:c.3973T>G	p.Ser1325Ala	p.S1325A	ENST00000394830	NM_018313.4	1325	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS43099.1	3973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGAGCCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16062,Superfamily_domains:SSF47095	.	.	ENSP00000378307	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000394830	Transcript	.	.	ENSG00000163939	30064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	tolerated(0.62)	.	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	SNV	PBRM1,missense_variant,p.Ser1325Ala,ENST00000394830,;PBRM1,missense_variant,p.Ser1377Ala,ENST00000409057,;PBRM1,missense_variant,p.Ser1376Ala,ENST00000423351,;PBRM1,missense_variant,p.Ser1352Ala,ENST00000410007,;PBRM1,missense_variant,p.Ser1345Ala,ENST00000356770,;PBRM1,missense_variant,p.Ser1377Ala,ENST00000296302,;PBRM1,missense_variant,p.Ser1392Ala,ENST00000409767,;PBRM1,missense_variant,p.Ser1377Ala,ENST00000337303,;PBRM1,missense_variant,p.Ser1392Ala,ENST00000409114,;SMIM4,intron_variant,,ENST00000476842,;RNU6ATAC16P,downstream_gene_variant,,ENST00000408591,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	4073	154	128	SUCCESS
BOD1L1	259282	.	GRCh37	4	13601769	13601769	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	124	0	ENST00000040738.5:c.6755G>T	p.Gly2252Val	p.G2252V	ENST00000040738	NM_148894.2	2252	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3411.2	6755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCCCGTCT	NONE	.	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,missense_variant,p.Gly2252Val,ENST00000040738,;	6891	124	76	SUCCESS
MGST2	4258	.	GRCh37	4	140616397	140616397	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs748417296	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	29	91	0	ENST00000265498.1:c.205A>G	p.Met69Val	p.M69V	ENST00000265498	NM_002413.4	69	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS3749.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGATGGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10250:SF13,hmmpanther:PTHR10250,Gene3D:1.20.120.550,Pfam_domain:PF01124,Superfamily_domains:SSF161084,Prints_domain:PR00488	.	.	ENSP00000265498	.	3/5	.	.	.	.	.	.	.	.	rs748417296	3/5	PASS	ENST00000265498	Transcript	.	.	ENSG00000085871	7063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.63)	.	MGST2_HUMAN	MGST2	HGNC	.	.	UPI000000128A	SNV	MGST2,missense_variant,p.Met69Val,ENST00000265498,;MGST2,intron_variant,,ENST00000506797,;MGST2,non_coding_transcript_exon_variant,,ENST00000515067,;MGST2,non_coding_transcript_exon_variant,,ENST00000515137,;MGST2,missense_variant,p.Met69Val,ENST00000503816,;H3F3AP6,downstream_gene_variant,,ENST00000230495,;	457	91	46	SUCCESS
SLC30A9	10463	.	GRCh37	4	42065032	42065032	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758618690	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	113	1	ENST00000264451.7:c.926C>A	p.Ser309Tyr	p.S309Y	ENST00000264451	NM_006345.3	309	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS3465.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCTTCGC	BUFFER|p.S310L|c.929C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13414,TIGRFAM_domain:TIGR01297,Pfam_domain:PF01545,Gene3D:3h90A01,Superfamily_domains:0054606	.	.	ENSP00000264451	.	11/18	.	.	.	.	.	.	.	.	rs758618690,COSM3603923	11/18	PASS	ENST00000264451	Transcript	.	.	ENSG00000014824	1329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	.	tolerated(0.13)	0,1	ZNT9_HUMAN	SLC30A9	HGNC	.	.	UPI000013D51C	SNV	SLC30A9,missense_variant,p.Ser309Tyr,ENST00000264451,;SLC30A9,3_prime_UTR_variant,,ENST00000513699,;SLC30A9,upstream_gene_variant,,ENST00000509683,;	1106	114	119	SUCCESS
GABRG1	2565	.	GRCh37	4	46060543	46060543	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1193002288	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	56	208	0	ENST00000295452.4:c.722T>C	p.Val241Ala	p.V241A	ENST00000295452	NM_173536.3	241	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3470.1	722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTACAAAT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000295452	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.05)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Val241Ala,ENST00000295452,;	890	208	136	SUCCESS
PDE6B	5158	.	GRCh37	4	651192	651192	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	93	328	1	ENST00000496514.1:c.1310A>T	p.Lys437Met	p.K437M	ENST00000496514		437	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS33932.1	1310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAAGATGA	NONE	.	.	Superfamily_domains:SSF55781,SMART_domains:SM00065,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	.	.	ENSP00000420295	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	deleterious(0.01)	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.Lys158Met,ENST00000429163,;PDE6B,missense_variant,p.Lys437Met,ENST00000496514,;PDE6B,missense_variant,p.Lys437Met,ENST00000255622,;PDE6B,downstream_gene_variant,,ENST00000488061,;PDE6B,downstream_gene_variant,,ENST00000487902,;PDE6B,downstream_gene_variant,,ENST00000465426,;RP11-1191J2.2,upstream_gene_variant,,ENST00000489312,;RP11-1191J2.2,upstream_gene_variant,,ENST00000599030,;RP11-1191J2.2,upstream_gene_variant,,ENST00000468356,;RP11-1191J2.5,downstream_gene_variant,,ENST00000609172,;RP11-1191J2.2,upstream_gene_variant,,ENST00000598370,;PDE6B,downstream_gene_variant,,ENST00000474251,;PDE6B,downstream_gene_variant,,ENST00000476034,;PDE6B,downstream_gene_variant,,ENST00000467152,;	1331	329	276	SUCCESS
UBA6	55236	.	GRCh37	4	68528881	68528881	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	86	290	0	ENST00000322244.5:c.1013A>C	p.Lys338Thr	p.K338T	ENST00000322244	NM_018227.5	338	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS3516.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATTTCTCC	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572	.	.	ENSP00000313454	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000322244	Transcript	.	.	ENSG00000033178	25581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.1)	.	UBA6_HUMAN	UBA6	HGNC	B3KSS1_HUMAN	.	UPI000004A4F7	SNV	UBA6,missense_variant,p.Lys338Thr,ENST00000322244,;UBA6,missense_variant,p.Lys338Thr,ENST00000420827,;UBA6,non_coding_transcript_exon_variant,,ENST00000429659,;	1073	290	149	SUCCESS
ARAP3	64411	.	GRCh37	5	141038047	141038047	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	122	0	ENST00000239440.4:c.3412-1G>A		p.X1138_splice	ENST00000239440	NM_022481.5	1138		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4266.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCTGGGG	NONE	.	.	.	.	.	ENSP00000239440	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	HIGH	24/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,splice_acceptor_variant,,ENST00000508305,;ARAP3,splice_acceptor_variant,,ENST00000239440,;ARAP3,splice_acceptor_variant,,ENST00000513878,;ARAP3,splice_acceptor_variant,,ENST00000512390,;	.	122	102	SUCCESS
FAT2	2196	.	GRCh37	5	150887158	150887158	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs538316910	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	31	0	ENST00000261800.5:c.12074C>T	p.Ala4025Val	p.A4025V	ENST00000261800	NM_001447.2	4025	gCg/gTg	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS4317.1	12074	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGCCTCC	NONE	by1000G	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Superfamily_domains:SSF57196	A:0	.	ENSP00000261800	A:0	22/23	.	.	.	.	.	.	.	.	rs538316910	22/23	PASS	ENST00000261800	Transcript	.	A:0.0002	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	A:0.001	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Ala4025Val,ENST00000261800,;FAT2,missense_variant,p.Ala798Val,ENST00000520200,;CTC-251D13.1,upstream_gene_variant,,ENST00000606930,;	12087	31	33	SUCCESS
MAPK9	5601	.	GRCh37	5	179707453	179707453	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	141	0	ENST00000452135.2:c.109C>G	p.Gln37Glu	p.Q37E	ENST00000452135		37	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS4453.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTGGGCCC	BUFFER|p.G35E|c.104G>A|3,BUFFER|p.G35E|c.104G>A|3,BUFFER|p.G35E|c.104G>A|3,BUFFER|p.G35E|c.104G>A|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF167,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000394560	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000452135	Transcript	.	.	ENSG00000050748	6886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	tolerated(0.1)	.	MK09_HUMAN	MAPK9	HGNC	E5RJ57_HUMAN	.	UPI000006E3AD	SNV	MAPK9,missense_variant,p.Gln37Glu,ENST00000539014,;MAPK9,missense_variant,p.Gln37Glu,ENST00000347470,;MAPK9,missense_variant,p.Gln37Glu,ENST00000393360,;MAPK9,missense_variant,p.Gln37Glu,ENST00000425491,;MAPK9,missense_variant,p.Gln37Glu,ENST00000523583,;MAPK9,missense_variant,p.Gln37Glu,ENST00000343111,;MAPK9,missense_variant,p.Gln37Glu,ENST00000455781,;MAPK9,missense_variant,p.Gln37Glu,ENST00000452135,;MAPK9,missense_variant,p.Gln37Glu,ENST00000397072,;MAPK9,missense_variant,p.Gln37Glu,ENST00000393362,;	408	141	107	SUCCESS
FYB	0	.	GRCh37	5	39126206	39126206	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	98	0	ENST00000540520.1:c.1969A>G	p.Thr657Ala	p.T657A	ENST00000540520	NM_001243093.1	657	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS58945.1	1969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGTATTAC	NONE	.	.	hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF10	.	.	ENSP00000442840	.	12/19	.	.	.	.	.	.	.	.	COSM1595328,COSM1068015	12/19	PASS	ENST00000540520	Transcript	.	.	ENSG00000082074	4036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.004)	.	tolerated(0.4)	1,1	FYB_HUMAN	FYB	HGNC	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	.	UPI00017A75FB	SNV	FYB,missense_variant,p.Thr647Ala,ENST00000505428,;FYB,missense_variant,p.Thr657Ala,ENST00000540520,;FYB,missense_variant,p.Thr647Ala,ENST00000512982,;FYB,intron_variant,,ENST00000515010,;FYB,intron_variant,,ENST00000351578,;	2055	98	83	SUCCESS
SEPP1	0	.	GRCh37	5	42806931	42806931	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	26	1	ENST00000506577.1:c.416+67C>G		p.*139*	ENST00000506577				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43311.1	.	SOMATICSNIPER|VARSCANS	.	GATGGGAAGTA	NONE	.	.	.	.	.	ENSP00000420939	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000514985	Transcript	.	.	ENSG00000250722	10751	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,intron_variant,,ENST00000506577,;SEPP1,intron_variant,,ENST00000510965,;SEPP1,intron_variant,,ENST00000507920,;SEPP1,intron_variant,,ENST00000511224,;SEPP1,intron_variant,,ENST00000514218,;SEPP1,intron_variant,,ENST00000514985,;CCDC152,downstream_gene_variant,,ENST00000361970,;CTD-2325A15.5,non_coding_transcript_exon_variant,,ENST00000606056,;SEPP1,intron_variant,,ENST00000513303,;SEPP1,intron_variant,,ENST00000509276,;SEPP1,downstream_gene_variant,,ENST00000515626,;SEPP1,non_coding_transcript_exon_variant,,ENST00000506078,;SEPP1,non_coding_transcript_exon_variant,,ENST00000512980,;SEPP1,non_coding_transcript_exon_variant,,ENST00000510650,;SEPP1,intron_variant,,ENST00000514403,;SEPP1,intron_variant,,ENST00000505309,;SEPP1,downstream_gene_variant,,ENST00000508937,;	.	27	27	SUCCESS
NBPF22P	285622	.	GRCh37	5	85592170	85592170	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	64	226	0	ENST00000590707.1:n.1469T>C		p.*490*	ENST00000590707				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACTAAAAC	NONE	.	.	.	.	.	.	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000590707	Transcript	.	.	ENSG00000205449	28731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NBPF22P	HGNC	.	.	.	SNV	NBPF22P,non_coding_transcript_exon_variant,,ENST00000590707,;NBPF22P,downstream_gene_variant,,ENST00000508988,;	1469	226	200	SUCCESS
TBC1D32	221322	.	GRCh37	6	121452855	121452855	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	43	0	ENST00000398212.2:c.2817T>G	p.Asp939Glu	p.D939E	ENST00000398212	NM_152730.4	939	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS43501.1	2817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTATCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.79)	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,missense_variant,p.Asp939Glu,ENST00000398212,;TBC1D32,missense_variant,p.Asp980Glu,ENST00000275159,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000523345,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,missense_variant,p.Asp24Glu,ENST00000509492,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	2867	43	21	SUCCESS
TRDN	10345	.	GRCh37	6	123658791	123658791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	174	0	ENST00000334268.4:c.1393A>G	p.Lys465Glu	p.K465E	ENST00000334268		465	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS55053.1	1393	MUTECT|MUSE	.	AGTCTTCCCAG	NONE	.	.	hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0	.	.	ENSP00000381240	.	22/41	.	.	.	.	.	.	.	.	.	22/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious_low_confidence(0)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Lys465Glu,ENST00000398178,;TRDN,missense_variant,p.Lys465Glu,ENST00000334268,;	1415	174	96	SUCCESS
LAMA2	3908	.	GRCh37	6	129704303	129704303	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	34	153	0	ENST00000421865.2:c.4996C>T	p.Gln1666Ter	p.Q1666*	ENST00000421865	NM_001079823.1	1666	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS5138.1	4996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGACAGGAT	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Pfam_domain:PF06008	.	.	ENSP00000400365	.	35/65	.	.	.	.	.	.	.	.	.	35/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,stop_gained,p.Gln1666Ter,ENST00000421865,;	5045	153	61	SUCCESS
SAMD5	389432	.	GRCh37	6	147830394	147830394	+	synonymous_variant	Silent	SNP	T	T	C	rs370342734	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	65	0	ENST00000367474.1:c.330T>C	p.Ser110=	p.S110=	ENST00000367474	NM_001030060.2	110	tcT/tcC	0	G:0.0032	.	.	.	.	C	S	protein_coding	YES	CCDS34548.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCTCGCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12301	.	G:0	ENSP00000356444	.	1/2	.	.	.	.	.	.	.	.	rs370342734	1/2	PASS	ENST00000367474	Transcript	.	.	ENSG00000203727	21180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAMD5_HUMAN	SAMD5	HGNC	.	.	UPI000022CCF8	SNV	SAMD5,synonymous_variant,p.%3D,ENST00000566741,;SAMD5,synonymous_variant,p.%3D,ENST00000367474,;	332	65	36	SUCCESS
MYLK4	340156	.	GRCh37	6	2685717	2685717	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	91	0	ENST00000274643.7:c.435G>A		p.X145_splice	ENST00000274643	NM_001012418.3	145	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS34330.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCTTGTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF119,hmmpanther:PTHR24347,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000274643	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000274643	Transcript	.	.	ENSG00000145949	27972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYLK4_HUMAN	MYLK4	HGNC	.	.	UPI00000498AE	SNV	MYLK4,synonymous_variant,p.%3D,ENST00000274643,;MYLK4,synonymous_variant,p.%3D,ENST00000268446,;	778	91	91	SUCCESS
CSNK2B	1460	.	GRCh37	6	31635683	31635683	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	65	0	ENST00000375865.2:c.111T>C	p.Thr37=	p.T37=	ENST00000375865		37	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	.	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTGGACT	NONE	.	.	hmmpanther:PTHR11740,Pfam_domain:PF01214,Gene3D:1qf8A01,SMART_domains:SM01085,Superfamily_domains:0047698,Prints_domain:PR00472	.	.	ENSP00000365040	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000375880	Transcript	.	.	ENSG00000263020	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSNK2B-LY6G5B-1181	Uniprot_gn	Q5SRQ3_HUMAN	.	UPI00004702F4	SNV	CSNK2B-LY6G5B-1181,synonymous_variant,p.%3D,ENST00000375880,;CSNK2B,synonymous_variant,p.%3D,ENST00000375885,;CSNK2B,synonymous_variant,p.%3D,ENST00000375865,;CSNK2B,synonymous_variant,p.%3D,ENST00000375866,;CSNK2B,synonymous_variant,p.%3D,ENST00000375882,;CSNK2B-LY6G5B-1181,upstream_gene_variant,,ENST00000409691,;GPANK1,upstream_gene_variant,,ENST00000456540,;GPANK1,upstream_gene_variant,,ENST00000375906,;GPANK1,upstream_gene_variant,,ENST00000375900,;GPANK1,upstream_gene_variant,,ENST00000458083,;GPANK1,upstream_gene_variant,,ENST00000445768,;LY6G5B,upstream_gene_variant,,ENST00000409525,;GPANK1,upstream_gene_variant,,ENST00000375895,;GPANK1,upstream_gene_variant,,ENST00000375896,;GPANK1,upstream_gene_variant,,ENST00000375893,;LY6G5B,upstream_gene_variant,,ENST00000375864,;Y_RNA,downstream_gene_variant,,ENST00000364337,;LY6G5B,upstream_gene_variant,,ENST00000471088,;CSNK2B,non_coding_transcript_exon_variant,,ENST00000468255,;CSNK2B,non_coding_transcript_exon_variant,,ENST00000481269,;CSNK2B,non_coding_transcript_exon_variant,,ENST00000465481,;CSNK2B,downstream_gene_variant,,ENST00000475875,;	229	65	76	SUCCESS
VARS	0	.	GRCh37	6	31760763	31760763	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs138074588	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	145	0	ENST00000375663.3:c.522C>T		p.X174_splice	ENST00000375663	NM_006295.2	174	taC/taT	0	.	A:0	.	A:0	.	A	Y	protein_coding	YES	CCDS34412.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACGTATCG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF47616,Pfam_domain:PF00043,Gene3D:1.20.1050.10,PROSITE_profiles:PS50405	A:0.003	.	ENSP00000364815	A:0	3/30	.	.	.	.	.	.	.	.	rs138074588	3/30	PASS	ENST00000375663	Transcript	.	A:0.0006	ENSG00000204394	12651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SYVC_HUMAN	VARS	HGNC	A2ABF4_HUMAN	.	UPI00001366EA	SNV	VARS,synonymous_variant,p.%3D,ENST00000440048,;VARS,synonymous_variant,p.%3D,ENST00000375663,;VARS,splice_region_variant,,ENST00000444930,;LSM2,downstream_gene_variant,,ENST00000375661,;LSM2,downstream_gene_variant,,ENST00000491421,;LSM2,downstream_gene_variant,,ENST00000477182,;LSM2,downstream_gene_variant,,ENST00000470083,;LSM2,downstream_gene_variant,,ENST00000470086,;LSM2,downstream_gene_variant,,ENST00000493387,;VARS,upstream_gene_variant,,ENST00000495010,;VARS,upstream_gene_variant,,ENST00000489979,;	963	145	103	SUCCESS
COL11A2	1302	.	GRCh37	6	33145203	33145204	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	107	0	ENST00000374708.4:c.1696_1698dup	p.Gly566dup	p.G566dup	ENST00000374708	NM_080681.2	566	-/GGC	0	.	.	.	.	.	GCC	-/G	protein_coding	YES	CCDS43452.1	1698-1699	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGGTGCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	21/64	.	.	.	.	.	.	.	.	.	21/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	insertion	COL11A2,inframe_insertion,p.Gly592dup,ENST00000395197,;COL11A2,inframe_insertion,p.Gly605dup,ENST00000374713,;COL11A2,inframe_insertion,p.Gly545dup,ENST00000361917,;COL11A2,inframe_insertion,p.Gly571dup,ENST00000374712,;COL11A2,inframe_insertion,p.Gly631dup,ENST00000357486,;COL11A2,inframe_insertion,p.Gly566dup,ENST00000374708,;COL11A2,inframe_insertion,p.Gly652dup,ENST00000341947,;COL11A2,inframe_insertion,p.Gly626dup,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	1957-1958	107	70	SUCCESS
SLC26A8	116369	.	GRCh37	6	35944984	35944984	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	180	2	ENST00000355574.2:c.1170C>T	p.Asn390=	p.N390=	ENST00000355574	NM_001193476.1	390	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4813.1	1170	RADIA|SOMATICSNIPER|VARSCANS	.	ACCTGGTTGGA	NONE	.	.	hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF11,Pfam_domain:PF00916	.	.	ENSP00000417638	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000490799	Transcript	.	.	ENSG00000112053	14468	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S26A8_HUMAN	SLC26A8	HGNC	.	.	UPI00000739C0	SNV	SLC26A8,synonymous_variant,p.%3D,ENST00000490799,;SLC26A8,synonymous_variant,p.%3D,ENST00000355574,;SLC26A8,synonymous_variant,p.%3D,ENST00000394602,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000486155,;	1524	182	122	SUCCESS
DNAH8	1769	.	GRCh37	6	38897346	38897346	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	86	0	ENST00000359357.3:c.10527C>A	p.Gly3509=	p.G3509=	ENST00000359357		3509	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	10527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGCCGACC	NONE	.	.	Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	73/91	.	.	.	.	.	.	.	.	.	73/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,synonymous_variant,p.%3D,ENST00000359357,;DNAH8,synonymous_variant,p.%3D,ENST00000327475,;DNAH8,synonymous_variant,p.%3D,ENST00000441566,;DNAH8,synonymous_variant,p.%3D,ENST00000449981,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000453417,;RP1-207H1.3,intron_variant,,ENST00000418399,;RP1-207H1.3,intron_variant,,ENST00000416948,;RP1-207H1.2,downstream_gene_variant,,ENST00000407768,;	10781	86	61	SUCCESS
ABCC10	89845	.	GRCh37	6	43400067	43400067	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	36	0	ENST00000372530.4:c.349C>G	p.Leu117Val	p.L117V	ENST00000372530	NM_001198934.1	117	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS56430.1	349	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCTGGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223	.	.	ENSP00000361608	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.27)	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,missense_variant,p.Leu117Val,ENST00000372530,;ABCC10,missense_variant,p.Leu74Val,ENST00000244533,;ABCC10,intron_variant,,ENST00000372515,;ABCC10,intron_variant,,ENST00000443426,;ABCC10,downstream_gene_variant,,ENST00000502549,;ABCC10,upstream_gene_variant,,ENST00000463024,;	564	36	32	SUCCESS
PKHD1	5314	.	GRCh37	6	51524481	51524481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	117	0	ENST00000371117.3:c.10443G>T	p.Leu3481Phe	p.L3481F	ENST00000371117	NM_138694.3	3481	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4935.1	10443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGCAAAAC	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	61/67	.	.	.	.	.	.	.	.	.	61/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	tolerated(0.3)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Leu3481Phe,ENST00000371117,;	10719	117	103	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121653745	121653745	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	46	181	0	ENST00000393386.2:c.4645A>C	p.Ser1549Arg	p.S1549R	ENST00000393386	NM_001206838.1	1549	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS34740.1	4645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAAGTGGA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Ser1549Arg,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,downstream_gene_variant,,ENST00000483028,;	5056	181	137	SUCCESS
RSPH10B2	728194	.	GRCh37	7	6803595	6803595	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771720978	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	343	87	554	0	ENST00000297186.3:c.436G>A	p.Val146Met	p.V146M	ENST00000297186		146	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS43552.1	436	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGTGTAC	NONE	byFrequency	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF131,Gene3D:1h3iA01,Pfam_domain:PF02493,SMART_domains:SM00698,Superfamily_domains:0038399	.	.	ENSP00000384766	.	5/20	.	.	.	.	.	.	.	.	rs771720978	5/20	PASS	ENST00000403107	Transcript	.	.	ENSG00000169402	34385	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.243)	.	tolerated(0.32)	.	R10B2_HUMAN	RSPH10B2	HGNC	C9JJN2_HUMAN	.	UPI000020EAF6	SNV	RSPH10B2,missense_variant,p.Val146Met,ENST00000404077,;RSPH10B2,missense_variant,p.Val146Met,ENST00000403107,;RSPH10B2,missense_variant,p.Val146Met,ENST00000297186,;RSPH10B2,missense_variant,p.Val146Met,ENST00000433859,;RSPH10B2,5_prime_UTR_variant,,ENST00000359718,;RSPH10B2,non_coding_transcript_exon_variant,,ENST00000485129,;RSPH10B2,non_coding_transcript_exon_variant,,ENST00000497737,;RSPH10B2,non_coding_transcript_exon_variant,,ENST00000463354,;RSPH10B2,non_coding_transcript_exon_variant,,ENST00000489190,;RSPH10B2,upstream_gene_variant,,ENST00000485920,;	823	554	430	SUCCESS
RUNDC3B	154661	.	GRCh37	7	87459284	87459284	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750557108	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	115	0	ENST00000338056.3:c.1361C>G	p.Ser454Cys	p.S454C	ENST00000338056	NM_138290.2	454	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS5609.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCTAATG	NONE	.	.	.	.	.	ENSP00000337732	.	12/12	.	.	.	.	.	.	.	.	rs750557108	12/12	PASS	ENST00000338056	Transcript	.	.	ENSG00000105784	30286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	RUN3B_HUMAN	RUNDC3B	HGNC	.	.	UPI0000071425	SNV	RUNDC3B,missense_variant,p.Ser454Cys,ENST00000338056,;RUNDC3B,missense_variant,p.Ser437Cys,ENST00000394654,;RUNDC3B,missense_variant,p.Ser388Cys,ENST00000493037,;SLC25A40,downstream_gene_variant,,ENST00000341119,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,;	1772	115	110	SUCCESS
KLF10	7071	.	GRCh37	8	103664417	103664417	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	67	91	0	ENST00000285407.6:c.245C>G	p.Pro82Arg	p.P82R	ENST00000285407	NM_005655.3	82	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS6294.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCAGGTGTT	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF21	.	.	ENSP00000285407	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000285407	Transcript	.	.	ENSG00000155090	11810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.303)	.	tolerated(0.15)	.	KLF10_HUMAN	KLF10	HGNC	.	.	UPI000012DED8	SNV	KLF10,missense_variant,p.Pro71Arg,ENST00000395884,;KLF10,missense_variant,p.Pro82Arg,ENST00000285407,;	546	91	112	SUCCESS
DGAT1	8694	.	GRCh37	8	145540696	145540696	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	78	0	ENST00000528718.1:n.380T>G		p.*127*	ENST00000528718		413		0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS6420.1	1237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAAGGCCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF7,Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500231	.	.	ENSP00000332258	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	SNV	DGAT1,missense_variant,p.Phe413Val,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,non_coding_transcript_exon_variant,,ENST00000526479,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527438,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000530661,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527885,;DGAT1,non_coding_transcript_exon_variant,,ENST00000528718,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;HSF1,downstream_gene_variant,,ENST00000527328,;	1511	78	81	SUCCESS
ZNF7	7553	.	GRCh37	8	146054920	146054920	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	42	144	0	ENST00000528372.1:c.61C>T	p.Leu21=	p.L21=	ENST00000528372		21	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6435.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCTGGAC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000432724	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,synonymous_variant,p.%3D,ENST00000528372,;ZNF7,synonymous_variant,p.%3D,ENST00000533314,;ZNF7,synonymous_variant,p.%3D,ENST00000446747,;ZNF7,synonymous_variant,p.%3D,ENST00000325217,;ZNF7,synonymous_variant,p.%3D,ENST00000325241,;ZNF7,synonymous_variant,p.%3D,ENST00000532777,;ZNF7,synonymous_variant,p.%3D,ENST00000525266,;ZNF7,synonymous_variant,p.%3D,ENST00000529819,;ZNF7,synonymous_variant,p.%3D,ENST00000528130,;ZNF7,synonymous_variant,p.%3D,ENST00000527218,;ZNF7,intron_variant,,ENST00000544249,;ZNF7,non_coding_transcript_exon_variant,,ENST00000532051,;ZNF7,intron_variant,,ENST00000530776,;ZNF7,intron_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000529767,;ZNF7,non_coding_transcript_exon_variant,,ENST00000532382,;ZNF7,non_coding_transcript_exon_variant,,ENST00000530682,;ZNF7,intron_variant,,ENST00000530082,;ZNF7,upstream_gene_variant,,ENST00000528017,;	301	144	157	SUCCESS
EGR3	1960	.	GRCh37	8	22548606	22548606	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	41	136	0	ENST00000317216.2:c.544G>T	p.Ala182Ser	p.A182S	ENST00000317216	NM_004430.2	182	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6033.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGCCGGCT	NONE	.	.	hmmpanther:PTHR10042:SF24,hmmpanther:PTHR10042	.	.	ENSP00000318057	.	2/2	.	.	.	.	.	.	.	.	COSM3951510	2/2	PASS	ENST00000317216	Transcript	.	.	ENSG00000179388	3240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	tolerated(0.59)	1	EGR3_HUMAN	EGR3	HGNC	B4DH80_HUMAN	.	UPI0000129E0F	SNV	EGR3,missense_variant,p.Ala144Ser,ENST00000522910,;EGR3,missense_variant,p.Ala182Ser,ENST00000317216,;EGR3,3_prime_UTR_variant,,ENST00000519492,;RP11-459E5.1,intron_variant,,ENST00000523627,;EGR3,non_coding_transcript_exon_variant,,ENST00000524088,;EGR3,downstream_gene_variant,,ENST00000518773,;	902	136	68	SUCCESS
SCARA5	286133	.	GRCh37	8	27824054	27824054	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs111460095	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	25	235	0	ENST00000354914.3:c.118T>C	p.Cys40Arg	p.C40R	ENST00000354914	NM_173833.5	40	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS6064.1	118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACATGGAC	NONE	.	.	hmmpanther:PTHR24021:SF17,hmmpanther:PTHR24021	.	.	ENSP00000346990	.	3/9	.	.	.	.	.	.	.	.	rs111460095	3/9	PASS	ENST00000354914	Transcript	.	.	ENSG00000168079	28701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.54)	.	SCAR5_HUMAN	SCARA5	HGNC	.	.	UPI000015FA6D	SNV	SCARA5,missense_variant,p.Cys40Arg,ENST00000354914,;SCARA5,missense_variant,p.Cys40Arg,ENST00000380385,;SCARA5,missense_variant,p.Cys40Arg,ENST00000524352,;SCARA5,intron_variant,,ENST00000518030,;SCARA5,intron_variant,,ENST00000301906,;	604	235	132	SUCCESS
KAT6A	7994	.	GRCh37	8	41906233	41906233	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	128	0	ENST00000265713.2:c.263A>T	p.His88Leu	p.H88L	ENST00000265713	NM_006766.3	88	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS6124.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGGTTC	NONE	.	.	hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615,SMART_domains:SM00526	.	.	ENSP00000380136	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000396930	Transcript	1	.	ENSG00000083168	13013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	KAT6A_HUMAN	KAT6A	HGNC	A5PKX7_HUMAN	.	UPI000013D666	SNV	KAT6A,missense_variant,p.His88Leu,ENST00000396930,;KAT6A,missense_variant,p.His88Leu,ENST00000406337,;KAT6A,missense_variant,p.His88Leu,ENST00000485568,;KAT6A,missense_variant,p.His88Leu,ENST00000265713,;KAT6A,downstream_gene_variant,,ENST00000426524,;	807	128	76	SUCCESS
MYBL1	4603	.	GRCh37	8	67488316	67488316	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	37	160	0	ENST00000522677.3:c.1396G>T	p.Gly466Cys	p.G466C	ENST00000522677	NM_001080416.2	466	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS47867.1	1396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCATCCC	NONE	.	.	hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641	.	.	ENSP00000429633	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000522677	Transcript	.	.	ENSG00000185697	7547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	tolerated(0.06)	.	MYBA_HUMAN	MYBL1	HGNC	Q6LD85_HUMAN	.	UPI000012FADE	SNV	MYBL1,missense_variant,p.Gly466Cys,ENST00000522677,;MYBL1,missense_variant,p.Gly466Cys,ENST00000524176,;MYBL1,missense_variant,p.Gly124Cys,ENST00000517885,;	1807	160	188	SUCCESS
ENG	2022	.	GRCh37	9	130616811	130616811	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	26	0	ENST00000373203.4:c.-177T>C		p.*59*	ENST00000373203	NM_000118.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS48029.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGTGGACACAG	NONE	.	.	.	.	.	ENSP00000362299	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000373203	Transcript	.	.	ENSG00000106991	3349	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EGLN_HUMAN	ENG	HGNC	Q71V36_HUMAN,F5GX88_HUMAN	.	UPI0000129E00	SNV	ENG,5_prime_UTR_variant,,ENST00000344849,;ENG,5_prime_UTR_variant,,ENST00000373203,;	225	26	13	SUCCESS
PPP1R26	9858	.	GRCh37	9	138376480	138376480	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	63	0	ENST00000356818.2:c.124T>A	p.Ser42Thr	p.S42T	ENST00000356818	NM_014811.3	42	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS6988.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGTCGGTG	NONE	.	.	hmmpanther:PTHR15724	.	.	ENSP00000349274	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356818	Transcript	.	.	ENSG00000196422	29089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.02)	.	PPR26_HUMAN	PPP1R26	HGNC	Q5T8A6_HUMAN	.	UPI000013DB17	SNV	PPP1R26,missense_variant,p.Ser42Thr,ENST00000604351,;PPP1R26,missense_variant,p.Ser42Thr,ENST00000605660,;PPP1R26,missense_variant,p.Ser42Thr,ENST00000356818,;PPP1R26,missense_variant,p.Ser42Thr,ENST00000401470,;PPP1R26,missense_variant,p.Ser42Thr,ENST00000605286,;PPP1R26-AS1,upstream_gene_variant,,ENST00000603893,;PPP1R26-AS1,upstream_gene_variant,,ENST00000605260,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26,intron_variant,,ENST00000602993,;	673	63	46	SUCCESS
DENND4C	55667	.	GRCh37	9	19372063	19372063	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	38	142	0	ENST00000602925.1:c.5622A>G	p.Ala1874=	p.A1874=	ENST00000602925	NM_017925.5	1874	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6491.3	5622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCATACAA	NONE	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17	.	.	ENSP00000473565	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,synonymous_variant,p.%3D,ENST00000361024,;DENND4C,synonymous_variant,p.%3D,ENST00000380432,;DENND4C,synonymous_variant,p.%3D,ENST00000434457,;DENND4C,synonymous_variant,p.%3D,ENST00000602925,;DENND4C,3_prime_UTR_variant,,ENST00000380427,;RPS6,downstream_gene_variant,,ENST00000380384,;RPS6,downstream_gene_variant,,ENST00000315377,;RPS6,downstream_gene_variant,,ENST00000380394,;RP11-513M16.8,upstream_gene_variant,,ENST00000609982,;RP11-513M16.7,upstream_gene_variant,,ENST00000609609,;RPS6,downstream_gene_variant,,ENST00000498815,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	6038	142	72	SUCCESS
TAF1L	138474	.	GRCh37	9	32631818	32631818	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	91	292	1	ENST00000242310.4:c.3760A>C	p.Lys1254Gln	p.K1254Q	ENST00000242310	NM_153809.2	1254	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS35003.1	3760	RADIA|MUTECT|MUSE	.	CCGCTTAAGCC	BUFFER|p.R1252W|c.3754C>T|3	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.969)	.	deleterious(0.01)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Lys1254Gln,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	3850	293	249	SUCCESS
TAF1L	138474	.	GRCh37	9	32631838	32631838	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	93	306	1	ENST00000242310.4:c.3740A>T	p.Gln1247Leu	p.Q1247L	ENST00000242310	NM_153809.2	1247	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS35003.1	3740	RADIA|MUTECT|MUSE	.	GCTCTTGAATC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Gln1247Leu,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	3830	307	263	SUCCESS
ISCA1	81689	.	GRCh37	9	88889128	88889128	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	76	0	ENST00000375991.4:c.111A>G	p.Gln37=	p.Q37=	ENST00000375991	NM_030940.3	37	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS35056.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGTTGTTT	NONE	.	.	hmmpanther:PTHR10072:SF41,hmmpanther:PTHR10072,TIGRFAM_domain:TIGR00049,Gene3D:2.60.300.12,Pfam_domain:PF01521,Superfamily_domains:SSF89360	.	.	ENSP00000365159	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000375991	Transcript	.	.	ENSG00000135070	28660	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ISCA1_HUMAN	ISCA1	HGNC	Q5TBE2_HUMAN	.	UPI000007259F	SNV	ISCA1,synonymous_variant,p.%3D,ENST00000375991,;ISCA1,synonymous_variant,p.%3D,ENST00000326094,;ISCA1,synonymous_variant,p.%3D,ENST00000452279,;ISCA1,5_prime_UTR_variant,,ENST00000311534,;	182	76	57	SUCCESS
NXNL2	158046	.	GRCh37	9	91150364	91150364	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	4	118	0	ENST00000375854.3:c.15G>C	p.Leu5=	p.L5=	ENST00000375854	NM_001161625.1	5	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS55325.1	15	MUTECT|MUSE	.	ATTCTGGGCGA	NONE	.	.	hmmpanther:PTHR13871:SF24,hmmpanther:PTHR13871	.	.	ENSP00000365014	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375854	Transcript	.	.	ENSG00000130045	30482	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NXNL2_HUMAN	NXNL2	HGNC	.	.	UPI00004588E9	SNV	NXNL2,synonymous_variant,p.%3D,ENST00000375855,;NXNL2,synonymous_variant,p.%3D,ENST00000375854,;NXNL2,non_coding_transcript_exon_variant,,ENST00000487646,;NXNL2,non_coding_transcript_exon_variant,,ENST00000478686,;	349	118	87	SUCCESS
OGT	8473	.	GRCh37	X	70775091	70775091	+	synonymous_variant	Silent	SNP	G	G	T	rs368669080	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	69	114	0	ENST00000373719.3:c.780G>T	p.Val260=	p.V260=	ENST00000373719	NM_181673.2	260	gtG/gtT	0	C:0.0003	.	.	.	.	T	V	protein_coding	YES	CCDS14414.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGGTGCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF369,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	C:0	ENSP00000362824	.	7/22	.	.	.	.	.	.	.	.	rs368669080	7/22	PASS	ENST00000373719	Transcript	.	.	ENSG00000147162	8127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OGT1_HUMAN	OGT	HGNC	C9JZL3_HUMAN	.	UPI0000073C9F	SNV	OGT,synonymous_variant,p.%3D,ENST00000373701,;OGT,synonymous_variant,p.%3D,ENST00000373719,;OGT,downstream_gene_variant,,ENST00000455587,;OGT,non_coding_transcript_exon_variant,,ENST00000459760,;OGT,intron_variant,,ENST00000488174,;OGT,upstream_gene_variant,,ENST00000462638,;OGT,upstream_gene_variant,,ENST00000466181,;	997	114	92	SUCCESS
SORCS1	114815	.	GRCh37	10	108924108	108924108	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	60	0	ENST00000263054.6:c.177G>T	p.Gln59His	p.Q59H	ENST00000263054	NM_001206570.1	59	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS31283.1	177	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCTGGTG	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106	.	.	ENSP00000345964	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	deleterious_low_confidence(0.05)	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Gln59His,ENST00000263054,;SORCS1,missense_variant,p.Gln59His,ENST00000344440,;	177	60	58	SUCCESS
CACNB2	783	.	GRCh37	10	18828423	18828423	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772557073	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	70	192	0	ENST00000324631.7:c.1753C>T	p.His585Tyr	p.H585Y	ENST00000324631	NM_201593.2	585	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS7125.1	1753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACACCGT	CODON|p.S560L|c.1679C>T|3,CODON|p.S530L|c.1589C>T|3,CODON|p.S529L|c.1586C>T|3	.	.	hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF9	.	.	ENSP00000320025	.	14/14	.	.	.	.	.	.	.	.	rs772557073	14/14	PASS	ENST00000324631	Transcript	1	.	ENSG00000165995	1402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.752)	.	tolerated(0.3)	.	CACB2_HUMAN	CACNB2	HGNC	.	.	UPI00001AEA80	SNV	CACNB2,missense_variant,p.His335Tyr,ENST00000377328,;CACNB2,missense_variant,p.His530Tyr,ENST00000396576,;CACNB2,missense_variant,p.His531Tyr,ENST00000377329,;CACNB2,missense_variant,p.His585Tyr,ENST00000324631,;CACNB2,missense_variant,p.His537Tyr,ENST00000377315,;CACNB2,missense_variant,p.His557Tyr,ENST00000282343,;CACNB2,missense_variant,p.His533Tyr,ENST00000377331,;CACNB2,missense_variant,p.His561Tyr,ENST00000352115,;CACNB2,missense_variant,p.His492Tyr,ENST00000377319,;RP11-499P20.2,intron_variant,,ENST00000425669,;RP11-499P20.2,downstream_gene_variant,,ENST00000436485,;	1813	192	186	SUCCESS
ZNF239	8187	.	GRCh37	10	44052197	44052197	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	84	0	ENST00000306006.6:c.1331C>T	p.Ser444Phe	p.S444F	ENST00000306006	NM_005674.2	444	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS41502.1	1331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGAGCTC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF114,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000307774	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306006	Transcript	.	.	ENSG00000196793	13031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	ZN239_HUMAN	ZNF239	HGNC	.	.	UPI000006DD0E	SNV	ZNF239,missense_variant,p.Ser444Phe,ENST00000374446,;ZNF239,missense_variant,p.Ser444Phe,ENST00000306006,;ZNF239,missense_variant,p.Ser444Phe,ENST00000535642,;ZNF239,missense_variant,p.Ser444Phe,ENST00000426961,;ZNF239,downstream_gene_variant,,ENST00000491188,;	1984	84	86	SUCCESS
TMEM72	643236	.	GRCh37	10	45406975	45406975	+	synonymous_variant	Silent	SNP	G	G	A	rs1170143876	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	35	0	ENST00000389583.4:c.15G>A	p.Val5=	p.V5=	ENST00000389583	NM_001123376.1	5	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS41504.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGTTCTG	NONE	.	.	.	.	.	ENSP00000374234	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000389583	Transcript	.	.	ENSG00000187783	31658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM72_HUMAN	TMEM72	HGNC	.	.	UPI000036669E	SNV	TMEM72,synonymous_variant,p.%3D,ENST00000389583,;TMEM72,5_prime_UTR_variant,,ENST00000544540,;RP11-285G1.2,intron_variant,,ENST00000436877,;TMEM72-AS1,intron_variant,,ENST00000450287,;	328	35	29	SUCCESS
WDFY4	57705	.	GRCh37	10	49935534	49935534	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	76	0	ENST00000325239.5:c.801C>A	p.Leu267=	p.L267=	ENST00000325239	NM_020945.1	267	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44385.1	801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCTCCCT	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000320563	.	6/61	.	.	.	.	.	.	.	.	.	6/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000413659,;WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000360890,;	828	77	68	SUCCESS
ITIH5	80760	.	GRCh37	10	7659077	7659077	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	81	0	ENST00000256861.6:c.821A>T	p.Gln274Leu	p.Q274L	ENST00000256861	NM_030569.6	274	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	821	MUTECT|MUSE	.	TTACCTGGATG	NONE	.	.	hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Superfamily_domains:SSF53300	.	.	ENSP00000256861	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Gln274Leu,ENST00000397146,;ITIH5,missense_variant,p.Gln56Leu,ENST00000446830,;ITIH5,missense_variant,p.Gln60Leu,ENST00000298441,;ITIH5,missense_variant,p.Gln274Leu,ENST00000256861,;ITIH5,missense_variant,p.Gln274Leu,ENST00000397145,;ITIH5,splice_region_variant,,ENST00000434980,;ITIH5,missense_variant,p.Gln52Leu,ENST00000461751,;ITIH5,splice_region_variant,,ENST00000476417,;	900	81	97	SUCCESS
DDI1	414301	.	GRCh37	11	103907408	103907408	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	16	0	ENST00000302259.3:c.-143C>T		p.*48*	ENST00000302259	NM_001001711.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31660.1	.	MUTECT|MUSE	.	GTCCGCGCCTC	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,5_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000529268,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;	101	16	12	SUCCESS
ELMOD1	55531	.	GRCh37	11	107488869	107488869	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	64	140	0	ENST00000265840.7:c.-47T>C		p.*16*	ENST00000265840	NM_018712.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44723.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATTACTTG	NONE	.	.	.	.	.	ENSP00000265840	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000265840	Transcript	.	.	ENSG00000110675	25334	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMD1_HUMAN	ELMOD1	HGNC	E9PLM8_HUMAN	.	UPI000006DF30	SNV	ELMOD1,5_prime_UTR_variant,,ENST00000443271,;ELMOD1,5_prime_UTR_variant,,ENST00000531234,;ELMOD1,5_prime_UTR_variant,,ENST00000265840,;ELMOD1,non_coding_transcript_exon_variant,,ENST00000524378,;ELMOD1,non_coding_transcript_exon_variant,,ENST00000527036,;	219	140	150	SUCCESS
KCNA4	3739	.	GRCh37	11	30034089	30034089	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs764565549	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	29	0	ENST00000328224.6:c.137C>G	p.Ala46Gly	p.A46G	ENST00000328224	NM_002233.3	46	gCg/gGg	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS41629.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGCTGCA	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1kn7A00,Pfam_domain:PF07941,Prints_domain:PR01511	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	rs764565549,COSM3415795	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	tolerated_low_confidence(0.44)	0,1	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,missense_variant,p.Ala46Gly,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	1371	29	36	SUCCESS
PACSIN3	29763	.	GRCh37	11	47201829	47201829	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	42	0	ENST00000298838.6:c.511G>T	p.Glu171Ter	p.E171*	ENST00000298838	NM_016223.4	171	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS31481.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCCTCG	NONE	.	.	hmmpanther:PTHR10959:SF1,hmmpanther:PTHR10959,Superfamily_domains:SSF103657	.	.	ENSP00000440945	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000539589	Transcript	.	.	ENSG00000165912	8572	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACN3_HUMAN	PACSIN3	HGNC	E9PQ12_HUMAN,E9PNM9_HUMAN,E9PJ75_HUMAN,E9PJ33_HUMAN,E9PIZ6_HUMAN	.	UPI0000034CB1	SNV	PACSIN3,stop_gained,p.Glu171Ter,ENST00000298838,;PACSIN3,stop_gained,p.Glu171Ter,ENST00000539589,;PACSIN3,stop_gained,p.Glu171Ter,ENST00000528462,;PACSIN3,5_prime_UTR_variant,,ENST00000530513,;PACSIN3,5_prime_UTR_variant,,ENST00000528201,;ARFGAP2,upstream_gene_variant,,ENST00000527927,;ARFGAP2,upstream_gene_variant,,ENST00000319543,;ARFGAP2,upstream_gene_variant,,ENST00000524782,;ARFGAP2,upstream_gene_variant,,ENST00000525314,;ARFGAP2,upstream_gene_variant,,ENST00000530596,;ARFGAP2,upstream_gene_variant,,ENST00000419701,;ARFGAP2,upstream_gene_variant,,ENST00000526342,;ARFGAP2,upstream_gene_variant,,ENST00000426335,;PACSIN3,downstream_gene_variant,,ENST00000525725,;PACSIN3,upstream_gene_variant,,ENST00000533686,;ARFGAP2,upstream_gene_variant,,ENST00000525398,;PACSIN3,downstream_gene_variant,,ENST00000531226,;PACSIN3,downstream_gene_variant,,ENST00000524509,;ARFGAP2,upstream_gene_variant,,ENST00000528444,;PACSIN3,downstream_gene_variant,,ENST00000530405,;ARFGAP2,upstream_gene_variant,,ENST00000395449,;ARFGAP2,upstream_gene_variant,,ENST00000533939,;ARFGAP2,upstream_gene_variant,,ENST00000531750,;ARFGAP2,upstream_gene_variant,,ENST00000529599,;PACSIN3,stop_gained,p.Glu171Ter,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000527097,;ARFGAP2,upstream_gene_variant,,ENST00000529439,;ARFGAP2,upstream_gene_variant,,ENST00000529455,;ARFGAP2,upstream_gene_variant,,ENST00000532478,;ARFGAP2,upstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000528708,;ARFGAP2,upstream_gene_variant,,ENST00000530794,;ARFGAP2,upstream_gene_variant,,ENST00000532438,;ARFGAP2,upstream_gene_variant,,ENST00000528041,;ARFGAP2,upstream_gene_variant,,ENST00000533243,;ARFGAP2,upstream_gene_variant,,ENST00000524727,;ARFGAP2,upstream_gene_variant,,ENST00000524586,;ARFGAP2,upstream_gene_variant,,ENST00000526185,;	854	42	38	SUCCESS
MMP26	56547	.	GRCh37	11	5013312	5013312	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	67	156	0	ENST00000300762.1:c.714C>T	p.Phe238=	p.F238=	ENST00000300762	NM_021801.3	238	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS7752.1	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCCAGCT	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF76,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	.	ENSP00000369753	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000380390	Transcript	.	.	ENSG00000167346	14249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP26_HUMAN	MMP26	HGNC	.	.	UPI0000047AFC	SNV	MMP26,synonymous_variant,p.%3D,ENST00000300762,;MMP26,synonymous_variant,p.%3D,ENST00000380390,;MMP26,downstream_gene_variant,,ENST00000477339,;	930	156	175	SUCCESS
OR5D13	390142	.	GRCh37	11	55541283	55541283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	67	146	0	ENST00000361760.1:c.370C>A	p.Arg124Ser	p.R124S	ENST00000361760	NM_001001967.1	124	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS31507.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACCGTTTT	BUFFER|p.R124H|c.371G>A|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000354800	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361760	Transcript	.	.	ENSG00000198877	15280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0)	.	OR5DD_HUMAN	OR5D13	HGNC	.	.	UPI0000041C36	SNV	OR5D13,missense_variant,p.Arg124Ser,ENST00000361760,;	370	146	161	SUCCESS
OR8J3	81168	.	GRCh37	11	55905105	55905105	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	59	156	0	ENST00000301529.1:c.90C>A	p.Val30=	p.V30=	ENST00000301529	NM_001004064.1	30	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31520.1	90	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGACCAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000301529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301529	Transcript	.	.	ENSG00000167822	15312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,synonymous_variant,p.%3D,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;OR8K4P,downstream_gene_variant,,ENST00000534608,;	90	156	128	SUCCESS
CCDC86	79080	.	GRCh37	11	60609943	60609943	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762413004	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	153	1	ENST00000227520.5:c.346T>C	p.Cys116Arg	p.C116R	ENST00000227520	NM_024098.3	116	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS7993.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGATGTCAG	NONE	.	.	hmmpanther:PTHR13557,hmmpanther:PTHR13557:SF1	.	.	ENSP00000227520	.	1/4	.	.	.	.	.	.	.	.	rs762413004	1/4	PASS	ENST00000227520	Transcript	.	.	ENSG00000110104	28359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.38)	.	CCD86_HUMAN	CCDC86	HGNC	B4DY99_HUMAN	.	UPI000003DBBA	SNV	CCDC86,missense_variant,p.Cys116Arg,ENST00000227520,;RP11-804A23.2,intron_variant,,ENST00000539897,;RP11-804A23.4,intron_variant,,ENST00000538705,;CCDC86,intron_variant,,ENST00000535217,;	400	154	133	SUCCESS
SLC22A24	283238	.	GRCh37	11	62863471	62863471	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	65	161	0	ENST00000417740.1:c.1062C>G	p.Cys354Trp	p.C354W	ENST00000417740	NM_001136506.2	354	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	.	1062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGCACAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000396586	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000417740	Transcript	.	.	ENSG00000197658	28542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.413)	.	tolerated(0.19)	.	.	SLC22A24	HGNC	C9JC66_HUMAN	.	UPI00016625C6	SNV	SLC22A24,missense_variant,p.Cys354Trp,ENST00000417740,;	1504	161	160	SUCCESS
RBMXL2	27288	.	GRCh37	11	7111063	7111063	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	81	0	ENST00000306904.5:c.712T>C	p.Tyr238His	p.Y238H	ENST00000306904	NM_014469.4	238	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS7777.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTACACC	BUFFER|p.R241H|c.722G>A|3	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF306	.	.	ENSP00000304139	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306904	Transcript	.	.	ENSG00000170748	17886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.02)	.	RMXL2_HUMAN	RBMXL2	HGNC	.	.	UPI000013EBA5	SNV	RBMXL2,missense_variant,p.Tyr238His,ENST00000306904,;	899	81	56	SUCCESS
TENM4	26011	.	GRCh37	11	78525437	78525437	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs767518041	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	85	219	0	ENST00000278550.7:c.1685C>A	p.Ser562Ter	p.S562*	ENST00000278550	NM_001098816.2	562	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS44688.1	1685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGACTCT	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	13/34	.	.	.	.	.	.	.	.	rs767518041	13/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,stop_gained,p.Ser562Ter,ENST00000278550,;	2148	219	209	SUCCESS
FZD4	8322	.	GRCh37	11	86663371	86663371	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	48	162	0	ENST00000531380.1:c.427C>A	p.Leu143Met	p.L143M	ENST00000531380	NM_012193.3	143	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS8279.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAGACTCT	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF23,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000434034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000531380	Transcript	.	.	ENSG00000174804	4042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.52)	.	FZD4_HUMAN	FZD4	HGNC	Q8TDT8_HUMAN	.	UPI00000701D4	SNV	FZD4,missense_variant,p.Leu143Met,ENST00000531380,;PRSS23,3_prime_UTR_variant,,ENST00000533902,;RP11-736K20.6,upstream_gene_variant,,ENST00000499504,;RP11-736K20.6,upstream_gene_variant,,ENST00000531827,;PRSS23,downstream_gene_variant,,ENST00000531521,;PRSS23,downstream_gene_variant,,ENST00000528769,;PRSS23,3_prime_UTR_variant,,ENST00000532234,;	733	162	135	SUCCESS
FOXN4	121643	.	GRCh37	12	109746129	109746129	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	44	92	0	ENST00000299162.5:c.-3G>C		p.X1_splice	ENST00000299162	NM_213596.2	1		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9126.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCTTGG	NONE	.	.	.	.	.	ENSP00000299162	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000299162	Transcript	.	.	ENSG00000139445	21399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXN4_HUMAN	FOXN4	HGNC	.	.	UPI0000551BEE	SNV	FOXN4,splice_region_variant,,ENST00000355216,;FOXN4,splice_region_variant,,ENST00000299162,;	103	92	92	SUCCESS
DDX11	1663	.	GRCh37	12	31253946	31253960	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	CCTGGCTCTTACCAG	CCTGGCTCTTACCAG	AGA	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	CCTGGCTCTTACCAG	CCTGGCTCTTACCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	87	0	ENST00000545668.1:c.1949-15_1949-1delinsAGA		p.X650_splice	ENST00000545668	NM_001257144.1	650		0	.	.	.	.	.	AGA	.	protein_coding	YES	CCDS44856.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCTCCCTGGCTCTTACCAGGTCAC	NONE	.	.	.	.	.	ENSP00000384703	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	HIGH	19/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	substitution	DDX11,splice_acceptor_variant,,ENST00000350437,;DDX11,splice_acceptor_variant,,ENST00000542838,;DDX11,splice_acceptor_variant,,ENST00000545668,;DDX11,splice_acceptor_variant,,ENST00000228264,;DDX11,splice_acceptor_variant,,ENST00000407793,;DDX11,splice_acceptor_variant,,ENST00000251758,;DDX11,upstream_gene_variant,,ENST00000539702,;DDX11,downstream_gene_variant,,ENST00000539673,;DDX11,splice_acceptor_variant,,ENST00000539049,;DDX11,splice_acceptor_variant,,ENST00000538740,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,intron_variant,,ENST00000542661,;DDX11,intron_variant,,ENST00000538345,;DDX11,intron_variant,,ENST00000536265,;DDX11,upstream_gene_variant,,ENST00000545115,;DDX11,upstream_gene_variant,,ENST00000542777,;DDX11,upstream_gene_variant,,ENST00000537136,;DDX11,downstream_gene_variant,,ENST00000543511,;DDX11,downstream_gene_variant,,ENST00000536580,;DDX11,downstream_gene_variant,,ENST00000539699,;RP11-551L14.7,downstream_gene_variant,,ENST00000605711,;	.	87	66	SUCCESS
DDX11	1663	.	GRCh37	12	31253960	31253961	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	79	0	ENST00000545668.1:c.1949-1_1949insA	p.Gly650GlufsTer45	p.G650Efs*45	ENST00000545668	NM_001257144.1	650	ggt/gAgt	0	.	.	.	.	.	A	G/EX	protein_coding	YES	CCDS44856.1	1948-1949	INDELOCATOR|VARSCANI	.	TACCAGGTCAC	NONE	.	.	hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,TIGRFAM_domain:TIGR00604	.	.	ENSP00000384703	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	insertion	DDX11,frameshift_variant,p.Gly650GlufsTer41,ENST00000350437,;DDX11,frameshift_variant,p.Gly650GlufsTer45,ENST00000542838,;DDX11,frameshift_variant,p.Gly650GlufsTer45,ENST00000545668,;DDX11,frameshift_variant,p.Gly624GlufsTer45,ENST00000228264,;DDX11,frameshift_variant,p.Gly650GlufsTer45,ENST00000407793,;DDX11,splice_region_variant,,ENST00000251758,;DDX11,upstream_gene_variant,,ENST00000539702,;DDX11,downstream_gene_variant,,ENST00000539673,;DDX11,splice_region_variant,,ENST00000539049,;DDX11,splice_region_variant,,ENST00000538740,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,intron_variant,,ENST00000542661,;DDX11,intron_variant,,ENST00000538345,;DDX11,intron_variant,,ENST00000536265,;DDX11,upstream_gene_variant,,ENST00000545115,;DDX11,upstream_gene_variant,,ENST00000542777,;DDX11,upstream_gene_variant,,ENST00000537136,;DDX11,downstream_gene_variant,,ENST00000543511,;DDX11,downstream_gene_variant,,ENST00000536580,;DDX11,downstream_gene_variant,,ENST00000539699,;RP11-551L14.7,downstream_gene_variant,,ENST00000605711,;	2199-2200	79	56	SUCCESS
VAMP1	6843	.	GRCh37	12	6574098	6574099	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GA	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	73	0	ENST00000396308.3:c.296_297dup	p.Met100SerfsTer12	p.M100Sfs*12	ENST00000396308	NM_199245.1	99	-/TC	0	.	.	.	.	.	GA	-/X	protein_coding	YES	CCDS41740.1	297-298	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCATGATCA	NONE	.	.	Prints_domain:PR00219,PIRSF_domain:PIRSF005409,Gene3D:2kogA00,Pfam_domain:PF00957,hmmpanther:PTHR21136:SF32,hmmpanther:PTHR21136,Transmembrane_helices:TMhelix	.	.	ENSP00000379602	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	insertion	VAMP1,frameshift_variant,p.Met100SerfsTer12,ENST00000396308,;VAMP1,frameshift_variant,p.Met100SerfsTer12,ENST00000361716,;VAMP1,frameshift_variant,p.Met100SerfsTer12,ENST00000535180,;VAMP1,frameshift_variant,p.Met100SerfsTer12,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;VAMP1,non_coding_transcript_exon_variant,,ENST00000544432,;TAPBPL,intron_variant,,ENST00000545700,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;VAMP1,downstream_gene_variant,,ENST00000539047,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,non_coding_transcript_exon_variant,,ENST00000535927,;VAMP1,non_coding_transcript_exon_variant,,ENST00000538970,;	443-444	73	70	SUCCESS
CARS2	79587	.	GRCh37	13	111358273	111358273	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	37	55	0	ENST00000257347.4:c.168C>T	p.Asn56=	p.N56=	ENST00000257347	NM_024537.2	56	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS9514.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGTTGTA	NONE	.	.	HAMAP:MF_00041,hmmpanther:PTHR10890,hmmpanther:PTHR10890:SF6,TIGRFAM_domain:TIGR00435,Superfamily_domains:SSF52374	.	.	ENSP00000257347	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000257347	Transcript	.	.	ENSG00000134905	25695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCM_HUMAN	CARS2	HGNC	.	.	UPI0000046055	SNV	CARS2,synonymous_variant,p.%3D,ENST00000257347,;CARS2,upstream_gene_variant,,ENST00000542709,;CARS2,intron_variant,,ENST00000544488,;CARS2,intron_variant,,ENST00000535398,;CARS2,intron_variant,,ENST00000542126,;CARS2,intron_variant,,ENST00000537412,;CARS2,intron_variant,,ENST00000540629,;CARS2,intron_variant,,ENST00000541443,;CARS2,intron_variant,,ENST00000485188,;CARS2,intron_variant,,ENST00000465145,;CARS2,synonymous_variant,p.%3D,ENST00000537394,;CARS2,synonymous_variant,p.%3D,ENST00000539269,;CARS2,upstream_gene_variant,,ENST00000540785,;	232	56	64	SUCCESS
GJB2	2706	.	GRCh37	13	20763464	20763464	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1291519904	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	62	0	ENST00000382844.1:c.257C>T	p.Thr86Met	p.T86M	ENST00000382844		86	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS9290.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGTGGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF46,Pfam_domain:PF00029,Gene3D:2zw3A00,Prints_domain:PR00206	.	.	ENSP00000372295	.	1/1	.	.	.	.	.	.	.	.	CM031189,CM065231	1/1	PASS	ENST00000382844	Transcript	.	.	ENSG00000165474	4284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CXB2_HUMAN	GJB2	HGNC	H9U1J4_HUMAN	.	UPI000006D6A3	SNV	GJB2,missense_variant,p.Thr86Met,ENST00000382844,;GJB2,missense_variant,p.Thr86Met,ENST00000382848,;	456	62	62	SUCCESS
MTMR6	9107	.	GRCh37	13	25823489	25823497	+	frameshift_variant	Frame_Shift_Del	DEL	GAAGAGCAT	GAAGAGCAT	ATCATTTA	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	GAAGAGCAT	GAAGAGCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	95	50	181	0	ENST00000381801.5:c.1739_1747delinsTAAATGAT	p.Asp580ValfsTer6	p.D580Vfs*6	ENST00000381801	NM_004685.3	580	gATGCTCTTCga/gTAAATGATga	0	.	.	.	.	.	ATCATTTA	DALR/VNDX	protein_coding	YES	CCDS9313.1	1739-1747	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGTTCGAAGAGCATCATTT	NONE	.	.	hmmpanther:PTHR10807:SF34,hmmpanther:PTHR10807	.	.	ENSP00000371221	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000381801	Transcript	.	.	ENSG00000139505	7453	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTMR6_HUMAN	MTMR6	HGNC	Q8N5Q4_HUMAN	.	UPI00001FC8D0	substitution	MTMR6,frameshift_variant,p.Asp580ValfsTer6,ENST00000381801,;MTMR6,intron_variant,,ENST00000540661,;AL590787.1,downstream_gene_variant,,ENST00000408397,;	2501-2509	181	145	SUCCESS
GPR12	2835	.	GRCh37	13	27333433	27333433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	55	0	ENST00000381436.2:c.532G>T	p.Gly178Cys	p.G178C	ENST00000381436		178	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9319.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCATGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF8,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000384932	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000405846	Transcript	.	.	ENSG00000132975	4466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GPR12_HUMAN	GPR12	HGNC	B4DG25_HUMAN,A8K2F5_HUMAN	.	UPI000003EC24	SNV	GPR12,missense_variant,p.Gly178Cys,ENST00000405846,;GPR12,missense_variant,p.Gly178Cys,ENST00000381436,;	754	55	65	SUCCESS
PCDH9	5101	.	GRCh37	13	67799953	67799953	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	65	136	0	ENST00000377865.2:c.2620A>G	p.Arg874Gly	p.R874G	ENST00000377865		874	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS9444.1	2620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTTTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Pfam_domain:PF08374	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	tolerated(0.18)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Arg874Gly,ENST00000377861,;PCDH9,missense_variant,p.Arg874Gly,ENST00000328454,;PCDH9,missense_variant,p.Arg874Gly,ENST00000544246,;PCDH9,missense_variant,p.Arg874Gly,ENST00000377865,;PCDH9,missense_variant,p.Arg874Gly,ENST00000456367,;	3312	136	160	SUCCESS
KLHL1	57626	.	GRCh37	13	70535504	70535504	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs781724493	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	55	100	0	ENST00000377844.4:c.753G>C	p.Glu251Asp	p.E251D	ENST00000377844	NM_020866.2	251	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS9445.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCTCTTG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000367075	.	3/11	.	.	.	.	.	.	.	.	rs781724493	3/11	PASS	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.18)	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,missense_variant,p.Glu58Asp,ENST00000545028,;KLHL1,missense_variant,p.Glu251Asp,ENST00000377844,;	1513	100	119	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102500705	102500705	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	51	136	0	ENST00000360184.4:c.10670A>T	p.Asp3557Val	p.D3557V	ENST00000360184	NM_001376.4	3557	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS9966.1	10670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGATGAGC	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	56/78	.	.	.	.	.	.	.	.	.	56/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Asp33Val,ENST00000553423,;DYNC1H1,missense_variant,p.Asp3557Val,ENST00000360184,;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557551,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556791,;DYNC1H1,downstream_gene_variant,,ENST00000554854,;DYNC1H1,upstream_gene_variant,,ENST00000555800,;	10834	136	118	SUCCESS
CHMP4A	29082	.	GRCh37	14	24679870	24679870	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	42	106	0	ENST00000609024.1:c.464A>T	p.Asp155Val	p.D155V	ENST00000609024		155	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9619.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATCATCT	NONE	.	.	hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF14,Pfam_domain:PF03357	.	.	ENSP00000324205	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000347519	Transcript	.	.	ENSG00000254505	20274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.18)	.	CHM4A_HUMAN	CHMP4A	HGNC	Q14D22_HUMAN	.	UPI000000CC16	SNV	CHMP4A,missense_variant,p.Asp50Val,ENST00000530996,;CHMP4A,missense_variant,p.Asp155Val,ENST00000609024,;TM9SF1,missense_variant,p.Asp155Val,ENST00000530611,;CHMP4A,missense_variant,p.Asp165Val,ENST00000533011,;CHMP4A,missense_variant,p.Asp198Val,ENST00000347519,;TM9SF1,missense_variant,p.Asp155Val,ENST00000556387,;TSSK4,downstream_gene_variant,,ENST00000556621,;MDP1,downstream_gene_variant,,ENST00000396833,;TSSK4,downstream_gene_variant,,ENST00000555092,;TSSK4,downstream_gene_variant,,ENST00000428351,;TSSK4,downstream_gene_variant,,ENST00000553766,;NEDD8-MDP1,downstream_gene_variant,,ENST00000534348,;MDP1,downstream_gene_variant,,ENST00000288087,;TSSK4,downstream_gene_variant,,ENST00000339917,;TSSK4,downstream_gene_variant,,ENST00000287913,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000542700,;NEDD8-MDP1,downstream_gene_variant,,ENST00000604306,;MDP1,downstream_gene_variant,,ENST00000525696,;CHMP4A,downstream_gene_variant,,ENST00000531158,;MDP1,downstream_gene_variant,,ENST00000532557,;CHMP4A,3_prime_UTR_variant,,ENST00000533523,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000524955,;AL136419.6,non_coding_transcript_exon_variant,,ENST00000565988,;MDP1,downstream_gene_variant,,ENST00000533536,;AL136419.6,downstream_gene_variant,,ENST00000528804,;MDP1,downstream_gene_variant,,ENST00000466422,;MDP1,downstream_gene_variant,,ENST00000528849,;MDP1,downstream_gene_variant,,ENST00000531553,;NEDD8-MDP1,downstream_gene_variant,,ENST00000530579,;CHMP4A,downstream_gene_variant,,ENST00000527154,;NEDD8-MDP1,downstream_gene_variant,,ENST00000605847,;MDP1,downstream_gene_variant,,ENST00000532742,;TSSK4,downstream_gene_variant,,ENST00000554420,;CHMP4A,downstream_gene_variant,,ENST00000534106,;MDP1,downstream_gene_variant,,ENST00000530222,;CHMP4A,downstream_gene_variant,,ENST00000552620,;	894	106	107	SUCCESS
FOXG1	2290	.	GRCh37	14	29236691	29236691	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs727503933	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	4	153	1	ENST00000313071.4:c.206C>A	p.Pro69Gln	p.P69Q	ENST00000313071	NM_005249.4	69	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS9636.1	206	MUTECT|MUSE	uncertain_significance	GCCGCCGCAGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Superfamily_domains:SSF81995	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	rs727503933	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Pro69Gln,ENST00000313071,;FOXG1,missense_variant,p.Pro69Gln,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	575	154	107	SUCCESS
FMN1	342184	.	GRCh37	15	33260970	33260970	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	51	181	0	ENST00000559047.1:c.2932C>G	p.Pro978Ala	p.P978A	ENST00000559047	NM_001277313.1	978	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS45209.1	2263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGCTCGA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8,Pfam_domain:PF02181,SMART_domains:SM00498	.	.	ENSP00000333950	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.Pro978Ala,ENST00000559047,;FMN1,missense_variant,p.Pro880Ala,ENST00000561249,;FMN1,missense_variant,p.Pro755Ala,ENST00000334528,;SNORD77,upstream_gene_variant,,ENST00000391113,;	2263	181	169	SUCCESS
MGA	23269	.	GRCh37	15	42042688	42042688	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	45	112	0	ENST00000219905.7:c.6883G>C	p.Asp2295His	p.D2295H	ENST00000219905	NM_001164273.1	2295	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS55959.1	6883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGACTTC	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	deleterious(0)	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,missense_variant,p.Asp943His,ENST00000564190,;MGA,missense_variant,p.Asp2295His,ENST00000219905,;MGA,missense_variant,p.Asp2295His,ENST00000570161,;MGA,missense_variant,p.Asp2086His,ENST00000545763,;MGA,missense_variant,p.Asp2256His,ENST00000389936,;MGA,missense_variant,p.Asp2086His,ENST00000566586,;MGA,non_coding_transcript_exon_variant,,ENST00000566288,;	7064	112	99	SUCCESS
GALK2	2585	.	GRCh37	15	49620146	49620146	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs1330109084	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	95	0	ENST00000560031.1:c.1170-3T>C		p.X390_splice	ENST00000560031		390		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42034.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTAGGAA	NONE	.	.	.	.	.	ENSP00000453129	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000560031	Transcript	.	.	ENSG00000156958	4119	.	.	LOW	9/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GALK2_HUMAN	GALK2	HGNC	H0YNR7_HUMAN,H0YND3_HUMAN,B7ZAX5_HUMAN	.	UPI000012B06E	SNV	GALK2,splice_region_variant,,ENST00000559454,;GALK2,splice_region_variant,,ENST00000560031,;GALK2,splice_region_variant,,ENST00000543495,;GALK2,splice_region_variant,,ENST00000560528,;GALK2,splice_region_variant,,ENST00000396509,;GALK2,splice_region_variant,,ENST00000327171,;GALK2,splice_region_variant,,ENST00000544523,;GALK2,splice_region_variant,,ENST00000559580,;FAM227B,3_prime_UTR_variant,,ENST00000559573,;GALK2,intron_variant,,ENST00000558399,;FAM227B,downstream_gene_variant,,ENST00000299338,;FAM227B,downstream_gene_variant,,ENST00000560557,;GALK2,splice_region_variant,,ENST00000560119,;	.	95	94	SUCCESS
CLCN7	1186	.	GRCh37	16	1525016	1525016	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	rs745631867	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	502	211	567	0	ENST00000382745.4:c.-41del		p.*14*	ENST00000382745	NM_001287.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32361.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCTGCCCCCG	NONE	byFrequency	.	.	.	.	ENSP00000372193	.	1/25	.	.	.	.	.	.	.	.	rs745631867	1/25	PASS	ENST00000382745	Transcript	.	.	ENSG00000103249	2025	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLCN7_HUMAN	CLCN7	HGNC	Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN	.	UPI000004904C	deletion	CLCN7,5_prime_UTR_variant,,ENST00000448525,;CLCN7,5_prime_UTR_variant,,ENST00000262318,;CLCN7,5_prime_UTR_variant,,ENST00000382745,;CLCN7,upstream_gene_variant,,ENST00000564568,;CLCN7,upstream_gene_variant,,ENST00000569851,;LA16c-390E6.3,upstream_gene_variant,,ENST00000563223,;CLCN7,non_coding_transcript_exon_variant,,ENST00000566812,;CLCN7,non_coding_transcript_exon_variant,,ENST00000561665,;CLCN7,non_coding_transcript_exon_variant,,ENST00000567139,;RPS3AP2,upstream_gene_variant,,ENST00000407190,;	566	567	713	SUCCESS
IL4R	3566	.	GRCh37	16	27366527	27366530	+	intron_variant	Intron	DEL	AAAT	AAAT	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	AAAT	AAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	27	0	ENST00000395762.2:c.671-599_671-596del		p.*224*	ENST00000395762	NM_000418.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10629.1	.	INDELOCATOR|VARSCANI	.	GGAAGAAAATAAAAG	NONE	.	.	.	.	.	ENSP00000379111	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395762	Transcript	.	.	ENSG00000077238	6015	3	.	MODIFIER	7/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL4RA_HUMAN	IL4R	HGNC	J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN	.	UPI0000044371	deletion	IL4R,3_prime_UTR_variant,,ENST00000449195,;IL4R,intron_variant,,ENST00000395762,;IL4R,intron_variant,,ENST00000380922,;IL4R,intron_variant,,ENST00000543915,;IL4R,intron_variant,,ENST00000565352,;IL4R,intron_variant,,ENST00000170630,;IL4R,intron_variant,,ENST00000565179,;IL4R,intron_variant,,ENST00000565915,;IL4R,intron_variant,,ENST00000566318,;IL4R,intron_variant,,ENST00000568746,;IL4R,upstream_gene_variant,,ENST00000563886,;	.	27	16	SUCCESS
ITGAM	3684	.	GRCh37	16	31332817	31332817	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754636547	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	61	162	0	ENST00000287497.8:c.1871T>C	p.Met624Thr	p.M624T	ENST00000287497		624	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS54004.1	1874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCATGGAGT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Gene3D:1jv2A02,Pfam_domain:PF08441,SMART_domains:SM00191,Superfamily_domains:SSF69179,Prints_domain:PR01185	.	.	ENSP00000441691	.	16/30	.	.	.	.	.	.	.	.	rs754636547	16/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,missense_variant,p.Met624Thr,ENST00000287497,;ITGAM,missense_variant,p.Met625Thr,ENST00000544665,;ITGAM,intron_variant,,ENST00000567031,;ITGAM,upstream_gene_variant,,ENST00000561838,;	1945	162	145	SUCCESS
ITGAM	3684	.	GRCh37	16	31336335	31336335	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	55	0	ENST00000287497.8:c.2346C>A	p.Ile782=	p.I782=	ENST00000287497		782	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54004.1	2349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCACCTT	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000441691	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,synonymous_variant,p.%3D,ENST00000287497,;ITGAM,synonymous_variant,p.%3D,ENST00000544665,;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	2420	55	53	SUCCESS
TGFB1I1	7041	.	GRCh37	16	31485920	31485920	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	106	0	ENST00000394863.3:c.556A>C	p.Ser186Arg	p.S186R	ENST00000394863	NM_001042454.2	186	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS42156.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGAGCTCC	NONE	.	.	hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF24,PIRSF_domain:PIRSF037881	.	.	ENSP00000378332	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000394863	Transcript	.	.	ENSG00000140682	11767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.2)	.	TGFI1_HUMAN	TGFB1I1	HGNC	H3BSN4_HUMAN,H3BS04_HUMAN	.	UPI00001FFFA9	SNV	TGFB1I1,missense_variant,p.Ser186Arg,ENST00000394863,;TGFB1I1,missense_variant,p.Ser169Arg,ENST00000361773,;TGFB1I1,missense_variant,p.Ser169Arg,ENST00000394858,;TGFB1I1,missense_variant,p.Ser164Arg,ENST00000565360,;TGFB1I1,missense_variant,p.Ser169Arg,ENST00000567607,;TGFB1I1,downstream_gene_variant,,ENST00000562566,;TGFB1I1,downstream_gene_variant,,ENST00000565454,;TGFB1I1,3_prime_UTR_variant,,ENST00000563712,;TGFB1I1,3_prime_UTR_variant,,ENST00000567066,;TGFB1I1,3_prime_UTR_variant,,ENST00000564804,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000569703,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000564176,;TGFB1I1,non_coding_transcript_exon_variant,,ENST00000568142,;TGFB1I1,downstream_gene_variant,,ENST00000567524,;TGFB1I1,downstream_gene_variant,,ENST00000561785,;TGFB1I1,downstream_gene_variant,,ENST00000562165,;TGFB1I1,downstream_gene_variant,,ENST00000569254,;	686	106	104	SUCCESS
TMEM8A	0	.	GRCh37	16	422089	422089	+	synonymous_variant	Silent	SNP	C	C	A	rs141574918	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	71	0	ENST00000431232.2:c.2214G>T	p.Pro738=	p.P738=	ENST00000431232	NM_021259.2	738	ccG/ccT	0	T:0.0007	T:0.0023	.	T:0	.	A	P	protein_coding	YES	CCDS10407.1	2214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCGGCAG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14319:SF7,hmmpanther:PTHR14319	T:0	T:0	ENSP00000401338	T:0	13/13	.	.	.	.	.	.	.	.	rs141574918	13/13	PASS	ENST00000431232	Transcript	.	T:0.0006	ENSG00000129925	17205	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TMM8A_HUMAN	TMEM8A	HGNC	K4DI83_HUMAN,C9J8D7_HUMAN	.	UPI000013CCD4	SNV	TMEM8A,synonymous_variant,p.%3D,ENST00000250930,;TMEM8A,synonymous_variant,p.%3D,ENST00000424078,;TMEM8A,synonymous_variant,p.%3D,ENST00000431232,;MRPL28,upstream_gene_variant,,ENST00000447696,;MRPL28,upstream_gene_variant,,ENST00000450882,;TMEM8A,downstream_gene_variant,,ENST00000448854,;MRPL28,upstream_gene_variant,,ENST00000429738,;MRPL28,upstream_gene_variant,,ENST00000389675,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000199706,;TMEM8A,downstream_gene_variant,,ENST00000427313,;MRPL28,upstream_gene_variant,,ENST00000483764,;TMEM8A,downstream_gene_variant,,ENST00000467452,;MRPL28,upstream_gene_variant,,ENST00000469744,;MRPL28,upstream_gene_variant,,ENST00000481453,;TMEM8A,downstream_gene_variant,,ENST00000475348,;MRPL28,upstream_gene_variant,,ENST00000461550,;	2375	71	61	SUCCESS
ESRP2	80004	.	GRCh37	16	68265386	68265401	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGCTGGTTGAGCACCA	TGCTGGTTGAGCACCA	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	TGCTGGTTGAGCACCA	TGCTGGTTGAGCACCA	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	88	0	ENST00000565858.1:c.1526_1541del	p.Met509ArgfsTer12	p.M509Rfs*12	ENST00000565858	NM_024939.2	509	aTGGTGCTCAACCAGCAg/ag	0	.	.	.	.	.	-	MVLNQQ/X	protein_coding	YES	CCDS10863.1	1496-1511	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCACCTGCTGGTTGAGCACCATGTGT	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000418748	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000473183	Transcript	.	.	ENSG00000103067	26152	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ESRP2_HUMAN	ESRP2	HGNC	J3QQJ9_HUMAN,J3KRF2_HUMAN	.	UPI000006FB08	deletion	ESRP2,frameshift_variant,p.Met499ArgfsTer12,ENST00000473183,;ESRP2,frameshift_variant,p.Met509ArgfsTer12,ENST00000565858,;NFATC3,downstream_gene_variant,,ENST00000346183,;ESRP2,downstream_gene_variant,,ENST00000562724,;NFATC3,downstream_gene_variant,,ENST00000329524,;NFATC3,downstream_gene_variant,,ENST00000349223,;ESRP2,downstream_gene_variant,,ENST00000564382,;NFATC3,downstream_gene_variant,,ENST00000562926,;RP11-96D1.10,downstream_gene_variant,,ENST00000571975,;RP11-96D1.11,upstream_gene_variant,,ENST00000571197,;NFATC3,downstream_gene_variant,,ENST00000566301,;NFATC3,downstream_gene_variant,,ENST00000563288,;NFATC3,downstream_gene_variant,,ENST00000563796,;NFATC3,downstream_gene_variant,,ENST00000563319,;NFATC3,downstream_gene_variant,,ENST00000535127,;ESRP2,splice_region_variant,,ENST00000566774,;ESRP2,splice_region_variant,,ENST00000251366,;ESRP2,downstream_gene_variant,,ENST00000562567,;ESRP2,downstream_gene_variant,,ENST00000564465,;ESRP2,downstream_gene_variant,,ENST00000563159,;ESRP2,downstream_gene_variant,,ENST00000569964,;ESRP2,downstream_gene_variant,,ENST00000565213,;ESRP2,downstream_gene_variant,,ENST00000562738,;	2035-2050	88	73	SUCCESS
GAS7	8522	.	GRCh37	17	10101808	10101808	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	14	0	ENST00000432992.2:c.-101G>A		p.*34*	ENST00000432992	NM_201433.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11152.1	.	RADIA|MUTECT|MUSE	.	GGGCTCCCGCG	NONE	.	.	.	.	.	ENSP00000407552	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000432992	Transcript	.	.	ENSG00000007237	4169	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GAS7_HUMAN	GAS7	HGNC	J3QS26_HUMAN,J3QLH8_HUMAN,J3KTK6_HUMAN,J3KTB1_HUMAN,J3KS47_HUMAN,B7Z1Q2_HUMAN	.	UPI00001B4B17	SNV	GAS7,5_prime_UTR_variant,,ENST00000432992,;GAS7,5_prime_UTR_variant,,ENST00000540214,;	61	14	12	SUCCESS
MYO1C	4641	.	GRCh37	17	1378257	1378257	+	synonymous_variant	Silent	SNP	C	C	A	rs551011507	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	45	94	0	ENST00000359786.5:c.1644G>T	p.Ala548=	p.A548=	ENST00000359786	NM_001080779.1	548	gcG/gcT	0	.	T:0.0015	.	T:0	.	A	A	protein_coding	YES	CCDS42226.1	1644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCGCATA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF255,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	T:0	.	ENSP00000352834	T:0	15/32	.	.	.	.	.	.	.	.	rs551011507,COSM3387718,COSM3387717	15/32	PASS	ENST00000359786	Transcript	.	T:0.0004	ENSG00000197879	7597	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0	.	0,1,1	MYO1C_HUMAN	MYO1C	HGNC	I3L4D4_HUMAN,I3L3Y6_HUMAN,I3L3F5_HUMAN,I3L204_HUMAN,I3L168_HUMAN	.	UPI0000200579	SNV	MYO1C,synonymous_variant,p.%3D,ENST00000545534,;MYO1C,synonymous_variant,p.%3D,ENST00000438665,;MYO1C,synonymous_variant,p.%3D,ENST00000361007,;MYO1C,synonymous_variant,p.%3D,ENST00000575158,;MYO1C,synonymous_variant,p.%3D,ENST00000359786,;MYO1C,downstream_gene_variant,,ENST00000571851,;MYO1C,downstream_gene_variant,,ENST00000573198,;MYO1C,upstream_gene_variant,,ENST00000575011,;MYO1C,downstream_gene_variant,,ENST00000573961,;MYO1C,upstream_gene_variant,,ENST00000572615,;MYO1C,upstream_gene_variant,,ENST00000571615,;MYO1C,upstream_gene_variant,,ENST00000575864,;MYO1C,upstream_gene_variant,,ENST00000574308,;	1969	94	115	SUCCESS
SUPT6H	6830	.	GRCh37	17	27028455	27028455	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	30	67	0	ENST00000314616.6:c.4995-2A>G		p.X1665_splice	ENST00000314616	NM_003170.3	1665		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32596.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGGTCC	NONE	.	.	.	.	.	ENSP00000319104	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	HIGH	36/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,splice_acceptor_variant,,ENST00000314616,;SUPT6H,splice_acceptor_variant,,ENST00000347486,;PROCA1,downstream_gene_variant,,ENST00000581289,;PROCA1,downstream_gene_variant,,ENST00000301039,;PROCA1,downstream_gene_variant,,ENST00000439862,;PROCA1,downstream_gene_variant,,ENST00000415329,;PROCA1,downstream_gene_variant,,ENST00000422880,;PROCA1,downstream_gene_variant,,ENST00000584073,;PROCA1,downstream_gene_variant,,ENST00000579650,;PROCA1,downstream_gene_variant,,ENST00000578097,;SUPT6H,splice_acceptor_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000583340,;PROCA1,downstream_gene_variant,,ENST00000495203,;SUPT6H,downstream_gene_variant,,ENST00000580471,;PROCA1,downstream_gene_variant,,ENST00000473751,;	.	67	61	SUCCESS
PNMT	5409	.	GRCh37	17	37824630	37824630	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	15	0	ENST00000269582.2:c.-99C>A		p.*33*	ENST00000269582	NM_002686.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11343.1	.	RADIA|MUTECT|MUSE	.	GCGGTCAGCTG	NONE	.	.	.	.	.	ENSP00000269582	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000269582	Transcript	.	.	ENSG00000141744	9160	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PNMT_HUMAN	PNMT	HGNC	J3QRI3_HUMAN,A8MT87_HUMAN	.	UPI0000111BE4	SNV	PNMT,5_prime_UTR_variant,,ENST00000269582,;PNMT,intron_variant,,ENST00000394246,;TCAP,downstream_gene_variant,,ENST00000578283,;STARD3,downstream_gene_variant,,ENST00000336308,;STARD3,downstream_gene_variant,,ENST00000394250,;STARD3,downstream_gene_variant,,ENST00000580611,;PGAP3,downstream_gene_variant,,ENST00000429199,;PGAP3,downstream_gene_variant,,ENST00000579146,;PGAP3,downstream_gene_variant,,ENST00000300658,;PNMT,upstream_gene_variant,,ENST00000581428,;TCAP,downstream_gene_variant,,ENST00000309889,;PGAP3,downstream_gene_variant,,ENST00000378011,;STARD3,downstream_gene_variant,,ENST00000584850,;STARD3,downstream_gene_variant,,ENST00000481171,;STARD3,downstream_gene_variant,,ENST00000488876,;PGAP3,downstream_gene_variant,,ENST00000577337,;STARD3,downstream_gene_variant,,ENST00000585269,;STARD3,downstream_gene_variant,,ENST00000471896,;PGAP3,downstream_gene_variant,,ENST00000309862,;	220	15	13	SUCCESS
KRT16	3868	.	GRCh37	17	39766282	39766282	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1265840224	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	84	0	ENST00000301653.4:c.1328-1G>A		p.X443_splice	ENST00000301653	NM_005557.3	443		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11401.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACTGTGG	NONE	.	.	.	.	.	ENSP00000301653	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301653	Transcript	.	.	ENSG00000186832	6423	.	.	HIGH	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C16_HUMAN	KRT16	HGNC	K7ENW6_HUMAN,K7ENV3_HUMAN	.	UPI0000001C7B	SNV	KRT16,splice_acceptor_variant,,ENST00000301653,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000588319,;	.	84	73	SUCCESS
RUNDC1	146923	.	GRCh37	17	41143111	41143111	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	82	0	ENST00000361677.1:c.1220C>T	p.Thr407Ile	p.T407I	ENST00000361677	NM_173079.2	407	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS11448.1	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACCTCTG	NONE	.	.	.	.	.	ENSP00000354622	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361677	Transcript	.	.	ENSG00000198863	25418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	tolerated(0.16)	.	RUND1_HUMAN	RUNDC1	HGNC	.	.	UPI00001AED0E	SNV	RUNDC1,missense_variant,p.Thr407Ile,ENST00000361677,;RUNDC1,downstream_gene_variant,,ENST00000589705,;	1232	83	63	SUCCESS
USP43	124739	.	GRCh37	17	9604706	9604706	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	72	0	ENST00000285199.7:c.1700A>T	p.Gln567Leu	p.Q567L	ENST00000285199	NM_001267576.1	567	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45610.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAAGTCC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF408,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000285199	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000285199	Transcript	.	.	ENSG00000154914	20072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	deleterious(0)	.	UBP43_HUMAN	USP43	HGNC	.	.	UPI0000047AFB	SNV	USP43,missense_variant,p.Gln354Leu,ENST00000574408,;USP43,missense_variant,p.Gln567Leu,ENST00000570475,;USP43,missense_variant,p.Gln567Leu,ENST00000285199,;USP43,missense_variant,p.Gln92Leu,ENST00000573955,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,;	1796	72	54	SUCCESS
CTAGE1	64693	.	GRCh37	18	19997418	19997418	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	131	0	ENST00000391403.2:c.357A>T	p.Glu119Asp	p.E119D	ENST00000391403	NM_172241.2	119	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS45837.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTTCTAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF41	.	.	ENSP00000375220	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391403	Transcript	.	.	ENSG00000212710	24346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	CTGE2_HUMAN	CTAGE1	HGNC	Q8NEG8_HUMAN	.	UPI00000721F4	SNV	CTAGE1,missense_variant,p.Glu119Asp,ENST00000391403,;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;	461	131	95	SUCCESS
LIPG	9388	.	GRCh37	18	47101852	47101852	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	86	0	ENST00000261292.4:c.685A>T	p.Ser229Cys	p.S229C	ENST00000261292	NM_006033.2	229	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS11938.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGAGCATT	NONE	.	.	Prints_domain:PR00822,Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610	.	.	ENSP00000261292	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000261292	Transcript	.	.	ENSG00000101670	6623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LIPE_HUMAN	LIPG	HGNC	J3KTN7_HUMAN	.	UPI000012E706	SNV	LIPG,missense_variant,p.Ser229Cys,ENST00000261292,;LIPG,missense_variant,p.Ser265Cys,ENST00000577628,;LIPG,missense_variant,p.Ser229Cys,ENST00000580036,;LIPG,intron_variant,,ENST00000427224,;	963	86	84	SUCCESS
CCDC68	80323	.	GRCh37	18	52604137	52604137	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	114	0	ENST00000337363.4:c.398G>A	p.Arg133Lys	p.R133K	ENST00000337363	NM_001143829.1	133	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS11959.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATCTCTGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF3	.	.	ENSP00000466690	.	6/12	.	.	.	.	.	.	.	.	COSM1711390	6/12	PASS	ENST00000591504	Transcript	.	.	ENSG00000166510	24350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	tolerated(0.6)	1	CCD68_HUMAN	CCDC68	HGNC	.	.	UPI00000435F1	SNV	CCDC68,missense_variant,p.Arg133Lys,ENST00000591504,;CCDC68,missense_variant,p.Arg133Lys,ENST00000432185,;CCDC68,missense_variant,p.Arg133Lys,ENST00000337363,;CCDC68,upstream_gene_variant,,ENST00000592040,;CCDC68,non_coding_transcript_exon_variant,,ENST00000592294,;CCDC68,downstream_gene_variant,,ENST00000589136,;CCDC68,downstream_gene_variant,,ENST00000587148,;	673	114	82	SUCCESS
SMARCA4	6597	.	GRCh37	19	11143970	11143970	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	53	137	0	ENST00000344626.4:c.3551T>C	p.Leu1184Pro	p.L1184P	ENST00000344626	NM_003072.3	1184	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS12253.1	3551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTGCAAG	BUFFER|p.A1186V|c.3557C>T|3	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51194	.	.	ENSP00000395654	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Leu1184Pro,ENST00000450717,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000358026,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000413806,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000444061,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000541122,;SMARCA4,missense_variant,p.Leu29Pro,ENST00000592158,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000590574,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000344626,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000589677,;SMARCA4,missense_variant,p.Leu1184Pro,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586892,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,downstream_gene_variant,,ENST00000591545,;	3832	137	123	SUCCESS
TMEM205	374882	.	GRCh37	19	11456341	11456341	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	66	0	ENST00000354882.5:c.-46A>G		p.*16*	ENST00000354882				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32909.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTTTGCC	NONE	.	.	.	.	.	ENSP00000346954	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000354882	Transcript	.	.	ENSG00000105518	29631	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM205_HUMAN	TMEM205	HGNC	K7ER05_HUMAN,K7EPR0_HUMAN,K7EM09_HUMAN,K7ELQ9_HUMAN,K7EJQ9_HUMAN	.	UPI0000048ED7	SNV	TMEM205,5_prime_UTR_variant,,ENST00000586956,;TMEM205,5_prime_UTR_variant,,ENST00000588560,;TMEM205,5_prime_UTR_variant,,ENST00000354882,;TMEM205,5_prime_UTR_variant,,ENST00000589555,;TMEM205,intron_variant,,ENST00000590482,;TMEM205,intron_variant,,ENST00000586218,;TMEM205,intron_variant,,ENST00000587948,;TMEM205,intron_variant,,ENST00000592952,;TMEM205,intron_variant,,ENST00000447337,;CCDC159,intron_variant,,ENST00000588790,;TMEM205,intron_variant,,ENST00000591677,;TMEM205,intron_variant,,ENST00000590788,;TMEM205,intron_variant,,ENST00000586590,;TMEM205,intron_variant,,ENST00000586701,;TMEM205,intron_variant,,ENST00000593256,;RAB3D,intron_variant,,ENST00000589655,;CCDC159,upstream_gene_variant,,ENST00000591260,;CCDC159,upstream_gene_variant,,ENST00000586451,;CCDC159,upstream_gene_variant,,ENST00000458408,;CCDC159,upstream_gene_variant,,ENST00000588592,;CCDC159,upstream_gene_variant,,ENST00000587531,;CCDC159,intron_variant,,ENST00000587100,;CCDC159,intron_variant,,ENST00000589186,;TMEM205,non_coding_transcript_exon_variant,,ENST00000585722,;TMEM205,non_coding_transcript_exon_variant,,ENST00000588321,;CCDC159,upstream_gene_variant,,ENST00000592723,;CCDC159,upstream_gene_variant,,ENST00000589477,;CCDC159,upstream_gene_variant,,ENST00000590636,;CCDC159,upstream_gene_variant,,ENST00000590919,;CCDC159,upstream_gene_variant,,ENST00000589016,;CCDC159,upstream_gene_variant,,ENST00000590054,;CCDC159,upstream_gene_variant,,ENST00000588821,;	382	66	53	SUCCESS
ZNF627	199692	.	GRCh37	19	11728647	11728656	+	frameshift_variant	Frame_Shift_Del	DEL	AGAGAAACCC	AGAGAAACCC	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	AGAGAAACCC	AGAGAAACCC	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	27	0	ENST00000361113.5:c.1329_1338del	p.Glu444MetfsTer88	p.E444Mfs*88	ENST00000361113	NM_145295.3	443	ggAGAGAAACCC/gg	0	.	.	.	.	.	-	GEKP/X	protein_coding	YES	CCDS42502.1	1329-1338	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTGGAGAGAAACCCTATGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000354414	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361113	Transcript	.	.	ENSG00000198551	30570	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN627_HUMAN	ZNF627	HGNC	K7ELG4_HUMAN	.	UPI0000071491	deletion	ZNF627,frameshift_variant,p.Glu444MetfsTer88,ENST00000361113,;ZNF627,3_prime_UTR_variant,,ENST00000588174,;ZNF627,downstream_gene_variant,,ENST00000587939,;ZNF627,downstream_gene_variant,,ENST00000585493,;	1537-1546	27	25	SUCCESS
MYO9B	4650	.	GRCh37	19	17321609	17321609	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373618149	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	35	92	0	ENST00000594824.1:c.5882G>A	p.Arg1961Gln	p.R1961Q	ENST00000594824		1961	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS46010.1	5882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGGGAAA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306	.	A:0	ENSP00000471457	.	38/40	.	.	.	.	.	.	.	.	rs373618149	38/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.48)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Arg1961Gln,ENST00000595618,;MYO9B,missense_variant,p.Arg1961Gln,ENST00000594824,;MYO9B,missense_variant,p.Arg134Gln,ENST00000597073,;MYO9B,missense_variant,p.Arg1961Gln,ENST00000397274,;MYO9B,missense_variant,p.Arg1945Gln,ENST00000595641,;MYO9B,missense_variant,p.Arg147Gln,ENST00000596942,;MYO9B,missense_variant,p.Arg97Gln,ENST00000598419,;USE1,upstream_gene_variant,,ENST00000379776,;USE1,upstream_gene_variant,,ENST00000593597,;USE1,upstream_gene_variant,,ENST00000595101,;USE1,upstream_gene_variant,,ENST00000596136,;USE1,upstream_gene_variant,,ENST00000263897,;USE1,upstream_gene_variant,,ENST00000445667,;CTD-3032J10.3,upstream_gene_variant,,ENST00000601929,;MYO9B,non_coding_transcript_exon_variant,,ENST00000597881,;MYO9B,non_coding_transcript_exon_variant,,ENST00000597572,;USE1,upstream_gene_variant,,ENST00000594724,;MYO9B,downstream_gene_variant,,ENST00000602158,;MYO9B,downstream_gene_variant,,ENST00000593533,;MYO9B,downstream_gene_variant,,ENST00000599420,;USE1,upstream_gene_variant,,ENST00000600970,;USE1,upstream_gene_variant,,ENST00000601662,;USE1,upstream_gene_variant,,ENST00000601592,;	6034	92	78	SUCCESS
ZNF99	7652	.	GRCh37	19	22940876	22940876	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	79	163	0	ENST00000596209.1:c.1835A>T	p.Gln612Leu	p.Q612L	ENST00000596209	NM_001080409.2	612	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS59369.1	1835	RADIA|MUTECT|MUSE	.	TTATCTGATGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.074)	.	tolerated(0.06)	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Gln521Leu,ENST00000397104,;ZNF99,missense_variant,p.Gln612Leu,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	1926	163	172	SUCCESS
WDR88	126248	.	GRCh37	19	33623009	33623009	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	22	0	ENST00000355868.3:c.-67C>T		p.*23*	ENST00000355868	NM_173479.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12429.1	.	MUTECT|MUSE	.	GCGGGCGCGGG	NONE	.	.	.	.	.	ENSP00000348129	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000355868	Transcript	.	.	ENSG00000166359	26999	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR88_HUMAN	WDR88	HGNC	.	.	UPI0000456C8B	SNV	WDR88,5_prime_UTR_variant,,ENST00000355868,;WDR88,5_prime_UTR_variant,,ENST00000592765,;WDR88,5_prime_UTR_variant,,ENST00000361680,;GPATCH1,downstream_gene_variant,,ENST00000170564,;GPATCH1,downstream_gene_variant,,ENST00000592262,;	10	22	20	SUCCESS
ZNF527	84503	.	GRCh37	19	37880756	37880756	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202094634	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	64	0	ENST00000436120.2:c.1805G>T	p.Arg602Ile	p.R602I	ENST00000436120	NM_032453.1	602	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS42559.1	1805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGAATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000390179	.	5/5	.	.	.	.	.	.	.	.	rs202094634	5/5	PASS	ENST00000436120	Transcript	.	.	ENSG00000189164	29385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0)	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,missense_variant,p.Arg602Ile,ENST00000436120,;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,downstream_gene_variant,,ENST00000588512,;	1912	64	49	SUCCESS
RYR1	6261	.	GRCh37	19	38956904	38956904	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1202647394	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	147	0	ENST00000359596.3:c.3044G>A	p.Arg1015His	p.R1015H	ENST00000359596		1015	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS33011.1	3044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGCCGAA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026,Prints_domain:PR00795	.	.	ENSP00000352608	.	24/106	.	.	.	.	.	.	.	.	COSM995996	24/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.971)	.	.	1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Arg1015His,ENST00000355481,;RYR1,missense_variant,p.Arg1015His,ENST00000360985,;RYR1,missense_variant,p.Arg1015His,ENST00000359596,;RYR1,non_coding_transcript_exon_variant,,ENST00000594111,;	3044	147	119	SUCCESS
PLD3	23646	.	GRCh37	19	40872350	40872350	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	74	0	ENST00000356508.5:c.-41T>G		p.*14*	ENST00000356508	NM_001031696.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33027.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTTCTCA	NONE	.	.	.	.	.	ENSP00000387050	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000409587	Transcript	.	.	ENSG00000105223	17158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLD3_HUMAN	PLD3	HGNC	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN	.	UPI000004FA75	SNV	PLD3,5_prime_UTR_variant,,ENST00000598962,;PLD3,5_prime_UTR_variant,,ENST00000594908,;PLD3,5_prime_UTR_variant,,ENST00000602131,;PLD3,5_prime_UTR_variant,,ENST00000409419,;PLD3,5_prime_UTR_variant,,ENST00000359274,;PLD3,5_prime_UTR_variant,,ENST00000409587,;PLD3,5_prime_UTR_variant,,ENST00000409735,;PLD3,5_prime_UTR_variant,,ENST00000599685,;PLD3,5_prime_UTR_variant,,ENST00000409281,;PLD3,5_prime_UTR_variant,,ENST00000392032,;PLD3,5_prime_UTR_variant,,ENST00000600948,;PLD3,5_prime_UTR_variant,,ENST00000596682,;PLD3,5_prime_UTR_variant,,ENST00000356508,;PLD3,upstream_gene_variant,,ENST00000599353,;PLD3,non_coding_transcript_exon_variant,,ENST00000600479,;PLD3,non_coding_transcript_exon_variant,,ENST00000594085,;PLD3,non_coding_transcript_exon_variant,,ENST00000493006,;PLD3,non_coding_transcript_exon_variant,,ENST00000485448,;PLD3,non_coding_transcript_exon_variant,,ENST00000464586,;PLD3,upstream_gene_variant,,ENST00000492243,;PLD3,upstream_gene_variant,,ENST00000480030,;	357	74	95	SUCCESS
BCL3	602	.	GRCh37	19	45260629	45260629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746104910	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	47	165	0	ENST00000164227.5:c.770C>T	p.Thr257Ile	p.T257I	ENST00000164227	NM_005178.4	257	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS12642.2	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACCGTGC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24118:SF44,hmmpanther:PTHR24118,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000164227	.	5/9	.	.	.	.	.	.	.	.	rs746104910	5/9	PASS	ENST00000164227	Transcript	.	.	ENSG00000069399	998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.53)	.	BCL3_HUMAN	BCL3	HGNC	.	.	UPI0000D4AF29	SNV	BCL3,missense_variant,p.Thr257Ile,ENST00000164227,;BCL3,missense_variant,p.Thr141Ile,ENST00000444487,;BCL3,downstream_gene_variant,,ENST00000473468,;BCL3,non_coding_transcript_exon_variant,,ENST00000403534,;BCL3,downstream_gene_variant,,ENST00000464319,;BCL3,upstream_gene_variant,,ENST00000473473,;BCL3,upstream_gene_variant,,ENST00000474300,;BCL3,upstream_gene_variant,,ENST00000477832,;	1014	165	122	SUCCESS
HAS1	3036	.	GRCh37	19	52216886	52216886	+	synonymous_variant	Silent	SNP	G	G	A	rs751858625	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	108	0	ENST00000222115.1:c.1531C>T	p.Leu511=	p.L511=	ENST00000222115	NM_001523.2	511	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12838.1	1531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCGCCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4	.	.	ENSP00000222115	.	5/5	.	.	.	.	.	.	.	.	rs751858625	5/5	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,synonymous_variant,p.%3D,ENST00000540069,;HAS1,synonymous_variant,p.%3D,ENST00000222115,;HAS1,synonymous_variant,p.%3D,ENST00000601714,;HAS1,downstream_gene_variant,,ENST00000594621,;HAS1,downstream_gene_variant,,ENST00000601667,;SPACA6P,downstream_gene_variant,,ENST00000573896,;	1566	108	104	SUCCESS
ZNF880	400713	.	GRCh37	19	52888566	52888566	+	stop_retained_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	8	164	0	ENST00000422689.2:c.1733G>A	p.Ter578=	p.*578=	ENST00000422689	NM_001145434.1	578	tGa/tAa	0	.	.	.	.	.	A	*	protein_coding	YES	CCDS46164.1	1733	MUTECT|MUSE	.	CAGATGAAATG	NONE	.	.	.	.	.	ENSP00000406318	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,stop_retained_variant,p.%3D,ENST00000422689,;ZNF880,downstream_gene_variant,,ENST00000424032,;CTD-3018O17.3,downstream_gene_variant,,ENST00000601562,;CTD-3018O17.3,downstream_gene_variant,,ENST00000594119,;	1748	164	152	SUCCESS
ZNF578	147660	.	GRCh37	19	53014279	53014279	+	synonymous_variant	Silent	SNP	A	A	T	rs753542790	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	110	281	0	ENST00000421239.2:c.645A>T	p.Ser215=	p.S215=	ENST00000421239	NM_001099694.1	215	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54310.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCATCATT	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	rs753542790	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,synonymous_variant,p.%3D,ENST00000421239,;ZNF578,synonymous_variant,p.%3D,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	889	281	293	SUCCESS
ZNF347	84671	.	GRCh37	19	53644667	53644667	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	104	0	ENST00000334197.7:c.1414C>T	p.Leu472Phe	p.L472F	ENST00000334197	NM_032584.2	472	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS54314.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAGGTGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000405218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0.03)	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,missense_variant,p.Leu473Phe,ENST00000601469,;ZNF347,missense_variant,p.Leu472Phe,ENST00000334197,;ZNF347,missense_variant,p.Leu473Phe,ENST00000452676,;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000597183,;ZNF347,downstream_gene_variant,,ENST00000595967,;	1844	104	104	SUCCESS
KIR3DL1	3811	.	GRCh37	19	55329855	55329855	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	12	21	0	ENST00000391728.4:c.156T>C	p.Arg52=	p.R52=	ENST00000391728	NM_013289.2	52	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS42621.1	156	MUTECT|MUSE	.	TATCGTCATAG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000375608	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000391728	Transcript	.	.	ENSG00000167633	6338	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI3L1_HUMAN	KIR3DL1	HGNC	Q5UCE2_HUMAN,Q8NHL0_HUMAN	.	UPI000012DB24	SNV	KIR3DL1,synonymous_variant,p.%3D,ENST00000541392,;KIR3DL1,synonymous_variant,p.%3D,ENST00000538269,;KIR3DL1,synonymous_variant,p.%3D,ENST00000326542,;KIR3DL1,synonymous_variant,p.%3D,ENST00000402254,;KIR3DL1,synonymous_variant,p.%3D,ENST00000391728,;KIR3DL1,intron_variant,,ENST00000358178,;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000345540,;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000359085,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,;	189	21	15	SUCCESS
SAFB2	9667	.	GRCh37	19	5594100	5594100	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs747436889	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	82	0	ENST00000252542.4:c.2009T>G	p.Leu670Arg	p.L670R	ENST00000252542	NM_014649.2	670	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS32879.1	2009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4	.	.	ENSP00000252542	.	15/21	.	.	.	.	.	.	.	.	rs747436889	15/21	PASS	ENST00000252542	Transcript	.	.	ENSG00000130254	21605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0.02)	.	SAFB2_HUMAN	SAFB2	HGNC	.	.	UPI0000071DB7	SNV	SAFB2,missense_variant,p.Leu670Arg,ENST00000252542,;SAFB2,upstream_gene_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000591123,;SAFB2,upstream_gene_variant,,ENST00000590000,;SAFB2,downstream_gene_variant,,ENST00000585449,;	2274	82	64	SUCCESS
VPS13D	55187	.	GRCh37	1	12321087	12321087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	5	107	0	ENST00000358136.3:c.1295A>G	p.Tyr432Cys	p.Y432C	ENST00000358136	NM_015378.2	432	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS30588.1	1295	MUTECT|MUSE	.	GCAGTATCTCC	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	12/70	.	.	.	.	.	.	.	.	.	12/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.299)	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,missense_variant,p.Tyr432Cys,ENST00000358136,;VPS13D,missense_variant,p.Tyr432Cys,ENST00000356315,;VPS13D,downstream_gene_variant,,ENST00000489961,;	1425	107	139	SUCCESS
UBAP2L	9898	.	GRCh37	1	154226506	154226506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	48	110	0	ENST00000361546.2:c.1795A>T	p.Thr599Ser	p.T599S	ENST00000361546		599	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS1063.1	1795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGACTCGG	NONE	.	.	hmmpanther:PTHR16308:SF18,hmmpanther:PTHR16308	.	.	ENSP00000389445	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.61)	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,missense_variant,p.Thr599Ser,ENST00000361546,;UBAP2L,missense_variant,p.Thr610Ser,ENST00000271877,;UBAP2L,missense_variant,p.Thr599Ser,ENST00000343815,;UBAP2L,missense_variant,p.Thr599Ser,ENST00000428931,;UBAP2L,upstream_gene_variant,,ENST00000433615,;UBAP2L,upstream_gene_variant,,ENST00000428595,;AL590431.1,upstream_gene_variant,,ENST00000517008,;UBAP2L,upstream_gene_variant,,ENST00000484696,;UBAP2L,downstream_gene_variant,,ENST00000466173,;UBAP2L,upstream_gene_variant,,ENST00000495676,;UBAP2L,upstream_gene_variant,,ENST00000489076,;UBAP2L,upstream_gene_variant,,ENST00000465855,;	1962	110	101	SUCCESS
INSRR	3645	.	GRCh37	1	156816468	156816468	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	43	110	0	ENST00000368195.3:c.1653C>G	p.Pro551=	p.P551=	ENST00000368195	NM_014215.2	551	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS1160.1	1653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGGGGCAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265	.	.	ENSP00000357178	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,synonymous_variant,p.%3D,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	2050	110	114	SUCCESS
FMO3	2328	.	GRCh37	1	171076962	171076962	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	43	152	0	ENST00000367755.4:c.471del	p.Glu158SerfsTer6	p.E158Sfs*6	ENST00000367755	NM_001002294.2	156	ccA/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS1292.1	468	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTACCAAAAGA	NONE	.	.	hmmpanther:PTHR23023:SF44,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000332,Superfamily_domains:SSF51905,Prints_domain:PR00370	.	.	ENSP00000356729	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000367755	Transcript	.	.	ENSG00000007933	3771	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FMO3_HUMAN	FMO3	HGNC	.	.	UPI000016A103	deletion	FMO3,splice_donor_variant,,ENST00000479749,;FMO3,frameshift_variant,p.Glu158SerfsTer6,ENST00000367755,;FMO3,frameshift_variant,p.Glu95SerfsTer6,ENST00000538429,;FMO3,frameshift_variant,p.Glu138SerfsTer6,ENST00000542847,;FMO3,frameshift_variant,p.Glu158SerfsTer6,ENST00000392085,;FMO3,downstream_gene_variant,,ENST00000478457,;FMO3,downstream_gene_variant,,ENST00000472784,;	579	152	182	SUCCESS
ATP13A2	23400	.	GRCh37	1	17318784	17318784	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	56	92	0	ENST00000326735.8:c.1959C>A	p.Val653=	p.V653=	ENST00000326735		653	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS175.1	1959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGACGTA	NONE	.	.	hmmpanther:PTHR24093:SF86,hmmpanther:PTHR24093,Gene3D:3.40.1110.10,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF81660	.	.	ENSP00000327214	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000326735	Transcript	.	.	ENSG00000159363	30213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT132_HUMAN	ATP13A2	HGNC	Q8N4D4_HUMAN	.	UPI0000049724	SNV	ATP13A2,synonymous_variant,p.%3D,ENST00000503552,;ATP13A2,synonymous_variant,p.%3D,ENST00000452699,;ATP13A2,synonymous_variant,p.%3D,ENST00000341676,;ATP13A2,synonymous_variant,p.%3D,ENST00000326735,;ATP13A2,upstream_gene_variant,,ENST00000502418,;ATP13A2,downstream_gene_variant,,ENST00000506174,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,downstream_gene_variant,,ENST00000502860,;ATP13A2,downstream_gene_variant,,ENST00000463860,;ATP13A2,upstream_gene_variant,,ENST00000466561,;ATP13A2,downstream_gene_variant,,ENST00000509392,;	1993	92	79	SUCCESS
PRDX6	9588	.	GRCh37	1	173455515	173455515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	58	138	0	ENST00000340385.5:c.521G>A	p.Arg174Lys	p.R174K	ENST00000340385	NM_004905.2	174	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS1307.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGGTTG	NONE	.	.	hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF77,Gene3D:2v2gD02,Pfam_domain:PF10417,PIRSF_domain:PIRSF000239,Superfamily_domains:SSF52833	.	.	ENSP00000342026	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000340385	Transcript	.	.	ENSG00000117592	16753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PRDX6_HUMAN	PRDX6	HGNC	.	.	UPI0000001C4B	SNV	PRDX6,missense_variant,p.Arg174Lys,ENST00000340385,;PRDX6,non_coding_transcript_exon_variant,,ENST00000470017,;PRDX6,downstream_gene_variant,,ENST00000460950,;	653	138	145	SUCCESS
LEMD1	93273	.	GRCh37	1	205388368	205388368	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	86	0	ENST00000367151.2:c.82+1215T>C		p.*28*	ENST00000367151	NM_001199051.1	65		0	.	.	.	.	.	G	D	protein_coding	YES	CCDS55679.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCATCACT	NONE	.	.	hmmpanther:PTHR12019:SF2,hmmpanther:PTHR12019	.	.	ENSP00000356121	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000367153	Transcript	.	.	ENSG00000186007	18725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEMD1_HUMAN	LEMD1	HGNC	.	.	UPI00001D7D3A	SNV	LEMD1,synonymous_variant,p.%3D,ENST00000367153,;LEMD1,synonymous_variant,p.%3D,ENST00000367154,;LEMD1,synonymous_variant,p.%3D,ENST00000391936,;LEMD1,intron_variant,,ENST00000367152,;LEMD1,intron_variant,,ENST00000367151,;LEMD1,intron_variant,,ENST00000367149,;LEMD1,intron_variant,,ENST00000495594,;LEMD1,intron_variant,,ENST00000476884,;	298	86	88	SUCCESS
MIA3	375056	.	GRCh37	1	222801611	222801611	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	104	262	0	ENST00000344922.5:c.1049A>G	p.Tyr350Cys	p.Y350C	ENST00000344922	NM_198551.2	350	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS41470.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATATCCAA	NONE	.	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	.	ENSP00000340900	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0.05)	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,missense_variant,p.Tyr350Cys,ENST00000344922,;MIA3,missense_variant,p.Tyr350Cys,ENST00000344507,;MIA3,missense_variant,p.Tyr350Cys,ENST00000344441,;MIA3,upstream_gene_variant,,ENST00000354906,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	1074	262	281	SUCCESS
KDM1A	23028	.	GRCh37	1	23409732	23409732	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	97	96	0	ENST00000356634.3:c.2434C>T	p.His812Tyr	p.H812Y	ENST00000356634	NM_015013.3	812	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS53278.1	2506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCATGGT	NONE	.	.	hmmpanther:PTHR10742:SF245,hmmpanther:PTHR10742,Pfam_domain:PF01593,PIRSF_domain:PIRSF038051,Superfamily_domains:SSF51905	.	.	ENSP00000383042	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000400181	Transcript	.	.	ENSG00000004487	29079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KDM1A_HUMAN	KDM1A	HGNC	.	.	UPI0000403137	SNV	KDM1A,missense_variant,p.His836Tyr,ENST00000542151,;KDM1A,missense_variant,p.His812Tyr,ENST00000356634,;KDM1A,missense_variant,p.His264Tyr,ENST00000494920,;KDM1A,missense_variant,p.His836Tyr,ENST00000400181,;LUZP1,downstream_gene_variant,,ENST00000374623,;KDM1A,downstream_gene_variant,,ENST00000465864,;LUZP1,downstream_gene_variant,,ENST00000418342,;LUZP1,downstream_gene_variant,,ENST00000302291,;RP1-184J9.2,intron_variant,,ENST00000427154,;KDM1A,non_coding_transcript_exon_variant,,ENST00000602503,;	2610	96	125	SUCCESS
ZMYM6	9204	.	GRCh37	1	35453298	35453298	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	351	21	451	0	ENST00000357182.4:c.3385A>C	p.Ser1129Arg	p.S1129R	ENST00000357182	NM_007167.3	1129	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS387.2	3385	MUTECT|MUSE	.	GAGACTTAAAT	NONE	.	.	hmmpanther:PTHR11697:SF92,hmmpanther:PTHR11697,Superfamily_domains:SSF53098	.	.	ENSP00000349708	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000357182	Transcript	.	.	ENSG00000163867	13050	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.35)	.	deleterious(0.01)	.	ZMYM6_HUMAN	ZMYM6	HGNC	Q7L9K1_HUMAN,A4Z946_HUMAN	.	UPI000040EBC6	SNV	ZMYM6,missense_variant,p.Ser1129Arg,ENST00000357182,;ZMYM6,intron_variant,,ENST00000373340,;ZMYM6NB,upstream_gene_variant,,ENST00000373337,;RP11-244H3.1,upstream_gene_variant,,ENST00000417456,;ZMYM6,non_coding_transcript_exon_variant,,ENST00000493328,;RP11-244H3.4,intron_variant,,ENST00000487874,;	3613	451	372	SUCCESS
GRIK3	2899	.	GRCh37	1	37282713	37282713	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	13	150	0	ENST00000373091.3:c.2039C>T	p.Thr680Ile	p.T680I	ENST00000373091	NM_000831.3	680	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS416.1	2039	MUTECT|MUSE|VARSCANS	.	TTTTGGTTTGC	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	.	.	ENSP00000362183	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000373091	Transcript	.	.	ENSG00000163873	4581	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	GRIK3_HUMAN	GRIK3	HGNC	Q96SC0_HUMAN	.	UPI000013E311	SNV	GRIK3,missense_variant,p.Thr680Ile,ENST00000373093,;GRIK3,missense_variant,p.Thr680Ile,ENST00000373091,;	2056	150	133	SUCCESS
EIF2B3	8891	.	GRCh37	1	45407298	45407298	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745869984	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	9	162	0	ENST00000360403.2:c.334G>A	p.Val112Ile	p.V112I	ENST00000360403	NM_020365.4	112	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS517.1	334	MUTECT|MUSE	.	GGCAACGTCTG	NONE	byFrequency	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF8,Pfam_domain:PF00483,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000353575	.	4/12	.	.	.	.	.	.	.	.	rs745869984,COSM1502895	4/12	PASS	ENST00000360403	Transcript	.	.	ENSG00000070785	3259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.065)	.	tolerated(0.13)	0,1	EI2BG_HUMAN	EIF2B3	HGNC	Q9HA31_HUMAN	.	UPI0000046983	SNV	EIF2B3,missense_variant,p.Val112Ile,ENST00000360403,;EIF2B3,missense_variant,p.Val112Ile,ENST00000372182,;EIF2B3,missense_variant,p.Val112Ile,ENST00000372183,;EIF2B3,non_coding_transcript_exon_variant,,ENST00000477953,;EIF2B3,non_coding_transcript_exon_variant,,ENST00000480675,;	461	162	161	SUCCESS
TACSTD2	4070	.	GRCh37	1	59043149	59043149	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	102	0	ENST00000371225.2:c.-321T>C		p.*107*	ENST00000371225	NM_002353.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS609.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTAGGCTT	NONE	.	.	.	.	.	ENSP00000360269	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371225	Transcript	.	.	ENSG00000184292	11530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TACD2_HUMAN	TACSTD2	HGNC	.	.	UPI000006EBAF	SNV	TACSTD2,5_prime_UTR_variant,,ENST00000371225,;	18	102	87	SUCCESS
PTGER3	5733	.	GRCh37	1	71512486	71512486	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	59	96	0	ENST00000306666.5:c.775C>T	p.Arg259Cys	p.R259C	ENST00000306666	NM_198719.1	259	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS655.1	775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGGGACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00582	.	.	ENSP00000349003	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,missense_variant,p.Arg259Cys,ENST00000370932,;PTGER3,missense_variant,p.Arg259Cys,ENST00000306666,;PTGER3,missense_variant,p.Arg259Cys,ENST00000351052,;PTGER3,missense_variant,p.Arg259Cys,ENST00000354608,;PTGER3,missense_variant,p.Arg259Cys,ENST00000356595,;PTGER3,missense_variant,p.Arg259Cys,ENST00000370924,;PTGER3,missense_variant,p.Arg259Cys,ENST00000460330,;PTGER3,missense_variant,p.Arg259Cys,ENST00000370931,;PTGER3,missense_variant,p.Arg259Cys,ENST00000414819,;ZRANB2-AS1,upstream_gene_variant,,ENST00000450461,;PTGER3,missense_variant,p.Arg259Cys,ENST00000361210,;PTGER3,missense_variant,p.Arg259Cys,ENST00000479353,;PTGER3,missense_variant,p.Arg259Cys,ENST00000497146,;	986	96	88	SUCCESS
TTLL7	79739	.	GRCh37	1	84417572	84417572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	9	184	0	ENST00000260505.8:c.113A>T	p.Lys38Met	p.K38M	ENST00000260505	NM_024686.4	38	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS690.2	113	MUTECT|MUSE	.	TTCCCTTCTTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF11,hmmpanther:PTHR12241	.	.	ENSP00000260505	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000260505	Transcript	.	.	ENSG00000137941	26242	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	TTLL7_HUMAN	TTLL7	HGNC	.	.	UPI000020391D	SNV	TTLL7,missense_variant,p.Lys38Met,ENST00000260505,;TTLL7,non_coding_transcript_exon_variant,,ENST00000477524,;TTLL7,non_coding_transcript_exon_variant,,ENST00000467670,;TTLL7,non_coding_transcript_exon_variant,,ENST00000488014,;TTLL7,intron_variant,,ENST00000482783,;TTLL7,upstream_gene_variant,,ENST00000472688,;TTLL7,missense_variant,p.Lys38Met,ENST00000480174,;TTLL7,intron_variant,,ENST00000474957,;TTLL7,upstream_gene_variant,,ENST00000485638,;	491	184	185	SUCCESS
C20orf96	140680	.	GRCh37	20	270284	270284	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	56	153	0	ENST00000360321.2:c.103A>G	p.Thr35Ala	p.T35A	ENST00000360321	NM_153269.2	35	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS12994.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTTTCCT	NONE	.	.	.	.	.	ENSP00000353470	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000360321	Transcript	.	.	ENSG00000196476	16227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.43)	.	CT096_HUMAN	C20orf96	HGNC	.	.	UPI00001285F1	SNV	C20orf96,missense_variant,p.Thr35Ala,ENST00000360321,;C20orf96,intron_variant,,ENST00000400269,;C20orf96,intron_variant,,ENST00000382369,;	242	153	128	SUCCESS
ZNF217	7764	.	GRCh37	20	52198237	52198237	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	118	0	ENST00000302342.3:c.1129T>A	p.Cys377Ser	p.C377S	ENST00000302342	NM_006526.2	377	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS13443.1	1129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCAGTGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000360526	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000371471	Transcript	.	.	ENSG00000171940	13009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN217_HUMAN	ZNF217	HGNC	A2A326_HUMAN	.	UPI000013C323	SNV	ZNF217,missense_variant,p.Cys377Ser,ENST00000302342,;ZNF217,missense_variant,p.Cys377Ser,ENST00000371471,;ZNF217,downstream_gene_variant,,ENST00000431687,;ZNF217,downstream_gene_variant,,ENST00000540425,;	1555	118	88	SUCCESS
SYCP2	10388	.	GRCh37	20	58496502	58496502	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	85	162	0	ENST00000357552.3:c.31G>T	p.Glu11Ter	p.E11*	ENST00000357552		11	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS13482.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCCAACT	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	4/45	.	.	.	.	.	.	.	.	.	4/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,stop_gained,p.Glu11Ter,ENST00000446834,;SYCP2,stop_gained,p.Glu11Ter,ENST00000357552,;SYCP2,stop_gained,p.Glu11Ter,ENST00000371001,;SYCP2,stop_gained,p.Glu10Ter,ENST00000425931,;SYCP2,non_coding_transcript_exon_variant,,ENST00000476314,;	257	162	197	SUCCESS
CDH26	60437	.	GRCh37	20	58533702	58533702	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	39	0	ENST00000348616.4:c.-80G>A		p.*27*	ENST00000348616	NM_177980.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13485.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGTGTGT	NONE	.	.	.	.	.	ENSP00000339390	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,5_prime_UTR_variant,,ENST00000244047,;CDH26,5_prime_UTR_variant,,ENST00000348616,;	221	39	22	SUCCESS
CDH26	60437	.	GRCh37	20	58569360	58569360	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	41	86	0	ENST00000348616.4:c.1482T>C	p.Asn494=	p.N494=	ENST00000348616	NM_177980.2	494	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS13485.1	1482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATGACAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000339390	.	11/18	.	.	.	.	.	.	.	.	COSM1412818,COSM1412819	11/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,synonymous_variant,p.%3D,ENST00000370991,;CDH26,synonymous_variant,p.%3D,ENST00000244047,;CDH26,synonymous_variant,p.%3D,ENST00000348616,;CDH26,upstream_gene_variant,,ENST00000456106,;CDH26,upstream_gene_variant,,ENST00000350849,;CDH26,upstream_gene_variant,,ENST00000244049,;CDH26,non_coding_transcript_exon_variant,,ENST00000497614,;	1782	86	86	SUCCESS
STMN3	50861	.	GRCh37	20	62273597	62273597	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	106	0	ENST00000370053.1:c.347A>G	p.Glu116Gly	p.E116G	ENST00000370053	NM_015894.3	116	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS13529.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTCGCGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51663,hmmpanther:PTHR10104:SF17,hmmpanther:PTHR10104,PROSITE_patterns:PS01041,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285,Superfamily_domains:0043535,Prints_domain:PR00345	.	.	ENSP00000359070	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000370053	Transcript	.	.	ENSG00000197457	15926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	deleterious(0)	.	STMN3_HUMAN	STMN3	HGNC	B7Z5G4_HUMAN	.	UPI000013611C	SNV	STMN3,missense_variant,p.Glu116Gly,ENST00000370053,;STMN3,missense_variant,p.Glu105Gly,ENST00000540534,;	429	106	81	SUCCESS
ICOSLG	23308	.	GRCh37	21	45655360	45655360	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	40	102	0	ENST00000407780.3:c.492C>T	p.Tyr164=	p.Y164=	ENST00000407780	NM_001283052.1	164	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS42952.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGTAGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF55,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000384432	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000407780	Transcript	.	.	ENSG00000160223	17087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICOSL_HUMAN	ICOSLG	HGNC	B7Z1W8_HUMAN,A0N0L8_HUMAN	.	UPI0000049DCB	SNV	ICOSLG,synonymous_variant,p.%3D,ENST00000407780,;ICOSLG,synonymous_variant,p.%3D,ENST00000344330,;ICOSLG,synonymous_variant,p.%3D,ENST00000400377,;ICOSLG,synonymous_variant,p.%3D,ENST00000400379,;	620	102	59	SUCCESS
POTEH	23784	.	GRCh37	22	16287870	16287870	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368142357	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	401	161	616	0	ENST00000343518.6:c.16G>A	p.Gly6Ser	p.G6S	ENST00000343518	NM_001136213.1	6	Ggt/Agt	0	T:0	.	.	.	.	T	G/S	protein_coding	YES	CCDS46658.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCAGCCT	NONE	byCluster	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	T:0.0001	ENSP00000340610	.	1/11	.	.	.	.	.	.	.	.	rs368142357	1/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(1)	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Gly6Ser,ENST00000343518,;POTEH,upstream_gene_variant,,ENST00000452800,;	68	616	563	SUCCESS
SLC25A17	10478	.	GRCh37	22	41215335	41215335	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	10	11	0	ENST00000435456.2:c.-83T>G		p.*28*	ENST00000435456	NM_006358.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14005.1	.	MUTECT|MUSE	.	AGCTCAGGGTG	NONE	.	.	.	.	.	ENSP00000390722	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000435456	Transcript	.	.	ENSG00000100372	10987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PM34_HUMAN	SLC25A17	HGNC	.	.	UPI0000049C3A	SNV	SLC25A17,5_prime_UTR_variant,,ENST00000435456,;SLC25A17,5_prime_UTR_variant,,ENST00000434185,;SLC25A17,upstream_gene_variant,,ENST00000544408,;SLC25A17,upstream_gene_variant,,ENST00000542412,;SLC25A17,non_coding_transcript_exon_variant,,ENST00000491545,;SLC25A17,5_prime_UTR_variant,,ENST00000447566,;SLC25A17,5_prime_UTR_variant,,ENST00000434193,;SLC25A17,5_prime_UTR_variant,,ENST00000449676,;SLC25A17,5_prime_UTR_variant,,ENST00000458600,;SLC25A17,5_prime_UTR_variant,,ENST00000427084,;SLC25A17,5_prime_UTR_variant,,ENST00000412879,;SLC25A17,5_prime_UTR_variant,,ENST00000443810,;SLC25A17,5_prime_UTR_variant,,ENST00000426396,;SLC25A17,upstream_gene_variant,,ENST00000420970,;SLC25A17,upstream_gene_variant,,ENST00000263255,;SLC25A17,upstream_gene_variant,,ENST00000430221,;	52	11	12	SUCCESS
REV1	51455	.	GRCh37	2	100050856	100050856	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	35	92	0	ENST00000258428.3:c.1376C>T	p.Pro459Leu	p.P459L	ENST00000258428	NM_001037872.1	459	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS2045.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGGACGT	NONE	.	.	PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF13,Pfam_domain:PF00817,PIRSF_domain:PIRSF036573	.	.	ENSP00000258428	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000258428	Transcript	.	.	ENSG00000135945	14060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	REV1_HUMAN	REV1	HGNC	.	.	UPI0000073A14	SNV	REV1,missense_variant,p.Pro97Leu,ENST00000450415,;REV1,missense_variant,p.Pro459Leu,ENST00000258428,;REV1,missense_variant,p.Pro459Leu,ENST00000393445,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,non_coding_transcript_exon_variant,,ENST00000486117,;REV1,downstream_gene_variant,,ENST00000482887,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,downstream_gene_variant,,ENST00000491752,;REV1,downstream_gene_variant,,ENST00000473819,;	1605	92	87	SUCCESS
RPL31	6160	.	GRCh37	2	101620868	101620868	+	intron_variant	Intron	SNP	A	A	G	rs397985322	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	16	0	ENST00000264258.3:c.233+123A>G		p.*78*	ENST00000264258	NM_000993.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46373.1	.	MUTECT|MUSE	.	AAAAAATACTG	NONE	.	.	.	.	.	ENSP00000386717	.	.	.	.	.	.	.	.	.	.	rs397985322	.	PASS	ENST00000409028	Transcript	.	.	ENSG00000071082	10334	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RL31_HUMAN	RPL31	HGNC	C9JU56_HUMAN	.	UPI0000EE6D67	SNV	RPL31,3_prime_UTR_variant,,ENST00000409000,;RPL31,3_prime_UTR_variant,,ENST00000409711,;RPL31,intron_variant,,ENST00000409320,;RPL31,intron_variant,,ENST00000409650,;RPL31,intron_variant,,ENST00000409028,;RPL31,intron_variant,,ENST00000456292,;RPL31,intron_variant,,ENST00000409733,;RPL31,intron_variant,,ENST00000409038,;RPL31,intron_variant,,ENST00000441435,;RPL31,intron_variant,,ENST00000264258,;TBC1D8,downstream_gene_variant,,ENST00000376840,;TBC1D8,downstream_gene_variant,,ENST00000409318,;AC016738.4,upstream_gene_variant,,ENST00000452364,;RPL31,intron_variant,,ENST00000419276,;	.	16	12	SUCCESS
MYO7B	4648	.	GRCh37	2	128366406	128366406	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	90	145	0	ENST00000409816.2:c.2767C>T	p.Pro923Ser	p.P923S	ENST00000409816		923	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46405.1	2767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCCTGCC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF352	.	.	ENSP00000415090	.	22/47	.	.	.	.	.	.	.	.	.	22/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,missense_variant,p.Pro923Ser,ENST00000389524,;MYO7B,missense_variant,p.Pro923Ser,ENST00000409816,;MYO7B,missense_variant,p.Pro923Ser,ENST00000428314,;MYO7B,upstream_gene_variant,,ENST00000563538,;	2820	145	193	SUCCESS
NXPH2	11249	.	GRCh37	2	139429158	139429158	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	51	104	0	ENST00000272641.3:c.129G>A	p.Leu43=	p.L43=	ENST00000272641	NM_007226.2	43	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46421.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACCAACGT	NONE	.	.	hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11,PIRSF_domain:PIRSF038019	.	.	ENSP00000272641	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000272641	Transcript	.	.	ENSG00000144227	8076	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXPH2_HUMAN	NXPH2	HGNC	.	.	UPI000023FCD4	SNV	NXPH2,synonymous_variant,p.%3D,ENST00000272641,;	236	104	131	SUCCESS
LRP1B	53353	.	GRCh37	2	141739748	141739748	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	91	0	ENST00000389484.3:c.2868A>T	p.Thr956=	p.T956=	ENST00000389484	NM_018557.2	956	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2182.1	2868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTGTCTG	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	18/91	.	.	.	.	.	.	.	.	.	18/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,synonymous_variant,p.%3D,ENST00000389484,;LRP1B,synonymous_variant,p.%3D,ENST00000434794,;	3840	91	77	SUCCESS
MBD5	55777	.	GRCh37	2	149267693	149267693	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	133	370	0	ENST00000407073.1:c.4402A>G	p.Met1468Val	p.M1468V	ENST00000407073	NM_018328.4	1468	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS33302.1	4402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAATGTCT	NONE	.	.	hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14,Superfamily_domains:SSF63748	.	.	ENSP00000386049	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.07)	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,missense_variant,p.Met1468Val,ENST00000407073,;MBD5,missense_variant,p.Met1701Val,ENST00000404807,;MBD5,missense_variant,p.Met1038Val,ENST00000416015,;MBD5,non_coding_transcript_exon_variant,,ENST00000496893,;	5399	370	341	SUCCESS
PXDN	7837	.	GRCh37	2	1642646	1642646	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	73	0	ENST00000252804.4:c.4178A>G	p.Gln1393Arg	p.Q1393R	ENST00000252804	NM_012293.1	1393	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS46221.1	4178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGCATT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000252804	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	deleterious(0.03)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Gln1393Arg,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,intron_variant,,ENST00000453308,;PXDN,upstream_gene_variant,,ENST00000493654,;	4229	73	66	SUCCESS
SCN1A	6323	.	GRCh37	2	166868648	166868648	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	97	308	0	ENST00000303395.4:c.3850T>A	p.Trp1284Arg	p.W1284R	ENST00000303395		1284	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS54413.1	3850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGGCAT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000303540	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Trp1256Arg,ENST00000409050,;SCN1A,missense_variant,p.Trp1284Arg,ENST00000423058,;SCN1A,missense_variant,p.Trp1284Arg,ENST00000303395,;SCN1A,missense_variant,p.Trp1273Arg,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,upstream_gene_variant,,ENST00000595268,;	3850	308	267	SUCCESS
UBR3	130507	.	GRCh37	2	170806382	170806382	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	130	238	0	ENST00000272793.5:c.3352T>G	p.Leu1118Val	p.L1118V	ENST00000272793		1118	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2238.2	3352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTTTAATC	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	.	.	ENSP00000396068	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000418381	Transcript	.	.	ENSG00000144357	30467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.28)	.	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	SNV	UBR3,missense_variant,p.Leu1118Val,ENST00000418381,;UBR3,missense_variant,p.Leu1118Val,ENST00000272793,;UBR3,missense_variant,p.Leu176Val,ENST00000392632,;UBR3,missense_variant,p.Leu266Val,ENST00000430321,;UBR3,non_coding_transcript_exon_variant,,ENST00000477461,;UBR3,non_coding_transcript_exon_variant,,ENST00000487689,;	3352	238	271	SUCCESS
NABP1	64859	.	GRCh37	2	192546742	192546742	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	381	251	732	0	ENST00000425611.2:c.301G>T	p.Glu101Ter	p.E101*	ENST00000425611	NM_001031716.2	101	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33352.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGAGTAA	NONE	.	.	Superfamily_domains:SSF50249,Gene3D:2.40.50.140,hmmpanther:PTHR13356,hmmpanther:PTHR13356:SF1	.	.	ENSP00000403683	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000425611	Transcript	.	.	ENSG00000173559	26232	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOSB2_HUMAN	NABP1	HGNC	.	.	UPI000006F339	SNV	NABP1,stop_gained,p.Glu101Ter,ENST00000425611,;NABP1,stop_gained,p.Glu71Ter,ENST00000435931,;NABP1,stop_gained,p.Glu21Ter,ENST00000410026,;NABP1,stop_gained,p.Glu21Ter,ENST00000409510,;NABP1,missense_variant,p.Asp101Tyr,ENST00000451500,;NABP1,missense_variant,p.Asp101Tyr,ENST00000307849,;NABP1,missense_variant,p.Asp21Tyr,ENST00000307834,;NABP1,splice_region_variant,,ENST00000462712,;NABP1,non_coding_transcript_exon_variant,,ENST00000491331,;NABP1,upstream_gene_variant,,ENST00000462824,;	384	733	632	SUCCESS
COQ10B	80219	.	GRCh37	2	198318284	198318284	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs556392955	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	91	249	0	ENST00000263960.2:c.-1C>A		p.*1*	ENST00000263960	NM_025147.3			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS2319.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCATGGC	NONE	by1000G	.	.	T:0	.	ENSP00000263960	T:0	1/5	.	.	.	.	.	.	.	.	rs556392955	1/5	PASS	ENST00000263960	Transcript	.	T:0.0002	ENSG00000115520	25819	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	CQ10B_HUMAN	COQ10B	HGNC	B7Z1Y4_HUMAN	.	UPI00000739C1	SNV	COQ10B,5_prime_UTR_variant,,ENST00000263960,;COQ10B,5_prime_UTR_variant,,ENST00000409398,;COQ10B,upstream_gene_variant,,ENST00000545340,;COQ10B,upstream_gene_variant,,ENST00000409010,;COQ10B,upstream_gene_variant,,ENST00000488445,;	138	249	211	SUCCESS
AOX1	316	.	GRCh37	2	201521589	201521589	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	118	0	ENST00000374700.2:c.3100C>T	p.Leu1034Phe	p.L1034F	ENST00000374700	NM_001159.3	1034	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33360.1	3100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCTTGAT	NONE	.	.	hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	.	.	ENSP00000363832	.	27/35	.	.	.	.	.	.	.	.	.	27/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	tolerated(0.29)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.Leu1034Phe,ENST00000374700,;AOX1,upstream_gene_variant,,ENST00000260930,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	3341	118	91	SUCCESS
MAP2	4133	.	GRCh37	2	210559368	210559368	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs780854358	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	131	0	ENST00000360351.4:c.2474A>G	p.Asp825Gly	p.D825G	ENST00000360351	NM_002374.3	825	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2384.1	2474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGATGCTG	NONE	.	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	rs780854358	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Asp821Gly,ENST00000447185,;MAP2,missense_variant,p.Asp825Gly,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	2980	131	104	SUCCESS
FN1	2335	.	GRCh37	2	216261901	216261901	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1350920539	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	96	0	ENST00000359671.1:c.3563C>A	p.Thr1188Asn	p.T1188N	ENST00000359671		1188	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS42814.1	3563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGTGTCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	23/46	.	.	.	.	.	.	.	.	.	23/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.07)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Thr1188Asn,ENST00000357867,;FN1,missense_variant,p.Thr1188Asn,ENST00000432072,;FN1,missense_variant,p.Thr1188Asn,ENST00000421182,;FN1,missense_variant,p.Thr1188Asn,ENST00000443816,;FN1,missense_variant,p.Thr1188Asn,ENST00000346544,;FN1,missense_variant,p.Thr1188Asn,ENST00000345488,;FN1,missense_variant,p.Thr1188Asn,ENST00000354785,;FN1,missense_variant,p.Thr1188Asn,ENST00000336916,;FN1,missense_variant,p.Thr1188Asn,ENST00000359671,;FN1,missense_variant,p.Thr1188Asn,ENST00000357009,;FN1,missense_variant,p.Thr1188Asn,ENST00000446046,;FN1,missense_variant,p.Thr1188Asn,ENST00000323926,;FN1,missense_variant,p.Thr1188Asn,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000492816,;	3933	96	86	SUCCESS
GIGYF2	26058	.	GRCh37	2	233709124	233709124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs371374687	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	53	131	0	ENST00000373563.4:c.3145A>G	p.Ile1049Val	p.I1049V	ENST00000373563	NM_001103146.1	1049	Ata/Gta	0	G:0.0002	.	.	.	.	G	I/V	protein_coding	YES	CCDS46542.1	3208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTATAAAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14445:SF38,hmmpanther:PTHR14445	.	G:0.0001	ENSP00000387170	.	27/31	.	.	.	.	.	.	.	.	rs371374687	27/31	PASS	ENST00000409451	Transcript	.	.	ENSG00000204120	11960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PERQ2_HUMAN	GIGYF2	HGNC	C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN	.	UPI00003FEC8F	SNV	GIGYF2,missense_variant,p.Ile1049Val,ENST00000373563,;GIGYF2,missense_variant,p.Ile1049Val,ENST00000409547,;GIGYF2,missense_variant,p.Ile1071Val,ENST00000373566,;GIGYF2,missense_variant,p.Ile1071Val,ENST00000409480,;GIGYF2,missense_variant,p.Ile1043Val,ENST00000409196,;GIGYF2,missense_variant,p.Ile78Val,ENST00000426102,;GIGYF2,missense_variant,p.Ile1070Val,ENST00000409451,;GIGYF2,3_prime_UTR_variant,,ENST00000452341,;GIGYF2,downstream_gene_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000471011,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;	3434	131	132	SUCCESS
UGT1A3	54659	.	GRCh37	2	234638551	234638551	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1575585523	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	42	133	0	ENST00000482026.1:c.779A>G	p.Asp260Gly	p.D260G	ENST00000482026		260	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2509.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGACTTTG	NONE	.	.	hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000418532	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000482026	Transcript	.	.	ENSG00000243135	12535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	UD13_HUMAN	UGT1A3	HGNC	Q8WX91_HUMAN,A9UKC8_HUMAN,A7E1U5_HUMAN,Q5DT01_HUMAN	.	UPI0000001045	SNV	UGT1A3,missense_variant,p.Asp260Gly,ENST00000482026,;UGT1A8,missense_variant,p.Asp260Gly,ENST00000609767,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A4,intron_variant,,ENST00000373409,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,non_coding_transcript_exon_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000484784,;	798	133	130	SUCCESS
C2orf53	0	.	GRCh37	2	27360805	27360805	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	78	0	ENST00000335524.3:c.393C>A	p.Ser131=	p.S131=	ENST00000335524	NM_178553.3	131	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1739.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGGAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22235,hmmpanther:PTHR22235:SF2	.	.	ENSP00000335017	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000335524	Transcript	.	.	ENSG00000186143	28677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB053_HUMAN	C2orf53	HGNC	.	.	UPI00001995FD	SNV	C2orf53,synonymous_variant,p.%3D,ENST00000335524,;C2orf53,intron_variant,,ENST00000432962,;PREB,upstream_gene_variant,,ENST00000406567,;PREB,upstream_gene_variant,,ENST00000260643,;PREB,upstream_gene_variant,,ENST00000416802,;PREB,upstream_gene_variant,,ENST00000474802,;PREB,upstream_gene_variant,,ENST00000468045,;PREB,upstream_gene_variant,,ENST00000444452,;	919	78	78	SUCCESS
C2orf73	129852	.	GRCh37	2	54587449	54587449	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	74	165	0	ENST00000398634.2:c.614C>A	p.Ser205Tyr	p.S205Y	ENST00000398634	NM_001100396.1	205	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS46285.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCCAAAA	NONE	.	.	.	.	.	ENSP00000381631	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000398634	Transcript	.	.	ENSG00000177994	26861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	CB073_HUMAN	C2orf73	HGNC	B7ZM11_HUMAN	.	UPI00001C1DC4	SNV	C2orf73,missense_variant,p.Ser147Tyr,ENST00000447328,;C2orf73,missense_variant,p.Ser205Tyr,ENST00000398634,;C2orf73,missense_variant,p.Ser211Tyr,ENST00000486488,;C2orf73,intron_variant,,ENST00000405749,;C2orf73,intron_variant,,ENST00000491538,;C2orf73,3_prime_UTR_variant,,ENST00000317627,;C2orf73,intron_variant,,ENST00000414747,;	656	165	165	SUCCESS
DCTN1	1639	.	GRCh37	2	74601519	74601520	+	intron_variant	Intron	INS	-	-	AC	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	215	67	226	0	ENST00000361874.3:c.415-54_415-53dup		p.*139*	ENST00000361874	NM_004082.4			0	.	.	.	.	.	AC	.	protein_coding	YES	CCDS1939.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGGGACAGA	NONE	.	.	.	.	.	ENSP00000354791	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361874	Transcript	.	.	ENSG00000204843	2711	.	.	MODIFIER	5/31	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCTN1_HUMAN	DCTN1	HGNC	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN	.	UPI0000129A25	insertion	DCTN1,5_prime_UTR_variant,,ENST00000407639,;DCTN1,5_prime_UTR_variant,,ENST00000409438,;DCTN1,intron_variant,,ENST00000394003,;DCTN1,intron_variant,,ENST00000458655,;DCTN1,intron_variant,,ENST00000409868,;DCTN1,intron_variant,,ENST00000409240,;DCTN1,intron_variant,,ENST00000361874,;DCTN1,intron_variant,,ENST00000409567,;DCTN1,downstream_gene_variant,,ENST00000449655,;DCTN1,downstream_gene_variant,,ENST00000454119,;DCTN1,downstream_gene_variant,,ENST00000421392,;DCTN1,downstream_gene_variant,,ENST00000440727,;DCTN1,downstream_gene_variant,,ENST00000437375,;DCTN1,downstream_gene_variant,,ENST00000417090,;DCTN1,downstream_gene_variant,,ENST00000413111,;DCTN1,upstream_gene_variant,,ENST00000497666,;DCTN1,upstream_gene_variant,,ENST00000463583,;DCTN1,non_coding_transcript_exon_variant,,ENST00000477966,;DCTN1,intron_variant,,ENST00000434055,;DCTN1,upstream_gene_variant,,ENST00000462813,;DCTN1,upstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000466110,;	.	226	282	SUCCESS
ARGFX	503582	.	GRCh37	3	121304965	121304965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	111	1	ENST00000334384.3:c.466C>A	p.Pro156Thr	p.P156T	ENST00000334384	NM_001012659.1	156	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33834.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGCCCACC	NONE	.	.	hmmpanther:PTHR24329:SF134,hmmpanther:PTHR24329	.	.	ENSP00000335578	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000334384	Transcript	.	.	ENSG00000186103	30146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	deleterious(0.02)	.	ARGFX_HUMAN	ARGFX	HGNC	.	.	UPI00004ED62C	SNV	ARGFX,missense_variant,p.Pro156Thr,ENST00000334384,;	476	112	77	SUCCESS
EAF2	55840	.	GRCh37	3	121573668	121573668	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	rs753584167	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	398	252	683	0	ENST00000273668.2:c.336A>C		p.X112_splice	ENST00000273668	NM_018456.4	112	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS3006.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAAGGTA	NONE	.	.	hmmpanther:PTHR15970,hmmpanther:PTHR15970:SF7,Pfam_domain:PF09816	.	.	ENSP00000273668	.	3/6	.	.	.	.	.	.	.	.	rs753584167	3/6	PASS	ENST00000273668	Transcript	.	.	ENSG00000145088	23115	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAF2_HUMAN	EAF2	HGNC	F8WF04_HUMAN	.	UPI000000D7DA	SNV	EAF2,synonymous_variant,p.%3D,ENST00000451944,;EAF2,synonymous_variant,p.%3D,ENST00000273668,;EAF2,splice_region_variant,,ENST00000490477,;EAF2,intron_variant,,ENST00000490434,;	407	683	650	SUCCESS
MUC13	56667	.	GRCh37	3	124635177	124635177	+	synonymous_variant	Silent	SNP	A	A	G	rs370885108	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	90	199	0	ENST00000311075.3:c.948T>C	p.Phe316=	p.F316=	ENST00000311075	NM_033049.3	316	ttT/ttC	0	C:0	.	.	.	.	G	F	protein_coding	YES	.	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGAAAGTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF21,Pfam_domain:PF01390	.	C:0.0001	ENSP00000312235	.	6/12	.	.	.	.	.	.	.	.	rs370885108	6/12	PASS	ENST00000311075	Transcript	.	.	ENSG00000173702	7511	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC13_HUMAN	MUC13	HGNC	.	.	UPI00001AEF8F	SNV	MUC13,synonymous_variant,p.%3D,ENST00000311075,;MUC13,downstream_gene_variant,,ENST00000478191,;MUC13,upstream_gene_variant,,ENST00000462728,;MUC13,downstream_gene_variant,,ENST00000490147,;	987	199	200	SUCCESS
COL6A6	131873	.	GRCh37	3	130380832	130380832	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1392021080	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	46	105	0	ENST00000358511.6:c.6182T>C	p.Ile2061Thr	p.I2061T	ENST00000358511	NM_001102608.1	2061	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS46911.1	6182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATTGGTC	NONE	.	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.18)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Ile2061Thr,ENST00000453409,;COL6A6,missense_variant,p.Ile2061Thr,ENST00000358511,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;	6213	105	128	SUCCESS
ESYT3	83850	.	GRCh37	3	138183192	138183192	+	synonymous_variant	Silent	SNP	G	G	A	rs914992530	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	70	0	ENST00000389567.4:c.921G>A	p.Val307=	p.V307=	ENST00000389567	NM_031913.3	307	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3101.2	921	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGATCAG	NONE	.	.	hmmpanther:PTHR10774:SF27,hmmpanther:PTHR10774,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000374218	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000389567	Transcript	.	.	ENSG00000158220	24295	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESYT3_HUMAN	ESYT3	HGNC	.	.	UPI0000251E45	SNV	ESYT3,synonymous_variant,p.%3D,ENST00000389567,;ESYT3,downstream_gene_variant,,ENST00000289135,;ESYT3,synonymous_variant,p.%3D,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;ESYT3,upstream_gene_variant,,ENST00000468103,;	1107	70	59	SUCCESS
CCDC39	339829	.	GRCh37	3	180377348	180377348	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	48	169	0	ENST00000442201.2:c.630A>G	p.Ala210=	p.A210=	ENST00000442201	NM_181426.1	210	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46964.1	630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGTGCTGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,synonymous_variant,p.%3D,ENST00000273654,;CCDC39,synonymous_variant,p.%3D,ENST00000442201,;CCDC39,downstream_gene_variant,,ENST00000471307,;CCDC39,synonymous_variant,p.%3D,ENST00000476379,;	750	169	120	SUCCESS
KIAA0226	0	.	GRCh37	3	197409349	197409349	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	154	0	ENST00000296343.5:c.2118A>T	p.Pro706=	p.P706=	ENST00000296343	NM_014687.1	706	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43195.1	2118	RADIA|MUTECT|MUSE	.	GGGGCTGGATG	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7	.	.	ENSP00000296343	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000296343	Transcript	.	.	ENSG00000145016	28991	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RUBIC_HUMAN	KIAA0226	HGNC	B4DIJ0_HUMAN	.	UPI00001C1DE4	SNV	KIAA0226,synonymous_variant,p.%3D,ENST00000415452,;KIAA0226,synonymous_variant,p.%3D,ENST00000296343,;KIAA0226,synonymous_variant,p.%3D,ENST00000413360,;KIAA0226,synonymous_variant,p.%3D,ENST00000273582,;KIAA0226,synonymous_variant,p.%3D,ENST00000389665,;KIAA0226,downstream_gene_variant,,ENST00000471364,;	2118	154	119	SUCCESS
KIAA0226	0	.	GRCh37	3	197409351	197409351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	47	156	0	ENST00000296343.5:c.2116C>T	p.Pro706Ser	p.P706S	ENST00000296343	NM_014687.1	706	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS43195.1	2116	RADIA|MUTECT|MUSE	.	GGCTGGATGAA	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7	.	.	ENSP00000296343	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000296343	Transcript	.	.	ENSG00000145016	28991	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.052)	.	tolerated(0.05)	.	RUBIC_HUMAN	KIAA0226	HGNC	B4DIJ0_HUMAN	.	UPI00001C1DE4	SNV	KIAA0226,missense_variant,p.Pro490Ser,ENST00000415452,;KIAA0226,missense_variant,p.Pro706Ser,ENST00000296343,;KIAA0226,missense_variant,p.Pro668Ser,ENST00000413360,;KIAA0226,missense_variant,p.Pro661Ser,ENST00000273582,;KIAA0226,missense_variant,p.Pro731Ser,ENST00000389665,;KIAA0226,downstream_gene_variant,,ENST00000471364,;	2116	156	122	SUCCESS
DENND6A	201627	.	GRCh37	3	57646534	57646534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764299998	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	734	504	1362	0	ENST00000311128.5:c.652G>T	p.Val218Leu	p.V218L	ENST00000311128	NM_152678.2	218	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS33773.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACTGGGG	NONE	.	.	hmmpanther:PTHR13677:SF1,hmmpanther:PTHR13677	.	.	ENSP00000311401	.	7/20	.	.	.	.	.	.	.	.	rs764299998	7/20	PASS	ENST00000311128	Transcript	.	.	ENSG00000174839	26635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.41)	.	DEN6A_HUMAN	DENND6A	HGNC	.	.	UPI00000744F6	SNV	DENND6A,missense_variant,p.Val8Leu,ENST00000477344,;DENND6A,missense_variant,p.Val218Leu,ENST00000311128,;DENND6A,non_coding_transcript_exon_variant,,ENST00000487662,;	723	1363	1238	SUCCESS
GYPE	2996	.	GRCh37	4	144801614	144801614	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769380559	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	232	181	416	0	ENST00000358615.4:c.86C>T	p.Thr29Ile	p.T29I	ENST00000358615	NM_198682.2	29	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS47138.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGTGTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13813,hmmpanther:PTHR13813:SF1	.	.	ENSP00000351430	.	2/4	.	.	.	.	.	.	.	.	rs769380559	2/4	PASS	ENST00000358615	Transcript	.	.	ENSG00000197465	4705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	deleterious_low_confidence(0)	.	GLPE_HUMAN	GYPE	HGNC	Q9NRB2_HUMAN	.	UPI000012B76B	SNV	GYPE,missense_variant,p.Thr29Ile,ENST00000437468,;GYPE,missense_variant,p.Thr29Ile,ENST00000358615,;GYPE,missense_variant,p.Thr29Ile,ENST00000506264,;	138	416	413	SUCCESS
KLHL2	11275	.	GRCh37	4	166184404	166184404	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	99	246	0	ENST00000226725.6:c.437G>T	p.Cys146Phe	p.C146F	ENST00000226725	NM_007246.3	146	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS54815.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTGTGAAT	NONE	.	.	Superfamily_domains:SSF54695,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412	.	.	ENSP00000424198	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000514860	Transcript	.	.	ENSG00000109466	6353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,missense_variant,p.Cys150Phe,ENST00000514860,;KLHL2,missense_variant,p.Cys108Phe,ENST00000509704,;KLHL2,missense_variant,p.Cys146Phe,ENST00000226725,;KLHL2,missense_variant,p.Cys58Phe,ENST00000538127,;KLHL2,missense_variant,p.Cys49Phe,ENST00000421009,;KLHL2,5_prime_UTR_variant,,ENST00000506761,;KLHL2,intron_variant,,ENST00000506541,;KLHL2,upstream_gene_variant,,ENST00000509028,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	699	246	205	SUCCESS
SH3RF1	57630	.	GRCh37	4	170043263	170043263	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1046797451	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	93	0	ENST00000284637.9:c.1334C>T	p.Thr445Ile	p.T445I	ENST00000284637	NM_020870.3	445	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34099.1	1334	RADIA|MUTECT|MUSE	.	GGCGAGTCTGC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661:SF8,hmmpanther:PTHR10661,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	.	.	ENSP00000284637	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000284637	Transcript	.	.	ENSG00000154447	17650	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.043)	.	tolerated(0.18)	.	SH3R1_HUMAN	SH3RF1	HGNC	D6RHX5_HUMAN,D6RAL3_HUMAN	.	UPI0000160033	SNV	SH3RF1,missense_variant,p.Thr445Ile,ENST00000284637,;SH3RF1,non_coding_transcript_exon_variant,,ENST00000508685,;SH3RF1,missense_variant,p.Leu285Phe,ENST00000511421,;	1676	93	96	SUCCESS
CLRN2	645104	.	GRCh37	4	17516820	17516820	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs369858813	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	37	0	ENST00000511148.2:c.-70G>T		p.*24*	ENST00000511148	NM_001079827.2			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS47032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCGAGTAT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000424711	A:0	1/3	.	.	.	.	.	.	.	.	rs369858813	1/3	PASS	ENST00000511148	Transcript	.	A:0.0004	ENSG00000249581	33939	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	CLRN2_HUMAN	CLRN2	HGNC	.	.	UPI0000D6154A	SNV	CLRN2,5_prime_UTR_variant,,ENST00000511148,;QDPR,upstream_gene_variant,,ENST00000281243,;QDPR,upstream_gene_variant,,ENST00000428702,;QDPR,upstream_gene_variant,,ENST00000505710,;QDPR,upstream_gene_variant,,ENST00000508623,;QDPR,upstream_gene_variant,,ENST00000513615,;QDPR,upstream_gene_variant,,ENST00000507439,;QDPR,upstream_gene_variant,,ENST00000514300,;	33	37	33	SUCCESS
NSUN7	79730	.	GRCh37	4	40809188	40809188	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	56	150	0	ENST00000381782.2:c.1511T>C	p.Ile504Thr	p.I504T	ENST00000381782	NM_024677.4	504	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3461.2	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATTTTAA	NONE	.	.	PROSITE_profiles:PS51686,hmmpanther:PTHR14663:SF2,hmmpanther:PTHR14663,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000371201	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000381782	Transcript	.	.	ENSG00000179299	25857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	deleterious(0)	.	NSUN7_HUMAN	NSUN7	HGNC	B4E1Z6_HUMAN	.	UPI000066D9E8	SNV	NSUN7,missense_variant,p.Ile504Thr,ENST00000381782,;NSUN7,intron_variant,,ENST00000316607,;APBB2,downstream_gene_variant,,ENST00000543538,;APBB2,downstream_gene_variant,,ENST00000295974,;NSUN7,non_coding_transcript_exon_variant,,ENST00000423784,;NSUN7,non_coding_transcript_exon_variant,,ENST00000478857,;	2006	150	137	SUCCESS
KIAA0232	9778	.	GRCh37	4	6865250	6865250	+	synonymous_variant	Silent	SNP	A	A	G	rs549270762	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	117	0	ENST00000307659.5:c.3141A>G	p.Pro1047=	p.P1047=	ENST00000307659	NM_014743.2	1047	ccA/ccG	0	.	G:0.0008	.	G:0	.	G	P	protein_coding	YES	CCDS43209.1	3141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCATTTTC	NONE	by1000G	.	hmmpanther:PTHR17611,Pfam_domain:PF15376	G:0	.	ENSP00000303928	G:0	7/10	.	.	.	.	.	.	.	.	rs549270762	7/10	PASS	ENST00000307659	Transcript	.	G:0.0002	ENSG00000170871	28992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	K0232_HUMAN	KIAA0232	HGNC	D6REK0_HUMAN	.	UPI000013EC3F	SNV	KIAA0232,synonymous_variant,p.%3D,ENST00000307659,;KIAA0232,synonymous_variant,p.%3D,ENST00000425103,;KIAA0232,downstream_gene_variant,,ENST00000503069,;	3596	117	120	SUCCESS
ALB	213	.	GRCh37	4	74281992	74281992	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	325	139	338	0	ENST00000295897.4:c.1212del	p.Val405TrpfsTer7	p.V405Wfs*7	ENST00000295897	NM_000477.5	404	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS3555.1	1211	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCTCTTGTGG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Val405TrpfsTer7,ENST00000509063,;ALB,frameshift_variant,p.Val250TrpfsTer7,ENST00000511370,;ALB,frameshift_variant,p.Val213TrpfsTer7,ENST00000415165,;ALB,frameshift_variant,p.Val405TrpfsTer7,ENST00000295897,;ALB,frameshift_variant,p.Val255TrpfsTer7,ENST00000503124,;ALB,frameshift_variant,p.Val290TrpfsTer7,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,downstream_gene_variant,,ENST00000504043,;	1300	338	464	SUCCESS
AREGB	0	.	GRCh37	4	75484681	75484681	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782005619	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	248	488	0	ENST00000380846.3:c.469G>A	p.Gly157Arg	p.G157R	ENST00000380846		157	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	.	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGGAGAA	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10740:SF12,hmmpanther:PTHR10740,Gene3D:2.10.25.10,Superfamily_domains:SSF57196	.	.	ENSP00000370227	.	3/6	.	.	.	.	.	.	.	.	rs782005619	3/6	PASS	ENST00000380846	Transcript	.	.	ENSG00000205595	34509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AREG_HUMAN	AREGB	HGNC	.	.	UPI0000125A24	SNV	AREGB,missense_variant,p.Gly157Arg,ENST00000380846,;AC142293.3,intron_variant,,ENST00000510419,;AREGB,non_coding_transcript_exon_variant,,ENST00000511772,;	679	488	339	SUCCESS
PRKG2	5593	.	GRCh37	4	82125912	82125912	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751548718	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	56	141	0	ENST00000264399.1:c.290C>T	p.Ser97Phe	p.S97F	ENST00000264399	NM_006259.1	97	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS3589.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGAGGCC	NONE	byFrequency	.	hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,PIRSF_domain:PIRSF000559	.	.	ENSP00000378945	.	2/19	.	.	.	.	.	.	.	.	rs751548718	2/19	PASS	ENST00000395578	Transcript	.	.	ENSG00000138669	9416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	tolerated(0.15)	.	KGP2_HUMAN	PRKG2	HGNC	B7ZA25_HUMAN	.	UPI000012DDC6	SNV	PRKG2,missense_variant,p.Ser97Phe,ENST00000418486,;PRKG2,missense_variant,p.Ser97Phe,ENST00000395578,;PRKG2,missense_variant,p.Ser97Phe,ENST00000264399,;	407	141	142	SUCCESS
SNCAIP	9627	.	GRCh37	5	121780326	121780326	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	54	145	0	ENST00000261368.8:c.1491C>A	p.Ala497=	p.A497=	ENST00000261368	NM_005460.2	497	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4131.1	1491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCGAGCG	NONE	.	.	Superfamily_domains:SSF48403,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR22882,PROSITE_profiles:PS50297	.	.	ENSP00000261368	.	8/11	.	.	.	.	.	.	.	.	COSM1060079,COSM1060080	8/11	PASS	ENST00000261368	Transcript	1	.	ENSG00000064692	11139	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SNCAP_HUMAN	SNCAIP	HGNC	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN	.	UPI000006D872	SNV	SNCAIP,synonymous_variant,p.%3D,ENST00000379536,;SNCAIP,synonymous_variant,p.%3D,ENST00000509154,;SNCAIP,synonymous_variant,p.%3D,ENST00000261368,;SNCAIP,synonymous_variant,p.%3D,ENST00000379538,;SNCAIP,synonymous_variant,p.%3D,ENST00000542191,;SNCAIP,synonymous_variant,p.%3D,ENST00000379533,;SNCAIP,synonymous_variant,p.%3D,ENST00000414317,;SNCAIP,synonymous_variant,p.%3D,ENST00000261367,;SNCAIP,3_prime_UTR_variant,,ENST00000503116,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;CTC-210G5.1,intron_variant,,ENST00000510972,;CTC-210G5.1,intron_variant,,ENST00000503529,;CTC-210G5.1,intron_variant,,ENST00000506053,;CTC-210G5.1,intron_variant,,ENST00000509993,;CTC-210G5.1,downstream_gene_variant,,ENST00000505546,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000509023,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000513719,;SNCAIP,downstream_gene_variant,,ENST00000510003,;	1753	145	254	SUCCESS
FBN2	2201	.	GRCh37	5	127614345	127614345	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	97	0	ENST00000262464.4:c.7327T>G	p.Tyr2443Asp	p.Y2443D	ENST00000262464	NM_001999.3	2443	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS34222.1	7327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATATCCTG	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19	.	.	ENSP00000424571	.	63/71	.	.	.	.	.	.	.	.	.	63/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Tyr2443Asp,ENST00000262464,;FBN2,missense_variant,p.Tyr2443Asp,ENST00000508053,;	8302	97	132	SUCCESS
FBN2	2201	.	GRCh37	5	127680092	127680092	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	250	9	141	0	ENST00000262464.4:c.3328G>A	p.Glu1110Lys	p.E1110K	ENST00000262464	NM_001999.3	1110	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34222.1	3328	MUTECT|MUSE	.	TCTTTCCTCCA	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	31/71	.	.	.	.	.	.	.	.	.	31/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	tolerated(0.08)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Glu1110Lys,ENST00000262464,;FBN2,missense_variant,p.Glu1110Lys,ENST00000508053,;FBN2,missense_variant,p.Glu1077Lys,ENST00000508989,;	4303	141	259	SUCCESS
PCDHB13	56123	.	GRCh37	5	140594520	140594520	+	synonymous_variant	Silent	SNP	C	C	T	rs148254417	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	279	273	0	ENST00000341948.4:c.825C>T	p.Asn275=	p.N275=	ENST00000341948	NM_018933.2	275	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS4255.1	825	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAACGGAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	.	1/1	common_in_exac	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,synonymous_variant,p.%3D,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	1012	273	427	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140772927	140772927	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	80	189	0	ENST00000398604.2:c.547C>G	p.Gln183Glu	p.Q183E	ENST00000398604	NM_032088.1	183	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS47291.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGCAGACT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	COSM3994057	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.535)	.	deleterious_low_confidence(0)	1	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Gln183Glu,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	547	189	314	SUCCESS
PCDHGC5	56097	.	GRCh37	5	140870856	140870856	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	39	102	0	ENST00000252087.1:c.2049C>T	p.His683=	p.H683=	ENST00000252087	NM_018929.2	683	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS4263.1	2049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACACCCTCC	NONE	.	.	hmmpanther:PTHR24028:SF80,hmmpanther:PTHR24028	.	.	ENSP00000252087	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252087	Transcript	.	.	ENSG00000240764	8718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGM_HUMAN	PCDHGC5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006D689	SNV	PCDHGC5,synonymous_variant,p.%3D,ENST00000252087,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGC3,intron_variant,,ENST00000308177,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGC4,intron_variant,,ENST00000306593,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;	2049	102	171	SUCCESS
PPARGC1B	133522	.	GRCh37	5	149225754	149225754	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	17	0	ENST00000309241.5:c.2971+277A>G		p.*991*	ENST00000309241	NM_133263.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4298.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAGCTGG	NONE	.	.	.	.	.	ENSP00000312649	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309241	Transcript	.	.	ENSG00000155846	30022	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRGC2_HUMAN	PPARGC1B	HGNC	.	.	UPI000006F49D	SNV	PPARGC1B,3_prime_UTR_variant,,ENST00000394320,;PPARGC1B,intron_variant,,ENST00000360453,;PPARGC1B,intron_variant,,ENST00000403750,;PPARGC1B,intron_variant,,ENST00000309241,;PPARGC1B,intron_variant,,ENST00000434684,;PPARGC1B,intron_variant,,ENST00000492495,;	.	17	35	SUCCESS
FAM71B	153745	.	GRCh37	5	156590354	156590354	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	60	54	0	ENST00000302938.4:c.922C>T	p.Gln308Ter	p.Q308*	ENST00000302938	NM_130899.2	308	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS4335.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTGACCTG	NONE	.	.	hmmpanther:PTHR22574:SF2,hmmpanther:PTHR22574	.	.	ENSP00000305596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302938	Transcript	.	.	ENSG00000170613	28397	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA71B_HUMAN	FAM71B	HGNC	.	.	UPI000006F9DC	SNV	FAM71B,stop_gained,p.Gln308Ter,ENST00000302938,;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	1018	54	79	SUCCESS
TTC1	7265	.	GRCh37	5	159463724	159463724	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	88	0	ENST00000231238.5:c.418A>T	p.Ser140Cys	p.S140C	ENST00000231238	NM_003314.1	140	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS4348.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATAGTCGA	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13414,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF321,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000231238	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000231238	Transcript	.	.	ENSG00000113312	12391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	TTC1_HUMAN	TTC1	HGNC	.	.	UPI0000030D6C	SNV	TTC1,missense_variant,p.Ser140Cys,ENST00000522793,;TTC1,missense_variant,p.Ser140Cys,ENST00000231238,;TTC1,upstream_gene_variant,,ENST00000520274,;TTC1,non_coding_transcript_exon_variant,,ENST00000522073,;	528	88	104	SUCCESS
RP11-1277A3.2	0	.	GRCh37	5	177059214	177059214	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	36	105	0	ENST00000500444.2:n.130-4599C>T		p.*44*	ENST00000500444				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGCAAGG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000500444	Transcript	.	.	ENSG00000246596	.	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1277A3.2	Clone_based_vega_gene	.	.	.	SNV	RP11-1277A3.2,non_coding_transcript_exon_variant,,ENST00000515045,;RP11-1277A3.2,upstream_gene_variant,,ENST00000499314,;RP11-1277A3.2,intron_variant,,ENST00000500444,;	.	105	142	SUCCESS
IL6ST	3572	.	GRCh37	5	55265599	55265599	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	107	102	0	ENST00000336909.5:c.149T>C	p.Leu50Pro	p.L50P	ENST00000336909		50	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3971.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTAGCACA	NONE	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF06328,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	SNV	IL6ST,missense_variant,p.Leu50Pro,ENST00000522633,;IL6ST,missense_variant,p.Leu50Pro,ENST00000381287,;IL6ST,missense_variant,p.Leu50Pro,ENST00000381293,;IL6ST,missense_variant,p.Leu50Pro,ENST00000336909,;IL6ST,missense_variant,p.Leu50Pro,ENST00000381298,;IL6ST,missense_variant,p.Leu50Pro,ENST00000536319,;IL6ST,missense_variant,p.Leu50Pro,ENST00000381294,;IL6ST,missense_variant,p.Leu50Pro,ENST00000502326,;IL6ST,intron_variant,,ENST00000396816,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,intron_variant,,ENST00000577363,;IL6ST,missense_variant,p.Leu50Pro,ENST00000503773,;	462	102	169	SUCCESS
NDUFAF2	91942	.	GRCh37	5	60368969	60368969	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1031796945	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	38	97	0	ENST00000296597.5:c.145A>G	p.Lys49Glu	p.K49E	ENST00000296597	NM_174889.4	49	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3979.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAAAAGA	NONE	.	.	Pfam_domain:PF05071,hmmpanther:PTHR32470:SF2,hmmpanther:PTHR32470	.	.	ENSP00000296597	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000296597	Transcript	1	.	ENSG00000164182	28086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	deleterious(0.04)	.	MIMIT_HUMAN	NDUFAF2	HGNC	.	.	UPI000006D648	SNV	NDUFAF2,missense_variant,p.Lys49Glu,ENST00000296597,;NDUFAF2,missense_variant,p.Lys23Glu,ENST00000502658,;NDUFAF2,intron_variant,,ENST00000511107,;NDUFAF2,non_coding_transcript_exon_variant,,ENST00000512623,;	272	97	157	SUCCESS
MAP1B	4131	.	GRCh37	5	71403461	71403461	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	73	0	ENST00000296755.7:c.103A>C	p.Ser35Arg	p.S35R	ENST00000296755	NM_005909.3	35	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS4012.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACAGCAAG	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Ser35Arg,ENST00000511641,;MAP1B,missense_variant,p.Ser35Arg,ENST00000512974,;MAP1B,missense_variant,p.Ser35Arg,ENST00000296755,;MAP1B,non_coding_transcript_exon_variant,,ENST00000504183,;MAP1B,missense_variant,p.Ser35Arg,ENST00000513526,;	401	73	123	SUCCESS
GPRC6A	222545	.	GRCh37	6	117130749	117130749	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	22	79	0	ENST00000310357.3:c.226G>A	p.Ala76Thr	p.A76T	ENST00000310357	NM_148963.2	76	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5112.1	226	MUTECT|MUSE	.	CATGGCAAGAG	NONE	.	.	hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000309493	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,missense_variant,p.Ala76Thr,ENST00000310357,;GPRC6A,missense_variant,p.Ala76Thr,ENST00000368549,;GPRC6A,missense_variant,p.Ala76Thr,ENST00000530250,;	248	79	33	SUCCESS
MCM9	254394	.	GRCh37	6	119150342	119150342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	41	135	0	ENST00000316316.6:c.1397A>G	p.Gln466Arg	p.Q466R	ENST00000316316	NM_017696.2	466	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS56447.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTGGGGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,SMART_domains:SM00350,Gene3D:3.40.50.300,Pfam_domain:PF00493,hmmpanther:PTHR11630:SF48,hmmpanther:PTHR11630,PROSITE_profiles:PS50051	.	.	ENSP00000314505	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000316316	Transcript	.	.	ENSG00000111877	21484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.22)	.	MCM9_HUMAN	MCM9	HGNC	D6RHY8_HUMAN,D6RE85_HUMAN	.	UPI0001AE7302	SNV	MCM9,missense_variant,p.Gln26Arg,ENST00000458674,;MCM9,missense_variant,p.Gln466Arg,ENST00000316316,;MCM9,non_coding_transcript_exon_variant,,ENST00000505485,;MCM9,non_coding_transcript_exon_variant,,ENST00000368478,;	1684	135	64	SUCCESS
FUCA2	2519	.	GRCh37	6	143818355	143818355	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	12	23	0	ENST00000002165.6:c.1263+171A>G		p.*421*	ENST00000002165	NM_032020.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCTCCCAA	NONE	.	.	.	.	.	ENSP00000002165	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000002165	Transcript	.	.	ENSG00000001036	4008	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUCO2_HUMAN	FUCA2	HGNC	.	.	UPI0000073C10	SNV	FUCA2,3_prime_UTR_variant,,ENST00000451668,;FUCA2,3_prime_UTR_variant,,ENST00000438118,;FUCA2,intron_variant,,ENST00000002165,;RP1-20N2.6,intron_variant,,ENST00000610068,;RP1-20N2.6,intron_variant,,ENST00000591892,;RP1-20N2.6,intron_variant,,ENST00000589563,;FUCA2,downstream_gene_variant,,ENST00000367585,;	.	23	16	SUCCESS
UTRN	7402	.	GRCh37	6	144863929	144863929	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	95	0	ENST00000367545.3:c.6520-2A>G		p.X2174_splice	ENST00000367545	NM_007124.2	2174		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34547.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTAGATTT	NONE	.	.	.	.	.	ENSP00000356515	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	HIGH	44/73	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,splice_acceptor_variant,,ENST00000367545,;	.	95	37	SUCCESS
ALDH5A1	7915	.	GRCh37	6	24528371	24528371	+	synonymous_variant	Silent	SNP	C	C	T	rs771829991	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	9	108	0	ENST00000357578.3:c.1320C>T	p.Phe440=	p.F440=	ENST00000357578	NM_001080.3	440	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS4556.1	1359	MUTECT|MUSE	.	ACTTTCGGGCC	NONE	byFrequency	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF49,Pfam_domain:PF00171,Gene3D:3.40.309.10,TIGRFAM_domain:TIGR01780,Superfamily_domains:SSF53720	.	.	ENSP00000314649	.	9/11	.	.	.	.	.	.	.	.	rs771829991	9/11	PASS	ENST00000348925	Transcript	.	.	ENSG00000112294	408	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSDH_HUMAN	ALDH5A1	HGNC	.	.	UPI00001619D2	SNV	ALDH5A1,synonymous_variant,p.%3D,ENST00000491546,;ALDH5A1,synonymous_variant,p.%3D,ENST00000348925,;ALDH5A1,synonymous_variant,p.%3D,ENST00000546278,;ALDH5A1,synonymous_variant,p.%3D,ENST00000357578,;ALDH5A1,non_coding_transcript_exon_variant,,ENST00000479394,;ALDH5A1,upstream_gene_variant,,ENST00000492697,;	1387	109	174	SUCCESS
ZBTB9	221504	.	GRCh37	6	33423514	33423514	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767106096	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	87	86	0	ENST00000395064.2:c.637G>A	p.Glu213Lys	p.E213K	ENST00000395064	NM_152735.3	213	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4780.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24414:SF24,hmmpanther:PTHR24414	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	rs767106096,COSM130284	2/2	PASS	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.197)	.	tolerated(0.11)	0,1	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	SNV	ZBTB9,missense_variant,p.Glu213Lys,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000428982,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	905	86	144	SUCCESS
CDKN1A	1026	.	GRCh37	6	36652053	36652053	+	synonymous_variant	Silent	SNP	C	C	T	rs1366496685	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	75	0	ENST00000244741.5:c.175C>T	p.Leu59=	p.L59=	ENST00000244741	NM_000389.4	59	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4824.1	175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACTGGAG	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16,Pfam_domain:PF02234,Gene3D:1jsuC00	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,synonymous_variant,p.%3D,ENST00000244741,;CDKN1A,synonymous_variant,p.%3D,ENST00000373711,;CDKN1A,synonymous_variant,p.%3D,ENST00000448526,;CDKN1A,synonymous_variant,p.%3D,ENST00000405375,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	410	75	127	SUCCESS
PRPF4B	8899	.	GRCh37	6	4060749	4060749	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	426	346	1	ENST00000337659.6:c.2923C>T	p.Gln975Ter	p.Q975*	ENST00000337659	NM_003913.4	975	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS4488.1	2923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACCAGCTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF45,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000337194	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000337659	Transcript	.	.	ENSG00000112739	17346	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP4B_HUMAN	PRPF4B	HGNC	H0YDJ3_HUMAN,F5H2U2_HUMAN	.	UPI000013DD12	SNV	PRPF4B,stop_gained,p.Gln975Ter,ENST00000337659,;PRPF4B,stop_gained,p.Gln961Ter,ENST00000538861,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000494674,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,upstream_gene_variant,,ENST00000461612,;PRPF4B,downstream_gene_variant,,ENST00000466185,;PRPF4B,upstream_gene_variant,,ENST00000490653,;PRPF4B,stop_gained,p.Gln555Ter,ENST00000481109,;PRPF4B,stop_gained,p.Gln975Ter,ENST00000480058,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000463634,;	3023	347	607	SUCCESS
TAS2R16	50833	.	GRCh37	7	122634906	122634906	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	46	130	0	ENST00000249284.2:c.783G>C	p.Trp261Cys	p.W261C	ENST00000249284	NM_016945.2	261	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS5785.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCCAGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000249284	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000249284	Transcript	.	.	ENSG00000128519	14921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.09)	.	T2R16_HUMAN	TAS2R16	HGNC	Q50KN6_HUMAN	.	UPI0000038B18	SNV	TAS2R16,missense_variant,p.Trp261Cys,ENST00000249284,;	849	130	140	SUCCESS
SSPO	0	.	GRCh37	7	149524046	149524046	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	A	A	G	rs1456997903	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	52	0	ENST00000378016.2:n.14768A>G		p.X4923_splice	ENST00000378016		4923		0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCAGGGTG	NONE	.	.	.	.	.	.	.	103/109	.	.	.	.	.	.	.	.	.	103/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,splice_region_variant,,ENST00000378016,;SSPO,splice_region_variant,,ENST00000493567,;SSPO,intron_variant,,ENST00000492965,;SSPO,intron_variant,,ENST00000488835,;SSPO,intron_variant,,ENST00000461331,;SSPO,downstream_gene_variant,,ENST00000464974,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;	14768	52	31	SUCCESS
TWIST1	7291	.	GRCh37	7	19157077	19157077	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	120	318	0	ENST00000242261.5:c.-133C>A		p.*45*	ENST00000242261	NM_000474.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5367.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGGACGG	NONE	.	.	.	.	.	ENSP00000242261	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000242261	Transcript	.	.	ENSG00000122691	12428	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TWST1_HUMAN	TWIST1	HGNC	.	.	UPI00001377DC	SNV	TWIST1,5_prime_UTR_variant,,ENST00000242261,;AC003986.7,upstream_gene_variant,,ENST00000417460,;AC003986.6,downstream_gene_variant,,ENST00000419944,;TWIST1,upstream_gene_variant,,ENST00000443687,;TWIST1,upstream_gene_variant,,ENST00000354571,;	219	318	266	SUCCESS
TNS3	64759	.	GRCh37	7	47440020	47440020	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	78	242	0	ENST00000311160.9:c.889G>A	p.Val297Ile	p.V297I	ENST00000311160	NM_022748.11	297	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS5506.2	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACTAATT	NONE	.	.	Superfamily_domains:SSF49562,Pfam_domain:PF10409,Gene3D:1d5rA02,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305,PROSITE_profiles:PS51182	.	.	ENSP00000381854	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.11)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Val297Ile,ENST00000398879,;TNS3,missense_variant,p.Val297Ile,ENST00000311160,;TNS3,missense_variant,p.Val400Ile,ENST00000457718,;TNS3,missense_variant,p.Val386Ile,ENST00000450444,;TNS3,intron_variant,,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000442536,;TNS3,non_coding_transcript_exon_variant,,ENST00000469470,;TNS3,non_coding_transcript_exon_variant,,ENST00000485555,;	1256	242	217	SUCCESS
TYW1	55253	.	GRCh37	7	66461903	66461903	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	77	0	ENST00000359626.5:c.-63A>G		p.*21*	ENST00000359626	NM_018264.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5538.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTACCAGT	NONE	.	.	.	.	.	ENSP00000352645	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000359626	Transcript	.	.	ENSG00000198874	25598	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYW1_HUMAN	TYW1	HGNC	B4DW16_HUMAN	.	UPI00003674A9	SNV	TYW1,5_prime_UTR_variant,,ENST00000442959,;TYW1,5_prime_UTR_variant,,ENST00000359626,;SBDS,upstream_gene_variant,,ENST00000246868,;TYW1,intron_variant,,ENST00000491969,;TYW1,5_prime_UTR_variant,,ENST00000361660,;TYW1,non_coding_transcript_exon_variant,,ENST00000475392,;SBDS,upstream_gene_variant,,ENST00000490953,;SBDS,upstream_gene_variant,,ENST00000414306,;SBDS,upstream_gene_variant,,ENST00000463579,;	102	77	51	SUCCESS
CACNA2D1	781	.	GRCh37	7	81593423	81593423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	93	238	0	ENST00000356253.5:c.2765C>T	p.Pro922Leu	p.P922L	ENST00000356253		922	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5598.1	2729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGGCTAT	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	34/39	.	.	.	.	.	.	.	.	.	34/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Pro922Leu,ENST00000356253,;CACNA2D1,missense_variant,p.Pro910Leu,ENST00000356860,;CACNA2D1,missense_variant,p.Pro122Leu,ENST00000535308,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;CACNA2D1,downstream_gene_variant,,ENST00000486539,;	3068	238	222	SUCCESS
KIAA1324L	0	.	GRCh37	7	86526844	86526844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771865743	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	121	0	ENST00000450689.2:c.2663G>A	p.Gly888Glu	p.G888E	ENST00000450689	NM_001142749.2	888	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS47632.1	2663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCCCTCA	NONE	.	.	hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	.	.	ENSP00000413445	.	19/22	.	.	.	.	.	.	.	.	rs771865743	19/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	tolerated(0.08)	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,missense_variant,p.Gly721Glu,ENST00000416314,;KIAA1324L,missense_variant,p.Gly648Glu,ENST00000297222,;KIAA1324L,missense_variant,p.Gly817Glu,ENST00000444627,;KIAA1324L,missense_variant,p.Gly849Glu,ENST00000423294,;KIAA1324L,missense_variant,p.Gly888Glu,ENST00000450689,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,upstream_gene_variant,,ENST00000480216,;	2849	121	87	SUCCESS
NDUFB9	4715	.	GRCh37	8	125551423	125551423	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs375465735	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	50	109	0	ENST00000276689.3:c.-5C>T		p.*2*	ENST00000276689	NM_001278646.1			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS6352.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGCCGTAA	NONE	byFrequency|byCluster	.	.	.	T:0.0005	ENSP00000276689	.	1/4	.	.	.	.	.	.	.	.	rs375465735	1/4	PASS	ENST00000276689	Transcript	1	.	ENSG00000147684	7704	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUB9_HUMAN	NDUFB9	HGNC	Q5JVG7_HUMAN	.	UPI000013DADB	SNV	NDUFB9,5_prime_UTR_variant,,ENST00000522532,;NDUFB9,5_prime_UTR_variant,,ENST00000518008,;TATDN1,5_prime_UTR_variant,,ENST00000523152,;NDUFB9,5_prime_UTR_variant,,ENST00000517367,;NDUFB9,5_prime_UTR_variant,,ENST00000276689,;TATDN1,upstream_gene_variant,,ENST00000517678,;TATDN1,upstream_gene_variant,,ENST00000605953,;TATDN1,upstream_gene_variant,,ENST00000522810,;TATDN1,upstream_gene_variant,,ENST00000519232,;TATDN1,upstream_gene_variant,,ENST00000276692,;TATDN1,upstream_gene_variant,,ENST00000519548,;TATDN1,upstream_gene_variant,,ENST00000523888,;TATDN1,upstream_gene_variant,,ENST00000521546,;TATDN1,upstream_gene_variant,,ENST00000522280,;NDUFB9,upstream_gene_variant,,ENST00000518657,;TATDN1,upstream_gene_variant,,ENST00000523214,;TATDN1,upstream_gene_variant,,ENST00000520938,;TATDN1,upstream_gene_variant,,ENST00000522927,;TATDN1,upstream_gene_variant,,ENST00000519776,;TATDN1,upstream_gene_variant,,ENST00000520321,;TATDN1,upstream_gene_variant,,ENST00000522310,;	80	109	214	SUCCESS
ADAM2	2515	.	GRCh37	8	39678669	39678669	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	310	78	238	0	ENST00000265708.4:c.365A>T	p.Asn122Ile	p.N122I	ENST00000265708	NM_001464.4	122	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS34884.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACATTTTCA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108,Pfam_domain:PF01562	.	.	ENSP00000265708	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000265708	Transcript	.	.	ENSG00000104755	198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ADAM2_HUMAN	ADAM2	HGNC	.	.	UPI00001254C2	SNV	ADAM2,missense_variant,p.Asn122Ile,ENST00000521880,;ADAM2,missense_variant,p.Asn122Ile,ENST00000265708,;ADAM2,missense_variant,p.Asn122Ile,ENST00000347580,;ADAM2,missense_variant,p.Asn122Ile,ENST00000379853,;ADAM2,non_coding_transcript_exon_variant,,ENST00000523181,;	469	238	388	SUCCESS
GGH	8836	.	GRCh37	8	63951328	63951328	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs756079503	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	67	62	0	ENST00000260118.6:c.-1C>T		p.*1*	ENST00000260118	NM_003878.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6177.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATGGCGCT	NONE	byFrequency	.	.	.	.	ENSP00000260118	.	1/9	.	.	.	.	.	.	.	.	rs756079503	1/9	PASS	ENST00000260118	Transcript	1	.	ENSG00000137563	4248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGH_HUMAN	GGH	HGNC	.	.	UPI000000127C	SNV	GGH,5_prime_UTR_variant,,ENST00000260118,;GGH,non_coding_transcript_exon_variant,,ENST00000518966,;GGH,non_coding_transcript_exon_variant,,ENST00000520609,;GGH,non_coding_transcript_exon_variant,,ENST00000523788,;	403	62	93	SUCCESS
PREX2	80243	.	GRCh37	8	68864433	68864433	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000288368.4:c.-197C>T		p.*66*	ENST00000288368	NM_024870.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6201.1	.	MUTECT|MUSE	.	CGCCCCCCGCG	NONE	.	.	.	.	.	ENSP00000288368	.	1/40	.	.	.	.	.	.	.	.	.	1/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,5_prime_UTR_variant,,ENST00000288368,;PREX2,upstream_gene_variant,,ENST00000517617,;PREX2,upstream_gene_variant,,ENST00000529398,;	81	12	10	SUCCESS
CHMP4C	92421	.	GRCh37	8	82644787	82644787	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	39	98	0	ENST00000297265.4:c.-75A>G		p.*25*	ENST00000297265	NM_152284.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6233.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCACCTGT	NONE	.	.	.	.	.	ENSP00000297265	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000297265	Transcript	.	.	ENSG00000164695	30599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHM4C_HUMAN	CHMP4C	HGNC	.	.	UPI000005032A	SNV	CHMP4C,5_prime_UTR_variant,,ENST00000297265,;ZFAND1,intron_variant,,ENST00000523361,;ZFAND1,upstream_gene_variant,,ENST00000520635,;ZFAND1,upstream_gene_variant,,ENST00000521742,;ZFAND1,upstream_gene_variant,,ENST00000520604,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000520941,;ZFAND1,intron_variant,,ENST00000517353,;ZFAND1,upstream_gene_variant,,ENST00000521885,;	119	98	161	SUCCESS
CNGB3	54714	.	GRCh37	8	87755757	87755757	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	178	143	0	ENST00000320005.5:c.99A>C	p.Pro33=	p.P33=	ENST00000320005	NM_019098.4	33	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6244.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTGGGTG	NONE	.	.	.	.	.	ENSP00000316605	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,synonymous_variant,p.%3D,ENST00000320005,;RP11-386D6.1,intron_variant,,ENST00000519041,;CNGB3,non_coding_transcript_exon_variant,,ENST00000519777,;	147	143	269	SUCCESS
ODF2	4957	.	GRCh37	9	131256880	131256880	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	64	173	0	ENST00000434106.3:c.1844A>G	p.Asp615Gly	p.D615G	ENST00000434106	NM_153433.1	615	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS56588.1	1844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGACCAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162	.	.	ENSP00000403453	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000434106	Transcript	.	.	ENSG00000136811	8114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	deleterious(0)	.	ODFP2_HUMAN	ODF2	HGNC	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN	.	UPI0000211922	SNV	ODF2,missense_variant,p.Asp659Gly,ENST00000372814,;ODF2,missense_variant,p.Asp35Gly,ENST00000483070,;ODF2,missense_variant,p.Asp534Gly,ENST00000448249,;ODF2,missense_variant,p.Asp610Gly,ENST00000351030,;ODF2,missense_variant,p.Asp591Gly,ENST00000393527,;ODF2,missense_variant,p.Asp615Gly,ENST00000604420,;ODF2,missense_variant,p.Asp591Gly,ENST00000444119,;ODF2,missense_variant,p.Asp615Gly,ENST00000434106,;ODF2,missense_variant,p.Asp596Gly,ENST00000372791,;ODF2,missense_variant,p.Asp596Gly,ENST00000546203,;ODF2,missense_variant,p.Asp610Gly,ENST00000372807,;ODF2,missense_variant,p.Asp615Gly,ENST00000393533,;ODF2,upstream_gene_variant,,ENST00000488909,;	2207	174	171	SUCCESS
USP20	10868	.	GRCh37	9	132638408	132638408	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	58	187	0	ENST00000315480.4:c.2301-1G>T		p.X767_splice	ENST00000315480		767		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43892.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGATTCG	NONE	.	.	.	.	.	ENSP00000313811	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	HIGH	21/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,splice_acceptor_variant,,ENST00000372429,;USP20,splice_acceptor_variant,,ENST00000358355,;USP20,splice_acceptor_variant,,ENST00000315480,;USP20,splice_acceptor_variant,,ENST00000496927,;USP20,splice_acceptor_variant,,ENST00000474895,;USP20,upstream_gene_variant,,ENST00000472108,;	.	187	156	SUCCESS
GTF3C4	9329	.	GRCh37	9	135553599	135553599	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1474103338	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	143	0	ENST00000372146.4:c.593A>G	p.Asn198Ser	p.N198S	ENST00000372146	NM_012204.2	198	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS6953.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAACAGAC	NONE	.	.	Pfam_domain:PF12657,hmmpanther:PTHR15496,hmmpanther:PTHR15496:SF1	.	.	ENSP00000361219	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000372146	Transcript	.	.	ENSG00000125484	4667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.53)	.	TF3C4_HUMAN	GTF3C4	HGNC	B3KNH2_HUMAN	.	UPI000013CBAB	SNV	GTF3C4,missense_variant,p.Asn198Ser,ENST00000372146,;GTF3C4,intron_variant,,ENST00000483873,;	1157	143	124	SUCCESS
NOL6	65083	.	GRCh37	9	33467217	33467217	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs374756474	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	48	87	0	ENST00000297990.4:c.1769G>C	p.Arg590Pro	p.R590P	ENST00000297990	NM_022917.4	590	cGg/cCg	0	T:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS6543.1	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCCGAAGC	NONE	byFrequency|byCluster	.	Pfam_domain:PF03813,hmmpanther:PTHR17972	.	T:0.0001	ENSP00000297990	.	14/26	.	.	.	.	.	.	.	.	rs374756474	14/26	PASS	ENST00000297990	Transcript	.	.	ENSG00000165271	19910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NOL6_HUMAN	NOL6	HGNC	.	.	UPI0000050326	SNV	NOL6,missense_variant,p.Arg590Pro,ENST00000297990,;NOL6,missense_variant,p.Arg590Pro,ENST00000379471,;NOL6,missense_variant,p.Arg590Pro,ENST00000353159,;NOL6,missense_variant,p.Arg538Pro,ENST00000455041,;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	1857	87	97	SUCCESS
DOCK8	81704	.	GRCh37	9	434898	434898	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759524696	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	65	0	ENST00000432829.2:c.4798G>A	p.Ala1600Thr	p.A1600T	ENST00000432829	NM_203447.3	1600	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6440.2	5002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGCCGCT	NONE	byFrequency	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74	.	.	ENSP00000408464	.	39/48	.	.	.	.	.	.	.	.	rs759524696	39/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	tolerated(0.06)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Ala1600Thr,ENST00000432829,;DOCK8,missense_variant,p.Ala1668Thr,ENST00000453981,;DOCK8,missense_variant,p.Ala1568Thr,ENST00000469391,;DOCK8,missense_variant,p.Ala1135Thr,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	5114	65	56	SUCCESS
VPS13A	23230	.	GRCh37	9	79898289	79898289	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	125	348	1	ENST00000360280.3:c.3137A>T	p.Asn1046Ile	p.N1046I	ENST00000360280	NM_033305.2	1046	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS6655.1	3137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAATGAAG	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	30/72	.	.	.	.	.	.	.	.	.	30/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.44)	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,missense_variant,p.Asn1046Ile,ENST00000357409,;VPS13A,missense_variant,p.Asn1046Ile,ENST00000376634,;VPS13A,missense_variant,p.Asn1046Ile,ENST00000360280,;VPS13A,intron_variant,,ENST00000376636,;VPS13A,non_coding_transcript_exon_variant,,ENST00000423463,;	3397	349	322	SUCCESS
PLS3	5358	.	GRCh37	X	114863611	114863611	+	synonymous_variant	Silent	SNP	C	C	T	rs1350956747	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	214	257	0	ENST00000355899.3:c.339C>T	p.Ser113=	p.S113=	ENST00000355899	NM_005032.5	113	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14568.1	339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCAGCGA	NONE	.	.	hmmpanther:PTHR19961:SF32,hmmpanther:PTHR19961,Superfamily_domains:SSF47473	.	.	ENSP00000398945	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000420625	Transcript	.	.	ENSG00000102024	9091	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLST_HUMAN	PLS3	HGNC	Q96HI1_HUMAN,B7Z6M1_HUMAN,B4DI60_HUMAN,B4DG31_HUMAN	.	UPI000000D962	SNV	PLS3,synonymous_variant,p.%3D,ENST00000289290,;PLS3,synonymous_variant,p.%3D,ENST00000420625,;PLS3,synonymous_variant,p.%3D,ENST00000355899,;PLS3,synonymous_variant,p.%3D,ENST00000537301,;PLS3,synonymous_variant,p.%3D,ENST00000539310,;PLS3,intron_variant,,ENST00000473026,;PLS3,3_prime_UTR_variant,,ENST00000481823,;PLS3,3_prime_UTR_variant,,ENST00000489283,;	473	257	255	SUCCESS
GPR112	0	.	GRCh37	X	135443733	135443733	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	161	204	0	ENST00000370652.1:c.7264G>T	p.Ala2422Ser	p.A2422S	ENST00000370652		2422	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS35409.1	7264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGCCACA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Ala2220Ser,ENST00000287534,;GPR112,missense_variant,p.Ala2422Ser,ENST00000370652,;GPR112,missense_variant,p.Ala2422Ser,ENST00000394143,;GPR112,missense_variant,p.Ala2217Ser,ENST00000394141,;GPR112,missense_variant,p.Ala2217Ser,ENST00000412101,;	7555	204	202	SUCCESS
DUSP9	1852	.	GRCh37	X	152915517	152915517	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	59	80	0	ENST00000342782.3:c.912C>T	p.Tyr304=	p.Y304=	ENST00000342782		304	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS14724.1	912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTACCTCAT	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF44,hmmpanther:PTHR10159,Pfam_domain:PF00782,Gene3D:3.90.190.10,SMART_domains:SM00195,PIRSF_domain:PIRSF000939,Superfamily_domains:SSF52799	.	.	ENSP00000345853	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000342782	Transcript	.	.	ENSG00000130829	3076	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS9_HUMAN	DUSP9	HGNC	P78512_HUMAN	.	UPI0000049C1B	SNV	DUSP9,synonymous_variant,p.%3D,ENST00000370167,;DUSP9,synonymous_variant,p.%3D,ENST00000342782,;DUSP9,downstream_gene_variant,,ENST00000477033,;	1177	80	78	SUCCESS
FAM120C	54954	.	GRCh37	X	54185860	54185862	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	25	93	145	0	ENST00000375180.2:c.887_889del	p.Glu296del	p.E296del	ENST00000375180	NM_017848.4	296	gAAGta/gta	0	.	.	.	.	.	-	EV/V	protein_coding	YES	CCDS14356.1	887-889	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCTACTTCTTGC	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF15,Superfamily_domains:SSF88723	.	.	ENSP00000364324	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000375180	Transcript	.	.	ENSG00000184083	16949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F120C_HUMAN	FAM120C	HGNC	.	.	UPI000022DC3D	deletion	FAM120C,inframe_deletion,p.Glu296del,ENST00000375180,;FAM120C,inframe_deletion,p.Glu296del,ENST00000328235,;	944-946	145	118	SUCCESS
CPXCR1	53336	.	GRCh37	X	88008450	88008450	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	184	289	0	ENST00000276127.4:c.35C>T	p.Ala12Val	p.A12V	ENST00000276127	NM_033048.5	12	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14458.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCTGGAA	NONE	.	.	.	.	.	ENSP00000276127	.	3/3	.	.	.	.	.	.	.	.	COSM197778	3/3	PASS	ENST00000276127	Transcript	.	.	ENSG00000147183	2332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.031)	.	tolerated(0.11)	1	CPXCR_HUMAN	CPXCR1	HGNC	.	.	UPI000007369F	SNV	CPXCR1,missense_variant,p.Ala12Val,ENST00000276127,;CPXCR1,missense_variant,p.Ala12Val,ENST00000373111,;	294	289	215	SUCCESS
SORCS3	22986	.	GRCh37	10	106937819	106937819	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	126	0	ENST00000369699.4:c.-139C>A		p.*47*	ENST00000369699				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7558.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACACAGG	NONE	.	.	.	.	.	ENSP00000358715	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	LOW	13/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,splice_region_variant,,ENST00000393176,;SORCS3,splice_region_variant,,ENST00000369701,;SORCS3,5_prime_UTR_variant,,ENST00000369699,;	.	126	93	SUCCESS
THNSL1	79896	.	GRCh37	10	25312662	25312662	+	synonymous_variant	Silent	SNP	A	A	T	rs755826196	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	70	0	ENST00000376356.4:c.510A>T	p.Thr170=	p.T170=	ENST00000376356	NM_024838.4	170	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7147.1	510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAGATAG	NONE	byFrequency	.	HAMAP:MF_00109,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF1,Gene3D:3.40.50.300,Pfam_domain:PF01202,Superfamily_domains:SSF52540	.	.	ENSP00000434887	.	3/3	.	.	.	.	.	.	.	.	rs755826196	3/3	PASS	ENST00000524413	Transcript	.	.	ENSG00000185875	26160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THNS1_HUMAN	THNSL1	HGNC	Q9H6P9_HUMAN,Q8N9J5_HUMAN	.	UPI00001F9045	SNV	THNSL1,synonymous_variant,p.%3D,ENST00000524413,;THNSL1,synonymous_variant,p.%3D,ENST00000376356,;	857	70	53	SUCCESS
LDB3	11155	.	GRCh37	10	88428477	88428477	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	111	0	ENST00000361373.4:c.29C>A	p.Pro10His	p.P10H	ENST00000361373	NM_007078.2	10	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS53550.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCCGGGC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24214:SF9,hmmpanther:PTHR24214,Gene3D:2.30.42.10,Pfam_domain:PF00595,Superfamily_domains:SSF50156	.	.	ENSP00000401437	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,missense_variant,p.Pro10His,ENST00000372056,;LDB3,missense_variant,p.Pro10His,ENST00000372066,;LDB3,missense_variant,p.Pro10His,ENST00000361373,;LDB3,missense_variant,p.Pro10His,ENST00000458213,;LDB3,missense_variant,p.Pro10His,ENST00000352360,;LDB3,missense_variant,p.Pro10His,ENST00000542786,;LDB3,missense_variant,p.Pro10His,ENST00000310944,;LDB3,missense_variant,p.Pro10His,ENST00000429277,;LDB3,missense_variant,p.Pro10His,ENST00000263066,;OPN4,downstream_gene_variant,,ENST00000241891,;OPN4,downstream_gene_variant,,ENST00000443292,;OPN4,downstream_gene_variant,,ENST00000372071,;	174	111	82	SUCCESS
ATM	472	.	GRCh37	11	108117798	108117798	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138398778	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	62	227	0	ENST00000278616.4:c.1009C>T	p.Arg337Cys	p.R337C	ENST00000278616	NM_000051.3	337	Cgt/Tgt	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS31669.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	GATTTCGTAAT	SITE|p.R337C|c.1009C>T|16,SITE|p.R337C|c.1009C>T|12,BUFFER|p.R337H|c.1010G>A|9,BUFFER|p.R337H|c.1010G>A|10	byCluster	.	Superfamily_domains:SSF48371,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	T:0.0001	ENSP00000278616	.	8/63	.	.	.	.	.	.	.	.	CM0910483,rs138398778,COSM21323,COSM21931,COSM1350749	8/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,0,1,1,1	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Arg337Cys,ENST00000278616,;ATM,missense_variant,p.Arg337Cys,ENST00000527805,;ATM,missense_variant,p.Arg337Cys,ENST00000452508,;ATM,downstream_gene_variant,,ENST00000527891,;	1394	227	195	SUCCESS
ROBO3	64221	.	GRCh37	11	124743649	124743649	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769780811	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	65	0	ENST00000397801.1:c.1675C>T	p.Pro559Ser	p.P559S	ENST00000397801	NM_022370.3	559	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44755.1	1675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCCCTCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000380903	.	11/28	.	.	.	.	.	.	.	.	rs769780811	11/28	PASS	ENST00000397801	Transcript	.	.	ENSG00000154134	13433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ROBO3_HUMAN	ROBO3	HGNC	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN	.	UPI000035AA82	SNV	ROBO3,missense_variant,p.Pro537Ser,ENST00000538940,;ROBO3,missense_variant,p.Pro559Ser,ENST00000397801,;ROBO3,upstream_gene_variant,,ENST00000543966,;ROBO3,upstream_gene_variant,,ENST00000525482,;ROBO3,upstream_gene_variant,,ENST00000531075,;ROBO3,upstream_gene_variant,,ENST00000528144,;ROBO3,upstream_gene_variant,,ENST00000531545,;ROBO3,upstream_gene_variant,,ENST00000532472,;ROBO3,upstream_gene_variant,,ENST00000528820,;ROBO3,upstream_gene_variant,,ENST00000526551,;ROBO3,upstream_gene_variant,,ENST00000525304,;ROBO3,upstream_gene_variant,,ENST00000534598,;ROBO3,upstream_gene_variant,,ENST00000527196,;ROBO3,upstream_gene_variant,,ENST00000529658,;ROBO3,upstream_gene_variant,,ENST00000528068,;ROBO3,upstream_gene_variant,,ENST00000530647,;ROBO3,upstream_gene_variant,,ENST00000531119,;ROBO3,upstream_gene_variant,,ENST00000531888,;ROBO3,upstream_gene_variant,,ENST00000527245,;ROBO3,upstream_gene_variant,,ENST00000525448,;ROBO3,upstream_gene_variant,,ENST00000524971,;	1867	65	62	SUCCESS
ROBO3	64221	.	GRCh37	11	124747371	124747371	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	128	0	ENST00000397801.1:c.2847-44C>G		p.*949*	ENST00000397801	NM_022370.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44755.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCTCTTC	NONE	.	.	.	.	.	ENSP00000380903	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397801	Transcript	.	.	ENSG00000154134	13433	.	.	MODIFIER	19/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO3_HUMAN	ROBO3	HGNC	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN	.	UPI000035AA82	SNV	ROBO3,5_prime_UTR_variant,,ENST00000543966,;ROBO3,intron_variant,,ENST00000538940,;ROBO3,intron_variant,,ENST00000397801,;ROBO3,intron_variant,,ENST00000525482,;ROBO3,intron_variant,,ENST00000531075,;ROBO3,intron_variant,,ENST00000528144,;ROBO3,intron_variant,,ENST00000531545,;ROBO3,intron_variant,,ENST00000532472,;ROBO3,intron_variant,,ENST00000528820,;ROBO3,intron_variant,,ENST00000526551,;ROBO3,non_coding_transcript_exon_variant,,ENST00000531888,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,intron_variant,,ENST00000534598,;ROBO3,intron_variant,,ENST00000527196,;ROBO3,intron_variant,,ENST00000529658,;ROBO3,intron_variant,,ENST00000528068,;ROBO3,intron_variant,,ENST00000530647,;ROBO3,intron_variant,,ENST00000531119,;ROBO3,intron_variant,,ENST00000525448,;ROBO3,upstream_gene_variant,,ENST00000525304,;ROBO3,upstream_gene_variant,,ENST00000524971,;	.	128	90	SUCCESS
MUC5B	727897	.	GRCh37	11	1275529	1275529	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	44	0	ENST00000529681.1:c.15425C>A	p.Ser5142Tyr	p.S5142Y	ENST00000529681	NM_002458.2	5142	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44515.2	15425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCATGG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000436812	.	34/49	.	.	.	.	.	.	.	.	.	34/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ser5142Tyr,ENST00000529681,;MUC5B,missense_variant,p.Ser5145Tyr,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000526859,;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	15483	44	45	SUCCESS
BARX2	8538	.	GRCh37	11	129306802	129306802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	15	152	0	ENST00000281437.4:c.344C>A	p.Ala115Asp	p.A115D	ENST00000281437	NM_003658.4	115	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS8481.1	344	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCCCTAG	NONE	.	.	Gene3D:1.10.10.60,hmmpanther:PTHR24330:SF7,hmmpanther:PTHR24330	.	.	ENSP00000281437	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000281437	Transcript	.	.	ENSG00000043039	956	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.081)	.	tolerated(0.17)	.	BARX2_HUMAN	BARX2	HGNC	G3V397_HUMAN	.	UPI000013DC78	SNV	BARX2,missense_variant,p.Ala115Asp,ENST00000281437,;BARX2,5_prime_UTR_variant,,ENST00000526127,;BARX2,non_coding_transcript_exon_variant,,ENST00000605151,;	440	152	158	SUCCESS
ELP4	26610	.	GRCh37	11	31653846	31653846	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	115	0	ENST00000350638.5:c.821A>C	p.Asn274Thr	p.N274T	ENST00000350638	NM_019040.3	274	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS7875.2	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAATGGTG	NONE	.	.	hmmpanther:PTHR12896:SF1,hmmpanther:PTHR12896,Pfam_domain:PF05625	.	.	ENSP00000298937	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000350638	Transcript	.	.	ENSG00000109911	1171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.32)	.	ELP4_HUMAN	ELP4	HGNC	Q9H4R8_HUMAN	.	UPI0000074047	SNV	ELP4,missense_variant,p.Asn275Thr,ENST00000379163,;ELP4,missense_variant,p.Asn274Thr,ENST00000395934,;ELP4,missense_variant,p.Asn274Thr,ENST00000350638,;ELP4,3_prime_UTR_variant,,ENST00000474374,;	856	115	102	SUCCESS
IFITM3	10410	.	GRCh37	11	320798	320798	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs767406179	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	40	0	ENST00000399808.4:c.16C>T	p.Gln6Ter	p.Q6*	ENST00000399808	NM_021034.2	6	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS41585.1	16	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTGGACAG	NONE	.	.	hmmpanther:PTHR13999:SF8,hmmpanther:PTHR13999	.	.	ENSP00000382707	.	1/2	.	.	.	.	.	.	.	.	rs767406179	1/2	PASS	ENST00000399808	Transcript	.	.	ENSG00000142089	5414	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IFM3_HUMAN	IFITM3	HGNC	E9PS44_HUMAN	.	UPI00000465C0	SNV	IFITM3,stop_gained,p.Gln6Ter,ENST00000399808,;IFITM3,intron_variant,,ENST00000526811,;IFITM3,intron_variant,,ENST00000602735,;RP11-326C3.14,downstream_gene_variant,,ENST00000602809,;RP11-326C3.13,downstream_gene_variant,,ENST00000602949,;RP11-326C3.11,intron_variant,,ENST00000602756,;RP11-326C3.11,intron_variant,,ENST00000602429,;RP11-326C3.10,upstream_gene_variant,,ENST00000534271,;RP11-326C3.11,downstream_gene_variant,,ENST00000508004,;IFITM3,upstream_gene_variant,,ENST00000531688,;	253	40	28	SUCCESS
ATP2A2	488	.	GRCh37	12	110778773	110778773	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	34	138	0	ENST00000539276.2:c.2071C>T	p.Gln691Ter	p.Q691*	ENST00000539276		691	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS9144.1	2071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCAGTCT	NONE	.	.	hmmpanther:PTHR24093:SF234,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01116,Pfam_domain:PF00702,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784	.	.	ENSP00000440045	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000539276	Transcript	.	.	ENSG00000174437	812	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2A2_HUMAN	ATP2A2	HGNC	.	.	UPI0000001C3A	SNV	ATP2A2,stop_gained,p.Gln582Ter,ENST00000548169,;ATP2A2,stop_gained,p.Gln691Ter,ENST00000308664,;ATP2A2,stop_gained,p.Gln664Ter,ENST00000395494,;ATP2A2,stop_gained,p.Gln691Ter,ENST00000539276,;ATP2A2,3_prime_UTR_variant,,ENST00000377685,;ATP2A2,upstream_gene_variant,,ENST00000313432,;ATP2A2,upstream_gene_variant,,ENST00000547792,;	2180	138	127	SUCCESS
IQSEC3	440073	.	GRCh37	12	248119	248119	+	synonymous_variant	Silent	SNP	C	C	A	rs548532490	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	63	0	ENST00000538872.1:c.1590C>A	p.Gly530=	p.G530=	ENST00000538872		530	ggC/ggA	0	.	T:0	.	T:0	.	A	G	protein_coding	YES	CCDS53728.1	1590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCGAGAC	NONE	by1000G	.	hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663	T:0	.	ENSP00000437554	T:0	4/14	.	.	.	.	.	.	.	.	rs548532490	4/14	PASS	ENST00000538872	Transcript	.	T:0.0002	ENSG00000120645	29193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	IQEC3_HUMAN	IQSEC3	HGNC	.	.	UPI0000DBEEF0	SNV	IQSEC3,synonymous_variant,p.%3D,ENST00000538872,;IQSEC3,synonymous_variant,p.%3D,ENST00000382841,;IQSEC3,synonymous_variant,p.%3D,ENST00000326261,;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	1708	63	64	SUCCESS
SLC6A12	6539	.	GRCh37	12	301770	301770	+	synonymous_variant	Silent	SNP	G	G	A	rs1231446451	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	51	164	0	ENST00000359674.4:c.1575C>T	p.Tyr525=	p.Y525=	ENST00000359674	NM_001122847.2	525	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS8501.1	1575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTGTACTT	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF118,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000388184	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000428720	Transcript	.	.	ENSG00000111181	11045	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A12_HUMAN	SLC6A12	HGNC	F5H2T6_HUMAN,B3KTU1_HUMAN	.	UPI000013C8DB	SNV	SLC6A12,synonymous_variant,p.%3D,ENST00000536824,;SLC6A12,synonymous_variant,p.%3D,ENST00000359674,;SLC6A12,synonymous_variant,p.%3D,ENST00000397296,;SLC6A12,synonymous_variant,p.%3D,ENST00000428720,;SLC6A12,synonymous_variant,p.%3D,ENST00000424061,;RP11-283I3.1,upstream_gene_variant,,ENST00000544067,;SLC6A12,downstream_gene_variant,,ENST00000535498,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000545058,;SLC6A12,downstream_gene_variant,,ENST00000542825,;SLC6A12,downstream_gene_variant,,ENST00000544782,;	2319	164	181	SUCCESS
TROAP	10024	.	GRCh37	12	49725143	49725143	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	69	0	ENST00000257909.3:c.2245G>C	p.Val749Leu	p.V749L	ENST00000257909	NM_005480.3	749	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS8784.1	2245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGTCTGC	NONE	.	.	hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3	.	.	ENSP00000257909	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000257909	Transcript	.	.	ENSG00000135451	12327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	tolerated(0.13)	.	TROAP_HUMAN	TROAP	HGNC	F8W052_HUMAN	.	UPI000007108A	SNV	TROAP,missense_variant,p.Val839Leu,ENST00000551245,;TROAP,missense_variant,p.Val428Leu,ENST00000547923,;TROAP,missense_variant,p.Val749Leu,ENST00000257909,;C1QL4,downstream_gene_variant,,ENST00000334221,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;	2321	69	87	SUCCESS
PFDN5	5204	.	GRCh37	12	53691669	53691669	+	synonymous_variant	Silent	SNP	C	C	T	rs1032639570	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	8	111	0	ENST00000334478.4:c.243C>T	p.His81=	p.H81=	ENST00000334478		81	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS8853.1	243	MUTECT|MUSE|VARSCANS	.	GAACACGTGCT	NONE	.	.	HAMAP:MF_00308,hmmpanther:PTHR12674,Pfam_domain:PF02996,Gene3D:1.10.287.370,TIGRFAM_domain:TIGR00293,Superfamily_domains:SSF46579	.	.	ENSP00000447942	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000551018	Transcript	.	.	ENSG00000123349	8869	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PFD5_HUMAN	PFDN5	HGNC	.	.	UPI00000009FD	SNV	PFDN5,synonymous_variant,p.%3D,ENST00000334478,;PFDN5,synonymous_variant,p.%3D,ENST00000351500,;PFDN5,synonymous_variant,p.%3D,ENST00000551018,;PFDN5,synonymous_variant,p.%3D,ENST00000549759,;PFDN5,intron_variant,,ENST00000550846,;C12orf10,upstream_gene_variant,,ENST00000549488,;ESPL1,downstream_gene_variant,,ENST00000552462,;ESPL1,downstream_gene_variant,,ENST00000257934,;C12orf10,upstream_gene_variant,,ENST00000548632,;C12orf10,upstream_gene_variant,,ENST00000267103,;RP11-680A11.5,downstream_gene_variant,,ENST00000550263,;PFDN5,3_prime_UTR_variant,,ENST00000547130,;PFDN5,3_prime_UTR_variant,,ENST00000243040,;PFDN5,3_prime_UTR_variant,,ENST00000552742,;PFDN5,3_prime_UTR_variant,,ENST00000550880,;PFDN5,non_coding_transcript_exon_variant,,ENST00000553171,;PFDN5,non_coding_transcript_exon_variant,,ENST00000552341,;PFDN5,non_coding_transcript_exon_variant,,ENST00000550964,;PFDN5,non_coding_transcript_exon_variant,,ENST00000552548,;PFDN5,non_coding_transcript_exon_variant,,ENST00000548984,;PFDN5,non_coding_transcript_exon_variant,,ENST00000550513,;PFDN5,downstream_gene_variant,,ENST00000549995,;C12orf10,upstream_gene_variant,,ENST00000551670,;PFDN5,downstream_gene_variant,,ENST00000547228,;ESPL1,downstream_gene_variant,,ENST00000549154,;C12orf10,upstream_gene_variant,,ENST00000548845,;PFDN5,downstream_gene_variant,,ENST00000550069,;PFDN5,downstream_gene_variant,,ENST00000551223,;C12orf10,upstream_gene_variant,,ENST00000551131,;ESPL1,downstream_gene_variant,,ENST00000552671,;	520	111	91	SUCCESS
SP1	6667	.	GRCh37	12	53776141	53776141	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	125	0	ENST00000327443.4:c.410C>T	p.Ser137Phe	p.S137F	ENST00000327443	NM_138473.2	137	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS8857.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCCAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23235:SF4,hmmpanther:PTHR23235	.	.	ENSP00000329357	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000327443	Transcript	.	.	ENSG00000185591	11205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0.03)	.	SP1_HUMAN	SP1	HGNC	G5E9M8_HUMAN,Q9NR52_HUMAN,H3BVI2_HUMAN,C4PGM0_HUMAN	.	UPI0000135D4E	SNV	SP1,missense_variant,p.Ser130Phe,ENST00000426431,;SP1,missense_variant,p.Ser130Phe,ENST00000548560,;SP1,missense_variant,p.Ser137Phe,ENST00000327443,;SP1,missense_variant,p.Ser89Phe,ENST00000551969,;	508	125	93	SUCCESS
ZFYVE1	53349	.	GRCh37	14	73491249	73491249	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	45	0	ENST00000556143.1:c.-33A>G		p.*11*	ENST00000556143	NM_021260.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9811.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATATAATAG	NONE	.	.	.	.	.	ENSP00000450742	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000556143	Transcript	.	.	ENSG00000165861	13180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFYV1_HUMAN	ZFYVE1	HGNC	.	.	UPI0000049888	SNV	ZFYVE1,5_prime_UTR_variant,,ENST00000553891,;ZFYVE1,5_prime_UTR_variant,,ENST00000318876,;ZFYVE1,5_prime_UTR_variant,,ENST00000556143,;	689	45	25	SUCCESS
ABCD4	5826	.	GRCh37	14	74769675	74769675	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	10	240	0	ENST00000356924.4:c.-60G>T		p.*20*	ENST00000356924	NM_005050.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9828.1	.	MUTECT|MUSE	.	AGAGTCCGAGG	NONE	.	.	.	.	.	ENSP00000349396	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000356924	Transcript	.	.	ENSG00000119688	68	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCD4_HUMAN	ABCD4	HGNC	.	.	UPI000004C4C8	SNV	ABCD4,5_prime_UTR_variant,,ENST00000557588,;ABCD4,5_prime_UTR_variant,,ENST00000356924,;ABCD4,upstream_gene_variant,,ENST00000298816,;VRTN,upstream_gene_variant,,ENST00000557177,;ABCD4,upstream_gene_variant,,ENST00000556971,;ABCD4,non_coding_transcript_exon_variant,,ENST00000557554,;ABCD4,non_coding_transcript_exon_variant,,ENST00000489207,;ABCD4,5_prime_UTR_variant,,ENST00000460308,;ABCD4,5_prime_UTR_variant,,ENST00000469672,;ABCD4,non_coding_transcript_exon_variant,,ENST00000493752,;ABCD4,non_coding_transcript_exon_variant,,ENST00000493427,;ABCD4,non_coding_transcript_exon_variant,,ENST00000477803,;ABCD4,upstream_gene_variant,,ENST00000553745,;ABCD4,upstream_gene_variant,,ENST00000470637,;ABCD4,upstream_gene_variant,,ENST00000554453,;ABCD4,upstream_gene_variant,,ENST00000556119,;ABCD4,upstream_gene_variant,,ENST00000553486,;ABCD4,upstream_gene_variant,,ENST00000475240,;ABCD4,upstream_gene_variant,,ENST00000481935,;ABCD4,upstream_gene_variant,,ENST00000555617,;ABCD4,upstream_gene_variant,,ENST00000489678,;SUB1P2,upstream_gene_variant,,ENST00000556401,;	85	240	143	SUCCESS
DMXL2	23312	.	GRCh37	15	51834633	51834633	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	101	1	ENST00000251076.5:c.1002A>G	p.Leu334=	p.L334=	ENST00000251076	NM_015263.3	334	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS53946.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATTAATTC	NONE	.	.	hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	9/43	.	.	.	.	.	.	.	.	.	9/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,synonymous_variant,p.%3D,ENST00000449909,;DMXL2,synonymous_variant,p.%3D,ENST00000543779,;DMXL2,synonymous_variant,p.%3D,ENST00000251076,;DMXL2,downstream_gene_variant,,ENST00000560421,;	1092	102	99	SUCCESS
AQP9	366	.	GRCh37	15	58430833	58430833	+	synonymous_variant	Silent	SNP	G	G	A	rs370186994	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	45	143	0	ENST00000219919.4:c.69G>A	p.Ala23=	p.A23=	ENST00000219919	NM_020980.3	23	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS10165.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCGAAAGA	NONE	byCluster	.	Prints_domain:PR02021,Superfamily_domains:SSF81338,Gene3D:1.20.1080.10,Pfam_domain:PF00230,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF15	.	A:0.0001	ENSP00000219919	.	1/6	.	.	.	.	.	.	.	.	rs370186994	1/6	PASS	ENST00000219919	Transcript	.	.	ENSG00000103569	643	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQP9_HUMAN	AQP9	HGNC	H0YK62_HUMAN	.	UPI000013C796	SNV	AQP9,synonymous_variant,p.%3D,ENST00000536493,;AQP9,synonymous_variant,p.%3D,ENST00000219919,;ALDH1A2,5_prime_UTR_variant,,ENST00000557967,;AQP9,intron_variant,,ENST00000558772,;ALDH1A2,intron_variant,,ENST00000558231,;ALDH1A2,intron_variant,,ENST00000558239,;AQP9,non_coding_transcript_exon_variant,,ENST00000559443,;ALDH1A2,intron_variant,,ENST00000560122,;ALDH1A2,intron_variant,,ENST00000558073,;ALDH1A2,intron_variant,,ENST00000558504,;ALDH1A2,intron_variant,,ENST00000560863,;ALDH1A2,intron_variant,,ENST00000559297,;	439	143	136	SUCCESS
IGDCC4	57722	.	GRCh37	15	65702586	65702586	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	51	0	ENST00000352385.2:c.493C>T	p.His165Tyr	p.H165Y	ENST00000352385	NM_020962.1	165	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS10206.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTGGCACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000319623	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.12)	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,missense_variant,p.His165Tyr,ENST00000352385,;IGDCC4,downstream_gene_variant,,ENST00000558819,;	703	51	27	SUCCESS
SLC24A1	9187	.	GRCh37	15	65943145	65943145	+	synonymous_variant	Silent	SNP	G	G	A	rs1412441845	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	103	1	ENST00000261892.6:c.2658G>A	p.Glu886=	p.E886=	ENST00000261892	NM_004727.2	886	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS45284.1	2658	MUTECT|MUSE	.	GAGGAGGAAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF6,TIGRFAM_domain:TIGR00367	.	.	ENSP00000261892	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000261892	Transcript	1	.	ENSG00000074621	10975	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCKX1_HUMAN	SLC24A1	HGNC	.	.	UPI000013020C	SNV	SLC24A1,synonymous_variant,p.%3D,ENST00000546330,;SLC24A1,synonymous_variant,p.%3D,ENST00000399033,;SLC24A1,synonymous_variant,p.%3D,ENST00000544319,;SLC24A1,synonymous_variant,p.%3D,ENST00000339868,;SLC24A1,synonymous_variant,p.%3D,ENST00000537259,;SLC24A1,synonymous_variant,p.%3D,ENST00000261892,;SLC24A1,upstream_gene_variant,,ENST00000505666,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000449142,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000434116,;SLC24A1,downstream_gene_variant,,ENST00000539516,;	2945	104	79	SUCCESS
DNAJA4	55466	.	GRCh37	15	78568034	78568034	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	66	0	ENST00000343789.3:c.841T>C	p.Leu281=	p.L281=	ENST00000343789		281	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10299.2	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATTGGAC	BUFFER|p.R284Q|c.851G>A|4,BUFFER|p.R257Q|c.770G>A|4	.	.	HAMAP:MF_01152,hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF75,Gene3D:2.60.260.20,Pfam_domain:PF01556,Superfamily_domains:SSF49493	.	.	ENSP00000378324	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000394855	Transcript	.	.	ENSG00000140403	14885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJA4_HUMAN	DNAJA4	HGNC	Q8N2A9_HUMAN,Q7Z4D5_HUMAN,C9JDE6_HUMAN	.	UPI00001FE98C	SNV	DNAJA4,synonymous_variant,p.%3D,ENST00000394855,;DNAJA4,synonymous_variant,p.%3D,ENST00000394852,;DNAJA4,synonymous_variant,p.%3D,ENST00000343789,;DNAJA4,synonymous_variant,p.%3D,ENST00000446172,;WDR61,downstream_gene_variant,,ENST00000558453,;WDR61,downstream_gene_variant,,ENST00000560807,;DNAJA4,3_prime_UTR_variant,,ENST00000483802,;DNAJA4,3_prime_UTR_variant,,ENST00000440911,;DNAJA4,3_prime_UTR_variant,,ENST00000542636,;DNAJA4,non_coding_transcript_exon_variant,,ENST00000493321,;DNAJA4,downstream_gene_variant,,ENST00000485075,;DNAJA4,upstream_gene_variant,,ENST00000480425,;DNAJA4,downstream_gene_variant,,ENST00000423642,;	1156	66	59	SUCCESS
RGMA	56963	.	GRCh37	15	93588470	93588470	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	32	120	0	ENST00000329082.7:c.1111G>T	p.Glu371Ter	p.E371*	ENST00000329082	NM_020211.2	371	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS53974.1	1135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTCCACCG	NONE	.	.	Pfam_domain:PF06534,hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF4	.	.	ENSP00000452126	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000557301	Transcript	.	.	ENSG00000182175	30308	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RGMA	HGNC	G3V518_HUMAN,G3V4C2_HUMAN,F5H7G2_HUMAN,F5GZU6_HUMAN	.	UPI0002065681	SNV	RGMA,stop_gained,p.Glu262Ter,ENST00000538818,;RGMA,stop_gained,p.Glu379Ter,ENST00000557301,;RGMA,stop_gained,p.Glu262Ter,ENST00000556658,;RGMA,stop_gained,p.Glu371Ter,ENST00000329082,;RGMA,stop_gained,p.Glu355Ter,ENST00000425933,;RGMA,stop_gained,p.Glu355Ter,ENST00000542321,;RGMA,stop_gained,p.Glu355Ter,ENST00000543599,;RGMA,3_prime_UTR_variant,,ENST00000557420,;RGMA,3_prime_UTR_variant,,ENST00000554387,;	1242	120	107	SUCCESS
GNPTG	84572	.	GRCh37	16	1411878	1411878	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	60	0	ENST00000204679.4:c.239A>C	p.Lys80Thr	p.K80T	ENST00000204679	NM_032520.4	80	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS10436.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAAGTATG	NONE	.	.	hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6,Pfam_domain:PF13015,Superfamily_domains:SSF50911	.	.	ENSP00000204679	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000204679	Transcript	.	.	ENSG00000090581	23026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	deleterious(0)	.	GNPTG_HUMAN	GNPTG	HGNC	Q96RZ2_HUMAN	.	UPI0000073F3C	SNV	GNPTG,missense_variant,p.Lys103Thr,ENST00000529110,;GNPTG,missense_variant,p.Lys80Thr,ENST00000204679,;UNKL,downstream_gene_variant,,ENST00000248104,;UNKL,downstream_gene_variant,,ENST00000403703,;UNKL,downstream_gene_variant,,ENST00000402641,;UNKL,downstream_gene_variant,,ENST00000397464,;UNKL,downstream_gene_variant,,ENST00000508903,;UNKL,downstream_gene_variant,,ENST00000391893,;UNKL,downstream_gene_variant,,ENST00000389221,;LA16c-316G12.2,upstream_gene_variant,,ENST00000569831,;UNKL,downstream_gene_variant,,ENST00000562537,;GNPTG,3_prime_UTR_variant,,ENST00000526820,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527076,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527168,;GNPTG,non_coding_transcript_exon_variant,,ENST00000529957,;UNKL,downstream_gene_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000527876,;GNPTG,downstream_gene_variant,,ENST00000534197,;	282	60	40	SUCCESS
SLC9A3R2	9351	.	GRCh37	16	2086328	2086328	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375612309	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	64	0	ENST00000424542.2:c.418G>A	p.Val140Ile	p.V140I	ENST00000424542	NM_001130012.2	140	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS45382.1	418	MUTECT|MUSE	.	AGGATGTCAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14191:SF4,hmmpanther:PTHR14191,PIRSF_domain:PIRSF037866	.	.	ENSP00000408005	.	3/7	.	.	.	.	.	.	.	.	rs375612309	3/7	PASS	ENST00000424542	Transcript	.	.	ENSG00000065054	11076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.28)	.	NHRF2_HUMAN	SLC9A3R2	HGNC	Q6NTG0_HUMAN,H3BQS0_HUMAN	.	UPI0000070578	SNV	SLC9A3R2,missense_variant,p.Val34Ile,ENST00000563587,;SLC9A3R2,missense_variant,p.Val140Ile,ENST00000432365,;SLC9A3R2,missense_variant,p.Val12Ile,ENST00000561844,;SLC9A3R2,missense_variant,p.Val131Ile,ENST00000567504,;SLC9A3R2,missense_variant,p.Val27Ile,ENST00000565855,;SLC9A3R2,missense_variant,p.Val140Ile,ENST00000424542,;SLC9A3R2,missense_variant,p.Val29Ile,ENST00000566198,;NTHL1,downstream_gene_variant,,ENST00000566380,;NTHL1,downstream_gene_variant,,ENST00000219066,;SLC9A3R2,non_coding_transcript_exon_variant,,ENST00000565086,;NTHL1,downstream_gene_variant,,ENST00000562951,;SLC9A3R2,non_coding_transcript_exon_variant,,ENST00000564033,;NTHL1,downstream_gene_variant,,ENST00000568513,;NTHL1,downstream_gene_variant,,ENST00000561841,;NTHL1,downstream_gene_variant,,ENST00000561862,;NTHL1,downstream_gene_variant,,ENST00000565406,;NTHL1,downstream_gene_variant,,ENST00000567727,;	556	64	44	SUCCESS
HEATR3	55027	.	GRCh37	16	50106513	50106513	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	22	173	0	ENST00000299192.7:c.513-3T>C		p.X171_splice	ENST00000299192	NM_182922.2	171		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10739.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTTAGTGA	NONE	.	.	.	.	.	ENSP00000299192	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	LOW	4/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,splice_region_variant,,ENST00000299192,;HEATR3,splice_region_variant,,ENST00000285767,;HEATR3,downstream_gene_variant,,ENST00000561819,;	.	173	143	SUCCESS
MYH1	4619	.	GRCh37	17	10397950	10397950	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376702386	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	98	1	ENST00000226207.5:c.5507G>A	p.Arg1836His	p.R1836H	ENST00000226207	NM_005963.3	1836	cGc/cAc	0	T:0	T:0.0008	.	T:0	.	T	R/H	protein_coding	YES	CCDS11155.1	5507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCGCTTC	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF57997	T:0	T:0.0001	ENSP00000226207	T:0	38/40	.	.	.	.	.	.	.	.	rs376702386	38/40	PASS	ENST00000226207	Transcript	.	T:0.0002	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	T:0	deleterious(0.03)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Arg1836His,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5602	99	39	SUCCESS
PSMD3	5709	.	GRCh37	17	38137181	38137181	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	55	0	ENST00000264639.4:c.-43G>T		p.*15*	ENST00000264639	NM_002809.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11356.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGGCCCCG	NONE	.	.	.	.	.	ENSP00000264639	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000264639	Transcript	.	.	ENSG00000108344	9560	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMD3_HUMAN	PSMD3	HGNC	Q96N86_HUMAN,B3KNN7_HUMAN	.	UPI0000001062	SNV	PSMD3,5_prime_UTR_variant,,ENST00000541736,;PSMD3,5_prime_UTR_variant,,ENST00000264639,;GSDMA,downstream_gene_variant,,ENST00000301659,;PSMD3,5_prime_UTR_variant,,ENST00000415039,;	132	55	67	SUCCESS
CDC27	996	.	GRCh37	17	45219595	45219595	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	73	261	0	ENST00000066544.3:c.1378G>T	p.Glu460Ter	p.E460*	ENST00000066544	NM_001256.3	460	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS45720.1	1396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCTGCTG	NONE	.	.	Superfamily_domains:SSF48452,hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF11	.	.	ENSP00000434614	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000531206	Transcript	.	.	ENSG00000004897	1728	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDC27_HUMAN	CDC27	HGNC	I0EZ72_HUMAN,I0EZ68_HUMAN	.	UPI0000E59FE6	SNV	CDC27,stop_gained,p.Glu460Ter,ENST00000066544,;CDC27,stop_gained,p.Glu466Ter,ENST00000531206,;CDC27,stop_gained,p.Glu399Ter,ENST00000446365,;CDC27,missense_variant,p.Gly460Cys,ENST00000527547,;CDC27,upstream_gene_variant,,ENST00000571643,;CDC27,downstream_gene_variant,,ENST00000575830,;CDC27,missense_variant,p.Gly52Cys,ENST00000573502,;CDC27,splice_region_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000574304,;	1400	261	251	SUCCESS
PPP1R9B	84687	.	GRCh37	17	48227117	48227117	+	synonymous_variant	Silent	SNP	C	C	G	rs932389488	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	60	1	ENST00000316878.6:c.756G>C	p.Pro252=	p.P252=	ENST00000316878	NM_032595.3	252	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	.	756	RADIA|MUTECT|MUSE	.	GGCGGCGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16154:SF24,hmmpanther:PTHR16154	.	.	ENSP00000475417	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000316878	Transcript	.	.	ENSG00000108819	9298	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEB2_HUMAN	PPP1R9B	HGNC	D3DTX6_HUMAN,Q96B17_HUMAN	.	UPI000066DA68	SNV	PPP1R9B,synonymous_variant,p.%3D,ENST00000316878,;AC002401.1,downstream_gene_variant,,ENST00000451776,;PPP1R9B,non_coding_transcript_exon_variant,,ENST00000501501,;PPP1R9B,upstream_gene_variant,,ENST00000513579,;	759	61	54	SUCCESS
KCNH6	81033	.	GRCh37	17	61620964	61620964	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs756075949	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	53	159	0	ENST00000583023.1:c.2176C>T	p.Arg726Ter	p.R726*	ENST00000583023	NM_030779.3	726	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS11638.1	2176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCCGACAG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	.	.	ENSP00000463533	.	10/14	.	.	.	.	.	.	.	.	rs756075949	10/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,stop_gained,p.Arg673Ter,ENST00000581784,;KCNH6,stop_gained,p.Arg726Ter,ENST00000583023,;KCNH6,stop_gained,p.Arg673Ter,ENST00000456941,;KCNH6,stop_gained,p.Arg726Ter,ENST00000314672,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	2187	159	154	SUCCESS
GRIN2C	2905	.	GRCh37	17	72846852	72846852	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	43	176	0	ENST00000293190.5:c.1168T>C	p.Tyr390His	p.Y390H	ENST00000293190	NM_000835.4	390	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS32724.1	1168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTAGCGAG	NONE	.	.	hmmpanther:PTHR18966:SF179,hmmpanther:PTHR18966,Gene3D:3.40.190.10	.	.	ENSP00000293190	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000293190	Transcript	.	.	ENSG00000161509	4587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.03)	.	NMDE3_HUMAN	GRIN2C	HGNC	.	.	UPI00001AEBA4	SNV	GRIN2C,missense_variant,p.Tyr390His,ENST00000347612,;GRIN2C,missense_variant,p.Tyr390His,ENST00000293190,;GRIN2C,downstream_gene_variant,,ENST00000578159,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;GRIN2C,downstream_gene_variant,,ENST00000584496,;	1315	176	161	SUCCESS
TP53	7157	.	GRCh37	17	7577022	7577022	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs121913344	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	121	0	ENST00000269305.4:c.916C>T	p.Arg306Ter	p.R306*	ENST00000269305	NM_001126112.2	306	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11118.1	916	RADIA|MUTECT|VARSCANS	pathogenic	ACCTCGCTTAG	SITE|p.R306*|c.916C>T|16,SITE|p.R306*|c.916C>T|152,SITE|p.R306*|c.916C>T|24,SITE|p.R306*|c.916C>T|43,CODON|p.0?|c.1_1182del1182|6,BUFFER|p.?|c.919+2T>G|3,BUFFER|p.?|c.919+1G>C|4,BUFFER|p.?|c.919+1G>T|9,BUFFER|p.?|c.919+1G>A|6,BUFFER|p.?|c.919+1G>A|10,BUFFER|p.A307fs*38|c.919delG|4,BUFFER|p.K305N|c.915G>T|3,BUFFER|p.K305*|c.913A>T|16,BUFFER|p.K305*|c.913A>T|3,BUFFER|p.S303N|c.908G>A|3,BUFFER|p.S303T|c.908G>C|3,BUFFER|p.G302E|c.905G>A|3,BUFFER|p.S303fs*42|c.904delG|5	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM971506,rs121913344,TP53_g.13896del,TP53_g.13896C>T,COSM10663,COSM44631,COSM99947,COSM3388168,COSM1640820	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,0,0,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Arg306Ter,ENST00000420246,;TP53,stop_gained,p.Arg306Ter,ENST00000269305,;TP53,stop_gained,p.Arg174Ter,ENST00000509690,;TP53,stop_gained,p.Arg306Ter,ENST00000359597,;TP53,stop_gained,p.Arg306Ter,ENST00000445888,;TP53,stop_gained,p.Arg306Ter,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1106	121	51	SUCCESS
GUCY2D	3000	.	GRCh37	17	7916472	7916472	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745426085	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	27	72	0	ENST00000254854.4:c.2165G>A	p.Arg722Gln	p.R722Q	ENST00000254854	NM_000180.3	722	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11127.1	2165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGGGGAA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF228,hmmpanther:PTHR11920,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000254854	.	11/20	.	.	.	.	.	.	.	.	rs745426085	11/20	PASS	ENST00000254854	Transcript	.	.	ENSG00000132518	4689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.22)	.	GUC2D_HUMAN	GUCY2D	HGNC	.	.	UPI0000128C1C	SNV	GUCY2D,missense_variant,p.Arg722Gln,ENST00000254854,;GUCY2D,upstream_gene_variant,,ENST00000574510,;	2315	72	45	SUCCESS
HAUS1	115106	.	GRCh37	18	43708091	43708091	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	289	81	428	0	ENST00000282058.6:c.837A>G	p.Ter279TrpextTer10	p.*279Wext*10	ENST00000282058	NM_138443.3	279	tgA/tgG	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS11928.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGACAAAA	NONE	.	.	.	.	.	ENSP00000282058	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000282058	Transcript	.	.	ENSG00000152240	25174	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAUS1_HUMAN	HAUS1	HGNC	.	.	UPI0000073700	SNV	HAUS1,stop_lost,p.Ter279TrpextTer10,ENST00000282058,;HAUS1,3_prime_UTR_variant,,ENST00000585518,;HAUS1,non_coding_transcript_exon_variant,,ENST00000585425,;HAUS1,non_coding_transcript_exon_variant,,ENST00000588704,;HAUS1,3_prime_UTR_variant,,ENST00000591715,;HAUS1,3_prime_UTR_variant,,ENST00000593165,;HAUS1,3_prime_UTR_variant,,ENST00000589554,;HAUS1,downstream_gene_variant,,ENST00000592206,;HAUS1,downstream_gene_variant,,ENST00000595199,;HAUS1,downstream_gene_variant,,ENST00000586060,;	917	428	371	SUCCESS
LOXHD1	125336	.	GRCh37	18	44137363	44137363	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	25	134	0	ENST00000300591.6:c.-28G>T		p.*10*	ENST00000300591	NM_001145472.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45861.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACCAGCC	NONE	.	.	.	.	.	ENSP00000300591	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,missense_variant,p.Trp896Cys,ENST00000441551,;LOXHD1,missense_variant,p.Trp35Cys,ENST00000441893,;LOXHD1,missense_variant,p.Trp1102Cys,ENST00000536736,;LOXHD1,missense_variant,p.Trp824Cys,ENST00000398722,;LOXHD1,5_prime_UTR_variant,,ENST00000419859,;LOXHD1,5_prime_UTR_variant,,ENST00000582408,;LOXHD1,5_prime_UTR_variant,,ENST00000300591,;LOXHD1,upstream_gene_variant,,ENST00000579038,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;LOXHD1,upstream_gene_variant,,ENST00000536111,;	387	134	151	SUCCESS
MBP	4155	.	GRCh37	18	74728894	74728894	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs755800293	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	128	0	ENST00000355994.2:c.470A>G	p.His157Arg	p.H157R	ENST00000355994	NM_001025101.1	157	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS42450.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATGGTCC	NONE	.	.	Prints_domain:PR00212,Pfam_domain:PF01669,hmmpanther:PTHR11429,hmmpanther:PTHR11429:SF0	.	.	ENSP00000380958	.	4/4	.	.	.	.	.	.	.	.	rs755800293	4/4	PASS	ENST00000397860	Transcript	.	.	ENSG00000197971	6925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0.01)	.	MBP_HUMAN	MBP	HGNC	J3QKN5_HUMAN,J3KS94_HUMAN,E9PLU9_HUMAN	.	UPI000002ADA3	SNV	MBP,missense_variant,p.His24Arg,ENST00000397866,;MBP,missense_variant,p.His157Arg,ENST00000397863,;MBP,missense_variant,p.His24Arg,ENST00000578873,;MBP,missense_variant,p.His24Arg,ENST00000528160,;MBP,missense_variant,p.His24Arg,ENST00000397865,;MBP,missense_variant,p.His24Arg,ENST00000382582,;MBP,missense_variant,p.His24Arg,ENST00000578193,;MBP,missense_variant,p.His24Arg,ENST00000354542,;MBP,missense_variant,p.His24Arg,ENST00000359645,;MBP,missense_variant,p.His157Arg,ENST00000580402,;MBP,missense_variant,p.His24Arg,ENST00000527041,;MBP,missense_variant,p.His157Arg,ENST00000581878,;MBP,missense_variant,p.His24Arg,ENST00000498683,;MBP,missense_variant,p.His24Arg,ENST00000397875,;MBP,missense_variant,p.His157Arg,ENST00000397860,;MBP,missense_variant,p.His24Arg,ENST00000397869,;MBP,missense_variant,p.His157Arg,ENST00000355994,;MBP,missense_variant,p.His157Arg,ENST00000579129,;MBP,intron_variant,,ENST00000526111,;MBP,non_coding_transcript_exon_variant,,ENST00000581179,;MBP,non_coding_transcript_exon_variant,,ENST00000585216,;MBP,non_coding_transcript_exon_variant,,ENST00000583266,;MBP,non_coding_transcript_exon_variant,,ENST00000582282,;MBP,intron_variant,,ENST00000580473,;MBP,downstream_gene_variant,,ENST00000495162,;MBP,downstream_gene_variant,,ENST00000490754,;MBP,downstream_gene_variant,,ENST00000497479,;MBP,downstream_gene_variant,,ENST00000487778,;MBP,missense_variant,p.His24Arg,ENST00000473302,;MBP,missense_variant,p.His24Arg,ENST00000527975,;MBP,missense_variant,p.His24Arg,ENST00000493623,;MBP,missense_variant,p.His22Arg,ENST00000577755,;MBP,missense_variant,p.His24Arg,ENST00000583474,;MBP,missense_variant,p.His24Arg,ENST00000533278,;MBP,missense_variant,p.His24Arg,ENST00000459948,;MBP,missense_variant,p.His24Arg,ENST00000483025,;MBP,missense_variant,p.His24Arg,ENST00000531144,;MBP,non_coding_transcript_exon_variant,,ENST00000467108,;MBP,non_coding_transcript_exon_variant,,ENST00000397868,;MBP,non_coding_transcript_exon_variant,,ENST00000484548,;MBP,non_coding_transcript_exon_variant,,ENST00000482445,;	685	128	92	SUCCESS
ZNF441	126068	.	GRCh37	19	11891553	11891553	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	132	0	ENST00000357901.4:c.914A>T	p.Asp305Val	p.D305V	ENST00000357901	NM_152355.2	305	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS12266.2	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGATGGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF22,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000350576	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357901	Transcript	.	.	ENSG00000197044	20875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	tolerated(0.08)	.	ZN441_HUMAN	ZNF441	HGNC	J3KQM6_HUMAN	.	UPI000059D677	SNV	ZNF441,missense_variant,p.Asp305Val,ENST00000357901,;ZNF441,missense_variant,p.Asp238Val,ENST00000454339,;ZNF441,3_prime_UTR_variant,,ENST00000409902,;ZNF441,downstream_gene_variant,,ENST00000462251,;	1016	132	77	SUCCESS
GIPC1	10755	.	GRCh37	19	14591237	14591237	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	137	0	ENST00000345425.2:c.535G>T	p.Glu179Ter	p.E179*	ENST00000345425	NM_202470.2	179	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12310.1	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCGATCA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12259,hmmpanther:PTHR12259:SF4,Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF038083,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000376753	.	6/9	.	.	.	.	.	.	.	.	COSM311454	6/9	PASS	ENST00000393033	Transcript	.	.	ENSG00000123159	1226	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GIPC1_HUMAN	GIPC1	HGNC	K7ESN1_HUMAN,K7ELJ2_HUMAN,K7EIT0_HUMAN	.	UPI000012B4BB	SNV	GIPC1,stop_gained,p.Glu82Ter,ENST00000591349,;GIPC1,stop_gained,p.Glu179Ter,ENST00000393033,;GIPC1,stop_gained,p.Glu82Ter,ENST00000587210,;GIPC1,stop_gained,p.Glu82Ter,ENST00000393029,;GIPC1,stop_gained,p.Glu82Ter,ENST00000393028,;GIPC1,stop_gained,p.Glu82Ter,ENST00000587969,;GIPC1,stop_gained,p.Glu179Ter,ENST00000345425,;GIPC1,stop_gained,p.Glu179Ter,ENST00000586027,;GIPC1,downstream_gene_variant,,ENST00000591245,;GIPC1,upstream_gene_variant,,ENST00000589631,;GIPC1,downstream_gene_variant,,ENST00000587934,;GIPC1,non_coding_transcript_exon_variant,,ENST00000585606,;GIPC1,intron_variant,,ENST00000589497,;GIPC1,downstream_gene_variant,,ENST00000587811,;	805	137	112	SUCCESS
ZNF507	22847	.	GRCh37	19	32845669	32845669	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	32	160	0	ENST00000311921.4:c.1933C>T	p.Leu645=	p.L645=	ENST00000311921	NM_014910.4	645	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32985.1	1933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCTGTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000312277	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000311921	Transcript	.	.	ENSG00000168813	23783	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN507_HUMAN	ZNF507	HGNC	.	.	UPI0000202010	SNV	ZNF507,synonymous_variant,p.%3D,ENST00000355898,;ZNF507,synonymous_variant,p.%3D,ENST00000311921,;ZNF507,synonymous_variant,p.%3D,ENST00000544431,;ZNF507,non_coding_transcript_exon_variant,,ENST00000587084,;	2125	160	125	SUCCESS
FCGBP	8857	.	GRCh37	19	40368348	40368348	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746177436	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	43	308	0	ENST00000221347.6:c.13000G>A	p.Ala4334Thr	p.A4334T	ENST00000221347	NM_003890.2	4334	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12546.1	13000	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGCCTGGC	BUFFER|p.A4331T|c.12991G>A|4	.	.	hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	.	.	ENSP00000221347	.	28/36	.	.	.	.	.	.	.	.	rs746177436	28/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Ala4334Thr,ENST00000221347,;	13008	308	284	SUCCESS
ZNF226	7769	.	GRCh37	19	44681455	44681455	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	5	173	0	ENST00000337433.5:c.2040C>T	p.Phe680=	p.F680=	ENST00000337433	NM_001032373.1	680	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS46102.1	2040	MUTECT|MUSE	.	GGCTTCAAGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000465121	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000590089	Transcript	.	.	ENSG00000167380	13019	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN226_HUMAN	ZNF226	HGNC	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN	.	UPI000013C32A	SNV	ZNF226,synonymous_variant,p.%3D,ENST00000590089,;ZNF226,synonymous_variant,p.%3D,ENST00000337433,;ZNF226,synonymous_variant,p.%3D,ENST00000454662,;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000413984,;ZNF226,downstream_gene_variant,,ENST00000588742,;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000300823,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590759,;	2407	173	147	SUCCESS
SIGLEC9	27180	.	GRCh37	19	51633222	51633222	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs770809960	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	70	0	ENST00000250360.3:c.1282del	p.Glu428LysfsTer14	p.E428Kfs*14	ENST00000250360	NM_014441.2	426	gtG/gt	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS56100.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCAGTGGGGGA	NONE	.	.	.	.	.	ENSP00000413861	.	.	.	.	.	.	.	.	.	.	rs770809960	.	PASS	ENST00000440804	Transcript	.	.	ENSG00000129450	10878	4	.	MODIFIER	6/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SIGLEC9	HGNC	.	.	UPI00017A75A8	deletion	SIGLEC9,frameshift_variant,p.Glu428LysfsTer14,ENST00000250360,;SIGLEC9,intron_variant,,ENST00000440804,;SIGLEC9,downstream_gene_variant,,ENST00000599948,;	.	70	83	SUCCESS
ZNF135	7694	.	GRCh37	19	58579348	58579348	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	100	0	ENST00000313434.5:c.1496G>A	p.Cys499Tyr	p.C499Y	ENST00000313434	NM_003436.3	499	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS54329.1	1568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTGCGGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441410	.	4/4	.	.	.	.	.	.	.	.	COSM1002641,COSM1002640	4/4	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Cys523Tyr,ENST00000401053,;ZNF135,missense_variant,p.Cys457Tyr,ENST00000506786,;ZNF135,missense_variant,p.Cys499Tyr,ENST00000313434,;ZNF135,missense_variant,p.Cys511Tyr,ENST00000511556,;ZNF135,missense_variant,p.Cys499Tyr,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	1571	100	86	SUCCESS
AMPD1	270	.	GRCh37	1	115223060	115223060	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149424604	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	135	0	ENST00000520113.2:c.686G>A	p.Arg229Gln	p.R229Q	ENST00000520113		229	cGa/cAa	0	T:0.0002	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS876.2	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCGGAAG	SITE|p.R196Q|c.587G>A|3,SITE|p.R229Q|c.686G>A|3	byCluster|by1000G	.	hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	T:0	T:0.0001	ENSP00000430075	T:0	6/16	.	.	.	.	.	.	.	.	rs149424604,COSM1332920,COSM1332919	6/16	PASS	ENST00000520113	Transcript	.	T:0.0002	ENSG00000116748	468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.001)	T:0.001	tolerated(0.49)	0,1,1	AMPD1_HUMAN	AMPD1	HGNC	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN	.	UPI0000470A27	SNV	AMPD1,missense_variant,p.Arg196Gln,ENST00000353928,;AMPD1,missense_variant,p.Arg229Gln,ENST00000520113,;AMPD1,missense_variant,p.Arg225Gln,ENST00000369538,;AMPD1,intron_variant,,ENST00000485564,;	702	135	108	SUCCESS
NOTCH2	4853	.	GRCh37	1	120484359	120484359	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	102	253	0	ENST00000256646.2:c.2771G>T	p.Gly924Val	p.G924V	ENST00000256646	NM_024408.3	924	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS908.1	2771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACCTCCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,PROSITE_patterns:PS01187,Gene3D:2gy5A03,Pfam_domain:PF00008,SMART_domains:SM00179,PIRSF_domain:PIRSF002279,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000256646	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	deleterious(0)	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,missense_variant,p.Gly924Val,ENST00000256646,;NOTCH2,upstream_gene_variant,,ENST00000478864,;	2991	253	259	SUCCESS
HIST2H2BF	0	.	GRCh37	1	149783278	149783278	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	31	0	ENST00000545683.1:c.377+224C>G		p.*126*	ENST00000545683	NM_001161334.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAAGACTGG	NONE	.	.	.	.	.	ENSP00000445831	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545683	Transcript	.	.	ENSG00000203814	24700	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B2F_HUMAN	HIST2H2BF	HGNC	.	.	UPI00017A7443	SNV	HIST2H2BF,intron_variant,,ENST00000545683,;HIST2H2BF,intron_variant,,ENST00000427880,;HIST2H2BF,downstream_gene_variant,,ENST00000369167,;HIST2H3D,downstream_gene_variant,,ENST00000331491,;RP11-196G18.21,non_coding_transcript_exon_variant,,ENST00000420462,;HIST2H2BF,intron_variant,,ENST00000469483,;	.	31	33	SUCCESS
FLG	2312	.	GRCh37	1	152280186	152280186	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1163393680	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	104	0	ENST00000368799.1:c.7176T>A	p.His2392Gln	p.H2392Q	ENST00000368799	NM_002016.1	2392	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS30860.1	7176	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TGCTGATGGGG	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.227)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.His2392Gln,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7212	104	70	SUCCESS
RAB13	5872	.	GRCh37	1	153955796	153955796	+	intron_variant	Intron	SNP	T	T	C	rs765938779	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	61	0	ENST00000368575.3:c.247-24A>G		p.*83*	ENST00000368575	NM_002870.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1058.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTGGACC	NONE	byFrequency	.	.	.	.	ENSP00000357564	.	.	.	.	.	.	.	.	.	.	rs765938779	.	PASS	ENST00000368575	Transcript	.	.	ENSG00000143545	9762	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB13_HUMAN	RAB13	HGNC	Q504R6_HUMAN	.	UPI0000001264	SNV	RAB13,intron_variant,,ENST00000368575,;RP11-422P24.11,downstream_gene_variant,,ENST00000608236,;RAB13,non_coding_transcript_exon_variant,,ENST00000462680,;RAB13,intron_variant,,ENST00000495720,;RAB13,intron_variant,,ENST00000484297,;	.	61	51	SUCCESS
C1orf226	400793	.	GRCh37	1	162353116	162353116	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	68	162	0	ENST00000458626.2:c.462A>G	p.Pro154=	p.P154=	ENST00000458626	NM_001085375.1	154	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS44268.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCATCACC	NONE	.	.	hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39,Pfam_domain:PF15429	.	.	ENSP00000413150	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000426197	Transcript	.	.	ENSG00000239887	34351	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA226_HUMAN	C1orf226	HGNC	F8W6W0_HUMAN	.	UPI00006C02B3	SNV	C1orf226,synonymous_variant,p.%3D,ENST00000458626,;C1orf226,synonymous_variant,p.%3D,ENST00000420220,;C1orf226,synonymous_variant,p.%3D,ENST00000426197,;RP11-565P22.6,downstream_gene_variant,,ENST00000431696,;NOS1AP,3_prime_UTR_variant,,ENST00000367932,;	664	162	180	SUCCESS
METTL13	0	.	GRCh37	1	171750947	171750947	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	34	0	ENST00000361735.3:c.-161T>G		p.*54*	ENST00000361735	NM_015935.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1299.1	.	MUTECT|MUSE	.	GTCATTCCTGG	NONE	.	.	.	.	.	ENSP00000354920	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,5_prime_UTR_variant,,ENST00000361735,;METTL13,5_prime_UTR_variant,,ENST00000367737,;METTL13,intron_variant,,ENST00000458517,;METTL13,intron_variant,,ENST00000362019,;METTL13,intron_variant,,ENST00000485629,;	106	34	24	SUCCESS
DENND1B	163486	.	GRCh37	1	197704827	197704827	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	58	0	ENST00000367396.3:c.83-20623T>A		p.*28*	ENST00000367396	NM_144977.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41452.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTACGCCA	NONE	.	.	.	.	.	ENSP00000356366	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367396	Transcript	.	.	ENSG00000213047	28404	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN1B_HUMAN	DENND1B	HGNC	.	.	UPI0000227E74	SNV	DENND1B,5_prime_UTR_variant,,ENST00000235453,;DENND1B,intron_variant,,ENST00000422998,;DENND1B,intron_variant,,ENST00000367396,;DENND1B,upstream_gene_variant,,ENST00000400967,;DENND1B,non_coding_transcript_exon_variant,,ENST00000477581,;DENND1B,upstream_gene_variant,,ENST00000294738,;DENND1B,non_coding_transcript_exon_variant,,ENST00000495550,;DENND1B,non_coding_transcript_exon_variant,,ENST00000468589,;DENND1B,intron_variant,,ENST00000294737,;RP11-448G4.2,non_coding_transcript_exon_variant,,ENST00000447479,;	.	58	57	SUCCESS
HP1BP3	50809	.	GRCh37	1	21072039	21072039	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770760810	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	32	75	0	ENST00000312239.5:c.1364G>C	p.Arg455Thr	p.R455T	ENST00000312239	NM_016287.3	455	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS30621.1	1364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCTCTTA	NONE	byFrequency	.	hmmpanther:PTHR15832:SF1,hmmpanther:PTHR15832	.	.	ENSP00000312625	.	12/13	.	.	.	.	.	.	.	.	rs770760810	12/13	PASS	ENST00000312239	Transcript	.	.	ENSG00000127483	24973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious_low_confidence(0)	.	HP1B3_HUMAN	HP1BP3	HGNC	Q5SWC8_HUMAN,B4E0N8_HUMAN,B0QZK9_HUMAN,B0QZK8_HUMAN,B0QZK6_HUMAN,B0QZK5_HUMAN	.	UPI0000036038	SNV	HP1BP3,missense_variant,p.Arg455Thr,ENST00000312239,;HP1BP3,missense_variant,p.Arg303Thr,ENST00000375003,;HP1BP3,downstream_gene_variant,,ENST00000419948,;RP5-930J4.4,downstream_gene_variant,,ENST00000413451,;HP1BP3,non_coding_transcript_exon_variant,,ENST00000488722,;HP1BP3,downstream_gene_variant,,ENST00000491748,;	1504	75	54	SUCCESS
NVL	4931	.	GRCh37	1	224415337	224415337	+	synonymous_variant	Silent	SNP	G	G	A	rs1225499099	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	241	95	388	0	ENST00000281701.6:c.2562C>T	p.Leu854=	p.L854=	ENST00000281701	NM_002533.3	854	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1541.1	2562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTGAGGGA	NONE	.	.	hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55	.	.	ENSP00000281701	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000281701	Transcript	.	.	ENSG00000143748	8070	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NVL_HUMAN	NVL	HGNC	Q96PA2_HUMAN	.	UPI0000073F3E	SNV	NVL,synonymous_variant,p.%3D,ENST00000482491,;NVL,synonymous_variant,p.%3D,ENST00000340871,;NVL,synonymous_variant,p.%3D,ENST00000391875,;NVL,synonymous_variant,p.%3D,ENST00000281701,;NVL,synonymous_variant,p.%3D,ENST00000469968,;NVL,synonymous_variant,p.%3D,ENST00000469075,;RP11-365O16.6,non_coding_transcript_exon_variant,,ENST00000420350,;NVL,non_coding_transcript_exon_variant,,ENST00000489194,;NVL,non_coding_transcript_exon_variant,,ENST00000493060,;NVL,non_coding_transcript_exon_variant,,ENST00000481213,;NVL,non_coding_transcript_exon_variant,,ENST00000483094,;NVL,downstream_gene_variant,,ENST00000496393,;	2822	388	336	SUCCESS
OBSCN	84033	.	GRCh37	1	228487195	228487195	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	29	0	ENST00000422127.1:c.11659+4451G>A		p.*3887*	ENST00000422127	NM_001098623.2	4482		0	.	.	.	.	.	A	E	protein_coding	YES	CCDS59204.1	13446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGAGGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	50/116	.	.	.	.	.	.	.	.	.	50/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000483539,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000602685,;OBSCN,upstream_gene_variant,,ENST00000602832,;OBSCN,downstream_gene_variant,,ENST00000494839,;	13520	29	37	SUCCESS
TARBP1	6894	.	GRCh37	1	234541649	234541649	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	180	1	ENST00000040877.1:c.3989G>A	p.Gly1330Glu	p.G1330E	ENST00000040877	NM_005646.3	1330	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS1601.1	3989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCCTGCT	NONE	.	.	PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11	.	.	ENSP00000040877	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000040877	Transcript	.	.	ENSG00000059588	11568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TARB1_HUMAN	TARBP1	HGNC	.	.	UPI000006DB0F	SNV	TARBP1,missense_variant,p.Gly1330Glu,ENST00000040877,;TARBP1,splice_region_variant,,ENST00000481183,;TARBP1,splice_region_variant,,ENST00000483404,;TARBP1,splice_region_variant,,ENST00000462259,;TARBP1,splice_region_variant,,ENST00000468077,;TARBP1,downstream_gene_variant,,ENST00000463793,;TARBP1,upstream_gene_variant,,ENST00000496673,;	3989	181	151	SUCCESS
LYST	1130	.	GRCh37	1	235916449	235916451	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	rs765160019	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	245	113	371	0	ENST00000389793.2:c.7353_7355del	p.Leu2452del	p.L2452del	ENST00000389793	NM_000081.3	2451	ctTCTc/ctc	0	-:0.0033	.	.	.	.	-	LL/L	protein_coding	YES	CCDS31062.1	7353-7355	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTGGAGAAGAAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	-:0.0035	ENSP00000374444	.	26/53	.	.	.	.	.	.	.	.	rs765160019	26/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	deletion	LYST,inframe_deletion,p.Leu2452del,ENST00000389793,;LYST,inframe_deletion,p.Leu2452del,ENST00000389794,;LYST,upstream_gene_variant,,ENST00000487530,;	7528-7530	371	358	SUCCESS
ZNF436	80818	.	GRCh37	1	23689582	23689582	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	100	0	ENST00000314011.4:c.293G>A	p.Ser98Asn	p.S98N	ENST00000314011	NM_001077195.1	98	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS233.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGCTTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24377	.	.	ENSP00000313582	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314011	Transcript	.	.	ENSG00000125945	20814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.49)	.	ZN436_HUMAN	ZNF436	HGNC	Q15921_HUMAN	.	UPI0000001669	SNV	ZNF436,missense_variant,p.Ser98Asn,ENST00000314011,;ZNF436,missense_variant,p.Ser98Asn,ENST00000374608,;	430	100	53	SUCCESS
ARID1A	8289	.	GRCh37	1	27023388	27023388	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	66	0	ENST00000324856.7:c.494del	p.Ala165GlyfsTer67	p.A165Gfs*67	ENST00000324856	NM_006015.4	165	gCg/gg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS285.1	494	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCCGCGGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000320485	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Ala165GlyfsTer67,ENST00000457599,;ARID1A,frameshift_variant,p.Ala165GlyfsTer67,ENST00000324856,;RP5-968P14.2,upstream_gene_variant,,ENST00000569378,;	865	66	44	SUCCESS
TTLL7	79739	.	GRCh37	1	84386928	84386928	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	101	0	ENST00000260505.8:c.1290+2T>C		p.X430_splice	ENST00000260505	NM_024686.4	430		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS690.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATACCAAC	NONE	.	.	.	.	.	ENSP00000260505	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260505	Transcript	.	.	ENSG00000137941	26242	.	.	HIGH	11/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL7_HUMAN	TTLL7	HGNC	.	.	UPI000020391D	SNV	TTLL7,splice_donor_variant,,ENST00000260505,;TTLL7,splice_donor_variant,,ENST00000477524,;TTLL7,splice_donor_variant,,ENST00000472688,;TTLL7,splice_donor_variant,,ENST00000482783,;TTLL7,splice_donor_variant,,ENST00000488014,;TTLL7,splice_donor_variant,,ENST00000474957,;TTLL7,splice_donor_variant,,ENST00000485638,;TTLL7,splice_donor_variant,,ENST00000480174,;	.	101	106	SUCCESS
TMEM56	0	.	GRCh37	1	95609526	95609526	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	49	141	0	ENST00000370203.4:c.69C>G	p.Phe23Leu	p.F23L	ENST00000370203	NM_152487.2	23	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS753.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCTACTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF1	.	.	ENSP00000359222	.	2/7	.	.	.	.	.	.	.	.	COSM4010744	2/7	PASS	ENST00000370203	Transcript	.	.	ENSG00000152078	26477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.971)	.	deleterious(0)	1	TMM56_HUMAN	TMEM56	HGNC	C9JJM2_HUMAN,C9J6J2_HUMAN	.	UPI00000700A5	SNV	TMEM56,missense_variant,p.Phe23Leu,ENST00000370203,;TMEM56-RWDD3,missense_variant,p.Phe23Leu,ENST00000604534,;TMEM56,missense_variant,p.Phe23Leu,ENST00000455656,;TMEM56,missense_variant,p.Phe23Leu,ENST00000456991,;TMEM56,non_coding_transcript_exon_variant,,ENST00000463375,;	360	141	112	SUCCESS
AL034548.1	0	.	GRCh37	20	278367	278367	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	64	0	ENST00000500893.2:n.154T>C		p.*52*	ENST00000500893		47		0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42844.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCTAGCCG	NONE	.	.	.	.	.	ENSP00000371789	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382352	Transcript	.	.	ENSG00000177764	16230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious_low_confidence(0)	.	ZCHC3_HUMAN	ZCCHC3	HGNC	.	.	UPI00001285F2	SNV	ZCCHC3,missense_variant,p.Leu47Pro,ENST00000382352,;AL034548.1,non_coding_transcript_exon_variant,,ENST00000500893,;	631	64	61	SUCCESS
WFDC5	149708	.	GRCh37	20	43738425	43738425	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs766110669	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	56	203	0	ENST00000307971.4:c.623G>C	p.Cys208Ser	p.C208S	ENST00000307971		208	tGt/tCt	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33475.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATACAGAGG	NONE	.	.	.	.	.	ENSP00000361875	.	4/4	.	.	.	.	.	.	.	.	rs766110669	4/4	PASS	ENST00000372789	Transcript	.	.	ENSG00000175121	20477	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WFDC5_HUMAN	WFDC5	HGNC	.	.	UPI0000001C7C	SNV	WFDC5,missense_variant,p.Cys208Ser,ENST00000307971,;WFDC5,3_prime_UTR_variant,,ENST00000372789,;	686	203	198	SUCCESS
CDH4	1002	.	GRCh37	20	60448832	60448832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	86	0	ENST00000360469.5:c.926C>A	p.Thr309Lys	p.T309K	ENST00000360469	NM_001794.3	309	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS13488.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGGCCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,PROSITE_profiles:PS50268	.	.	ENSP00000353656	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000360469	Transcript	.	.	ENSG00000179242	1763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	CADH4_HUMAN	CDH4	HGNC	Q8ND09_HUMAN	.	UPI000015FE86	SNV	CDH4,missense_variant,p.Thr235Lys,ENST00000543233,;CDH4,missense_variant,p.Thr309Lys,ENST00000360469,;	1014	86	79	SUCCESS
COL18A1	80781	.	GRCh37	21	46912479	46912479	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	127	0	ENST00000359759.4:c.3432+1G>A		p.X1144_splice	ENST00000359759		1144		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42972.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGTATGT	NONE	.	.	.	.	.	ENSP00000347665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	.	.	HIGH	22/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	SNV	COL18A1,splice_donor_variant,,ENST00000359759,;COL18A1,splice_donor_variant,,ENST00000355480,;COL18A1,splice_donor_variant,,ENST00000342220,;COL18A1,splice_donor_variant,,ENST00000400337,;SLC19A1,downstream_gene_variant,,ENST00000417954,;COL18A1,upstream_gene_variant,,ENST00000459895,;	.	127	70	SUCCESS
MICAL3	57553	.	GRCh37	22	18300582	18300582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	112	0	ENST00000441493.2:c.4845G>T	p.Arg1615Ser	p.R1615S	ENST00000441493	NM_015241.2	1615	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46659.1	4845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCCTGGC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	.	.	ENSP00000416015	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000441493	Transcript	.	.	ENSG00000243156	24694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	.	.	MICA3_HUMAN	MICAL3	HGNC	C9J922_HUMAN,A8K0E1_HUMAN	.	UPI0001823FDE	SNV	MICAL3,missense_variant,p.Arg1615Ser,ENST00000441493,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;	5198	112	75	SUCCESS
PNPLA5	150379	.	GRCh37	22	44282291	44282291	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	65	0	ENST00000216177.4:c.841G>A	p.Gly281Ser	p.G281S	ENST00000216177	NM_138814.3	281	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS14053.1	841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCAGCAT	NONE	.	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF4	.	.	ENSP00000216177	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000216177	Transcript	.	.	ENSG00000100341	24888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.15)	.	PLPL5_HUMAN	PNPLA5	HGNC	.	.	UPI000006D0C8	SNV	PNPLA5,missense_variant,p.Gly167Ser,ENST00000381198,;PNPLA5,missense_variant,p.Gly167Ser,ENST00000593866,;PNPLA5,missense_variant,p.Gly281Ser,ENST00000216177,;PNPLA5,missense_variant,p.Gly281Ser,ENST00000597664,;PNPLA5,missense_variant,p.Gly189Ser,ENST00000438734,;	974	65	62	SUCCESS
SCN2A	6326	.	GRCh37	2	166172100	166172100	+	synonymous_variant	Silent	SNP	G	G	T	rs267598958	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	51	171	0	ENST00000283256.6:c.1503G>T	p.Leu501=	p.L501=	ENST00000283256	NM_021007.2	501	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33313.1	1503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GAGCTGAAAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF11933	.	.	ENSP00000349973	.	11/27	.	.	.	.	.	.	.	.	rs267598958	11/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,synonymous_variant,p.%3D,ENST00000283256,;SCN2A,synonymous_variant,p.%3D,ENST00000375437,;SCN2A,synonymous_variant,p.%3D,ENST00000424833,;SCN2A,synonymous_variant,p.%3D,ENST00000375427,;SCN2A,synonymous_variant,p.%3D,ENST00000357398,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;SCN2A,downstream_gene_variant,,ENST00000486878,;	1793	171	151	SUCCESS
TTN	7273	.	GRCh37	2	179474547	179474547	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	174	0	ENST00000591111.1:c.46680G>T	p.Leu15560=	p.L15560=	ENST00000591111		15560	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59435.1	51603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACCAGGTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	272/363	.	.	.	.	.	.	.	.	.	272/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;	51828	174	147	SUCCESS
ABI2	10152	.	GRCh37	2	204267450	204267450	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	55	182	0	ENST00000295851.5:c.1185G>C	p.Gln395His	p.Q395H	ENST00000295851	NM_001282925.1	395	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS2358.1	984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGAATCC	NONE	.	.	hmmpanther:PTHR10460:SF3,hmmpanther:PTHR10460	.	.	ENSP00000261017	.	7/10	.	.	.	.	.	.	.	.	COSM1404669	7/10	PASS	ENST00000261017	Transcript	.	.	ENSG00000138443	24011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.069)	.	deleterious(0.04)	1	ABI2_HUMAN	ABI2	HGNC	Q53SH3_HUMAN,Q53RS4_HUMAN,B7ZAM8_HUMAN	.	UPI0000070712	SNV	ABI2,missense_variant,p.Gln328His,ENST00000261017,;ABI2,missense_variant,p.Gln340His,ENST00000430418,;ABI2,missense_variant,p.Gln362His,ENST00000422511,;ABI2,missense_variant,p.Gln199His,ENST00000451591,;ABI2,missense_variant,p.Gln395His,ENST00000417864,;ABI2,missense_variant,p.Gln283His,ENST00000261016,;ABI2,missense_variant,p.Gln181His,ENST00000261018,;ABI2,missense_variant,p.Gln395His,ENST00000295851,;ABI2,missense_variant,p.Gln389His,ENST00000424558,;ABI2,missense_variant,p.Gln175His,ENST00000454023,;RAPH1,intron_variant,,ENST00000457812,;ABI2,non_coding_transcript_exon_variant,,ENST00000422719,;ABI2,non_coding_transcript_exon_variant,,ENST00000416396,;ABI2,non_coding_transcript_exon_variant,,ENST00000430574,;ABI2,non_coding_transcript_exon_variant,,ENST00000464761,;ABI2,downstream_gene_variant,,ENST00000411547,;ABI2,3_prime_UTR_variant,,ENST00000441061,;ABI2,3_prime_UTR_variant,,ENST00000416001,;	1219	182	157	SUCCESS
PSMD1	5707	.	GRCh37	2	232028365	232028365	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761435030	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	112	0	ENST00000308696.6:c.2405A>G	p.Tyr802Cys	p.Y802C	ENST00000308696	NM_002807.3	802	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2482.1	2405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTATAAAT	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947	.	.	ENSP00000309474	.	21/25	.	.	.	.	.	.	.	.	rs761435030	21/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.76)	.	deleterious(0)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Tyr802Cys,ENST00000308696,;PSMD1,intron_variant,,ENST00000409643,;PSMD1,intron_variant,,ENST00000373635,;PSMD1,3_prime_UTR_variant,,ENST00000431051,;PSMD1,non_coding_transcript_exon_variant,,ENST00000467792,;PSMD1,non_coding_transcript_exon_variant,,ENST00000477120,;PSMD1,upstream_gene_variant,,ENST00000481003,;	2567	112	76	SUCCESS
ALPI	248	.	GRCh37	2	233323747	233323747	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763287848	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	113	0	ENST00000295463.3:c.1478G>A	p.Cys493Tyr	p.C493Y	ENST00000295463	NM_001631.3	493	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS2492.1	1478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGCGACC	NONE	byFrequency	.	hmmpanther:PTHR11596:SF30,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000295463	.	11/11	.	.	.	.	.	.	.	.	rs763287848	11/11	PASS	ENST00000295463	Transcript	.	.	ENSG00000163295	437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	deleterious(0.01)	.	PPBI_HUMAN	ALPI	HGNC	.	.	UPI0000131FFE	SNV	ALPI,missense_variant,p.Cys493Tyr,ENST00000295463,;ALPI,3_prime_UTR_variant,,ENST00000457560,;	1555	113	69	SUCCESS
MOGS	7841	.	GRCh37	2	74692368	74692368	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1246940304	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	79	234	1	ENST00000233616.4:c.7C>T	p.Arg3Trp	p.R3W	ENST00000233616	NM_006302.2	3	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS42700.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGAGCCA	NONE	.	.	hmmpanther:PTHR10412:SF1,hmmpanther:PTHR10412	.	.	ENSP00000233616	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000233616	Transcript	.	.	ENSG00000115275	24862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious_low_confidence(0)	.	MOGS_HUMAN	MOGS	HGNC	C9JDQ1_HUMAN,C9J8D4_HUMAN	.	UPI000006FEFF	SNV	MOGS,missense_variant,p.Arg3Trp,ENST00000233616,;MOGS,missense_variant,p.Arg3Trp,ENST00000535045,;MOGS,missense_variant,p.Arg3Trp,ENST00000409065,;MOGS,intron_variant,,ENST00000452063,;MOGS,intron_variant,,ENST00000414701,;MOGS,intron_variant,,ENST00000448666,;WBP1,downstream_gene_variant,,ENST00000393972,;WBP1,downstream_gene_variant,,ENST00000428943,;WBP1,downstream_gene_variant,,ENST00000409737,;WBP1,downstream_gene_variant,,ENST00000233615,;MOGS,intron_variant,,ENST00000462443,;MOGS,upstream_gene_variant,,ENST00000489655,;WBP1,downstream_gene_variant,,ENST00000494741,;WBP1,downstream_gene_variant,,ENST00000466835,;WBP1,downstream_gene_variant,,ENST00000470536,;MOGS,non_coding_transcript_exon_variant,,ENST00000486036,;WBP1,downstream_gene_variant,,ENST00000490120,;INO80B,downstream_gene_variant,,ENST00000452361,;INO80B,downstream_gene_variant,,ENST00000441673,;WBP1,downstream_gene_variant,,ENST00000484744,;WBP1,downstream_gene_variant,,ENST00000473467,;MOGS,upstream_gene_variant,,ENST00000462189,;	170	235	174	SUCCESS
M1AP	130951	.	GRCh37	2	74842177	74842177	+	synonymous_variant	Silent	SNP	G	G	A	rs756531097	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	117	0	ENST00000290536.5:c.340C>T	p.Leu114=	p.L114=	ENST00000290536	NM_138804.4	114	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33229.1	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGCCGCA	NONE	byFrequency	.	.	.	.	ENSP00000290536	.	3/11	.	.	.	.	.	.	.	.	rs756531097	3/11	PASS	ENST00000290536	Transcript	.	.	ENSG00000159374	25183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M1AP_HUMAN	M1AP	HGNC	C9JPR9_HUMAN	.	UPI0000072570	SNV	M1AP,synonymous_variant,p.%3D,ENST00000409585,;M1AP,synonymous_variant,p.%3D,ENST00000290536,;M1AP,synonymous_variant,p.%3D,ENST00000536235,;M1AP,synonymous_variant,p.%3D,ENST00000421985,;M1AP,5_prime_UTR_variant,,ENST00000358434,;M1AP,non_coding_transcript_exon_variant,,ENST00000478437,;M1AP,synonymous_variant,p.%3D,ENST00000422394,;M1AP,intron_variant,,ENST00000438226,;AC005033.6,downstream_gene_variant,,ENST00000428904,;	457	117	104	SUCCESS
VWA3B	200403	.	GRCh37	2	98833369	98833369	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	45	106	0	ENST00000477737.1:c.1837-940C>T		p.*613*	ENST00000477737	NM_144992.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42718.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTCTGGAG	NONE	.	.	.	.	.	ENSP00000417955	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODIFIER	13/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,3_prime_UTR_variant,,ENST00000451075,;VWA3B,intron_variant,,ENST00000477737,;VWA3B,intron_variant,,ENST00000473149,;VWA3B,downstream_gene_variant,,ENST00000435344,;VWA3B,intron_variant,,ENST00000489968,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000422503,;VWA3B,3_prime_UTR_variant,,ENST00000433678,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,intron_variant,,ENST00000489630,;VWA3B,intron_variant,,ENST00000416277,;VWA3B,intron_variant,,ENST00000409460,;VWA3B,intron_variant,,ENST00000448638,;VWA3B,downstream_gene_variant,,ENST00000466852,;	.	106	106	SUCCESS
POLQ	10721	.	GRCh37	3	121208342	121208342	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751919003	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	131	0	ENST00000264233.5:c.3436G>A	p.Val1146Met	p.V1146M	ENST00000264233	NM_199420.3	1146	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS33833.1	3436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCACATTTT	NONE	byFrequency	.	.	.	.	ENSP00000264233	.	16/30	.	.	.	.	.	.	.	.	rs751919003	16/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.21)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Val1146Met,ENST00000264233,;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	3565	131	111	SUCCESS
OSBPL11	114885	.	GRCh37	3	125271474	125271474	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs375600104	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	36	121	0	ENST00000296220.5:c.1205A>G	p.Tyr402Cys	p.Y402C	ENST00000296220	NM_022776.4	402	tAt/tGt	0	C:0	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3033.1	1205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATACATT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF46,Pfam_domain:PF01237,Superfamily_domains:0051579	.	C:0.0001	ENSP00000296220	.	9/13	.	.	.	.	.	.	.	.	rs375600104	9/13	PASS	ENST00000296220	Transcript	.	.	ENSG00000144909	16397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OSB11_HUMAN	OSBPL11	HGNC	Q9GZM0_HUMAN	.	UPI0000130E9C	SNV	OSBPL11,missense_variant,p.Tyr402Cys,ENST00000296220,;	1495	121	123	SUCCESS
EFCC1	79825	.	GRCh37	3	128753168	128753168	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	79	0	ENST00000436022.2:c.134A>G	p.Glu45Gly	p.E45G	ENST00000436022	NM_024768.2	45	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS3054.2	1445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGAGGAGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11595:SF22,hmmpanther:PTHR11595	.	.	ENSP00000420075	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000480450	Transcript	.	.	ENSG00000114654	25692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious(0)	.	EFCC1_HUMAN	EFCC1	HGNC	.	.	UPI0001A2305A	SNV	EFCC1,missense_variant,p.Glu45Gly,ENST00000436022,;EFCC1,missense_variant,p.Glu482Gly,ENST00000480450,;EFCC1,non_coding_transcript_exon_variant,,ENST00000481536,;	1445	79	50	SUCCESS
EFCAB12	90288	.	GRCh37	3	129127685	129127685	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	52	108	0	ENST00000326085.3:c.1052T>C	p.Ile351Thr	p.I351T	ENST00000326085		351	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS54638.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGATGGAG	NONE	.	.	hmmpanther:PTHR23050:SF152,hmmpanther:PTHR23050	.	.	ENSP00000420854	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000505956	Transcript	.	.	ENSG00000172771	28061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0.02)	.	EFC12_HUMAN	EFCAB12	HGNC	.	.	UPI00001C1DE1	SNV	EFCAB12,missense_variant,p.Ile351Thr,ENST00000505956,;EFCAB12,missense_variant,p.Ile351Thr,ENST00000326085,;EFCAB12,downstream_gene_variant,,ENST00000503957,;EFCAB12,non_coding_transcript_exon_variant,,ENST00000503498,;EFCAB12,non_coding_transcript_exon_variant,,ENST00000514900,;	1215	108	110	SUCCESS
TF	7018	.	GRCh37	3	133486989	133486989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752715864	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	47	154	0	ENST00000402696.3:c.1603G>A	p.Gly535Ser	p.G535S	ENST00000402696	NM_001063.3	535	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3080.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACGGCTAC	NONE	.	.	Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408	.	.	ENSP00000385834	.	13/17	.	.	.	.	.	.	.	.	rs752715864	13/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.02)	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	SNV	TF,missense_variant,p.Gly535Ser,ENST00000402696,;TF,missense_variant,p.Gly408Ser,ENST00000264998,;TF,missense_variant,p.Gly92Ser,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000462495,;TF,upstream_gene_variant,,ENST00000467842,;	2088	155	126	SUCCESS
MBNL1	4154	.	GRCh37	3	152173338	152173338	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	94	0	ENST00000282486.6:c.1016-718A>G		p.*339*	ENST00000282486				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATATTGTG	NONE	.	.	.	.	.	ENSP00000282486	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282486	Transcript	.	.	ENSG00000152601	6923	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBNL1_HUMAN	MBNL1	HGNC	C9JCX1_HUMAN,C9J7P7_HUMAN	.	UPI000003B440	SNV	MBNL1,missense_variant,p.Ile191Met,ENST00000478535,;MBNL1,missense_variant,p.Ile255Met,ENST00000545754,;MBNL1,missense_variant,p.Ile284Met,ENST00000493459,;MBNL1,missense_variant,p.Ile323Met,ENST00000357472,;MBNL1,missense_variant,p.Ile255Met,ENST00000465907,;MBNL1,missense_variant,p.Ile323Met,ENST00000492948,;MBNL1,missense_variant,p.Ile323Met,ENST00000324210,;MBNL1,intron_variant,,ENST00000282486,;MBNL1,intron_variant,,ENST00000485509,;MBNL1,intron_variant,,ENST00000324196,;MBNL1,intron_variant,,ENST00000498502,;MBNL1,intron_variant,,ENST00000463374,;MBNL1,intron_variant,,ENST00000282488,;MBNL1,intron_variant,,ENST00000355460,;MBNL1,intron_variant,,ENST00000485910,;MBNL1,intron_variant,,ENST00000464596,;RP11-362A9.3,downstream_gene_variant,,ENST00000463255,;MBNL1,non_coding_transcript_exon_variant,,ENST00000460166,;MBNL1,upstream_gene_variant,,ENST00000497971,;	.	94	87	SUCCESS
SH3BP5-AS1	100505696	.	GRCh37	3	15300902	15300902	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	12	0	ENST00000420195.1:n.4185A>C		p.*1395*	ENST00000420195				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2625.2	.	RADIA|MUTECT|MUSE	.	GCATCAAAATC	NONE	.	.	.	.	.	ENSP00000373301	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000383791	Transcript	.	.	ENSG00000131370	10827	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	3BP5_HUMAN	SH3BP5	HGNC	Q6MZG3_HUMAN,C9JNW0_HUMAN,C9JK30_HUMAN,B2R7Y8_HUMAN	.	UPI00004C3DB7	SNV	SH3BP5,intron_variant,,ENST00000408919,;SH3BP5,intron_variant,,ENST00000383791,;SH3BP5,intron_variant,,ENST00000366391,;SH3BP5,intron_variant,,ENST00000426925,;SH3BP5,intron_variant,,ENST00000253688,;SH3BP5,downstream_gene_variant,,ENST00000417936,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000420195,;SH3BP5-AS1,downstream_gene_variant,,ENST00000436602,;SH3BP5-AS1,downstream_gene_variant,,ENST00000413977,;SH3BP5,intron_variant,,ENST00000412806,;SH3BP5,downstream_gene_variant,,ENST00000450625,;	.	12	10	SUCCESS
SATB1	6304	.	GRCh37	3	18390666	18390666	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	38	130	0	ENST00000338745.6:c.2288A>G	p.Asp763Gly	p.D763G	ENST00000338745	NM_002971.4	763	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS56242.1	2384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGTCTTTC	NONE	.	.	hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14	.	.	ENSP00000399518	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000417717	Transcript	.	.	ENSG00000182568	10541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious_low_confidence(0)	.	SATB1_HUMAN	SATB1	HGNC	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN	.	UPI0000E1FB67	SNV	SATB1,missense_variant,p.Asp763Gly,ENST00000454909,;SATB1,missense_variant,p.Asp795Gly,ENST00000417717,;SATB1,missense_variant,p.Asp763Gly,ENST00000338745,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000606296,;SATB1,downstream_gene_variant,,ENST00000476178,;SATB1,downstream_gene_variant,,ENST00000467628,;	3355	130	118	SUCCESS
RNF123	63891	.	GRCh37	3	49753432	49753432	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764220503	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	46	0	ENST00000327697.6:c.3328C>T	p.Arg1110Cys	p.R1110C	ENST00000327697	NM_022064.3	1110	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS33758.1	3328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGCGTCTT	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	33/39	.	.	.	.	.	.	.	.	rs764220503	33/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,missense_variant,p.Arg1110Cys,ENST00000327697,;RNF123,missense_variant,p.Arg222Cys,ENST00000433785,;RNF123,downstream_gene_variant,,ENST00000432042,;AMIGO3,downstream_gene_variant,,ENST00000320431,;GMPPB,downstream_gene_variant,,ENST00000480687,;GMPPB,downstream_gene_variant,,ENST00000308375,;AMIGO3,downstream_gene_variant,,ENST00000535833,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000469978,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000444689,;RNF123,upstream_gene_variant,,ENST00000498376,;	3472	46	48	SUCCESS
MST1R	4486	.	GRCh37	3	49932696	49932696	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	39	108	0	ENST00000296474.3:c.3175C>T	p.Leu1059=	p.L1059=	ENST00000296474	NM_002447.2	1059	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2807.1	3175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTAGCTGGA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,PIRSF_domain:PIRSF000617	.	.	ENSP00000296474	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,synonymous_variant,p.%3D,ENST00000344206,;MST1R,synonymous_variant,p.%3D,ENST00000440292,;MST1R,synonymous_variant,p.%3D,ENST00000296474,;MST1R,intron_variant,,ENST00000434765,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;MST1R,synonymous_variant,p.%3D,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000490053,;MST1R,upstream_gene_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,downstream_gene_variant,,ENST00000493535,;MST1R,downstream_gene_variant,,ENST00000467110,;MST1R,downstream_gene_variant,,ENST00000485044,;	3203	108	134	SUCCESS
WNT5A	7474	.	GRCh37	3	55521145	55521145	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	35	0	ENST00000264634.4:c.-132G>C		p.*44*	ENST00000264634	NM_003392.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46850.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCCGGCGG	NONE	.	.	.	.	.	ENSP00000417310	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000474267	Transcript	.	.	ENSG00000114251	12784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT5A_HUMAN	WNT5A	HGNC	.	.	UPI0000231C66	SNV	WNT5A,5_prime_UTR_variant,,ENST00000264634,;WNT5A,5_prime_UTR_variant,,ENST00000474267,;WNT5A-AS1,upstream_gene_variant,,ENST00000469484,;	391	35	29	SUCCESS
CLDND1	56650	.	GRCh37	3	98240573	98240573	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	93	333	0	ENST00000341181.6:c.-18-287G>A		p.*6*	ENST00000341181	NM_001040183.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46877.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGACATACA	NONE	.	.	.	.	.	ENSP00000388457	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000437922	Transcript	.	.	ENSG00000080822	1322	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CLDND1	HGNC	J3KQ67_HUMAN,D6RIU2_HUMAN,D6RHU6_HUMAN,D6RFX6_HUMAN,D6RDY1_HUMAN,D6RDP6_HUMAN,D6RDI6_HUMAN,D6RD48_HUMAN,D6RCR8_HUMAN,D6RCP3_HUMAN,D6RCE6_HUMAN,D6RB31_HUMAN,D6RA76_HUMAN,D6R9S8_HUMAN	.	UPI0000469E7B	SNV	CLDND1,5_prime_UTR_variant,,ENST00000503004,;CLDND1,intron_variant,,ENST00000511667,;CLDND1,intron_variant,,ENST00000514537,;CLDND1,intron_variant,,ENST00000506575,;CLDND1,intron_variant,,ENST00000507944,;CLDND1,intron_variant,,ENST00000507874,;CLDND1,intron_variant,,ENST00000341181,;CLDND1,intron_variant,,ENST00000394181,;CLDND1,intron_variant,,ENST00000503621,;CLDND1,intron_variant,,ENST00000394185,;CLDND1,intron_variant,,ENST00000394180,;CLDND1,intron_variant,,ENST00000508659,;CLDND1,intron_variant,,ENST00000513452,;CLDND1,intron_variant,,ENST00000515620,;CLDND1,intron_variant,,ENST00000512147,;CLDND1,intron_variant,,ENST00000508902,;CLDND1,intron_variant,,ENST00000508071,;CLDND1,intron_variant,,ENST00000510541,;CLDND1,intron_variant,,ENST00000510545,;CLDND1,intron_variant,,ENST00000513287,;CLDND1,intron_variant,,ENST00000502299,;CLDND1,intron_variant,,ENST00000502288,;CLDND1,intron_variant,,ENST00000511081,;CLDND1,intron_variant,,ENST00000437922,;CLDND1,upstream_gene_variant,,ENST00000506885,;CLDND1,upstream_gene_variant,,ENST00000513873,;RP11-227H4.5,upstream_gene_variant,,ENST00000502999,;CLDND1,intron_variant,,ENST00000508503,;CLDND1,intron_variant,,ENST00000513988,;CPOX,intron_variant,,ENST00000512905,;CLDND1,intron_variant,,ENST00000503799,;CLDND1,intron_variant,,ENST00000502980,;CLDND1,intron_variant,,ENST00000507411,;CLDND1,upstream_gene_variant,,ENST00000506927,;RPL38P4,downstream_gene_variant,,ENST00000502376,;	.	333	268	SUCCESS
CPOX	1371	.	GRCh37	3	98299597	98299597	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	101	0	ENST00000264193.2:c.1295C>T	p.Ser432Leu	p.S432L	ENST00000264193	NM_000097.5	432	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS2932.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGAATGC	NONE	.	.	hmmpanther:PTHR10755,hmmpanther:PTHR10755:SF0,Pfam_domain:PF01218,Gene3D:3.40.1500.10,Superfamily_domains:SSF102886,Prints_domain:PR00073	.	.	ENSP00000264193	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264193	Transcript	.	.	ENSG00000080819	2321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.16)	.	HEM6_HUMAN	CPOX	HGNC	.	.	UPI0000073C93	SNV	CPOX,missense_variant,p.Ser432Leu,ENST00000264193,;CPOX,intron_variant,,ENST00000512905,;CPOX,downstream_gene_variant,,ENST00000510489,;	1514	101	93	SUCCESS
IL17RC	84818	.	GRCh37	3	9975230	9975230	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759564350	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	102	0	ENST00000295981.3:c.2329C>T	p.Arg777Cys	p.R777C	ENST00000295981	NM_153461.3	777	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2590.1	2329	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGACGCGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000295981	.	19/19	.	.	.	.	.	.	.	.	rs759564350	19/19	PASS	ENST00000295981	Transcript	.	.	ENSG00000163702	18358	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	I17RC_HUMAN	IL17RC	HGNC	.	.	UPI000013E2E3	SNV	IL17RC,missense_variant,p.Arg706Cys,ENST00000403601,;IL17RC,missense_variant,p.Arg674Cys,ENST00000455057,;IL17RC,missense_variant,p.Arg691Cys,ENST00000383812,;IL17RC,missense_variant,p.Arg693Cys,ENST00000413608,;IL17RC,missense_variant,p.Arg777Cys,ENST00000295981,;IL17RC,missense_variant,p.Arg532Cys,ENST00000416074,;CRELD1,upstream_gene_variant,,ENST00000452070,;IL17RC,downstream_gene_variant,,ENST00000436503,;CRELD1,upstream_gene_variant,,ENST00000326434,;IL17RC,downstream_gene_variant,,ENST00000438091,;CRELD1,upstream_gene_variant,,ENST00000383811,;CRELD1,upstream_gene_variant,,ENST00000397170,;RP11-1020A11.1,upstream_gene_variant,,ENST00000602411,;IL17RC,non_coding_transcript_exon_variant,,ENST00000498214,;IL17RC,3_prime_UTR_variant,,ENST00000451231,;IL17RC,3_prime_UTR_variant,,ENST00000451271,;IL17RC,non_coding_transcript_exon_variant,,ENST00000497387,;IL17RC,non_coding_transcript_exon_variant,,ENST00000466046,;IL17RC,non_coding_transcript_exon_variant,,ENST00000483582,;IL17RC,non_coding_transcript_exon_variant,,ENST00000494365,;CRELD1,upstream_gene_variant,,ENST00000465716,;IL17RC,downstream_gene_variant,,ENST00000412901,;IL17RC,downstream_gene_variant,,ENST00000466712,;CRELD1,upstream_gene_variant,,ENST00000491527,;CRELD1,upstream_gene_variant,,ENST00000414117,;IL17RC,downstream_gene_variant,,ENST00000465794,;IL17RC,downstream_gene_variant,,ENST00000464406,;IL17RC,downstream_gene_variant,,ENST00000461995,;	2547	102	77	SUCCESS
TRPC3	7222	.	GRCh37	4	122853582	122853582	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	8	166	0	ENST00000379645.3:c.831G>A	p.Arg277=	p.R277=	ENST00000379645	NM_001130698.1	277	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47130.1	831	MUTECT|MUSE	.	TCGTGCCTCTG	NONE	.	.	hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344	.	.	ENSP00000368966	.	2/12	.	.	.	.	.	.	.	.	COSM1050621	2/12	PASS	ENST00000379645	Transcript	.	.	ENSG00000138741	12335	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TRPC3_HUMAN	TRPC3	HGNC	Q4W5P7_HUMAN,D6R902_HUMAN	.	UPI00004C6F61	SNV	TRPC3,synonymous_variant,p.%3D,ENST00000264811,;TRPC3,synonymous_variant,p.%3D,ENST00000513531,;TRPC3,synonymous_variant,p.%3D,ENST00000379645,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,synonymous_variant,p.%3D,ENST00000506449,;	905	166	96	SUCCESS
FAT4	79633	.	GRCh37	4	126336041	126336041	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	156	0	ENST00000394329.3:c.5923A>T	p.Ile1975Phe	p.I1975F	ENST00000394329	NM_024582.4	1975	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS3732.3	5923	MUTECT|MUSE	.	CAGGCATCAAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ile1975Phe,ENST00000394329,;FAT4,missense_variant,p.Ile273Phe,ENST00000335110,;	5936	156	86	SUCCESS
JADE1	79960	.	GRCh37	4	129778563	129778563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	48	137	0	ENST00000226319.6:c.935C>A	p.Ala312Glu	p.A312E	ENST00000226319	NM_199320.2	312	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS34062.1	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGCTAG	NONE	.	.	hmmpanther:PTHR13793:SF79,hmmpanther:PTHR13793,Pfam_domain:PF13832	.	.	ENSP00000226319	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000226319	Transcript	.	.	ENSG00000077684	30027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	JADE1_HUMAN	JADE1	HGNC	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN	.	UPI000020B45B	SNV	JADE1,missense_variant,p.Ala300Glu,ENST00000452328,;JADE1,missense_variant,p.Ala312Glu,ENST00000512960,;JADE1,missense_variant,p.Ala312Glu,ENST00000511647,;JADE1,missense_variant,p.Ala312Glu,ENST00000413543,;JADE1,missense_variant,p.Ala312Glu,ENST00000226319,;	1215	137	92	SUCCESS
ABCE1	6059	.	GRCh37	4	146041189	146041189	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	72	241	0	ENST00000296577.4:c.1028A>C	p.Lys343Thr	p.K343T	ENST00000296577	NM_002940.2	343	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS34071.1	1028	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTAAAAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19248,PROSITE_profiles:PS50893	.	.	ENSP00000296577	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000296577	Transcript	.	.	ENSG00000164163	69	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.18)	.	ABCE1_HUMAN	ABCE1	HGNC	D6RGF4_HUMAN,D6R9I9_HUMAN	.	UPI0000001226	SNV	ABCE1,missense_variant,p.Lys343Thr,ENST00000296577,;ABCE1,non_coding_transcript_exon_variant,,ENST00000502803,;OTUD4,intron_variant,,ENST00000455611,;ABCE1,intron_variant,,ENST00000506506,;ABCE1,missense_variant,p.Lys343Thr,ENST00000507193,;ABCE1,upstream_gene_variant,,ENST00000504683,;ABCE1,downstream_gene_variant,,ENST00000504292,;ABCE1,upstream_gene_variant,,ENST00000515678,;ABCE1,upstream_gene_variant,,ENST00000509593,;ABCE1,upstream_gene_variant,,ENST00000510321,;	1543	242	148	SUCCESS
LDB2	9079	.	GRCh37	4	16900005	16900005	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	136	0	ENST00000304523.5:c.104T>C	p.Met35Thr	p.M35T	ENST00000304523	NM_001290.3	35	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS3420.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCATCTCA	NONE	.	.	Pfam_domain:PF01803,hmmpanther:PTHR10378,hmmpanther:PTHR10378:SF8	.	.	ENSP00000306772	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000304523	Transcript	.	.	ENSG00000169744	6533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.369)	.	deleterious(0)	.	LDB2_HUMAN	LDB2	HGNC	Q4W5E7_HUMAN,D6RAT1_HUMAN	.	UPI0000073D86	SNV	LDB2,missense_variant,p.Met11Thr,ENST00000506732,;LDB2,missense_variant,p.Met35Thr,ENST00000304523,;LDB2,missense_variant,p.Met35Thr,ENST00000515064,;LDB2,missense_variant,p.Met35Thr,ENST00000441778,;LDB2,missense_variant,p.Met35Thr,ENST00000502640,;LDB2,non_coding_transcript_exon_variant,,ENST00000510825,;LDB2,upstream_gene_variant,,ENST00000504189,;LDB2,missense_variant,p.Met35Thr,ENST00000508918,;LDB2,missense_variant,p.Met35Thr,ENST00000512345,;	428	136	95	SUCCESS
MED28	80306	.	GRCh37	4	17616334	17616342	+	inframe_deletion	In_Frame_Del	DEL	CCCGCCGGG	CCCGCCGGG	-	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	CCCGCCGGG	CCCGCCGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	66	41	134	0	ENST00000237380.7:c.59_67del	p.Pro20_Gly22del	p.P20_G22del	ENST00000237380	NM_025205.3	19	gcCCCGCCGGGc/gcc	0	.	.	.	.	.	-	APPG/A	protein_coding	YES	CCDS33963.1	57-65	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGGCCCCGCCGGGCCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13512,hmmpanther:PTHR13512:SF2	.	.	ENSP00000237380	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000237380	Transcript	.	.	ENSG00000118579	24628	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MED28_HUMAN	MED28	HGNC	.	.	UPI000006DB49	deletion	MED28,inframe_deletion,p.Pro20_Gly22del,ENST00000237380,;AC006160.5,upstream_gene_variant,,ENST00000511010,;MED28,inframe_deletion,p.Pro17_Gly19del,ENST00000503945,;MED28,non_coding_transcript_exon_variant,,ENST00000506409,;	81-89	134	107	SUCCESS
PDS5A	23244	.	GRCh37	4	39904058	39904058	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	65	253	0	ENST00000303538.8:c.1408G>T	p.Ala470Ser	p.A470S	ENST00000303538	NM_001100399.1	470	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47045.1	1408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCAAAGA	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2	.	.	ENSP00000303427	.	13/33	.	.	.	.	.	.	.	.	.	13/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	tolerated(0.72)	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,missense_variant,p.Ala470Ser,ENST00000503396,;PDS5A,missense_variant,p.Ala108Ser,ENST00000513798,;PDS5A,missense_variant,p.Ala470Ser,ENST00000303538,;PDS5A,3_prime_UTR_variant,,ENST00000512643,;PDS5A,downstream_gene_variant,,ENST00000503867,;	1948	253	184	SUCCESS
ANKRD17	26057	.	GRCh37	4	73943157	73943157	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	5	127	0	ENST00000358602.4:c.7502A>C	p.Glu2501Ala	p.E2501A	ENST00000358602	NM_032217.3	2501	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS34004.1	7502	MUTECT|MUSE	.	CTCGCTCCATT	NONE	.	.	hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	.	.	ENSP00000351416	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	SNV	ANKRD17,missense_variant,p.Glu2501Ala,ENST00000358602,;ANKRD17,missense_variant,p.Glu2388Ala,ENST00000509867,;ANKRD17,missense_variant,p.Glu2250Ala,ENST00000330838,;ANKRD17,missense_variant,p.Glu2385Ala,ENST00000558247,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000510127,;	7619	127	68	SUCCESS
ZNF474	133923	.	GRCh37	5	121488330	121488330	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	125	0	ENST00000296600.4:c.645C>T	p.Thr215=	p.T215=	ENST00000296600	NM_207317.1	215	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4130.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACCCCAGC	NONE	.	.	hmmpanther:PTHR13555,hmmpanther:PTHR13555:SF23	.	.	ENSP00000296600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000296600	Transcript	.	.	ENSG00000164185	23245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN474_HUMAN	ZNF474	HGNC	D6RFM9_HUMAN,D6RCA7_HUMAN	.	UPI0000160642	SNV	ZNF474,synonymous_variant,p.%3D,ENST00000296600,;ZNF474,downstream_gene_variant,,ENST00000505843,;ZNF474,downstream_gene_variant,,ENST00000504912,;CTC-441N14.2,intron_variant,,ENST00000504829,;CTC-441N14.1,downstream_gene_variant,,ENST00000505209,;ZNF474,intron_variant,,ENST00000514925,;CTC-441N14.4,upstream_gene_variant,,ENST00000515596,;	1028	125	110	SUCCESS
HARS2	23438	.	GRCh37	5	140075365	140075365	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	32	146	0	ENST00000230771.3:c.568del	p.Ala190GlnfsTer4	p.A190Qfs*4	ENST00000230771	NM_012208.3	190	Gca/ca	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS4238.1	568	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGATGCAGAG	NONE	.	.	PROSITE_profiles:PS50862,hmmpanther:PTHR11476:SF4,hmmpanther:PTHR11476,Gene3D:3.30.930.10,Pfam_domain:PF13393,TIGRFAM_domain:TIGR00442,PIRSF_domain:PIRSF001549,Superfamily_domains:SSF55681	.	.	ENSP00000230771	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000230771	Transcript	1	.	ENSG00000112855	4817	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYHM_HUMAN	HARS2	HGNC	.	.	UPI00001364C4	deletion	HARS2,frameshift_variant,p.Ala150GlnfsTer4,ENST00000435019,;HARS2,frameshift_variant,p.Ala116GlnfsTer4,ENST00000437649,;HARS2,frameshift_variant,p.Ala165GlnfsTer4,ENST00000508522,;HARS2,frameshift_variant,p.Ala190GlnfsTer4,ENST00000230771,;HARS2,frameshift_variant,p.Ala76GlnfsTer4,ENST00000432671,;HARS2,frameshift_variant,p.Ala51GlnfsTer4,ENST00000448069,;HARS2,downstream_gene_variant,,ENST00000509299,;HARS,upstream_gene_variant,,ENST00000448240,;HARS,upstream_gene_variant,,ENST00000431330,;HARS,upstream_gene_variant,,ENST00000504156,;HARS2,downstream_gene_variant,,ENST00000503873,;HARS,upstream_gene_variant,,ENST00000457527,;ZMAT2,upstream_gene_variant,,ENST00000519913,;HARS,upstream_gene_variant,,ENST00000507746,;HARS,upstream_gene_variant,,ENST00000307633,;HARS,upstream_gene_variant,,ENST00000415192,;ZMAT2,upstream_gene_variant,,ENST00000274712,;HARS,upstream_gene_variant,,ENST00000438307,;HARS2,downstream_gene_variant,,ENST00000502303,;HARS2,3_prime_UTR_variant,,ENST00000510104,;HARS2,non_coding_transcript_exon_variant,,ENST00000513688,;HARS2,downstream_gene_variant,,ENST00000506318,;HARS2,downstream_gene_variant,,ENST00000511913,;HARS2,downstream_gene_variant,,ENST00000520095,;HARS,upstream_gene_variant,,ENST00000502888,;HARS,upstream_gene_variant,,ENST00000512396,;ZMAT2,upstream_gene_variant,,ENST00000506644,;HARS,upstream_gene_variant,,ENST00000518126,;HARS,upstream_gene_variant,,ENST00000506579,;HARS2,downstream_gene_variant,,ENST00000513912,;	791	146	157	SUCCESS
PCDHGB4	8641	.	GRCh37	5	140768944	140768944	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	41	129	0	ENST00000519479.1:c.1493A>G	p.Glu498Gly	p.E498G	ENST00000519479	NM_003736.2	498	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS54928.1	1493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGAGCTGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000428288	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000519479	Transcript	.	.	ENSG00000253953	8711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0.01)	.	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F773	SNV	PCDHGB4,missense_variant,p.Glu498Gly,ENST00000519479,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA8,upstream_gene_variant,,ENST00000398604,;	1493	129	129	SUCCESS
PLCXD3	345557	.	GRCh37	5	41382514	41382514	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	110	0	ENST00000328457.3:c.226T>A	p.Trp76Arg	p.W76R	ENST00000328457	NM_001005473.2	76	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS34150.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCATTTCC	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Gene3D:3.20.20.190,SMART_domains:SM00148,Superfamily_domains:SSF51695	.	.	ENSP00000367032	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377801	Transcript	.	.	ENSG00000182836	31822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLCX3_HUMAN	PLCXD3	HGNC	B3KXD1_HUMAN	.	UPI0000049DBB	SNV	PLCXD3,missense_variant,p.Trp76Arg,ENST00000328457,;PLCXD3,missense_variant,p.Trp76Arg,ENST00000377801,;	301	110	87	SUCCESS
ASF1A	25842	.	GRCh37	6	119228720	119228720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	60	257	0	ENST00000229595.5:c.556T>C	p.Trp186Arg	p.W186R	ENST00000229595	NM_014034.2	186	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS47469.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGATGGTCC	NONE	.	.	hmmpanther:PTHR12040:SF3,hmmpanther:PTHR12040	.	.	ENSP00000229595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000229595	Transcript	.	.	ENSG00000111875	20995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.32)	.	ASF1A_HUMAN	ASF1A	HGNC	.	.	UPI000004CF64	SNV	ASF1A,missense_variant,p.Trp186Arg,ENST00000229595,;MCM9,intron_variant,,ENST00000316316,;MCM9,downstream_gene_variant,,ENST00000316068,;MCM9,downstream_gene_variant,,ENST00000436788,;	750	257	110	SUCCESS
SERAC1	84947	.	GRCh37	6	158535862	158535862	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781401323	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	155	0	ENST00000367104.3:c.1643A>G	p.Tyr548Cys	p.Y548C	ENST00000367104	NM_032861.3	548	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5255.1	1643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATAGCGA	NONE	.	.	hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF4,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000356071	.	15/17	.	.	.	.	.	.	.	.	rs781401323	15/17	PASS	ENST00000367104	Transcript	.	.	ENSG00000122335	21061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	SRAC1_HUMAN	SERAC1	HGNC	.	.	UPI0000070959	SNV	SERAC1,missense_variant,p.Tyr548Cys,ENST00000367104,;SERAC1,missense_variant,p.Tyr123Cys,ENST00000435180,;SERAC1,3_prime_UTR_variant,,ENST00000367101,;SERAC1,3_prime_UTR_variant,,ENST00000367102,;SERAC1,3_prime_UTR_variant,,ENST00000607071,;SERAC1,3_prime_UTR_variant,,ENST00000607742,;SERAC1,3_prime_UTR_variant,,ENST00000606965,;	1775	155	83	SUCCESS
DPCR1	0	.	GRCh37	6	30918187	30918187	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1467952356	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	44	150	0	ENST00000462446.1:c.1946C>T	p.Ala649Val	p.A649V	ENST00000462446		649	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4692.2	1946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCCAACG	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.1)	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Ala649Val,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	1974	150	105	SUCCESS
SLC44A4	80736	.	GRCh37	6	31833748	31833748	+	synonymous_variant	Silent	SNP	G	G	A	rs759574542	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	199	0	ENST00000229729.6:c.1389C>T	p.Cys463=	p.C463=	ENST00000229729	NM_025257.2	463	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS4724.2	1389	MUTECT|MUSE	.	AGGACGCATTG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37,Pfam_domain:PF04515	.	.	ENSP00000229729	.	14/21	.	.	.	.	.	.	.	.	rs759574542	14/21	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,synonymous_variant,p.%3D,ENST00000414427,;SLC44A4,synonymous_variant,p.%3D,ENST00000229729,;SLC44A4,synonymous_variant,p.%3D,ENST00000544672,;SLC44A4,synonymous_variant,p.%3D,ENST00000375562,;NEU1,upstream_gene_variant,,ENST00000375631,;SLC44A4,upstream_gene_variant,,ENST00000487680,;NEU1,upstream_gene_variant,,ENST00000495807,;SLC44A4,downstream_gene_variant,,ENST00000475563,;NEU1,upstream_gene_variant,,ENST00000491768,;NEU1,upstream_gene_variant,,ENST00000480384,;SLC44A4,downstream_gene_variant,,ENST00000479777,;	1410	199	148	SUCCESS
C2	717	.	GRCh37	6	31895872	31895872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	70	0	ENST00000299367.5:c.187C>A	p.Leu63Met	p.L63M	ENST00000299367	NM_000063.4	63	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	.	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCTGTGC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000410815	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.25)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Leu63Met,ENST00000456570,;CFB,missense_variant,p.Leu63Met,ENST00000477310,;CFB,missense_variant,p.Leu63Met,ENST00000556679,;C2,missense_variant,p.Leu63Met,ENST00000299367,;C2,missense_variant,p.Leu63Met,ENST00000413154,;C2,missense_variant,p.Leu63Met,ENST00000447952,;C2,missense_variant,p.Leu63Met,ENST00000418949,;C2,intron_variant,,ENST00000469372,;C2,intron_variant,,ENST00000442278,;C2,intron_variant,,ENST00000452202,;C2,intron_variant,,ENST00000497706,;C2,intron_variant,,ENST00000452323,;C2,intron_variant,,ENST00000383177,;C2,upstream_gene_variant,,ENST00000494905,;C2,missense_variant,p.Leu63Met,ENST00000482060,;C2,intron_variant,,ENST00000484636,;C2,intron_variant,,ENST00000411571,;	242	70	55	SUCCESS
C6orf222	0	.	GRCh37	6	36298079	36298079	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	62	0	ENST00000437635.2:c.389C>T	p.Ser130Phe	p.S130F	ENST00000437635	NM_001010903.4	130	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS34439.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGAGATA	NONE	.	.	hmmpanther:PTHR22435,hmmpanther:PTHR22435:SF0	.	.	ENSP00000418983	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000437635	Transcript	.	.	ENSG00000189325	33769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.265)	.	tolerated(0.06)	.	CF222_HUMAN	C6orf222	HGNC	.	.	UPI000022CB9B	SNV	C6orf222,missense_variant,p.Ser130Phe,ENST00000437635,;	567	62	63	SUCCESS
GLTSCR1L	0	.	GRCh37	6	42796515	42796515	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	40	118	0	ENST00000314073.5:c.444C>G	p.Ser148=	p.S148=	ENST00000314073		148	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS34451.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCCTTTAC	NONE	.	.	hmmpanther:PTHR15572:SF2,hmmpanther:PTHR15572	.	.	ENSP00000313933	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000314073	Transcript	.	.	ENSG00000112624	21111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSC1L_HUMAN	GLTSCR1L	HGNC	.	.	UPI0000161939	SNV	GLTSCR1L,synonymous_variant,p.%3D,ENST00000394168,;GLTSCR1L,synonymous_variant,p.%3D,ENST00000314073,;	620	118	104	SUCCESS
BAG2	9532	.	GRCh37	6	57037162	57037162	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	17	0	ENST00000370693.5:c.-334G>A		p.*112*	ENST00000370693	NM_004282.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4961.1	.	MUTECT|MUSE	.	TCTGCGTCCGC	NONE	.	.	.	.	.	ENSP00000359727	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370693	Transcript	.	.	ENSG00000112208	938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAG2_HUMAN	BAG2	HGNC	.	.	UPI0000126768	SNV	BAG2,5_prime_UTR_variant,,ENST00000370693,;ZNF451,downstream_gene_variant,,ENST00000357489,;ZNF451,downstream_gene_variant,,ENST00000370706,;BAG2,upstream_gene_variant,,ENST00000545080,;RP11-203B9.4,non_coding_transcript_exon_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000585414,;RP11-203B9.4,intron_variant,,ENST00000609545,;RP11-203B9.4,upstream_gene_variant,,ENST00000587815,;RP11-203B9.4,upstream_gene_variant,,ENST00000586432,;RP11-203B9.4,upstream_gene_variant,,ENST00000586053,;RP11-203B9.4,upstream_gene_variant,,ENST00000588811,;RP11-203B9.4,upstream_gene_variant,,ENST00000591553,;RP11-203B9.4,upstream_gene_variant,,ENST00000585792,;RP11-203B9.4,upstream_gene_variant,,ENST00000590164,;RP11-203B9.4,upstream_gene_variant,,ENST00000589263,;RP11-203B9.4,upstream_gene_variant,,ENST00000588819,;RP11-203B9.4,upstream_gene_variant,,ENST00000586234,;RP11-203B9.4,upstream_gene_variant,,ENST00000589312,;RP11-203B9.4,upstream_gene_variant,,ENST00000592038,;RP11-203B9.4,upstream_gene_variant,,ENST00000592500,;RP11-203B9.4,upstream_gene_variant,,ENST00000586466,;RP11-203B9.4,upstream_gene_variant,,ENST00000592785,;RP11-203B9.4,upstream_gene_variant,,ENST00000586668,;RP11-203B9.4,upstream_gene_variant,,ENST00000589549,;RP11-203B9.4,upstream_gene_variant,,ENST00000589394,;ZNF451,downstream_gene_variant,,ENST00000504603,;ZNF451,downstream_gene_variant,,ENST00000504364,;	39	17	12	SUCCESS
TBX18	9096	.	GRCh37	6	85446578	85446578	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781249482	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	58	194	0	ENST00000369663.5:c.1649C>A	p.Ser550Tyr	p.S550Y	ENST00000369663	NM_001080508.2	550	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34495.1	1649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	rs781249482,COSM4155306	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.986)	.	deleterious(0.01)	0,1	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	SNV	TBX18,missense_variant,p.Ser550Tyr,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;	1987	194	150	SUCCESS
AGFG2	3268	.	GRCh37	7	100160302	100160302	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	46	0	ENST00000300176.4:c.1084G>A	p.Gly362Arg	p.G362R	ENST00000300176	NM_006076.4	362	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS5697.1	1084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGGAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF233,hmmpanther:PTHR23180	.	.	ENSP00000300176	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000300176	Transcript	.	.	ENSG00000106351	5177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	AGFG2_HUMAN	AGFG2	HGNC	A4D2D6_HUMAN	.	UPI000003E7D5	SNV	AGFG2,missense_variant,p.Gly104Arg,ENST00000429987,;AGFG2,missense_variant,p.Gly362Arg,ENST00000300176,;AGFG2,3_prime_UTR_variant,,ENST00000262935,;AGFG2,non_coding_transcript_exon_variant,,ENST00000474713,;AGFG2,3_prime_UTR_variant,,ENST00000430857,;	1206	46	24	SUCCESS
SRRT	51593	.	GRCh37	7	100483551	100483552	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	96	29	127	0	ENST00000347433.4:c.1448dup	p.Asn484GlufsTer8	p.N484Efs*8	ENST00000347433		483	cag/cAag	0	.	.	.	.	.	A	Q/QX	protein_coding	YES	CCDS34709.1	1447-1448	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTGCAGAAC	NONE	.	.	hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0,Superfamily_domains:SSF54928	.	.	ENSP00000314491	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000347433	Transcript	.	.	ENSG00000087087	24101	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRRT_HUMAN	SRRT	HGNC	.	.	UPI0000126098	insertion	SRRT,frameshift_variant,p.Asn114GlufsTer8,ENST00000448764,;SRRT,frameshift_variant,p.Asn483GlufsTer8,ENST00000388793,;SRRT,frameshift_variant,p.Asn484GlufsTer8,ENST00000457580,;SRRT,frameshift_variant,p.Asn484GlufsTer8,ENST00000347433,;SRRT,frameshift_variant,p.Asn483GlufsTer8,ENST00000432932,;ACHE,downstream_gene_variant,,ENST00000241069,;ACHE,downstream_gene_variant,,ENST00000419336,;SRRT,downstream_gene_variant,,ENST00000431645,;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000426415,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000412389,;UFSP1,downstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000302913,;SRRT,3_prime_UTR_variant,,ENST00000449389,;SRRT,non_coding_transcript_exon_variant,,ENST00000466432,;ACHE,downstream_gene_variant,,ENST00000442452,;SRRT,upstream_gene_variant,,ENST00000469602,;SRRT,downstream_gene_variant,,ENST00000448716,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000445337,;ACHE,downstream_gene_variant,,ENST00000454485,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,upstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000460194,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;	1605-1606	127	125	SUCCESS
TRIM56	81844	.	GRCh37	7	100732328	100732328	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765379859	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	29	0	ENST00000306085.6:c.1735G>A	p.Val579Met	p.V579M	ENST00000306085	NM_030961.1	579	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS43625.1	1735	RADIA|MUTECT|MUSE	.	GCGAAGTGCAG	BUFFER|p.N576N|c.1728C>T|3,BUFFER|p.N576N|c.1728C>T|3	.	.	Superfamily_domains:0047643,Gene3D:2.120.10.30,hmmpanther:PTHR24103:SF287,hmmpanther:PTHR24103	.	.	ENSP00000305161	.	3/3	.	.	.	.	.	.	.	.	rs765379859	3/3	PASS	ENST00000306085	Transcript	.	.	ENSG00000169871	19028	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.703)	.	deleterious(0.01)	.	TRI56_HUMAN	TRIM56	HGNC	.	.	UPI0000171C4A	SNV	TRIM56,missense_variant,p.Val579Met,ENST00000306085,;TRIM56,intron_variant,,ENST00000412507,;RP11-395B7.7,upstream_gene_variant,,ENST00000564977,;TRIM56,upstream_gene_variant,,ENST00000487252,;TRIM56,downstream_gene_variant,,ENST00000467847,;	2032	29	29	SUCCESS
DLD	1738	.	GRCh37	7	107558474	107558474	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	32	189	0	ENST00000205402.5:c.1342G>A	p.Asp448Asn	p.D448N	ENST00000205402	NM_000108.3	448	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS5749.1	1342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGACAGA	NONE	.	.	Superfamily_domains:SSF55424,TIGRFAM_domain:TIGR01350,Gene3D:3.30.390.30,Pfam_domain:PF02852,hmmpanther:PTHR22912:SF20,hmmpanther:PTHR22912	.	.	ENSP00000205402	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000205402	Transcript	.	.	ENSG00000091140	2898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	DLDH_HUMAN	DLD	HGNC	B4DHG0_HUMAN	.	UPI0000072725	SNV	DLD,missense_variant,p.Asp448Asn,ENST00000205402,;DLD,missense_variant,p.Asp400Asn,ENST00000437604,;DLD,missense_variant,p.Asp425Asn,ENST00000440410,;DLD,missense_variant,p.Asp349Asn,ENST00000537148,;DLD,missense_variant,p.Asp448Asn,ENST00000417551,;DLD,3_prime_UTR_variant,,ENST00000415325,;DLD,downstream_gene_variant,,ENST00000451081,;	1623	189	163	SUCCESS
NRCAM	4897	.	GRCh37	7	107818532	107818532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	48	166	0	ENST00000379028.3:c.2877G>T	p.Lys959Asn	p.K959N	ENST00000379028		959	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS47686.1	2877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATCTTCAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000368314	.	26/33	.	.	.	.	.	.	.	.	.	26/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	tolerated(0.19)	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,missense_variant,p.Lys959Asn,ENST00000379022,;NRCAM,missense_variant,p.Lys943Asn,ENST00000351718,;NRCAM,missense_variant,p.Lys940Asn,ENST00000413765,;NRCAM,missense_variant,p.Lys940Asn,ENST00000379024,;NRCAM,missense_variant,p.Lys959Asn,ENST00000379028,;NRCAM,missense_variant,p.Lys959Asn,ENST00000425651,;NRCAM,upstream_gene_variant,,ENST00000445634,;NRCAM,non_coding_transcript_exon_variant,,ENST00000465585,;NRCAM,upstream_gene_variant,,ENST00000415105,;	3348	166	144	SUCCESS
CTAGE4	100128553	.	GRCh37	7	143881267	143881267	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	42	265	0	ENST00000486333.1:c.671A>C	p.Lys224Thr	p.K224T	ENST00000486333	NM_198495.2	224	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS55176.1	671	RADIA|VARSCANS	.	CCATAAACAGC	BUFFER|p.Q220Q|c.660G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39	.	.	ENSP00000419539	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000486333	Transcript	.	.	ENSG00000225932	24772	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.105)	.	tolerated(0.08)	.	CTGE4_HUMAN	CTAGE4	HGNC	.	.	UPI00001C1E89	SNV	CTAGE4,missense_variant,p.Lys224Thr,ENST00000486333,;ARHGEF35,downstream_gene_variant,,ENST00000543357,;ARHGEF35,downstream_gene_variant,,ENST00000378115,;AC004889.1,non_coding_transcript_exon_variant,,ENST00000436946,;	709	265	244	SUCCESS
KRBA1	84626	.	GRCh37	7	149419576	149419576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	94	342	0	ENST00000319551.8:c.530G>T	p.Ser177Ile	p.S177I	ENST00000319551		177	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	.	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGCCCTC	NONE	.	.	hmmpanther:PTHR22740	.	.	ENSP00000255992	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000255992	Transcript	.	.	ENSG00000133619	22228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	tolerated(0.09)	.	.	KRBA1	HGNC	C9J5U6_HUMAN,C4P1W5_HUMAN	.	UPI000049E0A4	SNV	KRBA1,missense_variant,p.Ser177Ile,ENST00000485033,;KRBA1,missense_variant,p.Ser177Ile,ENST00000319551,;KRBA1,missense_variant,p.Ser177Ile,ENST00000255992,;KRBA1,downstream_gene_variant,,ENST00000486744,;KRBA1,downstream_gene_variant,,ENST00000497895,;KRBA1,downstream_gene_variant,,ENST00000467333,;KRBA1,non_coding_transcript_exon_variant,,ENST00000479560,;KRBA1,non_coding_transcript_exon_variant,,ENST00000466546,;KRBA1,missense_variant,p.Ser134Ile,ENST00000496259,;KRBA1,upstream_gene_variant,,ENST00000496080,;	929	342	310	SUCCESS
AC004985.12	0	.	GRCh37	7	44005533	44005533	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	37	150	1	ENST00000418645.1:n.751G>A		p.*251*	ENST00000418645				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCACCCGCA	NONE	.	.	.	.	.	.	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000454572	Transcript	.	.	ENSG00000273432	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP5-1165K10.2	Clone_based_vega_gene	.	.	.	SNV	RP5-1165K10.2,non_coding_transcript_exon_variant,,ENST00000454572,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000427076,;POLR2J4,downstream_gene_variant,,ENST00000422304,;AC004985.12,non_coding_transcript_exon_variant,,ENST00000418645,;	604	152	115	SUCCESS
AP5Z1	9907	.	GRCh37	7	4815305	4815305	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs780199542	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	54	0	ENST00000348624.4:c.-42T>A		p.*14*	ENST00000348624	NM_014855.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47528.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGAGT	NONE	.	.	.	.	.	ENSP00000297562	.	1/17	.	.	.	.	.	.	.	.	rs780199542	1/17	PASS	ENST00000348624	Transcript	.	.	ENSG00000242802	22197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP5Z1_HUMAN	AP5Z1	HGNC	A4D1Z4_HUMAN	.	UPI00003E5903	SNV	AP5Z1,5_prime_UTR_variant,,ENST00000401897,;AP5Z1,5_prime_UTR_variant,,ENST00000348624,;FOXK1,downstream_gene_variant,,ENST00000328914,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;	53	54	37	SUCCESS
USP42	84132	.	GRCh37	7	6189723	6189723	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	100	0	ENST00000306177.5:c.1896G>A	p.Val632=	p.V632=	ENST00000306177	NM_032172.2	632	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47535.1	1896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGAGCTC	NONE	.	.	hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	.	ENSP00000301962	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,downstream_gene_variant,,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;	2054	100	78	SUCCESS
FAM133B	257415	.	GRCh37	7	92191657	92191657	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	9	0	ENST00000445716.1:c.683A>T	p.His228Leu	p.H228L	ENST00000445716	NM_152789.2	228	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS47640.1	683	RADIA|MUTECT|MUSE	.	TCTTATGCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31911,hmmpanther:PTHR31911:SF3	.	.	ENSP00000398401	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000445716	Transcript	.	.	ENSG00000234545	28629	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.35)	.	F133B_HUMAN	FAM133B	HGNC	C9JUX2_HUMAN	.	UPI000004471D	SNV	FAM133B,missense_variant,p.His228Leu,ENST00000445716,;FAM133B,missense_variant,p.His218Leu,ENST00000438306,;FAM133B,missense_variant,p.His218Leu,ENST00000427372,;FAM133B,downstream_gene_variant,,ENST00000494079,;FAM133B,3_prime_UTR_variant,,ENST00000415397,;FAM133B,non_coding_transcript_exon_variant,,ENST00000481407,;FAM133B,downstream_gene_variant,,ENST00000468931,;	786	9	13	SUCCESS
DLX5	1749	.	GRCh37	7	96650094	96650094	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762498461	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	109	0	ENST00000222598.4:c.824G>A	p.Gly275Asp	p.G275D	ENST00000222598	NM_005221.5	275	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5647.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCCCGGC	NONE	byFrequency	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF31	.	.	ENSP00000222598	.	3/3	.	.	.	.	.	.	.	.	rs762498461	3/3	PASS	ENST00000222598	Transcript	.	.	ENSG00000105880	2918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.441)	.	tolerated(0.18)	.	DLX5_HUMAN	DLX5	HGNC	Q53Y73_HUMAN	.	UPI00001294B7	SNV	DLX5,missense_variant,p.Gly275Asp,ENST00000222598,;DLX5,downstream_gene_variant,,ENST00000486603,;DLX5,non_coding_transcript_exon_variant,,ENST00000493764,;	1298	109	91	SUCCESS
PTK2	5747	.	GRCh37	8	141716266	141716266	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	39	199	1	ENST00000521059.1:c.2181A>G	p.Glu727=	p.E727=	ENST00000521059	NM_005607.4	727	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS56557.1	2181	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTTCGCT	NONE	.	.	hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418	.	.	ENSP00000341189	.	24/33	.	.	.	.	.	.	.	.	.	24/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,synonymous_variant,p.%3D,ENST00000538769,;PTK2,synonymous_variant,p.%3D,ENST00000519465,;PTK2,synonymous_variant,p.%3D,ENST00000519654,;PTK2,synonymous_variant,p.%3D,ENST00000522424,;PTK2,synonymous_variant,p.%3D,ENST00000340930,;PTK2,synonymous_variant,p.%3D,ENST00000535192,;PTK2,synonymous_variant,p.%3D,ENST00000521986,;PTK2,synonymous_variant,p.%3D,ENST00000523539,;PTK2,synonymous_variant,p.%3D,ENST00000523388,;PTK2,synonymous_variant,p.%3D,ENST00000522684,;PTK2,synonymous_variant,p.%3D,ENST00000521059,;PTK2,synonymous_variant,p.%3D,ENST00000521562,;PTK2,synonymous_variant,p.%3D,ENST00000519419,;PTK2,synonymous_variant,p.%3D,ENST00000395218,;PTK2,synonymous_variant,p.%3D,ENST00000430260,;PTK2,synonymous_variant,p.%3D,ENST00000517887,;PTK2,upstream_gene_variant,,ENST00000521985,;PTK2,3_prime_UTR_variant,,ENST00000521981,;PTK2,3_prime_UTR_variant,,ENST00000521029,;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000519993,;PTK2,3_prime_UTR_variant,,ENST00000521250,;PTK2,non_coding_transcript_exon_variant,,ENST00000518173,;	2336	200	247	SUCCESS
RBPMS	11030	.	GRCh37	8	30361845	30361845	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	34	110	0	ENST00000320203.4:c.289G>T	p.Glu97Ter	p.E97*	ENST00000320203	NM_006867.3	97	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34876.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTAGAGTTT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,hmmpanther:PTHR12742:SF2,hmmpanther:PTHR12742,PROSITE_profiles:PS50102	.	.	ENSP00000340176	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000339877	Transcript	.	.	ENSG00000157110	19097	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBPMS_HUMAN	RBPMS	HGNC	E5RJD7_HUMAN,E5RFP4_HUMAN	.	UPI000002B229	SNV	RBPMS,stop_gained,p.Glu97Ter,ENST00000517860,;RBPMS,stop_gained,p.Glu97Ter,ENST00000320203,;RBPMS,stop_gained,p.Glu97Ter,ENST00000538486,;RBPMS,stop_gained,p.Glu97Ter,ENST00000339877,;RBPMS,stop_gained,p.Glu97Ter,ENST00000397323,;RBPMS,stop_gained,p.Glu97Ter,ENST00000287771,;RBPMS,5_prime_UTR_variant,,ENST00000520161,;RBPMS,5_prime_UTR_variant,,ENST00000523115,;RBPMS,5_prime_UTR_variant,,ENST00000519647,;RBPMS,5_prime_UTR_variant,,ENST00000520191,;RBPMS,non_coding_transcript_exon_variant,,ENST00000523717,;RBPMS,downstream_gene_variant,,ENST00000522708,;RBPMS,stop_gained,p.Glu31Ter,ENST00000522694,;RBPMS,stop_gained,p.Glu73Ter,ENST00000519359,;	871	111	108	SUCCESS
TPD52	7163	.	GRCh37	8	80992707	80992707	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs774343449	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	87	0	ENST00000379097.3:c.-19C>T		p.*7*	ENST00000379097	NM_001025252.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34912.1	.	MUTECT|MUSE	.	AGAATGCATGG	NONE	.	.	.	.	.	ENSP00000368391	.	1/6	.	.	.	.	.	.	.	.	rs774343449	1/6	PASS	ENST00000379097	Transcript	.	.	ENSG00000076554	12005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPD52_HUMAN	TPD52	HGNC	.	.	UPI000000D76B	SNV	TPD52,5_prime_UTR_variant,,ENST00000517427,;TPD52,5_prime_UTR_variant,,ENST00000379097,;TPD52,5_prime_UTR_variant,,ENST00000520527,;TPD52,5_prime_UTR_variant,,ENST00000537855,;TPD52,5_prime_UTR_variant,,ENST00000448733,;TPD52,intron_variant,,ENST00000379096,;TPD52,intron_variant,,ENST00000520795,;TPD52,intron_variant,,ENST00000518937,;TPD52,intron_variant,,ENST00000519303,;TPD52,intron_variant,,ENST00000519250,;TPD52,intron_variant,,ENST00000521561,;TPD52,upstream_gene_variant,,ENST00000523783,;TPD52,5_prime_UTR_variant,,ENST00000517462,;TPD52,non_coding_transcript_exon_variant,,ENST00000522364,;TPD52,non_coding_transcript_exon_variant,,ENST00000520741,;TPD52,intron_variant,,ENST00000521354,;TPD52,intron_variant,,ENST00000523753,;TPD52,intron_variant,,ENST00000521241,;TPD52,intron_variant,,ENST00000518517,;	345	87	78	SUCCESS
RALYL	138046	.	GRCh37	8	85774619	85774619	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	15	64	0	ENST00000521268.1:c.502A>C	p.Arg168=	p.R168=	ENST00000521268	NM_173848.5	168	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS55252.1	541	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCAGGGGG	NONE	.	.	hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000430128	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000517638	Transcript	.	.	ENSG00000184672	27036	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RALYL	HGNC	G3V129_HUMAN,E5RIX9_HUMAN,E5RG71_HUMAN	.	UPI00002108E6	SNV	RALYL,synonymous_variant,p.%3D,ENST00000521376,;RALYL,synonymous_variant,p.%3D,ENST00000523850,;RALYL,synonymous_variant,p.%3D,ENST00000521695,;RALYL,synonymous_variant,p.%3D,ENST00000521268,;RALYL,synonymous_variant,p.%3D,ENST00000518566,;RALYL,synonymous_variant,p.%3D,ENST00000522455,;RALYL,synonymous_variant,p.%3D,ENST00000517638,;RP11-98H4.4,downstream_gene_variant,,ENST00000521595,;	665	64	106	SUCCESS
CDH17	1015	.	GRCh37	8	95182668	95182668	+	synonymous_variant	Silent	SNP	C	C	T	rs765227677	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	15	202	0	ENST00000027335.3:c.1023G>A	p.Pro341=	p.P341=	ENST00000027335	NM_004063.3	341	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6260.1	1023	MUTECT|MUSE	.	GGTGACGGACA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000027335	.	9/18	.	.	.	.	.	.	.	.	rs765227677	9/18	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,synonymous_variant,p.%3D,ENST00000450165,;CDH17,synonymous_variant,p.%3D,ENST00000027335,;CDH17,intron_variant,,ENST00000441892,;CDH17,downstream_gene_variant,,ENST00000521491,;	1148	202	226	SUCCESS
WDR38	401551	.	GRCh37	9	127619833	127619834	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs749634832	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	88	14	86	0	ENST00000373574.1:c.870dup	p.Val291SerfsTer9	p.V291Sfs*9	ENST00000373574	NM_001045476.2	290	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS43876.1	869-870	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCTTAGTGT	NONE	byFrequency	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362677	.	9/9	.	.	.	.	.	.	.	.	rs749634832	9/9	PASS	ENST00000373574	Transcript	.	.	ENSG00000136918	23745	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR38_HUMAN	WDR38	HGNC	.	.	UPI00004A0D82	insertion	WDR38,frameshift_variant,p.Val291SerfsTer9,ENST00000373574,;RPL35,downstream_gene_variant,,ENST00000348462,;ARPC5L,upstream_gene_variant,,ENST00000353214,;RPL35,downstream_gene_variant,,ENST00000373570,;RPL35,downstream_gene_variant,,ENST00000493018,;RPL35,downstream_gene_variant,,ENST00000487431,;RPL35,downstream_gene_variant,,ENST00000495728,;	925-926	86	102	SUCCESS
CCIN	881	.	GRCh37	9	36169649	36169649	+	synonymous_variant	Silent	SNP	C	C	A	rs766610144	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	56	174	0	ENST00000335119.2:c.150C>A	p.Ser50=	p.S50=	ENST00000335119	NM_005893.2	50	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6599.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCCCCACT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF163,PROSITE_profiles:PS50097	.	.	ENSP00000334996	.	1/1	.	.	.	.	.	.	.	.	rs766610144	1/1	PASS	ENST00000335119	Transcript	.	.	ENSG00000185972	1568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALI_HUMAN	CCIN	HGNC	Q8WX35_HUMAN	.	UPI000006EB8E	SNV	CCIN,synonymous_variant,p.%3D,ENST00000335119,;	261	174	142	SUCCESS
FOXB2	442425	.	GRCh37	9	79635418	79635418	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	89	0	ENST00000376708.1:c.848T>A	p.Val283Glu	p.V283E	ENST00000376708	NM_001013735.1	283	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS35045.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGTGCTGC	NONE	.	.	hmmpanther:PTHR11829:SF76,hmmpanther:PTHR11829	.	.	ENSP00000365898	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000376708	Transcript	.	.	ENSG00000204612	23315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	FOXB2_HUMAN	FOXB2	HGNC	.	.	UPI00004588EE	SNV	FOXB2,missense_variant,p.Val283Glu,ENST00000376708,;	848	89	68	SUCCESS
VPS13A	23230	.	GRCh37	9	79922965	79922965	+	synonymous_variant	Silent	SNP	A	A	G	rs970555193	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	66	349	0	ENST00000360280.3:c.4065A>G	p.Gln1355=	p.Q1355=	ENST00000360280	NM_033305.2	1355	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS6655.1	4065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAATACAG	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	35/72	.	.	.	.	.	.	.	.	.	35/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,synonymous_variant,p.%3D,ENST00000357409,;VPS13A,synonymous_variant,p.%3D,ENST00000376634,;VPS13A,synonymous_variant,p.%3D,ENST00000376636,;VPS13A,synonymous_variant,p.%3D,ENST00000360280,;VPS13A,non_coding_transcript_exon_variant,,ENST00000423463,;VPS13A,3_prime_UTR_variant,,ENST00000493341,;	4325	349	256	SUCCESS
SPANXC	64663	.	GRCh37	X	140336533	140336533	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	196	288	0	ENST00000358993.2:c.58G>T	p.Glu20Ter	p.E20*	ENST00000358993	NM_022661.2	20	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14673.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCGTTGG	NONE	.	.	hmmpanther:PTHR23425:SF1,hmmpanther:PTHR23425,Pfam_domain:PF07458	.	.	ENSP00000351884	.	1/2	.	.	.	.	.	.	.	.	COSM3800427	1/2	PASS	ENST00000358993	Transcript	.	.	ENSG00000198573	14331	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SPNXC_HUMAN	SPANXC	HGNC	.	.	UPI000003B20F	SNV	SPANXC,stop_gained,p.Glu20Ter,ENST00000358993,;	97	288	266	SUCCESS
NHS	4810	.	GRCh37	X	17745169	17745169	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	84	143	0	ENST00000380060.3:c.2880del	p.Glu961ArgfsTer87	p.E961Rfs*87	ENST00000380060	NM_198270.2	960	ccA/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS14181.1	2880	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCTCCAGAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039,Pfam_domain:PF15273	.	.	ENSP00000369400	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000380060	Transcript	.	.	ENSG00000188158	7820	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NHS_HUMAN	NHS	HGNC	.	.	UPI00001DFBF3	deletion	NHS,frameshift_variant,p.Glu961ArgfsTer87,ENST00000380060,;NHS,frameshift_variant,p.Glu805ArgfsTer87,ENST00000398097,;NHS,downstream_gene_variant,,ENST00000485305,;	3218	143	203	SUCCESS
HUWE1	10075	.	GRCh37	X	53576460	53576460	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	24	0	ENST00000262854.6:c.9495T>C	p.Ser3165=	p.S3165=	ENST00000262854	NM_031407.5	3165	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS35301.1	9495	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAGAAGG	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	66/83	.	.	.	.	.	.	.	.	.	66/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;HUWE1,synonymous_variant,p.%3D,ENST00000427052,;HUWE1,synonymous_variant,p.%3D,ENST00000426907,;HUWE1,upstream_gene_variant,,ENST00000474288,;HUWE1,upstream_gene_variant,,ENST00000468322,;	9953	24	22	SUCCESS
ENTPD7	57089	.	GRCh37	10	101439111	101439111	+	synonymous_variant	Silent	SNP	C	C	G	rs774747547	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	47	118	0	ENST00000370489.4:c.285C>G	p.Ser95=	p.S95=	ENST00000370489	NM_020354.3	95	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7480.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCCGGAT	NONE	byFrequency	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF37,Pfam_domain:PF01150	.	.	ENSP00000359520	.	4/13	.	.	.	.	.	.	.	.	rs774747547	4/13	PASS	ENST00000370489	Transcript	.	.	ENSG00000198018	19745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP7_HUMAN	ENTPD7	HGNC	.	.	UPI0000047E1C	SNV	ENTPD7,synonymous_variant,p.%3D,ENST00000370489,;	463	118	152	SUCCESS
PNLIPRP2	5408	.	GRCh37	10	118394381	118394381	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	7	104	0	ENST00000537242.1:c.847C>G	p.Leu283Val	p.L283V	ENST00000537242	NM_005396.4	283	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	.	847	MUTECT|MUSE	.	ATCACCTAAGA	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821	.	.	ENSP00000446346	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000537242	Transcript	.	.	ENSG00000165862	9157	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.478)	.	tolerated(0.08)	.	.	PNLIPRP2	HGNC	F5H1V6_HUMAN	.	UPI0000D60FDD	SNV	PNLIPRP2,missense_variant,p.Leu283Val,ENST00000537242,;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000298771,;PNLIPRP2,synonymous_variant,p.%3D,ENST00000433618,;	873	104	148	SUCCESS
PWWP2B	170394	.	GRCh37	10	134219298	134219298	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	31	0	ENST00000305233.5:c.1294A>G	p.Arg432Gly	p.R432G	ENST00000305233	NM_138499.3	432	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS7667.2	1294	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCAGATCG	NONE	.	.	hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF6	.	.	ENSP00000306324	.	2/3	.	.	.	.	.	.	.	.	COSM1222800	2/3	PASS	ENST00000305233	Transcript	.	.	ENSG00000171813	25150	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.076)	.	deleterious(0)	1	PWP2B_HUMAN	PWWP2B	HGNC	.	.	UPI00001D7FE3	SNV	PWWP2B,missense_variant,p.Arg432Gly,ENST00000305233,;PWWP2B,missense_variant,p.Arg432Gly,ENST00000368609,;	1353	31	42	SUCCESS
KNDC1	85442	.	GRCh37	10	135011997	135011997	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	55	143	0	ENST00000304613.3:c.2063T>A	p.Val688Glu	p.V688E	ENST00000304613		688	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS7674.1	2063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGTGGCCA	NONE	.	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	.	.	ENSP00000304437	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.19)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Val623Glu,ENST00000368571,;KNDC1,missense_variant,p.Val688Glu,ENST00000304613,;KNDC1,missense_variant,p.Val688Glu,ENST00000368572,;	2084	144	154	SUCCESS
FUOM	282969	.	GRCh37	10	135169315	135169315	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	69	0	ENST00000278025.4:c.325A>G	p.Arg109Gly	p.R109G	ENST00000278025	NM_198472.2	109	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS44499.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCTCTGGA	NONE	.	.	hmmpanther:PTHR31690,hmmpanther:PTHR31690:SF4,Gene3D:2ob5A00,Pfam_domain:PF05025,Superfamily_domains:SSF102546	.	.	ENSP00000357540	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368552	Transcript	.	.	ENSG00000148803	24733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.4)	.	FUCM_HUMAN	FUOM	HGNC	.	.	UPI00001D7FDE	SNV	FUOM,missense_variant,p.Arg109Gly,ENST00000368552,;FUOM,missense_variant,p.Arg109Gly,ENST00000278025,;FUOM,missense_variant,p.Arg65Gly,ENST00000447176,;FUOM,missense_variant,p.Arg64Gly,ENST00000368551,;PRAP1,downstream_gene_variant,,ENST00000458230,;PRAP1,downstream_gene_variant,,ENST00000433452,;PRAP1,downstream_gene_variant,,ENST00000423766,;ZNF511,downstream_gene_variant,,ENST00000368554,;FUOM,splice_region_variant,,ENST00000465384,;FUOM,splice_region_variant,,ENST00000478895,;PRAP1,downstream_gene_variant,,ENST00000463201,;	343	69	81	SUCCESS
TRDMT1	1787	.	GRCh37	10	17191063	17191063	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	50	0	ENST00000377799.3:c.1152A>G	p.Lys384=	p.K384=	ENST00000377799	NM_004412.5	384	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS7114.1	1152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGTTTAGC	NONE	.	.	PROSITE_profiles:PS51679,hmmpanther:PTHR10629,PROSITE_patterns:PS00095,Pfam_domain:PF00145,TIGRFAM_domain:TIGR00675,Superfamily_domains:SSF53335	.	.	ENSP00000367030	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000377799	Transcript	.	.	ENSG00000107614	2977	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRDMT_HUMAN	TRDMT1	HGNC	Q6ICS7_HUMAN	.	UPI0000129698	SNV	TRDMT1,synonymous_variant,p.%3D,ENST00000457442,;TRDMT1,synonymous_variant,p.%3D,ENST00000377799,;TRDMT1,synonymous_variant,p.%3D,ENST00000412821,;TRDMT1,synonymous_variant,p.%3D,ENST00000351358,;TRDMT1,3_prime_UTR_variant,,ENST00000358282,;TRDMT1,3_prime_UTR_variant,,ENST00000377766,;TRDMT1,downstream_gene_variant,,ENST00000488990,;TRDMT1,downstream_gene_variant,,ENST00000452380,;TRDMT1,3_prime_UTR_variant,,ENST00000354631,;TRDMT1,3_prime_UTR_variant,,ENST00000495022,;	1200	50	58	SUCCESS
FZD8	8325	.	GRCh37	10	35930122	35930122	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	48	0	ENST00000374694.1:c.236A>G	p.Gln79Arg	p.Q79R	ENST00000374694	NM_031866.2	79	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7192.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACTGGATC	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF77,hmmpanther:PTHR11309,Pfam_domain:PF01392,Gene3D:1ijyA00,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000363826	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374694	Transcript	.	.	ENSG00000177283	4046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	FZD8_HUMAN	FZD8	HGNC	.	.	UPI0000047F3B	SNV	FZD8,missense_variant,p.Gln79Arg,ENST00000374694,;MIR4683,mature_miRNA_variant,,ENST00000579659,;	241	48	78	SUCCESS
GPRIN2	9721	.	GRCh37	10	46998926	46998926	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs988211125	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	99	0	ENST00000374314.4:c.46C>T	p.Pro16Ser	p.P16S	ENST00000374314		16	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS31192.1	46	RADIA|MUTECT|MUSE	.	TGAGCCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15718	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.676)	.	deleterious_low_confidence(0.02)	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,missense_variant,p.Pro16Ser,ENST00000374314,;GPRIN2,missense_variant,p.Pro16Ser,ENST00000374317,;	1001	99	101	SUCCESS
CDH23	64072	.	GRCh37	10	73560473	73560473	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	63	0	ENST00000224721.6:c.7458T>A	p.Pro2486=	p.P2486=	ENST00000224721	NM_022124.5	2486	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS53540.1	723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTGGGGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000381768	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000398788	Transcript	1	.	ENSG00000107736	13733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD23_HUMAN	CDH23	HGNC	.	.	UPI0000496839	SNV	CDH23,synonymous_variant,p.%3D,ENST00000398788,;CDH23,synonymous_variant,p.%3D,ENST00000224721,;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	1040	63	86	SUCCESS
ITIH5	80760	.	GRCh37	10	7627891	7627891	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781335246	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	45	90	0	ENST00000256861.6:c.1081T>A	p.Tyr361Asn	p.Y361N	ENST00000256861	NM_030569.6	361	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	.	1081	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTACACTT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000256861	.	8/14	.	.	.	.	.	.	.	.	rs781335246,COSM4015902,COSM4015903,COSM4015904	8/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.662)	.	deleterious(0)	0,1,1,1	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,missense_variant,p.Tyr361Asn,ENST00000397146,;ITIH5,missense_variant,p.Tyr143Asn,ENST00000446830,;ITIH5,missense_variant,p.Tyr147Asn,ENST00000298441,;ITIH5,missense_variant,p.Tyr361Asn,ENST00000256861,;ITIH5,missense_variant,p.Tyr361Asn,ENST00000397145,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,3_prime_UTR_variant,,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;	1160	90	131	SUCCESS
BLID	414899	.	GRCh37	11	121986893	121986893	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	29	0	ENST00000560104.1:c.-263A>T		p.*88*	ENST00000560104	NM_001001786.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31693.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTCTTCT	NONE	.	.	.	.	.	ENSP00000453153	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000560104	Transcript	.	.	ENSG00000259571	33495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BLID_HUMAN	BLID	HGNC	.	.	UPI0000161930	SNV	BLID,5_prime_UTR_variant,,ENST00000560104,;RP11-166D19.1,non_coding_transcript_exon_variant,,ENST00000534297,;	31	29	44	SUCCESS
ZBTB44	29068	.	GRCh37	11	130131553	130131587	+	frameshift_variant	Frame_Shift_Del	DEL	CAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA	CAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA	-	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	CAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA	CAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	120	21	109	0	ENST00000357899.4:c.182_216del	p.Val61GlyfsTer25	p.V61Gfs*25	ENST00000357899		61	gTAGGCCAAGCCGAGGATGAGAACAAGAATGTGTTG/g	0	.	.	.	.	.	-	VGQAEDENKNVL/X	protein_coding	YES	CCDS44776.1	182-216	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGATCCAACACATTCTTGTTCTCATCCTCGGCTTGGCCTACAAGT	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF10,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000433457	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000525842	Transcript	.	.	ENSG00000196323	25001	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBT44_HUMAN	ZBTB44	HGNC	.	.	UPI00001FA6D3	deletion	ZBTB44,frameshift_variant,p.Val58GlyfsTer25,ENST00000527478,;ZBTB44,frameshift_variant,p.Val61GlyfsTer25,ENST00000357899,;ZBTB44,frameshift_variant,p.Val61GlyfsTer25,ENST00000525842,;ZBTB44,frameshift_variant,p.Val61GlyfsTer25,ENST00000530205,;ZBTB44,frameshift_variant,p.Val61GlyfsTer25,ENST00000397753,;ZBTB44,upstream_gene_variant,,ENST00000529982,;ZBTB44,upstream_gene_variant,,ENST00000528448,;ZBTB44,frameshift_variant,p.Val61GlyfsTer25,ENST00000445008,;ZBTB44,non_coding_transcript_exon_variant,,ENST00000529348,;	550-584	109	141	SUCCESS
BBOX1	8424	.	GRCh37	11	27114795	27114795	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	55	133	0	ENST00000263182.3:c.415A>T	p.Lys139Ter	p.K139*	ENST00000263182	NM_003986.2	139	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS7862.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACAAGTGG	BUFFER|p.H136H|c.408C>T|3	.	.	hmmpanther:PTHR10696,hmmpanther:PTHR10696:SF20,Pfam_domain:PF02668,Gene3D:3.60.130.10,TIGRFAM_domain:TIGR02409,Superfamily_domains:SSF51197	.	.	ENSP00000263182	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000263182	Transcript	.	.	ENSG00000129151	964	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BODG_HUMAN	BBOX1	HGNC	Q1KLS6_HUMAN,E9PKC9_HUMAN	.	UPI0000126A4C	SNV	BBOX1,stop_gained,p.Lys139Ter,ENST00000525090,;BBOX1,stop_gained,p.Lys139Ter,ENST00000529202,;BBOX1,stop_gained,p.Lys139Ter,ENST00000263182,;BBOX1,stop_gained,p.Lys139Ter,ENST00000528583,;RP11-1L12.3,intron_variant,,ENST00000526061,;RP11-1L12.3,intron_variant,,ENST00000525302,;RP11-1L12.3,intron_variant,,ENST00000530430,;BBOX1,intron_variant,,ENST00000527505,;	783	133	166	SUCCESS
PRR5L	79899	.	GRCh37	11	36422597	36422597	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	28	0	ENST00000378867.3:c.-75C>T		p.*25*	ENST00000378867	NM_024841.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31463.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCCCTGG	NONE	.	.	.	.	.	ENSP00000368144	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000378867	Transcript	.	.	ENSG00000135362	25878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR5L_HUMAN	PRR5L	HGNC	E9PS02_HUMAN,E9PP62_HUMAN,E9PP25_HUMAN,E9PLJ6_HUMAN,E9PL62_HUMAN,E9PKK6_HUMAN,E9PJV4_HUMAN,E9PIU0_HUMAN	.	UPI0000DBEF36	SNV	PRR5L,5_prime_UTR_variant,,ENST00000526682,;PRR5L,5_prime_UTR_variant,,ENST00000532121,;PRR5L,5_prime_UTR_variant,,ENST00000530639,;PRR5L,5_prime_UTR_variant,,ENST00000530050,;PRR5L,5_prime_UTR_variant,,ENST00000526728,;PRR5L,5_prime_UTR_variant,,ENST00000530252,;PRR5L,5_prime_UTR_variant,,ENST00000524380,;PRR5L,5_prime_UTR_variant,,ENST00000311599,;PRR5L,5_prime_UTR_variant,,ENST00000526679,;PRR5L,5_prime_UTR_variant,,ENST00000527172,;PRR5L,5_prime_UTR_variant,,ENST00000378867,;PRR5L,upstream_gene_variant,,ENST00000527487,;PRR5L,non_coding_transcript_exon_variant,,ENST00000529034,;PRR5L,intron_variant,,ENST00000389693,;PRR5L,downstream_gene_variant,,ENST00000527751,;	281	28	37	SUCCESS
MYBPC3	4607	.	GRCh37	11	47361216	47361216	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	38	77	0	ENST00000545968.1:c.2053A>T	p.Lys685Ter	p.K685*	ENST00000545968	NM_000256.3	685	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS53621.1	2053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTTCTGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF52,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000442795	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000545968	Transcript	.	.	ENSG00000134571	7551	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYPC3_HUMAN	MYBPC3	HGNC	B6D426_HUMAN	.	UPI000006EEAA	SNV	MYBPC3,stop_gained,p.Lys685Ter,ENST00000545968,;MYBPC3,stop_gained,p.Lys684Ter,ENST00000256993,;MYBPC3,stop_gained,p.Lys685Ter,ENST00000399249,;MYBPC3,stop_gained,p.Lys685Ter,ENST00000544791,;	2108	77	78	SUCCESS
GANAB	23193	.	GRCh37	11	62402314	62402314	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1417175965	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	79	0	ENST00000356638.3:c.539A>G	p.His180Arg	p.H180R	ENST00000356638	NM_198334.2	180	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS41656.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATGCTCA	NONE	.	.	hmmpanther:PTHR22762:SF51,hmmpanther:PTHR22762	.	.	ENSP00000340466	.	5/25	.	.	.	.	.	.	.	.	COSM929753	5/25	PASS	ENST00000346178	Transcript	.	.	ENSG00000089597	4138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.835)	.	deleterious(0)	1	GANAB_HUMAN	GANAB	HGNC	.	.	UPI0000052BE8	SNV	GANAB,missense_variant,p.His66Arg,ENST00000525994,;GANAB,missense_variant,p.His180Arg,ENST00000356638,;GANAB,missense_variant,p.His66Arg,ENST00000534779,;GANAB,missense_variant,p.His83Arg,ENST00000540933,;GANAB,missense_variant,p.His180Arg,ENST00000346178,;GANAB,non_coding_transcript_exon_variant,,ENST00000534422,;GANAB,downstream_gene_variant,,ENST00000534419,;GANAB,3_prime_UTR_variant,,ENST00000529737,;GANAB,3_prime_UTR_variant,,ENST00000534613,;GANAB,3_prime_UTR_variant,,ENST00000532402,;GANAB,3_prime_UTR_variant,,ENST00000526210,;GANAB,non_coding_transcript_exon_variant,,ENST00000524437,;GANAB,non_coding_transcript_exon_variant,,ENST00000526392,;GANAB,upstream_gene_variant,,ENST00000526732,;	555	79	116	SUCCESS
NXF1	10482	.	GRCh37	11	62572918	62572918	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	63	0	ENST00000294172.2:c.-90A>T		p.*30*	ENST00000294172	NM_006362.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8037.1	.	MUTECT|MUSE	.	GTCCCTACGCC	NONE	.	.	.	.	.	ENSP00000436679	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000532297	Transcript	.	.	ENSG00000162231	8071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NXF1_HUMAN	NXF1	HGNC	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN	.	UPI00000012B9	SNV	NXF1,5_prime_UTR_variant,,ENST00000532297,;NXF1,5_prime_UTR_variant,,ENST00000530875,;NXF1,5_prime_UTR_variant,,ENST00000294172,;NXF1,5_prime_UTR_variant,,ENST00000531709,;NXF1,upstream_gene_variant,,ENST00000531474,;NXF1,upstream_gene_variant,,ENST00000533671,;STX5,downstream_gene_variant,,ENST00000394690,;NXF1,upstream_gene_variant,,ENST00000439713,;STX5,downstream_gene_variant,,ENST00000541317,;STX5,downstream_gene_variant,,ENST00000294179,;NXF1,upstream_gene_variant,,ENST00000531131,;STX5,downstream_gene_variant,,ENST00000377897,;RP11-727F15.13,downstream_gene_variant,,ENST00000596971,;NXF1,non_coding_transcript_exon_variant,,ENST00000531579,;NXF1,upstream_gene_variant,,ENST00000526163,;NXF1,non_coding_transcript_exon_variant,,ENST00000527064,;NXF1,upstream_gene_variant,,ENST00000525576,;STX5,downstream_gene_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000491231,;	541	63	60	SUCCESS
MAP3K11	4296	.	GRCh37	11	65366954	65366954	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201727045	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	71	141	0	ENST00000309100.3:c.2117C>T	p.Pro706Leu	p.P706L	ENST00000309100	NM_002419.3	706	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS8107.1	2117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGGGGAG	NONE	byCluster|by1000G	.	PIRSF_domain:PIRSF000556	A:0.001	.	ENSP00000309597	A:0	9/10	.	.	.	.	.	.	.	.	rs201727045,COSM1355984	9/10	PASS	ENST00000309100	Transcript	.	A:0.0002	ENSG00000173327	6850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	A:0	tolerated_low_confidence(0.18)	0,1	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,missense_variant,p.Pro122Leu,ENST00000532507,;MAP3K11,missense_variant,p.Pro706Leu,ENST00000309100,;MAP3K11,missense_variant,p.Pro449Leu,ENST00000530153,;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000340313,;KCNK7,upstream_gene_variant,,ENST00000394216,;KCNK7,upstream_gene_variant,,ENST00000394217,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,;	2603	141	172	SUCCESS
PDDC1	0	.	GRCh37	11	770992	770992	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs777574415	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	54	0	ENST00000319863.8:c.656+1G>T		p.X219_splice	ENST00000319863	NM_182612.2	219		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7713.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCGGCT	NONE	.	.	.	.	.	ENSP00000321691	.	.	.	.	.	.	.	.	.	.	rs777574415	.	PASS	ENST00000319863	Transcript	.	.	ENSG00000177225	26616	.	.	HIGH	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDDC1_HUMAN	PDDC1	HGNC	B7ZKW4_HUMAN,B7Z1J9_HUMAN	.	UPI000006FAE8	SNV	PDDC1,splice_donor_variant,,ENST00000524550,;PDDC1,splice_donor_variant,,ENST00000465313,;PDDC1,splice_donor_variant,,ENST00000442059,;PDDC1,splice_donor_variant,,ENST00000319863,;PDDC1,intron_variant,,ENST00000397472,;PDDC1,intron_variant,,ENST00000526325,;PDDC1,intron_variant,,ENST00000528309,;PDDC1,intron_variant,,ENST00000526650,;PDDC1,splice_donor_variant,,ENST00000529966,;PDDC1,downstream_gene_variant,,ENST00000532839,;PDDC1,downstream_gene_variant,,ENST00000529362,;PDDC1,splice_donor_variant,,ENST00000354286,;PDDC1,splice_donor_variant,,ENST00000534603,;PDDC1,splice_donor_variant,,ENST00000530209,;PDDC1,non_coding_transcript_exon_variant,,ENST00000533960,;PDDC1,non_coding_transcript_exon_variant,,ENST00000532320,;PDDC1,downstream_gene_variant,,ENST00000528602,;	.	54	59	SUCCESS
NUP37	79023	.	GRCh37	12	102512230	102512230	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	68	0	ENST00000251074.1:c.67G>A	p.Glu23Lys	p.E23K	ENST00000251074	NM_024057.2	23	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9089.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCTACCA	NONE	.	.	hmmpanther:PTHR22806,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000448054	.	2/10	.	.	.	.	.	.	.	.	COSM1188583	2/10	PASS	ENST00000552283	Transcript	.	.	ENSG00000075188	29929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.242)	.	deleterious(0.02)	1	NUP37_HUMAN	NUP37	HGNC	F8VXF5_HUMAN	.	UPI00000372E7	SNV	NUP37,missense_variant,p.Glu23Lys,ENST00000550459,;NUP37,missense_variant,p.Glu23Lys,ENST00000251074,;NUP37,missense_variant,p.Glu23Lys,ENST00000551744,;NUP37,missense_variant,p.Glu23Lys,ENST00000552283,;PARPBP,upstream_gene_variant,,ENST00000358383,;PARPBP,upstream_gene_variant,,ENST00000537257,;PARPBP,upstream_gene_variant,,ENST00000543784,;PARPBP,upstream_gene_variant,,ENST00000541394,;PARPBP,upstream_gene_variant,,ENST00000378128,;PARPBP,upstream_gene_variant,,ENST00000327680,;PARPBP,upstream_gene_variant,,ENST00000392911,;NUP37,non_coding_transcript_exon_variant,,ENST00000543021,;NUP37,non_coding_transcript_exon_variant,,ENST00000548994,;PARPBP,upstream_gene_variant,,ENST00000541668,;NUP37,non_coding_transcript_exon_variant,,ENST00000551200,;PARPBP,upstream_gene_variant,,ENST00000392909,;	207	68	100	SUCCESS
KLRC2	3822	.	GRCh37	12	10588437	10588437	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752694717	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	81	0	ENST00000381902.2:c.149T>A	p.Leu50Gln	p.L50Q	ENST00000381902	NM_002260.3	50	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31745.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCAGGGAA	NONE	.	.	hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF162	.	.	ENSP00000371327	.	1/6	.	.	.	.	.	.	.	.	rs752694717	1/6	PASS	ENST00000381902	Transcript	.	.	ENSG00000205809	6375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	NKG2C_HUMAN	KLRC2	HGNC	.	.	UPI0000140823	SNV	KLRC2,missense_variant,p.Leu50Gln,ENST00000381902,;NKG2-E,missense_variant,p.Leu50Gln,ENST00000539033,;KLRC2,missense_variant,p.Leu50Gln,ENST00000381901,;KLRC2,intron_variant,,ENST00000536833,;KLRC2,upstream_gene_variant,,ENST00000537017,;KLRC2,missense_variant,p.Leu23Gln,ENST00000535069,;	156	81	101	SUCCESS
GYS2	2998	.	GRCh37	12	21713357	21713357	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	61	0	ENST00000261195.2:c.1132G>A	p.Glu378Lys	p.E378K	ENST00000261195	NM_021957.3	378	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8690.1	1132	MUTECT|MUSE|VARSCANS	.	GGTTTCCACGT	NONE	.	.	Pfam_domain:PF05693,hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176	.	.	ENSP00000261195	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000261195	Transcript	.	.	ENSG00000111713	4707	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	GYS2_HUMAN	GYS2	HGNC	.	.	UPI000013D13D	SNV	GYS2,missense_variant,p.Glu378Lys,ENST00000261195,;	1387	61	74	SUCCESS
SLC6A13	6540	.	GRCh37	12	351921	351936	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	CTGCGGGGAAACTGCA	CTGCGGGGAAACTGCA	-	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	CTGCGGGGAAACTGCA	CTGCGGGGAAACTGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	47	0	ENST00000343164.4:c.338-16_338-1del		p.X113_splice	ENST00000343164	NM_016615.4	113		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8502.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATGCCTGCGGGGAAACTGCAGAATT	NONE	.	.	.	.	.	ENSP00000339260	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343164	Transcript	.	.	ENSG00000010379	11046	.	.	HIGH	3/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S6A13_HUMAN	SLC6A13	HGNC	.	.	UPI0000046060	deletion	SLC6A13,splice_acceptor_variant,,ENST00000343164,;SLC6A13,intron_variant,,ENST00000546319,;SLC6A13,intron_variant,,ENST00000445055,;SLC6A13,splice_acceptor_variant,,ENST00000539260,;SLC6A13,splice_acceptor_variant,,ENST00000536842,;SLC6A13,splice_acceptor_variant,,ENST00000542272,;SLC6A13,upstream_gene_variant,,ENST00000534887,;	.	47	65	SUCCESS
AKAP3	10566	.	GRCh37	12	4735824	4735824	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	61	127	1	ENST00000228850.1:c.2244C>A	p.Pro748=	p.P748=	ENST00000228850		748	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8531.1	2244	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGGGCTG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000440994	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000545990	Transcript	.	.	ENSG00000111254	373	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKAP3_HUMAN	AKAP3	HGNC	F5H7P4_HUMAN,F5H2S4_HUMAN	.	UPI000013C8DF	SNV	AKAP3,synonymous_variant,p.%3D,ENST00000545990,;AKAP3,synonymous_variant,p.%3D,ENST00000228850,;AKAP3,downstream_gene_variant,,ENST00000540967,;AKAP3,downstream_gene_variant,,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;	2769	128	166	SUCCESS
HOXC11	3227	.	GRCh37	12	54367150	54367150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	54	0	ENST00000546378.1:c.125C>A	p.Pro42His	p.P42H	ENST00000546378		42	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS8867.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCCCGAGT	NONE	.	.	hmmpanther:PTHR24326:SF172,hmmpanther:PTHR24326,Pfam_domain:PF12045	.	.	ENSP00000446680	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000546378	Transcript	.	.	ENSG00000123388	5123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	HXC11_HUMAN	HOXC11	HGNC	.	.	UPI000012CF7D	SNV	HOXC11,missense_variant,p.Pro42His,ENST00000546378,;HOXC11,missense_variant,p.Pro42His,ENST00000243082,;HOTAIR,intron_variant,,ENST00000424518,;HOTAIR,intron_variant,,ENST00000455246,;HOTAIR,upstream_gene_variant,,ENST00000439545,;	241	54	82	SUCCESS
SPSB2	84727	.	GRCh37	12	6982127	6982127	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	32	0	ENST00000523102.1:c.-62T>G		p.*21*	ENST00000523102	NM_001146316.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8567.1	.	RADIA|MUTECT|MUSE	.	CTGAAAGTTGA	NONE	.	.	.	.	.	ENSP00000428338	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000524270	Transcript	.	.	ENSG00000111671	29522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPSB2_HUMAN	SPSB2	HGNC	E5RIC2_HUMAN	.	UPI000003316E	SNV	SPSB2,5_prime_UTR_variant,,ENST00000432205,;SPSB2,5_prime_UTR_variant,,ENST00000519357,;SPSB2,5_prime_UTR_variant,,ENST00000523102,;SPSB2,5_prime_UTR_variant,,ENST00000524270,;TPI1,downstream_gene_variant,,ENST00000396705,;TPI1,downstream_gene_variant,,ENST00000488464,;TPI1,downstream_gene_variant,,ENST00000495834,;LRRC23,upstream_gene_variant,,ENST00000433346,;TPI1,downstream_gene_variant,,ENST00000493987,;TPI1,downstream_gene_variant,,ENST00000229270,;TPI1,downstream_gene_variant,,ENST00000535434,;TPI1,downstream_gene_variant,,ENST00000462761,;LRRC23,upstream_gene_variant,,ENST00000449039,;RPL13P5,upstream_gene_variant,,ENST00000421824,;SPSB2,downstream_gene_variant,,ENST00000437851,;RPL13P5,upstream_gene_variant,,ENST00000412023,;RPL13P5,upstream_gene_variant,,ENST00000274820,;RPL13P5,upstream_gene_variant,,ENST00000451612,;TPI1,downstream_gene_variant,,ENST00000482209,;TPI1,downstream_gene_variant,,ENST00000474253,;	126	32	35	SUCCESS
SLC2A3	6515	.	GRCh37	12	8085600	8085600	+	synonymous_variant	Silent	SNP	G	G	A	rs749874527	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	60	106	0	ENST00000075120.7:c.252C>T	p.Phe84=	p.F84=	ENST00000075120	NM_006931.2	84	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS8586.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACGAAGAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000075120	.	3/10	.	.	.	.	.	.	.	.	rs749874527	3/10	PASS	ENST00000075120	Transcript	.	.	ENSG00000059804	11007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR3_HUMAN	SLC2A3	HGNC	.	.	UPI0000001C7D	SNV	SLC2A3,synonymous_variant,p.%3D,ENST00000544291,;SLC2A3,synonymous_variant,p.%3D,ENST00000075120,;SLC2A3,3_prime_UTR_variant,,ENST00000544936,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000476634,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,upstream_gene_variant,,ENST00000479059,;SLC2A3,upstream_gene_variant,,ENST00000490763,;SLC2A3,downstream_gene_variant,,ENST00000541671,;	493	106	160	SUCCESS
PTPRQ	374462	.	GRCh37	12	80928788	80928788	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	61	144	0	ENST00000266688.5:c.2945A>G	p.Tyr982Cys	p.Y982C	ENST00000266688		982	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	2945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTACAGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	24/50	.	.	.	.	.	.	.	.	.	24/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Tyr982Cys,ENST00000266688,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000547485,;	2945	144	212	SUCCESS
A2ML1	144568	.	GRCh37	12	8998818	8998818	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	41	94	0	ENST00000299698.7:c.1683+1del		p.Q561fs	ENST00000299698	NM_144670.4	561	caG/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS8596.2	1683	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATCAGGTAAA	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412,Pfam_domain:PF07703	.	.	ENSP00000299698	.	14/36	.	.	.	.	.	.	.	.	.	14/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	deletion	A2ML1,frameshift_variant,,ENST00000299698,;A2ML1,frameshift_variant,,ENST00000545692,;A2ML1,frameshift_variant,,ENST00000541459,;A2ML1,frameshift_variant,,ENST00000539547,;A2ML1,downstream_gene_variant,,ENST00000536789,;A2ML1,splice_region_variant,,ENST00000540049,;	1863	94	170	SUCCESS
C12orf55	0	.	GRCh37	12	97045531	97045531	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	40	121	0	ENST00000524981.4:c.5038T>G	p.Tyr1680Asp	p.Y1680D	ENST00000524981		1680	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	.	5038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTATTTG	BUFFER|p.V101V|c.303T>C|3	.	.	.	.	.	ENSP00000431759	.	36/68	.	.	.	.	.	.	.	.	.	36/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Tyr1680Asp,ENST00000524981,;C12orf55,downstream_gene_variant,,ENST00000550977,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	5061	121	131	SUCCESS
EFNB2	1948	.	GRCh37	13	107165124	107165124	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	65	0	ENST00000245323.4:c.159G>A	p.Gln53=	p.Q53=	ENST00000245323	NM_004093.3	53	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9507.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATCTGTGG	NONE	.	.	Prints_domain:PR01347,Superfamily_domains:SSF49503,Pfam_domain:PF00812,Gene3D:2.60.40.420,hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304,PROSITE_profiles:PS51551	.	.	ENSP00000245323	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,synonymous_variant,p.%3D,ENST00000245323,;	309	66	97	SUCCESS
GJB6	10804	.	GRCh37	13	20797574	20797574	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	30	66	0	ENST00000241124.6:c.46C>T	p.His16Tyr	p.H16Y	ENST00000241124	NM_006783.4	16	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS9291.1	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGTTTGT	NONE	.	.	hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF23,Gene3D:2zw3A00,Pfam_domain:PF00029	.	.	ENSP00000348521	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000356192	Transcript	.	.	ENSG00000121742	4288	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(1)	.	CXB6_HUMAN	GJB6	HGNC	.	.	UPI0000074737	SNV	GJB6,missense_variant,p.His16Tyr,ENST00000241124,;GJB6,missense_variant,p.His16Tyr,ENST00000356192,;GJB6,missense_variant,p.His16Tyr,ENST00000400065,;GJB6,missense_variant,p.His16Tyr,ENST00000400066,;	667	66	108	SUCCESS
SERPINE3	647174	.	GRCh37	13	51936118	51936118	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	9	134	0	ENST00000521255.1:c.1260T>C	p.Asn420=	p.N420=	ENST00000521255	NM_001101320.1	420	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS53870.1	1260	MUTECT|MUSE	.	AAAAATAAGCA	NONE	.	.	.	.	.	ENSP00000428316	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000521255	Transcript	.	.	ENSG00000253309	24774	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SERP3_HUMAN	SERPINE3	HGNC	E5RG55_HUMAN	.	UPI00001B2164	SNV	SERPINE3,synonymous_variant,p.%3D,ENST00000521255,;SERPINE3,intron_variant,,ENST00000400389,;SERPINE3,intron_variant,,ENST00000524365,;INTS6,downstream_gene_variant,,ENST00000425000,;INTS6,downstream_gene_variant,,ENST00000398119,;INTS6,downstream_gene_variant,,ENST00000497989,;INTS6,downstream_gene_variant,,ENST00000490542,;INTS6,downstream_gene_variant,,ENST00000311234,;RP11-24B19.4,non_coding_transcript_exon_variant,,ENST00000602881,;RP11-24B19.3,downstream_gene_variant,,ENST00000602636,;INTS6,intron_variant,,ENST00000476666,;INTS6,downstream_gene_variant,,ENST00000469430,;INTS6,downstream_gene_variant,,ENST00000483441,;	1320	134	175	SUCCESS
ACIN1	22985	.	GRCh37	14	23548222	23548222	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs920497782	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	59	0	ENST00000262710.1:c.1988A>G	p.Asp663Gly	p.D663G	ENST00000262710	NM_001164814.1	663	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9587.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTCCCTG	NONE	.	.	hmmpanther:PTHR14127	.	.	ENSP00000262710	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000262710	Transcript	.	.	ENSG00000100813	17066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	.	.	ACINU_HUMAN	ACIN1	HGNC	S4R3H4_HUMAN	.	UPI000013D308	SNV	ACIN1,missense_variant,p.Asp605Gly,ENST00000605057,;ACIN1,missense_variant,p.Asp663Gly,ENST00000262710,;ACIN1,missense_variant,p.Asp663Gly,ENST00000555053,;ACIN1,missense_variant,p.Asp623Gly,ENST00000457657,;ACIN1,upstream_gene_variant,,ENST00000555352,;ACIN1,non_coding_transcript_exon_variant,,ENST00000554708,;	2316	59	89	SUCCESS
PTGR2	145482	.	GRCh37	14	74343770	74343770	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	31	88	0	ENST00000267568.4:c.418T>A	p.Ser140Thr	p.S140T	ENST00000267568	NM_152444.2	140	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS9820.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTTCCTTG	NONE	.	.	hmmpanther:PTHR11695:SF375,hmmpanther:PTHR11695,Gene3D:3.90.180.10,Superfamily_domains:SSF51735,Superfamily_domains:SSF50129	.	.	ENSP00000452280	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000555661	Transcript	.	.	ENSG00000140043	20149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	deleterious(0)	.	PTGR2_HUMAN	PTGR2	HGNC	G3V2R9_HUMAN	.	UPI000004EC24	SNV	PTGR2,missense_variant,p.Ser140Thr,ENST00000555661,;PTGR2,missense_variant,p.Ser6Thr,ENST00000553813,;PTGR2,missense_variant,p.Ser140Thr,ENST00000267568,;PTGR2,missense_variant,p.Ser140Thr,ENST00000555228,;PTGR2,downstream_gene_variant,,ENST00000555976,;RP5-1021I20.4,missense_variant,p.Ser140Thr,ENST00000556551,;PTGR2,non_coding_transcript_exon_variant,,ENST00000556219,;	563	88	123	SUCCESS
TTLL5	23093	.	GRCh37	14	76135787	76135787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1049723430	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	69	0	ENST00000298832.9:c.103G>A	p.Gly35Ser	p.G35S	ENST00000298832	NM_015072.4	35	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32124.1	103	MUTECT|MUSE	.	CTGGAGGCTGC	NONE	.	.	hmmpanther:PTHR12241:SF16,hmmpanther:PTHR12241	.	.	ENSP00000298832	.	3/32	.	.	.	.	.	.	.	.	.	3/32	PASS	ENST00000298832	Transcript	.	.	ENSG00000119685	19963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.253)	.	tolerated(0.37)	.	TTLL5_HUMAN	TTLL5	HGNC	Q2TAY9_HUMAN,O95419_HUMAN	.	UPI00003FF22B	SNV	TTLL5,missense_variant,p.Gly35Ser,ENST00000557636,;TTLL5,missense_variant,p.Gly35Ser,ENST00000286650,;TTLL5,missense_variant,p.Gly35Ser,ENST00000298832,;TTLL5,missense_variant,p.Gly35Ser,ENST00000556977,;TTLL5,non_coding_transcript_exon_variant,,ENST00000556685,;TTLL5,non_coding_transcript_exon_variant,,ENST00000555290,;TTLL5,non_coding_transcript_exon_variant,,ENST00000556173,;	308	69	113	SUCCESS
TTC7B	145567	.	GRCh37	14	91044612	91044612	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	45	87	0	ENST00000328459.6:c.2148A>T	p.Thr716=	p.T716=	ENST00000328459	NM_001010854.1	716	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS32140.1	2148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGTGGC	NONE	.	.	SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR23083:SF365,hmmpanther:PTHR23083,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,Superfamily_domains:SSF48452	.	.	ENSP00000336127	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000328459	Transcript	.	.	ENSG00000165914	19858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC7B_HUMAN	TTC7B	HGNC	G3V3E4_HUMAN,B3KX34_HUMAN	.	UPI00001FD9F0	SNV	TTC7B,synonymous_variant,p.%3D,ENST00000553972,;TTC7B,synonymous_variant,p.%3D,ENST00000328459,;TTC7B,synonymous_variant,p.%3D,ENST00000357056,;TTC7B,synonymous_variant,p.%3D,ENST00000557292,;TTC7B,intron_variant,,ENST00000555894,;TTC7B,non_coding_transcript_exon_variant,,ENST00000554654,;TTC7B,non_coding_transcript_exon_variant,,ENST00000556960,;TTC7B,3_prime_UTR_variant,,ENST00000555005,;TTC7B,non_coding_transcript_exon_variant,,ENST00000557059,;	2270	87	131	SUCCESS
INO80	54617	.	GRCh37	15	41313274	41313274	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs775664420	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	51	0	ENST00000361937.3:c.3098A>T	p.Tyr1033Phe	p.Y1033F	ENST00000361937		1033	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10071.1	3098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCATATTCT	NONE	.	.	hmmpanther:PTHR10799:SF213,hmmpanther:PTHR10799	.	.	ENSP00000355205	.	26/36	.	.	.	.	.	.	.	.	rs775664420	26/36	PASS	ENST00000361937	Transcript	.	.	ENSG00000128908	26956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.08)	.	INO80_HUMAN	INO80	HGNC	Q9NUK2_HUMAN	.	UPI00001B6AFC	SNV	INO80,missense_variant,p.Tyr1033Phe,ENST00000361937,;INO80,missense_variant,p.Tyr1033Phe,ENST00000401393,;RP11-540O11.4,intron_variant,,ENST00000558967,;RP11-540O11.4,upstream_gene_variant,,ENST00000560178,;INO80,missense_variant,p.Tyr1033Phe,ENST00000558357,;INO80,3_prime_UTR_variant,,ENST00000557849,;	3523	51	56	SUCCESS
RPAP1	26015	.	GRCh37	15	41812892	41812892	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	60	0	ENST00000304330.4:c.3492G>A	p.Leu1164=	p.L1164=	ENST00000304330	NM_015540.2	1164	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10079.1	3492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCAGGAA	NONE	.	.	hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483	.	.	ENSP00000306123	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000304330	Transcript	.	.	ENSG00000103932	24567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPAP1_HUMAN	RPAP1	HGNC	H3BPY8_HUMAN,H3BPM3_HUMAN	.	UPI000013D465	SNV	RPAP1,synonymous_variant,p.%3D,ENST00000304330,;RPAP1,intron_variant,,ENST00000561603,;RPAP1,downstream_gene_variant,,ENST00000565035,;RPAP1,synonymous_variant,p.%3D,ENST00000562303,;RPAP1,non_coding_transcript_exon_variant,,ENST00000565167,;RPAP1,downstream_gene_variant,,ENST00000564934,;RPAP1,downstream_gene_variant,,ENST00000561631,;	3609	60	87	SUCCESS
VPS39	23339	.	GRCh37	15	42458405	42458405	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	41	108	0	ENST00000348544.4:c.1665C>G	p.Phe555Leu	p.F555L	ENST00000348544		555	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS10083.1	1632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAGAAAAT	NONE	.	.	hmmpanther:PTHR12894:SF10,hmmpanther:PTHR12894,Pfam_domain:PF10366	.	.	ENSP00000326534	.	16/25	.	.	.	.	.	.	.	.	COSM961679,COSM3886979,COSM3886980	16/25	PASS	ENST00000318006	Transcript	.	.	ENSG00000166887	20593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.014)	.	tolerated(0.77)	1,1,1	VPS39_HUMAN	VPS39	HGNC	.	.	UPI0000169BB1	SNV	VPS39,missense_variant,p.Phe555Leu,ENST00000348544,;VPS39,missense_variant,p.Phe544Leu,ENST00000318006,;VPS39,non_coding_transcript_exon_variant,,ENST00000563692,;VPS39,non_coding_transcript_exon_variant,,ENST00000562258,;VPS39,downstream_gene_variant,,ENST00000568029,;VPS39,upstream_gene_variant,,ENST00000564994,;VPS39,upstream_gene_variant,,ENST00000561797,;VPS39,upstream_gene_variant,,ENST00000561818,;VPS39,upstream_gene_variant,,ENST00000562662,;VPS39,upstream_gene_variant,,ENST00000568755,;	1795	108	122	SUCCESS
SEMA6D	80031	.	GRCh37	15	48055213	48055213	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	53	0	ENST00000316364.5:c.659A>T	p.Glu220Val	p.E220V	ENST00000316364	NM_153618.1	220	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32225.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGAGCCAC	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	.	.	ENSP00000324857	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.79)	.	deleterious(0.01)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Glu220Val,ENST00000389432,;SEMA6D,missense_variant,p.Glu220Val,ENST00000358066,;SEMA6D,missense_variant,p.Glu220Val,ENST00000389428,;SEMA6D,missense_variant,p.Glu220Val,ENST00000389425,;SEMA6D,missense_variant,p.Glu220Val,ENST00000355997,;SEMA6D,missense_variant,p.Glu220Val,ENST00000389433,;SEMA6D,missense_variant,p.Glu220Val,ENST00000558014,;SEMA6D,missense_variant,p.Glu220Val,ENST00000537942,;SEMA6D,missense_variant,p.Glu220Val,ENST00000354744,;SEMA6D,missense_variant,p.Glu220Val,ENST00000536845,;SEMA6D,missense_variant,p.Glu220Val,ENST00000558816,;SEMA6D,missense_variant,p.Glu220Val,ENST00000316364,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,downstream_gene_variant,,ENST00000561106,;SEMA6D,upstream_gene_variant,,ENST00000558431,;	1098	53	44	SUCCESS
PML	5371	.	GRCh37	15	74327545	74327545	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	33	1	ENST00000268058.3:c.1710+674G>C		p.*570*	ENST00000268058	NM_033238.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10255.1	.	SOMATICSNIPER|VARSCANS	.	CCACAGTCCTC	NONE	.	.	.	.	.	ENSP00000268058	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268058	Transcript	1	.	ENSG00000140464	9113	.	.	MODIFIER	7/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PML_HUMAN	PML	HGNC	Q9UE85_HUMAN,Q05835_HUMAN	.	UPI000013D78F	SNV	PML,missense_variant,p.Val595Leu,ENST00000569477,;PML,missense_variant,p.Gln533His,ENST00000354026,;PML,missense_variant,p.Gln581His,ENST00000268059,;PML,3_prime_UTR_variant,,ENST00000563500,;PML,3_prime_UTR_variant,,ENST00000435786,;PML,3_prime_UTR_variant,,ENST00000436891,;PML,3_prime_UTR_variant,,ENST00000562086,;PML,3_prime_UTR_variant,,ENST00000566068,;PML,3_prime_UTR_variant,,ENST00000567606,;PML,intron_variant,,ENST00000395135,;PML,intron_variant,,ENST00000565239,;PML,intron_variant,,ENST00000565898,;PML,intron_variant,,ENST00000359928,;PML,intron_variant,,ENST00000564428,;PML,intron_variant,,ENST00000569965,;PML,intron_variant,,ENST00000268058,;PML,intron_variant,,ENST00000395132,;PML,downstream_gene_variant,,ENST00000567543,;PML,downstream_gene_variant,,ENST00000569161,;PML,downstream_gene_variant,,ENST00000570213,;	.	34	60	SUCCESS
KIAA1199	0	.	GRCh37	15	81225646	81225646	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	37	110	0	ENST00000220244.3:c.2857del	p.Asp953IlefsTer64	p.D953Ifs*64	ENST00000220244	NM_018689.1	952	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS10315.1	2854	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGGATGGGGAT	NONE	.	.	Superfamily_domains:SSF51126,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	deletion	KIAA1199,frameshift_variant,p.Asp953IlefsTer64,ENST00000356249,;KIAA1199,frameshift_variant,p.Asp953IlefsTer64,ENST00000220244,;KIAA1199,frameshift_variant,p.Asp953IlefsTer64,ENST00000394685,;KIAA1199,upstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;KIAA1199,upstream_gene_variant,,ENST00000495041,;	3273	110	187	SUCCESS
SLCO3A1	28232	.	GRCh37	15	92647605	92647605	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	47	0	ENST00000318445.6:c.842T>A	p.Leu281Ter	p.L281*	ENST00000318445	NM_013272.3	281	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS10371.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTGATGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000320634	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000318445	Transcript	.	.	ENSG00000176463	10952	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO3A1_HUMAN	SLCO3A1	HGNC	.	.	UPI00001AF1F7	SNV	SLCO3A1,stop_gained,p.Leu281Ter,ENST00000318445,;SLCO3A1,stop_gained,p.Leu281Ter,ENST00000424469,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000556649,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555549,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	1056	47	59	SUCCESS
RAB26	25837	.	GRCh37	16	2203207	2203207	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1216911050	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	47	118	0	ENST00000210187.6:c.652T>C	p.Phe218Leu	p.F218L	ENST00000210187	NM_014353.4	218	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS10460.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTTCACA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF441,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000210187	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000210187	Transcript	.	.	ENSG00000167964	14259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	RAB26_HUMAN	RAB26	HGNC	B2RAA6_HUMAN	.	UPI00003584E3	SNV	RAB26,missense_variant,p.Phe23Leu,ENST00000566724,;RAB26,missense_variant,p.Phe152Leu,ENST00000541451,;RAB26,missense_variant,p.Phe218Leu,ENST00000210187,;TRAF7,upstream_gene_variant,,ENST00000326181,;SNORD60,downstream_gene_variant,,ENST00000383903,;RP11-304L19.5,downstream_gene_variant,,ENST00000563192,;RAB26,non_coding_transcript_exon_variant,,ENST00000567145,;RAB26,non_coding_transcript_exon_variant,,ENST00000561600,;RAB26,non_coding_transcript_exon_variant,,ENST00000564426,;RAB26,non_coding_transcript_exon_variant,,ENST00000562735,;TRAF7,upstream_gene_variant,,ENST00000569686,;TRAF7,upstream_gene_variant,,ENST00000564067,;TRAF7,upstream_gene_variant,,ENST00000567653,;TRAF7,upstream_gene_variant,,ENST00000565383,;RAB26,downstream_gene_variant,,ENST00000565592,;	812	118	132	SUCCESS
AXIN1	8312	.	GRCh37	16	347192	347192	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	12	0	ENST00000262320.3:c.1819A>T	p.Lys607Ter	p.K607*	ENST00000262320	NM_003502.3	607	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS10405.1	1819	RADIA|MUTECT|MUSE	.	CTTCTTGGCAT	NONE	.	.	.	.	.	ENSP00000262320	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Lys607Ter,ENST00000262320,;AXIN1,stop_gained,p.Lys607Ter,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	2191	12	12	SUCCESS
USP7	7874	.	GRCh37	16	8989502	8989502	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	24	65	0	ENST00000344836.4:c.2916A>G	p.Ile972Met	p.I972M	ENST00000344836	NM_003470.2	972	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS32385.1	2916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTATTCG	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF89,Pfam_domain:PF14533	.	.	ENSP00000343535	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,missense_variant,p.Ile873Met,ENST00000563085,;USP7,missense_variant,p.Ile956Met,ENST00000381886,;USP7,missense_variant,p.Ile873Met,ENST00000535863,;USP7,missense_variant,p.Ile972Met,ENST00000344836,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,non_coding_transcript_exon_variant,,ENST00000565883,;USP7,non_coding_transcript_exon_variant,,ENST00000567113,;USP7,downstream_gene_variant,,ENST00000566131,;USP7,downstream_gene_variant,,ENST00000563043,;USP7,downstream_gene_variant,,ENST00000562615,;USP7,downstream_gene_variant,,ENST00000562051,;USP7,downstream_gene_variant,,ENST00000567692,;USP7,downstream_gene_variant,,ENST00000569448,;	3115	65	89	SUCCESS
MYH13	8735	.	GRCh37	17	10216060	10216060	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	51	0	ENST00000252172.4:c.4196A>T	p.Gln1399Leu	p.Q1399L	ENST00000252172	NM_003802.2	1399	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45613.1	4196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTGGGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Pfam_domain:PF01576	.	.	ENSP00000404570	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.31)	.	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,missense_variant,p.Gln1399Leu,ENST00000418404,;MYH13,missense_variant,p.Gln1399Leu,ENST00000252172,;RP11-401O9.4,intron_variant,,ENST00000609088,;	4360	51	92	SUCCESS
MYH1	4619	.	GRCh37	17	10405132	10405132	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	66	151	0	ENST00000226207.5:c.3208A>T	p.Thr1070Ser	p.T1070S	ENST00000226207	NM_005963.3	1070	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS11155.1	3208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTGGATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.03)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Thr1070Ser,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3303	151	182	SUCCESS
MYO1C	4641	.	GRCh37	17	1384146	1384146	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs760127296	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	45	0	ENST00000359786.5:c.661C>G	p.Leu221Val	p.L221V	ENST00000359786	NM_001080779.1	221	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS42226.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGGTAAC	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF255,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000352834	.	6/32	.	.	.	.	.	.	.	.	rs760127296	6/32	PASS	ENST00000359786	Transcript	.	.	ENSG00000197879	7597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYO1C_HUMAN	MYO1C	HGNC	I3L4D4_HUMAN,I3L3Y6_HUMAN,I3L3F5_HUMAN,I3L204_HUMAN,I3L168_HUMAN	.	UPI0000200579	SNV	MYO1C,missense_variant,p.Leu197Val,ENST00000545534,;MYO1C,missense_variant,p.Leu202Val,ENST00000438665,;MYO1C,missense_variant,p.Leu186Val,ENST00000361007,;MYO1C,missense_variant,p.Leu186Val,ENST00000570984,;MYO1C,missense_variant,p.Leu186Val,ENST00000575158,;MYO1C,missense_variant,p.Leu221Val,ENST00000359786,;MYO1C,downstream_gene_variant,,ENST00000575335,;MYO1C,downstream_gene_variant,,ENST00000574790,;MYO1C,downstream_gene_variant,,ENST00000570490,;MYO1C,downstream_gene_variant,,ENST00000571715,;MYO1C,downstream_gene_variant,,ENST00000573853,;MYO1C,non_coding_transcript_exon_variant,,ENST00000571851,;MYO1C,non_coding_transcript_exon_variant,,ENST00000573198,;MYO1C,non_coding_transcript_exon_variant,,ENST00000576822,;MYO1C,upstream_gene_variant,,ENST00000573961,;	986	45	64	SUCCESS
MYO18A	399687	.	GRCh37	17	27448104	27448104	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	51	0	ENST00000527372.1:c.1497T>C	p.Ser499=	p.S499=	ENST00000527372	NM_078471.3	499	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS45642.1	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTACTGCC	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Gene3D:3.40.50.300,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,PROSITE_profiles:PS51456,Low_complexity_(Seg):seg	.	.	ENSP00000437073	.	6/42	.	.	.	.	.	.	.	.	.	6/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,synonymous_variant,p.%3D,ENST00000527372,;MYO18A,synonymous_variant,p.%3D,ENST00000533112,;MYO18A,synonymous_variant,p.%3D,ENST00000354329,;MYO18A,synonymous_variant,p.%3D,ENST00000531253,;MYO18A,downstream_gene_variant,,ENST00000528564,;MYO18A,non_coding_transcript_exon_variant,,ENST00000590242,;MYO18A,downstream_gene_variant,,ENST00000531267,;MYO18A,downstream_gene_variant,,ENST00000533420,;MYO18A,downstream_gene_variant,,ENST00000585573,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,downstream_gene_variant,,ENST00000528322,;MYO18A,upstream_gene_variant,,ENST00000588791,;	1678	51	59	SUCCESS
ASIC2	40	.	GRCh37	17	31618817	31618817	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	35	0	ENST00000359872.6:c.556-179732A>G		p.*186*	ENST00000359872	NM_001094.4	106		0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS11276.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGTTCGAG	NONE	.	.	hmmpanther:PTHR11690:SF128,hmmpanther:PTHR11690,Pfam_domain:PF00858	.	.	ENSP00000225823	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000225823	Transcript	.	.	ENSG00000108684	99	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.1)	.	ASIC2_HUMAN	ASIC2	HGNC	B3KXQ3_HUMAN	.	UPI000013C881	SNV	ASIC2,missense_variant,p.Asn106Ser,ENST00000225823,;ASIC2,intron_variant,,ENST00000359872,;ASIC2,upstream_gene_variant,,ENST00000448983,;ASIC2,upstream_gene_variant,,ENST00000579816,;	1190	35	70	SUCCESS
CCL15	6359	.	GRCh37	17	34328687	34328687	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	32	0	ENST00000354059.4:c.-156T>C		p.*52*	ENST00000354059	NM_032965.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11304.1	.	SOMATICSNIPER|VARSCANS	.	GCTATATAATA	NONE	.	.	.	.	.	ENSP00000293276	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000354059	Transcript	.	.	ENSG00000267596	10613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCL15_HUMAN	CCL15	HGNC	.	.	UPI00001362D7	SNV	CCL15,5_prime_UTR_variant,,ENST00000354059,;CCL14,5_prime_UTR_variant,,ENST00000536149,;CCL15,upstream_gene_variant,,ENST00000394506,;RP11-104J23.1,intron_variant,,ENST00000590192,;CCL15-CCL14,upstream_gene_variant,,ENST00000481427,;CCL15-CCL14,upstream_gene_variant,,ENST00000495214,;	398	32	36	SUCCESS
KRTAP9-3	83900	.	GRCh37	17	39388751	39388751	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	45	157	0	ENST00000411528.2:c.-3A>T		p.*1*	ENST00000411528	NM_031962.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11385.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACACCATG	NONE	.	.	.	.	.	ENSP00000392189	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000411528	Transcript	.	.	ENSG00000204873	16927	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA93_HUMAN	KRTAP9-3	HGNC	.	.	UPI0000071C07	SNV	KRTAP9-3,5_prime_UTR_variant,,ENST00000411528,;KRTAP9-2,downstream_gene_variant,,ENST00000377721,;	37	157	174	SUCCESS
KRT32	3882	.	GRCh37	17	39623382	39623382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	77	0	ENST00000225899.3:c.196T>A	p.Tyr66Asn	p.Y66N	ENST00000225899	NM_002278.3	66	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS11393.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATAGGTTT	NONE	.	.	hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Superfamily_domains:SSF57184	.	.	ENSP00000225899	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000225899	Transcript	.	.	ENSG00000108759	6449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.24)	.	K1H2_HUMAN	KRT32	HGNC	.	.	UPI000013C883	SNV	KRT32,missense_variant,p.Tyr66Asn,ENST00000225899,;RNU2-32P,upstream_gene_variant,,ENST00000411193,;	300	77	116	SUCCESS
KRT15	3866	.	GRCh37	17	39670928	39670928	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	31	85	0	ENST00000254043.3:c.1248-2A>T		p.X416_splice	ENST00000254043	NM_002275.3	416		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11398.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTGAAAG	NONE	.	.	.	.	.	ENSP00000254043	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254043	Transcript	.	.	ENSG00000171346	6421	.	.	HIGH	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C15_HUMAN	KRT15	HGNC	.	.	UPI000013CE0E	SNV	KRT15,splice_acceptor_variant,,ENST00000393976,;KRT15,splice_acceptor_variant,,ENST00000254043,;KRT15,splice_acceptor_variant,,ENST00000393974,;KRT15,3_prime_UTR_variant,,ENST00000393981,;KRT15,downstream_gene_variant,,ENST00000458290,;KRT15,non_coding_transcript_exon_variant,,ENST00000586794,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,downstream_gene_variant,,ENST00000470004,;KRT15,downstream_gene_variant,,ENST00000497016,;KRT15,downstream_gene_variant,,ENST00000463447,;	.	85	90	SUCCESS
SPATA20	64847	.	GRCh37	17	48627450	48627450	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	40	0	ENST00000356488.4:c.919G>A	p.Gly307Arg	p.G307R	ENST00000356488	NM_001258372.1	307	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS11571.1	967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACGGGGGC	NONE	.	.	Superfamily_domains:SSF48208,PIRSF_domain:PIRSF006402,Pfam_domain:PF07221,Gene3D:1.50.10.10,hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145	.	.	ENSP00000006658	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,missense_variant,p.Gly307Arg,ENST00000356488,;SPATA20,missense_variant,p.Gly323Arg,ENST00000006658,;SPATA20,missense_variant,p.Gly263Arg,ENST00000393244,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,missense_variant,p.Gly190Arg,ENST00000511347,;SPATA20,3_prime_UTR_variant,,ENST00000505559,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000505656,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512181,;SPATA20,downstream_gene_variant,,ENST00000512416,;SPATA20,downstream_gene_variant,,ENST00000510917,;SPATA20,downstream_gene_variant,,ENST00000508598,;SPATA20,downstream_gene_variant,,ENST00000502911,;SPATA20,upstream_gene_variant,,ENST00000504271,;SPATA20,upstream_gene_variant,,ENST00000513618,;SPATA20,upstream_gene_variant,,ENST00000504265,;SPATA20,upstream_gene_variant,,ENST00000508528,;SPATA20,upstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000511605,;SPATA20,downstream_gene_variant,,ENST00000505456,;SPATA20,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000505085,;SPATA20,downstream_gene_variant,,ENST00000505336,;SPATA20,downstream_gene_variant,,ENST00000511845,;	1087	40	46	SUCCESS
SDK2	54549	.	GRCh37	17	71429982	71429982	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779304466	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	66	0	ENST00000392650.3:c.1201G>A	p.Ala401Thr	p.A401T	ENST00000392650	NM_001144952.1	401	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45769.1	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCGATGC	NONE	byFrequency	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000376421	.	10/45	.	.	.	.	.	.	.	.	rs779304466	10/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.368)	.	tolerated(0.07)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Ala401Thr,ENST00000388726,;SDK2,missense_variant,p.Ala401Thr,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	1202	66	81	SUCCESS
RBBP8	5932	.	GRCh37	18	20570915	20570915	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs759738150	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	79	0	ENST00000327155.5:c.823A>C	p.Met275Leu	p.M275L	ENST00000327155	NM_002894.2	275	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS11875.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCATGAGC	NONE	.	.	hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF2	.	.	ENSP00000382628	.	10/19	.	.	.	.	.	.	.	.	rs759738150	10/19	PASS	ENST00000399722	Transcript	.	.	ENSG00000101773	9891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	COM1_HUMAN	RBBP8	HGNC	J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN	.	UPI000013D1A9	SNV	RBBP8,missense_variant,p.Met275Leu,ENST00000399722,;RBBP8,missense_variant,p.Met275Leu,ENST00000360790,;RBBP8,missense_variant,p.Met275Leu,ENST00000399725,;RBBP8,missense_variant,p.Met275Leu,ENST00000399721,;RBBP8,missense_variant,p.Met275Leu,ENST00000327155,;RBBP8,upstream_gene_variant,,ENST00000583057,;RBBP8,downstream_gene_variant,,ENST00000577445,;RBBP8,3_prime_UTR_variant,,ENST00000585177,;	1174	79	99	SUCCESS
COLEC12	81035	.	GRCh37	18	335067	335067	+	synonymous_variant	Silent	SNP	G	G	A	rs757681445	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	50	0	ENST00000400256.3:c.1491C>T	p.Gly497=	p.G497=	ENST00000400256	NM_130386.2	497	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32782.1	1491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCGCCACG	NONE	byFrequency	.	Pfam_domain:PF01391,hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19,Low_complexity_(Seg):seg	.	.	ENSP00000383115	.	6/10	.	.	.	.	.	.	.	.	rs757681445	6/10	PASS	ENST00000400256	Transcript	.	.	ENSG00000158270	16016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COL12_HUMAN	COLEC12	HGNC	.	.	UPI00002018EC	SNV	COLEC12,synonymous_variant,p.%3D,ENST00000400256,;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	1699	50	67	SUCCESS
MOCOS	55034	.	GRCh37	18	33846710	33846710	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	58	0	ENST00000261326.5:c.2410-2A>T		p.X804_splice	ENST00000261326	NM_017947.2	804		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11919.1	.	MUTECT|MUSE	.	CTGCCAGGTTT	NONE	.	.	.	.	.	ENSP00000261326	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	HIGH	13/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,splice_acceptor_variant,,ENST00000261326,;MOCOS,splice_acceptor_variant,,ENST00000588132,;	.	58	84	SUCCESS
COLEC12	81035	.	GRCh37	18	346985	346985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	43	0	ENST00000400256.3:c.637C>A	p.Gln213Lys	p.Q213K	ENST00000400256	NM_130386.2	213	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS32782.1	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGGGTCA	NONE	.	.	hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19	.	.	ENSP00000383115	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000400256	Transcript	.	.	ENSG00000158270	16016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	deleterious(0.02)	.	COL12_HUMAN	COLEC12	HGNC	.	.	UPI00002018EC	SNV	COLEC12,missense_variant,p.Gln213Lys,ENST00000400256,;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	845	43	73	SUCCESS
HAUS1	115106	.	GRCh37	18	43703316	43703316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	79	221	0	ENST00000282058.6:c.652G>T	p.Val218Leu	p.V218L	ENST00000282058	NM_138443.3	218	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS11928.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTAGTAGCA	NONE	.	.	hmmpanther:PTHR31570	.	.	ENSP00000282058	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000282058	Transcript	.	.	ENSG00000152240	25174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.11)	.	HAUS1_HUMAN	HAUS1	HGNC	.	.	UPI0000073700	SNV	HAUS1,missense_variant,p.Ser86Ile,ENST00000585518,;HAUS1,missense_variant,p.Val218Leu,ENST00000282058,;HAUS1,downstream_gene_variant,,ENST00000592471,;RNU6-1278P,upstream_gene_variant,,ENST00000516130,;HAUS1,non_coding_transcript_exon_variant,,ENST00000588704,;HAUS1,upstream_gene_variant,,ENST00000585425,;HAUS1,3_prime_UTR_variant,,ENST00000592206,;HAUS1,3_prime_UTR_variant,,ENST00000591715,;HAUS1,3_prime_UTR_variant,,ENST00000593165,;HAUS1,3_prime_UTR_variant,,ENST00000589554,;HAUS1,non_coding_transcript_exon_variant,,ENST00000595199,;HAUS1,intron_variant,,ENST00000586060,;HAUS1,downstream_gene_variant,,ENST00000591098,;	732	221	296	SUCCESS
HMSD	284293	.	GRCh37	18	61627540	61627540	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	72	98	0	ENST00000408945.3:c.371A>G	p.Asn124Ser	p.N124S	ENST00000408945	NM_001123366.1	124	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42441.1	371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATAATATTT	BUFFER|p.F122F|c.366C>T|5,BUFFER|p.D123N|c.367G>A|3	.	.	hmmpanther:PTHR11461:SF123,hmmpanther:PTHR11461	.	.	ENSP00000386207	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000408945	Transcript	.	.	ENSG00000221887	23037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.89)	.	HMSD_HUMAN	HMSD	HGNC	.	.	UPI00001609A8	SNV	HMSD,missense_variant,p.Asn124Ser,ENST00000408945,;HMSD,downstream_gene_variant,,ENST00000526932,;HMSD,intron_variant,,ENST00000481726,;HMSD,intron_variant,,ENST00000498680,;	573	98	153	SUCCESS
ANKRD12	23253	.	GRCh37	18	9255216	9255216	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	120	248	0	ENST00000262126.4:c.1951A>G	p.Lys651Glu	p.K651E	ENST00000262126	NM_015208.4	651	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11843.1	1951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTAAAAAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Lys651Glu,ENST00000262126,;ANKRD12,missense_variant,p.Lys628Glu,ENST00000383440,;ANKRD12,missense_variant,p.Lys628Glu,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	2191	248	380	SUCCESS
BRD4	23476	.	GRCh37	19	15355195	15355195	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	51	0	ENST00000263377.2:c.2428C>T	p.Pro810Ser	p.P810S	ENST00000263377	NM_058243.2	810	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12328.1	2428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCTCCA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143	.	.	ENSP00000263377	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,missense_variant,p.Pro810Ser,ENST00000263377,;BRD4,downstream_gene_variant,,ENST00000371835,;BRD4,downstream_gene_variant,,ENST00000594066,;	2650	51	70	SUCCESS
ZNF506	440515	.	GRCh37	19	19905366	19905366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	73	0	ENST00000443905.2:c.1330A>G	p.Arg444Gly	p.R444G	ENST00000443905		444	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS42531.1	1330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTTATGC	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF82	.	.	ENSP00000393835	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000443905	Transcript	.	.	ENSG00000081665	23780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious_low_confidence(0)	.	ZN506_HUMAN	ZNF506	HGNC	K7ERD0_HUMAN	.	UPI00001B6472	SNV	ZNF506,missense_variant,p.Arg412Gly,ENST00000450683,;ZNF506,missense_variant,p.Arg444Gly,ENST00000443905,;ZNF506,missense_variant,p.Arg444Gly,ENST00000540806,;ZNF506,intron_variant,,ENST00000590766,;ZNF506,intron_variant,,ENST00000587461,;ZNF506,downstream_gene_variant,,ENST00000590319,;ZNF506,downstream_gene_variant,,ENST00000587452,;ZNF506,downstream_gene_variant,,ENST00000545006,;CTC-559E9.4,intron_variant,,ENST00000590274,;CTC-559E9.6,intron_variant,,ENST00000591884,;CTC-559E9.6,intron_variant,,ENST00000589657,;CTC-559E9.5,upstream_gene_variant,,ENST00000590697,;ZNF506,missense_variant,p.Arg444Gly,ENST00000591639,;ZNF506,intron_variant,,ENST00000586260,;ZNF506,downstream_gene_variant,,ENST00000587822,;	1478	73	81	SUCCESS
ZNF714	148206	.	GRCh37	19	21300669	21300669	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs760638774	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	45	0	ENST00000596143.1:c.1199A>T	p.Glu400Val	p.E400V	ENST00000596143	NM_182515.3	400	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54239.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAATGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF104,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472368	.	5/5	.	.	.	.	.	.	.	.	rs760638774	5/5	PASS	ENST00000596143	Transcript	.	.	ENSG00000160352	27124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	deleterious(0.01)	.	ZN714_HUMAN	ZNF714	HGNC	M0R2G4_HUMAN,M0QYV9_HUMAN	.	UPI000059D6C5	SNV	ZNF714,missense_variant,p.Glu400Val,ENST00000596143,;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000596367,;ZNF714,downstream_gene_variant,,ENST00000597424,;ZNF714,downstream_gene_variant,,ENST00000597086,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Glu400Val,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;	1524	45	56	SUCCESS
CD177	57126	.	GRCh37	19	43859672	43859672	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	rs765637419	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	19	0	ENST00000457794.2:c.385A>T	p.Met129Leu	p.M129L	ENST00000457794		129	Atg/Ttg	0	.	.	.	.	.	T	M/L	nonsense_mediated_decay	YES	.	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCATGATG	NONE	.	.	.	.	.	ENSP00000388794	.	4/9	.	.	.	.	.	.	.	.	rs765637419	4/9	PASS	ENST00000457794	Transcript	.	.	ENSG00000204936	30072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.73)	.	CD177_HUMAN	CD177	HGNC	.	.	UPI000013C4F9	SNV	CD177,missense_variant,p.Met129Leu,ENST00000378012,;CD177,intron_variant,,ENST00000378009,;CD177,missense_variant,p.Met129Leu,ENST00000457794,;CD177,downstream_gene_variant,,ENST00000607855,;CD177,intron_variant,,ENST00000607517,;	385	19	15	SUCCESS
CEACAM16	388551	.	GRCh37	19	45209000	45209000	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs758738520	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	52	111	0	ENST00000405314.2:c.802G>C	p.Gly268Arg	p.G268R	ENST00000405314		268	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS54278.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACGGGCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF127,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000466561	.	5/7	.	.	.	.	.	.	.	.	rs758738520	5/7	PASS	ENST00000587331	Transcript	1	.	ENSG00000213892	31948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CEA16_HUMAN	CEACAM16	HGNC	.	.	UPI00001D8176	SNV	CEACAM16,missense_variant,p.Gly268Arg,ENST00000587331,;CEACAM16,missense_variant,p.Gly268Arg,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	1017	111	158	SUCCESS
MYH14	79784	.	GRCh37	19	50766619	50766619	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	91	0	ENST00000376970.2:c.2612G>T	p.Arg871Leu	p.R871L	ENST00000376970	NM_024729.3	871	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS54295.1	2636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGGAACT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Gene3D:1wdcA00,Superfamily_domains:SSF52540	.	.	ENSP00000470298	.	22/43	.	.	.	.	.	.	.	.	.	22/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Arg879Leu,ENST00000440075,;MYH14,missense_variant,p.Arg879Leu,ENST00000601313,;MYH14,missense_variant,p.Arg871Leu,ENST00000376970,;MYH14,missense_variant,p.Arg838Leu,ENST00000596571,;MYH14,missense_variant,p.Arg846Leu,ENST00000425460,;MYH14,missense_variant,p.Arg846Leu,ENST00000599920,;MYH14,missense_variant,p.Arg846Leu,ENST00000598205,;MYH14,missense_variant,p.Arg879Leu,ENST00000262269,;	2666	91	107	SUCCESS
KLK7	5650	.	GRCh37	19	51485634	51485634	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	39	0	ENST00000391807.1:c.22C>A	p.Pro8Thr	p.P8T	ENST00000391807	NM_139277.2	8	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12812.1	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCAGGA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000375683	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000391807	Transcript	.	.	ENSG00000169035	6368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.23)	.	KLK7_HUMAN	KLK7	HGNC	M0QYU8_HUMAN,B4DHX9_HUMAN	.	UPI0000001BC4	SNV	KLK7,missense_variant,p.Pro8Thr,ENST00000595820,;KLK7,missense_variant,p.Pro8Thr,ENST00000391807,;KLK7,5_prime_UTR_variant,,ENST00000593904,;KLK7,5_prime_UTR_variant,,ENST00000336317,;KLK7,intron_variant,,ENST00000597707,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,non_coding_transcript_exon_variant,,ENST00000595638,;KLK7,missense_variant,p.Pro8Thr,ENST00000304045,;	124	39	56	SUCCESS
NLRP12	91662	.	GRCh37	19	54314495	54314495	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	80	0	ENST00000324134.6:c.418A>T	p.Met140Leu	p.M140L	ENST00000324134	NM_144687.3	140	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS12864.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATGAGCC	NONE	.	.	hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF14484	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0.04)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Met140Leu,ENST00000535162,;NLRP12,missense_variant,p.Met140Leu,ENST00000391775,;NLRP12,missense_variant,p.Met140Leu,ENST00000354278,;NLRP12,missense_variant,p.Met140Leu,ENST00000391773,;NLRP12,missense_variant,p.Met140Leu,ENST00000324134,;NLRP12,missense_variant,p.Met140Leu,ENST00000391772,;NLRP12,missense_variant,p.Met140Leu,ENST00000345770,;NLRP12,missense_variant,p.Met140Leu,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	587	80	93	SUCCESS
MUC16	94025	.	GRCh37	19	9043453	9043453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	50	0	ENST00000397910.4:c.36076C>A	p.His12026Asn	p.H12026N	ENST00000397910	NM_024690.2	12026	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS54212.1	36076	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGATGGTTAT	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	6/84	.	.	.	.	.	.	.	.	.	6/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.His12026Asn,ENST00000397910,;	36280	50	69	SUCCESS
ANGPTL7	10218	.	GRCh37	1	11249740	11249740	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs554783669	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	53	138	0	ENST00000376819.3:c.104C>T	p.Pro35Leu	p.P35L	ENST00000376819	NM_021146.3	35	cCa/cTa	0	.	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS128.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCAGCAC	NONE	by1000G	.	.	T:0.001	.	ENSP00000366015	T:0	1/5	.	.	.	.	.	.	.	.	rs554783669	1/5	PASS	ENST00000376819	Transcript	.	T:0.0002	ENSG00000171819	24078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	T:0	tolerated_low_confidence(0.11)	.	ANGL7_HUMAN	ANGPTL7	HGNC	F1T0A6_HUMAN	.	UPI0000035976	SNV	ANGPTL7,missense_variant,p.Pro35Leu,ENST00000376819,;MTOR,intron_variant,,ENST00000361445,;ANGPTL7,upstream_gene_variant,,ENST00000476934,;	343	138	144	SUCCESS
SLC22A15	55356	.	GRCh37	1	116574319	116574319	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	26	0	ENST00000369503.4:c.944+117T>A		p.*315*	ENST00000369503	NM_018420.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44198.1	.	MUTECT|MUSE	.	GAGGTTGTTTT	NONE	.	.	.	.	.	ENSP00000358515	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369503	Transcript	.	.	ENSG00000163393	20301	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22AF_HUMAN	SLC22A15	HGNC	B3KWH0_HUMAN	.	UPI000007412F	SNV	SLC22A15,3_prime_UTR_variant,,ENST00000369502,;SLC22A15,intron_variant,,ENST00000369503,;SLC22A15,upstream_gene_variant,,ENST00000481127,;	.	26	31	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144892215	144892215	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	37	148	0	ENST00000369354.3:c.2904+286A>T		p.*968*	ENST00000369354				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55627.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTATAGC	NONE	.	.	.	.	.	ENSP00000358363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODIFIER	22/43	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,stop_lost,p.Ter970LeuextTer78,ENST00000369349,;PDE4DIP,stop_lost,p.Ter1133LeuextTer78,ENST00000313431,;PDE4DIP,3_prime_UTR_variant,,ENST00000369351,;PDE4DIP,intron_variant,,ENST00000369354,;PDE4DIP,intron_variant,,ENST00000491426,;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000313382,;PDE4DIP,intron_variant,,ENST00000369356,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000524974,;PDE4DIP,downstream_gene_variant,,ENST00000533963,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	.	148	222	SUCCESS
FLG2	388698	.	GRCh37	1	152323287	152323287	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	47	98	0	ENST00000388718.5:c.6975A>T	p.Ala2325=	p.A2325=	ENST00000388718	NM_001014342.2	2325	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30861.1	6975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTTGCTCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	7048	98	137	SUCCESS
ASH1L	55870	.	GRCh37	1	155319387	155319387	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	81	204	0	ENST00000368346.3:c.7382A>G	p.Asp2461Gly	p.D2461G	ENST00000368346		2461	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1113.2	7367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAATCTGCA	NONE	.	.	Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000376204	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated_low_confidence(0.05)	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Asp2461Gly,ENST00000368346,;ASH1L,missense_variant,p.Asp2456Gly,ENST00000392403,;MIR555,upstream_gene_variant,,ENST00000384987,;ASH1L,upstream_gene_variant,,ENST00000478837,;ASH1L,upstream_gene_variant,,ENST00000492987,;	7846	204	234	SUCCESS
CD5L	922	.	GRCh37	1	157805814	157805814	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749053734	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	42	0	ENST00000368174.4:c.187C>T	p.Arg63Trp	p.R63W	ENST00000368174	NM_005894.2	63	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1171.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGGCACA	NONE	byFrequency	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,PROSITE_patterns:PS00420,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	3/6	.	.	.	.	.	.	.	.	rs749053734	3/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	deleterious(0.03)	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,missense_variant,p.Arg63Trp,ENST00000368174,;CD5L,non_coding_transcript_exon_variant,,ENST00000484609,;	284	42	73	SUCCESS
SPTA1	6708	.	GRCh37	1	158595952	158595952	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	47	94	0	ENST00000368147.4:c.5894C>A	p.Thr1965Asn	p.T1965N	ENST00000368147	NM_003126.2	1965	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS41423.1	5894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGTGAGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	42/52	.	.	.	.	.	.	.	.	.	42/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	deleterious(0.03)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Thr1965Asn,ENST00000368147,;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;	6075	94	152	SUCCESS
FCRL6	343413	.	GRCh37	1	159772232	159772232	+	synonymous_variant	Silent	SNP	T	T	A	rs754387815	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	37	0	ENST00000368106.3:c.18T>A	p.Ala6=	p.A6=	ENST00000368106	NM_001004310.2	6	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30912.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCTGTGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000357086	.	1/10	.	.	.	.	.	.	.	.	rs754387815	1/10	PASS	ENST00000368106	Transcript	.	.	ENSG00000181036	31910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL6_HUMAN	FCRL6	HGNC	.	.	UPI0000D62020	SNV	FCRL6,synonymous_variant,p.%3D,ENST00000392235,;FCRL6,synonymous_variant,p.%3D,ENST00000339348,;FCRL6,synonymous_variant,p.%3D,ENST00000321935,;FCRL6,synonymous_variant,p.%3D,ENST00000368106,;FCRL6,intron_variant,,ENST00000536257,;FCRL6,non_coding_transcript_exon_variant,,ENST00000541729,;FCRL6,intron_variant,,ENST00000540741,;	19	37	56	SUCCESS
DCAF6	55827	.	GRCh37	1	167973163	167973163	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	107	181	0	ENST00000312263.6:c.1053A>G	p.Arg351=	p.R351=	ENST00000312263	NM_001017977.2	351	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS55657.1	1053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGATGGTT	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11	.	.	ENSP00000356814	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,synonymous_variant,p.%3D,ENST00000432587,;DCAF6,synonymous_variant,p.%3D,ENST00000367840,;DCAF6,synonymous_variant,p.%3D,ENST00000312263,;DCAF6,synonymous_variant,p.%3D,ENST00000367843,;DCAF6,synonymous_variant,p.%3D,ENST00000470721,;	1147	181	278	SUCCESS
SLC19A2	10560	.	GRCh37	1	169446983	169446983	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	117	197	0	ENST00000236137.5:c.217A>G	p.Ile73Val	p.I73V	ENST00000236137	NM_006996.2	73	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1280.1	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATTTCAT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,PIRSF_domain:PIRSF500794,PIRSF_domain:PIRSF028739,Pfam_domain:PF01770,hmmpanther:PTHR10686:SF13,hmmpanther:PTHR10686	.	.	ENSP00000236137	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000236137	Transcript	.	.	ENSG00000117479	10938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	tolerated(0.21)	.	S19A2_HUMAN	SLC19A2	HGNC	.	.	UPI0000036177	SNV	SLC19A2,missense_variant,p.Ile73Val,ENST00000236137,;SLC19A2,intron_variant,,ENST00000367804,;RP1-206D15.5,upstream_gene_variant,,ENST00000452472,;	454	197	300	SUCCESS
WNT9A	7483	.	GRCh37	1	228109383	228109383	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	81	0	ENST00000272164.5:c.934A>T	p.Arg312Trp	p.R312W	ENST00000272164	NM_003395.2	312	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31045.1	934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTACGGC	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF75,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000272164	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000272164	Transcript	.	.	ENSG00000143816	12778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.02)	.	WNT9A_HUMAN	WNT9A	HGNC	D9ZGG3_HUMAN	.	UPI000005104B	SNV	WNT9A,missense_variant,p.Arg312Trp,ENST00000272164,;	945	81	94	SUCCESS
OBSCN	84033	.	GRCh37	1	228447295	228447295	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	95	0	ENST00000422127.1:c.4585+2668A>T		p.*1529*	ENST00000422127	NM_001098623.2	1652		0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS59204.1	4955	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCAGGCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	17/116	.	.	.	.	.	.	.	.	.	17/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Gln124Leu,ENST00000359599,;OBSCN,missense_variant,p.Gln1652Leu,ENST00000570156,;OBSCN,intron_variant,,ENST00000366707,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;	5029	95	92	SUCCESS
PGBD5	79605	.	GRCh37	1	230492898	230492898	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	86	0	ENST00000525115.1:c.294G>C	p.Met98Ile	p.M98I	ENST00000525115		98	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	.	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCATCTC	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000431404	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000525115	Transcript	.	.	ENSG00000177614	19405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.32)	.	PGBD5_HUMAN	PGBD5	HGNC	.	.	UPI0001D34147	SNV	PGBD5,missense_variant,p.Met197Ile,ENST00000321327,;PGBD5,missense_variant,p.Met52Ile,ENST00000391860,;PGBD5,missense_variant,p.Met98Ile,ENST00000525115,;	318	86	113	SUCCESS
PCNXL2	0	.	GRCh37	1	233388234	233388234	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1185651086	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	47	117	0	ENST00000258229.9:c.1994A>G	p.Asn665Ser	p.N665S	ENST00000258229	NM_014801.3	665	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS44335.1	1994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTATTGCCC	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.77)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Asn665Ser,ENST00000258229,;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,missense_variant,p.Asn96Ser,ENST00000475463,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000324142,;	2229	117	130	SUCCESS
RYR2	6262	.	GRCh37	1	237814791	237814791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	70	130	0	ENST00000366574.2:c.7814T>A	p.Met2605Lys	p.M2605K	ENST00000366574	NM_001035.2	2605	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS55691.1	7814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGCCTC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	51/105	.	.	.	.	.	.	.	.	.	51/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.581)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Met2589Lys,ENST00000542537,;RYR2,missense_variant,p.Met2605Lys,ENST00000366574,;RYR2,missense_variant,p.Met2603Lys,ENST00000360064,;	8131	130	190	SUCCESS
FMN2	56776	.	GRCh37	1	240370818	240370818	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	56	114	1	ENST00000319653.9:c.2706G>T	p.Leu902=	p.L902=	ENST00000319653	NM_020066.4	902	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31069.2	2706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGCAGGG	NONE	.	.	hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,SMART_domains:SM00498,Prints_domain:PR01217	.	.	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,synonymous_variant,p.%3D,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	2936	115	139	SUCCESS
WDR64	128025	.	GRCh37	1	241912886	241912886	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	26	144	0	ENST00000366552.2:c.1602G>A	p.Glu534=	p.E534=	ENST00000366552	NM_144625.4	534	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	.	1602	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGATGAA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000355510	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000366552	Transcript	.	.	ENSG00000162843	26570	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR64_HUMAN	WDR64	HGNC	D6RCR1_HUMAN	.	UPI0000519142	SNV	WDR64,synonymous_variant,p.%3D,ENST00000437684,;WDR64,synonymous_variant,p.%3D,ENST00000366552,;WDR64,synonymous_variant,p.%3D,ENST00000414635,;WDR64,synonymous_variant,p.%3D,ENST00000425826,;WDR64,synonymous_variant,p.%3D,ENST00000472717,;WDR64,intron_variant,,ENST00000468967,;	1809	144	216	SUCCESS
OR2G2	81470	.	GRCh37	1	247752022	247752022	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	36	106	0	ENST00000320065.1:c.361A>T	p.Met121Leu	p.M121L	ENST00000320065	NM_001001915.1	121	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS31092.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGATGTCC	BUFFER|p.V120L|c.358G>C|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326349	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320065	Transcript	.	.	ENSG00000177489	15007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	deleterious(0)	.	OR2G2_HUMAN	OR2G2	HGNC	.	.	UPI0000061EB9	SNV	OR2G2,missense_variant,p.Met121Leu,ENST00000320065,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	361	106	144	SUCCESS
OR14C36	127066	.	GRCh37	1	248512548	248512548	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	35	0	ENST00000317861.1:c.472A>T	p.Thr158Ser	p.T158S	ENST00000317861	NM_001001918.1	158	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS31112.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACACTGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF180,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324534	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317861	Transcript	.	.	ENSG00000177174	15026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.04)	.	O14CZ_HUMAN	OR14C36	HGNC	.	.	UPI0000041CB1	SNV	OR14C36,missense_variant,p.Thr158Ser,ENST00000317861,;	472	35	49	SUCCESS
STMN1	3925	.	GRCh37	1	26230232	26230232	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	55	0	ENST00000357865.2:c.86A>T	p.Lys29Ile	p.K29I	ENST00000357865		29	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS44090.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTTTTGAC	NONE	.	.	PROSITE_profiles:PS51663,hmmpanther:PTHR10104,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285,Superfamily_domains:0043535	.	.	ENSP00000410452	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000426559	Transcript	.	.	ENSG00000117632	6510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.244)	.	tolerated(0.26)	.	STMN1_HUMAN	STMN1	HGNC	A2A2D0_HUMAN	.	UPI000191512D	SNV	STMN1,missense_variant,p.Lys29Ile,ENST00000399728,;STMN1,missense_variant,p.Lys29Ile,ENST00000426559,;STMN1,missense_variant,p.Lys29Ile,ENST00000446334,;STMN1,missense_variant,p.Lys29Ile,ENST00000374291,;STMN1,missense_variant,p.Lys29Ile,ENST00000357865,;STMN1,missense_variant,p.Lys29Ile,ENST00000455785,;MIR3917,downstream_gene_variant,,ENST00000580971,;STMN1,non_coding_transcript_exon_variant,,ENST00000465604,;STMN1,non_coding_transcript_exon_variant,,ENST00000485226,;	226	55	67	SUCCESS
CYP4B1	1580	.	GRCh37	1	47279879	47279879	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	68	0	ENST00000271153.4:c.773-2A>G		p.X258_splice	ENST00000271153		258		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41328.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGACCA	NONE	.	.	.	.	.	ENSP00000360991	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371923	Transcript	.	.	ENSG00000142973	2644	.	.	HIGH	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4B1_HUMAN	CYP4B1	HGNC	F5H1Q8_HUMAN,E7EME6_HUMAN	.	UPI0000073C54	SNV	CYP4B1,splice_acceptor_variant,,ENST00000468637,;CYP4B1,splice_acceptor_variant,,ENST00000371923,;CYP4B1,splice_acceptor_variant,,ENST00000271153,;CYP4B1,splice_acceptor_variant,,ENST00000371919,;CYP4B1,splice_acceptor_variant,,ENST00000452782,;CYP4B1,downstream_gene_variant,,ENST00000526297,;CYP4B1,downstream_gene_variant,,ENST00000546128,;CYP4B1,upstream_gene_variant,,ENST00000497005,;CYP4B1,splice_acceptor_variant,,ENST00000464439,;CYP4B1,splice_acceptor_variant,,ENST00000529715,;CYP4B1,splice_acceptor_variant,,ENST00000534708,;CYP4B1,upstream_gene_variant,,ENST00000481248,;	.	68	77	SUCCESS
CYP4A11	1579	.	GRCh37	1	47400132	47400132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	42	107	0	ENST00000310638.4:c.890T>C	p.Leu297Ser	p.L297S	ENST00000310638	NM_000778.3	297	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS543.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAAGAGG	NONE	.	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000311095	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000310638	Transcript	.	.	ENSG00000187048	2642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.69)	.	CP4AB_HUMAN	CYP4A11	HGNC	.	.	UPI00001281E4	SNV	CYP4A11,missense_variant,p.Leu298Ser,ENST00000371904,;CYP4A11,missense_variant,p.Leu297Ser,ENST00000371905,;CYP4A11,missense_variant,p.Leu297Ser,ENST00000310638,;CYP4A11,synonymous_variant,p.%3D,ENST00000462347,;CYP4A11,synonymous_variant,p.%3D,ENST00000457840,;CYP4A11,upstream_gene_variant,,ENST00000496519,;CYP4A11,missense_variant,p.Leu265Ser,ENST00000468629,;CYP4A11,synonymous_variant,p.%3D,ENST00000475477,;CYP4A11,synonymous_variant,p.%3D,ENST00000474458,;CYP4A11,intron_variant,,ENST00000465874,;	922	107	163	SUCCESS
LRP8	7804	.	GRCh37	1	53715077	53715077	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	85	0	ENST00000306052.6:c.2828C>T	p.Ser943Phe	p.S943F	ENST00000306052	NM_004631.4	943	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS578.1	2828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGGAAAGA	NONE	.	.	.	.	.	ENSP00000303634	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	deleterious_low_confidence(0.01)	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,missense_variant,p.Ser943Phe,ENST00000306052,;LRP8,missense_variant,p.Ser773Phe,ENST00000347547,;LRP8,intron_variant,,ENST00000465675,;LRP8,intron_variant,,ENST00000371454,;LRP8,intron_variant,,ENST00000354412,;RP5-1024G6.8,upstream_gene_variant,,ENST00000602943,;LRP8,3_prime_UTR_variant,,ENST00000480045,;LRP8,intron_variant,,ENST00000529670,;LRP8,downstream_gene_variant,,ENST00000459674,;	2930	85	102	SUCCESS
L1TD1	54596	.	GRCh37	1	62676178	62676178	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	109	245	1	ENST00000498273.1:c.1732A>T	p.Ser578Cys	p.S578C	ENST00000498273	NM_019079.4	578	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS619.1	1732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGAGTATT	NONE	.	.	hmmpanther:PTHR11505,hmmpanther:PTHR11505:SF189,Pfam_domain:PF02994	.	.	ENSP00000419901	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000498273	Transcript	.	.	ENSG00000240563	25595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	LITD1_HUMAN	L1TD1	HGNC	.	.	UPI000013E18E	SNV	L1TD1,missense_variant,p.Ser578Cys,ENST00000498273,;Y_RNA,upstream_gene_variant,,ENST00000363304,;RP5-1155K23.4,upstream_gene_variant,,ENST00000450606,;	2027	247	326	SUCCESS
NKX2-4	644524	.	GRCh37	20	21377078	21377078	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	36	33	0	ENST00000351817.4:c.536T>G	p.Leu179Arg	p.L179R	ENST00000351817	NM_033176.1	179	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS42855.1	536	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCAGCGGG	NONE	.	.	Gene3D:1.10.10.60,hmmpanther:PTHR24340:SF25,hmmpanther:PTHR24340	.	.	ENSP00000345147	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000351817	Transcript	.	.	ENSG00000125816	7837	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NKX24_HUMAN	NKX2-4	HGNC	.	.	UPI00001AE6EC	SNV	NKX2-4,missense_variant,p.Leu179Arg,ENST00000351817,;RP11-227D2.3,upstream_gene_variant,,ENST00000552439,;RP11-227D2.3,upstream_gene_variant,,ENST00000419666,;	1165	33	71	SUCCESS
COX4I2	84701	.	GRCh37	20	30227900	30227900	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1262	321	816	0	ENST00000376075.3:c.247T>A	p.Leu83Met	p.L83M	ENST00000376075	NM_032609.2	83	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS13187.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTGTAAG	NONE	.	.	Superfamily_domains:0041782,Pfam_domain:PF02936,Gene3D:1v54D00,hmmpanther:PTHR10707:SF7,hmmpanther:PTHR10707	.	.	ENSP00000365243	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000376075	Transcript	1	.	ENSG00000131055	16232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	COX42_HUMAN	COX4I2	HGNC	H6SG14_HUMAN	.	UPI000013CDC9	SNV	COX4I2,missense_variant,p.Leu83Met,ENST00000376075,;COX4I2,splice_region_variant,,ENST00000490030,;	322	816	1584	SUCCESS
ASXL1	171023	.	GRCh37	20	30946482	30946482	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs570751501	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	13	14	0	ENST00000375687.4:c.-97C>T		p.*33*	ENST00000375687	NM_015338.5			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS13201.1	.	MUTECT|MUSE	.	GCGCCCCCCCC	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000364839	T:0	1/13	.	.	.	.	.	.	.	.	rs570751501	1/13	PASS	ENST00000375687	Transcript	1	T:0.0026	ENSG00000171456	18318	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.0133	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,5_prime_UTR_variant,,ENST00000375687,;ASXL1,5_prime_UTR_variant,,ENST00000542461,;ASXL1,upstream_gene_variant,,ENST00000497249,;ASXL1,upstream_gene_variant,,ENST00000306058,;ASXL1,upstream_gene_variant,,ENST00000375689,;ASXL1,upstream_gene_variant,,ENST00000555343,;	328	14	20	SUCCESS
DHX35	60625	.	GRCh37	20	37597805	37597806	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	152	19	79	0	ENST00000252011.3:c.124dup	p.Tyr42LeufsTer19	p.Y42Lfs*19	ENST00000252011	NM_021931.3	41	cct/ccTt	0	.	.	.	.	.	T	P/PX	protein_coding	YES	CCDS13310.1	122-123	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACCCTTATG	NONE	.	.	hmmpanther:PTHR18934,Superfamily_domains:SSF52540	.	.	ENSP00000252011	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000252011	Transcript	.	.	ENSG00000101452	15861	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX35_HUMAN	DHX35	HGNC	.	.	UPI0000129088	insertion	DHX35,frameshift_variant,p.Tyr42LeufsTer19,ENST00000252011,;DHX35,frameshift_variant,p.Tyr42LeufsTer19,ENST00000373325,;DHX35,frameshift_variant,p.Tyr42LeufsTer27,ENST00000373323,;DHX35,frameshift_variant,p.Tyr42LeufsTer19,ENST00000484417,;	155-156	79	171	SUCCESS
TOP1	7150	.	GRCh37	20	39709835	39709835	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	378	79	163	0	ENST00000361337.2:c.462A>G	p.Thr154=	p.T154=	ENST00000361337	NM_003286.2	154	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS13312.1	462	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACAGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1	.	.	ENSP00000354522	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000361337	Transcript	.	.	ENSG00000198900	11986	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TOP1_HUMAN	TOP1	HGNC	Q9BVT2_HUMAN	.	UPI000004F0B1	SNV	TOP1,synonymous_variant,p.%3D,ENST00000361337,;	712	163	457	SUCCESS
SYCP2	10388	.	GRCh37	20	58468254	58468254	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	39	0	ENST00000357552.3:c.1736G>C	p.Ser579Thr	p.S579T	ENST00000357552		579	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS13482.1	1736	MUTECT|MUSE	.	GTTCACCTAAA	NONE	.	.	hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	.	ENSP00000350162	.	22/45	.	.	.	.	.	.	.	.	.	22/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	deleterious(0.04)	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	SNV	SYCP2,missense_variant,p.Ser579Thr,ENST00000446834,;SYCP2,missense_variant,p.Ser579Thr,ENST00000357552,;SYCP2,missense_variant,p.Ser579Thr,ENST00000371001,;	1962	39	87	SUCCESS
SLC52A3	113278	.	GRCh37	20	746252	746252	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	127	78	0	ENST00000217254.7:c.167T>G	p.Leu56Arg	p.L56R	ENST00000217254	NM_033409.3	56	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS13007.1	167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAGGGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF4,hmmpanther:PTHR12929	.	.	ENSP00000217254	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000217254	Transcript	1	.	ENSG00000101276	16187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	S52A3_HUMAN	SLC52A3	HGNC	K0A6P4_HUMAN	.	UPI000002A74E	SNV	SLC52A3,missense_variant,p.Leu56Arg,ENST00000381944,;SLC52A3,missense_variant,p.Leu56Arg,ENST00000217254,;SLC52A3,non_coding_transcript_exon_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	409	78	200	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19666622	19666622	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	70	0	ENST00000284885.3:c.2451T>A	p.Ser817Arg	p.S817R	ENST00000284885	NM_002772.2	817	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS13571.1	2451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCACTGCT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000284885	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.88)	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,missense_variant,p.Ser817Arg,ENST00000284885,;	2485	70	80	SUCCESS
SMARCB1	6598	.	GRCh37	22	24135767	24135767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	35	80	0	ENST00000263121.7:c.254C>A	p.Ala85Asp	p.A85D	ENST00000263121	NM_003073.3	85	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13817.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGCCACCA	NONE	.	.	hmmpanther:PTHR10019,PIRSF_domain:PIRSF038126	.	.	ENSP00000263121	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000263121	Transcript	.	.	ENSG00000099956	11103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	deleterious(0.03)	.	SNF5_HUMAN	SMARCB1	HGNC	.	.	UPI00000019FA	SNV	SMARCB1,missense_variant,p.Ala76Asp,ENST00000407422,;SMARCB1,missense_variant,p.Ala85Asp,ENST00000263121,;SMARCB1,missense_variant,p.Ala76Asp,ENST00000344921,;SMARCB1,missense_variant,p.Ala85Asp,ENST00000407082,;SMARCB1,missense_variant,p.Ala85Asp,ENST00000417137,;SMARCB1,upstream_gene_variant,,ENST00000491967,;	450	80	67	SUCCESS
NF2	4771	.	GRCh37	22	30035159	30035159	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	43	76	0	ENST00000338641.4:c.321G>T	p.Glu107Asp	p.E107D	ENST00000338641	NM_000268.3	107	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13861.1	321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGGAGCT	BUFFER|p.E106E|c.318A>G|5,BUFFER|p.E106E|c.318A>G|5	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Gene3D:1.20.80.10,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000344666	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.13)	.	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	SNV	NF2,missense_variant,p.Glu107Asp,ENST00000403435,;NF2,missense_variant,p.Glu65Asp,ENST00000361676,;NF2,missense_variant,p.Glu107Asp,ENST00000338641,;NF2,missense_variant,p.Glu107Asp,ENST00000397789,;NF2,missense_variant,p.Glu107Asp,ENST00000413209,;NF2,missense_variant,p.Glu107Asp,ENST00000361166,;NF2,missense_variant,p.Glu107Asp,ENST00000403999,;NF2,intron_variant,,ENST00000347330,;NF2,intron_variant,,ENST00000353887,;NF2,intron_variant,,ENST00000334961,;NF2,intron_variant,,ENST00000361452,;NF2,intron_variant,,ENST00000432151,;	762	76	75	SUCCESS
NF2	4771	.	GRCh37	22	30035160	30035160	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	43	75	0	ENST00000338641.4:c.322G>T	p.Glu108Ter	p.E108*	ENST00000338641	NM_000268.3	108	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13861.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGAGCTG	BUFFER|p.E106E|c.318A>G|5	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Gene3D:1.20.80.10,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000344666	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	SNV	NF2,stop_gained,p.Glu108Ter,ENST00000403435,;NF2,stop_gained,p.Glu66Ter,ENST00000361676,;NF2,stop_gained,p.Glu108Ter,ENST00000338641,;NF2,stop_gained,p.Glu108Ter,ENST00000397789,;NF2,stop_gained,p.Glu108Ter,ENST00000413209,;NF2,stop_gained,p.Glu108Ter,ENST00000361166,;NF2,stop_gained,p.Glu108Ter,ENST00000403999,;NF2,intron_variant,,ENST00000347330,;NF2,intron_variant,,ENST00000353887,;NF2,intron_variant,,ENST00000334961,;NF2,intron_variant,,ENST00000361452,;NF2,intron_variant,,ENST00000432151,;	763	75	73	SUCCESS
WNT7B	7477	.	GRCh37	22	46327010	46327010	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs200797257	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	18	0	ENST00000339464.4:c.538A>T	p.Met180Leu	p.M180L	ENST00000339464	NM_058238.2	180	Atg/Ttg	0	.	C:0.0008	.	C:0	.	A	M/L	protein_coding	YES	CCDS33667.1	538	RADIA|MUTECT|MUSE	.	GTTCATGAGGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12027:SF73,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	C:0	.	ENSP00000341032	C:0	3/4	.	.	.	.	.	.	.	.	rs200797257	3/4	PASS	ENST00000339464	Transcript	.	C:0.0002	ENSG00000188064	12787	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.728)	C:0	deleterious(0.04)	.	WNT7B_HUMAN	WNT7B	HGNC	B8A598_HUMAN	.	UPI0000001BC6	SNV	WNT7B,missense_variant,p.Met180Leu,ENST00000410058,;WNT7B,missense_variant,p.Met184Leu,ENST00000409496,;WNT7B,missense_variant,p.Met180Leu,ENST00000339464,;WNT7B,missense_variant,p.Met164Leu,ENST00000410089,;WNT7B,downstream_gene_variant,,ENST00000428540,;	913	18	11	SUCCESS
SLC5A7	60482	.	GRCh37	2	108614395	108614395	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	53	119	0	ENST00000264047.2:c.550G>T	p.Val184Leu	p.V184L	ENST00000264047	NM_021815.2	184	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS2074.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTGTGGCC	BUFFER|p.L181H|c.542T>A|3	.	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474	.	.	ENSP00000264047	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000264047	Transcript	.	.	ENSG00000115665	14025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SC5A7_HUMAN	SLC5A7	HGNC	Q2T9H3_HUMAN,F5H382_HUMAN	.	UPI0000070792	SNV	SLC5A7,missense_variant,p.Val184Leu,ENST00000264047,;SLC5A7,missense_variant,p.Val79Leu,ENST00000540517,;SLC5A7,missense_variant,p.Val184Leu,ENST00000409059,;	826	119	149	SUCCESS
THSD7B	80731	.	GRCh37	2	138414490	138414490	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	50	154	0	ENST00000272643.3:c.4239G>T	p.Glu1413Asp	p.E1413D	ENST00000272643		1413	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	.	4239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGAACCA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000272643	.	23/28	.	.	.	.	.	.	.	.	COSM3567049,COSM3567050	23/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious(0.04)	1,1	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Glu1410Asp,ENST00000409968,;THSD7B,missense_variant,p.Glu1382Asp,ENST00000413152,;THSD7B,missense_variant,p.Glu1413Asp,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;THSD7B,downstream_gene_variant,,ENST00000480352,;	4239	154	175	SUCCESS
SCN2A	6326	.	GRCh37	2	166210790	166210790	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	64	148	0	ENST00000283256.6:c.3008T>C	p.Leu1003Pro	p.L1003P	ENST00000283256	NM_021007.2	1003	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS33313.1	3008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCTCCAGA	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF06512	.	.	ENSP00000349973	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,missense_variant,p.Leu1003Pro,ENST00000283256,;SCN2A,missense_variant,p.Leu1003Pro,ENST00000375437,;SCN2A,missense_variant,p.Leu1003Pro,ENST00000375427,;SCN2A,missense_variant,p.Leu1003Pro,ENST00000357398,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	3298	148	165	SUCCESS
XIRP2	129446	.	GRCh37	2	168106385	168106385	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	211	98	237	0	ENST00000409195.1:c.8483T>C	p.Ile2828Thr	p.I2828T	ENST00000409195	NM_152381.5	2828	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS42769.1	8483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATTGGTC	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Ile2606Thr,ENST00000409273,;XIRP2,missense_variant,p.Ile2828Thr,ENST00000409195,;XIRP2,missense_variant,p.Ile2828Thr,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8572	238	309	SUCCESS
TLK1	9874	.	GRCh37	2	171863315	171863315	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	44	89	0	ENST00000431350.2:c.1593A>T	p.Thr531=	p.T531=	ENST00000431350		531	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2241.1	1593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGTATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000411099	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000431350	Transcript	.	.	ENSG00000198586	11841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLK1_HUMAN	TLK1	HGNC	Q53TF9_HUMAN,Q53TE4_HUMAN	.	UPI0000073255	SNV	TLK1,synonymous_variant,p.%3D,ENST00000521943,;TLK1,synonymous_variant,p.%3D,ENST00000442919,;TLK1,synonymous_variant,p.%3D,ENST00000360843,;TLK1,synonymous_variant,p.%3D,ENST00000431350,;TLK1,synonymous_variant,p.%3D,ENST00000434911,;TLK1,3_prime_UTR_variant,,ENST00000409443,;TLK1,3_prime_UTR_variant,,ENST00000359766,;	1998	89	127	SUCCESS
TMEFF2	23671	.	GRCh37	2	192818525	192818525	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200174014	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	61	0	ENST00000272771.5:c.908A>G	p.Lys303Arg	p.K303R	ENST00000272771	NM_016192.2	303	aAg/aGg	0	-:0.0005	C:0	.	C:0.0014	.	C	K/R	protein_coding	YES	CCDS2314.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTTTTTT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57196,Gene3D:2.10.25.10,hmmpanther:PTHR10574	C:0	-:0	ENSP00000272771	C:0	9/10	.	.	.	.	.	.	.	.	rs200174014,TMP_ESP_2_192818525_192818525,COSM4089779,COSM1404160	9/10	PASS	ENST00000272771	Transcript	.	C:0.0002	ENSG00000144339	11867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,1,1	.	.	probably_damaging(0.978)	C:0	tolerated(0.47)	0,0,1,1	TEFF2_HUMAN	TMEFF2	HGNC	.	.	UPI0000048F19	SNV	TMEFF2,missense_variant,p.Lys303Arg,ENST00000272771,;TMEFF2,missense_variant,p.Lys303Arg,ENST00000392314,;AC098617.1,intron_variant,,ENST00000424116,;AC098617.1,intron_variant,,ENST00000428980,;	2093	61	70	SUCCESS
MAP2	4133	.	GRCh37	2	210560650	210560650	+	synonymous_variant	Silent	SNP	A	A	T	rs185809016	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	45	77	0	ENST00000360351.4:c.3756A>T	p.Ser1252=	p.S1252=	ENST00000360351	NM_002374.3	1252	tcA/tcT	0	.	C:0	.	C:0.0029	.	T	S	protein_coding	YES	CCDS2384.1	3756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCAGACAC	BUFFER|p.R1251H|c.3752G>A|3	byFrequency|by1000G	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	C:0	.	ENSP00000353508	C:0	7/15	.	.	.	.	.	.	.	.	rs185809016	7/15	PASS	ENST00000360351	Transcript	.	C:0.0004	ENSG00000078018	6839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,synonymous_variant,p.%3D,ENST00000447185,;MAP2,synonymous_variant,p.%3D,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	4262	77	100	SUCCESS
ABCA12	26154	.	GRCh37	2	215823030	215823030	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	42	77	0	ENST00000272895.7:c.6088T>A	p.Tyr2030Asn	p.Y2030N	ENST00000272895	NM_173076.2	2030	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS33372.1	6088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTAGCATG	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	41/53	.	.	.	.	.	.	.	.	.	41/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Tyr1712Asn,ENST00000389661,;ABCA12,missense_variant,p.Tyr2030Asn,ENST00000272895,;AC072062.1,intron_variant,,ENST00000607412,;AC072062.1,upstream_gene_variant,,ENST00000420134,;	6308	77	132	SUCCESS
STK11IP	114790	.	GRCh37	2	220466361	220466361	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs868821887	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	33	89	1	ENST00000295641.10:c.301-2A>T		p.X101_splice	ENST00000295641	NM_052902.2	101		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46521.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTTTCAGCTGG	NONE	.	.	.	.	.	ENSP00000295641	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295641	Transcript	.	.	ENSG00000144589	19184	.	.	HIGH	3/24	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S11IP_HUMAN	STK11IP	HGNC	C9JQV3_HUMAN	.	UPI0001AE7798	SNV	STK11IP,splice_acceptor_variant,,ENST00000456909,;STK11IP,splice_acceptor_variant,,ENST00000295641,;STK11IP,splice_acceptor_variant,,ENST00000468584,;STK11IP,splice_acceptor_variant,,ENST00000459692,;STK11IP,splice_acceptor_variant,,ENST00000475396,;STK11IP,splice_acceptor_variant,,ENST00000475843,;STK11IP,splice_acceptor_variant,,ENST00000456857,;STK11IP,upstream_gene_variant,,ENST00000466648,;STK11IP,upstream_gene_variant,,ENST00000465230,;	.	90	127	SUCCESS
TRIP12	9320	.	GRCh37	2	230638898	230638898	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	69	0	ENST00000283943.5:c.5384C>G	p.Thr1795Ser	p.T1795S	ENST00000283943	NM_004238.1	1795	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS33391.1	5384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGTGAAA	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Gene3D:1c4zA02,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50237	.	.	ENSP00000283943	.	37/41	.	.	.	.	.	.	.	.	.	37/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Thr1795Ser,ENST00000283943,;TRIP12,missense_variant,p.Thr1525Ser,ENST00000389045,;TRIP12,missense_variant,p.Thr1843Ser,ENST00000389044,;TRIP12,missense_variant,p.Thr93Ser,ENST00000418123,;TRIP12,non_coding_transcript_exon_variant,,ENST00000459841,;	5563	69	99	SUCCESS
DGKD	8527	.	GRCh37	2	234299052	234299052	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763217681	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	68	0	ENST00000264057.2:c.271A>G	p.Ile91Val	p.I91V	ENST00000264057	NM_152879.2	91	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2504.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAATCATA	NONE	byFrequency	.	PROSITE_profiles:PS50003,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000264057	.	3/30	.	.	.	.	.	.	.	.	rs763217681	3/30	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	tolerated(0.56)	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,missense_variant,p.Ile61Val,ENST00000447484,;DGKD,missense_variant,p.Ile91Val,ENST00000264057,;DGKD,missense_variant,p.Ile47Val,ENST00000409813,;DGKD,intron_variant,,ENST00000427930,;AC019221.4,non_coding_transcript_exon_variant,,ENST00000442524,;DGKD,downstream_gene_variant,,ENST00000489613,;	283	68	88	SUCCESS
SPTBN1	6711	.	GRCh37	2	54873140	54873140	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1429177630	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	58	0	ENST00000356805.4:c.4570A>G	p.Ile1524Val	p.I1524V	ENST00000356805	NM_003128.2	1524	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33198.1	4570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTAATAAAG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	22/36	.	.	.	.	.	.	.	.	.	22/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.14)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Ile1511Val,ENST00000333896,;SPTBN1,missense_variant,p.Ile1524Val,ENST00000356805,;	4851	58	79	SUCCESS
CASR	846	.	GRCh37	3	121976018	121976018	+	synonymous_variant	Silent	SNP	G	G	T	rs201013419	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	42	96	0	ENST00000490131.1:c.276G>T	p.Thr92=	p.T92=	ENST00000490131	NM_000388.3	92	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54632.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACGCTGGG	NONE	byCluster	.	hmmpanther:PTHR24061:SF358,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000420194	.	3/7	.	.	.	.	.	.	.	.	rs201013419	3/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,synonymous_variant,p.%3D,ENST00000296154,;CASR,synonymous_variant,p.%3D,ENST00000498619,;CASR,synonymous_variant,p.%3D,ENST00000490131,;CASR,non_coding_transcript_exon_variant,,ENST00000490186,;	714	96	139	SUCCESS
AADACL2	344752	.	GRCh37	3	151474865	151474865	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	49	77	1	ENST00000356517.3:c.689C>T	p.Pro230Leu	p.P230L	ENST00000356517	NM_207365.3	230	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3161.2	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCCATCTC	NONE	.	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF104,Pfam_domain:PF07859,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	.	.	ENSP00000348911	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000356517	Transcript	.	.	ENSG00000197953	24427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADCL2_HUMAN	AADACL2	HGNC	.	.	UPI000015F144	SNV	AADACL2,missense_variant,p.Pro230Leu,ENST00000356517,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;AADACL2,3_prime_UTR_variant,,ENST00000445270,;RP11-64D22.1,downstream_gene_variant,,ENST00000489539,;	798	78	127	SUCCESS
RTP2	344892	.	GRCh37	3	187416345	187416345	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	70	0	ENST00000358241.1:c.619T>A	p.Ser207Thr	p.S207T	ENST00000358241	NM_001004312.2	207	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS33911.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAGGCCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF18	.	.	ENSP00000350976	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358241	Transcript	.	.	ENSG00000198471	32486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.68)	.	RTP2_HUMAN	RTP2	HGNC	.	.	UPI00001D801A	SNV	RTP2,missense_variant,p.Ser207Thr,ENST00000358241,;RP11-211G3.3,upstream_gene_variant,,ENST00000449623,;RP11-211G3.3,upstream_gene_variant,,ENST00000437407,;	1048	70	106	SUCCESS
SETMAR	6419	.	GRCh37	3	4354838	4354838	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	70	0	ENST00000358065.4:c.413A>C	p.Gln138Pro	p.Q138P	ENST00000358065	NM_006515.3	138	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS2563.2	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACAGTTCC	NONE	.	.	Gene3D:2.170.270.10,Superfamily_domains:SSF82199	.	.	ENSP00000373354	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000358065	Transcript	.	.	ENSG00000170364	10762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious_low_confidence(0)	.	SETMR_HUMAN	SETMAR	HGNC	.	.	UPI000066D9D9	SNV	SETMAR,missense_variant,p.Gln138Pro,ENST00000358065,;SETMAR,missense_variant,p.Gln138Pro,ENST00000430981,;SETMAR,missense_variant,p.Gln138Pro,ENST00000425863,;SETMAR,intron_variant,,ENST00000358950,;SUMF1,intron_variant,,ENST00000534863,;SETMAR,intron_variant,,ENST00000490691,;SETMAR,downstream_gene_variant,,ENST00000462115,;SETMAR,missense_variant,p.Gln138Pro,ENST00000413809,;SUMF1,intron_variant,,ENST00000448413,;SETMAR,intron_variant,,ENST00000425046,;	480	70	93	SUCCESS
NBEAL2	23218	.	GRCh37	3	47044767	47044767	+	synonymous_variant	Silent	SNP	C	C	T	rs201985571	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	88	0	ENST00000450053.3:c.5688C>T	p.Leu1896=	p.L1896=	ENST00000450053	NM_015175.2	1896	ctC/ctT	0	T:0	.	.	.	.	T	L	protein_coding	YES	CCDS46817.1	5688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCGGCGA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	T:0.0001	ENSP00000415034	.	35/54	.	.	.	.	.	.	.	.	rs201985571	35/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,synonymous_variant,p.%3D,ENST00000450053,;NBEAL2,synonymous_variant,p.%3D,ENST00000292309,;NBEAL2,synonymous_variant,p.%3D,ENST00000416683,;NBEAL2,synonymous_variant,p.%3D,ENST00000383740,;NBEAL2,synonymous_variant,p.%3D,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000469349,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000477412,;	5867	88	110	SUCCESS
GLYCTK-AS1	100874110	.	GRCh37	3	52328447	52328447	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	38	0	ENST00000467187.1:n.212-1270C>A		p.*71*	ENST00000467187				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2852.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGCTCTG	NONE	.	955	.	.	.	ENSP00000389175	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436784	Transcript	.	.	ENSG00000168237	24247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLCTK_HUMAN	GLYCTK	HGNC	.	.	UPI000004FD5A	SNV	GLYCTK,3_prime_UTR_variant,,ENST00000354773,;GLYCTK,downstream_gene_variant,,ENST00000473032,;GLYCTK,downstream_gene_variant,,ENST00000471180,;GLYCTK,downstream_gene_variant,,ENST00000477382,;GLYCTK,downstream_gene_variant,,ENST00000461183,;GLYCTK,downstream_gene_variant,,ENST00000436784,;GLYCTK,downstream_gene_variant,,ENST00000305690,;MIR135A1,upstream_gene_variant,,ENST00000385191,;GLYCTK-AS1,intron_variant,,ENST00000493616,;GLYCTK-AS1,downstream_gene_variant,,ENST00000472761,;GLYCTK-AS1,intron_variant,,ENST00000467187,;GLYCTK,downstream_gene_variant,,ENST00000486393,;GLYCTK,downstream_gene_variant,,ENST00000489173,;GLYCTK,downstream_gene_variant,,ENST00000473583,;	.	38	37	SUCCESS
MITF	4286	.	GRCh37	3	69788758	69788758	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	64	0	ENST00000352241.4:c.10G>T	p.Glu4Ter	p.E4*	ENST00000352241	NM_198159.2	4	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43106.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCGAATCG	NONE	.	.	.	.	.	ENSP00000295600	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000352241	Transcript	.	.	ENSG00000187098	7105	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MITF_HUMAN	MITF	HGNC	C9K0S7_HUMAN	.	UPI000002ADF8	SNV	MITF,stop_gained,p.Glu4Ter,ENST00000352241,;MITF,stop_gained,p.Glu4Ter,ENST00000448226,;MITF,non_coding_transcript_exon_variant,,ENST00000461511,;MITF,non_coding_transcript_exon_variant,,ENST00000495741,;	173	64	81	SUCCESS
GRM7	2917	.	GRCh37	3	7348194	7348194	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	62	150	2	ENST00000357716.4:c.888T>A	p.Leu296=	p.L296=	ENST00000357716	NM_000844.3	296	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43042.1	888	RADIA|VARSCANS	.	ATCCTTGCAGC	NONE	.	.	hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000350348	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,synonymous_variant,p.%3D,ENST00000402647,;GRM7,synonymous_variant,p.%3D,ENST00000486284,;GRM7,synonymous_variant,p.%3D,ENST00000448328,;GRM7,synonymous_variant,p.%3D,ENST00000389336,;GRM7,synonymous_variant,p.%3D,ENST00000357716,;GRM7,synonymous_variant,p.%3D,ENST00000403881,;GRM7,synonymous_variant,p.%3D,ENST00000389335,;GRM7,synonymous_variant,p.%3D,ENST00000467425,;GRM7,synonymous_variant,p.%3D,ENST00000440923,;GRM7,3_prime_UTR_variant,,ENST00000435689,;GRM7,non_coding_transcript_exon_variant,,ENST00000461677,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	1162	152	167	SUCCESS
ARL13B	200894	.	GRCh37	3	93755562	93755562	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	470	153	314	0	ENST00000394222.3:c.655del	p.Arg219GlufsTer42	p.R219Efs*42	ENST00000394222	NM_001174150.1	218	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS2925.1	653	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAAGAAAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11711:SF102,hmmpanther:PTHR11711	.	.	ENSP00000377769	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000394222	Transcript	.	.	ENSG00000169379	25419	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AR13B_HUMAN	ARL13B	HGNC	B4DRI8_HUMAN	.	UPI00001B94DF	deletion	ARL13B,frameshift_variant,p.Arg116GlufsTer42,ENST00000535334,;ARL13B,frameshift_variant,p.Arg219GlufsTer42,ENST00000471138,;ARL13B,frameshift_variant,p.Arg219GlufsTer42,ENST00000394222,;ARL13B,frameshift_variant,p.Arg112GlufsTer42,ENST00000303097,;ARL13B,5_prime_UTR_variant,,ENST00000539730,;ARL13B,non_coding_transcript_exon_variant,,ENST00000486562,;ARL13B,3_prime_UTR_variant,,ENST00000335438,;ARL13B,3_prime_UTR_variant,,ENST00000460371,;	928	314	623	SUCCESS
FABP2	2169	.	GRCh37	4	120241841	120241841	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	33	0	ENST00000274024.3:c.224A>T	p.Asp75Val	p.D75V	ENST00000274024	NM_000134.3	75	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3712.1	224	RADIA|MUTECT|MUSE	.	TTCCGTCTGCT	BUFFER|p.G76E|c.227G>A|3	.	.	hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF65,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178	.	.	ENSP00000274024	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000274024	Transcript	.	.	ENSG00000145384	3556	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	FABPI_HUMAN	FABP2	HGNC	.	.	UPI000013D9E7	SNV	FABP2,missense_variant,p.Asp75Val,ENST00000274024,;	512	33	33	SUCCESS
INPP4B	8821	.	GRCh37	4	143324209	143324209	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	61	0	ENST00000262992.4:c.256-2A>T		p.X86_splice	ENST00000262992	NM_001101669.1	86		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3757.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTGTAAC	NONE	.	.	.	.	.	ENSP00000425487	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	HIGH	7/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,splice_acceptor_variant,,ENST00000506217,;INPP4B,splice_acceptor_variant,,ENST00000508116,;INPP4B,splice_acceptor_variant,,ENST00000509777,;INPP4B,splice_acceptor_variant,,ENST00000262992,;INPP4B,splice_acceptor_variant,,ENST00000513000,;INPP4B,splice_acceptor_variant,,ENST00000308502,;INPP4B,splice_acceptor_variant,,ENST00000510812,;INPP4B,downstream_gene_variant,,ENST00000506788,;INPP4B,downstream_gene_variant,,ENST00000506517,;INPP4B,splice_acceptor_variant,,ENST00000512630,;INPP4B,splice_acceptor_variant,,ENST00000507462,;INPP4B,upstream_gene_variant,,ENST00000506297,;INPP4B,downstream_gene_variant,,ENST00000506000,;	.	61	78	SUCCESS
ENPP6	133121	.	GRCh37	4	185138927	185138927	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	41	134	0	ENST00000296741.2:c.46C>T	p.Leu16=	p.L16=	ENST00000296741	NM_153343.3	16	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3834.1	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGGCCCA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10151:SF66,hmmpanther:PTHR10151,Gene3D:3.40.720.10	.	.	ENSP00000296741	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000296741	Transcript	.	.	ENSG00000164303	23409	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENPP6_HUMAN	ENPP6	HGNC	D6R9P1_HUMAN	.	UPI0000073C89	SNV	ENPP6,synonymous_variant,p.%3D,ENST00000296741,;ENPP6,intron_variant,,ENST00000512353,;ENPP6,upstream_gene_variant,,ENST00000505644,;	188	134	155	SUCCESS
GABRG1	2565	.	GRCh37	4	46067562	46067562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	58	0	ENST00000295452.4:c.361G>T	p.Asp121Tyr	p.D121Y	ENST00000295452	NM_173536.3	121	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS3470.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTCAAACC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000295452	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Asp121Tyr,ENST00000295452,;	529	58	68	SUCCESS
FRYL	285527	.	GRCh37	4	48542570	48542571	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	144	43	122	0	ENST00000358350.4:c.6094_6095delinsT	p.His2032PhefsTer20	p.H2032Ffs*20	ENST00000358350	NM_015030.1	2032	CAt/Tt	0	.	.	.	.	.	A	H/X	protein_coding	YES	CCDS43227.1	6094-6095	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGCAAATGGATAA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,Pfam_domain:PF14225,Gene3D:1.25.10.10,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	46/64	.	.	.	.	.	.	.	.	.	46/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	substitution	FRYL,frameshift_variant,p.His902PhefsTer20,ENST00000514617,;FRYL,frameshift_variant,p.His2032PhefsTer20,ENST00000358350,;FRYL,frameshift_variant,p.His2032PhefsTer20,ENST00000503238,;FRYL,frameshift_variant,p.His2032PhefsTer20,ENST00000537810,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,upstream_gene_variant,,ENST00000512297,;FRYL,non_coding_transcript_exon_variant,,ENST00000513401,;	6699-6700	122	187	SUCCESS
PAICS	10606	.	GRCh37	4	57325638	57325638	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	72	140	0	ENST00000264221.2:c.1212A>T	p.Ala404=	p.A404=	ENST00000264221	NM_006452.3	404	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47060.1	1233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCAAGCAT	NONE	.	.	hmmpanther:PTHR11609:SF3,hmmpanther:PTHR11609,TIGRFAM_domain:TIGR01162,Gene3D:3.40.50.7700,Pfam_domain:PF00731,SMART_domains:SM01001,Superfamily_domains:SSF52255	.	.	ENSP00000382595	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000399688	Transcript	.	.	ENSG00000128050	8587	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUR6_HUMAN	PAICS	HGNC	D6RF62_HUMAN	.	UPI0000E9B4A6	SNV	PAICS,synonymous_variant,p.%3D,ENST00000264221,;PAICS,synonymous_variant,p.%3D,ENST00000512576,;PAICS,synonymous_variant,p.%3D,ENST00000399688,;PAICS,synonymous_variant,p.%3D,ENST00000514888,;PAICS,synonymous_variant,p.%3D,ENST00000505164,;RP11-393M11.2,upstream_gene_variant,,ENST00000602434,;	1408	140	215	SUCCESS
UGT2B7	7364	.	GRCh37	4	69962793	69962793	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	52	101	0	ENST00000305231.7:c.555A>G	p.Gly185=	p.G185=	ENST00000305231	NM_001074.2	185	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS3526.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGAGGATT	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000304811	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305231	Transcript	.	.	ENSG00000171234	12554	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD2B7_HUMAN	UGT2B7	HGNC	Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN	.	UPI00000015EC	SNV	UGT2B7,synonymous_variant,p.%3D,ENST00000305231,;UGT2B7,synonymous_variant,p.%3D,ENST00000508661,;UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	601	101	138	SUCCESS
CXCL6	6372	.	GRCh37	4	74702771	74702771	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs999888344	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	85	0	ENST00000226317.5:c.200A>T	p.Gln67Leu	p.Q67L	ENST00000226317	NM_002993.3	67	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS3560.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCAGGTGT	NONE	.	.	hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF12,PROSITE_patterns:PS00471,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00437,Prints_domain:PR00436	.	.	ENSP00000226317	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000226317	Transcript	.	.	ENSG00000124875	10643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	CXCL6_HUMAN	CXCL6	HGNC	.	.	UPI0000136772	SNV	CXCL6,missense_variant,p.Gln67Leu,ENST00000515050,;CXCL6,missense_variant,p.Gln67Leu,ENST00000226317,;CXCL6,upstream_gene_variant,,ENST00000503446,;	454	85	127	SUCCESS
NKD2	85409	.	GRCh37	5	1034416	1034416	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	79	0	ENST00000296849.5:c.397T>A	p.Phe133Ile	p.F133I	ENST00000296849	NM_033120.3	133	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS3859.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTTTGAC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR22611,hmmpanther:PTHR22611:SF1,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000296849	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000296849	Transcript	.	.	ENSG00000145506	17046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.426)	.	deleterious(0)	.	NKD2_HUMAN	NKD2	HGNC	.	.	UPI0000073E19	SNV	NKD2,missense_variant,p.Phe133Ile,ENST00000537972,;NKD2,missense_variant,p.Phe133Ile,ENST00000274150,;NKD2,missense_variant,p.Phe133Ile,ENST00000296849,;NKD2,upstream_gene_variant,,ENST00000382730,;NKD2,non_coding_transcript_exon_variant,,ENST00000519933,;NKD2,upstream_gene_variant,,ENST00000523688,;NKD2,upstream_gene_variant,,ENST00000513296,;	626	79	87	SUCCESS
CTNND2	1501	.	GRCh37	5	11098730	11098730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	59	0	ENST00000304623.8:c.2594G>T	p.Gly865Val	p.G865V	ENST00000304623	NM_001332.2	865	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3881.1	2594	MUTECT|MUSE	.	CCGCCCCTTCC	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,Low_complexity_(Seg):seg	.	.	ENSP00000307134	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Gly865Val,ENST00000304623,;CTNND2,missense_variant,p.Gly528Val,ENST00000503622,;CTNND2,missense_variant,p.Gly774Val,ENST00000511377,;CTNND2,missense_variant,p.Gly432Val,ENST00000458100,;CTNND2,intron_variant,,ENST00000359640,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Gly619Val,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2784	59	82	SUCCESS
TERT	7015	.	GRCh37	5	1266629	1266629	+	synonymous_variant	Silent	SNP	A	A	G	rs1579558147	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	52	115	0	ENST00000310581.5:c.2604T>C	p.Asp868=	p.D868=	ENST00000310581	NM_198253.2	868	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3861.2	2604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCATCCAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50878,hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066,Pfam_domain:PF00078,Superfamily_domains:SSF56672,Prints_domain:PR01365	.	.	ENSP00000309572	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,stop_lost,p.Ter808ArgextTer24,ENST00000296820,;TERT,stop_lost,p.Ter808ArgextTer?,ENST00000508104,;TERT,synonymous_variant,p.%3D,ENST00000310581,;TERT,synonymous_variant,p.%3D,ENST00000334602,;TERT,stop_lost,p.Ter796ArgextTer106,ENST00000460137,;TERT,non_coding_transcript_exon_variant,,ENST00000503656,;TERT,non_coding_transcript_exon_variant,,ENST00000484238,;	2662	115	134	SUCCESS
PDLIM4	8572	.	GRCh37	5	131607059	131607059	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	42	0	ENST00000253754.3:c.570G>T	p.Val190=	p.V190=	ENST00000253754	NM_003687.3	190	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4152.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGTACAG	NONE	.	.	hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF6	.	.	ENSP00000253754	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000253754	Transcript	.	.	ENSG00000131435	16501	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDLI4_HUMAN	PDLIM4	HGNC	C9J542_HUMAN	.	UPI00001338F6	SNV	PDLIM4,synonymous_variant,p.%3D,ENST00000253754,;PDLIM4,synonymous_variant,p.%3D,ENST00000379018,;P4HA2,intron_variant,,ENST00000431054,;P4HA2,intron_variant,,ENST00000439698,;P4HA2,intron_variant,,ENST00000416053,;PDLIM4,downstream_gene_variant,,ENST00000418373,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000484620,;P4HA2,intron_variant,,ENST00000471826,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000462597,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000474421,;PDLIM4,downstream_gene_variant,,ENST00000463615,;	634	42	56	SUCCESS
KDM3B	51780	.	GRCh37	5	137753199	137753199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	4	71	0	ENST00000314358.5:c.3335A>T	p.His1112Leu	p.H1112L	ENST00000314358	NM_016604.3	1112	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS34242.1	3335	MUTECT|MUSE	.	GGTACATGCTG	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.His144Leu,ENST00000542866,;KDM3B,missense_variant,p.His768Leu,ENST00000394866,;KDM3B,missense_variant,p.His1112Leu,ENST00000314358,;KDM3B,upstream_gene_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;	3535	71	100	SUCCESS
PCDHA12	56137	.	GRCh37	5	140255480	140255480	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	69	155	0	ENST00000398631.2:c.423T>A	p.Pro141=	p.P141=	ENST00000398631	NM_018903.2	141	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47285.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCTGTTTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,synonymous_variant,p.%3D,ENST00000398631,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	423	155	204	SUCCESS
PCDHA13	56136	.	GRCh37	5	140262777	140262777	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	49	122	0	ENST00000289272.2:c.924A>T	p.Leu308=	p.L308=	ENST00000289272	NM_018904.2	308	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4240.1	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTAGATTT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,synonymous_variant,p.%3D,ENST00000289272,;PCDHA13,synonymous_variant,p.%3D,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	924	122	138	SUCCESS
PCDHAC2	56134	.	GRCh37	5	140348697	140348697	+	synonymous_variant	Silent	SNP	A	A	G	rs781784282	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	94	0	ENST00000289269.5:c.2346A>G	p.Arg782=	p.R782=	ENST00000289269	NM_018899.5	782	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS4242.1	2346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGAGGGAA	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10	.	.	ENSP00000289269	.	1/4	.	.	.	.	.	.	.	.	rs781784282	1/4	PASS	ENST00000289269	Transcript	.	.	ENSG00000243232	8677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC2_HUMAN	PCDHAC2	HGNC	.	.	UPI0000127786	SNV	PCDHAC2,synonymous_variant,p.%3D,ENST00000289269,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	2878	94	138	SUCCESS
PCDH12	51294	.	GRCh37	5	141334585	141334585	+	synonymous_variant	Silent	SNP	G	G	A	rs375930414	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	87	0	ENST00000231484.3:c.2832C>T	p.Ala944=	p.A944=	ENST00000231484	NM_016580.3	944	gcC/gcT	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS4269.1	2832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGGCGAA	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000231484	A:0	1/4	.	.	.	.	.	.	.	.	rs375930414	1/4	PASS	ENST00000231484	Transcript	.	A:0.0002	ENSG00000113555	8657	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,synonymous_variant,p.%3D,ENST00000231484,;RNF14,upstream_gene_variant,,ENST00000506822,;RNF14,upstream_gene_variant,,ENST00000511961,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	4043	87	73	SUCCESS
DPYSL3	1809	.	GRCh37	5	146780396	146780396	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs751007269	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	38	1	ENST00000398514.3:c.969C>A	p.Ser323Arg	p.S323R	ENST00000398514	NM_001387.2	323	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS56387.1	1311	SOMATICSNIPER|MUTECT|VARSCANS	.	TCCCCGCTGGC	NONE	.	.	Superfamily_domains:SSF51556,Pfam_domain:PF01979,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR02033,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF57	.	.	ENSP00000343690	.	10/14	.	.	.	.	.	.	.	.	rs751007269,COSM1063911	10/14	PASS	ENST00000343218	Transcript	.	.	ENSG00000113657	3015	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.014)	.	tolerated(0.23)	0,1	DPYL3_HUMAN	DPYSL3	HGNC	F5GWI3_HUMAN	.	UPI000020CF0E	SNV	DPYSL3,missense_variant,p.Ser323Arg,ENST00000398514,;DPYSL3,missense_variant,p.Ser437Arg,ENST00000343218,;DPYSL3,missense_variant,p.Ser22Arg,ENST00000520473,;DPYSL3,intron_variant,,ENST00000534907,;CTB-108O6.2,upstream_gene_variant,,ENST00000607270,;DPYSL3,intron_variant,,ENST00000507309,;DPYSL3,intron_variant,,ENST00000523458,;DPYSL3,downstream_gene_variant,,ENST00000508042,;	1509	39	54	SUCCESS
GABRG2	2566	.	GRCh37	5	161580332	161580332	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	37	109	0	ENST00000361925.4:c.1362C>G	p.Cys454Trp	p.C454W	ENST00000361925		454	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS47333.1	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCCTGTT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00253,Superfamily_domains:SSF90112,Gene3D:1.20.58.390,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0.05)	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,missense_variant,p.Cys359Trp,ENST00000393933,;GABRG2,missense_variant,p.Cys454Trp,ENST00000361925,;GABRG2,missense_variant,p.Cys462Trp,ENST00000356592,;GABRG2,missense_variant,p.Cys502Trp,ENST00000414552,;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	1731	109	140	SUCCESS
ITGA1	3672	.	GRCh37	5	52235677	52235677	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1364612253	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	74	171	0	ENST00000282588.6:c.3188A>G	p.Asn1063Ser	p.N1063S	ENST00000282588	NM_181501.1	1063	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3955.1	3188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAATACAT	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000282588	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000282588	Transcript	.	.	ENSG00000213949	6134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.89)	.	ITA1_HUMAN	ITGA1	HGNC	.	.	UPI00001A95E8	SNV	ITGA1,missense_variant,p.Asn1063Ser,ENST00000282588,;CTD-2175A23.1,intron_variant,,ENST00000505701,;CTD-2175A23.1,intron_variant,,ENST00000503559,;ITGA1,non_coding_transcript_exon_variant,,ENST00000506275,;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	3646	171	250	SUCCESS
ESM1	11082	.	GRCh37	5	54277844	54277844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	44	94	0	ENST00000381405.4:c.432C>A	p.Asn144Lys	p.N144K	ENST00000381405	NM_007036.4	144	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS3963.1	432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTGTTGGA	NONE	.	.	hmmpanther:PTHR15428	.	.	ENSP00000370812	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000381405	Transcript	.	.	ENSG00000164283	3466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.3)	.	ESM1_HUMAN	ESM1	HGNC	M0R154_HUMAN	.	UPI000012A1BA	SNV	ESM1,missense_variant,p.Asn144Lys,ENST00000381405,;ESM1,intron_variant,,ENST00000381403,;ESM1,downstream_gene_variant,,ENST00000601836,;ESM1,intron_variant,,ENST00000598310,;	578	94	128	SUCCESS
KIAA0947	0	.	GRCh37	5	5462373	5462374	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CA	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	116	31	95	0	ENST00000296564.7:c.2927_2928dup	p.Val977GlnfsTer33	p.V977Qfs*33	ENST00000296564	NM_015325.2	976	gca/gCAca	0	.	.	.	.	.	CA	A/AX	protein_coding	YES	CCDS47187.1	2926-2927	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCTGCAGTG	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	insertion	KIAA0947,frameshift_variant,p.Val977GlnfsTer33,ENST00000296564,;	3148-3149	95	147	SUCCESS
KATNBL1P6	729176	.	GRCh37	6	147124576	147124576	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	69	0	ENST00000562413.2:n.385C>T		p.*129*	ENST00000562413				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGGGGC	NONE	.	.	.	.	.	ENSP00000381036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODIFIER	35/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,intron_variant,,ENST00000367493,;ADGB,intron_variant,,ENST00000367490,;ADGB,intron_variant,,ENST00000367489,;ADGB,intron_variant,,ENST00000397944,;ADGB,intron_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000562413,;ADGB,intron_variant,,ENST00000493950,;ADGB,intron_variant,,ENST00000480328,;KATNBL1P6,non_coding_transcript_exon_variant,,ENST00000453433,;	.	69	101	SUCCESS
RAET1E	135250	.	GRCh37	6	150212108	150212108	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	25	0	ENST00000357183.4:c.-71A>G		p.*24*	ENST00000357183	NM_139165.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5221.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTTATCCA	NONE	.	.	.	.	.	ENSP00000349709	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000357183	Transcript	.	.	ENSG00000164520	16793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N2DL4_HUMAN	RAET1E	HGNC	I2GUA6_HUMAN,E9PKJ6_HUMAN	.	UPI0000071E77	SNV	RAET1E,5_prime_UTR_variant,,ENST00000367363,;RAET1E,5_prime_UTR_variant,,ENST00000531073,;RAET1E,5_prime_UTR_variant,,ENST00000532335,;RAET1E,5_prime_UTR_variant,,ENST00000357183,;RAET1E,upstream_gene_variant,,ENST00000529948,;RAET1E-AS1,intron_variant,,ENST00000446954,;RP11-244K5.8,intron_variant,,ENST00000606915,;RAET1E-AS1,intron_variant,,ENST00000605899,;RAET1E,downstream_gene_variant,,ENST00000524905,;RAET1E,upstream_gene_variant,,ENST00000392270,;	63	25	59	SUCCESS
ARID1B	57492	.	GRCh37	6	157100005	157100005	+	synonymous_variant	Silent	SNP	C	C	A	rs184815562	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	61	0	ENST00000346085.5:c.942C>A	p.Gly314=	p.G314=	ENST00000346085	NM_020732.3	314	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55072.1	942	RADIA|MUTECT|MUSE	likely_benign	GGCGGCGGAGG	SITE|p.G314G|c.942C>A|3,SITE|p.G256G|c.768C>A|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	.	.	ENSP00000344546	.	1/20	.	.	.	.	.	.	.	.	rs184815562,COSM3781610,COSM3781609	1/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	0,1,1	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,synonymous_variant,p.%3D,ENST00000367148,;ARID1B,synonymous_variant,p.%3D,ENST00000346085,;ARID1B,synonymous_variant,p.%3D,ENST00000350026,;ARID1B,synonymous_variant,p.%3D,ENST00000275248,;ARID1B,upstream_gene_variant,,ENST00000414678,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;RP11-230C9.2,upstream_gene_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;	943	62	50	SUCCESS
PHF1	5252	.	GRCh37	6	33382581	33382581	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201507218	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	56	0	ENST00000374516.3:c.1024C>T	p.Pro342Ser	p.P342S	ENST00000374516	NM_024165.2	342	Cct/Tct	0	G:0	G:0	.	G:0	.	T	P/S	protein_coding	YES	CCDS4777.1	1024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCCTACT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12628,hmmpanther:PTHR12628:SF11	G:0	G:0.0001	ENSP00000363640	G:0.001	11/15	.	.	.	.	.	.	.	.	rs201507218	11/15	PASS	ENST00000374516	Transcript	.	G:0.0002	ENSG00000112511	8919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	G:0	tolerated(0.16)	.	PHF1_HUMAN	PHF1	HGNC	A2AB23_HUMAN,A2AB22_HUMAN	.	UPI0000457421	SNV	PHF1,missense_variant,p.Pro342Ser,ENST00000374516,;PHF1,missense_variant,p.Pro342Ser,ENST00000374512,;CUTA,downstream_gene_variant,,ENST00000607266,;CUTA,downstream_gene_variant,,ENST00000494751,;CUTA,downstream_gene_variant,,ENST00000374500,;CUTA,downstream_gene_variant,,ENST00000488034,;PHF1,upstream_gene_variant,,ENST00000427826,;PHF1,downstream_gene_variant,,ENST00000427004,;KIFC1,downstream_gene_variant,,ENST00000428849,;CUTA,downstream_gene_variant,,ENST00000374496,;CUTA,downstream_gene_variant,,ENST00000440279,;CUTA,downstream_gene_variant,,ENST00000488478,;PHF1,downstream_gene_variant,,ENST00000428274,;PHF1,downstream_gene_variant,,ENST00000459809,;CUTA,downstream_gene_variant,,ENST00000492510,;PHF1,missense_variant,p.Pro342Ser,ENST00000487667,;PHF1,missense_variant,p.Pro342Ser,ENST00000495509,;PHF1,non_coding_transcript_exon_variant,,ENST00000486845,;CUTA,downstream_gene_variant,,ENST00000374484,;PHF1,upstream_gene_variant,,ENST00000479029,;CUTA,downstream_gene_variant,,ENST00000462802,;CUTA,downstream_gene_variant,,ENST00000482684,;CUTA,downstream_gene_variant,,ENST00000465956,;CUTA,downstream_gene_variant,,ENST00000479249,;PHF1,downstream_gene_variant,,ENST00000488767,;CUTA,downstream_gene_variant,,ENST00000487637,;	1295	56	67	SUCCESS
IRF4	3662	.	GRCh37	6	393256	393256	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs538907751	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	73	193	0	ENST00000380956.4:c.104G>A	p.Gly35Asp	p.G35D	ENST00000380956	NM_001195286.1	35	gGc/gAc	0	.	C:0.0008	.	C:0	.	A	G/D	protein_coding	YES	CCDS4469.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGCAAGT	NONE	by1000G	.	PROSITE_profiles:PS51507,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6,Gene3D:1.10.10.10,Pfam_domain:PF00605,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267	C:0	.	ENSP00000370343	C:0	2/9	.	.	.	.	.	.	.	.	rs538907751	2/9	PASS	ENST00000380956	Transcript	.	C:0.0002	ENSG00000137265	6119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	C:0	deleterious(0)	.	IRF4_HUMAN	IRF4	HGNC	.	.	UPI000012D88B	SNV	IRF4,missense_variant,p.Gly35Asp,ENST00000380956,;IRF4,intron_variant,,ENST00000495137,;IRF4,intron_variant,,ENST00000468485,;IRF4,upstream_gene_variant,,ENST00000469834,;IRF4,missense_variant,p.Gly35Asp,ENST00000493114,;	230	193	233	SUCCESS
PTCHD4	442213	.	GRCh37	6	47976781	47976781	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs375811446	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	62	0	ENST00000339488.4:c.496C>G	p.Arg166Gly	p.R166G	ENST00000339488	NM_001013732.3	166	Cgg/Ggg	0	A:0	.	.	.	.	C	R/G	protein_coding	YES	CCDS34473.2	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGCTGAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460	.	A:0.0001	ENSP00000341914	.	2/3	.	.	.	.	.	.	.	.	rs375811446,COSM3745275,COSM3745276	2/3	PASS	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.392)	.	tolerated(0.39)	0,1,1	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,missense_variant,p.Arg149Gly,ENST00000543600,;PTCHD4,missense_variant,p.Arg166Gly,ENST00000398738,;PTCHD4,missense_variant,p.Arg166Gly,ENST00000339488,;	530	62	94	SUCCESS
B3GAT2	135152	.	GRCh37	6	71603943	71603943	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	68	168	0	ENST00000230053.6:c.624T>A	p.Pro208=	p.P208=	ENST00000230053	NM_080742.2	208	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4974.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGGCCA	NONE	.	.	hmmpanther:PTHR10896:SF8,hmmpanther:PTHR10896,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448	.	.	ENSP00000230053	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000230053	Transcript	.	.	ENSG00000112309	922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GA2_HUMAN	B3GAT2	HGNC	A8K1V3_HUMAN	.	UPI000012670C	SNV	B3GAT2,synonymous_variant,p.%3D,ENST00000230053,;	1233	168	223	SUCCESS
PHIP	55023	.	GRCh37	6	79679818	79679818	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	87	0	ENST00000275034.4:c.3070G>C	p.Ala1024Pro	p.A1024P	ENST00000275034	NM_017934.5	1024	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS4987.1	3070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCAAGTT	NONE	.	.	hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	.	.	ENSP00000275034	.	26/40	.	.	.	.	.	.	.	.	.	26/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Ala1024Pro,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	3238	87	111	SUCCESS
CBLL1	79872	.	GRCh37	7	107393915	107393915	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs760462656	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	421	13	248	0	ENST00000440859.3:c.241A>T	p.Asn81Tyr	p.N81Y	ENST00000440859	NM_024814.2	81	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS5747.1	241	MUTECT|MUSE	.	TTGCAAATCAG	NONE	.	.	hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF2	.	.	ENSP00000401277	.	3/6	.	.	.	.	.	.	.	.	rs760462656	3/6	PASS	ENST00000440859	Transcript	.	.	ENSG00000105879	21225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.293)	.	deleterious(0.02)	.	HAKAI_HUMAN	CBLL1	HGNC	C9J2P9_HUMAN,B4DDV7_HUMAN	.	UPI000006E5AC	SNV	CBLL1,missense_variant,p.Asn81Tyr,ENST00000415884,;CBLL1,missense_variant,p.Asn80Tyr,ENST00000222597,;CBLL1,missense_variant,p.Asn81Tyr,ENST00000440859,;CBLL1,missense_variant,p.Asn31Tyr,ENST00000420796,;CBLL1,3_prime_UTR_variant,,ENST00000432748,;CBLL1,non_coding_transcript_exon_variant,,ENST00000487517,;CBLL1,non_coding_transcript_exon_variant,,ENST00000493361,;CBLL1,downstream_gene_variant,,ENST00000479443,;	708	248	435	SUCCESS
SLC37A3	84255	.	GRCh37	7	140055481	140055481	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	27	55	0	ENST00000326232.9:c.605A>T	p.Gln202Leu	p.Q202L	ENST00000326232	NM_207113.1	202	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5859.1	605	RADIA|MUTECT|MUSE|VARSCANS	.	CATACTGAAGA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF11,hmmpanther:PTHR11662,Gene3D:1.20.1250.20,Pfam_domain:PF07690,PIRSF_domain:PIRSF002808,Superfamily_domains:SSF103473	.	.	ENSP00000321498	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000326232	Transcript	.	.	ENSG00000157800	20651	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.4)	.	SPX3_HUMAN	SLC37A3	HGNC	F8WF28_HUMAN	.	UPI0000141890	SNV	SLC37A3,missense_variant,p.Gln202Leu,ENST00000326232,;SLC37A3,missense_variant,p.Gln202Leu,ENST00000340308,;SLC37A3,missense_variant,p.Gln202Leu,ENST00000447932,;SLC37A3,missense_variant,p.Gln127Leu,ENST00000485861,;SLC37A3,synonymous_variant,p.%3D,ENST00000429996,;SLC37A3,intron_variant,,ENST00000469193,;SLC37A3,upstream_gene_variant,,ENST00000492027,;SLC37A3,upstream_gene_variant,,ENST00000485734,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000473707,;SLC37A3,downstream_gene_variant,,ENST00000461089,;SLC37A3,missense_variant,p.Gln202Leu,ENST00000477571,;SLC37A3,missense_variant,p.Gln130Leu,ENST00000464834,;SLC37A3,missense_variant,p.Gln105Leu,ENST00000484416,;SLC37A3,3_prime_UTR_variant,,ENST00000490760,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000460560,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000464865,;SLC37A3,upstream_gene_variant,,ENST00000487319,;	809	55	146	SUCCESS
UBE3C	9690	.	GRCh37	7	156932031	156932031	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	30	0	ENST00000348165.5:c.65A>G	p.Lys22Arg	p.K22R	ENST00000348165	NM_014671.2	22	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS34789.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAAGGTGA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85	.	.	ENSP00000309198	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000348165	Transcript	.	.	ENSG00000009335	16803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.38)	.	UBE3C_HUMAN	UBE3C	HGNC	.	.	UPI000020E72A	SNV	UBE3C,missense_variant,p.Lys22Arg,ENST00000389103,;UBE3C,missense_variant,p.Lys22Arg,ENST00000348165,;UBE3C,missense_variant,p.Lys20Arg,ENST00000430750,;	425	30	39	SUCCESS
BZW2	28969	.	GRCh37	7	16720989	16720989	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	66	0	ENST00000258761.3:c.299C>A	p.Ser100Ter	p.S100*	ENST00000258761	NM_014038.2	100	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS5362.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTCAGCAA	NONE	.	.	hmmpanther:PTHR14208,hmmpanther:PTHR14208:SF1	.	.	ENSP00000397249	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000433922	Transcript	.	.	ENSG00000136261	18808	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BZW2_HUMAN	BZW2	HGNC	Q75MG1_HUMAN,E7ETZ4_HUMAN,E7EMS9_HUMAN,C9JF98_HUMAN,B5MCH7_HUMAN,B5MCE7_HUMAN	.	UPI000003B445	SNV	BZW2,stop_gained,p.Ser100Ter,ENST00000433922,;BZW2,stop_gained,p.Ser100Ter,ENST00000415365,;BZW2,stop_gained,p.Ser100Ter,ENST00000430000,;BZW2,stop_gained,p.Ser100Ter,ENST00000438834,;BZW2,stop_gained,p.Ser100Ter,ENST00000258761,;BZW2,stop_gained,p.Ser100Ter,ENST00000446596,;BZW2,stop_gained,p.Ser24Ter,ENST00000405202,;BZW2,stop_gained,p.Ser100Ter,ENST00000452975,;BZW2,non_coding_transcript_exon_variant,,ENST00000432311,;BZW2,stop_gained,p.Ser100Ter,ENST00000437745,;BZW2,stop_gained,p.Ser100Ter,ENST00000436868,;BZW2,non_coding_transcript_exon_variant,,ENST00000480517,;	477	66	96	SUCCESS
PDE1C	5137	.	GRCh37	7	31887658	31887658	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	84	0	ENST00000321453.7:c.904T>G	p.Leu302Val	p.L302V	ENST00000321453	NM_001191059.1	302	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS55100.1	1084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTAAATGGT	NONE	.	.	hmmpanther:PTHR11347:SF32,hmmpanther:PTHR11347,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604,Prints_domain:PR00387	.	.	ENSP00000379496	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Leu302Val,ENST00000396184,;PDE1C,missense_variant,p.Leu302Val,ENST00000396191,;PDE1C,missense_variant,p.Leu362Val,ENST00000396193,;PDE1C,missense_variant,p.Leu302Val,ENST00000321453,;PDE1C,missense_variant,p.Leu302Val,ENST00000396182,;PDE1C,non_coding_transcript_exon_variant,,ENST00000478736,;	1678	84	103	SUCCESS
ZNF733P	643955	.	GRCh37	7	62752210	62752210	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	31	93	0	ENST00000444809.1:n.1259G>T		p.*420*	ENST00000444809				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	ATAAGCTAAAG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000444809	Transcript	.	.	ENSG00000185037	32473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF733P	HGNC	.	.	.	SNV	ZNF733P,non_coding_transcript_exon_variant,,ENST00000331425,;ZNF733P,non_coding_transcript_exon_variant,,ENST00000444809,;	1259	93	171	SUCCESS
ZNF679	168417	.	GRCh37	7	63726440	63726440	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	243	76	157	0	ENST00000255746.4:c.429A>T	p.Glu143Asp	p.E143D	ENST00000255746	NM_001159524.1	143	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47592.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAAGTTAA	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91	.	.	ENSP00000416809	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421025	Transcript	.	.	ENSG00000197123	28650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.12)	.	ZN679_HUMAN	ZNF679	HGNC	.	.	UPI000045756A	SNV	ZNF679,missense_variant,p.Glu143Asp,ENST00000255746,;ZNF679,missense_variant,p.Glu143Asp,ENST00000421025,;	698	157	319	SUCCESS
COL28A1	340267	.	GRCh37	7	7412740	7412740	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	32	86	0	ENST00000399429.3:c.2797G>C	p.Gly933Arg	p.G933R	ENST00000399429	NM_001037763.2	933	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS43553.1	2797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCTATCA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000382356	.	32/35	.	.	.	.	.	.	.	.	COSM1452045	32/35	PASS	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,missense_variant,p.Gly933Arg,ENST00000399429,;COL28A1,upstream_gene_variant,,ENST00000430711,;	2938	86	143	SUCCESS
SEMA3A	10371	.	GRCh37	7	83610774	83610774	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	8	83	0	ENST00000265362.4:c.1515A>G	p.Ser505=	p.S505=	ENST00000265362	NM_006080.2	505	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS5599.1	1515	MUTECT|MUSE	.	GCCGTTGAACC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1830	83	189	SUCCESS
KIAA1324L	0	.	GRCh37	7	86574266	86574266	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	291	107	243	0	ENST00000450689.2:c.603T>A	p.Tyr201Ter	p.Y201*	ENST00000450689	NM_001142749.2	201	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS47632.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACATAGCC	NONE	.	.	hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	.	.	ENSP00000413445	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,stop_gained,p.Tyr87Ter,ENST00000425689,;KIAA1324L,stop_gained,p.Tyr201Ter,ENST00000444627,;KIAA1324L,stop_gained,p.Tyr162Ter,ENST00000423294,;KIAA1324L,stop_gained,p.Tyr201Ter,ENST00000450689,;KIAA1324L,stop_gained,p.Tyr87Ter,ENST00000398276,;KIAA1324L,stop_gained,p.Tyr34Ter,ENST00000416314,;KIAA1324L,upstream_gene_variant,,ENST00000297222,;KIAA1324L,stop_gained,p.Tyr33Ter,ENST00000394714,;	789	243	398	SUCCESS
NXPH1	30010	.	GRCh37	7	8791265	8791265	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	301	15	157	0	ENST00000405863.1:c.682T>A	p.Ser228Thr	p.S228T	ENST00000405863	NM_152745.2	228	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS47540.1	682	MUTECT|MUSE	.	ATGTATCCTGG	NONE	.	.	hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000384551	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000405863	Transcript	.	.	ENSG00000122584	20693	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.557)	.	tolerated(0.25)	.	NXPH1_HUMAN	NXPH1	HGNC	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN	.	UPI000000DC02	SNV	NXPH1,missense_variant,p.Ser111Thr,ENST00000602349,;NXPH1,missense_variant,p.Ser228Thr,ENST00000405863,;NXPH1,downstream_gene_variant,,ENST00000429542,;NXPH1,downstream_gene_variant,,ENST00000438764,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;	1593	157	316	SUCCESS
SGCE	8910	.	GRCh37	7	94259029	94259029	+	splice_donor_variant	Splice_Site	SNP	A	A	G	.	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	229	216	240	0	ENST00000265735.7:c.232+2T>C		p.X78_splice	ENST00000265735	NM_003919.2	78		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47643.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATACCAGG	NONE	.	.	.	.	.	ENSP00000398930	.	.	.	.	.	.	.	.	.	.	CS062103,SGCE:c.232+2T>C	.	PASS	ENST00000445866	Transcript	.	.	ENSG00000127990	10808	.	.	HIGH	2/11	PRIMARY	.	.	.	.	5	1,0	.	.	.	.	.	.	.	SGCE	HGNC	G5E9K6_HUMAN	.	UPI0000D4E987	SNV	SGCE,splice_donor_variant,,ENST00000447873,;SGCE,splice_donor_variant,,ENST00000415788,;SGCE,splice_donor_variant,,ENST00000445866,;SGCE,splice_donor_variant,,ENST00000265735,;SGCE,splice_donor_variant,,ENST00000428696,;SGCE,intron_variant,,ENST00000437425,;SGCE,splice_donor_variant,,ENST00000450385,;SGCE,splice_donor_variant,,ENST00000425444,;	.	240	446	SUCCESS
LMTK2	22853	.	GRCh37	7	97770825	97770825	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	25	88	0	ENST00000297293.5:c.348A>T	p.Pro116=	p.P116=	ENST00000297293	NM_014916.3	116	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5654.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCAGCTCC	NONE	.	.	hmmpanther:PTHR24416:SF265,hmmpanther:PTHR24416	.	.	ENSP00000297293	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000297293	Transcript	.	.	ENSG00000164715	17880	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMTK2_HUMAN	LMTK2	HGNC	.	.	UPI000014F277	SNV	LMTK2,synonymous_variant,p.%3D,ENST00000297293,;LMTK2,non_coding_transcript_exon_variant,,ENST00000493372,;	641	88	148	SUCCESS
FAM86B2	653333	.	GRCh37	8	12285148	12285148	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	11	0	ENST00000262365.4:c.892+18C>A		p.*298*	ENST00000262365	NM_001137610.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59092.1	.	RADIA|MUTECT	.	CCCGGGTGGGC	NONE	.	.	.	.	.	ENSP00000262365	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262365	Transcript	.	.	ENSG00000145002	32222	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F86B2_HUMAN	FAM86B2	HGNC	.	.	UPI00006C0D80	SNV	FAM86B2,missense_variant,p.Pro76Thr,ENST00000393715,;FAM86B2,intron_variant,,ENST00000262365,;FAM86B2,intron_variant,,ENST00000351291,;FAM86B2,intron_variant,,ENST00000527331,;FAM86B2,intron_variant,,ENST00000309608,;FAM86B2,downstream_gene_variant,,ENST00000532480,;AC087203.1,downstream_gene_variant,,ENST00000580058,;ALG1L12P,downstream_gene_variant,,ENST00000515046,;	.	11	10	SUCCESS
PLEC	5339	.	GRCh37	8	145001727	145001727	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1416611970	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	21	0	ENST00000322810.4:c.4018G>A	p.Glu1340Lys	p.E1340K	ENST00000322810	NM_201380.2	1340	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43772.1	4018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCGAGCT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	.	.	ENSP00000323856	.	27/32	.	.	.	.	.	.	.	.	.	27/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Glu1340Lys,ENST00000322810,;PLEC,missense_variant,p.Glu1226Lys,ENST00000527096,;PLEC,missense_variant,p.Glu1203Lys,ENST00000345136,;PLEC,missense_variant,p.Glu1207Lys,ENST00000357649,;PLEC,missense_variant,p.Glu1171Lys,ENST00000398774,;PLEC,missense_variant,p.Glu1203Lys,ENST00000354589,;PLEC,missense_variant,p.Glu1189Lys,ENST00000356346,;PLEC,missense_variant,p.Glu1230Lys,ENST00000436759,;PLEC,missense_variant,p.Glu1181Lys,ENST00000354958,;PLEC,upstream_gene_variant,,ENST00000527303,;PLEC,downstream_gene_variant,,ENST00000528025,;	4188	21	41	SUCCESS
NEFM	4741	.	GRCh37	8	24775019	24775019	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	57	138	0	ENST00000221166.5:c.1651G>C	p.Gly551Arg	p.G551R	ENST00000221166		551	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS6046.1	1651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF19,hmmpanther:PTHR23239	.	.	ENSP00000221166	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000221166	Transcript	.	.	ENSG00000104722	7734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	NFM_HUMAN	NEFM	HGNC	.	.	UPI000013C7A9	SNV	NEFM,missense_variant,p.Gly175Arg,ENST00000433454,;NEFM,missense_variant,p.Gly551Arg,ENST00000518131,;NEFM,missense_variant,p.Gly551Arg,ENST00000221166,;NEFM,missense_variant,p.Gly551Arg,ENST00000437366,;GS1-72M22.1,upstream_gene_variant,,ENST00000607058,;NEFM,intron_variant,,ENST00000521540,;NEFM,downstream_gene_variant,,ENST00000523467,;	2433	138	171	SUCCESS
ST18	9705	.	GRCh37	8	53055540	53055540	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	77	0	ENST00000276480.7:c.2118A>T	p.Pro706=	p.P706=	ENST00000276480	NM_014682.2	706	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6149.1	2118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTTGGTAT	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Pfam_domain:PF08474	.	.	ENSP00000276480	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,synonymous_variant,p.%3D,ENST00000276480,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;	2802	77	106	SUCCESS
STAU2	27067	.	GRCh37	8	74464277	74464277	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	18	152	0	ENST00000524300.1:c.1500G>T	p.Leu500=	p.L500=	ENST00000524300	NM_001164381.1	500	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55247.1	1500	MUTECT|MUSE	.	TATTCCAGTTG	NONE	.	.	.	.	.	ENSP00000428756	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000524300	Transcript	.	.	ENSG00000040341	11371	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	STAU2	HGNC	E5RJN7_HUMAN	.	UPI000013D271	SNV	STAU2,synonymous_variant,p.%3D,ENST00000522695,;STAU2,synonymous_variant,p.%3D,ENST00000524300,;STAU2,synonymous_variant,p.%3D,ENST00000521451,;STAU2,synonymous_variant,p.%3D,ENST00000523558,;STAU2,synonymous_variant,p.%3D,ENST00000355780,;STAU2,synonymous_variant,p.%3D,ENST00000521210,;STAU2,synonymous_variant,p.%3D,ENST00000522509,;STAU2,synonymous_variant,p.%3D,ENST00000517542,;STAU2,synonymous_variant,p.%3D,ENST00000519961,;STAU2,synonymous_variant,p.%3D,ENST00000521727,;STAU2,synonymous_variant,p.%3D,ENST00000523533,;STAU2,downstream_gene_variant,,ENST00000518502,;STAU2,downstream_gene_variant,,ENST00000518767,;STAU2,3_prime_UTR_variant,,ENST00000518981,;	1851	152	221	SUCCESS
DENND1A	57706	.	GRCh37	9	126439003	126439003	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	55	0	ENST00000373624.2:c.368G>T	p.Arg123Ile	p.R123I	ENST00000373624	NM_020946.1	123	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS35133.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTCTTTTT	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000362727	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000373624	Transcript	.	.	ENSG00000119522	29324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.02)	.	DEN1A_HUMAN	DENND1A	HGNC	.	.	UPI00004589D2	SNV	DENND1A,missense_variant,p.Arg91Ile,ENST00000394219,;DENND1A,missense_variant,p.Arg93Ile,ENST00000394215,;DENND1A,missense_variant,p.Arg91Ile,ENST00000373618,;DENND1A,missense_variant,p.Arg123Ile,ENST00000373624,;DENND1A,missense_variant,p.Arg123Ile,ENST00000373620,;DENND1A,intron_variant,,ENST00000473039,;DENND1A,intron_variant,,ENST00000474676,;	570	55	85	SUCCESS
GTF3C5	9328	.	GRCh37	9	135929323	135929323	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	103	0	ENST00000372097.5:c.982A>C	p.Lys328Gln	p.K328Q	ENST00000372097	NM_012087.3	328	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS48050.1	982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGAAACAC	NONE	.	.	hmmpanther:PTHR13230	.	.	ENSP00000361180	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000372108	Transcript	.	.	ENSG00000148308	4668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	tolerated(0.09)	.	TF3C5_HUMAN	GTF3C5	HGNC	Q5T7U0_HUMAN	.	UPI000046FE5A	SNV	GTF3C5,missense_variant,p.Lys319Gln,ENST00000372099,;GTF3C5,missense_variant,p.Lys7Gln,ENST00000435745,;GTF3C5,missense_variant,p.Lys259Gln,ENST00000342018,;GTF3C5,missense_variant,p.Lys203Gln,ENST00000439697,;GTF3C5,missense_variant,p.Lys203Gln,ENST00000372095,;GTF3C5,missense_variant,p.Lys328Gln,ENST00000372108,;GTF3C5,missense_variant,p.Lys328Gln,ENST00000372097,;GTF3C5,downstream_gene_variant,,ENST00000440319,;GTF3C5,non_coding_transcript_exon_variant,,ENST00000461871,;GTF3C5,upstream_gene_variant,,ENST00000489842,;	990	103	125	SUCCESS
RFK	55312	.	GRCh37	9	79002393	79002393	+	synonymous_variant	Silent	SNP	T	T	A	rs188158713	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	32	0	ENST00000376736.1:c.390A>T	p.Leu130=	p.L130=	ENST00000376736	NM_018339.5	130	ctA/ctT	0	.	C:0.0008	.	C:0	.	A	L	protein_coding	YES	CCDS35044.2	390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTAGTCG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22749,Pfam_domain:PF01687,Gene3D:2.40.30.30,SMART_domains:SM00904,Superfamily_domains:SSF82114	C:0	.	ENSP00000365926	C:0	4/4	.	.	.	.	.	.	.	.	rs188158713	4/4	PASS	ENST00000376736	Transcript	.	C:0.0002	ENSG00000135002	30324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	RIFK_HUMAN	RFK	HGNC	.	.	UPI00004A3AC2	SNV	RFK,synonymous_variant,p.%3D,ENST00000376736,;RFK,3_prime_UTR_variant,,ENST00000490113,;RFK,non_coding_transcript_exon_variant,,ENST00000472900,;RFK,non_coding_transcript_exon_variant,,ENST00000476087,;RFK,non_coding_transcript_exon_variant,,ENST00000483155,;RFK,downstream_gene_variant,,ENST00000479197,;	724	32	47	SUCCESS
ATG4A	115201	.	GRCh37	X	107381369	107381369	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	49	115	0	ENST00000372232.3:c.762A>T	p.Leu254Phe	p.L254F	ENST00000372232	NM_052936.3	254	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14538.1	762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTAGGGGC	NONE	.	.	hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF35,Pfam_domain:PF03416,Superfamily_domains:SSF54001	.	.	ENSP00000361306	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000372232	Transcript	.	.	ENSG00000101844	16489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.56)	.	deleterious(0)	.	ATG4A_HUMAN	ATG4A	HGNC	.	.	UPI000000DCAF	SNV	ATG4A,missense_variant,p.Leu230Phe,ENST00000372254,;ATG4A,missense_variant,p.Leu254Phe,ENST00000372232,;ATG4A,missense_variant,p.Leu177Phe,ENST00000457035,;ATG4A,missense_variant,p.Leu227Phe,ENST00000394892,;ATG4A,intron_variant,,ENST00000345734,;ATG4A,intron_variant,,ENST00000545696,;ATG4A,3_prime_UTR_variant,,ENST00000372246,;ATG4A,intron_variant,,ENST00000343524,;	921	115	183	SUCCESS
KIAA1210	57481	.	GRCh37	X	118222586	118222586	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	55	0	ENST00000402510.2:c.2607A>T	p.Ser869=	p.S869=	ENST00000402510	NM_020721.1	869	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS48156.1	2607	MUTECT|MUSE	.	TCCTCTGAGCT	NONE	.	.	hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036	.	.	ENSP00000384670	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,synonymous_variant,p.%3D,ENST00000402510,;	2607	55	48	SUCCESS
MCF2	4168	.	GRCh37	X	138733894	138733894	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	291	282	2	ENST00000519895.1:c.10A>G	p.Ile4Val	p.I4V	ENST00000519895	NM_001171876.1	4	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS55517.1	10	RADIA|SOMATICSNIPER|VARSCANS	.	GGCGATGTCTT	NONE	.	.	SMART_domains:SM00516,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF109,PROSITE_profiles:PS50191	.	.	ENSP00000430276	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000519895	Transcript	.	.	ENSG00000101977	6940	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.927)	.	tolerated(0.37)	.	MCF2_HUMAN	MCF2	HGNC	.	.	UPI0001C33995	SNV	MCF2,missense_variant,p.Ile4Val,ENST00000520602,;MCF2,missense_variant,p.Ile4Val,ENST00000519895,;MCF2,missense_variant,p.Ile4Val,ENST00000414978,;MCF2,missense_variant,p.Ile89Val,ENST00000370578,;	176	284	401	SUCCESS
MOSPD2	158747	.	GRCh37	X	14937917	14937917	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	39	0	ENST00000380492.3:c.1543T>G	p.Leu515Val	p.L515V	ENST00000380492	NM_152581.3	515	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS14162.1	1543	MUTECT|MUSE	.	TCTATTTATTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19993,hmmpanther:PTHR19993:SF1	.	.	ENSP00000369860	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000380492	Transcript	.	.	ENSG00000130150	28381	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.17)	.	MSPD2_HUMAN	MOSPD2	HGNC	.	.	UPI00000735BA	SNV	MOSPD2,missense_variant,p.Leu515Val,ENST00000380492,;MOSPD2,intron_variant,,ENST00000482354,;MOSPD2,downstream_gene_variant,,ENST00000460386,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000495110,;	1631	39	51	SUCCESS
IQSEC2	23096	.	GRCh37	X	53272572	53272572	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781808414	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	45	41	0	ENST00000396435.3:c.2831A>T	p.Asn944Ile	p.N944I	ENST00000396435	NM_001111125.2	944	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS48130.1	2831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGTTGGTC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF61,Gene3D:1.10.1000.11	.	.	ENSP00000379712	.	9/15	.	.	.	.	.	.	.	.	rs781808414	9/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.419)	.	deleterious(0)	.	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,missense_variant,p.Asn739Ile,ENST00000375365,;IQSEC2,missense_variant,p.Asn934Ile,ENST00000375368,;IQSEC2,missense_variant,p.Asn944Ile,ENST00000396435,;	3032	41	59	SUCCESS
EDA	1896	.	GRCh37	X	69255445	69255445	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	37	49	0	ENST00000374552.4:c.1162G>T	p.Ala388Ser	p.A388S	ENST00000374552	NM_001399.4	388	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14394.1	1162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAGCCCCT	NONE	.	.	Gene3D:2.60.120.40,Superfamily_domains:SSF49842	.	.	ENSP00000363680	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000374552	Transcript	.	.	ENSG00000158813	3157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious_low_confidence(0.03)	.	EDA_HUMAN	EDA	HGNC	D6RA95_HUMAN	.	UPI0000052244	SNV	EDA,missense_variant,p.Ala386Ser,ENST00000374553,;EDA,missense_variant,p.Ala383Ser,ENST00000524573,;EDA,missense_variant,p.Ala388Ser,ENST00000374552,;EDA,downstream_gene_variant,,ENST00000503592,;AWAT2,downstream_gene_variant,,ENST00000276101,;	1404	49	62	SUCCESS
ARL3	403	.	GRCh37	10	104474063	104474063	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs35787554	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	64	174	0	ENST00000260746.5:c.-31G>C		p.*11*	ENST00000260746	NM_004311.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7538.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCTCCTG	NONE	.	.	.	.	.	ENSP00000260746	.	1/6	.	.	.	.	.	.	.	.	rs35787554	1/6	PASS	ENST00000260746	Transcript	.	.	ENSG00000138175	694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL3_HUMAN	ARL3	HGNC	.	.	UPI0000125EE4	SNV	ARL3,5_prime_UTR_variant,,ENST00000260746,;SFXN2,upstream_gene_variant,,ENST00000602764,;SFXN2,upstream_gene_variant,,ENST00000602831,;SFXN2,upstream_gene_variant,,ENST00000602439,;SFXN2,upstream_gene_variant,,ENST00000369893,;SFXN2,upstream_gene_variant,,ENST00000602647,;SFXN2,upstream_gene_variant,,ENST00000602785,;SFXN2,upstream_gene_variant,,ENST00000602670,;SFXN2,upstream_gene_variant,,ENST00000459894,;SFXN2,upstream_gene_variant,,ENST00000602287,;SFXN2,upstream_gene_variant,,ENST00000602660,;SFXN2,upstream_gene_variant,,ENST00000480358,;SFXN2,upstream_gene_variant,,ENST00000602544,;	102	174	147	SUCCESS
PTF1A	256297	.	GRCh37	10	23481461	23481461	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	394	223	658	0	ENST00000376504.3:c.2T>A	p.Met1?	p.M1?	ENST00000376504	NM_178161.2	1	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS7143.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATGGACG	NONE	.	.	.	.	.	ENSP00000365687	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376504	Transcript	1	.	ENSG00000168267	23734	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.599)	.	deleterious_low_confidence(0)	.	PTF1A_HUMAN	PTF1A	HGNC	.	.	UPI000018F612	SNV	PTF1A,start_lost,p.Met1?,ENST00000376504,;	206	658	618	SUCCESS
ZEB1	6935	.	GRCh37	10	31799687	31799687	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	45	168	1	ENST00000320985.10:c.568A>T	p.Lys190Ter	p.K190*	ENST00000320985		190	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS53505.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTAAATAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF3,PROSITE_patterns:PS00028,Pfam_domain:PF05605,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354487	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000361642	Transcript	1	.	ENSG00000148516	11642	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEB1_HUMAN	ZEB1	HGNC	F6TDF5_HUMAN	.	UPI000068F51D	SNV	ZEB1,stop_gained,p.Lys170Ter,ENST00000560721,;ZEB1,stop_gained,p.Lys191Ter,ENST00000361642,;ZEB1,stop_gained,p.Lys190Ter,ENST00000320985,;ZEB1,stop_gained,p.Lys123Ter,ENST00000542815,;ZEB1,stop_gained,p.Lys191Ter,ENST00000424869,;ZEB1,stop_gained,p.Lys174Ter,ENST00000446923,;ZEB1,stop_gained,p.Lys116Ter,ENST00000558440,;ZEB1,stop_gained,p.Lys174Ter,ENST00000559476,;ZEB1,stop_gained,p.Lys198Ter,ENST00000561212,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,;ZEB1,3_prime_UTR_variant,,ENST00000561061,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559496,;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000557827,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558863,;ZEB1,non_coding_transcript_exon_variant,,ENST00000561304,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558655,;	634	169	125	SUCCESS
SLC18A3	6572	.	GRCh37	10	50818690	50818690	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	21	0	ENST00000374115.3:c.-97C>G		p.*33*	ENST00000374115	NM_003055.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7231.1	.	RADIA|MUTECT|MUSE	.	CAGGACAGCCT	NONE	.	.	.	.	.	ENSP00000363229	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374115	Transcript	.	.	ENSG00000187714	10936	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VACHT_HUMAN	SLC18A3	HGNC	.	.	UPI00001F98C1	SNV	SLC18A3,5_prime_UTR_variant,,ENST00000374115,;CHAT,intron_variant,,ENST00000339797,;CHAT,upstream_gene_variant,,ENST00000395562,;CHAT,upstream_gene_variant,,ENST00000395559,;CHAT,upstream_gene_variant,,ENST00000455728,;CHAT,upstream_gene_variant,,ENST00000337653,;CHAT,upstream_gene_variant,,ENST00000351556,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000466590,;	344	21	20	SUCCESS
MAT1A	4143	.	GRCh37	10	82036146	82036146	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778408327	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	90	0	ENST00000372213.3:c.754A>G	p.Ile252Val	p.I252V	ENST00000372213	NM_000429.2	252	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7365.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGATGACAA	NONE	.	.	HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Pfam_domain:PF02773,Gene3D:3.30.300.10,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	.	.	ENSP00000361287	.	6/9	.	.	.	.	.	.	.	.	rs778408327	6/9	PASS	ENST00000372213	Transcript	1	.	ENSG00000151224	6903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.09)	.	METK1_HUMAN	MAT1A	HGNC	.	.	UPI000012EFF3	SNV	MAT1A,missense_variant,p.Ile252Val,ENST00000372213,;MAT1A,downstream_gene_variant,,ENST00000455001,;MAT1A,upstream_gene_variant,,ENST00000480845,;MAT1A,upstream_gene_variant,,ENST00000485270,;	1015	90	77	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103325984	103325984	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	83	0	ENST00000375735.2:c.12527C>T	p.Pro4176Leu	p.P4176L	ENST00000375735	NM_001080463.1	4176	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44717.1	12548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCAGACA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF03028	.	.	ENSP00000381167	.	87/90	.	.	.	.	.	.	.	.	.	87/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Pro4183Leu,ENST00000398093,;DYNC2H1,missense_variant,p.Pro789Leu,ENST00000334267,;DYNC2H1,missense_variant,p.Pro4176Leu,ENST00000375735,;DYNC2H1,missense_variant,p.Pro93Leu,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	12548	83	57	SUCCESS
PANX3	116337	.	GRCh37	11	124482989	124482989	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	49	0	ENST00000284288.2:c.295G>A	p.Asp99Asn	p.D99N	ENST00000284288	NM_052959.2	99	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8447.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGACAAA	NONE	.	.	Pfam_domain:PF00876,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3,PROSITE_profiles:PS51013	.	.	ENSP00000284288	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000284288	Transcript	.	.	ENSG00000154143	20573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.34)	.	PANX3_HUMAN	PANX3	HGNC	.	.	UPI0000131264	SNV	PANX3,missense_variant,p.Asp99Asn,ENST00000284288,;	362	49	45	SUCCESS
MUC5B	727897	.	GRCh37	11	1270921	1270921	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	147	0	ENST00000529681.1:c.12811T>A	p.Ser4271Thr	p.S4271T	ENST00000529681	NM_002458.2	4271	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS44515.2	12811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCTCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ser4271Thr,ENST00000529681,;MUC5B,missense_variant,p.Ser4274Thr,ENST00000447027,;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	12869	147	139	SUCCESS
PTPN5	84867	.	GRCh37	11	18751293	18751293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	49	0	ENST00000358540.2:c.1402G>T	p.Ala468Ser	p.A468S	ENST00000358540	NM_006906.1	468	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS7845.1	1402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCCGGT	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799	.	.	ENSP00000351342	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000358540	Transcript	.	.	ENSG00000110786	9657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PTN5_HUMAN	PTPN5	HGNC	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN	.	UPI00001AE663	SNV	PTPN5,missense_variant,p.Ala468Ser,ENST00000358540,;PTPN5,missense_variant,p.Ala436Ser,ENST00000396170,;PTPN5,missense_variant,p.Ala74Ser,ENST00000396166,;PTPN5,missense_variant,p.Ala436Ser,ENST00000396167,;PTPN5,missense_variant,p.Ala468Ser,ENST00000396171,;PTPN5,missense_variant,p.Ala444Ser,ENST00000396168,;PTPN5,missense_variant,p.Ala272Ser,ENST00000477854,;IGSF22,upstream_gene_variant,,ENST00000513874,;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,upstream_gene_variant,,ENST00000412229,;IGSF22,upstream_gene_variant,,ENST00000319338,;IGSF22,upstream_gene_variant,,ENST00000504981,;	1833	49	47	SUCCESS
SLC5A12	159963	.	GRCh37	11	26714081	26714081	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750860580	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	96	0	ENST00000396005.3:c.1108C>T	p.Pro370Ser	p.P370S	ENST00000396005	NM_178498.3	370	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7860.2	1108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGAAAAC	NONE	byFrequency	.	hmmpanther:PTHR11819,Pfam_domain:PF00474,hmmpanther:PTHR11819:SF113,PROSITE_profiles:PS50283,TIGRFAM_domain:TIGR00813	.	.	ENSP00000379326	.	9/15	.	.	.	.	.	.	.	.	rs750860580	9/15	PASS	ENST00000396005	Transcript	.	.	ENSG00000148942	28750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	tolerated(0.12)	.	SC5AC_HUMAN	SLC5A12	HGNC	E9PLZ7_HUMAN	.	UPI000003ED2C	SNV	SLC5A12,missense_variant,p.Pro370Ser,ENST00000280467,;SLC5A12,missense_variant,p.Pro370Ser,ENST00000396005,;SLC5A12,downstream_gene_variant,,ENST00000533617,;SLC5A12,missense_variant,p.Pro182Ser,ENST00000527405,;	1418	96	83	SUCCESS
EXT2	2132	.	GRCh37	11	44193161	44193161	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	71	0	ENST00000343631.3:c.1174G>C	p.Ala392Pro	p.A392P	ENST00000343631		392	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS53618.1	1273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGGCCCGG	NONE	.	.	hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF6	.	.	ENSP00000379032	.	8/14	.	.	.	.	.	.	.	.	CS063301	8/14	PASS	ENST00000395673	Transcript	.	.	ENSG00000151348	3513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.419)	.	tolerated(0.34)	.	EXT2_HUMAN	EXT2	HGNC	E9PNL9_HUMAN,E9PJA5_HUMAN	.	UPI0000EE3A5C	SNV	EXT2,missense_variant,p.Ala392Pro,ENST00000533608,;EXT2,missense_variant,p.Ala425Pro,ENST00000395673,;EXT2,missense_variant,p.Ala392Pro,ENST00000343631,;EXT2,intron_variant,,ENST00000358681,;EXT2,splice_region_variant,,ENST00000531161,;EXT2,splice_region_variant,,ENST00000534048,;EXT2,splice_region_variant,,ENST00000525559,;	1329	71	51	SUCCESS
OR51I2	390064	.	GRCh37	11	5475217	5475217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	55	0	ENST00000341449.2:c.499C>A	p.Pro167Thr	p.P167T	ENST00000341449	NM_001004754.2	167	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS31383.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCTATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF112,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000341987	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341449	Transcript	.	.	ENSG00000187918	15201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	O51I2_HUMAN	OR51I2	HGNC	.	.	UPI0000041CD1	SNV	OR51I2,missense_variant,p.Pro167Thr,ENST00000341449,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;	580	55	21	SUCCESS
OR5D14	219436	.	GRCh37	11	55563595	55563595	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	119	0	ENST00000335605.1:c.564T>A	p.Ser188=	p.S188=	ENST00000335605	NM_001004735.1	188	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS31508.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGTGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	COSM246272	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,synonymous_variant,p.%3D,ENST00000335605,;	564	119	88	SUCCESS
TRIM49	57093	.	GRCh37	11	89537577	89537577	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	158	0	ENST00000329758.1:c.61T>A	p.Tyr21Asn	p.Y21N	ENST00000329758	NM_020358.2	21	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS8287.1	61	MUTECT|VARSCANS	.	GAAGTAGTTCA	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000327604	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000329758	Transcript	.	.	ENSG00000168930	13431	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	TRI49_HUMAN	TRIM49	HGNC	I1YAQ5_HUMAN	.	UPI000013431B	SNV	TRIM49,missense_variant,p.Tyr21Asn,ENST00000532501,;TRIM49,missense_variant,p.Tyr21Asn,ENST00000329758,;	390	158	80	SUCCESS
KNTC1	9735	.	GRCh37	12	123106426	123106426	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	137	0	ENST00000333479.7:c.6280-2A>T		p.X2094_splice	ENST00000333479	NM_014708.4	2094		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45002.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTAGAATT	NONE	.	.	.	.	.	ENSP00000328236	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	HIGH	60/63	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	KNTC1,splice_acceptor_variant,,ENST00000436959,;KNTC1,splice_acceptor_variant,,ENST00000534995,;KNTC1,splice_acceptor_variant,,ENST00000537348,;KNTC1,splice_acceptor_variant,,ENST00000333479,;KNTC1,splice_acceptor_variant,,ENST00000450485,;HCAR1,intron_variant,,ENST00000356987,;KNTC1,downstream_gene_variant,,ENST00000546125,;KNTC1,downstream_gene_variant,,ENST00000539013,;KNTC1,downstream_gene_variant,,ENST00000541427,;	.	137	81	SUCCESS
FGF23	8074	.	GRCh37	12	4479524	4479524	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	24	148	0	ENST00000237837.1:c.741C>G	p.Phe247Leu	p.F247L	ENST00000237837	NM_020638.2	247	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS8526.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCGAAGGG	NONE	.	.	hmmpanther:PTHR11486:SF69,hmmpanther:PTHR11486	.	.	ENSP00000237837	.	3/3	.	.	.	.	.	.	.	.	COSM244516	3/3	PASS	ENST00000237837	Transcript	.	.	ENSG00000118972	3680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated_low_confidence(0.1)	1	FGF23_HUMAN	FGF23	HGNC	.	.	UPI000003ED58	SNV	FGF23,missense_variant,p.Phe247Leu,ENST00000237837,;	887	148	110	SUCCESS
NDUFA9	4704	.	GRCh37	12	4794433	4794433	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770855525	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	148	0	ENST00000266544.5:c.905C>T	p.Ala302Val	p.A302V	ENST00000266544	NM_005002.4	302	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8532.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCAAGAG	NONE	.	.	hmmpanther:PTHR12126:SF1,hmmpanther:PTHR12126,Superfamily_domains:SSF51735	.	.	ENSP00000266544	.	10/11	.	.	.	.	.	.	.	.	rs770855525	10/11	PASS	ENST00000266544	Transcript	.	.	ENSG00000139180	7693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.08)	.	NDUA9_HUMAN	NDUFA9	HGNC	Q9BTT5_HUMAN	.	UPI000013090E	SNV	NDUFA9,missense_variant,p.Ala61Val,ENST00000540688,;NDUFA9,missense_variant,p.Ala302Val,ENST00000266544,;RP11-234B24.6,missense_variant,p.Ala61Val,ENST00000544741,;RP11-234B24.6,intron_variant,,ENST00000543979,;NDUFA9,downstream_gene_variant,,ENST00000544675,;	925	148	101	SUCCESS
GPD1	2819	.	GRCh37	12	50497824	50497824	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	88	0	ENST00000301149.3:c.-10A>G		p.*4*	ENST00000301149	NM_001257199.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8799.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGACGCGG	NONE	.	.	.	.	.	ENSP00000301149	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000301149	Transcript	.	.	ENSG00000167588	4455	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPDA_HUMAN	GPD1	HGNC	.	.	UPI0000072D4F	SNV	GPD1,5_prime_UTR_variant,,ENST00000301149,;GPD1,5_prime_UTR_variant,,ENST00000548814,;SMARCD1,downstream_gene_variant,,ENST00000394963,;SMARCD1,downstream_gene_variant,,ENST00000548573,;SMARCD1,downstream_gene_variant,,ENST00000381513,;GPD1,non_coding_transcript_exon_variant,,ENST00000547190,;SMARCD1,downstream_gene_variant,,ENST00000549526,;GPD1,upstream_gene_variant,,ENST00000548152,;GPD1,5_prime_UTR_variant,,ENST00000547964,;GPD1,non_coding_transcript_exon_variant,,ENST00000551939,;SMARCD1,downstream_gene_variant,,ENST00000549274,;SMARCD1,downstream_gene_variant,,ENST00000551352,;GPD1,upstream_gene_variant,,ENST00000550172,;SMARCD1,downstream_gene_variant,,ENST00000550280,;	223	88	80	SUCCESS
NBEA	26960	.	GRCh37	13	35729962	35729962	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771337651	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	115	1	ENST00000400445.3:c.2497C>A	p.Pro833Thr	p.P833T	ENST00000400445	NM_015678.4	833	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS45026.1	2497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCAGAT	NONE	byFrequency	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	19/58	.	.	.	.	.	.	.	.	rs771337651	19/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Pro833Thr,ENST00000400445,;NBEA,missense_variant,p.Pro833Thr,ENST00000540320,;NBEA,missense_variant,p.Pro833Thr,ENST00000310336,;NBEA,missense_variant,p.Pro833Thr,ENST00000379939,;	3031	116	91	SUCCESS
NBEA	26960	.	GRCh37	13	35729963	35729963	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	115	1	ENST00000400445.3:c.2498C>A	p.Pro833Gln	p.P833Q	ENST00000400445	NM_015678.4	833	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS45026.1	2498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCAGATT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	19/58	.	.	.	.	.	.	.	.	.	19/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Pro833Gln,ENST00000400445,;NBEA,missense_variant,p.Pro833Gln,ENST00000540320,;NBEA,missense_variant,p.Pro833Gln,ENST00000310336,;NBEA,missense_variant,p.Pro833Gln,ENST00000379939,;	3032	116	91	SUCCESS
SMAD9	4093	.	GRCh37	13	37453684	37453684	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	62	0	ENST00000379826.4:c.143A>T	p.Lys48Met	p.K48M	ENST00000379826	NM_001127217.2	48	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS45032.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:0040928,SMART_domains:SM00523,Pfam_domain:PF03165,Gene3D:1ozjA00,hmmpanther:PTHR13703:SF37,hmmpanther:PTHR13703,PROSITE_profiles:PS51075	.	.	ENSP00000369154	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000379826	Transcript	.	.	ENSG00000120693	6774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SMAD9_HUMAN	SMAD9	HGNC	.	.	UPI0000135A85	SNV	SMAD9,missense_variant,p.Lys48Met,ENST00000350148,;SMAD9,missense_variant,p.Lys48Met,ENST00000379826,;SMAD9,missense_variant,p.Lys48Met,ENST00000399275,;SMAD9,non_coding_transcript_exon_variant,,ENST00000483941,;	486	62	57	SUCCESS
LPAR6	10161	.	GRCh37	13	48986793	48986793	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	5	177	0	ENST00000345941.2:c.-234A>C		p.*78*	ENST00000345941	NM_001162497.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9410.1	.	MUTECT|MUSE	.	GTCTTTAGAAA	NONE	.	.	.	.	.	ENSP00000367691	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000378434	Transcript	.	.	ENSG00000139679	15520	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPAR6_HUMAN	LPAR6	HGNC	F2YGU4_HUMAN	.	UPI0000001083	SNV	LPAR6,5_prime_UTR_variant,,ENST00000345941,;LPAR6,5_prime_UTR_variant,,ENST00000378434,;RB1,intron_variant,,ENST00000267163,;LPAR6,intron_variant,,ENST00000470937,;LPAR6,intron_variant,,ENST00000462781,;LPAR6,upstream_gene_variant,,ENST00000482024,;	1392	177	122	SUCCESS
IGHG1	3500	.	GRCh37	14	106209392	106209392	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	29	0	ENST00000390549.2:c.17del	p.Pro6HisfsTer32	p.P6Hfs*32	ENST00000390549		6	cCa/ca	0	.	.	.	.	.	-	P/X	IG_C_gene	YES	.	17	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCGATGGGCCC	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835	.	.	ENSP00000374990	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000390548	Transcript	1	.	ENSG00000211896	5525	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGHG1	HGNC	.	.	UPI000173A69D	deletion	IGHG1,frameshift_variant,p.Pro6HisfsTer32,ENST00000390542,;IGHG1,frameshift_variant,p.Pro6HisfsTer32,ENST00000390549,;IGHG1,frameshift_variant,p.Pro6HisfsTer32,ENST00000390548,;	17	29	35	SUCCESS
OR4K1	79544	.	GRCh37	14	20404569	20404569	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	112	1	ENST00000285600.4:c.744T>G	p.Ile248Met	p.I248M	ENST00000285600	NM_001004063.2	248	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS32025.1	744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATTCTTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF182,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000285600	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000285600	Transcript	.	.	ENSG00000155249	14726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	tolerated(0.09)	.	OR4K1_HUMAN	OR4K1	HGNC	.	.	UPI0000041B4A	SNV	OR4K1,missense_variant,p.Ile248Met,ENST00000285600,;	803	113	98	SUCCESS
RNASE11	122651	.	GRCh37	14	21052215	21052215	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	46	140	1	ENST00000398008.2:c.419T>C	p.Val140Ala	p.V140A	ENST00000398008		140	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS9553.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTACAAAC	NONE	.	.	hmmpanther:PTHR11437:SF22,hmmpanther:PTHR11437,Gene3D:3.10.130.10,Pfam_domain:PF00074,Superfamily_domains:SSF54076	.	.	ENSP00000476537	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000610205	Transcript	.	.	ENSG00000173464	19269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	.	RNASE11	HGNC	Q5GAN5_HUMAN,G3V5L6_HUMAN,G3V3W8_HUMAN,C9JYR4_HUMAN,C9JHH6_HUMAN	.	UPI000000CC00	SNV	RNASE11,missense_variant,p.Val140Ala,ENST00000557105,;RNASE11,missense_variant,p.Val140Ala,ENST00000398009,;RNASE11,missense_variant,p.Val140Ala,ENST00000555841,;RNASE11,missense_variant,p.Val140Ala,ENST00000413502,;RNASE11,missense_variant,p.Val140Ala,ENST00000432835,;RNASE11,missense_variant,p.Val140Ala,ENST00000443456,;RNASE11,missense_variant,p.Val140Ala,ENST00000553849,;RNASE11,missense_variant,p.Val140Ala,ENST00000610205,;RNASE11,missense_variant,p.Val140Ala,ENST00000398008,;RNASE11,missense_variant,p.Val140Ala,ENST00000557503,;RNASE11,downstream_gene_variant,,ENST00000554842,;RNASE11,downstream_gene_variant,,ENST00000555283,;RP11-14J7.6,upstream_gene_variant,,ENST00000553604,;RP11-14J7.6,upstream_gene_variant,,ENST00000554006,;RP11-14J7.6,upstream_gene_variant,,ENST00000554529,;RP11-14J7.6,upstream_gene_variant,,ENST00000556487,;RNASE11,3_prime_UTR_variant,,ENST00000335950,;	603	141	152	SUCCESS
SLC7A7	9056	.	GRCh37	14	23243206	23243206	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	136	116	0	ENST00000285850.7:c.1365C>A	p.Pro455=	p.P455=	ENST00000285850		455	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9574.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGGGCAG	NONE	.	.	Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785:SF303,hmmpanther:PTHR11785	.	.	ENSP00000380666	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000397532	Transcript	.	.	ENSG00000155465	11065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YLAT1_HUMAN	SLC7A7	HGNC	G3V5W2_HUMAN,G3V5A1_HUMAN,G3V4Z6_HUMAN,G3V4U1_HUMAN,G3V362_HUMAN,G3V2L0_HUMAN,G3V2H8_HUMAN,G3V273_HUMAN,D6RFE5_HUMAN	.	UPI000000CC04	SNV	SLC7A7,synonymous_variant,p.%3D,ENST00000554517,;SLC7A7,synonymous_variant,p.%3D,ENST00000556350,;SLC7A7,synonymous_variant,p.%3D,ENST00000397529,;SLC7A7,synonymous_variant,p.%3D,ENST00000397532,;SLC7A7,synonymous_variant,p.%3D,ENST00000397528,;SLC7A7,synonymous_variant,p.%3D,ENST00000555702,;SLC7A7,synonymous_variant,p.%3D,ENST00000285850,;OXA1L,downstream_gene_variant,,ENST00000431881,;OXA1L,downstream_gene_variant,,ENST00000604262,;OXA1L,downstream_gene_variant,,ENST00000412791,;OXA1L,downstream_gene_variant,,ENST00000285848,;OXA1L,downstream_gene_variant,,ENST00000358043,;SLC7A7,non_coding_transcript_exon_variant,,ENST00000554061,;SLC7A7,3_prime_UTR_variant,,ENST00000556287,;SLC7A7,non_coding_transcript_exon_variant,,ENST00000555678,;OXA1L,downstream_gene_variant,,ENST00000442110,;OXA1L,downstream_gene_variant,,ENST00000473744,;OXA1L,downstream_gene_variant,,ENST00000495424,;OXA1L,downstream_gene_variant,,ENST00000481218,;	1891	117	193	SUCCESS
MAGEL2	54551	.	GRCh37	15	23890781	23890781	+	synonymous_variant	Silent	SNP	C	C	T	rs1267408692	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	50	137	1	ENST00000532292.1:c.300G>A	p.Ala100=	p.A100=	ENST00000532292	NM_019066.4	100	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	.	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCGCTGC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	COSM1587728	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,synonymous_variant,p.%3D,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	395	138	181	SUCCESS
WHAMMP2	440253	.	GRCh37	15	28996727	28996727	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	21	0	ENST00000512149.2:n.199G>A		p.*67*	ENST00000512149				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	AATTCGGAAGT	NONE	.	.	.	.	.	.	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000512149	Transcript	.	.	ENSG00000248334	32360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	WHAMMP2	HGNC	.	.	.	SNV	WHAMMP2,non_coding_transcript_exon_variant,,ENST00000508764,;WHAMMP2,non_coding_transcript_exon_variant,,ENST00000512149,;WHAMMP2,downstream_gene_variant,,ENST00000515318,;WHAMMP2,non_coding_transcript_exon_variant,,ENST00000563942,;	199	21	20	SUCCESS
ACTC1	70	.	GRCh37	15	35084456	35084456	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	67	135	0	ENST00000290378.4:c.643A>T	p.Lys215Ter	p.K215*	ENST00000290378	NM_005159.4	215	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS10041.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTTAATGT	BUFFER|p.R212C|c.634C>T|4	.	.	hmmpanther:PTHR11937:SF176,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000290378	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000290378	Transcript	1	.	ENSG00000159251	143	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTC_HUMAN	ACTC1	HGNC	B3KPP5_HUMAN	.	UPI0000003F15	SNV	ACTC1,stop_gained,p.Lys215Ter,ENST00000290378,;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,non_coding_transcript_exon_variant,,ENST00000557860,;ACTC1,non_coding_transcript_exon_variant,,ENST00000560563,;	1299	135	119	SUCCESS
UBR1	197131	.	GRCh37	15	43269020	43269020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	43	182	0	ENST00000290650.4:c.4264G>T	p.Val1422Phe	p.V1422F	ENST00000290650	NM_174916.2	1422	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS10091.1	4264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAACAGGGT	NONE	.	.	hmmpanther:PTHR21497:SF27,hmmpanther:PTHR21497	.	.	ENSP00000290650	.	39/47	.	.	.	.	.	.	.	.	.	39/47	PASS	ENST00000290650	Transcript	1	.	ENSG00000159459	16808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	UBR1_HUMAN	UBR1	HGNC	.	.	UPI0000074467	SNV	UBR1,missense_variant,p.Val1422Phe,ENST00000290650,;UBR1,3_prime_UTR_variant,,ENST00000382177,;	4343	182	165	SUCCESS
GATM	2628	.	GRCh37	15	45661556	45661556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	147	0	ENST00000396659.3:c.452T>C	p.Leu151Ser	p.L151S	ENST00000396659	NM_001482.2	151	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS10122.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCAATGAC	NONE	.	.	hmmpanther:PTHR10488,Gene3D:3.75.10.10,Superfamily_domains:SSF55909	.	.	ENSP00000379895	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000396659	Transcript	1	.	ENSG00000171766	4175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.7)	.	GATM_HUMAN	GATM	HGNC	H0YN43_HUMAN,H0YLC6_HUMAN,H0YKW9_HUMAN	.	UPI0000111EFD	SNV	GATM,missense_variant,p.Leu78Ser,ENST00000558163,;GATM,missense_variant,p.Leu22Ser,ENST00000561148,;GATM,missense_variant,p.Leu22Ser,ENST00000558537,;GATM,missense_variant,p.Leu151Ser,ENST00000558336,;GATM,missense_variant,p.Leu151Ser,ENST00000396659,;GATM,downstream_gene_variant,,ENST00000559885,;GATM,non_coding_transcript_exon_variant,,ENST00000558916,;GATM,non_coding_transcript_exon_variant,,ENST00000558362,;GATM,upstream_gene_variant,,ENST00000561376,;GATM,downstream_gene_variant,,ENST00000558118,;	792	147	106	SUCCESS
UNC13C	440279	.	GRCh37	15	54308039	54308039	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	108	184	0	ENST00000260323.11:c.2939A>T	p.Tyr980Phe	p.Y980F	ENST00000260323	NM_001080534.1	980	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS45264.1	2939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTATAAAA	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	deleterious_low_confidence(0.03)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.Tyr980Phe,ENST00000537900,;UNC13C,missense_variant,p.Tyr980Phe,ENST00000545554,;UNC13C,missense_variant,p.Tyr980Phe,ENST00000260323,;	2939	184	183	SUCCESS
RFX7	64864	.	GRCh37	15	56388189	56388189	+	synonymous_variant	Silent	SNP	C	C	T	rs372457778	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	28	0	ENST00000559447.2:c.1446G>A	p.Leu482=	p.L482=	ENST00000559447		482	ctG/ctA	0	T:0	.	.	.	.	T	L	protein_coding	YES	.	1737	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCAGTGC	NONE	byCluster	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	T:0.0001	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	rs372457778	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,synonymous_variant,p.%3D,ENST00000423270,;RFX7,synonymous_variant,p.%3D,ENST00000559447,;RFX7,synonymous_variant,p.%3D,ENST00000317318,;RFX7,synonymous_variant,p.%3D,ENST00000422057,;RFX7,synonymous_variant,p.%3D,ENST00000559847,;	1737	28	40	SUCCESS
RHCG	51458	.	GRCh37	15	90016014	90016014	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	24	128	0	ENST00000268122.4:c.1392del	p.Met465TrpfsTer39	p.M465Wfs*39	ENST00000268122	NM_016321.1	464	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10351.1	1392	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCATGGGTAC	NONE	.	.	hmmpanther:PTHR11883:SF12,hmmpanther:PTHR11883,Low_complexity_(Seg):seg	.	.	ENSP00000268122	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000268122	Transcript	.	.	ENSG00000140519	18140	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHCG_HUMAN	RHCG	HGNC	.	.	UPI00000343FD	deletion	RHCG,frameshift_variant,p.Met465TrpfsTer39,ENST00000268122,;RHCG,frameshift_variant,p.Met223TrpfsTer28,ENST00000558360,;RHCG,intron_variant,,ENST00000544600,;RHCG,3_prime_UTR_variant,,ENST00000560081,;RHCG,3_prime_UTR_variant,,ENST00000558030,;RHCG,downstream_gene_variant,,ENST00000558184,;	1461	128	145	SUCCESS
TBC1D10B	26000	.	GRCh37	16	30380742	30380742	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772819144	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	56	0	ENST00000409939.3:c.763G>T	p.Gly255Cys	p.G255C	ENST00000409939	NM_015527.3	255	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS10676.2	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCCAGGTC	NONE	.	.	hmmpanther:PTHR22957:SF207,hmmpanther:PTHR22957	.	.	ENSP00000386538	.	1/9	.	.	.	.	.	.	.	.	rs772819144	1/9	PASS	ENST00000409939	Transcript	.	.	ENSG00000169221	24510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	deleterious_low_confidence(0)	.	TB10B_HUMAN	TBC1D10B	HGNC	.	.	UPI000164FA1A	SNV	TBC1D10B,missense_variant,p.Gly255Cys,ENST00000409939,;MYLPF,upstream_gene_variant,,ENST00000568749,;TBC1D10B,upstream_gene_variant,,ENST00000490703,;MYLPF,upstream_gene_variant,,ENST00000563718,;TBC1D10B,upstream_gene_variant,,ENST00000478158,;TBC1D10B,upstream_gene_variant,,ENST00000464644,;	844	56	43	SUCCESS
TMEM11	8834	.	GRCh37	17	21117539	21117539	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	75	112	0	ENST00000317635.5:c.-74A>C		p.*25*	ENST00000317635	NM_003876.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11216.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGTAGTCC	NONE	.	.	.	.	.	ENSP00000319992	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000317635	Transcript	.	.	ENSG00000178307	16823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM11_HUMAN	TMEM11	HGNC	.	.	UPI0000131C88	SNV	TMEM11,5_prime_UTR_variant,,ENST00000317635,;AC087294.2,upstream_gene_variant,,ENST00000439136,;AC087294.2,upstream_gene_variant,,ENST00000580291,;TMEM11,upstream_gene_variant,,ENST00000584432,;TMEM11,upstream_gene_variant,,ENST00000584732,;TMEM11,upstream_gene_variant,,ENST00000583929,;TMEM11,upstream_gene_variant,,ENST00000577419,;TMEM11,upstream_gene_variant,,ENST00000583264,;	399	112	95	SUCCESS
PPP1R1B	84152	.	GRCh37	17	37791909	37791909	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	62	113	0	ENST00000254079.4:c.495C>T	p.Arg165=	p.R165=	ENST00000254079	NM_032192.3	165	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11339.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCCCACC	NONE	.	.	hmmpanther:PTHR15417:SF2,hmmpanther:PTHR15417,Pfam_domain:PF05395	.	.	ENSP00000254079	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000254079	Transcript	.	.	ENSG00000131771	9287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR1B_HUMAN	PPP1R1B	HGNC	Q9NNW1_HUMAN,B3KVQ9_HUMAN	.	UPI000012D808	SNV	PPP1R1B,synonymous_variant,p.%3D,ENST00000394265,;PPP1R1B,synonymous_variant,p.%3D,ENST00000580825,;PPP1R1B,synonymous_variant,p.%3D,ENST00000254079,;PPP1R1B,synonymous_variant,p.%3D,ENST00000394267,;PPP1R1B,synonymous_variant,p.%3D,ENST00000579000,;STARD3,upstream_gene_variant,,ENST00000577248,;PPP1R1B,downstream_gene_variant,,ENST00000582680,;STARD3,upstream_gene_variant,,ENST00000336308,;STARD3,upstream_gene_variant,,ENST00000579479,;STARD3,upstream_gene_variant,,ENST00000544210,;STARD3,upstream_gene_variant,,ENST00000581894,;STARD3,upstream_gene_variant,,ENST00000394250,;STARD3,upstream_gene_variant,,ENST00000580611,;STARD3,upstream_gene_variant,,ENST00000583718,;STARD3,upstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000585214,;STARD3,upstream_gene_variant,,ENST00000578232,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000580029,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000583446,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000492037,;STARD3,upstream_gene_variant,,ENST00000583582,;STARD3,upstream_gene_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000578577,;	964	113	115	SUCCESS
GFAP	2670	.	GRCh37	17	42992812	42992812	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146698039	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	63	108	0	ENST00000253408.5:c.43G>A	p.Val15Ile	p.V15I	ENST00000253408	NM_002055.4	15	Gtc/Atc	0	T:0.0002	.	.	.	.	T	V/I	protein_coding	YES	CCDS59296.1	43	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACGTAGG	NONE	byCluster	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF41	.	T:0	ENSP00000468500	.	1/7	.	.	.	.	.	.	.	.	rs146698039	1/7	PASS	ENST00000586793	Transcript	.	.	ENSG00000131095	4235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.43)	.	GFAP_HUMAN	GFAP	HGNC	K7EKD1_HUMAN,K7EJK1_HUMAN,A7REI1_HUMAN	.	UPI0000680AD5	SNV	GFAP,missense_variant,p.Val15Ile,ENST00000588316,;GFAP,missense_variant,p.Val15Ile,ENST00000592320,;GFAP,missense_variant,p.Val15Ile,ENST00000253408,;GFAP,missense_variant,p.Val15Ile,ENST00000435360,;GFAP,missense_variant,p.Val15Ile,ENST00000586793,;GFAP,missense_variant,p.Val15Ile,ENST00000588037,;GFAP,missense_variant,p.Val15Ile,ENST00000588735,;GFAP,intron_variant,,ENST00000588957,;GFAP,upstream_gene_variant,,ENST00000587997,;GFAP,upstream_gene_variant,,ENST00000586127,;GFAP,upstream_gene_variant,,ENST00000591880,;GFAP,downstream_gene_variant,,ENST00000593179,;GFAP,upstream_gene_variant,,ENST00000586125,;GFAP,non_coding_transcript_exon_variant,,ENST00000591327,;GFAP,upstream_gene_variant,,ENST00000591719,;GFAP,upstream_gene_variant,,ENST00000588640,;GFAP,missense_variant,p.Val15Ile,ENST00000585728,;GFAP,missense_variant,p.Val15Ile,ENST00000376990,;GFAP,upstream_gene_variant,,ENST00000585543,;GFAP,upstream_gene_variant,,ENST00000590922,;	51	108	117	SUCCESS
USP6	9098	.	GRCh37	17	5041492	5041492	+	synonymous_variant	Silent	SNP	C	C	T	rs769234796	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	70	0	ENST00000250066.6:c.1002C>T	p.Asn334=	p.N334=	ENST00000250066	NM_004505.2	334	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS11069.2	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAACGATGA	NONE	byFrequency	.	hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Superfamily_domains:SSF47923	.	.	ENSP00000460380	.	21/38	.	.	.	.	.	.	.	.	rs769234796,COSM981437,COSM981436	21/38	PASS	ENST00000574788	Transcript	.	.	ENSG00000129204	12629	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	UBP6_HUMAN	USP6	HGNC	Q6U210_HUMAN	.	UPI000006226F	SNV	USP6,synonymous_variant,p.%3D,ENST00000250066,;USP6,synonymous_variant,p.%3D,ENST00000574788,;USP6,synonymous_variant,p.%3D,ENST00000332776,;USP6,5_prime_UTR_variant,,ENST00000304328,;USP6,downstream_gene_variant,,ENST00000572429,;USP6,synonymous_variant,p.%3D,ENST00000572949,;USP6,synonymous_variant,p.%3D,ENST00000575709,;USP6,downstream_gene_variant,,ENST00000357482,;	3232	70	54	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62892812	62892812	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	39	174	0	ENST00000319651.5:c.564T>C	p.Asp188=	p.D188=	ENST00000319651		188	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS32708.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTATCTGT	NONE	.	.	hmmpanther:PTHR23045	.	.	ENSP00000464535	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,synonymous_variant,p.%3D,ENST00000319651,;LRRC37A3,synonymous_variant,p.%3D,ENST00000584306,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000580464,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;RP11-927P21.1,downstream_gene_variant,,ENST00000577938,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	1095	174	170	SUCCESS
GNA13	10672	.	GRCh37	17	63014400	63014400	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	290	98	349	0	ENST00000439174.2:c.532C>T	p.Leu178=	p.L178=	ENST00000439174	NM_006572.4	178	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11661.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAGGAAAT	NONE	.	.	hmmpanther:PTHR10218:SF85,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000400717	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000439174	Transcript	.	.	ENSG00000120063	4381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNA13_HUMAN	GNA13	HGNC	F5H1G8_HUMAN	.	UPI0000073EBA	SNV	GNA13,synonymous_variant,p.%3D,ENST00000541118,;GNA13,synonymous_variant,p.%3D,ENST00000439174,;	778	349	388	SUCCESS
HELZ	9931	.	GRCh37	17	65174838	65174838	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770688528	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	34	130	0	ENST00000358691.5:c.1367A>G	p.Tyr456Cys	p.Y456C	ENST00000358691	NM_014877.3	456	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS42374.1	1367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGATAGTTG	NONE	.	.	hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887	.	.	ENSP00000351524	.	13/33	.	.	.	.	.	.	.	.	rs770688528	13/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Tyr456Cys,ENST00000580168,;HELZ,missense_variant,p.Tyr144Cys,ENST00000578783,;HELZ,missense_variant,p.Tyr456Cys,ENST00000358691,;HELZ,non_coding_transcript_exon_variant,,ENST00000578938,;HELZ,missense_variant,p.Tyr456Cys,ENST00000579953,;HELZ,missense_variant,p.Tyr456Cys,ENST00000417253,;	1534	130	125	SUCCESS
PSMD12	5718	.	GRCh37	17	65340883	65340883	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	292	91	399	0	ENST00000356126.3:c.922C>G	p.Leu308Val	p.L308V	ENST00000356126	NM_002816.3	308	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS11669.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGCTTTA	NONE	.	.	hmmpanther:PTHR10855:SF1,hmmpanther:PTHR10855,Pfam_domain:PF01399	.	.	ENSP00000348442	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000356126	Transcript	.	.	ENSG00000197170	9557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.392)	.	tolerated(0.08)	.	PSD12_HUMAN	PSMD12	HGNC	.	.	UPI0000132792	SNV	PSMD12,missense_variant,p.Leu288Val,ENST00000357146,;PSMD12,missense_variant,p.Leu308Val,ENST00000356126,;PSMD12,3_prime_UTR_variant,,ENST00000584008,;PSMD12,downstream_gene_variant,,ENST00000584289,;PSMD12,upstream_gene_variant,,ENST00000577724,;	1030	399	383	SUCCESS
GPS1	2873	.	GRCh37	17	80010078	80010078	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	61	0	ENST00000306823.6:c.33+238G>T		p.*11*	ENST00000306823				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11800.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCTCAC	NONE	.	.	.	.	.	ENSP00000376167	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000392358	Transcript	.	.	ENSG00000169727	4549	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN1_HUMAN	GPS1	HGNC	J3QS88_HUMAN,J3QL53_HUMAN,J3KTB0_HUMAN,J3KSA5_HUMAN,C9JFE4_HUMAN,A8K070_HUMAN	.	UPI0000231C2E	SNV	GPS1,5_prime_UTR_variant,,ENST00000392358,;GPS1,intron_variant,,ENST00000583641,;GPS1,intron_variant,,ENST00000578552,;GPS1,intron_variant,,ENST00000320548,;GPS1,intron_variant,,ENST00000581418,;GPS1,intron_variant,,ENST00000581578,;GPS1,intron_variant,,ENST00000580716,;GPS1,intron_variant,,ENST00000355130,;GPS1,intron_variant,,ENST00000583961,;GPS1,intron_variant,,ENST00000582327,;GPS1,intron_variant,,ENST00000306823,;GPS1,intron_variant,,ENST00000583885,;GPS1,intron_variant,,ENST00000585084,;GPS1,upstream_gene_variant,,ENST00000583009,;RFNG,upstream_gene_variant,,ENST00000310496,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000578168,;RFNG,upstream_gene_variant,,ENST00000429557,;GPS1,intron_variant,,ENST00000584229,;RFNG,upstream_gene_variant,,ENST00000580928,;GPS1,downstream_gene_variant,,ENST00000583983,;RFNG,upstream_gene_variant,,ENST00000584838,;GPS1,intron_variant,,ENST00000580141,;GPS1,intron_variant,,ENST00000584460,;GPS1,intron_variant,,ENST00000580627,;GPS1,intron_variant,,ENST00000578642,;GPS1,intron_variant,,ENST00000580723,;GPS1,intron_variant,,ENST00000578392,;RFNG,upstream_gene_variant,,ENST00000584515,;RFNG,upstream_gene_variant,,ENST00000582478,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000578279,;RFNG,upstream_gene_variant,,ENST00000580953,;GPS1,upstream_gene_variant,,ENST00000583486,;RFNG,upstream_gene_variant,,ENST00000584463,;RFNG,upstream_gene_variant,,ENST00000583784,;RFNG,upstream_gene_variant,,ENST00000578676,;RFNG,upstream_gene_variant,,ENST00000580793,;	245	61	63	SUCCESS
LOXHD1	125336	.	GRCh37	18	44184173	44184173	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	31	67	0	ENST00000441551.2:c.779G>C	p.Gly260Ala	p.G260A	ENST00000441551		260	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	.	.	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCCAATA	NONE	.	.	PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Pfam_domain:PF01477,Gene3D:2.60.60.20,SMART_domains:SM00308,Superfamily_domains:SSF49723	.	.	ENSP00000387621	.	7/39	.	.	.	.	.	.	.	.	.	7/39	PASS	ENST00000441551	Transcript	.	.	ENSG00000167210	26521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.59)	.	.	LOXHD1	HGNC	J3QKX9_HUMAN,H7BZ41_HUMAN,C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI000268B46A	SNV	LOXHD1,missense_variant,p.Gly260Ala,ENST00000441551,;LOXHD1,missense_variant,p.Gly260Ala,ENST00000536736,;LOXHD1,upstream_gene_variant,,ENST00000398722,;LOXHD1,upstream_gene_variant,,ENST00000335730,;	779	67	56	SUCCESS
SMAD4	4089	.	GRCh37	18	48575189	48575189	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	157	0	ENST00000342988.3:c.383T>C	p.Val128Ala	p.V128A	ENST00000342988	NM_005359.5	128	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11950.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTGAATC	CODON|p.0?|c.1_1659del1659|28,BUFFER|p.P130L|c.389C>T|3	.	.	PROSITE_profiles:PS51075,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03165,Gene3D:1ozjA00,SMART_domains:SM00523,Superfamily_domains:0040928	.	.	ENSP00000341551	.	3/12	.	.	.	.	.	.	.	.	COSM1389033	3/12	PASS	ENST00000342988	Transcript	.	.	ENSG00000141646	6770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.983)	.	deleterious(0)	1	SMAD4_HUMAN	SMAD4	HGNC	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN	.	UPI0000053431	SNV	SMAD4,missense_variant,p.Val128Ala,ENST00000342988,;SMAD4,missense_variant,p.Val128Ala,ENST00000398417,;SMAD4,missense_variant,p.Val128Ala,ENST00000590061,;SMAD4,missense_variant,p.Val128Ala,ENST00000591914,;SMAD4,missense_variant,p.Val128Ala,ENST00000452201,;SMAD4,missense_variant,p.Val128Ala,ENST00000588745,;SMAD4,downstream_gene_variant,,ENST00000588860,;SMAD4,downstream_gene_variant,,ENST00000589941,;SMAD4,downstream_gene_variant,,ENST00000589076,;SMAD4,non_coding_transcript_exon_variant,,ENST00000592911,;RP11-729L2.2,downstream_gene_variant,,ENST00000588256,;SMAD4,missense_variant,p.Val128Ala,ENST00000592186,;RP11-729L2.2,3_prime_UTR_variant,,ENST00000590722,;SMAD4,non_coding_transcript_exon_variant,,ENST00000589706,;SMAD4,upstream_gene_variant,,ENST00000585448,;SMAD4,upstream_gene_variant,,ENST00000591126,;	921	157	91	SUCCESS
DYNAP	284254	.	GRCh37	18	52258515	52258515	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	126	0	ENST00000321600.1:c.80T>C	p.Met27Thr	p.M27T	ENST00000321600	NM_173629.1	27	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS11957.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAATGGACA	NONE	.	.	.	.	.	ENSP00000315265	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000321600	Transcript	.	.	ENSG00000178690	26808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	deleterious(0)	.	DYNAP_HUMAN	DYNAP	HGNC	.	.	UPI000006F69E	SNV	DYNAP,missense_variant,p.Met27Thr,ENST00000321600,;DYNAP,missense_variant,p.Met30Thr,ENST00000585973,;	126	126	88	SUCCESS
MC4R	4160	.	GRCh37	18	58039621	58039621	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	110	0	ENST00000299766.3:c.-39T>C		p.*13*	ENST00000299766	NM_005912.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11976.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTAACCTC	NONE	.	.	.	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,5_prime_UTR_variant,,ENST00000299766,;	381	110	92	SUCCESS
CLUL1	27098	.	GRCh37	18	627195	627195	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	48	193	1	ENST00000338387.7:c.522T>A	p.Asp174Glu	p.D174E	ENST00000338387	NM_199167.1	174	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS42405.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGCACA	NONE	.	.	hmmpanther:PTHR10970:SF2,hmmpanther:PTHR10970,Pfam_domain:PF01093,SMART_domains:SM00030	.	.	ENSP00000383449	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000400606	Transcript	.	.	ENSG00000079101	2096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	deleterious(0.03)	.	CLUL1_HUMAN	CLUL1	HGNC	.	.	UPI00000499ED	SNV	CLUL1,missense_variant,p.Asp174Glu,ENST00000579494,;CLUL1,missense_variant,p.Asp174Glu,ENST00000338387,;CLUL1,missense_variant,p.Asp226Glu,ENST00000540035,;CLUL1,missense_variant,p.Asp199Glu,ENST00000581619,;CLUL1,missense_variant,p.Asp174Glu,ENST00000400606,;CLUL1,non_coding_transcript_exon_variant,,ENST00000580436,;CLUL1,downstream_gene_variant,,ENST00000584370,;CLUL1,non_coding_transcript_exon_variant,,ENST00000584046,;	667	194	108	SUCCESS
SALL3	27164	.	GRCh37	18	76757080	76757080	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781275254	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	8	167	0	ENST00000537592.2:c.3661A>T	p.Asn1221Tyr	p.N1221Y	ENST00000537592	NM_171999.3	1221	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS12013.1	3661	MUTECT|MUSE	.	TCACTAACGGG	NONE	byFrequency	.	hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233	.	.	ENSP00000441823	.	3/3	.	.	.	.	.	.	.	.	rs781275254	3/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,missense_variant,p.Asn1016Tyr,ENST00000536229,;SALL3,missense_variant,p.Asn1221Tyr,ENST00000537592,;SALL3,missense_variant,p.Asn1149Tyr,ENST00000575389,;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	3661	167	140	SUCCESS
OR4F17	81099	.	GRCh37	19	111029	111029	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	22	0	ENST00000318050.3:c.351A>T	p.Ile117=	p.I117=	ENST00000318050	NM_001005240.1	117	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS32854.1	351	RADIA|VARSCANS	.	TATATAGCAAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF72,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000467301	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000585993	Transcript	.	.	ENSG00000176695	15381	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O4F17_HUMAN	OR4F17	HGNC	.	.	UPI0000041E2A	SNV	OR4F17,synonymous_variant,p.%3D,ENST00000318050,;OR4F17,synonymous_variant,p.%3D,ENST00000585993,;	490	22	40	SUCCESS
MRPL34	64981	.	GRCh37	19	17416638	17416638	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	rs768049713	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	31	0	ENST00000252602.1:c.-64del		p.*22*	ENST00000252602	NM_023937.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12356.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTCCAGGGCT	NONE	.	.	.	.	.	ENSP00000252602	.	1/2	.	.	.	.	.	.	.	.	rs768049713	1/2	PASS	ENST00000252602	Transcript	.	.	ENSG00000130312	14488	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RM34_HUMAN	MRPL34	HGNC	.	.	UPI00000467F0	deletion	MRPL34,splice_acceptor_variant,,ENST00000600434,;MRPL34,splice_acceptor_variant,,ENST00000595444,;MRPL34,splice_acceptor_variant,,ENST00000594999,;MRPL34,5_prime_UTR_variant,,ENST00000252602,;ABHD8,intron_variant,,ENST00000593489,;ABHD8,upstream_gene_variant,,ENST00000247706,;ABHD8,upstream_gene_variant,,ENST00000594194,;DDA1,upstream_gene_variant,,ENST00000359866,;MRPL34,upstream_gene_variant,,ENST00000602206,;DDA1,upstream_gene_variant,,ENST00000596925,;DDA1,upstream_gene_variant,,ENST00000596582,;DDA1,upstream_gene_variant,,ENST00000593466,;	162	31	36	SUCCESS
ZNF253	56242	.	GRCh37	19	20003048	20003048	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	61	129	0	ENST00000589717.1:c.992A>G	p.Lys331Arg	p.K331R	ENST00000589717	NM_021047.2	331	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS42532.1	992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAAGAGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000468720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	tolerated(0.08)	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,missense_variant,p.Lys255Arg,ENST00000355650,;ZNF253,missense_variant,p.Lys331Arg,ENST00000589717,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,downstream_gene_variant,,ENST00000585571,;	1084	129	118	SUCCESS
DMKN	93099	.	GRCh37	19	36003608	36003608	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	54	0	ENST00000339686.3:c.511C>A	p.Pro171Thr	p.P171T	ENST00000339686	NM_033317.4	171	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12463.1	511	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCACGGAGTCC	NONE	.	.	.	.	.	ENSP00000342012	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000339686	Transcript	.	.	ENSG00000161249	25063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	DMKN_HUMAN	DMKN	HGNC	R4GMQ0_HUMAN	.	UPI00002020EB	SNV	DMKN,missense_variant,p.Pro171Thr,ENST00000419602,;DMKN,missense_variant,p.Pro171Thr,ENST00000429837,;DMKN,missense_variant,p.Pro171Thr,ENST00000424570,;DMKN,missense_variant,p.Pro171Thr,ENST00000418261,;DMKN,missense_variant,p.Pro171Thr,ENST00000440396,;DMKN,missense_variant,p.Pro171Thr,ENST00000447113,;DMKN,missense_variant,p.Pro171Thr,ENST00000451297,;DMKN,missense_variant,p.Pro171Thr,ENST00000339686,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000414866,;DMKN,upstream_gene_variant,,ENST00000402589,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000436012,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000597212,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000480507,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000595571,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000488762,;	688	54	49	SUCCESS
KIRREL2	84063	.	GRCh37	19	36348363	36348363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	56	170	0	ENST00000360202.5:c.178G>A	p.Gly60Arg	p.G60R	ENST00000360202	NM_032123.5	60	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS12481.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGGGCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000353331	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000360202	Transcript	.	.	ENSG00000126259	18816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KIRR2_HUMAN	KIRREL2	HGNC	.	.	UPI0000366DD8	SNV	KIRREL2,missense_variant,p.Gly60Arg,ENST00000592409,;KIRREL2,missense_variant,p.Gly60Arg,ENST00000262625,;KIRREL2,missense_variant,p.Gly60Arg,ENST00000360202,;KIRREL2,missense_variant,p.Gly60Arg,ENST00000586102,;KIRREL2,intron_variant,,ENST00000347900,;NPHS1,intron_variant,,ENST00000591817,;	376	170	145	SUCCESS
EEF2	1938	.	GRCh37	19	3985424	3985436	+	5_prime_UTR_variant	5'UTR	DEL	GAGTCGCGCCGAG	GAGTCGCGCCGAG	-	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	GAGTCGCGCCGAG	GAGTCGCGCCGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	169	95	433	0	ENST00000309311.6:c.-58_-46del		p.*20*	ENST00000309311	NM_001961.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12117.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGCGAGTCGCGCCGAGGATGG	NONE	.	.	.	.	.	ENSP00000307940	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000309311	Transcript	1	.	ENSG00000167658	3214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EF2_HUMAN	EEF2	HGNC	Q8TA90_HUMAN,B4DMC6_HUMAN	.	UPI00001649F3	deletion	EEF2,5_prime_UTR_variant,,ENST00000309311,;SNORD37,upstream_gene_variant,,ENST00000384048,;EEF2,upstream_gene_variant,,ENST00000600720,;EEF2,non_coding_transcript_exon_variant,,ENST00000594885,;EEF2,upstream_gene_variant,,ENST00000598436,;EEF2,upstream_gene_variant,,ENST00000598182,;	32-44	433	264	SUCCESS
PNMAL1	0	.	GRCh37	19	46973527	46973527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	52	0	ENST00000313683.10:c.766C>A	p.Pro256Thr	p.P256T	ENST00000313683	NM_018215.3	256	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS33059.1	766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCACTG	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21,Pfam_domain:PF14893	.	.	ENSP00000318131	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	tolerated(0.37)	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,missense_variant,p.Pro256Thr,ENST00000438932,;PNMAL1,missense_variant,p.Pro256Thr,ENST00000313683,;PNMAL1,intron_variant,,ENST00000602246,;	1072	52	26	SUCCESS
ZNF347	84671	.	GRCh37	19	53652039	53652039	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1238297160	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	42	157	0	ENST00000334197.7:c.166A>G	p.Ile56Val	p.I56V	ENST00000334197	NM_032584.2	56	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54314.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAATACTGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000405218	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.49)	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,missense_variant,p.Ile57Val,ENST00000601469,;ZNF347,missense_variant,p.Ile57Val,ENST00000452676,;ZNF347,missense_variant,p.Ile20Val,ENST00000595967,;ZNF347,missense_variant,p.Ile56Val,ENST00000334197,;ZNF347,5_prime_UTR_variant,,ENST00000601804,;ZNF347,5_prime_UTR_variant,,ENST00000597183,;ZNF347,downstream_gene_variant,,ENST00000599096,;ZNF347,downstream_gene_variant,,ENST00000595710,;	596	157	119	SUCCESS
LILRB1	10859	.	GRCh37	19	55147659	55147659	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	56	0	ENST00000324602.7:c.1654-286T>C		p.*552*	ENST00000324602	NM_001278399.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATGGACG	NONE	.	.	.	.	.	ENSP00000401812	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000456337	Transcript	.	.	ENSG00000224730	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC009892.10	Clone_based_vega_gene	F2Z374_HUMAN	.	UPI000155D56E	SNV	AC009892.10,intron_variant,,ENST00000456337,;LILRB1,intron_variant,,ENST00000396317,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396331,;LILRB1,intron_variant,,ENST00000396315,;LILRB1,intron_variant,,ENST00000427581,;LILRB1,intron_variant,,ENST00000396327,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000434867,;LILRB1,intron_variant,,ENST00000324602,;LILRB1,intron_variant,,ENST00000396332,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,intron_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	.	56	46	SUCCESS
MUC16	94025	.	GRCh37	19	9086539	9086539	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs948867743	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	110	0	ENST00000397910.4:c.5276A>T	p.Asp1759Val	p.D1759V	ENST00000397910	NM_024690.2	1759	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS54212.1	5276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATCAGGA	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Asp1759Val,ENST00000397910,;	5480	110	82	SUCCESS
FLG	2312	.	GRCh37	1	152277558	152277558	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	39	112	0	ENST00000368799.1:c.9804A>T	p.Ala3268=	p.A3268=	ENST00000368799	NM_002016.1	3268	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30860.1	9804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCTGCAGA	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	9840	112	96	SUCCESS
NOS1AP	9722	.	GRCh37	1	162302830	162302830	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745608624	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	25	113	0	ENST00000361897.5:c.368C>A	p.Ser123Tyr	p.S123Y	ENST00000361897	NM_014697.2	123	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS1237.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCCCAAG	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00462,Gene3D:2.30.29.30,Pfam_domain:PF00640,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39,PROSITE_profiles:PS01179	.	.	ENSP00000355133	.	5/10	.	.	.	.	.	.	.	.	rs745608624	5/10	PASS	ENST00000361897	Transcript	.	.	ENSG00000198929	16859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAPON_HUMAN	NOS1AP	HGNC	H7BY61_HUMAN,E9PIP8_HUMAN	.	UPI000019C573	SNV	NOS1AP,missense_variant,p.Ser118Tyr,ENST00000530878,;NOS1AP,missense_variant,p.Ser123Tyr,ENST00000361897,;NOS1AP,missense_variant,p.Ser118Tyr,ENST00000430120,;	770	113	134	SUCCESS
AXDND1	126859	.	GRCh37	1	179497542	179497542	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	82	0	ENST00000367618.3:c.2691T>A	p.Phe897Leu	p.F897L	ENST00000367618	NM_144696.5	897	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS30948.1	2691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATTTGAAAC	NONE	.	.	hmmpanther:PTHR23052	.	.	ENSP00000356590	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000367618	Transcript	.	.	ENSG00000162779	26564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	tolerated(0.26)	.	AXDN1_HUMAN	AXDND1	HGNC	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	.	UPI000022AC91	SNV	AXDND1,missense_variant,p.Phe757Leu,ENST00000434088,;AXDND1,missense_variant,p.Phe897Leu,ENST00000367618,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484883,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	3078	82	95	SUCCESS
BRINP3	339479	.	GRCh37	1	190195446	190195446	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs747225844	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	50	72	0	ENST00000367462.3:c.727C>A	p.Leu243Ile	p.L243I	ENST00000367462	NM_199051.1	243	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS1373.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGCCCTT	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,SMART_domains:SM00457	.	.	ENSP00000356432	.	6/8	.	.	.	.	.	.	.	.	rs747225844	6/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Leu141Ile,ENST00000534846,;BRINP3,missense_variant,p.Leu243Ile,ENST00000367462,;BRINP3,upstream_gene_variant,,ENST00000463404,;	959	72	71	SUCCESS
RGS18	64407	.	GRCh37	1	192127859	192127859	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	758	212	782	0	ENST00000367460.3:c.92A>G	p.Glu31Gly	p.E31G	ENST00000367460	NM_130782.2	31	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1374.1	92	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAAGAAA	NONE	.	.	hmmpanther:PTHR10845:SF153,hmmpanther:PTHR10845	.	.	ENSP00000356430	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000367460	Transcript	.	.	ENSG00000150681	14261	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	RGS18_HUMAN	RGS18	HGNC	.	.	UPI0000044571	SNV	RGS18,missense_variant,p.Glu31Gly,ENST00000367460,;RGS18,non_coding_transcript_exon_variant,,ENST00000492967,;RGS18,non_coding_transcript_exon_variant,,ENST00000481707,;RGS18,non_coding_transcript_exon_variant,,ENST00000491030,;	273	782	970	SUCCESS
KIF17	57576	.	GRCh37	1	21011489	21011489	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754931904	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	47	177	0	ENST00000247986.2:c.2044G>T	p.Ala682Ser	p.A682S	ENST00000247986		682	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS213.1	2044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGCCACTT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415	.	.	ENSP00000247986	.	10/15	.	.	.	.	.	.	.	.	rs754931904	10/15	PASS	ENST00000247986	Transcript	.	.	ENSG00000117245	19167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.17)	.	KIF17_HUMAN	KIF17	HGNC	.	.	UPI0000185F1A	SNV	KIF17,missense_variant,p.Ala682Ser,ENST00000247986,;KIF17,missense_variant,p.Ala682Ser,ENST00000400463,;KIF17,missense_variant,p.Ala582Ser,ENST00000375044,;KIF17,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000498225,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;	2355	177	140	SUCCESS
PUM1	9698	.	GRCh37	1	31479854	31479854	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	64	0	ENST00000257075.5:c.528C>A	p.Ala176=	p.A176=	ENST00000257075	NM_014676.2	176	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44099.1	528	MUTECT|MUSE	.	CCCCAGGCACT	NONE	.	.	hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1	.	.	ENSP00000391723	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000426105	Transcript	.	.	ENSG00000134644	14957	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PUM1_HUMAN	PUM1	HGNC	E9PL65_HUMAN	.	UPI0000203D8E	SNV	PUM1,synonymous_variant,p.%3D,ENST00000426105,;PUM1,synonymous_variant,p.%3D,ENST00000257075,;PUM1,synonymous_variant,p.%3D,ENST00000525843,;PUM1,synonymous_variant,p.%3D,ENST00000373747,;PUM1,synonymous_variant,p.%3D,ENST00000440538,;PUM1,synonymous_variant,p.%3D,ENST00000373741,;PUM1,intron_variant,,ENST00000424085,;PUM1,intron_variant,,ENST00000423018,;PUM1,intron_variant,,ENST00000373742,;PUM1,3_prime_UTR_variant,,ENST00000525948,;PUM1,3_prime_UTR_variant,,ENST00000526215,;PUM1,3_prime_UTR_variant,,ENST00000480602,;	619	64	47	SUCCESS
DOCK7	85440	.	GRCh37	1	62923216	62923216	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	105	0	ENST00000340370.5:c.6280T>G	p.Cys2094Gly	p.C2094G	ENST00000340370	NM_033407.3	2094	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS30734.1	6280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGGTGA	NONE	.	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	48/49	.	.	.	.	.	.	.	.	.	48/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.29)	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,missense_variant,p.Cys2114Gly,ENST00000251157,;DOCK7,missense_variant,p.Cys2094Gly,ENST00000340370,;DOCK7,missense_variant,p.Cys1288Gly,ENST00000454575,;	6298	105	81	SUCCESS
XKR7	343702	.	GRCh37	20	30556420	30556420	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	26	0	ENST00000562532.2:c.442T>C	p.Phe148Leu	p.F148L	ENST00000562532	NM_001011718.1	148	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS33459.1	442	MUTECT|MUSE|VARSCANS	.	GCGCCTTCCGG	NONE	.	.	hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815	.	.	ENSP00000477059	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000562532	Transcript	.	.	ENSG00000260903	23062	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.67)	.	XKR7_HUMAN	XKR7	HGNC	.	.	UPI00004C7A9E	SNV	XKR7,missense_variant,p.Phe148Leu,ENST00000562532,;	616	26	21	SUCCESS
BACH1	571	.	GRCh37	21	30698823	30698823	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	131	0	ENST00000286800.3:c.678A>G	p.Lys226=	p.K226=	ENST00000286800	NM_001186.2	226	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS13585.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAATACAG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF176	.	.	ENSP00000382805	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000399921	Transcript	.	.	ENSG00000156273	935	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BACH1_HUMAN	BACH1	HGNC	Q6ICU0_HUMAN,F8VZL7_HUMAN,C9JMP6_HUMAN,C9IYR0_HUMAN,C9IYH8_HUMAN	.	UPI000012673F	SNV	BACH1,synonymous_variant,p.%3D,ENST00000286800,;BACH1,synonymous_variant,p.%3D,ENST00000399921,;BACH1,downstream_gene_variant,,ENST00000451655,;BACH1,upstream_gene_variant,,ENST00000468059,;BACH1,downstream_gene_variant,,ENST00000447177,;BACH1,upstream_gene_variant,,ENST00000422809,;BACH1,downstream_gene_variant,,ENST00000435072,;	921	131	92	SUCCESS
C21orf54	0	.	GRCh37	21	34540851	34540851	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	76	0	ENST00000451980.2:c.203A>T	p.Lys68Met	p.K68M	ENST00000451980		68	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	.	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCTTGAGC	NONE	.	.	.	.	.	ENSP00000407868	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000451980	Transcript	.	.	ENSG00000229086	1296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	.	.	CU054_HUMAN	C21orf54	HGNC	.	.	UPI000019783D	SNV	C21orf54,missense_variant,p.Lys68Met,ENST00000451980,;	270	76	72	SUCCESS
UBASH3A	53347	.	GRCh37	21	43829552	43829552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	82	0	ENST00000319294.6:c.189C>A	p.Asp63Glu	p.D63E	ENST00000319294	NM_018961.3	63	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS13687.1	189	MUTECT|MUSE|VARSCANS	.	AATGACCCTTC	NONE	.	.	hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF7,Gene3D:1.10.8.10,Superfamily_domains:SSF46934	.	.	ENSP00000317327	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000319294	Transcript	.	.	ENSG00000160185	12462	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UBS3A_HUMAN	UBASH3A	HGNC	.	.	UPI0000137941	SNV	UBASH3A,missense_variant,p.Asp63Glu,ENST00000450356,;UBASH3A,missense_variant,p.Asp63Glu,ENST00000319294,;UBASH3A,missense_variant,p.Asp63Glu,ENST00000398367,;UBASH3A,missense_variant,p.Asp63Glu,ENST00000291535,;UBASH3A,non_coding_transcript_exon_variant,,ENST00000473381,;	220	82	47	SUCCESS
COL6A1	1291	.	GRCh37	21	47412121	47412121	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765826390	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	82	0	ENST00000361866.3:c.1226C>T	p.Ala409Val	p.A409V	ENST00000361866	NM_001848.2	409	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13727.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGGGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF507,hmmpanther:PTHR24023	.	.	ENSP00000355180	.	17/35	.	.	.	.	.	.	.	.	rs765826390	17/35	PASS	ENST00000361866	Transcript	.	.	ENSG00000142156	2211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.26)	.	CO6A1_HUMAN	COL6A1	HGNC	Q05BT9_HUMAN	.	UPI000019B179	SNV	COL6A1,missense_variant,p.Ala409Val,ENST00000361866,;COL6A1,downstream_gene_variant,,ENST00000492851,;	1340	82	64	SUCCESS
RFPL3	10738	.	GRCh37	22	32754272	32754272	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	151	0	ENST00000249007.4:c.214C>A	p.His72Asn	p.H72N	ENST00000249007	NM_001098535.1	72	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS43011.1	214	RADIA|MUTECT|MUSE	.	AGCCCCATGGG	NONE	.	.	Superfamily_domains:SSF57850,Gene3D:3.30.40.10,Pfam_domain:PF15227,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,PROSITE_profiles:PS50089	.	.	ENSP00000249007	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000249007	Transcript	.	.	ENSG00000128276	9980	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.67)	.	RFPL3_HUMAN	RFPL3	HGNC	.	.	UPI000013CC68	SNV	RFPL3,missense_variant,p.His72Asn,ENST00000249007,;RFPL3,missense_variant,p.His43Asn,ENST00000397468,;RFPL3,missense_variant,p.His43Asn,ENST00000382088,;RFPL3S,downstream_gene_variant,,ENST00000400234,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	419	151	110	SUCCESS
POTEF	728378	.	GRCh37	2	130832582	130832582	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769410725	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	131	183	0	ENST00000357462.5:c.2463G>T	p.Gln821His	p.Q821H	ENST00000357462		821	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS46409.1	2463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTGGGT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000350052	.	15/15	.	.	.	.	.	.	.	.	rs769410725,COSM3566297	15/15	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.339)	.	deleterious_low_confidence(0)	0,1	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,missense_variant,p.Gln821His,ENST00000357462,;POTEF,missense_variant,p.Gln821His,ENST00000409914,;POTEF,downstream_gene_variant,,ENST00000361163,;POTEF,downstream_gene_variant,,ENST00000360967,;	2557	183	231	SUCCESS
TPO	7173	.	GRCh37	2	1437364	1437364	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	60	267	0	ENST00000329066.4:c.334T>C	p.Ser112Pro	p.S112P	ENST00000329066	NM_001206744.1	112	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS1643.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAATCACAG	NONE	.	.	hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Gene3D:1.10.640.10	.	.	ENSP00000318820	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.08)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Ser112Pro,ENST00000329066,;TPO,missense_variant,p.Ser112Pro,ENST00000539820,;TPO,missense_variant,p.Ser112Pro,ENST00000337415,;TPO,missense_variant,p.Ser112Pro,ENST00000382198,;TPO,missense_variant,p.Ser112Pro,ENST00000382201,;TPO,missense_variant,p.Ser112Pro,ENST00000382269,;TPO,missense_variant,p.Ser112Pro,ENST00000423320,;TPO,missense_variant,p.Ser112Pro,ENST00000349624,;TPO,missense_variant,p.Ser112Pro,ENST00000346956,;TPO,missense_variant,p.Ser41Pro,ENST00000422464,;TPO,missense_variant,p.Ser112Pro,ENST00000345913,;TPO,intron_variant,,ENST00000497517,;	425	267	209	SUCCESS
ACVR2A	92	.	GRCh37	2	148674942	148674942	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	77	249	0	ENST00000241416.7:c.763C>T	p.Arg255Ter	p.R255*	ENST00000241416	NM_001616.4	255	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS33301.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACGAGGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	6/11	.	.	.	.	.	.	.	.	COSM1399827	6/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,stop_gained,p.Arg255Ter,ENST00000241416,;ACVR2A,stop_gained,p.Arg255Ter,ENST00000404590,;ACVR2A,stop_gained,p.Arg147Ter,ENST00000535787,;	1399	249	275	SUCCESS
MYT1L	23040	.	GRCh37	2	1844609	1844609	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	50	0	ENST00000399161.2:c.2781A>T	p.Ser927=	p.S927=	ENST00000399161	NM_015025.2	927	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46222.1	2775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGAAAG	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000396103	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,synonymous_variant,p.%3D,ENST00000399161,;MYT1L,synonymous_variant,p.%3D,ENST00000428368,;MYT1L,5_prime_UTR_variant,,ENST00000407844,;MYT1L,upstream_gene_variant,,ENST00000399157,;MYT1L,non_coding_transcript_exon_variant,,ENST00000471668,;	3445	50	39	SUCCESS
PUM2	23369	.	GRCh37	2	20527092	20527092	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	86	0	ENST00000338086.5:c.30A>G	p.Leu10=	p.L10=	ENST00000338086	NM_015317.1	10	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1698.1	30	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTAATGC	NONE	.	.	hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537	.	.	ENSP00000338173	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000338086	Transcript	.	.	ENSG00000055917	14958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUM2_HUMAN	PUM2	HGNC	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN	.	UPI0000001665	SNV	PUM2,synonymous_variant,p.%3D,ENST00000403432,;PUM2,synonymous_variant,p.%3D,ENST00000442400,;PUM2,synonymous_variant,p.%3D,ENST00000361078,;PUM2,synonymous_variant,p.%3D,ENST00000424110,;PUM2,synonymous_variant,p.%3D,ENST00000338086,;PUM2,synonymous_variant,p.%3D,ENST00000319801,;PUM2,5_prime_UTR_variant,,ENST00000536417,;PUM2,non_coding_transcript_exon_variant,,ENST00000420234,;PUM2,synonymous_variant,p.%3D,ENST00000446940,;PUM2,synonymous_variant,p.%3D,ENST00000429419,;PUM2,synonymous_variant,p.%3D,ENST00000432105,;	53	87	46	SUCCESS
ATIC	471	.	GRCh37	2	216177020	216177020	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	20	0	ENST00000236959.9:c.19+136G>A		p.*7*	ENST00000236959	NM_004044.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2398.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGCCGGG	NONE	.	.	.	.	.	ENSP00000236959	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000236959	Transcript	.	.	ENSG00000138363	794	.	.	MODIFIER	1/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUR9_HUMAN	ATIC	HGNC	F5GWY2_HUMAN,C9JLK0_HUMAN	.	UPI000000122D	SNV	ATIC,5_prime_UTR_variant,,ENST00000540518,;ATIC,5_prime_UTR_variant,,ENST00000435675,;ATIC,intron_variant,,ENST00000236959,;ATIC,upstream_gene_variant,,ENST00000413174,;ATIC,3_prime_UTR_variant,,ENST00000443953,;ATIC,3_prime_UTR_variant,,ENST00000427397,;ATIC,intron_variant,,ENST00000488712,;ATIC,intron_variant,,ENST00000444305,;	.	20	18	SUCCESS
CHPF	79586	.	GRCh37	2	220408106	220408106	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	15	0	ENST00000243776.6:c.155C>G	p.Pro52Arg	p.P52R	ENST00000243776	NM_024536.5	52	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS2443.1	155	MUTECT|MUSE	.	CGCGCGGCGGC	NONE	.	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369	.	.	ENSP00000243776	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(0.56)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Pro52Arg,ENST00000243776,;CHPF,missense_variant,p.Pro52Arg,ENST00000373891,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,upstream_gene_variant,,ENST00000535926,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;RP11-256I23.1,downstream_gene_variant,,ENST00000596829,;ASIC4,downstream_gene_variant,,ENST00000474489,;	404	15	21	SUCCESS
D2HGDH	728294	.	GRCh37	2	242688333	242688333	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	30	0	ENST00000321264.4:c.854-1233C>T		p.*285*	ENST00000321264	NM_152783.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33426.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCGCAT	NONE	.	.	.	.	.	ENSP00000315351	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321264	Transcript	.	.	ENSG00000180902	28358	.	.	MODIFIER	6/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	D2HDH_HUMAN	D2HGDH	HGNC	B5MCV2_HUMAN,B3KP72_HUMAN	.	UPI0000456F51	SNV	D2HGDH,missense_variant,p.Pro303Ser,ENST00000537090,;D2HGDH,missense_variant,p.Pro31Ser,ENST00000432449,;D2HGDH,missense_variant,p.Pro303Ser,ENST00000342518,;D2HGDH,intron_variant,,ENST00000321264,;D2HGDH,intron_variant,,ENST00000454048,;D2HGDH,intron_variant,,ENST00000403782,;D2HGDH,intron_variant,,ENST00000437164,;D2HGDH,downstream_gene_variant,,ENST00000417686,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000467427,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000496252,;D2HGDH,upstream_gene_variant,,ENST00000486953,;D2HGDH,3_prime_UTR_variant,,ENST00000436747,;D2HGDH,intron_variant,,ENST00000400769,;D2HGDH,upstream_gene_variant,,ENST00000473126,;D2HGDH,upstream_gene_variant,,ENST00000470343,;	.	30	18	SUCCESS
DTNB	1838	.	GRCh37	2	25656837	25656837	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	33	129	0	ENST00000406818.3:c.1285A>T	p.Asn429Tyr	p.N429Y	ENST00000406818	NM_001256303.1	429	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS46237.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTAAAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204	.	.	ENSP00000384084	.	13/21	.	.	.	.	.	.	.	.	COSM3714180	13/21	PASS	ENST00000406818	Transcript	.	.	ENSG00000138101	3058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.13)	1	DTNB_HUMAN	DTNB	HGNC	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN	.	UPI0000129949	SNV	DTNB,missense_variant,p.Asn372Tyr,ENST00000496972,;DTNB,missense_variant,p.Asn399Tyr,ENST00000407186,;DTNB,missense_variant,p.Asn429Tyr,ENST00000406818,;DTNB,missense_variant,p.Asn399Tyr,ENST00000405222,;DTNB,missense_variant,p.Asn429Tyr,ENST00000404103,;DTNB,missense_variant,p.Asn429Tyr,ENST00000407661,;DTNB,missense_variant,p.Asn429Tyr,ENST00000288642,;DTNB,missense_variant,p.Asn399Tyr,ENST00000407038,;DTNB,missense_variant,p.Asn225Tyr,ENST00000545439,;DTNB,non_coding_transcript_exon_variant,,ENST00000481841,;DTNB,non_coding_transcript_exon_variant,,ENST00000486555,;DTNB,non_coding_transcript_exon_variant,,ENST00000489756,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,3_prime_UTR_variant,,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000482145,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;	1535	129	91	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656383	40656383	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760339904	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	59	95	1	ENST00000332839.4:c.1038A>G	p.Ile346Met	p.I346M	ENST00000332839	NM_021097.2	346	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1806.1	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTATTAA	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	rs760339904,COSM720987	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	tolerated(0.1)	0,1	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Ile346Met,ENST00000408028,;SLC8A1,missense_variant,p.Ile346Met,ENST00000406785,;SLC8A1,missense_variant,p.Ile346Met,ENST00000542024,;SLC8A1,missense_variant,p.Ile346Met,ENST00000403092,;SLC8A1,missense_variant,p.Ile346Met,ENST00000405269,;SLC8A1,missense_variant,p.Ile346Met,ENST00000332839,;SLC8A1,missense_variant,p.Ile346Met,ENST00000542756,;SLC8A1,missense_variant,p.Ile346Met,ENST00000406391,;SLC8A1,missense_variant,p.Ile346Met,ENST00000405901,;SLC8A1,missense_variant,p.Ile346Met,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,missense_variant,p.Ile343Met,ENST00000407929,;	1072	96	107	SUCCESS
PCBP1	5093	.	GRCh37	2	70314990	70314990	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	52	160	0	ENST00000303577.5:c.115A>C	p.Ile39Leu	p.I39L	ENST00000303577	NM_006196.3	39	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS1898.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGATCCGC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF96,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.09)	.	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	SNV	PCBP1,missense_variant,p.Ile39Leu,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;PCBP1-AS1,non_coding_transcript_exon_variant,,ENST00000423402,;PCBP1-AS1,intron_variant,,ENST00000596028,;PCBP1-AS1,intron_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;	406	160	204	SUCCESS
CD8A	925	.	GRCh37	2	87018067	87018067	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	16	0	ENST00000283635.3:c.-119G>T		p.*40*	ENST00000283635	NM_001768.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1992.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCGCATT	NONE	.	.	.	.	.	ENSP00000386559	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000409511	Transcript	.	.	ENSG00000153563	1706	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD8A_HUMAN	CD8A	HGNC	.	.	UPI00001273B4	SNV	CD8A,missense_variant,p.Arg2Leu,ENST00000538832,;CD8A,5_prime_UTR_variant,,ENST00000456996,;CD8A,5_prime_UTR_variant,,ENST00000409511,;CD8A,5_prime_UTR_variant,,ENST00000283635,;CD8A,upstream_gene_variant,,ENST00000352580,;CD8A,upstream_gene_variant,,ENST00000409781,;	913	16	23	SUCCESS
FER1L5	90342	.	GRCh37	2	97361484	97361484	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	61	99	1	ENST00000397978.2:n.211G>T		p.*71*	ENST00000397978				0	.	.	.	.	.	T	.	retained_intron	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATGCCGAC	NONE	.	.	.	.	.	.	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000397978,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;	3403	100	103	SUCCESS
ATP2B2	491	.	GRCh37	3	10392219	10392219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	39	0	ENST00000352432.4:c.2179G>T	p.Val727Phe	p.V727F	ENST00000352432		727	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS33701.1	2179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGACCGTGA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00702,Gene3D:1.20.1110.10,Superfamily_domains:SSF56784,Prints_domain:PR00119	.	.	ENSP00000353414	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Val713Phe,ENST00000343816,;ATP2B2,missense_variant,p.Val727Phe,ENST00000360273,;ATP2B2,missense_variant,p.Val682Phe,ENST00000383800,;ATP2B2,missense_variant,p.Val727Phe,ENST00000352432,;ATP2B2,missense_variant,p.Val682Phe,ENST00000397077,;ATP2B2,missense_variant,p.Val583Phe,ENST00000452124,;ATP2B2,missense_variant,p.Val682Phe,ENST00000460129,;	2618	39	41	SUCCESS
SLC9C1	285335	.	GRCh37	3	111993747	111993747	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	86	291	0	ENST00000305815.5:c.610T>A	p.Leu204Ile	p.L204I	ENST00000305815	NM_183061.1	204	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS33817.1	610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAAGGTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Pfam_domain:PF00999	.	.	ENSP00000306627	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	tolerated(0.33)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Leu204Ile,ENST00000487372,;SLC9C1,missense_variant,p.Leu204Ile,ENST00000305815,;SLC9C1,downstream_gene_variant,,ENST00000486574,;SLC9C1,downstream_gene_variant,,ENST00000467397,;SLC9C1,missense_variant,p.Leu204Ile,ENST00000471295,;	863	291	273	SUCCESS
SEC61A1	29927	.	GRCh37	3	127788431	127788431	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1559800207	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	41	82	0	ENST00000243253.3:c.1357A>G	p.Ile453Val	p.I453V	ENST00000243253	NM_013336.3	453	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3046.1	1357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAATCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10906,Gene3D:1.10.3370.10,TIGRFAM_domain:TIGR00967,Pfam_domain:PF00344,PIRSF_domain:PIRSF004557,Superfamily_domains:0043235	.	.	ENSP00000243253	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000243253	Transcript	.	.	ENSG00000058262	18276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.203)	.	tolerated(0.08)	.	S61A1_HUMAN	SEC61A1	HGNC	B3KNG2_HUMAN,C9JXC6_HUMAN,B3KNF6_HUMAN,B3KME8_HUMAN	.	UPI00000041A9	SNV	SEC61A1,missense_variant,p.Ile333Val,ENST00000424880,;SEC61A1,missense_variant,p.Ile453Val,ENST00000243253,;SEC61A1,missense_variant,p.Ile459Val,ENST00000464451,;RUVBL1,intron_variant,,ENST00000472125,;RUVBL1,intron_variant,,ENST00000464873,;SEC61A1,non_coding_transcript_exon_variant,,ENST00000498837,;SEC61A1,non_coding_transcript_exon_variant,,ENST00000483956,;RUVBL1,intron_variant,,ENST00000585057,;	1541	82	69	SUCCESS
MBD4	8930	.	GRCh37	3	129150366	129150366	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs370417942	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	56	0	ENST00000249910.1:c.1721A>T	p.His574Leu	p.H574L	ENST00000249910		574	cAt/cTt	0	A:0	.	.	.	.	A	H/L	protein_coding	YES	CCDS3058.1	1721	MUTECT|MUSE|VARSCANS	.	TTTCATGATTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15074,hmmpanther:PTHR15074:SF2,Gene3D:1.10.340.30,PIRSF_domain:PIRSF038005,Superfamily_domains:SSF48150	.	A:0.0001	ENSP00000249910	.	8/8	.	.	.	.	.	.	.	.	rs370417942	8/8	PASS	ENST00000249910	Transcript	.	.	ENSG00000129071	6919	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.64)	.	deleterious(0.01)	.	MBD4_HUMAN	MBD4	HGNC	.	.	UPI0000073E6A	SNV	MBD4,missense_variant,p.His256Leu,ENST00000393278,;MBD4,missense_variant,p.His574Leu,ENST00000249910,;MBD4,missense_variant,p.His568Leu,ENST00000429544,;MBD4,3_prime_UTR_variant,,ENST00000503197,;EFCAB12,upstream_gene_variant,,ENST00000503957,;EFCAB12,upstream_gene_variant,,ENST00000505956,;MBD4,downstream_gene_variant,,ENST00000507208,;EFCAB12,upstream_gene_variant,,ENST00000326085,;MBD4,downstream_gene_variant,,ENST00000509587,;MBD4,3_prime_UTR_variant,,ENST00000509828,;MBD4,downstream_gene_variant,,ENST00000515266,;MBD4,downstream_gene_variant,,ENST00000511009,;	1897	56	48	SUCCESS
UBA5	79876	.	GRCh37	3	132389819	132389819	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	101	0	ENST00000356232.4:c.505T>G	p.Leu169Val	p.L169V	ENST00000356232	NM_024818.3	169	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3076.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGTTAGAA	NONE	.	.	Superfamily_domains:SSF69572,Pfam_domain:PF00899,Gene3D:3.40.50.720,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF9	.	.	ENSP00000348565	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000356232	Transcript	.	.	ENSG00000081307	23230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.19)	.	UBA5_HUMAN	UBA5	HGNC	E7EQ61_HUMAN,C9J5W5_HUMAN,C9J0F6_HUMAN	.	UPI0000037C4F	SNV	UBA5,missense_variant,p.Leu79Val,ENST00000464068,;UBA5,missense_variant,p.Leu169Val,ENST00000473651,;UBA5,missense_variant,p.Leu169Val,ENST00000493720,;UBA5,missense_variant,p.Leu169Val,ENST00000356232,;UBA5,missense_variant,p.Leu113Val,ENST00000494238,;UBA5,missense_variant,p.Leu113Val,ENST00000264991,;UBA5,downstream_gene_variant,,ENST00000489361,;UBA5,downstream_gene_variant,,ENST00000468022,;UBA5,3_prime_UTR_variant,,ENST00000505777,;UBA5,non_coding_transcript_exon_variant,,ENST00000468227,;UBA5,non_coding_transcript_exon_variant,,ENST00000469158,;NPHP3,intron_variant,,ENST00000471702,;UBA5,downstream_gene_variant,,ENST00000464101,;UBA5,upstream_gene_variant,,ENST00000494112,;	1577	101	113	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913412	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	91	166	0	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2694.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTACCACA	SITE|p.T41A|c.121A>G|828,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T40I|c.119C>T|11,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5664,COSM5688,COSM5716	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	401	166	158	SUCCESS
LAMB2	3913	.	GRCh37	3	49161489	49161489	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747064604	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	41	0	ENST00000305544.4:c.3469C>T	p.Arg1157Cys	p.R1157C	ENST00000305544		1157	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2789.1	3469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGGTGAC	NONE	byFrequency	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF36,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196,Prints_domain:PR00011	.	.	ENSP00000388325	.	25/33	.	.	.	.	.	.	.	.	rs747064604	25/33	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	SNV	LAMB2,missense_variant,p.Arg1157Cys,ENST00000305544,;LAMB2,missense_variant,p.Arg1157Cys,ENST00000418109,;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000453664,;USP19,upstream_gene_variant,,ENST00000434032,;USP19,upstream_gene_variant,,ENST00000398888,;USP19,upstream_gene_variant,,ENST00000398898,;USP19,upstream_gene_variant,,ENST00000306026,;USP19,upstream_gene_variant,,ENST00000488993,;LAMB2,downstream_gene_variant,,ENST00000464891,;LAMB2,downstream_gene_variant,,ENST00000486298,;USP19,upstream_gene_variant,,ENST00000491859,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,non_coding_transcript_exon_variant,,ENST00000480640,;LAMB2,non_coding_transcript_exon_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,downstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,downstream_gene_variant,,ENST00000477701,;LAMB2,downstream_gene_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,downstream_gene_variant,,ENST00000542580,;LAMB2,downstream_gene_variant,,ENST00000493571,;LAMB2,downstream_gene_variant,,ENST00000483057,;	3634	41	52	SUCCESS
APEH	327	.	GRCh37	3	49711824	49711824	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	43	46	0	ENST00000296456.5:c.-11G>T		p.*4*	ENST00000296456	NM_001640.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2801.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGAGAGG	NONE	.	.	.	.	.	ENSP00000296456	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000296456	Transcript	.	.	ENSG00000164062	586	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACPH_HUMAN	APEH	HGNC	C9JLK2_HUMAN	.	UPI00000735A1	SNV	APEH,stop_gained,p.Glu9Ter,ENST00000442186,;APEH,5_prime_UTR_variant,,ENST00000296456,;APEH,5_prime_UTR_variant,,ENST00000438011,;APEH,intron_variant,,ENST00000449966,;APEH,upstream_gene_variant,,ENST00000457042,;BSN,downstream_gene_variant,,ENST00000296452,;APEH,5_prime_UTR_variant,,ENST00000447436,;APEH,5_prime_UTR_variant,,ENST00000446089,;APEH,non_coding_transcript_exon_variant,,ENST00000463995,;APEH,non_coding_transcript_exon_variant,,ENST00000491799,;APEH,non_coding_transcript_exon_variant,,ENST00000462439,;APEH,intron_variant,,ENST00000483715,;APEH,upstream_gene_variant,,ENST00000463616,;APEH,upstream_gene_variant,,ENST00000447541,;APEH,upstream_gene_variant,,ENST00000469362,;APEH,upstream_gene_variant,,ENST00000482301,;	390	46	58	SUCCESS
RAD18	56852	.	GRCh37	3	8988966	8988966	+	synonymous_variant	Silent	SNP	T	T	A	rs761228149	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	125	0	ENST00000264926.2:c.204A>T	p.Thr68=	p.T68=	ENST00000264926	NM_020165.3	68	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2571.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTGTGAC	NONE	byFrequency	.	hmmpanther:PTHR14134,hmmpanther:PTHR14134:SF2,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000264926	.	4/13	.	.	.	.	.	.	.	.	rs761228149	4/13	PASS	ENST00000264926	Transcript	.	.	ENSG00000070950	18278	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAD18_HUMAN	RAD18	HGNC	H7C0A5_HUMAN,C9J0Q4_HUMAN	.	UPI000013D592	SNV	RAD18,synonymous_variant,p.%3D,ENST00000264926,;RAD18,synonymous_variant,p.%3D,ENST00000413832,;RAD18,non_coding_transcript_exon_variant,,ENST00000495087,;RAD18,stop_gained,p.Arg48Ter,ENST00000418463,;RAD18,synonymous_variant,p.%3D,ENST00000421052,;RAD18,synonymous_variant,p.%3D,ENST00000415439,;RAD18,non_coding_transcript_exon_variant,,ENST00000469793,;	321	125	128	SUCCESS
ADH1A	124	.	GRCh37	4	100201407	100201407	+	synonymous_variant	Silent	SNP	T	T	C	rs767498317	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	130	0	ENST00000209668.2:c.858A>G	p.Ala286=	p.A286=	ENST00000209668	NM_000667.3	286	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3648.1	858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGCCTC	NONE	byFrequency	.	Superfamily_domains:SSF51735,SMART_domains:SM00829,Gene3D:3.40.50.720,Pfam_domain:PF00107,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376	.	.	ENSP00000209668	.	7/9	.	.	.	.	.	.	.	.	rs767498317	7/9	PASS	ENST00000209668	Transcript	.	.	ENSG00000187758	249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADH1A_HUMAN	ADH1A	HGNC	.	.	UPI0000062219	SNV	ADH1A,synonymous_variant,p.%3D,ENST00000209668,;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,intron_variant,,ENST00000506160,;ADH1A,downstream_gene_variant,,ENST00000503461,;	972	130	73	SUCCESS
PET112	0	.	GRCh37	4	152682142	152682142	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs769105211	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	72	0	ENST00000263985.6:c.-8G>T		p.*3*	ENST00000263985	NM_004564.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3776.1	.	MUTECT|MUSE	.	TAACTCCAGGG	NONE	.	.	.	.	.	ENSP00000263985	.	1/13	.	.	.	.	.	.	.	.	rs769105211	1/13	PASS	ENST00000263985	Transcript	.	.	ENSG00000059691	8849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GATB_HUMAN	PET112	HGNC	.	.	UPI000012B14C	SNV	PET112,5_prime_UTR_variant,,ENST00000515812,;PET112,5_prime_UTR_variant,,ENST00000508611,;PET112,5_prime_UTR_variant,,ENST00000263985,;PET112,upstream_gene_variant,,ENST00000512306,;PET112,upstream_gene_variant,,ENST00000511538,;PET112,upstream_gene_variant,,ENST00000503160,;PET112,upstream_gene_variant,,ENST00000515884,;	34	72	61	SUCCESS
DCHS2	54798	.	GRCh37	4	155411056	155411056	+	synonymous_variant	Silent	SNP	G	G	A	rs770299875	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	50	0	ENST00000339452.1:c.1452C>T	p.Gly484=	p.G484=	ENST00000339452	NM_001142552.1	484	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	.	CCDS47151.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGCCGCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF262,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000395539	.	1/2	.	.	.	.	.	.	.	.	rs770299875	1/2	PASS	ENST00000443500	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DCHS2	HGNC	Q6V1P8_HUMAN,E9PG03_HUMAN	.	UPI0001881B4E	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000443500,;DCHS2,synonymous_variant,p.%3D,ENST00000339452,;DCHS2,synonymous_variant,p.%3D,ENST00000456341,;	1875	50	46	SUCCESS
WDR17	116966	.	GRCh37	4	177056301	177056301	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140987021	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	100	316	0	ENST00000280190.4:c.1213G>A	p.Asp405Asn	p.D405N	ENST00000280190		405	Gat/Aat	0	A:0	.	.	.	.	A	D/N	protein_coding	YES	CCDS3825.1	1213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGATCCT	NONE	byCluster	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	A:0.0001	ENSP00000280190	.	9/31	.	.	.	.	.	.	.	.	rs140987021,COSM3726448	9/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.05)	.	tolerated(0.83)	0,1	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Asp388Asn,ENST00000507824,;WDR17,missense_variant,p.Asp154Asn,ENST00000505894,;WDR17,missense_variant,p.Asp405Asn,ENST00000280190,;WDR17,missense_variant,p.Asp381Asn,ENST00000508596,;WDR17,missense_variant,p.Asp381Asn,ENST00000393643,;	1369	316	273	SUCCESS
ZFP42	132625	.	GRCh37	4	188924482	188924482	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	30	73	0	ENST00000326866.4:c.521A>T	p.Lys174Met	p.K174M	ENST00000326866	NM_174900.3	174	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS3849.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAAGAAGC	NONE	.	.	hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.46)	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,missense_variant,p.Lys174Met,ENST00000326866,;ZFP42,missense_variant,p.Lys174Met,ENST00000509524,;	929	73	61	SUCCESS
GC	2638	.	GRCh37	4	72649749	72649749	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	83	348	0	ENST00000273951.8:c.-14T>A		p.*5*	ENST00000273951	NM_001204306.1	15		0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS56332.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGAGTCTT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000421725	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000504199	Transcript	1	.	ENSG00000145321	4187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.431)	.	tolerated_low_confidence(0.22)	.	VTDB_HUMAN	GC	HGNC	D6RF20_HUMAN	.	UPI0001D3B4EE	SNV	GC,missense_variant,p.Leu15His,ENST00000504199,;GC,5_prime_UTR_variant,,ENST00000273951,;GC,5_prime_UTR_variant,,ENST00000513476,;GC,5_prime_UTR_variant,,ENST00000506245,;GC,5_prime_UTR_variant,,ENST00000509740,;	139	348	235	SUCCESS
ALB	213	.	GRCh37	4	74275109	74275109	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	60	289	0	ENST00000295897.4:c.520T>C	p.Tyr174His	p.Y174H	ENST00000295897	NM_000477.5	174	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS3555.1	520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTTATGCC	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0.05)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Tyr174His,ENST00000509063,;ALB,missense_variant,p.Tyr19His,ENST00000511370,;ALB,missense_variant,p.Tyr174His,ENST00000295897,;ALB,missense_variant,p.Tyr176His,ENST00000441319,;ALB,missense_variant,p.Tyr24His,ENST00000503124,;ALB,missense_variant,p.Tyr59His,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,synonymous_variant,p.%3D,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	609	289	171	SUCCESS
DSPP	1834	.	GRCh37	4	88533640	88533640	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	115	425	0	ENST00000282478.7:c.302A>T	p.Asn101Ile	p.N101I	ENST00000282478		101	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS43248.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAACGAAG	NONE	.	.	.	.	.	ENSP00000382213	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,missense_variant,p.Asn101Ile,ENST00000282478,;DSPP,missense_variant,p.Asn101Ile,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	422	425	308	SUCCESS
PSD2	84249	.	GRCh37	5	139213348	139213348	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1230507306	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	73	0	ENST00000274710.3:c.1331G>A	p.Gly444Asp	p.G444D	ENST00000274710	NM_032289.2	444	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4216.1	1331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGCCAAG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000274710	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Gly444Asp,ENST00000274710,;	1536	73	102	SUCCESS
ZCCHC9	84240	.	GRCh37	5	80604841	80604841	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	63	137	0	ENST00000254037.2:c.612A>G	p.Lys204=	p.K204=	ENST00000254037		204	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS4054.1	612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAAGGACT	NONE	.	.	hmmpanther:PTHR23002,Gene3D:4.10.60.10,Superfamily_domains:SSF57756	.	.	ENSP00000254037	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000254037	Transcript	.	.	ENSG00000131732	25424	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC9_HUMAN	ZCCHC9	HGNC	.	.	UPI0000072279	SNV	ZCCHC9,synonymous_variant,p.%3D,ENST00000438268,;ZCCHC9,synonymous_variant,p.%3D,ENST00000254037,;ZCCHC9,synonymous_variant,p.%3D,ENST00000407610,;ZCCHC9,synonymous_variant,p.%3D,ENST00000380199,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000506458,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000507402,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000510227,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000504502,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000505860,;	3767	137	110	SUCCESS
POPDC3	64208	.	GRCh37	6	105606625	105606625	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	8	149	1	ENST00000254765.3:c.596T>A	p.Val199Glu	p.V199E	ENST00000254765	NM_022361.4	199	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS5052.1	596	MUTECT|MUSE|VARSCANS	.	GGGTTACCTAA	NONE	.	.	hmmpanther:PTHR12101:SF18,hmmpanther:PTHR12101,Pfam_domain:PF04831,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000254765	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254765	Transcript	.	.	ENSG00000132429	17649	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	POPD3_HUMAN	POPDC3	HGNC	.	.	UPI000006FA58	SNV	POPDC3,missense_variant,p.Val45Glu,ENST00000429112,;POPDC3,missense_variant,p.Val199Glu,ENST00000254765,;BVES-AS1,intron_variant,,ENST00000580511,;BVES-AS1,intron_variant,,ENST00000369120,;BVES-AS1,intron_variant,,ENST00000369122,;BVES-AS1,intron_variant,,ENST00000580854,;POPDC3,splice_region_variant,,ENST00000474760,;POPDC3,splice_region_variant,,ENST00000489134,;	875	150	105	SUCCESS
FUCA2	2519	.	GRCh37	6	143818299	143818299	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	13	0	ENST00000002165.6:c.1263+227T>C		p.*421*	ENST00000002165	NM_032020.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5200.1	.	MUTECT|MUSE	.	TTGCTATGTTG	NONE	.	.	.	.	.	ENSP00000002165	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000002165	Transcript	.	.	ENSG00000001036	4008	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUCO2_HUMAN	FUCA2	HGNC	.	.	UPI0000073C10	SNV	FUCA2,3_prime_UTR_variant,,ENST00000451668,;FUCA2,3_prime_UTR_variant,,ENST00000438118,;FUCA2,intron_variant,,ENST00000002165,;RP1-20N2.6,intron_variant,,ENST00000610068,;RP1-20N2.6,intron_variant,,ENST00000591892,;RP1-20N2.6,intron_variant,,ENST00000589563,;FUCA2,downstream_gene_variant,,ENST00000367585,;	.	13	12	SUCCESS
TULP4	56995	.	GRCh37	6	158924282	158924282	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	32	90	0	ENST00000367097.3:c.3587A>G	p.Asn1196Ser	p.N1196S	ENST00000367097	NM_020245.4	1196	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34561.1	3587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATAACAACC	NONE	.	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2	.	.	ENSP00000356064	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000367097	Transcript	.	.	ENSG00000130338	15530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	TULP4_HUMAN	TULP4	HGNC	.	.	UPI000013CD76	SNV	TULP4,missense_variant,p.Asn1196Ser,ENST00000367097,;TULP4,intron_variant,,ENST00000367094,;	4944	90	69	SUCCESS
HSPA1A	3303	.	GRCh37	6	31783298	31783298	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	28	0	ENST00000375651.5:c.-236C>T		p.*79*	ENST00000375651	NM_005345.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34414.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCCCAGG	NONE	.	.	.	.	.	ENSP00000364802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375651	Transcript	.	.	ENSG00000204389	5232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSP71_HUMAN	HSPA1A	HGNC	A8K5I0_HUMAN	.	UPI0000000C40	SNV	HSPA1A,5_prime_UTR_variant,,ENST00000375651,;HSPA1L,intron_variant,,ENST00000417199,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000608703,;HSPA1L,upstream_gene_variant,,ENST00000375654,;	8	28	18	SUCCESS
ZNF451	26036	.	GRCh37	6	56966810	56966810	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	166	0	ENST00000370706.4:c.186+2871A>C		p.*62*	ENST00000370706	NM_001031623.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43477.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAAGGGGA	NONE	.	.	.	.	.	ENSP00000359740	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Lys532Asn,ENST00000370708,;ZNF451,intron_variant,,ENST00000370706,;ZNF451,intron_variant,,ENST00000370702,;ZNF451,intron_variant,,ENST00000357489,;ZNF451,intron_variant,,ENST00000510483,;ZNF451,intron_variant,,ENST00000515290,;ZNF451,intron_variant,,ENST00000491832,;ZNF451,downstream_gene_variant,,ENST00000370710,;ZNF451,downstream_gene_variant,,ENST00000508603,;ZNF451,intron_variant,,ENST00000509071,;ZNF451,upstream_gene_variant,,ENST00000509251,;ZNF451,downstream_gene_variant,,ENST00000510989,;ZNF451,intron_variant,,ENST00000502749,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,intron_variant,,ENST00000370711,;ZNF451,intron_variant,,ENST00000444273,;	.	166	106	SUCCESS
CNOT4	4850	.	GRCh37	7	135080633	135080633	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	106	0	ENST00000315544.5:c.882A>T		p.X294_splice	ENST00000315544	NM_001190848.1	294	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS55165.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGATATCTG	NONE	.	.	hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2	.	.	ENSP00000445508	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	SNV	CNOT4,synonymous_variant,p.%3D,ENST00000356162,;CNOT4,synonymous_variant,p.%3D,ENST00000541284,;CNOT4,synonymous_variant,p.%3D,ENST00000451834,;CNOT4,synonymous_variant,p.%3D,ENST00000414802,;CNOT4,synonymous_variant,p.%3D,ENST00000423368,;CNOT4,synonymous_variant,p.%3D,ENST00000361528,;CNOT4,synonymous_variant,p.%3D,ENST00000428680,;CNOT4,synonymous_variant,p.%3D,ENST00000315544,;	1213	106	84	SUCCESS
TBXAS1	6916	.	GRCh37	7	139719869	139719869	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	57	0	ENST00000336425.5:c.1572T>C	p.Asn524=	p.N524=	ENST00000336425		524	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS55174.1	1713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATGGTGT	NONE	.	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24301:SF2,hmmpanther:PTHR24301	.	.	ENSP00000389414	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000416849	Transcript	.	.	ENSG00000059377	11609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TBXAS1	HGNC	F8WD37_HUMAN,E7EP08_HUMAN,C9JS68_HUMAN,C9J8N6_HUMAN	.	UPI0001AE7134	SNV	TBXAS1,synonymous_variant,p.%3D,ENST00000436047,;TBXAS1,synonymous_variant,p.%3D,ENST00000458722,;TBXAS1,synonymous_variant,p.%3D,ENST00000425687,;TBXAS1,synonymous_variant,p.%3D,ENST00000448866,;TBXAS1,synonymous_variant,p.%3D,ENST00000263552,;TBXAS1,synonymous_variant,p.%3D,ENST00000336425,;TBXAS1,synonymous_variant,p.%3D,ENST00000416849,;TBXAS1,3_prime_UTR_variant,,ENST00000414508,;TBXAS1,3_prime_UTR_variant,,ENST00000411653,;PARP12,downstream_gene_variant,,ENST00000489809,;PARP12,downstream_gene_variant,,ENST00000263549,;TBXAS1,downstream_gene_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,;PARP12,downstream_gene_variant,,ENST00000473341,;PARP12,downstream_gene_variant,,ENST00000491598,;PARP12,downstream_gene_variant,,ENST00000488726,;	1948	57	45	SUCCESS
ZBED6CL	113763	.	GRCh37	7	150027750	150027750	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	61	0	ENST00000343855.4:c.257A>C	p.Glu86Ala	p.E86A	ENST00000343855	NM_138434.2	86	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS5900.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGAGGCCA	NONE	.	.	hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF10	.	.	ENSP00000343242	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343855	Transcript	.	.	ENSG00000188707	21720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	ZB6CL_HUMAN	ZBED6CL	HGNC	.	.	UPI0000070AA6	SNV	ZBED6CL,missense_variant,p.Glu86Ala,ENST00000343855,;LRRC61,intron_variant,,ENST00000493307,;LRRC61,intron_variant,,ENST00000359623,;LRRC61,intron_variant,,ENST00000323078,;LRRC61,downstream_gene_variant,,ENST00000463441,;LRRC61,downstream_gene_variant,,ENST00000471872,;	813	61	65	SUCCESS
IKZF1	10320	.	GRCh37	7	50455094	50455094	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	104	385	0	ENST00000331340.3:c.641G>T	p.Ser214Ile	p.S214I	ENST00000331340	NM_006060.4	214	aGc/aTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59055.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGAAGCTCTT	CODON|p.?|c.1-?_850+?del|74,CODON|p.?|c.161-?_1560+?del|29,CODON|p.?|c.161-?_850+?del|163	.	.	.	.	.	ENSP00000413025	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.Ser214Ile,ENST00000331340,;IKZF1,missense_variant,p.Ser127Ile,ENST00000343574,;IKZF1,missense_variant,p.Ser127Ile,ENST00000438033,;IKZF1,intron_variant,,ENST00000349824,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,intron_variant,,ENST00000440768,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,intron_variant,,ENST00000357364,;IKZF1,intron_variant,,ENST00000359197,;IKZF1,intron_variant,,ENST00000439701,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	.	385	258	SUCCESS
ZNF733P	643955	.	GRCh37	7	62752277	62752277	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	43	195	0	ENST00000444809.1:n.1192A>G		p.*398*	ENST00000444809				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAGTAAGTG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000444809	Transcript	.	.	ENSG00000185037	32473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF733P	HGNC	.	.	.	SNV	ZNF733P,non_coding_transcript_exon_variant,,ENST00000331425,;ZNF733P,non_coding_transcript_exon_variant,,ENST00000444809,;	1192	195	126	SUCCESS
PCLO	27445	.	GRCh37	7	82584094	82584094	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs773729844	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	84	0	ENST00000333891.9:c.6175C>G	p.Leu2059Val	p.L2059V	ENST00000333891	NM_033026.5	2059	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS47630.1	6175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTAGTAGTT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	rs773729844	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Leu2059Val,ENST00000333891,;PCLO,missense_variant,p.Leu2059Val,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	6513	84	73	SUCCESS
SEMA3E	9723	.	GRCh37	7	83037763	83037763	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	154	0	ENST00000307792.3:c.591C>G	p.Ser197Arg	p.S197R	ENST00000307792	NM_012431.2	197	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS34674.1	591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGCTCCA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000303212	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Ser137Arg,ENST00000427262,;SEMA3E,missense_variant,p.Ser197Arg,ENST00000307792,;SEMA3E,missense_variant,p.Ser137Arg,ENST00000442159,;	1059	154	103	SUCCESS
SLC30A8	169026	.	GRCh37	8	118159055	118159055	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	47	37	0	ENST00000456015.2:c.72-138T>A		p.*24*	ENST00000456015	NM_173851.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6322.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGTAGAAG	NONE	.	.	.	.	.	ENSP00000415011	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,splice_region_variant,,ENST00000427715,;SLC30A8,splice_region_variant,,ENST00000519688,;SLC30A8,splice_region_variant,,ENST00000521243,;SLC30A8,splice_region_variant,,ENST00000524274,;SLC30A8,intron_variant,,ENST00000456015,;SLC30A8,splice_region_variant,,ENST00000521035,;SLC30A8,splice_region_variant,,ENST00000518396,;SLC30A8,intron_variant,,ENST00000520469,;SLC30A8,intron_variant,,ENST00000518521,;	.	37	92	SUCCESS
EEF1D	1936	.	GRCh37	8	144663449	144663449	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	128	84	0	ENST00000317198.6:c.239T>C	p.Leu80Pro	p.L80P	ENST00000317198	NM_001130057.2	80	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6404.1	1337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACGAGCTCA	NONE	.	.	hmmpanther:PTHR11595,hmmpanther:PTHR11595:SF20	.	.	ENSP00000410059	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000423316	Transcript	.	.	ENSG00000104529	3211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	EF1D_HUMAN	EEF1D	HGNC	E9PRL0_HUMAN,E9PQR8_HUMAN,E9PQC9_HUMAN,E9PQ49_HUMAN,E9PPY1_HUMAN,E9PPR1_HUMAN,E9PNW6_HUMAN,E9PNC8_HUMAN,E9PN71_HUMAN,E9PN56_HUMAN,E9PMW7_HUMAN,E9PM66_HUMAN,E9PLT8_HUMAN,E9PLS6_HUMAN,E9PLL8_HUMAN,E9PLA1_HUMAN,E9PL21_HUMAN,E9PL12_HUMAN,E9PKK3_HUMAN,E9PKH7_HUMAN,E9PK72_HUMAN,E9PK01_HUMAN,E9PJV8_HUMAN,E9PJ84_HUMAN,E9PIP5_HUMAN,E9PI93_HUMAN,E9PI39_HUMAN	.	UPI000013C7A6	SNV	EEF1D,missense_variant,p.Leu446Pro,ENST00000423316,;EEF1D,missense_variant,p.Leu56Pro,ENST00000528610,;EEF1D,missense_variant,p.Leu96Pro,ENST00000533749,;EEF1D,missense_variant,p.Leu80Pro,ENST00000530445,;EEF1D,missense_variant,p.Leu80Pro,ENST00000533494,;EEF1D,missense_variant,p.Leu80Pro,ENST00000530191,;EEF1D,missense_variant,p.Leu80Pro,ENST00000529272,;EEF1D,missense_variant,p.Leu80Pro,ENST00000534380,;EEF1D,missense_variant,p.Leu80Pro,ENST00000419152,;EEF1D,missense_variant,p.Leu56Pro,ENST00000524624,;EEF1D,missense_variant,p.Leu160Pro,ENST00000530616,;EEF1D,missense_variant,p.Leu80Pro,ENST00000531218,;EEF1D,missense_variant,p.Leu496Pro,ENST00000532741,;EEF1D,missense_variant,p.Leu80Pro,ENST00000395119,;EEF1D,missense_variant,p.Leu80Pro,ENST00000317198,;EEF1D,missense_variant,p.Leu80Pro,ENST00000533204,;EEF1D,missense_variant,p.Leu56Pro,ENST00000534377,;EEF1D,missense_variant,p.Leu446Pro,ENST00000442189,;EEF1D,splice_region_variant,,ENST00000526838,;EEF1D,splice_region_variant,,ENST00000529516,;EEF1D,splice_region_variant,,ENST00000531621,;EEF1D,intron_variant,,ENST00000532400,;EEF1D,intron_variant,,ENST00000528382,;NAPRT1,upstream_gene_variant,,ENST00000435154,;EEF1D,upstream_gene_variant,,ENST00000530109,;NAPRT1,upstream_gene_variant,,ENST00000449291,;NAPRT1,upstream_gene_variant,,ENST00000276844,;EEF1D,upstream_gene_variant,,ENST00000529576,;NAPRT1,upstream_gene_variant,,ENST00000340490,;EEF1D,downstream_gene_variant,,ENST00000526340,;NAPRT1,upstream_gene_variant,,ENST00000426292,;RP11-661A12.9,downstream_gene_variant,,ENST00000531730,;RP11-661A12.7,downstream_gene_variant,,ENST00000529247,;EEF1D,missense_variant,p.Leu80Pro,ENST00000529007,;EEF1D,missense_variant,p.Leu56Pro,ENST00000533833,;EEF1D,missense_variant,p.Leu80Pro,ENST00000524397,;EEF1D,splice_region_variant,,ENST00000534232,;EEF1D,non_coding_transcript_exon_variant,,ENST00000526786,;EEF1D,non_coding_transcript_exon_variant,,ENST00000530848,;EEF1D,non_coding_transcript_exon_variant,,ENST00000527741,;NAPRT1,upstream_gene_variant,,ENST00000464332,;NAPRT1,upstream_gene_variant,,ENST00000462059,;NAPRT1,upstream_gene_variant,,ENST00000491904,;NAPRT1,upstream_gene_variant,,ENST00000480946,;NAPRT1,upstream_gene_variant,,ENST00000532645,;EEF1D,downstream_gene_variant,,ENST00000525695,;NAPRT1,upstream_gene_variant,,ENST00000488096,;NAPRT1,upstream_gene_variant,,ENST00000525583,;	1679	84	245	SUCCESS
ZNF7	7553	.	GRCh37	8	146067920	146067920	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	70	113	0	ENST00000528372.1:c.1428A>C	p.Lys476Asn	p.K476N	ENST00000528372		476	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS6435.1	1428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAAGGCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,missense_variant,p.Lys476Asn,ENST00000528372,;ZNF7,missense_variant,p.Lys487Asn,ENST00000446747,;ZNF7,missense_variant,p.Lys476Asn,ENST00000325241,;ZNF7,missense_variant,p.Lys380Asn,ENST00000544249,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	1668	113	251	SUCCESS
TOX	9760	.	GRCh37	8	59851985	59851985	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	103	178	0	ENST00000361421.1:c.287T>A	p.Leu96Gln	p.L96Q	ENST00000361421	NM_014729.2	96	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS34897.1	287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACAGAGAA	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155	.	.	ENSP00000354842	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000361421	Transcript	.	.	ENSG00000198846	18988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	TOX_HUMAN	TOX	HGNC	B4DYA1_HUMAN	.	UPI0000070A73	SNV	TOX,missense_variant,p.Leu96Gln,ENST00000361421,;	508	178	296	SUCCESS
INTS8	55656	.	GRCh37	8	95835559	95835559	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs1434818030	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	45	53	0	ENST00000523731.1:c.-101C>G		p.*34*	ENST00000523731	NM_017864.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34925.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGGCCTCTCT	NONE	.	.	.	.	.	ENSP00000430338	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,5_prime_UTR_variant,,ENST00000519457,;INTS8,5_prime_UTR_variant,,ENST00000519053,;INTS8,5_prime_UTR_variant,,ENST00000447247,;INTS8,5_prime_UTR_variant,,ENST00000523731,;INTS8,intron_variant,,ENST00000523808,;INTS8,intron_variant,,ENST00000522171,;INTS8,intron_variant,,ENST00000521860,;INTS8,5_prime_UTR_variant,,ENST00000524333,;INTS8,non_coding_transcript_exon_variant,,ENST00000523321,;INTS8,upstream_gene_variant,,ENST00000343161,;INTS8,upstream_gene_variant,,ENST00000523206,;	33	53	92	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123239658	123239658	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	39	0	ENST00000349780.4:c.1697A>G	p.His566Arg	p.H566R	ENST00000349780	NM_018249.5	566	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS6823.1	1697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATGGGTA	NONE	.	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	15/38	.	.	.	.	.	.	.	.	.	15/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.14)	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,missense_variant,p.His566Arg,ENST00000349780,;CDK5RAP2,missense_variant,p.His566Arg,ENST00000360190,;CDK5RAP2,missense_variant,p.His566Arg,ENST00000360822,;CDK5RAP2,missense_variant,p.His566Arg,ENST00000359309,;CDK5RAP2,upstream_gene_variant,,ENST00000416449,;CDK5RAP2,missense_variant,p.His565Arg,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	1877	39	40	SUCCESS
GTF3C5	9328	.	GRCh37	9	135930549	135930549	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	12	0	ENST00000372097.5:c.1167+353A>T		p.*389*	ENST00000372097	NM_012087.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48050.1	.	MUTECT|MUSE	.	GACAGAGCCAG	NONE	.	.	.	.	.	ENSP00000361180	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372108	Transcript	.	.	ENSG00000148308	4668	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TF3C5_HUMAN	GTF3C5	HGNC	Q5T7U0_HUMAN	.	UPI000046FE5A	SNV	GTF3C5,missense_variant,p.Arg337Ser,ENST00000372095,;GTF3C5,3_prime_UTR_variant,,ENST00000435745,;GTF3C5,intron_variant,,ENST00000372099,;GTF3C5,intron_variant,,ENST00000342018,;GTF3C5,intron_variant,,ENST00000372108,;GTF3C5,intron_variant,,ENST00000372097,;GTF3C5,downstream_gene_variant,,ENST00000439697,;GTF3C5,downstream_gene_variant,,ENST00000440319,;GTF3C5,non_coding_transcript_exon_variant,,ENST00000461871,;GTF3C5,upstream_gene_variant,,ENST00000489842,;	.	12	13	SUCCESS
FCN1	2219	.	GRCh37	9	137804942	137804942	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143987379	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	107	0	ENST00000371806.3:c.388G>T	p.Gly130Cys	p.G130C	ENST00000371806	NM_002003.3	130	Ggc/Tgc	0	T:0.0002	.	.	.	.	A	G/C	protein_coding	YES	CCDS6985.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGCTCA	NONE	byCluster	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF165,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	T:0	ENSP00000360871	.	6/9	.	.	.	.	.	.	.	.	rs143987379	6/9	PASS	ENST00000371806	Transcript	.	.	ENSG00000085265	3623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCN1_HUMAN	FCN1	HGNC	Q92531_HUMAN	.	UPI000012A5A7	SNV	FCN1,missense_variant,p.Gly130Cys,ENST00000371806,;	480	107	76	SUCCESS
PRUNE2	158471	.	GRCh37	9	79321163	79321163	+	synonymous_variant	Silent	SNP	T	T	C	rs1305786624	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	41	141	0	ENST00000376718.3:c.6027A>G	p.Thr2009=	p.T2009=	ENST00000376718	NM_015225.2	2009	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS47982.1	6027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTGTCAT	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,synonymous_variant,p.%3D,ENST00000426088,;PRUNE2,synonymous_variant,p.%3D,ENST00000376718,;PRUNE2,synonymous_variant,p.%3D,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	6151	141	113	SUCCESS
RBM41	55285	.	GRCh37	X	106359256	106359256	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756498589	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	106	177	0	ENST00000372479.3:c.154C>T	p.Pro52Ser	p.P52S	ENST00000372479	NM_018301.3	52	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS14526.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGAGCAA	NONE	byFrequency	.	hmmpanther:PTHR16105,hmmpanther:PTHR16105:SF1	.	.	ENSP00000361557	.	3/7	.	.	.	.	.	.	.	.	rs756498589	3/7	PASS	ENST00000372479	Transcript	.	.	ENSG00000089682	25617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	RBM41_HUMAN	RBM41	HGNC	.	.	UPI000013CC0E	SNV	RBM41,missense_variant,p.Pro52Ser,ENST00000372487,;RBM41,missense_variant,p.Pro52Ser,ENST00000372479,;RBM41,missense_variant,p.Pro52Ser,ENST00000203616,;RBM41,missense_variant,p.Pro50Ser,ENST00000434854,;RBM41,non_coding_transcript_exon_variant,,ENST00000485676,;RBM41,non_coding_transcript_exon_variant,,ENST00000471079,;RBM41,upstream_gene_variant,,ENST00000475556,;RBM41,missense_variant,p.Pro52Ser,ENST00000495517,;	185	177	128	SUCCESS
RNF113A	7737	.	GRCh37	X	119005199	119005199	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	17	32	0	ENST00000371442.2:c.378A>G	p.Lys126=	p.K126=	ENST00000371442	NM_006978.2	126	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS14589.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCTTTCTC	NONE	.	.	hmmpanther:PTHR12930,hmmpanther:PTHR12930:SF2	.	.	ENSP00000360497	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371442	Transcript	.	.	ENSG00000125352	12974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R113A_HUMAN	RNF113A	HGNC	.	.	UPI000013C310	SNV	RNF113A,synonymous_variant,p.%3D,ENST00000371442,;NDUFA1,upstream_gene_variant,,ENST00000371437,;	593	32	22	SUCCESS
ATP2B3	492	.	GRCh37	X	152801801	152801801	+	synonymous_variant	Silent	SNP	G	G	T	rs202115287	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	63	119	0	ENST00000263519.4:c.96G>T	p.Ala32=	p.A32=	ENST00000263519	NM_001001344.2	32	gcG/gcT	0	.	A:0	.	A:0	.	T	A	protein_coding	YES	CCDS35440.1	96	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGGAGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24093:SF265,hmmpanther:PTHR24093	A:0.001	.	ENSP00000263519	A:0	1/20	.	.	.	.	.	.	.	.	rs202115287	1/20	PASS	ENST00000263519	Transcript	.	A:0.0003	ENSG00000067842	816	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,synonymous_variant,p.%3D,ENST00000393842,;ATP2B3,synonymous_variant,p.%3D,ENST00000359149,;ATP2B3,synonymous_variant,p.%3D,ENST00000263519,;ATP2B3,synonymous_variant,p.%3D,ENST00000370181,;ATP2B3,synonymous_variant,p.%3D,ENST00000370186,;ATP2B3,synonymous_variant,p.%3D,ENST00000349466,;	222	119	78	SUCCESS
DDX53	168400	.	GRCh37	X	23018432	23018432	+	synonymous_variant	Silent	SNP	C	C	T	rs778444531	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	112	190	0	ENST00000327968.5:c.258C>T	p.Asn86=	p.N86=	ENST00000327968	NM_182699.3	86	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS35214.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAACGGGGA	NONE	byFrequency	.	PROSITE_profiles:PS50084,hmmpanther:PTHR24031:SF157,hmmpanther:PTHR24031,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000368667	.	1/1	.	.	.	.	.	.	.	.	rs778444531,COSM3694504	1/1	PASS	ENST00000327968	Transcript	.	.	ENSG00000184735	20083	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DDX53_HUMAN	DDX53	HGNC	.	.	UPI0000199904	SNV	DDX53,synonymous_variant,p.%3D,ENST00000327968,;RP11-40F8.2,intron_variant,,ENST00000455399,;RP11-40F8.2,intron_variant,,ENST00000608254,;	346	190	140	SUCCESS
PDZD11	51248	.	GRCh37	X	69509251	69509251	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	50	93	0	ENST00000239666.4:c.-13-47C>G		p.*5*	ENST00000239666	NM_016484.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14400.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGCAGCC	NONE	.	.	.	.	.	ENSP00000239666	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239666	Transcript	.	.	ENSG00000120509	28034	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDZ11_HUMAN	PDZD11	HGNC	.	.	UPI0000070675	SNV	PDZD11,intron_variant,,ENST00000239666,;PDZD11,intron_variant,,ENST00000374454,;KIF4A,upstream_gene_variant,,ENST00000374403,;RAB41,downstream_gene_variant,,ENST00000276066,;RAB41,downstream_gene_variant,,ENST00000374473,;KIF4A,upstream_gene_variant,,ENST00000374388,;PDZD11,non_coding_transcript_exon_variant,,ENST00000473667,;PDZD11,intron_variant,,ENST00000486461,;KIF4A,upstream_gene_variant,,ENST00000485406,;	.	93	65	SUCCESS
CALHM1	255022	.	GRCh37	10	105215375	105215375	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	83	0	ENST00000329905.5:c.685A>T	p.Lys229Ter	p.K229*	ENST00000329905	NM_001001412.3	229	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS7550.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTTGCGCT	NONE	.	.	hmmpanther:PTHR32261:SF2,hmmpanther:PTHR32261,Pfam_domain:PF14798	.	.	ENSP00000329926	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329905	Transcript	.	.	ENSG00000185933	23494	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAHM1_HUMAN	CALHM1	HGNC	.	.	UPI000016144D	SNV	CALHM1,stop_gained,p.Lys229Ter,ENST00000329905,;CALHM2,upstream_gene_variant,,ENST00000369788,;CALHM2,upstream_gene_variant,,ENST00000393235,;CALHM2,upstream_gene_variant,,ENST00000260743,;RP11-225H22.4,intron_variant,,ENST00000411906,;RP11-225H22.7,downstream_gene_variant,,ENST00000608063,;CALHM2,upstream_gene_variant,,ENST00000474797,;CALHM2,upstream_gene_variant,,ENST00000480642,;CALHM2,upstream_gene_variant,,ENST00000463878,;CALHM2,upstream_gene_variant,,ENST00000461631,;CALHM2,upstream_gene_variant,,ENST00000494180,;	822	83	87	SUCCESS
NKX6-2	84504	.	GRCh37	10	134599068	134599068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	13	0	ENST00000368592.5:c.385G>T	p.Asp129Tyr	p.D129Y	ENST00000368592	NM_177400.2	129	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS7670.1	385	MUTECT|MUSE	.	CGGGTCCCTCC	NONE	.	.	hmmpanther:PTHR24340:SF21,hmmpanther:PTHR24340	.	.	ENSP00000357581	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000368592	Transcript	.	.	ENSG00000148826	19321	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.885)	.	deleterious(0.05)	.	NKX62_HUMAN	NKX6-2	HGNC	.	.	UPI000013DB5A	SNV	NKX6-2,missense_variant,p.Asp129Tyr,ENST00000368592,;INPP5A,downstream_gene_variant,,ENST00000368594,;INPP5A,downstream_gene_variant,,ENST00000445580,;RP11-288G11.3,upstream_gene_variant,,ENST00000441365,;	489	13	23	SUCCESS
CUBN	8029	.	GRCh37	10	17147481	17147481	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	90	0	ENST00000377833.4:c.1205A>T	p.His402Leu	p.H402L	ENST00000377833	NM_001081.3	402	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS7113.1	1205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGTGACTT	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000367064	.	11/67	.	.	.	.	.	.	.	.	.	11/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.428)	.	deleterious(0)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.His402Leu,ENST00000377833,;	1271	90	90	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75558879	75558879	+	synonymous_variant	Silent	SNP	T	T	C	rs765939031	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	124	0	ENST00000605216.1:c.4281T>C	p.Thr1427=	p.T1427=	ENST00000605216	NM_001242487.1	1427	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS44440.1	4296	RADIA|MUTECT|MUSE	.	CAAACTGCAGG	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	21/26	.	.	.	.	.	.	.	.	rs765939031	21/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,synonymous_variant,p.%3D,ENST00000603187,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604754,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604729,;ZSWIM8,synonymous_variant,p.%3D,ENST00000412198,;ZSWIM8,synonymous_variant,p.%3D,ENST00000603114,;ZSWIM8,synonymous_variant,p.%3D,ENST00000605216,;ZSWIM8,synonymous_variant,p.%3D,ENST00000398706,;ZSWIM8,intron_variant,,ENST00000604524,;NDST2,downstream_gene_variant,,ENST00000429742,;ZSWIM8,upstream_gene_variant,,ENST00000466354,;NDST2,downstream_gene_variant,,ENST00000299641,;NDST2,downstream_gene_variant,,ENST00000309979,;ZSWIM8-AS1,intron_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000604165,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603409,;ZSWIM8,upstream_gene_variant,,ENST00000466568,;ZSWIM8,upstream_gene_variant,,ENST00000603840,;ZSWIM8,downstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000431225,;ZSWIM8,downstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000603309,;ZSWIM8,upstream_gene_variant,,ENST00000603195,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,3_prime_UTR_variant,,ENST00000492395,;ZSWIM8,3_prime_UTR_variant,,ENST00000433366,;RP11-574K11.31,intron_variant,,ENST00000603027,;RP11-574K11.31,intron_variant,,ENST00000603706,;	4513	124	105	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75558885	75558885	+	synonymous_variant	Silent	SNP	T	T	G	rs773713570	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	118	0	ENST00000605216.1:c.4287T>G	p.Gly1429=	p.G1429=	ENST00000605216	NM_001242487.1	1429	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS44440.1	4302	RADIA|MUTECT|MUSE	.	GCAGGTGGCTC	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	21/26	.	.	.	.	.	.	.	.	rs773713570	21/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,synonymous_variant,p.%3D,ENST00000603187,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604754,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604729,;ZSWIM8,synonymous_variant,p.%3D,ENST00000412198,;ZSWIM8,synonymous_variant,p.%3D,ENST00000603114,;ZSWIM8,synonymous_variant,p.%3D,ENST00000605216,;ZSWIM8,synonymous_variant,p.%3D,ENST00000398706,;ZSWIM8,intron_variant,,ENST00000604524,;NDST2,downstream_gene_variant,,ENST00000429742,;ZSWIM8,upstream_gene_variant,,ENST00000466354,;NDST2,downstream_gene_variant,,ENST00000299641,;NDST2,downstream_gene_variant,,ENST00000309979,;ZSWIM8-AS1,intron_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000604165,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603409,;ZSWIM8,upstream_gene_variant,,ENST00000466568,;ZSWIM8,upstream_gene_variant,,ENST00000603840,;ZSWIM8,downstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000431225,;ZSWIM8,downstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000603309,;ZSWIM8,upstream_gene_variant,,ENST00000603195,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,3_prime_UTR_variant,,ENST00000492395,;ZSWIM8,3_prime_UTR_variant,,ENST00000433366,;RP11-574K11.31,intron_variant,,ENST00000603027,;RP11-574K11.31,intron_variant,,ENST00000603706,;	4519	118	102	SUCCESS
DLG5	9231	.	GRCh37	10	79581096	79581096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	41	0	ENST00000372391.2:c.3146G>T	p.Ser1049Ile	p.S1049I	ENST00000372391	NM_004747.3	1049	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS7353.2	3146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGCTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13865	.	.	ENSP00000361467	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,missense_variant,p.Ser1049Ile,ENST00000372391,;DLG5,intron_variant,,ENST00000424842,;DLG5,intron_variant,,ENST00000372388,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,upstream_gene_variant,,ENST00000463362,;DLG5,upstream_gene_variant,,ENST00000476354,;DLG5,downstream_gene_variant,,ENST00000466198,;	3152	41	59	SUCCESS
TUBB8	347688	.	GRCh37	10	95177	95177	+	start_lost	Translation_Start_Site	SNP	A	A	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	60	110	0	ENST00000309812.4:c.2T>G	p.Met1?	p.M1?	ENST00000309812	NM_177987.2	1	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS7051.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCATGGCC	NONE	.	.	Superfamily_domains:SSF52490,Gene3D:3.40.50.1440,PROSITE_patterns:PS00228,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious_low_confidence(0)	.	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,start_lost,p.Met1?,ENST00000332708,;TUBB8,start_lost,p.Met1?,ENST00000309812,;TUBB8,intron_variant,,ENST00000447903,;TUBB8,intron_variant,,ENST00000413237,;TUBB8,non_coding_transcript_exon_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	65	110	151	SUCCESS
MMP1	4312	.	GRCh37	11	102661252	102661252	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs181629882	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	51	98	0	ENST00000315274.6:c.1301G>A	p.Gly434Glu	p.G434E	ENST00000315274	NM_002421.3	434	gGa/gAa	0	.	A:0	.	A:0	.	T	G/E	protein_coding	YES	CCDS8322.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCCTAGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF127,Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,SMART_domains:SM00120,Superfamily_domains:SSF50923	A:0	.	ENSP00000322788	A:0.001	10/10	.	.	.	.	.	.	.	.	rs181629882,COSM685766	10/10	PASS	ENST00000315274	Transcript	.	A:0.0002	ENSG00000196611	7155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.491)	A:0	deleterious(0.03)	0,1	MMP1_HUMAN	MMP1	HGNC	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN	.	UPI00000422BA	SNV	MMP1,missense_variant,p.Gly434Glu,ENST00000315274,;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,intron_variant,,ENST00000544704,;	1369	98	121	SUCCESS
BUD13	84811	.	GRCh37	11	116633446	116633446	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	48	116	0	ENST00000260210.4:c.859A>G	p.Ser287Gly	p.S287G	ENST00000260210	NM_032725.3	287	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS8374.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTTTTGG	NONE	.	.	hmmpanther:PTHR31809	.	.	ENSP00000260210	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000260210	Transcript	.	.	ENSG00000137656	28199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.23)	.	BUD13_HUMAN	BUD13	HGNC	.	.	UPI0000072AE6	SNV	BUD13,missense_variant,p.Ser287Gly,ENST00000260210,;BUD13,intron_variant,,ENST00000375445,;BUD13,missense_variant,p.Ser37Gly,ENST00000419189,;	883	116	114	SUCCESS
MUC5B	727897	.	GRCh37	11	1270660	1270660	+	synonymous_variant	Silent	SNP	C	C	T	rs774559269	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	421	28	383	0	ENST00000529681.1:c.12550C>T	p.Leu4184=	p.L4184=	ENST00000529681	NM_002458.2	4184	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44515.2	12550	MUTECT|MUSE	.	TCCCCCTGGGG	NONE	byFrequency	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	rs774559269	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	12608	383	449	SUCCESS
ETS1	2113	.	GRCh37	11	128332286	128332286	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	60	107	0	ENST00000319397.6:c.1296G>C	p.Met432Ile	p.M432I	ENST00000319397	NM_005238.3	432	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS44767.1	1428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCATGGC	NONE	.	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF46,Gene3D:1.10.10.10,PIRSF_domain:PIRSF001698,Superfamily_domains:SSF46785	.	.	ENSP00000376436	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000392668	Transcript	.	.	ENSG00000134954	3488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.663)	.	tolerated(0.21)	.	ETS1_HUMAN	ETS1	HGNC	.	.	UPI00001BDB62	SNV	ETS1,missense_variant,p.Met476Ile,ENST00000392668,;ETS1,missense_variant,p.Met216Ile,ENST00000535549,;ETS1,missense_variant,p.Met432Ile,ENST00000319397,;ETS1,missense_variant,p.Met345Ile,ENST00000526145,;ETS1,missense_variant,p.Met345Ile,ENST00000345075,;ETS1,3_prime_UTR_variant,,ENST00000531611,;ETS1,downstream_gene_variant,,ENST00000530924,;	1513	107	128	SUCCESS
FANCF	2188	.	GRCh37	11	22646708	22646708	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs940463318	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	56	0	ENST00000327470.3:c.649C>T	p.Arg217Trp	p.R217W	ENST00000327470	NM_022725.3	217	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7857.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGACGAG	NONE	.	.	hmmpanther:PTHR14449,hmmpanther:PTHR14449:SF2,Pfam_domain:PF11107	.	.	ENSP00000330875	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327470	Transcript	.	.	ENSG00000183161	3587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0.03)	.	FANCF_HUMAN	FANCF	HGNC	A3KME0_HUMAN	.	UPI000012A4CA	SNV	FANCF,missense_variant,p.Arg217Trp,ENST00000327470,;AC103801.2,upstream_gene_variant,,ENST00000428556,;GAS2,upstream_gene_variant,,ENST00000528582,;	680	56	69	SUCCESS
FANCF	2188	.	GRCh37	11	22647195	22647195	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	35	150	0	ENST00000327470.3:c.162del	p.Arg55AlafsTer26	p.R55Afs*26	ENST00000327470	NM_022725.3	54	atT/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS7857.1	162	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTGCGAATGGG	NONE	.	.	hmmpanther:PTHR14449,hmmpanther:PTHR14449:SF2,Pfam_domain:PF11107	.	.	ENSP00000330875	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327470	Transcript	.	.	ENSG00000183161	3587	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FANCF_HUMAN	FANCF	HGNC	A3KME0_HUMAN	.	UPI000012A4CA	deletion	FANCF,frameshift_variant,p.Arg55AlafsTer26,ENST00000327470,;AC103801.2,3_prime_UTR_variant,,ENST00000428556,;GAS2,5_prime_UTR_variant,,ENST00000528582,;	193	150	172	SUCCESS
CD44	960	.	GRCh37	11	35232954	35232954	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs373762543	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	40	157	0	ENST00000428726.2:c.1768A>G	p.Thr590Ala	p.T590A	ENST00000428726	NM_000610.3	590	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS7897.1	1768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTACTGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6	.	.	ENSP00000398632	.	14/18	.	.	.	.	.	.	.	.	rs373762543	14/18	PASS	ENST00000428726	Transcript	.	.	ENSG00000026508	1681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0)	.	CD44_HUMAN	CD44	HGNC	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN	.	UPI000013D3FE	SNV	CD44,missense_variant,p.Thr547Ala,ENST00000449691,;CD44,missense_variant,p.Thr224Ala,ENST00000526000,;CD44,missense_variant,p.Thr341Ala,ENST00000433892,;CD44,missense_variant,p.Thr547Ala,ENST00000415148,;CD44,missense_variant,p.Thr590Ala,ENST00000428726,;CD44,missense_variant,p.Thr277Ala,ENST00000434472,;CD44,missense_variant,p.Thr562Ala,ENST00000433354,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000442151,;CD44,intron_variant,,ENST00000437706,;CD44,intron_variant,,ENST00000278386,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000263398,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000278385,;CD44,downstream_gene_variant,,ENST00000531873,;CD44,downstream_gene_variant,,ENST00000531110,;CD44,downstream_gene_variant,,ENST00000528672,;CD44,downstream_gene_variant,,ENST00000525685,;CD44,downstream_gene_variant,,ENST00000526553,;CD44,downstream_gene_variant,,ENST00000533222,;CD44,downstream_gene_variant,,ENST00000527889,;RP1-68D18.4,intron_variant,,ENST00000528869,;RP1-68D18.2,upstream_gene_variant,,ENST00000510619,;CD44,downstream_gene_variant,,ENST00000528086,;CD44,non_coding_transcript_exon_variant,,ENST00000525293,;CD44,intron_variant,,ENST00000425428,;CD44,upstream_gene_variant,,ENST00000527326,;CD44,downstream_gene_variant,,ENST00000532339,;	1891	157	162	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137179	40137179	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	115	0	ENST00000278198.2:c.664G>T	p.Asp222Tyr	p.D222Y	ENST00000278198		222	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31464.1	664	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCTAGTT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF00560,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	COSM688202	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.82)	.	deleterious(0)	1	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Asp222Tyr,ENST00000528697,;LRRC4C,missense_variant,p.Asp222Tyr,ENST00000278198,;LRRC4C,missense_variant,p.Asp222Tyr,ENST00000530763,;LRRC4C,missense_variant,p.Asp222Tyr,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2628	116	134	SUCCESS
TRIM68	55128	.	GRCh37	11	4621727	4621727	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1589847955	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	4	119	0	ENST00000300747.5:c.1237A>G	p.Ile413Val	p.I413V	ENST00000300747	NM_018073.6	413	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31356.1	1237	MUTECT|MUSE	.	CAGGATTGGGT	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF89,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	.	ENSP00000300747	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000300747	Transcript	.	.	ENSG00000167333	21161	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.62)	.	TRI68_HUMAN	TRIM68	HGNC	E9PP83_HUMAN	.	UPI00001D6F26	SNV	TRIM68,missense_variant,p.Ile413Val,ENST00000300747,;TRIM68,downstream_gene_variant,,ENST00000526337,;TRIM68,downstream_gene_variant,,ENST00000533021,;TRIM68,3_prime_UTR_variant,,ENST00000531101,;TRIM68,downstream_gene_variant,,ENST00000532108,;TRIM68,downstream_gene_variant,,ENST00000531717,;TRIM68,downstream_gene_variant,,ENST00000531644,;	1527	119	112	SUCCESS
SDHAF2	54949	.	GRCh37	11	61205156	61205156	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	51	94	0	ENST00000301761.2:c.96A>C	p.Arg32Ser	p.R32S	ENST00000301761	NM_017841.2	32	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS8007.1	96	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGACGCTT	NONE	.	.	hmmpanther:PTHR12469,hmmpanther:PTHR12469:SF2	.	.	ENSP00000301761	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000301761	Transcript	.	.	ENSG00000167985	26034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.41)	.	SDHF2_HUMAN	SDHAF2	HGNC	F5GYJ5_HUMAN	.	UPI0000039E6D	SNV	SDHAF2,missense_variant,p.Arg32Ser,ENST00000534878,;SDHAF2,missense_variant,p.Arg32Ser,ENST00000537782,;SDHAF2,missense_variant,p.Arg32Ser,ENST00000301761,;SDHAF2,missense_variant,p.Arg32Ser,ENST00000543265,;RP11-286N22.8,missense_variant,p.Arg32Ser,ENST00000541135,;SDHAF2,intron_variant,,ENST00000542074,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000544025,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000544880,;RP11-286N22.8,missense_variant,p.Arg32Ser,ENST00000544801,;RP11-286N22.8,missense_variant,p.Arg20Ser,ENST00000543044,;SDHAF2,missense_variant,p.Arg32Ser,ENST00000359614,;RP11-286N22.8,missense_variant,p.Arg32Ser,ENST00000538594,;SDHAF2,3_prime_UTR_variant,,ENST00000536250,;SDHAF2,3_prime_UTR_variant,,ENST00000542794,;RP11-286N22.8,non_coding_transcript_exon_variant,,ENST00000536670,;	170	94	105	SUCCESS
PCF11	51585	.	GRCh37	11	82877098	82877098	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	7	120	0	ENST00000298281.4:c.1159C>A	p.Gln387Lys	p.Q387K	ENST00000298281	NM_015885.3	387	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS44689.1	1159	MUTECT|MUSE	.	AAAATCAAGAA	NONE	.	.	hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921	.	.	ENSP00000298281	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000298281	Transcript	.	.	ENSG00000165494	30097	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.064)	.	tolerated(0.93)	.	PCF11_HUMAN	PCF11	HGNC	E9PKN0_HUMAN	.	UPI00001BB2B7	SNV	PCF11,missense_variant,p.Gln387Lys,ENST00000298281,;PCF11,missense_variant,p.Gln387Lys,ENST00000530660,;PCF11,missense_variant,p.Gln387Lys,ENST00000530304,;PCF11,downstream_gene_variant,,ENST00000533018,;	1611	120	142	SUCCESS
IQSEC3	440073	.	GRCh37	12	248488	248488	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	66	152	1	ENST00000538872.1:c.1959G>T	p.Arg653=	p.R653=	ENST00000538872		653	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS53728.1	1959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGCTCTA	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:1.10.220.20,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000437554	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000538872	Transcript	.	.	ENSG00000120645	29193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQEC3_HUMAN	IQSEC3	HGNC	.	.	UPI0000DBEEF0	SNV	IQSEC3,synonymous_variant,p.%3D,ENST00000538872,;IQSEC3,synonymous_variant,p.%3D,ENST00000382841,;IQSEC3,synonymous_variant,p.%3D,ENST00000326261,;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	2077	153	161	SUCCESS
KIF21A	55605	.	GRCh37	12	39726081	39726081	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	7	93	0	ENST00000361418.5:c.2986A>G	p.Ile996Val	p.I996V	ENST00000361418		996	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53776.1	2986	MUTECT|MUSE	.	ATCGATATTAG	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398,Superfamily_domains:SSF46579	.	.	ENSP00000354878	.	21/38	.	.	.	.	.	.	.	.	.	21/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	deleterious(0.05)	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,missense_variant,p.Ile344Val,ENST00000552961,;KIF21A,missense_variant,p.Ile996Val,ENST00000361418,;KIF21A,missense_variant,p.Ile44Val,ENST00000551264,;KIF21A,missense_variant,p.Ile983Val,ENST00000544797,;KIF21A,missense_variant,p.Ile996Val,ENST00000395670,;KIF21A,missense_variant,p.Ile960Val,ENST00000541463,;KIF21A,missense_variant,p.Ile17Val,ENST00000551066,;KIF21A,missense_variant,p.Ile983Val,ENST00000361961,;KIF21A,upstream_gene_variant,,ENST00000552475,;KIF21A,missense_variant,p.Ile254Val,ENST00000547108,;KIF21A,downstream_gene_variant,,ENST00000546817,;	3002	93	96	SUCCESS
SCAF11	9169	.	GRCh37	12	46320992	46320992	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	64	0	ENST00000369367.3:c.2492A>C	p.Gln831Pro	p.Q831P	ENST00000369367	NM_004719.2	831	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS8748.2	2492	MUTECT|MUSE	.	GTGATTGAGAC	NONE	.	.	hmmpanther:PTHR15242:SF3,hmmpanther:PTHR15242	.	.	ENSP00000358374	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000369367	Transcript	.	.	ENSG00000139218	10784	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.14)	.	SCAFB_HUMAN	SCAF11	HGNC	F8VXG7_HUMAN	.	UPI0000D481F2	SNV	SCAF11,missense_variant,p.Gln516Pro,ENST00000465950,;SCAF11,missense_variant,p.Gln831Pro,ENST00000369367,;SCAF11,missense_variant,p.Gln831Pro,ENST00000419565,;SCAF11,missense_variant,p.Gln639Pro,ENST00000549162,;SCAF11,downstream_gene_variant,,ENST00000484275,;SCAF11,upstream_gene_variant,,ENST00000547654,;SCAF11,upstream_gene_variant,,ENST00000550629,;SCAF11,missense_variant,p.Gln771Pro,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000546534,;SCAF11,upstream_gene_variant,,ENST00000550893,;SCAF11,upstream_gene_variant,,ENST00000547950,;	2726	64	70	SUCCESS
LLPH	84298	.	GRCh37	12	66522717	66522717	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	84	269	0	ENST00000266604.2:c.170A>G	p.His57Arg	p.H57R	ENST00000266604	NM_032338.3	57	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS8974.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAATGTTTG	NONE	.	.	Pfam_domain:PF10169	.	.	ENSP00000266604	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000266604	Transcript	.	.	ENSG00000139233	28229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.54)	.	LLPH_HUMAN	LLPH	HGNC	.	.	UPI000006E52D	SNV	LLPH,missense_variant,p.His57Arg,ENST00000446587,;LLPH,missense_variant,p.His57Arg,ENST00000266604,;TMBIM4,3_prime_UTR_variant,,ENST00000556010,;RP11-745O10.2,upstream_gene_variant,,ENST00000510317,;TMBIM4,3_prime_UTR_variant,,ENST00000539652,;	241	269	285	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72004331	72004331	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	79	0	ENST00000378743.3:c.5847A>G	p.Glu1949=	p.E1949=	ENST00000378743	NM_144982.4	1949	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS41813.1	5847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTTCAAA	NONE	.	.	SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000368017	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,synonymous_variant,p.%3D,ENST00000378743,;ZFC3H1,3_prime_UTR_variant,,ENST00000552994,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000550963,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000547398,;ZFC3H1,downstream_gene_variant,,ENST00000546771,;ZFC3H1,downstream_gene_variant,,ENST00000546475,;ZFC3H1,downstream_gene_variant,,ENST00000551487,;	6206	79	83	SUCCESS
ACIN1	22985	.	GRCh37	14	23532224	23532224	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759178379	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	42	103	0	ENST00000262710.1:c.2971A>G	p.Ile991Val	p.I991V	ENST00000262710	NM_001164814.1	991	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9587.1	2971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAATGGAAA	NONE	.	.	hmmpanther:PTHR14127	.	.	ENSP00000262710	.	14/19	.	.	.	.	.	.	.	.	rs759178379	14/19	PASS	ENST00000262710	Transcript	.	.	ENSG00000100813	17066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	.	.	ACINU_HUMAN	ACIN1	HGNC	S4R3H4_HUMAN	.	UPI000013D308	SNV	ACIN1,missense_variant,p.Ile264Val,ENST00000338631,;ACIN1,missense_variant,p.Ile991Val,ENST00000262710,;ACIN1,missense_variant,p.Ile232Val,ENST00000557515,;ACIN1,missense_variant,p.Ile233Val,ENST00000357481,;ACIN1,missense_variant,p.Ile233Val,ENST00000397341,;ACIN1,missense_variant,p.Ile933Val,ENST00000605057,;ACIN1,missense_variant,p.Ile978Val,ENST00000555053,;ACIN1,missense_variant,p.Ile951Val,ENST00000457657,;ACIN1,downstream_gene_variant,,ENST00000555566,;ACIN1,non_coding_transcript_exon_variant,,ENST00000555478,;ACIN1,non_coding_transcript_exon_variant,,ENST00000473758,;ACIN1,non_coding_transcript_exon_variant,,ENST00000554680,;ACIN1,downstream_gene_variant,,ENST00000553790,;ACIN1,downstream_gene_variant,,ENST00000557039,;ACIN1,upstream_gene_variant,,ENST00000555395,;ACIN1,downstream_gene_variant,,ENST00000556052,;ACIN1,downstream_gene_variant,,ENST00000555807,;	3299	103	128	SUCCESS
FSCB	84075	.	GRCh37	14	44974177	44974177	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	68	0	ENST00000340446.4:c.2014C>A	p.Pro672Thr	p.P672T	ENST00000340446	NM_032135.3	672	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9679.1	2014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGCTGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.27)	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,missense_variant,p.Pro672Thr,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	2306	68	59	SUCCESS
PTGDR	5729	.	GRCh37	14	52735006	52735006	+	synonymous_variant	Silent	SNP	C	C	T	rs775335857	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	46	0	ENST00000306051.2:c.474C>T	p.Ala158=	p.A158=	ENST00000306051	NM_000953.2	158	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9707.1	474	MUTECT|MUSE	.	AGCGCCTTCTC	NONE	byFrequency	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR11866:SF14,hmmpanther:PTHR11866,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000303424	.	1/2	.	.	.	.	.	.	.	.	rs775335857	1/2	PASS	ENST00000306051	Transcript	.	.	ENSG00000168229	9591	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PD2R_HUMAN	PTGDR	HGNC	.	.	UPI000000D994	SNV	PTGDR,synonymous_variant,p.%3D,ENST00000553372,;PTGDR,synonymous_variant,p.%3D,ENST00000306051,;	576	46	54	SUCCESS
TRMT5	57570	.	GRCh37	14	61446462	61446462	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	91	0	ENST00000261249.6:c.154G>A	p.Gly52Ser	p.G52S	ENST00000261249	NM_020810.2	52	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32092.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCCAATA	NONE	.	.	.	.	.	ENSP00000261249	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000261249	Transcript	.	.	ENSG00000126814	23141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.86)	.	TRM5_HUMAN	TRMT5	HGNC	.	.	UPI000016003D	SNV	TRMT5,missense_variant,p.Gly52Ser,ENST00000261249,;TRMT5,missense_variant,p.Gly79Ser,ENST00000555420,;TRMT5,missense_variant,p.Gly80Ser,ENST00000553903,;SLC38A6,upstream_gene_variant,,ENST00000451406,;SLC38A6,upstream_gene_variant,,ENST00000456840,;SLC38A6,upstream_gene_variant,,ENST00000267488,;SLC38A6,upstream_gene_variant,,ENST00000526105,;SLC38A6,upstream_gene_variant,,ENST00000354886,;SLC38A6,upstream_gene_variant,,ENST00000533744,;RP11-193F5.1,intron_variant,,ENST00000553946,;SLC38A6,upstream_gene_variant,,ENST00000532148,;SLC38A6,upstream_gene_variant,,ENST00000554304,;SLC38A6,upstream_gene_variant,,ENST00000491344,;SLC38A6,upstream_gene_variant,,ENST00000525723,;SLC38A6,upstream_gene_variant,,ENST00000528350,;SLC38A6,upstream_gene_variant,,ENST00000529345,;SLC38A6,upstream_gene_variant,,ENST00000525585,;SLC38A6,upstream_gene_variant,,ENST00000527591,;SLC38A6,upstream_gene_variant,,ENST00000524402,;	539	91	74	SUCCESS
MEF2A	4205	.	GRCh37	15	100185917	100185917	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	78	173	0	ENST00000354410.5:c.206A>G	p.Tyr69Cys	p.Y69C	ENST00000354410	NM_005587.2	69	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45362.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTATACAG	NONE	.	.	hmmpanther:PTHR11945:SF145,hmmpanther:PTHR11945,Superfamily_domains:SSF55455	.	.	ENSP00000346389	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000354410	Transcript	1	.	ENSG00000068305	6993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0)	.	MEF2A_HUMAN	MEF2A	HGNC	H0YNI2_HUMAN,H0YM62_HUMAN,H0YKY6_HUMAN,D6RJ95_HUMAN	.	UPI0000073025	SNV	MEF2A,missense_variant,p.Tyr69Cys,ENST00000453228,;MEF2A,missense_variant,p.Tyr69Cys,ENST00000557785,;MEF2A,missense_variant,p.Tyr69Cys,ENST00000354410,;MEF2A,missense_variant,p.Tyr69Cys,ENST00000560493,;MEF2A,missense_variant,p.Tyr69Cys,ENST00000557942,;MEF2A,missense_variant,p.Tyr69Cys,ENST00000559903,;MEF2A,missense_variant,p.Tyr69Cys,ENST00000338042,;MEF2A,intron_variant,,ENST00000558812,;MEF2A,intron_variant,,ENST00000449277,;MEF2A,downstream_gene_variant,,ENST00000558049,;MEF2A,intron_variant,,ENST00000558856,;MEF2A,non_coding_transcript_exon_variant,,ENST00000558983,;MEF2A,non_coding_transcript_exon_variant,,ENST00000559036,;	835	173	186	SUCCESS
MKRN3	7681	.	GRCh37	15	23812391	23812391	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	90	0	ENST00000314520.3:c.1462T>C	p.Ser488Pro	p.S488P	ENST00000314520	NM_005664.3	488	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS10013.1	1462	MUTECT|MUSE	.	CCTTCTCTGAG	NONE	.	.	hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.758)	.	deleterious(0.03)	.	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,missense_variant,p.Ser488Pro,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	1938	90	76	SUCCESS
SLC24A5	283652	.	GRCh37	15	48414317	48414317	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	22	0	ENST00000341459.3:c.301+84G>A		p.*101*	ENST00000341459	NM_205850.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10128.1	.	MUTECT|MUSE	.	CAGCTGTCCTG	NONE	.	.	.	.	.	ENSP00000341550	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341459	Transcript	1	.	ENSG00000188467	20611	.	.	MODIFIER	2/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCKX5_HUMAN	SLC24A5	HGNC	.	.	UPI0000242BC9	SNV	SLC24A5,3_prime_UTR_variant,,ENST00000482911,;SLC24A5,intron_variant,,ENST00000341459,;SLC24A5,intron_variant,,ENST00000449382,;SLC24A5,intron_variant,,ENST00000463289,;	.	22	21	SUCCESS
CEP152	22995	.	GRCh37	15	49031451	49031451	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	64	0	ENST00000380950.2:c.4128T>C	p.Val1376=	p.V1376=	ENST00000380950	NM_001194998.1	1376	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS58361.1	4128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAACTGC	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6	.	.	ENSP00000370337	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,synonymous_variant,p.%3D,ENST00000380950,;CEP152,synonymous_variant,p.%3D,ENST00000399334,;CEP152,downstream_gene_variant,,ENST00000325747,;CEP152,intron_variant,,ENST00000561245,;	4316	64	67	SUCCESS
MESP2	145873	.	GRCh37	15	90320448	90320448	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763639003	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	92	0	ENST00000341735.3:c.860C>T	p.Pro287Leu	p.P287L	ENST00000341735	NM_001039958.1	287	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42078.1	860	MUTECT|MUSE	.	AGAGCCCCGGA	NONE	.	.	hmmpanther:PTHR20937:SF6,hmmpanther:PTHR20937	.	.	ENSP00000342392	.	1/2	.	.	.	.	.	.	.	.	rs763639003	1/2	PASS	ENST00000341735	Transcript	1	.	ENSG00000188095	29659	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.421)	.	deleterious(0.04)	.	MESP2_HUMAN	MESP2	HGNC	.	.	UPI00006E232B	SNV	MESP2,missense_variant,p.Pro287Leu,ENST00000341735,;MESP2,intron_variant,,ENST00000560219,;MESP2,intron_variant,,ENST00000558723,;	860	92	89	SUCCESS
RCCD1	91433	.	GRCh37	15	91500027	91500027	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	65	0	ENST00000394258.2:c.63G>C	p.Leu21=	p.L21=	ENST00000394258	NM_033544.2	21	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS32333.1	63	MUTECT|MUSE	.	GAGCTGGGCTC	NONE	.	.	Superfamily_domains:SSF50985,Gene3D:2.130.10.30,hmmpanther:PTHR22870:SF153,hmmpanther:PTHR22870	.	.	ENSP00000377801	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000394258	Transcript	.	.	ENSG00000166965	30457	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RCCD1_HUMAN	RCCD1	HGNC	.	.	UPI00001FEBD4	SNV	RCCD1,synonymous_variant,p.%3D,ENST00000555155,;RCCD1,synonymous_variant,p.%3D,ENST00000394258,;RCCD1,synonymous_variant,p.%3D,ENST00000556618,;UNC45A,downstream_gene_variant,,ENST00000418476,;UNC45A,downstream_gene_variant,,ENST00000394275,;AC068831.6,upstream_gene_variant,,ENST00000553321,;RCCD1,intron_variant,,ENST00000556774,;RCCD1,synonymous_variant,p.%3D,ENST00000556333,;RCCD1,non_coding_transcript_exon_variant,,ENST00000557266,;RCCD1,non_coding_transcript_exon_variant,,ENST00000555737,;RCCD1,non_coding_transcript_exon_variant,,ENST00000554302,;RCCD1,upstream_gene_variant,,ENST00000557750,;UNC45A,downstream_gene_variant,,ENST00000471780,;UNC45A,downstream_gene_variant,,ENST00000487875,;	265	65	73	SUCCESS
PDXDC1	23042	.	GRCh37	16	15125629	15125629	+	synonymous_variant	Silent	SNP	A	A	T	rs752455437	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	11	90	0	ENST00000396410.4:c.1437A>T	p.Val479=	p.V479=	ENST00000396410	NM_015027.2	479	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32393.1	1437	MUTECT|MUSE	.	CTCGTAGCCTG	NONE	byFrequency	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73,Superfamily_domains:SSF53383	.	.	ENSP00000379691	.	17/23	.	.	.	.	.	.	.	.	rs752455437	17/23	PASS	ENST00000396410	Transcript	.	.	ENSG00000179889	28995	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDXD1_HUMAN	PDXDC1	HGNC	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN	.	UPI000004A864	SNV	PDXDC1,synonymous_variant,p.%3D,ENST00000569715,;PDXDC1,synonymous_variant,p.%3D,ENST00000325823,;PDXDC1,synonymous_variant,p.%3D,ENST00000396410,;PDXDC1,synonymous_variant,p.%3D,ENST00000450288,;PDXDC1,synonymous_variant,p.%3D,ENST00000447912,;PDXDC1,synonymous_variant,p.%3D,ENST00000563679,;PDXDC1,intron_variant,,ENST00000535621,;PDXDC1,downstream_gene_variant,,ENST00000455313,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000566633,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,intron_variant,,ENST00000562119,;PDXDC1,upstream_gene_variant,,ENST00000565986,;	1534	90	111	SUCCESS
NDUFB10	4716	.	GRCh37	16	2009700	2009700	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	7	134	0	ENST00000268668.6:c.75C>T	p.Val25=	p.V25=	ENST00000268668	NM_004548.2	25	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10451.1	75	MUTECT|MUSE	.	ATCGTCTACAT	NONE	.	.	hmmpanther:PTHR13094:SF1,hmmpanther:PTHR13094	.	.	ENSP00000268668	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000268668	Transcript	.	.	ENSG00000140990	7696	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUBA_HUMAN	NDUFB10	HGNC	Q96RX5_HUMAN,A8K761_HUMAN	.	UPI000013D7D0	SNV	NDUFB10,synonymous_variant,p.%3D,ENST00000543683,;NDUFB10,synonymous_variant,p.%3D,ENST00000268668,;NDUFB10,synonymous_variant,p.%3D,ENST00000569148,;NDUFB10,synonymous_variant,p.%3D,ENST00000570172,;RPL3L,upstream_gene_variant,,ENST00000565426,;RPL3L,upstream_gene_variant,,ENST00000268661,;RPS2,downstream_gene_variant,,ENST00000533186,;RPS2,downstream_gene_variant,,ENST00000526522,;RPS2,downstream_gene_variant,,ENST00000563194,;RPS2,downstream_gene_variant,,ENST00000530225,;RPS2,downstream_gene_variant,,ENST00000527302,;RPS2,downstream_gene_variant,,ENST00000343262,;RPS2,downstream_gene_variant,,ENST00000529806,;RPS2,downstream_gene_variant,,ENST00000526586,;SNORA10,downstream_gene_variant,,ENST00000384084,;SNORA64,downstream_gene_variant,,ENST00000384674,;RPL3L,upstream_gene_variant,,ENST00000566484,;NDUFB10,non_coding_transcript_exon_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000526908,;RPS2,downstream_gene_variant,,ENST00000532746,;RPS2,downstream_gene_variant,,ENST00000527826,;RPS2,downstream_gene_variant,,ENST00000527109,;RPS2,downstream_gene_variant,,ENST00000531065,;RPS2,downstream_gene_variant,,ENST00000534461,;RPS2,downstream_gene_variant,,ENST00000527871,;RPS2,downstream_gene_variant,,ENST00000533161,;RPS2,downstream_gene_variant,,ENST00000533872,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	192	134	193	SUCCESS
ERN2	10595	.	GRCh37	16	23713784	23713784	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	37	0	ENST00000256797.4:c.1152A>G	p.Arg384=	p.R384=	ENST00000256797	NM_033266.3	384	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS32407.1	1152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTCGCTC	NONE	.	.	hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954	.	.	ENSP00000256797	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,synonymous_variant,p.%3D,ENST00000457008,;ERN2,synonymous_variant,p.%3D,ENST00000256797,;ERN2,3_prime_UTR_variant,,ENST00000562562,;ERN2,downstream_gene_variant,,ENST00000561478,;ERN2,downstream_gene_variant,,ENST00000566565,;	1321	37	38	SUCCESS
ITGAL	3683	.	GRCh37	16	30484108	30484108	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs773959642	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	58	0	ENST00000356798.6:c.-51G>C		p.*17*	ENST00000356798	NM_002209.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32433.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACGGGCCT	NONE	.	.	.	.	.	ENSP00000349252	.	1/31	.	.	.	.	.	.	.	.	rs773959642	1/31	PASS	ENST00000356798	Transcript	.	.	ENSG00000005844	6148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAL_HUMAN	ITGAL	HGNC	I3L468_HUMAN,H3BNL5_HUMAN	.	UPI000013C4FF	SNV	ITGAL,5_prime_UTR_variant,,ENST00000454514,;ITGAL,5_prime_UTR_variant,,ENST00000433423,;ITGAL,5_prime_UTR_variant,,ENST00000358164,;ITGAL,5_prime_UTR_variant,,ENST00000356798,;ITGAL,5_prime_UTR_variant,,ENST00000564118,;ITGAL,upstream_gene_variant,,ENST00000569725,;Y_RNA,downstream_gene_variant,,ENST00000410769,;RP11-297C4.2,downstream_gene_variant,,ENST00000569459,;ITGAL,non_coding_transcript_exon_variant,,ENST00000569570,;ITGAL,non_coding_transcript_exon_variant,,ENST00000565348,;ITGAL,5_prime_UTR_variant,,ENST00000565864,;ITGAL,5_prime_UTR_variant,,ENST00000568926,;ITGAL,5_prime_UTR_variant,,ENST00000562652,;ITGAL,5_prime_UTR_variant,,ENST00000562857,;	130	58	75	SUCCESS
CLEC18A	348174	.	GRCh37	16	69996947	69996947	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs572946455	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	13	194	0	ENST00000288040.6:c.1280G>A	p.Arg427Gln	p.R427Q	ENST00000288040	NM_001136214.2	427	cGa/cAa	0	.	A:0.0008	.	A:0	.	A	R/Q	protein_coding	YES	CCDS10886.1	1280	MUTECT|MUSE	.	AACCCGAAACC	NONE	by1000G	.	PROSITE_profiles:PS50041,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	A:0	.	ENSP00000288040	A:0	11/12	.	.	.	.	.	.	.	.	rs572946455	11/12	PASS	ENST00000288040	Transcript	.	A:0.0002	ENSG00000157322	30388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.899)	A:0	deleterious_low_confidence(0.03)	.	CL18A_HUMAN	CLEC18A	HGNC	.	.	UPI0000246CC5	SNV	CLEC18A,missense_variant,p.Arg427Gln,ENST00000288040,;CLEC18A,missense_variant,p.Arg436Gln,ENST00000449317,;CLEC18A,missense_variant,p.Arg427Gln,ENST00000393701,;CLEC18A,missense_variant,p.Arg427Gln,ENST00000568461,;CLEC18A,downstream_gene_variant,,ENST00000561889,;CLEC18A,non_coding_transcript_exon_variant,,ENST00000568102,;CLEC18A,downstream_gene_variant,,ENST00000565705,;	1467	194	216	SUCCESS
WDR90	197335	.	GRCh37	16	712038	712038	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	33	0	ENST00000293879.4:c.4012G>T	p.Glu1338Ter	p.E1338*	ENST00000293879		1338	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42092.1	4012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGAGGCG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF10,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998,Superfamily_domains:SSF50998	.	.	ENSP00000293879	.	32/41	.	.	.	.	.	.	.	.	.	32/41	PASS	ENST00000293879	Transcript	.	.	ENSG00000161996	26960	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,stop_gained,p.Glu1338Ter,ENST00000549091,;WDR90,stop_gained,p.Glu1338Ter,ENST00000293879,;WDR90,upstream_gene_variant,,ENST00000547944,;WDR90,upstream_gene_variant,,ENST00000551100,;WDR90,downstream_gene_variant,,ENST00000550739,;WDR90,upstream_gene_variant,,ENST00000546896,;WDR90,upstream_gene_variant,,ENST00000315764,;WDR90,upstream_gene_variant,,ENST00000547543,;WDR90,downstream_gene_variant,,ENST00000548844,;WDR90,upstream_gene_variant,,ENST00000548603,;WDR90,downstream_gene_variant,,ENST00000552648,;WDR90,3_prime_UTR_variant,,ENST00000552728,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,non_coding_transcript_exon_variant,,ENST00000550902,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000546923,;WDR90,non_coding_transcript_exon_variant,,ENST00000552683,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,upstream_gene_variant,,ENST00000548448,;WDR90,downstream_gene_variant,,ENST00000552943,;WDR90,upstream_gene_variant,,ENST00000553080,;WDR90,downstream_gene_variant,,ENST00000548859,;	4012	33	36	SUCCESS
PMFBP1	83449	.	GRCh37	16	72170637	72170637	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144745394	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	82	0	ENST00000237353.10:c.1000G>A	p.Val334Met	p.V334M	ENST00000237353	NM_031293.2	334	Gtg/Atg	0	T:0.0002	.	.	.	.	T	V/M	protein_coding	YES	CCDS32483.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACGCGCA	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	.	T:0	ENSP00000237353	.	8/21	.	.	.	.	.	.	.	.	rs144745394	8/21	PASS	ENST00000237353	Transcript	.	.	ENSG00000118557	17728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	PMFBP_HUMAN	PMFBP1	HGNC	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN	.	UPI0000141554	SNV	PMFBP1,missense_variant,p.Val189Met,ENST00000355636,;PMFBP1,missense_variant,p.Val334Met,ENST00000237353,;PMFBP1,missense_variant,p.Val334Met,ENST00000537465,;PMFBP1,missense_variant,p.Val137Met,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;	1262	82	82	SUCCESS
CLEC18B	497190	.	GRCh37	16	74443471	74443471	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745534108	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	20	165	0	ENST00000339953.5:c.1307G>A	p.Arg436Gln	p.R436Q	ENST00000339953	NM_001011880.2	436	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS32484.1	1307	MUTECT|MUSE|VARSCANS	.	GGTTTCGGGTT	NONE	.	.	Superfamily_domains:SSF56436,SMART_domains:SM00034,Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_patterns:PS00615,PROSITE_profiles:PS50041	.	.	ENSP00000341051	.	12/13	.	.	.	.	.	.	.	.	rs745534108	12/13	PASS	ENST00000339953	Transcript	.	.	ENSG00000140839	33849	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.899)	.	deleterious_low_confidence(0.02)	.	CL18B_HUMAN	CLEC18B	HGNC	.	.	UPI000025210E	SNV	CLEC18B,missense_variant,p.Arg436Gln,ENST00000339953,;CLEC18B,downstream_gene_variant,,ENST00000425714,;CLEC18B,downstream_gene_variant,,ENST00000564842,;	1429	165	220	SUCCESS
KRT16P2	400578	.	GRCh37	17	16735648	16735648	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	62	0	ENST00000399048.2:n.500G>A		p.*167*	ENST00000399048				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCCTCCA	NONE	.	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000399048	Transcript	.	.	ENSG00000227300	37807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KRT16P2	HGNC	.	.	.	SNV	KRT16P2,non_coding_transcript_exon_variant,,ENST00000579062,;KRT16P2,non_coding_transcript_exon_variant,,ENST00000399048,;KRT16P2,non_coding_transcript_exon_variant,,ENST00000414673,;	500	62	49	SUCCESS
NF1	4763	.	GRCh37	17	29654655	29654655	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs559910904	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	51	154	0	ENST00000358273.4:c.5407A>G	p.Ile1803Val	p.I1803V	ENST00000358273	NM_001042492.2	1803	Att/Gtt	0	.	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS42292.1	5407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	TAACCATTGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	G:0	.	ENSP00000351015	G:0	38/58	.	.	.	.	.	.	.	.	rs559910904	38/58	PASS	ENST00000358273	Transcript	.	G:0.0004	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.018)	G:0.002	tolerated(0.05)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Ile1448Val,ENST00000456735,;NF1,missense_variant,p.Ile1803Val,ENST00000358273,;NF1,missense_variant,p.Ile1782Val,ENST00000356175,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,;	5790	154	99	SUCCESS
ATXN7L3	56970	.	GRCh37	17	42275081	42275081	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1463318257	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	54	71	0	ENST00000389384.4:c.69A>G	p.Ile23Met	p.I23M	ENST00000389384	NM_001098833.1	23	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS45697.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTATATCTC	NONE	.	.	HAMAP:MF_03047,hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF6	.	.	ENSP00000397259	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000454077	Transcript	.	.	ENSG00000087152	25416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.817)	.	deleterious(0)	.	AT7L3_HUMAN	ATXN7L3	HGNC	K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN	.	UPI00001613AC	SNV	ATXN7L3,missense_variant,p.Ile23Met,ENST00000590169,;ATXN7L3,missense_variant,p.Ile23Met,ENST00000589805,;ATXN7L3,missense_variant,p.Ile23Met,ENST00000587097,;ATXN7L3,missense_variant,p.Ile23Met,ENST00000454077,;ATXN7L3,missense_variant,p.Ile23Met,ENST00000389384,;ATXN7L3,upstream_gene_variant,,ENST00000591295,;ATXN7L3,upstream_gene_variant,,ENST00000590537,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,intron_variant,,ENST00000593073,;ATXN7L3,upstream_gene_variant,,ENST00000587022,;ATXN7L3,upstream_gene_variant,,ENST00000589607,;ATXN7L3,upstream_gene_variant,,ENST00000591807,;ATXN7L3,upstream_gene_variant,,ENST00000586688,;	69	71	143	SUCCESS
NPEPPS	9520	.	GRCh37	17	45682765	45682765	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	56	129	0	ENST00000322157.4:c.1942A>C	p.Asn648His	p.N648H	ENST00000322157	NM_006310.3	648	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS45721.1	1942	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAATTAT	NONE	.	.	hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF163,Pfam_domain:PF11838	.	.	ENSP00000320324	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000322157	Transcript	.	.	ENSG00000141279	7900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PSA_HUMAN	NPEPPS	HGNC	E9PJ74_HUMAN,B7Z1H4_HUMAN	.	UPI0000140D51	SNV	NPEPPS,missense_variant,p.Asn644His,ENST00000530173,;NPEPPS,missense_variant,p.Asn648His,ENST00000322157,;NPEPPS,missense_variant,p.Asn568His,ENST00000544660,;RP11-580I16.2,intron_variant,,ENST00000582389,;RP11-580I16.2,intron_variant,,ENST00000582066,;NPEPPS,3_prime_UTR_variant,,ENST00000530514,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000531486,;NPEPPS,intron_variant,,ENST00000525048,;NPEPPS,downstream_gene_variant,,ENST00000534807,;	2179	129	124	SUCCESS
FAM117A	81558	.	GRCh37	17	47797246	47797246	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs780032318	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	16	0	ENST00000240364.2:c.584C>G	p.Pro195Arg	p.P195R	ENST00000240364	NM_030802.3	195	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS11553.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGAGGG	NONE	.	.	hmmpanther:PTHR14972:SF7,hmmpanther:PTHR14972,Pfam_domain:PF15388	.	.	ENSP00000240364	.	5/8	.	.	.	.	.	.	.	.	rs780032318	5/8	PASS	ENST00000240364	Transcript	.	.	ENSG00000121104	24179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	tolerated(0.07)	.	F117A_HUMAN	FAM117A	HGNC	B7Z7Q3_HUMAN	.	UPI00000503DC	SNV	FAM117A,missense_variant,p.Pro85Arg,ENST00000511743,;FAM117A,missense_variant,p.Pro195Arg,ENST00000240364,;FAM117A,missense_variant,p.Pro163Arg,ENST00000506156,;FAM117A,5_prime_UTR_variant,,ENST00000513602,;RP11-613C6.2,non_coding_transcript_exon_variant,,ENST00000512720,;FAM117A,non_coding_transcript_exon_variant,,ENST00000515240,;FAM117A,non_coding_transcript_exon_variant,,ENST00000503855,;FAM117A,non_coding_transcript_exon_variant,,ENST00000505159,;FAM117A,non_coding_transcript_exon_variant,,ENST00000514018,;FAM117A,downstream_gene_variant,,ENST00000503720,;FAM117A,downstream_gene_variant,,ENST00000509347,;FAM117A,missense_variant,p.Pro4Arg,ENST00000503573,;FAM117A,downstream_gene_variant,,ENST00000514841,;	664	16	19	SUCCESS
ABCC3	8714	.	GRCh37	17	48746768	48746768	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1283576523	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	93	0	ENST00000285238.8:c.2120A>G	p.Glu707Gly	p.E707G	ENST00000285238	NM_003786.3	707	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32681.1	2120	MUTECT|MUSE	.	TCAGGAAAACG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000285238	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.683)	.	deleterious(0.02)	.	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Glu707Gly,ENST00000285238,;ABCC3,upstream_gene_variant,,ENST00000513745,;ABCC3,downstream_gene_variant,,ENST00000427699,;ABCC3,non_coding_transcript_exon_variant,,ENST00000503304,;ABCC3,downstream_gene_variant,,ENST00000513589,;ABCC3,upstream_gene_variant,,ENST00000506464,;ABCC3,upstream_gene_variant,,ENST00000510891,;ABCC3,missense_variant,p.Glu707Gly,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000502426,;ABCC3,upstream_gene_variant,,ENST00000510633,;ABCC3,downstream_gene_variant,,ENST00000571855,;	2200	93	100	SUCCESS
DNAI2	64446	.	GRCh37	17	72285824	72285824	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	89	0	ENST00000311014.6:c.559T>A	p.Phe187Ile	p.F187I	ENST00000311014		187	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS11697.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATTTTCAG	NONE	.	.	hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000400252	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000446837	Transcript	.	.	ENSG00000171595	18744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	DNAI2_HUMAN	DNAI2	HGNC	.	.	UPI000013EC1D	SNV	DNAI2,missense_variant,p.Phe44Ile,ENST00000307504,;DNAI2,missense_variant,p.Phe187Ile,ENST00000446837,;DNAI2,missense_variant,p.Phe187Ile,ENST00000582036,;DNAI2,missense_variant,p.Phe244Ile,ENST00000579490,;DNAI2,missense_variant,p.Phe187Ile,ENST00000311014,;DNAI2,missense_variant,p.Phe146Tyr,ENST00000579055,;	865	89	95	SUCCESS
TP53	7157	.	GRCh37	17	7579369	7579369	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1555526581	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	73	203	0	ENST00000269305.4:c.318C>G	p.Ser106Arg	p.S106R	ENST00000269305	NM_001126112.2	106	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS11118.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTAGCTGCC	SITE|p.S106R|c.318C>G|3,SITE|p.S106R|c.318C>G|3,SITE|p.S106R|c.318C>G|6,CODON|p.0?|c.1_1182del1182|6,CODON|p.G59fs*23|c.175_374del200|3,BUFFER|p.R110fs*13|c.329delG|3,BUFFER|p.R110fs*13|c.328delC|4,BUFFER|p.R110L|c.329G>T|27,BUFFER|p.R110P|c.329G>C|11,BUFFER|p.R110L|c.329G>T|5,BUFFER|p.R110L|c.329G>T|8,BUFFER|p.R110L|c.329G>T|8,BUFFER|p.R110C|c.328C>T|6,BUFFER|p.F109C|c.326T>G|3,BUFFER|p.F109C|c.326T>G|4,BUFFER|p.F109C|c.326T>G|3,BUFFER|p.G108delG|c.322_324delGGT|3,BUFFER|p.G108fs*15|c.323delG|3,BUFFER|p.G108fs*15|c.323delG|3,BUFFER|p.G108fs*15|c.323delG|3,BUFFER|p.Y107*|c.321C>A|6,BUFFER|p.Y107Y|c.321C>T|3,BUFFER|p.Y107*|c.321C>G|3,BUFFER|p.Y107D|c.319T>G|7,BUFFER|p.Y107D|c.319T>G|7,BUFFER|p.Y107D|c.319T>G|8,BUFFER|p.G105D|c.314G>A|3,BUFFER|p.G105C|c.313G>T|7,BUFFER|p.G105R|c.313G>C|4,BUFFER|p.Q104*|c.310C>T|8,BUFFER|p.Q104*|c.310C>T|8,BUFFER|p.Q104*|c.310C>T|14,BUFFER|p.Y103*|c.309C>G|5,BUFFER|p.Y103*|c.309C>A|3,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|9	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	CM013441,TP53_g.11549C>G,COSM45944,COSM1735720,COSM1610878,COSM1610879,COSM3717683,COSM2745028	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,1,1,1,1,1,1	.	.	benign(0.27)	.	tolerated(0.41)	0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ser106Arg,ENST00000508793,;TP53,missense_variant,p.Ser106Arg,ENST00000413465,;TP53,missense_variant,p.Ser106Arg,ENST00000604348,;TP53,missense_variant,p.Ser106Arg,ENST00000420246,;TP53,missense_variant,p.Ser106Arg,ENST00000269305,;TP53,missense_variant,p.Ser106Arg,ENST00000359597,;TP53,missense_variant,p.Ser106Arg,ENST00000445888,;TP53,missense_variant,p.Ser106Arg,ENST00000503591,;TP53,missense_variant,p.Ser106Arg,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	508	203	100	SUCCESS
PRKACA	5566	.	GRCh37	19	14208652	14208652	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	43	119	0	ENST00000308677.4:c.470A>G	p.Tyr157Cys	p.Y157C	ENST00000308677	NM_002730.3	157	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS12304.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATACTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF55,hmmpanther:PTHR24353,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000309591	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000308677	Transcript	1	.	ENSG00000072062	9380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KAPCA_HUMAN	PRKACA	HGNC	K7EMV1_HUMAN	.	UPI0000001C8D	SNV	PRKACA,missense_variant,p.Tyr140Cys,ENST00000593092,;PRKACA,missense_variant,p.Tyr157Cys,ENST00000308677,;PRKACA,missense_variant,p.Tyr112Cys,ENST00000587372,;PRKACA,missense_variant,p.Tyr149Cys,ENST00000589994,;PRKACA,intron_variant,,ENST00000590853,;PRKACA,non_coding_transcript_exon_variant,,ENST00000350356,;PRKACA,non_coding_transcript_exon_variant,,ENST00000588209,;PRKACA,non_coding_transcript_exon_variant,,ENST00000536649,;PRKACA,non_coding_transcript_exon_variant,,ENST00000587533,;	667	119	163	SUCCESS
MAP1S	55201	.	GRCh37	19	17837405	17837405	+	synonymous_variant	Silent	SNP	C	C	T	rs374141963	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	68	0	ENST00000324096.4:c.1212C>T	p.Gly404=	p.G404=	ENST00000324096	NM_018174.4	404	ggC/ggT	0	T:0.0005	T:0.0008	.	T:0	.	T	G	protein_coding	YES	CCDS32954.1	1212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCGCCGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR13843	T:0	T:0	ENSP00000325313	T:0	5/7	.	.	.	.	.	.	.	.	rs374141963	5/7	PASS	ENST00000324096	Transcript	.	T:0.0002	ENSG00000130479	15715	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,synonymous_variant,p.%3D,ENST00000544059,;MAP1S,synonymous_variant,p.%3D,ENST00000324096,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;	1363	68	67	SUCCESS
ZNF99	7652	.	GRCh37	19	22952081	22952081	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs149345966	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	89	205	0	ENST00000596209.1:c.49G>T	p.Glu17Ter	p.E17*	ENST00000596209	NM_001080409.2	17	Gag/Tag	0	T:0.0139	T:0.0129	.	T:0.0014	.	A	E/*	protein_coding	YES	CCDS59369.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCCTCCA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50805	T:0	T:0.0001	ENSP00000472969	T:0	2/4	.	.	.	.	.	.	.	.	rs149345966,COSM3531775	2/4	PASS	ENST00000596209	Transcript	.	T:0.0038	ENSG00000213973	13175	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.001	.	0,1	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,stop_gained,p.Glu38Ter,ENST00000397104,;ZNF99,stop_gained,p.Glu17Ter,ENST00000596209,;CTB-159G17.2,upstream_gene_variant,,ENST00000600724,;	140	205	242	SUCCESS
LRFN1	57622	.	GRCh37	19	39805143	39805143	+	synonymous_variant	Silent	SNP	G	G	A	rs774384259	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	39	76	0	ENST00000248668.4:c.834C>T	p.Pro278=	p.P278=	ENST00000248668	NM_020862.1	278	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46071.1	834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCGGGCGT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373	.	.	ENSP00000248668	.	1/2	.	.	.	.	.	.	.	.	rs774384259	1/2	PASS	ENST00000248668	Transcript	.	.	ENSG00000128011	29290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN1_HUMAN	LRFN1	HGNC	.	.	UPI00001A5C55	SNV	LRFN1,synonymous_variant,p.%3D,ENST00000248668,;CTC-246B18.8,downstream_gene_variant,,ENST00000601911,;	834	76	81	SUCCESS
MYBPC2	4606	.	GRCh37	19	50958529	50958529	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	93	0	ENST00000357701.5:c.2179A>G	p.Asn727Asp	p.N727D	ENST00000357701	NM_004533.3	727	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS46152.1	2179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGAACACC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000350332	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000357701	Transcript	.	.	ENSG00000086967	7550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	tolerated(0.22)	.	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,missense_variant,p.Asn727Asp,ENST00000357701,;	2230	93	93	SUCCESS
SSC5D	284297	.	GRCh37	19	56028598	56028598	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	50	0	ENST00000389623.6:c.2955G>T	p.Pro985=	p.P985=	ENST00000389623	NM_001144950.1	985	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS46196.1	2955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGAGGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000374274	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000389623	Transcript	.	.	ENSG00000179954	26641	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCRL_HUMAN	SSC5D	HGNC	M0QZ17_HUMAN	.	UPI000192952A	SNV	SSC5D,synonymous_variant,p.%3D,ENST00000389623,;	2978	50	49	SUCCESS
RNF126	55658	.	GRCh37	19	651657	651657	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	69	0	ENST00000292363.5:c.397A>T	p.Thr133Ser	p.T133S	ENST00000292363	NM_194460.2	133	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS12039.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGTGGTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22763:SF1,hmmpanther:PTHR22763	.	.	ENSP00000292363	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000292363	Transcript	.	.	ENSG00000070423	21151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.81)	.	RN126_HUMAN	RNF126	HGNC	Q9NPN4_HUMAN,O60372_HUMAN	.	UPI000006F904	SNV	RNF126,missense_variant,p.Thr122Ser,ENST00000606702,;RNF126,missense_variant,p.Thr133Ser,ENST00000292363,;RNF126,missense_variant,p.Thr118Ser,ENST00000606896,;RNF126,missense_variant,p.Thr100Ser,ENST00000592418,;RNF126,intron_variant,,ENST00000589762,;RNF126,3_prime_UTR_variant,,ENST00000605891,;RNF126,non_coding_transcript_exon_variant,,ENST00000591394,;RNF126,non_coding_transcript_exon_variant,,ENST00000590885,;RNF126,non_coding_transcript_exon_variant,,ENST00000591356,;RNF126,upstream_gene_variant,,ENST00000591452,;RNF126,upstream_gene_variant,,ENST00000586749,;RNF126,downstream_gene_variant,,ENST00000592626,;	553	69	67	SUCCESS
MUC16	94025	.	GRCh37	19	9057497	9057497	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	65	117	0	ENST00000397910.4:c.29949C>T	p.Thr9983=	p.T9983=	ENST00000397910	NM_024690.2	9983	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54212.1	29949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGGGTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	30153	117	160	SUCCESS
ATP1A1OS	0	.	GRCh37	1	116948612	116948612	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	56	98	0	ENST00000369492.4:n.533C>T		p.*178*	ENST00000369492				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53351.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGGCCCAG	NONE	.	1218	.	.	.	ENSP00000445306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,intron_variant,,ENST00000440951,;ATP1A1,downstream_gene_variant,,ENST00000537345,;ATP1A1,downstream_gene_variant,,ENST00000295598,;ATP1A1,downstream_gene_variant,,ENST00000369496,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369492,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369491,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1,upstream_gene_variant,,ENST00000495965,;ATP1A1,downstream_gene_variant,,ENST00000479960,;	.	98	113	SUCCESS
C1orf167	284498	.	GRCh37	1	11844517	11844517	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	99	0	ENST00000433342.1:c.3364G>T	p.Ala1122Ser	p.A1122S	ENST00000433342		1122	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	3364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGGCCCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000414909	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000433342	Transcript	.	.	ENSG00000215910	25262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	deleterious(0.01)	.	CA167_HUMAN	C1orf167	HGNC	.	.	UPI00015C73CD	SNV	C1orf167,missense_variant,p.Ala208Ser,ENST00000449278,;C1orf167,missense_variant,p.Ala482Ser,ENST00000312793,;C1orf167,missense_variant,p.Ala1122Ser,ENST00000433342,;C1orf167,missense_variant,p.Ala265Ser,ENST00000444493,;MTHFR,downstream_gene_variant,,ENST00000376585,;MTHFR,downstream_gene_variant,,ENST00000376590,;MTHFR,downstream_gene_variant,,ENST00000376583,;MTHFR,downstream_gene_variant,,ENST00000376592,;RP11-56N19.5,upstream_gene_variant,,ENST00000376620,;C1orf167,upstream_gene_variant,,ENST00000482358,;C1orf167,upstream_gene_variant,,ENST00000475041,;	3364	99	117	SUCCESS
DHRS3	9249	.	GRCh37	1	12640426	12640426	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	34	0	ENST00000376223.2:c.339+125C>T		p.*113*	ENST00000376223	NM_004753.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS146.1	.	MUTECT|MUSE	.	CAAAGGTGCCC	NONE	.	.	.	.	.	ENSP00000365397	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376223	Transcript	.	.	ENSG00000162496	17693	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHRS3_HUMAN	DHRS3	HGNC	Q5SUY4_HUMAN,Q0QD44_HUMAN	.	UPI000006EE74	SNV	DHRS3,intron_variant,,ENST00000376223,;DHRS3,intron_variant,,ENST00000430996,;DHRS3,non_coding_transcript_exon_variant,,ENST00000482265,;DHRS3,intron_variant,,ENST00000464917,;	.	34	35	SUCCESS
ATAD3A	55210	.	GRCh37	1	1455986	1455986	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	325	9	290	0	ENST00000378755.5:c.883G>C	p.Val295Leu	p.V295L	ENST00000378755	NM_018188.3	295	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS31.1	883	MUTECT|MUSE	.	ACAAAGTGACA	NONE	.	.	hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF4,Pfam_domain:PF12037	.	.	ENSP00000368030	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000378755	Transcript	.	.	ENSG00000197785	25567	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	.	tolerated(0.28)	.	ATD3A_HUMAN	ATAD3A	HGNC	.	.	UPI000013D456	SNV	ATAD3A,missense_variant,p.Val168Leu,ENST00000536055,;ATAD3A,missense_variant,p.Val247Leu,ENST00000378756,;ATAD3A,missense_variant,p.Val233Leu,ENST00000339113,;ATAD3A,missense_variant,p.Val295Leu,ENST00000378755,;ATAD3A,upstream_gene_variant,,ENST00000400830,;ATAD3A,non_coding_transcript_exon_variant,,ENST00000429957,;ATAD3A,downstream_gene_variant,,ENST00000439513,;	977	290	334	SUCCESS
INSRR	3645	.	GRCh37	1	156814633	156814633	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs754148353	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	54	77	0	ENST00000368195.3:c.2440G>A	p.Glu814Lys	p.E814K	ENST00000368195	NM_014215.2	814	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1160.1	2440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCTCCTG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265	.	.	ENSP00000357178	.	13/22	.	.	.	.	.	.	.	.	rs754148353	13/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated(1)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Glu814Lys,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	2837	77	107	SUCCESS
SLAMF7	57823	.	GRCh37	1	160721146	160721146	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	6	94	0	ENST00000368043.3:c.781G>C	p.Glu261Gln	p.E261Q	ENST00000368043	NM_021181.3	261	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS1209.1	781	MUTECT|MUSE	.	TTGAAGAGAAG	NONE	.	.	hmmpanther:PTHR12080:SF46,hmmpanther:PTHR12080	.	.	ENSP00000357022	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000368043	Transcript	.	.	ENSG00000026751	21394	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.303)	.	tolerated(0.09)	.	SLAF7_HUMAN	SLAMF7	HGNC	.	.	UPI00000389DC	SNV	SLAMF7,missense_variant,p.Glu261Gln,ENST00000368043,;SLAMF7,missense_variant,p.Glu114Gln,ENST00000458602,;SLAMF7,missense_variant,p.Glu154Gln,ENST00000368042,;SLAMF7,missense_variant,p.Glu130Gln,ENST00000441662,;SLAMF7,intron_variant,,ENST00000359331,;SLAMF7,intron_variant,,ENST00000495334,;SLAMF7,intron_variant,,ENST00000444090,;SLAMF7,intron_variant,,ENST00000458104,;SLAMF7,downstream_gene_variant,,ENST00000488819,;SLAMF7,non_coding_transcript_exon_variant,,ENST00000484221,;	818	94	136	SUCCESS
FBXO42	54455	.	GRCh37	1	16577701	16577701	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	36	85	0	ENST00000375592.3:c.1618C>G	p.Pro540Ala	p.P540A	ENST00000375592	NM_018994.1	540	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS30613.1	1618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGGGTAT	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF250	.	.	ENSP00000364742	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0.01)	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	SNV	FBXO42,missense_variant,p.Pro540Ala,ENST00000375592,;FBXO42,missense_variant,p.Pro258Ala,ENST00000444116,;FBXO42,missense_variant,p.Pro258Ala,ENST00000456164,;	1835	85	70	SUCCESS
KIAA0040	9674	.	GRCh37	1	175130284	175130284	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	22	0	ENST00000545251.2:c.-133-2A>G		p.X45_splice	ENST00000545251		45		0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GCACCTGAAGA	NONE	.	.	.	.	.	ENSP00000464040	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545251	Transcript	.	.	ENSG00000235750	28950	.	.	HIGH	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KIAA0040	HGNC	J3QR46_HUMAN	.	UPI0000203C32	SNV	KIAA0040,splice_acceptor_variant,,ENST00000444639,;KIAA0040,splice_acceptor_variant,,ENST00000545251,;KIAA0040,splice_acceptor_variant,,ENST00000423313,;KIAA0040,splice_acceptor_variant,,ENST00000567124,;KIAA0040,splice_acceptor_variant,,ENST00000563563,;	.	22	42	SUCCESS
RCC2	55920	.	GRCh37	1	17743015	17743015	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	69	0	ENST00000375433.3:c.987C>T	p.Asn329=	p.N329=	ENST00000375433	NM_001136204.2	329	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS181.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACGTTTGG	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF146,Pfam_domain:PF00415,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000364585	.	8/13	.	.	.	.	.	.	.	.	COSM900088	8/13	PASS	ENST00000375436	Transcript	.	.	ENSG00000179051	30297	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RCC2_HUMAN	RCC2	HGNC	.	.	UPI0000074608	SNV	RCC2,synonymous_variant,p.%3D,ENST00000375436,;RCC2,synonymous_variant,p.%3D,ENST00000375433,;AC004824.1,upstream_gene_variant,,ENST00000583469,;	1175	69	81	SUCCESS
LAX1	54900	.	GRCh37	1	203743135	203743135	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	55	101	0	ENST00000442561.2:c.523A>G	p.Asn175Asp	p.N175D	ENST00000442561	NM_017773.3	175	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1441.2	523	RADIA|MUTECT|MUSE	.	GCATCAATGTC	NONE	.	.	hmmpanther:PTHR24091	.	.	ENSP00000406970	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000442561	Transcript	.	.	ENSG00000122188	26005	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.418)	.	deleterious(0.03)	.	LAX1_HUMAN	LAX1	HGNC	.	.	UPI000007446D	SNV	LAX1,missense_variant,p.Asn159Asp,ENST00000367217,;LAX1,missense_variant,p.Asn175Asp,ENST00000442561,;LAX1,non_coding_transcript_exon_variant,,ENST00000367215,;	913	101	163	SUCCESS
KIF17	57576	.	GRCh37	1	21036196	21036196	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	7	117	0	ENST00000247986.2:c.606G>C	p.Leu202=	p.L202=	ENST00000247986		202	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS213.1	606	MUTECT|MUSE	.	TTCATCAGCGT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000247986	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000247986	Transcript	.	.	ENSG00000117245	19167	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF17_HUMAN	KIF17	HGNC	.	.	UPI0000185F1A	SNV	KIF17,synonymous_variant,p.%3D,ENST00000247986,;KIF17,synonymous_variant,p.%3D,ENST00000400463,;KIF17,synonymous_variant,p.%3D,ENST00000375044,;	917	117	138	SUCCESS
USP48	84196	.	GRCh37	1	22054891	22054891	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	12	0	ENST00000308271.9:c.1450+172T>C		p.*484*	ENST00000308271	NM_032236.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30623.1	.	MUTECT|MUSE	.	ATGGAATGCTA	NONE	.	.	.	.	.	ENSP00000309262	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODIFIER	11/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,3_prime_UTR_variant,,ENST00000421625,;USP48,intron_variant,,ENST00000534705,;USP48,intron_variant,,ENST00000526044,;USP48,intron_variant,,ENST00000308271,;USP48,intron_variant,,ENST00000529637,;USP48,intron_variant,,ENST00000400301,;USP48,upstream_gene_variant,,ENST00000374732,;USP48,upstream_gene_variant,,ENST00000487880,;USP48,downstream_gene_variant,,ENST00000374730,;	.	12	14	SUCCESS
PDIK1L	149420	.	GRCh37	1	26449068	26449068	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	65	0	ENST00000374269.1:c.1026A>G	p.Ter342TrpextTer24	p.*342Wext*24	ENST00000374269		342	tgA/tgG	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS274.1	1026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGACACAT	NONE	.	.	.	.	.	ENSP00000363389	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374271	Transcript	.	.	ENSG00000175087	18981	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDK1L_HUMAN	PDIK1L	HGNC	.	.	UPI0000035B9E	SNV	PDIK1L,stop_lost,p.Ter342TrpextTer24,ENST00000374271,;PDIK1L,stop_lost,p.Ter342TrpextTer24,ENST00000374269,;PDIK1L,downstream_gene_variant,,ENST00000444713,;	1313	65	80	SUCCESS
TOE1	114034	.	GRCh37	1	45808300	45808300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	50	0	ENST00000372090.5:c.737A>G	p.Tyr246Cys	p.Y246C	ENST00000372090	NM_025077.3	246	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS521.1	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATATGCCT	NONE	.	.	Superfamily_domains:SSF53098,Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF24	.	.	ENSP00000361162	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000372090	Transcript	.	.	ENSG00000132773	15954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TOE1_HUMAN	TOE1	HGNC	B3KSC7_HUMAN	.	UPI00000382DE	SNV	TOE1,missense_variant,p.Tyr246Cys,ENST00000372090,;TOE1,missense_variant,p.Tyr166Cys,ENST00000539779,;MUTYH,upstream_gene_variant,,ENST00000372098,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000531105,;MUTYH,upstream_gene_variant,,ENST00000372110,;MUTYH,upstream_gene_variant,,ENST00000355498,;MUTYH,upstream_gene_variant,,ENST00000450313,;MUTYH,upstream_gene_variant,,ENST00000372104,;MUTYH,upstream_gene_variant,,ENST00000372115,;TESK2,downstream_gene_variant,,ENST00000341771,;TESK2,downstream_gene_variant,,ENST00000538496,;MUTYH,upstream_gene_variant,,ENST00000528013,;MUTYH,upstream_gene_variant,,ENST00000448481,;MUTYH,upstream_gene_variant,,ENST00000456914,;MUTYH,upstream_gene_variant,,ENST00000372100,;MUTYH,upstream_gene_variant,,ENST00000488731,;MUTYH,upstream_gene_variant,,ENST00000529984,;TESK2,downstream_gene_variant,,ENST00000372086,;MUTYH,upstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000435155,;TESK2,downstream_gene_variant,,ENST00000372084,;MUTYH,upstream_gene_variant,,ENST00000354383,;MUTYH,upstream_gene_variant,,ENST00000528332,;TOE1,non_coding_transcript_exon_variant,,ENST00000495703,;TOE1,non_coding_transcript_exon_variant,,ENST00000477731,;TOE1,non_coding_transcript_exon_variant,,ENST00000471337,;TOE1,non_coding_transcript_exon_variant,,ENST00000460057,;TESK2,downstream_gene_variant,,ENST00000486676,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000470256,;MUTYH,upstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485484,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000492494,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000479746,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000483642,;	1320	51	46	SUCCESS
ORC1	4998	.	GRCh37	1	52863529	52863529	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	96	175	0	ENST00000371566.1:c.230A>T	p.Asp77Val	p.D77V	ENST00000371566		77	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS566.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGATCAGAG	NONE	.	.	PROSITE_profiles:PS51038,hmmpanther:PTHR10763:SF6,hmmpanther:PTHR10763,Pfam_domain:PF01426,SMART_domains:SM00439	.	.	ENSP00000360623	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000371568	Transcript	.	.	ENSG00000085840	8487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated(0.11)	.	ORC1_HUMAN	ORC1	HGNC	.	.	UPI000013D2FB	SNV	ORC1,missense_variant,p.Asp77Val,ENST00000371566,;ORC1,missense_variant,p.Asp77Val,ENST00000371568,;	449	175	214	SUCCESS
TTC22	55001	.	GRCh37	1	55250439	55250439	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	65	138	1	ENST00000371276.4:c.1020+1217C>T		p.*340*	ENST00000371276	NM_001114108.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44152.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGGAGGA	NONE	.	.	.	.	.	ENSP00000360323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371276	Transcript	.	.	ENSG00000006555	26067	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC22_HUMAN	TTC22	HGNC	.	.	UPI0000470B73	SNV	TTC22,synonymous_variant,p.%3D,ENST00000448308,;TTC22,3_prime_UTR_variant,,ENST00000371274,;TTC22,intron_variant,,ENST00000371276,;TTC22,intron_variant,,ENST00000488771,;TTC22,downstream_gene_variant,,ENST00000474654,;	.	139	161	SUCCESS
RAVER2	55225	.	GRCh37	1	65278505	65278505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	79	0	ENST00000294428.3:c.1765A>G	p.Ser589Gly	p.S589G	ENST00000294428		589	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS41345.1	1726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAAGTGTG	NONE	.	.	hmmpanther:PTHR23189:SF6,hmmpanther:PTHR23189	.	.	ENSP00000360112	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000371072	Transcript	.	.	ENSG00000162437	25577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RAVR2_HUMAN	RAVER2	HGNC	.	.	UPI000043DED2	SNV	RAVER2,missense_variant,p.Ser589Gly,ENST00000294428,;RAVER2,missense_variant,p.Ser128Gly,ENST00000430964,;RAVER2,missense_variant,p.Ser576Gly,ENST00000371072,;RAVER2,3_prime_UTR_variant,,ENST00000418058,;	1804	79	70	SUCCESS
JAK1	3716	.	GRCh37	1	65332551	65332551	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	62	0	ENST00000342505.4:c.988A>T	p.Asn330Tyr	p.N330Y	ENST00000342505	NM_002227.2	330	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS41346.1	988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATTTGGTT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,PIRSF_domain:PIRSF000636	.	.	ENSP00000343204	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	deleterious(0.04)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Asn330Tyr,ENST00000342505,;JAK1,upstream_gene_variant,,ENST00000494904,;	1237	62	70	SUCCESS
C1orf173	0	.	GRCh37	1	75112352	75112352	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	168	323	0	ENST00000326665.5:c.242A>C	p.Glu81Ala	p.E81A	ENST00000326665	NM_001002912.4	81	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS30755.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTCCATA	NONE	.	.	hmmpanther:PTHR23034	.	.	ENSP00000322609	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,missense_variant,p.Glu81Ala,ENST00000326665,;	461	323	386	SUCCESS
MSH4	4438	.	GRCh37	1	76345739	76345739	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759216786	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	309	107	360	0	ENST00000263187.3:c.1682C>T	p.Ser561Phe	p.S561F	ENST00000263187	NM_002440.3	561	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS670.1	1682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTCTAAAG	NONE	byFrequency	.	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,Pfam_domain:PF05192,Pfam_domain:PF05190,SMART_domains:SM00533,Superfamily_domains:SSF48334	.	.	ENSP00000263187	.	13/20	.	.	.	.	.	.	.	.	rs759216786	13/20	PASS	ENST00000263187	Transcript	.	.	ENSG00000057468	7327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.03)	.	MSH4_HUMAN	MSH4	HGNC	Q5ZEZ0_HUMAN	.	UPI000006D934	SNV	MSH4,missense_variant,p.Ser561Phe,ENST00000263187,;	1786	360	417	SUCCESS
SYDE2	84144	.	GRCh37	1	85624884	85624884	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	51	88	0	ENST00000341460.5:c.3134A>T	p.Gln1045Leu	p.Q1045L	ENST00000341460	NM_032184.1	1045	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS44169.1	3134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTGCTCT	NONE	.	.	hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178	.	.	ENSP00000340594	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000341460	Transcript	.	.	ENSG00000097096	25841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.06)	.	SYDE2_HUMAN	SYDE2	HGNC	.	.	UPI0001553B04	SNV	SYDE2,missense_variant,p.Gln1045Leu,ENST00000341460,;	3184	88	111	SUCCESS
CLCA2	9635	.	GRCh37	1	86904629	86904629	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	5	97	0	ENST00000370565.4:c.1043T>A	p.Phe348Tyr	p.F348Y	ENST00000370565	NM_006536.5	348	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS708.1	1043	MUTECT|MUSE	.	TACCTTCGTGG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10579:SF39,hmmpanther:PTHR10579,Gene3D:3.40.50.410,Pfam_domain:PF13519,TIGRFAM_domain:TIGR00868,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000359596	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000370565	Transcript	.	.	ENSG00000137975	2016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.19)	.	CLCA2_HUMAN	CLCA2	HGNC	.	.	UPI0000035838	SNV	CLCA2,missense_variant,p.Phe348Tyr,ENST00000370565,;CLCA2,upstream_gene_variant,,ENST00000490884,;	1205	97	109	SUCCESS
XRN2	22803	.	GRCh37	20	21329027	21329027	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	77	0	ENST00000377191.3:c.1822A>T	p.Asn608Tyr	p.N608Y	ENST00000377191	NM_012255.3	608	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS13144.1	1822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTAATTTT	NONE	.	.	hmmpanther:PTHR12341,PIRSF_domain:PIRSF037239	.	.	ENSP00000366396	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0.01)	.	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,missense_variant,p.Asn554Tyr,ENST00000539513,;XRN2,missense_variant,p.Asn532Tyr,ENST00000430571,;XRN2,missense_variant,p.Asn608Tyr,ENST00000377191,;	1917	77	87	SUCCESS
POM121L4P	266697	.	GRCh37	22	21045206	21045206	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	12	0	ENST00000427789.3:n.990G>T		p.*330*	ENST00000427789				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	TGCCTGGGCCT	NONE	.	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000427789	Transcript	.	.	ENSG00000217261	19326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	POM121L4P	HGNC	.	.	.	SNV	POM121L4P,non_coding_transcript_exon_variant,,ENST00000412250,;POM121L4P,non_coding_transcript_exon_variant,,ENST00000427789,;	990	12	17	SUCCESS
MPPED1	758	.	GRCh37	22	43898542	43898542	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	44	0	ENST00000417669.2:c.767C>T	p.Pro256Leu	p.P256L	ENST00000417669		256	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS46723.1	767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCCAAGA	NONE	.	.	hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,Superfamily_domains:SSF56300	.	.	ENSP00000388137	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000417669	Transcript	.	.	ENSG00000186732	1306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	tolerated(0.73)	.	MPPD1_HUMAN	MPPED1	HGNC	Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN	.	UPI000006DF41	SNV	MPPED1,missense_variant,p.Pro98Leu,ENST00000439548,;MPPED1,missense_variant,p.Pro256Leu,ENST00000542779,;MPPED1,missense_variant,p.Pro256Leu,ENST00000443721,;MPPED1,missense_variant,p.Pro289Leu,ENST00000538182,;MPPED1,missense_variant,p.Pro256Leu,ENST00000417669,;MPPED1,missense_variant,p.Pro150Leu,ENST00000414469,;	1211	44	80	SUCCESS
SLC20A1	6574	.	GRCh37	2	113404985	113404985	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	67	204	0	ENST00000272542.3:c.419T>G	p.Phe140Cys	p.F140C	ENST00000272542	NM_005415.4	140	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS2099.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTTCTCCC	NONE	.	.	hmmpanther:PTHR11101:SF46,hmmpanther:PTHR11101,Pfam_domain:PF01384	.	.	ENSP00000272542	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000272542	Transcript	.	.	ENSG00000144136	10946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S20A1_HUMAN	SLC20A1	HGNC	A7LNJ1_HUMAN	.	UPI0000071362	SNV	SLC20A1,missense_variant,p.Phe140Cys,ENST00000272542,;SLC20A1,upstream_gene_variant,,ENST00000423633,;SLC20A1,upstream_gene_variant,,ENST00000433924,;AC079922.3,upstream_gene_variant,,ENST00000457336,;SLC20A1,upstream_gene_variant,,ENST00000480984,;SLC20A1,upstream_gene_variant,,ENST00000413135,;SLC20A1,upstream_gene_variant,,ENST00000498224,;SLC20A1,upstream_gene_variant,,ENST00000492076,;SLC20A1,upstream_gene_variant,,ENST00000456264,;	958	204	187	SUCCESS
NIFK	84365	.	GRCh37	2	122485594	122485594	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	90	0	ENST00000285814.4:c.694-106A>C		p.*232*	ENST00000285814	NM_032390.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2135.1	.	MUTECT|MUSE	.	ATTATTTTAGC	NONE	.	.	.	.	.	ENSP00000285814	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000285814	Transcript	.	.	ENSG00000155438	17838	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MK67I_HUMAN	NIFK	HGNC	C9J808_HUMAN	.	UPI00000738EB	SNV	NIFK,intron_variant,,ENST00000285814,;NIFK,intron_variant,,ENST00000423105,;NIFK,intron_variant,,ENST00000447132,;NIFK,downstream_gene_variant,,ENST00000451734,;NIFK-AS1,non_coding_transcript_exon_variant,,ENST00000419902,;NIFK,intron_variant,,ENST00000498570,;NIFK,intron_variant,,ENST00000481978,;NIFK,downstream_gene_variant,,ENST00000477693,;	.	90	50	SUCCESS
XIRP2	129446	.	GRCh37	2	168096409	168096409	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775702167	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	337	21	591	0	ENST00000409195.1:c.903G>T	p.Gln301His	p.Q301H	ENST00000409195	NM_152381.5	301	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS42769.1	903	MUTECT|MUSE	.	AGCCAGGAAAT	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	6/11	.	.	.	.	.	.	.	.	rs775702167	6/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Gln79His,ENST00000409605,;XIRP2,missense_variant,p.Gln79His,ENST00000409273,;XIRP2,missense_variant,p.Gln301His,ENST00000409195,;XIRP2,missense_variant,p.Gln334His,ENST00000420519,;XIRP2,missense_variant,p.Gln301His,ENST00000409756,;XIRP2,missense_variant,p.Gln301His,ENST00000409043,;XIRP2,missense_variant,p.Gln334His,ENST00000409728,;XIRP2,missense_variant,p.Gln301His,ENST00000295237,;	992	591	358	SUCCESS
ORMDL1	94101	.	GRCh37	2	190636618	190636618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	49	89	0	ENST00000325795.3:c.337G>A	p.Ala113Thr	p.A113T	ENST00000325795		113	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2301.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCCAGAA	NONE	.	.	Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF018147,Pfam_domain:PF04061,hmmpanther:PTHR12665:SF12,hmmpanther:PTHR12665	.	.	ENSP00000326869	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325795	Transcript	.	.	ENSG00000128699	16036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(1)	.	ORML1_HUMAN	ORMDL1	HGNC	B9A069_HUMAN	.	UPI0000073E90	SNV	ORMDL1,missense_variant,p.Ala113Thr,ENST00000392350,;ORMDL1,missense_variant,p.Ala113Thr,ENST00000392349,;ORMDL1,missense_variant,p.Ala113Thr,ENST00000325795,;ORMDL1,downstream_gene_variant,,ENST00000458355,;ORMDL1,downstream_gene_variant,,ENST00000442547,;ORMDL1,downstream_gene_variant,,ENST00000409519,;ORMDL1,non_coding_transcript_exon_variant,,ENST00000496543,;	1124	89	104	SUCCESS
SF3B1	23451	.	GRCh37	2	198266800	198266800	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	135	260	0	ENST00000335508.6:c.2132C>T	p.Ala711Val	p.A711V	ENST00000335508	NM_012433.2	711	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33356.1	2132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	15/25	.	.	.	.	.	.	.	.	COSM1651716	15/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.973)	.	deleterious(0)	1	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Ala711Val,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,non_coding_transcript_exon_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	2224	260	303	SUCCESS
HSPD1	3329	.	GRCh37	2	198358073	198358073	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	44	172	0	ENST00000345042.2:c.844G>C	p.Ala282Pro	p.A282P	ENST00000345042	NM_199440.1	282	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS33357.1	844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGCTTCTC	NONE	.	.	HAMAP:MF_00600,hmmpanther:PTHR11353,Pfam_domain:PF00118,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02348,Superfamily_domains:SSF52029	.	.	ENSP00000373620	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000388968	Transcript	.	.	ENSG00000144381	5261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	CH60_HUMAN	HSPD1	HGNC	Q53SE2_HUMAN,Q53QD5_HUMAN,E7EXB4_HUMAN,C9JL19_HUMAN,C9JCQ4_HUMAN,C9J0S9_HUMAN	.	UPI0000042366	SNV	HSPD1,missense_variant,p.Ala282Pro,ENST00000345042,;HSPD1,missense_variant,p.Ala282Pro,ENST00000388968,;HSPD1,downstream_gene_variant,,ENST00000544407,;HSPD1,downstream_gene_variant,,ENST00000428204,;HSPD1,downstream_gene_variant,,ENST00000439605,;HSPD1,downstream_gene_variant,,ENST00000426480,;HSPD1,downstream_gene_variant,,ENST00000430176,;HSPD1,downstream_gene_variant,,ENST00000452200,;HSPD1,non_coding_transcript_exon_variant,,ENST00000482167,;HSPD1,upstream_gene_variant,,ENST00000491249,;HSPD1,downstream_gene_variant,,ENST00000476746,;HSPD1,downstream_gene_variant,,ENST00000440114,;HSPD1,downstream_gene_variant,,ENST00000461097,;HSPD1,downstream_gene_variant,,ENST00000486181,;	1112	172	155	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218924401	218924401	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	59	102	0	ENST00000439871.1:n.1980G>A		p.*660*	ENST00000439871				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAACATTGT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	1980	102	127	SUCCESS
TTLL4	9654	.	GRCh37	2	219613650	219613650	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs201011157	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	67	118	0	ENST00000258398.4:c.2593A>G	p.Ile865Val	p.I865V	ENST00000258398		865	Atc/Gtc	0	G:0	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS2422.1	2593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTATCATC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF56059,Pfam_domain:PF03133,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF9,PROSITE_profiles:PS51221	G:0	G:0.0001	ENSP00000375951	G:0.001	13/20	.	.	.	.	.	.	.	.	rs201011157	13/20	PASS	ENST00000392102	Transcript	.	G:0.0002	ENSG00000135912	28976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	G:0	deleterious(0.02)	.	TTLL4_HUMAN	TTLL4	HGNC	C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN	.	UPI000013EDFF	SNV	TTLL4,missense_variant,p.Ile865Val,ENST00000258398,;TTLL4,missense_variant,p.Ile10Val,ENST00000436668,;TTLL4,missense_variant,p.Ile865Val,ENST00000392102,;TTLL4,missense_variant,p.Ile700Val,ENST00000457313,;TTLL4,missense_variant,p.Ile801Val,ENST00000442769,;TTLL4,missense_variant,p.Ile156Val,ENST00000448224,;TTLL4,upstream_gene_variant,,ENST00000417855,;TTLL4,non_coding_transcript_exon_variant,,ENST00000465558,;TTLL4,non_coding_transcript_exon_variant,,ENST00000467841,;TTLL4,non_coding_transcript_exon_variant,,ENST00000480472,;TTLL4,upstream_gene_variant,,ENST00000472527,;TTLL4,downstream_gene_variant,,ENST00000491899,;TTLL4,downstream_gene_variant,,ENST00000475950,;TTLL4,downstream_gene_variant,,ENST00000494428,;TTLL4,downstream_gene_variant,,ENST00000434241,;TTLL4,downstream_gene_variant,,ENST00000480929,;TTLL4,downstream_gene_variant,,ENST00000417196,;TTLL4,downstream_gene_variant,,ENST00000461181,;	2933	118	137	SUCCESS
SP100	6672	.	GRCh37	2	231280938	231280938	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	59	0	ENST00000264052.5:c.-74C>T		p.*25*	ENST00000264052	NM_003113.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42832.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACACTGCAC	NONE	.	43	.	.	.	ENSP00000343023	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340126	Transcript	.	.	ENSG00000067066	11206	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP100_HUMAN	SP100	HGNC	Q4ZG64_HUMAN	.	UPI000013DD6A	SNV	SP100,5_prime_UTR_variant,,ENST00000432979,;SP100,5_prime_UTR_variant,,ENST00000264052,;SP100,5_prime_UTR_variant,,ENST00000427101,;SP100,upstream_gene_variant,,ENST00000409341,;SP100,upstream_gene_variant,,ENST00000409824,;SP100,upstream_gene_variant,,ENST00000409897,;SP100,upstream_gene_variant,,ENST00000340126,;SP100,upstream_gene_variant,,ENST00000409112,;SP100,upstream_gene_variant,,ENST00000341950,;	.	59	36	SUCCESS
DRC1	92749	.	GRCh37	2	26667692	26667692	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	91	0	ENST00000288710.2:c.1272C>T	p.His424=	p.H424=	ENST00000288710	NM_145038.2	424	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS1723.1	1272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCACACCCA	NONE	.	.	hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1	.	.	ENSP00000288710	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000288710	Transcript	.	.	ENSG00000157856	24245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRC1_HUMAN	DRC1	HGNC	.	.	UPI000013DF36	SNV	DRC1,synonymous_variant,p.%3D,ENST00000288710,;DRC1,upstream_gene_variant,,ENST00000439066,;DRC1,downstream_gene_variant,,ENST00000442810,;DRC1,non_coding_transcript_exon_variant,,ENST00000483675,;DRC1,3_prime_UTR_variant,,ENST00000421869,;	1346	91	85	SUCCESS
LHCGR	3973	.	GRCh37	2	48915497	48915497	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	85	0	ENST00000294954.7:c.1439T>C	p.Leu480Ser	p.L480S	ENST00000294954	NM_000233.3	480	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS1842.1	1439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTAATCGC	BUFFER|p.R479Q|c.1436G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000294954	.	11/11	.	.	.	.	.	.	.	.	COSM255472	11/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.733)	.	deleterious(0)	1	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,missense_variant,p.Leu453Ser,ENST00000405626,;LHCGR,missense_variant,p.Leu418Ser,ENST00000344775,;LHCGR,missense_variant,p.Leu480Ser,ENST00000294954,;LHCGR,3_prime_UTR_variant,,ENST00000403273,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,intron_variant,,ENST00000401907,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;	1461	85	82	SUCCESS
KIDINS220	57498	.	GRCh37	2	8871742	8871742	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	8	163	0	ENST00000256707.3:c.4424C>G	p.Pro1475Arg	p.P1475R	ENST00000256707	NM_020738.2	1475	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS42650.1	4424	MUTECT|MUSE	.	TGATAGGATCC	NONE	.	.	hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5	.	.	ENSP00000256707	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000256707	Transcript	.	.	ENSG00000134313	29508	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious_low_confidence(0)	.	KDIS_HUMAN	KIDINS220	HGNC	F8WAY8_HUMAN	.	UPI0000208E08	SNV	KIDINS220,missense_variant,p.Pro1456Arg,ENST00000427284,;KIDINS220,missense_variant,p.Pro1376Arg,ENST00000418530,;KIDINS220,missense_variant,p.Pro1475Arg,ENST00000256707,;KIDINS220,missense_variant,p.Pro1456Arg,ENST00000473731,;KIDINS220,intron_variant,,ENST00000496383,;KIDINS220,downstream_gene_variant,,ENST00000489024,;KIDINS220,upstream_gene_variant,,ENST00000436566,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;KIDINS220,downstream_gene_variant,,ENST00000471685,;	4606	163	173	SUCCESS
TOMM70A	0	.	GRCh37	3	100086936	100086936	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756746228	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	92	0	ENST00000284320.5:c.1625A>G	p.Asn542Ser	p.N542S	ENST00000284320	NM_014820.4	542	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS33807.1	1625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATTGTCA	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,hmmpanther:PTHR22904:SF178,hmmpanther:PTHR22904,PROSITE_profiles:PS50293	.	.	ENSP00000284320	.	11/12	.	.	.	.	.	.	.	.	rs756746228	11/12	PASS	ENST00000284320	Transcript	.	.	ENSG00000154174	11985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.28)	.	TOM70_HUMAN	TOMM70A	HGNC	B4DZ87_HUMAN,B3KQK5_HUMAN,B3KQK0_HUMAN	.	UPI0000000C55	SNV	TOMM70A,missense_variant,p.Asn542Ser,ENST00000284320,;TOMM70A,downstream_gene_variant,,ENST00000483945,;	2074	92	85	SUCCESS
FANCD2	2177	.	GRCh37	3	10074603	10074603	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	14	204	0	ENST00000383807.1:c.152T>G	p.Leu51Arg	p.L51R	ENST00000383807	NM_001018115.1	51	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS2595.1	152	MUTECT|MUSE	.	AAAGCTTCTTA	NONE	.	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	.	.	ENSP00000287647	.	3/43	.	.	.	.	.	.	.	.	.	3/43	PASS	ENST00000287647	Transcript	.	.	ENSG00000144554	3585	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,missense_variant,p.Leu51Arg,ENST00000383807,;FANCD2,missense_variant,p.Leu51Arg,ENST00000287647,;FANCD2,missense_variant,p.Leu51Arg,ENST00000431693,;FANCD2,missense_variant,p.Leu51Arg,ENST00000419585,;FANCD2,missense_variant,p.Leu51Arg,ENST00000383806,;RNU6-670P,upstream_gene_variant,,ENST00000364312,;FANCD2,upstream_gene_variant,,ENST00000438741,;FANCD2,3_prime_UTR_variant,,ENST00000435522,;	245	204	237	SUCCESS
CD80	941	.	GRCh37	3	119263535	119263535	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	7	113	0	ENST00000264246.3:c.280G>A	p.Asp94Asn	p.D94N	ENST00000264246	NM_005191.3	94	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2989.1	280	MUTECT|MUSE	.	GATATCAAAGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR25462:SF214,hmmpanther:PTHR25462,PROSITE_profiles:PS50835	.	.	ENSP00000264246	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000264246	Transcript	.	.	ENSG00000121594	1700	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.844)	.	tolerated(0.05)	.	CD80_HUMAN	CD80	HGNC	Q6LCB7_HUMAN,A0N0P2_HUMAN	.	UPI000000D9F5	SNV	CD80,missense_variant,p.Asp94Asn,ENST00000383668,;CD80,missense_variant,p.Asp94Asn,ENST00000264246,;CD80,missense_variant,p.Asp94Asn,ENST00000383669,;CD80,missense_variant,p.Asp94Asn,ENST00000478182,;CD80,non_coding_transcript_exon_variant,,ENST00000463729,;	643	113	137	SUCCESS
SMC4	10051	.	GRCh37	3	160148414	160148414	+	synonymous_variant	Silent	SNP	C	C	G	rs755769854	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	100	244	0	ENST00000344722.5:c.2823C>G	p.Val941=	p.V941=	ENST00000344722	NM_005496.3	941	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS3189.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCTTGCG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF148,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,Superfamily_domains:SSF57997	.	.	ENSP00000349961	.	19/24	.	.	.	.	.	.	.	.	rs755769854	19/24	PASS	ENST00000357388	Transcript	.	.	ENSG00000113810	14013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC4_HUMAN	SMC4	HGNC	C9JWF0_HUMAN,C9JVD8_HUMAN,C9JR83_HUMAN,C9JJ64_HUMAN,C9J9E4_HUMAN,C9J578_HUMAN,C9IYK2_HUMAN	.	UPI000006DA0A	SNV	SMC4,synonymous_variant,p.%3D,ENST00000344722,;SMC4,synonymous_variant,p.%3D,ENST00000469762,;SMC4,synonymous_variant,p.%3D,ENST00000462787,;SMC4,synonymous_variant,p.%3D,ENST00000357388,;SMC4,synonymous_variant,p.%3D,ENST00000360111,;TRIM59,downstream_gene_variant,,ENST00000309784,;TRIM59,downstream_gene_variant,,ENST00000543469,;SMC4,non_coding_transcript_exon_variant,,ENST00000488017,;SMC4,non_coding_transcript_exon_variant,,ENST00000462668,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,upstream_gene_variant,,ENST00000486711,;	3274	244	263	SUCCESS
STAB1	23166	.	GRCh37	3	52553292	52553292	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1559715152	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	78	0	ENST00000321725.6:c.5047C>T	p.Leu1683Phe	p.L1683F	ENST00000321725	NM_015136.2	1683	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33768.1	5047	MUTECT|MUSE|VARSCANS	.	TATACCTCAAT	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50213	.	.	ENSP00000312946	.	49/69	.	.	.	.	.	.	.	.	.	49/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.853)	.	deleterious(0.01)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Leu1683Phe,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000469989,;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;	5123	78	88	SUCCESS
SPOCK3	50859	.	GRCh37	4	167658664	167658664	+	synonymous_variant	Silent	SNP	A	A	G	rs1370164087	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	56	0	ENST00000357154.3:c.1095T>C	p.Tyr365=	p.Y365=	ENST00000357154	NM_016950.2	365	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS54817.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCATATCT	BUFFER|p.G363E|c.1088G>A|3	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4,PROSITE_patterns:PS00484,Gene3D:4.10.800.10,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610	.	.	ENSP00000349677	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,synonymous_variant,p.%3D,ENST00000357154,;SPOCK3,synonymous_variant,p.%3D,ENST00000511531,;SPOCK3,synonymous_variant,p.%3D,ENST00000357545,;SPOCK3,synonymous_variant,p.%3D,ENST00000506886,;SPOCK3,synonymous_variant,p.%3D,ENST00000511269,;SPOCK3,synonymous_variant,p.%3D,ENST00000421836,;SPOCK3,synonymous_variant,p.%3D,ENST00000510741,;SPOCK3,synonymous_variant,p.%3D,ENST00000535728,;SPOCK3,synonymous_variant,p.%3D,ENST00000541637,;SPOCK3,synonymous_variant,p.%3D,ENST00000541354,;SPOCK3,synonymous_variant,p.%3D,ENST00000512681,;SPOCK3,synonymous_variant,p.%3D,ENST00000534949,;SPOCK3,synonymous_variant,p.%3D,ENST00000502330,;SPOCK3,synonymous_variant,p.%3D,ENST00000504953,;SPOCK3,non_coding_transcript_exon_variant,,ENST00000507137,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;	1233	56	32	SUCCESS
TMEM128	85013	.	GRCh37	4	4248013	4248014	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	126	44	167	0	ENST00000382753.4:c.154dup	p.Ser52PhefsTer16	p.S52Ffs*16	ENST00000382753		52	tct/tTct	0	.	.	.	.	.	A	S/FX	protein_coding	YES	CCDS3373.1	82-83	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCAGAATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31134:SF1,hmmpanther:PTHR31134	.	.	ENSP00000254742	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000254742	Transcript	.	.	ENSG00000132406	28201	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM128_HUMAN	TMEM128	HGNC	.	.	UPI0000073696	insertion	TMEM128,frameshift_variant,p.Ser52PhefsTer16,ENST00000540397,;TMEM128,frameshift_variant,p.Ser52PhefsTer16,ENST00000382753,;TMEM128,frameshift_variant,p.Ser28PhefsTer16,ENST00000254742,;TMEM128,frameshift_variant,p.Ser52PhefsTer16,ENST00000538516,;	669-670	167	170	SUCCESS
CSN1S1	1446	.	GRCh37	4	70804905	70804905	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	30	170	0	ENST00000246891.4:c.255C>A	p.Ser85=	p.S85=	ENST00000246891	NM_001890.1	85	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47067.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCCAGCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10240:SF0,hmmpanther:PTHR10240	.	.	ENSP00000246891	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000246891	Transcript	.	.	ENSG00000126545	2445	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASA1_HUMAN	CSN1S1	HGNC	.	.	UPI0000126FCB	SNV	CSN1S1,synonymous_variant,p.%3D,ENST00000505782,;CSN1S1,synonymous_variant,p.%3D,ENST00000510936,;CSN1S1,synonymous_variant,p.%3D,ENST00000507763,;CSN1S1,synonymous_variant,p.%3D,ENST00000246891,;CSN1S1,synonymous_variant,p.%3D,ENST00000444405,;CSN1S1,synonymous_variant,p.%3D,ENST00000507772,;	304	170	133	SUCCESS
PPEF2	5470	.	GRCh37	4	76805789	76805789	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1292742576	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	32	84	0	ENST00000286719.7:c.704A>G	p.His235Arg	p.H235R	ENST00000286719	NM_006239.2	235	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS34013.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATGGAAC	NONE	.	.	Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Pfam_domain:PF00149,Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214	.	.	ENSP00000286719	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	deleterious(0.04)	.	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,missense_variant,p.His235Arg,ENST00000286719,;PPEF2,downstream_gene_variant,,ENST00000503352,;PPEF2,3_prime_UTR_variant,,ENST00000511880,;PPEF2,non_coding_transcript_exon_variant,,ENST00000513324,;PPEF2,upstream_gene_variant,,ENST00000515552,;	1061	84	59	SUCCESS
PAM	5066	.	GRCh37	5	102343198	102343198	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	66	0	ENST00000438793.3:c.2052T>A	p.Thr684=	p.T684=	ENST00000438793	NM_001177306.1	684	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43348.1	2052	MUTECT|MUSE	.	TTCACTGTTCC	NONE	.	.	PROSITE_profiles:PS51125,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13,Pfam_domain:PF01436,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000306100	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000304400	Transcript	.	.	ENSG00000145730	8596	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMD_HUMAN	PAM	HGNC	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN	.	UPI000015618B	SNV	PAM,synonymous_variant,p.%3D,ENST00000379799,;PAM,synonymous_variant,p.%3D,ENST00000348126,;PAM,synonymous_variant,p.%3D,ENST00000304400,;PAM,synonymous_variant,p.%3D,ENST00000346918,;PAM,synonymous_variant,p.%3D,ENST00000274392,;PAM,synonymous_variant,p.%3D,ENST00000438793,;PAM,synonymous_variant,p.%3D,ENST00000455264,;PAM,synonymous_variant,p.%3D,ENST00000379787,;PAM,upstream_gene_variant,,ENST00000504691,;PAM,non_coding_transcript_exon_variant,,ENST00000510006,;PAM,upstream_gene_variant,,ENST00000504456,;PAM,upstream_gene_variant,,ENST00000515456,;PAM,3_prime_UTR_variant,,ENST00000345721,;PAM,downstream_gene_variant,,ENST00000511429,;	2238	66	96	SUCCESS
LEAP2	116842	.	GRCh37	5	132209378	132209378	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs757538083	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	46	129	0	ENST00000296877.2:c.-9C>T		p.*3*	ENST00000296877	NM_052971.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4163.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCCTGTC	NONE	.	.	.	.	.	ENSP00000296877	.	1/3	.	.	.	.	.	.	.	.	rs757538083	1/3	PASS	ENST00000296877	Transcript	.	.	ENSG00000164406	29571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEAP2_HUMAN	LEAP2	HGNC	.	.	UPI000012E39C	SNV	LEAP2,5_prime_UTR_variant,,ENST00000296877,;AFF4,downstream_gene_variant,,ENST00000265343,;LEAP2,non_coding_transcript_exon_variant,,ENST00000485457,;LEAP2,non_coding_transcript_exon_variant,,ENST00000483190,;	1365	129	168	SUCCESS
MYOT	9499	.	GRCh37	5	137221803	137221803	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	320	226	416	0	ENST00000239926.4:c.1091A>G	p.Asp364Gly	p.D364G	ENST00000239926	NM_006790.2	364	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS4194.1	1091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGATTCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000239926	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000239926	Transcript	1	.	ENSG00000120729	12399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	tolerated(0.11)	.	MYOTI_HUMAN	MYOT	HGNC	B4DT68_HUMAN	.	UPI000013CA96	SNV	MYOT,missense_variant,p.Asp180Gly,ENST00000421631,;MYOT,missense_variant,p.Asp249Gly,ENST00000515645,;MYOT,missense_variant,p.Asp364Gly,ENST00000239926,;PKD2L2,upstream_gene_variant,,ENST00000508638,;PKD2L2,upstream_gene_variant,,ENST00000508883,;PKD2L2,upstream_gene_variant,,ENST00000350250,;PKD2L2,upstream_gene_variant,,ENST00000502810,;PKD2L2,upstream_gene_variant,,ENST00000290431,;PKD2L2,upstream_gene_variant,,ENST00000503015,;PKD2L2,upstream_gene_variant,,ENST00000511176,;RP11-381K20.2,intron_variant,,ENST00000508281,;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,downstream_gene_variant,,ENST00000509812,;MYOT,non_coding_transcript_exon_variant,,ENST00000511254,;MYOT,downstream_gene_variant,,ENST00000503748,;MYOT,upstream_gene_variant,,ENST00000508938,;PKD2L2,upstream_gene_variant,,ENST00000414094,;	1465	416	546	SUCCESS
PCDHA8	56140	.	GRCh37	5	140221993	140221993	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	61	236	0	ENST00000531613.1:c.1087G>C	p.Ala363Pro	p.A363P	ENST00000531613	NM_018911.2	363	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS54919.1	1087	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGCTCAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	deleterious_low_confidence(0)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Ala363Pro,ENST00000531613,;PCDHA8,missense_variant,p.Ala363Pro,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1087	236	263	SUCCESS
GNPDA1	10007	.	GRCh37	5	141385881	141385881	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	39	52	0	ENST00000311337.6:c.237A>G	p.Arg79=	p.R79=	ENST00000311337	NM_005471.4	79	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS4272.1	237	RADIA|MUTECT|MUSE	.	TGGTCTCGAGG	NONE	.	.	HAMAP:MF_01241,hmmpanther:PTHR11280:SF3,hmmpanther:PTHR11280,Gene3D:3.40.50.1360,TIGRFAM_domain:TIGR00502,Pfam_domain:PF01182,Superfamily_domains:SSF100950	.	.	ENSP00000423674	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000508177	Transcript	.	.	ENSG00000113552	4417	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GNPI1_HUMAN	GNPDA1	HGNC	D6RFK5_HUMAN,D6RB13_HUMAN,D6R917_HUMAN	.	UPI000004D014	SNV	GNPDA1,synonymous_variant,p.%3D,ENST00000503794,;GNPDA1,synonymous_variant,p.%3D,ENST00000508177,;GNPDA1,synonymous_variant,p.%3D,ENST00000500692,;GNPDA1,synonymous_variant,p.%3D,ENST00000503229,;GNPDA1,synonymous_variant,p.%3D,ENST00000504139,;GNPDA1,synonymous_variant,p.%3D,ENST00000311337,;GNPDA1,synonymous_variant,p.%3D,ENST00000510194,;GNPDA1,synonymous_variant,p.%3D,ENST00000505689,;GNPDA1,synonymous_variant,p.%3D,ENST00000458112,;GNPDA1,synonymous_variant,p.%3D,ENST00000513454,;GNPDA1,intron_variant,,ENST00000542860,;GNPDA1,non_coding_transcript_exon_variant,,ENST00000507107,;GNPDA1,upstream_gene_variant,,ENST00000515747,;GNPDA1,upstream_gene_variant,,ENST00000507559,;	996	52	80	SUCCESS
PDE6A	5145	.	GRCh37	5	149245755	149245755	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	31	102	1	ENST00000255266.5:c.2336T>C	p.Phe779Ser	p.F779S	ENST00000255266	NM_000440.2	779	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS4299.1	2336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAAAGTCA	NONE	.	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,Superfamily_domains:SSF109604	.	.	ENSP00000255266	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.12)	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,missense_variant,p.Phe779Ser,ENST00000255266,;PDE6A,non_coding_transcript_exon_variant,,ENST00000512670,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	2456	103	129	SUCCESS
GABRA6	2559	.	GRCh37	5	161112958	161112958	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	76	0	ENST00000274545.5:c.-38C>G		p.*13*	ENST00000274545				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4356.1	.	MUTECT|MUSE	.	ACGACCCTAGG	NONE	.	.	.	.	.	ENSP00000274545	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,5_prime_UTR_variant,,ENST00000523217,;GABRA6,5_prime_UTR_variant,,ENST00000274545,;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000517823,;GABRA6,upstream_gene_variant,,ENST00000523691,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000518888,;GABRA6,intron_variant,,ENST00000522269,;GABRA6,upstream_gene_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	396	76	101	SUCCESS
PARP8	79668	.	GRCh37	5	50090751	50090751	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs561586600	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	9	137	0	ENST00000281631.5:c.928G>A	p.Gly310Arg	p.G310R	ENST00000281631	NM_024615.3	310	Gga/Aga	0	.	A:0	.	A:0	.	A	G/R	protein_coding	YES	CCDS3954.1	928	MUTECT|MUSE	.	AGGACGGAATC	NONE	by1000G	.	hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3	A:0	.	ENSP00000281631	A:0	12/26	.	.	.	.	.	.	.	.	rs561586600	12/26	PASS	ENST00000281631	Transcript	.	A:0.0002	ENSG00000151883	26124	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	A:0.001	tolerated_low_confidence(0.44)	.	PARP8_HUMAN	PARP8	HGNC	D6RGZ9_HUMAN	.	UPI0000073D19	SNV	PARP8,missense_variant,p.Gly310Arg,ENST00000503750,;PARP8,missense_variant,p.Gly310Arg,ENST00000514067,;PARP8,missense_variant,p.Gly63Arg,ENST00000514342,;PARP8,missense_variant,p.Gly310Arg,ENST00000505697,;PARP8,missense_variant,p.Gly310Arg,ENST00000281631,;PARP8,missense_variant,p.Gly289Arg,ENST00000505554,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;	1086	138	166	SUCCESS
MIER3	166968	.	GRCh37	5	56226567	56226567	+	synonymous_variant	Silent	SNP	T	T	C	rs1194620159	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	51	0	ENST00000381199.3:c.753A>G	p.Leu251=	p.L251=	ENST00000381199		251	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3973.2	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATATAATGC	NONE	.	.	hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF22,PROSITE_profiles:PS51156	.	.	ENSP00000370611	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000381213	Transcript	.	.	ENSG00000155545	26678	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIER3_HUMAN	MIER3	HGNC	A8MQD4_HUMAN	.	UPI000020C7A0	SNV	MIER3,synonymous_variant,p.%3D,ENST00000381199,;MIER3,synonymous_variant,p.%3D,ENST00000381226,;MIER3,synonymous_variant,p.%3D,ENST00000409421,;MIER3,synonymous_variant,p.%3D,ENST00000381213,;MIER3,downstream_gene_variant,,ENST00000336942,;CTD-2310F14.1,downstream_gene_variant,,ENST00000606813,;MIER3,3_prime_UTR_variant,,ENST00000452157,;	776	51	62	SUCCESS
MAST4	375449	.	GRCh37	5	66391445	66391445	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	81	0	ENST00000403625.2:c.854C>G	p.Ser285Trp	p.S285W	ENST00000403625	NM_001164664.1	285	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS54861.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCGTTGG	NONE	.	.	Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139	.	.	ENSP00000385727	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Ser96Trp,ENST00000403666,;MAST4,missense_variant,p.Ser288Trp,ENST00000404260,;MAST4,missense_variant,p.Ser91Trp,ENST00000261569,;MAST4,missense_variant,p.Ser96Trp,ENST00000490016,;MAST4,missense_variant,p.Ser106Trp,ENST00000405643,;MAST4,missense_variant,p.Ser91Trp,ENST00000436277,;MAST4,missense_variant,p.Ser285Trp,ENST00000403625,;MAST4,missense_variant,p.Ser91Trp,ENST00000447738,;	1149	81	86	SUCCESS
F2RL1	2150	.	GRCh37	5	76129080	76129080	+	synonymous_variant	Silent	SNP	C	C	T	rs535468564	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	107	0	ENST00000296677.4:c.648C>T	p.Ile216=	p.I216=	ENST00000296677	NM_005242.4	216	atC/atT	0	.	A:0	.	A:0	.	T	I	protein_coding	YES	CCDS4033.1	648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCTTCAT	NONE	by1000G	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF21,PROSITE_profiles:PS50262	A:0.001	.	ENSP00000296677	A:0	2/2	.	.	.	.	.	.	.	.	rs535468564	2/2	PASS	ENST00000296677	Transcript	.	A:0.0002	ENSG00000164251	3538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PAR2_HUMAN	F2RL1	HGNC	D6RJH3_HUMAN	.	UPI000013E36E	SNV	F2RL1,synonymous_variant,p.%3D,ENST00000296677,;F2RL1,downstream_gene_variant,,ENST00000514165,;RN7SL208P,downstream_gene_variant,,ENST00000577964,;	854	107	99	SUCCESS
DMGDH	29958	.	GRCh37	5	78322281	78322281	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1189207901	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	9	221	0	ENST00000255189.3:c.2156G>A	p.Arg719His	p.R719H	ENST00000255189	NM_013391.3	719	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS4044.1	2156	MUTECT|MUSE	.	CCAGGCGTAAG	NONE	.	.	Gene3D:3.30.1360.120,Pfam_domain:PF01571,Superfamily_domains:SSF103025	.	.	ENSP00000255189	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000255189	Transcript	1	.	ENSG00000132837	24475	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	M2GD_HUMAN	DMGDH	HGNC	.	.	UPI000013CE96	SNV	DMGDH,missense_variant,p.Arg558His,ENST00000523732,;DMGDH,missense_variant,p.Arg518His,ENST00000380311,;DMGDH,missense_variant,p.Arg339His,ENST00000540686,;DMGDH,missense_variant,p.Arg719His,ENST00000255189,;DMGDH,non_coding_transcript_exon_variant,,ENST00000523201,;DMGDH,3_prime_UTR_variant,,ENST00000518477,;DMGDH,3_prime_UTR_variant,,ENST00000517853,;	2185	221	249	SUCCESS
RASGRF2	5924	.	GRCh37	5	80513281	80513281	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	97	0	ENST00000265080.4:c.3544del	p.Met1182Ter	p.M1182*	ENST00000265080	NM_006909.2	1181	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS4052.1	3541	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|MUSE*|MUTECT*|VARSCANS*	.	TTCTCCAAAATG	NONE	.	.	Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,Pfam_domain:PF00617,PROSITE_patterns:PS00720,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187,PROSITE_profiles:PS50009	.	.	ENSP00000265080	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000265080	Transcript	.	.	ENSG00000113319	9876	3	.	HIGH	.	PRIMARY	.	.	.	.	7	.	.	.	.	.	.	.	RGRF2_HUMAN	RASGRF2	HGNC	Q68DX5_HUMAN	.	UPI0000047ABF	deletion	RASGRF2,frameshift_variant,p.Met1182Ter,ENST00000265080,;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2-AS1,intron_variant,,ENST00000503483,;RASGRF2,3_prime_UTR_variant,,ENST00000503795,;	3608	97	101	SUCCESS
ARRDC3	57561	.	GRCh37	5	90670042	90670042	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	72	254	0	ENST00000265138.3:c.922G>A	p.Val308Ile	p.V308I	ENST00000265138	NM_020801.2	308	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS34202.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACAAGTG	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM01017,Pfam_domain:PF02752,hmmpanther:PTHR11188:SF49,hmmpanther:PTHR11188	.	.	ENSP00000265138	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000265138	Transcript	.	.	ENSG00000113369	29263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	ARRD3_HUMAN	ARRDC3	HGNC	.	.	UPI000006F2E2	SNV	ARRDC3,missense_variant,p.Val308Ile,ENST00000265138,;ARRDC3,downstream_gene_variant,,ENST00000503192,;ARRDC3,downstream_gene_variant,,ENST00000508948,;ARRDC3,downstream_gene_variant,,ENST00000514284,;ARRDC3,non_coding_transcript_exon_variant,,ENST00000505631,;ARRDC3,upstream_gene_variant,,ENST00000511391,;ARRDC3,downstream_gene_variant,,ENST00000507075,;	1189	254	243	SUCCESS
RFX6	222546	.	GRCh37	6	117241485	117241485	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	31	57	1	ENST00000332958.2:c.1195G>A	p.Ala399Thr	p.A399T	ENST00000332958	NM_173560.3	399	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5113.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGCTCTC	NONE	.	.	hmmpanther:PTHR12619:SF16,hmmpanther:PTHR12619	.	.	ENSP00000332208	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000332958	Transcript	.	.	ENSG00000185002	21478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.04)	.	RFX6_HUMAN	RFX6	HGNC	.	.	UPI00001609BE	SNV	RFX6,missense_variant,p.Ala399Thr,ENST00000332958,;RFX6,downstream_gene_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	1211	58	58	SUCCESS
HIST1H2AG	0	.	GRCh37	6	27100855	27100855	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	71	83	0	ENST00000359193.2:c.5C>G	p.Ser2Cys	p.S2C	ENST00000359193	NM_021064.4	2	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS4619.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTCTGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430	.	.	ENSP00000352119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359193	Transcript	.	.	ENSG00000196787	4737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious_low_confidence(0.02)	.	H2A1_HUMAN	HIST1H2AG	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AG,missense_variant,p.Ser2Cys,ENST00000359193,;HIST1H2BJ,upstream_gene_variant,,ENST00000541790,;HIST1H2BJ,upstream_gene_variant,,ENST00000339812,;HIST1H2BJ,upstream_gene_variant,,ENST00000607124,;HIST1H2BJ,upstream_gene_variant,,ENST00000606923,;	24	83	108	SUCCESS
TINAG	27283	.	GRCh37	6	54219431	54219431	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	181	284	0	ENST00000259782.4:c.1247C>T	p.Thr416Ile	p.T416I	ENST00000259782	NM_014464.3	416	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS4955.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACTGGGT	NONE	.	.	Superfamily_domains:SSF54001,SMART_domains:SM00645,Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411:SF274,hmmpanther:PTHR12411	.	.	ENSP00000259782	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000259782	Transcript	.	.	ENSG00000137251	14599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.69)	.	TINAG_HUMAN	TINAG	HGNC	B1AQ11_HUMAN	.	UPI000013D078	SNV	TINAG,missense_variant,p.Thr416Ile,ENST00000259782,;	1343	284	357	SUCCESS
DSP	1832	.	GRCh37	6	7583810	7583810	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	8	92	0	ENST00000379802.3:c.6315A>G	p.Val2105=	p.V2105=	ENST00000379802	NM_004415.2	2105	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4501.1	6315	MUTECT|MUSE	.	ACAGTATCTGT	NONE	.	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,synonymous_variant,p.%3D,ENST00000379802,;DSP,synonymous_variant,p.%3D,ENST00000418664,;	6656	92	133	SUCCESS
SNAP91	9892	.	GRCh37	6	84269885	84269885	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	88	202	0	ENST00000369694.2:c.2569G>A	p.Val857Ile	p.V857I	ENST00000369694	NM_001242792.1	857	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS47455.1	2569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACCGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.16)	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,missense_variant,p.Val857Ile,ENST00000439399,;SNAP91,missense_variant,p.Val852Ile,ENST00000195649,;SNAP91,missense_variant,p.Val198Ile,ENST00000523448,;SNAP91,missense_variant,p.Val550Ile,ENST00000437520,;SNAP91,missense_variant,p.Val852Ile,ENST00000521485,;SNAP91,missense_variant,p.Val827Ile,ENST00000520302,;SNAP91,missense_variant,p.Val857Ile,ENST00000428679,;SNAP91,missense_variant,p.Val550Ile,ENST00000520213,;SNAP91,missense_variant,p.Val857Ile,ENST00000369694,;SNAP91,missense_variant,p.Val857Ile,ENST00000521743,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	2886	202	159	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146536812	146536812	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	49	71	0	ENST00000361727.3:c.218G>A	p.Gly73Glu	p.G73E	ENST00000361727	NM_014141.5	73	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS5889.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGATGGT	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000354778	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,missense_variant,p.Gly73Glu,ENST00000361727,;	734	71	95	SUCCESS
PTPRN2	5799	.	GRCh37	7	158109583	158109583	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	64	0	ENST00000389418.4:c.205T>A	p.Phe69Ile	p.F69I	ENST00000389418	NM_002847.3	69	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS5947.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAAAGTCCA	NONE	.	.	.	.	.	ENSP00000374069	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000389418	Transcript	.	.	ENSG00000155093	9677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.61)	.	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,missense_variant,p.Phe52Ile,ENST00000389416,;PTPRN2,missense_variant,p.Phe92Ile,ENST00000404321,;PTPRN2,missense_variant,p.Phe69Ile,ENST00000389418,;PTPRN2,missense_variant,p.Phe69Ile,ENST00000389413,;PTPRN2,intron_variant,,ENST00000409483,;	215	64	96	SUCCESS
SDK1	221935	.	GRCh37	7	4153005	4153005	+	synonymous_variant	Silent	SNP	C	C	G	rs753658517	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	28	0	ENST00000404826.2:c.3519C>G	p.Pro1173=	p.P1173=	ENST00000404826	NM_152744.3	1173	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS34590.1	3519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCGACGT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	24/45	.	.	.	.	.	.	.	.	rs753658517	24/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,synonymous_variant,p.%3D,ENST00000404826,;SDK1,synonymous_variant,p.%3D,ENST00000389531,;	3658	28	51	SUCCESS
VSTM2A	222008	.	GRCh37	7	54610277	54610277	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	31	0	ENST00000407838.3:c.-147A>G		p.*49*	ENST00000407838	NM_182546.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5512.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACAGCC	NONE	.	.	.	.	.	ENSP00000384967	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,5_prime_UTR_variant,,ENST00000402026,;VSTM2A,5_prime_UTR_variant,,ENST00000302287,;VSTM2A,5_prime_UTR_variant,,ENST00000404951,;VSTM2A,5_prime_UTR_variant,,ENST00000407838,;VSTM2A,upstream_gene_variant,,ENST00000402613,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	260	31	47	SUCCESS
OCM	654231	.	GRCh37	7	5923521	5923521	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs1482427502	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	52	115	0	ENST00000242104.5:c.195G>T	p.Lys65Asn	p.K65N	ENST00000242104	NM_001097622.1	65	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS43548.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGTTTTT	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01697,Superfamily_domains:SSF47473,SMART_domains:SM00054,Pfam_domain:PF13499,Gene3D:1.10.238.10,hmmpanther:PTHR11653:SF8,hmmpanther:PTHR11653,PROSITE_profiles:PS50222	.	.	ENSP00000242104	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000242104	Transcript	.	.	ENSG00000122543	8105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0.02)	.	ONCO_HUMAN	OCM	HGNC	.	.	UPI00001D7522	SNV	OCM,missense_variant,p.Lys65Asn,ENST00000416608,;OCM,missense_variant,p.Lys65Asn,ENST00000242104,;	287	115	125	SUCCESS
C1GALT1	56913	.	GRCh37	7	7278123	7278123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	92	191	0	ENST00000223122.3:c.458A>G	p.Tyr153Cys	p.Y153C	ENST00000223122		153	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5355.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTATGTTC	NONE	.	.	hmmpanther:PTHR23033:SF13,hmmpanther:PTHR23033,Pfam_domain:PF02434	.	.	ENSP00000389176	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000436587	Transcript	.	.	ENSG00000106392	24337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	deleterious(0.01)	.	C1GLT_HUMAN	C1GALT1	HGNC	C9K0C8_HUMAN,C9JDX1_HUMAN	.	UPI000003DC31	SNV	C1GALT1,missense_variant,p.Tyr153Cys,ENST00000436587,;C1GALT1,missense_variant,p.Tyr153Cys,ENST00000402468,;C1GALT1,missense_variant,p.Tyr153Cys,ENST00000223122,;C1GALT1,downstream_gene_variant,,ENST00000429911,;C1GALT1,downstream_gene_variant,,ENST00000419721,;C1GALT1,downstream_gene_variant,,ENST00000476068,;	681	191	212	SUCCESS
SEMA3C	10512	.	GRCh37	7	80546114	80546114	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	64	0	ENST00000265361.3:c.-17C>T		p.*6*	ENST00000265361	NM_006379.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5596.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAGTTAAT	NONE	.	.	.	.	.	ENSP00000265361	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,missense_variant,p.Thr13Ile,ENST00000544525,;SEMA3C,5_prime_UTR_variant,,ENST00000419255,;SEMA3C,5_prime_UTR_variant,,ENST00000265361,;SEMA3C,5_prime_UTR_variant,,ENST00000536800,;SEMA3C,non_coding_transcript_exon_variant,,ENST00000470581,;SEMA3C,non_coding_transcript_exon_variant,,ENST00000487621,;SEMA3C,5_prime_UTR_variant,,ENST00000458729,;SEMA3C,5_prime_UTR_variant,,ENST00000411788,;SEMA3C,5_prime_UTR_variant,,ENST00000427167,;	546	64	62	SUCCESS
PPP1R9A	55607	.	GRCh37	7	94897973	94897973	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	46	107	0	ENST00000340694.4:c.2711A>G	p.Tyr904Cys	p.Y904C	ENST00000340694	NM_001166163.1	904	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS55127.1	2777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTATGATA	NONE	.	.	hmmpanther:PTHR16154:SF22,hmmpanther:PTHR16154	.	.	ENSP00000405514	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000433360	Transcript	.	.	ENSG00000158528	14946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	tolerated(0.16)	.	NEB1_HUMAN	PPP1R9A	HGNC	C9J730_HUMAN,C9J3G5_HUMAN	.	UPI000198CF27	SNV	PPP1R9A,missense_variant,p.Tyr926Cys,ENST00000433360,;PPP1R9A,missense_variant,p.Tyr904Cys,ENST00000424654,;PPP1R9A,missense_variant,p.Tyr904Cys,ENST00000433881,;PPP1R9A,missense_variant,p.Tyr904Cys,ENST00000456331,;PPP1R9A,missense_variant,p.Tyr904Cys,ENST00000289495,;PPP1R9A,missense_variant,p.Tyr904Cys,ENST00000340694,;	3059	107	124	SUCCESS
MCM7	4176	.	GRCh37	7	99695366	99695366	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	51	55	0	ENST00000303887.5:c.988G>C	p.Glu330Gln	p.E330Q	ENST00000303887	NM_001278595.1	330	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5683.1	988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCCTCTG	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,SMART_domains:SM00350	.	.	ENSP00000307288	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.35)	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,missense_variant,p.Glu154Gln,ENST00000354230,;MCM7,missense_variant,p.Glu330Gln,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;AP4M1,upstream_gene_variant,,ENST00000422582,;MCM7,downstream_gene_variant,,ENST00000425308,;AP4M1,upstream_gene_variant,,ENST00000359593,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000421755,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000439416,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,upstream_gene_variant,,ENST00000478501,;MCM7,splice_region_variant,,ENST00000477372,;MCM7,splice_region_variant,,ENST00000485286,;MCM7,splice_region_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000467516,;AP4M1,upstream_gene_variant,,ENST00000445208,;MCM7,downstream_gene_variant,,ENST00000465738,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,downstream_gene_variant,,ENST00000463722,;AP4M1,upstream_gene_variant,,ENST00000394061,;MCM7,downstream_gene_variant,,ENST00000465688,;	1634	55	90	SUCCESS
C7orf43	0	.	GRCh37	7	99755553	99755553	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	56	112	0	ENST00000316937.3:c.420G>T	p.Val140=	p.V140=	ENST00000316937	NM_018275.3	140	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5687.1	420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCACAGG	NONE	.	.	hmmpanther:PTHR16096,hmmpanther:PTHR16096:SF7	.	.	ENSP00000324741	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000316937	Transcript	.	.	ENSG00000146826	25604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG043_HUMAN	C7orf43	HGNC	F8WFE0_HUMAN,C9JMZ9_HUMAN,B3KNS5_HUMAN	.	UPI000006ECC7	SNV	C7orf43,synonymous_variant,p.%3D,ENST00000456769,;C7orf43,synonymous_variant,p.%3D,ENST00000316937,;C7orf43,5_prime_UTR_variant,,ENST00000457641,;GAL3ST4,downstream_gene_variant,,ENST00000413800,;GAL3ST4,downstream_gene_variant,,ENST00000423751,;GAL3ST4,downstream_gene_variant,,ENST00000360039,;GAL3ST4,downstream_gene_variant,,ENST00000426974,;C7orf43,upstream_gene_variant,,ENST00000419841,;LAMTOR4,downstream_gene_variant,,ENST00000341942,;GAL3ST4,downstream_gene_variant,,ENST00000411994,;C7orf43,upstream_gene_variant,,ENST00000394035,;LAMTOR4,downstream_gene_variant,,ENST00000441173,;MIR4658,upstream_gene_variant,,ENST00000584344,;LAMTOR4,downstream_gene_variant,,ENST00000474831,;C7orf43,upstream_gene_variant,,ENST00000498638,;LAMTOR4,downstream_gene_variant,,ENST00000460732,;C7orf43,upstream_gene_variant,,ENST00000472061,;LAMTOR4,downstream_gene_variant,,ENST00000468582,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;LAMTOR4,downstream_gene_variant,,ENST00000474141,;LAMTOR4,downstream_gene_variant,,ENST00000488241,;GAL3ST4,downstream_gene_variant,,ENST00000498000,;LAMTOR4,downstream_gene_variant,,ENST00000466498,;C7orf43,synonymous_variant,p.%3D,ENST00000419037,;C7orf43,upstream_gene_variant,,ENST00000470260,;GAL3ST4,downstream_gene_variant,,ENST00000495882,;LAMTOR4,downstream_gene_variant,,ENST00000473459,;C7orf43,upstream_gene_variant,,ENST00000448720,;LAMTOR4,downstream_gene_variant,,ENST00000488338,;	606	112	114	SUCCESS
ADCY8	114	.	GRCh37	8	131833593	131833593	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	46	97	0	ENST00000286355.5:c.2749C>T	p.Gln917Ter	p.Q917*	ENST00000286355	NM_001115.2	917	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6363.1	2749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGTCCAT	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,stop_gained,p.Gln917Ter,ENST00000286355,;ADCY8,stop_gained,p.Gln786Ter,ENST00000377928,;	4842	97	94	SUCCESS
CLU	1191	.	GRCh37	8	27472176	27472176	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	.	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	69	163	0	ENST00000316403.10:c.-34G>A		p.*12*	ENST00000316403				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47832.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCAGCGG	NONE	.	.	.	.	.	ENSP00000315130	.	1/9	.	.	.	.	.	.	.	.	COSM1635738	1/9	PASS	ENST00000316403	Transcript	.	.	ENSG00000120885	2095	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CLUS_HUMAN	CLU	HGNC	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN	.	UPI0000127BA6	SNV	CLU,synonymous_variant,p.%3D,ENST00000560366,;CLU,5_prime_UTR_variant,,ENST00000316403,;CLU,5_prime_UTR_variant,,ENST00000523589,;CLU,5_prime_UTR_variant,,ENST00000519472,;CLU,5_prime_UTR_variant,,ENST00000522413,;CLU,5_prime_UTR_variant,,ENST00000523396,;CLU,upstream_gene_variant,,ENST00000560566,;CLU,upstream_gene_variant,,ENST00000523500,;CLU,upstream_gene_variant,,ENST00000520796,;CLU,upstream_gene_variant,,ENST00000546343,;CLU,upstream_gene_variant,,ENST00000520491,;CLU,upstream_gene_variant,,ENST00000519742,;CLU,upstream_gene_variant,,ENST00000405140,;CLU,upstream_gene_variant,,ENST00000522238,;CLU,non_coding_transcript_exon_variant,,ENST00000518050,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;	373	163	126	SUCCESS
ADAM18	8749	.	GRCh37	8	39564320	39564320	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	96	0	ENST00000265707.5:c.1914T>C	p.Asn638=	p.N638=	ENST00000265707	NM_014237.2	638	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS6113.1	1914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAATTTTGG	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28	.	.	ENSP00000265707	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,synonymous_variant,p.%3D,ENST00000541111,;ADAM18,synonymous_variant,p.%3D,ENST00000265707,;ADAM18,synonymous_variant,p.%3D,ENST00000379866,;ADAM18,non_coding_transcript_exon_variant,,ENST00000523755,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;ADAM18,non_coding_transcript_exon_variant,,ENST00000524117,;	1959	96	63	SUCCESS
ESRP1	54845	.	GRCh37	8	95654284	95654284	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752591294	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	53	0	ENST00000433389.2:c.233C>A	p.Ala78Glu	p.A78E	ENST00000433389	NM_001034915.2	78	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS47897.1	233	MUTECT|MUSE	.	CTCGGCGTCGC	NONE	.	.	Superfamily_domains:SSF53098,Gene3D:3.30.420.10,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Low_complexity_(Seg):seg	.	.	ENSP00000405738	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.491)	.	deleterious(0.02)	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,missense_variant,p.Ala78Glu,ENST00000433389,;ESRP1,missense_variant,p.Ala78Glu,ENST00000454170,;ESRP1,missense_variant,p.Ala78Glu,ENST00000423620,;ESRP1,missense_variant,p.Ala78Glu,ENST00000358397,;ESRP1,5_prime_UTR_variant,,ENST00000520385,;ESRP1,upstream_gene_variant,,ENST00000522756,;ESRP1,upstream_gene_variant,,ENST00000519505,;ESRP1,upstream_gene_variant,,ENST00000517610,;RP11-22C11.2,upstream_gene_variant,,ENST00000562760,;ESRP1,upstream_gene_variant,,ENST00000522920,;	423	53	63	SUCCESS
IFNE	338376	.	GRCh37	9	21481921	21481921	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	43	96	0	ENST00000448696.3:c.-228C>T		p.*76*	ENST00000448696	NM_176891.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34997.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGGAAGTA	NONE	.	.	.	.	.	ENSP00000418018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000448696	Transcript	.	.	ENSG00000184995	18163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNE_HUMAN	IFNE	HGNC	.	.	UPI000000D8A7	SNV	IFNE,5_prime_UTR_variant,,ENST00000448696,;MIR31HG,intron_variant,,ENST00000304425,;	392	96	71	SUCCESS
SHB	6461	.	GRCh37	9	38016074	38016074	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	42	0	ENST00000377707.3:c.772A>C	p.Ser258Arg	p.S258R	ENST00000377707	NM_003028.2	258	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS43806.1	772	RADIA|MUTECT|MUSE	.	TTTGCTCTTGA	NONE	.	.	hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF31	.	.	ENSP00000366936	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000377707	Transcript	.	.	ENSG00000107338	10838	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.46)	.	SHB_HUMAN	SHB	HGNC	.	.	UPI000021143B	SNV	SHB,missense_variant,p.Ser258Arg,ENST00000377700,;SHB,missense_variant,p.Ser258Arg,ENST00000377707,;RP11-613M10.9,missense_variant,p.Ser258Arg,ENST00000540557,;	1338	42	44	SUCCESS
ARMCX3	51566	.	GRCh37	X	100880299	100880299	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	39	78	0	ENST00000341189.4:c.330C>T	p.Ser110=	p.S110=	ENST00000341189	NM_016607.3	110	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14489.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCCCCAA	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF8	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	SNV	ARMCX3,synonymous_variant,p.%3D,ENST00000471229,;ARMCX3,synonymous_variant,p.%3D,ENST00000341189,;ARMCX3,synonymous_variant,p.%3D,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3,downstream_gene_variant,,ENST00000491568,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	1196	78	77	SUCCESS
ATP11C	286410	.	GRCh37	X	138839997	138839997	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	373	18	406	0	ENST00000327569.3:c.2679G>C	p.Leu893Phe	p.L893F	ENST00000327569	NM_173694.4	893	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS14668.1	2679	MUTECT|MUSE	.	TGGTACAAAAA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF38,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000332756	.	23/30	.	.	.	.	.	.	.	.	.	23/30	PASS	ENST00000327569	Transcript	.	.	ENSG00000101974	13554	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.18)	.	AT11C_HUMAN	ATP11C	HGNC	.	.	UPI000036777E	SNV	ATP11C,missense_variant,p.Leu893Phe,ENST00000370543,;ATP11C,missense_variant,p.Leu893Phe,ENST00000361648,;ATP11C,missense_variant,p.Leu893Phe,ENST00000327569,;ATP11C,missense_variant,p.Leu887Phe,ENST00000370557,;ATP11C,missense_variant,p.Leu893Phe,ENST00000359686,;ATP11C,non_coding_transcript_exon_variant,,ENST00000471746,;ATP11C,non_coding_transcript_exon_variant,,ENST00000460773,;	2778	406	391	SUCCESS
AKAP17A	8227	.	GRCh37	X	1720179	1720179	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs199895489	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	52	0	ENST00000313871.3:c.1780G>C	p.Gly594Arg	p.G594R	ENST00000313871	NM_005088.2	594	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS14116.1	1780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGGGCTT	NONE	.	.	hmmpanther:PTHR12484:SF2,hmmpanther:PTHR12484	.	.	ENSP00000324827	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000313871	Transcript	.	.	ENSG00000197976	18783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.95)	.	AK17A_HUMAN	AKAP17A	HGNC	.	.	UPI00001AF072	SNV	AKAP17A,missense_variant,p.Gly594Arg,ENST00000313871,;AKAP17A,downstream_gene_variant,,ENST00000381261,;AKAP17A,3_prime_UTR_variant,,ENST00000474361,;	1976	52	71	SUCCESS
SYN1	6853	.	GRCh37	X	47479089	47479089	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	592	75	589	0	ENST00000295987.7:c.39T>C	p.Phe13=	p.F13=	ENST00000295987	NM_006950.3	13	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS14280.1	39	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATAAAGTT	NONE	.	.	hmmpanther:PTHR10841,hmmpanther:PTHR10841:SF8,Pfam_domain:PF10581	.	.	ENSP00000295987	.	1/13	.	.	.	.	.	.	.	.	COSM1121874,COSM1599477	1/13	PASS	ENST00000295987	Transcript	.	.	ENSG00000008056	11494	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	SYN1_HUMAN	SYN1	HGNC	.	.	UPI0000167B47	SNV	SYN1,synonymous_variant,p.%3D,ENST00000340666,;SYN1,synonymous_variant,p.%3D,ENST00000295987,;CFP,downstream_gene_variant,,ENST00000247153,;CFP,downstream_gene_variant,,ENST00000396992,;CFP,downstream_gene_variant,,ENST00000485991,;CFP,downstream_gene_variant,,ENST00000478222,;	164	589	668	SUCCESS
DDX3Y	8653	.	GRCh37	Y	15029320	15029320	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	71	87	0	ENST00000336079.3:c.1769G>C	p.Arg590Thr	p.R590T	ENST00000336079	NM_001122665.1	590	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS14782.1	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATAGATTCA	NONE	.	.	hmmpanther:PTHR24031:SF195,hmmpanther:PTHR24031	.	.	ENSP00000336725	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000336079	Transcript	1	.	ENSG00000067048	2699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.244)	.	deleterious(0.03)	.	DDX3Y_HUMAN	DDX3Y	HGNC	C9J8G5_HUMAN	.	UPI00000741D9	SNV	DDX3Y,missense_variant,p.Arg590Thr,ENST00000360160,;DDX3Y,missense_variant,p.Arg590Thr,ENST00000336079,;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000495478,;	1875	87	121	SUCCESS
ATRNL1	26033	.	GRCh37	10	117075120	117075120	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1229952017	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	80	0	ENST00000355044.3:c.2911C>T	p.His971Tyr	p.H971Y	ENST00000355044	NM_207303.2	971	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS7592.1	2911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACATTGC	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000347152	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.His101Tyr,ENST00000526373,;ATRNL1,missense_variant,p.His68Tyr,ENST00000423111,;ATRNL1,missense_variant,p.His971Tyr,ENST00000355044,;ATRNL1,5_prime_UTR_variant,,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	3037	80	79	SUCCESS
HMX3	340784	.	GRCh37	10	124895890	124895890	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	55	99	0	ENST00000357878.5:c.324C>T	p.His108=	p.H108=	ENST00000357878	NM_001105574.1	108	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS41575.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCACTACCT	NONE	.	.	hmmpanther:PTHR24325,hmmpanther:PTHR24325:SF19	.	.	ENSP00000350549	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000357878	Transcript	.	.	ENSG00000188620	5019	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMX3_HUMAN	HMX3	HGNC	.	.	UPI000047C635	SNV	HMX3,synonymous_variant,p.%3D,ENST00000357878,;	413	99	131	SUCCESS
RGR	5995	.	GRCh37	10	86010196	86010196	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	9	103	0	ENST00000359452.4:c.370+1397G>C		p.*124*	ENST00000359452	NM_002921.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7374.1	.	MUTECT|MUSE|VARSCANS	.	CTCTTGTCCAC	NONE	.	.	.	.	.	ENSP00000352427	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359452	Transcript	1	.	ENSG00000148604	9990	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGR_HUMAN	RGR	HGNC	.	.	UPI0000072293	SNV	RGR,3_prime_UTR_variant,,ENST00000372092,;RGR,intron_variant,,ENST00000358110,;RGR,intron_variant,,ENST00000359452,;RGR,intron_variant,,ENST00000478727,;RGR,intron_variant,,ENST00000483660,;RGR,intron_variant,,ENST00000497161,;RGR,intron_variant,,ENST00000483744,;RGR,downstream_gene_variant,,ENST00000469446,;RGR,upstream_gene_variant,,ENST00000479725,;RGR,intron_variant,,ENST00000483771,;	.	103	111	SUCCESS
OR10G4	390264	.	GRCh37	11	123886338	123886338	+	synonymous_variant	Silent	SNP	A	A	T	rs539322343	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	16	140	0	ENST00000320891.4:c.57A>T	p.Pro19=	p.P19=	ENST00000320891	NM_001004462.1	19	ccA/ccT	0	.	G:0	.	G:0.0014	.	T	P	protein_coding	YES	CCDS31702.1	57	MUTECT|MUSE|VARSCANS	.	GCCCCAGGGCT	NONE	by1000G	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G:0	.	ENSP00000325076	G:0	1/1	.	.	.	.	.	.	.	.	rs539322343	1/1	PASS	ENST00000320891	Transcript	.	G:0.0002	ENSG00000254737	14809	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	O10G4_HUMAN	OR10G4	HGNC	.	.	UPI0000041BAD	SNV	OR10G4,synonymous_variant,p.%3D,ENST00000320891,;	57	140	193	SUCCESS
SLC35C1	55343	.	GRCh37	11	45832352	45832352	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	44	0	ENST00000314134.3:c.561G>C	p.Gln187His	p.Q187H	ENST00000314134	NM_018389.4	187	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS7914.1	561	MUTECT|MUSE|VARSCANS	.	GACCAGGAGGG	NONE	.	.	hmmpanther:PTHR11132:SF36,hmmpanther:PTHR11132	.	.	ENSP00000313318	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314134	Transcript	.	.	ENSG00000181830	20197	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	FUCT1_HUMAN	SLC35C1	HGNC	Q96K20_HUMAN,E9PS26_HUMAN,E9PPI4_HUMAN,B3KQH0_HUMAN	.	UPI000012A5BB	SNV	SLC35C1,missense_variant,p.Gln174His,ENST00000442528,;SLC35C1,missense_variant,p.Gln174His,ENST00000456334,;SLC35C1,missense_variant,p.Gln187His,ENST00000314134,;SLC35C1,downstream_gene_variant,,ENST00000530471,;SLC35C1,downstream_gene_variant,,ENST00000526817,;CTD-2210P24.6,upstream_gene_variant,,ENST00000534128,;	1957	44	43	SUCCESS
OR5L1	219437	.	GRCh37	11	55579749	55579749	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	94	0	ENST00000333973.2:c.807T>C	p.Asp269=	p.D269=	ENST00000333973	NM_001004738.1	269	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS31509.1	807	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATGCTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,synonymous_variant,p.%3D,ENST00000333973,;	896	94	100	SUCCESS
CATSPER1	117144	.	GRCh37	11	65789252	65789252	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	16	139	0	ENST00000312106.5:c.1528T>C	p.Phe510Leu	p.F510L	ENST00000312106	NM_053054.3	510	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS8127.1	1528	MUTECT|MUSE|VARSCANS	.	CCAGAAGTCAA	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32	.	.	ENSP00000309052	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000312106	Transcript	.	.	ENSG00000175294	17116	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.447)	.	tolerated(0.33)	.	CTSR1_HUMAN	CATSPER1	HGNC	.	.	UPI000045651C	SNV	CATSPER1,missense_variant,p.Phe510Leu,ENST00000312106,;CATSPER1,upstream_gene_variant,,ENST00000529244,;	1666	139	182	SUCCESS
RNF169	254225	.	GRCh37	11	74547698	74547698	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775586495	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	49	0	ENST00000299563.4:c.2050A>G	p.Arg684Gly	p.R684G	ENST00000299563	NM_001098638.1	684	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS41691.1	2050	MUTECT|MUSE	.	ATGAGAGGCGG	NONE	.	.	hmmpanther:PTHR23328:SF2,hmmpanther:PTHR23328	.	.	ENSP00000299563	.	6/6	.	.	.	.	.	.	.	.	rs775586495	6/6	PASS	ENST00000299563	Transcript	.	.	ENSG00000166439	26961	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	tolerated(0.08)	.	RN169_HUMAN	RNF169	HGNC	.	.	UPI00001C1F15	SNV	RNF169,missense_variant,p.Arg55Gly,ENST00000527301,;RNF169,missense_variant,p.Arg684Gly,ENST00000299563,;XRRA1,downstream_gene_variant,,ENST00000321448,;XRRA1,downstream_gene_variant,,ENST00000340360,;XRRA1,intron_variant,,ENST00000530562,;XRRA1,downstream_gene_variant,,ENST00000531849,;	2063	49	63	SUCCESS
KRT83	3889	.	GRCh37	12	52710776	52710776	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	60	0	ENST00000293670.3:c.782A>T	p.Asp261Val	p.D261V	ENST00000293670	NM_002282.3	261	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS8823.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGTCTGAG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038	.	.	ENSP00000293670	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000293670	Transcript	.	.	ENSG00000170523	6460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	KRT83_HUMAN	KRT83	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000070AF2	SNV	KRT83,missense_variant,p.Asp261Val,ENST00000293670,;AC121757.1,downstream_gene_variant,,ENST00000594763,;	845	60	78	SUCCESS
TIMELESS	8914	.	GRCh37	12	56817448	56817448	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	50	0	ENST00000553532.1:c.2010G>A	p.Glu670=	p.E670=	ENST00000553532		670	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8918.1	2010	MUTECT|MUSE	.	TCCTCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	17/29	.	.	.	.	.	.	.	.	COSM468676	17/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,synonymous_variant,p.%3D,ENST00000553532,;TIMELESS,synonymous_variant,p.%3D,ENST00000229201,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,upstream_gene_variant,,ENST00000553314,;TIMELESS,upstream_gene_variant,,ENST00000555808,;	2161	50	69	SUCCESS
AGAP2	116986	.	GRCh37	12	58131312	58131312	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs561812307	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	76	0	ENST00000547588.1:c.718G>A	p.Ala240Thr	p.A240T	ENST00000547588	NM_001122772.2	240	Gcc/Acc	0	.	A:0	.	A:0	.	T	A/T	protein_coding	YES	CCDS44932.1	718	MUTECT|MUSE	.	GGCGGCGGTGG	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000449241	A:0	1/19	.	.	.	.	.	.	.	.	rs561812307,COSM1196003	1/19	PASS	ENST00000547588	Transcript	.	A:0.0002	ENSG00000135439	16921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0)	A:0.001	tolerated_low_confidence(0.21)	0,1	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,missense_variant,p.Ala104Thr,ENST00000328568,;AGAP2,missense_variant,p.Ala240Thr,ENST00000547588,;AGAP2,intron_variant,,ENST00000257897,;TSPAN31,upstream_gene_variant,,ENST00000550528,;TSPAN31,upstream_gene_variant,,ENST00000553221,;TSPAN31,upstream_gene_variant,,ENST00000547311,;	718	76	72	SUCCESS
MSRB3	253827	.	GRCh37	12	65672604	65672604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1346209898	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	11	138	0	ENST00000355192.3:c.56T>C	p.Leu19Pro	p.L19P	ENST00000355192	NM_198080.3	19	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS8973.1	56	MUTECT|MUSE	.	CTGCCTCTGCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10173:SF24,hmmpanther:PTHR10173	.	.	ENSP00000347324	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000355192	Transcript	.	.	ENSG00000174099	27375	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	MSRB3_HUMAN	MSRB3	HGNC	Q6MZU8_HUMAN	.	UPI0000051E32	SNV	MSRB3,missense_variant,p.Leu19Pro,ENST00000540804,;MSRB3,missense_variant,p.Leu19Pro,ENST00000355192,;MSRB3,missense_variant,p.Leu28Pro,ENST00000541189,;MSRB3,5_prime_UTR_variant,,ENST00000308259,;MSRB3,5_prime_UTR_variant,,ENST00000535664,;MSRB3,upstream_gene_variant,,ENST00000538045,;MSRB3,upstream_gene_variant,,ENST00000535239,;RP11-305O6.3,upstream_gene_variant,,ENST00000545709,;MSRB3,non_coding_transcript_exon_variant,,ENST00000538725,;MSRB3,missense_variant,p.Leu19Pro,ENST00000541897,;	182	138	146	SUCCESS
EPYC	1833	.	GRCh37	12	91365776	91365776	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	57	0	ENST00000261172.3:c.503A>G	p.Asp168Gly	p.D168G	ENST00000261172	NM_004950.4	168	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS31870.1	503	MUTECT|MUSE	.	TTAAATCACCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF4,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000261172	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000261172	Transcript	.	.	ENSG00000083782	3053	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.263)	.	tolerated(0.06)	.	EPYC_HUMAN	EPYC	HGNC	F8VSI4_HUMAN	.	UPI000013D136	SNV	EPYC,missense_variant,p.Asp168Gly,ENST00000551767,;EPYC,missense_variant,p.Asp168Gly,ENST00000261172,;EPYC,downstream_gene_variant,,ENST00000550203,;	596	57	91	SUCCESS
HSPH1	10808	.	GRCh37	13	31724104	31724104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	52	110	0	ENST00000320027.5:c.1124G>T	p.Gly375Val	p.G375V	ENST00000320027	NM_006644.2	375	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9340.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCCTCTG	NONE	.	.	hmmpanther:PTHR19375:SF18,hmmpanther:PTHR19375,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301	.	.	ENSP00000318687	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000320027	Transcript	.	.	ENSG00000120694	16969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HS105_HUMAN	HSPH1	HGNC	.	.	UPI0000001C62	SNV	HSPH1,missense_variant,p.Gly194Val,ENST00000429785,;HSPH1,missense_variant,p.Gly375Val,ENST00000320027,;HSPH1,missense_variant,p.Gly334Val,ENST00000380406,;HSPH1,missense_variant,p.Gly377Val,ENST00000445273,;HSPH1,missense_variant,p.Gly375Val,ENST00000380405,;HSPH1,3_prime_UTR_variant,,ENST00000602786,;	1469	110	64	SUCCESS
MYCBP2	23077	.	GRCh37	13	77842001	77842001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	68	92	0	ENST00000357337.6:c.1218G>T	p.Glu406Asp	p.E406D	ENST00000357337		406	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	.	1218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCTCCAG	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	8/83	.	.	.	.	.	.	.	.	.	8/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Glu406Asp,ENST00000357337,;MYCBP2,missense_variant,p.Glu406Asp,ENST00000544440,;MYCBP2,missense_variant,p.Glu444Asp,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;MYCBP2,downstream_gene_variant,,ENST00000474882,;	1236	92	179	SUCCESS
ATAD5	79915	.	GRCh37	17	29159374	29159374	+	synonymous_variant	Silent	SNP	G	G	A	rs774343582	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	47	0	ENST00000321990.4:c.9G>A	p.Gly3=	p.G3=	ENST00000321990	NM_024857.3	3	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS11260.1	9	MUTECT|MUSE	.	GTGGGGGTCCT	NONE	.	.	.	.	.	ENSP00000313171	.	1/23	.	.	.	.	.	.	.	.	rs774343582	1/23	PASS	ENST00000321990	Transcript	.	.	ENSG00000176208	25752	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,synonymous_variant,p.%3D,ENST00000321990,;CTD-2349P21.11,downstream_gene_variant,,ENST00000580873,;ATAD5,synonymous_variant,p.%3D,ENST00000578295,;ATAD5,upstream_gene_variant,,ENST00000585133,;CTD-2349P21.1,downstream_gene_variant,,ENST00000490847,;	387	47	67	SUCCESS
DDX42	11325	.	GRCh37	17	61895280	61895280	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139222190	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	186	7	94	0	ENST00000389924.2:c.2339C>T	p.Pro780Leu	p.P780L	ENST00000389924	NM_203499.2	780	cCg/cTg	0	T:0	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS32704.1	2339	MUTECT|MUSE	.	CTACCCGTCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF125	T:0	T:0.0001	ENSP00000464050	T:0.002	19/19	.	.	.	.	.	.	.	.	rs139222190,COSM1237752	19/19	PASS	ENST00000578681	Transcript	.	T:0.0004	ENSG00000198231	18676	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.023)	T:0	deleterious_low_confidence(0.01)	0,1	DDX42_HUMAN	DDX42	HGNC	J3QRI2_HUMAN,B3KMI4_HUMAN	.	UPI000017DA3D	SNV	DDX42,missense_variant,p.Pro780Leu,ENST00000389924,;DDX42,missense_variant,p.Pro780Leu,ENST00000578681,;DDX42,missense_variant,p.Pro780Leu,ENST00000583590,;DDX42,missense_variant,p.Pro661Leu,ENST00000359353,;DDX42,missense_variant,p.Pro780Leu,ENST00000457800,;FTSJ3,downstream_gene_variant,,ENST00000427159,;DDX42,intron_variant,,ENST00000582985,;DDX42,non_coding_transcript_exon_variant,,ENST00000578593,;DDX42,non_coding_transcript_exon_variant,,ENST00000584010,;DDX42,non_coding_transcript_exon_variant,,ENST00000581767,;DDX42,downstream_gene_variant,,ENST00000584951,;FTSJ3,downstream_gene_variant,,ENST00000583202,;DDX42,downstream_gene_variant,,ENST00000579539,;DDX42,downstream_gene_variant,,ENST00000577940,;FTSJ3,downstream_gene_variant,,ENST00000579831,;FTSJ3,downstream_gene_variant,,ENST00000583901,;	2940	94	194	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62856309	62856309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	47	79	0	ENST00000319651.5:c.3955C>A	p.Pro1319Thr	p.P1319T	ENST00000319651		1319	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32708.1	3955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGTGTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23045	.	.	ENSP00000464535	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.13)	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,missense_variant,p.Pro1319Thr,ENST00000319651,;LRRC37A3,missense_variant,p.Pro1319Thr,ENST00000584306,;LRRC37A3,missense_variant,p.Pro357Thr,ENST00000400877,;LRRC37A3,missense_variant,p.Pro296Thr,ENST00000334962,;LRRC37A3,missense_variant,p.Pro437Thr,ENST00000339474,;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;	4486	79	183	SUCCESS
TP53	7157	.	GRCh37	17	7578402	7578402	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1057519980	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	122	0	ENST00000269305.4:c.528C>G	p.Cys176Trp	p.C176W	ENST00000269305	NM_001126112.2	176	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS11118.1	528	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGCAGCG	SITE|p.C176W|c.528C>G|12,CODON|p.0?|c.1_1182del1182|6,CODON|p.P177_C182delPHHERC|c.526_543del18|3,CODON|p.H178fs*69|c.528delC|3,CODON|p.C176*|c.528C>A|3,CODON|p.C44*|c.132C>A|3,CODON|p.C176*|c.528C>A|11,CODON|p.C83*|c.249C>A|3,CODON|p.C176*|c.528C>A|3,CODON|p.C176fs*71|c.526delT|7,CODON|p.C176F|c.527G>T|33,CODON|p.C44Y|c.131G>A|20,CODON|p.C176F|c.527G>T|133,CODON|p.C176Y|c.527G>A|73,CODON|p.C176F|c.527G>T|11,CODON|p.C176Y|c.527G>A|19,CODON|p.C176F|c.527G>T|33,CODON|p.C83Y|c.248G>A|19,CODON|p.C176Y|c.527G>A|19,CODON|p.C176S|c.527G>C|9,CODON|p.C83F|c.248G>T|33,CODON|p.C176Y|c.527G>A|11,CODON|p.C176Y|c.527G>A|9,CODON|p.C44F|c.131G>T|34,CODON|p.C176F|c.527G>T|17,BUFFER|p.P177_C182delPHHERC|c.529_546del18|9,BUFFER|p.E180K|c.538G>A|6,BUFFER|p.E180*|c.538G>T|14,BUFFER|p.H179Q|c.537T>A|7,BUFFER|p.H179Q|c.537T>A|16,BUFFER|p.H179Q|c.537T>A|7,BUFFER|p.H179Q|c.537T>A|5,BUFFER|p.H86Q|c.258T>A|7,BUFFER|p.H47Q|c.141T>A|7,BUFFER|p.H179Q|c.537T>G|9,BUFFER|p.H179R|c.536A>G|17,BUFFER|p.H179L|c.536A>T|40,BUFFER|p.H47R|c.140A>G|31,BUFFER|p.H86R|c.257A>G|30,BUFFER|p.H179L|c.536A>T|4,BUFFER|p.H179R|c.536A>G|136,BUFFER|p.H179L|c.536A>T|7,BUFFER|p.H179R|c.536A>G|30,BUFFER|p.H179L|c.536A>T|7,BUFFER|p.H47L|c.140A>T|9,BUFFER|p.H179P|c.536A>C|5,BUFFER|p.H179R|c.536A>G|21,BUFFER|p.H86L|c.257A>T|7,BUFFER|p.H179R|c.536A>G|30,BUFFER|p.H179Y|c.534_535CC>TT|8,BUFFER|p.H179D|c.535C>G|12,BUFFER|p.H179Y|c.535C>T|4,BUFFER|p.H47Y|c.139C>T|15,BUFFER|p.H179Y|c.535C>T|5,BUFFER|p.H179Y|c.535C>T|88,BUFFER|p.H179N|c.535C>A|15,BUFFER|p.H179Y|c.535C>T|14,BUFFER|p.H179Y|c.535C>T|14,BUFFER|p.H86Y|c.256C>T|14,BUFFER|p.H178Q|c.534C>A|5,BUFFER|p.H178fs*69|c.532delC|10,BUFFER|p.H178P|c.533A>C|7,BUFFER|p.H178D|c.532C>G|5,BUFFER|p.H178N|c.532C>A|3,BUFFER|p.H178Y|c.532C>T|7,BUFFER|p.P177P|c.531C>T|7,BUFFER|p.P177R|c.530C>G|3,BUFFER|p.P177L|c.530C>T|20,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P177R|c.530C>G|18,BUFFER|p.P177R|c.530C>G|3,BUFFER|p.P84L|c.251C>T|4,BUFFER|p.P45L|c.134C>T|4,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P177L|c.530C>T|3,BUFFER|p.P45R|c.134C>G|3,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P84R|c.251C>G|3,BUFFER|p.P177S|c.529C>T|10,BUFFER|p.C83S|c.247T>A|3,BUFFER|p.C44R|c.130T>C|4,BUFFER|p.C83R|c.247T>C|4,BUFFER|p.C176G|c.526T>G|4,BUFFER|p.C176S|c.526T>A|3,BUFFER|p.C44G|c.130T>G|4,BUFFER|p.C44S|c.130T>A|3,BUFFER|p.C176S|c.526T>A|12,BUFFER|p.C176R|c.526T>C|4,BUFFER|p.C176S|c.526T>A|3,BUFFER|p.C83G|c.247T>G|4,BUFFER|p.C176G|c.526T>G|7,BUFFER|p.C176R|c.526T>C|4,BUFFER|p.C176G|c.526T>G|4,BUFFER|p.C176R|c.526T>C|13,BUFFER|p.C176fs*5|c.525_526insN|3,BUFFER|p.R175L|c.524G>T|20,BUFFER|p.R175H|c.524G>A|181,BUFFER|p.R175P|c.524G>C|6,BUFFER|p.R43H|c.128G>A|183,BUFFER|p.R82H|c.245G>A|183,BUFFER|p.R175H|c.524G>A|124,BUFFER|p.R175L|c.524G>T|3,BUFFER|p.R175L|c.524G>T|3,BUFFER|p.R175H|c.524G>A|180,BUFFER|p.R175H|c.524G>A|926,BUFFER|p.R175L|c.524G>T|3,BUFFER|p.R175H|c.524G>A|88,BUFFER|p.R43L|c.128G>T|3,BUFFER|p.R82L|c.245G>T|3,BUFFER|p.R175C|c.523C>T|18,BUFFER|p.R175S|c.523C>A|6,BUFFER|p.R82G|c.244C>G|5,BUFFER|p.R175C|c.523C>T|4,BUFFER|p.R43G|c.127C>G|8,BUFFER|p.R175G|c.523C>G|5,BUFFER|p.R43C|c.127C>T|4,BUFFER|p.R175G|c.523C>G|5,BUFFER|p.R82C|c.244C>T|4,BUFFER|p.R175G|c.523C>G|16,BUFFER|p.R175C|c.523C>T|4,BUFFER|p.R174K|c.521G>A|5,BUFFER|p.R174W|c.520A>T|11,BUFFER|p.V173V|c.519G>A|6,BUFFER|p.V173V|c.519G>T|3,BUFFER|p.V173A|c.518T>C|14,BUFFER|p.V173G|c.518T>G|8,BUFFER|p.V173E|c.518T>A|4,BUFFER|p.V41E|c.122T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V80E|c.239T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V173fs*1|c.517delG|4,BUFFER|p.V41L|c.121G>T|9,BUFFER|p.V80L|c.238G>T|9,BUFFER|p.V173M|c.517G>A|10,BUFFER|p.V80L|c.238G>C|5,BUFFER|p.V41M|c.121G>A|11,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|11,BUFFER|p.V173L|c.517G>C|15,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V80M|c.238G>A|11,BUFFER|p.V173L|c.517G>T|52,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173M|c.517G>A|50,BUFFER|p.V41L|c.121G>C|5,BUFFER|p.V173M|c.517G>A|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	TP53_g.12516C>G,TP53_g.12516C>A,TP53_g.12516del,TP53_g.12516C>T,COSM44134,COSM11114,COSM43734,COSM179823,COSM1268357,COSM179822,COSM1268358,COSM179824,COSM1268360,COSM179825,COSM1268359	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Cys176Trp,ENST00000413465,;TP53,missense_variant,p.Cys176Trp,ENST00000420246,;TP53,missense_variant,p.Cys176Trp,ENST00000269305,;TP53,missense_variant,p.Cys44Trp,ENST00000509690,;TP53,missense_variant,p.Cys176Trp,ENST00000359597,;TP53,missense_variant,p.Cys83Trp,ENST00000514944,;TP53,missense_variant,p.Cys176Trp,ENST00000445888,;TP53,missense_variant,p.Cys176Trp,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	718	123	67	SUCCESS
ENDOV	284131	.	GRCh37	17	78389335	78389335	+	intron_variant	Intron	SNP	C	C	T	rs555721281	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	63	0	ENST00000518137.1:c.57-115C>T		p.*19*	ENST00000518137	NM_173627.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS54172.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCCCTTG	NONE	by1000G	.	.	T:0.001	.	ENSP00000429190	T:0	.	.	.	.	.	.	.	.	.	rs555721281	.	PASS	ENST00000518137	Transcript	.	T:0.0002	ENSG00000173818	26640	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ENDOV_HUMAN	ENDOV	HGNC	I3L4V7_HUMAN,I3L1V3_HUMAN,E5RHX4_HUMAN	.	UPI0000072E31	SNV	ENDOV,5_prime_UTR_variant,,ENST00000522200,;ENDOV,5_prime_UTR_variant,,ENST00000517795,;ENDOV,5_prime_UTR_variant,,ENST00000522751,;ENDOV,5_prime_UTR_variant,,ENST00000518907,;ENDOV,5_prime_UTR_variant,,ENST00000518901,;ENDOV,intron_variant,,ENST00000523999,;ENDOV,intron_variant,,ENST00000518644,;ENDOV,intron_variant,,ENST00000523828,;ENDOV,intron_variant,,ENST00000520367,;ENDOV,intron_variant,,ENST00000518137,;ENDOV,intron_variant,,ENST00000323854,;ENDOV,intron_variant,,ENST00000520136,;ENDOV,intron_variant,,ENST00000523228,;ENDOV,intron_variant,,ENST00000520284,;ENDOV,intron_variant,,ENST00000521565,;ENDOV,upstream_gene_variant,,ENST00000517295,;MIR4730,upstream_gene_variant,,ENST00000584535,;CTD-2047H16.4,upstream_gene_variant,,ENST00000572151,;CTD-2047H16.4,upstream_gene_variant,,ENST00000575034,;CTD-2047H16.4,upstream_gene_variant,,ENST00000573394,;ENDOV,non_coding_transcript_exon_variant,,ENST00000521830,;ENDOV,non_coding_transcript_exon_variant,,ENST00000521847,;ENDOV,intron_variant,,ENST00000521330,;ENDOV,upstream_gene_variant,,ENST00000520910,;ENDOV,upstream_gene_variant,,ENST00000523165,;ENDOV,intron_variant,,ENST00000522577,;ENDOV,intron_variant,,ENST00000520537,;ENDOV,intron_variant,,ENST00000520484,;ENDOV,intron_variant,,ENST00000519117,;ENDOV,intron_variant,,ENST00000520118,;ENDOV,upstream_gene_variant,,ENST00000520565,;	.	63	81	SUCCESS
CD7	924	.	GRCh37	17	80275365	80275365	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs754807783	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	17	170	0	ENST00000312648.3:c.7G>C	p.Gly3Arg	p.G3R	ENST00000312648	NM_006137.6	3	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS11807.1	7	MUTECT|MUSE	.	AGGCCCGGCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15343,hmmpanther:PTHR15343:SF0	.	.	ENSP00000312027	.	1/4	.	.	.	.	.	.	.	.	rs754807783	1/4	PASS	ENST00000312648	Transcript	.	.	ENSG00000173762	1695	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.63)	.	CD7_HUMAN	CD7	HGNC	Q29VG3_HUMAN,Q29VG2_HUMAN,J3QLC7_HUMAN	.	UPI00000359A4	SNV	CD7,missense_variant,p.Gly3Arg,ENST00000582480,;CD7,missense_variant,p.Gly3Arg,ENST00000584284,;CD7,missense_variant,p.Gly3Arg,ENST00000312648,;CD7,5_prime_UTR_variant,,ENST00000583376,;CD7,5_prime_UTR_variant,,ENST00000578509,;SECTM1,downstream_gene_variant,,ENST00000580437,;SECTM1,downstream_gene_variant,,ENST00000269389,;CD7,missense_variant,p.Gly3Arg,ENST00000581434,;CD7,non_coding_transcript_exon_variant,,ENST00000581744,;SECTM1,downstream_gene_variant,,ENST00000581864,;	114	170	289	SUCCESS
TTC39C	125488	.	GRCh37	18	21644129	21644129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	35	84	0	ENST00000317571.3:c.193G>A	p.Gly65Arg	p.G65R	ENST00000317571	NM_001135993.1	65	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS45839.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGGAGCC	NONE	.	.	Pfam_domain:PF10300,hmmpanther:PTHR31859	.	.	ENSP00000323645	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000317571	Transcript	.	.	ENSG00000168234	26595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TT39C_HUMAN	TTC39C	HGNC	J3QKX7_HUMAN	.	UPI0000EF8875	SNV	TTC39C,missense_variant,p.Gly65Arg,ENST00000317571,;TTC39C,missense_variant,p.Gly4Arg,ENST00000304621,;TTC39C,non_coding_transcript_exon_variant,,ENST00000578150,;	429	84	67	SUCCESS
WDR7	23335	.	GRCh37	18	54426112	54426112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	73	0	ENST00000254442.3:c.2776A>G	p.Thr926Ala	p.T926A	ENST00000254442	NM_015285.2	926	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS11962.1	2776	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCACCCCA	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48	.	.	ENSP00000254442	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000254442	Transcript	.	.	ENSG00000091157	13490	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.167)	.	tolerated(0.09)	.	WDR7_HUMAN	WDR7	HGNC	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN	.	UPI000013CE33	SNV	WDR7,missense_variant,p.Thr926Ala,ENST00000254442,;WDR7,missense_variant,p.Thr926Ala,ENST00000357574,;WDR7,intron_variant,,ENST00000589935,;WDR7,downstream_gene_variant,,ENST00000585824,;WDR7,downstream_gene_variant,,ENST00000590557,;WDR7,downstream_gene_variant,,ENST00000587403,;WDR7,non_coding_transcript_exon_variant,,ENST00000591524,;	2987	73	62	SUCCESS
DSEL	92126	.	GRCh37	18	65180609	65180609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	148	0	ENST00000310045.7:c.1267C>A	p.Pro423Thr	p.P423T	ENST00000310045	NM_032160.2	423	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS11995.1	1267	MUTECT|MUSE	.	GTTAGGGAATG	NONE	.	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.227)	.	tolerated(0.74)	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Pro423Thr,ENST00000310045,;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	2741	148	110	SUCCESS
ZNF781	163115	.	GRCh37	19	38160324	38160324	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	40	53	0	ENST00000358582.4:c.726G>T	p.Leu242=	p.L242=	ENST00000358582	NM_152605.3	242	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12507.1	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCAGAAA	NONE	.	.	hmmpanther:PTHR24409:SF13,hmmpanther:PTHR24409	.	.	ENSP00000351391	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358582	Transcript	.	.	ENSG00000196381	26745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN781_HUMAN	ZNF781	HGNC	.	.	UPI0000351D6C	SNV	ZNF781,synonymous_variant,p.%3D,ENST00000590008,;ZNF781,synonymous_variant,p.%3D,ENST00000358582,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000589676,;ZFP30,intron_variant,,ENST00000586732,;ZNF781,downstream_gene_variant,,ENST00000593040,;	1475	53	70	SUCCESS
YIF1B	90522	.	GRCh37	19	38798281	38798281	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	7	134	0	ENST00000339413.6:c.651C>A	p.Leu217=	p.L217=	ENST00000339413	NM_001039673.2	217	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33010.1	651	MUTECT|MUSE	.	GTGGTGAGGTC	NONE	.	.	hmmpanther:PTHR14083,hmmpanther:PTHR14083:SF1,Pfam_domain:PF03878	.	.	ENSP00000343435	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000339413	Transcript	.	.	ENSG00000167645	30511	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YIF1B_HUMAN	YIF1B	HGNC	K7EJQ6_HUMAN	.	UPI00005AB2F2	SNV	YIF1B,synonymous_variant,p.%3D,ENST00000592246,;YIF1B,synonymous_variant,p.%3D,ENST00000337679,;YIF1B,synonymous_variant,p.%3D,ENST00000592694,;YIF1B,synonymous_variant,p.%3D,ENST00000329420,;YIF1B,synonymous_variant,p.%3D,ENST00000339413,;YIF1B,synonymous_variant,p.%3D,ENST00000589247,;YIF1B,synonymous_variant,p.%3D,ENST00000591784,;YIF1B,synonymous_variant,p.%3D,ENST00000392124,;YIF1B,synonymous_variant,p.%3D,ENST00000591755,;YIF1B,intron_variant,,ENST00000588002,;C19orf33,downstream_gene_variant,,ENST00000588605,;C19orf33,downstream_gene_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589644,;YIF1B,non_coding_transcript_exon_variant,,ENST00000585563,;YIF1B,upstream_gene_variant,,ENST00000589151,;C19orf33,downstream_gene_variant,,ENST00000591852,;C19orf33,downstream_gene_variant,,ENST00000589986,;	697	134	133	SUCCESS
SLC8A2	6543	.	GRCh37	19	47951333	47951333	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	41	91	0	ENST00000236877.6:c.1496G>A	p.Gly499Asp	p.G499D	ENST00000236877	NM_015063.2	499	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33065.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCCGCCG	NONE	.	.	Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845,hmmpanther:PTHR11878	.	.	ENSP00000236877	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000236877	Transcript	.	.	ENSG00000118160	11069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.39)	.	NAC2_HUMAN	SLC8A2	HGNC	M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN	.	UPI000012FC49	SNV	SLC8A2,missense_variant,p.Gly255Asp,ENST00000542837,;SLC8A2,missense_variant,p.Gly499Asp,ENST00000236877,;SLC8A2,intron_variant,,ENST00000539381,;SLC8A2,upstream_gene_variant,,ENST00000601757,;	1892	91	108	SUCCESS
KPRP	448834	.	GRCh37	1	152733003	152733003	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	24	61	0	ENST00000606109.1:c.939C>T	p.Pro313=	p.P313=	ENST00000606109		313	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS30862.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCATTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,synonymous_variant,p.%3D,ENST00000368773,;KPRP,synonymous_variant,p.%3D,ENST00000606109,;	997	61	119	SUCCESS
ATP8B2	57198	.	GRCh37	1	154310110	154310110	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	276	72	124	0	ENST00000368489.3:c.1133+90G>T		p.*378*	ENST00000368489	NM_020452.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1066.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGTAACG	NONE	.	.	.	.	.	ENSP00000357475	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368489	Transcript	.	.	ENSG00000143515	13534	.	.	MODIFIER	12/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT8B2_HUMAN	ATP8B2	HGNC	Q6P3T1_HUMAN	.	UPI00001B92AB	SNV	ATP8B2,missense_variant,p.Ser375Ile,ENST00000368487,;ATP8B2,intron_variant,,ENST00000368489,;ATP8B2,intron_variant,,ENST00000341822,;RNU7-57P,upstream_gene_variant,,ENST00000459540,;ATP8B2,intron_variant,,ENST00000426445,;	.	124	349	SUCCESS
PADI3	51702	.	GRCh37	1	17586227	17586227	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	134	0	ENST00000375460.3:c.247C>G	p.Pro83Ala	p.P83A	ENST00000375460	NM_016233.2	83	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS179.1	247	MUTECT|MUSE|VARSCANS	.	ACTCCCCCAGC	NONE	.	.	hmmpanther:PTHR10837:SF2,hmmpanther:PTHR10837,Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF49503	.	.	ENSP00000364609	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000375460	Transcript	.	.	ENSG00000142619	18337	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.247)	.	tolerated(1)	.	PADI3_HUMAN	PADI3	HGNC	.	.	UPI000013D8A0	SNV	PADI3,missense_variant,p.Pro83Ala,ENST00000375460,;	287	134	69	SUCCESS
CDK18	5129	.	GRCh37	1	205495307	205495307	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs757990902	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	23	150	0	ENST00000506784.1:c.661G>A	p.Val221Met	p.V221M	ENST00000506784		221	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1454.1	661	MUTECT|MUSE	.	GAGAGGGTACA	NONE	byFrequency	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24056:SF52,hmmpanther:PTHR24056,PROSITE_profiles:PS50011	.	.	ENSP00000423665	.	6/16	.	.	.	.	.	.	.	.	rs757990902	6/16	PASS	ENST00000506784	Transcript	.	.	ENSG00000117266	8751	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CDK18_HUMAN	CDK18	HGNC	Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN	.	UPI000035030C	SNV	CDK18,missense_variant,p.Val102Met,ENST00000478560,;CDK18,missense_variant,p.Val191Met,ENST00000360066,;CDK18,missense_variant,p.Val221Met,ENST00000506784,;CDK18,missense_variant,p.Val221Met,ENST00000419301,;CDK18,missense_variant,p.Val191Met,ENST00000429964,;CDK18,downstream_gene_variant,,ENST00000443813,;CDK18,downstream_gene_variant,,ENST00000506215,;CDK18,splice_region_variant,,ENST00000509056,;CDK18,splice_region_variant,,ENST00000505932,;CDK18,upstream_gene_variant,,ENST00000484080,;CDK18,upstream_gene_variant,,ENST00000506489,;CDK18,downstream_gene_variant,,ENST00000507067,;CDK18,upstream_gene_variant,,ENST00000515514,;CDK18,downstream_gene_variant,,ENST00000507240,;CDK18,upstream_gene_variant,,ENST00000468954,;CDK18,upstream_gene_variant,,ENST00000512008,;CDK18,upstream_gene_variant,,ENST00000459862,;CDK18,splice_region_variant,,ENST00000476153,;CDK18,splice_region_variant,,ENST00000504648,;CDK18,splice_region_variant,,ENST00000512922,;CDK18,splice_region_variant,,ENST00000515494,;CDK18,upstream_gene_variant,,ENST00000489617,;CDK18,downstream_gene_variant,,ENST00000462976,;CDK18,upstream_gene_variant,,ENST00000504162,;	881	150	307	SUCCESS
TMEM206	0	.	GRCh37	1	212558750	212558750	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369443875	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	16	115	0	ENST00000535273.1:c.544G>A	p.Gly182Ser	p.G182S	ENST00000535273	NM_001198862.1	182	Ggt/Agt	0	T:0	.	.	.	.	T	G/S	protein_coding	YES	CCDS55687.1	544	MUTECT|MUSE|VARSCANS	.	CTGACCGGGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR16087:SF0,hmmpanther:PTHR16087,Pfam_domain:PF15122	.	T:0.0001	ENSP00000438863	.	5/9	.	.	.	.	.	.	.	.	rs369443875	5/9	PASS	ENST00000535273	Transcript	.	.	ENSG00000065600	25593	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.02)	.	TM206_HUMAN	TMEM206	HGNC	B4DHQ5_HUMAN	.	UPI0001914DBE	SNV	TMEM206,missense_variant,p.Gly121Ser,ENST00000261455,;TMEM206,missense_variant,p.Gly182Ser,ENST00000535273,;TMEM206,non_coding_transcript_exon_variant,,ENST00000471937,;TMEM206,non_coding_transcript_exon_variant,,ENST00000467822,;	688	115	183	SUCCESS
COL8A2	1296	.	GRCh37	1	36563771	36563771	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	56	0	ENST00000303143.4:c.1511G>A	p.Gly504Glu	p.G504E	ENST00000303143	NM_005202.2	504	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS403.1	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022:SF74,hmmpanther:PTHR24022,Pfam_domain:PF01391	.	.	ENSP00000380901	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397799	Transcript	.	.	ENSG00000171812	2216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	CO8A2_HUMAN	COL8A2	HGNC	R9UH34_HUMAN,Q4VAQ1_HUMAN,E9PP49_HUMAN	.	UPI00001B2F2D	SNV	COL8A2,missense_variant,p.Gly504Glu,ENST00000303143,;COL8A2,missense_variant,p.Gly439Glu,ENST00000481785,;COL8A2,missense_variant,p.Gly504Glu,ENST00000397799,;ADPRHL2,downstream_gene_variant,,ENST00000373178,;	1736	56	51	SUCCESS
NEGR1	257194	.	GRCh37	1	71873213	71873213	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	374	40	496	0	ENST00000357731.5:c.981T>A	p.Asp327Glu	p.D327E	ENST00000357731	NM_173808.2	327	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS661.1	981	MUTECT|MUSE|VARSCANS	.	AGAACATCAGC	NONE	.	.	hmmpanther:PTHR19831:SF11,hmmpanther:PTHR19831	.	.	ENSP00000350364	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000357731	Transcript	.	.	ENSG00000172260	17302	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	NEGR1_HUMAN	NEGR1	HGNC	Q8N440_HUMAN,Q68DZ8_HUMAN	.	UPI00000477EE	SNV	NEGR1,missense_variant,p.Asp199Glu,ENST00000306821,;NEGR1,missense_variant,p.Asp281Glu,ENST00000434200,;NEGR1,missense_variant,p.Asp327Glu,ENST00000357731,;ZRANB2-AS2,intron_variant,,ENST00000583678,;ZRANB2-AS2,intron_variant,,ENST00000594152,;ZRANB2-AS2,intron_variant,,ENST00000600103,;ZRANB2-AS2,intron_variant,,ENST00000599146,;ZRANB2-AS2,intron_variant,,ENST00000430605,;ZRANB2-AS2,intron_variant,,ENST00000608579,;ZRANB2-AS2,upstream_gene_variant,,ENST00000585499,;ZRANB2-AS2,upstream_gene_variant,,ENST00000587306,;ZRANB2-AS2,upstream_gene_variant,,ENST00000586006,;ZRANB2-AS2,upstream_gene_variant,,ENST00000587066,;ZRANB2-AS2,upstream_gene_variant,,ENST00000585415,;ZRANB2-AS2,upstream_gene_variant,,ENST00000590186,;NEGR1,non_coding_transcript_exon_variant,,ENST00000474357,;	1221	496	414	SUCCESS
RRBP1	6238	.	GRCh37	20	17640636	17640636	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs141391805	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	66	0	ENST00000377807.2:c.517G>T	p.Ala173Ser	p.A173S	ENST00000377807	NM_001042576.1	173	Gct/Tct	0	T:0.0002	T:0.0008	.	T:0	.	A	A/S	protein_coding	YES	CCDS13128.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCAGTTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939	T:0	T:0	ENSP00000367038	T:0	3/26	.	.	.	.	.	.	.	.	rs141391805	3/26	PASS	ENST00000377807	Transcript	.	T:0.0002	ENSG00000125844	10448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	T:0	tolerated(0.26)	.	RRBP1_HUMAN	RRBP1	HGNC	F8W7S5_HUMAN	.	UPI000002B2C0	SNV	RRBP1,missense_variant,p.Ala173Ser,ENST00000246043,;RRBP1,missense_variant,p.Ala173Ser,ENST00000398782,;RRBP1,missense_variant,p.Ala173Ser,ENST00000360807,;RRBP1,missense_variant,p.Ala173Ser,ENST00000377813,;RRBP1,missense_variant,p.Ala173Ser,ENST00000377807,;RRBP1,intron_variant,,ENST00000455029,;RRBP1,upstream_gene_variant,,ENST00000495501,;	871	66	74	SUCCESS
STEAP3	55240	.	GRCh37	2	120005710	120005710	+	synonymous_variant	Silent	SNP	C	C	T	rs192949704	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	81	0	ENST00000393106.2:c.948C>T	p.His316=	p.H316=	ENST00000393106	NM_018234.2	316	caC/caT	0	T:0	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS42738.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGCCCT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239:SF7,hmmpanther:PTHR14239,Pfam_domain:PF01794	T:0.001	T:0.0001	ENSP00000376822	T:0	4/6	.	.	.	.	.	.	.	.	rs192949704	4/6	common_in_exac	ENST00000393110	Transcript	.	T:0.0002	ENSG00000115107	24592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	STEA3_HUMAN	STEAP3	HGNC	.	.	UPI0000207E04	SNV	STEAP3,synonymous_variant,p.%3D,ENST00000450943,;STEAP3,synonymous_variant,p.%3D,ENST00000393106,;STEAP3,synonymous_variant,p.%3D,ENST00000393108,;STEAP3,synonymous_variant,p.%3D,ENST00000409811,;STEAP3,synonymous_variant,p.%3D,ENST00000354888,;STEAP3,synonymous_variant,p.%3D,ENST00000393107,;STEAP3,synonymous_variant,p.%3D,ENST00000425223,;STEAP3,synonymous_variant,p.%3D,ENST00000393110,;STEAP3-AS1,intron_variant,,ENST00000454260,;	1429	81	76	SUCCESS
MBD5	55777	.	GRCh37	2	149240972	149240972	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	63	0	ENST00000407073.1:c.2812C>G	p.Leu938Val	p.L938V	ENST00000407073	NM_018328.4	938	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS33302.1	2812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATCTATTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14	.	.	ENSP00000386049	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.16)	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,missense_variant,p.Leu938Val,ENST00000407073,;MBD5,missense_variant,p.Leu938Val,ENST00000404807,;MBD5,missense_variant,p.Leu678Val,ENST00000416015,;MBD5,upstream_gene_variant,,ENST00000496893,;	3809	63	62	SUCCESS
XIRP2	129446	.	GRCh37	2	168100507	168100507	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	370	13	310	0	ENST00000409195.1:c.2605G>C	p.Gly869Arg	p.G869R	ENST00000409195	NM_152381.5	869	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS42769.1	2605	MUTECT|MUSE	.	TAATAGGTGGT	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	COSM3569447	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	.	1	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Gly647Arg,ENST00000409273,;XIRP2,missense_variant,p.Gly869Arg,ENST00000409195,;XIRP2,missense_variant,p.Gly869Arg,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2694	310	383	SUCCESS
SERPINE2	5270	.	GRCh37	2	224847395	224847398	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TACT	TACT	-	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	TACT	TACT	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	77	0	ENST00000258405.4:c.985_985+3del		p.X329_splice	ENST00000258405	NM_001136528.1	329		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46525.1	1021-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAACATACTTGTTA	NONE	.	.	.	.	.	ENSP00000415786	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000447280	Transcript	.	.	ENSG00000135919	8951	.	.	HIGH	6/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GDN_HUMAN	SERPINE2	HGNC	C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN,B4DMR3_HUMAN	.	UPI00017A7317	deletion	SERPINE2,splice_donor_variant,,ENST00000409840,;SERPINE2,splice_donor_variant,,ENST00000409304,;SERPINE2,splice_donor_variant,,ENST00000447280,;SERPINE2,splice_donor_variant,,ENST00000258405,;SERPINE2,downstream_gene_variant,,ENST00000432738,;SERPINE2,splice_donor_variant,,ENST00000478966,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000473202,;	1322-?	77	91	SUCCESS
LSG1	55341	.	GRCh37	3	194392959	194392959	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	11	11	0	ENST00000265245.5:c.-68G>T		p.*23*	ENST00000265245	NM_018385.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33922.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGATCCCCGG	NONE	.	.	.	.	.	ENSP00000265245	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000265245	Transcript	.	.	ENSG00000041802	25652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LSG1_HUMAN	LSG1	HGNC	.	.	UPI0000DBEEC1	SNV	LSG1,5_prime_UTR_variant,,ENST00000265245,;LSG1,non_coding_transcript_exon_variant,,ENST00000480853,;LSG1,upstream_gene_variant,,ENST00000427461,;	248	11	14	SUCCESS
FBXL2	25827	.	GRCh37	3	33420320	33420320	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	50	0	ENST00000484457.1:c.951+87C>A		p.*317*	ENST00000484457	NM_012157.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2658.1	.	MUTECT|MUSE	.	TCTTTCTGTAA	NONE	.	.	.	.	.	ENSP00000417601	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000484457	Transcript	.	.	ENSG00000153558	13598	.	.	MODIFIER	13/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBXL2_HUMAN	FBXL2	HGNC	B4DY12_HUMAN	.	UPI0000071E6D	SNV	FBXL2,missense_variant,p.Phe56Leu,ENST00000446237,;FBXL2,intron_variant,,ENST00000484457,;FBXL2,intron_variant,,ENST00000538892,;FBXL2,intron_variant,,ENST00000507198,;FBXL2,intron_variant,,ENST00000542085,;FBXL2,intron_variant,,ENST00000538181,;FBXL2,intron_variant,,ENST00000463736,;FBXL2,intron_variant,,ENST00000283627,;FBXL2,3_prime_UTR_variant,,ENST00000451636,;FBXL2,intron_variant,,ENST00000432809,;FBXL2,intron_variant,,ENST00000422741,;FBXL2,intron_variant,,ENST00000421391,;FBXL2,intron_variant,,ENST00000435207,;FBXL2,downstream_gene_variant,,ENST00000471208,;FBXL2,downstream_gene_variant,,ENST00000492662,;FBXL2,downstream_gene_variant,,ENST00000460186,;FBXL2,upstream_gene_variant,,ENST00000464990,;	.	50	41	SUCCESS
ANK2	287	.	GRCh37	4	114278698	114278698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	66	147	0	ENST00000357077.4:c.8924G>T	p.Ser2975Ile	p.S2975I	ENST00000357077	NM_001148.4	2975	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS3702.1	8924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGCTCCT	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Ser2942Ile,ENST00000264366,;ANK2,missense_variant,p.Ser2975Ile,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;	8977	147	132	SUCCESS
FGA	2243	.	GRCh37	4	155506805	155506805	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	27	86	0	ENST00000302053.3:c.1776A>G	p.Gly592=	p.G592=	ENST00000302053	NM_000508.3	592	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS3787.1	1776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCTCCTCT	NONE	.	.	hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,synonymous_variant,p.%3D,ENST00000302053,;FGA,synonymous_variant,p.%3D,ENST00000403106,;	1855	86	41	SUCCESS
UBE2K	3093	.	GRCh37	4	39780035	39780035	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	51	0	ENST00000261427.5:c.584A>G	p.Glu195Gly	p.E195G	ENST00000261427	NM_005339.4	195	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33976.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGAATTGC	NONE	.	.	PROSITE_profiles:PS50030,Gene3D:1.10.8.10,Pfam_domain:PF00627,SMART_domains:SM00165,Superfamily_domains:SSF46934	.	.	ENSP00000261427	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000261427	Transcript	.	.	ENSG00000078140	4914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.667)	.	deleterious(0)	.	UBE2K_HUMAN	UBE2K	HGNC	B3KSH4_HUMAN	.	UPI0000003FF1	SNV	UBE2K,missense_variant,p.Glu195Gly,ENST00000261427,;UBE2K,missense_variant,p.Glu152Gly,ENST00000445950,;UBE2K,missense_variant,p.Glu144Gly,ENST00000503368,;UBE2K,missense_variant,p.Glu134Gly,ENST00000295963,;UBE2K,downstream_gene_variant,,ENST00000510934,;UBE2K,non_coding_transcript_exon_variant,,ENST00000513231,;UBE2K,non_coding_transcript_exon_variant,,ENST00000438068,;UBE2K,3_prime_UTR_variant,,ENST00000510719,;	868	51	57	SUCCESS
FAM196B	0	.	GRCh37	5	169309963	169309963	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	76	0	ENST00000377365.3:c.940C>A	p.Gln314Lys	p.Q314K	ENST00000377365	NM_001129891.1	314	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS47336.1	940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGTGAGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15265	.	.	ENSP00000366582	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000377365	Transcript	.	.	ENSG00000204767	37271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.3)	.	F196B_HUMAN	FAM196B	HGNC	.	.	UPI0000480500	SNV	FAM196B,missense_variant,p.Gln314Lys,ENST00000377365,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000256935,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	2322	76	70	SUCCESS
LIFR	3977	.	GRCh37	5	38523562	38523562	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	323	255	557	0	ENST00000263409.4:c.520A>G	p.Ile174Val	p.I174V	ENST00000263409	NM_002310.5	174	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3927.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAATTTCCC	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91	.	.	ENSP00000263409	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000263409	Transcript	1	.	ENSG00000113594	6597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.03)	.	LIFR_HUMAN	LIFR	HGNC	D6RJ94_HUMAN,D6RF33_HUMAN	.	UPI000004CAC2	SNV	LIFR,missense_variant,p.Ile174Val,ENST00000263409,;LIFR,missense_variant,p.Ile174Val,ENST00000453190,;LIFR,downstream_gene_variant,,ENST00000506990,;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;	683	557	578	SUCCESS
SGTB	54557	.	GRCh37	5	64967741	64967741	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1362882252	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	74	162	0	ENST00000381007.4:c.803+1G>A		p.X268_splice	ENST00000381007	NM_019072.2	268		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3988.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACGCTTG	NONE	.	.	.	.	.	ENSP00000370395	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381007	Transcript	.	.	ENSG00000197860	23567	.	.	HIGH	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGTB_HUMAN	SGTB	HGNC	O75589_HUMAN,D6RFW1_HUMAN	.	UPI000004D24F	SNV	SGTB,splice_donor_variant,,ENST00000381007,;	.	162	138	SUCCESS
SMPD2	6610	.	GRCh37	6	109764480	109764480	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	91	0	ENST00000258052.3:c.740G>T	p.Gly247Val	p.G247V	ENST00000258052	NM_003080.2	247	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5075.1	740	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGTTTT	NONE	.	.	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12393	.	.	ENSP00000258052	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000258052	Transcript	.	.	ENSG00000135587	11121	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.3)	.	tolerated(0.06)	.	NSMA_HUMAN	SMPD2	HGNC	.	.	UPI000013CFAC	SNV	SMPD2,missense_variant,p.Gly247Val,ENST00000258052,;SMPD2,missense_variant,p.Gly144Val,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000440797,;PPIL6,upstream_gene_variant,,ENST00000521072,;PPIL6,upstream_gene_variant,,ENST00000424445,;PPIL6,upstream_gene_variant,,ENST00000520723,;MICAL1,downstream_gene_variant,,ENST00000358807,;PPIL6,upstream_gene_variant,,ENST00000417394,;PPIL6,upstream_gene_variant,,ENST00000518648,;MICAL1,downstream_gene_variant,,ENST00000433205,;MICAL1,downstream_gene_variant,,ENST00000358577,;MICAL1,downstream_gene_variant,,ENST00000368952,;PPIL6,upstream_gene_variant,,ENST00000447468,;MICAL1,downstream_gene_variant,,ENST00000456101,;MICAL1,downstream_gene_variant,,ENST00000465904,;SMPD2,downstream_gene_variant,,ENST00000439615,;	1099	91	76	SUCCESS
TULP4	56995	.	GRCh37	6	158922879	158922890	+	inframe_deletion	In_Frame_Del	DEL	GACAGCTGTAGG	GACAGCTGTAGG	-	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	GACAGCTGTAGG	GACAGCTGTAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	110	0	ENST00000367097.3:c.2190_2201del	p.Val731_Ala734del	p.V731_A734del	ENST00000367097	NM_020245.4	728	acGACAGCTGTAGGg/acg	0	.	.	.	.	.	-	TTAVG/T	protein_coding	YES	CCDS34561.1	2184-2195	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGACGACAGCTGTAGGGACAG	NONE	.	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2	.	.	ENSP00000356064	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000367097	Transcript	.	.	ENSG00000130338	15530	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TULP4_HUMAN	TULP4	HGNC	.	.	UPI000013CD76	deletion	TULP4,inframe_deletion,p.Val731_Ala734del,ENST00000367097,;TULP4,intron_variant,,ENST00000367094,;	3541-3552	110	100	SUCCESS
C6orf15	29113	.	GRCh37	6	31079471	31079471	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761443943	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	10	82	0	ENST00000259870.3:c.665G>A	p.Gly222Asp	p.G222D	ENST00000259870	NM_014070.2	222	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS4693.1	665	MUTECT|MUSE|VARSCANS	.	CAGGGCCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15817,hmmpanther:PTHR15817:SF2	.	.	ENSP00000259870	.	2/2	.	.	.	.	.	.	.	.	rs761443943	2/2	PASS	ENST00000259870	Transcript	.	.	ENSG00000204542	13927	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	.	deleterious(0.03)	.	CF015_HUMAN	C6orf15	HGNC	M1T2K5_HUMAN	.	UPI000000D748	SNV	C6orf15,missense_variant,p.Gly222Asp,ENST00000259870,;CDSN,downstream_gene_variant,,ENST00000376288,;PSORS1C1,upstream_gene_variant,,ENST00000259881,;PSORS1C1,upstream_gene_variant,,ENST00000467107,;PSORS1C1,upstream_gene_variant,,ENST00000479581,;PSORS1C1,upstream_gene_variant,,ENST00000493289,;PSORS1C1,upstream_gene_variant,,ENST00000548049,;PSORS1C1,upstream_gene_variant,,ENST00000552747,;PSORS1C1,upstream_gene_variant,,ENST00000550838,;	669	82	92	SUCCESS
TCP11	6954	.	GRCh37	6	35088734	35088734	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	92	195	0	ENST00000512012.1:c.667A>G	p.Ile223Val	p.I223V	ENST00000512012		223	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47413.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAATGGAAT	NONE	.	.	hmmpanther:PTHR12832:SF16,hmmpanther:PTHR12832,Pfam_domain:PF05794	.	.	ENSP00000308708	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000311875	Transcript	.	.	ENSG00000124678	11658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.252)	.	tolerated(0.87)	.	TCP11_HUMAN	TCP11	HGNC	D6RGY5_HUMAN,D6RGC0_HUMAN,D6RG02_HUMAN,D6R9R9_HUMAN,D6R989_HUMAN,B7Z7Q2_HUMAN	.	UPI0000EE4D7F	SNV	TCP11,missense_variant,p.Ile161Val,ENST00000244645,;TCP11,missense_variant,p.Ile82Val,ENST00000486638,;TCP11,missense_variant,p.Ile236Val,ENST00000311875,;TCP11,missense_variant,p.Ile223Val,ENST00000512012,;TCP11,missense_variant,p.Ile185Val,ENST00000412155,;TCP11,missense_variant,p.Ile31Val,ENST00000502480,;TCP11,missense_variant,p.Ile160Val,ENST00000418521,;TCP11,missense_variant,p.Ile190Val,ENST00000373974,;TCP11,missense_variant,p.Ile161Val,ENST00000373979,;TCP11,missense_variant,p.Ile231Val,ENST00000444780,;TCP11,downstream_gene_variant,,ENST00000507706,;TCP11,downstream_gene_variant,,ENST00000492680,;TCP11,downstream_gene_variant,,ENST00000505400,;TCP11,3_prime_UTR_variant,,ENST00000505911,;TCP11,3_prime_UTR_variant,,ENST00000469514,;TCP11,3_prime_UTR_variant,,ENST00000455706,;TCP11,3_prime_UTR_variant,,ENST00000504758,;TCP11,3_prime_UTR_variant,,ENST00000427376,;TCP11,downstream_gene_variant,,ENST00000509988,;TCP11,downstream_gene_variant,,ENST00000479418,;TCP11,downstream_gene_variant,,ENST00000505335,;	1124	195	227	SUCCESS
ANLN	54443	.	GRCh37	7	36461497	36461497	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766163761	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	27	245	0	ENST00000265748.2:c.2195C>T	p.Thr732Ile	p.T732I	ENST00000265748	NM_018685.2	732	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS5447.1	2195	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGACAGTGA	NONE	.	.	hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20	.	.	ENSP00000265748	.	13/24	.	.	.	.	.	.	.	.	rs766163761	13/24	PASS	ENST00000265748	Transcript	.	.	ENSG00000011426	14082	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.85)	.	deleterious(0)	.	ANLN_HUMAN	ANLN	HGNC	C9JJT6_HUMAN	.	UPI00001A95DE	SNV	ANLN,missense_variant,p.Thr695Ile,ENST00000396068,;ANLN,missense_variant,p.Thr86Ile,ENST00000446635,;ANLN,missense_variant,p.Thr732Ile,ENST00000265748,;ANLN,intron_variant,,ENST00000428612,;ANLN,upstream_gene_variant,,ENST00000457743,;ANLN,downstream_gene_variant,,ENST00000495714,;	2416	245	246	SUCCESS
TRGC2	6967	.	GRCh37	7	38289007	38289007	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	102	0	ENST00000436911.2:c.168A>G	p.Gly56=	p.G56=	ENST00000436911		56	ggA/ggG	0	.	.	.	.	.	C	G	TR_C_gene	YES	.	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGATCCCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19256,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000413437	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000436911	Transcript	.	.	ENSG00000227191	12276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TRGC2	HGNC	.	.	UPI0000F30369	SNV	TRGC2,synonymous_variant,p.%3D,ENST00000436911,;TRGJ2,downstream_gene_variant,,ENST00000390333,;	167	102	100	SUCCESS
MLXIPL	51085	.	GRCh37	7	73008624	73008624	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	29	0	ENST00000313375.3:c.2420C>G	p.Ser807Cys	p.S807C	ENST00000313375	NM_032953.2	807	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS5553.1	2420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGAGCAG	NONE	.	.	hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741	.	.	ENSP00000320886	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,missense_variant,p.Ser807Cys,ENST00000313375,;MLXIPL,missense_variant,p.Ser713Cys,ENST00000434326,;MLXIPL,missense_variant,p.Ser714Cys,ENST00000395189,;MLXIPL,missense_variant,p.Ser788Cys,ENST00000429400,;MLXIPL,missense_variant,p.Ser786Cys,ENST00000354613,;MLXIPL,missense_variant,p.Ser805Cys,ENST00000414749,;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,3_prime_UTR_variant,,ENST00000345114,;MLXIPL,downstream_gene_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000476404,;	2468	29	37	SUCCESS
MCM7	4176	.	GRCh37	7	99693609	99693609	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	48	0	ENST00000303887.5:c.1383C>A	p.Val461=	p.V461=	ENST00000303887	NM_001278595.1	461	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5683.1	1383	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGACCTC	NONE	.	.	PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540,Prints_domain:PR01657	.	.	ENSP00000307288	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,synonymous_variant,p.%3D,ENST00000354230,;MCM7,synonymous_variant,p.%3D,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;MCM7,downstream_gene_variant,,ENST00000425308,;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000303904,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000467516,;COPS6,downstream_gene_variant,,ENST00000474823,;MCM7,downstream_gene_variant,,ENST00000465738,;COPS6,downstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000463722,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000468499,;MCM7,downstream_gene_variant,,ENST00000465688,;COPS6,downstream_gene_variant,,ENST00000483891,;	2029	48	79	SUCCESS
VPS13B	157680	.	GRCh37	8	100832349	100832349	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	73	0	ENST00000358544.2:c.9068A>T	p.Gln3023Leu	p.Q3023L	ENST00000358544	NM_017890.4	3023	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6280.1	9068	MUTECT|MUSE	.	TTTTCAGGTAC	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	49/62	.	.	.	.	.	.	.	.	COSM248291	49/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.069)	.	deleterious(0)	1	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Gln3023Leu,ENST00000358544,;VPS13B,missense_variant,p.Gln2998Leu,ENST00000357162,;VPS13B,splice_region_variant,,ENST00000395996,;	9179	73	59	SUCCESS
ARFGEF1	10565	.	GRCh37	8	68179424	68179424	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	97	0	ENST00000262215.3:c.1714G>C	p.Asp572His	p.D572H	ENST00000262215	NM_006421.4	572	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6199.1	1714	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTCACAGT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Gene3D:1.25.10.10,Pfam_domain:PF12783,Superfamily_domains:SSF48371	.	.	ENSP00000262215	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000262215	Transcript	.	.	ENSG00000066777	15772	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.08)	.	BIG1_HUMAN	ARFGEF1	HGNC	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN	.	UPI000013D275	SNV	ARFGEF1,missense_variant,p.Asp572His,ENST00000262215,;ARFGEF1,missense_variant,p.Asp26His,ENST00000520381,;	2104	97	86	SUCCESS
ZFHX4	79776	.	GRCh37	8	77617394	77617394	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	67	0	ENST00000521891.2:c.1071T>G	p.Asp357Glu	p.D357E	ENST00000521891	NM_024721.4	357	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS47878.2	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGATCCAAC	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Asp357Glu,ENST00000518282,;ZFHX4,missense_variant,p.Asp357Glu,ENST00000455469,;ZFHX4,missense_variant,p.Asp357Glu,ENST00000050961,;ZFHX4,missense_variant,p.Asp357Glu,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	1519	67	74	SUCCESS
ZFHX4	79776	.	GRCh37	8	77763751	77763752	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AA	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	158	17	172	0	ENST00000521891.2:c.4598_4599dup	p.Phe1534AsnfsTer37	p.F1534Nfs*37	ENST00000521891	NM_024721.4	1532	gaa/gAAaa	0	.	.	.	.	.	AA	E/EX	protein_coding	YES	CCDS47878.2	4594-4595	INDELOCATOR*|VARSCANI*|PINDEL	.	CGATGGAAAAA	BUFFER|p.T1530M|c.4589C>T|3	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	insertion	ZFHX4,frameshift_variant,p.Phe1489AsnfsTer37,ENST00000455469,;ZFHX4,frameshift_variant,p.Phe1508AsnfsTer37,ENST00000518282,;ZFHX4,frameshift_variant,p.Phe1489AsnfsTer37,ENST00000050961,;ZFHX4,frameshift_variant,p.Phe1534AsnfsTer37,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	5042-5043	172	175	SUCCESS
IFNA8	3445	.	GRCh37	9	21409229	21409229	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	47	0	ENST00000380205.1:c.54A>T	p.Ser18=	p.S18=	ENST00000380205	NM_002170.3	18	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6507.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATTCAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF28	.	.	ENSP00000369553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380205	Transcript	.	.	ENSG00000120242	5429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNA8_HUMAN	IFNA8	HGNC	.	.	UPI000002C35B	SNV	IFNA8,synonymous_variant,p.%3D,ENST00000380205,;	84	47	69	SUCCESS
SPATA31A2	0	.	GRCh37	9	39887361	39887361	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	31	212	0	ENST00000456183.2:c.348G>A	p.Gln116=	p.Q116=	ENST00000456183	NM_001040065.1	116	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS43809.1	348	RADIA|MUSE|VARSCANS	.	GGTCAGCTCTC	NONE	.	.	Pfam_domain:PF15371,hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000406957	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456183	Transcript	.	.	ENSG00000204848	32002	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S31A2_HUMAN	SPATA31A2	HGNC	.	.	UPI000047039A	SNV	SPATA31A2,synonymous_variant,p.%3D,ENST00000456183,;	377	212	252	SUCCESS
RFK	55312	.	GRCh37	9	79009045	79009045	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	119	0	ENST00000376736.1:c.43G>A	p.Gly15Ser	p.G15S	ENST00000376736	NM_018339.5	15	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS35044.2	43	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCCCGCA	NONE	.	.	hmmpanther:PTHR22749,Pfam_domain:PF01687,Gene3D:2.40.30.30,SMART_domains:SM00904,Superfamily_domains:SSF82114	.	.	ENSP00000365926	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000376736	Transcript	.	.	ENSG00000135002	30324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	RIFK_HUMAN	RFK	HGNC	.	.	UPI00004A3AC2	SNV	RFK,missense_variant,p.Gly15Ser,ENST00000376736,;RFK,missense_variant,p.Gly2Ser,ENST00000490113,;RFK,non_coding_transcript_exon_variant,,ENST00000472900,;RFK,non_coding_transcript_exon_variant,,ENST00000479197,;RFK,upstream_gene_variant,,ENST00000476087,;RFK,upstream_gene_variant,,ENST00000483155,;RPSAP9,upstream_gene_variant,,ENST00000418207,;	377	119	128	SUCCESS
RGAG1	0	.	GRCh37	X	109697300	109697300	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	19	162	0	ENST00000465301.2:c.3455T>C	p.Leu1152Ser	p.L1152S	ENST00000465301	NM_020769.2	1152	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS14552.1	3455	MUTECT|MUSE|VARSCANS	.	CCTCTTAGAAG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,missense_variant,p.Leu1152Ser,ENST00000540313,;RGAG1,missense_variant,p.Leu1152Ser,ENST00000465301,;RGAG1,downstream_gene_variant,,ENST00000520821,;	3701	162	234	SUCCESS
HUWE1	10075	.	GRCh37	X	53603872	53603872	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	67	82	0	ENST00000262854.6:c.5872G>A	p.Ala1958Thr	p.A1958T	ENST00000262854	NM_031407.5	1958	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS35301.1	5872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCATGGT	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	43/83	.	.	.	.	.	.	.	.	.	43/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Ala1958Thr,ENST00000342160,;HUWE1,missense_variant,p.Ala1958Thr,ENST00000262854,;HUWE1,missense_variant,p.Ala992Thr,ENST00000427052,;	6330	82	80	SUCCESS
SEC23IP	11196	.	GRCh37	10	121677401	121677401	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs371628667	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	36	93	0	ENST00000369075.3:c.1598A>T	p.Asn533Ile	p.N533I	ENST00000369075	NM_007190.3	533	aAt/aTt	0	G:0	.	.	.	.	T	N/I	protein_coding	YES	CCDS7618.1	1598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAATGAAA	NONE	byCluster	.	hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25	.	G:0.0001	ENSP00000358071	.	9/19	.	.	.	.	.	.	.	.	rs371628667	9/19	PASS	ENST00000369075	Transcript	.	.	ENSG00000107651	17018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	S23IP_HUMAN	SEC23IP	HGNC	.	.	UPI000006FCCE	SNV	SEC23IP,missense_variant,p.Asn322Ile,ENST00000543134,;SEC23IP,missense_variant,p.Asn533Ile,ENST00000369075,;SEC23IP,downstream_gene_variant,,ENST00000446561,;SEC23IP,non_coding_transcript_exon_variant,,ENST00000462222,;	1670	93	48	SUCCESS
C10orf90	118611	.	GRCh37	10	128153427	128153427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762197645	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	57	121	0	ENST00000284694.7:c.1372G>A	p.Asp458Asn	p.D458N	ENST00000284694	NM_001004298.2	458	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31310.1	1372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATCGCTTG	NONE	byFrequency	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553	.	.	ENSP00000284694	.	4/9	.	.	.	.	.	.	.	.	rs762197645	4/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(1)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Asp458Asn,ENST00000432642,;C10orf90,missense_variant,p.Asp458Asn,ENST00000284694,;C10orf90,missense_variant,p.Asp411Asn,ENST00000356858,;C10orf90,missense_variant,p.Asp555Asn,ENST00000544758,;C10orf90,intron_variant,,ENST00000454341,;C10orf90,intron_variant,,ENST00000424927,;C10orf90,upstream_gene_variant,,ENST00000480379,;	1493	121	77	SUCCESS
RHOBTB1	9886	.	GRCh37	10	62637748	62637748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	71	123	0	ENST00000337910.5:c.1644G>T	p.Leu548Phe	p.L548F	ENST00000337910	NM_001242359.1	548	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7261.1	1644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACAACTG	NONE	.	.	PROSITE_profiles:PS50097,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000338671	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000337910	Transcript	.	.	ENSG00000072422	18738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.93)	.	RHBT1_HUMAN	RHOBTB1	HGNC	Q567T3_HUMAN	.	UPI000000D9B7	SNV	RHOBTB1,missense_variant,p.Leu548Phe,ENST00000337910,;RHOBTB1,missense_variant,p.Leu548Phe,ENST00000357917,;RHOBTB1,non_coding_transcript_exon_variant,,ENST00000483488,;RHOBTB1,upstream_gene_variant,,ENST00000490827,;	1982	123	86	SUCCESS
BTAF1	9044	.	GRCh37	10	93699785	93699785	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	75	148	0	ENST00000265990.6:c.215A>T	p.Asn72Ile	p.N72I	ENST00000265990	NM_003972.2	72	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS7419.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAATGTAC	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,missense_variant,p.Asn72Ile,ENST00000265990,;	523	148	87	SUCCESS
PPP2R1B	5519	.	GRCh37	11	111622945	111622945	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1555048181	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	55	121	0	ENST00000527614.1:c.1276G>C	p.Asp426His	p.D426H	ENST00000527614	NM_001177562.1	426	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS8348.1	1276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCTTCTG	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648:SF9,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371	.	.	ENSP00000311344	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000311129	Transcript	.	.	ENSG00000137713	9303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	2AAB_HUMAN	PPP2R1B	HGNC	.	.	UPI000006CEE0	SNV	PPP2R1B,missense_variant,p.Asp426His,ENST00000527614,;PPP2R1B,missense_variant,p.Asp299His,ENST00000393055,;PPP2R1B,missense_variant,p.Asp265His,ENST00000427203,;PPP2R1B,missense_variant,p.Asp127His,ENST00000531890,;PPP2R1B,missense_variant,p.Asp426His,ENST00000311129,;PPP2R1B,missense_variant,p.Asp381His,ENST00000341980,;PPP2R1B,missense_variant,p.Asp362His,ENST00000426998,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;PPP2R1B,upstream_gene_variant,,ENST00000529672,;	1297	121	69	SUCCESS
MUC5B	727897	.	GRCh37	11	1269606	1269606	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776734693	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	180	0	ENST00000529681.1:c.11496C>A	p.His3832Gln	p.H3832Q	ENST00000529681	NM_002458.2	3832	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS44515.2	11496	MUTECT|MUSE	.	GCCCACACCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	rs776734693	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.His3832Gln,ENST00000529681,;MUC5B,missense_variant,p.His3835Gln,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	11554	180	161	SUCCESS
CELF1	10658	.	GRCh37	11	47506044	47506044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	75	165	0	ENST00000358597.3:c.342G>T	p.Met114Ile	p.M114I	ENST00000358597		114	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS53623.1	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCATACC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24622:SF179,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000435926	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000532048	Transcript	.	.	ENSG00000149187	2549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	CELF1_HUMAN	CELF1	HGNC	F5H4Y5_HUMAN,F5H3J7_HUMAN,F5H0D8_HUMAN,E9PSH0_HUMAN,E9PQK4_HUMAN,E9PKU1_HUMAN,E9PKA1_HUMAN	.	UPI0000D9D8B2	SNV	CELF1,missense_variant,p.Met113Ile,ENST00000395290,;CELF1,missense_variant,p.Met114Ile,ENST00000310513,;CELF1,missense_variant,p.Met140Ile,ENST00000532048,;CELF1,missense_variant,p.Met114Ile,ENST00000361904,;CELF1,missense_variant,p.Met141Ile,ENST00000531165,;CELF1,missense_variant,p.Met114Ile,ENST00000395292,;CELF1,missense_variant,p.Met114Ile,ENST00000358597,;CELF1,downstream_gene_variant,,ENST00000526419,;CELF1,downstream_gene_variant,,ENST00000528538,;CELF1,downstream_gene_variant,,ENST00000525841,;CELF1,downstream_gene_variant,,ENST00000526277,;CELF1,downstream_gene_variant,,ENST00000543178,;CELF1,downstream_gene_variant,,ENST00000530151,;CELF1,downstream_gene_variant,,ENST00000528434,;CELF1,downstream_gene_variant,,ENST00000535982,;AC090559.1,downstream_gene_variant,,ENST00000578625,;CELF1,non_coding_transcript_exon_variant,,ENST00000422993,;CELF1,upstream_gene_variant,,ENST00000532146,;	1314	165	175	SUCCESS
TUT1	64852	.	GRCh37	11	62343081	62343081	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	58	0	ENST00000476907.1:c.2110G>A	p.Ala704Thr	p.A704T	ENST00000476907		704	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8021.2	2224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCCCAGT	NONE	.	.	hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF11	.	.	ENSP00000308000	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000308436	Transcript	.	.	ENSG00000149016	26184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.14)	.	.	TUT1	HGNC	F5H0R1_HUMAN,C9JBX0_HUMAN	.	UPI000199421A	SNV	TUT1,missense_variant,p.Ala704Thr,ENST00000476907,;TUT1,missense_variant,p.Ala742Thr,ENST00000308436,;TUT1,downstream_gene_variant,,ENST00000278279,;EEF1G,upstream_gene_variant,,ENST00000329251,;EEF1G,upstream_gene_variant,,ENST00000378019,;EEF1G,upstream_gene_variant,,ENST00000524420,;EEF1G,upstream_gene_variant,,ENST00000532986,;TUT1,non_coding_transcript_exon_variant,,ENST00000469480,;MIR3654,intron_variant,,ENST00000534745,;MIR3654,intron_variant,,ENST00000496634,;MIR3654,intron_variant,,ENST00000526409,;TUT1,downstream_gene_variant,,ENST00000463241,;EEF1G,upstream_gene_variant,,ENST00000525340,;	2262	58	118	SUCCESS
DCHS1	8642	.	GRCh37	11	6643315	6643315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779065285	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	40	0	ENST00000299441.3:c.9592C>T	p.Arg3198Cys	p.R3198C	ENST00000299441	NM_003737.2	3198	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS7771.1	9592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACGGGGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	rs779065285	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Arg3198Cys,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,intron_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	10004	40	27	SUCCESS
CUX2	23316	.	GRCh37	12	111471987	111471987	+	synonymous_variant	Silent	SNP	C	C	T	rs1452102872	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	43	65	0	ENST00000261726.6:c.6C>T	p.Ala2=	p.A2=	ENST00000261726	NM_015267.3	2	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS41837.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGCCAA	NONE	.	.	hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	SNV	CUX2,synonymous_variant,p.%3D,ENST00000261726,;	160	65	50	SUCCESS
SLCO1B1	10599	.	GRCh37	12	21353510	21353510	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	91	0	ENST00000256958.2:c.1039T>G	p.Leu347Val	p.L347V	ENST00000256958	NM_006446.4	347	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS8685.1	1039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTGTTACAA	BUFFER|p.T345A|c.1033A>G|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF82,Pfam_domain:PF03137,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000256958	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000256958	Transcript	.	.	ENSG00000134538	10959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	tolerated(0.08)	.	SO1B1_HUMAN	SLCO1B1	HGNC	K4P403_HUMAN	.	UPI0000043BED	SNV	SLCO1B1,missense_variant,p.Leu347Val,ENST00000256958,;	1135	91	82	SUCCESS
COL2A1	1280	.	GRCh37	12	48373812	48373812	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1399676515	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	78	159	0	ENST00000380518.3:c.2659C>T	p.Arg887Ter	p.R887*	ENST00000380518	NM_033150.2	887	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS41778.1	2659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGGGCTC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Pfam_domain:PF01391	.	.	ENSP00000369889	.	40/54	.	.	.	.	.	.	.	.	CM062564	40/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,stop_gained,p.Arg887Ter,ENST00000380518,;COL2A1,stop_gained,p.Arg818Ter,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,downstream_gene_variant,,ENST00000483376,;COL2A1,upstream_gene_variant,,ENST00000546974,;	2824	159	171	SUCCESS
KCNA6	3742	.	GRCh37	12	4920655	4920655	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	75	0	ENST00000280684.3:c.1448G>C	p.Gly483Ala	p.G483A	ENST00000280684		483	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS8534.1	1448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGGCAGC	NONE	.	.	Prints_domain:PR01513,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.43)	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,missense_variant,p.Gly483Ala,ENST00000433855,;KCNA6,missense_variant,p.Gly483Ala,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	2314	75	65	SUCCESS
SYNE2	23224	.	GRCh37	14	64686099	64686099	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	70	129	0	ENST00000344113.4:c.19762G>T	p.Glu6588Ter	p.E6588*	ENST00000344113	NM_015180.4	6588	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9761.2	19831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGAAATA	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	110/116	.	.	.	.	.	.	.	.	.	110/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,stop_gained,p.Glu6504Ter,ENST00000554584,;SYNE2,stop_gained,p.Glu2973Ter,ENST00000394768,;SYNE2,stop_gained,p.Glu6588Ter,ENST00000344113,;SYNE2,stop_gained,p.Glu6611Ter,ENST00000358025,;SYNE2,stop_gained,p.Glu371Ter,ENST00000554805,;SYNE2,stop_gained,p.Glu119Ter,ENST00000441438,;SYNE2,stop_gained,p.Glu245Ter,ENST00000458046,;SYNE2,stop_gained,p.Glu466Ter,ENST00000555022,;SYNE2,stop_gained,p.Glu2973Ter,ENST00000357395,;SYNE2,stop_gained,p.Glu3245Ter,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,3_prime_UTR_variant,,ENST00000555612,;SYNE2,3_prime_UTR_variant,,ENST00000553289,;SYNE2,non_coding_transcript_exon_variant,,ENST00000554928,;SYNE2,downstream_gene_variant,,ENST00000557307,;SYNE2,downstream_gene_variant,,ENST00000557084,;	20061	129	157	SUCCESS
HDC	3067	.	GRCh37	15	50535066	50535066	+	synonymous_variant	Silent	SNP	G	G	A	rs777288804	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	87	0	ENST00000267845.3:c.1380C>T	p.Ile460=	p.I460=	ENST00000267845	NM_002112.3	460	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10134.1	1380	MUTECT|MUSE	.	CTCAGGATGTC	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	.	.	ENSP00000267845	.	12/12	.	.	.	.	.	.	.	.	rs777288804	12/12	PASS	ENST00000267845	Transcript	.	.	ENSG00000140287	4855	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DCHS_HUMAN	HDC	HGNC	.	.	UPI0000128FB4	SNV	HDC,synonymous_variant,p.%3D,ENST00000543581,;HDC,synonymous_variant,p.%3D,ENST00000267845,;RN7SL494P,downstream_gene_variant,,ENST00000461517,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;	1783	87	90	SUCCESS
VPS13C	54832	.	GRCh37	15	62207992	62207992	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	7	119	0	ENST00000261517.5:c.8285G>A	p.Ser2762Asn	p.S2762N	ENST00000261517	NM_020821.2	2762	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS32257.1	8285	MUTECT|MUSE	.	TCCGGCTGCCA	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	61/85	.	.	.	.	.	.	.	.	.	61/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.1)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Ser2762Asn,ENST00000261517,;VPS13C,missense_variant,p.Ser2762Asn,ENST00000395896,;VPS13C,missense_variant,p.Ser2719Asn,ENST00000249837,;VPS13C,missense_variant,p.Ser2719Asn,ENST00000395898,;RN7SL613P,downstream_gene_variant,,ENST00000584412,;VPS13C,non_coding_transcript_exon_variant,,ENST00000558338,;	8359	119	99	SUCCESS
HERC1	8925	.	GRCh37	15	64067763	64067763	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	53	119	0	ENST00000443617.2:c.60G>T	p.Trp20Cys	p.W20C	ENST00000443617	NM_003922.3	20	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS45277.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATCCAGGA	NONE	.	.	.	.	.	ENSP00000390158	.	2/78	.	.	.	.	.	.	.	.	.	2/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Trp20Cys,ENST00000560316,;HERC1,missense_variant,p.Trp20Cys,ENST00000558532,;HERC1,missense_variant,p.Trp20Cys,ENST00000560462,;HERC1,missense_variant,p.Trp20Cys,ENST00000443617,;HERC1,missense_variant,p.Trp20Cys,ENST00000561400,;HERC1,non_coding_transcript_exon_variant,,ENST00000559886,;	148	119	115	SUCCESS
MYH2	4620	.	GRCh37	17	10447311	10447311	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	73	127	0	ENST00000245503.5:c.556A>C	p.Thr186Pro	p.T186P	ENST00000245503	NM_017534.5	186	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS11156.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTCTTCC	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,PROSITE_profiles:PS51456	.	.	ENSP00000245503	.	7/40	.	.	.	.	.	.	.	.	.	7/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0.01)	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,missense_variant,p.Thr107Pro,ENST00000578017,;MYH2,missense_variant,p.Thr186Pro,ENST00000245503,;MYH2,missense_variant,p.Thr186Pro,ENST00000532183,;MYH2,missense_variant,p.Thr186Pro,ENST00000397183,;MYH2,downstream_gene_variant,,ENST00000420805,;CTC-297N7.11,intron_variant,,ENST00000587182,;	941	127	90	SUCCESS
NCOR1	9611	.	GRCh37	17	16029456	16029457	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	83	154	0	ENST00000268712.3:c.1573dup	p.Thr525AsnfsTer11	p.T525Nfs*11	ENST00000268712	NM_006311.3	525	aca/aAca	0	.	.	.	.	.	T	T/NX	protein_coding	YES	CCDS11175.1	1573-1574	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTGTTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	.	.	ENSP00000268712	.	15/46	.	.	.	.	.	.	.	.	COSM1479275	15/46	PASS	ENST00000268712	Transcript	.	.	ENSG00000141027	7672	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	NCOR1_HUMAN	NCOR1	HGNC	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN	.	UPI000013D7D5	insertion	NCOR1,frameshift_variant,p.Thr535AsnfsTer11,ENST00000582357,;NCOR1,frameshift_variant,p.Thr416AsnfsTer11,ENST00000395848,;NCOR1,frameshift_variant,p.Thr534AsnfsTer?,ENST00000436828,;NCOR1,frameshift_variant,p.Thr526AsnfsTer11,ENST00000411510,;NCOR1,frameshift_variant,p.Thr525AsnfsTer11,ENST00000395851,;NCOR1,frameshift_variant,p.Thr525AsnfsTer11,ENST00000268712,;NCOR1,upstream_gene_variant,,ENST00000583226,;NCOR1,3_prime_UTR_variant,,ENST00000460276,;	1831-1832	154	195	SUCCESS
NCOR1	9611	.	GRCh37	17	16042476	16042476	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	98	239	0	ENST00000268712.3:c.1198C>T	p.Leu400Phe	p.L400F	ENST00000268712	NM_006311.3	400	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11175.1	1198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGCTGCC	NONE	.	.	hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	.	.	ENSP00000268712	.	12/46	.	.	.	.	.	.	.	.	.	12/46	PASS	ENST00000268712	Transcript	.	.	ENSG00000141027	7672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	NCOR1_HUMAN	NCOR1	HGNC	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN	.	UPI000013D7D5	SNV	NCOR1,missense_variant,p.Leu409Phe,ENST00000582357,;NCOR1,missense_variant,p.Leu291Phe,ENST00000395848,;NCOR1,missense_variant,p.Leu400Phe,ENST00000395851,;NCOR1,missense_variant,p.Leu409Phe,ENST00000436828,;NCOR1,missense_variant,p.Leu400Phe,ENST00000411510,;NCOR1,missense_variant,p.Leu400Phe,ENST00000268712,;RNU6-862P,upstream_gene_variant,,ENST00000362804,;NCOR1,3_prime_UTR_variant,,ENST00000460276,;	1456	239	129	SUCCESS
RAI1	10743	.	GRCh37	17	17700212	17700212	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	31	54	0	ENST00000353383.1:c.3950A>G	p.Lys1317Arg	p.K1317R	ENST00000353383	NM_030665.3	1317	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11188.1	3950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAAGGTGC	NONE	.	.	hmmpanther:PTHR14955:SF6,hmmpanther:PTHR14955	.	.	ENSP00000323074	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000353383	Transcript	.	.	ENSG00000108557	9834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RAI1_HUMAN	RAI1	HGNC	J3QLL5_HUMAN,A8MXE8_HUMAN	.	UPI0000200AAF	SNV	RAI1,missense_variant,p.Lys1317Arg,ENST00000353383,;RAI1,missense_variant,p.Lys1317Arg,ENST00000261641,;RAI1,upstream_gene_variant,,ENST00000583166,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,downstream_gene_variant,,ENST00000395774,;	4419	54	38	SUCCESS
STXBP4	252983	.	GRCh37	17	53121196	53121196	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	13	0	ENST00000376352.2:c.945+515del		p.*315*	ENST00000376352	NM_178509.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11584.2	.	INDELOCATOR|VARSCANI	.	GTTTGGTTTTTT	NONE	.	.	.	.	.	ENSP00000365530	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376352	Transcript	.	.	ENSG00000166263	19694	5	.	MODIFIER	11/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STXB4_HUMAN	STXBP4	HGNC	.	.	UPI000050D3EE	deletion	STXBP4,3_prime_UTR_variant,,ENST00000398391,;STXBP4,3_prime_UTR_variant,,ENST00000405898,;STXBP4,intron_variant,,ENST00000376352,;STXBP4,intron_variant,,ENST00000434978,;STXBP4,downstream_gene_variant,,ENST00000299341,;STXBP4,downstream_gene_variant,,ENST00000463234,;STXBP4,downstream_gene_variant,,ENST00000468837,;	.	13	24	SUCCESS
LOXHD1	125336	.	GRCh37	18	44229147	44229147	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	38	89	0	ENST00000441551.2:c.216G>A	p.Gly72=	p.G72=	ENST00000441551		72	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	.	.	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCCCATT	NONE	.	.	PROSITE_profiles:PS50095,Pfam_domain:PF01477,Gene3D:2.60.60.20,SMART_domains:SM00308,Superfamily_domains:SSF49723	.	.	ENSP00000387621	.	2/39	.	.	.	.	.	.	.	.	.	2/39	PASS	ENST00000441551	Transcript	.	.	ENSG00000167210	26521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LOXHD1	HGNC	J3QKX9_HUMAN,H7BZ41_HUMAN,C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI000268B46A	SNV	LOXHD1,synonymous_variant,p.%3D,ENST00000441551,;LOXHD1,synonymous_variant,p.%3D,ENST00000536736,;	216	89	69	SUCCESS
C19orf54	284325	.	GRCh37	19	41255748	41255748	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	73	0	ENST00000378313.2:c.-40C>T		p.*14*	ENST00000378313	NM_198476.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12564.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGGGGAGG	NONE	.	.	.	.	.	ENSP00000367564	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000378313	Transcript	.	.	ENSG00000188493	24758	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS054_HUMAN	C19orf54	HGNC	.	.	UPI00001B64AB	SNV	C19orf54,5_prime_UTR_variant,,ENST00000378313,;C19orf54,intron_variant,,ENST00000598729,;C19orf54,intron_variant,,ENST00000598485,;C19orf54,intron_variant,,ENST00000339153,;C19orf54,intron_variant,,ENST00000470681,;C19orf54,upstream_gene_variant,,ENST00000596940,;SNRPA,upstream_gene_variant,,ENST00000601545,;SNRPA,upstream_gene_variant,,ENST00000597353,;C19orf54,upstream_gene_variant,,ENST00000600139,;SNRPA,upstream_gene_variant,,ENST00000601393,;SNRPA,upstream_gene_variant,,ENST00000599362,;SNRPA,upstream_gene_variant,,ENST00000601253,;C19orf54,upstream_gene_variant,,ENST00000598352,;SNRPA,upstream_gene_variant,,ENST00000243563,;SNRPA,upstream_gene_variant,,ENST00000599570,;C19orf54,intron_variant,,ENST00000597507,;C19orf54,intron_variant,,ENST00000596809,;C19orf54,intron_variant,,ENST00000469741,;SNRPA,upstream_gene_variant,,ENST00000600456,;SNRPA,upstream_gene_variant,,ENST00000598923,;	81	73	63	SUCCESS
BAX	581	.	GRCh37	19	49464086	49464086	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369660551	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	30	50	0	ENST00000345358.7:c.389C>T	p.Pro130Leu	p.P130L	ENST00000345358	NM_138764.4	130	cCg/cTg	0	T:0.0002	.	.	.	.	T	P/L	protein_coding	YES	CCDS12744.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCGGAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF8,hmmpanther:PTHR11256,Gene3D:1.10.437.10,Pfam_domain:PF00452,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01862	.	T:0	ENSP00000293288	.	5/5	.	.	.	.	.	.	.	.	rs369660551	5/5	PASS	ENST00000293288	Transcript	.	.	ENSG00000087088	959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	tolerated(0.55)	.	BAX_HUMAN	BAX	HGNC	Q9UEI8_HUMAN,Q8WXU1_HUMAN,Q5ZPJ1_HUMAN,I6LPK7_HUMAN	.	UPI000000D900	SNV	BAX,missense_variant,p.Arg163Trp,ENST00000539787,;BAX,missense_variant,p.Pro130Leu,ENST00000345358,;BAX,missense_variant,p.Pro130Leu,ENST00000415969,;BAX,missense_variant,p.Pro81Leu,ENST00000354470,;BAX,missense_variant,p.Pro130Leu,ENST00000293288,;BAX,missense_variant,p.Pro64Leu,ENST00000506183,;BAX,3_prime_UTR_variant,,ENST00000391871,;FTL,upstream_gene_variant,,ENST00000331825,;CTD-2639E6.9,upstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,upstream_gene_variant,,ENST00000594305,;BAX,missense_variant,p.Arg163Trp,ENST00000356483,;BAX,non_coding_transcript_exon_variant,,ENST00000513545,;BAX,non_coding_transcript_exon_variant,,ENST00000502487,;BAX,non_coding_transcript_exon_variant,,ENST00000503726,;BAX,non_coding_transcript_exon_variant,,ENST00000513217,;BAX,downstream_gene_variant,,ENST00000515540,;	389	51	56	SUCCESS
ZNF175	7728	.	GRCh37	19	52090771	52090771	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	59	113	0	ENST00000262259.2:c.1187G>T	p.Cys396Phe	p.C396F	ENST00000262259	NM_007147.2	396	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS12837.1	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGTGGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF37,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000262259	.	5/5	.	.	.	.	.	.	.	.	COSM248503	5/5	PASS	ENST00000262259	Transcript	.	.	ENSG00000105497	12964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	ZN175_HUMAN	ZNF175	HGNC	.	.	UPI000013C30A	SNV	ZNF175,missense_variant,p.Cys396Phe,ENST00000262259,;ZNF175,intron_variant,,ENST00000436511,;AC018755.1,downstream_gene_variant,,ENST00000301439,;ZNF175,downstream_gene_variant,,ENST00000600460,;	1545	113	124	SUCCESS
CEP350	9857	.	GRCh37	1	180023062	180023063	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	229	60	168	0	ENST00000367607.3:c.5174dup	p.His1726ThrfsTer9	p.H1726Tfs*9	ENST00000367607	NM_014810.4	1723	caa/cAaa	0	.	.	.	.	.	A	Q/QX	protein_coding	YES	CCDS1336.1	5167-5168	INDELOCATOR|VARSCANI	.	AGCATCAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13958	.	.	ENSP00000356579	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	insertion	CEP350,frameshift_variant,p.His1726ThrfsTer9,ENST00000367607,;CEP350,downstream_gene_variant,,ENST00000418229,;	5585-5586	168	289	SUCCESS
RGSL1	353299	.	GRCh37	1	182499495	182499495	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	32	56	0	ENST00000294854.8:c.2242T>G	p.Trp748Gly	p.W748G	ENST00000294854	NM_001137669.1	748	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS58049.1	2242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTGGTGA	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845,Pfam_domain:PF00615,Superfamily_domains:SSF48097	.	.	ENSP00000457748	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,missense_variant,p.Trp748Gly,ENST00000294854,;RGSL1,missense_variant,p.Trp783Gly,ENST00000542961,;RGSL1,splice_region_variant,,ENST00000456971,;RGSL1,missense_variant,p.Trp783Gly,ENST00000443996,;RGSL1,splice_region_variant,,ENST00000415960,;RGSL1,splice_region_variant,,ENST00000436031,;	2262	56	142	SUCCESS
EIF2D	1939	.	GRCh37	1	206775799	206775799	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	46	0	ENST00000271764.2:c.793G>T	p.Asp265Tyr	p.D265Y	ENST00000271764	NM_006893.2	265	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS1465.1	793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCCATTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12217:SF4,hmmpanther:PTHR12217	.	.	ENSP00000271764	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000271764	Transcript	.	.	ENSG00000143486	6583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EIF2D_HUMAN	EIF2D	HGNC	.	.	UPI00000710E1	SNV	EIF2D,missense_variant,p.Asp265Tyr,ENST00000271764,;EIF2D,missense_variant,p.Asp237Tyr,ENST00000437518,;EIF2D,intron_variant,,ENST00000367114,;EIF2D,non_coding_transcript_exon_variant,,ENST00000484492,;EIF2D,upstream_gene_variant,,ENST00000468891,;EIF2D,downstream_gene_variant,,ENST00000461334,;	1002	46	91	SUCCESS
LAMB3	3914	.	GRCh37	1	209799342	209799342	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765797641	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	42	96	0	ENST00000356082.4:c.1627G>T	p.Gly543Cys	p.G543C	ENST00000356082	NM_000228.2	543	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS1487.1	1627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCCTCTG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196,Prints_domain:PR00011	.	.	ENSP00000375778	.	13/22	.	.	.	.	.	.	.	.	rs765797641	13/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.02)	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,missense_variant,p.Gly543Cys,ENST00000356082,;LAMB3,missense_variant,p.Gly543Cys,ENST00000391911,;LAMB3,missense_variant,p.Gly543Cys,ENST00000367030,;MIR4260,upstream_gene_variant,,ENST00000583107,;	2017	96	175	SUCCESS
TTC13	79573	.	GRCh37	1	231044767	231044767	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs769986902	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	10	73	0	ENST00000366661.4:c.2310-1G>A		p.X770_splice	ENST00000366661	NM_024525.4	770		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1588.1	.	MUTECT|MUSE	.	TTACACTATTT	NONE	.	.	.	.	.	ENSP00000355621	.	.	.	.	.	.	.	.	.	.	rs769986902	.	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	HIGH	20/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	SNV	TTC13,splice_acceptor_variant,,ENST00000366661,;TTC13,splice_acceptor_variant,,ENST00000366662,;TTC13,splice_acceptor_variant,,ENST00000414259,;TTC13,downstream_gene_variant,,ENST00000471302,;	.	73	142	SUCCESS
KIAA0754	23499	.	GRCh37	1	39879410	39879410	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1158641177	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	91	0	ENST00000530275.1:c.3065C>T	p.Ser1022Phe	p.S1022F	ENST00000530275	NM_015038.1	1022	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	.	3065	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCCGCAG	NONE	.	.	.	.	.	ENSP00000431179	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530275	Transcript	.	.	ENSG00000255103	29111	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.683)	.	.	.	K0754_HUMAN	KIAA0754	HGNC	.	.	UPI0000DD78B2	SNV	KIAA0754,missense_variant,p.Ser1022Phe,ENST00000530275,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;MACF1,upstream_gene_variant,,ENST00000482035,;	3260	91	40	SUCCESS
ZYG11A	440590	.	GRCh37	1	53352671	53352671	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1410099895	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	44	0	ENST00000371528.1:c.2050C>T	p.Pro684Ser	p.P684S	ENST00000371528	NM_001004339.2	684	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44148.1	2050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACCAGAG	NONE	.	.	hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF20,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000360583	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000371528	Transcript	.	.	ENSG00000203995	32058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	tolerated(0.16)	.	ZY11A_HUMAN	ZYG11A	HGNC	.	.	UPI000066D8BB	SNV	ZYG11A,missense_variant,p.Pro684Ser,ENST00000371528,;ZYG11A,missense_variant,p.Pro342Ser,ENST00000371532,;	2198	44	20	SUCCESS
ALG6	29929	.	GRCh37	1	63836604	63836604	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	74	0	ENST00000371108.4:c.-45G>T		p.*15*	ENST00000371108	NM_013339.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30735.1	.	MUTECT|MUSE	.	ACTCTGGCACT	NONE	.	.	.	.	.	ENSP00000360149	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000371108	Transcript	.	.	ENSG00000088035	23157	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALG6_HUMAN	ALG6	HGNC	.	.	UPI00001E057D	SNV	ALG6,5_prime_UTR_variant,,ENST00000263440,;ALG6,5_prime_UTR_variant,,ENST00000371108,;ALG6,5_prime_UTR_variant,,ENST00000603108,;ALG6,5_prime_UTR_variant,,ENST00000487136,;	261	74	44	SUCCESS
ESPN	83715	.	GRCh37	1	6500469	6500469	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	50	0	ENST00000377828.1:c.644A>G	p.Gln215Arg	p.Q215R	ENST00000377828	NM_031475.2	215	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS70.1	644	RADIA|MUSE	.	GGCGCAGATGG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF14,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000367059	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000377828	Transcript	.	.	ENSG00000187017	13281	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.07)	.	ESPN_HUMAN	ESPN	HGNC	.	.	UPI000013D2B6	SNV	ESPN,missense_variant,p.Gln215Arg,ENST00000377828,;ESPN,missense_variant,p.Gln11Arg,ENST00000418286,;RP1-202O8.2,downstream_gene_variant,,ENST00000419034,;	812	50	29	SUCCESS
POFUT1	23509	.	GRCh37	20	30803116	30803116	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	84	0	ENST00000375749.3:c.291G>A	p.Gln97=	p.Q97=	ENST00000375749	NM_015352.1	97	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS13198.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGGCTTA	NONE	.	.	Pfam_domain:PF10250,hmmpanther:PTHR21420:SF3,hmmpanther:PTHR21420	.	.	ENSP00000364902	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000375749	Transcript	1	.	ENSG00000101346	14988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OFUT1_HUMAN	POFUT1	HGNC	B4DUV4_HUMAN	.	UPI0000130C42	SNV	POFUT1,synonymous_variant,p.%3D,ENST00000375730,;POFUT1,synonymous_variant,p.%3D,ENST00000375749,;POFUT1,intron_variant,,ENST00000539210,;POFUT1,non_coding_transcript_exon_variant,,ENST00000486717,;POFUT1,upstream_gene_variant,,ENST00000465791,;	353	84	88	SUCCESS
SIM2	6493	.	GRCh37	21	38098520	38098520	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	16	31	0	ENST00000290399.6:c.644A>G	p.Gln215Arg	p.Q215R	ENST00000290399	NM_005069.3	215	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13646.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCAGTCGC	NONE	.	.	hmmpanther:PTHR23043:SF19,hmmpanther:PTHR23043	.	.	ENSP00000290399	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	deleterious(0.01)	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,missense_variant,p.Gln153Arg,ENST00000431229,;SIM2,missense_variant,p.Gln215Arg,ENST00000430056,;SIM2,missense_variant,p.Gln215Arg,ENST00000290399,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	1257	31	22	SUCCESS
MX2	4600	.	GRCh37	21	42770888	42770888	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368866145	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	77	0	ENST00000330714.3:c.1214G>A	p.Arg405Gln	p.R405Q	ENST00000330714	NM_002463.1	405	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13672.1	1214	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGCGTT	NONE	byFrequency|byCluster	.	Pfam_domain:PF01031,hmmpanther:PTHR11566:SF46,hmmpanther:PTHR11566	.	A:0	ENSP00000333657	.	9/14	.	.	.	.	.	.	.	.	rs368866145	9/14	PASS	ENST00000330714	Transcript	.	.	ENSG00000183486	7533	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.127)	.	tolerated(1)	.	MX2_HUMAN	MX2	HGNC	Q75MY8_HUMAN,Q75MY7_HUMAN,C9JZQ9_HUMAN,C9JS04_HUMAN,C9JEL4_HUMAN	.	UPI0000001C2D	SNV	MX2,missense_variant,p.Arg405Gln,ENST00000330714,;MX2,downstream_gene_variant,,ENST00000543692,;MX2,non_coding_transcript_exon_variant,,ENST00000496774,;MX2,upstream_gene_variant,,ENST00000481838,;MX2,non_coding_transcript_exon_variant,,ENST00000493753,;MX2,non_coding_transcript_exon_variant,,ENST00000482953,;MX2,upstream_gene_variant,,ENST00000474368,;MX2,upstream_gene_variant,,ENST00000398632,;	1398	77	49	SUCCESS
RASL10A	10633	.	GRCh37	22	29709746	29709746	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	13	0	ENST00000216101.6:c.344+106G>A		p.*115*	ENST00000216101	NM_006477.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13854.1	.	MUTECT|MUSE	.	GAAGGCCTAAG	NONE	.	.	.	.	.	ENSP00000216101	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216101	Transcript	.	.	ENSG00000100276	16954	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSLAA_HUMAN	RASL10A	HGNC	.	.	UPI00001348FD	SNV	RASL10A,3_prime_UTR_variant,,ENST00000401450,;RASL10A,intron_variant,,ENST00000216101,;GAS2L1,downstream_gene_variant,,ENST00000341313,;GAS2L1,downstream_gene_variant,,ENST00000403764,;GAS2L1,downstream_gene_variant,,ENST00000407854,;GAS2L1,downstream_gene_variant,,ENST00000471961,;GAS2L1,downstream_gene_variant,,ENST00000360113,;GAS2L1,downstream_gene_variant,,ENST00000407647,;GAS2L1,downstream_gene_variant,,ENST00000406549,;AC002059.10,downstream_gene_variant,,ENST00000608014,;RASL10A,non_coding_transcript_exon_variant,,ENST00000474590,;RASL10A,intron_variant,,ENST00000608559,;GAS2L1,downstream_gene_variant,,ENST00000491016,;	.	13	18	SUCCESS
GCC2	9648	.	GRCh37	2	109088333	109088333	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	165	386	0	ENST00000309863.6:c.2548A>T	p.Ile850Leu	p.I850L	ENST00000309863	NM_181453.3	850	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS33268.1	2548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAATACAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23	.	.	ENSP00000307939	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000309863	Transcript	.	.	ENSG00000135968	23218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.1)	.	GCC2_HUMAN	GCC2	HGNC	B8ZZW2_HUMAN,B3KR21_HUMAN	.	UPI000049DF0C	SNV	GCC2,missense_variant,p.Ile12Leu,ENST00000492785,;GCC2,missense_variant,p.Ile850Leu,ENST00000309863,;GCC2,missense_variant,p.Ile813Leu,ENST00000409896,;GCC2,missense_variant,p.Ile22Leu,ENST00000462897,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000447558,;	3262	386	374	SUCCESS
PXDN	7837	.	GRCh37	2	1647159	1647159	+	synonymous_variant	Silent	SNP	C	C	T	rs1233812644	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	51	0	ENST00000252804.4:c.3933G>A	p.Val1311=	p.V1311=	ENST00000252804	NM_012293.1	1311	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46221.1	3933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACACCCG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Superfamily_domains:SSF48113	.	.	ENSP00000252804	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,synonymous_variant,p.%3D,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000477093,;PXDN,synonymous_variant,p.%3D,ENST00000453308,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;	3984	51	54	SUCCESS
TTN	7273	.	GRCh37	2	179426149	179426149	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	59	0	ENST00000591111.1:c.79787T>C	p.Ile26596Thr	p.I26596T	ENST00000591111		26596	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS59435.1	84710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAATTCCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ile19297Thr,ENST00000359218,;TTN,missense_variant,p.Ile26596Thr,ENST00000591111,;TTN,missense_variant,p.Ile28237Thr,ENST00000589042,;TTN,missense_variant,p.Ile19364Thr,ENST00000342175,;TTN,missense_variant,p.Ile25669Thr,ENST00000342992,;TTN,missense_variant,p.Ile19172Thr,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	84935	59	76	SUCCESS
SPATS2L	26010	.	GRCh37	2	201337678	201337678	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760101340	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	112	0	ENST00000358677.5:c.1184A>G	p.Asn395Ser	p.N395S	ENST00000358677	NM_015535.2	395	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46483.1	1184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAATAAGC	NONE	byFrequency	.	hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623	.	.	ENSP00000351503	.	12/13	.	.	.	.	.	.	.	.	rs760101340,COSM1614120,COSM1614118,COSM1614119	12/13	PASS	ENST00000358677	Transcript	.	.	ENSG00000196141	24574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0)	.	tolerated(0.76)	0,1,1,1	SPS2L_HUMAN	SPATS2L	HGNC	F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN	.	UPI0000D48A8E	SNV	SPATS2L,missense_variant,p.Asn425Ser,ENST00000409755,;SPATS2L,missense_variant,p.Asn395Ser,ENST00000451764,;SPATS2L,missense_variant,p.Asn326Ser,ENST00000360760,;SPATS2L,missense_variant,p.Asn395Ser,ENST00000358677,;SPATS2L,missense_variant,p.Asn395Ser,ENST00000409718,;SPATS2L,missense_variant,p.Asn395Ser,ENST00000409988,;SPATS2L,missense_variant,p.Asn395Ser,ENST00000409140,;SPATS2L,missense_variant,p.Asn335Ser,ENST00000409385,;SPATS2L,missense_variant,p.Asn403Ser,ENST00000409151,;SPATS2L,downstream_gene_variant,,ENST00000409397,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000468832,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000460095,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000462190,;	1431	112	109	SUCCESS
ZDBF2	57683	.	GRCh37	2	207172127	207172127	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	96	0	ENST00000374423.3:c.2875G>A	p.Asp959Asn	p.D959N	ENST00000374423	NM_020923.1	959	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS46501.1	2875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGGATTCT	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	tolerated(0.31)	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Asp959Asn,ENST00000374423,;	3261	96	129	SUCCESS
AFTPH	54812	.	GRCh37	2	64779985	64779985	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	104	0	ENST00000238855.7:c.1377C>G	p.Ala459=	p.A459=	ENST00000238855	NM_203437.3	459	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS46303.1	1377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCCACTTT	NONE	.	.	hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156	.	.	ENSP00000238855	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000238855	Transcript	.	.	ENSG00000119844	25951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFTIN_HUMAN	AFTPH	HGNC	.	.	UPI00003E1F8E	SNV	AFTPH,synonymous_variant,p.%3D,ENST00000422803,;AFTPH,synonymous_variant,p.%3D,ENST00000409183,;AFTPH,synonymous_variant,p.%3D,ENST00000409933,;AFTPH,synonymous_variant,p.%3D,ENST00000238855,;AFTPH,synonymous_variant,p.%3D,ENST00000238856,;AFTPH,upstream_gene_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;	1691	104	93	SUCCESS
TEX37	200523	.	GRCh37	2	88828588	88828588	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs753124892	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	125	277	0	ENST00000303254.3:c.139C>T	p.Gln47Ter	p.Q47*	ENST00000303254	NM_152670.2	47	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS2003.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTCAACTC	NONE	.	.	Pfam_domain:PF15217	.	.	ENSP00000307142	.	4/4	.	.	.	.	.	.	.	.	rs753124892	4/4	PASS	ENST00000303254	Transcript	.	.	ENSG00000172073	26341	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX37_HUMAN	TEX37	HGNC	.	.	UPI0000072E9C	SNV	TEX37,stop_gained,p.Gln47Ter,ENST00000303254,;	281	277	256	SUCCESS
ABTB1	80325	.	GRCh37	3	127398864	127398864	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376513209	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	40	0	ENST00000232744.8:c.1066G>A	p.Ala356Thr	p.A356T	ENST00000232744		356	Gcc/Acc	0	A:0.0002	.	.	.	.	A	A/T	protein_coding	YES	CCDS3045.1	1066	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTCGCCGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24413:SF83,hmmpanther:PTHR24413,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	A:0.0001	ENSP00000232744	.	11/12	.	.	.	.	.	.	.	.	rs376513209	11/12	PASS	ENST00000232744	Transcript	.	.	ENSG00000114626	18275	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ABTB1_HUMAN	ABTB1	HGNC	.	.	UPI0000035DA3	SNV	ABTB1,missense_variant,p.Ala356Thr,ENST00000232744,;ABTB1,missense_variant,p.Ala214Thr,ENST00000393363,;ABTB1,missense_variant,p.Ala214Thr,ENST00000453791,;ABTB1,missense_variant,p.Ala214Thr,ENST00000468137,;ABTB1,non_coding_transcript_exon_variant,,ENST00000491633,;ABTB1,downstream_gene_variant,,ENST00000467179,;ABTB1,3_prime_UTR_variant,,ENST00000475042,;ABTB1,3_prime_UTR_variant,,ENST00000497162,;ABTB1,non_coding_transcript_exon_variant,,ENST00000464431,;ABTB1,non_coding_transcript_exon_variant,,ENST00000478298,;ABTB1,non_coding_transcript_exon_variant,,ENST00000474129,;ABTB1,downstream_gene_variant,,ENST00000479280,;ABTB1,downstream_gene_variant,,ENST00000483857,;ABTB1,downstream_gene_variant,,ENST00000475265,;ABTB1,downstream_gene_variant,,ENST00000493365,;	1152	40	47	SUCCESS
GHSR	2693	.	GRCh37	3	172166062	172166062	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	905	26	965	2	ENST00000241256.2:c.142G>A	p.Ala48Thr	p.A48T	ENST00000241256	NM_198407.2	48	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3218.1	142	MUTECT|MUSE	.	GGTGGCTGTGA	NONE	.	.	Prints_domain:PR01417,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24243:SF7,hmmpanther:PTHR24243,Transmembrane_helices:TMhelix	.	.	ENSP00000241256	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000241256	Transcript	.	.	ENSG00000121853	4267	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.2)	.	GHSR_HUMAN	GHSR	HGNC	A2T3X1_HUMAN	.	UPI000003C2FA	SNV	GHSR,missense_variant,p.Ala48Thr,ENST00000241256,;GHSR,missense_variant,p.Ala48Thr,ENST00000427970,;	185	968	932	SUCCESS
EIF2B5	8893	.	GRCh37	3	183854557	183854557	+	intron_variant	Intron	SNP	G	G	A	rs374876865	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	83	0	ENST00000273783.3:c.320+33G>A		p.*107*	ENST00000273783	NM_003907.2			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS3252.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGCCATC	NONE	byFrequency|byCluster	.	.	.	A:0.0013	ENSP00000273783	.	.	.	.	.	.	.	.	.	.	rs374876865	.	common_in_exac	ENST00000273783	Transcript	.	.	ENSG00000145191	3261	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BE_HUMAN	EIF2B5	HGNC	C9JRD9_HUMAN	.	UPI000013D9CF	SNV	EIF2B5,3_prime_UTR_variant,,ENST00000432569,;EIF2B5,intron_variant,,ENST00000273783,;EIF2B5,intron_variant,,ENST00000444495,;RP11-778D9.13,upstream_gene_variant,,ENST00000609288,;RP11-778D9.12,upstream_gene_variant,,ENST00000608232,;RP11-778D9.12,upstream_gene_variant,,ENST00000608135,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000471832,;EIF2B5,intron_variant,,ENST00000498831,;EIF2B5,upstream_gene_variant,,ENST00000492773,;EIF2B5,upstream_gene_variant,,ENST00000479833,;EIF2B5,intron_variant,,ENST00000432982,;EIF2B5,intron_variant,,ENST00000481054,;EIF2B5,intron_variant,,ENST00000491144,;EIF2B5,upstream_gene_variant,,ENST00000491008,;EIF2B5,upstream_gene_variant,,ENST00000493740,;EIF2B5,upstream_gene_variant,,ENST00000468748,;	.	83	71	SUCCESS
EIF4A2	1974	.	GRCh37	3	186501377	186501377	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs753103190	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	92	0	ENST00000323963.5:c.-23G>A		p.*8*	ENST00000323963				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGGGCGCT	NONE	.	.	.	.	.	ENSP00000326381	.	1/11	.	.	.	.	.	.	.	.	rs753103190	1/11	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,5_prime_UTR_variant,,ENST00000445596,;EIF4A2,5_prime_UTR_variant,,ENST00000323963,;EIF4A2,5_prime_UTR_variant,,ENST00000441007,;EIF4A2,5_prime_UTR_variant,,ENST00000440191,;EIF4A2,upstream_gene_variant,,ENST00000356531,;EIF4A2,upstream_gene_variant,,ENST00000498746,;SNORA81,upstream_gene_variant,,ENST00000408493,;SNORA63,upstream_gene_variant,,ENST00000363548,;SNORD2,upstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;RP11-573D15.9,non_coding_transcript_exon_variant,,ENST00000577781,;EIF4A2,5_prime_UTR_variant,,ENST00000426808,;EIF4A2,5_prime_UTR_variant,,ENST00000429589,;EIF4A2,5_prime_UTR_variant,,ENST00000425053,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465032,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465222,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000491473,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000495049,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465267,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000486805,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,upstream_gene_variant,,ENST00000497177,;EIF4A2,upstream_gene_variant,,ENST00000475409,;EIF4A2,upstream_gene_variant,,ENST00000475653,;EIF4A2,upstream_gene_variant,,ENST00000443963,;EIF4A2,upstream_gene_variant,,ENST00000468362,;EIF4A2,upstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,upstream_gene_variant,,ENST00000465792,;EIF4A2,upstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000492144,;EIF4A2,upstream_gene_variant,,ENST00000461021,;EIF4A2,upstream_gene_variant,,ENST00000494445,;	42	92	102	SUCCESS
MUC4	4585	.	GRCh37	3	195512929	195512929	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	305	54	407	0	ENST00000463781.3:c.5522T>A	p.Leu1841His	p.L1841H	ENST00000463781	NM_018406.6	1841	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS54700.1	5522	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAGAGAG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.33)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Leu1841His,ENST00000475231,;MUC4,missense_variant,p.Leu1841His,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Leu1841His,ENST00000477086,;MUC4,missense_variant,p.Leu1841His,ENST00000466475,;MUC4,missense_variant,p.Leu1841His,ENST00000478156,;MUC4,missense_variant,p.Leu1841His,ENST00000470451,;MUC4,missense_variant,p.Leu1841His,ENST00000479406,;MUC4,missense_variant,p.Leu1841His,ENST00000477756,;MUC4,missense_variant,p.Leu1841His,ENST00000462323,;MUC4,missense_variant,p.Leu1841His,ENST00000480843,;	5982	407	359	SUCCESS
MUC4	4585	.	GRCh37	3	195513665	195513665	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs776638001	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	31	181	0	ENST00000463781.3:c.4786G>C	p.Gly1596Arg	p.G1596R	ENST00000463781	NM_018406.6	1596	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS54700.1	4786	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACCTTTGG	NONE	byFrequency	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	rs776638001	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Gly1596Arg,ENST00000475231,;MUC4,missense_variant,p.Gly1596Arg,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Gly1596Arg,ENST00000477086,;MUC4,missense_variant,p.Gly1596Arg,ENST00000466475,;MUC4,missense_variant,p.Gly1596Arg,ENST00000478156,;MUC4,missense_variant,p.Gly1596Arg,ENST00000470451,;MUC4,missense_variant,p.Gly1596Arg,ENST00000479406,;MUC4,missense_variant,p.Gly1596Arg,ENST00000477756,;MUC4,missense_variant,p.Gly1596Arg,ENST00000462323,;MUC4,missense_variant,p.Gly1596Arg,ENST00000480843,;	5246	181	184	SUCCESS
PBRM1	55193	.	GRCh37	3	52668670	52668671	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	72	51	134	0	ENST00000394830.3:c.1248dup	p.Tyr417IlefsTer3	p.Y417Ifs*3	ENST00000394830	NM_018313.4	416	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS43099.1	1248-1249	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGTATTTTT	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR16062,PROSITE_patterns:PS00633,Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000378307	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000394830	Transcript	.	.	ENSG00000163939	30064	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	insertion	PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000394830,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000409057,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000423351,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000410007,;PBRM1,frameshift_variant,p.Tyr385IlefsTer3,ENST00000356770,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000296302,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000409767,;PBRM1,frameshift_variant,p.Tyr361IlefsTer3,ENST00000446103,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000337303,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000409114,;PBRM1,frameshift_variant,p.Tyr417IlefsTer3,ENST00000412587,;	1348-1349	134	123	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140389296	140389296	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs575518914	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	83	198	0	ENST00000253807.2:c.2666C>T	p.Pro889Leu	p.P889L	ENST00000253807	NM_018898.3	889	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4241.1	2666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCCAAAC	NONE	byCluster	.	.	.	.	ENSP00000253807	.	4/4	.	.	.	.	.	.	.	.	rs575518914	4/4	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.03)	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,missense_variant,p.Pro889Leu,ENST00000253807,;PCDHA1,missense_variant,p.Pro876Leu,ENST00000504120,;PCDHA5,missense_variant,p.Pro862Leu,ENST00000529619,;PCDHA2,missense_variant,p.Pro874Leu,ENST00000526136,;PCDHA4,missense_variant,p.Pro873Leu,ENST00000512229,;PCDHA10,missense_variant,p.Pro611Leu,ENST00000506939,;PCDHA8,missense_variant,p.Pro876Leu,ENST00000531613,;PCDHA6,missense_variant,p.Pro876Leu,ENST00000529310,;PCDHA5,missense_variant,p.Pro862Leu,ENST00000529859,;PCDHA11,missense_variant,p.Pro875Leu,ENST00000398640,;PCDHA4,missense_variant,p.Pro873Leu,ENST00000530339,;PCDHAC2,missense_variant,p.Pro933Leu,ENST00000289269,;PCDHA12,missense_variant,p.Pro867Leu,ENST00000398631,;PCDHA13,missense_variant,p.Pro876Leu,ENST00000289272,;PCDHA1,missense_variant,p.Pro612Leu,ENST00000394633,;PCDHA3,missense_variant,p.Pro876Leu,ENST00000522353,;PCDHA6,missense_variant,p.Pro612Leu,ENST00000527624,;PCDHA7,missense_variant,p.Pro863Leu,ENST00000525929,;PCDHA10,missense_variant,p.Pro874Leu,ENST00000307360,;PCDHA9,missense_variant,p.Pro876Leu,ENST00000532602,;PCDHA13,missense_variant,p.Pro876Leu,ENST00000409494,;	2666	198	182	SUCCESS
GIGYF1	64599	.	GRCh37	7	100279816	100279816	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1469202420	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	23	0	ENST00000275732.5:c.2804A>G	p.Tyr935Cys	p.Y935C	ENST00000275732	NM_022574.4	935	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34708.1	2804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATAGGGG	NONE	.	.	hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37	.	.	ENSP00000275732	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000275732	Transcript	.	.	ENSG00000146830	9126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PERQ1_HUMAN	GIGYF1	HGNC	.	.	UPI00001BD8AD	SNV	GIGYF1,missense_variant,p.Tyr935Cys,ENST00000275732,;GNB2,downstream_gene_variant,,ENST00000393926,;GNB2,downstream_gene_variant,,ENST00000451587,;GNB2,downstream_gene_variant,,ENST00000424361,;GNB2,downstream_gene_variant,,ENST00000419828,;GNB2,downstream_gene_variant,,ENST00000427895,;GNB2,downstream_gene_variant,,ENST00000431068,;GNB2,downstream_gene_variant,,ENST00000303210,;GNB2,downstream_gene_variant,,ENST00000412215,;GNB2,downstream_gene_variant,,ENST00000393924,;GNB2,downstream_gene_variant,,ENST00000436220,;GIGYF1,downstream_gene_variant,,ENST00000471340,;GNB2,downstream_gene_variant,,ENST00000480159,;GNB2,downstream_gene_variant,,ENST00000469287,;GIGYF1,downstream_gene_variant,,ENST00000472105,;GNB2,downstream_gene_variant,,ENST00000470354,;GIGYF1,downstream_gene_variant,,ENST00000464111,;	4014	23	23	SUCCESS
ZNF853	54753	.	GRCh37	7	6661653	6661653	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1303488580	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	23	0	ENST00000457543.3:c.1031G>A	p.Arg344Gln	p.R344Q	ENST00000457543	NM_017560.1	344	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS59048.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24409	.	.	ENSP00000455585	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000457543	Transcript	.	.	ENSG00000236609	21767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	ZN853_HUMAN	ZNF853	HGNC	.	.	UPI00018E24EF	SNV	ZNF853,missense_variant,p.Arg344Gln,ENST00000457543,;	1589	23	28	SUCCESS
PLEC	5339	.	GRCh37	8	145003368	145003368	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1554710424	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	66	0	ENST00000322810.4:c.3574G>C	p.Glu1192Gln	p.E1192Q	ENST00000322810	NM_201380.2	1192	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS43772.1	3574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCTGGTA	NONE	.	.	SMART_domains:SM00150,hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	.	.	ENSP00000323856	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Glu1192Gln,ENST00000322810,;PLEC,missense_variant,p.Glu1078Gln,ENST00000527096,;PLEC,missense_variant,p.Glu1055Gln,ENST00000345136,;PLEC,missense_variant,p.Glu1059Gln,ENST00000357649,;PLEC,missense_variant,p.Glu1023Gln,ENST00000398774,;PLEC,missense_variant,p.Glu1055Gln,ENST00000354589,;PLEC,missense_variant,p.Glu1041Gln,ENST00000356346,;PLEC,missense_variant,p.Glu1082Gln,ENST00000436759,;PLEC,missense_variant,p.Glu1033Gln,ENST00000354958,;PLEC,upstream_gene_variant,,ENST00000527303,;PLEC,downstream_gene_variant,,ENST00000528025,;	3744	66	63	SUCCESS
STMN4	81551	.	GRCh37	8	27094373	27094373	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	58	0	ENST00000265770.7:c.560C>A	p.Ala187Asp	p.A187D	ENST00000265770	NM_001283054.1	187	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS6055.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGCCTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51663,hmmpanther:PTHR10104:SF6,hmmpanther:PTHR10104,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285	.	.	ENSP00000342538	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000350889	Transcript	.	.	ENSG00000015592	16078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.25)	.	STMN4_HUMAN	STMN4	HGNC	.	.	UPI000002B451	SNV	STMN4,missense_variant,p.Ala214Asp,ENST00000350889,;STMN4,missense_variant,p.Ala187Asp,ENST00000265770,;STMN4,3_prime_UTR_variant,,ENST00000523048,;STMN4,3_prime_UTR_variant,,ENST00000519997,;STMN4,downstream_gene_variant,,ENST00000519614,;STMN4,downstream_gene_variant,,ENST00000522908,;STMN4,downstream_gene_variant,,ENST00000522750,;	755	58	48	SUCCESS
SPTAN1	6709	.	GRCh37	9	131378105	131378121	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	GGAGTCCTGGATCAAGT	GGAGTCCTGGATCAAGT	-	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	GGAGTCCTGGATCAAGT	GGAGTCCTGGATCAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	67	0	ENST00000372731.4:c.5328_5342+2del		p.X1776_splice	ENST00000372731	NM_003127.3	1776		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS48036.1	5343-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACGAGGAGTCCTGGATCAAGTATGTC	NONE	.	.	.	.	.	ENSP00000361824	.	41/57	.	.	.	.	.	.	.	.	.	41/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	HIGH	41/56	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	deletion	SPTAN1,splice_donor_variant,,ENST00000372739,;SPTAN1,splice_donor_variant,,ENST00000358161,;SPTAN1,splice_donor_variant,,ENST00000372731,;SPTAN1,downstream_gene_variant,,ENST00000476825,;	5453-?	67	67	SUCCESS
ZDHHC9	51114	.	GRCh37	X	128975989	128975989	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	69	0	ENST00000357166.6:c.-68G>A		p.*23*	ENST00000357166	NM_016032.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35395.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCTTTGA	NONE	.	.	.	.	.	ENSP00000349689	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000357166	Transcript	.	.	ENSG00000188706	18475	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDHC9_HUMAN	ZDHHC9	HGNC	Q5JYE8_HUMAN	.	UPI0000048EB7	SNV	ZDHHC9,5_prime_UTR_variant,,ENST00000371064,;ZDHHC9,5_prime_UTR_variant,,ENST00000357166,;ZDHHC9,intron_variant,,ENST00000406492,;ZDHHC9,upstream_gene_variant,,ENST00000433917,;	325	70	77	SUCCESS
MAGEA1	4100	.	GRCh37	X	152482351	152482351	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	78	184	1	ENST00000356661.5:c.660G>C	p.Val220=	p.V220=	ENST00000356661	NM_004988.4	220	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS14720.1	660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCACACT	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF49,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000349085	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356661	Transcript	.	.	ENSG00000198681	6796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA1_HUMAN	MAGEA1	HGNC	A8IF97_HUMAN	.	UPI0000035FCB	SNV	MAGEA1,synonymous_variant,p.%3D,ENST00000356661,;	879	185	183	SUCCESS
ATP2B3	492	.	GRCh37	X	152825344	152825344	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782511452	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	99	0	ENST00000263519.4:c.2783A>T	p.Asn928Ile	p.N928I	ENST00000263519	NM_001001344.2	928	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS35440.1	2783	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAACATTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Superfamily_domains:0049473,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,hmmpanther:PTHR24093:SF265,hmmpanther:PTHR24093	.	.	ENSP00000263519	.	16/20	.	.	.	.	.	.	.	.	rs782511452	16/20	PASS	ENST00000263519	Transcript	.	.	ENSG00000067842	816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,missense_variant,p.Asn914Ile,ENST00000393842,;ATP2B3,missense_variant,p.Asn928Ile,ENST00000359149,;ATP2B3,missense_variant,p.Asn928Ile,ENST00000263519,;ATP2B3,missense_variant,p.Asn914Ile,ENST00000370181,;ATP2B3,missense_variant,p.Asn914Ile,ENST00000370186,;ATP2B3,missense_variant,p.Asn928Ile,ENST00000349466,;ATP2B3,non_coding_transcript_exon_variant,,ENST00000460549,;	2909	99	83	SUCCESS
UBL4A	8266	.	GRCh37	X	153714302	153714302	+	synonymous_variant	Silent	SNP	C	C	T	rs1557212770	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	21	44	0	ENST00000369660.4:c.171G>A	p.Ser57=	p.S57=	ENST00000369660	NM_014235.3	57	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14754.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCCGAGAG	NONE	.	.	Prints_domain:PR00348,Superfamily_domains:SSF54236,SMART_domains:SM00213,Pfam_domain:PF00240,Gene3D:3.10.20.90,hmmpanther:PTHR10666:SF85,hmmpanther:PTHR10666,PROSITE_profiles:PS50053	.	.	ENSP00000358674	.	3/4	.	.	.	.	.	.	.	.	COSM367972	3/4	PASS	ENST00000369660	Transcript	.	.	ENSG00000102178	12505	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UBL4A_HUMAN	UBL4A	HGNC	.	.	UPI00001379D0	SNV	UBL4A,synonymous_variant,p.%3D,ENST00000369660,;UBL4A,synonymous_variant,p.%3D,ENST00000369653,;SLC10A3,downstream_gene_variant,,ENST00000393587,;SLC10A3,downstream_gene_variant,,ENST00000263512,;SLC10A3,downstream_gene_variant,,ENST00000453912,;SLC10A3,downstream_gene_variant,,ENST00000369649,;SLC10A3,downstream_gene_variant,,ENST00000393586,;UBL4A,non_coding_transcript_exon_variant,,ENST00000477777,;UBL4A,missense_variant,p.Arg22Gln,ENST00000421431,;UBL4A,missense_variant,p.Arg92Gln,ENST00000417913,;UBL4A,downstream_gene_variant,,ENST00000481237,;	257	44	39	SUCCESS
DCAF8L2	347442	.	GRCh37	X	27766594	27766594	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	92	216	0	ENST00000451261.2:c.1582T>C	p.Leu528=	p.L528=	ENST00000451261	NM_001136533.1	528	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS59162.1	1582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTTGGCG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF36,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000462745	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000451261	Transcript	.	.	ENSG00000189186	31811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC8L2_HUMAN	DCAF8L2	HGNC	J3QRI4_HUMAN	.	UPI000183CBD9	SNV	DCAF8L2,synonymous_variant,p.%3D,ENST00000451261,;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;AC107613.1,non_coding_transcript_exon_variant,,ENST00000545306,;	1981	216	206	SUCCESS
NLGN4X	57502	.	GRCh37	X	6069247	6069247	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	68	192	0	ENST00000275857.6:c.261G>C	p.Arg87=	p.R87=	ENST00000275857	NM_020742.2	87	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS14126.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAACCGCCT	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,synonymous_variant,p.%3D,ENST00000381092,;NLGN4X,synonymous_variant,p.%3D,ENST00000381095,;NLGN4X,synonymous_variant,p.%3D,ENST00000381093,;NLGN4X,synonymous_variant,p.%3D,ENST00000538097,;NLGN4X,synonymous_variant,p.%3D,ENST00000275857,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,downstream_gene_variant,,ENST00000483337,;	889	193	167	SUCCESS
DLG3	1741	.	GRCh37	X	69672371	69672371	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	59	100	0	ENST00000374360.3:c.1145+495G>A		p.*382*	ENST00000374360	NM_021120.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14403.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCTGGGGTTC	NONE	.	.	.	.	.	ENSP00000363480	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374360	Transcript	.	.	ENSG00000082458	2902	.	.	MODIFIER	7/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,5_prime_UTR_variant,,ENST00000374355,;DLG3,intron_variant,,ENST00000194900,;DLG3,intron_variant,,ENST00000374360,;DLG3,upstream_gene_variant,,ENST00000542398,;RNU4-81P,downstream_gene_variant,,ENST00000363561,;DLG3-AS1,downstream_gene_variant,,ENST00000431103,;DLG3-AS1,downstream_gene_variant,,ENST00000424211,;DLG3,upstream_gene_variant,,ENST00000489733,;DLG3,upstream_gene_variant,,ENST00000494493,;DLG3,intron_variant,,ENST00000463252,;	.	100	144	SUCCESS
SGPL1	8879	.	GRCh37	10	72633292	72633292	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	45	0	ENST00000373202.3:c.1244G>A	p.Gly415Asp	p.G415D	ENST00000373202	NM_003901.3	415	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31216.1	1244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGGCTATG	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF63,Pfam_domain:PF00282,Superfamily_domains:SSF53383	.	.	ENSP00000362298	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000373202	Transcript	.	.	ENSG00000166224	10817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	SGPL1_HUMAN	SGPL1	HGNC	.	.	UPI0000032F1A	SNV	SGPL1,missense_variant,p.Gly415Asp,ENST00000373202,;	1444	45	62	SUCCESS
TCTN3	26123	.	GRCh37	10	97442541	97442541	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	43	0	ENST00000371217.5:c.1319G>A	p.Ser440Asn	p.S440N	ENST00000371217		440	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS31258.2	1319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCTGCAG	NONE	.	.	hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF4	.	.	ENSP00000360261	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000371217	Transcript	1	.	ENSG00000119977	24519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.04)	.	.	TCTN3	HGNC	.	.	UPI000004BA6E	SNV	TCTN3,missense_variant,p.Ser458Asn,ENST00000265993,;TCTN3,missense_variant,p.Ser292Asn,ENST00000430368,;TCTN3,missense_variant,p.Ser440Asn,ENST00000371217,;TCTN3,downstream_gene_variant,,ENST00000371209,;TCTN3,downstream_gene_variant,,ENST00000497399,;	1343	43	41	SUCCESS
OR10S1	219873	.	GRCh37	11	123847876	123847876	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	72	0	ENST00000531945.1:c.523T>G	p.Ser175Ala	p.S175A	ENST00000531945	NM_001004474.1	175	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS31701.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGAGGTGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000431914	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000531945	Transcript	.	.	ENSG00000196248	14807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.41)	.	O10S1_HUMAN	OR10S1	HGNC	.	.	UPI00001A7787	SNV	OR10S1,missense_variant,p.Ser175Ala,ENST00000531945,;	613	72	105	SUCCESS
IGSF9B	22997	.	GRCh37	11	133816010	133816010	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	58	103	0	ENST00000321016.8:c.208C>G	p.Pro70Ala	p.P70A	ENST00000321016		70	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS61010.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAGGGATGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000436552	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,missense_variant,p.Pro117Ala,ENST00000526663,;IGSF9B,missense_variant,p.Pro60Ala,ENST00000533160,;IGSF9B,missense_variant,p.Pro70Ala,ENST00000533871,;IGSF9B,missense_variant,p.Pro70Ala,ENST00000321016,;	439	103	130	SUCCESS
OR5AP2	338675	.	GRCh37	11	56409796	56409796	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	60	0	ENST00000302981.1:c.120C>A	p.Ile40=	p.I40=	ENST00000302981	NM_001002925.1	40	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31534.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATAGATCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF151,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000303111	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302981	Transcript	.	.	ENSG00000172464	15258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O5AP2_HUMAN	OR5AP2	HGNC	.	.	UPI0000061EE6	SNV	OR5AP2,synonymous_variant,p.%3D,ENST00000302981,;OR5AP2,synonymous_variant,p.%3D,ENST00000544374,;AP002517.1,downstream_gene_variant,,ENST00000584225,;	120	60	92	SUCCESS
SLC25A45	283130	.	GRCh37	11	65147644	65147644	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs867092318	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	51	86	0	ENST00000398802.1:c.40G>A	p.Ala14Thr	p.A14T	ENST00000398802	NM_182556.2	14	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41670.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCGCCTG	NONE	.	.	Prints_domain:PR00926,Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF249,PROSITE_profiles:PS50920	.	.	ENSP00000381782	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000398802	Transcript	.	.	ENSG00000162241	27442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.05)	.	S2545_HUMAN	SLC25A45	HGNC	E9PK53_HUMAN	.	UPI0000199B26	SNV	SLC25A45,missense_variant,p.Ala14Thr,ENST00000530936,;SLC25A45,missense_variant,p.Ala14Thr,ENST00000526432,;SLC25A45,missense_variant,p.Ala14Thr,ENST00000398802,;SLC25A45,missense_variant,p.Ala14Thr,ENST00000360662,;SLC25A45,missense_variant,p.Ala14Thr,ENST00000527174,;SLC25A45,missense_variant,p.Ala14Thr,ENST00000534028,;SLC25A45,splice_region_variant,,ENST00000377152,;SLC25A45,splice_region_variant,,ENST00000294187,;SLC25A45,5_prime_UTR_variant,,ENST00000417511,;RP11-867O8.5,downstream_gene_variant,,ENST00000533886,;SLC25A45,missense_variant,p.Arg27His,ENST00000533629,;SLC25A45,missense_variant,p.Arg27His,ENST00000526259,;SLC25A45,splice_region_variant,,ENST00000524438,;SLC25A45,splice_region_variant,,ENST00000529962,;SLC25A45,splice_region_variant,,ENST00000525944,;SLC25A45,3_prime_UTR_variant,,ENST00000526898,;SLC25A45,non_coding_transcript_exon_variant,,ENST00000531791,;SLC25A45,downstream_gene_variant,,ENST00000529431,;SLC25A45,upstream_gene_variant,,ENST00000534338,;	244	86	101	SUCCESS
KCTD14	65987	.	GRCh37	11	77728170	77728170	+	synonymous_variant	Silent	SNP	G	G	A	rs775807284	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	6	103	0	ENST00000353172.5:c.237C>T	p.Ile79=	p.I79=	ENST00000353172	NM_023930.3	79	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS8255.2	237	MUTECT|MUSE	.	CGGTCGATGAA	SITE|p.I79I|c.237C>T|3	.	.	hmmpanther:PTHR14499:SF3,hmmpanther:PTHR14499,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000316482	.	2/2	.	.	.	.	.	.	.	.	rs775807284,COSM3383843	2/2	PASS	ENST00000353172	Transcript	.	.	ENSG00000151364	23295	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	KCD14_HUMAN	KCTD14	HGNC	B2R9R8_HUMAN	.	UPI000003E7AB	SNV	KCTD14,synonymous_variant,p.%3D,ENST00000533144,;KCTD14,synonymous_variant,p.%3D,ENST00000353172,;NDUFC2-KCTD14,3_prime_UTR_variant,,ENST00000528251,;NDUFC2-KCTD14,3_prime_UTR_variant,,ENST00000530054,;RP11-7I15.3,downstream_gene_variant,,ENST00000533697,;	282	103	167	SUCCESS
PTPRO	5800	.	GRCh37	12	15702138	15702138	+	synonymous_variant	Silent	SNP	G	G	A	rs147165417	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	5	86	0	ENST00000281171.4:c.2415G>A	p.Thr805=	p.T805=	ENST00000281171	NM_030667.2	805	acG/acA	0	A:0.0011	.	.	.	.	A	T	protein_coding	YES	CCDS8675.1	2415	MUTECT|MUSE	.	CCTACGTTCAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	A:0.0002	ENSP00000281171	.	14/27	.	.	.	.	.	.	.	.	rs147165417	14/27	PASS	ENST00000281171	Transcript	.	.	ENSG00000151490	9678	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRO_HUMAN	PTPRO	HGNC	B4DS16_HUMAN	.	UPI000013DC62	SNV	PTPRO,synonymous_variant,p.%3D,ENST00000348962,;PTPRO,synonymous_variant,p.%3D,ENST00000281171,;PTPRO,5_prime_UTR_variant,,ENST00000544244,;PTPRO,5_prime_UTR_variant,,ENST00000445537,;PTPRO,5_prime_UTR_variant,,ENST00000542557,;PTPRO,5_prime_UTR_variant,,ENST00000442921,;PTPRO,synonymous_variant,p.%3D,ENST00000535311,;	2745	86	85	SUCCESS
PLEKHA8P1	51054	.	GRCh37	12	45567136	45567136	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs368625378	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	83	102	0	ENST00000256692.5:n.1550C>T		p.*517*	ENST00000256692				0	T:0	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAACGCAAAA	NONE	byFrequency|byCluster	.	.	.	T:0.0001	.	.	3/3	.	.	.	.	.	.	.	.	rs368625378	3/3	PASS	ENST00000256692	Transcript	.	.	ENSG00000134297	30222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLEKHA8P1	HGNC	.	.	.	SNV	PLEKHA8P1,non_coding_transcript_exon_variant,,ENST00000256692,;PLEKHA8P1,downstream_gene_variant,,ENST00000545609,;PLEKHA8P1,downstream_gene_variant,,ENST00000550498,;PLEKHA8P1,non_coding_transcript_exon_variant,,ENST00000336399,;	1550	102	151	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111767867	111767867	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs761856368	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	12	0	ENST00000375741.2:c.-7C>A		p.*3*	ENST00000375741	NM_145735.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45068.1	.	MUTECT|MUSE	.	CGGGCCGCAGC	NONE	byFrequency	.	.	.	.	ENSP00000364893	.	1/20	.	.	.	.	.	.	.	.	rs761856368	1/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,5_prime_UTR_variant,,ENST00000449979,;ARHGEF7,5_prime_UTR_variant,,ENST00000375739,;ARHGEF7,5_prime_UTR_variant,,ENST00000375741,;ARHGEF7,5_prime_UTR_variant,,ENST00000317133,;ARHGEF7,upstream_gene_variant,,ENST00000370623,;ARHGEF7-AS2,intron_variant,,ENST00000425094,;ARHGEF7,non_coding_transcript_exon_variant,,ENST00000422836,;ARHGEF7,intron_variant,,ENST00000483540,;	244	12	14	SUCCESS
PARP4	143	.	GRCh37	13	25073508	25073508	+	synonymous_variant	Silent	SNP	A	A	G	rs139683851	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	128	481	0	ENST00000381989.3:c.408T>C	p.Gly136=	p.G136=	ENST00000381989	NM_006437.3	136	ggT/ggC	0	G:0.0002	.	.	.	.	G	G	protein_coding	YES	CCDS9307.1	408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATACCAAA	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000371419	.	5/34	.	.	.	.	.	.	.	.	rs139683851	5/34	PASS	ENST00000381989	Transcript	.	.	ENSG00000102699	271	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP4_HUMAN	PARP4	HGNC	.	.	UPI000013C76E	SNV	PARP4,synonymous_variant,p.%3D,ENST00000381989,;TPTE2P6,intron_variant,,ENST00000445572,;	514	481	326	SUCCESS
FLT1	2321	.	GRCh37	13	29012442	29012442	+	synonymous_variant	Silent	SNP	G	G	A	rs537466636	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	50	0	ENST00000282397.4:c.429C>T	p.Pro143=	p.P143=	ENST00000282397	NM_002019.4	143	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9330.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCGGGGAT	NONE	byCluster	.	Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR01833	.	.	ENSP00000282397	.	4/30	.	.	.	.	.	.	.	.	rs537466636	4/30	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,synonymous_variant,p.%3D,ENST00000539099,;FLT1,synonymous_variant,p.%3D,ENST00000282397,;FLT1,synonymous_variant,p.%3D,ENST00000541932,;	681	50	35	SUCCESS
DCT	1638	.	GRCh37	13	95104904	95104904	+	intron_variant	Intron	SNP	G	G	A	rs192427783	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	29	0	ENST00000377028.5:c.1179+7441C>T		p.*393*	ENST00000377028	NM_001922.3	398		0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS45060.1	1192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACGATTAG	NONE	by1000G	.	hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4	A:0.001	.	ENSP00000392762	A:0	7/10	.	.	.	.	.	.	.	.	rs192427783,COSM948914	7/10	PASS	ENST00000446125	Transcript	.	A:0.0002	ENSG00000080166	2709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.008)	A:0	tolerated_low_confidence(0.06)	0,1	TYRP2_HUMAN	DCT	HGNC	Q9NQD8_HUMAN,Q0PK43_HUMAN	.	UPI0000E13F02	SNV	DCT,missense_variant,p.Arg398Cys,ENST00000446125,;DCT,intron_variant,,ENST00000377028,;DCT,intron_variant,,ENST00000483392,;	1619	29	44	SUCCESS
ARHGEF40	55701	.	GRCh37	14	21541244	21541244	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	52	0	ENST00000298694.4:c.44C>T	p.Ala15Val	p.A15V	ENST00000298694	NM_001278529.1	15	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32041.1	44	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGCCGCCC	NONE	.	.	hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	.	.	ENSP00000298694	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000298694	Transcript	.	.	ENSG00000165801	25516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	ARH40_HUMAN	ARHGEF40	HGNC	.	.	UPI00001FCFB7	SNV	ARHGEF40,missense_variant,p.Ala15Val,ENST00000555038,;ARHGEF40,missense_variant,p.Ala15Val,ENST00000298694,;ARHGEF40,missense_variant,p.Ala15Val,ENST00000298693,;NDRG2,upstream_gene_variant,,ENST00000403829,;ARHGEF40,missense_variant,p.Ala15Val,ENST00000556399,;ARHGEF40,missense_variant,p.Ala15Val,ENST00000553709,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,;ARHGEF40,upstream_gene_variant,,ENST00000555052,;	171	52	43	SUCCESS
MYH6	4624	.	GRCh37	14	23868079	23868079	+	synonymous_variant	Silent	SNP	G	G	A	rs187508349	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	99	0	ENST00000356287.3:c.1749C>T	p.Tyr583=	p.Y583=	ENST00000356287		583	taC/taT	0	A:0.0002	A:0.0015	.	A:0	.	A	Y	protein_coding	YES	CCDS9600.1	1749	MUTECT|MUSE	.	CCGGCGTAGTG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000386041	A:0	15/39	.	.	.	.	.	.	.	.	rs187508349	15/39	PASS	ENST00000405093	Transcript	.	A:0.0004	ENSG00000197616	7576	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,synonymous_variant,p.%3D,ENST00000405093,;MYH6,synonymous_variant,p.%3D,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	1820	99	62	SUCCESS
WASH3P	374666	.	GRCh37	15	102506394	102506394	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs750394849	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	36	0	ENST00000354296.5:n.146C>T		p.*49*	ENST00000354296				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACCTGCA	NONE	byFrequency	4783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750394849	.	PASS	ENST00000561145	Transcript	.	.	ENSG00000259553	38246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MIR1302-11	HGNC	.	.	.	SNV	MIR1302-11,upstream_gene_variant,,ENST00000561145,;WASH3P,non_coding_transcript_exon_variant,,ENST00000559163,;WASH3P,non_coding_transcript_exon_variant,,ENST00000558686,;WASH3P,non_coding_transcript_exon_variant,,ENST00000559884,;WASH3P,non_coding_transcript_exon_variant,,ENST00000557932,;WASH3P,non_coding_transcript_exon_variant,,ENST00000354296,;WASH3P,non_coding_transcript_exon_variant,,ENST00000558784,;WASH3P,non_coding_transcript_exon_variant,,ENST00000378819,;WASH3P,non_coding_transcript_exon_variant,,ENST00000560956,;WASH3P,non_coding_transcript_exon_variant,,ENST00000398121,;WASH3P,non_coding_transcript_exon_variant,,ENST00000338304,;	.	36	52	SUCCESS
HERC2	8924	.	GRCh37	15	28421672	28421672	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	24	139	0	ENST00000261609.7:c.9588C>T	p.Pro3196=	p.P3196=	ENST00000261609	NM_004667.5	3196	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10021.1	9588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGGAAT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000261609	.	63/93	.	.	.	.	.	.	.	.	.	63/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,synonymous_variant,p.%3D,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	9697	139	110	SUCCESS
LPCAT4	254531	.	GRCh37	15	34659274	34659274	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757794901	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	10	119	0	ENST00000314891.6:c.28G>C	p.Ala10Pro	p.A10P	ENST00000314891	NM_153613.2	10	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS32191.1	28	MUTECT|MUSE	.	GGGGGCCCAGT	NONE	byFrequency	.	hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7	.	.	ENSP00000317300	.	1/14	.	.	.	.	.	.	.	.	rs757794901	1/14	PASS	ENST00000314891	Transcript	.	.	ENSG00000176454	30059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.2)	.	LPCT4_HUMAN	LPCAT4	HGNC	B7ZM32_HUMAN	.	UPI00003D0606	SNV	LPCAT4,missense_variant,p.Ala10Pro,ENST00000314891,;LPCAT4,upstream_gene_variant,,ENST00000562431,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000566581,;LPCAT4,upstream_gene_variant,,ENST00000563240,;LPCAT4,upstream_gene_variant,,ENST00000562404,;LPCAT4,upstream_gene_variant,,ENST00000567507,;LPCAT4,upstream_gene_variant,,ENST00000563748,;LPCAT4,upstream_gene_variant,,ENST00000569804,;	206	119	122	SUCCESS
HDC	3067	.	GRCh37	15	50549685	50549685	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	25	39	0	ENST00000267845.3:c.378G>A	p.Met126Ile	p.M126I	ENST00000267845	NM_002112.3	126	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS10134.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCATTTT	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00800	.	.	ENSP00000267845	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000267845	Transcript	.	.	ENSG00000140287	4855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0.02)	.	DCHS_HUMAN	HDC	HGNC	.	.	UPI0000128FB4	SNV	HDC,missense_variant,p.Met120Ile,ENST00000559683,;HDC,missense_variant,p.Met126Ile,ENST00000543581,;HDC,missense_variant,p.Met126Ile,ENST00000267845,;HDC,non_coding_transcript_exon_variant,,ENST00000558679,;HDC,intron_variant,,ENST00000558761,;HDC,intron_variant,,ENST00000559190,;HDC,upstream_gene_variant,,ENST00000559816,;	781	39	41	SUCCESS
ZSCAN10	84891	.	GRCh37	16	3139523	3139523	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs540283059	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	70	0	ENST00000252463.2:c.1747G>T	p.Glu583Ter	p.E583*	ENST00000252463	NM_032805.1	583	Gag/Tag	0	.	T:0	.	T:0	.	A	E/*	protein_coding	YES	CCDS10493.1	1747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCGCTGC	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF139,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0.001	.	ENSP00000252463	T:0	5/5	.	.	.	.	.	.	.	.	rs540283059,COSM3509196	5/5	PASS	ENST00000252463	Transcript	.	T:0.0002	ENSG00000130182	12997	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	ZSC10_HUMAN	ZSCAN10	HGNC	I3L1J3_HUMAN,I3L0Q3_HUMAN	.	UPI000006F1B0	SNV	ZSCAN10,stop_gained,p.Glu583Ter,ENST00000252463,;ZSCAN10,stop_gained,p.Glu501Ter,ENST00000538082,;ZSCAN10,stop_gained,p.Glu244Ter,ENST00000575108,;ZSCAN10,downstream_gene_variant,,ENST00000576985,;ZSCAN10,downstream_gene_variant,,ENST00000576483,;ZSCAN10,downstream_gene_variant,,ENST00000572548,;ZSCAN10,downstream_gene_variant,,ENST00000572431,;RNU1-22P,downstream_gene_variant,,ENST00000363334,;RP11-473M20.9,upstream_gene_variant,,ENST00000571404,;RP11-473M20.9,upstream_gene_variant,,ENST00000574387,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;ZSCAN10,downstream_gene_variant,,ENST00000571903,;	1835	70	41	SUCCESS
ITGAD	3681	.	GRCh37	16	31422687	31422687	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752180420	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	101	0	ENST00000389202.2:c.1556G>A	p.Arg519His	p.R519H	ENST00000389202	NM_005353.2	519	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32438.1	1556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGCTTTG	NONE	.	.	Prints_domain:PR01185,Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS51470	.	.	ENSP00000373854	.	14/30	.	.	.	.	.	.	.	.	rs752180420	14/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.07)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Arg519His,ENST00000389202,;ITGAD,downstream_gene_variant,,ENST00000444228,;	1605	101	76	SUCCESS
TRAP1	10131	.	GRCh37	16	3713465	3713465	+	synonymous_variant	Silent	SNP	C	C	T	rs1435632495	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	61	0	ENST00000246957.5:c.1668G>A	p.Val556=	p.V556=	ENST00000246957	NM_016292.2	556	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10508.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCACGAC	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF24,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583	.	.	ENSP00000246957	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000246957	Transcript	.	.	ENSG00000126602	16264	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAP1_HUMAN	TRAP1	HGNC	I3L0P6_HUMAN,I3L0K7_HUMAN	.	UPI000013CC0A	SNV	TRAP1,synonymous_variant,p.%3D,ENST00000575671,;TRAP1,synonymous_variant,p.%3D,ENST00000538171,;TRAP1,synonymous_variant,p.%3D,ENST00000246957,;DNASE1,intron_variant,,ENST00000414110,;DNASE1,intron_variant,,ENST00000575479,;TRAP1,downstream_gene_variant,,ENST00000576335,;DNASE1,non_coding_transcript_exon_variant,,ENST00000575152,;TRAP1,downstream_gene_variant,,ENST00000573872,;DNASE1,intron_variant,,ENST00000571460,;TRAP1,upstream_gene_variant,,ENST00000574494,;TRAP1,upstream_gene_variant,,ENST00000575707,;	1757	61	37	SUCCESS
PMFBP1	83449	.	GRCh37	16	72198723	72198723	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	41	0	ENST00000237353.10:c.105A>G	p.Arg35=	p.R35=	ENST00000237353	NM_031293.2	35	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS32483.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTCTCTT	NONE	.	.	hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	.	.	ENSP00000237353	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000237353	Transcript	.	.	ENSG00000118557	17728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMFBP_HUMAN	PMFBP1	HGNC	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN	.	UPI0000141554	SNV	PMFBP1,synonymous_variant,p.%3D,ENST00000237353,;PMFBP1,synonymous_variant,p.%3D,ENST00000536211,;PMFBP1,synonymous_variant,p.%3D,ENST00000539172,;PMFBP1,synonymous_variant,p.%3D,ENST00000537465,;PMFBP1,synonymous_variant,p.%3D,ENST00000540440,;PMFBP1,synonymous_variant,p.%3D,ENST00000535461,;PMFBP1,5_prime_UTR_variant,,ENST00000355636,;PMFBP1,non_coding_transcript_exon_variant,,ENST00000543746,;PMFBP1,synonymous_variant,p.%3D,ENST00000379073,;	367	41	34	SUCCESS
CDT1	81620	.	GRCh37	16	88871218	88871218	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	60	81	0	ENST00000301019.4:c.400G>C	p.Gly134Arg	p.G134R	ENST00000301019	NM_030928.3	134	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS32510.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGGGCA	NONE	.	.	.	.	.	ENSP00000301019	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000301019	Transcript	.	.	ENSG00000167513	24576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	tolerated(0.11)	.	CDT1_HUMAN	CDT1	HGNC	.	.	UPI00001FF6B1	SNV	CDT1,missense_variant,p.Gly134Arg,ENST00000301019,;APRT,downstream_gene_variant,,ENST00000567713,;APRT,downstream_gene_variant,,ENST00000569616,;APRT,downstream_gene_variant,,ENST00000378364,;APRT,downstream_gene_variant,,ENST00000426324,;APRT,downstream_gene_variant,,ENST00000563655,;CDT1,upstream_gene_variant,,ENST00000569140,;CDT1,non_coding_transcript_exon_variant,,ENST00000562747,;APRT,downstream_gene_variant,,ENST00000567057,;APRT,downstream_gene_variant,,ENST00000568575,;APRT,downstream_gene_variant,,ENST00000567391,;APRT,downstream_gene_variant,,ENST00000568319,;APRT,downstream_gene_variant,,ENST00000562464,;	1019	81	80	SUCCESS
KRT9	3857	.	GRCh37	17	39726179	39726179	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	42	64	0	ENST00000246662.4:c.814T>A	p.Ser272Thr	p.S272T	ENST00000246662	NM_000226.3	272	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS32654.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGACTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000246662	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000246662	Transcript	.	.	ENSG00000171403	6447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	tolerated(0.55)	.	K1C9_HUMAN	KRT9	HGNC	K7EQQ3_HUMAN	.	UPI00001AE6F7	SNV	KRT9,missense_variant,p.Ser39Thr,ENST00000588431,;KRT9,missense_variant,p.Ser272Thr,ENST00000246662,;	880	64	79	SUCCESS
ARHGAP27	201176	.	GRCh37	17	43480082	43480082	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	30	0	ENST00000428638.1:c.1741G>A	p.Glu581Lys	p.E581K	ENST00000428638		581	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS11498.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCCAGCA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF2,PROSITE_profiles:PS50003	.	.	ENSP00000366121	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000376922	Transcript	.	.	ENSG00000159314	31813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RHG27_HUMAN	ARHGAP27	HGNC	.	.	UPI00001C0B29	SNV	ARHGAP27,missense_variant,p.Glu581Lys,ENST00000428638,;ARHGAP27,missense_variant,p.Glu559Lys,ENST00000532891,;ARHGAP27,missense_variant,p.Glu359Lys,ENST00000532038,;ARHGAP27,missense_variant,p.Glu240Lys,ENST00000376922,;ARHGAP27,missense_variant,p.Glu554Lys,ENST00000442348,;ARHGAP27,missense_variant,p.Glu213Lys,ENST00000528384,;ARHGAP27,missense_variant,p.Glu240Lys,ENST00000455881,;ARHGAP27,downstream_gene_variant,,ENST00000528677,;ARHGAP27,splice_region_variant,,ENST00000582826,;ARHGAP27,splice_region_variant,,ENST00000526484,;ARHGAP27,splice_region_variant,,ENST00000529357,;ARHGAP27,splice_region_variant,,ENST00000531735,;ARHGAP27,3_prime_UTR_variant,,ENST00000524404,;ARHGAP27,downstream_gene_variant,,ENST00000527678,;ARHGAP27,downstream_gene_variant,,ENST00000532667,;ARHGAP27,downstream_gene_variant,,ENST00000579357,;	1152	30	56	SUCCESS
NACA2	342538	.	GRCh37	17	59668029	59668029	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	62	0	ENST00000521764.1:c.513C>T	p.Val171=	p.V171=	ENST00000521764	NM_199290.3	171	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11630.1	513	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGACCTC	BUFFER|p.T174R|c.521C>G|4	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF015901,hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713	.	.	ENSP00000427802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000521764	Transcript	.	.	ENSG00000253506	23290	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NACA2_HUMAN	NACA2	HGNC	.	.	UPI0000070B04	SNV	NACA2,synonymous_variant,p.%3D,ENST00000521764,;AC002994.1,non_coding_transcript_exon_variant,,ENST00000447590,;	535	62	60	SUCCESS
TP53	7157	.	GRCh37	17	7577524	7577524	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	36	70	0	ENST00000269305.4:c.757A>G	p.Thr253Ala	p.T253A	ENST00000269305	NM_001126112.2	253	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11118.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTGAGGA	SITE|p.T253A|c.757A>G|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.L252_I254delLTI|c.754_762delCTCACCATC|4,CODON|p.L252_I254delLTI|c.751_759delATCCTCACC|4,CODON|p.T253I|c.758C>T|4,CODON|p.T253N|c.758C>A|3,BUFFER|p.T256T|c.768A>G|5,BUFFER|p.T256fs*89|c.766delA|3,BUFFER|p.T256fs*8|c.766_767insA|3,BUFFER|p.T256K|c.767C>A|4,BUFFER|p.T256A|c.766A>G|3,BUFFER|p.I255delI|c.763_765delATC|8,BUFFER|p.I255S|c.764T>G|4,BUFFER|p.I255S|c.764T>G|5,BUFFER|p.I255T|c.764T>C|7,BUFFER|p.I255N|c.764T>A|9,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255S|c.764T>G|5,BUFFER|p.I255S|c.764T>G|10,BUFFER|p.I255delI|c.760_762delATC|3,BUFFER|p.I255fs*90|c.762delC|3,BUFFER|p.I255fs*9|c.762_763insN|3,BUFFER|p.I255V|c.763A>G|3,BUFFER|p.I255F|c.763A>T|8,BUFFER|p.I255F|c.763A>T|8,BUFFER|p.I255F|c.763A>T|3,BUFFER|p.I255F|c.763A>T|3,BUFFER|p.I255F|c.763A>T|25,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254S|c.761T>G|9,BUFFER|p.I254N|c.761T>A|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254T|c.761T>C|3,BUFFER|p.I254F|c.760A>T|7,BUFFER|p.I254V|c.760A>G|6,BUFFER|p.I254fs*10|c.759_760insN|4,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	TP53_g.13394A>G,TP53_g.13394A>T,TP53_g.13394A>C,COSM45980,COSM43881,COSM45322	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1	.	.	probably_damaging(0.999)	.	tolerated(0.12)	0,0,0,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Thr253Ala,ENST00000413465,;TP53,missense_variant,p.Thr253Ala,ENST00000420246,;TP53,missense_variant,p.Thr253Ala,ENST00000269305,;TP53,missense_variant,p.Thr121Ala,ENST00000509690,;TP53,missense_variant,p.Thr253Ala,ENST00000359597,;TP53,missense_variant,p.Thr253Ala,ENST00000445888,;TP53,missense_variant,p.Thr253Ala,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	947	70	57	SUCCESS
SLMO1	0	.	GRCh37	18	12427045	12427045	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	48	104	0	ENST00000336990.4:c.297A>G	p.Thr99=	p.T99=	ENST00000336990	NM_006553.3	99	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS11860.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACACTCAC	NONE	.	.	PROSITE_profiles:PS50904,hmmpanther:PTHR11158,hmmpanther:PTHR11158:SF23,Pfam_domain:PF04707	.	.	ENSP00000404700	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000440960	Transcript	.	.	ENSG00000141391	24639	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLMO1_HUMAN	SLMO1	HGNC	K7EPM9_HUMAN,K7ENN4_HUMAN,B4E0C9_HUMAN	.	UPI0000070E6F	SNV	SLMO1,synonymous_variant,p.%3D,ENST00000587862,;SLMO1,synonymous_variant,p.%3D,ENST00000587735,;SLMO1,synonymous_variant,p.%3D,ENST00000440960,;SLMO1,synonymous_variant,p.%3D,ENST00000588729,;SLMO1,synonymous_variant,p.%3D,ENST00000592149,;SLMO1,synonymous_variant,p.%3D,ENST00000336990,;SLMO1,synonymous_variant,p.%3D,ENST00000590956,;SLMO1,synonymous_variant,p.%3D,ENST00000589952,;SLMO1,missense_variant,p.Thr41Ala,ENST00000589565,;AP001029.1,upstream_gene_variant,,ENST00000430510,;	377	104	99	SUCCESS
ZNF521	25925	.	GRCh37	18	22804905	22804905	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	41	0	ENST00000361524.3:c.2977T>A	p.Cys993Ser	p.C993S	ENST00000361524	NM_015461.2	993	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS32806.1	2977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCAAATCC	NONE	.	.	SMART_domains:SM00355,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Cys993Ser,ENST00000538137,;ZNF521,missense_variant,p.Cys773Ser,ENST00000584787,;ZNF521,missense_variant,p.Cys993Ser,ENST00000361524,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Cys993Ser,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	3126	41	47	SUCCESS
SMAD4	4089	.	GRCh37	18	48575093	48575093	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	101	0	ENST00000342988.3:c.289del	p.Arg97ValfsTer13	p.R97Vfs*13	ENST00000342988	NM_005359.5	96	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS11950.1	287	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTATGCCCGTC	CODON|p.0?|c.1_1659del1659|28,BUFFER|p.R100G|c.298A>G|3	.	.	PROSITE_profiles:PS51075,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03165,Gene3D:1ozjA00,SMART_domains:SM00523,Superfamily_domains:0040928	.	.	ENSP00000341551	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000342988	Transcript	.	.	ENSG00000141646	6770	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMAD4_HUMAN	SMAD4	HGNC	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN	.	UPI0000053431	deletion	SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000342988,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000398417,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000588860,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000590061,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000591914,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000452201,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000589941,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000588745,;SMAD4,downstream_gene_variant,,ENST00000589076,;SMAD4,non_coding_transcript_exon_variant,,ENST00000592911,;RP11-729L2.2,downstream_gene_variant,,ENST00000588256,;SMAD4,frameshift_variant,p.Arg97ValfsTer13,ENST00000592186,;RP11-729L2.2,3_prime_UTR_variant,,ENST00000590722,;SMAD4,non_coding_transcript_exon_variant,,ENST00000589706,;SMAD4,upstream_gene_variant,,ENST00000585448,;SMAD4,upstream_gene_variant,,ENST00000591126,;	825	101	84	SUCCESS
SMAD4	4089	.	GRCh37	18	48591919	48591919	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377767347	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	77	0	ENST00000342988.3:c.1082G>A	p.Arg361His	p.R361H	ENST00000342988	NM_005359.5	361	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11950.1	1082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AGATCGCTTTT	SITE|p.R361H|c.1082G>A|36,CODON|p.0?|c.1_1659del1659|28,CODON|p.R361G|c.1081C>G|3,CODON|p.R361C|c.1081C>T|25,BUFFER|p.G358*|c.1072G>T|4,BUFFER|p.C363Y|c.1088G>A|3	byCluster	.	PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879	.	.	ENSP00000341551	.	9/12	.	.	.	.	.	.	.	.	CM004254,rs377767347,CM100519,COSM14122,COSM4072505	9/12	PASS	ENST00000342988	Transcript	.	.	ENSG00000141646	6770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	20101697,10797267	probably_damaging(1)	.	deleterious(0.03)	0,0,0,1,1	SMAD4_HUMAN	SMAD4	HGNC	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN	.	UPI0000053431	SNV	SMAD4,missense_variant,p.Arg361His,ENST00000342988,;SMAD4,missense_variant,p.Arg361His,ENST00000398417,;SMAD4,missense_variant,p.Arg265His,ENST00000588745,;SMAD4,upstream_gene_variant,,ENST00000593223,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,intron_variant,,ENST00000592186,;SMAD4,upstream_gene_variant,,ENST00000590499,;	1620	77	55	SUCCESS
CCDC102B	79839	.	GRCh37	18	66504069	66504069	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	66	0	ENST00000319445.6:c.69T>A	p.Ile23=	p.I23=	ENST00000319445	NM_001093729.1	23	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11996.2	69	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATTAAGTC	NONE	.	.	.	.	.	ENSP00000353377	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000360242	Transcript	.	.	ENSG00000150636	26295	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	C102B_HUMAN	CCDC102B	HGNC	J3QLG6_HUMAN,J3QL62_HUMAN,J3KRT2_HUMAN,J3KRG3_HUMAN,A1A4H1_HUMAN	.	UPI0000201E87	SNV	CCDC102B,synonymous_variant,p.%3D,ENST00000584156,;CCDC102B,synonymous_variant,p.%3D,ENST00000319445,;CCDC102B,synonymous_variant,p.%3D,ENST00000358653,;CCDC102B,synonymous_variant,p.%3D,ENST00000584775,;CCDC102B,synonymous_variant,p.%3D,ENST00000360242,;CCDC102B,synonymous_variant,p.%3D,ENST00000578970,;CCDC102B,synonymous_variant,p.%3D,ENST00000582371,;CCDC102B,synonymous_variant,p.%3D,ENST00000581520,;CCDC102B,non_coding_transcript_exon_variant,,ENST00000577772,;	186	66	33	SUCCESS
CD97	0	.	GRCh37	19	14501784	14501784	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781751037	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	27	103	0	ENST00000242786.5:c.239C>T	p.Ser80Leu	p.S80L	ENST00000242786	NM_078481.3	80	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS32929.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTCGGACT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF253,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000242786	.	4/20	.	.	.	.	.	.	.	.	rs781751037	4/20	PASS	ENST00000242786	Transcript	.	.	ENSG00000123146	1711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.362)	.	deleterious(0)	.	CD97_HUMAN	CD97	HGNC	.	.	UPI0000161C9A	SNV	CD97,missense_variant,p.Ser80Leu,ENST00000591080,;CD97,missense_variant,p.Ser63Leu,ENST00000586517,;CD97,missense_variant,p.Ser80Leu,ENST00000242786,;CD97,missense_variant,p.Ser80Leu,ENST00000587606,;CD97,missense_variant,p.Ser80Leu,ENST00000357355,;CD97,missense_variant,p.Ser80Leu,ENST00000358600,;CD97,missense_variant,p.Ser80Leu,ENST00000592261,;CD97,non_coding_transcript_exon_variant,,ENST00000587728,;CD97,non_coding_transcript_exon_variant,,ENST00000587535,;	319	103	148	SUCCESS
HPN	3249	.	GRCh37	19	35540393	35540393	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	36	0	ENST00000262626.2:c.133A>T	p.Arg45Trp	p.R45W	ENST00000262626	NM_182983.2	45	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32993.1	133	RADIA|MUTECT|MUSE	.	TCCTCAGGAGT	NONE	.	.	.	.	.	ENSP00000262626	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000262626	Transcript	.	.	ENSG00000105707	5155	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.267)	.	deleterious(0.02)	.	HEPS_HUMAN	HPN	HGNC	M0R244_HUMAN,B2ZDQ2_HUMAN	.	UPI000003FE67	SNV	HPN,missense_variant,p.Arg45Trp,ENST00000262626,;HPN,missense_variant,p.Arg45Trp,ENST00000392226,;HPN,missense_variant,p.Arg45Trp,ENST00000600390,;HPN,intron_variant,,ENST00000597419,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000596662,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,intron_variant,,ENST00000599363,;	958	36	38	SUCCESS
LRFN3	79414	.	GRCh37	19	36431682	36431682	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761908851	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	68	0	ENST00000246529.3:c.1355C>G	p.Pro452Arg	p.P452R	ENST00000246529	NM_024509.1	452	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS12483.1	1355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCCGGGCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24373:SF1,hmmpanther:PTHR24373,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000466989	.	3/4	.	.	.	.	.	.	.	.	rs761908851	3/4	PASS	ENST00000588831	Transcript	.	.	ENSG00000126243	28370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.667)	.	deleterious(0.03)	.	LRFN3_HUMAN	LRFN3	HGNC	.	.	UPI0000070E5A	SNV	LRFN3,missense_variant,p.Pro452Arg,ENST00000588831,;LRFN3,missense_variant,p.Pro452Arg,ENST00000246529,;LRFN3,downstream_gene_variant,,ENST00000585876,;LRFN3,downstream_gene_variant,,ENST00000587257,;	2409	68	84	SUCCESS
C2CD4C	126567	.	GRCh37	19	407984	407984	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	69	119	0	ENST00000332235.6:c.378T>C	p.Thr126=	p.T126=	ENST00000332235	NM_001136263.1	126	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS45890.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTCAGTGGC	NONE	.	.	hmmpanther:PTHR10024:SF116,hmmpanther:PTHR10024	.	.	ENSP00000328677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332235	Transcript	.	.	ENSG00000183186	29417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2C4C_HUMAN	C2CD4C	HGNC	.	.	UPI00001C2016	SNV	C2CD4C,synonymous_variant,p.%3D,ENST00000332235,;	552	119	153	SUCCESS
CYP2A13	1553	.	GRCh37	19	41599545	41599545	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	28	107	0	ENST00000330436.3:c.842A>G	p.Asn281Ser	p.N281S	ENST00000330436	NM_000766.4	281	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12571.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAACCCCA	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000332679	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000330436	Transcript	.	.	ENSG00000197838	2608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious(0.02)	.	CP2AD_HUMAN	CYP2A13	HGNC	.	.	UPI000013E07A	SNV	CYP2A13,missense_variant,p.Asn281Ser,ENST00000330436,;	842	107	137	SUCCESS
ATP1A3	478	.	GRCh37	19	42485722	42485722	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	55	0	ENST00000302102.5:c.1369G>A	p.Val457Met	p.V457M	ENST00000302102	NM_152296.4	457	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS58664.1	1408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACGGAGC	NONE	.	.	Superfamily_domains:SSF81660,Pfam_domain:PF00702,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093:SF259,hmmpanther:PTHR24093	.	.	ENSP00000444688	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0.01)	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,missense_variant,p.Val427Met,ENST00000602133,;ATP1A3,missense_variant,p.Val470Met,ENST00000545399,;ATP1A3,missense_variant,p.Val468Met,ENST00000543770,;ATP1A3,missense_variant,p.Val457Met,ENST00000302102,;ATP1A3,downstream_gene_variant,,ENST00000473086,;ATP1A3,missense_variant,p.Val457Met,ENST00000441343,;ATP1A3,downstream_gene_variant,,ENST00000485672,;	1562	55	72	SUCCESS
IGFL2	147920	.	GRCh37	19	46663963	46663963	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754195953	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	55	0	ENST00000377693.4:c.166G>A	p.Ala56Thr	p.A56T	ENST00000377693	NM_001135113.1	56	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46122.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGCCATC	NONE	byFrequency	.	Pfam_domain:PF14653	.	.	ENSP00000395219	.	4/5	.	.	.	.	.	.	.	.	rs754195953,COSM3536056,COSM4079507	4/5	PASS	ENST00000434646	Transcript	.	.	ENSG00000204866	32929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.023)	.	tolerated(1)	0,1,1	IGFL2_HUMAN	IGFL2	HGNC	.	.	UPI00002026D9	SNV	IGFL2,missense_variant,p.Ala56Thr,ENST00000377693,;IGFL2,missense_variant,p.Ala22Thr,ENST00000601052,;IGFL2,missense_variant,p.Ala67Thr,ENST00000434646,;AC007193.6,intron_variant,,ENST00000597989,;AC006262.4,downstream_gene_variant,,ENST00000599127,;IGFL2,non_coding_transcript_exon_variant,,ENST00000600243,;IGFL2,non_coding_transcript_exon_variant,,ENST00000593592,;	490	55	62	SUCCESS
SLC1A5	6510	.	GRCh37	19	47290989	47290989	+	synonymous_variant	Silent	SNP	C	C	T	rs751973271	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	41	0	ENST00000542575.2:c.234G>A	p.Ala78=	p.A78=	ENST00000542575	NM_005628.2	78	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12692.1	234	MUTECT|MUSE	.	GCCAGCGCACC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF19,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221	.	.	ENSP00000444408	.	1/8	.	.	.	.	.	.	.	.	rs751973271	1/8	PASS	ENST00000542575	Transcript	.	.	ENSG00000105281	10943	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AAAT_HUMAN	SLC1A5	HGNC	M0R144_HUMAN	.	UPI000012507D	SNV	SLC1A5,synonymous_variant,p.%3D,ENST00000542575,;SLC1A5,upstream_gene_variant,,ENST00000412532,;SLC1A5,upstream_gene_variant,,ENST00000434726,;SLC1A5,upstream_gene_variant,,ENST00000594991,;SLC1A5,upstream_gene_variant,,ENST00000598022,;SLC1A5,upstream_gene_variant,,ENST00000593713,;	863	41	52	SUCCESS
SBK2	646643	.	GRCh37	19	56041657	56041657	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1414121177	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	28	0	ENST00000344158.3:c.490G>A	p.Ala164Thr	p.A164T	ENST00000344158		164	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42631.1	490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF293,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000389015	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000413299	Transcript	.	.	ENSG00000187550	34416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.11)	.	SBK2_HUMAN	SBK2	HGNC	.	.	UPI00015DFA43	SNV	SBK2,missense_variant,p.Ala164Thr,ENST00000413299,;SBK2,missense_variant,p.Ala164Thr,ENST00000344158,;	528	28	40	SUCCESS
SLC22A15	55356	.	GRCh37	1	116574049	116574049	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760335203	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	108	0	ENST00000369503.4:c.791C>T	p.Ala264Val	p.A264V	ENST00000369503	NM_018420.2	264	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44198.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGCTGT	NONE	byFrequency	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF170,hmmpanther:PTHR24064,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000358515	.	6/12	.	.	.	.	.	.	.	.	rs760335203	6/12	PASS	ENST00000369503	Transcript	.	.	ENSG00000163393	20301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(1)	.	S22AF_HUMAN	SLC22A15	HGNC	B3KWH0_HUMAN	.	UPI000007412F	SNV	SLC22A15,missense_variant,p.Ala264Val,ENST00000369503,;SLC22A15,3_prime_UTR_variant,,ENST00000369502,;SLC22A15,upstream_gene_variant,,ENST00000481127,;	921	108	76	SUCCESS
IQGAP3	128239	.	GRCh37	1	156521882	156521882	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	15	46	0	ENST00000361170.2:c.1454T>C	p.Phe485Ser	p.F485S	ENST00000361170	NM_178229.4	485	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS1144.1	1454	RADIA|MUTECT|MUSE|VARSCANS	.	CATCGAAGTAA	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10	.	.	ENSP00000354451	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000361170	Transcript	.	.	ENSG00000183856	20669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	tolerated(0.29)	.	IQGA3_HUMAN	IQGAP3	HGNC	F2Z2E2_HUMAN	.	UPI000046FFDD	SNV	IQGAP3,missense_variant,p.Phe485Ser,ENST00000361170,;IQGAP3,missense_variant,p.Phe442Ser,ENST00000491900,;	1465	46	117	SUCCESS
ADCY10	55811	.	GRCh37	1	167830128	167830128	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	37	95	0	ENST00000367851.4:c.1790A>G	p.Asn597Ser	p.N597S	ENST00000367851	NM_018417.4	597	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS1265.1	1790	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATTAAGA	NONE	.	.	hmmpanther:PTHR16305:SF23,hmmpanther:PTHR16305,PIRSF_domain:PIRSF011131	.	.	ENSP00000356825	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000367851	Transcript	.	.	ENSG00000143199	21285	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	ADCYA_HUMAN	ADCY10	HGNC	.	.	UPI0000204D00	SNV	ADCY10,missense_variant,p.Asn444Ser,ENST00000545172,;ADCY10,missense_variant,p.Asn597Ser,ENST00000367851,;ADCY10,missense_variant,p.Asn505Ser,ENST00000367848,;	1975	95	201	SUCCESS
LRRN2	10446	.	GRCh37	1	204589034	204589034	+	synonymous_variant	Silent	SNP	G	G	A	rs767887975	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	22	85	0	ENST00000367175.1:c.87C>T	p.Cys29=	p.C29=	ENST00000367175		29	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS1448.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGCAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF9,Gene3D:3.80.10.10	.	.	ENSP00000356143	.	1/1	.	.	.	.	.	.	.	.	rs767887975	1/1	PASS	ENST00000367175	Transcript	.	.	ENSG00000170382	16914	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRN2_HUMAN	LRRN2	HGNC	B3KM66_HUMAN	.	UPI000013E8AC	SNV	LRRN2,synonymous_variant,p.%3D,ENST00000367177,;LRRN2,synonymous_variant,p.%3D,ENST00000367176,;LRRN2,synonymous_variant,p.%3D,ENST00000367175,;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,non_coding_transcript_exon_variant,,ENST00000496057,;	2300	85	131	SUCCESS
EIF4G3	8672	.	GRCh37	1	21183930	21183930	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	81	0	ENST00000264211.8:c.3137T>C	p.Val1046Ala	p.V1046A	ENST00000264211	NM_003760.4	1046	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS55580.1	3155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTACCCGA	NONE	.	.	hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23	.	.	ENSP00000473510	.	23/35	.	.	.	.	.	.	.	.	.	23/35	PASS	ENST00000602326	Transcript	.	.	ENSG00000075151	3298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.625)	.	tolerated(0.32)	.	IF4G3_HUMAN	EIF4G3	HGNC	Q59GJ0_HUMAN,F5H564_HUMAN	.	UPI0001639589	SNV	EIF4G3,missense_variant,p.Val1046Ala,ENST00000400422,;EIF4G3,missense_variant,p.Val536Ala,ENST00000537738,;EIF4G3,missense_variant,p.Val650Ala,ENST00000536266,;EIF4G3,missense_variant,p.Val1052Ala,ENST00000374937,;EIF4G3,missense_variant,p.Val766Ala,ENST00000374935,;EIF4G3,missense_variant,p.Val1052Ala,ENST00000602326,;EIF4G3,missense_variant,p.Val1046Ala,ENST00000264211,;	3739	81	69	SUCCESS
AHDC1	27245	.	GRCh37	1	27877569	27877569	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	82	0	ENST00000247087.5:c.1058C>T	p.Pro353Leu	p.P353L	ENST00000247087		353	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS30652.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGGCTGC	NONE	.	.	hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated_low_confidence(0.07)	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	SNV	AHDC1,missense_variant,p.Pro353Leu,ENST00000247087,;AHDC1,missense_variant,p.Pro353Leu,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	2027	82	63	SUCCESS
SSBP3	23648	.	GRCh37	1	54871734	54871734	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs188330108	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	42	1	ENST00000371320.3:c.-53A>G		p.*18*	ENST00000371320	NM_145716.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS591.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCTACCGC	NONE	by1000G	.	.	.	.	ENSP00000360371	.	1/18	.	.	.	.	.	.	.	.	rs188330108	1/18	PASS	ENST00000371320	Transcript	.	.	ENSG00000157216	15674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSBP3_HUMAN	SSBP3	HGNC	Q9NW25_HUMAN,Q9BT57_HUMAN	.	UPI0000135F96	SNV	SSBP3,5_prime_UTR_variant,,ENST00000371320,;SSBP3,5_prime_UTR_variant,,ENST00000357475,;SSBP3,intron_variant,,ENST00000525990,;SSBP3,upstream_gene_variant,,ENST00000417664,;SSBP3,upstream_gene_variant,,ENST00000371319,;SSBP3,upstream_gene_variant,,ENST00000533946,;	359	43	37	SUCCESS
SSBP3	23648	.	GRCh37	1	54871735	54871735	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs1435546926	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	41	1	ENST00000371320.3:c.-54T>C		p.*18*	ENST00000371320	NM_145716.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS591.1	.	SOMATICSNIPER|VARSCANS	.	CCGCTACCGCT	NONE	.	.	.	.	.	ENSP00000360371	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000371320	Transcript	.	.	ENSG00000157216	15674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSBP3_HUMAN	SSBP3	HGNC	Q9NW25_HUMAN,Q9BT57_HUMAN	.	UPI0000135F96	SNV	SSBP3,5_prime_UTR_variant,,ENST00000371320,;SSBP3,5_prime_UTR_variant,,ENST00000357475,;SSBP3,intron_variant,,ENST00000525990,;SSBP3,upstream_gene_variant,,ENST00000417664,;SSBP3,upstream_gene_variant,,ENST00000371319,;SSBP3,upstream_gene_variant,,ENST00000533946,;	358	42	33	SUCCESS
IFI44L	10964	.	GRCh37	1	79095456	79095456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	51	0	ENST00000370751.5:c.579C>A	p.Asp193Glu	p.D193E	ENST00000370751	NM_006820.2	193	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS687.2	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACTTGGT	NONE	.	.	hmmpanther:PTHR14241,hmmpanther:PTHR14241:SF2,Superfamily_domains:SSF52540	.	.	ENSP00000359787	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000370751	Transcript	.	.	ENSG00000137959	17817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.324)	.	tolerated(0.07)	.	IF44L_HUMAN	IFI44L	HGNC	C9JPJ0_HUMAN,B4E019_HUMAN	.	UPI0000374C64	SNV	IFI44L,missense_variant,p.Asp170Glu,ENST00000450498,;IFI44L,missense_variant,p.Asp193Glu,ENST00000370751,;IFI44L,5_prime_UTR_variant,,ENST00000342282,;IFI44L,downstream_gene_variant,,ENST00000452835,;IFI44L,non_coding_transcript_exon_variant,,ENST00000462041,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476521,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476876,;IFI44L,non_coding_transcript_exon_variant,,ENST00000459784,;IFI44L,non_coding_transcript_exon_variant,,ENST00000486882,;IFI44L,non_coding_transcript_exon_variant,,ENST00000474002,;	758	51	65	SUCCESS
CHD6	84181	.	GRCh37	20	40050514	40050514	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	62	0	ENST00000373233.3:c.4761C>T	p.Gly1587=	p.G1587=	ENST00000373233	NM_032221.4	1587	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13317.1	4761	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTGCCGAT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589	.	.	ENSP00000362330	.	31/37	.	.	.	.	.	.	.	.	.	31/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,synonymous_variant,p.%3D,ENST00000373233,;CHD6,downstream_gene_variant,,ENST00000440697,;	4939	62	144	SUCCESS
ZNF831	128611	.	GRCh37	20	57769145	57769145	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751059121	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	20	0	ENST00000371030.2:c.3071G>A	p.Gly1024Glu	p.G1024E	ENST00000371030	NM_178457.2	1024	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS42894.1	3071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGGGACA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	rs751059121	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.444)	.	tolerated(1)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Gly1024Glu,ENST00000371030,;	3071	20	53	SUCCESS
ADRM1	11047	.	GRCh37	20	60878837	60878837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs756041119	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	30	0	ENST00000253003.2:c.213C>A	p.Asp71Glu	p.D71E	ENST00000253003	NM_175573.2	71	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS13496.1	213	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGTGAG	NONE	.	.	hmmpanther:PTHR12225,Pfam_domain:PF04683	.	.	ENSP00000253003	.	2/10	.	.	.	.	.	.	.	.	rs756041119	2/10	PASS	ENST00000253003	Transcript	.	.	ENSG00000130706	15759	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	ADRM1_HUMAN	ADRM1	HGNC	.	.	UPI0000125605	SNV	ADRM1,missense_variant,p.Asp71Glu,ENST00000253003,;RP11-157P1.4,downstream_gene_variant,,ENST00000414042,;ADRM1,splice_region_variant,,ENST00000491935,;ADRM1,splice_region_variant,,ENST00000462554,;ADRM1,upstream_gene_variant,,ENST00000465805,;LAMA5,downstream_gene_variant,,ENST00000492698,;	259	31	56	SUCCESS
GGT3P	2679	.	GRCh37	22	18769733	18769733	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	18	75	0	ENST00000412448.1:n.946G>A		p.*316*	ENST00000412448				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CCTGGCGGGCC	NONE	.	.	.	.	.	.	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000412448	Transcript	.	.	ENSG00000197421	4252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	GGT3P	HGNC	.	.	.	SNV	GGT3P,non_coding_transcript_exon_variant,,ENST00000412448,;GGT3P,non_coding_transcript_exon_variant,,ENST00000453783,;	946	75	108	SUCCESS
IL2RB	3560	.	GRCh37	22	37524403	37524403	+	synonymous_variant	Silent	SNP	G	G	T	rs766135944	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	11	53	0	ENST00000216223.5:c.1389C>A	p.Val463=	p.V463=	ENST00000216223	NM_000878.3	463	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS13942.1	1389	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGACTCT	NONE	.	.	hmmpanther:PTHR23037:SF23,hmmpanther:PTHR23037	.	.	ENSP00000216223	.	10/10	.	.	.	.	.	.	.	.	rs766135944	10/10	PASS	ENST00000216223	Transcript	.	.	ENSG00000100385	6009	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IL2RB_HUMAN	IL2RB	HGNC	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN	.	UPI000000128F	SNV	IL2RB,synonymous_variant,p.%3D,ENST00000216223,;IL2RB,downstream_gene_variant,,ENST00000483573,;	1588	53	89	SUCCESS
EP300	2033	.	GRCh37	22	41547912	41547912	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	36	109	0	ENST00000263253.7:c.2893C>G	p.Gln965Glu	p.Q965E	ENST00000263253	NM_001429.3	965	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS14010.1	2893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTCAGGCC	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.Gln965Glu,ENST00000263253,;	4112	109	194	SUCCESS
LRP1B	53353	.	GRCh37	2	141200109	141200109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1450675840	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	16	95	0	ENST00000389484.3:c.10378C>T	p.Pro3460Ser	p.P3460S	ENST00000389484	NM_018557.2	3460	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS2182.1	10378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGATCCT	NONE	.	.	PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	66/91	.	.	.	.	.	.	.	.	.	66/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Pro3460Ser,ENST00000389484,;	11350	95	87	SUCCESS
KIF5C	3800	.	GRCh37	2	149806841	149806841	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	40	0	ENST00000435030.1:c.833C>T	p.Pro278Leu	p.P278L	ENST00000435030		278	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	833	MUTECT|MUSE|VARSCANS	.	TGTGCCATACC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000393379	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,missense_variant,p.Pro46Leu,ENST00000397413,;KIF5C,missense_variant,p.Pro278Leu,ENST00000435030,;KIF5C,missense_variant,p.Pro183Leu,ENST00000414838,;KIF5C,5_prime_UTR_variant,,ENST00000450621,;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;	1201	40	55	SUCCESS
GEN1	348654	.	GRCh37	2	17942784	17942784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	235	72	335	0	ENST00000317402.7:c.283G>A	p.Gly95Arg	p.G95R	ENST00000317402	NM_182625.3	95	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS1691.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTATGGGTCT	NONE	.	.	hmmpanther:PTHR11081,hmmpanther:PTHR11081:SF23,Gene3D:3.40.50.1010,SMART_domains:SM00485,Superfamily_domains:SSF88723	.	.	ENSP00000370653	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000381254	Transcript	.	.	ENSG00000178295	26881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	GEN_HUMAN	GEN1	HGNC	E9PM30_HUMAN,E9PLG0_HUMAN	.	UPI00004113DA	SNV	GEN1,missense_variant,p.Gly95Arg,ENST00000524465,;GEN1,missense_variant,p.Gly95Arg,ENST00000381254,;GEN1,missense_variant,p.Gly95Arg,ENST00000317402,;SMC6,intron_variant,,ENST00000428868,;SMC6,intron_variant,,ENST00000402989,;GEN1,downstream_gene_variant,,ENST00000532257,;GEN1,non_coding_transcript_exon_variant,,ENST00000534669,;	497	336	307	SUCCESS
DRC1	92749	.	GRCh37	2	26652600	26652600	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	97	0	ENST00000288710.2:c.645G>A	p.Met215Ile	p.M215I	ENST00000288710	NM_145038.2	215	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1723.1	645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGAAAAC	NONE	.	.	hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1	.	.	ENSP00000288710	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000288710	Transcript	.	.	ENSG00000157856	24245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.15)	.	DRC1_HUMAN	DRC1	HGNC	.	.	UPI000013DF36	SNV	DRC1,missense_variant,p.Met215Ile,ENST00000288710,;DRC1,upstream_gene_variant,,ENST00000442810,;DRC1,upstream_gene_variant,,ENST00000483675,;DRC1,3_prime_UTR_variant,,ENST00000421869,;DRC1,non_coding_transcript_exon_variant,,ENST00000487307,;DRC1,non_coding_transcript_exon_variant,,ENST00000497651,;	719	97	91	SUCCESS
OTOF	9381	.	GRCh37	2	26695505	26695505	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200312028	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	48	0	ENST00000272371.2:c.3746G>A	p.Arg1249Gln	p.R1249Q	ENST00000272371	NM_194248.2	1249	cGg/cAg	0	G:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1725.1	3746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCGGAGA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32	.	G:0	ENSP00000272371	.	30/47	.	.	.	.	.	.	.	.	rs200312028	30/47	PASS	ENST00000272371	Transcript	.	.	ENSG00000115155	8515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.73)	.	OTOF_HUMAN	OTOF	HGNC	.	.	UPI000013D94D	SNV	OTOF,missense_variant,p.Arg1249Gln,ENST00000403946,;OTOF,missense_variant,p.Arg1249Gln,ENST00000272371,;OTOF,missense_variant,p.Arg559Gln,ENST00000402415,;OTOF,intron_variant,,ENST00000426958,;OTOF,intron_variant,,ENST00000338581,;OTOF,intron_variant,,ENST00000339598,;	3873	48	40	SUCCESS
SLC5A6	8884	.	GRCh37	2	27435079	27435079	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	19	238	0	ENST00000310574.3:c.-399G>C		p.*133*	ENST00000310574	NM_021095.2	3		0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS1741.1	8	MUTECT|MUSE	.	GAAGACCAGCG	NONE	.	.	.	.	.	ENSP00000369518	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000380171	Transcript	.	.	ENSG00000138085	24090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious_low_confidence(0)	.	ARAID_HUMAN	ATRAID	HGNC	C9JA62_HUMAN	.	UPI0000456D96	SNV	ATRAID,missense_variant,p.Thr3Ser,ENST00000380171,;SLC5A6,5_prime_UTR_variant,,ENST00000310574,;SLC5A6,5_prime_UTR_variant,,ENST00000414408,;SLC5A6,intron_variant,,ENST00000432106,;SLC5A6,intron_variant,,ENST00000442731,;SLC5A6,intron_variant,,ENST00000430186,;SLC5A6,intron_variant,,ENST00000428518,;SLC5A6,upstream_gene_variant,,ENST00000412471,;ATRAID,upstream_gene_variant,,ENST00000606999,;SLC5A6,upstream_gene_variant,,ENST00000426119,;SLC5A6,upstream_gene_variant,,ENST00000408041,;ATRAID,upstream_gene_variant,,ENST00000419744,;SLC5A6,upstream_gene_variant,,ENST00000401463,;ATRAID,upstream_gene_variant,,ENST00000405489,;ATRAID,non_coding_transcript_exon_variant,,ENST00000484646,;ATRAID,upstream_gene_variant,,ENST00000491220,;SLC5A6,upstream_gene_variant,,ENST00000488743,;ATRAID,upstream_gene_variant,,ENST00000472515,;SLC5A6,upstream_gene_variant,,ENST00000445802,;	185	238	251	SUCCESS
ADI1	55256	.	GRCh37	2	3523232	3523232	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	87	0	ENST00000327435.6:c.27C>T	p.Asp9=	p.D9=	ENST00000327435	NM_018269.3	9	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS1653.1	27	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGTCGTC	NONE	.	.	HAMAP:MF_03154,hmmpanther:PTHR23418,Gene3D:2.60.120.10,Pfam_domain:PF03079,Superfamily_domains:SSF51182	.	.	ENSP00000333666	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000327435	Transcript	.	.	ENSG00000182551	30576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTND_HUMAN	ADI1	HGNC	.	.	UPI000006D8C6	SNV	ADI1,synonymous_variant,p.%3D,ENST00000327435,;ADI1,upstream_gene_variant,,ENST00000382093,;AC142528.1,non_coding_transcript_exon_variant,,ENST00000450917,;	276	87	57	SUCCESS
VWA3B	200403	.	GRCh37	2	98914471	98914471	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777197115	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	31	0	ENST00000477737.1:c.3259G>A	p.Ala1087Thr	p.A1087T	ENST00000477737	NM_144992.4	1087	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS42718.1	3259	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGCCATG	NONE	byFrequency	.	Pfam_domain:PF15057,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	24/28	.	.	.	.	.	.	.	.	rs777197115	24/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.84)	.	deleterious(0.03)	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,missense_variant,p.Ala1087Thr,ENST00000477737,;VWA3B,missense_variant,p.Ala498Thr,ENST00000473149,;AC092675.1,downstream_gene_variant,,ENST00000401293,;VWA3B,non_coding_transcript_exon_variant,,ENST00000490947,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;	3463	31	32	SUCCESS
ZNF148	7707	.	GRCh37	3	124951547	124951547	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	47	80	0	ENST00000360647.4:c.2023C>T	p.His675Tyr	p.H675Y	ENST00000360647	NM_021964.2	675	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS3031.1	2023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGGGACT	NONE	.	.	hmmpanther:PTHR11389:SF324,hmmpanther:PTHR11389	.	.	ENSP00000353863	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000360647	Transcript	.	.	ENSG00000163848	12933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0.01)	.	ZN148_HUMAN	ZNF148	HGNC	C9K0U4_HUMAN,C9JRX0_HUMAN,C9J6Y6_HUMAN	.	UPI000013C2FF	SNV	ZNF148,missense_variant,p.His675Tyr,ENST00000485866,;ZNF148,missense_variant,p.His675Tyr,ENST00000492394,;ZNF148,missense_variant,p.His675Tyr,ENST00000360647,;ZNF148,missense_variant,p.His675Tyr,ENST00000484491,;ZNF148,intron_variant,,ENST00000544464,;ZNF148,intron_variant,,ENST00000468369,;SLC12A8,intron_variant,,ENST00000423114,;ZNF148,non_coding_transcript_exon_variant,,ENST00000497929,;ZNF148,intron_variant,,ENST00000496732,;	2509	80	87	SUCCESS
MGLL	11343	.	GRCh37	3	127414028	127414028	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	27	149	0	ENST00000398104.1:c.576C>T	p.Asp192=	p.D192=	ENST00000398104	NM_001003794.2	192	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS46902.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATGTCGAC	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,synonymous_variant,p.%3D,ENST00000265052,;MGLL,synonymous_variant,p.%3D,ENST00000453507,;MGLL,synonymous_variant,p.%3D,ENST00000398104,;MGLL,synonymous_variant,p.%3D,ENST00000496306,;MGLL,synonymous_variant,p.%3D,ENST00000484451,;MGLL,synonymous_variant,p.%3D,ENST00000398101,;MGLL,synonymous_variant,p.%3D,ENST00000434178,;MGLL,intron_variant,,ENST00000487473,;MGLL,non_coding_transcript_exon_variant,,ENST00000476682,;	1146	149	128	SUCCESS
MED12L	116931	.	GRCh37	3	151107778	151107778	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	59	0	ENST00000474524.1:c.5358G>T	p.Gln1786His	p.Q1786H	ENST00000474524	NM_053002.4	1786	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS33876.1	5358	RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGAGCAA	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5	.	.	ENSP00000417235	.	36/43	.	.	.	.	.	.	.	.	.	36/43	PASS	ENST00000474524	Transcript	.	.	ENSG00000144893	16050	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.125)	.	tolerated(0.19)	.	MD12L_HUMAN	MED12L	HGNC	.	.	UPI000020A46B	SNV	MED12L,missense_variant,p.Gln1786His,ENST00000474524,;MED12L,missense_variant,p.Gln1646His,ENST00000273432,;MED12L,upstream_gene_variant,,ENST00000488092,;	5396	59	59	SUCCESS
ABCC5	10057	.	GRCh37	3	183667774	183667774	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	32	149	0	ENST00000334444.6:c.3084G>T	p.Leu1028=	p.L1028=	ENST00000334444	NM_005688.2	1028	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43176.1	3084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCAGGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000333926	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000334444	Transcript	.	.	ENSG00000114770	56	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP5_HUMAN	ABCC5	HGNC	C9JZL5_HUMAN	.	UPI000004A33C	SNV	ABCC5,synonymous_variant,p.%3D,ENST00000265586,;ABCC5,synonymous_variant,p.%3D,ENST00000334444,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;	3325	149	143	SUCCESS
PALLD	23022	.	GRCh37	4	169602487	169602487	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	47	0	ENST00000505667.1:c.1092C>T	p.Ala364=	p.A364=	ENST00000505667		364	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54818.1	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCAGTTC	NONE	.	.	Superfamily_domains:SSF48726,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152	.	.	ENSP00000425556	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000505667	Transcript	1	.	ENSG00000129116	17068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALLD_HUMAN	PALLD	HGNC	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN	.	UPI000189A85C	SNV	PALLD,synonymous_variant,p.%3D,ENST00000508898,;PALLD,synonymous_variant,p.%3D,ENST00000333488,;PALLD,synonymous_variant,p.%3D,ENST00000261509,;PALLD,synonymous_variant,p.%3D,ENST00000505667,;PALLD,5_prime_UTR_variant,,ENST00000504519,;PALLD,5_prime_UTR_variant,,ENST00000335742,;PALLD,5_prime_UTR_variant,,ENST00000503457,;PALLD,5_prime_UTR_variant,,ENST00000512127,;PALLD,5_prime_UTR_variant,,ENST00000513245,;	1265	47	27	SUCCESS
SLIT2	9353	.	GRCh37	4	20533635	20533635	+	synonymous_variant	Silent	SNP	T	T	C	rs761101181	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	81	347	0	ENST00000504154.1:c.1642T>C	p.Leu548=	p.L548=	ENST00000504154	NM_004787.1	548	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3426.1	1642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGTTGGAA	NONE	.	.	hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	17/37	.	.	.	.	.	.	.	.	rs761101181	17/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,synonymous_variant,p.%3D,ENST00000273739,;SLIT2,synonymous_variant,p.%3D,ENST00000504154,;SLIT2,synonymous_variant,p.%3D,ENST00000503823,;SLIT2,synonymous_variant,p.%3D,ENST00000503837,;MIR218-1,downstream_gene_variant,,ENST00000384999,;SLIT2,upstream_gene_variant,,ENST00000509099,;	1894	347	249	SUCCESS
RAD50	10111	.	GRCh37	5	131893023	131893023	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	46	157	0	ENST00000265335.6:c.7C>G	p.Arg3Gly	p.R3G	ENST00000265335		3	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS34233.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCGGATC	NONE	.	.	hmmpanther:PTHR18867:SF12,hmmpanther:PTHR18867,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00606,Superfamily_domains:SSF52540	.	.	ENSP00000265335	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000265335	Transcript	1	.	ENSG00000113522	9816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0.03)	.	RAD50_HUMAN	RAD50	HGNC	C9JNH8_HUMAN,A8K3I2_HUMAN	.	UPI000006E9ED	SNV	RAD50,missense_variant,p.Arg3Gly,ENST00000453394,;RAD50,missense_variant,p.Arg3Gly,ENST00000265335,;RAD50,5_prime_UTR_variant,,ENST00000378823,;RAD50,intron_variant,,ENST00000416135,;IL5,upstream_gene_variant,,ENST00000450655,;RAD50,missense_variant,p.Arg3Gly,ENST00000533482,;RAD50,missense_variant,p.Arg3Gly,ENST00000423956,;	394	157	166	SUCCESS
PCDHGA1	56114	.	GRCh37	5	140711458	140711458	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	88	0	ENST00000517417.1:c.1207C>T	p.Arg403Cys	p.R403C	ENST00000517417	NM_018912.2	403	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS54922.1	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACCGTTTA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF108,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000431083	.	1/4	.	.	.	.	.	.	.	.	COSM294679,COSM294680	1/4	PASS	ENST00000517417	Transcript	.	.	ENSG00000204956	8696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.159)	.	deleterious_low_confidence(0.02)	1,1	PCDG1_HUMAN	PCDHGA1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070596	SNV	PCDHGA1,missense_variant,p.Arg403Cys,ENST00000517417,;PCDHGA1,missense_variant,p.Arg403Cys,ENST00000378105,;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	1207	88	93	SUCCESS
PDGFRB	5159	.	GRCh37	5	149504387	149504387	+	synonymous_variant	Silent	SNP	G	G	A	rs759476126	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	20	0	ENST00000261799.4:c.1815C>T	p.Thr605=	p.T605=	ENST00000261799	NM_002609.3	605	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4303.1	1815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGGGTGCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,Superfamily_domains:SSF56112	.	.	ENSP00000261799	.	13/23	.	.	.	.	.	.	.	.	rs759476126	13/23	PASS	ENST00000261799	Transcript	1	.	ENSG00000113721	8804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGFRB_HUMAN	PDGFRB	HGNC	E5RJ14_HUMAN,E5RII0_HUMAN	.	UPI0000131791	SNV	PDGFRB,synonymous_variant,p.%3D,ENST00000261799,;PDGFRB,upstream_gene_variant,,ENST00000521723,;PDGFRB,upstream_gene_variant,,ENST00000519575,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,non_coding_transcript_exon_variant,,ENST00000520229,;	2285	20	24	SUCCESS
RXFP3	51289	.	GRCh37	5	33937055	33937055	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	6	86	0	ENST00000330120.3:c.210G>A	p.Gly70=	p.G70=	ENST00000330120	NM_016568.3	70	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3900.1	210	MUTECT|MUSE	.	GGCGGGGCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF48	.	.	ENSP00000328708	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330120	Transcript	.	.	ENSG00000182631	24883	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RL3R1_HUMAN	RXFP3	HGNC	.	.	UPI0000046AEB	SNV	RXFP3,synonymous_variant,p.%3D,ENST00000330120,;	565	86	98	SUCCESS
PRDM13	59336	.	GRCh37	6	100061211	100061211	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770384917	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	40	0	ENST00000369215.4:c.700G>A	p.Ala234Thr	p.A234T	ENST00000369215	NM_021620.3	234	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43487.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCGCCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228	.	.	ENSP00000358217	.	4/4	.	.	.	.	.	.	.	.	rs770384917	4/4	PASS	ENST00000369215	Transcript	.	.	ENSG00000112238	13998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.04)	.	PRD13_HUMAN	PRDM13	HGNC	Q7Z5E7_HUMAN	.	UPI000047099D	SNV	PRDM13,missense_variant,p.Ala234Thr,ENST00000369215,;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	1005	40	49	SUCCESS
FIG4	9896	.	GRCh37	6	110085143	110085143	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1478560628	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	50	82	0	ENST00000230124.3:c.1392G>A	p.Trp464Ter	p.W464*	ENST00000230124	NM_014845.5	464	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS5078.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGAATGA	NONE	.	.	PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9	.	.	ENSP00000230124	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,stop_gained,p.Trp187Ter,ENST00000441478,;FIG4,stop_gained,p.Trp464Ter,ENST00000230124,;FIG4,upstream_gene_variant,,ENST00000415980,;	1516	82	125	SUCCESS
THEMIS	387357	.	GRCh37	6	128134119	128134119	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752223518	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	73	0	ENST00000368248.2:c.1667G>A	p.Arg556His	p.R556H	ENST00000368248	NM_001010923.2	556	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS55056.1	1667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	rs752223518	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,missense_variant,p.Arg477His,ENST00000368250,;THEMIS,missense_variant,p.Arg556His,ENST00000368248,;THEMIS,missense_variant,p.Arg556His,ENST00000543064,;THEMIS,missense_variant,p.Arg521His,ENST00000537166,;THEMIS,downstream_gene_variant,,ENST00000434358,;	1816	73	91	SUCCESS
THEMIS	387357	.	GRCh37	6	128135074	128135074	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	rs868167768	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	56	0	ENST00000368248.2:c.712C>T	p.Arg238Ter	p.R238*	ENST00000368248	NM_001010923.2	238	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS55056.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCGAACTA	SITE|p.R238*|c.712C>T|3	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1,Pfam_domain:PF12736	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	COSM1073044,COSM1545029,COSM3928070	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,stop_gained,p.Arg159Ter,ENST00000368250,;THEMIS,stop_gained,p.Arg238Ter,ENST00000368248,;THEMIS,stop_gained,p.Arg238Ter,ENST00000543064,;THEMIS,stop_gained,p.Arg6Ter,ENST00000434358,;THEMIS,stop_gained,p.Arg203Ter,ENST00000537166,;	861	56	57	SUCCESS
PRRC2A	7916	.	GRCh37	6	31600194	31600194	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	52	0	ENST00000376007.4:c.3744T>G	p.Ala1248=	p.A1248=	ENST00000376007	NM_080686.2	1248	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS4708.1	3744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCTCAGCA	NONE	.	.	hmmpanther:PTHR14038	.	.	ENSP00000365201	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000376033	Transcript	.	.	ENSG00000204469	13918	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRC2A_HUMAN	PRRC2A	HGNC	.	.	UPI000020E56F	SNV	PRRC2A,synonymous_variant,p.%3D,ENST00000376033,;PRRC2A,synonymous_variant,p.%3D,ENST00000376007,;PRRC2A,upstream_gene_variant,,ENST00000462617,;PRRC2A,upstream_gene_variant,,ENST00000482441,;PRRC2A,upstream_gene_variant,,ENST00000460302,;PRRC2A,upstream_gene_variant,,ENST00000487089,;PRRC2A,upstream_gene_variant,,ENST00000469501,;PRRC2A,upstream_gene_variant,,ENST00000487839,;PRRC2A,upstream_gene_variant,,ENST00000484787,;PRRC2A,upstream_gene_variant,,ENST00000492691,;PRRC2A,downstream_gene_variant,,ENST00000483470,;	3978	52	63	SUCCESS
NYAP1	222950	.	GRCh37	7	100086313	100086313	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	18	95	0	ENST00000300179.2:c.974del	p.Pro325ArgfsTer106	p.P325Rfs*106	ENST00000300179	NM_173564.3	323	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS5696.1	969	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAATCCCCCC	NONE	.	.	hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	.	.	ENSP00000300179	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	deletion	NYAP1,frameshift_variant,p.Pro268ArgfsTer106,ENST00000454988,;NYAP1,frameshift_variant,p.Pro325ArgfsTer106,ENST00000423930,;NYAP1,frameshift_variant,p.Pro325ArgfsTer106,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	1128	95	106	SUCCESS
TFEC	22797	.	GRCh37	7	115624534	115624534	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	78	0	ENST00000265440.7:c.-39C>T		p.*13*	ENST00000265440	NM_012252.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5762.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGAGGCC	NONE	.	.	.	.	.	ENSP00000265440	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000265440	Transcript	.	.	ENSG00000105967	11754	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFEC_HUMAN	TFEC	HGNC	Q75MG2_HUMAN,Q75KY0_HUMAN	.	UPI000006CC81	SNV	TFEC,stop_gained,p.Gln78Ter,ENST00000484212,;TFEC,5_prime_UTR_variant,,ENST00000320239,;TFEC,5_prime_UTR_variant,,ENST00000393485,;TFEC,5_prime_UTR_variant,,ENST00000265440,;	143	78	77	SUCCESS
RBM28	55131	.	GRCh37	7	127979340	127979340	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	52	0	ENST00000223073.2:c.313A>G	p.Lys105Glu	p.K105E	ENST00000223073	NM_018077.2	105	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS5801.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTAGCCT	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:3.30.70.330,hmmpanther:PTHR24622:SF163,hmmpanther:PTHR24622	.	.	ENSP00000223073	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000223073	Transcript	.	.	ENSG00000106344	21863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	deleterious(0)	.	RBM28_HUMAN	RBM28	HGNC	.	.	UPI000006FFF1	SNV	RBM28,missense_variant,p.Lys105Glu,ENST00000478061,;RBM28,missense_variant,p.Lys139Glu,ENST00000459726,;RBM28,missense_variant,p.Lys105Glu,ENST00000223073,;RBM28,intron_variant,,ENST00000415472,;RNU7-27P,upstream_gene_variant,,ENST00000459281,;RBM28,upstream_gene_variant,,ENST00000488249,;RBM28,upstream_gene_variant,,ENST00000487602,;	428	52	46	SUCCESS
ABCB5	340273	.	GRCh37	7	20689688	20689688	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771934899	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	22	82	0	ENST00000404938.2:c.1250T>A	p.Val417Asp	p.V417D	ENST00000404938	NM_001163941.1	417	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS55090.1	1250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGTCGCCT	NONE	.	.	PROSITE_profiles:PS50893,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000384881	.	12/28	.	.	.	.	.	.	.	.	rs771934899	12/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious(0)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Val417Asp,ENST00000404938,;ABCB5,5_prime_UTR_variant,,ENST00000443026,;ABCB5,5_prime_UTR_variant,,ENST00000258738,;ABCB5,5_prime_UTR_variant,,ENST00000406935,;ABCB5,non_coding_transcript_exon_variant,,ENST00000477094,;	1902	82	106	SUCCESS
RASA4CP	401331	.	GRCh37	7	44070385	44070385	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	63	0	ENST00000446874.1:n.618G>T		p.*206*	ENST00000446874				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|VARSCANS	.	CACAGCATGGC	NONE	.	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000446874	Transcript	.	.	ENSG00000228903	44185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RASA4CP	HGNC	.	.	.	SNV	RASA4CP,non_coding_transcript_exon_variant,,ENST00000446874,;RASA4CP,non_coding_transcript_exon_variant,,ENST00000425524,;RASA4CP,non_coding_transcript_exon_variant,,ENST00000545716,;RASA4CP,non_coding_transcript_exon_variant,,ENST00000424092,;	618	63	70	SUCCESS
KDELR2	11014	.	GRCh37	7	6509351	6509351	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	17	142	0	ENST00000258739.4:c.227A>G	p.Tyr76Cys	p.Y76C	ENST00000258739	NM_006854.3	76	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5351.1	227	MUTECT|MUSE	.	TCAGGTACACT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10585:SF6,hmmpanther:PTHR10585,Pfam_domain:PF00810	.	.	ENSP00000258739	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000258739	Transcript	.	.	ENSG00000136240	6305	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	deleterious(0.01)	.	ERD22_HUMAN	KDELR2	HGNC	.	.	UPI000012A0CC	SNV	KDELR2,missense_variant,p.Tyr76Cys,ENST00000490996,;KDELR2,missense_variant,p.Tyr76Cys,ENST00000258739,;DAGLB,intron_variant,,ENST00000436575,;KDELR2,intron_variant,,ENST00000463747,;KDELR2,3_prime_UTR_variant,,ENST00000382267,;KDELR2,non_coding_transcript_exon_variant,,ENST00000454368,;KDELR2,downstream_gene_variant,,ENST00000462052,;	412	142	224	SUCCESS
CYP11B1	1584	.	GRCh37	8	143961168	143961168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	45	0	ENST00000292427.4:c.62C>T	p.Ala21Val	p.A21V	ENST00000292427	NM_000497.3	21	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6392.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGCCCTT	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279	.	.	ENSP00000292427	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000292427	Transcript	1	.	ENSG00000160882	2591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.21)	.	C11B1_HUMAN	CYP11B1	HGNC	Q8TE40_HUMAN,Q8TE38_HUMAN	.	UPI000013E0BA	SNV	CYP11B1,missense_variant,p.Ala21Val,ENST00000517471,;CYP11B1,missense_variant,p.Ala21Val,ENST00000292427,;CYP11B1,missense_variant,p.Ala21Val,ENST00000377675,;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	95	45	94	SUCCESS
IMPAD1	0	.	GRCh37	8	57906212	57906212	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs983944939	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	250	7	154	1	ENST00000262644.4:c.-68G>T		p.*23*	ENST00000262644	NM_017813.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6169.1	.	MUTECT|MUSE	.	GCCGCCGCAGC	NONE	.	.	.	.	.	ENSP00000262644	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000262644	Transcript	1	.	ENSG00000104331	26019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMPA3_HUMAN	IMPAD1	HGNC	.	.	UPI000006DE7A	SNV	IMPAD1,5_prime_UTR_variant,,ENST00000262644,;IMPAD1,upstream_gene_variant,,ENST00000517461,;	192	155	257	SUCCESS
RNF128	79589	.	GRCh37	X	105970508	105970508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	42	208	0	ENST00000255499.2:c.365G>A	p.Arg122His	p.R122H	ENST00000255499	NM_194463.1	122	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14521.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGCGGCG	NONE	.	.	Superfamily_domains:SSF52025,Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22765:SF30,hmmpanther:PTHR22765	.	.	ENSP00000255499	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000255499	Transcript	.	.	ENSG00000133135	21153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RN128_HUMAN	RNF128	HGNC	A0PJI4_HUMAN	.	UPI0000046A7A	SNV	RNF128,missense_variant,p.Arg122His,ENST00000255499,;RNF128,intron_variant,,ENST00000418562,;RNF128,intron_variant,,ENST00000324342,;	615	208	158	SUCCESS
STAG2	10735	.	GRCh37	X	123205074	123205074	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	82	0	ENST00000218089.9:c.2434C>T	p.Pro812Ser	p.P812S	ENST00000218089	NM_001042749.1	812	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43990.1	2434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGCCATTA	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3,Superfamily_domains:SSF48371	.	.	ENSP00000218089	.	25/35	.	.	.	.	.	.	.	.	.	25/35	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.34)	.	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	SNV	STAG2,missense_variant,p.Pro743Ser,ENST00000354548,;STAG2,missense_variant,p.Pro812Ser,ENST00000371157,;STAG2,missense_variant,p.Pro812Ser,ENST00000371144,;STAG2,missense_variant,p.Pro812Ser,ENST00000371160,;STAG2,missense_variant,p.Pro812Ser,ENST00000371145,;STAG2,missense_variant,p.Pro812Ser,ENST00000218089,;STAG2,intron_variant,,ENST00000469481,;	2944	82	72	SUCCESS
MIR513B	100313822	.	GRCh37	X	146280593	146280593	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	290	169	645	0	ENST00000385136.2:n.53T>C		p.*18*	ENST00000385136				0	.	.	.	.	.	G	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACATTTAT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385136	Transcript	.	.	ENSG00000207871	33935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR513B	HGNC	.	.	.	SNV	MIR513B,non_coding_transcript_exon_variant,,ENST00000385136,;	53	646	460	SUCCESS
AFF2	2334	.	GRCh37	X	147919196	147919196	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	77	0	ENST00000370460.2:c.1112C>T	p.Pro371Leu	p.P371L	ENST00000370460	NM_002025.3	371	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS14684.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCCTCTCA	NONE	.	.	hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.095)	.	deleterious(0)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Pro371Leu,ENST00000370460,;AFF2,intron_variant,,ENST00000342251,;AFF2,intron_variant,,ENST00000286437,;AFF2,intron_variant,,ENST00000370457,;AFF2,intron_variant,,ENST00000370458,;	1591	77	59	SUCCESS
FAM47A	158724	.	GRCh37	X	34149816	34149816	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs775173336	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	100	0	ENST00000346193.3:c.580A>G	p.Thr194Ala	p.T194A	ENST00000346193	NM_203408.3	194	Act/Gct	0	.	G:0	.	G:0	.	C	T/A	protein_coding	YES	CCDS43926.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGTCTCGG	NONE	by1000G	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	G:0.001	.	ENSP00000345029	G:0	1/1	.	.	.	.	.	.	.	.	rs775173336	1/1	PASS	ENST00000346193	Transcript	.	G:0.0003	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	G:0	tolerated(0.34)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Thr194Ala,ENST00000346193,;	632	100	76	SUCCESS
NYX	60506	.	GRCh37	X	41307091	41307091	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	74	0	ENST00000342595.2:c.-52T>A		p.*18*	ENST00000342595	NM_022567.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14256.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTCTCCC	NONE	.	.	.	.	.	ENSP00000340328	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000342595	Transcript	.	.	ENSG00000188937	8082	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NYX_HUMAN	NYX	HGNC	.	.	UPI0000130B37	SNV	NYX,5_prime_UTR_variant,,ENST00000342595,;NYX,intron_variant,,ENST00000378220,;	405	74	60	SUCCESS
KIAA2022	0	.	GRCh37	X	73960698	73960698	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	4	125	0	ENST00000055682.6:c.3694A>T	p.Ile1232Phe	p.I1232F	ENST00000055682	NM_001008537.2	1232	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS35337.1	3694	MUTECT|MUSE	.	ATTGATGGCAG	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.126)	.	tolerated(0.1)	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,missense_variant,p.Ile1232Phe,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	4306	125	101	SUCCESS
KLHL4	56062	.	GRCh37	X	86887268	86887268	+	synonymous_variant	Silent	SNP	C	C	T	rs753516770	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	27	259	0	ENST00000373119.4:c.1383C>T	p.Thr461=	p.T461=	ENST00000373119	NM_019117.4	461	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS14456.1	1383	RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCATGAA	NONE	byFrequency	.	Superfamily_domains:0052715,SMART_domains:SM00612,Pfam_domain:PF01344,Gene3D:1k3iA02,hmmpanther:PTHR24412:SF74,hmmpanther:PTHR24412	.	.	ENSP00000362206	.	7/11	.	.	.	.	.	.	.	.	rs753516770	7/11	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,synonymous_variant,p.%3D,ENST00000373114,;KLHL4,synonymous_variant,p.%3D,ENST00000373119,;	1463	259	189	SUCCESS
OGDHL	55753	.	GRCh37	10	50950948	50950948	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	33	0	ENST00000374103.4:c.1938G>T	p.Met646Ile	p.M646I	ENST00000374103	NM_018245.2	646	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7234.1	1938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCATGTA	NONE	.	.	Superfamily_domains:SSF52518,PIRSF_domain:PIRSF000157,SMART_domains:SM00861,Pfam_domain:PF02779,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF5,hmmpanther:PTHR23152	.	.	ENSP00000363216	.	15/23	.	.	.	.	.	.	.	.	COSM1675228	15/23	PASS	ENST00000374103	Transcript	.	.	ENSG00000197444	25590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.008)	.	deleterious(0.03)	1	OGDHL_HUMAN	OGDHL	HGNC	.	.	UPI000013D6A4	SNV	OGDHL,missense_variant,p.Met437Ile,ENST00000432695,;OGDHL,missense_variant,p.Met589Ile,ENST00000419399,;OGDHL,missense_variant,p.Met646Ile,ENST00000374103,;OGDHL,upstream_gene_variant,,ENST00000490844,;OGDHL,downstream_gene_variant,,ENST00000496884,;	2024	33	50	SUCCESS
ZNF202	7753	.	GRCh37	11	123600489	123600489	+	synonymous_variant	Silent	SNP	C	C	T	rs772780549	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	37	0	ENST00000336139.4:c.447G>A	p.Thr149=	p.T149=	ENST00000336139		149	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS8443.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCGTCTC	NONE	byFrequency	.	SMART_domains:SM00431,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	.	.	ENSP00000337724	.	4/8	.	.	.	.	.	.	.	.	rs772780549	4/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,synonymous_variant,p.%3D,ENST00000529691,;ZNF202,synonymous_variant,p.%3D,ENST00000336139,;ZNF202,synonymous_variant,p.%3D,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	810	37	48	SUCCESS
HYLS1	219844	.	GRCh37	11	125769758	125769758	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	41	83	1	ENST00000356438.3:c.495A>G	p.Gln165=	p.Q165=	ENST00000356438	NM_145014.2	165	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS8467.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAAGATCA	NONE	.	.	Prints_domain:PR02098	.	.	ENSP00000414884	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000425380	Transcript	.	.	ENSG00000198331	26558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYLS1_HUMAN	HYLS1	HGNC	.	.	UPI000006DF2D	SNV	HYLS1,synonymous_variant,p.%3D,ENST00000356438,;HYLS1,synonymous_variant,p.%3D,ENST00000425380,;HYLS1,synonymous_variant,p.%3D,ENST00000526028,;PUS3,intron_variant,,ENST00000227474,;PUS3,intron_variant,,ENST00000529801,;PUS3,intron_variant,,ENST00000534158,;DDX25,upstream_gene_variant,,ENST00000530414,;PUS3,upstream_gene_variant,,ENST00000530811,;DDX25,upstream_gene_variant,,ENST00000530129,;DDX25,upstream_gene_variant,,ENST00000263576,;RP11-680F20.9,downstream_gene_variant,,ENST00000533033,;DDX25,upstream_gene_variant,,ENST00000525943,;	1276	84	94	SUCCESS
DCDC1	341019	.	GRCh37	11	31312362	31312362	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	78	167	0	ENST00000452803.1:c.792G>A	p.Met264Ile	p.M264I	ENST00000452803	NM_181807.3	264	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7872.1	792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCATTGT	NONE	.	.	hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF21	.	.	ENSP00000389792	.	7/9	.	.	.	.	.	.	.	.	COSM3446738	7/9	PASS	ENST00000452803	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.234)	.	tolerated(0.06)	1	DCDC1_HUMAN	DCDC1	HGNC	.	.	UPI00001F9F1E	SNV	DCDC1,missense_variant,p.Met264Ile,ENST00000597505,;DCDC1,missense_variant,p.Met264Ile,ENST00000452803,;DCDC1,intron_variant,,ENST00000342355,;	994	167	185	SUCCESS
PGA5	5222	.	GRCh37	11	61017209	61017209	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1211675538	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	59	153	0	ENST00000312403.5:c.842C>G	p.Ser281Cys	p.S281C	ENST00000312403	NM_014224.2	281	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS8001.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCTCTGC	NONE	.	.	hmmpanther:PTHR13683:SF239,hmmpanther:PTHR13683,PROSITE_patterns:PS00141,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630,Prints_domain:PR00792	.	.	ENSP00000309542	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000312403	Transcript	.	.	ENSG00000256713	8887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PEPA5_HUMAN	PGA5	HGNC	F5GWT0_HUMAN	.	UPI000006CE33	SNV	PGA5,missense_variant,p.Ser21Cys,ENST00000541528,;PGA5,missense_variant,p.Ser127Cys,ENST00000451616,;PGA5,missense_variant,p.Ser281Cys,ENST00000312403,;PGA4,missense_variant,p.Ser281Cys,ENST00000422676,;CTD-2331C18.5,downstream_gene_variant,,ENST00000537594,;PGA5,downstream_gene_variant,,ENST00000535568,;	1027	153	156	SUCCESS
ZNF143	7702	.	GRCh37	11	9522758	9522758	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	52	77	0	ENST00000396602.2:c.1088G>A	p.Gly363Glu	p.G363E	ENST00000396602	NM_003442.5	363	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS7799.2	1088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGATGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF362,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379847	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000396602	Transcript	.	.	ENSG00000166478	12928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	tolerated(0.07)	.	ZN143_HUMAN	ZNF143	HGNC	E9PPB0_HUMAN,E9PJF2_HUMAN,C9JTC5_HUMAN,C9JCG1_HUMAN,C9J2G7_HUMAN	.	UPI00001F9D01	SNV	ZNF143,missense_variant,p.Gly332Glu,ENST00000396597,;ZNF143,missense_variant,p.Gly363Glu,ENST00000396602,;ZNF143,missense_variant,p.Gly362Glu,ENST00000530463,;ZNF143,missense_variant,p.Gly362Glu,ENST00000396604,;ZNF143,missense_variant,p.Gly335Glu,ENST00000299606,;	1207	77	104	SUCCESS
ACACB	32	.	GRCh37	12	109614034	109614034	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	49	112	0	ENST00000338432.7:c.1403A>T	p.Glu468Val	p.E468V	ENST00000338432		468	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS31898.1	1403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGAGAGTG	NONE	.	.	PROSITE_profiles:PS50979,PROSITE_profiles:PS50975,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Pfam_domain:PF02786,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059	.	.	ENSP00000341044	.	9/53	.	.	.	.	.	.	.	.	.	9/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.351)	.	tolerated(0.06)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Glu468Val,ENST00000377854,;ACACB,missense_variant,p.Glu468Val,ENST00000377848,;ACACB,missense_variant,p.Glu468Val,ENST00000338432,;ACACB,downstream_gene_variant,,ENST00000544726,;ACACB,non_coding_transcript_exon_variant,,ENST00000543080,;	1522	112	136	SUCCESS
FGD4	121512	.	GRCh37	12	32751494	32751494	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs528790143	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	84	0	ENST00000427716.2:c.664G>A	p.Val222Ile	p.V222I	ENST00000427716	NM_139241.2	222	Gtc/Atc	0	.	A:0	.	A:0	.	A	V/I	protein_coding	YES	CCDS8727.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATGTCAAC	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	A:0	.	ENSP00000394487	A:0	5/17	.	.	.	.	.	.	.	.	rs528790143	5/17	common_in_exac	ENST00000427716	Transcript	.	A:0.0004	ENSG00000139132	19125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0.002	deleterious(0.02)	.	FGD4_HUMAN	FGD4	HGNC	J3KSS3_HUMAN,F8W1R0_HUMAN	.	UPI000004CCA6	SNV	FGD4,missense_variant,p.Val129Ile,ENST00000546442,;FGD4,missense_variant,p.Val307Ile,ENST00000531134,;FGD4,missense_variant,p.Val222Ile,ENST00000427716,;FGD4,missense_variant,p.Val334Ile,ENST00000525053,;FGD4,missense_variant,p.Val359Ile,ENST00000534526,;FGD4,5_prime_UTR_variant,,ENST00000381025,;FGD4,5_prime_UTR_variant,,ENST00000266482,;FGD4,missense_variant,p.Val52Ile,ENST00000494977,;FGD4,missense_variant,p.Val222Ile,ENST00000395740,;FGD4,missense_variant,p.Val222Ile,ENST00000493087,;FGD4,3_prime_UTR_variant,,ENST00000551984,;	1088	84	90	SUCCESS
A2M	2	.	GRCh37	12	9227372	9227384	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AGAGTTGTCTTAA	AGAGTTGTCTTAA	-	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	AGAGTTGTCTTAA	AGAGTTGTCTTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	65	41	111	0	ENST00000318602.7:c.3533-5_3540del		p.X1178_splice	ENST00000318602	NM_000014.4	1178		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44827.1	?-3540	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGGACAGAGTTGTCTTAAAGATG	NONE	.	.	.	.	.	ENSP00000323929	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	HIGH	28/35	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	deletion	A2M,splice_acceptor_variant,,ENST00000318602,;A2M,intron_variant,,ENST00000543436,;A2M,intron_variant,,ENST00000545828,;A2M,downstream_gene_variant,,ENST00000542567,;	?-3848	111	106	SUCCESS
PCCA	5095	.	GRCh37	13	100861682	100861682	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	41	85	0	ENST00000376285.1:c.565G>T	p.Val189Phe	p.V189F	ENST00000376285	NM_000282.3	189	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9496.2	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGTTAAT	NONE	.	.	PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866,Gene3D:3.40.50.20,Pfam_domain:PF02786,Superfamily_domains:SSF56059	.	.	ENSP00000365462	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000376285	Transcript	.	.	ENSG00000175198	8653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PCCA_HUMAN	PCCA	HGNC	.	.	UPI0000070089	SNV	PCCA,missense_variant,p.Val163Phe,ENST00000376286,;PCCA,missense_variant,p.Val189Phe,ENST00000376279,;PCCA,missense_variant,p.Val189Phe,ENST00000376285,;	603	85	102	SUCCESS
VWA8	23078	.	GRCh37	13	42535158	42535158	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	rs775896167	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	24	0	ENST00000379310.3:c.-7del		p.*3*	ENST00000379310	NM_015058.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41881.1	.	VARSCANI*|PINDEL	.	GGCGCCGGGGGG	NONE	byFrequency	.	.	.	.	ENSP00000368612	.	1/45	.	.	.	.	.	.	.	.	rs760911329	1/45	PASS	ENST00000379310	Transcript	.	.	ENSG00000102763	29071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VWA8_HUMAN	VWA8	HGNC	.	.	UPI00001606AC	deletion	VWA8,5_prime_UTR_variant,,ENST00000281496,;VWA8,5_prime_UTR_variant,,ENST00000379310,;	63	24	28	SUCCESS
TEP1	7011	.	GRCh37	14	20852626	20852626	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201494870	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	40	0	ENST00000262715.5:c.3263A>G	p.Tyr1088Cys	p.Y1088C	ENST00000262715	NM_007110.4	1088	tAt/tGt	0	C:0	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9548.1	3263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATAGGGC	NONE	byCluster	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402	.	C:0.0003	ENSP00000262715	.	23/55	.	.	.	.	.	.	.	.	rs201494870	23/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	deleterious(0.02)	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Tyr980Cys,ENST00000556935,;TEP1,missense_variant,p.Tyr1088Cys,ENST00000262715,;TEP1,upstream_gene_variant,,ENST00000545983,;TEP1,missense_variant,p.Tyr1088Cys,ENST00000555727,;TEP1,missense_variant,p.Tyr438Cys,ENST00000555008,;TEP1,upstream_gene_variant,,ENST00000557314,;	3304	40	56	SUCCESS
ZNF219	51222	.	GRCh37	14	21561409	21561409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	23	0	ENST00000360947.3:c.47C>T	p.Ser16Leu	p.S16L	ENST00000360947	NM_016423.2	16	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS9568.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGACGGC	NONE	.	.	hmmpanther:PTHR23233,Prints_domain:PR01471	.	.	ENSP00000354206	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000360947	Transcript	.	.	ENSG00000165804	13011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	deleterious_low_confidence(0)	.	ZN219_HUMAN	ZNF219	HGNC	G3V4T1_HUMAN,G3V452_HUMAN,G3V2W3_HUMAN,G3V2Q8_HUMAN,G3V2E3_HUMAN	.	UPI000013E507	SNV	ZNF219,missense_variant,p.Ser16Leu,ENST00000360947,;ZNF219,missense_variant,p.Ser16Leu,ENST00000451119,;ZNF219,missense_variant,p.Ser16Leu,ENST00000553296,;ZNF219,missense_variant,p.Ser53Leu,ENST00000554923,;ZNF219,missense_variant,p.Ser16Leu,ENST00000421093,;ZNF219,missense_variant,p.Ser16Leu,ENST00000556174,;ZNF219,missense_variant,p.Ser16Leu,ENST00000555697,;ZNF219,missense_variant,p.Ser16Leu,ENST00000555270,;ZNF219,missense_variant,p.Ser62Leu,ENST00000554478,;ZNF219,5_prime_UTR_variant,,ENST00000553980,;ARHGEF40,downstream_gene_variant,,ENST00000298694,;ARHGEF40,downstream_gene_variant,,ENST00000298693,;RP11-998D10.7,downstream_gene_variant,,ENST00000554733,;ZNF219,downstream_gene_variant,,ENST00000556101,;ZNF219,non_coding_transcript_exon_variant,,ENST00000556944,;ARHGEF40,downstream_gene_variant,,ENST00000557498,;ARHGEF40,downstream_gene_variant,,ENST00000556399,;ARHGEF40,downstream_gene_variant,,ENST00000553709,;ARHGEF40,downstream_gene_variant,,ENST00000554514,;	459	23	17	SUCCESS
ARHGAP5	394	.	GRCh37	14	32562464	32562464	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	67	184	1	ENST00000345122.3:c.2589G>A	p.Met863Ile	p.M863I	ENST00000345122	NM_001030055.1	863	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS32062.1	2589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGATGGGAAT	NONE	.	.	hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4	.	.	ENSP00000371897	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000345122	Transcript	.	.	ENSG00000100852	675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.12)	.	RHG05_HUMAN	ARHGAP5	HGNC	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN	.	UPI000057B85C	SNV	ARHGAP5,missense_variant,p.Met863Ile,ENST00000432921,;ARHGAP5,missense_variant,p.Met863Ile,ENST00000539826,;ARHGAP5,missense_variant,p.Met863Ile,ENST00000345122,;ARHGAP5,missense_variant,p.Met863Ile,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	2904	185	155	SUCCESS
EML5	161436	.	GRCh37	14	89202828	89202828	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	79	158	0	ENST00000380664.5:c.929T>C	p.Val310Ala	p.V310A	ENST00000380664		310	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS45148.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCACCACA	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	7/44	.	.	.	.	.	.	.	.	.	7/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	tolerated(0.13)	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	SNV	EML5,missense_variant,p.Val310Ala,ENST00000352093,;EML5,missense_variant,p.Val310Ala,ENST00000554922,;EML5,missense_variant,p.Val310Ala,ENST00000380664,;	1178	158	184	SUCCESS
RYR3	6263	.	GRCh37	15	34021159	34021159	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	80	0	ENST00000389232.4:c.7135A>G	p.Thr2379Ala	p.T2379A	ENST00000389232	NM_001036.3	2379	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS45210.1	7135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAACTTTT	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	47/104	.	.	.	.	.	.	.	.	.	47/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Thr2379Ala,ENST00000389232,;RYR3,missense_variant,p.Thr2379Ala,ENST00000415757,;	7205	80	56	SUCCESS
KIAA1024	0	.	GRCh37	15	79750565	79750565	+	synonymous_variant	Silent	SNP	A	A	G	rs781347392	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	103	1	ENST00000305428.3:c.2076A>G	p.Glu692=	p.E692=	ENST00000305428	NM_015206.2	692	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS32306.1	2076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAAAGCCT	NONE	.	.	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2	.	.	ENSP00000307461	.	2/4	.	.	.	.	.	.	.	.	rs781347392	2/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,synonymous_variant,p.%3D,ENST00000305428,;KIAA1024,synonymous_variant,p.%3D,ENST00000559272,;	2151	105	80	SUCCESS
AXIN1	8312	.	GRCh37	16	396740	396740	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	19	51	0	ENST00000262320.3:c.286C>T	p.Gln96Ter	p.Q96*	ENST00000262320	NM_003502.3	96	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS10405.1	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGGTCAT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Gene3D:1.10.196.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Gln96Ter,ENST00000262320,;AXIN1,stop_gained,p.Gln96Ter,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;	658	51	26	SUCCESS
KRT17	3872	.	GRCh37	17	39777023	39777023	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374932182	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	128	0	ENST00000311208.8:c.1069C>T	p.Arg357Cys	p.R357C	ENST00000311208	NM_000422.2	357	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS11402.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGAAGCT	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF91,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	A:0.0001	ENSP00000308452	.	6/8	.	.	.	.	.	.	.	.	rs374932182,COSM1520960	6/8	PASS	ENST00000311208	Transcript	.	.	ENSG00000128422	6427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.114)	.	deleterious(0)	0,1	K1C17_HUMAN	KRT17	HGNC	K7ESE1_HUMAN,B4E2P9_HUMAN	.	UPI0000148FD6	SNV	JUP,missense_variant,p.Arg516Cys,ENST00000540235,;KRT17,missense_variant,p.Arg357Cys,ENST00000311208,;KRT17,downstream_gene_variant,,ENST00000577817,;KRT16,upstream_gene_variant,,ENST00000590990,;KRT17,downstream_gene_variant,,ENST00000590038,;KRT17,downstream_gene_variant,,ENST00000463128,;KRT17,non_coding_transcript_exon_variant,,ENST00000493253,;KRT17,downstream_gene_variant,,ENST00000491673,;	1137	128	123	SUCCESS
ITGB3	3690	.	GRCh37	17	45367587	45367591	+	frameshift_variant	Frame_Shift_Del	DEL	GTTCT	GTTCT	-	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	GTTCT	GTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	67	0	ENST00000559488.1:c.1074_1078del	p.Leu359HisfsTer12	p.L359Hfs*12	ENST00000559488	NM_000212.2	358	GTTCTg/g	0	.	.	.	.	.	-	VL/X	protein_coding	YES	CCDS11511.1	1072-1076	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGGGGTTCTGTCCA	NONE	.	.	hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	.	.	ENSP00000452786	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000559488	Transcript	.	.	ENSG00000259207	6156	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITB3_HUMAN	ITGB3	HGNC	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN	.	UPI000013D240	deletion	ITGB3,frameshift_variant,p.Leu312HisfsTer12,ENST00000435993,;ITGB3,frameshift_variant,p.Leu359HisfsTer12,ENST00000571680,;ITGB3,frameshift_variant,p.Leu359HisfsTer12,ENST00000559488,;ITGB3,frameshift_variant,p.Leu348HisfsTer12,ENST00000560629,;ITGB3,upstream_gene_variant,,ENST00000573377,;	1088-1092	67	50	SUCCESS
SDK2	54549	.	GRCh37	17	71390374	71390374	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759143958	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	37	0	ENST00000392650.3:c.3682C>A	p.Arg1228Ser	p.R1228S	ENST00000392650	NM_001144952.1	1228	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS45769.1	3682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCGATCAG	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376421	.	26/45	.	.	.	.	.	.	.	.	rs759143958	26/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.02)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Arg404Ser,ENST00000424778,;SDK2,missense_variant,p.Arg1228Ser,ENST00000388726,;SDK2,missense_variant,p.Arg1228Ser,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	3683	37	53	SUCCESS
RPTOR	57521	.	GRCh37	17	78919546	78919546	+	synonymous_variant	Silent	SNP	G	G	A	rs145803652	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	41	69	0	ENST00000306801.3:c.3105G>A	p.Thr1035=	p.T1035=	ENST00000306801	NM_020761.2	1035	acG/acA	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS11773.1	3105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGCCGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12848,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	A:0.0012	ENSP00000307272	.	26/34	.	.	.	.	.	.	.	.	rs145803652	26/34	common_in_exac	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,synonymous_variant,p.%3D,ENST00000544334,;RPTOR,synonymous_variant,p.%3D,ENST00000306801,;CTD-2561B21.4,upstream_gene_variant,,ENST00000576032,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,upstream_gene_variant,,ENST00000573163,;RPTOR,non_coding_transcript_exon_variant,,ENST00000573837,;	3467	69	85	SUCCESS
SLC38A10	124565	.	GRCh37	17	79257223	79257223	+	synonymous_variant	Silent	SNP	G	G	A	rs138694564	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	90	0	ENST00000374759.3:c.343C>T	p.Leu115=	p.L115=	ENST00000374759	NM_001037984.1	115	Ctg/Ttg	0	T:0.0002	.	.	.	.	A	L	protein_coding	YES	CCDS42397.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAGCCGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF199,Pfam_domain:PF01490	.	T:0.0001	ENSP00000363891	.	4/16	.	.	.	.	.	.	.	.	rs138694564	4/16	PASS	ENST00000374759	Transcript	.	.	ENSG00000157637	28237	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S38AA_HUMAN	SLC38A10	HGNC	F5H3T4_HUMAN	.	UPI000066DA6A	SNV	SLC38A10,synonymous_variant,p.%3D,ENST00000374759,;SLC38A10,synonymous_variant,p.%3D,ENST00000539748,;SLC38A10,synonymous_variant,p.%3D,ENST00000288439,;SLC38A10,upstream_gene_variant,,ENST00000543204,;SLC38A10,upstream_gene_variant,,ENST00000546352,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000542075,;	727	90	71	SUCCESS
MC4R	4160	.	GRCh37	18	58039334	58039334	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	85	0	ENST00000299766.3:c.249C>A	p.Ile83=	p.I83=	ENST00000299766	NM_005912.2	83	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11976.1	249	MUTECT|MUSE|VARSCANS	.	CTGCAGATGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,synonymous_variant,p.%3D,ENST00000299766,;	668	85	65	SUCCESS
CBLN2	147381	.	GRCh37	18	70209069	70209069	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	27	0	ENST00000269503.4:c.327C>T	p.Ser109=	p.S109=	ENST00000269503	NM_182511.3	109	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11999.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTTGCTCAT	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF50,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000269503	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000269503	Transcript	.	.	ENSG00000141668	1544	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLN2_HUMAN	CBLN2	HGNC	.	.	UPI0000032E73	SNV	CBLN2,synonymous_variant,p.%3D,ENST00000585159,;CBLN2,synonymous_variant,p.%3D,ENST00000269503,;CBLN2,intron_variant,,ENST00000584764,;CBLN2,intron_variant,,ENST00000581073,;CBLN2,intron_variant,,ENST00000583651,;CBLN2,downstream_gene_variant,,ENST00000580889,;CBLN2,upstream_gene_variant,,ENST00000581425,;	1101	27	31	SUCCESS
MBP	4155	.	GRCh37	18	74817196	74817196	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	95	0	ENST00000355994.2:c.22C>T	p.Arg8Ter	p.R8*	ENST00000355994	NM_001025101.1	8	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS42450.1	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGTTTGC	NONE	.	.	hmmpanther:PTHR11429,hmmpanther:PTHR11429:SF0	.	.	ENSP00000380958	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000397860	Transcript	.	.	ENSG00000197971	6925	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBP_HUMAN	MBP	HGNC	J3QKN5_HUMAN,J3KS94_HUMAN,E9PLU9_HUMAN	.	UPI000002ADA3	SNV	MBP,stop_gained,p.Arg8Ter,ENST00000583798,;MBP,stop_gained,p.Arg8Ter,ENST00000581878,;MBP,stop_gained,p.Arg8Ter,ENST00000397860,;MBP,stop_gained,p.Arg8Ter,ENST00000397863,;MBP,stop_gained,p.Arg8Ter,ENST00000355994,;MBP,stop_gained,p.Arg8Ter,ENST00000579129,;MBP,stop_gained,p.Arg8Ter,ENST00000580402,;MBP,non_coding_transcript_exon_variant,,ENST00000497479,;MBP,non_coding_transcript_exon_variant,,ENST00000490754,;MBP,non_coding_transcript_exon_variant,,ENST00000487778,;	237	95	79	SUCCESS
WIZ	58525	.	GRCh37	19	15538111	15538111	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779582177	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	76	0	ENST00000263381.7:c.763A>G	p.Lys255Glu	p.K255E	ENST00000263381	NM_021241.2	255	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS42516.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTTGGCCA	NONE	.	.	hmmpanther:PTHR24402:SF162,hmmpanther:PTHR24402	.	.	ENSP00000263381	.	4/8	.	.	.	.	.	.	.	.	rs779582177	4/8	PASS	ENST00000263381	Transcript	.	.	ENSG00000011451	30917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.07)	.	WIZ_HUMAN	WIZ	HGNC	M0QXF8_HUMAN	.	UPI000041F888	SNV	WIZ,missense_variant,p.Lys426Glu,ENST00000545156,;WIZ,missense_variant,p.Lys255Glu,ENST00000263381,;WIZ,missense_variant,p.Lys296Glu,ENST00000599686,;WIZ,missense_variant,p.Lys1112Glu,ENST00000389282,;WIZ,missense_variant,p.Lys429Glu,ENST00000599910,;WIZ,upstream_gene_variant,,ENST00000600632,;	977	76	72	SUCCESS
VSTM2B	342865	.	GRCh37	19	30054814	30054814	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs140018368	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	51	0	ENST00000335523.7:c.831G>C	p.Lys277Asn	p.K277N	ENST00000335523	NM_001146339.1	277	aaG/aaC	0	.	T:0.0008	.	T:0	.	C	K/N	protein_coding	YES	CCDS46034.1	831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAAGTTCCT	NONE	by1000G	.	Low_complexity_(Seg):seg	T:0	.	ENSP00000335038	T:0	5/5	.	.	.	.	.	.	.	.	rs140018368	5/5	PASS	ENST00000335523	Transcript	.	T:0.0002	ENSG00000187135	33595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	T:0	deleterious(0.01)	.	VTM2B_HUMAN	VSTM2B	HGNC	.	.	UPI00001D8158	SNV	VSTM2B,missense_variant,p.Lys277Asn,ENST00000335523,;	916	51	69	SUCCESS
KIRREL2	84063	.	GRCh37	19	36351887	36351887	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	29	37	0	ENST00000360202.5:c.1005G>A	p.Trp335Ter	p.W335*	ENST00000360202	NM_032123.5	335	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS12481.1	1005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGCGCGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000353331	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000360202	Transcript	.	.	ENSG00000126259	18816	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIRR2_HUMAN	KIRREL2	HGNC	.	.	UPI0000366DD8	SNV	KIRREL2,stop_gained,p.Trp335Ter,ENST00000592409,;KIRREL2,stop_gained,p.Trp335Ter,ENST00000262625,;KIRREL2,stop_gained,p.Trp335Ter,ENST00000360202,;KIRREL2,stop_gained,p.Trp285Ter,ENST00000347900,;KIRREL2,downstream_gene_variant,,ENST00000586102,;NPHS1,intron_variant,,ENST00000591817,;	1203	37	56	SUCCESS
CA11	770	.	GRCh37	19	49143044	49143044	+	splice_donor_variant	Splice_Site	SNP	C	C	T	.	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	41	87	0	ENST00000084798.4:c.567+1G>A		p.X189_splice	ENST00000084798	NM_001217.3	189		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12729.1	.	RADIA|MUTECT|MUSE	.	GCTCACGTTGA	NONE	.	.	.	.	.	ENSP00000084798	.	.	.	.	.	.	.	.	.	.	COSM1481297	.	PASS	ENST00000084798	Transcript	.	.	ENSG00000063180	1370	.	.	HIGH	5/8	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	CAH11_HUMAN	CA11	HGNC	.	.	UPI000004C652	SNV	CA11,splice_donor_variant,,ENST00000084798,;CA11,upstream_gene_variant,,ENST00000596080,;DBP,upstream_gene_variant,,ENST00000601104,;DBP,upstream_gene_variant,,ENST00000222122,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;CA11,upstream_gene_variant,,ENST00000594088,;DBP,upstream_gene_variant,,ENST00000594723,;CA11,upstream_gene_variant,,ENST00000599267,;SEC1P,intron_variant,,ENST00000521217,;	.	87	99	SUCCESS
PPP1R12C	54776	.	GRCh37	19	55604010	55604010	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	96	189	0	ENST00000263433.3:c.1932T>C	p.Ala644=	p.A644=	ENST00000263433	NM_017607.3	644	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS12916.1	1932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCAGCCGG	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF19	.	.	ENSP00000263433	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000263433	Transcript	.	.	ENSG00000125503	14947	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP12C_HUMAN	PPP1R12C	HGNC	.	.	UPI000006FEE1	SNV	PPP1R12C,synonymous_variant,p.%3D,ENST00000435544,;PPP1R12C,synonymous_variant,p.%3D,ENST00000263433,;PPP1R12C,synonymous_variant,p.%3D,ENST00000591938,;PPP1R12C,synonymous_variant,p.%3D,ENST00000592993,;PPP1R12C,synonymous_variant,p.%3D,ENST00000376393,;EPS8L1,downstream_gene_variant,,ENST00000586329,;EPS8L1,downstream_gene_variant,,ENST00000588359,;EPS8L1,downstream_gene_variant,,ENST00000245618,;EPS8L1,downstream_gene_variant,,ENST00000201647,;EPS8L1,downstream_gene_variant,,ENST00000540810,;EPS8L1,downstream_gene_variant,,ENST00000587901,;EPS8L1,downstream_gene_variant,,ENST00000592102,;PPP1R12C,upstream_gene_variant,,ENST00000590268,;EPS8L1,downstream_gene_variant,,ENST00000587715,;PPP1R12C,downstream_gene_variant,,ENST00000592754,;PPP1R12C,downstream_gene_variant,,ENST00000586197,;PPP1R12C,downstream_gene_variant,,ENST00000588277,;EPS8L1,downstream_gene_variant,,ENST00000589362,;	1948	189	209	SUCCESS
ZNF329	79673	.	GRCh37	19	58639289	58639289	+	synonymous_variant	Silent	SNP	G	G	T	rs143513293	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	37	92	0	ENST00000358067.4:c.1582C>A	p.Arg528=	p.R528=	ENST00000358067		528	Cga/Aga	0	A:0.0005	A:0.0015	.	A:0	.	T	R	protein_coding	YES	CCDS12972.1	1582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCGAACAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF118,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0	A:0.0001	ENSP00000470008	A:0	4/4	.	.	.	.	.	.	.	.	rs143513293,COSM1397273	4/4	PASS	ENST00000598312	Transcript	.	A:0.0004	ENSG00000181894	14209	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	ZN329_HUMAN	ZNF329	HGNC	M0R136_HUMAN	.	UPI0000246E79	SNV	ZNF329,synonymous_variant,p.%3D,ENST00000598312,;ZNF329,synonymous_variant,p.%3D,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,synonymous_variant,p.%3D,ENST00000500161,;ZNF329,synonymous_variant,p.%3D,ENST00000597186,;	1816	92	110	SUCCESS
ITLN2	142683	.	GRCh37	1	160920427	160920427	+	synonymous_variant	Silent	SNP	A	A	G	rs143503379	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	36	78	0	ENST00000368029.3:c.516T>C	p.His172=	p.H172=	ENST00000368029	NM_080878.2	172	caT/caC	0	G:0	G:0.0008	.	G:0	.	G	H	protein_coding	YES	CCDS1212.1	516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAATGCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF21,Superfamily_domains:SSF56496	G:0	G:0.0005	ENSP00000357008	G:0.001	5/8	.	.	.	.	.	.	.	.	rs143503379	5/8	common_in_exac	ENST00000368029	Transcript	.	G:0.0004	ENSG00000158764	20599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ITLN2_HUMAN	ITLN2	HGNC	.	.	UPI0000048F3E	SNV	ITLN2,synonymous_variant,p.%3D,ENST00000368029,;RP11-544M22.1,downstream_gene_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000490489,;ITLN2,non_coding_transcript_exon_variant,,ENST00000494442,;	574	78	192	SUCCESS
OLFML2B	25903	.	GRCh37	1	161989734	161989734	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771554171	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	99	69	0	ENST00000294794.3:c.413G>A	p.Arg138Gln	p.R138Q	ENST00000294794	NM_015441.1	138	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1236.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	.	.	ENSP00000294794	.	2/8	.	.	.	.	.	.	.	.	rs771554171	2/8	PASS	ENST00000294794	Transcript	.	.	ENSG00000162745	24558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	tolerated(0.23)	.	OLM2B_HUMAN	OLFML2B	HGNC	H0YEW8_HUMAN,H0YE85_HUMAN	.	UPI00001D7DE0	SNV	OLFML2B,missense_variant,p.Arg138Gln,ENST00000367940,;OLFML2B,missense_variant,p.Arg138Gln,ENST00000294794,;	837	69	153	SUCCESS
CFHR4	10877	.	GRCh37	1	196881942	196881942	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	860	184	535	0	ENST00000367416.2:c.1067A>T	p.Asn356Ile	p.N356I	ENST00000367416	NM_001201551.1	356	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS55671.1	1067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAATAAAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356386	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000367416	Transcript	.	.	ENSG00000134365	16979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.03)	.	FHR4_HUMAN	CFHR4	HGNC	.	.	UPI0001F6C576	SNV	CFHR4,missense_variant,p.Asn356Ile,ENST00000367416,;CFHR4,missense_variant,p.Asn110Ile,ENST00000367418,;CFHR4,missense_variant,p.Asn110Ile,ENST00000251424,;CFHR4,missense_variant,p.Asn39Ile,ENST00000608469,;CFHR2,intron_variant,,ENST00000367421,;	1204	535	1045	SUCCESS
CACNA1S	779	.	GRCh37	1	201018205	201018205	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1224786667	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	40	22	0	ENST00000362061.3:c.4264G>A	p.Val1422Met	p.V1422M	ENST00000362061	NM_000069.2	1422	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS1407.1	4264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGTCCA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190	.	.	ENSP00000355192	.	35/44	.	.	.	.	.	.	.	.	.	35/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Val1403Met,ENST00000367338,;CACNA1S,missense_variant,p.Val1422Met,ENST00000362061,;	4491	22	75	SUCCESS
ZNF678	339500	.	GRCh37	1	227843476	227843476	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	299	75	239	0	ENST00000343776.5:c.1525A>C	p.Arg509=	p.R509=	ENST00000343776	NM_178549.3	509	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	.	1525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGAGAATT	BUFFER|p.R509I|c.1526G>T|6,BUFFER|p.R564I|c.1691G>T|5	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000344828	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343776	Transcript	.	.	ENSG00000181450	28652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN678_HUMAN	ZNF678	HGNC	.	.	UPI000019862A	SNV	ZNF678,synonymous_variant,p.%3D,ENST00000397097,;ZNF678,synonymous_variant,p.%3D,ENST00000343776,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,;ZNF678,downstream_gene_variant,,ENST00000465266,;	1870	239	375	SUCCESS
EBNA1BP2	10969	.	GRCh37	1	43637724	43637724	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1168939428	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	29	70	0	ENST00000236051.2:c.66G>A		p.X22_splice	ENST00000236051	NM_006824.2	22	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS53308.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACCTCTCT	NONE	.	.	hmmpanther:PTHR13028,hmmpanther:PTHR13028:SF0,Pfam_domain:PF05890	.	.	ENSP00000407323	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000431635	Transcript	.	.	ENSG00000117395	15531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EBNA1BP2	HGNC	Q6IB29_HUMAN,H7C2Q8_HUMAN	.	UPI0000204E6D	SNV	EBNA1BP2,synonymous_variant,p.%3D,ENST00000236051,;EBNA1BP2,synonymous_variant,p.%3D,ENST00000431635,;WDR65,upstream_gene_variant,,ENST00000529956,;WDR65,upstream_gene_variant,,ENST00000528956,;WDR65,upstream_gene_variant,,ENST00000372492,;EBNA1BP2,splice_region_variant,,ENST00000483082,;EBNA1BP2,splice_region_variant,,ENST00000461557,;EBNA1BP2,splice_region_variant,,ENST00000491223,;EBNA1BP2,splice_region_variant,,ENST00000472982,;EBNA1BP2,upstream_gene_variant,,ENST00000463906,;WDR65,upstream_gene_variant,,ENST00000533339,;WDR65,upstream_gene_variant,,ENST00000525227,;	380	70	46	SUCCESS
BPIFA2	140683	.	GRCh37	20	31767467	31767467	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	45	0	ENST00000253362.2:c.703G>T	p.Val235Phe	p.V235F	ENST00000253362		235	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS13214.1	703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGTCGTC	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF6,Superfamily_domains:SSF55394	.	.	ENSP00000253362	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000253362	Transcript	.	.	ENSG00000131050	16203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	deleterious(0.02)	.	BPIA2_HUMAN	BPIFA2	HGNC	.	.	UPI00000361E3	SNV	BPIFA2,missense_variant,p.Val235Phe,ENST00000354932,;BPIFA2,missense_variant,p.Val235Phe,ENST00000253362,;	849	45	61	SUCCESS
ACTL10	170487	.	GRCh37	20	32255993	32255993	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	60	0	ENST00000330271.4:c.690C>T	p.Ala230=	p.A230=	ENST00000330271	NM_001024675.1	230	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33463.1	690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCATGTA	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF183,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000329647	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330271	Transcript	.	.	ENSG00000182584	16127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACL10_HUMAN	ACTL10	HGNC	.	.	UPI0000470AC1	SNV	ACTL10,synonymous_variant,p.%3D,ENST00000330271,;NECAB3,intron_variant,,ENST00000375238,;NECAB3,intron_variant,,ENST00000439478,;NECAB3,intron_variant,,ENST00000606690,;NECAB3,intron_variant,,ENST00000246190,;NECAB3,upstream_gene_variant,,ENST00000480994,;NECAB3,downstream_gene_variant,,ENST00000473892,;C20orf144,downstream_gene_variant,,ENST00000375222,;NECAB3,intron_variant,,ENST00000494174,;NECAB3,upstream_gene_variant,,ENST00000606106,;NECAB3,upstream_gene_variant,,ENST00000485976,;NECAB3,intron_variant,,ENST00000606699,;NECAB3,intron_variant,,ENST00000485399,;NECAB3,intron_variant,,ENST00000607805,;NECAB3,intron_variant,,ENST00000493590,;NECAB3,intron_variant,,ENST00000488489,;NECAB3,downstream_gene_variant,,ENST00000484824,;C20orf144,downstream_gene_variant,,ENST00000607738,;NECAB3,downstream_gene_variant,,ENST00000607055,;	1690	60	73	SUCCESS
RALY	22913	.	GRCh37	20	32664877	32664877	+	synonymous_variant	Silent	SNP	C	C	T	rs868721339	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	5	100	0	ENST00000246194.3:c.702C>T	p.Gly234=	p.G234=	ENST00000246194	NM_016732.2	234	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13230.1	702	MUTECT|MUSE	.	GGCGGCGGTGG	BUFFER|p.G231S|c.691G>A|10,BUFFER|p.G235G|c.705T>C|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13968:SF6,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000246194	.	8/10	.	.	.	.	.	.	.	.	COSM3389691	8/10	PASS	ENST00000246194	Transcript	.	.	ENSG00000125970	15921	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	RALY_HUMAN	RALY	HGNC	Q5QPM2_HUMAN,Q5QPM1_HUMAN,Q53GL6_HUMAN,B4DSJ1_HUMAN	.	UPI00000467E6	SNV	RALY,synonymous_variant,p.%3D,ENST00000375114,;RALY,synonymous_variant,p.%3D,ENST00000246194,;RALY,synonymous_variant,p.%3D,ENST00000333552,;RALY,synonymous_variant,p.%3D,ENST00000442805,;RALY,downstream_gene_variant,,ENST00000448364,;RALY,downstream_gene_variant,,ENST00000413297,;RP1-64K7.4,upstream_gene_variant,,ENST00000434926,;RALY,upstream_gene_variant,,ENST00000489384,;RALY,downstream_gene_variant,,ENST00000493399,;RALY,downstream_gene_variant,,ENST00000488227,;RALY,non_coding_transcript_exon_variant,,ENST00000481580,;	1204	100	102	SUCCESS
ZNF280B	140883	.	GRCh37	22	22842492	22842492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	70	139	0	ENST00000360412.2:c.1232G>T	p.Arg411Ile	p.R411I	ENST00000360412	NM_080764.2	411	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS13799.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGATCTATAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,missense_variant,p.Arg411Ile,ENST00000406426,;ZNF280B,missense_variant,p.Arg411Ile,ENST00000360412,;	2008	139	157	SUCCESS
PARVB	29780	.	GRCh37	22	44536018	44536018	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201782671	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	104	0	ENST00000338758.7:c.707G>A	p.Arg236Gln	p.R236Q	ENST00000338758	NM_013327.4	236	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS46724.1	806	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGTTCG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12114:SF7,hmmpanther:PTHR12114	A:0	.	ENSP00000384515	A:0.001	9/14	.	.	.	.	.	.	.	.	rs201782671,COSM1582857	9/14	PASS	ENST00000406477	Transcript	.	A:0.0004	ENSG00000188677	14653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.197)	A:0.001	tolerated(0.29)	0,1	PARVB_HUMAN	PARVB	HGNC	.	.	UPI000041A256	SNV	PARVB,missense_variant,p.Arg199Gln,ENST00000404989,;PARVB,missense_variant,p.Arg269Gln,ENST00000406477,;PARVB,missense_variant,p.Arg236Gln,ENST00000338758,;PARVB,downstream_gene_variant,,ENST00000495824,;	936	104	122	SUCCESS
AOX1	316	.	GRCh37	2	201526345	201526345	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	76	0	ENST00000374700.2:c.3419G>C	p.Gly1140Ala	p.G1140A	ENST00000374700	NM_001159.3	1140	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS33360.1	3419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGATACT	NONE	.	.	hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	.	.	ENSP00000363832	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.Gly26Ala,ENST00000260930,;AOX1,missense_variant,p.Gly1140Ala,ENST00000374700,;AOX1,upstream_gene_variant,,ENST00000439380,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	3660	76	69	SUCCESS
PTPRN	5798	.	GRCh37	2	220172166	220172166	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	46	0	ENST00000295718.2:c.280G>T	p.Gly94Ter	p.G94*	ENST00000295718	NM_002846.3	94	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS2440.1	280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTTGGG	NONE	.	.	Pfam_domain:PF14948	.	.	ENSP00000295718	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000295718	Transcript	.	.	ENSG00000054356	9676	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRN_HUMAN	PTPRN	HGNC	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN	.	UPI0000132999	SNV	PTPRN,stop_gained,p.Gly4Ter,ENST00000442029,;PTPRN,stop_gained,p.Gly94Ter,ENST00000409251,;PTPRN,stop_gained,p.Gly4Ter,ENST00000412847,;PTPRN,stop_gained,p.Gly4Ter,ENST00000423636,;PTPRN,stop_gained,p.Gly4Ter,ENST00000451506,;PTPRN,stop_gained,p.Gly94Ter,ENST00000295718,;PTPRN,stop_gained,p.Gly4Ter,ENST00000446182,;PTPRN,stop_gained,p.Gly61Ter,ENST00000440552,;AC114803.3,downstream_gene_variant,,ENST00000417355,;PTPRN,splice_region_variant,,ENST00000468454,;PTPRN,splice_region_variant,,ENST00000606213,;PTPRN,splice_region_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000484986,;PTPRN,upstream_gene_variant,,ENST00000476930,;PTPRN,downstream_gene_variant,,ENST00000477819,;	521	46	52	SUCCESS
IRS1	3667	.	GRCh37	2	227661977	227661994	+	inframe_deletion	In_Frame_Del	DEL	CGGTGGCCATTGCCACCC	CGGTGGCCATTGCCACCC	-	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	CGGTGGCCATTGCCACCC	CGGTGGCCATTGCCACCC	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	81	0	ENST00000305123.5:c.1461_1478del	p.Gly488_Arg493del	p.G488_R493del	ENST00000305123	NM_005544.2	487	cgGGGTGGCAATGGCCACCGc/cgc	0	.	.	.	.	.	-	RGGNGHR/R	protein_coding	YES	CCDS2463.1	1461-1478	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCAGCGGTGGCCATTGCCACCCCGAGA	NONE	.	.	hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614	.	.	ENSP00000304895	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000305123	Transcript	.	.	ENSG00000169047	6125	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRS1_HUMAN	IRS1	HGNC	.	.	UPI000003BB52	deletion	IRS1,inframe_deletion,p.Gly488_Arg493del,ENST00000305123,;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;	2482-2499	81	76	SUCCESS
C2orf16	84226	.	GRCh37	2	27805389	27805389	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	44	67	2	ENST00000408964.2:c.5950C>T	p.Arg1984Ter	p.R1984*	ENST00000408964	NM_032266.3	1984	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS42666.1	5950	SOMATICSNIPER|VARSCANS	.	CTACTCGATGA	NONE	.	.	.	.	.	ENSP00000386190	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408964	Transcript	.	.	ENSG00000221843	25275	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CB016_HUMAN	C2orf16	HGNC	.	.	UPI0000D61179	SNV	C2orf16,stop_gained,p.Arg1984Ter,ENST00000408964,;ZNF512,upstream_gene_variant,,ENST00000355467,;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,upstream_gene_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	6001	69	85	SUCCESS
VIT	5212	.	GRCh37	2	36982071	36982071	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	46	75	0	ENST00000389975.3:c.283C>A	p.Leu95Ile	p.L95I	ENST00000389975	NM_001177970.1	95	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS33180.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGCTTGAT	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR22992:SF3,hmmpanther:PTHR22992,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000368544	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000379242	Transcript	.	.	ENSG00000205221	12697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(1)	.	VITRN_HUMAN	VIT	HGNC	C9J6F5_HUMAN	.	UPI000006E0F8	SNV	VIT,missense_variant,p.Leu73Ile,ENST00000404084,;VIT,missense_variant,p.Leu95Ile,ENST00000457137,;VIT,missense_variant,p.Leu95Ile,ENST00000389975,;VIT,missense_variant,p.Leu95Ile,ENST00000379242,;VIT,missense_variant,p.Leu95Ile,ENST00000401530,;VIT,missense_variant,p.Leu95Ile,ENST00000379241,;VIT,5_prime_UTR_variant,,ENST00000497382,;	585	75	83	SUCCESS
BCL11A	53335	.	GRCh37	2	60687714	60687714	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	55	123	1	ENST00000335712.6:c.2333C>T	p.Ala778Val	p.A778V	ENST00000335712	NM_022893.3	778	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1862.1	2333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGCATAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000338774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335712	Transcript	.	.	ENSG00000119866	13221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	BC11A_HUMAN	BCL11A	HGNC	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN	.	UPI000013DC00	SNV	BCL11A,missense_variant,p.Ala744Val,ENST00000538214,;BCL11A,missense_variant,p.Ala744Val,ENST00000358510,;BCL11A,missense_variant,p.Ala778Val,ENST00000335712,;BCL11A,intron_variant,,ENST00000359629,;BCL11A,intron_variant,,ENST00000356842,;BCL11A,intron_variant,,ENST00000537768,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	2561	124	141	SUCCESS
VGLL4	9686	.	GRCh37	3	11685118	11685118	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	13	0	ENST00000273038.3:c.65-41622G>T		p.*22*	ENST00000273038	NM_014667.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46754.1	.	MUTECT|MUSE	.	TCAGACTATCA	NONE	.	.	.	.	.	ENSP00000404251	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000430365	Transcript	.	.	ENSG00000144560	28966	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	VGLL4	HGNC	Q0H0I7_HUMAN,G5E9M9_HUMAN,G5E9M7_HUMAN,C9JX59_HUMAN,C9JBN2_HUMAN	.	UPI000013D995	SNV	VGLL4,5_prime_UTR_variant,,ENST00000430365,;VGLL4,intron_variant,,ENST00000417206,;VGLL4,intron_variant,,ENST00000418000,;VGLL4,intron_variant,,ENST00000273038,;VGLL4,intron_variant,,ENST00000419541,;VGLL4,intron_variant,,ENST00000404339,;VGLL4,intron_variant,,ENST00000445411,;VGLL4,intron_variant,,ENST00000426568,;VGLL4,intron_variant,,ENST00000417466,;	281	13	23	SUCCESS
VPS8	23355	.	GRCh37	3	184573496	184573496	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	37	0	ENST00000437079.3:c.1036-3T>C		p.X346_splice	ENST00000437079	NM_001009921.2	346		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46971.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTTAGATG	NONE	.	.	.	.	.	ENSP00000397879	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000437079	Transcript	.	.	ENSG00000156931	29122	.	.	LOW	13/47	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VPS8_HUMAN	VPS8	HGNC	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN	.	UPI0000160BDC	SNV	VPS8,splice_region_variant,,ENST00000436792,;VPS8,splice_region_variant,,ENST00000287546,;VPS8,splice_region_variant,,ENST00000437079,;VPS8,splice_region_variant,,ENST00000446204,;VPS8,splice_region_variant,,ENST00000465818,;VPS8,upstream_gene_variant,,ENST00000465213,;VPS8,downstream_gene_variant,,ENST00000452666,;VPS8,downstream_gene_variant,,ENST00000469713,;	.	37	50	SUCCESS
LAP3	51056	.	GRCh37	4	17586622	17586622	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	91	0	ENST00000226299.4:c.567A>T	p.Gly189=	p.G189=	ENST00000226299	NM_015907.2	189	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3422.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGAGTCCT	NONE	.	.	HAMAP:MF_00181,hmmpanther:PTHR11963,hmmpanther:PTHR11963:SF13,Gene3D:3.40.220.10,Superfamily_domains:SSF52949	.	.	ENSP00000226299	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000226299	Transcript	.	.	ENSG00000002549	18449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMPL_HUMAN	LAP3	HGNC	.	.	UPI000014F97D	SNV	LAP3,synonymous_variant,p.%3D,ENST00000226299,;LAP3,synonymous_variant,p.%3D,ENST00000606142,;LAP3,synonymous_variant,p.%3D,ENST00000513105,;AC006160.5,downstream_gene_variant,,ENST00000511010,;LAP3,non_coding_transcript_exon_variant,,ENST00000507960,;LAP3,non_coding_transcript_exon_variant,,ENST00000504614,;LAP3,upstream_gene_variant,,ENST00000503467,;LAP3,3_prime_UTR_variant,,ENST00000509583,;LAP3,non_coding_transcript_exon_variant,,ENST00000508014,;LAP3,downstream_gene_variant,,ENST00000508497,;LAP3,downstream_gene_variant,,ENST00000512397,;	841	91	70	SUCCESS
CTNND2	1501	.	GRCh37	5	11732327	11732327	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	70	0	ENST00000304623.8:c.95G>A	p.Ser32Asn	p.S32N	ENST00000304623	NM_001332.2	32	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS3881.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCTCAGG	NONE	.	.	.	.	.	ENSP00000307134	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	tolerated(0.12)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Ser32Asn,ENST00000304623,;CTNND2,missense_variant,p.Ser18Asn,ENST00000502551,;CTNND2,missense_variant,p.Ser32Asn,ENST00000359640,;CTNND2,missense_variant,p.Ser18Asn,ENST00000508761,;CTNND2,5_prime_UTR_variant,,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,non_coding_transcript_exon_variant,,ENST00000509868,;CTNND2,missense_variant,p.Ser32Asn,ENST00000513588,;CTNND2,missense_variant,p.Ser32Asn,ENST00000504499,;	285	70	47	SUCCESS
PCDHB12	56124	.	GRCh37	5	140589015	140589015	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	55	112	0	ENST00000239450.2:c.536A>T	p.His179Leu	p.H179L	ENST00000239450	NM_018932.3	179	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS4254.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCACGTTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	deleterious_low_confidence(0.05)	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,missense_variant,p.His179Leu,ENST00000239450,;PCDHB12,intron_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	725	112	126	SUCCESS
KIAA0141	0	.	GRCh37	5	141318088	141318088	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	54	0	ENST00000432126.2:c.1312C>T	p.Pro438Ser	p.P438S	ENST00000432126	NM_014773.3	438	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4268.1	1312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCCCGGGG	NONE	.	.	hmmpanther:PTHR11102:SF43,hmmpanther:PTHR11102	.	.	ENSP00000396225	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000432126	Transcript	.	.	ENSG00000081791	28969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.3)	.	DELE_HUMAN	KIAA0141	HGNC	.	.	UPI0000139350	SNV	KIAA0141,missense_variant,p.Pro140Ser,ENST00000507481,;KIAA0141,missense_variant,p.Pro438Ser,ENST00000194118,;KIAA0141,missense_variant,p.Pro438Ser,ENST00000432126,;KIAA0141,downstream_gene_variant,,ENST00000508751,;KIAA0141,downstream_gene_variant,,ENST00000506775,;KIAA0141,splice_region_variant,,ENST00000509110,;KIAA0141,downstream_gene_variant,,ENST00000502729,;	1446	54	55	SUCCESS
AP3B1	8546	.	GRCh37	5	77471662	77471662	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	130	0	ENST00000255194.6:c.1041G>T	p.Arg347Ser	p.R347S	ENST00000255194		347	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4041.1	1041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCCTAGA	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371	.	.	ENSP00000255194	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000255194	Transcript	1	.	ENSG00000132842	566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.37)	.	AP3B1_HUMAN	AP3B1	HGNC	E5RJ68_HUMAN	.	UPI00001AE77D	SNV	AP3B1,missense_variant,p.Arg347Ser,ENST00000255194,;AP3B1,missense_variant,p.Arg298Ser,ENST00000519295,;	1217	130	129	SUCCESS
KCTD20	222658	.	GRCh37	6	36454686	36454698	+	protein_altering_variant	In_Frame_Del	DEL	AAGAGAAGGCCTG	AAGAGAAGGCCTG	C	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	AAGAGAAGGCCTG	AAGAGAAGGCCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	93	0	ENST00000373731.2:c.994_1006delinsC	p.Lys332_Gly336delinsArg	p.K332_G336delinsR	ENST00000373731	NM_173562.3	332	AAGAGAAGGCCTGgc/Cgc	0	.	.	.	.	.	C	KRRPG/R	protein_coding	YES	CCDS4821.1	994-1006	INDELOCATOR*|PINDEL	.	AAAATTAAGAGAAGGCCTGGCGGC	NONE	.	.	hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1	.	.	ENSP00000362836	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000373731	Transcript	.	.	ENSG00000112078	21052	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCD20_HUMAN	KCTD20	HGNC	F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN	.	UPI00001AADF6	substitution	KCTD20,protein_altering_variant,p.Lys86_Gly90delinsArg,ENST00000544295,;KCTD20,protein_altering_variant,p.Lys166_Gly170delinsArg,ENST00000449081,;KCTD20,protein_altering_variant,p.Lys187_Gly191delinsArg,ENST00000536244,;KCTD20,protein_altering_variant,p.Lys332_Gly336delinsArg,ENST00000373731,;KCTD20,non_coding_transcript_exon_variant,,ENST00000474988,;KCTD20,3_prime_UTR_variant,,ENST00000265344,;KCTD20,3_prime_UTR_variant,,ENST00000481911,;	1385-1397	93	103	SUCCESS
PAQR8	85315	.	GRCh37	6	52268597	52268611	+	inframe_deletion	In_Frame_Del	DEL	TATGCCAAATATCGT	TATGCCAAATATCGT	-	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	TATGCCAAATATCGT	TATGCCAAATATCGT	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	85	0	ENST00000360726.3:c.588_602del	p.Ala197_Tyr201del	p.A197_Y201del	ENST00000360726		196	TATGCCAAATATCGT/-	0	.	.	.	.	.	-	YAKYR/-	protein_coding	YES	CCDS4941.1	586-600	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTGCTATGCCAAATATCGTTACCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR20855:SF22,hmmpanther:PTHR20855,Pfam_domain:PF03006	.	.	ENSP00000406197	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000442253	Transcript	.	.	ENSG00000170915	15708	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPRB_HUMAN	PAQR8	HGNC	D6RCM7_HUMAN	.	UPI0000073877	deletion	PAQR8,inframe_deletion,p.Ala197_Tyr201del,ENST00000442253,;PAQR8,inframe_deletion,p.Ala197_Tyr201del,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;	760-774	85	85	SUCCESS
ABCB5	340273	.	GRCh37	7	20683148	20683148	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	151	0	ENST00000404938.2:c.571A>G	p.Thr191Ala	p.T191A	ENST00000404938	NM_001163941.1	191	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS55090.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTACTTTT	BUFFER|p.S193L|c.578C>T|5	.	.	PROSITE_profiles:PS50929,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000384881	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	tolerated(0.08)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Thr191Ala,ENST00000404938,;ABCB5,upstream_gene_variant,,ENST00000443026,;ABCB5,upstream_gene_variant,,ENST00000258738,;ABCB5,upstream_gene_variant,,ENST00000406935,;ABCB5,upstream_gene_variant,,ENST00000477094,;AC002486.3,upstream_gene_variant,,ENST00000435098,;	1223	151	116	SUCCESS
TONSL	4796	.	GRCh37	8	145668159	145668159	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	50	0	ENST00000409379.3:c.479T>C	p.Met160Thr	p.M160T	ENST00000409379	NM_013432.4	160	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS34968.2	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCATCTCA	NONE	.	.	hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000386239	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000409379	Transcript	.	.	ENSG00000160949	7801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	TONSL_HUMAN	TONSL	HGNC	.	.	UPI0000424A3B	SNV	TONSL,missense_variant,p.Met160Thr,ENST00000409379,;AC084125.4,downstream_gene_variant,,ENST00000544423,;AC084125.4,downstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	509	50	104	SUCCESS
BICD2	23299	.	GRCh37	9	95481421	95481421	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	36	0	ENST00000375512.3:c.1506G>A	p.Leu502=	p.L502=	ENST00000375512	NM_015250.3	502	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35064.1	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCAGCCG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7,Pfam_domain:PF09730	.	.	ENSP00000349351	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000356884	Transcript	.	.	ENSG00000185963	17208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BICD2_HUMAN	BICD2	HGNC	.	.	UPI00001BBAF1	SNV	BICD2,synonymous_variant,p.%3D,ENST00000375512,;BICD2,synonymous_variant,p.%3D,ENST00000356884,;	1574	36	42	SUCCESS
CXorf40A	0	.	GRCh37	X	148627336	148627336	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782813690	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	195	205	0	ENST00000441248.1:c.160C>T	p.Arg54Trp	p.R54W	ENST00000441248		54	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS14687.1	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGGGAG	NONE	byFrequency	.	hmmpanther:PTHR31666,hmmpanther:PTHR31666:SF0,SMART_domains:SM01022	.	.	ENSP00000423099	.	3/4	.	.	.	.	.	.	.	.	rs782813690	3/4	PASS	ENST00000441248	Transcript	.	.	ENSG00000197620	28089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.13)	.	CX04A_HUMAN	CXorf40A	HGNC	S4R3T8_HUMAN,D6RH26_HUMAN,D6RA30_HUMAN	.	UPI0001D3B68B	SNV	CXorf40A,missense_variant,p.Arg54Trp,ENST00000434353,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000441248,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000423421,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000450602,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000359293,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000393985,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000423540,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000514208,;CXorf40A,missense_variant,p.Arg54Trp,ENST00000422892,;CXorf40A,5_prime_UTR_variant,,ENST00000428236,;CXorf40A,downstream_gene_variant,,ENST00000431132,;LINC00893,upstream_gene_variant,,ENST00000609314,;LINC00893,upstream_gene_variant,,ENST00000609161,;LINC00893,upstream_gene_variant,,ENST00000447209,;RP5-937E21.8,downstream_gene_variant,,ENST00000431993,;LINC00893,upstream_gene_variant,,ENST00000608616,;LINC00893,upstream_gene_variant,,ENST00000609651,;LINC00893,upstream_gene_variant,,ENST00000541582,;LINC00893,upstream_gene_variant,,ENST00000608355,;LINC00893,upstream_gene_variant,,ENST00000436708,;CXorf40A,downstream_gene_variant,,ENST00000448332,;	1747	205	229	SUCCESS
CXorf40B	0	.	GRCh37	X	149101933	149101933	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373378421	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	306	45	337	0	ENST00000370406.3:c.160C>T	p.Arg54Trp	p.R54W	ENST00000370406		54	Cgg/Tgg	0	A:0.0003	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS35426.1	160	MUTECT|MUSE	.	CTCCCGACAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR31666,hmmpanther:PTHR31666:SF0,SMART_domains:SM01022	A:0.001	A:0	ENSP00000359434	A:0	4/5	.	.	.	.	.	.	.	.	rs373378421	4/5	PASS	ENST00000370406	Transcript	.	A:0.0003	ENSG00000197021	17402	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	A:0	tolerated(0.15)	.	CX04B_HUMAN	CXorf40B	HGNC	S4R3T8_HUMAN,S4R3G8_HUMAN,D6RA30_HUMAN	.	UPI0000072E4A	SNV	CXorf40B,missense_variant,p.Arg54Trp,ENST00000370406,;CXorf40B,missense_variant,p.Arg54Trp,ENST00000370404,;CXorf40B,missense_variant,p.Arg54Trp,ENST00000370409,;CXorf40B,missense_variant,p.Arg54Trp,ENST00000355203,;CXorf40B,missense_variant,p.Arg54Trp,ENST00000462691,;CXorf40B,downstream_gene_variant,,ENST00000483447,;LINC00894,upstream_gene_variant,,ENST00000449111,;XX-FW81066F1.2,downstream_gene_variant,,ENST00000457775,;CXorf40B,downstream_gene_variant,,ENST00000497550,;	989	337	351	SUCCESS
CWF19L1	55280	.	GRCh37	10	101993050	101993050	+	synonymous_variant	Silent	SNP	G	G	A	rs142671230	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	59	74	0	ENST00000354105.4:c.1551C>T	p.Asp517=	p.D517=	ENST00000354105	NM_018294.4	517	gaC/gaT	0	A:0.0005	A:0	.	A:0.0014	.	A	D	protein_coding	YES	CCDS7489.1	1551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGTCTTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12072:SF4,hmmpanther:PTHR12072,Gene3D:3.30.428.10,Pfam_domain:PF04676	A:0	A:0.0001	ENSP00000326411	A:0.001	14/14	.	.	.	.	.	.	.	.	rs142671230	14/14	PASS	ENST00000354105	Transcript	.	A:0.0004	ENSG00000095485	25613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	C19L1_HUMAN	CWF19L1	HGNC	D3DR67_HUMAN	.	UPI0000070B3E	SNV	CWF19L1,synonymous_variant,p.%3D,ENST00000370379,;CWF19L1,synonymous_variant,p.%3D,ENST00000354105,;CHUK,upstream_gene_variant,,ENST00000370397,;SNORA12,downstream_gene_variant,,ENST00000391162,;RP11-316M21.6,non_coding_transcript_exon_variant,,ENST00000444359,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000468709,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000482452,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000478047,;CWF19L1,downstream_gene_variant,,ENST00000466408,;CWF19L1,downstream_gene_variant,,ENST00000466955,;	1638	74	100	SUCCESS
CALHM2	51063	.	GRCh37	10	105209713	105209713	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs374090172	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	78	0	ENST00000260743.5:c.-15G>T		p.*5*	ENST00000260743	NM_015916.4			0	T:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS7549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCGGGGT	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000260743	.	3/4	.	.	.	.	.	.	.	.	rs374090172	3/4	PASS	ENST00000260743	Transcript	.	.	ENSG00000138172	23493	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAHM2_HUMAN	CALHM2	HGNC	.	.	UPI0000070F1F	SNV	CALHM2,5_prime_UTR_variant,,ENST00000369788,;CALHM2,5_prime_UTR_variant,,ENST00000393235,;CALHM2,5_prime_UTR_variant,,ENST00000260743,;CALHM1,downstream_gene_variant,,ENST00000329905,;PDCD11,downstream_gene_variant,,ENST00000369797,;RP11-225H22.7,upstream_gene_variant,,ENST00000608063,;RP11-225H22.4,upstream_gene_variant,,ENST00000411906,;CALHM2,non_coding_transcript_exon_variant,,ENST00000494180,;CALHM2,intron_variant,,ENST00000463878,;CALHM2,downstream_gene_variant,,ENST00000474797,;CALHM2,downstream_gene_variant,,ENST00000480642,;CALHM2,downstream_gene_variant,,ENST00000461631,;PDCD11,downstream_gene_variant,,ENST00000478543,;	510	78	62	SUCCESS
FGFR2	2263	.	GRCh37	10	123239601	123239601	+	intron_variant	Intron	SNP	G	G	A	rs749663414	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	47	0	ENST00000358487.5:c.2302-66C>T		p.*768*	ENST00000358487	NM_000141.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7620.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGAGAGG	NONE	byFrequency	.	.	.	.	ENSP00000410294	.	.	.	.	.	.	.	.	.	.	rs749663414	.	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODIFIER	17/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	SNV	FGFR2,synonymous_variant,p.%3D,ENST00000351936,;FGFR2,intron_variant,,ENST00000429361,;FGFR2,intron_variant,,ENST00000346997,;FGFR2,intron_variant,,ENST00000369061,;FGFR2,intron_variant,,ENST00000358487,;FGFR2,intron_variant,,ENST00000369059,;FGFR2,intron_variant,,ENST00000369060,;FGFR2,intron_variant,,ENST00000356226,;FGFR2,intron_variant,,ENST00000478859,;FGFR2,intron_variant,,ENST00000357555,;FGFR2,intron_variant,,ENST00000457416,;FGFR2,downstream_gene_variant,,ENST00000336553,;FGFR2,downstream_gene_variant,,ENST00000360144,;FGFR2,downstream_gene_variant,,ENST00000369058,;FGFR2,downstream_gene_variant,,ENST00000369056,;FGFR2,intron_variant,,ENST00000467584,;FGFR2,intron_variant,,ENST00000604236,;	.	47	42	SUCCESS
FAM196A	0	.	GRCh37	10	128974496	128974496	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs952293347	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	35	75	0	ENST00000522781.1:c.164C>T	p.Ala55Val	p.A55V	ENST00000522781	NM_001039762.2	55	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31312.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGCCTCG	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000429763	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000522781	Transcript	.	.	ENSG00000188916	33859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	F196A_HUMAN	FAM196A	HGNC	.	.	UPI00001C0E37	SNV	FAM196A,missense_variant,p.Ala55Val,ENST00000522781,;FAM196A,missense_variant,p.Ala55Val,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,;	720	75	44	SUCCESS
MYO3A	53904	.	GRCh37	10	26359123	26359123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	16	185	0	ENST00000265944.5:c.1254G>A	p.Met418Ile	p.M418I	ENST00000265944	NM_017433.4	418	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7148.1	1254	MUTECT|MUSE	.	TCTATGATAAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.817)	.	deleterious(0.02)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Met418Ile,ENST00000265944,;MYO3A,missense_variant,p.Met418Ile,ENST00000543632,;	1420	185	218	SUCCESS
AKR1C2	1646	.	GRCh37	10	5032222	5032239	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	INS	CCAGCAAAACTGGAAAGA	CCAGCAAAACTGGAAAGA	GCCAGCAAAACTGGAAAGAG	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	CCAGCAAAACTGGAAAGA	CCAGCAAAACTGGAAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	461	88	506	0	ENST00000380753.4:c.930-9_938delinsCTCTTTCCAGTTTTGCTGGC		p.X310_splice	ENST00000380753	NM_205845.2	310		0	.	.	.	.	.	GCCAGCAAAACTGGAAAGAG	.	protein_coding	YES	CCDS7062.1	?-938	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGGGCCAGCAAAACTGGAAAGAGAAAA	NONE	.	.	.	.	.	ENSP00000370129	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000380753	Transcript	1	.	ENSG00000151632	385	.	.	HIGH	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AK1C2_HUMAN	AKR1C2	HGNC	S4R3P0_HUMAN	.	UPI0000111D9F	substitution	AKR1C2,splice_acceptor_variant,,ENST00000380753,;AKR1C2,splice_acceptor_variant,,ENST00000421196,;AKR1C2,splice_acceptor_variant,,ENST00000407674,;AKR1C2,splice_acceptor_variant,,ENST00000460124,;	?-1126	506	549	SUCCESS
PTEN	5728	.	GRCh37	10	89717669	89717674	+	inframe_deletion	In_Frame_Del	DEL	ACACGA	ACACGA	-	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	ACACGA	ACACGA	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	163	0	ENST00000371953.3:c.694_699del	p.Thr232_Arg233del	p.T232_R233del	ENST00000371953	NM_000314.4	232	ACACGA/-	0	.	.	.	.	.	-	TR/-	protein_coding	YES	CCDS31238.1	694-699	VARSCANI*|PINDEL	.	GGACCCACACGACGGGA	CODON|p.0?|c.1_1212del1212|28,CODON|p.R233fs*10|c.696_697insA|3,CODON|p.R233*|c.697C>T|95,BUFFER|p.S229*|c.686C>G|6,BUFFER|p.R234W|c.700C>T|4,BUFFER|p.E235*|c.703G>T|4	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	.	.	ENSP00000361021	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	deletion	PTEN,inframe_deletion,p.Thr232_Arg233del,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	2051-2056	163	68	SUCCESS
ANKRD22	118932	.	GRCh37	10	90588419	90588422	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs768469100	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	TCTT	TCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	54	0	ENST00000371930.4:c.215_218del	p.Lys72ArgfsTer9	p.K72Rfs*9	ENST00000371930	NM_144590.2	72	aAAGAg/ag	0	-:0.0002	.	.	.	.	-	KE/X	protein_coding	YES	CCDS7390.1	215-218	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCTCTCTTTCTAA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF29,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	-:0	ENSP00000360998	.	3/6	.	.	.	.	.	.	.	.	rs768469100	3/6	PASS	ENST00000371930	Transcript	.	.	ENSG00000152766	28321	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR22_HUMAN	ANKRD22	HGNC	.	.	UPI000013DCF6	deletion	ANKRD22,frameshift_variant,p.Lys72ArgfsTer9,ENST00000371930,;	426-429	54	39	SUCCESS
PSMC3	5702	.	GRCh37	11	47441913	47441913	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	48	0	ENST00000298852.3:c.1029C>T	p.Leu343=	p.L343=	ENST00000298852	NM_002804.4	343	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7935.1	1029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGAGGAG	NONE	.	.	hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF7,PROSITE_patterns:PS00674,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000298852	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000298852	Transcript	.	.	ENSG00000165916	9549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS6A_HUMAN	PSMC3	HGNC	R4GNH3_HUMAN	.	UPI0000132389	SNV	PSMC3,synonymous_variant,p.%3D,ENST00000524447,;PSMC3,synonymous_variant,p.%3D,ENST00000530912,;PSMC3,synonymous_variant,p.%3D,ENST00000602866,;PSMC3,synonymous_variant,p.%3D,ENST00000298852,;PSMC3,downstream_gene_variant,,ENST00000526993,;PSMC3,downstream_gene_variant,,ENST00000531051,;SLC39A13,downstream_gene_variant,,ENST00000533076,;SLC39A13,downstream_gene_variant,,ENST00000524928,;PSMC3,downstream_gene_variant,,ENST00000530651,;SLC39A13,downstream_gene_variant,,ENST00000354884,;SLC39A13,downstream_gene_variant,,ENST00000362021,;SLC39A13,downstream_gene_variant,,ENST00000527829,;SLC39A13,downstream_gene_variant,,ENST00000524886,;PSMC3,downstream_gene_variant,,ENST00000527906,;PSMC3,downstream_gene_variant,,ENST00000530887,;PSMC3,downstream_gene_variant,,ENST00000528362,;PSMC3,downstream_gene_variant,,ENST00000531653,;	1187	48	47	SUCCESS
DAGLA	747	.	GRCh37	11	61511629	61511629	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	92	0	ENST00000257215.5:c.2797C>G	p.Leu933Val	p.L933V	ENST00000257215	NM_006133.2	933	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS31578.1	2797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACCTCTAC	NONE	.	.	.	.	.	ENSP00000257215	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000257215	Transcript	.	.	ENSG00000134780	1165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	deleterious_low_confidence(0.01)	.	DGLA_HUMAN	DAGLA	HGNC	.	.	UPI00001678B3	SNV	DAGLA,missense_variant,p.Leu933Val,ENST00000257215,;RP11-467L20.10,downstream_gene_variant,,ENST00000541891,;RP11-467L20.10,downstream_gene_variant,,ENST00000536405,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	2913	92	130	SUCCESS
C2CD3	26005	.	GRCh37	11	73824881	73824881	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	87	0	ENST00000334126.7:c.1787A>T	p.Lys596Met	p.K596M	ENST00000334126	NM_001286577.1	596	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS31636.1	1787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCTTTCCC	NONE	.	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,SMART_domains:SM00239	.	.	ENSP00000323339	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Lys596Met,ENST00000313663,;C2CD3,missense_variant,p.Lys596Met,ENST00000334126,;C2CD3,upstream_gene_variant,,ENST00000537285,;C2CD3,non_coding_transcript_exon_variant,,ENST00000415191,;C2CD3,upstream_gene_variant,,ENST00000366334,;	2014	87	82	SUCCESS
SERPINH1	871	.	GRCh37	11	75280247	75280247	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	56	0	ENST00000358171.3:c.954+31G>A		p.*318*	ENST00000358171	NM_001235.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8239.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGCCTT	NONE	.	.	.	.	.	ENSP00000434412	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000524558	Transcript	.	.	ENSG00000149257	1546	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SERPH_HUMAN	SERPINH1	HGNC	Q9NPA9_HUMAN,E9PRS3_HUMAN,E9PR70_HUMAN,E9PNX1_HUMAN,E9PMI5_HUMAN,E9PKH2_HUMAN,E9PK86_HUMAN,E9PJH8_HUMAN,E9PIG2_HUMAN,B4DN87_HUMAN	.	UPI00001271B6	SNV	SERPINH1,3_prime_UTR_variant,,ENST00000530284,;SERPINH1,intron_variant,,ENST00000525876,;SERPINH1,intron_variant,,ENST00000524558,;SERPINH1,intron_variant,,ENST00000533603,;SERPINH1,intron_variant,,ENST00000358171,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000533449,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000528990,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,downstream_gene_variant,,ENST00000526242,;SERPINH1,downstream_gene_variant,,ENST00000529643,;SERPINH1,upstream_gene_variant,,ENST00000526638,;	.	56	65	SUCCESS
CREBZF	58487	.	GRCh37	11	85375725	85375725	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs775347674	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	110	0	ENST00000490820.2:c.195C>T	p.Ala65=	p.A65=	ENST00000490820		65	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS41697.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGGCTTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14312:SF1,hmmpanther:PTHR14312	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	rs775347674	1/1	PASS	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	SNV	CREBZF,synonymous_variant,p.%3D,ENST00000527447,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,upstream_gene_variant,,ENST00000398294,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,synonymous_variant,p.%3D,ENST00000525639,;CREBZF,synonymous_variant,p.%3D,ENST00000490820,;CREBZF,upstream_gene_variant,,ENST00000260058,;CREBZF,upstream_gene_variant,,ENST00000528889,;CREBZF,upstream_gene_variant,,ENST00000527529,;CREBZF,upstream_gene_variant,,ENST00000528561,;	422	110	91	SUCCESS
CNTN5	53942	.	GRCh37	11	99715619	99715619	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769168156	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	52	165	0	ENST00000524871.1:c.313C>A	p.Pro105Thr	p.P105T	ENST00000524871	NM_014361.3	105	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS53696.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACCAGAT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	5/25	.	.	.	.	.	.	.	.	rs769168156	5/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Pro105Thr,ENST00000279463,;CNTN5,missense_variant,p.Pro105Thr,ENST00000524871,;CNTN5,missense_variant,p.Pro105Thr,ENST00000528682,;CNTN5,missense_variant,p.Pro105Thr,ENST00000527185,;CNTN5,missense_variant,p.Pro31Thr,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	603	165	142	SUCCESS
WSCD2	9671	.	GRCh37	12	108600076	108600076	+	synonymous_variant	Silent	SNP	C	C	A	rs777503597	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	83	0	ENST00000332082.4:c.393C>A	p.Ile131=	p.I131=	ENST00000332082		131	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS41828.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCGGCTG	NONE	byFrequency	.	SMART_domains:SM00321,Pfam_domain:PF01822,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,PROSITE_profiles:PS51212	.	.	ENSP00000331933	.	4/10	.	.	.	.	.	.	.	.	rs777503597,COSM200584	4/10	PASS	ENST00000332082	Transcript	.	.	ENSG00000075035	29117	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	WSCD2_HUMAN	WSCD2	HGNC	F8W030_HUMAN	.	UPI00001C1F3A	SNV	WSCD2,synonymous_variant,p.%3D,ENST00000549903,;WSCD2,synonymous_variant,p.%3D,ENST00000332082,;WSCD2,synonymous_variant,p.%3D,ENST00000547525,;WSCD2,synonymous_variant,p.%3D,ENST00000261400,;WSCD2,5_prime_UTR_variant,,ENST00000551638,;	1211	83	100	SUCCESS
ATXN2	6311	.	GRCh37	12	111951302	111951302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	7	102	0	ENST00000377617.3:c.1897A>T	p.Asn633Tyr	p.N633Y	ENST00000377617	NM_002973.3	633	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS31902.1	1897	MUTECT|MUSE	.	GTGATTTCGAG	BUFFER|p.R632Q|c.1895G>A|3	.	.	hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11	.	.	ENSP00000366843	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000377617	Transcript	.	.	ENSG00000204842	10555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.492)	.	.	.	ATX2_HUMAN	ATXN2	HGNC	D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN	.	UPI0000DBEEFC	SNV	ATXN2,missense_variant,p.Asn162Tyr,ENST00000550236,;ATXN2,missense_variant,p.Asn368Tyr,ENST00000542287,;ATXN2,missense_variant,p.Asn77Tyr,ENST00000492467,;ATXN2,missense_variant,p.Asn344Tyr,ENST00000535949,;ATXN2,missense_variant,p.Asn368Tyr,ENST00000389153,;ATXN2,missense_variant,p.Asn473Tyr,ENST00000608853,;ATXN2,missense_variant,p.Asn633Tyr,ENST00000550104,;ATXN2,missense_variant,p.Asn633Tyr,ENST00000377617,;ATXN2,non_coding_transcript_exon_variant,,ENST00000481331,;ATXN2,missense_variant,p.Asn554Tyr,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000392645,;ATXN2,upstream_gene_variant,,ENST00000546483,;	2059	102	112	SUCCESS
MAPKAPK5	8550	.	GRCh37	12	112308139	112308139	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	44	102	0	ENST00000551404.2:c.458A>G	p.Asn153Ser	p.N153S	ENST00000551404		153	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS44975.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAATCTGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000449381	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000551404	Transcript	.	.	ENSG00000089022	6889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0.03)	.	MAPK5_HUMAN	MAPKAPK5	HGNC	.	.	UPI0000161429	SNV	MAPKAPK5,missense_variant,p.Asn153Ser,ENST00000550735,;MAPKAPK5,missense_variant,p.Asn153Ser,ENST00000551404,;MAPKAPK5,intron_variant,,ENST00000549875,;MAPKAPK5,downstream_gene_variant,,ENST00000546394,;MAPKAPK5,intron_variant,,ENST00000553053,;	566	102	125	SUCCESS
GCN1L1	0	.	GRCh37	12	120616729	120616729	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	41	0	ENST00000300648.6:c.451C>A	p.Leu151Met	p.L151M	ENST00000300648	NM_006836.1	151	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS41847.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGCAAGA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000300648	.	6/58	.	.	.	.	.	.	.	.	.	6/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Leu151Met,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000548821,;	464	41	31	SUCCESS
CAPRIN2	65981	.	GRCh37	12	30863221	30863221	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	144	0	ENST00000298892.5:c.2849T>G	p.Phe950Cys	p.F950C	ENST00000298892	NM_023925.3	950	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS8720.1	2849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGAAGGCA	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	.	ENSP00000298892	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000298892	Transcript	.	.	ENSG00000110888	21259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CAPR2_HUMAN	CAPRIN2	HGNC	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN	.	UPI000007080A	SNV	CAPRIN2,missense_variant,p.Phe666Cys,ENST00000308433,;CAPRIN2,missense_variant,p.Phe1000Cys,ENST00000251071,;CAPRIN2,missense_variant,p.Phe950Cys,ENST00000298892,;CAPRIN2,3_prime_UTR_variant,,ENST00000433722,;CAPRIN2,3_prime_UTR_variant,,ENST00000395805,;CAPRIN2,downstream_gene_variant,,ENST00000417045,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;	3600	144	117	SUCCESS
KRT5	3852	.	GRCh37	12	52908953	52908953	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	828	502	1287	1	ENST00000252242.4:c.1546C>T	p.Leu516Phe	p.L516F	ENST00000252242	NM_000424.3	516	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS8830.1	1546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGACCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF159,hmmpanther:PTHR23239	.	.	ENSP00000252242	.	9/9	.	.	.	.	.	.	.	.	COSM940755	9/9	PASS	ENST00000252242	Transcript	.	.	ENSG00000186081	6442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated(0.71)	1	K2C5_HUMAN	KRT5	HGNC	Q9UEK9_HUMAN,F8VV57_HUMAN,B4DL32_HUMAN	.	UPI000013CD4B	SNV	KRT5,missense_variant,p.Leu516Phe,ENST00000252242,;KRT5,downstream_gene_variant,,ENST00000551275,;KRT5,downstream_gene_variant,,ENST00000548409,;KRT5,downstream_gene_variant,,ENST00000551188,;KRT5,downstream_gene_variant,,ENST00000549420,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,non_coding_transcript_exon_variant,,ENST00000549511,;KRT5,non_coding_transcript_exon_variant,,ENST00000552952,;KRT5,downstream_gene_variant,,ENST00000547890,;KRT5,downstream_gene_variant,,ENST00000551013,;KRT5,downstream_gene_variant,,ENST00000552629,;	1937	1288	1331	SUCCESS
HSD17B6	8630	.	GRCh37	12	57180920	57180920	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	21	69	0	ENST00000322165.1:c.748A>G	p.Met250Val	p.M250V	ENST00000322165	NM_003725.2	250	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS8925.1	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCATGAAG	NONE	.	.	hmmpanther:PTHR24316:SF280,hmmpanther:PTHR24316,Gene3D:3.40.50.720	.	.	ENSP00000451406	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000554643	Transcript	.	.	ENSG00000025423	23316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.51)	.	H17B6_HUMAN	HSD17B6	HGNC	G3V508_HUMAN,G3V3Y9_HUMAN	.	UPI000004C789	SNV	HSD17B6,missense_variant,p.Met250Val,ENST00000554643,;HSD17B6,missense_variant,p.Met250Val,ENST00000555805,;HSD17B6,missense_variant,p.Met250Val,ENST00000554150,;HSD17B6,missense_variant,p.Met250Val,ENST00000322165,;HSD17B6,missense_variant,p.Met250Val,ENST00000555159,;HSD17B6,non_coding_transcript_exon_variant,,ENST00000553476,;HSD17B6,non_coding_transcript_exon_variant,,ENST00000556875,;	1097	69	112	SUCCESS
FARP1	10160	.	GRCh37	13	99040698	99040698	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	75	0	ENST00000319562.6:c.821A>G	p.Lys274Arg	p.K274R	ENST00000319562	NM_005766.2	274	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9487.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAAGCGCT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Gene3D:2.30.29.30,Pfam_domain:PF09380,Superfamily_domains:SSF50729	.	.	ENSP00000322926	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	tolerated(0.09)	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,missense_variant,p.Lys274Arg,ENST00000376586,;FARP1,missense_variant,p.Lys274Arg,ENST00000595437,;FARP1,missense_variant,p.Lys274Arg,ENST00000319562,;FARP1,missense_variant,p.Lys142Arg,ENST00000601009,;FARP1,downstream_gene_variant,,ENST00000599040,;FARP1,downstream_gene_variant,,ENST00000598389,;FARP1,non_coding_transcript_exon_variant,,ENST00000595380,;FARP1,downstream_gene_variant,,ENST00000602263,;FARP1,downstream_gene_variant,,ENST00000593548,;FARP1,downstream_gene_variant,,ENST00000595817,;FARP1,downstream_gene_variant,,ENST00000600032,;FARP1,upstream_gene_variant,,ENST00000600190,;FARP1,downstream_gene_variant,,ENST00000490389,;FARP1,downstream_gene_variant,,ENST00000596467,;	1086	75	90	SUCCESS
TM9SF1	10548	.	GRCh37	14	24661413	24661413	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775833062	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	65	225	0	ENST00000261789.4:c.1117G>A	p.Val373Met	p.V373M	ENST00000261789	NM_006405.5	373	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS9617.1	1117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACACCCAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10766:SF14,hmmpanther:PTHR10766,Pfam_domain:PF02990	.	.	ENSP00000261789	.	4/6	.	.	.	.	.	.	.	.	rs775833062	4/6	PASS	ENST00000261789	Transcript	.	.	ENSG00000100926	11864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	TM9S1_HUMAN	TM9SF1	HGNC	G3V1B9_HUMAN,E9PS99_HUMAN,E9PQY7_HUMAN,E9PNW2_HUMAN,E9PL78_HUMAN,E9PJC4_HUMAN	.	UPI000000CC18	SNV	TM9SF1,missense_variant,p.Val373Met,ENST00000261789,;TM9SF1,missense_variant,p.Val373Met,ENST00000396854,;TM9SF1,missense_variant,p.Val286Met,ENST00000524835,;TM9SF1,missense_variant,p.Val582Met,ENST00000530611,;TM9SF1,missense_variant,p.Val373Met,ENST00000528669,;TM9SF1,missense_variant,p.Val582Met,ENST00000556387,;TM9SF1,intron_variant,,ENST00000532632,;TM9SF1,downstream_gene_variant,,ENST00000530468,;IPO4,upstream_gene_variant,,ENST00000354464,;TM9SF1,downstream_gene_variant,,ENST00000528010,;TM9SF1,downstream_gene_variant,,ENST00000525592,;TM9SF1,downstream_gene_variant,,ENST00000528895,;TM9SF1,downstream_gene_variant,,ENST00000530563,;TM9SF1,missense_variant,p.Val373Met,ENST00000529332,;TM9SF1,non_coding_transcript_exon_variant,,ENST00000531406,;IPO4,upstream_gene_variant,,ENST00000558193,;IPO4,upstream_gene_variant,,ENST00000560798,;IPO4,upstream_gene_variant,,ENST00000561090,;IPO4,upstream_gene_variant,,ENST00000557996,;IPO4,upstream_gene_variant,,ENST00000561199,;RP11-468E2.2,upstream_gene_variant,,ENST00000561419,;IPO4,upstream_gene_variant,,ENST00000560315,;IPO4,upstream_gene_variant,,ENST00000560155,;IPO4,upstream_gene_variant,,ENST00000559588,;IPO4,upstream_gene_variant,,ENST00000561034,;IPO4,upstream_gene_variant,,ENST00000560222,;IPO4,upstream_gene_variant,,ENST00000558046,;IPO4,upstream_gene_variant,,ENST00000559635,;IPO4,upstream_gene_variant,,ENST00000559253,;IPO4,upstream_gene_variant,,ENST00000558780,;IPO4,upstream_gene_variant,,ENST00000558718,;	1476	225	206	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36017745	36017745	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	102	0	ENST00000389698.3:c.6104-1G>T		p.X2035_splice	ENST00000389698	NM_014990.1	2035		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32064.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCTAAAG	NONE	.	.	.	.	.	ENSP00000302647	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	MODIFIER	39/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,splice_acceptor_variant,,ENST00000389698,;RALGAPA1,splice_acceptor_variant,,ENST00000553892,;RALGAPA1,splice_acceptor_variant,,ENST00000382366,;RALGAPA1,splice_acceptor_variant,,ENST00000258840,;RALGAPA1,intron_variant,,ENST00000554573,;RALGAPA1,intron_variant,,ENST00000554259,;RALGAPA1,intron_variant,,ENST00000307138,;RALGAPA1,downstream_gene_variant,,ENST00000554355,;	.	102	63	SUCCESS
TBPL2	387332	.	GRCh37	14	55907152	55907152	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	57	160	0	ENST00000247219.5:c.112A>G	p.Thr38Ala	p.T38A	ENST00000247219	NM_199047.2	38	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9724.1	112	RADIA|MUTECT|MUSE	.	GTAGGTCTCCT	NONE	.	.	.	.	.	ENSP00000247219	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000247219	Transcript	.	.	ENSG00000182521	19841	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.31)	.	TBPL2_HUMAN	TBPL2	HGNC	G3V454_HUMAN	.	UPI0000226668	SNV	TBPL2,missense_variant,p.Thr38Ala,ENST00000247219,;TBPL2,5_prime_UTR_variant,,ENST00000556755,;	183	160	159	SUCCESS
ARID4A	5926	.	GRCh37	14	58830925	58830925	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	149	376	0	ENST00000355431.3:c.2118A>C	p.Leu706Phe	p.L706F	ENST00000355431	NM_002892.3	706	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS9732.1	2118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTAGAAAA	NONE	.	.	hmmpanther:PTHR13964:SF1,hmmpanther:PTHR13964	.	.	ENSP00000347602	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000355431	Transcript	.	.	ENSG00000032219	9885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	tolerated_low_confidence(0.17)	.	ARI4A_HUMAN	ARID4A	HGNC	H7C485_HUMAN,C9JIF4_HUMAN	.	UPI000013FD01	SNV	ARID4A,missense_variant,p.Leu706Phe,ENST00000355431,;ARID4A,missense_variant,p.Leu706Phe,ENST00000395168,;ARID4A,missense_variant,p.Leu384Phe,ENST00000417477,;ARID4A,missense_variant,p.Leu706Phe,ENST00000431317,;ARID4A,missense_variant,p.Leu706Phe,ENST00000348476,;ARID4A,downstream_gene_variant,,ENST00000469635,;ARID4A,upstream_gene_variant,,ENST00000466065,;	2491	376	367	SUCCESS
CATSPERB	79820	.	GRCh37	14	92185810	92185810	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	38	92	0	ENST00000256343.3:c.322A>C	p.Ile108Leu	p.I108L	ENST00000256343	NM_024764.2	108	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS32142.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATCCGAT	NONE	.	.	hmmpanther:PTHR14705	.	.	ENSP00000256343	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000256343	Transcript	.	.	ENSG00000133962	20500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.72)	.	CTSRB_HUMAN	CATSPERB	HGNC	G3V584_HUMAN,G3V352_HUMAN	.	UPI0000418DA1	SNV	CATSPERB,missense_variant,p.Ile108Leu,ENST00000256343,;CATSPERB,missense_variant,p.Ile61Leu,ENST00000553329,;CATSPERB,downstream_gene_variant,,ENST00000553676,;CATSPERB,downstream_gene_variant,,ENST00000556661,;CATSPERB,downstream_gene_variant,,ENST00000554560,;U3,upstream_gene_variant,,ENST00000363172,;	479	92	111	SUCCESS
TRIP11	9321	.	GRCh37	14	92470139	92470139	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	135	0	ENST00000267622.4:c.4181A>T	p.Glu1394Val	p.E1394V	ENST00000267622	NM_004239.3	1394	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS9899.1	4181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTTCTGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18921:SF2,hmmpanther:PTHR18921	.	.	ENSP00000267622	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000267622	Transcript	1	.	ENSG00000100815	12305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRIPB_HUMAN	TRIP11	HGNC	G3V4R7_HUMAN	.	UPI000013D767	SNV	TRIP11,missense_variant,p.Glu1110Val,ENST00000554357,;TRIP11,missense_variant,p.Glu1394Val,ENST00000267622,;TRIP11,upstream_gene_variant,,ENST00000557017,;	4555	135	95	SUCCESS
CHRFAM7A	89832	.	GRCh37	15	30654974	30654974	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763039096	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	24	111	0	ENST00000299847.2:c.761G>A	p.Arg254Gln	p.R254Q	ENST00000299847	NM_139320.1	254	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS32184.1	761	RADIA|VARSCANS	.	TCATTCGCAGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF480,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000299847	.	10/10	.	.	.	.	.	.	.	.	rs763039096	10/10	PASS	ENST00000299847	Transcript	.	.	ENSG00000166664	15781	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.834)	.	deleterious(0.03)	.	CRFM7_HUMAN	CHRFAM7A	HGNC	Q693P7_HUMAN,H3BPP0_HUMAN	.	UPI000013E5F0	SNV	CHRFAM7A,missense_variant,p.Arg254Gln,ENST00000299847,;CHRFAM7A,missense_variant,p.Arg163Gln,ENST00000397827,;CHRFAM7A,missense_variant,p.Arg163Gln,ENST00000401522,;RP11-382B18.4,upstream_gene_variant,,ENST00000602453,;	1215	112	112	SUCCESS
TRPM1	4308	.	GRCh37	15	31294091	31294091	+	synonymous_variant	Silent	SNP	C	C	A	rs770304201,rs143866050	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	48	1	ENST00000397795.2:c.4746G>T	p.Val1582=	p.V1582=	ENST00000397795	NM_002420.5	1582	gtG/gtT	0	.	G:0	.	G:0	.	A	V	protein_coding	YES	CCDS58347.1	4863	SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACACAAT	NONE	byFrequency|byCluster|by1000G	.	.	G:0.0079	.	ENSP00000437849	G:0	27/27	.	.	.	.	.	.	.	.	rs770304201,rs143866050	27/27	PASS	ENST00000542188	Transcript	1	G:0.0016	ENSG00000134160	7146	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,synonymous_variant,p.%3D,ENST00000542188,;TRPM1,synonymous_variant,p.%3D,ENST00000558768,;TRPM1,synonymous_variant,p.%3D,ENST00000256552,;TRPM1,synonymous_variant,p.%3D,ENST00000397795,;TRPM1,downstream_gene_variant,,ENST00000558445,;TRPM1,downstream_gene_variant,,ENST00000559177,;RP11-348B17.1,upstream_gene_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	5177	49	77	SUCCESS
CHRNA7	1139	.	GRCh37	15	32460181	32460181	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761782025	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	245	57	351	1	ENST00000306901.3:c.1031G>A	p.Arg344Gln	p.R344Q	ENST00000306901	NM_000746.5	344	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS53924.1	1118	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGAATGA	NONE	byFrequency	.	Superfamily_domains:SSF90112,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	.	.	ENSP00000407546	.	10/10	.	.	.	.	.	.	.	.	rs761782025	10/10	PASS	ENST00000454250	Transcript	1	.	ENSG00000175344	1960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	deleterious(0.04)	.	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,missense_variant,p.Arg373Gln,ENST00000454250,;CHRNA7,missense_variant,p.Arg163Gln,ENST00000455693,;CHRNA7,missense_variant,p.Arg344Gln,ENST00000306901,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;	1225	352	302	SUCCESS
CHP1	11261	.	GRCh37	15	41571555	41571555	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	48	93	0	ENST00000334660.5:c.556G>A	p.Glu186Lys	p.E186K	ENST00000334660	NM_007236.4	186	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10073.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTAGAACAG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF17,Superfamily_domains:SSF47473	.	.	ENSP00000335632	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000334660	Transcript	.	.	ENSG00000187446	17433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	CHP1_HUMAN	CHP1	HGNC	.	.	UPI000013D461	SNV	CHP1,missense_variant,p.Glu186Lys,ENST00000334660,;CHP1,missense_variant,p.Glu145Lys,ENST00000560397,;OIP5-AS1,upstream_gene_variant,,ENST00000500949,;OIP5-AS1,upstream_gene_variant,,ENST00000561275,;OIP5-AS1,upstream_gene_variant,,ENST00000557993,;OIP5-AS1,upstream_gene_variant,,ENST00000559368,;OIP5-AS1,upstream_gene_variant,,ENST00000560706,;OIP5-AS1,upstream_gene_variant,,ENST00000561226,;OIP5-AS1,upstream_gene_variant,,ENST00000558945,;OIP5-AS1,upstream_gene_variant,,ENST00000501665,;CHP1,non_coding_transcript_exon_variant,,ENST00000558351,;CHP1,3_prime_UTR_variant,,ENST00000392151,;CHP1,3_prime_UTR_variant,,ENST00000560411,;OIP5-AS1,upstream_gene_variant,,ENST00000560545,;CHP1,downstream_gene_variant,,ENST00000560784,;OIP5-AS1,upstream_gene_variant,,ENST00000558457,;	796	93	115	SUCCESS
STRC	161497	.	GRCh37	15	43909976	43909976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	39	0	ENST00000450892.2:c.643T>A	p.Phe215Ile	p.F215I	ENST00000450892	NM_153700.2	215	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS10098.1	643	RADIA|VARSCANS	.	CAAAAAGTGAG	NONE	.	.	hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412	.	.	ENSP00000401513	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000450892	Transcript	1	.	ENSG00000242866	16035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.23)	.	STRC_HUMAN	STRC	HGNC	E7EPM8_HUMAN	.	UPI000013E60F	SNV	STRC,missense_variant,p.Phe215Ile,ENST00000450892,;STRC,missense_variant,p.Phe155Ile,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;snoU13,downstream_gene_variant,,ENST00000459277,;STRC,missense_variant,p.Phe215Ile,ENST00000440125,;STRC,missense_variant,p.Phe215Ile,ENST00000428650,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000470279,;STRC,upstream_gene_variant,,ENST00000483250,;	721	39	50	SUCCESS
IL4R	3566	.	GRCh37	16	27374453	27374453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	62	0	ENST00000395762.2:c.1780G>T	p.Gly594Cys	p.G594C	ENST00000395762	NM_000418.3	594	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS10629.1	1780	MUTECT|MUSE	.	TGGTGGGCTTG	NONE	.	.	hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24	.	.	ENSP00000379111	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000395762	Transcript	.	.	ENSG00000077238	6015	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	tolerated(0.13)	.	IL4RA_HUMAN	IL4R	HGNC	J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN	.	UPI0000044371	SNV	IL4R,missense_variant,p.Gly594Cys,ENST00000395762,;IL4R,missense_variant,p.Gly579Cys,ENST00000380922,;IL4R,missense_variant,p.Gly594Cys,ENST00000543915,;IL4R,missense_variant,p.Gly594Cys,ENST00000170630,;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	2039	62	56	SUCCESS
GLYR1	84656	.	GRCh37	16	4861735	4861735	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760748474	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	56	0	ENST00000321919.9:c.1351A>G	p.Ile451Val	p.I451V	ENST00000321919	NM_032569.3	451	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS10524.1	1351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAATAGTGG	NONE	byFrequency	.	hmmpanther:PTHR22981,hmmpanther:PTHR22981:SF56,Gene3D:1.10.1040.10,Pfam_domain:PF14833,Superfamily_domains:SSF48179	.	.	ENSP00000322716	.	14/16	.	.	.	.	.	.	.	.	rs760748474,COSM1749629	14/16	PASS	ENST00000321919	Transcript	.	.	ENSG00000140632	24434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.4)	0,1	GLYR1_HUMAN	GLYR1	HGNC	K7EPU6_HUMAN	.	UPI00001FF8EE	SNV	GLYR1,missense_variant,p.Ile445Val,ENST00000591451,;GLYR1,missense_variant,p.Ile451Val,ENST00000321919,;GLYR1,missense_variant,p.Ile370Val,ENST00000436648,;GLYR1,missense_variant,p.Ile434Val,ENST00000381983,;GLYR1,missense_variant,p.Ile422Val,ENST00000589389,;GLYR1,3_prime_UTR_variant,,ENST00000588732,;GLYR1,intron_variant,,ENST00000587936,;GLYR1,downstream_gene_variant,,ENST00000591846,;	1428	56	65	SUCCESS
CDH11	1009	.	GRCh37	16	65025837	65025837	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	94	0	ENST00000268603.4:c.645T>A		p.X215_splice	ENST00000268603	NM_001797.2	215	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10803.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATACCTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268603	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000567934,;CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,synonymous_variant,p.%3D,ENST00000268603,;CDH11,synonymous_variant,p.%3D,ENST00000566827,;CDH11,splice_region_variant,,ENST00000569128,;	1261	94	121	SUCCESS
CDH13	1012	.	GRCh37	16	83704424	83704424	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	49	132	0	ENST00000268613.10:c.1274del	p.Gly425GlufsTer6	p.G425Efs*6	ENST00000268613		424	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS58485.1	1272	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTGTGGGAGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF80,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000268613	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000268613	Transcript	.	.	ENSG00000140945	1753	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAD13_HUMAN	CDH13	HGNC	.	.	UPI00020E71A6	deletion	CDH13,frameshift_variant,p.Gly339GlufsTer6,ENST00000428848,;CDH13,frameshift_variant,p.Gly425GlufsTer6,ENST00000268613,;CDH13,frameshift_variant,p.Gly378GlufsTer6,ENST00000566620,;CDH13,non_coding_transcript_exon_variant,,ENST00000562307,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	1365	132	196	SUCCESS
EIF1	10209	.	GRCh37	17	39847045	39847045	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	81	0	ENST00000469257.1:c.309T>C	p.Ala103=	p.A103=	ENST00000469257		103	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS11403.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTAAGGA	NONE	.	.	Superfamily_domains:SSF55159,PIRSF_domain:PIRSF004499,TIGRFAM_domain:TIGR01160,Gene3D:3.30.780.10,Pfam_domain:PF01253,hmmpanther:PTHR10388,hmmpanther:PTHR10388:SF10	.	.	ENSP00000419449	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000469257	Transcript	.	.	ENSG00000173812	3249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF1_HUMAN	EIF1	HGNC	Q6IAV3_HUMAN	.	UPI000000DC99	SNV	EIF1,synonymous_variant,p.%3D,ENST00000469257,;EIF1,synonymous_variant,p.%3D,ENST00000591776,;JUP,intron_variant,,ENST00000540235,;EIF1,downstream_gene_variant,,ENST00000586699,;EIF1,non_coding_transcript_exon_variant,,ENST00000469308,;EIF1,non_coding_transcript_exon_variant,,ENST00000310837,;EIF1,non_coding_transcript_exon_variant,,ENST00000482111,;EIF1,non_coding_transcript_exon_variant,,ENST00000462917,;	455	81	82	SUCCESS
G6PC	0	.	GRCh37	17	41056040	41056040	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	93	0	ENST00000253801.2:c.323C>T	p.Thr108Ile	p.T108I	ENST00000253801	NM_000151.3	108	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS11446.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAACCTGTG	NONE	.	.	Superfamily_domains:SSF48317,SMART_domains:SM00014,PIRSF_domain:PIRSF000905,Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR12591:SF3,hmmpanther:PTHR12591	.	.	ENSP00000253801	.	2/5	.	.	.	.	.	.	.	.	CM990607	2/5	PASS	ENST00000253801	Transcript	.	.	ENSG00000131482	4056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	.	G6PC_HUMAN	G6PC	HGNC	.	.	UPI000013CDF5	SNV	G6PC,missense_variant,p.Thr108Ile,ENST00000585489,;G6PC,missense_variant,p.Thr108Ile,ENST00000253801,;G6PC,missense_variant,p.Thr108Ile,ENST00000592383,;G6PC,non_coding_transcript_exon_variant,,ENST00000588481,;	402	93	82	SUCCESS
CD300A	11314	.	GRCh37	17	72462736	72462736	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	21	20	0	ENST00000360141.3:c.-107C>T		p.*36*	ENST00000360141	NM_007261.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32720.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGCGGCAC	NONE	.	.	.	.	.	ENSP00000353259	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000360141	Transcript	.	.	ENSG00000167851	19319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM8_HUMAN	CD300A	HGNC	J3QKQ4_HUMAN	.	UPI0000073EA9	SNV	CD300A,5_prime_UTR_variant,,ENST00000360141,;CD300A,upstream_gene_variant,,ENST00000310828,;CD300A,upstream_gene_variant,,ENST00000392625,;CD300A,upstream_gene_variant,,ENST00000577511,;CD300A,upstream_gene_variant,,ENST00000361933,;CD300A,upstream_gene_variant,,ENST00000582319,;	182	20	33	SUCCESS
ITGB4	3691	.	GRCh37	17	73738423	73738423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	69	90	0	ENST00000200181.3:c.2635C>A	p.Gln879Lys	p.Q879K	ENST00000200181	NM_000213.3	879	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS11727.1	2635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCAAGAC	NONE	.	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513	.	.	ENSP00000200181	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0.04)	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Gln879Lys,ENST00000579662,;ITGB4,missense_variant,p.Gln879Lys,ENST00000450894,;ITGB4,missense_variant,p.Gln879Lys,ENST00000339591,;ITGB4,missense_variant,p.Gln879Lys,ENST00000449880,;ITGB4,missense_variant,p.Gln879Lys,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,splice_region_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,upstream_gene_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;	2822	90	129	SUCCESS
ALOX12B	242	.	GRCh37	17	7976129	7976129	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	153	0	ENST00000319144.4:c.2066A>G	p.Tyr689Cys	p.Y689C	ENST00000319144	NM_001139.2	689	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11129.1	2066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTAGTAG	NONE	.	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484	.	.	ENSP00000315167	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000319144	Transcript	.	.	ENSG00000179477	430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LX12B_HUMAN	ALOX12B	HGNC	.	.	UPI000000D996	SNV	ALOX12B,missense_variant,p.Tyr689Cys,ENST00000319144,;ALOX12B,downstream_gene_variant,,ENST00000577351,;ALOX12B,downstream_gene_variant,,ENST00000584116,;ALOX12B,downstream_gene_variant,,ENST00000583276,;	2327	153	86	SUCCESS
FASN	2194	.	GRCh37	17	80038617	80038617	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	43	114	0	ENST00000306749.2:c.6777C>T	p.Ser2259=	p.S2259=	ENST00000306749	NM_004104.4	2259	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11801.1	6777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGCTGTG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.50.1820,Pfam_domain:PF00975,Superfamily_domains:SSF53474	.	.	ENSP00000304592	.	39/43	.	.	.	.	.	.	.	.	.	39/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,coding_sequence_variant,p.%3D,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;	6996	114	172	SUCCESS
EPB41L3	23136	.	GRCh37	18	5410602	5410602	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373780287	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	42	86	0	ENST00000341928.2:c.2084C>A	p.Thr695Lys	p.T695K	ENST00000341928	NM_012307.3	695	aCg/aAg	0	A:0	.	.	.	.	T	T/K	protein_coding	YES	CCDS11838.1	2084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCGTGCGC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,PIRSF_domain:PIRSF002304	.	A:0.0001	ENSP00000343158	.	14/23	.	.	.	.	.	.	.	.	rs373780287,COSM473924	14/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,1	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Thr695Lys,ENST00000342933,;EPB41L3,missense_variant,p.Thr695Lys,ENST00000341928,;EPB41L3,missense_variant,p.Thr526Lys,ENST00000400111,;EPB41L3,missense_variant,p.Thr526Lys,ENST00000544123,;EPB41L3,missense_variant,p.Thr526Lys,ENST00000540638,;EPB41L3,5_prime_UTR_variant,,ENST00000427684,;EPB41L3,5_prime_UTR_variant,,ENST00000542146,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578524,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000582729,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578196,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580316,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581387,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578395,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580647,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000579271,;EPB41L3,intron_variant,,ENST00000581292,;EPB41L3,upstream_gene_variant,,ENST00000584055,;	2425	86	67	SUCCESS
SLC35E1	79939	.	GRCh37	19	16664490	16664490	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	rs1393300747	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	8	100	0	ENST00000595753.1:c.1233G>T	p.Ter411TyrextTer27	p.*411Yext*27	ENST00000595753	NM_024881.4	411	taG/taT	0	.	.	.	.	.	A	*/Y	protein_coding	YES	CCDS12346.2	1233	MUTECT|MUSE	.	GGACTCTACAC	NONE	.	.	.	.	.	ENSP00000470652	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000595753	Transcript	.	.	ENSG00000127526	20803	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S35E1_HUMAN	SLC35E1	HGNC	.	.	UPI000004D338	SNV	SLC35E1,stop_lost,p.Ter345TyrextTer27,ENST00000436553,;SLC35E1,stop_lost,p.Ter411TyrextTer27,ENST00000595753,;SLC35E1,downstream_gene_variant,,ENST00000421082,;CTD-3222D19.11,downstream_gene_variant,,ENST00000597357,;SLC35E1,non_coding_transcript_exon_variant,,ENST00000600356,;SLC35E1,upstream_gene_variant,,ENST00000596387,;SLC35E1,upstream_gene_variant,,ENST00000593812,;SLC35E1,downstream_gene_variant,,ENST00000470077,;SLC35E1,3_prime_UTR_variant,,ENST00000409648,;CTD-3222D19.2,intron_variant,,ENST00000409035,;SLC35E1,downstream_gene_variant,,ENST00000469055,;	1251	100	112	SUCCESS
THOP1	7064	.	GRCh37	19	2810267	2810304	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CCTGGGCACTCTGAGGCTCTGCCCCATCCCTGCAGGCG	CCTGGGCACTCTGAGGCTCTGCCCCATCCCTGCAGGCG	-	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	CCTGGGCACTCTGAGGCTCTGCCCCATCCCTGCAGGCG	CCTGGGCACTCTGAGGCTCTGCCCCATCCCTGCAGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	94	0	ENST00000307741.6:c.1456-35_1458del		p.X486_splice	ENST00000307741	NM_003249.3	486		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12095.1	?-1458	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGGACCTGGGCACTCTGAGGCTCTGCCCCATCCCTGCAGGCGGAGTT	NONE	.	.	.	.	.	ENSP00000304467	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	.	.	HIGH	9/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	deletion	THOP1,splice_acceptor_variant,,ENST00000590970,;THOP1,splice_acceptor_variant,,ENST00000307741,;THOP1,splice_acceptor_variant,,ENST00000587401,;THOP1,splice_acceptor_variant,,ENST00000586677,;THOP1,splice_acceptor_variant,,ENST00000591363,;THOP1,5_prime_UTR_variant,,ENST00000395212,;THOP1,5_prime_UTR_variant,,ENST00000587468,;THOP1,splice_acceptor_variant,,ENST00000591149,;THOP1,splice_acceptor_variant,,ENST00000592639,;THOP1,splice_acceptor_variant,,ENST00000590533,;THOP1,splice_acceptor_variant,,ENST00000589087,;	?-1661	94	87	SUCCESS
ANKRD27	84079	.	GRCh37	19	33108518	33108518	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751816362	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	338	171	464	0	ENST00000306065.4:c.2029G>T	p.Val677Phe	p.V677F	ENST00000306065	NM_032139.2	677	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS32986.1	2029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAACTGCTC	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1,PROSITE_profiles:PS50297	.	.	ENSP00000304292	.	21/29	.	.	.	.	.	.	.	.	rs751816362	21/29	PASS	ENST00000306065	Transcript	.	.	ENSG00000105186	25310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	deleterious(0)	.	ANR27_HUMAN	ANKRD27	HGNC	K7EPM2_HUMAN,K7EIN0_HUMAN,K7EIH4_HUMAN	.	UPI000004FDE9	SNV	ANKRD27,missense_variant,p.Val677Phe,ENST00000306065,;	2188	464	509	SUCCESS
LGI4	163175	.	GRCh37	19	35622196	35622196	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	54	0	ENST00000310123.3:c.628+94C>T		p.*210*	ENST00000310123	NM_139284.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12444.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGGAAATG	NONE	.	.	.	.	.	ENSP00000312273	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310123	Transcript	.	.	ENSG00000153902	18712	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGI4_HUMAN	LGI4	HGNC	.	.	UPI000004C5DE	SNV	LGI4,missense_variant,p.Ser241Phe,ENST00000591633,;LGI4,intron_variant,,ENST00000310123,;LGI4,intron_variant,,ENST00000392225,;LGI4,intron_variant,,ENST00000587780,;LGI4,intron_variant,,ENST00000493050,;LGI4,intron_variant,,ENST00000591840,;LGI4,downstream_gene_variant,,ENST00000592346,;LGI4,non_coding_transcript_exon_variant,,ENST00000473160,;LGI4,intron_variant,,ENST00000593248,;	.	54	51	SUCCESS
NUCB1	4924	.	GRCh37	19	49407702	49407702	+	synonymous_variant	Silent	SNP	G	G	A	rs762061317	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	60	0	ENST00000405315.4:c.234G>A	p.Glu78=	p.E78=	ENST00000405315	NM_006184.5	78	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS12740.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAGGACAT	NONE	byFrequency	.	hmmpanther:PTHR19237:SF21,hmmpanther:PTHR19237	.	.	ENSP00000385923	.	3/13	.	.	.	.	.	.	.	.	rs762061317	3/13	PASS	ENST00000405315	Transcript	.	.	ENSG00000104805	8043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUCB1_HUMAN	NUCB1	HGNC	Q96BA4_HUMAN,C9JBD3_HUMAN,C9J3C1_HUMAN,B4DZX0_HUMAN,B3KUR6_HUMAN	.	UPI0000161F57	SNV	NUCB1,synonymous_variant,p.%3D,ENST00000263273,;NUCB1,synonymous_variant,p.%3D,ENST00000451312,;NUCB1,synonymous_variant,p.%3D,ENST00000405315,;NUCB1,synonymous_variant,p.%3D,ENST00000407032,;NUCB1,synonymous_variant,p.%3D,ENST00000452087,;NUCB1,synonymous_variant,p.%3D,ENST00000411700,;NUCB1,synonymous_variant,p.%3D,ENST00000424608,;NUCB1,intron_variant,,ENST00000485798,;NUCB1,3_prime_UTR_variant,,ENST00000443560,;	568	60	54	SUCCESS
SIGLEC6	946	.	GRCh37	19	52033118	52033118	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	118	0	ENST00000425629.3:c.872C>A	p.Pro291His	p.P291H	ENST00000425629	NM_001245.5	291	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS12834.3	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGGGAAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41,PROSITE_profiles:PS50835	.	.	ENSP00000401502	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	tolerated(0.21)	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,missense_variant,p.Pro239His,ENST00000436458,;SIGLEC6,missense_variant,p.Pro280His,ENST00000391797,;SIGLEC6,missense_variant,p.Pro302His,ENST00000359982,;SIGLEC6,missense_variant,p.Pro291His,ENST00000425629,;SIGLEC6,missense_variant,p.Pro291His,ENST00000343300,;SIGLEC6,missense_variant,p.Pro275His,ENST00000346477,;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;	1027	118	116	SUCCESS
PTPRS	5802	.	GRCh37	19	5225821	5225821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772609224	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	66	0	ENST00000357368.4:c.2411C>T	p.Ala804Val	p.A804V	ENST00000357368	NM_002850.3	804	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45930.1	2411	MUTECT|MUSE	.	AGTACGCGGTC	NONE	byFrequency	.	Prints_domain:PR00014,Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134,PROSITE_profiles:PS50853	.	.	ENSP00000349932	.	17/38	.	.	.	.	.	.	.	.	rs772609224,COSM1525895	17/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.487)	.	tolerated(0.07)	0,1	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	SNV	PTPRS,missense_variant,p.Ala804Val,ENST00000587303,;PTPRS,missense_variant,p.Ala805Val,ENST00000372412,;PTPRS,missense_variant,p.Ala782Val,ENST00000588012,;PTPRS,missense_variant,p.Ala800Val,ENST00000262963,;PTPRS,missense_variant,p.Ala804Val,ENST00000357368,;PTPRS,missense_variant,p.Ala782Val,ENST00000348075,;PTPRS,intron_variant,,ENST00000353284,;PTPRS,intron_variant,,ENST00000592099,;PTPRS,intron_variant,,ENST00000588552,;	2645	66	59	SUCCESS
TSEN34	79042	.	GRCh37	19	54695356	54695356	+	synonymous_variant	Silent	SNP	C	C	T	rs908424228	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	41	0	ENST00000302937.4:c.141C>T	p.Gly47=	p.G47=	ENST00000302937	NM_024075.3	47	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42609.1	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCTCCC	NONE	.	.	PIRSF_domain:PIRSF017250,hmmpanther:PTHR13070	.	.	ENSP00000379667	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,synonymous_variant,p.%3D,ENST00000396383,;TSEN34,synonymous_variant,p.%3D,ENST00000455798,;TSEN34,synonymous_variant,p.%3D,ENST00000456872,;TSEN34,synonymous_variant,p.%3D,ENST00000396388,;TSEN34,synonymous_variant,p.%3D,ENST00000429671,;TSEN34,synonymous_variant,p.%3D,ENST00000302937,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;	452	41	43	SUCCESS
LILRA1	11024	.	GRCh37	19	55106839	55106839	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	100	0	ENST00000251372.3:c.633C>A	p.Pro211=	p.P211=	ENST00000251372	NM_006863.3	211	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12901.1	633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCAGTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251372	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000251372	Transcript	.	.	ENSG00000104974	6602	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRA1_HUMAN	LILRA1	HGNC	.	.	UPI0000034C00	SNV	LILRA1,synonymous_variant,p.%3D,ENST00000453777,;LILRA1,synonymous_variant,p.%3D,ENST00000251372,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	815	100	95	SUCCESS
KIF1B	23095	.	GRCh37	1	10316355	10316355	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1171875422	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	46	0	ENST00000377086.1:c.157G>A	p.Asp53Asn	p.D53N	ENST00000377086		53	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS111.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGACTAT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF328,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000263934	.	3/47	.	.	.	.	.	.	.	.	.	3/47	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,missense_variant,p.Asp53Asn,ENST00000377081,;KIF1B,missense_variant,p.Asp53Asn,ENST00000377093,;KIF1B,missense_variant,p.Asp53Asn,ENST00000377086,;KIF1B,missense_variant,p.Asp53Asn,ENST00000263934,;KIF1B,missense_variant,p.Asp53Asn,ENST00000377083,;	310	46	60	SUCCESS
COL11A1	1301	.	GRCh37	1	103496781	103496781	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	43	0	ENST00000370096.3:c.671T>C	p.Leu224Ser	p.L224S	ENST00000370096	NM_001854.3	224	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS778.1	671	MUTECT|MUSE	.	TGATCAAAAAC	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000359114	.	5/67	.	.	.	.	.	.	.	.	.	5/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Leu224Ser,ENST00000512756,;COL11A1,missense_variant,p.Leu224Ser,ENST00000353414,;COL11A1,missense_variant,p.Leu224Ser,ENST00000427239,;COL11A1,missense_variant,p.Leu224Ser,ENST00000370096,;COL11A1,missense_variant,p.Leu151Ser,ENST00000447608,;COL11A1,missense_variant,p.Leu224Ser,ENST00000358392,;	984	43	22	SUCCESS
FAM63A	0	.	GRCh37	1	150974849	150974849	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	59	0	ENST00000361738.6:c.389T>G	p.Leu130Arg	p.L130R	ENST00000361738	NM_001163258.1	130	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS53361.1	389	MUTECT|MUSE|VARSCANS	.	TCCCAAGGGTT	NONE	.	.	hmmpanther:PTHR18063:SF7,hmmpanther:PTHR18063	.	.	ENSP00000354669	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000361738	Transcript	.	.	ENSG00000143409	25648	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.54)	.	FA63A_HUMAN	FAM63A	HGNC	.	.	UPI0001AE7915	SNV	FAM63A,missense_variant,p.Leu130Arg,ENST00000361738,;FAM63A,missense_variant,p.Leu82Arg,ENST00000361936,;FAM63A,5_prime_UTR_variant,,ENST00000493834,;FAM63A,intron_variant,,ENST00000312210,;FAM63A,upstream_gene_variant,,ENST00000497067,;FAM63A,intron_variant,,ENST00000470877,;	609	59	52	SUCCESS
BRINP2	57795	.	GRCh37	1	177249580	177249580	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	74	214	0	ENST00000361539.4:c.1268C>T	p.Ser423Phe	p.S423F	ENST00000361539	NM_021165.2	423	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS1320.1	1268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCCCTCC	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.819)	.	deleterious(0)	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Ser423Phe,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	1580	214	194	SUCCESS
CALML6	163688	.	GRCh37	1	1848609	1848609	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	83	0	ENST00000307786.3:c.523G>T	p.Glu175Ter	p.E175*	ENST00000307786	NM_138705.2	175	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS30566.1	523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGAGTCC	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF127,hmmpanther:PTHR23050,SMART_domains:SM00054	.	.	ENSP00000304643	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000307786	Transcript	.	.	ENSG00000169885	24193	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALL6_HUMAN	CALML6	HGNC	.	.	UPI000034EC9B	SNV	CALML6,stop_gained,p.Glu158Ter,ENST00000378604,;CALML6,stop_gained,p.Glu175Ter,ENST00000307786,;TMEM52,downstream_gene_variant,,ENST00000310991,;TMEM52,downstream_gene_variant,,ENST00000416272,;TMEM52,downstream_gene_variant,,ENST00000378598,;TMEM52,downstream_gene_variant,,ENST00000378602,;CALML6,downstream_gene_variant,,ENST00000462293,;CALML6,non_coding_transcript_exon_variant,,ENST00000482402,;C1orf222,downstream_gene_variant,,ENST00000464311,;TMEM52,downstream_gene_variant,,ENST00000602604,;TMEM52,downstream_gene_variant,,ENST00000470931,;C1orf222,downstream_gene_variant,,ENST00000412120,;	977	83	77	SUCCESS
CRB1	23418	.	GRCh37	1	197313448	197313448	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	47	117	0	ENST00000367400.3:c.690C>T	p.Ser230=	p.S230=	ENST00000367400	NM_201253.2	230	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1390.1	690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCCCAGCC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24049,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000356370	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,synonymous_variant,p.%3D,ENST00000535699,;CRB1,synonymous_variant,p.%3D,ENST00000538660,;CRB1,synonymous_variant,p.%3D,ENST00000367400,;CRB1,5_prime_UTR_variant,,ENST00000543483,;CRB1,intron_variant,,ENST00000367399,;CRB1,synonymous_variant,p.%3D,ENST00000484075,;CRB1,non_coding_transcript_exon_variant,,ENST00000475659,;	825	117	72	SUCCESS
LAMB3	3914	.	GRCh37	1	209796891	209796891	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	7	196	0	ENST00000356082.4:c.2317G>A	p.Glu773Lys	p.E773K	ENST00000356082	NM_000228.2	773	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1487.1	2317	MUTECT|MUSE	.	CATCTCCAGCC	NONE	.	.	hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574	.	.	ENSP00000375778	.	15/22	.	.	.	.	.	.	.	.	COSM3482866	15/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.063)	.	tolerated(0.08)	1	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,missense_variant,p.Glu773Lys,ENST00000356082,;LAMB3,missense_variant,p.Glu773Lys,ENST00000391911,;LAMB3,missense_variant,p.Glu773Lys,ENST00000367030,;LAMB3,upstream_gene_variant,,ENST00000455193,;MIR4260,upstream_gene_variant,,ENST00000583107,;	2707	196	245	SUCCESS
TMEM206	0	.	GRCh37	1	212548579	212548580	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	215	72	168	0	ENST00000535273.1:c.1029dup	p.Val344CysfsTer4	p.V344Cfs*4	ENST00000535273	NM_001198862.1	343	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS55687.1	1029-1030	VARSCANI*|PINDEL	.	GACCACAAAAA	NONE	.	.	hmmpanther:PTHR16087:SF0,hmmpanther:PTHR16087,Pfam_domain:PF15122	.	.	ENSP00000438863	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000535273	Transcript	.	.	ENSG00000065600	25593	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM206_HUMAN	TMEM206	HGNC	B4DHQ5_HUMAN	.	UPI0001914DBE	insertion	TMEM206,frameshift_variant,p.Val283CysfsTer4,ENST00000261455,;TMEM206,frameshift_variant,p.Val344CysfsTer4,ENST00000535273,;TMEM206,non_coding_transcript_exon_variant,,ENST00000478166,;TMEM206,downstream_gene_variant,,ENST00000467822,;	1173-1174	168	287	SUCCESS
WNT9A	7483	.	GRCh37	1	228111870	228111870	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	66	170	0	ENST00000272164.5:c.584T>G	p.Val195Gly	p.V195G	ENST00000272164	NM_003395.2	195	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS31045.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCACACGG	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF75,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000272164	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000272164	Transcript	.	.	ENSG00000143816	12778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.02)	.	WNT9A_HUMAN	WNT9A	HGNC	D9ZGG3_HUMAN	.	UPI000005104B	SNV	WNT9A,missense_variant,p.Val195Gly,ENST00000272164,;	595	170	183	SUCCESS
OBSCN	84033	.	GRCh37	1	228525039	228525039	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	82	222	1	ENST00000422127.1:c.16755C>T	p.Ile5585=	p.I5585=	ENST00000422127	NM_001098623.2	5585	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS59204.1	19626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCCAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	77/116	.	.	.	.	.	.	.	.	.	77/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000441106,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	19700	223	210	SUCCESS
FMN2	56776	.	GRCh37	1	240256917	240256917	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772527689	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	39	0	ENST00000319653.9:c.1508T>A	p.Leu503Gln	p.L503Q	ENST00000319653	NM_020066.4	503	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31069.2	1508	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGGAGC	NONE	.	.	hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	1/18	.	.	.	.	.	.	.	.	rs772527689	1/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Leu503Gln,ENST00000319653,;FMN2,intron_variant,,ENST00000447095,;	1738	39	37	SUCCESS
FMN2	56776	.	GRCh37	1	240371332	240371332	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	93	0	ENST00000319653.9:c.3220A>T	p.Ile1074Leu	p.I1074L	ENST00000319653	NM_020066.4	1074	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS31069.2	3220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCATACCC	BUFFER|p.A1215V|c.3644C>T|7,BUFFER|p.A1215A|c.3645G>A|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF06346,Pfam_domain:PF06346,SMART_domains:SM00498	.	.	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Ile1074Leu,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	3450	93	96	SUCCESS
FAM46B	0	.	GRCh37	1	27333377	27333377	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	47	81	0	ENST00000289166.5:c.336C>T	p.Ser112=	p.S112=	ENST00000289166	NM_052943.3	112	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS294.2	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGGCTGGC	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974:SF33,hmmpanther:PTHR12974	.	.	ENSP00000289166	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000289166	Transcript	.	.	ENSG00000158246	28273	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46B_HUMAN	FAM46B	HGNC	.	.	UPI0000374A6A	SNV	FAM46B,synonymous_variant,p.%3D,ENST00000289166,;	502	81	105	SUCCESS
EIF2B3	8891	.	GRCh37	1	45345676	45345676	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	45	110	0	ENST00000360403.2:c.789C>T	p.Ile263=	p.I263=	ENST00000360403	NM_020365.4	263	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS517.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAGATATC	NONE	.	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF8	.	.	ENSP00000353575	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000360403	Transcript	.	.	ENSG00000070785	3259	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BG_HUMAN	EIF2B3	HGNC	Q9HA31_HUMAN	.	UPI0000046983	SNV	EIF2B3,synonymous_variant,p.%3D,ENST00000360403,;EIF2B3,synonymous_variant,p.%3D,ENST00000372183,;EIF2B3,synonymous_variant,p.%3D,ENST00000439363,;EIF2B3,upstream_gene_variant,,ENST00000486491,;	916	110	118	SUCCESS
PRKACB	5567	.	GRCh37	1	84543803	84543803	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1557887994	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	24	0	ENST00000370689.2:c.-206C>T		p.*69*	ENST00000370689	NM_002731.2			0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605506	Transcript	.	.	ENSG00000271576	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-486G15.2	Clone_based_vega_gene	.	.	.	SNV	PRKACB,5_prime_UTR_variant,,ENST00000370689,;PRKACB,upstream_gene_variant,,ENST00000370688,;RP11-486G15.2,upstream_gene_variant,,ENST00000605506,;	.	24	22	SUCCESS
BRDT	676	.	GRCh37	1	92430272	92430272	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	297	170	498	2	ENST00000362005.3:c.281G>A	p.Cys94Tyr	p.C94Y	ENST00000362005	NM_001242805.1	94	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS735.1	281	RADIA|SOMATICSNIPER|VARSCANS	.	AGAATGTATAG	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133,PROSITE_patterns:PS00633,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503	.	.	ENSP00000354568	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000362005	Transcript	.	.	ENSG00000137948	1105	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BRDT_HUMAN	BRDT	HGNC	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN	.	UPI000013D0E1	SNV	BRDT,missense_variant,p.Cys94Tyr,ENST00000440509,;BRDT,missense_variant,p.Cys21Tyr,ENST00000370389,;BRDT,missense_variant,p.Cys94Tyr,ENST00000426141,;BRDT,missense_variant,p.Cys94Tyr,ENST00000548992,;BRDT,missense_variant,p.Cys94Tyr,ENST00000402388,;BRDT,missense_variant,p.Cys94Tyr,ENST00000450792,;BRDT,missense_variant,p.Cys94Tyr,ENST00000399546,;BRDT,missense_variant,p.Cys94Tyr,ENST00000427104,;BRDT,missense_variant,p.Cys21Tyr,ENST00000552654,;BRDT,missense_variant,p.Cys94Tyr,ENST00000362005,;BRDT,missense_variant,p.Cys94Tyr,ENST00000423434,;BRDT,missense_variant,p.Cys94Tyr,ENST00000448194,;BRDT,intron_variant,,ENST00000394530,;BRDT,downstream_gene_variant,,ENST00000449584,;BRDT,downstream_gene_variant,,ENST00000355011,;BRDT,downstream_gene_variant,,ENST00000457265,;	699	500	467	SUCCESS
TTPAL	79183	.	GRCh37	20	43108747	43108747	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	52	168	0	ENST00000262605.4:c.108A>T	p.Thr36=	p.T36=	ENST00000262605	NM_001039199.2	36	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13332.2	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACAGAAGA	NONE	.	.	hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF110	.	.	ENSP00000361995	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000372904	Transcript	.	.	ENSG00000124120	16114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTPAL_HUMAN	TTPAL	HGNC	B2RA57_HUMAN	.	UPI000020657C	SNV	TTPAL,synonymous_variant,p.%3D,ENST00000262605,;TTPAL,synonymous_variant,p.%3D,ENST00000372904,;TTPAL,synonymous_variant,p.%3D,ENST00000372906,;TTPAL,synonymous_variant,p.%3D,ENST00000456317,;	251	168	143	SUCCESS
GPCPD1	56261	.	GRCh37	20	5565200	5565201	+	intron_variant	Intron	INS	-	-	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	34	0	ENST00000379019.4:c.308-233_308-232insG		p.*103*	ENST00000379019	NM_019593.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13090.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAAAAAGAAG	NONE	.	.	.	.	.	ENSP00000368305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379019	Transcript	.	.	ENSG00000125772	26957	.	.	MODIFIER	5/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPCP1_HUMAN	GPCPD1	HGNC	D3DW07_HUMAN	.	UPI0000062241	insertion	GPCPD1,intron_variant,,ENST00000379019,;GPCPD1,non_coding_transcript_exon_variant,,ENST00000481038,;GPCPD1,intron_variant,,ENST00000481690,;	.	34	32	SUCCESS
KRTAP13-2	337959	.	GRCh37	21	31744028	31744028	+	synonymous_variant	Silent	SNP	T	T	A	rs758326589	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	52	147	0	ENST00000399889.2:c.504A>T	p.Ser168=	p.S168=	ENST00000399889	NM_181621.3	168	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13589.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTTGATCC	NONE	byFrequency	.	Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17	.	.	ENSP00000382777	.	1/1	.	.	.	.	.	.	.	.	rs758326589	1/1	PASS	ENST00000399889	Transcript	.	.	ENSG00000182816	18923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR132_HUMAN	KRTAP13-2	HGNC	.	.	UPI000003B46A	SNV	KRTAP13-2,synonymous_variant,p.%3D,ENST00000399889,;MIR4327,downstream_gene_variant,,ENST00000581194,;	530	147	136	SUCCESS
GGT3P	2679	.	GRCh37	22	18769191	18769191	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	605	104	660	0	ENST00000412448.1:n.1096A>T		p.*366*	ENST00000412448				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGTCAGCC	NONE	.	.	.	.	.	.	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000412448	Transcript	.	.	ENSG00000197421	4252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GGT3P	HGNC	.	.	.	SNV	GGT3P,non_coding_transcript_exon_variant,,ENST00000412448,;GGT3P,non_coding_transcript_exon_variant,,ENST00000453783,;	1096	661	710	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	23	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	23	27	SUCCESS
PISD	23761	.	GRCh37	22	32019822	32019822	+	intron_variant	Intron	DEL	G	G	-	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	44	139	0	ENST00000439502.2:c.322-1951del		p.*108*	ENST00000439502		23		0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS13899.1	67	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGCTGGGGGA	NONE	.	.	hmmpanther:PTHR10067	.	.	ENSP00000371586	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000382151	Transcript	.	.	ENSG00000241878	8999	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PISD_HUMAN	PISD	HGNC	B1AKN0_HUMAN,B1AKM9_HUMAN,B1AKM8_HUMAN	.	UPI000006F992	deletion	PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000397500,;PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000422020,;PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000266095,;PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000442379,;PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000429683,;PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000382151,;PISD,frameshift_variant,p.Gln23SerfsTer4,ENST00000431201,;PISD,intron_variant,,ENST00000336566,;PISD,intron_variant,,ENST00000435900,;PISD,intron_variant,,ENST00000439502,;PISD,non_coding_transcript_exon_variant,,ENST00000478893,;PISD,intron_variant,,ENST00000491342,;PISD,downstream_gene_variant,,ENST00000486675,;PISD,downstream_gene_variant,,ENST00000479851,;PISD,non_coding_transcript_exon_variant,,ENST00000473770,;PISD,intron_variant,,ENST00000460723,;PISD,intron_variant,,ENST00000437808,;PISD,intron_variant,,ENST00000474017,;	487	139	163	SUCCESS
LDOC1L	0	.	GRCh37	22	44892922	44892922	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	53	0	ENST00000341255.3:c.515A>G	p.Glu172Gly	p.E172G	ENST00000341255	NM_032287.2	172	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS33662.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTCTGCC	NONE	.	.	hmmpanther:PTHR15503:SF5,hmmpanther:PTHR15503	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.859)	.	deleterious(0)	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,missense_variant,p.Glu172Gly,ENST00000341255,;	1025	53	64	SUCCESS
ADM2	79924	.	GRCh37	22	50921204	50921204	+	synonymous_variant	Silent	SNP	C	C	A	rs770975376	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	46	102	0	ENST00000395737.1:c.319C>A	p.Arg107=	p.R107=	ENST00000395737		107	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33682.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCGAGTG	NONE	byFrequency	.	Pfam_domain:PF00214,hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF2	.	.	ENSP00000379087	.	2/2	.	.	.	.	.	.	.	.	rs770975376	2/2	PASS	ENST00000395738	Transcript	.	.	ENSG00000128165	28898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADM2_HUMAN	ADM2	HGNC	.	.	UPI00001B5BFA	SNV	ADM2,stop_gained,p.Cys23Ter,ENST00000362068,;ADM2,synonymous_variant,p.%3D,ENST00000395738,;ADM2,synonymous_variant,p.%3D,ENST00000395737,;MIOX,upstream_gene_variant,,ENST00000395732,;MIOX,upstream_gene_variant,,ENST00000451761,;MIOX,upstream_gene_variant,,ENST00000395733,;MIOX,upstream_gene_variant,,ENST00000216075,;	611	102	114	SUCCESS
SCN1A	6323	.	GRCh37	2	166870366	166870366	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	20	61	1	ENST00000303395.4:c.3593A>C	p.Glu1198Ala	p.E1198A	ENST00000303395		1198	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS54413.1	3593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTTCTTCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Pfam_domain:PF06512	.	.	ENSP00000303540	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.24)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Glu1170Ala,ENST00000409050,;SCN1A,missense_variant,p.Glu1198Ala,ENST00000423058,;SCN1A,missense_variant,p.Glu1198Ala,ENST00000303395,;SCN1A,missense_variant,p.Glu1187Ala,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,upstream_gene_variant,,ENST00000595268,;	3593	62	32	SUCCESS
MYT1L	23040	.	GRCh37	2	1893081	1893081	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	51	0	ENST00000399161.2:c.2452G>T	p.Asp818Tyr	p.D818Y	ENST00000399161	NM_015025.2	818	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS46222.1	2446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCCAGC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Pfam_domain:PF08474	.	.	ENSP00000396103	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Asp818Tyr,ENST00000399161,;MYT1L,missense_variant,p.Asp816Tyr,ENST00000428368,;MYT1L,3_prime_UTR_variant,,ENST00000602387,;MYT1L,non_coding_transcript_exon_variant,,ENST00000490585,;MYT1L,upstream_gene_variant,,ENST00000470954,;	3116	51	49	SUCCESS
FABP1	2168	.	GRCh37	2	88422691	88422691	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	72	155	0	ENST00000295834.3:c.334-68A>G		p.*112*	ENST00000295834	NM_001443.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2001.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCATAAAAA	NONE	.	.	.	.	.	ENSP00000295834	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295834	Transcript	.	.	ENSG00000163586	3555	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FABPL_HUMAN	FABP1	HGNC	Q6FGL7_HUMAN	.	UPI00000527AB	SNV	FABP1,3_prime_UTR_variant,,ENST00000393750,;FABP1,intron_variant,,ENST00000295834,;FABP1,non_coding_transcript_exon_variant,,ENST00000495375,;FABP1,downstream_gene_variant,,ENST00000472846,;	.	156	158	SUCCESS
GYG1	2992	.	GRCh37	3	148714621	148714621	+	synonymous_variant	Silent	SNP	C	C	T	rs937188326	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	65	0	ENST00000345003.4:c.411C>T	p.Phe137=	p.F137=	ENST00000345003	NM_004130.3	137	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS3139.1	411	MUTECT|MUSE	.	GTCTTCGTTTA	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR11183:SF18,hmmpanther:PTHR11183	.	.	ENSP00000340736	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000345003	Transcript	.	.	ENSG00000163754	4699	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GLYG_HUMAN	GYG1	HGNC	C9J8R8_HUMAN,C9J7C7_HUMAN	.	UPI000014176C	SNV	GYG1,synonymous_variant,p.%3D,ENST00000484197,;GYG1,synonymous_variant,p.%3D,ENST00000483267,;GYG1,synonymous_variant,p.%3D,ENST00000461191,;GYG1,synonymous_variant,p.%3D,ENST00000296048,;GYG1,synonymous_variant,p.%3D,ENST00000492285,;GYG1,synonymous_variant,p.%3D,ENST00000345003,;GYG1,downstream_gene_variant,,ENST00000473005,;GYG1,non_coding_transcript_exon_variant,,ENST00000497528,;GYG1,non_coding_transcript_exon_variant,,ENST00000478067,;GYG1,downstream_gene_variant,,ENST00000465547,;GYG1,upstream_gene_variant,,ENST00000488851,;	711	65	77	SUCCESS
IGSF10	285313	.	GRCh37	3	151161667	151161667	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	86	0	ENST00000282466.3:c.5068G>A	p.Asp1690Asn	p.D1690N	ENST00000282466	NM_178822.4	1690	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3160.1	5068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATCAAGTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000282466	.	5/6	.	.	.	.	.	.	.	.	COSM1130315	5/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.098)	.	deleterious(0.04)	1	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Asp1690Asn,ENST00000282466,;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	5068	86	99	SUCCESS
SCN5A	6331	.	GRCh37	3	38651412	38651412	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	38	134	0	ENST00000333535.4:c.747G>C	p.Lys249Asn	p.K249N	ENST00000333535		249	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS46799.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCTTCTT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000410257	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Lys249Asn,ENST00000449557,;SCN5A,missense_variant,p.Lys249Asn,ENST00000413689,;SCN5A,missense_variant,p.Lys249Asn,ENST00000423572,;SCN5A,missense_variant,p.Lys249Asn,ENST00000425664,;SCN5A,missense_variant,p.Lys249Asn,ENST00000414099,;SCN5A,missense_variant,p.Lys249Asn,ENST00000451551,;SCN5A,missense_variant,p.Lys249Asn,ENST00000450102,;SCN5A,missense_variant,p.Lys249Asn,ENST00000333535,;SCN5A,missense_variant,p.Lys249Asn,ENST00000455624,;SCN5A,missense_variant,p.Lys249Asn,ENST00000443581,;SCN5A,downstream_gene_variant,,ENST00000491944,;	941	134	131	SUCCESS
ADAD1	132612	.	GRCh37	4	123301299	123301299	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	77	171	0	ENST00000296513.2:c.75A>T	p.Pro25=	p.P25=	ENST00000296513	NM_139243.3	25	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34058.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAGTTCA	NONE	.	.	hmmpanther:PTHR10910:SF44,hmmpanther:PTHR10910	.	.	ENSP00000296513	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000296513	Transcript	.	.	ENSG00000164113	30713	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD1_HUMAN	ADAD1	HGNC	C9JGM6_HUMAN,C9JAT9_HUMAN	.	UPI000006DF76	SNV	ADAD1,synonymous_variant,p.%3D,ENST00000388724,;ADAD1,synonymous_variant,p.%3D,ENST00000296513,;ADAD1,synonymous_variant,p.%3D,ENST00000439307,;ADAD1,synonymous_variant,p.%3D,ENST00000446706,;ADAD1,synonymous_variant,p.%3D,ENST00000388725,;ADAD1,upstream_gene_variant,,ENST00000492454,;ADAD1,non_coding_transcript_exon_variant,,ENST00000464160,;	260	171	184	SUCCESS
ADAD1	132612	.	GRCh37	4	123305084	123305084	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	84	224	0	ENST00000296513.2:c.492A>G	p.Gln164=	p.Q164=	ENST00000296513	NM_139243.3	164	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS34058.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAACTGGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF44,hmmpanther:PTHR10910,Superfamily_domains:SSF54768	.	.	ENSP00000296513	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000296513	Transcript	.	.	ENSG00000164113	30713	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD1_HUMAN	ADAD1	HGNC	C9JGM6_HUMAN,C9JAT9_HUMAN	.	UPI000006DF76	SNV	ADAD1,synonymous_variant,p.%3D,ENST00000388724,;ADAD1,synonymous_variant,p.%3D,ENST00000296513,;ADAD1,synonymous_variant,p.%3D,ENST00000439307,;ADAD1,synonymous_variant,p.%3D,ENST00000388725,;ADAD1,downstream_gene_variant,,ENST00000446706,;ADAD1,non_coding_transcript_exon_variant,,ENST00000492454,;ADAD1,downstream_gene_variant,,ENST00000464160,;	677	224	211	SUCCESS
BBS12	166379	.	GRCh37	4	123663998	123663998	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	56	148	0	ENST00000314218.3:c.951T>A	p.Thr317=	p.T317=	ENST00000314218	NM_152618.2	317	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3728.1	951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTTGCTG	NONE	.	.	hmmpanther:PTHR11353:SF30,hmmpanther:PTHR11353,Pfam_domain:PF00118	.	.	ENSP00000438273	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000542236	Transcript	1	.	ENSG00000181004	26648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS12_HUMAN	BBS12	HGNC	C9J8H7_HUMAN	.	UPI0000231CAC	SNV	BBS12,synonymous_variant,p.%3D,ENST00000542236,;BBS12,synonymous_variant,p.%3D,ENST00000314218,;BBS12,downstream_gene_variant,,ENST00000433287,;	1332	148	157	SUCCESS
CC2D2A	57545	.	GRCh37	4	15482406	15482406	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	109	271	0	ENST00000424120.1:c.202C>G	p.Pro68Ala	p.P68A	ENST00000424120		68	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS47026.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCCCAAG	NONE	.	.	.	.	.	ENSP00000403465	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000424120	Transcript	1	.	ENSG00000048342	29253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.06)	.	C2D2A_HUMAN	CC2D2A	HGNC	D6R9V3_HUMAN	.	UPI000023731A	SNV	CC2D2A,missense_variant,p.Pro68Ala,ENST00000503292,;CC2D2A,missense_variant,p.Pro19Ala,ENST00000389652,;CC2D2A,missense_variant,p.Pro68Ala,ENST00000507954,;CC2D2A,missense_variant,p.Ala103Gly,ENST00000503658,;CC2D2A,missense_variant,p.Pro68Ala,ENST00000413206,;CC2D2A,missense_variant,p.Ala103Gly,ENST00000511544,;CC2D2A,missense_variant,p.Ala103Gly,ENST00000438599,;CC2D2A,missense_variant,p.Pro68Ala,ENST00000424120,;CC2D2A,missense_variant,p.Pro68Ala,ENST00000512702,;CC2D2A,missense_variant,p.Pro68Ala,ENST00000515124,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000513811,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000514450,;	456	271	321	SUCCESS
FAM198B	0	.	GRCh37	4	159048727	159048727	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	51	83	0	ENST00000393807.5:c.1416C>G	p.His472Gln	p.H472Q	ENST00000393807	NM_001031700.2	472	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS34087.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAAGTGCTG	NONE	.	.	hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF1,Pfam_domain:PF15051	.	.	ENSP00000377396	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393807	Transcript	.	.	ENSG00000164125	25312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	tolerated(0.28)	.	F198B_HUMAN	FAM198B	HGNC	K7EK71_HUMAN	.	UPI00003672A2	SNV	FAM198B,missense_variant,p.His170Gln,ENST00000590648,;FAM198B,missense_variant,p.His472Gln,ENST00000393807,;FAM198B,missense_variant,p.His464Gln,ENST00000296530,;FAM198B,missense_variant,p.His98Gln,ENST00000592586,;FAM198B,missense_variant,p.His464Gln,ENST00000585682,;FAM198B,downstream_gene_variant,,ENST00000593260,;FAM198B,downstream_gene_variant,,ENST00000589306,;	1823	83	112	SUCCESS
GALNT7	51809	.	GRCh37	4	174223196	174223196	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	85	0	ENST00000265000.4:c.1149-2A>T		p.X383_splice	ENST00000265000	NM_017423.2	383		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3815.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTAGGTCC	NONE	.	.	.	.	.	ENSP00000265000	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265000	Transcript	.	.	ENSG00000109586	4129	.	.	HIGH	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT7_HUMAN	GALNT7	HGNC	Q4W5F7_HUMAN	.	UPI000000DB3C	SNV	GALNT7,splice_acceptor_variant,,ENST00000265000,;GALNT7,splice_acceptor_variant,,ENST00000505308,;GALNT7,downstream_gene_variant,,ENST00000512285,;GALNT7,upstream_gene_variant,,ENST00000503213,;GALNT7,splice_acceptor_variant,,ENST00000506317,;	.	85	97	SUCCESS
TBC1D1	23216	.	GRCh37	4	38055878	38055878	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140253816	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	84	0	ENST00000261439.4:c.1969C>T	p.Arg657Trp	p.R657W	ENST00000261439	NM_015173.3	657	Cgg/Tgg	0	T:0.0002	.	.	.	.	T	R/W	protein_coding	YES	CCDS33972.1	1969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGGAGG	NONE	byCluster	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF204	.	T:0	ENSP00000261439	.	12/20	.	.	.	.	.	.	.	.	rs140253816	12/20	PASS	ENST00000261439	Transcript	.	.	ENSG00000065882	11578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	TBCD1_HUMAN	TBC1D1	HGNC	H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN	.	UPI0000367235	SNV	TBC1D1,missense_variant,p.Arg657Trp,ENST00000261439,;TBC1D1,missense_variant,p.Arg751Trp,ENST00000508802,;TBC1D1,missense_variant,p.Arg528Trp,ENST00000446803,;TBC1D1,missense_variant,p.Arg125Trp,ENST00000421339,;TBC1D1,missense_variant,p.Arg203Trp,ENST00000443855,;TBC1D1,downstream_gene_variant,,ENST00000513936,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000469803,;TBC1D1,downstream_gene_variant,,ENST00000509761,;TBC1D1,3_prime_UTR_variant,,ENST00000510573,;	2324	84	91	SUCCESS
SMAD5	4090	.	GRCh37	5	135510316	135510316	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs991396564	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	88	0	ENST00000545279.1:c.1249G>A	p.Val417Ile	p.V417I	ENST00000545279	NM_001001419.1	417	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	.	1249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGTCAAG	NONE	.	.	PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF36,Gene3D:2.60.200.10,Pfam_domain:PF03166,SMART_domains:SM00524,Superfamily_domains:SSF49879	.	.	ENSP00000441954	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000545279	Transcript	.	.	ENSG00000113658	6771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	tolerated(0.06)	.	SMAD5_HUMAN	SMAD5	HGNC	Q68DB7_HUMAN,F5GWU7_HUMAN,D6RIZ9_HUMAN,D6RBB4_HUMAN,D6R9D4_HUMAN	.	UPI000013C952	SNV	SMAD5,missense_variant,p.Val417Ile,ENST00000545620,;SMAD5,missense_variant,p.Val417Ile,ENST00000545279,;SMAD5,downstream_gene_variant,,ENST00000507637,;SMAD5,non_coding_transcript_exon_variant,,ENST00000514777,;SMAD5,non_coding_transcript_exon_variant,,ENST00000514641,;SMAD5,missense_variant,p.Val54Ile,ENST00000513418,;	1609	88	83	SUCCESS
TRPC7	57113	.	GRCh37	5	135693062	135693062	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	12	0	ENST00000513104.1:c.14G>C	p.Ser5Thr	p.S5T	ENST00000513104	NM_020389.2	5	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS47267.2	14	MUTECT|MUSE	.	AGGTGCTGTTC	NONE	.	.	Prints_domain:PR01648,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	2/12	.	.	.	.	.	.	.	.	COSM1061141,COSM1061143	2/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.017)	.	tolerated_low_confidence(0.17)	1,1	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Ser5Thr,ENST00000502753,;TRPC7,missense_variant,p.Ser5Thr,ENST00000378459,;TRPC7,missense_variant,p.Ser5Thr,ENST00000513104,;TRPC7,missense_variant,p.Ser5Thr,ENST00000426057,;TRPC7,missense_variant,p.Ser5Thr,ENST00000355180,;TRPC7,missense_variant,p.Ser5Thr,ENST00000352189,;TRPC7,missense_variant,p.Ser5Thr,ENST00000514963,;TRPC7,missense_variant,p.Ser5Thr,ENST00000503275,;	297	12	24	SUCCESS
CDC25C	995	.	GRCh37	5	137627755	137627755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	99	0	ENST00000323760.6:c.666C>A	p.Asn222Lys	p.N222K	ENST00000323760	NM_001790.3	222	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS4202.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGTTCAA	NONE	.	.	hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF28,Pfam_domain:PF06617	.	.	ENSP00000321656	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000323760	Transcript	.	.	ENSG00000158402	1727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.416)	.	tolerated(0.26)	.	MPIP3_HUMAN	CDC25C	HGNC	D6RJC2_HUMAN	.	UPI000013E3D2	SNV	CDC25C,missense_variant,p.Asn222Lys,ENST00000513970,;CDC25C,missense_variant,p.Asn192Lys,ENST00000356505,;CDC25C,missense_variant,p.Asn222Lys,ENST00000323760,;CDC25C,missense_variant,p.Asn179Lys,ENST00000357274,;CDC25C,missense_variant,p.Asn149Lys,ENST00000415130,;CDC25C,missense_variant,p.Asn149Lys,ENST00000348983,;CDC25C,missense_variant,p.Asn192Lys,ENST00000514555,;CDC25C,missense_variant,p.Asn222Lys,ENST00000503022,;CDC25C,missense_variant,p.Asn17Lys,ENST00000514017,;	945	99	111	SUCCESS
CTNNA1	1495	.	GRCh37	5	138223237	138223237	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	82	193	0	ENST00000302763.7:c.1202T>C	p.Leu401Pro	p.L401P	ENST00000302763	NM_001903.2	401	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS34243.1	1202	RADIA|MUTECT|MUSE	.	TCCACTTTTGG	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000304669	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,missense_variant,p.Leu31Pro,ENST00000521640,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000517656,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000522013,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000520522,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000520865,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000520260,;CTNNA1,missense_variant,p.Leu401Pro,ENST00000302763,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000518381,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000523298,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000523685,;CTNNA1,missense_variant,p.Leu298Pro,ENST00000355078,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000519634,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000540387,;CTNNA1,missense_variant,p.Leu401Pro,ENST00000518825,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000519116,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000521683,;CTNNA1,missense_variant,p.Leu31Pro,ENST00000517533,;CTNNA1,downstream_gene_variant,,ENST00000519768,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000520400,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000522052,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000517904,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000517534,;CTNNA1,downstream_gene_variant,,ENST00000523275,;	1292	193	178	SUCCESS
CTNNA1	1495	.	GRCh37	5	138223240	138223240	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	83	194	0	ENST00000302763.7:c.1205T>A	p.Leu402Ter	p.L402*	ENST00000302763	NM_001903.2	402	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS34243.1	1205	RADIA|MUTECT|MUSE	.	ACTTTTGGTAT	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000304669	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,stop_gained,p.Leu32Ter,ENST00000521640,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000517656,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000522013,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000520522,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000520865,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000520260,;CTNNA1,stop_gained,p.Leu402Ter,ENST00000302763,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000518381,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000523298,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000523685,;CTNNA1,stop_gained,p.Leu299Ter,ENST00000355078,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000519634,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000540387,;CTNNA1,stop_gained,p.Leu402Ter,ENST00000518825,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000519116,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000521683,;CTNNA1,stop_gained,p.Leu32Ter,ENST00000517533,;CTNNA1,downstream_gene_variant,,ENST00000519768,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000520400,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000522052,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000517904,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000517534,;CTNNA1,downstream_gene_variant,,ENST00000523275,;	1295	194	181	SUCCESS
PCDHB3	56132	.	GRCh37	5	140482111	140482111	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	52	0	ENST00000231130.2:c.1878C>T	p.Thr626=	p.T626=	ENST00000231130	NM_018937.2	626	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4245.1	1878	MUTECT|MUSE	.	CGCACCGCCAG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF19,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231130	.	1/1	.	.	.	.	.	.	.	.	COSM385368	1/1	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,synonymous_variant,p.%3D,ENST00000231130,;AC005754.7,upstream_gene_variant,,ENST00000607216,;	1878	52	56	SUCCESS
PCDHB10	56126	.	GRCh37	5	140574260	140574260	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782597685	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	54	0	ENST00000239446.4:c.2135C>T	p.Ala712Val	p.A712V	ENST00000239446	NM_018930.3	712	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4252.1	2135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCGGTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	rs782597685	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	tolerated_low_confidence(0.13)	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,missense_variant,p.Ala712Val,ENST00000239446,;PCDHB11,upstream_gene_variant,,ENST00000536699,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	2319	54	62	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140794696	140794696	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	11	126	0	ENST00000398610.2:c.1954G>T	p.Asp652Tyr	p.D652Y	ENST00000398610	NM_018913.2	652	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS47292.1	1954	MUTECT|MUSE|VARSCANS	.	TCCAGGACCAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Asp652Tyr,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	1954	126	135	SUCCESS
WDR70	55100	.	GRCh37	5	37396563	37396563	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	4	103	0	ENST00000265107.4:c.383G>A	p.Gly128Glu	p.G128E	ENST00000265107	NM_018034.2	128	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34147.1	383	MUTECT|MUSE	.	GGTAGGAAAAC	NONE	.	.	hmmpanther:PTHR16017,hmmpanther:PTHR16017:SF0	.	.	ENSP00000265107	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000265107	Transcript	.	.	ENSG00000082068	25495	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.72)	.	WDR70_HUMAN	WDR70	HGNC	.	.	UPI0000049FC2	SNV	WDR70,missense_variant,p.Gly128Glu,ENST00000265107,;WDR70,missense_variant,p.Gly128Glu,ENST00000504564,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;	539	103	99	SUCCESS
MAST4	375449	.	GRCh37	5	66386029	66386029	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	60	0	ENST00000403625.2:c.803G>C	p.Ser268Thr	p.S268T	ENST00000403625	NM_001164664.1	268	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS54861.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGTGCCT	NONE	.	.	Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139,Low_complexity_(Seg):seg	.	.	ENSP00000385727	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Ser79Thr,ENST00000403666,;MAST4,missense_variant,p.Ser268Thr,ENST00000404260,;MAST4,missense_variant,p.Ser79Thr,ENST00000490016,;MAST4,missense_variant,p.Ser86Thr,ENST00000405643,;MAST4,missense_variant,p.Ser59Thr,ENST00000432426,;MAST4,missense_variant,p.Ser268Thr,ENST00000403625,;MAST4,missense_variant,p.Ser74Thr,ENST00000261569,;MAST4,missense_variant,p.Ser74Thr,ENST00000436277,;MAST4,missense_variant,p.Ser74Thr,ENST00000447738,;	1098	60	65	SUCCESS
CLVS2	134829	.	GRCh37	6	123318708	123318708	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	52	0	ENST00000275162.5:c.-215A>G		p.*72*	ENST00000275162	NM_001010852.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34525.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGAAGAAG	NONE	.	.	.	.	.	ENSP00000275162	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000275162	Transcript	.	.	ENSG00000146352	23046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLVS2_HUMAN	CLVS2	HGNC	.	.	UPI000013DA49	SNV	CLVS2,5_prime_UTR_variant,,ENST00000275162,;CLVS2,intron_variant,,ENST00000368438,;	1121	52	44	SUCCESS
PTPRK	5796	.	GRCh37	6	128540089	128540089	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	124	0	ENST00000368215.3:c.846T>C	p.Asn282=	p.N282=	ENST00000368215		282	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS47473.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAATTGGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134	.	.	ENSP00000357196	.	6/31	.	.	.	.	.	.	.	.	COSM1440367,COSM1440366	6/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	SNV	PTPRK,synonymous_variant,p.%3D,ENST00000532331,;PTPRK,synonymous_variant,p.%3D,ENST00000368226,;PTPRK,synonymous_variant,p.%3D,ENST00000368215,;PTPRK,synonymous_variant,p.%3D,ENST00000368207,;PTPRK,synonymous_variant,p.%3D,ENST00000368210,;PTPRK,synonymous_variant,p.%3D,ENST00000368227,;PTPRK,synonymous_variant,p.%3D,ENST00000368213,;PTPRK,synonymous_variant,p.%3D,ENST00000490332,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,non_coding_transcript_exon_variant,,ENST00000498284,;PTPRK,non_coding_transcript_exon_variant,,ENST00000368205,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,downstream_gene_variant,,ENST00000495748,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	1071	124	104	SUCCESS
MDC1	9656	.	GRCh37	6	30672153	30672153	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	6	153	0	ENST00000376406.3:c.4807A>T	p.Arg1603Trp	p.R1603W	ENST00000376406	NM_014641.2	1603	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS34384.1	4807	MUTECT|MUSE	.	GGACCTATTTG	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,missense_variant,p.Arg1603Trp,ENST00000376406,;MDC1,missense_variant,p.Arg1339Trp,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000492462,;MDC1,upstream_gene_variant,,ENST00000489540,;	5455	153	145	SUCCESS
PHF3	23469	.	GRCh37	6	64395611	64395611	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	65	183	0	ENST00000262043.3:c.1988T>A	p.Leu663Gln	p.L663Q	ENST00000262043		663	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4966.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTGAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914	.	.	ENSP00000262043	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000262043	Transcript	.	.	ENSG00000118482	8921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.14)	.	PHF3_HUMAN	PHF3	HGNC	E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN	.	UPI000007154D	SNV	PHF3,missense_variant,p.Leu663Gln,ENST00000393387,;PHF3,missense_variant,p.Leu477Gln,ENST00000506783,;PHF3,missense_variant,p.Leu575Gln,ENST00000481385,;PHF3,missense_variant,p.Leu663Gln,ENST00000509330,;PHF3,missense_variant,p.Leu663Gln,ENST00000262043,;PHF3,missense_variant,p.Leu616Gln,ENST00000494284,;PHF3,intron_variant,,ENST00000515594,;PHF3,downstream_gene_variant,,ENST00000514822,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	2328	183	156	SUCCESS
HBP1	26959	.	GRCh37	7	106827063	106827063	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	69	215	0	ENST00000222574.4:c.702T>G	p.Val234=	p.V234=	ENST00000222574	NM_012257.3	234	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS5741.1	702	RADIA|MUTECT|MUSE	.	GATGTTGAAGA	NONE	.	.	PROSITE_profiles:PS51148,hmmpanther:PTHR15499:SF2,hmmpanther:PTHR15499,Pfam_domain:PF08517,SMART_domains:SM00536,Superfamily_domains:0041756	.	.	ENSP00000222574	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000222574	Transcript	.	.	ENSG00000105856	23200	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HBP1_HUMAN	HBP1	HGNC	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN	.	UPI000006DC04	SNV	HBP1,synonymous_variant,p.%3D,ENST00000468410,;HBP1,synonymous_variant,p.%3D,ENST00000222574,;HBP1,synonymous_variant,p.%3D,ENST00000485846,;HBP1,synonymous_variant,p.%3D,ENST00000498408,;HBP1,downstream_gene_variant,,ENST00000464009,;HBP1,downstream_gene_variant,,ENST00000479011,;HBP1,downstream_gene_variant,,ENST00000478930,;HBP1,downstream_gene_variant,,ENST00000497535,;HBP1,non_coding_transcript_exon_variant,,ENST00000461963,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;HBP1,upstream_gene_variant,,ENST00000483809,;	888	215	181	SUCCESS
HBP1	26959	.	GRCh37	7	106827072	106827072	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	67	222	0	ENST00000222574.4:c.711T>G	p.Phe237Leu	p.F237L	ENST00000222574	NM_012257.3	237	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS5741.1	711	RADIA|MUTECT|MUSE	.	GATTTTGCTAG	NONE	.	.	PROSITE_profiles:PS51148,hmmpanther:PTHR15499:SF2,hmmpanther:PTHR15499,Pfam_domain:PF08517,SMART_domains:SM00536,Superfamily_domains:0041756	.	.	ENSP00000222574	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000222574	Transcript	.	.	ENSG00000105856	23200	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.055)	.	tolerated(1)	.	HBP1_HUMAN	HBP1	HGNC	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN	.	UPI000006DC04	SNV	HBP1,missense_variant,p.Phe237Leu,ENST00000468410,;HBP1,missense_variant,p.Phe237Leu,ENST00000222574,;HBP1,missense_variant,p.Phe237Leu,ENST00000485846,;HBP1,missense_variant,p.Phe229Leu,ENST00000498408,;HBP1,downstream_gene_variant,,ENST00000464009,;HBP1,downstream_gene_variant,,ENST00000479011,;HBP1,downstream_gene_variant,,ENST00000478930,;HBP1,downstream_gene_variant,,ENST00000497535,;HBP1,non_coding_transcript_exon_variant,,ENST00000461963,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;HBP1,upstream_gene_variant,,ENST00000483809,;	897	222	181	SUCCESS
HBP1	26959	.	GRCh37	7	106827075	106827075	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	66	226	0	ENST00000222574.4:c.714T>C	p.Ala238=	p.A238=	ENST00000222574	NM_012257.3	238	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS5741.1	714	RADIA|MUTECT|MUSE	.	TTTGCTAGAGC	NONE	.	.	PROSITE_profiles:PS51148,hmmpanther:PTHR15499:SF2,hmmpanther:PTHR15499,Pfam_domain:PF08517,SMART_domains:SM00536,Superfamily_domains:0041756	.	.	ENSP00000222574	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000222574	Transcript	.	.	ENSG00000105856	23200	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HBP1_HUMAN	HBP1	HGNC	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN	.	UPI000006DC04	SNV	HBP1,synonymous_variant,p.%3D,ENST00000468410,;HBP1,synonymous_variant,p.%3D,ENST00000222574,;HBP1,synonymous_variant,p.%3D,ENST00000485846,;HBP1,synonymous_variant,p.%3D,ENST00000498408,;HBP1,downstream_gene_variant,,ENST00000464009,;HBP1,downstream_gene_variant,,ENST00000479011,;HBP1,downstream_gene_variant,,ENST00000478930,;HBP1,downstream_gene_variant,,ENST00000497535,;HBP1,non_coding_transcript_exon_variant,,ENST00000461963,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;HBP1,upstream_gene_variant,,ENST00000483809,;	900	226	179	SUCCESS
COG5	10466	.	GRCh37	7	106843989	106843989	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	85	0	ENST00000347053.3:c.2492T>A	p.Leu831His	p.L831H	ENST00000347053	NM_181733.2	831	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS5742.1	2555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAAGCAGC	NONE	.	.	hmmpanther:PTHR13228:SF3,hmmpanther:PTHR13228	.	.	ENSP00000297135	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000297135	Transcript	.	.	ENSG00000164597	14857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COG5_HUMAN	COG5	HGNC	U3KQU7_HUMAN,B3KMW0_HUMAN	.	UPI0000246D05	SNV	COG5,missense_variant,p.Leu831His,ENST00000347053,;COG5,missense_variant,p.Leu852His,ENST00000297135,;HBP1,downstream_gene_variant,,ENST00000468410,;HBP1,downstream_gene_variant,,ENST00000607681,;HBP1,downstream_gene_variant,,ENST00000222574,;COG5,downstream_gene_variant,,ENST00000393603,;HBP1,downstream_gene_variant,,ENST00000485846,;HBP1,downstream_gene_variant,,ENST00000461963,;HBP1,downstream_gene_variant,,ENST00000463202,;HBP1,downstream_gene_variant,,ENST00000463790,;	3080	85	79	SUCCESS
KIAA1549	57670	.	GRCh37	7	138602235	138602235	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766782097	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	61	1	ENST00000422774.1:c.2137C>T	p.Arg713Cys	p.R713C	ENST00000422774		713	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS56513.1	2137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACGGCTAG	NONE	byFrequency	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	.	.	ENSP00000416040	.	2/20	.	.	.	.	.	.	.	.	rs766782097	2/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	tolerated(0.16)	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,missense_variant,p.Arg713Cys,ENST00000422774,;KIAA1549,missense_variant,p.Arg663Cys,ENST00000242365,;KIAA1549,missense_variant,p.Arg713Cys,ENST00000440172,;	2186	62	86	SUCCESS
EPDR1	54749	.	GRCh37	7	37989827	37989827	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	153	0	ENST00000199448.4:c.504A>T	p.Thr168=	p.T168=	ENST00000199448	NM_017549.4	168	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5454.2	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACAGTCAA	NONE	.	.	hmmpanther:PTHR10697:SF1,hmmpanther:PTHR10697,Pfam_domain:PF00811,SMART_domains:SM00026	.	.	ENSP00000199448	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000199448	Transcript	.	.	ENSG00000086289	17572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPDR1_HUMAN	EPDR1	HGNC	D6RIH7_HUMAN	.	UPI000012EF12	SNV	EPDR1,synonymous_variant,p.%3D,ENST00000559325,;EPDR1,synonymous_variant,p.%3D,ENST00000199448,;EPDR1,synonymous_variant,p.%3D,ENST00000425345,;EPDR1,synonymous_variant,p.%3D,ENST00000476620,;EPDR1,3_prime_UTR_variant,,ENST00000423717,;SFRP4,intron_variant,,ENST00000447200,;	883	153	124	SUCCESS
ABCA13	154664	.	GRCh37	7	48313535	48313535	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	49	159	0	ENST00000435803.1:c.4272C>A	p.Phe1424Leu	p.F1424L	ENST00000435803	NM_152701.3	1424	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS47584.1	4272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTCAGAGA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	.	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Phe1424Leu,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	4296	159	145	SUCCESS
VKORC1L1	154807	.	GRCh37	7	65338522	65338522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	60	0	ENST00000360768.3:c.164G>T	p.Trp55Leu	p.W55L	ENST00000360768	NM_173517.4	55	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS5529.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGGGTGA	NONE	.	.	hmmpanther:PTHR14519,hmmpanther:PTHR14519:SF1,Pfam_domain:PF07884,SMART_domains:SM00756	.	.	ENSP00000353998	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000360768	Transcript	.	.	ENSG00000196715	21492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.6)	.	VKORL_HUMAN	VKORC1L1	HGNC	.	.	UPI000020E7D2	SNV	VKORC1L1,missense_variant,p.Trp55Leu,ENST00000434382,;VKORC1L1,missense_variant,p.Trp55Leu,ENST00000360768,;	269	60	70	SUCCESS
CYP3A5	1577	.	GRCh37	7	99247819	99247819	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	45	182	0	ENST00000222982.4:c.1290A>G	p.Ile430Met	p.I430M	ENST00000222982	NM_000777.3	430	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS5672.1	1290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTATATGTA	NONE	.	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24302:SF3,hmmpanther:PTHR24302	.	.	ENSP00000222982	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.14)	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,missense_variant,p.Ile430Met,ENST00000222982,;CYP3A5,missense_variant,p.Ile420Met,ENST00000343703,;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,downstream_gene_variant,,ENST00000488187,;	1390	182	180	SUCCESS
COL14A1	7373	.	GRCh37	8	121228707	121228707	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150549316	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	33	116	0	ENST00000297848.3:c.1715C>A	p.Ala572Glu	p.A572E	ENST00000297848	NM_021110.2	572	gCa/gAa	0	T:0	.	.	.	.	A	A/E	protein_coding	YES	CCDS34938.1	1715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCAGATG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	T:0.0001	ENSP00000297848	.	14/48	.	.	.	.	.	.	.	.	rs150549316,COSM603973	14/48	PASS	ENST00000297848	Transcript	1	.	ENSG00000187955	2191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	.	tolerated(0.07)	0,1	COEA1_HUMAN	COL14A1	HGNC	.	.	UPI000046D377	SNV	COL14A1,missense_variant,p.Ala329Glu,ENST00000523142,;COL14A1,missense_variant,p.Ala572Glu,ENST00000309791,;COL14A1,missense_variant,p.Ala385Glu,ENST00000434620,;COL14A1,missense_variant,p.Ala477Glu,ENST00000247781,;COL14A1,missense_variant,p.Ala572Glu,ENST00000297848,;COL14A1,3_prime_UTR_variant,,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,3_prime_UTR_variant,,ENST00000498051,;	1985	116	120	SUCCESS
TUSC3	7991	.	GRCh37	8	15508269	15508269	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779451208	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	44	91	0	ENST00000503731.1:c.372C>G	p.Asn124Lys	p.N124K	ENST00000503731	NM_006765.3	124	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS5994.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAACAAGCT	NONE	byFrequency	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000424544	.	3/11	.	.	.	.	.	.	.	.	rs779451208	3/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	tolerated(0.19)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Asn124Lys,ENST00000382020,;TUSC3,missense_variant,p.Asn78Lys,ENST00000511783,;TUSC3,missense_variant,p.Asn124Lys,ENST00000506802,;TUSC3,missense_variant,p.Asn124Lys,ENST00000509380,;TUSC3,missense_variant,p.Asn124Lys,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,intron_variant,,ENST00000503191,;TUSC3,missense_variant,p.Asn124Lys,ENST00000515859,;TUSC3,missense_variant,p.Asn124Lys,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000509177,;	520	91	86	SUCCESS
IMPA1	3612	.	GRCh37	8	82598148	82598148	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	52	136	0	ENST00000256108.5:c.-25+339G>A		p.*9*	ENST00000256108	NM_005536.3	1		0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS47883.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCCATCAC	NONE	.	.	.	.	.	ENSP00000408526	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000449740	Transcript	.	.	ENSG00000133731	6050	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	.	.	IMPA1_HUMAN	IMPA1	HGNC	E5RGY4_HUMAN,E5RG94_HUMAN	.	UPI000192950E	SNV	IMPA1,start_lost,p.Met1?,ENST00000522997,;IMPA1,start_lost,p.Met1?,ENST00000449740,;IMPA1,intron_variant,,ENST00000518202,;IMPA1,intron_variant,,ENST00000311489,;IMPA1,intron_variant,,ENST00000521360,;IMPA1,intron_variant,,ENST00000256108,;IMPA1,intron_variant,,ENST00000519964,;IMPA1,upstream_gene_variant,,ENST00000523942,;IMPA1,intron_variant,,ENST00000523710,;IMPA1,intron_variant,,ENST00000519816,;IMPA1,intron_variant,,ENST00000518188,;IMPA1,intron_variant,,ENST00000521979,;	83	136	139	SUCCESS
STXBP1	6812	.	GRCh37	9	130434340	130434340	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1174793467	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	67	0	ENST00000373299.1:c.974G>A	p.Arg325Gln	p.R325Q	ENST00000373299	NM_001032221.3	325	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6874.1	974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGGGACC	NONE	.	.	hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.90.830.10,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000362399	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000373302	Transcript	.	.	ENSG00000136854	11444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	deleterious(0.02)	.	STXB1_HUMAN	STXBP1	HGNC	.	.	UPI0000006C0B	SNV	STXBP1,missense_variant,p.Arg325Gln,ENST00000373302,;STXBP1,missense_variant,p.Arg325Gln,ENST00000373299,;STXBP1,non_coding_transcript_exon_variant,,ENST00000481942,;	1113	67	81	SUCCESS
NPDC1	56654	.	GRCh37	9	139938033	139938033	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	29	0	ENST00000371601.4:c.113-508G>C		p.*38*	ENST00000371601	NM_015392.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7024.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCTGCTC	NONE	.	.	.	.	.	ENSP00000360660	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371601	Transcript	.	.	ENSG00000107281	7899	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPDC1_HUMAN	NPDC1	HGNC	.	.	UPI00000361E2	SNV	NPDC1,5_prime_UTR_variant,,ENST00000371600,;NPDC1,intron_variant,,ENST00000371601,;ENTPD2,downstream_gene_variant,,ENST00000355097,;NPDC1,intron_variant,,ENST00000485589,;NPDC1,intron_variant,,ENST00000488145,;NPDC1,upstream_gene_variant,,ENST00000496498,;NPDC1,upstream_gene_variant,,ENST00000472668,;ENTPD2,downstream_gene_variant,,ENST00000460614,;	.	29	45	SUCCESS
CNTLN	54875	.	GRCh37	9	17416135	17416135	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1268183988	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	107	262	0	ENST00000380647.3:c.3062A>G	p.His1021Arg	p.H1021R	ENST00000380647		1021	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS43789.1	3062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCATCAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.39)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.His1021Arg,ENST00000425824,;CNTLN,missense_variant,p.His1021Arg,ENST00000262360,;CNTLN,missense_variant,p.His1021Arg,ENST00000380647,;CNTLN,non_coding_transcript_exon_variant,,ENST00000461247,;	3146	262	260	SUCCESS
MAGEB2	4113	.	GRCh37	X	30237136	30237136	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	70	99	0	ENST00000378988.4:c.439G>C	p.Glu147Gln	p.E147Q	ENST00000378988	NM_002364.4	147	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS14219.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGAGCAC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736:SF22,hmmpanther:PTHR11736,PROSITE_profiles:PS50838	.	.	ENSP00000368273	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378988	Transcript	.	.	ENSG00000099399	6809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.23)	.	MAGB2_HUMAN	MAGEB2	HGNC	.	.	UPI000013C683	SNV	MAGEB2,missense_variant,p.Glu147Gln,ENST00000378988,;	540	99	84	SUCCESS
HUWE1	10075	.	GRCh37	X	53672263	53672263	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	27	43	0	ENST00000262854.6:c.504G>A		p.X168_splice	ENST00000262854	NM_031407.5	168	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS35301.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCTCTGC	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Pfam_domain:PF06012	.	.	ENSP00000340648	.	6/83	.	.	.	.	.	.	.	.	.	6/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000218328,;HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;HUWE1,downstream_gene_variant,,ENST00000446750,;	962	43	35	SUCCESS
CHUK	1147	.	GRCh37	10	101982718	101982718	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	63	0	ENST00000370397.7:c.220G>T	p.Val74Leu	p.V74L	ENST00000370397	NM_001278.3	74	Gta/Tta	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS7488.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTACAACAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000359424	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.589)	.	deleterious(0.03)	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	SNV	CHUK,missense_variant,p.Val74Leu,ENST00000370397,;	307	63	43	SUCCESS
RSU1	6251	.	GRCh37	10	16859228	16859228	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	14	0	ENST00000345264.5:c.-4+86C>T		p.*2*	ENST00000345264	NM_012425.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7112.1	.	SOMATICSNIPER|VARSCANS	.	GGTGCGGGGAG	NONE	.	.	.	.	.	ENSP00000367154	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000377921	Transcript	.	.	ENSG00000148484	10464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSU1_HUMAN	RSU1	HGNC	.	.	UPI0000000C72	SNV	RSU1,5_prime_UTR_variant,,ENST00000377921,;RSU1,intron_variant,,ENST00000602389,;RSU1,intron_variant,,ENST00000345264,;RSU1,intron_variant,,ENST00000377911,;RSU1,intron_variant,,ENST00000464074,;	155	14	18	SUCCESS
APBB1IP	54518	.	GRCh37	10	26802578	26802578	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	348	33	286	0	ENST00000376236.4:c.806del	p.Asn269ThrfsTer22	p.N269Tfs*22	ENST00000376236	NM_019043.3	268	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS31167.1	802	INDELOCATOR*|VARSCANI*|PINDEL	.	GTATTTAAAAAC	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,Superfamily_domains:SSF54236	.	.	ENSP00000365411	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000376236	Transcript	.	.	ENSG00000077420	17379	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AB1IP_HUMAN	APBB1IP	HGNC	.	.	UPI00001AF165	deletion	APBB1IP,frameshift_variant,p.Asn269ThrfsTer22,ENST00000376236,;RNA5SP307,downstream_gene_variant,,ENST00000362863,;	1257	286	381	SUCCESS
SGMS1	259230	.	GRCh37	10	52071136	52071136	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	59	0	ENST00000361781.2:c.781A>C	p.Lys261Gln	p.K261Q	ENST00000361781	NM_147156.3	261	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS7240.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTTCATTA	NONE	.	.	hmmpanther:PTHR21290,hmmpanther:PTHR21290:SF28	.	.	ENSP00000354829	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000361781	Transcript	.	.	ENSG00000198964	29799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.298)	.	tolerated(0.39)	.	.	SGMS1	HGNC	R4GNI5_HUMAN,D3DWC4_HUMAN,E6ZCI7_HUMAN	.	UPI000000D9FC	SNV	SGMS1,missense_variant,p.Lys92Gln,ENST00000429490,;SGMS1,missense_variant,p.Lys261Gln,ENST00000361781,;SGMS1,missense_variant,p.Lys32Gln,ENST00000602619,;	1741	59	39	SUCCESS
GDI2	2665	.	GRCh37	10	5808025	5808025	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs749909436	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	89	0	ENST00000380191.4:c.1282G>T	p.Glu428Ter	p.E428*	ENST00000380191	NM_001494.3	428	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7071.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTCTGATC	NONE	byFrequency	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF1,Pfam_domain:PF00996,Superfamily_domains:SSF51905	.	.	ENSP00000369538	.	11/11	.	.	.	.	.	.	.	.	rs749909436	11/11	PASS	ENST00000380191	Transcript	.	.	ENSG00000057608	4227	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDIB_HUMAN	GDI2	HGNC	Q6IAT1_HUMAN,B3KVE3_HUMAN	.	UPI000012B39E	SNV	GDI2,stop_gained,p.Glu432Ter,ENST00000380132,;GDI2,stop_gained,p.Glu428Ter,ENST00000380191,;GDI2,stop_gained,p.Glu383Ter,ENST00000380181,;GDI2,3_prime_UTR_variant,,ENST00000447751,;FAM208B,downstream_gene_variant,,ENST00000328090,;GDI2,non_coding_transcript_exon_variant,,ENST00000479928,;FAM208B,downstream_gene_variant,,ENST00000459693,;FAM208B,downstream_gene_variant,,ENST00000487196,;	1573	89	94	SUCCESS
JMJD1C	221037	.	GRCh37	10	64936130	64936130	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777189076	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	33	156	0	ENST00000399262.2:c.7328A>G	p.Tyr2443Cys	p.Y2443C	ENST00000399262	NM_032776.1	2443	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS41532.1	7328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATATTCT	NONE	byFrequency	.	Superfamily_domains:SSF51197,SMART_domains:SM00558,Pfam_domain:PF02373,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6,PROSITE_profiles:PS51184	.	.	ENSP00000382204	.	24/26	.	.	.	.	.	.	.	.	rs777189076	24/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.01)	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,missense_variant,p.Tyr2443Cys,ENST00000399262,;JMJD1C,missense_variant,p.Tyr2261Cys,ENST00000542921,;JMJD1C,missense_variant,p.Tyr2206Cys,ENST00000402544,;JMJD1C,3_prime_UTR_variant,,ENST00000399251,;JMJD1C,downstream_gene_variant,,ENST00000327520,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000467356,;	7547	156	144	SUCCESS
GHITM	27069	.	GRCh37	10	85909910	85909910	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	37	69	0	ENST00000372134.3:c.692C>T	p.Thr231Ile	p.T231I	ENST00000372134	NM_014394.2	231	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS41542.1	692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACTGTGG	NONE	.	.	Pfam_domain:PF01027,hmmpanther:PTHR23291:SF32,hmmpanther:PTHR23291	.	.	ENSP00000361207	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000372134	Transcript	.	.	ENSG00000165678	17281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.08)	.	GHITM_HUMAN	GHITM	HGNC	Q9P099_HUMAN,Q658I8_HUMAN,Q5VT94_HUMAN,B4DPG9_HUMAN	.	UPI0000049DE6	SNV	GHITM,missense_variant,p.Thr231Ile,ENST00000372134,;	885	69	79	SUCCESS
CDHR1	92211	.	GRCh37	10	85958825	85958825	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1424495418	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	86	0	ENST00000372117.3:c.386A>G	p.Asn129Ser	p.N129S	ENST00000372117	NM_033100.3	129	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7372.1	386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAATGATG	BUFFER|p.E131K|c.391G>A|3,BUFFER|p.E131K|c.391G>A|3	.	.	Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,missense_variant,p.Asn129Ser,ENST00000372117,;CDHR1,missense_variant,p.Asn129Ser,ENST00000332904,;CDHR1,upstream_gene_variant,,ENST00000440770,;	489	86	62	SUCCESS
IDE	3416	.	GRCh37	10	94239137	94239137	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768663201	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	115	0	ENST00000265986.6:c.1781A>G	p.Tyr594Cys	p.Y594C	ENST00000265986	NM_004969.3	594	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7421.1	1781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATAGGCC	NONE	byFrequency	.	Superfamily_domains:SSF63411,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	.	.	ENSP00000265986	.	15/25	.	.	.	.	.	.	.	.	rs768663201	15/25	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.12)	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,missense_variant,p.Tyr39Cys,ENST00000371581,;IDE,missense_variant,p.Tyr594Cys,ENST00000265986,;IDE,non_coding_transcript_exon_variant,,ENST00000463640,;IDE,non_coding_transcript_exon_variant,,ENST00000462988,;IDE,intron_variant,,ENST00000496903,;IDE,downstream_gene_variant,,ENST00000492362,;IDE,3_prime_UTR_variant,,ENST00000478361,;	1838	115	84	SUCCESS
DDI1	414301	.	GRCh37	11	103908223	103908223	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	16	90	0	ENST00000302259.3:c.673G>C	p.Glu225Gln	p.E225Q	ENST00000302259	NM_001001711.2	225	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS31660.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGAAAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Pfam_domain:PF09668	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	tolerated(0.16)	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,missense_variant,p.Glu225Gln,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	916	90	85	SUCCESS
OPCML	4978	.	GRCh37	11	132812840	132812840	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	59	0	ENST00000331898.7:c.148G>C	p.Gly50Arg	p.G50R	ENST00000331898	NM_002545.3	50	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS8492.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCCTGCC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831,PROSITE_profiles:PS50835	.	.	ENSP00000330862	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000331898	Transcript	.	.	ENSG00000183715	8143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	OPCM_HUMAN	OPCML	HGNC	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN	.	UPI0000055AE0	SNV	OPCML,missense_variant,p.Gly9Arg,ENST00000374778,;OPCML,missense_variant,p.Gly50Arg,ENST00000541867,;OPCML,missense_variant,p.Gly43Arg,ENST00000524381,;OPCML,missense_variant,p.Gly50Arg,ENST00000331898,;OPCML,non_coding_transcript_exon_variant,,ENST00000525412,;OPCML,intron_variant,,ENST00000529038,;	727	59	45	SUCCESS
COPB1	1315	.	GRCh37	11	14490346	14490346	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	75	0	ENST00000249923.3:c.2026C>G	p.Leu676Val	p.L676V	ENST00000249923	NM_016451.4	676	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS7815.1	2026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTAGTTGCA	NONE	.	.	hmmpanther:PTHR10635,Pfam_domain:PF07718,PIRSF_domain:PIRSF005727	.	.	ENSP00000249923	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000249923	Transcript	.	.	ENSG00000129083	2231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	COPB_HUMAN	COPB1	HGNC	E9PP63_HUMAN,E9PKQ1_HUMAN	.	UPI000000103D	SNV	COPB1,missense_variant,p.Leu676Val,ENST00000439561,;COPB1,missense_variant,p.Leu676Val,ENST00000249923,;	2327	75	34	SUCCESS
LDHAL6A	160287	.	GRCh37	11	18478193	18478193	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	69	0	ENST00000280706.2:c.-35G>A		p.*12*	ENST00000280706	NM_144972.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGCTGTG	NONE	.	.	.	.	.	ENSP00000280706	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000280706	Transcript	.	.	ENSG00000166800	28335	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDH6A_HUMAN	LDHAL6A	HGNC	.	.	UPI00001B24AC	SNV	LDHAL6A,5_prime_UTR_variant,,ENST00000280706,;LDHAL6A,intron_variant,,ENST00000396213,;LDHC,downstream_gene_variant,,ENST00000541669,;	763	69	51	SUCCESS
OR9I1	219954	.	GRCh37	11	57886028	57886028	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372541402	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	33	0	ENST00000302610.1:c.889G>A	p.Val297Ile	p.V297I	ENST00000302610	NM_001005211.1	297	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31542.1	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTACATCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR26452:SF232,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302606	.	1/1	.	.	.	.	.	.	.	.	rs372541402	1/1	PASS	ENST00000302610	Transcript	.	.	ENSG00000172377	14718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	OR9I1_HUMAN	OR9I1	HGNC	.	.	UPI0000041B43	SNV	OR9I1,missense_variant,p.Val297Ile,ENST00000302610,;OR9Q1,intron_variant,,ENST00000335397,;	889	33	35	SUCCESS
AHNAK	79026	.	GRCh37	11	62291791	62291791	+	synonymous_variant	Silent	SNP	T	T	A	rs541565103	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	68	0	ENST00000378024.4:c.10098A>T	p.Thr3366=	p.T3366=	ENST00000378024	NM_001620.2	3366	acA/acT	0	.	C:0	.	C:0	.	A	T	protein_coding	YES	CCDS31584.1	10098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGTGTCTG	NONE	by1000G	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	C:0	.	ENSP00000367263	C:0	5/5	.	.	.	.	.	.	.	.	rs541565103	5/5	PASS	ENST00000378024	Transcript	.	C:0.0002	ENSG00000124942	347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,synonymous_variant,p.%3D,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	10373	68	54	SUCCESS
MRPL11	65003	.	GRCh37	11	66206280	66206280	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	10	78	0	ENST00000310999.7:c.-55A>G		p.*19*	ENST00000310999	NM_016050.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8139.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGGGCG	NONE	.	.	.	.	.	ENSP00000308897	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000310999	Transcript	.	.	ENSG00000174547	14042	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RM11_HUMAN	MRPL11	HGNC	.	.	UPI0000049CE5	SNV	MRPL11,5_prime_UTR_variant,,ENST00000329819,;MRPL11,5_prime_UTR_variant,,ENST00000430466,;MRPL11,5_prime_UTR_variant,,ENST00000310999,;MRPL11,upstream_gene_variant,,ENST00000528272,;MRPL11,intron_variant,,ENST00000524576,;MRPL11,5_prime_UTR_variant,,ENST00000534488,;	40	78	92	SUCCESS
MED17	9440	.	GRCh37	11	93521276	93521276	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	59	0	ENST00000251871.3:c.360G>C	p.Arg120Ser	p.R120S	ENST00000251871	NM_004268.4	120	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS8295.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGGGATAA	NONE	.	.	Pfam_domain:PF10156,hmmpanther:PTHR13114	.	.	ENSP00000251871	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000251871	Transcript	.	.	ENSG00000042429	2375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0)	.	MED17_HUMAN	MED17	HGNC	E9PJZ4_HUMAN	.	UPI000013CD1D	SNV	MED17,missense_variant,p.Arg12Ser,ENST00000528786,;MED17,missense_variant,p.Arg120Ser,ENST00000533359,;MED17,missense_variant,p.Arg120Ser,ENST00000530819,;MED17,missense_variant,p.Arg120Ser,ENST00000251871,;TAF1D,upstream_gene_variant,,ENST00000527690,;MED17,missense_variant,p.Arg120Ser,ENST00000533133,;MED17,upstream_gene_variant,,ENST00000525026,;	647	59	51	SUCCESS
ERP29	10961	.	GRCh37	12	112460383	112460383	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	49	0	ENST00000261735.3:c.713A>C	p.Lys238Thr	p.K238T	ENST00000261735	NM_006817.3	238	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS9158.1	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAAGGAGG	NONE	.	.	hmmpanther:PTHR12211,hmmpanther:PTHR12211:SF0,Pfam_domain:PF07749,Gene3D:1.20.1150.12,PIRSF_domain:PIRSF027352,Superfamily_domains:SSF47933	.	.	ENSP00000261735	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000261735	Transcript	.	.	ENSG00000089248	13799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	ERP29_HUMAN	ERP29	HGNC	F8VY02_HUMAN	.	UPI000012A0D9	SNV	ERP29,missense_variant,p.Lys238Thr,ENST00000261735,;ERP29,missense_variant,p.Lys137Thr,ENST00000546477,;ERP29,3_prime_UTR_variant,,ENST00000455836,;NAA25,downstream_gene_variant,,ENST00000261745,;ERP29,downstream_gene_variant,,ENST00000552052,;	863	49	54	SUCCESS
NOS1	4842	.	GRCh37	12	117658076	117658076	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	15	0	ENST00000317775.6:c.3976-2A>G		p.X1326_splice	ENST00000317775	NM_000620.4	1326		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55890.1	.	MUTECT|MUSE	.	ACTTCTGCAAG	NONE	.	.	.	.	.	ENSP00000337459	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	HIGH	26/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,splice_acceptor_variant,,ENST00000344089,;NOS1,splice_acceptor_variant,,ENST00000317775,;NOS1,splice_acceptor_variant,,ENST00000338101,;	.	15	15	SUCCESS
SPPL3	121665	.	GRCh37	12	121206182	121206182	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs150882911	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	55	0	ENST00000353487.2:c.719A>C	p.Asn240Thr	p.N240T	ENST00000353487	NM_139015.4	240	aAt/aCt	0	C:0.0009	C:0.0008	.	C:0.0014	.	G	N/T	protein_coding	YES	CCDS9208.1	719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATTGGGC	BUFFER|p.R243C|c.727C>T|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF22,Pfam_domain:PF04258,SMART_domains:SM00730	C:0	C:0.0001	ENSP00000288680	C:0	8/11	.	.	.	.	.	.	.	.	rs150882911	8/11	PASS	ENST00000353487	Transcript	.	C:0.0004	ENSG00000157837	30424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	C:0	tolerated(0.13)	.	SPPL3_HUMAN	SPPL3	HGNC	F5H7J2_HUMAN,F5H6I1_HUMAN,F5H4Y6_HUMAN,F5H4L1_HUMAN,F5H2A2_HUMAN	.	UPI0000013590	SNV	SPPL3,missense_variant,p.Asn240Thr,ENST00000353487,;SPPL3,downstream_gene_variant,,ENST00000543608,;SPPL3,downstream_gene_variant,,ENST00000536996,;SPPL3,downstream_gene_variant,,ENST00000543854,;SPPL3,non_coding_transcript_exon_variant,,ENST00000545209,;SPPL3,non_coding_transcript_exon_variant,,ENST00000392495,;	1223	55	41	SUCCESS
SLCO1B3	28234	.	GRCh37	12	21013982	21013982	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374152690	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	170	311	0	ENST00000261196.2:c.391C>A	p.Pro131Thr	p.P131T	ENST00000261196		131	Cca/Aca	0	A:0.0002	.	.	.	.	A	P/T	protein_coding	YES	CCDS8684.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATCCATCA	NONE	byCluster	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137	.	A:0	ENSP00000370956	.	6/16	.	.	.	.	.	.	.	.	rs374152690	6/16	PASS	ENST00000381545	Transcript	.	.	ENSG00000111700	10961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.26)	.	SO1B3_HUMAN	SLCO1B3	HGNC	F5H8K0_HUMAN	.	UPI000013544A	SNV	SLCO1B3,missense_variant,p.Pro131Thr,ENST00000553473,;SLCO1B3,missense_variant,p.Pro131Thr,ENST00000261196,;SLCO1B3,missense_variant,p.Pro131Thr,ENST00000540853,;LST3,missense_variant,p.Pro131Thr,ENST00000540229,;SLCO1B3,missense_variant,p.Pro131Thr,ENST00000381545,;SLCO1B7,intron_variant,,ENST00000554957,;LST3,intron_variant,,ENST00000381541,;SLCO1B3,upstream_gene_variant,,ENST00000544370,;SLCO1B3,non_coding_transcript_exon_variant,,ENST00000545880,;	610	312	233	SUCCESS
SLC38A2	54407	.	GRCh37	12	46754959	46754959	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	96	0	ENST00000256689.5:c.1456A>G	p.Met486Val	p.M486V	ENST00000256689	NM_018976.4	486	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8749.1	1456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATCACCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Pfam_domain:PF01490	.	.	ENSP00000256689	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000256689	Transcript	.	.	ENSG00000134294	13448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	S38A2_HUMAN	SLC38A2	HGNC	.	.	UPI000000121A	SNV	SLC38A2,missense_variant,p.Met486Val,ENST00000256689,;SLC38A2,missense_variant,p.Met324Val,ENST00000551374,;SLC38A2,downstream_gene_variant,,ENST00000548870,;SLC38A2,downstream_gene_variant,,ENST00000548111,;SLC38A2,downstream_gene_variant,,ENST00000547252,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000552703,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000546520,;SLC38A2,downstream_gene_variant,,ENST00000548785,;SLC38A2,downstream_gene_variant,,ENST00000552414,;SLC38A2,downstream_gene_variant,,ENST00000548236,;	1901	96	44	SUCCESS
ASB8	140461	.	GRCh37	12	48544981	48544981	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	rs778038299	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	57	0	ENST00000317697.3:c.234+3A>T		p.X78_splice	ENST00000317697	NM_024095.3	78		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8761.1	.	RADIA|MUSE	.	AACATTACCTC	NONE	.	.	.	.	.	ENSP00000320893	.	.	.	.	.	.	.	.	.	.	rs778038299	.	PASS	ENST00000317697	Transcript	.	.	ENSG00000177981	17183	.	.	LOW	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASB8_HUMAN	ASB8	HGNC	F8VS92_HUMAN,F5H7B4_HUMAN,F5H6A7_HUMAN,F5GZZ3_HUMAN	.	UPI00001260EB	SNV	ASB8,synonymous_variant,p.%3D,ENST00000535988,;ASB8,synonymous_variant,p.%3D,ENST00000540782,;ASB8,splice_region_variant,,ENST00000540212,;ASB8,splice_region_variant,,ENST00000536953,;ASB8,splice_region_variant,,ENST00000539503,;ASB8,splice_region_variant,,ENST00000535055,;ASB8,splice_region_variant,,ENST00000536549,;ASB8,splice_region_variant,,ENST00000545791,;ASB8,splice_region_variant,,ENST00000539528,;ASB8,splice_region_variant,,ENST00000536071,;ASB8,splice_region_variant,,ENST00000317697,;ASB8,downstream_gene_variant,,ENST00000548228,;PFKM,downstream_gene_variant,,ENST00000312352,;ASB8,intron_variant,,ENST00000537754,;ASB8,splice_region_variant,,ENST00000539464,;ASB8,splice_region_variant,,ENST00000539865,;ASB8,splice_region_variant,,ENST00000540143,;ASB8,splice_region_variant,,ENST00000536938,;	.	57	36	SUCCESS
DNAJC22	79962	.	GRCh37	12	49742904	49742904	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	27	47	0	ENST00000395069.3:c.249C>G	p.Ala83=	p.A83=	ENST00000395069	NM_024902.2	83	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8785.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCCAGGT	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000446830	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000549441	Transcript	.	.	ENSG00000178401	25802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DJC22_HUMAN	DNAJC22	HGNC	.	.	UPI000006D2CC	SNV	DNAJC22,synonymous_variant,p.%3D,ENST00000395069,;DNAJC22,synonymous_variant,p.%3D,ENST00000549441,;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,upstream_gene_variant,,ENST00000551153,;	1453	47	34	SUCCESS
KRT5	3852	.	GRCh37	12	52912936	52912936	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	61	105	0	ENST00000252242.4:c.564C>A	p.Phe188Leu	p.F188L	ENST00000252242	NM_000424.3	188	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS8830.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAACCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF159,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000252242	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000252242	Transcript	.	.	ENSG00000186081	6442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.734)	.	deleterious(0)	.	K2C5_HUMAN	KRT5	HGNC	Q9UEK9_HUMAN,F8VV57_HUMAN,B4DL32_HUMAN	.	UPI000013CD4B	SNV	KRT5,missense_variant,p.Phe188Leu,ENST00000252242,;KRT5,missense_variant,p.Phe78Leu,ENST00000549420,;KRT5,downstream_gene_variant,,ENST00000551275,;KRT5,upstream_gene_variant,,ENST00000548409,;KRT5,upstream_gene_variant,,ENST00000551188,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,non_coding_transcript_exon_variant,,ENST00000551013,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,upstream_gene_variant,,ENST00000547890,;KRT5,upstream_gene_variant,,ENST00000549511,;KRT5,upstream_gene_variant,,ENST00000552952,;	955	105	85	SUCCESS
ANKRD52	283373	.	GRCh37	12	56641954	56641954	+	synonymous_variant	Silent	SNP	G	G	A	rs755939369	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	30	0	ENST00000267116.7:c.1831C>T	p.Leu611=	p.L611=	ENST00000267116	NM_173595.3	611	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44920.1	1831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGATTCA	NONE	byFrequency	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000267116	.	18/28	.	.	.	.	.	.	.	.	rs755939369	18/28	PASS	ENST00000267116	Transcript	.	.	ENSG00000139645	26614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR52_HUMAN	ANKRD52	HGNC	.	.	UPI0000237861	SNV	ANKRD52,synonymous_variant,p.%3D,ENST00000267116,;ANKRD52,upstream_gene_variant,,ENST00000548241,;	1953	30	31	SUCCESS
LRP1	4035	.	GRCh37	12	57532258	57532258	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	99	0	ENST00000243077.3:c.84C>G	p.Ser28Arg	p.S28R	ENST00000243077	NM_002332.2	28	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS8932.1	84	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCCCAA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	2/89	.	.	.	.	.	.	.	.	.	2/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.877)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Ser28Arg,ENST00000338962,;LRP1,missense_variant,p.Ser28Arg,ENST00000243077,;LRP1,missense_variant,p.Ser28Arg,ENST00000553277,;LRP1,missense_variant,p.Ser28Arg,ENST00000554174,;	550	99	91	SUCCESS
GLIPR1	11010	.	GRCh37	12	75892688	75892688	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	64	0	ENST00000266659.3:c.731T>C	p.Ile244Thr	p.I244T	ENST00000266659	NM_006851.2	244	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS9011.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAATTCTAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10334:SF163,hmmpanther:PTHR10334	.	.	ENSP00000266659	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000266659	Transcript	.	.	ENSG00000139278	17001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	deleterious(0.04)	.	GLIP1_HUMAN	GLIPR1	HGNC	.	.	UPI000012B60F	SNV	GLIPR1,missense_variant,p.Ile244Thr,ENST00000266659,;KRR1,3_prime_UTR_variant,,ENST00000229214,;KRR1,downstream_gene_variant,,ENST00000438169,;GLIPR1,downstream_gene_variant,,ENST00000550491,;GLIPR1,downstream_gene_variant,,ENST00000456650,;GLIPR1,3_prime_UTR_variant,,ENST00000536703,;KRR1,downstream_gene_variant,,ENST00000551070,;	932	64	57	SUCCESS
ANKRD10	55608	.	GRCh37	13	111567223	111567223	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	15	65	0	ENST00000267339.2:c.59T>G	p.Leu20Arg	p.L20R	ENST00000267339	NM_017664.2	20	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS9520.1	59	RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGAGCAGC	NONE	.	.	hmmpanther:PTHR24203:SF11,hmmpanther:PTHR24203,Pfam_domain:PF12796	.	.	ENSP00000267339	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000267339	Transcript	.	.	ENSG00000088448	20265	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	ANR10_HUMAN	ANKRD10	HGNC	Q9NXQ9_HUMAN,Q9H6D6_HUMAN	.	UPI000013D744	SNV	ANKRD10,missense_variant,p.Leu20Arg,ENST00000375758,;ANKRD10,missense_variant,p.Leu20Arg,ENST00000267339,;ANKRD10,missense_variant,p.Leu20Arg,ENST00000310847,;ANKRD10,upstream_gene_variant,,ENST00000494859,;ANKRD10,upstream_gene_variant,,ENST00000460846,;ANKRD10,upstream_gene_variant,,ENST00000489973,;ANKRD10,missense_variant,p.Leu20Arg,ENST00000465753,;	194	65	117	SUCCESS
SIAH3	283514	.	GRCh37	13	46425801	46425801	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs199814084	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	75	0	ENST00000400405.2:c.-37G>A		p.*13*	ENST00000400405	NM_198849.2			0	T:0	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS41883.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCGGAGG	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000383256	T:0	1/2	.	.	.	.	.	.	.	.	rs199814084	1/2	PASS	ENST00000400405	Transcript	.	T:0.0002	ENSG00000215475	30553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SIAH3_HUMAN	SIAH3	HGNC	.	.	UPI00001C1F5A	SNV	SIAH3,5_prime_UTR_variant,,ENST00000400405,;	71	75	66	SUCCESS
SLAIN1	122060	.	GRCh37	13	78318570	78318570	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	28	36	0	ENST00000466548.1:c.850+3A>G		p.X284_splice	ENST00000466548	NM_001242868.1	284		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31995.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTATGTGT	NONE	.	.	.	.	.	ENSP00000418707	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000488699	Transcript	.	.	ENSG00000139737	26387	.	.	LOW	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLAI1_HUMAN	SLAIN1	HGNC	Q5T6P2_HUMAN,C9JUW9_HUMAN,C9JP03_HUMAN	.	UPI0001914D54	SNV	SLAIN1,splice_region_variant,,ENST00000474663,;SLAIN1,splice_region_variant,,ENST00000462234,;SLAIN1,splice_region_variant,,ENST00000441784,;SLAIN1,splice_region_variant,,ENST00000314070,;SLAIN1,splice_region_variant,,ENST00000422114,;SLAIN1,splice_region_variant,,ENST00000496045,;SLAIN1,splice_region_variant,,ENST00000446759,;SLAIN1,splice_region_variant,,ENST00000442759,;SLAIN1,splice_region_variant,,ENST00000418532,;SLAIN1,splice_region_variant,,ENST00000267219,;SLAIN1,splice_region_variant,,ENST00000466548,;SLAIN1,splice_region_variant,,ENST00000488699,;SLAIN1,splice_region_variant,,ENST00000351546,;SLAIN1,splice_region_variant,,ENST00000358679,;SLAIN1,downstream_gene_variant,,ENST00000377236,;SLAIN1,downstream_gene_variant,,ENST00000481614,;SLAIN1,non_coding_transcript_exon_variant,,ENST00000465831,;	.	36	39	SUCCESS
SLITRK5	26050	.	GRCh37	13	88330117	88330117	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778977432	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	20	104	0	ENST00000325089.6:c.2474G>T	p.Ser825Ile	p.S825I	ENST00000325089	NM_015567.1	825	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS9465.1	2474	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGCCACC	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	rs778977432	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.11)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Ser825Ile,ENST00000325089,;SLITRK5,missense_variant,p.Ser584Ile,ENST00000400028,;	2693	104	136	SUCCESS
GPR18	2841	.	GRCh37	13	99908040	99908040	+	synonymous_variant	Silent	SNP	A	A	G	rs371441036	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	105	0	ENST00000340807.3:c.87T>C	p.Tyr29=	p.Y29=	ENST00000340807		29	taT/taC	0	.	G:0	.	G:0	.	G	Y	protein_coding	YES	CCDS9491.1	87	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTATAGAA	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF1,hmmpanther:PTHR24232	G:0	.	ENSP00000343428	G:0	3/3	.	.	.	.	.	.	.	.	rs371441036	3/3	common_in_exac	ENST00000340807	Transcript	.	G:0.0122	ENSG00000125245	4472	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0.0624	.	.	GPR18_HUMAN	GPR18	HGNC	Q5JUH9_HUMAN,H9NIM1_HUMAN	.	UPI0000050424	SNV	GPR18,synonymous_variant,p.%3D,ENST00000416594,;GPR18,synonymous_variant,p.%3D,ENST00000340807,;GPR18,synonymous_variant,p.%3D,ENST00000397473,;GPR18,synonymous_variant,p.%3D,ENST00000397470,;UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;UBAC2,intron_variant,,ENST00000473091,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000468067,;	644	105	115	SUCCESS
TEP1	7011	.	GRCh37	14	20876563	20876563	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	36	0	ENST00000262715.5:c.36A>T	p.Pro12=	p.P12=	ENST00000262715	NM_007110.4	12	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9548.1	36	MUTECT|MUSE	.	ATGTCTGGATG	NONE	.	.	Pfam_domain:PF05386,PROSITE_profiles:PS51226	.	.	ENSP00000262715	.	2/55	.	.	.	.	.	.	.	.	COSM1514956	2/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,synonymous_variant,p.%3D,ENST00000556549,;TEP1,synonymous_variant,p.%3D,ENST00000556935,;TEP1,synonymous_variant,p.%3D,ENST00000262715,;TEP1,synonymous_variant,p.%3D,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	77	36	59	SUCCESS
HNRNPC	3183	.	GRCh37	14	21702133	21702133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	25	185	0	ENST00000420743.2:c.220A>G	p.Met74Val	p.M74V	ENST00000420743		74	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS41915.1	220	RADIA|MUTECT|MUSE|VARSCANS	.	AATCATTCTGC	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,PIRSF_domain:PIRSF037992,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PROSITE_profiles:PS50102	.	.	ENSP00000319690	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000320084	Transcript	.	.	ENSG00000092199	5035	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.235)	.	tolerated(0.69)	.	HNRPC_HUMAN	HNRNPC	HGNC	G3V575_HUMAN,G3V555_HUMAN,G3V4M8_HUMAN,G3V2H6_HUMAN	.	UPI000013C6E4	SNV	HNRNPC,missense_variant,p.Met74Val,ENST00000554969,;HNRNPC,missense_variant,p.Met74Val,ENST00000555883,;HNRNPC,missense_variant,p.Met74Val,ENST00000336053,;HNRNPC,missense_variant,p.Met74Val,ENST00000556513,;HNRNPC,missense_variant,p.Met74Val,ENST00000553753,;HNRNPC,missense_variant,p.Met74Val,ENST00000556897,;HNRNPC,missense_variant,p.Met74Val,ENST00000553300,;HNRNPC,missense_variant,p.Met74Val,ENST00000556142,;HNRNPC,missense_variant,p.Met74Val,ENST00000555176,;HNRNPC,missense_variant,p.Met74Val,ENST00000555309,;HNRNPC,missense_variant,p.Met74Val,ENST00000554383,;HNRNPC,missense_variant,p.Met74Val,ENST00000555137,;HNRNPC,missense_variant,p.Met74Val,ENST00000554455,;HNRNPC,missense_variant,p.Met74Val,ENST00000554891,;HNRNPC,missense_variant,p.Met74Val,ENST00000555914,;HNRNPC,missense_variant,p.Met74Val,ENST00000557201,;HNRNPC,missense_variant,p.Met74Val,ENST00000420743,;HNRNPC,missense_variant,p.Met74Val,ENST00000555215,;HNRNPC,missense_variant,p.Met74Val,ENST00000320084,;HNRNPC,missense_variant,p.Met74Val,ENST00000430246,;HNRNPC,missense_variant,p.Met74Val,ENST00000449098,;HNRNPC,missense_variant,p.Met74Val,ENST00000556226,;HNRNPC,intron_variant,,ENST00000556628,;HNRNPC,intron_variant,,ENST00000554539,;HNRNPC,downstream_gene_variant,,ENST00000557336,;HNRNPC,upstream_gene_variant,,ENST00000557157,;HNRNPC,downstream_gene_variant,,ENST00000557768,;HNRNPC,missense_variant,p.Met74Val,ENST00000557442,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000553614,;HNRNPC,upstream_gene_variant,,ENST00000554417,;	460	185	206	SUCCESS
NGDN	25983	.	GRCh37	14	23945267	23945267	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	12	57	0	ENST00000408901.3:c.450A>C	p.Glu150Asp	p.E150D	ENST00000408901	NM_015514.1	150	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS41926.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAAGCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13237	.	.	ENSP00000386134	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000408901	Transcript	.	.	ENSG00000129460	20271	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.44)	.	NGDN_HUMAN	NGDN	HGNC	G3V601_HUMAN,G3V4G1_HUMAN	.	UPI000006F7A0	SNV	NGDN,missense_variant,p.Glu150Asp,ENST00000408901,;NGDN,missense_variant,p.Glu150Asp,ENST00000397154,;NGDN,missense_variant,p.Glu125Asp,ENST00000555128,;NGDN,missense_variant,p.Glu98Asp,ENST00000556483,;NGDN,upstream_gene_variant,,ENST00000556699,;NGDN,upstream_gene_variant,,ENST00000556580,;NGDN,non_coding_transcript_exon_variant,,ENST00000556022,;NGDN,non_coding_transcript_exon_variant,,ENST00000553439,;NGDN,downstream_gene_variant,,ENST00000553336,;NGDN,upstream_gene_variant,,ENST00000556103,;NGDN,downstream_gene_variant,,ENST00000556378,;NGDN,downstream_gene_variant,,ENST00000556953,;	478	57	101	SUCCESS
RP11-66N24.3	0	.	GRCh37	14	24033989	24033989	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	24	0	ENST00000555968.1:n.831T>G		p.*277*	ENST00000555968				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9602.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATGATCC	NONE	.	.	.	.	.	ENSP00000312442	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308724	Transcript	.	.	ENSG00000213983	556	.	.	MODIFIER	7/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP1G2_HUMAN	AP1G2	HGNC	Q86U41_HUMAN,Q86U03_HUMAN,G3V532_HUMAN,G3V3Z2_HUMAN,G3V2V9_HUMAN	.	UPI0000124FE8	SNV	AP1G2,intron_variant,,ENST00000308724,;AP1G2,intron_variant,,ENST00000397120,;AP1G2,downstream_gene_variant,,ENST00000556843,;JPH4,downstream_gene_variant,,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000554477,;JPH4,downstream_gene_variant,,ENST00000397118,;THTPA,downstream_gene_variant,,ENST00000288014,;AP1G2,downstream_gene_variant,,ENST00000557189,;JPH4,downstream_gene_variant,,ENST00000356300,;RP11-66N24.3,non_coding_transcript_exon_variant,,ENST00000555968,;RP11-66N24.4,downstream_gene_variant,,ENST00000553985,;AP1G2,intron_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000555118,;AP1G2,upstream_gene_variant,,ENST00000555510,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554977,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556152,;AP1G2,intron_variant,,ENST00000535852,;AP1G2,intron_variant,,ENST00000460049,;AP1G2,intron_variant,,ENST00000465445,;AP1G2,downstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000556741,;AP1G2,downstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000555789,;AP1G2,downstream_gene_variant,,ENST00000554312,;AP1G2,downstream_gene_variant,,ENST00000553685,;AP1G2,downstream_gene_variant,,ENST00000556743,;AP1G2,downstream_gene_variant,,ENST00000554816,;AP1G2,upstream_gene_variant,,ENST00000557132,;AP1G2,downstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000557391,;AP1G2,upstream_gene_variant,,ENST00000557162,;AP1G2,upstream_gene_variant,,ENST00000554892,;AP1G2,upstream_gene_variant,,ENST00000555974,;AP1G2,downstream_gene_variant,,ENST00000557619,;AP1G2,upstream_gene_variant,,ENST00000554554,;AP1G2,downstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000556966,;AP1G2,downstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000554982,;AP1G2,downstream_gene_variant,,ENST00000553629,;	.	24	44	SUCCESS
NOVA1	4857	.	GRCh37	14	26917256	26917256	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	22	139	0	ENST00000539517.2:c.1433del	p.Pro478GlnfsTer10	p.P478Qfs*10	ENST00000539517	NM_002515.2	478	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS32061.1	1433	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGCTGGTGTT	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Pfam_domain:PF00013,Gene3D:3.30.1370.10,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288,PROSITE_profiles:PS50084	.	.	ENSP00000438875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	deletion	NOVA1,frameshift_variant,p.Pro478GlnfsTer10,ENST00000539517,;NOVA1,frameshift_variant,p.Pro454GlnfsTer10,ENST00000465357,;NOVA1,frameshift_variant,p.Pro356GlnfsTer10,ENST00000267422,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	1751	139	230	SUCCESS
BAZ1A	11177	.	GRCh37	14	35331372	35331372	+	synonymous_variant	Silent	SNP	T	T	C	rs761809864	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	20	139	0	ENST00000360310.1:c.270A>G	p.Leu90=	p.L90=	ENST00000360310	NM_013448.2	90	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9651.1	270	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTATAAAAC	NONE	.	.	PROSITE_profiles:PS51136,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145,Pfam_domain:PF10537	.	.	ENSP00000353458	.	3/27	.	.	.	.	.	.	.	.	rs761809864	3/27	PASS	ENST00000360310	Transcript	.	.	ENSG00000198604	960	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BAZ1A_HUMAN	BAZ1A	HGNC	D3DS96_HUMAN	.	UPI00001584D3	SNV	BAZ1A,synonymous_variant,p.%3D,ENST00000358716,;BAZ1A,synonymous_variant,p.%3D,ENST00000360310,;BAZ1A,synonymous_variant,p.%3D,ENST00000382422,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000553853,;BAZ1A,upstream_gene_variant,,ENST00000553573,;	838	139	174	SUCCESS
STYX	6815	.	GRCh37	14	53196987	53197025	+	5_prime_UTR_variant	5'UTR	DEL	CGACCCTCCTCTTCCCTGTCTTCGCCGCCGCCGCTGCTG	CGACCCTCCTCTTCCCTGTCTTCGCCGCCGCCGCTGCTG	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	CGACCCTCCTCTTCCCTGTCTTCGCCGCCGCCGCTGCTG	CGACCCTCCTCTTCCCTGTCTTCGCCGCCGCCGCTGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	31	0	ENST00000354586.4:c.-206_-168del		p.*69*	ENST00000354586	NM_145251.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9711.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GACGCCCGACCCTCCTCTTCCCTGTCTTCGCCGCCGCCGCTGCTGGAGTC	NONE	.	.	.	.	.	ENSP00000346599	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000354586	Transcript	.	.	ENSG00000198252	11447	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STYX_HUMAN	STYX	HGNC	.	.	UPI00000434EF	deletion	STYX,5_prime_UTR_variant,,ENST00000354586,;STYX,intron_variant,,ENST00000442123,;PSMC6,downstream_gene_variant,,ENST00000606149,;PSMC6,downstream_gene_variant,,ENST00000445930,;STYX,upstream_gene_variant,,ENST00000556861,;PSMC6,downstream_gene_variant,,ENST00000557557,;PSMC6,downstream_gene_variant,,ENST00000555175,;PSMC6,downstream_gene_variant,,ENST00000557632,;	88-126	31	74	SUCCESS
PLEKHG3	26030	.	GRCh37	14	65208353	65208353	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	54	0	ENST00000394691.1:c.2118A>G	p.Glu706=	p.E706=	ENST00000394691		706	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS32098.1	1950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAATCAGC	NONE	.	.	hmmpanther:PTHR22143:SF4,hmmpanther:PTHR22143	.	.	ENSP00000247226	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000247226	Transcript	.	.	ENSG00000126822	20364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHG3_HUMAN	PLEKHG3	HGNC	G3V311_HUMAN	.	UPI0000407D62	SNV	PLEKHG3,synonymous_variant,p.%3D,ENST00000247226,;PLEKHG3,synonymous_variant,p.%3D,ENST00000471182,;PLEKHG3,synonymous_variant,p.%3D,ENST00000484731,;PLEKHG3,synonymous_variant,p.%3D,ENST00000394691,;SPTB,downstream_gene_variant,,ENST00000389722,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	2258	54	78	SUCCESS
PCNX	0	.	GRCh37	14	71413714	71413714	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	13	91	0	ENST00000304743.2:c.236A>G	p.Tyr79Cys	p.Y79C	ENST00000304743	NM_014982.2	79	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9806.1	236	RADIA|MUTECT|MUSE|VARSCANS	.	CAACTATCGAC	NONE	.	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.713)	.	deleterious(0)	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,missense_variant,p.Tyr79Cys,ENST00000238570,;PCNX,missense_variant,p.Tyr79Cys,ENST00000439984,;PCNX,missense_variant,p.Tyr79Cys,ENST00000304743,;PCNX,downstream_gene_variant,,ENST00000554292,;PCNX,non_coding_transcript_exon_variant,,ENST00000553508,;PCNX,non_coding_transcript_exon_variant,,ENST00000554879,;	682	91	113	SUCCESS
VRTN	55237	.	GRCh37	14	74824495	74824495	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	42	47	0	ENST00000256362.4:c.1009C>G	p.Gln337Glu	p.Q337E	ENST00000256362	NM_018228.2	337	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9830.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCAGCGG	NONE	.	.	hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081	.	.	ENSP00000256362	.	2/2	.	.	.	.	.	.	.	.	COSM3497896	2/2	PASS	ENST00000256362	Transcript	.	.	ENSG00000133980	20223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.98)	.	tolerated(0.36)	1	VRTN_HUMAN	VRTN	HGNC	G3V537_HUMAN	.	UPI00000737D5	SNV	VRTN,missense_variant,p.Gln337Glu,ENST00000256362,;VRTN,downstream_gene_variant,,ENST00000557177,;	1250	47	80	SUCCESS
ZC2HC1C	79696	.	GRCh37	14	75537802	75537802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	25	81	0	ENST00000524913.1:c.526A>G	p.Arg176Gly	p.R176G	ENST00000524913	NM_024643.2	176	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS41972.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTAGGAAC	NONE	.	.	hmmpanther:PTHR14649	.	.	ENSP00000435550	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000524913	Transcript	.	.	ENSG00000119703	20354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	ZC21C_HUMAN	ZC2HC1C	HGNC	J3KMY6_HUMAN,G3V3E3_HUMAN,E9PNG2_HUMAN,E9PMG6_HUMAN,E9PJ43_HUMAN	.	UPI000059D27D	SNV	ZC2HC1C,missense_variant,p.Arg176Gly,ENST00000238686,;ZC2HC1C,missense_variant,p.Arg176Gly,ENST00000439583,;ZC2HC1C,missense_variant,p.Arg176Gly,ENST00000524913,;ZC2HC1C,missense_variant,p.Arg43Gly,ENST00000532198,;ZC2HC1C,downstream_gene_variant,,ENST00000525046,;ZC2HC1C,downstream_gene_variant,,ENST00000534151,;ACYP1,upstream_gene_variant,,ENST00000555463,;ZC2HC1C,downstream_gene_variant,,ENST00000554763,;ZC2HC1C,downstream_gene_variant,,ENST00000526130,;ZC2HC1C,intron_variant,,ENST00000526748,;	1015	81	140	SUCCESS
ATG2B	55102	.	GRCh37	14	96770845	96770845	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	98	0	ENST00000359933.4:c.4829T>C	p.Ile1610Thr	p.I1610T	ENST00000359933	NM_018036.5	1610	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS9944.2	4829	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTATTTCC	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	32/42	.	.	.	.	.	.	.	.	.	32/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.115)	.	deleterious(0)	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,missense_variant,p.Ile1610Thr,ENST00000359933,;ATG2B,non_coding_transcript_exon_variant,,ENST00000261834,;	5723	98	116	SUCCESS
SNRPN	6638	.	GRCh37	15	25222034	25222034	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	8	47	0	ENST00000346403.6:c.278C>A	p.Ala93Asp	p.A93D	ENST00000346403		93	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS10017.1	278	MUTECT|MUSE|VARSCANS	.	CATTGCTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10701:SF1,hmmpanther:PTHR10701,PIRSF_domain:PIRSF037187,Superfamily_domains:SSF50182	.	.	ENSP00000382972	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000400100	Transcript	1	.	ENSG00000128739	11164	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.56)	.	deleterious(0.02)	.	RSMN_HUMAN	SNRPN	HGNC	Q9UKR4_HUMAN,Q6LBS1_HUMAN,J3QLE5_HUMAN,J3KRY3_HUMAN	.	UPI000002948A	SNV	SNRPN,missense_variant,p.Ala93Asp,ENST00000400100,;SNRPN,missense_variant,p.Ala93Asp,ENST00000400098,;SNRPN,missense_variant,p.Ala93Asp,ENST00000400097,;SNRPN,missense_variant,p.Ala97Asp,ENST00000554227,;SNRPN,missense_variant,p.Ala93Asp,ENST00000390687,;SNRPN,missense_variant,p.Ala93Asp,ENST00000579070,;SNRPN,missense_variant,p.Ala97Asp,ENST00000444203,;SNRPN,missense_variant,p.Ala93Asp,ENST00000577565,;SNRPN,missense_variant,p.Ala93Asp,ENST00000346403,;SNURF,3_prime_UTR_variant,,ENST00000338094,;SNRPN,downstream_gene_variant,,ENST00000584968,;SNHG14,upstream_gene_variant,,ENST00000551631,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,3_prime_UTR_variant,,ENST00000580062,;SNURF,intron_variant,,ENST00000551312,;SNURF,intron_variant,,ENST00000557230,;SNHG14,upstream_gene_variant,,ENST00000557108,;	1168	47	85	SUCCESS
FAM98B	283742	.	GRCh37	15	38766446	38766446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	83	0	ENST00000491535.1:c.676A>G	p.Met226Val	p.M226V	ENST00000491535	NM_001042429.1	226	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS10047.2	676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTAATGAAA	NONE	.	.	hmmpanther:PTHR31353:SF8,hmmpanther:PTHR31353,Pfam_domain:PF10239	.	.	ENSP00000380734	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000397609	Transcript	.	.	ENSG00000171262	26773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.57)	.	FA98B_HUMAN	FAM98B	HGNC	.	.	UPI0000DA182F	SNV	FAM98B,missense_variant,p.Met226Val,ENST00000397609,;FAM98B,missense_variant,p.Met226Val,ENST00000491535,;FAM98B,intron_variant,,ENST00000559431,;FAM98B,downstream_gene_variant,,ENST00000305752,;	711	83	70	SUCCESS
MGA	23269	.	GRCh37	15	41988901	41988901	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	16	135	0	ENST00000219905.7:c.1693A>G	p.Ile565Val	p.I565V	ENST00000219905	NM_001164273.1	565	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55959.1	1693	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAATACTC	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.51)	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,missense_variant,p.Ile565Val,ENST00000219905,;MGA,missense_variant,p.Ile565Val,ENST00000563576,;MGA,missense_variant,p.Ile565Val,ENST00000570161,;MGA,missense_variant,p.Ile565Val,ENST00000545763,;MGA,missense_variant,p.Ile565Val,ENST00000389936,;MGA,missense_variant,p.Ile565Val,ENST00000566718,;MGA,missense_variant,p.Ile565Val,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000568630,;	1874	135	138	SUCCESS
UBR1	197131	.	GRCh37	15	43308056	43308056	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	39	0	ENST00000290650.4:c.3039del	p.Asp1013GlufsTer84	p.D1013Efs*84	ENST00000290650	NM_174916.2	1013	gaT/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS10091.1	3039	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTTTATCATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21497:SF27,hmmpanther:PTHR21497	.	.	ENSP00000290650	.	29/47	.	.	.	.	.	.	.	.	.	29/47	PASS	ENST00000290650	Transcript	1	.	ENSG00000159459	16808	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBR1_HUMAN	UBR1	HGNC	.	.	UPI0000074467	deletion	UBR1,frameshift_variant,p.Asp1013GlufsTer84,ENST00000290650,;UBR1,3_prime_UTR_variant,,ENST00000382177,;UBR1,non_coding_transcript_exon_variant,,ENST00000568782,;UBR1,non_coding_transcript_exon_variant,,ENST00000546274,;	3118	39	51	SUCCESS
MAPK6	5597	.	GRCh37	15	52356215	52356215	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	42	0	ENST00000261845.5:c.1184A>G	p.Gln395Arg	p.Q395R	ENST00000261845	NM_002748.3	395	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS10147.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACAAGTTG	NONE	.	.	hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF171	.	.	ENSP00000261845	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000261845	Transcript	.	.	ENSG00000069956	6879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	MK06_HUMAN	MAPK6	HGNC	.	.	UPI000012F177	SNV	MAPK6,missense_variant,p.Gln395Arg,ENST00000261845,;CTD-2184D3.5,intron_variant,,ENST00000558607,;	1991	42	42	SUCCESS
FAM214A	56204	.	GRCh37	15	52970254	52970254	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	61	0	ENST00000261844.7:c.-36A>G		p.*12*	ENST00000261844	NM_019600.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45263.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATGCACC	NONE	.	.	.	.	.	ENSP00000261844	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000261844	Transcript	.	.	ENSG00000047346	25609	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F214A_HUMAN	FAM214A	HGNC	Q6DKH7_HUMAN,Q658Z0_HUMAN,H3BUJ2_HUMAN,H3BU00_HUMAN,H3BTD0_HUMAN,H3BSJ2_HUMAN,H3BQ29_HUMAN,H0Y3Q9_HUMAN	.	UPI00001C1F8D	SNV	FAM214A,5_prime_UTR_variant,,ENST00000566768,;FAM214A,5_prime_UTR_variant,,ENST00000568863,;FAM214A,5_prime_UTR_variant,,ENST00000261844,;FAM214A,5_prime_UTR_variant,,ENST00000561490,;FAM214A,5_prime_UTR_variant,,ENST00000562135,;FAM214A,5_prime_UTR_variant,,ENST00000399202,;FAM214A,5_prime_UTR_variant,,ENST00000561543,;FAM214A,non_coding_transcript_exon_variant,,ENST00000562351,;FAM214A,5_prime_UTR_variant,,ENST00000534964,;	118	61	57	SUCCESS
CGNL1	84952	.	GRCh37	15	57734582	57734582	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	60	0	ENST00000281282.5:c.1709A>G	p.Asn570Ser	p.N570S	ENST00000281282	NM_032866.4	570	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS10161.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATAATGACG	NONE	.	.	hmmpanther:PTHR13140:SF357,hmmpanther:PTHR13140	.	.	ENSP00000281282	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000281282	Transcript	1	.	ENSG00000128849	25931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	tolerated(0.12)	.	CGNL1_HUMAN	CGNL1	HGNC	.	.	UPI000019B4EF	SNV	CGNL1,missense_variant,p.Asn570Ser,ENST00000281282,;CGNL1,downstream_gene_variant,,ENST00000559194,;	1787	60	59	SUCCESS
DENND4A	10260	.	GRCh37	15	65995317	65995317	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753927318	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	62	0	ENST00000431932.2:c.2117A>G	p.Asn706Ser	p.N706S	ENST00000431932	NM_005848.3	706	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS53949.1	2117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAATTGTTC	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	16/33	.	.	.	.	.	.	.	.	rs753927318	16/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.11)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Asn706Ser,ENST00000564674,;DENND4A,missense_variant,p.Asn706Ser,ENST00000443035,;DENND4A,missense_variant,p.Asn706Ser,ENST00000431932,;DENND4A,upstream_gene_variant,,ENST00000562028,;	2333	62	54	SUCCESS
IREB2	3658	.	GRCh37	15	78782771	78782771	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	28	176	0	ENST00000258886.8:c.2084A>G	p.Asn695Ser	p.N695S	ENST00000258886	NM_004136.2	695	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS10302.1	2084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAATAAAC	NONE	.	.	hmmpanther:PTHR11670:SF31,hmmpanther:PTHR11670,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF53732	.	.	ENSP00000258886	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000258886	Transcript	.	.	ENSG00000136381	6115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	IREB2_HUMAN	IREB2	HGNC	H0YLE0_HUMAN	.	UPI00001C1F8E	SNV	IREB2,missense_variant,p.Asn695Ser,ENST00000258886,;IREB2,upstream_gene_variant,,ENST00000559091,;IREB2,3_prime_UTR_variant,,ENST00000558570,;IREB2,downstream_gene_variant,,ENST00000559676,;	2233	176	173	SUCCESS
KIAA1199	0	.	GRCh37	15	81199078	81199078	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	36	130	0	ENST00000220244.3:c.1486C>A	p.Arg496=	p.R496=	ENST00000220244	NM_018689.1	496	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS10315.1	1486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCGGAAC	NONE	.	.	Superfamily_domains:SSF51126,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	SNV	KIAA1199,synonymous_variant,p.%3D,ENST00000356249,;KIAA1199,synonymous_variant,p.%3D,ENST00000220244,;KIAA1199,synonymous_variant,p.%3D,ENST00000394685,;RP11-351M8.1,intron_variant,,ENST00000560560,;RP11-351M8.1,upstream_gene_variant,,ENST00000561295,;RP11-351M8.2,intron_variant,,ENST00000560873,;RP11-351M8.1,intron_variant,,ENST00000558261,;	1905	130	115	SUCCESS
NTRK3	4916	.	GRCh37	15	88690618	88690618	+	synonymous_variant	Silent	SNP	G	G	T	rs149623569	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	113	0	ENST00000360948.2:c.412C>A	p.Arg138=	p.R138=	ENST00000360948	NM_001012338.2	138	Cgg/Agg	0	.	A:0.0008	.	A:0	.	T	R	protein_coding	YES	CCDS32322.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGGTTAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52058,Pfam_domain:PF13855,Gene3D:3.80.10.10,PROSITE_profiles:PS51450	A:0	.	ENSP00000354207	A:0	5/19	.	.	.	.	.	.	.	.	rs149623569	5/19	PASS	ENST00000360948	Transcript	1	A:0.0002	ENSG00000140538	8033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,synonymous_variant,p.%3D,ENST00000317501,;NTRK3,synonymous_variant,p.%3D,ENST00000559188,;NTRK3,synonymous_variant,p.%3D,ENST00000558676,;NTRK3,synonymous_variant,p.%3D,ENST00000557856,;NTRK3,synonymous_variant,p.%3D,ENST00000540489,;NTRK3,synonymous_variant,p.%3D,ENST00000394480,;NTRK3,synonymous_variant,p.%3D,ENST00000542733,;NTRK3,synonymous_variant,p.%3D,ENST00000357724,;NTRK3,synonymous_variant,p.%3D,ENST00000355254,;NTRK3,synonymous_variant,p.%3D,ENST00000360948,;MED28P6,upstream_gene_variant,,ENST00000558776,;	574	113	105	SUCCESS
DNASE1L2	1775	.	GRCh37	16	2287636	2287636	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	40	148	0	ENST00000320700.5:c.577A>C	p.Lys193Gln	p.K193Q	ENST00000320700	NM_001374.2	193	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS42105.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACAAGTGG	NONE	.	.	hmmpanther:PTHR11371:SF25,hmmpanther:PTHR11371,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00476,PIRSF_domain:PIRSF000988,Superfamily_domains:SSF56219,Prints_domain:PR00130	.	.	ENSP00000454562	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000564065	Transcript	.	.	ENSG00000167968	2958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0.03)	.	DNSL2_HUMAN	DNASE1L2	HGNC	Q6JVM3_HUMAN	.	UPI000012935A	SNV	DNASE1L2,missense_variant,p.Lys190Gln,ENST00000569184,;DNASE1L2,missense_variant,p.Lys193Gln,ENST00000567494,;DNASE1L2,missense_variant,p.Lys193Gln,ENST00000320700,;DNASE1L2,missense_variant,p.Lys172Gln,ENST00000382437,;DNASE1L2,missense_variant,p.Lys193Gln,ENST00000564065,;ECI1,downstream_gene_variant,,ENST00000570258,;ECI1,downstream_gene_variant,,ENST00000562238,;E4F1,downstream_gene_variant,,ENST00000565090,;E4F1,downstream_gene_variant,,ENST00000301727,;ECI1,downstream_gene_variant,,ENST00000566379,;ECI1,downstream_gene_variant,,ENST00000301729,;E4F1,downstream_gene_variant,,ENST00000565413,;E4F1,downstream_gene_variant,,ENST00000564139,;RP11-304L19.12,upstream_gene_variant,,ENST00000564055,;RP11-304L19.12,upstream_gene_variant,,ENST00000594097,;RP11-304L19.11,upstream_gene_variant,,ENST00000565709,;E4F1,downstream_gene_variant,,ENST00000562589,;E4F1,downstream_gene_variant,,ENST00000567111,;E4F1,downstream_gene_variant,,ENST00000563643,;E4F1,downstream_gene_variant,,ENST00000564930,;ECI1,downstream_gene_variant,,ENST00000563447,;E4F1,downstream_gene_variant,,ENST00000569796,;	1578	148	192	SUCCESS
COG7	91949	.	GRCh37	16	23430073	23430073	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	71	0	ENST00000307149.5:c.1085A>T	p.Tyr362Phe	p.Y362F	ENST00000307149	NM_153603.3	362	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10610.1	1085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCATACTTC	NONE	.	.	hmmpanther:PTHR21443,Pfam_domain:PF10191	.	.	ENSP00000305442	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000307149	Transcript	.	.	ENSG00000168434	18622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	tolerated(0.05)	.	COG7_HUMAN	COG7	HGNC	.	.	UPI0000127E42	SNV	COG7,missense_variant,p.Tyr362Phe,ENST00000307149,;RN7SKP23,upstream_gene_variant,,ENST00000517029,;COG7,upstream_gene_variant,,ENST00000567821,;	1271	71	80	SUCCESS
UBFD1	56061	.	GRCh37	16	23578364	23578364	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	50	0	ENST00000395878.3:c.793G>T	p.Glu265Ter	p.E265*	ENST00000395878	NM_019116.2	265	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10613.2	793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCGAAGGA	NONE	.	.	hmmpanther:PTHR16470	.	.	ENSP00000379217	.	6/7	.	.	.	.	.	.	.	.	COSM3420865,COSM3420866	6/7	PASS	ENST00000395878	Transcript	.	.	ENSG00000103353	30565	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	UBFD1_HUMAN	UBFD1	HGNC	H3BRL3_HUMAN,B3KW52_HUMAN	.	UPI00001FF0A3	SNV	UBFD1,stop_gained,p.Glu256Ter,ENST00000567212,;UBFD1,stop_gained,p.Glu489Ter,ENST00000219638,;UBFD1,stop_gained,p.Glu265Ter,ENST00000395878,;CTD-2196E14.6,upstream_gene_variant,,ENST00000568262,;UBFD1,non_coding_transcript_exon_variant,,ENST00000564106,;UBFD1,non_coding_transcript_exon_variant,,ENST00000563366,;UBFD1,downstream_gene_variant,,ENST00000571064,;UBFD1,non_coding_transcript_exon_variant,,ENST00000565634,;UBFD1,non_coding_transcript_exon_variant,,ENST00000566136,;	1174	50	70	SUCCESS
SEPHS2	22928	.	GRCh37	16	30456786	30456786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	41	40	0	ENST00000500504.2:c.263G>T	p.Gly88Val	p.G88V	ENST00000500504		88	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42150.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCCCCGG	NONE	.	.	TIGRFAM_domain:TIGR00476,hmmpanther:PTHR10256:SF1,hmmpanther:PTHR10256	.	.	ENSP00000426234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000500504	Transcript	.	.	ENSG00000179918	19686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	.	.	SPS2_HUMAN	SEPHS2	HGNC	B4E093_HUMAN	.	UPI00001678A0	SNV	SEPHS2,missense_variant,p.Gly88Val,ENST00000500504,;SEPHS2,missense_variant,p.Gly88Val,ENST00000478753,;SEPHS2,intron_variant,,ENST00000542752,;	263	40	73	SUCCESS
DYNC1LI2	1783	.	GRCh37	16	66757681	66757681	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	43	0	ENST00000258198.2:c.1423A>G	p.Met475Val	p.M475V	ENST00000258198	NM_006141.2	475	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS10818.1	1423	MUTECT|MUSE	.	AGTCATTCTAT	NONE	.	.	hmmpanther:PTHR12688,hmmpanther:PTHR12688:SF1,Pfam_domain:PF05783	.	.	ENSP00000258198	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000258198	Transcript	.	.	ENSG00000135720	2966	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.16)	.	deleterious(0.01)	.	DC1L2_HUMAN	DYNC1LI2	HGNC	.	.	UPI0000129A0D	SNV	DYNC1LI2,missense_variant,p.Met475Val,ENST00000258198,;DYNC1LI2,missense_variant,p.Met398Val,ENST00000443351,;DYNC1LI2,missense_variant,p.Met150Val,ENST00000569320,;DYNC1LI2,synonymous_variant,p.%3D,ENST00000563628,;DYNC1LI2,intron_variant,,ENST00000379482,;RP11-63M22.2,intron_variant,,ENST00000569274,;DYNC1LI2,3_prime_UTR_variant,,ENST00000564559,;DYNC1LI2,non_coding_transcript_exon_variant,,ENST00000567499,;DYNC1LI2,non_coding_transcript_exon_variant,,ENST00000568453,;DYNC1LI2,downstream_gene_variant,,ENST00000565532,;DYNC1LI2,downstream_gene_variant,,ENST00000564833,;	1630	43	31	SUCCESS
CDH1	999	.	GRCh37	16	68856096	68856096	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	56	109	0	ENST00000261769.5:c.1904G>T	p.Ser635Ile	p.S635I	ENST00000261769	NM_004360.3	635	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS10869.1	1904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGTGCCA	BUFFER|p.A634V|c.1901C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000261769	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.78)	.	tolerated(0.08)	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,missense_variant,p.Ser574Ile,ENST00000422392,;CDH1,missense_variant,p.Ser635Ile,ENST00000261769,;RP11-354M1.2,intron_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,3_prime_UTR_variant,,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,upstream_gene_variant,,ENST00000562118,;FTLP14,upstream_gene_variant,,ENST00000562087,;	2095	109	85	SUCCESS
AP1G1	164	.	GRCh37	16	71795430	71795430	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779499602	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	220	35	244	0	ENST00000299980.4:c.959A>G	p.Asn320Ser	p.N320S	ENST00000299980	NM_001128.5	320	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45522.1	968	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATTGTTC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037094,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23	.	.	ENSP00000377148	.	11/24	.	.	.	.	.	.	.	.	rs779499602	11/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.73)	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,missense_variant,p.Asn320Ser,ENST00000569748,;AP1G1,missense_variant,p.Asn343Ser,ENST00000433195,;AP1G1,missense_variant,p.Asn320Ser,ENST00000299980,;AP1G1,missense_variant,p.Asn323Ser,ENST00000423132,;AP1G1,missense_variant,p.Asn323Ser,ENST00000393512,;SNORD71,upstream_gene_variant,,ENST00000411292,;AP1G1,3_prime_UTR_variant,,ENST00000450149,;AP1G1,3_prime_UTR_variant,,ENST00000568327,;AP1G1,non_coding_transcript_exon_variant,,ENST00000565642,;AP1G1,intron_variant,,ENST00000565009,;AP1G1,intron_variant,,ENST00000566179,;	1410	245	256	SUCCESS
MVD	4597	.	GRCh37	16	88721693	88721693	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	50	0	ENST00000301012.3:c.811T>G	p.Phe271Val	p.F271V	ENST00000301012	NM_002461.1	271	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS10968.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGAAGGTGT	NONE	.	.	hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2,TIGRFAM_domain:TIGR01240,Gene3D:3.30.70.890,PIRSF_domain:PIRSF015950,Superfamily_domains:SSF55060	.	.	ENSP00000301012	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000301012	Transcript	.	.	ENSG00000167508	7529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	tolerated(0.12)	.	MVD1_HUMAN	MVD	HGNC	.	.	UPI000012A0C6	SNV	MVD,missense_variant,p.Phe271Val,ENST00000301012,;CYBA,upstream_gene_variant,,ENST00000567174,;CYBA,upstream_gene_variant,,ENST00000261623,;MVD,downstream_gene_variant,,ENST00000569177,;CYBA,upstream_gene_variant,,ENST00000568278,;CYBA,upstream_gene_variant,,ENST00000566229,;CYBA,upstream_gene_variant,,ENST00000569359,;MVD,downstream_gene_variant,,ENST00000565720,;MVD,downstream_gene_variant,,ENST00000568709,;MVD,downstream_gene_variant,,ENST00000563463,;CYBA,upstream_gene_variant,,ENST00000561972,;MVD,non_coding_transcript_exon_variant,,ENST00000565149,;CYBA,upstream_gene_variant,,ENST00000563526,;MVD,downstream_gene_variant,,ENST00000565610,;MVD,upstream_gene_variant,,ENST00000561895,;MVD,downstream_gene_variant,,ENST00000563785,;MVD,downstream_gene_variant,,ENST00000563170,;MVD,downstream_gene_variant,,ENST00000568133,;MVD,downstream_gene_variant,,ENST00000562651,;MVD,downstream_gene_variant,,ENST00000566636,;CYBA,upstream_gene_variant,,ENST00000562209,;MVD,upstream_gene_variant,,ENST00000562981,;MVD,downstream_gene_variant,,ENST00000567064,;CYBA,upstream_gene_variant,,ENST00000566534,;	841	50	54	SUCCESS
TMEM220	388335	.	GRCh37	17	10618803	10618803	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	33	317	1	ENST00000341871.3:c.450C>G	p.Ser150=	p.S150=	ENST00000341871	NM_001004313.1	150	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS32567.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGGACCG	NONE	.	.	.	.	.	ENSP00000339830	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000341871	Transcript	.	.	ENSG00000187824	33757	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM220_HUMAN	TMEM220	HGNC	.	.	UPI00001D79BC	SNV	TMEM220,synonymous_variant,p.%3D,ENST00000578345,;TMEM220,synonymous_variant,p.%3D,ENST00000341871,;TMEM220,synonymous_variant,p.%3D,ENST00000581949,;TMEM220,synonymous_variant,p.%3D,ENST00000455996,;TMEM220,intron_variant,,ENST00000580787,;ADPRM,downstream_gene_variant,,ENST00000379774,;ADPRM,downstream_gene_variant,,ENST00000609540,;TMEM220,non_coding_transcript_exon_variant,,ENST00000580186,;MAGOH2,downstream_gene_variant,,ENST00000584384,;ADPRM,downstream_gene_variant,,ENST00000468843,;MAGOH2,downstream_gene_variant,,ENST00000580926,;	915	318	221	SUCCESS
TOP3A	7156	.	GRCh37	17	18193904	18193904	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	40	0	ENST00000321105.5:c.1564G>C	p.Asp522His	p.D522H	ENST00000321105	NM_004618.3	522	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS11194.1	1564	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCGGCCT	NONE	.	.	hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Gene3D:1.10.460.10,Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712	.	.	ENSP00000321636	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000321105	Transcript	.	.	ENSG00000177302	11992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TOP3A_HUMAN	TOP3A	HGNC	B4DSJ0_HUMAN,A8K398_HUMAN	.	UPI00001371A0	SNV	TOP3A,missense_variant,p.Asp497His,ENST00000580095,;TOP3A,missense_variant,p.Asp52His,ENST00000540524,;TOP3A,missense_variant,p.Asp522His,ENST00000321105,;TOP3A,missense_variant,p.Asp427His,ENST00000542570,;TOP3A,missense_variant,p.Asp58His,ENST00000582122,;TOP3A,3_prime_UTR_variant,,ENST00000581536,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583804,;TOP3A,intron_variant,,ENST00000469739,;	1779	40	57	SUCCESS
KRT26	353288	.	GRCh37	17	38926350	38926350	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	77	0	ENST00000335552.4:c.706G>T	p.Ala236Ser	p.A236S	ENST00000335552	NM_181539.4	236	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11374.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCTGTAT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF162,Pfam_domain:PF00038	.	.	ENSP00000334798	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000335552	Transcript	.	.	ENSG00000186393	30840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.67)	.	K1C26_HUMAN	KRT26	HGNC	.	.	UPI0000200C8F	SNV	KRT26,missense_variant,p.Ala236Ser,ENST00000335552,;	755	77	68	SUCCESS
KPNB1	3837	.	GRCh37	17	45752005	45752005	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	48	0	ENST00000290158.4:c.1769A>G	p.Asn590Ser	p.N590S	ENST00000290158	NM_002265.5	590	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11513.1	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAATGTTC	NONE	.	.	hmmpanther:PTHR10527:SF1,hmmpanther:PTHR10527,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000290158	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000290158	Transcript	.	.	ENSG00000108424	6400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	IMB1_HUMAN	KPNB1	HGNC	J3QRG4_HUMAN,J3QR48_HUMAN,B7ZAV6_HUMAN	.	UPI0000001C21	SNV	KPNB1,missense_variant,p.Asn404Ser,ENST00000582097,;KPNB1,missense_variant,p.Asn445Ser,ENST00000535458,;KPNB1,missense_variant,p.Asn374Ser,ENST00000537679,;KPNB1,missense_variant,p.Asn445Ser,ENST00000540627,;KPNB1,missense_variant,p.Asn590Ser,ENST00000290158,;KPNB1,downstream_gene_variant,,ENST00000583013,;KPNB1,splice_region_variant,,ENST00000579901,;KPNB1,splice_region_variant,,ENST00000578718,;KPNB1,upstream_gene_variant,,ENST00000580573,;KPNB1,downstream_gene_variant,,ENST00000580019,;	2176	48	43	SUCCESS
COX11	1353	.	GRCh37	17	53040188	53040188	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	28	183	0	ENST00000299335.3:c.737A>C	p.Asp246Ala	p.D246A	ENST00000299335	NM_004375.3	246	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS11583.1	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGATCTTCA	NONE	.	.	Superfamily_domains:0043679,Gene3D:1so9A00,Pfam_domain:PF04442,hmmpanther:PTHR21320:SF0,hmmpanther:PTHR21320,HAMAP:MF_00155	.	.	ENSP00000299335	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299335	Transcript	.	.	ENSG00000166260	2261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COX11_HUMAN	COX11	HGNC	B4DEY8_HUMAN	.	UPI000013E580	SNV	COX11,missense_variant,p.Asp246Ala,ENST00000299335,;TOM1L1,downstream_gene_variant,,ENST00000574318,;COX11,downstream_gene_variant,,ENST00000571584,;TOM1L1,downstream_gene_variant,,ENST00000445275,;TOM1L1,downstream_gene_variant,,ENST00000540336,;TOM1L1,downstream_gene_variant,,ENST00000536554,;TOM1L1,downstream_gene_variant,,ENST00000572158,;TOM1L1,downstream_gene_variant,,ENST00000348161,;TOM1L1,downstream_gene_variant,,ENST00000575882,;COX11,upstream_gene_variant,,ENST00000573912,;COX11,upstream_gene_variant,,ENST00000574989,;COX11,missense_variant,p.Asp246Ala,ENST00000576370,;COX11,intron_variant,,ENST00000574821,;COX11,intron_variant,,ENST00000572558,;TOM1L1,downstream_gene_variant,,ENST00000574653,;TOM1L1,downstream_gene_variant,,ENST00000571319,;	876	183	181	SUCCESS
CLTC	1213	.	GRCh37	17	57758823	57758823	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759911857	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	91	1	ENST00000269122.3:c.3233A>G	p.Asn1078Ser	p.N1078S	ENST00000269122	NM_004859.3	1078	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32696.1	3233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAATACTT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	20/32	.	.	.	.	.	.	.	.	rs759911857	20/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Asn1078Ser,ENST00000269122,;CLTC,missense_variant,p.Asn1078Ser,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,upstream_gene_variant,,ENST00000475458,;CLTC,upstream_gene_variant,,ENST00000472651,;PTRH2,intron_variant,,ENST00000587935,;CLTC,downstream_gene_variant,,ENST00000579815,;CLTC,upstream_gene_variant,,ENST00000496076,;	3507	92	82	SUCCESS
KPNA2	3838	.	GRCh37	17	66040111	66040111	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	141	230	0	ENST00000330459.3:c.1088C>G	p.Thr363Arg	p.T363R	ENST00000330459	NM_002266.2	363	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS32713.1	1088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACAGCCG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316:SF12,hmmpanther:PTHR23316,PROSITE_profiles:PS50176	.	.	ENSP00000438483	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000537025	Transcript	.	.	ENSG00000182481	6395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IMA1_HUMAN	KPNA2	HGNC	J3QLL0_HUMAN,J3KS65_HUMAN	.	UPI000012D5F6	SNV	KPNA2,missense_variant,p.Thr363Arg,ENST00000537025,;KPNA2,missense_variant,p.Thr363Arg,ENST00000330459,;KPNA2,downstream_gene_variant,,ENST00000579754,;KPNA2,downstream_gene_variant,,ENST00000584026,;KPNA2,upstream_gene_variant,,ENST00000582898,;KPNA2,downstream_gene_variant,,ENST00000583392,;KPNA2,downstream_gene_variant,,ENST00000583269,;	1708	230	313	SUCCESS
TAF4B	6875	.	GRCh37	18	23872237	23872237	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	28	102	0	ENST00000269142.5:c.1618del	p.Glu540LysfsTer4	p.E540Kfs*4	ENST00000269142	NM_005640.1	540	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS42421.1	1618	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAATGAAAAA	NONE	.	.	hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11	.	.	ENSP00000269142	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000269142	Transcript	.	.	ENSG00000141384	11538	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TAF4B_HUMAN	TAF4B	HGNC	B4DYT3_HUMAN,A4PBF8_HUMAN	.	UPI00006C65F2	deletion	TAF4B,frameshift_variant,p.Glu545LysfsTer4,ENST00000578121,;TAF4B,frameshift_variant,p.Glu540LysfsTer4,ENST00000269142,;TAF4B,frameshift_variant,p.Glu540LysfsTer4,ENST00000400466,;TAF4B,frameshift_variant,p.Glu540LysfsTer4,ENST00000418698,;	2616	102	117	SUCCESS
PPAN	56342	.	GRCh37	19	10218695	10218695	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	20	76	0	ENST00000253107.7:c.398A>T	p.Gln133Leu	p.Q133L	ENST00000253107	NM_020230.5	133	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS42498.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCAGCAGT	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR12661,hmmpanther:PTHR12661:SF5,Pfam_domain:PF04427,SMART_domains:SM00879	.	.	ENSP00000450710	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000556468	Transcript	.	.	ENSG00000130810	9227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	SSF1_HUMAN	PPAN	HGNC	.	.	UPI000016A418	SNV	PPAN,missense_variant,p.Gln71Leu,ENST00000430370,;PPAN,missense_variant,p.Gln80Leu,ENST00000393793,;PPAN-P2RY11,missense_variant,p.Gln133Leu,ENST00000428358,;PPAN,missense_variant,p.Gln133Leu,ENST00000253107,;PPAN-P2RY11,missense_variant,p.Gln133Leu,ENST00000393796,;PPAN,missense_variant,p.Gln133Leu,ENST00000556468,;PPAN,missense_variant,p.Gln71Leu,ENST00000446223,;P2RY11,upstream_gene_variant,,ENST00000321826,;PPAN,upstream_gene_variant,,ENST00000444703,;SNORD105B,upstream_gene_variant,,ENST00000458770,;SNORD105,downstream_gene_variant,,ENST00000386910,;P2RY11,upstream_gene_variant,,ENST00000471843,;PPAN,non_coding_transcript_exon_variant,,ENST00000466025,;PPAN,upstream_gene_variant,,ENST00000486482,;PPAN,upstream_gene_variant,,ENST00000468881,;	425	76	98	SUCCESS
ZNF763	284390	.	GRCh37	19	12089392	12089392	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	35	121	0	ENST00000358987.3:c.653A>G	p.His218Arg	p.H218R	ENST00000358987		218	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45982.1	662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCATGAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF19,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000369774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343949	Transcript	.	.	ENSG00000197054	27614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.731)	.	deleterious(0.01)	.	ZN763_HUMAN	ZNF763	HGNC	K7EJF3_HUMAN,B4DRE7_HUMAN	.	UPI00001609E5	SNV	ZNF763,missense_variant,p.His238Arg,ENST00000538752,;ZNF763,missense_variant,p.His221Arg,ENST00000343949,;ZNF763,missense_variant,p.His96Arg,ENST00000545530,;ZNF763,missense_variant,p.His238Arg,ENST00000590798,;ZNF763,missense_variant,p.His218Arg,ENST00000358987,;ZNF763,downstream_gene_variant,,ENST00000586494,;ZNF763,downstream_gene_variant,,ENST00000481745,;ZNF763,downstream_gene_variant,,ENST00000591944,;ZNF763,downstream_gene_variant,,ENST00000592625,;ZNF763,downstream_gene_variant,,ENST00000591441,;ZNF763,downstream_gene_variant,,ENST00000586354,;	817	121	137	SUCCESS
ZNF563	147837	.	GRCh37	19	12430381	12430381	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764190825	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	20	99	0	ENST00000293725.5:c.458A>G	p.His153Arg	p.H153R	ENST00000293725	NM_145276.2	153	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12270.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGGTAA	NONE	byFrequency	.	hmmpanther:PTHR24379:SF14,hmmpanther:PTHR24379,Superfamily_domains:SSF57667	.	.	ENSP00000293725	.	4/4	.	.	.	.	.	.	.	.	rs764190825	4/4	PASS	ENST00000293725	Transcript	.	.	ENSG00000188868	30498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.36)	.	ZN563_HUMAN	ZNF563	HGNC	M0R1Q6_HUMAN	.	UPI0000072E62	SNV	ZNF563,missense_variant,p.His153Arg,ENST00000293725,;ZNF563,missense_variant,p.His121Arg,ENST00000601858,;ZNF563,missense_variant,p.His153Arg,ENST00000595977,;ZNF563,missense_variant,p.His65Arg,ENST00000594577,;	664	99	116	SUCCESS
MYO9B	4650	.	GRCh37	19	17320447	17320447	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	51	0	ENST00000594824.1:c.5677G>C	p.Glu1893Gln	p.E1893Q	ENST00000594824		1893	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS46010.1	5677	MUTECT|MUSE	.	AGATGGAGGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Gene3D:1.10.555.10	.	.	ENSP00000471457	.	36/40	.	.	.	.	.	.	.	.	.	36/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.185)	.	tolerated(0.51)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Glu1893Gln,ENST00000595641,;MYO9B,missense_variant,p.Glu1893Gln,ENST00000397274,;MYO9B,missense_variant,p.Glu1893Gln,ENST00000595618,;MYO9B,missense_variant,p.Glu1893Gln,ENST00000594824,;MYO9B,missense_variant,p.Glu95Gln,ENST00000596942,;MYO9B,missense_variant,p.Glu66Gln,ENST00000597073,;MYO9B,missense_variant,p.Glu29Gln,ENST00000598419,;CTD-3032J10.3,upstream_gene_variant,,ENST00000601929,;MYO9B,downstream_gene_variant,,ENST00000593533,;MYO9B,downstream_gene_variant,,ENST00000602158,;MYO9B,upstream_gene_variant,,ENST00000597881,;MYO9B,downstream_gene_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000597572,;	5829	51	62	SUCCESS
ATP13A1	57130	.	GRCh37	19	19767906	19767906	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	44	0	ENST00000357324.6:c.803T>G	p.Phe268Cys	p.F268C	ENST00000357324	NM_020410.2	268	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS32970.2	803	MUTECT|MUSE	.	GCGTAAAGACG	NONE	.	.	Superfamily_domains:0049473,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82	.	.	ENSP00000349877	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Phe150Cys,ENST00000291503,;ATP13A1,missense_variant,p.Phe268Cys,ENST00000357324,;ATP13A1,downstream_gene_variant,,ENST00000455627,;ATP13A1,downstream_gene_variant,,ENST00000487364,;ATP13A1,upstream_gene_variant,,ENST00000496082,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000474955,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000492774,;ATP13A1,upstream_gene_variant,,ENST00000469641,;ATP13A1,upstream_gene_variant,,ENST00000497556,;ATP13A1,upstream_gene_variant,,ENST00000497762,;ATP13A1,upstream_gene_variant,,ENST00000473243,;ATP13A1,upstream_gene_variant,,ENST00000491221,;ATP13A1,upstream_gene_variant,,ENST00000497156,;ATP13A1,upstream_gene_variant,,ENST00000471063,;	830	44	52	SUCCESS
ZNF253	56242	.	GRCh37	19	19990922	19990922	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1328006717	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	32	0	ENST00000589717.1:c.193A>G	p.Met65Val	p.M65V	ENST00000589717	NM_021047.2	65	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS42532.1	193	RADIA|MUTECT|MUSE|VARSCANS	.	TAACTATGGAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106	.	.	ENSP00000468720	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.51)	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,start_lost,p.Met1?,ENST00000592725,;ZNF253,missense_variant,p.Met65Val,ENST00000589717,;ZNF253,intron_variant,,ENST00000355650,;ZNF253,downstream_gene_variant,,ENST00000589668,;	285	32	39	SUCCESS
ZNF85	7639	.	GRCh37	19	21132307	21132307	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	96	0	ENST00000328178.8:c.987T>C	p.Leu329=	p.L329=	ENST00000328178	NM_003429.4	329	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS32977.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTTACTAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000329793	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328178	Transcript	.	.	ENSG00000105750	13160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF85_HUMAN	ZNF85	HGNC	M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN	.	UPI0000203897	SNV	ZNF85,synonymous_variant,p.%3D,ENST00000601023,;ZNF85,synonymous_variant,p.%3D,ENST00000328178,;ZNF85,synonymous_variant,p.%3D,ENST00000345030,;ZNF85,synonymous_variant,p.%3D,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000601284,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000595742,;	1100	96	81	SUCCESS
TGFB1	7040	.	GRCh37	19	41850715	41850715	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201383660	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	82	0	ENST00000221930.5:c.571G>A	p.Asp191Asn	p.D191N	ENST00000221930	NM_000660.4	191	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33031.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTCGCTGG	NONE	.	.	hmmpanther:PTHR11848:SF125,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423	.	.	ENSP00000221930	.	3/7	.	.	.	.	.	.	.	.	rs201383660	3/7	PASS	ENST00000221930	Transcript	1	.	ENSG00000105329	11766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.12)	.	TGFB1_HUMAN	TGFB1	HGNC	Q7Z488_HUMAN,Q7Z487_HUMAN,Q5PY19_HUMAN	.	UPI000013C7E1	SNV	TGFB1,missense_variant,p.Asp191Asn,ENST00000221930,;TGFB1,upstream_gene_variant,,ENST00000598758,;TGFB1,non_coding_transcript_exon_variant,,ENST00000597453,;TGFB1,non_coding_transcript_exon_variant,,ENST00000600196,;	1438	82	80	SUCCESS
CEACAM4	1089	.	GRCh37	19	42128109	42128109	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368076616	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	63	199	0	ENST00000221954.2:c.457G>A	p.Val153Ile	p.V153I	ENST00000221954	NM_001817.2	153	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS33033.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGACGGCCC	BUFFER|p.A154T|c.460G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111	.	T:0.0001	ENSP00000221954	.	3/7	.	.	.	.	.	.	.	.	rs368076616,COSM997061	3/7	PASS	ENST00000221954	Transcript	.	.	ENSG00000105352	1816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(1)	0,1	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	SNV	CEACAM4,missense_variant,p.Val153Ile,ENST00000221954,;CEACAM4,missense_variant,p.Val153Ile,ENST00000600925,;CEACAM4,downstream_gene_variant,,ENST00000472081,;	568	199	157	SUCCESS
PVR	5817	.	GRCh37	19	45153150	45153160	+	frameshift_variant	Frame_Shift_Del	DEL	GCGTCTCCACA	GCGTCTCCACA	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	GCGTCTCCACA	GCGTCTCCACA	.	.	.	.	.	.	.	.	.	.	.	.	.	61	7	51	0	ENST00000425690.3:c.498_508del	p.Cys166TrpfsTer60	p.C166Wfs*60	ENST00000425690	NM_006505.3	166	tGCGTCTCCACA/t	0	.	.	.	.	.	-	CVST/X	protein_coding	YES	CCDS12640.1	497-507	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGCTGCGTCTCCACAGGGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF54,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000402060	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000425690	Transcript	.	.	ENSG00000073008	9705	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PVR_HUMAN	PVR	HGNC	.	.	UPI000004A2C1	deletion	PVR,frameshift_variant,p.Cys166TrpfsTer60,ENST00000406449,;PVR,frameshift_variant,p.Cys166TrpfsTer60,ENST00000425690,;PVR,frameshift_variant,p.Cys166TrpfsTer60,ENST00000344956,;PVR,frameshift_variant,p.Cys166TrpfsTer60,ENST00000403059,;PVR,upstream_gene_variant,,ENST00000587785,;CTB-171A8.1,intron_variant,,ENST00000590796,;PVR,3_prime_UTR_variant,,ENST00000187830,;	796-806	51	68	SUCCESS
SYMPK	8189	.	GRCh37	19	46326692	46326692	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	66	0	ENST00000245934.7:c.2638C>G	p.Leu880Val	p.L880V	ENST00000245934	NM_004819.2	880	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS12676.2	2638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGAGATCCC	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	.	.	ENSP00000245934	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.763)	.	deleterious(0)	.	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,missense_variant,p.Leu880Val,ENST00000245934,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599460,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599814,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598329,;	2883	66	47	SUCCESS
CCDC9	26093	.	GRCh37	19	47770041	47770041	+	synonymous_variant	Silent	SNP	C	C	T	rs143618657	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	54	117	0	ENST00000221922.6:c.894C>T	p.Thr298=	p.T298=	ENST00000221922	NM_015603.2	298	acC/acT	0	T:0.0007	T:0.0015	.	T:0	.	T	T	protein_coding	YES	CCDS12698.1	894	RADIA|MUSE	.	AAGACCGATGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15635:SF11,hmmpanther:PTHR15635,Pfam_domain:PF15266	T:0	T:0	ENSP00000221922	T:0	8/12	.	.	.	.	.	.	.	.	rs143618657	8/12	PASS	ENST00000221922	Transcript	.	T:0.0004	ENSG00000105321	24560	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CCDC9_HUMAN	CCDC9	HGNC	M0R2W0_HUMAN,M0QZR0_HUMAN,M0QYB4_HUMAN	.	UPI0000073E41	SNV	CCDC9,synonymous_variant,p.%3D,ENST00000221922,;CCDC9,non_coding_transcript_exon_variant,,ENST00000600117,;	1116	117	143	SUCCESS
ZNF534	147658	.	GRCh37	19	52934712	52934712	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	114	0	ENST00000332323.6:c.-16A>G		p.*6*	ENST00000332323	NM_001143939.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46165.1	.	RADIA|MUTECT|MUSE	.	AGGAAAGAAAG	NONE	.	.	.	.	.	ENSP00000327538	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000332323	Transcript	.	.	ENSG00000198633	26337	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN534_HUMAN	ZNF534	HGNC	.	.	UPI0000351984	SNV	ZNF534,5_prime_UTR_variant,,ENST00000332323,;ZNF534,5_prime_UTR_variant,,ENST00000433050,;ZNF534,5_prime_UTR_variant,,ENST00000301085,;ZNF534,5_prime_UTR_variant,,ENST00000432303,;	46	114	68	SUCCESS
ZNF837	116412	.	GRCh37	19	58879429	58879429	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	29	0	ENST00000427624.2:c.1271G>T	p.Cys424Phe	p.C424F	ENST00000427624		424	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS46216.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCGCACAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF210,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000405699	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000427624	Transcript	.	.	ENSG00000152475	25164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZN837_HUMAN	ZNF837	HGNC	.	.	UPI00001C2012	SNV	ZNF837,missense_variant,p.Cys424Phe,ENST00000427624,;ZNF837,missense_variant,p.Cys424Phe,ENST00000597582,;RNA5SP473,downstream_gene_variant,,ENST00000516402,;CTD-2619J13.3,downstream_gene_variant,,ENST00000599889,;	1594	29	33	SUCCESS
ZNF132	7691	.	GRCh37	19	58945338	58945338	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	106	0	ENST00000254166.3:c.1473T>G	p.Asp491Glu	p.D491E	ENST00000254166	NM_003433.3	491	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS12980.1	1473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAATCACA	BUFFER|p.K494E|c.1480A>G|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF219,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000254166	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254166	Transcript	.	.	ENSG00000131849	12916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZN132_HUMAN	ZNF132	HGNC	.	.	UPI0000366EAB	SNV	ZNF132,missense_variant,p.Asp491Glu,ENST00000254166,;CTD-2619J13.17,upstream_gene_variant,,ENST00000594816,;ZNF132,non_coding_transcript_exon_variant,,ENST00000599148,;	1874	106	82	SUCCESS
C3	718	.	GRCh37	19	6713480	6713480	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	9	73	0	ENST00000245907.6:c.814A>G	p.Ile272Val	p.I272V	ENST00000245907	NM_000064.2	272	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32883.1	814	MUTECT|MUSE|VARSCANS	.	GAAGATGACAA	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	.	.	ENSP00000245907	.	8/41	.	.	.	.	.	.	.	.	.	8/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.019)	.	tolerated(0.25)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Ile272Val,ENST00000245907,;C3,downstream_gene_variant,,ENST00000600744,;C3,non_coding_transcript_exon_variant,,ENST00000597442,;C3,upstream_gene_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000594936,;	907	73	81	SUCCESS
PALMD	54873	.	GRCh37	1	100155039	100155039	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	121	0	ENST00000263174.4:c.1223A>G	p.Asn408Ser	p.N408S	ENST00000263174	NM_017734.4	408	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS758.1	1223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAATGATA	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5	.	.	ENSP00000263174	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.09)	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,missense_variant,p.Asn408Ser,ENST00000605497,;PALMD,missense_variant,p.Asn408Ser,ENST00000263174,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;	1598	121	73	SUCCESS
UBE4B	10277	.	GRCh37	1	10190648	10190648	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	95	0	ENST00000343090.6:c.1786A>T	p.Ser596Cys	p.S596C	ENST00000343090	NM_001105562.2	596	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS41245.1	1786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTAGCTTC	NONE	.	.	hmmpanther:PTHR13931:SF13,hmmpanther:PTHR13931,Pfam_domain:PF10408	.	.	ENSP00000343001	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000343090	Transcript	.	.	ENSG00000130939	12500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	UBE4B_HUMAN	UBE4B	HGNC	.	.	UPI0000137944	SNV	UBE4B,missense_variant,p.Ser351Cys,ENST00000377157,;UBE4B,missense_variant,p.Ser467Cys,ENST00000253251,;UBE4B,missense_variant,p.Ser596Cys,ENST00000343090,;UBE4B,intron_variant,,ENST00000470736,;UBE4B,non_coding_transcript_exon_variant,,ENST00000475795,;UBE4B,non_coding_transcript_exon_variant,,ENST00000466379,;	1861	95	71	SUCCESS
COL11A1	1301	.	GRCh37	1	103385871	103385871	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	65	0	ENST00000370096.3:c.3758A>T	p.Glu1253Val	p.E1253V	ENST00000370096	NM_001854.3	1253	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS778.1	3758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	49/67	.	.	.	.	.	.	.	.	.	49/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Glu1137Val,ENST00000512756,;COL11A1,missense_variant,p.Glu1214Val,ENST00000353414,;COL11A1,missense_variant,p.Glu1253Val,ENST00000370096,;COL11A1,missense_variant,p.Glu1265Val,ENST00000358392,;	4071	65	51	SUCCESS
GSTM5	2949	.	GRCh37	1	110256136	110256136	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs146232109	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	6	168	0	ENST00000256593.3:c.208A>C	p.Ile70Leu	p.I70L	ENST00000256593	NM_000851.3	70	Atc/Ctc	0	G:0.0002	G:0.0015	.	G:0	.	C	I/L	protein_coding	YES	CCDS811.1	208	MUTECT|MUSE	.	ACAAGATCACC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50404,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF103,Pfam_domain:PF02798,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	G:0	G:0	ENSP00000256593	G:0	4/8	.	.	.	.	.	.	.	.	rs146232109	4/8	PASS	ENST00000256593	Transcript	.	G:0.0004	ENSG00000134201	4637	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.128)	G:0	tolerated(0.71)	.	GSTM5_HUMAN	GSTM5	HGNC	Q5T8R2_HUMAN	.	UPI000013CF16	SNV	GSTM5,missense_variant,p.Ile89Leu,ENST00000369812,;GSTM5,missense_variant,p.Ile70Leu,ENST00000256593,;GSTM5,missense_variant,p.Ile29Leu,ENST00000369813,;GSTM1,downstream_gene_variant,,ENST00000483399,;GSTM2,downstream_gene_variant,,ENST00000369831,;GSTM5,intron_variant,,ENST00000429410,;GSTM5,upstream_gene_variant,,ENST00000483153,;GSTM5,upstream_gene_variant,,ENST00000492718,;GSTM1,downstream_gene_variant,,ENST00000490021,;	266	168	163	SUCCESS
NRAS	4893	.	GRCh37	1	115256457	115256457	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs114636410	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	94	0	ENST00000369535.4:c.254A>G	p.Asn85Ser	p.N85S	ENST00000369535	NM_002524.4	85	aAt/aGt	0	.	C:0	.	C:0	.	C	N/S	protein_coding	YES	CCDS877.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTATTGATG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF189,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540	C:0.001	.	ENSP00000358548	C:0	3/7	.	.	.	.	.	.	.	.	rs114636410	3/7	PASS	ENST00000369535	Transcript	.	C:0.0002	ENSG00000213281	7989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	C:0	tolerated(0.08)	.	RASN_HUMAN	NRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,Q5U091_HUMAN,P78460_HUMAN	.	UPI0000001254	SNV	NRAS,missense_variant,p.Asn85Ser,ENST00000369535,;CSDE1,downstream_gene_variant,,ENST00000369530,;CSDE1,downstream_gene_variant,,ENST00000261443,;CSDE1,downstream_gene_variant,,ENST00000358528,;CSDE1,downstream_gene_variant,,ENST00000339438,;CSDE1,downstream_gene_variant,,ENST00000530886,;CSDE1,downstream_gene_variant,,ENST00000534699,;CSDE1,downstream_gene_variant,,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000483407,;	508	94	60	SUCCESS
FAM132A	0	.	GRCh37	1	1179473	1179473	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754889120	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	85	0	ENST00000330388.2:c.392G>A	p.Arg131His	p.R131H	ENST00000330388	NM_001014980.2	131	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS30554.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGGCGCTCC	NONE	byFrequency	.	hmmpanther:PTHR24019:SF9,hmmpanther:PTHR24019	.	.	ENSP00000329137	.	4/8	.	.	.	.	.	.	.	.	rs754889120	4/8	PASS	ENST00000330388	Transcript	.	.	ENSG00000184163	32308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.34)	.	F132A_HUMAN	FAM132A	HGNC	.	.	UPI00001D7E7A	SNV	FAM132A,missense_variant,p.Arg131His,ENST00000330388,;FAM132A,non_coding_transcript_exon_variant,,ENST00000468365,;FAM132A,non_coding_transcript_exon_variant,,ENST00000486627,;FAM132A,upstream_gene_variant,,ENST00000462849,;FAM132A,upstream_gene_variant,,ENST00000478606,;	424	86	87	SUCCESS
TXNIP	10628	.	GRCh37	1	145439791	145439791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	28	120	0	ENST00000369317.4:c.337T>A	p.Ser113Thr	p.S113T	ENST00000369317	NM_006472.4	113	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS913.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATCCTTC	NONE	.	.	hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF14,Pfam_domain:PF00339,Superfamily_domains:SSF81296	.	.	ENSP00000358323	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000369317	Transcript	.	.	ENSG00000117289	16952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.12)	.	TXNIP_HUMAN	TXNIP	HGNC	B4DVM7_HUMAN	.	UPI0000072AFB	SNV	TXNIP,missense_variant,p.Ser58Thr,ENST00000425134,;TXNIP,missense_variant,p.Ser113Thr,ENST00000369317,;TXNIP,intron_variant,,ENST00000475171,;TXNIP,upstream_gene_variant,,ENST00000486597,;TXNIP,upstream_gene_variant,,ENST00000488537,;	671	120	125	SUCCESS
GABPB2	126626	.	GRCh37	1	151065781	151065781	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs751595714	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	82	0	ENST00000368918.3:c.391del	p.His131MetfsTer13	p.H131Mfs*13	ENST00000368918	NM_144618.2	130	gtC/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS983.1	390	VARSCANI*|PINDEL	.	TGATGTCCATGC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24193,hmmpanther:PTHR24193:SF72,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000357914	.	4/9	.	.	.	.	.	.	.	.	rs751595714,COSM895692	4/9	PASS	ENST00000368918	Transcript	.	.	ENSG00000143458	28441	1	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	GABP2_HUMAN	GABPB2	HGNC	.	.	UPI000004C094	deletion	GABPB2,frameshift_variant,p.His131MetfsTer13,ENST00000368916,;GABPB2,frameshift_variant,p.His131MetfsTer13,ENST00000368917,;GABPB2,frameshift_variant,p.His131MetfsTer13,ENST00000368918,;GABPB2,non_coding_transcript_exon_variant,,ENST00000467551,;GABPB2,non_coding_transcript_exon_variant,,ENST00000486076,;GABPB2,non_coding_transcript_exon_variant,,ENST00000462520,;GABPB2,non_coding_transcript_exon_variant,,ENST00000489549,;	721	82	65	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155948221	155948221	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	22	105	0	ENST00000361247.4:c.-3A>C		p.*1*	ENST00000361247	NM_001162384.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53376.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATAATCGGAC	NONE	.	.	.	.	.	ENSP00000354837	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	SNV	ARHGEF2,5_prime_UTR_variant,,ENST00000361247,;ARHGEF2,intron_variant,,ENST00000471589,;ARHGEF2,intron_variant,,ENST00000368316,;ARHGEF2,intron_variant,,ENST00000462460,;ARHGEF2,intron_variant,,ENST00000495070,;ARHGEF2,upstream_gene_variant,,ENST00000313695,;ARHGEF2,upstream_gene_variant,,ENST00000497907,;ARHGEF2,upstream_gene_variant,,ENST00000313667,;RP11-336K24.12,upstream_gene_variant,,ENST00000610146,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000476273,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,intron_variant,,ENST00000465079,;	98	105	169	SUCCESS
NEK2	4751	.	GRCh37	1	211843634	211843634	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	73	0	ENST00000366999.4:c.754T>C	p.Leu252=	p.L252=	ENST00000366999	NM_002497.3	252	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1500.1	754	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAACATCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000355966	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000366999	Transcript	.	.	ENSG00000117650	7745	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEK2_HUMAN	NEK2	HGNC	B4DZU0_HUMAN	.	UPI000012FF27	SNV	NEK2,synonymous_variant,p.%3D,ENST00000366999,;NEK2,synonymous_variant,p.%3D,ENST00000366998,;NEK2,synonymous_variant,p.%3D,ENST00000540251,;NEK2,non_coding_transcript_exon_variant,,ENST00000462283,;NEK2,upstream_gene_variant,,ENST00000489633,;	893	73	68	SUCCESS
LEFTY2	7044	.	GRCh37	1	226128898	226128898	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	18	30	0	ENST00000366820.5:c.-58C>A		p.*20*	ENST00000366820	NM_003240.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGAGGGT	NONE	.	.	.	.	.	ENSP00000355785	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000366820	Transcript	.	.	ENSG00000143768	3122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LFTY2_HUMAN	LEFTY2	HGNC	.	.	UPI0000136CBB	SNV	LEFTY2,5_prime_UTR_variant,,ENST00000366820,;LEFTY2,5_prime_UTR_variant,,ENST00000420304,;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,upstream_gene_variant,,ENST00000474493,;	292	30	27	SUCCESS
SDE2	163859	.	GRCh37	1	226180658	226180658	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773269013	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	117	0	ENST00000272091.7:c.284C>T	p.Thr95Ile	p.T95I	ENST00000272091	NM_152608.3	95	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41473.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGTCTTC	NONE	.	.	hmmpanther:PTHR12786:SF1,hmmpanther:PTHR12786,Pfam_domain:PF13019	.	.	ENSP00000272091	.	3/7	.	.	.	.	.	.	.	.	rs773269013	3/7	PASS	ENST00000272091	Transcript	.	.	ENSG00000143751	26643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SDE2_HUMAN	SDE2	HGNC	.	.	UPI0000204007	SNV	SDE2,missense_variant,p.Thr95Ile,ENST00000272091,;	303	117	97	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227222414	227222414	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763915894	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	5	65	0	ENST00000334218.5:c.3313A>G	p.Ile1105Val	p.I1105V	ENST00000334218		1105	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1558.1	3313	MUTECT|MUSE	.	AGCAATATCGT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000355731	.	25/36	.	.	.	.	.	.	.	.	rs763915894	25/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.67)	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,missense_variant,p.Ile330Val,ENST00000441725,;CDC42BPA,missense_variant,p.Ile1024Val,ENST00000366767,;CDC42BPA,missense_variant,p.Ile3Val,ENST00000429440,;CDC42BPA,missense_variant,p.Ile434Val,ENST00000442054,;CDC42BPA,missense_variant,p.Ile1105Val,ENST00000366769,;CDC42BPA,missense_variant,p.Ile1118Val,ENST00000366765,;CDC42BPA,missense_variant,p.Ile308Val,ENST00000448940,;CDC42BPA,missense_variant,p.Ile1105Val,ENST00000334218,;CDC42BPA,missense_variant,p.Ile1077Val,ENST00000366764,;CDC42BPA,missense_variant,p.Ile1140Val,ENST00000366766,;CDC42BPA,missense_variant,p.Ile1085Val,ENST00000535525,;	4605	65	71	SUCCESS
B3GALNT2	148789	.	GRCh37	1	235617616	235617628	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	TTCAGTCTGAAAC	TTCAGTCTGAAAC	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	TTCAGTCTGAAAC	TTCAGTCTGAAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	146	19	193	0	ENST00000366600.3:c.1152-1_1163del		p.X384_splice	ENST00000366600	NM_152490.3	384		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1606.1	?-1163	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCAATTCAGTCTGAAACTGAGA	NONE	.	.	.	.	.	ENSP00000355559	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000366600	Transcript	.	.	ENSG00000162885	28596	.	.	HIGH	9/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3GL2_HUMAN	B3GALNT2	HGNC	.	.	UPI0000071B30	deletion	B3GALNT2,splice_acceptor_variant,,ENST00000366600,;B3GALNT2,splice_acceptor_variant,,ENST00000477694,;B3GALNT2,splice_acceptor_variant,,ENST00000462374,;	?-1392	193	165	SUCCESS
LYST	1130	.	GRCh37	1	235922871	235922871	+	synonymous_variant	Silent	SNP	T	T	C	rs749243447	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	67	0	ENST00000389793.2:c.6282A>G	p.Gln2094=	p.Q2094=	ENST00000389793	NM_000081.3	2094	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS31062.1	6282	MUTECT|MUSE|VARSCANS	.	ATCTGTTGTGG	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	23/53	.	.	.	.	.	.	.	.	rs749243447	23/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,synonymous_variant,p.%3D,ENST00000389793,;LYST,synonymous_variant,p.%3D,ENST00000389794,;LYST,3_prime_UTR_variant,,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;	6457	67	37	SUCCESS
ERO1LB	0	.	GRCh37	1	236415384	236415384	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	47	418	0	ENST00000354619.5:c.314T>G	p.Ile105Ser	p.I105S	ENST00000354619	NM_019891.3	105	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS31064.1	314	RADIA|MUTECT|MUSE	.	CCGGAATTTTA	NONE	.	.	Superfamily_domains:0043331,PIRSF_domain:PIRSF017205,Pfam_domain:PF04137,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF2	.	.	ENSP00000346635	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000354619	Transcript	.	.	ENSG00000086619	14355	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.297)	.	deleterious(0)	.	ERO1B_HUMAN	ERO1LB	HGNC	Q5TAE8_HUMAN,Q5T1H5_HUMAN	.	UPI00004700B5	SNV	ERO1LB,missense_variant,p.Ile105Ser,ENST00000327333,;ERO1LB,missense_variant,p.Ile105Ser,ENST00000354619,;ERO1LB,5_prime_UTR_variant,,ENST00000366589,;	516	418	272	SUCCESS
OR2B11	127623	.	GRCh37	1	247615038	247615038	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	57	0	ENST00000318749.6:c.247C>G	p.Pro83Ala	p.P83A	ENST00000318749	NM_001004492.1	83	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS31090.1	247	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGACTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,missense_variant,p.Pro83Ala,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	271	57	48	SUCCESS
TMEM57	0	.	GRCh37	1	25775415	25775415	+	synonymous_variant	Silent	SNP	A	A	G	rs569961532	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	34	0	ENST00000374343.4:c.339A>G	p.Val113=	p.V113=	ENST00000374343	NM_018202.4	113	gtA/gtG	0	.	G:0	.	G:0	.	G	V	protein_coding	YES	CCDS30638.1	339	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TACGTATGGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13289:SF4,hmmpanther:PTHR13289,Pfam_domain:PF09726	G:0.002	.	ENSP00000363463	G:0	3/11	.	.	.	.	.	.	.	.	rs569961532	3/11	PASS	ENST00000374343	Transcript	.	G:0.0004	ENSG00000204178	25572	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	MACOI_HUMAN	TMEM57	HGNC	Q9H5V1_HUMAN	.	UPI000004A074	SNV	TMEM57,synonymous_variant,p.%3D,ENST00000399766,;TMEM57,synonymous_variant,p.%3D,ENST00000374343,;TMEM57,intron_variant,,ENST00000399763,;TMEM57,non_coding_transcript_exon_variant,,ENST00000470035,;	518	35	24	SUCCESS
SRSF4	6429	.	GRCh37	1	29475685	29475685	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368357249	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	32	0	ENST00000373795.4:c.722G>A	p.Arg241Gln	p.R241Q	ENST00000373795	NM_005626.4	241	cGg/cAg	0	T:0.0005	.	.	.	.	T	R/Q	protein_coding	YES	CCDS333.1	722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGGCTC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF11	.	T:0	ENSP00000362900	.	6/6	.	.	.	.	.	.	.	.	rs368357249,COSM1341649	6/6	PASS	ENST00000373795	Transcript	.	.	ENSG00000116350	10786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.238)	.	tolerated(0.08)	0,1	SRSF4_HUMAN	SRSF4	HGNC	.	.	UPI00001358BF	SNV	SRSF4,missense_variant,p.Arg241Gln,ENST00000373795,;SRSF4,synonymous_variant,p.%3D,ENST00000546138,;RP11-242O24.3,upstream_gene_variant,,ENST00000413004,;RP11-242O24.5,upstream_gene_variant,,ENST00000450108,;SRSF4,non_coding_transcript_exon_variant,,ENST00000466448,;	957	32	18	SUCCESS
TXLNA	200081	.	GRCh37	1	32660748	32660748	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	34	196	0	ENST00000373609.1:c.1593A>C	p.Glu531Asp	p.E531D	ENST00000373609		531	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS353.1	1593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAAGCATC	NONE	.	.	hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF12	.	.	ENSP00000362711	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000373609	Transcript	.	.	ENSG00000084652	30685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.22)	.	TXLNA_HUMAN	TXLNA	HGNC	.	.	UPI000000D7D9	SNV	TXLNA,missense_variant,p.Glu531Asp,ENST00000373609,;TXLNA,missense_variant,p.Glu531Asp,ENST00000373610,;	1874	196	171	SUCCESS
ERMAP	114625	.	GRCh37	1	43300793	43300793	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	119	0	ENST00000372514.3:c.518T>G	p.Leu173Arg	p.L173R	ENST00000372514	NM_018538.3	173	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS475.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTTTGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF46	.	.	ENSP00000361595	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000372517	Transcript	.	.	ENSG00000164010	15743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.372)	.	tolerated(0.55)	.	ERMAP_HUMAN	ERMAP	HGNC	G4XL73_HUMAN	.	UPI000007000D	SNV	ERMAP,missense_variant,p.Leu83Arg,ENST00000328249,;ERMAP,missense_variant,p.Leu173Arg,ENST00000372517,;ERMAP,missense_variant,p.Leu173Arg,ENST00000372514,;RP11-342M1.3,non_coding_transcript_exon_variant,,ENST00000414798,;RP11-342M1.3,downstream_gene_variant,,ENST00000416809,;ERMAP,non_coding_transcript_exon_variant,,ENST00000487556,;	762	119	75	SUCCESS
OSBPL9	114883	.	GRCh37	1	52250182	52250182	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs528947130	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	47	0	ENST00000428468.1:c.1757A>G	p.Tyr586Cys	p.Y586C	ENST00000428468		586	tAt/tGt	0	.	G:0	.	G:0	.	G	Y/C	protein_coding	YES	CCDS44145.1	1787	MUTECT|MUSE	.	AGGCTATAGTG	NONE	by1000G	.	hmmpanther:PTHR10972:SF27,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579	G:0	.	ENSP00000412733	G:0	20/24	.	.	.	.	.	.	.	.	rs528947130	20/24	PASS	ENST00000447887	Transcript	.	G:0.0002	ENSG00000117859	16386	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	G:0.001	deleterious(0)	.	OSBL9_HUMAN	OSBPL9	HGNC	Q9BRN2_HUMAN,E9PNR1_HUMAN,B3KW33_HUMAN	.	UPI0000167BAD	SNV	OSBPL9,missense_variant,p.Tyr586Cys,ENST00000428468,;OSBPL9,missense_variant,p.Tyr604Cys,ENST00000371710,;OSBPL9,missense_variant,p.Tyr596Cys,ENST00000447887,;OSBPL9,missense_variant,p.Tyr408Cys,ENST00000486942,;OSBPL9,missense_variant,p.Tyr591Cys,ENST00000337809,;OSBPL9,missense_variant,p.Tyr421Cys,ENST00000435686,;OSBPL9,missense_variant,p.Tyr573Cys,ENST00000371714,;OSBPL9,missense_variant,p.Tyr476Cys,ENST00000361556,;OSBPL9,missense_variant,p.Tyr505Cys,ENST00000530544,;OSBPL9,missense_variant,p.Tyr421Cys,ENST00000531828,;OSBPL9,missense_variant,p.Tyr569Cys,ENST00000453295,;OSBPL9,missense_variant,p.Tyr408Cys,ENST00000462759,;NRD1,downstream_gene_variant,,ENST00000440943,;NRD1,downstream_gene_variant,,ENST00000354831,;NRD1,downstream_gene_variant,,ENST00000352171,;NRD1,downstream_gene_variant,,ENST00000539524,;NRD1,downstream_gene_variant,,ENST00000485608,;NRD1,downstream_gene_variant,,ENST00000464385,;OSBPL9,downstream_gene_variant,,ENST00000533825,;OSBPL9,3_prime_UTR_variant,,ENST00000495776,;OSBPL9,3_prime_UTR_variant,,ENST00000435274,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000531819,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000475697,;	1806	47	49	SUCCESS
SLC1A7	6512	.	GRCh37	1	53580429	53580429	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs1212141950	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	33	71	0	ENST00000371494.4:c.431+1G>T		p.X144_splice	ENST00000371494	NM_006671.4	144		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS574.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTACCGGAT	NONE	.	.	.	.	.	ENSP00000360549	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371494	Transcript	.	.	ENSG00000162383	10945	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAA5_HUMAN	SLC1A7	HGNC	F1T0D2_HUMAN	.	UPI000013DED8	SNV	SLC1A7,splice_donor_variant,,ENST00000371491,;SLC1A7,splice_donor_variant,,ENST00000371494,;RP11-334A14.8,non_coding_transcript_exon_variant,,ENST00000439621,;	.	71	55	SUCCESS
SPSB1	80176	.	GRCh37	1	9416228	9416228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	88	0	ENST00000328089.6:c.278A>G	p.Tyr93Cys	p.Y93C	ENST00000328089	NM_025106.3	93	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS102.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTATACCC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF8,Superfamily_domains:SSF49899	.	.	ENSP00000330221	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000328089	Transcript	.	.	ENSG00000171621	30628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	SPSB1_HUMAN	SPSB1	HGNC	A2A276_HUMAN	.	UPI000006D00B	SNV	SPSB1,missense_variant,p.Tyr93Cys,ENST00000450402,;SPSB1,missense_variant,p.Tyr93Cys,ENST00000328089,;SPSB1,missense_variant,p.Tyr93Cys,ENST00000377399,;SPSB1,missense_variant,p.Tyr93Cys,ENST00000357898,;	619	88	76	SUCCESS
PLK1S1	0	.	GRCh37	20	21142657	21142657	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	18	158	0	ENST00000457464.1:n.215A>G		p.*72*	ENST00000457464				0	.	.	.	.	.	G	.	antisense	YES	.	.	MUTECT|MUSE|VARSCANS	.	CACAAAGAACT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000591761	Transcript	.	.	ENSG00000232712	.	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP4-777D9.2	Clone_based_vega_gene	.	.	.	SNV	RP4-777D9.2,intron_variant,,ENST00000591761,;RP5-872K7.7,intron_variant,,ENST00000425746,;RP5-872K7.7,upstream_gene_variant,,ENST00000434043,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000458446,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000445992,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000457464,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000424111,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000427692,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000432487,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000447448,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000246027,;PLK1S1,upstream_gene_variant,,ENST00000428699,;RPS15AP1,downstream_gene_variant,,ENST00000457423,;	.	158	176	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3675089	3675089	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766676495	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	63	0	ENST00000344754.4:c.3035C>T	p.Pro1012Leu	p.P1012L	ENST00000344754	NM_023068.3	1012	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13060.1	3035	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGAGGG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	12/21	.	.	.	.	.	.	.	.	rs766676495	12/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.07)	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.Pro1012Leu,ENST00000344754,;SIGLEC1,missense_variant,p.Pro1012Leu,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	3035	63	121	SUCCESS
TSHZ2	128553	.	GRCh37	20	51871290	51871292	+	inframe_deletion	In_Frame_Del	DEL	GTT	GTT	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	GTT	GTT	.	.	.	.	.	.	.	.	.	.	.	.	.	136	14	127	0	ENST00000371497.5:c.1295_1297del	p.Leu432del	p.L432del	ENST00000371497	NM_173485.5	431	tcGTTg/tcg	0	.	.	.	.	.	-	SL/S	protein_coding	YES	CCDS33490.1	1293-1295	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGTCGTTGTCTG	NONE	.	.	hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	.	.	ENSP00000360552	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000371497	Transcript	.	.	ENSG00000182463	13010	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSH2_HUMAN	TSHZ2	HGNC	S4R3C8_HUMAN	.	UPI0000206747	deletion	TSHZ2,inframe_deletion,p.Leu429del,ENST00000603338,;TSHZ2,inframe_deletion,p.Leu432del,ENST00000371497,;TSHZ2,inframe_deletion,p.Leu429del,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	2180-2182	127	150	SUCCESS
PCK1	5105	.	GRCh37	20	56138214	56138214	+	synonymous_variant	Silent	SNP	T	T	G	rs751848638	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	35	54	0	ENST00000319441.4:c.741T>G	p.Ala247=	p.A247=	ENST00000319441	NM_002591.3	247	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS13460.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTCTCAG	NONE	byFrequency	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.40.449.10,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF68923	.	.	ENSP00000319814	.	5/10	.	.	.	.	.	.	.	.	rs751848638	5/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,synonymous_variant,p.%3D,ENST00000535860,;PCK1,synonymous_variant,p.%3D,ENST00000319441,;PCK1,intron_variant,,ENST00000543666,;PCK1,non_coding_transcript_exon_variant,,ENST00000498194,;PCK1,non_coding_transcript_exon_variant,,ENST00000470051,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,upstream_gene_variant,,ENST00000485958,;	905	54	69	SUCCESS
NELFCD	51497	.	GRCh37	20	57569232	57569250	+	frameshift_variant	Frame_Shift_Del	DEL	ATGACAGCATCGCAGGTAC	ATGACAGCATCGCAGGTAC	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	ATGACAGCATCGCAGGTAC	ATGACAGCATCGCAGGTAC	.	.	.	.	.	.	.	.	.	.	.	.	.	132	15	105	0	ENST00000602795.1:c.1703_1721del	p.Asn568ThrfsTer11	p.N568Tfs*11	ENST00000602795	NM_198976.2	568	aATGACAGCATCGCAGGTACc/ac	0	.	.	.	.	.	-	NDSIAGT/X	protein_coding	YES	CCDS13473.2	1703-1721	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGAGAATGACAGCATCGCAGGTACCATCA	NONE	.	.	hmmpanther:PTHR12144,hmmpanther:PTHR12144:SF0,Pfam_domain:PF04858	.	.	ENSP00000473290	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000602795	Transcript	.	.	ENSG00000101158	15934	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NELFCD	HGNC	H0UI80_HUMAN	.	UPI0000D4E339	deletion	NELFCD,frameshift_variant,p.Asn559ThrfsTer11,ENST00000344018,;NELFCD,frameshift_variant,p.Asn568ThrfsTer11,ENST00000602795,;CTSZ,downstream_gene_variant,,ENST00000217131,;NELFCD,splice_donor_variant,,ENST00000479207,;NELFCD,downstream_gene_variant,,ENST00000497935,;NELFCD,frameshift_variant,p.Asn562ThrfsTer11,ENST00000460601,;NELFCD,non_coding_transcript_exon_variant,,ENST00000478389,;NELFCD,non_coding_transcript_exon_variant,,ENST00000474543,;NELFCD,non_coding_transcript_exon_variant,,ENST00000486263,;NELFCD,non_coding_transcript_exon_variant,,ENST00000477741,;CTSZ,downstream_gene_variant,,ENST00000503833,;NELFCD,downstream_gene_variant,,ENST00000482747,;CTSZ,downstream_gene_variant,,ENST00000488395,;NELFCD,downstream_gene_variant,,ENST00000490205,;	1751-1769	105	147	SUCCESS
PPDPF	79144	.	GRCh37	20	62152889	62152889	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1013356789	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	16	86	0	ENST00000370179.3:c.80A>G	p.Asn27Ser	p.N27S	ENST00000370179	NM_024299.2	27	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS13523.1	80	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAACAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14572:SF0,hmmpanther:PTHR14572,Pfam_domain:PF15060,Prints_domain:PR02071	.	.	ENSP00000359198	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000370179	Transcript	.	.	ENSG00000125534	16142	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.187)	.	tolerated(0.3)	.	PPDPF_HUMAN	PPDPF	HGNC	.	.	UPI000003BBD7	SNV	PPDPF,missense_variant,p.Asn27Ser,ENST00000370177,;PPDPF,missense_variant,p.Asn27Ser,ENST00000370179,;PPDPF,non_coding_transcript_exon_variant,,ENST00000473620,;PPDPF,downstream_gene_variant,,ENST00000464438,;	276	87	141	SUCCESS
KRTAP24-1	643803	.	GRCh37	21	31654629	31654629	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs529683700	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	93	0	ENST00000340345.4:c.622T>A	p.Tyr208Asn	p.Y208N	ENST00000340345	NM_001085455.1	208	Tat/Aat	0	.	G:0	.	G:0	.	T	Y/N	protein_coding	YES	CCDS42915.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATAATTTC	NONE	by1000G	.	hmmpanther:PTHR23260:SF2,hmmpanther:PTHR23260	G:0	.	ENSP00000339238	G:0	1/1	.	.	.	.	.	.	.	.	rs529683700	1/1	PASS	ENST00000340345	Transcript	.	G:0.0002	ENSG00000188694	33902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	G:0.001	tolerated(0.13)	.	KR241_HUMAN	KRTAP24-1	HGNC	.	.	UPI00005C50F3	SNV	KRTAP24-1,missense_variant,p.Tyr208Asn,ENST00000340345,;	648	93	52	SUCCESS
URB1	9875	.	GRCh37	21	33705673	33705673	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1284048380	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	73	0	ENST00000382751.3:c.4913A>G	p.Tyr1638Cys	p.Y1638C	ENST00000382751	NM_014825.2	1638	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46645.1	4913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATAGAGG	NONE	.	.	hmmpanther:PTHR13500	.	.	ENSP00000372199	.	30/39	.	.	.	.	.	.	.	.	.	30/39	PASS	ENST00000382751	Transcript	.	.	ENSG00000142207	17344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NPA1P_HUMAN	URB1	HGNC	.	.	UPI0000185F65	SNV	URB1,missense_variant,p.Tyr1638Cys,ENST00000382751,;URB1,downstream_gene_variant,,ENST00000492603,;URB1,non_coding_transcript_exon_variant,,ENST00000480196,;	5029	73	51	SUCCESS
SYNJ1	8867	.	GRCh37	21	34003602	34003633	+	frameshift_variant	Frame_Shift_Del	DEL	AATTTTTAATGTAGACTGGCCCTGTAGATCAA	AATTTTTAATGTAGACTGGCCCTGTAGATCAA	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	AATTTTTAATGTAGACTGGCCCTGTAGATCAA	AATTTTTAATGTAGACTGGCCCTGTAGATCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	79	0	ENST00000433931.2:c.4511_4542del	p.Phe1504Ter	p.F1504*	ENST00000433931	NM_003895.3	1504	tTTGATCTACAGGGCCAGTCTACATTAAAAATT/t	0	.	.	.	.	.	-	FDLQGQSTLKI/X	protein_coding	YES	CCDS33539.2	4511-4542	VARSCANI*|PINDEL	.	GTTGCTAATTTTTAATGTAGACTGGCCCTGTAGATCAAAACTG	NONE	.	.	.	.	.	ENSP00000409667	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	deletion	SYNJ1,frameshift_variant,p.Phe1418Ter,ENST00000382491,;SYNJ1,frameshift_variant,p.Phe1465Ter,ENST00000322229,;SYNJ1,frameshift_variant,p.Phe1504Ter,ENST00000433931,;SYNJ1,3_prime_UTR_variant,,ENST00000382499,;SYNJ1,3_prime_UTR_variant,,ENST00000438952,;SYNJ1,3_prime_UTR_variant,,ENST00000357345,;SYNJ1,downstream_gene_variant,,ENST00000418301,;	4519-4550	79	45	SUCCESS
CBR1	873	.	GRCh37	21	37444637	37444637	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	96	0	ENST00000290349.6:c.398-107T>A		p.*133*	ENST00000290349	NM_001757.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13641.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTCTCTC	NONE	.	.	.	.	.	ENSP00000290349	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290349	Transcript	.	.	ENSG00000159228	1548	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBR1_HUMAN	CBR1	HGNC	.	.	UPI000004C784	SNV	CBR1,missense_variant,p.Val188Asp,ENST00000399191,;CBR1,3_prime_UTR_variant,,ENST00000530908,;CBR1,intron_variant,,ENST00000290349,;SETD4,intron_variant,,ENST00000399201,;CBR1,downstream_gene_variant,,ENST00000439427,;AP000688.14,intron_variant,,ENST00000535199,;AP000688.14,downstream_gene_variant,,ENST00000415147,;CBR1,downstream_gene_variant,,ENST00000466328,;	.	96	83	SUCCESS
SDF2L1	23753	.	GRCh37	22	21996797	21996797	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1014770028	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	94	0	ENST00000248958.4:c.172A>G	p.Ile58Val	p.I58V	ENST00000248958	NM_022044.2	58	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13792.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACATCAAA	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF9,PROSITE_profiles:PS50919	.	.	ENSP00000248958	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000248958	Transcript	.	.	ENSG00000128228	10676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	SDF2L_HUMAN	SDF2L1	HGNC	.	.	UPI0000048F31	SNV	SDF2L1,missense_variant,p.Ile58Val,ENST00000248958,;KB-1440D3.14,downstream_gene_variant,,ENST00000609038,;SDF2L1,non_coding_transcript_exon_variant,,ENST00000466935,;	248	94	67	SUCCESS
TFIP11	24144	.	GRCh37	22	26902861	26902861	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	75	0	ENST00000405938.1:c.243C>T	p.Ile81=	p.I81=	ENST00000405938	NM_001008697.1	81	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS13838.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTGATGAA	NONE	.	.	hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,Pfam_domain:PF12457,PIRSF_domain:PIRSF017706	.	.	ENSP00000384421	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000407690	Transcript	.	.	ENSG00000100109	17165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFP11_HUMAN	TFIP11	HGNC	F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN	.	UPI0000137191	SNV	TFIP11,synonymous_variant,p.%3D,ENST00000407431,;TFIP11,synonymous_variant,p.%3D,ENST00000418876,;TFIP11,synonymous_variant,p.%3D,ENST00000407148,;TFIP11,synonymous_variant,p.%3D,ENST00000407690,;TFIP11,synonymous_variant,p.%3D,ENST00000405938,;TFIP11,synonymous_variant,p.%3D,ENST00000455080,;TFIP11,synonymous_variant,p.%3D,ENST00000420242,;TFIP11,downstream_gene_variant,,ENST00000440258,;TFIP11,upstream_gene_variant,,ENST00000450493,;TFIP11,upstream_gene_variant,,ENST00000496523,;TFIP11,non_coding_transcript_exon_variant,,ENST00000472918,;TFIP11,non_coding_transcript_exon_variant,,ENST00000479489,;TFIP11,upstream_gene_variant,,ENST00000493698,;TFIP11,downstream_gene_variant,,ENST00000464449,;	527	75	52	SUCCESS
DEPDC5	9681	.	GRCh37	22	32215183	32215183	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	79	0	ENST00000400246.1:c.1842A>G	p.Arg614=	p.R614=	ENST00000400246		614	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS46692.1	1842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGAAGGCG	NONE	.	.	hmmpanther:PTHR13179	.	.	ENSP00000371546	.	21/42	.	.	.	.	.	.	.	.	.	21/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,synonymous_variant,p.%3D,ENST00000382105,;DEPDC5,synonymous_variant,p.%3D,ENST00000266091,;DEPDC5,synonymous_variant,p.%3D,ENST00000400248,;DEPDC5,synonymous_variant,p.%3D,ENST00000382112,;DEPDC5,synonymous_variant,p.%3D,ENST00000400246,;DEPDC5,synonymous_variant,p.%3D,ENST00000382111,;DEPDC5,synonymous_variant,p.%3D,ENST00000433147,;DEPDC5,synonymous_variant,p.%3D,ENST00000535622,;DEPDC5,synonymous_variant,p.%3D,ENST00000536766,;DEPDC5,synonymous_variant,p.%3D,ENST00000400249,;DEPDC5,downstream_gene_variant,,ENST00000400242,;DEPDC5,synonymous_variant,p.%3D,ENST00000448753,;CTA-440B3.1,upstream_gene_variant,,ENST00000429025,;	1912	79	42	SUCCESS
PNPLA5	150379	.	GRCh37	22	44282314	44282314	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768114170	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	49	0	ENST00000216177.4:c.818C>T	p.Pro273Leu	p.P273L	ENST00000216177	NM_138814.3	273	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14053.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGGGGCT	NONE	byFrequency	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF4,Superfamily_domains:SSF52151	.	.	ENSP00000216177	.	6/9	.	.	.	.	.	.	.	.	rs768114170	6/9	PASS	ENST00000216177	Transcript	.	.	ENSG00000100341	24888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.13)	.	PLPL5_HUMAN	PNPLA5	HGNC	.	.	UPI000006D0C8	SNV	PNPLA5,missense_variant,p.Pro159Leu,ENST00000381198,;PNPLA5,missense_variant,p.Pro159Leu,ENST00000593866,;PNPLA5,missense_variant,p.Pro273Leu,ENST00000216177,;PNPLA5,missense_variant,p.Pro273Leu,ENST00000597664,;PNPLA5,missense_variant,p.Pro181Leu,ENST00000438734,;	951	49	39	SUCCESS
GCC2	9648	.	GRCh37	2	109086974	109086974	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	94	319	1	ENST00000309863.6:c.1189C>A	p.Gln397Lys	p.Q397K	ENST00000309863	NM_181453.3	397	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS33268.1	1189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACAGGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23	.	.	ENSP00000307939	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000309863	Transcript	.	.	ENSG00000135968	23218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(0.6)	.	GCC2_HUMAN	GCC2	HGNC	B8ZZW2_HUMAN,B3KR21_HUMAN	.	UPI000049DF0C	SNV	GCC2,missense_variant,p.Gln397Lys,ENST00000309863,;GCC2,missense_variant,p.Gln360Lys,ENST00000409896,;GCC2,upstream_gene_variant,,ENST00000492785,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,upstream_gene_variant,,ENST00000462897,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,3_prime_UTR_variant,,ENST00000482325,;	1903	320	240	SUCCESS
C1QL2	165257	.	GRCh37	2	119915526	119915526	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	25	103	0	ENST00000272520.3:c.320A>C	p.Glu107Ala	p.E107A	ENST00000272520	NM_182528.3	107	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS42737.1	320	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTCTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF9,Pfam_domain:PF01391	.	.	ENSP00000272520	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000272520	Transcript	.	.	ENSG00000144119	24181	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.091)	.	tolerated(0.26)	.	C1QL2_HUMAN	C1QL2	HGNC	.	.	UPI000013D95E	SNV	C1QL2,missense_variant,p.Glu107Ala,ENST00000272520,;	940	103	142	SUCCESS
TTN	7273	.	GRCh37	2	179622641	179622652	+	intron_variant	Intron	DEL	ATCCTGAAAAGA	ATCCTGAAAAGA	GTC	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	ATCCTGAAAAGA	ATCCTGAAAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	84	0	ENST00000591111.1:c.10303+1059_10303+1070delinsGAC		p.*3435*	ENST00000591111				0	.	.	.	.	.	GTC	.	protein_coding	YES	CCDS59435.1	?-10306	VARSCANI*|PINDEL	.	TGCTAAATCCTGAAAAGAAGCAT	NONE	.	.	.	.	.	ENSP00000467141	.	45/363	.	.	.	.	.	.	.	.	.	45/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	44/362	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	substitution	TTN,splice_acceptor_variant,,ENST00000359218,;TTN,splice_acceptor_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000360870,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,upstream_gene_variant,,ENST00000610005,;	?-10531	84	61	SUCCESS
PDE1A	5136	.	GRCh37	2	183291302	183291302	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	98	0	ENST00000410103.1:c.101+95701A>T		p.*34*	ENST00000410103	NM_001003683.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2285.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTACCTA	NONE	.	.	.	.	.	ENSP00000410309	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435564	Transcript	.	.	ENSG00000115252	8774	.	.	MODIFIER	1/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDE1A_HUMAN	PDE1A	HGNC	Q9Y633_HUMAN,Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN,B7Z3A7_HUMAN	.	UPI0000001072	SNV	PDE1A,splice_region_variant,,ENST00000351439,;PDE1A,splice_region_variant,,ENST00000409365,;PDE1A,intron_variant,,ENST00000456212,;PDE1A,intron_variant,,ENST00000331935,;PDE1A,intron_variant,,ENST00000410103,;PDE1A,intron_variant,,ENST00000358139,;PDE1A,intron_variant,,ENST00000435564,;PDE1A,intron_variant,,ENST00000536095,;PDE1A,intron_variant,,ENST00000462938,;PDE1A,intron_variant,,ENST00000482782,;PDE1A,intron_variant,,ENST00000495511,;	.	98	63	SUCCESS
SF3B1	23451	.	GRCh37	2	198273248	198273248	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	84	0	ENST00000335508.6:c.962A>T	p.Asp321Val	p.D321V	ENST00000335508	NM_012433.2	321	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS33356.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAATCTCCA	NONE	.	.	hmmpanther:PTHR12097,Pfam_domain:PF08920	.	.	ENSP00000335321	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Asp321Val,ENST00000335508,;SNORA4,downstream_gene_variant,,ENST00000365564,;SF3B1,non_coding_transcript_exon_variant,,ENST00000468925,;SF3B1,downstream_gene_variant,,ENST00000470268,;	1054	84	54	SUCCESS
NBEAL1	65065	.	GRCh37	2	203880883	203880883	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	9	0	ENST00000449802.1:c.-225A>G		p.*75*	ENST00000449802	NM_001114132.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46495.1	.	MUTECT|MUSE	.	GATTTATTTAA	NONE	.	.	.	.	.	ENSP00000399903	.	2/55	.	.	.	.	.	.	.	.	.	2/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,5_prime_UTR_variant,,ENST00000449802,;NBEAL1,non_coding_transcript_exon_variant,,ENST00000478884,;NBEAL1,non_coding_transcript_exon_variant,,ENST00000492870,;WDR12,upstream_gene_variant,,ENST00000477723,;NBEAL1,non_coding_transcript_exon_variant,,ENST00000497505,;NBEAL1,upstream_gene_variant,,ENST00000460416,;	109	9	11	SUCCESS
CYP27A1	1593	.	GRCh37	2	219646887	219646888	+	5_prime_UTR_variant	5'UTR	INS	-	-	GG	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	35	0	ENST00000258415.4:c.-18_-17dup		p.*6*	ENST00000258415	NM_000784.3			0	.	.	.	.	.	GG	.	protein_coding	YES	CCDS2423.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGCAGGCGC	NONE	.	.	.	.	.	ENSP00000258415	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000258415	Transcript	.	.	ENSG00000135929	2605	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP27A_HUMAN	CYP27A1	HGNC	C9J1K5_HUMAN	.	UPI00001281BD	insertion	CYP27A1,5_prime_UTR_variant,,ENST00000258415,;CYP27A1,5_prime_UTR_variant,,ENST00000445971,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000494263,;CYP27A1,upstream_gene_variant,,ENST00000466602,;	409-410	35	40	SUCCESS
KLHL30	377007	.	GRCh37	2	239049437	239049437	+	synonymous_variant	Silent	SNP	G	G	A	rs374999323	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	93	0	ENST00000409223.1:c.42G>A	p.Ser14=	p.S14=	ENST00000409223		14	tcG/tcA	0	A:0	.	.	.	.	A	S	protein_coding	YES	CCDS46555.2	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGCATGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	A:0.0001	ENSP00000386389	.	2/8	.	.	.	.	.	.	.	.	rs374999323	2/8	PASS	ENST00000409223	Transcript	.	.	ENSG00000168427	24770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH30_HUMAN	KLHL30	HGNC	J3KND5_HUMAN	.	UPI00001D7DA5	SNV	KLHL30,synonymous_variant,p.%3D,ENST00000409223,;KLHL30,5_prime_UTR_variant,,ENST00000305959,;	149	93	97	SUCCESS
CGREF1	10669	.	GRCh37	2	27327254	27327254	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	143	0	ENST00000260595.5:c.-11-9T>G		p.*4*	ENST00000260595				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33162.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAAGGAAG	NONE	.	.	.	.	.	ENSP00000385452	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000402394	Transcript	.	.	ENSG00000138028	16962	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CGRE1_HUMAN	CGREF1	HGNC	.	.	UPI000013D0EB	SNV	CGREF1,missense_variant,p.Leu116Arg,ENST00000404694,;CGREF1,intron_variant,,ENST00000452318,;CGREF1,intron_variant,,ENST00000405600,;CGREF1,intron_variant,,ENST00000402550,;CGREF1,intron_variant,,ENST00000260595,;CGREF1,intron_variant,,ENST00000312734,;CGREF1,intron_variant,,ENST00000402394,;KHK,downstream_gene_variant,,ENST00000260599,;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000260598,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,;CGREF1,upstream_gene_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000464371,;	.	143	117	SUCCESS
TSSC1	0	.	GRCh37	2	3193108	3193108	+	synonymous_variant	Silent	SNP	T	T	G	rs756969533	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	35	120	0	ENST00000382125.4:c.1161A>C	p.Leu387=	p.L387=	ENST00000382125	NM_003310.2	387	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1651.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCATAGCAG	NONE	.	.	hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205	.	.	ENSP00000371559	.	9/9	.	.	.	.	.	.	.	.	rs756969533	9/9	PASS	ENST00000382125	Transcript	.	.	ENSG00000032389	12383	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSSC1_HUMAN	TSSC1	HGNC	.	.	UPI000006DFE1	SNV	TSSC1,synonymous_variant,p.%3D,ENST00000398659,;TSSC1,synonymous_variant,p.%3D,ENST00000382125,;TSSC1,downstream_gene_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,downstream_gene_variant,,ENST00000463662,;TSSC1,non_coding_transcript_exon_variant,,ENST00000496433,;TSSC1,downstream_gene_variant,,ENST00000482570,;TSSC1,downstream_gene_variant,,ENST00000455162,;TSSC1,downstream_gene_variant,,ENST00000435721,;	1354	120	149	SUCCESS
SOX11	6664	.	GRCh37	2	5832874	5832874	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	26	154	0	ENST00000322002.3:c.21C>T	p.Ser7=	p.S7=	ENST00000322002	NM_003108.3	7	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1654.1	21	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCTTGGA	NONE	.	.	hmmpanther:PTHR10270:SF113,hmmpanther:PTHR10270,PIRSF_domain:PIRSF038098	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,synonymous_variant,p.%3D,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	76	154	147	SUCCESS
CEP68	23177	.	GRCh37	2	65305030	65305030	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	70	0	ENST00000377990.2:c.2036A>C	p.Gln679Pro	p.Q679P	ENST00000377990	NM_015147.2	679	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1880.2	2036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCAGTCTC	NONE	.	.	hmmpanther:PTHR14514,Gene3D:1.20.58.60,Superfamily_domains:SSF46966	.	.	ENSP00000367229	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000377990	Transcript	.	.	ENSG00000011523	29076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CEP68_HUMAN	CEP68	HGNC	Q53RN6_HUMAN	.	UPI0000505465	SNV	CEP68,missense_variant,p.Gln542Pro,ENST00000260569,;CEP68,missense_variant,p.Gln679Pro,ENST00000377990,;CEP68,intron_variant,,ENST00000546106,;CEP68,downstream_gene_variant,,ENST00000537589,;RAB1A,intron_variant,,ENST00000494188,;CEP68,downstream_gene_variant,,ENST00000497039,;	2239	70	56	SUCCESS
ASTL	431705	.	GRCh37	2	96789942	96789942	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	8	168	0	ENST00000342380.2:c.943G>T	p.Ala315Ser	p.A315S	ENST00000342380	NM_001002036.3	315	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33249.1	943	MUTECT|MUSE	.	CAGTGCCTCCA	NONE	.	.	.	.	.	ENSP00000343674	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.173)	.	deleterious_low_confidence(0.01)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Ala315Ser,ENST00000342380,;	943	168	192	SUCCESS
ANKRD36B	57730	.	GRCh37	2	98165921	98165921	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs761195894	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	91	0	ENST00000258459.7:n.1718A>G		p.*573*	ENST00000258459				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	GGCTATATTCA	NONE	.	.	.	.	.	.	.	20/44	.	.	.	.	.	.	.	.	rs761195894	20/44	PASS	ENST00000258459	Transcript	.	.	ENSG00000196912	29333	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ANKRD36B	HGNC	.	.	.	SNV	ANKRD36B,non_coding_transcript_exon_variant,,ENST00000443455,;ANKRD36B,downstream_gene_variant,,ENST00000419390,;ANKRD36B,non_coding_transcript_exon_variant,,ENST00000377003,;ANKRD36B,non_coding_transcript_exon_variant,,ENST00000258459,;ANKRD36B,non_coding_transcript_exon_variant,,ENST00000359901,;ANKRD36B,non_coding_transcript_exon_variant,,ENST00000438709,;ANKRD36B,upstream_gene_variant,,ENST00000447597,;	1718	91	51	SUCCESS
TSGA10	80705	.	GRCh37	2	99721827	99721827	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1245606269	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	61	0	ENST00000355053.4:c.454C>A	p.His152Asn	p.H152N	ENST00000355053	NM_182911.3	152	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS2037.1	454	RADIA|MUTECT|MUSE|VARSCANS	.	ATTATGAACTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF9,hmmpanther:PTHR23159	.	.	ENSP00000377123	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000393483	Transcript	.	.	ENSG00000135951	14927	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.036)	.	tolerated(0.07)	.	TSG10_HUMAN	TSGA10	HGNC	F8WA32_HUMAN	.	UPI0000072CE3	SNV	TSGA10,missense_variant,p.His152Asn,ENST00000410001,;TSGA10,missense_variant,p.His152Asn,ENST00000542655,;TSGA10,missense_variant,p.His152Asn,ENST00000409564,;TSGA10,missense_variant,p.His152Asn,ENST00000539964,;TSGA10,missense_variant,p.His152Asn,ENST00000355053,;TSGA10,missense_variant,p.His152Asn,ENST00000393483,;TSGA10,missense_variant,p.His152Asn,ENST00000393482,;TSGA10,non_coding_transcript_exon_variant,,ENST00000478090,;TSGA10,intron_variant,,ENST00000488960,;TSGA10,downstream_gene_variant,,ENST00000497915,;TSGA10,downstream_gene_variant,,ENST00000489926,;TSGA10,downstream_gene_variant,,ENST00000471174,;AC019097.7,downstream_gene_variant,,ENST00000424783,;	1299	62	54	SUCCESS
EPHB3	2049	.	GRCh37	3	184290389	184290389	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	9	69	0	ENST00000330394.2:c.281C>T	p.Thr94Met	p.T94M	ENST00000330394	NM_004443.3	94	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS3268.1	281	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCACGGGGT	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:2.60.120.260,Pfam_domain:PF01404,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000332118	.	3/16	.	.	.	.	.	.	.	.	COSM1205517	3/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Thr94Met,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;	733	69	86	SUCCESS
TRNT1	51095	.	GRCh37	3	3170741	3170741	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1201044380	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	43	0	ENST00000251607.6:c.17A>G	p.Tyr6Cys	p.Y6C	ENST00000251607	NM_182916.2	6	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2561.2	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTATCATT	NONE	.	.	hmmpanther:PTHR13734,hmmpanther:PTHR13734:SF5	.	.	ENSP00000251607	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000251607	Transcript	.	.	ENSG00000072756	17341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.17)	.	TRNT1_HUMAN	TRNT1	HGNC	C9JRS7_HUMAN	.	UPI000013CD08	SNV	TRNT1,missense_variant,p.Tyr6Cys,ENST00000420393,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000339437,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000413000,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000251607,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000402675,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000280591,;IL5RA,upstream_gene_variant,,ENST00000445701,;TRNT1,non_coding_transcript_exon_variant,,ENST00000469632,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000397779,;TRNT1,missense_variant,p.Tyr6Cys,ENST00000434583,;TRNT1,non_coding_transcript_exon_variant,,ENST00000465998,;TRNT1,upstream_gene_variant,,ENST00000482311,;	119	43	54	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913400	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	120	0	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33C|c.98C>G|191,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	120	94	SUCCESS
IP6K2	51447	.	GRCh37	3	48732435	48732435	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	31	0	ENST00000328631.5:c.202+88A>T		p.*68*	ENST00000328631	NM_016291.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2777.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTCCAGG	NONE	.	.	.	.	.	ENSP00000331103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328631	Transcript	.	.	ENSG00000068745	17313	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K2_HUMAN	IP6K2	HGNC	C9JU99_HUMAN,C9JMC9_HUMAN,C9JLG7_HUMAN,C9JK62_HUMAN,C9JHX0_HUMAN,C9JGK2_HUMAN,B2RCP4_HUMAN	.	UPI00000732B2	SNV	IP6K2,missense_variant,p.Glu97Val,ENST00000453202,;IP6K2,missense_variant,p.Glu152Val,ENST00000431721,;IP6K2,missense_variant,p.Glu97Val,ENST00000449610,;IP6K2,missense_variant,p.Glu97Val,ENST00000417896,;IP6K2,missense_variant,p.Glu156Val,ENST00000443964,;IP6K2,missense_variant,p.Glu155Val,ENST00000446860,;IP6K2,intron_variant,,ENST00000413298,;IP6K2,intron_variant,,ENST00000449563,;IP6K2,intron_variant,,ENST00000412850,;IP6K2,intron_variant,,ENST00000413654,;IP6K2,intron_variant,,ENST00000437427,;IP6K2,intron_variant,,ENST00000454335,;IP6K2,intron_variant,,ENST00000455545,;IP6K2,intron_variant,,ENST00000340879,;IP6K2,intron_variant,,ENST00000443853,;IP6K2,intron_variant,,ENST00000450045,;IP6K2,intron_variant,,ENST00000328631,;IP6K2,intron_variant,,ENST00000432678,;IP6K2,downstream_gene_variant,,ENST00000434860,;IP6K2,downstream_gene_variant,,ENST00000424035,;IP6K2,downstream_gene_variant,,ENST00000440424,;IP6K2,intron_variant,,ENST00000436134,;IP6K2,downstream_gene_variant,,ENST00000476645,;IP6K2,missense_variant,p.Glu97Val,ENST00000433104,;IP6K2,intron_variant,,ENST00000479914,;IP6K2,intron_variant,,ENST00000412795,;IP6K2,intron_variant,,ENST00000416707,;IP6K2,upstream_gene_variant,,ENST00000491686,;	.	31	19	SUCCESS
KCTD6	200845	.	GRCh37	3	58487086	58487086	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	28	156	0	ENST00000355076.6:c.441T>G	p.Thr147=	p.T147=	ENST00000355076	NM_153331.3	147	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2891.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTAAGGT	NONE	.	.	hmmpanther:PTHR14499:SF10,hmmpanther:PTHR14499	.	.	ENSP00000347188	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355076	Transcript	.	.	ENSG00000168301	22235	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCTD6_HUMAN	KCTD6	HGNC	F5H7I0_HUMAN	.	UPI00000717C0	SNV	KCTD6,synonymous_variant,p.%3D,ENST00000355076,;KCTD6,synonymous_variant,p.%3D,ENST00000404589,;KCTD6,synonymous_variant,p.%3D,ENST00000490264,;ACOX2,downstream_gene_variant,,ENST00000459701,;ACOX2,downstream_gene_variant,,ENST00000302819,;KCTD6,downstream_gene_variant,,ENST00000491093,;KCTD6,downstream_gene_variant,,ENST00000479179,;ACOX2,downstream_gene_variant,,ENST00000481527,;KCTD6,downstream_gene_variant,,ENST00000479470,;ACOX2,downstream_gene_variant,,ENST00000467738,;ACOX2,downstream_gene_variant,,ENST00000460921,;	1424	156	128	SUCCESS
EBLN2	55096	.	GRCh37	3	73111063	73111063	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	63	0	ENST00000533473.1:c.-170A>G		p.*57*	ENST00000533473	NM_018029.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54608.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAAATAAGA	NONE	.	.	.	.	.	ENSP00000432104	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000533473	Transcript	.	.	ENSG00000255423	25493	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EBLN2_HUMAN	EBLN2	HGNC	.	.	UPI0000231C2D	SNV	EBLN2,5_prime_UTR_variant,,ENST00000533473,;PPP4R2,intron_variant,,ENST00000488810,;PPP4R2,intron_variant,,ENST00000356692,;PPP4R2,intron_variant,,ENST00000394284,;PPP4R2,intron_variant,,ENST00000295862,;PPP4R2,upstream_gene_variant,,ENST00000460360,;PPP4R2,downstream_gene_variant,,ENST00000476505,;PPP4R2,intron_variant,,ENST00000482242,;PPP4R2,downstream_gene_variant,,ENST00000470976,;	254	63	72	SUCCESS
CRYBG3	131544	.	GRCh37	3	97660086	97660086	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	111	0	ENST00000389622.2:c.377T>C	p.Ile126Thr	p.I126T	ENST00000389622		126	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	.	2756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATTTCTC	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11818:SF38,hmmpanther:PTHR11818,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000182096	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000182096	Transcript	.	.	ENSG00000080200	34427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.01)	.	CRBG3_HUMAN	CRYBG3	HGNC	.	.	UPI00006E232D	SNV	CRYBG3,missense_variant,p.Ile125Thr,ENST00000495403,;CRYBG3,missense_variant,p.Ile919Thr,ENST00000182096,;CRYBG3,missense_variant,p.Ile126Thr,ENST00000389622,;MINA,downstream_gene_variant,,ENST00000503097,;MINA,downstream_gene_variant,,ENST00000394198,;MINA,downstream_gene_variant,,ENST00000360258,;MINA,downstream_gene_variant,,ENST00000333396,;CRYBG3,non_coding_transcript_exon_variant,,ENST00000485253,;MINA,downstream_gene_variant,,ENST00000503517,;MINA,downstream_gene_variant,,ENST00000506682,;	2820	111	76	SUCCESS
OR5K1	26339	.	GRCh37	3	98188512	98188512	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	122	0	ENST00000332650.5:c.92T>A	p.Phe31Tyr	p.F31Y	ENST00000332650	NM_001004736.2	31	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS43115.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTTCTTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000373193	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332650	Transcript	.	.	ENSG00000232382	8349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	OR5K1_HUMAN	OR5K1	HGNC	.	.	UPI000013F5A3	SNV	OR5K1,missense_variant,p.Phe31Tyr,ENST00000332650,;	189	122	103	SUCCESS
ADH4	127	.	GRCh37	4	100047761	100047761	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	54	0	ENST00000265512.7:c.1102A>G	p.Met368Val	p.M368V	ENST00000265512	NM_000670.3	368	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS34032.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATTAGGT	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000265512	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000265512	Transcript	.	.	ENSG00000198099	252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0)	.	ADH4_HUMAN	ADH4	HGNC	.	.	UPI00001AE8DE	SNV	ADH4,missense_variant,p.Met368Val,ENST00000265512,;ADH4,missense_variant,p.Met387Val,ENST00000508393,;ADH4,missense_variant,p.Met387Val,ENST00000505590,;ADH4,missense_variant,p.Met387Val,ENST00000423445,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,3_prime_UTR_variant,,ENST00000509471,;	1177	54	38	SUCCESS
TET2	54790	.	GRCh37	4	106159338	106159338	+	intron_variant	Intron	SNP	A	A	G	rs1413426678	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	91	0	ENST00000380013.4:c.3409+830A>G		p.*1137*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAACAATT	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000413648,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000513237,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,intron_variant,,ENST00000265149,;	.	91	58	SUCCESS
DCAF16	54876	.	GRCh37	4	17806312	17806312	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	60	0	ENST00000382247.1:c.-548A>G		p.*183*	ENST00000382247	NM_017741.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3423.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATAGGTG	NONE	.	.	.	.	.	ENSP00000371682	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000382247	Transcript	.	.	ENSG00000163257	25987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCA16_HUMAN	DCAF16	HGNC	.	.	UPI000006D3DE	SNV	DCAF16,5_prime_UTR_variant,,ENST00000382247,;DCAF16,5_prime_UTR_variant,,ENST00000536863,;DCAF16,non_coding_transcript_exon_variant,,ENST00000507768,;DCAF16,downstream_gene_variant,,ENST00000507731,;	514	60	71	SUCCESS
TENM3	55714	.	GRCh37	4	183721241	183721241	+	synonymous_variant	Silent	SNP	C	C	T	rs1443519188	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	57	0	ENST00000511685.1:c.7837C>T	p.Leu2613=	p.L2613=	ENST00000511685		2613	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47165.1	7837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCTGGAC	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,synonymous_variant,p.%3D,ENST00000511685,;TENM3,synonymous_variant,p.%3D,ENST00000406950,;	7960	57	70	SUCCESS
REST	5978	.	GRCh37	4	57797908	57797908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	31	179	0	ENST00000309042.7:c.2884A>G	p.Ile962Val	p.I962V	ENST00000309042	NM_005612.4	962	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3509.1	2884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTATAAAT	NONE	.	.	.	.	.	ENSP00000311816	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309042	Transcript	.	.	ENSG00000084093	9966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.13)	.	REST_HUMAN	REST	HGNC	.	.	UPI000013FBF6	SNV	REST,missense_variant,p.Ile962Val,ENST00000309042,;REST,downstream_gene_variant,,ENST00000514063,;	3198	179	162	SUCCESS
MAN2B2	23324	.	GRCh37	4	6598950	6598950	+	synonymous_variant	Silent	SNP	C	C	T	rs1371097912	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	22	88	0	ENST00000285599.3:c.1168C>T	p.Leu390=	p.L390=	ENST00000285599	NM_015274.1	390	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33951.1	1168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACCTGTGG	NONE	.	.	hmmpanther:PTHR11607:SF5,hmmpanther:PTHR11607,Pfam_domain:PF09261,Gene3D:3bvxA02,SMART_domains:SM00872,Superfamily_domains:SSF88688	.	.	ENSP00000285599	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000285599	Transcript	.	.	ENSG00000013288	29623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MA2B2_HUMAN	MAN2B2	HGNC	Q05BN7_HUMAN,B3KQN1_HUMAN	.	UPI000004BF05	SNV	MAN2B2,synonymous_variant,p.%3D,ENST00000504248,;MAN2B2,synonymous_variant,p.%3D,ENST00000505907,;MAN2B2,synonymous_variant,p.%3D,ENST00000285599,;	1204	88	129	SUCCESS
FRAS1	80144	.	GRCh37	4	79204050	79204050	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1353392763	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	77	0	ENST00000264895.6:c.1184C>T	p.Ser395Phe	p.S395F	ENST00000264895	NM_025074.6	395	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS54771.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCTTGCC	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,PROSITE_patterns:PS01208,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000264895	.	12/74	.	.	.	.	.	.	.	.	.	12/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Ser324Phe,ENST00000502446,;FRAS1,missense_variant,p.Ser395Phe,ENST00000325942,;FRAS1,missense_variant,p.Ser395Phe,ENST00000264899,;FRAS1,missense_variant,p.Ser395Phe,ENST00000264895,;FRAS1,missense_variant,p.Ser238Phe,ENST00000508900,;	1624	77	77	SUCCESS
CPZ	8532	.	GRCh37	4	8607787	8607787	+	synonymous_variant	Silent	SNP	C	C	T	rs971507813	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	107	0	ENST00000360986.4:c.781C>T	p.Leu261=	p.L261=	ENST00000360986	NM_001014447.2	261	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33953.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACCTAGCC	NONE	.	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	.	.	ENSP00000354255	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000360986	Transcript	.	.	ENSG00000109625	2333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPZ_HUMAN	CPZ	HGNC	.	.	UPI000020BCC5	SNV	CPZ,synonymous_variant,p.%3D,ENST00000360986,;CPZ,synonymous_variant,p.%3D,ENST00000315782,;CPZ,synonymous_variant,p.%3D,ENST00000382480,;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000504070,;CPZ,downstream_gene_variant,,ENST00000506287,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;	955	107	77	SUCCESS
PPIP5K2	23262	.	GRCh37	5	102509660	102509660	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	37	0	ENST00000358359.3:c.2513A>G	p.Tyr838Cys	p.Y838C	ENST00000358359	NM_001281471.1	838	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34207.1	2513	MUTECT|MUSE	.	TCGCTATGGTG	NONE	.	.	Superfamily_domains:SSF53254,Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750	.	.	ENSP00000313070	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000321521	Transcript	.	.	ENSG00000145725	29035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	VIP2_HUMAN	PPIP5K2	HGNC	K7EPT7_HUMAN,D6RFG4_HUMAN	.	UPI000006E414	SNV	PPIP5K2,missense_variant,p.Tyr838Cys,ENST00000414217,;PPIP5K2,missense_variant,p.Tyr838Cys,ENST00000321521,;PPIP5K2,missense_variant,p.Tyr112Cys,ENST00000509597,;PPIP5K2,missense_variant,p.Tyr838Cys,ENST00000358359,;PPIP5K2,upstream_gene_variant,,ENST00000511022,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000507966,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000511724,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000508935,;	3086	37	48	SUCCESS
CCT5	22948	.	GRCh37	5	10258287	10258287	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	16	84	0	ENST00000280326.4:c.595A>G	p.Met199Val	p.M199V	ENST00000280326	NM_012073.3	199	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS3877.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATGGAG	NONE	.	.	hmmpanther:PTHR11353,Pfam_domain:PF00118,Gene3D:3.30.260.10,TIGRFAM_domain:TIGR02343,Superfamily_domains:SSF54849	.	.	ENSP00000280326	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000280326	Transcript	1	.	ENSG00000150753	1618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.06)	.	TCPE_HUMAN	CCT5	HGNC	Q9HB74_HUMAN,Q9BU08_HUMAN,Q96GI1_HUMAN,B7ZAR1_HUMAN	.	UPI0000001C34	SNV	CCT5,missense_variant,p.Met199Val,ENST00000280326,;CCT5,missense_variant,p.Met106Val,ENST00000506600,;CCT5,missense_variant,p.Met178Val,ENST00000503026,;CCT5,missense_variant,p.Met161Val,ENST00000515676,;CCT5,missense_variant,p.Met144Val,ENST00000515390,;CCT5,3_prime_UTR_variant,,ENST00000512975,;CCT5,3_prime_UTR_variant,,ENST00000511700,;CCT5,3_prime_UTR_variant,,ENST00000503454,;CCT5,non_coding_transcript_exon_variant,,ENST00000423695,;CCT5,non_coding_transcript_exon_variant,,ENST00000514674,;CCT5,downstream_gene_variant,,ENST00000510326,;CCT5,downstream_gene_variant,,ENST00000508451,;CCT5,upstream_gene_variant,,ENST00000511995,;CCT5,upstream_gene_variant,,ENST00000509846,;	1015	84	107	SUCCESS
PJA2	9867	.	GRCh37	5	108714751	108714751	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	9	74	0	ENST00000361189.2:c.437A>G	p.Tyr146Cys	p.Y146C	ENST00000361189	NM_014819.4	146	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4099.1	437	MUTECT|MUSE|VARSCANS	.	GAATATACTCT	NONE	.	.	hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5	.	.	ENSP00000354775	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000361189	Transcript	.	.	ENSG00000198961	17481	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.02)	.	tolerated(0.08)	.	PJA2_HUMAN	PJA2	HGNC	.	.	UPI000013D192	SNV	PJA2,missense_variant,p.Tyr146Cys,ENST00000361189,;PJA2,missense_variant,p.Tyr146Cys,ENST00000361557,;PJA2,downstream_gene_variant,,ENST00000511624,;PJA2,downstream_gene_variant,,ENST00000512822,;	677	74	113	SUCCESS
MAN2A1	4124	.	GRCh37	5	109120501	109120501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	404	64	407	0	ENST00000261483.4:c.1634A>G	p.Asn545Ser	p.N545S	ENST00000261483	NM_002372.2	545	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34209.1	1634	RADIA|MUTECT|MUSE|VARSCANS	.	GATAAATAAAT	NONE	.	.	hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Pfam_domain:PF09261,Gene3D:3bvxA02,SMART_domains:SM00872,Superfamily_domains:SSF88688	.	.	ENSP00000261483	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(1)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Asn545Ser,ENST00000261483,;	2686	407	469	SUCCESS
APC	324	.	GRCh37	5	112175960	112175960	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763578917	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	241	37	191	0	ENST00000257430.4:c.4669A>G	p.Ile1557Val	p.I1557V	ENST00000257430	NM_000038.5	1557	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4107.1	4669	RADIA|MUTECT|MUSE|VARSCANS	.	AAACTATTGAT	CODON|p.I1557fs*2|c.4667_4668insC|6,CODON|p.I1557fs*2|c.4668_4669insA|3,CODON|p.I1557fs*1|c.4669_4670delAT|3,BUFFER|p.T1556fs*3|c.4660_4661insA|55,BUFFER|p.T1556fs*3|c.4662_4663insA|29,BUFFER|p.K1555fs*3|c.4665_4666delAA|9,BUFFER|p.T1556fs*3|c.4665_4666insA|46,BUFFER|p.T1556fs*9|c.4666delA|4,BUFFER|p.T1556fs*3|c.4666_4667insA|108	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	rs763578917,CD041153	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0)	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Ile1557Val,ENST00000257430,;APC,missense_variant,p.Ile1557Val,ENST00000457016,;APC,missense_variant,p.Ile1557Val,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000514164,;	5049	191	278	SUCCESS
DDX46	9879	.	GRCh37	5	134116885	134116885	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	25	84	0	ENST00000354283.4:c.828T>G	p.Asp276Glu	p.D276E	ENST00000354283		276	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS34240.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGATTCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158	.	.	ENSP00000346236	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.54)	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,missense_variant,p.Asp276Glu,ENST00000354283,;DDX46,missense_variant,p.Asp276Glu,ENST00000452510,;DDX46,upstream_gene_variant,,ENST00000509178,;DDX46,missense_variant,p.Asp228Glu,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000513987,;DDX46,non_coding_transcript_exon_variant,,ENST00000505592,;DDX46,downstream_gene_variant,,ENST00000509255,;DDX46,upstream_gene_variant,,ENST00000513592,;	963	84	155	SUCCESS
KDM3B	51780	.	GRCh37	5	137733999	137733999	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	20	123	0	ENST00000314358.5:c.2964A>G	p.Lys988=	p.K988=	ENST00000314358	NM_016604.3	988	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS34242.1	2964	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAATACAT	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,synonymous_variant,p.%3D,ENST00000542866,;KDM3B,synonymous_variant,p.%3D,ENST00000394866,;KDM3B,synonymous_variant,p.%3D,ENST00000314358,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,non_coding_transcript_exon_variant,,ENST00000504095,;	3164	123	158	SUCCESS
DNAH5	1767	.	GRCh37	5	13870897	13870898	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	78	0	ENST00000265104.4:c.3812_3813insT	p.Phe1272LeufsTer7	p.F1272Lfs*7	ENST00000265104	NM_001369.2	1271	gac/gaTc	0	.	.	.	.	.	A	D/DX	protein_coding	YES	CCDS3882.1	3812-3813	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAAGTCAAT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	24/79	.	.	.	.	.	.	.	.	.	24/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	insertion	DNAH5,frameshift_variant,p.Phe1272LeufsTer7,ENST00000265104,;CTB-51A17.1,intron_variant,,ENST00000503244,;	3917-3918	78	121	SUCCESS
AFAP1L1	134265	.	GRCh37	5	148719573	148719573	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	34	63	0	ENST00000296721.4:c.2287T>A	p.Trp763Arg	p.W763R	ENST00000296721	NM_152406.2	763	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS34274.1	2287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATGGGAA	NONE	.	.	hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1	.	.	ENSP00000296721	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000296721	Transcript	.	.	ENSG00000157510	26714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.432)	.	deleterious(0.01)	.	AF1L1_HUMAN	AFAP1L1	HGNC	.	.	UPI00001C1E2F	SNV	AFAP1L1,missense_variant,p.Trp763Arg,ENST00000296721,;AFAP1L1,missense_variant,p.Trp720Arg,ENST00000515000,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000513665,;	2385	63	87	SUCCESS
GEMIN5	25929	.	GRCh37	5	154311736	154311736	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	20	129	0	ENST00000285873.7:c.584A>G	p.Asp195Gly	p.D195G	ENST00000285873	NM_001252156.1	195	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4330.1	584	RADIA|MUTECT|MUSE|VARSCANS	.	CATCATCATGG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000285873	.	4/28	.	.	.	.	.	.	.	.	COSM1208102	4/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.967)	.	tolerated(0.11)	1	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,missense_variant,p.Asp195Gly,ENST00000285873,;GEMIN5,upstream_gene_variant,,ENST00000523355,;	660	129	177	SUCCESS
ITK	3702	.	GRCh37	5	156649918	156649918	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs369289895	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	114	0	ENST00000422843.3:c.541G>C	p.Asp181His	p.D181H	ENST00000422843	NM_005546.3	181	Gac/Cac	0	A:0	.	.	.	.	C	D/H	protein_coding	YES	CCDS4336.1	541	RADIA|MUTECT|MUSE|VARSCANS	.	TATATGACTAC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	A:0.0001	ENSP00000398655	.	6/17	.	.	.	.	.	.	.	.	rs369289895	6/17	PASS	ENST00000422843	Transcript	1	.	ENSG00000113263	6171	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.03)	.	ITK_HUMAN	ITK	HGNC	Q7Z318_HUMAN,E5RFR5_HUMAN	.	UPI000004CADA	SNV	ITK,missense_variant,p.Asp56His,ENST00000521769,;ITK,missense_variant,p.Asp181His,ENST00000422843,;CTB-4E7.1,intron_variant,,ENST00000519375,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,non_coding_transcript_exon_variant,,ENST00000519759,;	693	114	131	SUCCESS
FAM196B	0	.	GRCh37	5	169310508	169310508	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	34	0	ENST00000377365.3:c.395T>C	p.Ile132Thr	p.I132T	ENST00000377365	NM_001129891.1	132	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS47336.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGATGGCA	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000366582	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000377365	Transcript	.	.	ENSG00000204767	37271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.09)	.	F196B_HUMAN	FAM196B	HGNC	.	.	UPI0000480500	SNV	FAM196B,missense_variant,p.Ile132Thr,ENST00000377365,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000256935,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	1777	34	82	SUCCESS
ZNF346	23567	.	GRCh37	5	176449747	176449747	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1450946108	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	16	60	0	ENST00000358149.3:c.8A>G	p.Tyr3Cys	p.Y3C	ENST00000358149	NM_012279.2	3	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4409.1	8	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTATCCCG	NONE	.	.	.	.	.	ENSP00000350869	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000358149	Transcript	.	.	ENSG00000113761	16403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.16)	.	ZN346_HUMAN	ZNF346	HGNC	.	.	UPI00000704A0	SNV	ZNF346,missense_variant,p.Tyr3Cys,ENST00000512315,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000358149,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000503039,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000503425,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000511834,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000506693,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000261948,;UIMC1,upstream_gene_variant,,ENST00000509236,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000508155,;ZNF346,missense_variant,p.Tyr3Cys,ENST00000513587,;ZNF346,upstream_gene_variant,,ENST00000510933,;UIMC1,upstream_gene_variant,,ENST00000515488,;	51	60	151	SUCCESS
PDZD2	23037	.	GRCh37	5	32000249	32000249	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs755416342	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	73	130	1	ENST00000438447.1:c.1126G>C	p.Gly376Arg	p.G376R	ENST00000438447		376	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS34137.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATGGCAGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000402033	.	5/25	.	.	.	.	.	.	.	.	rs755416342	5/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,missense_variant,p.Gly376Arg,ENST00000438447,;PDZD2,missense_variant,p.Gly376Arg,ENST00000282493,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	1514	131	188	SUCCESS
RAI14	26064	.	GRCh37	5	34823676	34823676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs565597265	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	193	57	208	0	ENST00000265109.3:c.1729G>A	p.Glu577Lys	p.E577K	ENST00000265109	NM_015577.2	577	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS54839.1	1738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACGAGGAA	NONE	byCluster	.	hmmpanther:PTHR24129	.	.	ENSP00000427123	.	17/20	.	.	.	.	.	.	.	.	rs565597265	17/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,missense_variant,p.Glu569Lys,ENST00000506376,;RAI14,missense_variant,p.Glu577Lys,ENST00000265109,;RAI14,missense_variant,p.Glu570Lys,ENST00000397449,;RAI14,missense_variant,p.Glu580Lys,ENST00000515799,;RAI14,missense_variant,p.Glu577Lys,ENST00000428746,;RAI14,missense_variant,p.Glu548Lys,ENST00000512629,;RAI14,missense_variant,p.Glu577Lys,ENST00000503673,;RAI14,upstream_gene_variant,,ENST00000513772,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;	2230	208	251	SUCCESS
NUP155	9631	.	GRCh37	5	37292009	37292009	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	312	49	296	0	ENST00000231498.3:c.4169T>G	p.Leu1390Arg	p.L1390R	ENST00000231498	NM_153485.2	1390	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS3921.1	4169	RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAGCCGT	NONE	.	.	hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350	.	.	ENSP00000231498	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000231498	Transcript	1	.	ENSG00000113569	8063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	NU155_HUMAN	NUP155	HGNC	B4DLT2_HUMAN,B3KMK3_HUMAN	.	UPI0000001C7F	SNV	NUP155,missense_variant,p.Leu1326Arg,ENST00000513532,;NUP155,missense_variant,p.Leu1331Arg,ENST00000381843,;NUP155,missense_variant,p.Leu1390Arg,ENST00000231498,;NUP155,non_coding_transcript_exon_variant,,ENST00000502533,;NUP155,non_coding_transcript_exon_variant,,ENST00000508182,;CTD-2124B8.2,upstream_gene_variant,,ENST00000603896,;	4373	296	361	SUCCESS
GHR	2690	.	GRCh37	5	42688998	42688998	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770307280	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	80	0	ENST00000230882.4:c.143C>T	p.Ser48Phe	p.S48F	ENST00000230882	NM_001242406.2	48	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3940.1	143	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTAAGG	NONE	.	.	Pfam_domain:PF09067,hmmpanther:PTHR23036:SF74,hmmpanther:PTHR23036	.	.	ENSP00000230882	.	4/10	.	.	.	.	.	.	.	.	rs770307280	4/10	PASS	ENST00000230882	Transcript	1	.	ENSG00000112964	4263	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	GHR_HUMAN	GHR	HGNC	Q9NRZ8_HUMAN,Q9HCW9_HUMAN,F5H7X2_HUMAN	.	UPI000012B416	SNV	GHR,missense_variant,p.Ser48Phe,ENST00000230882,;GHR,missense_variant,p.Ser26Phe,ENST00000357703,;GHR,intron_variant,,ENST00000537449,;GHR,intron_variant,,ENST00000511135,;	333	80	97	SUCCESS
HCN1	348980	.	GRCh37	5	45262400	45262400	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776567935	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	41	0	ENST00000303230.4:c.2296G>A	p.Glu766Lys	p.E766K	ENST00000303230	NM_021072.3	766	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS3952.1	2296	MUTECT|MUSE|VARSCANS	.	CACTTCATTTT	BUFFER|p.P763P|c.2289G>A|5	.	.	hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217	.	.	ENSP00000307342	.	8/8	.	.	.	.	.	.	.	.	rs776567935,COSM3616781	8/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.052)	.	tolerated_low_confidence(0.5)	0,1	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Glu766Lys,ENST00000303230,;	2354	41	67	SUCCESS
AK9	221264	.	GRCh37	6	109983861	109983861	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs372325726	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	27	162	0	ENST00000424296.2:c.337A>G	p.Ile113Val	p.I113V	ENST00000424296	NM_001145128.2	113	Att/Gtt	0	C:0.0002	.	.	.	.	C	I/V	protein_coding	YES	CCDS55048.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAATATAAC	NONE	.	.	hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,Pfam_domain:PF00406,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	C:0	ENSP00000410186	.	6/41	.	.	.	.	.	.	.	.	rs372325726	6/41	PASS	ENST00000424296	Transcript	.	.	ENSG00000155085	33814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(1)	.	KAD9_HUMAN	AK9	HGNC	E9PPU7_HUMAN,E9PPM3_HUMAN	.	UPI0001A48FC8	SNV	AK9,missense_variant,p.Ile113Val,ENST00000424296,;AK9,missense_variant,p.Ile113Val,ENST00000368948,;AK9,missense_variant,p.Ile113Val,ENST00000285397,;AK9,missense_variant,p.Ile36Val,ENST00000448084,;AK9,missense_variant,p.Ile113Val,ENST00000532976,;AK9,5_prime_UTR_variant,,ENST00000341338,;AK9,upstream_gene_variant,,ENST00000524674,;AK9,upstream_gene_variant,,ENST00000605986,;	414	163	103	SUCCESS
PTPRK	5796	.	GRCh37	6	128540097	128540097	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	21	121	0	ENST00000368215.3:c.838del	p.Val280CysfsTer9	p.V280Cfs*9	ENST00000368215		280	Gtg/tg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS47473.1	838	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGACACACCGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134,PROSITE_profiles:PS50835	.	.	ENSP00000357196	.	6/31	.	.	.	.	.	.	.	.	.	6/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	deletion	PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000532331,;PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000368226,;PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000368215,;PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000368207,;PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000368210,;PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000368227,;PTPRK,frameshift_variant,p.Val280CysfsTer9,ENST00000368213,;PTPRK,frameshift_variant,p.Val97CysfsTer9,ENST00000490332,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,non_coding_transcript_exon_variant,,ENST00000498284,;PTPRK,non_coding_transcript_exon_variant,,ENST00000368205,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,downstream_gene_variant,,ENST00000495748,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	1063	121	86	SUCCESS
ITPR3	3710	.	GRCh37	6	33651106	33651106	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs531158838	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	68	122	0	ENST00000374316.5:c.4720C>T	p.Arg1574Trp	p.R1574W	ENST00000374316		1574	Cgg/Tgg	0	.	T:0.0008	.	T:0	.	T	R/W	protein_coding	YES	CCDS4783.1	4720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGCGGGCC	NONE	by1000G	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	T:0	.	ENSP00000363435	T:0	36/59	.	.	.	.	.	.	.	.	rs531158838	36/59	PASS	ENST00000374316	Transcript	.	T:0.0002	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	T:0	deleterious(0)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Arg1574Trp,ENST00000374316,;ITPR3,missense_variant,p.Arg1574Trp,ENST00000605930,;	5780	122	182	SUCCESS
ITPR3	3710	.	GRCh37	6	33654876	33654876	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	8	76	0	ENST00000374316.5:c.6070G>C	p.Glu2024Gln	p.E2024Q	ENST00000374316		2024	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4783.1	6070	MUTECT|MUSE|VARSCANS	.	CCCAGGAGCTG	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	45/59	.	.	.	.	.	.	.	.	.	45/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.95)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Glu2024Gln,ENST00000374316,;ITPR3,missense_variant,p.Glu2024Gln,ENST00000605930,;	7130	76	93	SUCCESS
TREML4	285852	.	GRCh37	6	41196730	41196730	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	36	58	0	ENST00000341495.2:c.342T>C	p.Ala114=	p.A114=	ENST00000341495	NM_198153.2	114	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS34446.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCTTCCGA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR16423:SF1,hmmpanther:PTHR16423,PROSITE_profiles:PS50835	.	.	ENSP00000342570	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000341495	Transcript	.	.	ENSG00000188056	30807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRML4_HUMAN	TREML4	HGNC	.	.	UPI00001D696F	SNV	TREML4,synonymous_variant,p.%3D,ENST00000448827,;TREML4,synonymous_variant,p.%3D,ENST00000341495,;TREML4,synonymous_variant,p.%3D,ENST00000461240,;	446	58	47	SUCCESS
SUPT3H	8464	.	GRCh37	6	45289589	45289589	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	17	69	0	ENST00000371460.1:c.78A>T	p.Lys26Asn	p.K26N	ENST00000371460	NM_181356.2	26	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34466.1	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGATTTTCC	NONE	.	.	.	.	.	ENSP00000360515	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000371460	Transcript	.	.	ENSG00000196284	11466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious_low_confidence(0)	.	SUPT3_HUMAN	SUPT3H	HGNC	B4E1H0_HUMAN	.	UPI000018CE7C	SNV	SUPT3H,missense_variant,p.Lys26Asn,ENST00000371461,;SUPT3H,missense_variant,p.Lys26Asn,ENST00000371460,;SUPT3H,intron_variant,,ENST00000371459,;SUPT3H,intron_variant,,ENST00000306867,;SUPT3H,intron_variant,,ENST00000459689,;SUPT3H,intron_variant,,ENST00000475057,;	396	69	98	SUCCESS
GPR115	0	.	GRCh37	6	47681896	47681896	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	22	100	0	ENST00000283303.2:c.915C>T	p.Ala305=	p.A305=	ENST00000283303	NM_153838.3	305	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4922.2	915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCCACTT	NONE	.	.	hmmpanther:PTHR12011:SF229,hmmpanther:PTHR12011	.	.	ENSP00000283303	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000283303	Transcript	.	.	ENSG00000153294	19011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP115_HUMAN	GPR115	HGNC	.	.	UPI000046FF2B	SNV	GPR115,synonymous_variant,p.%3D,ENST00000283303,;GPR115,synonymous_variant,p.%3D,ENST00000327753,;GPR115,synonymous_variant,p.%3D,ENST00000371220,;RN7SKP116,upstream_gene_variant,,ENST00000516902,;	1173	100	141	SUCCESS
RIMS1	22999	.	GRCh37	6	73102484	73102484	+	synonymous_variant	Silent	SNP	C	C	A	rs1376609475	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	87	0	ENST00000521978.1:c.4590C>A	p.Gly1530=	p.G1530=	ENST00000521978	NM_014989.5	1530	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS47449.1	4590	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCCGCCA	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,synonymous_variant,p.%3D,ENST00000414192,;RIMS1,synonymous_variant,p.%3D,ENST00000491071,;RIMS1,synonymous_variant,p.%3D,ENST00000517827,;RIMS1,synonymous_variant,p.%3D,ENST00000453976,;RIMS1,synonymous_variant,p.%3D,ENST00000522291,;RIMS1,synonymous_variant,p.%3D,ENST00000538414,;RIMS1,synonymous_variant,p.%3D,ENST00000522211,;RIMS1,synonymous_variant,p.%3D,ENST00000520567,;RIMS1,synonymous_variant,p.%3D,ENST00000518273,;RIMS1,synonymous_variant,p.%3D,ENST00000517960,;RIMS1,synonymous_variant,p.%3D,ENST00000517433,;RIMS1,synonymous_variant,p.%3D,ENST00000523963,;RIMS1,synonymous_variant,p.%3D,ENST00000425662,;RIMS1,synonymous_variant,p.%3D,ENST00000264839,;RIMS1,synonymous_variant,p.%3D,ENST00000401910,;RIMS1,synonymous_variant,p.%3D,ENST00000348717,;RIMS1,synonymous_variant,p.%3D,ENST00000521978,;RIMS1,synonymous_variant,p.%3D,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000431478,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	4590	87	103	SUCCESS
RWDD2A	112611	.	GRCh37	6	83905923	83905923	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	72	120	1	ENST00000369724.4:c.811A>T	p.Lys271Ter	p.K271*	ENST00000369724	NM_033411.3	271	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS4998.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAAGAAG	NONE	.	.	hmmpanther:PTHR15955,hmmpanther:PTHR15955:SF2,Pfam_domain:PF06544,PIRSF_domain:PIRSF038021	.	.	ENSP00000358739	.	3/3	.	.	.	.	.	.	.	.	COSM1634952	3/3	PASS	ENST00000369724	Transcript	.	.	ENSG00000013392	21385	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RWD2A_HUMAN	RWDD2A	HGNC	.	.	UPI0000139BF2	SNV	RWDD2A,stop_gained,p.Lys217Ter,ENST00000539997,;RWDD2A,stop_gained,p.Lys271Ter,ENST00000369724,;PGM3,upstream_gene_variant,,ENST00000503094,;PGM3,upstream_gene_variant,,ENST00000512866,;PGM3,upstream_gene_variant,,ENST00000513973,;PGM3,upstream_gene_variant,,ENST00000283977,;PGM3,upstream_gene_variant,,ENST00000510258,;PGM3,upstream_gene_variant,,ENST00000508748,;PGM3,upstream_gene_variant,,ENST00000506587,;PGM3,upstream_gene_variant,,ENST00000507554,;PGM3,upstream_gene_variant,,ENST00000515333,;PGM3,upstream_gene_variant,,ENST00000505470,;	1016	121	170	SUCCESS
EXOC4	60412	.	GRCh37	7	132990717	132990720	+	missense_variant	Missense_Mutation	ONP	GAAC	GAAC	TTTT	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	GAAC	GAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	92	0	ENST00000253861.4:c.558_561delinsTTTT	p.Met186_Asn187delinsIlePhe	p.M186_N187delinsIF	ENST00000253861	NM_021807.3	186	atGAAC/atTTTT	0	.	.	.	.	.	TTTTT	MN/IF	protein_coding	YES	CCDS5829.1	557-561	PINDEL|VARSCANS*|SOMATICSNIPER*	.	GAAGATGAACCTTCA	NONE	.	.	hmmpanther:PTHR14146	.	.	ENSP00000253861	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000253861	Transcript	.	.	ENSG00000131558	30389	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXOC4_HUMAN	EXOC4	HGNC	B7Z4J9_HUMAN,B7Z321_HUMAN	.	UPI0000135758	substitution	EXOC4,missense_variant,p.MetAsn85IlePhe,ENST00000539845,;EXOC4,missense_variant,p.MetAsn186IlePhe,ENST00000253861,;EXOC4,missense_variant,p.MetAsn186IlePhe,ENST00000393161,;EXOC4,downstream_gene_variant,,ENST00000492326,;EXOC4,non_coding_transcript_exon_variant,,ENST00000486013,;EXOC4,non_coding_transcript_exon_variant,,ENST00000462055,;	586-590	92	82	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146829531	146829531	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	113	0	ENST00000361727.3:c.1278C>A	p.Leu426=	p.L426=	ENST00000361727	NM_014141.5	426	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5889.1	1278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTCACTGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000354778	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,synonymous_variant,p.%3D,ENST00000361727,;	1794	113	97	SUCCESS
CNTNAP2	26047	.	GRCh37	7	147259228	147259228	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	74	0	ENST00000361727.3:c.1778-2A>G		p.X593_splice	ENST00000361727	NM_014141.5	593		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5889.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTAGCTAT	NONE	.	.	.	.	.	ENSP00000354778	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	HIGH	11/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,splice_acceptor_variant,,ENST00000361727,;	.	74	73	SUCCESS
MICALL2	79778	.	GRCh37	7	1479677	1479694	+	inframe_deletion	In_Frame_Del	DEL	GCCCTCGGCTCTGCCAGG	GCCCTCGGCTCTGCCAGG	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	GCCCTCGGCTCTGCCAGG	GCCCTCGGCTCTGCCAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	92	30	122	0	ENST00000297508.7:c.1833_1850del	p.Leu612_Ala617del	p.L612_A617del	ENST00000297508	NM_182924.3	611	gcCCTGGCAGAGCCGAGGGCg/gcg	0	.	.	.	.	.	-	ALAEPRA/A	protein_coding	YES	CCDS5324.1	1833-1850	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCCCGCCCTCGGCTCTGCCAGGGCCCG	NONE	.	.	hmmpanther:PTHR25069:SF96,hmmpanther:PTHR25069	.	.	ENSP00000297508	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000297508	Transcript	.	.	ENSG00000164877	29672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MILK2_HUMAN	MICALL2	HGNC	.	.	UPI00000742E0	deletion	MICALL2,inframe_deletion,p.Leu612_Ala617del,ENST00000297508,;MICALL2,inframe_deletion,p.Leu400_Ala405del,ENST00000405088,;MICALL2,upstream_gene_variant,,ENST00000471899,;MICALL2,inframe_deletion,p.Leu570_Ala575del,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000467394,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000487156,;MICALL2,upstream_gene_variant,,ENST00000487187,;MICALL2,upstream_gene_variant,,ENST00000460198,;MICALL2,upstream_gene_variant,,ENST00000496184,;MICALL2,upstream_gene_variant,,ENST00000470807,;MICALL2,upstream_gene_variant,,ENST00000479007,;MICALL2,upstream_gene_variant,,ENST00000493998,;MICALL2,upstream_gene_variant,,ENST00000467783,;	2009-2026	122	122	SUCCESS
ATP6V0E2-AS1	401431	.	GRCh37	7	149570921	149570922	+	non_coding_transcript_exon_variant	RNA	DEL	TC	TC	-	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	29	0	ENST00000461019.1:n.13_14del		p.*5*	ENST00000461019				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47742.1	.	INDELOCATOR*|PINDEL	.	GGCATTTCTCTCT	NONE	.	.	.	.	.	ENSP00000411672	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000421974	Transcript	.	.	ENSG00000171130	21723	5	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ATP6V0E2	HGNC	E9PAS2_HUMAN	.	UPI00001A844C	deletion	ATP6V0E2,5_prime_UTR_variant,,ENST00000456496,;ATP6V0E2,5_prime_UTR_variant,,ENST00000421974,;ATP6V0E2,upstream_gene_variant,,ENST00000479613,;ATP6V0E2,upstream_gene_variant,,ENST00000425642,;ATP6V0E2,upstream_gene_variant,,ENST00000464662,;ATP6V0E2,upstream_gene_variant,,ENST00000606024,;ATP6V0E2-AS1,non_coding_transcript_exon_variant,,ENST00000461019,;ATP6V0E2-AS1,non_coding_transcript_exon_variant,,ENST00000488315,;ATP6V0E2-AS1,intron_variant,,ENST00000464939,;ATP6V0E2,upstream_gene_variant,,ENST00000495408,;ATP6V0E2,upstream_gene_variant,,ENST00000490092,;ATP6V0E2,upstream_gene_variant,,ENST00000483478,;ATP6V0E2,upstream_gene_variant,,ENST00000471877,;ATP6V0E2,upstream_gene_variant,,ENST00000464683,;	865-866	29	50	SUCCESS
KMT2C	58508	.	GRCh37	7	151842365	151842365	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	65	0	ENST00000262189.6:c.14047G>C	p.Ala4683Pro	p.A4683P	ENST00000262189	NM_170606.2	4683	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS5931.1	14047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCCTCAA	NONE	.	.	PROSITE_profiles:PS51543,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305,Pfam_domain:PF05965,SMART_domains:SM00542	.	.	ENSP00000262189	.	54/59	.	.	.	.	.	.	.	.	.	54/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Ala4740Pro,ENST00000355193,;KMT2C,missense_variant,p.Ala1300Pro,ENST00000424877,;KMT2C,missense_variant,p.Ala2244Pro,ENST00000360104,;KMT2C,missense_variant,p.Ala4683Pro,ENST00000262189,;KMT2C,upstream_gene_variant,,ENST00000485655,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	14266	65	52	SUCCESS
EGFR	1956	.	GRCh37	7	55242460	55242460	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1554348865	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	11	72	0	ENST00000275493.2:c.2230A>G	p.Ile744Val	p.I744V	ENST00000275493	NM_005228.3	744	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5514.1	2230	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTATCAAG	BUFFER|p.P741L|c.2222C>T|4,BUFFER|p.V742A|c.2225T>C|4,BUFFER|p.A743T|c.2227G>A|3,BUFFER|p.K745_E746insIPVAIK|c.2231_2232ins18|6,BUFFER|p.K745_E749delKELRE|c.2233_2247del15|6,BUFFER|p.K745_E746insIPVAIK|c.2232_2233ins18|3,BUFFER|p.K745_A750>T|c.2234_2248del15|4,BUFFER|p.E746_A750delELREA|c.2235_2249del15|976,BUFFER|p.E746_E749delELRE|c.2235_2246del12|9,BUFFER|p.K745_E746insIPVAIK|c.2234_2235ins18|5,BUFFER|p.E746_T751>I|c.2235_2252>AAT|3,BUFFER|p.E746_A750>IP|c.2235_2248>AATTC|3,BUFFER|p.E746_T751delELREAT|c.2236_2253del18|5,BUFFER|p.E746_A750delELREA|c.2236_2250del15|457,BUFFER|p.E746_T751>V|c.2237_2252>T|3,BUFFER|p.E746_T751>VA|c.2237_2253>TTGCT|7,BUFFER|p.E746_S752>A|c.2237_2254del18|6,BUFFER|p.K745_E746insVPVAIK|c.2236_2237ins18|4,BUFFER|p.E746_T751>A|c.2237_2251del15|24,BUFFER|p.E746_T751>V|c.2237_2253>TC|3,BUFFER|p.E746_S752>V|c.2237_2256>TT|5,BUFFER|p.E746_S752>V|c.2237_2255>T|58,BUFFER|p.E746K|c.2236G>A|3,BUFFER|p.E746_S752>D|c.2238_2255del18|5,BUFFER|p.L747_T751delLREAT|c.2238_2252del15|7,BUFFER|p.L747_A750>P|c.2238_2248>GC|5,BUFFER|p.L747_S752delLREATS|c.2239_2256del18|35,BUFFER|p.L747_E749delLRE|c.2239_2247delTTAAGAGAA|16,BUFFER|p.L747_T751>P|c.2239_2251>C|26,BUFFER|p.L747_P753>Q|c.2239_2258>CA|7,BUFFER|p.L747_S752>Q|c.2239_2256>CAA|3,BUFFER|p.L747_A750>P|c.2239_2248TTAAGAGAAG>C|91,BUFFER|p.L747_P753>S|c.2239_2257>T|3,BUFFER|p.L747P|c.2239_2240TT>CC|5,BUFFER|p.L747_T751delLREAT|c.2239_2253del15|25,BUFFER|p.L747_P753>S|c.2240_2257del18|150,BUFFER|p.L747_T751>S|c.2240_2251del12|7,BUFFER|p.L747_T751delLREAT|c.2240_2254del15|53,BUFFER|p.L747S|c.2240T>C|13	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00107,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000275493	.	19/28	.	.	.	.	.	.	.	.	COSM28512	19/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.438)	.	deleterious(0.03)	1	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,missense_variant,p.Ile691Val,ENST00000454757,;EGFR,missense_variant,p.Ile744Val,ENST00000275493,;EGFR,missense_variant,p.Ile699Val,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	2407	72	91	SUCCESS
SLC25A40	55972	.	GRCh37	7	87477196	87477196	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	27	140	0	ENST00000341119.5:c.429A>G	p.Ile143Met	p.I143M	ENST00000341119	NM_018843.3	143	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS5610.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGTATGCA	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF225,hmmpanther:PTHR24089,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000344831	.	7/12	.	.	.	.	.	.	.	.	COSM747716	7/12	PASS	ENST00000341119	Transcript	.	.	ENSG00000075303	29680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0.01)	1	S2540_HUMAN	SLC25A40	HGNC	.	.	UPI0000071FF6	SNV	SLC25A40,missense_variant,p.Ile143Met,ENST00000341119,;SLC25A40,3_prime_UTR_variant,,ENST00000429674,;SLC25A40,upstream_gene_variant,,ENST00000446236,;	776	140	147	SUCCESS
TRRAP	8295	.	GRCh37	7	98513492	98513492	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	96	0	ENST00000359863.4:c.2346C>A	p.Leu782=	p.L782=	ENST00000359863	NM_001244580.1	782	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59066.1	2346	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Superfamily_domains:SSF48371	.	.	ENSP00000352925	.	19/72	.	.	.	.	.	.	.	.	.	19/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,synonymous_variant,p.%3D,ENST00000355540,;TRRAP,synonymous_variant,p.%3D,ENST00000446306,;TRRAP,synonymous_variant,p.%3D,ENST00000456197,;TRRAP,synonymous_variant,p.%3D,ENST00000359863,;	2555	96	71	SUCCESS
VPS13B	157680	.	GRCh37	8	100115280	100115280	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	21	140	0	ENST00000358544.2:c.512T>A	p.Val171Asp	p.V171D	ENST00000358544	NM_017890.4	171	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS6280.1	512	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGTCAATA	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	5/62	.	.	.	.	.	.	.	.	.	5/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.804)	.	deleterious(0)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Val171Asp,ENST00000441350,;VPS13B,missense_variant,p.Val171Asp,ENST00000355155,;VPS13B,missense_variant,p.Val171Asp,ENST00000395996,;VPS13B,missense_variant,p.Val171Asp,ENST00000358544,;VPS13B,missense_variant,p.Val171Asp,ENST00000357162,;VPS13B,upstream_gene_variant,,ENST00000524330,;VPS13B,missense_variant,p.Val171Asp,ENST00000496144,;	623	140	151	SUCCESS
NACAP1	0	.	GRCh37	8	102381133	102381133	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	19	14	0	ENST00000419462.1:n.545A>T		p.*182*	ENST00000419462				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCACAAAA	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000419462	Transcript	.	.	ENSG00000228224	24688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NACAP1	HGNC	.	.	.	SNV	NACAP1,non_coding_transcript_exon_variant,,ENST00000419462,;DUXAP2,upstream_gene_variant,,ENST00000519198,;NACAP1,upstream_gene_variant,,ENST00000519039,;	545	14	28	SUCCESS
MRPL13	28998	.	GRCh37	8	121455467	121455467	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145547223	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	108	0	ENST00000306185.3:c.109A>G	p.Ile37Val	p.I37V	ENST00000306185	NM_014078.5	37	Ata/Gta	0	C:0	.	.	.	.	C	I/V	protein_coding	YES	CCDS6332.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTATAGATG	NONE	byCluster	.	hmmpanther:PTHR11545:SF6,hmmpanther:PTHR11545,Pfam_domain:PF00572,TIGRFAM_domain:TIGR01066,Gene3D:3.90.1180.10,PIRSF_domain:PIRSF002181,Superfamily_domains:SSF52161	.	C:0.0001	ENSP00000306548	.	2/7	.	.	.	.	.	.	.	.	rs145547223	2/7	PASS	ENST00000306185	Transcript	.	.	ENSG00000172172	14278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.45)	.	RM13_HUMAN	MRPL13	HGNC	H0YAX3_HUMAN,E5RJI7_HUMAN	.	UPI00001342CD	SNV	MRPL13,missense_variant,p.Ile37Val,ENST00000306185,;MRPL13,missense_variant,p.Ile13Val,ENST00000518918,;MTBP,upstream_gene_variant,,ENST00000305949,;MRPL13,missense_variant,p.Ile37Val,ENST00000518696,;MRPL13,non_coding_transcript_exon_variant,,ENST00000520677,;MTBP,upstream_gene_variant,,ENST00000523373,;MTBP,upstream_gene_variant,,ENST00000522308,;MTBP,upstream_gene_variant,,ENST00000456899,;	401	108	122	SUCCESS
GLI4	2738	.	GRCh37	8	144358389	144358389	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	22	100	0	ENST00000340042.1:c.546G>A	p.Pro182=	p.P182=	ENST00000340042	NM_138465.3	182	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6398.1	546	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGCACAG	BUFFER|p.A180T|c.538G>A|3	.	.	hmmpanther:PTHR24377:SF122,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000345024	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340042	Transcript	.	.	ENSG00000250571	4320	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLI4_HUMAN	GLI4	HGNC	.	.	UPI0000070432	SNV	GLI4,synonymous_variant,p.%3D,ENST00000340042,;GLI4,synonymous_variant,p.%3D,ENST00000523522,;GLI4,3_prime_UTR_variant,,ENST00000517530,;ZFP41,3_prime_UTR_variant,,ENST00000522452,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000520021,;RP13-582O9.5,downstream_gene_variant,,ENST00000519852,;RP13-582O9.5,downstream_gene_variant,,ENST00000523031,;RP13-582O9.5,downstream_gene_variant,,ENST00000524335,;RP13-582O9.5,downstream_gene_variant,,ENST00000518073,;RP13-582O9.5,downstream_gene_variant,,ENST00000517411,;RP13-582O9.5,downstream_gene_variant,,ENST00000521207,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522033,;	631	100	146	SUCCESS
XPO7	23039	.	GRCh37	8	21829398	21829398	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	25	0	ENST00000252512.9:c.438A>G	p.Glu146=	p.E146=	ENST00000252512	NM_015024.4	146	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS47818.1	438	MUTECT|MUSE|VARSCANS	.	GTTGAATACTG	NONE	.	.	hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7,Superfamily_domains:SSF48371	.	.	ENSP00000252512	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000252512	Transcript	.	.	ENSG00000130227	14108	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XPO7_HUMAN	XPO7	HGNC	E5RIW1_HUMAN,B4DSP8_HUMAN	.	UPI0000134559	SNV	XPO7,synonymous_variant,p.%3D,ENST00000252512,;XPO7,synonymous_variant,p.%3D,ENST00000434536,;XPO7,synonymous_variant,p.%3D,ENST00000433566,;XPO7,synonymous_variant,p.%3D,ENST00000521303,;XPO7,non_coding_transcript_exon_variant,,ENST00000518017,;XPO7,downstream_gene_variant,,ENST00000520754,;XPO7,downstream_gene_variant,,ENST00000519769,;	538	25	43	SUCCESS
GNRH1	2796	.	GRCh37	8	25276942	25276942	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs185185508	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	11	74	0	ENST00000276414.4:c.272A>C	p.Lys91Thr	p.K91T	ENST00000276414	NM_000825.3	91	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS43725.1	272	RADIA|MUTECT|MUSE	.	AAATCTTCTTC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10522,hmmpanther:PTHR10522:SF0	.	.	ENSP00000276414	.	3/3	.	.	.	.	.	.	.	.	rs185185508	3/3	PASS	ENST00000276414	Transcript	1	.	ENSG00000147437	4419	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.834)	.	deleterious(0)	.	GON1_HUMAN	GNRH1	HGNC	.	.	UPI000012B8EB	SNV	GNRH1,missense_variant,p.Lys91Thr,ENST00000276414,;GNRH1,missense_variant,p.Lys91Thr,ENST00000421054,;DOCK5,downstream_gene_variant,,ENST00000276440,;DOCK5,downstream_gene_variant,,ENST00000479547,;	1596	74	82	SUCCESS
GNRH1	2796	.	GRCh37	8	25276963	25276963	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	72	0	ENST00000276414.4:c.251A>C	p.Glu84Ala	p.E84A	ENST00000276414	NM_000825.3	84	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS43725.1	251	RADIA|MUTECT|MUSE	.	CCTCTTCAATC	NONE	.	.	hmmpanther:PTHR10522,hmmpanther:PTHR10522:SF0,Prints_domain:PR01541	.	.	ENSP00000276414	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000276414	Transcript	1	.	ENSG00000147437	4419	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.713)	.	deleterious(0)	.	GON1_HUMAN	GNRH1	HGNC	.	.	UPI000012B8EB	SNV	GNRH1,missense_variant,p.Glu84Ala,ENST00000276414,;GNRH1,missense_variant,p.Glu84Ala,ENST00000421054,;DOCK5,downstream_gene_variant,,ENST00000276440,;DOCK5,downstream_gene_variant,,ENST00000479547,;	1575	72	87	SUCCESS
SLC20A2	6575	.	GRCh37	8	42297137	42297137	+	synonymous_variant	Silent	SNP	T	T	C	rs1243792842	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	56	0	ENST00000342228.3:c.765A>G	p.Val255=	p.V255=	ENST00000342228	NM_006749.4	255	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS6132.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATACTCG	NONE	.	.	hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF15,Pfam_domain:PF01384	.	.	ENSP00000340465	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000342228	Transcript	1	.	ENSG00000168575	10947	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S20A2_HUMAN	SLC20A2	HGNC	E5RJW9_HUMAN,E5RIX1_HUMAN,E5RGJ6_HUMAN,E5RGG8_HUMAN	.	UPI000006DC58	SNV	SLC20A2,synonymous_variant,p.%3D,ENST00000342228,;SLC20A2,synonymous_variant,p.%3D,ENST00000520262,;SLC20A2,synonymous_variant,p.%3D,ENST00000520179,;SLC20A2,non_coding_transcript_exon_variant,,ENST00000518660,;SLC20A2,non_coding_transcript_exon_variant,,ENST00000522401,;	1135	56	100	SUCCESS
RB1CC1	9821	.	GRCh37	8	53540718	53540718	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	51	98	0	ENST00000025008.5:c.4510G>T	p.Gly1504Ter	p.G1504*	ENST00000025008	NM_014781.4	1504	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS34892.1	4510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCCACCT	NONE	.	.	hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222,Pfam_domain:PF10377	.	.	ENSP00000025008	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,stop_gained,p.Gly1504Ter,ENST00000025008,;RB1CC1,stop_gained,p.Gly1504Ter,ENST00000539297,;RB1CC1,stop_gained,p.Gly1504Ter,ENST00000435644,;RB1CC1,stop_gained,p.Gly47Ter,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,non_coding_transcript_exon_variant,,ENST00000522957,;	5034	98	100	SUCCESS
RB1CC1	9821	.	GRCh37	8	53540719	53540719	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	51	97	0	ENST00000025008.5:c.4509G>T	p.Val1503=	p.V1503=	ENST00000025008	NM_014781.4	1503	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34892.1	4509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCACCTG	NONE	.	.	hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222,Pfam_domain:PF10377	.	.	ENSP00000025008	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,synonymous_variant,p.%3D,ENST00000025008,;RB1CC1,synonymous_variant,p.%3D,ENST00000539297,;RB1CC1,synonymous_variant,p.%3D,ENST00000435644,;RB1CC1,synonymous_variant,p.%3D,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,non_coding_transcript_exon_variant,,ENST00000522957,;	5033	97	99	SUCCESS
SLC26A7	115111	.	GRCh37	8	92330492	92330492	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	73	0	ENST00000276609.3:c.526G>T	p.Glu176Ter	p.E176*	ENST00000276609	NM_052832.2	176	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS6255.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGAGCCT	NONE	.	.	hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000309504	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,stop_gained,p.Glu44Ter,ENST00000520818,;SLC26A7,stop_gained,p.Glu176Ter,ENST00000276609,;SLC26A7,stop_gained,p.Glu176Ter,ENST00000309536,;SLC26A7,stop_gained,p.Glu176Ter,ENST00000522862,;SLC26A7,stop_gained,p.Glu176Ter,ENST00000523719,;SLC26A7,stop_gained,p.Glu176Ter,ENST00000522181,;	746	73	71	SUCCESS
FOXE1	2304	.	GRCh37	9	100616097	100616097	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	76	0	ENST00000375123.3:c.-100C>T		p.*34*	ENST00000375123	NM_004473.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35078.1	.	MUTECT|MUSE	.	GCTCTCCGCAG	NONE	.	.	.	.	.	ENSP00000364265	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375123	Transcript	.	.	ENSG00000178919	3806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXE1_HUMAN	FOXE1	HGNC	.	.	UPI0000167B2F	SNV	FOXE1,5_prime_UTR_variant,,ENST00000375123,;	562	76	47	SUCCESS
RNF20	56254	.	GRCh37	9	104314807	104314807	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750558519	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	17	114	0	ENST00000389120.3:c.1673A>G	p.Asn558Ser	p.N558S	ENST00000389120	NM_019592.6	558	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS35084.1	1673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAATGAAA	NONE	byFrequency	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000373772	.	13/20	.	.	.	.	.	.	.	.	rs750558519	13/20	PASS	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.79)	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,missense_variant,p.Asn558Ser,ENST00000389120,;AL591377.1,upstream_gene_variant,,ENST00000584534,;	1763	114	102	SUCCESS
EPB41L4B	54566	.	GRCh37	9	112029803	112029803	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	62	0	ENST00000374566.3:c.483A>G	p.Arg161=	p.R161=	ENST00000374566	NM_019114.3	161	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS43859.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACTCGAAA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280:SF18,hmmpanther:PTHR23280,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000363694	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000374566	Transcript	.	.	ENSG00000095203	19818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41LB_HUMAN	EPB41L4B	HGNC	.	.	UPI0000458994	SNV	EPB41L4B,synonymous_variant,p.%3D,ENST00000374566,;EPB41L4B,synonymous_variant,p.%3D,ENST00000374557,;AL358815.1,downstream_gene_variant,,ENST00000578641,;	1001	62	47	SUCCESS
FAM69B	0	.	GRCh37	9	139617509	139617509	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	77	0	ENST00000371692.4:c.579A>G	p.Glu193=	p.E193=	ENST00000371692	NM_152421.3	193	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS7004.1	579	MUTECT|MUSE	.	GCGGAAGCCAA	NONE	.	.	hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF3	.	.	ENSP00000360757	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371692	Transcript	.	.	ENSG00000165716	28290	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA69B_HUMAN	FAM69B	HGNC	.	.	UPI000013E4F3	SNV	FAM69B,synonymous_variant,p.%3D,ENST00000371691,;FAM69B,synonymous_variant,p.%3D,ENST00000371692,;SNHG7,downstream_gene_variant,,ENST00000391185,;SNHG7,downstream_gene_variant,,ENST00000362567,;SNHG7,non_coding_transcript_exon_variant,,ENST00000414282,;SNHG7,downstream_gene_variant,,ENST00000416970,;SNHG7,downstream_gene_variant,,ENST00000447221,;SNHG7,downstream_gene_variant,,ENST00000436596,;	675	77	90	SUCCESS
KIAA0020	0	.	GRCh37	9	2837227	2837227	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs552128111	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	95	0	ENST00000397885.2:c.257A>G	p.Asn86Ser	p.N86S	ENST00000397885	NM_014878.4	86	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6448.2	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATTTGCC	NONE	byCluster	.	hmmpanther:PTHR13389	.	.	ENSP00000380982	.	3/18	.	.	.	.	.	.	.	.	rs552128111	3/18	PASS	ENST00000397885	Transcript	.	.	ENSG00000080608	29676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.44)	.	K0020_HUMAN	KIAA0020	HGNC	S4R3K8_HUMAN	.	UPI000013D67E	SNV	KIAA0020,missense_variant,p.Asn86Ser,ENST00000397885,;	464	95	56	SUCCESS
RUSC2	9853	.	GRCh37	9	35557957	35557957	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	58	0	ENST00000361226.3:c.3030T>C	p.His1010=	p.H1010=	ENST00000361226	NM_014806.2	1010	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS35008.1	3030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATTTTGG	NONE	.	.	hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14,Superfamily_domains:0052343	.	.	ENSP00000393922	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000455600	Transcript	.	.	ENSG00000198853	23625	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC2_HUMAN	RUSC2	HGNC	.	.	UPI00001C1EB0	SNV	RUSC2,synonymous_variant,p.%3D,ENST00000361226,;RUSC2,synonymous_variant,p.%3D,ENST00000455600,;FAM166B,downstream_gene_variant,,ENST00000399742,;FAM166B,downstream_gene_variant,,ENST00000478246,;FAM166B,downstream_gene_variant,,ENST00000480287,;FAM166B,downstream_gene_variant,,ENST00000492890,;FAM166B,downstream_gene_variant,,ENST00000447837,;	3599	58	54	SUCCESS
GLRA2	2742	.	GRCh37	X	14550455	14550455	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	78	225	0	ENST00000218075.4:c.163A>T	p.Thr55Ser	p.T55S	ENST00000218075	NM_002063.3	55	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS14160.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGACATCA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF28,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000218075	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000218075	Transcript	.	.	ENSG00000101958	4327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious_low_confidence(0.05)	.	GLRA2_HUMAN	GLRA2	HGNC	.	.	UPI000012BA64	SNV	GLRA2,missense_variant,p.Thr55Ser,ENST00000355020,;GLRA2,missense_variant,p.Thr39Ser,ENST00000415367,;GLRA2,missense_variant,p.Thr55Ser,ENST00000218075,;GLRA2,5_prime_UTR_variant,,ENST00000443437,;	693	225	161	SUCCESS
FMR1	2332	.	GRCh37	X	147011692	147011692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	83	0	ENST00000370475.4:c.559A>T	p.Met187Leu	p.M187L	ENST00000370475	NM_002024.5	187	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS14682.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACATGCAC	BUFFER|p.R190Q|c.569G>A|3,BUFFER|p.R190Q|c.569G>A|3	.	.	hmmpanther:PTHR10603:SF4,hmmpanther:PTHR10603	.	.	ENSP00000359506	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000370475	Transcript	.	.	ENSG00000102081	3775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0.03)	.	FMR1_HUMAN	FMR1	HGNC	.	.	UPI000012AACA	SNV	FMR1,missense_variant,p.Met187Leu,ENST00000218200,;FMR1,missense_variant,p.Met187Leu,ENST00000370475,;FMR1,missense_variant,p.Met187Leu,ENST00000370471,;FMR1,missense_variant,p.Met187Leu,ENST00000334557,;FMR1,missense_variant,p.Met187Leu,ENST00000370470,;FMR1,missense_variant,p.Met187Leu,ENST00000370477,;FMR1,missense_variant,p.Met187Leu,ENST00000439526,;FMR1,upstream_gene_variant,,ENST00000440235,;FMR1,non_coding_transcript_exon_variant,,ENST00000495717,;FMR1,upstream_gene_variant,,ENST00000475038,;	687	83	49	SUCCESS
AKAP17A	8227	.	GRCh37	X	1718529	1718529	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	80	0	ENST00000313871.3:c.1152+204C>T		p.*384*	ENST00000313871	NM_005088.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14116.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACGGTTT	NONE	.	.	.	.	.	ENSP00000324827	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313871	Transcript	.	.	ENSG00000197976	18783	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AK17A_HUMAN	AKAP17A	HGNC	.	.	UPI00001AF072	SNV	AKAP17A,3_prime_UTR_variant,,ENST00000381261,;AKAP17A,intron_variant,,ENST00000313871,;AKAP17A,intron_variant,,ENST00000474361,;	.	80	69	SUCCESS
MED12	9968	.	GRCh37	X	70352248	70352248	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	72	0	ENST00000374080.3:c.4275A>G	p.Val1425=	p.V1425=	ENST00000374080		1425	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS43970.1	4275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTATGGCT	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4	.	.	ENSP00000363193	.	31/45	.	.	.	.	.	.	.	.	.	31/45	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	SNV	MED12,synonymous_variant,p.%3D,ENST00000374102,;MED12,synonymous_variant,p.%3D,ENST00000333646,;MED12,synonymous_variant,p.%3D,ENST00000374080,;MED12,upstream_gene_variant,,ENST00000444034,;MED12,downstream_gene_variant,,ENST00000462984,;MED12,downstream_gene_variant,,ENST00000489199,;MED12,downstream_gene_variant,,ENST00000460771,;	4307	72	73	SUCCESS
ATRX	546	.	GRCh37	X	76776919	76776919	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	56	0	ENST00000373344.5:c.7033G>A	p.Val2345Met	p.V2345M	ENST00000373344	NM_000489.3	2345	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14434.1	7033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACTGCTG	NONE	.	.	hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	.	ENSP00000362441	.	33/35	.	.	.	.	.	.	.	.	COSM357685,COSM357686	33/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.254)	.	.	1,1	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,missense_variant,p.Val2307Met,ENST00000395603,;ATRX,missense_variant,p.Val2345Met,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;	7248	56	19	SUCCESS
PRDX3	10935	.	GRCh37	10	120938299	120938299	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	56	108	0	ENST00000298510.2:c.4G>C	p.Ala2Pro	p.A2P	ENST00000298510	NM_006793.3	2	Gcg/Ccg	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7611.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGCCATCT	NONE	.	.	.	.	.	ENSP00000298510	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000298510	Transcript	.	.	ENSG00000165672	9354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	deleterious_low_confidence(0)	.	PRDX3_HUMAN	PRDX3	HGNC	Q14579_HUMAN	.	UPI0000000C81	SNV	PRDX3,missense_variant,p.Ala2Pro,ENST00000356951,;PRDX3,missense_variant,p.Ala2Pro,ENST00000298510,;PRDX3,upstream_gene_variant,,ENST00000463322,;	47	108	150	SUCCESS
GPR123	0	.	GRCh37	10	134941950	134941950	+	synonymous_variant	Silent	SNP	G	G	A	rs762897266	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	66	0	ENST00000392607.3:c.618G>A	p.Gly206=	p.G206=	ENST00000392607	NM_001083909.1	206	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41580.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGCGCAG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261,Pfam_domain:PF00002	.	.	ENSP00000376384	.	7/7	.	.	.	.	.	.	.	.	rs762897266	7/7	PASS	ENST00000392607	Transcript	.	.	ENSG00000197177	13838	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP123_HUMAN	GPR123	HGNC	.	.	UPI00003D41AD	SNV	GPR123,synonymous_variant,p.%3D,ENST00000607359,;GPR123,synonymous_variant,p.%3D,ENST00000392606,;GPR123,synonymous_variant,p.%3D,ENST00000392607,;	1054	66	104	SUCCESS
GJD4	219770	.	GRCh37	10	35897262	35897262	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	46	0	ENST00000321660.1:c.821G>C	p.Gly274Ala	p.G274A	ENST00000321660	NM_153368.2	274	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS7191.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11984:SF3,hmmpanther:PTHR11984	.	.	ENSP00000315070	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321660	Transcript	.	.	ENSG00000177291	23296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated(0.3)	.	CXD4_HUMAN	GJD4	HGNC	.	.	UPI000007118B	SNV	GJD4,missense_variant,p.Gly274Ala,ENST00000321660,;RP11-425A6.5,upstream_gene_variant,,ENST00000609313,;	979	46	52	SUCCESS
A1CF	29974	.	GRCh37	10	52573658	52573658	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	49	110	0	ENST00000373993.1:c.1306C>T	p.Pro436Ser	p.P436S	ENST00000373993		436	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7243.1	1306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGGATTCA	NONE	.	.	TIGRFAM_domain:TIGR01648	.	.	ENSP00000363107	.	10/13	.	.	.	.	.	.	.	.	COSM685037,COSM3438592,COSM685036	10/13	PASS	ENST00000373995	Transcript	.	.	ENSG00000148584	24086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.138)	.	tolerated(0.09)	1,1,1	A1CF_HUMAN	A1CF	HGNC	.	.	UPI000013DB32	SNV	A1CF,missense_variant,p.Pro436Ser,ENST00000373993,;A1CF,missense_variant,p.Pro436Ser,ENST00000282641,;A1CF,missense_variant,p.Pro381Ser,ENST00000395495,;A1CF,missense_variant,p.Pro428Ser,ENST00000374001,;A1CF,missense_variant,p.Pro436Ser,ENST00000373995,;A1CF,missense_variant,p.Pro428Ser,ENST00000373997,;A1CF,missense_variant,p.Pro429Ser,ENST00000395489,;A1CF,non_coding_transcript_exon_variant,,ENST00000493415,;ASAH2B,intron_variant,,ENST00000483649,;	1565	110	144	SUCCESS
PRKCQ	5588	.	GRCh37	10	6521122	6521122	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	59	115	0	ENST00000263125.5:c.1185C>A	p.Phe395Leu	p.F395L	ENST00000263125	NM_006257.3	395	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS7079.1	1185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGAAGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000551,SMART_domains:SM00220,PIRSF_domain:PIRSF501105,Superfamily_domains:SSF56112	.	.	ENSP00000263125	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.83)	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,missense_variant,p.Phe395Leu,ENST00000397176,;PRKCQ,missense_variant,p.Phe395Leu,ENST00000263125,;PRKCQ,missense_variant,p.Phe270Leu,ENST00000539722,;	1285	116	167	SUCCESS
GRIA4	2893	.	GRCh37	11	105842662	105842662	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	71	133	0	ENST00000282499.5:c.2316T>A	p.Val772=	p.V772=	ENST00000282499	NM_000829.3	772	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8333.1	2316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTTTTGAA	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	15/17	.	.	.	.	.	.	.	.	COSM3687071	15/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,synonymous_variant,p.%3D,ENST00000282499,;GRIA4,synonymous_variant,p.%3D,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,;GRIA4,intron_variant,,ENST00000525187,;RNU6-277P,downstream_gene_variant,,ENST00000516272,;GRIA4,intron_variant,,ENST00000533094,;GRIA4,missense_variant,p.Phe101Ile,ENST00000525942,;	2762	133	190	SUCCESS
ACP2	53	.	GRCh37	11	47267056	47267056	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs942193347	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	31	94	0	ENST00000256997.3:c.518C>G	p.Pro173Arg	p.P173R	ENST00000256997	NM_001610.2	173	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS7928.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGGTGTC	NONE	.	.	hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF108,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254	.	.	ENSP00000256997	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000256997	Transcript	.	.	ENSG00000134575	123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.47)	.	PPAL_HUMAN	ACP2	HGNC	F5GWV7_HUMAN	.	UPI0000131FE1	SNV	ACP2,missense_variant,p.Pro145Arg,ENST00000533929,;ACP2,missense_variant,p.Pro173Arg,ENST00000256997,;ACP2,missense_variant,p.Pro141Arg,ENST00000527256,;ACP2,intron_variant,,ENST00000530453,;ACP2,intron_variant,,ENST00000529444,;ACP2,intron_variant,,ENST00000537863,;ACP2,intron_variant,,ENST00000529663,;NR1H3,upstream_gene_variant,,ENST00000395397,;NR1H3,upstream_gene_variant,,ENST00000405576,;ACP2,downstream_gene_variant,,ENST00000529788,;NR1H3,upstream_gene_variant,,ENST00000481889,;NR1H3,upstream_gene_variant,,ENST00000407404,;NR1H3,upstream_gene_variant,,ENST00000436778,;ACP2,downstream_gene_variant,,ENST00000444355,;NR1H3,upstream_gene_variant,,ENST00000531660,;ACP2,non_coding_transcript_exon_variant,,ENST00000534752,;NR1H3,upstream_gene_variant,,ENST00000495866,;NR1H3,upstream_gene_variant,,ENST00000527464,;NR1H3,upstream_gene_variant,,ENST00000532630,;NR1H3,upstream_gene_variant,,ENST00000529540,;ACP2,upstream_gene_variant,,ENST00000524769,;ACP2,upstream_gene_variant,,ENST00000525230,;ACP2,non_coding_transcript_exon_variant,,ENST00000534448,;ACP2,intron_variant,,ENST00000531547,;ACP2,intron_variant,,ENST00000531004,;NR1H3,upstream_gene_variant,,ENST00000481020,;NR1H3,upstream_gene_variant,,ENST00000487913,;	635	94	150	SUCCESS
TMEM179B	374395	.	GRCh37	11	62554934	62554934	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761490110	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	12	0	ENST00000333449.4:c.31C>A	p.Leu11Ile	p.L11I	ENST00000333449	NM_199337.2	11	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS8036.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGCTTGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR31056:SF1,hmmpanther:PTHR31056	.	.	ENSP00000333697	.	1/5	.	.	.	.	.	.	.	.	rs761490110	1/5	PASS	ENST00000333449	Transcript	.	.	ENSG00000185475	33744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	T179B_HUMAN	TMEM179B	HGNC	.	.	UPI000019AB69	SNV	TMEM179B,missense_variant,p.Leu11Ile,ENST00000533861,;TMEM179B,missense_variant,p.Leu11Ile,ENST00000333449,;TMEM223,intron_variant,,ENST00000528367,;NXF1,downstream_gene_variant,,ENST00000532297,;TMEM179B,upstream_gene_variant,,ENST00000526546,;TMEM223,downstream_gene_variant,,ENST00000525631,;TAF6L,downstream_gene_variant,,ENST00000294168,;NXF1,downstream_gene_variant,,ENST00000294172,;NXF1,downstream_gene_variant,,ENST00000527902,;NXF1,downstream_gene_variant,,ENST00000531709,;TMEM223,downstream_gene_variant,,ENST00000307366,;RP11-727F15.12,upstream_gene_variant,,ENST00000601484,;TMEM223,intron_variant,,ENST00000527073,;NXF1,downstream_gene_variant,,ENST00000533048,;TMEM179B,non_coding_transcript_exon_variant,,ENST00000532586,;TMEM179B,upstream_gene_variant,,ENST00000532345,;NXF1,downstream_gene_variant,,ENST00000533499,;NXF1,downstream_gene_variant,,ENST00000527497,;TAF6L,downstream_gene_variant,,ENST00000524976,;	36	12	32	SUCCESS
ALG8	79053	.	GRCh37	11	77850682	77850682	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	52	0	ENST00000299626.5:c.-48G>A		p.*16*	ENST00000299626	NM_024079.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8258.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATCCCGCG	NONE	.	.	.	.	.	ENSP00000299626	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000299626	Transcript	.	.	ENSG00000159063	23161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALG8_HUMAN	ALG8	HGNC	E9PR58_HUMAN,E9PKA5_HUMAN	.	UPI000013E5C8	SNV	ALG8,5_prime_UTR_variant,,ENST00000299626,;ALG8,upstream_gene_variant,,ENST00000525870,;ALG8,upstream_gene_variant,,ENST00000530454,;ALG8,upstream_gene_variant,,ENST00000376156,;ALG8,upstream_gene_variant,,ENST00000525761,;ALG8,upstream_gene_variant,,ENST00000525755,;ALG8,upstream_gene_variant,,ENST00000530910,;ALG8,upstream_gene_variant,,ENST00000527099,;KCTD21-AS1,upstream_gene_variant,,ENST00000530261,;KCTD21-AS1,upstream_gene_variant,,ENST00000532831,;KCTD21-AS1,upstream_gene_variant,,ENST00000500113,;KCTD21-AS1,upstream_gene_variant,,ENST00000523626,;KCTD21-AS1,upstream_gene_variant,,ENST00000527321,;ALG8,non_coding_transcript_exon_variant,,ENST00000526928,;ALG8,upstream_gene_variant,,ENST00000532552,;ALG8,5_prime_UTR_variant,,ENST00000526737,;ALG8,upstream_gene_variant,,ENST00000532050,;	25	52	97	SUCCESS
ZNF140	7699	.	GRCh37	12	133682847	133682847	+	synonymous_variant	Silent	SNP	G	G	A	rs529439392	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	73	110	0	ENST00000355557.2:c.984G>A	p.Pro328=	p.P328=	ENST00000355557	NM_003440.2	328	ccG/ccA	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS9282.1	984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGTATGA	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF36,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	A:0	.	ENSP00000347755	A:0	5/5	.	.	.	.	.	.	.	.	rs529439392	5/5	PASS	ENST00000355557	Transcript	.	A:0.0002	ENSG00000196387	12925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	ZN140_HUMAN	ZNF140	HGNC	Q05CP6_HUMAN,I3L0D9_HUMAN,F5H4I1_HUMAN,B4DKI0_HUMAN	.	UPI0000074687	SNV	ZNF140,synonymous_variant,p.%3D,ENST00000544426,;ZNF140,synonymous_variant,p.%3D,ENST00000355557,;ZNF140,3_prime_UTR_variant,,ENST00000440550,;ZNF140,downstream_gene_variant,,ENST00000429434,;ZNF140,downstream_gene_variant,,ENST00000356456,;ZNF140,downstream_gene_variant,,ENST00000412146,;ZNF140,downstream_gene_variant,,ENST00000319849,;ZNF140,3_prime_UTR_variant,,ENST00000536790,;ZNF140,downstream_gene_variant,,ENST00000392041,;	2267	110	146	SUCCESS
ALX1	8092	.	GRCh37	12	85695157	85695157	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	51	120	0	ENST00000316824.3:c.885T>C	p.Phe295=	p.F295=	ENST00000316824	NM_006982.2	295	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS9028.1	885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTTGAAAC	NONE	.	.	hmmpanther:PTHR24329:SF277,hmmpanther:PTHR24329	.	.	ENSP00000315417	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000316824	Transcript	.	.	ENSG00000180318	1494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALX1_HUMAN	ALX1	HGNC	.	.	UPI000013FEBD	SNV	ALX1,synonymous_variant,p.%3D,ENST00000316824,;	1040	120	127	SUCCESS
RASSF9	9182	.	GRCh37	12	86230234	86230234	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	10	0	ENST00000361228.3:c.-255C>T		p.*85*	ENST00000361228	NM_005447.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44950.1	.	MUTECT|MUSE	.	AGAAGGCGTTT	NONE	.	.	.	.	.	ENSP00000354884	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000361228	Transcript	.	.	ENSG00000198774	15739	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASF9_HUMAN	RASSF9	HGNC	.	.	UPI000003E7E4	SNV	RASSF9,5_prime_UTR_variant,,ENST00000361228,;	115	10	9	SUCCESS
SLC10A2	6555	.	GRCh37	13	103718590	103718590	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755730155	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	46	0	ENST00000245312.3:c.10C>A	p.Pro4Thr	p.P4T	ENST00000245312	NM_000452.2	4	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9506.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGGATCAT	NONE	.	.	TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19	.	.	ENSP00000245312	.	1/6	.	.	.	.	.	.	.	.	rs755730155	1/6	PASS	ENST00000245312	Transcript	.	.	ENSG00000125255	10906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.74)	.	NTCP2_HUMAN	SLC10A2	HGNC	.	.	UPI000013CB9B	SNV	SLC10A2,missense_variant,p.Pro4Thr,ENST00000245312,;	607	46	59	SUCCESS
NBEA	26960	.	GRCh37	13	36242504	36242504	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	78	0	ENST00000400445.3:c.8599-1G>T		p.X2867_splice	ENST00000400445	NM_015678.4	2867		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45026.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGCCAT	NONE	.	.	.	.	.	ENSP00000383295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	56/57	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,splice_acceptor_variant,,ENST00000400445,;NBEA,splice_acceptor_variant,,ENST00000540320,;NBEA,splice_acceptor_variant,,ENST00000379922,;NBEA,splice_acceptor_variant,,ENST00000310336,;NBEA,splice_acceptor_variant,,ENST00000537702,;NBEA,splice_acceptor_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000461581,;	.	78	61	SUCCESS
NBEA	26960	.	GRCh37	13	36242505	36242505	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs747475015	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	79	0	ENST00000400445.3:c.8599G>T	p.Ala2867Ser	p.A2867S	ENST00000400445	NM_015678.4	2867	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45026.1	8599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGCCATT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000383295	.	57/58	.	.	.	.	.	.	.	.	rs747475015	57/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.734)	.	tolerated(0.08)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Ala2867Ser,ENST00000400445,;NBEA,missense_variant,p.Ala2867Ser,ENST00000540320,;NBEA,missense_variant,p.Ala445Ser,ENST00000379922,;NBEA,missense_variant,p.Ala2867Ser,ENST00000310336,;NBEA,missense_variant,p.Ala660Ser,ENST00000537702,;NBEA,missense_variant,p.Ala2864Ser,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000461581,;	9133	79	61	SUCCESS
AHNAK2	113146	.	GRCh37	14	105413235	105413235	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	71	124	0	ENST00000333244.5:c.8553C>G	p.Ser2851=	p.S2851=	ENST00000333244	NM_138420.2	2851	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS45177.1	8553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGGAGGG	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,synonymous_variant,p.%3D,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	8673	124	168	SUCCESS
NYNRIN	57523	.	GRCh37	14	24884746	24884746	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	66	0	ENST00000382554.3:c.3791A>G	p.Asp1264Gly	p.D1264G	ENST00000382554	NM_025081.2	1264	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45090.1	3791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGACAAAG	NONE	.	.	Superfamily_domains:SSF56672,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Asp1264Gly,ENST00000382554,;NYNRIN,downstream_gene_variant,,ENST00000554505,;	4109	67	96	SUCCESS
SEC23A	10484	.	GRCh37	14	39517887	39517887	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	33	83	0	ENST00000307712.6:c.1706G>A	p.Arg569Lys	p.R569K	ENST00000307712	NM_006364.2	569	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS9668.1	1706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTGAAG	NONE	.	.	hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF5,Pfam_domain:PF04815,Superfamily_domains:SSF81811	.	.	ENSP00000306881	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000307712	Transcript	.	.	ENSG00000100934	10701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.04)	.	SC23A_HUMAN	SEC23A	HGNC	G3V5K1_HUMAN,G3V3G5_HUMAN,G3V2R6_HUMAN,B3KXI2_HUMAN	.	UPI000013EC46	SNV	SEC23A,missense_variant,p.Arg569Lys,ENST00000307712,;SEC23A,missense_variant,p.Arg443Lys,ENST00000536508,;SEC23A,missense_variant,p.Arg540Lys,ENST00000545328,;SEC23A,missense_variant,p.Arg367Lys,ENST00000537403,;	2224	83	88	SUCCESS
MIA2	4253	.	GRCh37	14	39716435	39716435	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	101	162	0	ENST00000280082.3:c.657T>A	p.Ala219=	p.A219=	ENST00000280082	NM_054024.3	219	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9672.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTGTGTC	NONE	.	.	hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF42	.	.	ENSP00000280082	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000280082	Transcript	.	.	ENSG00000150526	18432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIA2_HUMAN	MIA2	HGNC	G3V4M1_HUMAN,B2RA73_HUMAN	.	UPI0000351D6B	SNV	RP11-407N17.3,synonymous_variant,p.%3D,ENST00000553728,;MIA2,synonymous_variant,p.%3D,ENST00000556784,;MIA2,synonymous_variant,p.%3D,ENST00000280082,;	856	162	243	SUCCESS
ZBTB25	7597	.	GRCh37	14	64954457	64954457	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	23	108	0	ENST00000394715.1:c.492C>T	p.Asp164=	p.D164=	ENST00000394715		164	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS9765.1	492	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGTCACC	NONE	.	.	hmmpanther:PTHR23228:SF6,hmmpanther:PTHR23228	.	.	ENSP00000476746	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000608382	Transcript	.	.	ENSG00000089775	13112	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZBTB25	HGNC	.	.	UPI0000074252	SNV	ZBTB25,synonymous_variant,p.%3D,ENST00000394715,;ZBTB25,synonymous_variant,p.%3D,ENST00000608382,;ZBTB25,intron_variant,,ENST00000555424,;ZBTB25,intron_variant,,ENST00000555220,;	684	108	142	SUCCESS
GLRX5	51218	.	GRCh37	14	96010306	96010306	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	300	9	221	0	ENST00000331334.4:c.318G>T	p.Trp106Cys	p.W106C	ENST00000331334	NM_016417.2	106	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS9936.1	318	MUTECT|MUSE	.	AACTGGCCCAC	NONE	.	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10293,TIGRFAM_domain:TIGR00365,Pfam_domain:PF00462,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000328570	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331334	Transcript	1	.	ENSG00000182512	20134	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLRX5_HUMAN	GLRX5	HGNC	.	.	UPI000000DC2E	SNV	GLRX5,missense_variant,p.Trp106Cys,ENST00000331334,;GLRX5,3_prime_UTR_variant,,ENST00000557731,;GLRX5,non_coding_transcript_exon_variant,,ENST00000553672,;	815	221	309	SUCCESS
DAPK2	23604	.	GRCh37	15	64204312	64204312	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	71	0	ENST00000261891.3:c.943T>A	p.Trp315Arg	p.W315R	ENST00000261891		315	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS10188.1	943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCACCGCC	NONE	.	.	hmmpanther:PTHR22964	.	.	ENSP00000261891	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000261891	Transcript	.	.	ENSG00000035664	2675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	deleterious(0)	.	DAPK2_HUMAN	DAPK2	HGNC	H0YKW8_HUMAN	.	UPI000006DFD1	SNV	DAPK2,missense_variant,p.Trp315Arg,ENST00000457488,;DAPK2,missense_variant,p.Trp315Arg,ENST00000261891,;DAPK2,non_coding_transcript_exon_variant,,ENST00000559731,;DAPK2,3_prime_UTR_variant,,ENST00000559007,;DAPK2,non_coding_transcript_exon_variant,,ENST00000557867,;DAPK2,upstream_gene_variant,,ENST00000558064,;	949	71	124	SUCCESS
NOX5	79400	.	GRCh37	15	69320838	69320838	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	13	0	ENST00000388866.3:c.325+133G>T		p.*109*	ENST00000388866	NM_024505.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32276.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGTGAG	NONE	.	.	.	.	.	ENSP00000373518	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000388866	Transcript	.	.	ENSG00000255346	14874	.	.	MODIFIER	3/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX5_HUMAN	NOX5	HGNC	.	.	UPI000006DDBD	SNV	NOX5,intron_variant,,ENST00000530406,;NOX5,intron_variant,,ENST00000388866,;NOX5,intron_variant,,ENST00000448182,;NOX5,intron_variant,,ENST00000455873,;NOX5,intron_variant,,ENST00000260364,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;RP11-809H16.2,non_coding_transcript_exon_variant,,ENST00000557966,;NOX5,upstream_gene_variant,,ENST00000525143,;RP11-809H16.3,downstream_gene_variant,,ENST00000558160,;	.	13	28	SUCCESS
ABCC6	368	.	GRCh37	16	16248764	16248764	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	50	94	0	ENST00000205557.7:c.4007A>C	p.His1336Pro	p.H1336P	ENST00000205557	NM_001171.5	1336	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS10568.1	4007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGTGCAGC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,TIGRFAM_domain:TIGR00957,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	.	.	ENSP00000205557	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.752)	.	deleterious(0)	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,missense_variant,p.His1336Pro,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;ABCC6,non_coding_transcript_exon_variant,,ENST00000576204,;	4037	94	180	SUCCESS
ABCC6	368	.	GRCh37	16	16255355	16255355	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	123	120	0	ENST00000205557.7:c.3573G>T	p.Val1191=	p.V1191=	ENST00000205557	NM_001171.5	1191	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10568.1	3573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCACAGC	NONE	.	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,TIGRFAM_domain:TIGR00957,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50929	.	.	ENSP00000205557	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,synonymous_variant,p.%3D,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;	3603	120	251	SUCCESS
ABCC6	368	.	GRCh37	16	16255356	16255356	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	122	120	0	ENST00000205557.7:c.3572T>G	p.Val1191Gly	p.V1191G	ENST00000205557	NM_001171.5	1191	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS10568.1	3572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCACAGCA	NONE	.	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,TIGRFAM_domain:TIGR00957,hmmpanther:PTHR24223:SF63,hmmpanther:PTHR24223,PROSITE_profiles:PS50929	.	.	ENSP00000205557	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,missense_variant,p.Val1191Gly,ENST00000205557,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;	3602	120	251	SUCCESS
KATNB1	10300	.	GRCh37	16	57790767	57790767	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	32	62	0	ENST00000379661.3:c.1877T>G	p.Ile626Ser	p.I626S	ENST00000379661	NM_005886.2	626	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS10788.1	1877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATCAGCG	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_03022,hmmpanther:PTHR19845,Pfam_domain:PF13925	.	.	ENSP00000368982	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000379661	Transcript	.	.	ENSG00000140854	6217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	deleterious(0)	.	KTNB1_HUMAN	KATNB1	HGNC	H3BTV8_HUMAN,H3BPK1_HUMAN	.	UPI000007388F	SNV	KATNB1,missense_variant,p.Ile272Ser,ENST00000563462,;KATNB1,missense_variant,p.Ile626Ser,ENST00000379661,;KIFC3,downstream_gene_variant,,ENST00000565270,;KIFC3,downstream_gene_variant,,ENST00000539578,;KIFC3,downstream_gene_variant,,ENST00000543930,;KIFC3,downstream_gene_variant,,ENST00000379655,;KIFC3,downstream_gene_variant,,ENST00000540079,;KIFC3,downstream_gene_variant,,ENST00000421376,;KIFC3,downstream_gene_variant,,ENST00000465878,;KIFC3,downstream_gene_variant,,ENST00000565397,;KATNB1,downstream_gene_variant,,ENST00000562592,;KIFC3,downstream_gene_variant,,ENST00000445690,;KIFC3,downstream_gene_variant,,ENST00000541240,;KIFC3,downstream_gene_variant,,ENST00000562903,;KATNB1,downstream_gene_variant,,ENST00000566726,;KATNB1,non_coding_transcript_exon_variant,,ENST00000569018,;KATNB1,non_coding_transcript_exon_variant,,ENST00000562542,;KATNB1,non_coding_transcript_exon_variant,,ENST00000566611,;KIFC3,downstream_gene_variant,,ENST00000564136,;KATNB1,downstream_gene_variant,,ENST00000563127,;KIFC3,downstream_gene_variant,,ENST00000565753,;	2269	62	120	SUCCESS
HYDIN	54768	.	GRCh37	16	70954810	70954810	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367546874	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	29	0	ENST00000393567.2:c.7469C>T	p.Ala2490Val	p.A2490V	ENST00000393567	NM_001270974.1	2490	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS59269.1	7469	SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGCTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	A:0.0001	ENSP00000377197	.	46/86	.	.	.	.	.	.	.	.	rs367546874	46/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Ala2490Val,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;	7620	29	38	SUCCESS
HOXB8	3218	.	GRCh37	17	46692119	46692119	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	12	4	ENST00000239144.4:c.-53A>C		p.*18*	ENST00000239144	NM_024016.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11533.1	.	MUTECT|MUSE	.	GCTGTTGGGGA	NONE	.	.	.	.	.	ENSP00000239144	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239144	Transcript	.	.	ENSG00000120068	5119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXB8_HUMAN	HOXB8	HGNC	I3L221_HUMAN	.	UPI000012CF63	SNV	HOXB8,splice_region_variant,,ENST00000468443,;HOXB8,5_prime_UTR_variant,,ENST00000239144,;HOXB7,upstream_gene_variant,,ENST00000239165,;HOXB8,upstream_gene_variant,,ENST00000576562,;HOXB8,upstream_gene_variant,,ENST00000498634,;HOXB7,intron_variant,,ENST00000567101,;	183	16	38	SUCCESS
LPO	4025	.	GRCh37	17	56344913	56344913	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1184145526	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	68	0	ENST00000262290.4:c.1897G>A	p.Gly633Ser	p.G633S	ENST00000262290	NM_006151.2	633	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32689.1	1897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGGCAAG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF53,hmmpanther:PTHR11475,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000262290	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000262290	Transcript	.	.	ENSG00000167419	6678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.12)	.	PERL_HUMAN	LPO	HGNC	J3QSD8_HUMAN,F5H386_HUMAN	.	UPI0000131631	SNV	LPO,missense_variant,p.Gly550Ser,ENST00000421678,;LPO,missense_variant,p.Gly633Ser,ENST00000262290,;LPO,missense_variant,p.Gly574Ser,ENST00000543544,;LPO,missense_variant,p.Gly550Ser,ENST00000582328,;MPO,downstream_gene_variant,,ENST00000340482,;MPO,downstream_gene_variant,,ENST00000225275,;MPO,downstream_gene_variant,,ENST00000577220,;LPO,3_prime_UTR_variant,,ENST00000580890,;LPO,3_prime_UTR_variant,,ENST00000389576,;	2213	68	117	SUCCESS
TSHZ1	10194	.	GRCh37	18	73000060	73000060	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	45	0	ENST00000580243.1:c.2698C>T	p.Leu900=	p.L900=	ENST00000580243		900	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12009.1	2563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCTGCAG	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF6,SMART_domains:SM00389	.	.	ENSP00000323584	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322038	Transcript	.	.	ENSG00000179981	10669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSH1_HUMAN	TSHZ1	HGNC	H0YN23_HUMAN,H0YKA1_HUMAN,A7YF73_HUMAN	.	UPI000021BFB5	SNV	TSHZ1,synonymous_variant,p.%3D,ENST00000580243,;TSHZ1,synonymous_variant,p.%3D,ENST00000322038,;TSHZ1,downstream_gene_variant,,ENST00000560661,;TSHZ1,downstream_gene_variant,,ENST00000560918,;TSHZ1,non_coding_transcript_exon_variant,,ENST00000584217,;	3147	45	65	SUCCESS
ZNF516	9658	.	GRCh37	18	74154504	74154504	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	17	0	ENST00000443185.2:c.507G>T	p.Glu169Asp	p.E169D	ENST00000443185	NM_014643.3	169	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	.	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCTCCCC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3	.	.	ENSP00000394757	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000443185	Transcript	.	.	ENSG00000101493	28990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.33)	.	ZN516_HUMAN	ZNF516	HGNC	F5H2K2_HUMAN	.	UPI00001394A1	SNV	ZNF516,missense_variant,p.Glu169Asp,ENST00000443185,;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	825	17	36	SUCCESS
HMHA1	0	.	GRCh37	19	1080975	1080975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	43	111	0	ENST00000313093.2:c.2102G>A	p.Arg701His	p.R701H	ENST00000313093	NM_012292.3	701	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS58637.1	2150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGTACTC	NONE	.	.	hmmpanther:PTHR15228:SF18,hmmpanther:PTHR15228,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000439601	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000539243	Transcript	.	.	ENSG00000180448	17102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.13)	.	HMHA1_HUMAN	HMHA1	HGNC	O78181_HUMAN	.	UPI0001AE63E1	SNV	HMHA1,missense_variant,p.Arg701His,ENST00000313093,;HMHA1,missense_variant,p.Arg728His,ENST00000590214,;HMHA1,missense_variant,p.Arg336His,ENST00000590577,;HMHA1,missense_variant,p.Arg717His,ENST00000539243,;HMHA1,missense_variant,p.Arg705His,ENST00000586866,;HMHA1,missense_variant,p.Arg584His,ENST00000543365,;HMHA1,missense_variant,p.Arg569His,ENST00000536472,;HMHA1,upstream_gene_variant,,ENST00000591169,;HMHA1,upstream_gene_variant,,ENST00000590512,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,upstream_gene_variant,,ENST00000592297,;HMHA1,upstream_gene_variant,,ENST00000586378,;HMHA1,upstream_gene_variant,,ENST00000586937,;HMHA1,downstream_gene_variant,,ENST00000591293,;	2253	111	184	SUCCESS
NOTCH3	4854	.	GRCh37	19	15291624	15291624	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	59	0	ENST00000263388.2:c.3010T>G	p.Cys1004Gly	p.C1004G	ENST00000263388	NM_000435.2	1004	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS12326.1	3010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACCAAT	NONE	.	.	Superfamily_domains:SSF57196,Superfamily_domains:SSF57196,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2gy5A03,Pfam_domain:PF00008,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Cys1004Gly,ENST00000263388,;NOTCH3,missense_variant,p.Cys951Gly,ENST00000601011,;NOTCH3,upstream_gene_variant,,ENST00000600841,;NOTCH3,upstream_gene_variant,,ENST00000595045,;	3086	59	67	SUCCESS
CHST8	64377	.	GRCh37	19	34263953	34263953	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	13	0	ENST00000262622.4:c.1260T>C	p.Phe420=	p.F420=	ENST00000262622	NM_022467.3	420	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS12433.1	1260	MUTECT|MUSE	.	CCCTTTGCAGA	NONE	.	.	hmmpanther:PTHR12137:SF7,hmmpanther:PTHR12137	.	.	ENSP00000262622	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262622	Transcript	1	.	ENSG00000124302	15993	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHST8_HUMAN	CHST8	HGNC	K7ENM3_HUMAN	.	UPI000006F966	SNV	CHST8,synonymous_variant,p.%3D,ENST00000438847,;CHST8,synonymous_variant,p.%3D,ENST00000262622,;CHST8,synonymous_variant,p.%3D,ENST00000434302,;CHST8,downstream_gene_variant,,ENST00000591231,;	2018	13	33	SUCCESS
HPN-AS1	100128675	.	GRCh37	19	35550386	35550386	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs547872640	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	10	0	ENST00000392227.2:n.701A>T		p.*234*	ENST00000392227				0	.	A:0.0015	.	A:0.0029	.	A	.	protein_coding	YES	CCDS32993.1	.	MUTECT|MUSE	.	GTCTTTAAAAA	NONE	byFrequency|by1000G	.	.	A:0.002	.	ENSP00000262626	A:0	.	.	.	.	.	.	.	.	.	rs547872640	.	PASS	ENST00000262626	Transcript	.	A:0.0014	ENSG00000105707	5155	.	.	MODIFIER	4/12	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	HEPS_HUMAN	HPN	HGNC	M0R244_HUMAN,B2ZDQ2_HUMAN	.	UPI000003FE67	SNV	HPN,intron_variant,,ENST00000597419,;HPN,intron_variant,,ENST00000262626,;HPN,intron_variant,,ENST00000392226,;HPN,intron_variant,,ENST00000600390,;HPN-AS1,non_coding_transcript_exon_variant,,ENST00000392227,;HPN,intron_variant,,ENST00000600675,;HPN,intron_variant,,ENST00000599363,;HPN,intron_variant,,ENST00000593305,;HPN,intron_variant,,ENST00000596662,;HPN,intron_variant,,ENST00000541345,;	.	10	11	SUCCESS
ZFP82	284406	.	GRCh37	19	36884752	36884752	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749551905	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	43	116	0	ENST00000392161.3:c.490C>A	p.His164Asn	p.H164N	ENST00000392161	NM_133466.2	164	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS12493.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGAAGTC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000431265	.	5/5	.	.	.	.	.	.	.	.	rs749551905	5/5	PASS	ENST00000392161	Transcript	.	.	ENSG00000181007	28682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	ZFP82_HUMAN	ZFP82	HGNC	D3Y299_HUMAN	.	UPI0000071159	SNV	ZFP82,missense_variant,p.His164Asn,ENST00000392171,;ZFP82,missense_variant,p.His164Asn,ENST00000392161,;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	733	116	137	SUCCESS
SARS2	54938	.	GRCh37	19	39421215	39421215	+	synonymous_variant	Silent	SNP	T	T	C	rs754739660	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	43	0	ENST00000221431.6:c.162A>G	p.Ala54=	p.A54=	ENST00000221431	NM_017827.3	54	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54265.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGTGCGCT	NONE	.	.	hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778	.	.	ENSP00000472847	.	1/17	.	.	.	.	.	.	.	.	rs754739660	1/17	PASS	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,synonymous_variant,p.%3D,ENST00000600042,;SARS2,synonymous_variant,p.%3D,ENST00000221431,;SARS2,synonymous_variant,p.%3D,ENST00000430193,;MRPS12,5_prime_UTR_variant,,ENST00000308018,;SARS2,intron_variant,,ENST00000448145,;CTC-360G5.8,intron_variant,,ENST00000599996,;MRPS12,upstream_gene_variant,,ENST00000407800,;SARS2,upstream_gene_variant,,ENST00000594171,;MRPS12,upstream_gene_variant,,ENST00000402029,;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;SARS2,synonymous_variant,p.%3D,ENST00000455102,;SARS2,synonymous_variant,p.%3D,ENST00000598343,;SARS2,synonymous_variant,p.%3D,ENST00000593754,;SARS2,non_coding_transcript_exon_variant,,ENST00000598598,;MRPS12,upstream_gene_variant,,ENST00000598734,;	187	43	74	SUCCESS
SAMD4B	55095	.	GRCh37	19	39867144	39867144	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	45	0	ENST00000314471.6:c.975C>T	p.Tyr325=	p.Y325=	ENST00000314471	NM_018028.2	325	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS33020.1	975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTACGAGGA	NONE	.	.	hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF9,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000317224	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000314471	Transcript	.	.	ENSG00000179134	25492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAG2_HUMAN	SAMD4B	HGNC	M0QY61_HUMAN,M0QXV2_HUMAN	.	UPI00001D8165	SNV	SAMD4B,synonymous_variant,p.%3D,ENST00000598913,;SAMD4B,synonymous_variant,p.%3D,ENST00000314471,;SAMD4B,synonymous_variant,p.%3D,ENST00000600018,;SAMD4B,intron_variant,,ENST00000596368,;SAMD4B,upstream_gene_variant,,ENST00000598605,;SAMD4B,upstream_gene_variant,,ENST00000595476,;SAMD4B,downstream_gene_variant,,ENST00000596319,;	2010	45	68	SUCCESS
IRF2BP1	26145	.	GRCh37	19	46388496	46388496	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	33	0	ENST00000302165.3:c.537G>T	p.Leu179=	p.L179=	ENST00000302165	NM_015649.1	179	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12678.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGTCAGGCC	NONE	.	.	hmmpanther:PTHR10816:SF17,hmmpanther:PTHR10816	.	.	ENSP00000307265	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302165	Transcript	.	.	ENSG00000170604	21728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I2BP1_HUMAN	IRF2BP1	HGNC	.	.	UPI00000747C7	SNV	IRF2BP1,synonymous_variant,p.%3D,ENST00000302165,;MYPOP,downstream_gene_variant,,ENST00000322217,;	881	33	59	SUCCESS
KIAA2013	90231	.	GRCh37	1	11985938	11985938	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	38	0	ENST00000376572.3:c.357G>C	p.Ala119=	p.A119=	ENST00000376572	NM_138346.2	119	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS141.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCGCCAC	NONE	.	.	hmmpanther:PTHR31386,Pfam_domain:PF10222	.	.	ENSP00000365756	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376572	Transcript	.	.	ENSG00000116685	28513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2013_HUMAN	KIAA2013	HGNC	.	.	UPI00000741FB	SNV	KIAA2013,synonymous_variant,p.%3D,ENST00000376576,;KIAA2013,synonymous_variant,p.%3D,ENST00000376572,;	543	38	36	SUCCESS
RP5-998N21.10	0	.	GRCh37	1	149398927	149398927	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	50	113	0	ENST00000609879.1:n.650A>T		p.*217*	ENST00000609879				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTTGTAGT	NONE	.	1204	.	.	.	ENSP00000476960	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392948	Transcript	.	.	ENSG00000203818	32060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HIST2H3PS2	HGNC	Q5TEC6_HUMAN	.	UPI0000470A88	SNV	HIST2H3PS2,downstream_gene_variant,,ENST00000392948,;RP5-998N21.7,upstream_gene_variant,,ENST00000444624,;HIST2H2BB,non_coding_transcript_exon_variant,,ENST00000609585,;RP5-998N21.10,non_coding_transcript_exon_variant,,ENST00000609879,;HIST2H2BB,non_coding_transcript_exon_variant,,ENST00000449108,;	.	113	138	SUCCESS
CHRNB2	1141	.	GRCh37	1	154548297	154548297	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	59	0	ENST00000368476.3:c.1398T>C	p.Phe466=	p.F466=	ENST00000368476	NM_000748.2	466	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS1070.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTTGTCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF80,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:1.20.120.370,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000357461	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000368476	Transcript	.	.	ENSG00000160716	1962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACHB2_HUMAN	CHRNB2	HGNC	Q5SXY3_HUMAN	.	UPI000012526E	SNV	CHRNB2,synonymous_variant,p.%3D,ENST00000368476,;RP11-61L14.6,downstream_gene_variant,,ENST00000421866,;	1662	59	114	SUCCESS
FBXO42	54455	.	GRCh37	1	16579610	16579610	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	271	16	159	0	ENST00000375592.3:c.902G>A	p.Gly301Glu	p.G301E	ENST00000375592	NM_018994.1	301	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS30613.1	902	MUTECT|MUSE	.	CACACCCTCCG	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF250,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000364742	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	SNV	FBXO42,missense_variant,p.Gly301Glu,ENST00000375592,;FBXO42,missense_variant,p.Gly19Glu,ENST00000444116,;FBXO42,missense_variant,p.Gly19Glu,ENST00000456164,;	1119	159	287	SUCCESS
RASAL2	9462	.	GRCh37	1	178310662	178310662	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	39	74	0	ENST00000462775.1:c.-69A>G		p.*23*	ENST00000462775	NM_004841.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1321.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATACAAAG	NONE	.	.	.	.	.	ENSP00000356621	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	MODIFIER	3/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,5_prime_UTR_variant,,ENST00000462775,;RASAL2,intron_variant,,ENST00000367649,;RASAL2,intron_variant,,ENST00000448150,;	.	74	125	SUCCESS
AKR7A3	22977	.	GRCh37	1	19612450	19612450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	65	127	0	ENST00000361640.4:c.439G>T	p.Ala147Ser	p.A147S	ENST00000361640	NM_012067.2	147	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS193.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCTGCAT	NONE	.	.	hmmpanther:PTHR11732:SF186,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430	.	.	ENSP00000355377	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000361640	Transcript	.	.	ENSG00000162482	390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(1)	.	ARK73_HUMAN	AKR7A3	HGNC	.	.	UPI0000125D48	SNV	AKR7A3,missense_variant,p.Ala147Ser,ENST00000361640,;	980	127	171	SUCCESS
FAM43B	163933	.	GRCh37	1	20879214	20879214	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	10	0	ENST00000332947.4:c.-253A>C		p.*85*	ENST00000332947	NM_207334.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS209.1	.	RADIA|MUTECT|MUSE	.	TGGAGACACTC	NONE	.	.	.	.	.	ENSP00000331397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332947	Transcript	.	.	ENSG00000183114	31791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA43B_HUMAN	FAM43B	HGNC	.	.	UPI00001C0D42	SNV	FAM43B,5_prime_UTR_variant,,ENST00000332947,;	283	10	12	SUCCESS
FMN2	56776	.	GRCh37	1	240371477	240371477	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771184346	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	77	0	ENST00000319653.9:c.3365C>T	p.Pro1122Leu	p.P1122L	ENST00000319653	NM_020066.4	1122	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS31069.2	3365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCCCCTC	BUFFER|p.G1280_P1290del11|c.3760_3792del33|3,BUFFER|p.P1262P|c.3786C>T|3,BUFFER|p.L1267L|c.3801A>T|7	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF06346,Pfam_domain:PF06346,SMART_domains:SM00498	.	.	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	rs771184346	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Pro1122Leu,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	3595	77	114	SUCCESS
CHML	1122	.	GRCh37	1	241798135	241798135	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	74	106	0	ENST00000366553.1:c.934G>A	p.Asp312Asn	p.D312N	ENST00000366553	NM_001821.3	312	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31073.1	934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCAGGAT	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,Gene3D:3.30.519.10,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000355511	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366553	Transcript	.	.	ENSG00000203668	1941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.03)	.	RAE2_HUMAN	CHML	HGNC	.	.	UPI0000073C74	SNV	CHML,missense_variant,p.Asp312Asn,ENST00000366553,;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000366554,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;	1098	106	187	SUCCESS
AHDC1	27245	.	GRCh37	1	27878204	27878206	+	inframe_deletion	In_Frame_Del	DEL	ACT	ACT	-	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	ACT	ACT	.	.	.	.	.	.	.	.	.	.	.	.	.	113	44	111	0	ENST00000247087.5:c.421_423del	p.Ser141del	p.S141del	ENST00000247087		141	AGT/-	0	.	.	.	.	.	-	S/-	protein_coding	YES	CCDS30652.1	421-423	INDELOCATOR*|VARSCANI*|PINDEL	.	TACACCACTGTGCT	NONE	.	.	hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	deletion	AHDC1,inframe_deletion,p.Ser141del,ENST00000247087,;AHDC1,inframe_deletion,p.Ser141del,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	1390-1392	111	157	SUCCESS
CAMTA1	23261	.	GRCh37	1	7725035	7725036	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	139	40	96	0	ENST00000303635.7:c.2431_2432del	p.Arg811GlyfsTer14	p.R811Gfs*14	ENST00000303635	NM_015215.2	810	GCg/g	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS30576.1	2428-2429	VARSCANI*|PINDEL	.	GACGGGGCGCGGG	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	deletion	CAMTA1,frameshift_variant,p.Arg811GlyfsTer14,ENST00000303635,;CAMTA1,frameshift_variant,p.Arg811GlyfsTer14,ENST00000439411,;	2635-2636	96	179	SUCCESS
CD93	22918	.	GRCh37	20	23066284	23066284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	46	0	ENST00000246006.4:c.546C>A	p.Phe182Leu	p.F182L	ENST00000246006	NM_012072.3	182	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS13149.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGAACTT	NONE	.	.	hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PIRSF_domain:PIRSF001775,Superfamily_domains:SSF56436	.	.	ENSP00000246006	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000246006	Transcript	.	.	ENSG00000125810	15855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	C1QR1_HUMAN	CD93	HGNC	.	.	UPI00001273BC	SNV	CD93,missense_variant,p.Phe182Leu,ENST00000246006,;	694	46	74	SUCCESS
TTLL9	164395	.	GRCh37	20	30525234	30525234	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	50	52	0	ENST00000375938.4:c.1040C>A	p.Thr347Lys	p.T347K	ENST00000375938		347	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS42863.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACAGCCA	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF39,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000365105	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000375938	Transcript	.	.	ENSG00000131044	16118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0)	.	TTLL9_HUMAN	TTLL9	HGNC	.	.	UPI00001998D0	SNV	TTLL9,missense_variant,p.Thr347Lys,ENST00000375938,;TTLL9,missense_variant,p.Thr289Lys,ENST00000375922,;TTLL9,missense_variant,p.Asp223Glu,ENST00000375921,;TTLL9,missense_variant,p.Thr312Lys,ENST00000310998,;TTLL9,missense_variant,p.Thr347Lys,ENST00000535842,;TTLL9,3_prime_UTR_variant,,ENST00000375934,;	1293	53	107	SUCCESS
ACTR5	79913	.	GRCh37	20	37378813	37378813	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs761853960	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	72	113	0	ENST00000243903.4:c.536C>A	p.Ser179Ter	p.S179*	ENST00000243903	NM_024855.3	179	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS13308.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCGATGT	NONE	.	.	hmmpanther:PTHR11937:SF16,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268	.	.	ENSP00000243903	.	2/9	.	.	.	.	.	.	.	.	rs761853960	2/9	PASS	ENST00000243903	Transcript	.	.	ENSG00000101442	14671	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARP5_HUMAN	ACTR5	HGNC	.	.	UPI000006F9EF	SNV	ACTR5,stop_gained,p.Ser179Ter,ENST00000243903,;	573	113	180	SUCCESS
URB1	9875	.	GRCh37	21	33726360	33726360	+	synonymous_variant	Silent	SNP	C	C	T	rs370946383	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	5	89	0	ENST00000382751.3:c.2298G>A	p.Glu766=	p.E766=	ENST00000382751	NM_014825.2	766	gaG/gaA	0	T:0.0007	.	.	.	.	T	E	protein_coding	YES	CCDS46645.1	2298	MUTECT|MUSE	.	ATTTCCTCATC	NONE	.	.	hmmpanther:PTHR13500	.	T:0	ENSP00000372199	.	18/39	.	.	.	.	.	.	.	.	rs370946383	18/39	PASS	ENST00000382751	Transcript	.	.	ENSG00000142207	17344	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPA1P_HUMAN	URB1	HGNC	.	.	UPI0000185F65	SNV	URB1,synonymous_variant,p.%3D,ENST00000382751,;	2414	89	145	SUCCESS
KRTAP10-3	386682	.	GRCh37	21	45978509	45978509	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs587665364	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	29	39	0	ENST00000391620.1:c.90del	p.Cys31AlafsTer13	p.C31Afs*13	ENST00000391620	NM_198696.2	30	ccC/cc	0	.	-:0	.	-:0	.	-	P/X	protein_coding	YES	CCDS42956.1	90	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGCAGGGGGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF30,hmmpanther:PTHR23262,Pfam_domain:PF13885	-:0	.	ENSP00000375478	-:0	1/1	.	.	.	.	.	.	.	.	rs587665364,COSM3736287	1/1	common_in_exac	ENST00000391620	Transcript	.	-:0.0012	ENSG00000212935	22968	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	-:0.0061	.	0,1	KR103_HUMAN	KRTAP10-3	HGNC	.	.	UPI00003D4D6D	deletion	KRTAP10-3,frameshift_variant,p.Cys31AlafsTer13,ENST00000391620,;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000323084,;	135	39	109	SUCCESS
RFX8	731220	.	GRCh37	2	102018902	102018902	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	79	0	ENST00000428343.1:c.1241A>G	p.Asn414Ser	p.N414S	ENST00000428343	NM_001145664.1	414	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS46376.1	1241	MUTECT|MUSE	.	CCTTATTGCCC	NONE	.	.	hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF19	.	.	ENSP00000401536	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000428343	Transcript	.	.	ENSG00000196460	37253	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.392)	.	deleterious_low_confidence(0.04)	.	RFX8_HUMAN	RFX8	HGNC	.	.	UPI0001AE76D5	SNV	RFX8,missense_variant,p.Asn527Ser,ENST00000376826,;RFX8,missense_variant,p.Asn414Ser,ENST00000428343,;RFX8,3_prime_UTR_variant,,ENST00000481179,;	1361	79	113	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131785570	131785570	+	synonymous_variant	Silent	SNP	C	C	T	rs372979735	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	69	134	0	ENST00000326016.5:c.480C>T	p.Ser160=	p.S160=	ENST00000326016	NM_015320.3	160	agC/agT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS2165.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCGAGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826	.	T:0	ENSP00000316845	.	5/14	.	.	.	.	.	.	.	.	rs372979735,COSM69712	5/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,synonymous_variant,p.%3D,ENST00000392953,;ARHGEF4,synonymous_variant,p.%3D,ENST00000525839,;ARHGEF4,synonymous_variant,p.%3D,ENST00000409303,;ARHGEF4,synonymous_variant,p.%3D,ENST00000326016,;ARHGEF4,synonymous_variant,p.%3D,ENST00000355771,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,intron_variant,,ENST00000428230,;	999	134	109	SUCCESS
NCL	4691	.	GRCh37	2	232320222	232320222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	61	0	ENST00000322723.4:c.1946G>T	p.Gly649Val	p.G649V	ENST00000322723	NM_005381.2	649	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33397.1	1946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACCCTTA	NONE	.	.	Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF307	.	.	ENSP00000318195	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000322723	Transcript	.	.	ENSG00000115053	7667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	.	.	NUCL_HUMAN	NCL	HGNC	C9JYW2_HUMAN,C9JWL1_HUMAN,C9JLB1_HUMAN,C9J1H7_HUMAN,B3KM80_HUMAN	.	UPI0000456F25	SNV	NCL,missense_variant,p.Gly274Val,ENST00000356936,;NCL,missense_variant,p.Gly649Val,ENST00000322723,;AC017104.2,downstream_gene_variant,,ENST00000370380,;SNORA75,downstream_gene_variant,,ENST00000384158,;SNORD82,downstream_gene_variant,,ENST00000365530,;SNORD20,downstream_gene_variant,,ENST00000384550,;NCL,non_coding_transcript_exon_variant,,ENST00000461347,;NCL,downstream_gene_variant,,ENST00000494618,;NCL,downstream_gene_variant,,ENST00000466274,;	2187	61	89	SUCCESS
SPP2	6694	.	GRCh37	2	234959400	234959405	+	5_prime_UTR_variant	5'UTR	DEL	GAGAGA	GAGAGA	CACT	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	GAGAGA	GAGAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	61	0	ENST00000168148.3:c.-31_-26delinsCACT		p.*11*	ENST00000168148	NM_006944.2			0	.	.	.	.	.	CACT	.	protein_coding	YES	CCDS2511.1	.	INDELOCATOR*|PINDEL	.	CACATAGAGAGACACTC	NONE	.	.	.	.	.	ENSP00000168148	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000168148	Transcript	.	.	ENSG00000072080	11256	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPP24_HUMAN	SPP2	HGNC	C9J6K0_HUMAN	.	UPI0000135D66	substitution	SPP2,5_prime_UTR_variant,,ENST00000373368,;SPP2,5_prime_UTR_variant,,ENST00000168148,;SPP2,upstream_gene_variant,,ENST00000425558,;SPP2,upstream_gene_variant,,ENST00000492481,;	58-63	61	103	SUCCESS
EPT1	0	.	GRCh37	2	26597999	26597999	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	47	75	0	ENST00000260585.7:c.665T>G	p.Phe222Cys	p.F222C	ENST00000260585	NM_033505.2	222	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS46240.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATTCACTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF33,PIRSF_domain:PIRSF015665	.	.	ENSP00000260585	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000260585	Transcript	.	.	ENSG00000138018	29361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	EPT1_HUMAN	EPT1	HGNC	G1UI38_HUMAN,C9JEZ2_HUMAN,C9J9I1_HUMAN	.	UPI00003CE422	SNV	EPT1,missense_variant,p.Phe222Cys,ENST00000260585,;EPT1,intron_variant,,ENST00000447170,;EPT1,downstream_gene_variant,,ENST00000442141,;	784	75	114	SUCCESS
PSME4	23198	.	GRCh37	2	54163923	54163923	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	360	231	434	0	ENST00000404125.1:c.737A>T	p.Gln246Leu	p.Q246L	ENST00000404125	NM_014614.2	246	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33197.2	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTTGCACT	NONE	.	.	hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF0	.	.	ENSP00000384211	.	6/47	.	.	.	.	.	.	.	.	.	6/47	PASS	ENST00000404125	Transcript	.	.	ENSG00000068878	20635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	deleterious(0.05)	.	PSME4_HUMAN	PSME4	HGNC	.	.	UPI0000F3BE4A	SNV	PSME4,missense_variant,p.Gln246Leu,ENST00000404125,;PSME4,intron_variant,,ENST00000421748,;PSME4,non_coding_transcript_exon_variant,,ENST00000481518,;PSME4,missense_variant,p.Gln246Leu,ENST00000389993,;PSME4,upstream_gene_variant,,ENST00000475694,;	793	434	591	SUCCESS
XPC	7508	.	GRCh37	3	14199628	14199628	+	synonymous_variant	Silent	SNP	G	G	A	rs770336067	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	994	634	1066	2	ENST00000285021.7:c.1755C>T	p.Tyr585=	p.Y585=	ENST00000285021	NM_004628.4	585	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS46763.1	1755	RADIA|VARSCANS	.	GGGTCGTACCT	NONE	byFrequency	.	hmmpanther:PTHR12135,hmmpanther:PTHR12135:SF0,Pfam_domain:PF03835,TIGRFAM_domain:TIGR00605,Superfamily_domains:SSF54001	.	.	ENSP00000285021	.	9/16	.	.	.	.	.	.	.	.	rs770336067,COSM1419507	9/16	PASS	ENST00000285021	Transcript	.	.	ENSG00000154767	12816	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	XPC_HUMAN	XPC	HGNC	D2CPK4_HUMAN,D2CPK2_HUMAN,D2CPK1_HUMAN,D2CPJ8_HUMAN,D2CPJ3_HUMAN,D2CPJ1_HUMAN,D2CPI9_HUMAN	.	UPI000196375E	SNV	XPC,synonymous_variant,p.%3D,ENST00000449060,;XPC,synonymous_variant,p.%3D,ENST00000285021,;XPC,3_prime_UTR_variant,,ENST00000476581,;XPC,downstream_gene_variant,,ENST00000477324,;	1970	1069	1628	SUCCESS
SLC22A14	9389	.	GRCh37	3	38354541	38354541	+	synonymous_variant	Silent	SNP	G	G	A	rs765139173	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	55	87	0	ENST00000273173.4:c.996G>A	p.Glu332=	p.E332=	ENST00000273173	NM_004803.3	332	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2677.1	996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGGCCAA	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF00083,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF48,PROSITE_profiles:PS50850	.	.	ENSP00000273173	.	5/10	.	.	.	.	.	.	.	.	rs765139173	5/10	PASS	ENST00000273173	Transcript	.	.	ENSG00000144671	8495	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AE_HUMAN	SLC22A14	HGNC	F5H7H1_HUMAN	.	UPI00001AE9A8	SNV	SLC22A14,synonymous_variant,p.%3D,ENST00000273173,;SLC22A14,synonymous_variant,p.%3D,ENST00000448498,;SLC22A14,downstream_gene_variant,,ENST00000496724,;	1087	87	150	SUCCESS
CYP8B1	1582	.	GRCh37	3	42917206	42917206	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	77	50	0	ENST00000316161.4:c.103C>A	p.Leu35Met	p.L35M	ENST00000316161	NM_004391.2	35	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS2707.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGAGGGG	NONE	.	.	Prints_domain:PR00465,Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	.	.	ENSP00000318867	.	1/1	.	.	.	.	.	.	.	.	COSM1537797	1/1	PASS	ENST00000316161	Transcript	.	.	ENSG00000180432	2653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CP8B1_HUMAN	CYP8B1	HGNC	.	.	UPI000013FCE2	SNV	CYP8B1,missense_variant,p.Leu35Met,ENST00000437102,;CYP8B1,missense_variant,p.Leu35Met,ENST00000316161,;KRBOX1,intron_variant,,ENST00000426937,;KRBOX1,intron_variant,,ENST00000451200,;ACKR2,intron_variant,,ENST00000460855,;RP11-141M3.5,intron_variant,,ENST00000471537,;RP11-141M3.5,intron_variant,,ENST00000487368,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;	428	50	107	SUCCESS
DHX30	22907	.	GRCh37	3	47882619	47882619	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	61	91	0	ENST00000445061.1:c.619T>G	p.Phe207Val	p.F207V	ENST00000445061	NM_138615.2	207	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS2759.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACTTCTTG	NONE	.	.	hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934	.	.	ENSP00000405620	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000445061	Transcript	.	.	ENSG00000132153	16716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.31)	.	DHX30_HUMAN	DHX30	HGNC	H7BXY3_HUMAN	.	UPI000007112B	SNV	DHX30,missense_variant,p.Phe179Val,ENST00000348968,;DHX30,missense_variant,p.Phe168Val,ENST00000446256,;DHX30,missense_variant,p.Phe235Val,ENST00000457607,;DHX30,missense_variant,p.Phe207Val,ENST00000445061,;DHX30,upstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,3_prime_UTR_variant,,ENST00000441384,;	1026	91	160	SUCCESS
STAB1	23166	.	GRCh37	3	52535661	52535661	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	53	120	0	ENST00000321725.6:c.223G>C	p.Val75Leu	p.V75L	ENST00000321725	NM_015136.2	75	Gta/Cta	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS33768.1	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAAGTACAG	NONE	.	.	Gene3D:2gy5A03,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	3/69	.	.	.	.	.	.	.	.	.	3/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	deleterious(0.04)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Val75Leu,ENST00000321725,;STAB1,non_coding_transcript_exon_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000479355,;	299	120	175	SUCCESS
CC2D2A	57545	.	GRCh37	4	15517558	15517559	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	142	55	105	0	ENST00000424120.1:c.952dup	p.Val318GlyfsTer30	p.V318Gfs*30	ENST00000424120		316	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS47026.1	948-949	INDELOCATOR*|VARSCANI*|PINDEL	.	TACACCGGGGT	NONE	.	.	hmmpanther:PTHR20837:SF4,hmmpanther:PTHR20837	.	.	ENSP00000403465	.	10/37	.	.	.	.	.	.	.	.	.	10/37	PASS	ENST00000424120	Transcript	1	.	ENSG00000048342	29253	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C2D2A_HUMAN	CC2D2A	HGNC	D6R9V3_HUMAN	.	UPI000023731A	insertion	CC2D2A,frameshift_variant,p.Val318GlyfsTer30,ENST00000503292,;CC2D2A,frameshift_variant,p.Val318GlyfsTer30,ENST00000413206,;CC2D2A,frameshift_variant,p.Val269GlyfsTer30,ENST00000389652,;CC2D2A,frameshift_variant,p.Val318GlyfsTer30,ENST00000512702,;CC2D2A,frameshift_variant,p.Val318GlyfsTer30,ENST00000424120,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000513811,;CC2D2A,downstream_gene_variant,,ENST00000514450,;	1202-1203	105	197	SUCCESS
DCHS2	54798	.	GRCh37	4	155411569	155411569	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	31	0	ENST00000339452.1:c.939C>T	p.Ala313=	p.A313=	ENST00000339452	NM_001142552.1	313	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	.	CCDS47151.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGGCGCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF262,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000395539	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000443500	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DCHS2	HGNC	Q6V1P8_HUMAN,E9PG03_HUMAN	.	UPI0001881B4E	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000443500,;DCHS2,synonymous_variant,p.%3D,ENST00000339452,;DCHS2,synonymous_variant,p.%3D,ENST00000456341,;	1362	31	48	SUCCESS
HGFAC	3083	.	GRCh37	4	3446146	3446146	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	70	138	0	ENST00000382774.3:c.707G>A	p.Trp236Ter	p.W236*	ENST00000382774	NM_001528.2	236	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS3369.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGGTGCG	NONE	.	.	PROSITE_profiles:PS51091,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF11,PROSITE_patterns:PS01253,Pfam_domain:PF00039,SMART_domains:SM00058,PIRSF_domain:PIRSF001146	.	.	ENSP00000372224	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000382774	Transcript	.	.	ENSG00000109758	4894	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HGFA_HUMAN	HGFAC	HGNC	.	.	UPI0000000826	SNV	HGFAC,stop_gained,p.Trp236Ter,ENST00000511533,;HGFAC,stop_gained,p.Trp236Ter,ENST00000382774,;RGS12,downstream_gene_variant,,ENST00000344733,;RGS12,downstream_gene_variant,,ENST00000338806,;RGS12,downstream_gene_variant,,ENST00000509772,;HGFAC,non_coding_transcript_exon_variant,,ENST00000509689,;RGS12,downstream_gene_variant,,ENST00000504194,;HGFAC,upstream_gene_variant,,ENST00000506132,;	822	138	197	SUCCESS
KIT	3815	.	GRCh37	4	55573355	55573355	+	synonymous_variant	Silent	SNP	A	A	T	rs1253593989	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	130	222	0	ENST00000288135.5:c.1017A>T	p.Ala339=	p.A339=	ENST00000288135	NM_000222.2	339	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3496.1	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCATTCCC	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00409,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF48726	.	.	ENSP00000288135	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,synonymous_variant,p.%3D,ENST00000412167,;KIT,synonymous_variant,p.%3D,ENST00000288135,;	1114	222	317	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222700	140222700	+	synonymous_variant	Silent	SNP	C	C	T	rs781942867	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	44	76	0	ENST00000531613.1:c.1794C>T	p.Asp598=	p.D598=	ENST00000531613	NM_018911.2	598	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS54919.1	1794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACGCCGA	SITE|p.D598D|c.1794C>T|4,SITE|p.D598D|c.1794C>T|4	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	rs781942867,COSM1619623,COSM1619622	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,synonymous_variant,p.%3D,ENST00000531613,;PCDHA8,synonymous_variant,p.%3D,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000378122,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	1794	76	126	SUCCESS
ARAP3	64411	.	GRCh37	5	141036195	141036195	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754569933	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	65	106	0	ENST00000239440.4:c.3665G>A	p.Arg1222His	p.R1222H	ENST00000239440	NM_022481.5	1222	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS4266.1	3665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCACGTCGG	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9,Superfamily_domains:SSF50729	.	.	ENSP00000239440	.	27/33	.	.	.	.	.	.	.	.	rs754569933	27/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.08)	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,missense_variant,p.Arg1053His,ENST00000508305,;ARAP3,missense_variant,p.Arg1222His,ENST00000239440,;ARAP3,missense_variant,p.Arg884His,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	3731	106	196	SUCCESS
C5orf42	0	.	GRCh37	5	37224832	37224832	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	14	113	0	ENST00000425232.2:c.2302C>A	p.Leu768Ile	p.L768I	ENST00000425232	NM_023073.3	768	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS34146.2	2302	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGAATAA	NONE	.	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	.	ENSP00000389014	.	13/52	.	.	.	.	.	.	.	.	.	13/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,missense_variant,p.Leu768Ile,ENST00000508244,;C5orf42,missense_variant,p.Leu768Ile,ENST00000425232,;C5orf42,5_prime_UTR_variant,,ENST00000274258,;	2533	113	132	SUCCESS
RICTOR	253260	.	GRCh37	5	39074458	39074458	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1205555082	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	55	79	0	ENST00000357387.3:c.22C>T	p.Arg8Cys	p.R8C	ENST00000357387	NM_152756.3	8	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS34148.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCGGCCGC	NONE	.	.	hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	1/38	.	.	.	.	.	.	.	.	.	1/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Arg8Cys,ENST00000514735,;RICTOR,missense_variant,p.Arg8Cys,ENST00000357387,;RICTOR,missense_variant,p.Arg8Cys,ENST00000296782,;RICTOR,missense_variant,p.Arg8Cys,ENST00000511516,;RICTOR,non_coding_transcript_exon_variant,,ENST00000513566,;RICTOR,non_coding_transcript_exon_variant,,ENST00000510711,;	53	79	128	SUCCESS
PTPRK	5796	.	GRCh37	6	128388773	128388773	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	81	0	ENST00000368215.3:c.2048C>G	p.Ala683Gly	p.A683G	ENST00000368215		683	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS47473.1	2048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGGCAGGC	NONE	.	.	hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134	.	.	ENSP00000357196	.	12/31	.	.	.	.	.	.	.	.	COSM236211	12/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.199)	.	tolerated(0.35)	1	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	SNV	PTPRK,missense_variant,p.Ala683Gly,ENST00000532331,;PTPRK,missense_variant,p.Ala683Gly,ENST00000368226,;PTPRK,missense_variant,p.Ala683Gly,ENST00000368215,;PTPRK,missense_variant,p.Ala683Gly,ENST00000368207,;PTPRK,missense_variant,p.Ala683Gly,ENST00000368210,;PTPRK,missense_variant,p.Ala683Gly,ENST00000368227,;PTPRK,missense_variant,p.Ala683Gly,ENST00000368213,;PTPRK,upstream_gene_variant,,ENST00000415046,;RP11-103C16.2,intron_variant,,ENST00000417390,;PTPRK,non_coding_transcript_exon_variant,,ENST00000434424,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	2273	81	102	SUCCESS
CNKSR3	154043	.	GRCh37	6	154727536	154727536	+	synonymous_variant	Silent	SNP	C	C	A	rs182684451	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	69	0	ENST00000607772.1:c.1620G>T	p.Pro540=	p.P540=	ENST00000607772	NM_173515.2	540	ccG/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS5246.1	1620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGACGGTTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19,Pfam_domain:PF06663	A:0.001	.	ENSP00000475915	A:0	13/13	.	.	.	.	.	.	.	.	rs182684451	13/13	PASS	ENST00000607772	Transcript	.	A:0.0002	ENSG00000153721	23034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CNKR3_HUMAN	CNKSR3	HGNC	C9JN62_HUMAN,C9IZX4_HUMAN	.	UPI000020D0EA	SNV	CNKSR3,synonymous_variant,p.%3D,ENST00000607772,;CNKSR3,synonymous_variant,p.%3D,ENST00000433165,;CNKSR3,synonymous_variant,p.%3D,ENST00000479339,;CNKSR3,downstream_gene_variant,,ENST00000424998,;	2165	69	105	SUCCESS
OR10C1	442194	.	GRCh37	6	29408146	29408146	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	58	0	ENST00000444197.2:c.354C>T	p.Ala118=	p.A118=	ENST00000444197	NM_013941.3	118	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34364.1	354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCTATGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000419119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444197	Transcript	.	.	ENSG00000206474	8165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10C1_HUMAN	OR10C1	HGNC	.	.	UPI000014068E	SNV	OR10C1,synonymous_variant,p.%3D,ENST00000444197,;OR11A1,intron_variant,,ENST00000377149,;	1064	58	71	SUCCESS
WDR60	0	.	GRCh37	7	158734820	158734820	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	15	31	0	ENST00000407559.3:c.2983C>T	p.Gln995Ter	p.Q995*	ENST00000407559	NM_018051.4	995	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47757.1	2983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACAGCAG	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30	.	.	ENSP00000384290	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,stop_gained,p.Gln995Ter,ENST00000407559,;WDR60,stop_gained,p.Gln125Ter,ENST00000454771,;WDR60,3_prime_UTR_variant,,ENST00000444851,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;	3141	31	22	SUCCESS
PHTF2	57157	.	GRCh37	7	77558460	77558460	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745573606	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	71	133	0	ENST00000248550.7:c.1154G>T	p.Arg385Leu	p.R385L	ENST00000248550		385	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS47621.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCGCTGTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	10/18	.	.	.	.	.	.	.	.	rs745573606	10/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.15)	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,missense_variant,p.Arg351Leu,ENST00000416283,;PHTF2,missense_variant,p.Arg351Leu,ENST00000422959,;PHTF2,missense_variant,p.Arg385Leu,ENST00000248550,;PHTF2,missense_variant,p.Arg347Leu,ENST00000307305,;PHTF2,missense_variant,p.Arg347Leu,ENST00000275575,;PHTF2,missense_variant,p.Arg347Leu,ENST00000424760,;PHTF2,downstream_gene_variant,,ENST00000450574,;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;	1178	133	174	SUCCESS
CSMD3	114788	.	GRCh37	8	113348970	113348970	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	94	190	0	ENST00000297405.5:c.6930T>C	p.Phe2310=	p.F2310=	ENST00000297405	NM_198123.1	2310	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS6315.1	6930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAAAAACA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	44/71	.	.	.	.	.	.	.	.	.	44/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7175	191	242	SUCCESS
AARD	441376	.	GRCh37	8	117954908	117954908	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	9	77	0	ENST00000378279.3:c.436A>T	p.Ser146Cys	p.S146C	ENST00000378279	NM_001025357.2	146	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34935.1	436	MUTECT|MUSE	.	CCCAAAGCCCA	NONE	.	.	hmmpanther:PTHR32289:SF2,hmmpanther:PTHR32289	.	.	ENSP00000367528	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378279	Transcript	.	.	ENSG00000205002	33842	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.938)	.	deleterious(0.01)	.	AARD_HUMAN	AARD	HGNC	.	.	UPI0000419472	SNV	AARD,missense_variant,p.Ser146Cys,ENST00000378279,;AARD,non_coding_transcript_exon_variant,,ENST00000523536,;	481	77	124	SUCCESS
ADAM7	8756	.	GRCh37	8	24339683	24339683	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781236804	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	26	136	0	ENST00000175238.6:c.734C>T	p.Thr245Met	p.T245M	ENST00000175238	NM_003817.3	245	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS6045.1	734	RADIA|MUTECT|MUSE	.	TGTGACGTTGG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000175238	.	9/22	.	.	.	.	.	.	.	.	rs781236804	9/22	PASS	ENST00000175238	Transcript	.	.	ENSG00000069206	214	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	ADAM7_HUMAN	ADAM7	HGNC	.	.	UPI000013C5CC	SNV	ADAM7,missense_variant,p.Thr245Met,ENST00000175238,;ADAM7,missense_variant,p.Thr17Met,ENST00000520720,;ADAM7,missense_variant,p.Thr245Met,ENST00000380789,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	817	136	151	SUCCESS
CPA6	57094	.	GRCh37	8	68536486	68536486	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	77	0	ENST00000297770.4:c.117T>A		p.X39_splice	ENST00000297770	NM_020361.4	39	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6200.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCACTACA	NONE	.	.	hmmpanther:PTHR11705:SF18,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Superfamily_domains:SSF54897	.	.	ENSP00000297770	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,synonymous_variant,p.%3D,ENST00000518549,;CPA6,synonymous_variant,p.%3D,ENST00000297770,;CPA6,splice_region_variant,,ENST00000297769,;CPA6,synonymous_variant,p.%3D,ENST00000479862,;	333	77	98	SUCCESS
ANAPC2	29882	.	GRCh37	9	140074767	140074767	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	43	0	ENST00000323927.2:c.1756C>G	p.Gln586Glu	p.Q586E	ENST00000323927	NM_013366.3	586	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS7033.1	1756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGCTCCT	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000314004	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000323927	Transcript	.	.	ENSG00000176248	19989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.36)	.	ANC2_HUMAN	ANAPC2	HGNC	B4DJR9_HUMAN	.	UPI0000043E1B	SNV	ANAPC2,missense_variant,p.Gln586Glu,ENST00000323927,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000483432,;ANAPC2,downstream_gene_variant,,ENST00000495611,;ANAPC2,downstream_gene_variant,,ENST00000471131,;ANAPC2,upstream_gene_variant,,ENST00000493730,;ANAPC2,upstream_gene_variant,,ENST00000487917,;ANAPC2,upstream_gene_variant,,ENST00000485970,;	1761	43	75	SUCCESS
TRPM6	140803	.	GRCh37	9	77362825	77362825	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	35	0	ENST00000360774.1:c.5063A>G	p.Lys1688Arg	p.K1688R	ENST00000360774	NM_017662.4	1688	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6647.1	5063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Lys1683Arg,ENST00000449912,;TRPM6,missense_variant,p.Lys1683Arg,ENST00000361255,;TRPM6,missense_variant,p.Lys1688Arg,ENST00000360774,;TRPM6,intron_variant,,ENST00000451710,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376864,;TRPM6,intron_variant,,ENST00000376872,;	5301	35	68	SUCCESS
ZNF185	7739	.	GRCh37	X	152090763	152090763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	45	80	1	ENST00000370268.4:c.700C>T	p.Pro234Ser	p.P234S	ENST00000370268		234	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS55529.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCCACCT	NONE	.	.	hmmpanther:PTHR15468:SF2,hmmpanther:PTHR15468	.	.	ENSP00000440847	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.267)	.	tolerated(0.09)	.	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,missense_variant,p.Pro234Ser,ENST00000318504,;ZNF185,missense_variant,p.Pro234Ser,ENST00000370270,;ZNF185,missense_variant,p.Pro100Ser,ENST00000324823,;ZNF185,missense_variant,p.Pro235Ser,ENST00000449285,;ZNF185,missense_variant,p.Pro234Ser,ENST00000370268,;ZNF185,missense_variant,p.Pro72Ser,ENST00000318529,;ZNF185,missense_variant,p.Pro234Ser,ENST00000539731,;ZNF185,missense_variant,p.Pro31Ser,ENST00000447792,;ZNF185,missense_variant,p.Pro234Ser,ENST00000535861,;ZNF185,missense_variant,p.Pro52Ser,ENST00000426821,;ZNF185,missense_variant,p.Pro234Ser,ENST00000436731,;	748	81	106	SUCCESS
DMD	1756	.	GRCh37	X	32235137	32235137	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755634705	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	351	245	424	1	ENST00000357033.4:c.6334G>T	p.Asp2112Tyr	p.D2112Y	ENST00000357033	NM_004007.2	2112	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS14233.1	6334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATCATAAT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	44/79	.	.	.	.	.	.	.	.	rs755634705	44/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Asp2112Tyr,ENST00000357033,;DMD,missense_variant,p.Asp2108Tyr,ENST00000378677,;DMD,non_coding_transcript_exon_variant,,ENST00000488902,;	6541	426	596	SUCCESS
CASK	8573	.	GRCh37	X	41428980	41428980	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	873	17	637	0	ENST00000378163.1:c.1523A>C	p.Asn508Thr	p.N508T	ENST00000378163		508	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS14257.1	1523	MUTECT|MUSE	.	GTTCATTCATT	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40,PROSITE_profiles:PS50106	.	.	ENSP00000367408	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000378166	Transcript	.	.	ENSG00000147044	1497	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.076)	.	tolerated(0.33)	.	CSKP_HUMAN	CASK	HGNC	.	.	UPI000013DA91	SNV	CASK,missense_variant,p.Asn502Thr,ENST00000421587,;CASK,missense_variant,p.Asn508Thr,ENST00000442742,;CASK,missense_variant,p.Asn508Thr,ENST00000378166,;CASK,missense_variant,p.Asn508Thr,ENST00000318588,;CASK,missense_variant,p.Asn123Thr,ENST00000378179,;CASK,missense_variant,p.Asn508Thr,ENST00000378163,;CASK,missense_variant,p.Asn508Thr,ENST00000361962,;CASK,missense_variant,p.Asn508Thr,ENST00000378158,;CASK,missense_variant,p.Asn508Thr,ENST00000378154,;RNU6-1321P,downstream_gene_variant,,ENST00000390905,;CASK,non_coding_transcript_exon_variant,,ENST00000472704,;	1550	637	890	SUCCESS
ZC3H12B	340554	.	GRCh37	X	64722582	64722582	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	13	87	0	ENST00000338957.4:c.2004T>A	p.Thr668=	p.T668=	ENST00000338957	NM_001010888.3	668	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS48131.2	2004	MUTECT|MUSE	.	TCAACTGGAAC	NONE	.	.	hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876	.	.	ENSP00000340839	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000338957	Transcript	.	.	ENSG00000102053	17407	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZC3H12B	HGNC	E9PAJ6_HUMAN	.	UPI00001D7BEA	SNV	ZC3H12B,synonymous_variant,p.%3D,ENST00000423889,;ZC3H12B,synonymous_variant,p.%3D,ENST00000338957,;	2071	87	144	SUCCESS
ZC3H12B	340554	.	GRCh37	X	64722584	64722584	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	13	89	0	ENST00000338957.4:c.2006G>A	p.Gly669Glu	p.G669E	ENST00000338957	NM_001010888.3	669	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS48131.2	2006	MUTECT|MUSE	.	AACTGGAACAC	NONE	.	.	hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876	.	.	ENSP00000340839	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000338957	Transcript	.	.	ENSG00000102053	17407	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.128)	.	deleterious(0.03)	.	.	ZC3H12B	HGNC	E9PAJ6_HUMAN	.	UPI00001D7BEA	SNV	ZC3H12B,missense_variant,p.Gly658Glu,ENST00000423889,;ZC3H12B,missense_variant,p.Gly669Glu,ENST00000338957,;	2073	89	143	SUCCESS
GPR143	4935	.	GRCh37	X	9709456	9709456	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	349	209	439	0	ENST00000467482.1:c.807T>G	p.Tyr269Ter	p.Y269*	ENST00000467482		269	taT/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS14134.2	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGATAGAA	NONE	.	.	hmmpanther:PTHR15177,hmmpanther:PTHR15177:SF1,Pfam_domain:PF02101	.	.	ENSP00000417161	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000467482	Transcript	.	.	ENSG00000101850	20145	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP143_HUMAN	GPR143	HGNC	C9J9N1_HUMAN	.	UPI0000130B4E	SNV	GPR143,stop_gained,p.Tyr269Ter,ENST00000467482,;GPR143,stop_gained,p.Tyr289Ter,ENST00000380929,;GPR143,stop_gained,p.Tyr205Ter,ENST00000447366,;GPR143,downstream_gene_variant,,ENST00000431126,;GPR143,upstream_gene_variant,,ENST00000487206,;	954	439	558	SUCCESS
SYTL4	94121	.	GRCh37	X	99957070	99957070	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	43	59	0	ENST00000263033.5:c.-37T>C		p.*13*	ENST00000263033	NM_001129896.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14472.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAAAACA	NONE	.	.	.	.	.	ENSP00000390252	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000455616	Transcript	.	.	ENSG00000102362	15588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTL4_HUMAN	SYTL4	HGNC	B3KUZ4_HUMAN	.	UPI00001AE9F2	SNV	SYTL4,5_prime_UTR_variant,,ENST00000372989,;SYTL4,5_prime_UTR_variant,,ENST00000372981,;SYTL4,5_prime_UTR_variant,,ENST00000454200,;SYTL4,5_prime_UTR_variant,,ENST00000263033,;SYTL4,5_prime_UTR_variant,,ENST00000455616,;SYTL4,5_prime_UTR_variant,,ENST00000276141,;	311	59	84	SUCCESS
BTRC	8945	.	GRCh37	10	103239157	103239157	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	89	0	ENST00000370187.3:c.267C>G	p.Asn89Lys	p.N89K	ENST00000370187	NM_033637.3	89	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS7512.1	267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAACCAAGA	NONE	.	.	.	.	.	ENSP00000359206	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000370187	Transcript	1	.	ENSG00000166167	1144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious_low_confidence(0.01)	.	FBW1A_HUMAN	BTRC	HGNC	Q5T1W7_HUMAN	.	UPI00000012B5	SNV	BTRC,missense_variant,p.Asn53Lys,ENST00000408038,;BTRC,missense_variant,p.Asn71Lys,ENST00000370183,;BTRC,missense_variant,p.Asn89Lys,ENST00000370187,;BTRC,missense_variant,p.Asn48Lys,ENST00000393441,;BTRC,non_coding_transcript_exon_variant,,ENST00000475200,;BTRC,non_coding_transcript_exon_variant,,ENST00000465182,;	385	89	84	SUCCESS
ATRNL1	26033	.	GRCh37	10	117075138	117075138	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	71	0	ENST00000355044.3:c.2929T>A	p.Ser977Thr	p.S977T	ENST00000355044	NM_207303.2	977	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS7592.1	2929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTCACGG	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000347152	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	tolerated(0.18)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Ser107Thr,ENST00000526373,;ATRNL1,missense_variant,p.Ser74Thr,ENST00000423111,;ATRNL1,missense_variant,p.Ser977Thr,ENST00000355044,;ATRNL1,5_prime_UTR_variant,,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	3055	71	70	SUCCESS
JAKMIP3	282973	.	GRCh37	10	133959058	133959058	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768264283	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	89	0	ENST00000298622.4:c.1723C>T	p.Arg575Trp	p.R575W	ENST00000298622	NM_001105521.2	575	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS44494.1	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCGGAGA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935:SF5,hmmpanther:PTHR18935	.	.	ENSP00000298622	.	12/24	.	.	.	.	.	.	.	.	rs768264283	12/24	PASS	ENST00000298622	Transcript	.	.	ENSG00000188385	23523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	JKIP3_HUMAN	JAKMIP3	HGNC	.	.	UPI000157482F	SNV	JAKMIP3,missense_variant,p.Arg575Trp,ENST00000298622,;JAKMIP3,non_coding_transcript_exon_variant,,ENST00000477275,;	1861	89	85	SUCCESS
SPTY2D1	144108	.	GRCh37	11	18636133	18636133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	80	0	ENST00000336349.5:c.1688T>A	p.Leu563Gln	p.L563Q	ENST00000336349	NM_194285.2	563	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31441.1	1688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATAGGGGA	NONE	.	.	hmmpanther:PTHR22691:SF8,hmmpanther:PTHR22691	.	.	ENSP00000337991	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000336349	Transcript	.	.	ENSG00000179119	26818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	tolerated(0.14)	.	SPT2_HUMAN	SPTY2D1	HGNC	B4E223_HUMAN	.	UPI00001607F0	SNV	SPTY2D1,missense_variant,p.Leu563Gln,ENST00000336349,;SPTY2D1-AS1,downstream_gene_variant,,ENST00000501599,;SPTY2D1,downstream_gene_variant,,ENST00000543776,;SPTY2D1,non_coding_transcript_exon_variant,,ENST00000536336,;	1924	80	68	SUCCESS
SLC39A13	91252	.	GRCh37	11	47436224	47436224	+	intron_variant	Intron	SNP	G	G	A	rs368328819	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	21	0	ENST00000362021.4:c.787-104G>A		p.*263*	ENST00000362021	NM_001128225.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44592.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGAAGGG	NONE	byCluster	.	.	.	.	ENSP00000354689	.	.	.	.	.	.	.	.	.	.	rs368328819	.	PASS	ENST00000362021	Transcript	.	.	ENSG00000165915	20859	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39AD_HUMAN	SLC39A13	HGNC	K4DIB5_HUMAN	.	UPI00004564C5	SNV	SLC39A13,3_prime_UTR_variant,,ENST00000524928,;SLC39A13,intron_variant,,ENST00000533076,;SLC39A13,intron_variant,,ENST00000354884,;SLC39A13,intron_variant,,ENST00000531865,;SLC39A13,intron_variant,,ENST00000362021,;SLC39A13,downstream_gene_variant,,ENST00000526614,;SLC39A13,downstream_gene_variant,,ENST00000527091,;PSMC3,downstream_gene_variant,,ENST00000530912,;PSMC3,downstream_gene_variant,,ENST00000602866,;SLC39A13,downstream_gene_variant,,ENST00000531974,;PSMC3,downstream_gene_variant,,ENST00000298852,;SLC39A13,downstream_gene_variant,,ENST00000531419,;SLC39A13,intron_variant,,ENST00000528979,;SLC39A13,intron_variant,,ENST00000527829,;SLC39A13,upstream_gene_variant,,ENST00000524886,;SLC39A13,downstream_gene_variant,,ENST00000529740,;	.	21	19	SUCCESS
OR4C12	283093	.	GRCh37	11	50003316	50003316	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	83	0	ENST00000335238.4:c.722A>G	p.His241Arg	p.H241R	ENST00000335238	NM_001005270.2	241	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS31496.1	722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTGAGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334418	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335238	Transcript	.	.	ENSG00000221954	15168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	OR4CC_HUMAN	OR4C12	HGNC	.	.	UPI0000041E30	SNV	OR4C12,missense_variant,p.His241Arg,ENST00000335238,;	756	83	57	SUCCESS
OR52A5	390054	.	GRCh37	11	5153870	5153870	+	start_lost	Translation_Start_Site	SNP	C	C	A	rs1199724012	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	83	0	ENST00000307388.1:c.3G>T	p.Met1?	p.M1?	ENST00000307388	NM_001005160.2	1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS31373.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGCATGAT	NONE	.	.	Superfamily_domains:SSF81321,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48	.	.	ENSP00000303469	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307388	Transcript	.	.	ENSG00000171944	19580	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	deleterious(0)	.	O52A5_HUMAN	OR52A5	HGNC	.	.	UPI0000046AEF	SNV	OR52A5,start_lost,p.Met1?,ENST00000307388,;	3	83	80	SUCCESS
OR8K3	219473	.	GRCh37	11	56086555	56086555	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs139467696	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	25	91	0	ENST00000312711.1:c.773A>T	p.Tyr258Phe	p.Y258F	ENST00000312711	NM_001005202.1	258	tAc/tTc	0	.	G:0	.	G:0	.	T	Y/F	protein_coding	YES	CCDS31527.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTACGTGC	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G:0.001	.	ENSP00000323555	G:0	1/1	.	.	.	.	.	.	.	.	rs139467696	1/1	PASS	ENST00000312711	Transcript	.	G:0.0076	ENSG00000181689	15313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	G:0.0378	deleterious_low_confidence(0.01)	.	OR8K3_HUMAN	OR8K3	HGNC	.	.	UPI0000041BE7	SNV	OR8K3,missense_variant,p.Tyr258Phe,ENST00000312711,;	773	91	94	SUCCESS
CLP1	10978	.	GRCh37	11	57427365	57427365	+	synonymous_variant	Silent	SNP	G	G	A	rs758415925	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	39	88	0	ENST00000525602.1:c.417G>A	p.Val139=	p.V139=	ENST00000525602		139	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7964.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGCGTTT	NONE	.	.	HAMAP:MF_03035,hmmpanther:PTHR12755:SF6,hmmpanther:PTHR12755,Pfam_domain:PF03205,Gene3D:3.40.50.300,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540	.	.	ENSP00000434995	.	2/3	.	.	.	.	.	.	.	.	rs758415925	2/3	PASS	ENST00000533682	Transcript	.	.	ENSG00000172409	16999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLP1_HUMAN	CLP1	HGNC	E9PKV5_HUMAN,E9PJM4_HUMAN	.	UPI000012754A	SNV	CLP1,synonymous_variant,p.%3D,ENST00000533682,;CLP1,synonymous_variant,p.%3D,ENST00000525602,;CLP1,synonymous_variant,p.%3D,ENST00000529430,;CLP1,splice_region_variant,,ENST00000302731,;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;	1142	88	92	SUCCESS
SCGB1D2	10647	.	GRCh37	11	62012145	62012145	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	32	0	ENST00000244926.3:c.247A>C	p.Lys83Gln	p.K83Q	ENST00000244926	NM_006551.3	83	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS8017.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGAAAATA	NONE	.	.	Superfamily_domains:SSF48201,Pfam_domain:PF01099,Gene3D:1utgA00,hmmpanther:PTHR11332,PROSITE_profiles:PS51311	.	.	ENSP00000244926	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000244926	Transcript	.	.	ENSG00000124935	18396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	tolerated(0.12)	.	SG1D2_HUMAN	SCGB1D2	HGNC	.	.	UPI00000403D8	SNV	SCGB1D2,missense_variant,p.Lys83Gln,ENST00000244926,;RP11-703H8.9,intron_variant,,ENST00000529875,;	345	32	38	SUCCESS
NXF1	10482	.	GRCh37	11	62563804	62563804	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs367975743	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	58	135	0	ENST00000294172.2:c.1300G>T	p.Glu434Ter	p.E434*	ENST00000294172	NM_006362.4	434	Gag/Tag	0	T:0	.	.	.	.	A	E/*	protein_coding	YES	CCDS8037.1	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCGGCTA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF54427,Gene3D:3.10.450.50,Pfam_domain:PF02136,hmmpanther:PTHR10662:SF27,hmmpanther:PTHR10662,PROSITE_profiles:PS50177	.	T:0.0001	ENSP00000436679	.	16/22	.	.	.	.	.	.	.	.	rs367975743	16/22	PASS	ENST00000532297	Transcript	.	.	ENSG00000162231	8071	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXF1_HUMAN	NXF1	HGNC	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN	.	UPI00000012B9	SNV	NXF1,stop_gained,p.Glu434Ter,ENST00000532297,;NXF1,stop_gained,p.Glu477Ter,ENST00000530875,;NXF1,stop_gained,p.Glu434Ter,ENST00000294172,;NXF1,3_prime_UTR_variant,,ENST00000531709,;TMEM223,upstream_gene_variant,,ENST00000525631,;NXF1,upstream_gene_variant,,ENST00000527902,;NXF1,downstream_gene_variant,,ENST00000439713,;TMEM223,upstream_gene_variant,,ENST00000528367,;NXF1,downstream_gene_variant,,ENST00000531131,;TMEM223,upstream_gene_variant,,ENST00000307366,;NXF1,non_coding_transcript_exon_variant,,ENST00000531579,;NXF1,non_coding_transcript_exon_variant,,ENST00000533048,;TMEM223,upstream_gene_variant,,ENST00000527073,;NXF1,downstream_gene_variant,,ENST00000526163,;NXF1,non_coding_transcript_exon_variant,,ENST00000533440,;NXF1,non_coding_transcript_exon_variant,,ENST00000531872,;NXF1,upstream_gene_variant,,ENST00000533499,;NXF1,upstream_gene_variant,,ENST00000527497,;	1930	135	119	SUCCESS
SHANK2	22941	.	GRCh37	11	70333713	70333713	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	111	0	ENST00000423696.2:c.1548C>T	p.Pro516=	p.P516=	ENST00000423696		516	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	.	2688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGGGGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	32/33	.	.	.	.	.	.	.	.	.	32/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,synonymous_variant,p.%3D,ENST00000409161,;SHANK2,synonymous_variant,p.%3D,ENST00000424924,;SHANK2,synonymous_variant,p.%3D,ENST00000423696,;SHANK2,synonymous_variant,p.%3D,ENST00000294018,;SHANK2,synonymous_variant,p.%3D,ENST00000338508,;SHANK2,synonymous_variant,p.%3D,ENST00000449833,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000426687,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000449116,;	2688	111	59	SUCCESS
C2CD3	26005	.	GRCh37	11	73768566	73768566	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	45	89	0	ENST00000334126.7:c.4975G>A	p.Val1659Ile	p.V1659I	ENST00000334126	NM_001286577.1	1659	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31636.1	4975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATACTTTCC	NONE	.	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000323339	.	25/31	.	.	.	.	.	.	.	.	COSM1198653,COSM1198654	25/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.018)	.	tolerated(0.07)	1,1	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Val467Ile,ENST00000414160,;C2CD3,missense_variant,p.Val1659Ile,ENST00000313663,;C2CD3,missense_variant,p.Val1659Ile,ENST00000334126,;C2CD3,non_coding_transcript_exon_variant,,ENST00000542484,;C2CD3,missense_variant,p.Val415Ile,ENST00000442398,;	5202	89	49	SUCCESS
CCDC60	160777	.	GRCh37	12	119909909	119909909	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	121	0	ENST00000327554.2:c.281G>A	p.Arg94Lys	p.R94K	ENST00000327554	NM_178499.3	94	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS9190.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGAAATA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000333374	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000327554	Transcript	.	.	ENSG00000183273	28610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.1)	.	CCD60_HUMAN	CCDC60	HGNC	F5H5H4_HUMAN	.	UPI000019906E	SNV	CCDC60,missense_variant,p.Arg94Lys,ENST00000327554,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;CCDC60,non_coding_transcript_exon_variant,,ENST00000546345,;	746	121	76	SUCCESS
TMEM132B	114795	.	GRCh37	12	125900204	125900204	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372738030	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	83	192	0	ENST00000299308.3:c.1072C>T	p.Arg358Cys	p.R358C	ENST00000299308	NM_052907.2	358	Cgc/Tgc	0	A:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS41859.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGCCCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	A:0	ENSP00000299308	.	3/9	.	.	.	.	.	.	.	.	rs372738030	3/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	deleterious(0.05)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Arg358Cys,ENST00000299308,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	1080	192	246	SUCCESS
MRPS35	60488	.	GRCh37	12	27872748	27872748	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs370001683	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	33	0	ENST00000081029.3:c.329A>G	p.Asn110Ser	p.N110S	ENST00000081029	NM_021821.3	110	aAt/aGt	0	T:0	.	.	.	.	G	N/S	protein_coding	YES	CCDS8714.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAATTTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13490	.	T:0.0001	ENSP00000081029	.	4/8	.	.	.	.	.	.	.	.	rs370001683	4/8	PASS	ENST00000081029	Transcript	.	.	ENSG00000061794	16635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.666)	.	deleterious(0)	.	RT35_HUMAN	MRPS35	HGNC	.	.	UPI000003B0E7	SNV	MRPS35,missense_variant,p.Asn110Ser,ENST00000538315,;MRPS35,missense_variant,p.Asn110Ser,ENST00000081029,;MRPS35,intron_variant,,ENST00000542791,;MRPS35,missense_variant,p.Asn96Ser,ENST00000542199,;MRPS35,3_prime_UTR_variant,,ENST00000536569,;	400	33	27	SUCCESS
KRT84	3890	.	GRCh37	12	52779057	52779057	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	38	96	0	ENST00000257951.3:c.313C>G	p.Leu105Val	p.L105V	ENST00000257951	NM_033045.3	105	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS8825.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGACCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF129,hmmpanther:PTHR23239	.	.	ENSP00000257951	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000257951	Transcript	.	.	ENSG00000161849	6461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(0.28)	.	KRT84_HUMAN	KRT84	HGNC	.	.	UPI000013CFA1	SNV	KRT84,missense_variant,p.Leu105Val,ENST00000257951,;RP3-416H24.4,intron_variant,,ENST00000547174,;	380	96	84	SUCCESS
TSPAN19	144448	.	GRCh37	12	85409681	85409681	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1463170597	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	62	0	ENST00000532498.2:c.664C>A	p.Leu222Ile	p.L222I	ENST00000532498	NM_001100917.1	222	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS44949.1	664	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGTCCAA	NONE	.	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF211,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	.	.	ENSP00000433816	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000532498	Transcript	.	.	ENSG00000231738	31886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.613)	.	deleterious(0.03)	.	TSN19_HUMAN	TSPAN19	HGNC	F8VZ36_HUMAN	.	UPI000003F7BD	SNV	TSPAN19,missense_variant,p.Leu222Ile,ENST00000532498,;TSPAN19,intron_variant,,ENST00000525452,;TSPAN19,downstream_gene_variant,,ENST00000547403,;TSPAN19,non_coding_transcript_exon_variant,,ENST00000532628,;TSPAN19,non_coding_transcript_exon_variant,,ENST00000529820,;TSPAN19,downstream_gene_variant,,ENST00000552392,;TSPAN19,downstream_gene_variant,,ENST00000433494,;	745	62	57	SUCCESS
KITLG	4254	.	GRCh37	12	88974207	88974207	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs12424567	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	33	0	ENST00000228280.5:c.-152G>A		p.*51*	ENST00000228280	NM_000899.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31868.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCCGCA	NONE	byCluster|byHapMap	.	.	.	.	ENSP00000228280	.	1/10	.	.	.	.	.	.	.	.	rs12424567	1/10	PASS	ENST00000228280	Transcript	.	.	ENSG00000049130	6343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCF_HUMAN	KITLG	HGNC	S4R442_HUMAN,S4R384_HUMAN	.	UPI000002D482	SNV	KITLG,5_prime_UTR_variant,,ENST00000552044,;KITLG,5_prime_UTR_variant,,ENST00000228280,;KITLG,5_prime_UTR_variant,,ENST00000357116,;KITLG,5_prime_UTR_variant,,ENST00000347404,;RNU1-117P,upstream_gene_variant,,ENST00000517041,;	32	33	34	SUCCESS
TMPO	7112	.	GRCh37	12	98921777	98921777	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	105	0	ENST00000266732.4:c.393T>G	p.Pro131=	p.P131=	ENST00000266732	NM_003276.2	131	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9064.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTGGTCC	NONE	.	.	PROSITE_profiles:PS50954,hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF7,Pfam_domain:PF03020,Gene3D:1.10.720.40,SMART_domains:SM00540,Superfamily_domains:SSF63451	.	.	ENSP00000266732	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000266732	Transcript	.	.	ENSG00000120802	11875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAP2A_HUMAN	TMPO	HGNC	.	.	UPI000013D709	SNV	TMPO,synonymous_variant,p.%3D,ENST00000393053,;TMPO,synonymous_variant,p.%3D,ENST00000261210,;TMPO,synonymous_variant,p.%3D,ENST00000556029,;TMPO,synonymous_variant,p.%3D,ENST00000343315,;TMPO,synonymous_variant,p.%3D,ENST00000556678,;TMPO,synonymous_variant,p.%3D,ENST00000266732,;RN7SL179P,upstream_gene_variant,,ENST00000578359,;TMPO,non_coding_transcript_exon_variant,,ENST00000548911,;TMPO,non_coding_transcript_exon_variant,,ENST00000547214,;TMPO,non_coding_transcript_exon_variant,,ENST00000546828,;TMPO,non_coding_transcript_exon_variant,,ENST00000549938,;TMPO,non_coding_transcript_exon_variant,,ENST00000552831,;	631	105	94	SUCCESS
DIO3	1735	.	GRCh37	14	102028218	102028218	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	19	41	0	ENST00000510508.4:c.385G>A	p.Ala129Thr	p.A129T	ENST00000510508		129	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41992.2	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGCGCAC	NONE	.	.	hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF4,Gene3D:3.40.30.10,Pfam_domain:PF00837,PIRSF_domain:PIRSF500144,PIRSF_domain:PIRSF001330,Superfamily_domains:SSF52833	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.329)	.	tolerated(0.11)	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,missense_variant,p.Ala129Thr,ENST00000510508,;DIO3,missense_variant,p.Ala103Thr,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	531	41	23	SUCCESS
INF2	64423	.	GRCh37	14	105180814	105180814	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	73	0	ENST00000392634.4:c.3315G>T	p.Leu1105=	p.L1105=	ENST00000392634	NM_022489.3	1105	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9989.2	3315	MUTECT|MUSE	.	ACTCTGGGAGA	NONE	.	.	hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213	.	.	ENSP00000376410	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000392634	Transcript	1	.	ENSG00000203485	23791	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,synonymous_variant,p.%3D,ENST00000252527,;INF2,synonymous_variant,p.%3D,ENST00000330634,;INF2,synonymous_variant,p.%3D,ENST00000392634,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,downstream_gene_variant,,ENST00000474229,;INF2,downstream_gene_variant,,ENST00000477497,;INF2,downstream_gene_variant,,ENST00000480763,;	3427	73	41	SUCCESS
RAB2B	84932	.	GRCh37	14	21943061	21943061	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	8	38	0	ENST00000397762.1:c.151G>A	p.Asp51Asn	p.D51N	ENST00000397762	NM_032846.3	51	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9570.1	151	MUTECT|MUSE|VARSCANS	.	TCCATCAATGT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF359,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000380869	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000397762	Transcript	.	.	ENSG00000129472	20246	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.44)	.	RAB2B_HUMAN	RAB2B	HGNC	Q9UL31_HUMAN,E9PE37_HUMAN,B4DUD4_HUMAN	.	UPI000013316C	SNV	RAB2B,missense_variant,p.Asp51Asn,ENST00000397762,;TOX4,upstream_gene_variant,,ENST00000457430,;TOX4,upstream_gene_variant,,ENST00000405508,;TOX4,upstream_gene_variant,,ENST00000416256,;TOX4,upstream_gene_variant,,ENST00000448790,;TOX4,upstream_gene_variant,,ENST00000262709,;RAB2B,non_coding_transcript_exon_variant,,ENST00000461909,;RAB2B,non_coding_transcript_exon_variant,,ENST00000475857,;RAB2B,downstream_gene_variant,,ENST00000485996,;TOX4,upstream_gene_variant,,ENST00000494242,;RAB2B,missense_variant,p.Asp51Asn,ENST00000417141,;TOX4,upstream_gene_variant,,ENST00000455138,;TOX4,upstream_gene_variant,,ENST00000455393,;TOX4,upstream_gene_variant,,ENST00000476180,;TOX4,upstream_gene_variant,,ENST00000447695,;TOX4,upstream_gene_variant,,ENST00000487242,;	252	38	107	SUCCESS
PSMB5	5693	.	GRCh37	14	23495499	23495499	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	23	93	0	ENST00000361611.6:c.591C>T	p.Val197=	p.V197=	ENST00000361611	NM_002797.3	197	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9584.1	591	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGACCCC	NONE	.	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599:SF51,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235,Prints_domain:PR00141	.	.	ENSP00000355325	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000361611	Transcript	.	.	ENSG00000100804	9542	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSB5_HUMAN	PSMB5	HGNC	.	.	UPI000013C701	SNV	PSMB5,synonymous_variant,p.%3D,ENST00000361611,;PSMB5,synonymous_variant,p.%3D,ENST00000425762,;PSMB5,3_prime_UTR_variant,,ENST00000460922,;PSMB5,3_prime_UTR_variant,,ENST00000493471,;PSMB5,intron_variant,,ENST00000555895,;PSMB5,downstream_gene_variant,,ENST00000334454,;	855	94	187	SUCCESS
DLST	1743	.	GRCh37	14	75348623	75348623	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	10	17	0	ENST00000334220.4:c.-34C>A		p.*12*	ENST00000334220	NM_001933.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9833.1	.	RADIA|MUTECT|MUSE	.	TATATCCGGTG	NONE	.	.	.	.	.	ENSP00000335304	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000334220	Transcript	.	.	ENSG00000119689	2911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ODO2_HUMAN	DLST	HGNC	.	.	UPI00000000C0	SNV	DLST,5_prime_UTR_variant,,ENST00000334220,;DLST,5_prime_UTR_variant,,ENST00000334212,;DLST,upstream_gene_variant,,ENST00000554806,;DLST,upstream_gene_variant,,ENST00000555190,;DLST,5_prime_UTR_variant,,ENST00000556460,;DLST,5_prime_UTR_variant,,ENST00000554612,;DLST,5_prime_UTR_variant,,ENST00000238671,;DLST,5_prime_UTR_variant,,ENST00000555492,;DLST,non_coding_transcript_exon_variant,,ENST00000557012,;DLST,non_coding_transcript_exon_variant,,ENST00000556582,;DLST,upstream_gene_variant,,ENST00000555459,;DLST,upstream_gene_variant,,ENST00000556190,;DLST,upstream_gene_variant,,ENST00000555089,;DLST,upstream_gene_variant,,ENST00000555988,;DLST,upstream_gene_variant,,ENST00000555071,;	28	17	11	SUCCESS
RPS6KA5	9252	.	GRCh37	14	91338567	91338567	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	53	135	0	ENST00000261991.3:c.2260G>T	p.Glu754Ter	p.E754*	ENST00000261991	NM_004755.2	754	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS9893.1	2260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTCGGTAC	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10	.	.	ENSP00000261991	.	17/17	.	.	.	.	.	.	.	.	COSM1224256,COSM1224257	17/17	PASS	ENST00000261991	Transcript	.	.	ENSG00000100784	10434	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	KS6A5_HUMAN	RPS6KA5	HGNC	Q9UG98_HUMAN,B7Z2Y5_HUMAN	.	UPI0000031C30	SNV	RPS6KA5,stop_gained,p.Glu754Ter,ENST00000261991,;RPS6KA5,stop_gained,p.Glu675Ter,ENST00000536315,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;	2434	135	59	SUCCESS
IREB2	3658	.	GRCh37	15	78778141	78778141	+	synonymous_variant	Silent	SNP	C	C	T	rs747554380	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	20	71	0	ENST00000258886.8:c.1668C>T	p.Tyr556=	p.Y556=	ENST00000258886	NM_004136.2	556	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS10302.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTACCTCAG	NONE	.	.	hmmpanther:PTHR11670:SF31,hmmpanther:PTHR11670,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Gene3D:3.30.499.10,Superfamily_domains:SSF53732	.	.	ENSP00000258886	.	13/22	.	.	.	.	.	.	.	.	rs747554380	13/22	PASS	ENST00000258886	Transcript	.	.	ENSG00000136381	6115	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IREB2_HUMAN	IREB2	HGNC	H0YLE0_HUMAN	.	UPI00001C1F8E	SNV	IREB2,synonymous_variant,p.%3D,ENST00000258886,;RP11-650L12.1,upstream_gene_variant,,ENST00000560094,;IREB2,3_prime_UTR_variant,,ENST00000558570,;IREB2,non_coding_transcript_exon_variant,,ENST00000559676,;	1817	71	116	SUCCESS
PLIN1	5346	.	GRCh37	15	90210270	90210270	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766470624	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	54	103	0	ENST00000300055.5:c.1106C>T	p.Pro369Leu	p.P369L	ENST00000300055	NM_002666.4	369	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10353.1	1106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGGTGTG	NONE	.	.	hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF23,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881	.	.	ENSP00000300055	.	8/9	.	.	.	.	.	.	.	.	rs766470624	8/9	PASS	ENST00000300055	Transcript	1	.	ENSG00000166819	9076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	deleterious(0.01)	.	PLIN1_HUMAN	PLIN1	HGNC	.	.	UPI000013E61C	SNV	PLIN1,missense_variant,p.Pro369Leu,ENST00000430628,;PLIN1,missense_variant,p.Pro369Leu,ENST00000300055,;PLIN1,intron_variant,,ENST00000560330,;	1272	103	141	SUCCESS
RRN3P3	100131998	.	GRCh37	16	22448892	22448892	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	30	0	ENST00000551766.1:n.145G>A		p.*49*	ENST00000551766				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	ACCCCCGGGAG	NONE	.	.	.	.	.	.	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000551766	Transcript	.	.	ENSG00000257122	37620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RRN3P3	HGNC	.	.	.	SNV	CDR2,upstream_gene_variant,,ENST00000563573,;RRN3P3,non_coding_transcript_exon_variant,,ENST00000551766,;SMG1P1,intron_variant,,ENST00000446662,;SMG1P1,upstream_gene_variant,,ENST00000308347,;CDR2,upstream_gene_variant,,ENST00000569045,;SMG1P1,intron_variant,,ENST00000309865,;RRN3P3,upstream_gene_variant,,ENST00000549207,;	145	30	53	SUCCESS
RRN3P3	100131998	.	GRCh37	16	22448893	22448893	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	29	0	ENST00000551766.1:n.144C>G		p.*48*	ENST00000551766				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCCCCGGGAGC	NONE	.	.	.	.	.	.	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000551766	Transcript	.	.	ENSG00000257122	37620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RRN3P3	HGNC	.	.	.	SNV	CDR2,upstream_gene_variant,,ENST00000563573,;RRN3P3,non_coding_transcript_exon_variant,,ENST00000551766,;SMG1P1,intron_variant,,ENST00000446662,;SMG1P1,upstream_gene_variant,,ENST00000308347,;CDR2,upstream_gene_variant,,ENST00000569045,;SMG1P1,intron_variant,,ENST00000309865,;RRN3P3,upstream_gene_variant,,ENST00000549207,;	144	29	52	SUCCESS
APOBR	55911	.	GRCh37	16	28507171	28507171	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	66	116	0	ENST00000431282.1:c.809C>A	p.Ala270Glu	p.A270E	ENST00000431282		270	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS58442.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCAGAGC	NONE	.	.	hmmpanther:PTHR15964,hmmpanther:PTHR15964:SF0	.	.	ENSP00000457539	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000564831	Transcript	.	.	ENSG00000184730	24087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	tolerated(0.28)	.	APOBR_HUMAN	APOBR	HGNC	.	.	UPI000013EFFC	SNV	APOBR,missense_variant,p.Ala270Glu,ENST00000431282,;APOBR,missense_variant,p.Ala270Glu,ENST00000328423,;APOBR,missense_variant,p.Ala270Glu,ENST00000564831,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000354630,;CLN3,upstream_gene_variant,,ENST00000357857,;IL27,downstream_gene_variant,,ENST00000356897,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000357076,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000359984,;CLN3,upstream_gene_variant,,ENST00000360019,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000535392,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000568497,;	842	117	166	SUCCESS
KIF22	3835	.	GRCh37	16	29816289	29816289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	40	0	ENST00000160827.4:c.1832G>T	p.Gly611Val	p.G611V	ENST00000160827	NM_001256269.1	611	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10653.1	1832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGGCCCGA	NONE	.	.	hmmpanther:PTHR24115:SF171,hmmpanther:PTHR24115,Pfam_domain:PF12836,Gene3D:3arcU01,SMART_domains:SM00278,Superfamily_domains:SSF47781	.	.	ENSP00000160827	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000160827	Transcript	.	.	ENSG00000079616	6391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF22_HUMAN	KIF22	HGNC	Q14985_HUMAN,H3BTH5_HUMAN,H3BQB9_HUMAN	.	UPI00000012C0	SNV	KIF22,missense_variant,p.Gly557Val,ENST00000569382,;KIF22,missense_variant,p.Gly543Val,ENST00000561482,;KIF22,missense_variant,p.Gly543Val,ENST00000400751,;KIF22,missense_variant,p.Gly611Val,ENST00000160827,;MAZ,upstream_gene_variant,,ENST00000562594,;MAZ,upstream_gene_variant,,ENST00000545521,;MAZ,upstream_gene_variant,,ENST00000566906,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000568544,;MAZ,upstream_gene_variant,,ENST00000563012,;KIF22,downstream_gene_variant,,ENST00000400750,;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000219782,;MAZ,upstream_gene_variant,,ENST00000562337,;MAZ,upstream_gene_variant,,ENST00000563402,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000567444,;MAZ,upstream_gene_variant,,ENST00000322945,;AC009133.20,downstream_gene_variant,,ENST00000569039,;AC009133.15,downstream_gene_variant,,ENST00000566537,;AC009133.14,downstream_gene_variant,,ENST00000569981,;AC009133.14,downstream_gene_variant,,ENST00000563806,;KIF22,downstream_gene_variant,,ENST00000563263,;KIF22,3_prime_UTR_variant,,ENST00000568312,;KIF22,non_coding_transcript_exon_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000563666,;MAZ,upstream_gene_variant,,ENST00000565777,;	1872	40	49	SUCCESS
AXIN1	8312	.	GRCh37	16	396164	396164	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs753904293	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	32	25	0	ENST00000262320.3:c.862G>T	p.Glu288Ter	p.E288*	ENST00000262320	NM_003502.3	288	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS10405.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCGCTGT	NONE	byFrequency	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	rs753904293,COSM3716923	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Glu288Ter,ENST00000262320,;AXIN1,stop_gained,p.Glu288Ter,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1234	25	33	SUCCESS
BRD7	29117	.	GRCh37	16	50354273	50354273	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs780698234	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	0	22	41	0	ENST00000394688.3:c.1642G>T	p.Glu548Ter	p.E548*	ENST00000394688		548	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS54007.1	1645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCATCAA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	15/17	.	.	.	.	.	.	.	.	rs780698234	15/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,stop_gained,p.Glu548Ter,ENST00000394688,;BRD7,stop_gained,p.Glu6Ter,ENST00000569774,;BRD7,stop_gained,p.Glu549Ter,ENST00000394689,;BRD7,upstream_gene_variant,,ENST00000562383,;ADCY7,downstream_gene_variant,,ENST00000394697,;ADCY7,downstream_gene_variant,,ENST00000254235,;ADCY7,downstream_gene_variant,,ENST00000568930,;	1650	41	22	SUCCESS
HYDIN	54768	.	GRCh37	16	71019225	71019225	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs201708128	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	35	2	ENST00000393567.2:c.4195C>T		p.X1399_splice	ENST00000393567	NM_001270974.1	1399	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59269.1	4195	SOMATICSNIPER|VARSCANS	.	AAACAGCTTGA	NONE	byCluster	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	28/86	.	.	.	.	.	.	.	.	rs201708128	28/86	common_in_exac	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;HYDIN,splice_region_variant,,ENST00000393552,;	4346	37	19	SUCCESS
RPL23A	6147	.	GRCh37	17	27049731	27049731	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	136	0	ENST00000422514.2:c.210-10C>T		p.*70*	ENST00000422514	NM_000984.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11241.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCCTCTC	NONE	.	.	.	.	.	ENSP00000389103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422514	Transcript	.	.	ENSG00000198242	10317	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL23A_HUMAN	RPL23A	HGNC	K7EMA7_HUMAN	.	UPI0000028D48	SNV	RPL23A,intron_variant,,ENST00000472628,;RPL23A,intron_variant,,ENST00000394938,;RPL23A,intron_variant,,ENST00000394935,;RPL23A,intron_variant,,ENST00000422514,;RPL23A,intron_variant,,ENST00000496182,;RPL23A,intron_variant,,ENST00000578181,;RPL23A,intron_variant,,ENST00000355731,;RAB34,upstream_gene_variant,,ENST00000430132,;RAB34,upstream_gene_variant,,ENST00000301043,;RAB34,upstream_gene_variant,,ENST00000419712,;NEK8,upstream_gene_variant,,ENST00000579060,;RAB34,upstream_gene_variant,,ENST00000415040,;RAB34,upstream_gene_variant,,ENST00000436730,;RAB34,upstream_gene_variant,,ENST00000353676,;RAB34,upstream_gene_variant,,ENST00000447716,;NEK8,upstream_gene_variant,,ENST00000579671,;RAB34,upstream_gene_variant,,ENST00000450529,;RAB34,upstream_gene_variant,,ENST00000582934,;RAB34,upstream_gene_variant,,ENST00000583538,;TLCD1,downstream_gene_variant,,ENST00000394933,;RAB34,upstream_gene_variant,,ENST00000395242,;TLCD1,downstream_gene_variant,,ENST00000581236,;RAB34,upstream_gene_variant,,ENST00000395243,;RAB34,upstream_gene_variant,,ENST00000395245,;TLCD1,downstream_gene_variant,,ENST00000292090,;RAB34,upstream_gene_variant,,ENST00000580843,;TLCD1,downstream_gene_variant,,ENST00000580518,;RAB34,upstream_gene_variant,,ENST00000412625,;RAB34,upstream_gene_variant,,ENST00000453384,;SNORD42A,upstream_gene_variant,,ENST00000459584,;SNORD4B,upstream_gene_variant,,ENST00000459083,;SNORD4A,downstream_gene_variant,,ENST00000459174,;SNORD42B,downstream_gene_variant,,ENST00000458893,;AC010761.8,non_coding_transcript_exon_variant,,ENST00000582718,;AC010761.14,upstream_gene_variant,,ENST00000587898,;RPL23A,downstream_gene_variant,,ENST00000582736,;RPL23A,upstream_gene_variant,,ENST00000580755,;RAB34,upstream_gene_variant,,ENST00000482688,;NEK8,upstream_gene_variant,,ENST00000584342,;	.	136	112	SUCCESS
UNC45B	146862	.	GRCh37	17	33513441	33513441	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs868654026	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	59	84	0	ENST00000268876.5:c.2659G>A	p.Val887Met	p.V887M	ENST00000268876	NM_173167.2	887	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS11292.1	2659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGTGGAG	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.94)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Val806Met,ENST00000378449,;UNC45B,missense_variant,p.Val885Met,ENST00000433649,;UNC45B,missense_variant,p.Val887Met,ENST00000268876,;UNC45B,missense_variant,p.Val806Met,ENST00000591048,;UNC45B,missense_variant,p.Val885Met,ENST00000394570,;RP11-799D4.2,upstream_gene_variant,,ENST00000590144,;RP11-799D4.1,upstream_gene_variant,,ENST00000592961,;	2756	84	112	SUCCESS
ANKFN1	162282	.	GRCh37	17	54543824	54543824	+	synonymous_variant	Silent	SNP	A	A	T	rs769411481	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	72	129	0	ENST00000318698.2:c.1674A>T	p.Ser558=	p.S558=	ENST00000318698	NM_153228.2	558	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32686.1	1674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCATTTTT	NONE	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	14/17	.	.	.	.	.	.	.	.	rs769411481	14/17	PASS	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,synonymous_variant,p.%3D,ENST00000318698,;ANKFN1,synonymous_variant,p.%3D,ENST00000566473,;ANKFN1,downstream_gene_variant,,ENST00000572321,;	1709	129	150	SUCCESS
FBF1	85302	.	GRCh37	17	73910864	73910864	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	59	0	ENST00000586717.1:c.2736C>T	p.Asp912=	p.D912=	ENST00000586717		912	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS45779.1	2733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGTCCAC	NONE	.	.	.	.	.	ENSP00000324292	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,synonymous_variant,p.%3D,ENST00000319129,;FBF1,synonymous_variant,p.%3D,ENST00000592193,;FBF1,synonymous_variant,p.%3D,ENST00000389570,;FBF1,synonymous_variant,p.%3D,ENST00000586717,;FBF1,upstream_gene_variant,,ENST00000590264,;MRPL38,upstream_gene_variant,,ENST00000409963,;FBF1,non_coding_transcript_exon_variant,,ENST00000593076,;FBF1,intron_variant,,ENST00000588283,;FBF1,intron_variant,,ENST00000585990,;RP11-552F3.12,intron_variant,,ENST00000593156,;RP11-552F3.12,upstream_gene_variant,,ENST00000587556,;RP11-552F3.12,upstream_gene_variant,,ENST00000590947,;FBF1,upstream_gene_variant,,ENST00000586112,;	3007	59	49	SUCCESS
TP53	7157	.	GRCh37	17	7578502	7578503	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CAGGG	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	15	28	76	0	ENST00000269305.4:c.423_427dup	p.Val143AlafsTer29	p.V143Afs*29	ENST00000269305	NM_001126112.2	143	gtg/gCCCTGtg	0	.	.	.	.	.	CAGGG	V/ALX	protein_coding	YES	CCDS11118.1	427-428	INDELOCATOR|VARSCANI	.	GCTGCACAGGG	CODON|p.0?|c.1_1182del1182|6,CODON|p.V11A|c.32T>C|4,CODON|p.V143E|c.428T>A|6,CODON|p.V143A|c.428T>C|3,CODON|p.V143A|c.428T>C|4,CODON|p.V143A|c.428T>C|16,CODON|p.V50A|c.149T>C|4,BUFFER|p.V147fs*23|c.439delG|7,BUFFER|p.V147I|c.439G>A|6,BUFFER|p.W146*|c.438G>A|5,BUFFER|p.W146*|c.438G>A|4,BUFFER|p.W53*|c.159G>A|5,BUFFER|p.W146*|c.438G>A|34,BUFFER|p.W146*|c.438G>A|3,BUFFER|p.W14*|c.42G>A|5,BUFFER|p.W14*|c.41G>A|9,BUFFER|p.W146*|c.437G>A|3,BUFFER|p.W146*|c.437G>A|9,BUFFER|p.W53*|c.158G>A|9,BUFFER|p.W146*|c.437G>A|7,BUFFER|p.W146*|c.437G>A|9,BUFFER|p.W146*|c.437G>A|43,BUFFER|p.W146R|c.436T>C|4,BUFFER|p.L145L|c.435G>A|3,BUFFER|p.L145R|c.434T>G|7,BUFFER|p.L145P|c.434T>C|17,BUFFER|p.L145Q|c.434T>A|19,BUFFER|p.L145L|c.433C>T|4,BUFFER|p.Q144H|c.432G>C|3,BUFFER|p.Q144fs*26|c.430delC|3,BUFFER|p.Q144R|c.431A>G|5,BUFFER|p.Q144L|c.431A>T|9,BUFFER|p.Q144P|c.431A>C|5,BUFFER|p.Q12*|c.34C>T|10,BUFFER|p.Q144*|c.430C>T|3,BUFFER|p.Q144*|c.430C>T|39,BUFFER|p.Q144*|c.430C>T|10,BUFFER|p.Q51*|c.151C>T|10,BUFFER|p.Q144*|c.430C>T|9,BUFFER|p.Q144*|c.430C>T|3,BUFFER|p.V143M|c.427G>A|4,BUFFER|p.V143L|c.427G>T|3,BUFFER|p.V143M|c.427G>A|3,BUFFER|p.V143M|c.427G>A|22,BUFFER|p.V11M|c.31G>A|4,BUFFER|p.V50M|c.148G>A|4,BUFFER|p.V143M|c.427G>A|4,BUFFER|p.P142H|c.425C>A|3,BUFFER|p.P142L|c.425C>T|8,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C141W|c.423C>G|13,BUFFER|p.C141*|c.423C>A|12,BUFFER|p.C48W|c.144C>G|3,BUFFER|p.C141C|c.423C>T|4,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C9W|c.27C>G|4,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|13,BUFFER|p.C48Y|c.143G>A|13,BUFFER|p.C141F|c.422G>T|4,BUFFER|p.C9Y|c.26G>A|13,BUFFER|p.C141Y|c.422G>A|78,BUFFER|p.C141Y|c.422G>A|12,BUFFER|p.C48R|c.142T>C|8,BUFFER|p.C141G|c.421T>G|3,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.C9R|c.25T>C|8,BUFFER|p.C141R|c.421T>C|22,BUFFER|p.C141R|c.421T>C|6,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.T140T|c.420C>T|6,BUFFER|p.T140I|c.419C>T|11,BUFFER|p.K139K|c.417G>A|7,BUFFER|p.K139N|c.417G>C|6,BUFFER|p.K139N|c.417G>T|5	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	insertion	TP53,frameshift_variant,p.Val143AlafsTer?,ENST00000508793,;TP53,frameshift_variant,p.Val143AlafsTer29,ENST00000413465,;TP53,frameshift_variant,p.Val136AlafsTer?,ENST00000604348,;TP53,frameshift_variant,p.Val143AlafsTer29,ENST00000420246,;TP53,frameshift_variant,p.Val143AlafsTer29,ENST00000269305,;TP53,frameshift_variant,p.Val11AlafsTer29,ENST00000509690,;TP53,frameshift_variant,p.Val143AlafsTer29,ENST00000359597,;TP53,frameshift_variant,p.Val50AlafsTer29,ENST00000514944,;TP53,frameshift_variant,p.Val143AlafsTer29,ENST00000445888,;TP53,frameshift_variant,p.Val143AlafsTer29,ENST00000455263,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	617-618	76	43	SUCCESS
DYM	54808	.	GRCh37	18	46889584	46889584	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	7	183	0	ENST00000269445.6:c.441T>G	p.Leu147=	p.L147=	ENST00000269445	NM_017653.3	147	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11937.1	441	MUTECT|MUSE	.	TCCAAAAGATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742	.	.	ENSP00000269445	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000269445	Transcript	.	.	ENSG00000141627	21317	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYM_HUMAN	DYM	HGNC	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN	.	UPI00001AE953	SNV	DYM,synonymous_variant,p.%3D,ENST00000269445,;DYM,5_prime_UTR_variant,,ENST00000581738,;DYM,5_prime_UTR_variant,,ENST00000578396,;DYM,5_prime_UTR_variant,,ENST00000583225,;DYM,5_prime_UTR_variant,,ENST00000584983,;DYM,5_prime_UTR_variant,,ENST00000583280,;DYM,intron_variant,,ENST00000442713,;DYM,downstream_gene_variant,,ENST00000578596,;DYM,upstream_gene_variant,,ENST00000580615,;DYM,3_prime_UTR_variant,,ENST00000418472,;	899	183	190	SUCCESS
APC2	10297	.	GRCh37	19	1469147	1469167	+	inframe_deletion	In_Frame_Del	DEL	GGAGCCGGGCCCCAGGGGCCG	GGAGCCGGGCCCCAGGGGCCG	-	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	GGAGCCGGGCCCCAGGGGCCG	GGAGCCGGGCCCCAGGGGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	36	0	ENST00000233607.2:c.5849_5869del	p.Glu1950_Arg1956del	p.E1950_R1956del	ENST00000233607	NM_005883.2	1949	ccGGAGCCGGGCCCCAGGGGCCGg/ccg	0	.	.	.	.	.	-	PEPGPRGR/P	protein_coding	YES	CCDS12068.1	5847-5867	INDELOCATOR|VARSCANI	.	AGTCCCGGAGCCGGGCCCCAGGGGCCGGGCGG	NONE	.	.	Pfam_domain:PF05956,hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607	.	.	ENSP00000442954	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	2	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	deletion	APC2,inframe_deletion,p.Glu1950_Arg1956del,ENST00000233607,;APC2,inframe_deletion,p.Glu1676_Arg1682del,ENST00000238483,;APC2,inframe_deletion,p.Glu1950_Arg1956del,ENST00000535453,;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000436106,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000588871,;APC2,downstream_gene_variant,,ENST00000593146,;	7560-7580	36	15	SUCCESS
ANKLE1	126549	.	GRCh37	19	17393777	17393777	+	synonymous_variant	Silent	SNP	G	G	A	rs368355885	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	51	0	ENST00000394458.3:c.426G>A	p.Gly142=	p.G142=	ENST00000394458	NM_001278444.1	142	ggG/ggA	0	A:0	.	.	.	.	A	G	protein_coding	YES	.	426	RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGGGCAGA	NONE	byCluster	.	hmmpanther:PTHR13428:SF5,hmmpanther:PTHR13428	.	A:0.0002	ENSP00000377971	.	4/9	.	.	.	.	.	.	.	.	rs368355885	4/9	PASS	ENST00000394458	Transcript	.	.	ENSG00000160117	26812	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANKL1_HUMAN	ANKLE1	HGNC	.	.	UPI000165D67E	SNV	ANKLE1,synonymous_variant,p.%3D,ENST00000594072,;ANKLE1,synonymous_variant,p.%3D,ENST00000404085,;ANKLE1,synonymous_variant,p.%3D,ENST00000598347,;ANKLE1,synonymous_variant,p.%3D,ENST00000394458,;ANKLE1,synonymous_variant,p.%3D,ENST00000433424,;BABAM1,downstream_gene_variant,,ENST00000595632,;BABAM1,downstream_gene_variant,,ENST00000601043,;BABAM1,downstream_gene_variant,,ENST00000598188,;BABAM1,downstream_gene_variant,,ENST00000447614,;BABAM1,downstream_gene_variant,,ENST00000598567,;BABAM1,downstream_gene_variant,,ENST00000359435,;USHBP1,upstream_gene_variant,,ENST00000598309,;ANKLE1,synonymous_variant,p.%3D,ENST00000404261,;ANKLE1,non_coding_transcript_exon_variant,,ENST00000596626,;ANKLE1,non_coding_transcript_exon_variant,,ENST00000596099,;ANKLE1,non_coding_transcript_exon_variant,,ENST00000596834,;CTD-2278I10.6,downstream_gene_variant,,ENST00000596542,;BABAM1,downstream_gene_variant,,ENST00000594247,;ANKLE1,downstream_gene_variant,,ENST00000601401,;BABAM1,downstream_gene_variant,,ENST00000601232,;BABAM1,downstream_gene_variant,,ENST00000598382,;	702	51	81	SUCCESS
ARHGAP35	2909	.	GRCh37	19	47425012	47425012	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1221753325	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	63	0	ENST00000404338.3:c.3080G>A	p.Ser1027Asn	p.S1027N	ENST00000404338	NM_004491.4	1027	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS46127.1	3080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGAGCAATT	NONE	.	.	hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26	.	.	ENSP00000385720	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000404338	Transcript	.	.	ENSG00000160007	4591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.52)	.	RHG35_HUMAN	ARHGAP35	HGNC	.	.	UPI0000163F71	SNV	ARHGAP35,missense_variant,p.Ser1027Asn,ENST00000404338,;	3080	63	56	SUCCESS
ZNF17	7565	.	GRCh37	19	57931108	57931108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	21	118	0	ENST00000601808.1:c.248C>T	p.Ala83Val	p.A83V	ENST00000601808	NM_006959.2	83	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	.	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCCCAGC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402:SF166,hmmpanther:PTHR24402	.	.	ENSP00000472277	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596400	Transcript	.	.	ENSG00000269533	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.16)	.	tolerated(0.08)	.	.	AC003002.6	Clone_based_vega_gene	M0R233_HUMAN	.	UPI0002A476BC	SNV	AC003002.6,missense_variant,p.Ala95Val,ENST00000596400,;ZNF17,missense_variant,p.Ala85Val,ENST00000307658,;ZNF17,missense_variant,p.Ala83Val,ENST00000601808,;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,non_coding_transcript_exon_variant,,ENST00000595206,;ZNF17,non_coding_transcript_exon_variant,,ENST00000599867,;ZNF17,3_prime_UTR_variant,,ENST00000595162,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;	376	118	128	SUCCESS
ZSCAN22	342945	.	GRCh37	19	58846306	58846306	+	synonymous_variant	Silent	SNP	G	G	A	rs138271492	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	63	0	ENST00000329665.4:c.138G>A	p.Glu46=	p.E46=	ENST00000329665	NM_181846.2	46	gaG/gaA	0	C:0	.	.	.	.	A	E	protein_coding	YES	CCDS12975.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAGGCTGC	NONE	byCluster	.	Superfamily_domains:SSF47353,SMART_domains:SM00431,Pfam_domain:PF02023,hmmpanther:PTHR23226:SF59,hmmpanther:PTHR23226	.	C:0.0002	ENSP00000332433	.	2/3	.	.	.	.	.	.	.	.	rs138271492	2/3	PASS	ENST00000329665	Transcript	.	.	ENSG00000182318	4929	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSC22_HUMAN	ZSCAN22	HGNC	.	.	UPI00001A9CCE	SNV	ZSCAN22,synonymous_variant,p.%3D,ENST00000329665,;	285	63	50	SUCCESS
PSMA5	5686	.	GRCh37	1	109957891	109957891	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	63	0	ENST00000271308.4:c.191T>C	p.Ile64Thr	p.I64T	ENST00000271308	NM_002790.3	64	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS799.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAATGCTG	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF14,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235	.	.	ENSP00000271308	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000271308	Transcript	.	.	ENSG00000143106	9534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	deleterious(0.01)	.	PSA5_HUMAN	PSMA5	HGNC	.	.	UPI0000026E6B	SNV	PSMA5,missense_variant,p.Ile64Thr,ENST00000271308,;PSMA5,missense_variant,p.Ile6Thr,ENST00000538610,;PSMA5,non_coding_transcript_exon_variant,,ENST00000490870,;PSMA5,non_coding_transcript_exon_variant,,ENST00000491287,;PSMA5,non_coding_transcript_exon_variant,,ENST00000484563,;PSMA5,upstream_gene_variant,,ENST00000477897,;	212	63	62	SUCCESS
EXOSC10	5394	.	GRCh37	1	11128719	11128719	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	73	125	0	ENST00000376936.4:c.2533C>A	p.Gln845Lys	p.Q845K	ENST00000376936	NM_001001998.1	845	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS30584.1	2533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTGTTTAT	NONE	.	.	hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42	.	.	ENSP00000366135	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000376936	Transcript	.	.	ENSG00000171824	9138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious_low_confidence(0.01)	.	EXOSX_HUMAN	EXOSC10	HGNC	K7EJ37_HUMAN,B4DFE4_HUMAN	.	UPI0000001C90	SNV	EXOSC10,missense_variant,p.Gln845Lys,ENST00000376936,;EXOSC10,missense_variant,p.Gln820Lys,ENST00000304457,;EXOSC10,3_prime_UTR_variant,,ENST00000544779,;RP4-635E18.7,non_coding_transcript_exon_variant,,ENST00000452378,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000474216,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000490565,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000478271,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000469634,;	2583	125	134	SUCCESS
RHOC	389	.	GRCh37	1	113245243	113245243	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	62	0	ENST00000285735.2:c.350A>G	p.Asn117Ser	p.N117S	ENST00000285735		117	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS854.1	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTATTCCCC	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF100,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000285735	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000285735	Transcript	.	.	ENSG00000155366	669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.74)	.	RHOC_HUMAN	RHOC	HGNC	Q5JR08_HUMAN,Q5JR07_HUMAN,Q5JR06_HUMAN,E9PQH6_HUMAN	.	UPI0000003EF1	SNV	RHOC,missense_variant,p.Asn117Ser,ENST00000425265,;RHOC,missense_variant,p.Asn117Ser,ENST00000369632,;RHOC,missense_variant,p.Asn117Ser,ENST00000534717,;RHOC,missense_variant,p.Asn117Ser,ENST00000369638,;RHOC,missense_variant,p.Asn117Ser,ENST00000436685,;RHOC,missense_variant,p.Asn117Ser,ENST00000369636,;RHOC,missense_variant,p.Asn117Ser,ENST00000369637,;RHOC,missense_variant,p.Asn117Ser,ENST00000369633,;RHOC,missense_variant,p.Asn117Ser,ENST00000285735,;RHOC,missense_variant,p.Asn117Ser,ENST00000339083,;RHOC,missense_variant,p.Asn117Ser,ENST00000369642,;RHOC,downstream_gene_variant,,ENST00000484054,;MOV10,downstream_gene_variant,,ENST00000369644,;MOV10,downstream_gene_variant,,ENST00000369645,;RP11-426L16.10,downstream_gene_variant,,ENST00000606505,;RHOC,downstream_gene_variant,,ENST00000414971,;MOV10,downstream_gene_variant,,ENST00000413052,;MOV10,downstream_gene_variant,,ENST00000357443,;RP11-426L16.10,downstream_gene_variant,,ENST00000605933,;RP11-426L16.10,non_coding_transcript_exon_variant,,ENST00000471038,;MOV10,downstream_gene_variant,,ENST00000481711,;MOV10,downstream_gene_variant,,ENST00000482545,;MOV10,downstream_gene_variant,,ENST00000468624,;MOV10,downstream_gene_variant,,ENST00000490413,;MOV10,downstream_gene_variant,,ENST00000471160,;MOV10,downstream_gene_variant,,ENST00000488160,;MOV10,downstream_gene_variant,,ENST00000495374,;MOV10,downstream_gene_variant,,ENST00000494319,;MOV10,downstream_gene_variant,,ENST00000496577,;RHOC,3_prime_UTR_variant,,ENST00000468093,;RHOC,3_prime_UTR_variant,,ENST00000484280,;RHOC,non_coding_transcript_exon_variant,,ENST00000473074,;RHOC,downstream_gene_variant,,ENST00000527563,;RP11-426L16.10,downstream_gene_variant,,ENST00000606954,;RHOC,downstream_gene_variant,,ENST00000528831,;RHOC,downstream_gene_variant,,ENST00000478447,;RP11-426L16.10,downstream_gene_variant,,ENST00000607158,;	1560	62	74	SUCCESS
DHRS3	9249	.	GRCh37	1	12677183	12677183	+	synonymous_variant	Silent	SNP	C	C	T	rs764159622	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	88	1	ENST00000376223.2:c.171G>A	p.Glu57=	p.E57=	ENST00000376223	NM_004753.4	57	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS146.1	171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAACTCGCG	NONE	byFrequency	.	hmmpanther:PTHR24316:SF322,hmmpanther:PTHR24316,Gene3D:3.40.50.720,Pfam_domain:PF00106,PIRSF_domain:PIRSF000126,SMART_domains:SM00822,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000365397	.	1/6	.	.	.	.	.	.	.	.	rs764159622	1/6	PASS	ENST00000376223	Transcript	.	.	ENSG00000162496	17693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHRS3_HUMAN	DHRS3	HGNC	Q5SUY4_HUMAN,Q0QD44_HUMAN	.	UPI000006EE74	SNV	DHRS3,synonymous_variant,p.%3D,ENST00000376223,;RP11-474O21.5,downstream_gene_variant,,ENST00000606790,;DHRS3,upstream_gene_variant,,ENST00000482265,;DHRS3,upstream_gene_variant,,ENST00000464917,;	555	89	105	SUCCESS
VWA1	64856	.	GRCh37	1	1372593	1372593	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	50	103	0	ENST00000476993.1:c.360C>T	p.Ala120=	p.A120=	ENST00000476993	NM_022834.4	120	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS27.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCCAAGGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF7,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000417185	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000476993	Transcript	.	.	ENSG00000179403	30910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA1_HUMAN	VWA1	HGNC	J3QLP3_HUMAN	.	UPI00001D9616	SNV	VWA1,synonymous_variant,p.%3D,ENST00000495558,;VWA1,synonymous_variant,p.%3D,ENST00000476993,;VWA1,intron_variant,,ENST00000404702,;VWA1,intron_variant,,ENST00000338660,;VWA1,downstream_gene_variant,,ENST00000471398,;RP4-758J18.10,upstream_gene_variant,,ENST00000430109,;RP4-758J18.10,upstream_gene_variant,,ENST00000417917,;RP4-758J18.10,upstream_gene_variant,,ENST00000454562,;	438	103	86	SUCCESS
LCE2B	26239	.	GRCh37	1	152659435	152659435	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	23	139	0	ENST00000368780.3:c.116C>T	p.Pro39Leu	p.P39L	ENST00000368780	NM_014357.4	39	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1020.1	116	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCATGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF18,hmmpanther:PTHR23263,Pfam_domain:PF14672,Prints_domain:PR00021	.	.	ENSP00000357769	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368780	Transcript	.	.	ENSG00000159455	16610	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.35)	.	LCE2B_HUMAN	LCE2B	HGNC	.	.	UPI000006D1D2	SNV	LCE2B,missense_variant,p.Pro39Leu,ENST00000417924,;LCE2B,missense_variant,p.Pro39Leu,ENST00000368780,;	170	139	245	SUCCESS
SPTA1	6708	.	GRCh37	1	158621155	158621155	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	28	106	0	ENST00000368147.4:c.3477+2T>A		p.X1159_splice	ENST00000368147	NM_003126.2	1159		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41423.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTACCTGC	NONE	.	.	.	.	.	ENSP00000357129	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	HIGH	24/51	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,splice_donor_variant,,ENST00000368147,;	.	106	177	SUCCESS
OR10J3	441911	.	GRCh37	1	159283710	159283710	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs569041098	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	65	0	ENST00000332217.5:c.740C>T	p.Thr247Ile	p.T247I	ENST00000332217	NM_001004467.1	247	aCa/aTa	0	.	T:0	.	T:0	.	A	T/I	protein_coding	YES	CCDS30909.1	740	RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGTGAGG	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	T:0	.	ENSP00000331789	T:0	1/1	.	.	.	.	.	.	.	.	rs569041098,COSM463224	1/1	PASS	ENST00000332217	Transcript	.	T:0.0002	ENSG00000196266	14992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.248)	T:0.001	tolerated(0.12)	0,1	O10J3_HUMAN	OR10J3	HGNC	.	.	UPI0000441EEF	SNV	OR10J3,missense_variant,p.Thr247Ile,ENST00000332217,;	740	65	129	SUCCESS
GPR161	23432	.	GRCh37	1	168056873	168056873	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371331680	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	69	78	0	ENST00000367835.1:c.1274C>A	p.Pro425His	p.P425H	ENST00000367835	NM_001267610.1	425	cCc/cAc	0	T:0.0002	.	.	.	.	T	P/H	protein_coding	YES	CCDS58043.1	1334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGGTGGG	NONE	byCluster	.	.	.	T:0	ENSP00000441039	.	6/7	.	.	.	.	.	.	.	.	rs371331680	6/7	PASS	ENST00000537209	Transcript	.	.	ENSG00000143147	23694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated_low_confidence(0.34)	.	GP161_HUMAN	GPR161	HGNC	.	.	UPI0002065201	SNV	GPR161,missense_variant,p.Pro425His,ENST00000367835,;GPR161,missense_variant,p.Pro425His,ENST00000271357,;GPR161,missense_variant,p.Pro347His,ENST00000539777,;GPR161,missense_variant,p.Pro311His,ENST00000546300,;GPR161,missense_variant,p.Pro293His,ENST00000367836,;GPR161,missense_variant,p.Pro425His,ENST00000361697,;GPR161,missense_variant,p.Pro425His,ENST00000367838,;GPR161,missense_variant,p.Pro445His,ENST00000537209,;GPR161,non_coding_transcript_exon_variant,,ENST00000478868,;GPR161,downstream_gene_variant,,ENST00000493800,;	1583	78	169	SUCCESS
TNR	7143	.	GRCh37	1	175348809	175348809	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	72	0	ENST00000263525.2:c.1842G>A	p.Trp614Ter	p.W614*	ENST00000263525	NM_003285.2	614	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS1318.1	1842	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCCCACTC	BUFFER|p.L612L|c.1836C>T|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,stop_gained,p.Trp614Ter,ENST00000367674,;TNR,stop_gained,p.Trp614Ter,ENST00000263525,;	2551	72	129	SUCCESS
TDRD5	163589	.	GRCh37	1	179561931	179561931	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777704962	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	13	84	1	ENST00000294848.8:c.181C>T	p.Pro61Ser	p.P61S	ENST00000294848	NM_173533.3	61	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS55663.1	181	MUTECT|MUSE|VARSCANS	.	ACATGCCTGAT	NONE	.	.	Pfam_domain:PF12872,hmmpanther:PTHR22948,PROSITE_profiles:PS51644	.	.	ENSP00000406052	.	2/18	.	.	.	.	.	.	.	.	rs777704962	2/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Pro61Ser,ENST00000367614,;TDRD5,missense_variant,p.Pro61Ser,ENST00000444136,;TDRD5,missense_variant,p.Pro61Ser,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;	431	85	138	SUCCESS
HMCN1	83872	.	GRCh37	1	186024781	186024781	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	78	137	0	ENST00000271588.4:c.7119del	p.Asp2373GlufsTer6	p.D2373Efs*6	ENST00000271588	NM_031935.2	2373	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS30956.1	7119	INDELOCATOR*|VARSCANI*|PINDEL	.	GACTGACAAAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	45/107	.	.	.	.	.	.	.	.	COSM1254285	45/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	deletion	HMCN1,frameshift_variant,p.Asp2373GlufsTer6,ENST00000367492,;HMCN1,frameshift_variant,p.Asp2373GlufsTer6,ENST00000271588,;	7348	137	285	SUCCESS
KIF17	57576	.	GRCh37	1	21016719	21016719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	69	83	0	ENST00000247986.2:c.1343G>A	p.Arg448Lys	p.R448K	ENST00000247986		448	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS213.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCTGACG	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415	.	.	ENSP00000247986	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000247986	Transcript	.	.	ENSG00000117245	19167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	KIF17_HUMAN	KIF17	HGNC	.	.	UPI0000185F1A	SNV	KIF17,missense_variant,p.Arg448Lys,ENST00000247986,;KIF17,missense_variant,p.Arg448Lys,ENST00000400463,;KIF17,missense_variant,p.Arg348Lys,ENST00000375044,;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,upstream_gene_variant,,ENST00000498225,;KIF17,upstream_gene_variant,,ENST00000462858,;RP5-930J4.5,downstream_gene_variant,,ENST00000440621,;	1654	83	122	SUCCESS
PTPN14	5784	.	GRCh37	1	214585026	214585026	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	657	97	423	0	ENST00000366956.5:c.510+1G>A		p.X170_splice	ENST00000366956	NM_005401.4	170		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1514.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCATAG	NONE	.	.	.	.	.	ENSP00000355923	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	HIGH	5/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,splice_donor_variant,,ENST00000366956,;PTPN14,splice_donor_variant,,ENST00000543945,;	.	423	754	SUCCESS
PSEN2	5664	.	GRCh37	1	227076565	227076566	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	113	21	81	0	ENST00000366783.3:c.606dup	p.Thr203HisfsTer61	p.T203Hfs*61	ENST00000366783	NM_000447.2	201	tac/taCc	0	.	.	.	.	.	C	Y/YX	protein_coding	YES	CCDS1556.1	602-603	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTACCCCA	NONE	.	.	hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF11,Pfam_domain:PF01080,SMART_domains:SM00730	.	.	ENSP00000355747	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000366783	Transcript	.	.	ENSG00000143801	9509	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSN2_HUMAN	PSEN2	HGNC	E5RJM5_HUMAN,E5RHT1_HUMAN,E5RG63_HUMAN,E5RFW4_HUMAN,B4DVM3_HUMAN	.	UPI0000049EDA	insertion	PSEN2,frameshift_variant,p.Thr203HisfsTer61,ENST00000422240,;PSEN2,frameshift_variant,p.Thr236HisfsTer61,ENST00000366782,;PSEN2,frameshift_variant,p.Thr59HisfsTer61,ENST00000472139,;PSEN2,frameshift_variant,p.Thr236HisfsTer61,ENST00000391872,;PSEN2,frameshift_variant,p.Thr203HisfsTer61,ENST00000366783,;PSEN2,frameshift_variant,p.Thr203HisfsTer94,ENST00000340188,;PSEN2,frameshift_variant,p.Thr30HisfsTer61,ENST00000460775,;PSEN2,downstream_gene_variant,,ENST00000495488,;PSEN2,upstream_gene_variant,,ENST00000487450,;PSEN2,upstream_gene_variant,,ENST00000471728,;PSEN2,frameshift_variant,p.Thr203HisfsTer61,ENST00000496965,;	1038-1039	81	134	SUCCESS
OR2G3	81469	.	GRCh37	1	247769166	247769166	+	synonymous_variant	Silent	SNP	T	T	G	.	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	46	103	0	ENST00000320002.2:c.279T>G	p.Thr93=	p.T93=	ENST00000320002	NM_001001914.1	93	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31093.1	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTTACGG	BUFFER|p.T91T|c.273G>A|5	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000326301	.	1/1	.	.	.	.	.	.	.	.	COSM4030578,COSM4030579	1/1	PASS	ENST00000320002	Transcript	.	.	ENSG00000177476	15008	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	OR2G3_HUMAN	OR2G3	HGNC	.	.	UPI0000041CD9	SNV	OR2G3,synonymous_variant,p.%3D,ENST00000320002,;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	311	103	167	SUCCESS
OR2T10	127069	.	GRCh37	1	248756758	248756758	+	synonymous_variant	Silent	SNP	G	G	A	rs1360324084	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	24	152	0	ENST00000330500.2:c.312C>T	p.Tyr104=	p.Y104=	ENST00000330500	NM_001004693.1	104	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS31121.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGTAGAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000329210	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330500	Transcript	.	.	ENSG00000184022	19573	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O2T10_HUMAN	OR2T10	HGNC	.	.	UPI000004F23B	SNV	OR2T10,synonymous_variant,p.%3D,ENST00000330500,;Y_RNA,downstream_gene_variant,,ENST00000364732,;	343	152	198	SUCCESS
HCRTR1	3061	.	GRCh37	1	32084909	32084909	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	58	0	ENST00000373706.5:c.116A>G	p.Tyr39Cys	p.Y39C	ENST00000373706		39	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS344.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATTATCTGT	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF30,Superfamily_domains:SSF81321,Prints_domain:PR01064	.	.	ENSP00000384387	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000403528	Transcript	.	.	ENSG00000121764	4848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	OX1R_HUMAN	HCRTR1	HGNC	.	.	UPI0000038135	SNV	HCRTR1,missense_variant,p.Tyr39Cys,ENST00000373705,;HCRTR1,missense_variant,p.Tyr39Cys,ENST00000373706,;HCRTR1,missense_variant,p.Tyr39Cys,ENST00000403528,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000468521,;HCRTR1,intron_variant,,ENST00000485464,;	501	58	66	SUCCESS
TP73-AS1	57212	.	GRCh37	1	3662702	3662702	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	32	0	ENST00000452079.1:n.1185C>G		p.*395*	ENST00000452079				0	.	.	.	.	.	C	.	antisense	YES	.	.	MUTECT|MUSE	.	GGGTGGCACGG	NONE	.	.	.	.	.	.	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000452079	Transcript	.	.	ENSG00000227372	29052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TP73-AS1	HGNC	.	.	.	SNV	TP73-AS1,non_coding_transcript_exon_variant,,ENST00000418088,;TP73-AS1,non_coding_transcript_exon_variant,,ENST00000544565,;TP73-AS1,non_coding_transcript_exon_variant,,ENST00000423764,;TP73-AS1,non_coding_transcript_exon_variant,,ENST00000452079,;TP73-AS1,upstream_gene_variant,,ENST00000587071,;TP73-AS1,upstream_gene_variant,,ENST00000608600,;	1185	32	42	SUCCESS
DMRTA2	63950	.	GRCh37	1	50886996	50886996	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	42	85	0	ENST00000404795.3:c.213G>A	p.Ala71=	p.A71=	ENST00000404795	NM_032110.2	71	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44141.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGCGCGCA	NONE	.	.	PROSITE_profiles:PS50809,hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF15,PROSITE_patterns:PS40000,Pfam_domain:PF00751,Gene3D:1lpvA00,SMART_domains:SM00301,Superfamily_domains:0040609	.	.	ENSP00000383909	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000404795	Transcript	.	.	ENSG00000142700	13908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMTA2_HUMAN	DMRTA2	HGNC	.	.	UPI00003D7962	SNV	DMRTA2,synonymous_variant,p.%3D,ENST00000418121,;DMRTA2,synonymous_variant,p.%3D,ENST00000404795,;	606	85	88	SUCCESS
CDCP2	200008	.	GRCh37	1	54618578	54618578	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	47	0	ENST00000371330.1:c.18G>C	p.Gly6=	p.G6=	ENST00000371330	NM_201546.3	6	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS588.2	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCCCCCA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000360381	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000371330	Transcript	.	.	ENSG00000157211	27297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDCP2_HUMAN	CDCP2	HGNC	.	.	UPI0000458963	SNV	CDCP2,synonymous_variant,p.%3D,ENST00000371330,;RP11-446E24.4,intron_variant,,ENST00000525949,;RP11-446E24.4,3_prime_UTR_variant,,ENST00000311841,;	866	47	58	SUCCESS
CYP2J2	1573	.	GRCh37	1	60377391	60377391	+	synonymous_variant	Silent	SNP	G	G	A	rs1457562025	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	15	118	0	ENST00000371204.3:c.573C>T	p.Ile191=	p.I191=	ENST00000371204	NM_000775.2	191	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS613.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGATATT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF91,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000360247	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000371204	Transcript	.	.	ENSG00000134716	2634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2J2_HUMAN	CYP2J2	HGNC	Q96RX4_HUMAN	.	UPI00001282BF	SNV	CYP2J2,synonymous_variant,p.%3D,ENST00000371204,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000469406,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000466095,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000468257,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000492633,;	617	118	99	SUCCESS
SSX2IP	117178	.	GRCh37	1	85116058	85116058	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	88	0	ENST00000342203.3:c.1657A>T	p.Ile553Leu	p.I553L	ENST00000342203	NM_014021.3	553	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS699.1	1657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATGCAGG	NONE	.	.	hmmpanther:PTHR21736:SF12,hmmpanther:PTHR21736	.	.	ENSP00000340279	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000342203	Transcript	.	.	ENSG00000117155	16509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	ADIP_HUMAN	SSX2IP	HGNC	C9JIX7_HUMAN	.	UPI00000728CA	SNV	SSX2IP,missense_variant,p.Ile553Leu,ENST00000342203,;SSX2IP,missense_variant,p.Ile553Leu,ENST00000370612,;SSX2IP,missense_variant,p.Ile72Leu,ENST00000603677,;SSX2IP,missense_variant,p.Ile526Leu,ENST00000605755,;SSX2IP,missense_variant,p.Ile526Leu,ENST00000437941,;SSX2IP,missense_variant,p.Ile553Leu,ENST00000481102,;SSX2IP,3_prime_UTR_variant,,ENST00000476905,;SSX2IP,non_coding_transcript_exon_variant,,ENST00000490476,;SSX2IP,downstream_gene_variant,,ENST00000459708,;	1921	88	76	SUCCESS
DLGAP4	22839	.	GRCh37	20	35068157	35068157	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs575582414	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	39	0	ENST00000339266.5:c.1242G>A		p.X414_splice	ENST00000339266		414	agG/agA	0	.	A:0	.	A:0.0014	.	A	R	protein_coding	YES	CCDS13274.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGAGTCT	NONE	by1000G	.	hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353	A:0	.	ENSP00000363023	A:0	5/13	.	.	.	.	.	.	.	.	rs575582414	5/13	PASS	ENST00000373913	Transcript	.	A:0.0002	ENSG00000080845	24476	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DLGP4_HUMAN	DLGAP4	HGNC	.	.	UPI000013D34B	SNV	DLGAP4,synonymous_variant,p.%3D,ENST00000401952,;DLGAP4,synonymous_variant,p.%3D,ENST00000373907,;DLGAP4,synonymous_variant,p.%3D,ENST00000373913,;DLGAP4,synonymous_variant,p.%3D,ENST00000339266,;	1722	39	56	SUCCESS
SLC12A5	57468	.	GRCh37	20	44672561	44672561	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	6	42	0	ENST00000454036.2:c.1452C>T	p.Val484=	p.V484=	ENST00000454036	NM_001134771.1	484	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46610.1	1452	MUTECT|MUSE	.	GTCGTCCTGCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000387694	.	11/26	.	.	.	.	.	.	.	.	COSM3707805	11/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,synonymous_variant,p.%3D,ENST00000454036,;SLC12A5,synonymous_variant,p.%3D,ENST00000243964,;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;	1501	42	84	SUCCESS
TPTE	7179	.	GRCh37	21	10933874	10933874	+	synonymous_variant	Silent	SNP	C	C	T	rs755583335	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	608	111	835	0	ENST00000361285.4:c.1005G>A	p.Ala335=	p.A335=	ENST00000361285	NM_199261.2	335	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13560.2	1005	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCGCTAC	SITE|p.A335A|c.1005G>A|4,SITE|p.A317A|c.951G>A|4	byFrequency	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,Superfamily_domains:SSF52799	.	.	ENSP00000355208	.	17/24	.	.	.	.	.	.	.	.	rs755583335,COSM1724360,COSM1724359	17/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,synonymous_variant,p.%3D,ENST00000361285,;TPTE,synonymous_variant,p.%3D,ENST00000342420,;TPTE,synonymous_variant,p.%3D,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;CYCSP41,downstream_gene_variant,,ENST00000451532,;	1335	835	719	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43802304	43802304	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	66	0	ENST00000291532.3:c.822A>C	p.Leu274=	p.L274=	ENST00000291532	NM_032404.2	274	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS13686.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTAGACC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000291532	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,synonymous_variant,p.%3D,ENST00000433957,;TMPRSS3,synonymous_variant,p.%3D,ENST00000398405,;TMPRSS3,synonymous_variant,p.%3D,ENST00000380399,;TMPRSS3,synonymous_variant,p.%3D,ENST00000291532,;TMPRSS3,synonymous_variant,p.%3D,ENST00000398397,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000478680,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000476848,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;	1778	66	81	SUCCESS
C21orf2	0	.	GRCh37	21	45759084	45759084	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	42	90	0	ENST00000397956.3:c.-7G>A		p.*3*	ENST00000397956	NM_001271441.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59444.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCGCCCA	NONE	.	.	.	.	.	ENSP00000381047	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000397956	Transcript	.	.	ENSG00000160226	1260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CU002_HUMAN	C21orf2	HGNC	.	.	UPI00000738DF	SNV	C21orf2,5_prime_UTR_variant,,ENST00000397956,;C21orf2,5_prime_UTR_variant,,ENST00000325223,;C21orf2,5_prime_UTR_variant,,ENST00000339818,;AP001062.9,upstream_gene_variant,,ENST00000426029,;AP001062.7,downstream_gene_variant,,ENST00000448927,;C21orf2,upstream_gene_variant,,ENST00000496321,;C21orf2,upstream_gene_variant,,ENST00000462742,;	193	90	90	SUCCESS
TSPEAR	54084	.	GRCh37	21	45949775	45949775	+	synonymous_variant	Silent	SNP	G	G	A	rs1555915515	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	44	0	ENST00000323084.4:c.696C>T	p.Ser232=	p.S232=	ENST00000323084	NM_001272037.1	232	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13712.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGCTGGG	NONE	.	.	hmmpanther:PTHR15261	.	.	ENSP00000321987	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000323084	Transcript	.	.	ENSG00000175894	1268	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSEAR_HUMAN	TSPEAR	HGNC	.	.	UPI0000137746	SNV	TSPEAR,synonymous_variant,p.%3D,ENST00000397916,;TSPEAR,synonymous_variant,p.%3D,ENST00000323084,;C21orf90,downstream_gene_variant,,ENST00000465978,;	762	44	41	SUCCESS
POM121L9P	29774	.	GRCh37	22	24649298	24649298	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	73	0	ENST00000414583.2:n.1503C>T		p.*501*	ENST00000414583				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCCCGGA	NONE	.	.	.	.	.	.	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000414583	Transcript	.	.	ENSG00000128262	30080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	POM121L9P	HGNC	.	.	.	SNV	POM121L9P,non_coding_transcript_exon_variant,,ENST00000414583,;POM121L9P,upstream_gene_variant,,ENST00000419222,;POM121L9P,downstream_gene_variant,,ENST00000441984,;AP000354.4,upstream_gene_variant,,ENST00000402176,;	1503	73	56	SUCCESS
CSF2RB	1439	.	GRCh37	22	37325772	37325772	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	107	1	ENST00000403662.3:c.641C>T	p.Thr214Ile	p.T214I	ENST00000403662		214	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS13936.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGACCCGCC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF001956,Gene3D:2.60.40.10,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,PROSITE_profiles:PS50853	.	.	ENSP00000384053	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000403662	Transcript	.	.	ENSG00000100368	2436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	IL3RB_HUMAN	CSF2RB	HGNC	B0QY07_HUMAN	.	UPI0000128C9F	SNV	CSF2RB,missense_variant,p.Thr155Ile,ENST00000536485,;CSF2RB,missense_variant,p.Thr134Ile,ENST00000421539,;CSF2RB,missense_variant,p.Thr214Ile,ENST00000406230,;CSF2RB,missense_variant,p.Thr214Ile,ENST00000403662,;CSF2RB,missense_variant,p.Thr214Ile,ENST00000262825,;	863	108	126	SUCCESS
CACNA1I	8911	.	GRCh37	22	39994193	39994193	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	34	0	ENST00000402142.3:c.274A>G	p.Asn92Asp	p.N92D	ENST00000402142	NM_021096.3	92	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS46710.1	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGAACTGC	NONE	.	.	hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000385019	.	2/37	.	.	.	.	.	.	.	.	.	2/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0)	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,missense_variant,p.Asn92Asp,ENST00000401624,;CACNA1I,missense_variant,p.Asn92Asp,ENST00000407673,;CACNA1I,missense_variant,p.Asn92Asp,ENST00000402142,;CACNA1I,missense_variant,p.Asn92Asp,ENST00000400164,;CACNA1I,missense_variant,p.Asn92Asp,ENST00000336649,;CACNA1I,missense_variant,p.Asn92Asp,ENST00000404898,;	274	34	21	SUCCESS
EPB41L5	57669	.	GRCh37	2	120834878	120834878	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	245	452	0	ENST00000263713.5:c.700A>G	p.Met234Val	p.M234V	ENST00000263713	NM_020909.3	234	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS2130.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATATGCAT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280:SF15,hmmpanther:PTHR23280,PROSITE_patterns:PS00661,Pfam_domain:PF00373,Gene3D:2.30.29.30,SMART_domains:SM00295,Superfamily_domains:SSF50729	.	.	ENSP00000263713	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000263713	Transcript	.	.	ENSG00000115109	19819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	E41L5_HUMAN	EPB41L5	HGNC	Q53RT1_HUMAN,Q4ZG32_HUMAN	.	UPI00001B078A	SNV	EPB41L5,missense_variant,p.Met234Val,ENST00000331393,;EPB41L5,missense_variant,p.Met234Val,ENST00000443902,;EPB41L5,missense_variant,p.Met234Val,ENST00000263713,;EPB41L5,missense_variant,p.Met234Val,ENST00000452780,;EPB41L5,missense_variant,p.Met234Val,ENST00000443124,;EPB41L5,downstream_gene_variant,,ENST00000466241,;	914	453	378	SUCCESS
CCDC74B	91409	.	GRCh37	2	130897517	130897517	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	29	168	0	ENST00000310463.6:c.954C>T	p.Asp318=	p.D318=	ENST00000310463	NM_207310.2	318	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS2155.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGTCCCT	NONE	.	.	Pfam_domain:PF14917	.	.	ENSP00000308873	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000310463	Transcript	.	.	ENSG00000152076	25267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,synonymous_variant,p.%3D,ENST00000409943,;CCDC74B,synonymous_variant,p.%3D,ENST00000392984,;CCDC74B,synonymous_variant,p.%3D,ENST00000310463,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000498526,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,downstream_gene_variant,,ENST00000434929,;CCDC74B,downstream_gene_variant,,ENST00000423263,;MED15P9,downstream_gene_variant,,ENST00000424716,;	1092	168	126	SUCCESS
ZEB2	9839	.	GRCh37	2	145156639	145156639	+	synonymous_variant	Silent	SNP	G	G	A	rs1356643964	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	132	0	ENST00000409487.3:c.2115C>T	p.Ser705=	p.S705=	ENST00000409487		705	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2186.1	2115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGGACCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2,SMART_domains:SM00389	.	.	ENSP00000454157	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,synonymous_variant,p.%3D,ENST00000539609,;ZEB2,synonymous_variant,p.%3D,ENST00000409487,;ZEB2,synonymous_variant,p.%3D,ENST00000303660,;ZEB2,synonymous_variant,p.%3D,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,downstream_gene_variant,,ENST00000497268,;	3300	132	112	SUCCESS
SLC11A1	6556	.	GRCh37	2	219249062	219249062	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	10	79	0	ENST00000233202.6:c.247C>T	p.Gln83Ter	p.Q83*	ENST00000233202	NM_000578.3	83	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS2415.1	247	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCAGGCT	NONE	.	.	HAMAP:MF_00221,hmmpanther:PTHR11706:SF36,hmmpanther:PTHR11706,Pfam_domain:PF01566,TIGRFAM_domain:TIGR01197	.	.	ENSP00000233202	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000233202	Transcript	.	.	ENSG00000018280	10907	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRAM1_HUMAN	SLC11A1	HGNC	Q8NDV6_HUMAN	.	UPI0000130520	SNV	SLC11A1,stop_gained,p.Gln83Ter,ENST00000233202,;SLC11A1,5_prime_UTR_variant,,ENST00000539932,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000486451,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000473367,;SLC11A1,intron_variant,,ENST00000481524,;SLC11A1,stop_gained,p.Gln83Ter,ENST00000354352,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000471875,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000492413,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000475225,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000494322,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000468221,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000483487,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000469449,;SLC11A1,intron_variant,,ENST00000469799,;SLC11A1,intron_variant,,ENST00000465984,;SLC11A1,upstream_gene_variant,,ENST00000460592,;	587	79	91	SUCCESS
EPHA4	2043	.	GRCh37	2	222347320	222347320	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756184907	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	26	82	0	ENST00000281821.2:c.1070G>A	p.Arg357His	p.R357H	ENST00000281821	NM_004438.3	357	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2447.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGGCCA	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000281821	.	5/18	.	.	.	.	.	.	.	.	rs756184907,COSM269110,COSM3782129,COSM3782128,COSM269111	5/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	probably_damaging(0.991)	.	deleterious(0)	0,1,1,1,1	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Arg357His,ENST00000281821,;EPHA4,missense_variant,p.Arg94His,ENST00000441679,;EPHA4,missense_variant,p.Arg357His,ENST00000409854,;EPHA4,missense_variant,p.Arg61His,ENST00000443796,;EPHA4,missense_variant,p.Arg306His,ENST00000392071,;EPHA4,missense_variant,p.Arg357His,ENST00000409938,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	1112	82	107	SUCCESS
EPHA4	2043	.	GRCh37	2	222436897	222436897	+	synonymous_variant	Silent	SNP	C	C	T	rs761616774	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	69	0	ENST00000281821.2:c.72G>A	p.Arg24=	p.R24=	ENST00000281821	NM_004438.3	24	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2447.1	72	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACCCTGGA	NONE	.	.	PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416	.	.	ENSP00000281821	.	1/18	.	.	.	.	.	.	.	.	rs761616774	1/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,synonymous_variant,p.%3D,ENST00000409854,;EPHA4,synonymous_variant,p.%3D,ENST00000434266,;EPHA4,synonymous_variant,p.%3D,ENST00000541600,;EPHA4,synonymous_variant,p.%3D,ENST00000409938,;EPHA4,synonymous_variant,p.%3D,ENST00000281821,;EPHA4,synonymous_variant,p.%3D,ENST00000443796,;EPHA4,5_prime_UTR_variant,,ENST00000392071,;EPHA4,upstream_gene_variant,,ENST00000419964,;CTD-2308L22.1,upstream_gene_variant,,ENST00000609776,;EPHA4,synonymous_variant,p.%3D,ENST00000415749,;	114	69	108	SUCCESS
PPP1R7	5510	.	GRCh37	2	242092994	242092994	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	47	0	ENST00000234038.6:c.156G>C	p.Glu52Asp	p.E52D	ENST00000234038	NM_002712.1	52	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS2546.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGGAGCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000234038	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000234038	Transcript	.	.	ENSG00000115685	9295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.27)	.	PP1R7_HUMAN	PPP1R7	HGNC	.	.	UPI000006E65A	SNV	PPP1R7,missense_variant,p.Glu52Asp,ENST00000234038,;PPP1R7,missense_variant,p.Glu33Asp,ENST00000450367,;PPP1R7,missense_variant,p.Glu52Asp,ENST00000406106,;PPP1R7,missense_variant,p.Glu52Asp,ENST00000404405,;PPP1R7,missense_variant,p.Glu36Asp,ENST00000438799,;PPP1R7,missense_variant,p.Glu52Asp,ENST00000439916,;PPP1R7,missense_variant,p.Glu52Asp,ENST00000407025,;PPP1R7,missense_variant,p.Glu61Asp,ENST00000427172,;PPP1R7,intron_variant,,ENST00000402734,;PPP1R7,intron_variant,,ENST00000272983,;PPP1R7,intron_variant,,ENST00000423280,;PPP1R7,intron_variant,,ENST00000401987,;PASK,upstream_gene_variant,,ENST00000405260,;PASK,upstream_gene_variant,,ENST00000234040,;PASK,upstream_gene_variant,,ENST00000358649,;PASK,upstream_gene_variant,,ENST00000415234,;PASK,upstream_gene_variant,,ENST00000452907,;PASK,upstream_gene_variant,,ENST00000403638,;PASK,upstream_gene_variant,,ENST00000539818,;PPP1R7,upstream_gene_variant,,ENST00000485630,;PPP1R7,upstream_gene_variant,,ENST00000467159,;PPP1R7,non_coding_transcript_exon_variant,,ENST00000498170,;PPP1R7,non_coding_transcript_exon_variant,,ENST00000473017,;PPP1R7,intron_variant,,ENST00000493374,;PASK,upstream_gene_variant,,ENST00000437780,;	630	47	71	SUCCESS
RASGRP3	25780	.	GRCh37	2	33764196	33764196	+	synonymous_variant	Silent	SNP	G	G	A	rs1250835895	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	125	300	0	ENST00000402538.3:c.1197G>A	p.Val399=	p.V399=	ENST00000402538	NM_170672.2	399	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46256.1	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGGTACC	NONE	.	.	Superfamily_domains:0041591,hmmpanther:PTHR23113:SF178,hmmpanther:PTHR23113	.	.	ENSP00000384192	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000403687	Transcript	.	.	ENSG00000152689	14545	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRP3_HUMAN	RASGRP3	HGNC	C9K0P4_HUMAN,C9JWP0_HUMAN,C9JSS2_HUMAN,C9J9C9_HUMAN,C9IYA5_HUMAN	.	UPI0000074694	SNV	RASGRP3,synonymous_variant,p.%3D,ENST00000407811,;RASGRP3,synonymous_variant,p.%3D,ENST00000402538,;RASGRP3,synonymous_variant,p.%3D,ENST00000403687,;RASGRP3,upstream_gene_variant,,ENST00000482731,;RASGRP3,synonymous_variant,p.%3D,ENST00000419772,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000468856,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000490150,;	1937	300	264	SUCCESS
LOXL3	84695	.	GRCh37	2	74776519	74776519	+	synonymous_variant	Silent	SNP	C	C	T	rs1250970750	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	59	0	ENST00000264094.3:c.669G>A	p.Lys223=	p.K223=	ENST00000264094	NM_032603.2	223	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS1953.1	669	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTCTTTTC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF11,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000264094	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000264094	Transcript	.	.	ENSG00000115318	13869	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LOXL3_HUMAN	LOXL3	HGNC	Q8N505_HUMAN,Q53TY1_HUMAN,Q2EHP2_HUMAN,C9J5M1_HUMAN	.	UPI0000044959	SNV	LOXL3,missense_variant,p.Glu24Lys,ENST00000420535,;LOXL3,synonymous_variant,p.%3D,ENST00000413469,;LOXL3,synonymous_variant,p.%3D,ENST00000264094,;LOXL3,synonymous_variant,p.%3D,ENST00000409249,;LOXL3,synonymous_variant,p.%3D,ENST00000409549,;LOXL3,intron_variant,,ENST00000409986,;DOK1,intron_variant,,ENST00000409429,;LOXL3,intron_variant,,ENST00000393937,;DOK1,upstream_gene_variant,,ENST00000233668,;LOXL3,non_coding_transcript_exon_variant,,ENST00000481835,;LOXL3,non_coding_transcript_exon_variant,,ENST00000484369,;DOK1,intron_variant,,ENST00000485132,;DOK1,upstream_gene_variant,,ENST00000488613,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;	741	59	68	SUCCESS
CCDC80	151887	.	GRCh37	3	112324389	112324389	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	26	107	0	ENST00000206423.3:c.2728G>C	p.Gly910Arg	p.G910R	ENST00000206423	NM_199512.1	910	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS2968.1	2728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCCCAGTG	NONE	.	.	hmmpanther:PTHR19325	.	.	ENSP00000206423	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Gly188Arg,ENST00000479368,;CCDC80,missense_variant,p.Gly910Arg,ENST00000206423,;CCDC80,missense_variant,p.Gly910Arg,ENST00000439685,;CCDC80,downstream_gene_variant,,ENST00000461431,;RP11-572C15.6,upstream_gene_variant,,ENST00000610103,;	3682	107	124	SUCCESS
C3orf30	0	.	GRCh37	3	118867141	118867141	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1363537142	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	283	155	369	0	ENST00000295622.1:c.1513G>A	p.Glu505Lys	p.E505K	ENST00000295622	NM_152539.2	505	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2984.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGAAAAA	NONE	.	.	hmmpanther:PTHR21847:SF1,hmmpanther:PTHR21847,Superfamily_domains:SSF47391	.	.	ENSP00000295622	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000295622	Transcript	.	.	ENSG00000163424	26553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	deleterious(0)	.	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,stop_gained,p.Trp272Ter,ENST00000473121,;C3orf30,missense_variant,p.Glu505Lys,ENST00000295622,;C3orf30,intron_variant,,ENST00000492792,;RP11-484M3.5,intron_variant,,ENST00000490594,;C3orf30,intron_variant,,ENST00000460150,;IGSF11,upstream_gene_variant,,ENST00000425327,;IGSF11,upstream_gene_variant,,ENST00000354673,;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Glu505Lys,ENST00000494105,;	1553	370	439	SUCCESS
CD80	941	.	GRCh37	3	119263423	119263423	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	34	102	0	ENST00000264246.3:c.392T>C	p.Leu131Pro	p.L131P	ENST00000264246	NM_005191.3	131	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2989.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAGGTGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR25462:SF214,hmmpanther:PTHR25462,PROSITE_profiles:PS50835	.	.	ENSP00000264246	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000264246	Transcript	.	.	ENSG00000121594	1700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.01)	.	CD80_HUMAN	CD80	HGNC	Q6LCB7_HUMAN,A0N0P2_HUMAN	.	UPI000000D9F5	SNV	CD80,missense_variant,p.Leu131Pro,ENST00000383668,;CD80,missense_variant,p.Leu131Pro,ENST00000264246,;CD80,missense_variant,p.Leu131Pro,ENST00000383669,;CD80,missense_variant,p.Leu131Pro,ENST00000478182,;CD80,non_coding_transcript_exon_variant,,ENST00000463729,;	755	102	93	SUCCESS
SETMAR	6419	.	GRCh37	3	4354904	4354904	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759135878	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	70	0	ENST00000358065.4:c.479C>T	p.Pro160Leu	p.P160L	ENST00000358065	NM_006515.3	160	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2563.2	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACCGAAAG	NONE	byFrequency	.	PROSITE_profiles:PS50280,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000373354	.	2/3	.	.	.	.	.	.	.	.	rs759135878	2/3	PASS	ENST00000358065	Transcript	.	.	ENSG00000170364	10762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious_low_confidence(0)	.	SETMR_HUMAN	SETMAR	HGNC	.	.	UPI000066D9D9	SNV	SETMAR,missense_variant,p.Pro160Leu,ENST00000358065,;SETMAR,missense_variant,p.Pro160Leu,ENST00000430981,;SETMAR,missense_variant,p.Pro160Leu,ENST00000425863,;SETMAR,intron_variant,,ENST00000358950,;SUMF1,intron_variant,,ENST00000534863,;SETMAR,intron_variant,,ENST00000490691,;SETMAR,downstream_gene_variant,,ENST00000462115,;SETMAR,missense_variant,p.Pro160Leu,ENST00000413809,;SUMF1,intron_variant,,ENST00000448413,;SETMAR,intron_variant,,ENST00000425046,;	546	70	76	SUCCESS
TBC1D19	55296	.	GRCh37	4	26719629	26719629	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	59	0	ENST00000264866.4:c.1029A>G	p.Ser343=	p.S343=	ENST00000264866	NM_018317.2	343	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS3439.1	1029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCATACAT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR16110,SMART_domains:SM00164	.	.	ENSP00000264866	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000264866	Transcript	.	.	ENSG00000109680	25624	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC19_HUMAN	TBC1D19	HGNC	.	.	UPI000004A0E3	SNV	TBC1D19,synonymous_variant,p.%3D,ENST00000511789,;TBC1D19,synonymous_variant,p.%3D,ENST00000264866,;TBC1D19,non_coding_transcript_exon_variant,,ENST00000502873,;	1307	59	39	SUCCESS
MMRN1	22915	.	GRCh37	4	90856478	90856478	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	68	159	0	ENST00000264790.2:c.1647A>G	p.Leu549=	p.L549=	ENST00000264790	NM_007351.2	549	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3635.1	1647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTACATGA	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,synonymous_variant,p.%3D,ENST00000394980,;MMRN1,synonymous_variant,p.%3D,ENST00000508372,;MMRN1,synonymous_variant,p.%3D,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	1966	159	70	SUCCESS
SLC6A19	340024	.	GRCh37	5	1219041	1219041	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	34	0	ENST00000304460.10:c.1197C>G	p.Ala399=	p.A399=	ENST00000304460	NM_001003841.2	399	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS34130.1	1197	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCTTCAT	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000305302	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000304460	Transcript	1	.	ENSG00000174358	27960	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S6A19_HUMAN	SLC6A19	HGNC	B3KVZ8_HUMAN	.	UPI0000401AF8	SNV	SLC6A19,synonymous_variant,p.%3D,ENST00000304460,;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;	1253	34	89	SUCCESS
DDX46	9879	.	GRCh37	5	134121267	134121267	+	synonymous_variant	Silent	SNP	C	C	T	rs1257341148	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	85	0	ENST00000354283.4:c.1455C>T	p.Ile485=	p.I485=	ENST00000354283		485	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS34240.1	1455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCAGTGA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000346236	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,synonymous_variant,p.%3D,ENST00000354283,;DDX46,synonymous_variant,p.%3D,ENST00000452510,;DDX46,non_coding_transcript_exon_variant,,ENST00000509178,;DDX46,synonymous_variant,p.%3D,ENST00000507392,;DDX46,3_prime_UTR_variant,,ENST00000513592,;DDX46,downstream_gene_variant,,ENST00000513987,;DDX46,downstream_gene_variant,,ENST00000505592,;DDX46,upstream_gene_variant,,ENST00000503946,;	1590	85	87	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140308948	140308948	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	61	151	0	ENST00000253807.2:c.2433+38G>T		p.*811*	ENST00000253807	NM_018898.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4241.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGAGATG	NONE	.	.	.	.	.	ENSP00000253807	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,3_prime_UTR_variant,,ENST00000409700,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	.	151	141	SUCCESS
PCDHGA11	56105	.	GRCh37	5	140802419	140802419	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	108	0	ENST00000398587.2:c.1625C>T	p.Pro542Leu	p.P542L	ENST00000398587	NM_032092.1	542	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47294.1	1625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCCCTCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF84,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381589	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398587	Transcript	.	.	ENSG00000253873	8698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.495)	.	deleterious_low_confidence(0)	.	PCDGB_HUMAN	PCDHGA11	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000739DC	SNV	PCDHGA11,missense_variant,p.Pro542Leu,ENST00000398587,;PCDHGA11,missense_variant,p.Pro542Leu,ENST00000518882,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,upstream_gene_variant,,ENST00000502926,;PCDHGB8P,upstream_gene_variant,,ENST00000507007,;	1658	108	107	SUCCESS
SH3TC2	79628	.	GRCh37	5	148408005	148408005	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	55	0	ENST00000515425.1:c.1290G>T	p.Glu430Asp	p.E430D	ENST00000515425	NM_024577.3	430	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4293.1	1290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.16)	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,missense_variant,p.Glu430Asp,ENST00000515425,;SH3TC2,missense_variant,p.Glu423Asp,ENST00000512049,;SH3TC2,missense_variant,p.Glu315Asp,ENST00000394358,;SH3TC2,5_prime_UTR_variant,,ENST00000538184,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000513340,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,missense_variant,p.Glu430Asp,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	1392	55	41	SUCCESS
MARVELD2	153562	.	GRCh37	5	68715921	68715921	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	59	138	1	ENST00000325631.5:c.709G>C	p.Gly237Arg	p.G237R	ENST00000325631	NM_001038603.2	237	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS34175.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTTGGTGGA	NONE	.	.	Pfam_domain:PF01284,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3,PROSITE_profiles:PS51225,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000323264	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.04)	.	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,missense_variant,p.Gly237Arg,ENST00000512803,;MARVELD2,missense_variant,p.Gly237Arg,ENST00000436532,;MARVELD2,missense_variant,p.Gly237Arg,ENST00000454295,;MARVELD2,missense_variant,p.Gly237Arg,ENST00000325631,;MARVELD2,missense_variant,p.Gly237Arg,ENST00000413223,;MARVELD2,downstream_gene_variant,,ENST00000515844,;	783	139	117	SUCCESS
HMGCR	3156	.	GRCh37	5	74646733	74646733	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	16	113	0	ENST00000287936.4:c.900A>T	p.Arg300Ser	p.R300S	ENST00000287936	NM_000859.2	300	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4027.1	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGAATTGA	NONE	.	.	hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,TIGRFAM_domain:TIGR00920	.	.	ENSP00000287936	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000287936	Transcript	1	.	ENSG00000113161	5006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	tolerated(0.38)	.	HMDH_HUMAN	HMGCR	HGNC	D6RIW0_HUMAN,C9JKX7_HUMAN	.	UPI000012C9E2	SNV	HMGCR,missense_variant,p.Arg300Ser,ENST00000343975,;HMGCR,missense_variant,p.Arg300Ser,ENST00000287936,;HMGCR,missense_variant,p.Arg300Ser,ENST00000511206,;HMGCR,non_coding_transcript_exon_variant,,ENST00000504466,;HMGCR,upstream_gene_variant,,ENST00000508070,;HMGCR,upstream_gene_variant,,ENST00000515776,;	1056	113	89	SUCCESS
ARID1B	57492	.	GRCh37	6	157222615	157222615	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1554265306	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	33	0	ENST00000346085.5:c.1882C>T	p.Gln628Ter	p.Q628*	ENST00000346085	NM_020732.3	628	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS55072.1	1882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGCAGTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,stop_gained,p.Gln37Ter,ENST00000319584,;ARID1B,stop_gained,p.Gln615Ter,ENST00000367148,;ARID1B,stop_gained,p.Gln615Ter,ENST00000350026,;ARID1B,stop_gained,p.Gln114Ter,ENST00000414678,;ARID1B,stop_gained,p.Gln557Ter,ENST00000275248,;ARID1B,stop_gained,p.Gln628Ter,ENST00000346085,;	1883	33	30	SUCCESS
SYNJ2	8871	.	GRCh37	6	158490577	158490577	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	48	0	ENST00000355585.4:c.1812G>T	p.Lys604Asn	p.K604N	ENST00000355585	NM_001178088.1	604	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS5254.1	1812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAGAAGAT	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	.	.	ENSP00000347792	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000355585	Transcript	.	.	ENSG00000078269	11504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	deleterious(0.01)	.	SYNJ2_HUMAN	SYNJ2	HGNC	B4DLC4_HUMAN	.	UPI000006E2F8	SNV	SYNJ2,missense_variant,p.Lys604Asn,ENST00000367121,;SYNJ2,missense_variant,p.Lys604Asn,ENST00000355585,;SYNJ2,missense_variant,p.Lys604Asn,ENST00000367122,;SYNJ2,downstream_gene_variant,,ENST00000449859,;	1887	48	50	SUCCESS
PRRC2A	7916	.	GRCh37	6	31604316	31604316	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	59	0	ENST00000376007.4:c.5865T>C	p.Asp1955=	p.D1955=	ENST00000376007	NM_080686.2	1955	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS4708.1	5865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGATTTTTA	NONE	.	.	hmmpanther:PTHR14038	.	.	ENSP00000365201	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000376033	Transcript	.	.	ENSG00000204469	13918	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRC2A_HUMAN	PRRC2A	HGNC	.	.	UPI000020E56F	SNV	PRRC2A,synonymous_variant,p.%3D,ENST00000376033,;PRRC2A,synonymous_variant,p.%3D,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000375976,;BAG6,downstream_gene_variant,,ENST00000362049,;BAG6,downstream_gene_variant,,ENST00000375964,;BAG6,downstream_gene_variant,,ENST00000211379,;BAG6,downstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000404765,;BAG6,downstream_gene_variant,,ENST00000422948,;BAG6,downstream_gene_variant,,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000464126,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000462617,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000492691,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000487839,;PRRC2A,upstream_gene_variant,,ENST00000482441,;PRRC2A,downstream_gene_variant,,ENST00000487089,;PRRC2A,downstream_gene_variant,,ENST00000469501,;PRRC2A,downstream_gene_variant,,ENST00000484787,;BAG6,downstream_gene_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000460302,;	6099	60	63	SUCCESS
SLC12A9	56996	.	GRCh37	7	100454563	100454563	+	synonymous_variant	Silent	SNP	G	G	A	rs767146725	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	25	0	ENST00000354161.3:c.522G>A	p.Leu174=	p.L174=	ENST00000354161	NM_020246.3	174	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5707.1	522	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCTGGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF52,hmmpanther:PTHR11827,Pfam_domain:PF00324	.	.	ENSP00000275730	.	5/14	.	.	.	.	.	.	.	.	rs767146725	5/14	PASS	ENST00000354161	Transcript	.	.	ENSG00000146828	17435	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S12A9_HUMAN	SLC12A9	HGNC	D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN	.	UPI000006CD28	SNV	SLC12A9,synonymous_variant,p.%3D,ENST00000354161,;SLC12A9,synonymous_variant,p.%3D,ENST00000275729,;SLC12A9,synonymous_variant,p.%3D,ENST00000415287,;SLC12A9,synonymous_variant,p.%3D,ENST00000428758,;SLC12A9,synonymous_variant,p.%3D,ENST00000540482,;SLC12A9,5_prime_UTR_variant,,ENST00000418037,;SLC12A9,intron_variant,,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;RP11-126L15.4,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,downstream_gene_variant,,ENST00000462106,;SLC12A9,upstream_gene_variant,,ENST00000497958,;	647	25	57	SUCCESS
VWDE	221806	.	GRCh37	7	12383827	12383827	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	236	54	270	0	ENST00000275358.3:c.4072G>A	p.Asp1358Asn	p.D1358N	ENST00000275358	NM_001135924.1	1358	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47544.1	4072	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCACAGG	NONE	.	.	SMART_domains:SM00181,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67,PROSITE_profiles:PS50026	.	.	ENSP00000275358	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.05)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Asp1358Asn,ENST00000275358,;VWDE,3_prime_UTR_variant,,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	4261	270	290	SUCCESS
ANKMY2	57037	.	GRCh37	7	16644410	16644410	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758423349	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	68	144	0	ENST00000306999.2:c.947A>T	p.Asp316Val	p.D316V	ENST00000306999	NM_020319.2	316	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS5361.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATCCACA	NONE	.	.	hmmpanther:PTHR24150	.	.	ENSP00000303570	.	8/10	.	.	.	.	.	.	.	.	rs758423349	8/10	PASS	ENST00000306999	Transcript	.	.	ENSG00000106524	25370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	deleterious(0.03)	.	ANKY2_HUMAN	ANKMY2	HGNC	.	.	UPI0000035D93	SNV	ANKMY2,missense_variant,p.Asp316Val,ENST00000306999,;ANKMY2,missense_variant,p.Asp316Val,ENST00000447802,;	1191	144	175	SUCCESS
MPP6	0	.	GRCh37	7	24718945	24718945	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs74407305	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	57	95	0	ENST00000222644.5:c.1310A>G	p.Asn437Ser	p.N437S	ENST00000222644		437	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS5388.1	1310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAACCCAC	NONE	byFrequency|suspect|byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122,PROSITE_profiles:PS50052	.	.	ENSP00000222644	.	10/12	.	.	.	.	.	.	.	.	rs74407305	10/12	PASS	ENST00000222644	Transcript	.	.	ENSG00000105926	18167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.33)	.	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,missense_variant,p.Asn437Ser,ENST00000396475,;MPP6,missense_variant,p.Asn325Ser,ENST00000409761,;MPP6,missense_variant,p.Asn437Ser,ENST00000222644,;MPP6,3_prime_UTR_variant,,ENST00000464384,;CTA-298G8.2,upstream_gene_variant,,ENST00000605160,;	1560	95	119	SUCCESS
PAPOLB	56903	.	GRCh37	7	4901350	4901350	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	73	0	ENST00000404991.1:c.89T>C	p.Val30Ala	p.V30A	ENST00000404991	NM_020144.4	30	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	.	89	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGACCGCT	NONE	.	.	hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,Superfamily_domains:SSF81301	.	.	ENSP00000384700	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000404991	Transcript	.	.	ENSG00000218823	15970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.74)	.	PAPOB_HUMAN	PAPOLB	HGNC	A4D1Z6_HUMAN	.	UPI0000131304	SNV	PAPOLB,missense_variant,p.Val30Ala,ENST00000404991,;RADIL,intron_variant,,ENST00000399583,;RADIL,intron_variant,,ENST00000536091,;RADIL,intron_variant,,ENST00000445392,;AC092610.12,downstream_gene_variant,,ENST00000454916,;	276	73	59	SUCCESS
SEMA3E	9723	.	GRCh37	7	83095918	83095918	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs1311561381	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	74	0	ENST00000307792.3:c.337-1G>T		p.X113_splice	ENST00000307792	NM_012431.2	113		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34674.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCTAAAG	NONE	.	.	.	.	.	ENSP00000303212	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	HIGH	3/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,splice_acceptor_variant,,ENST00000427262,;SEMA3E,splice_acceptor_variant,,ENST00000307792,;SEMA3E,splice_acceptor_variant,,ENST00000442159,;	.	74	79	SUCCESS
LRP12	29967	.	GRCh37	8	105507559	105507559	+	intron_variant	Intron	SNP	C	C	A	rs752913846	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	12	0	ENST00000276654.5:c.1581-122G>T		p.*527*	ENST00000276654	NM_013437.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6303.1	.	MUTECT|MUSE	.	TTAGTCATTTG	NONE	.	.	.	.	.	ENSP00000276654	.	.	.	.	.	.	.	.	.	.	rs752913846	.	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,intron_variant,,ENST00000523007,;LRP12,intron_variant,,ENST00000276654,;LRP12,intron_variant,,ENST00000424843,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,non_coding_transcript_exon_variant,,ENST00000522046,;LRP12,downstream_gene_variant,,ENST00000520770,;	.	12	19	SUCCESS
TOP1MT	116447	.	GRCh37	8	144407546	144407546	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371662022	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	35	0	ENST00000329245.4:c.641C>A	p.Thr214Lys	p.T214K	ENST00000329245	NM_052963.2	214	aCg/aAg	0	A:0	.	.	.	.	T	T/K	protein_coding	YES	CCDS6400.1	641	MUTECT|MUSE	.	CTGGCGTGATC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10290,Gene3D:2.170.11.10,Pfam_domain:PF02919,SMART_domains:SM00435,Superfamily_domains:SSF56741	.	A:0.0001	ENSP00000328835	.	5/14	.	.	.	.	.	.	.	.	rs371662022	5/14	PASS	ENST00000329245	Transcript	.	.	ENSG00000184428	29787	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.27)	.	TOP1M_HUMAN	TOP1MT	HGNC	E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN	.	UPI000013716D	SNV	TOP1MT,missense_variant,p.Thr116Lys,ENST00000522041,;TOP1MT,missense_variant,p.Thr116Lys,ENST00000523676,;TOP1MT,missense_variant,p.Thr116Lys,ENST00000519148,;TOP1MT,missense_variant,p.Thr116Lys,ENST00000519591,;TOP1MT,missense_variant,p.Thr116Lys,ENST00000521193,;TOP1MT,missense_variant,p.Thr214Lys,ENST00000329245,;TOP1MT,missense_variant,p.Thr116Lys,ENST00000519139,;TOP1MT,downstream_gene_variant,,ENST00000522043,;TOP1MT,downstream_gene_variant,,ENST00000520950,;TOP1MT,downstream_gene_variant,,ENST00000518760,;TOP1MT,downstream_gene_variant,,ENST00000518007,;TOP1MT,3_prime_UTR_variant,,ENST00000518951,;TOP1MT,3_prime_UTR_variant,,ENST00000522121,;TOP1MT,downstream_gene_variant,,ENST00000523417,;	676	35	48	SUCCESS
PPP1R16A	84988	.	GRCh37	8	145724197	145724197	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746197210	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	45	0	ENST00000292539.4:c.304G>A	p.Glu102Lys	p.E102K	ENST00000292539		102	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS6429.1	304	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGAGGAC	NONE	byFrequency	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24142,Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF038159,Superfamily_domains:SSF48403	.	.	ENSP00000292539	.	3/11	.	.	.	.	.	.	.	.	rs746197210	3/11	PASS	ENST00000292539	Transcript	.	.	ENSG00000160972	14941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	PP16A_HUMAN	PPP1R16A	HGNC	.	.	UPI0000132057	SNV	PPP1R16A,missense_variant,p.Glu102Lys,ENST00000435887,;PPP1R16A,missense_variant,p.Glu102Lys,ENST00000292539,;GPT,upstream_gene_variant,,ENST00000528431,;PPP1R16A,upstream_gene_variant,,ENST00000528430,;CTD-2517M22.14,non_coding_transcript_exon_variant,,ENST00000532766,;CTD-2517M22.14,downstream_gene_variant,,ENST00000527086,;PPP1R16A,downstream_gene_variant,,ENST00000529283,;PPP1R16A,downstream_gene_variant,,ENST00000533829,;PPP1R16A,downstream_gene_variant,,ENST00000533088,;PPP1R16A,downstream_gene_variant,,ENST00000529009,;PPP1R16A,non_coding_transcript_exon_variant,,ENST00000526183,;CTD-2517M14.5,non_coding_transcript_exon_variant,,ENST00000569326,;PPP1R16A,non_coding_transcript_exon_variant,,ENST00000532806,;CTD-2517M22.14,intron_variant,,ENST00000528207,;PPP1R16A,upstream_gene_variant,,ENST00000526564,;CTD-2517M22.14,downstream_gene_variant,,ENST00000528690,;GPT,upstream_gene_variant,,ENST00000527165,;	1221	45	59	SUCCESS
ZDHHC2	51201	.	GRCh37	8	17043874	17043874	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	86	181	0	ENST00000262096.8:c.192A>G	p.Ala64=	p.A64=	ENST00000262096	NM_016353.4	64	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS47810.1	192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCAATGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22883:SF14,hmmpanther:PTHR22883	.	.	ENSP00000262096	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000262096	Transcript	.	.	ENSG00000104219	18469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDHC2_HUMAN	ZDHHC2	HGNC	E5RFZ7_HUMAN,B3KMD6_HUMAN	.	UPI000004A02F	SNV	ZDHHC2,synonymous_variant,p.%3D,ENST00000522184,;ZDHHC2,synonymous_variant,p.%3D,ENST00000262096,;ZDHHC2,downstream_gene_variant,,ENST00000523132,;	887	181	93	SUCCESS
KAT6A	7994	.	GRCh37	8	41798614	41798614	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	59	0	ENST00000265713.2:c.2785C>T	p.Gln929Ter	p.Q929*	ENST00000265713	NM_006766.3	929	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6124.1	2785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGGCTTG	NONE	.	.	hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615	.	.	ENSP00000380136	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000396930	Transcript	1	.	ENSG00000083168	13013	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT6A_HUMAN	KAT6A	HGNC	A5PKX7_HUMAN	.	UPI000013D666	SNV	KAT6A,stop_gained,p.Gln929Ter,ENST00000396930,;KAT6A,stop_gained,p.Gln929Ter,ENST00000406337,;KAT6A,stop_gained,p.Gln929Ter,ENST00000265713,;KAT6A,stop_gained,p.Gln509Ter,ENST00000418721,;KAT6A,downstream_gene_variant,,ENST00000485568,;	3329	59	78	SUCCESS
PAPPA	5069	.	GRCh37	9	119115123	119115123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	75	0	ENST00000328252.3:c.4103A>G	p.Lys1368Arg	p.K1368R	ENST00000328252	NM_002581.3	1368	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6813.1	4103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAAGGTGG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000330658	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	deleterious(0.03)	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,missense_variant,p.Lys1368Arg,ENST00000328252,;PAPPA,missense_variant,p.Lys406Arg,ENST00000534838,;	4472	75	91	SUCCESS
KCNT1	57582	.	GRCh37	9	138660719	138660719	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	37	0	ENST00000488444.2:c.1389C>T	p.Ala463=	p.A463=	ENST00000488444		463	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS35175.2	1446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGCCCCCAA	NONE	.	.	Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	15/31	.	.	.	.	.	.	.	.	COSM1285688	15/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,synonymous_variant,p.%3D,ENST00000486577,;KCNT1,synonymous_variant,p.%3D,ENST00000490355,;KCNT1,synonymous_variant,p.%3D,ENST00000263604,;KCNT1,synonymous_variant,p.%3D,ENST00000491806,;KCNT1,synonymous_variant,p.%3D,ENST00000298480,;KCNT1,synonymous_variant,p.%3D,ENST00000487664,;KCNT1,synonymous_variant,p.%3D,ENST00000371757,;KCNT1,synonymous_variant,p.%3D,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	1513	37	47	SUCCESS
ABCA2	20	.	GRCh37	9	139907958	139907958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755244581	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	40	0	ENST00000341511.6:c.4505G>A	p.Arg1502His	p.R1502H	ENST00000341511	NM_212533.2	1502	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43909.1	4505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCACGGGGC	NONE	byFrequency	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116	.	.	ENSP00000344155	.	29/49	.	.	.	.	.	.	.	.	rs755244581	29/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	tolerated(0.15)	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,missense_variant,p.Arg1501His,ENST00000371605,;ABCA2,missense_variant,p.Arg1502His,ENST00000341511,;ABCA2,missense_variant,p.Arg1502His,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000448336,;ABCA2,upstream_gene_variant,,ENST00000490486,;ABCA2,downstream_gene_variant,,ENST00000466707,;ABCA2,upstream_gene_variant,,ENST00000463603,;ABCA2,upstream_gene_variant,,ENST00000464157,;ABCA2,downstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000437791,;ABCA2,missense_variant,p.Arg852His,ENST00000479446,;ABCA2,missense_variant,p.Arg1531His,ENST00000459850,;ABCA2,missense_variant,p.Arg849His,ENST00000488535,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000464520,;ABCA2,upstream_gene_variant,,ENST00000431584,;	4555	40	45	SUCCESS
ZBTB5	9925	.	GRCh37	9	37441538	37441538	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	39	0	ENST00000307750.4:c.1011T>C	p.Pro337=	p.P337=	ENST00000307750	NM_014872.2	337	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6610.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCAGGTGA	NONE	.	.	hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF68	.	.	ENSP00000307604	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307750	Transcript	.	.	ENSG00000168795	23836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBTB5_HUMAN	ZBTB5	HGNC	Q5T942_HUMAN	.	UPI000006FAE2	SNV	ZBTB5,synonymous_variant,p.%3D,ENST00000307750,;GRHPR,downstream_gene_variant,,ENST00000318158,;GRHPR,downstream_gene_variant,,ENST00000491488,;GRHPR,downstream_gene_variant,,ENST00000460882,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;GRHPR,downstream_gene_variant,,ENST00000497693,;	1200	39	26	SUCCESS
TRPC5	7224	.	GRCh37	X	111195372	111195372	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	81	196	0	ENST00000262839.2:c.277A>T	p.Ser93Cys	p.S93C	ENST00000262839	NM_012471.2	93	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS14561.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCTGTGGT	NONE	.	.	hmmpanther:PTHR10117:SF24,hmmpanther:PTHR10117,Pfam_domain:PF12796,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262839	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262839	Transcript	.	.	ENSG00000072315	12337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0.02)	.	TRPC5_HUMAN	TRPC5	HGNC	.	.	UPI00001374B6	SNV	TRPC5,missense_variant,p.Ser93Cys,ENST00000262839,;	1196	196	178	SUCCESS
ABCC2	1244	.	GRCh37	10	101542544	101542544	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	22	0	ENST00000370449.4:c.-58A>C		p.*20*	ENST00000370449	NM_000392.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7484.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGAAAC	NONE	.	.	.	.	.	ENSP00000359478	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000370449	Transcript	1	.	ENSG00000023839	53	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP2_HUMAN	ABCC2	HGNC	.	.	UPI000013D6CA	SNV	ABCC2,5_prime_UTR_variant,,ENST00000370449,;ABCC2,5_prime_UTR_variant,,ENST00000370434,;	56	22	47	SUCCESS
BLOC1S2	282991	.	GRCh37	10	102040753	102040753	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	43	0	ENST00000370372.2:c.230A>G	p.Tyr77Cys	p.Y77C	ENST00000370372	NM_173809.4	77	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7490.1	230	MUTECT|MUSE	.	CAAGATACTTC	NONE	.	.	Pfam_domain:PF10046,hmmpanther:PTHR10668,hmmpanther:PTHR10668:SF66	.	.	ENSP00000359398	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000370372	Transcript	.	.	ENSG00000196072	20984	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BL1S2_HUMAN	BLOC1S2	HGNC	F1T0F0_HUMAN	.	UPI00000358DA	SNV	BLOC1S2,missense_variant,p.Tyr34Cys,ENST00000441611,;BLOC1S2,missense_variant,p.Tyr77Cys,ENST00000370372,;BLOC1S2,missense_variant,p.Tyr37Cys,ENST00000579542,;BLOC1S2,non_coding_transcript_exon_variant,,ENST00000361832,;	283	43	83	SUCCESS
EIF3A	8661	.	GRCh37	10	120829152	120829152	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	32	0	ENST00000369144.3:c.756T>A	p.Ala252=	p.A252=	ENST00000369144	NM_003750.2	252	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7608.1	756	MUTECT|MUSE	.	TCCACAGCTTT	NONE	.	.	HAMAP:MF_03000,hmmpanther:PTHR14005:SF0,hmmpanther:PTHR14005	.	.	ENSP00000358140	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000369144	Transcript	.	.	ENSG00000107581	3271	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3A_HUMAN	EIF3A	HGNC	F5H335_HUMAN	.	UPI000012D311	SNV	EIF3A,synonymous_variant,p.%3D,ENST00000541549,;EIF3A,synonymous_variant,p.%3D,ENST00000369144,;	884	32	47	SUCCESS
WDR11	55717	.	GRCh37	10	122626230	122626230	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs543120664	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	84	0	ENST00000263461.6:c.1144A>G	p.Ile382Val	p.I382V	ENST00000263461	NM_018117.11	382	Ata/Gta	0	.	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS7619.1	1144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGATATGG	NONE	by1000G	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR14593	G:0	.	ENSP00000263461	G:0	8/29	.	.	.	.	.	.	.	.	rs543120664	8/29	PASS	ENST00000263461	Transcript	1	G:0.0002	ENSG00000120008	13831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	G:0.001	tolerated(0.32)	.	WDR11_HUMAN	WDR11	HGNC	S4R3Z0_HUMAN,Q9NWV7_HUMAN,Q659C9_HUMAN	.	UPI0000138ED1	SNV	WDR11,missense_variant,p.Ile382Val,ENST00000263461,;WDR11,missense_variant,p.Ile123Val,ENST00000604585,;WDR11,downstream_gene_variant,,ENST00000605178,;WDR11,upstream_gene_variant,,ENST00000604220,;WDR11,downstream_gene_variant,,ENST00000605069,;WDR11,downstream_gene_variant,,ENST00000462529,;WDR11,missense_variant,p.Ile123Val,ENST00000497136,;WDR11,intron_variant,,ENST00000605543,;	1390	84	118	SUCCESS
COMMD3	23412	.	GRCh37	10	22605352	22605352	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199921951	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	80	0	ENST00000376836.3:c.6G>T	p.Glu2Asp	p.E2D	ENST00000376836	NM_012071.3	2	gaG/gaT	0	.	T:0	.	T:0	.	T	E/D	protein_coding	YES	CCDS7137.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGCTCTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR31159:SF1,hmmpanther:PTHR31159	T:0.002	.	ENSP00000366032	T:0	1/8	.	.	.	.	.	.	.	.	rs199921951	1/8	PASS	ENST00000376836	Transcript	.	T:0.0004	ENSG00000148444	23332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	T:0	deleterious(0)	.	COMD3_HUMAN	COMMD3	HGNC	.	.	UPI000006F319	SNV	COMMD3,missense_variant,p.Glu3Asp,ENST00000456711,;COMMD3,missense_variant,p.Glu2Asp,ENST00000376836,;COMMD3-BMI1,missense_variant,p.Glu2Asp,ENST00000602390,;COMMD3,missense_variant,p.Glu2Asp,ENST00000444869,;COMMD3-BMI1,missense_variant,p.Glu2Asp,ENST00000475460,;COMMD3,upstream_gene_variant,,ENST00000471350,;BMI1,upstream_gene_variant,,ENST00000376663,;COMMD3-BMI1,upstream_gene_variant,,ENST00000489125,;COMMD3,upstream_gene_variant,,ENST00000448361,;COMMD3,upstream_gene_variant,,ENST00000483684,;COMMD3-BMI1,upstream_gene_variant,,ENST00000463409,;COMMD3,upstream_gene_variant,,ENST00000472673,;COMMD3,upstream_gene_variant,,ENST00000468469,;COMMD3,non_coding_transcript_exon_variant,,ENST00000470045,;COMMD3,non_coding_transcript_exon_variant,,ENST00000479958,;COMMD3,non_coding_transcript_exon_variant,,ENST00000602574,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468179,;COMMD3,upstream_gene_variant,,ENST00000463688,;COMMD3,upstream_gene_variant,,ENST00000496071,;COMMD3,upstream_gene_variant,,ENST00000472610,;COMMD3-BMI1,upstream_gene_variant,,ENST00000417470,;COMMD3-BMI1,upstream_gene_variant,,ENST00000602395,;	450	80	69	SUCCESS
COMMD3	23412	.	GRCh37	10	22605353	22605353	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	81	0	ENST00000376836.3:c.7C>T	p.Leu3Phe	p.L3F	ENST00000376836	NM_012071.3	3	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7137.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCTCTCG	NONE	.	.	hmmpanther:PTHR31159:SF1,hmmpanther:PTHR31159	.	.	ENSP00000366032	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000376836	Transcript	.	.	ENSG00000148444	23332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.06)	.	COMD3_HUMAN	COMMD3	HGNC	.	.	UPI000006F319	SNV	COMMD3,missense_variant,p.Leu4Phe,ENST00000456711,;COMMD3,missense_variant,p.Leu3Phe,ENST00000376836,;COMMD3-BMI1,missense_variant,p.Leu3Phe,ENST00000602390,;COMMD3,missense_variant,p.Leu3Phe,ENST00000444869,;COMMD3-BMI1,missense_variant,p.Leu3Phe,ENST00000475460,;COMMD3,upstream_gene_variant,,ENST00000471350,;BMI1,upstream_gene_variant,,ENST00000376663,;COMMD3-BMI1,upstream_gene_variant,,ENST00000489125,;COMMD3,upstream_gene_variant,,ENST00000448361,;COMMD3,upstream_gene_variant,,ENST00000483684,;COMMD3-BMI1,upstream_gene_variant,,ENST00000463409,;COMMD3,upstream_gene_variant,,ENST00000472673,;COMMD3,upstream_gene_variant,,ENST00000468469,;COMMD3,non_coding_transcript_exon_variant,,ENST00000470045,;COMMD3,non_coding_transcript_exon_variant,,ENST00000479958,;COMMD3,non_coding_transcript_exon_variant,,ENST00000602574,;COMMD3,non_coding_transcript_exon_variant,,ENST00000468179,;COMMD3,upstream_gene_variant,,ENST00000463688,;COMMD3,upstream_gene_variant,,ENST00000496071,;COMMD3,upstream_gene_variant,,ENST00000472610,;COMMD3-BMI1,upstream_gene_variant,,ENST00000417470,;COMMD3-BMI1,upstream_gene_variant,,ENST00000602395,;	451	81	70	SUCCESS
ALOX5	240	.	GRCh37	10	45869875	45869875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1351875101	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	4	190	0	ENST00000374391.2:c.148G>A	p.Ala50Thr	p.A50T	ENST00000374391	NM_000698.3	50	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7212.1	148	MUTECT|MUSE	.	GTGGCGCGGTG	NONE	.	.	PROSITE_profiles:PS50095,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723	.	.	ENSP00000363512	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000374391	Transcript	.	.	ENSG00000012779	435	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.026)	.	tolerated(0.08)	.	LOX5_HUMAN	ALOX5	HGNC	E5FPY7_HUMAN	.	UPI0000043F84	SNV	ALOX5,missense_variant,p.Ala50Thr,ENST00000374391,;ALOX5,missense_variant,p.Ala50Thr,ENST00000542434,;	201	190	145	SUCCESS
PHYHIPL	84457	.	GRCh37	10	60996312	60996312	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	51	0	ENST00000373880.4:c.373A>G	p.Ser125Gly	p.S125G	ENST00000373880	NM_032439.3	125	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS7254.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAAGCCCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR15698:SF6,hmmpanther:PTHR15698,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000362987	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000373880	Transcript	.	.	ENSG00000165443	29378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PHIPL_HUMAN	PHYHIPL	HGNC	.	.	UPI0000199879	SNV	PHYHIPL,missense_variant,p.Ser99Gly,ENST00000373878,;PHYHIPL,missense_variant,p.Ser125Gly,ENST00000373880,;PHYHIPL,non_coding_transcript_exon_variant,,ENST00000472199,;PHYHIPL,3_prime_UTR_variant,,ENST00000486074,;	637	51	77	SUCCESS
LGI1	9211	.	GRCh37	10	95557391	95557391	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1274	291	912	0	ENST00000371418.4:c.1505A>G	p.Tyr502Cys	p.Y502C	ENST00000371418	NM_005097.2	502	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7431.1	1505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTATAACT	NONE	.	.	Pfam_domain:PF03736,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF17,PROSITE_profiles:PS50912	.	.	ENSP00000360472	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371418	Transcript	1	.	ENSG00000108231	6572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	LGI1_HUMAN	LGI1	HGNC	.	.	UPI0000048F03	SNV	LGI1,missense_variant,p.Tyr454Cys,ENST00000542308,;LGI1,missense_variant,p.Tyr502Cys,ENST00000371418,;LGI1,intron_variant,,ENST00000371413,;	1765	912	1565	SUCCESS
C11orf70	0	.	GRCh37	11	101918604	101918604	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	65	0	ENST00000434758.2:c.169T>A	p.Tyr57Asn	p.Y57N	ENST00000434758	NM_032930.2	57	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS8313.2	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTATCGG	NONE	.	.	hmmpanther:PTHR31078,hmmpanther:PTHR31078:SF1,Pfam_domain:PF14926	.	.	ENSP00000414390	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000434758	Transcript	.	.	ENSG00000137691	28188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	CK070_HUMAN	C11orf70	HGNC	.	.	UPI00001FA24F	SNV	C11orf70,missense_variant,p.Tyr57Asn,ENST00000534360,;C11orf70,missense_variant,p.Tyr57Asn,ENST00000526781,;C11orf70,missense_variant,p.Tyr57Asn,ENST00000434758,;C11orf70,non_coding_transcript_exon_variant,,ENST00000530659,;	197	65	75	SUCCESS
GRIA4	2893	.	GRCh37	11	105795386	105795386	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200205997	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	12	106	0	ENST00000282499.5:c.1738G>T	p.Asp580Tyr	p.D580Y	ENST00000282499	NM_000829.3	580	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8333.1	1738	MUTECT|MUSE	.	CAGAGGACGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324	.	.	ENSP00000282499	.	12/17	.	.	.	.	.	.	.	.	rs200205997	12/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Asp580Tyr,ENST00000282499,;GRIA4,missense_variant,p.Asp580Tyr,ENST00000530497,;GRIA4,missense_variant,p.Asp580Tyr,ENST00000393127,;GRIA4,missense_variant,p.Asp580Tyr,ENST00000525187,;	2184	106	172	SUCCESS
EIF4G2	1982	.	GRCh37	11	10823243	10823243	+	synonymous_variant	Silent	SNP	G	G	T	rs746458672	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	59	0	ENST00000526148.1:c.1378C>A	p.Arg460=	p.R460=	ENST00000526148	NM_001172705.1	460	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31428.1	1378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCGAGGTG	NONE	.	.	hmmpanther:PTHR23253	.	.	ENSP00000433664	.	14/22	.	.	.	.	.	.	.	.	rs746458672,COSM1251095	14/22	PASS	ENST00000526148	Transcript	.	.	ENSG00000110321	3297	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	.	EIF4G2	HGNC	Q59G42_HUMAN,Q2TU89_HUMAN,H0YEN8_HUMAN,H0YEC5_HUMAN,H0YDC0_HUMAN,H0YD99_HUMAN,H0YD77_HUMAN,H0YCF8_HUMAN,D3DQV9_HUMAN,B4DZF2_HUMAN	.	UPI000013C8BE	SNV	EIF4G2,synonymous_variant,p.%3D,ENST00000525681,;EIF4G2,synonymous_variant,p.%3D,ENST00000339995,;EIF4G2,synonymous_variant,p.%3D,ENST00000526148,;EIF4G2,intron_variant,,ENST00000531416,;EIF4G2,intron_variant,,ENST00000396525,;EIF4G2,downstream_gene_variant,,ENST00000527526,;EIF4G2,upstream_gene_variant,,ENST00000531180,;EIF4G2,downstream_gene_variant,,ENST00000530702,;EIF4G2,downstream_gene_variant,,ENST00000532082,;EIF4G2,upstream_gene_variant,,ENST00000528839,;EIF4G2,downstream_gene_variant,,ENST00000527419,;EIF4G2,downstream_gene_variant,,ENST00000524932,;EIF4G2,downstream_gene_variant,,ENST00000532570,;EIF4G2,downstream_gene_variant,,ENST00000530211,;SNORD97,upstream_gene_variant,,ENST00000459187,;RP11-685M7.5,downstream_gene_variant,,ENST00000532365,;EIF4G2,intron_variant,,ENST00000532120,;EIF4G2,downstream_gene_variant,,ENST00000531507,;EIF4G2,upstream_gene_variant,,ENST00000534272,;EIF4G2,downstream_gene_variant,,ENST00000525995,;EIF4G2,downstream_gene_variant,,ENST00000525972,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000532383,;EIF4G2,downstream_gene_variant,,ENST00000533485,;EIF4G2,upstream_gene_variant,,ENST00000534470,;EIF4G2,upstream_gene_variant,,ENST00000525606,;EIF4G2,downstream_gene_variant,,ENST00000528562,;EIF4G2,downstream_gene_variant,,ENST00000527015,;EIF4G2,downstream_gene_variant,,ENST00000532349,;EIF4G2,downstream_gene_variant,,ENST00000534605,;EIF4G2,upstream_gene_variant,,ENST00000530564,;EIF4G2,downstream_gene_variant,,ENST00000531647,;EIF4G2,downstream_gene_variant,,ENST00000532152,;	1889	59	72	SUCCESS
NXPE2	120406	.	GRCh37	11	114550401	114550401	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	24	0	ENST00000389586.4:c.49G>T	p.Ala17Ser	p.A17S	ENST00000389586	NM_182495.5	17	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS44738.1	49	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGCCATA	NONE	.	.	.	.	.	ENSP00000374237	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000389586	Transcript	.	.	ENSG00000204361	26331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.32)	.	NXPE2_HUMAN	NXPE2	HGNC	.	.	UPI0001662547	SNV	NXPE2,missense_variant,p.Ala17Ser,ENST00000375475,;NXPE2,missense_variant,p.Ala17Ser,ENST00000389586,;	239	24	58	SUCCESS
SORL1	6653	.	GRCh37	11	121323146	121323146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	44	0	ENST00000260197.7:c.106C>T	p.His36Tyr	p.H36Y	ENST00000260197	NM_003105.5	36	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS8436.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCACGGC	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20	.	.	ENSP00000260197	.	1/48	.	.	.	.	.	.	.	.	.	1/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.09)	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,missense_variant,p.His36Tyr,ENST00000260197,;RP11-730K11.1,intron_variant,,ENST00000529160,;RP11-730K11.1,intron_variant,,ENST00000501964,;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	235	44	34	SUCCESS
OR8D2	283160	.	GRCh37	11	124190043	124190043	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	46	0	ENST00000357438.2:c.51G>C	p.Leu17Phe	p.L17F	ENST00000357438	NM_001002918.1	17	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS31707.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCAAGCC	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF278,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350022	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357438	Transcript	.	.	ENSG00000197263	8482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.01)	.	OR8D2_HUMAN	OR8D2	HGNC	.	.	UPI0000041D8E	SNV	OR8D2,missense_variant,p.Leu17Phe,ENST00000357438,;OR8B7P,downstream_gene_variant,,ENST00000526868,;	142	46	64	SUCCESS
VSIG2	23584	.	GRCh37	11	124618302	124618302	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	29	57	0	ENST00000326621.5:c.835G>C	p.Gly279Arg	p.G279R	ENST00000326621	NM_014312.3	279	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS8452.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCATATG	NONE	.	.	hmmpanther:PTHR12231:SF78,hmmpanther:PTHR12231	.	.	ENSP00000318684	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000326621	Transcript	.	.	ENSG00000019102	17149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.11)	.	VSIG2_HUMAN	VSIG2	HGNC	.	.	UPI0000035BBB	SNV	VSIG2,missense_variant,p.Gly279Arg,ENST00000403470,;VSIG2,missense_variant,p.Gly279Arg,ENST00000326621,;NRGN,downstream_gene_variant,,ENST00000284292,;ESAM,downstream_gene_variant,,ENST00000444566,;NRGN,downstream_gene_variant,,ENST00000412681,;ESAM,downstream_gene_variant,,ENST00000442070,;ESAM,downstream_gene_variant,,ENST00000278927,;RP11-677M14.2,upstream_gene_variant,,ENST00000531241,;ESAM,downstream_gene_variant,,ENST00000485116,;ESAM,downstream_gene_variant,,ENST00000464067,;ESAM,downstream_gene_variant,,ENST00000417453,;	936	57	65	SUCCESS
HPS5	11234	.	GRCh37	11	18333536	18333536	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	51	0	ENST00000349215.3:c.144T>A	p.Ala48=	p.A48=	ENST00000349215	NM_181507.1	48	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7836.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAAGCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23287:SF15,hmmpanther:PTHR23287,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037475,Superfamily_domains:SSF50978	.	.	ENSP00000265967	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000349215	Transcript	.	.	ENSG00000110756	17022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPS5_HUMAN	HPS5	HGNC	F5GWM5_HUMAN	.	UPI000000D7E9	SNV	HPS5,synonymous_variant,p.%3D,ENST00000349215,;HPS5,5_prime_UTR_variant,,ENST00000531848,;HPS5,5_prime_UTR_variant,,ENST00000438420,;HPS5,5_prime_UTR_variant,,ENST00000396253,;HPS5,non_coding_transcript_exon_variant,,ENST00000589545,;HPS5,non_coding_transcript_exon_variant,,ENST00000399287,;	422	51	74	SUCCESS
ANO5	203859	.	GRCh37	11	22247597	22247597	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	316	64	189	0	ENST00000324559.8:c.363+1del		p.R121fs	ENST00000324559	NM_001142649.1	121	aGg/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS31444.1	362	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAAAGGGTAA	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23	.	.	ENSP00000315371	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000324559	Transcript	.	.	ENSG00000171714	27337	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANO5_HUMAN	ANO5	HGNC	.	.	UPI000035B19B	deletion	ANO5,frameshift_variant,,ENST00000324559,;	679	189	380	SUCCESS
PRR5L	79899	.	GRCh37	11	36472812	36472812	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	66	0	ENST00000378867.3:c.639G>A	p.Leu213=	p.L213=	ENST00000378867	NM_024841.4	213	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31463.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGGTGAA	NONE	.	.	hmmpanther:PTHR32428,hmmpanther:PTHR32428:SF3	.	.	ENSP00000368144	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000378867	Transcript	.	.	ENSG00000135362	25878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR5L_HUMAN	PRR5L	HGNC	E9PS02_HUMAN,E9PP62_HUMAN,E9PP25_HUMAN,E9PLJ6_HUMAN,E9PL62_HUMAN,E9PKK6_HUMAN,E9PJV4_HUMAN,E9PIU0_HUMAN	.	UPI0000DBEF36	SNV	PRR5L,synonymous_variant,p.%3D,ENST00000530639,;PRR5L,synonymous_variant,p.%3D,ENST00000311599,;PRR5L,synonymous_variant,p.%3D,ENST00000378867,;PRR5L,intron_variant,,ENST00000527487,;PRR5L,non_coding_transcript_exon_variant,,ENST00000389693,;PRR5L,upstream_gene_variant,,ENST00000530627,;PRR5L,upstream_gene_variant,,ENST00000529020,;PRR5L,upstream_gene_variant,,ENST00000525672,;	994	66	106	SUCCESS
SYT13	57586	.	GRCh37	11	45307590	45307590	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139035860	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	59	0	ENST00000020926.3:c.169G>T	p.Gly57Trp	p.G57W	ENST00000020926	NM_020826.2	57	Ggg/Tgg	0	G:0	.	.	.	.	A	G/W	protein_coding	YES	CCDS31470.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGAGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10024:SF211,hmmpanther:PTHR10024	.	G:0.0006	ENSP00000020926	.	1/6	.	.	.	.	.	.	.	.	rs139035860	1/6	PASS	ENST00000020926	Transcript	.	.	ENSG00000019505	14962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.523)	.	tolerated(0.32)	.	SYT13_HUMAN	SYT13	HGNC	.	.	UPI000003AC01	SNV	SYT13,missense_variant,p.Gly57Trp,ENST00000020926,;SYT13,upstream_gene_variant,,ENST00000528101,;SYT13,missense_variant,p.Gly11Trp,ENST00000533332,;	281	59	63	SUCCESS
OR4D9	390199	.	GRCh37	11	59282778	59282778	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	44	0	ENST00000329328.3:c.393C>T	p.His131=	p.H131=	ENST00000329328	NM_001004711.1	131	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS31564.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACTATAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF272,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000328563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329328	Transcript	.	.	ENSG00000172742	15178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4D9_HUMAN	OR4D9	HGNC	.	.	UPI0000061EE8	SNV	OR4D9,synonymous_variant,p.%3D,ENST00000329328,;	393	44	55	SUCCESS
CHRM1	1128	.	GRCh37	11	62678251	62678251	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	40	76	0	ENST00000306960.3:c.322G>A	p.Ala108Thr	p.A108T	ENST00000306960	NM_000738.2	108	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8040.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCCACAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF216,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00243,Prints_domain:PR00237	.	.	ENSP00000306490	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306960	Transcript	.	.	ENSG00000168539	1950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.74)	.	deleterious(0.01)	.	ACM1_HUMAN	CHRM1	HGNC	Q96RH1_HUMAN,Q53XZ3_HUMAN,F5GZF8_HUMAN	.	UPI00001252AB	SNV	CHRM1,missense_variant,p.Ala108Thr,ENST00000536524,;CHRM1,missense_variant,p.Ala108Thr,ENST00000543973,;CHRM1,missense_variant,p.Ala108Thr,ENST00000306960,;AP000438.2,non_coding_transcript_exon_variant,,ENST00000543624,;	864	76	127	SUCCESS
CCS	9973	.	GRCh37	11	66367052	66367052	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	48	188	0	ENST00000533244.1:c.373G>T	p.Gly125Trp	p.G125W	ENST00000533244	NM_005125.1	125	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS8146.1	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTGGGCTG	NONE	.	.	Superfamily_domains:SSF49329,Pfam_domain:PF00080,Gene3D:2.60.40.200,hmmpanther:PTHR10003	.	.	ENSP00000436318	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000533244	Transcript	.	.	ENSG00000173992	1613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCS_HUMAN	CCS	HGNC	J3KNF4_HUMAN,E9PP76_HUMAN	.	UPI0000127323	SNV	CCS,missense_variant,p.Gly106Trp,ENST00000310190,;CCS,missense_variant,p.Gly125Trp,ENST00000533244,;CCS,upstream_gene_variant,,ENST00000534763,;CCS,missense_variant,p.Gly125Trp,ENST00000530961,;CCS,non_coding_transcript_exon_variant,,ENST00000526066,;CCS,non_coding_transcript_exon_variant,,ENST00000531990,;CCS,non_coding_transcript_exon_variant,,ENST00000526058,;CCS,non_coding_transcript_exon_variant,,ENST00000530384,;CCS,upstream_gene_variant,,ENST00000525435,;	814	188	181	SUCCESS
MTNR1B	4544	.	GRCh37	11	92714649	92714649	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	32	0	ENST00000257068.2:c.260T>A	p.Leu87Gln	p.L87Q	ENST00000257068	NM_005959.3	87	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8290.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTGGTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000257068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000257068	Transcript	.	.	ENSG00000134640	7464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MTR1B_HUMAN	MTNR1B	HGNC	Q8TEV7_HUMAN	.	UPI0000050408	SNV	MTNR1B,missense_variant,p.Leu87Gln,ENST00000257068,;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	266	32	59	SUCCESS
CCDC67	0	.	GRCh37	11	93104432	93104432	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	241	106	203	0	ENST00000298050.3:c.775C>T	p.Gln259Ter	p.Q259*	ENST00000298050	NM_181645.3	259	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS44707.1	775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCAAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18875:SF5,hmmpanther:PTHR18875	.	.	ENSP00000298050	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000298050	Transcript	.	.	ENSG00000165325	26344	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD67_HUMAN	CCDC67	HGNC	E9PIY2_HUMAN,E9PPB2_HUMAN,E9PIV7_HUMAN	.	UPI0000161951	SNV	CCDC67,stop_gained,p.Gln259Ter,ENST00000534747,;CCDC67,stop_gained,p.Gln259Ter,ENST00000298050,;CCDC67,stop_gained,p.Gln259Ter,ENST00000532819,;CCDC67,stop_gained,p.Gln259Ter,ENST00000531448,;CCDC67,stop_gained,p.Gln259Ter,ENST00000531792,;CCDC67,stop_gained,p.Gln259Ter,ENST00000530862,;	875	203	347	SUCCESS
IPO7	10527	.	GRCh37	11	9435885	9435885	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	44	0	ENST00000379719.3:c.563T>G	p.Leu188Arg	p.L188R	ENST00000379719	NM_006391.2	188	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS31425.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTTCTTT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	SNV	IPO7,missense_variant,p.Leu126Arg,ENST00000527431,;IPO7,missense_variant,p.Leu188Arg,ENST00000379719,;IPO7,non_coding_transcript_exon_variant,,ENST00000528833,;IPO7,downstream_gene_variant,,ENST00000533233,;	705	44	72	SUCCESS
MAML2	84441	.	GRCh37	11	95724767	95724767	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	60	0	ENST00000524717.1:c.2260A>G	p.Met754Val	p.M754V	ENST00000524717	NM_032427.1	754	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS44714.1	2260	MUTECT|MUSE	.	TCCCATCAATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9	.	.	ENSP00000434552	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	SNV	MAML2,missense_variant,p.Met754Val,ENST00000524717,;	3545	60	92	SUCCESS
CLEC12A	160364	.	GRCh37	12	10131563	10131563	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs771210248	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	45	0	ENST00000304361.4:c.92-2A>T		p.X31_splice	ENST00000304361	NM_138337.5	31		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55803.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACAGCACC	NONE	byFrequency	.	.	.	.	ENSP00000347916	.	.	.	.	.	.	.	.	.	.	rs771210248	.	PASS	ENST00000355690	Transcript	.	.	ENSG00000172322	31713	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL12A_HUMAN	CLEC12A	HGNC	A8MVL9_HUMAN	.	UPI0000496836	SNV	CLEC12A,splice_acceptor_variant,,ENST00000434319,;CLEC12A,splice_acceptor_variant,,ENST00000355690,;CLEC12A,splice_acceptor_variant,,ENST00000304361,;CLEC12A,splice_acceptor_variant,,ENST00000396507,;CLEC12A,intron_variant,,ENST00000350667,;CLEC12A,splice_acceptor_variant,,ENST00000543839,;CLEC12A,splice_acceptor_variant,,ENST00000449959,;	.	45	68	SUCCESS
LRP6	4040	.	GRCh37	12	12332891	12332891	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	53	0	ENST00000261349.4:c.1398A>T	p.Gly466=	p.G466=	ENST00000261349	NM_002336.2	466	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8647.1	1398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTCCCCA	NONE	.	.	Superfamily_domains:SSF63825,SMART_domains:SM00135,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	.	.	ENSP00000261349	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000261349	Transcript	.	.	ENSG00000070018	6698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP6_HUMAN	LRP6	HGNC	F5H0Z3_HUMAN,B3KQA9_HUMAN	.	UPI00001FB66C	SNV	LRP6,synonymous_variant,p.%3D,ENST00000543091,;LRP6,synonymous_variant,p.%3D,ENST00000261349,;LRP6,synonymous_variant,p.%3D,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;	1475	53	109	SUCCESS
HIP1R	9026	.	GRCh37	12	123340546	123340546	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	127	0	ENST00000253083.4:c.1148A>G	p.Gln383Arg	p.Q383R	ENST00000253083	NM_003959.1	383	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS31922.1	1148	RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCAGCTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10407,hmmpanther:PTHR10407:SF10	.	.	ENSP00000253083	.	14/32	.	.	.	.	.	.	.	.	.	14/32	PASS	ENST00000253083	Transcript	.	.	ENSG00000130787	18415	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.756)	.	deleterious(0.02)	.	HIP1R_HUMAN	HIP1R	HGNC	B3KN98_HUMAN	.	UPI000012C72C	SNV	HIP1R,missense_variant,p.Gln383Arg,ENST00000253083,;HIP1R,upstream_gene_variant,,ENST00000535012,;HIP1R,non_coding_transcript_exon_variant,,ENST00000452196,;HIP1R,non_coding_transcript_exon_variant,,ENST00000535831,;HIP1R,non_coding_transcript_exon_variant,,ENST00000536847,;HIP1R,upstream_gene_variant,,ENST00000541712,;HIP1R,upstream_gene_variant,,ENST00000538236,;HIP1R,upstream_gene_variant,,ENST00000536617,;HIP1R,downstream_gene_variant,,ENST00000536772,;	1273	127	123	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18576952	18576952	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	56	0	ENST00000266497.5:c.2360A>G	p.Gln787Arg	p.Q787R	ENST00000266497		787	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS44839.1	2360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGTTG	NONE	.	.	PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,Gene3D:1.25.40.70,Pfam_domain:PF00613,SMART_domains:SM00145,Superfamily_domains:SSF48371	.	.	ENSP00000404845	.	17/32	.	.	.	.	.	.	.	.	.	17/32	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.8)	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,missense_variant,p.Gln828Arg,ENST00000538779,;PIK3C2G,missense_variant,p.Gln787Arg,ENST00000266497,;PIK3C2G,missense_variant,p.Gln787Arg,ENST00000433979,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;RP11-459D22.1,upstream_gene_variant,,ENST00000535964,;	2476	56	92	SUCCESS
SLC6A13	6540	.	GRCh37	12	330614	330614	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	57	0	ENST00000343164.4:c.1614T>C	p.Ala538=	p.A538=	ENST00000343164	NM_016615.4	538	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8502.1	1614	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGAGCCAG	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF111,hmmpanther:PTHR11616,PROSITE_profiles:PS50267,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000339260	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000343164	Transcript	.	.	ENSG00000010379	11046	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S6A13_HUMAN	SLC6A13	HGNC	.	.	UPI0000046060	SNV	SLC6A13,synonymous_variant,p.%3D,ENST00000445055,;SLC6A13,synonymous_variant,p.%3D,ENST00000343164,;SLC6A13,downstream_gene_variant,,ENST00000542379,;SLC6A13,downstream_gene_variant,,ENST00000539668,;SLC6A13,downstream_gene_variant,,ENST00000543722,;SLC6A13,downstream_gene_variant,,ENST00000542947,;	1667	57	60	SUCCESS
KCNA1	3736	.	GRCh37	12	5020868	5020868	+	synonymous_variant	Silent	SNP	G	G	T	rs760261969	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	88	0	ENST00000382545.3:c.324G>T	p.Val108=	p.V108=	ENST00000382545	NM_000217.2	108	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8535.1	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGTGCCCCT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF02214,Gene3D:3.30.710.10,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	rs760261969	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,synonymous_variant,p.%3D,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	1431	88	62	SUCCESS
ITGA5	3678	.	GRCh37	12	54798981	54798981	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	27	131	0	ENST00000293379.4:c.1194C>A	p.Pro398=	p.P398=	ENST00000293379	NM_002205.2	398	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8880.1	1194	RADIA|MUTECT|MUSE	.	CCCAGGGGGGT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF3,Gene3D:3nigC00,Pfam_domain:PF01839,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000293379	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000293379	Transcript	.	.	ENSG00000161638	6141	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITA5_HUMAN	ITGA5	HGNC	.	.	UPI000012D9F3	SNV	ITGA5,synonymous_variant,p.%3D,ENST00000293379,;RP11-753H16.5,intron_variant,,ENST00000552785,;RP11-753H16.3,intron_variant,,ENST00000550474,;ITGA5,3_prime_UTR_variant,,ENST00000435631,;ITGA5,3_prime_UTR_variant,,ENST00000553071,;ITGA5,non_coding_transcript_exon_variant,,ENST00000552564,;ITGA5,upstream_gene_variant,,ENST00000550141,;ITGA5,upstream_gene_variant,,ENST00000552387,;ITGA5,upstream_gene_variant,,ENST00000551861,;ITGA5,upstream_gene_variant,,ENST00000551564,;ITGA5,upstream_gene_variant,,ENST00000552583,;	1456	131	140	SUCCESS
ITGA5	3678	.	GRCh37	12	54799001	54799001	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	24	129	0	ENST00000293379.4:c.1174T>G	p.Phe392Val	p.F392V	ENST00000293379	NM_002205.2	392	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS8880.1	1174	RADIA|MUTECT|MUSE	.	GCCAAATCGGC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF3,Gene3D:3nigC00,Pfam_domain:PF01839,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000293379	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000293379	Transcript	.	.	ENSG00000161638	6141	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ITA5_HUMAN	ITGA5	HGNC	.	.	UPI000012D9F3	SNV	ITGA5,missense_variant,p.Phe392Val,ENST00000293379,;RP11-753H16.5,intron_variant,,ENST00000552785,;RP11-753H16.3,intron_variant,,ENST00000550474,;ITGA5,3_prime_UTR_variant,,ENST00000435631,;ITGA5,3_prime_UTR_variant,,ENST00000553071,;ITGA5,non_coding_transcript_exon_variant,,ENST00000552564,;ITGA5,upstream_gene_variant,,ENST00000550141,;ITGA5,upstream_gene_variant,,ENST00000552387,;ITGA5,upstream_gene_variant,,ENST00000551861,;ITGA5,upstream_gene_variant,,ENST00000551564,;ITGA5,upstream_gene_variant,,ENST00000552583,;	1436	129	143	SUCCESS
DGKA	1606	.	GRCh37	12	56346937	56346937	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1472954760	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	52	0	ENST00000331886.5:c.2056A>G	p.Thr686Ala	p.T686A	ENST00000331886	NM_001345.4	686	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8896.1	2056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCACCTTC	NONE	.	.	Superfamily_domains:SSF111331,SMART_domains:SM00045,Pfam_domain:PF00609,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF38	.	.	ENSP00000328405	.	22/24	.	.	.	.	.	.	.	.	COSM3812516	22/24	PASS	ENST00000331886	Transcript	.	.	ENSG00000065357	2849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	1	DGKA_HUMAN	DGKA	HGNC	G3V4I3_HUMAN,G3V327_HUMAN,F8W1M3_HUMAN,F8W1H7_HUMAN,F8VWX8_HUMAN,F8VNZ9_HUMAN,C9JM35_HUMAN	.	UPI000007417B	SNV	DGKA,missense_variant,p.Thr686Ala,ENST00000394147,;DGKA,missense_variant,p.Thr686Ala,ENST00000331886,;DGKA,missense_variant,p.Thr686Ala,ENST00000551156,;PMEL,downstream_gene_variant,,ENST00000550447,;PMEL,downstream_gene_variant,,ENST00000546543,;PMEL,downstream_gene_variant,,ENST00000550464,;PMEL,downstream_gene_variant,,ENST00000539511,;PMEL,downstream_gene_variant,,ENST00000536427,;PMEL,downstream_gene_variant,,ENST00000549404,;DGKA,downstream_gene_variant,,ENST00000555218,;DGKA,downstream_gene_variant,,ENST00000552903,;PMEL,downstream_gene_variant,,ENST00000552882,;PMEL,downstream_gene_variant,,ENST00000360714,;PMEL,downstream_gene_variant,,ENST00000548493,;PMEL,downstream_gene_variant,,ENST00000449260,;PMEL,downstream_gene_variant,,ENST00000548747,;PMEL,downstream_gene_variant,,ENST00000547137,;PMEL,downstream_gene_variant,,ENST00000548803,;DGKA,non_coding_transcript_exon_variant,,ENST00000549079,;PMEL,downstream_gene_variant,,ENST00000549564,;PMEL,downstream_gene_variant,,ENST00000548689,;DGKA,3_prime_UTR_variant,,ENST00000402956,;DGKA,non_coding_transcript_exon_variant,,ENST00000550957,;DGKA,non_coding_transcript_exon_variant,,ENST00000552478,;DGKA,non_coding_transcript_exon_variant,,ENST00000551739,;DGKA,non_coding_transcript_exon_variant,,ENST00000551296,;DGKA,downstream_gene_variant,,ENST00000553084,;PMEL,downstream_gene_variant,,ENST00000550762,;PMEL,downstream_gene_variant,,ENST00000556802,;DGKA,upstream_gene_variant,,ENST00000548491,;DGKA,downstream_gene_variant,,ENST00000551585,;	2510	52	67	SUCCESS
SMARCC2	6601	.	GRCh37	12	56575848	56575848	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	38	104	0	ENST00000267064.4:c.648C>A	p.Ile216=	p.I216=	ENST00000267064	NM_003075.3	216	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8907.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGATCCA	NONE	.	.	hmmpanther:PTHR12802:SF38,hmmpanther:PTHR12802,SMART_domains:SM00298	.	.	ENSP00000267064	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	SNV	SMARCC2,synonymous_variant,p.%3D,ENST00000267064,;SMARCC2,synonymous_variant,p.%3D,ENST00000550164,;SMARCC2,synonymous_variant,p.%3D,ENST00000394023,;SMARCC2,synonymous_variant,p.%3D,ENST00000347471,;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550859,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,3_prime_UTR_variant,,ENST00000550519,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000549757,;SMARCC2,downstream_gene_variant,,ENST00000552627,;SMARCC2,downstream_gene_variant,,ENST00000550150,;SMARCC2,upstream_gene_variant,,ENST00000548130,;SMARCC2,upstream_gene_variant,,ENST00000552566,;SMARCC2,downstream_gene_variant,,ENST00000547356,;	735	104	133	SUCCESS
NACA	4666	.	GRCh37	12	57110811	57110811	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	32	0	ENST00000356769.3:c.71-2340G>A		p.*24*	ENST00000356769	NM_001113202.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44925.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCCCCAT	NONE	.	.	.	.	.	ENSP00000448035	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,synonymous_variant,p.%3D,ENST00000454682,;NACA,intron_variant,,ENST00000546862,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000356769,;NACA,intron_variant,,ENST00000550952,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000550920,;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551793,;NACA,upstream_gene_variant,,ENST00000550343,;NACA,upstream_gene_variant,,ENST00000548386,;NACA,intron_variant,,ENST00000548084,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000551520,;NACA,upstream_gene_variant,,ENST00000546410,;	.	32	39	SUCCESS
PTPRB	5787	.	GRCh37	12	70928714	70928714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	75	0	ENST00000261266.5:c.5449C>A	p.Pro1817Thr	p.P1817T	ENST00000261266	NM_002837.4	1817	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS44943.1	6103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGCCAGT	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000334928	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Pro1727Thr,ENST00000538708,;PTPRB,missense_variant,p.Pro1817Thr,ENST00000261266,;PTPRB,missense_variant,p.Pro2035Thr,ENST00000334414,;PTPRB,missense_variant,p.Pro1947Thr,ENST00000550358,;PTPRB,missense_variant,p.Pro1727Thr,ENST00000451516,;PTPRB,missense_variant,p.Pro1727Thr,ENST00000550857,;RP11-588H23.3,intron_variant,,ENST00000547656,;RP11-588H23.3,intron_variant,,ENST00000548687,;RP11-588H23.3,intron_variant,,ENST00000551438,;RP11-588H23.3,intron_variant,,ENST00000546836,;RP11-588H23.3,intron_variant,,ENST00000549460,;PTPRB,downstream_gene_variant,,ENST00000549400,;	6148	75	90	SUCCESS
SLC6A15	55117	.	GRCh37	12	85279833	85279833	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772986380	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	55	92	0	ENST00000266682.5:c.304C>A	p.Pro102Thr	p.P102T	ENST00000266682	NM_182767.5	102	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9026.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGGTAAAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000266682	.	3/12	.	.	.	.	.	.	.	.	rs772986380	3/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Pro102Thr,ENST00000450363,;SLC6A15,missense_variant,p.Pro102Thr,ENST00000266682,;SLC6A15,5_prime_UTR_variant,,ENST00000552192,;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,intron_variant,,ENST00000547240,;	846	92	168	SUCCESS
RASSF9	9182	.	GRCh37	12	86230041	86230041	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	26	0	ENST00000361228.3:c.-62A>G		p.*21*	ENST00000361228	NM_005447.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44950.1	.	RADIA|MUTECT|MUSE	.	GGGGGTGTCTG	NONE	.	.	.	.	.	ENSP00000354884	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000361228	Transcript	.	.	ENSG00000198774	15739	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RASF9_HUMAN	RASSF9	HGNC	.	.	UPI000003E7E4	SNV	RASSF9,5_prime_UTR_variant,,ENST00000361228,;	308	26	28	SUCCESS
A2M	2	.	GRCh37	12	9262919	9262919	+	synonymous_variant	Silent	SNP	T	T	C	rs1407483466	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	23	0	ENST00000318602.7:c.495A>G	p.Val165=	p.V165=	ENST00000318602	NM_000014.4	165	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS44827.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTATACTAG	NONE	.	.	hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412,Pfam_domain:PF01835	.	.	ENSP00000323929	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	SNV	A2M,synonymous_variant,p.%3D,ENST00000404455,;A2M,synonymous_variant,p.%3D,ENST00000318602,;A2M,upstream_gene_variant,,ENST00000545828,;A2M,downstream_gene_variant,,ENST00000497324,;A2M,downstream_gene_variant,,ENST00000467091,;A2M,3_prime_UTR_variant,,ENST00000539638,;	803	23	34	SUCCESS
TPTE2	93492	.	GRCh37	13	20056675	20056675	+	synonymous_variant	Silent	SNP	T	T	C	rs1208340687	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	326	128	243	0	ENST00000400230.2:c.132A>G	p.Arg44=	p.R44=	ENST00000400230		44	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS45014.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGTCGTTC	BUFFER|p.E43A|c.128A>C|3,BUFFER|p.M41V|c.121A>G|5	.	.	.	.	.	ENSP00000383089	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000400230	Transcript	.	.	ENSG00000132958	17299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPTE2_HUMAN	TPTE2	HGNC	.	.	UPI000040738D	SNV	TPTE2,synonymous_variant,p.%3D,ENST00000382977,;TPTE2,synonymous_variant,p.%3D,ENST00000457266,;TPTE2,synonymous_variant,p.%3D,ENST00000382975,;TPTE2,synonymous_variant,p.%3D,ENST00000382978,;TPTE2,synonymous_variant,p.%3D,ENST00000400103,;TPTE2,synonymous_variant,p.%3D,ENST00000400230,;TPTE2,intron_variant,,ENST00000255310,;TPTE2,intron_variant,,ENST00000390680,;TPTE2,intron_variant,,ENST00000462409,;	177	243	454	SUCCESS
TPTE2	93492	.	GRCh37	13	20067639	20067639	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1186420189	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	22	0	ENST00000400230.2:c.14C>T	p.Pro5Leu	p.P5L	ENST00000400230		5	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS45014.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGGACTA	BUFFER|p.E9K|c.25G>A|3,BUFFER|p.E9K|c.25G>A|3	.	.	.	.	.	ENSP00000383089	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000400230	Transcript	.	.	ENSG00000132958	17299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	deleterious_low_confidence(0.01)	.	TPTE2_HUMAN	TPTE2	HGNC	.	.	UPI000040738D	SNV	TPTE2,missense_variant,p.Pro5Leu,ENST00000382977,;TPTE2,missense_variant,p.Pro5Leu,ENST00000255310,;TPTE2,missense_variant,p.Pro5Leu,ENST00000457266,;TPTE2,missense_variant,p.Pro5Leu,ENST00000382975,;TPTE2,missense_variant,p.Pro5Leu,ENST00000382978,;TPTE2,missense_variant,p.Pro5Leu,ENST00000390680,;TPTE2,missense_variant,p.Pro5Leu,ENST00000400103,;TPTE2,missense_variant,p.Pro5Leu,ENST00000400230,;TPTE2,missense_variant,p.Pro5Leu,ENST00000462409,;	59	22	32	SUCCESS
SACS	26278	.	GRCh37	13	23909684	23909684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	30	0	ENST00000382292.3:c.8331G>T	p.Arg2777Ser	p.R2777S	ENST00000382292		2777	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9300.2	8331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCCTTTT	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Arg2777Ser,ENST00000382292,;SACS,missense_variant,p.Arg2027Ser,ENST00000402364,;SACS,missense_variant,p.Arg2777Ser,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	8920	30	47	SUCCESS
RFC3	5983	.	GRCh37	13	34398092	34398092	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	602	16	466	0	ENST00000380071.3:c.264A>G	p.Ala88=	p.A88=	ENST00000380071	NM_002915.3	88	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9352.1	264	MUTECT|MUSE	.	ATTGCAAGTAA	NONE	.	.	hmmpanther:PTHR11669,hmmpanther:PTHR11669:SF1,Pfam_domain:PF13177,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000369411	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000380071	Transcript	.	.	ENSG00000133119	9971	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFC3_HUMAN	RFC3	HGNC	.	.	UPI0000125168	SNV	RFC3,synonymous_variant,p.%3D,ENST00000434425,;RFC3,synonymous_variant,p.%3D,ENST00000380071,;	394	466	618	SUCCESS
ENOX1	55068	.	GRCh37	13	43918692	43918692	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	41	109	0	ENST00000261488.6:c.1018A>G	p.Thr340Ala	p.T340A	ENST00000261488	NM_017993.3	340	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9389.1	1018	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTTAAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16001:SF6,hmmpanther:PTHR16001	.	.	ENSP00000261488	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000261488	Transcript	.	.	ENSG00000120658	25474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.84)	.	ENOX1_HUMAN	ENOX1	HGNC	.	.	UPI0000071D6F	SNV	ENOX1,missense_variant,p.Thr340Ala,ENST00000412891,;ENOX1,missense_variant,p.Thr153Ala,ENST00000540032,;ENOX1,missense_variant,p.Thr340Ala,ENST00000261488,;	1596	109	132	SUCCESS
COG3	83548	.	GRCh37	13	46067517	46067517	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	42	73	0	ENST00000349995.5:c.1223A>T	p.Asp408Val	p.D408V	ENST00000349995	NM_031431.3	408	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS9398.1	1223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGATGTCT	NONE	.	.	hmmpanther:PTHR13302	.	.	ENSP00000258654	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000349995	Transcript	.	.	ENSG00000136152	18619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	COG3_HUMAN	COG3	HGNC	.	.	UPI0000366968	SNV	COG3,missense_variant,p.Asp408Val,ENST00000349995,;COG3,non_coding_transcript_exon_variant,,ENST00000465942,;	1335	73	120	SUCCESS
COG3	83548	.	GRCh37	13	46104830	46104830	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs990065757	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	48	0	ENST00000349995.5:c.2372A>G	p.Gln791Arg	p.Q791R	ENST00000349995	NM_031431.3	791	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS9398.1	2372	MUTECT|MUSE	.	TCAGCAAGTCT	NONE	.	.	hmmpanther:PTHR13302	.	.	ENSP00000258654	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000349995	Transcript	.	.	ENSG00000136152	18619	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.16)	.	COG3_HUMAN	COG3	HGNC	.	.	UPI0000366968	SNV	COG3,missense_variant,p.Gln791Arg,ENST00000349995,;COG3,non_coding_transcript_exon_variant,,ENST00000486940,;FAM194B,downstream_gene_variant,,ENST00000504261,;	2484	48	69	SUCCESS
MIR17HG	407975	.	GRCh37	13	92003357	92003357	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	68	0	ENST00000582141.1:n.1546T>C		p.*516*	ENST00000582141				0	.	.	.	.	.	C	.	retained_intron	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTTATCTA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000582141	Transcript	.	.	ENSG00000215417	23564	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR17HG	HGNC	.	.	.	SNV	MIR17HG,non_coding_transcript_exon_variant,,ENST00000362279,;MIR17HG,non_coding_transcript_exon_variant,,ENST00000581816,;MIR17HG,intron_variant,,ENST00000400282,;MIR17HG,downstream_gene_variant,,ENST00000362310,;MIR17HG,upstream_gene_variant,,ENST00000385233,;MIR17HG,downstream_gene_variant,,ENST00000384878,;MIR17HG,downstream_gene_variant,,ENST00000385012,;MIR17HG,upstream_gene_variant,,ENST00000384829,;MIR17HG,non_coding_transcript_exon_variant,,ENST00000582141,;	1546	68	83	SUCCESS
INF2	64423	.	GRCh37	14	105180664	105180664	+	synonymous_variant	Silent	SNP	C	C	A	rs766456624	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	42	0	ENST00000392634.4:c.3165C>A	p.Pro1055=	p.P1055=	ENST00000392634	NM_022489.3	1055	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9989.2	3165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCGGCCC	NONE	byFrequency	.	hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213	.	.	ENSP00000376410	.	21/23	.	.	.	.	.	.	.	.	rs766456624	21/23	PASS	ENST00000392634	Transcript	1	.	ENSG00000203485	23791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,synonymous_variant,p.%3D,ENST00000252527,;INF2,synonymous_variant,p.%3D,ENST00000330634,;INF2,synonymous_variant,p.%3D,ENST00000392634,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,downstream_gene_variant,,ENST00000474229,;INF2,downstream_gene_variant,,ENST00000477497,;INF2,downstream_gene_variant,,ENST00000480763,;	3277	42	57	SUCCESS
RNF31	55072	.	GRCh37	14	24617276	24617276	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	36	0	ENST00000324103.6:c.284G>A	p.Trp95Ter	p.W95*	ENST00000324103	NM_017999.4	95	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS41931.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTGGCGTG	NONE	.	.	hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1,Pfam_domain:PF09409,Superfamily_domains:0052385	.	.	ENSP00000315112	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000324103	Transcript	.	.	ENSG00000092098	16031	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF31_HUMAN	RNF31	HGNC	H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN	.	UPI0000072F93	SNV	RNF31,stop_gained,p.Trp95Ter,ENST00000557991,;RNF31,stop_gained,p.Trp95Ter,ENST00000324103,;RNF31,5_prime_UTR_variant,,ENST00000559533,;RNF31,5_prime_UTR_variant,,ENST00000560071,;RNF31,5_prime_UTR_variant,,ENST00000559308,;RNF31,5_prime_UTR_variant,,ENST00000559275,;RNF31,5_prime_UTR_variant,,ENST00000559260,;PSME2,upstream_gene_variant,,ENST00000216802,;PSME2,upstream_gene_variant,,ENST00000559056,;RNF31,upstream_gene_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000560875,;RNF31,upstream_gene_variant,,ENST00000382687,;PSME2,upstream_gene_variant,,ENST00000560410,;RNF31,splice_region_variant,,ENST00000559882,;RNF31,non_coding_transcript_exon_variant,,ENST00000558634,;RNF31,non_coding_transcript_exon_variant,,ENST00000559438,;RNF31,non_coding_transcript_exon_variant,,ENST00000557878,;PSME2,upstream_gene_variant,,ENST00000471700,;PSME2,upstream_gene_variant,,ENST00000559613,;PSME2,upstream_gene_variant,,ENST00000561103,;RNF31,upstream_gene_variant,,ENST00000559583,;RNF31,stop_gained,p.Trp31Ter,ENST00000558907,;RNF31,non_coding_transcript_exon_variant,,ENST00000560342,;RNF31,intron_variant,,ENST00000491351,;PSME2,upstream_gene_variant,,ENST00000560370,;PSME2,upstream_gene_variant,,ENST00000560788,;PSME2,upstream_gene_variant,,ENST00000559042,;PSME2,upstream_gene_variant,,ENST00000559005,;PSME2,upstream_gene_variant,,ENST00000559359,;PSME2,upstream_gene_variant,,ENST00000558273,;RP11-468E2.4,upstream_gene_variant,,ENST00000558468,;RNF31,upstream_gene_variant,,ENST00000559071,;PSME2,upstream_gene_variant,,ENST00000559453,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000558931,;PSME2,upstream_gene_variant,,ENST00000560592,;	604	36	43	SUCCESS
GZMB	3002	.	GRCh37	14	25103382	25103382	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs753724472	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	35	0	ENST00000216341.4:c.-16C>T		p.*6*	ENST00000216341				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9633.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGCCCTG	NONE	.	.	.	.	.	ENSP00000216341	.	1/5	.	.	.	.	.	.	.	.	rs753724472	1/5	PASS	ENST00000216341	Transcript	.	.	ENSG00000100453	4709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAB_HUMAN	GZMB	HGNC	.	.	UPI000004E7FD	SNV	GZMB,synonymous_variant,p.%3D,ENST00000382542,;GZMB,5_prime_UTR_variant,,ENST00000382540,;GZMB,5_prime_UTR_variant,,ENST00000415355,;GZMB,5_prime_UTR_variant,,ENST00000216341,;GZMB,5_prime_UTR_variant,,ENST00000526004,;RP11-104E19.1,intron_variant,,ENST00000555300,;RP11-104E19.1,intron_variant,,ENST00000557736,;GZMB,upstream_gene_variant,,ENST00000532263,;GZMB,upstream_gene_variant,,ENST00000530830,;GZMB,upstream_gene_variant,,ENST00000554242,;	92	35	60	SUCCESS
GPHN	10243	.	GRCh37	14	67291253	67291253	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	72	0	ENST00000315266.5:c.263del	p.Thr88LysfsTer16	p.T88Kfs*16	ENST00000315266	NM_001024218.1	88	aCa/aa	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS9777.1	263	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGAACAGGAT	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,PROSITE_patterns:PS01078,Pfam_domain:PF00994,Gene3D:3.40.980.10,TIGRFAM_domain:TIGR00177,SMART_domains:SM00852,Superfamily_domains:SSF53218	.	.	ENSP00000417901	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	deletion	GPHN,frameshift_variant,p.Thr88LysfsTer29,ENST00000543237,;GPHN,frameshift_variant,p.Thr21LysfsTer16,ENST00000555456,;GPHN,frameshift_variant,p.Thr88LysfsTer16,ENST00000315266,;GPHN,frameshift_variant,p.Thr88LysfsTer16,ENST00000478722,;GPHN,intron_variant,,ENST00000459628,;GPHN,intron_variant,,ENST00000305960,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,non_coding_transcript_exon_variant,,ENST00000556020,;GPHN,3_prime_UTR_variant,,ENST00000555668,;GPHN,3_prime_UTR_variant,,ENST00000556633,;GPHN,3_prime_UTR_variant,,ENST00000557654,;GPHN,3_prime_UTR_variant,,ENST00000553936,;	1384	72	120	SUCCESS
PLEKHH1	57475	.	GRCh37	14	68046545	68046545	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs987704024	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	42	0	ENST00000329153.5:c.3135C>A	p.Asp1045Glu	p.D1045E	ENST00000329153	NM_020715.2	1045	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS45128.1	3135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGACGATCC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,SMART_domains:SM00295	.	.	ENSP00000330278	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000329153	Transcript	.	.	ENSG00000054690	17733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	deleterious(0)	.	PKHH1_HUMAN	PLEKHH1	HGNC	B3KWD2_HUMAN	.	UPI00001C1F64	SNV	PLEKHH1,missense_variant,p.Asp1045Glu,ENST00000329153,;PLEKHH1,5_prime_UTR_variant,,ENST00000417684,;PIGH,downstream_gene_variant,,ENST00000561272,;PLEKHH1,missense_variant,p.Asp119Glu,ENST00000561370,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558296,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000560100,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,upstream_gene_variant,,ENST00000561057,;PLEKHH1,downstream_gene_variant,,ENST00000558981,;PLEKHH1,upstream_gene_variant,,ENST00000559981,;PLEKHH1,upstream_gene_variant,,ENST00000558366,;	3267	42	50	SUCCESS
SERPINA10	51156	.	GRCh37	14	94752462	94752462	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	52	0	ENST00000261994.4:c.1126A>C	p.Asn376His	p.N376H	ENST00000261994	NM_001100607.2	376	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS9923.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATTTCTTC	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF31,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000376809	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000393096	Transcript	.	.	ENSG00000140093	15996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.48)	.	ZPI_HUMAN	SERPINA10	HGNC	.	.	UPI000013C46E	SNV	SERPINA10,missense_variant,p.Asn376His,ENST00000393096,;SERPINA10,missense_variant,p.Asn376His,ENST00000261994,;SERPINA10,missense_variant,p.Asn376His,ENST00000554173,;SERPINA10,missense_variant,p.Asn416His,ENST00000554723,;	1592	52	78	SUCCESS
NPAP1	23742	.	GRCh37	15	24923532	24923532	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	35	0	ENST00000329468.2:c.2518T>A	p.Phe840Ile	p.F840I	ENST00000329468	NM_018958.2	840	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS10015.1	2518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCTTTGTC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.4)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Phe840Ile,ENST00000329468,;	2992	35	51	SUCCESS
KLF13	51621	.	GRCh37	15	31619847	31619852	+	inframe_deletion	In_Frame_Del	DEL	GCCCGG	GCCCGG	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	GCCCGG	GCCCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	58	0	ENST00000307145.3:c.432_437del	p.Glu144_Gly146delinsAsp	p.E144_G146delinsD	ENST00000307145	NM_015995.2	144	gaGCCCGGc/gac	0	.	.	.	.	.	-	EPG/D	protein_coding	YES	CCDS10025.1	432-437	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCGAGCCCGGCCTCA	NONE	.	.	hmmpanther:PTHR23223:SF142,hmmpanther:PTHR23223	.	.	ENSP00000302456	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000307145	Transcript	.	.	ENSG00000169926	13672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLF13_HUMAN	KLF13	HGNC	.	.	UPI000012DEDC	deletion	KLF13,inframe_deletion,p.Glu144_Gly146delinsAsp,ENST00000307145,;KLF13,non_coding_transcript_exon_variant,,ENST00000558921,;	790-795	58	32	SUCCESS
SPINT1	6692	.	GRCh37	15	41136861	41136861	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	134	0	ENST00000344051.4:c.109C>T	p.Pro37Ser	p.P37S	ENST00000344051		37	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10067.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCCACCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10083:SF174,hmmpanther:PTHR10083	.	.	ENSP00000342098	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000344051	Transcript	.	.	ENSG00000166145	11246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated(0.68)	.	SPIT1_HUMAN	SPINT1	HGNC	H3BTQ8_HUMAN	.	UPI00001AE46F	SNV	SPINT1,missense_variant,p.Pro37Ser,ENST00000563656,;SPINT1,missense_variant,p.Pro37Ser,ENST00000562057,;SPINT1,missense_variant,p.Pro37Ser,ENST00000431806,;SPINT1,missense_variant,p.Pro99Ser,ENST00000568823,;SPINT1,missense_variant,p.Pro37Ser,ENST00000344051,;SPINT1,upstream_gene_variant,,ENST00000568580,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;	343	134	105	SUCCESS
PDIA3	2923	.	GRCh37	15	44060746	44060746	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	47	0	ENST00000300289.5:c.1088G>T	p.Arg363Ile	p.R363I	ENST00000300289	NM_005313.4	363	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS10101.1	1088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGATACC	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF60,TIGRFAM_domain:TIGR01130,Superfamily_domains:SSF52833,Superfamily_domains:SSF52833	.	.	ENSP00000300289	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000300289	Transcript	.	.	ENSG00000167004	4606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	deleterious(0.02)	.	PDIA3_HUMAN	PDIA3	HGNC	.	.	UPI0000052A4F	SNV	PDIA3,missense_variant,p.Arg363Ile,ENST00000300289,;PDIA3,missense_variant,p.Arg343Ile,ENST00000538521,;ELL3,downstream_gene_variant,,ENST00000319359,;ELL3,downstream_gene_variant,,ENST00000497465,;PDIA3,3_prime_UTR_variant,,ENST00000434494,;RP11-296A16.1,downstream_gene_variant,,ENST00000417761,;PDIA3,downstream_gene_variant,,ENST00000455250,;PDIA3,upstream_gene_variant,,ENST00000497349,;ELL3,downstream_gene_variant,,ENST00000467869,;	1236	47	77	SUCCESS
RORA	6095	.	GRCh37	15	60803529	60803529	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	76	0	ENST00000335670.6:c.716T>C	p.Ile239Thr	p.I239T	ENST00000335670	NM_134261.2	239	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS10179.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGATTCCA	NONE	.	.	hmmpanther:PTHR24082:SF108,hmmpanther:PTHR24082	.	.	ENSP00000261523	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000261523	Transcript	.	.	ENSG00000069667	10258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.15)	.	RORA_HUMAN	RORA	HGNC	.	.	UPI0000134548	SNV	RORA,missense_variant,p.Ile239Thr,ENST00000335670,;RORA,missense_variant,p.Ile272Thr,ENST00000261523,;RORA,missense_variant,p.Ile184Thr,ENST00000449337,;RORA,missense_variant,p.Ile264Thr,ENST00000309157,;RORA,downstream_gene_variant,,ENST00000559343,;RP11-219B17.1,intron_variant,,ENST00000559902,;RP11-219B17.1,intron_variant,,ENST00000559824,;RP11-219B17.1,intron_variant,,ENST00000558140,;RP11-219B17.1,intron_variant,,ENST00000558235,;RP11-219B17.1,intron_variant,,ENST00000501579,;RORA,non_coding_transcript_exon_variant,,ENST00000559587,;RORA,downstream_gene_variant,,ENST00000560004,;RORA,3_prime_UTR_variant,,ENST00000551975,;	904	76	96	SUCCESS
DENND4A	10260	.	GRCh37	15	65962168	65962168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	60	0	ENST00000431932.2:c.4604C>T	p.Ser1535Phe	p.S1535F	ENST00000431932	NM_005848.3	1535	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS53949.1	4733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGAGGCT	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	27/33	.	.	.	.	.	.	.	.	.	27/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.31)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Ser1578Phe,ENST00000443035,;DENND4A,missense_variant,p.Ser1535Phe,ENST00000431932,;DENND4A,upstream_gene_variant,,ENST00000562540,;	4949	60	98	SUCCESS
CCDC33	80125	.	GRCh37	15	74559069	74559069	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	25	54	0	ENST00000398814.3:c.370T>A	p.Tyr124Asn	p.Y124N	ENST00000398814	NM_025055.4	124	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS42058.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTACAAA	NONE	.	.	Superfamily_domains:SSF49562,hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF2	.	.	ENSP00000381795	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000398814	Transcript	.	.	ENSG00000140481	26552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	CCD33_HUMAN	CCDC33	HGNC	.	.	UPI0000E671FE	SNV	CCDC33,missense_variant,p.Tyr327Asn,ENST00000321288,;CCDC33,missense_variant,p.Tyr5Asn,ENST00000558659,;CCDC33,missense_variant,p.Tyr124Asn,ENST00000398814,;	801	54	89	SUCCESS
KIAA1199	0	.	GRCh37	15	81171081	81171081	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371278679	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	37	0	ENST00000220244.3:c.114C>A	p.Asp38Glu	p.D38E	ENST00000220244	NM_018689.1	38	gaC/gaA	0	A:0.0002	.	.	.	.	A	D/E	protein_coding	YES	CCDS10315.1	114	MUTECT|MUSE	.	CCTGACCAGAG	NONE	byCluster	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	A:0	ENSP00000378177	.	4/30	.	.	.	.	.	.	.	.	rs371278679	4/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	deleterious(0.03)	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	SNV	KIAA1199,missense_variant,p.Asp38Glu,ENST00000356249,;KIAA1199,missense_variant,p.Asp38Glu,ENST00000220244,;KIAA1199,missense_variant,p.Asp38Glu,ENST00000394685,;	533	37	39	SUCCESS
TMC3	342125	.	GRCh37	15	81635637	81635637	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	45	0	ENST00000359440.5:c.1697A>T	p.Tyr566Phe	p.Y566F	ENST00000359440	NM_001080532.1	566	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS45324.1	1697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTAGACT	NONE	.	.	Pfam_domain:PF07810,hmmpanther:PTHR23302:SF35,hmmpanther:PTHR23302	.	.	ENSP00000352413	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000359440	Transcript	.	.	ENSG00000188869	22995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	tolerated(0.55)	.	TMC3_HUMAN	TMC3	HGNC	.	.	UPI00006C154A	SNV	TMC3,missense_variant,p.Tyr566Phe,ENST00000359440,;TMC3,missense_variant,p.Tyr567Phe,ENST00000558726,;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;RP11-761I4.3,downstream_gene_variant,,ENST00000560973,;RP11-761I4.3,downstream_gene_variant,,ENST00000559277,;TMC3,non_coding_transcript_exon_variant,,ENST00000559982,;	1833	45	102	SUCCESS
GDE1	51573	.	GRCh37	16	19514862	19514862	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	12	48	0	ENST00000353258.3:c.926A>C	p.Tyr309Ser	p.Y309S	ENST00000353258	NM_016641.3	309	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS10578.1	926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAGTAACTC	NONE	.	.	PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF10,Pfam_domain:PF03009,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000261386	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000353258	Transcript	.	.	ENSG00000006007	29644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	GDE1_HUMAN	GDE1	HGNC	.	.	UPI000003776E	SNV	GDE1,missense_variant,p.Tyr309Ser,ENST00000353258,;TMC5,downstream_gene_variant,,ENST00000219821,;GDE1,downstream_gene_variant,,ENST00000569899,;TMC5,downstream_gene_variant,,ENST00000381414,;TMC5,downstream_gene_variant,,ENST00000396229,;GDE1,downstream_gene_variant,,ENST00000569773,;TMC5,downstream_gene_variant,,ENST00000542583,;RNU4-46P,downstream_gene_variant,,ENST00000410818,;CTA-363E6.7,downstream_gene_variant,,ENST00000569345,;GDE1,3_prime_UTR_variant,,ENST00000564172,;GDE1,non_coding_transcript_exon_variant,,ENST00000563645,;	1107	48	89	SUCCESS
CCNF	899	.	GRCh37	16	2483037	2483037	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	44	0	ENST00000397066.4:c.247C>A	p.Pro83Thr	p.P83T	ENST00000397066	NM_001761.2	83	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS10467.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCGTCT	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF183,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	.	.	ENSP00000380256	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000397066	Transcript	.	.	ENSG00000162063	1591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCNF_HUMAN	CCNF	HGNC	.	.	UPI0000127595	SNV	CCNF,missense_variant,p.Pro83Thr,ENST00000397066,;CCNF,non_coding_transcript_exon_variant,,ENST00000569093,;CCNF,intron_variant,,ENST00000293968,;CCNF,upstream_gene_variant,,ENST00000564333,;	335	44	45	SUCCESS
N4BP1	9683	.	GRCh37	16	48596122	48596122	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	53	0	ENST00000262384.3:c.432A>C	p.Lys144Asn	p.K144N	ENST00000262384	NM_153029.3	144	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS45479.1	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTTTATT	NONE	.	.	hmmpanther:PTHR12876:SF26,hmmpanther:PTHR12876	.	.	ENSP00000262384	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000262384	Transcript	.	.	ENSG00000102921	29850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	N4BP1_HUMAN	N4BP1	HGNC	I3L3R7_HUMAN	.	UPI000013D2A2	SNV	N4BP1,missense_variant,p.Lys58Asn,ENST00000564710,;N4BP1,missense_variant,p.Lys144Asn,ENST00000262384,;RP11-44I10.3,intron_variant,,ENST00000563994,;N4BP1,non_coding_transcript_exon_variant,,ENST00000564124,;	669	53	79	SUCCESS
HEATR3	55027	.	GRCh37	16	50100277	50100277	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs532568579	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	36	0	ENST00000299192.7:c.139-1G>T		p.X47_splice	ENST00000299192	NM_182922.2	47		0	.	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS10739.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGCTCCA	NONE	by1000G	.	.	A:0	.	ENSP00000299192	A:0	.	.	.	.	.	.	.	.	.	rs532568579	.	PASS	ENST00000299192	Transcript	.	A:0.0002	ENSG00000155393	26087	.	.	HIGH	1/14	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,splice_acceptor_variant,,ENST00000299192,;HEATR3,intron_variant,,ENST00000285767,;RP11-429P3.3,upstream_gene_variant,,ENST00000568130,;HEATR3,intron_variant,,ENST00000561819,;HEATR3,splice_acceptor_variant,,ENST00000569324,;	.	36	42	SUCCESS
CHD9	80205	.	GRCh37	16	53340154	53340154	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	49	104	0	ENST00000398510.3:c.6625A>T	p.Thr2209Ser	p.T2209S	ENST00000398510		2209	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS45485.1	6625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTACTACT	NONE	.	.	.	.	.	ENSP00000457466	.	32/39	.	.	.	.	.	.	.	.	.	32/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Thr2209Ser,ENST00000566029,;CHD9,missense_variant,p.Thr2210Ser,ENST00000447540,;CHD9,missense_variant,p.Thr2209Ser,ENST00000564845,;CHD9,missense_variant,p.Thr2209Ser,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	6834	104	173	SUCCESS
RPGRIP1L	23322	.	GRCh37	16	53639514	53639514	+	synonymous_variant	Silent	SNP	G	G	C	rs538306358	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	26	0	ENST00000379925.3:c.3714C>G	p.Thr1238=	p.T1238=	ENST00000379925	NM_015272.2	1238	acC/acG	0	.	A:0	.	A:0	.	C	T	protein_coding	YES	CCDS32447.1	3714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACGGTGAA	NONE	by1000G	.	hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF4	A:0.001	.	ENSP00000369257	A:0	26/27	.	.	.	.	.	.	.	.	rs538306358	26/27	PASS	ENST00000379925	Transcript	.	A:0.0002	ENSG00000103494	29168	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FTM_HUMAN	RPGRIP1L	HGNC	J3QLR9_HUMAN,I3L2P2_HUMAN,H3BPF5_HUMAN	.	UPI000047DAF2	SNV	RPGRIP1L,synonymous_variant,p.%3D,ENST00000563746,;RPGRIP1L,synonymous_variant,p.%3D,ENST00000564374,;RPGRIP1L,synonymous_variant,p.%3D,ENST00000262135,;RPGRIP1L,synonymous_variant,p.%3D,ENST00000379925,;	3765	26	35	SUCCESS
KIFC3	3801	.	GRCh37	16	57794293	57794293	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	67	0	ENST00000379655.4:c.2268C>G	p.Leu756=	p.L756=	ENST00000379655	NM_005550.3	756	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10789.2	2268	MUTECT|MUSE	.	GAATAGAGCGT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF337,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000368976	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000379655	Transcript	.	.	ENSG00000140859	6326	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIFC3_HUMAN	KIFC3	HGNC	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN	.	UPI000059D399	SNV	KIFC3,synonymous_variant,p.%3D,ENST00000565270,;KIFC3,synonymous_variant,p.%3D,ENST00000539578,;KIFC3,synonymous_variant,p.%3D,ENST00000543930,;KIFC3,synonymous_variant,p.%3D,ENST00000379655,;KIFC3,synonymous_variant,p.%3D,ENST00000540079,;KIFC3,synonymous_variant,p.%3D,ENST00000421376,;KIFC3,synonymous_variant,p.%3D,ENST00000465878,;KIFC3,synonymous_variant,p.%3D,ENST00000445690,;KIFC3,synonymous_variant,p.%3D,ENST00000541240,;KIFC3,synonymous_variant,p.%3D,ENST00000562903,;KIFC3,intron_variant,,ENST00000565397,;KATNB1,downstream_gene_variant,,ENST00000563462,;KATNB1,downstream_gene_variant,,ENST00000379661,;KIFC3,downstream_gene_variant,,ENST00000563266,;KIFC3,3_prime_UTR_variant,,ENST00000564136,;KIFC3,intron_variant,,ENST00000565753,;KATNB1,downstream_gene_variant,,ENST00000569018,;KATNB1,downstream_gene_variant,,ENST00000562542,;KATNB1,downstream_gene_variant,,ENST00000566611,;	2526	67	40	SUCCESS
PSMB10	5699	.	GRCh37	16	67969964	67969964	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	59	0	ENST00000358514.4:c.285A>T	p.Thr95=	p.T95=	ENST00000358514	NM_002801.3	95	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10853.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGTGTGGT	NONE	.	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF41,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235	.	.	ENSP00000351314	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000358514	Transcript	.	.	ENSG00000205220	9538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB10_HUMAN	PSMB10	HGNC	.	.	UPI00001325EC	SNV	PSMB10,synonymous_variant,p.%3D,ENST00000358514,;CTRL,upstream_gene_variant,,ENST00000571605,;LCAT,downstream_gene_variant,,ENST00000264005,;CTRL,upstream_gene_variant,,ENST00000574481,;CTRL,upstream_gene_variant,,ENST00000571044,;PSMB10,upstream_gene_variant,,ENST00000574576,;LCAT,downstream_gene_variant,,ENST00000570980,;LCAT,downstream_gene_variant,,ENST00000570369,;CTRL,upstream_gene_variant,,ENST00000576408,;PSMB10,non_coding_transcript_exon_variant,,ENST00000570304,;PSMB10,non_coding_transcript_exon_variant,,ENST00000575556,;CTRL,upstream_gene_variant,,ENST00000575302,;PSMB10,upstream_gene_variant,,ENST00000570985,;CTRL,upstream_gene_variant,,ENST00000572144,;CTC-479C5.12,upstream_gene_variant,,ENST00000575231,;CTRL,upstream_gene_variant,,ENST00000576915,;LCAT,downstream_gene_variant,,ENST00000573538,;CTC-479C5.12,upstream_gene_variant,,ENST00000573493,;	623	59	41	SUCCESS
SF3B3	23450	.	GRCh37	16	70597888	70597888	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	74	0	ENST00000302516.5:c.2398A>T	p.Ile800Phe	p.I800F	ENST00000302516	NM_012426.4	800	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS10894.1	2398	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCATTGAA	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Superfamily_domains:SSF50978	.	.	ENSP00000305790	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.482)	.	deleterious(0)	.	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,missense_variant,p.Ile800Phe,ENST00000302516,;SF3B3,non_coding_transcript_exon_variant,,ENST00000562722,;SF3B3,non_coding_transcript_exon_variant,,ENST00000563739,;SF3B3,non_coding_transcript_exon_variant,,ENST00000568539,;	2609	74	92	SUCCESS
FBXL16	146330	.	GRCh37	16	747364	747364	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	14	0	ENST00000324361.5:c.42C>A	p.Cys14Ter	p.C14*	ENST00000324361		14	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS10421.1	42	MUTECT|MUSE	.	GGCAAGCATGG	NONE	.	.	hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF233	.	.	ENSP00000380746	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000397621	Transcript	.	.	ENSG00000127585	14150	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FXL16_HUMAN	FBXL16	HGNC	Q8N4J3_HUMAN,B3KR59_HUMAN	.	UPI0000141371	SNV	FBXL16,stop_gained,p.Cys14Ter,ENST00000324361,;FBXL16,stop_gained,p.Cys14Ter,ENST00000397621,;FBXL16,upstream_gene_variant,,ENST00000562563,;LA16c-313D11.12,downstream_gene_variant,,ENST00000566927,;FBXL16,upstream_gene_variant,,ENST00000562585,;FBXL16,upstream_gene_variant,,ENST00000562648,;LA16c-313D11.12,downstream_gene_variant,,ENST00000575305,;	374	14	20	SUCCESS
ZNRF1	84937	.	GRCh37	16	75033939	75033939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	66	0	ENST00000335325.4:c.370C>A	p.Leu124Met	p.L124M	ENST00000335325	NM_032268.4	124	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS10912.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGCTGGCG	NONE	.	.	hmmpanther:PTHR22764,hmmpanther:PTHR22764:SF62	.	.	ENSP00000335091	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000335325	Transcript	.	.	ENSG00000186187	18452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0.02)	.	ZNRF1_HUMAN	ZNRF1	HGNC	J3KTB9_HUMAN	.	UPI0000037DAA	SNV	ZNRF1,missense_variant,p.Leu124Met,ENST00000567962,;ZNRF1,missense_variant,p.Leu124Met,ENST00000320619,;ZNRF1,missense_variant,p.Leu124Met,ENST00000566250,;ZNRF1,missense_variant,p.Leu124Met,ENST00000335325,;ZNRF1,upstream_gene_variant,,ENST00000568511,;WDR59,non_coding_transcript_exon_variant,,ENST00000568323,;WDR59,upstream_gene_variant,,ENST00000562331,;ZNRF1,upstream_gene_variant,,ENST00000564320,;	1012	66	57	SUCCESS
MSLNL	401827	.	GRCh37	16	825262	825262	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	111	0	ENST00000442466.1:c.387C>T	p.Ala129=	p.A129=	ENST00000442466		129	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	.	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGGCTTC	NONE	.	.	hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15	.	.	ENSP00000293892	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000293892	Transcript	.	.	ENSG00000162006	14170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSLNL_HUMAN	MSLNL	HGNC	.	.	UPI0000072242	SNV	MSLNL,synonymous_variant,p.%3D,ENST00000293892,;MSLNL,synonymous_variant,p.%3D,ENST00000442466,;MSLNL,synonymous_variant,p.%3D,ENST00000543963,;MIR662,downstream_gene_variant,,ENST00000384847,;MSLNL,non_coding_transcript_exon_variant,,ENST00000537221,;	1365	111	88	SUCCESS
KIAA0513	9764	.	GRCh37	16	85112566	85112566	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	54	0	ENST00000258180.3:c.859G>T	p.Glu287Ter	p.E287*	ENST00000258180	NM_014732.2	287	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS32499.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGAGAAG	NONE	.	.	hmmpanther:PTHR13663:SF2,hmmpanther:PTHR13663	.	.	ENSP00000457408	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000566428	Transcript	.	.	ENSG00000135709	29058	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0513_HUMAN	KIAA0513	HGNC	.	.	UPI0000139A26	SNV	KIAA0513,stop_gained,p.Glu287Ter,ENST00000567328,;KIAA0513,stop_gained,p.Glu287Ter,ENST00000258180,;KIAA0513,stop_gained,p.Glu287Ter,ENST00000538274,;KIAA0513,stop_gained,p.Glu25Ter,ENST00000562564,;KIAA0513,stop_gained,p.Glu287Ter,ENST00000566428,;KIAA0513,stop_gained,p.Glu84Ter,ENST00000562580,;	1490	54	54	SUCCESS
ZFPM1	161882	.	GRCh37	16	88555560	88555560	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	48	0	ENST00000319555.3:c.267A>G		p.X89_splice	ENST00000319555	NM_153813.2	89	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32502.1	267	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCAGGTAA	NONE	.	.	hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF4	.	.	ENSP00000326630	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000319555	Transcript	.	.	ENSG00000179588	19762	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOG1_HUMAN	ZFPM1	HGNC	.	.	UPI000049DE26	SNV	ZFPM1,synonymous_variant,p.%3D,ENST00000319555,;ZFPM1,splice_region_variant,,ENST00000569086,;ZFPM1,splice_region_variant,,ENST00000562437,;ZFPM1,intron_variant,,ENST00000563351,;ZFPM1,non_coding_transcript_exon_variant,,ENST00000562417,;	589	48	48	SUCCESS
MVD	4597	.	GRCh37	16	88723903	88723903	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	7	156	0	ENST00000301012.3:c.344T>C	p.Val115Ala	p.V115A	ENST00000301012	NM_002461.1	115	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10968.1	344	MUTECT|MUSE	.	TGTTCACCGAT	NONE	.	.	hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR01240,Pfam_domain:PF00288,PIRSF_domain:PIRSF015950,Superfamily_domains:SSF54211	.	.	ENSP00000301012	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000301012	Transcript	.	.	ENSG00000167508	7529	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.087)	.	tolerated(0.5)	.	MVD1_HUMAN	MVD	HGNC	.	.	UPI000012A0C6	SNV	MVD,missense_variant,p.Val115Ala,ENST00000569177,;MVD,missense_variant,p.Val115Ala,ENST00000301012,;MVD,non_coding_transcript_exon_variant,,ENST00000565720,;MVD,non_coding_transcript_exon_variant,,ENST00000568709,;MVD,downstream_gene_variant,,ENST00000565842,;MVD,downstream_gene_variant,,ENST00000562741,;MVD,downstream_gene_variant,,ENST00000563463,;MVD,3_prime_UTR_variant,,ENST00000568133,;MVD,3_prime_UTR_variant,,ENST00000567064,;MVD,non_coding_transcript_exon_variant,,ENST00000563785,;MVD,non_coding_transcript_exon_variant,,ENST00000563170,;MVD,non_coding_transcript_exon_variant,,ENST00000566636,;MVD,non_coding_transcript_exon_variant,,ENST00000562651,;MVD,downstream_gene_variant,,ENST00000565610,;MVD,upstream_gene_variant,,ENST00000561895,;MVD,upstream_gene_variant,,ENST00000565149,;MVD,upstream_gene_variant,,ENST00000562981,;	374	156	160	SUCCESS
ANKRD11	29123	.	GRCh37	16	89349878	89349878	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	30	0	ENST00000301030.4:c.3072A>G	p.Lys1024=	p.K1024=	ENST00000301030	NM_001256183.1	1024	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS32513.1	3072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGTTTTGT	NONE	.	.	hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,synonymous_variant,p.%3D,ENST00000378330,;ANKRD11,synonymous_variant,p.%3D,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	3533	30	50	SUCCESS
MYH3	4621	.	GRCh37	17	10543714	10543714	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	37	0	ENST00000583535.1:c.2362C>A	p.Arg788=	p.R788=	ENST00000583535	NM_002470.3	788	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11157.1	2362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGGGTGA	NONE	.	.	PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Gene3D:1wdcA00,Superfamily_domains:SSF52540	.	.	ENSP00000464317	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000583535	Transcript	.	.	ENSG00000109063	7573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH3_HUMAN	MYH3	HGNC	.	.	UPI000013C892	SNV	MYH3,synonymous_variant,p.%3D,ENST00000583535,;MYH3,synonymous_variant,p.%3D,ENST00000226209,;	2450	37	50	SUCCESS
NT5M	56953	.	GRCh37	17	17206959	17206959	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	44	0	ENST00000389022.4:c.95G>T	p.Gly32Val	p.G32V	ENST00000389022	NM_020201.3	32	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32581.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGAGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16504,hmmpanther:PTHR16504:SF2	.	.	ENSP00000373674	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000389022	Transcript	.	.	ENSG00000205309	15769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.11)	.	NT5M_HUMAN	NT5M	HGNC	Q2I378_HUMAN	.	UPI0000073CAE	SNV	NT5M,missense_variant,p.Gly32Val,ENST00000389022,;NT5M,missense_variant,p.Gly32Val,ENST00000478373,;NT5M,missense_variant,p.Gly32Val,ENST00000470418,;NT5M,upstream_gene_variant,,ENST00000483704,;	311	44	49	SUCCESS
MAP2K3	5606	.	GRCh37	17	21203863	21203863	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	67	0	ENST00000342679.4:c.172G>T	p.Glu58Ter	p.E58*	ENST00000342679	NM_145109.2	58	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11217.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGAGGTG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,Superfamily_domains:SSF56112	.	.	ENSP00000345083	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000342679	Transcript	.	.	ENSG00000034152	6843	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP2K3_HUMAN	MAP2K3	HGNC	Q6FI23_HUMAN,E9PRZ0_HUMAN,D3DXI2_HUMAN	.	UPI000012F48C	SNV	MAP2K3,stop_gained,p.Glu29Ter,ENST00000526076,;MAP2K3,stop_gained,p.Glu29Ter,ENST00000316920,;MAP2K3,stop_gained,p.Glu29Ter,ENST00000361818,;MAP2K3,stop_gained,p.Glu58Ter,ENST00000342679,;MAP2K3,downstream_gene_variant,,ENST00000529517,;MAP2K3,stop_gained,p.Glu58Ter,ENST00000496046,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,;MAP2K3,3_prime_UTR_variant,,ENST00000479129,;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000483928,;	421	67	78	SUCCESS
TADA2A	6871	.	GRCh37	17	35804827	35804827	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	75	0	ENST00000394395.2:c.561G>A	p.Leu187=	p.L187=	ENST00000394395	NM_001166105.1	187	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11319.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGAGAGA	NONE	.	.	hmmpanther:PTHR12374:SF18,hmmpanther:PTHR12374,PIRSF_domain:PIRSF025024	.	.	ENSP00000377918	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000394395	Transcript	.	.	ENSG00000108264	11531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAD2A_HUMAN	TADA2A	HGNC	K7ER71_HUMAN,K7EME2_HUMAN,K7EKE3_HUMAN,B3KU13_HUMAN	.	UPI000013C868	SNV	TADA2A,synonymous_variant,p.%3D,ENST00000394395,;TADA2A,synonymous_variant,p.%3D,ENST00000586023,;TADA2A,synonymous_variant,p.%3D,ENST00000417170,;TADA2A,synonymous_variant,p.%3D,ENST00000590957,;TADA2A,synonymous_variant,p.%3D,ENST00000225396,;TADA2A,downstream_gene_variant,,ENST00000589153,;TADA2A,downstream_gene_variant,,ENST00000590005,;TADA2A,non_coding_transcript_exon_variant,,ENST00000591992,;TADA2A,synonymous_variant,p.%3D,ENST00000490992,;TADA2A,3_prime_UTR_variant,,ENST00000587420,;TADA2A,3_prime_UTR_variant,,ENST00000587593,;	734	75	99	SUCCESS
SMARCE1	6605	.	GRCh37	17	38787177	38787177	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	21	0	ENST00000348513.6:c.817-1G>C		p.X273_splice	ENST00000348513	NM_003079.4	273		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11370.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAACTAATC	NONE	.	.	.	.	.	ENSP00000323967	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348513	Transcript	.	.	ENSG00000073584	11109	.	.	HIGH	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMCE1_HUMAN	SMARCE1	HGNC	J3QR61_HUMAN,J3QKX6_HUMAN,J3KT85_HUMAN,C0IMW8_HUMAN,B4DGM3_HUMAN	.	UPI000006FB55	SNV	SMARCE1,splice_acceptor_variant,,ENST00000478349,;SMARCE1,splice_acceptor_variant,,ENST00000544009,;SMARCE1,splice_acceptor_variant,,ENST00000431889,;SMARCE1,splice_acceptor_variant,,ENST00000400122,;SMARCE1,splice_acceptor_variant,,ENST00000377808,;SMARCE1,splice_acceptor_variant,,ENST00000447024,;SMARCE1,splice_acceptor_variant,,ENST00000348513,;SMARCE1,splice_acceptor_variant,,ENST00000264640,;SMARCE1,splice_acceptor_variant,,ENST00000580419,;SMARCE1,splice_acceptor_variant,,ENST00000578044,;SMARCE1,splice_acceptor_variant,,ENST00000469334,;KRT222,splice_acceptor_variant,,ENST00000476049,;SMARCE1,splice_acceptor_variant,,ENST00000578112,;SMARCE1,downstream_gene_variant,,ENST00000493660,;	.	21	20	SUCCESS
HEXIM1	10614	.	GRCh37	17	43226702	43226702	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	49	184	0	ENST00000332499.2:c.145T>A	p.Ser49Thr	p.S49T	ENST00000332499	NM_006460.2	49	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS11495.1	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAATCGAGA	NONE	.	.	hmmpanther:PTHR13469,hmmpanther:PTHR13469:SF7	.	.	ENSP00000328773	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332499	Transcript	.	.	ENSG00000186834	24953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	deleterious_low_confidence(0.01)	.	HEXI1_HUMAN	HEXIM1	HGNC	.	.	UPI000006E405	SNV	HEXIM1,missense_variant,p.Ser49Thr,ENST00000332499,;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;	2019	184	178	SUCCESS
TEX14	56155	.	GRCh37	17	56688533	56688533	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs376459657	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	49	0	ENST00000240361.8:c.1191C>A	p.Tyr397Ter	p.Y397*	ENST00000240361		397	taC/taA	0	T:0	.	.	.	.	T	Y/*	protein_coding	YES	CCDS56042.1	1191	MUTECT|MUSE	.	AACATGTACTC	NONE	byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23060,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	T:0.0001	ENSP00000240361	.	10/33	.	.	.	.	.	.	.	.	rs376459657	10/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,stop_gained,p.Tyr391Ter,ENST00000349033,;TEX14,stop_gained,p.Tyr391Ter,ENST00000389934,;TEX14,stop_gained,p.Tyr397Ter,ENST00000240361,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	1277	49	46	SUCCESS
MED13	9969	.	GRCh37	17	60112898	60112898	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	38	0	ENST00000397786.2:c.542A>G	p.Asn181Ser	p.N181S	ENST00000397786	NM_005121.2	181	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS42366.1	542	MUTECT|MUSE	.	GTTGGTTAATT	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950,Pfam_domain:PF11597	.	.	ENSP00000380888	.	4/30	.	.	.	.	.	.	.	.	COSM3712409	4/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.024)	.	tolerated(0.37)	1	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Asn181Ser,ENST00000397786,;Y_RNA,upstream_gene_variant,,ENST00000363972,;MED13,upstream_gene_variant,,ENST00000580896,;MED13,upstream_gene_variant,,ENST00000578132,;MED13,upstream_gene_variant,,ENST00000581994,;	619	38	73	SUCCESS
TACO1	51204	.	GRCh37	17	61678596	61678596	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	71	0	ENST00000258975.6:c.154T>C	p.Phe52Leu	p.F52L	ENST00000258975	NM_016360.3	52	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11640.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACTTTACC	NONE	.	.	hmmpanther:PTHR12532,hmmpanther:PTHR12532:SF1	.	.	ENSP00000258975	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000258975	Transcript	.	.	ENSG00000136463	24316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TACO1_HUMAN	TACO1	HGNC	Q8N9Q7_HUMAN	.	UPI0000042223	SNV	TACO1,missense_variant,p.Phe52Leu,ENST00000258975,;TACO1,non_coding_transcript_exon_variant,,ENST00000581120,;	366	71	75	SUCCESS
ASGR1	432	.	GRCh37	17	7077382	7077382	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	73	0	ENST00000269299.3:c.599T>G	p.Phe200Cys	p.F200C	ENST00000269299	NM_001197216.2	200	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS11089.1	599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAAATTTC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF208,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000269299	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000269299	Transcript	.	.	ENSG00000141505	742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ASGR1_HUMAN	ASGR1	HGNC	Q6FGQ5_HUMAN,J3QSZ2_HUMAN,I3L2S9_HUMAN,I3L1F8_HUMAN,I3L129_HUMAN	.	UPI0000001604	SNV	ASGR1,missense_variant,p.Phe99Cys,ENST00000380920,;ASGR1,missense_variant,p.Phe161Cys,ENST00000574388,;ASGR1,missense_variant,p.Phe60Cys,ENST00000572879,;ASGR1,missense_variant,p.Phe200Cys,ENST00000269299,;ASGR1,missense_variant,p.Phe128Cys,ENST00000574330,;ASGR1,downstream_gene_variant,,ENST00000573083,;ASGR1,downstream_gene_variant,,ENST00000570576,;ASGR1,downstream_gene_variant,,ENST00000573596,;	999	73	81	SUCCESS
SLC2A4	6517	.	GRCh37	17	7187920	7187920	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770842692	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	72	0	ENST00000317370.8:c.844C>G	p.Arg282Gly	p.R282G	ENST00000317370	NM_001042.2	282	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS11097.1	844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCGTACC	NONE	byFrequency	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF14,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000320935	.	7/11	.	.	.	.	.	.	.	.	rs770842692,COSM1386049	7/11	PASS	ENST00000317370	Transcript	.	.	ENSG00000181856	11009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.138)	.	deleterious(0.01)	0,1	GTR4_HUMAN	SLC2A4	HGNC	.	.	UPI000004F0B3	SNV	SLC2A4,missense_variant,p.Arg282Gly,ENST00000317370,;SLC2A4,missense_variant,p.Arg272Gly,ENST00000424875,;SLC2A4,missense_variant,p.Arg282Gly,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000571464,;YBX2,downstream_gene_variant,,ENST00000007699,;RP1-4G17.2,upstream_gene_variant,,ENST00000576271,;SLC2A4,missense_variant,p.Arg282Gly,ENST00000572485,;SLC2A4,3_prime_UTR_variant,,ENST00000570783,;YBX2,downstream_gene_variant,,ENST00000571485,;YBX2,downstream_gene_variant,,ENST00000570720,;YBX2,downstream_gene_variant,,ENST00000571834,;	1112	72	79	SUCCESS
MRPS7	51081	.	GRCh37	17	73258604	73258604	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1337846183	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	52	0	ENST00000245539.6:c.110A>G	p.Tyr37Cys	p.Y37C	ENST00000245539	NM_015971.3	37	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11718.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCTATAGTC	NONE	.	.	Superfamily_domains:SSF47973,Gene3D:1.10.455.10,hmmpanther:PTHR11205:SF19,hmmpanther:PTHR11205	.	.	ENSP00000245539	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000245539	Transcript	.	.	ENSG00000125445	14499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RT07_HUMAN	MRPS7	HGNC	Q96Q63_HUMAN	.	UPI000013CBA7	SNV	MRPS7,missense_variant,p.Tyr66Cys,ENST00000579002,;MRPS7,missense_variant,p.Tyr37Cys,ENST00000245539,;MRPS7,missense_variant,p.Tyr37Cys,ENST00000579761,;GGA3,upstream_gene_variant,,ENST00000578348,;GGA3,upstream_gene_variant,,ENST00000582486,;GGA3,upstream_gene_variant,,ENST00000582717,;MIF4GD,downstream_gene_variant,,ENST00000245551,;MRPS7,upstream_gene_variant,,ENST00000584678,;MIF4GD,downstream_gene_variant,,ENST00000580571,;GGA3,upstream_gene_variant,,ENST00000537686,;MIF4GD,downstream_gene_variant,,ENST00000580717,;MIF4GD,downstream_gene_variant,,ENST00000325102,;MIF4GD,downstream_gene_variant,,ENST00000579119,;MIF4GD,downstream_gene_variant,,ENST00000578305,;GGA3,upstream_gene_variant,,ENST00000245541,;GGA3,upstream_gene_variant,,ENST00000580799,;MIF4GD,downstream_gene_variant,,ENST00000579612,;GGA3,upstream_gene_variant,,ENST00000351904,;MRPS7,upstream_gene_variant,,ENST00000581993,;GGA3,upstream_gene_variant,,ENST00000538886,;MIF4GD,downstream_gene_variant,,ENST00000579297,;MIF4GD,downstream_gene_variant,,ENST00000577542,;GGA3,upstream_gene_variant,,ENST00000579743,;MRPS7,synonymous_variant,p.%3D,ENST00000583407,;GGA3,upstream_gene_variant,,ENST00000582200,;GGA3,upstream_gene_variant,,ENST00000582376,;GGA3,upstream_gene_variant,,ENST00000582821,;MRPS7,upstream_gene_variant,,ENST00000577767,;GGA3,upstream_gene_variant,,ENST00000584978,;GGA3,upstream_gene_variant,,ENST00000537584,;GGA3,upstream_gene_variant,,ENST00000584243,;GGA3,upstream_gene_variant,,ENST00000577435,;	337	52	73	SUCCESS
TRIM65	201292	.	GRCh37	17	73892831	73892831	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	32	0	ENST00000269383.3:c.188A>C	p.Asn63Thr	p.N63T	ENST00000269383	NM_173547.3	63	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS11732.1	188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGTTGCGG	NONE	.	.	hmmpanther:PTHR24103:SF321,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000269383	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000269383	Transcript	.	.	ENSG00000141569	27316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	tolerated(0.06)	.	TRI65_HUMAN	TRIM65	HGNC	.	.	UPI000015FC8E	SNV	TRIM65,missense_variant,p.Asn63Thr,ENST00000269383,;TRIM65,missense_variant,p.Asn55Thr,ENST00000540128,;TRIM65,upstream_gene_variant,,ENST00000591668,;TRIM65,upstream_gene_variant,,ENST00000592642,;MRPL38,downstream_gene_variant,,ENST00000409963,;TRIM65,upstream_gene_variant,,ENST00000543309,;MRPL38,downstream_gene_variant,,ENST00000309352,;RP11-552F3.10,upstream_gene_variant,,ENST00000587267,;MRPL38,downstream_gene_variant,,ENST00000477023,;MRPL38,downstream_gene_variant,,ENST00000585475,;MRPL38,downstream_gene_variant,,ENST00000480203,;MRPL38,downstream_gene_variant,,ENST00000588620,;MRPL38,downstream_gene_variant,,ENST00000486101,;MRPL38,downstream_gene_variant,,ENST00000471434,;MRPL38,downstream_gene_variant,,ENST00000461602,;RP11-552F3.12,downstream_gene_variant,,ENST00000593156,;RP11-552F3.12,downstream_gene_variant,,ENST00000590947,;MRPL38,downstream_gene_variant,,ENST00000477371,;MRPL38,downstream_gene_variant,,ENST00000493383,;MRPL38,downstream_gene_variant,,ENST00000493104,;TRIM65,upstream_gene_variant,,ENST00000540812,;MRPL38,downstream_gene_variant,,ENST00000483393,;MRPL38,downstream_gene_variant,,ENST00000494179,;MRPL38,downstream_gene_variant,,ENST00000474548,;MRPL38,downstream_gene_variant,,ENST00000477736,;	254	32	52	SUCCESS
SHBG	6462	.	GRCh37	17	7533495	7533507	+	frameshift_variant	Frame_Shift_Del	DEL	AGAGCAGAGGCCC	AGAGCAGAGGCCC	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	AGAGCAGAGGCCC	AGAGCAGAGGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	22	0	ENST00000380450.4:c.6_18del	p.Glu2AspfsTer25	p.E2Dfs*25	ENST00000380450	NM_001040.3	2	gAGAGCAGAGGCCCa/ga	0	.	.	.	.	.	-	ESRGP/X	protein_coding	YES	CCDS11117.1	5-17	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATGGAGAGCAGAGGCCCACTGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000369816	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000380450	Transcript	.	.	ENSG00000129214	10839	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHBG_HUMAN	SHBG	HGNC	I3L1C1_HUMAN,I3L145_HUMAN,B0FWH2_HUMAN	.	UPI0000055933	deletion	SHBG,frameshift_variant,p.Glu2AspfsTer25,ENST00000416273,;SHBG,frameshift_variant,p.Glu2AspfsTer25,ENST00000441599,;SHBG,frameshift_variant,p.Glu2AspfsTer25,ENST00000380450,;SHBG,frameshift_variant,p.Glu2AspfsTer25,ENST00000575903,;SHBG,intron_variant,,ENST00000576478,;SHBG,intron_variant,,ENST00000575314,;SHBG,intron_variant,,ENST00000572262,;SHBG,intron_variant,,ENST00000570547,;SHBG,intron_variant,,ENST00000574539,;SHBG,intron_variant,,ENST00000340624,;SHBG,intron_variant,,ENST00000575729,;SHBG,intron_variant,,ENST00000572182,;SHBG,intron_variant,,ENST00000576728,;SAT2,upstream_gene_variant,,ENST00000269298,;SHBG,upstream_gene_variant,,ENST00000575618,;SHBG,upstream_gene_variant,,ENST00000576152,;SAT2,upstream_gene_variant,,ENST00000573566,;SHBG,upstream_gene_variant,,ENST00000571153,;SHBG,upstream_gene_variant,,ENST00000576830,;SAT2,upstream_gene_variant,,ENST00000570850,;SAT2,upstream_gene_variant,,ENST00000380466,;SAT2,upstream_gene_variant,,ENST00000576686,;SHBG,frameshift_variant,p.Glu2AspfsTer25,ENST00000570527,;SHBG,frameshift_variant,p.Glu2AspfsTer25,ENST00000570353,;SAT2,upstream_gene_variant,,ENST00000576579,;SAT2,upstream_gene_variant,,ENST00000576846,;SAT2,upstream_gene_variant,,ENST00000572224,;SAT2,upstream_gene_variant,,ENST00000575114,;SAT2,upstream_gene_variant,,ENST00000571195,;SAT2,upstream_gene_variant,,ENST00000571074,;SHBG,upstream_gene_variant,,ENST00000576747,;SAT2,upstream_gene_variant,,ENST00000575826,;SAT2,upstream_gene_variant,,ENST00000570914,;SAT2,upstream_gene_variant,,ENST00000573930,;	36-48	22	31	SUCCESS
ARHGEF15	22899	.	GRCh37	17	8224283	8224283	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	53	1	ENST00000361926.3:c.2498C>T	p.Ser833Leu	p.S833L	ENST00000361926	NM_173728.3	833	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS11139.1	2498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCAGGCA	NONE	.	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7	.	.	ENSP00000355026	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000361926	Transcript	.	.	ENSG00000198844	15590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	tolerated(0.05)	.	ARHGF_HUMAN	ARHGEF15	HGNC	J3QS60_HUMAN,J3KT46_HUMAN	.	UPI000013D2C0	SNV	ARHGEF15,missense_variant,p.Ser833Leu,ENST00000361926,;ARHGEF15,missense_variant,p.Ser833Leu,ENST00000421050,;AC135178.7,upstream_gene_variant,,ENST00000458568,;ARHGEF15,downstream_gene_variant,,ENST00000582060,;	2608	54	77	SUCCESS
MYH10	4628	.	GRCh37	17	8416885	8416885	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	17	0	ENST00000269243.4:c.2623C>A	p.Leu875Met	p.L875M	ENST00000269243	NM_005964.3	875	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS58515.1	2716	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCTCTC	NONE	.	.	Superfamily_domains:SSF90257,Gene3D:1.20.5.340,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000353590	.	23/43	.	.	.	.	.	.	.	.	.	23/43	PASS	ENST00000360416	Transcript	.	.	ENSG00000133026	7568	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	.	.	MYH10_HUMAN	MYH10	HGNC	Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN	.	UPI0000E24926	SNV	MYH10,missense_variant,p.Leu896Met,ENST00000396239,;MYH10,missense_variant,p.Leu875Met,ENST00000269243,;MYH10,missense_variant,p.Leu891Met,ENST00000379980,;MYH10,missense_variant,p.Leu906Met,ENST00000360416,;RNU7-43P,downstream_gene_variant,,ENST00000516554,;MYH10,upstream_gene_variant,,ENST00000465458,;	2855	17	39	SUCCESS
SPIRE1	56907	.	GRCh37	18	12535487	12535487	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	23	0	ENST00000409402.4:c.717G>T	p.Lys239Asn	p.K239N	ENST00000409402	NM_001128626.1	239	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS45829.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCTTAAT	NONE	.	.	hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000387266	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000409402	Transcript	.	.	ENSG00000134278	30622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	SPIR1_HUMAN	SPIRE1	HGNC	Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN	.	UPI00001C1FFE	SNV	SPIRE1,missense_variant,p.Lys239Asn,ENST00000409402,;SPIRE1,missense_variant,p.Lys239Asn,ENST00000410092,;SPIRE1,missense_variant,p.Lys119Asn,ENST00000449797,;SPIRE1,missense_variant,p.Lys80Asn,ENST00000383356,;SPIRE1,missense_variant,p.Lys137Asn,ENST00000497844,;SPIRE1,missense_variant,p.Lys119Asn,ENST00000462226,;SPIRE1,missense_variant,p.Lys42Asn,ENST00000309836,;SPIRE1,missense_variant,p.Lys119Asn,ENST00000453447,;snoU13,upstream_gene_variant,,ENST00000459256,;SPIRE1,missense_variant,p.Lys80Asn,ENST00000440472,;	985	23	58	SUCCESS
GREB1L	80000	.	GRCh37	18	19098141	19098141	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	81	0	ENST00000424526.1:c.5418T>C	p.His1806=	p.H1806=	ENST00000424526	NM_001142966.1	1806	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS45836.1	5418	MUTECT|MUSE	.	ATCCATAACTT	NONE	.	.	hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720	.	.	ENSP00000464162	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000580732	Transcript	.	.	ENSG00000141449	31042	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRB1L_HUMAN	GREB1L	HGNC	.	.	UPI0001642876	SNV	GREB1L,missense_variant,p.Ile155Thr,ENST00000580384,;GREB1L,synonymous_variant,p.%3D,ENST00000269218,;GREB1L,synonymous_variant,p.%3D,ENST00000424526,;GREB1L,synonymous_variant,p.%3D,ENST00000580732,;GREB1L,3_prime_UTR_variant,,ENST00000400483,;	5799	81	93	SUCCESS
MIB1	57534	.	GRCh37	18	19437092	19437092	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	47	0	ENST00000261537.6:c.2667C>T		p.X889_splice	ENST00000261537	NM_020774.3	889	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS11871.1	2667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACTGTGC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,Pfam_domain:PF13920,SMART_domains:SM00184	.	.	ENSP00000261537	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000261537	Transcript	.	.	ENSG00000101752	21086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIB1_HUMAN	MIB1	HGNC	B3KRA8_HUMAN	.	UPI000000D833	SNV	MIB1,synonymous_variant,p.%3D,ENST00000261537,;MIB1,splice_region_variant,,ENST00000578646,;RP11-268I9.1,upstream_gene_variant,,ENST00000473394,;	2931	47	62	SUCCESS
MALT1	10892	.	GRCh37	18	56348515	56348515	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	74	0	ENST00000348428.3:c.323A>G	p.Asp108Gly	p.D108G	ENST00000348428	NM_006785.3	108	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11967.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGATTTCC	NONE	.	.	Superfamily_domains:SSF47986,Gene3D:1.10.533.10,hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF20	.	.	ENSP00000319279	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000348428	Transcript	.	.	ENSG00000172175	6819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	tolerated(0.3)	.	MALT1_HUMAN	MALT1	HGNC	K7EP42_HUMAN	.	UPI000004D05E	SNV	MALT1,missense_variant,p.Asp108Gly,ENST00000345724,;MALT1,missense_variant,p.Asp108Gly,ENST00000348428,;MALT1,missense_variant,p.Asp13Gly,ENST00000591792,;RP11-126O1.4,intron_variant,,ENST00000588835,;RP11-126O1.4,upstream_gene_variant,,ENST00000587080,;	581	74	97	SUCCESS
KEAP1	9817	.	GRCh37	19	10610240	10610240	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	88	0	ENST00000171111.5:c.470A>G	p.Asn157Ser	p.N157S	ENST00000171111	NM_203500.1	157	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS12239.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGTTCATG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.45)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Asn157Ser,ENST00000591419,;KEAP1,missense_variant,p.Asn157Ser,ENST00000591039,;KEAP1,missense_variant,p.Asn157Ser,ENST00000393623,;KEAP1,missense_variant,p.Asn157Ser,ENST00000171111,;KEAP1,missense_variant,p.Asn157Ser,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,synonymous_variant,p.%3D,ENST00000585845,;	1018	88	76	SUCCESS
GADD45GIP1	90480	.	GRCh37	19	13065097	13065097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	89	0	ENST00000316939.1:c.594G>T	p.Lys198Asn	p.K198N	ENST00000316939	NM_052850.3	198	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS12290.1	594	MUTECT|MUSE	.	TCCTTCTTCCG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31761:SF1,hmmpanther:PTHR31761,Pfam_domain:PF10147	.	.	ENSP00000323065	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000316939	Transcript	.	.	ENSG00000179271	29996	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0.01)	.	G45IP_HUMAN	GADD45GIP1	HGNC	Q7LAX7_HUMAN	.	UPI000006E725	SNV	GADD45GIP1,missense_variant,p.Lys198Asn,ENST00000316939,;RAD23A,downstream_gene_variant,,ENST00000541222,;RAD23A,downstream_gene_variant,,ENST00000316856,;RAD23A,downstream_gene_variant,,ENST00000592268,;RAD23A,downstream_gene_variant,,ENST00000586534,;RAD23A,downstream_gene_variant,,ENST00000590881,;AC092069.1,upstream_gene_variant,,ENST00000410560,;RAD23A,downstream_gene_variant,,ENST00000588826,;RAD23A,downstream_gene_variant,,ENST00000593114,;RAD23A,downstream_gene_variant,,ENST00000591467,;RAD23A,downstream_gene_variant,,ENST00000591499,;RAD23A,downstream_gene_variant,,ENST00000586375,;	618	89	98	SUCCESS
PALM3	342979	.	GRCh37	19	14167514	14167514	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1387258815	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	54	0	ENST00000340790.4:c.229G>T	p.Ala77Ser	p.A77S	ENST00000340790	NM_001145028.1	77	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46001.1	229	MUTECT|MUSE	.	CTGAGCCTGGC	NONE	.	.	hmmpanther:PTHR10498:SF6,hmmpanther:PTHR10498	.	.	ENSP00000344996	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000340790	Transcript	.	.	ENSG00000187867	33274	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	tolerated(0.06)	.	PALM3_HUMAN	PALM3	HGNC	K7EKN5_HUMAN	.	UPI0001662AC1	SNV	PALM3,missense_variant,p.Ala77Ser,ENST00000340790,;PALM3,missense_variant,p.Ala26Ser,ENST00000589048,;IL27RA,downstream_gene_variant,,ENST00000263379,;PALM3,non_coding_transcript_exon_variant,,ENST00000586368,;	229	54	66	SUCCESS
SAMD1	90378	.	GRCh37	19	14199567	14199567	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	71	0	ENST00000533683.2:c.1056T>G	p.Asp352Glu	p.D352E	ENST00000533683	NM_138352.1	352	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	.	1056	MUTECT|MUSE	.	ACGGGATCAGA	NONE	.	.	hmmpanther:PTHR12247,Gene3D:1.10.150.50,Superfamily_domains:SSF47769	.	.	ENSP00000431971	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000533683	Transcript	.	.	ENSG00000141858	17958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.297)	.	deleterious(0.01)	.	.	SAMD1	HGNC	F8WDT5_HUMAN,E9PIW9_HUMAN	.	UPI0000366D4A	SNV	SAMD1,missense_variant,p.Asp352Glu,ENST00000533683,;SAMD1,missense_variant,p.Asp52Glu,ENST00000269724,;C19orf67,upstream_gene_variant,,ENST00000548523,;PRKACA,downstream_gene_variant,,ENST00000590853,;C19orf67,upstream_gene_variant,,ENST00000343945,;PRKACA,downstream_gene_variant,,ENST00000589994,;PRKACA,downstream_gene_variant,,ENST00000308677,;PRKACA,downstream_gene_variant,,ENST00000587372,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;PRKACA,downstream_gene_variant,,ENST00000588209,;	1344	71	92	SUCCESS
CILP2	148113	.	GRCh37	19	19655014	19655014	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	58	0	ENST00000291495.5:c.1660A>T	p.Met554Leu	p.M554L	ENST00000291495	NM_153221.2	554	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS12405.1	1660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCATGCGG	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Met554Leu,ENST00000291495,;CILP2,missense_variant,p.Met560Leu,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1745	58	48	SUCCESS
ZNF506	440515	.	GRCh37	19	19932469	19932469	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	38	0	ENST00000443905.2:c.-57C>G		p.*19*	ENST00000443905				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42531.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGTCACA	NONE	.	.	.	.	.	ENSP00000393835	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000443905	Transcript	.	.	ENSG00000081665	23780	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN506_HUMAN	ZNF506	HGNC	K7ERD0_HUMAN	.	UPI00001B6472	SNV	ZNF506,5_prime_UTR_variant,,ENST00000450683,;ZNF506,5_prime_UTR_variant,,ENST00000590319,;ZNF506,5_prime_UTR_variant,,ENST00000443905,;ZNF506,5_prime_UTR_variant,,ENST00000590766,;ZNF506,5_prime_UTR_variant,,ENST00000587461,;ZNF506,5_prime_UTR_variant,,ENST00000587452,;ZNF506,5_prime_UTR_variant,,ENST00000540806,;ZNF506,5_prime_UTR_variant,,ENST00000545006,;CTC-559E9.4,non_coding_transcript_exon_variant,,ENST00000590274,;CTC-559E9.6,intron_variant,,ENST00000591884,;ZNF506,non_coding_transcript_exon_variant,,ENST00000595825,;ZNF506,5_prime_UTR_variant,,ENST00000591639,;ZNF506,5_prime_UTR_variant,,ENST00000586260,;	92	38	35	SUCCESS
LSR	51599	.	GRCh37	19	35758146	35758146	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1178329031	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	73	0	ENST00000361790.3:c.1423C>A	p.Pro475Thr	p.P475T	ENST00000361790	NM_205834.3	475	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS12450.1	1423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCCCGCC	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF1	.	.	ENSP00000354575	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000361790	Transcript	.	.	ENSG00000105699	29572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.08)	.	LSR_HUMAN	LSR	HGNC	.	.	UPI000003117A	SNV	LSR,missense_variant,p.Pro417Thr,ENST00000347609,;LSR,missense_variant,p.Pro475Thr,ENST00000361790,;LSR,missense_variant,p.Pro326Thr,ENST00000605618,;LSR,missense_variant,p.Pro456Thr,ENST00000354900,;LSR,missense_variant,p.Pro319Thr,ENST00000427250,;LSR,missense_variant,p.Pro407Thr,ENST00000360798,;LSR,missense_variant,p.Pro455Thr,ENST00000602122,;USF2,upstream_gene_variant,,ENST00000222305,;USF2,upstream_gene_variant,,ENST00000379134,;USF2,upstream_gene_variant,,ENST00000343550,;USF2,upstream_gene_variant,,ENST00000596380,;LSR,downstream_gene_variant,,ENST00000599658,;USF2,upstream_gene_variant,,ENST00000595068,;USF2,upstream_gene_variant,,ENST00000594064,;USF2,upstream_gene_variant,,ENST00000599471,;USF2,upstream_gene_variant,,ENST00000599625,;USF2,upstream_gene_variant,,ENST00000598058,;AD000684.2,downstream_gene_variant,,ENST00000602262,;LSR,downstream_gene_variant,,ENST00000602044,;USF2,upstream_gene_variant,,ENST00000600341,;LSR,downstream_gene_variant,,ENST00000597933,;LSR,non_coding_transcript_exon_variant,,ENST00000597446,;USF2,upstream_gene_variant,,ENST00000607959,;USF2,upstream_gene_variant,,ENST00000602164,;USF2,upstream_gene_variant,,ENST00000597671,;USF2,upstream_gene_variant,,ENST00000593708,;	1582	73	79	SUCCESS
COX6B1	1340	.	GRCh37	19	36142180	36142180	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1309733580	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	55	0	ENST00000246554.3:c.35A>G	p.Tyr12Cys	p.Y12C	ENST00000246554	NM_001863.4	12	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12469.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTACAAGA	NONE	.	.	hmmpanther:PTHR11387:SF13,hmmpanther:PTHR11387,Gene3D:1v54H00,PIRSF_domain:PIRSF000278,Superfamily_domains:0045397	.	.	ENSP00000246554	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000246554	Transcript	1	.	ENSG00000126267	2280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.02)	.	CX6B1_HUMAN	COX6B1	HGNC	.	.	UPI00000527BE	SNV	COX6B1,missense_variant,p.Tyr12Cys,ENST00000392201,;COX6B1,missense_variant,p.Tyr12Cys,ENST00000246554,;COX6B1,missense_variant,p.Tyr12Cys,ENST00000590618,;COX6B1,missense_variant,p.Tyr12Cys,ENST00000592141,;	227	55	86	SUCCESS
ZNF573	126231	.	GRCh37	19	38229948	38229948	+	synonymous_variant	Silent	SNP	A	A	G	rs1417989682	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	22	67	0	ENST00000536220.1:c.1179T>C	p.Thr393=	p.T393=	ENST00000536220	NM_001172689.1	393	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS59381.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGTACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF159,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000465020	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000590414	Transcript	.	.	ENSG00000189144	26420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF573	HGNC	K7EJ45_HUMAN	.	UPI000059D70C	SNV	ZNF573,synonymous_variant,p.%3D,ENST00000357309,;ZNF573,synonymous_variant,p.%3D,ENST00000392138,;ZNF573,synonymous_variant,p.%3D,ENST00000339503,;ZNF573,synonymous_variant,p.%3D,ENST00000590414,;ZNF573,synonymous_variant,p.%3D,ENST00000536220,;ZNF573,downstream_gene_variant,,ENST00000585724,;ZNF573,downstream_gene_variant,,ENST00000378445,;ZNF573,intron_variant,,ENST00000590674,;ZNF573,3_prime_UTR_variant,,ENST00000589632,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,downstream_gene_variant,,ENST00000591516,;ZNF573,downstream_gene_variant,,ENST00000489148,;	1465	67	129	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38621330	38621330	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150829300	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	42	0	ENST00000222345.6:c.3061G>A	p.Asp1021Asn	p.D1021N	ENST00000222345	NM_015073.1	1021	Gac/Aac	0	A:0.0002	A:0	.	A:0	.	A	D/N	protein_coding	YES	CCDS33007.1	3061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGACCAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50106,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	A:0	A:0.0001	ENSP00000222345	A:0.004	10/22	.	.	.	.	.	.	.	.	rs150829300	10/22	PASS	ENST00000222345	Transcript	.	A:0.0008	ENSG00000105738	23801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	A:0	deleterious(0)	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,missense_variant,p.Asp82Asn,ENST00000600919,;SIPA1L3,missense_variant,p.Asp1021Asn,ENST00000222345,;SIPA1L3,non_coding_transcript_exon_variant,,ENST00000601881,;	3570	42	73	SUCCESS
SPTBN4	57731	.	GRCh37	19	40993612	40993612	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	44	0	ENST00000352632.3:c.178G>A	p.Glu60Lys	p.E60K	ENST00000352632		60	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12559.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGGAAGCC	NONE	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.10.418.10,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF47576	.	.	ENSP00000263373	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	deleterious(0)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Glu60Lys,ENST00000338932,;SPTBN4,missense_variant,p.Glu60Lys,ENST00000352632,;SPTBN4,missense_variant,p.Glu60Lys,ENST00000598249,;SPTBN4,missense_variant,p.Glu60Lys,ENST00000595535,;SPTBN4,missense_variant,p.Glu60Lys,ENST00000344104,;	264	44	54	SUCCESS
CEACAM3	1084	.	GRCh37	19	42301605	42301605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	47	93	0	ENST00000357396.3:c.149A>T	p.Glu50Val	p.E50V	ENST00000357396	NM_001815.3	50	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12586.2	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGGTGC	NONE	.	.	hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	.	.	ENSP00000349971	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,missense_variant,p.Glu50Val,ENST00000357396,;CEACAM3,missense_variant,p.Glu50Val,ENST00000344550,;CEACAM3,missense_variant,p.Glu50Val,ENST00000221999,;CEACAM3,missense_variant,p.Glu10Val,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,missense_variant,p.Glu50Val,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;	390	93	180	SUCCESS
SMG9	56006	.	GRCh37	19	44249035	44249035	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	24	66	0	ENST00000270066.6:c.590A>G	p.Tyr197Cys	p.Y197C	ENST00000270066	NM_019108.2	197	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33043.2	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTACTGT	NONE	.	.	Gene3D:3.40.50.300,hmmpanther:PTHR14270,hmmpanther:PTHR14270:SF0	.	.	ENSP00000270066	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000270066	Transcript	.	.	ENSG00000105771	25763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0.02)	.	SMG9_HUMAN	SMG9	HGNC	M0R2N0_HUMAN,M0QZH1_HUMAN,M0QZC7_HUMAN,M0QYR7_HUMAN,M0QX70_HUMAN	.	UPI0000037B1C	SNV	SMG9,missense_variant,p.Tyr197Cys,ENST00000601170,;SMG9,missense_variant,p.Tyr197Cys,ENST00000270066,;SMG9,downstream_gene_variant,,ENST00000596714,;SMG9,downstream_gene_variant,,ENST00000597586,;SMG9,downstream_gene_variant,,ENST00000602222,;SMG9,downstream_gene_variant,,ENST00000601925,;SMG9,downstream_gene_variant,,ENST00000599804,;SMG9,missense_variant,p.Tyr68Cys,ENST00000597598,;SMG9,splice_region_variant,,ENST00000595700,;SMG9,downstream_gene_variant,,ENST00000598886,;	933	66	114	SUCCESS
ERCC2	2068	.	GRCh37	19	45860629	45860629	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	82	0	ENST00000391945.4:c.1378A>G	p.Thr460Ala	p.T460A	ENST00000391945	NM_000400.3	460	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33049.1	1378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGTCTGTG	NONE	.	.	hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604,Superfamily_domains:SSF52540	.	.	ENSP00000375809	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000391945	Transcript	1	.	ENSG00000104884	3434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.76)	.	deleterious(0)	.	ERCC2_HUMAN	ERCC2	HGNC	K7EIT8_HUMAN,A8MX75_HUMAN	.	UPI0000139012	SNV	ERCC2,missense_variant,p.Thr436Ala,ENST00000391941,;ERCC2,missense_variant,p.Thr382Ala,ENST00000391944,;ERCC2,missense_variant,p.Thr460Ala,ENST00000391945,;ERCC2,downstream_gene_variant,,ENST00000485403,;ERCC2,downstream_gene_variant,,ENST00000391940,;ERCC2,missense_variant,p.Thr168Ala,ENST00000587376,;ERCC2,splice_region_variant,,ENST00000588652,;ERCC2,splice_region_variant,,ENST00000391942,;	1456	82	137	SUCCESS
TMEM143	55260	.	GRCh37	19	48866554	48866554	+	synonymous_variant	Silent	SNP	T	T	G	rs764325991	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	51	0	ENST00000293261.3:c.258A>C	p.Leu86=	p.L86=	ENST00000293261	NM_018273.2	86	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS12716.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATTAGGAG	NONE	byFrequency	.	hmmpanther:PTHR16095:SF10,hmmpanther:PTHR16095	.	.	ENSP00000293261	.	2/8	.	.	.	.	.	.	.	.	rs764325991	2/8	PASS	ENST00000293261	Transcript	.	.	ENSG00000161558	25603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM143_HUMAN	TMEM143	HGNC	M0QZ02_HUMAN	.	UPI0000070A27	SNV	TMEM143,synonymous_variant,p.%3D,ENST00000598926,;TMEM143,synonymous_variant,p.%3D,ENST00000293261,;TMEM143,synonymous_variant,p.%3D,ENST00000601522,;TMEM143,synonymous_variant,p.%3D,ENST00000436660,;TMEM143,synonymous_variant,p.%3D,ENST00000377431,;TMEM143,synonymous_variant,p.%3D,ENST00000435956,;TMEM143,intron_variant,,ENST00000541566,;SYNGR4,upstream_gene_variant,,ENST00000344846,;TMEM143,non_coding_transcript_exon_variant,,ENST00000598012,;TMEM143,intron_variant,,ENST00000598258,;TMEM143,synonymous_variant,p.%3D,ENST00000597370,;TMEM143,synonymous_variant,p.%3D,ENST00000599220,;TMEM143,non_coding_transcript_exon_variant,,ENST00000601332,;TMEM143,non_coding_transcript_exon_variant,,ENST00000593914,;TMEM143,non_coding_transcript_exon_variant,,ENST00000595720,;	575	51	115	SUCCESS
PRR12	57479	.	GRCh37	19	50102580	50102580	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	44	0	ENST00000418929.2:c.3730G>C	p.Asp1244His	p.D1244H	ENST00000418929	NM_020719.1	1244	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS46143.1	3730	MUTECT|MUSE	.	CGGGTGATGCC	NONE	.	.	hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	.	.	ENSP00000394510	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.934)	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,missense_variant,p.Asp1244His,ENST00000418929,;	3742	44	69	SUCCESS
ZNF615	284370	.	GRCh37	19	52496613	52496613	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	44	0	ENST00000376716.5:c.1716A>G	p.Glu572=	p.E572=	ENST00000376716	NM_198480.3	572	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS59418.1	1749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATTCACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF167,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471549	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000594083	Transcript	.	.	ENSG00000197619	24740	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN615_HUMAN	ZNF615	HGNC	.	.	UPI000022A99B	SNV	ZNF615,synonymous_variant,p.%3D,ENST00000391795,;ZNF615,synonymous_variant,p.%3D,ENST00000376716,;ZNF615,synonymous_variant,p.%3D,ENST00000602063,;ZNF615,synonymous_variant,p.%3D,ENST00000594083,;ZNF615,synonymous_variant,p.%3D,ENST00000598071,;ZNF615,downstream_gene_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000601178,;ZNF615,3_prime_UTR_variant,,ENST00000599177,;ZNF615,downstream_gene_variant,,ENST00000599115,;	1994	44	72	SUCCESS
ZNF841	284371	.	GRCh37	19	52569369	52569369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	30	79	0	ENST00000426391.2:c.1418G>T	p.Arg473Ile	p.R473I	ENST00000426391		473	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS46161.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTCTTTGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.07)	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,missense_variant,p.Arg589Ile,ENST00000389534,;ZNF841,missense_variant,p.Arg473Ile,ENST00000426391,;ZNF841,missense_variant,p.Arg589Ile,ENST00000594295,;ZNF841,intron_variant,,ENST00000601738,;ZNF841,intron_variant,,ENST00000359973,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	2226	79	149	SUCCESS
ZNF766	90321	.	GRCh37	19	52793977	52793977	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	32	80	0	ENST00000439461.1:c.933T>C	p.Ser311=	p.S311=	ENST00000439461	NM_001010851.2	311	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS46163.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTTCATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF5,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000409652	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000439461	Transcript	.	.	ENSG00000196214	28063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN766_HUMAN	ZNF766	HGNC	M0R1P9_HUMAN,M0R139_HUMAN,M0QXI4_HUMAN	.	UPI0000202AF7	SNV	ZNF766,synonymous_variant,p.%3D,ENST00000359102,;ZNF766,synonymous_variant,p.%3D,ENST00000593612,;ZNF766,synonymous_variant,p.%3D,ENST00000439461,;ZNF766,3_prime_UTR_variant,,ENST00000599581,;ZNF766,downstream_gene_variant,,ENST00000593703,;ZNF766,downstream_gene_variant,,ENST00000600821,;ZNF766,downstream_gene_variant,,ENST00000595149,;ZNF766,downstream_gene_variant,,ENST00000595000,;CTD-2525I3.5,intron_variant,,ENST00000594865,;	976	80	159	SUCCESS
ZNF528	84436	.	GRCh37	19	52919622	52919622	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	42	65	0	ENST00000360465.3:c.1517C>A	p.Ser506Ter	p.S506*	ENST00000360465	NM_032423.2	506	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS33091.1	1517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTCAAACC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF143,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000353652	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360465	Transcript	.	.	ENSG00000167555	29384	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN528_HUMAN	ZNF528	HGNC	C9K0H2_HUMAN	.	UPI00001B6535	SNV	ZNF528,stop_gained,p.Ser506Ter,ENST00000360465,;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,downstream_gene_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,downstream_gene_variant,,ENST00000479718,;	1943	65	148	SUCCESS
ZNF415	55786	.	GRCh37	19	53613070	53613070	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	29	64	0	ENST00000500065.4:c.228T>A	p.His76Gln	p.H76Q	ENST00000500065	NM_001136038.2	76	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS54313.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCATGTTG	NONE	.	.	hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_profiles:PS50805	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.15)	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,missense_variant,p.His63Gln,ENST00000440291,;ZNF415,missense_variant,p.His124Gln,ENST00000455735,;ZNF415,missense_variant,p.His124Gln,ENST00000448501,;ZNF415,missense_variant,p.His76Gln,ENST00000601110,;ZNF415,missense_variant,p.His76Gln,ENST00000500065,;ZNF415,missense_variant,p.His76Gln,ENST00000243643,;ZNF415,missense_variant,p.His88Gln,ENST00000421033,;ZNF415,missense_variant,p.His122Gln,ENST00000595174,;ZNF415,3_prime_UTR_variant,,ENST00000595813,;ZNF415,3_prime_UTR_variant,,ENST00000601215,;ZNF415,5_prime_UTR_variant,,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,non_coding_transcript_exon_variant,,ENST00000595359,;ZNF415,non_coding_transcript_exon_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	562	64	117	SUCCESS
ZNF347	84671	.	GRCh37	19	53643694	53643694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	40	71	0	ENST00000334197.7:c.2387G>T	p.Gly796Val	p.G796V	ENST00000334197	NM_032584.2	796	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS54314.1	2390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCCCACAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000405218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,missense_variant,p.Gly797Val,ENST00000601469,;ZNF347,missense_variant,p.Gly796Val,ENST00000334197,;ZNF347,missense_variant,p.Gly797Val,ENST00000452676,;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000597183,;ZNF347,downstream_gene_variant,,ENST00000595967,;	2817	71	177	SUCCESS
ZNF761	388561	.	GRCh37	19	53959293	53959293	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	7	73	0	ENST00000454407.1:n.1985G>A		p.*662*	ENST00000454407				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CACATGCCATC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000454407	Transcript	.	.	ENSG00000160336	23179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF761	HGNC	.	.	.	SNV	ZNF761,non_coding_transcript_exon_variant,,ENST00000429310,;ZNF761,non_coding_transcript_exon_variant,,ENST00000454407,;ZNF761,non_coding_transcript_exon_variant,,ENST00000334095,;ZNF761,non_coding_transcript_exon_variant,,ENST00000432094,;	1985	73	137	SUCCESS
MBOAT7	79143	.	GRCh37	19	54677808	54677808	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	16	73	0	ENST00000245615.1:c.1349del	p.Gly450AlafsTer39	p.G450Afs*39	ENST00000245615	NM_024298.3	450	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS12883.1	1349	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCTGCCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13906:SF8,hmmpanther:PTHR13906	.	.	ENSP00000245615	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000245615	Transcript	.	.	ENSG00000125505	15505	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MBOA7_HUMAN	MBOAT7	HGNC	C9J4E9_HUMAN,A9C4B8_HUMAN	.	UPI000013CBAC	deletion	MBOAT7,frameshift_variant,p.Gly377AlafsTer39,ENST00000431666,;MBOAT7,frameshift_variant,p.Gly377AlafsTer39,ENST00000338624,;MBOAT7,frameshift_variant,p.Gly450AlafsTer39,ENST00000245615,;MBOAT7,3_prime_UTR_variant,,ENST00000449249,;TMC4,upstream_gene_variant,,ENST00000376591,;MBOAT7,downstream_gene_variant,,ENST00000391754,;TMC4,upstream_gene_variant,,ENST00000446291,;TMC4,upstream_gene_variant,,ENST00000301187,;TMC4,upstream_gene_variant,,ENST00000479750,;TMC4,upstream_gene_variant,,ENST00000476013,;MBOAT7,3_prime_UTR_variant,,ENST00000437868,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000494142,;	1830	73	143	SUCCESS
BRSK1	84446	.	GRCh37	19	55798667	55798667	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	37	0	ENST00000309383.1:c.317T>A	p.Leu106Ter	p.L106*	ENST00000309383	NM_032430.1	106	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS12921.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTTGTAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000310649	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,stop_gained,p.Leu106Ter,ENST00000585418,;BRSK1,stop_gained,p.Leu106Ter,ENST00000309383,;BRSK1,stop_gained,p.Leu122Ter,ENST00000590333,;BRSK1,stop_gained,p.Leu63Ter,ENST00000592539,;	594	37	86	SUCCESS
NLRP4	147945	.	GRCh37	19	56390306	56390306	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	83	0	ENST00000301295.6:c.2843C>T	p.Pro948Leu	p.P948L	ENST00000301295	NM_134444.4	948	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12936.1	2843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCCAGAGT	NONE	.	.	hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000301295	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000301295	Transcript	.	.	ENSG00000160505	22943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	deleterious(0.02)	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,missense_variant,p.Pro458Leu,ENST00000589437,;NLRP4,missense_variant,p.Pro948Leu,ENST00000301295,;NLRP4,missense_variant,p.Pro892Leu,ENST00000346986,;NLRP4,missense_variant,p.Pro873Leu,ENST00000587891,;	3265	83	112	SUCCESS
NLRP13	126204	.	GRCh37	19	56443582	56443582	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756876652	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	36	75	0	ENST00000342929.3:c.96C>A	p.Phe32Leu	p.F32L	ENST00000342929	NM_176810.2	32	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS33119.1	96	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGAATTC	NONE	byFrequency	.	PROSITE_profiles:PS50824,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,Gene3D:1.10.533.10,Pfam_domain:PF02758,Superfamily_domains:SSF47986	.	.	ENSP00000343891	.	1/11	.	.	.	.	.	.	.	.	rs756876652	1/11	PASS	ENST00000342929	Transcript	.	.	ENSG00000173572	22937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.06)	.	NAL13_HUMAN	NLRP13	HGNC	.	.	UPI00001AEEC8	SNV	NLRP13,missense_variant,p.Phe32Leu,ENST00000588751,;NLRP13,missense_variant,p.Phe32Leu,ENST00000342929,;	96	75	138	SUCCESS
ZNF583	147949	.	GRCh37	19	56935118	56935153	+	inframe_deletion	In_Frame_Del	DEL	GTGGATACCTAATTGTACATCAGAGAATTCATACTG	GTGGATACCTAATTGTACATCAGAGAATTCATACTG	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	GTGGATACCTAATTGTACATCAGAGAATTCATACTG	GTGGATACCTAATTGTACATCAGAGAATTCATACTG	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	51	0	ENST00000291598.7:c.1092_1127del	p.Gly365_Gly376del	p.G365_G376del	ENST00000291598	NM_001159860.1	364	cGTGGATACCTAATTGTACATCAGAGAATTCATACTGga/cga	0	.	.	.	.	.	-	RGYLIVHQRIHTG/R	protein_coding	YES	CCDS12943.1	1091-1126	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCATCGTGGATACCTAATTGTACATCAGAGAATTCATACTGGAGAG	CODON|p.R372I|c.1115G>T|3	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24387:SF211,hmmpanther:PTHR24387,PROSITE_profiles:PS50157	.	.	ENSP00000388502	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000333201	Transcript	.	.	ENSG00000198440	26427	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN583_HUMAN	ZNF583	HGNC	I3L0C4_HUMAN,F5GZQ5_HUMAN	.	UPI000013E700	deletion	ZNF583,inframe_deletion,p.Gly365_Gly376del,ENST00000333201,;ZNF583,inframe_deletion,p.Gly365_Gly376del,ENST00000291598,;ZNF583,downstream_gene_variant,,ENST00000391778,;ZNF583,downstream_gene_variant,,ENST00000537943,;ZNF583,non_coding_transcript_exon_variant,,ENST00000585612,;	1301-1336	51	121	SUCCESS
NRTN	4902	.	GRCh37	19	5824084	5824084	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	14	0	ENST00000303212.2:c.-93C>T		p.*31*	ENST00000303212	NM_004558.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12151.1	.	MUTECT|MUSE	.	GGCCCCACACT	NONE	.	.	.	.	.	ENSP00000302648	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000303212	Transcript	1	.	ENSG00000171119	8007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRTN_HUMAN	NRTN	HGNC	.	.	UPI0000050F8C	SNV	NRTN,5_prime_UTR_variant,,ENST00000303212,;AC011499.1,downstream_gene_variant,,ENST00000579264,;	272	14	16	SUCCESS
ZNF329	79673	.	GRCh37	19	58639453	58639453	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs201280634	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	26	46	0	ENST00000358067.4:c.1418A>T	p.His473Leu	p.H473L	ENST00000358067		473	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS12972.1	1418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTGCTTG	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF118,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000470008	.	4/4	.	.	.	.	.	.	.	.	rs201280634	4/4	PASS	ENST00000598312	Transcript	.	.	ENSG00000181894	14209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN329_HUMAN	ZNF329	HGNC	M0R136_HUMAN	.	UPI0000246E79	SNV	ZNF329,missense_variant,p.His473Leu,ENST00000598312,;ZNF329,missense_variant,p.His473Leu,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,missense_variant,p.His473Leu,ENST00000500161,;ZNF329,missense_variant,p.His473Leu,ENST00000597186,;	1652	46	121	SUCCESS
MUC16	94025	.	GRCh37	19	9049646	9049646	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	71	0	ENST00000397910.4:c.31985A>T	p.Asp10662Val	p.D10662V	ENST00000397910	NM_024690.2	10662	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS54212.1	31985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTATCTGTC	BUFFER|p.S6292L|c.18875C>T|4,BUFFER|p.S10659L|c.31976C>T|4	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Asp10662Val,ENST00000397910,;	32189	71	100	SUCCESS
CSF1	1435	.	GRCh37	1	110464543	110464543	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	62	187	0	ENST00000329608.6:c.471G>T	p.Lys157Asn	p.K157N	ENST00000329608	NM_000757.5	157	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS816.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAGAATCT	NONE	.	.	Superfamily_domains:SSF47266,PIRSF_domain:PIRSF001948,Pfam_domain:PF05337,hmmpanther:PTHR10058	.	.	ENSP00000327513	.	5/9	.	.	.	.	.	.	.	.	COSM3470995,COSM3470994	5/9	PASS	ENST00000329608	Transcript	.	.	ENSG00000184371	2432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.965)	.	tolerated(0.12)	1,1	CSF1_HUMAN	CSF1	HGNC	H7BY18_HUMAN,E9PKP4_HUMAN	.	UPI00001AFA6F	SNV	CSF1,missense_variant,p.Lys116Asn,ENST00000488198,;CSF1,missense_variant,p.Lys157Asn,ENST00000420111,;CSF1,missense_variant,p.Lys157Asn,ENST00000369801,;CSF1,missense_variant,p.Lys157Asn,ENST00000329608,;CSF1,missense_variant,p.Lys157Asn,ENST00000369802,;CSF1,missense_variant,p.Lys157Asn,ENST00000344188,;CSF1,downstream_gene_variant,,ENST00000527192,;CSF1,downstream_gene_variant,,ENST00000525659,;CSF1,downstream_gene_variant,,ENST00000357302,;CSF1,non_coding_transcript_exon_variant,,ENST00000526001,;	862	187	226	SUCCESS
LRIF1	55791	.	GRCh37	1	111492489	111492489	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	42	0	ENST00000369763.4:c.1853A>C	p.Glu618Ala	p.E618A	ENST00000369763	NM_018372.3	618	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS30800.1	1853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTCCTTC	NONE	.	.	hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2	.	.	ENSP00000358778	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000369763	Transcript	.	.	ENSG00000121931	30299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.05)	.	LRIF1_HUMAN	LRIF1	HGNC	.	.	UPI0000205296	SNV	LRIF1,missense_variant,p.Glu82Ala,ENST00000494675,;LRIF1,missense_variant,p.Glu618Ala,ENST00000369763,;LRIF1,missense_variant,p.Glu82Ala,ENST00000485275,;RP11-96K19.2,intron_variant,,ENST00000440689,;	2244	42	74	SUCCESS
CTTNBP2NL	55917	.	GRCh37	1	112999847	112999847	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs763811895	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	21	101	1	ENST00000271277.6:c.1733A>C	p.Asn578Thr	p.N578T	ENST00000271277	NM_018704.2	578	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS845.1	1733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAACCCTC	NONE	.	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF9	.	.	ENSP00000271277	.	6/6	.	.	.	.	.	.	.	.	rs763811895	6/6	PASS	ENST00000271277	Transcript	.	.	ENSG00000143079	25330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0.03)	.	CT2NL_HUMAN	CTTNBP2NL	HGNC	B1AMN7_HUMAN	.	UPI000006ED23	SNV	CTTNBP2NL,missense_variant,p.Asn578Thr,ENST00000271277,;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,;CTTNBP2NL,non_coding_transcript_exon_variant,,ENST00000607039,;	1958	102	115	SUCCESS
NRAS	4893	.	GRCh37	1	115256463	115256463	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	59	0	ENST00000369535.4:c.248C>G	p.Ala83Gly	p.A83G	ENST00000369535	NM_002524.4	83	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS877.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGCAAAT	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF189,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540	.	.	ENSP00000358548	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000369535	Transcript	.	.	ENSG00000213281	7989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	deleterious(0)	.	RASN_HUMAN	NRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,Q5U091_HUMAN,P78460_HUMAN	.	UPI0000001254	SNV	NRAS,missense_variant,p.Ala83Gly,ENST00000369535,;CSDE1,downstream_gene_variant,,ENST00000369530,;CSDE1,downstream_gene_variant,,ENST00000261443,;CSDE1,downstream_gene_variant,,ENST00000358528,;CSDE1,downstream_gene_variant,,ENST00000339438,;CSDE1,downstream_gene_variant,,ENST00000530886,;CSDE1,downstream_gene_variant,,ENST00000534699,;CSDE1,downstream_gene_variant,,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000483407,;	502	59	80	SUCCESS
MIIP	60672	.	GRCh37	1	12082290	12082290	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143962307	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	119	0	ENST00000235332.4:c.253C>T	p.Arg85Cys	p.R85C	ENST00000235332	NM_021933.3	85	Cgt/Tgt	0	T:0.0005	T:0	.	T:0.0014	.	T	R/C	protein_coding	YES	CCDS143.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCGTGAT	NONE	byFrequency|byCluster|by1000G	.	.	T:0.004	T:0	ENSP00000235332	T:0	3/10	.	.	.	.	.	.	.	.	rs143962307	3/10	PASS	ENST00000235332	Transcript	.	T:0.0010	ENSG00000116691	25715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0	tolerated(0.21)	.	MIIP_HUMAN	MIIP	HGNC	.	.	UPI000013C9CB	SNV	MIIP,missense_variant,p.Arg85Cys,ENST00000235332,;MIIP,missense_variant,p.Arg85Cys,ENST00000436478,;Y_RNA,downstream_gene_variant,,ENST00000365591,;MIIP,non_coding_transcript_exon_variant,,ENST00000478749,;MIIP,non_coding_transcript_exon_variant,,ENST00000466860,;MIIP,upstream_gene_variant,,ENST00000498685,;RP5-1077B9.5,upstream_gene_variant,,ENST00000603287,;	422	119	102	SUCCESS
LRRC38	126755	.	GRCh37	1	13839858	13839858	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	36	134	0	ENST00000376085.3:c.231C>T	p.Ile77=	p.I77=	ENST00000376085	NM_001010847.1	77	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS53269.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAGATGAA	NONE	.	.	Superfamily_domains:SSF52058,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24373,PROSITE_profiles:PS51450	.	.	ENSP00000365253	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376085	Transcript	.	.	ENSG00000162494	27005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC38_HUMAN	LRRC38	HGNC	.	.	UPI00001C1D7E	SNV	LRRC38,synonymous_variant,p.%3D,ENST00000376085,;RP4-597A16.2,intron_variant,,ENST00000563570,;	686	134	125	SUCCESS
NBPF10	100132406	.	GRCh37	1	145304497	145304497	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	16	50	0	ENST00000342960.5:c.1430A>C	p.Glu477Ala	p.E477A	ENST00000342960	NM_001039703.5	477	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	.	1430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAATGTG	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16,Pfam_domain:PF06758	.	.	ENSP00000345684	.	10/84	.	.	.	.	.	.	.	.	.	10/84	PASS	ENST00000342960	Transcript	.	.	ENSG00000163386	31992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.581)	.	.	.	.	NBPF10	HGNC	S4R3H5_HUMAN,A6NDV3_HUMAN	.	UPI0001CE93AE	SNV	NBPF10,missense_variant,p.Glu143Ala,ENST00000605176,;NBPF10,missense_variant,p.Glu206Ala,ENST00000369339,;NBPF10,missense_variant,p.Glu477Ala,ENST00000342960,;NBPF10,missense_variant,p.Glu206Ala,ENST00000369338,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,missense_variant,p.Glu477Ala,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;	1465	50	89	SUCCESS
SLC27A3	11000	.	GRCh37	1	153747926	153747926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	46	0	ENST00000368661.3:c.94T>C	p.Phe32Leu	p.F32L	ENST00000368661	NM_024330.1	32	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1053.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTTTGCG	NONE	.	.	hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096	.	.	ENSP00000357650	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000368661	Transcript	.	.	ENSG00000143554	10997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(1)	.	S27A3_HUMAN	SLC27A3	HGNC	.	.	UPI0000038E9E	SNV	SLC27A3,missense_variant,p.Phe113Leu,ENST00000271857,;SLC27A3,missense_variant,p.Phe32Leu,ENST00000368661,;SLC27A3,upstream_gene_variant,,ENST00000524676,;INTS3,downstream_gene_variant,,ENST00000435409,;INTS3,downstream_gene_variant,,ENST00000318967,;SLC27A3,upstream_gene_variant,,ENST00000458027,;SLC27A3,upstream_gene_variant,,ENST00000532853,;INTS3,downstream_gene_variant,,ENST00000512605,;INTS3,downstream_gene_variant,,ENST00000456435,;SLC27A3,splice_donor_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,upstream_gene_variant,,ENST00000483574,;INTS3,downstream_gene_variant,,ENST00000503133,;SLC27A3,upstream_gene_variant,,ENST00000468044,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,upstream_gene_variant,,ENST00000368659,;SLC27A3,upstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000531251,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000481797,;	159	46	39	SUCCESS
FAM189B	10712	.	GRCh37	1	155220590	155220590	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	56	0	ENST00000361361.2:c.987G>A	p.Leu329=	p.L329=	ENST00000361361	NM_006589.2	329	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1103.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCAGAGA	NONE	.	.	hmmpanther:PTHR17615:SF7,hmmpanther:PTHR17615	.	.	ENSP00000354958	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000361361	Transcript	.	.	ENSG00000160767	1233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F189B_HUMAN	FAM189B	HGNC	.	.	UPI00000710DE	SNV	FAM189B,synonymous_variant,p.%3D,ENST00000350210,;FAM189B,synonymous_variant,p.%3D,ENST00000361361,;FAM189B,synonymous_variant,p.%3D,ENST00000368368,;FAM189B,intron_variant,,ENST00000491082,;FAM189B,non_coding_transcript_exon_variant,,ENST00000472550,;FAM189B,non_coding_transcript_exon_variant,,ENST00000368366,;FAM189B,non_coding_transcript_exon_variant,,ENST00000497941,;FAM189B,intron_variant,,ENST00000487649,;FAM189B,downstream_gene_variant,,ENST00000481822,;	1497	56	69	SUCCESS
PKLR	5313	.	GRCh37	1	155269945	155269945	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	32	75	0	ENST00000342741.4:c.227T>G	p.Leu76Arg	p.L76R	ENST00000342741	NM_000298.5	76	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS1109.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAGTAGG	NONE	.	.	hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF9,Superfamily_domains:SSF51621	.	.	ENSP00000339933	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000342741	Transcript	.	.	ENSG00000143627	9020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KPYR_HUMAN	PKLR	HGNC	Q16715_HUMAN,B4DPM0_HUMAN	.	UPI0000001292	SNV	PKLR,missense_variant,p.Leu76Arg,ENST00000342741,;PKLR,missense_variant,p.Leu45Arg,ENST00000392414,;PKLR,synonymous_variant,p.%3D,ENST00000434082,;	266	75	143	SUCCESS
PMF1-BGLAP	100527963	.	GRCh37	1	156195414	156195414	+	intron_variant	Intron	SNP	A	A	G	rs1285607892	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	49	91	0	ENST00000368276.4:c.162-6697A>G		p.*54*	ENST00000368276	NM_001199661.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55650.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAACAGGC	NONE	.	.	.	.	.	ENSP00000458021	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000567140	Transcript	.	.	ENSG00000160783	9112	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMF1_HUMAN	PMF1	HGNC	.	.	UPI000046FD0A	SNV	PMF1,synonymous_variant,p.%3D,ENST00000368273,;PMF1,intron_variant,,ENST00000567140,;PMF1-BGLAP,intron_variant,,ENST00000368276,;PMF1-BGLAP,intron_variant,,ENST00000490491,;PMF1,intron_variant,,ENST00000565805,;PMF1,intron_variant,,ENST00000368277,;PMF1,intron_variant,,ENST00000368279,;PMF1-BGLAP,intron_variant,,ENST00000320139,;PMF1,synonymous_variant,p.%3D,ENST00000497069,;PMF1,3_prime_UTR_variant,,ENST00000466489,;PMF1,intron_variant,,ENST00000606952,;	.	91	141	SUCCESS
INSRR	3645	.	GRCh37	1	156821786	156821786	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150841787	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	40	81	0	ENST00000368195.3:c.835C>T	p.Arg279Cys	p.R279C	ENST00000368195	NM_014215.2	279	Cgc/Tgc	0	A:0.0016	A:0.0015	.	A:0	.	A	R/C	protein_coding	YES	CCDS1160.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGCTCAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:2.10.220.10,Pfam_domain:PF00757,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF57184	A:0	A:0	ENSP00000357178	A:0	3/22	.	.	.	.	.	.	.	.	rs150841787	3/22	PASS	ENST00000368195	Transcript	.	A:0.0004	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.436)	A:0	tolerated(0.13)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Arg279Cys,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	1232	81	120	SUCCESS
VSIG8	391123	.	GRCh37	1	159826390	159826390	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	99	0	ENST00000368100.1:c.696A>T	p.Ala232=	p.A232=	ENST00000368100	NM_001013661.1	232	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30913.1	696	MUTECT|MUSE	.	TCATCTGCTCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF75,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357080	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000368100	Transcript	.	.	ENSG00000243284	32063	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VSIG8_HUMAN	VSIG8	HGNC	.	.	UPI0000458A8F	SNV	VSIG8,synonymous_variant,p.%3D,ENST00000368100,;C1orf204,upstream_gene_variant,,ENST00000368102,;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;	832	99	94	SUCCESS
NIT1	4817	.	GRCh37	1	161089103	161089103	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs149045755	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	88	0	ENST00000368009.2:c.278G>C	p.Arg93Pro	p.R93P	ENST00000368009	NM_005600.2	93	cGg/cCg	0	A:0.0002	A:0	.	A:0	.	C	R/P	protein_coding	YES	CCDS1218.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGGGACC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50263,hmmpanther:PTHR23088,hmmpanther:PTHR23088:SF5,Gene3D:3.60.110.10,Pfam_domain:PF00795,Superfamily_domains:SSF56317	A:0	A:0	ENSP00000356988	A:0	3/7	.	.	.	.	.	.	.	.	rs149045755	3/7	PASS	ENST00000368009	Transcript	.	A:0.0002	ENSG00000158793	7828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	A:0.001	tolerated(0.14)	.	NIT1_HUMAN	NIT1	HGNC	.	.	UPI00000715F9	SNV	NIT1,missense_variant,p.Arg93Pro,ENST00000368008,;NIT1,missense_variant,p.Arg93Pro,ENST00000368009,;NIT1,missense_variant,p.Arg57Pro,ENST00000392190,;NIT1,missense_variant,p.Arg78Pro,ENST00000368007,;DEDD,downstream_gene_variant,,ENST00000490843,;DEDD,downstream_gene_variant,,ENST00000464113,;DEDD,downstream_gene_variant,,ENST00000368006,;PFDN2,upstream_gene_variant,,ENST00000368010,;DEDD,downstream_gene_variant,,ENST00000458050,;DEDD,downstream_gene_variant,,ENST00000392188,;DEDD,downstream_gene_variant,,ENST00000368005,;DEDD,downstream_gene_variant,,ENST00000545495,;NIT1,non_coding_transcript_exon_variant,,ENST00000486962,;NIT1,non_coding_transcript_exon_variant,,ENST00000461376,;NIT1,non_coding_transcript_exon_variant,,ENST00000491497,;NIT1,non_coding_transcript_exon_variant,,ENST00000496768,;NIT1,non_coding_transcript_exon_variant,,ENST00000477684,;NIT1,non_coding_transcript_exon_variant,,ENST00000496861,;NIT1,non_coding_transcript_exon_variant,,ENST00000492411,;NIT1,non_coding_transcript_exon_variant,,ENST00000485594,;NIT1,non_coding_transcript_exon_variant,,ENST00000479266,;NIT1,downstream_gene_variant,,ENST00000478277,;DEDD,downstream_gene_variant,,ENST00000486041,;NIT1,downstream_gene_variant,,ENST00000473918,;DEDD,downstream_gene_variant,,ENST00000489249,;DEDD,downstream_gene_variant,,ENST00000472996,;NIT1,upstream_gene_variant,,ENST00000479728,;PFDN2,upstream_gene_variant,,ENST00000468311,;DEDD,downstream_gene_variant,,ENST00000473679,;DEDD,downstream_gene_variant,,ENST00000496632,;DEDD,downstream_gene_variant,,ENST00000463227,;	354	88	98	SUCCESS
UCK2	7371	.	GRCh37	1	165796940	165796941	+	5_prime_UTR_variant	5'UTR	DEL	GC	GC	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	46	0	ENST00000367879.4:c.-130_-129del		p.*44*	ENST00000367879	NM_012474.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1252.1	.	INDELOCATOR*|PINDEL	.	TCGCAGGCGAGCG	NONE	.	.	.	.	.	ENSP00000356853	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000367879	Transcript	.	.	ENSG00000143179	12562	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UCK2_HUMAN	UCK2	HGNC	.	.	UPI000003AFFE	deletion	UCK2,5_prime_UTR_variant,,ENST00000367879,;TMCO1,5_prime_UTR_variant,,ENST00000580248,;UCK2,upstream_gene_variant,,ENST00000372212,;	173-174	46	70	SUCCESS
METTL13	0	.	GRCh37	1	171751168	171751168	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	90	0	ENST00000361735.3:c.61T>C	p.Phe21Leu	p.F21L	ENST00000361735	NM_015935.4	21	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1299.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTTCCAG	NONE	.	.	hmmpanther:PTHR12176:SF13,hmmpanther:PTHR12176,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000354920	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0)	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,missense_variant,p.Phe20Leu,ENST00000458517,;METTL13,missense_variant,p.Phe21Leu,ENST00000361735,;METTL13,missense_variant,p.Phe21Leu,ENST00000367737,;METTL13,intron_variant,,ENST00000362019,;METTL13,non_coding_transcript_exon_variant,,ENST00000485629,;	327	90	109	SUCCESS
EDEM3	80267	.	GRCh37	1	184681698	184681698	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	62	55	0	ENST00000318130.8:c.1405T>C	p.Tyr469His	p.Y469H	ENST00000318130	NM_025191.3	469	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS1363.2	1405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATATTTAA	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF30,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225,Prints_domain:PR00747	.	.	ENSP00000318147	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000318130	Transcript	.	.	ENSG00000116406	16787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EDEM3_HUMAN	EDEM3	HGNC	Q7L2Y5_HUMAN,H0Y498_HUMAN	.	UPI0000470A2B	SNV	EDEM3,missense_variant,p.Tyr426His,ENST00000367512,;EDEM3,missense_variant,p.Tyr469His,ENST00000318130,;EDEM3,upstream_gene_variant,,ENST00000466392,;EDEM3,upstream_gene_variant,,ENST00000439962,;	1672	55	176	SUCCESS
SYT14	255928	.	GRCh37	1	210187041	210187041	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	36	0	ENST00000472886.1:c.125T>G	p.Leu42Arg	p.L42R	ENST00000472886		42	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS53469.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTTTTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF209	.	.	ENSP00000389039	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000422431	Transcript	.	.	ENSG00000143469	23143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	SYT14_HUMAN	SYT14	HGNC	A1L3Y1_HUMAN	.	UPI0001639EBD	SNV	SYT14,missense_variant,p.Leu42Arg,ENST00000399639,;SYT14,missense_variant,p.Leu42Arg,ENST00000472886,;SYT14,missense_variant,p.Leu42Arg,ENST00000534859,;SYT14,missense_variant,p.Leu87Arg,ENST00000422431,;SYT14,missense_variant,p.Leu4Arg,ENST00000367015,;SYT14,missense_variant,p.Leu42Arg,ENST00000367019,;SYT14,missense_variant,p.Leu4Arg,ENST00000537238,;SYT14,non_coding_transcript_exon_variant,,ENST00000271745,;	318	36	92	SUCCESS
SLC30A1	7779	.	GRCh37	1	211748979	211748980	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	CCTAC	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	64	0	ENST00000367001.4:c.1270_1274dup	p.Ser426Ter	p.S426*	ENST00000367001	NM_021194.2	425	ggc/ggGTAGGc	0	.	.	.	.	.	CCTAC	G/G*X	protein_coding	YES	CCDS1499.1	1274-1275	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAGAGCCTAC	NONE	.	.	hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562	.	.	ENSP00000355968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	insertion	SLC30A1,stop_gained,p.Ser426Ter,ENST00000367001,;	1404-1405	64	73	SUCCESS
CENPF	1063	.	GRCh37	1	214811265	214811265	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	508	24	291	0	ENST00000366955.3:c.1503A>C	p.Glu501Asp	p.E501D	ENST00000366955	NM_016343.3	501	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS31023.1	1503	MUTECT|MUSE	.	AGAGAAGTCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Glu501Asp,ENST00000366955,;	1671	291	532	SUCCESS
EPRS	0	.	GRCh37	1	220156627	220156627	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	92	166	0	ENST00000366923.3:c.3204C>A	p.Ile1068=	p.I1068=	ENST00000366923	NM_004446.2	1068	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31027.1	3204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGATCTC	NONE	.	.	Superfamily_domains:SSF55681,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00408,Pfam_domain:PF00587,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119,PROSITE_profiles:PS50862,HAMAP:MF_01571	.	.	ENSP00000355890	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,synonymous_variant,p.%3D,ENST00000366923,;EPRS,downstream_gene_variant,,ENST00000609181,;snoU13,downstream_gene_variant,,ENST00000459217,;EPRS,non_coding_transcript_exon_variant,,ENST00000485821,;	3474	166	276	SUCCESS
RYR2	6262	.	GRCh37	1	237948162	237948162	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1008031175	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	45	0	ENST00000366574.2:c.13150C>A	p.Leu4384Met	p.L4384M	ENST00000366574	NM_001035.2	4384	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS55691.1	13150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCTGAAG	NONE	.	.	Pfam_domain:PF06459,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	COSM1501554	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.99)	.	.	1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Leu4368Met,ENST00000542537,;RYR2,missense_variant,p.Leu4384Met,ENST00000366574,;RYR2,missense_variant,p.Leu4390Met,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	13467	45	89	SUCCESS
AKT3	10000	.	GRCh37	1	243809237	243809237	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	19	0	ENST00000263826.5:c.387A>T	p.Gly129=	p.G129=	ENST00000263826	NM_005465.4	129	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31077.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCTCCTAT	NONE	.	.	hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF29	.	.	ENSP00000355497	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000366539	Transcript	.	.	ENSG00000117020	393	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKT3_HUMAN	AKT3	HGNC	F8VS91_HUMAN	.	UPI00000335E8	SNV	AKT3,synonymous_variant,p.%3D,ENST00000552631,;AKT3,synonymous_variant,p.%3D,ENST00000263826,;AKT3,synonymous_variant,p.%3D,ENST00000366539,;AKT3,synonymous_variant,p.%3D,ENST00000336199,;AKT3,synonymous_variant,p.%3D,ENST00000366540,;	588	19	33	SUCCESS
ARID1A	8289	.	GRCh37	1	27101213	27101213	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	67	0	ENST00000324856.7:c.4495C>T	p.Gln1499Ter	p.Q1499*	ENST00000324856	NM_006015.4	1499	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS285.1	4495	MUTECT|MUSE	.	TGTGGCAGGGG	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,stop_gained,p.Gln1116Ter,ENST00000374152,;ARID1A,stop_gained,p.Gln396Ter,ENST00000430799,;ARID1A,stop_gained,p.Gln1499Ter,ENST00000324856,;ARID1A,intron_variant,,ENST00000457599,;ARID1A,intron_variant,,ENST00000540690,;ARID1A,intron_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;	4866	67	95	SUCCESS
RAB42	115273	.	GRCh37	1	28920207	28920207	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	33	0	ENST00000373826.3:c.-105T>A		p.X35_splice	ENST00000373826	NM_152304.1	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS325.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCAGGTGCATC	NONE	.	.	.	.	.	ENSP00000362932	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373826	Transcript	.	.	ENSG00000188060	28702	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB42_HUMAN	RAB42	HGNC	.	.	UPI0000071C84	SNV	RAB42,splice_region_variant,,ENST00000373826,;RAB42,splice_region_variant,,ENST00000465518,;TAF12,intron_variant,,ENST00000471683,;	202	33	36	SUCCESS
SNRNP40	9410	.	GRCh37	1	31766196	31766196	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	73	0	ENST00000263694.4:c.142-1G>T		p.X48_splice	ENST00000263694	NM_004814.2	48		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS340.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCCTAAAC	NONE	.	.	.	.	.	ENSP00000263694	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263694	Transcript	.	.	ENSG00000060688	30857	.	.	HIGH	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNR40_HUMAN	SNRNP40	HGNC	A0MNP2_HUMAN	.	UPI000006FD38	SNV	SNRNP40,splice_acceptor_variant,,ENST00000263694,;SNRNP40,splice_acceptor_variant,,ENST00000446633,;ZCCHC17,upstream_gene_variant,,ENST00000546109,;ZCCHC17,upstream_gene_variant,,ENST00000344147,;ZCCHC17,upstream_gene_variant,,ENST00000422613,;ZCCHC17,upstream_gene_variant,,ENST00000373714,;SNRNP40,splice_acceptor_variant,,ENST00000463988,;SNRNP40,upstream_gene_variant,,ENST00000474025,;ZCCHC17,upstream_gene_variant,,ENST00000490049,;ZCCHC17,upstream_gene_variant,,ENST00000479629,;	.	73	97	SUCCESS
FNDC5	252995	.	GRCh37	1	33330349	33330349	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	54	0	ENST00000373471.3:c.549del	p.Glu183AspfsTer93	p.E183Dfs*93	ENST00000373471	NM_153756.2	183	gaA/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	.	324	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGGGTTCATT	NONE	.	.	hmmpanther:PTHR14470	.	.	ENSP00000476668	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000609187	Transcript	.	.	ENSG00000160097	20240	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FNDC5	HGNC	.	.	UPI000006EB66	deletion	FNDC5,frameshift_variant,p.Glu108AspfsTer30,ENST00000496770,;FNDC5,frameshift_variant,p.Glu108AspfsTer93,ENST00000609187,;FNDC5,frameshift_variant,p.Glu183AspfsTer93,ENST00000373471,;FNDC5,upstream_gene_variant,,ENST00000497068,;FNDC5,upstream_gene_variant,,ENST00000483143,;FNDC5,upstream_gene_variant,,ENST00000481487,;	616	54	92	SUCCESS
AGO1	26523	.	GRCh37	1	36354067	36354067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	4	79	0	ENST00000373204.4:c.65A>G	p.Gln22Arg	p.Q22R	ENST00000373204	NM_012199.2	22	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS398.1	65	MUTECT|MUSE	.	GTTCCAGGCAC	NONE	.	.	hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF17	.	.	ENSP00000362300	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000373204	Transcript	.	.	ENSG00000092847	3262	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.089)	.	tolerated(1)	.	AGO1_HUMAN	AGO1	HGNC	Q5TA58_HUMAN	.	UPI000012D07D	SNV	AGO1,missense_variant,p.Gln22Arg,ENST00000373204,;AGO1,5_prime_UTR_variant,,ENST00000373206,;	278	79	105	SUCCESS
GNL2	29889	.	GRCh37	1	38061409	38061409	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	66	0	ENST00000373062.3:c.15G>A	p.Lys5=	p.K5=	ENST00000373062	NM_013285.2	5	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS421.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTACTTGGG	NONE	.	.	.	.	.	ENSP00000362153	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000373062	Transcript	.	.	ENSG00000134697	29925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOG2_HUMAN	GNL2	HGNC	Q5T0F3_HUMAN	.	UPI0000000C9E	SNV	GNL2,synonymous_variant,p.%3D,ENST00000373062,;GNL2,non_coding_transcript_exon_variant,,ENST00000488496,;GNL2,upstream_gene_variant,,ENST00000463351,;	114	66	57	SUCCESS
TOE1	114034	.	GRCh37	1	45809148	45809148	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	53	0	ENST00000372090.5:c.1307G>A	p.Gly436Glu	p.G436E	ENST00000372090	NM_025077.3	436	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS521.1	1307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGATTGC	NONE	.	.	Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF24	.	.	ENSP00000361162	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372090	Transcript	.	.	ENSG00000132773	15954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TOE1_HUMAN	TOE1	HGNC	B3KSC7_HUMAN	.	UPI00000382DE	SNV	TOE1,missense_variant,p.Gly436Glu,ENST00000372090,;TOE1,missense_variant,p.Gly356Glu,ENST00000539779,;MUTYH,upstream_gene_variant,,ENST00000372098,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000531105,;MUTYH,upstream_gene_variant,,ENST00000372110,;MUTYH,upstream_gene_variant,,ENST00000355498,;MUTYH,upstream_gene_variant,,ENST00000450313,;MUTYH,upstream_gene_variant,,ENST00000372104,;MUTYH,upstream_gene_variant,,ENST00000372115,;TESK2,downstream_gene_variant,,ENST00000341771,;TESK2,downstream_gene_variant,,ENST00000538496,;MUTYH,upstream_gene_variant,,ENST00000528013,;MUTYH,upstream_gene_variant,,ENST00000448481,;MUTYH,upstream_gene_variant,,ENST00000456914,;MUTYH,upstream_gene_variant,,ENST00000372100,;MUTYH,upstream_gene_variant,,ENST00000488731,;MUTYH,upstream_gene_variant,,ENST00000529984,;TESK2,downstream_gene_variant,,ENST00000372086,;MUTYH,upstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000435155,;TESK2,downstream_gene_variant,,ENST00000372084,;MUTYH,upstream_gene_variant,,ENST00000354383,;MUTYH,upstream_gene_variant,,ENST00000528332,;TOE1,non_coding_transcript_exon_variant,,ENST00000495703,;TOE1,downstream_gene_variant,,ENST00000477731,;TESK2,downstream_gene_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000471337,;TOE1,downstream_gene_variant,,ENST00000460057,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000470256,;MUTYH,upstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485484,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000492494,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000479746,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000483642,;	1890	53	84	SUCCESS
MAST2	23139	.	GRCh37	1	46497890	46497890	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	52	0	ENST00000361297.2:c.3228A>T	p.Pro1076=	p.P1076=	ENST00000361297	NM_015112.2	1076	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41326.1	3228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACATTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356	.	.	ENSP00000354671	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,synonymous_variant,p.%3D,ENST00000361297,;MAST2,synonymous_variant,p.%3D,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000492813,;MAST2,downstream_gene_variant,,ENST00000477968,;	3511	52	71	SUCCESS
NRD1	0	.	GRCh37	1	52281991	52281991	+	synonymous_variant	Silent	SNP	T	T	G	rs1272315498	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	292	111	214	0	ENST00000354831.7:c.1636A>C	p.Arg546=	p.R546=	ENST00000354831	NM_002525.2	546	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS559.1	1636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTAAGGA	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,Pfam_domain:PF05193,Gene3D:3.30.830.10,Superfamily_domains:SSF63411	.	.	ENSP00000346890	.	13/33	.	.	.	.	.	.	.	.	.	13/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,synonymous_variant,p.%3D,ENST00000354831,;NRD1,synonymous_variant,p.%3D,ENST00000352171,;NRD1,synonymous_variant,p.%3D,ENST00000544028,;NRD1,synonymous_variant,p.%3D,ENST00000539524,;NRD1,upstream_gene_variant,,ENST00000440943,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000473805,;NRD1,upstream_gene_variant,,ENST00000483007,;	1826	214	403	SUCCESS
MYSM1	114803	.	GRCh37	1	59158557	59158557	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	29	0	ENST00000472487.1:c.194T>C	p.Ile65Thr	p.I65T	ENST00000472487	NM_001085487.2	65	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS41343.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAATAACA	NONE	.	.	hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF3	.	.	ENSP00000418734	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000472487	Transcript	.	.	ENSG00000162601	29401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYSM1_HUMAN	MYSM1	HGNC	.	.	UPI0000204444	SNV	MYSM1,missense_variant,p.Ile65Thr,ENST00000472487,;MYSM1,non_coding_transcript_exon_variant,,ENST00000483003,;MYSM1,non_coding_transcript_exon_variant,,ENST00000489282,;MYSM1,non_coding_transcript_exon_variant,,ENST00000466774,;MYSM1,upstream_gene_variant,,ENST00000401044,;MYSM1,upstream_gene_variant,,ENST00000493821,;	234	29	62	SUCCESS
JUN	3725	.	GRCh37	1	59248909	59248909	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	35	64	0	ENST00000371222.2:c.-167G>A		p.*56*	ENST00000371222	NM_002228.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS610.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCCTCCTC	NONE	.	.	.	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	SNV	JUN,5_prime_UTR_variant,,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	877	64	66	SUCCESS
DOCK7	85440	.	GRCh37	1	62941590	62941590	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1557597200	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	25	0	ENST00000340370.5:c.5656G>A	p.Glu1886Lys	p.E1886K	ENST00000340370	NM_033407.3	1886	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS30734.1	5656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCCACAT	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	45/49	.	.	.	.	.	.	.	.	.	45/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,missense_variant,p.Glu1906Lys,ENST00000251157,;DOCK7,missense_variant,p.Glu1886Lys,ENST00000340370,;DOCK7,missense_variant,p.Glu1080Lys,ENST00000454575,;DOCK7,non_coding_transcript_exon_variant,,ENST00000489185,;DOCK7,non_coding_transcript_exon_variant,,ENST00000467758,;	5674	25	63	SUCCESS
DNAJC6	9829	.	GRCh37	1	65775394	65775394	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	75	1	ENST00000395325.3:c.22+44779A>T		p.*8*	ENST00000395325	NM_014787.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58004.1	.	RADIA|VARSCANS	.	TTCCCAGGTTG	NONE	.	.	.	.	.	ENSP00000360108	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,5_prime_UTR_variant,,ENST00000371069,;DNAJC6,intron_variant,,ENST00000395325,;DNAJC6,intron_variant,,ENST00000263441,;DNAJC6,intron_variant,,ENST00000494710,;RP5-1044H5.1,upstream_gene_variant,,ENST00000435739,;DNAJC6,intron_variant,,ENST00000463018,;DNAJC6,intron_variant,,ENST00000483402,;	167	76	86	SUCCESS
WDR63	0	.	GRCh37	1	85551546	85551546	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	77	132	0	ENST00000294664.6:c.573A>G	p.Glu191=	p.E191=	ENST00000294664	NM_145172.3	191	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS702.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAATTTGG	NONE	.	.	hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	.	.	ENSP00000294664	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000294664	Transcript	.	.	ENSG00000162643	30711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR63_HUMAN	WDR63	HGNC	.	.	UPI00000744F1	SNV	WDR63,synonymous_variant,p.%3D,ENST00000326813,;WDR63,synonymous_variant,p.%3D,ENST00000370596,;WDR63,synonymous_variant,p.%3D,ENST00000294664,;WDR63,downstream_gene_variant,,ENST00000528899,;WDR63,synonymous_variant,p.%3D,ENST00000464801,;	753	132	249	SUCCESS
SLC2A5	6518	.	GRCh37	1	9098489	9098489	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1485079694	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	64	0	ENST00000377424.4:c.1174+1G>A		p.X392_splice	ENST00000377424	NM_003039.2	392		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS99.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTACTGGGC	NONE	.	.	.	.	.	ENSP00000366641	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377424	Transcript	.	.	ENSG00000142583	11010	.	.	HIGH	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR5_HUMAN	SLC2A5	HGNC	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN	.	UPI00000532AC	SNV	SLC2A5,splice_donor_variant,,ENST00000377424,;SLC2A5,splice_donor_variant,,ENST00000536305,;SLC2A5,splice_donor_variant,,ENST00000535586,;SLC2A5,downstream_gene_variant,,ENST00000487835,;SLC2A5,downstream_gene_variant,,ENST00000484798,;SLC2A5,downstream_gene_variant,,ENST00000377414,;SLC2A5,downstream_gene_variant,,ENST00000479813,;SLC2A5,downstream_gene_variant,,ENST00000474145,;SLC2A5,downstream_gene_variant,,ENST00000486632,;SLC2A5,downstream_gene_variant,,ENST00000487492,;	.	64	61	SUCCESS
BCAR3	8412	.	GRCh37	1	94079589	94079589	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	14	0	ENST00000260502.6:c.358-21639A>G		p.*120*	ENST00000260502	NM_003567.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTTCTGCC	NONE	.	.	.	.	.	ENSP00000359264	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370244	Transcript	.	.	ENSG00000137936	973	.	.	MODIFIER	5/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCAR3_HUMAN	BCAR3	HGNC	B3KNL6_HUMAN	.	UPI000000D971	SNV	BCAR3,5_prime_UTR_variant,,ENST00000370247,;BCAR3,intron_variant,,ENST00000370243,;BCAR3,intron_variant,,ENST00000260502,;BCAR3,intron_variant,,ENST00000370244,;BCAR3,intron_variant,,ENST00000479503,;	.	14	24	SUCCESS
SNPH	9751	.	GRCh37	20	1276832	1276832	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	92	0	ENST00000381873.3:c.-47-137C>G		p.*16*	ENST00000381873	NM_014723.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13012.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCTGCCA	NONE	.	.	.	.	.	ENSP00000371297	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381873	Transcript	.	.	ENSG00000101298	15931	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNPH_HUMAN	SNPH	HGNC	.	.	UPI000007424E	SNV	SNPH,5_prime_UTR_variant,,ENST00000381867,;SNPH,intron_variant,,ENST00000381873,;RAD21L1,intron_variant,,ENST00000402452,;RAD21L1,intron_variant,,ENST00000381882,;	.	92	86	SUCCESS
FLRT3	23767	.	GRCh37	20	14307783	14307783	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs189133975	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	5	99	0	ENST00000341420.4:c.370C>G	p.Leu124Val	p.L124V	ENST00000341420	NM_198391.2	124	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS13121.1	370	MUTECT|MUSE	.	TGAAAGTGAAT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF4,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000367292	.	2/2	.	.	.	.	.	.	.	.	rs189133975	2/2	PASS	ENST00000378053	Transcript	1	.	ENSG00000125848	3762	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FLRT3_HUMAN	FLRT3	HGNC	.	.	UPI0000001BE7	SNV	FLRT3,missense_variant,p.Leu124Val,ENST00000378053,;FLRT3,missense_variant,p.Leu124Val,ENST00000341420,;MACROD2,intron_variant,,ENST00000217246,;MACROD2,intron_variant,,ENST00000310348,;MACROD2,intron_variant,,ENST00000490428,;MACROD2,intron_variant,,ENST00000494602,;MACROD2,intron_variant,,ENST00000477147,;FLRT3,downstream_gene_variant,,ENST00000462077,;	627	99	126	SUCCESS
MGME1	92667	.	GRCh37	20	17968898	17968898	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	84	0	ENST00000377710.5:c.821C>T	p.Ala274Val	p.A274V	ENST00000377710	NM_052865.2	274	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13131.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCATACA	NONE	.	.	Superfamily_domains:SSF52980,Pfam_domain:PF12705,hmmpanther:PTHR31340:SF3,hmmpanther:PTHR31340,HAMAP:MF_03030	.	.	ENSP00000366939	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000377710	Transcript	1	.	ENSG00000125871	16205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MGME1_HUMAN	MGME1	HGNC	.	.	UPI00001285E8	SNV	MGME1,missense_variant,p.Ala194Val,ENST00000377709,;MGME1,missense_variant,p.Ala274Val,ENST00000377710,;MGME1,intron_variant,,ENST00000377704,;MGME1,non_coding_transcript_exon_variant,,ENST00000467391,;OVOL2,intron_variant,,ENST00000486776,;MGME1,intron_variant,,ENST00000463219,;	1109	84	89	SUCCESS
REM1	28954	.	GRCh37	20	30070207	30070207	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781287499	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	47	0	ENST00000201979.2:c.541C>T	p.Arg181Cys	p.R181C	ENST00000201979	NM_014012.5	181	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13181.1	541	RADIA|MUTECT|MUSE	.	TGCGGCGCACA	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,PIRSF_domain:PIRSF038017,Superfamily_domains:SSF52540	.	.	ENSP00000201979	.	4/5	.	.	.	.	.	.	.	.	rs781287499	4/5	PASS	ENST00000201979	Transcript	.	.	ENSG00000088320	15922	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	REM1_HUMAN	REM1	HGNC	.	.	UPI0000073CEB	SNV	REM1,missense_variant,p.Arg181Cys,ENST00000201979,;LINC00028,upstream_gene_variant,,ENST00000435497,;	834	47	40	SUCCESS
TOP1	7150	.	GRCh37	20	39750683	39750683	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	48	139	0	ENST00000361337.2:c.2083G>A	p.Glu695Lys	p.E695K	ENST00000361337	NM_003286.2	695	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13312.1	2083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGAGGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1,Pfam_domain:PF14370,Gene3D:1.10.132.10,SMART_domains:SM00435,Superfamily_domains:0045703	.	.	ENSP00000354522	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000361337	Transcript	.	.	ENSG00000198900	11986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.41)	.	TOP1_HUMAN	TOP1	HGNC	Q9BVT2_HUMAN	.	UPI000004F0B1	SNV	TOP1,missense_variant,p.Glu695Lys,ENST00000361337,;RP1-1J6.2,intron_variant,,ENST00000454626,;	2333	139	204	SUCCESS
MATN4	8785	.	GRCh37	20	43922619	43922619	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1374684839	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	23	0	ENST00000372754.1:c.1739C>T	p.Pro580Leu	p.P580L	ENST00000372754		580	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13348.1	1616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATGGGCTC	NONE	.	.	Superfamily_domains:0053392,Gene3D:1aq5A00,Pfam_domain:PF10393,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16	.	.	ENSP00000440328	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000537548	Transcript	.	.	ENSG00000124159	6910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	.	.	MATN4_HUMAN	MATN4	HGNC	.	.	UPI000016054E	SNV	MATN4,missense_variant,p.Pro539Leu,ENST00000372756,;MATN4,missense_variant,p.Pro580Leu,ENST00000372754,;MATN4,missense_variant,p.Pro539Leu,ENST00000537548,;MATN4,missense_variant,p.Pro457Leu,ENST00000353917,;MATN4,missense_variant,p.Pro539Leu,ENST00000342716,;MATN4,missense_variant,p.Pro498Leu,ENST00000360607,;MATN4,missense_variant,p.Pro390Leu,ENST00000372751,;	1861	23	25	SUCCESS
CSE1L	1434	.	GRCh37	20	47695153	47695153	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	23	0	ENST00000262982.2:c.1476A>G	p.Arg492=	p.R492=	ENST00000262982	NM_001316.3	492	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS13412.1	1476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGAAATCA	NONE	.	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF8,Gene3D:1.25.10.10,Pfam_domain:PF08506,Superfamily_domains:SSF48371	.	.	ENSP00000262982	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000262982	Transcript	.	.	ENSG00000124207	2431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPO2_HUMAN	CSE1L	HGNC	.	.	UPI000013D377	SNV	CSE1L,synonymous_variant,p.%3D,ENST00000542325,;CSE1L,synonymous_variant,p.%3D,ENST00000396192,;CSE1L,synonymous_variant,p.%3D,ENST00000262982,;	1599	23	52	SUCCESS
BCAS1	8537	.	GRCh37	20	52675210	52675210	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	29	0	ENST00000395961.3:c.48T>A	p.Asn16Lys	p.N16K	ENST00000395961	NM_003657.2	16	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS13444.1	48	RADIA|MUTECT|MUSE	.	GGTTCATTCTC	NONE	.	.	hmmpanther:PTHR15016	.	.	ENSP00000379290	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000395961	Transcript	.	.	ENSG00000064787	974	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.1)	.	BCAS1_HUMAN	BCAS1	HGNC	.	.	UPI000013D2E2	SNV	BCAS1,missense_variant,p.Asn16Lys,ENST00000395961,;BCAS1,missense_variant,p.Asn16Lys,ENST00000371435,;BCAS1,missense_variant,p.Asn16Lys,ENST00000371440,;BCAS1,intron_variant,,ENST00000411563,;	215	29	43	SUCCESS
CASS4	57091	.	GRCh37	20	55027580	55027580	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	50	0	ENST00000360314.3:c.1348A>T	p.Lys450Ter	p.K450*	ENST00000360314	NM_001164116.1	450	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS33492.1	1348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAAGGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654,Pfam_domain:PF08824	.	.	ENSP00000360387	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000371336	Transcript	.	.	ENSG00000087589	15878	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASS4_HUMAN	CASS4	HGNC	.	.	UPI00001285DB	SNV	CASS4,stop_gained,p.Lys450Ter,ENST00000371336,;CASS4,stop_gained,p.Lys450Ter,ENST00000360314,;CASS4,intron_variant,,ENST00000434344,;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	1549	50	62	SUCCESS
DIDO1	11083	.	GRCh37	20	61526440	61526440	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	54	0	ENST00000266070.4:c.2292T>C	p.Ser764=	p.S764=	ENST00000266070	NM_033081.2	764	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33506.1	2292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTAGATAC	NONE	.	.	PROSITE_profiles:PS51321,hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914,Pfam_domain:PF07500,Gene3D:1enwA00,SMART_domains:SM00510,Superfamily_domains:0037100	.	.	ENSP00000266070	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,synonymous_variant,p.%3D,ENST00000266070,;DIDO1,synonymous_variant,p.%3D,ENST00000395335,;DIDO1,synonymous_variant,p.%3D,ENST00000395340,;DIDO1,synonymous_variant,p.%3D,ENST00000395343,;	2618	54	77	SUCCESS
FAM110A	83541	.	GRCh37	20	826010	826010	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	43	155	0	ENST00000246100.3:c.563A>T	p.Lys188Met	p.K188M	ENST00000246100	NM_207121.3	188	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS13008.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAAGTCGG	NONE	.	.	hmmpanther:PTHR14758,hmmpanther:PTHR14758:SF4,Pfam_domain:PF14160	.	.	ENSP00000354163	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304189	Transcript	.	.	ENSG00000125898	16188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F110A_HUMAN	FAM110A	HGNC	.	.	UPI00001285E4	SNV	FAM110A,missense_variant,p.Lys82Met,ENST00000505691,;FAM110A,missense_variant,p.Lys188Met,ENST00000541082,;FAM110A,missense_variant,p.Lys188Met,ENST00000246100,;FAM110A,missense_variant,p.Lys188Met,ENST00000304189,;FAM110A,missense_variant,p.Lys188Met,ENST00000381939,;FAM110A,missense_variant,p.Lys188Met,ENST00000381941,;	944	155	124	SUCCESS
PLCB1	23236	.	GRCh37	20	8608966	8608966	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	31	88	0	ENST00000338037.6:c.272A>G	p.Asp91Gly	p.D91G	ENST00000338037	NM_015192.3	91	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13102.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGATGTGG	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729	.	.	ENSP00000338185	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.72)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Asp91Gly,ENST00000378641,;PLCB1,missense_variant,p.Asp91Gly,ENST00000338037,;PLCB1,missense_variant,p.Asp90Gly,ENST00000404098,;PLCB1,missense_variant,p.Asp91Gly,ENST00000378637,;	299	88	118	SUCCESS
GRIK1	2897	.	GRCh37	21	30927495	30927497	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	CAC	CAC	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	50	0	ENST00000399907.1:c.2483_2485del	p.Ser828_Ala829delinsThr	p.S828_A829delinsT	ENST00000399907	NM_000830.3	828	aGTGcc/acc	0	.	.	.	.	.	-	SA/T	protein_coding	YES	CCDS42913.1	2483-2485	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGGCACTGGCT	NONE	.	.	Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36	.	.	ENSP00000382791	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000399907	Transcript	.	.	ENSG00000171189	4579	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRIK1_HUMAN	GRIK1	HGNC	Q9UNN1_HUMAN,Q71UA3_HUMAN	.	UPI000012B612	deletion	GRIK1,inframe_deletion,p.Ser828_Ala829delinsThr,ENST00000327783,;GRIK1,inframe_deletion,p.Ser828_Ala829delinsThr,ENST00000389124,;GRIK1,inframe_deletion,p.Ser813_Ala814delinsThr,ENST00000399914,;GRIK1,inframe_deletion,p.Ser830_Ala831delinsThr,ENST00000535441,;GRIK1,inframe_deletion,p.Ser828_Ala829delinsThr,ENST00000399907,;GRIK1,inframe_deletion,p.Ser813_Ala814delinsThr,ENST00000399909,;GRIK1,inframe_deletion,p.Ser828_Ala829delinsThr,ENST00000399913,;GRIK1,inframe_deletion,p.Ser830_Ala831delinsThr,ENST00000309434,;GRIK1,inframe_deletion,p.Ser813_Ala814delinsThr,ENST00000389125,;BACH1,intron_variant,,ENST00000468059,;BACH1,intron_variant,,ENST00000422809,;	2895-2897	50	52	SUCCESS
BACE2	25825	.	GRCh37	21	42622773	42622773	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	44	0	ENST00000330333.6:c.1079T>C	p.Ile360Thr	p.I360T	ENST00000330333	NM_012105.4	360	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS13668.1	1079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATCTACC	NONE	.	.	hmmpanther:PTHR13683:SF262,hmmpanther:PTHR13683,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	.	.	ENSP00000332979	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,missense_variant,p.Ile360Thr,ENST00000328735,;BACE2,missense_variant,p.Ile360Thr,ENST00000330333,;BACE2,intron_variant,,ENST00000347667,;BACE2,non_coding_transcript_exon_variant,,ENST00000465326,;BACE2,non_coding_transcript_exon_variant,,ENST00000466122,;BACE2,non_coding_transcript_exon_variant,,ENST00000487994,;BACE2,non_coding_transcript_exon_variant,,ENST00000463674,;BACE2,upstream_gene_variant,,ENST00000475618,;BACE2,downstream_gene_variant,,ENST00000491838,;	1542	44	61	SUCCESS
PDXK	8566	.	GRCh37	21	45152295	45152295	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	75	0	ENST00000291565.4:c.88-1655A>C		p.*30*	ENST00000291565	NM_003681.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13699.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGATGCTG	NONE	.	.	.	.	.	ENSP00000291565	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291565	Transcript	.	.	ENSG00000160209	8819	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDXK_HUMAN	PDXK	HGNC	G1UI32_HUMAN	.	UPI0000131524	SNV	PDXK,missense_variant,p.Met13Leu,ENST00000327574,;PDXK,intron_variant,,ENST00000398081,;PDXK,intron_variant,,ENST00000468090,;PDXK,intron_variant,,ENST00000291565,;PDXK,non_coding_transcript_exon_variant,,ENST00000476313,;PDXK,intron_variant,,ENST00000498040,;PDXK,intron_variant,,ENST00000398085,;PDXK,intron_variant,,ENST00000470029,;PDXK,intron_variant,,ENST00000472777,;PDXK,upstream_gene_variant,,ENST00000481512,;PDXK,downstream_gene_variant,,ENST00000438837,;	.	75	95	SUCCESS
COL6A2	1292	.	GRCh37	21	47549212	47549215	+	intron_variant	Intron	DEL	TAAA	TAAA	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	TAAA	TAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	147	0	ENST00000300527.4:c.2462-2656_2462-2653del		p.*821*	ENST00000300527	NM_001849.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13728.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTTGCTAAACGCCA	NONE	.	.	.	.	.	ENSP00000300527	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	.	.	MODIFIER	27/27	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	deletion	COL6A2,frameshift_variant,p.Leu855ProfsTer32,ENST00000397763,;COL6A2,frameshift_variant,p.Leu855ProfsTer32,ENST00000357838,;COL6A2,3_prime_UTR_variant,,ENST00000310645,;COL6A2,3_prime_UTR_variant,,ENST00000409416,;COL6A2,intron_variant,,ENST00000300527,;COL6A2,downstream_gene_variant,,ENST00000413758,;	.	147	128	SUCCESS
CECR6	0	.	GRCh37	22	17601446	17601453	+	frameshift_variant	Frame_Shift_Del	DEL	GCGCAGCC	GCGCAGCC	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	GCGCAGCC	GCGCAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	24	0	ENST00000331437.3:c.565_572del	p.Gly189ProfsTer43	p.G189Pfs*43	ENST00000331437	NM_031890.3	189	GGCTGCGCc/c	0	.	.	.	.	.	-	GCA/X	protein_coding	YES	CCDS13740.1	565-572	INDELOCATOR*|PINDEL	.	CTGGGGGCGCAGCCGCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF1	.	.	ENSP00000329318	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331437	Transcript	.	.	ENSG00000183307	1844	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CECR6_HUMAN	CECR6	HGNC	.	.	UPI0000127513	deletion	CECR6,frameshift_variant,p.Gly189ProfsTer43,ENST00000331437,;CECR6,intron_variant,,ENST00000399875,;AC006946.15,upstream_gene_variant,,ENST00000441544,;IL17RA,downstream_gene_variant,,ENST00000319363,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	691-698	24	40	SUCCESS
RIMBP3C	150221	.	GRCh37	22	21900361	21900361	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	43	0	ENST00000433039.1:c.4905C>G	p.Ser1635=	p.S1635=	ENST00000433039	NM_001128633.1	1635	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS46669.1	4905	RADIA|VARSCANS	.	TGGAGGGACAT	NONE	.	.	PROSITE_profiles:PS50002,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000390630	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000433039	Transcript	.	.	ENSG00000183246	33892	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIM3C_HUMAN	RIMBP3C	HGNC	J3KP16_HUMAN	.	UPI0000237947	SNV	RIMBP3C,synonymous_variant,p.%3D,ENST00000433039,;RIMBP3C,synonymous_variant,p.%3D,ENST00000331505,;UBE2L3,upstream_gene_variant,,ENST00000458578,;SCARNA17,downstream_gene_variant,,ENST00000516334,;SCARNA18,downstream_gene_variant,,ENST00000516796,;RN7SKP221,upstream_gene_variant,,ENST00000410420,;	5390	43	56	SUCCESS
CCDC116	164592	.	GRCh37	22	21988580	21988580	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	44	0	ENST00000292779.3:c.342A>G	p.Pro114=	p.P114=	ENST00000292779	NM_152612.2	114	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS13791.1	342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGTGGA	NONE	.	.	.	.	.	ENSP00000292779	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000292779	Transcript	.	.	ENSG00000161180	26688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC116_HUMAN	CCDC116	HGNC	.	.	UPI00000741C9	SNV	CCDC116,synonymous_variant,p.%3D,ENST00000607942,;CCDC116,synonymous_variant,p.%3D,ENST00000292779,;YDJC,upstream_gene_variant,,ENST00000398873,;YDJC,upstream_gene_variant,,ENST00000292778,;CCDC116,downstream_gene_variant,,ENST00000425975,;YDJC,upstream_gene_variant,,ENST00000415762,;YDJC,upstream_gene_variant,,ENST00000482998,;YDJC,upstream_gene_variant,,ENST00000464015,;YDJC,upstream_gene_variant,,ENST00000468686,;YDJC,upstream_gene_variant,,ENST00000473985,;	503	44	50	SUCCESS
SPECC1L	23384	.	GRCh37	22	24698203	24698203	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs747863784	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	59	132	0	ENST00000314328.9:c.5del	p.Lys2ArgfsTer16	p.K2Rfs*16	ENST00000314328	NM_015330.4	2	Aag/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS33619.1	4	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAATGAAGAAA	NONE	.	.	hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167	.	.	ENSP00000325785	.	3/17	.	.	.	.	.	.	.	.	rs747863784	3/17	PASS	ENST00000314328	Transcript	.	.	ENSG00000100014	29022	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CYTSA_HUMAN	SPECC1L	HGNC	C9JLY8_HUMAN,C9J8U1_HUMAN	.	UPI00001B64E9	deletion	SPECC1L,frameshift_variant,p.Lys2ArgfsTer16,ENST00000541492,;SPECC1L,frameshift_variant,p.Lys2ArgfsTer16,ENST00000314328,;SPECC1L,frameshift_variant,p.Lys2ArgfsTer16,ENST00000421374,;SPECC1L,frameshift_variant,p.Lys2ArgfsTer16,ENST00000437398,;SPECC1L,upstream_gene_variant,,ENST00000440893,;SPECC1L,non_coding_transcript_exon_variant,,ENST00000416735,;SPECC1L-ADORA2A,frameshift_variant,p.Lys2ArgfsTer16,ENST00000358654,;	289	132	273	SUCCESS
DEPDC5	9681	.	GRCh37	22	32150896	32150896	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	78	0	ENST00000400246.1:c.-12A>C		p.*4*	ENST00000400246				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46692.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAAAACAG	NONE	.	.	.	.	.	ENSP00000371546	.	1/42	.	.	.	.	.	.	.	.	.	1/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,5_prime_UTR_variant,,ENST00000437411,;DEPDC5,5_prime_UTR_variant,,ENST00000266091,;DEPDC5,5_prime_UTR_variant,,ENST00000400248,;DEPDC5,5_prime_UTR_variant,,ENST00000400242,;DEPDC5,5_prime_UTR_variant,,ENST00000400249,;DEPDC5,5_prime_UTR_variant,,ENST00000382105,;DEPDC5,5_prime_UTR_variant,,ENST00000382112,;DEPDC5,5_prime_UTR_variant,,ENST00000400246,;DEPDC5,5_prime_UTR_variant,,ENST00000382111,;DEPDC5,5_prime_UTR_variant,,ENST00000535622,;DEPDC5,5_prime_UTR_variant,,ENST00000536766,;PRR14L,upstream_gene_variant,,ENST00000397493,;PRR14L,upstream_gene_variant,,ENST00000412743,;PRR14L,upstream_gene_variant,,ENST00000434485,;PRR14L,upstream_gene_variant,,ENST00000327423,;RN7SL20P,upstream_gene_variant,,ENST00000488827,;PRR14L,upstream_gene_variant,,ENST00000461722,;DEPDC5,5_prime_UTR_variant,,ENST00000456178,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000469969,;	59	78	95	SUCCESS
TRIOBP	11078	.	GRCh37	22	38120263	38120263	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	23	197	0	ENST00000406386.3:c.1700C>G	p.Pro567Arg	p.P567R	ENST00000406386	NM_001039141.2	567	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS43015.1	1700	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCCAATA	NONE	.	.	.	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Pro567Arg,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	1955	197	239	SUCCESS
RANBP2	5903	.	GRCh37	2	109383255	109383255	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	31	0	ENST00000283195.6:c.6260A>G	p.His2087Arg	p.H2087R	ENST00000283195	NM_006267.4	2087	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2079.1	6260	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAATCATTGGA	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.His2087Arg,ENST00000283195,;	6386	31	51	SUCCESS
SLC20A1	6574	.	GRCh37	2	113404719	113404719	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	6	104	0	ENST00000272542.3:c.314G>A	p.Gly105Asp	p.G105D	ENST00000272542	NM_005415.4	105	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS2099.1	314	MUTECT|MUSE	.	GGCCGGCTCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11101:SF46,hmmpanther:PTHR11101,Pfam_domain:PF01384	.	.	ENSP00000272542	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000272542	Transcript	.	.	ENSG00000144136	10946	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	S20A1_HUMAN	SLC20A1	HGNC	A7LNJ1_HUMAN	.	UPI0000071362	SNV	SLC20A1,missense_variant,p.Gly105Asp,ENST00000272542,;SLC20A1,upstream_gene_variant,,ENST00000423633,;SLC20A1,upstream_gene_variant,,ENST00000433924,;AC079922.3,upstream_gene_variant,,ENST00000457336,;SLC20A1,upstream_gene_variant,,ENST00000480984,;SLC20A1,upstream_gene_variant,,ENST00000413135,;SLC20A1,upstream_gene_variant,,ENST00000498224,;SLC20A1,upstream_gene_variant,,ENST00000456264,;	853	104	111	SUCCESS
ORC4	5000	.	GRCh37	2	148715877	148715877	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	55	0	ENST00000264169.2:c.377A>G	p.Asp126Gly	p.D126G	ENST00000264169	NM_181742.3	126	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2187.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATCTCCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,PIRSF_domain:PIRSF007858,Pfam_domain:PF13191,Gene3D:3.40.50.300,hmmpanther:PTHR12087,hmmpanther:PTHR12087:SF0	.	.	ENSP00000376597	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000392857	Transcript	.	.	ENSG00000115947	8490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	tolerated(0.38)	.	ORC4_HUMAN	ORC4	HGNC	Q96B14_HUMAN,Q53TH5_HUMAN,Q53SE3_HUMAN,C9JGH7_HUMAN,C9J2X8_HUMAN,B7Z632_HUMAN	.	UPI000013D4D3	SNV	ORC4,missense_variant,p.Asp126Gly,ENST00000392858,;ORC4,missense_variant,p.Asp126Gly,ENST00000457954,;ORC4,missense_variant,p.Asp126Gly,ENST00000416719,;ORC4,missense_variant,p.Asp126Gly,ENST00000392857,;ORC4,missense_variant,p.Asp42Gly,ENST00000536575,;ORC4,missense_variant,p.Asp126Gly,ENST00000440042,;ORC4,missense_variant,p.Asp52Gly,ENST00000540442,;ORC4,missense_variant,p.Asp126Gly,ENST00000535373,;ORC4,missense_variant,p.Asp126Gly,ENST00000264169,;ORC4,5_prime_UTR_variant,,ENST00000542387,;ORC4,non_coding_transcript_exon_variant,,ENST00000496670,;ORC4,non_coding_transcript_exon_variant,,ENST00000461711,;ORC4,non_coding_transcript_exon_variant,,ENST00000490200,;ORC4,non_coding_transcript_exon_variant,,ENST00000478904,;ORC4,downstream_gene_variant,,ENST00000495601,;	485	55	116	SUCCESS
EPC2	26122	.	GRCh37	2	149528862	149528862	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	48	145	0	ENST00000258484.6:c.1626A>T	p.Glu542Asp	p.E542D	ENST00000258484	NM_015630.3	542	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS46422.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAATGTAC	NONE	.	.	hmmpanther:PTHR14898:SF1,hmmpanther:PTHR14898	.	.	ENSP00000258484	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000258484	Transcript	.	.	ENSG00000135999	24543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	EPC2_HUMAN	EPC2	HGNC	Q53SN6_HUMAN,Q53SL1_HUMAN,E7ETK1_HUMAN,C9J1X4_HUMAN	.	UPI00005A7FE2	SNV	EPC2,missense_variant,p.Glu542Asp,ENST00000258484,;	1660	145	227	SUCCESS
SCN9A	6335	.	GRCh37	2	167136943	167136943	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	65	0	ENST00000303354.6:c.2270T>G	p.Leu757Ter	p.L757*	ENST00000303354		757	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS46441.1	2234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTAAAACT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,stop_gained,p.Leu745Ter,ENST00000409672,;SCN9A,stop_gained,p.Leu757Ter,ENST00000375387,;SCN9A,stop_gained,p.Leu756Ter,ENST00000409435,;SCN9A,stop_gained,p.Leu757Ter,ENST00000303354,;SCN9A,downstream_gene_variant,,ENST00000452182,;SCN9A,downstream_gene_variant,,ENST00000454569,;AC010127.3,intron_variant,,ENST00000447809,;	2581	65	116	SUCCESS
NOSTRIN	115677	.	GRCh37	2	169721359	169721359	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1161662685	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	39	0	ENST00000317647.7:c.1400T>C	p.Ile467Thr	p.I467T	ENST00000317647	NM_001039724.3	467	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS54415.1	1571	RADIA|MUTECT|MUSE	.	GATTATACACG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR14167:SF22,hmmpanther:PTHR14167,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000394051	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000444448	Transcript	.	.	ENSG00000163072	20203	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.9)	.	deleterious(0.02)	.	NOSTN_HUMAN	NOSTRIN	HGNC	Q53TH8_HUMAN	.	UPI00001400FD	SNV	NOSTRIN,missense_variant,p.Ile524Thr,ENST00000444448,;NOSTRIN,missense_variant,p.Ile524Thr,ENST00000458381,;NOSTRIN,missense_variant,p.Ile439Thr,ENST00000397209,;NOSTRIN,missense_variant,p.Ile389Thr,ENST00000445023,;NOSTRIN,missense_variant,p.Ile389Thr,ENST00000397206,;NOSTRIN,missense_variant,p.Ile467Thr,ENST00000317647,;NOSTRIN,missense_variant,p.Ile439Thr,ENST00000421711,;SPC25,intron_variant,,ENST00000479309,;NOSTRIN,non_coding_transcript_exon_variant,,ENST00000472260,;NOSTRIN,downstream_gene_variant,,ENST00000495202,;	2047	39	67	SUCCESS
TLK1	9874	.	GRCh37	2	171974343	171974343	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	21	0	ENST00000431350.2:c.164T>A	p.Leu55Gln	p.L55Q	ENST00000431350		55	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2241.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCAGACTA	NONE	.	.	hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22	.	.	ENSP00000411099	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000431350	Transcript	.	.	ENSG00000198586	11841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0)	.	TLK1_HUMAN	TLK1	HGNC	Q53TF9_HUMAN,Q53TE4_HUMAN	.	UPI0000073255	SNV	TLK1,missense_variant,p.Leu7Gln,ENST00000521943,;TLK1,missense_variant,p.Leu55Gln,ENST00000431350,;TLK1,missense_variant,p.Leu7Gln,ENST00000442919,;TLK1,missense_variant,p.Leu55Gln,ENST00000360843,;TLK1,non_coding_transcript_exon_variant,,ENST00000466220,;TLK1,non_coding_transcript_exon_variant,,ENST00000470340,;TLK1,non_coding_transcript_exon_variant,,ENST00000413010,;TLK1,missense_variant,p.Leu55Gln,ENST00000409443,;TLK1,missense_variant,p.Leu55Gln,ENST00000359766,;	569	21	40	SUCCESS
TTN	7273	.	GRCh37	2	179583266	179583266	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	60	0	ENST00000591111.1:c.23616T>C	p.Val7872=	p.V7872=	ENST00000591111		7872	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS59435.1	24567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGAACTAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	85/363	.	.	.	.	.	.	.	.	.	85/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000592630,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;TTN-AS1,downstream_gene_variant,,ENST00000589830,;	24792	60	112	SUCCESS
NBEAL1	65065	.	GRCh37	2	203996708	203996708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	59	85	0	ENST00000449802.1:c.3490A>G	p.Met1164Val	p.M1164V	ENST00000449802	NM_001114132.1	1164	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS46495.1	3490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAATGTTG	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743	.	.	ENSP00000399903	.	25/55	.	.	.	.	.	.	.	.	.	25/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.12)	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,missense_variant,p.Met1164Val,ENST00000449802,;	3823	85	204	SUCCESS
MAP2	4133	.	GRCh37	2	210569340	210569340	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	278	29	182	0	ENST00000360351.4:c.4585-964A>G		p.*1529*	ENST00000360351	NM_002374.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2384.1	.	MUTECT|MUSE|VARSCANS	.	AGGGAACAAGG	NONE	.	.	.	.	.	ENSP00000353508	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODIFIER	10/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Asn228Ser,ENST00000199940,;MAP2,missense_variant,p.Asn170Ser,ENST00000452717,;MAP2,intron_variant,,ENST00000447185,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000360351,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000475600,;MAP2,intron_variant,,ENST00000471619,;MAP2,upstream_gene_variant,,ENST00000464007,;MAP2,upstream_gene_variant,,ENST00000478233,;	.	182	307	SUCCESS
CHPF	79586	.	GRCh37	2	220406657	220406657	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	90	0	ENST00000243776.6:c.569A>G	p.Asp190Gly	p.D190G	ENST00000243776	NM_024536.5	190	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2443.1	569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCGTCGCCG	NONE	.	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369	.	.	ENSP00000243776	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.4)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Asp190Gly,ENST00000243776,;CHPF,missense_variant,p.Asp190Gly,ENST00000373891,;CHPF,missense_variant,p.Asp28Gly,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	818	90	94	SUCCESS
SH3YL1	26751	.	GRCh37	2	231165	231165	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	38	0	ENST00000356150.5:c.560A>G	p.Tyr187Cys	p.Y187C	ENST00000356150	NM_015677.2	187	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS42646.2	560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATAAGCT	NONE	.	.	hmmpanther:PTHR15629,Pfam_domain:PF04366	.	.	ENSP00000348471	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000356150	Transcript	.	.	ENSG00000035115	29546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.17)	.	SH3Y1_HUMAN	SH3YL1	HGNC	C9J4Z8_HUMAN	.	UPI0000072FAE	SNV	SH3YL1,missense_variant,p.Tyr119Cys,ENST00000451005,;SH3YL1,missense_variant,p.Tyr91Cys,ENST00000403657,;SH3YL1,missense_variant,p.Tyr91Cys,ENST00000415006,;SH3YL1,missense_variant,p.Tyr187Cys,ENST00000405430,;SH3YL1,missense_variant,p.Tyr34Cys,ENST00000481932,;SH3YL1,missense_variant,p.Tyr187Cys,ENST00000356150,;SH3YL1,missense_variant,p.Tyr143Cys,ENST00000431160,;SH3YL1,missense_variant,p.Tyr187Cys,ENST00000403712,;SH3YL1,missense_variant,p.Tyr91Cys,ENST00000403658,;SH3YL1,downstream_gene_variant,,ENST00000454318,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000488044,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000468321,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000463865,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000473104,;SH3YL1,downstream_gene_variant,,ENST00000475027,;SH3YL1,downstream_gene_variant,,ENST00000488979,;SH3YL1,upstream_gene_variant,,ENST00000472012,;SH3YL1,missense_variant,p.Tyr91Cys,ENST00000479739,;SH3YL1,non_coding_transcript_exon_variant,,ENST00000471948,;SH3YL1,downstream_gene_variant,,ENST00000497051,;	641	38	88	SUCCESS
AC109828.1	0	.	GRCh37	2	27560308	27560308	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	50	0	ENST00000416453.2:n.479G>T		p.*160*	ENST00000416453				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTGTCACC	NONE	.	.	.	.	.	ENSP00000352536	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359541	Transcript	.	.	ENSG00000115207	4665	.	.	MODIFIER	6/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C2_HUMAN	GTF3C2	HGNC	Q53SY8_HUMAN,Q53QN0_HUMAN,C9JQ12_HUMAN,C9JNH7_HUMAN	.	UPI0000074025	SNV	GTF3C2,intron_variant,,ENST00000359541,;GTF3C2,intron_variant,,ENST00000264720,;GTF3C2,upstream_gene_variant,,ENST00000454704,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000416453,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000585326,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000590754,;AC109828.1,non_coding_transcript_exon_variant,,ENST00000592265,;AC109828.1,intron_variant,,ENST00000589853,;AC109828.1,intron_variant,,ENST00000585645,;AC109828.1,intron_variant,,ENST00000588707,;AC109828.1,intron_variant,,ENST00000587586,;AC109828.1,intron_variant,,ENST00000589232,;AC109828.1,intron_variant,,ENST00000590383,;AC109828.1,downstream_gene_variant,,ENST00000608473,;GTF3C2,intron_variant,,ENST00000480989,;GTF3C2,upstream_gene_variant,,ENST00000470115,;GTF3C2,upstream_gene_variant,,ENST00000493511,;	.	50	91	SUCCESS
PPM1G	5496	.	GRCh37	2	27606940	27606940	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	37	0	ENST00000344034.4:c.845A>T	p.Asp282Val	p.D282V	ENST00000344034	NM_177983.2	282	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS1752.1	845	MUTECT|MUSE|VARSCANS	.	AGCCATCCTCT	BUFFER|p.D282N|c.844G>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13832,SMART_domains:SM00332	.	.	ENSP00000342778	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000344034	Transcript	.	.	ENSG00000115241	9278	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.942)	.	deleterious(0.01)	.	PPM1G_HUMAN	PPM1G	HGNC	Q96IN7_HUMAN,Q6IAU5_HUMAN,B4DDC8_HUMAN	.	UPI000000106E	SNV	PPM1G,missense_variant,p.Asp282Val,ENST00000350803,;PPM1G,missense_variant,p.Asp282Val,ENST00000344034,;ZNF513,upstream_gene_variant,,ENST00000436006,;ZNF513,upstream_gene_variant,,ENST00000323703,;ZNF513,upstream_gene_variant,,ENST00000407879,;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,downstream_gene_variant,,ENST00000484925,;	1110	37	52	SUCCESS
IFT172	26160	.	GRCh37	2	27668656	27668656	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	30	88	0	ENST00000260570.3:c.4870G>T	p.Asp1624Tyr	p.D1624Y	ENST00000260570	NM_015662.1	1624	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS1755.1	4870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCTGTAT	NONE	.	.	hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	.	.	ENSP00000260570	.	45/48	.	.	.	.	.	.	.	.	.	45/48	PASS	ENST00000260570	Transcript	.	.	ENSG00000138002	30391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	IF172_HUMAN	IFT172	HGNC	H7C161_HUMAN	.	UPI0000353ABB	SNV	IFT172,missense_variant,p.Asp1624Tyr,ENST00000260570,;KRTCAP3,intron_variant,,ENST00000543753,;KRTCAP3,intron_variant,,ENST00000452499,;NRBP1,downstream_gene_variant,,ENST00000233557,;KRTCAP3,downstream_gene_variant,,ENST00000407293,;KRTCAP3,downstream_gene_variant,,ENST00000288873,;NRBP1,downstream_gene_variant,,ENST00000379863,;NRBP1,downstream_gene_variant,,ENST00000379852,;IFT172,missense_variant,p.Asp148Tyr,ENST00000420854,;IFT172,3_prime_UTR_variant,,ENST00000509128,;IFT172,non_coding_transcript_exon_variant,,ENST00000494163,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,intron_variant,,ENST00000479419,;IFT172,downstream_gene_variant,,ENST00000450564,;NRBP1,downstream_gene_variant,,ENST00000460499,;NRBP1,downstream_gene_variant,,ENST00000486701,;KRTCAP3,downstream_gene_variant,,ENST00000453171,;KRTCAP3,downstream_gene_variant,,ENST00000464699,;IFT172,downstream_gene_variant,,ENST00000480892,;KRTCAP3,downstream_gene_variant,,ENST00000494572,;	4974	88	104	SUCCESS
FAM179A	0	.	GRCh37	2	29237345	29237345	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757275245	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	63	0	ENST00000379558.4:c.962C>T	p.Thr321Met	p.T321M	ENST00000379558	NM_199280.2	321	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS1769.2	962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACGCTGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567	.	.	ENSP00000368876	.	8/20	.	.	.	.	.	.	.	.	rs757275245	8/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.25)	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,missense_variant,p.Thr321Met,ENST00000403861,;FAM179A,missense_variant,p.Thr321Met,ENST00000379558,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,upstream_gene_variant,,ENST00000440012,;FAM179A,non_coding_transcript_exon_variant,,ENST00000465300,;	1313	63	58	SUCCESS
SPTBN1	6711	.	GRCh37	2	54870184	54870184	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1393785368	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	27	107	0	ENST00000356805.4:c.3923A>G	p.Asn1308Ser	p.N1308S	ENST00000356805	NM_003128.2	1308	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33198.1	3923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAATCTGC	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	19/36	.	.	.	.	.	.	.	.	.	19/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.09)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Asn1295Ser,ENST00000333896,;SPTBN1,missense_variant,p.Asn1308Ser,ENST00000356805,;	4204	107	145	SUCCESS
EML6	400954	.	GRCh37	2	55191747	55191747	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	74	0	ENST00000356458.6:c.5371G>A	p.Glu1791Lys	p.E1791K	ENST00000356458	NM_001039753.2	1791	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46286.1	5371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGAACAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF8,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000348842	.	37/41	.	.	.	.	.	.	.	.	.	37/41	PASS	ENST00000356458	Transcript	.	.	ENSG00000214595	35412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	deleterious(0.01)	.	EMAL6_HUMAN	EML6	HGNC	.	.	UPI00006C0432	SNV	EML6,missense_variant,p.Glu1791Lys,ENST00000356458,;EML6,non_coding_transcript_exon_variant,,ENST00000472965,;EML6,non_coding_transcript_exon_variant,,ENST00000490828,;EML6,downstream_gene_variant,,ENST00000481376,;EML6,upstream_gene_variant,,ENST00000488611,;	5891	75	102	SUCCESS
UGP2	7360	.	GRCh37	2	64118290	64118290	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	61	0	ENST00000337130.5:c.1456A>C	p.Ile486Leu	p.I486L	ENST00000337130	NM_006759.3	486	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS1875.1	1456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAATTGAT	NONE	.	.	PIRSF_domain:PIRSF000806,hmmpanther:PTHR11952:SF1,hmmpanther:PTHR11952	.	.	ENSP00000338703	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000337130	Transcript	.	.	ENSG00000169764	12527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.12)	.	UGPA_HUMAN	UGP2	HGNC	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN	.	UPI000000DB95	SNV	UGP2,missense_variant,p.Ile475Leu,ENST00000394417,;UGP2,missense_variant,p.Ile475Leu,ENST00000467648,;UGP2,missense_variant,p.Ile495Leu,ENST00000445915,;UGP2,missense_variant,p.Ile486Leu,ENST00000337130,;VPS54,downstream_gene_variant,,ENST00000354504,;VPS54,downstream_gene_variant,,ENST00000272322,;VPS54,downstream_gene_variant,,ENST00000409558,;UGP2,downstream_gene_variant,,ENST00000487469,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;VPS54,downstream_gene_variant,,ENST00000416400,;	1932	61	99	SUCCESS
CEP68	23177	.	GRCh37	2	65299207	65299207	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	26	0	ENST00000377990.2:c.977A>T	p.Asp326Val	p.D326V	ENST00000377990	NM_015147.2	326	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS1880.2	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGACCCTG	NONE	.	.	hmmpanther:PTHR14514	.	.	ENSP00000367229	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000377990	Transcript	.	.	ENSG00000011523	29076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.805)	.	deleterious(0)	.	CEP68_HUMAN	CEP68	HGNC	Q53RN6_HUMAN	.	UPI0000505465	SNV	CEP68,missense_variant,p.Asp326Val,ENST00000260569,;CEP68,missense_variant,p.Asp326Val,ENST00000546106,;CEP68,missense_variant,p.Asp326Val,ENST00000377990,;CEP68,5_prime_UTR_variant,,ENST00000537589,;CEP68,non_coding_transcript_exon_variant,,ENST00000497039,;RAB1A,intron_variant,,ENST00000494188,;CEP68,downstream_gene_variant,,ENST00000475851,;	1180	26	36	SUCCESS
LOXL3	84695	.	GRCh37	2	74761507	74761507	+	synonymous_variant	Silent	SNP	A	A	G	rs751033818	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	64	0	ENST00000264094.3:c.1875T>C	p.Asn625=	p.N625=	ENST00000264094	NM_032603.2	625	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS1953.1	1875	RADIA|MUTECT|MUSE	.	GTGCCATTTGG	NONE	.	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF11,Pfam_domain:PF01186,Prints_domain:PR00074	.	.	ENSP00000264094	.	11/14	.	.	.	.	.	.	.	.	rs751033818	11/14	PASS	ENST00000264094	Transcript	.	.	ENSG00000115318	13869	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LOXL3_HUMAN	LOXL3	HGNC	Q8N505_HUMAN,Q53TY1_HUMAN,Q2EHP2_HUMAN,C9J5M1_HUMAN	.	UPI0000044959	SNV	LOXL3,synonymous_variant,p.%3D,ENST00000409986,;LOXL3,synonymous_variant,p.%3D,ENST00000264094,;LOXL3,synonymous_variant,p.%3D,ENST00000409549,;LOXL3,synonymous_variant,p.%3D,ENST00000393937,;LOXL3,intron_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000413469,;LOXL3,downstream_gene_variant,,ENST00000420535,;HTRA2,downstream_gene_variant,,ENST00000352222,;HTRA2,downstream_gene_variant,,ENST00000258080,;HTRA2,downstream_gene_variant,,ENST00000437202,;AUP1,upstream_gene_variant,,ENST00000377526,;HTRA2,downstream_gene_variant,,ENST00000462909,;HTRA2,downstream_gene_variant,,ENST00000484881,;HTRA2,downstream_gene_variant,,ENST00000467961,;LOXL3,downstream_gene_variant,,ENST00000481835,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000463900,;HTRA2,downstream_gene_variant,,ENST00000484352,;HTRA2,downstream_gene_variant,,ENST00000465521,;HTRA2,downstream_gene_variant,,ENST00000482205,;HTRA2,downstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000472800,;	1947	64	104	SUCCESS
FUNDC2P2	388965	.	GRCh37	2	84517967	84517967	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	98	1	ENST00000538499.1:n.162T>A		p.*54*	ENST00000538499				0	.	.	.	.	.	A	.	transcribed_processed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACTTTGAG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000538499	Transcript	.	.	ENSG00000182814	17247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FUNDC2P2	HGNC	.	.	.	SNV	FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000331369,;FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000538499,;FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000443452,;	162	99	86	SUCCESS
DNAH6	1768	.	GRCh37	2	84896476	84896476	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	30	89	0	ENST00000237449.6:c.6148T>A	p.Trp2050Arg	p.W2050R	ENST00000237449		2050	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS46348.1	6148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCTGGGAA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676	.	.	ENSP00000374045	.	38/77	.	.	.	.	.	.	.	.	.	38/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Trp71Arg,ENST00000602588,;DNAH6,missense_variant,p.Trp2050Arg,ENST00000237449,;DNAH6,missense_variant,p.Trp2050Arg,ENST00000398278,;DNAH6,missense_variant,p.Trp2050Arg,ENST00000389394,;	6285	89	121	SUCCESS
TMEM127	55654	.	GRCh37	2	96930988	96930988	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	615	250	845	0	ENST00000258439.3:c.132G>A	p.Leu44=	p.L44=	ENST00000258439	NM_001193304.2	44	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2018.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACAGCGC	NONE	.	.	.	.	.	ENSP00000258439	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000258439	Transcript	.	.	ENSG00000135956	26038	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM127_HUMAN	TMEM127	HGNC	C9J4H2_HUMAN	.	UPI000000D96F	SNV	TMEM127,synonymous_variant,p.%3D,ENST00000258439,;TMEM127,synonymous_variant,p.%3D,ENST00000432959,;TMEM127,upstream_gene_variant,,ENST00000435268,;CIAO1,upstream_gene_variant,,ENST00000488633,;CIAO1,upstream_gene_variant,,ENST00000469320,;CIAO1,upstream_gene_variant,,ENST00000272402,;CIAO1,upstream_gene_variant,,ENST00000491394,;	389	845	865	SUCCESS
FANCD2	2177	.	GRCh37	3	10084812	10084812	+	synonymous_variant	Silent	SNP	T	T	C	rs370641659	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	72	0	ENST00000383807.1:c.967T>C	p.Leu323=	p.L323=	ENST00000383807	NM_001018115.1	323	Ttg/Ctg	0	.	G:0	.	G:0	.	C	L	protein_coding	YES	CCDS2595.1	967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTTGAAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	G:0	.	ENSP00000287647	G:0	12/43	.	.	.	.	.	.	.	.	rs370641659	12/43	PASS	ENST00000287647	Transcript	.	G:0.0002	ENSG00000144554	3585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,synonymous_variant,p.%3D,ENST00000419585,;FANCD2,synonymous_variant,p.%3D,ENST00000383806,;FANCD2,synonymous_variant,p.%3D,ENST00000383807,;FANCD2,synonymous_variant,p.%3D,ENST00000287647,;FANCD2,downstream_gene_variant,,ENST00000431693,;FANCD2,upstream_gene_variant,,ENST00000483276,;FANCD2,downstream_gene_variant,,ENST00000438741,;FANCD2,upstream_gene_variant,,ENST00000464934,;	1060	72	82	SUCCESS
COPG1	22820	.	GRCh37	3	128969533	128969533	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs369091902	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	35	0	ENST00000314797.6:c.46T>C	p.Ser16Pro	p.S16P	ENST00000314797	NM_016128.3	16	Tcc/Ccc	0	C:0.0002	.	.	.	.	C	S/P	protein_coding	YES	CCDS33851.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTCCAAC	NONE	byCluster	.	PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	C:0	ENSP00000325002	.	2/24	.	.	.	.	.	.	.	.	rs369091902	2/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	tolerated(0.17)	.	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,missense_variant,p.Ser16Pro,ENST00000314797,;COPG1,missense_variant,p.Ser16Pro,ENST00000504350,;COPG1,non_coding_transcript_exon_variant,,ENST00000513965,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,upstream_gene_variant,,ENST00000509208,;	150	35	64	SUCCESS
COL6A6	131873	.	GRCh37	3	130285970	130285970	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	97	0	ENST00000358511.6:c.1707T>C	p.Ala569=	p.A569=	ENST00000358511	NM_001102608.1	569	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46911.1	1707	MUTECT|MUSE	.	TATGCTATCGG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,synonymous_variant,p.%3D,ENST00000453409,;COL6A6,synonymous_variant,p.%3D,ENST00000358511,;	1738	97	148	SUCCESS
TRIM42	287015	.	GRCh37	3	140401678	140401678	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	50	0	ENST00000286349.3:c.716A>T	p.Gln239Leu	p.Q239L	ENST00000286349	NM_152616.4	239	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS3113.1	716	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCAGGTCT	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,SMART_domains:SM00336	.	.	ENSP00000286349	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,missense_variant,p.Gln239Leu,ENST00000286349,;	907	50	52	SUCCESS
TSC22D2	9819	.	GRCh37	3	150127758	150127758	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	57	0	ENST00000361875.3:c.621T>G	p.Thr207=	p.T207=	ENST00000361875	NM_014779.2	207	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS3149.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACTTTTGA	NONE	.	.	hmmpanther:PTHR12348:SF19,hmmpanther:PTHR12348	.	.	ENSP00000354543	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000361875	Transcript	.	.	ENSG00000196428	29095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T22D2_HUMAN	TSC22D2	HGNC	.	.	UPI00000722E0	SNV	TSC22D2,synonymous_variant,p.%3D,ENST00000361875,;TSC22D2,synonymous_variant,p.%3D,ENST00000361136,;TSC22D2,upstream_gene_variant,,ENST00000466814,;TSC22D2,upstream_gene_variant,,ENST00000480589,;TSC22D2,upstream_gene_variant,,ENST00000485421,;	1637	57	80	SUCCESS
SERP1	27230	.	GRCh37	3	150262283	150262283	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	69	193	0	ENST00000239944.2:c.163A>G	p.Ile55Val	p.I55V	ENST00000239944	NM_014445.3	55	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3150.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF06624,hmmpanther:PTHR15601,hmmpanther:PTHR15601:SF2	.	.	ENSP00000420076	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000479209	Transcript	.	.	ENSG00000120742	10759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.54)	.	SERP1_HUMAN	SERP1	HGNC	.	.	UPI0000022CDB	SNV	SERP1,missense_variant,p.Ile55Val,ENST00000239944,;SERP1,missense_variant,p.Ile55Val,ENST00000479209,;SERP1,synonymous_variant,p.%3D,ENST00000487153,;EIF2A,upstream_gene_variant,,ENST00000460851,;EIF2A,upstream_gene_variant,,ENST00000406576,;EIF2A,upstream_gene_variant,,ENST00000482093,;EIF2A,upstream_gene_variant,,ENST00000487799,;SERP1,downstream_gene_variant,,ENST00000491660,;EIF2A,upstream_gene_variant,,ENST00000273435,;SERP1,downstream_gene_variant,,ENST00000491195,;EIF2A,upstream_gene_variant,,ENST00000474505,;EIF2A,upstream_gene_variant,,ENST00000462221,;EIF2A,upstream_gene_variant,,ENST00000469331,;EIF2A,upstream_gene_variant,,ENST00000473499,;EIF2A,upstream_gene_variant,,ENST00000463863,;EIF2A,upstream_gene_variant,,ENST00000494558,;EIF2A,upstream_gene_variant,,ENST00000490505,;	1436	193	267	SUCCESS
DHX36	170506	.	GRCh37	3	154022720	154022720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	10	140	0	ENST00000496811.1:c.1010A>G	p.His337Arg	p.H337R	ENST00000496811	NM_020865.2	337	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3171.1	1010	MUTECT|MUSE	.	TTTCATGGATT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF00270,Gene3D:3.40.50.300,PROSITE_patterns:PS00690,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF100,PROSITE_profiles:PS51192	.	.	ENSP00000417078	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000496811	Transcript	.	.	ENSG00000174953	14410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHX36_HUMAN	DHX36	HGNC	E7EWK3_HUMAN	.	UPI000013ED25	SNV	DHX36,missense_variant,p.His251Arg,ENST00000481941,;DHX36,missense_variant,p.His337Arg,ENST00000496811,;DHX36,missense_variant,p.His337Arg,ENST00000544526,;DHX36,missense_variant,p.His337Arg,ENST00000308361,;DHX36,missense_variant,p.His337Arg,ENST00000329463,;DHX36,non_coding_transcript_exon_variant,,ENST00000460875,;DHX36,downstream_gene_variant,,ENST00000462464,;	1091	140	235	SUCCESS
TIPARP	25976	.	GRCh37	3	156422478	156422478	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	61	110	0	ENST00000295924.7:c.1532A>C	p.Lys511Thr	p.K511T	ENST00000295924	NM_015508.4	511	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS3177.1	1532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAAGGAAT	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF13,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	.	.	ENSP00000420612	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000461166	Transcript	.	.	ENSG00000163659	23696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	PARPT_HUMAN	TIPARP	HGNC	G5E9W1_HUMAN,C9JXM5_HUMAN	.	UPI000004FA31	SNV	TIPARP,missense_variant,p.Lys511Thr,ENST00000461166,;TIPARP,missense_variant,p.Lys511Thr,ENST00000481853,;TIPARP,missense_variant,p.Lys511Thr,ENST00000295924,;TIPARP,missense_variant,p.Lys214Thr,ENST00000495891,;TIPARP,missense_variant,p.Lys511Thr,ENST00000486483,;TIPARP,missense_variant,p.Lys511Thr,ENST00000542783,;TIPARP,downstream_gene_variant,,ENST00000473702,;	2120	111	223	SUCCESS
IFT80	57560	.	GRCh37	3	160099508	160099508	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	8	68	0	ENST00000326448.7:c.42A>C	p.Gln14His	p.Q14H	ENST00000326448	NM_020800.2	14	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS3188.1	42	MUTECT|MUSE	.	AATTCTTGATG	NONE	.	.	hmmpanther:PTHR24098:SF8,hmmpanther:PTHR24098,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000312778	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000326448	Transcript	.	.	ENSG00000068885	29262	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.101)	.	tolerated(0.14)	.	IFT80_HUMAN	IFT80	HGNC	C9JUJ1_HUMAN,C9JUI1_HUMAN,C9JSB1_HUMAN,C9J6I5_HUMAN,C9J6G8_HUMAN,C9J627_HUMAN,C9IZR2_HUMAN	.	UPI0000160F16	SNV	IFT80,splice_acceptor_variant,,ENST00000483465,;IFT80,splice_acceptor_variant,,ENST00000496589,;IFT80,missense_variant,p.Gln14His,ENST00000326448,;IFT80,missense_variant,p.Gln14His,ENST00000489004,;IFT80,missense_variant,p.Gln14His,ENST00000478536,;IFT80,missense_variant,p.Gln14His,ENST00000498409,;IFT80,5_prime_UTR_variant,,ENST00000465537,;IFT80,intron_variant,,ENST00000468218,;IFT80,intron_variant,,ENST00000475677,;IFT80,intron_variant,,ENST00000478370,;IFT80,intron_variant,,ENST00000486856,;IFT80,splice_acceptor_variant,,ENST00000498145,;IFT80,splice_acceptor_variant,,ENST00000465972,;IFT80,non_coding_transcript_exon_variant,,ENST00000477495,;IFT80,non_coding_transcript_exon_variant,,ENST00000468327,;IFT80,non_coding_transcript_exon_variant,,ENST00000472773,;IFT80,intron_variant,,ENST00000478460,;IFT80,downstream_gene_variant,,ENST00000466326,;IFT80,splice_acceptor_variant,,ENST00000487943,;IFT80,missense_variant,p.Gln14His,ENST00000482317,;RP11-432B6.3,intron_variant,,ENST00000483754,;IFT80,upstream_gene_variant,,ENST00000484963,;IFT80,downstream_gene_variant,,ENST00000467254,;	475	68	108	SUCCESS
NLGN1	22871	.	GRCh37	3	173997093	173997094	+	inframe_insertion	In_Frame_Ins	INS	-	-	ACC	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	103	31	67	0	ENST00000457714.1:c.1304_1306dup	p.Thr435dup	p.T435dup	ENST00000457714	NM_014932.3	435	-/ACC	0	.	.	.	.	.	ACC	-/T	protein_coding	YES	CCDS3222.1	1302-1303	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGAAACCAT	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	insertion	NLGN1,inframe_insertion,p.Thr475dup,ENST00000401917,;NLGN1,inframe_insertion,p.Thr435dup,ENST00000457714,;NLGN1,inframe_insertion,p.Thr435dup,ENST00000361589,;NLGN1,inframe_insertion,p.Thr435dup,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;NLGN1,downstream_gene_variant,,ENST00000469727,;	1731-1732	67	134	SUCCESS
DVL3	1857	.	GRCh37	3	183884260	183884260	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1414366674	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	7	102	0	ENST00000313143.3:c.930G>C	p.Met310Ile	p.M310I	ENST00000313143	NM_004423.3	310	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS3253.1	930	MUTECT|MUSE	.	AACATGAGTAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10878:SF6,hmmpanther:PTHR10878,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000316054	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000313143	Transcript	.	.	ENSG00000161202	3087	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	DVL3_HUMAN	DVL3	HGNC	Q8WVA8_HUMAN,C9K0P9_HUMAN	.	UPI00001299A9	SNV	DVL3,missense_variant,p.Met310Ile,ENST00000313143,;DVL3,missense_variant,p.Met208Ile,ENST00000423300,;DVL3,missense_variant,p.Met310Ile,ENST00000431765,;EIF2B5,intron_variant,,ENST00000444495,;DVL3,downstream_gene_variant,,ENST00000462665,;DVL3,non_coding_transcript_exon_variant,,ENST00000478247,;DVL3,non_coding_transcript_exon_variant,,ENST00000478639,;DVL3,downstream_gene_variant,,ENST00000467873,;DVL3,downstream_gene_variant,,ENST00000435708,;	1178	102	150	SUCCESS
VPS8	23355	.	GRCh37	3	184642719	184642719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	38	0	ENST00000437079.3:c.2524C>T	p.Leu842Phe	p.L842F	ENST00000437079	NM_001009921.2	842	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46971.1	2524	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCTTGCA	NONE	.	.	hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19	.	.	ENSP00000397879	.	30/48	.	.	.	.	.	.	.	.	.	30/48	PASS	ENST00000437079	Transcript	.	.	ENSG00000156931	29122	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	deleterious(0.01)	.	VPS8_HUMAN	VPS8	HGNC	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN	.	UPI0000160BDC	SNV	VPS8,missense_variant,p.Leu750Phe,ENST00000446204,;VPS8,missense_variant,p.Leu840Phe,ENST00000436792,;VPS8,missense_variant,p.Leu842Phe,ENST00000437079,;VPS8,missense_variant,p.Leu842Phe,ENST00000287546,;VPS8,non_coding_transcript_exon_variant,,ENST00000463687,;VPS8,3_prime_UTR_variant,,ENST00000452140,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;	2695	38	60	SUCCESS
ADIPOQ	9370	.	GRCh37	3	186572334	186572334	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	24	72	0	ENST00000320741.2:c.576T>A	p.Asn192Lys	p.N192K	ENST00000320741	NM_004797.3	192	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS3284.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATAATGT	NONE	.	.	Superfamily_domains:SSF49842,SMART_domains:SM00110,Gene3D:2.60.120.40,Pfam_domain:PF00386,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF81,PROSITE_profiles:PS50871	.	.	ENSP00000405611	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000412955	Transcript	.	.	ENSG00000181092	13633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.76)	.	ADIPO_HUMAN	ADIPOQ	HGNC	A8K660_HUMAN	.	UPI0000034252	SNV	ADIPOQ,missense_variant,p.Asn192Lys,ENST00000412955,;ADIPOQ,missense_variant,p.Asn192Lys,ENST00000444204,;ADIPOQ,missense_variant,p.Asn192Lys,ENST00000320741,;ADIPOQ-AS1,non_coding_transcript_exon_variant,,ENST00000422718,;	717	72	103	SUCCESS
DLG1	1739	.	GRCh37	3	197009694	197009694	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	23	60	0	ENST00000419354.1:c.174G>A	p.Val58=	p.V58=	ENST00000419354		58	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3327.1	174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTCACTTC	NONE	.	.	PROSITE_profiles:PS51022,hmmpanther:PTHR23119,Pfam_domain:PF09058,SMART_domains:SM00569,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF101288	.	.	ENSP00000345731	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000346964	Transcript	.	.	ENSG00000075711	2900	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLG1_HUMAN	DLG1	HGNC	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN	.	UPI000013CD24	SNV	DLG1,synonymous_variant,p.%3D,ENST00000450955,;DLG1,synonymous_variant,p.%3D,ENST00000419553,;DLG1,synonymous_variant,p.%3D,ENST00000392382,;DLG1,synonymous_variant,p.%3D,ENST00000357674,;DLG1,synonymous_variant,p.%3D,ENST00000412364,;DLG1,synonymous_variant,p.%3D,ENST00000392380,;DLG1,synonymous_variant,p.%3D,ENST00000456699,;DLG1,synonymous_variant,p.%3D,ENST00000422288,;DLG1,synonymous_variant,p.%3D,ENST00000448528,;DLG1,synonymous_variant,p.%3D,ENST00000346964,;DLG1,synonymous_variant,p.%3D,ENST00000419354,;DLG1,synonymous_variant,p.%3D,ENST00000314062,;DLG1,synonymous_variant,p.%3D,ENST00000436682,;DLG1,non_coding_transcript_exon_variant,,ENST00000485409,;DLG1,synonymous_variant,p.%3D,ENST00000392381,;DLG1,synonymous_variant,p.%3D,ENST00000419227,;DLG1,non_coding_transcript_exon_variant,,ENST00000471733,;DLG1,non_coding_transcript_exon_variant,,ENST00000486877,;	364	60	98	SUCCESS
DLG1	1739	.	GRCh37	3	197023325	197023325	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	56	0	ENST00000419354.1:c.43T>G	p.Leu15Val	p.L15V	ENST00000419354		15	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS3327.1	43	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAAAAGGT	NONE	.	.	PROSITE_profiles:PS51022,hmmpanther:PTHR23119,Pfam_domain:PF09058,Gene3D:1.10.287.470,SMART_domains:SM00569,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF101288	.	.	ENSP00000345731	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000346964	Transcript	.	.	ENSG00000075711	2900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	deleterious(0)	.	DLG1_HUMAN	DLG1	HGNC	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN	.	UPI000013CD24	SNV	DLG1,missense_variant,p.Leu15Val,ENST00000450955,;DLG1,missense_variant,p.Leu15Val,ENST00000419553,;DLG1,missense_variant,p.Leu15Val,ENST00000392382,;DLG1,missense_variant,p.Leu15Val,ENST00000357674,;DLG1,missense_variant,p.Leu15Val,ENST00000412364,;DLG1,missense_variant,p.Leu15Val,ENST00000392380,;DLG1,missense_variant,p.Leu15Val,ENST00000434148,;DLG1,missense_variant,p.Leu15Val,ENST00000456699,;DLG1,missense_variant,p.Leu15Val,ENST00000422288,;DLG1,missense_variant,p.Leu15Val,ENST00000448528,;DLG1,missense_variant,p.Leu15Val,ENST00000346964,;DLG1,missense_variant,p.Leu15Val,ENST00000419354,;DLG1,missense_variant,p.Leu15Val,ENST00000314062,;DLG1,missense_variant,p.Leu15Val,ENST00000436682,;MIR4797,upstream_gene_variant,,ENST00000577559,;DLG1-AS1,upstream_gene_variant,,ENST00000414529,;DLG1-AS1,upstream_gene_variant,,ENST00000430666,;DLG1,non_coding_transcript_exon_variant,,ENST00000485409,;DLG1,missense_variant,p.Leu15Val,ENST00000392381,;DLG1,missense_variant,p.Leu15Val,ENST00000419227,;DLG1,non_coding_transcript_exon_variant,,ENST00000471733,;DLG1,non_coding_transcript_exon_variant,,ENST00000486877,;	233	56	74	SUCCESS
EOMES	8320	.	GRCh37	3	27763601	27763601	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	80	0	ENST00000295743.4:c.185A>T	p.Glu62Val	p.E62V	ENST00000295743	NM_005442.3	62	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2646.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCTCGCAG	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13,Low_complexity_(Seg):seg	.	.	ENSP00000295743	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000295743	Transcript	.	.	ENSG00000163508	3372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.03)	.	EOMES_HUMAN	EOMES	HGNC	.	.	UPI000013E29D	SNV	EOMES,missense_variant,p.Glu62Val,ENST00000449599,;EOMES,missense_variant,p.Glu62Val,ENST00000295743,;EOMES,intron_variant,,ENST00000537516,;EOMES,intron_variant,,ENST00000461503,;	389	80	53	SUCCESS
VIPR1	7433	.	GRCh37	3	42576555	42576555	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs947989658	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	64	0	ENST00000325123.4:c.1099G>A	p.Glu367Lys	p.E367K	ENST00000325123	NM_001251885.1	367	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2698.1	1099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGAAGTG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF31,hmmpanther:PTHR12011,Gene3D:1.20.1070.10,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR01154	.	.	ENSP00000327246	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000325123	Transcript	.	.	ENSG00000114812	12694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	tolerated(0.21)	.	VIPR1_HUMAN	VIPR1	HGNC	C9JH33_HUMAN	.	UPI000005045A	SNV	VIPR1,missense_variant,p.Glu367Lys,ENST00000325123,;VIPR1,missense_variant,p.Glu319Lys,ENST00000543411,;VIPR1,missense_variant,p.Glu157Lys,ENST00000438259,;VIPR1,missense_variant,p.Glu326Lys,ENST00000433647,;VIPR1,downstream_gene_variant,,ENST00000439731,;VIPR1-AS1,upstream_gene_variant,,ENST00000600342,;VIPR1-AS1,upstream_gene_variant,,ENST00000452639,;VIPR1-AS1,upstream_gene_variant,,ENST00000608869,;VIPR1-AS1,upstream_gene_variant,,ENST00000601312,;VIPR1-AS1,upstream_gene_variant,,ENST00000610022,;VIPR1-AS1,upstream_gene_variant,,ENST00000593621,;VIPR1-AS1,upstream_gene_variant,,ENST00000598837,;VIPR1-AS1,upstream_gene_variant,,ENST00000602176,;VIPR1-AS1,upstream_gene_variant,,ENST00000596630,;VIPR1-AS1,upstream_gene_variant,,ENST00000593611,;VIPR1,3_prime_UTR_variant,,ENST00000439910,;VIPR1,3_prime_UTR_variant,,ENST00000443646,;VIPR1,non_coding_transcript_exon_variant,,ENST00000498102,;VIPR1,downstream_gene_variant,,ENST00000436487,;VIPR1,downstream_gene_variant,,ENST00000446673,;VIPR1,downstream_gene_variant,,ENST00000465338,;VIPR1,downstream_gene_variant,,ENST00000495189,;	1212	64	72	SUCCESS
SLC25A20	788	.	GRCh37	3	48936249	48936249	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	41	175	0	ENST00000319017.4:c.-22C>T		p.*8*	ENST00000319017	NM_000387.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2779.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGTCTGT	NONE	.	.	.	.	.	ENSP00000326305	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000319017	Transcript	.	.	ENSG00000178537	1421	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCAT_HUMAN	SLC25A20	HGNC	B4DWZ5_HUMAN	.	UPI000012ED5E	SNV	SLC25A20,5_prime_UTR_variant,,ENST00000544097,;SLC25A20,5_prime_UTR_variant,,ENST00000319017,;SLC25A20,5_prime_UTR_variant,,ENST00000430379,;SLC25A20,5_prime_UTR_variant,,ENST00000440964,;	178	175	164	SUCCESS
CCDC71	64925	.	GRCh37	3	49200857	49200857	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	38	0	ENST00000321895.6:c.785C>G	p.Thr262Ser	p.T262S	ENST00000321895	NM_022903.3	262	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS2790.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGTGGCT	NONE	.	.	hmmpanther:PTHR14484:SF0,hmmpanther:PTHR14484,Pfam_domain:PF15374	.	.	ENSP00000319006	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321895	Transcript	.	.	ENSG00000177352	25760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.89)	.	CCD71_HUMAN	CCDC71	HGNC	.	.	UPI0000072BC0	SNV	CCDC71,missense_variant,p.Thr262Ser,ENST00000321895,;RP11-694I15.7,upstream_gene_variant,,ENST00000603877,;	892	38	51	SUCCESS
WDR82	80335	.	GRCh37	3	52304771	52304771	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	40	0	ENST00000296490.3:c.216T>A	p.Thr72=	p.T72=	ENST00000296490	NM_025222.3	72	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2851.2	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGAGTGTA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19861,hmmpanther:PTHR19861:SF2,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000296490	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000296490	Transcript	.	.	ENSG00000164091	28826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR82_HUMAN	WDR82	HGNC	C9JBU3_HUMAN,C9J355_HUMAN	.	UPI00000EBAC2	SNV	WDR82,synonymous_variant,p.%3D,ENST00000296490,;WDR82,5_prime_UTR_variant,,ENST00000463624,;WDR82,5_prime_UTR_variant,,ENST00000469000,;MIRLET7G,upstream_gene_variant,,ENST00000362280,;WDR82,upstream_gene_variant,,ENST00000487402,;	498	40	85	SUCCESS
DNAH1	25981	.	GRCh37	3	52430633	52430633	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	57	0	ENST00000420323.2:c.11431-1G>C		p.X3811_splice	ENST00000420323	NM_015512.4	3811		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46842.1	.	MUTECT|MUSE|VARSCANS	.	CCCCAGGTGAT	NONE	.	.	.	.	.	ENSP00000401514	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	HIGH	71/77	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,splice_acceptor_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000469613,;BAP1,downstream_gene_variant,,ENST00000296288,;DNAH1,downstream_gene_variant,,ENST00000480649,;BAP1,downstream_gene_variant,,ENST00000460680,;DNAH1,splice_acceptor_variant,,ENST00000486752,;DNAH1,splice_acceptor_variant,,ENST00000490713,;DNAH1,splice_acceptor_variant,,ENST00000488988,;DNAH1,downstream_gene_variant,,ENST00000487254,;	.	57	50	SUCCESS
LRIG1	26018	.	GRCh37	3	66431958	66431958	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	51	0	ENST00000273261.3:c.2715A>G	p.Lys905=	p.K905=	ENST00000273261	NM_015541.2	905	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS33783.1	2715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTTTGTG	NONE	.	.	hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367	.	.	ENSP00000273261	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,synonymous_variant,p.%3D,ENST00000383703,;LRIG1,synonymous_variant,p.%3D,ENST00000273261,;SLC25A26,intron_variant,,ENST00000536651,;SLC25A26,downstream_gene_variant,,ENST00000354883,;SLC25A26,downstream_gene_variant,,ENST00000413054,;SLC25A26,downstream_gene_variant,,ENST00000336733,;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,intron_variant,,ENST00000464350,;SLC25A26,downstream_gene_variant,,ENST00000483224,;	3240	51	63	SUCCESS
PPP4R2	151987	.	GRCh37	3	73113262	73113262	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	56	118	0	ENST00000356692.5:c.603G>A	p.Glu201=	p.E201=	ENST00000356692		201	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2917.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGGCAAA	NONE	.	.	hmmpanther:PTHR16487,hmmpanther:PTHR16487:SF0,Pfam_domain:PF09184	.	.	ENSP00000349124	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000356692	Transcript	.	.	ENSG00000163605	18296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP4R2_HUMAN	PPP4R2	HGNC	F8WDK3_HUMAN	.	UPI000006F837	SNV	PPP4R2,synonymous_variant,p.%3D,ENST00000460360,;PPP4R2,synonymous_variant,p.%3D,ENST00000488810,;PPP4R2,synonymous_variant,p.%3D,ENST00000356692,;PPP4R2,synonymous_variant,p.%3D,ENST00000394284,;PPP4R2,synonymous_variant,p.%3D,ENST00000295862,;EBLN2,downstream_gene_variant,,ENST00000533473,;PPP4R2,3_prime_UTR_variant,,ENST00000482242,;PPP4R2,downstream_gene_variant,,ENST00000470976,;	856	118	221	SUCCESS
FILIP1L	11259	.	GRCh37	3	99567920	99567920	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	74	0	ENST00000354552.3:c.2600A>C	p.Lys867Thr	p.K867T	ENST00000354552	NM_182909.2	867	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS43117.1	2600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATTTCATC	NONE	.	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4	.	.	ENSP00000346560	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000354552	Transcript	.	.	ENSG00000168386	24589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	deleterious(0.02)	.	FIL1L_HUMAN	FILIP1L	HGNC	C9JYJ6_HUMAN	.	UPI00001B24B2	SNV	FILIP1L,missense_variant,p.Lys443Thr,ENST00000487087,;FILIP1L,missense_variant,p.Lys867Thr,ENST00000354552,;FILIP1L,missense_variant,p.Lys867Thr,ENST00000331335,;FILIP1L,missense_variant,p.Lys627Thr,ENST00000383694,;FILIP1L,missense_variant,p.Lys627Thr,ENST00000471562,;FILIP1L,missense_variant,p.Lys627Thr,ENST00000495625,;CMSS1,intron_variant,,ENST00000421999,;CMSS1,intron_variant,,ENST00000463526,;FILIP1L,upstream_gene_variant,,ENST00000477258,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000496116,;CMSS1,intron_variant,,ENST00000491299,;	3071	74	100	SUCCESS
SLC39A8	64116	.	GRCh37	4	103236884	103236884	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	24	90	0	ENST00000356736.4:c.323T>G	p.Leu108Trp	p.L108W	ENST00000356736	NM_001135146.1	108	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS3656.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCAATTGC	NONE	.	.	hmmpanther:PTHR12191:SF2,hmmpanther:PTHR12191	.	.	ENSP00000378310	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000394833	Transcript	.	.	ENSG00000138821	20862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	S39A8_HUMAN	SLC39A8	HGNC	.	.	UPI0000046C4E	SNV	SLC39A8,missense_variant,p.Leu108Trp,ENST00000356736,;SLC39A8,missense_variant,p.Leu108Trp,ENST00000394833,;SLC39A8,missense_variant,p.Leu108Trp,ENST00000424970,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000512657,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000502903,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000514000,;SLC39A8,non_coding_transcript_exon_variant,,ENST00000510255,;	800	90	143	SUCCESS
CFI	3426	.	GRCh37	4	110687778	110687778	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	77	0	ENST00000394634.2:c.260A>C	p.Gln87Pro	p.Q87P	ENST00000394634	NM_000204.3	87	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34049.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTGACAG	NONE	.	.	Superfamily_domains:SSF100895,SMART_domains:SM00057,Gene3D:3.30.60.30,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF13,PROSITE_profiles:PS51465	.	.	ENSP00000378130	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,missense_variant,p.Gln87Pro,ENST00000394634,;CFI,missense_variant,p.Gln87Pro,ENST00000510800,;CFI,missense_variant,p.Gln87Pro,ENST00000512148,;CFI,missense_variant,p.Gln87Pro,ENST00000394635,;CFI,upstream_gene_variant,,ENST00000504853,;	468	77	94	SUCCESS
TBC1D9	23158	.	GRCh37	4	141543436	141543436	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	13	121	0	ENST00000442267.2:c.3714C>T	p.Ala1238=	p.A1238=	ENST00000442267	NM_015130.2	1238	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47136.1	3714	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTGGCCAT	NONE	.	.	.	.	.	ENSP00000411197	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,synonymous_variant,p.%3D,ENST00000442267,;	3789	121	117	SUCCESS
PALLD	23022	.	GRCh37	4	169835138	169835138	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	60	0	ENST00000505667.1:c.2683C>G	p.Pro895Ala	p.P895A	ENST00000505667		895	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS54818.1	2683	MUTECT|MUSE	.	GAAGTCCCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152	.	.	ENSP00000425556	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000505667	Transcript	1	.	ENSG00000129116	17068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.78)	.	tolerated(0.15)	.	PALLD_HUMAN	PALLD	HGNC	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN	.	UPI000189A85C	SNV	PALLD,missense_variant,p.Pro391Ala,ENST00000507735,;PALLD,missense_variant,p.Pro720Ala,ENST00000335742,;PALLD,missense_variant,p.Pro878Ala,ENST00000261509,;PALLD,missense_variant,p.Pro895Ala,ENST00000505667,;PALLD,missense_variant,p.Pro496Ala,ENST00000512127,;PALLD,downstream_gene_variant,,ENST00000393726,;CBR4,intron_variant,,ENST00000509108,;PALLD,non_coding_transcript_exon_variant,,ENST00000513187,;PALLD,non_coding_transcript_exon_variant,,ENST00000507699,;CBR4,intron_variant,,ENST00000510042,;	2856	60	100	SUCCESS
GLRA3	8001	.	GRCh37	4	175580328	175580328	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	48	0	ENST00000274093.3:c.948T>C	p.Ile316=	p.I316=	ENST00000274093	NM_006529.2	316	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS3822.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCAATAGC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF455,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000274093	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000274093	Transcript	.	.	ENSG00000145451	4328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLRA3_HUMAN	GLRA3	HGNC	Q9UPF3_HUMAN,Q4W595_HUMAN	.	UPI0000001C50	SNV	GLRA3,synonymous_variant,p.%3D,ENST00000274093,;GLRA3,synonymous_variant,p.%3D,ENST00000340217,;	1451	48	75	SUCCESS
TLR3	7098	.	GRCh37	4	186997921	186997921	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	73	0	ENST00000296795.3:c.148C>A	p.Pro50Thr	p.P50T	ENST00000296795	NM_003265.2	50	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3846.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACCCACA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000296795	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000296795	Transcript	1	.	ENSG00000164342	11849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TLR3_HUMAN	TLR3	HGNC	E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN	.	UPI0000049B3E	SNV	TLR3,missense_variant,p.Pro50Thr,ENST00000513189,;TLR3,missense_variant,p.Pro50Thr,ENST00000296795,;TLR3,upstream_gene_variant,,ENST00000504367,;TLR3,upstream_gene_variant,,ENST00000508051,;TLR3,upstream_gene_variant,,ENST00000512264,;	252	73	83	SUCCESS
TLR6	10333	.	GRCh37	4	38828947	38828947	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	6	72	0	ENST00000381950.1:c.2148C>A	p.Leu716=	p.L716=	ENST00000381950		716	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3446.1	2148	MUTECT|MUSE	.	AAATAGAGTTC	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,Pfam_domain:PF01582,Gene3D:3.40.50.10140,PIRSF_domain:PIRSF037595,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537	.	.	ENSP00000389600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000436693	Transcript	.	.	ENSG00000174130	16711	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TLR6_HUMAN	TLR6	HGNC	D6RAV7_HUMAN,D6R979_HUMAN	.	UPI000013EE02	SNV	TLR6,synonymous_variant,p.%3D,ENST00000381950,;TLR6,synonymous_variant,p.%3D,ENST00000436693,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	2268	72	130	SUCCESS
BEND4	389206	.	GRCh37	4	42119695	42119695	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1369985790	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	28	90	0	ENST00000502486.1:c.1445A>G	p.Gln482Arg	p.Q482R	ENST00000502486	NM_207406.3	482	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS47048.1	1445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTGCTCT	NONE	.	.	PROSITE_profiles:PS51457,Pfam_domain:PF10523,SMART_domains:SM01025	.	.	ENSP00000421169	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious_low_confidence(0)	.	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,missense_variant,p.Gln482Arg,ENST00000502486,;BEND4,3_prime_UTR_variant,,ENST00000504360,;	2025	90	129	SUCCESS
TXK	7294	.	GRCh37	4	48096195	48096195	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	31	0	ENST00000264316.4:c.608A>G	p.Tyr203Cys	p.Y203C	ENST00000264316	NM_003328.2	203	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3480.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATAATGT	NONE	.	.	Prints_domain:PR00401,Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159,PROSITE_profiles:PS50001	.	.	ENSP00000264316	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000264316	Transcript	.	.	ENSG00000074966	12434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	TXK_HUMAN	TXK	HGNC	Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN	.	UPI000013D4F9	SNV	TXK,missense_variant,p.Tyr203Cys,ENST00000264316,;TXK,non_coding_transcript_exon_variant,,ENST00000510457,;	694	31	42	SUCCESS
WFS1	7466	.	GRCh37	4	6279336	6279336	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs111773340	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	9	163	0	ENST00000226760.1:c.154C>T	p.Pro52Ser	p.P52S	ENST00000226760	NM_001145853.1	52	Cct/Tct	0	A:0.0005	A:0.0015	.	A:0	.	T	P/S	protein_coding	YES	CCDS3386.1	154	MUTECT|MUSE	.	CTGGCCCTGGT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13098	A:0	A:0	ENSP00000226760	A:0	2/8	.	.	.	.	.	.	.	.	rs111773340	2/8	PASS	ENST00000226760	Transcript	1	A:0.0004	ENSG00000109501	12762	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	A:0	tolerated_low_confidence(0.37)	.	WFS1_HUMAN	WFS1	HGNC	B4DJ99_HUMAN	.	UPI00000715C3	SNV	WFS1,missense_variant,p.Pro52Ser,ENST00000503569,;WFS1,missense_variant,p.Pro52Ser,ENST00000226760,;WFS1,non_coding_transcript_exon_variant,,ENST00000506588,;	324	163	141	SUCCESS
MAN2B2	23324	.	GRCh37	4	6596347	6596354	+	frameshift_variant	Frame_Shift_Del	DEL	GCTCGGTG	GCTCGGTG	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	GCTCGGTG	GCTCGGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	45	0	ENST00000285599.3:c.945_952del	p.Glu315AspfsTer104	p.E315Dfs*104	ENST00000285599	NM_015274.1	315	gaGCTCGGTGtc/gatc	0	.	.	.	.	.	-	ELGV/DX	protein_coding	YES	CCDS33951.1	945-952	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCGAGCTCGGTGTCTCG	NONE	.	.	hmmpanther:PTHR11607:SF5,hmmpanther:PTHR11607,Gene3D:3.20.110.10,Pfam_domain:PF01074,Superfamily_domains:SSF88713	.	.	ENSP00000285599	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000285599	Transcript	.	.	ENSG00000013288	29623	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MA2B2_HUMAN	MAN2B2	HGNC	Q05BN7_HUMAN,B3KQN1_HUMAN	.	UPI000004BF05	deletion	MAN2B2,splice_acceptor_variant,,ENST00000504248,;MAN2B2,frameshift_variant,p.Glu314AspfsTer104,ENST00000505907,;MAN2B2,frameshift_variant,p.Glu315AspfsTer104,ENST00000285599,;	981-988	45	51	SUCCESS
UGT2B4	7363	.	GRCh37	4	70361213	70361216	+	frameshift_variant	Frame_Shift_Del	DEL	GTAT	GTAT	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	GTAT	GTAT	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	82	0	ENST00000305107.6:c.364_367del	p.Ile122LeufsTer8	p.I122Lfs*8	ENST00000305107	NM_021139.2	122	ATACtt/tt	0	.	.	.	.	.	-	IL/X	protein_coding	YES	CCDS43234.1	364-367	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTAAGTATGTCAT	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,frameshift_variant,p.Ile122LeufsTer8,ENST00000305107,;UGT2B4,frameshift_variant,p.Ile122LeufsTer8,ENST00000512583,;UGT2B4,intron_variant,,ENST00000381096,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;UGT2B4,intron_variant,,ENST00000502655,;	411-414	82	120	SUCCESS
SCARB2	950	.	GRCh37	4	77091120	77091120	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	74	0	ENST00000264896.2:c.1013C>A	p.Ser338Tyr	p.S338Y	ENST00000264896	NM_005506.3	338	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS3577.1	1013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGACATA	NONE	.	.	hmmpanther:PTHR11923:SF60,hmmpanther:PTHR11923,Pfam_domain:PF01130,Prints_domain:PR01609	.	.	ENSP00000264896	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000264896	Transcript	1	.	ENSG00000138760	1665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	SCRB2_HUMAN	SCARB2	HGNC	.	.	UPI0000032D38	SNV	SCARB2,missense_variant,p.Ser338Tyr,ENST00000264896,;SCARB2,missense_variant,p.Ser195Tyr,ENST00000452464,;SCARB2,upstream_gene_variant,,ENST00000511129,;	1363	74	101	SUCCESS
SCARB2	950	.	GRCh37	4	77095407	77095407	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	38	61	0	ENST00000264896.2:c.884A>G	p.Tyr295Cys	p.Y295C	ENST00000264896	NM_005506.3	295	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3577.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATACCGA	NONE	.	.	hmmpanther:PTHR11923:SF60,hmmpanther:PTHR11923,Pfam_domain:PF01130	.	.	ENSP00000264896	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000264896	Transcript	1	.	ENSG00000138760	1665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	SCRB2_HUMAN	SCARB2	HGNC	.	.	UPI0000032D38	SNV	SCARB2,missense_variant,p.Tyr295Cys,ENST00000264896,;SCARB2,missense_variant,p.Tyr152Cys,ENST00000452464,;	1234	61	116	SUCCESS
SHROOM3	57619	.	GRCh37	4	77677774	77677774	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	7	154	0	ENST00000296043.6:c.4882C>G	p.Leu1628Val	p.L1628V	ENST00000296043	NM_020859.3	1628	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3579.2	4882	MUTECT|MUSE	.	GGTCTCTTGGT	NONE	.	.	hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	.	.	ENSP00000296043	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.075)	.	tolerated(0.41)	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,missense_variant,p.Leu1628Val,ENST00000296043,;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,downstream_gene_variant,,ENST00000469923,;	5835	154	184	SUCCESS
FRAS1	80144	.	GRCh37	4	79432627	79432627	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	79	0	ENST00000264895.6:c.9980A>C	p.Tyr3327Ser	p.Y3327S	ENST00000264895	NM_025074.6	3327	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS54771.1	9980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATACCTGG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	64/74	.	.	.	.	.	.	.	.	.	64/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Tyr1556Ser,ENST00000512123,;FRAS1,missense_variant,p.Tyr3327Ser,ENST00000264895,;	10420	80	100	SUCCESS
WDFY3	23001	.	GRCh37	4	85639621	85639621	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	57	0	ENST00000295888.4:c.7708A>T	p.Met2570Leu	p.M2570L	ENST00000295888	NM_014991.4	2570	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS3609.1	7708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATGGTAA	NONE	.	.	Superfamily_domains:SSF50729,Gene3D:1t77A01,Pfam_domain:PF14844,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	48/68	.	.	.	.	.	.	.	.	.	48/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Met173Leu,ENST00000514711,;WDFY3,missense_variant,p.Met2570Leu,ENST00000295888,;WDFY3,missense_variant,p.Met2553Leu,ENST00000322366,;	8116	57	97	SUCCESS
ROPN1L	83853	.	GRCh37	5	10465005	10465005	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	374	87	224	0	ENST00000274134.4:c.639T>C	p.Phe213=	p.F213=	ENST00000274134	NM_031916.4	213	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS3879.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTCCAAA	NONE	.	.	hmmpanther:PTHR14952:SF2,hmmpanther:PTHR14952	.	.	ENSP00000421405	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000503804	Transcript	.	.	ENSG00000145491	24060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROP1L_HUMAN	ROPN1L	HGNC	.	.	UPI000013D9F3	SNV	ROPN1L,synonymous_variant,p.%3D,ENST00000274134,;ROPN1L,synonymous_variant,p.%3D,ENST00000503804,;ROPN1L,intron_variant,,ENST00000510520,;ROPN1L,downstream_gene_variant,,ENST00000515762,;ROPN1L,downstream_gene_variant,,ENST00000512022,;	1160	224	462	SUCCESS
AQPEP	0	.	GRCh37	5	115319017	115319017	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	419	11	274	0	ENST00000357872.4:c.729T>C	p.Phe243=	p.F243=	ENST00000357872	NM_173800.4	243	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS4124.1	729	MUTECT|MUSE	.	ACATTTGCCAG	NONE	.	.	Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533	.	.	ENSP00000350541	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,synonymous_variant,p.%3D,ENST00000357872,;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,synonymous_variant,p.%3D,ENST00000504467,;	853	274	430	SUCCESS
DNAH5	1767	.	GRCh37	5	13718998	13718998	+	synonymous_variant	Silent	SNP	T	T	C	rs141935657	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	59	0	ENST00000265104.4:c.12492A>G	p.Thr4164=	p.T4164=	ENST00000265104	NM_001369.2	4164	acA/acG	0	C:0.0002	.	.	.	.	C	T	protein_coding	YES	CCDS3882.1	12492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATATGTTCT	NONE	byCluster	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	C:0	ENSP00000265104	.	72/79	.	.	.	.	.	.	.	.	rs141935657	72/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	12597	59	78	SUCCESS
BRD8	10902	.	GRCh37	5	137492802	137492802	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000254900.5:c.2577+2442A>T		p.*859*	ENST00000254900	NM_139199.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4198.1	.	MUTECT|MUSE	.	TCTTCTGTAAC	NONE	.	.	.	.	.	ENSP00000254900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	MODIFIER	20/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,3_prime_UTR_variant,,ENST00000455658,;BRD8,3_prime_UTR_variant,,ENST00000402931,;BRD8,3_prime_UTR_variant,,ENST00000454473,;BRD8,3_prime_UTR_variant,,ENST00000411594,;BRD8,3_prime_UTR_variant,,ENST00000418329,;BRD8,3_prime_UTR_variant,,ENST00000230901,;BRD8,3_prime_UTR_variant,,ENST00000441656,;BRD8,intron_variant,,ENST00000254900,;BRD8,downstream_gene_variant,,ENST00000511898,;BRD8,upstream_gene_variant,,ENST00000427976,;BRD8,downstream_gene_variant,,ENST00000515014,;BRD8,3_prime_UTR_variant,,ENST00000512140,;BRD8,3_prime_UTR_variant,,ENST00000472478,;BRD8,downstream_gene_variant,,ENST00000506167,;BRD8,downstream_gene_variant,,ENST00000460746,;BRD8,downstream_gene_variant,,ENST00000489351,;	.	17	15	SUCCESS
APBB3	10307	.	GRCh37	5	139941993	139941993	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1404667500	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	28	0	ENST00000357560.4:c.443A>G	p.Gln148Arg	p.Q148R	ENST00000357560	NM_133173.2	148	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4227.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGGATA	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF10,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000346378	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000354402	Transcript	.	.	ENSG00000113108	20708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(1)	.	APBB3_HUMAN	APBB3	HGNC	F5H1N5_HUMAN	.	UPI0000414594	SNV	APBB3,missense_variant,p.Gln148Arg,ENST00000356738,;APBB3,missense_variant,p.Gln148Arg,ENST00000357560,;APBB3,missense_variant,p.Gln148Arg,ENST00000511201,;APBB3,missense_variant,p.Gln148Arg,ENST00000412920,;APBB3,missense_variant,p.Gln148Arg,ENST00000354402,;APBB3,missense_variant,p.Gln148Arg,ENST00000358580,;APBB3,5_prime_UTR_variant,,ENST00000508496,;SRA1,upstream_gene_variant,,ENST00000336283,;SLC35A4,upstream_gene_variant,,ENST00000323146,;SLC35A4,upstream_gene_variant,,ENST00000514199,;APBB3,non_coding_transcript_exon_variant,,ENST00000505617,;APBB3,downstream_gene_variant,,ENST00000507279,;SRA1,upstream_gene_variant,,ENST00000520427,;APBB3,downstream_gene_variant,,ENST00000513766,;SLC35A4,upstream_gene_variant,,ENST00000508770,;APBB3,missense_variant,p.Gln148Arg,ENST00000467078,;APBB3,missense_variant,p.Gln148Arg,ENST00000509914,;APBB3,missense_variant,p.Gln102Arg,ENST00000511896,;APBB3,non_coding_transcript_exon_variant,,ENST00000511463,;APBB3,non_coding_transcript_exon_variant,,ENST00000515056,;APBB3,non_coding_transcript_exon_variant,,ENST00000503979,;APBB3,non_coding_transcript_exon_variant,,ENST00000510241,;APBB3,non_coding_transcript_exon_variant,,ENST00000506289,;APBB3,non_coding_transcript_exon_variant,,ENST00000513507,;APBB3,non_coding_transcript_exon_variant,,ENST00000506958,;SRA1,upstream_gene_variant,,ENST00000602775,;SRA1,upstream_gene_variant,,ENST00000523259,;APBB3,downstream_gene_variant,,ENST00000511459,;SLC35A4,upstream_gene_variant,,ENST00000514137,;APBB3,upstream_gene_variant,,ENST00000504872,;APBB3,downstream_gene_variant,,ENST00000506165,;APBB3,downstream_gene_variant,,ENST00000503850,;SRA1,upstream_gene_variant,,ENST00000602875,;	458	28	36	SUCCESS
PCDHA3	56145	.	GRCh37	5	140181280	140181280	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	62	0	ENST00000522353.2:c.498G>A	p.Ser166=	p.S166=	ENST00000522353	NM_018906.2	166	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54915.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCGTTGTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,synonymous_variant,p.%3D,ENST00000532566,;PCDHA3,synonymous_variant,p.%3D,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA2,downstream_gene_variant,,ENST00000378132,;	498	62	90	SUCCESS
MRPL22	29093	.	GRCh37	5	154330405	154330405	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	41	0	ENST00000523037.1:c.102C>G	p.His34Gln	p.H34Q	ENST00000523037	NM_014180.3	34	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS4331.1	102	MUTECT|MUSE	.	ATCCACACAAG	NONE	.	.	hmmpanther:PTHR13501	.	.	ENSP00000431040	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000523037	Transcript	.	.	ENSG00000082515	14480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.323)	.	deleterious(0)	.	RM22_HUMAN	MRPL22	HGNC	.	.	UPI0000046801	SNV	MRPL22,missense_variant,p.His34Gln,ENST00000523037,;MRPL22,missense_variant,p.His40Gln,ENST00000522038,;MRPL22,missense_variant,p.His60Gln,ENST00000439747,;MRPL22,intron_variant,,ENST00000265229,;MRPL22,intron_variant,,ENST00000519059,;MRPL22,upstream_gene_variant,,ENST00000520040,;	143	41	62	SUCCESS
GABRA6	2559	.	GRCh37	5	161128536	161128536	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	43	0	ENST00000274545.5:c.1119G>T	p.Arg373Ser	p.R373S	ENST00000274545		373	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4356.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGATCAC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Superfamily_domains:SSF90112,Prints_domain:PR01619	.	.	ENSP00000274545	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.21)	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,missense_variant,p.Arg363Ser,ENST00000523217,;GABRA6,missense_variant,p.Arg373Ser,ENST00000274545,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;	1552	43	78	SUCCESS
CDHR2	54825	.	GRCh37	5	176018233	176018233	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	90	0	ENST00000261944.5:c.3562A>G	p.Met1188Val	p.M1188V	ENST00000261944	NM_017675.4	1188	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34297.1	3562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTATGAAG	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF286	.	.	ENSP00000424565	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000510636	Transcript	.	.	ENSG00000074276	18231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,missense_variant,p.Met1188Val,ENST00000261944,;CDHR2,missense_variant,p.Met1188Val,ENST00000506348,;CDHR2,missense_variant,p.Met1188Val,ENST00000510636,;GPRIN1,downstream_gene_variant,,ENST00000303991,;CDHR2,non_coding_transcript_exon_variant,,ENST00000416365,;CDHR2,downstream_gene_variant,,ENST00000513031,;CDHR2,downstream_gene_variant,,ENST00000508085,;	3836	90	85	SUCCESS
SLC34A1	6569	.	GRCh37	5	176813072	176813072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1294468517	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	91	0	ENST00000324417.5:c.194G>A	p.Gly65Glu	p.G65E	ENST00000324417	NM_003052.4	65	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS4418.1	194	MUTECT|MUSE|VARSCANS	.	CTGTGGGGAGG	NONE	.	.	hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF21	.	.	ENSP00000321424	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000324417	Transcript	1	.	ENSG00000131183	11019	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.494)	.	tolerated(0.09)	.	NPT2A_HUMAN	SLC34A1	HGNC	Q05BP0_HUMAN,D6RCE5_HUMAN	.	UPI0000130408	SNV	SLC34A1,missense_variant,p.Gly65Glu,ENST00000504577,;SLC34A1,missense_variant,p.Gly65Glu,ENST00000512593,;SLC34A1,missense_variant,p.Gly65Glu,ENST00000324417,;SLC34A1,upstream_gene_variant,,ENST00000513614,;SLC34A1,non_coding_transcript_exon_variant,,ENST00000507685,;	285	91	90	SUCCESS
NPR3	4883	.	GRCh37	5	32739134	32739134	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	41	0	ENST00000265074.8:c.1057T>A	p.Tyr353Asn	p.Y353N	ENST00000265074	NM_001204375.1	353	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS56357.1	1057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATTACGTA	BUFFER|p.?|c.1059+1G>A|3	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2	.	.	ENSP00000265074	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.79)	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,missense_variant,p.Tyr353Asn,ENST00000265074,;NPR3,missense_variant,p.Tyr137Asn,ENST00000434067,;NPR3,missense_variant,p.Tyr353Asn,ENST00000415167,;NPR3,missense_variant,p.Tyr130Asn,ENST00000509104,;NPR3,missense_variant,p.Tyr137Asn,ENST00000415685,;NPR3,splice_region_variant,,ENST00000506712,;	1400	41	54	SUCCESS
RICTOR	253260	.	GRCh37	5	38945618	38945618	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	57	0	ENST00000357387.3:c.4608A>T	p.Gln1536His	p.Q1536H	ENST00000357387	NM_152756.3	1536	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS34148.1	4608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGTTGGTT	NONE	.	.	hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	34/38	.	.	.	.	.	.	.	.	.	34/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.09)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Gln1536His,ENST00000357387,;RICTOR,missense_variant,p.Gln1560His,ENST00000296782,;RICTOR,3_prime_UTR_variant,,ENST00000511516,;OSMR,3_prime_UTR_variant,,ENST00000509237,;RICTOR,upstream_gene_variant,,ENST00000505927,;OSMR,downstream_gene_variant,,ENST00000508882,;	4639	57	86	SUCCESS
SEPP1	0	.	GRCh37	5	42808383	42808383	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	35	0	ENST00000506577.1:c.73A>C	p.Ser25Arg	p.S25R	ENST00000506577		25	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS43311.1	73	MUTECT|MUSE	.	GGAGCTTTGGT	NONE	.	.	hmmpanther:PTHR10105,hmmpanther:PTHR10105:SF3,Pfam_domain:PF04592	.	.	ENSP00000420939	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000514985	Transcript	.	.	ENSG00000250722	10751	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.931)	.	tolerated(0.12)	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,missense_variant,p.Ser25Arg,ENST00000506577,;SEPP1,missense_variant,p.Ser25Arg,ENST00000510965,;SEPP1,missense_variant,p.Ser25Arg,ENST00000507920,;SEPP1,missense_variant,p.Ser25Arg,ENST00000511224,;SEPP1,missense_variant,p.Ser25Arg,ENST00000514218,;SEPP1,missense_variant,p.Ser25Arg,ENST00000514985,;CTD-2325A15.5,downstream_gene_variant,,ENST00000606056,;SEPP1,non_coding_transcript_exon_variant,,ENST00000513303,;SEPP1,non_coding_transcript_exon_variant,,ENST00000509276,;SEPP1,non_coding_transcript_exon_variant,,ENST00000515626,;SEPP1,non_coding_transcript_exon_variant,,ENST00000506078,;SEPP1,non_coding_transcript_exon_variant,,ENST00000512980,;SEPP1,non_coding_transcript_exon_variant,,ENST00000508937,;SEPP1,non_coding_transcript_exon_variant,,ENST00000505309,;SEPP1,intron_variant,,ENST00000510650,;SEPP1,upstream_gene_variant,,ENST00000514403,;	330	35	53	SUCCESS
PARP8	79668	.	GRCh37	5	50091213	50091213	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	5	113	0	ENST00000281631.5:c.1390A>G	p.Ile464Val	p.I464V	ENST00000281631	NM_024615.3	464	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3954.1	1390	MUTECT|MUSE	.	TTGGTATCCTA	NONE	.	.	hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3	.	.	ENSP00000281631	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000281631	Transcript	.	.	ENSG00000151883	26124	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.064)	.	tolerated_low_confidence(0.18)	.	PARP8_HUMAN	PARP8	HGNC	D6RGZ9_HUMAN	.	UPI0000073D19	SNV	PARP8,missense_variant,p.Ile464Val,ENST00000503750,;PARP8,missense_variant,p.Ile464Val,ENST00000514067,;PARP8,missense_variant,p.Ile217Val,ENST00000514342,;PARP8,missense_variant,p.Ile464Val,ENST00000505697,;PARP8,missense_variant,p.Ile464Val,ENST00000281631,;PARP8,missense_variant,p.Ile443Val,ENST00000505554,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;	1548	113	149	SUCCESS
CDC20B	166979	.	GRCh37	5	54442593	54442593	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs748923654	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	61	1	ENST00000381375.2:c.218T>G	p.Ile73Ser	p.I73S	ENST00000381375		73	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS54852.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTAATGGGG	NONE	.	.	hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918	.	.	ENSP00000370781	.	3/12	.	.	.	.	.	.	.	.	rs748923654	3/12	PASS	ENST00000381375	Transcript	.	.	ENSG00000164287	24222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	deleterious(0)	.	CD20B_HUMAN	CDC20B	HGNC	.	.	UPI0000D61625	SNV	CDC20B,missense_variant,p.Ile73Ser,ENST00000296733,;CDC20B,missense_variant,p.Ile52Ser,ENST00000331730,;CDC20B,missense_variant,p.Ile73Ser,ENST00000322374,;CDC20B,missense_variant,p.Ile73Ser,ENST00000334206,;CDC20B,missense_variant,p.Ile73Ser,ENST00000381375,;CDC20B,missense_variant,p.Ile73Ser,ENST00000513180,;CDC20B,missense_variant,p.Ile52Ser,ENST00000507931,;	364	62	105	SUCCESS
MAST4	375449	.	GRCh37	5	66396331	66396331	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1182549985	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	62	0	ENST00000403625.2:c.981C>A	p.Phe327Leu	p.F327L	ENST00000403625	NM_001164664.1	327	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS54861.1	981	MUTECT|MUSE	.	CACTTCTTATC	NONE	.	.	Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139	.	.	ENSP00000385727	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000403625	Transcript	.	.	ENSG00000069020	19037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.66)	.	.	.	.	MAST4	HGNC	J3QT34_HUMAN	.	UPI000173A2B0	SNV	MAST4,missense_variant,p.Phe138Leu,ENST00000403666,;MAST4,missense_variant,p.Phe330Leu,ENST00000404260,;MAST4,missense_variant,p.Phe133Leu,ENST00000261569,;MAST4,missense_variant,p.Phe138Leu,ENST00000490016,;MAST4,missense_variant,p.Phe148Leu,ENST00000405643,;MAST4,missense_variant,p.Phe133Leu,ENST00000436277,;MAST4,missense_variant,p.Phe327Leu,ENST00000403625,;MAST4,missense_variant,p.Phe133Leu,ENST00000447738,;	1276	62	76	SUCCESS
HMGCR	3156	.	GRCh37	5	74650335	74650335	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	41	0	ENST00000287936.4:c.1376C>T	p.Ala459Val	p.A459V	ENST00000287936	NM_000859.2	459	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4027.1	1376	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCAAAAT	NONE	.	.	hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,Gene3D:1.10.3270.10,TIGRFAM_domain:TIGR00920,Superfamily_domains:SSF56542	.	.	ENSP00000287936	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000287936	Transcript	1	.	ENSG00000113161	5006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	tolerated(0.05)	.	HMDH_HUMAN	HMGCR	HGNC	D6RIW0_HUMAN,C9JKX7_HUMAN	.	UPI000012C9E2	SNV	HMGCR,missense_variant,p.Ala459Val,ENST00000343975,;HMGCR,missense_variant,p.Ala459Val,ENST00000287936,;HMGCR,missense_variant,p.Ala459Val,ENST00000511206,;HMGCR,upstream_gene_variant,,ENST00000511986,;HMGCR,upstream_gene_variant,,ENST00000509085,;HMGCR,non_coding_transcript_exon_variant,,ENST00000515776,;HMGCR,upstream_gene_variant,,ENST00000508070,;HMGCR,upstream_gene_variant,,ENST00000514315,;HMGCR,downstream_gene_variant,,ENST00000504466,;	1532	41	73	SUCCESS
AP3B1	8546	.	GRCh37	5	77423969	77423969	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	30	0	ENST00000255194.6:c.1853A>G	p.Gln618Arg	p.Q618R	ENST00000255194		618	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4041.1	1853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTGGAAA	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096	.	.	ENSP00000255194	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000255194	Transcript	1	.	ENSG00000132842	566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.07)	.	AP3B1_HUMAN	AP3B1	HGNC	E5RJ68_HUMAN	.	UPI00001AE77D	SNV	AP3B1,missense_variant,p.Gln618Arg,ENST00000255194,;AP3B1,missense_variant,p.Gln569Arg,ENST00000519295,;AP3B1,non_coding_transcript_exon_variant,,ENST00000517561,;	2029	30	73	SUCCESS
ERAP1	51752	.	GRCh37	5	96117490	96117490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	43	0	ENST00000443439.2:c.2354T>C	p.Leu785Pro	p.L785P	ENST00000443439	NM_001040458.1	785	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4085.1	2354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAAAGAAAA	NONE	.	.	hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF156,Pfam_domain:PF11838	.	.	ENSP00000296754	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000296754	Transcript	.	.	ENSG00000164307	18173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ERAP1_HUMAN	ERAP1	HGNC	D6RAL9_HUMAN	.	UPI000045731D	SNV	ERAP1,missense_variant,p.Leu785Pro,ENST00000443439,;ERAP1,missense_variant,p.Leu785Pro,ENST00000296754,;ERAP1,upstream_gene_variant,,ENST00000512852,;CTD-2260A17.1,upstream_gene_variant,,ENST00000602972,;CTD-2260A17.1,upstream_gene_variant,,ENST00000512856,;ERAP1,non_coding_transcript_exon_variant,,ENST00000514604,;ERAP1,downstream_gene_variant,,ENST00000507859,;CAST,downstream_gene_variant,,ENST00000510098,;	2612	43	61	SUCCESS
CCNC	892	.	GRCh37	6	100016396	100016396	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1201923177	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	65	0	ENST00000520429.1:c.8G>A	p.Gly3Glu	p.G3E	ENST00000520429	NM_005190.3	3	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS34502.1	8	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCCTGCC	NONE	.	.	hmmpanther:PTHR10026,Gene3D:1.10.472.10,PIRSF_domain:PIRSF028758	.	.	ENSP00000428982	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000520429	Transcript	.	.	ENSG00000112237	1581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.669)	.	tolerated(0.06)	.	CCNC_HUMAN	CCNC	HGNC	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN	.	UPI0000169CFB	SNV	CCNC,missense_variant,p.Gly3Glu,ENST00000369220,;CCNC,missense_variant,p.Gly3Glu,ENST00000520371,;CCNC,missense_variant,p.Gly3Glu,ENST00000518714,;CCNC,missense_variant,p.Gly3Glu,ENST00000520429,;CCNC,missense_variant,p.Gly3Glu,ENST00000482541,;CCNC,missense_variant,p.Gly3Glu,ENST00000369217,;CCNC,5_prime_UTR_variant,,ENST00000523985,;CCNC,intron_variant,,ENST00000523799,;CCNC,upstream_gene_variant,,ENST00000524049,;RP1-199J3.7,non_coding_transcript_exon_variant,,ENST00000607332,;CCNC,non_coding_transcript_exon_variant,,ENST00000521017,;CCNC,missense_variant,p.Gly3Glu,ENST00000523961,;CCNC,missense_variant,p.Gly3Glu,ENST00000326298,;CCNC,missense_variant,p.Gly3Glu,ENST00000484049,;CCNC,non_coding_transcript_exon_variant,,ENST00000523541,;CCNC,non_coding_transcript_exon_variant,,ENST00000523639,;	454	65	63	SUCCESS
BVES-AS1	154442	.	GRCh37	6	105585599	105585599	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1337196053	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	26	0	ENST00000369122.3:n.38G>A		p.*13*	ENST00000369122				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5051.1	.	MUTECT|MUSE	.	GCCGCGCGGGA	NONE	.	550	.	.	.	ENSP00000313172	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,upstream_gene_variant,,ENST00000336775,;BVES,upstream_gene_variant,,ENST00000446408,;BVES,upstream_gene_variant,,ENST00000314641,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000369122,;BVES-AS1,intron_variant,,ENST00000580511,;BVES-AS1,intron_variant,,ENST00000580854,;BVES-AS1,upstream_gene_variant,,ENST00000369120,;	.	26	30	SUCCESS
AK9	221264	.	GRCh37	6	109863371	109863371	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	44	0	ENST00000424296.2:c.3229C>A	p.Pro1077Thr	p.P1077T	ENST00000424296	NM_001145128.2	1077	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55048.1	3229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGAAGCT	NONE	.	.	hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,SMART_domains:SM00382	.	.	ENSP00000410186	.	27/41	.	.	.	.	.	.	.	.	.	27/41	PASS	ENST00000424296	Transcript	.	.	ENSG00000155085	33814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	tolerated(0.14)	.	KAD9_HUMAN	AK9	HGNC	E9PPU7_HUMAN,E9PPM3_HUMAN	.	UPI0001A48FC8	SNV	AK9,missense_variant,p.Pro156Thr,ENST00000341338,;AK9,missense_variant,p.Pro1077Thr,ENST00000424296,;AK9,missense_variant,p.Pro156Thr,ENST00000355283,;AK9,missense_variant,p.Pro12Thr,ENST00000491875,;	3306	44	93	SUCCESS
RPF2	84154	.	GRCh37	6	111320922	111320922	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	5	48	0	ENST00000441448.2:c.325T>C	p.Tyr109His	p.Y109H	ENST00000441448	NM_032194.1	109	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS5088.1	325	MUTECT|MUSE	.	GTATGTATGAC	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR12728:SF0,hmmpanther:PTHR12728,Pfam_domain:PF04427,SMART_domains:SM00879	.	.	ENSP00000402338	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000441448	Transcript	.	.	ENSG00000197498	20870	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.964)	.	tolerated(0.06)	.	RPF2_HUMAN	RPF2	HGNC	Q5VXN0_HUMAN	.	UPI000006E56D	SNV	RPF2,missense_variant,p.Tyr109His,ENST00000441448,;RPF2,missense_variant,p.Tyr76His,ENST00000425871,;RPF2,3_prime_UTR_variant,,ENST00000368864,;RPF2,3_prime_UTR_variant,,ENST00000607388,;	417	48	68	SUCCESS
ARG1	383	.	GRCh37	6	131895240	131895240	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	21	0	ENST00000368087.3:c.57+761G>C		p.*19*	ENST00000368087				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59038.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGAGAGT	NONE	.	.	.	.	.	ENSP00000349446	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356962	Transcript	.	.	ENSG00000118520	663	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARGI1_HUMAN	ARG1	HGNC	.	.	UPI000013CA10	SNV	MED23,3_prime_UTR_variant,,ENST00000354577,;ARG1,intron_variant,,ENST00000356962,;ARG1,intron_variant,,ENST00000368087,;ARG1,intron_variant,,ENST00000498260,;ARG1,intron_variant,,ENST00000469293,;ARG1,intron_variant,,ENST00000275196,;ARG1,upstream_gene_variant,,ENST00000484820,;	.	21	34	SUCCESS
TAAR2	9287	.	GRCh37	6	132938564	132938564	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	84	0	ENST00000367931.1:c.781G>T	p.Ala261Ser	p.A261S	ENST00000367931		261	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34541.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCAGCTT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24249:SF30,hmmpanther:PTHR24249,PROSITE_profiles:PS50262	.	.	ENSP00000356908	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367931	Transcript	.	.	ENSG00000146378	4514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	deleterious(0)	.	TAAR2_HUMAN	TAAR2	HGNC	.	.	UPI000048F3E6	SNV	TAAR2,missense_variant,p.Ala216Ser,ENST00000537809,;TAAR2,missense_variant,p.Ala261Ser,ENST00000367931,;TAAR2,missense_variant,p.Ala216Ser,ENST00000275191,;	781	84	146	SUCCESS
HBS1L	10767	.	GRCh37	6	135357985	135357985	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	25	47	0	ENST00000367837.5:c.430+2726A>C		p.*144*	ENST00000367837	NM_006620.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5173.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGTTTTTC	NONE	.	.	.	.	.	ENSP00000356811	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367837	Transcript	.	.	ENSG00000112339	4834	.	.	MODIFIER	4/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBS1L_HUMAN	HBS1L	HGNC	E9PS53_HUMAN,E9PHZ9_HUMAN,D9YZV0_HUMAN,B7Z524_HUMAN,B7Z1K2_HUMAN	.	UPI00000372EA	SNV	HBS1L,missense_variant,p.Asn537Thr,ENST00000367822,;HBS1L,intron_variant,,ENST00000415177,;HBS1L,intron_variant,,ENST00000367824,;HBS1L,intron_variant,,ENST00000367837,;HBS1L,intron_variant,,ENST00000529882,;HBS1L,intron_variant,,ENST00000367820,;HBS1L,intron_variant,,ENST00000524715,;HBS1L,intron_variant,,ENST00000445176,;HBS1L,intron_variant,,ENST00000367826,;HBS1L,intron_variant,,ENST00000314674,;HBS1L,intron_variant,,ENST00000533274,;HBS1L,downstream_gene_variant,,ENST00000525067,;HBS1L,intron_variant,,ENST00000526100,;	.	47	94	SUCCESS
KIAA1244	0	.	GRCh37	6	138584345	138584345	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	75	0	ENST00000251691.4:c.1725T>C	p.Thr575=	p.T575=	ENST00000251691	NM_020340.4	575	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS5189.2	1725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAACTAACTT	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,synonymous_variant,p.%3D,ENST00000251691,;	1891	75	70	SUCCESS
UTRN	7402	.	GRCh37	6	144869853	144869874	+	frameshift_variant	Frame_Shift_Del	DEL	ATTTCAATTCCTGCTGATCTTG	ATTTCAATTCCTGCTGATCTTG	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	ATTTCAATTCCTGCTGATCTTG	ATTTCAATTCCTGCTGATCTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	69	0	ENST00000367545.3:c.6675_6696del	p.Ser2226LysfsTer3	p.S2226Kfs*3	ENST00000367545	NM_007124.2	2225	ATTTCAATTCCTGCTGATCTTGat/at	0	.	.	.	.	.	-	ISIPADLD/X	protein_coding	YES	CCDS34547.1	6673-6694	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGGAAATTTCAATTCCTGCTGATCTTGATAAA	NONE	.	.	hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,SMART_domains:SM00150,PIRSF_domain:PIRSF002341	.	.	ENSP00000356515	.	46/74	.	.	.	.	.	.	.	.	.	46/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	deletion	UTRN,frameshift_variant,p.Ser2226LysfsTer3,ENST00000367545,;	6673-6694	69	104	SUCCESS
LATS1	9113	.	GRCh37	6	150022993	150023000	+	frameshift_variant	Frame_Shift_Del	DEL	ATTTGCAA	ATTTGCAA	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	ATTTGCAA	ATTTGCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	65	0	ENST00000253339.5:c.263_270del	p.Phe88Ter	p.F88*	ENST00000253339		88	tTTGCAAAT/t	0	.	.	.	.	.	-	FAN/X	protein_coding	YES	CCDS34551.1	263-270	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTTCATTTGCAAATGGA	NONE	.	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138	.	.	ENSP00000437550	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000543571	Transcript	.	.	ENSG00000131023	6514	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LATS1_HUMAN	LATS1	HGNC	.	.	UPI0000073DC2	deletion	LATS1,frameshift_variant,p.Phe88Ter,ENST00000253339,;LATS1,frameshift_variant,p.Phe88Ter,ENST00000392273,;LATS1,frameshift_variant,p.Phe88Ter,ENST00000543571,;LATS1,intron_variant,,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,frameshift_variant,p.Phe88Ter,ENST00000441107,;LATS1,frameshift_variant,p.Phe88Ter,ENST00000542720,;	811-818	65	87	SUCCESS
THBS2	7058	.	GRCh37	6	169650830	169650830	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	33	70	0	ENST00000366787.3:c.50A>C	p.Gln17Pro	p.Q17P	ENST00000366787	NM_003247.2	17	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34574.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTGCGTG	BUFFER|p.?|c.52+1G>A|3	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199	.	.	ENSP00000355751	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated_low_confidence(0.22)	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,missense_variant,p.Gln17Pro,ENST00000435791,;THBS2,missense_variant,p.Gln17Pro,ENST00000366787,;THBS2,upstream_gene_variant,,ENST00000472733,;	300	70	113	SUCCESS
NUP153	9972	.	GRCh37	6	17675798	17675798	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	24	86	0	ENST00000262077.2:c.538A>C	p.Asn180His	p.N180H	ENST00000262077	NM_001278210.1	180	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS4541.1	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTATCAT	NONE	.	.	Pfam_domain:PF08604,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	.	.	ENSP00000262077	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,missense_variant,p.Asn180His,ENST00000537253,;NUP153,missense_variant,p.Asn180His,ENST00000262077,;	538	86	129	SUCCESS
ETV7	51513	.	GRCh37	6	36334437	36334437	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	56	0	ENST00000340181.4:c.1011A>T	p.Pro337=	p.P337=	ENST00000340181	NM_001207040.1	337	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4819.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTGGCCT	NONE	.	.	.	.	.	ENSP00000341843	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000340181	Transcript	.	.	ENSG00000010030	18160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETV7_HUMAN	ETV7	HGNC	.	.	UPI0000001C49	SNV	ETV7,synonymous_variant,p.%3D,ENST00000538992,;ETV7,synonymous_variant,p.%3D,ENST00000340181,;ETV7,synonymous_variant,p.%3D,ENST00000373738,;ETV7,synonymous_variant,p.%3D,ENST00000373737,;ETV7,intron_variant,,ENST00000339796,;	1253	56	70	SUCCESS
DAAM2	23500	.	GRCh37	6	39867903	39867903	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	55	0	ENST00000274867.4:c.2730C>A	p.Val910=	p.V910=	ENST00000274867	NM_001201427.1	910	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS56426.1	2730	MUTECT|MUSE	.	TTTGTCCCTGT	NONE	.	.	Superfamily_domains:SSF101447,SMART_domains:SM00498,Pfam_domain:PF02181,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,PROSITE_profiles:PS51444	.	.	ENSP00000381876	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000398904	Transcript	.	.	ENSG00000146122	18143	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAAM2_HUMAN	DAAM2	HGNC	.	.	UPI000020DC88	SNV	DAAM2,synonymous_variant,p.%3D,ENST00000538976,;DAAM2,synonymous_variant,p.%3D,ENST00000274867,;DAAM2,synonymous_variant,p.%3D,ENST00000398904,;MOCS1,downstream_gene_variant,,ENST00000373188,;MOCS1,downstream_gene_variant,,ENST00000373175,;MOCS1,downstream_gene_variant,,ENST00000308559,;MOCS1,downstream_gene_variant,,ENST00000373186,;RP11-61I13.3,upstream_gene_variant,,ENST00000606829,;RP11-61I13.3,upstream_gene_variant,,ENST00000430595,;RP11-61I13.3,upstream_gene_variant,,ENST00000420293,;RP11-61I13.3,upstream_gene_variant,,ENST00000437947,;MOCS1,intron_variant,,ENST00000373181,;	2912	55	61	SUCCESS
MEP1A	4224	.	GRCh37	6	46794122	46794122	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	45	0	ENST00000230588.4:c.810T>C	p.Thr270=	p.T270=	ENST00000230588	NM_005588.2	270	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4918.1	810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACTTTTGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50060,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000230588	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000230588	Transcript	.	.	ENSG00000112818	7015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEP1A_HUMAN	MEP1A	HGNC	.	.	UPI000006E4E9	SNV	MEP1A,synonymous_variant,p.%3D,ENST00000230588,;	819	45	85	SUCCESS
PKHD1	5314	.	GRCh37	6	51889983	51889983	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	67	0	ENST00000371117.3:c.4625A>C	p.Asp1542Ala	p.D1542A	ENST00000371117	NM_138694.3	1542	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS4935.1	4625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTCTCTT	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10	.	.	ENSP00000360158	.	32/67	.	.	.	.	.	.	.	.	.	32/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.93)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Asp1542Ala,ENST00000340994,;PKHD1,missense_variant,p.Asp1542Ala,ENST00000371117,;	4901	67	82	SUCCESS
GSTA4	2941	.	GRCh37	6	52850272	52850272	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	88	0	ENST00000370959.1:c.249C>A	p.Gly83=	p.G83=	ENST00000370959		83	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4948.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGCCAAA	NONE	.	.	Prints_domain:PR01266,Superfamily_domains:SSF47616,Gene3D:3.40.30.10,hmmpanther:PTHR11571:SF123,hmmpanther:PTHR11571,PROSITE_profiles:PS50404	.	.	ENSP00000360002	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000370963	Transcript	.	.	ENSG00000170899	4629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTA4_HUMAN	GSTA4	HGNC	Q6P4G1_HUMAN,Q5JW88_HUMAN,B3KNR3_HUMAN	.	UPI00001119FD	SNV	GSTA4,splice_donor_variant,,ENST00000541324,;GSTA4,synonymous_variant,p.%3D,ENST00000370963,;GSTA4,synonymous_variant,p.%3D,ENST00000370959,;GSTA4,intron_variant,,ENST00000370960,;GSTA4,intron_variant,,ENST00000457564,;GSTA4,non_coding_transcript_exon_variant,,ENST00000486559,;GSTA4,intron_variant,,ENST00000477599,;	397	88	110	SUCCESS
DST	667	.	GRCh37	6	56401645	56401645	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780046868	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	50	0	ENST00000244364.6:c.8833A>G	p.Thr2945Ala	p.T2945A	ENST00000244364	NM_015548.4	2945	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47443.1	8833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAGTGCTTT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	43/84	.	.	.	.	.	.	.	.	rs780046868	43/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Thr5033Ala,ENST00000446842,;DST,missense_variant,p.Thr3271Ala,ENST00000370788,;DST,missense_variant,p.Thr2945Ala,ENST00000244364,;DST,missense_variant,p.Thr5537Ala,ENST00000370754,;DST,missense_variant,p.Thr5357Ala,ENST00000361203,;DST,missense_variant,p.Thr5359Ala,ENST00000370769,;DST,missense_variant,p.Thr3271Ala,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,non_coding_transcript_exon_variant,,ENST00000340834,;DST,non_coding_transcript_exon_variant,,ENST00000524186,;	9041	50	91	SUCCESS
NT5E	4907	.	GRCh37	6	86194984	86194984	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	49	0	ENST00000257770.3:c.783G>T	p.Gly261=	p.G261=	ENST00000257770	NM_002526.3	261	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5002.1	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGAAGTA	NONE	.	.	Superfamily_domains:SSF56300,Gene3D:3.60.21.10,hmmpanther:PTHR11575:SF21,hmmpanther:PTHR11575	.	.	ENSP00000257770	.	4/9	.	.	.	.	.	.	.	.	COSM167841	4/9	PASS	ENST00000257770	Transcript	.	.	ENSG00000135318	8021	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	5NTD_HUMAN	NT5E	HGNC	.	.	UPI0000124F48	SNV	NT5E,synonymous_variant,p.%3D,ENST00000416334,;NT5E,synonymous_variant,p.%3D,ENST00000369651,;NT5E,synonymous_variant,p.%3D,ENST00000257770,;NT5E,upstream_gene_variant,,ENST00000437581,;	832	49	62	SUCCESS
AKIRIN2	55122	.	GRCh37	6	88387595	88387595	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	46	0	ENST00000257787.5:c.470A>C	p.Lys157Thr	p.K157T	ENST00000257787	NM_018064.3	157	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS5013.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTTCAAC	NONE	.	.	hmmpanther:PTHR13293,hmmpanther:PTHR13293:SF8,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000257787	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000257787	Transcript	.	.	ENSG00000135334	21407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0)	.	AKIR2_HUMAN	AKIRIN2	HGNC	Q9NW35_HUMAN	.	UPI000006D634	SNV	AKIRIN2,missense_variant,p.Lys157Thr,ENST00000257787,;	995	46	80	SUCCESS
AGFG2	3268	.	GRCh37	7	100148104	100148104	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	54	0	ENST00000300176.4:c.401T>C	p.Phe134Ser	p.F134S	ENST00000300176	NM_006076.4	134	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS5697.1	401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTTTCTCC	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF233,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863	.	.	ENSP00000300176	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000300176	Transcript	.	.	ENSG00000106351	5177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AGFG2_HUMAN	AGFG2	HGNC	A4D2D6_HUMAN	.	UPI000003E7D5	SNV	AGFG2,missense_variant,p.Phe134Ser,ENST00000262935,;AGFG2,missense_variant,p.Phe134Ser,ENST00000300176,;AGFG2,non_coding_transcript_exon_variant,,ENST00000474713,;AGFG2,missense_variant,p.Phe134Ser,ENST00000430857,;AGFG2,non_coding_transcript_exon_variant,,ENST00000477022,;	523	54	67	SUCCESS
PIK3CG	5294	.	GRCh37	7	106509371	106509371	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	72	0	ENST00000359195.3:c.1365G>C	p.Lys455Asn	p.K455N	ENST00000359195	NM_002649.2	455	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS5739.1	1365	MUTECT|MUSE	.	TCCAAGGGCAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Pfam_domain:PF00792,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000352121	.	2/11	.	.	.	.	.	.	.	.	COSM1330193,COSM1083792	2/11	PASS	ENST00000359195	Transcript	.	.	ENSG00000105851	8978	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.487)	.	deleterious(0.03)	1,1	PK3CG_HUMAN	PIK3CG	HGNC	Q24M88_HUMAN,E9PDN7_HUMAN	.	UPI00000746B8	SNV	PIK3CG,missense_variant,p.Lys455Asn,ENST00000496166,;PIK3CG,missense_variant,p.Lys455Asn,ENST00000359195,;PIK3CG,missense_variant,p.Lys455Asn,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	1675	72	85	SUCCESS
TMEM229A	730130	.	GRCh37	7	123672482	123672482	+	synonymous_variant	Silent	SNP	C	C	T	rs959861813	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	48	1	ENST00000455783.1:c.576G>A	p.Gln192=	p.Q192=	ENST00000455783	NM_001136002.1	192	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS47694.1	576	MUTECT|MUSE	.	TGCTGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1jfwA00,hmmpanther:PTHR31746,hmmpanther:PTHR31746:SF2	.	.	ENSP00000395244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000455783	Transcript	.	.	ENSG00000234224	37279	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T229A_HUMAN	TMEM229A	HGNC	.	.	UPI0001823FDC	SNV	TMEM229A,synonymous_variant,p.%3D,ENST00000455783,;RP5-921G16.1,intron_variant,,ENST00000484322,;RP4-630C24.3,downstream_gene_variant,,ENST00000472838,;	1042	49	39	SUCCESS
CALU	813	.	GRCh37	7	128394594	128394594	+	intron_variant	Intron	SNP	A	A	G	rs748187816	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	54	118	0	ENST00000249364.4:c.415+85A>G		p.*139*	ENST00000249364	NM_001219.4	86		0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS56507.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGATAAAA	NONE	byFrequency	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10827:SF34,hmmpanther:PTHR10827,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000438248	.	4/8	.	.	.	.	.	.	.	.	rs748187816	4/8	PASS	ENST00000542996	Transcript	.	.	ENSG00000128595	1458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.07)	.	CALU_HUMAN	CALU	HGNC	.	.	UPI0001D27CDB	SNV	CALU,missense_variant,p.Asp78Gly,ENST00000449187,;CALU,missense_variant,p.Asp86Gly,ENST00000542996,;CALU,3_prime_UTR_variant,,ENST00000535623,;CALU,intron_variant,,ENST00000479257,;CALU,intron_variant,,ENST00000538546,;CALU,intron_variant,,ENST00000249364,;CALU,intron_variant,,ENST00000535011,;CALU,upstream_gene_variant,,ENST00000493278,;	1200	118	180	SUCCESS
HDAC9	9734	.	GRCh37	7	18687484	18687484	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1374851928	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	63	0	ENST00000432645.2:c.1103A>G	p.Tyr368Cys	p.Y368C	ENST00000432645	NM_058176.2	368	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS47553.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTATGGAG	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	tolerated(0.07)	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Tyr327Cys,ENST00000401921,;HDAC9,missense_variant,p.Tyr368Cys,ENST00000405010,;HDAC9,missense_variant,p.Tyr324Cys,ENST00000428307,;HDAC9,missense_variant,p.Tyr371Cys,ENST00000441542,;HDAC9,missense_variant,p.Tyr366Cys,ENST00000417496,;HDAC9,missense_variant,p.Tyr355Cys,ENST00000406072,;HDAC9,missense_variant,p.Tyr368Cys,ENST00000406451,;HDAC9,missense_variant,p.Tyr340Cys,ENST00000456174,;HDAC9,missense_variant,p.Tyr368Cys,ENST00000432645,;HDAC9,missense_variant,p.Tyr291Cys,ENST00000524023,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1112	63	99	SUCCESS
STK31	56164	.	GRCh37	7	23776654	23776654	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	27	0	ENST00000355870.3:c.974A>G	p.Lys325Arg	p.K325R	ENST00000355870	NM_031414.4	325	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5386.1	974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATAAGGCGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12302:SF0,hmmpanther:PTHR12302	.	.	ENSP00000348132	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000355870	Transcript	.	.	ENSG00000196335	11407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	tolerated(0.14)	.	STK31_HUMAN	STK31	HGNC	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN	.	UPI0000167B73	SNV	STK31,missense_variant,p.Lys325Arg,ENST00000355870,;STK31,missense_variant,p.Lys302Arg,ENST00000354639,;STK31,missense_variant,p.Lys302Arg,ENST00000428484,;STK31,missense_variant,p.Lys325Arg,ENST00000433467,;STK31,downstream_gene_variant,,ENST00000456014,;STK31,downstream_gene_variant,,ENST00000422637,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,intron_variant,,ENST00000529549,;STK31,downstream_gene_variant,,ENST00000528479,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;	1093	27	29	SUCCESS
ZNF679	168417	.	GRCh37	7	63720639	63720639	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	46	99	0	ENST00000255746.4:c.80T>A	p.Leu27Gln	p.L27Q	ENST00000255746	NM_001159524.1	27	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS47592.1	80	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTGGAGG	BUFFER|p.F25L|c.75C>A|3	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000416809	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000421025	Transcript	.	.	ENSG00000197123	28650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	tolerated(0.05)	.	ZN679_HUMAN	ZNF679	HGNC	.	.	UPI000045756A	SNV	ZNF679,missense_variant,p.Leu27Gln,ENST00000255746,;ZNF679,missense_variant,p.Leu27Gln,ENST00000421025,;	349	99	157	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72667582	72667582	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	605	178	534	0	ENST00000425256.1:n.690A>G		p.*230*	ENST00000425256				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGATGTTAA	NONE	.	.	.	.	.	.	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000449689,;	690	534	783	SUCCESS
RHBDD2	57414	.	GRCh37	7	75508314	75508314	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs561972459	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	14	0	ENST00000006777.6:c.-87G>A		p.*29*	ENST00000006777	NM_001040456.1			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS43602.1	.	MUSE|VARSCANS	.	CTGCTGTTGCC	NONE	by1000G	.	.	A:0.001	.	ENSP00000006777	A:0	1/4	.	.	.	.	.	.	.	.	rs561972459	1/4	PASS	ENST00000006777	Transcript	.	A:0.0002	ENSG00000005486	23082	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	RHBD2_HUMAN	RHBDD2	HGNC	.	.	UPI0000072213	SNV	RHBDD2,5_prime_UTR_variant,,ENST00000006777,;RHBDD2,upstream_gene_variant,,ENST00000318622,;RHBDD2,upstream_gene_variant,,ENST00000428119,;RHBDD2,intron_variant,,ENST00000468644,;RHBDD2,intron_variant,,ENST00000466232,;RHBDD2,upstream_gene_variant,,ENST00000476218,;RHBDD2,upstream_gene_variant,,ENST00000467406,;RHBDD2,upstream_gene_variant,,ENST00000468304,;RHBDD2,upstream_gene_variant,,ENST00000454791,;	49	14	26	SUCCESS
HGF	3082	.	GRCh37	7	81350161	81350197	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AATCTAGACATAAAATATACAGAAATAAGTCCAATGA	AATCTAGACATAAAATATACAGAAATAAGTCCAATGA	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	AATCTAGACATAAAATATACAGAAATAAGTCCAATGA	AATCTAGACATAAAATATACAGAAATAAGTCCAATGA	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	35	0	ENST00000222390.5:c.1169-34_1171del		p.X390_splice	ENST00000222390	NM_000601.4	390		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5597.1	?-1171	INDELOCATOR*|VARSCANI*|PINDEL	.	GATAACAATCTAGACATAAAATATACAGAAATAAGTCCAATGAATATC	NONE	.	.	.	.	.	ENSP00000222390	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	HIGH	9/17	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	deletion	HGF,splice_acceptor_variant,,ENST00000457544,;HGF,splice_acceptor_variant,,ENST00000222390,;	?-1398	35	65	SUCCESS
CASD1	64921	.	GRCh37	7	94164696	94164696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	5	95	0	ENST00000297273.4:c.704C>A	p.Ala235Asp	p.A235D	ENST00000297273	NM_022900.4	235	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS5636.1	704	MUTECT|MUSE	.	TGAAGCTGCAG	NONE	.	.	hmmpanther:PTHR13533:SF8,hmmpanther:PTHR13533,Pfam_domain:PF13839	.	.	ENSP00000297273	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000297273	Transcript	.	.	ENSG00000127995	16014	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.561)	.	deleterious(0)	.	CASD1_HUMAN	CASD1	HGNC	C9JDR3_HUMAN	.	UPI0000070404	SNV	CASD1,missense_variant,p.Ala235Asp,ENST00000297273,;CASD1,downstream_gene_variant,,ENST00000447923,;CASD1,3_prime_UTR_variant,,ENST00000443644,;	991	95	146	SUCCESS
ARPC1B	10095	.	GRCh37	7	98985732	98985732	+	synonymous_variant	Silent	SNP	G	G	A	rs373569413	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	41	145	0	ENST00000252725.5:c.240G>A	p.Thr80=	p.T80=	ENST00000252725	NM_005720.3	80	acG/acA	0	A:0	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS5661.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACGCTGAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10709,hmmpanther:PTHR10709:SF10,Gene3D:2.130.10.10,PIRSF_domain:PIRSF038093,SMART_domains:SM00320,Superfamily_domains:SSF50978	A:0	A:0.0001	ENSP00000389631	A:0	6/12	.	.	.	.	.	.	.	.	rs373569413	6/12	PASS	ENST00000451682	Transcript	.	A:0.0002	ENSG00000130429	704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	ARC1B_HUMAN	ARPC1B	HGNC	F8VXW2_HUMAN,C9K057_HUMAN,C9JTT6_HUMAN,C9JQM8_HUMAN,C9JM51_HUMAN,C9JFG9_HUMAN,C9JEY1_HUMAN,C9JBJ7_HUMAN,C9J6C8_HUMAN,C9J4Z7_HUMAN,A4D275_HUMAN	.	UPI0000125D33	SNV	ARPC1B,synonymous_variant,p.%3D,ENST00000431816,;ARPC1B,synonymous_variant,p.%3D,ENST00000451682,;ARPC1B,synonymous_variant,p.%3D,ENST00000443222,;ARPC1B,synonymous_variant,p.%3D,ENST00000414376,;ARPC1B,synonymous_variant,p.%3D,ENST00000417330,;ARPC1B,synonymous_variant,p.%3D,ENST00000252725,;ARPC1B,synonymous_variant,p.%3D,ENST00000418347,;ARPC1B,synonymous_variant,p.%3D,ENST00000427217,;ARPC1B,synonymous_variant,p.%3D,ENST00000458033,;ARPC1B,synonymous_variant,p.%3D,ENST00000455009,;ARPC1A,3_prime_UTR_variant,,ENST00000432884,;ARPC1B,downstream_gene_variant,,ENST00000429246,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000493403,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000474880,;PDAP1,downstream_gene_variant,,ENST00000496335,;ARPC1B,synonymous_variant,p.%3D,ENST00000432343,;ARPC1A,3_prime_UTR_variant,,ENST00000441989,;ARPC1B,3_prime_UTR_variant,,ENST00000445924,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484375,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484600,;ARPC1B,upstream_gene_variant,,ENST00000491294,;ARPC1B,upstream_gene_variant,,ENST00000468337,;ARPC1B,upstream_gene_variant,,ENST00000481997,;	549	145	136	SUCCESS
ZNF706	51123	.	GRCh37	8	102213861	102213861	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	49	0	ENST00000311212.4:c.109T>G	p.Leu37Val	p.L37V	ENST00000311212	NM_016096.3	37	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6291.1	109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTAAGGCAG	NONE	.	.	hmmpanther:PTHR21213,hmmpanther:PTHR21213:SF1,Gene3D:1wvkA00,Pfam_domain:PF04419,Superfamily_domains:0050724	.	.	ENSP00000430823	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000520347	Transcript	.	.	ENSG00000120963	24992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	ZN706_HUMAN	ZNF706	HGNC	E5RIY7_HUMAN	.	UPI0000026489	SNV	ZNF706,missense_variant,p.Leu37Val,ENST00000311212,;ZNF706,missense_variant,p.Leu37Val,ENST00000519744,;ZNF706,missense_variant,p.Leu37Val,ENST00000521272,;ZNF706,missense_variant,p.Leu37Val,ENST00000523922,;ZNF706,missense_variant,p.Leu37Val,ENST00000517844,;ZNF706,missense_variant,p.Leu37Val,ENST00000520984,;ZNF706,missense_variant,p.Leu9Val,ENST00000519103,;ZNF706,missense_variant,p.Leu37Val,ENST00000519882,;ZNF706,missense_variant,p.Leu37Val,ENST00000520347,;ZNF706,missense_variant,p.Leu37Val,ENST00000518336,;ZNF706,downstream_gene_variant,,ENST00000520454,;ZNF706,missense_variant,p.Leu37Val,ENST00000523146,;ZNF706,non_coding_transcript_exon_variant,,ENST00000519916,;ZNF706,upstream_gene_variant,,ENST00000518071,;ZNF706,upstream_gene_variant,,ENST00000520498,;	3066	49	58	SUCCESS
ODF1	4956	.	GRCh37	8	103573092	103573092	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	29	0	ENST00000285402.3:c.733T>A	p.Cys245Ser	p.C245S	ENST00000285402	NM_024410.3	245	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS6293.1	733	MUTECT|MUSE	.	TTTCCTGTAGG	BUFFER|p.R242Q|c.725G>A|3	.	.	.	.	.	ENSP00000285402	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000285402	Transcript	.	.	ENSG00000155087	8113	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.152)	.	deleterious_low_confidence(0)	.	ODFP1_HUMAN	ODF1	HGNC	.	.	UPI000013DDEA	SNV	ODF1,missense_variant,p.Cys245Ser,ENST00000285402,;ODF1,missense_variant,p.Cys38Ser,ENST00000518835,;	889	29	52	SUCCESS
ATP6V1C1	528	.	GRCh37	8	104065039	104065039	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	35	0	ENST00000395862.3:c.462A>G	p.Glu154=	p.E154=	ENST00000395862	NM_001695.4	154	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS6296.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAACGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10137:SF3,hmmpanther:PTHR10137,Pfam_domain:PF03223,Gene3D:1u7lA02,Superfamily_domains:0049812	.	.	ENSP00000379203	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000395862	Transcript	.	.	ENSG00000155097	856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VATC1_HUMAN	ATP6V1C1	HGNC	E7EV59_HUMAN	.	UPI0000049C2A	SNV	ATP6V1C1,synonymous_variant,p.%3D,ENST00000521514,;ATP6V1C1,synonymous_variant,p.%3D,ENST00000518857,;ATP6V1C1,synonymous_variant,p.%3D,ENST00000518738,;ATP6V1C1,synonymous_variant,p.%3D,ENST00000395862,;ATP6V1C1,non_coding_transcript_exon_variant,,ENST00000521671,;	621	35	61	SUCCESS
LRP12	29967	.	GRCh37	8	105601171	105601171	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	9	92	0	ENST00000276654.5:c.-46T>A		p.*16*	ENST00000276654	NM_013437.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6303.1	.	MUTECT|MUSE|VARSCANS	.	GAGGGAGGAGA	NONE	.	.	.	.	.	ENSP00000276654	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,5_prime_UTR_variant,,ENST00000276654,;LRP12,5_prime_UTR_variant,,ENST00000424843,;RP11-127H5.1,upstream_gene_variant,,ENST00000521923,;LRP12,non_coding_transcript_exon_variant,,ENST00000520770,;LRP12,non_coding_transcript_exon_variant,,ENST00000519675,;	64	92	106	SUCCESS
KLHL38	340359	.	GRCh37	8	124664885	124664885	+	synonymous_variant	Silent	SNP	C	C	T	rs1253431137	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	27	76	0	ENST00000325995.7:c.282G>A	p.Thr94=	p.T94=	ENST00000325995	NM_001081675.2	94	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43766.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCGTATA	NONE	.	.	Superfamily_domains:SSF54695,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412,PROSITE_profiles:PS50097	.	.	ENSP00000321475	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000325995	Transcript	.	.	ENSG00000175946	34435	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH38_HUMAN	KLHL38	HGNC	.	.	UPI00001D82D1	SNV	KLHL38,synonymous_variant,p.%3D,ENST00000325995,;CTD-2552K11.2,intron_variant,,ENST00000524355,;	306	76	102	SUCCESS
HHLA1	10086	.	GRCh37	8	133099901	133099901	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	29	63	0	ENST00000414222.1:c.675G>C		p.X225_splice	ENST00000414222	NM_001145095.1	225	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	.	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCAGAAC	NONE	.	.	hmmpanther:PTHR15299	.	.	ENSP00000407107	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000434736	Transcript	.	.	ENSG00000132297	4904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HHLA1	HGNC	C9JY47_HUMAN	.	UPI00021CEF49	SNV	HHLA1,synonymous_variant,p.%3D,ENST00000434736,;HHLA1,synonymous_variant,p.%3D,ENST00000414222,;OC90,upstream_gene_variant,,ENST00000262283,;	869	63	135	SUCCESS
ZNF7	7553	.	GRCh37	8	146068016	146068016	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	60	43	0	ENST00000528372.1:c.1524G>C	p.Gln508His	p.Q508H	ENST00000528372		508	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS6435.1	1524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAGAGTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.2)	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,missense_variant,p.Gln508His,ENST00000528372,;ZNF7,missense_variant,p.Gln519His,ENST00000446747,;ZNF7,missense_variant,p.Gln508His,ENST00000325241,;ZNF7,missense_variant,p.Gln412His,ENST00000544249,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	1764	43	122	SUCCESS
STC1	6781	.	GRCh37	8	23712266	23712266	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000290271.2:c.-230A>G		p.*77*	ENST00000290271	NM_003155.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6043.1	.	MUTECT|MUSE	.	GCCGCTGCTGC	NONE	.	.	.	.	.	ENSP00000290271	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000290271	Transcript	.	.	ENSG00000159167	11373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STC1_HUMAN	STC1	HGNC	Q71UE5_HUMAN,B4DN22_HUMAN	.	UPI00001360B4	SNV	STC1,5_prime_UTR_variant,,ENST00000290271,;STC1,upstream_gene_variant,,ENST00000524323,;	55	11	9	SUCCESS
TTI2	80185	.	GRCh37	8	33361357	33361357	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	50	0	ENST00000360742.5:c.1024G>T	p.Val342Phe	p.V342F	ENST00000360742	NM_025115.3	342	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS6090.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACCTCAT	NONE	.	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1,Pfam_domain:PF10521,Superfamily_domains:SSF48371	.	.	ENSP00000411169	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,missense_variant,p.Val342Phe,ENST00000431156,;TTI2,missense_variant,p.Val311Phe,ENST00000520636,;TTI2,missense_variant,p.Val342Phe,ENST00000360742,;MAK16,downstream_gene_variant,,ENST00000360128,;TTI2,non_coding_transcript_exon_variant,,ENST00000519356,;	1643	50	43	SUCCESS
UNC5D	137970	.	GRCh37	8	35579903	35579903	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	62	0	ENST00000404895.2:c.1293A>T	p.Thr431=	p.T431=	ENST00000404895	NM_080872.2	431	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6093.2	1293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACAGTCCG	NONE	.	.	hmmpanther:PTHR12582:SF5,hmmpanther:PTHR12582	.	.	ENSP00000385143	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,synonymous_variant,p.%3D,ENST00000453357,;UNC5D,synonymous_variant,p.%3D,ENST00000416672,;UNC5D,synonymous_variant,p.%3D,ENST00000404895,;UNC5D,synonymous_variant,p.%3D,ENST00000420357,;UNC5D,intron_variant,,ENST00000287272,;UNC5D,upstream_gene_variant,,ENST00000449677,;UNC5D,non_coding_transcript_exon_variant,,ENST00000474634,;	1621	62	38	SUCCESS
CHD7	55636	.	GRCh37	8	61736580	61736580	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	rs1554598029	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	27	0	ENST00000423902.2:c.3378+5G>T		p.X1126_splice	ENST00000423902	NM_017780.3	1126		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47865.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGTGACC	NONE	.	.	.	.	.	ENSP00000392028	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	LOW	13/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,missense_variant,p.Ser1128Ile,ENST00000525508,;CHD7,splice_region_variant,,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;	.	27	50	SUCCESS
IMPA1	3612	.	GRCh37	8	82598039	82598046	+	intron_variant	Intron	DEL	CTGTTTCT	CTGTTTCT	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	CTGTTTCT	CTGTTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	163	54	171	0	ENST00000256108.5:c.-25+441_-25+448del		p.*9*	ENST00000256108	NM_005536.3	35		0	.	.	.	.	.	-	TETA/TX	protein_coding	YES	CCDS47883.1	105-112	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTGCTGTTTCTGTCCT	NONE	.	.	hmmpanther:PTHR20854:SF26,hmmpanther:PTHR20854	.	.	ENSP00000408526	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000449740	Transcript	.	.	ENSG00000133731	6050	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IMPA1_HUMAN	IMPA1	HGNC	E5RGY4_HUMAN,E5RG94_HUMAN	.	UPI000192950E	deletion	IMPA1,frameshift_variant,p.Glu9ArgfsTer17,ENST00000523942,;IMPA1,frameshift_variant,p.Glu36ArgfsTer24,ENST00000522997,;IMPA1,frameshift_variant,p.Glu36ArgfsTer24,ENST00000449740,;IMPA1,intron_variant,,ENST00000518202,;IMPA1,intron_variant,,ENST00000311489,;IMPA1,intron_variant,,ENST00000521360,;IMPA1,intron_variant,,ENST00000256108,;IMPA1,intron_variant,,ENST00000519964,;IMPA1,intron_variant,,ENST00000523710,;IMPA1,intron_variant,,ENST00000519816,;IMPA1,intron_variant,,ENST00000518188,;IMPA1,intron_variant,,ENST00000521979,;	185-192	171	217	SUCCESS
INTS8	55656	.	GRCh37	8	95884163	95884163	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	38	0	ENST00000523731.1:c.2466T>G	p.Val822=	p.V822=	ENST00000523731	NM_017864.3	822	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS34925.1	2466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGTTCGATA	NONE	.	.	hmmpanther:PTHR13350,Superfamily_domains:SSF48452	.	.	ENSP00000430338	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,synonymous_variant,p.%3D,ENST00000520526,;INTS8,synonymous_variant,p.%3D,ENST00000447247,;INTS8,synonymous_variant,p.%3D,ENST00000523731,;INTS8,downstream_gene_variant,,ENST00000520845,;INTS8,downstream_gene_variant,,ENST00000517918,;INTS8,3_prime_UTR_variant,,ENST00000343161,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,non_coding_transcript_exon_variant,,ENST00000521155,;INTS8,non_coding_transcript_exon_variant,,ENST00000519736,;INTS8,non_coding_transcript_exon_variant,,ENST00000523352,;INTS8,downstream_gene_variant,,ENST00000520315,;INTS8,upstream_gene_variant,,ENST00000523998,;INTS8,downstream_gene_variant,,ENST00000522261,;	2599	38	72	SUCCESS
SLC44A1	23446	.	GRCh37	9	108061522	108061522	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	33	0	ENST00000374720.3:c.58C>A	p.Pro20Thr	p.P20T	ENST00000374720	NM_080546.3	20	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS6763.1	58	MUTECT|MUSE	.	GGAAGCCGCTG	NONE	.	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF35	.	.	ENSP00000363852	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000374720	Transcript	.	.	ENSG00000070214	18798	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	CTL1_HUMAN	SLC44A1	HGNC	B3KMS7_HUMAN	.	UPI0000062328	SNV	SLC44A1,missense_variant,p.Pro20Thr,ENST00000374720,;SLC44A1,missense_variant,p.Pro20Thr,ENST00000374724,;SLC44A1,missense_variant,p.Pro20Thr,ENST00000374723,;SLC44A1,non_coding_transcript_exon_variant,,ENST00000607692,;SLC44A1,missense_variant,p.Pro20Thr,ENST00000470972,;	305	33	56	SUCCESS
CBWD1	55871	.	GRCh37	9	122027	122027	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	241	22	155	0	ENST00000356521.4:c.1015G>T	p.Asp339Tyr	p.D339Y	ENST00000356521	NM_018491.3	339	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6438.1	1015	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCATAGA	NONE	.	.	hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF38,Gene3D:1nijA02,Pfam_domain:PF07683,Superfamily_domains:0041413	.	.	ENSP00000348915	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000356521	Transcript	.	.	ENSG00000172785	17134	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CBWD1_HUMAN	CBWD1	HGNC	.	.	UPI000006EFDF	SNV	CBWD1,missense_variant,p.Asp320Tyr,ENST00000382447,;CBWD1,missense_variant,p.Asp303Tyr,ENST00000314367,;CBWD1,missense_variant,p.Asp291Tyr,ENST00000377400,;CBWD1,missense_variant,p.Asp339Tyr,ENST00000356521,;FOXD4,upstream_gene_variant,,ENST00000382500,;CBWD1,non_coding_transcript_exon_variant,,ENST00000475411,;CBWD1,non_coding_transcript_exon_variant,,ENST00000465014,;CBWD1,non_coding_transcript_exon_variant,,ENST00000475990,;CBWD1,non_coding_transcript_exon_variant,,ENST00000487575,;CBWD1,non_coding_transcript_exon_variant,,ENST00000464198,;CBWD1,non_coding_transcript_exon_variant,,ENST00000462513,;CBWD1,non_coding_transcript_exon_variant,,ENST00000495302,;	1104	155	264	SUCCESS
FNBP1	23048	.	GRCh37	9	132687236	132687236	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	95	0	ENST00000446176.2:c.987+3A>T		p.X329_splice	ENST00000446176	NM_015033.2	329		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48040.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGTACCTT	NONE	.	.	.	.	.	ENSP00000413625	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446176	Transcript	.	.	ENSG00000187239	17069	.	.	LOW	9/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FNBP1_HUMAN	FNBP1	HGNC	B7ZL12_HUMAN	.	UPI000022408C	SNV	FNBP1,splice_region_variant,,ENST00000355681,;FNBP1,splice_region_variant,,ENST00000449089,;FNBP1,splice_region_variant,,ENST00000420781,;FNBP1,splice_region_variant,,ENST00000446176,;FNBP1,splice_region_variant,,ENST00000478129,;FNBP1,splice_region_variant,,ENST00000482107,;	.	95	101	SUCCESS
FIBCD1	84929	.	GRCh37	9	133799206	133799206	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	102	0	ENST00000372338.4:c.774C>T	p.Tyr258=	p.Y258=	ENST00000372338	NM_032843.4	258	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6937.1	774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGTAGAC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF45,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000361413	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000372338	Transcript	.	.	ENSG00000130720	25922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBCD1_HUMAN	FIBCD1	HGNC	A7YSM1_HUMAN,A3KFJ8_HUMAN	.	UPI0000049DF9	SNV	FIBCD1,synonymous_variant,p.%3D,ENST00000451466,;FIBCD1,synonymous_variant,p.%3D,ENST00000448616,;FIBCD1,synonymous_variant,p.%3D,ENST00000372337,;FIBCD1,synonymous_variant,p.%3D,ENST00000372338,;FIBCD1,synonymous_variant,p.%3D,ENST00000444139,;FIBCD1,synonymous_variant,p.%3D,ENST00000253018,;	1017	102	116	SUCCESS
REXO4	57109	.	GRCh37	9	136280068	136280068	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	42	1	ENST00000371942.3:c.289A>T	p.Lys97Ter	p.K97*	ENST00000371942	NM_001279350.1	97	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS6969.1	289	SOMATICSNIPER|MUTECT|VARSCANS	.	CTTTTTGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF49	.	.	ENSP00000361010	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000371942	Transcript	.	.	ENSG00000148300	12820	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REXO4_HUMAN	REXO4	HGNC	B4E331_HUMAN,B4DJ95_HUMAN	.	UPI00000373DC	SNV	REXO4,stop_gained,p.Lys4Ter,ENST00000445916,;REXO4,stop_gained,p.Lys97Ter,ENST00000371942,;REXO4,intron_variant,,ENST00000371935,;REXO4,intron_variant,,ENST00000454825,;ADAMTS13,intron_variant,,ENST00000485925,;REXO4,intron_variant,,ENST00000478037,;REXO4,intron_variant,,ENST00000494045,;	489	43	48	SUCCESS
TMEM203	94107	.	GRCh37	9	140099879	140099879	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs779700122	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	80	0	ENST00000343666.5:c.-13C>G		p.*5*	ENST00000343666	NM_053045.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35185.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGCGCGG	NONE	.	.	.	.	.	ENSP00000375053	.	1/1	.	.	.	.	.	.	.	.	rs779700122	1/1	PASS	ENST00000343666	Transcript	.	.	ENSG00000187713	28217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM203_HUMAN	TMEM203	HGNC	.	.	UPI000006E3D0	SNV	TMEM203,5_prime_UTR_variant,,ENST00000537254,;TMEM203,5_prime_UTR_variant,,ENST00000343666,;NDOR1,upstream_gene_variant,,ENST00000427047,;NDOR1,upstream_gene_variant,,ENST00000458322,;TPRN,upstream_gene_variant,,ENST00000409012,;TPRN,upstream_gene_variant,,ENST00000321773,;NDOR1,upstream_gene_variant,,ENST00000371521,;NDOR1,upstream_gene_variant,,ENST00000344894,;TPRN,upstream_gene_variant,,ENST00000541945,;	212	80	77	SUCCESS
UBAP2	55833	.	GRCh37	9	33948698	33948698	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	14	0	ENST00000360802.1:c.1057-113T>C		p.*353*	ENST00000360802	NM_018449.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6547.1	.	MUTECT|MUSE	.	AACATATGAAT	NONE	.	.	.	.	.	ENSP00000368540	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	MODIFIER	12/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,5_prime_UTR_variant,,ENST00000379225,;UBAP2,intron_variant,,ENST00000379238,;UBAP2,intron_variant,,ENST00000379239,;UBAP2,intron_variant,,ENST00000418786,;UBAP2,intron_variant,,ENST00000421278,;UBAP2,intron_variant,,ENST00000449054,;UBAP2,intron_variant,,ENST00000412543,;UBAP2,intron_variant,,ENST00000539807,;UBAP2,intron_variant,,ENST00000360802,;SNORD121A,downstream_gene_variant,,ENST00000459386,;UBAP2,intron_variant,,ENST00000462799,;	.	14	34	SUCCESS
DCAF10	79269	.	GRCh37	9	37801305	37801305	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	35	161	0	ENST00000377724.3:c.442A>G	p.Met148Val	p.M148V	ENST00000377724	NM_024345.3	148	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS6613.2	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCATGACT	NONE	.	.	hmmpanther:PTHR14588	.	.	ENSP00000366953	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000377724	Transcript	.	.	ENSG00000122741	23686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.08)	.	DCA10_HUMAN	DCAF10	HGNC	.	.	UPI000046FD58	SNV	DCAF10,missense_variant,p.Met148Val,ENST00000377724,;DCAF10,missense_variant,p.Met148Val,ENST00000242323,;EXOSC3,intron_variant,,ENST00000482614,;EXOSC3,upstream_gene_variant,,ENST00000489414,;RP11-613M10.9,intron_variant,,ENST00000540557,;	807	161	133	SUCCESS
ZNF510	22869	.	GRCh37	9	99521444	99521447	+	frameshift_variant	Frame_Shift_Del	DEL	TTTT	TTTT	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	TTTT	TTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	67	0	ENST00000223428.4:c.1665_1668del	p.Lys556IlefsTer114	p.K556Ifs*114	ENST00000223428	NM_014930.1	555	cgAAAA/cg	0	.	.	.	.	.	-	RK/X	protein_coding	YES	CCDS35074.1	1665-1668	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGATCTTTTCGCCA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24392:SF21,hmmpanther:PTHR24392,PROSITE_profiles:PS50157	.	.	ENSP00000364379	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000375231	Transcript	.	.	ENSG00000081386	29161	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN510_HUMAN	ZNF510	HGNC	Q6NUI8_HUMAN	.	UPI0000139E9E	deletion	ZNF510,frameshift_variant,p.Lys556IlefsTer114,ENST00000375231,;ZNF510,frameshift_variant,p.Lys556IlefsTer114,ENST00000223428,;ZNF510,downstream_gene_variant,,ENST00000374641,;ZNF510,downstream_gene_variant,,ENST00000472201,;	2316-2319	67	82	SUCCESS
ARMCX2	9823	.	GRCh37	X	100912386	100912386	+	synonymous_variant	Silent	SNP	G	G	T	rs782115134	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	39	0	ENST00000328766.5:c.189C>A	p.Ile63=	p.I63=	ENST00000328766	NM_014782.5	63	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS14490.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGATTGT	NONE	byFrequency	.	hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712	.	.	ENSP00000331662	.	5/5	.	.	.	.	.	.	.	.	rs782115134	5/5	PASS	ENST00000328766	Transcript	.	.	ENSG00000184867	16869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX2_HUMAN	ARMCX2	HGNC	Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN	.	UPI0000071305	SNV	ARMCX2,synonymous_variant,p.%3D,ENST00000458024,;ARMCX2,synonymous_variant,p.%3D,ENST00000440675,;ARMCX2,synonymous_variant,p.%3D,ENST00000356824,;ARMCX2,synonymous_variant,p.%3D,ENST00000328766,;ARMCX2,synonymous_variant,p.%3D,ENST00000433318,;ARMCX2,synonymous_variant,p.%3D,ENST00000413506,;ARMCX2,synonymous_variant,p.%3D,ENST00000330154,;ARMCX2,downstream_gene_variant,,ENST00000431597,;ARMCX2,non_coding_transcript_exon_variant,,ENST00000467416,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000479333,;	643	39	37	SUCCESS
WDR44	54521	.	GRCh37	X	117570751	117570751	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	60	59	0	ENST00000254029.3:c.1938T>A	p.His646Gln	p.H646Q	ENST00000254029	NM_019045.4	646	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS14572.1	1938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATATAGA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR14221:SF0,hmmpanther:PTHR14221,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000254029	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000254029	Transcript	.	.	ENSG00000131725	30512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WDR44_HUMAN	WDR44	HGNC	B7Z947_HUMAN	.	UPI000013CE0C	SNV	WDR44,missense_variant,p.His621Gln,ENST00000371822,;WDR44,missense_variant,p.His646Gln,ENST00000371825,;WDR44,missense_variant,p.His546Gln,ENST00000371848,;WDR44,missense_variant,p.His646Gln,ENST00000254029,;	2333	59	98	SUCCESS
TMEM255A	55026	.	GRCh37	X	119410802	119410802	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	52	58	0	ENST00000309720.5:c.685A>T	p.Asn229Tyr	p.N229Y	ENST00000309720	NM_017938.3	229	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS14597.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTTGAGGA	NONE	.	.	Pfam_domain:PF14967,Transmembrane_helices:TMhelix	.	.	ENSP00000310110	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000309720	Transcript	.	.	ENSG00000125355	26086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	T255A_HUMAN	TMEM255A	HGNC	.	.	UPI0000246DA1	SNV	TMEM255A,missense_variant,p.Asn205Tyr,ENST00000371369,;TMEM255A,missense_variant,p.Asn65Tyr,ENST00000371352,;TMEM255A,missense_variant,p.Asn229Tyr,ENST00000309720,;TMEM255A,intron_variant,,ENST00000440464,;TMEM255A,intron_variant,,ENST00000519908,;RP11-45J1.1,downstream_gene_variant,,ENST00000439244,;	809	58	79	SUCCESS
ZNF75D	7626	.	GRCh37	X	134427746	134427746	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	34	0	ENST00000370766.3:c.321C>A	p.Asn107Lys	p.N107K	ENST00000370766	NM_007131.3	107	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS14648.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGTTCTG	NONE	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF43,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000359802	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000370766	Transcript	.	.	ENSG00000186376	13145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.247)	.	deleterious(0.01)	.	ZN75D_HUMAN	ZNF75D	HGNC	.	.	UPI000022DD3A	SNV	ZNF75D,missense_variant,p.Asn107Lys,ENST00000370764,;ZNF75D,missense_variant,p.Asn107Lys,ENST00000370766,;ZNF75D,intron_variant,,ENST00000494295,;ZNF75D,upstream_gene_variant,,ENST00000469456,;	3031	34	72	SUCCESS
IDH3G	3421	.	GRCh37	X	153059831	153059831	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	45	0	ENST00000217901.5:c.-50C>A		p.*17*	ENST00000217901	NM_004135.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14731.1	.	MUTECT|MUSE	.	CTCTCGCGAGA	NONE	.	.	.	.	.	ENSP00000317331	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000320857	Transcript	.	.	ENSG00000180879	11326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SSRD_HUMAN	SSR4	HGNC	.	.	UPI0000136003	SNV	SSR4,5_prime_UTR_variant,,ENST00000320857,;IDH3G,5_prime_UTR_variant,,ENST00000370093,;IDH3G,5_prime_UTR_variant,,ENST00000217901,;IDH3G,5_prime_UTR_variant,,ENST00000370092,;SSR4,intron_variant,,ENST00000370087,;SSR4,upstream_gene_variant,,ENST00000370085,;IDH3G,upstream_gene_variant,,ENST00000444450,;IDH3G,upstream_gene_variant,,ENST00000427365,;SSR4,upstream_gene_variant,,ENST00000370086,;IDH3G,upstream_gene_variant,,ENST00000444338,;SSR4,intron_variant,,ENST00000491833,;IDH3G,upstream_gene_variant,,ENST00000497043,;SSR4,upstream_gene_variant,,ENST00000485612,;SSR4,upstream_gene_variant,,ENST00000471724,;SSR4,upstream_gene_variant,,ENST00000471880,;SSR4,upstream_gene_variant,,ENST00000486204,;IDH3G,upstream_gene_variant,,ENST00000491235,;IDH3G,upstream_gene_variant,,ENST00000495356,;IDH3G,upstream_gene_variant,,ENST00000461215,;SSR4,upstream_gene_variant,,ENST00000482902,;SSR4,upstream_gene_variant,,ENST00000460616,;SSR4,upstream_gene_variant,,ENST00000447375,;	861	45	42	SUCCESS
PHKA2	5256	.	GRCh37	X	18938153	18938153	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	18	0	ENST00000379942.4:c.1960C>G	p.Gln654Glu	p.Q654E	ENST00000379942	NM_000292.2	654	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS14190.1	1960	MUTECT|MUSE	.	ACCTTGATTAC	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5,Pfam_domain:PF00723	.	.	ENSP00000369274	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000379942	Transcript	.	.	ENSG00000044446	8926	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	KPB2_HUMAN	PHKA2	HGNC	.	.	UPI000012DF4B	SNV	PHKA2,missense_variant,p.Gln654Glu,ENST00000379942,;RN7SL48P,upstream_gene_variant,,ENST00000579283,;PHKA2,downstream_gene_variant,,ENST00000464455,;	2626	18	35	SUCCESS
SAT1	6303	.	GRCh37	X	23802253	23802253	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	20	22	0	ENST00000379270.4:c.202+253T>G		p.*68*	ENST00000379270	NM_002970.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14207.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTTAAGT	NONE	.	.	.	.	.	ENSP00000368572	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379270	Transcript	.	.	ENSG00000130066	10540	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAT1_HUMAN	SAT1	HGNC	Q6ICU9_HUMAN,A2VED4_HUMAN	.	UPI000012621E	SNV	SAT1,3_prime_UTR_variant,,ENST00000379253,;SAT1,3_prime_UTR_variant,,ENST00000379251,;SAT1,intron_variant,,ENST00000379254,;SAT1,intron_variant,,ENST00000379270,;Y_RNA,downstream_gene_variant,,ENST00000365402,;RP13-314C10.5,upstream_gene_variant,,ENST00000366134,;SAT1,intron_variant,,ENST00000489394,;SAT1,intron_variant,,ENST00000463236,;SAT1,upstream_gene_variant,,ENST00000462639,;SAT1,upstream_gene_variant,,ENST00000474223,;SAT1,downstream_gene_variant,,ENST00000487713,;	.	22	29	SUCCESS
DMD	1756	.	GRCh37	X	31366711	31366711	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs398124080	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	148	110	0	ENST00000357033.4:c.9125A>C	p.His3042Pro	p.H3042P	ENST00000357033	NM_004007.2	3042	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS14233.1	9125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CCCTGTGGGCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	61/79	.	.	.	.	.	.	.	.	rs398124080	61/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.402)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.His3042Pro,ENST00000357033,;DMD,missense_variant,p.His738Pro,ENST00000358062,;DMD,missense_variant,p.His582Pro,ENST00000343523,;DMD,missense_variant,p.His582Pro,ENST00000378707,;DMD,missense_variant,p.His582Pro,ENST00000474231,;DMD,missense_variant,p.His3038Pro,ENST00000378677,;DMD,missense_variant,p.His582Pro,ENST00000359836,;DMD,missense_variant,p.His582Pro,ENST00000541735,;RNU6-894P,downstream_gene_variant,,ENST00000517094,;DMD,non_coding_transcript_exon_variant,,ENST00000469142,;	9332	110	228	SUCCESS
CXorf22	0	.	GRCh37	X	35989801	35989801	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	64	110	0	ENST00000297866.5:c.2069T>A	p.Leu690Gln	p.L690Q	ENST00000297866	NM_152632.3	690	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS14237.2	2069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTGTCTT	NONE	.	.	hmmpanther:PTHR23053,Low_complexity_(Seg):seg	.	.	ENSP00000297866	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000297866	Transcript	.	.	ENSG00000165164	28546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.18)	.	CX022_HUMAN	CXorf22	HGNC	.	.	UPI000022DD27	SNV	CXorf22,missense_variant,p.Leu690Gln,ENST00000297866,;CXorf22,missense_variant,p.Leu690Gln,ENST00000493930,;	2135	110	182	SUCCESS
CXorf36	0	.	GRCh37	X	45010995	45010995	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	63	0	ENST00000398000.2:c.1204del	p.Ala402ProfsTer5	p.A402Pfs*5	ENST00000398000	NM_176819.3	402	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS48096.1	1204	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCGGCCCCAA	NONE	.	.	hmmpanther:PTHR32073:SF8,hmmpanther:PTHR32073	.	.	ENSP00000381086	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	deletion	CXorf36,frameshift_variant,p.Ala402ProfsTer5,ENST00000398000,;CXorf36,non_coding_transcript_exon_variant,,ENST00000477281,;	1279	63	121	SUCCESS
DGKK	139189	.	GRCh37	X	50213266	50213266	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs782269260	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	30	0	ENST00000376025.2:n.472G>A		p.*158*	ENST00000376025				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUSE|VARSCANS	.	TGGGGCCGGCT	NONE	byFrequency	.	.	.	.	.	.	1/28	.	.	.	.	.	.	.	.	rs782269260	1/28	PASS	ENST00000376025	Transcript	.	.	ENSG00000204466	32395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DGKK	HGNC	.	.	.	SNV	DGKK,non_coding_transcript_exon_variant,,ENST00000376025,;DGKK,non_coding_transcript_exon_variant,,ENST00000546288,;	472	30	31	SUCCESS
VCX3B	425054	.	GRCh37	X	8434394	8434394	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	12	163	0	ENST00000381032.1:c.711G>A	p.Glu237=	p.E237=	ENST00000381032	NM_001001888.3	237	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS48077.2	711	MUTECT|VARSCANS	.	CAGGAGAGCGA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15231	.	.	ENSP00000370420	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381032	Transcript	.	.	ENSG00000205642	31838	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	VCX3B	HGNC	C9JS46_HUMAN	.	UPI000057A469	SNV	VCX3B,synonymous_variant,p.%3D,ENST00000381032,;VCX3B,synonymous_variant,p.%3D,ENST00000381029,;VCX3B,synonymous_variant,p.%3D,ENST00000444481,;VCX3B,synonymous_variant,p.%3D,ENST00000453306,;VCX3B,synonymous_variant,p.%3D,ENST00000440654,;	1018	163	164	SUCCESS
VCX3B	425054	.	GRCh37	X	8434395	8434395	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	17	179	0	ENST00000381032.1:c.712A>T	p.Ser238Cys	p.S238C	ENST00000381032	NM_001001888.3	238	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS48077.2	712	MUTECT|MUSE|VARSCANS	.	AGGAGAGCGAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15231	.	.	ENSP00000370420	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381032	Transcript	.	.	ENSG00000205642	31838	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	.	VCX3B	HGNC	C9JS46_HUMAN	.	UPI000057A469	SNV	VCX3B,missense_variant,p.Ser238Cys,ENST00000381032,;VCX3B,missense_variant,p.Ser206Cys,ENST00000381029,;VCX3B,missense_variant,p.Ser208Cys,ENST00000444481,;VCX3B,missense_variant,p.Ser178Cys,ENST00000453306,;VCX3B,missense_variant,p.Ser178Cys,ENST00000440654,;	1019	179	197	SUCCESS
C10orf118	0	.	GRCh37	10	115895966	115895966	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750060913	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	45	0	ENST00000369287.3:c.1366C>T	p.Leu456Phe	p.L456F	ENST00000369287	NM_018017.2	456	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7587.1	1366	RADIA|MUTECT|MUSE	.	TCTAAGCTTTG	NONE	.	.	hmmpanther:PTHR18911	.	.	ENSP00000358293	.	8/16	.	.	.	.	.	.	.	.	rs750060913	8/16	PASS	ENST00000369287	Transcript	.	.	ENSG00000165813	24349	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.519)	.	deleterious(0.02)	.	CJ118_HUMAN	C10orf118	HGNC	Q496Y1_HUMAN	.	UPI00001D3EF5	SNV	C10orf118,missense_variant,p.Leu456Phe,ENST00000369287,;C10orf118,missense_variant,p.Leu54Phe,ENST00000543782,;C10orf118,missense_variant,p.Leu85Phe,ENST00000428953,;C10orf118,upstream_gene_variant,,ENST00000497592,;C10orf118,upstream_gene_variant,,ENST00000490661,;	1633	45	33	SUCCESS
ZNF248	57209	.	GRCh37	10	38121809	38121809	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	25	188	0	ENST00000357328.4:c.474G>C	p.Lys158Asn	p.K158N	ENST00000357328	NM_001267597.1	158	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS7194.1	474	MUTECT|MUSE|VARSCANS	.	CAGTTCTTTTT	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68	.	.	ENSP00000379208	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395867	Transcript	.	.	ENSG00000198105	13041	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.707)	.	tolerated(0.1)	.	ZN248_HUMAN	ZNF248	HGNC	Q9UMP4_HUMAN,B4DF82_HUMAN,B1AL42_HUMAN,B1AL40_HUMAN,A2RUI7_HUMAN	.	UPI000006CF12	SNV	ZNF248,missense_variant,p.Lys158Asn,ENST00000357328,;ZNF248,missense_variant,p.Lys158Asn,ENST00000395867,;ZNF248,intron_variant,,ENST00000374648,;ZNF248,downstream_gene_variant,,ENST00000395873,;ZNF248,downstream_gene_variant,,ENST00000395874,;AL135791.1,downstream_gene_variant,,ENST00000583461,;ZNF248,intron_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,;	1025	188	270	SUCCESS
ZBTB16	7704	.	GRCh37	11	113934393	113934393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	71	0	ENST00000335953.4:c.371C>A	p.Thr124Asn	p.T124N	ENST00000335953	NM_006006.4	124	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS8367.1	371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACCATCC	NONE	.	.	hmmpanther:PTHR11389:SF425,hmmpanther:PTHR11389,Pfam_domain:PF00651,SMART_domains:SM00225	.	.	ENSP00000338157	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000335953	Transcript	.	.	ENSG00000109906	12930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious(0.01)	.	ZBT16_HUMAN	ZBTB16	HGNC	Q71UL7_HUMAN,Q71UL6_HUMAN,Q71UL5_HUMAN,F5H6C3_HUMAN,F5H5Y7_HUMAN	.	UPI000000018E	SNV	ZBTB16,missense_variant,p.Thr124Asn,ENST00000392996,;ZBTB16,missense_variant,p.Thr124Asn,ENST00000535700,;ZBTB16,missense_variant,p.Thr124Asn,ENST00000335953,;ZBTB16,downstream_gene_variant,,ENST00000544220,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000541602,;ZBTB16,upstream_gene_variant,,ENST00000539918,;	751	71	104	SUCCESS
FOXR1	283150	.	GRCh37	11	118842703	118842703	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs151253979	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	41	0	ENST00000317011.3:c.61+1G>T		p.X21_splice	ENST00000317011	NM_181721.2	21		0	C:0	.	.	.	.	T	.	protein_coding	YES	CCDS31688.1	.	MUTECT|MUSE	.	GAAACGTGAGT	NONE	.	.	.	.	C:0.0001	ENSP00000314806	.	.	.	.	.	.	.	.	.	.	rs151253979	.	PASS	ENST00000317011	Transcript	.	.	ENSG00000176302	29980	.	.	HIGH	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXR1_HUMAN	FOXR1	HGNC	.	.	UPI0000192103	SNV	FOXR1,splice_donor_variant,,ENST00000317011,;Y_RNA,downstream_gene_variant,,ENST00000410597,;FOXR1,splice_donor_variant,,ENST00000531539,;	.	41	35	SUCCESS
DUSP8	1850	.	GRCh37	11	1578679	1578679	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762127578	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	24	0	ENST00000331588.4:c.947C>T	p.Thr316Met	p.T316M	ENST00000331588		316	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS7724.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCGTCCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF108,hmmpanther:PTHR10159	.	.	ENSP00000380530	.	7/7	.	.	.	.	.	.	.	.	rs762127578	7/7	PASS	ENST00000397374	Transcript	.	.	ENSG00000184545	3074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.12)	.	DUS8_HUMAN	DUSP8	HGNC	.	.	UPI000000DAD1	SNV	DUSP8,missense_variant,p.Thr316Met,ENST00000397374,;DUSP8,missense_variant,p.Thr316Met,ENST00000331588,;DUSP8,downstream_gene_variant,,ENST00000528778,;	1075	24	26	SUCCESS
RRM1	6240	.	GRCh37	11	4159583	4159583	+	synonymous_variant	Silent	SNP	T	T	C	rs1209180851	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	88	0	ENST00000300738.5:c.2349T>C	p.Asn783=	p.N783=	ENST00000300738	NM_001033.3	783	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS7750.1	2349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATAGAGA	NONE	.	.	hmmpanther:PTHR11573	.	.	ENSP00000300738	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000300738	Transcript	.	.	ENSG00000167325	10451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIR1_HUMAN	RRM1	HGNC	F5H861_HUMAN,E9PL69_HUMAN,E9PD78_HUMAN,B4DNN4_HUMAN	.	UPI0000000C7C	SNV	RRM1,synonymous_variant,p.%3D,ENST00000423050,;RRM1,synonymous_variant,p.%3D,ENST00000537197,;RRM1,synonymous_variant,p.%3D,ENST00000300738,;RRM1,synonymous_variant,p.%3D,ENST00000534285,;RRM1-AS1,upstream_gene_variant,,ENST00000529323,;RRM1,3_prime_UTR_variant,,ENST00000533495,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,;	2553	88	66	SUCCESS
HSD17B12	51144	.	GRCh37	11	43702259	43702259	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	39	0	ENST00000278353.4:c.-119A>C		p.*40*	ENST00000278353	NM_016142.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7905.1	.	MUTECT|MUSE	.	GGCCCAAAGTG	NONE	.	.	.	.	.	ENSP00000278353	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000278353	Transcript	.	.	ENSG00000149084	18646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHB12_HUMAN	HSD17B12	HGNC	B4DWS6_HUMAN	.	UPI000004C79B	SNV	HSD17B12,5_prime_UTR_variant,,ENST00000278353,;HSD17B12,5_prime_UTR_variant,,ENST00000531185,;HSD17B12,upstream_gene_variant,,ENST00000395700,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000527433,;HSD17B12,intron_variant,,ENST00000532864,;HSD17B12,intron_variant,,ENST00000529261,;	1	39	48	SUCCESS
MRGPRF	116535	.	GRCh37	11	68772956	68772956	+	synonymous_variant	Silent	SNP	G	G	A	rs144312357	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	26	98	0	ENST00000309099.6:c.822C>T	p.Tyr274=	p.Y274=	ENST00000309099	NM_145015.4	274	taC/taT	0	A:0	.	.	.	.	A	Y	protein_coding	YES	CCDS8188.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACGTACTC	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02112,Prints_domain:PR00237	.	A:0.0001	ENSP00000309782	.	3/3	.	.	.	.	.	.	.	.	rs144312357,COSM931342	3/3	PASS	ENST00000309099	Transcript	.	.	ENSG00000172935	24828	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MRGRF_HUMAN	MRGPRF	HGNC	Q8N7J6_HUMAN	.	UPI000012F566	SNV	MRGPRF,synonymous_variant,p.%3D,ENST00000441623,;MRGPRF,synonymous_variant,p.%3D,ENST00000309099,;MRGPRF,downstream_gene_variant,,ENST00000320913,;RP11-554A11.5,downstream_gene_variant,,ENST00000562506,;RP11-554A11.4,upstream_gene_variant,,ENST00000562276,;	1205	98	111	SUCCESS
UTP20	27340	.	GRCh37	12	101673924	101673924	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	58	0	ENST00000261637.4:c.-137G>T		p.*46*	ENST00000261637	NM_014503.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9081.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCTCAA	NONE	.	.	.	.	.	ENSP00000261637	.	1/62	.	.	.	.	.	.	.	.	.	1/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,5_prime_UTR_variant,,ENST00000261637,;UTP20,non_coding_transcript_exon_variant,,ENST00000551825,;	38	58	53	SUCCESS
NFYB	4801	.	GRCh37	12	104519915	104519915	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	62	0	ENST00000240055.3:c.208A>C	p.Asn70His	p.N70H	ENST00000240055	NM_006166.3	70	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS9098.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATTTTTCA	NONE	.	.	hmmpanther:PTHR11064:SF24,hmmpanther:PTHR11064,Pfam_domain:PF00808,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	.	.	ENSP00000240055	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000240055	Transcript	.	.	ENSG00000120837	7805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0.01)	.	NFYB_HUMAN	NFYB	HGNC	.	.	UPI0000127178	SNV	NFYB,missense_variant,p.Asn71His,ENST00000551446,;NFYB,missense_variant,p.Asn70His,ENST00000551727,;NFYB,missense_variant,p.Asn70His,ENST00000240055,;RNA5SP370,downstream_gene_variant,,ENST00000362545,;NFYB,non_coding_transcript_exon_variant,,ENST00000550189,;NFYB,downstream_gene_variant,,ENST00000550881,;	436	62	52	SUCCESS
DENND5B	160518	.	GRCh37	12	31585991	31585991	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	38	0	ENST00000389082.5:c.2106+98T>A		p.*702*	ENST00000389082	NM_144973.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44857.1	.	MUTECT|MUSE	.	TTTTTAAAGAA	NONE	.	.	.	.	.	ENSP00000373734	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODIFIER	8/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,3_prime_UTR_variant,,ENST00000354285,;DENND5B,intron_variant,,ENST00000536562,;DENND5B,intron_variant,,ENST00000306833,;DENND5B,intron_variant,,ENST00000389082,;	.	38	52	SUCCESS
SLC2A13	114134	.	GRCh37	12	40153944	40153944	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	74	0	ENST00000280871.4:c.1831A>G	p.Asn611Asp	p.N611D	ENST00000280871	NM_052885.3	611	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS8736.2	1831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTTGTCAA	NONE	.	.	hmmpanther:PTHR24063:SF303,hmmpanther:PTHR24063	.	.	ENSP00000280871	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000280871	Transcript	.	.	ENSG00000151229	15956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.35)	.	MYCT_HUMAN	SLC2A13	HGNC	.	.	UPI000066D913	SNV	SLC2A13,missense_variant,p.Asn611Asp,ENST00000280871,;C12orf40,intron_variant,,ENST00000468200,;	1882	74	85	SUCCESS
TPI1	7167	.	GRCh37	12	6978268	6978268	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	71	0	ENST00000229270.4:c.356G>C	p.Gly119Ala	p.G119A	ENST00000229270	NM_001159287.1	119	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS53740.1	356	MUTECT|MUSE|VARSCANS	.	CCCTGGCATGA	NONE	.	.	HAMAP:MF_00147_B,PROSITE_profiles:PS51440,hmmpanther:PTHR21139,hmmpanther:PTHR21139:SF4,Gene3D:3.20.20.70,Pfam_domain:PF00121,TIGRFAM_domain:TIGR00419,Superfamily_domains:SSF51351	.	.	ENSP00000229270	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000229270	Transcript	.	.	ENSG00000111669	12009	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.95)	.	TPIS_HUMAN	TPI1	HGNC	U3KQF3_HUMAN,U3KPZ0_HUMAN,U3KPS5_HUMAN	.	UPI00001FBF2A	SNV	TPI1,missense_variant,p.Gly82Ala,ENST00000396705,;TPI1,missense_variant,p.Gly119Ala,ENST00000229270,;TPI1,5_prime_UTR_variant,,ENST00000488464,;TPI1,5_prime_UTR_variant,,ENST00000495834,;TPI1,5_prime_UTR_variant,,ENST00000493987,;TPI1,5_prime_UTR_variant,,ENST00000535434,;TPI1,5_prime_UTR_variant,,ENST00000462761,;SPSB2,downstream_gene_variant,,ENST00000432205,;SPSB2,downstream_gene_variant,,ENST00000519357,;LRRC23,upstream_gene_variant,,ENST00000433346,;USP5,downstream_gene_variant,,ENST00000229268,;USP5,downstream_gene_variant,,ENST00000389231,;SPSB2,downstream_gene_variant,,ENST00000523102,;SPSB2,downstream_gene_variant,,ENST00000524270,;LRRC23,upstream_gene_variant,,ENST00000449039,;RPL13P5,upstream_gene_variant,,ENST00000421824,;RPL13P5,upstream_gene_variant,,ENST00000412023,;RPL13P5,upstream_gene_variant,,ENST00000274820,;RPL13P5,upstream_gene_variant,,ENST00000451612,;USP5,downstream_gene_variant,,ENST00000542371,;USP5,downstream_gene_variant,,ENST00000537267,;TPI1,upstream_gene_variant,,ENST00000482209,;TPI1,upstream_gene_variant,,ENST00000474253,;	693	71	72	SUCCESS
EFNB2	1948	.	GRCh37	13	107164955	107164955	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	14	156	0	ENST00000245323.4:c.328T>A	p.Phe110Ile	p.F110I	ENST00000245323	NM_004093.3	110	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS9507.1	328	MUTECT|MUSE	.	GGTGAATTTGA	NONE	.	.	Prints_domain:PR01347,Superfamily_domains:SSF49503,Pfam_domain:PF00812,Gene3D:2.60.40.420,PROSITE_patterns:PS01299,hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304,PROSITE_profiles:PS51551	.	.	ENSP00000245323	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,missense_variant,p.Phe110Ile,ENST00000245323,;	478	156	187	SUCCESS
LPAR6	10161	.	GRCh37	13	48986448	48986448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	98	0	ENST00000345941.2:c.112G>T	p.Ala38Ser	p.A38S	ENST00000345941	NM_001162497.1	38	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9410.1	112	MUTECT|MUSE|VARSCANS	.	TATGGCAACAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF3,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000367691	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000378434	Transcript	.	.	ENSG00000139679	15520	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.889)	.	tolerated(0.18)	.	LPAR6_HUMAN	LPAR6	HGNC	F2YGU4_HUMAN	.	UPI0000001083	SNV	LPAR6,missense_variant,p.Ala38Ser,ENST00000345941,;LPAR6,missense_variant,p.Ala38Ser,ENST00000378434,;RB1,intron_variant,,ENST00000267163,;LPAR6,intron_variant,,ENST00000470937,;LPAR6,intron_variant,,ENST00000462781,;LPAR6,intron_variant,,ENST00000482024,;	1737	98	61	SUCCESS
SLITRK5	26050	.	GRCh37	13	88328839	88328839	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	41	0	ENST00000325089.6:c.1196A>T	p.Glu399Val	p.E399V	ENST00000325089	NM_015567.1	399	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS9465.1	1196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCGAGAGCA	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	tolerated(0.11)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Glu399Val,ENST00000325089,;SLITRK5,missense_variant,p.Glu158Val,ENST00000400028,;	1415	41	43	SUCCESS
ANKRD9	122416	.	GRCh37	14	102973397	102973397	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1450786892	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	23	0	ENST00000286918.4:c.830C>T	p.Ser277Leu	p.S277L	ENST00000286918	NM_152326.2	277	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS9973.1	830	MUTECT|MUSE	.	AGAGCGAGGGC	NONE	.	.	.	.	.	ENSP00000286918	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000286918	Transcript	.	.	ENSG00000156381	20096	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	tolerated(0.07)	.	ANKR9_HUMAN	ANKRD9	HGNC	H0YNN1_HUMAN,H0YM08_HUMAN	.	UPI000000CC75	SNV	ANKRD9,missense_variant,p.Ser277Leu,ENST00000286918,;ANKRD9,missense_variant,p.Ser277Leu,ENST00000559651,;ANKRD9,missense_variant,p.Ser277Leu,ENST00000560748,;ANKRD9,downstream_gene_variant,,ENST00000559404,;TECPR2,downstream_gene_variant,,ENST00000359520,;ANKRD9,downstream_gene_variant,,ENST00000557902,;	1427	23	28	SUCCESS
PLD4	122618	.	GRCh37	14	105395137	105395137	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	96	0	ENST00000392593.4:c.336C>A	p.Ser112Arg	p.S112R	ENST00000392593	NM_138790.2	112	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS9995.2	336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCCCTC	NONE	.	.	hmmpanther:PTHR10185:SF8,hmmpanther:PTHR10185	.	.	ENSP00000376372	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000392593	Transcript	.	.	ENSG00000166428	23792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.06)	.	PLD4_HUMAN	PLD4	HGNC	G3V472_HUMAN	.	UPI0000374BC9	SNV	PLD4,missense_variant,p.Ser119Arg,ENST00000540372,;PLD4,missense_variant,p.Ser112Arg,ENST00000392593,;PLD4,missense_variant,p.Ser110Arg,ENST00000557573,;PLD4,upstream_gene_variant,,ENST00000553861,;PLD4,non_coding_transcript_exon_variant,,ENST00000472901,;PLD4,upstream_gene_variant,,ENST00000472702,;	504	96	88	SUCCESS
BRF1	2972	.	GRCh37	14	105766805	105766805	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	57	0	ENST00000546474.1:c.162G>A	p.Val54=	p.V54=	ENST00000546474	NM_001519.3	54	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10001.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCACGGC	NONE	.	.	hmmpanther:PTHR11618:SF4,hmmpanther:PTHR11618	.	.	ENSP00000448323	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000546474	Transcript	.	.	ENSG00000185024	11551	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3B_HUMAN	BRF1	HGNC	F8VXJ4_HUMAN,F8VWY1_HUMAN,F8VWT8_HUMAN,F8VQ19_HUMAN,B3KWA2_HUMAN	.	UPI0000136C55	SNV	BRF1,synonymous_variant,p.%3D,ENST00000379937,;BRF1,synonymous_variant,p.%3D,ENST00000546474,;BRF1,synonymous_variant,p.%3D,ENST00000548421,;BRF1,coding_sequence_variant,p.%3D,ENST00000546417,;BRF1,intron_variant,,ENST00000327359,;BRF1,intron_variant,,ENST00000440513,;BRF1,intron_variant,,ENST00000550692,;PACS2,upstream_gene_variant,,ENST00000430725,;	15122	57	43	SUCCESS
GZMH	2999	.	GRCh37	14	25076373	25076373	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	70	0	ENST00000216338.4:c.579G>T	p.Lys193Asn	p.K193N	ENST00000216338	NM_033423.4	193	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS9632.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCTTCTT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271:SF20,hmmpanther:PTHR24271,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216338	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000216338	Transcript	.	.	ENSG00000100450	4710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.22)	.	GRAH_HUMAN	GZMH	HGNC	.	.	UPI00000012B3	SNV	GZMH,missense_variant,p.Lys193Asn,ENST00000216338,;GZMH,intron_variant,,ENST00000557220,;GZMH,intron_variant,,ENST00000382548,;RP11-104E19.1,intron_variant,,ENST00000555300,;RP11-104E19.1,intron_variant,,ENST00000557736,;	624	71	44	SUCCESS
NID2	22795	.	GRCh37	14	52534630	52534630	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	38	98	0	ENST00000216286.5:c.480G>T	p.Trp160Cys	p.W160C	ENST00000216286	NM_007361.3	160	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS9706.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCCAGGT	NONE	.	.	PROSITE_profiles:PS51220,SMART_domains:SM00539	.	.	ENSP00000216286	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Trp107Cys,ENST00000541773,;NID2,missense_variant,p.Trp160Cys,ENST00000216286,;	480	98	121	SUCCESS
FAN1	22909	.	GRCh37	15	31203039	31203039	+	intron_variant	Intron	SNP	A	A	G	rs373034831	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	33	99	0	ENST00000362065.4:c.1577+21A>G		p.*526*	ENST00000362065	NM_014967.4			0	C:0	.	.	.	.	G	.	protein_coding	YES	CCDS32186.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACAGTAAA	NONE	.	.	.	.	C:0.0001	ENSP00000354497	.	.	.	.	.	.	.	.	.	.	rs373034831	.	PASS	ENST00000362065	Transcript	1	.	ENSG00000198690	29170	.	.	MODIFIER	4/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAN1_HUMAN	FAN1	HGNC	.	.	UPI000006D713	SNV	FAN1,missense_variant,p.Gln533Arg,ENST00000561607,;FAN1,missense_variant,p.Gln533Arg,ENST00000561594,;FAN1,missense_variant,p.Gln533Arg,ENST00000565466,;FAN1,intron_variant,,ENST00000362065,;FAN1,downstream_gene_variant,,ENST00000562892,;FAN1,intron_variant,,ENST00000565280,;	.	99	117	SUCCESS
RYR3	6263	.	GRCh37	15	34151797	34151797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	70	0	ENST00000389232.4:c.14164G>T	p.Val4722Leu	p.V4722L	ENST00000389232	NM_001036.3	4722	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS45210.1	14164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACGTGGGA	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	100/104	.	.	.	.	.	.	.	.	.	100/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Val4722Leu,ENST00000389232,;RYR3,missense_variant,p.Val4717Leu,ENST00000415757,;RP11-3D4.2,intron_variant,,ENST00000560268,;RP11-3D4.3,upstream_gene_variant,,ENST00000560404,;RYR3,downstream_gene_variant,,ENST00000559917,;RYR3,downstream_gene_variant,,ENST00000560791,;	14234	70	78	SUCCESS
NDUFAF1	51103	.	GRCh37	15	41688875	41688875	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	25	117	0	ENST00000260361.4:c.383G>C	p.Arg128Pro	p.R128P	ENST00000260361	NM_016013.3	128	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS10075.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCCGGAAT	NONE	.	.	hmmpanther:PTHR13194,hmmpanther:PTHR13194:SF18,Pfam_domain:PF08547,Superfamily_domains:SSF49785	.	.	ENSP00000260361	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000260361	Transcript	1	.	ENSG00000137806	18828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	CIA30_HUMAN	NDUFAF1	HGNC	H0YNN4_HUMAN,H0YNB7_HUMAN	.	UPI0000127985	SNV	NDUFAF1,missense_variant,p.Arg128Pro,ENST00000560978,;NDUFAF1,missense_variant,p.Arg128Pro,ENST00000558719,;NDUFAF1,missense_variant,p.Arg128Pro,ENST00000260361,;NDUFAF1,missense_variant,p.Arg128Pro,ENST00000559127,;	765	117	127	SUCCESS
EEF2K	29904	.	GRCh37	16	22291589	22291589	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746995048	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	100	0	ENST00000263026.5:c.1960G>A	p.Gly654Ser	p.G654S	ENST00000263026	NM_013302.3	654	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS10604.1	1960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGGTGAG	NONE	byFrequency	.	hmmpanther:PTHR14187,Gene3D:1.25.40.10,PIRSF_domain:PIRSF038139,Superfamily_domains:SSF81901	.	.	ENSP00000263026	.	17/18	.	.	.	.	.	.	.	.	rs746995048	17/18	PASS	ENST00000263026	Transcript	.	.	ENSG00000103319	24615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	EF2K_HUMAN	EEF2K	HGNC	.	.	UPI000013D387	SNV	EEF2K,missense_variant,p.Gly654Ser,ENST00000263026,;	2434	100	54	SUCCESS
VAC14	55697	.	GRCh37	16	70731096	70731096	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	7	139	0	ENST00000261776.5:c.1901C>G	p.Ser634Cys	p.S634C	ENST00000261776	NM_018052.3	634	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS10896.1	1901	MUTECT|MUSE	.	AGAGGGACACC	NONE	.	.	hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023,Pfam_domain:PF11916,Superfamily_domains:SSF48371	.	.	ENSP00000261776	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000261776	Transcript	.	.	ENSG00000103043	25507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	tolerated(0.1)	.	VAC14_HUMAN	VAC14	HGNC	Q9NTB8_HUMAN,B3KSM8_HUMAN	.	UPI00001A832B	SNV	VAC14,missense_variant,p.Ser66Cys,ENST00000536184,;VAC14,missense_variant,p.Ser634Cys,ENST00000261776,;VAC14,intron_variant,,ENST00000566416,;VAC14,upstream_gene_variant,,ENST00000567648,;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,3_prime_UTR_variant,,ENST00000568886,;VAC14,non_coding_transcript_exon_variant,,ENST00000564685,;VAC14,upstream_gene_variant,,ENST00000564512,;	2162	139	124	SUCCESS
CMTR2	55783	.	GRCh37	16	71317949	71317949	+	synonymous_variant	Silent	SNP	T	T	C	rs1175084623	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	34	98	0	ENST00000338099.5:c.1875A>G	p.Leu625=	p.L625=	ENST00000338099		625	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10898.1	1875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATAAACG	NONE	.	.	hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF1	.	.	ENSP00000337512	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338099	Transcript	.	.	ENSG00000180917	25635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTR2_HUMAN	CMTR2	HGNC	H3BUK2_HUMAN,H3BTZ7_HUMAN,H3BS00_HUMAN,H3BR19_HUMAN,H3BNZ8_HUMAN	.	UPI000006EA8B	SNV	CMTR2,synonymous_variant,p.%3D,ENST00000434935,;CMTR2,synonymous_variant,p.%3D,ENST00000338099,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564690,;	2212	98	71	SUCCESS
DNAH9	1770	.	GRCh37	17	11539972	11539972	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	81	0	ENST00000262442.4:c.1657C>T	p.Leu553Phe	p.L553F	ENST00000262442	NM_001372.3	553	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS11160.1	1657	MUTECT|MUSE	.	GAAACCTCCTT	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000262442	.	9/69	.	.	.	.	.	.	.	.	.	9/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.941)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Leu553Phe,ENST00000454412,;DNAH9,missense_variant,p.Leu553Phe,ENST00000262442,;	1725	81	113	SUCCESS
CYB561	1534	.	GRCh37	17	61514979	61514979	+	intron_variant	Intron	SNP	C	C	T	rs574342712	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	19	0	ENST00000360793.3:c.-13-58G>A		p.*5*	ENST00000360793	NM_001915.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11636.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCCCCG	NONE	.	.	.	.	.	ENSP00000376702	.	.	.	.	.	.	.	.	.	.	rs574342712	.	PASS	ENST00000392976	Transcript	.	.	ENSG00000008283	2571	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CY561_HUMAN	CYB561	HGNC	J3QS47_HUMAN	.	UPI0000126C79	SNV	CYB561,5_prime_UTR_variant,,ENST00000581573,;CYB561,intron_variant,,ENST00000580592,;CYB561,intron_variant,,ENST00000580691,;CYB561,intron_variant,,ENST00000360793,;CYB561,intron_variant,,ENST00000448884,;CYB561,intron_variant,,ENST00000584291,;CYB561,intron_variant,,ENST00000392975,;CYB561,intron_variant,,ENST00000584031,;CYB561,intron_variant,,ENST00000392976,;CYB561,intron_variant,,ENST00000582297,;CYB561,intron_variant,,ENST00000582997,;CYB561,intron_variant,,ENST00000578072,;CYB561,intron_variant,,ENST00000582034,;CYB561,intron_variant,,ENST00000542042,;CYB561,upstream_gene_variant,,ENST00000585153,;CYB561,intron_variant,,ENST00000577989,;CYB561,intron_variant,,ENST00000578016,;CYB561,upstream_gene_variant,,ENST00000581163,;CYB561,intron_variant,,ENST00000583478,;CYB561,intron_variant,,ENST00000577368,;CYB561,upstream_gene_variant,,ENST00000582143,;	.	19	24	SUCCESS
SPHK1	8877	.	GRCh37	17	74383560	74383560	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs55648239	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	57	0	ENST00000392496.3:c.1048G>A	p.Val350Met	p.V350M	ENST00000392496	NM_001142602.1	350	Gtg/Atg	0	.	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS11744.1	1306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGTGCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF11,Superfamily_domains:SSF111331	A:0	.	ENSP00000313681	A:0	6/6	.	.	.	.	.	.	.	.	rs55648239	6/6	PASS	ENST00000323374	Transcript	.	A:0.0002	ENSG00000176170	11240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	A:0.001	deleterious(0.01)	.	SPHK1_HUMAN	SPHK1	HGNC	Q9BTG7_HUMAN,Q53ZR5_HUMAN,K7EMA4_HUMAN,K7EJ32_HUMAN	.	UPI00001AF3B5	SNV	SPHK1,missense_variant,p.Val364Met,ENST00000590959,;SPHK1,missense_variant,p.Val350Met,ENST00000392496,;SPHK1,missense_variant,p.Val436Met,ENST00000323374,;SPHK1,missense_variant,p.Val350Met,ENST00000545180,;SPHK1,missense_variant,p.Val350Met,ENST00000592299,;SPHK1,downstream_gene_variant,,ENST00000590379,;UBE2O,downstream_gene_variant,,ENST00000319380,;UBE2O,downstream_gene_variant,,ENST00000587127,;PRPSAP1,upstream_gene_variant,,ENST00000442767,;PRPSAP1,upstream_gene_variant,,ENST00000423915,;SPHK1,downstream_gene_variant,,ENST00000591651,;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,non_coding_transcript_exon_variant,,ENST00000591762,;SPHK1,downstream_gene_variant,,ENST00000587167,;	1762	57	61	SUCCESS
TP53	7157	.	GRCh37	17	7577023	7577033	+	frameshift_variant	Frame_Shift_Del	DEL	CTTAGTGCTCC	CTTAGTGCTCC	-	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	CTTAGTGCTCC	CTTAGTGCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	71	0	ENST00000269305.4:c.905_915del	p.Gly302AlafsTer31	p.G302Afs*31	ENST00000269305	NM_001126112.2	302	gGGAGCACTAAG/g	0	.	.	.	.	.	-	GSTK/X	protein_coding	YES	CCDS11118.1	905-915	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTCGCTTAGTGCTCCCTGGG	CODON|p.0?|c.1_1182del1182|6,CODON|p.R306*|c.916C>T|16,CODON|p.R306*|c.916C>T|152,CODON|p.R306*|c.916C>T|24,CODON|p.R306*|c.916C>T|43,CODON|p.K305N|c.915G>T|3,CODON|p.K305*|c.913A>T|16,CODON|p.K305*|c.913A>T|3,CODON|p.S303N|c.908G>A|3,CODON|p.S303T|c.908G>C|3,BUFFER|p.?|c.919+2T>G|3,BUFFER|p.?|c.919+1G>C|4,BUFFER|p.?|c.919+1G>T|9,BUFFER|p.?|c.919+1G>A|6,BUFFER|p.?|c.919+1G>A|10,BUFFER|p.A307fs*38|c.919delG|4,BUFFER|p.G302E|c.905G>A|3,BUFFER|p.S303fs*42|c.904delG|5,BUFFER|p.P301fs*44|c.902delC|3,BUFFER|p.G302fs*4|c.902_903insN|3,BUFFER|p.P301S|c.901C>T|3,BUFFER|p.P300L|c.899C>T|6,BUFFER|p.P301fs*44|c.898delC|5,BUFFER|p.P300S|c.898C>T|3,BUFFER|p.L299fs*7|c.894_895insN|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Gly302AlafsTer41,ENST00000420246,;TP53,frameshift_variant,p.Gly302AlafsTer31,ENST00000269305,;TP53,frameshift_variant,p.Gly170AlafsTer?,ENST00000509690,;TP53,frameshift_variant,p.Gly302AlafsTer70,ENST00000359597,;TP53,frameshift_variant,p.Gly302AlafsTer31,ENST00000445888,;TP53,frameshift_variant,p.Gly302AlafsTer30,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1095-1105	71	75	SUCCESS
SPTBN4	57731	.	GRCh37	19	41073990	41073990	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	6	140	0	ENST00000352632.3:c.6758A>T	p.Glu2253Val	p.E2253V	ENST00000352632		2253	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12559.1	6758	MUTECT|MUSE	.	GCAAGAGTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002297,SMART_domains:SM00150	.	.	ENSP00000263373	.	31/36	.	.	.	.	.	.	.	.	.	31/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.95)	.	deleterious_low_confidence(0.01)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Glu2253Val,ENST00000352632,;SPTBN4,missense_variant,p.Glu996Val,ENST00000392025,;SPTBN4,missense_variant,p.Glu2253Val,ENST00000598249,;SPTBN4,downstream_gene_variant,,ENST00000338932,;SPTBN4,upstream_gene_variant,,ENST00000599926,;SPTBN4,upstream_gene_variant,,ENST00000593816,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,upstream_gene_variant,,ENST00000596411,;SPTBN4,upstream_gene_variant,,ENST00000595690,;	6844	140	127	SUCCESS
TRAPPC6A	79090	.	GRCh37	19	45668161	45668161	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	64	0	ENST00000585934.1:c.220T>C	p.Trp74Arg	p.W74R	ENST00000585934	NM_001270891.1	74	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS12655.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCACAGGT	NONE	.	.	Superfamily_domains:SSF111126,Gene3D:3.30.1380.20,Pfam_domain:PF04051,hmmpanther:PTHR12817,hmmpanther:PTHR12817:SF2	.	.	ENSP00000006275	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000006275	Transcript	.	.	ENSG00000007255	23069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TPC6A_HUMAN	TRAPPC6A	HGNC	.	.	UPI0000052E20	SNV	TRAPPC6A,missense_variant,p.Val51Ala,ENST00000588062,;TRAPPC6A,missense_variant,p.Val65Ala,ENST00000592647,;TRAPPC6A,missense_variant,p.Trp74Arg,ENST00000585934,;TRAPPC6A,missense_variant,p.Trp88Arg,ENST00000006275,;MARK4,intron_variant,,ENST00000587566,;NKPD1,upstream_gene_variant,,ENST00000317951,;TRAPPC6A,non_coding_transcript_exon_variant,,ENST00000587818,;	281	64	74	SUCCESS
SYCP1	6847	.	GRCh37	1	115400064	115400064	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	60	250	0	ENST00000369518.1:c.238-1G>A		p.X80_splice	ENST00000369518		80		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGGTTGG	NONE	.	.	.	.	.	ENSP00000358535	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369522	Transcript	.	.	ENSG00000198765	11487	.	.	HIGH	4/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCP1_HUMAN	SYCP1	HGNC	Q5VXJ5_HUMAN	.	UPI00001CE3B9	SNV	SYCP1,splice_acceptor_variant,,ENST00000455987,;SYCP1,splice_acceptor_variant,,ENST00000369518,;SYCP1,splice_acceptor_variant,,ENST00000369522,;SYCP1,upstream_gene_variant,,ENST00000468191,;SYCP1,upstream_gene_variant,,ENST00000477215,;	.	250	246	SUCCESS
FCRL2	79368	.	GRCh37	1	157736740	157736740	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	327	83	308	0	ENST00000361516.3:c.1184A>G	p.Asp395Gly	p.D395G	ENST00000361516	NM_030764.3	395	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1168.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTCTCTT	NONE	.	.	hmmpanther:PTHR11481:SF41,hmmpanther:PTHR11481	.	.	ENSP00000355157	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000361516	Transcript	.	.	ENSG00000132704	14875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	tolerated(0.19)	.	FCRL2_HUMAN	FCRL2	HGNC	.	.	UPI000006E1F3	SNV	FCRL2,missense_variant,p.Asp395Gly,ENST00000361516,;FCRL2,missense_variant,p.Asp142Gly,ENST00000469986,;FCRL2,missense_variant,p.Asp395Gly,ENST00000392274,;FCRL2,missense_variant,p.Asp111Gly,ENST00000368181,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,downstream_gene_variant,,ENST00000462774,;	1233	308	411	SUCCESS
OR6P1	128366	.	GRCh37	1	158532627	158532627	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	21	106	0	ENST00000334632.1:c.768C>A	p.Leu256=	p.L256=	ENST00000334632	NM_001160325.1	256	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS53391.1	768	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGAGAGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,synonymous_variant,p.%3D,ENST00000334632,;	768	106	128	SUCCESS
TDRD5	163589	.	GRCh37	1	179638399	179638399	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	67	203	1	ENST00000294848.8:c.2558C>T	p.Thr853Ile	p.T853I	ENST00000294848	NM_173533.3	853	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS55663.1	2720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACCCAGT	NONE	.	.	.	.	.	ENSP00000406052	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Thr853Ile,ENST00000367614,;TDRD5,missense_variant,p.Thr363Ile,ENST00000417329,;TDRD5,missense_variant,p.Thr907Ile,ENST00000444136,;TDRD5,missense_variant,p.Thr853Ile,ENST00000294848,;	2970	204	272	SUCCESS
HMCN1	83872	.	GRCh37	1	186024715	186024715	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	12	152	0	ENST00000271588.4:c.7053G>T	p.Lys2351Asn	p.K2351N	ENST00000271588	NM_031935.2	2351	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS30956.1	7053	MUTECT|MUSE	.	CTGAAGAACAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	45/107	.	.	.	.	.	.	.	.	.	45/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Lys2351Asn,ENST00000367492,;HMCN1,missense_variant,p.Lys2351Asn,ENST00000271588,;	7282	152	219	SUCCESS
CACNA1S	779	.	GRCh37	1	201009074	201009074	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs368214163	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	37	0	ENST00000362061.3:c.5507G>C	p.Arg1836Pro	p.R1836P	ENST00000362061	NM_000069.2	1836	cGa/cCa	0	G:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS1407.1	5507	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTCTCGTCCT	NONE	byFrequency|byCluster	.	.	.	G:0.0001	ENSP00000355192	.	44/44	.	.	.	.	.	.	.	.	rs368214163	44/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.401)	.	deleterious_low_confidence(0)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Arg1817Pro,ENST00000367338,;CACNA1S,missense_variant,p.Arg1836Pro,ENST00000362061,;RP11-168O16.2,intron_variant,,ENST00000415359,;	5734	37	41	SUCCESS
LMOD1	25802	.	GRCh37	1	201869293	201869293	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	16	93	0	ENST00000367288.4:c.848A>G	p.Lys283Arg	p.K283R	ENST00000367288	NM_012134.2	283	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS53457.1	848	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTTGGCT	NONE	.	.	hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5	.	.	ENSP00000356257	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000367288	Transcript	.	.	ENSG00000163431	6647	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	.	.	LMOD1_HUMAN	LMOD1	HGNC	B4DIX9_HUMAN	.	UPI00003665F4	SNV	LMOD1,missense_variant,p.Lys283Arg,ENST00000367288,;RP11-307B6.3,downstream_gene_variant,,ENST00000458139,;RP11-307B6.3,downstream_gene_variant,,ENST00000414927,;	1095	93	122	SUCCESS
AIM1L	0	.	GRCh37	1	26663754	26663754	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	7	75	0	ENST00000527815.1:c.1139T>C	p.Val380Ala	p.V380A	ENST00000527815	NM_001039775.3	380	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	.	1139	MUTECT|MUSE	.	GGATGACCCGG	NONE	.	.	Superfamily_domains:SSF49695,SMART_domains:SM00247,Gene3D:2.60.20.10,Pfam_domain:PF00030,hmmpanther:PTHR11818:SF50,hmmpanther:PTHR11818,PROSITE_profiles:PS50915	.	.	ENSP00000433931	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000527815	Transcript	.	.	ENSG00000176092	17295	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.454)	.	tolerated(0.06)	.	.	AIM1L	HGNC	E9PIR9_HUMAN	.	UPI0001F7836C	SNV	AIM1L,missense_variant,p.Val209Ala,ENST00000308182,;AIM1L,missense_variant,p.Val147Ala,ENST00000429942,;AIM1L,missense_variant,p.Val380Ala,ENST00000527815,;AIM1L,non_coding_transcript_exon_variant,,ENST00000522993,;AIM1L,upstream_gene_variant,,ENST00000522923,;AIM1L,upstream_gene_variant,,ENST00000520372,;	1189	75	111	SUCCESS
KIF16B	55614	.	GRCh37	20	16554058	16554058	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	44	0	ENST00000354981.2:c.-138A>C		p.*46*	ENST00000354981	NM_024704.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56178.1	.	MUTECT|MUSE	.	TGGAGTTCCGC	NONE	.	.	.	.	.	ENSP00000384164	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000408042	Transcript	.	.	ENSG00000089177	15869	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI16B_HUMAN	KIF16B	HGNC	.	.	UPI00003BF77C	SNV	KIF16B,5_prime_UTR_variant,,ENST00000378003,;KIF16B,5_prime_UTR_variant,,ENST00000408042,;KIF16B,5_prime_UTR_variant,,ENST00000354981,;KIF16B,5_prime_UTR_variant,,ENST00000355755,;	21	44	59	SUCCESS
ELMO2	63916	.	GRCh37	20	45002045	45002045	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	53	0	ENST00000290246.6:c.1409T>A	p.Phe470Tyr	p.F470Y	ENST00000290246	NM_133171.3	470	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS13398.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGAAGTCC	NONE	.	.	PROSITE_profiles:PS51335,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF8,Pfam_domain:PF04727	.	.	ENSP00000290246	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000290246	Transcript	.	.	ENSG00000062598	17233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.04)	.	ELMO2_HUMAN	ELMO2	HGNC	Q7Z5G9_HUMAN,Q5JVZ4_HUMAN,Q5BLP5_HUMAN,F5GZP8_HUMAN	.	UPI000013F6C4	SNV	ELMO2,missense_variant,p.Phe202Tyr,ENST00000454865,;ELMO2,missense_variant,p.Phe287Tyr,ENST00000445496,;ELMO2,missense_variant,p.Phe258Tyr,ENST00000425546,;ELMO2,missense_variant,p.Phe482Tyr,ENST00000439931,;ELMO2,missense_variant,p.Phe382Tyr,ENST00000372176,;ELMO2,missense_variant,p.Phe470Tyr,ENST00000290246,;ELMO2,missense_variant,p.Phe37Tyr,ENST00000452857,;ELMO2,missense_variant,p.Phe470Tyr,ENST00000396391,;ELMO2,missense_variant,p.Phe468Tyr,ENST00000352077,;ELMO2,downstream_gene_variant,,ENST00000450812,;ELMO2,non_coding_transcript_exon_variant,,ENST00000464448,;ELMO2,non_coding_transcript_exon_variant,,ENST00000462491,;ELMO2,downstream_gene_variant,,ENST00000481852,;ELMO2,downstream_gene_variant,,ENST00000488853,;ELMO2,missense_variant,p.Phe195Tyr,ENST00000467800,;	1604	53	61	SUCCESS
ITGB2	3689	.	GRCh37	21	46314957	46314957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	60	0	ENST00000302347.5:c.1012C>A	p.Pro338Thr	p.P338T	ENST00000302347	NM_000211.3	338	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS13716.1	1012	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGGATGA	NONE	.	.	Prints_domain:PR01186,Superfamily_domains:SSF53300,Superfamily_domains:SSF69179,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Pfam_domain:PF00362,Gene3D:3.40.50.410,hmmpanther:PTHR10082:SF15,hmmpanther:PTHR10082	.	.	ENSP00000380948	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.868)	.	deleterious(0.02)	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Pro338Thr,ENST00000397850,;ITGB2,missense_variant,p.Pro338Thr,ENST00000355153,;ITGB2,missense_variant,p.Pro338Thr,ENST00000397852,;ITGB2,missense_variant,p.Pro338Thr,ENST00000397857,;ITGB2,missense_variant,p.Pro281Thr,ENST00000397854,;ITGB2,missense_variant,p.Pro338Thr,ENST00000302347,;ITGB2,downstream_gene_variant,,ENST00000320216,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,upstream_gene_variant,,ENST00000475170,;	1465	60	44	SUCCESS
COL18A1-AS1	378832	.	GRCh37	21	46841325	46841325	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	70	0	ENST00000397787.1:n.1731A>C		p.*577*	ENST00000397787				0	.	.	.	.	.	G	.	antisense	YES	.	.	MUTECT|MUSE	.	CAGAGTCCGCC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397787	Transcript	.	.	ENSG00000183535	23132	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	COL18A1-AS1	HGNC	.	.	.	SNV	COL18A1,intron_variant,,ENST00000400337,;COL18A1-AS1,non_coding_transcript_exon_variant,,ENST00000397787,;COL18A1-AS1,non_coding_transcript_exon_variant,,ENST00000485206,;	1731	70	65	SUCCESS
L3MBTL2	83746	.	GRCh37	22	41621896	41621896	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	50	0	ENST00000216237.5:c.1455C>A	p.Phe485Leu	p.F485L	ENST00000216237	NM_031488.4	485	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS14011.1	1455	MUTECT|MUSE	.	ATCTTCCCGGC	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF64,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000216237	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000216237	Transcript	.	.	ENSG00000100395	18594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.481)	.	tolerated(0.23)	.	LMBL2_HUMAN	L3MBTL2	HGNC	.	.	UPI000012E77E	SNV	L3MBTL2,missense_variant,p.Phe485Leu,ENST00000216237,;CHADL,downstream_gene_variant,,ENST00000417999,;L3MBTL2,downstream_gene_variant,,ENST00000449635,;CHADL,downstream_gene_variant,,ENST00000216241,;L3MBTL2,missense_variant,p.Phe485Leu,ENST00000452106,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000481902,;L3MBTL2,downstream_gene_variant,,ENST00000450939,;	1613	50	43	SUCCESS
PMM1	5372	.	GRCh37	22	41973917	41973917	+	synonymous_variant	Silent	SNP	G	G	A	rs767190597	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	63	0	ENST00000216259.7:c.561C>T	p.Ile187=	p.I187=	ENST00000216259	NM_002676.2	187	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS14020.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGATCAT	NONE	.	.	hmmpanther:PTHR10466,hmmpanther:PTHR10466:SF1,TIGRFAM_domain:TIGR01484,Pfam_domain:PF03332,Superfamily_domains:SSF56784	.	.	ENSP00000216259	.	7/8	.	.	.	.	.	.	.	.	rs767190597	7/8	PASS	ENST00000216259	Transcript	.	.	ENSG00000100417	9114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMM1_HUMAN	PMM1	HGNC	.	.	UPI00000302B6	SNV	PMM1,synonymous_variant,p.%3D,ENST00000216259,;CSDC2,downstream_gene_variant,,ENST00000460790,;CSDC2,downstream_gene_variant,,ENST00000306149,;PMM1,non_coding_transcript_exon_variant,,ENST00000463617,;PMM1,non_coding_transcript_exon_variant,,ENST00000485648,;PMM1,non_coding_transcript_exon_variant,,ENST00000482178,;PMM1,non_coding_transcript_exon_variant,,ENST00000472620,;	646	63	98	SUCCESS
MAP4K4	9448	.	GRCh37	2	102501674	102501674	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	97	0	ENST00000347699.4:c.3111G>A	p.Leu1037=	p.L1037=	ENST00000347699	NM_145687.3	1037	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS56130.1	3111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGGTGAT	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF225,hmmpanther:PTHR24361,Pfam_domain:PF00780,SMART_domains:SM00036	.	.	ENSP00000314363	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000347699	Transcript	.	.	ENSG00000071054	6866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4K4_HUMAN	MAP4K4	HGNC	Q53TW0_HUMAN,E7ETN6_HUMAN	.	UPI00000747E2	SNV	MAP4K4,synonymous_variant,p.%3D,ENST00000456652,;MAP4K4,synonymous_variant,p.%3D,ENST00000347699,;MAP4K4,synonymous_variant,p.%3D,ENST00000425019,;MAP4K4,synonymous_variant,p.%3D,ENST00000302217,;MAP4K4,synonymous_variant,p.%3D,ENST00000350198,;MAP4K4,synonymous_variant,p.%3D,ENST00000413150,;MAP4K4,synonymous_variant,p.%3D,ENST00000421882,;MAP4K4,synonymous_variant,p.%3D,ENST00000350878,;MAP4K4,synonymous_variant,p.%3D,ENST00000417294,;MAP4K4,synonymous_variant,p.%3D,ENST00000324219,;	3111	97	79	SUCCESS
ANAPC1	64682	.	GRCh37	2	112560035	112560035	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	57	238	0	ENST00000341068.3:c.4191del	p.Phe1398LeufsTer2	p.F1398Lfs*2	ENST00000341068	NM_022662.3	1397	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS2093.1	4191	INDELOCATOR|VARSCANI	.	CACAAAGTCCAA	NONE	.	.	hmmpanther:PTHR12827	.	.	ENSP00000339109	.	33/48	.	.	.	.	.	.	.	.	.	33/48	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	deletion	ANAPC1,frameshift_variant,p.Phe1398LeufsTer2,ENST00000341068,;ANAPC1,frameshift_variant,p.Phe933LeufsTer2,ENST00000427997,;ANAPC1,downstream_gene_variant,,ENST00000485325,;	4964	238	226	SUCCESS
STK39	27347	.	GRCh37	2	168986082	168986082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	50	183	0	ENST00000355999.4:c.1058G>T	p.Arg353Ile	p.R353I	ENST00000355999	NM_013233.2	353	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS42770.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTCTTGTA	NONE	.	.	hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361,Superfamily_domains:SSF56112	.	.	ENSP00000348278	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000355999	Transcript	.	.	ENSG00000198648	17717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.22)	.	STK39_HUMAN	STK39	HGNC	.	.	UPI000013D46D	SNV	STK39,missense_variant,p.Arg353Ile,ENST00000355999,;	1764	183	182	SUCCESS
SMARCAL1	50485	.	GRCh37	2	217293425	217293425	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	72	0	ENST00000357276.4:c.1254A>C	p.Pro418=	p.P418=	ENST00000357276	NM_014140.3	418	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS2403.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCAGATGT	NONE	.	.	hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799,Superfamily_domains:SSF52540	.	.	ENSP00000349823	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000357276	Transcript	.	.	ENSG00000138375	11102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAL1_HUMAN	SMARCAL1	HGNC	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN	.	UPI000000DA30	SNV	SMARCAL1,synonymous_variant,p.%3D,ENST00000427645,;SMARCAL1,synonymous_variant,p.%3D,ENST00000357276,;SMARCAL1,synonymous_variant,p.%3D,ENST00000412913,;SMARCAL1,synonymous_variant,p.%3D,ENST00000392128,;SMARCAL1,synonymous_variant,p.%3D,ENST00000358207,;SMARCAL1,upstream_gene_variant,,ENST00000445153,;SMARCAL1,non_coding_transcript_exon_variant,,ENST00000479008,;	1584	72	74	SUCCESS
NRXN1	9378	.	GRCh37	2	50318473	50318473	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	66	0	ENST00000406316.2:c.3706C>T	p.Arg1236Cys	p.R1236C	ENST00000406316	NM_004801.4	1236	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS46282.1	3826	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGCTCGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282	.	.	ENSP00000385142	.	20/24	.	.	.	.	.	.	.	.	COSM4094592,COSM4094594,COSM4094591,COSM4094595,COSM4094593	20/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.Arg1228Cys,ENST00000405472,;NRXN1,missense_variant,p.Arg254Cys,ENST00000401710,;NRXN1,missense_variant,p.Arg1276Cys,ENST00000404971,;NRXN1,missense_variant,p.Arg1236Cys,ENST00000406316,;NRXN1,missense_variant,p.Arg1236Cys,ENST00000401669,;NRXN1,missense_variant,p.Arg201Cys,ENST00000342183,;NRXN1,missense_variant,p.Arg1236Cys,ENST00000406859,;NRXN1,missense_variant,p.Arg1228Cys,ENST00000402717,;	5166	66	73	SUCCESS
NRXN1	9378	.	GRCh37	2	50765499	50765499	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1420356542	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	37	154	0	ENST00000406316.2:c.2035C>A	p.Pro679Thr	p.P679T	ENST00000406316	NM_004801.4	679	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46282.1	2155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGGTTTTG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,SMART_domains:SM00181	.	.	ENSP00000385142	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	tolerated(0.05)	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.Pro671Thr,ENST00000405472,;NRXN1,missense_variant,p.Pro719Thr,ENST00000404971,;NRXN1,missense_variant,p.Pro679Thr,ENST00000406316,;NRXN1,missense_variant,p.Pro679Thr,ENST00000401669,;NRXN1,missense_variant,p.Pro679Thr,ENST00000406859,;NRXN1,missense_variant,p.Pro671Thr,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,intron_variant,,ENST00000495871,;	3495	154	144	SUCCESS
PEX13	5194	.	GRCh37	2	61245538	61245538	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	21	0	ENST00000295030.5:c.92+552G>C		p.*31*	ENST00000295030	NM_002618.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1866.1	.	MUTECT|MUSE	.	AGCAGGAGTTC	NONE	.	.	.	.	.	ENSP00000295030	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,3_prime_UTR_variant,,ENST00000444100,;PEX13,3_prime_UTR_variant,,ENST00000414712,;PEX13,3_prime_UTR_variant,,ENST00000401576,;PEX13,intron_variant,,ENST00000295030,;PUS10,upstream_gene_variant,,ENST00000407787,;PUS10,upstream_gene_variant,,ENST00000316752,;PUS10,upstream_gene_variant,,ENST00000421319,;PUS10,upstream_gene_variant,,ENST00000398658,;PEX13,intron_variant,,ENST00000472678,;PUS10,upstream_gene_variant,,ENST00000602599,;PUS10,upstream_gene_variant,,ENST00000430495,;	.	21	21	SUCCESS
LBX2	85474	.	GRCh37	2	74726555	74726555	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	16	212	0	ENST00000377566.4:c.110C>T	p.Ser37Leu	p.S37L	ENST00000377566	NM_001282430.1	37	tCg/tTg	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33228.1	.	MUTECT|MUSE	.	GACCCGACTCT	NONE	.	.	.	.	.	ENSP00000417116	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000460508	Transcript	.	.	ENSG00000179528	15525	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LBX2_HUMAN	LBX2	HGNC	.	.	UPI00001AADF5	SNV	LBX2,missense_variant,p.Ser37Leu,ENST00000377566,;LBX2,intron_variant,,ENST00000341396,;LBX2,intron_variant,,ENST00000460508,;TTC31,downstream_gene_variant,,ENST00000410003,;TTC31,downstream_gene_variant,,ENST00000233623,;RP11-523H20.3,upstream_gene_variant,,ENST00000606287,;AC005041.17,upstream_gene_variant,,ENST00000479098,;LBX2-AS1,upstream_gene_variant,,ENST00000548978,;LBX2-AS1,upstream_gene_variant,,ENST00000603175,;LBX2,intron_variant,,ENST00000550249,;TTC31,downstream_gene_variant,,ENST00000491252,;TTC31,downstream_gene_variant,,ENST00000489152,;TTC31,downstream_gene_variant,,ENST00000424122,;	.	212	242	SUCCESS
CD8B	926	.	GRCh37	2	87085479	87085479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	84	209	0	ENST00000390655.6:c.104A>T	p.Lys35Met	p.K35M	ENST00000390655	NM_004931.4	35	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS1995.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCTTGTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11292,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000331172	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000331469	Transcript	.	.	ENSG00000172116	1707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.06)	.	CD8B_HUMAN	CD8B	HGNC	Q8TD28_HUMAN,B4E0F8_HUMAN	.	UPI0000160A12	SNV	CD8B,missense_variant,p.Lys35Met,ENST00000349455,;CD8B,missense_variant,p.Lys35Met,ENST00000390655,;CD8B,missense_variant,p.Lys35Met,ENST00000393759,;CD8B,missense_variant,p.Lys35Met,ENST00000393761,;CD8B,missense_variant,p.Lys35Met,ENST00000331469,;CD8B,intron_variant,,ENST00000431506,;AC111200.1,upstream_gene_variant,,ENST00000441646,;	154	209	253	SUCCESS
CNGA3	1261	.	GRCh37	2	99012463	99012463	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778114016	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	12	164	0	ENST00000272602.2:c.830G>A	p.Arg277His	p.R277H	ENST00000272602		277	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS2034.1	830	MUTECT|MUSE|VARSCANS	.	CAACCGCCTAC	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	CM014539,rs778114016	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,0	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Arg281His,ENST00000409937,;CNGA3,missense_variant,p.Arg277His,ENST00000393504,;CNGA3,missense_variant,p.Arg259His,ENST00000436404,;CNGA3,missense_variant,p.Arg277His,ENST00000272602,;	1247	164	159	SUCCESS
ARGFX	503582	.	GRCh37	3	121305241	121305241	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	86	0	ENST00000334384.3:c.742C>T	p.His248Tyr	p.H248Y	ENST00000334384	NM_001012659.1	248	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS33834.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCACTGT	NONE	.	.	.	.	.	ENSP00000335578	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000334384	Transcript	.	.	ENSG00000186103	30146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.27)	.	ARGFX_HUMAN	ARGFX	HGNC	.	.	UPI00004ED62C	SNV	ARGFX,missense_variant,p.His248Tyr,ENST00000334384,;snoU13,upstream_gene_variant,,ENST00000459366,;	752	86	82	SUCCESS
SLC41A3	54946	.	GRCh37	3	125752500	125752500	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	28	105	1	ENST00000315891.6:c.403G>A	p.Asp135Asn	p.D135N	ENST00000315891	NM_017836.3	135	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS33843.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCATCAA	NONE	.	.	hmmpanther:PTHR16228:SF22,hmmpanther:PTHR16228,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748	.	.	ENSP00000326070	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000315891	Transcript	.	.	ENSG00000114544	31046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.26)	.	S41A3_HUMAN	SLC41A3	HGNC	D6RF72_HUMAN,D6R9S7_HUMAN,D6R925_HUMAN	.	UPI000013D523	SNV	SLC41A3,missense_variant,p.Asp135Asn,ENST00000360370,;SLC41A3,missense_variant,p.Asp109Asn,ENST00000383598,;SLC41A3,missense_variant,p.Asp135Asn,ENST00000507280,;SLC41A3,missense_variant,p.Asp135Asn,ENST00000315891,;SLC41A3,missense_variant,p.Asp135Asn,ENST00000512470,;SLC41A3,missense_variant,p.Asp135Asn,ENST00000514891,;SLC41A3,missense_variant,p.Asp99Asn,ENST00000514333,;SLC41A3,missense_variant,p.Asp99Asn,ENST00000346785,;SLC41A3,missense_variant,p.Asp135Asn,ENST00000509064,;SLC41A3,missense_variant,p.Asp187Asn,ENST00000513723,;SLC41A3,missense_variant,p.Asp150Asn,ENST00000514677,;SLC41A3,missense_variant,p.Asp18Asn,ENST00000508835,;SLC41A3,missense_variant,p.Asp135Asn,ENST00000504035,;SLC41A3,intron_variant,,ENST00000510651,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000514023,;SLC41A3,missense_variant,p.Asp18Asn,ENST00000507008,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000513464,;	642	106	121	SUCCESS
EPHB1	2047	.	GRCh37	3	134968201	134968201	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201702941	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	28	0	ENST00000398015.3:c.2714G>A	p.Arg905His	p.R905H	ENST00000398015	NM_004441.4	905	cGc/cAc	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS46921.1	2714	MUTECT|MUSE	.	CGACCGCTCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Gene3D:1.10.150.50,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	A:0	ENSP00000381097	.	15/16	.	.	.	.	.	.	.	.	rs201702941,COSM1419321,COSM1419320	15/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.028)	.	tolerated(0.16)	0,1,1	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,missense_variant,p.Arg466His,ENST00000493838,;EPHB1,missense_variant,p.Arg905His,ENST00000398015,;	3084	28	41	SUCCESS
ACAP2	23527	.	GRCh37	3	195102681	195102681	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760720158	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	82	237	0	ENST00000326793.6:c.182A>G	p.Asn61Ser	p.N61S	ENST00000326793	NM_012287.5	61	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS33924.1	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCATTCATG	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Superfamily_domains:SSF103657	.	.	ENSP00000324287	.	3/23	.	.	.	.	.	.	.	.	rs760720158	3/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.Asn17Ser,ENST00000439666,;ACAP2,missense_variant,p.Asn61Ser,ENST00000326793,;ACAP2,non_coding_transcript_exon_variant,,ENST00000481463,;ACAP2,3_prime_UTR_variant,,ENST00000447662,;ACAP2,non_coding_transcript_exon_variant,,ENST00000480906,;	413	237	238	SUCCESS
MUC4	4585	.	GRCh37	3	195474197	195474197	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	251	15	224	0	ENST00000463781.3:c.16089C>T	p.Ser5363=	p.S5363=	ENST00000463781	NM_018406.6	5363	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54700.1	16089	MUTECT|MUSE	.	TTCATGCTCAG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000346145,;MUC4,synonymous_variant,p.%3D,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,non_coding_transcript_exon_variant,,ENST00000464234,;MUC4,downstream_gene_variant,,ENST00000469992,;MUC4,downstream_gene_variant,,ENST00000467235,;	16549	224	267	SUCCESS
TCAIM	285343	.	GRCh37	3	44442703	44442703	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	90	0	ENST00000342649.4:c.1127A>T	p.Tyr376Phe	p.Y376F	ENST00000342649	NM_173826.3	376	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS2712.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATATGCTC	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.7)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Tyr376Phe,ENST00000342649,;TCAIM,missense_variant,p.Tyr376Phe,ENST00000417237,;TCAIM,non_coding_transcript_exon_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;TCAIM,downstream_gene_variant,,ENST00000417768,;	1554	90	69	SUCCESS
DCHS2	54798	.	GRCh37	4	155157584	155157584	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	66	186	0	ENST00000357232.4:c.6855C>A	p.Val2285=	p.V2285=	ENST00000357232	NM_017639.3	2285	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3785.1	6855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGACAGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000357232,;	6855	186	150	SUCCESS
RGS12	6002	.	GRCh37	4	3318452	3318452	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	86	0	ENST00000336727.3:c.555T>A	p.Ser185Arg	p.S185R	ENST00000336727	NM_002926.3	185	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS3366.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGTATAAA	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF149	.	.	ENSP00000339381	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000344733	Transcript	.	.	ENSG00000159788	9994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.16)	.	RGS12_HUMAN	RGS12	HGNC	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN	.	UPI0000133830	SNV	RGS12,missense_variant,p.Ser185Arg,ENST00000543385,;RGS12,missense_variant,p.Ser185Arg,ENST00000336727,;RGS12,missense_variant,p.Ser185Arg,ENST00000382788,;RGS12,missense_variant,p.Ser185Arg,ENST00000344733,;RGS12,upstream_gene_variant,,ENST00000511805,;RP11-357G3.2,downstream_gene_variant,,ENST00000600073,;RGS12,missense_variant,p.Ser185Arg,ENST00000514268,;RGS12,non_coding_transcript_exon_variant,,ENST00000502947,;RGS12,intron_variant,,ENST00000506631,;RP11-357G3.2,downstream_gene_variant,,ENST00000510094,;	1459	86	81	SUCCESS
YTHDC1	91746	.	GRCh37	4	69179827	69179827	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs764494855	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	94	0	ENST00000344157.4:c.2174A>C	p.Tyr725Ser	p.Y725S	ENST00000344157	NM_001031732.2	725	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS33992.1	2174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATATCGA	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000339245	.	17/17	.	.	.	.	.	.	.	.	rs764494855	17/17	PASS	ENST00000344157	Transcript	.	.	ENSG00000083896	30626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	YTDC1_HUMAN	YTHDC1	HGNC	J3KS01_HUMAN	.	UPI000020B86D	SNV	YTHDC1,missense_variant,p.Tyr707Ser,ENST00000355665,;YTHDC1,missense_variant,p.Tyr733Ser,ENST00000579690,;YTHDC1,missense_variant,p.Tyr725Ser,ENST00000344157,;YTHDC1,downstream_gene_variant,,ENST00000507529,;	2510	94	57	SUCCESS
ALB	213	.	GRCh37	4	74272394	74272394	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs763937998	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	65	0	ENST00000295897.4:c.186T>G	p.Asp62Glu	p.D62E	ENST00000295897	NM_000477.5	62	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS3555.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATCATGT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	3/15	.	.	.	.	.	.	.	.	rs763937998	3/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Asp62Glu,ENST00000509063,;ALB,missense_variant,p.Asp62Glu,ENST00000295897,;ALB,missense_variant,p.Asp64Glu,ENST00000441319,;ALB,5_prime_UTR_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000507673,;	275	65	43	SUCCESS
TRPC7	57113	.	GRCh37	5	135551937	135551937	+	synonymous_variant	Silent	SNP	T	T	C	rs749498066	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	49	0	ENST00000513104.1:c.2370A>G	p.Arg790=	p.R790=	ENST00000513104	NM_020389.2	790	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS47267.2	2370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTATCTTTT	NONE	byFrequency	.	TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	11/12	.	.	.	.	.	.	.	.	rs749498066	11/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,synonymous_variant,p.%3D,ENST00000502753,;TRPC7,synonymous_variant,p.%3D,ENST00000355180,;TRPC7,synonymous_variant,p.%3D,ENST00000352189,;TRPC7,synonymous_variant,p.%3D,ENST00000513104,;TRPC7,synonymous_variant,p.%3D,ENST00000378459,;TRPC7,synonymous_variant,p.%3D,ENST00000426057,;TRPC7-AS1,intron_variant,,ENST00000514459,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,non_coding_transcript_exon_variant,,ENST00000509288,;	2653	49	69	SUCCESS
IRX1	79192	.	GRCh37	5	3599701	3599701	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	58	170	0	ENST00000302006.3:c.639C>G	p.Asp213Glu	p.D213E	ENST00000302006	NM_024337.3	213	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS34132.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGACCCGGA	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.61)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Asp213Glu,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	691	170	213	SUCCESS
FAM174A	345757	.	GRCh37	5	99871534	99871534	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	76	0	ENST00000312637.4:c.300C>T	p.Ala100=	p.A100=	ENST00000312637	NM_198507.1	100	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4090.1	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCGGGGA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF06679	.	.	ENSP00000307954	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000312637	Transcript	.	.	ENSG00000174132	24943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F174A_HUMAN	FAM174A	HGNC	.	.	UPI000004BA6F	SNV	FAM174A,synonymous_variant,p.%3D,ENST00000312637,;CTD-2001C12.1,upstream_gene_variant,,ENST00000499025,;CTD-2001C12.1,upstream_gene_variant,,ENST00000504833,;FAM174A,non_coding_transcript_exon_variant,,ENST00000509040,;	526	76	109	SUCCESS
CEP57L1	285753	.	GRCh37	6	109484145	109484145	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1248231743	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	86	302	0	ENST00000359793.3:c.1355G>A	p.Arg452Lys	p.R452K	ENST00000359793	NM_173830.4	452	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS5071.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGAGAAGAG	NONE	.	.	hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF10	.	.	ENSP00000383936	.	13/13	.	.	.	.	.	.	.	.	COSM483252	13/13	PASS	ENST00000407272	Transcript	.	.	ENSG00000183137	21561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.529)	.	tolerated(1)	1	CE57L_HUMAN	CEP57L1	HGNC	E5RK85_HUMAN,E5RJP9_HUMAN,E5RJG4_HUMAN,E5RIK8_HUMAN,E5RI49_HUMAN,E5RHF8_HUMAN,E5RH23_HUMAN,E5RG82_HUMAN,E5RG21_HUMAN	.	UPI00000741C4	SNV	CEP57L1,missense_variant,p.Arg352Lys,ENST00000520883,;CEP57L1,missense_variant,p.Arg352Lys,ENST00000336977,;CEP57L1,missense_variant,p.Arg399Lys,ENST00000521522,;CEP57L1,missense_variant,p.Arg469Lys,ENST00000368970,;CEP57L1,missense_variant,p.Arg452Lys,ENST00000407272,;CEP57L1,missense_variant,p.Arg455Lys,ENST00000523787,;CEP57L1,missense_variant,p.Arg452Lys,ENST00000517392,;CEP57L1,missense_variant,p.Arg452Lys,ENST00000359793,;CEP57L1,3_prime_UTR_variant,,ENST00000368968,;CEP57L1,downstream_gene_variant,,ENST00000523174,;CEP57L1,downstream_gene_variant,,ENST00000522490,;CEP57L1,downstream_gene_variant,,ENST00000521277,;CEP57L1,downstream_gene_variant,,ENST00000520761,;CEP57L1,downstream_gene_variant,,ENST00000520610,;C6orf183,upstream_gene_variant,,ENST00000417143,;	1932	302	311	SUCCESS
VGLL2	245806	.	GRCh37	6	117589516	117589516	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	272	10	259	1	ENST00000326274.5:c.253T>A	p.Cys85Ser	p.C85S	ENST00000326274	NM_182645.3	85	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS5115.1	253	MUTECT|MUSE	.	CCCGCTGCGTC	NONE	.	.	hmmpanther:PTHR15950:SF17,hmmpanther:PTHR15950,Pfam_domain:PF07545	.	.	ENSP00000320957	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000326274	Transcript	.	.	ENSG00000170162	20232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	VGLL2_HUMAN	VGLL2	HGNC	.	.	UPI000006FF57	SNV	VGLL2,missense_variant,p.Cys85Ser,ENST00000352536,;VGLL2,missense_variant,p.Cys85Ser,ENST00000326274,;	443	260	282	SUCCESS
TBC1D32	221322	.	GRCh37	6	121563446	121563446	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	10	135	0	ENST00000398212.2:c.2058T>C	p.His686=	p.H686=	ENST00000398212	NM_152730.4	686	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS43501.1	2058	MUTECT|MUSE|VARSCANS	.	GCAAAATGTAG	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,synonymous_variant,p.%3D,ENST00000398212,;TBC1D32,synonymous_variant,p.%3D,ENST00000275159,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	2108	135	113	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151107580	151107580	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202129963	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	11	161	0	ENST00000358517.2:c.567G>T	p.Glu189Asp	p.E189D	ENST00000358517		189	gaG/gaT	0	.	T:0.0015	.	T:0	.	T	E/D	protein_coding	YES	CCDS34552.1	567	MUTECT|MUSE	.	GCAGAGTGTTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF90,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	T:0	.	ENSP00000356297	T:0	5/17	.	.	.	.	.	.	.	.	rs202129963	5/17	PASS	ENST00000367328	Transcript	.	T:0.0004	ENSG00000120278	20884	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.262)	T:0	tolerated(0.14)	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	SNV	PLEKHG1,missense_variant,p.Glu189Asp,ENST00000367328,;PLEKHG1,missense_variant,p.Glu189Asp,ENST00000358517,;PLEKHG1,missense_variant,p.Glu36Asp,ENST00000475490,;	879	161	173	SUCCESS
SMOC2	64094	.	GRCh37	6	168910669	168910669	+	synonymous_variant	Silent	SNP	C	C	T	rs149109716	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	45	139	0	ENST00000356284.2:c.159C>T	p.Cys53=	p.C53=	ENST00000356284	NM_001166412.1	53	tgC/tgT	0	T:0.0007	T:0	.	T:0.0014	.	T	C	protein_coding	YES	CCDS5307.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCGCATC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF100895,SMART_domains:SM00280,Gene3D:3.30.60.30,Pfam_domain:PF07648,hmmpanther:PTHR12352:SF11,hmmpanther:PTHR12352,PROSITE_profiles:PS51465	T:0	T:0.0007	ENSP00000346537	T:0	2/13	.	.	.	.	.	.	.	.	rs149109716	2/13	common_in_exac	ENST00000354536	Transcript	.	T:0.0008	ENSG00000112562	20323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0031	.	.	SMOC2_HUMAN	SMOC2	HGNC	B4DNB1_HUMAN	.	UPI0000072A56	SNV	SMOC2,synonymous_variant,p.%3D,ENST00000356284,;SMOC2,synonymous_variant,p.%3D,ENST00000354536,;	379	139	153	SUCCESS
C6orf47-AS1	106480731	.	GRCh37	6	31627264	31627264	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	75	0	ENST00000422049.1:n.351+808A>G		p.*117*	ENST00000422049		154		0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34399.1	461	MUTECT|MUSE	.	CCAACAGCTTC	NONE	.	.	hmmpanther:PTHR14307:SF0,hmmpanther:PTHR14307,Pfam_domain:PF15576	.	.	ENSP00000365076	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375911	Transcript	.	.	ENSG00000204439	19076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	CF047_HUMAN	C6orf47	HGNC	.	.	UPI000014109C	SNV	C6orf47,missense_variant,p.Leu154Pro,ENST00000375911,;GPANK1,downstream_gene_variant,,ENST00000375906,;APOM,downstream_gene_variant,,ENST00000375920,;APOM,downstream_gene_variant,,ENST00000375918,;APOM,downstream_gene_variant,,ENST00000375916,;GPANK1,downstream_gene_variant,,ENST00000445768,;GPANK1,downstream_gene_variant,,ENST00000458083,;GPANK1,downstream_gene_variant,,ENST00000375900,;GPANK1,downstream_gene_variant,,ENST00000375895,;GPANK1,downstream_gene_variant,,ENST00000375896,;GPANK1,downstream_gene_variant,,ENST00000375893,;GPANK1,downstream_gene_variant,,ENST00000456540,;C6orf47-AS1,intron_variant,,ENST00000422049,;Y_RNA,upstream_gene_variant,,ENST00000364337,;	1286	75	78	SUCCESS
GPR115	0	.	GRCh37	6	47681900	47681900	+	synonymous_variant	Silent	SNP	T	T	C	rs1166060613	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	8	106	0	ENST00000283303.2:c.919T>C	p.Leu307=	p.L307=	ENST00000283303	NM_153838.3	307	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4922.2	919	MUTECT|MUSE|VARSCANS	.	CCCACTTGCAA	NONE	.	.	hmmpanther:PTHR12011:SF229,hmmpanther:PTHR12011	.	.	ENSP00000283303	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000283303	Transcript	.	.	ENSG00000153294	19011	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP115_HUMAN	GPR115	HGNC	.	.	UPI000046FF2B	SNV	GPR115,synonymous_variant,p.%3D,ENST00000283303,;GPR115,synonymous_variant,p.%3D,ENST00000327753,;GPR115,synonymous_variant,p.%3D,ENST00000371220,;RN7SKP116,upstream_gene_variant,,ENST00000516902,;	1177	106	102	SUCCESS
PRIM2	5558	.	GRCh37	6	57244762	57244762	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	14	133	0	ENST00000607273.1:c.523G>T	p.Gly175Ter	p.G175*	ENST00000607273	NM_000947.3	175	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	.	523	RADIA|MUTECT|MUSE	.	TAAGTGGACTT	NONE	.	.	hmmpanther:PTHR10537:SF3,hmmpanther:PTHR10537	.	.	ENSP00000475738	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,stop_gained,p.Gly175Ter,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;PRIM2,non_coding_transcript_exon_variant,,ENST00000490313,;PRIM2,non_coding_transcript_exon_variant,,ENST00000419977,;	610	133	149	SUCCESS
IBTK	25998	.	GRCh37	6	82941527	82941527	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	88	0	ENST00000306270.7:c.451A>G	p.Thr151Ala	p.T151A	ENST00000306270	NM_015525.2	151	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34490.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTATTAT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,Pfam_domain:PF00415,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000305721	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000306270	Transcript	.	.	ENSG00000005700	17853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.2)	.	IBTK_HUMAN	IBTK	HGNC	.	.	UPI000041929F	SNV	IBTK,missense_variant,p.Thr151Ala,ENST00000510291,;IBTK,missense_variant,p.Thr151Ala,ENST00000503631,;IBTK,missense_variant,p.Thr151Ala,ENST00000306270,;IBTK,missense_variant,p.Thr151Ala,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;	1001	88	78	SUCCESS
PNRC1	10957	.	GRCh37	6	89793582	89793582	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	298	22	344	0	ENST00000336032.3:c.651A>C	p.Lys217Asn	p.K217N	ENST00000336032	NM_006813.2	217	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS5018.1	651	MUTECT|MUSE	.	AGCAAATATAA	NONE	.	.	hmmpanther:PTHR15405:SF4,hmmpanther:PTHR15405	.	.	ENSP00000336931	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000336032	Transcript	.	.	ENSG00000146278	17278	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	PNRC1_HUMAN	PNRC1	HGNC	Q49A59_HUMAN	.	UPI0000052C62	SNV	PNRC1,missense_variant,p.Lys32Asn,ENST00000369472,;PNRC1,missense_variant,p.Lys32Asn,ENST00000354922,;PNRC1,missense_variant,p.Lys217Asn,ENST00000336032,;RP11-63L7.5,upstream_gene_variant,,ENST00000606729,;	768	344	320	SUCCESS
PRKAR2B	5577	.	GRCh37	7	106799922	106799922	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	83	0	ENST00000265717.4:c.1152T>C	p.Leu384=	p.L384=	ENST00000265717	NM_002736.2	384	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS5740.1	1152	MUTECT|MUSE|VARSCANS	.	AGGCTTCTGGG	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000548,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000265717	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000265717	Transcript	.	.	ENSG00000005249	9392	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAP3_HUMAN	PRKAR2B	HGNC	Q75MP1_HUMAN,O60380_HUMAN,A3R6R8_HUMAN	.	UPI000013D669	SNV	PRKAR2B,synonymous_variant,p.%3D,ENST00000265717,;	1411	83	89	SUCCESS
LAMB1	3912	.	GRCh37	7	107605124	107605124	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139348334	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	60	0	ENST00000222399.6:c.1571C>T	p.Ala524Val	p.A524V	ENST00000222399	NM_002291.2	524	gCg/gTg	0	A:0.0027	A:0.0038	.	A:0	.	A	A/V	protein_coding	YES	CCDS5750.1	1571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGCAAAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	A:0	A:0	ENSP00000222399	A:0	14/34	.	.	.	.	.	.	.	.	rs139348334	14/34	PASS	ENST00000222399	Transcript	.	A:0.0010	ENSG00000091136	6486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	A:0	tolerated(0.29)	.	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	SNV	LAMB1,missense_variant,p.Ala548Val,ENST00000393561,;LAMB1,missense_variant,p.Ala524Val,ENST00000393560,;LAMB1,missense_variant,p.Ala524Val,ENST00000222399,;	1802	60	72	SUCCESS
GTF2I	2969	.	GRCh37	7	74114378	74114378	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	22	0	ENST00000324896.4:c.374-199C>T		p.*125*	ENST00000324896	NM_032999.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5573.1	.	MUTECT|MUSE	.	CTTTTCATTTT	NONE	.	.	.	.	.	ENSP00000322542	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324896	Transcript	.	.	ENSG00000077809	4659	.	.	MODIFIER	4/34	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GTF2I_HUMAN	GTF2I	HGNC	C9J6M0_HUMAN,B4DRA9_HUMAN,B4DM07_HUMAN,B4DH52_HUMAN	.	UPI0000001233	SNV	GTF2I,intron_variant,,ENST00000443166,;GTF2I,intron_variant,,ENST00000324896,;GTF2I,intron_variant,,ENST00000353920,;GTF2I,intron_variant,,ENST00000346152,;GTF2I,intron_variant,,ENST00000416070,;GTF2I,downstream_gene_variant,,ENST00000432143,;AC083884.8,non_coding_transcript_exon_variant,,ENST00000434256,;AC083884.8,intron_variant,,ENST00000450426,;AC083884.8,downstream_gene_variant,,ENST00000594967,;AC083884.8,downstream_gene_variant,,ENST00000601921,;STAG3L2,intron_variant,,ENST00000380775,;	.	22	28	SUCCESS
MAGI2	9863	.	GRCh37	7	77649121	77649121	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758491046	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	50	0	ENST00000354212.4:c.3879C>A	p.Asp1293Glu	p.D1293E	ENST00000354212	NM_012301.3	1293	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5594.1	3879	MUTECT|MUSE	.	CTAACGTCGTG	NONE	byFrequency	.	.	.	.	ENSP00000346151	.	22/22	.	.	.	.	.	.	.	.	rs758491046	22/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.964)	.	tolerated(0.87)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Asp1293Glu,ENST00000354212,;MAGI2,missense_variant,p.Asp1279Glu,ENST00000419488,;MAGI2,3_prime_UTR_variant,,ENST00000522391,;	4133	50	57	SUCCESS
ZKSCAN5	23660	.	GRCh37	7	99128958	99128958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs965851355	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	36	135	0	ENST00000326775.5:c.1606C>T	p.Pro536Ser	p.P536S	ENST00000326775	NM_145102.2	536	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS5667.1	1606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCCCATAT	NONE	.	.	hmmpanther:PTHR24377:SF214,hmmpanther:PTHR24377	.	.	ENSP00000377725	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000394170	Transcript	.	.	ENSG00000196652	12867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.79)	.	ZKSC5_HUMAN	ZKSCAN5	HGNC	Q75MV2_HUMAN,J7M2L3_HUMAN,J7M2K9_HUMAN	.	UPI000013C3AC	SNV	ZKSCAN5,missense_variant,p.Pro536Ser,ENST00000394170,;ZKSCAN5,missense_variant,p.Pro536Ser,ENST00000326775,;ZKSCAN5,missense_variant,p.Pro536Ser,ENST00000451158,;ZKSCAN5,3_prime_UTR_variant,,ENST00000454175,;	1857	135	166	SUCCESS
BAI1	0	.	GRCh37	8	143623714	143623714	+	synonymous_variant	Silent	SNP	G	G	A	rs779785088	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	9	36	0	ENST00000323289.5:c.4119G>A	p.Pro1373=	p.P1373=	ENST00000323289	NM_001702.2	1373	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS64985.1	4119	MUTECT|MUSE|VARSCANS	.	ATGCCGCAGAC	NONE	.	.	.	.	.	ENSP00000430945	.	28/31	.	.	.	.	.	.	.	.	rs779785088	28/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,synonymous_variant,p.%3D,ENST00000323289,;BAI1,synonymous_variant,p.%3D,ENST00000517894,;BAI1,3_prime_UTR_variant,,ENST00000521208,;BAI1,upstream_gene_variant,,ENST00000518812,;BAI1,downstream_gene_variant,,ENST00000518820,;	5013	37	95	SUCCESS
TEX15	56154	.	GRCh37	8	30695229	30695229	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	124	0	ENST00000256246.2:c.7422G>T	p.Gly2474=	p.G2474=	ENST00000256246	NM_031271.3	2474	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6080.1	7422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCCCATG	NONE	.	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	.	.	ENSP00000256246	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000256246	Transcript	.	.	ENSG00000133863	11738	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,synonymous_variant,p.%3D,ENST00000256246,;	7497	124	87	SUCCESS
PRDM14	63978	.	GRCh37	8	70971011	70971011	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	104	0	ENST00000276594.2:c.1250A>C	p.Lys417Thr	p.K417T	ENST00000276594	NM_024504.3	417	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS6206.1	1250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTTATCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354,Pfam_domain:PF13894,SMART_domains:SM00355	.	.	ENSP00000276594	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000276594	Transcript	.	.	ENSG00000147596	14001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	PRD14_HUMAN	PRDM14	HGNC	C9JMM8_HUMAN	.	UPI0000132186	SNV	PRDM14,missense_variant,p.Lys417Thr,ENST00000276594,;	1452	104	105	SUCCESS
WNK2	65268	.	GRCh37	9	96054796	96054796	+	synonymous_variant	Silent	SNP	T	T	A	rs780482750	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	97	0	ENST00000297954.4:c.5160T>A	p.Pro1720=	p.P1720=	ENST00000297954	NM_001282394.1	1720	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	.	5160	RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGCACG	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	23/30	.	.	.	.	.	.	.	.	rs780482750	23/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,synonymous_variant,p.%3D,ENST00000432730,;WNK2,synonymous_variant,p.%3D,ENST00000427277,;WNK2,synonymous_variant,p.%3D,ENST00000349097,;WNK2,synonymous_variant,p.%3D,ENST00000411624,;WNK2,synonymous_variant,p.%3D,ENST00000297954,;WNK2,synonymous_variant,p.%3D,ENST00000356055,;WNK2,synonymous_variant,p.%3D,ENST00000453718,;WNK2,synonymous_variant,p.%3D,ENST00000448251,;WNK2,synonymous_variant,p.%3D,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	5160	98	76	SUCCESS
ARMCX1	51309	.	GRCh37	X	100808335	100808335	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	57	71	0	ENST00000372829.3:c.422G>C	p.Ser141Thr	p.S141T	ENST00000372829	NM_016608.1	141	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS14487.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGAGTTTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF14	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	deleterious_low_confidence(0.02)	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,missense_variant,p.Ser141Thr,ENST00000372829,;	793	71	90	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83419338	83419338	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	30	309	0	ENST00000262752.2:c.139C>A	p.His47Asn	p.H47N	ENST00000262752	NM_014496.4	47	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS14451.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	TACATGACAAG	NONE	.	.	PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351	.	.	ENSP00000262752	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.45)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.His47Asn,ENST00000262752,;RPS6KA6,missense_variant,p.His47Asn,ENST00000543399,;RPS6KA6,splice_region_variant,,ENST00000460730,;	147	309	266	SUCCESS
LOXL4	84171	.	GRCh37	10	100013487	100013487	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	79	0	ENST00000260702.3:c.1658T>A	p.Leu553His	p.L553H	ENST00000260702	NM_032211.6	553	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7473.1	1658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGAGCGGG	NONE	.	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,Pfam_domain:PF01186,Prints_domain:PR00074	.	.	ENSP00000260702	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000260702	Transcript	.	.	ENSG00000138131	17171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	LOXL4_HUMAN	LOXL4	HGNC	.	.	UPI0000046706	SNV	LOXL4,missense_variant,p.Leu553His,ENST00000260702,;RP11-34A14.3,intron_variant,,ENST00000433374,;	1809	79	72	SUCCESS
MGEA5	0	.	GRCh37	10	103557782	103557782	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs746844571	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	85	0	ENST00000361464.3:c.1939A>T	p.Ile647Phe	p.I647F	ENST00000361464	NM_012215.3	647	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS7520.1	1939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGATATCCC	NONE	.	.	hmmpanther:PTHR13170,hmmpanther:PTHR13170:SF16	.	.	ENSP00000354850	.	10/16	.	.	.	.	.	.	.	.	rs746844571	10/16	PASS	ENST00000361464	Transcript	.	.	ENSG00000198408	7056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NCOAT_HUMAN	MGEA5	HGNC	B3KMK2_HUMAN	.	UPI0000073533	SNV	MGEA5,missense_variant,p.Ile594Phe,ENST00000357797,;MGEA5,missense_variant,p.Ile594Phe,ENST00000439817,;MGEA5,missense_variant,p.Ile647Phe,ENST00000370094,;MGEA5,missense_variant,p.Ile647Phe,ENST00000361464,;MGEA5,non_coding_transcript_exon_variant,,ENST00000482611,;MGEA5,upstream_gene_variant,,ENST00000479811,;MGEA5,upstream_gene_variant,,ENST00000492204,;	2335	85	67	SUCCESS
SMC3	9126	.	GRCh37	10	112327522	112327522	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	369	119	447	0	ENST00000361804.4:c.-53C>T		p.*18*	ENST00000361804	NM_005445.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCGTGCG	NONE	.	.	.	.	.	ENSP00000354720	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000361804	Transcript	1	.	ENSG00000108055	2468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC3_HUMAN	SMC3	HGNC	.	.	UPI0000135A8D	SNV	SMC3,5_prime_UTR_variant,,ENST00000361804,;SMC3,upstream_gene_variant,,ENST00000462899,;	74	447	489	SUCCESS
SEC23IP	11196	.	GRCh37	10	121658156	121658156	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	7	139	0	ENST00000369075.3:c.381A>T	p.Gln127His	p.Q127H	ENST00000369075	NM_007190.3	127	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7618.1	381	MUTECT|MUSE	.	TCCCAAGATGT	BUFFER|p.S130S|c.390G>A|4	.	.	hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25	.	.	ENSP00000358071	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000369075	Transcript	.	.	ENSG00000107651	17018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.17)	.	S23IP_HUMAN	SEC23IP	HGNC	.	.	UPI000006FCCE	SNV	SEC23IP,missense_variant,p.Gln127His,ENST00000369075,;SEC23IP,intron_variant,,ENST00000543134,;SEC23IP,upstream_gene_variant,,ENST00000442952,;SEC23IP,upstream_gene_variant,,ENST00000446561,;SEC23IP,downstream_gene_variant,,ENST00000470478,;	453	139	191	SUCCESS
ADAM12	8038	.	GRCh37	10	127753435	127753435	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	58	0	ENST00000368679.4:c.1558T>C	p.Tyr520His	p.Y520H	ENST00000368679	NM_003474.4	520	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS7653.1	1558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTAGCCGT	NONE	.	.	hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000357668	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious(0.01)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Tyr520His,ENST00000368679,;ADAM12,missense_variant,p.Tyr520His,ENST00000368676,;ADAM12,non_coding_transcript_exon_variant,,ENST00000467145,;ADAM12,non_coding_transcript_exon_variant,,ENST00000482291,;	1868	58	47	SUCCESS
GDI2	2665	.	GRCh37	10	5836921	5836921	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	76	133	0	ENST00000380191.4:c.315T>A	p.Thr105=	p.T105=	ENST00000380191	NM_001494.3	105	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7071.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCAGTCAC	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF1,Pfam_domain:PF00996,Gene3D:3.30.519.10,Superfamily_domains:SSF51905	.	.	ENSP00000369538	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000380191	Transcript	.	.	ENSG00000057608	4227	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDIB_HUMAN	GDI2	HGNC	Q6IAT1_HUMAN,B3KVE3_HUMAN	.	UPI000012B39E	SNV	GDI2,synonymous_variant,p.%3D,ENST00000609712,;GDI2,synonymous_variant,p.%3D,ENST00000456041,;GDI2,synonymous_variant,p.%3D,ENST00000380132,;GDI2,synonymous_variant,p.%3D,ENST00000380191,;GDI2,synonymous_variant,p.%3D,ENST00000380127,;GDI2,synonymous_variant,p.%3D,ENST00000608581,;GDI2,synonymous_variant,p.%3D,ENST00000418688,;GDI2,intron_variant,,ENST00000380181,;	606	133	155	SUCCESS
RTKN2	219790	.	GRCh37	10	63958086	63958086	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	53	90	0	ENST00000373789.3:c.1411G>C	p.Ala471Pro	p.A471P	ENST00000373789	NM_145307.2	471	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS7263.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCCAAG	NONE	.	.	.	.	.	ENSP00000362894	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(0.1)	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,missense_variant,p.Ala471Pro,ENST00000373789,;RTKN2,missense_variant,p.Ala492Pro,ENST00000395265,;RTKN2,missense_variant,p.Ala273Pro,ENST00000315289,;	1508	90	98	SUCCESS
SFMBT2	57713	.	GRCh37	10	7217971	7217971	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	47	73	0	ENST00000361972.4:c.1965T>C	p.Ile655=	p.I655=	ENST00000361972	NM_001018039.1	655	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS31138.1	1965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGAATGGA	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62	.	.	ENSP00000355109	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,synonymous_variant,p.%3D,ENST00000361972,;SFMBT2,synonymous_variant,p.%3D,ENST00000397167,;	2056	73	87	SUCCESS
P4HA1	5033	.	GRCh37	10	74810812	74810812	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	54	83	0	ENST00000307116.2:c.899T>C	p.Met300Thr	p.M300T	ENST00000307116		300	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS41537.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCATTTTG	NONE	.	.	hmmpanther:PTHR10869:SF40,hmmpanther:PTHR10869,Gene3D:1.25.40.10	.	.	ENSP00000411688	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000412021	Transcript	.	.	ENSG00000122884	8546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.171)	.	deleterious(0.02)	.	P4HA1_HUMAN	P4HA1	HGNC	.	.	UPI0000001C27	SNV	P4HA1,missense_variant,p.Met300Thr,ENST00000307116,;P4HA1,missense_variant,p.Met300Thr,ENST00000440381,;P4HA1,missense_variant,p.Met300Thr,ENST00000394890,;P4HA1,missense_variant,p.Met300Thr,ENST00000412021,;P4HA1,missense_variant,p.Met300Thr,ENST00000263556,;P4HA1,missense_variant,p.Met300Thr,ENST00000373008,;	1233	83	92	SUCCESS
MIR346	442911	.	GRCh37	10	88024472	88024472	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	82	0	ENST00000362234.2:n.74T>A		p.*25*	ENST00000362234				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31236.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCAGGCCC	NONE	.	.	.	.	.	ENSP00000330148	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327946	Transcript	.	.	ENSG00000182771	4575	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRID1_HUMAN	GRID1	HGNC	B7Z7L0_HUMAN	.	UPI00001D8051	SNV	GRID1,intron_variant,,ENST00000327946,;MIR346,non_coding_transcript_exon_variant,,ENST00000362234,;GRID1,intron_variant,,ENST00000464741,;	.	82	69	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120350697	120350697	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	36	110	0	ENST00000397843.2:c.3795A>T	p.Gln1265His	p.Q1265H	ENST00000397843	NM_015313.2	1265	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS41727.1	3795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAACAGCT	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8,Low_complexity_(Seg):seg	.	.	ENSP00000380942	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.2)	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,missense_variant,p.Gln1162His,ENST00000532993,;ARHGEF12,missense_variant,p.Gln1265His,ENST00000397843,;ARHGEF12,missense_variant,p.Gln1246His,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000526067,;ARHGEF12,downstream_gene_variant,,ENST00000528681,;ARHGEF12,downstream_gene_variant,,ENST00000529970,;	3961	110	99	SUCCESS
PARVA	55742	.	GRCh37	11	12535004	12535004	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	65	0	ENST00000334956.8:c.918+97T>C		p.*306*	ENST00000334956	NM_018222.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44541.2	.	MUTECT|MUSE	.	AGAACTGGTGG	NONE	.	.	.	.	.	ENSP00000334008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334956	Transcript	.	.	ENSG00000197702	14652	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PARVA	HGNC	J3KNQ4_HUMAN	.	UPI0000EE3866	SNV	PARVA,missense_variant,p.Trp246Arg,ENST00000538608,;PARVA,intron_variant,,ENST00000334956,;PARVA,intron_variant,,ENST00000539723,;PARVA,intron_variant,,ENST00000550549,;PARVA,downstream_gene_variant,,ENST00000528916,;PARVA,non_coding_transcript_exon_variant,,ENST00000533345,;	.	65	43	SUCCESS
PARVA	55742	.	GRCh37	11	12535012	12535012	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	59	0	ENST00000334956.8:c.918+105T>C		p.*306*	ENST00000334956	NM_018222.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44541.2	.	MUTECT|MUSE	.	TGGCATCACCT	NONE	.	.	.	.	.	ENSP00000334008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334956	Transcript	.	.	ENSG00000197702	14652	.	.	MODIFIER	9/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PARVA	HGNC	J3KNQ4_HUMAN	.	UPI0000EE3866	SNV	PARVA,synonymous_variant,p.%3D,ENST00000538608,;PARVA,intron_variant,,ENST00000334956,;PARVA,intron_variant,,ENST00000539723,;PARVA,intron_variant,,ENST00000550549,;PARVA,downstream_gene_variant,,ENST00000528916,;PARVA,non_coding_transcript_exon_variant,,ENST00000533345,;	.	59	35	SUCCESS
WT1	7490	.	GRCh37	11	32456885	32456885	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	48	186	0	ENST00000332351.3:c.7G>A	p.Asp3Asn	p.D3N	ENST00000332351	NM_024426.4	3	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS7878.2	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTCCTGCA	NONE	.	.	.	.	.	ENSP00000331327	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.01)	.	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,missense_variant,p.Asp3Asn,ENST00000332351,;WT1,missense_variant,p.Asp3Asn,ENST00000448076,;WT1,missense_variant,p.Asp3Asn,ENST00000452863,;WT1,upstream_gene_variant,,ENST00000379079,;WT1,upstream_gene_variant,,ENST00000530998,;WT1-AS,upstream_gene_variant,,ENST00000426618,;WT1-AS,upstream_gene_variant,,ENST00000525436,;WT1-AS,upstream_gene_variant,,ENST00000395900,;WT1-AS,upstream_gene_variant,,ENST00000459866,;WT1-AS,upstream_gene_variant,,ENST00000442957,;WT1-AS,upstream_gene_variant,,ENST00000478367,;WT1-AS,upstream_gene_variant,,ENST00000494911,;WT1,missense_variant,p.Asp3Asn,ENST00000379077,;	292	186	139	SUCCESS
CAT	847	.	GRCh37	11	34478274	34478274	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	155	0	ENST00000241052.4:c.966A>G	p.Pro322=	p.P322=	ENST00000241052	NM_001752.3	322	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7891.1	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCAGTTAA	NONE	.	.	Prints_domain:PR00067,Superfamily_domains:SSF56634,SMART_domains:SM01060,PIRSF_domain:PIRSF038928,Gene3D:2.40.180.10,Pfam_domain:PF00199,hmmpanther:PTHR11465,PROSITE_profiles:PS51402	.	.	ENSP00000241052	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000241052	Transcript	.	.	ENSG00000121691	1516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATA_HUMAN	CAT	HGNC	Q8TAK2_HUMAN	.	UPI000002F090	SNV	CAT,synonymous_variant,p.%3D,ENST00000241052,;CAT,non_coding_transcript_exon_variant,,ENST00000528104,;CAT,upstream_gene_variant,,ENST00000525707,;CAT,upstream_gene_variant,,ENST00000530343,;	1055	155	111	SUCCESS
TTC17	55761	.	GRCh37	11	43418122	43418122	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	15	0	ENST00000039989.4:c.664-137A>G		p.*222*	ENST00000039989	NM_018259.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31466.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTATCATT	NONE	.	.	.	.	.	ENSP00000039989	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000039989	Transcript	.	.	ENSG00000052841	25596	.	.	MODIFIER	5/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC17_HUMAN	TTC17	HGNC	.	.	UPI000006E6C7	SNV	TTC17,intron_variant,,ENST00000039989,;TTC17,intron_variant,,ENST00000299240,;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;RP11-484D2.4,downstream_gene_variant,,ENST00000394183,;TTC17,downstream_gene_variant,,ENST00000530469,;TTC17,upstream_gene_variant,,ENST00000524936,;TTC17,upstream_gene_variant,,ENST00000525029,;TTC17,downstream_gene_variant,,ENST00000534347,;	.	15	16	SUCCESS
SLC43A1	8501	.	GRCh37	11	57252666	57252666	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	30	145	1	ENST00000278426.3:c.1583C>T	p.Ser528Phe	p.S528F	ENST00000278426	NM_003627.5	528	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7958.1	1583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGGAAGGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF0,Superfamily_domains:SSF103473	.	.	ENSP00000278426	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000278426	Transcript	.	.	ENSG00000149150	9225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.553)	.	tolerated(0.74)	.	LAT3_HUMAN	SLC43A1	HGNC	E9PJT8_HUMAN,B3KNL1_HUMAN	.	UPI0000071F2B	SNV	SLC43A1,missense_variant,p.Ser528Phe,ENST00000528450,;SLC43A1,missense_variant,p.Ser528Phe,ENST00000278426,;SLC43A1,downstream_gene_variant,,ENST00000525764,;SLC43A1,downstream_gene_variant,,ENST00000534298,;	1939	146	120	SUCCESS
SLC22A9	114571	.	GRCh37	11	63176251	63176251	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	36	138	0	ENST00000279178.3:c.1501A>G	p.Ile501Val	p.I501V	ENST00000279178	NM_080866.2	501	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8043.1	1501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCATCTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000279178	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000279178	Transcript	.	.	ENSG00000149742	16261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.33)	.	S22A9_HUMAN	SLC22A9	HGNC	A4PB24_HUMAN	.	UPI00000745FF	SNV	SLC22A9,missense_variant,p.Ile501Val,ENST00000279178,;SLC22A9,3_prime_UTR_variant,,ENST00000310969,;SLC22A9,intron_variant,,ENST00000536333,;	1750	138	104	SUCCESS
RAB30	27314	.	GRCh37	11	82693383	82693383	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs754885957	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	76	0	ENST00000260056.2:c.436A>G	p.Met146Val	p.M146V	ENST00000260056		146	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8264.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACATGTCCT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF364,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540	.	.	ENSP00000435189	.	6/6	.	.	.	.	.	.	.	.	rs754885957	6/6	PASS	ENST00000533486	Transcript	.	.	ENSG00000137502	9770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	tolerated(0.08)	.	RAB30_HUMAN	RAB30	HGNC	E9PS06_HUMAN,E9PRX0_HUMAN,E9PRF7_HUMAN,E9PQ07_HUMAN,E9PMJ1_HUMAN,E9PJQ5_HUMAN,E9PI18_HUMAN,A8K5R1_HUMAN	.	UPI000002356C	SNV	RAB30,missense_variant,p.Met146Val,ENST00000527633,;RAB30,missense_variant,p.Met146Val,ENST00000531021,;RAB30,missense_variant,p.Met110Val,ENST00000533014,;RAB30,missense_variant,p.Met146Val,ENST00000533486,;RAB30,missense_variant,p.Met146Val,ENST00000260056,;RAB30,synonymous_variant,p.%3D,ENST00000534141,;RAB30,downstream_gene_variant,,ENST00000525117,;RAB30,downstream_gene_variant,,ENST00000534301,;RP11-659G9.3,intron_variant,,ENST00000527550,;	721	76	70	SUCCESS
FAM71C	196472	.	GRCh37	12	100043076	100043076	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	93	0	ENST00000324341.1:c.626del	p.Met209ArgfsTer17	p.M209Rfs*17	ENST00000324341	NM_153364.3	209	aTg/ag	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS9072.1	626	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCCATGAAGT	NONE	.	.	hmmpanther:PTHR22574:SF11,hmmpanther:PTHR22574	.	.	ENSP00000315247	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000324341	Transcript	.	.	ENSG00000180219	28594	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA71C_HUMAN	FAM71C	HGNC	.	.	UPI0000073857	deletion	FAM71C,frameshift_variant,p.Met209ArgfsTer17,ENST00000324341,;ANKS1B,intron_variant,,ENST00000329257,;ANKS1B,intron_variant,,ENST00000549866,;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,intron_variant,,ENST00000547776,;ANKS1B,intron_variant,,ENST00000552232,;	1048	93	80	SUCCESS
HCAR2	338442	.	GRCh37	12	123187347	123187347	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	25	105	0	ENST00000328880.5:c.484C>A	p.Leu162Ile	p.L162I	ENST00000328880	NM_177551.3	162	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS9235.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGGTGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000375066	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328880	Transcript	.	.	ENSG00000182782	24827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	tolerated(0.09)	.	HCAR2_HUMAN	HCAR2	HGNC	.	.	UPI000003BCD5	SNV	HCAR2,missense_variant,p.Leu162Ile,ENST00000328880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;	544	105	135	SUCCESS
DNM1L	10059	.	GRCh37	12	32883956	32883977	+	frameshift_variant	Frame_Shift_Del	DEL	GTGCTAGAATTTGTTATATTTT	GTGCTAGAATTTGTTATATTTT	-	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	GTGCTAGAATTTGTTATATTTT	GTGCTAGAATTTGTTATATTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	140	0	ENST00000549701.1:c.1088_1109del	p.Gly363AlafsTer9	p.G363Afs*9	ENST00000549701		363	gGTGCTAGAATTTGTTATATTTTc/gc	0	.	.	.	.	.	-	GARICYIF/X	protein_coding	YES	CCDS8729.1	1088-1109	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGTGGTGCTAGAATTTGTTATATTTTCCATG	NONE	.	.	hmmpanther:PTHR11566:SF39,hmmpanther:PTHR11566,Pfam_domain:PF01031	.	.	ENSP00000450399	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000549701	Transcript	.	.	ENSG00000087470	2973	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DNM1L_HUMAN	DNM1L	HGNC	D3DUW5_HUMAN	.	UPI00000721A1	deletion	DNM1L,frameshift_variant,p.Gly363AlafsTer9,ENST00000266481,;DNM1L,frameshift_variant,p.Gly376AlafsTer9,ENST00000381000,;DNM1L,frameshift_variant,p.Gly363AlafsTer9,ENST00000452533,;DNM1L,frameshift_variant,p.Gly363AlafsTer9,ENST00000549701,;DNM1L,frameshift_variant,p.Gly376AlafsTer9,ENST00000553257,;DNM1L,frameshift_variant,p.Gly363AlafsTer9,ENST00000547312,;DNM1L,frameshift_variant,p.Gly160AlafsTer9,ENST00000414834,;DNM1L,frameshift_variant,p.Gly376AlafsTer9,ENST00000358214,;YARS2,intron_variant,,ENST00000551673,;DNM1L,3_prime_UTR_variant,,ENST00000413295,;DNM1L,3_prime_UTR_variant,,ENST00000546757,;DNM1L,3_prime_UTR_variant,,ENST00000546649,;DNM1L,3_prime_UTR_variant,,ENST00000434676,;DNM1L,upstream_gene_variant,,ENST00000550093,;DNM1L,upstream_gene_variant,,ENST00000547078,;DNM1L,upstream_gene_variant,,ENST00000548151,;DNM1L,upstream_gene_variant,,ENST00000552743,;RP11-278C7.1,upstream_gene_variant,,ENST00000550917,;	1162-1183	140	91	SUCCESS
ABCD2	225	.	GRCh37	12	40012907	40012907	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	90	248	0	ENST00000308666.3:c.511T>C	p.Leu171=	p.L171=	ENST00000308666	NM_005164.3	171	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8734.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAATTTGC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Pfam_domain:PF06472,Superfamily_domains:SSF90123	.	.	ENSP00000310688	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000308666	Transcript	.	.	ENSG00000173208	66	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCD2_HUMAN	ABCD2	HGNC	.	.	UPI000004C4C6	SNV	ABCD2,synonymous_variant,p.%3D,ENST00000308666,;	647	248	209	SUCCESS
HDAC7	51564	.	GRCh37	12	48179583	48179583	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	175	0	ENST00000427332.2:c.2541C>A	p.Ala847=	p.A847=	ENST00000427332		847	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8756.2	2658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATGGCTGT	NONE	.	.	hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF58,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768	.	.	ENSP00000080059	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000080059	Transcript	.	.	ENSG00000061273	14067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC7_HUMAN	HDAC7	HGNC	F8VWY3_HUMAN,C9JZ79_HUMAN,C9JS90_HUMAN,C9JNI4_HUMAN,C9JH46_HUMAN,C9JGF5_HUMAN,C9JBC2_HUMAN,C9J102_HUMAN	.	UPI00001D9A86	SNV	HDAC7,synonymous_variant,p.%3D,ENST00000552960,;HDAC7,synonymous_variant,p.%3D,ENST00000380610,;HDAC7,synonymous_variant,p.%3D,ENST00000354334,;HDAC7,synonymous_variant,p.%3D,ENST00000080059,;HDAC7,synonymous_variant,p.%3D,ENST00000548080,;HDAC7,synonymous_variant,p.%3D,ENST00000427332,;AC004466.1,3_prime_UTR_variant,,ENST00000599515,;SLC48A1,downstream_gene_variant,,ENST00000442218,;SLC48A1,downstream_gene_variant,,ENST00000442892,;HDAC7,downstream_gene_variant,,ENST00000488927,;HDAC7,downstream_gene_variant,,ENST00000477937,;HDAC7,upstream_gene_variant,,ENST00000549883,;HDAC7,synonymous_variant,p.%3D,ENST00000547259,;HDAC7,3_prime_UTR_variant,,ENST00000477203,;HDAC7,3_prime_UTR_variant,,ENST00000548938,;HDAC7,non_coding_transcript_exon_variant,,ENST00000459625,;HDAC7,non_coding_transcript_exon_variant,,ENST00000470668,;HDAC7,non_coding_transcript_exon_variant,,ENST00000471235,;SLC48A1,downstream_gene_variant,,ENST00000551301,;	2658	175	123	SUCCESS
GRASP	0	.	GRCh37	12	52400962	52400962	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	83	0	ENST00000293662.4:c.159C>A	p.Asp53Glu	p.D53E	ENST00000293662	NM_181711.3	53	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS8817.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGACGAGCT	NONE	.	.	hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF3	.	.	ENSP00000293662	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000293662	Transcript	.	.	ENSG00000161835	18707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.6)	.	GRASP_HUMAN	GRASP	HGNC	F8VRX5_HUMAN	.	UPI00001A9479	SNV	GRASP,missense_variant,p.Asp53Glu,ENST00000293662,;GRASP,upstream_gene_variant,,ENST00000380039,;GRASP,upstream_gene_variant,,ENST00000546756,;GRASP,upstream_gene_variant,,ENST00000552049,;GRASP,upstream_gene_variant,,ENST00000552963,;GRASP,upstream_gene_variant,,ENST00000547749,;GRASP,upstream_gene_variant,,ENST00000550809,;	239	83	85	SUCCESS
GRIP1	23426	.	GRCh37	12	66742927	66742927	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746868165	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	73	200	1	ENST00000359742.4:c.3259C>A	p.Leu1087Met	p.L1087M	ENST00000359742		1087	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS41807.1	3103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGTGGGT	NONE	.	.	hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000381098	.	24/24	.	.	.	.	.	.	.	.	rs746868165	24/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	deleterious(0.03)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Leu1020Met,ENST00000538211,;GRIP1,missense_variant,p.Leu887Met,ENST00000538164,;GRIP1,missense_variant,p.Leu1072Met,ENST00000286445,;GRIP1,missense_variant,p.Leu1035Met,ENST00000398016,;GRIP1,missense_variant,p.Leu1087Met,ENST00000359742,;GRIP1,3_prime_UTR_variant,,ENST00000540854,;snoU13,downstream_gene_variant,,ENST00000458887,;GRIP1,downstream_gene_variant,,ENST00000535323,;	3172	201	171	SUCCESS
SYT1	6857	.	GRCh37	12	79837902	79837902	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	135	0	ENST00000261205.4:c.978G>T	p.Lys326Asn	p.K326N	ENST00000261205	NM_005639.2	326	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS9017.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGAAAAA	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF183,hmmpanther:PTHR10024,PROSITE_profiles:PS50004,Low_complexity_(Seg):seg	.	.	ENSP00000261205	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000261205	Transcript	.	.	ENSG00000067715	11509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYT1_HUMAN	SYT1	HGNC	F8W1U9_HUMAN,F8VZY3_HUMAN,F8VYH8_HUMAN,F8VP93_HUMAN,C9JX50_HUMAN	.	UPI000013669A	SNV	SYT1,missense_variant,p.Lys323Asn,ENST00000457153,;SYT1,missense_variant,p.Lys326Asn,ENST00000393240,;SYT1,missense_variant,p.Lys326Asn,ENST00000261205,;SYT1,missense_variant,p.Lys326Asn,ENST00000552744,;RP1-78O14.1,intron_variant,,ENST00000550268,;RP1-78O14.1,intron_variant,,ENST00000549527,;RP1-78O14.1,intron_variant,,ENST00000553165,;	1635	135	87	SUCCESS
OTOGL	283310	.	GRCh37	12	80707277	80707277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	33	108	0	ENST00000547103.1:c.3445A>G	p.Lys1149Glu	p.K1149E	ENST00000547103		1149	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	.	3445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCAAAAAT	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	30/58	.	.	.	.	.	.	.	.	.	30/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Lys1149Glu,ENST00000458043,;OTOGL,missense_variant,p.Lys1149Glu,ENST00000547103,;	3451	108	91	SUCCESS
CLEC6A	93978	.	GRCh37	12	8612284	8612284	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	78	0	ENST00000382073.3:c.213A>G	p.Thr71=	p.T71=	ENST00000382073	NM_001007033.1	71	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31739.1	213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACAAAGGT	NONE	.	.	Superfamily_domains:SSF56436,Gene3D:3.10.100.10,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF10	.	.	ENSP00000371505	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000382073	Transcript	.	.	ENSG00000205846	14556	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC6A_HUMAN	CLEC6A	HGNC	.	.	UPI00003BE8D6	SNV	CLEC6A,synonymous_variant,p.%3D,ENST00000382073,;RP11-113C12.2,upstream_gene_variant,,ENST00000477936,;	399	78	59	SUCCESS
AMDHD1	144193	.	GRCh37	12	96360166	96360166	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	72	0	ENST00000266736.2:c.1073C>G	p.Ser358Cys	p.S358C	ENST00000266736	NM_152435.2	358	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS9057.1	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTCCATGC	NONE	.	.	hmmpanther:PTHR22642,hmmpanther:PTHR22642:SF1,Gene3D:3.20.20.140,Pfam_domain:PF13147,TIGRFAM_domain:TIGR01224,Superfamily_domains:SSF51556	.	.	ENSP00000266736	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000266736	Transcript	.	.	ENSG00000139344	28577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	HUTI_HUMAN	AMDHD1	HGNC	.	.	UPI000013D70B	SNV	AMDHD1,missense_variant,p.Ser358Cys,ENST00000266736,;AMDHD1,3_prime_UTR_variant,,ENST00000548310,;	1179	72	68	SUCCESS
MIR1251	100302289	.	GRCh37	12	97885709	97885709	+	mature_miRNA_variant	RNA	SNP	G	G	A	rs780390275	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	94	0	ENST00000408552.2:n.32G>A		p.*11*	ENST00000408552				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGCTTCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs780390275	1/1	PASS	ENST00000408552	Transcript	.	.	ENSG00000221479	35317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR1251	HGNC	.	.	.	SNV	MIR1251,mature_miRNA_variant,,ENST00000408552,;RMST,intron_variant,,ENST00000538559,;RMST,intron_variant,,ENST00000541282,;RMST,upstream_gene_variant,,ENST00000548886,;RMST,upstream_gene_variant,,ENST00000547996,;	32	94	53	SUCCESS
WASF3	10810	.	GRCh37	13	27255212	27255212	+	synonymous_variant	Silent	SNP	G	G	A	rs757584113	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	56	156	0	ENST00000335327.5:c.738G>A	p.Thr246=	p.T246=	ENST00000335327	NM_006646.5	246	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9318.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACGGATTA	BUFFER|p.V245I|c.733G>A|4	byFrequency	.	hmmpanther:PTHR12902:SF7,hmmpanther:PTHR12902	.	.	ENSP00000335055	.	8/10	.	.	.	.	.	.	.	.	rs757584113	8/10	PASS	ENST00000335327	Transcript	.	.	ENSG00000132970	12734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WASF3_HUMAN	WASF3	HGNC	Q5T8P4_HUMAN,B4DGR1_HUMAN	.	UPI000013CEA7	SNV	WASF3,synonymous_variant,p.%3D,ENST00000361042,;WASF3,synonymous_variant,p.%3D,ENST00000335327,;WASF3,downstream_gene_variant,,ENST00000496788,;	916	156	144	SUCCESS
FREM2	341640	.	GRCh37	13	39265017	39265018	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	98	36	138	0	ENST00000280481.7:c.3540dup	p.Ile1181HisfsTer8	p.I1181Hfs*8	ENST00000280481	NM_207361.4	1179	ttc/ttCc	0	.	.	.	.	.	C	F/FX	protein_coding	YES	CCDS31960.1	3536-3537	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCTTCCCCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	insertion	FREM2,frameshift_variant,p.Ile1181HisfsTer8,ENST00000280481,;	3752-3753	138	134	SUCCESS
SCEL	8796	.	GRCh37	13	78214917	78214917	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	32	92	0	ENST00000349847.3:c.1945A>T	p.Lys649Ter	p.K649*	ENST00000349847	NM_144777.2	649	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS9459.1	1945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTAAGGTA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,SMART_domains:SM00132	.	.	ENSP00000302579	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000349847	Transcript	.	.	ENSG00000136155	10573	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCEL_HUMAN	SCEL	HGNC	.	.	UPI000013CFF1	SNV	SCEL,stop_gained,p.Lys629Ter,ENST00000377246,;SCEL,stop_gained,p.Lys649Ter,ENST00000349847,;SCEL,stop_gained,p.Lys607Ter,ENST00000535157,;	2029	93	95	SUCCESS
TEP1	7011	.	GRCh37	14	20847196	20847196	+	synonymous_variant	Silent	SNP	G	G	C	rs764524084	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	46	157	0	ENST00000262715.5:c.5196C>G	p.Leu1732=	p.L1732=	ENST00000262715	NM_007110.4	1732	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9548.1	5196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGAGTGT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294	.	.	ENSP00000262715	.	36/55	.	.	.	.	.	.	.	.	rs764524084	36/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,synonymous_variant,p.%3D,ENST00000545983,;TEP1,synonymous_variant,p.%3D,ENST00000556935,;TEP1,synonymous_variant,p.%3D,ENST00000262715,;TEP1,synonymous_variant,p.%3D,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000471684,;TEP1,upstream_gene_variant,,ENST00000556488,;	5237	157	178	SUCCESS
ANG	283	.	GRCh37	14	21162046	21162046	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771940687	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	51	205	0	ENST00000336811.6:c.323A>T	p.His108Leu	p.H108L	ENST00000336811	NM_001145.4	108	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS9554.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACATGGAG	NONE	.	.	hmmpanther:PTHR11437:SF7,hmmpanther:PTHR11437,Gene3D:3.10.130.10,Pfam_domain:PF00074,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794	.	.	ENSP00000336762	.	2/2	.	.	.	.	.	.	.	.	rs771940687	2/2	PASS	ENST00000336811	Transcript	.	.	ENSG00000214274	483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.55)	.	ANGI_HUMAN	ANG	HGNC	.	.	UPI0000000F08	SNV	ANG,missense_variant,p.His108Leu,ENST00000397990,;ANG,missense_variant,p.His108Leu,ENST00000336811,;RNASE4,intron_variant,,ENST00000304704,;AL163636.6,intron_variant,,ENST00000553909,;RNASE4,intron_variant,,ENST00000555597,;RNASE4,intron_variant,,ENST00000397995,;RNASE4,intron_variant,,ENST00000555835,;RP11-903H12.3,intron_variant,,ENST00000554286,;ANG,intron_variant,,ENST00000554073,;	923	205	191	SUCCESS
RPGRIP1	57096	.	GRCh37	14	21790033	21790033	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1273869576	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	44	151	0	ENST00000400017.2:c.1632G>A	p.Met544Ile	p.M544I	ENST00000400017	NM_020366.3	544	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS45080.1	1632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGACAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3	.	.	ENSP00000382895	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000400017	Transcript	.	.	ENSG00000092200	13436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.07)	.	RPGR1_HUMAN	RPGRIP1	HGNC	.	.	UPI0000071B81	SNV	RPGRIP1,missense_variant,p.Met544Ile,ENST00000400017,;RPGRIP1,missense_variant,p.Met17Ile,ENST00000554303,;RPGRIP1,missense_variant,p.Met186Ile,ENST00000382933,;RPGRIP1,missense_variant,p.Met517Ile,ENST00000557771,;RPGRIP1,missense_variant,p.Met19Ile,ENST00000555587,;RPGRIP1,missense_variant,p.Met544Ile,ENST00000206660,;RPGRIP1,missense_variant,p.Met517Ile,ENST00000556336,;RPGRIP1,upstream_gene_variant,,ENST00000307974,;RPGRIP1,downstream_gene_variant,,ENST00000557351,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000553500,;RPGRIP1,3_prime_UTR_variant,,ENST00000555322,;RPGRIP1,upstream_gene_variant,,ENST00000555489,;RPGRIP1,upstream_gene_variant,,ENST00000553927,;	1632	151	147	SUCCESS
RPGRIP1	57096	.	GRCh37	14	21790034	21790034	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs756799100	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	153	0	ENST00000400017.2:c.1633A>T	p.Thr545Ser	p.T545S	ENST00000400017	NM_020366.3	545	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS45080.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGACAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3	.	.	ENSP00000382895	.	13/24	.	.	.	.	.	.	.	.	rs756799100	13/24	PASS	ENST00000400017	Transcript	.	.	ENSG00000092200	13436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	tolerated(0.11)	.	RPGR1_HUMAN	RPGRIP1	HGNC	.	.	UPI0000071B81	SNV	RPGRIP1,missense_variant,p.Thr545Ser,ENST00000400017,;RPGRIP1,missense_variant,p.Thr18Ser,ENST00000554303,;RPGRIP1,missense_variant,p.Thr187Ser,ENST00000382933,;RPGRIP1,missense_variant,p.Thr518Ser,ENST00000557771,;RPGRIP1,missense_variant,p.Thr20Ser,ENST00000555587,;RPGRIP1,missense_variant,p.Thr545Ser,ENST00000206660,;RPGRIP1,missense_variant,p.Thr518Ser,ENST00000556336,;RPGRIP1,upstream_gene_variant,,ENST00000307974,;RPGRIP1,downstream_gene_variant,,ENST00000557351,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000553500,;RPGRIP1,3_prime_UTR_variant,,ENST00000555322,;RPGRIP1,upstream_gene_variant,,ENST00000555489,;RPGRIP1,upstream_gene_variant,,ENST00000553927,;	1633	153	146	SUCCESS
STXBP6	29091	.	GRCh37	14	25325147	25325147	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	86	0	ENST00000323944.5:c.446T>C	p.Met149Thr	p.M149T	ENST00000323944		149	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS9634.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCATAATT	NONE	.	.	hmmpanther:PTHR16092,Gene3D:1.20.5.110	.	.	ENSP00000324302	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000323944	Transcript	.	.	ENSG00000168952	19666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.27)	.	STXB6_HUMAN	STXBP6	HGNC	.	.	UPI000006DD7D	SNV	STXBP6,missense_variant,p.Met149Thr,ENST00000358326,;STXBP6,missense_variant,p.Met149Thr,ENST00000550887,;STXBP6,missense_variant,p.Met149Thr,ENST00000419632,;STXBP6,missense_variant,p.Met149Thr,ENST00000396700,;STXBP6,missense_variant,p.Met149Thr,ENST00000546511,;STXBP6,missense_variant,p.Met149Thr,ENST00000323944,;STXBP6,missense_variant,p.Met149Thr,ENST00000548724,;STXBP6,3_prime_UTR_variant,,ENST00000548182,;	898	86	96	SUCCESS
FOXG1	2290	.	GRCh37	14	29236383	29236383	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	12	0	ENST00000313071.4:c.-103C>A		p.*35*	ENST00000313071	NM_005249.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9636.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCGCGCC	NONE	.	.	.	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,5_prime_UTR_variant,,ENST00000313071,;FOXG1,5_prime_UTR_variant,,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	267	12	33	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68257468	68257468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	49	145	0	ENST00000347230.4:c.2576A>T	p.Lys859Met	p.K859M	ENST00000347230	NM_015346.3	859	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS9788.1	2576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTTCAGG	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115	.	.	ENSP00000251119	.	15/42	.	.	.	.	.	.	.	.	.	15/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.04)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Lys859Met,ENST00000555452,;ZFYVE26,missense_variant,p.Lys859Met,ENST00000347230,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	2715	145	112	SUCCESS
PTPN21	11099	.	GRCh37	14	88945839	88945839	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs576261282	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	32	0	ENST00000328736.3:c.1936G>T	p.Gly646Cys	p.G646C	ENST00000328736		646	Ggc/Tgc	0	.	T:0	.	T:0	.	A	G/C	protein_coding	YES	CCDS9884.1	1936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGTGGC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR19134:SF78,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000934	T:0	.	ENSP00000452414	T:0	13/19	.	.	.	.	.	.	.	.	rs576261282	13/19	PASS	ENST00000556564	Transcript	.	T:0.0004	ENSG00000070778	9651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.758)	T:0.002	deleterious_low_confidence(0.01)	.	PTN21_HUMAN	PTPN21	HGNC	Q8WX29_HUMAN,G3V3S6_HUMAN	.	UPI000013D15F	SNV	PTPN21,missense_variant,p.Gly646Cys,ENST00000556564,;PTPN21,missense_variant,p.Gly646Cys,ENST00000328736,;PTPN21,3_prime_UTR_variant,,ENST00000536337,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,;	2221	32	29	SUCCESS
TTC8	123016	.	GRCh37	14	89336480	89336480	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	135	0	ENST00000380656.2:c.987C>G	p.Ile329Met	p.I329M	ENST00000380656	NM_144596.2	329	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS32137.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCGCATG	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13429,Gene3D:1.25.40.10,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF39,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000370031	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000380656	Transcript	1	.	ENSG00000165533	20087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.03)	.	TTC8_HUMAN	TTC8	HGNC	B3KSL8_HUMAN	.	UPI0000447156	SNV	TTC8,missense_variant,p.Ile131Met,ENST00000358622,;TTC8,missense_variant,p.Ile345Met,ENST00000338104,;TTC8,missense_variant,p.Ile90Met,ENST00000536576,;TTC8,missense_variant,p.Ile319Met,ENST00000345383,;TTC8,missense_variant,p.Ile279Met,ENST00000554686,;TTC8,missense_variant,p.Ile118Met,ENST00000557580,;TTC8,missense_variant,p.Ile289Met,ENST00000346301,;TTC8,missense_variant,p.Ile329Met,ENST00000380656,;TTC8,missense_variant,p.Ile64Met,ENST00000354441,;TTC8,3_prime_UTR_variant,,ENST00000555057,;	1033	135	102	SUCCESS
TBC1D2B	23102	.	GRCh37	15	78305207	78305207	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	71	113	0	ENST00000300584.3:c.2228C>A	p.Ser743Tyr	p.S743Y	ENST00000300584	NM_144572.1	743	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS45314.1	2228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGAGAAG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF231,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000300584	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000300584	Transcript	.	.	ENSG00000167202	29183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TBD2B_HUMAN	TBC1D2B	HGNC	Q69YW7_HUMAN,B2RTQ2_HUMAN	.	UPI0000E02247	SNV	TBC1D2B,missense_variant,p.Ser743Tyr,ENST00000409931,;TBC1D2B,missense_variant,p.Ser743Tyr,ENST00000300584,;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000472786,;	2228	113	88	SUCCESS
PRSS21	10942	.	GRCh37	16	2867809	2867809	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1212714453	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	83	0	ENST00000005995.3:c.99C>A	p.Cys33Ter	p.C33*	ENST00000005995		33	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS10478.1	99	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCGGCCG	NONE	.	.	Superfamily_domains:SSF50494,hmmpanther:PTHR24256:SF99,hmmpanther:PTHR24256	.	.	ENSP00000005995	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000005995	Transcript	.	.	ENSG00000007038	9485	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TEST_HUMAN	PRSS21	HGNC	.	.	UPI000004813E	SNV	PRSS21,stop_gained,p.Cys33Ter,ENST00000005995,;PRSS21,stop_gained,p.Cys26Ter,ENST00000574813,;PRSS21,stop_gained,p.Cys33Ter,ENST00000450020,;PRSS21,stop_gained,p.Cys33Ter,ENST00000455114,;PRSS21,upstream_gene_variant,,ENST00000574265,;PRSS21,upstream_gene_variant,,ENST00000575739,;PRSS21,synonymous_variant,p.%3D,ENST00000570629,;PRSS21,synonymous_variant,p.%3D,ENST00000570594,;PRSS21,non_coding_transcript_exon_variant,,ENST00000571141,;PRSS21,non_coding_transcript_exon_variant,,ENST00000575199,;PRSS21,non_coding_transcript_exon_variant,,ENST00000577043,;LA16c-352F10.1,downstream_gene_variant,,ENST00000572664,;	141	83	53	SUCCESS
ORAI3	93129	.	GRCh37	16	30964577	30964577	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	57	0	ENST00000318663.4:c.300C>T	p.Ala100=	p.A100=	ENST00000318663	NM_152288.2	100	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10697.1	300	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCTGCAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31501:SF6,hmmpanther:PTHR31501,Pfam_domain:PF07856	.	.	ENSP00000322249	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318663	Transcript	.	.	ENSG00000175938	28185	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ORAI3_HUMAN	ORAI3	HGNC	.	.	UPI00000735E7	SNV	ORAI3,synonymous_variant,p.%3D,ENST00000318663,;ORAI3,synonymous_variant,p.%3D,ENST00000566237,;ORAI3,intron_variant,,ENST00000562699,;FBXL19,downstream_gene_variant,,ENST00000427128,;FBXL19,downstream_gene_variant,,ENST00000471231,;FBXL19,downstream_gene_variant,,ENST00000380310,;SETD1A,upstream_gene_variant,,ENST00000262519,;SETD1A,upstream_gene_variant,,ENST00000452917,;FBXL19,downstream_gene_variant,,ENST00000338343,;AC135048.13,non_coding_transcript_exon_variant,,ENST00000566056,;AC135048.13,non_coding_transcript_exon_variant,,ENST00000562642,;ORAI3,3_prime_UTR_variant,,ENST00000563161,;	524	57	41	SUCCESS
CDH8	1006	.	GRCh37	16	61760777	61760777	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	8	0	ENST00000577390.1:c.1536+221T>A		p.*512*	ENST00000577390	NM_001796.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10802.1	.	MUTECT|MUSE	.	GGCACAGCAGG	NONE	.	.	.	.	.	ENSP00000462701	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,3_prime_UTR_variant,,ENST00000584337,;CDH8,intron_variant,,ENST00000577390,;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,intron_variant,,ENST00000585315,;	.	8	9	SUCCESS
RBFOX1	54715	.	GRCh37	16	7726804	7726804	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1338713162	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	58	0	ENST00000547338.1:c.959A>T	p.Gln320Leu	p.Q320L	ENST00000547338	NM_001142334.1	320	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10531.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCAGCCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8,Pfam_domain:PF12414,PIRSF_domain:PIRSF037932	.	.	ENSP00000309117	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.547)	.	deleterious(0.01)	.	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,missense_variant,p.Gln293Leu,ENST00000553186,;RBFOX1,missense_variant,p.Gln277Leu,ENST00000535565,;RBFOX1,missense_variant,p.Gln337Leu,ENST00000552089,;RBFOX1,missense_variant,p.Gln341Leu,ENST00000355637,;RBFOX1,missense_variant,p.Gln325Leu,ENST00000340209,;RBFOX1,missense_variant,p.Ser38Cys,ENST00000567470,;RBFOX1,missense_variant,p.Gln320Leu,ENST00000547338,;RBFOX1,missense_variant,p.Gln341Leu,ENST00000311745,;RBFOX1,missense_variant,p.Gln341Leu,ENST00000436368,;RBFOX1,missense_variant,p.Gln363Leu,ENST00000422070,;RBFOX1,missense_variant,p.Gln320Leu,ENST00000550418,;RBFOX1,missense_variant,p.Gln363Leu,ENST00000547372,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	1274	58	35	SUCCESS
NF1	4763	.	GRCh37	17	29586118	29586118	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	121	0	ENST00000358273.4:c.4401T>A	p.Phe1467Leu	p.F1467L	ENST00000358273	NM_001042492.2	1467	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS42292.1	4401	MUTECT|MUSE	.	GATTTTGTGAA	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00323,Gene3D:1.10.494.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	33/58	.	.	.	.	.	.	.	.	.	33/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.081)	.	deleterious(0.04)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Phe1467Leu,ENST00000358273,;NF1,missense_variant,p.Phe1112Leu,ENST00000456735,;NF1,missense_variant,p.Phe1446Leu,ENST00000356175,;NF1,missense_variant,p.Phe1480Leu,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000466819,;NF1,3_prime_UTR_variant,,ENST00000479614,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000495910,;	4784	121	104	SUCCESS
ARHGAP23	57636	.	GRCh37	17	36666304	36666304	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	32	0	ENST00000431231.2:c.3572A>G	p.Asp1191Gly	p.D1191G	ENST00000431231	NM_001199417.1	1191	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS56027.1	3572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACGACGACT	NONE	.	.	hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5	.	.	ENSP00000393539	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000431231	Transcript	.	.	ENSG00000225485	29293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	RHG23_HUMAN	ARHGAP23	HGNC	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN	.	UPI0000F3BE51	SNV	ARHGAP23,missense_variant,p.Asp1191Gly,ENST00000431231,;ARHGAP23,missense_variant,p.Asp1097Gly,ENST00000443378,;ARHGAP23,3_prime_UTR_variant,,ENST00000437668,;ARHGAP23,downstream_gene_variant,,ENST00000548703,;ARHGAP23,non_coding_transcript_exon_variant,,ENST00000583703,;	3640	32	23	SUCCESS
G6PC	0	.	GRCh37	17	41063257	41063257	+	synonymous_variant	Silent	SNP	C	C	G	rs1266860369	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	130	0	ENST00000253801.2:c.888C>G	p.Leu296=	p.L296=	ENST00000253801	NM_000151.3	296	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11446.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCAGCTC	NONE	.	.	Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591:SF3,hmmpanther:PTHR12591	.	.	ENSP00000253801	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000253801	Transcript	.	.	ENSG00000131482	4056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G6PC_HUMAN	G6PC	HGNC	.	.	UPI000013CDF5	SNV	G6PC,synonymous_variant,p.%3D,ENST00000253801,;G6PC,3_prime_UTR_variant,,ENST00000585489,;G6PC,3_prime_UTR_variant,,ENST00000592383,;	967	130	100	SUCCESS
MRC2	9902	.	GRCh37	17	60742244	60742244	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	79	0	ENST00000303375.5:c.454C>T	p.Gln152Ter	p.Q152*	ENST00000303375	NM_006039.4	152	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11634.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACCAGACC	NONE	.	.	hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000307513	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,stop_gained,p.Gln152Ter,ENST00000303375,;Y_RNA,upstream_gene_variant,,ENST00000384652,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	856	79	56	SUCCESS
YBX2	51087	.	GRCh37	17	7193784	7193784	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1208409184	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	89	0	ENST00000007699.5:c.530G>A	p.Arg177Gln	p.R177Q	ENST00000007699	NM_015982.3	177	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11098.1	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGTCGGTTG	NONE	.	.	hmmpanther:PTHR11544:SF41,hmmpanther:PTHR11544	.	.	ENSP00000007699	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000007699	Transcript	.	.	ENSG00000006047	17948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	deleterious(0.01)	.	YBOX2_HUMAN	YBX2	HGNC	.	.	UPI000006E761	SNV	YBX2,missense_variant,p.Arg177Gln,ENST00000007699,;YBX2,upstream_gene_variant,,ENST00000571464,;SLC2A4,downstream_gene_variant,,ENST00000317370,;SLC2A4,downstream_gene_variant,,ENST00000424875,;SLC2A4,downstream_gene_variant,,ENST00000571308,;YBX2,non_coding_transcript_exon_variant,,ENST00000570627,;YBX2,non_coding_transcript_exon_variant,,ENST00000571485,;YBX2,non_coding_transcript_exon_variant,,ENST00000570720,;YBX2,non_coding_transcript_exon_variant,,ENST00000571834,;YBX2,downstream_gene_variant,,ENST00000571127,;SLC2A4,downstream_gene_variant,,ENST00000570783,;SLC2A4,downstream_gene_variant,,ENST00000572485,;	594	89	68	SUCCESS
ZBTB4	57659	.	GRCh37	17	7366504	7366504	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	20	0	ENST00000311403.4:c.1797T>G	p.Pro599=	p.P599=	ENST00000311403	NM_020899.3	599	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS11107.1	1797	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGGAGGTGG	NONE	.	.	hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF0	.	.	ENSP00000307858	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000311403	Transcript	.	.	ENSG00000174282	23847	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZBTB4_HUMAN	ZBTB4	HGNC	B3KVD4_HUMAN	.	UPI00001A9C9A	SNV	ZBTB4,synonymous_variant,p.%3D,ENST00000311403,;ZBTB4,synonymous_variant,p.%3D,ENST00000380599,;	2137	20	25	SUCCESS
OSBPL1A	114876	.	GRCh37	18	21948322	21948322	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	255	140	439	0	ENST00000319481.3:c.136A>G	p.Asn46Asp	p.N46D	ENST00000319481	NM_080597.3	46	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11884.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTTAGACT	NONE	.	.	Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000320291	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000319481	Transcript	.	.	ENSG00000141447	16398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	deleterious(0.02)	.	OSBL1_HUMAN	OSBPL1A	HGNC	Q96IZ3_HUMAN,Q6GSK5_HUMAN,B0YJ56_HUMAN	.	UPI0000130E95	SNV	OSBPL1A,missense_variant,p.Asn46Asp,ENST00000319481,;OSBPL1A,missense_variant,p.Asn46Asp,ENST00000399441,;RP11-621L6.2,downstream_gene_variant,,ENST00000579347,;OSBPL1A,non_coding_transcript_exon_variant,,ENST00000582350,;OSBPL1A,non_coding_transcript_exon_variant,,ENST00000582618,;OSBPL1A,intron_variant,,ENST00000579764,;OSBPL1A,non_coding_transcript_exon_variant,,ENST00000581343,;OSBPL1A,intron_variant,,ENST00000582645,;OSBPL1A,intron_variant,,ENST00000579851,;OSBPL1A,intron_variant,,ENST00000578091,;	343	439	396	SUCCESS
CNN1	1264	.	GRCh37	19	11660435	11660435	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758562938	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	126	0	ENST00000252456.2:c.719C>T	p.Thr240Met	p.T240M	ENST00000252456	NM_001299.4	240	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12263.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACACGCTCA	NONE	byFrequency	.	hmmpanther:PTHR18959	.	.	ENSP00000252456	.	7/7	.	.	.	.	.	.	.	.	rs758562938	7/7	PASS	ENST00000252456	Transcript	.	.	ENSG00000130176	2155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.09)	.	CNN1_HUMAN	CNN1	HGNC	K7ENC5_HUMAN,B7Z7E1_HUMAN	.	UPI0000127AE3	SNV	CNN1,missense_variant,p.Thr58Met,ENST00000587087,;CNN1,missense_variant,p.Thr240Met,ENST00000252456,;CNN1,missense_variant,p.Thr220Met,ENST00000544952,;CNN1,missense_variant,p.Thr190Met,ENST00000592923,;CNN1,missense_variant,p.Thr130Met,ENST00000592338,;CNN1,missense_variant,p.Thr96Met,ENST00000588935,;CNN1,missense_variant,p.Thr190Met,ENST00000535659,;CNN1,3_prime_UTR_variant,,ENST00000586577,;ELOF1,downstream_gene_variant,,ENST00000586120,;ELOF1,downstream_gene_variant,,ENST00000586683,;ELOF1,downstream_gene_variant,,ENST00000252445,;ELOF1,downstream_gene_variant,,ENST00000591674,;ELOF1,downstream_gene_variant,,ENST00000589171,;ELOF1,downstream_gene_variant,,ENST00000591912,;CNN1,downstream_gene_variant,,ENST00000586059,;ELOF1,downstream_gene_variant,,ENST00000587806,;ELOF1,downstream_gene_variant,,ENST00000590700,;	930	126	97	SUCCESS
C19orf26	0	.	GRCh37	19	1231033	1231033	+	intron_variant	Intron	SNP	A	A	G	rs1568731101	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	93	0	ENST00000382477.2:c.1214+67T>C		p.*405*	ENST00000382477		407		0	-:0.0017	.	.	.	.	G	P	protein_coding	YES	CCDS12057.2	1221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTAGGGGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg	.	-:0.0019	ENSP00000465260	.	9/9	.	.	.	.	.	.	.	.	rs771515759	9/9	PASS	ENST00000590083	Transcript	.	.	ENSG00000099625	28617	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C19orf26	HGNC	K7EJP2_HUMAN	.	UPI000059D617	SNV	C19orf26,synonymous_variant,p.%3D,ENST00000215376,;C19orf26,synonymous_variant,p.%3D,ENST00000590083,;C19orf26,intron_variant,,ENST00000382477,;STK11,downstream_gene_variant,,ENST00000326873,;STK11,downstream_gene_variant,,ENST00000586243,;C19orf26,intron_variant,,ENST00000591127,;STK11,downstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000589152,;C19orf26,downstream_gene_variant,,ENST00000589260,;	1514	94	54	SUCCESS
RAD23A	5886	.	GRCh37	19	13056740	13056740	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	75	133	0	ENST00000586534.1:c.-23C>T		p.*8*	ENST00000586534				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12289.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCGCCGC	NONE	.	.	.	.	.	ENSP00000467024	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000586534	Transcript	.	.	ENSG00000179262	9812	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RD23A_HUMAN	RAD23A	HGNC	K7ENJ0_HUMAN,B4DDJ7_HUMAN	.	UPI000000D7F7	SNV	RAD23A,5_prime_UTR_variant,,ENST00000541222,;RAD23A,5_prime_UTR_variant,,ENST00000316856,;RAD23A,5_prime_UTR_variant,,ENST00000592268,;RAD23A,5_prime_UTR_variant,,ENST00000586534,;CALR,downstream_gene_variant,,ENST00000316448,;RAD23A,upstream_gene_variant,,ENST00000590881,;CALR,downstream_gene_variant,,ENST00000586760,;CTC-425F1.4,upstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;RAD23A,5_prime_UTR_variant,,ENST00000593114,;RAD23A,5_prime_UTR_variant,,ENST00000591499,;RAD23A,non_coding_transcript_exon_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000586967,;RAD23A,upstream_gene_variant,,ENST00000586375,;	39	133	131	SUCCESS
RYR1	6261	.	GRCh37	19	39055621	39055621	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	390	253	908	0	ENST00000359596.3:c.12647T>A	p.Phe4216Tyr	p.F4216Y	ENST00000359596		4216	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS33011.1	12647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTCATCT	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	91/106	.	.	.	.	.	.	.	.	.	91/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Phe4211Tyr,ENST00000355481,;RYR1,missense_variant,p.Phe4211Tyr,ENST00000360985,;RYR1,missense_variant,p.Phe4216Tyr,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000593677,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	12647	908	643	SUCCESS
PSG8	440533	.	GRCh37	19	43268178	43268178	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	107	0	ENST00000306511.4:c.320T>C	p.Leu107Pro	p.L107P	ENST00000306511	NM_182707.2	107	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS33037.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCAGGGAT	NONE	.	.	hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000305005	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000306511	Transcript	.	.	ENSG00000124467	9525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PSG8_HUMAN	PSG8	HGNC	.	.	UPI0000071471	SNV	PSG8,missense_variant,p.Leu107Pro,ENST00000404209,;PSG8,missense_variant,p.Leu107Pro,ENST00000306511,;PSG8,missense_variant,p.Leu107Pro,ENST00000401467,;PSG8,intron_variant,,ENST00000406636,;PSG8,intron_variant,,ENST00000469260,;PSG8,non_coding_transcript_exon_variant,,ENST00000593692,;PSG8,intron_variant,,ENST00000478387,;	418	107	64	SUCCESS
ZNF45	7596	.	GRCh37	19	44419099	44419099	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	67	0	ENST00000269973.5:c.489C>T	p.Pro163=	p.P163=	ENST00000269973	NM_003425.3	163	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12632.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGGGTTT	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24377:SF174,hmmpanther:PTHR24377	.	.	ENSP00000269973	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000269973	Transcript	.	.	ENSG00000124459	13111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF45_HUMAN	ZNF45	HGNC	K7EPV5_HUMAN	.	UPI0000001C64	SNV	ZNF45,synonymous_variant,p.%3D,ENST00000589703,;ZNF45,synonymous_variant,p.%3D,ENST00000588140,;ZNF45,synonymous_variant,p.%3D,ENST00000269973,;RP11-15A1.2,intron_variant,,ENST00000586247,;	1580	67	72	SUCCESS
EHD2	30846	.	GRCh37	19	48221838	48221838	+	synonymous_variant	Silent	SNP	G	G	A	rs369297316	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	51	0	ENST00000263277.3:c.477G>A	p.Ser159=	p.S159=	ENST00000263277	NM_014601.3	159	tcG/tcA	0	C:0	.	.	.	.	A	S	protein_coding	YES	CCDS12704.1	477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGGGTGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216,Gene3D:3.40.50.300,Pfam_domain:PF00350,Superfamily_domains:SSF52540	.	C:0.0001	ENSP00000263277	.	3/6	.	.	.	.	.	.	.	.	rs369297316	3/6	PASS	ENST00000263277	Transcript	.	.	ENSG00000024422	3243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHD2_HUMAN	EHD2	HGNC	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN	.	UPI0000071B66	SNV	EHD2,synonymous_variant,p.%3D,ENST00000538399,;EHD2,synonymous_variant,p.%3D,ENST00000263277,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	728	51	49	SUCCESS
POLD1	5424	.	GRCh37	19	50902183	50902183	+	synonymous_variant	Silent	SNP	T	T	C	rs1015663503	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	108	0	ENST00000440232.2:c.75T>C	p.Asp25=	p.D25=	ENST00000440232	NM_002691.3	25	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS12795.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATGATGA	NONE	.	.	hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF11	.	.	ENSP00000406046	.	2/27	.	.	.	.	.	.	.	.	rs772855121	2/27	PASS	ENST00000440232	Transcript	1	.	ENSG00000062822	9175	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOD1_HUMAN	POLD1	HGNC	M0R2J2_HUMAN	.	UPI000007288E	SNV	POLD1,synonymous_variant,p.%3D,ENST00000595904,;POLD1,synonymous_variant,p.%3D,ENST00000593887,;POLD1,synonymous_variant,p.%3D,ENST00000440232,;POLD1,synonymous_variant,p.%3D,ENST00000601098,;POLD1,synonymous_variant,p.%3D,ENST00000599857,;RN7SL324P,downstream_gene_variant,,ENST00000577945,;POLD1,synonymous_variant,p.%3D,ENST00000600859,;POLD1,non_coding_transcript_exon_variant,,ENST00000600746,;	128	108	74	SUCCESS
EPS8L1	54869	.	GRCh37	19	55592156	55592156	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs764798907	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	65	181	0	ENST00000201647.6:c.446A>T	p.Glu149Val	p.E149V	ENST00000201647	NM_133180.2	149	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12914.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGAGGACA	NONE	.	.	hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19,Pfam_domain:PF08416,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000201647	.	7/20	.	.	.	.	.	.	.	.	rs764798907	7/20	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,missense_variant,p.Glu131Val,ENST00000586329,;EPS8L1,missense_variant,p.Glu22Val,ENST00000245618,;EPS8L1,missense_variant,p.Glu149Val,ENST00000201647,;EPS8L1,missense_variant,p.Glu85Val,ENST00000540810,;EPS8L1,intron_variant,,ENST00000588359,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,missense_variant,p.Glu111Val,ENST00000587786,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592044,;EPS8L1,upstream_gene_variant,,ENST00000592102,;EPS8L1,upstream_gene_variant,,ENST00000590610,;EPS8L1,upstream_gene_variant,,ENST00000590232,;EPS8L1,upstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592318,;EPS8L1,upstream_gene_variant,,ENST00000592284,;EPS8L1,downstream_gene_variant,,ENST00000591219,;EPS8L1,upstream_gene_variant,,ENST00000589362,;	502	181	149	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	88	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	88	61	SUCCESS
RP11-14N7.2	0	.	GRCh37	1	148932856	148932856	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	53	197	0	ENST00000539543.1:n.112C>A		p.*38*	ENST00000539543				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACCAAGA	NONE	.	.	.	.	.	.	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000539543	Transcript	.	.	ENSG00000232527	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-14N7.2	Clone_based_vega_gene	.	.	.	SNV	RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000294715,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000452399,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000539543,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000420597,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000457390,;	112	197	259	SUCCESS
RP11-14N7.2	0	.	GRCh37	1	148932857	148932857	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	54	206	0	ENST00000539543.1:n.113C>A		p.*38*	ENST00000539543				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCAAGAG	NONE	.	.	.	.	.	.	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000539543	Transcript	.	.	ENSG00000232527	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-14N7.2	Clone_based_vega_gene	.	.	.	SNV	RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000294715,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000452399,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000539543,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000420597,;RP11-14N7.2,non_coding_transcript_exon_variant,,ENST00000457390,;	113	206	259	SUCCESS
INTS3	65123	.	GRCh37	1	153743174	153743174	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	49	0	ENST00000318967.2:c.2517C>T	p.Ala839=	p.A839=	ENST00000318967	NM_023015.3	839	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1052.1	2517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCCTGTC	NONE	.	.	hmmpanther:PTHR13587	.	.	ENSP00000318641	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000318967	Transcript	.	.	ENSG00000143624	26153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT3_HUMAN	INTS3	HGNC	.	.	UPI0000231CA8	SNV	INTS3,synonymous_variant,p.%3D,ENST00000435409,;INTS3,synonymous_variant,p.%3D,ENST00000318967,;INTS3,synonymous_variant,p.%3D,ENST00000456435,;INTS3,synonymous_variant,p.%3D,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000271857,;SLC27A3,upstream_gene_variant,,ENST00000368661,;INTS3,non_coding_transcript_exon_variant,,ENST00000476843,;SLC27A3,upstream_gene_variant,,ENST00000484014,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000368670,;INTS3,non_coding_transcript_exon_variant,,ENST00000368669,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;SLC27A3,upstream_gene_variant,,ENST00000468403,;	3085	49	65	SUCCESS
LRRC71	149499	.	GRCh37	1	156899104	156899104	+	synonymous_variant	Silent	SNP	G	G	C	rs754355387	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	18	112	0	ENST00000337428.7:c.1029G>C	p.Thr343=	p.T343=	ENST00000337428	NM_144702.2	343	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS44249.1	1029	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACGGACCG	NONE	byFrequency	.	hmmpanther:PTHR24106	.	.	ENSP00000336661	.	10/15	.	.	.	.	.	.	.	.	rs754355387	10/15	PASS	ENST00000337428	Transcript	.	.	ENSG00000160838	26556	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRC71_HUMAN	LRRC71	HGNC	.	.	UPI00000719B9	SNV	LRRC71,synonymous_variant,p.%3D,ENST00000337428,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;LRRC71,upstream_gene_variant,,ENST00000472465,;	1183	112	148	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17981137	17981137	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	22	33	0	ENST00000361221.3:c.2401G>T	p.Ala801Ser	p.A801S	ENST00000361221	NM_018125.3	801	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS182.1	2401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGCCCTG	NONE	.	.	hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16	.	.	ENSP00000355060	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.07)	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,missense_variant,p.Ala801Ser,ENST00000361221,;ARHGEF10L,missense_variant,p.Ala574Ser,ENST00000375408,;ARHGEF10L,missense_variant,p.Ala504Ser,ENST00000167825,;ARHGEF10L,missense_variant,p.Ala762Ser,ENST00000375415,;ARHGEF10L,missense_variant,p.Ala796Ser,ENST00000434513,;ARHGEF10L,missense_variant,p.Ala762Ser,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000466782,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	2560	33	30	SUCCESS
CNTN2	6900	.	GRCh37	1	205042847	205042847	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	30	0	ENST00000331830.4:c.3077C>T	p.Ser1026Phe	p.S1026F	ENST00000331830	NM_005076.3	1026	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS1449.1	3077	MUTECT|MUSE	.	CATTTCCCACT	NONE	.	.	.	.	.	ENSP00000330633	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.068)	.	deleterious_low_confidence(0.01)	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,missense_variant,p.Ser1026Phe,ENST00000331830,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,downstream_gene_variant,,ENST00000525433,;	3361	30	34	SUCCESS
TMEM81	388730	.	GRCh37	1	205052921	205052921	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs775848127	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	90	145	0	ENST00000367167.3:c.528del	p.Phe176LeufsTer3	p.F176Lfs*3	ENST00000367167	NM_203376.1	176	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS1450.1	528	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACCCAAAATA	NONE	.	.	.	.	.	ENSP00000356135	.	1/1	.	.	.	.	.	.	.	.	rs775848127	1/1	PASS	ENST00000367167	Transcript	.	.	ENSG00000174529	32349	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMM81_HUMAN	TMEM81	HGNC	.	.	UPI0000199A1E	deletion	TMEM81,frameshift_variant,p.Phe176LeufsTer3,ENST00000367167,;RBBP5,downstream_gene_variant,,ENST00000264515,;RBBP5,downstream_gene_variant,,ENST00000367164,;	725	145	334	SUCCESS
CTSE	1510	.	GRCh37	1	206319173	206319173	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	53	0	ENST00000358184.2:c.298T>C	p.Ser100Pro	p.S100P	ENST00000358184	NM_001910.3	100	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS1462.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTCCAAC	NONE	.	.	hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF81,PROSITE_patterns:PS00141,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630,Prints_domain:PR00792	.	.	ENSP00000350911	.	3/9	.	.	.	.	.	.	.	.	COSM3930603,COSM3930604	3/9	PASS	ENST00000358184	Transcript	.	.	ENSG00000196188	2530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.51)	.	deleterious(0.02)	1,1	CATE_HUMAN	CTSE	HGNC	.	.	UPI000000D9E4	SNV	CTSE,missense_variant,p.Ser100Pro,ENST00000361052,;CTSE,missense_variant,p.Ser100Pro,ENST00000360218,;CTSE,missense_variant,p.Ser25Pro,ENST00000432969,;CTSE,missense_variant,p.Ser100Pro,ENST00000358184,;CTSE,upstream_gene_variant,,ENST00000468617,;	416	53	100	SUCCESS
DIEXF	0	.	GRCh37	1	210010380	210010380	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	95	122	0	ENST00000491415.2:c.886G>A	p.Glu296Lys	p.E296K	ENST00000491415	NM_014388.6	296	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1493.1	886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGGAAAGG	NONE	.	.	hmmpanther:PTHR12933,Gene3D:3.40.50.300	.	.	ENSP00000419005	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000491415	Transcript	.	.	ENSG00000117597	28440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	deleterious(0.01)	.	DIEXF_HUMAN	DIEXF	HGNC	B3KVX2_HUMAN	.	UPI000006D987	SNV	DIEXF,missense_variant,p.Glu296Lys,ENST00000491415,;DIEXF,upstream_gene_variant,,ENST00000457820,;	943	122	200	SUCCESS
HSPG2	3339	.	GRCh37	1	22158249	22158249	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	160	287	0	ENST00000374695.3:c.11248A>G	p.Thr3750Ala	p.T3750A	ENST00000374695	NM_005529.5	3750	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS30625.1	11248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTGGGAT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000363827	.	82/97	.	.	.	.	.	.	.	.	.	82/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Thr3750Ala,ENST00000374695,;HSPG2,downstream_gene_variant,,ENST00000426143,;HSPG2,downstream_gene_variant,,ENST00000374676,;HSPG2,downstream_gene_variant,,ENST00000471322,;HSPG2,upstream_gene_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000469378,;	11328	288	210	SUCCESS
WDR26	80232	.	GRCh37	1	224581703	224581703	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	78	139	0	ENST00000414423.2:c.1787A>C	p.Tyr596Ser	p.Y596S	ENST00000414423	NM_001115113.2	596	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS31037.2	1787	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTAAACC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22838:SF0,hmmpanther:PTHR22838,PROSITE_profiles:PS50294	.	.	ENSP00000408108	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000414423	Transcript	.	.	ENSG00000162923	21208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	WDR26_HUMAN	WDR26	HGNC	C9JCS7_HUMAN	.	UPI0000203FB7	SNV	WDR26,missense_variant,p.Tyr596Ser,ENST00000414423,;WDR26,missense_variant,p.Tyr230Ser,ENST00000480676,;WDR26,missense_variant,p.Tyr449Ser,ENST00000295024,;WDR26,3_prime_UTR_variant,,ENST00000366852,;MIR4742,downstream_gene_variant,,ENST00000581069,;WDR26,downstream_gene_variant,,ENST00000479727,;WDR26,3_prime_UTR_variant,,ENST00000486652,;	1981	140	191	SUCCESS
PCSK9	255738	.	GRCh37	1	55527047	55527047	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	90	268	0	ENST00000302118.5:c.1682-1G>T		p.X561_splice	ENST00000302118	NM_174936.3	561		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS603.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGCTGC	NONE	.	.	.	.	.	ENSP00000303208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000302118	Transcript	.	.	ENSG00000169174	20001	.	.	HIGH	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCSK9_HUMAN	PCSK9	HGNC	.	.	UPI00001615E1	SNV	PCSK9,splice_acceptor_variant,,ENST00000543384,;PCSK9,splice_acceptor_variant,,ENST00000302118,;USP24,downstream_gene_variant,,ENST00000407756,;USP24,downstream_gene_variant,,ENST00000294383,;PCSK9,splice_acceptor_variant,,ENST00000490692,;	.	268	182	SUCCESS
TNNI3K	51086	.	GRCh37	1	74833646	74833646	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs759083495	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	86	330	0	ENST00000326637.3:c.1319A>T	p.Lys440Ile	p.K440I	ENST00000326637	NM_015978.2	440	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS44161.2	1661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAAAGGTA	NONE	.	.	hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257	.	.	ENSP00000450895	.	15/27	.	.	.	.	.	.	.	.	rs759083495	15/27	PASS	ENST00000557284	Transcript	.	.	ENSG00000259030	42952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	.	FPGT-TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI0001EECC26	SNV	FPGT-TNNI3K,missense_variant,p.Lys541Ile,ENST00000370895,;TNNI3K,missense_variant,p.Lys440Ile,ENST00000326637,;FPGT-TNNI3K,missense_variant,p.Lys541Ile,ENST00000370899,;FPGT-TNNI3K,missense_variant,p.Lys162Ile,ENST00000534632,;TNNI3K,missense_variant,p.Lys541Ile,ENST00000370891,;FPGT-TNNI3K,missense_variant,p.Lys554Ile,ENST00000557284,;TNNI3K,upstream_gene_variant,,ENST00000534020,;TNNI3K,upstream_gene_variant,,ENST00000526236,;TNNI3K,upstream_gene_variant,,ENST00000525480,;RP11-439H8.4,intron_variant,,ENST00000415549,;TNNI3K,upstream_gene_variant,,ENST00000497284,;	1666	330	266	SUCCESS
WISP2	0	.	GRCh37	20	43353453	43353453	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	36	147	0	ENST00000372868.2:c.352A>T	p.Ser118Cys	p.S118C	ENST00000372868		118	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13336.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCAGCATC	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF16,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214	.	.	ENSP00000361959	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000372868	Transcript	.	.	ENSG00000064205	12770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0)	.	WISP2_HUMAN	WISP2	HGNC	.	.	UPI0000037219	SNV	WISP2,missense_variant,p.Ser118Cys,ENST00000190983,;WISP2,missense_variant,p.Ser118Cys,ENST00000372868,;WISP2,intron_variant,,ENST00000372865,;RP11-445H22.4,intron_variant,,ENST00000445420,;RP11-445H22.4,intron_variant,,ENST00000427303,;RP11-445H22.4,intron_variant,,ENST00000427598,;WISP2,non_coding_transcript_exon_variant,,ENST00000465000,;WISP2,non_coding_transcript_exon_variant,,ENST00000471629,;WISP2,downstream_gene_variant,,ENST00000497421,;	695	147	144	SUCCESS
SLC35C2	51006	.	GRCh37	20	44987488	44987488	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	17	0	ENST00000243896.2:c.-343G>T		p.*115*	ENST00000243896	NM_173179.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13396.1	.	MUTECT|MUSE	.	TGACTCAGGGC	NONE	.	.	.	.	.	ENSP00000361301	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000372227	Transcript	.	.	ENSG00000080189	17117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S35C2_HUMAN	SLC35C2	HGNC	.	.	UPI00000015E5	SNV	SLC35C2,5_prime_UTR_variant,,ENST00000243896,;SLC35C2,5_prime_UTR_variant,,ENST00000372227,;SLC35C2,intron_variant,,ENST00000543605,;SLC35C2,intron_variant,,ENST00000372229,;SLC35C2,intron_variant,,ENST00000372230,;SLC35C2,intron_variant,,ENST00000317734,;SLC35C2,upstream_gene_variant,,ENST00000424568,;SLC35C2,upstream_gene_variant,,ENST00000420518,;SLC35C2,non_coding_transcript_exon_variant,,ENST00000484188,;SLC35C2,intron_variant,,ENST00000484318,;SLC35C2,intron_variant,,ENST00000481809,;SLC35C2,upstream_gene_variant,,ENST00000487729,;SLC35C2,upstream_gene_variant,,ENST00000480329,;	199	17	20	SUCCESS
BAGE2	85319	.	GRCh37	21	11058299	11058299	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	11	312	0	ENST00000470054.1:n.349G>C		p.*117*	ENST00000470054				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GGCTCCAAAGT	NONE	.	.	.	.	.	.	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,downstream_gene_variant,,ENST00000474011,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	349	312	203	SUCCESS
GRIK1	2897	.	GRCh37	21	31062249	31062249	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	120	0	ENST00000399907.1:c.343T>A	p.Ser115Thr	p.S115T	ENST00000399907	NM_000830.3	115	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS42913.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36	.	.	ENSP00000382791	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000399907	Transcript	.	.	ENSG00000171189	4579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	tolerated(0.47)	.	GRIK1_HUMAN	GRIK1	HGNC	Q9UNN1_HUMAN,Q71UA3_HUMAN	.	UPI000012B612	SNV	GRIK1,missense_variant,p.Ser115Thr,ENST00000327783,;GRIK1,missense_variant,p.Ser115Thr,ENST00000389124,;GRIK1,missense_variant,p.Ser115Thr,ENST00000399914,;GRIK1,missense_variant,p.Ser115Thr,ENST00000535441,;GRIK1,missense_variant,p.Ser115Thr,ENST00000399907,;GRIK1,missense_variant,p.Ser115Thr,ENST00000399913,;GRIK1,missense_variant,p.Ser115Thr,ENST00000399909,;GRIK1,missense_variant,p.Ser115Thr,ENST00000309434,;GRIK1,missense_variant,p.Ser115Thr,ENST00000389125,;GRIK1,non_coding_transcript_exon_variant,,ENST00000472429,;	755	120	83	SUCCESS
DOPEY2	0	.	GRCh37	21	37617730	37617730	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761015908	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	76	0	ENST00000399151.3:c.3452G>A	p.Gly1151Glu	p.G1151E	ENST00000399151	NM_005128.2	1151	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS13643.1	3452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGGGGCA	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.28)	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,missense_variant,p.Gly1151Glu,ENST00000399151,;DOPEY2,upstream_gene_variant,,ENST00000463668,;	3537	76	65	SUCCESS
PRMT2	3275	.	GRCh37	21	48064248	48064248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	100	0	ENST00000355680.3:c.175A>T	p.Ile59Phe	p.I59F	ENST00000355680	NM_206962.2	59	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS13737.1	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTATCCTG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF52,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000380759	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000397637	Transcript	.	.	ENSG00000160310	5186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious(0)	.	ANM2_HUMAN	PRMT2	HGNC	Q5U7D4_HUMAN	.	UPI0000125B21	SNV	PRMT2,missense_variant,p.Ile59Phe,ENST00000397637,;PRMT2,missense_variant,p.Ile59Phe,ENST00000451211,;PRMT2,missense_variant,p.Ile59Phe,ENST00000440086,;PRMT2,missense_variant,p.Ile59Phe,ENST00000334494,;PRMT2,missense_variant,p.Ile59Phe,ENST00000291705,;PRMT2,missense_variant,p.Ile59Phe,ENST00000397628,;PRMT2,missense_variant,p.Ile59Phe,ENST00000397638,;PRMT2,missense_variant,p.Ile59Phe,ENST00000355680,;PRMT2,missense_variant,p.Ile59Phe,ENST00000458387,;PRMT2,upstream_gene_variant,,ENST00000455177,;PRMT2,upstream_gene_variant,,ENST00000498151,;PRMT2,upstream_gene_variant,,ENST00000491389,;PRMT2,non_coding_transcript_exon_variant,,ENST00000481861,;PRMT2,non_coding_transcript_exon_variant,,ENST00000482508,;	1129	100	74	SUCCESS
NCF4	4689	.	GRCh37	22	37271978	37271978	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	165	0	ENST00000248899.6:c.759-93C>T		p.*253*	ENST00000248899	NM_000631.4	304		0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13935.1	911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCCAGGGT	NONE	.	.	.	.	.	ENSP00000380334	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000397147	Transcript	.	.	ENSG00000100365	7662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.713)	.	deleterious_low_confidence(0.02)	.	NCF4_HUMAN	NCF4	HGNC	B0QY04_HUMAN	.	UPI000013CC59	SNV	NCF4,missense_variant,p.Pro304Leu,ENST00000397147,;NCF4,missense_variant,p.Pro168Leu,ENST00000415063,;NCF4,intron_variant,,ENST00000248899,;NCF4,downstream_gene_variant,,ENST00000447071,;	1095	165	105	SUCCESS
MEI1	150365	.	GRCh37	22	42112063	42112063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	39	0	ENST00000401548.3:c.442A>T	p.Met148Leu	p.M148L	ENST00000401548	NM_152513.3	148	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS46718.1	442	MUTECT|MUSE	.	CCTCCATGCGA	NONE	.	.	hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10,Superfamily_domains:SSF48371	.	.	ENSP00000384115	.	5/31	.	.	.	.	.	.	.	.	.	5/31	PASS	ENST00000401548	Transcript	.	.	ENSG00000167077	28613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.743)	.	tolerated(0.1)	.	MEI1_HUMAN	MEI1	HGNC	.	.	UPI00006E232C	SNV	MEI1,missense_variant,p.Met148Leu,ENST00000401548,;MEI1,5_prime_UTR_variant,,ENST00000300398,;MEI1,5_prime_UTR_variant,,ENST00000540833,;MEI1,5_prime_UTR_variant,,ENST00000400107,;	482	39	44	SUCCESS
MRPS9	64965	.	GRCh37	2	105696496	105696496	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	53	0	ENST00000258455.3:c.465A>T	p.Lys155Asn	p.K155N	ENST00000258455	NM_182640.2	155	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2065.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAACAGTC	NONE	.	.	hmmpanther:PTHR21569,hmmpanther:PTHR21569:SF1	.	.	ENSP00000258455	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000258455	Transcript	.	.	ENSG00000135972	14501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	RT09_HUMAN	MRPS9	HGNC	Q86WV4_HUMAN	.	UPI00000467F9	SNV	MRPS9,missense_variant,p.Lys155Asn,ENST00000258455,;	575	54	47	SUCCESS
GCA	25801	.	GRCh37	2	163200709	163200709	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	124	0	ENST00000437150.2:c.-50A>T		p.*17*	ENST00000437150	NM_012198.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2218.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCACTGCG	NONE	.	.	.	.	.	ENSP00000394842	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000437150	Transcript	.	.	ENSG00000115271	15990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAN_HUMAN	GCA	HGNC	H7BXD5_HUMAN,C9JIZ3_HUMAN	.	UPI000012BA7D	SNV	GCA,5_prime_UTR_variant,,ENST00000437150,;GCA,5_prime_UTR_variant,,ENST00000453113,;GCA,intron_variant,,ENST00000429691,;GCA,intron_variant,,ENST00000446271,;GCA,upstream_gene_variant,,ENST00000233612,;GCA,intron_variant,,ENST00000473240,;GCA,non_coding_transcript_exon_variant,,ENST00000481161,;GCA,non_coding_transcript_exon_variant,,ENST00000479199,;GCA,non_coding_transcript_exon_variant,,ENST00000487445,;	112	124	99	SUCCESS
ZNF804A	91752	.	GRCh37	2	185802939	185802939	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	141	0	ENST00000302277.6:c.2816G>A	p.Arg939Lys	p.R939K	ENST00000302277	NM_194250.1	939	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS2291.1	2816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGAAGTG	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	COSM1691670	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.899)	.	tolerated(1)	1	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.Arg939Lys,ENST00000302277,;	3410	141	115	SUCCESS
APOB	338	.	GRCh37	2	21234820	21234821	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	57	0	ENST00000233242.1:c.4919dup	p.His1641SerfsTer23	p.H1641Sfs*23	ENST00000233242	NM_000384.2	1640	gct/gcCt	0	.	.	.	.	.	G	A/AX	protein_coding	YES	CCDS1703.1	4919-4920	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTGAGCACC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.His1641SerfsTer23,ENST00000233242,;	5047-5048	57	78	SUCCESS
GPR55	9290	.	GRCh37	2	231775507	231775507	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	56	215	0	ENST00000392039.2:c.171T>A	p.Ala57=	p.A57=	ENST00000392039		57	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2480.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGCATA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF8,hmmpanther:PTHR24232,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000375894	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392040	Transcript	.	.	ENSG00000135898	4511	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR55_HUMAN	GPR55	HGNC	C9J1P7_HUMAN,A8K858_HUMAN	.	UPI000006D64F	SNV	GPR55,synonymous_variant,p.%3D,ENST00000438398,;GPR55,synonymous_variant,p.%3D,ENST00000392039,;GPR55,synonymous_variant,p.%3D,ENST00000392040,;AC012507.4,downstream_gene_variant,,ENST00000454890,;GPR55,synonymous_variant,p.%3D,ENST00000444078,;	364	215	160	SUCCESS
NMUR1	10316	.	GRCh37	2	232393719	232393719	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	36	0	ENST00000305141.4:c.13T>G	p.Cys5Gly	p.C5G	ENST00000305141	NM_006056.4	5	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS2486.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCAGAGAG	NONE	.	.	hmmpanther:PTHR24243:SF109,hmmpanther:PTHR24243	.	.	ENSP00000305877	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000305141	Transcript	.	.	ENSG00000171596	4518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	NMUR1_HUMAN	NMUR1	HGNC	.	.	UPI0000071CAE	SNV	NMUR1,missense_variant,p.Cys5Gly,ENST00000305141,;	147	36	25	SUCCESS
TRPM8	79054	.	GRCh37	2	234863846	234863846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	37	119	0	ENST00000324695.4:c.1314G>T	p.Gln438His	p.Q438H	ENST00000324695	NM_024080.4	438	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS33407.1	1314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGCTGGA	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	.	.	ENSP00000323926	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,missense_variant,p.Gln438His,ENST00000324695,;TRPM8,missense_variant,p.Gln126His,ENST00000433712,;AC005538.5,non_coding_transcript_exon_variant,,ENST00000455991,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,non_coding_transcript_exon_variant,,ENST00000487033,;	1354	119	98	SUCCESS
ALLC	55821	.	GRCh37	2	3729266	3729266	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	101	0	ENST00000252505.3:c.341C>T	p.Ala114Val	p.A114V	ENST00000252505	NM_018436.3	114	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46223.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCTGCAG	NONE	.	.	hmmpanther:PTHR12045,Pfam_domain:PF03561,TIGRFAM_domain:TIGR02961,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	.	ENSP00000252505	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000252505	Transcript	.	.	ENSG00000151360	17377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.38)	.	ALLC_HUMAN	ALLC	HGNC	B4DY77_HUMAN	.	UPI000050BBEF	SNV	ALLC,missense_variant,p.Ala114Val,ENST00000252505,;	503	101	79	SUCCESS
SENP7	57337	.	GRCh37	3	101059023	101059023	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	393	137	404	0	ENST00000394095.2:c.2273G>T	p.Gly758Val	p.G758V	ENST00000394095	NM_020654.3	758	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2941.2	2273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCCCTTA	NONE	.	.	hmmpanther:PTHR12438,hmmpanther:PTHR12438:SF3,Superfamily_domains:SSF54001	.	.	ENSP00000377655	.	16/24	.	.	.	.	.	.	.	.	COSM3584627,COSM3584626	16/24	PASS	ENST00000394095	Transcript	.	.	ENSG00000138468	30402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	SENP7_HUMAN	SENP7	HGNC	.	.	UPI0000E56ED1	SNV	SENP7,missense_variant,p.Gly594Val,ENST00000394091,;SENP7,missense_variant,p.Gly692Val,ENST00000314261,;SENP7,missense_variant,p.Gly758Val,ENST00000394095,;SENP7,missense_variant,p.Gly725Val,ENST00000348610,;SENP7,missense_variant,p.Gly594Val,ENST00000358203,;SENP7,missense_variant,p.Gly693Val,ENST00000394094,;SENP7,non_coding_transcript_exon_variant,,ENST00000460107,;	2327	404	530	SUCCESS
SLC2A2	6514	.	GRCh37	3	170744537	170744537	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	59	0	ENST00000314251.3:c.-78del		p.*26*	ENST00000314251	NM_001278659.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3215.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTTTATTCGC	NONE	.	.	.	.	.	ENSP00000323568	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	deletion	SLC2A2,5_prime_UTR_variant,,ENST00000314251,;SLC2A2,upstream_gene_variant,,ENST00000382808,;SLC2A2,upstream_gene_variant,,ENST00000469787,;SLC2A2,upstream_gene_variant,,ENST00000497642,;	3	59	84	SUCCESS
EOMES	8320	.	GRCh37	3	27763181	27763181	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	59	0	ENST00000295743.4:c.605C>A	p.Pro202Gln	p.P202Q	ENST00000295743	NM_005442.3	202	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS2646.1	605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTGGGCAC	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13	.	.	ENSP00000295743	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000295743	Transcript	.	.	ENSG00000163508	3372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	tolerated(0.08)	.	EOMES_HUMAN	EOMES	HGNC	.	.	UPI000013E29D	SNV	EOMES,missense_variant,p.Pro202Gln,ENST00000449599,;EOMES,missense_variant,p.Pro202Gln,ENST00000295743,;EOMES,intron_variant,,ENST00000537516,;EOMES,intron_variant,,ENST00000461503,;	809	59	73	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913412	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	86	141	0	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2694.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTACCACA	SITE|p.T41A|c.121A>G|828,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T40I|c.119C>T|11,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5664,COSM5688,COSM5716	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	401	141	144	SUCCESS
MRPS18AP1	359761	.	GRCh37	3	48298424	48298424	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	29	0	ENST00000414458.1:n.5C>A		p.*2*	ENST00000414458				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43085.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCCATC	NONE	.	.	.	.	.	ENSP00000346729	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354698	Transcript	.	.	ENSG00000164048	16747	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN589_HUMAN	ZNF589	HGNC	Q59FS2_HUMAN	.	UPI0000190E9A	SNV	ZNF589,intron_variant,,ENST00000354698,;ZNF589,intron_variant,,ENST00000412564,;ZNF589,intron_variant,,ENST00000440261,;ZNF589,intron_variant,,ENST00000427617,;ZNF589,non_coding_transcript_exon_variant,,ENST00000454212,;ZNF589,3_prime_UTR_variant,,ENST00000457782,;ZNF589,intron_variant,,ENST00000448461,;MRPS18AP1,non_coding_transcript_exon_variant,,ENST00000414458,;	.	29	29	SUCCESS
NDUFAF3	25915	.	GRCh37	3	49059329	49059329	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	11	0	ENST00000326925.6:c.-249C>T		p.*83*	ENST00000326925	NM_199069.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2784.1	.	MUTECT|MUSE	.	TGTTCCACTCC	NONE	.	.	.	.	.	ENSP00000323076	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000326925	Transcript	.	.	ENSG00000178057	29918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUF3_HUMAN	NDUFAF3	HGNC	A4FU71_HUMAN	.	UPI000003427D	SNV	NDUFAF3,5_prime_UTR_variant,,ENST00000326925,;NDUFAF3,intron_variant,,ENST00000395458,;NDUFAF3,intron_variant,,ENST00000451378,;NDUFAF3,intron_variant,,ENST00000326912,;IMPDH2,downstream_gene_variant,,ENST00000326739,;DALRD3,upstream_gene_variant,,ENST00000313778,;IMPDH2,downstream_gene_variant,,ENST00000429182,;DALRD3,upstream_gene_variant,,ENST00000441576,;IMPDH2,downstream_gene_variant,,ENST00000442157,;DALRD3,upstream_gene_variant,,ENST00000341949,;DALRD3,upstream_gene_variant,,ENST00000395462,;DALRD3,upstream_gene_variant,,ENST00000440857,;DALRD3,upstream_gene_variant,,ENST00000420952,;MIR191,upstream_gene_variant,,ENST00000384873,;MIR425,upstream_gene_variant,,ENST00000362162,;DALRD3,intron_variant,,ENST00000492585,;DALRD3,intron_variant,,ENST00000496568,;IMPDH2,downstream_gene_variant,,ENST00000463903,;DALRD3,upstream_gene_variant,,ENST00000467457,;IMPDH2,downstream_gene_variant,,ENST00000484872,;IMPDH2,downstream_gene_variant,,ENST00000481274,;DALRD3,upstream_gene_variant,,ENST00000484831,;DALRD3,upstream_gene_variant,,ENST00000498498,;IMPDH2,downstream_gene_variant,,ENST00000491610,;IMPDH2,downstream_gene_variant,,ENST00000466147,;IMPDH2,downstream_gene_variant,,ENST00000472328,;NDUFAF3,upstream_gene_variant,,ENST00000480392,;DALRD3,upstream_gene_variant,,ENST00000460505,;IMPDH2,downstream_gene_variant,,ENST00000462980,;NDUFAF3,upstream_gene_variant,,ENST00000496152,;DALRD3,upstream_gene_variant,,ENST00000498794,;	886	11	13	SUCCESS
SRGAP3	9901	.	GRCh37	3	9094837	9094837	+	synonymous_variant	Silent	SNP	G	G	C	rs369059791	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	7	95	0	ENST00000383836.3:c.1197C>G	p.Ser399=	p.S399=	ENST00000383836	NM_014850.3	399	tcC/tcG	0	A:0.0002	.	.	.	.	C	S	protein_coding	YES	CCDS2572.1	1197	MUTECT|MUSE|VARSCANS	.	GCATCGGAGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166	.	A:0.0001	ENSP00000373347	.	9/22	.	.	.	.	.	.	.	.	rs369059791	9/22	PASS	ENST00000383836	Transcript	.	.	ENSG00000196220	19744	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRGP3_HUMAN	SRGAP3	HGNC	.	.	UPI0000074099	SNV	SRGAP3,synonymous_variant,p.%3D,ENST00000360413,;SRGAP3,synonymous_variant,p.%3D,ENST00000383836,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,upstream_gene_variant,,ENST00000475560,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000485983,;	1625	95	92	SUCCESS
TET2	54790	.	GRCh37	4	106163379	106163379	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	92	1	ENST00000380013.4:c.3501-612A>G		p.*1167*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAATCATC	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000413648,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000513237,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000265149,;	.	93	64	SUCCESS
RAB28	9364	.	GRCh37	4	13475985	13475985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	64	0	ENST00000330852.5:c.218C>A	p.Thr73Lys	p.T73K	ENST00000330852	NM_001017979.2	73	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS33961.1	218	MUTECT|MUSE	.	CTATTGTCTGC	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073	.	.	ENSP00000328551	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000330852	Transcript	1	.	ENSG00000157869	9768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.638)	.	deleterious(0)	.	RAB28_HUMAN	RAB28	HGNC	.	.	UPI00000741FF	SNV	RAB28,missense_variant,p.Thr73Lys,ENST00000288723,;RAB28,missense_variant,p.Thr73Lys,ENST00000330852,;RAB28,missense_variant,p.Thr73Lys,ENST00000338176,;RAB28,upstream_gene_variant,,ENST00000510528,;RAB28,upstream_gene_variant,,ENST00000511649,;RAB28,missense_variant,p.Thr73Lys,ENST00000508274,;	433	64	49	SUCCESS
VEGFC	7424	.	GRCh37	4	177650707	177650707	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	72	0	ENST00000280193.2:c.341A>T	p.Tyr114Phe	p.Y114F	ENST00000280193	NM_005429.3	114	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS43285.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTATAATGT	NONE	.	.	hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3,Gene3D:2.10.90.10	.	.	ENSP00000280193	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000280193	Transcript	1	.	ENSG00000150630	12682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	tolerated(0.18)	.	VEGFC_HUMAN	VEGFC	HGNC	.	.	UPI000020B749	SNV	VEGFC,missense_variant,p.Tyr114Phe,ENST00000280193,;VEGFC,non_coding_transcript_exon_variant,,ENST00000507638,;	757	72	45	SUCCESS
N4BP2	55728	.	GRCh37	4	40122514	40122514	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs780417256	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	67	206	0	ENST00000261435.6:c.2783A>T	p.Glu928Val	p.E928V	ENST00000261435	NM_018177.4	928	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS3457.1	2783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGAGGCCT	NONE	.	.	hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	.	.	ENSP00000261435	.	9/18	.	.	.	.	.	.	.	.	rs780417256	9/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	tolerated(0.16)	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,missense_variant,p.Glu575Val,ENST00000513269,;N4BP2,missense_variant,p.Glu928Val,ENST00000261435,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	3199	206	176	SUCCESS
UGT2B10	7365	.	GRCh37	4	69696429	69696429	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	114	0	ENST00000265403.7:c.1419A>T	p.Lys473Asn	p.K473N	ENST00000265403	NM_001075.4	473	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	.	1419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAACATCT	NONE	.	.	hmmpanther:PTHR11926:SF124,hmmpanther:PTHR11926,Pfam_domain:PF00201	.	.	ENSP00000265403	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000265403	Transcript	.	.	ENSG00000109181	12544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	deleterious(0.01)	.	UDB10_HUMAN	UGT2B10	HGNC	.	.	UPI0000137A96	SNV	UGT2B10,missense_variant,p.Lys473Asn,ENST00000265403,;UGT2B10,missense_variant,p.Lys389Asn,ENST00000458688,;RP11-468N14.3,downstream_gene_variant,,ENST00000512503,;	1446	114	62	SUCCESS
MRPL1	65008	.	GRCh37	4	78830432	78830432	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755463866	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	264	151	515	0	ENST00000315567.8:c.683G>T	p.Arg228Leu	p.R228L	ENST00000315567	NM_020236.3	228	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3583.2	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGTGACA	NONE	.	.	TIGRFAM_domain:TIGR01170,Gene3D:3.40.50.790,Superfamily_domains:SSF56808	.	.	ENSP00000315017	.	7/9	.	.	.	.	.	.	.	.	rs755463866	7/9	PASS	ENST00000315567	Transcript	.	.	ENSG00000169288	14275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.65)	.	RM01_HUMAN	MRPL1	HGNC	.	.	UPI000020B07E	SNV	MRPL1,missense_variant,p.Arg182Leu,ENST00000502384,;MRPL1,missense_variant,p.Arg22Leu,ENST00000504901,;MRPL1,missense_variant,p.Arg228Leu,ENST00000315567,;MRPL1,non_coding_transcript_exon_variant,,ENST00000506674,;	1012	515	416	SUCCESS
FRAS1	80144	.	GRCh37	4	79362366	79362368	+	inframe_deletion	In_Frame_Del	DEL	TGA	TGA	-	rs757129761	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	TGA	TGA	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	62	0	ENST00000264895.6:c.5589_5591del	p.Asp1864del	p.D1864del	ENST00000264895	NM_025074.6	1860	acTGAt/act	0	.	.	.	.	.	-	TD/T	protein_coding	YES	CCDS54771.1	5580-5582	INDELOCATOR|VARSCANI	.	TGCTACTGATGATG	NONE	byFrequency	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	41/74	.	.	.	.	.	.	.	.	rs757129761	41/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	9	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	deletion	FRAS1,inframe_deletion,p.Asp93del,ENST00000512123,;FRAS1,inframe_deletion,p.Asp314del,ENST00000510944,;FRAS1,inframe_deletion,p.Asp1864del,ENST00000325942,;FRAS1,inframe_deletion,p.Asp1864del,ENST00000264895,;	6020-6022	62	65	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130938979	130938979	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	246	104	422	0	ENST00000509018.1:c.182A>G	p.Asn61Ser	p.N61S	ENST00000509018	NM_016340.5	61	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS54900.1	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGATTGCCA	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF171,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000296859	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000296859	Transcript	.	.	ENSG00000158987	20655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.01)	.	RPGF6_HUMAN	RAPGEF6	HGNC	D6RB02_HUMAN	.	UPI000189A836	SNV	RAPGEF6,missense_variant,p.Asn61Ser,ENST00000307984,;RAPGEF6,missense_variant,p.Asn61Ser,ENST00000507093,;RAPGEF6,missense_variant,p.Asn61Ser,ENST00000296859,;CTC-432M15.3,missense_variant,p.Asn111Ser,ENST00000514667,;RAPGEF6,missense_variant,p.Asn61Ser,ENST00000509018,;RAPGEF6,missense_variant,p.Asn61Ser,ENST00000308008,;RAPGEF6,missense_variant,p.Asn61Ser,ENST00000510071,;RAPGEF6,missense_variant,p.Asn61Ser,ENST00000515170,;	263	422	351	SUCCESS
DNAH5	1767	.	GRCh37	5	13692162	13692162	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	146	0	ENST00000265104.4:c.13806T>A	p.Asp4602Glu	p.D4602E	ENST00000265104	NM_001369.2	4602	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3882.1	13806	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGATCCAC	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	79/79	.	.	.	.	.	.	.	.	.	79/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Asp4602Glu,ENST00000265104,;	13911	146	117	SUCCESS
PCDHB1	29930	.	GRCh37	5	140432978	140432978	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	84	0	ENST00000306549.3:c.1923G>A	p.Leu641=	p.L641=	ENST00000306549	NM_013340.2	641	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4243.1	1923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGATCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,synonymous_variant,p.%3D,ENST00000306549,;	2000	84	86	SUCCESS
FAM105B	0	.	GRCh37	5	14687699	14687699	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746061545	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	99	0	ENST00000284274.4:c.538A>G	p.Lys180Glu	p.K180E	ENST00000284274	NM_138348.4	180	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS43302.1	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGAAGAAT	NONE	.	.	Prints_domain:PR02057	.	.	ENSP00000284274	.	5/7	.	.	.	.	.	.	.	.	rs746061545	5/7	PASS	ENST00000284274	Transcript	.	.	ENSG00000154124	25118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.33)	.	OTUL_HUMAN	FAM105B	HGNC	.	.	UPI0000374C00	SNV	FAM105B,missense_variant,p.Lys180Glu,ENST00000284274,;FAM105B,intron_variant,,ENST00000506417,;FAM105B,3_prime_UTR_variant,,ENST00000503023,;FAM105B,3_prime_UTR_variant,,ENST00000514913,;FAM105B,non_coding_transcript_exon_variant,,ENST00000508678,;	616	100	72	SUCCESS
SLIT3	6586	.	GRCh37	5	168727521	168727521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	111	0	ENST00000519560.1:c.193C>A	p.Arg65Ser	p.R65S	ENST00000519560	NM_003062.3	65	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4369.1	193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGCTCAG	NONE	.	.	PROSITE_profiles:PS51450,Gene3D:3.80.10.10,SMART_domains:SM00013,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000430333	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,missense_variant,p.Arg65Ser,ENST00000332966,;SLIT3,missense_variant,p.Arg65Ser,ENST00000519560,;SLIT3,missense_variant,p.Arg65Ser,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521130,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;	613	111	83	SUCCESS
HK3	3101	.	GRCh37	5	176318414	176318414	+	synonymous_variant	Silent	SNP	G	G	A	rs769304037	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	48	0	ENST00000292432.5:c.234C>T	p.Tyr78=	p.Y78=	ENST00000292432	NM_002115.2	78	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS4407.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGTATGT	NONE	.	.	Pfam_domain:PF00349,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	3/19	.	.	.	.	.	.	.	.	rs769304037	3/19	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,synonymous_variant,p.%3D,ENST00000292432,;HK3,synonymous_variant,p.%3D,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000504910,;HK3,upstream_gene_variant,,ENST00000506834,;	326	48	32	SUCCESS
BTN3A1	11119	.	GRCh37	6	26413486	26413486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	50	189	0	ENST00000289361.6:c.1108G>T	p.Asp370Tyr	p.D370Y	ENST00000289361	NM_001145009.1	370	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4608.1	1108	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGATCTG	NONE	.	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF56,PROSITE_profiles:PS50188	.	.	ENSP00000289361	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000289361	Transcript	.	.	ENSG00000026950	1138	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.086)	.	deleterious(0.02)	.	BT3A1_HUMAN	BTN3A1	HGNC	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN	.	UPI000013C904	SNV	BTN3A1,missense_variant,p.Asp318Tyr,ENST00000414912,;BTN3A1,missense_variant,p.Asp370Tyr,ENST00000289361,;BTN3A1,downstream_gene_variant,,ENST00000425234,;BTN3A1,downstream_gene_variant,,ENST00000476549,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;BTN3A1,downstream_gene_variant,,ENST00000502361,;BTN3A1,downstream_gene_variant,,ENST00000513047,;	1476	189	270	SUCCESS
HLA-A	3105	.	GRCh37	6	29910588	29910588	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	57	115	0	ENST00000376809.5:c.128A>T	p.Glu43Val	p.E43V	ENST00000376809	NM_002116.7	43	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34373.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGAGCCCC	NONE	.	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF149,Pfam_domain:PF00129,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000379873	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000396634	Transcript	.	.	ENSG00000206503	4931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	1A03_HUMAN,1A30_HUMAN,1A11_HUMAN	HLA-A	HGNC	S5CRT1_HUMAN,S4TZI2_HUMAN,S4TZE1_HUMAN,R9WYX8_HUMAN,R4I501_HUMAN,R4I3H2_HUMAN,M9PNR0_HUMAN,M9PAA7_HUMAN,M9PAA4_HUMAN,M9P8Z4_HUMAN,M4N6L9_HUMAN,M1SQT4_HUMAN,M1KE04_HUMAN,M1FYE6_HUMAN,M1FYE3_HUMAN,M1FWW6_HUMAN,M1F5P2_HUMAN,Q9UEX6_HUMAN,Q9TQ84_HUMAN,Q9MYA8_HUMAN,Q8HWS5_HUMAN,Q861Q7_HUMAN,Q5XLD1_HUMAN,Q2L4E7_HUMAN,Q29840_HUMAN,Q1M2R8_HUMAN,Q0MSI1_HUMAN,O78086_HUMAN,O78085_HUMAN,O78081_HUMAN,O19689_HUMAN,L7PHV2_HUMAN,L7PHU7_HUMAN,L7PH13_HUMAN,L0BVP5_HUMAN,K9LDJ0_HUMAN,K9LCM8_HUMAN,K9L7Y8_HUMAN,K7WPD7_HUMAN,K7P600_HUMAN,K7P5W6_HUMAN,K7P5U2_HUMAN,K7P5E0_HUMAN,K7P5B6_HUMAN,K7P562_HUMAN,K7P558_HUMAN,J9UP83_HUMAN,J9TNR8_HUMAN,J9PWV5_HUMAN,J9PWL3_HUMAN,J7GM07_HUMAN,J7FNZ2_HUMAN,J7F8L2_HUMAN,I6SJ64_HUMAN,I6QU16_HUMAN,I6NS25_HUMAN,I6NS19_HUMAN,I3UI58_HUMAN,I3UI47_HUMAN,I3QHQ4_HUMAN,I2B2Z9_HUMAN,I1W1L8_HUMAN,H9BQ78_HUMAN,H6UV72_HUMAN,H6UV69_HUMAN,H6UV68_HUMAN,H2BE80_HUMAN,H2BDP5_HUMAN,G9I2J6_HUMAN,G9HW24_HUMAN,G3DR81_HUMAN,G1EPB1_HUMAN,G1EP98_HUMAN,G1EP96_HUMAN,G1EP95_HUMAN,G1EP88_HUMAN,G1EP78_HUMAN,G1EP71_HUMAN,G1EP55_HUMAN,G1EP50_HUMAN,G1EP19_HUMAN,G1EP18_HUMAN,G1EP05_HUMAN,G1ENY5_HUMAN,G1DUW4_HUMAN,G0ZMG9_HUMAN,G0ZMG4_HUMAN,G0ZMG3_HUMAN,G0ZMF4_HUMAN,G0ZDS9_HUMAN,G0WVA6_HUMAN,G0WVA0_HUMAN,F8RHD1_HUMAN,F8RHC2_HUMAN,F8RHB9_HUMAN,F8R8I1_HUMAN,F8R119_HUMAN,F8R110_HUMAN,F6KRP1_HUMAN,F6KRM4_HUMAN,F6IQV7_HUMAN,F4YU26_HUMAN,F4YU20_HUMAN,F2X604_HUMAN,F2X5Y0_HUMAN,F2X5X9_HUMAN,F2VNH3_HUMAN,F2VNH0_HUMAN,F2VNG0_HUMAN,F2VNF7_HUMAN,F2VNF2_HUMAN,F2VNE0_HUMAN,F2VND0_HUMAN,F2VNC4_HUMAN,E9LY14_HUMAN,E9LY02_HUMAN,E9LY00_HUMAN,E8ZF52_HUMAN,E7BY93_HUMAN,E7BY85_HUMAN,E7BBA1_HUMAN,E5DCM4_HUMAN,E5DCM2_HUMAN,E5DCM0_HUMAN,E3SG86_HUMAN,E2DH82_HUMAN,E2D5M3_HUMAN,E2D5L9_HUMAN,E2D5K9_HUMAN,E0YTI8_HUMAN,E0YTI1_HUMAN,E0X9K2_HUMAN,E0WBX4_HUMAN,E0WBX1_HUMAN,D7NSP0_HUMAN,D7NPA3_HUMAN,D7NP98_HUMAN,D7NP92_HUMAN,D7NNU1_HUMAN,D7NNT9_HUMAN,D7NNT6_HUMAN,D7NNT3_HUMAN,D7NNS2_HUMAN,D7NNR5_HUMAN,D7NNM6_HUMAN,D6MLN9_HUMAN,D6MLN3_HUMAN,D6MLM4_HUMAN,D6MLL1_HUMAN,D6MLK2_HUMAN,D6MLJ4_HUMAN,D6MLJ1_HUMAN,D6ML56_HUMAN,D6ML55_HUMAN,D6ML54_HUMAN,D6ML44_HUMAN,D6ML42_HUMAN,D6ML40_HUMAN,D6ML35_HUMAN,D6ML33_HUMAN,D6ML18_HUMAN,D6ML16_HUMAN,D6ML10_HUMAN,D6ML09_HUMAN,D6ML06_HUMAN,D6ML01_HUMAN,D6MKY9_HUMAN,D6MJF7_HUMAN,D5M8G4_HUMAN,D5M8G1_HUMAN,D5M8E4_HUMAN,D5G2J2_HUMAN,D5FIG9_HUMAN,D5FHQ9_HUMAN,D5FHN7_HUMAN,D5FHM5_HUMAN,D5FHM3_HUMAN,D5FHM1_HUMAN,D5FHK5_HUMAN,D5FHG0_HUMAN,D3U484_HUMAN,D3U454_HUMAN,D3U442_HUMAN,D1MYY8_HUMAN,D0RAY3_HUMAN,D0EZK0_HUMAN,D0EZJ9_HUMAN,D0AB29_HUMAN,C9WEL3_HUMAN,C9WEL2_HUMAN,C9WEL1_HUMAN,C9E1E8_HUMAN,C9E1E7_HUMAN,C8XTP8_HUMAN,C8XTP7_HUMAN,C8XTN9_HUMAN,C8XTN7_HUMAN,C8CH66_HUMAN,C6K4J6_HUMAN,C6K4I6_HUMAN,C6K4I1_HUMAN,C6K4H8_HUMAN,C6K4H3_HUMAN,C6K4H0_HUMAN,C6K4G0_HUMAN,C6K4E3_HUMAN,C5J029_HUMAN,C5J027_HUMAN,C5IZR4_HUMAN,C5IZQ3_HUMAN,C4PFZ1_HUMAN,B8YCR7_HUMAN,B8XRE8_HUMAN,B6VA02_HUMAN,B6ECH2_HUMAN,B4DVC4_HUMAN,B1PKY1_HUMAN,A7MAP4_HUMAN,A5PHP7_HUMAN,A0ZXY8_HUMAN	.	UPI000008AB1D	SNV	HLA-A,missense_variant,p.Glu43Val,ENST00000396634,;HLA-A,missense_variant,p.Glu43Val,ENST00000376806,;HLA-A,missense_variant,p.Glu43Val,ENST00000376809,;HLA-A,missense_variant,p.Glu43Val,ENST00000376802,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HCG4P5,non_coding_transcript_exon_variant,,ENST00000429656,;	469	115	163	SUCCESS
CCHCR1	54535	.	GRCh37	6	31122472	31122472	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs576214578	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	67	51	0	ENST00000376266.5:c.335G>T	p.Arg112Leu	p.R112L	ENST00000376266	NM_019052.3	112	cGg/cTg	0	.	T:0.0015	.	T:0	.	A	R/L	protein_coding	YES	CCDS43445.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCGCAGG	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161:SF4,hmmpanther:PTHR23161,Pfam_domain:PF07111	T:0	.	ENSP00000379566	T:0	4/18	.	.	.	.	.	.	.	.	rs576214578,COSM483846,COSM1193642,COSM1193641	4/18	PASS	ENST00000396268	Transcript	.	T:0.0004	ENSG00000204536	13930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.946)	T:0	deleterious(0)	0,1,1,1	CCHCR_HUMAN	CCHCR1	HGNC	E9PGB6_HUMAN,E7EQE8_HUMAN,E7EQC5_HUMAN,D6RDI7_HUMAN,D6RD84_HUMAN,D6RBG1_HUMAN,D6RB88_HUMAN,B4DIA2_HUMAN,B0V092_HUMAN,A9XAL3_HUMAN,A9XAG5_HUMAN,A9XAF5_HUMAN,A9XAC7_HUMAN,A2ABH4_HUMAN,A2ABH3_HUMAN	.	UPI0000E5ACDF	SNV	CCHCR1,missense_variant,p.Arg112Leu,ENST00000507751,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000502557,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000448162,;CCHCR1,missense_variant,p.Arg76Leu,ENST00000508683,;CCHCR1,missense_variant,p.Arg201Leu,ENST00000396268,;CCHCR1,missense_variant,p.Arg86Leu,ENST00000513222,;CCHCR1,missense_variant,p.Arg76Leu,ENST00000448141,;CCHCR1,missense_variant,p.Arg210Leu,ENST00000426967,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000503934,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000455279,;CCHCR1,missense_variant,p.Arg165Leu,ENST00000451521,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000507829,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000396263,;CCHCR1,missense_variant,p.Arg76Leu,ENST00000503420,;CCHCR1,missense_variant,p.Arg112Leu,ENST00000376266,;CCHCR1,downstream_gene_variant,,ENST00000506831,;TCF19,upstream_gene_variant,,ENST00000376255,;CCHCR1,downstream_gene_variant,,ENST00000507892,;CCHCR1,downstream_gene_variant,,ENST00000507226,;CCHCR1,downstream_gene_variant,,ENST00000428174,;TCF19,upstream_gene_variant,,ENST00000376257,;CCHCR1,intron_variant,,ENST00000480060,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000509552,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000464012,;CCHCR1,intron_variant,,ENST00000505392,;CCHCR1,intron_variant,,ENST00000507459,;CCHCR1,intron_variant,,ENST00000508852,;CCHCR1,intron_variant,,ENST00000512418,;CCHCR1,downstream_gene_variant,,ENST00000475684,;CCHCR1,downstream_gene_variant,,ENST00000488920,;	791	51	90	SUCCESS
LHFPL5	222662	.	GRCh37	6	35773575	35773575	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	50	121	0	ENST00000360215.1:c.128T>A	p.Leu43His	p.L43H	ENST00000360215	NM_182548.3	43	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS4812.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTCTTCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12489:SF18,hmmpanther:PTHR12489,Pfam_domain:PF10242	.	.	ENSP00000353346	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000360215	Transcript	.	.	ENSG00000197753	21253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0)	.	TMHS_HUMAN	LHFPL5	HGNC	.	.	UPI000006E12D	SNV	LHFPL5,missense_variant,p.Leu43His,ENST00000360215,;LHFPL5,missense_variant,p.Leu43His,ENST00000373853,;	505	121	135	SUCCESS
DAAM2	23500	.	GRCh37	6	39851783	39851783	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376832339	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	18	55	0	ENST00000274867.4:c.1891G>C	p.Val631Leu	p.V631L	ENST00000274867	NM_001201427.1	631	Gta/Cta	0	A:0.0005	.	.	.	.	C	V/L	protein_coding	YES	CCDS56426.1	1891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGTATTT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF101447,SMART_domains:SM00498,Pfam_domain:PF02181,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,PROSITE_profiles:PS51444	.	A:0	ENSP00000381876	.	15/25	.	.	.	.	.	.	.	.	rs376832339	15/25	PASS	ENST00000398904	Transcript	.	.	ENSG00000146122	18143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.4)	.	DAAM2_HUMAN	DAAM2	HGNC	.	.	UPI000020DC88	SNV	DAAM2,missense_variant,p.Val631Leu,ENST00000538976,;DAAM2,missense_variant,p.Val631Leu,ENST00000274867,;DAAM2,missense_variant,p.Val631Leu,ENST00000398904,;RP11-61I13.3,non_coding_transcript_exon_variant,,ENST00000607675,;RP11-61I13.3,non_coding_transcript_exon_variant,,ENST00000607215,;RP11-61I13.3,downstream_gene_variant,,ENST00000606829,;RP11-61I13.3,downstream_gene_variant,,ENST00000430595,;RP11-61I13.3,downstream_gene_variant,,ENST00000420293,;DAAM2,upstream_gene_variant,,ENST00000496787,;	2073	55	126	SUCCESS
DLK2	65989	.	GRCh37	6	43419007	43419007	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	50	93	0	ENST00000357338.3:c.422C>T	p.Pro141Leu	p.P141L	ENST00000357338	NM_206539.1	141	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4897.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGGGGAG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,hmmpanther:PTHR24838:SF277,hmmpanther:PTHR24838,PROSITE_profiles:PS50026	.	.	ENSP00000349893	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000357338	Transcript	.	.	ENSG00000171462	21113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DLK2_HUMAN	DLK2	HGNC	Q5T3U0_HUMAN	.	UPI0000051E36	SNV	DLK2,missense_variant,p.Pro141Leu,ENST00000372488,;DLK2,missense_variant,p.Pro47Leu,ENST00000430324,;DLK2,missense_variant,p.Pro135Leu,ENST00000414245,;DLK2,missense_variant,p.Pro135Leu,ENST00000372485,;DLK2,missense_variant,p.Pro141Leu,ENST00000357338,;ABCC10,downstream_gene_variant,,ENST00000244533,;ABCC10,downstream_gene_variant,,ENST00000372530,;ABCC10,downstream_gene_variant,,ENST00000505344,;ABCC10,downstream_gene_variant,,ENST00000372512,;ABCC10,downstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000463024,;	1123	93	171	SUCCESS
YIPF3	25844	.	GRCh37	6	43480851	43480851	+	synonymous_variant	Silent	SNP	G	G	A	rs761449765	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	31	77	0	ENST00000372422.2:c.622C>T	p.Leu208=	p.L208=	ENST00000372422	NM_015388.3	208	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4899.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGGTAGG	NONE	byFrequency	.	hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14,Transmembrane_helices:TMhelix	.	.	ENSP00000361499	.	6/9	.	.	.	.	.	.	.	.	rs761449765	6/9	PASS	ENST00000372422	Transcript	.	.	ENSG00000137207	21023	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF3_HUMAN	YIPF3	HGNC	Q5JTD5_HUMAN,D6RGY8_HUMAN	.	UPI0000037775	SNV	YIPF3,synonymous_variant,p.%3D,ENST00000506469,;YIPF3,synonymous_variant,p.%3D,ENST00000372422,;YIPF3,intron_variant,,ENST00000503972,;POLR1C,intron_variant,,ENST00000428025,;POLR1C,upstream_gene_variant,,ENST00000372389,;POLR1C,upstream_gene_variant,,ENST00000372344,;LRRC73,upstream_gene_variant,,ENST00000372441,;POLR1C,upstream_gene_variant,,ENST00000304004,;YIPF3,downstream_gene_variant,,ENST00000500090,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,downstream_gene_variant,,ENST00000511831,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000455768,;YIPF3,3_prime_UTR_variant,,ENST00000416380,;YIPF3,3_prime_UTR_variant,,ENST00000460547,;YIPF3,non_coding_transcript_exon_variant,,ENST00000503147,;YIPF3,non_coding_transcript_exon_variant,,ENST00000512713,;YIPF3,non_coding_transcript_exon_variant,,ENST00000514627,;YIPF3,non_coding_transcript_exon_variant,,ENST00000372417,;YIPF3,downstream_gene_variant,,ENST00000488966,;POLR1C,upstream_gene_variant,,ENST00000455605,;YIPF3,downstream_gene_variant,,ENST00000460903,;YIPF3,downstream_gene_variant,,ENST00000502714,;POLR1C,upstream_gene_variant,,ENST00000488601,;POLR1C,upstream_gene_variant,,ENST00000481352,;POLR1C,upstream_gene_variant,,ENST00000512472,;	805	77	146	SUCCESS
HCRTR2	3062	.	GRCh37	6	55145187	55145187	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764241978	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	39	110	0	ENST00000370862.3:c.1050C>G	p.His350Gln	p.H350Q	ENST00000370862	NM_001526.3	350	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS4956.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACTGGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01064	.	.	ENSP00000359899	.	6/7	.	.	.	.	.	.	.	.	rs764241978	6/7	PASS	ENST00000370862	Transcript	.	.	ENSG00000137252	4849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	OX2R_HUMAN	HCRTR2	HGNC	S4X0W3_HUMAN,A6N9G8_HUMAN	.	UPI000013D07A	SNV	HCRTR2,missense_variant,p.His350Gln,ENST00000370862,;	1386	110	170	SUCCESS
TAS2R38	5726	.	GRCh37	7	141673562	141673562	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	44	102	0	ENST00000547270.1:c.-73T>C		p.*25*	ENST00000547270	NM_176817.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34765.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCAGTGCA	NONE	.	.	.	.	.	ENSP00000448219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000547270	Transcript	.	.	ENSG00000257138	9584	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R38_HUMAN	TAS2R38	HGNC	Q50KM3_HUMAN,Q50KM1_HUMAN	.	UPI000000D825	SNV	TAS2R38,5_prime_UTR_variant,,ENST00000547270,;MGAM,intron_variant,,ENST00000465654,;	12	102	85	SUCCESS
NPSR1	387129	.	GRCh37	7	34867102	34867102	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	55	113	0	ENST00000360581.1:c.568C>G	p.Leu190Val	p.L190V	ENST00000360581	NM_207172.1	190	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS5443.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACACTGTCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000352839	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000359791	Transcript	.	.	ENSG00000187258	23631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.25)	.	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,missense_variant,p.Leu190Val,ENST00000359791,;NPSR1,missense_variant,p.Leu179Val,ENST00000531252,;NPSR1,missense_variant,p.Leu190Val,ENST00000381539,;NPSR1,missense_variant,p.Leu124Val,ENST00000381542,;NPSR1,missense_variant,p.Leu190Val,ENST00000360581,;NPSR1-AS1,intron_variant,,ENST00000436945,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000442669,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1,missense_variant,p.Thr155Ser,ENST00000381544,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;	696	113	99	SUCCESS
TNS3	64759	.	GRCh37	7	47440024	47440024	+	synonymous_variant	Silent	SNP	T	T	C	rs1007515217	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	50	216	0	ENST00000311160.9:c.885A>G	p.Glu295=	p.E295=	ENST00000311160	NM_022748.11	295	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS5506.2	885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAATTCAAC	NONE	.	.	Superfamily_domains:SSF49562,Pfam_domain:PF10409,Gene3D:1d5rA02,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305,PROSITE_profiles:PS51182	.	.	ENSP00000381854	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,synonymous_variant,p.%3D,ENST00000398879,;TNS3,synonymous_variant,p.%3D,ENST00000311160,;TNS3,synonymous_variant,p.%3D,ENST00000457718,;TNS3,synonymous_variant,p.%3D,ENST00000450444,;TNS3,intron_variant,,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000442536,;TNS3,non_coding_transcript_exon_variant,,ENST00000469470,;TNS3,non_coding_transcript_exon_variant,,ENST00000485555,;	1252	216	199	SUCCESS
ABCA13	154664	.	GRCh37	7	48413971	48413971	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1054156439	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	28	112	0	ENST00000435803.1:c.11161C>A	p.Gln3721Lys	p.Q3721K	ENST00000435803	NM_152701.3	3721	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47584.1	11161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGACAAGGG	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Transmembrane_helices:TMhelix	.	.	ENSP00000411096	.	34/62	.	.	.	.	.	.	.	.	.	34/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Gln3721Lys,ENST00000435803,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;	11185	112	127	SUCCESS
TOP1MT	116447	.	GRCh37	8	144416922	144416922	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	75	140	0	ENST00000329245.4:c.110G>A	p.Gly37Asp	p.G37D	ENST00000329245	NM_052963.2	37	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS6400.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCCCTTC	NONE	.	.	.	.	.	ENSP00000328835	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000329245	Transcript	.	.	ENSG00000184428	29787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.34)	.	TOP1M_HUMAN	TOP1MT	HGNC	E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN	.	UPI000013716D	SNV	TOP1MT,missense_variant,p.Gly37Asp,ENST00000522043,;TOP1MT,missense_variant,p.Gly37Asp,ENST00000329245,;TOP1MT,5_prime_UTR_variant,,ENST00000523676,;TOP1MT,5_prime_UTR_variant,,ENST00000519591,;TOP1MT,intron_variant,,ENST00000520950,;TOP1MT,intron_variant,,ENST00000518760,;TOP1MT,intron_variant,,ENST00000519148,;TOP1MT,intron_variant,,ENST00000521193,;TOP1MT,intron_variant,,ENST00000518007,;TOP1MT,upstream_gene_variant,,ENST00000522041,;TOP1MT,upstream_gene_variant,,ENST00000519139,;TOP1MT,non_coding_transcript_exon_variant,,ENST00000524092,;TOP1MT,missense_variant,p.Gly32Asp,ENST00000523417,;TOP1MT,missense_variant,p.Gly37Asp,ENST00000518951,;	145	140	232	SUCCESS
ZNF7	7553	.	GRCh37	8	146068419	146068419	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	34	121	0	ENST00000528372.1:c.1927T>G	p.Phe643Val	p.F643V	ENST00000528372		643	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS6435.1	1927	RADIA|MUTECT|MUSE	.	AGATATTTAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,missense_variant,p.Phe643Val,ENST00000528372,;ZNF7,missense_variant,p.Phe654Val,ENST00000446747,;ZNF7,missense_variant,p.Phe643Val,ENST00000325241,;ZNF7,missense_variant,p.Phe547Val,ENST00000544249,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	2167	121	196	SUCCESS
ZNF7	7553	.	GRCh37	8	146068438	146068438	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	32	133	0	ENST00000528372.1:c.1946T>C	p.Leu649Pro	p.L649P	ENST00000528372		649	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS6435.1	1946	RADIA|MUTECT|MUSE	.	ACACCTAATTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,missense_variant,p.Leu649Pro,ENST00000528372,;ZNF7,missense_variant,p.Leu660Pro,ENST00000446747,;ZNF7,missense_variant,p.Leu649Pro,ENST00000325241,;ZNF7,missense_variant,p.Leu553Pro,ENST00000544249,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	2186	133	202	SUCCESS
TEX15	56154	.	GRCh37	8	30706087	30706087	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	109	0	ENST00000256246.2:c.447T>C	p.Cys149=	p.C149=	ENST00000256246	NM_031271.3	149	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS6080.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTACATTG	NONE	.	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	.	.	ENSP00000256246	.	1/4	.	.	.	.	.	.	.	.	COSM605332	1/4	PASS	ENST00000256246	Transcript	.	.	ENSG00000133863	11738	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,synonymous_variant,p.%3D,ENST00000256246,;TEX15,downstream_gene_variant,,ENST00000523186,;	522	109	52	SUCCESS
POTEA	340441	.	GRCh37	8	43173613	43173613	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	86	245	2	ENST00000519951.2:n.1037G>T		p.*346*	ENST00000519951				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	GAAATGCAGAA	NONE	.	.	.	.	.	.	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000519951	Transcript	.	.	ENSG00000188877	33893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	POTEA	HGNC	.	.	.	SNV	POTEA,non_coding_transcript_exon_variant,,ENST00000522175,;POTEA,non_coding_transcript_exon_variant,,ENST00000519951,;RP11-726G23.12,downstream_gene_variant,,ENST00000533569,;	1037	247	120	SUCCESS
POTEA	340441	.	GRCh37	8	43173614	43173614	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs547056757	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	85	249	1	ENST00000519951.2:n.1038C>T		p.*346*	ENST00000519951				0	.	T:0	.	T:0	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCAGAAG	NONE	byFrequency|by1000G	.	.	T:0	.	.	T:0	9/14	.	.	.	.	.	.	.	.	rs547056757	9/14	common_in_exac	ENST00000519951	Transcript	.	T:0.0022	ENSG00000188877	33893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0112	.	.	.	POTEA	HGNC	.	.	.	SNV	POTEA,non_coding_transcript_exon_variant,,ENST00000522175,;POTEA,non_coding_transcript_exon_variant,,ENST00000519951,;RP11-726G23.12,downstream_gene_variant,,ENST00000533569,;	1038	250	118	SUCCESS
PRKDC	5591	.	GRCh37	8	48840368	48840368	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1456557309	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	220	69	160	0	ENST00000314191.2:c.2222T>C	p.Ile741Thr	p.I741T	ENST00000314191	NM_006904.6	741	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	.	2222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAATGATG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	20/87	.	.	.	.	.	.	.	.	.	20/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Ile741Thr,ENST00000338368,;PRKDC,missense_variant,p.Ile741Thr,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000541488,;	2279	160	290	SUCCESS
IMPAD1	0	.	GRCh37	8	57906212	57906212	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs983944939	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	366	11	134	0	ENST00000262644.4:c.-68G>T		p.*23*	ENST00000262644	NM_017813.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6169.1	.	MUTECT|MUSE	.	GCCGCCGCAGC	NONE	.	.	.	.	.	ENSP00000262644	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000262644	Transcript	1	.	ENSG00000104331	26019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMPA3_HUMAN	IMPAD1	HGNC	.	.	UPI000006DE7A	SNV	IMPAD1,5_prime_UTR_variant,,ENST00000262644,;IMPAD1,upstream_gene_variant,,ENST00000517461,;	192	134	378	SUCCESS
TPD52	7163	.	GRCh37	8	80954863	80954863	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	18	48	0	ENST00000379097.3:c.547A>T	p.Asn183Tyr	p.N183Y	ENST00000379097	NM_001025252.1	183	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS34912.1	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTTTTCGA	NONE	.	.	hmmpanther:PTHR19307:SF12,hmmpanther:PTHR19307,Pfam_domain:PF04201	.	.	ENSP00000368391	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000379097	Transcript	.	.	ENSG00000076554	12005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	TPD52_HUMAN	TPD52	HGNC	.	.	UPI000000D76B	SNV	TPD52,missense_variant,p.Asn143Tyr,ENST00000379096,;TPD52,missense_variant,p.Asn192Tyr,ENST00000517427,;TPD52,missense_variant,p.Asn183Tyr,ENST00000379097,;TPD52,missense_variant,p.Asn166Tyr,ENST00000518937,;TPD52,missense_variant,p.Asn206Tyr,ENST00000520527,;TPD52,missense_variant,p.Asn183Tyr,ENST00000537855,;TPD52,missense_variant,p.Asn19Tyr,ENST00000519303,;TPD52,missense_variant,p.Asn197Tyr,ENST00000448733,;TPD52,non_coding_transcript_exon_variant,,ENST00000523395,;TPD52,non_coding_transcript_exon_variant,,ENST00000520877,;TPD52,3_prime_UTR_variant,,ENST00000517462,;TPD52,3_prime_UTR_variant,,ENST00000521354,;TPD52,3_prime_UTR_variant,,ENST00000521241,;TPD52,3_prime_UTR_variant,,ENST00000518517,;TPD52,non_coding_transcript_exon_variant,,ENST00000521618,;TPD52,non_coding_transcript_exon_variant,,ENST00000523193,;TPD52,non_coding_transcript_exon_variant,,ENST00000517445,;TPD52,non_coding_transcript_exon_variant,,ENST00000523319,;TPD52,non_coding_transcript_exon_variant,,ENST00000524194,;TPD52,downstream_gene_variant,,ENST00000523753,;	910	48	98	SUCCESS
NECAB1	64168	.	GRCh37	8	91836943	91836943	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	263	41	169	0	ENST00000417640.2:c.125-2A>T		p.X42_splice	ENST00000417640	NM_022351.4	42		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47889.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAGATGA	NONE	.	.	.	.	.	ENSP00000387380	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000417640	Transcript	.	.	ENSG00000123119	20983	.	.	HIGH	2/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NECA1_HUMAN	NECAB1	HGNC	.	.	UPI0000070EEA	SNV	NECAB1,splice_acceptor_variant,,ENST00000417640,;RP11-662G23.1,intron_variant,,ENST00000517884,;NECAB1,splice_acceptor_variant,,ENST00000521954,;NECAB1,splice_acceptor_variant,,ENST00000522729,;NECAB1,splice_acceptor_variant,,ENST00000523962,;	.	169	304	SUCCESS
ABCA1	19	.	GRCh37	9	107571793	107571793	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	132	0	ENST00000374736.3:c.4228A>G	p.Lys1410Glu	p.K1410E	ENST00000374736	NM_005502.3	1410	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS6762.1	4228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTTGGTGA	BUFFER|p.A1407T|c.4219G>A|5	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698	.	.	ENSP00000363868	.	30/50	.	.	.	.	.	.	.	.	.	30/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Lys1410Glu,ENST00000374736,;	4623	132	105	SUCCESS
KIAA0368	0	.	GRCh37	9	114134013	114134013	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	100	0	ENST00000259335.4:c.5159C>T	p.Ala1720Val	p.A1720V	ENST00000259335	NM_001080398.1	1720	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS48006.1	5159	MUTECT|MUSE	.	CAATTGCACCC	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	44/51	.	.	.	.	.	.	.	.	.	44/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Ala1542Val,ENST00000338205,;KIAA0368,missense_variant,p.Ala19Val,ENST00000374383,;KIAA0368,missense_variant,p.Ala6Val,ENST00000374378,;KIAA0368,missense_variant,p.Ala1720Val,ENST00000259335,;KIAA0368,upstream_gene_variant,,ENST00000465499,;	5159	100	77	SUCCESS
KIAA0368	0	.	GRCh37	9	114187765	114187765	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	47	200	0	ENST00000259335.4:c.1682T>C	p.Ile561Thr	p.I561T	ENST00000259335	NM_001080398.1	561	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS48006.1	1682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGATTTCT	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Pfam_domain:PF13001,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	13/51	.	.	.	.	.	.	.	.	.	13/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.95)	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Ile383Thr,ENST00000338205,;KIAA0368,missense_variant,p.Ile389Thr,ENST00000602447,;KIAA0368,missense_variant,p.Ile561Thr,ENST00000259335,;	1682	200	158	SUCCESS
OR1L4	254973	.	GRCh37	9	125486747	125486747	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370090548	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	120	0	ENST00000259466.1:c.479G>A	p.Arg160His	p.R160H	ENST00000259466	NM_001005235.1	160	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS35129.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGCGTGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF194,PROSITE_profiles:PS50262	.	A:0.0001	ENSP00000259466	.	1/1	.	.	.	.	.	.	.	.	rs370090548,COSM2157385	1/1	PASS	ENST00000259466	Transcript	.	.	ENSG00000136939	8216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.013)	.	tolerated(1)	0,1	OR1L4_HUMAN	OR1L4	HGNC	.	.	UPI0000061E7A	SNV	OR1L4,missense_variant,p.Arg160His,ENST00000259466,;	479	120	75	SUCCESS
SLC25A25	114789	.	GRCh37	9	130866085	130866085	+	synonymous_variant	Silent	SNP	G	G	T	rs771071856	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	81	0	ENST00000373064.5:c.612G>T	p.Thr204=	p.T204=	ENST00000373064	NM_052901.4	204	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS35151.1	714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGGCCCC	NONE	byFrequency|byCluster	.	Prints_domain:PR00926,Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF222,PROSITE_profiles:PS50920	.	.	ENSP00000362159	.	5/10	.	.	.	.	.	.	.	.	rs771071856	5/10	PASS	ENST00000373068	Transcript	.	.	ENSG00000148339	20663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCMC2_HUMAN	SLC25A25	HGNC	.	.	UPI00002118BE	SNV	SLC25A25,synonymous_variant,p.%3D,ENST00000433501,;SLC25A25,synonymous_variant,p.%3D,ENST00000373066,;SLC25A25,synonymous_variant,p.%3D,ENST00000373068,;SLC25A25,synonymous_variant,p.%3D,ENST00000373064,;SLC25A25,synonymous_variant,p.%3D,ENST00000373069,;SLC25A25,synonymous_variant,p.%3D,ENST00000432073,;SLC25A25,synonymous_variant,p.%3D,ENST00000466983,;RP11-395P17.11,downstream_gene_variant,,ENST00000602939,;SLC25A25,non_coding_transcript_exon_variant,,ENST00000445012,;SLC25A25,downstream_gene_variant,,ENST00000472769,;	833	81	56	SUCCESS
SLC2A6	11182	.	GRCh37	9	136337188	136337188	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	75	0	ENST00000371899.4:c.1479G>C	p.Gln493His	p.Q493H	ENST00000371899	NM_017585.3	493	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS6975.1	1479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGATCTGCTC	NONE	.	.	hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000360966	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000371899	Transcript	.	.	ENSG00000160326	11011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GTR6_HUMAN	SLC2A6	HGNC	.	.	UPI0000001BE8	SNV	SLC2A6,missense_variant,p.Gln431His,ENST00000371897,;SLC2A6,missense_variant,p.Gln493His,ENST00000371899,;SLC2A6,downstream_gene_variant,,ENST00000414172,;SLC2A6,downstream_gene_variant,,ENST00000432868,;CACFD1,downstream_gene_variant,,ENST00000540581,;CACFD1,downstream_gene_variant,,ENST00000291722,;CACFD1,downstream_gene_variant,,ENST00000542192,;CACFD1,downstream_gene_variant,,ENST00000444798,;CACFD1,downstream_gene_variant,,ENST00000316948,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;CACFD1,downstream_gene_variant,,ENST00000474734,;	1557	75	65	SUCCESS
ANAPC2	29882	.	GRCh37	9	140075299	140075299	+	synonymous_variant	Silent	SNP	A	A	G	rs371943537	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	55	0	ENST00000323927.2:c.1551T>C	p.Asn517=	p.N517=	ENST00000323927	NM_013366.3	517	aaT/aaC	0	G:0.0005	.	.	.	.	G	N	protein_coding	YES	CCDS7033.1	1551	RADIA|MUTECT|MUSE	.	TACTCATTGAT	NONE	byCluster	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Gene3D:1.20.1310.10,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	G:0	ENSP00000314004	.	8/13	.	.	.	.	.	.	.	.	rs371943537	8/13	PASS	ENST00000323927	Transcript	.	.	ENSG00000176248	19989	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANC2_HUMAN	ANAPC2	HGNC	B4DJR9_HUMAN	.	UPI0000043E1B	SNV	ANAPC2,synonymous_variant,p.%3D,ENST00000323927,;ANAPC2,downstream_gene_variant,,ENST00000495611,;ANAPC2,downstream_gene_variant,,ENST00000471131,;ANAPC2,upstream_gene_variant,,ENST00000493730,;ANAPC2,upstream_gene_variant,,ENST00000487917,;ANAPC2,upstream_gene_variant,,ENST00000483432,;ANAPC2,upstream_gene_variant,,ENST00000485970,;	1556	55	36	SUCCESS
ANAPC2	29882	.	GRCh37	9	140075345	140075345	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	58	0	ENST00000323927.2:c.1505T>G	p.Ile502Ser	p.I502S	ENST00000323927	NM_013366.3	502	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS7033.1	1505	RADIA|MUTECT|MUSE	.	GGCTGATGATG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Gene3D:1.20.1310.10,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000314004	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000323927	Transcript	.	.	ENSG00000176248	19989	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ANC2_HUMAN	ANAPC2	HGNC	B4DJR9_HUMAN	.	UPI0000043E1B	SNV	ANAPC2,missense_variant,p.Ile502Ser,ENST00000323927,;ANAPC2,downstream_gene_variant,,ENST00000495611,;ANAPC2,downstream_gene_variant,,ENST00000471131,;ANAPC2,upstream_gene_variant,,ENST00000493730,;ANAPC2,upstream_gene_variant,,ENST00000487917,;ANAPC2,upstream_gene_variant,,ENST00000483432,;ANAPC2,upstream_gene_variant,,ENST00000485970,;	1510	58	43	SUCCESS
RP11-171A24.3	0	.	GRCh37	9	77112783	77112783	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	30	0	ENST00000417576.2:n.886+375C>T		p.*296*	ENST00000417576				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6646.1	.	MUTECT|MUSE	.	GAGCAGCTCTT	NONE	.	.	.	.	.	ENSP00000366093	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000376896	Transcript	.	.	ENSG00000198963	10259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RORB_HUMAN	RORB	HGNC	Q58EY0_HUMAN	.	UPI000015FD94	SNV	RORB,5_prime_UTR_variant,,ENST00000376896,;RP11-171A24.3,intron_variant,,ENST00000417576,;	503	30	14	SUCCESS
C9orf64	84267	.	GRCh37	9	86559849	86559849	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	94	0	ENST00000376344.3:c.653G>A	p.Ser218Asn	p.S218N	ENST00000376344	NM_032307.3	218	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS6666.2	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACTCCAC	NONE	.	.	hmmpanther:PTHR21314:SF0,hmmpanther:PTHR21314,Pfam_domain:PF10343	.	.	ENSP00000365522	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000376344	Transcript	.	.	ENSG00000165118	28144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.06)	.	CI064_HUMAN	C9orf64	HGNC	Q5T6V7_HUMAN	.	UPI000013E45E	SNV	C9orf64,missense_variant,p.Ser77Asn,ENST00000314700,;C9orf64,missense_variant,p.Ser218Asn,ENST00000376344,;	870	94	74	SUCCESS
AIFM1	9131	.	GRCh37	X	129265689	129265689	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs369259253	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	89	87	0	ENST00000287295.3:c.1534A>G	p.Thr512Ala	p.T512A	ENST00000287295	NM_004208.3	512	Act/Gct	0	C:0.0003	C:0	.	C:0	.	C	T/A	protein_coding	YES	CCDS14618.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTTGCTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF33,Pfam_domain:PF14721,Gene3D:3.30.390.30,Superfamily_domains:SSF55424	C:0	C:0	ENSP00000287295	C:0	14/16	.	.	.	.	.	.	.	.	rs369259253	14/16	PASS	ENST00000287295	Transcript	.	C:0.0003	ENSG00000156709	8768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0.001	deleterious(0.02)	.	AIFM1_HUMAN	AIFM1	HGNC	E9PMA0_HUMAN	.	UPI00001313DB	SNV	AIFM1,missense_variant,p.Thr160Ala,ENST00000440263,;AIFM1,missense_variant,p.Thr508Ala,ENST00000319908,;AIFM1,missense_variant,p.Thr512Ala,ENST00000287295,;AIFM1,missense_variant,p.Thr173Ala,ENST00000460436,;AIFM1,missense_variant,p.Thr225Ala,ENST00000346424,;AIFM1,3_prime_UTR_variant,,ENST00000535724,;AIFM1,3_prime_UTR_variant,,ENST00000416073,;AIFM1,3_prime_UTR_variant,,ENST00000527892,;AIFM1,downstream_gene_variant,,ENST00000533719,;	1765	87	106	SUCCESS
ABCD1	215	.	GRCh37	X	153005587	153005587	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	37	46	0	ENST00000218104.3:c.1530C>G	p.Gly510=	p.G510=	ENST00000218104	NM_000033.3	510	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS14728.1	1530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCTGCGG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF21,TIGRFAM_domain:TIGR00954,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000218104	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000218104	Transcript	.	.	ENSG00000101986	61	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCD1_HUMAN	ABCD1	HGNC	.	.	UPI0000000DF5	SNV	ABCD1,synonymous_variant,p.%3D,ENST00000443684,;ABCD1,synonymous_variant,p.%3D,ENST00000218104,;U52111.14,intron_variant,,ENST00000434284,;	1929	46	77	SUCCESS
HDX	139324	.	GRCh37	X	83588776	83588776	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	207	186	0	ENST00000297977.5:c.1815G>A	p.Leu605=	p.L605=	ENST00000297977	NM_001177479.1	605	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35342.1	1815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCCAAGAA	NONE	.	.	hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000297977	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000297977	Transcript	.	.	ENSG00000165259	26411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDX_HUMAN	HDX	HGNC	E2QRN0_HUMAN	.	UPI00001A9DA4	SNV	HDX,synonymous_variant,p.%3D,ENST00000506585,;HDX,synonymous_variant,p.%3D,ENST00000373177,;HDX,synonymous_variant,p.%3D,ENST00000297977,;	1927	186	253	SUCCESS
HDX	139324	.	GRCh37	X	83588777	83588777	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	209	187	0	ENST00000297977.5:c.1814T>G	p.Leu605Trp	p.L605W	ENST00000297977	NM_001177479.1	605	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS35342.1	1814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCAAGAAA	NONE	.	.	hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000297977	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000297977	Transcript	.	.	ENSG00000165259	26411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HDX_HUMAN	HDX	HGNC	E2QRN0_HUMAN	.	UPI00001A9DA4	SNV	HDX,missense_variant,p.Leu547Trp,ENST00000506585,;HDX,missense_variant,p.Leu605Trp,ENST00000373177,;HDX,missense_variant,p.Leu605Trp,ENST00000297977,;	1926	187	254	SUCCESS
CCDC172	374355	.	GRCh37	10	118084838	118084838	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs868026474	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	90	210	0	ENST00000333254.3:c.103C>G	p.Arg35Gly	p.R35G	ENST00000333254	NM_198515.2	35	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS31291.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCGTGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22419,hmmpanther:PTHR22419:SF2	.	.	ENSP00000329860	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000333254	Transcript	.	.	ENSG00000182645	30524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious(0.05)	.	CC172_HUMAN	CCDC172	HGNC	.	.	UPI000000DAB5	SNV	CCDC172,missense_variant,p.Arg35Gly,ENST00000333254,;CCDC172,non_coding_transcript_exon_variant,,ENST00000497093,;	354	210	270	SUCCESS
JAKMIP3	282973	.	GRCh37	10	133955475	133955475	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	49	0	ENST00000298622.4:c.1525T>C	p.Tyr509His	p.Y509H	ENST00000298622	NM_001105521.2	509	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS44494.1	1525	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGAGTACCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935:SF5,hmmpanther:PTHR18935	.	.	ENSP00000298622	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000298622	Transcript	.	.	ENSG00000188385	23523	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	JKIP3_HUMAN	JAKMIP3	HGNC	.	.	UPI000157482F	SNV	JAKMIP3,missense_variant,p.Tyr509His,ENST00000298622,;JAKMIP3,upstream_gene_variant,,ENST00000477275,;	1663	49	39	SUCCESS
PCDH15	65217	.	GRCh37	10	55698674	55698674	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	50	0	ENST00000320301.6:c.3274A>G	p.Asn1092Asp	p.N1092D	ENST00000320301	NM_033056.3	1092	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS44404.1	3274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATTCACAT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.32)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Asn1021Asp,ENST00000437009,;PCDH15,missense_variant,p.Asn1070Asp,ENST00000395433,;PCDH15,missense_variant,p.Asn1099Asp,ENST00000395445,;PCDH15,missense_variant,p.Asn1092Asp,ENST00000320301,;PCDH15,missense_variant,p.Asn703Asp,ENST00000409834,;PCDH15,missense_variant,p.Asn1055Asp,ENST00000395432,;PCDH15,missense_variant,p.Asn1092Asp,ENST00000361849,;PCDH15,missense_variant,p.Asn1092Asp,ENST00000395438,;PCDH15,missense_variant,p.Asn1097Asp,ENST00000414778,;PCDH15,missense_variant,p.Asn1099Asp,ENST00000373965,;PCDH15,missense_variant,p.Asn1092Asp,ENST00000395430,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	3669	50	71	SUCCESS
CTNNA3	29119	.	GRCh37	10	67726454	67726454	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	23	65	0	ENST00000433211.2:c.2316T>A	p.Ile772=	p.I772=	ENST00000433211	NM_013266.2	772	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS7269.1	2316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTAATCTG	NONE	.	.	hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220,Prints_domain:PR00805	.	.	ENSP00000389714	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000433211	Transcript	1	.	ENSG00000183230	2511	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNA3_HUMAN	CTNNA3	HGNC	Q5SW23_HUMAN,A6NKP0_HUMAN	.	UPI000004A0E6	SNV	CTNNA3,synonymous_variant,p.%3D,ENST00000433211,;CTNNA3,synonymous_variant,p.%3D,ENST00000373744,;CTNNA3,non_coding_transcript_exon_variant,,ENST00000373735,;	2491	65	98	SUCCESS
CTNNA3	29119	.	GRCh37	10	67862920	67862920	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1215420249	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	71	0	ENST00000433211.2:c.1972G>A	p.Asp658Asn	p.D658N	ENST00000433211	NM_013266.2	658	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS7269.1	1972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATCAGTTT	NONE	.	.	hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044	.	.	ENSP00000389714	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000433211	Transcript	1	.	ENSG00000183230	2511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.37)	.	CTNA3_HUMAN	CTNNA3	HGNC	Q5SW23_HUMAN,A6NKP0_HUMAN	.	UPI000004A0E6	SNV	CTNNA3,missense_variant,p.Asp658Asn,ENST00000433211,;CTNNA3,missense_variant,p.Asp658Asn,ENST00000373744,;RP11-210G22.1,intron_variant,,ENST00000608793,;	2147	71	89	SUCCESS
PBLD	64081	.	GRCh37	10	70045070	70045073	+	intron_variant	Intron	DEL	CAAA	CAAA	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	CAAA	CAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	54	0	ENST00000309049.4:c.754+32_754+35del		p.*252*	ENST00000309049				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7277.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTAGGCAAATAAAA	NONE	.	.	.	.	.	ENSP00000351619	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358769	Transcript	.	.	ENSG00000108187	23301	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PBLD_HUMAN	PBLD	HGNC	.	.	UPI0000000DCA	deletion	PBLD,frameshift_variant,p.Pro264IlefsTer4,ENST00000432941,;PBLD,frameshift_variant,p.Pro264IlefsTer4,ENST00000495025,;PBLD,intron_variant,,ENST00000468798,;PBLD,intron_variant,,ENST00000358769,;PBLD,intron_variant,,ENST00000309049,;PBLD,intron_variant,,ENST00000336578,;PBLD,downstream_gene_variant,,ENST00000277795,;	.	54	51	SUCCESS
GLUD1	2746	.	GRCh37	10	88827833	88827833	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	38	0	ENST00000277865.4:c.728C>T	p.Thr243Ile	p.T243I	ENST00000277865	NM_005271.3	243	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS7382.1	728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGGTGCTG	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.192.10,Superfamily_domains:SSF53223	.	.	ENSP00000277865	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000277865	Transcript	1	.	ENSG00000148672	4335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0.01)	.	DHE3_HUMAN	GLUD1	HGNC	Q9UQV0_HUMAN,E9KL48_HUMAN,B3KV55_HUMAN	.	UPI0000001C96	SNV	GLUD1,missense_variant,p.Thr243Ile,ENST00000277865,;GLUD1,missense_variant,p.Thr76Ile,ENST00000537649,;GLUD1,missense_variant,p.Thr110Ile,ENST00000544149,;GLUD1,upstream_gene_variant,,ENST00000474574,;	825	38	64	SUCCESS
UBE4A	9354	.	GRCh37	11	118243850	118243850	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753300119	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	90	0	ENST00000252108.3:c.771A>G	p.Ile257Met	p.I257M	ENST00000252108	NM_001204077.1	257	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS8396.1	792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATATTGGA	NONE	byFrequency	.	hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF2	.	.	ENSP00000387362	.	7/20	.	.	.	.	.	.	.	.	rs753300119	7/20	PASS	ENST00000431736	Transcript	.	.	ENSG00000110344	12499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	tolerated(0.15)	.	UBE4A_HUMAN	UBE4A	HGNC	B7Z7P0_HUMAN	.	UPI000013CD3F	SNV	UBE4A,missense_variant,p.Ile257Met,ENST00000252108,;UBE4A,missense_variant,p.Ile264Met,ENST00000431736,;	864	90	97	SUCCESS
TECTA	7007	.	GRCh37	11	120996462	120996462	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	25	0	ENST00000264037.2:c.1655A>G	p.Tyr552Cys	p.Y552C	ENST00000264037	NM_005422.2	552	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8434.1	1655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTATGACC	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339	.	.	ENSP00000376543	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Tyr552Cys,ENST00000264037,;TECTA,missense_variant,p.Tyr552Cys,ENST00000392793,;	1926	25	32	SUCCESS
LUZP2	338645	.	GRCh37	11	25004794	25004794	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	70	0	ENST00000336930.6:c.720C>A	p.Pro240=	p.P240=	ENST00000336930		240	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31446.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCAGGAA	NONE	.	.	Pfam_domain:PF15294,hmmpanther:PTHR22414	.	.	ENSP00000336817	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,synonymous_variant,p.%3D,ENST00000336930,;LUZP2,synonymous_variant,p.%3D,ENST00000533227,;LUZP2,downstream_gene_variant,,ENST00000529015,;	786	70	80	SUCCESS
BDNF	627	.	GRCh37	11	27721098	27721098	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	22	0	ENST00000356660.4:c.-22+613C>T		p.*8*	ENST00000356660	NM_001709.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGCAGAC	NONE	.	.	.	.	.	ENSP00000414303	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000438929	Transcript	.	.	ENSG00000176697	1033	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BDNF_HUMAN	BDNF	HGNC	S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN	.	UPI0001594492	SNV	BDNF,5_prime_UTR_variant,,ENST00000533131,;BDNF,5_prime_UTR_variant,,ENST00000395986,;BDNF,intron_variant,,ENST00000438929,;BDNF,intron_variant,,ENST00000356660,;BDNF,intron_variant,,ENST00000532997,;BDNF,intron_variant,,ENST00000395981,;BDNF,intron_variant,,ENST00000420794,;BDNF,intron_variant,,ENST00000418212,;BDNF,intron_variant,,ENST00000395983,;BDNF,intron_variant,,ENST00000395980,;BDNF,intron_variant,,ENST00000525950,;BDNF,intron_variant,,ENST00000395978,;BDNF,intron_variant,,ENST00000530861,;BDNF,intron_variant,,ENST00000314915,;BDNF,intron_variant,,ENST00000533246,;RP11-587D21.4,intron_variant,,ENST00000530663,;BDNF-AS,downstream_gene_variant,,ENST00000502161,;BDNF-AS,downstream_gene_variant,,ENST00000499568,;BDNF-AS,downstream_gene_variant,,ENST00000500662,;BDNF,intron_variant,,ENST00000584049,;BDNF,intron_variant,,ENST00000530786,;	.	22	24	SUCCESS
PRDM11	56981	.	GRCh37	11	45246226	45246226	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773353637	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	50	107	0	ENST00000530656.1:c.1303G>A	p.Asp435Asn	p.D435N	ENST00000530656		435	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS58130.1	1201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGACCCT	NONE	.	.	hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF3	.	.	ENSP00000394314	.	7/7	.	.	.	.	.	.	.	.	rs773353637	7/7	PASS	ENST00000424263	Transcript	.	.	ENSG00000019485	13996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated_low_confidence(0.41)	.	PRD11_HUMAN	PRDM11	HGNC	E9PJ09_HUMAN	.	UPI000013FA3F	SNV	PRDM11,missense_variant,p.Asp435Asn,ENST00000530656,;PRDM11,missense_variant,p.Asp435Asn,ENST00000263765,;PRDM11,missense_variant,p.Asp401Asn,ENST00000424263,;CTD-2560E9.3,intron_variant,,ENST00000527450,;PRDM11,intron_variant,,ENST00000528980,;	1446	107	136	SUCCESS
LRP4	4038	.	GRCh37	11	46897190	46897190	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	66	0	ENST00000378623.1:c.3742T>A	p.Leu1248Met	p.L1248M	ENST00000378623	NM_002334.3	1248	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS31478.1	3742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAATGTAT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000367888	.	27/38	.	.	.	.	.	.	.	.	.	27/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.625)	.	deleterious(0.01)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Leu1248Met,ENST00000378623,;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;	3985	66	70	SUCCESS
OR4S2	219431	.	GRCh37	11	55419192	55419192	+	synonymous_variant	Silent	SNP	A	A	G	rs113136726	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	52	78	0	ENST00000312422.2:c.813A>G	p.Val271=	p.V271=	ENST00000312422	NM_001004059.2	271	gtA/gtG	0	G:0.003	G:0.003	.	G:0	.	G	V	protein_coding	YES	CCDS31505.1	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTATTTTA	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G:0	G:0	ENSP00000310337	G:0	1/1	.	.	.	.	.	.	.	.	rs113136726	1/1	PASS	ENST00000312422	Transcript	.	G:0.0008	ENSG00000174982	15183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	OR4S2_HUMAN	OR4S2	HGNC	.	.	UPI00001D77D2	SNV	OR4S2,synonymous_variant,p.%3D,ENST00000312422,;	813	78	71	SUCCESS
OR9I1	219954	.	GRCh37	11	57886845	57886845	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	37	118	0	ENST00000302610.1:c.72G>A	p.Glu24=	p.E24=	ENST00000302610	NM_001005211.1	24	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS31542.1	72	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCTCCAA	NONE	.	.	hmmpanther:PTHR26452:SF232,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000302606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302610	Transcript	.	.	ENSG00000172377	14718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR9I1_HUMAN	OR9I1	HGNC	.	.	UPI0000041B43	SNV	OR9I1,synonymous_variant,p.%3D,ENST00000302610,;OR9Q1,intron_variant,,ENST00000335397,;	72	118	141	SUCCESS
TEX40	0	.	GRCh37	11	64070969	64070969	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs372953044	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	55	0	ENST00000328404.6:c.368T>C	p.Met123Thr	p.M123T	ENST00000328404	NM_001039496.1	123	aTg/aCg	0	C:0.0002	.	.	.	.	C	M/T	protein_coding	YES	.	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGTCAT	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000330877	.	3/5	.	.	.	.	.	.	.	.	rs372953044	3/5	PASS	ENST00000328404	Transcript	.	.	ENSG00000219435	19231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.53)	.	TEX40_HUMAN	TEX40	HGNC	F5H186_HUMAN	.	UPI000007117E	SNV	TEX40,missense_variant,p.Met123Thr,ENST00000328404,;TEX40,missense_variant,p.Met81Thr,ENST00000539943,;KCNK4,downstream_gene_variant,,ENST00000538767,;ESRRA,upstream_gene_variant,,ENST00000405666,;ESRRA,upstream_gene_variant,,ENST00000468670,;KCNK4,downstream_gene_variant,,ENST00000422670,;ESRRA,upstream_gene_variant,,ENST00000000442,;KCNK4,downstream_gene_variant,,ENST00000539216,;KCNK4,downstream_gene_variant,,ENST00000394525,;ESRRA,upstream_gene_variant,,ENST00000406310,;ESRRA,upstream_gene_variant,,ENST00000539594,;RP11-783K16.10,non_coding_transcript_exon_variant,,ENST00000539086,;KCNK4,downstream_gene_variant,,ENST00000536690,;KCNK4,downstream_gene_variant,,ENST00000453423,;KCNK4,downstream_gene_variant,,ENST00000541349,;TEX40,upstream_gene_variant,,ENST00000535981,;	388	55	51	SUCCESS
DCHS1	8642	.	GRCh37	11	6651061	6651061	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754913718	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	36	0	ENST00000299441.3:c.4877C>A	p.Ser1626Tyr	p.S1626Y	ENST00000299441	NM_003737.2	1626	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS7771.1	4877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGAGCCG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	11/21	.	.	.	.	.	.	.	.	rs754913718,COSM4035855	11/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.625)	.	tolerated(1)	0,1	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Ser1626Tyr,ENST00000299441,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	5289	36	53	SUCCESS
DCHS1	8642	.	GRCh37	11	6662053	6662053	+	synonymous_variant	Silent	SNP	C	C	A	rs754981163	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	36	65	0	ENST00000299441.3:c.792G>T	p.Val264=	p.V264=	ENST00000299441	NM_003737.2	264	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7771.1	792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACACCAC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	2/21	.	.	.	.	.	.	.	.	rs754981163	2/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,synonymous_variant,p.%3D,ENST00000299441,;	1204	65	90	SUCCESS
PGM2L1	283209	.	GRCh37	11	74049640	74049640	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	7	59	0	ENST00000298198.4:c.1639C>A	p.Pro547Thr	p.P547T	ENST00000298198	NM_173582.3	547	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8231.1	1639	MUTECT|MUSE	.	CACAGGCAGCA	NONE	.	.	Superfamily_domains:SSF55957,Gene3D:3.30.310.50,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF42	.	.	ENSP00000298198	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000298198	Transcript	.	.	ENSG00000165434	20898	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PGM2L_HUMAN	PGM2L1	HGNC	.	.	UPI0000072053	SNV	PGM2L1,missense_variant,p.Pro547Thr,ENST00000298198,;	1951	59	92	SUCCESS
TSPAN4	7106	.	GRCh37	11	862548	862548	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	34	0	ENST00000397397.2:c.64-2A>G		p.X22_splice	ENST00000397397	NM_003271.4	22		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7721.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCAGCTGG	NONE	.	.	.	.	.	ENSP00000380553	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397404	Transcript	.	.	ENSG00000214063	11859	.	.	HIGH	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN4_HUMAN	TSPAN4	HGNC	E9PSH3_HUMAN,E9PPX8_HUMAN,E9PMX4_HUMAN,A8MVV6_HUMAN	.	UPI000013683F	SNV	TSPAN4,splice_acceptor_variant,,ENST00000409543,;TSPAN4,splice_acceptor_variant,,ENST00000397396,;TSPAN4,splice_acceptor_variant,,ENST00000397411,;TSPAN4,splice_acceptor_variant,,ENST00000525334,;TSPAN4,splice_acceptor_variant,,ENST00000346501,;TSPAN4,splice_acceptor_variant,,ENST00000397397,;TSPAN4,splice_acceptor_variant,,ENST00000397404,;TSPAN4,splice_acceptor_variant,,ENST00000397406,;TSPAN4,splice_acceptor_variant,,ENST00000397408,;TSPAN4,splice_acceptor_variant,,ENST00000525201,;TSPAN4,splice_acceptor_variant,,ENST00000527644,;TSPAN4,splice_acceptor_variant,,ENST00000409531,;TSPAN4,splice_acceptor_variant,,ENST00000530404,;TSPAN4,intron_variant,,ENST00000532375,;CHID1,downstream_gene_variant,,ENST00000323541,;RP11-1391J7.1,upstream_gene_variant,,ENST00000506172,;TSPAN4,splice_acceptor_variant,,ENST00000526055,;TSPAN4,splice_acceptor_variant,,ENST00000468468,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000529566,;TSPAN4,intron_variant,,ENST00000524895,;TSPAN4,intron_variant,,ENST00000464987,;TSPAN4,upstream_gene_variant,,ENST00000494815,;	.	34	35	SUCCESS
TRIM66	9866	.	GRCh37	11	8667371	8667371	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141069498	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	31	66	0	ENST00000299550.6:c.586C>A	p.Arg196Ser	p.R196S	ENST00000299550	NM_014818.1	196	Cgt/Agt	0	.	A:0.0023	.	A:0	.	T	R/S	protein_coding	YES	.	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGGTTGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121,SMART_domains:SM00502	A:0	.	ENSP00000384876	A:0	9/22	.	.	.	.	.	.	.	.	rs141069498,COSM932774	9/22	PASS	ENST00000402157	Transcript	.	A:0.0006	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.91)	A:0	tolerated(0.14)	0,1	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Arg194Ser,ENST00000402157,;TRIM66,missense_variant,p.Arg196Ser,ENST00000299550,;TRIM66,non_coding_transcript_exon_variant,,ENST00000529057,;TRIM66,non_coding_transcript_exon_variant,,ENST00000531498,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	1021	66	121	SUCCESS
HECTD4	283450	.	GRCh37	12	112638561	112638561	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	54	157	0	ENST00000550722.1:c.8010A>T	p.Glu2670Asp	p.E2670D	ENST00000550722	NM_001109662.3	2670	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	.	8010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCTTCACT	NONE	.	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	55/76	.	.	.	.	.	.	.	.	.	55/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Glu2394Asp,ENST00000430131,;HECTD4,missense_variant,p.Glu2670Asp,ENST00000550722,;HECTD4,missense_variant,p.Glu2644Asp,ENST00000377560,;HECTD4,non_coding_transcript_exon_variant,,ENST00000548896,;HECTD4,downstream_gene_variant,,ENST00000550968,;	8406	157	144	SUCCESS
COQ5	84274	.	GRCh37	12	120954429	120954429	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	27	81	0	ENST00000288532.6:c.515T>G	p.Ile172Ser	p.I172S	ENST00000288532	NM_032314.3	172	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS31912.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGATGTCA	NONE	.	.	PROSITE_profiles:PS51608,HAMAP:MF_01813,hmmpanther:PTHR10108:SF24,hmmpanther:PTHR10108,TIGRFAM_domain:TIGR01934,Gene3D:3.40.50.150,Pfam_domain:PF01209,Superfamily_domains:SSF53335	.	.	ENSP00000288532	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000288532	Transcript	.	.	ENSG00000110871	28722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	COQ5_HUMAN	COQ5	HGNC	F8VVX6_HUMAN,F8VP53_HUMAN	.	UPI00001592AF	SNV	COQ5,missense_variant,p.Ile172Ser,ENST00000288532,;COQ5,missense_variant,p.Ile91Ser,ENST00000551769,;COQ5,missense_variant,p.Ile91Ser,ENST00000552443,;COQ5,missense_variant,p.Ile122Ser,ENST00000547943,;COQ5,intron_variant,,ENST00000445328,;COQ5,non_coding_transcript_exon_variant,,ENST00000546838,;	556	81	100	SUCCESS
CNTN1	1272	.	GRCh37	12	41331460	41331460	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	42	82	0	ENST00000347616.1:c.1199T>C	p.Ile400Thr	p.I400T	ENST00000347616		400	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS8737.1	1199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATTTATG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50835	.	.	ENSP00000447006	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.03)	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Ile400Thr,ENST00000360099,;CNTN1,missense_variant,p.Ile400Thr,ENST00000551295,;CNTN1,missense_variant,p.Ile400Thr,ENST00000347616,;CNTN1,missense_variant,p.Ile389Thr,ENST00000348761,;CNTN1,missense_variant,p.Ile400Thr,ENST00000547849,;CNTN1,missense_variant,p.Ile400Thr,ENST00000547702,;	1316	82	139	SUCCESS
ZNF740	283337	.	GRCh37	12	53578697	53578697	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	11	69	0	ENST00000416904.3:c.32G>A	p.Gly11Asp	p.G11D	ENST00000416904	NM_001004304.3	11	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS44896.1	32	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGCCTAG	NONE	.	.	hmmpanther:PTHR23229:SF93,hmmpanther:PTHR23229	.	.	ENSP00000409463	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000416904	Transcript	.	.	ENSG00000139651	27465	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.931)	.	deleterious(0.01)	.	ZN740_HUMAN	ZNF740	HGNC	.	.	UPI0000046CFF	SNV	ZNF740,missense_variant,p.Gly11Asp,ENST00000416904,;CSAD,upstream_gene_variant,,ENST00000424990,;CSAD,upstream_gene_variant,,ENST00000444623,;CSAD,upstream_gene_variant,,ENST00000437073,;CSAD,upstream_gene_variant,,ENST00000267085,;CSAD,upstream_gene_variant,,ENST00000379846,;CSAD,upstream_gene_variant,,ENST00000379843,;CSAD,upstream_gene_variant,,ENST00000379850,;CSAD,upstream_gene_variant,,ENST00000542115,;CSAD,upstream_gene_variant,,ENST00000453446,;ZNF740,upstream_gene_variant,,ENST00000551514,;ZNF740,non_coding_transcript_exon_variant,,ENST00000552593,;ZNF740,upstream_gene_variant,,ENST00000549739,;	477	69	96	SUCCESS
OR6C2	341416	.	GRCh37	12	55846217	55846217	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	63	0	ENST00000322678.1:c.220G>T	p.Val74Phe	p.V74F	ENST00000322678	NM_054105.1	74	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS31824.1	220	MUTECT|MUSE	.	CTACAGTCTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF48,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322678	Transcript	.	.	ENSG00000179695	15436	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	deleterious_low_confidence(0.01)	.	OR6C2_HUMAN	OR6C2	HGNC	.	.	UPI0000140EC9	SNV	OR6C2,missense_variant,p.Val74Phe,ENST00000322678,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	220	63	87	SUCCESS
OR6C70	390327	.	GRCh37	12	55863831	55863831	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	31	122	0	ENST00000327335.4:c.92T>C	p.Leu31Pro	p.L31P	ENST00000327335	NM_001005499.1	31	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31825.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTAGAAGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF17,hmmpanther:PTHR26454	.	.	ENSP00000329153	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327335	Transcript	.	.	ENSG00000184954	31299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious_low_confidence(0)	.	O6C70_HUMAN	OR6C70	HGNC	.	.	UPI000044D40E	SNV	OR6C70,missense_variant,p.Leu31Pro,ENST00000327335,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	92	122	120	SUCCESS
MYL6B	140465	.	GRCh37	12	56547602	56547602	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	58	0	ENST00000550443.1:c.-101T>A		p.*34*	ENST00000550443	NM_001199629.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8905.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTCCCTG	NONE	.	.	.	.	.	ENSP00000450385	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000553066	Transcript	.	.	ENSG00000196465	29823	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYL6B_HUMAN	MYL6B	HGNC	F8VSA2_HUMAN	.	UPI000012F1F0	SNV	MYL6B,5_prime_UTR_variant,,ENST00000550443,;MYL6B,5_prime_UTR_variant,,ENST00000551834,;MYL6B,intron_variant,,ENST00000552568,;MYL6B,intron_variant,,ENST00000553066,;MYL6B,intron_variant,,ENST00000207437,;MYL6,upstream_gene_variant,,ENST00000547649,;MYL6,upstream_gene_variant,,ENST00000548293,;MYL6,upstream_gene_variant,,ENST00000549566,;MYL6,upstream_gene_variant,,ENST00000551589,;MYL6,upstream_gene_variant,,ENST00000547408,;MYL6,upstream_gene_variant,,ENST00000348108,;MYL6,upstream_gene_variant,,ENST00000550697,;MYL6,upstream_gene_variant,,ENST00000549392,;MYL6,upstream_gene_variant,,ENST00000548580,;MYL6,upstream_gene_variant,,ENST00000549017,;MYL6,upstream_gene_variant,,ENST00000293422,;MYL6,upstream_gene_variant,,ENST00000536128,;MYL6,upstream_gene_variant,,ENST00000548400,;RP11-603J24.14,intron_variant,,ENST00000548731,;MYL6,upstream_gene_variant,,ENST00000552297,;MYL6B,upstream_gene_variant,,ENST00000548571,;MYL6,upstream_gene_variant,,ENST00000550639,;MYL6B,upstream_gene_variant,,ENST00000550152,;MYL6B,intron_variant,,ENST00000405661,;MYL6,upstream_gene_variant,,ENST00000546630,;MYL6,upstream_gene_variant,,ENST00000547703,;MYL6B,upstream_gene_variant,,ENST00000550550,;MYL6B,upstream_gene_variant,,ENST00000549380,;MYL6,upstream_gene_variant,,ENST00000550184,;MYL6,upstream_gene_variant,,ENST00000548725,;MYL6B,upstream_gene_variant,,ENST00000549178,;MYL6B,upstream_gene_variant,,ENST00000548548,;	.	58	59	SUCCESS
SLC6A15	55117	.	GRCh37	12	85255460	85255460	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	36	112	0	ENST00000266682.5:c.2144G>A	p.Gly715Glu	p.G715E	ENST00000266682	NM_182767.5	715	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9026.1	2144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCCTATT	NONE	.	.	.	.	.	ENSP00000266682	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Gly608Glu,ENST00000552192,;SLC6A15,missense_variant,p.Gly715Glu,ENST00000266682,;SLC6A15,3_prime_UTR_variant,,ENST00000309283,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000548267,;	2686	112	121	SUCCESS
A2M	2	.	GRCh37	12	9265122	9265122	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749221334	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	55	0	ENST00000318602.7:c.281C>T	p.Ser94Phe	p.S94F	ENST00000318602	NM_000014.4	94	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS44827.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGACTTT	NONE	.	.	hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412	.	.	ENSP00000323929	.	3/36	.	.	.	.	.	.	.	.	rs749221334	3/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.71)	.	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	SNV	A2M,missense_variant,p.Ser94Phe,ENST00000404455,;A2M,missense_variant,p.Ser94Phe,ENST00000318602,;A2M,downstream_gene_variant,,ENST00000497324,;A2M,downstream_gene_variant,,ENST00000467091,;A2M,intron_variant,,ENST00000539638,;	589	55	53	SUCCESS
ZMYM5	9205	.	GRCh37	13	20425899	20425899	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	46	127	0	ENST00000337963.4:c.422G>T	p.Trp141Leu	p.W141L	ENST00000337963	NM_001142684.1	141	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS31942.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCATTCG	NONE	.	.	.	.	.	ENSP00000372361	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000382905	Transcript	.	.	ENSG00000132950	13029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	deleterious_low_confidence(0.01)	.	ZMYM5_HUMAN	ZMYM5	HGNC	.	.	UPI0000070FA9	SNV	ZMYM5,missense_variant,p.Trp141Leu,ENST00000382907,;ZMYM5,missense_variant,p.Trp141Leu,ENST00000337963,;ZMYM5,missense_variant,p.Trp141Leu,ENST00000382905,;ZMYM5,missense_variant,p.Trp131Leu,ENST00000502168,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000382909,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000467542,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000495534,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000535942,;	575	127	148	SUCCESS
CCDC169	728591	.	GRCh37	13	36822795	36822795	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs576535002	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	67	0	ENST00000239859.7:c.493A>G	p.Lys165Glu	p.K165E	ENST00000239859		165	Aaa/Gaa	0	.	C:0.0008	.	C:0	.	C	K/E	protein_coding	YES	CCDS55897.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTTAGAAA	NONE	by1000G	.	Pfam_domain:PF15372	C:0	.	ENSP00000426174	C:0	7/8	.	.	.	.	.	.	.	.	rs576535002	7/8	PASS	ENST00000503173	Transcript	.	C:0.0002	ENSG00000242715	34361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	C:0	tolerated(0.25)	.	CC169_HUMAN	CCDC169	HGNC	.	.	UPI0000227E78	SNV	CCDC169,missense_variant,p.Lys63Glu,ENST00000379864,;CCDC169,missense_variant,p.Lys63Glu,ENST00000491049,;CCDC169,missense_variant,p.Lys165Glu,ENST00000239859,;CCDC169,missense_variant,p.Lys63Glu,ENST00000510088,;CCDC169,missense_variant,p.Lys65Glu,ENST00000239860,;CCDC169,missense_variant,p.Lys63Glu,ENST00000379862,;CCDC169-SOHLH2,missense_variant,p.Lys65Glu,ENST00000511166,;CCDC169,missense_variant,p.Lys165Glu,ENST00000503173,;SOHLH2,missense_variant,p.Lys65Glu,ENST00000554962,;CCDC169,non_coding_transcript_exon_variant,,ENST00000471781,;CCDC169,non_coding_transcript_exon_variant,,ENST00000486683,;CCDC169,non_coding_transcript_exon_variant,,ENST00000479850,;CCDC169,missense_variant,p.Lys63Glu,ENST00000506800,;	523	67	76	SUCCESS
SUPT20H	55578	.	GRCh37	13	37583814	37583814	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	127	0	ENST00000350612.6:c.2335T>C	p.Phe779Leu	p.F779L	ENST00000350612	NM_001014286.2	779	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS31959.1	2335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAATTTTG	CODON|p.F779C|c.2336T>G|3	.	.	.	.	.	ENSP00000218894	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000350612	Transcript	.	.	ENSG00000102710	20596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,missense_variant,p.Phe378Leu,ENST00000469488,;SUPT20H,missense_variant,p.Phe779Leu,ENST00000350612,;SUPT20H,3_prime_UTR_variant,,ENST00000360252,;SUPT20H,3_prime_UTR_variant,,ENST00000356185,;SUPT20H,3_prime_UTR_variant,,ENST00000464744,;SUPT20H,3_prime_UTR_variant,,ENST00000475892,;EXOSC8,downstream_gene_variant,,ENST00000389704,;EXOSC8,downstream_gene_variant,,ENST00000481013,;EXOSC8,downstream_gene_variant,,ENST00000489088,;EXOSC8,downstream_gene_variant,,ENST00000488779,;EXOSC8,downstream_gene_variant,,ENST00000474661,;EXOSC8,downstream_gene_variant,,ENST00000464235,;SUPT20H,3_prime_UTR_variant,,ENST00000490716,;SUPT20H,3_prime_UTR_variant,,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000473871,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000484078,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000472948,;EXOSC8,downstream_gene_variant,,ENST00000490537,;EXOSC8,downstream_gene_variant,,ENST00000495092,;EXOSC8,downstream_gene_variant,,ENST00000239893,;	2556	127	66	SUCCESS
MRPS31	10240	.	GRCh37	13	41345190	41345190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	35	115	0	ENST00000323563.6:c.83C>T	p.Ala28Val	p.A28V	ENST00000323563	NM_005830.3	28	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9372.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCTGAT	NONE	.	.	.	.	.	ENSP00000315397	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000323563	Transcript	.	.	ENSG00000102738	16632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.31)	.	RT31_HUMAN	MRPS31	HGNC	.	.	UPI000013D1D3	SNV	MRPS31,missense_variant,p.Ala28Val,ENST00000323563,;MRPS31,upstream_gene_variant,,ENST00000435009,;	120	115	63	SUCCESS
LRRC63	220416	.	GRCh37	13	46801979	46801979	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs979473751	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	95	0	ENST00000378805.3:c.418G>A	p.Val140Ile	p.V140I	ENST00000378805		140	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS61325.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGTTTAT	NONE	.	.	.	.	.	ENSP00000469337	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000595396	Transcript	.	.	ENSG00000173988	34296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	.	LRRC63	HGNC	M0QXR7_HUMAN	.	UPI0002742DC2	SNV	LRRC63,missense_variant,p.Val140Ile,ENST00000446175,;LRRC63,missense_variant,p.Val140Ile,ENST00000595396,;LRRC63,missense_variant,p.Val140Ile,ENST00000378805,;	418	95	54	SUCCESS
GPR183	1880	.	GRCh37	13	99948232	99948232	+	synonymous_variant	Silent	SNP	A	A	T	rs768694635	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	49	176	0	ENST00000376414.4:c.168T>A	p.Ile56=	p.I56=	ENST00000376414	NM_004951.4	56	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9492.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACAATGAC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24237:SF7,hmmpanther:PTHR24237,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000365596	.	2/2	.	.	.	.	.	.	.	.	rs768694635	2/2	PASS	ENST00000376414	Transcript	.	.	ENSG00000169508	3128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP183_HUMAN	GPR183	HGNC	.	.	UPI0000001068	SNV	GPR183,synonymous_variant,p.%3D,ENST00000376414,;UBAC2,intron_variant,,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;UBAC2,intron_variant,,ENST00000494576,;UBAC2,intron_variant,,ENST00000473091,;UBAC2,intron_variant,,ENST00000468067,;	252	176	179	SUCCESS
MARK3	4140	.	GRCh37	14	103969371	103969371	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760433327	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	43	108	0	ENST00000429436.2:c.2069A>G	p.Tyr690Cys	p.Y690C	ENST00000429436	NM_001128918.1	690	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45165.1	2069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTATGAGC	NONE	byFrequency	.	Superfamily_domains:SSF103243,Gene3D:3.30.310.80,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF1	.	.	ENSP00000411397	.	18/18	.	.	.	.	.	.	.	.	rs760433327	18/18	PASS	ENST00000429436	Transcript	.	.	ENSG00000075413	6897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.12)	.	MARK3_HUMAN	MARK3	HGNC	Q86U11_HUMAN	.	UPI00004567CC	SNV	MARK3,missense_variant,p.Tyr689Cys,ENST00000416682,;MARK3,missense_variant,p.Tyr268Cys,ENST00000556744,;MARK3,missense_variant,p.Tyr713Cys,ENST00000335102,;MARK3,missense_variant,p.Tyr596Cys,ENST00000440884,;MARK3,missense_variant,p.Tyr442Cys,ENST00000554627,;MARK3,missense_variant,p.Tyr690Cys,ENST00000429436,;MARK3,missense_variant,p.Tyr650Cys,ENST00000216288,;MARK3,missense_variant,p.Tyr681Cys,ENST00000553942,;MARK3,missense_variant,p.Tyr159Cys,ENST00000561314,;MARK3,missense_variant,p.Tyr666Cys,ENST00000303622,;MARK3,non_coding_transcript_exon_variant,,ENST00000561071,;MARK3,non_coding_transcript_exon_variant,,ENST00000558787,;MARK3,non_coding_transcript_exon_variant,,ENST00000556463,;MARK3,non_coding_transcript_exon_variant,,ENST00000555235,;	2579	108	132	SUCCESS
NPAS3	64067	.	GRCh37	14	34269098	34269098	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1244283612	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	63	0	ENST00000356141.4:c.1585G>A	p.Asp529Asn	p.D529N	ENST00000356141		529	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS53891.1	1585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGACGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	.	.	ENSP00000348460	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0.01)	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,missense_variant,p.Asp499Asn,ENST00000548645,;NPAS3,missense_variant,p.Asp534Asn,ENST00000551492,;NPAS3,missense_variant,p.Asp503Asn,ENST00000551634,;NPAS3,missense_variant,p.Asp497Asn,ENST00000346562,;NPAS3,missense_variant,p.Asp516Asn,ENST00000357798,;NPAS3,missense_variant,p.Asp529Asn,ENST00000356141,;	1585	63	73	SUCCESS
DAAM1	23002	.	GRCh37	14	59819293	59819293	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	43	107	0	ENST00000395125.1:c.2240A>G	p.His747Arg	p.H747R	ENST00000395125	NM_014992.2	747	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9737.1	2240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACATAAAC	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000378557	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000395125	Transcript	.	.	ENSG00000100592	18142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	tolerated(0.07)	.	DAAM1_HUMAN	DAAM1	HGNC	.	.	UPI0000161FAA	SNV	DAAM1,missense_variant,p.His747Arg,ENST00000351081,;DAAM1,missense_variant,p.His747Arg,ENST00000395125,;DAAM1,missense_variant,p.His737Arg,ENST00000360909,;DAAM1,non_coding_transcript_exon_variant,,ENST00000554459,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553966,;DAAM1,upstream_gene_variant,,ENST00000557029,;DAAM1,upstream_gene_variant,,ENST00000553307,;	2263	107	133	SUCCESS
NOXRED1	122945	.	GRCh37	14	77861072	77861072	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768848948	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	55	139	0	ENST00000380835.2:c.982G>C	p.Val328Leu	p.V328L	ENST00000380835	NM_001113475.2	328	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS45142.1	982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACAGGAC	NONE	.	.	hmmpanther:PTHR11645,hmmpanther:PTHR11645:SF7	.	.	ENSP00000370215	.	6/6	.	.	.	.	.	.	.	.	rs768848948	6/6	PASS	ENST00000380835	Transcript	.	.	ENSG00000165555	20487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.54)	.	NXRD1_HUMAN	NOXRED1	HGNC	G3V2D4_HUMAN	.	UPI0000407F20	SNV	NOXRED1,missense_variant,p.Val328Leu,ENST00000380835,;SAMD15,downstream_gene_variant,,ENST00000216471,;SAMD15,downstream_gene_variant,,ENST00000533095,;NOXRED1,non_coding_transcript_exon_variant,,ENST00000555901,;	1149	139	171	SUCCESS
GALC	2581	.	GRCh37	14	88431941	88431941	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1595215209	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	37	131	0	ENST00000261304.2:c.941A>G	p.Tyr314Cys	p.Y314C	ENST00000261304	NM_000153.3	314	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9878.2	941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATAGTAA	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF02057,Gene3D:3.20.20.80,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1	.	.	ENSP00000261304	.	9/17	.	.	.	.	.	.	.	.	CM960684	9/17	PASS	ENST00000261304	Transcript	.	.	ENSG00000054983	4115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	.	GALC_HUMAN	GALC	HGNC	.	.	UPI00001FD982	SNV	GALC,missense_variant,p.Tyr291Cys,ENST00000393568,;GALC,missense_variant,p.Tyr258Cys,ENST00000544807,;GALC,missense_variant,p.Tyr288Cys,ENST00000393569,;GALC,missense_variant,p.Tyr314Cys,ENST00000261304,;GALC,non_coding_transcript_exon_variant,,ENST00000557520,;GALC,missense_variant,p.Tyr103Cys,ENST00000555000,;GALC,3_prime_UTR_variant,,ENST00000557316,;GALC,non_coding_transcript_exon_variant,,ENST00000474294,;GALC,downstream_gene_variant,,ENST00000477716,;	1048	131	134	SUCCESS
SERPINA3	12	.	GRCh37	14	95080836	95080836	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764923559	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	50	0	ENST00000393080.4:c.58G>T	p.Ala20Ser	p.A20S	ENST00000393080		20	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32150.1	58	MUTECT|MUSE	.	GCCCTGCTGTC	NONE	byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF56574	.	.	ENSP00000450540	.	2/5	.	.	.	.	.	.	.	.	rs764923559	2/5	PASS	ENST00000467132	Transcript	1	.	ENSG00000196136	16	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.059)	.	tolerated(0.26)	.	AACT_HUMAN	SERPINA3	HGNC	G3V5I3_HUMAN,G3V3A0_HUMAN	.	UPI000012509B	SNV	SERPINA3,missense_variant,p.Ala20Ser,ENST00000393078,;SERPINA3,missense_variant,p.Ala20Ser,ENST00000467132,;SERPINA3,missense_variant,p.Ala20Ser,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,missense_variant,p.Cys41Phe,ENST00000555820,;SERPINA3,missense_variant,p.Ala20Ser,ENST00000556968,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;	1206	50	40	SUCCESS
ASB7	140460	.	GRCh37	15	101169703	101169703	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	87	0	ENST00000332783.7:c.273T>C	p.His91=	p.H91=	ENST00000332783	NM_198243.2	91	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS10387.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCATGGCCG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123:SF13,hmmpanther:PTHR24123,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	.	.	ENSP00000328327	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000332783	Transcript	.	.	ENSG00000183475	17182	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB7_HUMAN	ASB7	HGNC	.	.	UPI00001B3F4D	SNV	ASB7,synonymous_variant,p.%3D,ENST00000332783,;ASB7,synonymous_variant,p.%3D,ENST00000343276,;ASB7,intron_variant,,ENST00000558747,;	1058	87	128	SUCCESS
MAGEL2	54551	.	GRCh37	15	23889515	23889515	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	35	76	0	ENST00000532292.1:c.1566C>A	p.Asn522Lys	p.N522K	ENST00000532292	NM_019066.4	522	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	.	1566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAGTTGCC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Asn522Lys,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	1661	76	132	SUCCESS
MAPKBP1	23005	.	GRCh37	15	42106909	42106909	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	23	103	0	ENST00000456763.2:c.1160A>G	p.Tyr387Cys	p.Y387C	ENST00000456763	NM_001128608.1	387	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45239.1	1160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTATCATT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847,PROSITE_profiles:PS50294	.	.	ENSP00000393099	.	11/32	.	.	.	.	.	.	.	.	.	11/32	PASS	ENST00000456763	Transcript	.	.	ENSG00000137802	29536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	MABP1_HUMAN	MAPKBP1	HGNC	D6R9F7_HUMAN	.	UPI00002375CB	SNV	MAPKBP1,missense_variant,p.Tyr269Cys,ENST00000260357,;MAPKBP1,missense_variant,p.Tyr381Cys,ENST00000457542,;MAPKBP1,missense_variant,p.Tyr387Cys,ENST00000456763,;MAPKBP1,missense_variant,p.Tyr381Cys,ENST00000514566,;MAPKBP1,intron_variant,,ENST00000221214,;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,intron_variant,,ENST00000512970,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;	1356	103	153	SUCCESS
USP8	9101	.	GRCh37	15	50757317	50757317	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	16	136	0	ENST00000307179.4:c.615A>T	p.Arg205=	p.R205=	ENST00000307179		205	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10137.1	615	MUTECT|MUSE|VARSCANS	.	GCTCGAAGAAT	NONE	.	.	Superfamily_domains:SSF52821,Pfam_domain:PF00581,Gene3D:3.40.250.10,hmmpanther:PTHR24006:SF350,hmmpanther:PTHR24006,PROSITE_profiles:PS50206	.	.	ENSP00000405537	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000433963	Transcript	1	.	ENSG00000138592	12631	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP8_HUMAN	USP8	HGNC	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN	.	UPI0000030306	SNV	USP8,synonymous_variant,p.%3D,ENST00000396444,;USP8,synonymous_variant,p.%3D,ENST00000433963,;USP8,synonymous_variant,p.%3D,ENST00000425032,;USP8,synonymous_variant,p.%3D,ENST00000307179,;RNA5SP395,downstream_gene_variant,,ENST00000516567,;USP8,non_coding_transcript_exon_variant,,ENST00000560527,;USP8,downstream_gene_variant,,ENST00000560885,;USP8,synonymous_variant,p.%3D,ENST00000559329,;USP8,3_prime_UTR_variant,,ENST00000561211,;USP8,3_prime_UTR_variant,,ENST00000560730,;USP8,intron_variant,,ENST00000561330,;USP8,downstream_gene_variant,,ENST00000559242,;RP11-562A8.1,upstream_gene_variant,,ENST00000495139,;	1115	136	180	SUCCESS
TRPM7	54822	.	GRCh37	15	50901794	50901794	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	235	85	214	0	ENST00000313478.7:c.2564A>T	p.Lys855Ile	p.K855I	ENST00000313478	NM_017672.4	855	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS42035.1	2564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATTTTACA	BUFFER|p.A851A|c.2553A>G|4	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	19/39	.	.	.	.	.	.	.	.	.	19/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,missense_variant,p.Lys855Ile,ENST00000560955,;TRPM7,missense_variant,p.Lys392Ile,ENST00000560638,;TRPM7,missense_variant,p.Lys855Ile,ENST00000313478,;	2846	214	321	SUCCESS
SNX1	6642	.	GRCh37	15	64422219	64422219	+	synonymous_variant	Silent	SNP	A	A	G	rs754465239	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	53	1	ENST00000559844.1:c.912A>G	p.Glu304=	p.E304=	ENST00000559844		304	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS58371.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAATCAGA	NONE	.	.	hmmpanther:PTHR10555:SF129,hmmpanther:PTHR10555,Pfam_domain:PF09325	.	.	ENSP00000261889	.	9/15	.	.	.	.	.	.	.	.	rs754465239	9/15	PASS	ENST00000261889	Transcript	.	.	ENSG00000028528	11172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX1_HUMAN	SNX1	HGNC	H0YKT3_HUMAN	.	UPI000217BDBB	SNV	SNX1,synonymous_variant,p.%3D,ENST00000559844,;SNX1,synonymous_variant,p.%3D,ENST00000560829,;SNX1,synonymous_variant,p.%3D,ENST00000353874,;SNX1,synonymous_variant,p.%3D,ENST00000261889,;SNX1,synonymous_variant,p.%3D,ENST00000561026,;SNX1,intron_variant,,ENST00000558040,;SNX1,downstream_gene_variant,,ENST00000559061,;SNX1,upstream_gene_variant,,ENST00000559339,;SNX1,3_prime_UTR_variant,,ENST00000380285,;SNX1,3_prime_UTR_variant,,ENST00000560260,;SNX1,downstream_gene_variant,,ENST00000559389,;SNX1,upstream_gene_variant,,ENST00000559401,;SNX1,upstream_gene_variant,,ENST00000559961,;	933	54	73	SUCCESS
SNUPN	10073	.	GRCh37	15	75890985	75890985	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	64	0	ENST00000308588.5:c.797A>G	p.Tyr266Cys	p.Y266C	ENST00000308588	NM_001042581.1	266	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10281.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTAGTGG	NONE	.	.	hmmpanther:PTHR13403,hmmpanther:PTHR13403:SF6,PIRSF_domain:PIRSF037955,Superfamily_domains:SSF56091	.	.	ENSP00000454852	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000564644	Transcript	.	.	ENSG00000169371	14245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPN1_HUMAN	SNUPN	HGNC	H3BTA6_HUMAN,H3BSK1_HUMAN,H3BRI5_HUMAN,H3BQR0_HUMAN	.	UPI0000031A89	SNV	SNUPN,missense_variant,p.Tyr308Cys,ENST00000371091,;SNUPN,missense_variant,p.Tyr266Cys,ENST00000564644,;SNUPN,missense_variant,p.Tyr266Cys,ENST00000567134,;SNUPN,missense_variant,p.Tyr266Cys,ENST00000308588,;SNUPN,missense_variant,p.Tyr266Cys,ENST00000564675,;SNUPN,downstream_gene_variant,,ENST00000568078,;CTD-2323K18.1,non_coding_transcript_exon_variant,,ENST00000565138,;CTD-2323K18.1,non_coding_transcript_exon_variant,,ENST00000568707,;CTD-2323K18.1,non_coding_transcript_exon_variant,,ENST00000566032,;CTD-2323K18.1,non_coding_transcript_exon_variant,,ENST00000567875,;SNUPN,non_coding_transcript_exon_variant,,ENST00000567437,;	1376	64	66	SUCCESS
NTRK3	4916	.	GRCh37	15	88678352	88678352	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	40	135	0	ENST00000360948.2:c.1184T>A	p.Phe395Tyr	p.F395Y	ENST00000360948	NM_001012338.2	395	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS32322.1	1184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGAAGTGG	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416	.	.	ENSP00000354207	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.Phe395Tyr,ENST00000317501,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000558676,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000557856,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000540489,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000357724,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000394480,;NTRK3,missense_variant,p.Phe297Tyr,ENST00000542733,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000355254,;NTRK3,missense_variant,p.Phe395Tyr,ENST00000360948,;NTRK3,intron_variant,,ENST00000560017,;NTRK3,downstream_gene_variant,,ENST00000559188,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559764,;	1346	135	148	SUCCESS
RCCD1	91433	.	GRCh37	15	91500546	91500546	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1260321168	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	70	0	ENST00000394258.2:c.370G>C	p.Asp124His	p.D124H	ENST00000394258	NM_033544.2	124	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS32333.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACGATCCG	NONE	.	.	Gene3D:2.130.10.30,hmmpanther:PTHR22870:SF153,hmmpanther:PTHR22870,Low_complexity_(Seg):seg	.	.	ENSP00000377801	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000394258	Transcript	.	.	ENSG00000166965	30457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated(0.13)	.	RCCD1_HUMAN	RCCD1	HGNC	.	.	UPI00001FEBD4	SNV	RCCD1,missense_variant,p.Asp124His,ENST00000555155,;RCCD1,missense_variant,p.Asp124His,ENST00000394258,;RCCD1,missense_variant,p.Asp124His,ENST00000556618,;UNC45A,downstream_gene_variant,,ENST00000418476,;UNC45A,downstream_gene_variant,,ENST00000394275,;AC068831.6,upstream_gene_variant,,ENST00000553321,;RCCD1,intron_variant,,ENST00000556774,;RCCD1,non_coding_transcript_exon_variant,,ENST00000557266,;RCCD1,non_coding_transcript_exon_variant,,ENST00000555737,;RCCD1,intron_variant,,ENST00000556333,;RCCD1,upstream_gene_variant,,ENST00000557750,;UNC45A,downstream_gene_variant,,ENST00000471780,;RCCD1,downstream_gene_variant,,ENST00000554302,;UNC45A,downstream_gene_variant,,ENST00000487875,;	572	70	57	SUCCESS
TNRC6A	27327	.	GRCh37	16	24818081	24818081	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	33	131	0	ENST00000395799.3:c.4516A>G	p.Asn1506Asp	p.N1506D	ENST00000395799	NM_014494.2	1506	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS10624.2	4516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATAAATGCT	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0.02)	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,missense_variant,p.Asn1506Asp,ENST00000395799,;TNRC6A,missense_variant,p.Asn1457Asp,ENST00000315183,;TNRC6A,missense_variant,p.Asn450Asp,ENST00000450465,;TNRC6A,downstream_gene_variant,,ENST00000568750,;TNRC6A,upstream_gene_variant,,ENST00000432286,;CTD-2515A14.1,intron_variant,,ENST00000568895,;TNRC6A,missense_variant,p.Asn15Asp,ENST00000569376,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000462400,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000563201,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000477487,;TNRC6A,downstream_gene_variant,,ENST00000561726,;	4645	131	123	SUCCESS
C16orf82	162083	.	GRCh37	16	27078365	27078365	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	72	0	ENST00000505035.1:n.338G>A		p.*113*	ENST00000505035				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGGGAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000505035	Transcript	.	.	ENSG00000234186	30755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C16orf82	HGNC	.	.	.	SNV	C16orf82,non_coding_transcript_exon_variant,,ENST00000505035,;C16orf82,non_coding_transcript_exon_variant,,ENST00000418886,;RP11-673P17.2,intron_variant,,ENST00000565783,;	338	72	82	SUCCESS
ZNF668	79759	.	GRCh37	16	31072498	31072498	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	18	94	0	ENST00000394983.2:c.1751C>G	p.Ala584Gly	p.A584G	ENST00000394983		584	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS54003.1	1820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGCACTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF15,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000442573	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000539836	Transcript	.	.	ENSG00000167394	25821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0.05)	.	.	ZNF668	HGNC	C9JHH8_HUMAN,C9JG35_HUMAN,C9JCJ0_HUMAN	.	UPI00001FFF53	SNV	ZNF668,missense_variant,p.Ala607Gly,ENST00000426488,;ZNF668,missense_variant,p.Ala584Gly,ENST00000300849,;ZNF668,missense_variant,p.Ala584Gly,ENST00000538906,;ZNF668,missense_variant,p.Ala607Gly,ENST00000539836,;ZNF668,missense_variant,p.Ala584Gly,ENST00000535577,;ZNF668,missense_variant,p.Ala584Gly,ENST00000394983,;ZNF668,downstream_gene_variant,,ENST00000417935,;ZNF668,downstream_gene_variant,,ENST00000414399,;ZNF668,downstream_gene_variant,,ENST00000442862,;ZNF668,upstream_gene_variant,,ENST00000417110,;AC135050.5,upstream_gene_variant,,ENST00000568708,;ZNF668,downstream_gene_variant,,ENST00000564456,;	2143	94	86	SUCCESS
AXIN1	8312	.	GRCh37	16	396667	396667	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	58	0	ENST00000262320.3:c.359C>A	p.Ala120Asp	p.A120D	ENST00000262320	NM_003502.3	120	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS10405.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCAAAC	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,missense_variant,p.Ala120Asp,ENST00000262320,;AXIN1,missense_variant,p.Ala120Asp,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;	731	58	35	SUCCESS
GPT2	84706	.	GRCh37	16	46960942	46960942	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1266813336	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	50	0	ENST00000340124.4:c.1474C>T	p.His492Tyr	p.H492Y	ENST00000340124	NM_133443.2	492	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10725.1	1474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCACTTC	NONE	.	.	hmmpanther:PTHR11751:SF311,hmmpanther:PTHR11751,Gene3D:3.90.1150.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383	.	.	ENSP00000345282	.	11/12	.	.	.	.	.	.	.	.	COSM189310	11/12	PASS	ENST00000340124	Transcript	.	.	ENSG00000166123	18062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0.02)	1	ALAT2_HUMAN	GPT2	HGNC	B3KR40_HUMAN	.	UPI000004DBE2	SNV	GPT2,missense_variant,p.His492Tyr,ENST00000340124,;GPT2,missense_variant,p.His392Tyr,ENST00000440783,;GPT2,non_coding_transcript_exon_variant,,ENST00000569193,;GPT2,non_coding_transcript_exon_variant,,ENST00000562801,;	1586	50	69	SUCCESS
CHD9	80205	.	GRCh37	16	53265378	53265378	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	91	243	0	ENST00000398510.3:c.2334A>G	p.Val778=	p.V778=	ENST00000398510		778	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS45485.1	2334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTATTAGA	NONE	.	.	Superfamily_domains:SSF54160,SMART_domains:SM00298,Pfam_domain:PF00385,Gene3D:2.40.50.40,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48,PROSITE_profiles:PS50013	.	.	ENSP00000457466	.	9/39	.	.	.	.	.	.	.	.	COSM1578323	9/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,synonymous_variant,p.%3D,ENST00000566029,;CHD9,synonymous_variant,p.%3D,ENST00000565803,;CHD9,synonymous_variant,p.%3D,ENST00000447540,;CHD9,synonymous_variant,p.%3D,ENST00000564845,;CHD9,synonymous_variant,p.%3D,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,;CHD9,upstream_gene_variant,,ENST00000219084,;CHD9,upstream_gene_variant,,ENST00000569225,;	2543	243	281	SUCCESS
E2F4	1874	.	GRCh37	16	67226146	67226146	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs995060206	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	13	0	ENST00000379378.3:c.16C>T	p.Pro6Ser	p.P6S	ENST00000379378	NM_001950.3	6	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32464.1	16	MUTECT|MUSE	.	CCGGGCCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF42	.	.	ENSP00000368686	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000379378	Transcript	.	.	ENSG00000205250	3118	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	tolerated_low_confidence(0.68)	.	E2F4_HUMAN	E2F4	HGNC	.	.	UPI000002EFCB	SNV	E2F4,missense_variant,p.Pro6Ser,ENST00000379378,;EXOC3L1,upstream_gene_variant,,ENST00000545725,;EXOC3L1,upstream_gene_variant,,ENST00000563889,;E2F4,upstream_gene_variant,,ENST00000565226,;EXOC3L1,upstream_gene_variant,,ENST00000564418,;EXOC3L1,upstream_gene_variant,,ENST00000314586,;EXOC3L1,upstream_gene_variant,,ENST00000562887,;E2F4,upstream_gene_variant,,ENST00000564718,;E2F4,missense_variant,p.Pro6Ser,ENST00000568839,;E2F4,missense_variant,p.Pro6Ser,ENST00000565849,;E2F4,missense_variant,p.Pro6Ser,ENST00000569573,;E2F4,non_coding_transcript_exon_variant,,ENST00000561904,;E2F4,non_coding_transcript_exon_variant,,ENST00000563238,;E2F4,non_coding_transcript_exon_variant,,ENST00000568485,;E2F4,non_coding_transcript_exon_variant,,ENST00000567007,;E2F4,upstream_gene_variant,,ENST00000566368,;EXOC3L1,upstream_gene_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000568693,;E2F4,upstream_gene_variant,,ENST00000567228,;	75	13	12	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77353794	77353794	+	synonymous_variant	Silent	SNP	C	C	T	rs144947524	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	93	0	ENST00000282849.5:c.2484G>A	p.Pro828=	p.P828=	ENST00000282849	NM_199355.2	828	ccG/ccA	0	T:0	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS10926.1	2484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCCGGGCG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167,Pfam_domain:PF05986	T:0	T:0.0007	ENSP00000282849	T:0.001	16/23	.	.	.	.	.	.	.	.	rs144947524,COSM1244330	16/23	common_in_exac	ENST00000282849	Transcript	.	T:0.0014	ENSG00000140873	17110	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.0061	.	0,1	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,synonymous_variant,p.%3D,ENST00000282849,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000568393,;	2903	93	92	SUCCESS
SLC38A8	146167	.	GRCh37	16	84075664	84075664	+	synonymous_variant	Silent	SNP	G	G	A	rs766376941	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	55	0	ENST00000299709.3:c.99C>T	p.Leu33=	p.L33=	ENST00000299709	NM_001080442.1	33	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32495.1	99	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGAGGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF226,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000299709	.	1/10	.	.	.	.	.	.	.	.	rs766376941	1/10	PASS	ENST00000299709	Transcript	.	.	ENSG00000166558	32434	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S38A8_HUMAN	SLC38A8	HGNC	H3BUP5_HUMAN,H3BP02_HUMAN	.	UPI0000D61A1F	SNV	SLC38A8,synonymous_variant,p.%3D,ENST00000299709,;SLC38A8,synonymous_variant,p.%3D,ENST00000568178,;SLC38A8,upstream_gene_variant,,ENST00000569816,;RNA5SP432,upstream_gene_variant,,ENST00000362480,;	99	55	50	SUCCESS
ZCCHC14	23174	.	GRCh37	16	87445967	87445967	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	95	0	ENST00000268616.4:c.1949C>T	p.Ala650Val	p.A650V	ENST00000268616	NM_015144.2	650	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10961.1	1949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGCAGAA	NONE	.	.	hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195	.	.	ENSP00000268616	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000268616	Transcript	.	.	ENSG00000140948	24134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious_low_confidence(0.04)	.	ZCH14_HUMAN	ZCCHC14	HGNC	.	.	UPI00000705C4	SNV	ZCCHC14,missense_variant,p.Ala650Val,ENST00000268616,;ZCCHC14,missense_variant,p.Ala534Val,ENST00000561928,;ZCCHC14,missense_variant,p.Ala650Val,ENST00000568020,;ZCCHC14,downstream_gene_variant,,ENST00000565193,;	2167	95	83	SUCCESS
DNAH9	1770	.	GRCh37	17	11778398	11778398	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1287523530	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	77	0	ENST00000262442.4:c.10375T>A	p.Cys3459Ser	p.C3459S	ENST00000262442	NM_001372.3	3459	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS11160.1	10375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTGTGAG	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000262442	.	53/69	.	.	.	.	.	.	.	.	.	53/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Cys3459Ser,ENST00000454412,;DNAH9,missense_variant,p.Cys210Ser,ENST00000579703,;DNAH9,missense_variant,p.Cys3459Ser,ENST00000262442,;RP11-628O18.1,non_coding_transcript_exon_variant,,ENST00000579621,;DNAH9,non_coding_transcript_exon_variant,,ENST00000580255,;	10443	77	50	SUCCESS
SSH2	85464	.	GRCh37	17	27958047	27958047	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1379836440	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	79	0	ENST00000269033.3:c.4084G>A	p.Gly1362Arg	p.G1362R	ENST00000269033	NM_033389.2	1362	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS11253.1	4084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCCTGCCC	NONE	.	.	hmmpanther:PTHR10159:SF106,hmmpanther:PTHR10159	.	.	ENSP00000269033	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000269033	Transcript	.	.	ENSG00000141298	30580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.09)	.	SSH2_HUMAN	SSH2	HGNC	J3KSQ9_HUMAN	.	UPI00001D6272	SNV	SSH2,missense_variant,p.Gly1362Arg,ENST00000269033,;SSH2,missense_variant,p.Gly1389Arg,ENST00000540801,;SSH2,intron_variant,,ENST00000577991,;RP11-68I3.2,intron_variant,,ENST00000581474,;	4236	79	106	SUCCESS
SLFN11	91607	.	GRCh37	17	33679955	33679955	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777668696	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	90	0	ENST00000308377.4:c.2126A>G	p.His709Arg	p.H709R	ENST00000308377	NM_152270.3	709	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS11294.1	2126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTGGCTG	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	7/7	.	.	.	.	.	.	.	.	rs777668696	7/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,missense_variant,p.His709Arg,ENST00000394566,;SLFN11,missense_variant,p.His709Arg,ENST00000308377,;SLFN11,intron_variant,,ENST00000592108,;	2399	90	98	SUCCESS
CCL16	6360	.	GRCh37	17	34304751	34304751	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	61	118	0	ENST00000293275.3:c.214A>C	p.Asn72His	p.N72H	ENST00000293275	NM_004590.2	72	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS11303.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTTCCTCT	NONE	.	.	hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF21,PROSITE_patterns:PS00472,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117	.	.	ENSP00000293275	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000293275	Transcript	.	.	ENSG00000161573	10614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.07)	.	CCL16_HUMAN	CCL16	HGNC	.	.	UPI00001362D8	SNV	CCL16,missense_variant,p.Asn72His,ENST00000293275,;CCL16,missense_variant,p.Asn47His,ENST00000483259,;CCL16,3_prime_UTR_variant,,ENST00000586567,;	290	118	136	SUCCESS
G6PC	0	.	GRCh37	17	41059553	41059553	+	synonymous_variant	Silent	SNP	C	C	G	rs766771010	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	62	0	ENST00000253801.2:c.354C>G	p.Gly118=	p.G118=	ENST00000253801	NM_000151.3	118	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS11446.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCCATGC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF48317,SMART_domains:SM00014,PIRSF_domain:PIRSF000905,Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR12591:SF3,hmmpanther:PTHR12591	.	.	ENSP00000253801	.	3/5	.	.	.	.	.	.	.	.	rs766771010	3/5	PASS	ENST00000253801	Transcript	.	.	ENSG00000131482	4056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	G6PC_HUMAN	G6PC	HGNC	.	.	UPI000013CDF5	SNV	G6PC,synonymous_variant,p.%3D,ENST00000585489,;G6PC,synonymous_variant,p.%3D,ENST00000253801,;G6PC,intron_variant,,ENST00000592383,;G6PC,downstream_gene_variant,,ENST00000588481,;	433	62	77	SUCCESS
FMNL1	752	.	GRCh37	17	43318781	43318781	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	52	0	ENST00000331495.3:c.1365C>A	p.Pro455=	p.P455=	ENST00000331495	NM_005892.3	455	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11497.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCTCCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188	.	.	ENSP00000329219	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000331495	Transcript	.	.	ENSG00000184922	1212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMNL_HUMAN	FMNL1	HGNC	.	.	UPI0000246EE9	SNV	FMNL1,synonymous_variant,p.%3D,ENST00000587489,;FMNL1,synonymous_variant,p.%3D,ENST00000331495,;FMNL1,synonymous_variant,p.%3D,ENST00000328118,;FMNL1,upstream_gene_variant,,ENST00000586092,;FMNL1,upstream_gene_variant,,ENST00000589911,;FMNL1,upstream_gene_variant,,ENST00000586643,;CTD-2020K17.3,non_coding_transcript_exon_variant,,ENST00000587534,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;CTD-2020K17.4,downstream_gene_variant,,ENST00000420431,;FMNL1,downstream_gene_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;FMNL1,downstream_gene_variant,,ENST00000591434,;	1701	52	79	SUCCESS
CDC27	996	.	GRCh37	17	45258985	45258985	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	78	1	ENST00000066544.3:c.46C>G	p.Leu16Val	p.L16V	ENST00000066544	NM_001256.3	16	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS45720.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAGTGCTT	NONE	.	.	hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF11	.	.	ENSP00000434614	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000531206	Transcript	.	.	ENSG00000004897	1728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CDC27_HUMAN	CDC27	HGNC	I0EZ72_HUMAN,I0EZ68_HUMAN	.	UPI0000E59FE6	SNV	CDC27,missense_variant,p.Leu16Val,ENST00000066544,;CDC27,missense_variant,p.Leu16Val,ENST00000527547,;CDC27,missense_variant,p.Leu16Val,ENST00000575483,;CDC27,missense_variant,p.Leu16Val,ENST00000531206,;CDC27,missense_variant,p.Thr4Ser,ENST00000446365,;CDC27,non_coding_transcript_exon_variant,,ENST00000528748,;CDC27,non_coding_transcript_exon_variant,,ENST00000532575,;CDC27,missense_variant,p.Leu16Val,ENST00000526866,;CDC27,missense_variant,p.Leu16Val,ENST00000533415,;CDC27,missense_variant,p.Leu16Val,ENST00000532893,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,non_coding_transcript_exon_variant,,ENST00000528147,;CDC27,upstream_gene_variant,,ENST00000573550,;	50	79	103	SUCCESS
SNX11	29916	.	GRCh37	17	46196470	46196470	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	60	1	ENST00000359238.2:c.461A>G	p.Tyr154Cys	p.Y154C	ENST00000359238	NM_013323.2	154	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11526.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGATATGCTA	NONE	.	.	hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF36	.	.	ENSP00000377059	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000393405	Transcript	.	.	ENSG00000002919	14975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	SNX11_HUMAN	SNX11	HGNC	J3QRB9_HUMAN,J3QLV8_HUMAN,J3KTN6_HUMAN,B4DJI7_HUMAN	.	UPI000003E7DA	SNV	SNX11,missense_variant,p.Tyr154Cys,ENST00000393405,;SNX11,missense_variant,p.Tyr146Cys,ENST00000582104,;SNX11,missense_variant,p.Tyr93Cys,ENST00000439357,;SNX11,missense_variant,p.Tyr154Cys,ENST00000582481,;SNX11,missense_variant,p.Tyr154Cys,ENST00000581298,;SNX11,missense_variant,p.Tyr10Cys,ENST00000452859,;SNX11,missense_variant,p.Tyr154Cys,ENST00000584335,;SNX11,missense_variant,p.Tyr154Cys,ENST00000359238,;SNX11,missense_variant,p.Tyr146Cys,ENST00000580219,;SNX11,downstream_gene_variant,,ENST00000578861,;SNX11,3_prime_UTR_variant,,ENST00000581705,;SNX11,3_prime_UTR_variant,,ENST00000583320,;	815	61	80	SUCCESS
TRIM37	4591	.	GRCh37	17	57089748	57089748	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	36	0	ENST00000262294.7:c.2636C>A	p.Ser879Tyr	p.S879Y	ENST00000262294	NM_015294.3	879	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS32694.1	2636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGAATTA	NONE	.	.	hmmpanther:PTHR24103:SF229,hmmpanther:PTHR24103	.	.	ENSP00000262294	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000262294	Transcript	.	.	ENSG00000108395	7523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	deleterious_low_confidence(0)	.	TRI37_HUMAN	TRIM37	HGNC	B3KMU3_HUMAN,A8K0V9_HUMAN	.	UPI0000167B57	SNV	TRIM37,missense_variant,p.Ser8Tyr,ENST00000583945,;TRIM37,missense_variant,p.Ser845Tyr,ENST00000393065,;TRIM37,missense_variant,p.Ser879Tyr,ENST00000393066,;TRIM37,missense_variant,p.Ser757Tyr,ENST00000376149,;TRIM37,missense_variant,p.Ser23Tyr,ENST00000585287,;TRIM37,missense_variant,p.Ser879Tyr,ENST00000262294,;TRIM37,3_prime_UTR_variant,,ENST00000577554,;	2896	36	40	SUCCESS
HEATR6	63897	.	GRCh37	17	58134607	58134613	+	frameshift_variant	Frame_Shift_Del	DEL	CCACCAA	CCACCAA	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	CCACCAA	CCACCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	100	0	ENST00000184956.6:c.1875_1881del	p.Asp625GlufsTer69	p.D625Efs*69	ENST00000184956	NM_022070.4	625	gaTTGGTGG/ga	0	.	.	.	.	.	-	DWW/X	protein_coding	YES	CCDS11623.1	1875-1881	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTTCCACCAATCAGG	NONE	.	.	hmmpanther:PTHR13366	.	.	ENSP00000184956	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000184956	Transcript	.	.	ENSG00000068097	24076	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEAT6_HUMAN	HEATR6	HGNC	K7ELR8_HUMAN	.	UPI0000366C37	deletion	HEATR6,frameshift_variant,p.Asp625GlufsTer84,ENST00000585976,;HEATR6,frameshift_variant,p.Asp625GlufsTer69,ENST00000184956,;HEATR6,3_prime_UTR_variant,,ENST00000587003,;HEATR6,upstream_gene_variant,,ENST00000591683,;	1892-1898	100	109	SUCCESS
TANC2	26115	.	GRCh37	17	61476200	61476200	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	108	0	ENST00000424789.2:c.3034G>C	p.Asp1012His	p.D1012H	ENST00000424789	NM_025185.3	1012	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS45754.1	3034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTGATCTT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000387593	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	deleterious(0)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Asp1012His,ENST00000389520,;TANC2,missense_variant,p.Asp1012His,ENST00000424789,;TANC2,missense_variant,p.Asp941His,ENST00000583356,;TANC2,missense_variant,p.Asp69His,ENST00000583016,;AC015923.1,intron_variant,,ENST00000431604,;RP11-269G24.3,intron_variant,,ENST00000583552,;TANC2,downstream_gene_variant,,ENST00000581143,;	3038	108	126	SUCCESS
BPTF	2186	.	GRCh37	17	65871691	65871691	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	57	0	ENST00000321892.4:c.1884T>G	p.Asp628Glu	p.D628E	ENST00000321892		628	gaT/gaG	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11673.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGATAAAGG	NONE	.	.	.	.	.	ENSP00000307208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODIFIER	4/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Asp628Glu,ENST00000321892,;BPTF,missense_variant,p.Asp628Glu,ENST00000544778,;BPTF,missense_variant,p.Asp628Glu,ENST00000335221,;BPTF,missense_variant,p.Asp489Glu,ENST00000424123,;BPTF,intron_variant,,ENST00000306378,;BPTF,intron_variant,,ENST00000544491,;	.	57	84	SUCCESS
ABCA6	23460	.	GRCh37	17	67107063	67107063	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	50	1	ENST00000284425.2:c.2151A>G	p.Ile717Met	p.I717M	ENST00000284425	NM_080284.2	717	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS11683.1	2151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACATATTTC	NONE	.	.	hmmpanther:PTHR19229:SF13,hmmpanther:PTHR19229	.	.	ENSP00000284425	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000284425	Transcript	.	.	ENSG00000154262	36	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(1)	.	ABCA6_HUMAN	ABCA6	HGNC	.	.	UPI000013DD9D	SNV	ABCA6,missense_variant,p.Ile717Met,ENST00000284425,;ABCA6,downstream_gene_variant,,ENST00000592493,;ABCA6,non_coding_transcript_exon_variant,,ENST00000589803,;ABCA6,non_coding_transcript_exon_variant,,ENST00000590311,;	2326	51	81	SUCCESS
TP53	7157	.	GRCh37	17	7578265	7578265	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs760043106	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	56	137	0	ENST00000269305.4:c.584T>G	p.Ile195Ser	p.I195S	ENST00000269305	NM_001126112.2	195	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS11118.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGATAAGA	SITE|p.I63S|c.188T>G|3,SITE|p.I195S|c.584T>G|7,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.R196*|c.585_586CC>TT|7,CODON|p.I102N|c.305T>A|10,CODON|p.I102T|c.305T>C|21,CODON|p.I195N|c.584T>A|10,CODON|p.I195T|c.584T>C|88,CODON|p.I195N|c.584T>A|4,CODON|p.I195T|c.584T>C|21,CODON|p.I63N|c.188T>A|10,CODON|p.I195T|c.584T>C|12,CODON|p.I63T|c.188T>C|21,CODON|p.I195T|c.584T>C|21,CODON|p.I195N|c.584T>A|10,CODON|p.I195N|c.584T>A|23,CODON|p.I195T|c.584T>C|10,CODON|p.I195N|c.584T>A|10,BUFFER|p.G199*|c.595G>T|5,BUFFER|p.G199R|c.595G>A|9,BUFFER|p.E198*|c.592G>T|5,BUFFER|p.E198K|c.592G>A|5,BUFFER|p.E198*|c.592G>T|4,BUFFER|p.E105*|c.313G>T|9,BUFFER|p.E198*|c.592G>T|27,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.E66*|c.196G>T|9,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.V197G|c.590T>G|15,BUFFER|p.V197E|c.590T>A|8,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	rs760043106,CM092575,TP53_g.12653T>G,TP53_g.12653T>C,TP53_g.12653T>A,COSM44877,COSM44539,COSM11089,COSM1738250,COSM116924,COSM212745,COSM116921,COSM1738252,COSM212744,COSM1738254,COSM116922,COSM212746,COSM3421936,COSM3403267,COSM1738251,COSM1645297,COSM1738253,COSM212747,COSM116923	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ile195Ser,ENST00000413465,;TP53,missense_variant,p.Ile195Ser,ENST00000420246,;TP53,missense_variant,p.Ile195Ser,ENST00000269305,;TP53,missense_variant,p.Ile63Ser,ENST00000509690,;TP53,missense_variant,p.Ile195Ser,ENST00000359597,;TP53,missense_variant,p.Ile102Ser,ENST00000514944,;TP53,missense_variant,p.Ile195Ser,ENST00000445888,;TP53,missense_variant,p.Ile195Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	774	137	110	SUCCESS
LGALS3BP	3959	.	GRCh37	17	76968304	76968304	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	67	0	ENST00000262776.3:c.1112C>T	p.Ala371Val	p.A371V	ENST00000262776	NM_005567.3	371	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11759.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGCCTCG	NONE	.	.	.	.	.	ENSP00000262776	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262776	Transcript	.	.	ENSG00000108679	6564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.04)	.	LG3BP_HUMAN	LGALS3BP	HGNC	K7ESM3_HUMAN,K7ES75_HUMAN,K7EP36_HUMAN,K7EKQ5_HUMAN,B4DVE1_HUMAN	.	UPI000006E64A	SNV	LGALS3BP,missense_variant,p.Ala371Val,ENST00000262776,;LGALS3BP,3_prime_UTR_variant,,ENST00000591778,;LGALS3BP,downstream_gene_variant,,ENST00000589906,;LGALS3BP,downstream_gene_variant,,ENST00000585407,;LGALS3BP,downstream_gene_variant,,ENST00000589775,;LGALS3BP,downstream_gene_variant,,ENST00000591274,;LGALS3BP,downstream_gene_variant,,ENST00000589527,;LGALS3BP,3_prime_UTR_variant,,ENST00000587311,;LGALS3BP,3_prime_UTR_variant,,ENST00000587251,;LGALS3BP,3_prime_UTR_variant,,ENST00000586720,;LGALS3BP,downstream_gene_variant,,ENST00000588205,;LGALS3BP,downstream_gene_variant,,ENST00000586300,;LGALS3BP,downstream_gene_variant,,ENST00000588899,;LGALS3BP,downstream_gene_variant,,ENST00000588508,;LGALS3BP,downstream_gene_variant,,ENST00000592255,;LGALS3BP,downstream_gene_variant,,ENST00000588198,;LGALS3BP,downstream_gene_variant,,ENST00000587310,;LGALS3BP,downstream_gene_variant,,ENST00000588990,;LGALS3BP,downstream_gene_variant,,ENST00000588587,;	1421	67	97	SUCCESS
SGSH	6448	.	GRCh37	17	78184755	78184755	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	705	257	814	0	ENST00000326317.6:c.1005C>A	p.Ile335=	p.I335=	ENST00000326317	NM_000199.3	335	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11770.1	1005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAGATGGC	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF76,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000314606	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000326317	Transcript	.	.	ENSG00000181523	10818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPHM_HUMAN	SGSH	HGNC	I3L4B7_HUMAN,F5H6A3_HUMAN	.	UPI000000DBD0	SNV	SGSH,synonymous_variant,p.%3D,ENST00000326317,;SGSH,synonymous_variant,p.%3D,ENST00000534910,;SGSH,3_prime_UTR_variant,,ENST00000576856,;SGSH,intron_variant,,ENST00000572257,;SGSH,downstream_gene_variant,,ENST00000576707,;SGSH,downstream_gene_variant,,ENST00000570427,;SGSH,downstream_gene_variant,,ENST00000570923,;CARD14,downstream_gene_variant,,ENST00000573882,;CARD14,downstream_gene_variant,,ENST00000344227,;SGSH,upstream_gene_variant,,ENST00000571156,;SGSH,downstream_gene_variant,,ENST00000572208,;SGSH,upstream_gene_variant,,ENST00000575484,;SGSH,3_prime_UTR_variant,,ENST00000573150,;SGSH,non_coding_transcript_exon_variant,,ENST00000575282,;SGSH,downstream_gene_variant,,ENST00000571051,;SGSH,downstream_gene_variant,,ENST00000576941,;SGSH,downstream_gene_variant,,ENST00000575188,;SGSH,downstream_gene_variant,,ENST00000571675,;CARD14,downstream_gene_variant,,ENST00000575500,;SGSH,downstream_gene_variant,,ENST00000574505,;	1092	814	962	SUCCESS
ALOX12B	242	.	GRCh37	17	7984083	7984083	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	60	0	ENST00000319144.4:c.543T>G	p.Ile181Met	p.I181M	ENST00000319144	NM_001139.2	181	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS11129.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGAATATA	NONE	.	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Superfamily_domains:SSF48484	.	.	ENSP00000315167	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000319144	Transcript	.	.	ENSG00000179477	430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.2)	.	LX12B_HUMAN	ALOX12B	HGNC	.	.	UPI000000D996	SNV	ALOX12B,missense_variant,p.Ile181Met,ENST00000319144,;AC129492.6,3_prime_UTR_variant,,ENST00000399413,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000584116,;ALOX12B,upstream_gene_variant,,ENST00000583276,;	804	60	58	SUCCESS
PIEZO2	63895	.	GRCh37	18	10691266	10691266	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	54	109	0	ENST00000503781.3:c.6967C>T	p.Leu2323Phe	p.L2323F	ENST00000503781	NM_022068.2	2323	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	.	6967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGAGGAAGT	NONE	.	.	hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24	.	.	ENSP00000421377	.	44/52	.	.	.	.	.	.	.	.	.	44/52	PASS	ENST00000503781	Transcript	.	.	ENSG00000154864	26270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	deleterious(0)	.	PIEZ2_HUMAN	PIEZO2	HGNC	J3KSM7_HUMAN	.	UPI0001B3CB29	SNV	PIEZO2,missense_variant,p.Leu178Phe,ENST00000285141,;PIEZO2,missense_variant,p.Leu2348Phe,ENST00000580640,;PIEZO2,missense_variant,p.Leu2323Phe,ENST00000503781,;PIEZO2,missense_variant,p.Leu280Phe,ENST00000538948,;PIEZO2,missense_variant,p.Leu2323Phe,ENST00000302079,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	6967	109	149	SUCCESS
CHMP1B	57132	.	GRCh37	18	11852040	11852040	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	52	0	ENST00000526991.2:c.530G>C	p.Gly177Ala	p.G177A	ENST00000526991	NM_020412.4	177	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS54180.1	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGCACGA	NONE	.	.	hmmpanther:PTHR10476:SF2,hmmpanther:PTHR10476	.	.	ENSP00000432279	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526991	Transcript	.	.	ENSG00000255112	24287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.47)	.	CHM1B_HUMAN	CHMP1B	HGNC	B2RA72_HUMAN	.	UPI00000373BD	SNV	CHMP1B,missense_variant,p.Gly177Ala,ENST00000526991,;GNAL,intron_variant,,ENST00000535121,;GNAL,intron_variant,,ENST00000585642,;GNAL,intron_variant,,ENST00000334049,;GNAL,intron_variant,,ENST00000269162,;GNAL,intron_variant,,ENST00000423027,;GNAL,intron_variant,,ENST00000590228,;RP11-78A19.3,intron_variant,,ENST00000586474,;CHMP1B,upstream_gene_variant,,ENST00000588284,;	646	52	48	SUCCESS
LPIN2	9663	.	GRCh37	18	2926805	2926805	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	27	0	ENST00000261596.4:c.1711-2A>T		p.X571_splice	ENST00000261596	NM_014646.2	571		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11829.1	.	RADIA|MUTECT|MUSE	.	GCAGCTGTAAC	NONE	.	.	.	.	.	ENSP00000261596	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261596	Transcript	.	.	ENSG00000101577	14450	.	.	HIGH	12/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,splice_acceptor_variant,,ENST00000261596,;	.	27	31	SUCCESS
ZNF271	0	.	GRCh37	18	32886748	32886748	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	29	78	0	ENST00000399070.3:n.1142A>G		p.*381*	ENST00000399070				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTATAAAT	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399070	Transcript	.	.	ENSG00000257267	13065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF271	HGNC	.	.	.	SNV	ZNF271,non_coding_transcript_exon_variant,,ENST00000399070,;ZNF271,non_coding_transcript_exon_variant,,ENST00000465539,;ZNF271,non_coding_transcript_exon_variant,,ENST00000540308,;	1142	78	107	SUCCESS
LOXHD1	125336	.	GRCh37	18	44085896	44085896	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	85	0	ENST00000300591.6:c.2450A>G	p.Asn817Ser	p.N817S	ENST00000300591	NM_001145472.2	817	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45861.1	2450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTTCCAG	NONE	.	.	PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723	.	.	ENSP00000300591	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.07)	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,missense_variant,p.Asn755Ser,ENST00000582408,;LOXHD1,missense_variant,p.Asn817Ser,ENST00000300591,;LOXHD1,missense_variant,p.Asn1722Ser,ENST00000441551,;LOXHD1,missense_variant,p.Asn167Ser,ENST00000398705,;LOXHD1,missense_variant,p.Asn799Ser,ENST00000441893,;LOXHD1,missense_variant,p.Asn167Ser,ENST00000414184,;LOXHD1,missense_variant,p.Asn721Ser,ENST00000579038,;LOXHD1,missense_variant,p.Asn1866Ser,ENST00000536736,;LOXHD1,missense_variant,p.Asn1650Ser,ENST00000398722,;LOXHD1,missense_variant,p.Asn167Ser,ENST00000398686,;LOXHD1,downstream_gene_variant,,ENST00000452425,;LOXHD1,downstream_gene_variant,,ENST00000335730,;	2864	85	84	SUCCESS
TCF4	6925	.	GRCh37	18	53128331	53128331	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs567398278	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	31	81	0	ENST00000356073.4:c.223A>G	p.Thr75Ala	p.T75A	ENST00000356073	NM_003199.2	75	Act/Gct	0	.	C:0	.	C:0	.	C	T/A	protein_coding	YES	CCDS58631.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_benign	GGGAGTCCCAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10	C:0	.	ENSP00000381382	C:0	6/21	.	.	.	.	.	.	.	.	rs567398278	6/21	PASS	ENST00000398339	Transcript	.	C:0.0002	ENSG00000196628	11634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	C:0.001	tolerated(0.7)	.	.	TCF4	HGNC	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN,E9PH57_HUMAN	.	UPI000059D58C	SNV	TCF4,missense_variant,p.Thr51Ala,ENST00000568740,;TCF4,missense_variant,p.Thr75Ala,ENST00000565018,;TCF4,missense_variant,p.Thr75Ala,ENST00000566279,;TCF4,missense_variant,p.Thr51Ala,ENST00000568673,;TCF4,missense_variant,p.Thr51Ala,ENST00000537578,;TCF4,missense_variant,p.Thr177Ala,ENST00000398339,;TCF4,missense_variant,p.Thr75Ala,ENST00000564403,;TCF4,missense_variant,p.Thr51Ala,ENST00000563824,;TCF4,missense_variant,p.Thr33Ala,ENST00000543082,;TCF4,missense_variant,p.Thr73Ala,ENST00000566286,;TCF4,missense_variant,p.Thr75Ala,ENST00000567880,;TCF4,missense_variant,p.Thr75Ala,ENST00000354452,;TCF4,missense_variant,p.Thr75Ala,ENST00000562543,;TCF4,missense_variant,p.Thr51Ala,ENST00000564343,;TCF4,missense_variant,p.Thr51Ala,ENST00000540999,;TCF4,missense_variant,p.Thr51Ala,ENST00000568147,;TCF4,missense_variant,p.Thr51Ala,ENST00000563888,;TCF4,missense_variant,p.Thr79Ala,ENST00000568169,;TCF4,missense_variant,p.Thr75Ala,ENST00000564999,;TCF4,missense_variant,p.Thr51Ala,ENST00000566514,;TCF4,missense_variant,p.Thr51Ala,ENST00000565908,;TCF4,missense_variant,p.Thr51Ala,ENST00000569357,;TCF4,missense_variant,p.Thr75Ala,ENST00000356073,;TCF4,5_prime_UTR_variant,,ENST00000562847,;RP11-619L19.1,intron_variant,,ENST00000587660,;TCF4,non_coding_transcript_exon_variant,,ENST00000565580,;TCF4,non_coding_transcript_exon_variant,,ENST00000563686,;	586	81	91	SUCCESS
NETO1	81832	.	GRCh37	18	70532098	70532098	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	92	0	ENST00000327305.6:c.165T>C	p.Ser55=	p.S55=	ENST00000327305	NM_138966.3	55	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS12000.1	165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGAGAGGT	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127,PROSITE_profiles:PS01180	.	.	ENSP00000313088	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,synonymous_variant,p.%3D,ENST00000327305,;NETO1,synonymous_variant,p.%3D,ENST00000397929,;NETO1,synonymous_variant,p.%3D,ENST00000299430,;NETO1,synonymous_variant,p.%3D,ENST00000579169,;NETO1,synonymous_variant,p.%3D,ENST00000583169,;RP11-676J15.1,upstream_gene_variant,,ENST00000580564,;RP11-676J15.1,upstream_gene_variant,,ENST00000578967,;NETO1,non_coding_transcript_exon_variant,,ENST00000580049,;NETO1,non_coding_transcript_exon_variant,,ENST00000579730,;NETO1,downstream_gene_variant,,ENST00000577184,;	823	92	99	SUCCESS
CNDP2	55748	.	GRCh37	18	72186270	72186270	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	37	90	0	ENST00000324262.4:c.1297A>G	p.Met433Val	p.M433V	ENST00000324262	NM_018235.2	433	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS12006.1	1297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCATGCTG	NONE	.	.	hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187	.	.	ENSP00000325548	.	11/12	.	.	.	.	.	.	.	.	COSM989873	11/12	PASS	ENST00000324262	Transcript	.	.	ENSG00000133313	24437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.016)	.	tolerated(0.06)	1	CNDP2_HUMAN	CNDP2	HGNC	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN	.	UPI00000463FE	SNV	CNDP2,missense_variant,p.Met433Val,ENST00000579847,;CNDP2,missense_variant,p.Met433Val,ENST00000324262,;CNDP2,missense_variant,p.Met349Val,ENST00000324301,;CNDP2,intron_variant,,ENST00000579624,;CNDP2,downstream_gene_variant,,ENST00000583695,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,downstream_gene_variant,,ENST00000577409,;CNDP2,downstream_gene_variant,,ENST00000581600,;	1613	90	98	SUCCESS
EPOR	2057	.	GRCh37	19	11488770	11488784	+	inframe_deletion	In_Frame_Del	DEL	AGTCCCCTGAGCTGT	AGTCCCCTGAGCTGT	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	AGTCCCCTGAGCTGT	AGTCCCCTGAGCTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	50	0	ENST00000222139.6:c.1403_1417del	p.Tyr468_Asp472del	p.Y468_D472del	ENST00000222139	NM_000121.3	468	tACAGCTCAGGGGACTcc/tcc	0	.	.	.	.	.	-	YSSGDS/S	protein_coding	YES	CCDS12260.1	1403-1417	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGGGAGTCCCCTGAGCTGTAGTCA	NONE	.	.	hmmpanther:PTHR23037:SF7,hmmpanther:PTHR23037,PIRSF_domain:PIRSF001959	.	.	ENSP00000222139	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000222139	Transcript	1	.	ENSG00000187266	3416	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPOR_HUMAN	EPOR	HGNC	I6R7G3_HUMAN	.	UPI000012A0AD	deletion	EPOR,inframe_deletion,p.Tyr468_Asp472del,ENST00000222139,;EPOR,3_prime_UTR_variant,,ENST00000592375,;SWSAP1,downstream_gene_variant,,ENST00000312423,;CTD-2342J14.6,upstream_gene_variant,,ENST00000590399,;EPOR,3_prime_UTR_variant,,ENST00000586890,;EPOR,3_prime_UTR_variant,,ENST00000588859,;EPOR,3_prime_UTR_variant,,ENST00000591958,;EPOR,non_coding_transcript_exon_variant,,ENST00000588681,;EPOR,downstream_gene_variant,,ENST00000590927,;EPOR,downstream_gene_variant,,ENST00000589402,;	1508-1522	50	51	SUCCESS
ATP13A1	57130	.	GRCh37	19	19766404	19766404	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	77	0	ENST00000357324.6:c.1329G>C	p.Glu443Asp	p.E443D	ENST00000357324	NM_020410.2	443	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS32970.2	1329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTCTCCAG	NONE	.	.	Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82	.	.	ENSP00000349877	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,missense_variant,p.Glu325Asp,ENST00000291503,;ATP13A1,missense_variant,p.Glu443Asp,ENST00000357324,;ATP13A1,downstream_gene_variant,,ENST00000455627,;ATP13A1,downstream_gene_variant,,ENST00000487364,;ATP13A1,upstream_gene_variant,,ENST00000496082,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000474955,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497762,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,upstream_gene_variant,,ENST00000469641,;ATP13A1,upstream_gene_variant,,ENST00000497556,;ATP13A1,upstream_gene_variant,,ENST00000491221,;ATP13A1,downstream_gene_variant,,ENST00000492774,;ATP13A1,upstream_gene_variant,,ENST00000497156,;ATP13A1,upstream_gene_variant,,ENST00000471063,;	1356	77	86	SUCCESS
RP11-420K14.6	0	.	GRCh37	19	21933647	21933647	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	20	0	ENST00000596710.1:n.99C>A		p.*33*	ENST00000596710				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42538.1	.	RADIA|MUTECT|MUSE	.	ACGCCCCATGG	NONE	.	.	.	.	.	ENSP00000351042	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358296	Transcript	.	.	ENSG00000197020	12880	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN100_HUMAN	ZNF100	HGNC	Q6MZN6_HUMAN	.	UPI00001614AC	SNV	ZNF100,intron_variant,,ENST00000598026,;ZNF100,intron_variant,,ENST00000358296,;ZNF100,upstream_gene_variant,,ENST00000594401,;ZNF100,upstream_gene_variant,,ENST00000305570,;AC092364.2,upstream_gene_variant,,ENST00000579465,;RP11-420K14.6,non_coding_transcript_exon_variant,,ENST00000596710,;ZNF100,downstream_gene_variant,,ENST00000596452,;RP11-420K14.6,upstream_gene_variant,,ENST00000597012,;	.	20	12	SUCCESS
DOT1L	84444	.	GRCh37	19	2227023	2227023	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	23	0	ENST00000398665.3:c.4503G>A	p.Val1501=	p.V1501=	ENST00000398665	NM_032482.2	1501	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42460.1	4503	RADIA|MUTECT|MUSE	.	TCTGTGCCGGC	NONE	.	.	hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,PIRSF_domain:PIRSF037123	.	.	ENSP00000381657	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,synonymous_variant,p.%3D,ENST00000457590,;DOT1L,synonymous_variant,p.%3D,ENST00000446286,;DOT1L,synonymous_variant,p.%3D,ENST00000398665,;PLEKHJ1,downstream_gene_variant,,ENST00000587394,;DOT1L,downstream_gene_variant,,ENST00000482433,;	4539	23	12	SUCCESS
DOHH	83475	.	GRCh37	19	3496829	3496829	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	39	0	ENST00000250937.3:c.-17G>A		p.*6*	ENST00000250937	NM_031304.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12108.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGGTCCCGGC	NONE	.	.	.	.	.	ENSP00000398882	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000427575	Transcript	.	.	ENSG00000129932	28662	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOHH_HUMAN	DOHH	HGNC	K7EIV2_HUMAN	.	UPI0000071C59	SNV	DOHH,5_prime_UTR_variant,,ENST00000250937,;DOHH,5_prime_UTR_variant,,ENST00000427575,;DOHH,5_prime_UTR_variant,,ENST00000592858,;DOHH,upstream_gene_variant,,ENST00000587122,;RN7SL866P,upstream_gene_variant,,ENST00000578785,;DOHH,upstream_gene_variant,,ENST00000586906,;	436	39	31	SUCCESS
HPN	3249	.	GRCh37	19	35551277	35551277	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	48	58	0	ENST00000262626.2:c.481G>T	p.Asp161Tyr	p.D161Y	ENST00000262626	NM_182983.2	161	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS32993.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGACCGC	BUFFER|p.I163I|c.489C>T|4	.	.	hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5	.	.	ENSP00000262626	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000262626	Transcript	.	.	ENSG00000105707	5155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	deleterious(0)	.	HEPS_HUMAN	HPN	HGNC	M0R244_HUMAN,B2ZDQ2_HUMAN	.	UPI000003FE67	SNV	HPN,missense_variant,p.Asp161Tyr,ENST00000262626,;HPN,missense_variant,p.Asp161Tyr,ENST00000392226,;HPN,intron_variant,,ENST00000597419,;HPN,downstream_gene_variant,,ENST00000600390,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,downstream_gene_variant,,ENST00000600675,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,downstream_gene_variant,,ENST00000596662,;	1306	58	87	SUCCESS
SELV	0	.	GRCh37	19	40006592	40006592	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773438958	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	41	116	0	ENST00000335426.4:c.740C>A	p.Thr247Lys	p.T247K	ENST00000335426	NM_182704.1	247	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS54266.1	740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACGGAAA	NONE	byFrequency	.	hmmpanther:PTHR15124:SF17,hmmpanther:PTHR15124	.	.	ENSP00000333956	.	1/6	.	.	.	.	.	.	.	.	rs773438958	1/6	PASS	ENST00000335426	Transcript	.	.	ENSG00000186838	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	tolerated(0.08)	.	SELV_HUMAN	SELV	Uniprot_gn	.	.	UPI00001B2974	SNV	SELV,missense_variant,p.Thr247Lys,ENST00000423711,;SELV,missense_variant,p.Thr247Lys,ENST00000335426,;SELV,missense_variant,p.Thr47Lys,ENST00000600586,;SELV,non_coding_transcript_exon_variant,,ENST00000597876,;	840	116	195	SUCCESS
ZNF229	7772	.	GRCh37	19	44933829	44933829	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	34	71	0	ENST00000588931.1:c.1127C>A	p.Pro376His	p.P376H	ENST00000588931	NM_014518.2	376	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS42574.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGGGTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000466519	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,missense_variant,p.Pro376His,ENST00000588931,;ZNF229,missense_variant,p.Pro370His,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	1561	71	144	SUCCESS
EMC10	284361	.	GRCh37	19	50984147	50984147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	57	78	0	ENST00000334976.6:c.591G>T	p.Glu197Asp	p.E197D	ENST00000334976	NM_206538.2	197	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS12796.1	591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGACGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21397:SF3,hmmpanther:PTHR21397	.	.	ENSP00000334037	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000334976	Transcript	.	.	ENSG00000161671	27609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	tolerated(0.59)	.	EMC10_HUMAN	EMC10	HGNC	.	.	UPI0000036D2B	SNV	EMC10,missense_variant,p.Glu197Asp,ENST00000598585,;EMC10,missense_variant,p.Glu197Asp,ENST00000376918,;EMC10,missense_variant,p.Glu197Asp,ENST00000334976,;FAM71E1,upstream_gene_variant,,ENST00000595790,;EMC10,downstream_gene_variant,,ENST00000597799,;FAM71E1,upstream_gene_variant,,ENST00000600100,;EMC10,downstream_gene_variant,,ENST00000597426,;CTD-2545M3.2,intron_variant,,ENST00000598194,;EMC10,3_prime_UTR_variant,,ENST00000599293,;EMC10,3_prime_UTR_variant,,ENST00000601780,;FAM71E1,upstream_gene_variant,,ENST00000599206,;FAM71E1,upstream_gene_variant,,ENST00000600330,;EMC10,upstream_gene_variant,,ENST00000594508,;FAM71E1,upstream_gene_variant,,ENST00000602178,;	637	78	109	SUCCESS
SIGLEC5	8778	.	GRCh37	19	52133162	52133162	+	synonymous_variant	Silent	SNP	G	G	A	rs559592597	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	24	0	ENST00000534261.2:c.345C>T	p.Ser115=	p.S115=	ENST00000534261		115	agC/agT	0	.	A:0	.	A:0.0216	.	A	S	protein_coding	YES	CCDS33088.1	345	RADIA|VARSCANS	.	AAATAGCTTCC	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0.0169	.	ENSP00000455510	A:0	2/9	.	.	.	.	.	.	.	.	rs559592597,COSM4000853	2/9	common_in_exac	ENST00000570106	Transcript	.	A:0.0066	ENSG00000105501	10874	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0.001	.	0,1	SIGL5_HUMAN	SIGLEC5	HGNC	.	.	UPI000011B40C	SNV	SIGLEC5,synonymous_variant,p.%3D,ENST00000534261,;SIGLEC5,synonymous_variant,p.%3D,ENST00000570106,;SIGLEC5,synonymous_variant,p.%3D,ENST00000429354,;SIGLEC5,intron_variant,,ENST00000599649,;SIGLEC5,intron_variant,,ENST00000222107,;	345	24	50	SUCCESS
ZNF702P	79986	.	GRCh37	19	53472368	53472368	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	20	17	0	ENST00000270443.4:n.2126A>T		p.*709*	ENST00000270443				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTTTCTTG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000598752,;ZNF702P,downstream_gene_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	2126	17	29	SUCCESS
LILRB3	11025	.	GRCh37	19	54724954	54724954	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs751839779	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	29	35	0	ENST00000245620.9:c.955+1G>T		p.X319_splice	ENST00000245620		319		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46175.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACCTGCC	NONE	.	.	.	.	.	ENSP00000245620	.	.	.	.	.	.	.	.	.	.	rs751839779	.	PASS	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	HIGH	5/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,splice_donor_variant,,ENST00000424807,;LILRB3,splice_donor_variant,,ENST00000407860,;LILRA6,splice_donor_variant,,ENST00000270464,;LILRB3,splice_donor_variant,,ENST00000391750,;LILRB3,splice_donor_variant,,ENST00000245620,;LILRB3,splice_donor_variant,,ENST00000346401,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,intron_variant,,ENST00000440558,;LILRA6,intron_variant,,ENST00000419410,;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,splice_donor_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,upstream_gene_variant,,ENST00000460208,;	.	35	40	SUCCESS
ZIM3	114026	.	GRCh37	19	57648312	57648312	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	80	114	0	ENST00000269834.1:c.170T>C	p.Val57Ala	p.V57A	ENST00000269834	NM_052882.1	57	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS33125.1	170	RADIA|MUTECT|MUSE	.	AGATCACATCG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000269834	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000269834	Transcript	.	.	ENSG00000141946	16366	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.935)	.	tolerated(0.1)	.	ZIM3_HUMAN	ZIM3	HGNC	.	.	UPI000013C3E0	SNV	ZIM3,missense_variant,p.Val57Ala,ENST00000269834,;U3,upstream_gene_variant,,ENST00000516874,;	556	114	188	SUCCESS
DUS3L	56931	.	GRCh37	19	5789493	5789493	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1295086525	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	64	0	ENST00000309061.7:c.625G>A	p.Gly209Ser	p.G209S	ENST00000309061	NM_020175.2	209	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32880.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGTTGC	NONE	.	.	.	.	.	ENSP00000311977	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000309061	Transcript	.	.	ENSG00000141994	26920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.7)	.	DUS3L_HUMAN	DUS3L	HGNC	D6W636_HUMAN	.	UPI0000140953	SNV	DUS3L,missense_variant,p.Gly209Ser,ENST00000309061,;DUS3L,3_prime_UTR_variant,,ENST00000592491,;DUS3L,intron_variant,,ENST00000320699,;PRR22,upstream_gene_variant,,ENST00000419421,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,upstream_gene_variant,,ENST00000590343,;PRR22,upstream_gene_variant,,ENST00000390672,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590681,;DUS3L,synonymous_variant,p.%3D,ENST00000590110,;DUS3L,3_prime_UTR_variant,,ENST00000585587,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,upstream_gene_variant,,ENST00000591560,;DUS3L,upstream_gene_variant,,ENST00000593229,;DUS3L,upstream_gene_variant,,ENST00000592468,;DUS3L,downstream_gene_variant,,ENST00000589854,;DUS3L,upstream_gene_variant,,ENST00000590087,;DUS3L,upstream_gene_variant,,ENST00000589841,;DUS3L,upstream_gene_variant,,ENST00000592673,;	722	64	59	SUCCESS
ZNF587	84914	.	GRCh37	19	58370623	58370623	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	129	158	0	ENST00000339656.5:c.843C>T	p.Ser281=	p.S281=	ENST00000339656	NM_032828.3	281	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12964.1	843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCAGCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000345479	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000339656	Transcript	.	.	ENSG00000198466	30955	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN587_HUMAN	ZNF587	HGNC	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0QXF5_HUMAN,E7EP41_HUMAN	.	UPI0000073916	SNV	ZNF587,synonymous_variant,p.%3D,ENST00000423137,;ZNF587,synonymous_variant,p.%3D,ENST00000419854,;ZNF587,synonymous_variant,p.%3D,ENST00000339656,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597832,;CTD-2583A14.10,downstream_gene_variant,,ENST00000598031,;CTD-2583A14.10,downstream_gene_variant,,ENST00000597134,;ZNF587B,downstream_gene_variant,,ENST00000316462,;CTD-2583A14.10,downstream_gene_variant,,ENST00000593873,;CTD-2583A14.10,downstream_gene_variant,,ENST00000596498,;CTD-2583A14.10,downstream_gene_variant,,ENST00000603271,;ZNF814,upstream_gene_variant,,ENST00000597652,;ZNF587,upstream_gene_variant,,ENST00000596433,;ZNF814,non_coding_transcript_exon_variant,,ENST00000596184,;ZNF814,intron_variant,,ENST00000595894,;CTD-2583A14.10,downstream_gene_variant,,ENST00000604231,;	1025	158	202	SUCCESS
C19orf59	0	.	GRCh37	19	7743056	7743056	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	55	0	ENST00000333598.3:c.251T>C	p.Leu84Pro	p.L84P	ENST00000333598	NM_174918.2	84	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS12183.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGAGCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000329920	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000333598	Transcript	.	.	ENSG00000183019	27291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	MCEM1_HUMAN	C19orf59	HGNC	.	.	UPI000007442E	SNV	C19orf59,missense_variant,p.Leu84Pro,ENST00000333598,;C19orf59,missense_variant,p.Leu41Pro,ENST00000597445,;TRAPPC5,upstream_gene_variant,,ENST00000595985,;TRAPPC5,upstream_gene_variant,,ENST00000426877,;CTD-3214H19.16,upstream_gene_variant,,ENST00000597959,;TRAPPC5,upstream_gene_variant,,ENST00000317378,;TRAPPC5,upstream_gene_variant,,ENST00000596148,;C19orf59,non_coding_transcript_exon_variant,,ENST00000598851,;	705	55	61	SUCCESS
MUC16	94025	.	GRCh37	19	8959675	8959675	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	64	0	ENST00000397910.4:c.43457A>C	p.Glu14486Ala	p.E14486A	ENST00000397910	NM_024690.2	14486	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS54212.1	43457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATTCTCCT	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	84/84	.	.	.	.	.	.	.	.	.	84/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Glu1127Ala,ENST00000380951,;MUC16,missense_variant,p.Glu14486Ala,ENST00000397910,;MUC16,missense_variant,p.Glu1309Ala,ENST00000599436,;MUC16,3_prime_UTR_variant,,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	43661	64	69	SUCCESS
MUC16	94025	.	GRCh37	19	8993436	8993436	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	59	0	ENST00000397910.4:c.41653C>A	p.Leu13885Met	p.L13885M	ENST00000397910	NM_024690.2	13885	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS54212.1	41653	MUTECT|MUSE	.	GGTCAGCTGGC	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	66/84	.	.	.	.	.	.	.	.	COSM3893986	66/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.996)	.	.	1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu526Met,ENST00000380951,;MUC16,missense_variant,p.Leu13885Met,ENST00000397910,;MUC16,missense_variant,p.Leu725Met,ENST00000599436,;MUC16,missense_variant,p.Leu703Met,ENST00000601404,;MUC16,missense_variant,p.Leu505Met,ENST00000596768,;	41857	59	75	SUCCESS
FNDC7	163479	.	GRCh37	1	109265059	109265059	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1395872194	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	7	90	0	ENST00000370017.3:c.701T>C	p.Met234Thr	p.M234T	ENST00000370017	NM_001144937.1	234	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS44185.1	701	MUTECT|MUSE	.	TGTGATGGCTT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853	.	.	ENSP00000359034	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000370017	Transcript	.	.	ENSG00000143107	26668	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	FNDC7_HUMAN	FNDC7	HGNC	.	.	UPI000187497A	SNV	FNDC7,missense_variant,p.Met10Thr,ENST00000445274,;FNDC7,missense_variant,p.Met234Thr,ENST00000370017,;FNDC7,missense_variant,p.Met235Thr,ENST00000271311,;	978	90	131	SUCCESS
VANGL1	81839	.	GRCh37	1	116206555	116206555	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	82	0	ENST00000310260.3:c.478C>T	p.Leu160Phe	p.L160F	ENST00000310260	NM_001172412.1	160	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS883.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAACTCCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF8,Pfam_domain:PF06638,PIRSF_domain:PIRSF007991	.	.	ENSP00000347672	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000355485	Transcript	.	.	ENSG00000173218	15512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	VANG1_HUMAN	VANGL1	HGNC	.	.	UPI0000070B72	SNV	VANGL1,missense_variant,p.Leu160Phe,ENST00000355485,;VANGL1,missense_variant,p.Leu160Phe,ENST00000369509,;VANGL1,missense_variant,p.Leu158Phe,ENST00000369510,;VANGL1,missense_variant,p.Leu160Phe,ENST00000310260,;	749	82	100	SUCCESS
RPRD2	23248	.	GRCh37	1	150437119	150437119	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	58	0	ENST00000369068.4:c.1528A>G	p.Ile510Val	p.I510V	ENST00000369068	NM_015203.3	510	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS44216.1	1528	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATATCCTC	NONE	.	.	hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0	.	.	ENSP00000358064	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000369068	Transcript	.	.	ENSG00000163125	29039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0.03)	.	RPRD2_HUMAN	RPRD2	HGNC	.	.	UPI00001D7CA8	SNV	RPRD2,missense_variant,p.Ile510Val,ENST00000369068,;RPRD2,missense_variant,p.Ile484Val,ENST00000539519,;RPRD2,missense_variant,p.Ile484Val,ENST00000401000,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	1532	58	101	SUCCESS
PRG4	10216	.	GRCh37	1	186282008	186282008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	73	77	0	ENST00000445192.2:c.4099T>A	p.Tyr1367Asn	p.Y1367N	ENST00000445192	NM_005807.3	1367	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS1369.1	4099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATTACTAT	NONE	.	.	hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,Gene3D:2.110.10.10,Superfamily_domains:SSF50923	.	.	ENSP00000399679	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,missense_variant,p.Tyr1324Asn,ENST00000367486,;PRG4,missense_variant,p.Tyr1326Asn,ENST00000367483,;PRG4,missense_variant,p.Tyr1274Asn,ENST00000367485,;PRG4,missense_variant,p.Tyr896Asn,ENST00000367484,;PRG4,missense_variant,p.Tyr1367Asn,ENST00000445192,;TPR,3_prime_UTR_variant,,ENST00000367478,;PRG4,downstream_gene_variant,,ENST00000367482,;RNU6-1240P,upstream_gene_variant,,ENST00000365155,;	4144	77	162	SUCCESS
CFH	3075	.	GRCh37	1	196648796	196648796	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1259243201	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	72	157	0	ENST00000367429.4:c.663A>G	p.Ile221Met	p.I221M	ENST00000367429	NM_000186.3	221	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS1385.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATATCTCA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356399	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000367429	Transcript	.	.	ENSG00000000971	4883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.11)	.	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	SNV	CFH,missense_variant,p.Ile157Met,ENST00000359637,;CFH,missense_variant,p.Ile221Met,ENST00000367429,;CFH,missense_variant,p.Ile221Met,ENST00000439155,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	903	157	286	SUCCESS
NR5A2	2494	.	GRCh37	1	200017315	200017315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762746404	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	33	84	0	ENST00000367362.3:c.479G>A	p.Arg160Gln	p.R160Q	ENST00000367362	NM_205860.2	160	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS1401.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCGAATGC	NONE	.	.	hmmpanther:PTHR24086:SF18,hmmpanther:PTHR24086,Gene3D:3.30.50.10,PIRSF_domain:PIRSF002530,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716	.	.	ENSP00000356331	.	5/8	.	.	.	.	.	.	.	.	rs762746404	5/8	PASS	ENST00000367362	Transcript	.	.	ENSG00000116833	7984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NR5A2_HUMAN	NR5A2	HGNC	Q8WY08_HUMAN,B4E2P3_HUMAN	.	UPI0000130482	SNV	NR5A2,missense_variant,p.Arg88Gln,ENST00000544748,;NR5A2,missense_variant,p.Arg114Gln,ENST00000236914,;NR5A2,missense_variant,p.Arg160Gln,ENST00000367362,;NR5A2,missense_variant,p.Arg81Gln,ENST00000367357,;NR5A2,downstream_gene_variant,,ENST00000474307,;	725	84	141	SUCCESS
IL10	3586	.	GRCh37	1	206941984	206941984	+	synonymous_variant	Silent	SNP	G	G	A	rs771277922	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	57	0	ENST00000423557.1:c.534C>T	p.Asn178=	p.N178=	ENST00000423557	NM_000572.2	178	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS1467.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGTTTCG	NONE	byFrequency	.	hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF1	.	.	ENSP00000412237	.	5/5	.	.	.	.	.	.	.	.	rs771277922	5/5	PASS	ENST00000423557	Transcript	.	.	ENSG00000136634	5962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL10_HUMAN	IL10	HGNC	Q71UZ1_HUMAN,Q6LBF4_HUMAN,Q6FGW4_HUMAN	.	UPI0000034E50	SNV	IL10,synonymous_variant,p.%3D,ENST00000423557,;IL10,downstream_gene_variant,,ENST00000471071,;IL10,downstream_gene_variant,,ENST00000367099,;	593	57	75	SUCCESS
C4BPA	722	.	GRCh37	1	207288805	207288805	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768900889	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	45	96	0	ENST00000367070.3:c.373G>A	p.Glu125Lys	p.E125K	ENST00000367070	NM_000715.3	125	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1477.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGAGATT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356037	.	4/12	.	.	.	.	.	.	.	.	rs768900889	4/12	PASS	ENST00000367070	Transcript	.	.	ENSG00000123838	1325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.761)	.	tolerated(0.29)	.	C4BPA_HUMAN	C4BPA	HGNC	Q5VVQ8_HUMAN,A6PVY5_HUMAN	.	UPI0000126C28	SNV	C4BPA,missense_variant,p.Glu125Lys,ENST00000367070,;C4BPA,missense_variant,p.Glu125Lys,ENST00000421786,;C4BPA,3_prime_UTR_variant,,ENST00000424088,;	567	96	160	SUCCESS
SH2D5	400745	.	GRCh37	1	21048322	21048322	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	120	0	ENST00000444387.2:c.1235A>T	p.His412Leu	p.H412L	ENST00000444387	NM_001103161.1	412	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS44080.1	1235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATGGCTG	NONE	.	.	hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF24	.	.	ENSP00000406026	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000444387	Transcript	.	.	ENSG00000189410	28819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	SH2D5_HUMAN	SH2D5	HGNC	E5RJW5_HUMAN,E5RGV2_HUMAN,E5RGJ3_HUMAN	.	UPI0000EE70C3	SNV	SH2D5,missense_variant,p.His328Leu,ENST00000375031,;SH2D5,missense_variant,p.His412Leu,ENST00000444387,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,downstream_gene_variant,,ENST00000517430,;KIF17,upstream_gene_variant,,ENST00000247986,;KIF17,upstream_gene_variant,,ENST00000375044,;SH2D5,downstream_gene_variant,,ENST00000447746,;KIF17,upstream_gene_variant,,ENST00000400463,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	1633	120	110	SUCCESS
RCOR3	55758	.	GRCh37	1	211486345	211486345	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	26	97	0	ENST00000367005.4:c.1143+42A>G		p.*381*	ENST00000367005	NM_018254.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44312.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGGAATCACC	NONE	.	.	.	.	.	ENSP00000413929	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,3_prime_UTR_variant,,ENST00000452621,;RCOR3,intron_variant,,ENST00000534460,;RCOR3,intron_variant,,ENST00000529763,;RCOR3,intron_variant,,ENST00000367006,;RCOR3,intron_variant,,ENST00000419091,;RCOR3,intron_variant,,ENST00000367005,;RCOR3,intron_variant,,ENST00000526255,;RCOR3,non_coding_transcript_exon_variant,,ENST00000528066,;RCOR3,intron_variant,,ENST00000486666,;RCOR3,downstream_gene_variant,,ENST00000485186,;RCOR3,downstream_gene_variant,,ENST00000528926,;	.	97	134	SUCCESS
AURKAPS1	0	.	GRCh37	1	220440670	220440670	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	43	0	ENST00000451805.2:n.590A>G		p.*197*	ENST00000451805				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31028.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCATACAGT	NONE	.	.	.	.	.	ENSP00000351832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODIFIER	1/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,intron_variant,,ENST00000358951,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000462353,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,intron_variant,,ENST00000475769,;RAB3GAP2,intron_variant,,ENST00000474178,;RAB3GAP2,intron_variant,,ENST00000237724,;AURKAPS1,non_coding_transcript_exon_variant,,ENST00000451805,;	.	43	66	SUCCESS
GPR3	2827	.	GRCh37	1	27721062	27721062	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	44	0	ENST00000374024.3:c.760G>C	p.Gly254Arg	p.G254R	ENST00000374024	NM_005281.3	254	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS303.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTGGAGCC	BUFFER|p.V251M|c.751G>A|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF39,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000363136	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374024	Transcript	.	.	ENSG00000181773	4484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GPR3_HUMAN	GPR3	HGNC	F1DAM5_HUMAN	.	UPI0000001624	SNV	GPR3,missense_variant,p.Gly254Arg,ENST00000374024,;RP1-144C9.2,downstream_gene_variant,,ENST00000443746,;	859	44	54	SUCCESS
SMIM12	113444	.	GRCh37	1	35321400	35321400	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	96	0	ENST00000417239.1:c.179A>T	p.Glu60Val	p.E60V	ENST00000417239		60	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS53295.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTCATCC	NONE	.	.	.	.	.	ENSP00000428585	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000521580	Transcript	.	.	ENSG00000163866	25154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	SIM12_HUMAN	SMIM12	HGNC	L0R6D7_HUMAN	.	UPI0000039F00	SNV	SMIM12,missense_variant,p.Glu60Val,ENST00000456842,;SMIM12,missense_variant,p.Glu60Val,ENST00000417239,;SMIM12,missense_variant,p.Glu60Val,ENST00000423898,;SMIM12,missense_variant,p.Glu60Val,ENST00000521580,;SMIM12,missense_variant,p.Glu60Val,ENST00000446026,;RP5-997D16.2,downstream_gene_variant,,ENST00000429293,;SMIM12,missense_variant,p.Glu60Val,ENST00000426886,;	324	96	111	SUCCESS
ZMYM1	79830	.	GRCh37	1	35580361	35580361	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	72	230	0	ENST00000359858.4:c.2930A>G	p.Gln977Arg	p.Q977R	ENST00000359858	NM_024772.3	977	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS41302.1	2930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACAAAATT	NONE	.	.	hmmpanther:PTHR11697:SF88,hmmpanther:PTHR11697	.	.	ENSP00000362427	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000373330	Transcript	.	.	ENSG00000197056	26253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.16)	.	ZMYM1_HUMAN	ZMYM1	HGNC	Q9H5R2_HUMAN,Q5SW02_HUMAN,Q5SVZ7_HUMAN	.	UPI0000203ED6	SNV	ZMYM1,missense_variant,p.Gln977Arg,ENST00000373330,;ZMYM1,missense_variant,p.Gln977Arg,ENST00000359858,;ZMYM1,downstream_gene_variant,,ENST00000417119,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,downstream_gene_variant,,ENST00000475654,;ZMYM1,downstream_gene_variant,,ENST00000488455,;ZMYM1,downstream_gene_variant,,ENST00000463393,;	3104	231	259	SUCCESS
ZFP69	339559	.	GRCh37	1	40955271	40955271	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs148845197	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	45	103	0	ENST00000372705.3:c.417A>T	p.Lys139Asn	p.K139N	ENST00000372705	NM_198494.2	139	aaA/aaT	0	G:0.0048	G:0.0053	.	G:0	.	T	K/N	protein_coding	YES	CCDS30686.1	417	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAAGAAGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF74,hmmpanther:PTHR24381	G:0	G:0	ENSP00000361791	G:0	5/6	.	.	.	.	.	.	.	.	rs148845197	5/6	PASS	ENST00000372706	Transcript	.	G:0.0014	ENSG00000187815	24708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	G:0	tolerated(0.11)	.	ZFP69_HUMAN	ZFP69	HGNC	.	.	UPI0000160858	SNV	ZFP69,missense_variant,p.Lys139Asn,ENST00000372706,;ZFP69,missense_variant,p.Lys139Asn,ENST00000372705,;RP11-656D10.3,downstream_gene_variant,,ENST00000450713,;ZFP69,non_coding_transcript_exon_variant,,ENST00000482712,;	1423	103	149	SUCCESS
TIE1	7075	.	GRCh37	1	43774798	43774798	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	46	134	0	ENST00000372476.3:c.1184T>C	p.Leu395Pro	p.L395P	ENST00000372476	NM_005424.4	395	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS482.1	1184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTCCTGG	BUFFER|p.D391D|c.1173C>T|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40	.	.	ENSP00000361554	.	8/23	.	.	.	.	.	.	.	.	COSM3400794	8/23	PASS	ENST00000372476	Transcript	.	.	ENSG00000066056	11809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.975)	.	deleterious(0)	1	TIE1_HUMAN	TIE1	HGNC	Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN	.	UPI0000032E59	SNV	TIE1,missense_variant,p.Leu395Pro,ENST00000372476,;TIE1,missense_variant,p.Leu40Pro,ENST00000433781,;TIE1,intron_variant,,ENST00000441333,;TIE1,downstream_gene_variant,,ENST00000538015,;TIE1,non_coding_transcript_exon_variant,,ENST00000488437,;TIE1,upstream_gene_variant,,ENST00000461061,;TIE1,upstream_gene_variant,,ENST00000471187,;TIE1,upstream_gene_variant,,ENST00000473014,;TIE1,downstream_gene_variant,,ENST00000485125,;TIE1,downstream_gene_variant,,ENST00000480269,;	1263	134	157	SUCCESS
TNNI3K	51086	.	GRCh37	1	74716453	74716453	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1415041740	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	55	0	ENST00000326637.3:c.333G>A		p.X111_splice	ENST00000326637	NM_015978.2	111	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS44161.2	675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGGTAGG	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF00023,Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000450895	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000557284	Transcript	.	.	ENSG00000259030	42952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FPGT-TNNI3K	HGNC	A6NHC7_HUMAN	.	UPI0001EECC26	SNV	FPGT-TNNI3K,synonymous_variant,p.%3D,ENST00000370895,;TNNI3K,synonymous_variant,p.%3D,ENST00000370891,;FPGT-TNNI3K,synonymous_variant,p.%3D,ENST00000557284,;TNNI3K,synonymous_variant,p.%3D,ENST00000326637,;FPGT-TNNI3K,synonymous_variant,p.%3D,ENST00000370899,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT-TNNI3K,downstream_gene_variant,,ENST00000533006,;	680	55	56	SUCCESS
RERE	473	.	GRCh37	1	8418319	8418319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	62	0	ENST00000337907.3:c.4276C>T	p.His1426Tyr	p.H1426Y	ENST00000337907	NM_012102.3	1426	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS95.1	4276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGGTGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,Pfam_domain:PF03154	.	.	ENSP00000338629	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000337907	Transcript	.	.	ENSG00000142599	9965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	RERE_HUMAN	RERE	HGNC	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN	.	UPI00001419CC	SNV	RERE,missense_variant,p.His1426Tyr,ENST00000400908,;RERE,missense_variant,p.His1158Tyr,ENST00000377464,;RERE,missense_variant,p.His1426Tyr,ENST00000337907,;RERE,missense_variant,p.His872Tyr,ENST00000476556,;RERE,intron_variant,,ENST00000505225,;RERE,intron_variant,,ENST00000400907,;RERE,upstream_gene_variant,,ENST00000467350,;	4911	62	35	SUCCESS
ZNF644	84146	.	GRCh37	1	91406719	91406719	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	120	0	ENST00000337393.5:c.192A>G	p.Thr64=	p.T64=	ENST00000337393	NM_201269.2	64	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS731.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGTTTG	NONE	.	.	.	.	.	ENSP00000359469	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,synonymous_variant,p.%3D,ENST00000370440,;ZNF644,synonymous_variant,p.%3D,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,non_coding_transcript_exon_variant,,ENST00000498303,;ZNF644,intron_variant,,ENST00000467231,;	410	120	118	SUCCESS
ITCH	83737	.	GRCh37	20	33059320	33059320	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	47	66	0	ENST00000262650.6:c.1692G>C	p.Gln564His	p.Q564H	ENST00000262650		564	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS58768.1	1692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGGTACT	NONE	.	.	Superfamily_domains:SSF56204,PIRSF_domain:PIRSF001569,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66	.	.	ENSP00000262650	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000262650	Transcript	1	.	ENSG00000078747	13890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	ITCH_HUMAN	ITCH	HGNC	.	.	UPI00000731C2	SNV	ITCH,missense_variant,p.Gln523His,ENST00000374864,;ITCH,missense_variant,p.Gln413His,ENST00000535650,;ITCH,missense_variant,p.Gln564His,ENST00000262650,;ITCH,splice_region_variant,,ENST00000461661,;ITCH,splice_region_variant,,ENST00000483727,;FDX1P1,downstream_gene_variant,,ENST00000449115,;	1828	66	103	SUCCESS
ITCH	83737	.	GRCh37	20	33095536	33095536	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	60	0	ENST00000262650.6:c.2649T>C	p.Tyr883=	p.Y883=	ENST00000262650		883	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS58768.1	2649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTATGAGCA	NONE	.	.	Superfamily_domains:SSF56204,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66,PROSITE_profiles:PS50237	.	.	ENSP00000262650	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000262650	Transcript	1	.	ENSG00000078747	13890	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITCH_HUMAN	ITCH	HGNC	.	.	UPI00000731C2	SNV	ITCH,synonymous_variant,p.%3D,ENST00000374864,;ITCH,synonymous_variant,p.%3D,ENST00000535650,;ITCH,synonymous_variant,p.%3D,ENST00000262650,;	2785	60	99	SUCCESS
CEP250	11190	.	GRCh37	20	34063355	34063355	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	69	0	ENST00000397527.1:c.1600A>G	p.Lys534Glu	p.K534E	ENST00000397527	NM_007186.3	534	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS13255.1	1600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAAACAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	.	ENSP00000380661	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Lys533Glu,ENST00000425934,;CEP250,missense_variant,p.Lys48Glu,ENST00000425096,;CEP250,missense_variant,p.Lys534Glu,ENST00000342580,;CEP250,missense_variant,p.Lys534Glu,ENST00000397527,;RP3-477O4.14,downstream_gene_variant,,ENST00000416260,;RP3-477O4.14,downstream_gene_variant,,ENST00000444933,;RP3-477O4.14,downstream_gene_variant,,ENST00000453914,;CEP250,intron_variant,,ENST00000461386,;CEP250,downstream_gene_variant,,ENST00000474829,;	2320	69	98	SUCCESS
SAMHD1	25939	.	GRCh37	20	35533779	35533780	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	227	39	109	0	ENST00000262878.4:c.1397dup	p.Ile468AspfsTer2	p.I468Dfs*2	ENST00000262878	NM_015474.3	466	ata/atTa	0	.	.	.	.	.	A	I/IX	protein_coding	YES	CCDS13288.1	1397-1398	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCTTTATTTG	NONE	.	.	hmmpanther:PTHR11373:SF4,hmmpanther:PTHR11373,Superfamily_domains:SSF109604	.	.	ENSP00000262878	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000262878	Transcript	1	.	ENSG00000101347	15925	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAMH1_HUMAN	SAMHD1	HGNC	A6NDZ3_HUMAN	.	UPI0000035DA0	insertion	SAMHD1,frameshift_variant,p.Ile468AspfsTer2,ENST00000262878,;SAMHD1,non_coding_transcript_exon_variant,,ENST00000465985,;	1597-1598	109	266	SUCCESS
TTI1	9675	.	GRCh37	20	36641091	36641091	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	68	92	0	ENST00000373447.3:c.1128A>C	p.Glu376Asp	p.E376D	ENST00000373447		376	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS13300.1	1128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTTTCTGA	NONE	.	.	PIRSF_domain:PIRSF005250,Gene3D:1.25.10.10,hmmpanther:PTHR18460	.	.	ENSP00000362547	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000373448	Transcript	.	.	ENSG00000101407	29029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious(0.01)	.	TTI1_HUMAN	TTI1	HGNC	D6W4K3_HUMAN	.	UPI000012DB27	SNV	TTI1,missense_variant,p.Glu376Asp,ENST00000449821,;TTI1,missense_variant,p.Glu376Asp,ENST00000373447,;TTI1,missense_variant,p.Glu376Asp,ENST00000373448,;TTI1,intron_variant,,ENST00000487362,;	1367	92	172	SUCCESS
CDC25B	994	.	GRCh37	20	3783772	3783772	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs146556613	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	32	113	0	ENST00000245960.5:c.1277del	p.Gly426AlafsTer11	p.G426Afs*11	ENST00000245960	NM_021873.2	425	acG/ac	0	A:0.0014	A:0.0053	.	A:0.0014	.	-	T/X	protein_coding	YES	CCDS13067.1	1275	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGACGGGCAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10828:SF46,hmmpanther:PTHR10828,Gene3D:3.40.250.10,SMART_domains:SM00450,Superfamily_domains:SSF52821,Prints_domain:PR00716	A:0	A:0	ENSP00000245960	A:0	13/16	.	.	.	.	.	.	.	.	rs146556613	13/16	PASS	ENST00000245960	Transcript	.	A:0.0016	ENSG00000101224	1726	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	MPIP2_HUMAN	CDC25B	HGNC	D3DVY6_HUMAN,B3KS38_HUMAN	.	UPI000012F474	deletion	CDC25B,frameshift_variant,p.Gly385AlafsTer11,ENST00000340833,;CDC25B,frameshift_variant,p.Gly412AlafsTer11,ENST00000439880,;CDC25B,frameshift_variant,p.Gly335AlafsTer11,ENST00000379598,;CDC25B,frameshift_variant,p.Gly362AlafsTer11,ENST00000344256,;CDC25B,frameshift_variant,p.Gly426AlafsTer11,ENST00000245960,;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,non_coding_transcript_exon_variant,,ENST00000480816,;CDC25B,non_coding_transcript_exon_variant,,ENST00000468979,;CDC25B,non_coding_transcript_exon_variant,,ENST00000495915,;	1972	113	150	SUCCESS
TOX2	84969	.	GRCh37	20	42574579	42574579	+	synonymous_variant	Silent	SNP	C	C	T	rs201898502	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	44	0	ENST00000358131.5:c.27C>T	p.Val9=	p.V9=	ENST00000358131	NM_001098798.1	9	gtC/gtT	0	T:0.0003	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS46603.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCGCGGG	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000344724	T:0	.	.	.	.	.	.	.	.	.	rs201898502	.	PASS	ENST00000341197	Transcript	.	T:0.0002	ENSG00000124191	16095	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TOX2_HUMAN	TOX2	HGNC	.	.	UPI000040F535	SNV	TOX2,synonymous_variant,p.%3D,ENST00000358131,;TOX2,intron_variant,,ENST00000423191,;TOX2,intron_variant,,ENST00000372999,;TOX2,intron_variant,,ENST00000341197,;	.	44	52	SUCCESS
MC3R	4159	.	GRCh37	20	54823965	54823965	+	synonymous_variant	Silent	SNP	A	A	G	rs779044626	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	38	0	ENST00000243911.2:c.66A>G	p.Gln22=	p.Q22=	ENST00000243911	NM_019888.3	22	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS13449.2	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAAGCCCC	NONE	byFrequency	.	hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01061	.	.	ENSP00000243911	.	1/1	.	.	.	.	.	.	.	.	rs779044626	1/1	PASS	ENST00000243911	Transcript	1	.	ENSG00000124089	6931	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MC3R_HUMAN	MC3R	HGNC	.	.	UPI0000E5A34B	SNV	MC3R,synonymous_variant,p.%3D,ENST00000243911,;	178	38	69	SUCCESS
MC3R	4159	.	GRCh37	20	54823996	54823996	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770261378	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	38	0	ENST00000243911.2:c.97G>A	p.Ala33Thr	p.A33T	ENST00000243911	NM_019888.3	33	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13449.2	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCCTTC	NONE	.	.	hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01061	.	.	ENSP00000243911	.	1/1	.	.	.	.	.	.	.	.	CM074934,rs770261378,COSM3379091	1/1	PASS	ENST00000243911	Transcript	1	.	ENSG00000124089	6931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,1	.	.	benign(0.002)	.	tolerated(0.64)	0,0,1	MC3R_HUMAN	MC3R	HGNC	.	.	UPI0000E5A34B	SNV	MC3R,missense_variant,p.Ala33Thr,ENST00000243911,;	209	38	74	SUCCESS
TRAPPC10	7109	.	GRCh37	21	45479359	45479359	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	52	0	ENST00000291574.4:c.790+266del		p.*264*	ENST00000291574	NM_003274.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13704.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGTCCTTTCCA	NONE	.	.	.	.	.	ENSP00000291574	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291574	Transcript	.	.	ENSG00000160218	11868	2	.	MODIFIER	6/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPC10_HUMAN	TRAPPC10	HGNC	Q76NH5_HUMAN	.	UPI0000129E26	deletion	TRAPPC10,frameshift_variant,p.Phe269SerfsTer56,ENST00000380221,;TRAPPC10,intron_variant,,ENST00000291574,;TRAPPC10,intron_variant,,ENST00000422875,;	.	52	50	SUCCESS
DEPDC5	9681	.	GRCh37	22	32241108	32241108	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	36	0	ENST00000400246.1:c.2906A>G	p.Tyr969Cys	p.Y969C	ENST00000400246		969	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46692.1	2879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTATGGGG	NONE	.	.	hmmpanther:PTHR13179	.	.	ENSP00000371546	.	29/42	.	.	.	.	.	.	.	.	.	29/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,missense_variant,p.Tyr891Cys,ENST00000382105,;DEPDC5,missense_variant,p.Tyr969Cys,ENST00000266091,;DEPDC5,missense_variant,p.Tyr960Cys,ENST00000400248,;DEPDC5,missense_variant,p.Tyr960Cys,ENST00000382112,;DEPDC5,missense_variant,p.Tyr969Cys,ENST00000400246,;DEPDC5,missense_variant,p.Tyr969Cys,ENST00000382111,;DEPDC5,missense_variant,p.Tyr367Cys,ENST00000433147,;DEPDC5,missense_variant,p.Tyr891Cys,ENST00000535622,;DEPDC5,missense_variant,p.Tyr960Cys,ENST00000400249,;DEPDC5,upstream_gene_variant,,ENST00000494060,;DEPDC5,missense_variant,p.Tyr321Cys,ENST00000448753,;DEPDC5,downstream_gene_variant,,ENST00000471914,;DEPDC5,downstream_gene_variant,,ENST00000490731,;	2949	36	58	SUCCESS
ACO2	50	.	GRCh37	22	41903896	41903896	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147763800	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	40	101	0	ENST00000216254.4:c.275G>A	p.Arg92Gln	p.R92Q	ENST00000216254	NM_001098.2	92	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS14017.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGCCGG	NONE	byCluster	.	hmmpanther:PTHR11670:SF30,hmmpanther:PTHR11670,TIGRFAM_domain:TIGR01340,Gene3D:3.30.499.10,Pfam_domain:PF00330,Superfamily_domains:SSF53732	.	A:0	ENSP00000216254	.	3/18	.	.	.	.	.	.	.	.	rs147763800	3/18	PASS	ENST00000216254	Transcript	.	.	ENSG00000100412	118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious_low_confidence(0.02)	.	ACON_HUMAN	ACO2	HGNC	B4DZ08_HUMAN,B4DEC3_HUMAN	.	UPI000003CA3B	SNV	ACO2,missense_variant,p.Arg92Gln,ENST00000216254,;ACO2,missense_variant,p.Arg92Gln,ENST00000396512,;ACO2,non_coding_transcript_exon_variant,,ENST00000471094,;ACO2,non_coding_transcript_exon_variant,,ENST00000482208,;ACO2,upstream_gene_variant,,ENST00000478010,;	297	101	122	SUCCESS
CHST10	9486	.	GRCh37	2	101014387	101014387	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	78	0	ENST00000264249.3:c.410T>C	p.Val137Ala	p.V137A	ENST00000264249	NM_004854.4	137	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS2047.1	410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCACTTTC	NONE	.	.	Pfam_domain:PF03567,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF2	.	.	ENSP00000264249	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.573)	.	deleterious(0)	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,missense_variant,p.Val137Ala,ENST00000409046,;CHST10,missense_variant,p.Val185Ala,ENST00000542617,;CHST10,missense_variant,p.Val137Ala,ENST00000264249,;CHST10,missense_variant,p.Val137Ala,ENST00000409701,;CHST10,downstream_gene_variant,,ENST00000418201,;CHST10,downstream_gene_variant,,ENST00000420858,;CHST10,downstream_gene_variant,,ENST00000448989,;CHST10,downstream_gene_variant,,ENST00000421474,;CHST10,non_coding_transcript_exon_variant,,ENST00000484382,;	796	78	95	SUCCESS
MAP3K2	10746	.	GRCh37	2	128065257	128065257	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	107	0	ENST00000344908.5:c.1758C>G	p.Val586=	p.V586=	ENST00000344908	NM_006609.4	586	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS46404.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGACATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF37,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000387246	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000409947	Transcript	.	.	ENSG00000169967	6854	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K2_HUMAN	MAP3K2	HGNC	Q96K88_HUMAN,F8W6K3_HUMAN	.	UPI0000208C78	SNV	MAP3K2,synonymous_variant,p.%3D,ENST00000409947,;MAP3K2,synonymous_variant,p.%3D,ENST00000344908,;	2041	107	122	SUCCESS
LRP1B	53353	.	GRCh37	2	141812829	141812829	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	72	0	ENST00000389484.3:c.1409-1G>T		p.X470_splice	ENST00000389484	NM_018557.2	470		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2182.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACTACAA	NONE	.	.	.	.	.	ENSP00000374135	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	HIGH	9/90	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,splice_acceptor_variant,,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	.	72	72	SUCCESS
NEB	4703	.	GRCh37	2	152350375	152350375	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757420871	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	77	0	ENST00000172853.10:c.19018T>C	p.Tyr6340His	p.Y6340H	ENST00000172853		6340	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS54407.1	24586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTATAACA	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	175/182	.	.	.	.	.	.	.	.	rs757420871	175/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Tyr342His,ENST00000421461,;NEB,missense_variant,p.Tyr8196His,ENST00000397345,;NEB,missense_variant,p.Tyr8196His,ENST00000604864,;NEB,missense_variant,p.Tyr330His,ENST00000397337,;NEB,missense_variant,p.Tyr6340His,ENST00000409198,;NEB,missense_variant,p.Tyr8196His,ENST00000427231,;NEB,missense_variant,p.Tyr171His,ENST00000397336,;NEB,missense_variant,p.Tyr6340His,ENST00000172853,;NEB,missense_variant,p.Tyr8196His,ENST00000603639,;NEB,intron_variant,,ENST00000434685,;NEB,intron_variant,,ENST00000509223,;NEB,intron_variant,,ENST00000413693,;NEB,downstream_gene_variant,,ENST00000424585,;NEB,intron_variant,,ENST00000498015,;RIF1,intron_variant,,ENST00000457745,;RIF1,upstream_gene_variant,,ENST00000484077,;RIF1,intron_variant,,ENST00000454583,;NEB,upstream_gene_variant,,ENST00000497809,;	24789	77	89	SUCCESS
FAP	2191	.	GRCh37	2	163059608	163059608	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	83	0	ENST00000188790.4:c.1095C>A	p.Tyr365Ter	p.Y365*	ENST00000188790	NM_004460.2	365	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS33311.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGTAGTA	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171	.	.	ENSP00000188790	.	13/26	.	.	.	.	.	.	.	.	COSM337740	13/26	PASS	ENST00000188790	Transcript	.	.	ENSG00000078098	3590	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SEPR_HUMAN	FAP	HGNC	C9J131_HUMAN	.	UPI00000012A2	SNV	FAP,stop_gained,p.Tyr340Ter,ENST00000443424,;FAP,stop_gained,p.Tyr365Ter,ENST00000188790,;FAP,non_coding_transcript_exon_variant,,ENST00000465088,;FAP,upstream_gene_variant,,ENST00000465424,;FAP,upstream_gene_variant,,ENST00000422436,;	1303	83	89	SUCCESS
AOX1	316	.	GRCh37	2	201462122	201462122	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	35	0	ENST00000374700.2:c.203A>G	p.His68Arg	p.H68R	ENST00000374700	NM_001159.3	68	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33360.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCATCACC	NONE	.	.	PROSITE_profiles:PS51085,hmmpanther:PTHR11908,Gene3D:3.10.20.30,Pfam_domain:PF00111,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF54292	.	.	ENSP00000363832	.	4/35	.	.	.	.	.	.	.	.	.	4/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	deleterious(0.01)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.His43Arg,ENST00000454629,;AOX1,missense_variant,p.His68Arg,ENST00000374700,;	444	35	39	SUCCESS
AOX1	316	.	GRCh37	2	201515713	201515713	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1181179532	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	33	109	0	ENST00000374700.2:c.2864T>C	p.Met955Thr	p.M955T	ENST00000374700	NM_001159.3	955	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS33360.1	2864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACATGTACA	NONE	.	.	hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	.	.	ENSP00000363832	.	26/35	.	.	.	.	.	.	.	.	.	26/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.Met955Thr,ENST00000374700,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	3105	109	127	SUCCESS
NBEAL1	65065	.	GRCh37	2	204066340	204066340	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	52	166	0	ENST00000449802.1:c.7226A>G	p.Asp2409Gly	p.D2409G	ENST00000449802	NM_001114132.1	2409	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS46495.1	7226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGATGCAA	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000399903	.	49/55	.	.	.	.	.	.	.	.	.	49/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,missense_variant,p.Asp2409Gly,ENST00000449802,;NBEAL1,missense_variant,p.Asp424Gly,ENST00000414576,;	7559	166	199	SUCCESS
RASGRP3	25780	.	GRCh37	2	33749508	33749508	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	50	113	0	ENST00000402538.3:c.700C>A	p.Gln234Lys	p.Q234K	ENST00000402538	NM_170672.2	234	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS46256.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCAGCTC	NONE	.	.	Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,Pfam_domain:PF00617,hmmpanther:PTHR23113:SF178,hmmpanther:PTHR23113,PROSITE_profiles:PS50009	.	.	ENSP00000384192	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000403687	Transcript	.	.	ENSG00000152689	14545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	deleterious(0.03)	.	GRP3_HUMAN	RASGRP3	HGNC	C9K0P4_HUMAN,C9JWP0_HUMAN,C9JSS2_HUMAN,C9J9C9_HUMAN,C9IYA5_HUMAN	.	UPI0000074694	SNV	RASGRP3,missense_variant,p.Gln234Lys,ENST00000407811,;RASGRP3,missense_variant,p.Gln234Lys,ENST00000402538,;RASGRP3,missense_variant,p.Gln234Lys,ENST00000403687,;RASGRP3,downstream_gene_variant,,ENST00000444784,;RASGRP3,downstream_gene_variant,,ENST00000437184,;RASGRP3,downstream_gene_variant,,ENST00000442390,;RASGRP3,downstream_gene_variant,,ENST00000423159,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000477927,;RASGRP3,upstream_gene_variant,,ENST00000490150,;RASGRP3,upstream_gene_variant,,ENST00000419772,;	1440	113	141	SUCCESS
USP34	9736	.	GRCh37	2	61441503	61441503	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749516059	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	118	0	ENST00000398571.2:c.8374A>G	p.Ile2792Val	p.I2792V	ENST00000398571	NM_014709.3	2792	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42686.1	8374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTATTGCTG	NONE	byFrequency	.	.	.	.	ENSP00000381577	.	68/80	.	.	.	.	.	.	.	.	rs749516059	68/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	tolerated(0.3)	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,missense_variant,p.Ile552Val,ENST00000411912,;USP34,missense_variant,p.Ile2792Val,ENST00000398571,;USP34,intron_variant,,ENST00000467128,;USP34,intron_variant,,ENST00000476716,;USP34,intron_variant,,ENST00000472689,;USP34,downstream_gene_variant,,ENST00000472706,;USP34,intron_variant,,ENST00000463046,;USP34,downstream_gene_variant,,ENST00000490527,;	8451	118	144	SUCCESS
TET3	200424	.	GRCh37	2	74274165	74274165	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	50	0	ENST00000409262.3:c.716C>G	p.Ser239Cys	p.S239C	ENST00000409262	NM_144993.1	239	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS46339.1	716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCTCATT	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4	.	.	ENSP00000386869	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000409262	Transcript	.	.	ENSG00000187605	28313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.599)	.	deleterious(0.04)	.	TET3_HUMAN	TET3	HGNC	K9JJH7_HUMAN	.	UPI0000DD79F5	SNV	TET3,missense_variant,p.Ser239Cys,ENST00000409262,;TET3,missense_variant,p.Ser281Cys,ENST00000305799,;TET3,upstream_gene_variant,,ENST00000475405,;	716	50	62	SUCCESS
GCFC2	6936	.	GRCh37	2	75937765	75937765	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	42	0	ENST00000321027.3:c.217A>T	p.Ser73Cys	p.S73C	ENST00000321027	NM_003203.4	73	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1961.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTCGCCC	NONE	.	.	hmmpanther:PTHR12214:SF1,hmmpanther:PTHR12214	.	.	ENSP00000318690	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000321027	Transcript	.	.	ENSG00000005436	1317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious_low_confidence(0)	.	GCFC2_HUMAN	GCFC2	HGNC	B3KUM5_HUMAN,A4UHR0_HUMAN	.	UPI000013C96B	SNV	GCFC2,missense_variant,p.Ser73Cys,ENST00000321027,;GCFC2,missense_variant,p.Ser73Cys,ENST00000470503,;GCFC2,missense_variant,p.Ser73Cys,ENST00000541687,;GCFC2,missense_variant,p.Ser73Cys,ENST00000409857,;GCFC2,missense_variant,p.Ser73Cys,ENST00000442309,;GCFC2,upstream_gene_variant,,ENST00000472230,;	351	42	32	SUCCESS
ATG3	64422	.	GRCh37	3	112253022	112253022	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	29	0	ENST00000283290.5:c.863+94T>C		p.*288*	ENST00000283290	NM_022488.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2966.1	.	MUTECT|MUSE	.	AAGTTATAGCT	NONE	.	.	.	.	.	ENSP00000283290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000283290	Transcript	.	.	ENSG00000144848	20962	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATG3_HUMAN	ATG3	HGNC	C9JNW8_HUMAN	.	UPI0000073DB4	SNV	ATG3,3_prime_UTR_variant,,ENST00000402314,;ATG3,intron_variant,,ENST00000283290,;ATG3,downstream_gene_variant,,ENST00000492886,;ATG3,downstream_gene_variant,,ENST00000495756,;ATG3,intron_variant,,ENST00000494571,;ATG3,downstream_gene_variant,,ENST00000496423,;ATG3,downstream_gene_variant,,ENST00000467275,;	.	29	35	SUCCESS
POGLUT1	56983	.	GRCh37	3	119209506	119209506	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	91	0	ENST00000295588.4:c.906T>C	p.Tyr302=	p.Y302=	ENST00000295588	NM_152305.2	302	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS2988.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATCCACA	NONE	.	.	hmmpanther:PTHR12203,Pfam_domain:PF05686,SMART_domains:SM00672	.	.	ENSP00000295588	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000295588	Transcript	.	.	ENSG00000163389	22954	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGLT1_HUMAN	POGLUT1	HGNC	B4DJ97_HUMAN	.	UPI000003B0C3	SNV	POGLUT1,synonymous_variant,p.%3D,ENST00000295588,;POGLUT1,3_prime_UTR_variant,,ENST00000486607,;POGLUT1,3_prime_UTR_variant,,ENST00000497447,;POGLUT1,non_coding_transcript_exon_variant,,ENST00000473648,;	990	91	83	SUCCESS
UROC1	131669	.	GRCh37	3	126218975	126218975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	35	0	ENST00000290868.2:c.1168A>G	p.Ile390Val	p.I390V	ENST00000290868	NM_144639.2	390	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54636.1	1348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATGGCTG	NONE	.	.	HAMAP:MF_00577,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Pfam_domain:PF01175,Gene3D:1x87B01,Superfamily_domains:SSF111326	.	.	ENSP00000373073	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000383579	Transcript	.	.	ENSG00000159650	26444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.1)	.	HUTU_HUMAN	UROC1	HGNC	.	.	UPI0000480109	SNV	UROC1,missense_variant,p.Ile450Val,ENST00000383579,;UROC1,missense_variant,p.Ile390Val,ENST00000290868,;	1382	35	31	SUCCESS
MBNL1	4154	.	GRCh37	3	152174105	152174105	+	synonymous_variant	Silent	SNP	A	A	G	rs1553945384	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	88	212	0	ENST00000282486.6:c.1065A>G	p.Thr355=	p.T355=	ENST00000282486		355	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS3165.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACATCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7	.	.	ENSP00000282486	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000282486	Transcript	.	.	ENSG00000152601	6923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBNL1_HUMAN	MBNL1	HGNC	C9JCX1_HUMAN,C9J7P7_HUMAN	.	UPI000003B440	SNV	MBNL1,missense_variant,p.His286Arg,ENST00000485509,;MBNL1,missense_variant,p.His286Arg,ENST00000324196,;MBNL1,synonymous_variant,p.%3D,ENST00000545754,;MBNL1,synonymous_variant,p.%3D,ENST00000282486,;MBNL1,synonymous_variant,p.%3D,ENST00000493459,;MBNL1,synonymous_variant,p.%3D,ENST00000463374,;MBNL1,synonymous_variant,p.%3D,ENST00000465907,;MBNL1,synonymous_variant,p.%3D,ENST00000282488,;MBNL1,synonymous_variant,p.%3D,ENST00000324210,;MBNL1,synonymous_variant,p.%3D,ENST00000355460,;MBNL1,synonymous_variant,p.%3D,ENST00000485910,;MBNL1,intron_variant,,ENST00000478535,;MBNL1,intron_variant,,ENST00000498502,;MBNL1,intron_variant,,ENST00000357472,;MBNL1,intron_variant,,ENST00000492948,;MBNL1,intron_variant,,ENST00000464596,;RP11-362A9.3,downstream_gene_variant,,ENST00000463255,;MBNL1,downstream_gene_variant,,ENST00000460166,;MBNL1,upstream_gene_variant,,ENST00000497971,;	2907	212	268	SUCCESS
ARHGEF26	26084	.	GRCh37	3	153909105	153909105	+	synonymous_variant	Silent	SNP	A	A	G	rs370646022	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	48	0	ENST00000356448.4:c.1668A>G	p.Val556=	p.V556=	ENST00000356448	NM_001251962.1	556	gtA/gtG	0	G:0	.	.	.	.	G	V	protein_coding	YES	CCDS46938.1	1668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTATTGTC	NONE	byCluster	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	G:0.0001	ENSP00000348828	.	8/15	.	.	.	.	.	.	.	.	rs370646022,COSM582182,COSM582183	8/15	PASS	ENST00000356448	Transcript	.	.	ENSG00000114790	24490	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ARHGQ_HUMAN	ARHGEF26	HGNC	.	.	UPI00001410D0	SNV	ARHGEF26,synonymous_variant,p.%3D,ENST00000465093,;ARHGEF26,synonymous_variant,p.%3D,ENST00000356448,;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,synonymous_variant,p.%3D,ENST00000496710,;	1952	48	46	SUCCESS
ANKRD28	23243	.	GRCh37	3	15736711	15736711	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1183554841	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	233	103	262	0	ENST00000399451.2:c.1580A>G	p.Glu527Gly	p.E527G	ENST00000399451	NM_015199.3	527	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS46769.1	1580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTTCACTT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF22,hmmpanther:PTHR24158,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000382379	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000399451	Transcript	.	.	ENSG00000206560	29024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.27)	.	ANR28_HUMAN	ANKRD28	HGNC	.	.	UPI00004120FF	SNV	ANKRD28,missense_variant,p.Glu527Gly,ENST00000399451,;ANKRD28,missense_variant,p.Glu560Gly,ENST00000383777,;MIR3134,downstream_gene_variant,,ENST00000579433,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,missense_variant,p.Glu527Gly,ENST00000412318,;ANKRD28,missense_variant,p.Glu471Gly,ENST00000451422,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000462657,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000498524,;	1948	262	336	SUCCESS
RARRES1	5918	.	GRCh37	3	158415600	158415600	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759534219	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	62	232	0	ENST00000237696.5:c.752G>A	p.Arg251His	p.R251H	ENST00000237696	NM_206963.1	251	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS3184.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCGACAG	NONE	.	.	Pfam_domain:PF06907,Gene3D:3.10.450.10,PIRSF_domain:PIRSF500784,PIRSF_domain:PIRSF011132,Superfamily_domains:SSF54403	.	.	ENSP00000237696	.	6/6	.	.	.	.	.	.	.	.	rs759534219,COSM207365	6/6	PASS	ENST00000237696	Transcript	.	.	ENSG00000118849	9867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(0.99)	0,1	TIG1_HUMAN	RARRES1	HGNC	.	.	UPI000006E088	SNV	RARRES1,missense_variant,p.Arg251His,ENST00000237696,;RP11-379F4.7,upstream_gene_variant,,ENST00000607624,;RP11-379F4.6,downstream_gene_variant,,ENST00000606185,;RARRES1,downstream_gene_variant,,ENST00000462663,;	1033	232	240	SUCCESS
CLCN2	1181	.	GRCh37	3	184071906	184071907	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	98	26	62	0	ENST00000265593.4:c.1703dup	p.Gly569ArgfsTer51	p.G569Rfs*51	ENST00000265593	NM_004366.5	568	ctc/ctTc	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS3263.1	1703-1704	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCCGAGCTC	NONE	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF64,Gene3D:1otsB00	.	.	ENSP00000265593	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000265593	Transcript	.	.	ENSG00000114859	2020	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLCN2_HUMAN	CLCN2	HGNC	.	.	UPI000013D645	insertion	CLCN2,frameshift_variant,p.Gly525ArgfsTer51,ENST00000434054,;CLCN2,frameshift_variant,p.Gly552ArgfsTer51,ENST00000344937,;CLCN2,frameshift_variant,p.Gly569ArgfsTer51,ENST00000265593,;CLCN2,frameshift_variant,p.Gly569ArgfsTer51,ENST00000457512,;CLCN2,3_prime_UTR_variant,,ENST00000423355,;EIF2B5,intron_variant,,ENST00000444495,;CLCN2,downstream_gene_variant,,ENST00000475279,;CLCN2,3_prime_UTR_variant,,ENST00000430397,;CLCN2,upstream_gene_variant,,ENST00000491162,;CLCN2,downstream_gene_variant,,ENST00000465231,;CLCN2,downstream_gene_variant,,ENST00000485667,;	1875-1876	62	124	SUCCESS
PAK2	5062	.	GRCh37	3	196509525	196509525	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs774861902	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	51	171	0	ENST00000327134.3:c.8A>C	p.Asp3Ala	p.D3A	ENST00000327134	NM_002577.4	3	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS3321.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGATAACG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250	.	.	ENSP00000314067	.	2/15	.	.	.	.	.	.	.	.	rs774861902	2/15	PASS	ENST00000327134	Transcript	.	.	ENSG00000180370	8591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious_low_confidence(0)	.	PAK2_HUMAN	PAK2	HGNC	H9XFB4_HUMAN	.	UPI0000141B02	SNV	PAK2,missense_variant,p.Asp3Ala,ENST00000327134,;RNU6-42P,downstream_gene_variant,,ENST00000384165,;	330	172	193	SUCCESS
LRRC2	79442	.	GRCh37	3	46586621	46586621	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	45	77	0	ENST00000296144.3:c.248C>G	p.Thr83Ser	p.T83S	ENST00000296144		83	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS2741.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAGTGTTC	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF467	.	.	ENSP00000379241	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000395905	Transcript	.	.	ENSG00000163827	14676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	LRRC2_HUMAN	LRRC2	HGNC	.	.	UPI00000362F5	SNV	LRRC2,missense_variant,p.Thr83Ser,ENST00000296144,;LRRC2,missense_variant,p.Thr83Ser,ENST00000395905,;LRRC2,downstream_gene_variant,,ENST00000496388,;	641	77	121	SUCCESS
GMPPB	29925	.	GRCh37	3	49759883	49759883	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	70	0	ENST00000308388.6:c.622del	p.Tyr208MetfsTer29	p.Y208Mfs*29	ENST00000308388	NM_013334.3	208	Tat/at	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS2802.1	622	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCATATAGCT	NONE	.	.	Superfamily_domains:SSF53448,Pfam_domain:PF00483,Gene3D:3.90.550.10,hmmpanther:PTHR22572:SF75,hmmpanther:PTHR22572	.	.	ENSP00000309092	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000308375	Transcript	.	.	ENSG00000173540	22932	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GMPPB_HUMAN	GMPPB	HGNC	.	.	UPI000013ED26	deletion	GMPPB,frameshift_variant,p.Tyr208MetfsTer29,ENST00000308375,;GMPPB,frameshift_variant,p.Tyr208MetfsTer29,ENST00000480687,;GMPPB,frameshift_variant,p.Tyr208MetfsTer29,ENST00000308388,;AMIGO3,5_prime_UTR_variant,,ENST00000535833,;RNF123,downstream_gene_variant,,ENST00000327697,;RNF123,downstream_gene_variant,,ENST00000433785,;IP6K1,downstream_gene_variant,,ENST00000460540,;AMIGO3,upstream_gene_variant,,ENST00000320431,;IP6K1,downstream_gene_variant,,ENST00000321599,;IP6K1,downstream_gene_variant,,ENST00000395238,;IP6K1,downstream_gene_variant,,ENST00000468463,;RNF123,downstream_gene_variant,,ENST00000497099,;GMPPB,downstream_gene_variant,,ENST00000481959,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000498376,;RNF123,downstream_gene_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000487805,;IP6K1,downstream_gene_variant,,ENST00000495798,;RNF123,downstream_gene_variant,,ENST00000457726,;	847	70	82	SUCCESS
KCTD6	200845	.	GRCh37	3	58487150	58487158	+	inframe_deletion	In_Frame_Del	DEL	GACACCAGA	GACACCAGA	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	GACACCAGA	GACACCAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	127	36	179	0	ENST00000355076.6:c.508_516del	p.Thr170_Asp172del	p.T170_D172del	ENST00000355076	NM_153331.3	169	GACACCAGA/-	0	.	.	.	.	.	-	DTR/-	protein_coding	YES	CCDS2891.1	505-513	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGATGGACACCAGAGACTG	NONE	.	.	hmmpanther:PTHR14499:SF10,hmmpanther:PTHR14499	.	.	ENSP00000347188	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355076	Transcript	.	.	ENSG00000168301	22235	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCTD6_HUMAN	KCTD6	HGNC	F5H7I0_HUMAN	.	UPI00000717C0	deletion	KCTD6,inframe_deletion,p.Thr170_Asp172del,ENST00000355076,;KCTD6,inframe_deletion,p.Thr170_Asp172del,ENST00000404589,;KCTD6,inframe_deletion,p.Thr170_Asp172del,ENST00000490264,;ACOX2,downstream_gene_variant,,ENST00000459701,;ACOX2,downstream_gene_variant,,ENST00000302819,;KCTD6,downstream_gene_variant,,ENST00000491093,;KCTD6,downstream_gene_variant,,ENST00000479179,;ACOX2,downstream_gene_variant,,ENST00000481527,;KCTD6,downstream_gene_variant,,ENST00000479470,;ACOX2,downstream_gene_variant,,ENST00000467738,;ACOX2,downstream_gene_variant,,ENST00000460921,;	1488-1496	179	163	SUCCESS
ARL6IP5	10550	.	GRCh37	3	69134210	69134210	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	61	0	ENST00000273258.3:c.12T>A	p.Asn4Lys	p.N4K	ENST00000273258	NM_006407.3	4	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2912.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAATATCGC	NONE	.	.	Pfam_domain:PF03208,hmmpanther:PTHR12859,hmmpanther:PTHR12859:SF2	.	.	ENSP00000273258	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000273258	Transcript	.	.	ENSG00000144746	16937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.05)	.	PRAF3_HUMAN	ARL6IP5	HGNC	F8WF90_HUMAN,B4DZZ0_HUMAN	.	UPI0000074031	SNV	ARL6IP5,missense_variant,p.Asn4Lys,ENST00000273258,;ARL6IP5,missense_variant,p.Asn4Lys,ENST00000478935,;UBA3,upstream_gene_variant,,ENST00000361055,;UBA3,upstream_gene_variant,,ENST00000540295,;UBA3,upstream_gene_variant,,ENST00000415609,;UBA3,upstream_gene_variant,,ENST00000349511,;ARL6IP5,missense_variant,p.Asn4Lys,ENST00000484921,;ARL6IP5,missense_variant,p.Asn4Lys,ENST00000485444,;ARL6IP5,non_coding_transcript_exon_variant,,ENST00000470936,;UBA3,upstream_gene_variant,,ENST00000485424,;UBA3,upstream_gene_variant,,ENST00000493957,;UBA3,upstream_gene_variant,,ENST00000465627,;UBA3,upstream_gene_variant,,ENST00000461934,;UBA3,upstream_gene_variant,,ENST00000465108,;UBA3,upstream_gene_variant,,ENST00000464605,;UBA3,upstream_gene_variant,,ENST00000466763,;	116	61	62	SUCCESS
CNTN3	5067	.	GRCh37	3	74414775	74414776	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	117	34	79	0	ENST00000263665.6:c.1024dup	p.Ser342LysfsTer39	p.S342Kfs*39	ENST00000263665	NM_020872.1	342	agc/aAgc	0	.	.	.	.	.	T	S/KX	protein_coding	YES	CCDS33790.1	1024-1025	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCGCTTGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF54,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000263665	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000263665	Transcript	.	.	ENSG00000113805	2173	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	insertion	CNTN3,frameshift_variant,p.Ser342LysfsTer39,ENST00000263665,;	1052-1053	79	151	SUCCESS
CHMP2B	25978	.	GRCh37	3	87276703	87276703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	138	0	ENST00000263780.4:c.31G>T	p.Asp11Tyr	p.D11Y	ENST00000263780	NM_014043.3	11	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2918.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGATGGT	NONE	.	.	hmmpanther:PTHR10476:SF9,hmmpanther:PTHR10476	.	.	ENSP00000263780	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000263780	Transcript	.	.	ENSG00000083937	24537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	deleterious(0.02)	.	CHM2B_HUMAN	CHMP2B	HGNC	B2RE76_HUMAN	.	UPI00000701F8	SNV	CHMP2B,missense_variant,p.Asp11Tyr,ENST00000494980,;CHMP2B,missense_variant,p.Asp11Tyr,ENST00000263780,;CHMP2B,5_prime_UTR_variant,,ENST00000471660,;MIR4795,upstream_gene_variant,,ENST00000584182,;CHMP2B,non_coding_transcript_exon_variant,,ENST00000472024,;	269	138	112	SUCCESS
TET2	54790	.	GRCh37	4	106158925	106158925	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	29	53	0	ENST00000380013.4:c.3409+417A>T		p.*1137*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAAGGTA	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000413648,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000513237,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,intron_variant,,ENST00000265149,;	.	53	55	SUCCESS
PRDM5	11107	.	GRCh37	4	121720828	121720828	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs923137742	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	71	233	0	ENST00000264808.3:c.1018A>T	p.Ile340Phe	p.I340F	ENST00000264808	NM_018699.2	340	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS3716.1	1018	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGATCATAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF17,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264808	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000264808	Transcript	1	.	ENSG00000138738	9349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	tolerated(0.59)	.	PRDM5_HUMAN	PRDM5	HGNC	.	.	UPI000013D572	SNV	PRDM5,missense_variant,p.Ile309Phe,ENST00000428209,;PRDM5,missense_variant,p.Ile340Phe,ENST00000264808,;PRDM5,missense_variant,p.Ile309Phe,ENST00000515109,;PRDM5,3_prime_UTR_variant,,ENST00000502409,;PRDM5,non_coding_transcript_exon_variant,,ENST00000503661,;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;	1259	233	149	SUCCESS
TMEM184C	55751	.	GRCh37	4	148555393	148555393	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	63	117	0	ENST00000296582.3:c.1125A>G	p.Leu375=	p.L375=	ENST00000296582	NM_018241.2	375	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3770.1	1125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTATTATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF10	.	.	ENSP00000296582	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000296582	Transcript	.	.	ENSG00000164168	25587	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T184C_HUMAN	TMEM184C	HGNC	.	.	UPI000013E360	SNV	TMEM184C,synonymous_variant,p.%3D,ENST00000296582,;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,downstream_gene_variant,,ENST00000322396,;PRMT10,downstream_gene_variant,,ENST00000541232,;TMEM184C,3_prime_UTR_variant,,ENST00000505999,;PRMT10,downstream_gene_variant,,ENST00000510269,;PRMT10,downstream_gene_variant,,ENST00000511687,;PRMT10,downstream_gene_variant,,ENST00000514886,;TMEM184C,downstream_gene_variant,,ENST00000506826,;	1699	117	189	SUCCESS
PRSS48	345062	.	GRCh37	4	152212306	152212306	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1394957142	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	43	0	ENST00000455694.2:c.688G>A	p.Gly230Ser	p.G230S	ENST00000455694	NM_183375.2	230	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS47145.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGGTGTA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24273,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000401328	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000455694	Transcript	.	.	ENSG00000189099	24635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.06)	.	PRS48_HUMAN	PRSS48	HGNC	.	.	UPI0000047B08	SNV	PRSS48,missense_variant,p.Gly230Ser,ENST00000455694,;PRSS48,missense_variant,p.Gly87Ser,ENST00000441586,;SH3D19,intron_variant,,ENST00000604030,;	690	44	73	SUCCESS
DCHS2	54798	.	GRCh37	4	155155901	155155901	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	97	0	ENST00000357232.4:c.8538G>T	p.Leu2846=	p.L2846=	ENST00000357232	NM_017639.3	2846	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3785.1	8538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCAGGTT	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,synonymous_variant,p.%3D,ENST00000357232,;	8538	97	105	SUCCESS
PROM1	8842	.	GRCh37	4	16077376	16077376	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	50	109	0	ENST00000447510.2:c.154A>G	p.Ile52Val	p.I52V	ENST00000447510	NM_006017.2	52	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47029.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATGGGTC	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3	.	.	ENSP00000426809	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000510224	Transcript	1	.	ENSG00000007062	9454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	tolerated(0.18)	.	PROM1_HUMAN	PROM1	HGNC	D6RIF3_HUMAN,D6RBI0_HUMAN	.	UPI000004ECD6	SNV	PROM1,missense_variant,p.Ile52Val,ENST00000508322,;PROM1,missense_variant,p.Ile52Val,ENST00000543373,;PROM1,missense_variant,p.Ile52Val,ENST00000539194,;PROM1,missense_variant,p.Ile52Val,ENST00000505450,;PROM1,missense_variant,p.Ile52Val,ENST00000508167,;PROM1,missense_variant,p.Ile52Val,ENST00000510224,;PROM1,missense_variant,p.Ile52Val,ENST00000447510,;PROM1,missense_variant,p.Ile52Val,ENST00000540805,;PROM1,downstream_gene_variant,,ENST00000514967,;PROM1,downstream_gene_variant,,ENST00000508940,;PROM1,downstream_gene_variant,,ENST00000502501,;PROM1,downstream_gene_variant,,ENST00000512304,;PROM1,downstream_gene_variant,,ENST00000504842,;PROM1,downstream_gene_variant,,ENST00000514693,;PROM1,downstream_gene_variant,,ENST00000513108,;PROM1,missense_variant,p.Ile10Val,ENST00000511153,;	403	109	140	SUCCESS
SPOCK3	50859	.	GRCh37	4	167675600	167675600	+	intron_variant	Intron	SNP	A	A	G	rs756583744	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	40	0	ENST00000357154.3:c.940+59T>C		p.*314*	ENST00000357154	NM_016950.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54817.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAAAATAAGT	NONE	byFrequency	.	.	.	.	ENSP00000349677	.	.	.	.	.	.	.	.	.	.	rs756583744	.	PASS	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,3_prime_UTR_variant,,ENST00000512648,;SPOCK3,intron_variant,,ENST00000357154,;SPOCK3,intron_variant,,ENST00000511531,;SPOCK3,intron_variant,,ENST00000357545,;SPOCK3,intron_variant,,ENST00000506886,;SPOCK3,intron_variant,,ENST00000511269,;SPOCK3,intron_variant,,ENST00000421836,;SPOCK3,intron_variant,,ENST00000510741,;SPOCK3,intron_variant,,ENST00000535728,;SPOCK3,intron_variant,,ENST00000541637,;SPOCK3,intron_variant,,ENST00000541354,;SPOCK3,intron_variant,,ENST00000512681,;SPOCK3,intron_variant,,ENST00000534949,;SPOCK3,intron_variant,,ENST00000502330,;SPOCK3,intron_variant,,ENST00000504953,;SPOCK3,downstream_gene_variant,,ENST00000510403,;SPOCK3,intron_variant,,ENST00000507137,;SPOCK3,intron_variant,,ENST00000502821,;SPOCK3,intron_variant,,ENST00000511905,;SPOCK3,intron_variant,,ENST00000505187,;SPOCK3,intron_variant,,ENST00000507370,;SPOCK3,downstream_gene_variant,,ENST00000515143,;	.	40	49	SUCCESS
TLR3	7098	.	GRCh37	4	187004611	187004611	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	51	143	0	ENST00000296795.3:c.1771A>G	p.Ile591Val	p.I591V	ENST00000296795	NM_003265.2	591	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3846.1	1771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCATCGAT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000296795	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000296795	Transcript	1	.	ENSG00000164342	11849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	tolerated(0.11)	.	TLR3_HUMAN	TLR3	HGNC	E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN	.	UPI0000049B3E	SNV	TLR3,missense_variant,p.Ile314Val,ENST00000504367,;TLR3,missense_variant,p.Ile591Val,ENST00000296795,;TLR3,downstream_gene_variant,,ENST00000513189,;TLR3,downstream_gene_variant,,ENST00000508051,;TLR3,non_coding_transcript_exon_variant,,ENST00000512264,;	1875	143	180	SUCCESS
FAT1	2195	.	GRCh37	4	187534378	187534378	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs375792265	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	68	0	ENST00000441802.2:c.9348del	p.Asp3117MetfsTer2	p.D3117Mfs*2	ENST00000441802	NM_005245.3	3116	gaA/ga	0	C:0	C:0	.	C:0	.	-	E/X	protein_coding	YES	CCDS47177.1	9348	INDELOCATOR*|VARSCANI*|PINDEL	.	CACATCTTCTAG	BUFFER|p.D3120N|c.9358G>A|3,BUFFER|p.D3120N|c.9358G>A|3	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	C:0	C:0.0001	ENSP00000406229	C:0	13/27	.	.	.	.	.	.	.	.	rs375792265	13/27	PASS	ENST00000441802	Transcript	.	C:0.0004	ENSG00000083857	3595	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0.002	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	deletion	FAT1,frameshift_variant,p.Asp3117MetfsTer2,ENST00000441802,;FAT1,upstream_gene_variant,,ENST00000508035,;	9558	68	89	SUCCESS
C4orf19	55286	.	GRCh37	4	37591958	37591958	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	55	154	0	ENST00000284437.6:c.281A>G	p.His94Arg	p.H94R	ENST00000284437	NM_018302.2	94	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS3442.1	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCATGCCT	NONE	.	.	hmmpanther:PTHR16106	.	.	ENSP00000284437	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000284437	Transcript	.	.	ENSG00000154274	25618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.66)	.	CD019_HUMAN	C4orf19	HGNC	.	.	UPI00000742D7	SNV	C4orf19,missense_variant,p.His94Arg,ENST00000284437,;C4orf19,missense_variant,p.His94Arg,ENST00000381980,;C4orf19,intron_variant,,ENST00000508175,;RELL1,downstream_gene_variant,,ENST00000314117,;RP11-36B15.1,upstream_gene_variant,,ENST00000503034,;	459	154	169	SUCCESS
AFAP1	60312	.	GRCh37	4	7780488	7780488	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	34	0	ENST00000358461.2:c.1645+1G>C		p.X549_splice	ENST00000358461	NM_198595.2	549		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47010.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACTCGAA	NONE	.	.	.	.	.	ENSP00000410689	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420658	Transcript	.	.	ENSG00000196526	24017	.	.	HIGH	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAP1_HUMAN	AFAP1	HGNC	.	.	UPI000048041E	SNV	AFAP1,splice_donor_variant,,ENST00000382543,;AFAP1,splice_donor_variant,,ENST00000420658,;AFAP1,splice_donor_variant,,ENST00000360265,;AFAP1,splice_donor_variant,,ENST00000358461,;AFAP1-AS1,non_coding_transcript_exon_variant,,ENST00000608442,;AFAP1,splice_donor_variant,,ENST00000513842,;AFAP1,splice_donor_variant,,ENST00000505447,;	.	34	36	SUCCESS
SLCO4C1	353189	.	GRCh37	5	101627231	101627231	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	222	85	223	0	ENST00000310954.6:c.435C>A	p.Gly145=	p.G145=	ENST00000310954	NM_180991.4	145	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34205.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGCCAGT	BUFFER|p.S149*|c.446C>G|3	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388:SF81,hmmpanther:PTHR11388,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix	.	.	ENSP00000309741	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000310954	Transcript	.	.	ENSG00000173930	23612	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO4C1_HUMAN	SLCO4C1	HGNC	Q63HP3_HUMAN	.	UPI00001C10B6	SNV	SLCO4C1,synonymous_variant,p.%3D,ENST00000310954,;	722	223	308	SUCCESS
SNX2	6643	.	GRCh37	5	122137803	122137803	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	54	159	0	ENST00000379516.2:c.485A>G	p.Tyr162Cys	p.Y162C	ENST00000379516	NM_003100.3	162	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34217.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATATAGAG	NONE	.	.	PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF31,hmmpanther:PTHR10555,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000368831	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000379516	Transcript	.	.	ENSG00000205302	11173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SNX2_HUMAN	SNX2	HGNC	B4DEK4_HUMAN	.	UPI0000140645	SNV	SNX2,missense_variant,p.Tyr161Cys,ENST00000505934,;SNX2,missense_variant,p.Tyr162Cys,ENST00000379516,;SNX2,missense_variant,p.Tyr45Cys,ENST00000514949,;SNX2,non_coding_transcript_exon_variant,,ENST00000510372,;SNX2,3_prime_UTR_variant,,ENST00000512394,;SNX2,non_coding_transcript_exon_variant,,ENST00000505854,;SNX2,upstream_gene_variant,,ENST00000511365,;	593	159	213	SUCCESS
GRAMD3	0	.	GRCh37	5	125801072	125801072	+	intron_variant	Intron	SNP	C	C	T	rs375803855	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	67	0	ENST00000513040.1:c.129-46C>T		p.*43*	ENST00000513040	NM_001146319.1			0	T:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS54891.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTACCTCTC	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000426120	.	.	.	.	.	.	.	.	.	.	rs375803855	.	PASS	ENST00000513040	Transcript	.	.	ENSG00000155324	24911	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAM3_HUMAN	GRAMD3	HGNC	Q9BYJ8_HUMAN,B7Z4W8_HUMAN	.	UPI0001914E8F	SNV	GRAMD3,5_prime_UTR_variant,,ENST00000511134,;GRAMD3,intron_variant,,ENST00000515200,;GRAMD3,intron_variant,,ENST00000502348,;GRAMD3,intron_variant,,ENST00000542322,;GRAMD3,intron_variant,,ENST00000543198,;GRAMD3,intron_variant,,ENST00000285689,;GRAMD3,intron_variant,,ENST00000513040,;GRAMD3,intron_variant,,ENST00000506445,;GRAMD3,intron_variant,,ENST00000544396,;RP11-517I3.1,intron_variant,,ENST00000512779,;RP11-517I3.1,intron_variant,,ENST00000515808,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000514932,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000505720,;GRAMD3,intron_variant,,ENST00000509882,;GRAMD3,intron_variant,,ENST00000513913,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000505441,;GRAMD3,intron_variant,,ENST00000514099,;GRAMD3,intron_variant,,ENST00000513978,;	.	67	82	SUCCESS
FBN2	2201	.	GRCh37	5	127685084	127685084	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	28	142	0	ENST00000262464.4:c.2944T>C	p.Cys982Arg	p.C982R	ENST00000262464	NM_001999.3	982	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS34222.1	2944	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCACTCGC	NONE	.	.	SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	29/71	.	.	.	.	.	.	.	.	.	29/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Cys982Arg,ENST00000262464,;FBN2,missense_variant,p.Cys982Arg,ENST00000508053,;FBN2,missense_variant,p.Cys949Arg,ENST00000508989,;	3919	142	171	SUCCESS
AFF4	27125	.	GRCh37	5	132219082	132219082	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs775632721	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	25	87	0	ENST00000265343.5:c.3314A>G	p.Tyr1105Cys	p.Y1105C	ENST00000265343	NM_014423.3	1105	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4164.1	3314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATAGAGG	NONE	byFrequency	.	hmmpanther:PTHR10528:SF15,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000265343	.	20/21	.	.	.	.	.	.	.	.	rs775632721	20/21	PASS	ENST00000265343	Transcript	1	.	ENSG00000072364	17869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.12)	.	AFF4_HUMAN	AFF4	HGNC	C9JCE0_HUMAN	.	UPI000006F558	SNV	AFF4,missense_variant,p.Tyr1105Cys,ENST00000265343,;	3694	87	124	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140736599	140736599	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs754361100	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	14	138	0	ENST00000571252.1:c.1833del	p.Ser612AlafsTer32	p.S612Afs*32	ENST00000571252	NM_018917.2	611	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS58979.1	1832	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAGTCCAGCG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	rs754361100	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	deletion	PCDHGA4,frameshift_variant,p.Ser612AlafsTer32,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	1832	138	136	SUCCESS
SLU7	10569	.	GRCh37	5	159833579	159833579	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	88	0	ENST00000297151.4:c.1183G>C	p.Glu395Gln	p.E395Q	ENST00000297151	NM_006425.4	395	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS4352.1	1183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCAGTCT	NONE	.	.	hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2,Pfam_domain:PF11708	.	.	ENSP00000297151	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000297151	Transcript	.	.	ENSG00000164609	16939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SLU7_HUMAN	SLU7	HGNC	E5RK41_HUMAN,E5RGM7_HUMAN	.	UPI000013E3CE	SNV	SLU7,missense_variant,p.Glu395Gln,ENST00000297151,;SLU7,non_coding_transcript_exon_variant,,ENST00000520841,;SLU7,non_coding_transcript_exon_variant,,ENST00000523219,;SLU7,upstream_gene_variant,,ENST00000521320,;	1571	88	95	SUCCESS
GABRA6	2559	.	GRCh37	5	161116701	161116701	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	35	208	0	ENST00000274545.5:c.589G>T	p.Glu197Ter	p.E197*	ENST00000274545		197	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4356.1	589	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAGAAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079	.	.	ENSP00000274545	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,stop_gained,p.Glu187Ter,ENST00000523217,;GABRA6,stop_gained,p.Glu137Ter,ENST00000520000,;GABRA6,stop_gained,p.Glu197Ter,ENST00000274545,;GABRA6,stop_gained,p.Glu144Ter,ENST00000517823,;GABRA6,stop_gained,p.Glu117Ter,ENST00000523691,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	1022	208	250	SUCCESS
KCNMB1	3779	.	GRCh37	5	169805835	169805835	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200287944	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	97	0	ENST00000274629.4:c.449G>T	p.Arg150Leu	p.R150L	ENST00000274629	NM_004137.3	150	cGc/cTc	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS4373.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGCTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF1,Pfam_domain:PF03185	T:0	.	ENSP00000274629	T:0.001	4/4	.	.	.	.	.	.	.	.	rs200287944	4/4	PASS	ENST00000274629	Transcript	1	T:0.0002	ENSG00000145936	6285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	T:0	deleterious(0)	.	KCMB1_HUMAN	KCNMB1	HGNC	.	.	UPI0000000DBA	SNV	KCNMB1,missense_variant,p.Arg150Leu,ENST00000274629,;KCNIP1,intron_variant,,ENST00000377360,;KCNMB1,downstream_gene_variant,,ENST00000521859,;KCNIP1,intron_variant,,ENST00000518527,;KCNIP1,intron_variant,,ENST00000517344,;	892	97	117	SUCCESS
TBC1D9B	23061	.	GRCh37	5	179292917	179292917	+	intron_variant	Intron	SNP	T	T	A	rs370892203	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	55	0	ENST00000356834.3:c.2915-29A>T		p.*972*	ENST00000356834	NM_198868.2			0	C:0	.	.	.	.	A	.	protein_coding	YES	CCDS43408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATGAATA	NONE	byCluster	.	.	.	C:0.0001	ENSP00000349291	.	.	.	.	.	.	.	.	.	.	rs370892203	.	PASS	ENST00000356834	Transcript	.	.	ENSG00000197226	29097	.	.	MODIFIER	19/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC9B_HUMAN	TBC1D9B	HGNC	.	.	UPI000034ECFF	SNV	TBC1D9B,intron_variant,,ENST00000355235,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;TBC1D9B,intron_variant,,ENST00000444477,;TBC1D9B,intron_variant,,ENST00000519746,;TBC1D9B,intron_variant,,ENST00000356834,;CTC-241N9.1,downstream_gene_variant,,ENST00000499601,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518085,;TBC1D9B,downstream_gene_variant,,ENST00000522180,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000520794,;TBC1D9B,intron_variant,,ENST00000521469,;C5orf45,upstream_gene_variant,,ENST00000519398,;TBC1D9B,downstream_gene_variant,,ENST00000522921,;TBC1D9B,downstream_gene_variant,,ENST00000520912,;TBC1D9B,downstream_gene_variant,,ENST00000519757,;	.	55	65	SUCCESS
TTC33	23548	.	GRCh37	5	40716422	40716422	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	24	82	0	ENST00000337702.4:c.614A>T	p.Asp205Val	p.D205V	ENST00000337702	NM_012382.2	205	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3931.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTCATAG	NONE	.	.	hmmpanther:PTHR15544:SF0,hmmpanther:PTHR15544	.	.	ENSP00000338533	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337702	Transcript	.	.	ENSG00000113638	29959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	TTC33_HUMAN	TTC33	HGNC	.	.	UPI000006D413	SNV	TTC33,missense_variant,p.Asp205Val,ENST00000337702,;TTC33,non_coding_transcript_exon_variant,,ENST00000511730,;TTC33,non_coding_transcript_exon_variant,,ENST00000504251,;TTC33,non_coding_transcript_exon_variant,,ENST00000503936,;	767	82	147	SUCCESS
MROH2B	133558	.	GRCh37	5	41018447	41018447	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1254484939	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	14	35	0	ENST00000399564.4:c.2759T>C	p.Ile920Thr	p.I920T	ENST00000399564	NM_173489.4	920	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS47202.1	2759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAATATCA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000382476	.	27/42	.	.	.	.	.	.	.	.	.	27/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.29)	.	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,missense_variant,p.Ile475Thr,ENST00000506092,;MROH2B,missense_variant,p.Ile920Thr,ENST00000399564,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	3210	35	89	SUCCESS
PPWD1	23398	.	GRCh37	5	64868010	64868010	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	13	97	0	ENST00000261308.5:c.866C>G	p.Ser289Ter	p.S289*	ENST00000261308	NM_001278927.1	289	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS3985.1	866	MUTECT|MUSE|VARSCANS	.	TTTTTCACCAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400	.	.	ENSP00000261308	.	5/11	.	.	.	.	.	.	.	.	COSM3617468	5/11	PASS	ENST00000261308	Transcript	.	.	ENSG00000113593	28954	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	PPWD1_HUMAN	PPWD1	HGNC	D6R9Q1_HUMAN,B4DWR9_HUMAN	.	UPI000004CAF3	SNV	PPWD1,stop_gained,p.Ser259Ter,ENST00000535264,;PPWD1,stop_gained,p.Ser289Ter,ENST00000261308,;PPWD1,stop_gained,p.Ser208Ter,ENST00000505380,;PPWD1,stop_gained,p.Ser133Ter,ENST00000538977,;PPWD1,downstream_gene_variant,,ENST00000502703,;PPWD1,stop_gained,p.Ser33Ter,ENST00000514172,;PPWD1,3_prime_UTR_variant,,ENST00000511908,;PPWD1,3_prime_UTR_variant,,ENST00000510930,;PPWD1,non_coding_transcript_exon_variant,,ENST00000507608,;PPWD1,upstream_gene_variant,,ENST00000511334,;PPWD1,downstream_gene_variant,,ENST00000503435,;PPWD1,downstream_gene_variant,,ENST00000508982,;PPWD1,downstream_gene_variant,,ENST00000515447,;	938	97	154	SUCCESS
SCAMP1	9522	.	GRCh37	5	77714644	77714644	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	77	237	0	ENST00000538629.1:c.389G>T	p.Gly130Val	p.G130V	ENST00000538629	NM_004866.4	130	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGGACCTT	NONE	.	.	hmmpanther:PTHR10687:SF8,hmmpanther:PTHR10687,Pfam_domain:PF04144	.	.	ENSP00000475496	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000538629	Transcript	.	.	ENSG00000085365	10563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.04)	.	.	SCAMP1	HGNC	U3KQ30_HUMAN	.	UPI00001B94D7	SNV	SCAMP1,missense_variant,p.Gly130Val,ENST00000538629,;SCAMP1,non_coding_transcript_exon_variant,,ENST00000509998,;SCAMP1,non_coding_transcript_exon_variant,,ENST00000508822,;SCAMP1,non_coding_transcript_exon_variant,,ENST00000339292,;SCAMP1,non_coding_transcript_exon_variant,,ENST00000320280,;SCAMP1,downstream_gene_variant,,ENST00000510030,;SCAMP1,downstream_gene_variant,,ENST00000511551,;	546	237	325	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79747408	79747408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	29	103	0	ENST00000338008.5:c.3487G>T	p.Asp1163Tyr	p.D1163Y	ENST00000338008	NM_014733.3	1163	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4050.1	3487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGATGAT	NONE	.	.	PIRSF_domain:PIRSF037289	.	.	ENSP00000337159	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,missense_variant,p.Asp1163Tyr,ENST00000338008,;ZFYVE16,missense_variant,p.Asp1163Tyr,ENST00000505560,;ZFYVE16,missense_variant,p.Asp1163Tyr,ENST00000510158,;ZFYVE16,downstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000511829,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,downstream_gene_variant,,ENST00000507548,;ZFYVE16,upstream_gene_variant,,ENST00000512907,;ZFYVE16,downstream_gene_variant,,ENST00000509558,;	3667	103	142	SUCCESS
ANKRD34B	340120	.	GRCh37	5	79854721	79854721	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	34	0	ENST00000338682.3:c.1118C>T	p.Ser373Phe	p.S373F	ENST00000338682	NM_001004441.2	373	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS34194.1	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGAATCA	NONE	.	.	hmmpanther:PTHR24156:SF1,hmmpanther:PTHR24156	.	.	ENSP00000339802	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000338682	Transcript	.	.	ENSG00000189127	33736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	AN34B_HUMAN	ANKRD34B	HGNC	.	.	UPI00003672FA	SNV	ANKRD34B,missense_variant,p.Ser373Phe,ENST00000338682,;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	1791	34	66	SUCCESS
CHD1	1105	.	GRCh37	5	98234033	98234033	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	71	0	ENST00000284049.3:c.1292A>C	p.Lys431Thr	p.K431T	ENST00000284049	NM_001270.2	431	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS34204.1	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTTTGGAA	NONE	.	.	Superfamily_domains:SSF52540,Superfamily_domains:SSF54160,SMART_domains:SM00298,Pfam_domain:PF00385,Gene3D:2.40.50.40,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS50013	.	.	ENSP00000284049	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	deleterious(0)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Lys431Thr,ENST00000284049,;	1442	71	91	SUCCESS
AIM1	0	.	GRCh37	6	106968297	106968297	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	46	124	0	ENST00000369066.3:c.1990A>G	p.Arg664Gly	p.R664G	ENST00000369066	NM_001624.2	664	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS34506.1	1990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAAGGCCA	NONE	.	.	hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818	.	.	ENSP00000358062	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.26)	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,missense_variant,p.Arg664Gly,ENST00000369066,;	2477	124	180	SUCCESS
AK9	221264	.	GRCh37	6	109935589	109935589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	106	0	ENST00000424296.2:c.1494A>T	p.Glu498Asp	p.E498D	ENST00000424296	NM_001145128.2	498	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS55048.1	1494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTTCTTC	NONE	.	.	hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,Superfamily_domains:SSF52540	.	.	ENSP00000410186	.	14/41	.	.	.	.	.	.	.	.	.	14/41	PASS	ENST00000424296	Transcript	.	.	ENSG00000155085	33814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.6)	.	KAD9_HUMAN	AK9	HGNC	E9PPU7_HUMAN,E9PPM3_HUMAN	.	UPI0001A48FC8	SNV	AK9,missense_variant,p.Glu498Asp,ENST00000424296,;AK9,missense_variant,p.Glu498Asp,ENST00000368948,;AK9,splice_region_variant,,ENST00000341338,;AK9,splice_region_variant,,ENST00000466992,;	1571	106	100	SUCCESS
ZUFSP	0	.	GRCh37	6	116977888	116977888	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	rs760363482	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	6	82	0	ENST00000368576.3:c.920C>G	p.Ser307Ter	p.S307*	ENST00000368576	NM_145062.2	307	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS5110.1	920	MUTECT|MUSE	.	CTAATGATTCC	NONE	.	.	hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF27	.	.	ENSP00000357565	.	5/10	.	.	.	.	.	.	.	.	rs760363482	5/10	PASS	ENST00000368576	Transcript	.	.	ENSG00000153975	21224	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZUFSP_HUMAN	ZUFSP	HGNC	.	.	UPI000006E8C6	SNV	ZUFSP,stop_gained,p.Ser307Ter,ENST00000368576,;ZUFSP,intron_variant,,ENST00000368573,;ZUFSP,non_coding_transcript_exon_variant,,ENST00000471919,;	1164	82	104	SUCCESS
NOL7	51406	.	GRCh37	6	13621055	13621062	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	AGTAAATC	AGTAAATC	-	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	AGTAAATC	AGTAAATC	.	.	.	.	.	.	.	.	.	.	.	.	.	282	70	340	0	ENST00000451315.2:c.771_*4del		p.*257*	ENST00000451315	NM_016167.3	257		0	.	.	.	.	.	-	LIYF/FX	protein_coding	YES	.	60-67	INDELOCATOR*|VARSCANI*|PINDEL	.	CTAAGAAGTAAATCAATGC	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000472493	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000600057	Transcript	.	.	ENSG00000268059	.	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AL441883.1	Clone_based_ensembl_gene	M0R2E0_HUMAN	.	UPI0001AE7239	deletion	AL441883.1,frameshift_variant,p.Leu20PhefsTer25,ENST00000600057,;NOL7,coding_sequence_variant,,ENST00000451315,;RANBP9,downstream_gene_variant,,ENST00000011619,;NOL7,downstream_gene_variant,,ENST00000420088,;RANBP9,downstream_gene_variant,,ENST00000539980,;NOL7,non_coding_transcript_exon_variant,,ENST00000474485,;RANBP9,downstream_gene_variant,,ENST00000469916,;	65-72	340	352	SUCCESS
SHPRH	257218	.	GRCh37	6	146264427	146264427	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	49	116	0	ENST00000275233.7:c.2090A>G	p.Lys697Arg	p.K697R	ENST00000275233		697	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS43513.2	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCTTCAGA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00176,SMART_domains:SM00249,SMART_domains:SM00487,Superfamily_domains:SSF57903	.	.	ENSP00000356475	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.28)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.Lys697Arg,ENST00000275233,;SHPRH,missense_variant,p.Lys697Arg,ENST00000438092,;SHPRH,missense_variant,p.Lys697Arg,ENST00000367505,;SHPRH,missense_variant,p.Lys697Arg,ENST00000367503,;SHPRH,missense_variant,p.Lys586Arg,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;	2355	116	145	SUCCESS
RAET1G	353091	.	GRCh37	6	150240446	150240446	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1489274471	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	57	0	ENST00000367360.2:c.364C>A	p.Gln122Lys	p.Q122K	ENST00000367360	NM_001001788.2	122	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS43514.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGCAGGG	NONE	.	.	hmmpanther:PTHR16675:SF135,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452	.	.	ENSP00000356329	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000367360	Transcript	.	.	ENSG00000203722	16795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	RET1G_HUMAN	RAET1G	HGNC	J7HEM2_HUMAN	.	UPI00003B0CBD	SNV	RAET1G,missense_variant,p.Gln122Lys,ENST00000367360,;RAET1G,missense_variant,p.Gln122Lys,ENST00000479265,;RP11-244K5.8,non_coding_transcript_exon_variant,,ENST00000606915,;RAET1E-AS1,non_coding_transcript_exon_variant,,ENST00000605899,;RAET1E-AS1,non_coding_transcript_exon_variant,,ENST00000446954,;RAET1G,missense_variant,p.Gln122Lys,ENST00000367361,;	432	57	85	SUCCESS
WTAP	9589	.	GRCh37	6	160176075	160176075	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	53	108	0	ENST00000358372.4:c.623T>C	p.Ile208Thr	p.I208T	ENST00000358372	NM_004906.4	208	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS5266.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATCATCC	NONE	.	.	hmmpanther:PTHR15217,hmmpanther:PTHR15217:SF0	.	.	ENSP00000351141	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358372	Transcript	.	.	ENSG00000146457	16846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	deleterious(0)	.	FL2D_HUMAN	WTAP	HGNC	Q6AHX7_HUMAN	.	UPI0000070280	SNV	WTAP,missense_variant,p.Ile208Thr,ENST00000358372,;SOD2,intron_variant,,ENST00000546087,;	2380	108	140	SUCCESS
IGF2R	3482	.	GRCh37	6	160448307	160448307	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	84	258	0	ENST00000356956.1:c.737G>C	p.Gly246Ala	p.G246A	ENST00000356956	NM_000876.2	246	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS5273.1	737	RADIA|MUTECT|MUSE	.	TGTTGGCCAGC	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Pfam_domain:PF00878,Gene3D:2.70.130.10,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	6/48	.	.	.	.	.	.	.	.	.	6/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,missense_variant,p.Gly246Ala,ENST00000356956,;IGF2R,downstream_gene_variant,,ENST00000464636,;	885	258	238	SUCCESS
THBS2	7058	.	GRCh37	6	169632798	169632798	+	synonymous_variant	Silent	SNP	G	G	A	rs748776522	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	96	0	ENST00000366787.3:c.1893C>T	p.Pro631=	p.P631=	ENST00000366787	NM_003247.2	631	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34574.1	1893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGGGCTG	NONE	byFrequency	.	hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000355751	.	13/23	.	.	.	.	.	.	.	.	rs748776522	13/23	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,synonymous_variant,p.%3D,ENST00000366787,;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,downstream_gene_variant,,ENST00000461848,;	2143	96	81	SUCCESS
HIST1H4H	0	.	GRCh37	6	26285638	26285638	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	94	0	ENST00000289352.1:c.90C>T	p.Ile30=	p.I30=	ENST00000289352		30	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS4604.1	90	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTGATGCC	NONE	.	.	Prints_domain:PR00623,Superfamily_domains:SSF47113,SMART_domains:SM00803,SMART_domains:SM00417,Pfam_domain:PF00125,Gene3D:1.10.20.10,hmmpanther:PTHR10484	.	.	ENSP00000289352	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000289352	Transcript	.	.	ENSG00000158406	4788	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H4_HUMAN	HIST1H4H	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4H,synonymous_variant,p.%3D,ENST00000289352,;HIST1H4H,synonymous_variant,p.%3D,ENST00000377727,;	125	94	99	SUCCESS
GSTA5	221357	.	GRCh37	6	52697726	52697726	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	78	0	ENST00000284562.2:c.477C>G	p.His159Gln	p.H159Q	ENST00000284562	NM_153699.1	159	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS4946.1	477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTGAAT	NONE	.	.	Superfamily_domains:SSF47616,Pfam_domain:PF00043,Gene3D:1.20.1050.10,hmmpanther:PTHR11571:SF131,hmmpanther:PTHR11571,PROSITE_profiles:PS50405	.	.	ENSP00000360028	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000370989	Transcript	.	.	ENSG00000182793	19662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.84)	.	GSTA5_HUMAN	GSTA5	HGNC	.	.	UPI0000049038	SNV	GSTA5,missense_variant,p.His159Gln,ENST00000370989,;GSTA5,missense_variant,p.His159Gln,ENST00000284562,;GSTA5,non_coding_transcript_exon_variant,,ENST00000475052,;	507	78	83	SUCCESS
COL9A1	1297	.	GRCh37	6	70964697	70964697	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145698301	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	43	102	0	ENST00000357250.6:c.1634G>A	p.Arg545His	p.R545H	ENST00000357250	NM_001851.4	545	cGt/cAt	0	T:0.0005	T:0.0015	.	T:0	.	T	R/H	protein_coding	YES	CCDS4971.1	1634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACGGCCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023	T:0	T:0.0001	ENSP00000349790	T:0.001	24/38	.	.	.	.	.	.	.	.	rs145698301	24/38	PASS	ENST00000357250	Transcript	.	T:0.0008	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	T:0.001	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Arg302His,ENST00000370499,;COL9A1,missense_variant,p.Arg302His,ENST00000320755,;COL9A1,missense_variant,p.Arg545His,ENST00000357250,;COL9A1,non_coding_transcript_exon_variant,,ENST00000360859,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,upstream_gene_variant,,ENST00000447041,;COL9A1,non_coding_transcript_exon_variant,,ENST00000493682,;COL9A1,upstream_gene_variant,,ENST00000489861,;	1793	102	142	SUCCESS
CYB5R4	51167	.	GRCh37	6	84569458	84569458	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	72	0	ENST00000369681.5:c.-44T>C		p.*15*	ENST00000369681	NM_016230.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5000.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGTCTGGC	NONE	.	.	.	.	.	ENSP00000358695	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000369681	Transcript	.	.	ENSG00000065615	20147	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NB5R4_HUMAN	CYB5R4	HGNC	B2R7W7_HUMAN	.	UPI000056D3CE	SNV	CYB5R4,5_prime_UTR_variant,,ENST00000369681,;CYB5R4,5_prime_UTR_variant,,ENST00000369679,;RIPPLY2,downstream_gene_variant,,ENST00000369689,;RIPPLY2,downstream_gene_variant,,ENST00000369687,;	97	72	69	SUCCESS
KMT2E	55904	.	GRCh37	7	104715215	104715215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	57	128	1	ENST00000257745.4:c.682A>T	p.Arg228Trp	p.R228W	ENST00000257745	NM_018682.3	228	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS34723.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGGAAA	NONE	.	.	hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Arg228Trp,ENST00000495267,;KMT2E,missense_variant,p.Arg228Trp,ENST00000257745,;KMT2E,missense_variant,p.Arg228Trp,ENST00000476671,;KMT2E,missense_variant,p.Arg228Trp,ENST00000311117,;KMT2E,missense_variant,p.Arg86Trp,ENST00000478990,;KMT2E,missense_variant,p.Arg228Trp,ENST00000334877,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,missense_variant,p.Arg228Trp,ENST00000334884,;KMT2E,3_prime_UTR_variant,,ENST00000482560,;KMT2E,upstream_gene_variant,,ENST00000496191,;	1227	129	227	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117424330	117424330	+	synonymous_variant	Silent	SNP	A	A	G	rs1340710674	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	47	117	0	ENST00000160373.3:c.2247T>C	p.Tyr749=	p.Y749=	ENST00000160373	NM_033427.2	749	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS5774.1	2247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAATACAA	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000160373	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,synonymous_variant,p.%3D,ENST00000446636,;CTTNBP2,synonymous_variant,p.%3D,ENST00000160373,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	2339	117	198	SUCCESS
SCIN	85477	.	GRCh37	7	12666228	12666228	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	83	0	ENST00000297029.5:c.1001G>C	p.Gly334Ala	p.G334A	ENST00000297029	NM_001112706.2	334	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS47545.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGAGGTG	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,Pfam_domain:PF00626,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF82754,Prints_domain:PR00597	.	.	ENSP00000297029	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000297029	Transcript	.	.	ENSG00000006747	21695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	deleterious(0)	.	ADSV_HUMAN	SCIN	HGNC	Q8NBV9_HUMAN,Q75MG0_HUMAN	.	UPI000013C4DF	SNV	SCIN,missense_variant,p.Gly87Ala,ENST00000445618,;SCIN,missense_variant,p.Gly87Ala,ENST00000519209,;SCIN,missense_variant,p.Gly334Ala,ENST00000297029,;SCIN,downstream_gene_variant,,ENST00000518849,;SCIN,downstream_gene_variant,,ENST00000523729,;SCIN,non_coding_transcript_exon_variant,,ENST00000473722,;SCIN,downstream_gene_variant,,ENST00000486980,;SCIN,missense_variant,p.Gly334Ala,ENST00000341757,;SCIN,downstream_gene_variant,,ENST00000476649,;	1102	83	114	SUCCESS
ATP6V0A4	50617	.	GRCh37	7	138400553	138400553	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780225385	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	42	82	0	ENST00000310018.2:c.2213C>A	p.Thr738Lys	p.T738K	ENST00000310018	NM_020632.2	738	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS5849.1	2213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGTGTTT	NONE	.	.	hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000308122	.	20/22	.	.	.	.	.	.	.	.	rs780225385,COSM4153875	20/22	PASS	ENST00000310018	Transcript	.	.	ENSG00000105929	866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	VPP4_HUMAN	ATP6V0A4	HGNC	.	.	UPI000013CDFD	SNV	ATP6V0A4,missense_variant,p.Thr738Lys,ENST00000310018,;ATP6V0A4,missense_variant,p.Thr738Lys,ENST00000393054,;ATP6V0A4,missense_variant,p.Thr738Lys,ENST00000353492,;	2496	82	148	SUCCESS
UBE3C	9690	.	GRCh37	7	157013403	157013403	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	18	46	0	ENST00000348165.5:c.1935A>T	p.Pro645=	p.P645=	ENST00000348165	NM_014671.2	645	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34789.1	1935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGCATC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85	.	.	ENSP00000309198	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000348165	Transcript	.	.	ENSG00000009335	16803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE3C_HUMAN	UBE3C	HGNC	.	.	UPI000020E72A	SNV	UBE3C,synonymous_variant,p.%3D,ENST00000348165,;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,downstream_gene_variant,,ENST00000469336,;UBE3C,upstream_gene_variant,,ENST00000494532,;UBE3C,upstream_gene_variant,,ENST00000497368,;	2295	46	85	SUCCESS
TRA2A	29896	.	GRCh37	7	23545772	23545772	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765283544	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	64	0	ENST00000297071.4:c.755A>G	p.Tyr252Cys	p.Y252C	ENST00000297071	NM_013293.3	252	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5383.1	755	RADIA|MUTECT|MUSE|VARSCANS	.	AATCATAGTCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15241,hmmpanther:PTHR15241:SF3	.	.	ENSP00000297071	.	6/8	.	.	.	.	.	.	.	.	rs765283544	6/8	PASS	ENST00000297071	Transcript	.	.	ENSG00000164548	16645	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	TRA2A_HUMAN	TRA2A	HGNC	Q549U1_HUMAN,B4DUA9_HUMAN	.	UPI00001372AB	SNV	TRA2A,missense_variant,p.Tyr151Cys,ENST00000392502,;TRA2A,missense_variant,p.Tyr151Cys,ENST00000538367,;TRA2A,missense_variant,p.Tyr252Cys,ENST00000297071,;TRA2A,non_coding_transcript_exon_variant,,ENST00000497730,;TRA2A,downstream_gene_variant,,ENST00000474586,;TRA2A,non_coding_transcript_exon_variant,,ENST00000486934,;TRA2A,non_coding_transcript_exon_variant,,ENST00000482395,;TRA2A,downstream_gene_variant,,ENST00000494255,;TRA2A,upstream_gene_variant,,ENST00000475970,;	972	64	118	SUCCESS
SDK1	221935	.	GRCh37	7	4249794	4249794	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	21	0	ENST00000404826.2:c.5539G>C	p.Gly1847Arg	p.G1847R	ENST00000404826	NM_152744.3	1847	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS34590.1	5539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGGTAAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	38/45	.	.	.	.	.	.	.	.	.	38/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.14)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Gly1847Arg,ENST00000404826,;SDK1,missense_variant,p.Gly1827Arg,ENST00000389531,;SDK1,splice_region_variant,,ENST00000476701,;	5678	21	31	SUCCESS
FBXL18	80028	.	GRCh37	7	5529345	5529345	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	11	0	ENST00000382368.3:c.2000+1517C>G		p.*667*	ENST00000382368	NM_024963.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43546.1	.	MUTECT|MUSE	.	GCAGAGCTTGC	NONE	.	.	.	.	.	ENSP00000371805	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382368	Transcript	.	.	ENSG00000155034	21874	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FXL18_HUMAN	FBXL18	HGNC	.	.	UPI000020EA59	SNV	FBXL18,3_prime_UTR_variant,,ENST00000453700,;FBXL18,3_prime_UTR_variant,,ENST00000458142,;FBXL18,intron_variant,,ENST00000382368,;snoU13,downstream_gene_variant,,ENST00000458839,;FBXL18,intron_variant,,ENST00000415009,;	.	11	19	SUCCESS
FZD9	8326	.	GRCh37	7	72848989	72848989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1175866183	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	24	0	ENST00000344575.3:c.652G>A	p.Gly218Ser	p.G218S	ENST00000344575	NM_003508.2	218	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS5548.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGGCGTC	NONE	.	.	hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79	.	.	ENSP00000345785	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344575	Transcript	.	.	ENSG00000188763	4047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	tolerated(0.25)	.	FZD9_HUMAN	FZD9	HGNC	.	.	UPI000004EC98	SNV	FZD9,missense_variant,p.Gly218Ser,ENST00000344575,;	881	24	32	SUCCESS
MDH2	4191	.	GRCh37	7	75677457	75677457	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs377064742	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	17	0	ENST00000315758.5:c.-22C>T		p.*8*	ENST00000315758	NM_005918.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5581.1	.	MUTECT|MUSE|VARSCANS	.	CCAGTCGGTGC	NONE	.	.	.	.	.	ENSP00000327070	.	1/9	.	.	.	.	.	.	.	.	rs377064742	1/9	PASS	ENST00000315758	Transcript	.	.	ENSG00000146701	6971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDHM_HUMAN	MDH2	HGNC	Q75MT9_HUMAN,Q0QF37_HUMAN,G3XAL0_HUMAN	.	UPI000013DA68	SNV	MDH2,5_prime_UTR_variant,,ENST00000443006,;MDH2,5_prime_UTR_variant,,ENST00000315758,;MDH2,5_prime_UTR_variant,,ENST00000461263,;STYXL1,upstream_gene_variant,,ENST00000359697,;STYXL1,upstream_gene_variant,,ENST00000431581,;MDH2,upstream_gene_variant,,ENST00000432020,;STYXL1,upstream_gene_variant,,ENST00000340062,;STYXL1,upstream_gene_variant,,ENST00000451157,;STYXL1,upstream_gene_variant,,ENST00000248600,;STYXL1,upstream_gene_variant,,ENST00000360591,;STYXL1,upstream_gene_variant,,ENST00000460184,;MDH2,upstream_gene_variant,,ENST00000490105,;MDH2,non_coding_transcript_exon_variant,,ENST00000461665,;STYXL1,upstream_gene_variant,,ENST00000474328,;	73	17	27	SUCCESS
SAMD12	401474	.	GRCh37	8	119391939	119391939	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	55	0	ENST00000314727.4:c.323G>A	p.Gly108Glu	p.G108E	ENST00000314727	NM_207506.2	108	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS6325.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCCTGCA	NONE	.	.	Superfamily_domains:SSF47769,SMART_domains:SM00454,Pfam_domain:PF07647,Gene3D:1.10.150.50,hmmpanther:PTHR20843:SF2,hmmpanther:PTHR20843,PROSITE_profiles:PS50105	.	.	ENSP00000314173	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314727	Transcript	.	.	ENSG00000177570	31750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	SAM12_HUMAN	SAMD12	HGNC	E9PLP5_HUMAN	.	UPI000013F8F1	SNV	SAMD12,missense_variant,p.Gly108Glu,ENST00000314727,;SAMD12,missense_variant,p.Arg95Lys,ENST00000453675,;SAMD12,missense_variant,p.Gly100Glu,ENST00000524796,;SAMD12,missense_variant,p.Gly108Glu,ENST00000409003,;SAMD12,missense_variant,p.Gly123Glu,ENST00000526765,;SAMD12,missense_variant,p.Gly108Glu,ENST00000526328,;AC023590.1,intron_variant,,ENST00000430457,;SAMD12,upstream_gene_variant,,ENST00000527515,;SAMD12,missense_variant,p.Gly65Ser,ENST00000445741,;	460	55	92	SUCCESS
KIF13B	23303	.	GRCh37	8	29035027	29035027	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	55	0	ENST00000524189.1:c.789A>G	p.Thr263=	p.T263=	ENST00000524189	NM_015254.3	263	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS55217.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCTGTCTT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF338,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000427900	.	9/40	.	.	.	.	.	.	.	.	.	9/40	PASS	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,synonymous_variant,p.%3D,ENST00000521515,;KIF13B,synonymous_variant,p.%3D,ENST00000524189,;KIF13B,3_prime_UTR_variant,,ENST00000522355,;KIF13B,3_prime_UTR_variant,,ENST00000523968,;	828	55	65	SUCCESS
POLB	5423	.	GRCh37	8	42218871	42218871	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	75	0	ENST00000265421.4:c.609A>G	p.Glu203=	p.E203=	ENST00000265421	NM_002690.2	203	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS6129.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAATCAAC	NONE	.	.	hmmpanther:PTHR11276,Gene3D:3.30.460.10,Pfam_domain:PF14792,SMART_domains:SM00483,Superfamily_domains:SSF81301	.	.	ENSP00000265421	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000265421	Transcript	.	.	ENSG00000070501	9174	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLB_HUMAN	POLB	HGNC	Q6LBJ9_HUMAN,E5RJ55_HUMAN,E5RHZ4_HUMAN,B7Z1W5_HUMAN	.	UPI000013D61E	SNV	POLB,synonymous_variant,p.%3D,ENST00000518579,;POLB,synonymous_variant,p.%3D,ENST00000538005,;POLB,synonymous_variant,p.%3D,ENST00000520008,;POLB,synonymous_variant,p.%3D,ENST00000521290,;POLB,synonymous_variant,p.%3D,ENST00000518925,;POLB,synonymous_variant,p.%3D,ENST00000265421,;POLB,synonymous_variant,p.%3D,ENST00000517393,;POLB,downstream_gene_variant,,ENST00000532157,;POLB,3_prime_UTR_variant,,ENST00000524208,;POLB,3_prime_UTR_variant,,ENST00000522610,;POLB,3_prime_UTR_variant,,ENST00000519771,;POLB,non_coding_transcript_exon_variant,,ENST00000519524,;POLB,downstream_gene_variant,,ENST00000523465,;	779	75	86	SUCCESS
SLC10A5	347051	.	GRCh37	8	82606702	82606702	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	79	0	ENST00000518568.1:c.506C>G	p.Thr169Arg	p.T169R	ENST00000518568	NM_001010893.2	169	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS34915.1	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGTTTGA	NONE	.	.	hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF29,Pfam_domain:PF01758	.	.	ENSP00000428612	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000518568	Transcript	.	.	ENSG00000253598	22981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	tolerated(0.53)	.	NTCP5_HUMAN	SLC10A5	HGNC	.	.	UPI0000051F68	SNV	SLC10A5,missense_variant,p.Thr169Arg,ENST00000518568,;	1708	79	131	SUCCESS
NCBP1	4686	.	GRCh37	9	100431136	100431136	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	128	0	ENST00000375147.3:c.2025T>C	p.Asp675=	p.D675=	ENST00000375147	NM_002486.4	675	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS6728.1	2025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGATGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12412,Pfam_domain:PF09090,Superfamily_domains:SSF48371	.	.	ENSP00000364289	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000375147	Transcript	.	.	ENSG00000136937	7658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCBP1_HUMAN	NCBP1	HGNC	.	.	UPI0000112754	SNV	NCBP1,synonymous_variant,p.%3D,ENST00000375130,;NCBP1,synonymous_variant,p.%3D,ENST00000375147,;NCBP1,upstream_gene_variant,,ENST00000491445,;	2281	128	86	SUCCESS
NUP214	8021	.	GRCh37	9	134062705	134062705	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752474058	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	57	0	ENST00000359428.5:c.3449C>A	p.Thr1150Lys	p.T1150K	ENST00000359428	NM_005085.3	1150	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS6940.1	3449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAACACCTC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	25/36	.	.	.	.	.	.	.	.	rs752474058	25/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Thr1151Lys,ENST00000451030,;NUP214,missense_variant,p.Thr1150Lys,ENST00000359428,;NUP214,missense_variant,p.Thr1140Lys,ENST00000411637,;NUP214,upstream_gene_variant,,ENST00000483497,;NUP214,upstream_gene_variant,,ENST00000531600,;RP11-544A12.8,downstream_gene_variant,,ENST00000502188,;NUP214,non_coding_transcript_exon_variant,,ENST00000531929,;NUP214,upstream_gene_variant,,ENST00000465486,;NUP214,upstream_gene_variant,,ENST00000470765,;NUP214,upstream_gene_variant,,ENST00000528114,;NUP214,missense_variant,p.Thr3Lys,ENST00000453861,;NUP214,non_coding_transcript_exon_variant,,ENST00000525980,;NUP214,non_coding_transcript_exon_variant,,ENST00000524578,;NUP214,intron_variant,,ENST00000526346,;NUP214,upstream_gene_variant,,ENST00000525384,;	3593	58	46	SUCCESS
SNAPC3	6619	.	GRCh37	9	15423939	15423939	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	8	105	0	ENST00000380821.3:c.347A>T	p.Glu116Val	p.E116V	ENST00000380821	NM_001039697.1	116	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6478.1	347	MUTECT|MUSE	.	CGGTGAGGATC	NONE	.	.	hmmpanther:PTHR13421,hmmpanther:PTHR13421:SF16	.	.	ENSP00000370200	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000380821	Transcript	.	.	ENSG00000164975	11136	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.04)	.	deleterious(0.02)	.	SNPC3_HUMAN	SNAPC3	HGNC	Q5T284_HUMAN	.	UPI0000135B24	SNV	SNAPC3,missense_variant,p.Glu116Val,ENST00000421710,;SNAPC3,missense_variant,p.Glu116Val,ENST00000380821,;SNAPC3,non_coding_transcript_exon_variant,,ENST00000461041,;SNAPC3,missense_variant,p.Glu116Val,ENST00000467062,;SNAPC3,missense_variant,p.Glu116Val,ENST00000490969,;	523	105	129	SUCCESS
HAUS6	54801	.	GRCh37	9	19076617	19076617	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1307542515	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	144	334	0	ENST00000380502.3:c.1277A>G	p.Tyr426Cys	p.Y426C	ENST00000380502	NM_017645.4	426	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6489.1	1277	RADIA|MUTECT|MUSE	.	CAGGATACTGA	NONE	.	.	hmmpanther:PTHR16151	.	.	ENSP00000369871	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000380502	Transcript	.	.	ENSG00000147874	25948	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HAUS6_HUMAN	HAUS6	HGNC	Q5SYF9_HUMAN	.	UPI00000740C7	SNV	HAUS6,missense_variant,p.Tyr290Cys,ENST00000380496,;HAUS6,missense_variant,p.Tyr426Cys,ENST00000380502,;RNU6-264P,downstream_gene_variant,,ENST00000517134,;	1745	334	421	SUCCESS
SMARCA2	6595	.	GRCh37	9	2182157	2182157	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1203661729	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	60	0	ENST00000349721.2:c.4376A>G	p.His1459Arg	p.H1459R	ENST00000349721	NM_003070.3	1459	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS34977.1	4376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCATAAGT	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR10799:SF541,hmmpanther:PTHR10799,PROSITE_patterns:PS00633,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503	.	.	ENSP00000371638	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,missense_variant,p.His1459Arg,ENST00000382203,;SMARCA2,missense_variant,p.His123Arg,ENST00000382186,;SMARCA2,missense_variant,p.His1441Arg,ENST00000357248,;SMARCA2,missense_variant,p.His105Arg,ENST00000416751,;SMARCA2,missense_variant,p.His1459Arg,ENST00000349721,;SMARCA2,missense_variant,p.His105Arg,ENST00000382185,;SMARCA2,missense_variant,p.His147Arg,ENST00000302401,;SMARCA2,missense_variant,p.His145Arg,ENST00000423555,;SMARCA2,missense_variant,p.His1441Arg,ENST00000382194,;SMARCA2,missense_variant,p.His105Arg,ENST00000382183,;SMARCA2,missense_variant,p.His123Arg,ENST00000452193,;SMARCA2,missense_variant,p.His145Arg,ENST00000417599,;SMARCA2,missense_variant,p.His105Arg,ENST00000324954,;	4585	60	66	SUCCESS
UBAP2	55833	.	GRCh37	9	33948822	33948822	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	8	0	ENST00000360802.1:c.1057-237A>G		p.*353*	ENST00000360802	NM_018449.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6547.1	.	MUTECT|MUSE	.	AAATATTTGCC	NONE	.	.	.	.	.	ENSP00000368540	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	MODIFIER	12/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,5_prime_UTR_variant,,ENST00000379225,;UBAP2,intron_variant,,ENST00000379238,;UBAP2,intron_variant,,ENST00000379239,;UBAP2,intron_variant,,ENST00000418786,;UBAP2,intron_variant,,ENST00000421278,;UBAP2,intron_variant,,ENST00000449054,;UBAP2,intron_variant,,ENST00000412543,;UBAP2,intron_variant,,ENST00000539807,;UBAP2,intron_variant,,ENST00000360802,;SNORD121A,downstream_gene_variant,,ENST00000459386,;UBAP2,intron_variant,,ENST00000462799,;	.	8	10	SUCCESS
VPS13A	23230	.	GRCh37	9	79862174	79862174	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	.	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	103	251	0	ENST00000360280.3:c.1901-1G>T		p.X634_splice	ENST00000360280	NM_033305.2	634		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6655.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGTCTA	NONE	.	.	.	.	.	ENSP00000353422	.	.	.	.	.	.	.	.	.	.	COSM331657,COSM331658	.	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	HIGH	19/71	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,splice_acceptor_variant,,ENST00000357409,;VPS13A,splice_acceptor_variant,,ENST00000376634,;VPS13A,splice_acceptor_variant,,ENST00000376636,;VPS13A,splice_acceptor_variant,,ENST00000360280,;	.	251	214	SUCCESS
TMEM35	0	.	GRCh37	X	100333968	100333968	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	50	0	ENST00000372930.4:c.-24G>C		p.*8*	ENST00000372930	NM_021637.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14478.1	.	MUTECT|MUSE	.	GATTAGTTGGG	NONE	.	.	.	.	.	ENSP00000362021	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000372930	Transcript	.	.	ENSG00000126950	25864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM35_HUMAN	TMEM35	HGNC	.	.	UPI0000035FFB	SNV	TMEM35,5_prime_UTR_variant,,ENST00000372930,;TRMT2B-AS1,intron_variant,,ENST00000443801,;TMEM35,upstream_gene_variant,,ENST00000478351,;	260	50	44	SUCCESS
GPR64	0	.	GRCh37	X	19051754	19051754	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs900501617	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	244	319	0	ENST00000379869.3:c.281T>C	p.Ile94Thr	p.I94T	ENST00000379869	NM_001079858.2	94	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS43923.1	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTATAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011	.	.	ENSP00000369198	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000379869	Transcript	.	.	ENSG00000173698	4516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	tolerated_low_confidence(0.13)	.	GPR64_HUMAN	GPR64	HGNC	.	.	UPI000021246C	SNV	GPR64,missense_variant,p.Ile94Thr,ENST00000379869,;GPR64,missense_variant,p.Ile78Thr,ENST00000379878,;GPR64,missense_variant,p.Ile70Thr,ENST00000379876,;GPR64,missense_variant,p.Ile94Thr,ENST00000379873,;GPR64,missense_variant,p.Ile91Thr,ENST00000357991,;GPR64,missense_variant,p.Ile78Thr,ENST00000354791,;GPR64,intron_variant,,ENST00000340581,;GPR64,intron_variant,,ENST00000357544,;GPR64,intron_variant,,ENST00000360279,;GPR64,intron_variant,,ENST00000356606,;GPR64,non_coding_transcript_exon_variant,,ENST00000479496,;	445	319	382	SUCCESS
MAOA	4128	.	GRCh37	X	43571157	43571157	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	38	49	0	ENST00000338702.3:c.345A>G	p.Val115=	p.V115=	ENST00000338702	NM_000240.3	115	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS14260.1	345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTATGGAA	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF253,Pfam_domain:PF01593,Superfamily_domains:SSF51905,Prints_domain:PR00757	.	.	ENSP00000340684	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000338702	Transcript	.	.	ENSG00000189221	6833	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AOFA_HUMAN	MAOA	HGNC	Q5ULA9_HUMAN,Q5ULA3_HUMAN,Q5UL94_HUMAN,Q5UL91_HUMAN,Q53YE7_HUMAN	.	UPI0000125B99	SNV	MAOA,synonymous_variant,p.%3D,ENST00000338702,;MAOA,5_prime_UTR_variant,,ENST00000542639,;MAOA,non_coding_transcript_exon_variant,,ENST00000497485,;	468	49	68	SUCCESS
SMC1A	8243	.	GRCh37	X	53421753	53421753	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781980688	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	16	0	ENST00000322213.4:c.2918A>G	p.Tyr973Cys	p.Y973C	ENST00000322213	NM_001281463.1	973	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14352.1	2918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATAGATA	NONE	byFrequency	.	hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719	.	.	ENSP00000323421	.	19/25	.	.	.	.	.	.	.	.	rs781980688	19/25	PASS	ENST00000322213	Transcript	.	.	ENSG00000072501	11111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.01)	.	SMC1A_HUMAN	SMC1A	HGNC	.	.	UPI0000135A4D	SNV	SMC1A,missense_variant,p.Tyr70Cys,ENST00000470241,;SMC1A,missense_variant,p.Tyr973Cys,ENST00000322213,;	3046	16	16	SUCCESS
MIR223	407008	.	GRCh37	X	65238783	65238783	+	mature_miRNA_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	74	114	0	ENST00000385204.1:n.72A>G		p.*24*	ENST00000385204				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14383.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCAGTTTG	NONE	.	2797	.	.	.	ENSP00000363869	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374737	Transcript	.	.	ENSG00000155659	17032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSIG4_HUMAN	VSIG4	HGNC	.	.	UPI000006F146	SNV	VSIG4,downstream_gene_variant,,ENST00000455586,;VSIG4,downstream_gene_variant,,ENST00000412866,;VSIG4,downstream_gene_variant,,ENST00000374737,;VSIG4,downstream_gene_variant,,ENST00000427538,;MIR223,non_coding_transcript_exon_variant,,ENST00000385204,;	.	114	109	SUCCESS
SCD	6319	.	GRCh37	10	102114194	102114194	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772784459	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	42	0	ENST00000370355.2:c.452A>G	p.Tyr151Cys	p.Y151C	ENST00000370355	NM_005063.4	151	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7493.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTATGAAT	NONE	.	.	Pfam_domain:PF00487,hmmpanther:PTHR11351,hmmpanther:PTHR11351:SF25	.	.	ENSP00000359380	.	4/6	.	.	.	.	.	.	.	.	rs772784459	4/6	PASS	ENST00000370355	Transcript	.	.	ENSG00000099194	10571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	ACOD_HUMAN	SCD	HGNC	.	.	UPI00001252D2	SNV	SCD,missense_variant,p.Tyr151Cys,ENST00000370355,;	833	42	40	SUCCESS
C10orf32-ASMT	0	.	GRCh37	10	104620107	104620107	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	A	rs762780871	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	70	0	ENST00000299353.6:c.160C>A	p.Arg54=	p.R54=	ENST00000299353		54	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS7542.2	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCGAAAC	NONE	.	.	hmmpanther:PTHR31397	.	.	ENSP00000342331	.	2/5	.	.	.	.	.	.	.	.	rs762780871	2/5	PASS	ENST00000339834	Transcript	.	.	ENSG00000166275	23516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ032_HUMAN	C10orf32	HGNC	.	.	UPI000013E588	SNV	C10orf32,synonymous_variant,p.%3D,ENST00000339834,;C10orf32,synonymous_variant,p.%3D,ENST00000369883,;C10orf32-ASMT,synonymous_variant,p.%3D,ENST00000299353,;C10orf32,non_coding_transcript_exon_variant,,ENST00000478833,;	224	70	74	SUCCESS
GSTO1	9446	.	GRCh37	10	106019401	106019401	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	69	0	ENST00000369713.5:c.211C>G	p.Leu71Val	p.L71V	ENST00000369713	NM_004832.2	71	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS7555.1	211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCTGGTG	NONE	.	.	PROSITE_profiles:PS50404,hmmpanther:PTHR11260:SF132,hmmpanther:PTHR11260,Pfam_domain:PF13417,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000358727	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000369713	Transcript	.	.	ENSG00000148834	13312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.414)	.	deleterious(0.01)	.	GSTO1_HUMAN	GSTO1	HGNC	Q5TA02_HUMAN	.	UPI00000465CE	SNV	GSTO1,missense_variant,p.Leu43Val,ENST00000432659,;GSTO1,missense_variant,p.Leu43Val,ENST00000445155,;GSTO1,missense_variant,p.Leu43Val,ENST00000539281,;GSTO1,missense_variant,p.Leu71Val,ENST00000369713,;GSTO1,missense_variant,p.Leu71Val,ENST00000369710,;GSTO1,non_coding_transcript_exon_variant,,ENST00000470554,;GSTO1,non_coding_transcript_exon_variant,,ENST00000493946,;	405	69	91	SUCCESS
TTC40	0	.	GRCh37	10	134705879	134705879	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749206037	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	35	70	0	ENST00000368586.5:c.3262G>A	p.Asp1088Asn	p.D1088N	ENST00000368586	NM_001200049.2	1088	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS58101.1	3262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCGGCCG	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	25/58	.	.	.	.	.	.	.	.	rs749206037	25/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.06)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Asp1088Asn,ENST00000368582,;TTC40,missense_variant,p.Asp1088Asn,ENST00000368586,;	3363	70	72	SUCCESS
RSU1P2	100133308	.	GRCh37	10	45602743	45602743	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	14	0	ENST00000423875.1:n.694C>T		p.*232*	ENST00000423875				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGAGGAC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000423875	Transcript	.	.	ENSG00000232554	44391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RSU1P2	HGNC	.	.	.	SNV	RSU1P2,non_coding_transcript_exon_variant,,ENST00000423875,;CEP164P1,intron_variant,,ENST00000599308,;CEP164P1,intron_variant,,ENST00000602156,;RSU1P2,upstream_gene_variant,,ENST00000448600,;RSU1P2,intron_variant,,ENST00000437884,;	694	14	15	SUCCESS
GDF2	2658	.	GRCh37	10	48413718	48413718	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	72	0	ENST00000249598.1:c.1150T>C	p.Phe384Leu	p.F384L	ENST00000249598	NM_016204.1	384	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7219.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAACTTGA	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000249598	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.151)	.	tolerated(0.12)	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,missense_variant,p.Phe384Leu,ENST00000249598,;	1310	72	95	SUCCESS
WDFY4	57705	.	GRCh37	10	50014124	50014124	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	54	0	ENST00000325239.5:c.4722G>A	p.Leu1574=	p.L1574=	ENST00000325239	NM_020945.1	1574	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44385.1	4722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGGACCC	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	26/61	.	.	.	.	.	.	.	.	.	26/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,synonymous_variant,p.%3D,ENST00000325239,;WDFY4,synonymous_variant,p.%3D,ENST00000374161,;WDFY4,intron_variant,,ENST00000413659,;	4749	54	66	SUCCESS
CDH23	64072	.	GRCh37	10	73466828	73466828	+	intron_variant	Intron	SNP	A	A	T	rs1214388786	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	43	0	ENST00000224721.6:c.3121+22A>T		p.*1041*	ENST00000224721	NM_022124.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44430.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCACCTGT	NONE	.	4630	.	.	.	ENSP00000403151	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441508	Transcript	.	.	ENSG00000214688	20304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ105_HUMAN	C10orf105	HGNC	B1AVV1_HUMAN	.	UPI00001F8E63	SNV	CDH23,missense_variant,p.His1088Leu,ENST00000299366,;CDH23,intron_variant,,ENST00000442677,;CDH23,intron_variant,,ENST00000466757,;CDH23,intron_variant,,ENST00000224721,;C10orf105,downstream_gene_variant,,ENST00000398786,;C10orf105,downstream_gene_variant,,ENST00000441508,;	.	43	69	SUCCESS
DNAJB12	54788	.	GRCh37	10	74100799	74100799	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1235529625	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	28	63	0	ENST00000338820.3:c.689C>T	p.Ala230Val	p.A230V	ENST00000338820	NM_001002762.2	230	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7316.2	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGGCCTCA	NONE	.	.	hmmpanther:PTHR24077:SF233,hmmpanther:PTHR24077,Gene3D:1.10.287.110,Superfamily_domains:SSF46565	.	.	ENSP00000345575	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000338820	Transcript	.	.	ENSG00000148719	14891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.331)	.	deleterious(0.03)	.	.	DNAJB12	HGNC	Q659G2_HUMAN,J3KPS0_HUMAN	.	UPI0000E592BF	SNV	DNAJB12,missense_variant,p.Ala230Val,ENST00000394903,;DNAJB12,missense_variant,p.Ala196Val,ENST00000444643,;DNAJB12,missense_variant,p.Ala230Val,ENST00000338820,;DNAJB12,missense_variant,p.Ala97Val,ENST00000463786,;DNAJB12,5_prime_UTR_variant,,ENST00000461919,;DNAJB12,upstream_gene_variant,,ENST00000473051,;	839	63	74	SUCCESS
ADIRF-AS1	100133190	.	GRCh37	10	88729937	88729937	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs775179086	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	6	121	0	ENST00000609111.1:n.1132C>T		p.*378*	ENST00000609111				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7381.1	.	MUTECT|MUSE	.	TAAAAGCCACA	NONE	.	.	.	.	.	ENSP00000361083	.	.	.	.	.	.	.	.	.	.	rs775179086	.	PASS	ENST00000372013	Transcript	.	.	ENSG00000148671	24043	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADIRF_HUMAN	ADIRF	HGNC	Q5TBU5_HUMAN	.	UPI0000000C61	SNV	ADIRF,intron_variant,,ENST00000372013,;ADIRF,intron_variant,,ENST00000416348,;MMRN2,upstream_gene_variant,,ENST00000474994,;MMRN2,upstream_gene_variant,,ENST00000609457,;ADIRF-AS1,non_coding_transcript_exon_variant,,ENST00000609111,;ADIRF-AS1,non_coding_transcript_exon_variant,,ENST00000418273,;RP11-96C23.15,downstream_gene_variant,,ENST00000609363,;ADIRF-AS1,upstream_gene_variant,,ENST00000440490,;RP11-96C23.5,upstream_gene_variant,,ENST00000433214,;ADIRF,intron_variant,,ENST00000561504,;ADIRF-AS1,upstream_gene_variant,,ENST00000609170,;	.	121	113	SUCCESS
CYP2C8	1558	.	GRCh37	10	96798766	96798766	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs774216153	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	32	101	0	ENST00000371270.3:c.1179del	p.Val394CysfsTer20	p.V394Cfs*20	ENST00000371270	NM_000770.3	393	tcC/tc	0	.	A:0	.	A:0	.	-	S/X	protein_coding	YES	CCDS7438.1	1179	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGCACGGAAGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	A:0.001	.	ENSP00000360317	A:0	8/9	.	.	.	.	.	.	.	.	rs774216153,rs181052138	8/9	PASS	ENST00000371270	Transcript	1	A:0.0002	ENSG00000138115	2622	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	CP2C8_HUMAN	CYP2C8	HGNC	B7Z1F5_HUMAN	.	UPI0000128256	deletion	CYP2C8,frameshift_variant,p.Val394CysfsTer20,ENST00000371270,;CYP2C8,frameshift_variant,p.Val292CysfsTer20,ENST00000535898,;CYP2C8,downstream_gene_variant,,ENST00000539050,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,3_prime_UTR_variant,,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000531714,;	1274	101	147	SUCCESS
DSCAML1	57453	.	GRCh37	11	117375715	117375715	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	58	0	ENST00000321322.6:c.2286C>T	p.Ile762=	p.I762=	ENST00000321322	NM_020693.2	762	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS8384.1	2286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTAGATGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,synonymous_variant,p.%3D,ENST00000527706,;DSCAML1,synonymous_variant,p.%3D,ENST00000321322,;	2288	58	60	SUCCESS
OR4P4	81300	.	GRCh37	11	55406437	55406437	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	51	111	0	ENST00000314612.2:c.604G>T	p.Gly202Cys	p.G202C	ENST00000314612	NM_001004124.1	202	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS31504.1	604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGGCTTA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000324831	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314612	Transcript	.	.	ENSG00000181927	15180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR4P4_HUMAN	OR4P4	HGNC	.	.	UPI0000061E8A	SNV	OR4P4,missense_variant,p.Gly202Cys,ENST00000314612,;	604	111	143	SUCCESS
OR8U1	219417	.	GRCh37	11	56143638	56143638	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1590866177	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	9	102	1	ENST00000302270.1:c.539A>G	p.Asp180Gly	p.D180G	ENST00000302270	NM_001005204.1	180	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS41647.1	539	RADIA|MUTECT|VARSCANS	.	TTGTGATGACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF107,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000304188	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302270	Transcript	.	.	ENSG00000172199	19611	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR8U1_HUMAN	OR8U1	HGNC	.	.	UPI0000061EEF	SNV	OR8U1,missense_variant,p.Asp180Gly,ENST00000302270,;	539	103	91	SUCCESS
ANO1	55107	.	GRCh37	11	70033927	70033927	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759383865	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	88	0	ENST00000355303.5:c.2778G>T	p.Glu926Asp	p.E926D	ENST00000355303	NM_018043.5	926	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS44663.1	2778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGAAGGT	NONE	byFrequency	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13,Pfam_domain:PF04547	.	.	ENSP00000347454	.	26/26	.	.	.	.	.	.	.	.	rs759383865	26/26	PASS	ENST00000355303	Transcript	.	.	ENSG00000131620	21625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	ANO1_HUMAN	ANO1	HGNC	.	.	UPI000013CE03	SNV	ANO1,missense_variant,p.Glu635Asp,ENST00000531349,;ANO1,missense_variant,p.Glu926Asp,ENST00000538023,;ANO1,missense_variant,p.Glu780Asp,ENST00000398543,;ANO1,missense_variant,p.Glu780Asp,ENST00000530676,;ANO1,missense_variant,p.Glu926Asp,ENST00000355303,;ANO1-AS1,non_coding_transcript_exon_variant,,ENST00000524987,;ANO1,non_coding_transcript_exon_variant,,ENST00000525494,;	3083	88	72	SUCCESS
MYO7A	4647	.	GRCh37	11	76867076	76867076	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs376016858	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	37	62	0	ENST00000409709.3:c.409A>T	p.Ile137Phe	p.I137F	ENST00000409709	NM_000260.3	137	Att/Ttt	0	G:0	.	.	.	.	T	I/F	protein_coding	YES	CCDS53683.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATTGCT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	G:0.0001	ENSP00000386331	.	5/49	.	.	.	.	.	.	.	.	rs376016858	5/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	deleterious(0)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Ile137Phe,ENST00000409893,;MYO7A,missense_variant,p.Ile126Phe,ENST00000409619,;MYO7A,missense_variant,p.Ile137Phe,ENST00000409709,;MYO7A,missense_variant,p.Ile137Phe,ENST00000458637,;	681	62	67	SUCCESS
PRCP	5547	.	GRCh37	11	82536148	82536148	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765431937	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	80	0	ENST00000313010.3:c.1291C>A	p.Pro431Thr	p.P431T	ENST00000313010	NM_005040.2	431	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41695.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGTCTA	NONE	byFrequency	.	hmmpanther:PTHR11010:SF11,hmmpanther:PTHR11010,Pfam_domain:PF05577,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000377055	.	10/10	.	.	.	.	.	.	.	.	rs765431937	10/10	PASS	ENST00000393399	Transcript	.	.	ENSG00000137509	9344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCP_HUMAN	PRCP	HGNC	E9PR42_HUMAN,E9PQN3_HUMAN,E9PQB5_HUMAN,E9PLY4_HUMAN,E9PL85_HUMAN,E9PL49_HUMAN,E9PKN6_HUMAN,E9PIG4_HUMAN,B7Z7Q6_HUMAN,B3KR26_HUMAN	.	UPI00001FB052	SNV	PRCP,missense_variant,p.Pro431Thr,ENST00000313010,;PRCP,missense_variant,p.Pro326Thr,ENST00000535099,;PRCP,missense_variant,p.Pro452Thr,ENST00000393399,;PRCP,non_coding_transcript_exon_variant,,ENST00000525772,;PRCP,non_coding_transcript_exon_variant,,ENST00000532709,;	1382	80	85	SUCCESS
GOLGA2P5	55592	.	GRCh37	12	100551078	100551078	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	16	0	ENST00000537988.1:n.4511A>G		p.*1504*	ENST00000537988				0	.	.	.	.	.	C	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATGTGCA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408843	Transcript	.	.	ENSG00000221770	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC010203.1	Clone_based_ensembl_gene	.	.	.	SNV	AC010203.1,non_coding_transcript_exon_variant,,ENST00000408843,;RN7SL176P,downstream_gene_variant,,ENST00000580352,;GOLGA2P5,intron_variant,,ENST00000397112,;GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000545820,;GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000304813,;GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000537988,;GOLGA2P5,intron_variant,,ENST00000456437,;GOLGA2P5,intron_variant,,ENST00000266746,;GOLGA2P5,downstream_gene_variant,,ENST00000429462,;	39	16	14	SUCCESS
CORO1C	23603	.	GRCh37	12	109051082	109051082	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	62	0	ENST00000261401.3:c.748C>A	p.Pro250Thr	p.P250T	ENST00000261401	NM_014325.3	250	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9120.1	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCGGATTCC	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF10,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000261401	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000261401	Transcript	.	.	ENSG00000110880	2254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.22)	.	COR1C_HUMAN	CORO1C	HGNC	H0YHL7_HUMAN,F8VVB7_HUMAN,F8VV53_HUMAN,F8VTT6_HUMAN,F8VSA4_HUMAN,F8VRE9_HUMAN,B7Z9V0_HUMAN,B4E3S0_HUMAN	.	UPI0000127C44	SNV	CORO1C,missense_variant,p.Pro256Thr,ENST00000549772,;CORO1C,missense_variant,p.Pro250Thr,ENST00000541050,;CORO1C,missense_variant,p.Pro145Thr,ENST00000421578,;CORO1C,missense_variant,p.Pro303Thr,ENST00000420959,;CORO1C,missense_variant,p.Pro250Thr,ENST00000261401,;CORO1C,downstream_gene_variant,,ENST00000550032,;CORO1C,downstream_gene_variant,,ENST00000546571,;CORO1C,downstream_gene_variant,,ENST00000551044,;CORO1C,downstream_gene_variant,,ENST00000551550,;CORO1C,downstream_gene_variant,,ENST00000552871,;CORO1C,upstream_gene_variant,,ENST00000546705,;CORO1C,downstream_gene_variant,,ENST00000547294,;CORO1C,splice_region_variant,,ENST00000552030,;CORO1C,intron_variant,,ENST00000549384,;CORO1C,splice_region_variant,,ENST00000547361,;CORO1C,intron_variant,,ENST00000550542,;CORO1C,downstream_gene_variant,,ENST00000547170,;	921	62	40	SUCCESS
CORO1C	23603	.	GRCh37	12	109051083	109051083	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs751537384	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	61	0	ENST00000261401.3:c.747T>A	p.Asn249Lys	p.N249K	ENST00000261401	NM_014325.3	249	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS9120.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGGATTCCA	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF10,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000261401	.	6/11	.	.	.	.	.	.	.	.	rs751537384	6/11	PASS	ENST00000261401	Transcript	.	.	ENSG00000110880	2254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.08)	.	COR1C_HUMAN	CORO1C	HGNC	H0YHL7_HUMAN,F8VVB7_HUMAN,F8VV53_HUMAN,F8VTT6_HUMAN,F8VSA4_HUMAN,F8VRE9_HUMAN,B7Z9V0_HUMAN,B4E3S0_HUMAN	.	UPI0000127C44	SNV	CORO1C,missense_variant,p.Asn255Lys,ENST00000549772,;CORO1C,missense_variant,p.Asn249Lys,ENST00000541050,;CORO1C,missense_variant,p.Asn144Lys,ENST00000421578,;CORO1C,missense_variant,p.Asn302Lys,ENST00000420959,;CORO1C,missense_variant,p.Asn249Lys,ENST00000261401,;CORO1C,downstream_gene_variant,,ENST00000550032,;CORO1C,downstream_gene_variant,,ENST00000546571,;CORO1C,downstream_gene_variant,,ENST00000551044,;CORO1C,downstream_gene_variant,,ENST00000551550,;CORO1C,downstream_gene_variant,,ENST00000552871,;CORO1C,upstream_gene_variant,,ENST00000546705,;CORO1C,downstream_gene_variant,,ENST00000547294,;CORO1C,non_coding_transcript_exon_variant,,ENST00000552030,;CORO1C,intron_variant,,ENST00000549384,;CORO1C,non_coding_transcript_exon_variant,,ENST00000547361,;CORO1C,intron_variant,,ENST00000550542,;CORO1C,downstream_gene_variant,,ENST00000547170,;	920	61	40	SUCCESS
LHX5	64211	.	GRCh37	12	113909489	113909489	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	8	0	ENST00000261731.3:c.-186A>T		p.*62*	ENST00000261731	NM_022363.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9171.1	.	MUTECT|MUSE	.	CGGAGTGGGGT	NONE	.	.	.	.	.	ENSP00000261731	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000261731	Transcript	.	.	ENSG00000089116	14216	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LHX5_HUMAN	LHX5	HGNC	.	.	UPI000012E662	SNV	LHX5,5_prime_UTR_variant,,ENST00000261731,;RP11-82C23.2,upstream_gene_variant,,ENST00000551357,;LHX5,non_coding_transcript_exon_variant,,ENST00000557836,;	389	8	13	SUCCESS
SLC6A12	6539	.	GRCh37	12	301686	301686	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138858909	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	49	94	0	ENST00000359674.4:c.1659C>A	p.Phe553Leu	p.F553L	ENST00000359674	NM_001122847.2	553	ttC/ttA	0	A:0.0007	A:0.0008	.	A:0	.	T	F/L	protein_coding	YES	CCDS8501.1	1659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACGAAGAG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF118,Pfam_domain:PF00209,Superfamily_domains:0053687	A:0	A:0	ENSP00000388184	A:0	15/16	.	.	.	.	.	.	.	.	rs138858909	15/16	PASS	ENST00000428720	Transcript	.	A:0.0002	ENSG00000111181	11045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	A:0	tolerated(0.11)	.	S6A12_HUMAN	SLC6A12	HGNC	F5H2T6_HUMAN,B3KTU1_HUMAN	.	UPI000013C8DB	SNV	SLC6A12,missense_variant,p.Phe553Leu,ENST00000536824,;SLC6A12,missense_variant,p.Phe553Leu,ENST00000359674,;SLC6A12,missense_variant,p.Phe553Leu,ENST00000397296,;SLC6A12,missense_variant,p.Phe553Leu,ENST00000428720,;SLC6A12,missense_variant,p.Phe553Leu,ENST00000424061,;RP11-283I3.1,upstream_gene_variant,,ENST00000544067,;SLC6A12,downstream_gene_variant,,ENST00000535498,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000545058,;SLC6A12,downstream_gene_variant,,ENST00000542825,;SLC6A12,downstream_gene_variant,,ENST00000544782,;	2403	94	109	SUCCESS
PAN2	9924	.	GRCh37	12	56713218	56713225	+	frameshift_variant	Frame_Shift_Del	DEL	GGCATCGA	GGCATCGA	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	GGCATCGA	GGCATCGA	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	62	0	ENST00000425394.2:c.3149_3156del	p.Leu1050GlnfsTer22	p.L1050Qfs*22	ENST00000425394	NM_001127460.2	1050	cTCGATGCC/c	0	.	.	.	.	.	-	LDA/X	protein_coding	YES	CCDS44922.1	3149-3156	VARSCANI*|PINDEL	.	AATTTTGGCATCGAGGTCA	NONE	.	.	hmmpanther:PTHR15728,hmmpanther:PTHR15728:SF0,Gene3D:3.30.420.10,Pfam_domain:PF00929,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000401721	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000425394	Transcript	.	.	ENSG00000135473	20074	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAN2_HUMAN	PAN2	HGNC	F8VXK8_HUMAN	.	UPI0000577D0A	deletion	PAN2,frameshift_variant,p.Leu1050GlnfsTer22,ENST00000425394,;PAN2,frameshift_variant,p.Leu1049GlnfsTer22,ENST00000257931,;PAN2,frameshift_variant,p.Leu1046GlnfsTer22,ENST00000440411,;PAN2,frameshift_variant,p.Leu1050GlnfsTer22,ENST00000548043,;CNPY2,upstream_gene_variant,,ENST00000551475,;CNPY2,upstream_gene_variant,,ENST00000551286,;RP11-977G19.10,upstream_gene_variant,,ENST00000549318,;RP11-977G19.10,upstream_gene_variant,,ENST00000548360,;RP11-977G19.10,upstream_gene_variant,,ENST00000547423,;CNPY2,upstream_gene_variant,,ENST00000273308,;RP11-977G19.11,downstream_gene_variant,,ENST00000549860,;RP11-977G19.11,downstream_gene_variant,,ENST00000549565,;PAN2,non_coding_transcript_exon_variant,,ENST00000549090,;CNPY2,upstream_gene_variant,,ENST00000551720,;CNPY2,upstream_gene_variant,,ENST00000551276,;PAN2,non_coding_transcript_exon_variant,,ENST00000547226,;PAN2,non_coding_transcript_exon_variant,,ENST00000550028,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547100,;CNPY2,upstream_gene_variant,,ENST00000547570,;PAN2,downstream_gene_variant,,ENST00000548982,;PAN2,downstream_gene_variant,,ENST00000552630,;PAN2,downstream_gene_variant,,ENST00000552868,;CNPY2,upstream_gene_variant,,ENST00000546388,;PAN2,downstream_gene_variant,,ENST00000549073,;PAN2,downstream_gene_variant,,ENST00000549348,;PAN2,upstream_gene_variant,,ENST00000553230,;CNPY2,upstream_gene_variant,,ENST00000548013,;CNPY2,upstream_gene_variant,,ENST00000553191,;PAN2,downstream_gene_variant,,ENST00000547994,;CNPY2,upstream_gene_variant,,ENST00000553164,;	3526-3533	62	71	SUCCESS
NACA	4666	.	GRCh37	12	57107416	57107416	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1224854276	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	67	0	ENST00000356769.3:c.286A>G	p.Ile96Val	p.I96V	ENST00000356769	NM_001113202.1	96	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS44925.2	2416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGATAGTGA	NONE	.	.	PROSITE_profiles:PS51151,hmmpanther:PTHR21713:SF3,hmmpanther:PTHR21713,Pfam_domain:PF01849	.	.	ENSP00000448035	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious_low_confidence(0.02)	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,missense_variant,p.Ile17Val,ENST00000546862,;NACA,missense_variant,p.Ile17Val,ENST00000548563,;NACA,missense_variant,p.Ile96Val,ENST00000546392,;NACA,missense_variant,p.Ile96Val,ENST00000356769,;NACA,missense_variant,p.Ile806Val,ENST00000550952,;NACA,missense_variant,p.Ile96Val,ENST00000549259,;NACA,missense_variant,p.Ile1959Val,ENST00000454682,;NACA,missense_variant,p.Ile94Val,ENST00000550920,;NACA,missense_variant,p.Ile96Val,ENST00000552540,;NACA,missense_variant,p.Ile96Val,ENST00000393891,;NACA,missense_variant,p.Ile92Val,ENST00000552055,;NACA,missense_variant,p.Ile96Val,ENST00000549855,;NACA,intron_variant,,ENST00000551775,;NACA,downstream_gene_variant,,ENST00000550343,;NACA,downstream_gene_variant,,ENST00000551793,;NACA,upstream_gene_variant,,ENST00000548386,;NACA,synonymous_variant,p.%3D,ENST00000547914,;NACA,downstream_gene_variant,,ENST00000548084,;NACA,upstream_gene_variant,,ENST00000546410,;NACA,downstream_gene_variant,,ENST00000551520,;	2455	67	94	SUCCESS
NAB2	4665	.	GRCh37	12	57482916	57482916	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	22	33	1	ENST00000300131.3:c.-139C>A		p.*47*	ENST00000300131	NM_005967.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8930.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCGGAGA	NONE	.	.	.	.	.	ENSP00000300131	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000300131	Transcript	.	.	ENSG00000166886	7627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAB2_HUMAN	NAB2	HGNC	.	.	UPI000012FC41	SNV	NAB2,5_prime_UTR_variant,,ENST00000342556,;NAB2,5_prime_UTR_variant,,ENST00000300131,;NAB2,5_prime_UTR_variant,,ENST00000357680,;NAB2,non_coding_transcript_exon_variant,,ENST00000555857,;TMEM194A,upstream_gene_variant,,ENST00000553654,;NAB2,upstream_gene_variant,,ENST00000554718,;NAB2,upstream_gene_variant,,ENST00000554839,;	240	34	34	SUCCESS
GPR162	27239	.	GRCh37	12	6933886	6933886	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	41	0	ENST00000311268.3:c.822C>T	p.Ser274=	p.S274=	ENST00000311268	NM_019858.1	274	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8563.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCGCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR16518:SF6,hmmpanther:PTHR16518,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01991	.	.	ENSP00000311528	.	2/5	.	.	.	.	.	.	.	.	COSM942934	2/5	PASS	ENST00000311268	Transcript	.	.	ENSG00000250510	16693	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GP162_HUMAN	GPR162	HGNC	J3KPJ9_HUMAN	.	UPI000005046E	SNV	GPR162,synonymous_variant,p.%3D,ENST00000311268,;GPR162,splice_region_variant,,ENST00000545321,;GPR162,intron_variant,,ENST00000428545,;GPR162,intron_variant,,ENST00000382315,;LEPREL2,upstream_gene_variant,,ENST00000251761,;LEPREL2,upstream_gene_variant,,ENST00000396725,;CD4,downstream_gene_variant,,ENST00000011653,;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,upstream_gene_variant,,ENST00000542330,;LEPREL2,upstream_gene_variant,,ENST00000544813,;GPR162,non_coding_transcript_exon_variant,,ENST00000535220,;CD4,downstream_gene_variant,,ENST00000437800,;LEPREL2,upstream_gene_variant,,ENST00000536140,;LEPREL2,upstream_gene_variant,,ENST00000606935,;	1609	41	44	SUCCESS
GLIPR1	11010	.	GRCh37	12	75875684	75875684	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150528235	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	107	0	ENST00000266659.3:c.245G>A	p.Arg82Gln	p.R82Q	ENST00000266659	NM_006851.2	82	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS9011.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACGGCTGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10334:SF163,hmmpanther:PTHR10334,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797	A:0.001	.	ENSP00000266659	A:0	2/6	.	.	.	.	.	.	.	.	rs150528235	2/6	PASS	ENST00000266659	Transcript	.	A:0.0002	ENSG00000139278	17001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated(0.64)	.	GLIP1_HUMAN	GLIPR1	HGNC	.	.	UPI000012B60F	SNV	GLIPR1,missense_variant,p.Arg82Gln,ENST00000456650,;GLIPR1,missense_variant,p.Arg82Gln,ENST00000266659,;GLIPR1,5_prime_UTR_variant,,ENST00000550491,;RP11-585P4.5,downstream_gene_variant,,ENST00000547326,;GLIPR1,missense_variant,p.Arg82Gln,ENST00000536703,;	446	107	106	SUCCESS
SYT1	6857	.	GRCh37	12	79611325	79611325	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	41	0	ENST00000261205.4:c.26C>G	p.Ala9Gly	p.A9G	ENST00000261205	NM_005639.2	9	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS9017.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCCCTGG	NONE	.	.	hmmpanther:PTHR10024:SF183,hmmpanther:PTHR10024,Low_complexity_(Seg):seg	.	.	ENSP00000261205	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000261205	Transcript	.	.	ENSG00000067715	11509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	SYT1_HUMAN	SYT1	HGNC	F8W1U9_HUMAN,F8VZY3_HUMAN,F8VYH8_HUMAN,F8VP93_HUMAN,C9JX50_HUMAN	.	UPI000013669A	SNV	SYT1,missense_variant,p.Ala9Gly,ENST00000552624,;SYT1,missense_variant,p.Ala9Gly,ENST00000457153,;SYT1,missense_variant,p.Ala9Gly,ENST00000551304,;SYT1,missense_variant,p.Ala9Gly,ENST00000549671,;SYT1,missense_variant,p.Ala9Gly,ENST00000552074,;SYT1,missense_variant,p.Ala9Gly,ENST00000446242,;SYT1,missense_variant,p.Ala9Gly,ENST00000547046,;SYT1,missense_variant,p.Ala9Gly,ENST00000393240,;SYT1,missense_variant,p.Ala9Gly,ENST00000261205,;SYT1,missense_variant,p.Ala9Gly,ENST00000552744,;SYT1,downstream_gene_variant,,ENST00000549454,;	683	41	25	SUCCESS
PTPRQ	374462	.	GRCh37	12	80933562	80933562	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs12316867	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	69	200	1	ENST00000266688.5:c.2981C>T	p.Thr994Ile	p.T994I	ENST00000266688		994	aCa/aTa	0	.	T:0.0076	.	T:0.0029	.	T	T/I	protein_coding	YES	.	2981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTACACTCC	NONE	byFrequency|byCluster|byHapMap|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	.	ENSP00000266688	T:0	25/50	.	.	.	.	.	.	.	.	rs12316867	25/50	PASS	ENST00000266688	Transcript	.	T:0.0024	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	T:0	deleterious(0.02)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Thr994Ile,ENST00000266688,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000547485,;PTPRQ,upstream_gene_variant,,ENST00000551624,;	2981	201	177	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518023	85518023	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	75	0	ENST00000393217.2:c.3733C>T	p.Gln1245Ter	p.Q1245*	ENST00000393217	NM_001079910.1	1245	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS41816.1	3733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCAAAAT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,stop_gained,p.Gln1245Ter,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	3794	75	91	SUCCESS
ATP2B1	490	.	GRCh37	12	90035972	90035972	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	77	0	ENST00000428670.3:c.369C>G	p.Gly123=	p.G123=	ENST00000428670		123	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS9035.1	369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGCCCAA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,SMART_domains:SM00831,Superfamily_domains:0049473	.	.	ENSP00000392043	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000428670	Transcript	.	.	ENSG00000070961	814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2B1_HUMAN	ATP2B1	HGNC	Q3L582_HUMAN	.	UPI000002A436	SNV	ATP2B1,synonymous_variant,p.%3D,ENST00000428670,;ATP2B1,synonymous_variant,p.%3D,ENST00000359142,;ATP2B1,synonymous_variant,p.%3D,ENST00000261173,;ATP2B1,synonymous_variant,p.%3D,ENST00000348959,;ATP2B1,non_coding_transcript_exon_variant,,ENST00000549585,;	826	77	84	SUCCESS
ERCC5	2073	.	GRCh37	13	103498569	103498569	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	33	0	ENST00000355739.4:c.-48A>C		p.*16*	ENST00000355739	NM_000123.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32004.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAATTAG	NONE	.	.	.	.	.	ENSP00000347978	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000355739	Transcript	.	.	ENSG00000134899	3437	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC5_HUMAN	ERCC5	HGNC	.	.	UPI000006D0C3	SNV	ERCC5,5_prime_UTR_variant,,ENST00000535557,;ERCC5,5_prime_UTR_variant,,ENST00000355739,;BIVM-ERCC5,intron_variant,,ENST00000602836,;BIVM,downstream_gene_variant,,ENST00000448849,;BIVM,downstream_gene_variant,,ENST00000257336,;ERCC5,5_prime_UTR_variant,,ENST00000472151,;ERCC5,non_coding_transcript_exon_variant,,ENST00000375958,;	1376	33	49	SUCCESS
RASA3	22821	.	GRCh37	13	114778624	114778624	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	51	0	ENST00000334062.7:c.1506C>A	p.His502Gln	p.H502Q	ENST00000334062	NM_007368.2	502	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS32016.1	1506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGTGCGG	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR10194:SF53,hmmpanther:PTHR10194,Pfam_domain:PF00616,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000335029	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000334062	Transcript	.	.	ENSG00000185989	20331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.1)	.	RASA3_HUMAN	RASA3	HGNC	F8W6X8_HUMAN	.	UPI000000DBC1	SNV	RASA3,missense_variant,p.His470Gln,ENST00000389544,;RASA3,missense_variant,p.His502Gln,ENST00000334062,;RASA3,downstream_gene_variant,,ENST00000542651,;	1628	51	54	SUCCESS
PROSER1	80209	.	GRCh37	13	39588204	39588204	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	147	2	ENST00000352251.3:c.1185A>C	p.Ala395=	p.A395=	ENST00000352251	NM_025138.4	395	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9368.2	1185	RADIA|SOMATICSNIPER|VARSCANS	.	GCAAATGCTTC	NONE	.	.	hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2	.	.	ENSP00000332034	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000352251	Transcript	.	.	ENSG00000120685	20291	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRSR1_HUMAN	PROSER1	HGNC	.	.	UPI00001FCC65	SNV	PROSER1,synonymous_variant,p.%3D,ENST00000352251,;PROSER1,synonymous_variant,p.%3D,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,upstream_gene_variant,,ENST00000492646,;PROSER1,downstream_gene_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000602899,;	2019	149	138	SUCCESS
NHLRC3	387921	.	GRCh37	13	39613820	39613820	+	synonymous_variant	Silent	SNP	A	A	G	rs917357887	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	83	0	ENST00000379600.3:c.357A>G	p.Gln119=	p.Q119=	ENST00000379600	NM_001012754.3	119	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS31961.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAATCCGT	NONE	.	.	hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000368920	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000379600	Transcript	.	.	ENSG00000188811	33751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NHLC3_HUMAN	NHLRC3	HGNC	C9J973_HUMAN	.	UPI0000251E60	SNV	NHLRC3,synonymous_variant,p.%3D,ENST00000379600,;NHLRC3,synonymous_variant,p.%3D,ENST00000379599,;NHLRC3,5_prime_UTR_variant,,ENST00000470258,;PROSER1,upstream_gene_variant,,ENST00000352251,;PROSER1,upstream_gene_variant,,ENST00000418503,;PROSER1,upstream_gene_variant,,ENST00000350125,;NHLRC3,non_coding_transcript_exon_variant,,ENST00000473371,;NHLRC3,upstream_gene_variant,,ENST00000485407,;PROSER1,upstream_gene_variant,,ENST00000602534,;	679	83	116	SUCCESS
CRIP2	1397	.	GRCh37	14	105945139	105945139	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	20	0	ENST00000329146.4:c.268C>T	p.Pro90Ser	p.P90S	ENST00000329146	NM_001312.3	90	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS59246.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCCCATC	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF87	.	.	ENSP00000426119	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000483017	Transcript	.	.	ENSG00000182809	2361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	tolerated(0.07)	.	CRIP2_HUMAN	CRIP2	HGNC	.	.	UPI0001914E41	SNV	CRIP2,missense_variant,p.Pro90Ser,ENST00000329146,;CRIP2,missense_variant,p.Pro164Ser,ENST00000483017,;CRIP2,missense_variant,p.Pro74Ser,ENST00000538259,;CRIP2,intron_variant,,ENST00000550577,;CRIP2,non_coding_transcript_exon_variant,,ENST00000548989,;CRIP2,non_coding_transcript_exon_variant,,ENST00000548309,;CRIP2,downstream_gene_variant,,ENST00000548923,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551738,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551836,;CRIP2,non_coding_transcript_exon_variant,,ENST00000552643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000547643,;	776	20	33	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72055563	72055563	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	99	0	ENST00000555818.1:c.974G>T	p.Trp325Leu	p.W325L	ENST00000555818	NM_015556.1	325	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS9807.1	974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGGACAT	NONE	.	.	hmmpanther:PTHR15711:SF10,hmmpanther:PTHR15711	.	.	ENSP00000450832	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.11)	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,missense_variant,p.Trp325Leu,ENST00000358550,;SIPA1L1,missense_variant,p.Trp325Leu,ENST00000381232,;SIPA1L1,missense_variant,p.Trp325Leu,ENST00000555818,;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;	1322	99	87	SUCCESS
GPR65	8477	.	GRCh37	14	88477151	88477151	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	64	0	ENST00000267549.3:c.-41T>C		p.*14*	ENST00000267549	NM_003608.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9879.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACTTTCTA	NONE	.	.	.	.	.	ENSP00000267549	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000267549	Transcript	.	.	ENSG00000140030	4517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSYR_HUMAN	GPR65	HGNC	B5B0C2_HUMAN	.	UPI000007422C	SNV	GPR65,5_prime_UTR_variant,,ENST00000267549,;RP11-300J18.2,non_coding_transcript_exon_variant,,ENST00000554433,;	518	64	94	SUCCESS
NDN	4692	.	GRCh37	15	23931788	23931788	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	58	0	ENST00000331837.4:c.577A>C	p.Met193Leu	p.M193L	ENST00000331837	NM_002487.2	193	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS10014.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCATGAGCA	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.06)	.	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,missense_variant,p.Met193Leu,ENST00000331837,;	663	58	90	SUCCESS
TRPM1	4308	.	GRCh37	15	31362098	31362098	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	20	0	ENST00000397795.2:c.213+136C>T		p.*71*	ENST00000397795	NM_002420.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58347.1	.	MUTECT|MUSE	.	CTCTTGGTTTT	NONE	.	.	.	.	.	ENSP00000437849	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODIFIER	3/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,stop_gained,p.Gln117Ter,ENST00000559179,;TRPM1,intron_variant,,ENST00000558445,;TRPM1,intron_variant,,ENST00000542188,;TRPM1,intron_variant,,ENST00000558768,;TRPM1,intron_variant,,ENST00000256552,;TRPM1,intron_variant,,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;MIR211,upstream_gene_variant,,ENST00000384969,;TRPM1,intron_variant,,ENST00000560801,;TRPM1,intron_variant,,ENST00000560658,;	.	20	20	SUCCESS
CA12	771	.	GRCh37	15	63632570	63632570	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780478289	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	5	96	0	ENST00000178638.3:c.664C>T	p.Arg222Trp	p.R222W	ENST00000178638	NM_001218.3	222	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10185.1	664	MUTECT|MUSE	.	CCCCCGGTAGC	NONE	byFrequency	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF19,hmmpanther:PTHR18952,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000178638	.	7/11	.	.	.	.	.	.	.	.	rs780478289	7/11	PASS	ENST00000178638	Transcript	1	.	ENSG00000074410	1371	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.567)	.	deleterious(0)	.	CAH12_HUMAN	CA12	HGNC	.	.	UPI0000035CDD	SNV	CA12,missense_variant,p.Arg222Trp,ENST00000344366,;CA12,missense_variant,p.Arg162Trp,ENST00000422263,;CA12,missense_variant,p.Arg222Trp,ENST00000178638,;CA12,non_coding_transcript_exon_variant,,ENST00000558287,;	1105	96	121	SUCCESS
USP3	9960	.	GRCh37	15	63881201	63881201	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1566921687	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	97	0	ENST00000380324.3:c.1388A>G	p.His463Arg	p.H463R	ENST00000380324	NM_006537.3	463	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS32265.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCATGGTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF356,hmmpanther:PTHR24006,PROSITE_patterns:PS00973,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000369681	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000380324	Transcript	.	.	ENSG00000140455	12626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious(0)	.	UBP3_HUMAN	USP3	HGNC	Q9Y2R8_HUMAN,H0YM72_HUMAN,B4DWJ6_HUMAN	.	UPI0000071F2D	SNV	USP3,missense_variant,p.His463Arg,ENST00000380324,;USP3,missense_variant,p.His446Arg,ENST00000558285,;USP3,missense_variant,p.His419Arg,ENST00000540797,;USP3,missense_variant,p.His214Arg,ENST00000539772,;USP3,missense_variant,p.His374Arg,ENST00000559711,;USP3,missense_variant,p.His441Arg,ENST00000268049,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000559737,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000559357,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000561256,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000558831,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000560350,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000560962,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000559861,;USP3-AS1,downstream_gene_variant,,ENST00000560622,;USP3-AS1,downstream_gene_variant,,ENST00000561191,;USP3,non_coding_transcript_exon_variant,,ENST00000558218,;USP3,missense_variant,p.His386Arg,ENST00000559257,;USP3,missense_variant,p.His49Arg,ENST00000560202,;USP3,3_prime_UTR_variant,,ENST00000538686,;USP3,3_prime_UTR_variant,,ENST00000559192,;USP3,3_prime_UTR_variant,,ENST00000558157,;USP3,non_coding_transcript_exon_variant,,ENST00000559718,;USP3,non_coding_transcript_exon_variant,,ENST00000561381,;USP3,downstream_gene_variant,,ENST00000559873,;	1517	97	86	SUCCESS
SEMA7A	8482	.	GRCh37	15	74703257	74703257	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	55	0	ENST00000261918.4:c.1709C>T	p.Ser570Phe	p.S570F	ENST00000261918	NM_003612.3	570	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS10262.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGATTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000261918	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,missense_variant,p.Ser570Phe,ENST00000261918,;SEMA7A,missense_variant,p.Ser405Phe,ENST00000542748,;SEMA7A,missense_variant,p.Ser556Phe,ENST00000543145,;SEMA7A,downstream_gene_variant,,ENST00000569617,;	2258	55	57	SUCCESS
SLC28A1	9154	.	GRCh37	15	85438898	85438898	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	11	0	ENST00000286749.3:c.461+544G>C		p.*154*	ENST00000286749	NM_001287762.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10334.1	.	RADIA|MUTECT|MUSE	.	ATTCAGACTTC	NONE	.	.	.	.	.	ENSP00000378074	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394573	Transcript	.	.	ENSG00000156222	11001	.	.	MODIFIER	6/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S28A1_HUMAN	SLC28A1	HGNC	.	.	UPI000013DE67	SNV	SLC28A1,3_prime_UTR_variant,,ENST00000338602,;SLC28A1,intron_variant,,ENST00000537703,;SLC28A1,intron_variant,,ENST00000394573,;SLC28A1,intron_variant,,ENST00000538177,;SLC28A1,intron_variant,,ENST00000537624,;SLC28A1,intron_variant,,ENST00000537216,;SLC28A1,intron_variant,,ENST00000286749,;	.	11	11	SUCCESS
VPS33B	26276	.	GRCh37	15	91548981	91548981	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	65	0	ENST00000333371.3:c.973A>G	p.Asn325Asp	p.N325D	ENST00000333371	NM_018668.3	325	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS10369.1	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTCTTCA	NONE	.	.	hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF1,Pfam_domain:PF00995,Superfamily_domains:SSF56815	.	.	ENSP00000327650	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000333371	Transcript	1	.	ENSG00000184056	12712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.29)	.	VP33B_HUMAN	VPS33B	HGNC	B3KQF6_HUMAN	.	UPI0000169A6E	SNV	VPS33B,missense_variant,p.Asn325Asp,ENST00000333371,;VPS33B,missense_variant,p.Asn234Asp,ENST00000535843,;VPS33B,missense_variant,p.Asn298Asp,ENST00000535906,;VPS33B,3_prime_UTR_variant,,ENST00000574755,;VPS33B,downstream_gene_variant,,ENST00000554264,;VPS33B,downstream_gene_variant,,ENST00000556096,;VPS33B,upstream_gene_variant,,ENST00000554660,;VPS33B,upstream_gene_variant,,ENST00000557470,;	1327	65	91	SUCCESS
NDUFB10	4716	.	GRCh37	16	2011585	2011585	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	89	0	ENST00000268668.6:c.357T>A	p.Cys119Ter	p.C119*	ENST00000268668	NM_004548.2	119	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS10451.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTATCAA	NONE	.	.	hmmpanther:PTHR13094:SF1,hmmpanther:PTHR13094,Pfam_domain:PF10249	.	.	ENSP00000268668	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000268668	Transcript	.	.	ENSG00000140990	7696	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUBA_HUMAN	NDUFB10	HGNC	Q96RX5_HUMAN,A8K761_HUMAN	.	UPI000013D7D0	SNV	NDUFB10,stop_gained,p.Cys119Ter,ENST00000543683,;NDUFB10,stop_gained,p.Cys119Ter,ENST00000268668,;NDUFB10,stop_gained,p.Cys108Ter,ENST00000569148,;NDUFB10,stop_gained,p.Cys119Ter,ENST00000570172,;RPL3L,upstream_gene_variant,,ENST00000565426,;RPS2,downstream_gene_variant,,ENST00000533186,;RPS2,downstream_gene_variant,,ENST00000526522,;RPS2,downstream_gene_variant,,ENST00000563194,;RPS2,downstream_gene_variant,,ENST00000530225,;RPS2,downstream_gene_variant,,ENST00000527302,;RPS2,downstream_gene_variant,,ENST00000343262,;RPS2,downstream_gene_variant,,ENST00000529806,;RPS2,downstream_gene_variant,,ENST00000526586,;SNHG9,upstream_gene_variant,,ENST00000564014,;SNHG9,upstream_gene_variant,,ENST00000459373,;SNORA10,downstream_gene_variant,,ENST00000384084,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNORA64,downstream_gene_variant,,ENST00000384674,;RPL3L,upstream_gene_variant,,ENST00000566484,;NDUFB10,non_coding_transcript_exon_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000526908,;RPS2,downstream_gene_variant,,ENST00000532746,;RPS2,downstream_gene_variant,,ENST00000527826,;RPS2,downstream_gene_variant,,ENST00000527109,;RPS2,downstream_gene_variant,,ENST00000531065,;RPS2,downstream_gene_variant,,ENST00000534461,;RPS2,downstream_gene_variant,,ENST00000527871,;RPS2,downstream_gene_variant,,ENST00000533161,;RPS2,downstream_gene_variant,,ENST00000533872,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	474	89	92	SUCCESS
NDUFB10	4716	.	GRCh37	16	2011586	2011586	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	89	0	ENST00000268668.6:c.358A>T	p.Ile120Phe	p.I120F	ENST00000268668	NM_004548.2	120	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS10451.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTATCAAG	NONE	.	.	hmmpanther:PTHR13094:SF1,hmmpanther:PTHR13094,Pfam_domain:PF10249	.	.	ENSP00000268668	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000268668	Transcript	.	.	ENSG00000140990	7696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.01)	.	NDUBA_HUMAN	NDUFB10	HGNC	Q96RX5_HUMAN,A8K761_HUMAN	.	UPI000013D7D0	SNV	NDUFB10,missense_variant,p.Ile120Phe,ENST00000543683,;NDUFB10,missense_variant,p.Ile120Phe,ENST00000268668,;NDUFB10,missense_variant,p.Ile109Phe,ENST00000569148,;NDUFB10,missense_variant,p.Ile120Phe,ENST00000570172,;RPL3L,upstream_gene_variant,,ENST00000565426,;RPS2,downstream_gene_variant,,ENST00000533186,;RPS2,downstream_gene_variant,,ENST00000526522,;RPS2,downstream_gene_variant,,ENST00000563194,;RPS2,downstream_gene_variant,,ENST00000530225,;RPS2,downstream_gene_variant,,ENST00000527302,;RPS2,downstream_gene_variant,,ENST00000343262,;RPS2,downstream_gene_variant,,ENST00000529806,;RPS2,downstream_gene_variant,,ENST00000526586,;SNHG9,upstream_gene_variant,,ENST00000564014,;SNHG9,upstream_gene_variant,,ENST00000459373,;SNORA10,downstream_gene_variant,,ENST00000384084,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNORA64,downstream_gene_variant,,ENST00000384674,;RPL3L,upstream_gene_variant,,ENST00000566484,;NDUFB10,non_coding_transcript_exon_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000526908,;RPS2,downstream_gene_variant,,ENST00000532746,;RPS2,downstream_gene_variant,,ENST00000527826,;RPS2,downstream_gene_variant,,ENST00000527109,;RPS2,downstream_gene_variant,,ENST00000531065,;RPS2,downstream_gene_variant,,ENST00000534461,;RPS2,downstream_gene_variant,,ENST00000527871,;RPS2,downstream_gene_variant,,ENST00000533161,;RPS2,downstream_gene_variant,,ENST00000533872,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	475	89	92	SUCCESS
OTOA	146183	.	GRCh37	16	21698947	21698947	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754836536	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	31	64	0	ENST00000286149.4:c.613C>T	p.Arg205Cys	p.R205C	ENST00000286149		205	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS10600.2	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCGCGAG	NONE	.	.	hmmpanther:PTHR23412:SF14,hmmpanther:PTHR23412	.	.	ENSP00000373610	.	7/28	.	.	.	.	.	.	.	.	rs754836536,COSM557215	7/28	PASS	ENST00000388958	Transcript	.	.	ENSG00000155719	16378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.001)	.	tolerated(0.08)	0,1	OTOAN_HUMAN	OTOA	HGNC	B4DZ38_HUMAN	.	UPI00005C8607	SNV	OTOA,missense_variant,p.Arg126Cys,ENST00000388956,;OTOA,missense_variant,p.Arg205Cys,ENST00000286149,;OTOA,missense_variant,p.Arg205Cys,ENST00000388958,;	614	64	80	SUCCESS
IRX3	79191	.	GRCh37	16	54318534	54318534	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1338572726	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	11	19	0	ENST00000329734.3:c.1259C>G	p.Pro420Arg	p.P420R	ENST00000329734	NM_024336.2	420	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS10750.1	1259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGGGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11211:SF14,hmmpanther:PTHR11211	.	.	ENSP00000331608	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000329734	Transcript	.	.	ENSG00000177508	14360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.07)	.	IRX3_HUMAN	IRX3	HGNC	.	.	UPI000019745F	SNV	IRX3,missense_variant,p.Pro420Arg,ENST00000329734,;IRX3,intron_variant,,ENST00000558054,;IRX3,non_coding_transcript_exon_variant,,ENST00000558180,;	1972	19	15	SUCCESS
PLEKHG4	25894	.	GRCh37	16	67313942	67313942	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	70	0	ENST00000360461.5:c.-6G>A		p.*2*	ENST00000360461	NM_001129727.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGCGTG	NONE	.	.	.	.	.	ENSP00000353646	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000360461	Transcript	.	.	ENSG00000196155	24501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHG4_HUMAN	PLEKHG4	HGNC	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN	.	UPI000013C774	SNV	PLEKHG4,5_prime_UTR_variant,,ENST00000567938,;PLEKHG4,5_prime_UTR_variant,,ENST00000568621,;PLEKHG4,5_prime_UTR_variant,,ENST00000565899,;PLEKHG4,5_prime_UTR_variant,,ENST00000360461,;PLEKHG4,5_prime_UTR_variant,,ENST00000379344,;PLEKHG4,5_prime_UTR_variant,,ENST00000427155,;PLEKHG4,5_prime_UTR_variant,,ENST00000562144,;PLEKHG4,5_prime_UTR_variant,,ENST00000565773,;PLEKHG4,5_prime_UTR_variant,,ENST00000562744,;PLEKHG4,5_prime_UTR_variant,,ENST00000450733,;PLEKHG4,5_prime_UTR_variant,,ENST00000563969,;PLEKHG4,5_prime_UTR_variant,,ENST00000393966,;	2530	70	97	SUCCESS
DPEP2	64174	.	GRCh37	16	68023228	68023228	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs1207698660	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	56	0	ENST00000393847.1:c.1068C>A		p.X356_splice	ENST00000393847	NM_022355.3	356	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10857.1	1068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGCCGGC	NONE	.	.	PROSITE_profiles:PS51365,hmmpanther:PTHR10443:SF9,hmmpanther:PTHR10443,Pfam_domain:PF01244,Gene3D:3.20.20.140,Superfamily_domains:SSF51556	.	.	ENSP00000412549	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000412757	Transcript	.	.	ENSG00000167261	23028	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPEP2_HUMAN	DPEP2	HGNC	I3L4H3_HUMAN,I3L348_HUMAN	.	UPI000013D7DC	SNV	DPEP2,synonymous_variant,p.%3D,ENST00000572888,;DPEP2,synonymous_variant,p.%3D,ENST00000393847,;DPEP2,synonymous_variant,p.%3D,ENST00000412757,;DUS2,intron_variant,,ENST00000571081,;DUS2,intron_variant,,ENST00000570709,;DPEP2,downstream_gene_variant,,ENST00000574865,;DPEP2,downstream_gene_variant,,ENST00000573808,;DPEP2,downstream_gene_variant,,ENST00000572624,;DPEP2,downstream_gene_variant,,ENST00000575510,;DPEP2,splice_region_variant,,ENST00000575203,;DPEP2,downstream_gene_variant,,ENST00000574316,;DPEP2,downstream_gene_variant,,ENST00000268795,;	1734	56	57	SUCCESS
ZNF276	92822	.	GRCh37	16	89799791	89799791	+	synonymous_variant	Silent	SNP	C	C	T	rs765026468	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	67	132	0	ENST00000443381.2:c.1251C>T	p.Pro417=	p.P417=	ENST00000443381	NM_001113525.1	417	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45554.1	1251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCGGATG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389:SF340,hmmpanther:PTHR11389	.	.	ENSP00000415836	.	7/11	.	.	.	.	.	.	.	.	rs765026468,COSM3680064,COSM3680063	7/11	PASS	ENST00000443381	Transcript	.	.	ENSG00000158805	23330	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ZN276_HUMAN	ZNF276	HGNC	.	.	UPI0000EE7D9C	SNV	ZNF276,synonymous_variant,p.%3D,ENST00000446326,;ZNF276,synonymous_variant,p.%3D,ENST00000568064,;ZNF276,synonymous_variant,p.%3D,ENST00000443381,;ZNF276,synonymous_variant,p.%3D,ENST00000289816,;FANCA,downstream_gene_variant,,ENST00000389301,;ZNF276,3_prime_UTR_variant,,ENST00000568295,;ZNF276,3_prime_UTR_variant,,ENST00000562530,;ZNF276,3_prime_UTR_variant,,ENST00000563541,;ZNF276,non_coding_transcript_exon_variant,,ENST00000569426,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,non_coding_transcript_exon_variant,,ENST00000561536,;ZNF276,non_coding_transcript_exon_variant,,ENST00000564004,;ZNF276,non_coding_transcript_exon_variant,,ENST00000569582,;ZNF276,upstream_gene_variant,,ENST00000569901,;	1348	132	146	SUCCESS
FAM222B	55731	.	GRCh37	17	27086796	27086796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	36	108	0	ENST00000452648.3:c.181A>G	p.Ile61Val	p.I61V	ENST00000452648		61	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45637.1	181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATTTTTA	NONE	.	.	hmmpanther:PTHR16070,hmmpanther:PTHR16070:SF1,Pfam_domain:PF15258	.	.	ENSP00000343115	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341217	Transcript	.	.	ENSG00000173065	25563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.658)	.	deleterious(0)	.	F222B_HUMAN	FAM222B	HGNC	J3QRR9_HUMAN,J3QR32_HUMAN,J3QLP2_HUMAN,J3QKY8_HUMAN,B4DRX9_HUMAN	.	UPI000006F01C	SNV	FAM222B,missense_variant,p.Ile61Val,ENST00000577376,;FAM222B,missense_variant,p.Ile61Val,ENST00000452648,;FAM222B,missense_variant,p.Ile61Val,ENST00000577513,;FAM222B,missense_variant,p.Ile61Val,ENST00000581229,;FAM222B,missense_variant,p.Ile61Val,ENST00000581407,;FAM222B,missense_variant,p.Ile61Val,ENST00000341217,;FAM222B,missense_variant,p.Ile61Val,ENST00000583307,;FAM222B,intron_variant,,ENST00000577682,;FAM222B,intron_variant,,ENST00000583522,;FAM222B,intron_variant,,ENST00000582059,;FAM222B,intron_variant,,ENST00000581381,;FAM222B,intron_variant,,ENST00000583953,;FAM222B,intron_variant,,ENST00000582266,;FAM222B,downstream_gene_variant,,ENST00000584059,;FAM222B,downstream_gene_variant,,ENST00000579381,;	397	108	117	SUCCESS
CLTC	1213	.	GRCh37	17	57743863	57743863	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	41	103	0	ENST00000269122.3:c.1805A>G	p.Asn602Ser	p.N602S	ENST00000269122	NM_004859.3	602	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32696.1	1805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAATCAGA	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0.04)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Asn602Ser,ENST00000269122,;CLTC,missense_variant,p.Asn602Ser,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,upstream_gene_variant,,ENST00000579815,;CLTC,non_coding_transcript_exon_variant,,ENST00000466513,;CLTC,downstream_gene_variant,,ENST00000483176,;	2079	103	104	SUCCESS
EPG5	57724	.	GRCh37	18	43490657	43490657	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200456950	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	86	0	ENST00000282041.5:c.4034A>G	p.His1345Arg	p.H1345R	ENST00000282041	NM_020964.2	1345	cAt/cGt	0	C:0	.	.	.	.	C	H/R	protein_coding	YES	CCDS11926.2	4034	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATATGAGCA	NONE	byCluster	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	C:0.0001	ENSP00000282041	.	23/44	.	.	.	.	.	.	.	.	rs200456950	23/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious(0.01)	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,missense_variant,p.His1345Arg,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,missense_variant,p.His220Arg,ENST00000587884,;EPG5,missense_variant,p.His220Arg,ENST00000592272,;EPG5,missense_variant,p.His220Arg,ENST00000590884,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	4069	86	89	SUCCESS
SMIM7	79086	.	GRCh37	19	16764845	16764845	+	splice_donor_variant,NMD_transcript_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	53	0	ENST00000481671.2:c.212+1G>A		p.X71_splice	ENST00000481671		71		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12348.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACACAAT	NONE	.	.	.	.	.	ENSP00000417147	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000487416	Transcript	.	.	ENSG00000214046	28419	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMIM7_HUMAN	SMIM7	HGNC	M0R2G5_HUMAN,M0R0R3_HUMAN	.	UPI000004A094	SNV	SMIM7,splice_donor_variant,,ENST00000487416,;SMIM7,splice_donor_variant,,ENST00000358726,;CTC-429P9.4,intron_variant,,ENST00000593459,;SMIM7,intron_variant,,ENST00000597711,;SMIM7,splice_donor_variant,,ENST00000397349,;SMIM7,splice_donor_variant,,ENST00000594507,;CTC-429P9.4,splice_donor_variant,,ENST00000593962,;SMIM7,non_coding_transcript_exon_variant,,ENST00000461364,;CTC-429P9.4,splice_donor_variant,,ENST00000601636,;SMIM7,splice_donor_variant,,ENST00000481671,;CTC-429P9.4,splice_donor_variant,,ENST00000593991,;SMIM7,splice_donor_variant,,ENST00000600740,;SMIM7,splice_donor_variant,,ENST00000593404,;SMIM7,splice_donor_variant,,ENST00000599310,;SMIM7,splice_donor_variant,,ENST00000594662,;SMIM7,splice_donor_variant,,ENST00000597781,;SMIM7,splice_donor_variant,,ENST00000593409,;SMIM7,splice_donor_variant,,ENST00000487803,;SMIM7,splice_donor_variant,,ENST00000461488,;CTC-429P9.4,splice_donor_variant,,ENST00000594509,;SMIM7,splice_donor_variant,,ENST00000463051,;SMIM7,intron_variant,,ENST00000602194,;CTC-429P9.4,intron_variant,,ENST00000600705,;SMIM7,intron_variant,,ENST00000598278,;CTC-429P9.4,intron_variant,,ENST00000595505,;SMIM7,intron_variant,,ENST00000465250,;	.	53	52	SUCCESS
IL12RB1	3594	.	GRCh37	19	18170871	18170871	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	64	0	ENST00000593993.2:c.1816G>T	p.Asp606Tyr	p.D606Y	ENST00000593993	NM_005535.1	606	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54232.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCCACTG	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51	.	.	ENSP00000470788	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000600835	Transcript	1	.	ENSG00000096996	5971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	I12R1_HUMAN	IL12RB1	HGNC	M0R382_HUMAN,M0QX06_HUMAN	.	UPI00000502CE	SNV	IL12RB1,missense_variant,p.Asp606Tyr,ENST00000593993,;IL12RB1,missense_variant,p.Asp606Tyr,ENST00000600835,;	2115	64	68	SUCCESS
KMT2B	9757	.	GRCh37	19	36216413	36216413	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	24	0	ENST00000222270.7:c.3676C>T	p.His1226Tyr	p.H1226Y	ENST00000222270	NM_014727.1	1226	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS46055.1	3676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCACCCA	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354,SMART_domains:SM00249	.	.	ENSP00000222270	.	12/37	.	.	.	.	.	.	.	.	COSM3532655	12/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.346)	.	.	1	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.His1226Tyr,ENST00000420124,;KMT2B,missense_variant,p.His1226Tyr,ENST00000222270,;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;	3676	24	26	SUCCESS
ZFP30	22835	.	GRCh37	19	38126047	38126047	+	synonymous_variant	Silent	SNP	G	G	A	rs575517303	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	52	101	0	ENST00000351218.2:c.1395C>T	p.Pro465=	p.P465=	ENST00000351218	NM_014898.2	465	ccC/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS33005.1	1395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAGGGCTT	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	A:0	.	ENSP00000343581	A:0	6/6	.	.	.	.	.	.	.	.	rs575517303	6/6	PASS	ENST00000351218	Transcript	.	A:0.0002	ENSG00000120784	29555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	ZFP30_HUMAN	ZFP30	HGNC	K7EK76_HUMAN,D3Y2A0_HUMAN	.	UPI0000139E7F	SNV	ZFP30,synonymous_variant,p.%3D,ENST00000514101,;ZFP30,synonymous_variant,p.%3D,ENST00000351218,;ZFP30,synonymous_variant,p.%3D,ENST00000392144,;ZFP30,intron_variant,,ENST00000589018,;ZFP30,downstream_gene_variant,,ENST00000587809,;	1953	101	110	SUCCESS
LTBP4	8425	.	GRCh37	19	41116482	41116482	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1355671197	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	55	0	ENST00000308370.7:c.1930C>T	p.Arg644Cys	p.R644C	ENST00000308370	NM_001042544.1	644	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	1930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGCGCTGC	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026	.	.	ENSP00000311905	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,missense_variant,p.Arg97Cys,ENST00000545697,;LTBP4,missense_variant,p.Arg644Cys,ENST00000308370,;LTBP4,missense_variant,p.Arg577Cys,ENST00000396819,;LTBP4,missense_variant,p.Arg607Cys,ENST00000204005,;LTBP4,upstream_gene_variant,,ENST00000601032,;LTBP4,upstream_gene_variant,,ENST00000593463,;LTBP4,upstream_gene_variant,,ENST00000599724,;LTBP4,upstream_gene_variant,,ENST00000597071,;LTBP4,upstream_gene_variant,,ENST00000243562,;RN7SL758P,upstream_gene_variant,,ENST00000580450,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,upstream_gene_variant,,ENST00000601560,;LTBP4,upstream_gene_variant,,ENST00000598055,;LTBP4,downstream_gene_variant,,ENST00000599016,;LTBP4,upstream_gene_variant,,ENST00000595183,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598256,;LTBP4,non_coding_transcript_exon_variant,,ENST00000546155,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000594457,;LTBP4,upstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000595118,;LTBP4,upstream_gene_variant,,ENST00000318809,;LTBP4,upstream_gene_variant,,ENST00000594448,;LTBP4,upstream_gene_variant,,ENST00000597816,;LTBP4,upstream_gene_variant,,ENST00000593614,;LTBP4,upstream_gene_variant,,ENST00000601464,;LTBP4,upstream_gene_variant,,ENST00000595767,;LTBP4,upstream_gene_variant,,ENST00000602251,;LTBP4,upstream_gene_variant,,ENST00000601570,;LTBP4,upstream_gene_variant,,ENST00000600499,;LTBP4,upstream_gene_variant,,ENST00000594266,;	1930	55	66	SUCCESS
EGLN2	112398	.	GRCh37	19	41306750	41306750	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	51	0	ENST00000303961.4:c.273G>A	p.Leu91=	p.L91=	ENST00000303961	NM_080732.3	91	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12567.1	273	MUTECT|MUSE	.	CCGCTGCAGAG	NONE	.	.	hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF6	.	.	ENSP00000469686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000593726	Transcript	.	.	ENSG00000269858	14660	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EGLN2_HUMAN	EGLN2	HGNC	M0R2X9_HUMAN,M0R1W4_HUMAN,M0R1A3_HUMAN,M0R110_HUMAN,M0R0Z6_HUMAN,M0R035_HUMAN,M0QXR0_HUMAN,M0QXM8_HUMAN	.	UPI0000050C8F	SNV	EGLN2,synonymous_variant,p.%3D,ENST00000593972,;EGLN2,synonymous_variant,p.%3D,ENST00000593726,;EGLN2,synonymous_variant,p.%3D,ENST00000598654,;EGLN2,synonymous_variant,p.%3D,ENST00000406058,;EGLN2,synonymous_variant,p.%3D,ENST00000303961,;EGLN2,synonymous_variant,p.%3D,ENST00000601733,;EGLN2,downstream_gene_variant,,ENST00000594380,;EGLN2,downstream_gene_variant,,ENST00000593525,;RAB4B,downstream_gene_variant,,ENST00000357052,;EGLN2,upstream_gene_variant,,ENST00000597746,;EGLN2,downstream_gene_variant,,ENST00000596517,;EGLN2,upstream_gene_variant,,ENST00000594140,;RAB4B,downstream_gene_variant,,ENST00000595728,;EGLN2,downstream_gene_variant,,ENST00000593397,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000601949,;RAB4B-EGLN2,3_prime_UTR_variant,,ENST00000594136,;CTC-490E21.12,upstream_gene_variant,,ENST00000601627,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000596216,;EGLN2,upstream_gene_variant,,ENST00000599579,;RAB4B,downstream_gene_variant,,ENST00000598430,;RAB4B,downstream_gene_variant,,ENST00000378307,;RAB4B,downstream_gene_variant,,ENST00000597476,;EGLN2,upstream_gene_variant,,ENST00000593445,;	1301	51	44	SUCCESS
ZNF234	10780	.	GRCh37	19	44661040	44661040	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146772061	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	76	0	ENST00000426739.2:c.871G>A	p.Asp291Asn	p.D291N	ENST00000426739	NM_006630.2	291	Gat/Aat	0	.	A:0	.	A:0	.	A	D/N	protein_coding	YES	CCDS46101.1	871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTGATACA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF195,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0.003	.	ENSP00000400878	A:0	6/6	.	.	.	.	.	.	.	.	rs146772061	6/6	PASS	ENST00000426739	Transcript	.	A:0.0006	ENSG00000263002	13027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	A:0	tolerated(0.12)	.	ZN234_HUMAN	ZNF234	HGNC	Q86WM3_HUMAN,Q86WM2_HUMAN	.	UPI0000070C95	SNV	ZNF234,missense_variant,p.Asp291Asn,ENST00000592437,;ZNF234,missense_variant,p.Asp291Asn,ENST00000426739,;	1129	76	87	SUCCESS
NLRP12	91662	.	GRCh37	19	54313913	54313913	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	43	0	ENST00000324134.6:c.1000C>T	p.Pro334Ser	p.P334S	ENST00000324134	NM_144687.3	334	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12864.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGAGCA	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Pro334Ser,ENST00000535162,;NLRP12,missense_variant,p.Pro334Ser,ENST00000391775,;NLRP12,missense_variant,p.Pro334Ser,ENST00000354278,;NLRP12,missense_variant,p.Pro334Ser,ENST00000391773,;NLRP12,missense_variant,p.Pro334Ser,ENST00000324134,;NLRP12,missense_variant,p.Pro334Ser,ENST00000391772,;NLRP12,missense_variant,p.Pro334Ser,ENST00000345770,;NLRP12,missense_variant,p.Pro334Ser,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	1169	43	71	SUCCESS
VAV3	10451	.	GRCh37	1	108247593	108247593	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	84	0	ENST00000370056.4:c.1593G>C	p.Gln531His	p.Q531H	ENST00000370056	NM_006113.4	531	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS785.1	1593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCTGGCA	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF50729	.	.	ENSP00000359073	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.46)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Gln466His,ENST00000371846,;VAV3,missense_variant,p.Gln526His,ENST00000490388,;VAV3,missense_variant,p.Gln83His,ENST00000529809,;VAV3,missense_variant,p.Gln531His,ENST00000370056,;VAV3,missense_variant,p.Gln531His,ENST00000527011,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;	1868	84	91	SUCCESS
HSD17B7	51478	.	GRCh37	1	162769552	162769570	+	frameshift_variant	Frame_Shift_Del	DEL	TCCTCTGTCACAGTGACAA	TCCTCTGTCACAGTGACAA	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	TCCTCTGTCACAGTGACAA	TCCTCTGTCACAGTGACAA	.	.	.	.	.	.	.	.	.	.	.	.	.	392	121	345	0	ENST00000254521.3:c.470_488del	p.Leu157HisfsTer41	p.L157Hfs*41	ENST00000254521	NM_016371.2	156	cTCCTCTGTCACAGTGACAAt/ct	0	.	.	.	.	.	-	LLCHSDN/X	protein_coding	YES	CCDS1242.1	467-485	VARSCANI*|PINDEL	.	AGCCTCTCCTCTGTCACAGTGACAATCCAT	NONE	.	.	hmmpanther:PTHR24316:SF314,hmmpanther:PTHR24316,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000254521	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000254521	Transcript	.	.	ENSG00000132196	5215	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHB7_HUMAN	HSD17B7	HGNC	.	.	UPI000004C64C	deletion	HSD17B7,frameshift_variant,p.Leu157HisfsTer41,ENST00000367917,;HSD17B7,frameshift_variant,p.Leu157HisfsTer41,ENST00000254521,;HSD17B7,downstream_gene_variant,,ENST00000367913,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000463037,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000485405,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000484251,;HSD17B7,3_prime_UTR_variant,,ENST00000466176,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000494450,;HSD17B7,upstream_gene_variant,,ENST00000488656,;HSD17B7,upstream_gene_variant,,ENST00000470195,;	522-540	345	513	SUCCESS
ESPNP	284729	.	GRCh37	1	17022987	17022987	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs777474516	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	65	0	ENST00000270691.4:n.1877G>A		p.*626*	ENST00000270691				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGCTTC	NONE	byFrequency|byCluster	.	.	.	.	.	.	10/11	.	.	.	.	.	.	.	.	rs777474516	10/11	PASS	ENST00000270691	Transcript	.	.	ENSG00000268869	23285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ESPNP	HGNC	.	.	.	SNV	ESPNP,non_coding_transcript_exon_variant,,ENST00000492551,;ESPNP,upstream_gene_variant,,ENST00000414828,;ESPNP,non_coding_transcript_exon_variant,,ENST00000270691,;	1877	65	68	SUCCESS
ESPNP	284729	.	GRCh37	1	17022988	17022988	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs564191654	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	68	0	ENST00000270691.4:n.1876C>A		p.*626*	ENST00000270691				0	.	A:0.0008	.	A:0	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCTTCC	NONE	byFrequency|by1000G	.	.	A:0	.	.	A:0	10/11	.	.	.	.	.	.	.	.	rs564191654	10/11	PASS	ENST00000270691	Transcript	.	A:0.0004	ENSG00000268869	23285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	.	ESPNP	HGNC	.	.	.	SNV	ESPNP,non_coding_transcript_exon_variant,,ENST00000492551,;ESPNP,upstream_gene_variant,,ENST00000414828,;ESPNP,non_coding_transcript_exon_variant,,ENST00000270691,;	1876	68	75	SUCCESS
AKR7A2	8574	.	GRCh37	1	19630804	19630805	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	154	35	189	0	ENST00000235835.3:c.994dup	p.Glu332GlyfsTer13	p.E332Gfs*13	ENST00000235835	NM_003689.3	332	gaa/gGaa	0	.	.	.	.	.	C	E/GX	protein_coding	YES	CCDS194.1	994-995	INDELOCATOR|VARSCANI	.	GCCCTTCCTCT	NONE	.	.	Superfamily_domains:SSF51430,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF157,hmmpanther:PTHR11732	.	.	ENSP00000235835	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000235835	Transcript	.	.	ENSG00000053371	389	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARK72_HUMAN	AKR7A2	HGNC	.	.	UPI00001D965B	insertion	AKR7A2,frameshift_variant,p.Glu332GlyfsTer13,ENST00000235835,;AKR7A2,frameshift_variant,p.Arg195LysfsTer?,ENST00000489286,;AKR7A2,frameshift_variant,p.Glu287GlyfsTer13,ENST00000330072,;RNU6-1099P,downstream_gene_variant,,ENST00000363533,;AKR7A2,3_prime_UTR_variant,,ENST00000481966,;AKR7A2,downstream_gene_variant,,ENST00000492217,;	1016-1017	189	190	SUCCESS
AKR7A2	8574	.	GRCh37	1	19630807	19630808	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TCCG	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	145	28	190	0	ENST00000235835.3:c.991_992insCGGA	p.Glu331AlafsTer15	p.E331Afs*15	ENST00000235835	NM_003689.3	331	gag/gCGGAag	0	.	.	.	.	.	TCCG	E/AEX	protein_coding	YES	CCDS194.1	991-992	INDELOCATOR|RADIA|VARSCANI	.	CTTCCTCTGTT	NONE	.	.	Superfamily_domains:SSF51430,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF157,hmmpanther:PTHR11732	.	.	ENSP00000235835	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000235835	Transcript	.	.	ENSG00000053371	389	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARK72_HUMAN	AKR7A2	HGNC	.	.	UPI00001D965B	insertion	AKR7A2,frameshift_variant,p.Glu331AlafsTer15,ENST00000235835,;AKR7A2,frameshift_variant,p.Arg193SerfsTer?,ENST00000489286,;AKR7A2,frameshift_variant,p.Glu286AlafsTer15,ENST00000330072,;RNU6-1099P,downstream_gene_variant,,ENST00000363533,;AKR7A2,3_prime_UTR_variant,,ENST00000481966,;AKR7A2,downstream_gene_variant,,ENST00000492217,;	1013-1014	190	173	SUCCESS
LRRN2	10446	.	GRCh37	1	204588798	204588798	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	70	149	0	ENST00000367175.1:c.323C>T	p.Ala108Val	p.A108V	ENST00000367175		108	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1448.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGGCATCC	BUFFER|p.S106L|c.317C>T|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF9,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000356143	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367175	Transcript	.	.	ENSG00000170382	16914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	LRRN2_HUMAN	LRRN2	HGNC	B3KM66_HUMAN	.	UPI000013E8AC	SNV	LRRN2,missense_variant,p.Ala108Val,ENST00000367177,;LRRN2,missense_variant,p.Ala108Val,ENST00000367176,;LRRN2,missense_variant,p.Ala108Val,ENST00000367175,;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	2536	149	258	SUCCESS
MTR	4548	.	GRCh37	1	236973846	236973846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	121	141	1	ENST00000366577.5:c.453G>T	p.Lys151Asn	p.K151N	ENST00000366577	NM_000254.2	151	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS1614.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAAGACACT	NONE	.	.	Superfamily_domains:SSF82282,PIRSF_domain:PIRSF000381,Pfam_domain:PF02574,TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.330,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS50970	.	.	ENSP00000355536	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000366577	Transcript	.	.	ENSG00000116984	7468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	METH_HUMAN	MTR	HGNC	.	.	UPI0000036BC4	SNV	MTR,missense_variant,p.Lys207Asn,ENST00000418145,;MTR,missense_variant,p.Lys151Asn,ENST00000366577,;MTR,missense_variant,p.Lys151Asn,ENST00000535889,;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;	847	142	188	SUCCESS
AKT3	10000	.	GRCh37	1	243777036	243777036	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs550697644	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	684	271	665	1	ENST00000263826.5:c.633G>T	p.Leu211Phe	p.L211F	ENST00000263826	NM_005465.4	211	ttG/ttT	0	.	T:0	.	T:0	.	A	L/F	protein_coding	YES	CCDS31077.1	633	RADIA|VARSCANS	.	TATTTCAAGGA	NONE	by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF29,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	T:0	.	ENSP00000355497	T:0	8/14	.	.	.	.	.	.	.	.	rs550697644	8/14	PASS	ENST00000366539	Transcript	.	T:0.0002	ENSG00000117020	393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	T:0.001	deleterious(0)	.	AKT3_HUMAN	AKT3	HGNC	F8VS91_HUMAN	.	UPI00000335E8	SNV	AKT3,missense_variant,p.Leu211Phe,ENST00000263826,;AKT3,missense_variant,p.Leu211Phe,ENST00000366539,;AKT3,missense_variant,p.Leu211Phe,ENST00000336199,;AKT3,missense_variant,p.Leu211Phe,ENST00000366540,;AKT3,non_coding_transcript_exon_variant,,ENST00000492957,;	834	666	955	SUCCESS
OR2G2	81470	.	GRCh37	1	247752346	247752346	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	60	119	0	ENST00000320065.1:c.685T>A	p.Leu229Met	p.L229M	ENST00000320065	NM_001001915.1	229	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS31092.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGTTGAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326349	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320065	Transcript	.	.	ENSG00000177489	15007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.1)	.	OR2G2_HUMAN	OR2G2	HGNC	.	.	UPI0000061EB9	SNV	OR2G2,missense_variant,p.Leu229Met,ENST00000320065,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	685	119	212	SUCCESS
IQCC	55721	.	GRCh37	1	32672166	32672166	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	282	116	241	0	ENST00000291358.6:c.246del	p.Leu83CysfsTer21	p.L83Cfs*21	ENST00000291358	NM_018134.2	81	caG/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS53293.1	483	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGCAGGGGCT	NONE	.	.	hmmpanther:PTHR16049	.	.	ENSP00000442291	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000537469	Transcript	.	.	ENSG00000160051	25545	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IQCC_HUMAN	IQCC	HGNC	.	.	UPI0001A42065	deletion	IQCC,frameshift_variant,p.Leu83CysfsTer21,ENST00000291358,;IQCC,frameshift_variant,p.Leu163CysfsTer21,ENST00000537469,;CCDC28B,downstream_gene_variant,,ENST00000373602,;DCDC2B,upstream_gene_variant,,ENST00000409358,;CCDC28B,downstream_gene_variant,,ENST00000421922,;RP4-622L5.7,intron_variant,,ENST00000421616,;RP4-622L5.7,upstream_gene_variant,,ENST00000373604,;CCDC28B,downstream_gene_variant,,ENST00000483009,;CCDC28B,downstream_gene_variant,,ENST00000469003,;CCDC28B,downstream_gene_variant,,ENST00000461819,;DCDC2B,upstream_gene_variant,,ENST00000487056,;	530	241	398	SUCCESS
HDAC1	3065	.	GRCh37	1	32796502	32796502	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	46	76	0	ENST00000373548.3:c.972C>A	p.Ile324=	p.I324=	ENST00000373548	NM_004964.2	324	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS360.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCCCTAA	NONE	.	.	hmmpanther:PTHR10625:SF113,hmmpanther:PTHR10625,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768	.	.	ENSP00000362649	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000373548	Transcript	.	.	ENSG00000116478	4852	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC1_HUMAN	HDAC1	HGNC	Q6IT96_HUMAN,F5GXM1_HUMAN	.	UPI0000035528	SNV	HDAC1,synonymous_variant,p.%3D,ENST00000373548,;HDAC1,synonymous_variant,p.%3D,ENST00000373541,;HDAC1,downstream_gene_variant,,ENST00000428704,;MARCKSL1,downstream_gene_variant,,ENST00000329421,;HDAC1,non_coding_transcript_exon_variant,,ENST00000490081,;HDAC1,non_coding_transcript_exon_variant,,ENST00000482310,;HDAC1,downstream_gene_variant,,ENST00000481281,;HDAC1,downstream_gene_variant,,ENST00000463172,;HDAC1,downstream_gene_variant,,ENST00000472928,;HDAC1,non_coding_transcript_exon_variant,,ENST00000476391,;HDAC1,upstream_gene_variant,,ENST00000471488,;HDAC1,downstream_gene_variant,,ENST00000484305,;	1056	77	101	SUCCESS
C1orf94	84970	.	GRCh37	1	34643459	34643459	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	44	0	ENST00000488417.1:c.69G>C	p.Arg23Ser	p.R23S	ENST00000488417	NM_001134734.1	23	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS44108.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGATGGC	NONE	.	.	.	.	.	ENSP00000435634	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated_low_confidence(0.17)	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,missense_variant,p.Arg23Ser,ENST00000488417,;C1orf94,intron_variant,,ENST00000373374,;AC115286.1,upstream_gene_variant,,ENST00000408126,;	189	44	74	SUCCESS
STIL	6491	.	GRCh37	1	47717254	47717254	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	49	97	1	ENST00000360380.3:c.3418G>T	p.Glu1140Ter	p.E1140*	ENST00000360380	NM_001282936.1	1140	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS41329.1	3421	RADIA|VARSCANS	.	AGGTTCCTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0	.	.	ENSP00000360944	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	SNV	STIL,stop_gained,p.Glu1140Ter,ENST00000337817,;STIL,stop_gained,p.Glu1123Ter,ENST00000396221,;STIL,stop_gained,p.Glu1141Ter,ENST00000371877,;STIL,stop_gained,p.Glu1140Ter,ENST00000360380,;STIL,stop_gained,p.Glu1140Ter,ENST00000243182,;	3569	98	109	SUCCESS
STIL	6491	.	GRCh37	1	47717255	47717255	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	49	103	0	ENST00000360380.3:c.3417G>A	p.Glu1139=	p.E1139=	ENST00000360380	NM_001282936.1	1139	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS41329.1	3420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0	.	.	ENSP00000360944	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	SNV	STIL,synonymous_variant,p.%3D,ENST00000337817,;STIL,synonymous_variant,p.%3D,ENST00000396221,;STIL,synonymous_variant,p.%3D,ENST00000371877,;STIL,synonymous_variant,p.%3D,ENST00000360380,;STIL,synonymous_variant,p.%3D,ENST00000243182,;	3568	103	112	SUCCESS
SAMHD1	25939	.	GRCh37	20	35563535	35563535	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs759395195	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	71	138	0	ENST00000262878.4:c.406A>T	p.Ile136Phe	p.I136F	ENST00000262878	NM_015474.3	136	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS13288.1	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAATGATTC	NONE	.	.	hmmpanther:PTHR11373:SF4,hmmpanther:PTHR11373,Gene3D:1.10.3210.10,Superfamily_domains:SSF109604	.	.	ENSP00000262878	.	4/16	.	.	.	.	.	.	.	.	rs759395195	4/16	PASS	ENST00000262878	Transcript	1	.	ENSG00000101347	15925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	SAMH1_HUMAN	SAMHD1	HGNC	A6NDZ3_HUMAN	.	UPI0000035DA0	SNV	SAMHD1,missense_variant,p.Ile136Phe,ENST00000262878,;SAMHD1,5_prime_UTR_variant,,ENST00000373694,;	606	138	165	SUCCESS
TIAM1	7074	.	GRCh37	21	32638770	32638770	+	synonymous_variant	Silent	SNP	T	T	A	rs778924729	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	61	0	ENST00000286827.3:c.519A>T	p.Ala173=	p.A173=	ENST00000286827	NM_003253.2	173	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13609.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCTGCAGA	NONE	.	.	hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826	.	.	ENSP00000286827	.	5/29	.	.	.	.	.	.	.	.	rs778924729	5/29	PASS	ENST00000286827	Transcript	.	.	ENSG00000156299	11805	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIAM1_HUMAN	TIAM1	HGNC	C9JMB5_HUMAN	.	UPI000013DE6F	SNV	TIAM1,synonymous_variant,p.%3D,ENST00000286827,;TIAM1,synonymous_variant,p.%3D,ENST00000541036,;TIAM1,synonymous_variant,p.%3D,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	991	61	60	SUCCESS
RRP1	8568	.	GRCh37	21	45217260	45217260	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	19	0	ENST00000497547.1:c.423-43G>T		p.*141*	ENST00000497547	NM_003683.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42951.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTGGGGCTCAT	NONE	.	.	.	.	.	ENSP00000417464	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000497547	Transcript	.	.	ENSG00000160214	18785	.	.	MODIFIER	5/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RRP1_HUMAN	RRP1	HGNC	.	.	UPI0000130286	SNV	RRP1,intron_variant,,ENST00000497547,;RRP1,non_coding_transcript_exon_variant,,ENST00000471909,;RRP1,intron_variant,,ENST00000475534,;RRP1,intron_variant,,ENST00000467112,;RRP1,intron_variant,,ENST00000483896,;RRP1,downstream_gene_variant,,ENST00000492638,;	.	19	19	SUCCESS
RRP1	8568	.	GRCh37	21	45217261	45217261	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	20	0	ENST00000497547.1:c.423-42C>T		p.*141*	ENST00000497547	NM_003683.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42951.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCTCATC	NONE	.	.	.	.	.	ENSP00000417464	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000497547	Transcript	.	.	ENSG00000160214	18785	.	.	MODIFIER	5/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RRP1_HUMAN	RRP1	HGNC	.	.	UPI0000130286	SNV	RRP1,intron_variant,,ENST00000497547,;RRP1,non_coding_transcript_exon_variant,,ENST00000471909,;RRP1,intron_variant,,ENST00000475534,;RRP1,intron_variant,,ENST00000467112,;RRP1,intron_variant,,ENST00000483896,;RRP1,downstream_gene_variant,,ENST00000492638,;	.	20	19	SUCCESS
ZMAT5	55954	.	GRCh37	22	30144469	30144469	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	80	0	ENST00000344318.3:c.65A>G	p.Lys22Arg	p.K22R	ENST00000344318	NM_001003692.1	22	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13868.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTTGCGG	NONE	.	.	hmmpanther:PTHR16465:SF0,hmmpanther:PTHR16465,Pfam_domain:PF06220,Superfamily_domains:SSF57667	.	.	ENSP00000380883	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000397781	Transcript	.	.	ENSG00000100319	28046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZMAT5_HUMAN	ZMAT5	HGNC	.	.	UPI0000072567	SNV	ZMAT5,missense_variant,p.Lys22Arg,ENST00000397781,;ZMAT5,missense_variant,p.Lys22Arg,ENST00000344318,;ZMAT5,non_coding_transcript_exon_variant,,ENST00000489010,;	316	80	97	SUCCESS
ARFGAP3	26286	.	GRCh37	22	43227599	43227599	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs754824003	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	38	85	0	ENST00000263245.5:c.521C>G	p.Ser174Cys	p.S174C	ENST00000263245	NM_014570.4	174	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS14042.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAGAAGAT	NONE	byFrequency	.	hmmpanther:PTHR23180:SF208,hmmpanther:PTHR23180	.	.	ENSP00000263245	.	6/16	.	.	.	.	.	.	.	.	rs754824003	6/16	PASS	ENST00000263245	Transcript	.	.	ENSG00000242247	661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.08)	.	ARFG3_HUMAN	ARFGAP3	HGNC	.	.	UPI0000125DF8	SNV	ARFGAP3,missense_variant,p.Ser21Cys,ENST00000453516,;ARFGAP3,missense_variant,p.Ser130Cys,ENST00000437119,;ARFGAP3,missense_variant,p.Ser102Cys,ENST00000454099,;ARFGAP3,missense_variant,p.Ser174Cys,ENST00000263245,;ARFGAP3,missense_variant,p.Ser102Cys,ENST00000429508,;ARFGAP3,downstream_gene_variant,,ENST00000435208,;PACSIN2,downstream_gene_variant,,ENST00000507586,;	741	85	79	SUCCESS
ITGB6	3694	.	GRCh37	2	161052880	161052880	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369726068	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	91	0	ENST00000283249.2:c.193C>T	p.Leu65Phe	p.L65F	ENST00000283249	NM_001282388.1	65	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS2212.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAGGTTTG	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00423,SMART_domains:SM00187,Superfamily_domains:SSF103575,Prints_domain:PR01186	.	.	ENSP00000283249	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000283249	Transcript	.	.	ENSG00000115221	6161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITB6_HUMAN	ITGB6	HGNC	.	.	UPI000012DA13	SNV	ITGB6,missense_variant,p.Leu23Phe,ENST00000428609,;ITGB6,missense_variant,p.Leu65Phe,ENST00000409872,;ITGB6,missense_variant,p.Leu65Phe,ENST00000409967,;ITGB6,missense_variant,p.Leu65Phe,ENST00000283249,;ITGB6,non_coding_transcript_exon_variant,,ENST00000485635,;ITGB6,downstream_gene_variant,,ENST00000498478,;ITGB6,intron_variant,,ENST00000409583,;	431	91	109	SUCCESS
TTN	7273	.	GRCh37	2	179456870	179456870	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	84	0	ENST00000591111.1:c.54838A>G	p.Ser18280Gly	p.S18280G	ENST00000591111		18280	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS59435.1	59761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCTGGCAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	302/363	.	.	.	.	.	.	.	.	.	302/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ser10981Gly,ENST00000359218,;TTN,missense_variant,p.Ser18280Gly,ENST00000591111,;TTN,missense_variant,p.Ser19921Gly,ENST00000589042,;TTN,missense_variant,p.Ser11048Gly,ENST00000342175,;TTN,missense_variant,p.Ser17353Gly,ENST00000342992,;TTN,missense_variant,p.Ser10856Gly,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;	59986	84	92	SUCCESS
NDUFS1	4719	.	GRCh37	2	206991519	206991519	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	64	154	0	ENST00000233190.6:c.1934G>T	p.Arg645Ile	p.R645I	ENST00000233190	NM_005006.6	645	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS56165.1	1976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATCTGTTC	NONE	.	.	hmmpanther:PTHR11615:SF115,hmmpanther:PTHR11615,Gene3D:3.40.50.740,Superfamily_domains:SSF53706	.	.	ENSP00000392709	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000455934	Transcript	.	.	ENSG00000023228	7707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	NDUS1_HUMAN	NDUFS1	HGNC	E5KRK5_HUMAN,Q9P1A0_HUMAN,C9JPQ5_HUMAN,B4DJ81_HUMAN	.	UPI0000EE3600	SNV	NDUFS1,missense_variant,p.Arg659Ile,ENST00000455934,;NDUFS1,missense_variant,p.Arg609Ile,ENST00000440274,;NDUFS1,missense_variant,p.Arg529Ile,ENST00000457011,;NDUFS1,missense_variant,p.Arg645Ile,ENST00000449699,;NDUFS1,missense_variant,p.Arg534Ile,ENST00000432169,;NDUFS1,missense_variant,p.Arg645Ile,ENST00000233190,;NDUFS1,missense_variant,p.Arg588Ile,ENST00000423725,;AC007383.4,downstream_gene_variant,,ENST00000453039,;NDUFS1,downstream_gene_variant,,ENST00000498520,;	2037	154	164	SUCCESS
OBSL1	23363	.	GRCh37	2	220422328	220422328	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150155792	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	66	0	ENST00000404537.1:c.3803G>T	p.Arg1268Leu	p.R1268L	ENST00000404537	NM_015311.2	1268	cGg/cTg	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS46520.1	3803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCGCACA	NONE	by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	T:0	.	ENSP00000385636	T:0.001	12/21	.	.	.	.	.	.	.	.	rs150155792	12/21	PASS	ENST00000404537	Transcript	.	T:0.0002	ENSG00000124006	29092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.574)	T:0	tolerated(0.34)	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,missense_variant,p.Arg1268Leu,ENST00000603926,;OBSL1,missense_variant,p.Arg1176Leu,ENST00000265318,;OBSL1,missense_variant,p.Arg1268Leu,ENST00000404537,;OBSL1,intron_variant,,ENST00000456147,;OBSL1,intron_variant,,ENST00000373876,;OBSL1,intron_variant,,ENST00000604031,;OBSL1,intron_variant,,ENST00000265317,;OBSL1,downstream_gene_variant,,ENST00000289656,;OBSL1,downstream_gene_variant,,ENST00000373873,;RP11-256I23.2,upstream_gene_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000489804,;OBSL1,upstream_gene_variant,,ENST00000596474,;	3860	67	64	SUCCESS
DAW1	164781	.	GRCh37	2	228767773	228767773	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs145956341	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	13	200	0	ENST00000309931.2:c.596C>A	p.Thr199Lys	p.T199K	ENST00000309931	NM_178821.1	199	aCa/aAa	0	.	A:0	.	A:0	.	A	T/K	protein_coding	YES	CCDS2470.1	596	MUTECT|MUSE	.	GGACACAACAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320	A:0.001	.	ENSP00000311899	A:0	7/13	.	.	.	.	.	.	.	.	rs145956341	7/13	common_in_exac	ENST00000309931	Transcript	.	A:0.0042	ENSG00000123977	26383	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.261)	A:0.0204	tolerated(0.55)	.	DAW1_HUMAN	DAW1	HGNC	G5EA46_HUMAN,C9JP90_HUMAN	.	UPI000006EAC6	SNV	DAW1,missense_variant,p.Thr184Lys,ENST00000545118,;DAW1,missense_variant,p.Thr199Lys,ENST00000309931,;DAW1,missense_variant,p.Thr199Lys,ENST00000373666,;DAW1,3_prime_UTR_variant,,ENST00000454999,;	679	200	220	SUCCESS
DGKD	8527	.	GRCh37	2	234296942	234296942	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	257	9	259	0	ENST00000264057.2:c.196T>G	p.Ser66Ala	p.S66A	ENST00000264057	NM_152879.2	66	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS2504.1	196	MUTECT|MUSE	.	ACAATTCATTC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000264057	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,missense_variant,p.Ser36Ala,ENST00000447484,;DGKD,missense_variant,p.Ser66Ala,ENST00000264057,;DGKD,missense_variant,p.Ser22Ala,ENST00000409813,;DGKD,intron_variant,,ENST00000427930,;AC019221.4,non_coding_transcript_exon_variant,,ENST00000442524,;DGKD,non_coding_transcript_exon_variant,,ENST00000489613,;	208	259	267	SUCCESS
ILKAP	80895	.	GRCh37	2	239092696	239092697	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	97	24	81	0	ENST00000254654.3:c.590dup	p.His197GlnfsTer3	p.H197Qfs*3	ENST00000254654	NM_030768.2	197	cat/caAt	0	.	.	.	.	.	T	H/QX	protein_coding	YES	CCDS2526.1	590-591	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGTATGCTT	NONE	.	.	hmmpanther:PTHR13832:SF257,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000254654	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000254654	Transcript	.	.	ENSG00000132323	15566	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ILKAP_HUMAN	ILKAP	HGNC	.	.	UPI000007307E	insertion	ILKAP,frameshift_variant,p.His195GlnfsTer3,ENST00000457149,;ILKAP,frameshift_variant,p.His197GlnfsTer3,ENST00000254654,;ILKAP,frameshift_variant,p.His14GlnfsTer3,ENST00000450411,;ILKAP,non_coding_transcript_exon_variant,,ENST00000463129,;ILKAP,non_coding_transcript_exon_variant,,ENST00000466468,;ILKAP,non_coding_transcript_exon_variant,,ENST00000479400,;	766-767	81	121	SUCCESS
CAPN13	92291	.	GRCh37	2	30993238	30993238	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	45	102	0	ENST00000295055.8:c.465G>A	p.Val155=	p.V155=	ENST00000295055	NM_144575.2	155	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46252.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCACAAA	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	.	ENSP00000295055	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,synonymous_variant,p.%3D,ENST00000534090,;CAPN13,synonymous_variant,p.%3D,ENST00000295055,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,synonymous_variant,p.%3D,ENST00000458085,;CAPN13,3_prime_UTR_variant,,ENST00000485248,;	642	102	126	SUCCESS
EML6	400954	.	GRCh37	2	55056571	55056571	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	63	0	ENST00000356458.6:c.804A>G	p.Pro268=	p.P268=	ENST00000356458	NM_001039753.2	268	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46286.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAATAAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF8,hmmpanther:PTHR13720,Superfamily_domains:SSF50998	.	.	ENSP00000348842	.	6/41	.	.	.	.	.	.	.	.	.	6/41	PASS	ENST00000356458	Transcript	.	.	ENSG00000214595	35412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMAL6_HUMAN	EML6	HGNC	.	.	UPI00006C0432	SNV	EML6,synonymous_variant,p.%3D,ENST00000356458,;	1324	63	81	SUCCESS
GMCL1	64395	.	GRCh37	2	70106092	70106092	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	80	200	0	ENST00000282570.3:c.1504A>G	p.Ile502Val	p.I502V	ENST00000282570	NM_178439.3	502	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1895.1	1504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATATCTGC	NONE	.	.	hmmpanther:PTHR23231:SF11,hmmpanther:PTHR23231	.	.	ENSP00000282570	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000282570	Transcript	.	.	ENSG00000087338	23843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.54)	.	GMCL1_HUMAN	GMCL1	HGNC	Q53SE7_HUMAN	.	UPI00000704BE	SNV	GMCL1,missense_variant,p.Ile502Val,ENST00000282570,;GMCL1,non_coding_transcript_exon_variant,,ENST00000495047,;	1755	200	210	SUCCESS
ZPLD1	131368	.	GRCh37	3	102175181	102175181	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	93	142	1	ENST00000466937.1:c.472C>A	p.Pro158Thr	p.P158T	ENST00000466937		158	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS2947.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCCATTG	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962,PROSITE_profiles:PS51034	.	.	ENSP00000307801	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000306176	Transcript	.	.	ENSG00000170044	27022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ZPLD1_HUMAN	ZPLD1	HGNC	.	.	UPI000006EC89	SNV	ZPLD1,missense_variant,p.Pro158Thr,ENST00000466937,;ZPLD1,missense_variant,p.Pro174Thr,ENST00000306176,;ZPLD1,missense_variant,p.Pro158Thr,ENST00000491959,;	620	143	203	SUCCESS
ATP2B2	491	.	GRCh37	3	10384457	10384457	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	61	0	ENST00000352432.4:c.2896A>G	p.Ile966Val	p.I966V	ENST00000352432		966	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33701.1	2896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATGAGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00689,Gene3D:1.20.1110.10,Superfamily_domains:0049473	.	.	ENSP00000353414	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.19)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Ile952Val,ENST00000343816,;ATP2B2,missense_variant,p.Ile966Val,ENST00000360273,;ATP2B2,missense_variant,p.Ile921Val,ENST00000383800,;ATP2B2,missense_variant,p.Ile966Val,ENST00000352432,;ATP2B2,missense_variant,p.Ile921Val,ENST00000397077,;ATP2B2,missense_variant,p.Ile822Val,ENST00000452124,;ATP2B2,missense_variant,p.Ile921Val,ENST00000460129,;	3335	61	58	SUCCESS
TPRA1	131601	.	GRCh37	3	127294839	127294839	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1156631806	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	116	345	1	ENST00000355552.3:c.553A>G	p.Ile185Val	p.I185V	ENST00000355552	NM_001136053.2	185	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3042.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGATATTAA	NONE	.	.	hmmpanther:PTHR15876,Pfam_domain:PF10160	.	.	ENSP00000347748	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000355552	Transcript	.	.	ENSG00000163870	30413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.44)	.	TPRA1_HUMAN	TPRA1	HGNC	C9JZ00_HUMAN,C9JVW5_HUMAN,C9JU06_HUMAN,C9J5C7_HUMAN	.	UPI00000373F2	SNV	TPRA1,missense_variant,p.Ile185Val,ENST00000469111,;TPRA1,missense_variant,p.Ile185Val,ENST00000450633,;TPRA1,missense_variant,p.Ile185Val,ENST00000296210,;TPRA1,missense_variant,p.Ile185Val,ENST00000355552,;TPRA1,missense_variant,p.Ile185Val,ENST00000489960,;TPRA1,missense_variant,p.Ile185Val,ENST00000490290,;TPRA1,downstream_gene_variant,,ENST00000462228,;TPRA1,downstream_gene_variant,,ENST00000490643,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,missense_variant,p.Ile185Val,ENST00000483868,;TPRA1,missense_variant,p.Ile185Val,ENST00000393400,;	930	346	298	SUCCESS
MGLL	11343	.	GRCh37	3	127441310	127441310	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765489619	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	102	0	ENST00000398104.1:c.332A>G	p.Tyr111Cys	p.Y111C	ENST00000398104	NM_001003794.2	111	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46902.1	362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTAGTCT	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	4/8	.	.	.	.	.	.	.	.	rs765489619	4/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.01)	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,missense_variant,p.Tyr121Cys,ENST00000265052,;MGLL,missense_variant,p.Tyr121Cys,ENST00000453507,;MGLL,missense_variant,p.Tyr48Cys,ENST00000493611,;MGLL,missense_variant,p.Tyr111Cys,ENST00000398104,;MGLL,missense_variant,p.Tyr35Cys,ENST00000484451,;MGLL,missense_variant,p.Tyr35Cys,ENST00000487473,;MGLL,missense_variant,p.Tyr85Cys,ENST00000398101,;MGLL,missense_variant,p.Tyr111Cys,ENST00000434178,;MGLL,upstream_gene_variant,,ENST00000496306,;MGLL,non_coding_transcript_exon_variant,,ENST00000465597,;MGLL,non_coding_transcript_exon_variant,,ENST00000479967,;MGLL,downstream_gene_variant,,ENST00000476654,;	902	102	95	SUCCESS
MGLL	11343	.	GRCh37	3	127540591	127540591	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs771477969	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	87	0	ENST00000398104.1:c.71A>C	p.Asn24Thr	p.N24T	ENST00000398104	NM_001003794.2	24	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS46902.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATTGACC	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	2/8	.	.	.	.	.	.	.	.	rs771477969	2/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,missense_variant,p.Asn34Thr,ENST00000265052,;MGLL,missense_variant,p.Asn24Thr,ENST00000494830,;MGLL,missense_variant,p.Asn34Thr,ENST00000453507,;MGLL,missense_variant,p.Asn24Thr,ENST00000398104,;MGLL,missense_variant,p.Asn24Thr,ENST00000434178,;MGLL,non_coding_transcript_exon_variant,,ENST00000479967,;	641	87	85	SUCCESS
SEC61A1	29927	.	GRCh37	3	127785873	127785873	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1226129636	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	56	128	0	ENST00000243253.3:c.854A>G	p.Tyr285Cys	p.Y285C	ENST00000243253	NM_013336.3	285	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3046.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTATACGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10906,Gene3D:1.10.3370.10,TIGRFAM_domain:TIGR00967,Pfam_domain:PF00344,PIRSF_domain:PIRSF004557,Superfamily_domains:0043235	.	.	ENSP00000243253	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000243253	Transcript	.	.	ENSG00000058262	18276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	S61A1_HUMAN	SEC61A1	HGNC	B3KNG2_HUMAN,C9JXC6_HUMAN,B3KNF6_HUMAN,B3KME8_HUMAN	.	UPI00000041A9	SNV	SEC61A1,missense_variant,p.Tyr165Cys,ENST00000424880,;SEC61A1,missense_variant,p.Tyr285Cys,ENST00000243253,;SEC61A1,missense_variant,p.Tyr291Cys,ENST00000464451,;RUVBL1,intron_variant,,ENST00000472125,;RUVBL1,intron_variant,,ENST00000464873,;SEC61A1,non_coding_transcript_exon_variant,,ENST00000483956,;SEC61A1,upstream_gene_variant,,ENST00000498837,;RUVBL1,intron_variant,,ENST00000585057,;	1038	128	157	SUCCESS
ASTE1	28990	.	GRCh37	3	130743203	130743232	+	inframe_deletion	In_Frame_Del	DEL	GACATAAGTACCACACTGGAAGAAGTCCTG	GACATAAGTACCACACTGGAAGAAGTCCTG	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	GACATAAGTACCACACTGGAAGAAGTCCTG	GACATAAGTACCACACTGGAAGAAGTCCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	82	29	124	0	ENST00000264992.3:c.919_948del	p.Gln307_Val316del	p.Q307_V316del	ENST00000264992	NM_014065.2	307	CAGGACTTCTTCCAGTGTGGTACTTATGTC/-	0	.	.	.	.	.	-	QDFFQCGTYV/-	protein_coding	YES	CCDS3068.1	919-948	INDELOCATOR|VARSCANI	.	TGGACAGACATAAGTACCACACTGGAAGAAGTCCTGTAGCT	NONE	.	.	hmmpanther:PTHR15665	.	.	ENSP00000264992	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000264992	Transcript	.	.	ENSG00000034533	25021	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASTE1_HUMAN	ASTE1	HGNC	D6RJF1_HUMAN,D6R9W5_HUMAN	.	UPI00001B6B0B	deletion	ASTE1,inframe_deletion,p.Gln307_Val316del,ENST00000264992,;ASTE1,inframe_deletion,p.Gln307_Val316del,ENST00000514044,;ASTE1,intron_variant,,ENST00000505290,;NEK11,upstream_gene_variant,,ENST00000383366,;ASTE1,downstream_gene_variant,,ENST00000509060,;ASTE1,downstream_gene_variant,,ENST00000504725,;ASTE1,downstream_gene_variant,,ENST00000505545,;NEK11,upstream_gene_variant,,ENST00000356918,;NEK11,upstream_gene_variant,,ENST00000507910,;NEK11,upstream_gene_variant,,ENST00000510769,;NEK11,upstream_gene_variant,,ENST00000511262,;NEK11,upstream_gene_variant,,ENST00000412440,;NEK11,upstream_gene_variant,,ENST00000510688,;NEK11,upstream_gene_variant,,ENST00000429253,;NEK11,upstream_gene_variant,,ENST00000513550,;NEK11,upstream_gene_variant,,ENST00000507967,;ASTE1,inframe_deletion,p.Gln307_Val316del,ENST00000507978,;ASTE1,intron_variant,,ENST00000504964,;NEK11,upstream_gene_variant,,ENST00000506695,;NEK11,upstream_gene_variant,,ENST00000514915,;NEK11,upstream_gene_variant,,ENST00000510474,;	1361-1390	124	111	SUCCESS
NPHP3	27031	.	GRCh37	3	132413781	132413781	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	88	0	ENST00000337331.5:c.2200A>G	p.Ile734Val	p.I734V	ENST00000337331	NM_153240.4	734	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3078.1	2200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATTTTAT	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959	.	.	ENSP00000338766	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000337331	Transcript	.	.	ENSG00000113971	7907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.56)	.	NPHP3_HUMAN	NPHP3	HGNC	.	.	UPI00001B6B30	SNV	NPHP3,missense_variant,p.Ile734Val,ENST00000337331,;NPHP3,3_prime_UTR_variant,,ENST00000326682,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;NPHP3,3_prime_UTR_variant,,ENST00000465756,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;NPHP3,non_coding_transcript_exon_variant,,ENST00000515289,;NPHP3,upstream_gene_variant,,ENST00000474871,;	2287	88	88	SUCCESS
MED12L	116931	.	GRCh37	3	151105931	151105931	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1307977762	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	19	0	ENST00000474524.1:c.5317C>T	p.Arg1773Cys	p.R1773C	ENST00000474524	NM_053002.4	1773	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS33876.1	5317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCGCAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5	.	.	ENSP00000417235	.	35/43	.	.	.	.	.	.	.	.	.	35/43	PASS	ENST00000474524	Transcript	.	.	ENSG00000144893	16050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MD12L_HUMAN	MED12L	HGNC	.	.	UPI000020A46B	SNV	MED12L,missense_variant,p.Arg1773Cys,ENST00000474524,;MED12L,missense_variant,p.Arg1633Cys,ENST00000273432,;P2RY12,upstream_gene_variant,,ENST00000302632,;	5355	19	19	SUCCESS
DGKG	1608	.	GRCh37	3	185970881	185970883	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	CCT	CCT	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	CCT	CCT	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	51	0	ENST00000265022.3:c.1599_1600+1del		p.X533_splice	ENST00000265022	NM_001080744.1	533		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3274.1	1599-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTCACCTCCTCC	NONE	.	.	.	.	.	ENSP00000265022	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000265022	Transcript	.	.	ENSG00000058866	2853	.	.	HIGH	18/24	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	deletion	DGKG,splice_donor_variant,,ENST00000544847,;DGKG,splice_donor_variant,,ENST00000382164,;DGKG,splice_donor_variant,,ENST00000265022,;DGKG,splice_donor_variant,,ENST00000344484,;DGKG,splice_donor_variant,,ENST00000480809,;DGKG,downstream_gene_variant,,ENST00000480933,;	2139-?	51	48	SUCCESS
KNG1	3827	.	GRCh37	3	186459957	186459957	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772102793	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	59	125	0	ENST00000265023.4:c.1772T>A	p.Ile591Asn	p.I591N	ENST00000265023	NM_001102416.2	591	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS43183.1	1772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATATCCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9	.	.	ENSP00000265023	.	10/10	.	.	.	.	.	.	.	.	rs772102793	10/10	PASS	ENST00000265023	Transcript	.	.	ENSG00000113889	6383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0)	.	KNG1_HUMAN	KNG1	HGNC	.	.	UPI000013D5AC	SNV	KNG1,missense_variant,p.Ile591Asn,ENST00000265023,;KNG1,intron_variant,,ENST00000447445,;KNG1,intron_variant,,ENST00000287611,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,downstream_gene_variant,,ENST00000596632,;RP11-573D15.8,downstream_gene_variant,,ENST00000596329,;RP11-573D15.8,downstream_gene_variant,,ENST00000609726,;RP11-573D15.8,downstream_gene_variant,,ENST00000609652,;	1984	125	142	SUCCESS
KCNH8	131096	.	GRCh37	3	19554546	19554546	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	90	152	0	ENST00000328405.2:c.2164G>T	p.Glu722Ter	p.E722*	ENST00000328405	NM_144633.2	722	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS2632.1	2164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGAGGAG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Low_complexity_(Seg):seg	.	.	ENSP00000328813	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,stop_gained,p.Glu722Ter,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	2430	152	224	SUCCESS
RNF168	165918	.	GRCh37	3	196199524	196199524	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	110	0	ENST00000318037.3:c.882A>G	p.Ile294Met	p.I294M	ENST00000318037	NM_152617.3	294	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3317.1	882	RADIA|MUTECT|MUSE	.	GACTCTATTGA	NONE	.	.	hmmpanther:PTHR23328:SF1,hmmpanther:PTHR23328	.	.	ENSP00000320898	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000318037	Transcript	.	.	ENSG00000163961	26661	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.24)	.	RN168_HUMAN	RNF168	HGNC	.	.	UPI00000741D1	SNV	RNF168,missense_variant,p.Ile294Met,ENST00000318037,;CTD-2002J20.1,upstream_gene_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,;	1477	110	139	SUCCESS
RNF168	165918	.	GRCh37	3	196199527	196199527	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	47	112	0	ENST00000318037.3:c.879A>C	p.Ser293=	p.S293=	ENST00000318037	NM_152617.3	293	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS3317.1	879	RADIA|MUTECT|MUSE	.	TCTATTGAAGA	NONE	.	.	hmmpanther:PTHR23328:SF1,hmmpanther:PTHR23328	.	.	ENSP00000320898	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000318037	Transcript	.	.	ENSG00000163961	26661	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN168_HUMAN	RNF168	HGNC	.	.	UPI00000741D1	SNV	RNF168,synonymous_variant,p.%3D,ENST00000318037,;CTD-2002J20.1,upstream_gene_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,;	1474	112	136	SUCCESS
ITGA9	3680	.	GRCh37	3	37583948	37583948	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs146867977	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	81	169	0	ENST00000264741.5:c.1565del	p.Lys522ArgfsTer27	p.K522Rfs*27	ENST00000264741	NM_002207.2	521	Aaa/aa	0	G:0.0007	.	.	.	.	-	K/X	protein_coding	YES	CCDS2669.1	1561	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCCAAAAAG	NONE	byCluster	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A02,Superfamily_domains:SSF69179	.	G:0	ENSP00000264741	.	15/28	.	.	.	.	.	.	.	.	rs146867977	15/28	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	deletion	ITGA9,frameshift_variant,p.Lys522ArgfsTer27,ENST00000264741,;ITGA9,frameshift_variant,p.Lys522ArgfsTer27,ENST00000422441,;	1817	169	281	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913400	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	60	122	1	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	98	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33C|c.98C>G|191,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	124	177	SUCCESS
TCAIM	285343	.	GRCh37	3	44449133	44449133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	88	235	0	ENST00000342649.4:c.1450T>C	p.Cys484Arg	p.C484R	ENST00000342649	NM_173826.3	484	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS2712.1	1450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTTGTATT	NONE	.	.	hmmpanther:PTHR31596,hmmpanther:PTHR31596:SF1,Pfam_domain:PF14688	.	.	ENSP00000341539	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000342649	Transcript	.	.	ENSG00000179152	25241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	deleterious(0)	.	TCAIM_HUMAN	TCAIM	HGNC	.	.	UPI0000140156	SNV	TCAIM,missense_variant,p.Cys484Arg,ENST00000342649,;TCAIM,missense_variant,p.Cys484Arg,ENST00000417237,;TCAIM,non_coding_transcript_exon_variant,,ENST00000469246,;TCAIM,3_prime_UTR_variant,,ENST00000431657,;TCAIM,3_prime_UTR_variant,,ENST00000412611,;	1877	235	249	SUCCESS
SETD2	29072	.	GRCh37	3	47084191	47084191	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	102	0	ENST00000409792.3:c.7099-1G>T		p.X2367_splice	ENST00000409792	NM_014159.6	2367		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2749.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACTACAA	NONE	.	.	.	.	.	ENSP00000386759	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	HIGH	16/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,splice_acceptor_variant,,ENST00000409792,;SETD2,splice_acceptor_variant,,ENST00000479832,;SETD2,splice_acceptor_variant,,ENST00000445387,;SETD2,splice_acceptor_variant,,ENST00000330022,;SETD2,splice_acceptor_variant,,ENST00000431180,;	.	102	97	SUCCESS
BSN	8927	.	GRCh37	3	49691179	49691179	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs748088212	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	91	0	ENST00000296452.4:c.4190A>G	p.Tyr1397Cys	p.Y1397C	ENST00000296452	NM_003458.3	1397	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2800.1	4190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATATATGA	NONE	byFrequency	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	rs748088212	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Tyr1397Cys,ENST00000296452,;BSN,downstream_gene_variant,,ENST00000467456,;	4304	91	99	SUCCESS
EDEM1	9695	.	GRCh37	3	5229385	5229385	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	12	0	ENST00000256497.4:c.-106G>C		p.*36*	ENST00000256497	NM_014674.2	200		0	.	.	.	.	.	C	L/V	protein_coding	YES	.	598	RADIA|MUTECT|MUSE	.	GGGGAGTTCCT	NONE	.	.	.	.	.	ENSP00000471728	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000600805	Transcript	.	.	ENSG00000268509	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.578)	.	.	.	.	AC026202.1	Clone_based_ensembl_gene	Q96EZ6_HUMAN	.	UPI00001BD9D3	SNV	AC026202.1,missense_variant,p.Leu200Val,ENST00000600805,;EDEM1,5_prime_UTR_variant,,ENST00000256497,;EDEM1,upstream_gene_variant,,ENST00000445686,;AC026202.3,upstream_gene_variant,,ENST00000439325,;EDEM1,intron_variant,,ENST00000434243,;EDEM1,upstream_gene_variant,,ENST00000465187,;EDEM1,upstream_gene_variant,,ENST00000443790,;EDEM1,upstream_gene_variant,,ENST00000465369,;	598	12	12	SUCCESS
GNL3	26354	.	GRCh37	3	52727666	52727666	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	68	141	0	ENST00000418458.1:c.1343T>A	p.Leu448Ter	p.L448*	ENST00000418458	NM_014366.4	448	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS2861.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTTGGCCA	NONE	.	.	hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF11	.	.	ENSP00000395772	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000418458	Transcript	.	.	ENSG00000163938	29931	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNL3_HUMAN	GNL3	HGNC	C9JZT7_HUMAN,C9JYH9_HUMAN	.	UPI000003C48A	SNV	GNL3,stop_gained,p.Leu436Ter,ENST00000394799,;GNL3,stop_gained,p.Leu448Ter,ENST00000418458,;GNL3,downstream_gene_variant,,ENST00000479230,;GLT8D1,downstream_gene_variant,,ENST00000491606,;GLT8D1,downstream_gene_variant,,ENST00000497436,;GLT8D1,downstream_gene_variant,,ENST00000479553,;GLT8D1,downstream_gene_variant,,ENST00000394783,;GLT8D1,downstream_gene_variant,,ENST00000407584,;GLT8D1,downstream_gene_variant,,ENST00000478968,;GLT8D1,downstream_gene_variant,,ENST00000497953,;GLT8D1,downstream_gene_variant,,ENST00000489119,;GLT8D1,downstream_gene_variant,,ENST00000487642,;GLT8D1,downstream_gene_variant,,ENST00000266014,;SNORD19B,downstream_gene_variant,,ENST00000516978,;SNORD19B,downstream_gene_variant,,ENST00000459623,;SNORD69,downstream_gene_variant,,ENST00000391150,;SNORD19,downstream_gene_variant,,ENST00000391191,;SNORD19,downstream_gene_variant,,ENST00000410413,;GLT8D1,downstream_gene_variant,,ENST00000463827,;GNL3,downstream_gene_variant,,ENST00000468146,;GNL3,non_coding_transcript_exon_variant,,ENST00000496254,;GNL3,non_coding_transcript_exon_variant,,ENST00000497356,;GLT8D1,downstream_gene_variant,,ENST00000481643,;GLT8D1,downstream_gene_variant,,ENST00000484163,;GLT8D1,downstream_gene_variant,,ENST00000485899,;GLT8D1,downstream_gene_variant,,ENST00000480080,;GNL3,downstream_gene_variant,,ENST00000492349,;GNL3,downstream_gene_variant,,ENST00000484022,;	1516	142	160	SUCCESS
CLNK	116449	.	GRCh37	4	10669532	10669532	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs372952826	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	72	150	1	ENST00000226951.6:c.-39G>T		p.*13*	ENST00000226951	NM_052964.2			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS47024.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCAGCCT	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000226951	.	2/19	.	.	.	.	.	.	.	.	rs372952826	2/19	PASS	ENST00000226951	Transcript	.	.	ENSG00000109684	17438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLNK_HUMAN	CLNK	HGNC	D6RJB9_HUMAN	.	UPI000004A23A	SNV	CLNK,5_prime_UTR_variant,,ENST00000226951,;CLNK,5_prime_UTR_variant,,ENST00000442825,;	202	151	169	SUCCESS
SLC25A31	83447	.	GRCh37	4	128689945	128689945	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	79	0	ENST00000281154.4:c.672C>T	p.Val224=	p.V224=	ENST00000281154	NM_031291.2	224	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3733.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTCTCCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF169,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000281154	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000281154	Transcript	.	.	ENSG00000151475	25319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADT4_HUMAN	SLC25A31	HGNC	.	.	UPI0000037D19	SNV	SLC25A31,synonymous_variant,p.%3D,ENST00000281154,;	840	79	93	SUCCESS
SNX25	83891	.	GRCh37	4	186244738	186244738	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	4	192	0	ENST00000264694.8:c.1041A>G	p.Lys347=	p.K347=	ENST00000264694	NM_031953.2	347	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS34116.1	1041	MUTECT|MUSE	.	AGCAAAGAAAT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR22775:SF6,hmmpanther:PTHR22775,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000426255	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000504273	Transcript	.	.	ENSG00000109762	21883	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX25_HUMAN	SNX25	HGNC	B3KTI8_HUMAN	.	UPI000020B7BB	SNV	SNX25,synonymous_variant,p.%3D,ENST00000504273,;SNX25,synonymous_variant,p.%3D,ENST00000264694,;SNX25,non_coding_transcript_exon_variant,,ENST00000512853,;SNX25,synonymous_variant,p.%3D,ENST00000504959,;	1335	192	99	SUCCESS
ZAR1	326340	.	GRCh37	4	48496259	48496259	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	60	0	ENST00000327939.4:c.1273T>G	p.Ter425GluextTer13	p.*425Eext*13	ENST00000327939	NM_175619.2	425	Tag/Gag	0	.	.	.	.	.	G	*/E	protein_coding	YES	CCDS3483.1	1273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTTAGGTG	NONE	.	.	.	.	.	ENSP00000329803	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000327939	Transcript	.	.	ENSG00000182223	20436	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZAR1_HUMAN	ZAR1	HGNC	.	.	UPI000000D8B4	SNV	ZAR1,stop_lost,p.Ter425GluextTer13,ENST00000327939,;FRYL,downstream_gene_variant,,ENST00000358350,;FRYL,downstream_gene_variant,,ENST00000503238,;FRYL,downstream_gene_variant,,ENST00000507873,;FRYL,downstream_gene_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000537810,;FRYL,downstream_gene_variant,,ENST00000503339,;	1313	60	45	SUCCESS
PPAT	5471	.	GRCh37	4	57261620	57261620	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	102	266	1	ENST00000264220.2:c.1452T>C	p.Asp484=	p.D484=	ENST00000264220	NM_002703.4	484	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3505.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATATCGTG	NONE	.	.	hmmpanther:PTHR11907,hmmpanther:PTHR11907:SF3,PIRSF_domain:PIRSF000485,Superfamily_domains:SSF53271	.	.	ENSP00000264220	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000264220	Transcript	.	.	ENSG00000128059	9238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUR1_HUMAN	PPAT	HGNC	A8K4H7_HUMAN	.	UPI0000000C5A	SNV	PPAT,synonymous_variant,p.%3D,ENST00000264220,;RP11-646I6.6,upstream_gene_variant,,ENST00000602749,;PPAT,non_coding_transcript_exon_variant,,ENST00000425339,;	1590	267	282	SUCCESS
PAICS	10606	.	GRCh37	4	57312971	57312971	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	106	230	0	ENST00000264221.2:c.325C>T	p.Leu109Phe	p.L109F	ENST00000264221	NM_006452.3	109	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47060.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCTCAAA	NONE	.	.	hmmpanther:PTHR11609:SF3,hmmpanther:PTHR11609,Pfam_domain:PF01259,Gene3D:3.30.470.20,Superfamily_domains:SSF56104	.	.	ENSP00000382595	.	4/10	.	.	.	.	.	.	.	.	COSM3604653	4/10	PASS	ENST00000399688	Transcript	.	.	ENSG00000128050	8587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.176)	.	.	1	PUR6_HUMAN	PAICS	HGNC	D6RF62_HUMAN	.	UPI0000E9B4A6	SNV	PAICS,missense_variant,p.Leu109Phe,ENST00000264221,;PAICS,missense_variant,p.Leu109Phe,ENST00000512576,;PAICS,missense_variant,p.Leu17Phe,ENST00000514888,;PAICS,missense_variant,p.Leu116Phe,ENST00000399688,;PAICS,missense_variant,p.Leu109Phe,ENST00000505164,;PAICS,upstream_gene_variant,,ENST00000508554,;PAICS,downstream_gene_variant,,ENST00000504188,;PAICS,downstream_gene_variant,,ENST00000510584,;	521	230	246	SUCCESS
PTPN13	5783	.	GRCh37	4	87643469	87643469	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	150	362	0	ENST00000411767.2:c.1490G>T	p.Arg497Ile	p.R497I	ENST00000411767		497	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS47093.1	1490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTAGACAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	10/48	.	.	.	.	.	.	.	.	.	10/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Arg497Ile,ENST00000411767,;PTPN13,missense_variant,p.Arg497Ile,ENST00000436978,;PTPN13,missense_variant,p.Arg497Ile,ENST00000316707,;PTPN13,missense_variant,p.Arg497Ile,ENST00000511467,;PTPN13,missense_variant,p.Arg497Ile,ENST00000427191,;	1970	362	381	SUCCESS
TERT	7015	.	GRCh37	5	1294122	1294122	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	84	0	ENST00000310581.5:c.879C>A	p.Arg293=	p.R293=	ENST00000310581	NM_198253.2	293	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3861.2	879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGGCGCGT	NONE	.	.	hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066	.	.	ENSP00000309572	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,synonymous_variant,p.%3D,ENST00000296820,;TERT,synonymous_variant,p.%3D,ENST00000310581,;TERT,synonymous_variant,p.%3D,ENST00000508104,;TERT,synonymous_variant,p.%3D,ENST00000334602,;TERT,downstream_gene_variant,,ENST00000522877,;TERT,synonymous_variant,p.%3D,ENST00000460137,;	937	84	87	SUCCESS
PCDHA13	56136	.	GRCh37	5	140264075	140264075	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	65	154	1	ENST00000289272.2:c.2222G>T	p.Cys741Phe	p.C741F	ENST00000289272	NM_018904.2	741	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS4240.1	2222	RADIA|MUTECT|MUSE	.	AGTGTGCTCCA	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.562)	.	deleterious_low_confidence(0)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Cys741Phe,ENST00000289272,;PCDHA13,missense_variant,p.Cys741Phe,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	2222	155	163	SUCCESS
PCDHA13	56136	.	GRCh37	5	140264085	140264085	+	synonymous_variant	Silent	SNP	G	G	T	rs782378726	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	69	156	0	ENST00000289272.2:c.2232G>T	p.Ala744=	p.A744=	ENST00000289272	NM_018904.2	744	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4240.1	2232	RADIA|MUTECT|MUSE	.	AGCGCGGCAGG	NONE	byFrequency	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	rs782378726	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,synonymous_variant,p.%3D,ENST00000289272,;PCDHA13,synonymous_variant,p.%3D,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	2232	156	174	SUCCESS
SPDL1	54908	.	GRCh37	5	169021225	169021225	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138841185	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	90	229	0	ENST00000265295.4:c.608G>T	p.Arg203Leu	p.R203L	ENST00000265295	NM_017785.4	203	cGc/cTc	0	T:0.0005	.	.	.	.	T	R/L	protein_coding	YES	CCDS4370.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCGCCAGG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,HAMAP:MF_03041,hmmpanther:PTHR32123:SF9,hmmpanther:PTHR32123	.	T:0.001	ENSP00000265295	.	5/12	.	.	.	.	.	.	.	.	rs138841185,COSM1200113	5/12	common_in_exac	ENST00000265295	Transcript	.	.	ENSG00000040275	26010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.759)	.	deleterious(0.03)	0,1	SPDLY_HUMAN	SPDL1	HGNC	D6RIF7_HUMAN,D6RIB8_HUMAN,D6REZ1_HUMAN,D6RC83_HUMAN,D6R936_HUMAN	.	UPI000013D5F0	SNV	SPDL1,missense_variant,p.Arg132Leu,ENST00000505977,;SPDL1,missense_variant,p.Arg203Leu,ENST00000265295,;SPDL1,missense_variant,p.Arg203Leu,ENST00000513941,;SPDL1,downstream_gene_variant,,ENST00000515224,;SPDL1,downstream_gene_variant,,ENST00000506574,;SPDL1,downstream_gene_variant,,ENST00000508247,;SPDL1,downstream_gene_variant,,ENST00000513795,;SPDL1,non_coding_transcript_exon_variant,,ENST00000510751,;SPDL1,upstream_gene_variant,,ENST00000523518,;SPDL1,3_prime_UTR_variant,,ENST00000507232,;SPDL1,downstream_gene_variant,,ENST00000512028,;SPDL1,downstream_gene_variant,,ENST00000503871,;SPDL1,downstream_gene_variant,,ENST00000509785,;	887	229	250	SUCCESS
NNT	23530	.	GRCh37	5	43650682	43650682	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	66	0	ENST00000264663.5:c.1710C>T	p.Asn570=	p.N570=	ENST00000264663	NM_012343.3	570	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS3949.1	1710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAACATTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,Pfam_domain:PF12769,TIGRFAM_domain:TIGR00561	.	.	ENSP00000264663	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000264663	Transcript	1	.	ENSG00000112992	7863	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NNTM_HUMAN	NNT	HGNC	E9PCX7_HUMAN,D6RHU2_HUMAN,D6RCR6_HUMAN,D6RAI5_HUMAN	.	UPI000013D54F	SNV	NNT,synonymous_variant,p.%3D,ENST00000512996,;NNT,synonymous_variant,p.%3D,ENST00000344920,;NNT,synonymous_variant,p.%3D,ENST00000264663,;NNT,downstream_gene_variant,,ENST00000503651,;NNT,downstream_gene_variant,,ENST00000506893,;NNT,upstream_gene_variant,,ENST00000513390,;	1931	66	73	SUCCESS
HEXB	3074	.	GRCh37	5	74009421	74009421	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs750645495	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	51	111	0	ENST00000261416.7:c.862G>T	p.Glu288Ter	p.E288*	ENST00000261416	NM_000521.3	288	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4022.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGAATTT	NONE	.	.	hmmpanther:PTHR22600,hmmpanther:PTHR22600:SF11,Pfam_domain:PF00728,Gene3D:3.20.20.80,PIRSF_domain:PIRSF001093,Superfamily_domains:SSF51445,Prints_domain:PR00738	.	.	ENSP00000261416	.	7/14	.	.	.	.	.	.	.	.	rs750645495	7/14	PASS	ENST00000261416	Transcript	1	.	ENSG00000049860	4879	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXB_HUMAN	HEXB	HGNC	Q5URX0_HUMAN,D6REQ8_HUMAN	.	UPI000013D183	SNV	HEXB,stop_gained,p.Glu63Ter,ENST00000511181,;HEXB,stop_gained,p.Glu288Ter,ENST00000261416,;HEXB,upstream_gene_variant,,ENST00000513336,;HEXB,upstream_gene_variant,,ENST00000513539,;HEXB,non_coding_transcript_exon_variant,,ENST00000504459,;HEXB,upstream_gene_variant,,ENST00000511621,;HEXB,upstream_gene_variant,,ENST00000503312,;	979	111	139	SUCCESS
MCM9	254394	.	GRCh37	6	119136492	119136493	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	37	77	0	ENST00000316316.6:c.2926dup	p.Ser976PhefsTer14	p.S976Ffs*14	ENST00000316316	NM_017696.2	976	tct/tTct	0	.	.	.	.	.	A	S/FX	protein_coding	YES	CCDS56447.1	2926-2927	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTAGATGTT	NONE	.	.	.	.	.	ENSP00000314505	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000316316	Transcript	.	.	ENSG00000111877	21484	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCM9_HUMAN	MCM9	HGNC	D6RHY8_HUMAN,D6RE85_HUMAN	.	UPI0001AE7302	insertion	MCM9,frameshift_variant,p.Ser976PhefsTer14,ENST00000316316,;MCM9,downstream_gene_variant,,ENST00000458674,;	3213-3214	77	129	SUCCESS
HEY2	23493	.	GRCh37	6	126070805	126070805	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	10	0	ENST00000368364.3:c.-118C>A		p.*40*	ENST00000368364	NM_012259.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5131.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCCGCCGC	NONE	.	.	.	.	.	ENSP00000357348	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000368364	Transcript	.	.	ENSG00000135547	4881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HEY2_HUMAN	HEY2	HGNC	Q5TF93_HUMAN,B4E1L3_HUMAN	.	UPI0000037AFE	SNV	HEY2,5_prime_UTR_variant,,ENST00000368364,;HEY2,intron_variant,,ENST00000368365,;RP11-624M8.1,upstream_gene_variant,,ENST00000427852,;RP11-624M8.1,upstream_gene_variant,,ENST00000606001,;RP11-624M8.1,upstream_gene_variant,,ENST00000432121,;RP11-624M8.1,upstream_gene_variant,,ENST00000451660,;RP11-624M8.1,upstream_gene_variant,,ENST00000606334,;	80	10	47	SUCCESS
SIRT5	23408	.	GRCh37	6	13604758	13604758	+	intron_variant	Intron	SNP	C	C	T	rs200088058	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	59	0	ENST00000606117.1:c.857+3577C>T		p.*286*	ENST00000606117	NM_012241.4			0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS4526.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCATCAT	NONE	byCluster|by1000G	.	.	G:0.001	.	ENSP00000476228	G:0	.	.	.	.	.	.	.	.	.	rs200088058	.	PASS	ENST00000606117	Transcript	.	G:0.0002	ENSG00000124523	14933	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	SIR5_HUMAN	SIRT5	HGNC	.	.	UPI0000073EB3	SNV	SIRT5,3_prime_UTR_variant,,ENST00000379262,;SIRT5,intron_variant,,ENST00000397350,;SIRT5,intron_variant,,ENST00000359782,;SIRT5,intron_variant,,ENST00000606117,;SIRT5,intron_variant,,ENST00000379250,;	.	59	61	SUCCESS
IGF2R	3482	.	GRCh37	6	160468364	160468364	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	24	0	ENST00000356956.1:c.2225A>G	p.Tyr742Cys	p.Y742C	ENST00000356956	NM_000876.2	742	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5273.1	2225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATATCAGG	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	16/48	.	.	.	.	.	.	.	.	.	16/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,missense_variant,p.Tyr742Cys,ENST00000356956,;	2373	24	37	SUCCESS
GPLD1	2822	.	GRCh37	6	24466935	24466935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	48	132	0	ENST00000230036.1:c.794C>A	p.Thr265Lys	p.T265K	ENST00000230036	NM_001503.3	265	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS4553.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTGTTAGA	NONE	.	.	hmmpanther:PTHR23221:SF7,hmmpanther:PTHR23221	.	.	ENSP00000230036	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000230036	Transcript	.	.	ENSG00000112293	4459	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0)	.	PHLD_HUMAN	GPLD1	HGNC	.	.	UPI000013C91C	SNV	GPLD1,missense_variant,p.Thr265Lys,ENST00000230036,;GPLD1,non_coding_transcript_exon_variant,,ENST00000474784,;	905	132	130	SUCCESS
TRIM39	56658	.	GRCh37	6	30303626	30303626	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	60	98	0	ENST00000376656.4:c.654G>A	p.Glu218=	p.E218=	ENST00000376656	NM_021253.3	218	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS34377.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGGAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF41,hmmpanther:PTHR24103	.	.	ENSP00000365844	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000376656	Transcript	.	.	ENSG00000204599	10065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI39_HUMAN	TRIM39	HGNC	A2AAZ5_HUMAN,A2AAZ4_HUMAN,A2AAZ3_HUMAN,A2AAZ2_HUMAN	.	UPI000013D097	SNV	TRIM39,synonymous_variant,p.%3D,ENST00000420746,;TRIM39,synonymous_variant,p.%3D,ENST00000396547,;TRIM39,synonymous_variant,p.%3D,ENST00000428728,;TRIM39,synonymous_variant,p.%3D,ENST00000376656,;TRIM39-RPP21,synonymous_variant,p.%3D,ENST00000513556,;TRIM39,synonymous_variant,p.%3D,ENST00000376659,;TRIM39,synonymous_variant,p.%3D,ENST00000540416,;TRIM39,synonymous_variant,p.%3D,ENST00000396551,;TRIM39,synonymous_variant,p.%3D,ENST00000396548,;	966	98	136	SUCCESS
AGER	177	.	GRCh37	6	32151800	32151800	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	44	110	0	ENST00000375076.4:c.53-36C>A		p.*18*	ENST00000375076	NM_001206929.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4745.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGAATGA	NONE	.	3230	.	.	.	ENSP00000364235	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375094	Transcript	.	.	ENSG00000204308	10068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF5_HUMAN	RNF5	HGNC	.	.	UPI000006D329	SNV	RNF5,3_prime_UTR_variant,,ENST00000427134,;AGER,5_prime_UTR_variant,,ENST00000375069,;AGER,intron_variant,,ENST00000375056,;AGER,intron_variant,,ENST00000450110,;AGER,intron_variant,,ENST00000375055,;AGER,intron_variant,,ENST00000375070,;AGER,intron_variant,,ENST00000438221,;AGER,intron_variant,,ENST00000375065,;AGER,intron_variant,,ENST00000375076,;AGER,intron_variant,,ENST00000375067,;AGER,intron_variant,,ENST00000538695,;PBX2,downstream_gene_variant,,ENST00000375050,;RNF5,downstream_gene_variant,,ENST00000375094,;XXbac-BPG300A18.13,downstream_gene_variant,,ENST00000559458,;RNF5,downstream_gene_variant,,ENST00000487940,;AGER,non_coding_transcript_exon_variant,,ENST00000484849,;PBX2,downstream_gene_variant,,ENST00000496171,;PBX2,downstream_gene_variant,,ENST00000480254,;AGER,upstream_gene_variant,,ENST00000473619,;AGER,upstream_gene_variant,,ENST00000488669,;PBX2,downstream_gene_variant,,ENST00000495300,;PBX2,downstream_gene_variant,,ENST00000478678,;AGER,upstream_gene_variant,,ENST00000469940,;	.	110	110	SUCCESS
BRD2	6046	.	GRCh37	6	32940593	32940593	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	20	0	ENST00000374825.4:c.-83T>C		p.*28*	ENST00000374825	NM_005104.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56420.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGTTATGC	NONE	.	.	.	.	.	ENSP00000378704	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000395289	Transcript	.	.	ENSG00000204256	1103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD2_HUMAN	BRD2	HGNC	U3KQA6_HUMAN	.	UPI0000227E6A	SNV	BRD2,5_prime_UTR_variant,,ENST00000395289,;BRD2,5_prime_UTR_variant,,ENST00000374825,;BRD2,5_prime_UTR_variant,,ENST00000607833,;BRD2,5_prime_UTR_variant,,ENST00000374831,;BRD2,5_prime_UTR_variant,,ENST00000443797,;BRD2,5_prime_UTR_variant,,ENST00000395287,;BRD2,intron_variant,,ENST00000456339,;BRD2,upstream_gene_variant,,ENST00000449025,;BRD2,upstream_gene_variant,,ENST00000449085,;HLA-DMA,upstream_gene_variant,,ENST00000422832,;BRD2,downstream_gene_variant,,ENST00000496118,;BRD2,upstream_gene_variant,,ENST00000606059,;XXbac-BPG181M17.6,non_coding_transcript_exon_variant,,ENST00000580587,;BRD2-IT1,downstream_gene_variant,,ENST00000415875,;BRD2,downstream_gene_variant,,ENST00000580234,;HLA-DMA,upstream_gene_variant,,ENST00000464392,;BRD2,downstream_gene_variant,,ENST00000584808,;BRD2,downstream_gene_variant,,ENST00000581002,;BRD2,5_prime_UTR_variant,,ENST00000482914,;BRD2,5_prime_UTR_variant,,ENST00000495733,;BRD2,upstream_gene_variant,,ENST00000481259,;BRD2,upstream_gene_variant,,ENST00000464592,;BRD2,upstream_gene_variant,,ENST00000463639,;	1519	20	29	SUCCESS
TRAM2	9697	.	GRCh37	6	52369497	52369497	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	35	0	ENST00000182527.3:c.931A>T	p.Ile311Phe	p.I311F	ENST00000182527	NM_012288.3	311	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS34477.1	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATGAAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12371:SF4,hmmpanther:PTHR12371,Pfam_domain:PF03798,PIRSF_domain:PIRSF005449,SMART_domains:SM00724	.	.	ENSP00000182527	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000182527	Transcript	.	.	ENSG00000065308	16855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.11)	.	TRAM2_HUMAN	TRAM2	HGNC	G1UI27_HUMAN	.	UPI00000012BF	SNV	TRAM2,missense_variant,p.Ile311Phe,ENST00000182527,;EFHC1,intron_variant,,ENST00000433625,;	931	35	42	SUCCESS
EYS	346007	.	GRCh37	6	65612046	65612046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	321	13	284	0	ENST00000370616.2:c.2806C>T	p.Pro936Ser	p.P936S	ENST00000370616		936	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47445.1	2806	MUTECT|MUSE	.	GCAAGGTTCAG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS01187,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Pro936Ser,ENST00000370616,;EYS,missense_variant,p.Pro936Ser,ENST00000370621,;EYS,missense_variant,p.Pro936Ser,ENST00000503581,;	3344	284	334	SUCCESS
COL12A1	1303	.	GRCh37	6	75860905	75860905	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	71	0	ENST00000322507.8:c.4099A>G	p.Ile1367Val	p.I1367V	ENST00000322507	NM_004370.5	1367	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43482.1	4099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATCCTGG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000325146	.	21/66	.	.	.	.	.	.	.	.	.	21/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Ile1367Val,ENST00000416123,;COL12A1,missense_variant,p.Ile1367Val,ENST00000322507,;COL12A1,missense_variant,p.Ile109Val,ENST00000419671,;COL12A1,missense_variant,p.Ile1367Val,ENST00000483888,;COL12A1,missense_variant,p.Ile203Val,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000474564,;	4409	71	86	SUCCESS
SENP6	26054	.	GRCh37	6	76419283	76419283	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	37	109	0	ENST00000447266.2:c.2757del	p.Pro920LeufsTer39	p.P920Lfs*39	ENST00000447266	NM_015571.2	919	tcA/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS47454.1	2757	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAATCACCTGA	NONE	.	.	PROSITE_profiles:PS50600,hmmpanther:PTHR12438:SF14,hmmpanther:PTHR12438	.	.	ENSP00000402527	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000447266	Transcript	.	.	ENSG00000112701	20944	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SENP6_HUMAN	SENP6	HGNC	H0Y4F4_HUMAN	.	UPI0000141B65	deletion	SENP6,frameshift_variant,p.Pro913LeufsTer39,ENST00000370010,;SENP6,frameshift_variant,p.Pro920LeufsTer39,ENST00000370014,;SENP6,frameshift_variant,p.Pro920LeufsTer39,ENST00000447266,;SENP6,3_prime_UTR_variant,,ENST00000541192,;SENP6,3_prime_UTR_variant,,ENST00000503501,;	3235	109	140	SUCCESS
FAM185A	222234	.	GRCh37	7	102448814	102448814	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	34	76	0	ENST00000413034.2:c.1144C>A	p.Gln382Lys	p.Q382K	ENST00000413034	NM_001145268.1	382	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47676.1	1144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCAAAGT	NONE	.	.	.	.	.	ENSP00000395340	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000413034	Transcript	.	.	ENSG00000222011	22412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	F185A_HUMAN	FAM185A	HGNC	F8WFC0_HUMAN,C9JFL0_HUMAN	.	UPI0001AE70BB	SNV	FAM185A,missense_variant,p.Gln265Lys,ENST00000409231,;FAM185A,missense_variant,p.Gln382Lys,ENST00000413034,;FBXL13,downstream_gene_variant,,ENST00000379306,;FBXL13,downstream_gene_variant,,ENST00000393772,;FBXL13,downstream_gene_variant,,ENST00000456695,;FBXL13,downstream_gene_variant,,ENST00000313221,;FBXL13,downstream_gene_variant,,ENST00000455112,;FBXL13,downstream_gene_variant,,ENST00000379305,;FBXL13,downstream_gene_variant,,ENST00000436908,;FBXL13,downstream_gene_variant,,ENST00000379308,;FBXL13,downstream_gene_variant,,ENST00000480422,;FAM185A,3_prime_UTR_variant,,ENST00000442873,;FAM185A,3_prime_UTR_variant,,ENST00000420217,;FBXL13,downstream_gene_variant,,ENST00000448002,;	1144	76	132	SUCCESS
ING3	54556	.	GRCh37	7	120610762	120610762	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	101	138	1	ENST00000315870.5:c.929G>C	p.Ser310Thr	p.S310T	ENST00000315870	NM_019071.2	310	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS5778.1	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGCCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10333	.	.	ENSP00000320566	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000315870	Transcript	.	.	ENSG00000071243	14587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.35)	.	ING3_HUMAN	ING3	HGNC	E7ET07_HUMAN	.	UPI00000373B3	SNV	ING3,missense_variant,p.Ser295Thr,ENST00000431467,;ING3,missense_variant,p.Ser310Thr,ENST00000315870,;ING3,3_prime_UTR_variant,,ENST00000427726,;ING3,non_coding_transcript_exon_variant,,ENST00000497502,;	1077	139	197	SUCCESS
TRPV5	56302	.	GRCh37	7	142605860	142605860	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	62	63	0	ENST00000265310.1:c.2010G>A	p.Gly670=	p.G670=	ENST00000265310	NM_019841.4	670	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5875.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCCCAGA	NONE	.	.	hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Prints_domain:PR01767	.	.	ENSP00000265310	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,synonymous_variant,p.%3D,ENST00000439304,;TRPV5,synonymous_variant,p.%3D,ENST00000265310,;	2359	63	98	SUCCESS
EZH2	2146	.	GRCh37	7	148506446	148506446	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	41	77	0	ENST00000320356.2:c.2066T>G	p.Ile689Ser	p.I689S	ENST00000320356	NM_004456.4	689	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS5891.1	2066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGAATTTTG	BUFFER|p.R690H|c.2069G>A|11,BUFFER|p.R646H|c.1937G>A|3	.	.	Superfamily_domains:SSF82199,SMART_domains:SM00317,Pfam_domain:PF00856,Gene3D:2.170.270.10,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,PROSITE_profiles:PS50280	.	.	ENSP00000320147	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000320356	Transcript	.	.	ENSG00000106462	3527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	EZH2_HUMAN	EZH2	HGNC	Q75MQ0_HUMAN,Q6R125_HUMAN	.	UPI000006D77C	SNV	EZH2,missense_variant,p.Ile633Ser,ENST00000541220,;EZH2,missense_variant,p.Ile645Ser,ENST00000350995,;EZH2,missense_variant,p.Ile633Ser,ENST00000476773,;EZH2,missense_variant,p.Ile675Ser,ENST00000483967,;EZH2,missense_variant,p.Ile633Ser,ENST00000478654,;EZH2,missense_variant,p.Ile689Ser,ENST00000320356,;EZH2,missense_variant,p.Ile684Ser,ENST00000460911,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000469631,;	2188	77	127	SUCCESS
ABCB8	11194	.	GRCh37	7	150731818	150731818	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs747183999	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	28	53	0	ENST00000297504.6:c.718A>G	p.Ile240Val	p.I240V	ENST00000297504	NM_001282291.1	240	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5913.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACATCACC	NONE	.	.	Superfamily_domains:SSF90123,Gene3D:2hydA01,Pfam_domain:PF00664,hmmpanther:PTHR24221:SF167,hmmpanther:PTHR24221,PROSITE_profiles:PS50929	.	.	ENSP00000351717	.	5/16	.	.	.	.	.	.	.	.	rs747183999	5/16	PASS	ENST00000358849	Transcript	.	.	ENSG00000197150	49	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.52)	.	ABCB8_HUMAN	ABCB8	HGNC	B3KSN3_HUMAN,B3KND2_HUMAN	.	UPI000013E41B	SNV	ABCB8,missense_variant,p.Ile260Val,ENST00000356058,;ABCB8,missense_variant,p.Ile240Val,ENST00000297504,;ABCB8,missense_variant,p.Ile223Val,ENST00000498578,;ABCB8,missense_variant,p.Ile223Val,ENST00000358849,;ABCB8,missense_variant,p.Ile223Val,ENST00000477092,;ABCB8,missense_variant,p.Ile135Val,ENST00000542328,;ABCB8,missense_variant,p.Ile223Val,ENST00000477719,;ABCB8,upstream_gene_variant,,ENST00000491920,;ABCB8,downstream_gene_variant,,ENST00000461373,;RP11-148K1.10,upstream_gene_variant,,ENST00000479085,;ABCB8,downstream_gene_variant,,ENST00000469410,;ABCB8,downstream_gene_variant,,ENST00000472698,;ABCB8,downstream_gene_variant,,ENST00000493338,;ABCB8,downstream_gene_variant,,ENST00000488370,;ABCB8,downstream_gene_variant,,ENST00000471796,;ABCB8,downstream_gene_variant,,ENST00000488826,;ABCB8,downstream_gene_variant,,ENST00000466956,;ABCB8,3_prime_UTR_variant,,ENST00000470645,;ABCB8,3_prime_UTR_variant,,ENST00000466514,;ABCB8,3_prime_UTR_variant,,ENST00000482309,;ABCB8,downstream_gene_variant,,ENST00000488551,;ABCB8,upstream_gene_variant,,ENST00000482899,;ABCB8,downstream_gene_variant,,ENST00000489192,;ABCB8,downstream_gene_variant,,ENST00000462605,;	760	53	106	SUCCESS
TMUB1	83590	.	GRCh37	7	150778955	150778955	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	22	0	ENST00000297533.4:c.422G>T	p.Arg141Leu	p.R141L	ENST00000297533	NM_001136044.1	141	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5920.1	422	MUTECT|MUSE	.	TGAGTCGCACC	NONE	.	.	Superfamily_domains:SSF54236,Pfam_domain:PF00240,Gene3D:3.10.20.90,hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF3,PROSITE_profiles:PS50053	.	.	ENSP00000376565	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000392818	Transcript	.	.	ENSG00000164897	21709	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	TMUB1_HUMAN	TMUB1	HGNC	C9JE12_HUMAN,C9JCW7_HUMAN	.	UPI0000071C66	SNV	TMUB1,missense_variant,p.Arg141Leu,ENST00000488752,;TMUB1,missense_variant,p.Arg141Leu,ENST00000297533,;TMUB1,missense_variant,p.Arg141Leu,ENST00000482202,;TMUB1,missense_variant,p.Arg141Leu,ENST00000392818,;TMUB1,missense_variant,p.Arg141Leu,ENST00000462940,;TMUB1,missense_variant,p.Arg141Leu,ENST00000476627,;TMUB1,missense_variant,p.Arg141Leu,ENST00000492838,;AGAP3,upstream_gene_variant,,ENST00000473312,;FASTK,upstream_gene_variant,,ENST00000297532,;AGAP3,upstream_gene_variant,,ENST00000479901,;FASTK,upstream_gene_variant,,ENST00000353841,;AGAP3,upstream_gene_variant,,ENST00000463381,;AGAP3,upstream_gene_variant,,ENST00000397238,;FASTK,upstream_gene_variant,,ENST00000540185,;FASTK,upstream_gene_variant,,ENST00000482571,;AGAP3,upstream_gene_variant,,ENST00000490097,;FASTK,upstream_gene_variant,,ENST00000478477,;FASTK,upstream_gene_variant,,ENST00000489884,;FASTK,upstream_gene_variant,,ENST00000496663,;FASTK,upstream_gene_variant,,ENST00000461979,;FASTK,upstream_gene_variant,,ENST00000460980,;FASTK,upstream_gene_variant,,ENST00000482806,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000469237,;FASTK,upstream_gene_variant,,ENST00000459800,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000465272,;FASTK,upstream_gene_variant,,ENST00000467237,;	780	22	48	SUCCESS
AQP1	358	.	GRCh37	7	30963207	30963207	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	67	142	1	ENST00000311813.4:c.773A>G	p.Asp258Gly	p.D258G	ENST00000311813	NM_198098.2	258	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5431.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGACGACA	NONE	.	.	hmmpanther:PTHR19139:SF33,hmmpanther:PTHR19139	.	.	ENSP00000311165	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000311813	Transcript	.	.	ENSG00000240583	633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	tolerated(0.1)	.	AQP1_HUMAN	AQP1	HGNC	Q6JSD7_HUMAN,B4DNW4_HUMAN	.	UPI000005339A	SNV	AQP1,missense_variant,p.Asp143Gly,ENST00000409899,;AQP1,missense_variant,p.Asp258Gly,ENST00000311813,;AQP1,missense_variant,p.Asp175Gly,ENST00000441328,;AQP1,missense_variant,p.Asp435Gly,ENST00000509504,;AQP1,missense_variant,p.Asp207Gly,ENST00000409611,;AQP1,missense_variant,p.Asp318Gly,ENST00000434909,;AQP1,non_coding_transcript_exon_variant,,ENST00000482461,;	828	143	247	SUCCESS
LIMK1	3984	.	GRCh37	7	73520215	73520215	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs406970	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	54	0	ENST00000336180.2:c.619G>T	p.Gly207Cys	p.G207C	ENST00000336180	NM_002314.3	207	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS5563.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCGGGCTGC	NONE	byHapMap	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379,PROSITE_profiles:PS50106	.	.	ENSP00000336740	.	6/16	.	.	.	.	.	.	.	.	rs406970	6/16	PASS	ENST00000336180	Transcript	.	.	ENSG00000106683	6613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.09)	.	LIMK1_HUMAN	LIMK1	HGNC	Q75MU4_HUMAN	.	UPI000013D678	SNV	LIMK1,missense_variant,p.Gly237Cys,ENST00000418310,;LIMK1,missense_variant,p.Gly173Cys,ENST00000538333,;LIMK1,missense_variant,p.Gly207Cys,ENST00000336180,;LIMK1,non_coding_transcript_exon_variant,,ENST00000491052,;LIMK1,missense_variant,p.Gly207Cys,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000483414,;	670	54	85	SUCCESS
STYXL1	51657	.	GRCh37	7	75659739	75659739	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	52	83	0	ENST00000248600.1:c.103G>A	p.Asp35Asn	p.D35N	ENST00000248600	NM_016086.2	35	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5580.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCCAATA	NONE	.	.	Superfamily_domains:SSF52821,SMART_domains:SM00450,Gene3D:3.40.250.10,Pfam_domain:PF00581,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF292	.	.	ENSP00000248600	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000248600	Transcript	.	.	ENSG00000127952	18165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	STYL1_HUMAN	STYXL1	HGNC	.	.	UPI000012F694	SNV	STYXL1,missense_variant,p.Asp35Asn,ENST00000359697,;STYXL1,missense_variant,p.Asp35Asn,ENST00000431581,;STYXL1,missense_variant,p.Asp35Asn,ENST00000451157,;STYXL1,missense_variant,p.Asp35Asn,ENST00000340062,;STYXL1,missense_variant,p.Asp35Asn,ENST00000248600,;STYXL1,missense_variant,p.Asp35Asn,ENST00000360591,;STYXL1,upstream_gene_variant,,ENST00000454618,;STYXL1,splice_region_variant,,ENST00000460184,;STYXL1,splice_region_variant,,ENST00000474328,;STYXL1,upstream_gene_variant,,ENST00000430497,;STYXL1,upstream_gene_variant,,ENST00000438695,;	446	83	152	SUCCESS
SEMA3A	10371	.	GRCh37	7	83610698	83610698	+	synonymous_variant	Silent	SNP	G	G	T	rs746525414	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	66	139	0	ENST00000265362.4:c.1591C>A	p.Arg531=	p.R531=	ENST00000265362	NM_006080.2	531	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5599.1	1591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCGGGCGA	NONE	.	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000265362	.	14/17	.	.	.	.	.	.	.	.	rs746525414	14/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1906	139	240	SUCCESS
CSMD3	114788	.	GRCh37	8	114186141	114186141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	57	0	ENST00000297405.5:c.519G>T	p.Leu173Phe	p.L173F	ENST00000297405	NM_198123.1	173	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6315.1	519	MUTECT|MUSE|VARSCANS	.	CTCTGCAATTC	NONE	.	.	PROSITE_profiles:PS01180,SMART_domains:SM00042	.	.	ENSP00000297405	.	4/71	.	.	.	.	.	.	.	.	.	4/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.017)	.	tolerated(0.14)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Leu173Phe,ENST00000352409,;CSMD3,missense_variant,p.Leu173Phe,ENST00000455883,;CSMD3,missense_variant,p.Leu173Phe,ENST00000297405,;CSMD3,missense_variant,p.Leu133Phe,ENST00000343508,;CSMD3,upstream_gene_variant,,ENST00000519485,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;CSMD3,upstream_gene_variant,,ENST00000462254,;	764	57	104	SUCCESS
DEPTOR	64798	.	GRCh37	8	120940716	120940716	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	42	96	0	ENST00000286234.5:c.199A>G	p.Lys67Glu	p.K67E	ENST00000286234	NM_022783.2	67	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6331.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCAAAAGAA	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR22829:SF18,hmmpanther:PTHR22829,Pfam_domain:PF00610,Gene3D:1.10.10.10,SMART_domains:SM00049,Superfamily_domains:SSF46785	.	.	ENSP00000286234	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000286234	Transcript	.	.	ENSG00000155792	22953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	deleterious(0.05)	.	DPTOR_HUMAN	DEPTOR	HGNC	.	.	UPI000013DE38	SNV	DEPTOR,missense_variant,p.Lys67Glu,ENST00000286234,;DEPTOR,intron_variant,,ENST00000523492,;	329	96	161	SUCCESS
SLA	6503	.	GRCh37	8	134052339	134052339	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	30	55	0	ENST00000338087.5:c.521C>T	p.Pro174Leu	p.P174L	ENST00000338087	NM_001045556.2	174	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47923.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGGCGTG	NONE	.	.	Superfamily_domains:SSF55550,Gene3D:3.30.505.10,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF4,PROSITE_profiles:PS50001	.	.	ENSP00000394049	.	6/7	.	.	.	.	.	.	.	.	COSM1551751,COSM1551750	6/7	PASS	ENST00000427060	Transcript	.	.	ENSG00000155926	10902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	.	SLA	HGNC	Q6FI01_HUMAN,E5RK95_HUMAN,E5RK29_HUMAN,E5RJ69_HUMAN,E5RHT2_HUMAN,E5RGG0_HUMAN,B7Z4L6_HUMAN	.	UPI0000210625	SNV	SLA,missense_variant,p.Pro174Leu,ENST00000338087,;SLA,missense_variant,p.Pro66Leu,ENST00000524345,;SLA,missense_variant,p.Pro147Leu,ENST00000517648,;SLA,missense_variant,p.Pro214Leu,ENST00000427060,;SLA,missense_variant,p.Pro191Leu,ENST00000395352,;TG,intron_variant,,ENST00000220616,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000377869,;TG,intron_variant,,ENST00000519543,;TG,intron_variant,,ENST00000519178,;SLA,downstream_gene_variant,,ENST00000522119,;SLA,non_coding_transcript_exon_variant,,ENST00000517549,;TG,intron_variant,,ENST00000523756,;	719	55	108	SUCCESS
TOX	9760	.	GRCh37	8	59750854	59750854	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	41	0	ENST00000361421.1:c.710A>G	p.Lys237Arg	p.K237R	ENST00000361421	NM_014729.2	237	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS34897.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCTTCTCT	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155	.	.	ENSP00000354842	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000361421	Transcript	.	.	ENSG00000198846	18988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	TOX_HUMAN	TOX	HGNC	B4DYA1_HUMAN	.	UPI0000070A73	SNV	TOX,missense_variant,p.Lys237Arg,ENST00000361421,;	931	41	69	SUCCESS
C8orf34	116328	.	GRCh37	8	69728153	69728153	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	73	76	0	ENST00000518698.1:c.1582T>A	p.Ser528Thr	p.S528T	ENST00000518698	NM_052958.2	528	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS6203.2	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCTCTTCT	NONE	.	.	hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF2	.	.	ENSP00000427820	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000518698	Transcript	.	.	ENSG00000165084	30905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious_low_confidence(0)	.	CH034_HUMAN	C8orf34	HGNC	.	.	UPI000021D12D	SNV	C8orf34,missense_variant,p.Ser442Thr,ENST00000539993,;C8orf34,missense_variant,p.Ser417Thr,ENST00000337103,;C8orf34,missense_variant,p.Ser528Thr,ENST00000518698,;C8orf34,3_prime_UTR_variant,,ENST00000521406,;	1873	76	122	SUCCESS
CRISPLD1	83690	.	GRCh37	8	75926334	75926334	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	60	63	0	ENST00000262207.4:c.623C>T	p.Pro208Leu	p.P208L	ENST00000262207	NM_031461.5	208	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS6219.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCAAAGT	NONE	.	.	hmmpanther:PTHR10334:SF73,hmmpanther:PTHR10334,PROSITE_patterns:PS01010,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797,Prints_domain:PR00837	.	.	ENSP00000262207	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000262207	Transcript	.	.	ENSG00000121005	18206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0.03)	.	CRLD1_HUMAN	CRISPLD1	HGNC	E5RJS4_HUMAN,B7Z8V9_HUMAN	.	UPI00000422F5	SNV	CRISPLD1,missense_variant,p.Pro208Leu,ENST00000262207,;CRISPLD1,missense_variant,p.Pro20Leu,ENST00000523524,;CRISPLD1,intron_variant,,ENST00000517786,;CRISPLD1,downstream_gene_variant,,ENST00000520277,;CRISPLD1,downstream_gene_variant,,ENST00000519798,;	1091	63	104	SUCCESS
SLC26A7	115111	.	GRCh37	8	92346676	92346676	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	45	53	0	ENST00000276609.3:c.795+1G>T		p.X265_splice	ENST00000276609	NM_052832.2	265		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6255.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGTAAGT	NONE	.	.	.	.	.	ENSP00000309504	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	HIGH	6/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,splice_donor_variant,,ENST00000520818,;SLC26A7,splice_donor_variant,,ENST00000276609,;SLC26A7,splice_donor_variant,,ENST00000309536,;SLC26A7,splice_donor_variant,,ENST00000523719,;SLC26A7,splice_donor_variant,,ENST00000522181,;	.	53	73	SUCCESS
INTS8	55656	.	GRCh37	8	95861725	95861725	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	557	177	456	1	ENST00000523731.1:c.1296A>T	p.Ser432=	p.S432=	ENST00000523731	NM_017864.3	432	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34925.1	1296	RADIA|SOMATICSNIPER|VARSCANS	.	GCTTCAGAGTC	NONE	.	.	hmmpanther:PTHR13350	.	.	ENSP00000430338	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,synonymous_variant,p.%3D,ENST00000520526,;INTS8,synonymous_variant,p.%3D,ENST00000523731,;INTS8,synonymous_variant,p.%3D,ENST00000447247,;INTS8,upstream_gene_variant,,ENST00000520845,;INTS8,synonymous_variant,p.%3D,ENST00000343161,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,non_coding_transcript_exon_variant,,ENST00000523321,;	1429	457	735	SUCCESS
ABCA1	19	.	GRCh37	9	107562206	107562206	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	64	0	ENST00000374736.3:c.4837A>G	p.Ile1613Val	p.I1613V	ENST00000374736	NM_005502.3	1613	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6762.1	4837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAATGGCAT	NONE	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698	.	.	ENSP00000363868	.	36/50	.	.	.	.	.	.	.	.	.	36/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.308)	.	tolerated(0.12)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Ile1613Val,ENST00000374736,;	5232	64	100	SUCCESS
IKBKAP	0	.	GRCh37	9	111653509	111653510	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GC	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	47	110	0	ENST00000374647.5:c.3132_3133dup	p.Leu1045ArgfsTer41	p.L1045Rfs*41	ENST00000374647	NM_003640.3	1045	ctg/cGCtg	0	.	.	.	.	.	GC	L/RX	protein_coding	YES	CCDS6773.1	3133-3134	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACCAGCTGG	NONE	.	.	hmmpanther:PTHR12747,PIRSF_domain:PIRSF017233	.	.	ENSP00000363779	.	28/37	.	.	.	.	.	.	.	.	.	28/37	PASS	ENST00000374647	Transcript	.	.	ENSG00000070061	5959	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELP1_HUMAN	IKBKAP	HGNC	Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN	.	UPI000013D2D0	insertion	IKBKAP,frameshift_variant,p.Leu696ArgfsTer41,ENST00000537196,;IKBKAP,frameshift_variant,p.Leu1045ArgfsTer41,ENST00000374647,;IKBKAP,upstream_gene_variant,,ENST00000467959,;IKBKAP,frameshift_variant,p.Leu92ArgfsTer41,ENST00000495759,;	3441-3442	110	139	SUCCESS
C5	727	.	GRCh37	9	123776190	123776190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	81	1	ENST00000223642.1:c.2218G>T	p.Ala740Ser	p.A740S	ENST00000223642	NM_001735.2	740	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6826.1	2218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGCACGGA	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83,Gene3D:1cfaA00,Superfamily_domains:SSF47686	.	.	ENSP00000223642	.	17/41	.	.	.	.	.	.	.	.	.	17/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.74)	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,missense_variant,p.Ala740Ser,ENST00000223642,;	2248	82	65	SUCCESS
CEL	1056	.	GRCh37	9	135947089	135947089	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1429103234	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	289	165	412	0	ENST00000372080.4:c.2209G>C	p.Ala737Pro	p.A737P	ENST00000372080	NM_001807.4	737	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS43896.1	2209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGCCCCT	NONE	.	.	.	.	.	ENSP00000361151	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372080	Transcript	.	.	ENSG00000170835	1848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated_low_confidence(0.13)	.	.	CEL	HGNC	Q9UMB1_HUMAN	.	UPI000013E8C6	SNV	CEL,missense_variant,p.Ala668Pro,ENST00000351304,;CEL,missense_variant,p.Ala737Pro,ENST00000372080,;	2225	412	454	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136310099	136310099	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	36	0	ENST00000371929.3:c.2536C>T	p.Pro846Ser	p.P846S	ENST00000371929	NM_139025.4	846	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS6970.1	2536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCCTGGC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161	.	.	ENSP00000360997	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	tolerated(0.43)	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,missense_variant,p.Pro846Ser,ENST00000355699,;ADAMTS13,missense_variant,p.Pro815Ser,ENST00000356589,;ADAMTS13,missense_variant,p.Pro846Ser,ENST00000371929,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,3_prime_UTR_variant,,ENST00000536611,;ADAMTS13,non_coding_transcript_exon_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000495234,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;	2980	36	45	SUCCESS
DOCK8	81704	.	GRCh37	9	368060	368060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	66	123	1	ENST00000432829.2:c.1518C>A	p.Asn506Lys	p.N506K	ENST00000432829	NM_203447.3	506	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS6440.2	1722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAACAAACT	NONE	.	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Pfam_domain:PF14429	.	.	ENSP00000408464	.	15/48	.	.	.	.	.	.	.	.	.	15/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.692)	.	deleterious(0)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Asn506Lys,ENST00000432829,;DOCK8,missense_variant,p.Asn574Lys,ENST00000453981,;DOCK8,missense_variant,p.Asn506Lys,ENST00000469391,;DOCK8,5_prime_UTR_variant,,ENST00000382331,;DOCK8,5_prime_UTR_variant,,ENST00000382329,;DOCK8,3_prime_UTR_variant,,ENST00000483757,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	1834	124	171	SUCCESS
FRMPD4	9758	.	GRCh37	X	12735950	12735950	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	118	116	0	ENST00000380682.1:c.3005T>C	p.Met1002Thr	p.M1002T	ENST00000380682	NM_014728.3	1002	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS35201.1	3005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTATGGAGA	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3	.	.	ENSP00000370057	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	deleterious_low_confidence(0)	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,missense_variant,p.Met1002Thr,ENST00000380682,;	3511	116	145	SUCCESS
IL9R	3581	.	GRCh37	X	155239647	155239647	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	52	0	ENST00000244174.5:c.1139G>C	p.Gly380Ala	p.G380A	ENST00000244174	NM_002186.2	380	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS14771.4	1139	RADIA|MUTECT|VARSCANS	.	CCCTGGGACCA	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.515)	.	tolerated(0.1)	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,missense_variant,p.Gly380Ala,ENST00000244174,;IL9R,missense_variant,p.Gly359Ala,ENST00000424344,;IL9R,3_prime_UTR_variant,,ENST00000369423,;IL9R,3_prime_UTR_variant,,ENST00000540897,;WASIR1,downstream_gene_variant,,ENST00000399966,;IL9R,downstream_gene_variant,,ENST00000494962,;AJ271736.10,intron_variant,,ENST00000483543,;	1318	52	56	SUCCESS
PNLIPRP3	119548	.	GRCh37	10	118225668	118225668	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	40	75	0	ENST00000369230.3:c.915A>G	p.Thr305=	p.T305=	ENST00000369230	NM_001011709.2	305	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31292.1	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACATCTTT	NONE	.	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,Gene3D:3.40.50.1820,hmmpanther:PTHR11610:SF96,hmmpanther:PTHR11610	.	.	ENSP00000358232	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000369230	Transcript	.	.	ENSG00000203837	23492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPR3_HUMAN	PNLIPRP3	HGNC	.	.	UPI000013DB40	SNV	PNLIPRP3,synonymous_variant,p.%3D,ENST00000369230,;	1061	75	85	SUCCESS
GDF2	2658	.	GRCh37	10	48413997	48413997	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201711410	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	69	0	ENST00000249598.1:c.871G>T	p.Gly291Cys	p.G291C	ENST00000249598	NM_016204.1	291	Ggc/Tgc	0	.	T:0	.	T:0.0029	.	A	G/C	protein_coding	YES	CCDS7219.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCGTCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127	T:0	.	ENSP00000249598	T:0	2/2	.	.	.	.	.	.	.	.	rs201711410	2/2	PASS	ENST00000249598	Transcript	.	T:0.0004	ENSG00000128802	4217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	T:0	tolerated(0.06)	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,missense_variant,p.Gly291Cys,ENST00000249598,;	1031	69	81	SUCCESS
CC2D2B	387707	.	GRCh37	10	97787105	97787105	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	76	126	0	ENST00000344386.3:c.781-4472G>A		p.*261*	ENST00000344386	NM_001001732.3	326		0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS53560.1	976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGAAGGA	NONE	.	.	hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF2	.	.	ENSP00000386988	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000410012	Transcript	.	.	ENSG00000188649	31666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.17)	.	C2D2B_HUMAN	CC2D2B	HGNC	.	.	UPI0001A4205F	SNV	CC2D2B,missense_variant,p.Glu326Lys,ENST00000410012,;CC2D2B,3_prime_UTR_variant,,ENST00000371198,;CC2D2B,intron_variant,,ENST00000344386,;ENTPD1-AS1,splice_region_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000451364,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000449197,;RP11-690P14.4,3_prime_UTR_variant,,ENST00000475252,;	1187	126	170	SUCCESS
ZNF518A	9849	.	GRCh37	10	97919856	97919856	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	59	146	0	ENST00000316045.5:n.2781A>C		p.*927*	ENST00000316045				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAACTCA	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000316045,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	4634	146	156	SUCCESS
MMP20	9313	.	GRCh37	11	102477304	102477304	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	30	154	0	ENST00000260228.2:c.915G>A	p.Val305=	p.V305=	ENST00000260228	NM_004771.3	305	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8318.1	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTCACAGC	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF125,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,SMART_domains:SM00120,Superfamily_domains:SSF50923	.	.	ENSP00000260228	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000260228	Transcript	.	.	ENSG00000137674	7167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP20_HUMAN	MMP20	HGNC	.	.	UPI000013D0B3	SNV	MMP20,synonymous_variant,p.%3D,ENST00000260228,;RP11-817J15.2,upstream_gene_variant,,ENST00000544115,;RP11-817J15.2,upstream_gene_variant,,ENST00000542119,;MMP20,non_coding_transcript_exon_variant,,ENST00000544938,;	928	154	154	SUCCESS
OR8D4	338662	.	GRCh37	11	123777270	123777270	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	130	0	ENST00000321355.2:c.132C>T	p.Ser44=	p.S44=	ENST00000321355	NM_001005197.1	44	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS31698.1	132	RADIA|MUTECT|MUSE	.	CTCAGCATGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF21,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000325381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321355	Transcript	.	.	ENSG00000181518	14840	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR8D4_HUMAN	OR8D4	HGNC	.	.	UPI0000040A83	SNV	OR8D4,synonymous_variant,p.%3D,ENST00000321355,;	162	130	104	SUCCESS
ROBO4	54538	.	GRCh37	11	124766129	124766129	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769226863	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	44	0	ENST00000306534.3:c.644A>G	p.His215Arg	p.H215R	ENST00000306534	NM_019055.5	215	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS8455.1	644	MUTECT|MUSE	.	CCCTATGTCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000304945	.	4/18	.	.	.	.	.	.	.	.	rs769226863	4/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.51)	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,missense_variant,p.His215Arg,ENST00000306534,;ROBO4,missense_variant,p.His70Arg,ENST00000533054,;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,non_coding_transcript_exon_variant,,ENST00000527279,;ROBO4,non_coding_transcript_exon_variant,,ENST00000526899,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000533337,;	1130	44	43	SUCCESS
RP11-428C19.4	0	.	GRCh37	11	19246058	19246058	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	20	0	ENST00000527978.1:n.146-323G>A		p.*49*	ENST00000527978				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7849.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TATATGTATGA	NONE	.	.	.	.	.	ENSP00000434199	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000527884	Transcript	.	.	ENSG00000129173	24727	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E2F8_HUMAN	E2F8	HGNC	E9PMT9_HUMAN	.	UPI00001F9E94	SNV	E2F8,3_prime_UTR_variant,,ENST00000527884,;E2F8,downstream_gene_variant,,ENST00000250024,;RP11-428C19.4,intron_variant,,ENST00000527978,;E2F8,downstream_gene_variant,,ENST00000529188,;	2984	20	14	SUCCESS
UBQLNL	143630	.	GRCh37	11	5537631	5537631	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	54	0	ENST00000380184.1:c.41G>C	p.Ser14Thr	p.S14T	ENST00000380184	NM_145053.4	14	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS31385.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACTCTGG	NONE	.	.	hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9,Superfamily_domains:SSF54236	.	.	ENSP00000369531	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380184	Transcript	.	.	ENSG00000175518	28294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.14)	.	UBQLN_HUMAN	UBQLNL	HGNC	.	.	UPI000066D8EC	SNV	UBQLNL,missense_variant,p.Ser14Thr,ENST00000380184,;HBG2,intron_variant,,ENST00000380259,;AC087380.14,downstream_gene_variant,,ENST00000411807,;	305	54	71	SUCCESS
SLC22A11	55867	.	GRCh37	11	64331793	64331793	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	66	127	0	ENST00000301891.4:c.835T>A	p.Ser279Thr	p.S279T	ENST00000301891	NM_018484.2	279	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS8074.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATCCGCC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF39,hmmpanther:PTHR24064,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000301891	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000301891	Transcript	.	.	ENSG00000168065	18120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	S22AB_HUMAN	SLC22A11	HGNC	.	.	UPI000003ED3F	SNV	SLC22A11,missense_variant,p.Ser279Thr,ENST00000377581,;SLC22A11,missense_variant,p.Ser279Thr,ENST00000377585,;SLC22A11,missense_variant,p.Ser279Thr,ENST00000301891,;SLC22A11,upstream_gene_variant,,ENST00000416590,;SLC22A11,intron_variant,,ENST00000490834,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000460745,;SLC22A11,intron_variant,,ENST00000478051,;SLC22A11,upstream_gene_variant,,ENST00000428570,;	1209	128	163	SUCCESS
MED13L	23389	.	GRCh37	12	116675396	116675396	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	84	212	0	ENST00000281928.3:c.187T>A	p.Cys63Ser	p.C63S	ENST00000281928	NM_015335.4	63	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS9177.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAGCGGA	NONE	.	.	Pfam_domain:PF11597,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	.	ENSP00000281928	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,missense_variant,p.Cys63Ser,ENST00000281928,;MED13L,missense_variant,p.Cys53Ser,ENST00000548743,;MED13L,non_coding_transcript_exon_variant,,ENST00000551197,;	394	212	206	SUCCESS
KCNC2	3747	.	GRCh37	12	75601377	75601377	+	synonymous_variant	Silent	SNP	C	C	A	rs1010822722	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	210	399	0	ENST00000549446.1:c.387G>T	p.Val129=	p.V129=	ENST00000549446	NM_001260497.1	129	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9007.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCACACGTC	NONE	.	.	Prints_domain:PR01498,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	.	.	ENSP00000449253	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000549446	Transcript	.	.	ENSG00000166006	6234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNC2_HUMAN	KCNC2	HGNC	.	.	UPI000004DB9B	SNV	KCNC2,synonymous_variant,p.%3D,ENST00000341669,;KCNC2,synonymous_variant,p.%3D,ENST00000393288,;KCNC2,synonymous_variant,p.%3D,ENST00000540018,;KCNC2,synonymous_variant,p.%3D,ENST00000548513,;KCNC2,synonymous_variant,p.%3D,ENST00000550433,;KCNC2,synonymous_variant,p.%3D,ENST00000298972,;KCNC2,synonymous_variant,p.%3D,ENST00000549446,;KCNC2,synonymous_variant,p.%3D,ENST00000350228,;	1068	400	482	SUCCESS
ADCY4	196883	.	GRCh37	14	24800430	24800430	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	38	69	1	ENST00000310677.4:c.802A>T	p.Arg268Trp	p.R268W	ENST00000310677	NM_001198568.1	268	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9627.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCTCTTGA	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000312126	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000310677	Transcript	.	.	ENSG00000129467	235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ADCY4_HUMAN	ADCY4	HGNC	Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN	.	UPI00000398CC	SNV	ADCY4,missense_variant,p.Arg3Ser,ENST00000396747,;ADCY4,missense_variant,p.Arg268Trp,ENST00000554068,;ADCY4,missense_variant,p.Arg268Trp,ENST00000418030,;ADCY4,missense_variant,p.Arg268Trp,ENST00000310677,;RIPK3,downstream_gene_variant,,ENST00000216274,;ADCY4,downstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000556932,;ADCY4,downstream_gene_variant,,ENST00000559167,;RP11-934B9.3,downstream_gene_variant,,ENST00000555591,;ADCY4,downstream_gene_variant,,ENST00000558563,;ADCY4,downstream_gene_variant,,ENST00000558125,;ADCY4,missense_variant,p.Arg136Trp,ENST00000557056,;ADCY4,missense_variant,p.Arg268Trp,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554577,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554674,;ADCY4,upstream_gene_variant,,ENST00000554959,;ADCY4,downstream_gene_variant,,ENST00000557099,;RIPK3,downstream_gene_variant,,ENST00000554756,;ADCY4,upstream_gene_variant,,ENST00000545213,;	916	70	77	SUCCESS
ADCY4	196883	.	GRCh37	14	24800431	24800431	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375760661	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	38	68	1	ENST00000310677.4:c.801G>T	p.Lys267Asn	p.K267N	ENST00000310677	NM_001198568.1	267	aaG/aaT	0	T:0.0002	.	.	.	.	A	K/N	protein_coding	YES	CCDS9627.1	801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCTTGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	T:0.0001	ENSP00000312126	.	6/26	.	.	.	.	.	.	.	.	rs375760661,COSM2033275	6/26	PASS	ENST00000310677	Transcript	.	.	ENSG00000129467	235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.965)	.	deleterious(0)	0,1	ADCY4_HUMAN	ADCY4	HGNC	Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN	.	UPI00000398CC	SNV	ADCY4,missense_variant,p.Arg3Ile,ENST00000396747,;ADCY4,missense_variant,p.Lys267Asn,ENST00000554068,;ADCY4,missense_variant,p.Lys267Asn,ENST00000418030,;ADCY4,missense_variant,p.Lys267Asn,ENST00000310677,;RIPK3,downstream_gene_variant,,ENST00000216274,;ADCY4,downstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000556932,;ADCY4,downstream_gene_variant,,ENST00000559167,;RP11-934B9.3,downstream_gene_variant,,ENST00000555591,;ADCY4,downstream_gene_variant,,ENST00000558563,;ADCY4,downstream_gene_variant,,ENST00000558125,;ADCY4,missense_variant,p.Lys135Asn,ENST00000557056,;ADCY4,missense_variant,p.Lys267Asn,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554577,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554674,;ADCY4,upstream_gene_variant,,ENST00000554959,;ADCY4,downstream_gene_variant,,ENST00000557099,;RIPK3,downstream_gene_variant,,ENST00000554756,;ADCY4,upstream_gene_variant,,ENST00000545213,;	915	69	77	SUCCESS
C15orf57	0	.	GRCh37	15	40849416	40849416	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs780282292	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	53	105	0	ENST00000558750.1:c.427A>T	p.Ser143Cys	p.S143C	ENST00000558750		143	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS42022.1	427	RADIA|MUTECT|MUSE	.	TTACCTCTCAT	NONE	byFrequency	.	Pfam_domain:PF14989,hmmpanther:PTHR31800,hmmpanther:PTHR31800:SF1	.	.	ENSP00000452773	.	3/4	.	.	.	.	.	.	.	.	rs780282292	3/4	PASS	ENST00000558750	Transcript	.	.	ENSG00000128891	28295	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	CO057_HUMAN	C15orf57	HGNC	H0YN78_HUMAN,H0YLN5_HUMAN	.	UPI000045681E	SNV	C15orf57,missense_variant,p.Ser134Cys,ENST00000560305,;C15orf57,missense_variant,p.Arg134Trp,ENST00000558113,;C15orf57,missense_variant,p.Ser134Cys,ENST00000358005,;C15orf57,missense_variant,p.Ser134Cys,ENST00000559103,;C15orf57,missense_variant,p.Ser143Cys,ENST00000558750,;C15orf57,missense_variant,p.Ser35Cys,ENST00000558918,;C15orf57,missense_variant,p.Arg134Trp,ENST00000561011,;C15orf57,missense_variant,p.Arg134Trp,ENST00000558871,;C15orf57,missense_variant,p.Ser134Cys,ENST00000416810,;C15orf57,missense_variant,p.Arg134Trp,ENST00000559911,;RP11-111A22.1,non_coding_transcript_exon_variant,,ENST00000561460,;RP11-111A22.1,downstream_gene_variant,,ENST00000561039,;C15orf57,downstream_gene_variant,,ENST00000560535,;C15orf57,downstream_gene_variant,,ENST00000560109,;C15orf57,missense_variant,p.Ser134Cys,ENST00000559153,;C15orf57,missense_variant,p.Ser134Cys,ENST00000559291,;	627	105	123	SUCCESS
LOXL1	4016	.	GRCh37	15	74219396	74219396	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	47	0	ENST00000261921.7:c.272G>A	p.Ser91Asn	p.S91N	ENST00000261921	NM_005576.2	91	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS10253.1	272	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGGGAGCCCCC	NONE	.	.	hmmpanther:PTHR19331:SF4,hmmpanther:PTHR19331	.	.	ENSP00000261921	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000261921	Transcript	1	.	ENSG00000129038	6665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.5)	.	LOXL1_HUMAN	LOXL1	HGNC	.	.	UPI000013D224	SNV	LOXL1,missense_variant,p.Ser91Asn,ENST00000261921,;LOXL1-AS1,intron_variant,,ENST00000564963,;LOXL1-AS1,intron_variant,,ENST00000565756,;LOXL1-AS1,intron_variant,,ENST00000562965,;LOXL1-AS1,intron_variant,,ENST00000564194,;LOXL1-AS1,intron_variant,,ENST00000565416,;LOXL1-AS1,intron_variant,,ENST00000568087,;LOXL1-AS1,intron_variant,,ENST00000566675,;LOXL1-AS1,intron_variant,,ENST00000567257,;LOXL1-AS1,intron_variant,,ENST00000562739,;LOXL1-AS1,upstream_gene_variant,,ENST00000567644,;LOXL1-AS1,upstream_gene_variant,,ENST00000562130,;LOXL1-AS1,upstream_gene_variant,,ENST00000568229,;LOXL1,missense_variant,p.Ser91Asn,ENST00000566011,;	598	48	69	SUCCESS
BTBD1	53339	.	GRCh37	15	83686852	83686852	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	119	251	1	ENST00000261721.4:c.1416T>C	p.Asp472=	p.D472=	ENST00000261721	NM_001011885.1	472	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS10322.1	1416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCATCTTC	NONE	.	.	Pfam_domain:PF08005	.	.	ENSP00000261721	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261721	Transcript	.	.	ENSG00000064726	1120	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBD1_HUMAN	BTBD1	HGNC	B7Z572_HUMAN	.	UPI00000012BE	SNV	BTBD1,synonymous_variant,p.%3D,ENST00000261721,;BTBD1,3_prime_UTR_variant,,ENST00000379403,;RP11-382A20.7,intron_variant,,ENST00000570202,;RP11-382A20.5,intron_variant,,ENST00000566841,;RP11-382A20.6,upstream_gene_variant,,ENST00000568441,;RP11-90B9.2,downstream_gene_variant,,ENST00000560450,;BTBD1,downstream_gene_variant,,ENST00000559652,;BTBD1,downstream_gene_variant,,ENST00000558344,;AC022558.1,downstream_gene_variant,,ENST00000328906,;	1619	252	297	SUCCESS
FURIN	5045	.	GRCh37	15	91423324	91423324	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	72	0	ENST00000268171.3:c.1377A>T	p.Lys459Asn	p.K459N	ENST00000268171	NM_002569.2	459	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS10364.1	1377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAGACAT	NONE	.	.	Superfamily_domains:SSF49785,Gene3D:2.60.120.260,hmmpanther:PTHR10795:SF325,hmmpanther:PTHR10795	.	.	ENSP00000268171	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.02)	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,missense_variant,p.Lys459Asn,ENST00000268171,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000559355,;FES,upstream_gene_variant,,ENST00000450438,;FES,upstream_gene_variant,,ENST00000394300,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000444422,;FES,upstream_gene_variant,,ENST00000328850,;FURIN,downstream_gene_variant,,ENST00000559353,;FURIN,3_prime_UTR_variant,,ENST00000558794,;FURIN,non_coding_transcript_exon_variant,,ENST00000560018,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	1656	72	101	SUCCESS
PRMT7	54496	.	GRCh37	16	68358647	68358647	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	72	157	0	ENST00000339507.5:c.194A>G	p.Lys65Arg	p.K65R	ENST00000339507		65	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS10866.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAAGGCCT	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF4,hmmpanther:PTHR11006,Gene3D:3.40.50.150,Pfam_domain:PF06325,PIRSF_domain:PIRSF036946,Superfamily_domains:SSF53335	.	.	ENSP00000343103	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000339507	Transcript	.	.	ENSG00000132600	25557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.25)	.	ANM7_HUMAN	PRMT7	HGNC	H3BSS9_HUMAN,H3BRQ9_HUMAN,H3BRD3_HUMAN,H3BPZ8_HUMAN,H3BNS2_HUMAN	.	UPI0000041857	SNV	PRMT7,missense_variant,p.Lys65Arg,ENST00000339507,;PRMT7,missense_variant,p.Lys65Arg,ENST00000348497,;PRMT7,missense_variant,p.Lys65Arg,ENST00000569571,;PRMT7,missense_variant,p.Lys65Arg,ENST00000569047,;PRMT7,missense_variant,p.Lys65Arg,ENST00000566657,;PRMT7,missense_variant,p.Lys65Arg,ENST00000565745,;PRMT7,intron_variant,,ENST00000441236,;PRMT7,intron_variant,,ENST00000449359,;RNU4-30P,downstream_gene_variant,,ENST00000410245,;PRMT7,non_coding_transcript_exon_variant,,ENST00000563520,;PRMT7,non_coding_transcript_exon_variant,,ENST00000563562,;PRMT7,non_coding_transcript_exon_variant,,ENST00000563443,;PRMT7,non_coding_transcript_exon_variant,,ENST00000564441,;PRMT7,intron_variant,,ENST00000564050,;PRMT7,intron_variant,,ENST00000565761,;PRMT7,missense_variant,p.Lys65Arg,ENST00000562381,;PRMT7,missense_variant,p.Lys65Arg,ENST00000568975,;PRMT7,3_prime_UTR_variant,,ENST00000562050,;PRMT7,3_prime_UTR_variant,,ENST00000566341,;PRMT7,non_coding_transcript_exon_variant,,ENST00000565356,;PRMT7,non_coding_transcript_exon_variant,,ENST00000562456,;PRMT7,non_coding_transcript_exon_variant,,ENST00000561806,;PRMT7,non_coding_transcript_exon_variant,,ENST00000567542,;PRMT7,downstream_gene_variant,,ENST00000566430,;	1024	157	100	SUCCESS
ATP2C2	9914	.	GRCh37	16	84476156	84476156	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778190381	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	34	80	0	ENST00000262429.4:c.1352C>T	p.Ala451Val	p.A451V	ENST00000262429	NM_014861.2	451	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42207.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACGCCGTGA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01522,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000262429	.	15/27	.	.	.	.	.	.	.	.	rs778190381	15/27	PASS	ENST00000262429	Transcript	.	.	ENSG00000064270	29103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.33)	.	AT2C2_HUMAN	ATP2C2	HGNC	.	.	UPI0000252110	SNV	ATP2C2,missense_variant,p.Ala451Val,ENST00000262429,;ATP2C2,missense_variant,p.Ala451Val,ENST00000416219,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000420010,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565631,;ATP2C2,downstream_gene_variant,,ENST00000564099,;	1441	80	49	SUCCESS
ZC3H18	124245	.	GRCh37	16	88688677	88688677	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	98	188	0	ENST00000301011.5:c.1548G>T	p.Lys516Asn	p.K516N	ENST00000301011	NM_144604.3	516	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS10967.1	1548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGGACCC	NONE	.	.	hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10	.	.	ENSP00000301011	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000301011	Transcript	.	.	ENSG00000158545	25091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	ZCH18_HUMAN	ZC3H18	HGNC	H3BRH3_HUMAN,B3KRL4_HUMAN	.	UPI00001FF676	SNV	ZC3H18,missense_variant,p.Lys540Asn,ENST00000452588,;ZC3H18,missense_variant,p.Lys181Asn,ENST00000567085,;ZC3H18,missense_variant,p.Lys516Asn,ENST00000301011,;ZC3H18,upstream_gene_variant,,ENST00000564341,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000564161,;ZC3H18,upstream_gene_variant,,ENST00000566496,;ZC3H18,upstream_gene_variant,,ENST00000563382,;	1748	189	119	SUCCESS
SREBF1	6720	.	GRCh37	17	17719813	17719813	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs946562068	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	37	53	0	ENST00000261646.5:c.2005G>A	p.Ala669Thr	p.A669T	ENST00000261646	NM_004176.4	669	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32583.1	2095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCGTCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,missense_variant,p.Ala669Thr,ENST00000338854,;SREBF1,missense_variant,p.Ala415Thr,ENST00000395757,;SREBF1,missense_variant,p.Ala699Thr,ENST00000355815,;SREBF1,missense_variant,p.Ala669Thr,ENST00000261646,;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,upstream_gene_variant,,ENST00000478616,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,downstream_gene_variant,,ENST00000435530,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000470247,;	2265	53	68	SUCCESS
RAB34	83871	.	GRCh37	17	27044336	27044336	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	42	46	0	ENST00000301043.6:c.-52G>A		p.*18*	ENST00000301043	NM_001256277.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45635.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGCGTCAG	NONE	.	.	.	.	.	ENSP00000410403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000447716	Transcript	.	.	ENSG00000109113	16519	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RAB34	HGNC	K7EIF2_HUMAN,J3KQW8_HUMAN,C9JBG0_HUMAN,B4DNC0_HUMAN	.	UPI0001929526	SNV	RAB34,5_prime_UTR_variant,,ENST00000301043,;RAB34,5_prime_UTR_variant,,ENST00000419712,;RAB34,5_prime_UTR_variant,,ENST00000395242,;RAB34,5_prime_UTR_variant,,ENST00000395243,;RAB34,5_prime_UTR_variant,,ENST00000415040,;RAB34,5_prime_UTR_variant,,ENST00000395245,;RAB34,5_prime_UTR_variant,,ENST00000353676,;RAB34,5_prime_UTR_variant,,ENST00000580843,;RAB34,5_prime_UTR_variant,,ENST00000582934,;RAB34,intron_variant,,ENST00000583538,;RAB34,intron_variant,,ENST00000430132,;RAB34,intron_variant,,ENST00000436730,;RAB34,intron_variant,,ENST00000447716,;RAB34,intron_variant,,ENST00000450529,;RAB34,intron_variant,,ENST00000412625,;RAB34,intron_variant,,ENST00000453384,;RPL23A,upstream_gene_variant,,ENST00000472628,;RPL23A,upstream_gene_variant,,ENST00000394938,;RPL23A,upstream_gene_variant,,ENST00000394935,;RPL23A,upstream_gene_variant,,ENST00000422514,;RPL23A,upstream_gene_variant,,ENST00000578181,;RPL23A,upstream_gene_variant,,ENST00000355731,;RPL23A,upstream_gene_variant,,ENST00000496182,;SNORD42B,upstream_gene_variant,,ENST00000458893,;AC010761.8,downstream_gene_variant,,ENST00000582718,;RAB34,5_prime_UTR_variant,,ENST00000422279,;RAB34,non_coding_transcript_exon_variant,,ENST00000482688,;RAB34,non_coding_transcript_exon_variant,,ENST00000483554,;RPL23A,upstream_gene_variant,,ENST00000582736,;RAB34,upstream_gene_variant,,ENST00000481501,;RAB34,upstream_gene_variant,,ENST00000496866,;RAB34,upstream_gene_variant,,ENST00000474704,;RAB34,upstream_gene_variant,,ENST00000484161,;	.	46	71	SUCCESS
ATAD5	79915	.	GRCh37	17	29219640	29219640	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs77256126	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	116	229	0	ENST00000321990.4:c.4274A>T	p.Asn1425Ile	p.N1425I	ENST00000321990	NM_024857.3	1425	aAt/aTt	0	.	G:0	.	G:0	.	T	N/I	protein_coding	YES	CCDS11260.1	4274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAATGTAC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR15828:SF1,hmmpanther:PTHR15828	G:0.002	.	ENSP00000313171	G:0	20/23	.	.	.	.	.	.	.	.	rs77256126	20/23	PASS	ENST00000321990	Transcript	.	G:0.0004	ENSG00000176208	25752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	G:0	deleterious(0)	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,missense_variant,p.Asn1425Ile,ENST00000321990,;TEFM,downstream_gene_variant,,ENST00000579183,;	4652	229	275	SUCCESS
TBX2	6909	.	GRCh37	17	59485703	59485703	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	55	112	0	ENST00000240328.3:c.1975C>G	p.Leu659Val	p.L659V	ENST00000240328	NM_005994.3	659	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11627.2	1975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCTGCCC	NONE	.	.	hmmpanther:PTHR11267:SF82,hmmpanther:PTHR11267	.	.	ENSP00000240328	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000240328	Transcript	.	.	ENSG00000121068	11597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.46)	.	TBX2_HUMAN	TBX2	HGNC	.	.	UPI000020116F	SNV	TBX2,missense_variant,p.Leu659Val,ENST00000240328,;C17orf82,upstream_gene_variant,,ENST00000335108,;RP11-332H18.4,intron_variant,,ENST00000592009,;TBX2,upstream_gene_variant,,ENST00000586986,;TBX2,3_prime_UTR_variant,,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;	2256	112	156	SUCCESS
MAP3K3	4215	.	GRCh37	17	61700049	61700049	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs552622103	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	11	1	ENST00000361733.3:c.-71C>T		p.*24*	ENST00000361733	NM_002401.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS32701.1	.	MUSE|VARSCANS	.	CCGGGCCCCCG	NONE	byFrequency|by1000G	.	.	T:0.004	.	ENSP00000354927	T:0.001	1/17	.	.	.	.	.	.	.	.	rs552622103	1/17	PASS	ENST00000361357	Transcript	.	T:0.0010	ENSG00000198909	6855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	M3K3_HUMAN	MAP3K3	HGNC	Q7Z4E6_HUMAN	.	UPI0000074003	SNV	MAP3K3,5_prime_UTR_variant,,ENST00000361357,;MAP3K3,5_prime_UTR_variant,,ENST00000584573,;MAP3K3,5_prime_UTR_variant,,ENST00000361733,;MAP3K3,intron_variant,,ENST00000579585,;MAP3K3,upstream_gene_variant,,ENST00000577395,;MAP3K3,upstream_gene_variant,,ENST00000577597,;	248	12	22	SUCCESS
TP53	7157	.	GRCh37	17	7578555	7578555	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs868137297	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	34	69	0	ENST00000269305.4:c.376-1G>A		p.X126_splice	ENST00000269305	NM_001126112.2	126		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11118.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTACTGTAG	SITE|p.?|c.376-1G>A|19,SITE|p.?|c.376-1G>A|11,SITE|p.?|c.376-1G>A|10,SITE|p.?|c.376-1G>A|19,SITE|p.?|c.376-1G>A|11,SITE|p.?|c.97-1G>A|20,SITE|p.?|c.376-1G>A|19,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.Y126_K132delYSPALNK|c.376_396del21|6,BUFFER|p.Y126_N131delYSPALN|c.376_393del18|3,BUFFER|p.P128L|c.383C>T|3,BUFFER|p.P128fs*42|c.382delC|3,BUFFER|p.P128S|c.382C>T|7,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S127Y|c.380C>A|10,BUFFER|p.S34F|c.101C>T|11,BUFFER|p.S127F|c.380C>T|4,BUFFER|p.S127F|c.380C>T|33,BUFFER|p.S127F|c.380C>T|3,BUFFER|p.S127F|c.380C>T|11,BUFFER|p.S34P|c.100T>C|4,BUFFER|p.S34T|c.100T>A|4,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.S127P|c.379T>C|8,BUFFER|p.S127T|c.379T>A|4,BUFFER|p.S127T|c.379T>A|10,BUFFER|p.S127T|c.379T>A|3,BUFFER|p.S127P|c.379T>C|4,BUFFER|p.Y126*|c.378C>G|3,BUFFER|p.Y126*|c.378C>G|4,BUFFER|p.Y126*|c.378C>G|3,BUFFER|p.Y126*|c.378C>A|4,BUFFER|p.Y33*|c.99C>G|3,BUFFER|p.Y126C|c.377A>G|6,BUFFER|p.Y33C|c.98A>G|6,BUFFER|p.Y126C|c.377A>G|3,BUFFER|p.Y126C|c.377A>G|6,BUFFER|p.Y126C|c.377A>G|9,BUFFER|p.Y126S|c.377A>C|3,BUFFER|p.Y126C|c.377A>G|5,BUFFER|p.Y126N|c.376T>A|7,BUFFER|p.Y33D|c.97T>G|7,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.Y126D|c.376T>G|10,BUFFER|p.Y126D|c.376T>G|7,BUFFER|p.?|c.97-1G>T|3,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>T|3,BUFFER|p.?|c.376-1G>T|9,BUFFER|p.?|c.376-2A>G|4,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.97-2A>T|3,BUFFER|p.?|c.97-2A>G|10,BUFFER|p.?|c.376-2A>G|17,BUFFER|p.?|c.376-2A>G|10,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-2A>G|6,BUFFER|p.?|c.376-2A>C|4,BUFFER|p.?|c.376-2A>T|3,BUFFER|p.?|c.376-4A>G|3	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	TP53_g.12363del,TP53_g.12363G>A,TP53_g.12363G>T,TP53_g.12363G>C,COSM21572,COSM6900,COSM22908,COSM45809,COSM45364,COSM1167885,COSM218537,COSM218536,COSM1167886,COSM3378369,COSM3388229,COSM2156353,COSM2744965,COSM218538,COSM1167887	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	4/10	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	.	69	42	SUCCESS
ABHD3	171586	.	GRCh37	18	19263881	19263881	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs562863991	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	136	367	0	ENST00000289119.2:c.555G>A		p.X185_splice	ENST00000289119	NM_138340.4	185	ttG/ttA	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS32802.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCAAGAG	NONE	by1000G	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF005211,Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10794:SF24,hmmpanther:PTHR10794	T:0.001	.	ENSP00000289119	T:0	4/9	.	.	.	.	.	.	.	.	rs562863991	4/9	PASS	ENST00000289119	Transcript	.	T:0.0002	ENSG00000158201	18718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ABHD3_HUMAN	ABHD3	HGNC	.	.	UPI0000163938	SNV	ABHD3,synonymous_variant,p.%3D,ENST00000289119,;ABHD3,synonymous_variant,p.%3D,ENST00000584464,;ABHD3,splice_region_variant,,ENST00000578270,;ABHD3,intron_variant,,ENST00000580981,;MIR320C1,downstream_gene_variant,,ENST00000408566,;RP11-13N13.6,downstream_gene_variant,,ENST00000578583,;ABHD3,intron_variant,,ENST00000579875,;ABHD3,splice_region_variant,,ENST00000577891,;ABHD3,non_coding_transcript_exon_variant,,ENST00000577928,;	695	368	360	SUCCESS
SLC39A6	25800	.	GRCh37	18	33703524	33703524	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	98	139	0	ENST00000269187.5:c.1074G>T	p.Leu358=	p.L358=	ENST00000269187	NM_012319.3	358	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42428.1	1074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTCAGGAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF8,Pfam_domain:PF02535	.	.	ENSP00000269187	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000269187	Transcript	.	.	ENSG00000141424	18607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39A6_HUMAN	SLC39A6	HGNC	K7EQ91_HUMAN	.	UPI000004EC93	SNV	SLC39A6,synonymous_variant,p.%3D,ENST00000269187,;SLC39A6,synonymous_variant,p.%3D,ENST00000590986,;SLC39A6,synonymous_variant,p.%3D,ENST00000440549,;SLC39A6,upstream_gene_variant,,ENST00000586829,;	1288	139	195	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13919681	13919681	+	synonymous_variant	Silent	SNP	C	C	A	rs756132622	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	58	123	0	ENST00000254323.2:c.744C>A	p.Ile248=	p.I248=	ENST00000254323	NM_023072.2	248	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS32924.1	744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCGAGGA	NONE	byFrequency	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	4/13	.	.	.	.	.	.	.	.	rs756132622	4/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,synonymous_variant,p.%3D,ENST00000254323,;ZSWIM4,synonymous_variant,p.%3D,ENST00000590508,;ZSWIM4,5_prime_UTR_variant,,ENST00000440752,;	933	123	134	SUCCESS
MAP1S	55201	.	GRCh37	19	17837678	17837678	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	62	103	0	ENST00000324096.4:c.1485C>T	p.Gly495=	p.G495=	ENST00000324096	NM_018174.4	495	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32954.1	1485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCAGGA	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,synonymous_variant,p.%3D,ENST00000544059,;MAP1S,synonymous_variant,p.%3D,ENST00000324096,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;	1636	103	134	SUCCESS
ZNF536	9745	.	GRCh37	19	31040153	31040153	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	52	89	0	ENST00000355537.3:c.3627G>A	p.Leu1209=	p.L1209=	ENST00000355537	NM_014717.1	1209	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32984.1	3627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;ZNF536,downstream_gene_variant,,ENST00000585628,;	3774	89	109	SUCCESS
KMT2B	9757	.	GRCh37	19	36214101	36214101	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1287498488	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	59	0	ENST00000222270.7:c.2927A>G	p.Gln976Arg	p.Q976R	ENST00000222270	NM_014727.1	976	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS46055.1	2927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCAGGACT	NONE	.	.	PROSITE_profiles:PS51058,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,Pfam_domain:PF02008,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	6/37	.	.	.	.	.	.	.	.	.	6/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Gln976Arg,ENST00000420124,;KMT2B,missense_variant,p.Gln976Arg,ENST00000222270,;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;	2927	59	65	SUCCESS
ZNF28	7576	.	GRCh37	19	53321213	53321213	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	19	0	ENST00000457749.2:c.-2G>A		p.*1*	ENST00000457749	NM_006969.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33093.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCCTGAC	NONE	.	.	.	.	.	ENSP00000397693	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,5_prime_UTR_variant,,ENST00000457749,;ZNF28,5_prime_UTR_variant,,ENST00000391783,;ZNF28,5_prime_UTR_variant,,ENST00000596559,;ZNF28,5_prime_UTR_variant,,ENST00000414252,;ZNF28,5_prime_UTR_variant,,ENST00000594602,;ZNF28,non_coding_transcript_exon_variant,,ENST00000542421,;ZNF28,non_coding_transcript_exon_variant,,ENST00000464469,;	119	19	20	SUCCESS
ZNF813	126017	.	GRCh37	19	53994274	53994274	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	74	134	0	ENST00000396403.4:c.788G>T	p.Arg263Ile	p.R263I	ENST00000396403	NM_001004301.3	263	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS46172.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTAGATGTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379684	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396403	Transcript	.	.	ENSG00000198346	33257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	deleterious(0.02)	.	ZN813_HUMAN	ZNF813	HGNC	C9JZ01_HUMAN	.	UPI000040C511	SNV	ZNF813,missense_variant,p.Arg263Ile,ENST00000396403,;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	916	134	169	SUCCESS
GPATCH4	54865	.	GRCh37	1	156567870	156567870	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	73	147	1	ENST00000438976.2:c.305A>G	p.Tyr102Cys	p.Y102C	ENST00000438976		102	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS44245.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTATAACGG	NONE	.	.	hmmpanther:PTHR23149:SF8,hmmpanther:PTHR23149	.	.	ENSP00000396441	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000438976	Transcript	.	.	ENSG00000160818	25982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.17)	.	.	GPATCH4	HGNC	E9PAV9_HUMAN	.	UPI00001B55A9	SNV	GPATCH4,missense_variant,p.Tyr102Cys,ENST00000438976,;GPATCH4,missense_variant,p.Tyr97Cys,ENST00000368232,;GPATCH4,missense_variant,p.Tyr51Cys,ENST00000334588,;GPATCH4,intron_variant,,ENST00000415314,;APOA1BP,downstream_gene_variant,,ENST00000368235,;APOA1BP,downstream_gene_variant,,ENST00000368234,;APOA1BP,downstream_gene_variant,,ENST00000368233,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000497287,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000531129,;APOA1BP,downstream_gene_variant,,ENST00000488840,;GPATCH4,missense_variant,p.Tyr97Cys,ENST00000474904,;GPATCH4,missense_variant,p.Tyr97Cys,ENST00000463513,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000506832,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000498756,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000527691,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000494414,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000473910,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000531900,;GPATCH4,downstream_gene_variant,,ENST00000525375,;GPATCH4,upstream_gene_variant,,ENST00000498641,;GPATCH4,upstream_gene_variant,,ENST00000529520,;	336	148	188	SUCCESS
FCRL1	115350	.	GRCh37	1	157772322	157772322	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1172383985	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	68	99	0	ENST00000368176.3:c.452C>A	p.Ala151Asp	p.A151D	ENST00000368176	NM_001159398.1	151	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1170.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGCCCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357158	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.32)	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Ala151Asp,ENST00000368176,;FCRL1,missense_variant,p.Ala151Asp,ENST00000358292,;FCRL1,missense_variant,p.Ala151Asp,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,intron_variant,,ENST00000368175,;FCRL1,downstream_gene_variant,,ENST00000480310,;FCRL1,upstream_gene_variant,,ENST00000495126,;FCRL1,upstream_gene_variant,,ENST00000463001,;	520	99	205	SUCCESS
CD1E	913	.	GRCh37	1	158326432	158326432	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	77	0	ENST00000368167.3:c.998+55del		p.*333*	ENST00000368167	NM_030893.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41417.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTCCTTTTTC	NONE	.	.	.	.	.	ENSP00000357149	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	4	.	MODIFIER	5/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	deletion	CD1E,3_prime_UTR_variant,,ENST00000434258,;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368165,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368166,;CD1E,intron_variant,,ENST00000444681,;CD1E,intron_variant,,ENST00000368161,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368160,;CD1E,intron_variant,,ENST00000368167,;CD1E,intron_variant,,ENST00000368156,;CD1E,intron_variant,,ENST00000368164,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000452291,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	.	77	138	SUCCESS
ATP1A2	477	.	GRCh37	1	160094210	160094210	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	34	73	0	ENST00000361216.3:c.620A>G	p.His207Arg	p.H207R	ENST00000361216	NM_000702.3	207	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS1196.1	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCATGGCT	NONE	.	.	hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00122,Gene3D:2.70.150.10,Superfamily_domains:0049471	.	.	ENSP00000354490	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.28)	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,missense_variant,p.His207Arg,ENST00000361216,;ATP1A2,missense_variant,p.His207Arg,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000468587,;ATP1A2,downstream_gene_variant,,ENST00000478587,;	709	73	113	SUCCESS
CACNA1E	777	.	GRCh37	1	181693620	181693620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	47	45	0	ENST00000367573.2:c.2089G>T	p.Val697Leu	p.V697L	ENST00000367573	NM_001205293.1	697	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS55664.1	2089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGTGTTC	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000356545	.	17/48	.	.	.	.	.	.	.	.	.	17/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.11)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Val648Leu,ENST00000358338,;CACNA1E,missense_variant,p.Val304Leu,ENST00000367567,;CACNA1E,missense_variant,p.Val648Leu,ENST00000357570,;CACNA1E,missense_variant,p.Val697Leu,ENST00000360108,;CACNA1E,missense_variant,p.Val697Leu,ENST00000526775,;CACNA1E,missense_variant,p.Val697Leu,ENST00000367573,;CACNA1E,missense_variant,p.Val697Leu,ENST00000367570,;	2089	45	91	SUCCESS
USH2A	7399	.	GRCh37	1	216011440	216011440	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	61	129	0	ENST00000307340.3:c.9264A>G	p.Glu3088=	p.E3088=	ENST00000307340	NM_206933.2	3088	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS31025.1	9264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTTCAAC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	47/72	.	.	.	.	.	.	.	.	.	47/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	9651	129	199	SUCCESS
GPR137B	7107	.	GRCh37	1	236306038	236306038	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199613305	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	55	49	0	ENST00000366592.3:c.116C>A	p.Pro39His	p.P39H	ENST00000366592	NM_003272.3	39	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1609.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCCTACG	NONE	.	.	hmmpanther:PTHR15146:SF0,hmmpanther:PTHR15146	.	.	ENSP00000355551	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000366592	Transcript	.	.	ENSG00000077585	11862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.03)	.	G137B_HUMAN	GPR137B	HGNC	Q5TAF0_HUMAN,B4DI47_HUMAN	.	UPI0000050441	SNV	GPR137B,missense_variant,p.Pro39His,ENST00000366591,;GPR137B,missense_variant,p.Pro39His,ENST00000366592,;GPR137B,upstream_gene_variant,,ENST00000419162,;	207	49	93	SUCCESS
MMACHC	25974	.	GRCh37	1	45974808	45974808	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201601241	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	73	0	ENST00000401061.4:c.770C>T	p.Pro257Leu	p.P257L	ENST00000401061	NM_015506.2	257	cCc/cTc	0	T:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS41324.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCCAAGA	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000383840	.	4/4	.	.	.	.	.	.	.	.	rs201601241	4/4	PASS	ENST00000401061	Transcript	.	.	ENSG00000132763	24525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	tolerated_low_confidence(0.1)	.	MMAC_HUMAN	MMACHC	HGNC	.	.	UPI00001C1D6D	SNV	MMACHC,missense_variant,p.Pro257Leu,ENST00000401061,;PRDX1,downstream_gene_variant,,ENST00000372079,;PRDX1,downstream_gene_variant,,ENST00000319248,;PRDX1,downstream_gene_variant,,ENST00000262746,;MMACHC,upstream_gene_variant,,ENST00000477188,;	1050	73	81	SUCCESS
ODF2L	57489	.	GRCh37	1	86848670	86848670	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs561792715	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	362	13	351	1	ENST00000317336.7:c.451G>A	p.Val151Ile	p.V151I	ENST00000317336	NM_001184765.1	151	Gta/Ata	0	.	T:0	.	T:0.0029	.	T	V/I	protein_coding	YES	CCDS41354.2	451	MUTECT|MUSE	.	AAATACCTTCT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23162:SF7,hmmpanther:PTHR23162	T:0	.	ENSP00000359600	T:0	6/18	.	.	.	.	.	.	.	.	rs561792715,rs779255181	6/18	PASS	ENST00000359242	Transcript	.	T:0.0004	ENSG00000122417	29225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.036)	T:0	tolerated(0.84)	.	ODF2L_HUMAN	ODF2L	HGNC	B5ME44_HUMAN	.	UPI00001C1D6A	SNV	ODF2L,missense_variant,p.Val20Ile,ENST00000394731,;ODF2L,missense_variant,p.Val20Ile,ENST00000479890,;ODF2L,missense_variant,p.Val151Ile,ENST00000370566,;ODF2L,missense_variant,p.Val151Ile,ENST00000294678,;ODF2L,missense_variant,p.Val151Ile,ENST00000359242,;ODF2L,missense_variant,p.Val27Ile,ENST00000460698,;ODF2L,missense_variant,p.Val151Ile,ENST00000317336,;ODF2L,missense_variant,p.Val20Ile,ENST00000394733,;ODF2L,missense_variant,p.Val151Ile,ENST00000370567,;ODF2L,downstream_gene_variant,,ENST00000478286,;ODF2L,downstream_gene_variant,,ENST00000486215,;ODF2L,3_prime_UTR_variant,,ENST00000488879,;ODF2L,non_coding_transcript_exon_variant,,ENST00000472368,;ODF2L,non_coding_transcript_exon_variant,,ENST00000480440,;ODF2L,non_coding_transcript_exon_variant,,ENST00000496592,;	733	352	375	SUCCESS
SLC12A5	57468	.	GRCh37	20	44669254	44669254	+	splice_donor_variant	Splice_Site	SNP	G	G	C	rs142641765	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	49	0	ENST00000454036.2:c.923+1G>C		p.X308_splice	ENST00000454036	NM_001134771.1	308		0	A:0	.	.	.	.	C	.	protein_coding	YES	CCDS46610.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGTGAGT	NONE	byCluster	.	.	.	A:0.0001	ENSP00000387694	.	.	.	.	.	.	.	.	.	.	rs142641765,COSM1291126	.	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	HIGH	7/25	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,splice_donor_variant,,ENST00000454036,;SLC12A5,splice_donor_variant,,ENST00000243964,;SLC12A5,synonymous_variant,p.%3D,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608944,;SLC12A5,upstream_gene_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;	.	49	70	SUCCESS
CECR6	0	.	GRCh37	22	17601355	17601355	+	synonymous_variant	Silent	SNP	G	G	A	rs768757723	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	37	1	ENST00000331437.3:c.663C>T	p.Ala221=	p.A221=	ENST00000331437	NM_031890.3	221	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13740.1	663	SOMATICSNIPER|MUTECT|VARSCANS	.	GTGACGGCGAT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF1	.	.	ENSP00000329318	.	1/1	.	.	.	.	.	.	.	.	rs768757723	1/1	PASS	ENST00000331437	Transcript	.	.	ENSG00000183307	1844	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CECR6_HUMAN	CECR6	HGNC	.	.	UPI0000127513	SNV	CECR6,synonymous_variant,p.%3D,ENST00000331437,;CECR6,intron_variant,,ENST00000399875,;AC006946.15,upstream_gene_variant,,ENST00000441544,;IL17RA,downstream_gene_variant,,ENST00000319363,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	789	38	43	SUCCESS
NHP2L1	0	.	GRCh37	22	42071125	42071125	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	62	64	0	ENST00000215956.5:c.199C>T	p.Leu67=	p.L67=	ENST00000215956		67	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14022.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGAATGA	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00881,Superfamily_domains:SSF55315,Pfam_domain:PF01248,Gene3D:3.30.1330.30,hmmpanther:PTHR23105	.	.	ENSP00000383949	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401959	Transcript	.	.	ENSG00000100138	7819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NH2L1_HUMAN	NHP2L1	HGNC	Q6FHM6_HUMAN	.	UPI0000026E49	SNV	NHP2L1,synonymous_variant,p.%3D,ENST00000402458,;NHP2L1,synonymous_variant,p.%3D,ENST00000215956,;NHP2L1,synonymous_variant,p.%3D,ENST00000355257,;NHP2L1,synonymous_variant,p.%3D,ENST00000401959,;RNU6-476P,upstream_gene_variant,,ENST00000384726,;NHP2L1,non_coding_transcript_exon_variant,,ENST00000463675,;	516	64	98	SUCCESS
MFSD9	84804	.	GRCh37	2	103340215	103340215	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	92	0	ENST00000258436.5:c.581A>G	p.Glu194Gly	p.E194G	ENST00000258436	NM_032718.3	194	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2063.1	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTCTAAT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF492,hmmpanther:PTHR24003,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000258436	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000258436	Transcript	.	.	ENSG00000135953	28158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious(0.01)	.	MFSD9_HUMAN	MFSD9	HGNC	B4DKY6_HUMAN	.	UPI0000070215	SNV	MFSD9,missense_variant,p.Glu194Gly,ENST00000258436,;MFSD9,3_prime_UTR_variant,,ENST00000438943,;MFSD9,3_prime_UTR_variant,,ENST00000428085,;MFSD9,3_prime_UTR_variant,,ENST00000411991,;MFSD9,3_prime_UTR_variant,,ENST00000437075,;MFSD9,downstream_gene_variant,,ENST00000421966,;	625	92	94	SUCCESS
GPR148	344561	.	GRCh37	2	131486815	131486815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	85	0	ENST00000309926.4:c.91G>A	p.Ala31Thr	p.A31T	ENST00000309926	NM_207364.2	31	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2163.1	91	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGCAGCC	NONE	.	.	.	.	.	ENSP00000308908	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309926	Transcript	.	.	ENSG00000173302	23623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	tolerated(0.53)	.	GP148_HUMAN	GPR148	HGNC	.	.	UPI0000048E0D	SNV	GPR148,missense_variant,p.Ala31Thr,ENST00000309926,;	173	85	106	SUCCESS
PXDN	7837	.	GRCh37	2	1667507	1667507	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	20	0	ENST00000252804.4:c.1437C>A	p.His479Gln	p.H479Q	ENST00000252804	NM_012293.1	479	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS46221.1	1437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTGCCG	NONE	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000252804	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	tolerated(0.07)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.His479Gln,ENST00000252804,;PXDN,missense_variant,p.His475Gln,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,downstream_gene_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;	1488	20	48	SUCCESS
ALPP	250	.	GRCh37	2	233243546	233243546	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	63	0	ENST00000392027.2:c.34C>T	p.Leu12=	p.L12=	ENST00000392027	NM_001632.3	12	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2490.1	34	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31	.	.	ENSP00000375881	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000392027	Transcript	.	.	ENSG00000163283	439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,synonymous_variant,p.%3D,ENST00000392027,;AC068134.8,downstream_gene_variant,,ENST00000439072,;AC068134.8,downstream_gene_variant,,ENST00000441266,;ALPP,non_coding_transcript_exon_variant,,ENST00000474529,;ALPP,upstream_gene_variant,,ENST00000485563,;	303	63	74	SUCCESS
PLCH1	23007	.	GRCh37	3	155311807	155311807	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	50	101	0	ENST00000340059.7:c.357del	p.Trp119Ter	p.W119*	ENST00000340059	NM_001130960.1	119	tgG/tg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS46939.1	357	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGATCCAGGT	BUFFER|p.R99H|c.296G>A|3	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF51,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000345988	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000340059	Transcript	.	.	ENSG00000114805	29185	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCH1_HUMAN	PLCH1	HGNC	.	.	UPI00001D800E	deletion	PLCH1,frameshift_variant,p.Trp101Ter,ENST00000334686,;PLCH1,frameshift_variant,p.Trp101Ter,ENST00000414191,;PLCH1,frameshift_variant,p.Trp119Ter,ENST00000340059,;PLCH1,frameshift_variant,p.Trp119Ter,ENST00000447496,;PLCH1,frameshift_variant,p.Trp101Ter,ENST00000460012,;PLCH1,frameshift_variant,p.Trp119Ter,ENST00000494598,;	357	101	182	SUCCESS
VEPH1	79674	.	GRCh37	3	156983419	156983419	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	86	0	ENST00000362010.2:c.2161G>T	p.Gly721Ter	p.G721*	ENST00000362010	NM_001167912.1	721	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS3179.1	2161	RADIA|MUTECT|MUSE	.	TTTTCCTTCTA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000354919	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,stop_gained,p.Gly721Ter,ENST00000362010,;VEPH1,stop_gained,p.Gly676Ter,ENST00000392833,;VEPH1,stop_gained,p.Gly721Ter,ENST00000392832,;VEPH1,stop_gained,p.Gly676Ter,ENST00000543418,;RP11-550I24.2,intron_variant,,ENST00000475102,;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,intron_variant,,ENST00000488040,;	2469	86	126	SUCCESS
ATP11B	23200	.	GRCh37	3	182597383	182597383	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	135	256	0	ENST00000323116.5:c.2352C>T	p.Cys784=	p.C784=	ENST00000323116	NM_014616.2	784	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS33896.1	2352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGCAGAAA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494	.	.	ENSP00000321195	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000323116	Transcript	.	.	ENSG00000058063	13553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT11B_HUMAN	ATP11B	HGNC	B4E3T1_HUMAN	.	UPI000004124E	SNV	ATP11B,synonymous_variant,p.%3D,ENST00000323116,;ATP11B,synonymous_variant,p.%3D,ENST00000482070,;ATP11B,synonymous_variant,p.%3D,ENST00000498086,;ATP11B,synonymous_variant,p.%3D,ENST00000466758,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;	2612	257	328	SUCCESS
MUC4	4585	.	GRCh37	3	195512169	195512169	+	synonymous_variant	Silent	SNP	G	G	T	rs762131189	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	297	31	319	0	ENST00000463781.3:c.6282C>A	p.Ala2094=	p.A2094=	ENST00000463781	NM_018406.6	2094	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54700.1	6282	RADIA|MUTECT|MUSE	.	GAGGTGGCGTG	NONE	byFrequency	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	rs762131189	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	6742	319	328	SUCCESS
ACOX2	8309	.	GRCh37	3	58510285	58510285	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1317973851	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	64	0	ENST00000302819.5:c.1394C>T	p.Thr465Met	p.T465M	ENST00000302819	NM_003500.3	465	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS33775.1	1394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGTGGAG	NONE	.	.	hmmpanther:PTHR10909:SF266,hmmpanther:PTHR10909,PIRSF_domain:PIRSF000168	.	.	ENSP00000307697	.	11/15	.	.	.	.	.	.	.	.	COSM2782780	11/15	PASS	ENST00000302819	Transcript	.	.	ENSG00000168306	120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.186)	.	tolerated(0.15)	1	ACOX2_HUMAN	ACOX2	HGNC	C9JY29_HUMAN,B4DPM1_HUMAN	.	UPI000000DC36	SNV	ACOX2,missense_variant,p.Thr451Met,ENST00000459701,;ACOX2,missense_variant,p.Thr465Met,ENST00000302819,;ACOX2,upstream_gene_variant,,ENST00000481527,;ACOX2,3_prime_UTR_variant,,ENST00000489472,;ACOX2,non_coding_transcript_exon_variant,,ENST00000467738,;ACOX2,downstream_gene_variant,,ENST00000459888,;	1686	64	73	SUCCESS
TLL1	7092	.	GRCh37	4	166986934	166986934	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	73	159	0	ENST00000061240.2:c.2107T>C	p.Ser703Pro	p.S703P	ENST00000061240	NM_012464.4	703	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3811.1	2107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACATCCCAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Ser703Pro,ENST00000061240,;TLL1,missense_variant,p.Ser726Pro,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2754	159	91	SUCCESS
KIT	3815	.	GRCh37	4	55602719	55602719	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752695117	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	42	109	0	ENST00000288135.5:c.2540C>T	p.Thr847Met	p.T847M	ENST00000288135	NM_000222.2	847	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS3496.1	2540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACGTTTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112	.	.	ENSP00000288135	.	18/21	.	.	.	.	.	.	.	.	rs752695117,COSM1212555	18/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.99)	.	deleterious(0)	0,1	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Thr843Met,ENST00000412167,;KIT,missense_variant,p.Thr847Met,ENST00000288135,;KIT,downstream_gene_variant,,ENST00000512959,;	2637	109	59	SUCCESS
AFF1	4299	.	GRCh37	4	88035865	88035865	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs972189811	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	113	199	0	ENST00000307808.6:c.1859G>T	p.Ser620Ile	p.S620I	ENST00000307808	NM_005935.2	620	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS54775.1	1880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGCCTGC	NONE	.	.	hmmpanther:PTHR10528:SF14,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000378578	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000395146	Transcript	1	.	ENSG00000172493	7135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	AFF1_HUMAN	AFF1	HGNC	Q712L1_HUMAN,F5GXF9_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN	.	UPI000013EC52	SNV	AFF1,missense_variant,p.Ser620Ile,ENST00000307808,;AFF1,missense_variant,p.Ser627Ile,ENST00000395146,;AFF1,missense_variant,p.Ser258Ile,ENST00000544085,;AFF1,upstream_gene_variant,,ENST00000503369,;	2155	199	148	SUCCESS
GALNT10	55568	.	GRCh37	5	153709146	153709146	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762822794	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	65	0	ENST00000297107.6:c.416G>A	p.Arg139His	p.R139H	ENST00000297107	NM_198321.3	139	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4325.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCGCTACC	SITE|p.R139H|c.416G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF41,Superfamily_domains:SSF53448	.	.	ENSP00000297107	.	4/12	.	.	.	.	.	.	.	.	rs762822794,COSM269222,COSM3661635	4/12	PASS	ENST00000297107	Transcript	.	.	ENSG00000164574	19873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.11)	.	tolerated(0.14)	0,1,1	GLT10_HUMAN	GALNT10	HGNC	Q4G0E1_HUMAN,D3DQI7_HUMAN	.	UPI0000041292	SNV	GALNT10,missense_variant,p.Arg139His,ENST00000377661,;GALNT10,missense_variant,p.Arg139His,ENST00000425427,;GALNT10,missense_variant,p.Arg139His,ENST00000297107,;SAP30L-AS1,intron_variant,,ENST00000519727,;GALNT10,non_coding_transcript_exon_variant,,ENST00000521781,;GALNT10,non_coding_transcript_exon_variant,,ENST00000519571,;GALNT10,missense_variant,p.Arg139His,ENST00000520647,;	553	65	82	SUCCESS
ZFR	51663	.	GRCh37	5	32417841	32417841	+	synonymous_variant	Silent	SNP	T	T	C	rs765409303	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	62	0	ENST00000265069.8:c.477A>G	p.Gln159=	p.Q159=	ENST00000265069	NM_016107.3	159	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS34139.1	477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTATTGCTT	NONE	.	.	hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87,Low_complexity_(Seg):seg	.	.	ENSP00000265069	.	4/20	.	.	.	.	.	.	.	.	rs765409303	4/20	PASS	ENST00000265069	Transcript	1	.	ENSG00000056097	17277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFR_HUMAN	ZFR	HGNC	B3KP82_HUMAN	.	UPI00001BBB38	SNV	ZFR,synonymous_variant,p.%3D,ENST00000265069,;ZFR,non_coding_transcript_exon_variant,,ENST00000505366,;ZFR,downstream_gene_variant,,ENST00000505204,;	580	62	61	SUCCESS
KIAA0947	0	.	GRCh37	5	5462390	5462390	+	synonymous_variant	Silent	SNP	G	G	A	rs777719226	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	49	99	0	ENST00000296564.7:c.2943G>A	p.Gly981=	p.G981=	ENST00000296564	NM_015325.2	981	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS47187.1	2943	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGCAGAA	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	rs777719226	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,synonymous_variant,p.%3D,ENST00000296564,;	3165	99	99	SUCCESS
OCLN	100506658	.	GRCh37	5	68849479	68849479	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775502641	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	562	336	914	0	ENST00000355237.2:c.1550A>G	p.Tyr517Cys	p.Y517C	ENST00000355237	NM_002538.3	517	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4006.1	1550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTATGATA	NONE	.	.	hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,Pfam_domain:PF07303,PIRSF_domain:PIRSF005993,Superfamily_domains:0053542	.	.	ENSP00000347379	.	9/9	.	.	.	.	.	.	.	.	rs775502641	9/9	PASS	ENST00000355237	Transcript	1	.	ENSG00000197822	8104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OCLN_HUMAN	OCLN	HGNC	.	.	UPI00000341F0	SNV	OCLN,missense_variant,p.Tyr517Cys,ENST00000396442,;OCLN,missense_variant,p.Tyr517Cys,ENST00000355237,;OCLN,missense_variant,p.Tyr463Cys,ENST00000380766,;OCLN,missense_variant,p.Tyr195Cys,ENST00000542132,;OCLN,missense_variant,p.Tyr266Cys,ENST00000538151,;OCLN,non_coding_transcript_exon_variant,,ENST00000514370,;OCLN,non_coding_transcript_exon_variant,,ENST00000510666,;GUSBP3,intron_variant,,ENST00000380759,;	1986	914	898	SUCCESS
PAPD4	0	.	GRCh37	5	78938692	78938692	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	86	0	ENST00000453514.1:c.710A>G	p.His237Arg	p.H237R	ENST00000453514	NM_001114394.1	237	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4048.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCATATAC	NONE	.	.	hmmpanther:PTHR12271,Gene3D:3.30.460.10,Superfamily_domains:SSF81301	.	.	ENSP00000397563	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000453514	Transcript	.	.	ENSG00000164329	26776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.3)	.	GLD2_HUMAN	PAPD4	HGNC	.	.	UPI000013E386	SNV	PAPD4,missense_variant,p.His237Arg,ENST00000453514,;PAPD4,missense_variant,p.His237Arg,ENST00000504233,;PAPD4,missense_variant,p.His237Arg,ENST00000296783,;PAPD4,missense_variant,p.His237Arg,ENST00000428308,;PAPD4,missense_variant,p.His233Arg,ENST00000423041,;PAPD4,upstream_gene_variant,,ENST00000509227,;	1403	86	80	SUCCESS
CMYA5	202333	.	GRCh37	5	79031059	79031059	+	synonymous_variant	Silent	SNP	A	A	G	rs777655259	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	112	247	0	ENST00000446378.2:c.6471A>G	p.Thr2157=	p.T2157=	ENST00000446378	NM_153610.3	2157	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS47238.1	6471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACACAACC	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	rs777655259	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,synonymous_variant,p.%3D,ENST00000446378,;CMYA5,upstream_gene_variant,,ENST00000506603,;	6502	247	286	SUCCESS
RASA1	5921	.	GRCh37	5	86659193	86659193	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	81	0	ENST00000274376.6:c.1482T>G	p.Tyr494Ter	p.Y494*	ENST00000274376	NM_002890.2	494	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS34200.1	1482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATATTTTAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10194,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000274376	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,stop_gained,p.Tyr327Ter,ENST00000512763,;RASA1,stop_gained,p.Tyr317Ter,ENST00000456692,;RASA1,stop_gained,p.Tyr494Ter,ENST00000274376,;RASA1,stop_gained,p.Tyr328Ter,ENST00000506290,;RASA1,stop_gained,p.Tyr494Ter,ENST00000515800,;RASA1,non_coding_transcript_exon_variant,,ENST00000509953,;	2046	81	94	SUCCESS
TRIP13	9319	.	GRCh37	5	908114	908114	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	86	0	ENST00000166345.3:c.684G>A	p.Leu228=	p.L228=	ENST00000166345	NM_004237.3	228	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3858.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGGTAAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077	.	.	ENSP00000166345	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000166345	Transcript	.	.	ENSG00000071539	12307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCH2_HUMAN	TRIP13	HGNC	.	.	UPI0000048D6C	SNV	TRIP13,synonymous_variant,p.%3D,ENST00000166345,;TRIP13,synonymous_variant,p.%3D,ENST00000513435,;TRIP13,non_coding_transcript_exon_variant,,ENST00000512024,;	1040	86	136	SUCCESS
SLC17A2	10246	.	GRCh37	6	25921499	25921499	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	77	132	0	ENST00000265425.3:c.382A>C	p.Ile128Leu	p.I128L	ENST00000265425		128	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4567.1	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATCAGCA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11662:SF193,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	.	.	ENSP00000353677	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000360488	Transcript	.	.	ENSG00000112337	10930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	NPT3_HUMAN	SLC17A2	HGNC	.	.	UPI0000000DB7	SNV	SLC17A2,missense_variant,p.Ile128Leu,ENST00000377850,;SLC17A2,missense_variant,p.Ile128Leu,ENST00000265425,;SLC17A2,missense_variant,p.Ile128Leu,ENST00000360488,;	800	133	182	SUCCESS
RGL2	5863	.	GRCh37	6	33266246	33266246	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	177	394	0	ENST00000497454.1:c.142G>A	p.Glu48Lys	p.E48K	ENST00000497454	NM_004761.4	48	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4774.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF159	.	.	ENSP00000420211	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000497454	Transcript	.	.	ENSG00000237441	9769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated_low_confidence(0.07)	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,missense_variant,p.Glu48Lys,ENST00000497454,;RGL2,missense_variant,p.Glu48Lys,ENST00000425946,;RGL2,intron_variant,,ENST00000444031,;TAPBP,downstream_gene_variant,,ENST00000489157,;TAPBP,downstream_gene_variant,,ENST00000475304,;TAPBP,downstream_gene_variant,,ENST00000434618,;PFDN6,downstream_gene_variant,,ENST00000463584,;RGL2,intron_variant,,ENST00000437840,;RGL2,upstream_gene_variant,,ENST00000471319,;RGL2,upstream_gene_variant,,ENST00000491168,;RGL2,upstream_gene_variant,,ENST00000485077,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;RGL2,upstream_gene_variant,,ENST00000478610,;RGL2,upstream_gene_variant,,ENST00000460988,;RGL2,upstream_gene_variant,,ENST00000494550,;RGL2,upstream_gene_variant,,ENST00000476616,;	638	394	383	SUCCESS
CDYL	9425	.	GRCh37	6	4892318	4892318	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	63	117	0	ENST00000328908.5:c.558C>A	p.Asn186Lys	p.N186K	ENST00000328908		186	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS4491.2	396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAACATGGA	NONE	.	.	.	.	.	ENSP00000380718	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,missense_variant,p.Asn132Lys,ENST00000397588,;CDYL,missense_variant,p.Asn186Lys,ENST00000328908,;CDYL,5_prime_UTR_variant,,ENST00000449732,;CDYL,5_prime_UTR_variant,,ENST00000343762,;CDYL,intron_variant,,ENST00000440139,;CDYL,non_coding_transcript_exon_variant,,ENST00000483019,;CDYL,non_coding_transcript_exon_variant,,ENST00000491864,;CDYL,intron_variant,,ENST00000472453,;	745	117	146	SUCCESS
DOCK4	9732	.	GRCh37	7	111555875	111555875	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	101	0	ENST00000437633.1:c.1151C>A	p.Ser384Tyr	p.S384Y	ENST00000437633	NM_014705.3	384	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS47688.1	1151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGGATACT	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75	.	.	ENSP00000404179	.	13/52	.	.	.	.	.	.	.	.	COSM744120,COSM1150555	13/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.439)	.	deleterious(0)	1,1	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,missense_variant,p.Ser372Tyr,ENST00000445943,;DOCK4,missense_variant,p.Ser384Tyr,ENST00000428084,;DOCK4,missense_variant,p.Ser384Tyr,ENST00000437633,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;	1408	101	112	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117431229	117431229	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	78	132	0	ENST00000160373.3:c.2021C>T	p.Ser674Leu	p.S674L	ENST00000160373	NM_033427.2	674	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS5774.1	2021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGAGGCA	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	deleterious(0)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Ser674Leu,ENST00000160373,;CTTNBP2,intron_variant,,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,intron_variant,,ENST00000441556,;	2113	132	183	SUCCESS
KLHL7	55975	.	GRCh37	7	23212604	23212604	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	80	190	0	ENST00000339077.5:c.1417A>C	p.Asn473His	p.N473H	ENST00000339077	NM_001031710.2	473	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS34609.1	1417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAATCAT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF151,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000343273	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000339077	Transcript	.	.	ENSG00000122550	15646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.431)	.	tolerated(0.58)	.	KLHL7_HUMAN	KLHL7	HGNC	E5RFN1_HUMAN,B7Z4N7_HUMAN,B7Z3P9_HUMAN	.	UPI0000037B12	SNV	KLHL7,missense_variant,p.Asn425His,ENST00000409689,;KLHL7,missense_variant,p.Asn397His,ENST00000539124,;KLHL7,missense_variant,p.Asn473His,ENST00000339077,;KLHL7,missense_variant,p.Asn451His,ENST00000322231,;KLHL7,missense_variant,p.Asn451His,ENST00000545443,;KLHL7,missense_variant,p.Asn248His,ENST00000542558,;AC005082.1,intron_variant,,ENST00000366347,;KLHL7,3_prime_UTR_variant,,ENST00000521082,;KLHL7,non_coding_transcript_exon_variant,,ENST00000469845,;KLHL7,downstream_gene_variant,,ENST00000469576,;	1660	190	191	SUCCESS
RFC2	5982	.	GRCh37	7	73654297	73654297	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	111	0	ENST00000055077.3:c.664A>G	p.Ile222Val	p.I222V	ENST00000055077	NM_001278792.1	222	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5568.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGATGG	NONE	.	.	hmmpanther:PTHR11669:SF5,hmmpanther:PTHR11669,Gene3D:1.10.8.60,Superfamily_domains:SSF52540	.	.	ENSP00000055077	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000055077	Transcript	.	.	ENSG00000049541	9970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.56)	.	RFC2_HUMAN	RFC2	HGNC	F8WDC9_HUMAN	.	UPI000012516A	SNV	RFC2,missense_variant,p.Ile222Val,ENST00000055077,;RFC2,missense_variant,p.Ile188Val,ENST00000352131,;RFC2,missense_variant,p.Ile15Val,ENST00000485545,;RFC2,missense_variant,p.Ile78Val,ENST00000497430,;RFC2,3_prime_UTR_variant,,ENST00000479105,;RFC2,3_prime_UTR_variant,,ENST00000491206,;RFC2,3_prime_UTR_variant,,ENST00000470266,;RFC2,3_prime_UTR_variant,,ENST00000463194,;RFC2,3_prime_UTR_variant,,ENST00000480432,;RFC2,3_prime_UTR_variant,,ENST00000493156,;RFC2,3_prime_UTR_variant,,ENST00000494019,;	725	111	98	SUCCESS
CACNA2D1	781	.	GRCh37	7	81642821	81642821	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	397	295	595	0	ENST00000356253.5:c.1228T>C	p.Tyr410His	p.Y410H	ENST00000356253		410	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS5598.1	1228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATAATAAC	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,PROSITE_profiles:PS50234	.	.	ENSP00000349320	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Tyr410His,ENST00000356253,;CACNA2D1,missense_variant,p.Tyr410His,ENST00000356860,;MIR1255B1,intron_variant,,ENST00000454066,;MIR1255B1,intron_variant,,ENST00000439234,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000464354,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000475237,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;CACNA2D1,upstream_gene_variant,,ENST00000466806,;	1567	595	692	SUCCESS
PCLO	27445	.	GRCh37	7	82784467	82784467	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1270435100	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	22	0	ENST00000333891.9:c.1490C>T	p.Ala497Val	p.A497V	ENST00000333891	NM_033026.5	497	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47630.1	1490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTGCTGAG	BUFFER|p.S496P|c.1486T>C|9,BUFFER|p.S496P|c.1486T>C|9,BUFFER|p.?|c.1328-4T>C|9	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ala497Val,ENST00000333891,;PCLO,missense_variant,p.Ala497Val,ENST00000423517,;	1828	22	25	SUCCESS
ZHX2	22882	.	GRCh37	8	123964558	123964558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	43	93	0	ENST00000314393.4:c.808G>A	p.Ala270Thr	p.A270T	ENST00000314393	NM_014943.3	270	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6336.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGCCCTG	NONE	.	.	hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5,SMART_domains:SM00389	.	.	ENSP00000314709	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314393	Transcript	.	.	ENSG00000178764	18513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.15)	.	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,missense_variant,p.Ala270Thr,ENST00000314393,;ZHX2,downstream_gene_variant,,ENST00000534247,;	1643	93	179	SUCCESS
KIAA1456	0	.	GRCh37	8	12878587	12878587	+	synonymous_variant	Silent	SNP	C	C	A	rs148748822	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	74	170	1	ENST00000524591.2:c.399C>A	p.Pro133=	p.P133=	ENST00000524591	NM_020844.2	133	ccC/ccA	0	T:0.0003	T:0.0008	.	T:0	.	A	P	protein_coding	YES	CCDS47808.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCGGAGG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF53335,Pfam_domain:PF08241,Gene3D:3.40.50.150,hmmpanther:PTHR13069,hmmpanther:PTHR13069:SF25	T:0	T:0.0001	ENSP00000432695	T:0	5/5	.	.	.	.	.	.	.	.	rs148748822	5/5	PASS	ENST00000524591	Transcript	.	T:0.0002	ENSG00000250305	26725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,synonymous_variant,p.%3D,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,non_coding_transcript_exon_variant,,ENST00000529706,;KIAA1456,non_coding_transcript_exon_variant,,ENST00000529978,;	888	172	101	SUCCESS
GPR124	0	.	GRCh37	8	37699537	37699537	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	16	11	0	ENST00000412232.2:c.3681C>T	p.Thr1227=	p.T1227=	ENST00000412232	NM_032777.9	1227	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6097.2	3681	RADIA|MUTECT|MUSE	.	CCCACCGACAG	NONE	.	.	.	.	.	ENSP00000406367	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,synonymous_variant,p.%3D,ENST00000412232,;GPR124,synonymous_variant,p.%3D,ENST00000315215,;BRF2,downstream_gene_variant,,ENST00000521170,;BRF2,downstream_gene_variant,,ENST00000220659,;BRF2,downstream_gene_variant,,ENST00000520601,;	3694	11	18	SUCCESS
RP1	6101	.	GRCh37	8	55539339	55539339	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs200109948	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	76	176	1	ENST00000220676.1:c.2897A>C	p.Asn966Thr	p.N966T	ENST00000220676	NM_006269.1	966	aAt/aCt	0	.	G:0.0015	.	G:0	.	C	N/T	protein_coding	YES	CCDS6160.1	2897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAATTTTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	G:0	.	ENSP00000220676	G:0	4/4	.	.	.	.	.	.	.	.	rs200109948	4/4	PASS	ENST00000220676	Transcript	1	G:0.0004	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	G:0	tolerated(0.07)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Asn966Thr,ENST00000220676,;	3045	177	251	SUCCESS
CPQ	10404	.	GRCh37	8	97797377	97797377	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	204	93	181	0	ENST00000220763.5:c.252A>G	p.Leu84=	p.L84=	ENST00000220763	NM_016134.3	84	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS6273.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTAGAAAA	NONE	.	.	Gene3D:3.40.630.10,hmmpanther:PTHR12053	.	.	ENSP00000220763	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000220763	Transcript	.	.	ENSG00000104324	16910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPQ_HUMAN	CPQ	HGNC	E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN	.	UPI00000706B8	SNV	CPQ,synonymous_variant,p.%3D,ENST00000519900,;CPQ,synonymous_variant,p.%3D,ENST00000517742,;CPQ,synonymous_variant,p.%3D,ENST00000521142,;CPQ,synonymous_variant,p.%3D,ENST00000519484,;CPQ,synonymous_variant,p.%3D,ENST00000220763,;CPQ,non_coding_transcript_exon_variant,,ENST00000525310,;	462	181	297	SUCCESS
EPB41L4B	54566	.	GRCh37	9	111962537	111962537	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	64	107	0	ENST00000374566.3:c.2024A>T	p.Lys675Met	p.K675M	ENST00000374566	NM_019114.3	675	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS43859.1	2024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACTTCCTC	NONE	.	.	hmmpanther:PTHR23280:SF18,hmmpanther:PTHR23280	.	.	ENSP00000363694	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000374566	Transcript	.	.	ENSG00000095203	19818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	deleterious_low_confidence(0)	.	E41LB_HUMAN	EPB41L4B	HGNC	.	.	UPI0000458994	SNV	EPB41L4B,missense_variant,p.Lys675Met,ENST00000374566,;RNU6-984P,upstream_gene_variant,,ENST00000363236,;	2542	107	78	SUCCESS
TRPM6	140803	.	GRCh37	9	77454953	77454953	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	46	91	0	ENST00000360774.1:c.531A>C	p.Glu177Asp	p.E177D	ENST00000360774	NM_017662.4	177	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS6647.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTTCAGT	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	5/39	.	.	.	.	.	.	.	.	.	5/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	tolerated(0.36)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Glu172Asp,ENST00000449912,;TRPM6,missense_variant,p.Glu177Asp,ENST00000376871,;TRPM6,missense_variant,p.Glu177Asp,ENST00000359047,;TRPM6,missense_variant,p.Glu177Asp,ENST00000376872,;TRPM6,missense_variant,p.Glu177Asp,ENST00000451710,;TRPM6,missense_variant,p.Glu172Asp,ENST00000361255,;TRPM6,missense_variant,p.Glu177Asp,ENST00000360774,;TRPM6,missense_variant,p.Glu177Asp,ENST00000376864,;	769	91	64	SUCCESS
GPR112	0	.	GRCh37	X	135428111	135428111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	216	220	0	ENST00000370652.1:c.2246C>A	p.Thr749Asn	p.T749N	ENST00000370652		749	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS35409.1	2246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAACCAATA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	tolerated(0.06)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Thr686Asn,ENST00000287534,;GPR112,missense_variant,p.Thr749Asn,ENST00000370652,;GPR112,missense_variant,p.Thr749Asn,ENST00000394143,;GPR112,missense_variant,p.Thr544Asn,ENST00000394141,;GPR112,missense_variant,p.Thr544Asn,ENST00000412101,;	2537	220	236	SUCCESS
SPANXN1	494118	.	GRCh37	X	144337223	144337223	+	synonymous_variant	Silent	SNP	C	C	A	rs782331742	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	211	195	1	ENST00000370493.3:c.108C>A	p.Pro36=	p.P36=	ENST00000370493	NM_001009614.2	36	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35421.1	108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCGAACC	NONE	byFrequency	.	hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF7,Pfam_domain:PF07458	.	.	ENSP00000359524	.	2/2	.	.	.	.	.	.	.	.	rs782331742,COSM3973349,COSM3973348	2/2	PASS	ENST00000370493	Transcript	.	.	ENSG00000203923	33174	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	SPXN1_HUMAN	SPANXN1	HGNC	.	.	UPI0000458AF7	SNV	SPANXN1,synonymous_variant,p.%3D,ENST00000370493,;	867	197	247	SUCCESS
SLITRK2	84631	.	GRCh37	X	144905309	144905309	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	79	77	0	ENST00000370490.1:c.1366T>A	p.Tyr456Asn	p.Y456N	ENST00000370490		456	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS14680.1	1366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGTATAAT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0.04)	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Tyr456Asn,ENST00000370490,;SLITRK2,missense_variant,p.Tyr456Asn,ENST00000434188,;SLITRK2,missense_variant,p.Tyr456Asn,ENST00000428560,;SLITRK2,missense_variant,p.Tyr456Asn,ENST00000413937,;SLITRK2,missense_variant,p.Tyr456Asn,ENST00000447897,;SLITRK2,missense_variant,p.Tyr456Asn,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	5621	77	90	SUCCESS
IQSEC2	23096	.	GRCh37	X	53263732	53263732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	45	64	0	ENST00000396435.3:c.4136C>T	p.Pro1379Leu	p.P1379L	ENST00000396435	NM_001111125.2	1379	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS48130.1	4136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGGAGGG	NONE	.	.	.	.	.	ENSP00000379712	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated_low_confidence(0.24)	.	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,missense_variant,p.Pro1369Leu,ENST00000375368,;IQSEC2,missense_variant,p.Pro1379Leu,ENST00000396435,;IQSEC2,3_prime_UTR_variant,,ENST00000375365,;	4337	64	57	SUCCESS
AWAT2	158835	.	GRCh37	X	69264286	69264286	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	190	211	0	ENST00000276101.3:c.112del	p.Tyr38ThrfsTer36	p.Y38Tfs*36	ENST00000276101	NM_001002254.1	38	Tac/ac	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS35320.1	112	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGTAGAGGT	NONE	.	.	hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF12	.	.	ENSP00000421172	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000276101	Transcript	.	.	ENSG00000147160	23251	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AWAT2_HUMAN	AWAT2	HGNC	.	.	UPI00001D7BE0	deletion	AWAT2,frameshift_variant,p.Tyr38ThrfsTer36,ENST00000276101,;EDA,downstream_gene_variant,,ENST00000374553,;EDA,downstream_gene_variant,,ENST00000374552,;AWAT2,upstream_gene_variant,,ENST00000443056,;AWAT2,upstream_gene_variant,,ENST00000440401,;	118	211	428	SUCCESS
P2RY10	27334	.	GRCh37	X	78216621	78216621	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	54	46	0	ENST00000171757.2:c.604G>T	p.Ala202Ser	p.A202S	ENST00000171757	NM_014499.2	202	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14442.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGCTGAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF6,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000171757	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000171757	Transcript	.	.	ENSG00000078589	19906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	tolerated(0.06)	.	P2Y10_HUMAN	P2RY10	HGNC	.	.	UPI0000050471	SNV	P2RY10,missense_variant,p.Ala202Ser,ENST00000544091,;P2RY10,missense_variant,p.Ala202Ser,ENST00000171757,;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	884	46	62	SUCCESS
DOCK1	1793	.	GRCh37	10	129179616	129179616	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1403147569	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	42	0	ENST00000280333.6:c.3728A>G	p.His1243Arg	p.H1243R	ENST00000280333	NM_001380.3	1243	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	.	3728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCATGCAA	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371	.	.	ENSP00000280333	.	37/52	.	.	.	.	.	.	.	.	.	37/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	deleterious(0)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.His1243Arg,ENST00000280333,;	3837	42	62	SUCCESS
ARMC4	0	.	GRCh37	10	28276331	28276331	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	62	0	ENST00000305242.5:c.366C>A	p.Ala122=	p.A122=	ENST00000305242	NM_018076.2	122	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7157.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGGCTTC	NONE	.	.	hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315	.	.	ENSP00000306410	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000305242	Transcript	1	.	ENSG00000169126	25583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMC4_HUMAN	ARMC4	HGNC	R4GN11_HUMAN,A8K906_HUMAN	.	UPI00001A95E1	SNV	ARMC4,synonymous_variant,p.%3D,ENST00000305242,;ARMC4,synonymous_variant,p.%3D,ENST00000434029,;ARMC4,5_prime_UTR_variant,,ENST00000239715,;ARMC4,upstream_gene_variant,,ENST00000537576,;	459	62	88	SUCCESS
ANK3	288	.	GRCh37	10	61831548	61831548	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	38	0	ENST00000280772.2:c.9091T>C	p.Tyr3031His	p.Y3031H	ENST00000280772	NM_020987.3	3031	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS7258.1	9091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATAACTCT	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Tyr3031His,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	9283	38	68	SUCCESS
CPEB3	22849	.	GRCh37	10	93999597	93999597	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	33	0	ENST00000265997.4:c.511C>T	p.Pro171Ser	p.P171S	ENST00000265997	NM_014912.4	171	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31246.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGGCGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12566,hmmpanther:PTHR12566:SF7	.	.	ENSP00000265997	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000265997	Transcript	.	.	ENSG00000107864	21746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	tolerated_low_confidence(0.2)	.	CPEB3_HUMAN	CPEB3	HGNC	.	.	UPI000013F7DE	SNV	CPEB3,missense_variant,p.Pro171Ser,ENST00000265997,;CPEB3,missense_variant,p.Pro171Ser,ENST00000412050,;	684	33	33	SUCCESS
PIPSL	266971	.	GRCh37	10	95719207	95719207	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	61	126	0	ENST00000480546.1:n.2091T>C		p.*697*	ENST00000480546				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCATCTTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000480546	Transcript	.	.	ENSG00000180764	23733	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PIPSL	HGNC	.	.	.	SNV	PIPSL,non_coding_transcript_exon_variant,,ENST00000480546,;SLC35G1,downstream_gene_variant,,ENST00000494992,;PIPSL,non_coding_transcript_exon_variant,,ENST00000489875,;PIPSL,downstream_gene_variant,,ENST00000540371,;	2091	126	146	SUCCESS
KIAA1377	0	.	GRCh37	11	101834056	101834056	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs138416296	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	6	98	0	ENST00000263468.8:c.2290A>G	p.Lys764Glu	p.K764E	ENST00000263468	NM_020802.2	764	Aaa/Gaa	0	G:0	.	.	.	.	G	K/E	protein_coding	YES	CCDS31658.1	2290	MUTECT|MUSE	.	CTGCAAAAGTC	NONE	byCluster	.	Pfam_domain:PF15352,hmmpanther:PTHR31191	.	G:0.0001	ENSP00000263468	.	6/11	.	.	.	.	.	.	.	.	rs138416296	6/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.641)	.	deleterious(0.01)	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,missense_variant,p.Lys565Glu,ENST00000537689,;KIAA1377,missense_variant,p.Lys764Glu,ENST00000263468,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	2560	98	135	SUCCESS
MMP10	4319	.	GRCh37	11	102641594	102641594	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	84	0	ENST00000279441.4:c.1361A>T	p.Gln454Leu	p.Q454L	ENST00000279441	NM_002425.2	454	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8321.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGTGAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF126,hmmpanther:PTHR10201,Pfam_domain:PF00045,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,SMART_domains:SM00120,Superfamily_domains:SSF50923	.	.	ENSP00000279441	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279441	Transcript	.	.	ENSG00000166670	7156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	MMP10_HUMAN	MMP10	HGNC	.	.	UPI00000422C0	SNV	MMP10,missense_variant,p.Gln454Leu,ENST00000279441,;WTAPP1,intron_variant,,ENST00000371455,;AP000647.3,upstream_gene_variant,,ENST00000535634,;	1398	84	106	SUCCESS
MMP10	4319	.	GRCh37	11	102650306	102650306	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	51	74	0	ENST00000279441.4:c.276A>C	p.Gly92=	p.G92=	ENST00000279441	NM_002425.2	92	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS8321.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACTCCACA	NONE	.	.	hmmpanther:PTHR10201:SF126,hmmpanther:PTHR10201,PROSITE_patterns:PS00546,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090,Prints_domain:PR00138	.	.	ENSP00000279441	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000279441	Transcript	.	.	ENSG00000166670	7156	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP10_HUMAN	MMP10	HGNC	.	.	UPI00000422C0	SNV	MMP10,synonymous_variant,p.%3D,ENST00000539681,;MMP10,synonymous_variant,p.%3D,ENST00000279441,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,;	313	74	124	SUCCESS
MUC2	4583	.	GRCh37	11	1084794	1084794	+	synonymous_variant	Silent	SNP	C	C	T	rs559546110	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	57	0	ENST00000441003.2:c.2589C>T	p.Tyr863=	p.Y863=	ENST00000441003	NM_002457.2	863	taC/taT	0	.	T:0	.	T:0.0014	.	T	Y	protein_coding	YES	.	2589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACGGGAG	NONE	by1000G	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00214,SMART_domains:SM00216,SMART_domains:SM00215	T:0	.	ENSP00000415183	T:0	20/49	.	.	.	.	.	.	.	.	rs559546110	20/49	PASS	ENST00000441003	Transcript	.	T:0.0002	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,synonymous_variant,p.%3D,ENST00000359061,;	2616	57	101	SUCCESS
MUC2	4583	.	GRCh37	11	1091476	1091476	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	220	13	170	0	ENST00000441003.2:c.3885A>C	p.Leu1295Phe	p.L1295F	ENST00000441003	NM_002457.2	1295	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	.	3885	MUTECT|MUSE	.	GTTTTATCAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	29/49	.	.	.	.	.	.	.	.	.	29/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Leu1295Phe,ENST00000441003,;MUC2,missense_variant,p.Leu1296Phe,ENST00000359061,;MUC2,upstream_gene_variant,,ENST00000361558,;MUC2,upstream_gene_variant,,ENST00000333592,;	3912	170	233	SUCCESS
TECTA	7007	.	GRCh37	11	121016728	121016728	+	synonymous_variant	Silent	SNP	C	C	A	rs762931060	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	800	533	941	1	ENST00000264037.2:c.4008C>A	p.Gly1336=	p.G1336=	ENST00000264037	NM_005422.2	1336	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8434.1	4008	RADIA|SOMATICSNIPER|VARSCANS	.	GGGGGCGCGGT	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339	.	.	ENSP00000376543	.	12/24	.	.	.	.	.	.	.	.	rs762931060,COSM4018673	12/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,synonymous_variant,p.%3D,ENST00000264037,;TECTA,synonymous_variant,p.%3D,ENST00000392793,;TECTA,non_coding_transcript_exon_variant,,ENST00000478058,;	4279	943	1333	SUCCESS
CRTAM	56253	.	GRCh37	11	122742078	122742078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	62	114	1	ENST00000227348.4:c.1153C>T	p.His385Tyr	p.H385Y	ENST00000227348	NM_019604.2	385	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS8437.1	1153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCACATC	NONE	.	.	hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF48	.	.	ENSP00000227348	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000227348	Transcript	.	.	ENSG00000109943	24313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	CRTAM_HUMAN	CRTAM	HGNC	.	.	UPI000013C8B4	SNV	CRTAM,missense_variant,p.His385Tyr,ENST00000227348,;CRTAM,missense_variant,p.His186Tyr,ENST00000533709,;CRTAM,non_coding_transcript_exon_variant,,ENST00000533416,;	1200	116	153	SUCCESS
OR4D10	390197	.	GRCh37	11	59245374	59245374	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200781301	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	56	0	ENST00000530162.1:c.472G>A	p.Val158Met	p.V158M	ENST00000530162	NM_001004705.1	158	Gtg/Atg	0	A:0	C:0	.	C:0	.	A	V/M	protein_coding	YES	CCDS53636.1	472	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGTGCAG	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF111,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	C:0	A:0.0001	ENSP00000436424	C:0	1/1	.	.	.	.	.	.	.	.	rs200781301,COSM929042,COSM1152372	1/1	PASS	ENST00000530162	Transcript	.	C:0.0002	ENSG00000254466	15173	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.183)	C:0.001	deleterious(0.02)	0,1,1	OR4DA_HUMAN	OR4D10	HGNC	.	.	UPI0000046485	SNV	OR4D10,missense_variant,p.Val158Met,ENST00000530162,;	529	56	97	SUCCESS
MTA2	9219	.	GRCh37	11	62367685	62367685	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	60	130	0	ENST00000278823.2:c.143G>A	p.Arg48His	p.R48H	ENST00000278823	NM_004739.3	48	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8022.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCGCCGG	NONE	.	.	SMART_domains:SM00439,Pfam_domain:PF01426,hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865,PROSITE_profiles:PS51038	.	.	ENSP00000278823	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000278823	Transcript	.	.	ENSG00000149480	7411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	MTA2_HUMAN	MTA2	HGNC	Q68DB1_HUMAN	.	UPI000012F743	SNV	MTA2,missense_variant,p.Arg48His,ENST00000278823,;MTA2,5_prime_UTR_variant,,ENST00000527204,;EML3,downstream_gene_variant,,ENST00000278845,;MTA2,upstream_gene_variant,,ENST00000524902,;EML3,downstream_gene_variant,,ENST00000494176,;EML3,downstream_gene_variant,,ENST00000394773,;EML3,downstream_gene_variant,,ENST00000529309,;EML3,downstream_gene_variant,,ENST00000394776,;EML3,downstream_gene_variant,,ENST00000439994,;EML3,downstream_gene_variant,,ENST00000531557,;MTA2,non_coding_transcript_exon_variant,,ENST00000532239,;MTA2,non_coding_transcript_exon_variant,,ENST00000526844,;MTA2,upstream_gene_variant,,ENST00000531261,;MTA2,upstream_gene_variant,,ENST00000531179,;EML3,downstream_gene_variant,,ENST00000460939,;EML3,downstream_gene_variant,,ENST00000483199,;EML3,downstream_gene_variant,,ENST00000533165,;EML3,downstream_gene_variant,,ENST00000524518,;EML3,downstream_gene_variant,,ENST00000494448,;	533	130	163	SUCCESS
TM7SF2	7108	.	GRCh37	11	64880095	64880095	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	65	0	ENST00000279263.7:c.161T>A	p.Leu54Gln	p.L54Q	ENST00000279263	NM_003273.3	54	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS41669.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGGAGG	BUFFER|p.P52P|c.156G>C|4	.	.	hmmpanther:PTHR21257	.	.	ENSP00000279263	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000279263	Transcript	.	.	ENSG00000149809	11863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.633)	.	deleterious(0.03)	.	ERG24_HUMAN	TM7SF2	HGNC	F5GYV3_HUMAN,E9PRQ1_HUMAN,E9PLI3_HUMAN	.	UPI000013DBC4	SNV	TM7SF2,missense_variant,p.Leu54Gln,ENST00000530750,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000279263,;TM7SF2,missense_variant,p.Leu25Gln,ENST00000524986,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000345348,;TM7SF2,missense_variant,p.Leu25Gln,ENST00000531321,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000534371,;TM7SF2,missense_variant,p.Leu25Gln,ENST00000525385,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000529414,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000526809,;TM7SF2,5_prime_UTR_variant,,ENST00000540748,;TM7SF2,intron_variant,,ENST00000526085,;ZNHIT2,downstream_gene_variant,,ENST00000310597,;VPS51,downstream_gene_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000527968,;TM7SF2,upstream_gene_variant,,ENST00000528802,;VPS51,downstream_gene_variant,,ENST00000279281,;VPS51,downstream_gene_variant,,ENST00000530773,;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000526578,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000528588,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.9,upstream_gene_variant,,ENST00000528887,;AP003068.12,upstream_gene_variant,,ENST00000527789,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000529601,;TM7SF2,missense_variant,p.Leu54Gln,ENST00000529292,;TM7SF2,missense_variant,p.Leu44Gln,ENST00000524690,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533766,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000528026,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530650,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530892,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000532328,;TM7SF2,upstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;TM7SF2,upstream_gene_variant,,ENST00000527851,;VPS51,downstream_gene_variant,,ENST00000534124,;VPS51,downstream_gene_variant,,ENST00000531146,;VPS51,downstream_gene_variant,,ENST00000533656,;VPS51,downstream_gene_variant,,ENST00000533487,;VPS51,downstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000534667,;	323	65	67	SUCCESS
SHANK2	22941	.	GRCh37	11	70830028	70830028	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	57	0	ENST00000338508.4:c.258G>T	p.Arg86=	p.R86=	ENST00000338508		86	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	.	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCCGCTG	NONE	.	.	hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17	.	.	ENSP00000345193	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000338508	Transcript	.	.	ENSG00000162105	14295	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SHANK2	HGNC	C9JFP8_HUMAN,A6NHU9_HUMAN	.	UPI00020653A9	SNV	SHANK2,synonymous_variant,p.%3D,ENST00000457074,;SHANK2,synonymous_variant,p.%3D,ENST00000338508,;SHANK2,synonymous_variant,p.%3D,ENST00000413503,;	258	57	98	SUCCESS
NR1H4	9971	.	GRCh37	12	100957256	100957256	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1198961142	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	60	0	ENST00000551379.1:c.1450G>A	p.Asp484Asn	p.D484N	ENST00000551379		484	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55876.1	1450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGACGTG	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF155,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000447149	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000551379	Transcript	.	.	ENSG00000012504	7967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.31)	.	NR1H4_HUMAN	NR1H4	HGNC	B7Z423_HUMAN	.	UPI000006E701	SNV	NR1H4,missense_variant,p.Asp474Asn,ENST00000392986,;NR1H4,missense_variant,p.Asp470Asn,ENST00000548884,;NR1H4,missense_variant,p.Asp484Asn,ENST00000551379,;NR1H4,missense_variant,p.Asp423Asn,ENST00000549996,;NR1H4,missense_variant,p.Asp480Asn,ENST00000188403,;NR1H4,3_prime_UTR_variant,,ENST00000321046,;	1478	60	96	SUCCESS
TFCP2	7024	.	GRCh37	12	51566149	51566149	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	39	0	ENST00000257915.5:c.57G>A	p.Val19=	p.V19=	ENST00000257915	NM_005653.4	19	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8808.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCACCAA	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF11	.	.	ENSP00000257915	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000257915	Transcript	.	.	ENSG00000135457	11748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFCP2_HUMAN	TFCP2	HGNC	F8VWL0_HUMAN	.	UPI0000071CCA	SNV	TFCP2,synonymous_variant,p.%3D,ENST00000257915,;TFCP2,synonymous_variant,p.%3D,ENST00000548115,;TFCP2,synonymous_variant,p.%3D,ENST00000307660,;TFCP2,synonymous_variant,p.%3D,ENST00000549867,;TFCP2,intron_variant,,ENST00000548108,;	516	39	68	SUCCESS
KRT6A	3853	.	GRCh37	12	52885452	52885452	+	synonymous_variant	Silent	SNP	G	G	T	rs1366320372	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	52	115	1	ENST00000330722.6:c.609C>A	p.Thr203=	p.T203=	ENST00000330722	NM_005554.3	203	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41786.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTGGTGCC	NONE	.	.	Prints_domain:PR01276,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000369317	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000330722	Transcript	.	.	ENSG00000205420	6443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C6A_HUMAN	KRT6A	HGNC	.	.	UPI000013CD4C	SNV	KRT6A,synonymous_variant,p.%3D,ENST00000330722,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,upstream_gene_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;KRT6A,upstream_gene_variant,,ENST00000549754,;	678	116	132	SUCCESS
HOXC4	3221	.	GRCh37	12	54447994	54447994	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	45	58	0	ENST00000303406.4:c.288G>T	p.Ser96=	p.S96=	ENST00000303406	NM_014620.4	96	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8873.1	288	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCGCTCTG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF146	.	.	ENSP00000399808	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000430889	Transcript	.	.	ENSG00000273266	5126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC4_HUMAN	HOXC4	Uniprot_gn	.	.	UPI000013E89C	SNV	HOXC4,synonymous_variant,p.%3D,ENST00000430889,;HOXC4,synonymous_variant,p.%3D,ENST00000609810,;HOXC4,synonymous_variant,p.%3D,ENST00000303406,;RP11-834C11.3,upstream_gene_variant,,ENST00000515617,;HOXC4,downstream_gene_variant,,ENST00000507650,;	334	58	92	SUCCESS
BIVM	54841	.	GRCh37	13	103486837	103486837	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	52	73	0	ENST00000257336.1:c.1056G>A	p.Gln352=	p.Q352=	ENST00000257336	NM_017693.3	352	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS9505.1	1056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGGAAGT	NONE	.	.	hmmpanther:PTHR16171	.	.	ENSP00000257336	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000257336	Transcript	.	.	ENSG00000134897	16034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIVM_HUMAN	BIVM	HGNC	.	.	UPI000011BE25	SNV	BIVM,missense_variant,p.Arg308Lys,ENST00000419638,;BIVM-ERCC5,synonymous_variant,p.%3D,ENST00000602836,;BIVM,synonymous_variant,p.%3D,ENST00000448849,;BIVM,synonymous_variant,p.%3D,ENST00000257336,;BIVM,non_coding_transcript_exon_variant,,ENST00000490317,;	1735	73	114	SUCCESS
RCBTB2	1102	.	GRCh37	13	49086978	49086978	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1307222049	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	61	0	ENST00000344532.3:c.403A>G	p.Thr135Ala	p.T135A	ENST00000344532	NM_001268.2	135	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9411.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGTCCCAT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF122,Pfam_domain:PF00415,Gene3D:2.130.10.30,Superfamily_domains:SSF50985,Prints_domain:PR00633	.	.	ENSP00000345144	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000344532	Transcript	.	.	ENSG00000136161	1914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	tolerated(0.16)	.	RCBT2_HUMAN	RCBTB2	HGNC	.	.	UPI00000372FA	SNV	RCBTB2,missense_variant,p.Thr140Ala,ENST00000430805,;RCBTB2,missense_variant,p.Thr135Ala,ENST00000344532,;RCBTB2,missense_variant,p.Thr111Ala,ENST00000544904,;RCBTB2,intron_variant,,ENST00000544492,;RCBTB2,non_coding_transcript_exon_variant,,ENST00000481144,;	827	61	52	SUCCESS
EXOC3L4	91828	.	GRCh37	14	103570678	103570678	+	synonymous_variant	Silent	SNP	G	G	A	rs1398353838	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	37	76	0	ENST00000380069.3:c.1236G>A	p.Glu412=	p.E412=	ENST00000380069	NM_001077594.1	412	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS32163.1	1236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAGGTGCT	NONE	.	.	hmmpanther:PTHR21292:SF14,hmmpanther:PTHR21292,Pfam_domain:PF06046	.	.	ENSP00000369409	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000380069	Transcript	.	.	ENSG00000205436	20120	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EX3L4_HUMAN	EXOC3L4	HGNC	.	.	UPI0000425FC1	SNV	EXOC3L4,synonymous_variant,p.%3D,ENST00000380069,;EXOC3L4,downstream_gene_variant,,ENST00000559116,;EXOC3L4,upstream_gene_variant,,ENST00000560304,;EXOC3L4,non_coding_transcript_exon_variant,,ENST00000560925,;EXOC3L4,upstream_gene_variant,,ENST00000559693,;EXOC3L4,upstream_gene_variant,,ENST00000559661,;EXOC3L4,downstream_gene_variant,,ENST00000560102,;	1312	76	53	SUCCESS
CKB	1152	.	GRCh37	14	103988750	103988750	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	28	46	0	ENST00000348956.2:c.81C>T	p.Asn27=	p.N27=	ENST00000348956	NM_001823.4	27	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS9981.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGTTGTG	NONE	.	.	PROSITE_profiles:PS51509,hmmpanther:PTHR11547,Gene3D:1.10.135.10,Pfam_domain:PF02807,Superfamily_domains:SSF48034	.	.	ENSP00000299198	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000348956	Transcript	.	.	ENSG00000166165	1991	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCRB_HUMAN	CKB	HGNC	G3V4N7_HUMAN,G3V461_HUMAN	.	UPI000012DCBA	SNV	CKB,synonymous_variant,p.%3D,ENST00000348956,;CKB,synonymous_variant,p.%3D,ENST00000553878,;CKB,5_prime_UTR_variant,,ENST00000557530,;CKB,upstream_gene_variant,,ENST00000555039,;CKB,upstream_gene_variant,,ENST00000553610,;RP11-600F24.7,downstream_gene_variant,,ENST00000568177,;CKB,non_coding_transcript_exon_variant,,ENST00000554426,;CKB,non_coding_transcript_exon_variant,,ENST00000553994,;CKB,non_coding_transcript_exon_variant,,ENST00000554705,;CKB,non_coding_transcript_exon_variant,,ENST00000555770,;CKB,non_coding_transcript_exon_variant,,ENST00000555659,;CKB,intron_variant,,ENST00000553652,;CKB,upstream_gene_variant,,ENST00000554282,;CKB,upstream_gene_variant,,ENST00000553528,;CKB,upstream_gene_variant,,ENST00000554989,;CKB,upstream_gene_variant,,ENST00000557569,;CKB,upstream_gene_variant,,ENST00000555366,;CKB,upstream_gene_variant,,ENST00000557287,;	439	46	34	SUCCESS
MYH6	4624	.	GRCh37	14	23868178	23868178	+	synonymous_variant	Silent	SNP	C	C	T	rs775372834	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	47	72	0	ENST00000356287.3:c.1650G>A	p.Lys550=	p.K550=	ENST00000356287		550	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS9600.1	1650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCTTGAA	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000386041	.	15/39	.	.	.	.	.	.	.	.	rs775372834	15/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,synonymous_variant,p.%3D,ENST00000405093,;MYH6,synonymous_variant,p.%3D,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	1721	72	96	SUCCESS
NGDN	25983	.	GRCh37	14	23947195	23947195	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	59	79	0	ENST00000408901.3:c.929-21C>G		p.*310*	ENST00000408901	NM_015514.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41926.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTCTTGGT	NONE	.	.	.	.	.	ENSP00000386134	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408901	Transcript	.	.	ENSG00000129460	20271	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGDN_HUMAN	NGDN	HGNC	G3V601_HUMAN,G3V4G1_HUMAN	.	UPI000006F7A0	SNV	NGDN,3_prime_UTR_variant,,ENST00000397154,;NGDN,intron_variant,,ENST00000408901,;NGDN,intron_variant,,ENST00000556699,;NGDN,intron_variant,,ENST00000556580,;NGDN,intron_variant,,ENST00000556483,;NGDN,downstream_gene_variant,,ENST00000555128,;NGDN,non_coding_transcript_exon_variant,,ENST00000553439,;NGDN,intron_variant,,ENST00000556103,;NGDN,downstream_gene_variant,,ENST00000556022,;NGDN,downstream_gene_variant,,ENST00000553336,;	.	79	134	SUCCESS
PCNX	0	.	GRCh37	14	71575423	71575423	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	45	75	0	ENST00000304743.2:c.6404A>G	p.His2135Arg	p.H2135R	ENST00000304743	NM_014982.2	2135	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9806.1	6404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCATTCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	tolerated(0.16)	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,missense_variant,p.His1122Arg,ENST00000554691,;PCNX,missense_variant,p.His2063Arg,ENST00000238570,;PCNX,missense_variant,p.His2024Arg,ENST00000439984,;PCNX,missense_variant,p.His2135Arg,ENST00000304743,;PCNX,upstream_gene_variant,,ENST00000555780,;PCNX,non_coding_transcript_exon_variant,,ENST00000556272,;	6850	75	59	SUCCESS
TGM5	9333	.	GRCh37	15	43527750	43527750	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	63	0	ENST00000220420.5:c.1631G>A	p.Ser544Asn	p.S544N	ENST00000220420	NM_201631.3	544	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS32212.1	1631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACTCAGG	NONE	.	.	Superfamily_domains:SSF49309,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Pfam_domain:PF00927,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590	.	.	ENSP00000220420	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000220420	Transcript	1	.	ENSG00000104055	11781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	TGM5_HUMAN	TGM5	HGNC	.	.	UPI0000136CCF	SNV	TGM5,missense_variant,p.Ser544Asn,ENST00000220420,;TGM5,missense_variant,p.Ser462Asn,ENST00000349114,;TGM5,non_coding_transcript_exon_variant,,ENST00000396996,;TGM5,downstream_gene_variant,,ENST00000563838,;	1639	63	91	SUCCESS
PYGO1	26108	.	GRCh37	15	55881035	55881035	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758681711	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	42	0	ENST00000302000.6:c.16T>A	p.Ser6Thr	p.S6T	ENST00000302000	NM_015617.2	6	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS10155.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGAGTTCT	NONE	.	.	hmmpanther:PTHR23194:SF3,hmmpanther:PTHR23194	.	.	ENSP00000302327	.	1/3	.	.	.	.	.	.	.	.	rs758681711	1/3	PASS	ENST00000302000	Transcript	.	.	ENSG00000171016	30256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.28)	.	PYGO1_HUMAN	PYGO1	HGNC	.	.	UPI00000510D0	SNV	PYGO1,missense_variant,p.Ser6Thr,ENST00000302000,;PYGO1,upstream_gene_variant,,ENST00000563719,;	111	42	50	SUCCESS
SLX4	84464	.	GRCh37	16	3633142	3633142	+	synonymous_variant	Silent	SNP	C	C	T	rs777602041	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	70	0	ENST00000294008.3:c.5109G>A	p.Val1703=	p.V1703=	ENST00000294008	NM_032444.2	1703	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10506.2	5109	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCACGGA	NONE	byFrequency	.	hmmpanther:PTHR21541	.	.	ENSP00000294008	.	14/15	.	.	.	.	.	.	.	.	rs777602041	14/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,synonymous_variant,p.%3D,ENST00000294008,;RP11-461A8.1,non_coding_transcript_exon_variant,,ENST00000573982,;	5750	70	80	SUCCESS
FOXC2	2303	.	GRCh37	16	86602407	86602407	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	154	230	0	ENST00000320354.4:c.1466G>T	p.Arg489Leu	p.R489L	ENST00000320354	NM_005251.2	489	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS10958.1	1466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCGCCACG	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF143	.	.	ENSP00000326371	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320354	Transcript	.	.	ENSG00000176692	3801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FOXC2_HUMAN	FOXC2	HGNC	I6YRR3_HUMAN	.	UPI000012ADC6	SNV	FOXC2,missense_variant,p.Arg489Leu,ENST00000320354,;RP11-463O9.5,upstream_gene_variant,,ENST00000563280,;	1551	230	381	SUCCESS
RHOT1	55288	.	GRCh37	17	30469517	30469517	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	10	0	ENST00000333942.6:c.-195C>A		p.*65*	ENST00000333942	NM_018307.3	74		0	.	.	.	.	.	A	R/L	protein_coding	YES	.	221	MUTECT|MUSE	.	GCCGCCGCCAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398832	Transcript	.	.	ENSG00000214708	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.73)	.	.	AC090616.2	Clone_based_vega_gene	A8MZ04_HUMAN	.	UPI0000E59F09	SNV	AC090616.2,missense_variant,p.Arg74Leu,ENST00000398832,;RHOT1,5_prime_UTR_variant,,ENST00000583994,;RHOT1,5_prime_UTR_variant,,ENST00000358365,;RHOT1,5_prime_UTR_variant,,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000354266,;RHOT1,upstream_gene_variant,,ENST00000581094,;RHOT1,upstream_gene_variant,,ENST00000394692,;RHOT1,upstream_gene_variant,,ENST00000545287,;RHOT1,upstream_gene_variant,,ENST00000580976,;RHOT1,upstream_gene_variant,,ENST00000581031,;RHOT1,upstream_gene_variant,,ENST00000578205,;	327	10	34	SUCCESS
SLFN11	91607	.	GRCh37	17	33680410	33680410	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	179	164	0	ENST00000308377.4:c.1867G>T	p.Glu623Ter	p.E623*	ENST00000308377	NM_152270.3	623	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11294.1	1867	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCACAGT	NONE	.	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Pfam_domain:PF09848,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	6/7	.	.	.	.	.	.	.	.	COSM315409	6/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,stop_gained,p.Glu623Ter,ENST00000394566,;SLFN11,stop_gained,p.Glu623Ter,ENST00000308377,;SLFN11,upstream_gene_variant,,ENST00000592108,;	2140	164	332	SUCCESS
FZD2	2535	.	GRCh37	17	42636226	42636226	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs767602533	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	24	0	ENST00000315323.3:c.1170G>T	p.Met390Ile	p.M390I	ENST00000315323	NM_001466.3	390	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS11484.1	1170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGGGCCA	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF34,hmmpanther:PTHR11309,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000323901	.	1/1	.	.	.	.	.	.	.	.	rs767602533	1/1	PASS	ENST00000315323	Transcript	.	.	ENSG00000180340	4040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.03)	.	FZD2_HUMAN	FZD2	HGNC	Q86UZ8_HUMAN	.	UPI0000050444	SNV	FZD2,missense_variant,p.Met390Ile,ENST00000315323,;	1302	24	63	SUCCESS
ZBTB4	57659	.	GRCh37	17	7369773	7369773	+	synonymous_variant	Silent	SNP	A	A	G	rs1357863923	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	64	0	ENST00000311403.4:c.348T>C	p.Ser116=	p.S116=	ENST00000311403	NM_020899.3	116	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11107.1	348	MUTECT|MUSE	.	GGGGGAGAGGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50097,hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF0,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000307858	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000311403	Transcript	.	.	ENSG00000174282	23847	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBTB4_HUMAN	ZBTB4	HGNC	B3KVD4_HUMAN	.	UPI00001A9C9A	SNV	ZBTB4,synonymous_variant,p.%3D,ENST00000311403,;ZBTB4,synonymous_variant,p.%3D,ENST00000380599,;	688	64	47	SUCCESS
QRICH2	84074	.	GRCh37	17	74288391	74288391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530614567	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	29	85	0	ENST00000262765.5:c.1919C>T	p.Ala640Val	p.A640V	ENST00000262765	NM_032134.1	640	gCa/gTa	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS32741.1	1919	RADIA|SOMATICSNIPER|VARSCANS	.	GAACTGCACCA	BUFFER|p.I630_G639del10|c.1888_1917del30|4	byFrequency|by1000G	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78	A:0.001	.	ENSP00000262765	A:0	4/19	.	.	.	.	.	.	.	.	rs530614567	4/19	PASS	ENST00000262765	Transcript	.	A:0.0004	ENSG00000129646	25326	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	A:0.001	tolerated(0.33)	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,missense_variant,p.Ala640Val,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;	2099	85	110	SUCCESS
QRICH2	84074	.	GRCh37	17	74288392	74288392	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs550406051	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	29	82	0	ENST00000262765.5:c.1918G>A	p.Ala640Thr	p.A640T	ENST00000262765	NM_032134.1	640	Gca/Aca	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS32741.1	1918	RADIA|SOMATICSNIPER|VARSCANS	.	AACTGCACCAG	BUFFER|p.I630_G639del10|c.1888_1917del30|4	byFrequency|by1000G	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78	T:0.001	.	ENSP00000262765	T:0	4/19	.	.	.	.	.	.	.	.	rs550406051	4/19	PASS	ENST00000262765	Transcript	.	T:0.0004	ENSG00000129646	25326	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	T:0.001	tolerated(0.33)	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,missense_variant,p.Ala640Thr,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;	2098	82	112	SUCCESS
COLEC12	81035	.	GRCh37	18	347058	347058	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	40	0	ENST00000400256.3:c.564C>A	p.Leu188=	p.L188=	ENST00000400256	NM_130386.2	188	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32782.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGAGCAC	NONE	.	.	hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19	.	.	ENSP00000383115	.	5/10	.	.	.	.	.	.	.	.	COSM1523043	5/10	PASS	ENST00000400256	Transcript	.	.	ENSG00000158270	16016	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	COL12_HUMAN	COLEC12	HGNC	.	.	UPI00002018EC	SNV	COLEC12,synonymous_variant,p.%3D,ENST00000400256,;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	772	40	55	SUCCESS
MAPK4	5596	.	GRCh37	18	48190380	48190380	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	44	0	ENST00000400384.2:c.52G>C	p.Gly18Arg	p.G18R	ENST00000400384	NM_002747.3	18	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS42437.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTGGGCGC	NONE	.	.	hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF25,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000383234	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000400384	Transcript	.	.	ENSG00000141639	6878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	tolerated(0.47)	.	MK04_HUMAN	MAPK4	HGNC	Q0VG04_HUMAN,B4E104_HUMAN,B4DEW2_HUMAN	.	UPI0000201D20	SNV	MAPK4,missense_variant,p.Gly18Arg,ENST00000588540,;MAPK4,missense_variant,p.Gly18Arg,ENST00000592595,;MAPK4,missense_variant,p.Gly18Arg,ENST00000400384,;MAPK4,intron_variant,,ENST00000540640,;MAPK4,upstream_gene_variant,,ENST00000587823,;MAPK4,downstream_gene_variant,,ENST00000586735,;	1088	44	64	SUCCESS
NFIX	4784	.	GRCh37	19	13192654	13192654	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	56	0	ENST00000592199.1:c.1240del	p.Gln414ArgfsTer49	p.Q414Rfs*49	ENST00000592199		413	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS45996.1	1239	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCGGGCCAGGC	NONE	.	.	hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF00859	.	.	ENSP00000380781	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000397661	Transcript	1	.	ENSG00000008441	7788	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFIX_HUMAN	NFIX	HGNC	K7ESG9_HUMAN,K7EKH0_HUMAN	.	UPI000002AF1D	deletion	NFIX,frameshift_variant,p.Gln414ArgfsTer49,ENST00000592199,;NFIX,frameshift_variant,p.Gln406ArgfsTer50,ENST00000587760,;NFIX,frameshift_variant,p.Gln372ArgfsTer49,ENST00000358552,;NFIX,frameshift_variant,p.Gln414ArgfsTer50,ENST00000397661,;NFIX,frameshift_variant,p.Gln376ArgfsTer50,ENST00000360105,;NFIX,frameshift_variant,p.Gln367ArgfsTer49,ENST00000588228,;NFIX,frameshift_variant,p.Gln413ArgfsTer50,ENST00000587260,;NFIX,frameshift_variant,p.Gln406ArgfsTer49,ENST00000585575,;NFIX,3_prime_UTR_variant,,ENST00000586797,;NFIX,downstream_gene_variant,,ENST00000585382,;	1469	56	74	SUCCESS
ZNF101	94039	.	GRCh37	19	19790278	19790278	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	72	0	ENST00000318110.5:c.480A>G	p.Thr160=	p.T160=	ENST00000318110		160	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS32971.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACAGTAAC	NONE	.	.	hmmpanther:PTHR24379	.	.	ENSP00000468049	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000592502	Transcript	.	.	ENSG00000181896	12881	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN101_HUMAN	ZNF101	HGNC	Q96F93_HUMAN,Q0VDG9_HUMAN,K7ENV8_HUMAN	.	UPI0000074138	SNV	ZNF101,synonymous_variant,p.%3D,ENST00000415784,;ZNF101,synonymous_variant,p.%3D,ENST00000541458,;ZNF101,synonymous_variant,p.%3D,ENST00000592502,;ZNF101,3_prime_UTR_variant,,ENST00000444249,;ZNF101,upstream_gene_variant,,ENST00000586745,;ZNF101,synonymous_variant,p.%3D,ENST00000318110,;ZNF101,non_coding_transcript_exon_variant,,ENST00000415440,;ZNF101,upstream_gene_variant,,ENST00000585565,;	590	72	103	SUCCESS
ZNF90	7643	.	GRCh37	19	20229884	20229884	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782460213	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	44	1	ENST00000418063.2:c.1521T>A	p.Asn507Lys	p.N507K	ENST00000418063	NM_007138.1	507	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS46028.1	1521	MUTECT|MUSE	.	GAGAATCCCTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF92,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000410466	.	4/4	.	.	.	.	.	.	.	.	rs782460213	4/4	PASS	ENST00000418063	Transcript	.	.	ENSG00000213988	13165	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	ZNF90_HUMAN	ZNF90	HGNC	.	.	UPI00002376E6	SNV	ZNF90,missense_variant,p.Asn507Lys,ENST00000418063,;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,upstream_gene_variant,,ENST00000484032,;ZNF90,downstream_gene_variant,,ENST00000473524,;	1633	45	62	SUCCESS
FZR1	51343	.	GRCh37	19	3534791	3534791	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	33	0	ENST00000395095.3:c.1450-2A>G		p.X484_splice	ENST00000395095	NM_001136198.1	484		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45916.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCAGGAGT	NONE	.	.	.	.	.	ENSP00000378529	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	HIGH	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,splice_acceptor_variant,,ENST00000313639,;FZR1,splice_acceptor_variant,,ENST00000395095,;FZR1,splice_acceptor_variant,,ENST00000441788,;C19orf71,upstream_gene_variant,,ENST00000329493,;MFSD12,downstream_gene_variant,,ENST00000389395,;MFSD12,downstream_gene_variant,,ENST00000398558,;FZR1,splice_acceptor_variant,,ENST00000588084,;FZR1,splice_acceptor_variant,,ENST00000591290,;MFSD12,downstream_gene_variant,,ENST00000585788,;FZR1,downstream_gene_variant,,ENST00000586212,;MFSD12,downstream_gene_variant,,ENST00000589157,;FZR1,downstream_gene_variant,,ENST00000592214,;	.	33	28	SUCCESS
CNTD2	0	.	GRCh37	19	40732450	40732450	+	synonymous_variant	Silent	SNP	G	G	C	rs749542372	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	52	91	1	ENST00000430325.2:c.99C>G	p.Ala33=	p.A33=	ENST00000430325	NM_024877.3	33	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS12551.2	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGGCAGC	NONE	.	.	hmmpanther:PTHR10177:SF199,hmmpanther:PTHR10177,PIRSF_domain:PIRSF001771	.	.	ENSP00000396755	.	1/5	.	.	.	.	.	.	.	.	rs749542372	1/5	PASS	ENST00000430325	Transcript	.	.	ENSG00000105219	25805	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTD2_HUMAN	CNTD2	HGNC	D6RCS3_HUMAN	.	UPI00017A831A	SNV	CNTD2,synonymous_variant,p.%3D,ENST00000433940,;CNTD2,synonymous_variant,p.%3D,ENST00000430325,;CNTD2,upstream_gene_variant,,ENST00000513948,;AKT2,downstream_gene_variant,,ENST00000392038,;CNTD2,upstream_gene_variant,,ENST00000599263,;CNTD2,synonymous_variant,p.%3D,ENST00000221818,;CNTD2,upstream_gene_variant,,ENST00000593335,;	148	92	142	SUCCESS
ZNF112	7771	.	GRCh37	19	44833582	44833582	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs760531190	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	67	0	ENST00000337401.4:c.746del	p.Glu249GlyfsTer70	p.E249Gfs*70	ENST00000337401	NM_001083335.1	249	gAg/gg	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS54276.1	746	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGACTCCTGA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF1,Superfamily_domains:SSF57667	.	.	ENSP00000337081	.	5/5	.	.	.	.	.	.	.	.	rs760531190	5/5	PASS	ENST00000337401	Transcript	.	.	ENSG00000062370	12892	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN112_HUMAN	ZNF112	HGNC	Q9UFH1_HUMAN,K7ENS0_HUMAN,K7EN57_HUMAN	.	UPI000006EC70	deletion	ZNF112,frameshift_variant,p.Glu266GlyfsTer70,ENST00000536500,;ZNF112,frameshift_variant,p.Glu249GlyfsTer70,ENST00000337401,;ZNF112,frameshift_variant,p.Glu243GlyfsTer70,ENST00000354340,;ZNF112,downstream_gene_variant,,ENST00000587909,;CTC-512J12.6,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000588057,;ZNF112,downstream_gene_variant,,ENST00000592151,;	835	67	133	SUCCESS
FOSB	2354	.	GRCh37	19	45974560	45974560	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	31	0	ENST00000353609.3:c.555+1G>T		p.X185_splice	ENST00000353609	NM_006732.2	185		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12664.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGTGAGG	NONE	.	.	.	.	.	ENSP00000245919	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353609	Transcript	.	.	ENSG00000125740	3797	.	.	HIGH	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOSB_HUMAN	FOSB	HGNC	Q49AD7_HUMAN,K7ERZ8_HUMAN,K7EKC1_HUMAN,K7EKA0_HUMAN	.	UPI000004F5D2	SNV	FOSB,splice_donor_variant,,ENST00000589593,;FOSB,splice_donor_variant,,ENST00000592811,;FOSB,splice_donor_variant,,ENST00000586615,;FOSB,splice_donor_variant,,ENST00000592436,;FOSB,splice_donor_variant,,ENST00000591858,;FOSB,splice_donor_variant,,ENST00000353609,;FOSB,3_prime_UTR_variant,,ENST00000590335,;ERCC1,intron_variant,,ENST00000423698,;FOSB,intron_variant,,ENST00000417353,;FOSB,intron_variant,,ENST00000585836,;FOSB,intron_variant,,ENST00000443841,;FOSB,splice_donor_variant,,ENST00000587358,;FOSB,non_coding_transcript_exon_variant,,ENST00000586113,;	.	31	64	SUCCESS
PIH1D1	55011	.	GRCh37	19	49951314	49951314	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	64	0	ENST00000262265.5:c.343C>G	p.Gln115Glu	p.Q115E	ENST00000262265	NM_017916.2	115	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS12765.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGGCCTT	NONE	.	.	hmmpanther:PTHR22997,Pfam_domain:PF08190	.	.	ENSP00000262265	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000262265	Transcript	.	.	ENSG00000104872	26075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.07)	.	PIHD1_HUMAN	PIH1D1	HGNC	M0R0J2_HUMAN	.	UPI000006F844	SNV	PIH1D1,missense_variant,p.Gln104Glu,ENST00000601807,;PIH1D1,missense_variant,p.Gln41Glu,ENST00000600875,;PIH1D1,missense_variant,p.Gln115Glu,ENST00000596049,;PIH1D1,missense_variant,p.Gln104Glu,ENST00000597415,;PIH1D1,missense_variant,p.Gln115Glu,ENST00000262265,;PIH1D1,missense_variant,p.Gln160Glu,ENST00000599366,;PIH1D1,downstream_gene_variant,,ENST00000595550,;PIH1D1,downstream_gene_variant,,ENST00000601825,;PIH1D1,upstream_gene_variant,,ENST00000602226,;PIH1D1,missense_variant,p.Gln18Glu,ENST00000598889,;PIH1D1,missense_variant,p.Gln59Glu,ENST00000596651,;PIH1D1,missense_variant,p.Gln3Glu,ENST00000594845,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000593629,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000595516,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000593900,;PIH1D1,intron_variant,,ENST00000601053,;PIH1D1,intron_variant,,ENST00000596916,;PIH1D1,upstream_gene_variant,,ENST00000598175,;PIH1D1,downstream_gene_variant,,ENST00000595074,;PIH1D1,upstream_gene_variant,,ENST00000602076,;PIH1D1,upstream_gene_variant,,ENST00000596895,;PIH1D1,upstream_gene_variant,,ENST00000595633,;PIH1D1,upstream_gene_variant,,ENST00000597577,;PIH1D1,downstream_gene_variant,,ENST00000599791,;	579	64	85	SUCCESS
TSACC	128229	.	GRCh37	1	156314368	156314370	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	TAG	TAG	AA	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	TAG	TAG	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	27	0	ENST00000368251.1:c.35-3_35-1delinsAA		p.X12_splice	ENST00000368251		12		0	.	.	.	.	.	AA	.	protein_coding	YES	CCDS1141.1	.	INDELOCATOR*|PINDEL	.	CTGATTTAGTTCCA	NONE	.	.	.	.	.	ENSP00000357238	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368255	Transcript	.	.	ENSG00000163467	30636	.	.	HIGH	2/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSACC_HUMAN	TSACC	HGNC	.	.	UPI000006FD49	substitution	TSACC,splice_acceptor_variant,,ENST00000368252,;TSACC,splice_acceptor_variant,,ENST00000368253,;TSACC,splice_acceptor_variant,,ENST00000368251,;TSACC,splice_acceptor_variant,,ENST00000466306,;TSACC,splice_acceptor_variant,,ENST00000368255,;TSACC,splice_acceptor_variant,,ENST00000368254,;TSACC,splice_acceptor_variant,,ENST00000470342,;TSACC,splice_acceptor_variant,,ENST00000481479,;CCT3,intron_variant,,ENST00000446905,;CCT3,intron_variant,,ENST00000413555,;CCT3,intron_variant,,ENST00000463132,;	.	27	33	SUCCESS
MNDA	4332	.	GRCh37	1	158815468	158815468	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767300186	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	159	220	1	ENST00000368141.4:c.662C>A	p.Ala221Glu	p.A221E	ENST00000368141	NM_002432.1	221	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS1177.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCGCCAT	NONE	.	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200:SF18,hmmpanther:PTHR12200,Gene3D:2.40.50.140,Pfam_domain:PF02760,Superfamily_domains:SSF159141	.	.	ENSP00000357123	.	5/7	.	.	.	.	.	.	.	.	rs767300186,COSM3771491	5/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(1)	0,1	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,missense_variant,p.Ala221Glu,ENST00000368141,;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;	923	221	378	SUCCESS
PADI4	23569	.	GRCh37	1	17668580	17668580	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	23	105	0	ENST00000375448.4:c.795T>G	p.Ile265Met	p.I265M	ENST00000375448	NM_012387.2	265	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS180.1	795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATTACCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF3,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,Superfamily_domains:0044952	.	.	ENSP00000364597	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000375448	Transcript	.	.	ENSG00000159339	18368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	PADI4_HUMAN	PADI4	HGNC	Q6EVJ1_HUMAN	.	UPI000013DFF1	SNV	PADI4,missense_variant,p.Ile265Met,ENST00000375448,;AC004824.2,intron_variant,,ENST00000602074,;PADI4,upstream_gene_variant,,ENST00000468945,;	821	105	136	SUCCESS
TDRD5	163589	.	GRCh37	1	179631411	179631411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	42	0	ENST00000294848.8:c.2333T>C	p.Met778Thr	p.M778T	ENST00000294848	NM_173533.3	778	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS55663.1	2495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATGCCAC	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.14)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Met778Thr,ENST00000367614,;TDRD5,missense_variant,p.Met288Thr,ENST00000417329,;TDRD5,missense_variant,p.Met832Thr,ENST00000444136,;TDRD5,missense_variant,p.Met778Thr,ENST00000294848,;	2745	42	69	SUCCESS
CFH	3075	.	GRCh37	1	196694261	196694261	+	synonymous_variant	Silent	SNP	C	C	T	rs144976181	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	112	196	1	ENST00000367429.4:c.1707C>T	p.Cys569=	p.C569=	ENST00000367429	NM_000186.3	569	tgC/tgT	0	T:0.0054	T:0.0023	.	T:0	.	T	C	protein_coding	YES	CCDS1385.1	1707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCGAACT	CODON|p.E570K|c.1708G>A|3	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	T:0	T:0	ENSP00000356399	T:0	12/22	.	.	.	.	.	.	.	.	rs144976181,COSM298070	12/22	PASS	ENST00000367429	Transcript	.	T:0.0006	ENSG00000000971	4883	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	SNV	CFH,synonymous_variant,p.%3D,ENST00000367429,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	1947	197	293	SUCCESS
TARBP1	6894	.	GRCh37	1	234541734	234541734	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	138	193	0	ENST00000040877.1:c.3904A>G	p.Lys1302Glu	p.K1302E	ENST00000040877	NM_005646.3	1302	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS1601.1	3904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTTACACA	NONE	.	.	PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11,Superfamily_domains:SSF48371	.	.	ENSP00000040877	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000040877	Transcript	.	.	ENSG00000059588	11568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	tolerated(0.27)	.	TARB1_HUMAN	TARBP1	HGNC	.	.	UPI000006DB0F	SNV	TARBP1,missense_variant,p.Lys1302Glu,ENST00000040877,;TARBP1,non_coding_transcript_exon_variant,,ENST00000481183,;TARBP1,non_coding_transcript_exon_variant,,ENST00000483404,;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000468077,;TARBP1,downstream_gene_variant,,ENST00000463793,;TARBP1,upstream_gene_variant,,ENST00000496673,;	3904	193	311	SUCCESS
FMN2	56776	.	GRCh37	1	240374413	240374413	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	35	0	ENST00000319653.9:c.3943T>C	p.Trp1315Arg	p.W1315R	ENST00000319653	NM_020066.4	1315	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS31069.2	3943	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTTGGGAA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498	.	.	ENSP00000318884	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Trp1315Arg,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	4173	35	67	SUCCESS
LRRC8D	55144	.	GRCh37	1	90400553	90400553	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	100	0	ENST00000337338.5:c.1926C>A	p.Leu642=	p.L642=	ENST00000337338	NM_001134479.1	642	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS726.1	1926	MUTECT|MUSE	.	GAACTCCAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF39,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000338887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337338	Transcript	.	.	ENSG00000171492	16992	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRC8D_HUMAN	LRRC8D	HGNC	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN	.	UPI00001BBFBA	SNV	LRRC8D,synonymous_variant,p.%3D,ENST00000394593,;LRRC8D,synonymous_variant,p.%3D,ENST00000337338,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000414841,;RP11-302M6.5,upstream_gene_variant,,ENST00000608671,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	2333	100	98	SUCCESS
SDCBP2	27111	.	GRCh37	20	1294283	1294283	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	11	0	ENST00000339987.3:c.226-141G>T		p.*76*	ENST00000339987	NM_001199784.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42848.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCCTAGG	NONE	.	.	.	.	.	ENSP00000354013	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360779	Transcript	.	.	ENSG00000125775	15756	.	.	MODIFIER	4/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDCB2_HUMAN	SDCBP2	HGNC	.	.	UPI0000135710	SNV	SDCBP2,5_prime_UTR_variant,,ENST00000381808,;SDCBP2,intron_variant,,ENST00000381812,;SDCBP2,intron_variant,,ENST00000339987,;SDCBP2,intron_variant,,ENST00000360779,;SNPH,downstream_gene_variant,,ENST00000381873,;SNPH,downstream_gene_variant,,ENST00000381867,;SDCBP2,upstream_gene_variant,,ENST00000467129,;	.	11	19	SUCCESS
TPTE	7179	.	GRCh37	21	10906970	10906970	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	11	137	0	ENST00000361285.4:c.1591T>A	p.Phe531Ile	p.F531I	ENST00000361285	NM_199261.2	531	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS13560.2	1591	MUTECT|MUSE	.	GGCAAAATCTG	NONE	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Pfam_domain:PF10409,Gene3D:1d5rA02,Superfamily_domains:SSF49562	.	.	ENSP00000355208	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Phe531Ile,ENST00000361285,;TPTE,missense_variant,p.Phe493Ile,ENST00000342420,;TPTE,missense_variant,p.Phe513Ile,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	1921	137	188	SUCCESS
TUBA3E	112714	.	GRCh37	2	130951946	130951946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	116	143	0	ENST00000312988.7:c.469C>A	p.Leu157Ile	p.L157I	ENST00000312988	NM_207312.2	157	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS2158.1	469	RADIA|MUTECT|MUSE	.	TGAGAGCCGCT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161,Prints_domain:PR01162	.	.	ENSP00000318197	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000312988	Transcript	.	.	ENSG00000152086	20765	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.175)	.	deleterious_low_confidence(0.05)	.	TBA3E_HUMAN	TUBA3E	HGNC	F8VXZ7_HUMAN	.	UPI00001BE8EB	SNV	TUBA3E,missense_variant,p.Leu157Ile,ENST00000312988,;MZT2B,downstream_gene_variant,,ENST00000409255,;MZT2B,downstream_gene_variant,,ENST00000457492,;MZT2B,downstream_gene_variant,,ENST00000425361,;MZT2B,downstream_gene_variant,,ENST00000455239,;MZT2B,downstream_gene_variant,,ENST00000281871,;MZT2B,downstream_gene_variant,,ENST00000480182,;	570	143	240	SUCCESS
POTEE	445582	.	GRCh37	2	132021637	132021637	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	98	0	ENST00000356920.5:c.2609C>T	p.Ala870Val	p.A870V	ENST00000356920	NM_001083538.1	870	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46414.1	2609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCCCTCC	NONE	.	.	hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000439189	.	15/15	.	.	.	.	.	.	.	.	COSM1006582	15/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	deleterious_low_confidence(0.02)	1	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,missense_variant,p.Ala870Val,ENST00000356920,;POTEE,3_prime_UTR_variant,,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	2703	98	108	SUCCESS
LANCL1	10314	.	GRCh37	2	211341410	211341410	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	12	0	ENST00000233714.4:c.-56G>C		p.*19*	ENST00000233714				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2392.1	.	MUTECT|MUSE	.	CCTCCCGCGTC	NONE	.	.	.	.	.	ENSP00000388713	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000443314	Transcript	.	.	ENSG00000115365	6508	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LANC1_HUMAN	LANCL1	HGNC	Q53TN2_HUMAN,E9PHS0_HUMAN	.	UPI0000073D7C	SNV	LANCL1,5_prime_UTR_variant,,ENST00000450366,;LANCL1,5_prime_UTR_variant,,ENST00000443314,;LANCL1,5_prime_UTR_variant,,ENST00000233714,;LANCL1,intron_variant,,ENST00000448951,;LANCL1,intron_variant,,ENST00000431941,;LANCL1,intron_variant,,ENST00000441020,;CPS1,upstream_gene_variant,,ENST00000417946,;CPS1,upstream_gene_variant,,ENST00000518043,;CPS1,upstream_gene_variant,,ENST00000523702,;CPS1,upstream_gene_variant,,ENST00000430249,;LANCL1,5_prime_UTR_variant,,ENST00000453956,;	54	12	12	SUCCESS
APOB	338	.	GRCh37	2	21227156	21227156	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	45	0	ENST00000233242.1:c.12072C>A	p.Phe4024Leu	p.F4024L	ENST00000233242	NM_000384.2	4024	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS1703.1	12072	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAGAAGTT	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Phe4024Leu,ENST00000233242,;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	12200	45	53	SUCCESS
UGP2	7360	.	GRCh37	2	64109686	64109686	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	61	91	0	ENST00000337130.5:c.342T>C	p.Asn114=	p.N114=	ENST00000337130	NM_006759.3	114	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS1875.1	342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGGTGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53448,PIRSF_domain:PIRSF000806,Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952:SF1,hmmpanther:PTHR11952	.	.	ENSP00000338703	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000337130	Transcript	.	.	ENSG00000169764	12527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UGPA_HUMAN	UGP2	HGNC	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN	.	UPI000000DB95	SNV	UGP2,synonymous_variant,p.%3D,ENST00000491621,;UGP2,synonymous_variant,p.%3D,ENST00000394417,;UGP2,synonymous_variant,p.%3D,ENST00000488245,;UGP2,synonymous_variant,p.%3D,ENST00000475462,;UGP2,synonymous_variant,p.%3D,ENST00000445915,;UGP2,synonymous_variant,p.%3D,ENST00000337130,;UGP2,synonymous_variant,p.%3D,ENST00000472047,;UGP2,synonymous_variant,p.%3D,ENST00000482668,;UGP2,synonymous_variant,p.%3D,ENST00000467648,;UGP2,synonymous_variant,p.%3D,ENST00000497883,;ACA59,downstream_gene_variant,,ENST00000515966,;UGP2,non_coding_transcript_exon_variant,,ENST00000495020,;UGP2,non_coding_transcript_exon_variant,,ENST00000487469,;UGP2,3_prime_UTR_variant,,ENST00000497510,;UGP2,3_prime_UTR_variant,,ENST00000467999,;UGP2,3_prime_UTR_variant,,ENST00000493222,;UGP2,3_prime_UTR_variant,,ENST00000466642,;UGP2,3_prime_UTR_variant,,ENST00000467400,;UGP2,3_prime_UTR_variant,,ENST00000496334,;UGP2,3_prime_UTR_variant,,ENST00000487042,;UGP2,non_coding_transcript_exon_variant,,ENST00000494536,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,non_coding_transcript_exon_variant,,ENST00000483461,;UGP2,downstream_gene_variant,,ENST00000483108,;	818	91	144	SUCCESS
SPSB4	92369	.	GRCh37	3	140784936	140784936	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	20	0	ENST00000310546.2:c.-11C>A		p.*4*	ENST00000310546	NM_080862.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3115.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCGCAGT	NONE	.	.	.	.	.	ENSP00000311609	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000310546	Transcript	.	.	ENSG00000175093	30630	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPSB4_HUMAN	SPSB4	HGNC	.	.	UPI00000734A4	SNV	SPSB4,5_prime_UTR_variant,,ENST00000310546,;SPSB4,upstream_gene_variant,,ENST00000508126,;	734	20	40	SUCCESS
SI	6476	.	GRCh37	3	164755792	164755792	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	42	0	ENST00000264382.3:c.2322G>A	p.Arg774=	p.R774=	ENST00000264382	NM_001041.3	774	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3196.1	2322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCCTCCA	NONE	.	.	Superfamily_domains:SSF51011,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	21/48	.	.	.	.	.	.	.	.	.	21/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,synonymous_variant,p.%3D,ENST00000264382,;	2385	42	62	SUCCESS
SAMD7	344658	.	GRCh37	3	169639109	169639109	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	65	0	ENST00000335556.3:c.194C>T	p.Ser65Phe	p.S65F	ENST00000335556		65	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3209.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCCAGTC	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF17	.	.	ENSP00000391299	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000428432	Transcript	.	.	ENSG00000187033	25394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0.03)	.	SAMD7_HUMAN	SAMD7	HGNC	.	.	UPI00001A9D13	SNV	SAMD7,missense_variant,p.Ser65Phe,ENST00000335556,;SAMD7,missense_variant,p.Ser65Phe,ENST00000428432,;SAMD7,missense_variant,p.Ser65Phe,ENST00000487910,;	583	65	91	SUCCESS
PLCL2	23228	.	GRCh37	3	17052798	17052798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	53	73	0	ENST00000418129.2:c.1582A>T	p.Ser528Cys	p.S528C	ENST00000418129	NM_001144382.1	528	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS33713.1	1582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCAGCAAG	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF84,Pfam_domain:PF00387,Gene3D:3.20.20.190,SMART_domains:SM00149,Superfamily_domains:SSF51695	.	.	ENSP00000409637	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000418129	Transcript	.	.	ENSG00000154822	9064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	tolerated(0.07)	.	PLCL2_HUMAN	PLCL2	HGNC	.	.	UPI0000141145	SNV	PLCL2,missense_variant,p.Ser528Cys,ENST00000396755,;PLCL2,missense_variant,p.Ser272Cys,ENST00000419842,;PLCL2,missense_variant,p.Ser528Cys,ENST00000432376,;PLCL2,missense_variant,p.Ser528Cys,ENST00000418129,;PLCL2,downstream_gene_variant,,ENST00000460467,;	2047	73	144	SUCCESS
PCYT1A	5130	.	GRCh37	3	195965614	195965614	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs200512211	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	56	0	ENST00000292823.2:c.1049A>G	p.Asn350Ser	p.N350S	ENST00000292823	NM_005017.2	350	aAt/aGt	0	.	C:0	.	C:0	.	C	N/S	protein_coding	YES	CCDS3315.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATTTGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF19	C:0.001	.	ENSP00000292823	C:0	10/10	.	.	.	.	.	.	.	.	rs200512211	10/10	PASS	ENST00000292823	Transcript	.	C:0.0002	ENSG00000161217	8754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	C:0	tolerated(0.34)	.	PCY1A_HUMAN	PCYT1A	HGNC	C9JVS0_HUMAN,C9JPY0_HUMAN,C9J050_HUMAN	.	UPI000000DB72	SNV	PCYT1A,missense_variant,p.Asn350Ser,ENST00000419333,;PCYT1A,missense_variant,p.Asn350Ser,ENST00000431016,;PCYT1A,missense_variant,p.Asn350Ser,ENST00000292823,;PCYT1A,intron_variant,,ENST00000441879,;SLC51A,intron_variant,,ENST00000415111,;PCYT1A,downstream_gene_variant,,ENST00000433733,;PCYT1A,downstream_gene_variant,,ENST00000411591,;PCYT1A,downstream_gene_variant,,ENST00000430755,;SLC51A,intron_variant,,ENST00000496737,;SLC51A,downstream_gene_variant,,ENST00000479732,;PCYT1A,downstream_gene_variant,,ENST00000488235,;PCYT1A,downstream_gene_variant,,ENST00000444822,;PCYT1A,downstream_gene_variant,,ENST00000460827,;PCYT1A,downstream_gene_variant,,ENST00000460677,;PCYT1A,downstream_gene_variant,,ENST00000473978,;	1222	56	109	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	77	85	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	85	134	SUCCESS
ADH4	127	.	GRCh37	4	100060242	100060242	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	46	59	0	ENST00000265512.7:c.320G>C	p.Ser107Thr	p.S107T	ENST00000265512	NM_000670.3	107	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS34032.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGACTCAGA	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,Gene3D:3.90.180.10,Pfam_domain:PF08240,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000265512	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000265512	Transcript	.	.	ENSG00000198099	252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.49)	.	tolerated(0.08)	.	ADH4_HUMAN	ADH4	HGNC	.	.	UPI00001AE8DE	SNV	ADH4,missense_variant,p.Ser107Thr,ENST00000265512,;ADH4,missense_variant,p.Ser107Thr,ENST00000504125,;ADH4,missense_variant,p.Ser126Thr,ENST00000423445,;ADH4,missense_variant,p.Ser126Thr,ENST00000508393,;ADH4,missense_variant,p.Ser126Thr,ENST00000505590,;ADH4,missense_variant,p.Ser126Thr,ENST00000512499,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,intron_variant,,ENST00000503944,;ADH4,downstream_gene_variant,,ENST00000504581,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,non_coding_transcript_exon_variant,,ENST00000503416,;ADH4,upstream_gene_variant,,ENST00000509471,;ADH4,downstream_gene_variant,,ENST00000504894,;	395	59	137	SUCCESS
INTS12	57117	.	GRCh37	4	106604433	106604433	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	50	57	0	ENST00000340139.5:c.846T>A	p.Val282=	p.V282=	ENST00000340139	NM_020395.3	282	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3671.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAAACGCT	NONE	.	.	hmmpanther:PTHR13415,Low_complexity_(Seg):seg	.	.	ENSP00000415433	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000451321	Transcript	.	.	ENSG00000138785	25067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT12_HUMAN	INTS12	HGNC	E9PGI3_HUMAN,C9JDP3_HUMAN,C9J0M6_HUMAN	.	UPI0000072C63	SNV	INTS12,synonymous_variant,p.%3D,ENST00000451321,;INTS12,synonymous_variant,p.%3D,ENST00000394735,;INTS12,synonymous_variant,p.%3D,ENST00000340139,;ARHGEF38,downstream_gene_variant,,ENST00000420470,;ARHGEF38,intron_variant,,ENST00000503289,;INTS12,non_coding_transcript_exon_variant,,ENST00000493425,;RP11-311D14.1,upstream_gene_variant,,ENST00000503155,;	1326	57	94	SUCCESS
FHDC1	85462	.	GRCh37	4	153897264	153897264	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567145547	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	52	130	1	ENST00000260008.3:c.2821C>T	p.Arg941Cys	p.R941C	ENST00000260008	NM_033393.2	941	Cgc/Tgc	0	.	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS34081.1	2821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACGCCAG	NONE	by1000G	.	hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213	T:0	.	ENSP00000427567	T:0	12/12	.	.	.	.	.	.	.	.	rs567145547,COSM3600981	12/12	PASS	ENST00000511601	Transcript	.	T:0.0002	ENSG00000137460	29363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.891)	T:0	deleterious(0)	0,1	FHDC1_HUMAN	FHDC1	HGNC	.	.	UPI00001D7673	SNV	FHDC1,missense_variant,p.Arg941Cys,ENST00000511601,;FHDC1,missense_variant,p.Arg941Cys,ENST00000260008,;	3009	131	182	SUCCESS
MSANTD1	345222	.	GRCh37	4	3255044	3255044	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs541435320	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	36	47	0	ENST00000438480.2:c.431C>T	p.Pro144Leu	p.P144L	ENST00000438480	NM_001042690.1	144	cCg/cTg	0	.	T:0	.	T:0.0014	.	T	P/L	protein_coding	YES	CCDS47003.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCGGACA	NONE	by1000G	.	hmmpanther:PTHR22666	T:0	.	ENSP00000411584	T:0	2/3	.	.	.	.	.	.	.	.	rs541435320,COSM1054904,COSM1054903	2/3	PASS	ENST00000438480	Transcript	.	T:0.0002	ENSG00000188981	33741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.124)	T:0	tolerated(0.67)	0,1,1	MSD1_HUMAN	MSANTD1	HGNC	.	.	UPI000036721F	SNV	MSANTD1,missense_variant,p.Pro131Leu,ENST00000507492,;MSANTD1,missense_variant,p.Pro144Leu,ENST00000438480,;MSANTD1,missense_variant,p.Pro144Leu,ENST00000510580,;MSANTD1,missense_variant,p.Pro144Leu,ENST00000505599,;	2178	47	70	SUCCESS
KDM3B	51780	.	GRCh37	5	137762974	137762974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	81	51	0	ENST00000314358.5:c.4599G>T	p.Arg1533Ser	p.R1533S	ENST00000314358	NM_016604.3	1533	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS34242.1	4599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAGGCCTGA	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000326563	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,missense_variant,p.Arg565Ser,ENST00000542866,;KDM3B,missense_variant,p.Arg1189Ser,ENST00000394866,;KDM3B,missense_variant,p.Arg1533Ser,ENST00000314358,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,non_coding_transcript_exon_variant,,ENST00000509468,;KDM3B,downstream_gene_variant,,ENST00000505756,;	4799	51	120	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140773210	140773210	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	137	179	0	ENST00000398604.2:c.830T>C	p.Val277Ala	p.V277A	ENST00000398604	NM_032088.1	277	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS47291.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTGGCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0)	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Val277Ala,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	830	179	349	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140792981	140792981	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755805602	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	56	81	0	ENST00000398610.2:c.239C>A	p.Ser80Tyr	p.S80Y	ENST00000398610	NM_018913.2	80	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS47292.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCTCTGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	rs755805602	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious_low_confidence(0)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Ser80Tyr,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	239	81	230	SUCCESS
SH3RF2	153769	.	GRCh37	5	145439465	145439465	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	37	63	0	ENST00000359120.4:c.1592C>T	p.Pro531Leu	p.P531L	ENST00000359120	NM_152550.3	531	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4280.1	1592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCCACTC	NONE	.	.	.	.	.	ENSP00000424497	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000511217	Transcript	.	.	ENSG00000156463	26299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.16)	.	SH3R2_HUMAN	SH3RF2	HGNC	.	.	UPI0000457366	SNV	SH3RF2,missense_variant,p.Pro531Leu,ENST00000359120,;SH3RF2,missense_variant,p.Pro531Leu,ENST00000511217,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000511705,;SH3RF2,intron_variant,,ENST00000503848,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000504522,;	1644	63	164	SUCCESS
TCERG1	10915	.	GRCh37	5	145858215	145858215	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	29	56	0	ENST00000296702.5:c.1762del	p.Arg588GlyfsTer17	p.R588Gfs*17	ENST00000296702	NM_006706.3	587	ctA/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS4282.1	1761	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAACTAAGTAA	NONE	.	.	hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF7	.	.	ENSP00000296702	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000296702	Transcript	.	.	ENSG00000113649	15630	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TCRG1_HUMAN	TCERG1	HGNC	.	.	UPI000013E374	deletion	TCERG1,frameshift_variant,p.Arg588GlyfsTer17,ENST00000296702,;TCERG1,frameshift_variant,p.Arg567GlyfsTer17,ENST00000394421,;TCERG1,splice_region_variant,,ENST00000515203,;TCERG1,frameshift_variant,p.Arg588GlyfsTer17,ENST00000549332,;TCERG1,splice_region_variant,,ENST00000509810,;TCERG1,splice_region_variant,,ENST00000507175,;TCERG1,upstream_gene_variant,,ENST00000506524,;	1799	56	201	SUCCESS
SGCD	6444	.	GRCh37	5	156184954	156184954	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	40	0	ENST00000435422.3:c.696+240del		p.*232*	ENST00000435422	NM_001128209.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47325.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGAATTATAT	NONE	.	.	.	.	.	ENSP00000338343	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337851	Transcript	1	.	ENSG00000170624	10807	1	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SGCD_HUMAN	SGCD	HGNC	.	.	UPI00001678CF	deletion	SGCD,3_prime_UTR_variant,,ENST00000447401,;SGCD,3_prime_UTR_variant,,ENST00000517913,;SGCD,intron_variant,,ENST00000435422,;SGCD,intron_variant,,ENST00000337851,;	.	40	119	SUCCESS
EBF1	1879	.	GRCh37	5	158139179	158139179	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	36	65	0	ENST00000313708.6:c.1532C>A	p.Ala511Asp	p.A511D	ENST00000313708	NM_024007.3	511	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4343.1	1532	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGCAGCT	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	deleterious_low_confidence(0)	.	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,missense_variant,p.Ala480Asp,ENST00000380654,;EBF1,missense_variant,p.Ala511Asp,ENST00000313708,;EBF1,intron_variant,,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,upstream_gene_variant,,ENST00000518323,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	1815	65	186	SUCCESS
PRELID1	27166	.	GRCh37	5	176733526	176733534	+	inframe_deletion	In_Frame_Del	DEL	CAAGGCGGC	CAAGGCGGC	-	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	CAAGGCGGC	CAAGGCGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	79	0	ENST00000303204.4:c.617_625del	p.Lys206_Ala208del	p.K206_A208del	ENST00000303204	NM_013237.3	205	agCAAGGCGGCc/agc	0	.	.	.	.	.	-	SKAA/S	protein_coding	YES	CCDS4415.1	615-623	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCCAGCAAGGCGGCCACCA	NONE	.	.	hmmpanther:PTHR11158:SF21,hmmpanther:PTHR11158,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000302114	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000303204	Transcript	.	.	ENSG00000169230	30255	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRLD1_HUMAN	PRELID1	HGNC	.	.	UPI0000070DF2	deletion	PRELID1,inframe_deletion,p.Lys206_Ala208del,ENST00000303204,;PRELID1,inframe_deletion,p.Arg175_Pro177del,ENST00000503853,;PRELID1,inframe_deletion,p.Lys195_Ala197del,ENST00000503216,;MXD3,3_prime_UTR_variant,,ENST00000427908,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;RAB24,upstream_gene_variant,,ENST00000504395,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;PRELID1,3_prime_UTR_variant,,ENST00000504594,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;PRELID1,downstream_gene_variant,,ENST00000510797,;MXD3,downstream_gene_variant,,ENST00000503782,;PRELID1,downstream_gene_variant,,ENST00000511309,;RAB24,upstream_gene_variant,,ENST00000512758,;PRELID1,downstream_gene_variant,,ENST00000510701,;RAB24,upstream_gene_variant,,ENST00000495458,;	827-835	79	120	SUCCESS
IRX4	50805	.	GRCh37	5	1878323	1878323	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	46	56	0	ENST00000231357.2:c.1320C>A	p.Asp440Glu	p.D440E	ENST00000231357	NM_016358.2	440	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3867.1	1320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGTCCAC	NONE	.	.	hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,missense_variant,p.Asp440Glu,ENST00000231357,;IRX4,missense_variant,p.Asp440Glu,ENST00000513692,;IRX4,missense_variant,p.Asp440Glu,ENST00000505790,;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	1777	56	79	SUCCESS
PRDM9	56979	.	GRCh37	5	23527109	23527109	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	66	161	0	ENST00000296682.3:c.1912T>G	p.Cys638Gly	p.C638G	ENST00000296682	NM_020227.2	638	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS43307.1	1912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCTGCAGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	.	.	ENSP00000296682	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,missense_variant,p.Cys638Gly,ENST00000296682,;	2094	161	230	SUCCESS
ADCY2	108	.	GRCh37	5	7727323	7727323	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778812617	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	31	0	ENST00000338316.4:c.1820C>A	p.Ala607Asp	p.A607D	ENST00000338316	NM_020546.2	607	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS3872.2	1820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGCCTGTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	14/25	.	.	.	.	.	.	.	.	rs778812617	14/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Ala607Asp,ENST00000338316,;ADCY2,missense_variant,p.Ala427Asp,ENST00000537121,;RP11-711G10.1,intron_variant,,ENST00000514105,;	1909	31	46	SUCCESS
GPR98	0	.	GRCh37	5	90077183	90077183	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	44	102	0	ENST00000405460.2:c.13083-64T>C		p.*4361*	ENST00000405460	NM_032119.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47246.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCTATGCAAT	NONE	.	.	.	.	.	ENSP00000384582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODIFIER	64/89	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,start_lost,p.Met1?,ENST00000425867,;GPR98,intron_variant,,ENST00000405460,;	.	102	154	SUCCESS
SASH1	23328	.	GRCh37	6	148855918	148855918	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	33	56	0	ENST00000367467.3:c.1976A>G	p.Tyr659Cys	p.Y659C	ENST00000367467	NM_015278.3	659	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5212.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATATGAAG	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000356437	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,missense_variant,p.Tyr659Cys,ENST00000367467,;	2451	56	40	SUCCESS
LATS1	9113	.	GRCh37	6	150001298	150001298	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	58	83	0	ENST00000253339.5:c.2306A>G	p.Tyr769Cys	p.Y769C	ENST00000253339		769	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34551.1	2306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATATAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000437550	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000543571	Transcript	.	.	ENSG00000131023	6514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LATS1_HUMAN	LATS1	HGNC	.	.	UPI0000073DC2	SNV	LATS1,missense_variant,p.Tyr769Cys,ENST00000253339,;LATS1,missense_variant,p.Tyr769Cys,ENST00000543571,;LATS1,downstream_gene_variant,,ENST00000392273,;LATS1,downstream_gene_variant,,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;	2854	83	77	SUCCESS
OR10C1	442194	.	GRCh37	6	29408581	29408581	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	37	0	ENST00000444197.2:c.789C>T	p.Ala263=	p.A263=	ENST00000444197	NM_013941.3	263	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34364.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCAGCTA	BUFFER|p.D266N|c.796G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000419119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444197	Transcript	.	.	ENSG00000206474	8165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10C1_HUMAN	OR10C1	HGNC	.	.	UPI000014068E	SNV	OR10C1,synonymous_variant,p.%3D,ENST00000444197,;OR11A1,intron_variant,,ENST00000377149,;	1499	37	68	SUCCESS
GPSM3	63940	.	GRCh37	6	32160269	32160269	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	43	0	ENST00000375040.3:c.22G>T	p.Glu8Ter	p.E8*	ENST00000375040	NM_001276501.1	8	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34419.1	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10098:SF99,hmmpanther:PTHR10098	.	.	ENSP00000364180	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000375040	Transcript	.	.	ENSG00000213654	13945	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPSM3_HUMAN	GPSM3	HGNC	.	.	UPI0000073FDF	SNV	GPSM3,stop_gained,p.Glu8Ter,ENST00000375043,;GPSM3,stop_gained,p.Glu8Ter,ENST00000375040,;GPSM3,5_prime_UTR_variant,,ENST00000487761,;NOTCH4,downstream_gene_variant,,ENST00000375023,;PBX2,upstream_gene_variant,,ENST00000375050,;NOTCH4,downstream_gene_variant,,ENST00000443903,;GPSM3,stop_gained,p.Glu8Ter,ENST00000472768,;PBX2,upstream_gene_variant,,ENST00000496171,;PBX2,upstream_gene_variant,,ENST00000480254,;PBX2,upstream_gene_variant,,ENST00000495300,;PBX2,upstream_gene_variant,,ENST00000478678,;NOTCH4,downstream_gene_variant,,ENST00000474612,;NOTCH4,downstream_gene_variant,,ENST00000491215,;	415	43	44	SUCCESS
RXRB	6257	.	GRCh37	6	33165574	33165574	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1200610906	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	34	0	ENST00000374680.3:c.785A>G	p.Tyr262Cys	p.Y262C	ENST00000374680	NM_021976.4	262	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS59007.1	785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATAGCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Superfamily_domains:SSF48508,Prints_domain:PR00047,Prints_domain:PR00047	.	.	ENSP00000363817	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	SNV	RXRB,missense_variant,p.Tyr72Cys,ENST00000544186,;RXRB,missense_variant,p.Tyr166Cys,ENST00000413614,;RXRB,missense_variant,p.Tyr262Cys,ENST00000374680,;RXRB,missense_variant,p.Tyr262Cys,ENST00000374685,;SLC39A7,upstream_gene_variant,,ENST00000374675,;SLC39A7,upstream_gene_variant,,ENST00000444757,;SLC39A7,upstream_gene_variant,,ENST00000374677,;RNY4P10,upstream_gene_variant,,ENST00000365571,;SLC39A7,upstream_gene_variant,,ENST00000463972,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,upstream_gene_variant,,ENST00000483821,;	923	34	84	SUCCESS
UNC5CL	222643	.	GRCh37	6	41002766	41002766	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	32	0	ENST00000244565.3:c.48G>A	p.Leu16=	p.L16=	ENST00000244565	NM_173561.2	16	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4847.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCAGCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF39	.	.	ENSP00000244565	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000244565	Transcript	.	.	ENSG00000124602	21203	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN5CL_HUMAN	UNC5CL	HGNC	H8YHX0_HUMAN	.	UPI00001609DB	SNV	UNC5CL,synonymous_variant,p.%3D,ENST00000373164,;UNC5CL,synonymous_variant,p.%3D,ENST00000244565,;UNC5CL,upstream_gene_variant,,ENST00000470102,;OARD1,3_prime_UTR_variant,,ENST00000482853,;	137	32	60	SUCCESS
PRPH2	5961	.	GRCh37	6	42689887	42689887	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755239769	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	45	67	0	ENST00000230381.5:c.186C>A	p.Asn62Lys	p.N62K	ENST00000230381	NM_000322.4	62	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS4871.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAGTTGGG	NONE	byFrequency	.	hmmpanther:PTHR19282:SF202,hmmpanther:PTHR19282,Pfam_domain:PF00335,Prints_domain:PR00218	.	.	ENSP00000230381	.	1/3	.	.	.	.	.	.	.	.	rs755239769	1/3	PASS	ENST00000230381	Transcript	.	.	ENSG00000112619	9942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.623)	.	tolerated(0.07)	.	PRPH2_HUMAN	PRPH2	HGNC	.	.	UPI0000072942	SNV	PRPH2,missense_variant,p.Asn62Lys,ENST00000230381,;	426	67	91	SUCCESS
ZNF451	26036	.	GRCh37	6	56966974	56966974	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	21	0	ENST00000370706.4:c.186+3035A>G		p.*62*	ENST00000370706	NM_001031623.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43477.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTACAGGT	NONE	.	.	.	.	.	ENSP00000359740	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,3_prime_UTR_variant,,ENST00000370708,;ZNF451,intron_variant,,ENST00000370706,;ZNF451,intron_variant,,ENST00000370702,;ZNF451,intron_variant,,ENST00000357489,;ZNF451,intron_variant,,ENST00000510483,;ZNF451,intron_variant,,ENST00000515290,;ZNF451,intron_variant,,ENST00000491832,;ZNF451,downstream_gene_variant,,ENST00000370710,;ZNF451,downstream_gene_variant,,ENST00000508603,;ZNF451,intron_variant,,ENST00000509071,;ZNF451,upstream_gene_variant,,ENST00000509251,;ZNF451,downstream_gene_variant,,ENST00000510989,;ZNF451,intron_variant,,ENST00000502749,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,intron_variant,,ENST00000370711,;ZNF451,intron_variant,,ENST00000444273,;	.	21	31	SUCCESS
FILIP1	27145	.	GRCh37	6	76023019	76023019	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	44	104	0	ENST00000237172.7:c.2529G>C	p.Leu843Phe	p.L843F	ENST00000237172	NM_015687.2	843	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS4984.1	2529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCAATCC	NONE	.	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	tolerated(0.32)	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,missense_variant,p.Leu744Phe,ENST00000370020,;FILIP1,missense_variant,p.Leu843Phe,ENST00000393004,;FILIP1,missense_variant,p.Leu843Phe,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;	2860	104	129	SUCCESS
FBXL4	26235	.	GRCh37	6	99323549	99323549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs398123061	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	10	59	0	ENST00000229971.1:c.1444C>T	p.Arg482Trp	p.R482W	ENST00000229971	NM_012160.4	482	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS5041.1	1444	RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	GGTCCGGAGTT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52047,SMART_domains:SM00367,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	9/10	.	.	.	.	.	.	.	.	rs398123061	9/10	PASS	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.796)	.	tolerated(0.12)	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,missense_variant,p.Arg482Trp,ENST00000229971,;FBXL4,missense_variant,p.Arg482Trp,ENST00000369244,;	1873	59	87	SUCCESS
CUX1	1523	.	GRCh37	7	101845470	101845470	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782375328	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	77	0	ENST00000292535.7:c.2893A>G	p.Ile965Val	p.I965V	ENST00000292535	NM_181552.3	965	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS56498.1	2926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAATCTTC	NONE	byFrequency	.	PROSITE_profiles:PS51042,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043,Gene3D:1.10.260.40,Pfam_domain:PF02376,Superfamily_domains:SSF47413	.	.	ENSP00000353401	.	18/24	.	.	.	.	.	.	.	.	rs782375328	18/24	PASS	ENST00000360264	Transcript	.	.	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,missense_variant,p.Ile863Val,ENST00000546411,;CUX1,missense_variant,p.Ile807Val,ENST00000556210,;CUX1,missense_variant,p.Ile943Val,ENST00000549414,;CUX1,missense_variant,p.Ile976Val,ENST00000360264,;CUX1,missense_variant,p.Ile965Val,ENST00000292535,;CUX1,missense_variant,p.Ile909Val,ENST00000550008,;CUX1,intron_variant,,ENST00000437600,;CUX1,intron_variant,,ENST00000547394,;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000425244,;CUX1,intron_variant,,ENST00000393824,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	2946	77	89	SUCCESS
ING3	54556	.	GRCh37	7	120590829	120590829	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	50	0	ENST00000315870.5:c.-122T>A		p.*41*	ENST00000315870	NM_019071.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5778.1	.	SOMATICSNIPER|VARSCANS	.	TTTTTTGCCGG	NONE	.	.	.	.	.	ENSP00000320566	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000315870	Transcript	.	.	ENSG00000071243	14587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ING3_HUMAN	ING3	HGNC	E7ET07_HUMAN	.	UPI00000373B3	SNV	ING3,5_prime_UTR_variant,,ENST00000339121,;ING3,5_prime_UTR_variant,,ENST00000315870,;ING3,upstream_gene_variant,,ENST00000431467,;ING3,upstream_gene_variant,,ENST00000445699,;ING3,upstream_gene_variant,,ENST00000427726,;	27	50	59	SUCCESS
TTC26	79989	.	GRCh37	7	138849981	138849981	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	47	0	ENST00000464848.1:c.895+1G>T		p.X299_splice	ENST00000464848	NM_001287513.1	299		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5852.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTAAGA	NONE	.	.	.	.	.	ENSP00000419279	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000464848	Transcript	.	.	ENSG00000105948	21882	.	.	HIGH	9/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC26_HUMAN	TTC26	HGNC	B7Z1H0_HUMAN	.	UPI000020FBAD	SNV	TTC26,splice_donor_variant,,ENST00000430935,;TTC26,splice_donor_variant,,ENST00000495038,;TTC26,splice_donor_variant,,ENST00000478836,;TTC26,splice_donor_variant,,ENST00000343187,;TTC26,splice_donor_variant,,ENST00000464848,;TTC26,downstream_gene_variant,,ENST00000474035,;TTC26,splice_donor_variant,,ENST00000481482,;TTC26,splice_donor_variant,,ENST00000476296,;	.	47	89	SUCCESS
TRPV5	56302	.	GRCh37	7	142630628	142630628	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	27	0	ENST00000265310.1:c.-72C>T		p.*24*	ENST00000265310	NM_019841.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5875.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGAGCAA	NONE	.	.	.	.	.	ENSP00000265310	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,5_prime_UTR_variant,,ENST00000442623,;TRPV5,5_prime_UTR_variant,,ENST00000265310,;TRPV5,upstream_gene_variant,,ENST00000439304,;	278	27	56	SUCCESS
CLCN1	1180	.	GRCh37	7	143018842	143018842	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	72	0	ENST00000343257.2:c.597T>A	p.Arg199=	p.R199=	ENST00000343257	NM_000083.2	199	cgT/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5881.1	597	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGTGGGGT	BUFFER|p.R199C|c.595C>T|5	.	.	Prints_domain:PR00762,Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	.	.	ENSP00000339867	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000343257	Transcript	.	.	ENSG00000188037	2019	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,synonymous_variant,p.%3D,ENST00000343257,;CLCN1,non_coding_transcript_exon_variant,,ENST00000495612,;CLCN1,synonymous_variant,p.%3D,ENST00000455478,;CLCN1,synonymous_variant,p.%3D,ENST00000432192,;	684	72	94	SUCCESS
GIMAP7	168537	.	GRCh37	7	150217878	150217878	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	62	0	ENST00000313543.4:c.816A>G	p.Ile272Met	p.I272M	ENST00000313543	NM_153236.3	272	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS5903.1	816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATATTTAA	NONE	.	.	hmmpanther:PTHR10903:SF53,hmmpanther:PTHR10903	.	.	ENSP00000315474	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313543	Transcript	.	.	ENSG00000179144	22404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	deleterious(0.04)	.	GIMA7_HUMAN	GIMAP7	HGNC	.	.	UPI0000036B86	SNV	GIMAP7,missense_variant,p.Ile272Met,ENST00000313543,;	973	62	128	SUCCESS
SHH	6469	.	GRCh37	7	155604917	155604917	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	28	0	ENST00000297261.2:c.-101G>A		p.*34*	ENST00000297261	NM_000193.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5942.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCTTCCT	NONE	.	.	.	.	.	ENSP00000297261	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000297261	Transcript	.	.	ENSG00000164690	10848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHH_HUMAN	SHH	HGNC	D9ZGF9_HUMAN	.	UPI0000135942	SNV	SHH,5_prime_UTR_variant,,ENST00000297261,;SHH,upstream_gene_variant,,ENST00000430104,;SHH,upstream_gene_variant,,ENST00000472308,;SHH,upstream_gene_variant,,ENST00000441114,;SHH,upstream_gene_variant,,ENST00000435425,;	51	28	44	SUCCESS
CREB5	9586	.	GRCh37	7	28843947	28843947	+	synonymous_variant	Silent	SNP	G	G	T	rs139638068	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	55	72	0	ENST00000357727.2:c.834G>T	p.Pro278=	p.P278=	ENST00000357727	NM_182898.2	278	ccG/ccT	0	A:0	.	.	.	.	T	P	protein_coding	YES	CCDS5417.1	834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGCATCA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19304:SF8,hmmpanther:PTHR19304,PIRSF_domain:PIRSF003153	.	A:0.0002	ENSP00000350359	.	8/11	.	.	.	.	.	.	.	.	rs139638068	8/11	PASS	ENST00000357727	Transcript	.	.	ENSG00000146592	16844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CREB5_HUMAN	CREB5	HGNC	H9KVC5_HUMAN,C9JN33_HUMAN	.	UPI0000457534	SNV	CREB5,synonymous_variant,p.%3D,ENST00000426500,;CREB5,synonymous_variant,p.%3D,ENST00000409603,;CREB5,synonymous_variant,p.%3D,ENST00000396298,;CREB5,synonymous_variant,p.%3D,ENST00000357727,;CREB5,synonymous_variant,p.%3D,ENST00000396299,;CREB5,synonymous_variant,p.%3D,ENST00000396300,;	1224	72	134	SUCCESS
SCRN1	9805	.	GRCh37	7	29966170	29966170	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	49	0	ENST00000242059.5:c.984C>T	p.Asp328=	p.D328=	ENST00000242059	NM_001145515.1	328	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS47567.1	1044	MUTECT|MUSE	.	GGGTCGTCATC	NONE	.	.	hmmpanther:PTHR12994:SF7,hmmpanther:PTHR12994	.	.	ENSP00000388942	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000434476	Transcript	.	.	ENSG00000136193	22192	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCRN1_HUMAN	SCRN1	HGNC	C9K052_HUMAN,C9J7U9_HUMAN,B4DH22_HUMAN	.	UPI000194EC2F	SNV	SCRN1,synonymous_variant,p.%3D,ENST00000434476,;SCRN1,synonymous_variant,p.%3D,ENST00000425819,;SCRN1,synonymous_variant,p.%3D,ENST00000426154,;SCRN1,synonymous_variant,p.%3D,ENST00000242059,;SCRN1,synonymous_variant,p.%3D,ENST00000416113,;SCRN1,synonymous_variant,p.%3D,ENST00000409497,;	1093	49	80	SUCCESS
C7orf57	136288	.	GRCh37	7	48083075	48083075	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	71	0	ENST00000348904.3:c.242-3G>C		p.X81_splice	ENST00000348904	NM_001100159.2	81		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47583.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGAGATT	NONE	.	.	.	.	.	ENSP00000335500	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348904	Transcript	.	.	ENSG00000164746	22247	.	.	LOW	3/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CG057_HUMAN	C7orf57	HGNC	.	.	UPI00001C1E6B	SNV	C7orf57,splice_region_variant,,ENST00000435376,;C7orf57,splice_region_variant,,ENST00000348904,;C7orf57,splice_region_variant,,ENST00000430738,;C7orf57,splice_region_variant,,ENST00000539619,;C7orf57,splice_region_variant,,ENST00000420324,;C7orf57,downstream_gene_variant,,ENST00000461741,;	.	71	78	SUCCESS
DGAT1	8694	.	GRCh37	8	145541100	145541100	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	24	0	ENST00000528718.1:n.56T>G		p.*19*	ENST00000528718		330		0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS6420.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGATTGGG	NONE	.	.	hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF7,Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500231	.	.	ENSP00000332258	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	SNV	DGAT1,missense_variant,p.Asn330Lys,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,intron_variant,,ENST00000526479,;DGAT1,intron_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,upstream_gene_variant,,ENST00000527438,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527885,;DGAT1,non_coding_transcript_exon_variant,,ENST00000528718,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;HSF1,downstream_gene_variant,,ENST00000527328,;	1264	24	60	SUCCESS
R3HCC1	203069	.	GRCh37	8	23153535	23153535	+	synonymous_variant	Silent	SNP	G	G	A	rs956190571	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	149	0	ENST00000411463.1:c.1368G>A	p.Arg456=	p.R456=	ENST00000411463		456	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47826.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGGCTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21678:SF3,hmmpanther:PTHR21678	.	.	ENSP00000265806	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265806	Transcript	.	.	ENSG00000104679	27329	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HC1_HUMAN	R3HCC1	HGNC	E5RIQ4_HUMAN,E5RIK1_HUMAN,E5RHX3_HUMAN	.	UPI00001C1E99	SNV	R3HCC1,synonymous_variant,p.%3D,ENST00000411463,;R3HCC1,synonymous_variant,p.%3D,ENST00000265806,;R3HCC1,synonymous_variant,p.%3D,ENST00000518454,;R3HCC1,downstream_gene_variant,,ENST00000520480,;LOXL2,downstream_gene_variant,,ENST00000389131,;R3HCC1,downstream_gene_variant,,ENST00000519952,;R3HCC1,non_coding_transcript_exon_variant,,ENST00000522012,;R3HCC1,downstream_gene_variant,,ENST00000523720,;	1516	150	106	SUCCESS
PCMTD1	115294	.	GRCh37	8	52733114	52733114	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1310786855	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	11	73	1	ENST00000360540.5:c.871G>T	p.Val291Leu	p.V291L	ENST00000360540	NM_052937.3	291	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS6148.1	871	RADIA|VARSCANS	.	ACCCACAAATA	NONE	.	.	hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335	.	.	ENSP00000353739	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360540	Transcript	.	.	ENSG00000168300	30483	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.7)	.	PCMD1_HUMAN	PCMTD1	HGNC	.	.	UPI0000047CC0	SNV	PCMTD1,missense_variant,p.Val215Leu,ENST00000544451,;PCMTD1,missense_variant,p.Val291Leu,ENST00000522514,;PCMTD1,missense_variant,p.Val291Leu,ENST00000360540,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;	1278	74	101	SUCCESS
JPH1	56704	.	GRCh37	8	75157174	75157174	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	36	60	0	ENST00000342232.4:c.1495A>G	p.Arg499Gly	p.R499G	ENST00000342232	NM_020647.2	499	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6217.1	1495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCTTTTGT	NONE	.	.	hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	.	.	ENSP00000344488	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.29)	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	SNV	JPH1,missense_variant,p.Arg499Gly,ENST00000342232,;JPH1,upstream_gene_variant,,ENST00000518195,;JPH1,3_prime_UTR_variant,,ENST00000519947,;	1536	60	130	SUCCESS
ZNF462	58499	.	GRCh37	9	109691842	109691842	+	synonymous_variant	Silent	SNP	C	C	T	rs750506205	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	54	0	ENST00000277225.5:c.5649C>T	p.Asn1883=	p.N1883=	ENST00000277225		1883	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS35096.1	5649	MUTECT|MUSE	.	GGCAACGGCCC	NONE	byFrequency	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,Superfamily_domains:SSF57667	.	.	ENSP00000277225	.	3/13	.	.	.	.	.	.	.	.	rs750506205	3/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,synonymous_variant,p.%3D,ENST00000277225,;ZNF462,synonymous_variant,p.%3D,ENST00000457913,;ZNF462,synonymous_variant,p.%3D,ENST00000441147,;ZNF462,synonymous_variant,p.%3D,ENST00000374686,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000542028,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;	5938	54	92	SUCCESS
CTNNAL1	8727	.	GRCh37	9	111761413	111761413	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751084523	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	69	82	0	ENST00000325551.4:c.265A>G	p.Ile89Val	p.I89V	ENST00000325551	NM_003798.2	89	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6775.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTATAGCTT	NONE	.	.	hmmpanther:PTHR18914:SF8,hmmpanther:PTHR18914,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220	.	.	ENSP00000320434	.	2/19	.	.	.	.	.	.	.	.	rs751084523	2/19	PASS	ENST00000325551	Transcript	.	.	ENSG00000119326	2512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CTNL1_HUMAN	CTNNAL1	HGNC	Q5JTQ9_HUMAN	.	UPI0000070AF1	SNV	CTNNAL1,missense_variant,p.Ile89Val,ENST00000374593,;CTNNAL1,missense_variant,p.Ile89Val,ENST00000325580,;CTNNAL1,missense_variant,p.Ile89Val,ENST00000325551,;CTNNAL1,missense_variant,p.Ile89Val,ENST00000374595,;	352	82	158	SUCCESS
SETX	23064	.	GRCh37	9	135156934	135156934	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs745338382	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	52	101	0	ENST00000224140.5:c.6574C>G	p.Leu2192Val	p.L2192V	ENST00000224140	NM_015046.5	2192	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6947.1	6574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAGAGTCT	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336,Gene3D:3.40.50.300,Pfam_domain:PF13086,Superfamily_domains:SSF52540	.	.	ENSP00000224140	.	20/26	.	.	.	.	.	.	.	.	rs745338382	20/26	PASS	ENST00000224140	Transcript	.	.	ENSG00000107290	445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SETX_HUMAN	SETX	HGNC	.	.	UPI0000210D28	SNV	SETX,missense_variant,p.Leu2192Val,ENST00000372169,;SETX,missense_variant,p.Leu434Val,ENST00000436441,;SETX,missense_variant,p.Leu2192Val,ENST00000393220,;SETX,missense_variant,p.Leu2192Val,ENST00000224140,;SETX,downstream_gene_variant,,ENST00000474172,;SETX,upstream_gene_variant,,ENST00000464133,;	6757	101	137	SUCCESS
GTF3C4	9329	.	GRCh37	9	135554698	135554698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	64	0	ENST00000372146.4:c.1692G>T	p.Lys564Asn	p.K564N	ENST00000372146	NM_012204.2	564	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS6953.1	1692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGATTGA	NONE	.	.	hmmpanther:PTHR15496,hmmpanther:PTHR15496:SF1	.	.	ENSP00000361219	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000372146	Transcript	.	.	ENSG00000125484	4667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.12)	.	TF3C4_HUMAN	GTF3C4	HGNC	B3KNH2_HUMAN	.	UPI000013CBAB	SNV	GTF3C4,missense_variant,p.Lys564Asn,ENST00000372146,;GTF3C4,downstream_gene_variant,,ENST00000483873,;	2256	64	103	SUCCESS
SMARCA1	6594	.	GRCh37	X	128630827	128630827	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	111	105	0	ENST00000371122.4:c.1526G>A	p.Ser509Asn	p.S509N	ENST00000371122	NM_003069.3	509	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS14612.1	1526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCTGAAA	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF602,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000360163	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000371122	Transcript	.	.	ENSG00000102038	11097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.02)	.	SMCA1_HUMAN	SMARCA1	HGNC	F6TQG2_HUMAN	.	UPI0000161FA6	SNV	SMARCA1,missense_variant,p.Ser509Asn,ENST00000371122,;SMARCA1,missense_variant,p.Ser509Asn,ENST00000371121,;SMARCA1,missense_variant,p.Ser509Asn,ENST00000371123,;	1656	105	140	SUCCESS
PDHA1	5160	.	GRCh37	X	19369497	19369497	+	synonymous_variant	Silent	SNP	C	C	T	rs756138817	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	80	161	0	ENST00000422285.2:c.390C>T	p.Ser130=	p.S130=	ENST00000422285		130	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55380.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCGTCCG	NONE	byFrequency	.	Superfamily_domains:SSF52518,Gene3D:3.40.50.970,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,hmmpanther:PTHR11516:SF28,hmmpanther:PTHR11516	.	.	ENSP00000369134	.	5/12	.	.	.	.	.	.	.	.	rs756138817	5/12	PASS	ENST00000379806	Transcript	.	.	ENSG00000131828	8806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODPA_HUMAN	PDHA1	HGNC	Q9UNV7_HUMAN,Q6LCA3_HUMAN,Q5JPU3_HUMAN,Q5JPU1_HUMAN,A5YPB6_HUMAN	.	UPI0000D4E0D1	SNV	PDHA1,synonymous_variant,p.%3D,ENST00000355808,;PDHA1,synonymous_variant,p.%3D,ENST00000422285,;PDHA1,synonymous_variant,p.%3D,ENST00000423505,;PDHA1,synonymous_variant,p.%3D,ENST00000540249,;PDHA1,synonymous_variant,p.%3D,ENST00000379805,;PDHA1,synonymous_variant,p.%3D,ENST00000379806,;PDHA1,synonymous_variant,p.%3D,ENST00000545074,;PDHA1,upstream_gene_variant,,ENST00000379804,;PDHA1,downstream_gene_variant,,ENST00000417819,;PDHA1,non_coding_transcript_exon_variant,,ENST00000492364,;PDHA1,upstream_gene_variant,,ENST00000481733,;PDHA1,upstream_gene_variant,,ENST00000479146,;	649	161	244	SUCCESS
MIR222	407007	.	GRCh37	X	45606456	45606456	+	mature_miRNA_variant	RNA	SNP	T	T	C	rs782662324	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	24	19	0	ENST00000384992.1:n.75A>G		p.*25*	ENST00000384992				0	.	.	.	.	.	C	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATGTAGC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs782662324	1/1	PASS	ENST00000384992	Transcript	.	.	ENSG00000207725	31602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR222	HGNC	.	.	.	SNV	MIR222,non_coding_transcript_exon_variant,,ENST00000384992,;RP6-99M1.2,intron_variant,,ENST00000602461,;MIR221,upstream_gene_variant,,ENST00000385135,;	75	19	29	SUCCESS
DMRTC1	63947	.	GRCh37	X	72095553	72095553	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	14	0	ENST00000373529.5:c.-25C>T		p.*9*	ENST00000373529	NM_033053.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35333.2	.	RADIA|VARSCANS	.	GCCAGGTGTCT	NONE	.	.	.	.	.	ENSP00000362629	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373529	Transcript	.	.	ENSG00000159123	13910	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMRTC_HUMAN	DMRTC1	HGNC	A6QRF2_HUMAN	.	UPI00001D7BE5	SNV	DMRTC1,5_prime_UTR_variant,,ENST00000373529,;DMRTC1,5_prime_UTR_variant,,ENST00000373530,;DMRTC1,5_prime_UTR_variant,,ENST00000290273,;DMRTC1,5_prime_UTR_variant,,ENST00000483816,;	256	14	17	SUCCESS
DDX50	79009	.	GRCh37	10	70673836	70673836	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	52	149	0	ENST00000373585.3:c.965C>T	p.Thr322Ile	p.T322I	ENST00000373585	NM_024045.1	322	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7283.1	965	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACTTTAC	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000362687	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.03)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Thr322Ile,ENST00000373585,;RNU6-571P,upstream_gene_variant,,ENST00000384128,;DDX50,non_coding_transcript_exon_variant,,ENST00000460470,;DDX50,downstream_gene_variant,,ENST00000471475,;DDX50,downstream_gene_variant,,ENST00000483593,;	1072	149	134	SUCCESS
SIK2	23235	.	GRCh37	11	111574147	111574147	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	50	0	ENST00000304987.3:c.948G>A		p.X316_splice	ENST00000304987	NM_015191.1	316	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS8347.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGAGGTAAA	NONE	.	.	PROSITE_profiles:PS50030,hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,Gene3D:1.10.8.10,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	SNV	SIK2,synonymous_variant,p.%3D,ENST00000304987,;	1121	50	41	SUCCESS
PLET1	349633	.	GRCh37	11	112126290	112126290	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	69	0	ENST00000338832.2:c.207C>T	p.Ser69=	p.S69=	ENST00000338832	NM_001145024.1	69	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	.	207	RADIA|MUTECT|MUSE|VARSCANS	.	TAGACGCTGTC	NONE	.	.	hmmpanther:PTHR22527	.	.	ENSP00000341412	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000338832	Transcript	.	.	ENSG00000188771	30053	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLET1_HUMAN	PLET1	HGNC	.	.	UPI000023753A	SNV	PLET1,synonymous_variant,p.%3D,ENST00000338832,;PLET1,synonymous_variant,p.%3D,ENST00000527122,;AP002884.2,upstream_gene_variant,,ENST00000595053,;PTS,intron_variant,,ENST00000531673,;	478	69	64	SUCCESS
SCN3B	55800	.	GRCh37	11	123524586	123524586	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	34	0	ENST00000299333.3:c.-25-52C>T		p.*9*	ENST00000299333	NM_001040151.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8442.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCGAGGAA	NONE	.	.	.	.	.	ENSP00000376523	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000392770	Transcript	.	.	ENSG00000166257	20665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCN3B_HUMAN	SCN3B	HGNC	E9PQS8_HUMAN,E9PJP6_HUMAN	.	UPI00000341C8	SNV	SCN3B,5_prime_UTR_variant,,ENST00000392770,;SCN3B,intron_variant,,ENST00000299333,;SCN3B,intron_variant,,ENST00000530277,;SCN3B,intron_variant,,ENST00000528267,;SCN3B,intron_variant,,ENST00000527836,;	727	34	33	SUCCESS
FLI1	2313	.	GRCh37	11	128628065	128628065	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200865469	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	64	0	ENST00000527786.2:c.74C>G	p.Ala25Gly	p.A25G	ENST00000527786	NM_001271010.1	25	gCg/gGg	0	T:0.0016	T:0.003	.	T:0	.	G	A/G	protein_coding	YES	CCDS44768.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCGGCAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF180	T:0	T:0	ENSP00000433488	T:0	2/9	.	.	.	.	.	.	.	.	rs200865469	2/9	PASS	ENST00000527786	Transcript	.	T:0.0008	ENSG00000151702	3749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	T:0	tolerated(0.15)	.	.	FLI1	HGNC	.	.	UPI000012A972	SNV	FLI1,missense_variant,p.Ala25Gly,ENST00000527786,;FLI1,5_prime_UTR_variant,,ENST00000525560,;FLI1,5_prime_UTR_variant,,ENST00000527767,;FLI1,5_prime_UTR_variant,,ENST00000534087,;FLI1,5_prime_UTR_variant,,ENST00000344954,;FLI1,missense_variant,p.Ala25Gly,ENST00000429175,;FLI1,5_prime_UTR_variant,,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000608055,;	563	64	62	SUCCESS
CARS	0	.	GRCh37	11	3039725	3039725	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	60	0	ENST00000380525.4:c.1542G>T	p.Leu514=	p.L514=	ENST00000380525	NM_001194997.1	514	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS41600.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCAGCCG	NONE	.	.	HAMAP:MF_00041,hmmpanther:PTHR10890,hmmpanther:PTHR10890:SF3,Pfam_domain:PF01406,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00435,Superfamily_domains:SSF52374	.	.	ENSP00000369897	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000380525	Transcript	.	.	ENSG00000110619	1493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYCC_HUMAN	CARS	HGNC	.	.	UPI00004C4152	SNV	CARS,synonymous_variant,p.%3D,ENST00000278224,;CARS,synonymous_variant,p.%3D,ENST00000397111,;CARS,synonymous_variant,p.%3D,ENST00000380525,;CARS,synonymous_variant,p.%3D,ENST00000397114,;CARS,synonymous_variant,p.%3D,ENST00000401769,;CARS,downstream_gene_variant,,ENST00000465240,;CARS,3_prime_UTR_variant,,ENST00000529772,;CARS,3_prime_UTR_variant,,ENST00000531387,;CARS,non_coding_transcript_exon_variant,,ENST00000526890,;	1612	60	69	SUCCESS
CTNND1	1500	.	GRCh37	11	57559030	57559030	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	126	0	ENST00000399050.4:c.80C>T	p.Thr27Ile	p.T27I	ENST00000399050	NM_001085458.1	27	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS44604.1	80	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACCCGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372	.	.	ENSP00000382004	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.894)	.	deleterious(0)	.	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,missense_variant,p.Thr27Ile,ENST00000361796,;CTNND1,missense_variant,p.Thr27Ile,ENST00000428599,;CTNND1,missense_variant,p.Thr27Ile,ENST00000529919,;CTNND1,missense_variant,p.Thr27Ile,ENST00000361391,;CTNND1,missense_variant,p.Thr27Ile,ENST00000399050,;CTNND1,missense_variant,p.Thr27Ile,ENST00000526938,;CTNND1,missense_variant,p.Thr27Ile,ENST00000399039,;CTNND1,missense_variant,p.Thr27Ile,ENST00000360682,;CTNND1,missense_variant,p.Thr27Ile,ENST00000524630,;CTNND1,missense_variant,p.Thr27Ile,ENST00000358694,;CTNND1,missense_variant,p.Thr27Ile,ENST00000361332,;CTNND1,5_prime_UTR_variant,,ENST00000526357,;CTNND1,5_prime_UTR_variant,,ENST00000532649,;CTNND1,5_prime_UTR_variant,,ENST00000529873,;CTNND1,5_prime_UTR_variant,,ENST00000532844,;CTNND1,5_prime_UTR_variant,,ENST00000530068,;CTNND1,5_prime_UTR_variant,,ENST00000530748,;CTNND1,5_prime_UTR_variant,,ENST00000528621,;CTNND1,5_prime_UTR_variant,,ENST00000534579,;CTNND1,5_prime_UTR_variant,,ENST00000529526,;CTNND1,intron_variant,,ENST00000533189,;CTNND1,intron_variant,,ENST00000532787,;CTNND1,intron_variant,,ENST00000533667,;CTNND1,intron_variant,,ENST00000528232,;CTNND1,intron_variant,,ENST00000531014,;CTNND1,intron_variant,,ENST00000532463,;CTNND1,intron_variant,,ENST00000415361,;CTNND1,intron_variant,,ENST00000530094,;CTNND1,intron_variant,,ENST00000529986,;CTNND1,intron_variant,,ENST00000527467,;CTNND1,intron_variant,,ENST00000532245,;CTNND1,intron_variant,,ENST00000426142,;CTNND1,intron_variant,,ENST00000526772,;CTNND1,intron_variant,,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000524579,;CTNND1,upstream_gene_variant,,ENST00000534647,;TMX2-CTNND1,3_prime_UTR_variant,,ENST00000528395,;RP11-691N7.6,3_prime_UTR_variant,,ENST00000531074,;	616	126	130	SUCCESS
MS4A2	2206	.	GRCh37	11	59857213	59857213	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	55	0	ENST00000278888.3:c.105A>G	p.Ser35=	p.S35=	ENST00000278888	NM_000139.4	35	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7980.1	105	MUTECT|SOMATICSNIPER|VARSCANS	.	TCTTCAGGCAG	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9	.	.	ENSP00000278888	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,synonymous_variant,p.%3D,ENST00000524868,;MS4A2,synonymous_variant,p.%3D,ENST00000278888,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	207	55	40	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65359745	65359745	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	20	0	ENST00000309295.4:c.4544G>T	p.Ser1515Ile	p.S1515I	ENST00000309295	NM_001099409.1	1515	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS44649.1	4544	MUTECT|MUSE	.	GTTGAGCCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069	.	.	ENSP00000312671	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	SNV	EHBP1L1,missense_variant,p.Ser1515Ile,ENST00000309295,;EHBP1L1,missense_variant,p.Ser120Ile,ENST00000533364,;AP001362.1,missense_variant,p.Ala64Asp,ENST00000597463,;KCNK7,downstream_gene_variant,,ENST00000530380,;KCNK7,downstream_gene_variant,,ENST00000342202,;KCNK7,downstream_gene_variant,,ENST00000340313,;KCNK7,downstream_gene_variant,,ENST00000525254,;KCNK7,downstream_gene_variant,,ENST00000394216,;KCNK7,downstream_gene_variant,,ENST00000394217,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000529596,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000529056,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000527214,;	4809	20	21	SUCCESS
DDX11	1663	.	GRCh37	12	31238054	31238054	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772152833	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	52	184	0	ENST00000545668.1:c.632C>T	p.Ala211Val	p.A211V	ENST00000545668	NM_001257144.1	211	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44856.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCGAGCA	NONE	byFrequency	.	PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488	.	.	ENSP00000384703	.	5/27	.	.	.	.	.	.	.	.	rs772152833	5/27	PASS	ENST00000407793	Transcript	.	.	ENSG00000013573	2736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.35)	.	DDX11_HUMAN	DDX11	HGNC	F5GXJ8_HUMAN	.	UPI000006F88F	SNV	DDX11,missense_variant,p.Ala182Val,ENST00000438391,;DDX11,missense_variant,p.Ala211Val,ENST00000350437,;DDX11,missense_variant,p.Ala185Val,ENST00000415475,;DDX11,missense_variant,p.Ala211Val,ENST00000542838,;DDX11,missense_variant,p.Ala211Val,ENST00000545668,;DDX11,missense_variant,p.Ala185Val,ENST00000228264,;DDX11,missense_variant,p.Ala211Val,ENST00000407793,;DDX11,missense_variant,p.Ala211Val,ENST00000251758,;DDX11,intron_variant,,ENST00000544652,;DDX11,downstream_gene_variant,,ENST00000535317,;DDX11,upstream_gene_variant,,ENST00000545717,;DDX11,missense_variant,p.Ala211Val,ENST00000435753,;DDX11,missense_variant,p.Ala211Val,ENST00000542129,;DDX11,missense_variant,p.Ala185Val,ENST00000540935,;DDX11,missense_variant,p.Ala211Val,ENST00000539049,;DDX11,3_prime_UTR_variant,,ENST00000542244,;DDX11,non_coding_transcript_exon_variant,,ENST00000535158,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,intron_variant,,ENST00000538345,;DDX11,downstream_gene_variant,,ENST00000543756,;DDX11,upstream_gene_variant,,ENST00000542242,;DDX11,upstream_gene_variant,,ENST00000543026,;	883	184	163	SUCCESS
NELL2	4753	.	GRCh37	12	45001007	45001007	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs763712329	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	21	223	0	ENST00000429094.2:c.1608T>G	p.Ile536Met	p.I536M	ENST00000429094	NM_001145108.1	536	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS44863.1	1758	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCAATACA	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,PROSITE_profiles:PS50026	.	.	ENSP00000416341	.	16/21	.	.	.	.	.	.	.	.	rs763712329	16/21	PASS	ENST00000437801	Transcript	.	.	ENSG00000184613	7751	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.529)	.	deleterious(0.01)	.	NELL2_HUMAN	NELL2	HGNC	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN	.	UPI000191537D	SNV	NELL2,missense_variant,p.Ile559Met,ENST00000333837,;NELL2,missense_variant,p.Ile535Met,ENST00000549027,;NELL2,missense_variant,p.Ile586Met,ENST00000437801,;NELL2,missense_variant,p.Ile535Met,ENST00000551601,;NELL2,missense_variant,p.Ile536Met,ENST00000429094,;NELL2,missense_variant,p.Ile536Met,ENST00000452445,;NELL2,missense_variant,p.Ile535Met,ENST00000395487,;NELL2,downstream_gene_variant,,ENST00000550313,;NELL2,non_coding_transcript_exon_variant,,ENST00000549668,;	2130	223	213	SUCCESS
KCNA1	3736	.	GRCh37	12	5021016	5021016	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1359358525	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	73	0	ENST00000382545.3:c.472G>C	p.Glu158Gln	p.E158Q	ENST00000382545	NM_000217.2	158	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS8535.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGAGTAC	NONE	.	.	Prints_domain:PR01496,Gene3D:1.20.120.350,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,missense_variant,p.Glu158Gln,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	1579	74	68	SUCCESS
BCDIN3D	144233	.	GRCh37	12	50236859	50236859	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	81	0	ENST00000333924.4:c.12C>T	p.Pro4=	p.P4=	ENST00000333924	NM_181708.2	4	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8790.1	12	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTGGGCAC	NONE	.	.	.	.	.	ENSP00000335201	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000333924	Transcript	.	.	ENSG00000186666	27050	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BN3D2_HUMAN	BCDIN3D	HGNC	.	.	UPI0000160802	SNV	BCDIN3D,synonymous_variant,p.%3D,ENST00000333924,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;	54	81	94	SUCCESS
RPL41	6171	.	GRCh37	12	56510496	56510496	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	83	0	ENST00000501597.3:c.-14+53C>T		p.*5*	ENST00000501597	NM_021104.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44919.1	.	MUTECT|MUSE	.	GACATCTGACC	NONE	.	.	.	.	.	ENSP00000449026	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000546591	Transcript	.	.	ENSG00000229117	10354	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RL41_HUMAN	RPL41	HGNC	.	.	UPI0000000DDF	SNV	RPL41,5_prime_UTR_variant,,ENST00000546591,;RPL41,intron_variant,,ENST00000501597,;ZC3H10,upstream_gene_variant,,ENST00000257940,;ZC3H10,upstream_gene_variant,,ENST00000546903,;PA2G4,downstream_gene_variant,,ENST00000552766,;ZC3H10,upstream_gene_variant,,ENST00000551880,;PA2G4,downstream_gene_variant,,ENST00000303305,;ESYT1,upstream_gene_variant,,ENST00000551790,;ZC3H10,upstream_gene_variant,,ENST00000552345,;RP11-603J24.5,downstream_gene_variant,,ENST00000549438,;RP11-603J24.5,downstream_gene_variant,,ENST00000550947,;RP11-603J24.6,downstream_gene_variant,,ENST00000550840,;RP11-603J24.17,upstream_gene_variant,,ENST00000548595,;RPL41,intron_variant,,ENST00000358888,;RPL41,intron_variant,,ENST00000546485,;RPL41,upstream_gene_variant,,ENST00000546654,;ZC3H10,upstream_gene_variant,,ENST00000549973,;RPL41,upstream_gene_variant,,ENST00000552314,;	127	83	96	SUCCESS
AVPR1A	552	.	GRCh37	12	63544382	63544382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	54	0	ENST00000299178.2:c.235A>G	p.Thr79Ala	p.T79A	ENST00000299178	NM_000706.4	79	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8965.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGTCCGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF17,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00752	.	.	ENSP00000299178	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000299178	Transcript	.	.	ENSG00000166148	895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	tolerated(0.1)	.	V1AR_HUMAN	AVPR1A	HGNC	.	.	UPI0000050439	SNV	AVPR1A,missense_variant,p.Thr79Ala,ENST00000299178,;AVPR1A,upstream_gene_variant,,ENST00000550940,;	341	54	49	SUCCESS
LEMD3	23592	.	GRCh37	12	65564347	65564347	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	73	0	ENST00000308330.2:c.971C>T	p.Ala324Val	p.A324V	ENST00000308330	NM_014319.4	324	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8972.1	971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCTGCCG	NONE	.	.	hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428	.	.	ENSP00000308369	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000308330	Transcript	.	.	ENSG00000174106	28887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious_low_confidence(0.02)	.	MAN1_HUMAN	LEMD3	HGNC	B4DI45_HUMAN	.	UPI000012EB75	SNV	LEMD3,missense_variant,p.Ala324Val,ENST00000308330,;LEMD3,intron_variant,,ENST00000541171,;	997	73	76	SUCCESS
PLEKHG7	440107	.	GRCh37	12	93139255	93139255	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	80	0	ENST00000344636.3:c.203A>G	p.Tyr68Cys	p.Y68C	ENST00000344636	NM_001004330.2	68	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31873.1	203	MUTECT|MUSE|VARSCANS	.	GCAGTATTTCC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF8,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000344961	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000344636	Transcript	.	.	ENSG00000187510	33829	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	tolerated(0.12)	.	PKHG7_HUMAN	PLEKHG7	HGNC	.	.	UPI00001C1015	SNV	PLEKHG7,missense_variant,p.Tyr68Cys,ENST00000344636,;PLEKHG7,missense_variant,p.Tyr68Cys,ENST00000549856,;	387	80	64	SUCCESS
CCDC41	0	.	GRCh37	12	94763668	94763668	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	34	0	ENST00000397809.5:c.1048+30C>A		p.*350*	ENST00000397809	NM_016122.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41820.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCAGCA	NONE	.	.	.	.	.	ENSP00000380911	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397809	Transcript	.	.	ENSG00000173588	17966	.	.	MODIFIER	9/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CCDC41	HGNC	J3KNW7_HUMAN,H0YHH5_HUMAN	.	UPI0000D4BD6F	SNV	CCDC41,3_prime_UTR_variant,,ENST00000547575,;CCDC41,intron_variant,,ENST00000397807,;CCDC41,intron_variant,,ENST00000397809,;CCDC41,intron_variant,,ENST00000339839,;CCDC41,downstream_gene_variant,,ENST00000549352,;CCDC41,intron_variant,,ENST00000547232,;	.	34	34	SUCCESS
COL4A2	1284	.	GRCh37	13	111132579	111132579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	63	0	ENST00000360467.5:c.2600A>G	p.Asp867Gly	p.D867G	ENST00000360467	NM_001846.2	867	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS41907.1	2600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGATAGAG	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	.	.	ENSP00000353654	.	31/48	.	.	.	.	.	.	.	.	.	31/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.606)	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,missense_variant,p.Asp867Gly,ENST00000360467,;COL4A2,non_coding_transcript_exon_variant,,ENST00000483683,;	2906	63	38	SUCCESS
USPL1	10208	.	GRCh37	13	31195968	31195968	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	22	258	0	ENST00000255304.4:c.167A>G	p.Lys56Arg	p.K56R	ENST00000255304	NM_005800.4	56	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9336.1	167	RADIA|MUTECT|MUSE|VARSCANS	.	GTTAAAAGCCT	NONE	.	.	hmmpanther:PTHR15294	.	.	ENSP00000255304	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000255304	Transcript	.	.	ENSG00000132952	20294	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.903)	.	tolerated(0.12)	.	USPL1_HUMAN	USPL1	HGNC	.	.	UPI000013CEA3	SNV	USPL1,missense_variant,p.Lys56Arg,ENST00000255304,;HMGB1,upstream_gene_variant,,ENST00000405805,;USPL1,non_coding_transcript_exon_variant,,ENST00000465952,;	509	258	185	SUCCESS
KPNA3	3839	.	GRCh37	13	50299635	50299635	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	49	0	ENST00000261667.3:c.386del	p.Pro129LeufsTer11	p.P129Lfs*11	ENST00000261667	NM_002267.3	129	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS9421.1	386	VARSCANI*|PINDEL	.	AATGAAGGACTG	NONE	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23316:SF6,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000261667	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000261667	Transcript	.	.	ENSG00000102753	6396	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMA4_HUMAN	KPNA3	HGNC	.	.	UPI000012D5F9	deletion	KPNA3,frameshift_variant,p.Pro129LeufsTer11,ENST00000261667,;	801	49	33	SUCCESS
LMO7	4008	.	GRCh37	13	76397850	76397850	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs374411902	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	60	132	0	ENST00000465261.2:c.2091T>A	p.Asp697Glu	p.D697E	ENST00000465261	NM_015842.2	697	gaT/gaA	0	C:0.0002	.	.	.	.	A	D/E	protein_coding	YES	CCDS53876.1	2091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGTGAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4	.	C:0	ENSP00000433352	.	12/27	.	.	.	.	.	.	.	.	rs374411902	12/27	PASS	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.67)	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Asp982Glu,ENST00000357063,;LMO7,missense_variant,p.Asp697Glu,ENST00000321797,;LMO7,missense_variant,p.Asp547Glu,ENST00000526202,;LMO7,missense_variant,p.Asp697Glu,ENST00000465261,;LMO7,missense_variant,p.Asp2Glu,ENST00000524651,;LMO7,missense_variant,p.Asp648Glu,ENST00000341547,;LMO7,missense_variant,p.Asp982Glu,ENST00000377534,;LMO7,missense_variant,p.Asp596Glu,ENST00000377499,;LMO7,missense_variant,p.Asp606Glu,ENST00000447038,;LMO7,downstream_gene_variant,,ENST00000489941,;LMO7,downstream_gene_variant,,ENST00000525373,;LMO7,non_coding_transcript_exon_variant,,ENST00000485987,;LMO7,downstream_gene_variant,,ENST00000532785,;LMO7,downstream_gene_variant,,ENST00000532377,;	2851	132	116	SUCCESS
HNRNPC	3183	.	GRCh37	14	21702344	21702344	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	64	0	ENST00000420743.2:c.9C>T	p.Ser3=	p.S3=	ENST00000420743		3	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS41915.1	9	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTTGCTGGC	NONE	.	.	PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968	.	.	ENSP00000319690	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000320084	Transcript	.	.	ENSG00000092199	5035	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HNRPC_HUMAN	HNRNPC	HGNC	G3V575_HUMAN,G3V555_HUMAN,G3V4M8_HUMAN,G3V2H6_HUMAN	.	UPI000013C6E4	SNV	HNRNPC,synonymous_variant,p.%3D,ENST00000554969,;HNRNPC,synonymous_variant,p.%3D,ENST00000555883,;HNRNPC,synonymous_variant,p.%3D,ENST00000556628,;HNRNPC,synonymous_variant,p.%3D,ENST00000336053,;HNRNPC,synonymous_variant,p.%3D,ENST00000556513,;HNRNPC,synonymous_variant,p.%3D,ENST00000553753,;HNRNPC,synonymous_variant,p.%3D,ENST00000556897,;HNRNPC,synonymous_variant,p.%3D,ENST00000553300,;HNRNPC,synonymous_variant,p.%3D,ENST00000556142,;HNRNPC,synonymous_variant,p.%3D,ENST00000555176,;HNRNPC,synonymous_variant,p.%3D,ENST00000555309,;HNRNPC,synonymous_variant,p.%3D,ENST00000554383,;HNRNPC,synonymous_variant,p.%3D,ENST00000555137,;HNRNPC,synonymous_variant,p.%3D,ENST00000554455,;HNRNPC,synonymous_variant,p.%3D,ENST00000554891,;HNRNPC,synonymous_variant,p.%3D,ENST00000555914,;HNRNPC,synonymous_variant,p.%3D,ENST00000557201,;HNRNPC,synonymous_variant,p.%3D,ENST00000557336,;HNRNPC,synonymous_variant,p.%3D,ENST00000420743,;HNRNPC,synonymous_variant,p.%3D,ENST00000555215,;HNRNPC,synonymous_variant,p.%3D,ENST00000320084,;HNRNPC,synonymous_variant,p.%3D,ENST00000430246,;HNRNPC,synonymous_variant,p.%3D,ENST00000449098,;HNRNPC,synonymous_variant,p.%3D,ENST00000557768,;HNRNPC,synonymous_variant,p.%3D,ENST00000556226,;HNRNPC,intron_variant,,ENST00000554539,;HNRNPC,upstream_gene_variant,,ENST00000557157,;HNRNPC,synonymous_variant,p.%3D,ENST00000557442,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000553614,;HNRNPC,upstream_gene_variant,,ENST00000554417,;	249	64	66	SUCCESS
PABPN1	8106	.	GRCh37	14	23793540	23793540	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	13	0	ENST00000216727.4:c.881+42G>C		p.*294*	ENST00000216727	NM_004643.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9592.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTGAGCCC	NONE	.	.	.	.	.	ENSP00000216727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216727	Transcript	.	.	ENSG00000100836	8565	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP2_HUMAN	PABPN1	HGNC	G3V4T2_HUMAN	.	UPI000006F6E7	SNV	PABPN1,splice_region_variant,,ENST00000555295,;PABPN1,3_prime_UTR_variant,,ENST00000557702,;PABPN1,3_prime_UTR_variant,,ENST00000397276,;BCL2L2-PABPN1,intron_variant,,ENST00000557008,;BCL2L2-PABPN1,intron_variant,,ENST00000553781,;PABPN1,intron_variant,,ENST00000556821,;PABPN1,intron_variant,,ENST00000216727,;AL049829.1,upstream_gene_variant,,ENST00000594872,;BCL2L2-PABPN1,downstream_gene_variant,,ENST00000556100,;PABPN1,non_coding_transcript_exon_variant,,ENST00000553960,;PABPN1,downstream_gene_variant,,ENST00000556809,;PABPN1,downstream_gene_variant,,ENST00000554062,;	.	13	18	SUCCESS
PNN	5411	.	GRCh37	14	39648641	39648641	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1474333256	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	309	33	359	0	ENST00000216832.4:c.768A>G	p.Ile256Met	p.I256M	ENST00000216832	NM_002687.3	256	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS9671.1	768	MUTECT|MUSE|VARSCANS	.	CTAATAGAAGA	NONE	.	.	Pfam_domain:PF04696,hmmpanther:PTHR12707	.	.	ENSP00000216832	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000216832	Transcript	.	.	ENSG00000100941	9162	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.135)	.	tolerated(0.19)	.	PININ_HUMAN	PNN	HGNC	.	.	UPI000013C70D	SNV	PNN,missense_variant,p.Ile256Met,ENST00000216832,;PNN,downstream_gene_variant,,ENST00000553331,;PNN,downstream_gene_variant,,ENST00000556530,;RP11-407N17.4,upstream_gene_variant,,ENST00000556537,;PNN,non_coding_transcript_exon_variant,,ENST00000557680,;PNN,non_coding_transcript_exon_variant,,ENST00000554902,;PNN,downstream_gene_variant,,ENST00000554117,;	835	359	342	SUCCESS
SYNE2	23224	.	GRCh37	14	64492109	64492109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	42	0	ENST00000344113.4:c.6222G>A	p.Met2074Ile	p.M2074I	ENST00000344113	NM_015180.4	2074	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9761.2	6222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGCCACT	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,SMART_domains:SM00150	.	.	ENSP00000350719	.	41/116	.	.	.	.	.	.	.	.	.	41/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Met2074Ile,ENST00000554584,;SYNE2,missense_variant,p.Met2074Ile,ENST00000358025,;SYNE2,missense_variant,p.Met2074Ile,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	6452	42	30	SUCCESS
AKAP5	9495	.	GRCh37	14	64935781	64935781	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	99	0	ENST00000320636.5:c.669T>G	p.Ile223Met	p.I223M	ENST00000320636		223	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS9764.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATTCAAAC	NONE	.	.	hmmpanther:PTHR15182:SF0,hmmpanther:PTHR15182	.	.	ENSP00000378207	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394718	Transcript	.	.	ENSG00000179841	375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.53)	.	deleterious(0)	.	AKAP5_HUMAN	AKAP5	HGNC	.	.	UPI0000140927	SNV	AKAP5,missense_variant,p.Ile223Met,ENST00000394718,;AKAP5,missense_variant,p.Ile223Met,ENST00000320636,;ZBTB25,intron_variant,,ENST00000555424,;ZBTB25,intron_variant,,ENST00000555220,;	1047	99	68	SUCCESS
SMEK1	0	.	GRCh37	14	91927808	91927808	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	12	135	0	ENST00000554943.1:c.2308G>T	p.Gly770Ter	p.G770*	ENST00000554943		770	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS9895.1	2269	RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23318:SF3,hmmpanther:PTHR23318	.	.	ENSP00000450864	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,stop_gained,p.Gly757Ter,ENST00000554684,;SMEK1,stop_gained,p.Gly531Ter,ENST00000555462,;SMEK1,stop_gained,p.Gly531Ter,ENST00000428424,;SMEK1,stop_gained,p.Gly757Ter,ENST00000337238,;SMEK1,stop_gained,p.Gly770Ter,ENST00000554943,;SMEK1,non_coding_transcript_exon_variant,,ENST00000555718,;SMEK1,3_prime_UTR_variant,,ENST00000554308,;SMEK1,non_coding_transcript_exon_variant,,ENST00000557382,;SMEK1,downstream_gene_variant,,ENST00000554390,;	2766	135	96	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40268649	40268649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	11	127	0	ENST00000263791.5:c.1853T>C	p.Val618Ala	p.V618A	ENST00000263791	NM_001013703.2	618	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS42016.1	1853	MUTECT|MUSE	.	CGCAGTGAAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000660,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263791	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Val424Ala,ENST00000560855,;EIF2AK4,missense_variant,p.Val618Ala,ENST00000382727,;EIF2AK4,missense_variant,p.Val618Ala,ENST00000263791,;EIF2AK4,downstream_gene_variant,,ENST00000559624,;	1896	127	130	SUCCESS
MGA	23269	.	GRCh37	15	42059132	42059132	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	87	0	ENST00000219905.7:c.8852C>G	p.Thr2951Ser	p.T2951S	ENST00000219905	NM_001164273.1	2951	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS55959.1	8852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATACTTCTG	NONE	.	.	.	.	.	ENSP00000219905	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.08)	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,missense_variant,p.Thr2951Ser,ENST00000219905,;MGA,missense_variant,p.Thr2951Ser,ENST00000570161,;MGA,missense_variant,p.Thr2912Ser,ENST00000389936,;MGA,missense_variant,p.Thr2742Ser,ENST00000545763,;MGA,missense_variant,p.Thr2742Ser,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000564190,;RP11-107F6.3,downstream_gene_variant,,ENST00000562063,;RP11-107F6.3,downstream_gene_variant,,ENST00000607504,;MGA,downstream_gene_variant,,ENST00000568255,;	9033	87	89	SUCCESS
SEMA6D	80031	.	GRCh37	15	48063719	48063719	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774623143	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	45	144	0	ENST00000316364.5:c.2959G>A	p.Val987Ile	p.V987I	ENST00000316364	NM_153618.1	987	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32225.1	2959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGTTTTG	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	19/19	.	.	.	.	.	.	.	.	rs774623143	19/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.06)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Val944Ile,ENST00000389432,;SEMA6D,missense_variant,p.Val925Ile,ENST00000537942,;SEMA6D,missense_variant,p.Val925Ile,ENST00000358066,;SEMA6D,missense_variant,p.Val931Ile,ENST00000354744,;SEMA6D,missense_variant,p.Val912Ile,ENST00000389428,;SEMA6D,missense_variant,p.Val987Ile,ENST00000536845,;SEMA6D,missense_variant,p.Val968Ile,ENST00000389433,;SEMA6D,missense_variant,p.Val925Ile,ENST00000558014,;SEMA6D,missense_variant,p.Val987Ile,ENST00000316364,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	3398	144	124	SUCCESS
RNF111	54778	.	GRCh37	15	59381902	59381902	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	38	0	ENST00000557998.1:c.2587A>G	p.Ile863Val	p.I863V	ENST00000557998	NM_001270530.1	863	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS58365.1	2614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACATTTCA	NONE	.	.	hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF1	.	.	ENSP00000453872	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000559209	Transcript	.	.	ENSG00000157450	17384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.02)	.	RN111_HUMAN	RNF111	HGNC	H0YKS2_HUMAN	.	UPI0000EE4EBD	SNV	RNF111,missense_variant,p.Ile872Val,ENST00000434298,;RNF111,missense_variant,p.Ile872Val,ENST00000561186,;RNF111,missense_variant,p.Ile863Val,ENST00000557998,;RNF111,missense_variant,p.Ile863Val,ENST00000348370,;RNF111,missense_variant,p.Ile872Val,ENST00000559209,;RNF111,upstream_gene_variant,,ENST00000560080,;RNF111,non_coding_transcript_exon_variant,,ENST00000560216,;RNF111,non_coding_transcript_exon_variant,,ENST00000560952,;RNF111,downstream_gene_variant,,ENST00000559077,;	2750	38	37	SUCCESS
GLCE	26035	.	GRCh37	15	69561008	69561008	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	71	0	ENST00000261858.2:c.1279A>C	p.Thr427Pro	p.T427P	ENST00000261858	NM_015554.1	427	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS32277.1	1279	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGACCCGT	NONE	.	.	hmmpanther:PTHR13174,Pfam_domain:PF06662	.	.	ENSP00000261858	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261858	Transcript	.	.	ENSG00000138604	17855	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	tolerated(0.27)	.	GLCE_HUMAN	GLCE	HGNC	H0YNP1_HUMAN	.	UPI00001D7785	SNV	GLCE,missense_variant,p.Thr427Pro,ENST00000261858,;GLCE,missense_variant,p.Thr363Pro,ENST00000559420,;GLCE,non_coding_transcript_exon_variant,,ENST00000559500,;	1507	71	85	SUCCESS
ZNF774	342132	.	GRCh37	15	90904318	90904318	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	108	0	ENST00000354377.3:c.1255A>G	p.Ile419Val	p.I419V	ENST00000354377	NM_001004309.2	419	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32330.1	1255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTATTACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF66,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000346348	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354377	Transcript	.	.	ENSG00000196391	33108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.3)	.	ZN774_HUMAN	ZNF774	HGNC	H0YNW6_HUMAN	.	UPI00001A73D8	SNV	ZNF774,missense_variant,p.Ile419Val,ENST00000354377,;ZNF774,intron_variant,,ENST00000379090,;ZNF774,downstream_gene_variant,,ENST00000558586,;ZNF774,downstream_gene_variant,,ENST00000558115,;ZNF774,downstream_gene_variant,,ENST00000560038,;	1441	108	120	SUCCESS
MAN2A2	4122	.	GRCh37	15	91454130	91454130	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767864216	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	51	0	ENST00000360468.3:c.1814A>G	p.Tyr605Cys	p.Y605C	ENST00000360468	NM_006122.2	605	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32332.1	1814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTATCTGG	NONE	.	.	Superfamily_domains:SSF88688,Gene3D:3bvxA02,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	11/22	.	.	.	.	.	.	.	.	rs767864216	11/22	PASS	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.01)	.	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Tyr248Cys,ENST00000557865,;MAN2A2,missense_variant,p.Tyr605Cys,ENST00000360468,;MAN2A2,missense_variant,p.Tyr126Cys,ENST00000558171,;MAN2A2,missense_variant,p.Tyr175Cys,ENST00000560616,;MAN2A2,missense_variant,p.Tyr605Cys,ENST00000559717,;MAN2A2,missense_variant,p.Tyr113Cys,ENST00000431652,;MAN2A2,upstream_gene_variant,,ENST00000560147,;MAN2A2,upstream_gene_variant,,ENST00000557990,;MAN2A2,upstream_gene_variant,,ENST00000430376,;MAN2A2,downstream_gene_variant,,ENST00000559132,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000561240,;MAN2A2,downstream_gene_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000558538,;MAN2A2,missense_variant,p.Tyr605Cys,ENST00000558161,;MAN2A2,missense_variant,p.Tyr605Cys,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560505,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,upstream_gene_variant,,ENST00000561448,;MAN2A2,upstream_gene_variant,,ENST00000561047,;MAN2A2,upstream_gene_variant,,ENST00000559374,;MAN2A2,downstream_gene_variant,,ENST00000561046,;	1832	51	44	SUCCESS
NR2F2	7026	.	GRCh37	15	96877513	96877536	+	inframe_deletion	In_Frame_Del	DEL	GAGGATGCTCTTCAGCGCCGTCGA	GAGGATGCTCTTCAGCGCCGTCGA	-	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	GAGGATGCTCTTCAGCGCCGTCGA	GAGGATGCTCTTCAGCGCCGTCGA	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	84	0	ENST00000394166.3:c.652_675del	p.Arg218_Glu225del	p.R218_E225del	ENST00000394166	NM_021005.3	217	gcGAGGATGCTCTTCAGCGCCGTCGAg/gcg	0	.	.	.	.	.	-	ARMLFSAVE/A	protein_coding	YES	CCDS10375.1	651-674	INDELOCATOR*|PINDEL	.	GGCCGCGAGGATGCTCTTCAGCGCCGTCGAGTGGG	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR01282,Prints_domain:PR00398	.	.	ENSP00000377721	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	deletion	NR2F2,inframe_deletion,p.Arg65_Glu72del,ENST00000453270,;NR2F2,inframe_deletion,p.Arg218_Glu225del,ENST00000394166,;NR2F2,inframe_deletion,p.Arg85_Glu92del,ENST00000421109,;NR2F2,inframe_deletion,p.Arg65_Glu72del,ENST00000394171,;NR2F2,inframe_deletion,p.Arg65_Glu72del,ENST00000559679,;MIR1469,downstream_gene_variant,,ENST00000410719,;	2040-2063	84	71	SUCCESS
KIF22	3835	.	GRCh37	16	29816222	29816222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	43	0	ENST00000160827.4:c.1765C>A	p.Arg589Ser	p.R589S	ENST00000160827	NM_001256269.1	589	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS10653.1	1765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCGCCAA	NONE	.	.	hmmpanther:PTHR24115:SF171,hmmpanther:PTHR24115,Superfamily_domains:SSF47781	.	.	ENSP00000160827	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000160827	Transcript	.	.	ENSG00000079616	6391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	KIF22_HUMAN	KIF22	HGNC	Q14985_HUMAN,H3BTH5_HUMAN,H3BQB9_HUMAN	.	UPI00000012C0	SNV	KIF22,missense_variant,p.Arg535Ser,ENST00000569382,;KIF22,missense_variant,p.Arg521Ser,ENST00000561482,;KIF22,missense_variant,p.Arg521Ser,ENST00000400751,;KIF22,missense_variant,p.Arg589Ser,ENST00000160827,;MAZ,upstream_gene_variant,,ENST00000562594,;MAZ,upstream_gene_variant,,ENST00000545521,;MAZ,upstream_gene_variant,,ENST00000566906,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000568544,;MAZ,upstream_gene_variant,,ENST00000563012,;KIF22,downstream_gene_variant,,ENST00000400750,;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000219782,;MAZ,upstream_gene_variant,,ENST00000562337,;MAZ,upstream_gene_variant,,ENST00000563402,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000567444,;MAZ,upstream_gene_variant,,ENST00000322945,;AC009133.20,downstream_gene_variant,,ENST00000569039,;AC009133.15,downstream_gene_variant,,ENST00000566537,;AC009133.14,downstream_gene_variant,,ENST00000569981,;AC009133.14,downstream_gene_variant,,ENST00000563806,;KIF22,downstream_gene_variant,,ENST00000563263,;KIF22,3_prime_UTR_variant,,ENST00000568312,;KIF22,non_coding_transcript_exon_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000563666,;MAZ,upstream_gene_variant,,ENST00000565777,;	1805	43	65	SUCCESS
FBRS	64319	.	GRCh37	16	30675827	30675827	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	21	0	ENST00000287468.5:c.-214C>T		p.*72*	ENST00000287468	NM_001105079.1	449		0	.	.	.	.	.	T	N	protein_coding	YES	.	1347	MUTECT|MUSE	.	GCTAACGCCCT	NONE	.	.	hmmpanther:PTHR14429:SF19,hmmpanther:PTHR14429	.	.	ENSP00000348489	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000356166	Transcript	.	.	ENSG00000156860	20442	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FBRS	HGNC	J3KNZ9_HUMAN	.	UPI0000E59D83	SNV	FBRS,synonymous_variant,p.%3D,ENST00000356166,;FBRS,5_prime_UTR_variant,,ENST00000395073,;FBRS,5_prime_UTR_variant,,ENST00000287468,;FBRS,intron_variant,,ENST00000568722,;FBRS,non_coding_transcript_exon_variant,,ENST00000482749,;FBRS,intron_variant,,ENST00000543786,;FBRS,upstream_gene_variant,,ENST00000570170,;FBRS,upstream_gene_variant,,ENST00000494101,;FBRS,downstream_gene_variant,,ENST00000468966,;FBRS,downstream_gene_variant,,ENST00000484152,;FBRS,downstream_gene_variant,,ENST00000498588,;	2435	21	25	SUCCESS
CHD9	80205	.	GRCh37	16	53331069	53331069	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	88	0	ENST00000398510.3:c.5712A>T	p.Glu1904Asp	p.E1904D	ENST00000398510		1904	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45485.1	5712	MUTECT|MUSE	.	AAAGAAGGTAT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	.	.	ENSP00000457466	.	30/39	.	.	.	.	.	.	.	.	.	30/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Glu1904Asp,ENST00000566029,;CHD9,missense_variant,p.Glu1904Asp,ENST00000447540,;CHD9,missense_variant,p.Glu1904Asp,ENST00000564845,;CHD9,missense_variant,p.Glu1904Asp,ENST00000398510,;CHD9,splice_region_variant,,ENST00000219084,;RP11-454F8.2,upstream_gene_variant,,ENST00000566796,;	5921	88	88	SUCCESS
CETP	1071	.	GRCh37	16	56996939	56996939	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775077692	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	55	0	ENST00000200676.3:c.136A>G	p.Lys46Glu	p.K46E	ENST00000200676	NM_000078.2	46	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10772.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAAGGTG	NONE	.	.	hmmpanther:PTHR10504:SF12,hmmpanther:PTHR10504,PROSITE_patterns:PS00400,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,PIRSF_domain:PIRSF037185,Superfamily_domains:SSF55394	.	.	ENSP00000200676	.	2/16	.	.	.	.	.	.	.	.	rs775077692	2/16	PASS	ENST00000200676	Transcript	.	.	ENSG00000087237	1869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.22)	.	CETP_HUMAN	CETP	HGNC	Q9H4L8_HUMAN,Q8IWL9_HUMAN,H3BRJ9_HUMAN	.	UPI000013C62C	SNV	CETP,missense_variant,p.Lys46Glu,ENST00000200676,;CETP,missense_variant,p.Lys46Glu,ENST00000379780,;CETP,5_prime_UTR_variant,,ENST00000566128,;CETP,non_coding_transcript_exon_variant,,ENST00000569082,;	266	55	41	SUCCESS
ARHGAP44	9912	.	GRCh37	17	12877579	12877579	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1015683361	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	62	0	ENST00000379672.5:c.1715C>T	p.Ala572Val	p.A572V	ENST00000379672	NM_014859.4	572	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45616.1	1715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGCGCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13	.	.	ENSP00000368994	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000379672	Transcript	.	.	ENSG00000006740	29096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.15)	.	RHG44_HUMAN	ARHGAP44	HGNC	J3QQU7_HUMAN	.	UPI0000252116	SNV	ARHGAP44,missense_variant,p.Ala566Val,ENST00000340825,;ARHGAP44,missense_variant,p.Ala572Val,ENST00000379672,;ARHGAP44,missense_variant,p.Ala176Val,ENST00000583608,;ARHGAP44,missense_variant,p.Ala572Val,ENST00000262444,;RN7SL550P,upstream_gene_variant,,ENST00000583299,;ARHGAP44,non_coding_transcript_exon_variant,,ENST00000578087,;ARHGAP44,3_prime_UTR_variant,,ENST00000580768,;ARHGAP44,intron_variant,,ENST00000544416,;	2015	62	36	SUCCESS
RPA1	6117	.	GRCh37	17	1780506	1780506	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs770743630	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	41	155	0	ENST00000254719.5:c.588G>A		p.X196_splice	ENST00000254719	NM_002945.3	196	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS11014.1	588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGTGGAC	NONE	.	.	hmmpanther:PTHR23273:SF0,hmmpanther:PTHR23273,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00617,Superfamily_domains:SSF50249	.	.	ENSP00000254719	.	8/17	.	.	.	.	.	.	.	.	rs770743630	8/17	PASS	ENST00000254719	Transcript	.	.	ENSG00000132383	10289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFA1_HUMAN	RPA1	HGNC	I3L524_HUMAN,I3L2M5_HUMAN	.	UPI000013379A	SNV	RPA1,synonymous_variant,p.%3D,ENST00000254719,;RPA1,downstream_gene_variant,,ENST00000570451,;RPA1,downstream_gene_variant,,ENST00000571058,;RPA1,upstream_gene_variant,,ENST00000574049,;RPA1,splice_region_variant,,ENST00000573924,;	698	155	166	SUCCESS
BLMH	642	.	GRCh37	17	28599605	28599605	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	6	64	0	ENST00000261714.6:c.1002C>G	p.Ser334Arg	p.S334R	ENST00000261714	NM_000386.3	334	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS32604.1	1002	MUTECT|MUSE	.	AGCTTGCTATT	NONE	.	.	hmmpanther:PTHR10363,Gene3D:3.90.70.10,Pfam_domain:PF03051,PIRSF_domain:PIRSF005700,Superfamily_domains:SSF54001	.	.	ENSP00000261714	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000261714	Transcript	.	.	ENSG00000108578	1059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.75)	.	BLMH_HUMAN	BLMH	HGNC	K7EMJ3_HUMAN,J3KS79_HUMAN	.	UPI0000000C54	SNV	BLMH,missense_variant,p.Ser247Arg,ENST00000394819,;BLMH,missense_variant,p.Ser158Arg,ENST00000577623,;BLMH,missense_variant,p.Ser214Arg,ENST00000581037,;BLMH,missense_variant,p.Ser334Arg,ENST00000261714,;BLMH,downstream_gene_variant,,ENST00000584603,;BLMH,downstream_gene_variant,,ENST00000582669,;BLMH,3_prime_UTR_variant,,ENST00000578090,;BLMH,non_coding_transcript_exon_variant,,ENST00000577306,;BLMH,upstream_gene_variant,,ENST00000579957,;BLMH,downstream_gene_variant,,ENST00000579325,;	1177	64	81	SUCCESS
KRT15	3866	.	GRCh37	17	39673185	39673185	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138271368	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	54	0	ENST00000254043.3:c.613G>A	p.Val205Ile	p.V205I	ENST00000254043	NM_002275.3	205	Gtt/Att	0	T:0.0002	T:0	.	T:0.0014	.	T	V/I	protein_coding	YES	CCDS11398.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAACGCCCT	SITE|p.V205I|c.613G>A|15	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23239:SF164,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	T:0.001	T:0	ENSP00000254043	T:0	3/8	.	.	.	.	.	.	.	.	rs138271368,COSM215684	3/8	PASS	ENST00000254043	Transcript	.	T:0.0004	ENSG00000171346	6421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.655)	T:0	deleterious(0.01)	0,1	K1C15_HUMAN	KRT15	HGNC	.	.	UPI000013CE0E	SNV	KRT15,missense_variant,p.Val205Ile,ENST00000393976,;KRT15,missense_variant,p.Val205Ile,ENST00000254043,;KRT15,missense_variant,p.Val40Ile,ENST00000393981,;KRT15,missense_variant,p.Val40Ile,ENST00000393974,;KRT15,missense_variant,p.Val40Ile,ENST00000458290,;KRT15,synonymous_variant,p.%3D,ENST00000497016,;KRT15,3_prime_UTR_variant,,ENST00000470004,;KRT15,non_coding_transcript_exon_variant,,ENST00000463447,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,upstream_gene_variant,,ENST00000586794,;	4199	54	45	SUCCESS
NGFR	4804	.	GRCh37	17	47590068	47590068	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	20	125	0	ENST00000172229.3:c.983-2A>T		p.X328_splice	ENST00000172229	NM_002507.3	328		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11549.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCAGCCCT	NONE	.	.	.	.	.	ENSP00000172229	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000172229	Transcript	.	.	ENSG00000064300	7809	.	.	HIGH	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNR16_HUMAN	NGFR	HGNC	B4E096_HUMAN	.	UPI0000049854	SNV	NGFR,splice_acceptor_variant,,ENST00000172229,;NGFR,splice_acceptor_variant,,ENST00000504201,;RP5-1029K10.2,intron_variant,,ENST00000514506,;	.	126	131	SUCCESS
KIF1C	10749	.	GRCh37	17	4906968	4906968	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745461601	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	47	0	ENST00000320785.5:c.782G>T	p.Arg261Leu	p.R261L	ENST00000320785	NM_006612.5	261	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS11065.1	782	MUTECT|MUSE	.	GGCCCGGGGCA	NONE	byFrequency	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000320821	.	9/23	.	.	.	.	.	.	.	.	rs745461601	9/23	PASS	ENST00000320785	Transcript	.	.	ENSG00000129250	6317	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.07)	.	deleterious(0)	.	KIF1C_HUMAN	KIF1C	HGNC	I3L1B1_HUMAN	.	UPI0000001C26	SNV	KIF1C,missense_variant,p.Arg261Leu,ENST00000320785,;KIF1C,downstream_gene_variant,,ENST00000574165,;KIF1C,upstream_gene_variant,,ENST00000572959,;	1139	47	49	SUCCESS
ELP5	23587	.	GRCh37	17	7162394	7162395	+	intron_variant	Intron	DEL	TT	TT	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	27	0	ENST00000354429.2:c.836+149_836+150delinsA		p.*279*	ENST00000354429	NM_203415.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11094.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CACCCATTCCCCC	NONE	.	.	.	.	.	ENSP00000379869	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396628	Transcript	.	.	ENSG00000170291	30617	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELP5_HUMAN	ELP5	HGNC	I3NI50_HUMAN,I3L3N8_HUMAN,I3L2T0_HUMAN,I3L1A8_HUMAN	.	UPI000013E7B7	substitution	ELP5,3_prime_UTR_variant,,ENST00000574993,;ELP5,3_prime_UTR_variant,,ENST00000576496,;ELP5,3_prime_UTR_variant,,ENST00000356683,;ELP5,intron_variant,,ENST00000354429,;ELP5,intron_variant,,ENST00000396627,;ELP5,intron_variant,,ENST00000396628,;ELP5,intron_variant,,ENST00000570322,;CLDN7,downstream_gene_variant,,ENST00000574070,;ELP5,downstream_gene_variant,,ENST00000574841,;CLDN7,downstream_gene_variant,,ENST00000397317,;ELP5,downstream_gene_variant,,ENST00000570500,;ELP5,downstream_gene_variant,,ENST00000573513,;CLDN7,downstream_gene_variant,,ENST00000538261,;CLDN7,downstream_gene_variant,,ENST00000571932,;CLDN7,downstream_gene_variant,,ENST00000575313,;ELP5,downstream_gene_variant,,ENST00000574255,;ELP5,downstream_gene_variant,,ENST00000573657,;CLDN7,downstream_gene_variant,,ENST00000571881,;ELP5,downstream_gene_variant,,ENST00000573699,;ELP5,downstream_gene_variant,,ENST00000572104,;CLDN7,downstream_gene_variant,,ENST00000360325,;CLDN7,downstream_gene_variant,,ENST00000573745,;RP1-4G17.5,intron_variant,,ENST00000577138,;ELP5,downstream_gene_variant,,ENST00000571146,;	.	27	22	SUCCESS
GPRC5C	55890	.	GRCh37	17	72428271	72428271	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	62	179	1	ENST00000392627.1:c.94C>T	p.Gln32Ter	p.Q32*	ENST00000392627	NM_022036.2	32	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11699.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTCAGCCT	NONE	.	.	.	.	.	ENSP00000376403	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000392627	Transcript	.	.	ENSG00000170412	13309	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPC5C_HUMAN	GPRC5C	HGNC	J9JIE0_HUMAN,J3QQN3_HUMAN	.	UPI0000231CB2	SNV	GPRC5C,stop_gained,p.Gln7Ter,ENST00000392628,;GPRC5C,stop_gained,p.Gln32Ter,ENST00000481232,;GPRC5C,stop_gained,p.Gln32Ter,ENST00000392627,;GPRC5C,intron_variant,,ENST00000582444,;GPRC5C,intron_variant,,ENST00000342648,;GPRC5C,upstream_gene_variant,,ENST00000392629,;GPRC5C,upstream_gene_variant,,ENST00000582473,;	1220	180	178	SUCCESS
UNC13D	201294	.	GRCh37	17	73831746	73831746	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774248632	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	50	0	ENST00000207549.4:c.1709G>A	p.Arg570His	p.R570H	ENST00000207549	NM_199242.2	570	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11730.1	1709	MUTECT|MUSE|VARSCANS	.	TCATGCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR15015:SF20,hmmpanther:PTHR15015,PROSITE_profiles:PS51258	.	.	ENSP00000207549	.	19/32	.	.	.	.	.	.	.	.	rs774248632	19/32	PASS	ENST00000207549	Transcript	.	.	ENSG00000092929	23147	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.15)	.	UN13D_HUMAN	UNC13D	HGNC	K7EIH3_HUMAN	.	UPI000015FC91	SNV	UNC13D,missense_variant,p.Arg146His,ENST00000586147,;UNC13D,missense_variant,p.Arg570His,ENST00000207549,;UNC13D,missense_variant,p.Arg570His,ENST00000412096,;UNC13D,downstream_gene_variant,,ENST00000592386,;UNC13D,downstream_gene_variant,,ENST00000590762,;UNC13D,downstream_gene_variant,,ENST00000587504,;UNC13D,upstream_gene_variant,,ENST00000586930,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,upstream_gene_variant,,ENST00000591616,;UNC13D,downstream_gene_variant,,ENST00000587105,;	2089	50	58	SUCCESS
TMC8	147138	.	GRCh37	17	76130021	76130021	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	37	160	1	ENST00000318430.5:c.756C>T	p.Phe252=	p.F252=	ENST00000318430	NM_152468.4	252	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS32749.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTCTGCAT	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF34	.	.	ENSP00000325561	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000318430	Transcript	.	.	ENSG00000167895	20474	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC8_HUMAN	TMC8	HGNC	B3KXZ8_HUMAN	.	UPI00000747D3	SNV	TMC8,synonymous_variant,p.%3D,ENST00000589691,;TMC8,synonymous_variant,p.%3D,ENST00000318430,;TMC6,upstream_gene_variant,,ENST00000592594,;TMC8,downstream_gene_variant,,ENST00000590426,;TMC8,downstream_gene_variant,,ENST00000590799,;TMC6,upstream_gene_variant,,ENST00000322914,;TMC8,upstream_gene_variant,,ENST00000590184,;TMC8,upstream_gene_variant,,ENST00000591144,;TMC8,upstream_gene_variant,,ENST00000592399,;TMC6,upstream_gene_variant,,ENST00000587480,;TMC8,upstream_gene_variant,,ENST00000591003,;TMC6,upstream_gene_variant,,ENST00000586126,;TMC8,upstream_gene_variant,,ENST00000591983,;	1130	161	168	SUCCESS
RPTOR	57521	.	GRCh37	17	78919549	78919549	+	synonymous_variant	Silent	SNP	G	G	C	rs149016810	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	58	0	ENST00000306801.3:c.3108G>C	p.Pro1036=	p.P1036=	ENST00000306801	NM_020761.2	1036	ccG/ccC	0	A:0.0011	A:0.0045	.	A:0	.	C	P	protein_coding	YES	CCDS11773.1	3108	RADIA|MUTECT|MUSE	.	ACGCCGTGCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12848,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	A:0	A:0	ENSP00000307272	A:0	26/34	.	.	.	.	.	.	.	.	rs149016810	26/34	PASS	ENST00000306801	Transcript	.	A:0.0012	ENSG00000141564	30287	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,synonymous_variant,p.%3D,ENST00000544334,;RPTOR,synonymous_variant,p.%3D,ENST00000306801,;CTD-2561B21.4,upstream_gene_variant,,ENST00000576032,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,upstream_gene_variant,,ENST00000573163,;RPTOR,non_coding_transcript_exon_variant,,ENST00000573837,;	3470	58	75	SUCCESS
RP11-1055B8.7	0	.	GRCh37	17	79429989	79429989	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	74	0	ENST00000307745.7:c.7607A>C	p.Gln2536Pro	p.Q2536P	ENST00000307745		2536	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	.	7607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGTGCG	NONE	.	.	PROSITE_profiles:PS51038,hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22,Pfam_domain:PF01426,SMART_domains:SM00439	.	.	ENSP00000303486	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Gln2448Pro,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Gln2536Pro,ENST00000307745,;RP11-1055B8.8,upstream_gene_variant,,ENST00000572590,;RP11-1055B8.7,non_coding_transcript_exon_variant,,ENST00000571612,;RP11-1055B8.7,downstream_gene_variant,,ENST00000576071,;RP11-1055B8.7,downstream_gene_variant,,ENST00000576039,;	7607	74	74	SUCCESS
ALOX12B	242	.	GRCh37	17	7980038	7980038	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	74	0	ENST00000319144.4:c.1299C>T	p.Tyr433=	p.Y433=	ENST00000319144	NM_001139.2	433	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11129.1	1299	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTGTATCG	NONE	.	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484,Prints_domain:PR00087	.	.	ENSP00000315167	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000319144	Transcript	.	.	ENSG00000179477	430	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LX12B_HUMAN	ALOX12B	HGNC	.	.	UPI000000D996	SNV	ALOX12B,synonymous_variant,p.%3D,ENST00000319144,;AC129492.6,upstream_gene_variant,,ENST00000399413,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000577351,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000584116,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000583276,;	1560	74	82	SUCCESS
RTTN	25914	.	GRCh37	18	67715231	67715231	+	synonymous_variant	Silent	SNP	T	T	C	rs761470498	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	36	0	ENST00000255674.6:c.5517A>G	p.Glu1839=	p.E1839=	ENST00000255674	NM_173630.3	1839	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS42443.1	5517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGTTCTAG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	.	.	ENSP00000255674	.	40/49	.	.	.	.	.	.	.	.	rs761470498	40/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,synonymous_variant,p.%3D,ENST00000255674,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;	5804	36	41	SUCCESS
COL5A3	50509	.	GRCh37	19	10084600	10084600	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	57	0	ENST00000264828.3:c.3553T>C	p.Ser1185Pro	p.S1185P	ENST00000264828	NM_015719.3	1185	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS12222.1	3553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGATCCAG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	.	.	ENSP00000264828	.	48/67	.	.	.	.	.	.	.	.	.	48/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,missense_variant,p.Ser1185Pro,ENST00000264828,;	3639	57	37	SUCCESS
KEAP1	9817	.	GRCh37	19	10602292	10602292	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	72	0	ENST00000171111.5:c.1286G>A	p.Gly429Asp	p.G429D	ENST00000171111	NM_203500.1	429	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12239.1	1286	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGCCGACG	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Gly429Asp,ENST00000393623,;KEAP1,missense_variant,p.Gly36Asp,ENST00000592478,;KEAP1,missense_variant,p.Gly429Asp,ENST00000171111,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Gly89Asp,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	1834	72	37	SUCCESS
ZNF44	51710	.	GRCh37	19	12386801	12386801	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs779363886	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	60	0	ENST00000356109.5:c.244C>G	p.Arg82Gly	p.R82G	ENST00000356109	NM_001164276.1	82	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS54223.1	244	MUTECT|MUSE	.	TTCTCGCATCA	NONE	byFrequency	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24379:SF17,hmmpanther:PTHR24379,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000348419	.	3/5	.	.	.	.	.	.	.	.	rs779363886	3/5	PASS	ENST00000356109	Transcript	.	.	ENSG00000197857	13110	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.119)	.	tolerated(0.12)	.	ZNF44_HUMAN	ZNF44	HGNC	Q6LDH8_HUMAN,O14858_HUMAN	.	UPI00017A7462	SNV	ZNF44,missense_variant,p.Arg82Gly,ENST00000356109,;ZNF44,missense_variant,p.Arg34Gly,ENST00000355684,;ZNF44,missense_variant,p.Arg82Gly,ENST00000393337,;ZNF44,missense_variant,p.Arg82Gly,ENST00000600003,;ZNF44,missense_variant,p.Arg34Gly,ENST00000397742,;ZNF44,3_prime_UTR_variant,,ENST00000354656,;	363	60	81	SUCCESS
YJEFN3	374887	.	GRCh37	19	19640291	19640291	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1449845860	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	75	0	ENST00000514277.4:c.178C>G	p.Gln60Glu	p.Q60E	ENST00000514277	NM_198537.3	60	Cag/Gag	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12404.2	.	MUTECT|MUSE	.	TAGAGCAGATT	NONE	.	1284	.	.	.	ENSP00000423673	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000507754	Transcript	1	.	ENSG00000186010	17194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUAD_HUMAN	NDUFA13	HGNC	.	.	UPI00001699BB	SNV	NDUFA13,missense_variant,p.Gln182Glu,ENST00000512771,;YJEFN3,missense_variant,p.Gln60Glu,ENST00000514277,;YJEFN3,intron_variant,,ENST00000608404,;CTC-260F20.3,intron_variant,,ENST00000555938,;YJEFN3,intron_variant,,ENST00000436027,;NDUFA13,downstream_gene_variant,,ENST00000428459,;NDUFA13,downstream_gene_variant,,ENST00000507754,;NDUFA13,downstream_gene_variant,,ENST00000252576,;NDUFA13,downstream_gene_variant,,ENST00000503283,;CTC-260F20.3,non_coding_transcript_exon_variant,,ENST00000586674,;YJEFN3,intron_variant,,ENST00000458210,;NDUFA13,downstream_gene_variant,,ENST00000606722,;NDUFA13,downstream_gene_variant,,ENST00000511584,;NDUFA13,downstream_gene_variant,,ENST00000511180,;NDUFA13,downstream_gene_variant,,ENST00000502506,;	.	75	88	SUCCESS
RBM42	79171	.	GRCh37	19	36123868	36123868	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs78375138	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	76	0	ENST00000262633.4:c.473G>A	p.Arg158His	p.R158H	ENST00000262633	NM_024321.3	158	cGt/cAt	0	.	A:0.0015	.	A:0	.	A	R/H	protein_coding	YES	CCDS12468.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGTCCAG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000262633	A:0	5/10	.	.	.	.	.	.	.	.	rs78375138	5/10	PASS	ENST00000262633	Transcript	.	A:0.0004	ENSG00000126254	28117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	A:0	tolerated(0.09)	.	RBM42_HUMAN	RBM42	HGNC	.	.	UPI000006D046	SNV	RBM42,missense_variant,p.Arg158His,ENST00000262633,;RBM42,intron_variant,,ENST00000588161,;RBM42,intron_variant,,ENST00000592202,;RBM42,intron_variant,,ENST00000360475,;RBM42,intron_variant,,ENST00000589559,;RBM42,intron_variant,,ENST00000589871,;RBM42,intron_variant,,ENST00000586618,;RBM42,downstream_gene_variant,,ENST00000592526,;	578	76	82	SUCCESS
ZNF222	7673	.	GRCh37	19	44531618	44531618	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	10	120	0	ENST00000187879.8:c.142+317A>G		p.*48*	ENST00000187879	NM_013360.2	80		0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46098.1	238	MUTECT|MUSE	.	GGACAACAAGC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402:SF163,hmmpanther:PTHR24402	.	.	ENSP00000375822	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000391960	Transcript	.	.	ENSG00000159885	13015	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	ZN222_HUMAN	ZNF222	HGNC	Q02387_HUMAN	.	UPI000014182E	SNV	ZNF222,missense_variant,p.Thr80Ala,ENST00000391960,;ZNF222,missense_variant,p.Thr80Ala,ENST00000587846,;ZNF222,intron_variant,,ENST00000187879,;AC067968.3,upstream_gene_variant,,ENST00000592583,;ZNF222,non_coding_transcript_exon_variant,,ENST00000590160,;ZNF223,missense_variant,p.Thr80Ala,ENST00000591793,;	275	120	133	SUCCESS
BCL2L12	83596	.	GRCh37	19	50169299	50169299	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	15	122	0	ENST00000246785.3:c.219G>A	p.Arg73=	p.R73=	ENST00000246785	NM_138639.1	73	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12776.1	219	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGAGGCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000246785	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000246785	Transcript	.	.	ENSG00000126453	13787	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B2L12_HUMAN	BCL2L12	HGNC	.	.	UPI00001267BC	SNV	BCL2L12,synonymous_variant,p.%3D,ENST00000598306,;BCL2L12,synonymous_variant,p.%3D,ENST00000246785,;BCL2L12,synonymous_variant,p.%3D,ENST00000594157,;BCL2L12,synonymous_variant,p.%3D,ENST00000600947,;BCL2L12,synonymous_variant,p.%3D,ENST00000246784,;BCL2L12,synonymous_variant,p.%3D,ENST00000441864,;IRF3,upstream_gene_variant,,ENST00000598808,;IRF3,upstream_gene_variant,,ENST00000596756,;IRF3,upstream_gene_variant,,ENST00000596765,;IRF3,upstream_gene_variant,,ENST00000600022,;IRF3,upstream_gene_variant,,ENST00000599144,;IRF3,upstream_gene_variant,,ENST00000442265,;IRF3,upstream_gene_variant,,ENST00000600911,;IRF3,upstream_gene_variant,,ENST00000593337,;IRF3,upstream_gene_variant,,ENST00000596822,;IRF3,upstream_gene_variant,,ENST00000593922,;IRF3,upstream_gene_variant,,ENST00000309877,;IRF3,upstream_gene_variant,,ENST00000601809,;IRF3,upstream_gene_variant,,ENST00000600453,;IRF3,upstream_gene_variant,,ENST00000601291,;IRF3,upstream_gene_variant,,ENST00000377135,;IRF3,upstream_gene_variant,,ENST00000599223,;IRF3,upstream_gene_variant,,ENST00000593818,;IRF3,upstream_gene_variant,,ENST00000597198,;IRF3,upstream_gene_variant,,ENST00000601373,;IRF3,upstream_gene_variant,,ENST00000377139,;IRF3,upstream_gene_variant,,ENST00000595034,;IRF3,upstream_gene_variant,,ENST00000598108,;IRF3,upstream_gene_variant,,ENST00000599680,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,upstream_gene_variant,,ENST00000597180,;BCL2L12,synonymous_variant,p.%3D,ENST00000598979,;BCL2L12,non_coding_transcript_exon_variant,,ENST00000601168,;IRF3,upstream_gene_variant,,ENST00000597369,;IRF3,upstream_gene_variant,,ENST00000596788,;IRF3,upstream_gene_variant,,ENST00000597636,;IRF3,upstream_gene_variant,,ENST00000594387,;IRF3,upstream_gene_variant,,ENST00000595240,;	477	122	106	SUCCESS
TARM1	441864	.	GRCh37	19	54584606	54584606	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767412580	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	116	1	ENST00000432826.1:c.4A>G	p.Ile2Val	p.I2V	ENST00000432826	NM_001135686.1	2	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46173.1	4	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGATCATGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11738:SF84,hmmpanther:PTHR11738	.	.	ENSP00000439454	.	1/5	.	.	.	.	.	.	.	.	rs767412580	1/5	PASS	ENST00000432826	Transcript	.	.	ENSG00000248385	37250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.25)	.	TARM1_HUMAN	TARM1	HGNC	.	.	UPI00004FB5DD	SNV	TARM1,missense_variant,p.Ile2Val,ENST00000432826,;TARM1,upstream_gene_variant,,ENST00000446034,;	29	117	99	SUCCESS
FLG2	388698	.	GRCh37	1	152325270	152325270	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	9	62	0	ENST00000388718.5:c.4992G>T	p.Gly1664=	p.G1664=	ENST00000388718	NM_001014342.2	1664	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30861.1	4992	MUTECT|MUSE	.	GAGACCCCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	5065	62	130	SUCCESS
DCST1	149095	.	GRCh37	1	155013030	155013030	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs779035165	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	385	37	187	0	ENST00000295542.1:c.461A>C	p.Gln154Pro	p.Q154P	ENST00000295542	NM_152494.3	154	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1083.1	461	MUTECT|MUSE|VARSCANS	.	GCTGCAGATCA	NONE	.	.	hmmpanther:PTHR21041:SF5,hmmpanther:PTHR21041	.	.	ENSP00000295542	.	6/17	.	.	.	.	.	.	.	.	rs779035165	6/17	PASS	ENST00000295542	Transcript	.	.	ENSG00000163357	26539	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	DCST1_HUMAN	DCST1	HGNC	.	.	UPI000013E269	SNV	DCST1,missense_variant,p.Gln129Pro,ENST00000423025,;DCST1,missense_variant,p.Gln154Pro,ENST00000392480,;DCST1,missense_variant,p.Gln154Pro,ENST00000368419,;DCST1,missense_variant,p.Gln154Pro,ENST00000295542,;RP11-307C12.11,downstream_gene_variant,,ENST00000452962,;DCST1,missense_variant,p.Gln179Pro,ENST00000525273,;	557	187	422	SUCCESS
PEAR1	375033	.	GRCh37	1	156878621	156878621	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs754907654	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	37	0	ENST00000292357.7:c.1290G>A		p.X430_splice	ENST00000292357	NM_001080471.1	430	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30892.1	1290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACGGTGAG	NONE	byFrequency	.	Prints_domain:PR00011,SMART_domains:SM00181,SMART_domains:SM00180,Pfam_domain:PF12661,Gene3D:2gy5A03,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24052:SF9,hmmpanther:PTHR24052,PROSITE_profiles:PS50026	.	.	ENSP00000344465	.	11/24	.	.	.	.	.	.	.	.	rs754907654	11/24	PASS	ENST00000338302	Transcript	.	.	ENSG00000187800	33631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEAR1_HUMAN	PEAR1	HGNC	A6PVP2_HUMAN	.	UPI000045889A	SNV	PEAR1,synonymous_variant,p.%3D,ENST00000338302,;PEAR1,synonymous_variant,p.%3D,ENST00000292357,;PEAR1,downstream_gene_variant,,ENST00000455314,;PEAR1,splice_region_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000465101,;PEAR1,downstream_gene_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;	1515	37	74	SUCCESS
ITLN1	55600	.	GRCh37	1	160851937	160851937	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758353589	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	280	11	131	0	ENST00000326245.3:c.215T>C	p.Met72Thr	p.M72T	ENST00000326245	NM_017625.2	72	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS1211.1	215	MUTECT|MUSE	.	AGGTCATGTCA	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR16146:SF38,hmmpanther:PTHR16146,Gene3D:3.90.215.10,Superfamily_domains:SSF56496	.	.	ENSP00000323587	.	4/8	.	.	.	.	.	.	.	.	rs758353589	4/8	PASS	ENST00000326245	Transcript	.	.	ENSG00000179914	18259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ITLN1_HUMAN	ITLN1	HGNC	.	.	UPI0000032AA3	SNV	ITLN1,missense_variant,p.Met72Thr,ENST00000326245,;ITLN1,non_coding_transcript_exon_variant,,ENST00000464077,;ITLN1,upstream_gene_variant,,ENST00000487531,;	331	131	291	SUCCESS
FCRLA	84824	.	GRCh37	1	161681105	161681105	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs199798212	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	9	91	0	ENST00000367959.2:c.409C>T	p.Arg137Ter	p.R137*	ENST00000367959	NM_001184866.1	137	Cga/Tga	0	.	T:0	.	T:0.0014	.	T	R/*	protein_coding	YES	CCDS53415.1	409	MUTECT|MUSE	.	TCTACCGAGAT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF9,PROSITE_profiles:PS50835	T:0	.	ENSP00000356936	T:0	4/6	.	.	.	.	.	.	.	.	rs199798212	4/6	PASS	ENST00000367959	Transcript	.	T:0.0002	ENSG00000132185	18504	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	.	FCRLA	HGNC	A6NC03_HUMAN	.	UPI0001D3957E	SNV	FCRLA,stop_gained,p.Arg131Ter,ENST00000236938,;FCRLA,stop_gained,p.Arg114Ter,ENST00000349527,;FCRLA,stop_gained,p.Arg137Ter,ENST00000367959,;FCRLA,stop_gained,p.Arg120Ter,ENST00000540926,;FCRLA,stop_gained,p.Arg120Ter,ENST00000367953,;FCRLA,intron_variant,,ENST00000367950,;FCRLA,intron_variant,,ENST00000367957,;FCRLA,intron_variant,,ENST00000350710,;FCRLA,intron_variant,,ENST00000367949,;FCRLA,intron_variant,,ENST00000546024,;FCRLA,intron_variant,,ENST00000540521,;FCRLA,intron_variant,,ENST00000294796,;FCRLA,intron_variant,,ENST00000309691,;FCRLA,non_coding_transcript_exon_variant,,ENST00000465403,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;	651	91	193	SUCCESS
AXDND1	126859	.	GRCh37	1	179460807	179460807	+	synonymous_variant	Silent	SNP	G	G	A	rs201638557	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	422	12	201	0	ENST00000367618.3:c.2226G>A	p.Ala742=	p.A742=	ENST00000367618	NM_144696.5	742	gcG/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS30948.1	2226	MUTECT|MUSE	.	GTTGCGCGATT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23052	A:0.002	.	ENSP00000356590	A:0	19/26	.	.	.	.	.	.	.	.	rs201638557	19/26	PASS	ENST00000367618	Transcript	.	A:0.0004	ENSG00000162779	26564	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	AXDN1_HUMAN	AXDND1	HGNC	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	.	UPI000022AC91	SNV	AXDND1,synonymous_variant,p.%3D,ENST00000434088,;AXDND1,synonymous_variant,p.%3D,ENST00000367618,;AL160286.1,upstream_gene_variant,,ENST00000600581,;AXDND1,downstream_gene_variant,,ENST00000457238,;AXDND1,upstream_gene_variant,,ENST00000484883,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	2613	201	434	SUCCESS
QSOX1	5768	.	GRCh37	1	180144477	180144477	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	295	16	111	0	ENST00000367602.3:c.388A>G	p.Asn130Asp	p.N130D	ENST00000367602		130	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1337.1	388	MUTECT|MUSE	.	CCAAGAACGGC	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF6,PROSITE_profiles:PS51352	.	.	ENSP00000356574	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000367602	Transcript	.	.	ENSG00000116260	9756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.51)	.	QSOX1_HUMAN	QSOX1	HGNC	.	.	UPI000004C63C	SNV	QSOX1,missense_variant,p.Asn130Asp,ENST00000367602,;QSOX1,missense_variant,p.Asn130Asp,ENST00000367600,;QSOX1,missense_variant,p.Asn130Asp,ENST00000392029,;	462	111	311	SUCCESS
DHX9	1660	.	GRCh37	1	182828232	182828232	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	16	74	0	ENST00000367549.3:c.1120C>T	p.Gln374Ter	p.Q374*	ENST00000367549	NM_001357.4	374	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS41444.1	1120	MUTECT|MUSE|VARSCANS	.	TGGAACAGGAT	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934	.	.	ENSP00000356520	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,stop_gained,p.Gln374Ter,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000479271,;DHX9,downstream_gene_variant,,ENST00000483416,;	1230	74	172	SUCCESS
HMCN1	83872	.	GRCh37	1	186136049	186136049	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	125	95	0	ENST00000271588.4:c.15550del	p.Thr5184ProfsTer5	p.T5184Pfs*5	ENST00000271588	NM_031935.2	5183	agA/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS30956.1	15549	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGAAGAACCTC	NONE	.	.	hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000271588	.	100/107	.	.	.	.	.	.	.	.	.	100/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	deletion	HMCN1,frameshift_variant,p.Thr5184ProfsTer5,ENST00000367492,;HMCN1,frameshift_variant,p.Thr5184ProfsTer5,ENST00000271588,;HMCN1,upstream_gene_variant,,ENST00000414277,;HMCN1,intron_variant,,ENST00000475585,;	15778	95	328	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186908281	186908281	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	285	20	148	0	ENST00000367466.3:c.837A>T	p.Leu279Phe	p.L279F	ENST00000367466	NM_024420.2	279	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1372.1	837	MUTECT|MUSE	.	TCTTTATGGAA	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Leu219Phe,ENST00000442353,;PLA2G4A,missense_variant,p.Leu279Phe,ENST00000367466,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	989	148	305	SUCCESS
CD46	4179	.	GRCh37	1	207934753	207934753	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147837939	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	17	70	0	ENST00000358170.2:c.635A>G	p.Asp212Gly	p.D212G	ENST00000358170	NM_002389.4	212	gAc/gGc	0	T:0	.	.	.	.	G	D/G	protein_coding	YES	CCDS1482.1	635	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGACAATT	NONE	byCluster	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,PIRSF_domain:PIRSF037971,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,PROSITE_profiles:PS50923	.	T:0.0001	ENSP00000313875	.	5/13	.	.	.	.	.	.	.	.	rs147837939	5/13	PASS	ENST00000322875	Transcript	.	.	ENSG00000117335	6953	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	MCP_HUMAN	CD46	HGNC	Q06C42_HUMAN	.	UPI000015FF6E	SNV	CD46,missense_variant,p.Asp212Gly,ENST00000360212,;CD46,missense_variant,p.Asp212Gly,ENST00000322918,;CD46,missense_variant,p.Asp212Gly,ENST00000358170,;CD46,missense_variant,p.Asp212Gly,ENST00000354848,;CD46,missense_variant,p.Asp212Gly,ENST00000367042,;CD46,missense_variant,p.Asp149Gly,ENST00000367047,;CD46,missense_variant,p.Asp212Gly,ENST00000361067,;CD46,missense_variant,p.Asp212Gly,ENST00000441839,;CD46,missense_variant,p.Asp212Gly,ENST00000480003,;CD46,missense_variant,p.Asp212Gly,ENST00000357714,;CD46,missense_variant,p.Asp212Gly,ENST00000367041,;CD46,missense_variant,p.Asp212Gly,ENST00000322875,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,downstream_gene_variant,,ENST00000493796,;CD46,non_coding_transcript_exon_variant,,ENST00000464082,;RP11-454L1.2,upstream_gene_variant,,ENST00000435216,;	791	70	151	SUCCESS
PTPN14	5784	.	GRCh37	1	214542922	214542922	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	279	12	151	0	ENST00000366956.5:c.3149G>T	p.Cys1050Phe	p.C1050F	ENST00000366956	NM_005401.4	1050	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS1514.1	3149	MUTECT|MUSE	.	CATAGCAAACA	NONE	.	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000934,SMART_domains:SM00194,Gene3D:3.90.190.10,Pfam_domain:PF00102,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PROSITE_profiles:PS50055	.	.	ENSP00000355923	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.378)	.	tolerated(0.05)	.	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Cys1050Phe,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;PTPN14,downstream_gene_variant,,ENST00000473261,;	3344	151	291	SUCCESS
USH2A	7399	.	GRCh37	1	216405413	216405413	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	548	26	272	0	ENST00000307340.3:c.2875G>A	p.Val959Ile	p.V959I	ENST00000307340	NM_206933.2	959	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31025.1	2875	MUTECT|MUSE	.	ATTAACTGCAC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	14/72	.	.	.	.	.	.	.	.	.	14/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.219)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Val959Ile,ENST00000366942,;USH2A,missense_variant,p.Val959Ile,ENST00000366943,;USH2A,missense_variant,p.Val959Ile,ENST00000307340,;	3262	272	574	SUCCESS
DNAH14	127602	.	GRCh37	1	225305696	225305696	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	74	175	0	ENST00000445597.2:c.3052-22774G>T		p.*1018*	ENST00000445597		440		0	.	.	.	.	.	T	L	protein_coding	.	.	1320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGCCAAA	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF132	.	.	ENSP00000332424	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000328556	Transcript	.	.	ENSG00000185842	2945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DNAH14	HGNC	H9KV43_HUMAN	.	UPI000198C4F6	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000328556,;DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000474801,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,synonymous_variant,p.%3D,ENST00000495456,;	1320	175	336	SUCCESS
MYOM3	127294	.	GRCh37	1	24409320	24409320	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	16	0	ENST00000374434.3:c.1971-116G>A		p.*657*	ENST00000374434	NM_152372.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41281.1	.	MUTECT|MUSE	.	AGGTTCAGGTC	NONE	.	.	.	.	.	ENSP00000363557	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374434	Transcript	.	.	ENSG00000142661	26679	.	.	MODIFIER	16/36	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOM3_HUMAN	MYOM3	HGNC	.	.	UPI0000203A5D	SNV	MYOM3,intron_variant,,ENST00000374434,;MYOM3,intron_variant,,ENST00000329601,;MYOM3,intron_variant,,ENST00000330966,;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,non_coding_transcript_exon_variant,,ENST00000475306,;MYOM3,intron_variant,,ENST00000448831,;	.	16	23	SUCCESS
OR2B11	127623	.	GRCh37	1	247614647	247614647	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	141	123	0	ENST00000318749.6:c.638T>A	p.Val213Glu	p.V213E	ENST00000318749	NM_001004492.1	213	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS31090.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCACCAAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,PROSITE_profiles:PS50262	.	.	ENSP00000325682	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318749	Transcript	.	.	ENSG00000177535	31249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.761)	.	deleterious(0)	.	OR2BB_HUMAN	OR2B11	HGNC	.	.	UPI0000418F50	SNV	OR2B11,missense_variant,p.Val213Glu,ENST00000318749,;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000336119,;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000348069,;NLRP3,downstream_gene_variant,,ENST00000366497,;NLRP3,downstream_gene_variant,,ENST00000391828,;NLRP3,downstream_gene_variant,,ENST00000532083,;	662	124	202	SUCCESS
RHCE	6006	.	GRCh37	1	25735269	25735269	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	146	216	1	ENST00000294413.7:c.240C>A	p.Asn80Lys	p.N80K	ENST00000294413	NM_020485.4	80	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS30635.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGTTGAA	NONE	.	.	Prints_domain:PR00342,Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix	.	.	ENSP00000294413	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000294413	Transcript	.	.	ENSG00000188672	10008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	RHCE_HUMAN	RHCE	HGNC	Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN	.	UPI00001D9627	SNV	RHCE,missense_variant,p.Asn80Lys,ENST00000455194,;RHCE,missense_variant,p.Asn80Lys,ENST00000340849,;RHCE,missense_variant,p.Asn64Lys,ENST00000374352,;RHCE,missense_variant,p.Asn64Lys,ENST00000349320,;RHCE,missense_variant,p.Asn80Lys,ENST00000346452,;RHCE,missense_variant,p.Asn80Lys,ENST00000425135,;RHCE,missense_variant,p.Asn80Lys,ENST00000349438,;RHCE,missense_variant,p.Asn80Lys,ENST00000243186,;RHCE,missense_variant,p.Asn80Lys,ENST00000413854,;RHCE,missense_variant,p.Asn80Lys,ENST00000294413,;AL031284.1,downstream_gene_variant,,ENST00000577655,;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;RHCE,intron_variant,,ENST00000533771,;	299	217	199	SUCCESS
ARID1A	8289	.	GRCh37	1	27023300	27023300	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	21	0	ENST00000324856.7:c.406C>A	p.Pro136Thr	p.P136T	ENST00000324856	NM_006015.4	136	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS285.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCCTCAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000320485	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Pro136Thr,ENST00000457599,;ARID1A,missense_variant,p.Pro136Thr,ENST00000324856,;RP5-968P14.2,upstream_gene_variant,,ENST00000569378,;	777	21	19	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55118887	55118887	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	67	0	ENST00000414150.2:c.288C>A	p.Ile96=	p.I96=	ENST00000414150		96	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS41342.2	288	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCACCAG	NONE	.	.	.	.	.	ENSP00000396622	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,synonymous_variant,p.%3D,ENST00000395690,;MROH7,synonymous_variant,p.%3D,ENST00000421030,;MROH7,synonymous_variant,p.%3D,ENST00000339553,;MROH7,intron_variant,,ENST00000454855,;MROH7,intron_variant,,ENST00000409996,;MROH7,intron_variant,,ENST00000545244,;MROH7,non_coding_transcript_exon_variant,,ENST00000472987,;MROH7,intron_variant,,ENST00000478097,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000414150,;MROH7,synonymous_variant,p.%3D,ENST00000438846,;MROH7,synonymous_variant,p.%3D,ENST00000413188,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000425300,;MROH7,synonymous_variant,p.%3D,ENST00000422659,;MROH7,synonymous_variant,p.%3D,ENST00000440047,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000606515,;MROH7,upstream_gene_variant,,ENST00000440217,;	573	67	60	SUCCESS
NKX2-2	4821	.	GRCh37	20	21494192	21494192	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	58	0	ENST00000377142.4:c.116C>A	p.Pro39His	p.P39H	ENST00000377142	NM_002509.3	39	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS13145.1	116	MUTECT|MUSE|VARSCANS	.	GCTCGGGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24	.	.	ENSP00000366347	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000377142	Transcript	.	.	ENSG00000125820	7835	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.087)	.	tolerated(0.07)	.	NKX22_HUMAN	NKX2-2	HGNC	.	.	UPI00001301E6	SNV	NKX2-2,missense_variant,p.Pro39His,ENST00000377142,;NKX2-2-AS1,downstream_gene_variant,,ENST00000549659,;	473	58	74	SUCCESS
DNMT3B	1789	.	GRCh37	20	31375142	31375142	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs537913125	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	133	0	ENST00000328111.2:c.539C>T	p.Thr180Met	p.T180M	ENST00000328111	NM_006892.3	180	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS13205.1	539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACGCCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068	.	.	ENSP00000328547	.	6/23	.	.	.	.	.	.	.	.	rs537913125	6/23	PASS	ENST00000328111	Transcript	1	.	ENSG00000088305	2979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.11)	.	DNM3B_HUMAN	DNMT3B	HGNC	.	.	UPI0000001046	SNV	DNMT3B,missense_variant,p.Thr192Met,ENST00000201963,;DNMT3B,missense_variant,p.Thr180Met,ENST00000344505,;DNMT3B,missense_variant,p.Thr180Met,ENST00000353855,;DNMT3B,missense_variant,p.Thr180Met,ENST00000348286,;DNMT3B,missense_variant,p.Thr138Met,ENST00000375623,;DNMT3B,missense_variant,p.Thr138Met,ENST00000443239,;DNMT3B,missense_variant,p.Thr180Met,ENST00000328111,;DNMT3B,missense_variant,p.Thr104Met,ENST00000456297,;	860	133	117	SUCCESS
RBM39	9584	.	GRCh37	20	34326925	34326925	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	6	123	0	ENST00000253363.6:c.66G>A	p.Leu22=	p.L22=	ENST00000253363		22	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13266.1	66	MUTECT|MUSE	.	CTGCTCAACTT	NONE	.	.	.	.	.	ENSP00000253363	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000253363	Transcript	.	.	ENSG00000131051	15923	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBM39_HUMAN	RBM39	HGNC	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN	.	UPI0000134418	SNV	RBM39,synonymous_variant,p.%3D,ENST00000528062,;RBM39,synonymous_variant,p.%3D,ENST00000434927,;RBM39,synonymous_variant,p.%3D,ENST00000361162,;RBM39,synonymous_variant,p.%3D,ENST00000426951,;RBM39,synonymous_variant,p.%3D,ENST00000253363,;RBM39,synonymous_variant,p.%3D,ENST00000397370,;RBM39,synonymous_variant,p.%3D,ENST00000374038,;RBM39,5_prime_UTR_variant,,ENST00000407261,;RBM39,non_coding_transcript_exon_variant,,ENST00000487604,;RBM39,non_coding_transcript_exon_variant,,ENST00000442447,;RBM39,downstream_gene_variant,,ENST00000463098,;RBM39,upstream_gene_variant,,ENST00000498280,;RBM39,synonymous_variant,p.%3D,ENST00000429968,;RBM39,synonymous_variant,p.%3D,ENST00000433027,;RBM39,synonymous_variant,p.%3D,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000455343,;RBM39,3_prime_UTR_variant,,ENST00000453310,;RBM39,3_prime_UTR_variant,,ENST00000449489,;RBM39,3_prime_UTR_variant,,ENST00000412738,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000416529,;RBM39,3_prime_UTR_variant,,ENST00000416108,;RBM39,3_prime_UTR_variant,,ENST00000425184,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000481037,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000477334,;RBM39,downstream_gene_variant,,ENST00000461849,;RBM39,downstream_gene_variant,,ENST00000493853,;	90	123	103	SUCCESS
CHD6	84181	.	GRCh37	20	40162110	40162110	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	6	66	0	ENST00000373233.3:c.133G>C	p.Glu45Gln	p.E45Q	ENST00000373233	NM_032221.4	45	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS13317.1	133	MUTECT|MUSE	.	CTCTTCTTGAT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589	.	.	ENSP00000362330	.	3/37	.	.	.	.	.	.	.	.	COSM159982	3/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.014)	.	tolerated_low_confidence(0.13)	1	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Glu45Gln,ENST00000440647,;CHD6,missense_variant,p.Glu45Gln,ENST00000373233,;CHD6,missense_variant,p.Glu45Gln,ENST00000309279,;CHD6,missense_variant,p.Glu80Gln,ENST00000373222,;CHD6,non_coding_transcript_exon_variant,,ENST00000482596,;CHD6,upstream_gene_variant,,ENST00000470470,;	311	66	98	SUCCESS
KCNS1	3787	.	GRCh37	20	43726446	43726446	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	58	0	ENST00000306117.1:c.967G>A	p.Gly323Ser	p.G323S	ENST00000306117	NM_002251.3	323	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13342.1	967	RADIA|MUTECT|MUSE|VARSCANS	.	CACACCAGCCA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF61	.	.	ENSP00000307694	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000306117	Transcript	.	.	ENSG00000124134	6300	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.18)	.	KCNS1_HUMAN	KCNS1	HGNC	A2RUL8_HUMAN	.	UPI000012DCD1	SNV	KCNS1,missense_variant,p.Gly323Ser,ENST00000537075,;KCNS1,missense_variant,p.Gly323Ser,ENST00000306117,;	1364	58	43	SUCCESS
SEMG2	6407	.	GRCh37	20	43851311	43851313	+	inframe_deletion	In_Frame_Del	DEL	ATC	ATC	-	rs762335360	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	ATC	ATC	.	.	.	.	.	.	.	.	.	.	.	.	.	136	42	188	0	ENST00000372769.3:c.1040_1042del	p.Ser347del	p.S347del	ENST00000372769	NM_003008.2	346	atATCa/ata	0	.	.	.	.	.	-	IS/I	protein_coding	YES	CCDS13346.1	1038-1040	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAAATATCATACC	NONE	.	.	hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6,Pfam_domain:PF05474	.	.	ENSP00000361855	.	2/3	.	.	.	.	.	.	.	.	rs762335360	2/3	PASS	ENST00000372769	Transcript	.	.	ENSG00000124157	10743	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEMG2_HUMAN	SEMG2	HGNC	.	.	UPI0000135845	deletion	SEMG2,inframe_deletion,p.Ser347del,ENST00000372769,;	1128-1130	188	178	SUCCESS
TFAP2C	7022	.	GRCh37	20	55206890	55206890	+	synonymous_variant	Silent	SNP	C	C	T	rs1379019762	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	79	0	ENST00000201031.2:c.564C>T	p.His188=	p.H188=	ENST00000201031	NM_003222.3	188	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS13454.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACGATCA	NONE	.	.	hmmpanther:PTHR10812:SF9,hmmpanther:PTHR10812	.	.	ENSP00000201031	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000201031	Transcript	.	.	ENSG00000087510	11744	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP2C_HUMAN	TFAP2C	HGNC	B4DWK3_HUMAN	.	UPI0000125BC8	SNV	TFAP2C,synonymous_variant,p.%3D,ENST00000544508,;TFAP2C,synonymous_variant,p.%3D,ENST00000201031,;TFAP2C,downstream_gene_variant,,ENST00000416606,;	807	79	68	SUCCESS
KRTAP19-4	337971	.	GRCh37	21	31869331	31869331	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs973143755	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	90	0	ENST00000334058.2:c.98G>A	p.Arg33His	p.R33H	ENST00000334058	NM_181610.1	33	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS33534.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGCGGAAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF11759	.	.	ENSP00000335567	.	1/1	.	.	.	.	.	.	.	.	COSM1212880	1/1	PASS	ENST00000334058	Transcript	.	.	ENSG00000186967	18939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.17)	1	KR194_HUMAN	KRTAP19-4	HGNC	.	.	UPI00001A9E53	SNV	KRTAP19-4,missense_variant,p.Arg33His,ENST00000334058,;KRTAP19-5,downstream_gene_variant,,ENST00000334151,;	121	90	86	SUCCESS
DOPEY2	0	.	GRCh37	21	37581073	37581073	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	53	0	ENST00000399151.3:c.552C>A	p.Ala184=	p.A184=	ENST00000399151	NM_005128.2	184	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13643.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCCCTCTG	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042,Pfam_domain:PF04118	.	.	ENSP00000382104	.	5/37	.	.	.	.	.	.	.	.	.	5/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;RN7SL73P,downstream_gene_variant,,ENST00000585239,;DOPEY2,non_coding_transcript_exon_variant,,ENST00000492760,;	637	53	67	SUCCESS
PRODH	5625	.	GRCh37	22	18900834	18900834	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	31	159	0	ENST00000357068.6:c.1657C>G	p.Pro553Ala	p.P553A	ENST00000357068	NM_016335.4	553	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS13754.1	1657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGGGCCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF4,Pfam_domain:PF01619,Gene3D:3.20.20.220,Superfamily_domains:SSF51730	.	.	ENSP00000349577	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000357068	Transcript	.	.	ENSG00000100033	9453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PROD_HUMAN	PRODH	HGNC	E7EQL6_HUMAN,C9JIW4_HUMAN	.	UPI00001AE5E1	SNV	PRODH,missense_variant,p.Pro445Ala,ENST00000420436,;PRODH,missense_variant,p.Pro553Ala,ENST00000357068,;PRODH,missense_variant,p.Pro445Ala,ENST00000334029,;DGCR6,downstream_gene_variant,,ENST00000413981,;DGCR6,downstream_gene_variant,,ENST00000331444,;DGCR6,downstream_gene_variant,,ENST00000436645,;DGCR6,3_prime_UTR_variant,,ENST00000483718,;PRODH,non_coding_transcript_exon_variant,,ENST00000313755,;PRODH,non_coding_transcript_exon_variant,,ENST00000482858,;PRODH,non_coding_transcript_exon_variant,,ENST00000491604,;PRODH,non_coding_transcript_exon_variant,,ENST00000429300,;DGCR6,downstream_gene_variant,,ENST00000480608,;DGCR6,downstream_gene_variant,,ENST00000477156,;PRODH,downstream_gene_variant,,ENST00000609229,;DGCR6,downstream_gene_variant,,ENST00000427407,;	1923	159	116	SUCCESS
MYO18B	84700	.	GRCh37	22	26423225	26423225	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772798744	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	47	111	0	ENST00000536101.1:c.7285C>A	p.Pro2429Thr	p.P2429T	ENST00000536101		2429	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54507.1	7285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCCCAAGC	NONE	.	.	.	.	.	ENSP00000334563	.	43/44	.	.	.	.	.	.	.	.	rs772798744	43/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Pro2429Thr,ENST00000335473,;MYO18B,missense_variant,p.Pro379Thr,ENST00000543971,;MYO18B,missense_variant,p.Pro2430Thr,ENST00000407587,;MYO18B,missense_variant,p.Pro2429Thr,ENST00000536101,;MYO18B,missense_variant,p.Pro71Thr,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	7535	111	135	SUCCESS
KDELR3	11015	.	GRCh37	22	38878529	38878540	+	stop_lost,inframe_deletion	Nonstop_Mutation	DEL	AATGCCAATCTG	AATGCCAATCTG	-	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	AATGCCAATCTG	AATGCCAATCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	87	0	ENST00000216014.4:c.634_645del	p.Met212_Ter215delextTer9	p.M212_*215delext*9	ENST00000216014	NM_006855.3	212	ccAATGCCAATCTGa/cca	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46705.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTTCCAATGCCAATCTGAGGAC	NONE	.	889	.	.	.	ENSP00000386918	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409006	Transcript	.	.	ENSG00000100196	6306	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERD23_HUMAN	KDELR3	HGNC	.	.	UPI00001614FD	deletion	KDELR3,stop_lost,p.MetProIleTer212delextTer9,ENST00000216014,;DDX17,downstream_gene_variant,,ENST00000444597,;DDX17,downstream_gene_variant,,ENST00000403230,;DDX17,downstream_gene_variant,,ENST00000396821,;DDX17,downstream_gene_variant,,ENST00000381633,;KDELR3,downstream_gene_variant,,ENST00000409006,;KDELR3,non_coding_transcript_exon_variant,,ENST00000471268,;DDX17,downstream_gene_variant,,ENST00000431312,;DDX17,downstream_gene_variant,,ENST00000216019,;	.	87	54	SUCCESS
IL1R1	3554	.	GRCh37	2	102791045	102791045	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	29	0	ENST00000410023.1:c.992-2A>G		p.X331_splice	ENST00000410023		331		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2055.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATAGTCAC	NONE	.	.	.	.	.	ENSP00000386380	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410023	Transcript	.	.	ENSG00000115594	5993	.	.	HIGH	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL1R1_HUMAN	IL1R1	HGNC	C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN	.	UPI0000034759	SNV	IL1R1,splice_acceptor_variant,,ENST00000409288,;IL1R1,splice_acceptor_variant,,ENST00000424272,;IL1R1,splice_acceptor_variant,,ENST00000409329,;IL1R1,splice_acceptor_variant,,ENST00000409929,;IL1R1,splice_acceptor_variant,,ENST00000233946,;IL1R1,splice_acceptor_variant,,ENST00000410023,;IL1R1,splice_acceptor_variant,,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,splice_acceptor_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	.	29	31	SUCCESS
EPB41L5	57669	.	GRCh37	2	120848050	120848050	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	122	0	ENST00000263713.5:c.1001A>G	p.His334Arg	p.H334R	ENST00000263713	NM_020909.3	334	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2130.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCATCGAT	NONE	.	.	hmmpanther:PTHR23280:SF15,hmmpanther:PTHR23280,Superfamily_domains:SSF50729	.	.	ENSP00000263713	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000263713	Transcript	.	.	ENSG00000115109	19819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.2)	.	E41L5_HUMAN	EPB41L5	HGNC	Q53RT1_HUMAN,Q4ZG32_HUMAN	.	UPI00001B078A	SNV	EPB41L5,missense_variant,p.His334Arg,ENST00000331393,;EPB41L5,missense_variant,p.His334Arg,ENST00000443902,;EPB41L5,missense_variant,p.His334Arg,ENST00000263713,;EPB41L5,missense_variant,p.His334Arg,ENST00000452780,;EPB41L5,missense_variant,p.His334Arg,ENST00000443124,;EPB41L5,upstream_gene_variant,,ENST00000489017,;EPB41L5,upstream_gene_variant,,ENST00000461128,;	1215	122	102	SUCCESS
NBEAL1	65065	.	GRCh37	2	203987055	203987055	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	74	0	ENST00000449802.1:c.2584T>A	p.Trp862Arg	p.W862R	ENST00000449802	NM_001114132.1	862	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS46495.1	2584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACTGGGAC	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743	.	.	ENSP00000399903	.	18/55	.	.	.	.	.	.	.	.	.	18/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,missense_variant,p.Trp862Arg,ENST00000449802,;	2917	74	73	SUCCESS
ABCA12	26154	.	GRCh37	2	215813385	215813385	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	14	160	0	ENST00000272895.7:c.7039A>G	p.Thr2347Ala	p.T2347A	ENST00000272895	NM_173076.2	2347	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33372.1	7039	MUTECT|MUSE|VARSCANS	.	CACAGTTACCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	.	ENSP00000272895	.	47/53	.	.	.	.	.	.	.	.	.	47/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.566)	.	deleterious(0)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Thr2029Ala,ENST00000389661,;ABCA12,missense_variant,p.Thr2347Ala,ENST00000272895,;AC072062.1,intron_variant,,ENST00000607412,;	7259	160	148	SUCCESS
TRPM8	79054	.	GRCh37	2	234869711	234869711	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs187799320	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	82	0	ENST00000324695.4:c.1653+1G>A		p.X551_splice	ENST00000324695	NM_024080.4	551		0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS33407.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACGTAGGT	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000323926	A:0.001	.	.	.	.	.	.	.	.	.	rs187799320	.	PASS	ENST00000324695	Transcript	.	A:0.0002	ENSG00000144481	17961	.	.	HIGH	12/25	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,splice_donor_variant,,ENST00000324695,;TRPM8,splice_donor_variant,,ENST00000433712,;TRPM8,splice_donor_variant,,ENST00000444298,;TRPM8,upstream_gene_variant,,ENST00000490797,;TRPM8,downstream_gene_variant,,ENST00000487033,;	.	83	82	SUCCESS
GPAT2	150763	.	GRCh37	2	96690175	96690175	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs777443244	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	56	0	ENST00000359548.4:c.1669G>A	p.Ala557Thr	p.A557T	ENST00000359548	NM_207328.2	557	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42714.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCGCCCA	NONE	byFrequency	.	hmmpanther:PTHR12563:SF7,hmmpanther:PTHR12563	.	.	ENSP00000389395	.	16/23	.	.	.	.	.	.	.	.	rs777443244,COSM1715960	16/23	PASS	ENST00000434632	Transcript	.	.	ENSG00000186281	27168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.695)	.	deleterious(0)	0,1	GPAT2_HUMAN	GPAT2	HGNC	C9JYV5_HUMAN	.	UPI0000E5E123	SNV	GPAT2,missense_variant,p.Ala557Thr,ENST00000377137,;GPAT2,missense_variant,p.Ala557Thr,ENST00000359548,;GPAT2,missense_variant,p.Ala486Thr,ENST00000453542,;GPAT2,missense_variant,p.Ala557Thr,ENST00000434632,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;FAHD2CP,downstream_gene_variant,,ENST00000443258,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;FAHD2CP,downstream_gene_variant,,ENST00000467292,;GPAT2,splice_region_variant,,ENST00000484440,;GPAT2,splice_region_variant,,ENST00000471757,;GPAT2,splice_region_variant,,ENST00000486463,;GPAT2,splice_region_variant,,ENST00000482704,;FAHD2CP,downstream_gene_variant,,ENST00000427863,;	2129	56	64	SUCCESS
DZIP3	9666	.	GRCh37	3	108366815	108366815	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs779807969	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	231	22	217	0	ENST00000361582.3:c.1818T>A	p.Asn606Lys	p.N606K	ENST00000361582	NM_014648.3	606	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2952.1	1818	MUTECT|MUSE|VARSCANS	.	CAGAATGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	16/33	.	.	.	.	.	.	.	.	rs779807969	16/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	deleterious_low_confidence(0.01)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.Asn606Lys,ENST00000479138,;DZIP3,missense_variant,p.Asn606Lys,ENST00000463306,;DZIP3,missense_variant,p.Asn606Lys,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	2048	217	254	SUCCESS
SPICE1	152185	.	GRCh37	3	113176014	113176014	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	63	0	ENST00000295872.4:c.1626G>A	p.Lys542=	p.K542=	ENST00000295872	NM_144718.3	542	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS2973.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCTTCTG	NONE	.	.	hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2	.	.	ENSP00000295872	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000295872	Transcript	.	.	ENSG00000163611	25083	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPICE_HUMAN	SPICE1	HGNC	C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN	.	UPI000007328D	SNV	SPICE1,synonymous_variant,p.%3D,ENST00000295872,;SPICE1,intron_variant,,ENST00000467618,;SPICE1,non_coding_transcript_exon_variant,,ENST00000496105,;	1886	63	51	SUCCESS
COPB2	9276	.	GRCh37	3	139077908	139077908	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201811724	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	97	0	ENST00000333188.5:c.2416G>A	p.Val806Ile	p.V806I	ENST00000333188	NM_004766.2	806	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS3108.1	2416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAACAAAGG	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF005567,hmmpanther:PTHR19876	.	.	ENSP00000329419	.	19/22	.	.	.	.	.	.	.	.	rs201811724	19/22	PASS	ENST00000333188	Transcript	.	.	ENSG00000184432	2232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.17)	.	COPB2_HUMAN	COPB2	HGNC	D6RCL6_HUMAN,D6RBZ7_HUMAN,D6RBT6_HUMAN,D6RBG7_HUMAN,B4DZI8_HUMAN	.	UPI0000161FB4	SNV	COPB2,missense_variant,p.Val806Ile,ENST00000333188,;COPB2,missense_variant,p.Val20Ile,ENST00000503326,;COPB2,missense_variant,p.Val777Ile,ENST00000507777,;COPB2,intron_variant,,ENST00000512309,;MRPS22,downstream_gene_variant,,ENST00000495075,;MRPS22,downstream_gene_variant,,ENST00000465056,;MRPS22,downstream_gene_variant,,ENST00000310776,;MRPS22,downstream_gene_variant,,ENST00000478464,;COPB2,upstream_gene_variant,,ENST00000502734,;MRPS22,downstream_gene_variant,,ENST00000492644,;MRPS22,downstream_gene_variant,,ENST00000480938,;MRPS22,downstream_gene_variant,,ENST00000498505,;	2598	97	81	SUCCESS
PLOD2	5352	.	GRCh37	3	145878772	145878772	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	49	141	0	ENST00000360060.3:c.5G>A	p.Gly2Glu	p.G2E	ENST00000360060	NM_000935.2	2	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS3132.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCCCCATA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000282903	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000282903	Transcript	.	.	ENSG00000152952	9082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	deleterious_low_confidence(0.01)	.	PLOD2_HUMAN	PLOD2	HGNC	Q9Y6D3_HUMAN,Q96QU5_HUMAN,Q96AR9_HUMAN,E7ETU9_HUMAN	.	UPI0000049C44	SNV	PLOD2,missense_variant,p.Gly2Glu,ENST00000360060,;PLOD2,missense_variant,p.Gly2Glu,ENST00000282903,;PLOD2,5_prime_UTR_variant,,ENST00000494950,;PLOD2,intron_variant,,ENST00000469350,;PLOD2,missense_variant,p.Gly2Glu,ENST00000480704,;	183	141	143	SUCCESS
PLCH1	23007	.	GRCh37	3	155199724	155199724	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	86	0	ENST00000340059.7:c.4115C>A	p.Thr1372Lys	p.T1372K	ENST00000340059	NM_001130960.1	1372	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS46939.1	4115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTGTTAGA	NONE	.	.	.	.	.	ENSP00000345988	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000340059	Transcript	.	.	ENSG00000114805	29185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious_low_confidence(0)	.	PLCH1_HUMAN	PLCH1	HGNC	.	.	UPI00001D800E	SNV	PLCH1,missense_variant,p.Thr1334Lys,ENST00000334686,;PLCH1,missense_variant,p.Thr1334Lys,ENST00000414191,;PLCH1,missense_variant,p.Thr1372Lys,ENST00000340059,;PLCH1,missense_variant,p.Thr1334Lys,ENST00000460012,;PLCH1,3_prime_UTR_variant,,ENST00000447496,;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	4115	86	73	SUCCESS
MASP1	5648	.	GRCh37	3	186980347	186980347	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	121	252	0	ENST00000337774.5:c.399C>G	p.Ala133=	p.A133=	ENST00000337774	NM_001879.5	133	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS33908.1	399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGGGCATC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,PIRSF_domain:PIRSF001155,Superfamily_domains:SSF49854	.	.	ENSP00000296280	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000296280	Transcript	.	.	ENSG00000127241	6901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MASP1_HUMAN	MASP1	HGNC	Q9NSY8_HUMAN,C9JLU5_HUMAN	.	UPI000007256E	SNV	MASP1,synonymous_variant,p.%3D,ENST00000392475,;MASP1,synonymous_variant,p.%3D,ENST00000392470,;MASP1,synonymous_variant,p.%3D,ENST00000169293,;MASP1,synonymous_variant,p.%3D,ENST00000296280,;MASP1,synonymous_variant,p.%3D,ENST00000337774,;MASP1,synonymous_variant,p.%3D,ENST00000392472,;MASP1,downstream_gene_variant,,ENST00000425937,;MASP1,downstream_gene_variant,,ENST00000439271,;MASP1,non_coding_transcript_exon_variant,,ENST00000490558,;MASP1,non_coding_transcript_exon_variant,,ENST00000465015,;MASP1,intron_variant,,ENST00000495249,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;	625	252	283	SUCCESS
TOP2B	7155	.	GRCh37	3	25670387	25670387	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	301	40	331	0	ENST00000264331.4:c.1857del	p.Trp619Ter	p.W619*	ENST00000264331		619	tgG/tg	0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS46776.1	1842	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTTTCCATTC	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Gene3D:3.30.1490.30,SMART_domains:SM00433,Superfamily_domains:SSF56719	.	.	ENSP00000396704	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	deletion	TOP2B,frameshift_variant,p.Trp619Ter,ENST00000264331,;TOP2B,frameshift_variant,p.Trp614Ter,ENST00000435706,;TOP2B,frameshift_variant,p.Trp614Ter,ENST00000424225,;TOP2B,non_coding_transcript_exon_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;	2044	331	341	SUCCESS
FYCO1	79443	.	GRCh37	3	46010096	46010096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	22	0	ENST00000296137.2:c.730G>A	p.Val244Met	p.V244M	ENST00000296137	NM_024513.3	244	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS2734.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACCTCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851	.	.	ENSP00000296137	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.06)	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,missense_variant,p.Val244Met,ENST00000296137,;FYCO1,missense_variant,p.Val244Met,ENST00000535325,;	936	22	20	SUCCESS
DNAH1	25981	.	GRCh37	3	52387648	52387648	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	39	0	ENST00000420323.2:c.3479A>T	p.Gln1160Leu	p.Q1160L	ENST00000420323	NM_015512.4	1160	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46842.1	3479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCAGGTGG	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	20/78	.	.	.	.	.	.	.	.	.	20/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Gln1160Leu,ENST00000420323,;DNAH1,splice_region_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	3740	39	39	SUCCESS
SPATA12	353324	.	GRCh37	3	57107930	57107930	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	108	0	ENST00000334325.1:c.208C>G	p.Leu70Val	p.L70V	ENST00000334325	NM_181727.1	70	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2879.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCTGACA	NONE	.	.	.	.	.	ENSP00000335392	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334325	Transcript	.	.	ENSG00000186451	23221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	deleterious_low_confidence(0.03)	.	SPT12_HUMAN	SPATA12	HGNC	.	.	UPI00001A9456	SNV	SPATA12,missense_variant,p.Leu70Val,ENST00000334325,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000477833,;	883	108	101	SUCCESS
ALPK1	80216	.	GRCh37	4	113352274	113352274	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs779114074	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	92	0	ENST00000177648.9:c.1571G>C	p.Gly524Ala	p.G524A	ENST00000177648		524	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS3697.1	1571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGGTAAGA	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30	.	.	ENSP00000398048	.	11/16	.	.	.	.	.	.	.	.	rs779114074	11/16	PASS	ENST00000458497	Transcript	.	.	ENSG00000073331	20917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ALPK1_HUMAN	ALPK1	HGNC	.	.	UPI000045725F	SNV	ALPK1,missense_variant,p.Gly446Ala,ENST00000504176,;ALPK1,missense_variant,p.Gly524Ala,ENST00000458497,;ALPK1,missense_variant,p.Gly524Ala,ENST00000177648,;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	1850	92	116	SUCCESS
ANK2	287	.	GRCh37	4	114153356	114153356	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	79	0	ENST00000357077.4:c.424C>T	p.His142Tyr	p.H142Y	ENST00000357077	NM_001148.4	142	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS3702.1	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATCACATT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000349588	.	5/46	.	.	.	.	.	.	.	.	.	5/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.His121Tyr,ENST00000503271,;ANK2,missense_variant,p.His142Tyr,ENST00000264366,;ANK2,missense_variant,p.His121Tyr,ENST00000503423,;ANK2,missense_variant,p.His142Tyr,ENST00000394537,;ANK2,missense_variant,p.His7Tyr,ENST00000515034,;ANK2,missense_variant,p.His121Tyr,ENST00000506722,;ANK2,missense_variant,p.His142Tyr,ENST00000357077,;ANK2,missense_variant,p.His157Tyr,ENST00000504454,;ANK2,missense_variant,p.His157Tyr,ENST00000508613,;	477	79	70	SUCCESS
ANKRD50	57182	.	GRCh37	4	125593424	125593424	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	69	144	0	ENST00000504087.1:c.1008G>C	p.Trp336Cys	p.W336C	ENST00000504087	NM_020337.2	336	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS34060.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCAGAG	NONE	.	.	hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151	.	.	ENSP00000425658	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000504087	Transcript	.	.	ENSG00000151458	29223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ANR50_HUMAN	ANKRD50	HGNC	Q8TB46_HUMAN	.	UPI00002377E8	SNV	ANKRD50,missense_variant,p.Trp336Cys,ENST00000504087,;ANKRD50,missense_variant,p.Trp157Cys,ENST00000515641,;	2046	144	166	SUCCESS
PDGFC	56034	.	GRCh37	4	157732066	157732066	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	280	21	314	0	ENST00000502773.1:c.418A>G	p.Ile140Val	p.I140V	ENST00000502773	NM_016205.2	140	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3795.1	418	MUTECT|MUSE	.	CCTAATTTGAT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF570,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000422464	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000502773	Transcript	.	.	ENSG00000145431	8801	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.309)	.	tolerated(0.05)	.	PDGFC_HUMAN	PDGFC	HGNC	.	.	UPI0000034814	SNV	PDGFC,missense_variant,p.Ile140Val,ENST00000502773,;PDGFC,missense_variant,p.Ile140Val,ENST00000422544,;PDGFC,5_prime_UTR_variant,,ENST00000541126,;PDGFC,intron_variant,,ENST00000542208,;PDGFC,intron_variant,,ENST00000512711,;PDGFC,upstream_gene_variant,,ENST00000511985,;PDGFC,3_prime_UTR_variant,,ENST00000274071,;PDGFC,intron_variant,,ENST00000506880,;	909	314	301	SUCCESS
WHSC1	0	.	GRCh37	4	1920344	1920344	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764959960	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	42	121	0	ENST00000382895.3:c.1404G>T	p.Arg468Ser	p.R468S	ENST00000382895	NM_133330.2	468	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS33940.1	1404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGGATGA	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000372351	.	7/24	.	.	.	.	.	.	.	.	rs764959960	7/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	tolerated(0.07)	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,missense_variant,p.Arg468Ser,ENST00000508803,;WHSC1,missense_variant,p.Arg468Ser,ENST00000398261,;WHSC1,missense_variant,p.Arg468Ser,ENST00000503128,;WHSC1,missense_variant,p.Arg468Ser,ENST00000420906,;WHSC1,missense_variant,p.Arg468Ser,ENST00000382892,;WHSC1,missense_variant,p.Arg468Ser,ENST00000382895,;WHSC1,missense_variant,p.Arg468Ser,ENST00000514045,;WHSC1,missense_variant,p.Arg468Ser,ENST00000382891,;WHSC1,downstream_gene_variant,,ENST00000509115,;WHSC1,missense_variant,p.Arg62Ser,ENST00000511904,;WHSC1,missense_variant,p.Arg468Ser,ENST00000353275,;WHSC1,missense_variant,p.Arg468Ser,ENST00000312087,;WHSC1,non_coding_transcript_exon_variant,,ENST00000508355,;WHSC1,downstream_gene_variant,,ENST00000512700,;	1835	121	128	SUCCESS
TNIP2	79155	.	GRCh37	4	2749465	2749465	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201862092	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	21	0	ENST00000315423.7:c.484G>A	p.Ala162Thr	p.A162T	ENST00000315423	NM_024309.3	162	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS3362.1	484	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGGTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF4	T:0	.	ENSP00000321203	T:0.001	2/6	.	.	.	.	.	.	.	.	rs201862092	2/6	PASS	ENST00000315423	Transcript	.	T:0.0002	ENSG00000168884	19118	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	T:0	deleterious(0)	.	TNIP2_HUMAN	TNIP2	HGNC	.	.	UPI00000702D2	SNV	TNIP2,missense_variant,p.Ala162Thr,ENST00000503235,;TNIP2,missense_variant,p.Ala162Thr,ENST00000315423,;TNIP2,missense_variant,p.Ala55Thr,ENST00000510267,;TNIP2,upstream_gene_variant,,ENST00000505186,;TNIP2,non_coding_transcript_exon_variant,,ENST00000511352,;TNIP2,non_coding_transcript_exon_variant,,ENST00000507686,;TNIP2,upstream_gene_variant,,ENST00000502256,;	571	21	33	SUCCESS
PCDH7	5099	.	GRCh37	4	30724132	30724132	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1355679466	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	17	125	0	ENST00000361762.2:c.1088C>T	p.Thr363Met	p.T363M	ENST00000361762	NM_002589.2	363	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS54753.1	1088	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGACGTCCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.565)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Thr53Met,ENST00000511884,;PCDH7,missense_variant,p.Thr363Met,ENST00000543491,;PCDH7,missense_variant,p.Thr363Met,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000507864,;	1088	125	112	SUCCESS
ZNF721	170960	.	GRCh37	4	435883	435883	+	synonymous_variant	Silent	SNP	C	C	T	rs371250652	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	91	0	ENST00000338977.5:c.2337G>A	p.Thr779=	p.T779=	ENST00000338977		779	acG/acA	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS46991.1	2373	RADIA|MUTECT|MUSE|VARSCANS	.	GATGACGTAAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	T:0.0001	ENSP00000428878	.	3/3	.	.	.	.	.	.	.	.	rs371250652,COSM1055568,COSM1055567	3/3	PASS	ENST00000511833	Transcript	.	.	ENSG00000182903	29425	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	ZN721_HUMAN	ZNF721	HGNC	.	.	UPI0000E9B4A9	SNV	ZNF721,synonymous_variant,p.%3D,ENST00000338977,;ZNF721,synonymous_variant,p.%3D,ENST00000511833,;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000514396,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ZNF721,intron_variant,,ENST00000515578,;	2567	91	88	SUCCESS
ANKRD17	26057	.	GRCh37	4	73943153	73943153	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	64	0	ENST00000358602.4:c.7506A>T	p.Arg2502=	p.R2502=	ENST00000358602	NM_032217.3	2502	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34004.1	7506	RADIA|MUTECT|MUSE|VARSCANS	.	CTATCTCGCTC	NONE	.	.	hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	.	.	ENSP00000351416	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	SNV	ANKRD17,synonymous_variant,p.%3D,ENST00000358602,;ANKRD17,synonymous_variant,p.%3D,ENST00000509867,;ANKRD17,synonymous_variant,p.%3D,ENST00000330838,;ANKRD17,synonymous_variant,p.%3D,ENST00000558247,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000510127,;	7623	64	91	SUCCESS
WDR36	134430	.	GRCh37	5	110432780	110432780	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1445451204	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	43	0	ENST00000506538.2:c.362A>G	p.Asn121Ser	p.N121S	ENST00000506538	NM_139281.2	121	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS4102.1	362	MUTECT|MUSE	.	AGGTAATTCTG	NONE	.	.	hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000423067	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.952)	.	tolerated(0.25)	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,missense_variant,p.Asn121Ser,ENST00000513710,;WDR36,missense_variant,p.Asn121Ser,ENST00000506538,;WDR36,missense_variant,p.Asn65Ser,ENST00000505303,;WDR36,5_prime_UTR_variant,,ENST00000504122,;CTC-551A13.2,upstream_gene_variant,,ENST00000507269,;WDR36,downstream_gene_variant,,ENST00000515784,;	935	43	70	SUCCESS
HMGXB3	22993	.	GRCh37	5	149427232	149427232	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1262085236	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	16	96	0	ENST00000502717.1:c.2996A>G	p.Lys999Arg	p.K999R	ENST00000502717	NM_014983.2	999	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS54935.1	2996	MUTECT|MUSE|VARSCANS	.	CTGCAAGCTTG	NONE	.	.	hmmpanther:PTHR17609:SF0,hmmpanther:PTHR17609	.	.	ENSP00000421917	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000502717	Transcript	.	.	ENSG00000113716	28982	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.93)	.	HMGX3_HUMAN	HMGXB3	HGNC	Q6P442_HUMAN	.	UPI00001C1E29	SNV	HMGXB3,missense_variant,p.Lys999Arg,ENST00000502717,;HMGXB3,missense_variant,p.Lys967Arg,ENST00000503427,;HMGXB3,3_prime_UTR_variant,,ENST00000514469,;HMGXB3,non_coding_transcript_exon_variant,,ENST00000510472,;	3460	96	167	SUCCESS
FAM193B	54540	.	GRCh37	5	176952090	176952090	+	synonymous_variant	Silent	SNP	C	C	T	rs371452748	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	23	134	0	ENST00000514747.1:c.1392G>A	p.Leu464=	p.L464=	ENST00000514747	NM_001190946.1	464	ctG/ctA	0	T:0.0003	.	.	.	.	T	L	protein_coding	YES	CCDS54954.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCCAGTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15109,hmmpanther:PTHR15109:SF3	.	T:0	ENSP00000422131	.	6/9	.	.	.	.	.	.	.	.	rs371452748	6/9	PASS	ENST00000514747	Transcript	.	.	ENSG00000146067	25524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F193B_HUMAN	FAM193B	HGNC	D6RDZ2_HUMAN,D6RC29_HUMAN,D6RAX9_HUMAN	.	UPI0001D3BB6A	SNV	FAM193B,synonymous_variant,p.%3D,ENST00000329540,;FAM193B,synonymous_variant,p.%3D,ENST00000524677,;FAM193B,synonymous_variant,p.%3D,ENST00000443375,;FAM193B,synonymous_variant,p.%3D,ENST00000514747,;FAM193B,upstream_gene_variant,,ENST00000504130,;FAM193B,downstream_gene_variant,,ENST00000508298,;FAM193B,upstream_gene_variant,,ENST00000505241,;FAM193B,3_prime_UTR_variant,,ENST00000510479,;FAM193B,3_prime_UTR_variant,,ENST00000506955,;FAM193B,3_prime_UTR_variant,,ENST00000510163,;FAM193B,non_coding_transcript_exon_variant,,ENST00000505569,;FAM193B,non_coding_transcript_exon_variant,,ENST00000513502,;FAM193B,upstream_gene_variant,,ENST00000513282,;FAM193B,upstream_gene_variant,,ENST00000506879,;FAM193B,upstream_gene_variant,,ENST00000507212,;	1441	134	138	SUCCESS
LATS1	9113	.	GRCh37	6	149997738	149997738	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	57	0	ENST00000253339.5:c.2729T>C	p.Leu910Ser	p.L910S	ENST00000253339		910	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS34551.1	2729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCAAAGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000437550	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000543571	Transcript	.	.	ENSG00000131023	6514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LATS1_HUMAN	LATS1	HGNC	.	.	UPI0000073DC2	SNV	LATS1,missense_variant,p.Leu910Ser,ENST00000253339,;LATS1,missense_variant,p.Leu910Ser,ENST00000543571,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;	3277	57	47	SUCCESS
CMAHP	8418	.	GRCh37	6	25087020	25087020	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	26	0	ENST00000377989.4:n.2070C>A		p.*690*	ENST00000377989				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGTATAT	NONE	.	.	.	.	.	.	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000377989	Transcript	.	.	ENSG00000168405	2098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CMAHP	HGNC	.	.	.	SNV	CMAHP,non_coding_transcript_exon_variant,,ENST00000377989,;CMAHP,non_coding_transcript_exon_variant,,ENST00000493257,;CMAHP,non_coding_transcript_exon_variant,,ENST00000490939,;CMAHP,upstream_gene_variant,,ENST00000471416,;CMAHP,non_coding_transcript_exon_variant,,ENST00000436589,;CMAHP,non_coding_transcript_exon_variant,,ENST00000377993,;	2070	26	57	SUCCESS
LEMD2	221496	.	GRCh37	6	33754718	33754718	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	48	0	ENST00000293760.5:c.737-167A>G		p.*246*	ENST00000293760	NM_181336.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4785.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAATGTAAG	NONE	.	.	.	.	.	ENSP00000293760	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293760	Transcript	.	.	ENSG00000161904	21244	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LEMD2_HUMAN	LEMD2	HGNC	D6RBV0_HUMAN,D6R958_HUMAN	.	UPI000006DAEA	SNV	LEMD2,5_prime_UTR_variant,,ENST00000513701,;LEMD2,5_prime_UTR_variant,,ENST00000508327,;LEMD2,intron_variant,,ENST00000442696,;LEMD2,intron_variant,,ENST00000293760,;LEMD2,intron_variant,,ENST00000421671,;LEMD2,upstream_gene_variant,,ENST00000514636,;LEMD2,upstream_gene_variant,,ENST00000511171,;LEMD2,upstream_gene_variant,,ENST00000512368,;	.	48	40	SUCCESS
ABCC10	89845	.	GRCh37	6	43395643	43395646	+	intron_variant	Intron	DEL	TGGG	TGGG	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	TGGG	TGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	129	15	119	0	ENST00000372530.4:c.-11-63_-11-60delinsA		p.*4*	ENST00000372530	NM_001198934.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56430.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	CCCGGCTGGGAAGTG	NONE	.	.	.	.	.	ENSP00000361608	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODIFIER	1/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	substitution	ABCC10,intron_variant,,ENST00000372530,;ABCC10,intron_variant,,ENST00000372515,;ABCC10,upstream_gene_variant,,ENST00000244533,;ABCC10,non_coding_transcript_exon_variant,,ENST00000443426,;ABCC10,intron_variant,,ENST00000502549,;	.	119	144	SUCCESS
DST	667	.	GRCh37	6	56481396	56481397	+	intron_variant	Intron	INS	-	-	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	78	0	ENST00000244364.6:c.3319-2115dup		p.*1107*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47443.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACTCTTGTG	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	22/83	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	insertion	DST,frameshift_variant,p.Arg2290LysfsTer5,ENST00000370765,;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000522360,;	.	78	68	SUCCESS
OFCC1	266553	.	GRCh37	6	9897126	9897126	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	39	0	ENST00000460363.2:c.343+11625A>T		p.*115*	ENST00000460363				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	AATCTTTGCTC	NONE	.	.	.	.	.	ENSP00000419718	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000460363	Transcript	.	.	ENSG00000181355	21017	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OFCC1	HGNC	Q8IZS0_HUMAN	.	UPI00000740B8	SNV	OFCC1,missense_variant,p.Gln274His,ENST00000316020,;OFCC1,intron_variant,,ENST00000492169,;OFCC1,intron_variant,,ENST00000460363,;OFCC1,downstream_gene_variant,,ENST00000491508,;OFCC1,non_coding_transcript_exon_variant,,ENST00000466385,;OFCC1,non_coding_transcript_exon_variant,,ENST00000472329,;OFCC1,intron_variant,,ENST00000460066,;OFCC1,missense_variant,p.Gln116His,ENST00000469656,;OFCC1,missense_variant,p.Gln216His,ENST00000469426,;OFCC1,intron_variant,,ENST00000486246,;OFCC1,intron_variant,,ENST00000487015,;OFCC1,intron_variant,,ENST00000492094,;	.	39	51	SUCCESS
PIK3CG	5294	.	GRCh37	7	106508205	106508205	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	79	0	ENST00000359195.3:c.199G>A	p.Val67Met	p.V67M	ENST00000359195	NM_002649.2	67	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS5739.1	199	MUTECT|MUSE	.	GCAACGTGGAG	NONE	.	.	PROSITE_profiles:PS51544,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34	.	.	ENSP00000352121	.	2/11	.	.	.	.	.	.	.	.	COSM1622177	2/11	PASS	ENST00000359195	Transcript	.	.	ENSG00000105851	8978	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	PK3CG_HUMAN	PIK3CG	HGNC	Q24M88_HUMAN,E9PDN7_HUMAN	.	UPI00000746B8	SNV	PIK3CG,missense_variant,p.Val67Met,ENST00000496166,;PIK3CG,missense_variant,p.Val67Met,ENST00000359195,;PIK3CG,missense_variant,p.Val67Met,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	509	79	66	SUCCESS
GCC1	79571	.	GRCh37	7	127222196	127222196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	23	201	0	ENST00000321407.2:c.2200C>T	p.Pro734Ser	p.P734S	ENST00000321407	NM_024523.5	734	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS5796.1	2200	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGTAAGG	NONE	.	.	PROSITE_profiles:PS50913,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25,Pfam_domain:PF01465,Gene3D:1uptF00,SMART_domains:SM00755	.	.	ENSP00000318821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321407	Transcript	.	.	ENSG00000179562	19095	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.067)	.	tolerated(0.48)	.	GCC1_HUMAN	GCC1	HGNC	A4D0Z4_HUMAN	.	UPI0000072BA8	SNV	GCC1,missense_variant,p.Pro734Ser,ENST00000321407,;GCC1,downstream_gene_variant,,ENST00000497650,;	2625	201	221	SUCCESS
UBE2H	7328	.	GRCh37	7	129474880	129474880	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	45	0	ENST00000355621.3:c.449C>G	p.Thr150Arg	p.T150R	ENST00000355621	NM_003344.3	150	aCg/aGg	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS5814.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGTGGCG	NONE	.	.	hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF0,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000347836	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000355621	Transcript	.	.	ENSG00000186591	12484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	deleterious(0.05)	.	UBE2H_HUMAN	UBE2H	HGNC	A4D1L5_HUMAN	.	UPI0000006BD3	SNV	UBE2H,missense_variant,p.Thr150Arg,ENST00000355621,;UBE2H,missense_variant,p.Thr119Arg,ENST00000473814,;UBE2H,missense_variant,p.Thr117Arg,ENST00000496698,;UBE2H,downstream_gene_variant,,ENST00000472396,;UBE2H,non_coding_transcript_exon_variant,,ENST00000483368,;UBE2H,downstream_gene_variant,,ENST00000480245,;	843	45	47	SUCCESS
LANCL2	55915	.	GRCh37	7	55466207	55466207	+	synonymous_variant	Silent	SNP	G	G	T	rs767969530	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	104	0	ENST00000254770.2:c.414G>T	p.Arg138=	p.R138=	ENST00000254770	NM_018697.3	138	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5517.1	414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCGGAATCT	NONE	.	.	hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF11,Pfam_domain:PF05147,Superfamily_domains:0053930	.	.	ENSP00000254770	.	3/9	.	.	.	.	.	.	.	.	rs767969530,COSM370594	3/9	PASS	ENST00000254770	Transcript	.	.	ENSG00000132434	6509	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LANC2_HUMAN	LANCL2	HGNC	B4DWZ7_HUMAN	.	UPI000006F7D0	SNV	LANCL2,synonymous_variant,p.%3D,ENST00000254770,;LANCL2,non_coding_transcript_exon_variant,,ENST00000486376,;LANCL2,3_prime_UTR_variant,,ENST00000452107,;	992	104	93	SUCCESS
SEMA3A	10371	.	GRCh37	7	83643585	83643585	+	synonymous_variant	Silent	SNP	A	A	G	rs774084495	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	63	0	ENST00000265362.4:c.750T>C	p.Asn250=	p.N250=	ENST00000265362	NM_006080.2	250	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS5599.1	750	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCATTTTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265362	.	7/17	.	.	.	.	.	.	.	.	rs774084495	7/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	1065	63	52	SUCCESS
NOV	0	.	GRCh37	8	120430340	120430340	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778838879	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	234	25	110	0	ENST00000259526.3:c.353G>A	p.Arg118His	p.R118H	ENST00000259526	NM_002514.3	118	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6328.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCGCAGTG	SITE|p.R118H|c.353G>A|3	byFrequency	.	Superfamily_domains:SSF57603,PIRSF_domain:PIRSF036495,SMART_domains:SM00214,Pfam_domain:PF00093,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS50184	.	.	ENSP00000259526	.	3/5	.	.	.	.	.	.	.	.	rs778838879,COSM1095437	3/5	PASS	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.052)	.	tolerated(0.23)	0,1	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,missense_variant,p.Arg118His,ENST00000259526,;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	580	110	259	SUCCESS
ASH2L	9070	.	GRCh37	8	37986410	37986410	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs539322046	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	71	0	ENST00000343823.6:c.1468A>G	p.Ile490Val	p.I490V	ENST00000343823	NM_004674.4	490	Att/Gtt	0	.	C:0.0008	.	C:0	.	G	I/V	protein_coding	YES	CCDS6101.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATATTAAT	NONE	by1000G	.	PROSITE_profiles:PS50188,hmmpanther:PTHR10598,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	C:0	.	ENSP00000340896	C:0	12/16	.	.	.	.	.	.	.	.	rs539322046	12/16	PASS	ENST00000343823	Transcript	.	C:0.0002	ENSG00000129691	744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	C:0	deleterious(0.02)	.	ASH2L_HUMAN	ASH2L	HGNC	F5H8F7_HUMAN	.	UPI0000038D65	SNV	ASH2L,missense_variant,p.Ile351Val,ENST00000545394,;ASH2L,missense_variant,p.Ile396Val,ENST00000250635,;ASH2L,missense_variant,p.Ile396Val,ENST00000428278,;ASH2L,missense_variant,p.Ile86Val,ENST00000524247,;ASH2L,missense_variant,p.Ile396Val,ENST00000521652,;ASH2L,missense_variant,p.Ile490Val,ENST00000343823,;RP11-90P5.5,downstream_gene_variant,,ENST00000476186,;ASH2L,3_prime_UTR_variant,,ENST00000517496,;ASH2L,downstream_gene_variant,,ENST00000518186,;	1777	71	69	SUCCESS
TXNDC8	255220	.	GRCh37	9	113065906	113065906	+	intron_variant	Intron	SNP	T	T	C	rs368733286	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	56	235	0	ENST00000374511.3:c.322-43A>G		p.*108*	ENST00000374511				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35104.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTGCTGC	NONE	byCluster	.	.	.	.	ENSP00000363634	.	6/6	.	.	.	.	.	.	.	.	rs368733286	6/6	PASS	ENST00000374510	Transcript	.	.	ENSG00000204193	31454	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXND8_HUMAN	TXNDC8	HGNC	.	.	UPI00001613DC	SNV	TXNDC8,3_prime_UTR_variant,,ENST00000423740,;TXNDC8,3_prime_UTR_variant,,ENST00000374510,;TXNDC8,intron_variant,,ENST00000374511,;	416	235	222	SUCCESS
CLTA	1211	.	GRCh37	9	36191016	36191016	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	29	0	ENST00000242285.6:c.-38G>T		p.*13*	ENST00000242285				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6601.1	.	MUTECT|MUSE	.	TTTTTGTCTCA	NONE	.	.	.	.	.	ENSP00000242285	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000242285	Transcript	.	.	ENSG00000122705	2090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLCA_HUMAN	CLTA	HGNC	.	.	UPI0000127A9E	SNV	CLTA,5_prime_UTR_variant,,ENST00000433436,;CLTA,5_prime_UTR_variant,,ENST00000466396,;CLTA,5_prime_UTR_variant,,ENST00000345519,;CLTA,5_prime_UTR_variant,,ENST00000540080,;CLTA,5_prime_UTR_variant,,ENST00000538225,;CLTA,5_prime_UTR_variant,,ENST00000396603,;CLTA,5_prime_UTR_variant,,ENST00000470744,;CLTA,5_prime_UTR_variant,,ENST00000242285,;CLTA,5_prime_UTR_variant,,ENST00000464497,;CLTA,upstream_gene_variant,,ENST00000493185,;	83	29	24	SUCCESS
FBXO10	26267	.	GRCh37	9	37541364	37541364	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	88	0	ENST00000432825.2:c.402T>C	p.Ile134=	p.I134=	ENST00000432825	NM_012166.2	134	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS47966.1	402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAATTCG	NONE	.	.	hmmpanther:PTHR22990,Gene3D:2.160.20.10,Superfamily_domains:SSF51126	.	.	ENSP00000403802	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000432825	Transcript	.	.	ENSG00000147912	13589	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX10_HUMAN	FBXO10	HGNC	Q08AL4_HUMAN,F5GXN9_HUMAN	.	UPI00001C1EC6	SNV	FBXO10,synonymous_variant,p.%3D,ENST00000432825,;FBXO10,intron_variant,,ENST00000541829,;FBXO10,downstream_gene_variant,,ENST00000541607,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,synonymous_variant,p.%3D,ENST00000276960,;RP11-613M10.8,3_prime_UTR_variant,,ENST00000537239,;	451	88	76	SUCCESS
FGD3	89846	.	GRCh37	9	95780470	95780470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	60	0	ENST00000337352.6:c.1328G>T	p.Arg443Ile	p.R443I	ENST00000337352	NM_033086.2	443	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS43849.1	1328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGAAAAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000364631	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0)	.	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,missense_variant,p.Arg443Ile,ENST00000416701,;FGD3,missense_variant,p.Arg46Ile,ENST00000538555,;FGD3,missense_variant,p.Arg443Ile,ENST00000375482,;FGD3,missense_variant,p.Arg443Ile,ENST00000337352,;FGD3,non_coding_transcript_exon_variant,,ENST00000494553,;FGD3,missense_variant,p.Arg443Ile,ENST00000467786,;	1824	60	68	SUCCESS
NINJ1	4814	.	GRCh37	9	95888799	95888799	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	9	101	0	ENST00000375446.4:c.197C>T	p.Ala66Val	p.A66V	ENST00000375446	NM_004148.3	66	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6703.1	197	MUTECT|MUSE|VARSCANS	.	CGACGGCCTTC	NONE	.	.	hmmpanther:PTHR12316:SF16,hmmpanther:PTHR12316,Pfam_domain:PF04923	.	.	ENSP00000364595	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000375446	Transcript	.	.	ENSG00000131669	7824	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.983)	.	deleterious(0.05)	.	NINJ1_HUMAN	NINJ1	HGNC	.	.	UPI000013CE09	SNV	NINJ1,missense_variant,p.Ala66Val,ENST00000375446,;NINJ1,non_coding_transcript_exon_variant,,ENST00000470314,;NINJ1,non_coding_transcript_exon_variant,,ENST00000461162,;NINJ1,non_coding_transcript_exon_variant,,ENST00000490564,;NINJ1,upstream_gene_variant,,ENST00000489274,;	268	101	93	SUCCESS
H2BFWT	0	.	GRCh37	X	103268245	103268245	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	17	135	0	ENST00000217926.5:c.-13G>C		p.*5*	ENST00000217926	NM_001002916.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35362.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTCGGGCC	NONE	.	.	.	.	.	ENSP00000354723	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000217926	Transcript	.	.	ENSG00000123569	27252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H2BWT_HUMAN	H2BFWT	HGNC	.	.	UPI000019736A	SNV	H2BFWT,5_prime_UTR_variant,,ENST00000217926,;H2BFM,upstream_gene_variant,,ENST00000243297,;	15	135	138	SUCCESS
MUM1L1	0	.	GRCh37	X	105450458	105450458	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	29	164	0	ENST00000337685.2:c.1033T>A	p.Phe345Ile	p.F345I	ENST00000337685	NM_152423.4	345	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS55469.1	1033	RADIA|MUSE|VARSCANS	.	TGGATTTTGAA	NONE	.	.	hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF3	.	.	ENSP00000338641	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337685	Transcript	.	.	ENSG00000157502	26583	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.32)	.	MUML1_HUMAN	MUM1L1	HGNC	.	.	UPI0000212206	SNV	MUM1L1,missense_variant,p.Phe345Ile,ENST00000357175,;MUM1L1,missense_variant,p.Phe345Ile,ENST00000337685,;MUM1L1,missense_variant,p.Phe345Ile,ENST00000372552,;	1818	164	139	SUCCESS
LUZP4	51213	.	GRCh37	X	114536617	114536617	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	371	217	563	0	ENST00000371920.3:c.152G>T	p.Arg51Ile	p.R51I	ENST00000371920	NM_016383.3	51	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS14567.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAGACAGA	NONE	.	.	hmmpanther:PTHR22550:SF6,hmmpanther:PTHR22550	.	.	ENSP00000360988	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000371920	Transcript	.	.	ENSG00000102021	24971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	tolerated(0.08)	.	LUZP4_HUMAN	LUZP4	HGNC	.	.	UPI0000036093	SNV	LUZP4,missense_variant,p.Asp9Tyr,ENST00000451986,;LUZP4,missense_variant,p.Arg51Ile,ENST00000371920,;LUZP4,missense_variant,p.Arg51Ile,ENST00000371921,;	159	563	588	SUCCESS
ZIC3	7547	.	GRCh37	X	136649300	136649300	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	109	0	ENST00000287538.5:c.450A>T	p.Pro150=	p.P150=	ENST00000287538	NM_003413.3	150	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14663.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGCTGG	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF25	.	.	ENSP00000287538	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000287538	Transcript	.	.	ENSG00000156925	12874	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZIC3_HUMAN	ZIC3	HGNC	.	.	UPI000013C3DD	SNV	ZIC3,synonymous_variant,p.%3D,ENST00000287538,;ZIC3,synonymous_variant,p.%3D,ENST00000370606,;RP1-137H15.2,upstream_gene_variant,,ENST00000442841,;RP1-137H15.2,upstream_gene_variant,,ENST00000456631,;ZIC3,upstream_gene_variant,,ENST00000478471,;	1000	109	100	SUCCESS
IL9R	3581	.	GRCh37	X	155239595	155239595	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1027332393	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	80	0	ENST00000244174.5:c.1087C>G	p.Pro363Ala	p.P363A	ENST00000244174	NM_002186.2	363	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS14771.4	1087	MUTECT|MUSE|VARSCANS	.	GTGGCCCAGCG	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,missense_variant,p.Pro363Ala,ENST00000244174,;IL9R,missense_variant,p.Pro342Ala,ENST00000424344,;IL9R,3_prime_UTR_variant,,ENST00000369423,;IL9R,3_prime_UTR_variant,,ENST00000540897,;WASIR1,downstream_gene_variant,,ENST00000399966,;IL9R,downstream_gene_variant,,ENST00000494962,;AJ271736.10,intron_variant,,ENST00000483543,;	1266	80	78	SUCCESS
BMX	660	.	GRCh37	X	15555298	15555298	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	23	190	0	ENST00000342014.6:c.1264G>C	p.Glu422Gln	p.E422Q	ENST00000342014	NM_001721.6	422	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS14168.1	1264	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGAGCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112,Superfamily_domains:SSF55550	.	.	ENSP00000350224	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000357607	Transcript	.	.	ENSG00000102010	1079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.298)	.	deleterious(0.01)	.	BMX_HUMAN	BMX	HGNC	.	.	UPI0000000DFF	SNV	BMX,missense_variant,p.Glu422Gln,ENST00000348343,;BMX,missense_variant,p.Glu422Gln,ENST00000357607,;BMX,missense_variant,p.Glu422Gln,ENST00000342014,;BMX,non_coding_transcript_exon_variant,,ENST00000489983,;	1452	190	196	SUCCESS
DMD	1756	.	GRCh37	X	32382769	32382769	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1228213218	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	101	0	ENST00000357033.4:c.5084T>A	p.Ile1695Asn	p.I1695N	ENST00000357033	NM_004007.2	1695	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS14233.1	5084	MUTECT|MUSE	.	GAATGATCCAC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	36/79	.	.	.	.	.	.	.	.	.	36/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.506)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Ile1695Asn,ENST00000357033,;DMD,missense_variant,p.Ile1691Asn,ENST00000378677,;DMD,downstream_gene_variant,,ENST00000448370,;DMD,downstream_gene_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	5291	101	86	SUCCESS
ZNF674	641339	.	GRCh37	X	46359734	46359734	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	8	67	0	ENST00000523374.1:c.1290C>T	p.Val430=	p.V430=	ENST00000523374	NM_001039891.2	430	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS48099.1	1290	MUTECT|MUSE|VARSCANS	.	TGATGGACAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF125,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000429148	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000523374	Transcript	.	.	ENSG00000251192	17625	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN674_HUMAN	ZNF674	HGNC	.	.	UPI0000684253	SNV	ZNF674,synonymous_variant,p.%3D,ENST00000523374,;ZNF674,synonymous_variant,p.%3D,ENST00000414387,;KRBOX4,downstream_gene_variant,,ENST00000478600,;ZNF674,downstream_gene_variant,,ENST00000518795,;	1501	67	94	SUCCESS
SYN1	6853	.	GRCh37	X	47434654	47434654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	226	27	247	0	ENST00000295987.7:c.1178C>T	p.Pro393Leu	p.P393L	ENST00000295987	NM_006950.3	393	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14280.1	1178	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGGCATG	NONE	.	.	hmmpanther:PTHR10841,hmmpanther:PTHR10841:SF8,Gene3D:3.30.470.20,Pfam_domain:PF02750,Superfamily_domains:SSF56059	.	.	ENSP00000295987	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000295987	Transcript	.	.	ENSG00000008056	11494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.655)	.	deleterious(0)	.	SYN1_HUMAN	SYN1	HGNC	.	.	UPI0000167B47	SNV	SYN1,missense_variant,p.Pro393Leu,ENST00000340666,;SYN1,missense_variant,p.Pro393Leu,ENST00000295987,;ARAF,downstream_gene_variant,,ENST00000377045,;ARAF,downstream_gene_variant,,ENST00000470206,;	1303	247	253	SUCCESS
MYO3A	53904	.	GRCh37	10	26312983	26312983	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	41	94	0	ENST00000265944.5:c.764T>C	p.Leu255Pro	p.L255P	ENST00000265944	NM_017433.4	255	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS7148.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCTATGGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS50011	.	.	ENSP00000265944	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.555)	.	tolerated(0.12)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Leu255Pro,ENST00000265944,;MYO3A,missense_variant,p.Leu255Pro,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000376302,;	930	94	125	SUCCESS
ANKRD26	22852	.	GRCh37	10	27356167	27356167	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	45	0	ENST00000376087.4:c.1126A>G	p.Ile376Val	p.I376V	ENST00000376087	NM_014915.2	376	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS41499.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATATCAA	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	10/34	.	.	.	.	.	.	.	.	.	10/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.5)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Ile376Val,ENST00000376087,;ANKRD26,missense_variant,p.Ile425Val,ENST00000436985,;ANKRD26,non_coding_transcript_exon_variant,,ENST00000473304,;	1292	45	70	SUCCESS
PALD1	27143	.	GRCh37	10	72324178	72324178	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	31	78	0	ENST00000263563.6:c.2321A>G	p.Tyr774Cys	p.Y774C	ENST00000263563	NM_014431.2	774	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31215.1	2321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTACTTGG	NONE	.	.	Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339	.	.	ENSP00000263563	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000263563	Transcript	.	.	ENSG00000107719	23530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.598)	.	deleterious(0)	.	PALD_HUMAN	PALD1	HGNC	.	.	UPI00001C1EDC	SNV	PALD1,missense_variant,p.Tyr774Cys,ENST00000263563,;	2589	78	114	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123465509	123465509	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1443514559	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	58	1	ENST00000529750.1:c.407T>A	p.Ile136Asn	p.I136N	ENST00000529750	NM_020716.1	136	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS53720.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGATCTGCT	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3,Pfam_domain:PF02893,SMART_domains:SM00568	.	.	ENSP00000436500	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,missense_variant,p.Ile136Asn,ENST00000322282,;GRAMD1B,missense_variant,p.Ile143Asn,ENST00000456860,;GRAMD1B,missense_variant,p.Ile132Asn,ENST00000534764,;GRAMD1B,missense_variant,p.Ile96Asn,ENST00000529432,;GRAMD1B,missense_variant,p.Ile136Asn,ENST00000529750,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;SF3A3P2,downstream_gene_variant,,ENST00000528675,;	734	59	65	SUCCESS
PSMA1	5682	.	GRCh37	11	14539222	14539222	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779290146	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	90	227	0	ENST00000396394.2:c.220A>G	p.Ile74Val	p.I74V	ENST00000396394	NM_002786.3	74	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31431.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAATTGAGA	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF12,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235	.	.	ENSP00000414359	.	5/11	.	.	.	.	.	.	.	.	rs779290146	5/11	PASS	ENST00000418988	Transcript	.	.	ENSG00000129084	9530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	deleterious(0.02)	.	PSA1_HUMAN	PSMA1	HGNC	F5GX11_HUMAN	.	UPI000002B1AC	SNV	PSMA1,missense_variant,p.Ile74Val,ENST00000396393,;PSMA1,missense_variant,p.Ile80Val,ENST00000418988,;PSMA1,missense_variant,p.Ile49Val,ENST00000530457,;PSMA1,missense_variant,p.Ile74Val,ENST00000419365,;PSMA1,missense_variant,p.Ile74Val,ENST00000396394,;PSMA1,downstream_gene_variant,,ENST00000532256,;PSMA1,downstream_gene_variant,,ENST00000533068,;PSMA1,missense_variant,p.Ile74Val,ENST00000555531,;PSMA1,non_coding_transcript_exon_variant,,ENST00000531156,;PSMA1,non_coding_transcript_exon_variant,,ENST00000528307,;PSMA1,non_coding_transcript_exon_variant,,ENST00000533331,;PSMA1,non_coding_transcript_exon_variant,,ENST00000526443,;PSMA1,upstream_gene_variant,,ENST00000527632,;PSMA1,upstream_gene_variant,,ENST00000531023,;PSMA1,upstream_gene_variant,,ENST00000529524,;	566	227	258	SUCCESS
OR52A5	390054	.	GRCh37	11	5153167	5153167	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376219001	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	50	109	0	ENST00000307388.1:c.706G>A	p.Ala236Thr	p.A236T	ENST00000307388	NM_001005160.2	236	Gca/Aca	0	A:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS31373.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGCCTCCT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,PROSITE_profiles:PS50262	.	A:0.0001	ENSP00000303469	.	1/1	.	.	.	.	.	.	.	.	rs376219001	1/1	PASS	ENST00000307388	Transcript	.	.	ENSG00000171944	19580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.654)	.	deleterious(0.04)	.	O52A5_HUMAN	OR52A5	HGNC	.	.	UPI0000046AEF	SNV	OR52A5,missense_variant,p.Ala236Thr,ENST00000307388,;	706	109	116	SUCCESS
HBG2	3048	.	GRCh37	11	5275588	5275588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	45	228	0	ENST00000336906.4:c.249G>T	p.Lys83Asn	p.K83N	ENST00000336906	NM_000184.2	83	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS7755.1	249	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCTTGAG	NONE	.	.	Prints_domain:PR00814,Superfamily_domains:SSF46458,Gene3D:1.10.490.10,Pfam_domain:PF00042,hmmpanther:PTHR11442:SF34,hmmpanther:PTHR11442,PROSITE_profiles:PS01033	.	.	ENSP00000369609	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000380259	Transcript	.	.	ENSG00000196565	4832	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious(0.02)	.	HBG2_HUMAN	HBG2	HGNC	Q9UNL6_HUMAN,Q9UJ01_HUMAN,Q14476_HUMAN,Q14474_HUMAN,Q14402_HUMAN,D9YZU9_HUMAN,A1EGU3_HUMAN	.	UPI00000012DA	SNV	HBG2,missense_variant,p.Lys73Asn,ENST00000380252,;HBG2,missense_variant,p.Lys83Asn,ENST00000380259,;HBG2,missense_variant,p.Lys83Asn,ENST00000336906,;HBG1,upstream_gene_variant,,ENST00000330597,;HBG2,3_prime_UTR_variant,,ENST00000444587,;	1490	228	230	SUCCESS
SMTNL1	219537	.	GRCh37	11	57310839	57310841	+	intron_variant	Intron	DEL	GAG	GAG	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	GAG	GAG	.	.	.	.	.	.	.	.	.	.	.	.	.	184	37	179	0	ENST00000399154.2:c.621+29_621+31del		p.*207*	ENST00000399154		260		0	.	.	.	.	.	-	E/-	protein_coding	YES	.	778-780	INDELOCATOR*|VARSCANI*|PINDEL	.	GATGCAGAGGAGGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR25069	.	.	ENSP00000406485	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000457912	Transcript	.	.	ENSG00000214872	32394	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SMTNL1	HGNC	E9PPJ3_HUMAN,C9J621_HUMAN	.	UPI0000DD8085	deletion	SMTNL1,inframe_deletion,p.Glu243del,ENST00000527972,;SMTNL1,inframe_deletion,p.Glu261del,ENST00000457912,;SMTNL1,intron_variant,,ENST00000399154,;	778-780	179	221	SUCCESS
PHRF1	57661	.	GRCh37	11	597422	597422	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs377428073	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	63	0	ENST00000264555.5:c.746T>G	p.Val249Gly	p.V249G	ENST00000264555	NM_020901.2	249	gTc/gGc	0	A:0.0002	A:0.0008	.	A:0	.	G	V/G	protein_coding	YES	CCDS44507.1	746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGTCTCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	A:0	A:0	ENSP00000410626	A:0	8/18	.	.	.	.	.	.	.	.	rs377428073	8/18	PASS	ENST00000416188	Transcript	.	A:0.0002	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	A:0	deleterious(0)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Val249Gly,ENST00000416188,;PHRF1,missense_variant,p.Val249Gly,ENST00000264555,;PHRF1,missense_variant,p.Val248Gly,ENST00000413872,;PHRF1,missense_variant,p.Val245Gly,ENST00000533464,;PHRF1,missense_variant,p.Val249Gly,ENST00000534320,;PHRF1,upstream_gene_variant,,ENST00000532550,;	839	63	70	SUCCESS
P2RY6	5031	.	GRCh37	11	73008130	73008130	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	19	0	ENST00000349767.2:c.567T>C	p.Tyr189=	p.Y189=	ENST00000349767	NM_176796.2	189	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS8220.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATATGCC	NONE	.	.	Prints_domain:PR01068,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF16,PROSITE_profiles:PS50262	.	.	ENSP00000377215	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000393590	Transcript	.	.	ENSG00000171631	8543	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY6_HUMAN	P2RY6	HGNC	F5GYF3_HUMAN,F5GX90_HUMAN	.	UPI000005041C	SNV	P2RY6,synonymous_variant,p.%3D,ENST00000538328,;P2RY6,synonymous_variant,p.%3D,ENST00000540342,;P2RY6,synonymous_variant,p.%3D,ENST00000349767,;P2RY6,synonymous_variant,p.%3D,ENST00000540124,;P2RY6,synonymous_variant,p.%3D,ENST00000542092,;P2RY6,synonymous_variant,p.%3D,ENST00000393592,;P2RY6,synonymous_variant,p.%3D,ENST00000536225,;P2RY6,synonymous_variant,p.%3D,ENST00000535931,;P2RY6,synonymous_variant,p.%3D,ENST00000393591,;P2RY6,synonymous_variant,p.%3D,ENST00000393590,;P2RY6,downstream_gene_variant,,ENST00000544437,;	866	19	16	SUCCESS
RPS3	6188	.	GRCh37	11	75115747	75115747	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	35	133	0	ENST00000524851.1:c.570G>T	p.Leu190=	p.L190=	ENST00000524851		190	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58161.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGCCCTG	NONE	.	.	Superfamily_domains:SSF54821,Gene3D:2vqeC02,hmmpanther:PTHR11760,hmmpanther:PTHR11760:SF17	.	.	ENSP00000278572	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000278572	Transcript	.	.	ENSG00000149273	10420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RS3_HUMAN	RPS3	HGNC	Q9NQS8_HUMAN,E9PSF4_HUMAN,E9PJN9_HUMAN	.	UPI0001EE4B77	SNV	RPS3,synonymous_variant,p.%3D,ENST00000422465,;RPS3,synonymous_variant,p.%3D,ENST00000278572,;RPS3,synonymous_variant,p.%3D,ENST00000531188,;RPS3,synonymous_variant,p.%3D,ENST00000526608,;RPS3,synonymous_variant,p.%3D,ENST00000525933,;RPS3,synonymous_variant,p.%3D,ENST00000534440,;RPS3,synonymous_variant,p.%3D,ENST00000524851,;RPS3,synonymous_variant,p.%3D,ENST00000527446,;RPS3,downstream_gene_variant,,ENST00000530164,;RPS3,downstream_gene_variant,,ENST00000527273,;RPS3,downstream_gene_variant,,ENST00000528847,;SNORD15B,downstream_gene_variant,,ENST00000384714,;SNORD15A,downstream_gene_variant,,ENST00000384214,;RPS3,non_coding_transcript_exon_variant,,ENST00000529285,;RPS3,downstream_gene_variant,,ENST00000534555,;RPS3,missense_variant,p.Ala118Ser,ENST00000530170,;RPS3,3_prime_UTR_variant,,ENST00000532872,;RPS3,3_prime_UTR_variant,,ENST00000525690,;RPS3,3_prime_UTR_variant,,ENST00000530721,;RPS3,3_prime_UTR_variant,,ENST00000526248,;RPS3,non_coding_transcript_exon_variant,,ENST00000529173,;RPS3,intron_variant,,ENST00000528439,;	636	133	129	SUCCESS
LRRK2	120892	.	GRCh37	12	40631840	40631840	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	49	0	ENST00000298910.7:c.506C>A	p.Ser169Ter	p.S169*	ENST00000298910	NM_198578.3	169	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS31774.1	506	MUTECT|MUSE	.	GCACTCATTTC	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Superfamily_domains:SSF48371	.	.	ENSP00000298910	.	5/51	.	.	.	.	.	.	.	.	.	5/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,stop_gained,p.Ser169Ter,ENST00000343742,;LRRK2,stop_gained,p.Ser98Ter,ENST00000416796,;LRRK2,stop_gained,p.Ser169Ter,ENST00000298910,;	564	49	54	SUCCESS
ZCRB1	85437	.	GRCh37	12	42707501	42707502	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	109	36	81	0	ENST00000266529.3:c.512_513del	p.Ile171SerfsTer8	p.I171Sfs*8	ENST00000266529	NM_033114.3	171	aTA/a	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS8740.1	512-513	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATGCTATGGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23139:SF52,hmmpanther:PTHR23139	.	.	ENSP00000266529	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000266529	Transcript	.	.	ENSG00000139168	29620	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZCRB1_HUMAN	ZCRB1	HGNC	Q05DR1_HUMAN,G3V1V1_HUMAN,F8VXY6_HUMAN	.	UPI00000467ED	deletion	ZCRB1,frameshift_variant,p.Ile130SerfsTer?,ENST00000552235,;ZCRB1,frameshift_variant,p.Ile171SerfsTer8,ENST00000266529,;ZCRB1,frameshift_variant,p.Ile130SerfsTer8,ENST00000552673,;PPHLN1,intron_variant,,ENST00000549190,;	696-697	81	145	SUCCESS
ARID2	196528	.	GRCh37	12	46244346	46244347	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	104	34	90	0	ENST00000334344.6:c.2441_2442del	p.Thr814SerfsTer26	p.T814Sfs*26	ENST00000334344	NM_152641.2	814	ACa/a	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS31783.1	2440-2441	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTCTACAGTTT	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	deletion	ARID2,frameshift_variant,p.Thr814SerfsTer26,ENST00000334344,;ARID2,frameshift_variant,p.Thr424SerfsTer26,ENST00000444670,;ARID2,frameshift_variant,p.Thr665SerfsTer26,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	2612-2613	90	138	SUCCESS
WNT1	7471	.	GRCh37	12	49375114	49375114	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	81	0	ENST00000293549.3:c.804G>T	p.Arg268=	p.R268=	ENST00000293549	NM_005430.3	268	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8776.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCGGGCGGA	NONE	.	.	hmmpanther:PTHR12027:SF80,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01841	.	.	ENSP00000293549	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000293549	Transcript	.	.	ENSG00000125084	12774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT1_HUMAN	WNT1	HGNC	.	.	UPI0000051043	SNV	WNT1,synonymous_variant,p.%3D,ENST00000293549,;	840	81	90	SUCCESS
PRIM1	5557	.	GRCh37	12	57132217	57132217	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	51	0	ENST00000338193.6:c.1144+1G>A		p.X382_splice	ENST00000338193	NM_000946.2	382		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44926.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTACCTCTG	NONE	.	.	.	.	.	ENSP00000350491	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338193	Transcript	.	.	ENSG00000198056	9369	.	.	HIGH	11/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRI1_HUMAN	PRIM1	HGNC	.	.	UPI00001321AF	SNV	PRIM1,splice_donor_variant,,ENST00000338193,;PRIM1,downstream_gene_variant,,ENST00000550770,;PRIM1,downstream_gene_variant,,ENST00000549549,;PRIM1,splice_donor_variant,,ENST00000552590,;	.	51	65	SUCCESS
MGAT4C	25834	.	GRCh37	12	86373973	86373973	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	88	0	ENST00000548651.1:c.531G>A	p.Glu177=	p.E177=	ENST00000548651	NM_013244.3	177	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS9030.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATACTCCTC	NONE	.	.	hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF8,Pfam_domain:PF04666	.	.	ENSP00000474896	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000604798	Transcript	.	.	ENSG00000182050	30871	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT4C_HUMAN	MGAT4C	HGNC	F8VWY2_HUMAN	.	UPI00001B002C	SNV	MGAT4C,synonymous_variant,p.%3D,ENST00000548651,;MGAT4C,synonymous_variant,p.%3D,ENST00000552808,;MGAT4C,synonymous_variant,p.%3D,ENST00000332156,;MGAT4C,synonymous_variant,p.%3D,ENST00000604798,;MGAT4C,synonymous_variant,p.%3D,ENST00000547225,;MGAT4C,synonymous_variant,p.%3D,ENST00000549405,;MGAT4C,synonymous_variant,p.%3D,ENST00000393205,;MGAT4C,intron_variant,,ENST00000552435,;	1736	88	104	SUCCESS
C12orf50	160419	.	GRCh37	12	88420843	88420843	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	21	0	ENST00000298699.2:c.-104C>T		p.*35*	ENST00000298699	NM_152589.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9031.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGAACCC	NONE	.	.	.	.	.	ENSP00000298699	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000298699	Transcript	.	.	ENSG00000165805	26665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL050_HUMAN	C12orf50	HGNC	F8VXH4_HUMAN	.	UPI0000071382	SNV	C12orf50,5_prime_UTR_variant,,ENST00000551163,;C12orf50,5_prime_UTR_variant,,ENST00000550553,;C12orf50,5_prime_UTR_variant,,ENST00000298699,;C12orf50,non_coding_transcript_exon_variant,,ENST00000546547,;C12orf50,non_coding_transcript_exon_variant,,ENST00000551944,;	78	21	24	SUCCESS
PDS5B	23047	.	GRCh37	13	33241913	33241913	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	131	262	0	ENST00000315596.10:c.637C>G	p.Gln213Glu	p.Q213E	ENST00000315596	NM_015032.3	213	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS41878.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGCAAGCA	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Gene3D:1.25.10.10	.	.	ENSP00000313851	.	7/35	.	.	.	.	.	.	.	.	.	7/35	PASS	ENST00000315596	Transcript	.	.	ENSG00000083642	20418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.14)	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,missense_variant,p.Gln213Glu,ENST00000315596,;PDS5B,missense_variant,p.Gln213Glu,ENST00000450460,;PDS5B,non_coding_transcript_exon_variant,,ENST00000498550,;	823	262	380	SUCCESS
SUGT1	10910	.	GRCh37	13	53232539	53232539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	67	0	ENST00000343788.6:c.193G>T	p.Val65Phe	p.V65F	ENST00000343788	NM_001130912.1	65	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS45050.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTGTTGCT	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF281,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000367208	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000343788	Transcript	.	.	ENSG00000165416	16987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.01)	.	SUGT1_HUMAN	SUGT1	HGNC	.	.	UPI00001CDFF4	SNV	SUGT1,missense_variant,p.Val65Phe,ENST00000343788,;SUGT1,missense_variant,p.Val65Phe,ENST00000310528,;SUGT1,missense_variant,p.Val9Phe,ENST00000535397,;SUGT1,non_coding_transcript_exon_variant,,ENST00000483074,;	275	67	58	SUCCESS
AHNAK2	113146	.	GRCh37	14	105411288	105411288	+	synonymous_variant	Silent	SNP	C	C	T	rs199731572	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	42	112	1	ENST00000333244.5:c.10500G>A	p.Ala3500=	p.A3500=	ENST00000333244	NM_138420.2	3500	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45177.1	10500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGCGCAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs199731572	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,synonymous_variant,p.%3D,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	10620	113	142	SUCCESS
FLRT2	23768	.	GRCh37	14	86089510	86089510	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	61	0	ENST00000330753.4:c.1652T>C	p.Val551Ala	p.V551A	ENST00000330753	NM_013231.4	551	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS9877.1	1652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGTGATAT	BUFFER|p.A550T|c.1648G>A|4,BUFFER|p.A550V|c.1649C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.562)	.	tolerated(0.1)	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,missense_variant,p.Val551Ala,ENST00000330753,;FLRT2,missense_variant,p.Val551Ala,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2419	62	76	SUCCESS
PPP4R4	57718	.	GRCh37	14	94693699	94693699	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	51	0	ENST00000304338.3:c.295-3225G>T		p.*99*	ENST00000304338	NM_058237.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9921.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGAGGAG	NONE	.	.	.	.	.	ENSP00000305924	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304338	Transcript	.	.	ENSG00000119698	23788	.	.	MODIFIER	3/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP4R4_HUMAN	PPP4R4	HGNC	G3V431_HUMAN,G3V422_HUMAN	.	UPI000016223B	SNV	PPP4R4,stop_gained,p.Glu47Ter,ENST00000556884,;PPP4R4,3_prime_UTR_variant,,ENST00000328839,;PPP4R4,intron_variant,,ENST00000304338,;PPP4R4,intron_variant,,ENST00000556470,;PPP4R4,intron_variant,,ENST00000553661,;PPP4R4,non_coding_transcript_exon_variant,,ENST00000555690,;	.	51	80	SUCCESS
CASC5	0	.	GRCh37	15	40943693	40943693	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	91	106	0	ENST00000346991.5:c.6315A>G	p.Gln2105=	p.Q2105=	ENST00000346991		2105	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS42023.1	6315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACAAAAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2	.	.	ENSP00000335463	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000346991	Transcript	1	.	ENSG00000137812	24054	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASC5_HUMAN	CASC5	HGNC	.	.	UPI0000E59BD3	SNV	CASC5,synonymous_variant,p.%3D,ENST00000346991,;CASC5,synonymous_variant,p.%3D,ENST00000399668,;CASC5,downstream_gene_variant,,ENST00000532406,;CTD-2339L15.3,downstream_gene_variant,,ENST00000559841,;CASC5,synonymous_variant,p.%3D,ENST00000526913,;CASC5,non_coding_transcript_exon_variant,,ENST00000532347,;CASC5,downstream_gene_variant,,ENST00000528967,;	6705	106	178	SUCCESS
FBN1	2200	.	GRCh37	15	48760684	48760684	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	62	0	ENST00000316623.5:c.4507G>A	p.Val1503Ile	p.V1503I	ENST00000316623	NM_000138.4	1503	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS32232.1	4507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGACACAGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000325527	.	37/66	.	.	.	.	.	.	.	.	.	37/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Val1503Ile,ENST00000316623,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000559133,;	4963	62	70	SUCCESS
MYO5A	4644	.	GRCh37	15	52611468	52611468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	68	0	ENST00000399231.3:c.4948A>T	p.Thr1650Ser	p.T1650S	ENST00000399231	NM_000259.3	1650	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS42037.1	4948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGTTCGCT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,PROSITE_profiles:PS51126	.	.	ENSP00000382177	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000399231	Transcript	1	.	ENSG00000197535	7602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(1)	.	MYO5A_HUMAN	MYO5A	HGNC	Q9UES4_HUMAN	.	UPI0000E445E1	SNV	MYO5A,missense_variant,p.Thr380Ser,ENST00000399229,;MYO5A,missense_variant,p.Thr1675Ser,ENST00000358212,;MYO5A,missense_variant,p.Thr1650Ser,ENST00000399231,;MYO5A,missense_variant,p.Thr1647Ser,ENST00000399233,;MYO5A,missense_variant,p.Thr1623Ser,ENST00000356338,;MYO5A,missense_variant,p.Thr1648Ser,ENST00000553916,;MYO5A,downstream_gene_variant,,ENST00000465290,;	5192	68	96	SUCCESS
HERC1	8925	.	GRCh37	15	63944717	63944717	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	45	111	1	ENST00000443617.2:c.10314T>C	p.Asn3438=	p.N3438=	ENST00000443617	NM_003922.3	3438	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS45277.1	10314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATTACA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000390158	.	52/78	.	.	.	.	.	.	.	.	.	52/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,synonymous_variant,p.%3D,ENST00000443617,;	10402	112	128	SUCCESS
CALML4	91860	.	GRCh37	15	68497725	68497725	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	22	0	ENST00000467889.1:c.-11G>T		p.*4*	ENST00000467889	NM_033429.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10226.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCCGAC	NONE	.	.	.	.	.	ENSP00000419081	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000467889	Transcript	.	.	ENSG00000129007	18445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALL4_HUMAN	CALML4	HGNC	H3BS46_HUMAN	.	UPI0000251E74	SNV	CALML4,5_prime_UTR_variant,,ENST00000395465,;CALML4,5_prime_UTR_variant,,ENST00000448060,;CALML4,5_prime_UTR_variant,,ENST00000540479,;CALML4,5_prime_UTR_variant,,ENST00000467889,;RP11-315D16.2,intron_variant,,ENST00000562767,;CLN6,downstream_gene_variant,,ENST00000538696,;CLN6,downstream_gene_variant,,ENST00000564752,;CLN6,downstream_gene_variant,,ENST00000565471,;CLN6,downstream_gene_variant,,ENST00000566347,;CLN6,downstream_gene_variant,,ENST00000418702,;CLN6,downstream_gene_variant,,ENST00000249806,;CALML4,5_prime_UTR_variant,,ENST00000395463,;CLN6,downstream_gene_variant,,ENST00000563917,;CALML4,upstream_gene_variant,,ENST00000478113,;CLN6,downstream_gene_variant,,ENST00000567060,;	175	22	36	SUCCESS
TUFM	7284	.	GRCh37	16	28857319	28857319	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs777322797	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	64	0	ENST00000313511.3:c.161A>T	p.Tyr54Phe	p.Y54F	ENST00000313511	NM_003321.4	54	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10642.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTAAGTC	NONE	.	.	TIGRFAM_domain:TIGR00485,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF112	.	.	ENSP00000322439	.	2/10	.	.	.	.	.	.	.	.	rs777322797	2/10	PASS	ENST00000313511	Transcript	.	.	ENSG00000178952	12420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(1)	.	EFTU_HUMAN	TUFM	HGNC	.	.	UPI0000049FD5	SNV	TUFM,missense_variant,p.Tyr54Phe,ENST00000313511,;SH2B1,upstream_gene_variant,,ENST00000322610,;SH2B1,upstream_gene_variant,,ENST00000563591,;SH2B1,upstream_gene_variant,,ENST00000567536,;MIR4721,upstream_gene_variant,,ENST00000577590,;TUFM,missense_variant,p.Tyr54Phe,ENST00000565012,;TUFM,upstream_gene_variant,,ENST00000569217,;TUFM,upstream_gene_variant,,ENST00000561644,;	300	64	77	SUCCESS
ITGAM	3684	.	GRCh37	16	31289337	31289337	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs747384775	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	35	73	0	ENST00000287497.8:c.1267del	p.Ala423HisfsTer10	p.A423Hfs*10	ENST00000287497		421	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS54004.1	1263	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTCTGGGGGC	NONE	byFrequency	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000441691	.	12/30	.	.	.	.	.	.	.	.	rs747384775	12/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	deletion	ITGAM,frameshift_variant,p.Ala423HisfsTer10,ENST00000287497,;ITGAM,frameshift_variant,p.Ala423HisfsTer10,ENST00000544665,;ITGAM,intron_variant,,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	1334	73	157	SUCCESS
BRD7	29117	.	GRCh37	16	50388735	50388736	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	152	63	172	0	ENST00000394688.3:c.356dup	p.Pro120AlafsTer43	p.P120Afs*43	ENST00000394688		119	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS54007.1	356-357	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGGCTTCTC	NONE	.	.	Superfamily_domains:SSF47370,Gene3D:1.20.920.10,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	insertion	BRD7,frameshift_variant,p.Pro120AlafsTer43,ENST00000394688,;BRD7,frameshift_variant,p.Pro120AlafsTer43,ENST00000394689,;snoU13,upstream_gene_variant,,ENST00000459559,;BRD7,non_coding_transcript_exon_variant,,ENST00000475877,;BRD7,non_coding_transcript_exon_variant,,ENST00000401491,;BRD7,non_coding_transcript_exon_variant,,ENST00000567826,;	361-362	172	215	SUCCESS
IRX3	79191	.	GRCh37	16	54318461	54318461	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	12	0	ENST00000329734.3:c.1332C>T	p.His444=	p.H444=	ENST00000329734	NM_024336.2	444	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS10750.1	1332	RADIA|MUTECT|MUSE	.	GCCGGGTGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11211:SF14,hmmpanther:PTHR11211	.	.	ENSP00000331608	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000329734	Transcript	.	.	ENSG00000177508	14360	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRX3_HUMAN	IRX3	HGNC	.	.	UPI000019745F	SNV	IRX3,synonymous_variant,p.%3D,ENST00000329734,;IRX3,intron_variant,,ENST00000558054,;IRX3,non_coding_transcript_exon_variant,,ENST00000558180,;	2045	12	13	SUCCESS
PLEKHG4	25894	.	GRCh37	16	67316522	67316522	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	28	55	0	ENST00000360461.5:c.1370C>A	p.Ala457Asp	p.A457D	ENST00000360461	NM_001129727.1	457	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS32466.1	1370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCCGGG	NONE	.	.	hmmpanther:PTHR22826:SF110,hmmpanther:PTHR22826	.	.	ENSP00000353646	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000360461	Transcript	.	.	ENSG00000196155	24501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.28)	.	PKHG4_HUMAN	PLEKHG4	HGNC	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN	.	UPI000013C774	SNV	PLEKHG4,missense_variant,p.Ala457Asp,ENST00000360461,;PLEKHG4,missense_variant,p.Ala457Asp,ENST00000379344,;PLEKHG4,missense_variant,p.Ala457Asp,ENST00000427155,;PLEKHG4,missense_variant,p.Ala376Asp,ENST00000450733,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,3_prime_UTR_variant,,ENST00000393966,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;	3905	55	46	SUCCESS
ZNF469	84627	.	GRCh37	16	88496242	88496242	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	72	0	ENST00000437464.1:c.2364G>A	p.Ala788=	p.A788=	ENST00000437464	NM_001127464.1	788	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45544.1	2364	MUTECT|MUSE	.	CACGCGGGCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,synonymous_variant,p.%3D,ENST00000565624,;ZNF469,synonymous_variant,p.%3D,ENST00000437464,;	2364	72	68	SUCCESS
TANC2	26115	.	GRCh37	17	61497385	61497385	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	40	45	0	ENST00000424789.2:c.4042C>A	p.Leu1348Met	p.L1348M	ENST00000424789	NM_025185.3	1348	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS45754.1	4042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCTGAAC	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000387593	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.02)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Leu1358Met,ENST00000389520,;TANC2,missense_variant,p.Leu1348Met,ENST00000424789,;TANC2,missense_variant,p.Pro1243His,ENST00000583356,;RP11-269G24.3,intron_variant,,ENST00000583552,;TANC2,downstream_gene_variant,,ENST00000579541,;	4046	45	72	SUCCESS
WDR16	0	.	GRCh37	17	9497562	9497562	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	47	0	ENST00000352665.5:c.460G>A	p.Ala154Thr	p.A154T	ENST00000352665	NM_145054.4	154	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11149.2	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGCCGGC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF14,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000339449	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000352665	Transcript	.	.	ENSG00000166596	16053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.15)	.	WDR16_HUMAN	WDR16	HGNC	.	.	UPI00001AECC1	SNV	WDR16,missense_variant,p.Ala164Thr,ENST00000299764,;WDR16,missense_variant,p.Ala154Thr,ENST00000352665,;WDR16,missense_variant,p.Ala86Thr,ENST00000396219,;WDR16,3_prime_UTR_variant,,ENST00000576499,;WDR16,3_prime_UTR_variant,,ENST00000572333,;WDR16,3_prime_UTR_variant,,ENST00000575247,;WDR16,3_prime_UTR_variant,,ENST00000576630,;WDR16,non_coding_transcript_exon_variant,,ENST00000576320,;WDR16,intron_variant,,ENST00000574937,;RPL19P18,upstream_gene_variant,,ENST00000466869,;	529	47	66	SUCCESS
LAMA3	3909	.	GRCh37	18	21422363	21422363	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	89	180	0	ENST00000313654.9:c.3341A>T	p.Gln1114Leu	p.Q1114L	ENST00000313654	NM_198129.1	1114	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS42419.1	3341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCAAGTGA	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	28/75	.	.	.	.	.	.	.	.	.	28/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Gln1114Leu,ENST00000313654,;LAMA3,missense_variant,p.Gln1114Leu,ENST00000399516,;	3582	180	250	SUCCESS
HMHA1	0	.	GRCh37	19	1068487	1068487	+	synonymous_variant	Silent	SNP	C	C	T	rs748165428	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	111	0	ENST00000313093.2:c.165C>T	p.Gly55=	p.G55=	ENST00000313093	NM_012292.3	55	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS58637.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCGTCAA	NONE	.	.	.	.	.	ENSP00000439601	.	2/23	.	.	.	.	.	.	.	.	rs748165428	2/23	PASS	ENST00000539243	Transcript	.	.	ENSG00000180448	17102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMHA1_HUMAN	HMHA1	HGNC	O78181_HUMAN	.	UPI0001AE63E1	SNV	HMHA1,synonymous_variant,p.%3D,ENST00000313093,;HMHA1,synonymous_variant,p.%3D,ENST00000590214,;HMHA1,synonymous_variant,p.%3D,ENST00000539243,;HMHA1,synonymous_variant,p.%3D,ENST00000587186,;HMHA1,synonymous_variant,p.%3D,ENST00000586866,;HMHA1,intron_variant,,ENST00000536472,;ABCA7,downstream_gene_variant,,ENST00000263094,;HMHA1,upstream_gene_variant,,ENST00000543365,;ABCA7,downstream_gene_variant,,ENST00000433129,;HMHA1,upstream_gene_variant,,ENST00000592335,;ABCA7,downstream_gene_variant,,ENST00000525073,;ABCA7,downstream_gene_variant,,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000524383,;HMHA1,intron_variant,,ENST00000587602,;HMHA1,intron_variant,,ENST00000591293,;ABCA7,downstream_gene_variant,,ENST00000525939,;ABCA7,downstream_gene_variant,,ENST00000531478,;	316	111	110	SUCCESS
RYR1	6261	.	GRCh37	19	38976259	38976259	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781159223	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	24	0	ENST00000359596.3:c.4964G>T	p.Arg1655Leu	p.R1655L	ENST00000359596		1655	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS33011.1	4964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCCTGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	34/106	.	.	.	.	.	.	.	.	rs781159223,COSM3692721	34/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.055)	.	.	0,1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Arg1655Leu,ENST00000355481,;RYR1,missense_variant,p.Arg1655Leu,ENST00000360985,;RYR1,missense_variant,p.Arg1655Leu,ENST00000359596,;	4964	24	33	SUCCESS
DYRK1B	9149	.	GRCh37	19	40319067	40319067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	74	0	ENST00000323039.5:c.677T>C	p.Leu226Pro	p.L226P	ENST00000323039	NM_004714.1	226	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS12543.1	677	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGAGCAGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF27,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000469863	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000593685	Transcript	.	.	ENSG00000105204	3092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.96)	.	tolerated(0.11)	.	DYR1B_HUMAN	DYRK1B	HGNC	M0R131_HUMAN	.	UPI0000001059	SNV	DYRK1B,missense_variant,p.Leu226Pro,ENST00000597639,;DYRK1B,missense_variant,p.Leu226Pro,ENST00000593685,;DYRK1B,missense_variant,p.Leu226Pro,ENST00000348817,;DYRK1B,missense_variant,p.Leu226Pro,ENST00000430012,;DYRK1B,missense_variant,p.Leu226Pro,ENST00000323039,;DYRK1B,downstream_gene_variant,,ENST00000601972,;DYRK1B,downstream_gene_variant,,ENST00000600611,;DYRK1B,non_coding_transcript_exon_variant,,ENST00000601696,;	1146	74	92	SUCCESS
GPR4	2828	.	GRCh37	19	46094941	46094941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	36	70	0	ENST00000323040.4:c.184G>A	p.Ala62Thr	p.A62T	ENST00000323040	NM_005282.2	62	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12669.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGCGATGC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF42,hmmpanther:PTHR24232,PROSITE_profiles:PS50262	.	.	ENSP00000319744	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000323040	Transcript	.	.	ENSG00000177464	4497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.711)	.	deleterious(0)	.	GPR4_HUMAN	GPR4	HGNC	.	.	UPI0000050428	SNV	GPR4,missense_variant,p.Ala62Thr,ENST00000323040,;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	1129	70	87	SUCCESS
FPR3	2359	.	GRCh37	19	52327369	52327369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779342164	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	102	0	ENST00000339223.4:c.368G>A	p.Arg123His	p.R123H	ENST00000339223	NM_002030.3	123	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12841.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGCTGTA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_patterns:PS00237,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,PROSITE_profiles:PS50262	.	.	ENSP00000341821	.	2/2	.	.	.	.	.	.	.	.	rs779342164	2/2	PASS	ENST00000339223	Transcript	.	.	ENSG00000187474	3828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	deleterious(0.03)	.	FPR3_HUMAN	FPR3	HGNC	Q6L5J4_HUMAN	.	UPI000011DFC1	SNV	FPR3,missense_variant,p.Arg123His,ENST00000339223,;FPR3,missense_variant,p.Arg123His,ENST00000595991,;	547	102	94	SUCCESS
PRMT6	55170	.	GRCh37	1	107599340	107599340	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	48	138	0	ENST00000370078.1:c.3G>A	p.Met1?	p.M1?	ENST00000370078		1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS41360.2	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGTCGCA	NONE	.	.	hmmpanther:PTHR11006:SF50,hmmpanther:PTHR11006	.	.	ENSP00000359095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370078	Transcript	.	.	ENSG00000198890	18241	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious_low_confidence(0)	.	ANM6_HUMAN	PRMT6	HGNC	.	.	UPI000004B63D	SNV	PRMT6,start_lost,p.Met1?,ENST00000370078,;PRMT6,5_prime_UTR_variant,,ENST00000361318,;	40	138	147	SUCCESS
CSDE1	7812	.	GRCh37	1	115273150	115273150	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	50	135	1	ENST00000438362.2:c.1308A>G	p.Glu436=	p.E436=	ENST00000438362	NM_001242891.1	436	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS55626.1	1308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACTTCATC	NONE	.	.	Superfamily_domains:SSF50249,SMART_domains:SM00357,Pfam_domain:PF00313,Gene3D:2.40.50.140,hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	.	.	ENSP00000407724	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000438362	Transcript	.	.	ENSG00000009307	29905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSDE1	HGNC	Q9UG93_HUMAN,G5E9Q2_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN	.	UPI0000D99B0F	SNV	CSDE1,synonymous_variant,p.%3D,ENST00000369530,;CSDE1,synonymous_variant,p.%3D,ENST00000261443,;CSDE1,synonymous_variant,p.%3D,ENST00000358528,;CSDE1,synonymous_variant,p.%3D,ENST00000339438,;CSDE1,synonymous_variant,p.%3D,ENST00000530886,;CSDE1,synonymous_variant,p.%3D,ENST00000534699,;CSDE1,synonymous_variant,p.%3D,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000529046,;Y_RNA,downstream_gene_variant,,ENST00000365030,;CSDE1,upstream_gene_variant,,ENST00000483030,;	1687	137	174	SUCCESS
C1orf158	93190	.	GRCh37	1	12820816	12820816	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140110943	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	7	51	0	ENST00000288048.5:c.517G>A	p.Ala173Thr	p.A173T	ENST00000288048	NM_152290.2	173	Gct/Act	0	A:0.0005	.	.	.	.	A	A/T	protein_coding	YES	CCDS147.1	517	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCGCTATG	NONE	byCluster	.	hmmpanther:PTHR31180	.	A:0	ENSP00000288048	.	4/4	.	.	.	.	.	.	.	.	rs140110943	4/4	PASS	ENST00000288048	Transcript	.	.	ENSG00000157330	28567	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.07)	.	CA158_HUMAN	C1orf158	HGNC	.	.	UPI000013DEE6	SNV	C1orf158,missense_variant,p.Ala135Thr,ENST00000376210,;C1orf158,missense_variant,p.Ala173Thr,ENST00000288048,;	733	51	69	SUCCESS
FLG	2312	.	GRCh37	1	152279038	152279038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	530	47	322	0	ENST00000368799.1:c.8324G>T	p.Arg2775Met	p.R2775M	ENST00000368799	NM_002016.1	2775	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS30860.1	8324	MUTECT|MUSE	.	AGTGCCTGGAG	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.546)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Arg2775Met,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8360	323	577	SUCCESS
KPRP	448834	.	GRCh37	1	152732150	152732150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	32	82	0	ENST00000606109.1:c.86C>A	p.Pro29His	p.P29H	ENST00000606109		29	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS30862.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCCCTTTG	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious_low_confidence(0.02)	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Pro29His,ENST00000368773,;KPRP,missense_variant,p.Pro29His,ENST00000606109,;	144	82	132	SUCCESS
ATP8B2	57198	.	GRCh37	1	154321379	154321379	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	35	119	0	ENST00000368489.3:c.3457G>C	p.Gly1153Arg	p.G1153R	ENST00000368489	NM_020452.3	1153	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS1066.1	3457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTGGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092	.	.	ENSP00000357475	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000368489	Transcript	.	.	ENSG00000143515	13534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(1)	.	AT8B2_HUMAN	ATP8B2	HGNC	Q6P3T1_HUMAN	.	UPI00001B92AB	SNV	ATP8B2,missense_variant,p.Gly1153Arg,ENST00000368489,;ATP8B2,non_coding_transcript_exon_variant,,ENST00000505882,;	3457	119	163	SUCCESS
CCT3	7203	.	GRCh37	1	156290762	156290762	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	39	65	0	ENST00000295688.3:c.477T>C	p.Ser159=	p.S159=	ENST00000295688	NM_005998.4	159	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1140.2	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATAGAGCT	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Gene3D:3.30.260.10,Pfam_domain:PF00118,Superfamily_domains:SSF54849	.	.	ENSP00000295688	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,synonymous_variant,p.%3D,ENST00000446905,;CCT3,synonymous_variant,p.%3D,ENST00000533194,;CCT3,synonymous_variant,p.%3D,ENST00000496684,;CCT3,synonymous_variant,p.%3D,ENST00000413555,;CCT3,synonymous_variant,p.%3D,ENST00000368261,;CCT3,synonymous_variant,p.%3D,ENST00000368259,;CCT3,synonymous_variant,p.%3D,ENST00000472765,;CCT3,synonymous_variant,p.%3D,ENST00000478640,;CCT3,synonymous_variant,p.%3D,ENST00000295688,;CCT3,downstream_gene_variant,,ENST00000415548,;CCT3,non_coding_transcript_exon_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;AL589685.1,upstream_gene_variant,,ENST00000416812,;	758	65	121	SUCCESS
CADM3	57863	.	GRCh37	1	159166162	159166162	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	92	0	ENST00000368125.4:c.700A>C	p.Thr234Pro	p.T234P	ENST00000368125	NM_001127173.1	234	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS1182.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAACTGCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277:SF57,hmmpanther:PTHR23277,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000357106	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000368124	Transcript	.	.	ENSG00000162706	17601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.07)	.	CADM3_HUMAN	CADM3	HGNC	.	.	UPI000006E8A2	SNV	CADM3,missense_variant,p.Thr268Pro,ENST00000368124,;CADM3,missense_variant,p.Thr234Pro,ENST00000368125,;CADM3,missense_variant,p.Thr188Pro,ENST00000416746,;CTA-134P22.2,non_coding_transcript_exon_variant,,ENST00000415675,;CTA-134P22.2,downstream_gene_variant,,ENST00000609696,;CADM3,upstream_gene_variant,,ENST00000497636,;	959	92	134	SUCCESS
COPA	1314	.	GRCh37	1	160313176	160313176	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs200377959	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	52	0	ENST00000241704.7:c.-216T>G		p.*72*	ENST00000241704	NM_004371.3			0	C:0.0002	.	.	.	.	C	.	protein_coding	YES	CCDS1203.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAGAGAG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000294785	.	1/17	.	.	.	.	.	.	.	.	rs200377959	1/17	PASS	ENST00000294785	Transcript	.	.	ENSG00000162736	17091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NICA_HUMAN	NCSTN	HGNC	E7ENA9_HUMAN	.	UPI0000042050	SNV	NCSTN,5_prime_UTR_variant,,ENST00000294785,;NCSTN,5_prime_UTR_variant,,ENST00000437169,;NCSTN,5_prime_UTR_variant,,ENST00000535857,;NCSTN,5_prime_UTR_variant,,ENST00000368063,;NCSTN,5_prime_UTR_variant,,ENST00000421914,;COPA,5_prime_UTR_variant,,ENST00000241704,;COPA,upstream_gene_variant,,ENST00000368069,;NCSTN,upstream_gene_variant,,ENST00000392212,;NCSTN,upstream_gene_variant,,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000491332,;NCSTN,upstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000465223,;COPA,upstream_gene_variant,,ENST00000545266,;COPA,upstream_gene_variant,,ENST00000541366,;	115	52	70	SUCCESS
SUCO	51430	.	GRCh37	1	172547511	172547511	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	6	55	0	ENST00000263688.3:c.1414C>T	p.Leu472=	p.L472=	ENST00000263688	NM_014283.3	472	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1303.1	1414	MUTECT|MUSE	.	AGGAACTATTT	NONE	.	.	hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,synonymous_variant,p.%3D,ENST00000610051,;SUCO,synonymous_variant,p.%3D,ENST00000608151,;SUCO,synonymous_variant,p.%3D,ENST00000367723,;SUCO,synonymous_variant,p.%3D,ENST00000263688,;	1633	55	112	SUCCESS
TNN	63923	.	GRCh37	1	175046567	175046567	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757073878	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	36	75	0	ENST00000239462.4:c.13G>A	p.Glu5Lys	p.E5K	ENST00000239462	NM_022093.1	5	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS30943.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAGATG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167	.	.	ENSP00000239462	.	2/19	.	.	.	.	.	.	.	.	rs757073878	2/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.25)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Glu5Lys,ENST00000239462,;	126	76	129	SUCCESS
LAMC2	3918	.	GRCh37	1	183201974	183201974	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	59	0	ENST00000264144.4:c.2202A>G	p.Glu734=	p.E734=	ENST00000264144	NM_005562.2	734	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1352.1	2202	RADIA|MUTECT|MUSE	.	AGTGAAGCTTC	NONE	.	.	hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	.	.	ENSP00000264144	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,synonymous_variant,p.%3D,ENST00000264144,;LAMC2,synonymous_variant,p.%3D,ENST00000493293,;	2267	59	95	SUCCESS
HMCN1	83872	.	GRCh37	1	185704070	185704070	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	60	122	0	ENST00000271588.4:c.159T>A	p.Tyr53Ter	p.Y53*	ENST00000271588	NM_031935.2	53	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS30956.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTATGATGA	NONE	.	.	hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Pfam_domain:PF13519,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000271588	.	1/107	.	.	.	.	.	.	.	.	.	1/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,stop_gained,p.Tyr53Ter,ENST00000367492,;HMCN1,stop_gained,p.Tyr53Ter,ENST00000271588,;	388	122	227	SUCCESS
HMCN1	83872	.	GRCh37	1	186082011	186082011	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	89	0	ENST00000271588.4:c.11057A>G	p.Asp3686Gly	p.D3686G	ENST00000271588	NM_031935.2	3686	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS30956.1	11057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGATACAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	72/107	.	.	.	.	.	.	.	.	.	72/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.644)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Asp3686Gly,ENST00000367492,;HMCN1,missense_variant,p.Asp3686Gly,ENST00000271588,;	11286	89	119	SUCCESS
EPHX1	2052	.	GRCh37	1	226033008	226033008	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs774101356	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	37	0	ENST00000272167.5:c.1328A>C	p.Gln443Pro	p.Q443P	ENST00000272167	NM_001136018.2	443	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1547.1	1328	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCAGGACA	NONE	.	.	hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF10,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF001112,Superfamily_domains:SSF53474,Prints_domain:PR00412	.	.	ENSP00000355802	.	9/9	.	.	.	.	.	.	.	.	rs774101356	9/9	PASS	ENST00000366837	Transcript	.	.	ENSG00000143819	3401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.418)	.	deleterious(0.04)	.	HYEP_HUMAN	EPHX1	HGNC	R4SBI6_HUMAN,B1AQP9_HUMAN,B1AQP8_HUMAN	.	UPI000012CFF2	SNV	EPHX1,missense_variant,p.Gln443Pro,ENST00000366837,;EPHX1,missense_variant,p.Gln443Pro,ENST00000272167,;TMEM63A,downstream_gene_variant,,ENST00000366835,;RP11-285F7.2,intron_variant,,ENST00000424332,;TMEM63A,downstream_gene_variant,,ENST00000496025,;TMEM63A,downstream_gene_variant,,ENST00000482753,;	1524	37	57	SUCCESS
OBSCN	84033	.	GRCh37	1	228525730	228525730	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	57	0	ENST00000422127.1:c.16886T>A	p.Val5629Glu	p.V5629E	ENST00000422127	NM_001098623.2	5629	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS59204.1	19757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGTGGAGG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	.	.	ENSP00000455507	.	78/116	.	.	.	.	.	.	.	.	.	78/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Val3263Glu,ENST00000366707,;OBSCN,missense_variant,p.Val2748Glu,ENST00000366709,;OBSCN,missense_variant,p.Val5629Glu,ENST00000284548,;OBSCN,missense_variant,p.Val245Glu,ENST00000441106,;OBSCN,missense_variant,p.Val5629Glu,ENST00000422127,;OBSCN,missense_variant,p.Val6586Glu,ENST00000570156,;	19831	57	81	SUCCESS
FMN2	56776	.	GRCh37	1	240601508	240601508	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	48	0	ENST00000319653.9:c.5058G>T	p.Glu1686Asp	p.E1686D	ENST00000319653	NM_020066.4	1686	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS31069.2	5058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGAGGTA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000318884	.	16/18	.	.	.	.	.	.	.	.	COSM1502028	16/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.766)	.	.	1	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Glu282Asp,ENST00000545751,;FMN2,missense_variant,p.Glu1686Asp,ENST00000319653,;	5288	48	76	SUCCESS
NSUN4	387338	.	GRCh37	1	46827352	46827352	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs777733888	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	113	0	ENST00000474844.1:c.989A>G	p.Asn330Ser	p.N330S	ENST00000474844	NM_199044.3	330	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS534.1	989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAATCAAT	NONE	.	.	PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF3,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000419740	.	6/6	.	.	.	.	.	.	.	.	rs777733888	6/6	PASS	ENST00000474844	Transcript	.	.	ENSG00000117481	31802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.48)	.	NSUN4_HUMAN	NSUN4	HGNC	.	.	UPI000013EBC5	SNV	NSUN4,missense_variant,p.Asn281Ser,ENST00000536062,;NSUN4,missense_variant,p.Asn330Ser,ENST00000474844,;NSUN4,missense_variant,p.Asn281Ser,ENST00000537428,;NSUN4,non_coding_transcript_exon_variant,,ENST00000495427,;NSUN4,non_coding_transcript_exon_variant,,ENST00000471871,;NSUN4,non_coding_transcript_exon_variant,,ENST00000498008,;NSUN4,downstream_gene_variant,,ENST00000486270,;NSUN4,3_prime_UTR_variant,,ENST00000307089,;	1639	113	95	SUCCESS
MRPL37	51253	.	GRCh37	1	54666136	54666136	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	47	117	0	ENST00000360840.5:c.220A>G	p.Ile74Val	p.I74V	ENST00000360840	NM_016491.3	74	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS589.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGATCTTT	NONE	.	.	hmmpanther:PTHR15889,hmmpanther:PTHR15889:SF1	.	.	ENSP00000354086	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000360840	Transcript	.	.	ENSG00000116221	14034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	RM37_HUMAN	MRPL37	HGNC	.	.	UPI000006CF76	SNV	MRPL37,missense_variant,p.Ile74Val,ENST00000360840,;MRPL37,missense_variant,p.Ile74Val,ENST00000605337,;MRPL37,synonymous_variant,p.%3D,ENST00000336230,;CYB5RL,upstream_gene_variant,,ENST00000534324,;CYB5RL,upstream_gene_variant,,ENST00000537208,;CYB5RL,upstream_gene_variant,,ENST00000542737,;CYB5RL,upstream_gene_variant,,ENST00000419823,;CYB5RL,upstream_gene_variant,,ENST00000287899,;CYB5RL,upstream_gene_variant,,ENST00000401046,;CYB5RL,upstream_gene_variant,,ENST00000497820,;MRPL37,intron_variant,,ENST00000487096,;MRPL37,intron_variant,,ENST00000490670,;RP11-446E24.4,upstream_gene_variant,,ENST00000311841,;CYB5RL,upstream_gene_variant,,ENST00000421415,;CYB5RL,upstream_gene_variant,,ENST00000528287,;CYB5RL,upstream_gene_variant,,ENST00000420054,;CYB5RL,upstream_gene_variant,,ENST00000490863,;	297	117	152	SUCCESS
SLX4IP	128710	.	GRCh37	20	10602024	10602024	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	79	77	0	ENST00000334534.5:c.468T>C	p.Pro156=	p.P156=	ENST00000334534	NM_001009608.1	156	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS33439.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCCCAG	NONE	.	.	.	.	.	ENSP00000335557	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000334534	Transcript	.	.	ENSG00000149346	16225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLX4I_HUMAN	SLX4IP	HGNC	.	.	UPI00001D8318	SNV	SLX4IP,synonymous_variant,p.%3D,ENST00000334534,;SLX4IP,intron_variant,,ENST00000488816,;	648	77	162	SUCCESS
PDYN	5173	.	GRCh37	20	1961381	1961381	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	39	76	0	ENST00000217305.2:c.353A>G	p.Lys118Arg	p.K118R	ENST00000217305	NM_024411.4	118	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13023.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTTTGTT	NONE	.	.	hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4	.	.	ENSP00000217305	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000217305	Transcript	1	.	ENSG00000101327	8820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.79)	.	PDYN_HUMAN	PDYN	HGNC	Q2YEM6_HUMAN,Q2YEL0_HUMAN,B4DIB7_HUMAN	.	UPI000012FE6A	SNV	PDYN,missense_variant,p.Lys118Arg,ENST00000540134,;PDYN,missense_variant,p.Lys118Arg,ENST00000539905,;PDYN,missense_variant,p.Lys118Arg,ENST00000217305,;RP4-684O24.5,intron_variant,,ENST00000446562,;	579	76	141	SUCCESS
NANP	140838	.	GRCh37	20	25596729	25596729	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	22	61	0	ENST00000304788.3:c.579C>G	p.Thr193=	p.T193=	ENST00000304788	NM_152667.2	193	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS13173.1	579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCGGTTTC	NONE	.	.	hmmpanther:PTHR12725:SF4,hmmpanther:PTHR12725,Pfam_domain:PF13419,TIGRFAM_domain:TIGR02253,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01549,Superfamily_domains:SSF56784	.	.	ENSP00000302441	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304788	Transcript	.	.	ENSG00000170191	16140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANP_HUMAN	NANP	HGNC	.	.	UPI0000070FB9	SNV	NANP,synonymous_variant,p.%3D,ENST00000304788,;RNU6ATAC17P,downstream_gene_variant,,ENST00000516074,;	806	61	114	SUCCESS
WFDC3	140686	.	GRCh37	20	44417610	44417610	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	52	0	ENST00000243938.4:c.171C>T	p.Cys57=	p.C57=	ENST00000243938	NM_080614.1	57	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS33478.1	171	RADIA|MUTECT|MUSE	.	GTGGTGCAGCA	BUFFER|p.K55E|c.163A>G|3	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256	.	.	ENSP00000243938	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,synonymous_variant,p.%3D,ENST00000243938,;WFDC3,synonymous_variant,p.%3D,ENST00000372632,;WFDC3,synonymous_variant,p.%3D,ENST00000337205,;WFDC3,intron_variant,,ENST00000372630,;DNTTIP1,upstream_gene_variant,,ENST00000372622,;DNTTIP1,upstream_gene_variant,,ENST00000415790,;DNTTIP1,upstream_gene_variant,,ENST00000456939,;DNTTIP1,upstream_gene_variant,,ENST00000449078,;DNTTIP1,upstream_gene_variant,,ENST00000435014,;WFDC3,non_coding_transcript_exon_variant,,ENST00000493693,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000467679,;WFDC3,non_coding_transcript_exon_variant,,ENST00000490877,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,intron_variant,,ENST00000462017,;WFDC3,intron_variant,,ENST00000471401,;WFDC3,non_coding_transcript_exon_variant,,ENST00000465935,;	255	52	84	SUCCESS
RTEL1-TNFRSF6B	100533107	.	GRCh37	20	62316913	62316928	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Del	DEL	GTTCCCCAGCAGGGCT	GTTCCCCAGCAGGGCT	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	GTTCCCCAGCAGGGCT	GTTCCCCAGCAGGGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	56	0	ENST00000482936.1:c.1230_1245del	p.Ser411GlyfsTer38	p.S411Gfs*38	ENST00000482936		410	gGTTCCCCAGCAGGGCTg/gg	0	.	.	.	.	.	-	GSPAGL/X	protein_coding	YES	CCDS13530.3	1301-1316	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCTGGTTCCCCAGCAGGGCTGGGGG	NONE	.	.	hmmpanther:PTHR11472:SF4,hmmpanther:PTHR11472	.	.	ENSP00000424307	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000508582	Transcript	1	.	ENSG00000258366	15888	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RTEL1_HUMAN	RTEL1	HGNC	.	.	UPI00019B2219	deletion	RTEL1,frameshift_variant,p.Ser411GlyfsTer38,ENST00000370018,;RTEL1,frameshift_variant,p.Ser411GlyfsTer38,ENST00000360203,;RTEL1,frameshift_variant,p.Ser435GlyfsTer38,ENST00000508582,;RTEL1,frameshift_variant,p.Ser411GlyfsTer38,ENST00000318100,;RTEL1,upstream_gene_variant,,ENST00000425905,;RTEL1,upstream_gene_variant,,ENST00000370003,;RTEL1-TNFRSF6B,frameshift_variant,p.Ser411GlyfsTer38,ENST00000482936,;RTEL1-TNFRSF6B,frameshift_variant,p.Ser439GlyfsTer38,ENST00000492259,;RTEL1-TNFRSF6B,upstream_gene_variant,,ENST00000480273,;RTEL1,upstream_gene_variant,,ENST00000496816,;RTEL1-TNFRSF6B,upstream_gene_variant,,ENST00000496281,;	1647-1662	56	96	SUCCESS
CRYAA	1409	.	GRCh37	21	44589306	44589306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	40	0	ENST00000291554.2:c.97G>A	p.Glu33Lys	p.E33K	ENST00000291554	NM_000394.2	33	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13695.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGAGTAT	NONE	.	.	hmmpanther:PTHR11527:SF36,hmmpanther:PTHR11527,Pfam_domain:PF00525,PIRSF_domain:PIRSF036514	.	.	ENSP00000291554	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000291554	Transcript	.	.	ENSG00000160202	2388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.05)	.	CRYAA_HUMAN	CRYAA	HGNC	Q71V83_HUMAN	.	UPI0000128380	SNV	CRYAA,missense_variant,p.Glu33Lys,ENST00000291554,;CRYAA,upstream_gene_variant,,ENST00000398132,;CRYAA,upstream_gene_variant,,ENST00000398133,;CRYAA,non_coding_transcript_exon_variant,,ENST00000482775,;CRYAA,upstream_gene_variant,,ENST00000468016,;	189	40	54	SUCCESS
MYO18B	84700	.	GRCh37	22	26164976	26164976	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	43	128	0	ENST00000536101.1:c.1093T>C	p.Leu365=	p.L365=	ENST00000536101		365	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS54507.1	1093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGTTGGGG	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	4/44	.	.	.	.	.	.	.	.	.	4/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,synonymous_variant,p.%3D,ENST00000539302,;MYO18B,upstream_gene_variant,,ENST00000418374,;	1343	128	153	SUCCESS
DPP10	57628	.	GRCh37	2	116525977	116525977	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	56	0	ENST00000410059.1:c.1218C>T	p.Ile406=	p.I406=	ENST00000410059	NM_001178037.1	406	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS54388.1	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCCAGGT	NONE	.	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	.	ENSP00000376855	.	13/26	.	.	.	.	.	.	.	.	COSM3565589,COSM3565588	13/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,synonymous_variant,p.%3D,ENST00000393147,;DPP10,synonymous_variant,p.%3D,ENST00000409163,;DPP10,synonymous_variant,p.%3D,ENST00000310323,;DPP10,synonymous_variant,p.%3D,ENST00000410059,;	1585	56	76	SUCCESS
MAP3K2	10746	.	GRCh37	2	128096589	128096589	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754972563	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	83	224	0	ENST00000344908.5:c.42G>T	p.Leu14Phe	p.L14F	ENST00000344908	NM_006609.4	14	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS46404.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCAAATC	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF37	.	.	ENSP00000387246	.	3/17	.	.	.	.	.	.	.	.	rs754972563	3/17	PASS	ENST00000409947	Transcript	.	.	ENSG00000169967	6854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	M3K2_HUMAN	MAP3K2	HGNC	Q96K88_HUMAN,F8W6K3_HUMAN	.	UPI0000208C78	SNV	MAP3K2,missense_variant,p.Leu14Phe,ENST00000409947,;MAP3K2,missense_variant,p.Leu14Phe,ENST00000409179,;MAP3K2,missense_variant,p.Leu14Phe,ENST00000344908,;	325	224	278	SUCCESS
TANC1	85461	.	GRCh37	2	160050974	160050974	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	58	0	ENST00000263635.6:c.2949G>A	p.Leu983=	p.L983=	ENST00000263635	NM_033394.2	983	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42766.1	2949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGGTGTG	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24166:SF23,hmmpanther:PTHR24166,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000263635	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000263635	Transcript	.	.	ENSG00000115183	29364	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TANC1_HUMAN	TANC1	HGNC	.	.	UPI0000421D80	SNV	TANC1,synonymous_variant,p.%3D,ENST00000263635,;TANC1,synonymous_variant,p.%3D,ENST00000454300,;TANC1,upstream_gene_variant,,ENST00000470074,;	3186	58	86	SUCCESS
PXDN	7837	.	GRCh37	2	1639201	1639201	+	synonymous_variant	Silent	SNP	T	T	C	rs767295849	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	69	1	ENST00000252804.4:c.4299A>G	p.Ala1433=	p.A1433=	ENST00000252804	NM_012293.1	1433	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46221.1	4299	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCATGCATC	NONE	byFrequency	.	PROSITE_profiles:PS50184,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000252804	.	22/23	.	.	.	.	.	.	.	.	rs767295849	22/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,synonymous_variant,p.%3D,ENST00000252804,;PXDN,3_prime_UTR_variant,,ENST00000453308,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,non_coding_transcript_exon_variant,,ENST00000493654,;	4350	70	95	SUCCESS
KIAA1715	0	.	GRCh37	2	176802102	176802102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	107	0	ENST00000272748.4:c.1024G>T	p.Val342Leu	p.V342L	ENST00000272748	NM_030650.1	342	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS33332.1	1024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCACACTTC	NONE	.	.	hmmpanther:PTHR22166,Low_complexity_(Seg):seg	.	.	ENSP00000272748	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000272748	Transcript	.	.	ENSG00000144320	21610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	LNP_HUMAN	KIAA1715	HGNC	C9JM95_HUMAN	.	UPI00001C1DB7	SNV	KIAA1715,missense_variant,p.Val373Leu,ENST00000544803,;KIAA1715,missense_variant,p.Val342Leu,ENST00000272748,;KIAA1715,missense_variant,p.Val219Leu,ENST00000409660,;KIAA1715,missense_variant,p.Val267Leu,ENST00000535310,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000475515,;KIAA1715,3_prime_UTR_variant,,ENST00000431754,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000479012,;KIAA1715,downstream_gene_variant,,ENST00000480788,;KIAA1715,downstream_gene_variant,,ENST00000489827,;	1272	107	122	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098966	178098966	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	38	0	ENST00000397062.3:c.79G>T	p.Asp27Tyr	p.D27Y	ENST00000397062	NM_006164.4	27	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42782.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATCTTGCC	CODON|p.D27G|c.80A>G|3,BUFFER|p.L30R|c.89T>G|7,BUFFER|p.L30F|c.88C>T|6,BUFFER|p.D29G|c.86A>G|11,BUFFER|p.D29H|c.85G>C|12,BUFFER|p.D29N|c.85G>A|3,BUFFER|p.D29Y|c.85G>T|4,BUFFER|p.W24C|c.72G>C|5	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132966,COSM717623	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Asp11Tyr,ENST00000449627,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000423513,;NFE2L2,missense_variant,p.Asp27Tyr,ENST00000397062,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000446151,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000588123,;NFE2L2,missense_variant,p.Asp26Tyr,ENST00000586532,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000421929,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000464747,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000448782,;NFE2L2,missense_variant,p.Asp11Tyr,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	634	38	37	SUCCESS
SF3B1	23451	.	GRCh37	2	198260907	198260907	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	90	219	0	ENST00000335508.6:c.3412G>C	p.Val1138Leu	p.V1138L	ENST00000335508	NM_012433.2	1138	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS33356.1	3412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACTCTGT	NONE	.	.	hmmpanther:PTHR12097,Gene3D:1.25.10.10	.	.	ENSP00000335321	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	deleterious(0.05)	.	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Val154Leu,ENST00000424674,;SF3B1,missense_variant,p.Val1138Leu,ENST00000335508,;SF3B1,downstream_gene_variant,,ENST00000496458,;SF3B1,upstream_gene_variant,,ENST00000479532,;	3504	219	247	SUCCESS
SUMO1	7341	.	GRCh37	2	203103285	203103285	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	52	0	ENST00000392245.1:c.-111C>T		p.*37*	ENST00000392245	NM_001005781.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2352.1	.	MUTECT|MUSE	.	CCGCGGCTGCA	NONE	.	.	.	.	.	ENSP00000376077	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000392246	Transcript	.	.	ENSG00000116030	12502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUMO1_HUMAN	SUMO1	HGNC	B8ZZ67_HUMAN	.	UPI0000001227	SNV	SUMO1,5_prime_UTR_variant,,ENST00000392245,;SUMO1,5_prime_UTR_variant,,ENST00000392246,;SUMO1,5_prime_UTR_variant,,ENST00000409712,;SUMO1,5_prime_UTR_variant,,ENST00000409498,;SUMO1,5_prime_UTR_variant,,ENST00000409181,;SUMO1,5_prime_UTR_variant,,ENST00000409368,;SUMO1,5_prime_UTR_variant,,ENST00000392244,;SUMO1,upstream_gene_variant,,ENST00000409205,;AC079354.2,upstream_gene_variant,,ENST00000594829,;SUMO1,5_prime_UTR_variant,,ENST00000409627,;	47	52	40	SUCCESS
SP140	11262	.	GRCh37	2	231109774	231109774	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	37	0	ENST00000392045.3:c.643A>T	p.Ser215Cys	p.S215C	ENST00000392045	NM_007237.4	215	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS42831.1	643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAGCCTA	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1	.	.	ENSP00000375899	.	6/27	.	.	.	.	.	.	.	.	COSM3407648	6/27	PASS	ENST00000392045	Transcript	.	.	ENSG00000079263	17133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.887)	.	tolerated(0.13)	1	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	SNV	SP140,missense_variant,p.Ser215Cys,ENST00000343805,;SP140,missense_variant,p.Ser215Cys,ENST00000417495,;SP140,missense_variant,p.Ser215Cys,ENST00000392045,;SP140,missense_variant,p.Ser215Cys,ENST00000486687,;SP140,missense_variant,p.Ser195Cys,ENST00000350136,;SP140,missense_variant,p.Ser215Cys,ENST00000420434,;	757	37	55	SUCCESS
CHRND	1144	.	GRCh37	2	233393032	233393032	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775578238	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	57	0	ENST00000258385.3:c.304C>G	p.Arg102Gly	p.R102G	ENST00000258385	NM_000751.2	102	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS2494.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCGCCTC	NONE	byFrequency	.	hmmpanther:PTHR18945:SF61,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00254	.	.	ENSP00000258385	.	4/12	.	.	.	.	.	.	.	.	rs775578238	4/12	PASS	ENST00000258385	Transcript	.	.	ENSG00000135902	1965	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ACHD_HUMAN	CHRND	HGNC	.	.	UPI000012525E	SNV	CHRND,missense_variant,p.Arg102Gly,ENST00000536614,;CHRND,missense_variant,p.Cys11Trp,ENST00000457943,;CHRND,missense_variant,p.Arg102Gly,ENST00000258385,;CHRND,missense_variant,p.Arg87Gly,ENST00000449596,;CHRND,missense_variant,p.Arg87Gly,ENST00000543200,;PRSS56,downstream_gene_variant,,ENST00000449534,;CHRND,missense_variant,p.Arg102Gly,ENST00000412233,;CHRND,missense_variant,p.Arg102Gly,ENST00000441621,;CHRND,missense_variant,p.Arg102Gly,ENST00000446616,;PRSS56,downstream_gene_variant,,ENST00000602410,;	336	57	60	SUCCESS
STON1	11037	.	GRCh37	2	48822410	48822410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	93	0	ENST00000404752.1:c.2177C>T	p.Pro726Leu	p.P726L	ENST00000404752	NM_006873.3	726	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1841.1	2177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCAGATA	NONE	.	.	PIRSF_domain:PIRSF037099,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18	.	.	ENSP00000310969	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309835	Transcript	.	.	ENSG00000243244	17003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.282)	.	deleterious(0.04)	.	STON1_HUMAN	STON1	HGNC	.	.	UPI000006E627	SNV	STON1,missense_variant,p.Pro726Leu,ENST00000406226,;STON1,missense_variant,p.Pro726Leu,ENST00000404752,;STON1,missense_variant,p.Pro726Leu,ENST00000309835,;STON1-GTF2A1L,intron_variant,,ENST00000309827,;STON1-GTF2A1L,intron_variant,,ENST00000394754,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;STON1-GTF2A1L,intron_variant,,ENST00000405008,;STON1-GTF2A1L,intron_variant,,ENST00000394751,;STON1,3_prime_UTR_variant,,ENST00000444932,;	2187	93	91	SUCCESS
AFTPH	54812	.	GRCh37	2	64808325	64808325	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	56	0	ENST00000238855.7:c.2457T>G		p.X819_splice	ENST00000238855	NM_203437.3	819	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS46303.1	2457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTAGTGG	NONE	.	.	hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156	.	.	ENSP00000238855	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000238855	Transcript	.	.	ENSG00000119844	25951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFTIN_HUMAN	AFTPH	HGNC	.	.	UPI00003E1F8E	SNV	AFTPH,synonymous_variant,p.%3D,ENST00000422803,;AFTPH,synonymous_variant,p.%3D,ENST00000409183,;AFTPH,synonymous_variant,p.%3D,ENST00000409933,;AFTPH,synonymous_variant,p.%3D,ENST00000238855,;AFTPH,intron_variant,,ENST00000238856,;RNU6-100P,downstream_gene_variant,,ENST00000516605,;AFTPH,intron_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;	2771	56	67	SUCCESS
MCEE	84693	.	GRCh37	2	71357354	71357354	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs1170840394	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	92	293	0	ENST00000244217.5:c.-5C>A		p.*2*	ENST00000244217	NM_032601.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1915.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGAAAGC	NONE	.	.	.	.	.	ENSP00000244217	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000244217	Transcript	.	.	ENSG00000124370	16732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCEE_HUMAN	MCEE	HGNC	F5GZ54_HUMAN	.	UPI000003CA39	SNV	MCEE,5_prime_UTR_variant,,ENST00000486135,;MCEE,5_prime_UTR_variant,,ENST00000244217,;MPHOSPH10,upstream_gene_variant,,ENST00000244230,;MPHOSPH10,upstream_gene_variant,,ENST00000498451,;MCEE,upstream_gene_variant,,ENST00000494660,;AC007881.1,downstream_gene_variant,,ENST00000578636,;MPHOSPH10,upstream_gene_variant,,ENST00000468427,;	14	293	318	SUCCESS
CTNNA2	1496	.	GRCh37	2	80835353	80835353	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	50	0	ENST00000402739.4:c.2340A>T	p.Gln780His	p.Q780H	ENST00000402739	NM_001282597.1	780	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS42703.2	2340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAACGAAT	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220,Prints_domain:PR00805	.	.	ENSP00000418191	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Gln780His,ENST00000496558,;CTNNA2,missense_variant,p.Gln814His,ENST00000361291,;CTNNA2,missense_variant,p.Gln780His,ENST00000541047,;CTNNA2,missense_variant,p.Gln459His,ENST00000343114,;CTNNA2,missense_variant,p.Gln780His,ENST00000466387,;CTNNA2,missense_variant,p.Gln780His,ENST00000402739,;CTNNA2,intron_variant,,ENST00000540488,;AC008067.2,intron_variant,,ENST00000609950,;AC008067.2,intron_variant,,ENST00000430876,;AC008067.2,upstream_gene_variant,,ENST00000599412,;AC008067.2,upstream_gene_variant,,ENST00000595478,;AC008067.2,upstream_gene_variant,,ENST00000596783,;AC008067.2,upstream_gene_variant,,ENST00000596887,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000467892,;	3064	50	60	SUCCESS
TOMM70A	0	.	GRCh37	3	100105787	100105787	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	104	0	ENST00000284320.5:c.360A>G	p.Lys120=	p.K120=	ENST00000284320	NM_014820.4	120	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS33807.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTTTATT	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR22904:SF178,hmmpanther:PTHR22904,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000284320	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000284320	Transcript	.	.	ENSG00000154174	11985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM70_HUMAN	TOMM70A	HGNC	B4DZ87_HUMAN,B3KQK5_HUMAN,B3KQK0_HUMAN	.	UPI0000000C55	SNV	TOMM70A,synonymous_variant,p.%3D,ENST00000284320,;	809	104	119	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119133155	119133155	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	78	0	ENST00000264245.4:c.2379G>C	p.Glu793Asp	p.E793D	ENST00000264245	NM_020754.2	793	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS43135.1	2379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGTCAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,missense_variant,p.Glu793Asp,ENST00000264245,;	2911	78	98	SUCCESS
ATR	545	.	GRCh37	3	142278092	142278092	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	56	135	0	ENST00000350721.4:c.1732+1G>T		p.X578_splice	ENST00000350721	NM_001184.3	578		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3124.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCTTGC	NONE	.	.	.	.	.	ENSP00000343741	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	HIGH	7/46	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,splice_donor_variant,,ENST00000515149,;ATR,splice_donor_variant,,ENST00000383101,;ATR,splice_donor_variant,,ENST00000350721,;ATR,upstream_gene_variant,,ENST00000515863,;ATR,downstream_gene_variant,,ENST00000507148,;	.	135	165	SUCCESS
ANKRD18DP	348840	.	GRCh37	3	197804154	197804154	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	54	0	ENST00000435620.2:n.362T>G		p.*121*	ENST00000435620				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGAACAGTC	NONE	.	.	.	.	.	.	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000435620	Transcript	.	.	ENSG00000226435	28016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKRD18DP	HGNC	.	.	.	SNV	ANKRD18DP,non_coding_transcript_exon_variant,,ENST00000335478,;ANKRD18DP,non_coding_transcript_exon_variant,,ENST00000435620,;ANKRD18DP,non_coding_transcript_exon_variant,,ENST00000455355,;	362	54	74	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	87	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	88	114	SUCCESS
ERC2	26059	.	GRCh37	3	55768826	55768826	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749739992	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	39	75	0	ENST00000288221.6:c.2685C>G	p.Asp895Glu	p.D895E	ENST00000288221	NM_015576.1	895	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS46851.1	2685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCGGTCTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Pfam_domain:PF10174	.	.	ENSP00000288221	.	15/18	.	.	.	.	.	.	.	.	rs749739992	15/18	PASS	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.1)	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,missense_variant,p.Asp895Glu,ENST00000288221,;ERC2,downstream_gene_variant,,ENST00000492584,;ERC2,non_coding_transcript_exon_variant,,ENST00000487287,;ERC2,missense_variant,p.Asp895Glu,ENST00000460849,;	2941	75	113	SUCCESS
TBCK	93627	.	GRCh37	4	107133975	107133975	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	116	318	0	ENST00000273980.5:c.1792T>A	p.Ser598Thr	p.S598T	ENST00000273980		598	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54788.1	1792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGAGAAGA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF22,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923,Superfamily_domains:SSF47923	.	.	ENSP00000273980	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000273980	Transcript	.	.	ENSG00000145348	28261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	deleterious(0.05)	.	TBCK_HUMAN	TBCK	HGNC	D6RDY5_HUMAN,D6RDG2_HUMAN,D6RC61_HUMAN,D6R950_HUMAN	.	UPI000013EF70	SNV	TBCK,missense_variant,p.Ser559Thr,ENST00000394706,;TBCK,missense_variant,p.Ser535Thr,ENST00000361687,;TBCK,missense_variant,p.Ser598Thr,ENST00000273980,;TBCK,missense_variant,p.Ser598Thr,ENST00000394708,;TBCK,missense_variant,p.Ser598Thr,ENST00000432496,;TBCK,non_coding_transcript_exon_variant,,ENST00000506615,;TBCK,non_coding_transcript_exon_variant,,ENST00000515705,;TBCK,non_coding_transcript_exon_variant,,ENST00000514689,;TBCK,non_coding_transcript_exon_variant,,ENST00000511011,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;	2240	318	376	SUCCESS
ANK2	287	.	GRCh37	4	114276434	114276434	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	53	99	0	ENST00000357077.4:c.6660G>A	p.Glu2220=	p.E2220=	ENST00000357077	NM_001148.4	2220	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS3702.1	6660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAGGGGAC	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,synonymous_variant,p.%3D,ENST00000264366,;ANK2,synonymous_variant,p.%3D,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	6713	99	116	SUCCESS
MAP9	79884	.	GRCh37	4	156294546	156294546	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	65	0	ENST00000311277.4:c.223G>A	p.Asp75Asn	p.D75N	ENST00000311277	NM_001039580.1	75	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS35493.1	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCATTCA	NONE	.	.	hmmpanther:PTHR14739	.	.	ENSP00000310593	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000311277	Transcript	.	.	ENSG00000164114	26118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious(0.04)	.	MAP9_HUMAN	MAP9	HGNC	C9JXH8_HUMAN,A2VCT0_HUMAN	.	UPI000020B618	SNV	MAP9,missense_variant,p.Asp75Asn,ENST00000311277,;MAP9,missense_variant,p.Asp3Asn,ENST00000379248,;MAP9,missense_variant,p.Asp75Asn,ENST00000515654,;MAP9,missense_variant,p.Asp75Asn,ENST00000433024,;MAP9,downstream_gene_variant,,ENST00000450097,;AC097467.2,intron_variant,,ENST00000596165,;AC097467.2,downstream_gene_variant,,ENST00000597831,;MAP9,missense_variant,p.Asp75Asn,ENST00000424373,;MAP9,non_coding_transcript_exon_variant,,ENST00000481250,;	487	65	62	SUCCESS
DHX15	1665	.	GRCh37	4	24531339	24531339	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	138	0	ENST00000336812.4:c.2155G>A	p.Val719Ile	p.V719I	ENST00000336812	NM_001358.2	719	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS33966.1	2155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAACCACCT	NONE	.	.	hmmpanther:PTHR18934:SF95,hmmpanther:PTHR18934,Pfam_domain:PF07717	.	.	ENSP00000336741	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000336812	Transcript	.	.	ENSG00000109606	2738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.301)	.	deleterious(0)	.	DHX15_HUMAN	DHX15	HGNC	.	.	UPI000012907A	SNV	DHX15,missense_variant,p.Val719Ile,ENST00000336812,;DHX15,non_coding_transcript_exon_variant,,ENST00000513036,;DHX15,non_coding_transcript_exon_variant,,ENST00000512903,;DHX15,non_coding_transcript_exon_variant,,ENST00000504279,;DHX15,non_coding_transcript_exon_variant,,ENST00000508032,;DHX15,non_coding_transcript_exon_variant,,ENST00000510645,;DHX15,intron_variant,,ENST00000508368,;	2312	138	133	SUCCESS
ANXA3	306	.	GRCh37	4	79475642	79475642	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	43	0	ENST00000264908.6:c.15G>T	p.Trp5Cys	p.W5C	ENST00000264908	NM_005139.2	5	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS3584.1	15	MUTECT|MUSE	.	ATCTGGGTAAG	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25	.	.	ENSP00000264908	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.872)	.	tolerated(0.17)	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,missense_variant,p.Trp5Cys,ENST00000514171,;ANXA3,missense_variant,p.Trp5Cys,ENST00000264908,;ANXA3,missense_variant,p.Trp5Cys,ENST00000512373,;ANXA3,missense_variant,p.Trp5Cys,ENST00000512542,;ANXA3,missense_variant,p.Trp5Cys,ENST00000508214,;ANXA3,splice_region_variant,,ENST00000503570,;ANXA3,splice_region_variant,,ENST00000512884,;ANXA3,splice_region_variant,,ENST00000510502,;	394	43	45	SUCCESS
CATSPER3	347732	.	GRCh37	5	134332010	134332010	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777588115	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	47	0	ENST00000282611.6:c.300G>T	p.Met100Ile	p.M100I	ENST00000282611	NM_178019.2	100	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4181.1	300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGAAGGT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF197,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000282611	.	3/8	.	.	.	.	.	.	.	.	rs777588115	3/8	PASS	ENST00000282611	Transcript	.	.	ENSG00000152705	20819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	tolerated(0.14)	.	CTSR3_HUMAN	CATSPER3	HGNC	.	.	UPI0000034D60	SNV	CATSPER3,missense_variant,p.Met100Ile,ENST00000282611,;CATSPER3,downstream_gene_variant,,ENST00000511235,;PCBD2,3_prime_UTR_variant,,ENST00000504352,;	386	47	43	SUCCESS
TRIM52	84851	.	GRCh37	5	180687293	180687293	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	74	0	ENST00000327767.4:c.522C>T	p.Ser174=	p.S174=	ENST00000327767	NM_032765.2	174	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4467.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGGAAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103,SMART_domains:SM00184	.	.	ENSP00000332152	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000327767	Transcript	.	.	ENSG00000183718	19024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI52_HUMAN	TRIM52	HGNC	L0CQ38_HUMAN	.	UPI0000072D52	SNV	TRIM52,synonymous_variant,p.%3D,ENST00000327767,;AC008443.1,downstream_gene_variant,,ENST00000599439,;CTC-338M12.4,intron_variant,,ENST00000511331,;CTC-338M12.4,downstream_gene_variant,,ENST00000506340,;TRIM52-AS1,upstream_gene_variant,,ENST00000433265,;TRIM52-AS1,upstream_gene_variant,,ENST00000507434,;CTC-338M12.4,downstream_gene_variant,,ENST00000505151,;TRIM52-AS1,upstream_gene_variant,,ENST00000514146,;TRIM52-AS1,upstream_gene_variant,,ENST00000509252,;CTC-338M12.4,downstream_gene_variant,,ENST00000417281,;TRIM52,non_coding_transcript_exon_variant,,ENST00000514805,;TRIM52,non_coding_transcript_exon_variant,,ENST00000503005,;TRIM52,upstream_gene_variant,,ENST00000510796,;TRIM52,upstream_gene_variant,,ENST00000513146,;	827	75	109	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33546183	33546183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	79	234	0	ENST00000504830.1:c.4427C>A	p.Ala1476Asp	p.A1476D	ENST00000504830	NM_030955.2	1476	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS34140.1	4427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGCCCAG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000422554	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	deleterious(0.03)	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,missense_variant,p.Ala1476Asp,ENST00000504830,;ADAMTS12,missense_variant,p.Ala1391Asp,ENST00000352040,;	4763	234	269	SUCCESS
HIST1H2AD	0	.	GRCh37	6	26199183	26199183	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	258	47	144	2	ENST00000341023.1:c.289T>C	p.Leu97=	p.L97=	ENST00000341023	NM_021065.3	97	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS4591.1	289	RADIA|SOMATICSNIPER|VARSCANS	.	CAGCAACTTGT	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113	.	.	ENSP00000341094	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341023	Transcript	.	.	ENSG00000196866	4729	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H2A1D_HUMAN	HIST1H2AD	HGNC	.	.	UPI0000001C04	SNV	HIST1H2AD,synonymous_variant,p.%3D,ENST00000341023,;HIST1H3D,5_prime_UTR_variant,,ENST00000377831,;HIST1H2BF,upstream_gene_variant,,ENST00000359985,;HIST1H3D,upstream_gene_variant,,ENST00000356476,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;	289	146	305	SUCCESS
GABBR1	2550	.	GRCh37	6	29591163	29591163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	47	123	0	ENST00000377034.4:c.882C>A	p.Asn294Lys	p.N294K	ENST00000377034	NM_001470.2	294	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS4663.1	882	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGGTTGTG	NONE	.	.	hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01176	.	.	ENSP00000366233	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.093)	.	deleterious(0)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Asn232Lys,ENST00000377016,;GABBR1,missense_variant,p.Asn294Lys,ENST00000376977,;GABBR1,missense_variant,p.Asn177Lys,ENST00000355973,;GABBR1,missense_variant,p.Asn177Lys,ENST00000377012,;GABBR1,missense_variant,p.Asn294Lys,ENST00000377034,;GABBR1,missense_variant,p.Asn294Lys,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000485508,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000477029,;GABBR1,upstream_gene_variant,,ENST00000494634,;GABBR1,downstream_gene_variant,,ENST00000489385,;	1218	124	251	SUCCESS
DDAH2	23564	.	GRCh37	6	31697012	31697012	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	39	26	0	ENST00000375787.2:c.-60-14C>T		p.*20*	ENST00000375787	NM_013974.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4718.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGAAACA	NONE	.	.	.	.	.	ENSP00000364945	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000375789	Transcript	.	.	ENSG00000213722	2716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDAH2_HUMAN	DDAH2	HGNC	Q5SSV3_HUMAN,Q5SRR8_HUMAN	.	UPI0000033BA3	SNV	DDAH2,5_prime_UTR_variant,,ENST00000375789,;DDAH2,intron_variant,,ENST00000375787,;DDAH2,intron_variant,,ENST00000375792,;DDAH2,intron_variant,,ENST00000416410,;DDAH2,intron_variant,,ENST00000436437,;CLIC1,downstream_gene_variant,,ENST00000395892,;C6orf25,downstream_gene_variant,,ENST00000375809,;C6orf25,downstream_gene_variant,,ENST00000375804,;CLIC1,downstream_gene_variant,,ENST00000375784,;DDAH2,upstream_gene_variant,,ENST00000437288,;C6orf25,downstream_gene_variant,,ENST00000375806,;C6orf25,downstream_gene_variant,,ENST00000375814,;C6orf25,downstream_gene_variant,,ENST00000480039,;C6orf25,downstream_gene_variant,,ENST00000375805,;CLIC1,downstream_gene_variant,,ENST00000375779,;CLIC1,downstream_gene_variant,,ENST00000375780,;C6orf25,downstream_gene_variant,,ENST00000375810,;DDAH2,intron_variant,,ENST00000483792,;DDAH2,intron_variant,,ENST00000480913,;DDAH2,non_coding_transcript_exon_variant,,ENST00000469963,;DDAH2,intron_variant,,ENST00000488119,;C6orf25,downstream_gene_variant,,ENST00000471545,;C6orf25,downstream_gene_variant,,ENST00000485548,;C6orf25,downstream_gene_variant,,ENST00000460663,;C6orf25,downstream_gene_variant,,ENST00000466312,;	558	26	67	SUCCESS
COL11A2	1302	.	GRCh37	6	33145004	33145004	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	67	63	0	ENST00000374708.4:c.1714-2A>G		p.X572_splice	ENST00000374708	NM_080681.2	572		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43452.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTACATA	NONE	.	.	.	.	.	ENSP00000363840	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	HIGH	21/63	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,splice_acceptor_variant,,ENST00000395197,;COL11A2,splice_acceptor_variant,,ENST00000374713,;COL11A2,splice_acceptor_variant,,ENST00000361917,;COL11A2,splice_acceptor_variant,,ENST00000374712,;COL11A2,splice_acceptor_variant,,ENST00000357486,;COL11A2,splice_acceptor_variant,,ENST00000374708,;COL11A2,splice_acceptor_variant,,ENST00000341947,;COL11A2,splice_acceptor_variant,,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,splice_acceptor_variant,,ENST00000477772,;	.	63	123	SUCCESS
MDFI	4188	.	GRCh37	6	41606344	41606344	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	12	0	ENST00000230321.6:c.-58C>A		p.*20*	ENST00000230321	NM_005586.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4857.1	.	MUTECT|MUSE	.	CGGGCCCCGCG	NONE	.	.	.	.	.	ENSP00000230321	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000230321	Transcript	.	.	ENSG00000112559	6967	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDFI_HUMAN	MDFI	HGNC	B1AKC1_HUMAN,B1AKC0_HUMAN,B1AKB8_HUMAN,B1AKB7_HUMAN	.	UPI000012EE0C	SNV	MDFI,5_prime_UTR_variant,,ENST00000446650,;MDFI,5_prime_UTR_variant,,ENST00000230321,;MDFI,5_prime_UTR_variant,,ENST00000435476,;MDFI,5_prime_UTR_variant,,ENST00000373050,;MDFI,intron_variant,,ENST00000441667,;MDFI,intron_variant,,ENST00000419164,;MDFI,intron_variant,,ENST00000373051,;MDFI,intron_variant,,ENST00000432027,;	160	12	44	SUCCESS
CRIP3	401262	.	GRCh37	6	43274045	43274045	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755721027	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	16	48	0	ENST00000274990.4:c.407A>T	p.Lys136Met	p.K136M	ENST00000274990		136	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS4894.2	407	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTTCTCA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	rs755721027	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.785)	.	deleterious(0)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Lys8Met,ENST00000451294,;CRIP3,missense_variant,p.Lys60Met,ENST00000416431,;CRIP3,missense_variant,p.Lys136Met,ENST00000274990,;CRIP3,missense_variant,p.Lys136Met,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	412	48	124	SUCCESS
CRIP3	401262	.	GRCh37	6	43274046	43274046	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	15	47	0	ENST00000274990.4:c.406A>G	p.Lys136Glu	p.K136E	ENST00000274990		136	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4894.2	406	RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTCTCAG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.226)	.	deleterious(0.03)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Lys8Glu,ENST00000451294,;CRIP3,missense_variant,p.Lys60Glu,ENST00000416431,;CRIP3,missense_variant,p.Lys136Glu,ENST00000274990,;CRIP3,missense_variant,p.Lys136Glu,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	411	47	124	SUCCESS
GTPBP2	54676	.	GRCh37	6	43592642	43592642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	66	0	ENST00000307126.5:c.863G>T	p.Ser288Ile	p.S288I	ENST00000307126	NM_019096.3	288	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS4903.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACTGACG	NONE	.	.	hmmpanther:PTHR23115:SF24,hmmpanther:PTHR23115,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540	.	.	ENSP00000303997	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000307126	Transcript	.	.	ENSG00000172432	4670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0)	.	GTPB2_HUMAN	GTPBP2	HGNC	.	.	UPI0000070C45	SNV	GTPBP2,missense_variant,p.Ser200Ile,ENST00000307114,;GTPBP2,missense_variant,p.Ser288Ile,ENST00000307126,;GTPBP2,missense_variant,p.Ser254Ile,ENST00000442748,;MAD2L1BP,upstream_gene_variant,,ENST00000451025,;GTPBP2,downstream_gene_variant,,ENST00000452781,;GTPBP2,upstream_gene_variant,,ENST00000419497,;GTPBP2,upstream_gene_variant,,ENST00000432918,;GTPBP2,non_coding_transcript_exon_variant,,ENST00000480263,;GTPBP2,non_coding_transcript_exon_variant,,ENST00000476510,;GTPBP2,upstream_gene_variant,,ENST00000459959,;GTPBP2,upstream_gene_variant,,ENST00000496137,;	863	66	131	SUCCESS
KCP	375616	.	GRCh37	7	128531136	128531136	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	56	0	ENST00000476647.2:n.2030G>T		p.*677*	ENST00000476647				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCGGGGG	NONE	.	.	.	.	.	.	.	20/40	.	.	.	.	.	.	.	.	.	20/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000487494,;KCP,non_coding_transcript_exon_variant,,ENST00000479474,;	2030	56	79	SUCCESS
ZNF746	155061	.	GRCh37	7	149172236	149172236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	57	0	ENST00000340622.3:c.1174A>T	p.Asn392Tyr	p.N392Y	ENST00000340622		392	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS55180.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTTCAGGC	NONE	.	.	hmmpanther:PTHR24402:SF13,hmmpanther:PTHR24402	.	.	ENSP00000395007	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000458143	Transcript	.	.	ENSG00000181220	21948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	ZN746_HUMAN	ZNF746	HGNC	Q96N48_HUMAN	.	UPI00015DA840	SNV	ZNF746,missense_variant,p.Asn392Tyr,ENST00000340622,;ZNF746,missense_variant,p.Asn393Tyr,ENST00000458143,;ZNF746,downstream_gene_variant,,ENST00000471735,;	1448	57	66	SUCCESS
HNRNPA2B1	3181	.	GRCh37	7	26232938	26232940	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	87	0	ENST00000354667.4:c.931_933del	p.Ser311del	p.S311del	ENST00000354667	NM_031243.2	311	TCT/-	0	.	.	.	.	.	-	S/-	protein_coding	YES	CCDS43557.1	931-933	VARSCANI*|PINDEL	.	GTAGTTAGAAGGTT	NONE	.	.	hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012	.	.	ENSP00000346694	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000354667	Transcript	.	.	ENSG00000122566	5033	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROA2_HUMAN	HNRNPA2B1	HGNC	.	.	UPI000002F091	deletion	HNRNPA2B1,inframe_deletion,p.Ser311del,ENST00000354667,;HNRNPA2B1,inframe_deletion,p.Ser299del,ENST00000356674,;HNRNPA2B1,upstream_gene_variant,,ENST00000476233,;HNRNPA2B1,inframe_deletion,p.Ser311del,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,downstream_gene_variant,,ENST00000495810,;	1100-1102	87	85	SUCCESS
CARD11	84433	.	GRCh37	7	2978336	2978336	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	24	0	ENST00000396946.4:c.994C>T	p.Gln332Ter	p.Q332*	ENST00000396946	NM_032415.4	332	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5336.2	994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGCGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,stop_gained,p.Gln332Ter,ENST00000396946,;	1398	24	32	SUCCESS
ABCA13	154664	.	GRCh37	7	48428782	48428782	+	synonymous_variant	Silent	SNP	G	G	A	rs370720475	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	49	130	1	ENST00000435803.1:c.11619G>A	p.Leu3873=	p.L3873=	ENST00000435803	NM_152701.3	3873	ctG/ctA	0	C:0	.	.	.	.	A	L	protein_coding	YES	CCDS47584.1	11619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGCTGGG	BUFFER|p.T3871T|c.11613C>T|4,BUFFER|p.T3816T|c.11448C>T|4	byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	C:0.0001	ENSP00000411096	.	37/62	.	.	.	.	.	.	.	.	rs370720475	37/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,synonymous_variant,p.%3D,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	11643	131	142	SUCCESS
PCLO	27445	.	GRCh37	7	82582023	82582023	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	45	83	0	ENST00000333891.9:c.8246C>A	p.Ala2749Asp	p.A2749D	ENST00000333891	NM_033026.5	2749	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS47630.1	8246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAAGCAGAA	BUFFER|p.D2746N|c.8236G>A|3,BUFFER|p.D2746N|c.8236G>A|3,BUFFER|p.D2677N|c.8029G>A|3	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ala2749Asp,ENST00000333891,;PCLO,missense_variant,p.Ala2749Asp,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	8584	83	126	SUCCESS
CPSF1	29894	.	GRCh37	8	145625402	145625402	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	24	94	0	ENST00000349769.3:c.1011C>G	p.Ile337Met	p.I337M	ENST00000349769	NM_013291.2	337	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS34966.1	1011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGATGAC	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2,Pfam_domain:PF10433	.	.	ENSP00000339353	.	10/38	.	.	.	.	.	.	.	.	.	10/38	PASS	ENST00000349769	Transcript	.	.	ENSG00000071894	2324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	CPSF1_HUMAN	CPSF1	HGNC	Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN	.	UPI00001282EE	SNV	CPSF1,missense_variant,p.Ile337Met,ENST00000349769,;CPSF1,downstream_gene_variant,,ENST00000531042,;MIR1234,downstream_gene_variant,,ENST00000408875,;CPSF1,non_coding_transcript_exon_variant,,ENST00000532560,;CPSF1,non_coding_transcript_exon_variant,,ENST00000531683,;CPSF1,upstream_gene_variant,,ENST00000533492,;CPSF1,upstream_gene_variant,,ENST00000529288,;CPSF1,upstream_gene_variant,,ENST00000527916,;CPSF1,upstream_gene_variant,,ENST00000527827,;	1106	94	136	SUCCESS
MAPKAP1	79109	.	GRCh37	9	128305415	128305415	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	90	0	ENST00000265960.3:c.881T>C	p.Val294Ala	p.V294A	ENST00000265960	NM_001006617.1	294	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS35140.1	881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCACCTGA	NONE	.	.	Pfam_domain:PF05422,hmmpanther:PTHR13335	.	.	ENSP00000265960	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000265960	Transcript	.	.	ENSG00000119487	18752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.411)	.	tolerated(0.08)	.	SIN1_HUMAN	MAPKAP1	HGNC	B1AMB1_HUMAN,B1AMA6_HUMAN	.	UPI00000372F6	SNV	MAPKAP1,missense_variant,p.Val102Ala,ENST00000373503,;MAPKAP1,missense_variant,p.Val294Ala,ENST00000373498,;MAPKAP1,missense_variant,p.Val102Ala,ENST00000427078,;MAPKAP1,missense_variant,p.Val102Ala,ENST00000420643,;MAPKAP1,missense_variant,p.Val102Ala,ENST00000394063,;MAPKAP1,missense_variant,p.Val294Ala,ENST00000350766,;MAPKAP1,missense_variant,p.Val294Ala,ENST00000394060,;MAPKAP1,missense_variant,p.Val294Ala,ENST00000265960,;MAPKAP1,missense_variant,p.Val294Ala,ENST00000373511,;MAPKAP1,missense_variant,p.Val43Ala,ENST00000373497,;MAPKAP1,missense_variant,p.Val102Ala,ENST00000497932,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000473837,;	1214	90	104	SUCCESS
FAM78A	286336	.	GRCh37	9	134139976	134139976	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	48	0	ENST00000372271.3:c.324-3239C>T		p.*108*	ENST00000372271	NM_033387.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6941.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGTGCA	NONE	.	.	.	.	.	ENSP00000361345	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372271	Transcript	.	.	ENSG00000126882	25465	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA78A_HUMAN	FAM78A	HGNC	.	.	UPI000013F430	SNV	FAM78A,stop_gained,p.Gln63Ter,ENST00000372269,;FAM78A,stop_gained,p.Gln35Ter,ENST00000464831,;FAM78A,intron_variant,,ENST00000372271,;FAM78A,non_coding_transcript_exon_variant,,ENST00000247295,;	.	48	70	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136308565	136308565	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369510827	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	93	0	ENST00000371929.3:c.2303G>T	p.Arg768Leu	p.R768L	ENST00000371929	NM_139025.4	768	cGc/cTc	0	A:0.0005	.	.	.	.	T	R/L	protein_coding	YES	CCDS6970.1	2303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCGCTGCG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	A:0	ENSP00000360997	.	19/29	.	.	.	.	.	.	.	.	rs369510827	19/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.16)	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,missense_variant,p.Arg768Leu,ENST00000355699,;ADAMTS13,missense_variant,p.Arg737Leu,ENST00000356589,;ADAMTS13,missense_variant,p.Arg768Leu,ENST00000371929,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,intron_variant,,ENST00000536611,;ADAMTS13,intron_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;ADAMTS13,intron_variant,,ENST00000495234,;	2747	93	118	SUCCESS
ABCA2	20	.	GRCh37	9	139906760	139906760	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	55	0	ENST00000341511.6:c.5256G>A	p.Leu1752=	p.L1752=	ENST00000341511	NM_212533.2	1752	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43909.1	5256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGCAGGAT	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116	.	.	ENSP00000344155	.	33/49	.	.	.	.	.	.	.	.	.	33/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,synonymous_variant,p.%3D,ENST00000371605,;ABCA2,synonymous_variant,p.%3D,ENST00000341511,;ABCA2,synonymous_variant,p.%3D,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000490486,;ABCA2,upstream_gene_variant,,ENST00000448336,;ABCA2,upstream_gene_variant,,ENST00000464157,;ABCA2,upstream_gene_variant,,ENST00000437791,;ABCA2,upstream_gene_variant,,ENST00000463603,;ABCA2,synonymous_variant,p.%3D,ENST00000479446,;ABCA2,synonymous_variant,p.%3D,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000431584,;ABCA2,upstream_gene_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000488535,;	5306	55	60	SUCCESS
DPP7	29952	.	GRCh37	9	140008389	140008402	+	frameshift_variant	Frame_Shift_Del	DEL	AAGTCGGCCAGGGC	AAGTCGGCCAGGGC	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	AAGTCGGCCAGGGC	AAGTCGGCCAGGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	51	0	ENST00000371579.2:c.400_413del	p.Ala134ArgfsTer72	p.A134Rfs*72	ENST00000371579	NM_013379.2	134	GCCCTGGCCGACTTc/c	0	.	.	.	.	.	-	ALADF/X	protein_coding	YES	CCDS7030.1	400-413	INDELOCATOR*|PINDEL	.	TCTGCGAAGTCGGCCAGGGCCTGCT	NONE	.	.	hmmpanther:PTHR11010:SF29,hmmpanther:PTHR11010,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474	.	.	ENSP00000360635	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000371579	Transcript	.	.	ENSG00000176978	14892	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPP2_HUMAN	DPP7	HGNC	.	.	UPI00001AF169	deletion	DPP7,frameshift_variant,p.Ala131ArgfsTer49,ENST00000497375,;DPP7,frameshift_variant,p.Ala134ArgfsTer72,ENST00000371579,;DPP7,5_prime_UTR_variant,,ENST00000473703,;MAN1B1,downstream_gene_variant,,ENST00000550113,;DPP7,upstream_gene_variant,,ENST00000463619,;MAN1B1,downstream_gene_variant,,ENST00000475449,;MAN1B1,downstream_gene_variant,,ENST00000474902,;MAN1B1,downstream_gene_variant,,ENST00000371589,;MAN1B1,downstream_gene_variant,,ENST00000540391,;DPP7,frameshift_variant,p.Ala84ArgfsTer45,ENST00000473532,;DPP7,3_prime_UTR_variant,,ENST00000472306,;DPP7,non_coding_transcript_exon_variant,,ENST00000491807,;DPP7,non_coding_transcript_exon_variant,,ENST00000485456,;DPP7,non_coding_transcript_exon_variant,,ENST00000478597,;DPP7,upstream_gene_variant,,ENST00000482088,;DPP7,upstream_gene_variant,,ENST00000483783,;MAN1B1,downstream_gene_variant,,ENST00000535028,;MAN1B1,downstream_gene_variant,,ENST00000536349,;DPP7,upstream_gene_variant,,ENST00000460830,;DPP7,upstream_gene_variant,,ENST00000470766,;MAN1B1,downstream_gene_variant,,ENST00000480100,;	405-418	51	47	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43626664	43626664	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753766498	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	26	0	ENST00000332857.6:c.2023C>A	p.Pro675Thr	p.P675T	ENST00000332857	NM_001145196.1	675	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47973.1	2023	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTGTGGGGTCT	NONE	byFrequency	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF14650	.	.	ENSP00000329825	.	4/4	.	.	.	.	.	.	.	.	rs753766498	4/4	PASS	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.377)	.	deleterious(0.04)	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,missense_variant,p.Pro675Thr,ENST00000332857,;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	2052	26	30	SUCCESS
FRMPD3	84443	.	GRCh37	X	106846296	106846296	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	33	69	0	ENST00000276185.4:c.5126T>C	p.Leu1709Pro	p.L1709P	ENST00000276185		1709	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	5126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTGGTGT	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6	.	.	ENSP00000276185	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,missense_variant,p.Leu1709Pro,ENST00000276185,;FRMPD3,missense_variant,p.Leu1657Pro,ENST00000439554,;	5126	69	58	SUCCESS
TMEM164	84187	.	GRCh37	X	109247389	109247389	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758775231	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	16	0	ENST00000372068.2:c.387G>A	p.Met129Ile	p.M129I	ENST00000372068	NM_032227.3	129	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS14550.2	387	MUTECT|MUSE	.	ATGATGCATGT	NONE	.	.	Pfam_domain:PF14808,hmmpanther:PTHR20948:SF2,hmmpanther:PTHR20948,Transmembrane_helices:TMhelix	.	.	ENSP00000361143	.	2/7	.	.	.	.	.	.	.	.	rs758775231	2/7	PASS	ENST00000372073	Transcript	.	.	ENSG00000157600	26217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(1)	.	TM164_HUMAN	TMEM164	HGNC	.	.	UPI00004560FF	SNV	TMEM164,missense_variant,p.Met129Ile,ENST00000372073,;TMEM164,missense_variant,p.Met129Ile,ENST00000288381,;TMEM164,missense_variant,p.Met129Ile,ENST00000372068,;TMEM164,intron_variant,,ENST00000372072,;TMEM164,non_coding_transcript_exon_variant,,ENST00000471255,;TMEM164,downstream_gene_variant,,ENST00000497754,;	723	16	19	SUCCESS
TRO	7216	.	GRCh37	X	54957051	54957051	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	34	30	0	ENST00000173898.7:c.3894T>C	p.Ser1298=	p.S1298=	ENST00000173898	NM_001039705.2	1298	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43959.1	3894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGTTTCGG	NONE	.	.	.	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,synonymous_variant,p.%3D,ENST00000375041,;TRO,synonymous_variant,p.%3D,ENST00000420798,;TRO,synonymous_variant,p.%3D,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;PFKFB1,downstream_gene_variant,,ENST00000545676,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000374992,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	4006	30	48	SUCCESS
CXCR3	2833	.	GRCh37	X	70836725	70836725	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	53	76	0	ENST00000373693.3:c.597C>A	p.Asn199Lys	p.N199K	ENST00000373693	NM_001504.1	199	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS48135.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTTGAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF27,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000362795	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373691	Transcript	.	.	ENSG00000186810	4540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.24)	.	CXCR3_HUMAN	CXCR3	HGNC	.	.	UPI00001A92CE	SNV	CXCR3,missense_variant,p.Asn199Lys,ENST00000373693,;CXCR3,missense_variant,p.Asn246Lys,ENST00000373691,;ACRC,downstream_gene_variant,,ENST00000373695,;ACRC,downstream_gene_variant,,ENST00000373696,;ACRC,downstream_gene_variant,,ENST00000471950,;	902	76	73	SUCCESS
KIAA2022	0	.	GRCh37	X	73963704	73963704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	64	91	0	ENST00000055682.6:c.688C>A	p.Pro230Thr	p.P230T	ENST00000055682	NM_001008537.2	230	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS35337.1	688	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGGATCCT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	deleterious(0.01)	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,missense_variant,p.Pro230Thr,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	1300	91	101	SUCCESS
TECTB	6975	.	GRCh37	10	114046125	114046125	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	120	0	ENST00000369422.3:c.459C>T	p.Ser153=	p.S153=	ENST00000369422	NM_058222.2	153	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7571.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCCAACT	NONE	.	.	PROSITE_profiles:PS51034,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241	.	.	ENSP00000358430	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000369422	Transcript	.	.	ENSG00000119913	11721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TECTB_HUMAN	TECTB	HGNC	.	.	UPI00000720CC	SNV	TECTB,synonymous_variant,p.%3D,ENST00000369422,;	459	120	73	SUCCESS
MKI67	4288	.	GRCh37	10	129905646	129905646	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs777357041	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	44	147	0	ENST00000368654.3:c.4458C>G	p.His1486Gln	p.H1486Q	ENST00000368654	NM_002417.4	1486	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS7659.1	4458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCGTGAGT	NONE	byFrequency	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	rs777357041	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.53)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.His1486Gln,ENST00000368654,;MKI67,missense_variant,p.His1126Gln,ENST00000368653,;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,;	4834	147	127	SUCCESS
TUBGCP2	10844	.	GRCh37	10	135098648	135098648	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	59	0	ENST00000252936.3:c.1965C>T	p.Leu655=	p.L655=	ENST00000252936		655	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS58105.1	2049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGAGCTG	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF13,Pfam_domain:PF04130	.	.	ENSP00000446093	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000543663	Transcript	.	.	ENSG00000130640	18599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCP2_HUMAN	TUBGCP2	HGNC	B3KTU7_HUMAN	.	UPI00020651C0	SNV	TUBGCP2,synonymous_variant,p.%3D,ENST00000252936,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368562,;TUBGCP2,synonymous_variant,p.%3D,ENST00000417178,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368563,;TUBGCP2,synonymous_variant,p.%3D,ENST00000543663,;TUBGCP2,upstream_gene_variant,,ENST00000477923,;TUBGCP2,synonymous_variant,p.%3D,ENST00000482278,;	2089	59	51	SUCCESS
ANK3	288	.	GRCh37	10	61832432	61832432	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	30	100	0	ENST00000280772.2:c.8207A>T	p.Glu2736Val	p.E2736V	ENST00000280772	NM_020987.3	2736	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7258.1	8207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTTCTTGA	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Glu2736Val,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	8399	100	126	SUCCESS
ATP5C1	0	.	GRCh37	10	7830138	7830138	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	69	0	ENST00000356708.7:c.-33G>T		p.*11*	ENST00000356708	NM_001001973.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31142.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGCCTGA	NONE	.	.	.	.	.	ENSP00000349142	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000356708	Transcript	.	.	ENSG00000165629	833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATPG_HUMAN	ATP5C1	HGNC	Q8TAS0_HUMAN,B4DL14_HUMAN,B4DFE6_HUMAN	.	UPI0000126574	SNV	ATP5C1,5_prime_UTR_variant,,ENST00000356708,;ATP5C1,upstream_gene_variant,,ENST00000335698,;KIN,upstream_gene_variant,,ENST00000379562,;ATP5C1,upstream_gene_variant,,ENST00000541227,;KIN,upstream_gene_variant,,ENST00000535925,;KIN,upstream_gene_variant,,ENST00000543003,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000493053,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000462760,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000460362,;ATP5C1,upstream_gene_variant,,ENST00000460820,;ATP5C1,upstream_gene_variant,,ENST00000465936,;ATP5C1,upstream_gene_variant,,ENST00000472202,;	47	69	74	SUCCESS
LARP4B	23185	.	GRCh37	10	875345	875345	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	46	116	0	ENST00000316157.3:c.1105A>T	p.Ser369Cys	p.S369C	ENST00000316157	NM_015155.2	369	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31131.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTGTGCG	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43	.	.	ENSP00000326128	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000316157	Transcript	.	.	ENSG00000107929	28987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	LAR4B_HUMAN	LARP4B	HGNC	B5MCU2_HUMAN	.	UPI00001F8C87	SNV	LARP4B,missense_variant,p.Ser369Cys,ENST00000316157,;LARP4B,upstream_gene_variant,,ENST00000448368,;	1146	116	97	SUCCESS
ATM	472	.	GRCh37	11	108206607	108206607	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs587781946	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	44	98	0	ENST00000278616.4:c.8187A>T	p.Gln2729His	p.Q2729H	ENST00000278616	NM_000051.3	2729	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS31669.1	8187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	ATGCAACAGGT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:3.30.1010.10,Pfam_domain:PF00454,PROSITE_patterns:PS00915,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS50290	.	.	ENSP00000278616	.	56/63	.	.	.	.	.	.	.	.	rs587781946	56/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Gln2729His,ENST00000452508,;ATM,missense_variant,p.Gln2729His,ENST00000278616,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000524755,;ATM,non_coding_transcript_exon_variant,,ENST00000533979,;C11orf65,downstream_gene_variant,,ENST00000526725,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000525056,;C11orf65,intron_variant,,ENST00000527531,;ATM,downstream_gene_variant,,ENST00000533690,;	8572	98	82	SUCCESS
USP28	57646	.	GRCh37	11	113683133	113683133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	77	0	ENST00000003302.4:c.1837T>A	p.Trp613Arg	p.W613R	ENST00000003302	NM_020886.2	613	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS31680.1	1837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGCTCT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF110,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000003302	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000003302	Transcript	.	.	ENSG00000048028	12625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP28_HUMAN	USP28	HGNC	Q96SV4_HUMAN	.	UPI0000137A00	SNV	USP28,missense_variant,p.Trp488Arg,ENST00000545540,;USP28,missense_variant,p.Trp321Arg,ENST00000544967,;USP28,missense_variant,p.Trp613Arg,ENST00000003302,;USP28,missense_variant,p.Trp613Arg,ENST00000260188,;USP28,missense_variant,p.Trp317Arg,ENST00000538475,;USP28,upstream_gene_variant,,ENST00000538224,;USP28,downstream_gene_variant,,ENST00000537706,;USP28,3_prime_UTR_variant,,ENST00000540438,;USP28,downstream_gene_variant,,ENST00000545608,;	1906	77	77	SUCCESS
CDON	50937	.	GRCh37	11	125848206	125848206	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	90	0	ENST00000392693.3:c.3349A>T	p.Asn1117Tyr	p.N1117Y	ENST00000392693	NM_001243597.1	1117	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS58192.1	3349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTTGTTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489	.	.	ENSP00000376458	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000392693	Transcript	.	.	ENSG00000064309	17104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CDON_HUMAN	CDON	HGNC	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN	.	UPI0000E0013A	SNV	CDON,missense_variant,p.Asn494Tyr,ENST00000531738,;CDON,missense_variant,p.Asn1117Tyr,ENST00000263577,;CDON,missense_variant,p.Asn1117Tyr,ENST00000392693,;	3477	90	84	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128843038	128843038	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	48	142	0	ENST00000310343.9:c.3321C>A	p.Phe1107Leu	p.F1107L	ENST00000310343	NM_001142685.1	1107	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS44769.1	3321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGAACTG	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9	.	.	ENSP00000310561	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,missense_variant,p.Phe758Leu,ENST00000527272,;ARHGAP32,missense_variant,p.Phe758Leu,ENST00000392657,;ARHGAP32,missense_variant,p.Phe1107Leu,ENST00000310343,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	3321	142	125	SUCCESS
SYT8	90019	.	GRCh37	11	1857147	1857147	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	117	0	ENST00000381968.3:c.332G>A	p.Ser111Asn	p.S111N	ENST00000381968	NM_138567.3	111	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS7726.2	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGCCCGG	NONE	.	.	hmmpanther:PTHR10024:SF36,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000371394	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000381968	Transcript	.	.	ENSG00000149043	19264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.32)	.	SYT8_HUMAN	SYT8	HGNC	C9K032_HUMAN,C9J253_HUMAN,A6NCR4_HUMAN	.	UPI000066D8CE	SNV	SYT8,missense_variant,p.Ser97Asn,ENST00000430303,;SYT8,missense_variant,p.Ser97Asn,ENST00000417052,;SYT8,missense_variant,p.Ser111Asn,ENST00000381968,;SYT8,missense_variant,p.Ser249Asn,ENST00000535046,;SYT8,missense_variant,p.Ser97Asn,ENST00000436964,;SYT8,missense_variant,p.Ser97Asn,ENST00000341958,;SYT8,missense_variant,p.Ser110Asn,ENST00000381978,;TNNI2,upstream_gene_variant,,ENST00000381911,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381905,;TNNI2,upstream_gene_variant,,ENST00000381906,;SYT8,non_coding_transcript_exon_variant,,ENST00000483280,;SYT8,missense_variant,p.Ala103Thr,ENST00000424556,;SYT8,non_coding_transcript_exon_variant,,ENST00000475245,;SYT8,non_coding_transcript_exon_variant,,ENST00000479276,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,non_coding_transcript_exon_variant,,ENST00000464897,;SYT8,non_coding_transcript_exon_variant,,ENST00000479089,;SYT8,upstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000482118,;TNNI2,upstream_gene_variant,,ENST00000468473,;	460	117	95	SUCCESS
RRM1	6240	.	GRCh37	11	4141136	4141136	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	116	0	ENST00000300738.5:c.854A>G	p.Tyr285Cys	p.Y285C	ENST00000300738	NM_001033.3	285	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7750.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGATATGTGG	NONE	.	.	Superfamily_domains:SSF51998,Gene3D:3.20.70.20,Pfam_domain:PF02867,TIGRFAM_domain:TIGR02506,hmmpanther:PTHR11573	.	.	ENSP00000300738	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000300738	Transcript	.	.	ENSG00000167325	10451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	RIR1_HUMAN	RRM1	HGNC	F5H861_HUMAN,E9PL69_HUMAN,E9PD78_HUMAN,B4DNN4_HUMAN	.	UPI0000000C7C	SNV	RRM1,missense_variant,p.Tyr188Cys,ENST00000423050,;RRM1,missense_variant,p.Tyr285Cys,ENST00000300738,;RRM1,missense_variant,p.Tyr63Cys,ENST00000534285,;RRM1,5_prime_UTR_variant,,ENST00000537197,;RRM1,non_coding_transcript_exon_variant,,ENST00000528470,;RRM1,non_coding_transcript_exon_variant,,ENST00000526304,;RRM1,missense_variant,p.Tyr63Cys,ENST00000533495,;RRM1,missense_variant,p.Tyr98Cys,ENST00000528442,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,;RRM1,upstream_gene_variant,,ENST00000529109,;RRM1,upstream_gene_variant,,ENST00000531591,;	1058	116	90	SUCCESS
CTNND1	1500	.	GRCh37	11	57575697	57575697	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	37	84	0	ENST00000399050.4:c.2024G>A	p.Ser675Asn	p.S675N	ENST00000399050	NM_001085458.1	675	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS44604.1	2024	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGCAAGA	NONE	.	.	hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000382004	.	13/21	.	.	.	.	.	.	.	.	COSM928722,COSM1585849	13/21	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.756)	.	deleterious(0.01)	1,1	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,missense_variant,p.Ser669Asn,ENST00000361796,;CTNND1,missense_variant,p.Ser568Asn,ENST00000532787,;CTNND1,missense_variant,p.Ser615Asn,ENST00000526357,;CTNND1,missense_variant,p.Ser669Asn,ENST00000428599,;CTNND1,missense_variant,p.Ser346Asn,ENST00000533667,;CTNND1,missense_variant,p.Ser615Asn,ENST00000532649,;CTNND1,missense_variant,p.Ser574Asn,ENST00000528232,;CTNND1,missense_variant,p.Ser675Asn,ENST00000529919,;CTNND1,missense_variant,p.Ser615Asn,ENST00000529873,;CTNND1,missense_variant,p.Ser621Asn,ENST00000532844,;CTNND1,missense_variant,p.Ser346Asn,ENST00000531014,;CTNND1,missense_variant,p.Ser568Asn,ENST00000532463,;CTNND1,missense_variant,p.Ser574Asn,ENST00000415361,;CTNND1,missense_variant,p.Ser568Asn,ENST00000530094,;CTNND1,missense_variant,p.Ser568Asn,ENST00000529986,;CTNND1,missense_variant,p.Ser352Asn,ENST00000527467,;CTNND1,missense_variant,p.Ser568Asn,ENST00000532245,;CTNND1,missense_variant,p.Ser621Asn,ENST00000530748,;CTNND1,missense_variant,p.Ser615Asn,ENST00000528621,;CTNND1,missense_variant,p.Ser669Asn,ENST00000361391,;CTNND1,missense_variant,p.Ser675Asn,ENST00000399050,;CTNND1,missense_variant,p.Ser615Asn,ENST00000534579,;CTNND1,missense_variant,p.Ser675Asn,ENST00000526938,;CTNND1,missense_variant,p.Ser615Asn,ENST00000529526,;CTNND1,missense_variant,p.Ser675Asn,ENST00000399039,;CTNND1,missense_variant,p.Ser675Asn,ENST00000360682,;CTNND1,missense_variant,p.Ser669Asn,ENST00000524630,;CTNND1,missense_variant,p.Ser669Asn,ENST00000358694,;CTNND1,missense_variant,p.Ser568Asn,ENST00000426142,;CTNND1,missense_variant,p.Ser346Asn,ENST00000526772,;CTNND1,missense_variant,p.Ser669Asn,ENST00000361332,;CTNND1,missense_variant,p.Ser352Asn,ENST00000525902,;CTNND1,upstream_gene_variant,,ENST00000531007,;CTNND1,non_coding_transcript_exon_variant,,ENST00000530720,;CTNND1,downstream_gene_variant,,ENST00000527599,;	2560	84	86	SUCCESS
OR56A3	390083	.	GRCh37	11	5968733	5968733	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768582191	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	138	0	ENST00000329564.6:c.157A>G	p.Ile53Val	p.I53V	ENST00000329564	NM_001003443.2	53	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41614.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCATCTGG	NONE	byFrequency	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF40,hmmpanther:PTHR26450,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000331572	.	1/1	.	.	.	.	.	.	.	.	rs768582191	1/1	PASS	ENST00000329564	Transcript	.	.	ENSG00000184478	14786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.24)	.	O56A3_HUMAN	OR56A3	HGNC	.	.	UPI0000041BF7	SNV	OR56A3,missense_variant,p.Ile53Val,ENST00000329564,;AC025016.1,downstream_gene_variant,,ENST00000528915,;	164	138	112	SUCCESS
CTSW	1521	.	GRCh37	11	65650839	65650839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781782286	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	97	0	ENST00000307886.3:c.964C>T	p.His322Tyr	p.H322Y	ENST00000307886	NM_001335.3	322	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS8117.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACACCCC	NONE	.	.	hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF269,Gene3D:3.90.70.10,Pfam_domain:PF00112,SMART_domains:SM00645,Superfamily_domains:SSF54001	.	.	ENSP00000311300	.	9/10	.	.	.	.	.	.	.	.	rs781782286	9/10	PASS	ENST00000307886	Transcript	.	.	ENSG00000172543	2546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.09)	.	CATW_HUMAN	CTSW	HGNC	.	.	UPI000013EC6C	SNV	CTSW,missense_variant,p.His322Tyr,ENST00000307886,;CTSW,missense_variant,p.His322Tyr,ENST00000528419,;CTSW,downstream_gene_variant,,ENST00000526034,;FIBP,downstream_gene_variant,,ENST00000357519,;FIBP,downstream_gene_variant,,ENST00000338369,;FIBP,downstream_gene_variant,,ENST00000533045,;FIBP,downstream_gene_variant,,ENST00000426652,;FIBP,downstream_gene_variant,,ENST00000532229,;FIBP,downstream_gene_variant,,ENST00000532679,;FIBP,downstream_gene_variant,,ENST00000528937,;FIBP,downstream_gene_variant,,ENST00000525765,;FIBP,downstream_gene_variant,,ENST00000533037,;FIBP,downstream_gene_variant,,ENST00000534032,;CTSW,downstream_gene_variant,,ENST00000524681,;FIBP,downstream_gene_variant,,ENST00000532934,;FIBP,downstream_gene_variant,,ENST00000442885,;FIBP,downstream_gene_variant,,ENST00000531115,;	1010	97	83	SUCCESS
CUX2	23316	.	GRCh37	12	111729223	111729223	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	73	0	ENST00000261726.6:c.306del	p.Val103CysfsTer10	p.V103Cfs*10	ENST00000261726	NM_015267.3	101	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS41837.1	303	INDELOCATOR*|VARSCANI*|PINDEL	.	CACAGACCCCGT	NONE	.	.	hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	deletion	CUX2,frameshift_variant,p.Val163CysfsTer10,ENST00000397643,;CUX2,frameshift_variant,p.Val103CysfsTer10,ENST00000261726,;	457	73	127	SUCCESS
DNAH10	196385	.	GRCh37	12	124303730	124303730	+	synonymous_variant	Silent	SNP	G	G	A	rs748806736	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	42	200	0	ENST00000409039.3:c.3579G>A	p.Gln1193=	p.Q1193=	ENST00000409039	NM_207437.3	1193	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS9255.2	3579	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGATAGA	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	22/78	.	.	.	.	.	.	.	.	rs748806736	22/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;DNAH10,downstream_gene_variant,,ENST00000467219,;	3604	200	263	SUCCESS
PDE3A	5139	.	GRCh37	12	20806880	20806880	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	89	0	ENST00000359062.3:c.2926-1G>A		p.X976_splice	ENST00000359062	NM_001244683.1	976		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31754.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGGGTGA	NONE	.	.	.	.	.	ENSP00000351957	.	.	.	.	.	.	.	.	.	.	COSM692882	.	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	HIGH	14/15	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,splice_acceptor_variant,,ENST00000359062,;PDE3A,splice_acceptor_variant,,ENST00000544307,;	.	89	59	SUCCESS
FGD4	121512	.	GRCh37	12	32777980	32777980	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	90	243	1	ENST00000427716.2:c.1613A>G	p.Asn538Ser	p.N538S	ENST00000427716	NM_139241.2	538	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8727.1	1613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATAATGACA	NONE	.	.	hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673,Superfamily_domains:SSF50729	.	.	ENSP00000394487	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000427716	Transcript	.	.	ENSG00000139132	19125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.38)	.	FGD4_HUMAN	FGD4	HGNC	J3KSS3_HUMAN,F8W1R0_HUMAN	.	UPI000004CCA6	SNV	FGD4,missense_variant,p.Asn445Ser,ENST00000546442,;FGD4,missense_variant,p.Asn623Ser,ENST00000531134,;FGD4,missense_variant,p.Asn538Ser,ENST00000427716,;FGD4,missense_variant,p.Asn650Ser,ENST00000525053,;FGD4,missense_variant,p.Asn290Ser,ENST00000266482,;FGD4,missense_variant,p.Asn675Ser,ENST00000534526,;FGD4,downstream_gene_variant,,ENST00000381025,;FGD4,3_prime_UTR_variant,,ENST00000494977,;FGD4,3_prime_UTR_variant,,ENST00000395740,;FGD4,3_prime_UTR_variant,,ENST00000493087,;FGD4,3_prime_UTR_variant,,ENST00000551984,;	2037	244	229	SUCCESS
ARID2	196528	.	GRCh37	12	46230722	46230722	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	8	116	0	ENST00000334344.6:c.971T>G	p.Phe324Cys	p.F324C	ENST00000334344	NM_152641.2	324	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS31783.1	971	MUTECT|MUSE	.	TCATTTTATTT	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Superfamily_domains:SSF48371	.	.	ENSP00000335044	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.963)	.	tolerated(0.07)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Phe324Cys,ENST00000334344,;ARID2,missense_variant,p.Phe175Cys,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000444670,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000480128,;	1143	116	112	SUCCESS
COL2A1	1280	.	GRCh37	12	48378844	48378844	+	synonymous_variant	Silent	SNP	A	A	T	rs761503045	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	40	156	0	ENST00000380518.3:c.1767T>A	p.Pro589=	p.P589=	ENST00000380518	NM_033150.2	589	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41778.1	1767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58	.	.	ENSP00000369889	.	27/54	.	.	.	.	.	.	.	.	rs761503045	27/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,synonymous_variant,p.%3D,ENST00000380518,;COL2A1,synonymous_variant,p.%3D,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,upstream_gene_variant,,ENST00000483376,;	1932	156	165	SUCCESS
KMT2D	8085	.	GRCh37	12	49446022	49446022	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1324469851	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	46	126	0	ENST00000301067.7:c.1444G>A	p.Ala482Thr	p.A482T	ENST00000301067	NM_003482.3	482	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44873.1	1444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCCTCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000301067	.	10/54	.	.	.	.	.	.	.	.	COSM4150133,COSM4150132	10/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	.	1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Ala482Thr,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000547610,;	1444	126	139	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72050734	72050734	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs561382640	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	59	108	0	ENST00000378743.3:c.946C>T	p.Arg316Cys	p.R316C	ENST00000378743	NM_144982.4	316	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS41813.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACGGTTCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21563	.	.	ENSP00000368017	.	2/35	.	.	.	.	.	.	.	.	rs561382640	2/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	deleterious(0)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.Arg316Cys,ENST00000548100,;ZFC3H1,missense_variant,p.Arg316Cys,ENST00000552037,;ZFC3H1,missense_variant,p.Arg316Cys,ENST00000378743,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000549407,;ZFC3H1,intron_variant,,ENST00000550712,;ZFC3H1,missense_variant,p.Arg316Cys,ENST00000552994,;	1305	108	118	SUCCESS
PTPRQ	374462	.	GRCh37	12	80933612	80933612	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	282	77	277	0	ENST00000266688.5:c.3031A>T	p.Ile1011Leu	p.I1011L	ENST00000266688		1011	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	.	3031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTATAGAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	25/50	.	.	.	.	.	.	.	.	.	25/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.86)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Ile1011Leu,ENST00000266688,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000547485,;PTPRQ,upstream_gene_variant,,ENST00000551624,;	3031	278	359	SUCCESS
EFNB2	1948	.	GRCh37	13	107147231	107147231	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	64	0	ENST00000245323.4:c.611C>T	p.Pro204Leu	p.P204L	ENST00000245323	NM_004093.3	204	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9507.1	611	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGGATTT	NONE	.	.	hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304	.	.	ENSP00000245323	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(0.37)	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,missense_variant,p.Pro204Leu,ENST00000245323,;	761	64	73	SUCCESS
SOHLH2	54937	.	GRCh37	13	36747903	36747903	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	89	0	ENST00000379881.3:c.926A>T	p.Gln309Leu	p.Q309L	ENST00000379881	NM_017826.2	309	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS55896.1	1157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATTGGAGC	NONE	.	.	hmmpanther:PTHR16223:SF16,hmmpanther:PTHR16223	.	.	ENSP00000451542	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000554962	Transcript	.	.	ENSG00000120669	26026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0.03)	.	SOLH2_HUMAN	SOHLH2	HGNC	.	.	UPI00017A803A	SNV	SOHLH2,missense_variant,p.Gln309Leu,ENST00000379881,;CCDC169-SOHLH2,missense_variant,p.Gln386Leu,ENST00000511166,;SOHLH2,missense_variant,p.Gln386Leu,ENST00000554962,;	1459	89	80	SUCCESS
AKAP11	11215	.	GRCh37	13	42876689	42876689	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	49	147	0	ENST00000025301.2:c.3807A>T	p.Thr1269=	p.T1269=	ENST00000025301	NM_016248.3	1269	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9383.1	3807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACAGAAGC	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,synonymous_variant,p.%3D,ENST00000025301,;	3982	147	154	SUCCESS
MYH6	4624	.	GRCh37	14	23858666	23858666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	126	0	ENST00000356287.3:c.3914G>T	p.Arg1305Leu	p.R1305L	ENST00000356287		1305	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS9600.1	3914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCGGGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000386041	.	28/39	.	.	.	.	.	.	.	.	.	28/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.622)	.	deleterious(0)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Arg1305Leu,ENST00000405093,;MYH6,missense_variant,p.Arg1305Leu,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	3985	126	100	SUCCESS
SYNE2	23224	.	GRCh37	14	64676274	64676274	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	73	0	ENST00000344113.4:c.18518A>G	p.Lys6173Arg	p.K6173R	ENST00000344113	NM_015180.4	6173	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9761.2	18518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAAGAGG	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	102/116	.	.	.	.	.	.	.	.	.	102/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.686)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Lys6135Arg,ENST00000554584,;SYNE2,missense_variant,p.Lys2558Arg,ENST00000394768,;SYNE2,missense_variant,p.Lys6173Arg,ENST00000344113,;SYNE2,missense_variant,p.Lys6173Arg,ENST00000358025,;SYNE2,missense_variant,p.Lys51Arg,ENST00000555022,;SYNE2,missense_variant,p.Lys2558Arg,ENST00000357395,;SYNE2,missense_variant,p.Lys143Arg,ENST00000556906,;SYNE2,missense_variant,p.Lys2807Arg,ENST00000555002,;SYNE2,5_prime_UTR_variant,,ENST00000554805,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,upstream_gene_variant,,ENST00000458046,;SYNE2,downstream_gene_variant,,ENST00000553801,;SYNE2,downstream_gene_variant,,ENST00000555241,;SYNE2,3_prime_UTR_variant,,ENST00000555612,;SYNE2,3_prime_UTR_variant,,ENST00000553289,;SYNE2,non_coding_transcript_exon_variant,,ENST00000553806,;SYNE2,upstream_gene_variant,,ENST00000554997,;SYNE2,upstream_gene_variant,,ENST00000557307,;SYNE2,upstream_gene_variant,,ENST00000557084,;	18748	73	71	SUCCESS
GSC	145258	.	GRCh37	14	95236232	95236232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	13	0	ENST00000238558.3:c.121G>A	p.Asp41Asn	p.D41N	ENST00000238558	NM_173849.2	41	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9930.1	121	MUTECT|MUSE	.	CGAGTCCCCGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF275	.	.	ENSP00000238558	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000238558	Transcript	1	.	ENSG00000133937	4612	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.136)	.	tolerated_low_confidence(0.11)	.	GSC_HUMAN	GSC	HGNC	.	.	UPI000000D86A	SNV	GSC,missense_variant,p.Asp41Asn,ENST00000238558,;	331	13	12	SUCCESS
NIPA1	123606	.	GRCh37	15	23086286	23086286	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748012969	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	316	177	437	0	ENST00000337435.4:c.126C>A	p.Asn42Lys	p.N42K	ENST00000337435	NM_144599.4	42	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS10011.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGTTCAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF17,Pfam_domain:PF05653	.	.	ENSP00000337452	.	1/5	.	.	.	.	.	.	.	.	rs748012969	1/5	PASS	ENST00000337435	Transcript	1	.	ENSG00000170113	17043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.02)	.	NIPA1_HUMAN	NIPA1	HGNC	Q3SYP4_HUMAN	.	UPI00001D9756	SNV	NIPA1,missense_variant,p.Asn42Lys,ENST00000337435,;NIPA1,5_prime_UTR_variant,,ENST00000538684,;NIPA1,intron_variant,,ENST00000561183,;NIPA1,intron_variant,,ENST00000437912,;NIPA1,missense_variant,p.Asn6Lys,ENST00000559448,;NIPA1,non_coding_transcript_exon_variant,,ENST00000560105,;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;	151	438	494	SUCCESS
FGF7	2252	.	GRCh37	15	49716642	49716642	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	45	144	0	ENST00000267843.4:c.148G>T	p.Glu50Ter	p.E50*	ENST00000267843	NM_002009.3	50	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10131.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGAGCGA	NONE	.	.	hmmpanther:PTHR11486:SF20,hmmpanther:PTHR11486	.	.	ENSP00000267843	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000267843	Transcript	.	.	ENSG00000140285	3685	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF7_HUMAN	FGF7	HGNC	Q6FGV5_HUMAN,H0YNE7_HUMAN	.	UPI0000040660	SNV	FGF7,stop_gained,p.Glu50Ter,ENST00000560270,;FGF7,stop_gained,p.Glu50Ter,ENST00000267843,;FGF7,5_prime_UTR_variant,,ENST00000560979,;FAM227B,intron_variant,,ENST00000561064,;FAM227B,intron_variant,,ENST00000299338,;FGF7,stop_gained,p.Glu50Ter,ENST00000560765,;	759	144	150	SUCCESS
CACNA1H	8912	.	GRCh37	16	1269083	1269083	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763114755	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	113	0	ENST00000348261.5:c.6001C>T	p.Arg2001Trp	p.R2001W	ENST00000348261	NM_021098.2	2001	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS45375.1	6001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	34/35	.	.	.	.	.	.	.	.	rs763114755	34/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	tolerated(0.06)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.Arg726Trp,ENST00000562079,;CACNA1H,missense_variant,p.Arg2001Trp,ENST00000348261,;CACNA1H,missense_variant,p.Arg732Trp,ENST00000564231,;CACNA1H,missense_variant,p.Arg1995Trp,ENST00000565831,;CACNA1H,missense_variant,p.Arg1995Trp,ENST00000358590,;CACNA1H,missense_variant,p.Arg545Trp,ENST00000564927,;CACNA1H,missense_variant,p.Arg748Trp,ENST00000569107,;TPSG1,downstream_gene_variant,,ENST00000234798,;TPSG1,downstream_gene_variant,,ENST00000564684,;	6249	113	121	SUCCESS
RNF151	146310	.	GRCh37	16	2018778	2018778	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376750121	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	55	122	0	ENST00000569714.1:c.590G>T	p.Arg197Leu	p.R197L	ENST00000569714	NM_174903.4	197	cGt/cTt	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS58405.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCGTAGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15315,hmmpanther:PTHR15315:SF1,Superfamily_domains:SSF49599	.	A:0	ENSP00000456566	.	4/4	.	.	.	.	.	.	.	.	rs376750121	4/4	PASS	ENST00000569714	Transcript	.	.	ENSG00000179580	23235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.422)	.	deleterious(0.01)	.	RN151_HUMAN	RNF151	HGNC	.	.	UPI00001FFB20	SNV	RNF151,missense_variant,p.Arg196Leu,ENST00000321392,;RNF151,missense_variant,p.Arg197Leu,ENST00000569714,;RNF151,3_prime_UTR_variant,,ENST00000569210,;RPS2,upstream_gene_variant,,ENST00000533186,;RPS2,upstream_gene_variant,,ENST00000526522,;RPS2,upstream_gene_variant,,ENST00000563194,;RPS2,upstream_gene_variant,,ENST00000530225,;RPS2,upstream_gene_variant,,ENST00000527302,;TBL3,upstream_gene_variant,,ENST00000568546,;RPS2,upstream_gene_variant,,ENST00000343262,;RPS2,upstream_gene_variant,,ENST00000529806,;SNHG9,downstream_gene_variant,,ENST00000564014,;SNHG9,downstream_gene_variant,,ENST00000459373,;SNHG9,downstream_gene_variant,,ENST00000531523,;RPS2,upstream_gene_variant,,ENST00000526908,;RPS2,upstream_gene_variant,,ENST00000532746,;TBL3,upstream_gene_variant,,ENST00000561907,;RPS2,upstream_gene_variant,,ENST00000527826,;RPS2,upstream_gene_variant,,ENST00000527109,;RPS2,upstream_gene_variant,,ENST00000531065,;TBL3,upstream_gene_variant,,ENST00000569628,;RPS2,upstream_gene_variant,,ENST00000534461,;RPS2,upstream_gene_variant,,ENST00000527871,;RPS2,upstream_gene_variant,,ENST00000533872,;RPS2,upstream_gene_variant,,ENST00000533161,;AC005363.9,upstream_gene_variant,,ENST00000530779,;	598	122	146	SUCCESS
SCNN1G	6340	.	GRCh37	16	23203678	23203678	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	70	0	ENST00000300061.2:c.624A>C	p.Ser208=	p.S208=	ENST00000300061	NM_001039.3	208	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS10608.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCAAATGA	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	.	.	ENSP00000300061	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,synonymous_variant,p.%3D,ENST00000300061,;CTC-391G2.1,downstream_gene_variant,,ENST00000563471,;	767	70	70	SUCCESS
TNRC6A	27327	.	GRCh37	16	24834981	24834981	+	synonymous_variant	Silent	SNP	C	C	T	rs373265827	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	39	132	0	ENST00000395799.3:c.5742C>T	p.His1914=	p.H1914=	ENST00000395799	NM_014494.2	1914	caC/caT	0	T:0.0002	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS10624.2	5742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACGGCAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	T:0	T:0	ENSP00000379144	T:0.001	25/25	.	.	.	.	.	.	.	.	rs373265827	25/25	PASS	ENST00000395799	Transcript	.	T:0.0004	ENSG00000090905	11969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,synonymous_variant,p.%3D,ENST00000395799,;TNRC6A,synonymous_variant,p.%3D,ENST00000315183,;TNRC6A,synonymous_variant,p.%3D,ENST00000450465,;TNRC6A,synonymous_variant,p.%3D,ENST00000432286,;TNRC6A,intron_variant,,ENST00000569098,;CTD-2515A14.1,upstream_gene_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000464539,;TNRC6A,downstream_gene_variant,,ENST00000569634,;TNRC6A,downstream_gene_variant,,ENST00000569376,;	5871	132	119	SUCCESS
SALL1	6299	.	GRCh37	16	51172810	51172810	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	131	0	ENST00000251020.4:c.3323T>A	p.Val1108Asp	p.V1108D	ENST00000251020	NM_002968.2	1108	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS10747.1	3323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGACGTGA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	deleterious(0.02)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Val1108Asp,ENST00000251020,;SALL1,missense_variant,p.Val1011Asp,ENST00000570206,;SALL1,missense_variant,p.Val1011Asp,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	3357	131	109	SUCCESS
PKD1L2	114780	.	GRCh37	16	81208430	81208430	+	synonymous_variant	Silent	SNP	G	G	A	rs1162788802	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	63	0	ENST00000527937.1:c.441C>T	p.Gly147=	p.G147=	ENST00000527937		147	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	.	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGGCCACC	NONE	.	.	PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF108,Superfamily_domains:SSF49348	.	.	ENSP00000432818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527937	Transcript	.	.	ENSG00000166473	21715	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK1L2_HUMAN	PKD1L2	HGNC	.	.	UPI00001C0DE3	SNV	PKD1L2,synonymous_variant,p.%3D,ENST00000531391,;PKD1L2,synonymous_variant,p.%3D,ENST00000526632,;PKD1L2,synonymous_variant,p.%3D,ENST00000527937,;PKD1L2,synonymous_variant,p.%3D,ENST00000337114,;PKD1L2,downstream_gene_variant,,ENST00000529791,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,synonymous_variant,p.%3D,ENST00000525539,;PKD1L2,synonymous_variant,p.%3D,ENST00000533478,;	555	63	53	SUCCESS
FOXL1	2300	.	GRCh37	16	86612573	86612573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	97	237	0	ENST00000320241.3:c.244C>A	p.Arg82Ser	p.R82S	ENST00000320241	NM_005250.2	82	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS10959.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACCGCTTC	NONE	.	.	Prints_domain:PR00053,Superfamily_domains:SSF46785,SMART_domains:SM00339,Pfam_domain:PF00250,Gene3D:1.10.10.10,hmmpanther:PTHR11829:SF52,hmmpanther:PTHR11829,PROSITE_profiles:PS50039	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0.01)	.	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,missense_variant,p.Arg82Ser,ENST00000593625,;FOXL1,missense_variant,p.Arg82Ser,ENST00000320241,;	459	237	229	SUCCESS
ANKRD11	29123	.	GRCh37	16	89350828	89350828	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	101	0	ENST00000301030.4:c.2122A>G	p.Lys708Glu	p.K708E	ENST00000301030	NM_001256183.1	708	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32513.1	2122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Lys708Glu,ENST00000378330,;ANKRD11,missense_variant,p.Lys708Glu,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	2583	101	113	SUCCESS
MYH4	4622	.	GRCh37	17	10358067	10358067	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs759840408	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	40	121	0	ENST00000255381.2:c.2496del	p.Trp833GlyfsTer2	p.W833Gfs*2	ENST00000255381	NM_017533.2	832	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS11154.1	2496	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCCAGGGCCA	NONE	.	.	hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Gene3D:1wdcA00,Superfamily_domains:SSF52540	.	.	ENSP00000255381	.	22/40	.	.	.	.	.	.	.	.	rs759840408	22/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	deletion	MYH4,frameshift_variant,p.Trp833GlyfsTer2,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2607	121	114	SUCCESS
TBC1D3P5	440419	.	GRCh37	17	25748907	25748907	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	8	0	ENST00000586223.1:n.808C>G		p.*270*	ENST00000586223				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	CATCACCTTGC	NONE	.	.	.	.	.	.	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000586223	Transcript	.	.	ENSG00000266433	43567	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TBC1D3P5	HGNC	.	.	.	SNV	TBC1D3P5,non_coding_transcript_exon_variant,,ENST00000586223,;TBC1D3P5,intron_variant,,ENST00000581469,;TBC1D3P5,intron_variant,,ENST00000579401,;	808	8	12	SUCCESS
SPAG5	10615	.	GRCh37	17	26919151	26919151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	61	229	0	ENST00000321765.5:c.1111G>T	p.Asp371Tyr	p.D371Y	ENST00000321765	NM_006461.3	371	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS32594.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCCCGAA	NONE	.	.	hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0	.	.	ENSP00000323300	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000321765	Transcript	.	.	ENSG00000076382	13452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	SPAG5_HUMAN	SPAG5	HGNC	.	.	UPI0000073414	SNV	SPAG5,missense_variant,p.Asp371Tyr,ENST00000321765,;RP11-192H23.4,intron_variant,,ENST00000531839,;SPAG5,downstream_gene_variant,,ENST00000536674,;SPAG5,upstream_gene_variant,,ENST00000584206,;SPAG5,3_prime_UTR_variant,,ENST00000578479,;SPAG5,3_prime_UTR_variant,,ENST00000580567,;RP11-192H23.4,intron_variant,,ENST00000481916,;	1444	229	246	SUCCESS
SMARCE1	6605	.	GRCh37	17	38801862	38801862	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	81	220	0	ENST00000348513.6:c.17C>T	p.Ser6Phe	p.S6F	ENST00000348513	NM_003079.4	6	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS11370.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAGATGGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000323967	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000348513	Transcript	.	.	ENSG00000073584	11109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	deleterious_low_confidence(0)	.	SMCE1_HUMAN	SMARCE1	HGNC	J3QR61_HUMAN,J3QKX6_HUMAN,J3KT85_HUMAN,C0IMW8_HUMAN,B4DGM3_HUMAN	.	UPI000006FB55	SNV	SMARCE1,missense_variant,p.Ser6Phe,ENST00000582955,;SMARCE1,missense_variant,p.Ser6Phe,ENST00000377808,;SMARCE1,missense_variant,p.Ser6Phe,ENST00000580419,;SMARCE1,missense_variant,p.Ser6Phe,ENST00000348513,;SMARCE1,missense_variant,p.Ser6Phe,ENST00000474246,;SMARCE1,5_prime_UTR_variant,,ENST00000478349,;SMARCE1,5_prime_UTR_variant,,ENST00000580654,;SMARCE1,5_prime_UTR_variant,,ENST00000577721,;SMARCE1,intron_variant,,ENST00000544009,;SMARCE1,intron_variant,,ENST00000431889,;SMARCE1,intron_variant,,ENST00000400122,;SMARCE1,intron_variant,,ENST00000578044,;SMARCE1,missense_variant,p.Ser6Phe,ENST00000481231,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000469334,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000493660,;KRT222,intron_variant,,ENST00000476049,;SMARCE1,intron_variant,,ENST00000578112,;	798	221	139	SUCCESS
KRT39	390792	.	GRCh37	17	39118496	39118496	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	67	0	ENST00000355612.2:c.914A>T	p.Gln305Leu	p.Q305L	ENST00000355612	NM_213656.3	305	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11382.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTGCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000347823	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000355612	Transcript	.	.	ENSG00000196859	32971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(1)	.	K1C39_HUMAN	KRT39	HGNC	J3QRE9_HUMAN	.	UPI0000237913	SNV	KRT39,missense_variant,p.Gln305Leu,ENST00000355612,;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,upstream_gene_variant,,ENST00000578029,;	950	67	36	SUCCESS
CRHR1	1394	.	GRCh37	17	43893892	43893892	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	32	73	0	ENST00000398285.3:c.185A>T	p.Gln62Leu	p.Q62L	ENST00000398285	NM_001145146.1	62	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45712.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGCTAG	NONE	.	.	Prints_domain:PR01279,Superfamily_domains:SSF111418,SMART_domains:SM00008,Pfam_domain:PF02793,PROSITE_patterns:PS00649,hmmpanther:PTHR12011:SF175,hmmpanther:PTHR12011,PROSITE_profiles:PS50227	.	.	ENSP00000381333	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.31)	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,missense_variant,p.Gln62Leu,ENST00000398285,;CRHR1,missense_variant,p.Gln62Leu,ENST00000577353,;CRHR1,missense_variant,p.Gln62Leu,ENST00000314537,;CRHR1,5_prime_UTR_variant,,ENST00000293493,;CRHR1,5_prime_UTR_variant,,ENST00000339069,;CRHR1,intron_variant,,ENST00000352855,;RP11-105N13.4,non_coding_transcript_exon_variant,,ENST00000582044,;RP11-105N13.4,downstream_gene_variant,,ENST00000587305,;CRHR1,missense_variant,p.Gln30Leu,ENST00000580955,;CRHR1,missense_variant,p.Gln62Leu,ENST00000347197,;CRHR1,intron_variant,,ENST00000582766,;CRHR1,upstream_gene_variant,,ENST00000583888,;	185	73	45	SUCCESS
CEP95	90799	.	GRCh37	17	62532722	62532722	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs990061896	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	275	155	423	0	ENST00000556440.2:c.2073A>G	p.Ile691Met	p.I691M	ENST00000556440	NM_138363.1	691	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS45763.1	2073	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATTTAA	NONE	.	.	hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545	.	.	ENSP00000450461	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000556440	Transcript	.	.	ENSG00000258890	25141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	tolerated(0.21)	.	CEP95_HUMAN	CEP95	HGNC	K7ENV0_HUMAN,B4DMD2_HUMAN	.	UPI000006F4B3	SNV	CEP95,start_lost,p.Ile1?,ENST00000583676,;CEP95,missense_variant,p.Ile691Met,ENST00000556440,;CEP95,missense_variant,p.Ile527Met,ENST00000553412,;CEP95,downstream_gene_variant,,ENST00000583457,;CEP95,downstream_gene_variant,,ENST00000577476,;CEP95,splice_region_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000580285,;CEP95,non_coding_transcript_exon_variant,,ENST00000581885,;CEP95,downstream_gene_variant,,ENST00000584857,;CEP95,downstream_gene_variant,,ENST00000579637,;CEP95,downstream_gene_variant,,ENST00000582698,;CEP95,upstream_gene_variant,,ENST00000581980,;	2583	423	430	SUCCESS
TP53	7157	.	GRCh37	17	7579521	7579521	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	128	0	ENST00000269305.4:c.166del	p.Glu56LysfsTer67	p.E56Kfs*67	ENST00000269305	NM_001126112.2	56	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS11118.1	166	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCTTCAGTGA	CODON|p.0?|c.1_1182del1182|6,BUFFER|p.G59fs*23|c.175_374del200|3,BUFFER|p.E56K|c.166G>A|3,BUFFER|p.E56*|c.166G>T|6,BUFFER|p.W53*|c.159G>A|4,BUFFER|p.W53*|c.159G>A|11,BUFFER|p.W53*|c.159G>A|5,BUFFER|p.W53*|c.159G>A|5,BUFFER|p.W53*|c.159G>A|4,BUFFER|p.W53*|c.158G>A|6	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	TP53_g.11397G>T,TP53_g.11397G>A,TP53_g.11397del,COSM12168,COSM44636,COSM87523,COSM126989,COSM126990	4/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,0,1,1,1,1,1	.	.	.	.	.	0,0,0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000508793,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000413465,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000604348,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000420246,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000269305,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000359597,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000445888,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000503591,;TP53,frameshift_variant,p.Glu56LysfsTer67,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	356	128	101	SUCCESS
ZNF519	162655	.	GRCh37	18	14105451	14105454	+	frameshift_variant	Frame_Shift_Del	DEL	AGGT	AGGT	-	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	AGGT	AGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	61	0	ENST00000590202.1:c.1085_1088del	p.Tyr362LeufsTer174	p.Y362Lfs*174	ENST00000590202	NM_145287.3	362	tACCTt/tt	0	.	.	.	.	.	-	YL/X	protein_coding	YES	CCDS32797.1	1085-1088	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGTAAGGTATGAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF97,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000464872	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000590202	Transcript	.	.	ENSG00000175322	30574	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN519_HUMAN	ZNF519	HGNC	.	.	UPI0000201A41	deletion	ZNF519,frameshift_variant,p.Tyr362LeufsTer174,ENST00000590202,;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,intron_variant,,ENST00000587419,;	1238-1241	61	50	SUCCESS
CTAGE1	64693	.	GRCh37	18	19996396	19996396	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200291990	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	42	119	1	ENST00000391403.2:c.1379T>C	p.Ile460Thr	p.I460T	ENST00000391403	NM_172241.2	460	aTa/aCa	0	G:0	G:0	.	G:0.0014	.	G	I/T	protein_coding	YES	CCDS45837.1	1379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTATTTCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF41	G:0	G:0.0005	ENSP00000375220	G:0.003	1/1	.	.	.	.	.	.	.	.	rs200291990	1/1	common_in_exac	ENST00000391403	Transcript	.	G:0.0008	ENSG00000212710	24346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	G:0	tolerated(1)	.	CTGE2_HUMAN	CTAGE1	HGNC	Q8NEG8_HUMAN	.	UPI00000721F4	SNV	CTAGE1,missense_variant,p.Ile460Thr,ENST00000391403,;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;	1483	120	99	SUCCESS
SMCHD1	23347	.	GRCh37	18	2772286	2772286	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	104	0	ENST00000320876.6:c.5091A>T	p.Ser1697=	p.S1697=	ENST00000320876	NM_015295.2	1697	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45822.1	5091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCAGAACA	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640,Superfamily_domains:0038317	.	.	ENSP00000326603	.	41/48	.	.	.	.	.	.	.	.	.	41/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,synonymous_variant,p.%3D,ENST00000320876,;SMCHD1,synonymous_variant,p.%3D,ENST00000261598,;snoU13,upstream_gene_variant,,ENST00000459147,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,synonymous_variant,p.%3D,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,downstream_gene_variant,,ENST00000583344,;	5429	104	92	SUCCESS
COL5A3	50509	.	GRCh37	19	10087234	10087234	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs146470482	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	27	0	ENST00000264828.3:c.3342G>A		p.X1114_splice	ENST00000264828	NM_015719.3	1114	ccG/ccA	0	G:0.0027	G:0.0061	.	G:0.0014	.	T	P	protein_coding	YES	CCDS12222.1	3342	RADIA|MUTECT|MUSE	.	CTCACCGGGGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	G:0	G:0	ENSP00000264828	G:0	45/67	.	.	.	.	.	.	.	.	rs146470482,COSM1480495	45/67	PASS	ENST00000264828	Transcript	.	G:0.0018	ENSG00000080573	14864	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	G:0	.	0,1	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,synonymous_variant,p.%3D,ENST00000264828,;	3428	27	54	SUCCESS
ZNF44	51710	.	GRCh37	19	12405592	12405592	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	56	0	ENST00000356109.5:c.-83G>A		p.*28*	ENST00000356109	NM_001164276.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54223.1	.	RADIA|MUTECT|MUSE	.	GATGTCCCAGG	NONE	.	.	.	.	.	ENSP00000348419	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000356109	Transcript	.	.	ENSG00000197857	13110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF44_HUMAN	ZNF44	HGNC	Q6LDH8_HUMAN,O14858_HUMAN	.	UPI00017A7462	SNV	ZNF44,5_prime_UTR_variant,,ENST00000356109,;ZNF44,5_prime_UTR_variant,,ENST00000355684,;ZNF44,5_prime_UTR_variant,,ENST00000354656,;ZNF44,5_prime_UTR_variant,,ENST00000393337,;ZNF44,5_prime_UTR_variant,,ENST00000600003,;ZNF44,5_prime_UTR_variant,,ENST00000397742,;ZNF44,non_coding_transcript_exon_variant,,ENST00000483826,;	37	56	45	SUCCESS
IER2	9592	.	GRCh37	19	13263929	13263929	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	36	0	ENST00000292433.3:c.-72G>T		p.*24*	ENST00000292433	NM_004907.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12295.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGTTGTC	NONE	.	.	.	.	.	ENSP00000465617	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000588173	Transcript	.	.	ENSG00000160888	28871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IER2_HUMAN	IER2	HGNC	.	.	UPI000006D032	SNV	IER2,5_prime_UTR_variant,,ENST00000587885,;IER2,5_prime_UTR_variant,,ENST00000588173,;IER2,5_prime_UTR_variant,,ENST00000292433,;STX10,upstream_gene_variant,,ENST00000587318,;STX10,upstream_gene_variant,,ENST00000587230,;STX10,upstream_gene_variant,,ENST00000588848,;STX10,upstream_gene_variant,,ENST00000593126,;STX10,upstream_gene_variant,,ENST00000589083,;STX10,upstream_gene_variant,,ENST00000242770,;STX10,upstream_gene_variant,,ENST00000343587,;STX10,upstream_gene_variant,,ENST00000591197,;CTC-250I14.6,non_coding_transcript_exon_variant,,ENST00000592882,;CTC-250I14.6,non_coding_transcript_exon_variant,,ENST00000586483,;STX10,upstream_gene_variant,,ENST00000591843,;STX10,upstream_gene_variant,,ENST00000440593,;CTC-250I14.1,downstream_gene_variant,,ENST00000481802,;	1141	36	35	SUCCESS
EEF2	1938	.	GRCh37	19	3981359	3981359	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	74	0	ENST00000309311.6:c.989A>C	p.Lys330Thr	p.K330T	ENST00000309311	NM_001961.3	330	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS12117.1	989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTTGTCC	NONE	.	.	hmmpanther:PTHR23115:SF103,hmmpanther:PTHR23115,Gene3D:1n0uA03,Superfamily_domains:SSF52540	.	.	ENSP00000307940	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000309311	Transcript	1	.	ENSG00000167658	3214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.505)	.	tolerated(0.19)	.	EF2_HUMAN	EEF2	HGNC	Q8TA90_HUMAN,B4DMC6_HUMAN	.	UPI00001649F3	SNV	EEF2,missense_variant,p.Lys330Thr,ENST00000309311,;EEF2,upstream_gene_variant,,ENST00000600794,;SNORD37,downstream_gene_variant,,ENST00000384048,;EEF2,downstream_gene_variant,,ENST00000600720,;EEF2,non_coding_transcript_exon_variant,,ENST00000598436,;EEF2,non_coding_transcript_exon_variant,,ENST00000598182,;EEF2,upstream_gene_variant,,ENST00000596417,;EEF2,downstream_gene_variant,,ENST00000594885,;	1078	74	85	SUCCESS
CHAF1A	10036	.	GRCh37	19	4422733	4422733	+	synonymous_variant	Silent	SNP	G	G	A	rs918450358	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	108	298	1	ENST00000301280.5:c.1188G>A	p.Glu396=	p.E396=	ENST00000301280	NM_005483.2	396	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS32875.1	1188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGAAGGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0,Pfam_domain:PF11600	.	.	ENSP00000301280	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000301280	Transcript	.	.	ENSG00000167670	1910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAF1A_HUMAN	CHAF1A	HGNC	.	.	UPI00002030F8	SNV	CHAF1A,synonymous_variant,p.%3D,ENST00000301280,;CHAF1A,synonymous_variant,p.%3D,ENST00000587739,;CHAF1A,intron_variant,,ENST00000585371,;	1289	299	310	SUCCESS
ZNF285	26974	.	GRCh37	19	44891428	44891428	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766718884	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	125	0	ENST00000330997.4:c.979C>T	p.Arg327Cys	p.R327C	ENST00000330997	NM_152354.3	327	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12638.1	979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGCCTGA	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF173,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000333595	.	4/4	.	.	.	.	.	.	.	.	rs766718884	4/4	PASS	ENST00000330997	Transcript	.	.	ENSG00000267508	13079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.2)	.	ZN285_HUMAN	ZNF285	HGNC	K7ERT5_HUMAN	.	UPI0000456CDE	SNV	ZNF285,missense_variant,p.Arg334Cys,ENST00000591679,;ZNF285,missense_variant,p.Arg327Cys,ENST00000544719,;ZNF285,missense_variant,p.Arg327Cys,ENST00000330997,;CTC-512J12.6,intron_variant,,ENST00000588212,;ZNF285,downstream_gene_variant,,ENST00000585868,;ZNF285,downstream_gene_variant,,ENST00000589738,;	1044	125	105	SUCCESS
CGB1	114335	.	GRCh37	19	49539063	49539063	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1232195649	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	81	0	ENST00000301407.7:c.272C>G	p.Pro91Arg	p.P91R	ENST00000301407	NM_033377.1	91	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12751.2	272	MUTECT|SOMATICSNIPER|VARSCANS	.	CGCGCGGGCAG	NONE	.	.	hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12,Pfam_domain:PF00007,Gene3D:2.10.90.10,SMART_domains:SM00068,Superfamily_domains:SSF57501	.	.	ENSP00000301407	.	3/3	.	.	.	.	.	.	.	.	rs772368413	3/3	PASS	ENST00000301407	Transcript	.	.	ENSG00000267631	16721	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.387)	.	tolerated(0.14)	.	CGB1_HUMAN	CGB1	HGNC	K7ELM3_HUMAN	.	UPI0000EE7C13	SNV	CGB1,missense_variant,p.Pro91Arg,ENST00000301407,;CGB1,missense_variant,p.Pro79Arg,ENST00000601167,;CGB1,missense_variant,p.Pro91Arg,ENST00000391869,;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB2,downstream_gene_variant,,ENST00000359342,;CGB2,downstream_gene_variant,,ENST00000474913,;NTF6B,downstream_gene_variant,,ENST00000591913,;	377	81	86	SUCCESS
MYBPC2	4606	.	GRCh37	19	50961957	50961957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	56	0	ENST00000357701.5:c.2452G>T	p.Gly818Trp	p.G818W	ENST00000357701	NM_004533.3	818	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS46152.1	2452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCGGGGCGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000350332	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000357701	Transcript	.	.	ENSG00000086967	7550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,missense_variant,p.Gly818Trp,ENST00000357701,;	2503	56	74	SUCCESS
DUS3L	56931	.	GRCh37	19	5790068	5790068	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	41	149	0	ENST00000309061.7:c.377C>G	p.Ser126Cys	p.S126C	ENST00000309061	NM_020175.2	126	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS32880.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGGAGGGA	NONE	.	.	PROSITE_profiles:PS50103,Gene3D:1m9oA00	.	.	ENSP00000311977	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000309061	Transcript	.	.	ENSG00000141994	26920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.01)	.	DUS3L_HUMAN	DUS3L	HGNC	D6W636_HUMAN	.	UPI0000140953	SNV	DUS3L,missense_variant,p.Ser126Cys,ENST00000309061,;DUS3L,missense_variant,p.Ser70Cys,ENST00000592491,;DUS3L,intron_variant,,ENST00000320699,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,upstream_gene_variant,,ENST00000590343,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590681,;DUS3L,3_prime_UTR_variant,,ENST00000585587,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589854,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,intron_variant,,ENST00000590110,;DUS3L,upstream_gene_variant,,ENST00000591560,;DUS3L,upstream_gene_variant,,ENST00000593229,;DUS3L,upstream_gene_variant,,ENST00000592468,;DUS3L,upstream_gene_variant,,ENST00000590087,;DUS3L,upstream_gene_variant,,ENST00000589841,;DUS3L,upstream_gene_variant,,ENST00000592673,;	474	149	152	SUCCESS
SH2D3A	10045	.	GRCh37	19	6752638	6752638	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	82	0	ENST00000245908.6:c.1697G>A	p.Gly566Asp	p.G566D	ENST00000245908	NM_005490.2	566	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12173.1	1697	RADIA|MUTECT|MUSE|VARSCANS	.	GGACGCCGAGG	NONE	.	.	hmmpanther:PTHR14247,SMART_domains:SM00147	.	.	ENSP00000245908	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000245908	Transcript	.	.	ENSG00000125731	16885	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.035)	.	deleterious(0.01)	.	SH23A_HUMAN	SH2D3A	HGNC	.	.	UPI000006FD60	SNV	SH2D3A,missense_variant,p.Gly566Asp,ENST00000245908,;SH2D3A,missense_variant,p.Gly473Asp,ENST00000437152,;TRIP10,downstream_gene_variant,,ENST00000313285,;SH2D3A,downstream_gene_variant,,ENST00000597687,;TRIP10,downstream_gene_variant,,ENST00000596758,;TRIP10,downstream_gene_variant,,ENST00000600428,;TRIP10,downstream_gene_variant,,ENST00000313244,;CTD-3128G10.6,upstream_gene_variant,,ENST00000594056,;SH2D3A,intron_variant,,ENST00000597168,;SH2D3A,downstream_gene_variant,,ENST00000597254,;SH2D3A,downstream_gene_variant,,ENST00000599563,;TRIP10,downstream_gene_variant,,ENST00000595305,;SH2D3A,downstream_gene_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000598843,;SH2D3A,downstream_gene_variant,,ENST00000595369,;TRIP10,downstream_gene_variant,,ENST00000600677,;	1967	82	81	SUCCESS
KAZN	23254	.	GRCh37	1	15382644	15382644	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766465498	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	58	175	0	ENST00000376030.2:c.784A>T	p.Met262Leu	p.M262L	ENST00000376030	NM_201628.2	262	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS152.2	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCATGCCG	NONE	.	.	hmmpanther:PTHR12776	.	.	ENSP00000365198	.	5/15	.	.	.	.	.	.	.	.	rs766465498	5/15	PASS	ENST00000376030	Transcript	.	.	ENSG00000189337	29173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.17)	.	KAZRN_HUMAN	KAZN	HGNC	B4DEV2_HUMAN,B0QYQ6_HUMAN	.	UPI0000E1E68A	SNV	KAZN,missense_variant,p.Met168Leu,ENST00000400797,;KAZN,missense_variant,p.Met256Leu,ENST00000361144,;KAZN,missense_variant,p.Met262Leu,ENST00000376030,;KAZN,missense_variant,p.Met262Leu,ENST00000422387,;KAZN,missense_variant,p.Met262Leu,ENST00000503743,;KAZN,missense_variant,p.Met168Leu,ENST00000400798,;KAZN,downstream_gene_variant,,ENST00000376028,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;	1078	175	160	SUCCESS
PRRC2C	23215	.	GRCh37	1	171484941	171484941	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	340	196	518	0	ENST00000338920.4:c.463A>G	p.Lys155Glu	p.K155E	ENST00000338920	NM_015172.3	155	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS1296.2	463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAAAAGAA	NONE	.	.	hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038,Pfam_domain:PF07001	.	.	ENSP00000343629	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,missense_variant,p.Lys155Glu,ENST00000338920,;PRRC2C,missense_variant,p.Lys157Glu,ENST00000367742,;PRRC2C,missense_variant,p.Lys155Glu,ENST00000426496,;PRRC2C,missense_variant,p.Lys157Glu,ENST00000392078,;RNU6-773P,downstream_gene_variant,,ENST00000364256,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000467601,;PRRC2C,downstream_gene_variant,,ENST00000463586,;	700	518	537	SUCCESS
HMCN1	83872	.	GRCh37	1	186088326	186088326	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	53	134	0	ENST00000271588.4:c.11852C>A	p.Ala3951Glu	p.A3951E	ENST00000271588	NM_031935.2	3951	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS30956.1	11852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCAATTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	78/107	.	.	.	.	.	.	.	.	COSM261303	78/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.962)	.	.	1	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ala3951Glu,ENST00000367492,;HMCN1,missense_variant,p.Ala3951Glu,ENST00000271588,;	12081	134	150	SUCCESS
AHDC1	27245	.	GRCh37	1	27876698	27876698	+	synonymous_variant	Silent	SNP	C	C	T	rs1264963623	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	66	0	ENST00000247087.5:c.1929G>A	p.Pro643=	p.P643=	ENST00000247087		643	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS30652.1	1929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCGGCTC	NONE	.	.	hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	SNV	AHDC1,synonymous_variant,p.%3D,ENST00000247087,;AHDC1,synonymous_variant,p.%3D,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	2898	66	75	SUCCESS
PPT1	5538	.	GRCh37	1	40562825	40562825	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778256566	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	270	123	373	0	ENST00000433473.3:c.86C>A	p.Pro29Gln	p.P29Q	ENST00000433473	NM_000310.3	29	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS447.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGGGTCC	NONE	.	.	Prints_domain:PR00414,Superfamily_domains:SSF53474,Pfam_domain:PF02089,hmmpanther:PTHR11247,hmmpanther:PTHR11247:SF8	.	.	ENSP00000394863	.	1/9	.	.	.	.	.	.	.	.	rs778256566	1/9	PASS	ENST00000433473	Transcript	.	.	ENSG00000131238	9325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	PPT1_HUMAN	PPT1	HGNC	E9PSE5_HUMAN,E9PP28_HUMAN	.	UPI0000132113	SNV	PPT1,missense_variant,p.Pro29Gln,ENST00000433473,;PPT1,missense_variant,p.Pro29Gln,ENST00000372779,;PPT1,missense_variant,p.Pro29Gln,ENST00000449045,;PPT1,missense_variant,p.Pro29Gln,ENST00000527311,;PPT1,upstream_gene_variant,,ENST00000526547,;PPT1,missense_variant,p.Pro29Gln,ENST00000529905,;PPT1,missense_variant,p.Pro29Gln,ENST00000530704,;	551	373	393	SUCCESS
LRP8	7804	.	GRCh37	1	53716470	53716470	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	53	0	ENST00000306052.6:c.2568C>A	p.Thr856=	p.T856=	ENST00000306052	NM_004631.4	856	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS578.1	2568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGGTGTT	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF99	.	.	ENSP00000303634	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,synonymous_variant,p.%3D,ENST00000465675,;LRP8,synonymous_variant,p.%3D,ENST00000371454,;LRP8,synonymous_variant,p.%3D,ENST00000347547,;LRP8,synonymous_variant,p.%3D,ENST00000354412,;LRP8,synonymous_variant,p.%3D,ENST00000306052,;LRP8,synonymous_variant,p.%3D,ENST00000529670,;LRP8,3_prime_UTR_variant,,ENST00000480045,;LRP8,non_coding_transcript_exon_variant,,ENST00000459674,;	2670	53	59	SUCCESS
ASB17	127247	.	GRCh37	1	76397715	76397715	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	62	175	0	ENST00000284142.6:c.262G>T	p.Asp88Tyr	p.D88Y	ENST00000284142	NM_080868.2	88	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS671.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCGAGGT	NONE	.	.	hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2	.	.	ENSP00000284142	.	1/3	.	.	.	.	.	.	.	.	COSM1667645	1/3	PASS	ENST00000284142	Transcript	.	.	ENSG00000154007	19769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.151)	.	deleterious_low_confidence(0)	1	ASB17_HUMAN	ASB17	HGNC	.	.	UPI0000073CD7	SNV	ASB17,missense_variant,p.Asp88Tyr,ENST00000284142,;	402	175	178	SUCCESS
MCOLN2	255231	.	GRCh37	1	85406668	85406668	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	115	0	ENST00000370608.3:c.854A>T	p.Lys285Ile	p.K285I	ENST00000370608	NM_153259.2	285	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS30762.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTTCTGA	NONE	.	.	hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF4	.	.	ENSP00000359640	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000370608	Transcript	.	.	ENSG00000153898	13357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0.01)	.	MCLN2_HUMAN	MCOLN2	HGNC	G5EA24_HUMAN	.	UPI00001D7674	SNV	MCOLN2,missense_variant,p.Lys285Ile,ENST00000370608,;MCOLN2,missense_variant,p.Lys257Ile,ENST00000284027,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531325,;MCOLN2,intron_variant,,ENST00000463065,;	922	115	88	SUCCESS
C1orf170	0	.	GRCh37	1	915103	915103	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs933082576	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	42	92	0	ENST00000433179.2:c.1025C>T	p.Pro342Leu	p.P342L	ENST00000433179		342	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	.	1025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGGCACA	NONE	.	.	hmmpanther:PTHR21712:SF30,hmmpanther:PTHR21712	.	.	ENSP00000414022	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000433179	Transcript	.	.	ENSG00000187642	28208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	deleterious(0.05)	.	CA170_HUMAN	C1orf170	HGNC	.	.	UPI0000418FB0	SNV	C1orf170,missense_variant,p.Pro322Leu,ENST00000341290,;C1orf170,missense_variant,p.Pro342Leu,ENST00000433179,;PLEKHN1,downstream_gene_variant,,ENST00000491024,;PLEKHN1,downstream_gene_variant,,ENST00000379409,;PLEKHN1,downstream_gene_variant,,ENST00000379407,;PLEKHN1,downstream_gene_variant,,ENST00000379410,;C1orf170,upstream_gene_variant,,ENST00000479361,;	1025	92	101	SUCCESS
SEC23B	10483	.	GRCh37	20	18506573	18506573	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	30	112	0	ENST00000262544.2:c.832del	p.Glu278ArgfsTer31	p.E278Rfs*31	ENST00000262544		277	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS13137.1	831	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGCTGGAGGT	NONE	.	.	hmmpanther:PTHR11141:SF3,hmmpanther:PTHR11141,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000338844	.	7/20	.	.	.	.	.	.	.	.	COSM3544431	7/20	PASS	ENST00000336714	Transcript	1	.	ENSG00000101310	10702	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	SC23B_HUMAN	SEC23B	HGNC	Q5QPE2_HUMAN,B4DS04_HUMAN	.	UPI0000135455	deletion	SEC23B,frameshift_variant,p.Glu278ArgfsTer31,ENST00000377475,;SEC23B,frameshift_variant,p.Glu278ArgfsTer31,ENST00000377465,;SEC23B,frameshift_variant,p.Glu278ArgfsTer31,ENST00000336714,;SEC23B,frameshift_variant,p.Glu278ArgfsTer31,ENST00000262544,;SEC23B,frameshift_variant,p.Glu278ArgfsTer31,ENST00000450074,;	1263	112	138	SUCCESS
SNORD56	26793	.	GRCh37	20	2637321	2637321	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs775188999	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	54	0	ENST00000413522.1:n.52G>T		p.*18*	ENST00000413522	NR_002739.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13030.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTGAGACT	NONE	byFrequency	.	.	.	.	ENSP00000370589	.	.	.	.	.	.	.	.	.	.	rs775188999	.	PASS	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,intron_variant,,ENST00000329276,;NOP56,intron_variant,,ENST00000415272,;NOP56,downstream_gene_variant,,ENST00000445139,;IDH3B,downstream_gene_variant,,ENST00000380851,;IDH3B,downstream_gene_variant,,ENST00000380843,;SNORD56,non_coding_transcript_exon_variant,,ENST00000413522,;SNORD86,downstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORA51,downstream_gene_variant,,ENST00000606420,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;NOP56,non_coding_transcript_exon_variant,,ENST00000462630,;NOP56,intron_variant,,ENST00000480447,;NOP56,intron_variant,,ENST00000466447,;NOP56,intron_variant,,ENST00000471023,;NOP56,intron_variant,,ENST00000492135,;NOP56,intron_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000462967,;NOP56,downstream_gene_variant,,ENST00000480992,;IDH3B,downstream_gene_variant,,ENST00000491065,;IDH3B,downstream_gene_variant,,ENST00000492240,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467857,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,downstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000470143,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000460258,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,downstream_gene_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000479376,;NOP56,intron_variant,,ENST00000467196,;	.	54	42	SUCCESS
PLCB4	5332	.	GRCh37	20	9424869	9424869	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	92	0	ENST00000278655.4:c.2823T>A	p.Ser941=	p.S941=	ENST00000278655	NM_182797.2	941	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13104.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTTTAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:1jadA00,Pfam_domain:PF06631,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448	.	.	ENSP00000367762	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,synonymous_variant,p.%3D,ENST00000334005,;PLCB4,synonymous_variant,p.%3D,ENST00000414679,;PLCB4,synonymous_variant,p.%3D,ENST00000278655,;PLCB4,synonymous_variant,p.%3D,ENST00000378473,;PLCB4,synonymous_variant,p.%3D,ENST00000378493,;PLCB4,synonymous_variant,p.%3D,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	2838	92	111	SUCCESS
MORC3	23515	.	GRCh37	21	37742093	37742093	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	37	98	0	ENST00000400485.1:c.2427G>A	p.Met809Ile	p.M809I	ENST00000400485	NM_015358.2	809	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS42924.1	2427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGGATGA	NONE	.	.	hmmpanther:PTHR23336:SF12,hmmpanther:PTHR23336	.	.	ENSP00000383333	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000400485	Transcript	.	.	ENSG00000159256	23572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.45)	.	MORC3_HUMAN	MORC3	HGNC	Q86YD6_HUMAN,H0YHQ4_HUMAN,B4DHJ4_HUMAN,A2RU29_HUMAN	.	UPI0000167F94	SNV	MORC3,missense_variant,p.Met809Ile,ENST00000400485,;MORC3,non_coding_transcript_exon_variant,,ENST00000487909,;MORC3,non_coding_transcript_exon_variant,,ENST00000547657,;MORC3,non_coding_transcript_exon_variant,,ENST00000551367,;MORC3,missense_variant,p.Met62Ile,ENST00000552581,;MORC3,missense_variant,p.Met61Ile,ENST00000551788,;MORC3,missense_variant,p.Met61Ile,ENST00000549948,;MORC3,missense_variant,p.Met61Ile,ENST00000546482,;MORC3,downstream_gene_variant,,ENST00000484028,;	2503	98	106	SUCCESS
CHST10	9486	.	GRCh37	2	101023123	101023123	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	29	106	0	ENST00000264249.3:c.15G>T	p.Trp5Cys	p.W5C	ENST00000264249	NM_004854.4	5	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS2047.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCCACTG	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF2	.	.	ENSP00000264249	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious_low_confidence(0)	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,missense_variant,p.Trp5Cys,ENST00000418201,;CHST10,missense_variant,p.Trp5Cys,ENST00000420858,;CHST10,missense_variant,p.Trp53Cys,ENST00000448989,;CHST10,missense_variant,p.Trp5Cys,ENST00000409046,;CHST10,missense_variant,p.Trp53Cys,ENST00000542617,;CHST10,missense_variant,p.Trp5Cys,ENST00000264249,;CHST10,missense_variant,p.Trp5Cys,ENST00000409701,;CHST10,missense_variant,p.Trp5Cys,ENST00000421474,;CHST10,missense_variant,p.Trp5Cys,ENST00000435960,;CHST10,non_coding_transcript_exon_variant,,ENST00000484382,;CHST10,downstream_gene_variant,,ENST00000485085,;CHST10,downstream_gene_variant,,ENST00000487860,;	401	106	115	SUCCESS
GCC2	9648	.	GRCh37	2	109087121	109087121	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	277	153	454	0	ENST00000309863.6:c.1336T>A	p.Ser446Thr	p.S446T	ENST00000309863	NM_181453.3	446	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS33268.1	1336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTCAGAT	NONE	.	.	hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23	.	.	ENSP00000307939	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000309863	Transcript	.	.	ENSG00000135968	23218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.07)	.	GCC2_HUMAN	GCC2	HGNC	B8ZZW2_HUMAN,B3KR21_HUMAN	.	UPI000049DF0C	SNV	GCC2,missense_variant,p.Ser446Thr,ENST00000309863,;GCC2,missense_variant,p.Ser409Thr,ENST00000409896,;GCC2,upstream_gene_variant,,ENST00000492785,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,upstream_gene_variant,,ENST00000462897,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000447558,;	2050	454	430	SUCCESS
POTEE	445582	.	GRCh37	2	132021745	132021745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758912008	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	36	195	0	ENST00000356920.5:c.2717G>A	p.Arg906Gln	p.R906Q	ENST00000356920	NM_001083538.1	906	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS46414.1	2717	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCGGGAAA	NONE	byFrequency	.	hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:3.90.640.10,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000439189	.	15/15	.	.	.	.	.	.	.	.	rs758912008	15/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.485)	.	deleterious_low_confidence(0.04)	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,missense_variant,p.Arg906Gln,ENST00000356920,;POTEE,3_prime_UTR_variant,,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	2811	195	184	SUCCESS
NEB	4703	.	GRCh37	2	152581406	152581406	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	63	0	ENST00000172853.10:c.472G>A	p.Glu158Lys	p.E158K	ENST00000172853		158	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS54407.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCAATAT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	7/182	.	.	.	.	.	.	.	.	.	7/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Glu158Lys,ENST00000603639,;NEB,missense_variant,p.Glu158Lys,ENST00000172853,;NEB,missense_variant,p.Glu158Lys,ENST00000427231,;NEB,missense_variant,p.Glu158Lys,ENST00000397345,;NEB,missense_variant,p.Glu158Lys,ENST00000604864,;NEB,missense_variant,p.Glu158Lys,ENST00000409198,;	675	63	53	SUCCESS
SLC4A10	57282	.	GRCh37	2	162738921	162738921	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	101	322	0	ENST00000446997.1:c.1161T>A	p.Ile387=	p.I387=	ENST00000446997	NM_001178015.1	387	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54411.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATTGGCAG	NONE	.	.	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Gene3D:1hynR00,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804	.	.	ENSP00000393066	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,synonymous_variant,p.%3D,ENST00000446997,;SLC4A10,synonymous_variant,p.%3D,ENST00000421911,;SLC4A10,synonymous_variant,p.%3D,ENST00000272716,;SLC4A10,synonymous_variant,p.%3D,ENST00000415876,;SLC4A10,synonymous_variant,p.%3D,ENST00000375514,;SLC4A10,intron_variant,,ENST00000535165,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,synonymous_variant,p.%3D,ENST00000446228,;	1254	322	293	SUCCESS
UBR3	130507	.	GRCh37	2	170684512	170684512	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1458282141	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	63	0	ENST00000272793.5:c.495G>C	p.Gln165His	p.Q165H	ENST00000272793		165	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS2238.2	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGGCCGG	NONE	.	.	PROSITE_profiles:PS51157,hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25,Pfam_domain:PF02207,SMART_domains:SM00396	.	.	ENSP00000396068	.	1/39	.	.	.	.	.	.	.	.	.	1/39	PASS	ENST00000418381	Transcript	.	.	ENSG00000144357	30467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	tolerated(0.08)	.	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	SNV	UBR3,missense_variant,p.Gln165His,ENST00000418381,;UBR3,missense_variant,p.Gln165His,ENST00000272793,;METTL5,upstream_gene_variant,,ENST00000260953,;METTL5,upstream_gene_variant,,ENST00000410097,;METTL5,upstream_gene_variant,,ENST00000308099,;METTL5,upstream_gene_variant,,ENST00000409965,;METTL5,upstream_gene_variant,,ENST00000538491,;METTL5,upstream_gene_variant,,ENST00000392640,;METTL5,upstream_gene_variant,,ENST00000409340,;METTL5,upstream_gene_variant,,ENST00000409837,;METTL5,upstream_gene_variant,,ENST00000537825,;METTL5,upstream_gene_variant,,ENST00000471560,;	495	64	64	SUCCESS
APOB	338	.	GRCh37	2	21231201	21231202	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1370739920	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	97	32	82	0	ENST00000233242.1:c.8538dup	p.Gly2847TrpfsTer5	p.G2847Wfs*5	ENST00000233242	NM_000384.2	2846	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1703.1	8538-8539	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTCCAAAAA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.Gly2847TrpfsTer5,ENST00000233242,;	8666-8667	82	129	SUCCESS
FAM134A	0	.	GRCh37	2	220046857	220046857	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	66	237	0	ENST00000430297.2:c.1138A>C	p.Arg380=	p.R380=	ENST00000430297	NM_024293.4	380	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS2434.1	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAAGGCAA	NONE	.	.	.	.	.	ENSP00000395249	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000430297	Transcript	.	.	ENSG00000144567	28450	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F134A_HUMAN	FAM134A	HGNC	C9JIF3_HUMAN,C9J3K5_HUMAN	.	UPI000013D996	SNV	FAM134A,synonymous_variant,p.%3D,ENST00000430297,;FAM134A,synonymous_variant,p.%3D,ENST00000420189,;FAM134A,downstream_gene_variant,,ENST00000443757,;FAM134A,downstream_gene_variant,,ENST00000458520,;FAM134A,downstream_gene_variant,,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000409789,;CNPPD1,upstream_gene_variant,,ENST00000453038,;FAM134A,downstream_gene_variant,,ENST00000430747,;FAM134A,3_prime_UTR_variant,,ENST00000273048,;FAM134A,downstream_gene_variant,,ENST00000452293,;FAM134A,downstream_gene_variant,,ENST00000481925,;FAM134A,downstream_gene_variant,,ENST00000465672,;	1274	237	219	SUCCESS
SLC4A3	6508	.	GRCh37	2	220497642	220497642	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	40	141	0	ENST00000317151.3:c.1188del	p.His397ThrfsTer7	p.H397Tfs*7	ENST00000317151		396	gcA/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS2446.1	1269	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTGCACACCT	NONE	.	.	Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834,Pfam_domain:PF07565,Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15	.	.	ENSP00000362867	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	deletion	SLC4A3,frameshift_variant,p.His397ThrfsTer7,ENST00000373760,;SLC4A3,frameshift_variant,p.His424ThrfsTer7,ENST00000273063,;SLC4A3,frameshift_variant,p.His199ThrfsTer7,ENST00000413743,;SLC4A3,frameshift_variant,p.His397ThrfsTer7,ENST00000317151,;SLC4A3,frameshift_variant,p.His397ThrfsTer7,ENST00000358055,;SLC4A3,frameshift_variant,p.His424ThrfsTer7,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,frameshift_variant,p.His97ThrfsTer7,ENST00000416910,;SLC4A3,frameshift_variant,p.His397ThrfsTer7,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	1538	141	177	SUCCESS
DNER	92737	.	GRCh37	2	230253101	230253101	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200514482	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	53	0	ENST00000341772.4:c.1735G>A	p.Asp579Asn	p.D579N	ENST00000341772	NM_139072.3	579	Gac/Aac	0	T:0	T:0	.	T:0	.	T	D/N	protein_coding	YES	CCDS33390.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCGCACT	BUFFER|p.C578C|c.1734C>T|4	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184	T:0	T:0.0001	ENSP00000345229	T:0.001	11/13	.	.	.	.	.	.	.	.	rs200514482,COSM1017507	11/13	PASS	ENST00000341772	Transcript	.	T:0.0006	ENSG00000187957	24456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.126)	T:0.002	deleterious(0)	0,1	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,missense_variant,p.Asp579Asn,ENST00000341772,;	1870	53	74	SUCCESS
NEU4	129807	.	GRCh37	2	242758032	242758032	+	synonymous_variant	Silent	SNP	G	G	A	rs570038056	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	69	0	ENST00000391969.2:c.1113G>A	p.Pro371=	p.P371=	ENST00000391969	NM_001167602.1	371	ccG/ccA	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS54441.1	1152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCCCCA	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF50939,Gene3D:2.120.10.10,hmmpanther:PTHR10628:SF8,hmmpanther:PTHR10628	A:0	.	ENSP00000320318	A:0	4/4	.	.	.	.	.	.	.	.	rs570038056	4/4	PASS	ENST00000325935	Transcript	.	A:0.0006	ENSG00000204099	21328	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0031	.	.	NEUR4_HUMAN	NEU4	HGNC	C9JRN9_HUMAN,C9J5X2_HUMAN,C9J2V4_HUMAN,B3KR54_HUMAN	.	UPI0000EE378E	SNV	NEU4,synonymous_variant,p.%3D,ENST00000407683,;NEU4,synonymous_variant,p.%3D,ENST00000325935,;NEU4,synonymous_variant,p.%3D,ENST00000391969,;NEU4,synonymous_variant,p.%3D,ENST00000405370,;NEU4,synonymous_variant,p.%3D,ENST00000404257,;NEU4,downstream_gene_variant,,ENST00000435934,;NEU4,downstream_gene_variant,,ENST00000415936,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000420288,;NEU4,downstream_gene_variant,,ENST00000423583,;NEU4,downstream_gene_variant,,ENST00000426032,;AC114730.3,upstream_gene_variant,,ENST00000420272,;NEU4,3_prime_UTR_variant,,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000406147,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000494678,;NEU4,downstream_gene_variant,,ENST00000476542,;	1581	69	76	SUCCESS
EHD3	30845	.	GRCh37	2	31457454	31457454	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs539844615	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	50	0	ENST00000322054.5:c.-34T>A		p.*12*	ENST00000322054	NM_014600.2			0	.	G:0	.	G:0	.	A	.	protein_coding	YES	CCDS1774.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGGGGC	NONE	by1000G	.	.	G:0.001	.	ENSP00000327116	G:0	1/6	.	.	.	.	.	.	.	.	rs539844615	1/6	PASS	ENST00000322054	Transcript	.	G:0.0002	ENSG00000013016	3244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	EHD3_HUMAN	EHD3	HGNC	.	.	UPI0000140D07	SNV	EHD3,5_prime_UTR_variant,,ENST00000322054,;EHD3,5_prime_UTR_variant,,ENST00000541626,;CAPN14,upstream_gene_variant,,ENST00000398824,;	252	50	61	SUCCESS
USP34	9736	.	GRCh37	2	61632843	61632843	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	99	291	1	ENST00000398571.2:c.552G>A		p.X184_splice	ENST00000398571	NM_014709.3	184	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS42686.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACCTCAAT	NONE	.	.	.	.	.	ENSP00000381577	.	3/80	.	.	.	.	.	.	.	.	.	3/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,synonymous_variant,p.%3D,ENST00000398571,;USP34,intron_variant,,ENST00000453133,;	629	292	281	SUCCESS
ARHGAP25	9938	.	GRCh37	2	69014971	69014971	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	77	0	ENST00000409202.3:c.350-1G>A		p.X117_splice	ENST00000409202		117		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33214.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGCCTCA	NONE	.	.	.	.	.	ENSP00000386911	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409202	Transcript	.	.	ENSG00000163219	28951	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG25_HUMAN	ARHGAP25	HGNC	C9JB56_HUMAN	.	UPI0000251EDD	SNV	ARHGAP25,splice_acceptor_variant,,ENST00000409030,;ARHGAP25,splice_acceptor_variant,,ENST00000409202,;ARHGAP25,splice_acceptor_variant,,ENST00000544262,;ARHGAP25,splice_acceptor_variant,,ENST00000497079,;ARHGAP25,splice_acceptor_variant,,ENST00000295381,;ARHGAP25,splice_acceptor_variant,,ENST00000409220,;ARHGAP25,intron_variant,,ENST00000467265,;ARHGAP25,splice_acceptor_variant,,ENST00000481684,;ARHGAP25,splice_acceptor_variant,,ENST00000485700,;ARHGAP25,intron_variant,,ENST00000456116,;ARHGAP25,splice_acceptor_variant,,ENST00000463483,;ARHGAP25,splice_acceptor_variant,,ENST00000473986,;ARHGAP25,intron_variant,,ENST00000488795,;	.	77	71	SUCCESS
LRRTM1	347730	.	GRCh37	2	80529433	80529433	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	62	0	ENST00000295057.3:c.1512C>G	p.Ile504Met	p.I504M	ENST00000295057	NM_178839.4	504	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1966.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTTGATGAT	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.06)	.	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,missense_variant,p.Ile504Met,ENST00000295057,;LRRTM1,missense_variant,p.Ile504Met,ENST00000409148,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;LRRTM1,downstream_gene_variant,,ENST00000415098,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000416268,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Ile504Met,ENST00000417012,;LRRTM1,missense_variant,p.Ile504Met,ENST00000433224,;	2169	62	68	SUCCESS
DNAH6	1768	.	GRCh37	2	84838966	84838966	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1008101188	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	315	156	437	0	ENST00000237449.6:c.3463G>A	p.Ala1155Thr	p.A1155T	ENST00000237449		1155	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46348.1	3463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGCTACT	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	22/77	.	.	.	.	.	.	.	.	.	22/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.08)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Ala1155Thr,ENST00000237449,;DNAH6,missense_variant,p.Ala1155Thr,ENST00000398278,;DNAH6,missense_variant,p.Ala1155Thr,ENST00000389394,;	3600	437	471	SUCCESS
ST3GAL5	8869	.	GRCh37	2	86075201	86075201	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	58	188	1	ENST00000377332.3:c.445C>A	p.Pro149Thr	p.P149T	ENST00000377332	NM_003896.3	149	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS1986.2	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGGGGCCT	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713:SF5,hmmpanther:PTHR13713	.	.	ENSP00000366549	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000377332	Transcript	.	.	ENSG00000115525	10872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.72)	.	SIAT9_HUMAN	ST3GAL5	HGNC	C9JYS9_HUMAN	.	UPI000015F319	SNV	ST3GAL5,missense_variant,p.Pro121Thr,ENST00000393805,;ST3GAL5,missense_variant,p.Pro121Thr,ENST00000455892,;ST3GAL5,missense_variant,p.Pro149Thr,ENST00000377332,;ST3GAL5,missense_variant,p.Pro126Thr,ENST00000393808,;ST3GAL5,downstream_gene_variant,,ENST00000525834,;ST3GAL5,downstream_gene_variant,,ENST00000473122,;ST3GAL5,downstream_gene_variant,,ENST00000461199,;ST3GAL5,downstream_gene_variant,,ENST00000487896,;ST3GAL5,downstream_gene_variant,,ENST00000461892,;ST3GAL5,3_prime_UTR_variant,,ENST00000306262,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461206,;ST3GAL5,downstream_gene_variant,,ENST00000433665,;	554	189	163	SUCCESS
BOC	91653	.	GRCh37	3	112997029	112997029	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	113	0	ENST00000355385.3:c.1627A>T	p.Ser543Cys	p.S543C	ENST00000355385	NM_033254.2	543	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS2971.1	1627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGAGCTTG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000418663	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,missense_variant,p.Ser543Cys,ENST00000355385,;BOC,missense_variant,p.Ser543Cys,ENST00000495514,;BOC,missense_variant,p.Ser544Cys,ENST00000273395,;BOC,non_coding_transcript_exon_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,upstream_gene_variant,,ENST00000463971,;	2331	113	126	SUCCESS
KIAA2018	0	.	GRCh37	3	113380094	113380094	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs768374265	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	63	176	0	ENST00000316407.4:c.435A>T	p.Lys145Asn	p.K145N	ENST00000316407	NM_001009899.2	145	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS43133.1	435	RADIA|SOMATICSNIPER|VARSCANS	.	ATTTTTTTTTG	NONE	.	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	rs768374265	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,missense_variant,p.Lys145Asn,ENST00000478658,;KIAA2018,missense_variant,p.Lys145Asn,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	846	176	198	SUCCESS
FBLN2	2199	.	GRCh37	3	13613082	13613082	+	synonymous_variant	Silent	SNP	G	G	A	rs748826517	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	130	1	ENST00000295760.7:c.1227G>A	p.Pro409=	p.P409=	ENST00000295760	NM_001998.2	409	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS46761.1	1227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCGCAAGT	NONE	byFrequency	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	.	.	ENSP00000384169	.	2/18	.	.	.	.	.	.	.	.	rs748826517	2/18	PASS	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	SNV	FBLN2,synonymous_variant,p.%3D,ENST00000295760,;FBLN2,synonymous_variant,p.%3D,ENST00000492059,;FBLN2,synonymous_variant,p.%3D,ENST00000404922,;FBLN2,synonymous_variant,p.%3D,ENST00000535798,;FBLN2,downstream_gene_variant,,ENST00000465610,;	1346	131	118	SUCCESS
CLSTN2	64084	.	GRCh37	3	140123468	140123468	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	67	189	0	ENST00000458420.3:c.497A>T	p.Lys166Met	p.K166M	ENST00000458420	NM_022131.2	166	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS3112.1	497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAAGGCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000402460	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0.01)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Lys166Met,ENST00000458420,;AC092988.1,downstream_gene_variant,,ENST00000580582,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	687	189	170	SUCCESS
ATR	545	.	GRCh37	3	142215316	142215316	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	65	0	ENST00000350721.4:c.5785A>T	p.Arg1929Trp	p.R1929W	ENST00000350721	NM_001184.3	1929	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3124.1	5785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTGGCAC	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.40.10,Pfam_domain:PF02259,Superfamily_domains:SSF48452	.	.	ENSP00000343741	.	34/47	.	.	.	.	.	.	.	.	.	34/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Arg1865Trp,ENST00000383101,;ATR,missense_variant,p.Arg1929Trp,ENST00000350721,;ATR,3_prime_UTR_variant,,ENST00000514393,;ATR,non_coding_transcript_exon_variant,,ENST00000507620,;	5907	65	54	SUCCESS
SLC2A2	6514	.	GRCh37	3	170732355	170732355	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	46	134	0	ENST00000314251.3:c.274C>G	p.Leu92Val	p.L92V	ENST00000314251	NM_001278659.1	92	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS3215.1	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTAGTTGAG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879	.	.	ENSP00000323568	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.11)	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,missense_variant,p.Leu92Val,ENST00000314251,;SLC2A2,intron_variant,,ENST00000461867,;SLC2A2,intron_variant,,ENST00000382808,;SLC2A2,missense_variant,p.Leu92Val,ENST00000497642,;SLC2A2,intron_variant,,ENST00000469787,;	354	134	135	SUCCESS
CDC25A	993	.	GRCh37	3	48229454	48229454	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	45	0	ENST00000302506.3:c.-17C>A		p.*6*	ENST00000302506	NM_001789.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2760.1	.	MUTECT|MUSE	.	GCCTCGCAGAG	NONE	.	.	.	.	.	ENSP00000303706	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000302506	Transcript	.	.	ENSG00000164045	1725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MPIP1_HUMAN	CDC25A	HGNC	K7N7S0_HUMAN,C9JH94_HUMAN	.	UPI000006ED4E	SNV	CDC25A,5_prime_UTR_variant,,ENST00000443342,;CDC25A,5_prime_UTR_variant,,ENST00000302506,;CDC25A,5_prime_UTR_variant,,ENST00000437972,;CDC25A,5_prime_UTR_variant,,ENST00000351231,;	393	45	35	SUCCESS
ZNF589	51385	.	GRCh37	3	48310031	48310031	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	53	146	0	ENST00000354698.3:c.850G>T	p.Gly284Cys	p.G284C	ENST00000354698	NM_016089.2	284	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS43085.1	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGGCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF26,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000346729	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354698	Transcript	.	.	ENSG00000164048	16747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ZN589_HUMAN	ZNF589	HGNC	Q59FS2_HUMAN	.	UPI0000190E9A	SNV	ZNF589,missense_variant,p.Gly284Cys,ENST00000354698,;ZNF589,intron_variant,,ENST00000440261,;ZNF589,intron_variant,,ENST00000412564,;ZNF589,intron_variant,,ENST00000427617,;ZNF589,downstream_gene_variant,,ENST00000454212,;ZNF589,missense_variant,p.Gly284Cys,ENST00000448461,;ZNF589,3_prime_UTR_variant,,ENST00000457782,;	922	146	141	SUCCESS
ZNF589	51385	.	GRCh37	3	48310032	48310032	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	52	142	0	ENST00000354698.3:c.851G>T	p.Gly284Val	p.G284V	ENST00000354698	NM_016089.2	284	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43085.1	851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGGCTTTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF26,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000346729	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354698	Transcript	.	.	ENSG00000164048	16747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZN589_HUMAN	ZNF589	HGNC	Q59FS2_HUMAN	.	UPI0000190E9A	SNV	ZNF589,missense_variant,p.Gly284Val,ENST00000354698,;ZNF589,intron_variant,,ENST00000440261,;ZNF589,intron_variant,,ENST00000412564,;ZNF589,intron_variant,,ENST00000427617,;ZNF589,downstream_gene_variant,,ENST00000454212,;ZNF589,missense_variant,p.Gly284Val,ENST00000448461,;ZNF589,3_prime_UTR_variant,,ENST00000457782,;	923	142	142	SUCCESS
DNAH12	201625	.	GRCh37	3	57493370	57493370	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	57	0	ENST00000351747.2:c.897G>A		p.X299_splice	ENST00000351747	NM_178504.4	299	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS33771.1	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCTGATT	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676	.	.	ENSP00000312554	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000311202	Transcript	.	.	ENSG00000174844	2943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH12_HUMAN	DNAH12	HGNC	.	.	UPI000036716B	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000389536,;DNAH12,synonymous_variant,p.%3D,ENST00000311202,;DNAH12,synonymous_variant,p.%3D,ENST00000495027,;RNU6-1181P,upstream_gene_variant,,ENST00000384191,;	1075	57	58	SUCCESS
INTU	27152	.	GRCh37	4	128564999	128564999	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776806585	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	146	467	0	ENST00000335251.6:c.470G>A	p.Arg157Gln	p.R157Q	ENST00000335251	NM_015693.3	157	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS34061.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGATACA	NONE	byFrequency	.	hmmpanther:PTHR21082	.	.	ENSP00000334003	.	2/16	.	.	.	.	.	.	.	.	rs776806585,COSM732641	2/16	PASS	ENST00000335251	Transcript	.	.	ENSG00000164066	29239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.013)	.	tolerated(0.5)	0,1	INTU_HUMAN	INTU	HGNC	B3KVS6_HUMAN	.	UPI00001C1E05	SNV	INTU,missense_variant,p.Arg138Gln,ENST00000504491,;INTU,missense_variant,p.Arg157Gln,ENST00000296461,;INTU,missense_variant,p.Arg157Gln,ENST00000335251,;INTU,missense_variant,p.Arg157Gln,ENST00000503952,;INTU,missense_variant,p.Arg157Gln,ENST00000503626,;	573	467	424	SUCCESS
TAPT1	202018	.	GRCh37	4	16168391	16168391	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	51	92	0	ENST00000405303.2:c.1339A>T	p.Ser447Cys	p.S447C	ENST00000405303	NM_153365.2	447	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS47030.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTATTAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4,Pfam_domain:PF05346	.	.	ENSP00000385347	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000405303	Transcript	.	.	ENSG00000169762	26887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TAPT1_HUMAN	TAPT1	HGNC	B4DJJ3_HUMAN	.	UPI0000253B29	SNV	TAPT1,missense_variant,p.Ser447Cys,ENST00000405303,;TAPT1,missense_variant,p.Ser336Cys,ENST00000399920,;TAPT1,3_prime_UTR_variant,,ENST00000304584,;TAPT1,3_prime_UTR_variant,,ENST00000505603,;TAPT1,3_prime_UTR_variant,,ENST00000513782,;TAPT1,non_coding_transcript_exon_variant,,ENST00000503858,;TAPT1,non_coding_transcript_exon_variant,,ENST00000507728,;TAPT1,non_coding_transcript_exon_variant,,ENST00000508886,;	1423	92	91	SUCCESS
HELT	391723	.	GRCh37	4	185940790	185940790	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	50	145	0	ENST00000515777.1:c.133-111G>A		p.*45*	ENST00000515777		93		0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34113.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGAGGCT	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF8,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353	.	.	ENSP00000343464	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338875	Transcript	.	.	ENSG00000187821	33783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.35)	.	HELT_HUMAN	HELT	HGNC	.	.	UPI0000419186	SNV	HELT,missense_variant,p.Glu93Lys,ENST00000338875,;HELT,intron_variant,,ENST00000515777,;HELT,intron_variant,,ENST00000505610,;HELT,non_coding_transcript_exon_variant,,ENST00000513599,;	277	145	153	SUCCESS
PYURF	100996939	.	GRCh37	4	89444729	89444729	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	24	167	0	ENST00000273968.4:c.123G>A	p.Lys41=	p.K41=	ENST00000273968	NM_001042616.2	41	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS3631.1	123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCTTGCC	NONE	.	.	.	.	.	ENSP00000273968	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000273968	Transcript	.	.	ENSG00000145337	44317	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PREY_HUMAN	PYURF	HGNC	.	.	UPI0000070EC8	SNV	PYURF,synonymous_variant,p.%3D,ENST00000273968,;HERC3,upstream_gene_variant,,ENST00000513325,;PIGY,upstream_gene_variant,,ENST00000527353,;HERC3,non_coding_transcript_exon_variant,,ENST00000601319,;HERC3,upstream_gene_variant,,ENST00000597259,;HERC3,upstream_gene_variant,,ENST00000598772,;RP11-466G12.2,upstream_gene_variant,,ENST00000503756,;	236	167	135	SUCCESS
PJA2	9867	.	GRCh37	5	108679977	108679977	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	260	144	382	1	ENST00000361189.2:c.1915A>T	p.Ser639Cys	p.S639C	ENST00000361189	NM_014819.4	639	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS4099.1	1915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACTGCAAC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000354775	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000361189	Transcript	.	.	ENSG00000198961	17481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	tolerated(0.12)	.	PJA2_HUMAN	PJA2	HGNC	.	.	UPI000013D192	SNV	PJA2,missense_variant,p.Ser639Cys,ENST00000361189,;PJA2,missense_variant,p.Ser639Cys,ENST00000361557,;	2155	383	404	SUCCESS
TERT	7015	.	GRCh37	5	1295127	1295154	+	5_prime_UTR_variant	5'UTR	DEL	GCTTCCCACGTGCGCAGCAGGACGCAGC	GCTTCCCACGTGCGCAGCAGGACGCAGC	-	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	GCTTCCCACGTGCGCAGCAGGACGCAGC	GCTTCCCACGTGCGCAGCAGGACGCAGC	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	75	0	ENST00000310581.5:c.-50_-23del		p.*17*	ENST00000310581	NM_198253.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3861.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGGGCTTCCCACGTGCGCAGCAGGACGCAGCGCTGC	BUFFER|p.?|c.1-91C>T|3	.	.	.	.	.	ENSP00000309572	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	deletion	TERT,5_prime_UTR_variant,,ENST00000296820,;TERT,5_prime_UTR_variant,,ENST00000310581,;TERT,upstream_gene_variant,,ENST00000508104,;TERT,upstream_gene_variant,,ENST00000334602,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,upstream_gene_variant,,ENST00000460137,;	9-36	75	68	SUCCESS
TERT	7015	.	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs878855297	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	75	0	ENST00000310581.5:c.-57A>C		p.*19*	ENST00000310581	NM_198253.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3861.2	.	SOMATICSNIPER|VARSCANS	.	CTGCCTGAAAC	NONE	.	.	.	.	.	ENSP00000309572	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,5_prime_UTR_variant,,ENST00000296820,;TERT,5_prime_UTR_variant,,ENST00000310581,;TERT,upstream_gene_variant,,ENST00000508104,;TERT,upstream_gene_variant,,ENST00000334602,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,upstream_gene_variant,,ENST00000460137,;	2	76	63	SUCCESS
GDF9	2661	.	GRCh37	5	132197519	132197519	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	87	0	ENST00000378673.2:c.1127G>A	p.Arg376Lys	p.R376K	ENST00000378673	NM_001288828.1	376	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS4162.1	1127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCTGTGC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF19,PROSITE_patterns:PS00250,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000367942	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000378673	Transcript	.	.	ENSG00000164404	4224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.34)	.	GDF9_HUMAN	GDF9	HGNC	B4DXG3_HUMAN	.	UPI000012B396	SNV	GDF9,missense_variant,p.Arg376Lys,ENST00000296875,;GDF9,missense_variant,p.Arg376Lys,ENST00000378673,;UQCRQ,upstream_gene_variant,,ENST00000378667,;UQCRQ,upstream_gene_variant,,ENST00000378670,;UQCRQ,upstream_gene_variant,,ENST00000378665,;GDF9,downstream_gene_variant,,ENST00000472320,;UQCRQ,upstream_gene_variant,,ENST00000496429,;GDF9,downstream_gene_variant,,ENST00000464378,;UQCRQ,upstream_gene_variant,,ENST00000480372,;UQCRQ,upstream_gene_variant,,ENST00000498309,;	1994	88	84	SUCCESS
CLPTM1L	81037	.	GRCh37	5	1325908	1325908	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	71	253	0	ENST00000320895.5:c.1104G>A	p.Leu368=	p.L368=	ENST00000320895	NM_030782.3	368	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3862.1	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCAATGC	NONE	.	.	hmmpanther:PTHR21347:SF1,hmmpanther:PTHR21347,Pfam_domain:PF05602	.	.	ENSP00000313854	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000320895	Transcript	.	.	ENSG00000049656	24308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLP1L_HUMAN	CLPTM1L	HGNC	B3KY18_HUMAN	.	UPI00000707DF	SNV	CLPTM1L,synonymous_variant,p.%3D,ENST00000320927,;CLPTM1L,synonymous_variant,p.%3D,ENST00000320895,;CLPTM1L,synonymous_variant,p.%3D,ENST00000507807,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000507195,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000513250,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000506641,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000508765,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503534,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503042,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503151,;CLPTM1L,upstream_gene_variant,,ENST00000505605,;CLPTM1L,upstream_gene_variant,,ENST00000505914,;CLPTM1L,upstream_gene_variant,,ENST00000515719,;CLPTM1L,upstream_gene_variant,,ENST00000512451,;CLPTM1L,upstream_gene_variant,,ENST00000511268,;	1362	253	203	SUCCESS
PCDHA6	56142	.	GRCh37	5	140209202	140209202	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1429736622	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	41	140	1	ENST00000529310.1:c.1526C>T	p.Ser509Leu	p.S509L	ENST00000529310	NM_018909.2	509	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS47281.1	1526	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCGGTGC	BUFFER|p.H511H|c.1533C>T|3,BUFFER|p.H511H|c.1533C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.55)	.	deleterious_low_confidence(0.01)	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,missense_variant,p.Ser509Leu,ENST00000527624,;PCDHA6,missense_variant,p.Ser509Leu,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	1640	141	129	SUCCESS
PCDHB13	56123	.	GRCh37	5	140595753	140595753	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	103	0	ENST00000341948.4:c.2058C>T	p.Leu686=	p.L686=	ENST00000341948	NM_018933.2	686	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4255.1	2058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCACCGT	NONE	.	.	hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,synonymous_variant,p.%3D,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	2245	103	90	SUCCESS
GABRG2	2566	.	GRCh37	5	161495110	161495110	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	79	0	ENST00000361925.4:c.105T>C		p.X35_splice	ENST00000361925		35	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47333.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTGGGTA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,Prints_domain:PR01622,Prints_domain:PR01620,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,synonymous_variant,p.%3D,ENST00000361925,;GABRG2,synonymous_variant,p.%3D,ENST00000356592,;GABRG2,synonymous_variant,p.%3D,ENST00000414552,;GABRG2,splice_region_variant,,ENST00000393933,;GABRG2,synonymous_variant,p.%3D,ENST00000522990,;GABRG2,synonymous_variant,p.%3D,ENST00000523372,;	330	79	91	SUCCESS
DOCK2	1794	.	GRCh37	5	169138990	169138990	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	84	0	ENST00000256935.8:c.1534C>T	p.Arg512Ter	p.R512*	ENST00000256935	NM_004946.2	512	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS4371.1	1534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCGACAT	NONE	.	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF14429	.	.	ENSP00000256935	.	16/52	.	.	.	.	.	.	.	.	COSM1065702	16/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,stop_gained,p.Arg512Ter,ENST00000256935,;DOCK2,synonymous_variant,p.%3D,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,stop_gained,p.Arg512Ter,ENST00000524185,;	1614	84	90	SUCCESS
LMAN2	10960	.	GRCh37	5	176778777	176778777	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	30	0	ENST00000303127.7:c.-129C>T		p.*43*	ENST00000303127	NM_006816.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4417.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGACGGG	NONE	.	.	.	.	.	ENSP00000303366	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000303127	Transcript	.	.	ENSG00000169223	16986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LMAN2_HUMAN	LMAN2	HGNC	D6RIU4_HUMAN,B4DWN1_HUMAN	.	UPI0000037B35	SNV	LMAN2,5_prime_UTR_variant,,ENST00000303127,;LMAN2,upstream_gene_variant,,ENST00000514458,;LMAN2,upstream_gene_variant,,ENST00000502560,;LMAN2,upstream_gene_variant,,ENST00000513877,;LMAN2,upstream_gene_variant,,ENST00000515209,;LMAN2,upstream_gene_variant,,ENST00000506310,;	77	30	34	SUCCESS
RP11-423H2.1	0	.	GRCh37	5	177310834	177310834	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	244	39	375	0	ENST00000506672.1:n.1131G>A		p.*377*	ENST00000506672				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|VARSCANS	.	TGAGAGGAGGT	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000506672	Transcript	.	.	ENSG00000170089	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-423H2.1	Clone_based_vega_gene	.	.	.	SNV	RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000515065,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000506672,;RP11-423H2.1,intron_variant,,ENST00000514635,;RP11-423H2.1,intron_variant,,ENST00000507037,;RP11-423H2.1,intron_variant,,ENST00000358442,;RP11-423H2.1,downstream_gene_variant,,ENST00000511074,;RP11-423H2.1,upstream_gene_variant,,ENST00000503449,;RP11-423H2.1,downstream_gene_variant,,ENST00000506082,;RP11-423H2.1,downstream_gene_variant,,ENST00000510692,;RP11-423H2.1,downstream_gene_variant,,ENST00000515525,;RP11-423H2.1,downstream_gene_variant,,ENST00000502601,;RP11-423H2.1,downstream_gene_variant,,ENST00000504756,;RP11-423H2.1,non_coding_transcript_exon_variant,,ENST00000303154,;RP11-423H2.1,downstream_gene_variant,,ENST00000512851,;	1131	375	284	SUCCESS
DIMT1	27292	.	GRCh37	5	61694687	61694687	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	109	297	1	ENST00000199320.4:c.262C>G	p.Pro88Ala	p.P88A	ENST00000199320	NM_014473.2	88	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS3981.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGGTCAA	BUFFER|p.E85G|c.254A>G|3	.	.	PROSITE_profiles:PS51689,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Gene3D:3.40.50.150,Pfam_domain:PF00398,SMART_domains:SM00650,Superfamily_domains:SSF53335	.	.	ENSP00000199320	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000199320	Transcript	.	.	ENSG00000086189	30217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.04)	.	DIM1_HUMAN	DIMT1	HGNC	B4DRY2_HUMAN	.	UPI00001293E2	SNV	DIMT1,missense_variant,p.Pro88Ala,ENST00000199320,;DIMT1,missense_variant,p.Pro88Ala,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,missense_variant,p.Pro88Ala,ENST00000514911,;DIMT1,non_coding_transcript_exon_variant,,ENST00000509182,;	423	298	309	SUCCESS
GJA1	2697	.	GRCh37	6	121768058	121768058	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104893964	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	84	1	ENST00000282561.3:c.65G>A	p.Gly22Glu	p.G22E	ENST00000282561	NM_000165.3	22	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS5123.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TGGAGGGAAGG	NONE	byCluster	.	hmmpanther:PTHR11984:SF33,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	CM030454,rs104893964	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,missense_variant,p.Gly22Glu,ENST00000282561,;	222	85	71	SUCCESS
PHACTR1	221692	.	GRCh37	6	13286433	13286433	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	27	105	0	ENST00000332995.7:c.1706A>T	p.Glu569Val	p.E569V	ENST00000332995		569	gAa/gTa	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4523.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGAATTGA	NONE	.	.	.	.	.	ENSP00000475727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000606214	Transcript	.	.	ENSG00000145979	21066	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBCD7_HUMAN	TBC1D7	HGNC	U3KQ23_HUMAN,Q5SZM2_HUMAN,Q5SZM1_HUMAN,Q5SZL8_HUMAN,Q5SZL4_HUMAN	.	UPI0000073B32	SNV	PHACTR1,missense_variant,p.Glu404Val,ENST00000415087,;PHACTR1,missense_variant,p.Glu133Val,ENST00000379335,;PHACTR1,missense_variant,p.Glu569Val,ENST00000332995,;PHACTR1,missense_variant,p.Glu424Val,ENST00000457702,;TBC1D7,intron_variant,,ENST00000606214,;PHACTR1,downstream_gene_variant,,ENST00000379329,;RP1-257A7.5,downstream_gene_variant,,ENST00000606393,;RP1-257A7.4,intron_variant,,ENST00000606150,;RP1-257A7.4,upstream_gene_variant,,ENST00000399446,;PHACTR1,downstream_gene_variant,,ENST00000489548,;PHACTR1,downstream_gene_variant,,ENST00000481706,;TBC1D7,intron_variant,,ENST00000421203,;	.	105	128	SUCCESS
NHSL1	57224	.	GRCh37	6	138817433	138817433	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	55	149	0	ENST00000427025.2:c.278T>C	p.Phe93Ser	p.F93S	ENST00000427025	NM_020464.1	93	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS55063.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAACACA	NONE	.	.	hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3	.	.	ENSP00000394546	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000427025	Transcript	.	.	ENSG00000135540	21021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NHSL1_HUMAN	NHSL1	HGNC	B4DS58_HUMAN	.	UPI0001750345	SNV	NHSL1,missense_variant,p.Phe45Ser,ENST00000343505,;NHSL1,missense_variant,p.Phe93Ser,ENST00000427025,;NHSL1,missense_variant,p.Phe58Ser,ENST00000491526,;NHSL1,missense_variant,p.Phe46Ser,ENST00000533765,;NHSL1,missense_variant,p.Phe31Ser,ENST00000342260,;NHSL1,non_coding_transcript_exon_variant,,ENST00000479393,;NHSL1,non_coding_transcript_exon_variant,,ENST00000426841,;	907	149	167	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33410881	33410881	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	117	0	ENST00000418600.2:c.2552C>T	p.Pro851Leu	p.P851L	ENST00000418600	NM_006772.2	851	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS34434.2	2552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCTGGTG	NONE	.	.	hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Pfam_domain:PF12004	.	.	ENSP00000403636	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000418600	Transcript	.	.	ENSG00000197283	11497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.11)	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,missense_variant,p.Pro792Leu,ENST00000428982,;SYNGAP1,missense_variant,p.Pro851Leu,ENST00000418600,;SYNGAP1,missense_variant,p.Pro851Leu,ENST00000293748,;SYNGAP1,missense_variant,p.Pro837Leu,ENST00000449372,;MIR5004,downstream_gene_variant,,ENST00000579078,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000486399,;SYNGAP1,downstream_gene_variant,,ENST00000495633,;SYNGAP1,upstream_gene_variant,,ENST00000470232,;SYNGAP1,downstream_gene_variant,,ENST00000479510,;	2653	117	90	SUCCESS
MTCH1	23787	.	GRCh37	6	36937832	36937832	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	54	156	0	ENST00000373627.5:c.1081A>C	p.Lys361Gln	p.K361Q	ENST00000373627	NM_001271641.1	361	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS4828.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTTCCAGC	NONE	.	.	hmmpanther:PTHR10780,hmmpanther:PTHR10780:SF3,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000362718	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000373616	Transcript	.	.	ENSG00000137409	17586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	tolerated(0.34)	.	MTCH1_HUMAN	MTCH1	HGNC	A8YXX5_HUMAN	.	UPI000006FD55	SNV	MTCH1,missense_variant,p.Lys361Gln,ENST00000373627,;MTCH1,missense_variant,p.Lys188Gln,ENST00000538808,;MTCH1,missense_variant,p.Lys328Gln,ENST00000460219,;MTCH1,missense_variant,p.Lys344Gln,ENST00000373616,;MTCH1,missense_variant,p.Lys175Gln,ENST00000418541,;MTCH1,non_coding_transcript_exon_variant,,ENST00000492754,;MTCH1,non_coding_transcript_exon_variant,,ENST00000471737,;	1155	156	167	SUCCESS
FGD2	221472	.	GRCh37	6	36993582	36993582	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746559721	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	104	0	ENST00000274963.8:c.1473G>T	p.Arg491Ser	p.R491S	ENST00000274963	NM_173558.3	491	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4829.1	1473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGTGCTC	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF82,Gene3D:3.30.40.10,Pfam_domain:PF01363,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000274963	.	14/16	.	.	.	.	.	.	.	.	rs746559721	14/16	PASS	ENST00000274963	Transcript	.	.	ENSG00000146192	3664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.639)	.	deleterious(0.01)	.	FGD2_HUMAN	FGD2	HGNC	.	.	UPI00001A9477	SNV	FGD2,missense_variant,p.Arg491Ser,ENST00000274963,;FGD2,3_prime_UTR_variant,,ENST00000373535,;FGD2,non_coding_transcript_exon_variant,,ENST00000487920,;FGD2,non_coding_transcript_exon_variant,,ENST00000494343,;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,;FGD2,non_coding_transcript_exon_variant,,ENST00000493635,;	1644	104	82	SUCCESS
EYS	346007	.	GRCh37	6	66063431	66063431	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	256	37	305	0	ENST00000370616.2:c.1379A>C	p.Tyr460Ser	p.Y460S	ENST00000370616		460	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS47445.1	1379	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTAGCAG	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	9/43	.	.	.	.	.	.	.	.	.	9/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.038)	.	tolerated(0.37)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Tyr460Ser,ENST00000342421,;EYS,missense_variant,p.Tyr460Ser,ENST00000393380,;EYS,missense_variant,p.Tyr460Ser,ENST00000370616,;EYS,missense_variant,p.Tyr460Ser,ENST00000370618,;EYS,missense_variant,p.Tyr460Ser,ENST00000370621,;EYS,missense_variant,p.Tyr460Ser,ENST00000503581,;	1917	305	294	SUCCESS
KHDC1L	100129128	.	GRCh37	6	73935167	73935167	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	44	0	ENST00000370388.3:c.-36G>C		p.*12*	ENST00000370388	NM_001126063.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47450.1	.	MUTECT|MUSE	.	AAAGTCTAACA	NONE	.	.	.	.	.	ENSP00000359415	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370388	Transcript	.	.	ENSG00000256980	37274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KHDCL_HUMAN	KHDC1L	HGNC	.	.	UPI0000070CED	SNV	KHDC1L,5_prime_UTR_variant,,ENST00000370388,;KHDC1L,non_coding_transcript_exon_variant,,ENST00000471312,;RP11-257K9.8,intron_variant,,ENST00000423730,;	9	44	62	SUCCESS
DGKI	9162	.	GRCh37	7	137092670	137092670	+	synonymous_variant	Silent	SNP	G	G	A	rs76989323	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	113	168	0	ENST00000288490.5:c.2895C>T	p.Tyr965=	p.Y965=	ENST00000288490	NM_004717.2	965	taC/taT	0	A:0.0002	A:0	.	A:0	.	A	Y	protein_coding	YES	CCDS5845.1	2895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGTAGTG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	A:0.001	A:0.0002	ENSP00000288490	A:0.002	31/34	.	.	.	.	.	.	.	.	rs76989323	31/34	PASS	ENST00000288490	Transcript	.	A:0.0006	ENSG00000157680	2855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,synonymous_variant,p.%3D,ENST00000288490,;DGKI,synonymous_variant,p.%3D,ENST00000424189,;DGKI,synonymous_variant,p.%3D,ENST00000453654,;DGKI,synonymous_variant,p.%3D,ENST00000446122,;DGKI,non_coding_transcript_exon_variant,,ENST00000494390,;DGKI,non_coding_transcript_exon_variant,,ENST00000497321,;DGKI,intron_variant,,ENST00000477835,;	2896	168	209	SUCCESS
ZNF282	8427	.	GRCh37	7	148895458	148895458	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs760375749	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	40	91	0	ENST00000262085.3:c.199A>C	p.Met67Leu	p.M67L	ENST00000262085	NM_003575.2	67	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS5895.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAATGCCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000262085	.	2/8	.	.	.	.	.	.	.	.	rs760375749	2/8	PASS	ENST00000262085	Transcript	.	.	ENSG00000170265	13076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.19)	.	ZN282_HUMAN	ZNF282	HGNC	Q86YG2_HUMAN	.	UPI000013D255	SNV	ZNF282,missense_variant,p.Met67Leu,ENST00000479907,;ZNF282,missense_variant,p.Met67Leu,ENST00000262085,;	304	91	150	SUCCESS
SDK1	221935	.	GRCh37	7	3658807	3658807	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1247735197	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	16	166	0	ENST00000404826.2:c.394T>C	p.Trp132Arg	p.W132R	ENST00000404826	NM_152744.3	132	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS34590.1	394	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTGGCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	2/45	.	.	.	.	.	.	.	.	.	2/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	tolerated(0.14)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Trp132Arg,ENST00000404826,;SDK1,missense_variant,p.Trp132Arg,ENST00000389531,;	533	166	143	SUCCESS
PKD1L1	168507	.	GRCh37	7	47976458	47976458	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs145116707	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	80	0	ENST00000289672.2:c.383A>T	p.Asp128Val	p.D128V	ENST00000289672	NM_138295.3	128	gAt/gTt	0	C:0.0002	.	.	.	.	A	D/V	protein_coding	YES	CCDS34633.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATCACAA	NONE	byCluster	.	.	.	C:0	ENSP00000289672	.	4/57	.	.	.	.	.	.	.	.	rs145116707	4/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0.03)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Asp128Val,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	434	80	83	SUCCESS
C7orf72	0	.	GRCh37	7	50169362	50169362	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	105	303	0	ENST00000297001.6:c.701A>T	p.Asp234Val	p.D234V	ENST00000297001	NM_001161834.2	234	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS47585.1	701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGACTCAT	NONE	.	.	.	.	.	ENSP00000297001	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000297001	Transcript	.	.	ENSG00000164500	22564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.302)	.	deleterious(0.03)	.	CG072_HUMAN	C7orf72	HGNC	.	.	UPI00001D7424	SNV	C7orf72,missense_variant,p.Asp234Val,ENST00000297001,;	751	303	304	SUCCESS
MAGI2	9863	.	GRCh37	7	77649096	77649097	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TGAA	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	42	0	ENST00000354212.4:c.3900_3903dup	p.Ala1302PhefsTer140	p.A1302Ffs*140	ENST00000354212	NM_012301.3	1301	-/TTCA	0	.	.	.	.	.	TGAA	-/FX	protein_coding	YES	CCDS5594.1	3903-3904	INDELOCATOR*|PINDEL	.	GCAGGCTGAAA	NONE	.	.	.	.	.	ENSP00000346151	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	insertion	MAGI2,frameshift_variant,p.Ala1302PhefsTer140,ENST00000354212,;MAGI2,frameshift_variant,p.Ala1288PhefsTer140,ENST00000419488,;MAGI2,3_prime_UTR_variant,,ENST00000522391,;	4157-4158	42	50	SUCCESS
CACNA2D1	781	.	GRCh37	7	81579781	81579781	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759935042	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	125	0	ENST00000356253.5:c.3239C>A	p.Ser1080Tyr	p.S1080Y	ENST00000356253		1080	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5598.1	3203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGAGGGA	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	39/39	.	.	.	.	.	.	.	.	rs759935042	39/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0.01)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Ser1080Tyr,ENST00000356253,;CACNA2D1,missense_variant,p.Ser1068Tyr,ENST00000356860,;CACNA2D1,missense_variant,p.Ser280Tyr,ENST00000535308,;	3542	126	108	SUCCESS
LRRD1	401387	.	GRCh37	7	91793161	91793162	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-	rs780574940	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	184	36	131	0	ENST00000430130.2:c.1355_1356del	p.Ile452AsnfsTer7	p.I452Nfs*7	ENST00000430130	NM_001161528.1	452	aTA/a	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS55124.1	1355-1356	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGATTATGTTT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF452,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000405987	.	2/6	.	.	.	.	.	.	.	.	rs780574940	2/6	PASS	ENST00000458448	Transcript	.	.	ENSG00000240720	34300	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRD1_HUMAN	LRRD1	HGNC	C9K0I1_HUMAN	.	UPI0001662314	deletion	LRRD1,frameshift_variant,p.Ile452AsnfsTer7,ENST00000458448,;LRRD1,frameshift_variant,p.Ile452AsnfsTer7,ENST00000430130,;LRRD1,5_prime_UTR_variant,,ENST00000454089,;LRRD1,intron_variant,,ENST00000343318,;LRRD1,downstream_gene_variant,,ENST00000437357,;CTB-161K23.1,intron_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;	1556-1557	131	220	SUCCESS
MTSS1	9788	.	GRCh37	8	125565918	125565918	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	41	83	0	ENST00000518547.1:c.1583A>G	p.Tyr528Cys	p.Y528C	ENST00000518547	NM_014751.4	528	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6353.1	1583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATAATCA	NONE	.	.	hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10	.	.	ENSP00000429064	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000518547	Transcript	.	.	ENSG00000170873	20443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.26)	.	MTSS1_HUMAN	MTSS1	HGNC	E5RJX3_HUMAN	.	UPI000019B3D8	SNV	MTSS1,missense_variant,p.Tyr418Cys,ENST00000524090,;MTSS1,missense_variant,p.Tyr246Cys,ENST00000431961,;MTSS1,missense_variant,p.Tyr302Cys,ENST00000395508,;MTSS1,missense_variant,p.Tyr528Cys,ENST00000518547,;MTSS1,missense_variant,p.Tyr503Cys,ENST00000378017,;MTSS1,missense_variant,p.Tyr246Cys,ENST00000354184,;MTSS1,missense_variant,p.Tyr316Cys,ENST00000519168,;MTSS1,missense_variant,p.Tyr532Cys,ENST00000325064,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000523179,;MTSS1,downstream_gene_variant,,ENST00000522118,;NDUFB9,downstream_gene_variant,,ENST00000517367,;NDUFB9,downstream_gene_variant,,ENST00000276689,;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;MTSS1,downstream_gene_variant,,ENST00000520094,;MTSS1,downstream_gene_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;NDUFB9,downstream_gene_variant,,ENST00000518657,;NDUFB9,downstream_gene_variant,,ENST00000524241,;	2057	83	179	SUCCESS
GGH	8836	.	GRCh37	8	63951424	63951424	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs546748531	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	28	0	ENST00000260118.6:c.-97C>T		p.*33*	ENST00000260118	NM_003878.2			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS6177.1	.	MUTECT|MUSE	.	CTCGGGTGGGC	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000260118	C:0	1/9	.	.	.	.	.	.	.	.	rs546748531	1/9	PASS	ENST00000260118	Transcript	1	C:0.0034	ENSG00000137563	4248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.0174	.	.	GGH_HUMAN	GGH	HGNC	.	.	UPI000000127C	SNV	GGH,5_prime_UTR_variant,,ENST00000260118,;GGH,upstream_gene_variant,,ENST00000518966,;GGH,upstream_gene_variant,,ENST00000520609,;GGH,upstream_gene_variant,,ENST00000523788,;	307	28	60	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70594495	70594495	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	245	12	128	0	ENST00000260126.4:c.1706T>C	p.Val569Ala	p.V569A	ENST00000260126	NM_030958.2	569	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6205.1	1706	MUTECT|MUSE	.	CACAGACTGGC	NONE	.	.	PROSITE_profiles:PS50850,PROSITE_profiles:PS51465,hmmpanther:PTHR11388:SF86,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF07648,Gene3D:3.30.60.30,Pfam_domain:PF03137,Superfamily_domains:SSF100895	.	.	ENSP00000260126	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,missense_variant,p.Val514Ala,ENST00000530307,;SLCO5A1,missense_variant,p.Val569Ala,ENST00000524945,;SLCO5A1,missense_variant,p.Val569Ala,ENST00000260126,;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	2413	128	257	SUCCESS
AKNA	80709	.	GRCh37	9	117120428	117120428	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	76	0	ENST00000307564.4:c.2512G>C	p.Val838Leu	p.V838L	ENST00000307564	NM_030767.4	838	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS6805.1	2512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATACCATCT	NONE	.	.	hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510	.	.	ENSP00000303769	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000307564	Transcript	.	.	ENSG00000106948	24108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.29)	.	AKNA_HUMAN	AKNA	HGNC	.	.	UPI000021168C	SNV	AKNA,missense_variant,p.Val838Leu,ENST00000307564,;AKNA,missense_variant,p.Val838Leu,ENST00000374088,;AKNA,missense_variant,p.Val298Leu,ENST00000223791,;AKNA,missense_variant,p.Val757Leu,ENST00000374075,;AKNA,downstream_gene_variant,,ENST00000312033,;AKNA,non_coding_transcript_exon_variant,,ENST00000490767,;	2674	76	73	SUCCESS
NOTCH1	4851	.	GRCh37	9	139393656	139393656	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1196509879	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	62	0	ENST00000277541.6:c.5990C>T	p.Thr1997Met	p.T1997M	ENST00000277541	NM_017617.3	1997	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS43905.1	5990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGTCGTG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24033:SF37,hmmpanther:PTHR24033,Gene3D:1.25.40.20,PIRSF_domain:PIRSF002279,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000277541	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	SNV	NOTCH1,missense_variant,p.Thr1997Met,ENST00000277541,;NOTCH1,downstream_gene_variant,,ENST00000494783,;	6066	62	71	SUCCESS
ABCA2	20	.	GRCh37	9	139917341	139917341	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	112	0	ENST00000341511.6:c.276-24T>G		p.*92*	ENST00000341511	NM_212533.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43909.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCACTGGA	NONE	.	.	.	.	.	ENSP00000344155	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODIFIER	4/48	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,intron_variant,,ENST00000371605,;ABCA2,intron_variant,,ENST00000341511,;ABCA2,intron_variant,,ENST00000265662,;C9orf139,upstream_gene_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000470535,;ABCA2,non_coding_transcript_exon_variant,,ENST00000492260,;ABCA2,intron_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000466707,;ABCA2,upstream_gene_variant,,ENST00000467624,;ABCA2,intron_variant,,ENST00000476211,;ABCA2,intron_variant,,ENST00000459850,;ABCA2,intron_variant,,ENST00000464876,;ABCA2,intron_variant,,ENST00000494046,;ABCA2,intron_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000479446,;ABCA2,upstream_gene_variant,,ENST00000488535,;ABCA2,downstream_gene_variant,,ENST00000425423,;	.	112	108	SUCCESS
PLIN2	123	.	GRCh37	9	19119797	19119797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	94	0	ENST00000276914.2:c.628C>A	p.Leu210Met	p.L210M	ENST00000276914	NM_001122.3	210	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6490.1	628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAGATCAA	NONE	.	.	hmmpanther:PTHR14024,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881,Superfamily_domains:0043810	.	.	ENSP00000276914	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000276914	Transcript	.	.	ENSG00000147872	248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	PLIN2_HUMAN	PLIN2	HGNC	Q6FHZ7_HUMAN,Q5SYF5_HUMAN,B4DJK9_HUMAN	.	UPI0000125535	SNV	PLIN2,missense_variant,p.Leu210Met,ENST00000276914,;PLIN2,synonymous_variant,p.%3D,ENST00000411567,;PLIN2,downstream_gene_variant,,ENST00000380465,;PLIN2,downstream_gene_variant,,ENST00000380464,;PLIN2,downstream_gene_variant,,ENST00000434144,;PLIN2,upstream_gene_variant,,ENST00000464326,;	808	94	84	SUCCESS
IFNA16	3449	.	GRCh37	9	21217149	21217149	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	74	185	0	ENST00000380216.1:c.156C>T	p.Cys52=	p.C52=	ENST00000380216	NM_002173.2	52	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS34996.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGCAGGA	NONE	.	.	hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,Pfam_domain:PF00143,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266,Prints_domain:PR00266	.	.	ENSP00000369564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380216	Transcript	.	.	ENSG00000147885	5421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFN16_HUMAN	IFNA16	HGNC	Q9UMJ2_HUMAN	.	UPI0000047763	SNV	IFNA16,synonymous_variant,p.%3D,ENST00000380216,;	162	185	198	SUCCESS
IFNA2	3440	.	GRCh37	9	21385205	21385205	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	115	0	ENST00000380206.2:c.124G>T	p.Ala42Ser	p.A42S	ENST00000380206	NM_000605.3	42	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6506.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCCAGGA	NONE	.	.	hmmpanther:PTHR11691:SF24,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,Superfamily_domains:SSF47266	.	.	ENSP00000369554	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380206	Transcript	.	.	ENSG00000188379	5423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	tolerated(0.29)	.	IFNA2_HUMAN	IFNA2	HGNC	Q6DJX8_HUMAN,Q16054_HUMAN	.	UPI0000034B3A	SNV	IFNA2,missense_variant,p.Ala42Ser,ENST00000380206,;	192	115	98	SUCCESS
DOCK8	81704	.	GRCh37	9	446496	446496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	62	116	1	ENST00000432829.2:c.5503G>T	p.Gly1835Trp	p.G1835W	ENST00000432829	NM_203447.3	1835	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS6440.2	5707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGGGCGG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Pfam_domain:PF06920	.	.	ENSP00000408464	.	44/48	.	.	.	.	.	.	.	.	.	44/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Gly1835Trp,ENST00000432829,;DOCK8,missense_variant,p.Gly1903Trp,ENST00000453981,;DOCK8,missense_variant,p.Gly1803Trp,ENST00000469391,;DOCK8,missense_variant,p.Gly1370Trp,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	5819	117	134	SUCCESS
PCSK5	5125	.	GRCh37	9	78942937	78942937	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774099593	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	41	100	1	ENST00000545128.1:c.4271C>A	p.Ser1424Tyr	p.S1424Y	ENST00000545128	NM_001190482.1	1424	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS55320.1	4271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCTGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,Gene3D:2.10.220.10,SMART_domains:SM00261,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000446280	.	32/37	.	.	.	.	.	.	.	.	rs774099593	32/37	PASS	ENST00000545128	Transcript	.	.	ENSG00000099139	8747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.316)	.	deleterious(0.03)	.	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,missense_variant,p.Ser1124Tyr,ENST00000424854,;PCSK5,missense_variant,p.Ser1424Tyr,ENST00000545128,;	4809	101	129	SUCCESS
CDC14B	8555	.	GRCh37	9	99296248	99296248	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	73	248	0	ENST00000375241.1:c.907T>C	p.Cys303Arg	p.C303R	ENST00000375241	NM_003671.3	303	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS6722.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGATAT	NONE	.	.	Superfamily_domains:SSF52799,SMART_domains:SM00195,SMART_domains:SM00404,Pfam_domain:PF00782,Gene3D:3.90.190.10,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF53,PROSITE_profiles:PS50054,PROSITE_profiles:PS50056	.	.	ENSP00000364389	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000375241	Transcript	.	.	ENSG00000081377	1719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CC14B_HUMAN	CDC14B	HGNC	.	.	UPI0000072924	SNV	CDC14B,missense_variant,p.Cys266Arg,ENST00000375242,;CDC14B,missense_variant,p.Cys303Arg,ENST00000265659,;CDC14B,missense_variant,p.Cys303Arg,ENST00000463569,;CDC14B,missense_variant,p.Cys303Arg,ENST00000375240,;CDC14B,missense_variant,p.Cys303Arg,ENST00000375236,;CDC14B,missense_variant,p.Cys303Arg,ENST00000375241,;CDC14B,downstream_gene_variant,,ENST00000452280,;CDC14B,downstream_gene_variant,,ENST00000415608,;CDC14B,downstream_gene_variant,,ENST00000480920,;CDC14B,missense_variant,p.Cys298Arg,ENST00000412285,;CDC14B,missense_variant,p.Cys303Arg,ENST00000474602,;	1359	248	225	SUCCESS
ARMCX3	51566	.	GRCh37	X	100880947	100880947	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	130	173	0	ENST00000341189.4:c.978T>G	p.Asn326Lys	p.N326K	ENST00000341189	NM_016607.3	326	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS14489.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATCAATT	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF8,Pfam_domain:PF04826	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.61)	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	SNV	ARMCX3,missense_variant,p.Asn326Lys,ENST00000471229,;ARMCX3,missense_variant,p.Asn326Lys,ENST00000341189,;ARMCX3,missense_variant,p.Asn326Lys,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3,downstream_gene_variant,,ENST00000491568,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	1844	173	180	SUCCESS
TCEANC	170082	.	GRCh37	X	13681525	13681525	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	96	140	1	ENST00000380600.1:c.898T>C	p.Cys300Arg	p.C300R	ENST00000380600		300	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS48081.1	988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCTGTGAG	NONE	.	.	Superfamily_domains:SSF57783,PIRSF_domain:PIRSF006704,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF7	.	.	ENSP00000313886	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314720	Transcript	.	.	ENSG00000176896	28277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TEANC_HUMAN	TCEANC	HGNC	.	.	UPI0001596C51	SNV	TCEANC,missense_variant,p.Cys300Arg,ENST00000545566,;TCEANC,missense_variant,p.Cys300Arg,ENST00000380600,;TCEANC,missense_variant,p.Cys330Arg,ENST00000314720,;TCEANC,missense_variant,p.Cys300Arg,ENST00000544987,;TCEANC,non_coding_transcript_exon_variant,,ENST00000490617,;TCEANC,upstream_gene_variant,,ENST00000463321,;TCEANC,missense_variant,p.Cys222Arg,ENST00000467590,;	1233	141	137	SUCCESS
VBP1	7411	.	GRCh37	X	154456663	154456663	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	rs1338411895	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	30	37	0	ENST00000286428.5:c.286-3A>T		p.X96_splice	ENST00000286428	NM_003372.5	96		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14765.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGAAGGAG	NONE	.	.	.	.	.	ENSP00000286428	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286428	Transcript	.	.	ENSG00000155959	12662	.	.	LOW	3/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PFD3_HUMAN	VBP1	HGNC	.	.	UPI00001AEAE3	SNV	VBP1,splice_region_variant,,ENST00000535916,;VBP1,splice_region_variant,,ENST00000286428,;VBP1,splice_region_variant,,ENST00000460509,;	.	37	49	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20185787	20185787	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	128	184	0	ENST00000379565.3:c.1522C>G	p.Gln508Glu	p.Q508E	ENST00000379565	NM_004586.2	508	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS14197.1	1522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGTCTAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	17/22	.	.	.	.	.	.	.	.	COSM307550	17/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.583)	.	tolerated(0.1)	1	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Gln478Glu,ENST00000379548,;RPS6KA3,missense_variant,p.Gln508Glu,ENST00000379565,;RPS6KA3,missense_variant,p.Gln479Glu,ENST00000540702,;RPS6KA3,missense_variant,p.Gln480Glu,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000479809,;	1730	184	191	SUCCESS
PCDH19	57526	.	GRCh37	X	99596912	99596912	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	49	0	ENST00000373034.4:c.2837T>G	p.Met946Arg	p.M946R	ENST00000373034	NM_001184880.1	946	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS55462.1	2837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCATCTGA	NONE	.	.	.	.	.	ENSP00000362125	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000373034	Transcript	.	.	ENSG00000165194	14270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.53)	.	PCD19_HUMAN	PCDH19	HGNC	.	.	UPI00001D7BCD	SNV	PCDH19,missense_variant,p.Met898Arg,ENST00000420881,;PCDH19,missense_variant,p.Met899Arg,ENST00000255531,;PCDH19,missense_variant,p.Met946Arg,ENST00000373034,;	4513	49	60	SUCCESS
FGF8	2253	.	GRCh37	10	103530257	103530257	+	synonymous_variant	Silent	SNP	G	G	A	rs748783357	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	90	0	ENST00000344255.3:c.531C>T	p.Pro177=	p.P177=	ENST00000344255		177	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7516.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCGGGGCCG	NONE	.	.	Superfamily_domains:SSF50353,SMART_domains:SM00442,Pfam_domain:PF00167,Gene3D:2.80.10.50,hmmpanther:PTHR11486:SF3,hmmpanther:PTHR11486	.	.	ENSP00000321797	.	6/6	.	.	.	.	.	.	.	.	rs748783357	6/6	PASS	ENST00000320185	Transcript	1	.	ENSG00000107831	3686	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF8_HUMAN	FGF8	HGNC	.	.	UPI000002A991	SNV	FGF8,synonymous_variant,p.%3D,ENST00000344255,;FGF8,synonymous_variant,p.%3D,ENST00000346714,;FGF8,synonymous_variant,p.%3D,ENST00000347978,;FGF8,synonymous_variant,p.%3D,ENST00000320185,;FGF8,non_coding_transcript_exon_variant,,ENST00000485728,;FGF8,3_prime_UTR_variant,,ENST00000469792,;	623	90	84	SUCCESS
DOCK1	1793	.	GRCh37	10	128860039	128860039	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	52	0	ENST00000280333.6:c.2381A>C	p.Lys794Thr	p.K794T	ENST00000280333	NM_001380.3	794	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	.	2381	MUTECT|MUSE	.	GGTGAAGGTGA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371	.	.	ENSP00000280333	.	23/52	.	.	.	.	.	.	.	.	.	23/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.403)	.	deleterious(0)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Lys794Thr,ENST00000280333,;	2490	52	55	SUCCESS
FAM188A	0	.	GRCh37	10	15875655	15875655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	34	287	0	ENST00000277632.3:c.704A>G	p.Asp235Gly	p.D235G	ENST00000277632	NM_024948.2	235	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7110.1	704	RADIA|MUTECT|MUSE|VARSCANS	.	CACCATCCCAT	NONE	.	.	hmmpanther:PTHR12473,Pfam_domain:PF13898	.	.	ENSP00000277632	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000277632	Transcript	.	.	ENSG00000148481	23578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F188A_HUMAN	FAM188A	HGNC	.	.	UPI000006E7F1	SNV	FAM188A,missense_variant,p.Asp88Gly,ENST00000436829,;FAM188A,missense_variant,p.Asp235Gly,ENST00000277632,;FAM188A,missense_variant,p.Asp75Gly,ENST00000418767,;FAM188A,non_coding_transcript_exon_variant,,ENST00000477891,;	925	287	218	SUCCESS
PARD3	56288	.	GRCh37	10	34690773	34690773	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	81	1	ENST00000374789.3:c.787A>G	p.Ile263Val	p.I263V	ENST00000374789	NM_019619.3	263	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7178.1	787	MUTECT|MUSE	.	GGGTATATGCT	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000363921	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.4)	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,missense_variant,p.Ile219Val,ENST00000545260,;PARD3,missense_variant,p.Ile263Val,ENST00000545693,;PARD3,missense_variant,p.Ile263Val,ENST00000374788,;PARD3,missense_variant,p.Ile263Val,ENST00000340077,;PARD3,missense_variant,p.Ile219Val,ENST00000374790,;PARD3,missense_variant,p.Ile263Val,ENST00000374776,;PARD3,missense_variant,p.Ile263Val,ENST00000374773,;PARD3,missense_variant,p.Ile219Val,ENST00000374794,;PARD3,missense_variant,p.Ile263Val,ENST00000350537,;PARD3,missense_variant,p.Ile263Val,ENST00000374789,;PARD3,missense_variant,p.Ile263Val,ENST00000346874,;PARD3,5_prime_UTR_variant,,ENST00000544292,;	1113	82	90	SUCCESS
ZNF37BP	100129482	.	GRCh37	10	43014775	43014775	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	18	0	ENST00000452075.3:n.2820A>G		p.*940*	ENST00000452075				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGTGTCTT	NONE	.	.	.	.	.	.	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000452075	Transcript	.	.	ENSG00000234420	13103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF37BP	HGNC	.	.	.	SNV	ZNF37BP,non_coding_transcript_exon_variant,,ENST00000452075,;ZNF37BP,downstream_gene_variant,,ENST00000473592,;ZNF37BP,downstream_gene_variant,,ENST00000435805,;ZNF37BP,downstream_gene_variant,,ENST00000452306,;	2820	18	19	SUCCESS
PCDH15	65217	.	GRCh37	10	55663063	55663063	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	47	0	ENST00000320301.6:c.3441A>C	p.Lys1147Asn	p.K1147N	ENST00000320301	NM_033056.3	1147	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS44404.1	3441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAATTTTTT	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	26/34	.	.	.	.	.	.	.	.	COSM1638593,COSM1638594,COSM1638596,COSM1638595	26/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	benign(0.12)	.	tolerated(0.15)	1,1,1,1	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Lys1076Asn,ENST00000437009,;PCDH15,missense_variant,p.Lys1125Asn,ENST00000395433,;PCDH15,missense_variant,p.Lys1154Asn,ENST00000395445,;PCDH15,missense_variant,p.Lys1147Asn,ENST00000320301,;PCDH15,missense_variant,p.Lys758Asn,ENST00000409834,;PCDH15,missense_variant,p.Lys1110Asn,ENST00000395432,;PCDH15,missense_variant,p.Lys1147Asn,ENST00000361849,;PCDH15,missense_variant,p.Lys1147Asn,ENST00000395438,;PCDH15,missense_variant,p.Lys1152Asn,ENST00000414778,;PCDH15,missense_variant,p.Lys1147Asn,ENST00000395430,;PCDH15,missense_variant,p.Lys1154Asn,ENST00000373965,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	3836	47	55	SUCCESS
TET1	80312	.	GRCh37	10	70426952	70426952	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	95	0	ENST00000373644.4:c.4612A>C	p.Thr1538Pro	p.T1538P	ENST00000373644	NM_030625.2	1538	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS7281.1	4612	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCACAGAG	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2	.	.	ENSP00000362748	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Thr1538Pro,ENST00000373644,;	4821	95	109	SUCCESS
VCL	7414	.	GRCh37	10	75842271	75842271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	71	0	ENST00000211998.4:c.843A>T	p.Lys281Asn	p.K281N	ENST00000211998	NM_014000.2	281	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7341.1	843	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAAGGTTG	NONE	.	.	hmmpanther:PTHR18914:SF22,hmmpanther:PTHR18914,PROSITE_patterns:PS00664,Pfam_domain:PF01044,Superfamily_domains:SSF47220	.	.	ENSP00000211998	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000211998	Transcript	1	.	ENSG00000035403	12665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	VINC_HUMAN	VCL	HGNC	Q5JQ13_HUMAN	.	UPI0000167B54	SNV	VCL,missense_variant,p.Lys281Asn,ENST00000211998,;VCL,missense_variant,p.Lys281Asn,ENST00000372755,;VCL,intron_variant,,ENST00000417648,;VCL,upstream_gene_variant,,ENST00000436396,;VCL,intron_variant,,ENST00000478896,;	937	71	75	SUCCESS
FAM213A	0	.	GRCh37	10	82187098	82187098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	72	0	ENST00000372181.1:c.422A>G	p.Tyr141Cys	p.Y141C	ENST00000372181	NM_001243782.1	141	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7368.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTATGGTC	BUFFER|p.F140L|c.420C>A|3	.	.	Pfam_domain:PF13911	.	.	ENSP00000361254	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000372181	Transcript	.	.	ENSG00000122378	28651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	F213A_HUMAN	FAM213A	HGNC	.	.	UPI0000049E00	SNV	FAM213A,missense_variant,p.Tyr141Cys,ENST00000372181,;FAM213A,missense_variant,p.Tyr130Cys,ENST00000372185,;FAM213A,missense_variant,p.Tyr141Cys,ENST00000372187,;FAM213A,missense_variant,p.Tyr141Cys,ENST00000372188,;	892	72	72	SUCCESS
R3HCC1L	27291	.	GRCh37	10	99991445	99991445	+	splice_donor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	95	0	ENST00000298999.3:c.1961+1G>A		p.X654_splice	ENST00000298999	NM_014472.4	654		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31267.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCAGTGAGT	NONE	.	.	.	.	.	ENSP00000298999	.	.	.	.	.	.	.	.	.	.	COSM922100	.	PASS	ENST00000298999	Transcript	.	.	ENSG00000166024	23512	.	.	HIGH	6/9	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	R3HCL_HUMAN	R3HCC1L	HGNC	.	.	UPI00001F94F0	SNV	R3HCC1L,splice_donor_variant,,ENST00000314594,;R3HCC1L,splice_donor_variant,,ENST00000298999,;R3HCC1L,splice_donor_variant,,ENST00000370586,;R3HCC1L,splice_donor_variant,,ENST00000370584,;	.	96	64	SUCCESS
KIAA1377	0	.	GRCh37	11	101793445	101793445	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs757264461	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	26	213	0	ENST00000263468.8:c.202C>T	p.Arg68Ter	p.R68*	ENST00000263468	NM_020802.2	68	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS31658.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTCGAAAT	SITE|p.R68*|c.202C>T|4,BUFFER|p.R68Q|c.203G>A|5	byFrequency	.	hmmpanther:PTHR31191	.	.	ENSP00000263468	.	2/11	.	.	.	.	.	.	.	.	rs757264461,COSM50885	2/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,stop_gained,p.Arg68Ter,ENST00000263468,;	472	213	130	SUCCESS
SORL1	6653	.	GRCh37	11	121360805	121360805	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	83	0	ENST00000260197.7:c.744C>G	p.Val248=	p.V248=	ENST00000260197	NM_003105.5	248	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS8436.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCAAGTC	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000260197	.	5/48	.	.	.	.	.	.	.	.	.	5/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,synonymous_variant,p.%3D,ENST00000260197,;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	873	83	76	SUCCESS
FOXRED1	55572	.	GRCh37	11	126143301	126143301	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	52	0	ENST00000263578.5:c.488C>G	p.Ala163Gly	p.A163G	ENST00000263578	NM_017547.3	163	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS8471.1	488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGCTTCAG	NONE	.	.	Superfamily_domains:SSF51905,Pfam_domain:PF01266,Gene3D:3.30.9.10,hmmpanther:PTHR13847:SF161,hmmpanther:PTHR13847	.	.	ENSP00000263578	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000263578	Transcript	.	.	ENSG00000110074	26927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	FXRD1_HUMAN	FOXRED1	HGNC	B4DXM1_HUMAN,B4DQI0_HUMAN	.	UPI0000037C04	SNV	FOXRED1,missense_variant,p.Ala149Gly,ENST00000532125,;FOXRED1,missense_variant,p.Ala163Gly,ENST00000263578,;FOXRED1,5_prime_UTR_variant,,ENST00000442061,;SRPR,upstream_gene_variant,,ENST00000532259,;SRPR,upstream_gene_variant,,ENST00000332118,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534011,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000526366,;FOXRED1,intron_variant,,ENST00000533839,;SRPR,upstream_gene_variant,,ENST00000530680,;FOXRED1,missense_variant,p.Ala162Gly,ENST00000527004,;FOXRED1,3_prime_UTR_variant,,ENST00000525770,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000533395,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000527875,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000525083,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000532101,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534315,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000531257,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000524751,;FOXRED1,downstream_gene_variant,,ENST00000526525,;FOXRED1,downstream_gene_variant,,ENST00000529802,;FOXRED1,upstream_gene_variant,,ENST00000532590,;SRPR,upstream_gene_variant,,ENST00000528744,;FOXRED1,upstream_gene_variant,,ENST00000530642,;RPL35AP26,downstream_gene_variant,,ENST00000476981,;	562	52	55	SUCCESS
RP11-707M1.1	0	.	GRCh37	11	49598204	49598204	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1466948522	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	108	0	ENST00000527477.1:n.808C>T		p.*270*	ENST00000527477				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCCTTCT	NONE	.	.	.	.	.	.	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000527477	Transcript	.	.	ENSG00000205035	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-707M1.1	Clone_based_vega_gene	.	.	.	SNV	RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000527477,;RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000534201,;RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000530858,;	808	108	78	SUCCESS
OR5M1	390168	.	GRCh37	11	56380101	56380101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs376562056	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	39	233	1	ENST00000526538.1:c.878G>C	p.Arg293Pro	p.R293P	ENST00000526538	NM_001004740.1	293	cGg/cCg	0	T:0.0003	.	.	.	.	G	R/P	protein_coding	YES	CCDS53631.1	878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCGTAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	T:0	ENSP00000435416	.	1/1	.	.	.	.	.	.	.	.	rs376562056,COSM3397853	1/1	PASS	ENST00000526538	Transcript	.	.	ENSG00000255012	8352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.901)	.	deleterious(0)	0,1	OR5M1_HUMAN	OR5M1	HGNC	.	.	UPI0000041C9B	SNV	OR5M1,missense_variant,p.Arg293Pro,ENST00000526538,;	878	234	164	SUCCESS
MS4A4A	51338	.	GRCh37	11	60059725	60059725	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	134	0	ENST00000337908.4:c.69G>A	p.Met23Ile	p.M23I	ENST00000337908	NM_148975.2	23	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7982.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGCAAGG	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF35	.	.	ENSP00000338648	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000337908	Transcript	.	.	ENSG00000110079	13371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.44)	.	M4A4A_HUMAN	MS4A4A	HGNC	.	.	UPI0000055AE7	SNV	MS4A4A,missense_variant,p.Met23Ile,ENST00000532114,;MS4A4A,missense_variant,p.Met4Ile,ENST00000395016,;MS4A4A,missense_variant,p.Met4Ile,ENST00000355131,;MS4A4A,missense_variant,p.Met23Ile,ENST00000337908,;MS4A4A,3_prime_UTR_variant,,ENST00000343968,;MS4A4A,3_prime_UTR_variant,,ENST00000529950,;MS4A4A,3_prime_UTR_variant,,ENST00000527056,;	159	134	84	SUCCESS
UHRF1BP1L	23074	.	GRCh37	12	100453094	100453094	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759923388	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	95	0	ENST00000279907.7:c.1961A>G	p.His654Arg	p.H654R	ENST00000279907	NM_015054.1	654	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS31882.1	1961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGATGTAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	.	.	ENSP00000279907	.	14/21	.	.	.	.	.	.	.	.	rs759923388	14/21	PASS	ENST00000279907	Transcript	.	.	ENSG00000111647	29102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	UH1BL_HUMAN	UHRF1BP1L	HGNC	F8W665_HUMAN,F8VWX2_HUMAN	.	UPI0000160563	SNV	UHRF1BP1L,missense_variant,p.His304Arg,ENST00000545232,;UHRF1BP1L,missense_variant,p.His654Arg,ENST00000279907,;	2174	95	71	SUCCESS
ARID2	196528	.	GRCh37	12	46233237	46233237	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs370535448	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	120	0	ENST00000334344.6:c.1456A>G	p.Ile486Val	p.I486V	ENST00000334344	NM_152641.2	486	Ata/Gta	0	G:0.0005	.	.	.	.	G	I/V	protein_coding	YES	CCDS31783.1	1456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTATAGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	G:0	ENSP00000335044	.	11/21	.	.	.	.	.	.	.	.	rs370535448	11/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Ile486Val,ENST00000334344,;ARID2,missense_variant,p.Ile96Val,ENST00000444670,;ARID2,missense_variant,p.Ile337Val,ENST00000422737,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,non_coding_transcript_exon_variant,,ENST00000480128,;	1628	120	87	SUCCESS
LRP1	4035	.	GRCh37	12	57594316	57594316	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	28	158	1	ENST00000243077.3:c.10106G>T	p.Cys3369Phe	p.C3369F	ENST00000243077	NM_002332.2	3369	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS8932.1	10106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTGCCGTG	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000243077	.	63/89	.	.	.	.	.	.	.	.	.	63/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Cys3369Phe,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000555124,;LRP1,splice_region_variant,,ENST00000555941,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000556356,;LRP1,upstream_gene_variant,,ENST00000451724,;	10572	159	156	SUCCESS
ANO2	57101	.	GRCh37	12	5853336	5853336	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	80	0	ENST00000356134.5:c.1329C>T	p.Phe443=	p.F443=	ENST00000356134		443	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	.	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATGAAGAT	NONE	.	.	hmmpanther:PTHR12308:SF20,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000314048	.	12/26	.	.	.	.	.	.	.	.	COSM1512780,COSM1512779	12/26	PASS	ENST00000327087	Transcript	.	.	ENSG00000047617	1183	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ANO2_HUMAN	ANO2	HGNC	Q69YW4_HUMAN	.	UPI0001823FDD	SNV	ANO2,synonymous_variant,p.%3D,ENST00000327087,;ANO2,synonymous_variant,p.%3D,ENST00000546188,;ANO2,synonymous_variant,p.%3D,ENST00000356134,;ANO2,upstream_gene_variant,,ENST00000545860,;ANO2,upstream_gene_variant,,ENST00000540543,;ANO2,upstream_gene_variant,,ENST00000538154,;	1398	80	79	SUCCESS
BIVM	54841	.	GRCh37	13	103474471	103474471	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	84	1	ENST00000257336.1:c.863A>G	p.Tyr288Cys	p.Y288C	ENST00000257336	NM_017693.3	288	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATATAAGC	NONE	.	.	hmmpanther:PTHR16171	.	.	ENSP00000473384	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000602836	Transcript	.	.	ENSG00000270181	43690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious_low_confidence(0)	.	.	BIVM-ERCC5	HGNC	.	.	UPI0002B83330	SNV	BIVM-ERCC5,missense_variant,p.Tyr260Cys,ENST00000602836,;BIVM,missense_variant,p.Tyr59Cys,ENST00000448849,;BIVM,missense_variant,p.Tyr288Cys,ENST00000257336,;BIVM,missense_variant,p.Tyr288Cys,ENST00000419638,;RNY5P8,downstream_gene_variant,,ENST00000410369,;BIVM,non_coding_transcript_exon_variant,,ENST00000490317,;	777	85	87	SUCCESS
FRY	10129	.	GRCh37	13	32698496	32698496	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	3	107	0	ENST00000380250.3:c.538A>G	p.Ile180Val	p.I180V	ENST00000380250	NM_023037.2	180	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41875.1	538	MUTECT|MUSE	.	TATTAATAGAA	NONE	.	.	Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	.	.	ENSP00000369600	.	5/61	.	.	.	.	.	.	.	.	.	5/61	PASS	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.268)	.	tolerated(0.22)	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,missense_variant,p.Ile180Val,ENST00000380250,;	1034	107	71	SUCCESS
DCLK1	9201	.	GRCh37	13	36410249	36410249	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	107	0	ENST00000360631.3:c.1150G>C	p.Ala384Pro	p.A384P	ENST00000360631		384	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS9354.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGCTGGAA	NONE	.	.	Superfamily_domains:SSF56112,hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347	.	.	ENSP00000255448	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.455)	.	tolerated(0.22)	.	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,missense_variant,p.Ala384Pro,ENST00000360631,;DCLK1,missense_variant,p.Ala77Pro,ENST00000379893,;DCLK1,missense_variant,p.Ala384Pro,ENST00000255448,;	1362	107	59	SUCCESS
CYSLTR2	57105	.	GRCh37	13	49281602	49281602	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	33	0	ENST00000282018.3:c.649C>G	p.Leu217Val	p.L217V	ENST00000282018	NM_020377.2	217	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS9412.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACTCAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF10,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000282018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000282018	Transcript	.	.	ENSG00000152207	18274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	deleterious(0.01)	.	CLTR2_HUMAN	CYSLTR2	HGNC	Q5KU17_HUMAN	.	UPI000003BCCC	SNV	CYSLTR2,missense_variant,p.Leu217Val,ENST00000282018,;	652	33	49	SUCCESS
OLFM4	10562	.	GRCh37	13	53624695	53624695	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	90	0	ENST00000219022.2:c.1322A>C	p.Tyr441Ser	p.Y441S	ENST00000219022	NM_006418.4	441	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS9440.1	1322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTATGCCA	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:0046203	.	.	ENSP00000219022	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000219022	Transcript	.	.	ENSG00000102837	17190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OLFM4_HUMAN	OLFM4	HGNC	.	.	UPI00000359F0	SNV	OLFM4,missense_variant,p.Tyr441Ser,ENST00000219022,;	1400	90	71	SUCCESS
TGDS	23483	.	GRCh37	13	95235445	95235445	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	64	0	ENST00000261296.5:c.359A>G	p.Tyr120Cys	p.Y120C	ENST00000261296	NM_014305.2	120	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9471.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATAAACA	NONE	.	.	Superfamily_domains:SSF51735,Pfam_domain:PF01370,Gene3D:3.40.50.720,hmmpanther:PTHR10366:SF41,hmmpanther:PTHR10366	.	.	ENSP00000261296	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000261296	Transcript	.	.	ENSG00000088451	20324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.04)	.	TGDS_HUMAN	TGDS	HGNC	Q2TU31_HUMAN	.	UPI000006E8F4	SNV	TGDS,missense_variant,p.Tyr120Cys,ENST00000261296,;TGDS,non_coding_transcript_exon_variant,,ENST00000498294,;TGDS,upstream_gene_variant,,ENST00000470480,;	480	64	70	SUCCESS
HSP90AA1	3320	.	GRCh37	14	102552400	102552400	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	76	0	ENST00000216281.8:c.224A>T	p.Glu75Val	p.E75V	ENST00000216281	NM_005348.3	75	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS32160.1	590	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTCTTTC	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF02518,Gene3D:3.30.565.10,PIRSF_domain:PIRSF002583,SMART_domains:SM00387,Superfamily_domains:SSF55874	.	.	ENSP00000335153	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.665)	.	deleterious_low_confidence(0)	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	SNV	HSP90AA1,missense_variant,p.Glu197Val,ENST00000334701,;HSP90AA1,missense_variant,p.Glu75Val,ENST00000553585,;HSP90AA1,missense_variant,p.Glu75Val,ENST00000216281,;HSP90AA1,intron_variant,,ENST00000441629,;HSP90AA1,3_prime_UTR_variant,,ENST00000557234,;HSP90AA1,non_coding_transcript_exon_variant,,ENST00000556554,;HSP90AA1,intron_variant,,ENST00000554401,;HSP90AA1,upstream_gene_variant,,ENST00000555662,;HSP90AA1,upstream_gene_variant,,ENST00000560130,;HSP90AA1,upstream_gene_variant,,ENST00000557089,;	872	76	64	SUCCESS
TOX4	9878	.	GRCh37	14	21964732	21964732	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	74	0	ENST00000448790.2:c.1765A>G	p.Arg589Gly	p.R589G	ENST00000448790		589	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS32043.1	1834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTAGAAAT	NONE	.	.	.	.	.	ENSP00000385102	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000405508	Transcript	.	.	ENSG00000092203	20161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	TOX4_HUMAN	TOX4	HGNC	.	.	UPI000006EA81	SNV	TOX4,missense_variant,p.Arg589Gly,ENST00000448790,;TOX4,missense_variant,p.Arg612Gly,ENST00000262709,;TOX4,missense_variant,p.Arg612Gly,ENST00000405508,;METTL3,downstream_gene_variant,,ENST00000298717,;METTL3,downstream_gene_variant,,ENST00000538267,;TOX4,3_prime_UTR_variant,,ENST00000455393,;TOX4,downstream_gene_variant,,ENST00000463119,;TOX4,downstream_gene_variant,,ENST00000473176,;TOX4,downstream_gene_variant,,ENST00000476180,;METTL3,downstream_gene_variant,,ENST00000544500,;METTL3,downstream_gene_variant,,ENST00000396522,;METTL3,downstream_gene_variant,,ENST00000537163,;METTL3,downstream_gene_variant,,ENST00000543235,;METTL3,downstream_gene_variant,,ENST00000544248,;METTL3,downstream_gene_variant,,ENST00000536201,;METTL3,downstream_gene_variant,,ENST00000539760,;	2110	74	68	SUCCESS
POLR2M	81488	.	GRCh37	15	57998942	57998942	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	74	0	ENST00000299638.3:c.-99G>A		p.*33*	ENST00000299638	NM_015532.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32252.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCGTGCCC	NONE	.	.	.	.	.	ENSP00000299638	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000299638	Transcript	.	.	ENSG00000255529	14862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRL1A_HUMAN	POLR2M	HGNC	E9PP13_HUMAN	.	UPI000000D78C	SNV	POLR2M,5_prime_UTR_variant,,ENST00000299638,;POLR2M,5_prime_UTR_variant,,ENST00000380557,;POLR2M,5_prime_UTR_variant,,ENST00000380563,;GCOM1,intron_variant,,ENST00000380568,;GCOM1,intron_variant,,ENST00000587652,;GCOM1,intron_variant,,ENST00000380569,;GCOM1,downstream_gene_variant,,ENST00000380561,;POLR2M,non_coding_transcript_exon_variant,,ENST00000567643,;GCOM1,intron_variant,,ENST00000484300,;POLR2M,upstream_gene_variant,,ENST00000464308,;GCOM1,3_prime_UTR_variant,,ENST00000468886,;POLR2M,5_prime_UTR_variant,,ENST00000494490,;GCOM1,3_prime_UTR_variant,,ENST00000488175,;GCOM1,3_prime_UTR_variant,,ENST00000496101,;POLR2M,5_prime_UTR_variant,,ENST00000482852,;GCOM1,3_prime_UTR_variant,,ENST00000471563,;POLR2M,5_prime_UTR_variant,,ENST00000464277,;GCOM1,intron_variant,,ENST00000463717,;GCOM1,intron_variant,,ENST00000460962,;GCOM1,intron_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000477282,;GCOM1,intron_variant,,ENST00000482814,;	116	74	75	SUCCESS
HDDC3	374659	.	GRCh37	15	91474733	91474733	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	90	0	ENST00000394272.3:c.410-98A>G		p.*137*	ENST00000394272	NM_001286451.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10366.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTGATGG	NONE	.	.	.	.	.	ENSP00000330721	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330334	Transcript	.	.	ENSG00000184508	30522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MESH1_HUMAN	HDDC3	HGNC	.	.	UPI000006E272	SNV	HDDC3,3_prime_UTR_variant,,ENST00000330334,;HDDC3,3_prime_UTR_variant,,ENST00000559898,;HDDC3,intron_variant,,ENST00000561036,;UNC45A,intron_variant,,ENST00000394275,;HDDC3,intron_variant,,ENST00000394272,;UNC45A,upstream_gene_variant,,ENST00000418476,;AC068831.3,downstream_gene_variant,,ENST00000438890,;AC068831.3,downstream_gene_variant,,ENST00000448987,;UNC45A,non_coding_transcript_exon_variant,,ENST00000556319,;UNC45A,intron_variant,,ENST00000480470,;UNC45A,intron_variant,,ENST00000461266,;UNC45A,upstream_gene_variant,,ENST00000556482,;UNC45A,upstream_gene_variant,,ENST00000553671,;HDDC3,intron_variant,,ENST00000494993,;HDDC3,intron_variant,,ENST00000559834,;UNC45A,upstream_gene_variant,,ENST00000557212,;UNC45A,upstream_gene_variant,,ENST00000495068,;UNC45A,upstream_gene_variant,,ENST00000497152,;UNC45A,upstream_gene_variant,,ENST00000486253,;	469	90	108	SUCCESS
SRRM2	23524	.	GRCh37	16	2814150	2814150	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	15	121	0	ENST00000301740.8:c.3621A>C	p.Arg1207Ser	p.R1207S	ENST00000301740	NM_016333.3	1207	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS32373.1	3621	RADIA|MUTECT|MUSE	.	CTTAGAACCCC	NONE	.	.	hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,missense_variant,p.Arg1207Ser,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,intron_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,upstream_gene_variant,,ENST00000570705,;	4170	121	106	SUCCESS
CD19	930	.	GRCh37	16	28944736	28944736	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774259710	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	86	0	ENST00000324662.3:c.741G>T	p.Leu247Phe	p.L247F	ENST00000324662		247	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS53998.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGTTGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000437940	.	4/15	.	.	.	.	.	.	.	.	rs774259710	4/15	PASS	ENST00000538922	Transcript	.	.	ENSG00000177455	1633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.11)	.	CD19_HUMAN	CD19	HGNC	Q71UW0_HUMAN	.	UPI0000E02929	SNV	CD19,missense_variant,p.Leu247Phe,ENST00000538922,;CD19,missense_variant,p.Leu247Phe,ENST00000324662,;CD19,missense_variant,p.Leu247Phe,ENST00000567541,;RABEP2,intron_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000566890,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,upstream_gene_variant,,ENST00000567368,;	803	86	65	SUCCESS
SF3B3	23450	.	GRCh37	16	70562901	70562901	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1334160769	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	181	0	ENST00000302516.5:c.196A>G	p.Met66Val	p.M66V	ENST00000302516	NM_012426.4	66	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS10894.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCATGGCC	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1	.	.	ENSP00000305790	.	3/26	.	.	.	.	.	.	.	.	COSM3378048	3/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.23)	1	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,start_lost,p.Met1?,ENST00000569687,;SF3B3,start_lost,p.Met1?,ENST00000567654,;SF3B3,missense_variant,p.Met66Val,ENST00000302516,;SF3B3,missense_variant,p.Met66Val,ENST00000577085,;SF3B3,downstream_gene_variant,,ENST00000566095,;SF3B3,downstream_gene_variant,,ENST00000564899,;SNORD111B,upstream_gene_variant,,ENST00000408587,;	407	181	126	SUCCESS
PLCG2	5336	.	GRCh37	16	81922861	81922861	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	111	0	ENST00000359376.3:c.850T>A	p.Phe284Ile	p.F284I	ENST00000359376	NM_002661.3	284	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS42204.1	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTTTCTTG	NONE	.	.	Superfamily_domains:SSF47473,PIRSF_domain:PIRSF000952,Pfam_domain:PF09279,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25	.	.	ENSP00000352336	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000359376	Transcript	.	.	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	tolerated(0.07)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Phe284Ile,ENST00000359376,;PLCG2,missense_variant,p.Phe54Ile,ENST00000563193,;PLCG2,upstream_gene_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000563375,;	1064	111	94	SUCCESS
TRIM16	10626	.	GRCh37	17	15539431	15539431	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	105	0	ENST00000336708.7:c.768G>A	p.Glu256=	p.E256=	ENST00000336708	NM_006470.3	256	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS11171.1	768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTACTCCAG	NONE	.	.	hmmpanther:PTHR24103:SF86,hmmpanther:PTHR24103,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000463188	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000578237	Transcript	.	.	ENSG00000221926	17241	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI16_HUMAN	TRIM16	HGNC	K7ENN8_HUMAN,J3QKY5_HUMAN	.	UPI000013C874	SNV	TRIM16,synonymous_variant,p.%3D,ENST00000579219,;RP11-385D13.1,synonymous_variant,p.%3D,ENST00000455584,;TRIM16,synonymous_variant,p.%3D,ENST00000336708,;TRIM16,synonymous_variant,p.%3D,ENST00000580110,;TRIM16,synonymous_variant,p.%3D,ENST00000577372,;TRIM16,synonymous_variant,p.%3D,ENST00000577886,;TRIM16,synonymous_variant,p.%3D,ENST00000577446,;TRIM16,synonymous_variant,p.%3D,ENST00000416464,;TRIM16,synonymous_variant,p.%3D,ENST00000578237,;TRIM16,synonymous_variant,p.%3D,ENST00000578744,;TRIM16,downstream_gene_variant,,ENST00000581200,;TRIM16,non_coding_transcript_exon_variant,,ENST00000473540,;TRIM16,downstream_gene_variant,,ENST00000581224,;TRIM16,downstream_gene_variant,,ENST00000460728,;TRIM16,upstream_gene_variant,,ENST00000473368,;TRIM16,upstream_gene_variant,,ENST00000577326,;	1624	105	101	SUCCESS
MYL4	4635	.	GRCh37	17	45286729	45286729	+	intron_variant	Intron	SNP	C	C	T	rs573384799	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	37	0	ENST00000354968.1:c.-34-26C>T		p.*12*	ENST00000354968	NM_001002841.1			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS11510.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACGCCAC	NONE	by1000G	.	.	T:0	.	ENSP00000347055	T:0	.	.	.	.	.	.	.	.	.	rs573384799	.	PASS	ENST00000354968	Transcript	.	T:0.0002	ENSG00000198336	7585	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MYL4_HUMAN	MYL4	HGNC	I3L1K6_HUMAN	.	UPI000013C60D	SNV	MYL4,5_prime_UTR_variant,,ENST00000393450,;MYL4,intron_variant,,ENST00000536623,;MYL4,intron_variant,,ENST00000354968,;MYL4,intron_variant,,ENST00000572316,;MYL4,intron_variant,,ENST00000576874,;MYL4,upstream_gene_variant,,ENST00000572303,;MYL4,5_prime_UTR_variant,,ENST00000573747,;MYL4,intron_variant,,ENST00000570772,;MYL4,intron_variant,,ENST00000571981,;	.	37	47	SUCCESS
HOXB2	3212	.	GRCh37	17	46620510	46620510	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	75	0	ENST00000330070.4:c.991G>T	p.Asp331Tyr	p.D331Y	ENST00000330070	NM_002145.3	331	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS11527.1	991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCGAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF179,hmmpanther:PTHR24326	.	.	ENSP00000331741	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330070	Transcript	.	.	ENSG00000173917	5113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	deleterious(0)	.	HXB2_HUMAN	HOXB2	HGNC	D3DTV2_HUMAN	.	UPI000012CF4C	SNV	HOXB2,missense_variant,p.Asp331Tyr,ENST00000330070,;HOXB-AS1,upstream_gene_variant,,ENST00000508688,;HOXB-AS1,upstream_gene_variant,,ENST00000502764,;HOXB-AS1,upstream_gene_variant,,ENST00000435312,;HOXB-AS1,upstream_gene_variant,,ENST00000504972,;HOXB2,upstream_gene_variant,,ENST00000504772,;HOXB2,downstream_gene_variant,,ENST00000574746,;HOXB2,downstream_gene_variant,,ENST00000571287,;	2159	75	78	SUCCESS
PPM1E	22843	.	GRCh37	17	56833485	56833485	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs887312378	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	9	180	0	ENST00000308249.2:c.127C>T	p.Pro43Ser	p.P43S	ENST00000308249	NM_014906.4	43	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11613.1	127	MUTECT|MUSE	.	CCGAACCCGAG	BUFFER|p.E44E|c.132G>A|4,BUFFER|p.S45P|c.133T>C|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF225	.	.	ENSP00000312411	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000308249	Transcript	.	.	ENSG00000175175	19322	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.5)	.	PPM1E_HUMAN	PPM1E	HGNC	A7E2X1_HUMAN	.	UPI000013ECF6	SNV	PPM1E,missense_variant,p.Pro43Ser,ENST00000308249,;	256	180	139	SUCCESS
CLTC	1213	.	GRCh37	17	57733326	57733326	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1408457952	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	47	0	ENST00000269122.3:c.907A>G	p.Ile303Val	p.I303V	ENST00000269122	NM_004859.3	303	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32696.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAATTTTT	NONE	.	.	hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096	.	.	ENSP00000269122	.	6/32	.	.	.	.	.	.	.	.	.	6/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.48)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Ile303Val,ENST00000269122,;CLTC,missense_variant,p.Ile303Val,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,missense_variant,p.Ile3Val,ENST00000483176,;CLTC,non_coding_transcript_exon_variant,,ENST00000472129,;CLTC,downstream_gene_variant,,ENST00000584313,;	1181	47	39	SUCCESS
EIF5A	1984	.	GRCh37	17	7214903	7214903	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	104	2	ENST00000336458.8:c.409G>C	p.Val137Leu	p.V137L	ENST00000336458	NM_001970.4	137	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS45601.1	499	RADIA|SOMATICSNIPER|VARSCANS	.	TCACGGTGCTG	NONE	.	.	hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,Pfam_domain:PF01287,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00037,PIRSF_domain:PIRSF003025,Superfamily_domains:SSF50249	.	.	ENSP00000336702	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000336452	Transcript	.	.	ENSG00000132507	3300	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.456)	.	deleterious(0.03)	.	IF5A1_HUMAN	EIF5A	HGNC	I3L397_HUMAN	.	UPI00001B5C0C	SNV	EIF5A,missense_variant,p.Val137Leu,ENST00000571955,;EIF5A,missense_variant,p.Val137Leu,ENST00000336458,;GPS2,missense_variant,p.Pro327Ala,ENST00000570780,;EIF5A,missense_variant,p.Val137Leu,ENST00000573542,;EIF5A,missense_variant,p.Val137Leu,ENST00000576930,;EIF5A,missense_variant,p.Val137Leu,ENST00000419711,;EIF5A,missense_variant,p.Val167Leu,ENST00000336452,;GPS2,missense_variant,p.Pro303Ala,ENST00000391950,;EIF5A,missense_variant,p.Val169Leu,ENST00000572815,;EIF5A,missense_variant,p.Val137Leu,ENST00000573714,;EIF5A,missense_variant,p.Val137Leu,ENST00000416016,;GPS2,downstream_gene_variant,,ENST00000574458,;NEURL4,downstream_gene_variant,,ENST00000570460,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000380728,;NEURL4,downstream_gene_variant,,ENST00000315614,;GPS2,downstream_gene_variant,,ENST00000389167,;NEURL4,downstream_gene_variant,,ENST00000399464,;GPS2,downstream_gene_variant,,ENST00000577040,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;EIF5A,downstream_gene_variant,,ENST00000575001,;NEURL4,downstream_gene_variant,,ENST00000573186,;NEURL4,downstream_gene_variant,,ENST00000572680,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572707,;EIF5A,downstream_gene_variant,,ENST00000355068,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000571098,;	547	106	88	SUCCESS
NLGN2	57555	.	GRCh37	17	7318376	7318376	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	92	0	ENST00000302926.2:c.946G>T	p.Gly316Cys	p.G316C	ENST00000302926	NM_020795.3	316	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS11103.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGGCTGT	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF53,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000305288	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000302926	Transcript	.	.	ENSG00000169992	14290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NLGN2_HUMAN	NLGN2	HGNC	.	.	UPI0000049FD2	SNV	NLGN2,missense_variant,p.Gly171Cys,ENST00000570940,;NLGN2,missense_variant,p.Gly316Cys,ENST00000302926,;NLGN2,missense_variant,p.Gly316Cys,ENST00000575301,;	1019	92	86	SUCCESS
CASKIN2	57513	.	GRCh37	17	73501979	73501979	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	37	0	ENST00000321617.3:c.758A>G	p.Tyr253Cys	p.Y253C	ENST00000321617	NM_020753.4	253	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11723.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTATACGTA	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24177:SF3,hmmpanther:PTHR24177,PROSITE_profiles:PS50297	.	.	ENSP00000325355	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000321617	Transcript	.	.	ENSG00000177303	18200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CSKI2_HUMAN	CASKIN2	HGNC	J3QKS3_HUMAN	.	UPI0000140BCB	SNV	CASKIN2,missense_variant,p.Tyr253Cys,ENST00000321617,;CASKIN2,missense_variant,p.Tyr171Cys,ENST00000433559,;CASKIN2,missense_variant,p.Tyr253Cys,ENST00000581870,;CASKIN2,downstream_gene_variant,,ENST00000583246,;CASKIN2,downstream_gene_variant,,ENST00000583258,;CASKIN2,upstream_gene_variant,,ENST00000580021,;	1345	37	56	SUCCESS
FBF1	85302	.	GRCh37	17	73922395	73922395	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	30	0	ENST00000586717.1:c.666A>G	p.Lys222=	p.K222=	ENST00000586717		222	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS45779.1	666	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTTTGGG	NONE	.	.	.	.	.	ENSP00000324292	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,synonymous_variant,p.%3D,ENST00000319129,;FBF1,synonymous_variant,p.%3D,ENST00000586717,;FBF1,synonymous_variant,p.%3D,ENST00000592193,;FBF1,synonymous_variant,p.%3D,ENST00000389570,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;FBF1,upstream_gene_variant,,ENST00000586838,;	940	30	42	SUCCESS
TMC6	11322	.	GRCh37	17	76121316	76121316	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	47	0	ENST00000322914.3:c.459C>A	p.Leu153=	p.L153=	ENST00000322914	NM_007267.6	153	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32748.1	459	MUTECT|MUSE	.	CTCTGGAGCTC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	.	.	ENSP00000465261	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,synonymous_variant,p.%3D,ENST00000592063,;TMC6,synonymous_variant,p.%3D,ENST00000322914,;TMC6,synonymous_variant,p.%3D,ENST00000306591,;TMC6,synonymous_variant,p.%3D,ENST00000392467,;TMC6,synonymous_variant,p.%3D,ENST00000590602,;TMC6,synonymous_variant,p.%3D,ENST00000589271,;TMC6,5_prime_UTR_variant,,ENST00000589553,;TMC6,5_prime_UTR_variant,,ENST00000322933,;TMC6,downstream_gene_variant,,ENST00000592594,;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,upstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000591594,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000586126,;TMC6,upstream_gene_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000588792,;	619	47	74	SUCCESS
ZNF271	0	.	GRCh37	18	32887458	32887458	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	29	164	0	ENST00000399070.3:n.1852C>G		p.*618*	ENST00000399070				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCTCAGC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399070	Transcript	.	.	ENSG00000257267	13065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF271	HGNC	.	.	.	SNV	ZNF271,non_coding_transcript_exon_variant,,ENST00000399070,;ZNF271,non_coding_transcript_exon_variant,,ENST00000465539,;ZNF271,non_coding_transcript_exon_variant,,ENST00000540308,;	1852	164	147	SUCCESS
NEDD4L	23327	.	GRCh37	18	56001068	56001068	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	94	0	ENST00000400345.3:c.1009A>C	p.Arg337=	p.R337=	ENST00000400345	NM_001144967.2	337	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS45872.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAAGGTTG	NONE	.	.	hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,PIRSF_domain:PIRSF001569	.	.	ENSP00000383199	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,synonymous_variant,p.%3D,ENST00000456173,;NEDD4L,synonymous_variant,p.%3D,ENST00000256832,;NEDD4L,synonymous_variant,p.%3D,ENST00000586263,;NEDD4L,synonymous_variant,p.%3D,ENST00000357895,;NEDD4L,synonymous_variant,p.%3D,ENST00000400345,;NEDD4L,synonymous_variant,p.%3D,ENST00000431212,;NEDD4L,synonymous_variant,p.%3D,ENST00000435432,;NEDD4L,synonymous_variant,p.%3D,ENST00000456986,;NEDD4L,synonymous_variant,p.%3D,ENST00000356462,;NEDD4L,synonymous_variant,p.%3D,ENST00000587881,;NEDD4L,synonymous_variant,p.%3D,ENST00000256830,;NEDD4L,synonymous_variant,p.%3D,ENST00000382850,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,downstream_gene_variant,,ENST00000586268,;NEDD4L,downstream_gene_variant,,ENST00000592601,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590020,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000589167,;	1292	94	86	SUCCESS
ZNF439	90594	.	GRCh37	19	11978256	11978256	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	59	223	1	ENST00000304030.2:c.372T>C	p.Phe124=	p.F124=	ENST00000304030	NM_152262.2	124	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS12268.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTTGTGTG	NONE	.	.	hmmpanther:PTHR24381:SF35,hmmpanther:PTHR24381	.	.	ENSP00000305077	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304030	Transcript	.	.	ENSG00000171291	20873	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN439_HUMAN	ZNF439	HGNC	C9JMA7_HUMAN	.	UPI000006F768	SNV	ZNF439,synonymous_variant,p.%3D,ENST00000304030,;ZNF439,synonymous_variant,p.%3D,ENST00000442091,;ZNF439,5_prime_UTR_variant,,ENST00000455282,;ZNF439,intron_variant,,ENST00000592534,;	572	224	181	SUCCESS
HAPLN4	404037	.	GRCh37	19	19369378	19369378	+	synonymous_variant	Silent	SNP	G	G	A	rs745741491	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	84	0	ENST00000291481.7:c.771C>T	p.Asn257=	p.N257=	ENST00000291481	NM_023002.2	257	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS12398.1	771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCGTTATG	NONE	byFrequency	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF11,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000291481	.	4/5	.	.	.	.	.	.	.	.	rs745741491	4/5	PASS	ENST00000291481	Transcript	.	.	ENSG00000187664	31357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPLN4_HUMAN	HAPLN4	HGNC	.	.	UPI00000496C7	SNV	HAPLN4,synonymous_variant,p.%3D,ENST00000291481,;AC138430.4,non_coding_transcript_exon_variant,,ENST00000586064,;HAPLN4,downstream_gene_variant,,ENST00000592862,;	835	84	78	SUCCESS
PNMAL1	0	.	GRCh37	19	46974172	46974172	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	47	0	ENST00000313683.10:c.121G>A	p.Glu41Lys	p.E41K	ENST00000313683	NM_018215.3	41	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33059.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCCTCAA	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21,Pfam_domain:PF14893	.	.	ENSP00000318131	.	2/3	.	.	.	.	.	.	.	.	COSM1681149,COSM1681150	2/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.486)	.	deleterious(0.01)	1,1	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,missense_variant,p.Glu41Lys,ENST00000602246,;PNMAL1,missense_variant,p.Glu41Lys,ENST00000438932,;PNMAL1,missense_variant,p.Glu41Lys,ENST00000313683,;	427	47	59	SUCCESS
GLTSCR1	0	.	GRCh37	19	48182589	48182589	+	synonymous_variant	Silent	SNP	A	A	G	rs147126463	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	26	162	0	ENST00000396720.3:c.162A>G	p.Gln54=	p.Q54=	ENST00000396720	NM_015711.3	54	caA/caG	0	.	G:0.0265	.	G:0.0029	.	G	Q	protein_coding	YES	CCDS46134.1	162	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAAGAAGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572	G:0	.	ENSP00000379946	G:0	6/15	.	.	.	.	.	.	.	.	rs147126463	6/15	common_in_exac	ENST00000396720	Transcript	.	G:0.0074	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000594866,;GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	356	162	186	SUCCESS
U2AF2	11338	.	GRCh37	19	56166440	56166440	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs374546412	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	17	223	0	ENST00000308924.4:c.-31G>T		p.*11*	ENST00000308924				0	A:0	.	.	.	.	T	.	protein_coding	YES	CCDS12933.1	.	MUTECT|MUSE	.	CGAAAGCTGCA	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000307863	.	1/12	.	.	.	.	.	.	.	.	rs374546412	1/12	PASS	ENST00000308924	Transcript	.	.	ENSG00000063244	23156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	U2AF2_HUMAN	U2AF2	HGNC	.	.	UPI0000137924	SNV	U2AF2,5_prime_UTR_variant,,ENST00000308924,;U2AF2,5_prime_UTR_variant,,ENST00000450554,;CCDC106,downstream_gene_variant,,ENST00000591578,;CCDC106,downstream_gene_variant,,ENST00000588740,;CCDC106,downstream_gene_variant,,ENST00000591241,;CCDC106,downstream_gene_variant,,ENST00000592996,;CCDC106,downstream_gene_variant,,ENST00000586790,;CCDC106,downstream_gene_variant,,ENST00000308964,;U2AF2,upstream_gene_variant,,ENST00000592867,;U2AF2,upstream_gene_variant,,ENST00000587196,;U2AF2,upstream_gene_variant,,ENST00000588850,;	10	223	224	SUCCESS
FBN3	84467	.	GRCh37	19	8196669	8196669	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	54	0	ENST00000270509.2:c.1759T>C	p.Cys587Arg	p.C587R	ENST00000270509	NM_032447.3	587	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS12196.1	1759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACAGTGGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	15/64	.	.	.	.	.	.	.	.	.	15/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Cys587Arg,ENST00000600128,;FBN3,missense_variant,p.Cys587Arg,ENST00000601739,;FBN3,missense_variant,p.Cys587Arg,ENST00000270509,;	2174	54	72	SUCCESS
OVGP1	5016	.	GRCh37	1	111957295	111957295	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	134	0	ENST00000369732.3:c.1828T>G	p.Leu610Val	p.L610V	ENST00000369732	NM_002557.3	610	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS834.1	1828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAAGTTAC	NONE	.	.	.	.	.	ENSP00000358747	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000369732	Transcript	.	.	ENSG00000085465	8524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	OVGP1_HUMAN	OVGP1	HGNC	Q9UJZ3_HUMAN	.	UPI0000130C53	SNV	OVGP1,missense_variant,p.Leu610Val,ENST00000369732,;OVGP1,downstream_gene_variant,,ENST00000540696,;OVGP1,downstream_gene_variant,,ENST00000481495,;OVGP1,downstream_gene_variant,,ENST00000494622,;	1884	134	99	SUCCESS
AADACL3	126767	.	GRCh37	1	12785194	12785194	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748929112	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	88	0	ENST00000359318.5:c.284G>T	p.Arg95Leu	p.R95L	ENST00000359318	NM_001103170.1	95	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS41253.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCGCAAGT	NONE	byFrequency	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF107,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474	.	.	ENSP00000352268	.	4/4	.	.	.	.	.	.	.	.	rs748929112,COSM1181144,COSM1181143	4/4	PASS	ENST00000359318	Transcript	.	.	ENSG00000188984	32037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.983)	.	deleterious(0)	0,1,1	ADCL3_HUMAN	AADACL3	HGNC	.	.	UPI00001611D0	SNV	AADACL3,missense_variant,p.Arg95Leu,ENST00000359318,;AADACL3,missense_variant,p.Arg25Leu,ENST00000332530,;	489	88	63	SUCCESS
CCNL2	81669	.	GRCh37	1	1326223	1326223	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	248	28	377	0	ENST00000400809.3:c.682C>T	p.Arg228Cys	p.R228C	ENST00000400809	NM_030937.4	228	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS30557.1	682	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGAAGGC	NONE	.	.	Superfamily_domains:SSF47954,SMART_domains:SM00385,PIRSF_domain:PIRSF036580,Pfam_domain:PF02984,Gene3D:1.10.472.10,hmmpanther:PTHR10026:SF45,hmmpanther:PTHR10026	.	.	ENSP00000383611	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,missense_variant,p.Arg228Cys,ENST00000400809,;CCNL2,missense_variant,p.Arg6Cys,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000408918,;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,non_coding_transcript_exon_variant,,ENST00000505849,;CCNL2,non_coding_transcript_exon_variant,,ENST00000469113,;CCNL2,downstream_gene_variant,,ENST00000471930,;CCNL2,3_prime_UTR_variant,,ENST00000481223,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,3_prime_UTR_variant,,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480479,;CCNL2,non_coding_transcript_exon_variant,,ENST00000418865,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480646,;CCNL2,non_coding_transcript_exon_variant,,ENST00000482365,;CCNL2,non_coding_transcript_exon_variant,,ENST00000492998,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,downstream_gene_variant,,ENST00000463895,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,downstream_gene_variant,,ENST00000425598,;	688	377	276	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150129195	150129195	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	40	88	0	ENST00000369124.4:c.409C>A	p.Arg137Ser	p.R137S	ENST00000369124	NM_016274.4	137	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS945.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACCGTATC	NONE	.	.	hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871,Superfamily_domains:SSF50729	.	.	ENSP00000358120	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.06)	.	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,missense_variant,p.Arg137Ser,ENST00000025469,;PLEKHO1,missense_variant,p.Arg137Ser,ENST00000369124,;PLEKHO1,synonymous_variant,p.%3D,ENST00000441340,;PLEKHO1,5_prime_UTR_variant,,ENST00000369126,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000477309,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000479194,;PLEKHO1,downstream_gene_variant,,ENST00000492304,;PLEKHO1,upstream_gene_variant,,ENST00000502767,;PLEKHO1,upstream_gene_variant,,ENST00000485470,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	687	88	114	SUCCESS
PSMD4	5710	.	GRCh37	1	151239737	151239737	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	12	130	0	ENST00000368884.3:c.1052C>G	p.Ala351Gly	p.A351G	ENST00000368884	NM_002810.2	351	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS991.1	1052	MUTECT|MUSE|VARSCANS	.	TGAAGCCATTC	NONE	.	.	hmmpanther:PTHR10223	.	.	ENSP00000357879	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000368884	Transcript	.	.	ENSG00000159352	9561	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.715)	.	deleterious(0.02)	.	PSMD4_HUMAN	PSMD4	HGNC	A6PVX3_HUMAN	.	UPI0000038DA5	SNV	PSMD4,missense_variant,p.Ala58Gly,ENST00000453615,;PSMD4,missense_variant,p.Ala351Gly,ENST00000368884,;PSMD4,missense_variant,p.Ala354Gly,ENST00000368881,;PSMD4,missense_variant,p.Ala167Gly,ENST00000445776,;PSMD4,downstream_gene_variant,,ENST00000437736,;PSMD4,downstream_gene_variant,,ENST00000469786,;PSMD4,3_prime_UTR_variant,,ENST00000427779,;PSMD4,downstream_gene_variant,,ENST00000470396,;PSMD4,downstream_gene_variant,,ENST00000461434,;PSMD4,downstream_gene_variant,,ENST00000491857,;PSMD4,downstream_gene_variant,,ENST00000462970,;PSMD4,downstream_gene_variant,,ENST00000476855,;	1132	130	138	SUCCESS
THBS3	7059	.	GRCh37	1	155171290	155171290	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761943681	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	98	245	0	ENST00000368378.3:c.1247G>A	p.Arg416Gln	p.R416Q	ENST00000368378	NM_007112.4	416	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1099.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCGGGCT	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,Gene3D:2.10.25.10	.	.	ENSP00000357362	.	11/23	.	.	.	.	.	.	.	.	rs761943681,COSM1267755	11/23	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.019)	.	tolerated(0.12)	0,1	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,missense_variant,p.Arg416Gln,ENST00000368378,;THBS3,missense_variant,p.Arg296Gln,ENST00000457183,;THBS3,5_prime_UTR_variant,,ENST00000541576,;THBS3,5_prime_UTR_variant,,ENST00000541990,;RP11-263K19.4,intron_variant,,ENST00000422665,;RP11-263K19.4,intron_variant,,ENST00000430312,;RP11-263K19.4,intron_variant,,ENST00000453136,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;RP11-263K19.4,downstream_gene_variant,,ENST00000454348,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;THBS3,non_coding_transcript_exon_variant,,ENST00000460050,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;THBS3,upstream_gene_variant,,ENST00000465596,;THBS3,missense_variant,p.Arg266Gln,ENST00000428962,;THBS3,non_coding_transcript_exon_variant,,ENST00000496332,;THBS3,upstream_gene_variant,,ENST00000469769,;	1268	245	301	SUCCESS
PPOX	5498	.	GRCh37	1	161140408	161140408	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	12	63	0	ENST00000352210.5:c.1099-2A>C		p.X367_splice	ENST00000352210	NM_000309.3	367		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1221.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTAGGTGA	NONE	.	.	.	.	.	ENSP00000356978	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367999	Transcript	.	.	ENSG00000143224	9280	.	.	HIGH	10/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPOX_HUMAN	PPOX	HGNC	Q96TC9_HUMAN,Q96SE3_HUMAN	.	UPI0000000C3C	SNV	PPOX,splice_acceptor_variant,,ENST00000367999,;PPOX,splice_acceptor_variant,,ENST00000544598,;PPOX,splice_acceptor_variant,,ENST00000432542,;PPOX,splice_acceptor_variant,,ENST00000537829,;PPOX,splice_acceptor_variant,,ENST00000352210,;PPOX,splice_acceptor_variant,,ENST00000537523,;PPOX,splice_acceptor_variant,,ENST00000535223,;USP21,downstream_gene_variant,,ENST00000289865,;B4GALT3,downstream_gene_variant,,ENST00000367998,;USP21,downstream_gene_variant,,ENST00000368002,;B4GALT3,downstream_gene_variant,,ENST00000319769,;USP21,downstream_gene_variant,,ENST00000368001,;PPOX,splice_acceptor_variant,,ENST00000497522,;PPOX,splice_acceptor_variant,,ENST00000495483,;PPOX,splice_acceptor_variant,,ENST00000462866,;PPOX,non_coding_transcript_exon_variant,,ENST00000466452,;B4GALT3,downstream_gene_variant,,ENST00000496313,;B4GALT3,downstream_gene_variant,,ENST00000470882,;B4GALT3,downstream_gene_variant,,ENST00000465740,;B4GALT3,downstream_gene_variant,,ENST00000493164,;PPOX,downstream_gene_variant,,ENST00000490768,;PPOX,downstream_gene_variant,,ENST00000470607,;PPOX,downstream_gene_variant,,ENST00000494216,;B4GALT3,downstream_gene_variant,,ENST00000486938,;USP21,downstream_gene_variant,,ENST00000493054,;B4GALT3,downstream_gene_variant,,ENST00000466504,;PPOX,downstream_gene_variant,,ENST00000462977,;B4GALT3,downstream_gene_variant,,ENST00000487004,;PPOX,downstream_gene_variant,,ENST00000460611,;PPOX,splice_acceptor_variant,,ENST00000539753,;PPOX,splice_acceptor_variant,,ENST00000541818,;PPOX,downstream_gene_variant,,ENST00000468968,;PPOX,downstream_gene_variant,,ENST00000479246,;USP21,downstream_gene_variant,,ENST00000487163,;	.	63	105	SUCCESS
LBR	3930	.	GRCh37	1	225600294	225600294	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	56	406	0	ENST00000272163.4:c.946G>T	p.Gly316Cys	p.G316C	ENST00000272163	NM_002296.3	316	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS1545.1	946	RADIA|VARSCANS	.	TACGCCCTGGA	NONE	.	.	Pfam_domain:PF01222,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32,Transmembrane_helices:TMhelix	.	.	ENSP00000339883	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	LBR,missense_variant,p.Gly316Cys,ENST00000338179,;LBR,missense_variant,p.Gly316Cys,ENST00000272163,;LBR,upstream_gene_variant,,ENST00000424022,;AC092811.1,upstream_gene_variant,,ENST00000366845,;LBR,downstream_gene_variant,,ENST00000487054,;	1072	406	404	SUCCESS
PEX10	5192	.	GRCh37	1	2338158	2338158	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	109	0	ENST00000447513.2:c.776+1G>T		p.X259_splice	ENST00000447513	NM_002617.3	259		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41.1	.	MUTECT|MUSE	.	ACGCACCTGCG	NONE	.	.	.	.	.	ENSP00000288774	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000288774	Transcript	.	.	ENSG00000157911	8851	.	.	HIGH	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEX10_HUMAN	PEX10	HGNC	J3QRM4_HUMAN	.	UPI000002B0DD	SNV	PEX10,splice_donor_variant,,ENST00000507596,;PEX10,splice_donor_variant,,ENST00000447513,;PEX10,splice_donor_variant,,ENST00000288774,;RER1,downstream_gene_variant,,ENST00000378513,;RER1,downstream_gene_variant,,ENST00000488353,;RER1,downstream_gene_variant,,ENST00000605895,;PEX10,downstream_gene_variant,,ENST00000508384,;RER1,downstream_gene_variant,,ENST00000378518,;RER1,downstream_gene_variant,,ENST00000306256,;RER1,downstream_gene_variant,,ENST00000443438,;RER1,downstream_gene_variant,,ENST00000378512,;PEX10,downstream_gene_variant,,ENST00000504111,;PEX10,downstream_gene_variant,,ENST00000515760,;PEX10,splice_donor_variant,,ENST00000510434,;RER1,downstream_gene_variant,,ENST00000462129,;PEX10,downstream_gene_variant,,ENST00000502666,;PEX10,downstream_gene_variant,,ENST00000514502,;	.	109	82	SUCCESS
TFB2M	64216	.	GRCh37	1	246729469	246729469	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs753951222	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	21	113	0	ENST00000366514.4:c.-29T>A		p.*10*	ENST00000366514	NM_022366.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1627.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAATCACC	NONE	.	.	.	.	.	ENSP00000355471	.	1/8	.	.	.	.	.	.	.	.	rs753951222	1/8	PASS	ENST00000366514	Transcript	.	.	ENSG00000162851	18559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFB2M_HUMAN	TFB2M	HGNC	.	.	UPI0000073CFC	SNV	TFB2M,5_prime_UTR_variant,,ENST00000544618,;TFB2M,5_prime_UTR_variant,,ENST00000366514,;CNST,upstream_gene_variant,,ENST00000366513,;CNST,upstream_gene_variant,,ENST00000366511,;CNST,upstream_gene_variant,,ENST00000366512,;CNST,upstream_gene_variant,,ENST00000483271,;	158	113	96	SUCCESS
CCDC17	149483	.	GRCh37	1	46088424	46088429	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	GGATTT	GGATTT	-	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	GGATTT	GGATTT	.	.	.	.	.	.	.	.	.	.	.	.	.	113	15	186	0	ENST00000528266.1:c.734_739del	p.Glu245_Arg247delinsGly	p.E245_R247delinsG	ENST00000528266		245	gAAATCCgg/ggg	0	.	.	.	.	.	-	EIR/G	protein_coding	YES	CCDS44131.2	734-739	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCACCGGATTTCGGCA	NONE	.	.	.	.	.	ENSP00000432172	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000528266	Transcript	.	.	ENSG00000159588	26574	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD17_HUMAN	CCDC17	HGNC	.	.	UPI0001AE78A9	deletion	CCDC17,inframe_deletion,p.Glu245_Arg247delinsGly,ENST00000528266,;CCDC17,inframe_deletion,p.Glu213_Arg215delinsGly,ENST00000343901,;CCDC17,inframe_deletion,p.Glu236_Arg238delinsGly,ENST00000421127,;CCDC17,intron_variant,,ENST00000445048,;NASP,downstream_gene_variant,,ENST00000402363,;NASP,downstream_gene_variant,,ENST00000350030,;GPBP1L1,downstream_gene_variant,,ENST00000355105,;GPBP1L1,downstream_gene_variant,,ENST00000290795,;NASP,downstream_gene_variant,,ENST00000534450,;NASP,downstream_gene_variant,,ENST00000537798,;NASP,downstream_gene_variant,,ENST00000351223,;NASP,downstream_gene_variant,,ENST00000531612,;NASP,downstream_gene_variant,,ENST00000372052,;CCDC17,splice_region_variant,,ENST00000464739,;GPBP1L1,downstream_gene_variant,,ENST00000479235,;NASP,downstream_gene_variant,,ENST00000530073,;CCDC17,inframe_deletion,p.Glu213_Arg215delinsGly,ENST00000479529,;CCDC17,splice_region_variant,,ENST00000525599,;CCDC17,splice_region_variant,,ENST00000372044,;CCDC17,splice_region_variant,,ENST00000482416,;CCDC17,splice_region_variant,,ENST00000491755,;NASP,downstream_gene_variant,,ENST00000481782,;NASP,downstream_gene_variant,,ENST00000472408,;	882-887	186	128	SUCCESS
THBD	7056	.	GRCh37	20	23028717	23028717	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	101	0	ENST00000377103.2:c.1425C>T	p.His475=	p.H475=	ENST00000377103	NM_000361.2	475	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS13148.1	1425	MUTECT|MUSE	.	CCAATGTGGCG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24036,hmmpanther:PTHR24036:SF5,SMART_domains:SM00181,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,Prints_domain:PR00907	.	.	ENSP00000366307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377103	Transcript	1	.	ENSG00000178726	11784	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRBM_HUMAN	THBD	HGNC	.	.	UPI00000002BD	SNV	THBD,synonymous_variant,p.%3D,ENST00000377103,;	1662	101	95	SUCCESS
KIAA1755	85449	.	GRCh37	20	36888575	36888575	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	66	0	ENST00000279024.4:c.3+325C>T		p.*1*	ENST00000279024	NM_001029864.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33467.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACATGCAAAA	NONE	.	.	.	.	.	ENSP00000279024	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000279024	Transcript	.	.	ENSG00000149633	29372	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1755_HUMAN	KIAA1755	HGNC	.	.	UPI000041AADF	SNV	BPI,5_prime_UTR_variant,,ENST00000418004,;KIAA1755,intron_variant,,ENST00000279024,;BPI,upstream_gene_variant,,ENST00000451435,;BPI,upstream_gene_variant,,ENST00000479646,;KIAA1755,intron_variant,,ENST00000496900,;	.	66	74	SUCCESS
TUBB1	81027	.	GRCh37	20	57599829	57599840	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	GGGACATTAACT	GGGACATTAACT	-	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	GGGACATTAACT	GGGACATTAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	47	0	ENST00000217133.1:c.1348_*3del		p.*450*	ENST00000217133	NM_030773.3	449		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13475.1	1347-?	VARSCANI*|PINDEL	.	AGATAAGGGACATTAACTGTGAG	NONE	.	.	.	.	.	ENSP00000217133	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000217133	Transcript	1	.	ENSG00000101162	16257	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBB1_HUMAN	TUBB1	HGNC	.	.	UPI0000071B14	deletion	TUBB1,coding_sequence_variant,,ENST00000217133,;ATP5E,downstream_gene_variant,,ENST00000395663,;ATP5E,downstream_gene_variant,,ENST00000395659,;ATP5E,downstream_gene_variant,,ENST00000243997,;	1616-1627	47	52	SUCCESS
SYCP2	10388	.	GRCh37	20	58470629	58470631	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-	rs752037334	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	123	0	ENST00000357552.3:c.1526_1528del	p.Arg509del	p.R509del	ENST00000357552		509	aGAAtt/att	0	-:0.0002	.	.	.	.	-	RI/I	protein_coding	YES	CCDS13482.1	1526-1528	INDELOCATOR|VARSCANI	.	GTTTAATTCTTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	.	-:0.0002	ENSP00000350162	.	20/45	.	.	.	.	.	.	.	.	rs752037334	20/45	PASS	ENST00000357552	Transcript	.	.	ENSG00000196074	11490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYCP2_HUMAN	SYCP2	HGNC	A2A341_HUMAN	.	UPI0000135683	deletion	SYCP2,inframe_deletion,p.Arg509del,ENST00000446834,;SYCP2,inframe_deletion,p.Arg509del,ENST00000357552,;SYCP2,inframe_deletion,p.Arg509del,ENST00000371001,;	1752-1754	123	106	SUCCESS
GRIK1	2897	.	GRCh37	21	30968882	30968882	+	synonymous_variant	Silent	SNP	G	G	T	rs374777692	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	64	0	ENST00000399907.1:c.1215C>A	p.Gly405=	p.G405=	ENST00000399907	NM_000830.3	405	ggC/ggA	0	A:0	.	.	.	.	T	G	protein_coding	YES	CCDS42913.1	1215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCGCCAGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53822,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36	.	A:0.0001	ENSP00000382791	.	9/17	.	.	.	.	.	.	.	.	rs374777692	9/17	PASS	ENST00000399907	Transcript	.	.	ENSG00000171189	4579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK1_HUMAN	GRIK1	HGNC	Q9UNN1_HUMAN,Q71UA3_HUMAN	.	UPI000012B612	SNV	GRIK1,synonymous_variant,p.%3D,ENST00000327783,;GRIK1,synonymous_variant,p.%3D,ENST00000389124,;GRIK1,synonymous_variant,p.%3D,ENST00000535441,;GRIK1,synonymous_variant,p.%3D,ENST00000399907,;GRIK1,synonymous_variant,p.%3D,ENST00000399913,;GRIK1,synonymous_variant,p.%3D,ENST00000309434,;GRIK1-AS2,3_prime_UTR_variant,,ENST00000333765,;BACH1,intron_variant,,ENST00000468059,;GRIK1,intron_variant,,ENST00000399914,;BACH1,intron_variant,,ENST00000422809,;GRIK1,intron_variant,,ENST00000399909,;GRIK1,intron_variant,,ENST00000389125,;BACH1,non_coding_transcript_exon_variant,,ENST00000462262,;GRIK1,downstream_gene_variant,,ENST00000472429,;	1627	64	57	SUCCESS
POLR2F	5435	.	GRCh37	22	38349756	38349756	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	20	0	ENST00000442738.2:c.-39G>C		p.*13*	ENST00000442738	NM_021974.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13963.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGGGACC	NONE	.	.	.	.	.	ENSP00000403852	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000442738	Transcript	.	.	ENSG00000100142	9193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPAB2_HUMAN	POLR2F	HGNC	U3KQS8_HUMAN	.	UPI00001345E0	SNV	POLR2F,5_prime_UTR_variant,,ENST00000492213,;POLR2F,5_prime_UTR_variant,,ENST00000488684,;POLR2F,5_prime_UTR_variant,,ENST00000470701,;POLR2F,5_prime_UTR_variant,,ENST00000606538,;POLR2F,5_prime_UTR_variant,,ENST00000442738,;POLR2F,5_prime_UTR_variant,,ENST00000407936,;POLR2F,5_prime_UTR_variant,,ENST00000460648,;POLR2F,5_prime_UTR_variant,,ENST00000405557,;C22orf23,upstream_gene_variant,,ENST00000422191,;C22orf23,upstream_gene_variant,,ENST00000403026,;C22orf23,upstream_gene_variant,,ENST00000249079,;C22orf23,upstream_gene_variant,,ENST00000403305,;C22orf23,upstream_gene_variant,,ENST00000418863,;RP5-1039K5.17,downstream_gene_variant,,ENST00000609976,;POLR2F,intron_variant,,ENST00000484894,;POLR2F,5_prime_UTR_variant,,ENST00000443002,;POLR2F,5_prime_UTR_variant,,ENST00000483713,;	87	20	29	SUCCESS
CSNK1E	1454	.	GRCh37	22	38694819	38694819	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs11548926	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	80	0	ENST00000359867.3:c.857A>G	p.Tyr286Cys	p.Y286C	ENST00000359867	NM_001894.4	286	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13970.1	857	RADIA|MUTECT|MUSE|VARSCANS	.	AGACGTAGTCA	NONE	byHapMap	.	hmmpanther:PTHR11909:SF74,hmmpanther:PTHR11909,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000380044	.	7/11	.	.	.	.	.	.	.	.	rs11548926	7/11	PASS	ENST00000396832	Transcript	.	.	ENSG00000213923	2453	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.403)	.	deleterious_low_confidence(0)	.	KC1E_HUMAN	CSNK1E	HGNC	Q5U045_HUMAN,B0QY36_HUMAN	.	UPI000012DC67	SNV	CSNK1E,missense_variant,p.Tyr14Cys,ENST00000431632,;CSNK1E,missense_variant,p.Tyr286Cys,ENST00000413574,;CSNK1E,missense_variant,p.Tyr286Cys,ENST00000400206,;CSNK1E,missense_variant,p.Tyr286Cys,ENST00000359867,;CSNK1E,missense_variant,p.Tyr286Cys,ENST00000403904,;CSNK1E,missense_variant,p.Tyr286Cys,ENST00000405675,;CSNK1E,missense_variant,p.Tyr224Cys,ENST00000451964,;CSNK1E,missense_variant,p.Tyr286Cys,ENST00000396832,;CSNK1E,upstream_gene_variant,,ENST00000366216,;CSNK1E,downstream_gene_variant,,ENST00000430335,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000498529,;CSNK1E,missense_variant,p.Thr112Ala,ENST00000431611,;CSNK1E,missense_variant,p.Thr85Ala,ENST00000442216,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000467976,;CSNK1E,upstream_gene_variant,,ENST00000495232,;CSNK1E,upstream_gene_variant,,ENST00000494610,;	1118	80	91	SUCCESS
CHST10	9486	.	GRCh37	2	101019079	101019080	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GG	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	52	0	ENST00000264249.3:c.137_138dup	p.Met47ProfsTer5	p.M47Pfs*5	ENST00000264249	NM_004854.4	46	-/CC	0	.	.	.	.	.	GG	-/X	protein_coding	YES	CCDS2047.1	138-139	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCATGGTTG	NONE	.	.	hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF2	.	.	ENSP00000264249	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	insertion	CHST10,frameshift_variant,p.Met47ProfsTer5,ENST00000418201,;CHST10,frameshift_variant,p.Met47ProfsTer5,ENST00000420858,;CHST10,frameshift_variant,p.Met95ProfsTer5,ENST00000448989,;CHST10,frameshift_variant,p.Met47ProfsTer5,ENST00000409046,;CHST10,frameshift_variant,p.Met95ProfsTer5,ENST00000542617,;CHST10,frameshift_variant,p.Met47ProfsTer5,ENST00000264249,;CHST10,frameshift_variant,p.Met47ProfsTer5,ENST00000409701,;CHST10,frameshift_variant,p.Met47ProfsTer5,ENST00000421474,;CHST10,downstream_gene_variant,,ENST00000435960,;CHST10,intron_variant,,ENST00000484382,;	524-525	52	60	SUCCESS
MAP3K2	10746	.	GRCh37	2	128065249	128065249	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs370911611	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	128	0	ENST00000344908.5:c.1766A>G	p.Tyr589Cys	p.Y589C	ENST00000344908	NM_006609.4	589	tAt/tGt	0	C:0	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46404.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTATAGTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF37,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	C:0.0001	ENSP00000387246	.	17/17	.	.	.	.	.	.	.	.	rs370911611	17/17	PASS	ENST00000409947	Transcript	.	.	ENSG00000169967	6854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	tolerated(0.19)	.	M3K2_HUMAN	MAP3K2	HGNC	Q96K88_HUMAN,F8W6K3_HUMAN	.	UPI0000208C78	SNV	MAP3K2,missense_variant,p.Tyr589Cys,ENST00000409947,;MAP3K2,missense_variant,p.Tyr589Cys,ENST00000344908,;	2049	128	95	SUCCESS
THSD7B	80731	.	GRCh37	2	137814760	137814760	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	36	125	0	ENST00000272643.3:c.910G>A	p.Val304Ile	p.V304I	ENST00000272643		304	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	.	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGTTTCG	BUFFER|p.S274L|c.821C>T|4,BUFFER|p.S305L|c.914C>T|4	.	.	hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311	.	.	ENSP00000272643	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.593)	.	tolerated(0.07)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Val163Ile,ENST00000543459,;THSD7B,missense_variant,p.Val304Ile,ENST00000409968,;THSD7B,missense_variant,p.Val273Ile,ENST00000413152,;THSD7B,missense_variant,p.Val304Ile,ENST00000272643,;THSD7B,downstream_gene_variant,,ENST00000472720,;	910	125	98	SUCCESS
RAPGEF4	11069	.	GRCh37	2	173879264	173879264	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	57	163	0	ENST00000397081.3:c.1731C>T	p.Val577=	p.V577=	ENST00000397081	NM_007023.3	577	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS42775.1	1731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTCATCCG	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000380271	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000397081	Transcript	.	.	ENSG00000091428	16626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF4_HUMAN	RAPGEF4	HGNC	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN	.	UPI000006D4C7	SNV	RAPGEF4,synonymous_variant,p.%3D,ENST00000397087,;RAPGEF4,synonymous_variant,p.%3D,ENST00000409036,;RAPGEF4,synonymous_variant,p.%3D,ENST00000264111,;RAPGEF4,synonymous_variant,p.%3D,ENST00000535187,;RAPGEF4,synonymous_variant,p.%3D,ENST00000539331,;RAPGEF4,synonymous_variant,p.%3D,ENST00000538974,;RAPGEF4,synonymous_variant,p.%3D,ENST00000397081,;RAPGEF4,synonymous_variant,p.%3D,ENST00000540783,;	1874	163	156	SUCCESS
TTN	7273	.	GRCh37	2	179463397	179463397	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	A	A	G	rs767459651	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	15	118	0	ENST00000591111.1:c.52040-16T>C		p.*17347*	ENST00000591111				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59435.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTATACGT	NONE	byFrequency	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	rs767459651	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	291/362	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,upstream_gene_variant,,ENST00000589487,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;	.	118	111	SUCCESS
TTN	7273	.	GRCh37	2	179643471	179643471	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	37	0	ENST00000591111.1:c.4208+130C>A		p.*1403*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	MUTECT|MUSE	.	TGTTGGTGTTG	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	24/362	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,intron_variant,,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	.	37	26	SUCCESS
DNAJC10	54431	.	GRCh37	2	183604864	183604864	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	80	0	ENST00000264065.7:c.988-162A>G		p.*330*	ENST00000264065	NM_018981.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33345.1	.	MUTECT|MUSE	.	CCAAAATACAC	NONE	.	.	.	.	.	ENSP00000264065	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264065	Transcript	.	.	ENSG00000077232	24637	.	.	MODIFIER	11/23	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DJC10_HUMAN	DNAJC10	HGNC	Q8N4C5_HUMAN	.	UPI000007376C	SNV	DNAJC10,3_prime_UTR_variant,,ENST00000537515,;DNAJC10,intron_variant,,ENST00000264065,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,intron_variant,,ENST00000444005,;DNAJC10,intron_variant,,ENST00000418559,;	.	80	49	SUCCESS
RFTN2	130132	.	GRCh37	2	198508996	198508996	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs758499071	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	96	0	ENST00000295049.4:c.324C>A	p.Ser108Arg	p.S108R	ENST00000295049	NM_144629.2	108	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS2323.1	324	MUTECT|MUSE	.	TTTGGGCTGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250	.	.	ENSP00000295049	.	3/9	.	.	.	.	.	.	.	.	rs758499071	3/9	PASS	ENST00000295049	Transcript	.	.	ENSG00000162944	26402	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.162)	.	deleterious(0.04)	.	RFTN2_HUMAN	RFTN2	HGNC	C9J6C2_HUMAN	.	UPI000013E1F9	SNV	RFTN2,missense_variant,p.Ser108Arg,ENST00000295049,;RFTN2,missense_variant,p.Ser108Arg,ENST00000429081,;	861	96	63	SUCCESS
TRPM8	79054	.	GRCh37	2	234916713	234916713	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	63	0	ENST00000324695.4:c.3231-1G>T		p.X1077_splice	ENST00000324695	NM_024080.4	1077		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33407.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAGAATGA	NONE	.	.	.	.	.	ENSP00000323926	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	HIGH	23/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,splice_acceptor_variant,,ENST00000324695,;TRPM8,splice_acceptor_variant,,ENST00000456930,;TRPM8,splice_acceptor_variant,,ENST00000433712,;TRPM8,splice_acceptor_variant,,ENST00000444298,;TRPM8,splice_acceptor_variant,,ENST00000439148,;	.	63	46	SUCCESS
GPR35	2859	.	GRCh37	2	241569491	241569491	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs148595408	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	40	0	ENST00000319838.5:c.122C>A	p.Ala41Glu	p.A41E	ENST00000319838	NM_001195381.1	41	gCg/gAg	0	T:0	.	.	.	.	A	A/E	protein_coding	YES	CCDS56174.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGCTCT	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF9,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0.0001	ENSP00000415890	.	6/6	.	.	.	.	.	.	.	.	rs148595408	6/6	PASS	ENST00000438013	Transcript	.	.	ENSG00000178623	4492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GPR35_HUMAN	GPR35	HGNC	.	.	UPI0000E6291C	SNV	GPR35,missense_variant,p.Ala41Glu,ENST00000430267,;GPR35,missense_variant,p.Ala41Glu,ENST00000407714,;GPR35,missense_variant,p.Ala72Glu,ENST00000438013,;GPR35,missense_variant,p.Ala41Glu,ENST00000319838,;GPR35,missense_variant,p.Ala41Glu,ENST00000403859,;	936	40	45	SUCCESS
ING5	84289	.	GRCh37	2	242662681	242662681	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	36	131	0	ENST00000313552.6:c.678del	p.Lys226AsnfsTer48	p.K226Nfs*48	ENST00000313552	NM_032329.4	225	ggA/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS33425.1	675	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAAGGAAAATG	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Pfam_domain:PF00628,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR10333:SF41,hmmpanther:PTHR10333,PROSITE_profiles:PS50016	.	.	ENSP00000322142	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000313552	Transcript	.	.	ENSG00000168395	19421	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ING5_HUMAN	ING5	HGNC	.	.	UPI00000702CD	deletion	ING5,frameshift_variant,p.Lys226AsnfsTer5,ENST00000406941,;ING5,frameshift_variant,p.Lys226AsnfsTer48,ENST00000313552,;AC114730.11,downstream_gene_variant,,ENST00000435195,;ING5,non_coding_transcript_exon_variant,,ENST00000493578,;ING5,upstream_gene_variant,,ENST00000486061,;ING5,downstream_gene_variant,,ENST00000482774,;ING5,upstream_gene_variant,,ENST00000474238,;ING5,downstream_gene_variant,,ENST00000445620,;ING5,downstream_gene_variant,,ENST00000489509,;	701	131	156	SUCCESS
STRN	6801	.	GRCh37	2	37129895	37129895	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	46	0	ENST00000263918.4:c.492-1G>T		p.X164_splice	ENST00000263918	NM_003162.3	164		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1784.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACCTGTGT	NONE	.	.	.	.	.	ENSP00000263918	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263918	Transcript	.	.	ENSG00000115808	11424	.	.	HIGH	4/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STRN_HUMAN	STRN	HGNC	.	.	UPI000013D48A	SNV	STRN,splice_acceptor_variant,,ENST00000263918,;STRN,splice_acceptor_variant,,ENST00000379213,;STRN,non_coding_transcript_exon_variant,,ENST00000495595,;	.	46	38	SUCCESS
NRXN1	9378	.	GRCh37	2	51255005	51255005	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs202118977	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	100	0	ENST00000406316.2:c.407A>G	p.Lys136Arg	p.K136R	ENST00000406316	NM_004801.4	136	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS46282.1	407	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTTGGCC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	2/24	.	.	.	.	.	.	.	.	rs202118977	2/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.35)	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,missense_variant,p.Lys136Arg,ENST00000405472,;NRXN1,missense_variant,p.Lys136Arg,ENST00000404971,;NRXN1,missense_variant,p.Lys136Arg,ENST00000406316,;NRXN1,missense_variant,p.Lys136Arg,ENST00000401669,;NRXN1,missense_variant,p.Lys136Arg,ENST00000406859,;NRXN1,missense_variant,p.Lys136Arg,ENST00000405581,;NRXN1,missense_variant,p.Lys136Arg,ENST00000402717,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,upstream_gene_variant,,ENST00000496792,;	1747	100	79	SUCCESS
KNG1	3827	.	GRCh37	3	186459974	186459974	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	19	117	0	ENST00000265023.4:c.1789G>A	p.Gly597Ser	p.G597S	ENST00000265023	NM_001102416.2	597	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43183.1	1789	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGGCCTT	NONE	.	.	hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9	.	.	ENSP00000265023	.	10/10	.	.	.	.	.	.	.	.	COSM1042357	10/10	PASS	ENST00000265023	Transcript	.	.	ENSG00000113889	6383	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.001)	.	tolerated(1)	1	KNG1_HUMAN	KNG1	HGNC	.	.	UPI000013D5AC	SNV	KNG1,missense_variant,p.Gly597Ser,ENST00000265023,;KNG1,intron_variant,,ENST00000447445,;KNG1,intron_variant,,ENST00000287611,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,downstream_gene_variant,,ENST00000596632,;RP11-573D15.8,downstream_gene_variant,,ENST00000596329,;RP11-573D15.8,downstream_gene_variant,,ENST00000609726,;RP11-573D15.8,downstream_gene_variant,,ENST00000609652,;	2001	117	135	SUCCESS
TRNT1	51095	.	GRCh37	3	3182289	3182289	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	48	264	0	ENST00000251607.6:c.438A>C	p.Lys146Asn	p.K146N	ENST00000251607	NM_182916.2	146	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS2561.2	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAAGATGC	NONE	.	.	Superfamily_domains:SSF81301,Pfam_domain:PF01743,hmmpanther:PTHR13734,Gene3D:3.30.460.10,hmmpanther:PTHR13734:SF5	.	.	ENSP00000251607	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000251607	Transcript	.	.	ENSG00000072756	17341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.244)	.	tolerated(0.11)	.	TRNT1_HUMAN	TRNT1	HGNC	C9JRS7_HUMAN	.	UPI000013CD08	SNV	TRNT1,missense_variant,p.Lys146Asn,ENST00000251607,;TRNT1,missense_variant,p.Lys146Asn,ENST00000280591,;TRNT1,downstream_gene_variant,,ENST00000413000,;TRNT1,missense_variant,p.Lys146Asn,ENST00000434583,;TRNT1,non_coding_transcript_exon_variant,,ENST00000482311,;TRNT1,downstream_gene_variant,,ENST00000397779,;	540	264	168	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266112	41266112	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs121913228	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	13	137	0	ENST00000349496.5:c.109T>G	p.Ser37Ala	p.S37A	ENST00000349496	NM_001904.3	37	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS2694.1	109	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATTCTGGT	SITE|p.S37A|c.109T>G|67,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.H36R|c.107A>G|3,CODON|p.H36P|c.107A>C|34,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913228,COSM5675,COSM5687,COSM5729	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Ala,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Ala,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Ala,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	389	137	110	SUCCESS
ZNF502	91392	.	GRCh37	3	44763338	44763338	+	synonymous_variant	Silent	SNP	A	A	G	rs779705985	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	130	0	ENST00000296091.4:c.1029A>G	p.Arg343=	p.R343=	ENST00000296091	NM_001134440.1	343	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS2719.1	1029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGAATTCA	BUFFER|p.G347A|c.1040G>C|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000296091	.	4/4	.	.	.	.	.	.	.	.	rs779705985	4/4	PASS	ENST00000296091	Transcript	.	.	ENSG00000196653	23718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN502_HUMAN	ZNF502	HGNC	C9JLT3_HUMAN	.	UPI0000072CFB	SNV	ZNF502,synonymous_variant,p.%3D,ENST00000449836,;ZNF502,synonymous_variant,p.%3D,ENST00000436624,;ZNF502,synonymous_variant,p.%3D,ENST00000296091,;ZNF502,downstream_gene_variant,,ENST00000411443,;	1285	130	114	SUCCESS
SETD2	29072	.	GRCh37	3	47162061	47162061	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	71	1	ENST00000409792.3:c.4065A>G	p.Lys1355=	p.K1355=	ENST00000409792	NM_014159.6	1355	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS2749.2	4065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATTTATC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,synonymous_variant,p.%3D,ENST00000409792,;SETD2,synonymous_variant,p.%3D,ENST00000412450,;SETD2,synonymous_variant,p.%3D,ENST00000445387,;SETD2,synonymous_variant,p.%3D,ENST00000330022,;SETD2,synonymous_variant,p.%3D,ENST00000431180,;	4108	72	56	SUCCESS
STAB1	23166	.	GRCh37	3	52545761	52545761	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	64	0	ENST00000321725.6:c.2883G>T		p.X961_splice	ENST00000321725	NM_015136.2	961	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33768.1	2883	MUTECT|MUSE	.	GGCCTGGTAAG	NONE	.	.	SMART_domains:SM00181,Pfam_domain:PF12947,Gene3D:2.10.25.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	.	.	ENSP00000312946	.	26/69	.	.	.	.	.	.	.	.	.	26/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,synonymous_variant,p.%3D,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	2959	64	47	SUCCESS
SPATA12	353324	.	GRCh37	3	57107893	57107893	+	synonymous_variant	Silent	SNP	A	A	C	rs142843495	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	104	0	ENST00000334325.1:c.171A>C	p.Pro57=	p.P57=	ENST00000334325	NM_181727.1	57	ccA/ccC	0	G:0.0059	G:0.0053	.	G:0	.	C	P	protein_coding	YES	CCDS2879.1	171	MUTECT|MUSE	.	GGTCCAGGTGT	BUFFER|p.P61S|c.181C>T|3	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0001	ENSP00000335392	G:0	2/2	.	.	.	.	.	.	.	.	rs142843495	2/2	PASS	ENST00000334325	Transcript	.	G:0.0014	ENSG00000186451	23221	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	SPT12_HUMAN	SPATA12	HGNC	.	.	UPI00001A9456	SNV	SPATA12,synonymous_variant,p.%3D,ENST00000334325,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000477833,;	846	104	94	SUCCESS
GRM7	2917	.	GRCh37	3	7620197	7620197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	30	223	0	ENST00000357716.4:c.1604C>A	p.Thr535Lys	p.T535K	ENST00000357716	NM_000844.3	535	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS43042.1	1604	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACACAGA	NONE	.	.	hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Pfam_domain:PF07562	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.11)	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Thr535Lys,ENST00000402647,;GRM7,missense_variant,p.Thr535Lys,ENST00000486284,;GRM7,missense_variant,p.Thr535Lys,ENST00000389336,;GRM7,missense_variant,p.Thr535Lys,ENST00000357716,;GRM7,missense_variant,p.Thr535Lys,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Thr535Lys,ENST00000389335,;GRM7,missense_variant,p.Thr535Lys,ENST00000467425,;GRM7,missense_variant,p.Thr535Lys,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	1878	223	182	SUCCESS
FBXW7	55294	.	GRCh37	4	153332420	153332420	+	intron_variant	Intron	SNP	G	G	C	rs749851318	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	59	0	ENST00000281708.4:c.501+35C>G		p.*167*	ENST00000281708	NM_033632.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3777.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAAGTTTCT	NONE	.	.	.	.	.	ENSP00000281708	.	.	.	.	.	.	.	.	.	.	rs749851318	.	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,3_prime_UTR_variant,,ENST00000604872,;FBXW7,intron_variant,,ENST00000603548,;FBXW7,intron_variant,,ENST00000281708,;FBXW7,intron_variant,,ENST00000603841,;FBXW7,downstream_gene_variant,,ENST00000605042,;	.	59	32	SUCCESS
PSAPL1	768239	.	GRCh37	4	7436188	7436188	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1388702475	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	45	0	ENST00000319098.4:c.419G>A	p.Cys140Tyr	p.C140Y	ENST00000319098	NM_001085382.1	140	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47009.1	419	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACAGAGG	NONE	.	.	PROSITE_profiles:PS50015,hmmpanther:PTHR11480:SF39,hmmpanther:PTHR11480,Gene3D:1.10.225.10,SMART_domains:SM00741,PIRSF_domain:PIRSF002431,Superfamily_domains:SSF47862,Prints_domain:PR01797	.	.	ENSP00000317445	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319098	Transcript	.	.	ENSG00000178597	33131	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SAPL1_HUMAN	PSAPL1	HGNC	.	.	UPI000003F80E	SNV	PSAPL1,missense_variant,p.Cys140Tyr,ENST00000319098,;SORCS2,intron_variant,,ENST00000329016,;SORCS2,intron_variant,,ENST00000507866,;SORCS2,intron_variant,,ENST00000511199,;	513	45	38	SUCCESS
ZRSR1	0	.	GRCh37	5	112227702	112227702	+	synonymous_variant	Silent	SNP	A	A	G	rs771432824	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	33	203	0	ENST00000391338.1:c.366A>G	p.Lys122=	p.K122=	ENST00000391338	NM_001204199.1	122	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	.	366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAAGAGAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF9	.	.	ENSP00000375133	.	1/1	.	.	.	.	.	.	.	.	rs771432824	1/1	PASS	ENST00000391338	Transcript	.	.	ENSG00000212643	12456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	U2AFL_HUMAN	ZRSR1	HGNC	.	.	UPI0000137928	SNV	ZRSR1,synonymous_variant,p.%3D,ENST00000391338,;REEP5,intron_variant,,ENST00000504247,;REEP5,intron_variant,,ENST00000545426,;REEP5,intron_variant,,ENST00000261482,;REEP5,intron_variant,,ENST00000379638,;REEP5,intron_variant,,ENST00000513339,;CTC-487M23.5,upstream_gene_variant,,ENST00000602872,;CTC-487M23.8,non_coding_transcript_exon_variant,,ENST00000512790,;REEP5,intron_variant,,ENST00000474542,;CTC-487M23.8,downstream_gene_variant,,ENST00000503445,;CTC-487M23.8,3_prime_UTR_variant,,ENST00000506997,;REEP5,intron_variant,,ENST00000511865,;REEP5,intron_variant,,ENST00000497856,;CTC-487M23.8,downstream_gene_variant,,ENST00000509024,;	390	203	184	SUCCESS
CTNND2	1501	.	GRCh37	5	11385065	11385065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	41	0	ENST00000304623.8:c.889G>A	p.Gly297Ser	p.G297S	ENST00000304623	NM_001332.2	297	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3881.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGCGCG	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.93)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Gly206Ser,ENST00000511377,;CTNND2,missense_variant,p.Gly297Ser,ENST00000304623,;CTNND2,missense_variant,p.Gly297Ser,ENST00000359640,;CTNND2,intron_variant,,ENST00000502551,;CTNND2,intron_variant,,ENST00000503622,;CTNND2,intron_variant,,ENST00000458100,;CTNND2,downstream_gene_variant,,ENST00000513598,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,upstream_gene_variant,,ENST00000506735,;CTNND2,downstream_gene_variant,,ENST00000514132,;CTNND2,upstream_gene_variant,,ENST00000495388,;CTNND2,intron_variant,,ENST00000513588,;CTNND2,intron_variant,,ENST00000504499,;CTNND2,upstream_gene_variant,,ENST00000507430,;	1079	41	32	SUCCESS
SKIV2L2	0	.	GRCh37	5	54603925	54603925	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1358018399	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	439	80	561	0	ENST00000230640.5:c.84A>C	p.Glu28Asp	p.E28D	ENST00000230640	NM_015360.4	28	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS3967.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAAAAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,PIRSF_domain:PIRSF005198	.	.	ENSP00000230640	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.32)	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,missense_variant,p.Glu28Asp,ENST00000230640,;SKIV2L2,5_prime_UTR_variant,,ENST00000545714,;DHX29,upstream_gene_variant,,ENST00000508346,;DHX29,upstream_gene_variant,,ENST00000251636,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000503165,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000504997,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000504388,;SKIV2L2,missense_variant,p.Glu28Asp,ENST00000506750,;DHX29,upstream_gene_variant,,ENST00000504778,;	338	561	520	SUCCESS
MAP3K1	4214	.	GRCh37	5	56155650	56155650	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	69	274	1	ENST00000399503.3:c.742C>T	p.Arg248Ter	p.R248*	ENST00000399503	NM_005921.1	248	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS43318.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCGACGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000382423	.	3/20	.	.	.	.	.	.	.	.	COSM3855701,COSM3855700	3/20	PASS	ENST00000399503	Transcript	1	.	ENSG00000095015	6848	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	M3K1_HUMAN	MAP3K1	HGNC	.	.	UPI000015153B	SNV	MAP3K1,stop_gained,p.Arg248Ter,ENST00000399503,;snoU13,downstream_gene_variant,,ENST00000459264,;AC008937.2,non_coding_transcript_exon_variant,,ENST00000415589,;	742	275	238	SUCCESS
HACE1	57531	.	GRCh37	6	105219250	105219271	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AATTTACAGGAATACCTAAAAA	AATTTACAGGAATACCTAAAAA	-	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	AATTTACAGGAATACCTAAAAA	AATTTACAGGAATACCTAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	110	0	ENST00000262903.4:c.2015-7_2029del		p.X672_splice	ENST00000262903	NM_020771.3	672		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5050.1	?-2029	VARSCANI*|PINDEL	.	CTTGGTAATTTACAGGAATACCTAAAAAATGCA	NONE	.	.	.	.	.	ENSP00000262903	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000262903	Transcript	.	.	ENSG00000085382	21033	.	.	HIGH	18/23	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HACE1_HUMAN	HACE1	HGNC	E5RFX0_HUMAN,E3W983_HUMAN	.	UPI00001602DC	deletion	HACE1,splice_acceptor_variant,,ENST00000518503,;HACE1,splice_acceptor_variant,,ENST00000262903,;HACE1,splice_acceptor_variant,,ENST00000518402,;HACE1,intron_variant,,ENST00000369125,;RNU6-897P,downstream_gene_variant,,ENST00000517135,;HACE1,splice_acceptor_variant,,ENST00000517995,;HACE1,splice_acceptor_variant,,ENST00000369127,;HACE1,splice_acceptor_variant,,ENST00000517424,;HACE1,splice_acceptor_variant,,ENST00000416605,;	?-2306	110	62	SUCCESS
TAB2	23118	.	GRCh37	6	149699603	149699604	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	83	0	ENST00000367456.1:c.553dup	p.Ile185AsnfsTer6	p.I185Nfs*6	ENST00000367456		184	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS5214.1	552-553	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAATATCCA	NONE	.	.	hmmpanther:PTHR10351:SF27,hmmpanther:PTHR10351	.	.	ENSP00000356426	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000367456	Transcript	.	.	ENSG00000055208	17075	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TAB2_HUMAN	TAB2	HGNC	U3KQR0_HUMAN	.	UPI0000073C75	insertion	TAB2,frameshift_variant,p.Ile185AsnfsTer6,ENST00000538427,;TAB2,frameshift_variant,p.Ile185AsnfsTer6,ENST00000286332,;TAB2,frameshift_variant,p.Ile185AsnfsTer6,ENST00000392282,;TAB2,frameshift_variant,p.Ile153AsnfsTer6,ENST00000536230,;TAB2,frameshift_variant,p.Ile111AsnfsTer6,ENST00000606202,;TAB2,frameshift_variant,p.Ile185AsnfsTer6,ENST00000367456,;TAB2,frameshift_variant,p.Ile185AsnfsTer6,ENST00000470466,;	1129-1130	83	65	SUCCESS
C6orf118	168090	.	GRCh37	6	165713968	165713968	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	42	0	ENST00000230301.8:c.761A>C	p.Gln254Pro	p.Q254P	ENST00000230301	NM_144980.3	254	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS5288.1	761	MUTECT|MUSE|VARSCANS	.	TTTTCTGGAGC	NONE	.	.	.	.	.	ENSP00000230301	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,missense_variant,p.Gln150Pro,ENST00000543069,;C6orf118,missense_variant,p.Gln254Pro,ENST00000230301,;	782	42	27	SUCCESS
MRS2	57380	.	GRCh37	6	24423703	24423703	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	59	0	ENST00000378386.3:c.1222-109T>C		p.*408*	ENST00000378386	NM_020662.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4552.1	.	MUTECT|MUSE	.	GACACTGATAC	NONE	.	.	.	.	.	ENSP00000367637	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378386	Transcript	.	.	ENSG00000124532	13785	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRS2_HUMAN	MRS2	HGNC	B4DMD9_HUMAN	.	UPI00000343FA	SNV	MRS2,3_prime_UTR_variant,,ENST00000378353,;MRS2,intron_variant,,ENST00000378386,;MRS2,intron_variant,,ENST00000274747,;MRS2,intron_variant,,ENST00000543597,;MRS2,intron_variant,,ENST00000535061,;MRS2,intron_variant,,ENST00000443868,;GPLD1,downstream_gene_variant,,ENST00000230036,;MRS2,downstream_gene_variant,,ENST00000446191,;MRS2,downstream_gene_variant,,ENST00000483634,;GPLD1,downstream_gene_variant,,ENST00000492917,;	.	59	35	SUCCESS
MRS2	57380	.	GRCh37	6	24423706	24423706	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	60	0	ENST00000378386.3:c.1222-106T>C		p.*408*	ENST00000378386	NM_020662.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4552.1	.	MUTECT|MUSE	.	ACTGATACTGC	NONE	.	.	.	.	.	ENSP00000367637	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378386	Transcript	.	.	ENSG00000124532	13785	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRS2_HUMAN	MRS2	HGNC	B4DMD9_HUMAN	.	UPI00000343FA	SNV	MRS2,intron_variant,,ENST00000378386,;MRS2,intron_variant,,ENST00000274747,;MRS2,intron_variant,,ENST00000543597,;MRS2,intron_variant,,ENST00000535061,;MRS2,intron_variant,,ENST00000443868,;MRS2,downstream_gene_variant,,ENST00000378353,;GPLD1,downstream_gene_variant,,ENST00000230036,;MRS2,downstream_gene_variant,,ENST00000446191,;MRS2,downstream_gene_variant,,ENST00000483634,;GPLD1,downstream_gene_variant,,ENST00000492917,;	.	60	34	SUCCESS
VARS	0	.	GRCh37	6	31750583	31750583	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767158154	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	17	78	0	ENST00000375663.3:c.1802A>G	p.Tyr601Cys	p.Y601C	ENST00000375663	NM_006295.2	601	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34412.1	1802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATAGTCA	NONE	.	.	Superfamily_domains:SSF50677,Pfam_domain:PF00133,TIGRFAM_domain:TIGR00422,Gene3D:3.90.740.10,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF54,HAMAP:MF_02004	.	.	ENSP00000364815	.	15/30	.	.	.	.	.	.	.	.	rs767158154	15/30	PASS	ENST00000375663	Transcript	.	.	ENSG00000204394	12651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SYVC_HUMAN	VARS	HGNC	A2ABF4_HUMAN	.	UPI00001366EA	SNV	VARS,missense_variant,p.Tyr601Cys,ENST00000375663,;VARS,intron_variant,,ENST00000444930,;VARS,upstream_gene_variant,,ENST00000428445,;Y_RNA,upstream_gene_variant,,ENST00000364685,;VARS,upstream_gene_variant,,ENST00000482996,;VARS,upstream_gene_variant,,ENST00000483275,;VARS,upstream_gene_variant,,ENST00000470953,;VARS,non_coding_transcript_exon_variant,,ENST00000461328,;VARS,non_coding_transcript_exon_variant,,ENST00000474643,;VARS,downstream_gene_variant,,ENST00000495010,;VARS,upstream_gene_variant,,ENST00000463184,;VARS,upstream_gene_variant,,ENST00000461874,;VARS,upstream_gene_variant,,ENST00000479051,;VARS,downstream_gene_variant,,ENST00000489979,;VARS,upstream_gene_variant,,ENST00000459667,;	2243	78	111	SUCCESS
DAXX	1616	.	GRCh37	6	33287996	33288025	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AGGGCCCTGGGAGACAAAGAAGTTTCTCTA	AGGGCCCTGGGAGACAAAGAAGTTTCTCTA	-	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	AGGGCCCTGGGAGACAAAGAAGTTTCTCTA	AGGGCCCTGGGAGACAAAGAAGTTTCTCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	46	0	ENST00000374542.5:c.1252-24_1257del		p.X418_splice	ENST00000374542	NM_001141970.1	418		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4776.1	?-1257	VARSCANI*|PINDEL	.	TCCACTAGGGCCCTGGGAGACAAAGAAGTTTCTCTAAGGAA	NONE	.	.	.	.	.	ENSP00000363668	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000374542	Transcript	.	.	ENSG00000204209	2681	.	.	HIGH	4/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAXX_HUMAN	DAXX	HGNC	Q5STR5_HUMAN,Q4VX54_HUMAN,A2AB94_HUMAN	.	UPI0000128ED8	deletion	DAXX,splice_acceptor_variant,,ENST00000374542,;DAXX,splice_acceptor_variant,,ENST00000266000,;DAXX,splice_acceptor_variant,,ENST00000414083,;ZBTB22,upstream_gene_variant,,ENST00000431845,;ZBTB22,upstream_gene_variant,,ENST00000418724,;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000453407,;DAXX,downstream_gene_variant,,ENST00000446403,;DAXX,downstream_gene_variant,,ENST00000446511,;DAXX,splice_acceptor_variant,,ENST00000468536,;DAXX,splice_acceptor_variant,,ENST00000477162,;DAXX,downstream_gene_variant,,ENST00000477370,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,non_coding_transcript_exon_variant,,ENST00000490173,;DAXX,downstream_gene_variant,,ENST00000498030,;	?-1462	46	48	SUCCESS
TCP11	6954	.	GRCh37	6	35096885	35096885	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1300260237	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	118	0	ENST00000512012.1:c.311C>A	p.Pro104His	p.P104H	ENST00000512012		104	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47413.1	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGGAGTT	NONE	.	.	hmmpanther:PTHR12832:SF16,hmmpanther:PTHR12832,Pfam_domain:PF05794	.	.	ENSP00000308708	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000311875	Transcript	.	.	ENSG00000124678	11658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TCP11_HUMAN	TCP11	HGNC	D6RGY5_HUMAN,D6RGC0_HUMAN,D6RG02_HUMAN,D6R9R9_HUMAN,D6R989_HUMAN,B7Z7Q2_HUMAN	.	UPI0000EE4D7F	SNV	TCP11,missense_variant,p.Pro42His,ENST00000244645,;TCP11,missense_variant,p.Pro117His,ENST00000311875,;TCP11,missense_variant,p.Pro104His,ENST00000512012,;TCP11,missense_variant,p.Pro66His,ENST00000412155,;TCP11,missense_variant,p.Pro41His,ENST00000507706,;TCP11,missense_variant,p.Pro41His,ENST00000418521,;TCP11,missense_variant,p.Pro71His,ENST00000373974,;TCP11,missense_variant,p.Pro42His,ENST00000373979,;TCP11,missense_variant,p.Pro112His,ENST00000444780,;TCP11,missense_variant,p.Pro42His,ENST00000492680,;TCP11,missense_variant,p.Pro41His,ENST00000505400,;TCP11,intron_variant,,ENST00000486638,;AL138721.1,upstream_gene_variant,,ENST00000583622,;TCP11,non_coding_transcript_exon_variant,,ENST00000394696,;TCP11,non_coding_transcript_exon_variant,,ENST00000510465,;TCP11,non_coding_transcript_exon_variant,,ENST00000445851,;TCP11,missense_variant,p.Pro80Thr,ENST00000469514,;TCP11,missense_variant,p.Pro34Thr,ENST00000427376,;TCP11,missense_variant,p.Pro34Thr,ENST00000505335,;TCP11,3_prime_UTR_variant,,ENST00000505911,;TCP11,3_prime_UTR_variant,,ENST00000455706,;TCP11,3_prime_UTR_variant,,ENST00000504758,;TCP11,3_prime_UTR_variant,,ENST00000479418,;TCP11,intron_variant,,ENST00000509988,;TCP11,downstream_gene_variant,,ENST00000503908,;	768	119	106	SUCCESS
SLC29A1	2030	.	GRCh37	6	44199123	44199123	+	synonymous_variant	Silent	SNP	A	A	G	rs1169695611	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	22	93	0	ENST00000371708.1:c.789A>G	p.Lys263=	p.K263=	ENST00000371708		263	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS4908.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAAGAGGA	NONE	.	.	hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF9,Pfam_domain:PF01733,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379	.	.	ENSP00000377424	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000393841	Transcript	.	.	ENSG00000112759	11003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S29A1_HUMAN	SLC29A1	HGNC	C8KHU2_HUMAN,C8KHU1_HUMAN	.	UPI0000001BCC	SNV	SLC29A1,synonymous_variant,p.%3D,ENST00000371740,;SLC29A1,synonymous_variant,p.%3D,ENST00000371731,;SLC29A1,synonymous_variant,p.%3D,ENST00000313248,;SLC29A1,synonymous_variant,p.%3D,ENST00000371713,;SLC29A1,synonymous_variant,p.%3D,ENST00000371755,;SLC29A1,synonymous_variant,p.%3D,ENST00000393844,;SLC29A1,synonymous_variant,p.%3D,ENST00000371724,;SLC29A1,synonymous_variant,p.%3D,ENST00000393841,;SLC29A1,synonymous_variant,p.%3D,ENST00000427851,;SLC29A1,synonymous_variant,p.%3D,ENST00000371708,;SLC29A1,non_coding_transcript_exon_variant,,ENST00000472176,;	1280	93	79	SUCCESS
CD109	135228	.	GRCh37	6	74481156	74481156	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	40	0	ENST00000287097.5:c.1679A>C	p.Lys560Thr	p.K560T	ENST00000287097		560	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS4982.1	1679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAAGCTAT	NONE	.	.	Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	.	.	ENSP00000287097	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000287097	Transcript	.	.	ENSG00000156535	21685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.15)	.	CD109_HUMAN	CD109	HGNC	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN	.	UPI000013DE92	SNV	CD109,missense_variant,p.Lys560Thr,ENST00000287097,;CD109,missense_variant,p.Lys560Thr,ENST00000437994,;CD109,missense_variant,p.Lys483Thr,ENST00000422508,;	1791	40	35	SUCCESS
THSD7A	221981	.	GRCh37	7	11514132	11514132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	95	0	ENST00000423059.4:c.2081G>T	p.Cys694Phe	p.C694F	ENST00000423059	NM_015204.2	694	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS47543.1	2081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCAAGGA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000406482	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,missense_variant,p.Cys694Phe,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;THSD7A,intron_variant,,ENST00000497575,;	2333	95	86	SUCCESS
SLC13A1	6561	.	GRCh37	7	122774580	122774580	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	87	0	ENST00000194130.2:c.816C>T	p.Arg272=	p.R272=	ENST00000194130	NM_022444.3	272	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5786.1	816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATAGCGTCT	NONE	.	.	hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF65,Pfam_domain:PF00939	.	.	ENSP00000194130	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000194130	Transcript	.	.	ENSG00000081800	10916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S13A1_HUMAN	SLC13A1	HGNC	Q75MH3_HUMAN,Q75LT0_HUMAN,A4D0X1_HUMAN	.	UPI0000049F9D	SNV	SLC13A1,synonymous_variant,p.%3D,ENST00000194130,;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;	856	87	77	SUCCESS
AKR1B10	57016	.	GRCh37	7	134225837	134225837	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	34	0	ENST00000359579.4:c.947A>T	p.Tyr316Phe	p.Y316F	ENST00000359579	NM_020299.4	316	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS5832.1	947	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATATTGAG	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF156,PIRSF_domain:PIRSF000097	.	.	ENSP00000352584	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000359579	Transcript	.	.	ENSG00000198074	382	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.42)	.	AK1BA_HUMAN	AKR1B10	HGNC	.	.	UPI00000362E9	SNV	AKR1B10,missense_variant,p.Tyr316Phe,ENST00000359579,;AKR1B10,non_coding_transcript_exon_variant,,ENST00000498818,;AKR1B10,non_coding_transcript_exon_variant,,ENST00000496435,;AKR1B10,downstream_gene_variant,,ENST00000475559,;	1267	34	39	SUCCESS
TMUB1	83590	.	GRCh37	7	150779558	150779558	+	synonymous_variant	Silent	SNP	C	C	T	rs1243690279	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	33	127	0	ENST00000297533.4:c.93G>A	p.Thr31=	p.T31=	ENST00000297533	NM_001136044.1	31	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5920.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCGTTGA	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF3	.	.	ENSP00000376565	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000392818	Transcript	.	.	ENSG00000164897	21709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMUB1_HUMAN	TMUB1	HGNC	C9JE12_HUMAN,C9JCW7_HUMAN	.	UPI0000071C66	SNV	TMUB1,synonymous_variant,p.%3D,ENST00000488752,;TMUB1,synonymous_variant,p.%3D,ENST00000297533,;TMUB1,synonymous_variant,p.%3D,ENST00000482202,;TMUB1,synonymous_variant,p.%3D,ENST00000392818,;TMUB1,synonymous_variant,p.%3D,ENST00000462940,;TMUB1,synonymous_variant,p.%3D,ENST00000476627,;TMUB1,synonymous_variant,p.%3D,ENST00000492838,;AGAP3,upstream_gene_variant,,ENST00000473312,;FASTK,upstream_gene_variant,,ENST00000297532,;AGAP3,upstream_gene_variant,,ENST00000479901,;FASTK,upstream_gene_variant,,ENST00000353841,;AGAP3,upstream_gene_variant,,ENST00000463381,;AGAP3,upstream_gene_variant,,ENST00000469901,;AGAP3,upstream_gene_variant,,ENST00000397238,;FASTK,upstream_gene_variant,,ENST00000540185,;FASTK,upstream_gene_variant,,ENST00000482571,;AGAP3,upstream_gene_variant,,ENST00000490097,;FASTK,upstream_gene_variant,,ENST00000478477,;FASTK,upstream_gene_variant,,ENST00000489884,;FASTK,upstream_gene_variant,,ENST00000496663,;FASTK,upstream_gene_variant,,ENST00000461979,;FASTK,upstream_gene_variant,,ENST00000460980,;FASTK,upstream_gene_variant,,ENST00000482806,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000469237,;FASTK,upstream_gene_variant,,ENST00000459800,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000467237,;	451	127	126	SUCCESS
TTYH3	80727	.	GRCh37	7	2687142	2687142	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	45	0	ENST00000258796.7:c.496C>A	p.Arg166=	p.R166=	ENST00000258796	NM_025250.2	166	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34588.1	496	MUTECT|MUSE|VARSCANS	.	CCCTGCGAGCC	NONE	.	.	hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF4,Pfam_domain:PF04906	.	.	ENSP00000258796	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000258796	Transcript	.	.	ENSG00000136295	22222	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTYH3_HUMAN	TTYH3	HGNC	.	.	UPI000020E9F9	SNV	TTYH3,synonymous_variant,p.%3D,ENST00000258796,;TTYH3,synonymous_variant,p.%3D,ENST00000407643,;TTYH3,upstream_gene_variant,,ENST00000403167,;TTYH3,downstream_gene_variant,,ENST00000400376,;TTYH3,upstream_gene_variant,,ENST00000477439,;	701	45	50	SUCCESS
KBTBD2	25948	.	GRCh37	7	32914636	32914636	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	97	0	ENST00000304056.4:c.304G>T	p.Glu102Ter	p.E102*	ENST00000304056	NM_015483.2	102	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34614.1	304	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCTACAG	NONE	.	.	hmmpanther:PTHR24412:SF124,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000302586	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000304056	Transcript	.	.	ENSG00000170852	21751	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KBTB2_HUMAN	KBTBD2	HGNC	C9JZ29_HUMAN,C9JI11_HUMAN	.	UPI0000036156	SNV	KBTBD2,stop_gained,p.Glu102Ter,ENST00000304056,;AVL9,intron_variant,,ENST00000404479,;KBTBD2,downstream_gene_variant,,ENST00000423022,;KBTBD2,downstream_gene_variant,,ENST00000452926,;KBTBD2,downstream_gene_variant,,ENST00000453627,;KBTBD2,downstream_gene_variant,,ENST00000424468,;KBTBD2,non_coding_transcript_exon_variant,,ENST00000485611,;KBTBD2,non_coding_transcript_exon_variant,,ENST00000477129,;	1004	98	73	SUCCESS
ZNF853	54753	.	GRCh37	7	6662092	6662092	+	synonymous_variant	Silent	SNP	C	C	T	rs771337075	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	35	0	ENST00000457543.3:c.1470C>T	p.Cys490=	p.C490=	ENST00000457543	NM_017560.1	490	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS59048.1	1470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGCGGCAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000455585	.	3/3	.	.	.	.	.	.	.	.	rs771337075	3/3	PASS	ENST00000457543	Transcript	.	.	ENSG00000236609	21767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN853_HUMAN	ZNF853	HGNC	.	.	UPI00018E24EF	SNV	ZNF853,synonymous_variant,p.%3D,ENST00000457543,;	2028	35	17	SUCCESS
STAG3L2	442582	.	GRCh37	7	74239547	74239547	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	rs782044833	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	19	278	0	ENST00000380775.3:n.1165+59208C>T		p.*389*	ENST00000380775		91		0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5576.1	273	RADIA|VARSCANS	.	GGGCAGGGAGG	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF35	.	.	ENSP00000385491	.	4/16	.	.	.	.	.	.	.	.	rs782044833	4/16	PASS	ENST00000405086	Transcript	.	.	ENSG00000196275	30775	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GTD2A_HUMAN	GTF2IRD2	HGNC	.	.	UPI0000246D34	SNV	GTF2IRD2,synonymous_variant,p.%3D,ENST00000405086,;GTF2IRD2,synonymous_variant,p.%3D,ENST00000453619,;GTF2IRD2,synonymous_variant,p.%3D,ENST00000361071,;GTF2IRD2,non_coding_transcript_exon_variant,,ENST00000457594,;GTF2IRD2,upstream_gene_variant,,ENST00000484624,;STAG3L2,intron_variant,,ENST00000380775,;	463	278	197	SUCCESS
ZHX2	22882	.	GRCh37	8	123966039	123966039	+	synonymous_variant	Silent	SNP	G	G	A	rs1343824089	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	41	133	0	ENST00000314393.4:c.2289G>A	p.Lys763=	p.K763=	ENST00000314393	NM_014943.3	763	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS6336.1	2289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCCCTC	NONE	.	.	hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5	.	.	ENSP00000314709	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314393	Transcript	.	.	ENSG00000178764	18513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,synonymous_variant,p.%3D,ENST00000314393,;ZHX2,downstream_gene_variant,,ENST00000534247,;	3124	133	195	SUCCESS
C8orf76	84933	.	GRCh37	8	124243859	124243859	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	78	0	ENST00000276704.4:c.496A>T	p.Asn166Tyr	p.N166Y	ENST00000276704	NM_032847.2	166	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS6341.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTTCCAAG	NONE	.	.	hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000276704	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000276704	Transcript	.	.	ENSG00000189376	25924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated(1)	.	CH076_HUMAN	C8orf76	HGNC	.	.	UPI000006E851	SNV	C8orf76,missense_variant,p.Asn166Tyr,ENST00000276704,;ZHX1-C8ORF76,missense_variant,p.Asn134Tyr,ENST00000357082,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,intron_variant,,ENST00000519791,;C8orf76,upstream_gene_variant,,ENST00000517760,;C8orf76,non_coding_transcript_exon_variant,,ENST00000518996,;	548	78	91	SUCCESS
KIFC2	90990	.	GRCh37	8	145693163	145693163	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	24	146	0	ENST00000301332.2:c.681+1G>A		p.X227_splice	ENST00000301332	NM_145754.2	227		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6427.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGTGAGG	NONE	.	.	.	.	.	ENSP00000301332	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301332	Transcript	.	.	ENSG00000167702	29530	.	.	HIGH	6/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KIFC2_HUMAN	KIFC2	HGNC	.	.	UPI000006D3B2	SNV	KIFC2,splice_donor_variant,,ENST00000301331,;KIFC2,splice_donor_variant,,ENST00000301332,;CYHR1,upstream_gene_variant,,ENST00000530637,;CYHR1,upstream_gene_variant,,ENST00000533764,;CYHR1,upstream_gene_variant,,ENST00000530374,;CYHR1,upstream_gene_variant,,ENST00000438911,;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000424149,;CYHR1,upstream_gene_variant,,ENST00000403000,;CYHR1,upstream_gene_variant,,ENST00000306145,;CTD-2517M22.16,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,splice_donor_variant,,ENST00000533114,;KIFC2,non_coding_transcript_exon_variant,,ENST00000529644,;KIFC2,upstream_gene_variant,,ENST00000529864,;CYHR1,upstream_gene_variant,,ENST00000524623,;KIFC2,upstream_gene_variant,,ENST00000531425,;	.	146	191	SUCCESS
GRIN1	2902	.	GRCh37	9	140058118	140058118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs1131691870	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	81	1	ENST00000371561.3:c.2441C>A	p.Ala814Asp	p.A814D	ENST00000371561	NM_007327.3	814	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS55354.1	2504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCCGGTG	NONE	.	.	hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Pfam_domain:PF00060,Prints_domain:PR00177	.	.	ENSP00000360608	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Ala835Asp,ENST00000371555,;GRIN1,missense_variant,p.Ala814Asp,ENST00000315048,;GRIN1,missense_variant,p.Ala814Asp,ENST00000371561,;GRIN1,missense_variant,p.Ala814Asp,ENST00000371550,;GRIN1,missense_variant,p.Ala814Asp,ENST00000350902,;GRIN1,missense_variant,p.Ala835Asp,ENST00000371553,;GRIN1,missense_variant,p.Ala814Asp,ENST00000371559,;GRIN1,missense_variant,p.Ala835Asp,ENST00000371546,;GRIN1,missense_variant,p.Ala835Asp,ENST00000371560,;GRIN1,splice_region_variant,,ENST00000460273,;GRIN1,splice_region_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000473811,;GRIN1,downstream_gene_variant,,ENST00000485413,;GRIN1,upstream_gene_variant,,ENST00000462584,;	2510	82	60	SUCCESS
CUBN	8029	.	GRCh37	10	17147494	17147494	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	84	0	ENST00000377833.4:c.1192A>C	p.Ile398Leu	p.I398L	ENST00000377833	NM_001081.3	398	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS7113.1	1192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAATATTAC	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000367064	.	11/67	.	.	.	.	.	.	.	.	.	11/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.07)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ile398Leu,ENST00000377833,;	1258	84	57	SUCCESS
CCNYL2	414194	.	GRCh37	10	42905481	42905481	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	67	0	ENST00000483242.3:n.1446C>A		p.*482*	ENST00000483242				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGTCTTT	NONE	.	.	.	.	.	.	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000483242	Transcript	.	.	ENSG00000182632	23495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CCNYL2	HGNC	.	.	.	SNV	CCNYL2,non_coding_transcript_exon_variant,,ENST00000483242,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000472090,;CCNYL2,downstream_gene_variant,,ENST00000426433,;	1446	67	72	SUCCESS
HERC4	26091	.	GRCh37	10	69750905	69750906	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	492	158	629	0	ENST00000395198.3:c.1322dup	p.Leu441PhefsTer4	p.L441Ffs*4	ENST00000395198	NM_022079.2	441	tta/ttTa	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS41533.1	1322-1323	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGCTAAAAA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF290	.	.	ENSP00000378624	.	12/26	.	.	.	.	.	.	.	.	COSM293546	12/26	PASS	ENST00000395198	Transcript	.	.	ENSG00000148634	24521	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	HERC4_HUMAN	HERC4	HGNC	D6RFK9_HUMAN	.	UPI00004C6F56	insertion	HERC4,frameshift_variant,p.Leu441PhefsTer4,ENST00000373700,;HERC4,frameshift_variant,p.Leu331PhefsTer4,ENST00000277817,;HERC4,frameshift_variant,p.Leu441PhefsTer4,ENST00000412272,;HERC4,frameshift_variant,p.Leu441PhefsTer4,ENST00000395198,;HERC4,3_prime_UTR_variant,,ENST00000395187,;HERC4,3_prime_UTR_variant,,ENST00000473533,;HERC4,3_prime_UTR_variant,,ENST00000427635,;HERC4,upstream_gene_variant,,ENST00000460168,;	1570-1571	629	650	SUCCESS
GATA3	2625	.	GRCh37	10	8106026	8106026	+	synonymous_variant	Silent	SNP	C	C	T	rs138698611	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	147	0	ENST00000346208.3:c.846C>T	p.Tyr282=	p.Y282=	ENST00000346208		282	taC/taT	0	T:0	.	.	.	.	T	Y	protein_coding	YES	CCDS31143.1	849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTACCTGTG	NONE	byCluster	.	PROSITE_profiles:PS50114,hmmpanther:PTHR10071:SF106,hmmpanther:PTHR10071,PROSITE_patterns:PS00344,Pfam_domain:PF00320,Gene3D:3.30.50.10,SMART_domains:SM00401,PIRSF_domain:PIRSF003027,Superfamily_domains:SSF57716,Prints_domain:PR00619	.	T:0.0001	ENSP00000368632	.	4/6	.	.	.	.	.	.	.	.	rs138698611	4/6	PASS	ENST00000379328	Transcript	1	.	ENSG00000107485	4172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATA3_HUMAN	GATA3	HGNC	.	.	UPI000002AA34	SNV	GATA3,synonymous_variant,p.%3D,ENST00000346208,;GATA3,synonymous_variant,p.%3D,ENST00000379328,;GATA3,intron_variant,,ENST00000461472,;	1417	147	102	SUCCESS
ZMIZ1	57178	.	GRCh37	10	81064989	81064989	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	73	0	ENST00000334512.5:c.2354+1G>C		p.X785_splice	ENST00000334512	NM_020338.3	785		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7357.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAGTGAGT	NONE	.	.	.	.	.	ENSP00000334474	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334512	Transcript	.	.	ENSG00000108175	16493	.	.	HIGH	20/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZMIZ1_HUMAN	ZMIZ1	HGNC	A0PJD4_HUMAN	.	UPI0000161744	SNV	ZMIZ1,splice_donor_variant,,ENST00000334512,;ZMIZ1,upstream_gene_variant,,ENST00000446377,;	.	73	38	SUCCESS
MAT1A	4143	.	GRCh37	10	82034403	82034403	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	65	0	ENST00000372213.3:c.958T>A	p.Tyr320Asn	p.Y320N	ENST00000372213	NM_000429.2	320	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS7365.1	958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATAGGAAA	NONE	.	.	HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Gene3D:3.30.300.10,Pfam_domain:PF02773,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	.	.	ENSP00000361287	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000372213	Transcript	1	.	ENSG00000151224	6903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	METK1_HUMAN	MAT1A	HGNC	.	.	UPI000012EFF3	SNV	MAT1A,missense_variant,p.Tyr320Asn,ENST00000372213,;MAT1A,downstream_gene_variant,,ENST00000455001,;MAT1A,non_coding_transcript_exon_variant,,ENST00000480845,;MAT1A,non_coding_transcript_exon_variant,,ENST00000485270,;	1219	65	43	SUCCESS
KMT2A	4297	.	GRCh37	11	118369130	118369130	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	38	0	ENST00000534358.1:c.5848C>G	p.Leu1950Val	p.L1950V	ENST00000534358	NM_005933.3	1950	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS55791.1	5848	MUTECT|MUSE	.	GCTGTCTCACA	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,Pfam_domain:PF13771,SMART_domains:SM00249,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	22/36	.	.	.	.	.	.	.	.	.	22/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,missense_variant,p.Leu1947Val,ENST00000389506,;KMT2A,missense_variant,p.Leu1909Val,ENST00000354520,;KMT2A,missense_variant,p.Leu1950Val,ENST00000534358,;KMT2A,upstream_gene_variant,,ENST00000528278,;	5871	38	29	SUCCESS
ZDHHC13	54503	.	GRCh37	11	19173800	19173800	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	142	0	ENST00000446113.2:c.680C>T	p.Ala227Val	p.A227V	ENST00000446113	NM_019028.2	227	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44550.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCAGGAA	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF16,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000400113	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000446113	Transcript	.	.	ENSG00000177054	18413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.05)	.	ZDH13_HUMAN	ZDHHC13	HGNC	.	.	UPI000015F967	SNV	ZDHHC13,missense_variant,p.Ala97Val,ENST00000399351,;ZDHHC13,missense_variant,p.Ala227Val,ENST00000446113,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000530698,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532812,;ZDHHC13,downstream_gene_variant,,ENST00000532026,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000525490,;	801	142	100	SUCCESS
OR8K3	219473	.	GRCh37	11	56086232	56086232	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	108	0	ENST00000312711.1:c.450C>T	p.Leu150=	p.L150=	ENST00000312711	NM_001005202.1	150	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31527.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTCTATTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323555	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312711	Transcript	.	.	ENSG00000181689	15313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8K3_HUMAN	OR8K3	HGNC	.	.	UPI0000041BE7	SNV	OR8K3,synonymous_variant,p.%3D,ENST00000312711,;	450	108	85	SUCCESS
FAM111A	63901	.	GRCh37	11	58919496	58919496	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	41	143	0	ENST00000361723.3:c.355G>T	p.Glu119Ter	p.E119*	ENST00000361723	NM_198847.2	119	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS7973.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGAAACT	NONE	.	.	hmmpanther:PTHR14389:SF14,hmmpanther:PTHR14389	.	.	ENSP00000434435	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000528737	Transcript	.	.	ENSG00000166801	24725	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F111A_HUMAN	FAM111A	HGNC	E9PR18_HUMAN,E9PNQ0_HUMAN	.	UPI00001FA7CB	SNV	FAM111A,stop_gained,p.Glu119Ter,ENST00000361723,;FAM111A,stop_gained,p.Glu119Ter,ENST00000420244,;FAM111A,stop_gained,p.Glu119Ter,ENST00000528737,;FAM111A,stop_gained,p.Glu119Ter,ENST00000531147,;FAM111A,stop_gained,p.Glu119Ter,ENST00000533703,;FAM111A,stop_gained,p.Glu119Ter,ENST00000527629,;FAM111A,downstream_gene_variant,,ENST00000531408,;FAM111A,downstream_gene_variant,,ENST00000529358,;FAM111A,downstream_gene_variant,,ENST00000532790,;	3173	143	118	SUCCESS
PLCB3	5331	.	GRCh37	11	64023939	64023939	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	110	0	ENST00000279230.6:c.790T>A	p.Tyr264Asn	p.Y264N	ENST00000279230		264	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS8064.1	790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTACCCG	NONE	.	.	Superfamily_domains:SSF47473,PIRSF_domain:PIRSF000956,Gene3D:1.10.238.10,Pfam_domain:PF09279,hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336	.	.	ENSP00000443631	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000540288	Transcript	.	.	ENSG00000149782	9056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PLCB3_HUMAN	PLCB3	HGNC	.	.	UPI0000131AFF	SNV	PLCB3,missense_variant,p.Tyr197Asn,ENST00000325234,;PLCB3,missense_variant,p.Tyr264Asn,ENST00000540288,;PLCB3,missense_variant,p.Tyr264Asn,ENST00000279230,;	893	110	107	SUCCESS
ARFIP2	23647	.	GRCh37	11	6500162	6500162	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	65	0	ENST00000254584.2:c.343T>C	p.Phe115Leu	p.F115L	ENST00000254584	NM_012402.3	115	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7765.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAATCGTT	NONE	.	.	hmmpanther:PTHR12141:SF3,hmmpanther:PTHR12141,Pfam_domain:PF06456,SMART_domains:SM01015	.	.	ENSP00000254584	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000254584	Transcript	.	.	ENSG00000132254	17160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(1)	.	ARFP2_HUMAN	ARFIP2	HGNC	B4DXH2_HUMAN	.	UPI000012566A	SNV	ARFIP2,missense_variant,p.Phe115Leu,ENST00000525235,;ARFIP2,missense_variant,p.Phe77Leu,ENST00000423813,;ARFIP2,missense_variant,p.Phe115Leu,ENST00000396777,;ARFIP2,missense_variant,p.Phe115Leu,ENST00000254584,;ARFIP2,missense_variant,p.Phe30Leu,ENST00000445086,;TRIM3,upstream_gene_variant,,ENST00000345851,;TIMM10B,upstream_gene_variant,,ENST00000254616,;TRIM3,upstream_gene_variant,,ENST00000529529,;TRIM3,upstream_gene_variant,,ENST00000537602,;TRIM3,upstream_gene_variant,,ENST00000359518,;TRIM3,upstream_gene_variant,,ENST00000525074,;TIMM10B,upstream_gene_variant,,ENST00000530751,;ARFIP2,missense_variant,p.Phe115Leu,ENST00000531037,;TIMM10B,upstream_gene_variant,,ENST00000531462,;TIMM10B,upstream_gene_variant,,ENST00000533379,;ARFIP2,downstream_gene_variant,,ENST00000525329,;ARFIP2,downstream_gene_variant,,ENST00000530410,;TIMM10B,upstream_gene_variant,,ENST00000472836,;ARFIP2,downstream_gene_variant,,ENST00000529847,;TIMM10B,upstream_gene_variant,,ENST00000528908,;TIMM10B,upstream_gene_variant,,ENST00000464330,;	427	65	45	SUCCESS
NLRP14	338323	.	GRCh37	11	7078963	7078963	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs143611582	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	83	0	ENST00000299481.4:c.2347A>G	p.Ile783Val	p.I783V	ENST00000299481	NM_176822.3	783	Atc/Gtc	0	G:0.0007	G:0.0008	.	G:0	.	G	I/V	protein_coding	YES	CCDS7776.1	2347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCATCAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106:SF82,hmmpanther:PTHR24106	G:0	G:0.0014	ENSP00000299481	G:0	7/12	.	.	.	.	.	.	.	.	rs143611582	7/12	common_in_exac	ENST00000299481	Transcript	.	G:0.0002	ENSG00000158077	22939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	G:0	tolerated(0.37)	.	NAL14_HUMAN	NLRP14	HGNC	.	.	UPI0000167F6E	SNV	NLRP14,missense_variant,p.Ile783Val,ENST00000299481,;	2693	83	47	SUCCESS
PRSS23	11098	.	GRCh37	11	86518742	86518742	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	93	0	ENST00000280258.5:c.57G>C	p.Gly19=	p.G19=	ENST00000280258	NM_007173.4	19	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8278.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGCAAGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10	.	.	ENSP00000280258	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000280258	Transcript	.	.	ENSG00000150687	14370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS23_HUMAN	PRSS23	HGNC	E9PRR2_HUMAN,B7ZB43_HUMAN	.	UPI0000048EBC	SNV	PRSS23,synonymous_variant,p.%3D,ENST00000527521,;PRSS23,synonymous_variant,p.%3D,ENST00000441050,;PRSS23,synonymous_variant,p.%3D,ENST00000280258,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000532234,;	482	93	65	SUCCESS
CNTN1	1272	.	GRCh37	12	41387040	41387040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	36	131	0	ENST00000347616.1:c.2082A>G	p.Ile694Met	p.I694M	ENST00000347616		694	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS8737.1	2082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATACCATC	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50853	.	.	ENSP00000447006	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.19)	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Ile694Met,ENST00000551295,;CNTN1,missense_variant,p.Ile694Met,ENST00000347616,;CNTN1,missense_variant,p.Ile683Met,ENST00000348761,;	2199	131	108	SUCCESS
SLC4A8	9498	.	GRCh37	12	51818690	51818690	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	59	0	ENST00000453097.2:c.-82G>T		p.*28*	ENST00000453097	NM_001039960.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44890.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTGATCTG	NONE	.	.	.	.	.	ENSP00000405812	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,5_prime_UTR_variant,,ENST00000394856,;SLC4A8,5_prime_UTR_variant,,ENST00000453097,;SLC4A8,intron_variant,,ENST00000535225,;SLC4A8,intron_variant,,ENST00000358657,;SLC4A8,upstream_gene_variant,,ENST00000514353,;RP11-607P23.1,upstream_gene_variant,,ENST00000604939,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000548811,;SLC4A8,intron_variant,,ENST00000548352,;SLC4A8,intron_variant,,ENST00000547697,;SLC4A8,intron_variant,,ENST00000604314,;SLC4A8,upstream_gene_variant,,ENST00000546497,;SLC4A8,upstream_gene_variant,,ENST00000319957,;	136	59	73	SUCCESS
NBEA	26960	.	GRCh37	13	35624441	35624441	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	124	0	ENST00000400445.3:c.881A>G	p.His294Arg	p.H294R	ENST00000400445	NM_015678.4	294	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45026.1	881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCATTTTG	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.60.120.200,Pfam_domain:PF13385,Superfamily_domains:SSF49899	.	.	ENSP00000383295	.	6/58	.	.	.	.	.	.	.	.	.	6/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.His294Arg,ENST00000400445,;NBEA,missense_variant,p.His294Arg,ENST00000540320,;NBEA,missense_variant,p.His294Arg,ENST00000310336,;NBEA,missense_variant,p.His294Arg,ENST00000379939,;	1415	124	76	SUCCESS
SIAH3	283514	.	GRCh37	13	46358106	46358106	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	42	1	ENST00000400405.2:c.222C>T	p.His74=	p.H74=	ENST00000400405	NM_198849.2	74	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS41883.1	222	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGGTGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10315:SF21,hmmpanther:PTHR10315	.	.	ENSP00000383256	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400405	Transcript	.	.	ENSG00000215475	30553	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIAH3_HUMAN	SIAH3	HGNC	.	.	UPI00001C1F5A	SNV	SIAH3,synonymous_variant,p.%3D,ENST00000400405,;	329	43	24	SUCCESS
OR11H12	440153	.	GRCh37	14	19378063	19378063	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747548597	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	325	28	494	0	ENST00000550708.1:c.470C>T	p.Ala157Val	p.A157V	ENST00000550708	NM_001013354.1	157	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32017.1	470	MUTECT|MUSE	.	CTGTGCCAAAC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000449002	.	1/1	.	.	.	.	.	.	.	.	rs747548597,COSM552238	1/1	PASS	ENST00000550708	Transcript	.	.	ENSG00000257115	30738	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.014)	.	tolerated(0.71)	0,1	O11HC_HUMAN	OR11H12	HGNC	.	.	UPI00004EAFF2	SNV	OR11H12,missense_variant,p.Ala157Val,ENST00000550708,;	542	494	354	SUCCESS
MIPOL1	145282	.	GRCh37	14	37754588	37754588	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	82	0	ENST00000327441.7:c.559T>G	p.Leu187Val	p.L187V	ENST00000327441	NM_138731.6	187	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS9664.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAATTAGCC	NONE	.	.	hmmpanther:PTHR22089	.	.	ENSP00000333539	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000327441	Transcript	.	.	ENSG00000151338	21460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	MIPO1_HUMAN	MIPOL1	HGNC	G5EA54_HUMAN,G3V3K8_HUMAN,G3V2C4_HUMAN	.	UPI00000701B8	SNV	MIPOL1,missense_variant,p.Leu156Val,ENST00000556451,;MIPOL1,missense_variant,p.Leu6Val,ENST00000536774,;MIPOL1,missense_variant,p.Leu187Val,ENST00000327441,;MIPOL1,missense_variant,p.Leu187Val,ENST00000537471,;MIPOL1,missense_variant,p.Leu187Val,ENST00000396294,;MIPOL1,missense_variant,p.Leu156Val,ENST00000545536,;MIPOL1,missense_variant,p.Leu156Val,ENST00000539062,;MIPOL1,non_coding_transcript_exon_variant,,ENST00000553349,;MIPOL1,non_coding_transcript_exon_variant,,ENST00000554930,;MIPOL1,intron_variant,,ENST00000555870,;	1025	82	79	SUCCESS
LRFN5	145581	.	GRCh37	14	42360572	42360572	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768146003	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	64	0	ENST00000298119.4:c.1505T>C	p.Val502Ala	p.V502A	ENST00000298119	NM_152447.3	502	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS9678.1	1505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGTCGTGG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	.	.	ENSP00000298119	.	4/6	.	.	.	.	.	.	.	.	rs768146003	4/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.08)	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Val502Ala,ENST00000298119,;LRFN5,intron_variant,,ENST00000554120,;LRFN5,intron_variant,,ENST00000554171,;	2694	64	52	SUCCESS
RP11-973N13.4	0	.	GRCh37	14	64991444	64991444	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	64	206	0	ENST00000554918.1:n.149-6188T>C		p.*50*	ENST00000554918				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45126.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAAATTG	NONE	.	.	.	.	.	ENSP00000378201	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394712	Transcript	.	.	ENSG00000126804	20259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBTB1_HUMAN	ZBTB1	HGNC	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN	.	UPI00001FD6B2	SNV	ZBTB1,3_prime_UTR_variant,,ENST00000394712,;ZBTB1,intron_variant,,ENST00000358738,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000554015,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;	3613	206	131	SUCCESS
RIN3	79890	.	GRCh37	14	93118183	93118183	+	synonymous_variant	Silent	SNP	G	G	A	rs201235572	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	55	0	ENST00000216487.7:c.789G>A	p.Pro263=	p.P263=	ENST00000216487	NM_024832.3	263	ccG/ccA	0	.	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS32144.1	789	MUTECT|MUSE	.	TTGCCGCCCAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101	A:0	.	ENSP00000216487	A:0	6/10	.	.	.	.	.	.	.	.	rs201235572,COSM2252019	6/10	PASS	ENST00000216487	Transcript	.	A:0.0002	ENSG00000100599	18751	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,synonymous_variant,p.%3D,ENST00000216487,;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,non_coding_transcript_exon_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	948	55	36	SUCCESS
APBA2	321	.	GRCh37	15	29346055	29346055	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	44	0	ENST00000558259.1:c.-33C>A		p.*11*	ENST00000558259	NM_005503.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10022.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCTCCGG	NONE	.	.	.	.	.	ENSP00000453293	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,5_prime_UTR_variant,,ENST00000558259,;APBA2,5_prime_UTR_variant,,ENST00000561069,;APBA2,5_prime_UTR_variant,,ENST00000559709,;APBA2,5_prime_UTR_variant,,ENST00000558206,;APBA2,5_prime_UTR_variant,,ENST00000560283,;APBA2,5_prime_UTR_variant,,ENST00000558402,;APBA2,5_prime_UTR_variant,,ENST00000558330,;APBA2,5_prime_UTR_variant,,ENST00000558358,;APBA2,5_prime_UTR_variant,,ENST00000558804,;APBA2,5_prime_UTR_variant,,ENST00000411764,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	567	44	55	SUCCESS
VPS39	23339	.	GRCh37	15	42458377	42458377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	115	0	ENST00000348544.4:c.1693T>A	p.Phe565Ile	p.F565I	ENST00000348544		565	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS10083.1	1660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGAAGTCTC	NONE	.	.	hmmpanther:PTHR12894:SF10,hmmpanther:PTHR12894	.	.	ENSP00000326534	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000318006	Transcript	.	.	ENSG00000166887	20593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.38)	.	VPS39_HUMAN	VPS39	HGNC	.	.	UPI0000169BB1	SNV	VPS39,missense_variant,p.Phe565Ile,ENST00000348544,;VPS39,missense_variant,p.Phe554Ile,ENST00000318006,;VPS39,non_coding_transcript_exon_variant,,ENST00000563692,;VPS39,non_coding_transcript_exon_variant,,ENST00000562258,;VPS39,downstream_gene_variant,,ENST00000568029,;VPS39,upstream_gene_variant,,ENST00000564994,;VPS39,upstream_gene_variant,,ENST00000561797,;VPS39,upstream_gene_variant,,ENST00000561818,;VPS39,upstream_gene_variant,,ENST00000562662,;VPS39,upstream_gene_variant,,ENST00000568755,;	1823	115	78	SUCCESS
HCN4	10021	.	GRCh37	15	73615463	73615463	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	95	0	ENST00000261917.3:c.2971C>A	p.Leu991Met	p.L991M	ENST00000261917	NM_005477.2	991	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS10248.1	2971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAGTGGGC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375	.	.	ENSP00000261917	.	8/8	.	.	.	.	.	.	.	.	COSM398017	8/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.12)	1	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,missense_variant,p.Leu991Met,ENST00000261917,;	3965	95	53	SUCCESS
IL16	3603	.	GRCh37	15	81598392	81598392	+	synonymous_variant	Silent	SNP	C	C	G	rs145310121	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	27	0	ENST00000302987.4:c.3564C>G	p.Pro1188=	p.P1188=	ENST00000302987		1188	ccC/ccG	0	T:0.0005	T:0.0008	.	T:0	.	G	P	protein_coding	YES	CCDS42069.1	3564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCAGGCA	BUFFER|p.R1140*|c.3418C>T|3	byCluster|by1000G	.	PROSITE_profiles:PS50106,hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	T:0	T:0	ENSP00000302935	T:0	16/18	.	.	.	.	.	.	.	.	rs145310121	16/18	PASS	ENST00000302987	Transcript	.	T:0.0002	ENSG00000172349	5980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,synonymous_variant,p.%3D,ENST00000558332,;IL16,synonymous_variant,p.%3D,ENST00000394660,;IL16,synonymous_variant,p.%3D,ENST00000559388,;IL16,synonymous_variant,p.%3D,ENST00000302987,;IL16,synonymous_variant,p.%3D,ENST00000394652,;STARD5,downstream_gene_variant,,ENST00000302824,;RP11-761I4.4,intron_variant,,ENST00000607019,;IL16,non_coding_transcript_exon_variant,,ENST00000559342,;STARD5,downstream_gene_variant,,ENST00000560916,;IL16,3_prime_UTR_variant,,ENST00000558857,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,non_coding_transcript_exon_variant,,ENST00000559953,;	3564	27	48	SUCCESS
IGF1R	3480	.	GRCh37	15	99465501	99465501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	87	0	ENST00000268035.6:c.2326C>A	p.Pro776Thr	p.P776T	ENST00000268035	NM_000875.3	776	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS10378.1	2326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACCCTTTC	NONE	.	.	SMART_domains:SM00060,PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000268035	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	.	tolerated(0.16)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Pro776Thr,ENST00000558762,;IGF1R,missense_variant,p.Pro776Thr,ENST00000268035,;IGF1R,upstream_gene_variant,,ENST00000560972,;IGF1R,non_coding_transcript_exon_variant,,ENST00000561049,;IGF1R,upstream_gene_variant,,ENST00000560343,;IGF1R,downstream_gene_variant,,ENST00000560144,;	2937	87	79	SUCCESS
ZNF768	79724	.	GRCh37	16	30536540	30536540	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	61	0	ENST00000380412.5:c.921C>A	p.His307Gln	p.H307Q	ENST00000380412	NM_024671.3	307	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS10681.2	921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGTGTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF208,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000369777	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380412	Transcript	.	.	ENSG00000169957	26273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious_low_confidence(0)	.	ZN768_HUMAN	ZNF768	HGNC	H3BS42_HUMAN	.	UPI00001FFEED	SNV	ZNF768,missense_variant,p.His276Gln,ENST00000562803,;ZNF768,missense_variant,p.His307Gln,ENST00000380412,;ZNF747,downstream_gene_variant,,ENST00000535210,;ITGAL,downstream_gene_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000358164,;ITGAL,downstream_gene_variant,,ENST00000356798,;ZNF747,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	1097	61	59	SUCCESS
IGHV3OR16-9	28307	.	GRCh37	16	32077671	32077671	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749643473	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	20	114	0	ENST00000354689.6:c.286T>C	p.Cys96Arg	p.C96R	ENST00000354689		96	Tgt/Cgt	0	.	.	.	.	.	C	C/R	IG_V_gene	YES	.	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACTGTGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF80,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000474363	.	1/1	.	.	.	.	.	.	.	.	rs749643473	1/1	PASS	ENST00000354689	Transcript	.	.	ENSG00000270472	5644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious_low_confidence(0)	.	.	IGHV3OR16-9	HGNC	.	.	UPI000011640D	SNV	IGHV3OR16-9,missense_variant,p.Cys96Arg,ENST00000354689,;RP11-1166P10.6,intron_variant,,ENST00000566806,;	286	114	86	SUCCESS
PDIA2	64714	.	GRCh37	16	335428	335428	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	31	0	ENST00000219406.6:c.912C>A	p.Phe304Leu	p.F304L	ENST00000219406	NM_006849.2	304	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS42089.1	912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTCCGGGG	NONE	.	.	hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF75,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,Pfam_domain:PF13848,Superfamily_domains:SSF52833	.	.	ENSP00000219406	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000219406	Transcript	.	.	ENSG00000185615	14180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0.03)	.	PDIA2_HUMAN	PDIA2	HGNC	B3KWF3_HUMAN	.	UPI0000131481	SNV	PDIA2,missense_variant,p.Phe301Leu,ENST00000404312,;PDIA2,missense_variant,p.Phe304Leu,ENST00000219406,;AXIN1,downstream_gene_variant,,ENST00000457798,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;ARHGDIG,downstream_gene_variant,,ENST00000219409,;ARHGDIG,downstream_gene_variant,,ENST00000447871,;AXIN1,downstream_gene_variant,,ENST00000262320,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,upstream_gene_variant,,ENST00000435833,;PDIA2,downstream_gene_variant,,ENST00000456379,;AXIN1,downstream_gene_variant,,ENST00000354866,;PDIA2,non_coding_transcript_exon_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000482665,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;AXIN1,downstream_gene_variant,,ENST00000461023,;	930	31	40	SUCCESS
LCAT	3931	.	GRCh37	16	67977971	67977971	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	133	0	ENST00000264005.5:c.34A>C	p.Thr12Pro	p.T12P	ENST00000264005	NM_000229.1	12	Acg/Ccg	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS10854.1	34	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGTCACCC	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18	.	.	ENSP00000264005	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000264005	Transcript	.	.	ENSG00000213398	6522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.02)	.	LCAT_HUMAN	LCAT	HGNC	J3QSE5_HUMAN	.	UPI0000000DE7	SNV	LCAT,missense_variant,p.Thr12Pro,ENST00000264005,;SLC12A4,3_prime_UTR_variant,,ENST00000422611,;SLC12A4,downstream_gene_variant,,ENST00000537830,;SLC12A4,downstream_gene_variant,,ENST00000541864,;LCAT,upstream_gene_variant,,ENST00000576450,;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000316341,;SLC12A4,downstream_gene_variant,,ENST00000338335,;LCAT,upstream_gene_variant,,ENST00000570980,;LCAT,upstream_gene_variant,,ENST00000570396,;LCAT,upstream_gene_variant,,ENST00000570369,;CTC-479C5.17,non_coding_transcript_exon_variant,,ENST00000590594,;LCAT,missense_variant,p.Thr12Pro,ENST00000575467,;SLC12A4,downstream_gene_variant,,ENST00000573023,;SLC12A4,downstream_gene_variant,,ENST00000575857,;LCAT,upstream_gene_variant,,ENST00000575277,;SLC12A4,downstream_gene_variant,,ENST00000570616,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000576513,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000570802,;	64	133	97	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43531021	43531021	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	41	119	0	ENST00000430334.3:c.2197G>T	p.Asp733Tyr	p.D733Y	ENST00000430334	NM_014798.2	733	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS32671.1	2197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTCCCGGA	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000389913	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000430334	Transcript	.	.	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Asp644Tyr,ENST00000421073,;PLEKHM1,missense_variant,p.Asp733Tyr,ENST00000430334,;AC091132.1,intron_variant,,ENST00000433601,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000580205,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,3_prime_UTR_variant,,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000582035,;	2331	119	94	SUCCESS
NOTUM	147111	.	GRCh37	17	79914895	79914895	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	38	0	ENST00000409678.3:c.751A>T	p.Lys251Ter	p.K251*	ENST00000409678	NM_178493.5	251	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS32771.2	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTCTCCA	NONE	.	.	hmmpanther:PTHR21562:SF7,hmmpanther:PTHR21562,Pfam_domain:PF03283	.	.	ENSP00000387310	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000409678	Transcript	.	.	ENSG00000185269	27106	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTUM_HUMAN	NOTUM	HGNC	K7EIG3_HUMAN,C9JYG8_HUMAN	.	UPI000004EE80	SNV	NOTUM,stop_gained,p.Lys251Ter,ENST00000425009,;NOTUM,stop_gained,p.Lys251Ter,ENST00000409678,;NOTUM,stop_gained,p.Lys109Ter,ENST00000477214,;NOTUM,downstream_gene_variant,,ENST00000489218,;	1135	38	35	SUCCESS
HMHA1	0	.	GRCh37	19	1084297	1084297	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769720722	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	128	0	ENST00000313093.2:c.3016G>A	p.Glu1006Lys	p.E1006K	ENST00000313093	NM_012292.3	1006	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS58637.1	3064	MUTECT|MUSE|VARSCANS	.	CGGGCGAGGCG	NONE	byFrequency	.	hmmpanther:PTHR15228:SF18,hmmpanther:PTHR15228	.	.	ENSP00000439601	.	22/23	.	.	.	.	.	.	.	.	rs769720722	22/23	PASS	ENST00000539243	Transcript	.	.	ENSG00000180448	17102	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.27)	.	HMHA1_HUMAN	HMHA1	HGNC	O78181_HUMAN	.	UPI0001AE63E1	SNV	HMHA1,missense_variant,p.Glu1006Lys,ENST00000313093,;HMHA1,missense_variant,p.Glu1033Lys,ENST00000590214,;HMHA1,missense_variant,p.Glu1022Lys,ENST00000539243,;HMHA1,missense_variant,p.Glu889Lys,ENST00000543365,;HMHA1,missense_variant,p.Glu874Lys,ENST00000536472,;HMHA1,missense_variant,p.Glu641Lys,ENST00000590577,;HMHA1,missense_variant,p.Glu1010Lys,ENST00000586866,;POLR2E,downstream_gene_variant,,ENST00000586746,;POLR2E,downstream_gene_variant,,ENST00000215587,;HMHA1,non_coding_transcript_exon_variant,,ENST00000591169,;POLR2E,downstream_gene_variant,,ENST00000585838,;POLR2E,downstream_gene_variant,,ENST00000590060,;HMHA1,downstream_gene_variant,,ENST00000590512,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,non_coding_transcript_exon_variant,,ENST00000592297,;HMHA1,non_coding_transcript_exon_variant,,ENST00000586378,;POLR2E,downstream_gene_variant,,ENST00000589737,;POLR2E,downstream_gene_variant,,ENST00000586215,;HMHA1,downstream_gene_variant,,ENST00000586937,;POLR2E,downstream_gene_variant,,ENST00000586817,;POLR2E,downstream_gene_variant,,ENST00000591767,;HMHA1,downstream_gene_variant,,ENST00000591293,;	3167	128	99	SUCCESS
CACNA1A	773	.	GRCh37	19	13318818	13318818	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	574	18	711	0	ENST00000360228.5:c.6830G>C	p.Ser2277Thr	p.S2277T	ENST00000360228	NM_001127222.1	2277	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS45998.1	6830	MUTECT|MUSE	.	GAGTGCTGGTA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000353362	.	47/47	.	.	.	.	.	.	.	.	.	47/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.294)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Ser2277Thr,ENST00000360228,;CACNA1A,missense_variant,p.Ser951Thr,ENST00000585802,;CACNA1A,missense_variant,p.Ser752Thr,ENST00000587525,;CACNA1A,3_prime_UTR_variant,,ENST00000573710,;	6830	711	592	SUCCESS
KCTD15	79047	.	GRCh37	19	34291425	34291425	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs142074601	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	55	145	0	ENST00000430256.3:c.66G>T		p.X22_splice	ENST00000430256		22	gcG/gcT	0	A:0	.	.	.	.	T	A	protein_coding	YES	CCDS46039.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCGGTGAG	NONE	byCluster	.	hmmpanther:PTHR14499:SF27,hmmpanther:PTHR14499	.	A:0.0003	ENSP00000394390	.	2/6	.	.	.	.	.	.	.	.	rs142074601	2/6	PASS	ENST00000430256	Transcript	.	.	ENSG00000153885	23297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCD15_HUMAN	KCTD15	HGNC	K7EQS3_HUMAN,K7EPF0_HUMAN,K7EN63_HUMAN,K7EM48_HUMAN,K7EIF1_HUMAN	.	UPI000004D340	SNV	KCTD15,synonymous_variant,p.%3D,ENST00000588881,;KCTD15,synonymous_variant,p.%3D,ENST00000284006,;KCTD15,synonymous_variant,p.%3D,ENST00000587559,;KCTD15,synonymous_variant,p.%3D,ENST00000587658,;KCTD15,synonymous_variant,p.%3D,ENST00000588637,;KCTD15,synonymous_variant,p.%3D,ENST00000589786,;KCTD15,synonymous_variant,p.%3D,ENST00000590771,;KCTD15,synonymous_variant,p.%3D,ENST00000430256,;KCTD15,synonymous_variant,p.%3D,ENST00000590906,;KCTD15,splice_region_variant,,ENST00000592210,;	474	145	129	SUCCESS
UBA2	10054	.	GRCh37	19	34925843	34925843	+	synonymous_variant	Silent	SNP	G	G	A	rs770373263	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	122	387	0	ENST00000246548.4:c.429G>A	p.Gly143=	p.G143=	ENST00000246548	NM_005499.2	143	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12439.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGTATCT	NONE	byFrequency	.	hmmpanther:PTHR10953,Gene3D:3.40.50.720,Pfam_domain:PF00899,Superfamily_domains:SSF69572	.	.	ENSP00000246548	.	5/17	.	.	.	.	.	.	.	.	rs770373263	5/17	PASS	ENST00000246548	Transcript	.	.	ENSG00000126261	30661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAE2_HUMAN	UBA2	HGNC	U3KQ93_HUMAN,B3KWB9_HUMAN	.	UPI000004F09F	SNV	UBA2,synonymous_variant,p.%3D,ENST00000439527,;UBA2,synonymous_variant,p.%3D,ENST00000590048,;UBA2,synonymous_variant,p.%3D,ENST00000246548,;UBA2,missense_variant,p.Gly70Asp,ENST00000586313,;UBA2,3_prime_UTR_variant,,ENST00000607361,;UBA2,non_coding_transcript_exon_variant,,ENST00000592672,;UBA2,downstream_gene_variant,,ENST00000592841,;	499	387	320	SUCCESS
ZNF30	90075	.	GRCh37	19	35435358	35435358	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	68	0	ENST00000601142.1:c.1488C>T	p.Ala496=	p.A496=	ENST00000601142		496	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46044.1	1491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCCTCGTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000403441	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000439785	Transcript	.	.	ENSG00000168661	13090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF30_HUMAN	ZNF30	HGNC	.	.	UPI0001596897	SNV	ZNF30,synonymous_variant,p.%3D,ENST00000439785,;ZNF30,synonymous_variant,p.%3D,ENST00000426813,;ZNF30,synonymous_variant,p.%3D,ENST00000303586,;ZNF30,synonymous_variant,p.%3D,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;	1935	68	68	SUCCESS
ZNF114	163071	.	GRCh37	19	48789079	48789079	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	131	0	ENST00000315849.1:c.198A>G	p.Arg66=	p.R66=	ENST00000315849	NM_153608.1	66	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS12713.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAACATT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF6,hmmpanther:PTHR24384	.	.	ENSP00000469998	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000595607	Transcript	.	.	ENSG00000178150	12894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN114_HUMAN	ZNF114	HGNC	Q8N4J1_HUMAN	.	UPI000007282E	SNV	ZNF114,synonymous_variant,p.%3D,ENST00000600687,;ZNF114,synonymous_variant,p.%3D,ENST00000594024,;ZNF114,synonymous_variant,p.%3D,ENST00000315849,;ZNF114,synonymous_variant,p.%3D,ENST00000595408,;ZNF114,synonymous_variant,p.%3D,ENST00000595607,;ZNF114,synonymous_variant,p.%3D,ENST00000597695,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;	692	131	84	SUCCESS
PNKP	11284	.	GRCh37	19	50366972	50366984	+	frameshift_variant	Frame_Shift_Del	DEL	CCGTCACCGGCTT	CCGTCACCGGCTT	-	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	CCGTCACCGGCTT	CCGTCACCGGCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	50	0	ENST00000322344.3:c.778_790del	p.Lys260AlafsTer98	p.K260Afs*98	ENST00000322344	NM_007254.3	260	AAGCCGGTGACGGgc/gc	0	.	.	.	.	.	-	KPVTG/X	protein_coding	YES	CCDS12783.1	778-790	INDELOCATOR*|PINDEL	.	ACATGCCCGTCACCGGCTTCCGGT	NONE	.	.	hmmpanther:PTHR12083:SF9,hmmpanther:PTHR12083,TIGRFAM_domain:TIGR01663,TIGRFAM_domain:TIGR01662,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01664,Pfam_domain:PF08645,Superfamily_domains:SSF56784	.	.	ENSP00000323511	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000322344	Transcript	1	.	ENSG00000039650	9154	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNKP_HUMAN	PNKP	HGNC	M0R000_HUMAN,M0QYI1_HUMAN	.	UPI00000705EA	deletion	PNKP,frameshift_variant,p.Lys260AlafsTer98,ENST00000322344,;PNKP,frameshift_variant,p.Lys260AlafsTer98,ENST00000600910,;PNKP,frameshift_variant,p.Lys260AlafsTer98,ENST00000596014,;PNKP,frameshift_variant,p.Lys260AlafsTer49,ENST00000600573,;PTOV1,downstream_gene_variant,,ENST00000597730,;PTOV1,downstream_gene_variant,,ENST00000601675,;PNKP,upstream_gene_variant,,ENST00000597965,;PTOV1,downstream_gene_variant,,ENST00000601638,;PNKP,downstream_gene_variant,,ENST00000596726,;PTOV1,downstream_gene_variant,,ENST00000599732,;PTOV1,downstream_gene_variant,,ENST00000601093,;PTOV1,downstream_gene_variant,,ENST00000221557,;PTOV1,downstream_gene_variant,,ENST00000600603,;PNKP,downstream_gene_variant,,ENST00000599543,;PTOV1,downstream_gene_variant,,ENST00000391842,;AC018766.5,upstream_gene_variant,,ENST00000601893,;AC018766.5,upstream_gene_variant,,ENST00000593654,;AC018766.5,upstream_gene_variant,,ENST00000599259,;AC018766.4,upstream_gene_variant,,ENST00000596624,;PTOV1,downstream_gene_variant,,ENST00000598325,;PNKP,downstream_gene_variant,,ENST00000595792,;PNKP,3_prime_UTR_variant,,ENST00000593946,;PNKP,non_coding_transcript_exon_variant,,ENST00000593706,;PNKP,non_coding_transcript_exon_variant,,ENST00000594661,;PTOV1,downstream_gene_variant,,ENST00000597793,;PTOV1,downstream_gene_variant,,ENST00000601612,;PNKP,upstream_gene_variant,,ENST00000599454,;PTOV1,downstream_gene_variant,,ENST00000596424,;PNKP,upstream_gene_variant,,ENST00000601816,;PNKP,upstream_gene_variant,,ENST00000595081,;PNKP,downstream_gene_variant,,ENST00000598020,;	888-900	50	36	SUCCESS
PPP6R1	22870	.	GRCh37	19	55751023	55751023	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	59	0	ENST00000412770.2:c.1592G>A	p.Ser531Asn	p.S531N	ENST00000412770	NM_014931.3	531	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS46186.1	1592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCACTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634	.	.	ENSP00000414202	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000412770	Transcript	.	.	ENSG00000105063	29195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	PP6R1_HUMAN	PPP6R1	HGNC	Q96ID3_HUMAN,K7EM28_HUMAN	.	UPI0000202C6D	SNV	PPP6R1,missense_variant,p.Ser531Asn,ENST00000412770,;PPP6R1,missense_variant,p.Ser531Asn,ENST00000587283,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000589343,;PPP6R1,downstream_gene_variant,,ENST00000591602,;PPP6R1,upstream_gene_variant,,ENST00000586690,;PPP6R1,downstream_gene_variant,,ENST00000591323,;	2159	59	58	SUCCESS
C3	718	.	GRCh37	19	6690690	6690690	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	68	0	ENST00000245907.6:c.3439G>T	p.Val1147Phe	p.V1147F	ENST00000245907	NM_000064.2	1147	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS32883.1	3439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACAAAGG	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	.	.	ENSP00000245907	.	27/41	.	.	.	.	.	.	.	.	.	27/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Val12Phe,ENST00000601008,;C3,missense_variant,p.Val1147Phe,ENST00000245907,;C3,non_coding_transcript_exon_variant,,ENST00000598805,;C3,upstream_gene_variant,,ENST00000596238,;	3532	68	44	SUCCESS
ZNF560	147741	.	GRCh37	19	9583900	9583900	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	47	0	ENST00000301480.4:c.193T>C	p.Leu65=	p.L65=	ENST00000301480	NM_152476.2	65	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS12214.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAACCAAG	NONE	.	.	PROSITE_profiles:PS50805,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000301480	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000301480	Transcript	.	.	ENSG00000198028	26484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN560_HUMAN	ZNF560	HGNC	.	.	UPI000013E720	SNV	ZNF560,synonymous_variant,p.%3D,ENST00000301480,;ZNF560,upstream_gene_variant,,ENST00000585974,;	407	47	26	SUCCESS
TNFRSF4	7293	.	GRCh37	1	1147185	1147185	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1050588149	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	43	0	ENST00000379236.3:c.662T>C	p.Leu221Pro	p.L221P	ENST00000379236	NM_003327.3	221	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11.1	662	MUTECT|MUSE	.	GGCCCAGGCCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF12	.	.	ENSP00000368538	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000379236	Transcript	.	.	ENSG00000186827	11918	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TNR4_HUMAN	TNFRSF4	HGNC	.	.	UPI00001370E5	SNV	TNFRSF4,missense_variant,p.Leu221Pro,ENST00000379236,;TNFRSF4,downstream_gene_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;	667	43	41	SUCCESS
C1orf167	284498	.	GRCh37	1	11848092	11848092	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	40	121	0	ENST00000433342.1:c.3908A>T	p.Lys1303Ile	p.K1303I	ENST00000433342		1303	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	.	3908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATAAACGGA	NONE	.	.	.	.	.	ENSP00000414909	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000433342	Transcript	.	.	ENSG00000215910	25262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	tolerated(0.1)	.	CA167_HUMAN	C1orf167	HGNC	.	.	UPI00015C73CD	SNV	C1orf167,missense_variant,p.Lys389Ile,ENST00000449278,;C1orf167,missense_variant,p.Lys663Ile,ENST00000312793,;C1orf167,missense_variant,p.Lys1303Ile,ENST00000433342,;C1orf167,missense_variant,p.Lys446Ile,ENST00000444493,;MTHFR,3_prime_UTR_variant,,ENST00000376590,;MTHFR,3_prime_UTR_variant,,ENST00000376583,;MTHFR,3_prime_UTR_variant,,ENST00000376592,;MTHFR,downstream_gene_variant,,ENST00000376585,;C1orf167,non_coding_transcript_exon_variant,,ENST00000482358,;C1orf167,downstream_gene_variant,,ENST00000475041,;	3908	121	95	SUCCESS
TMEM88B	643965	.	GRCh37	1	1361567	1361567	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	123	0	ENST00000378821.3:c.60A>T	p.Thr20=	p.T20=	ENST00000378821	NM_001146685.1	20	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS57964.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACAGCGCC	NONE	.	.	.	.	.	ENSP00000455099	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000378821	Transcript	.	.	ENSG00000205116	37099	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM88B_HUMAN	TMEM88B	HGNC	.	.	UPI0000D61E0D	SNV	TMEM88B,synonymous_variant,p.%3D,ENST00000378821,;ANKRD65,upstream_gene_variant,,ENST00000537107,;ANKRD65,upstream_gene_variant,,ENST00000427211,;ANKRD65,upstream_gene_variant,,ENST00000442470,;ANKRD65,upstream_gene_variant,,ENST00000520296,;RP4-758J18.10,downstream_gene_variant,,ENST00000430109,;RP4-758J18.10,downstream_gene_variant,,ENST00000417917,;RP4-758J18.10,downstream_gene_variant,,ENST00000434150,;RP4-758J18.10,downstream_gene_variant,,ENST00000454562,;RP4-758J18.7,downstream_gene_variant,,ENST00000428932,;	60	123	75	SUCCESS
S100A8	6279	.	GRCh37	1	153362952	153362952	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	25	116	0	ENST00000368732.1:c.60C>G	p.Ser20=	p.S20=	ENST00000368732		20	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1038.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGGAGTA	NONE	.	.	hmmpanther:PTHR11639:SF5,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Pfam_domain:PF01023,Superfamily_domains:SSF47473	.	.	ENSP00000357722	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000368733	Transcript	.	.	ENSG00000143546	10498	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S10A8_HUMAN	S100A8	HGNC	.	.	UPI000002C6C3	SNV	S100A8,synonymous_variant,p.%3D,ENST00000368733,;S100A8,synonymous_variant,p.%3D,ENST00000368732,;S100A8,non_coding_transcript_exon_variant,,ENST00000477801,;	230	116	158	SUCCESS
HCN3	57657	.	GRCh37	1	155247573	155247573	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	192	232	0	ENST00000368358.3:c.192G>T	p.Val64=	p.V64=	ENST00000368358	NM_020897.2	64	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1108.1	192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTGTTCGG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF374,Pfam_domain:PF08412	.	.	ENSP00000357342	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000368358	Transcript	.	.	ENSG00000143630	19183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCN3_HUMAN	HCN3	HGNC	.	.	UPI00000559A6	SNV	HCN3,synonymous_variant,p.%3D,ENST00000368358,;CLK2,upstream_gene_variant,,ENST00000361168,;CLK2,upstream_gene_variant,,ENST00000536801,;CLK2,upstream_gene_variant,,ENST00000355560,;CLK2,upstream_gene_variant,,ENST00000368361,;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;CLK2,intron_variant,,ENST00000471047,;CLK2,upstream_gene_variant,,ENST00000476983,;HCN3,upstream_gene_variant,,ENST00000467204,;	200	232	298	SUCCESS
KIRREL	0	.	GRCh37	1	158054346	158054346	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	8	150	0	ENST00000359209.6:c.487C>G	p.Gln163Glu	p.Q163E	ENST00000359209		163	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS1172.2	487	MUTECT|MUSE	.	CGCAGCAGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF08205,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.495)	.	tolerated(0.08)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Gln163Glu,ENST00000368173,;KIRREL,missense_variant,p.Gln63Glu,ENST00000416935,;KIRREL,missense_variant,p.Gln163Glu,ENST00000359209,;KIRREL,intron_variant,,ENST00000360089,;KIRREL,intron_variant,,ENST00000392272,;KIRREL,upstream_gene_variant,,ENST00000368172,;	554	150	174	SUCCESS
CD247	919	.	GRCh37	1	167404461	167404461	+	intron_variant	Intron	SNP	C	C	T	rs1193617214	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	9	0	ENST00000362089.5:c.336+175G>A		p.*112*	ENST00000362089				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1261.1	.	MUTECT|MUSE	.	TCCTCCGGAGC	NONE	.	.	.	.	.	ENSP00000354782	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362089	Transcript	.	.	ENSG00000198821	1677	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD3Z_HUMAN	CD247	HGNC	H6QVQ5_HUMAN,A9Y844_HUMAN	.	UPI0000127362	SNV	CD247,intron_variant,,ENST00000362089,;CD247,intron_variant,,ENST00000392122,;CD247,non_coding_transcript_exon_variant,,ENST00000483825,;CD247,intron_variant,,ENST00000470379,;CD247,intron_variant,,ENST00000476733,;CD247,downstream_gene_variant,,ENST00000479979,;CD247,upstream_gene_variant,,ENST00000485089,;	.	9	21	SUCCESS
HMCN1	83872	.	GRCh37	1	186056407	186056407	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs765297402	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	51	178	0	ENST00000271588.4:c.9105T>G	p.Cys3035Trp	p.C3035W	ENST00000271588	NM_031935.2	3035	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS30956.1	9105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTATAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	59/107	.	.	.	.	.	.	.	.	rs765297402	59/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Cys3035Trp,ENST00000367492,;HMCN1,missense_variant,p.Cys3035Trp,ENST00000271588,;	9334	178	234	SUCCESS
BRINP3	339479	.	GRCh37	1	190068054	190068054	+	synonymous_variant	Silent	SNP	G	G	T	rs370368224	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	29	98	0	ENST00000367462.3:c.1395C>A	p.Thr465=	p.T465=	ENST00000367462	NM_199051.1	465	acC/acA	0	A:0	.	.	.	.	T	T	protein_coding	YES	CCDS1373.1	1395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGGTGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Superfamily_domains:SSF57184	.	A:0.0001	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	rs370368224,COSM531493	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,synonymous_variant,p.%3D,ENST00000534846,;BRINP3,synonymous_variant,p.%3D,ENST00000367462,;	1627	98	136	SUCCESS
SYT14	255928	.	GRCh37	1	210332796	210332796	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	54	167	0	ENST00000472886.1:c.1355-1278T>A		p.*452*	ENST00000472886		507		0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS53469.1	1520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATAGGTG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF209,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000389039	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000422431	Transcript	.	.	ENSG00000143469	23143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	SYT14_HUMAN	SYT14	HGNC	A1L3Y1_HUMAN	.	UPI0001639EBD	SNV	SYT14,missense_variant,p.Ile469Lys,ENST00000534859,;SYT14,missense_variant,p.Ile507Lys,ENST00000422431,;SYT14,missense_variant,p.Ile462Lys,ENST00000367019,;SYT14,3_prime_UTR_variant,,ENST00000399639,;SYT14,intron_variant,,ENST00000472886,;SYT14,intron_variant,,ENST00000367015,;SYT14,intron_variant,,ENST00000537238,;SYT14,non_coding_transcript_exon_variant,,ENST00000469604,;SYT14,intron_variant,,ENST00000271745,;	1578	167	216	SUCCESS
PROX1	5629	.	GRCh37	1	214170224	214170224	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	47	99	1	ENST00000261454.4:c.346C>T	p.Leu116Phe	p.L116F	ENST00000261454		116	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31021.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTCTCTCT	NONE	.	.	hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198	.	.	ENSP00000355925	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000366958	Transcript	.	.	ENSG00000117707	9459	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	PROX1_HUMAN	PROX1	HGNC	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN	.	UPI0000071D14	SNV	PROX1,missense_variant,p.Leu116Phe,ENST00000498508,;PROX1,missense_variant,p.Leu116Phe,ENST00000366958,;PROX1,missense_variant,p.Leu116Phe,ENST00000607425,;PROX1,missense_variant,p.Leu116Phe,ENST00000471129,;PROX1,missense_variant,p.Leu116Phe,ENST00000261454,;PROX1,missense_variant,p.Leu116Phe,ENST00000435016,;	954	100	201	SUCCESS
OBSCN	84033	.	GRCh37	1	228496077	228496077	+	synonymous_variant	Silent	SNP	C	C	A	rs751349282	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	55	0	ENST00000422127.1:c.12732C>A	p.Thr4244=	p.T4244=	ENST00000422127	NM_001098623.2	4244	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS59204.1	15603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCGTCAG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	58/116	.	.	.	.	.	.	.	.	rs751349282	58/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000359599,;OBSCN,downstream_gene_variant,,ENST00000602832,;	15677	55	68	SUCCESS
CSF3R	1441	.	GRCh37	1	36937988	36937988	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	52	0	ENST00000361632.4:c.848G>A	p.Gly283Asp	p.G283D	ENST00000361632		283	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS414.1	848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCCACC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR23036:SF75,hmmpanther:PTHR23036,PROSITE_profiles:PS50853	.	.	ENSP00000362195	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000373103	Transcript	.	.	ENSG00000119535	2439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.62)	.	CSF3R_HUMAN	CSF3R	HGNC	E9PK56_HUMAN	.	UPI000002AA5A	SNV	CSF3R,missense_variant,p.Gly283Asp,ENST00000373106,;CSF3R,missense_variant,p.Gly283Asp,ENST00000331941,;CSF3R,missense_variant,p.Gly283Asp,ENST00000361632,;CSF3R,missense_variant,p.Gly283Asp,ENST00000373104,;CSF3R,missense_variant,p.Gly283Asp,ENST00000418048,;CSF3R,missense_variant,p.Gly283Asp,ENST00000338937,;CSF3R,missense_variant,p.Gly283Asp,ENST00000373103,;CSF3R,missense_variant,p.Gly283Asp,ENST00000440588,;CSF3R,upstream_gene_variant,,ENST00000464465,;CSF3R,non_coding_transcript_exon_variant,,ENST00000487540,;CSF3R,downstream_gene_variant,,ENST00000526980,;CSF3R,non_coding_transcript_exon_variant,,ENST00000464365,;CSF3R,non_coding_transcript_exon_variant,,ENST00000480825,;CSF3R,upstream_gene_variant,,ENST00000466138,;CSF3R,upstream_gene_variant,,ENST00000484762,;CSF3R,downstream_gene_variant,,ENST00000469380,;	1396	52	44	SUCCESS
SMAP2	64744	.	GRCh37	1	40882719	40882719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	109	0	ENST00000372718.3:c.1115C>T	p.Thr372Ile	p.T372I	ENST00000372718	NM_022733.2	372	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS451.1	1115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACTGTGT	NONE	.	.	hmmpanther:PTHR23180:SF29,hmmpanther:PTHR23180	.	.	ENSP00000361803	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000372718	Transcript	.	.	ENSG00000084070	25082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.14)	.	SMAP2_HUMAN	SMAP2	HGNC	B7Z2F9_HUMAN	.	UPI000006DD04	SNV	SMAP2,missense_variant,p.Thr372Ile,ENST00000372718,;SMAP2,missense_variant,p.Thr342Ile,ENST00000372708,;SMAP2,missense_variant,p.Thr292Ile,ENST00000539317,;SMAP2,downstream_gene_variant,,ENST00000435168,;SMAP2,downstream_gene_variant,,ENST00000487871,;	1539	110	86	SUCCESS
PTCH2	8643	.	GRCh37	1	45288095	45288095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	47	0	ENST00000372192.3:c.3604A>G	p.Thr1202Ala	p.T1202A	ENST00000372192	NM_003738.4	1202	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS516.1	3604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGTGGCTG	NONE	.	.	.	.	.	ENSP00000361266	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000372192	Transcript	.	.	ENSG00000117425	9586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious_low_confidence(0.01)	.	PTC2_HUMAN	PTCH2	HGNC	.	.	UPI00001328B8	SNV	PTCH2,missense_variant,p.Thr1202Ala,ENST00000372192,;PTCH2,intron_variant,,ENST00000447098,;PTCH2,intron_variant,,ENST00000438067,;RNU5E-6P,upstream_gene_variant,,ENST00000365574,;	3735	47	30	SUCCESS
WDR63	0	.	GRCh37	1	85598554	85598555	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	72	0	ENST00000294664.6:c.2553dup	p.Glu852ArgfsTer6	p.E852Rfs*6	ENST00000294664	NM_145172.3	850	tca/tcAa	0	.	.	.	.	.	A	S/SX	protein_coding	YES	CCDS702.1	2549-2550	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGTCAAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000294664	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000294664	Transcript	.	.	ENSG00000162643	30711	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR63_HUMAN	WDR63	HGNC	.	.	UPI00000744F1	insertion	WDR63,frameshift_variant,p.Glu813ArgfsTer6,ENST00000326813,;WDR63,frameshift_variant,p.Glu813ArgfsTer6,ENST00000370596,;WDR63,frameshift_variant,p.Glu852ArgfsTer6,ENST00000294664,;WDR63,downstream_gene_variant,,ENST00000484007,;MIR4423,upstream_gene_variant,,ENST00000580922,;WDR63,3_prime_UTR_variant,,ENST00000464801,;	2729-2730	72	66	SUCCESS
ZNF335	63925	.	GRCh37	20	44590731	44590731	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140842666	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	24	0	ENST00000322927.2:c.1624G>T	p.Ala542Ser	p.A542S	ENST00000322927	NM_022095.3	542	Gcc/Tcc	0	T:0.0002	T:0.0008	.	T:0	.	A	A/S	protein_coding	YES	CCDS13389.1	1624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCGTGCC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403,PROSITE_profiles:PS50157	T:0	T:0.0001	ENSP00000325326	T:0	10/28	.	.	.	.	.	.	.	.	rs140842666	10/28	PASS	ENST00000322927	Transcript	1	T:0.0002	ENSG00000198026	15807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	T:0	tolerated(1)	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,missense_variant,p.Ala542Ser,ENST00000322927,;ZNF335,missense_variant,p.Ala387Ser,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000475002,;ZNF335,downstream_gene_variant,,ENST00000476822,;ZNF335,downstream_gene_variant,,ENST00000494955,;	1725	24	31	SUCCESS
C22orf39	128977	.	GRCh37	22	19435059	19435059	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1476042524	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	12	0	ENST00000399562.4:c.145C>T	p.Pro49Ser	p.P49S	ENST00000399562	NM_173793.4	49	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33599.2	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGGCGCG	NONE	.	.	.	.	.	ENSP00000382474	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000399562	Transcript	.	.	ENSG00000242259	27012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.228)	.	tolerated(0.09)	.	CV039_HUMAN	C22orf39	HGNC	.	.	UPI0000D4CFB9	SNV	C22orf39,missense_variant,p.Pro49Ser,ENST00000542103,;C22orf39,missense_variant,p.Pro12Ser,ENST00000399568,;C22orf39,missense_variant,p.Pro12Ser,ENST00000333059,;C22orf39,missense_variant,p.Pro49Ser,ENST00000399562,;HIRA,5_prime_UTR_variant,,ENST00000546308,;HIRA,intron_variant,,ENST00000541063,;UFD1L,downstream_gene_variant,,ENST00000263202,;UFD1L,downstream_gene_variant,,ENST00000360834,;UFD1L,downstream_gene_variant,,ENST00000399523,;AC000068.5,upstream_gene_variant,,ENST00000431090,;C22orf39,missense_variant,p.Pro12Ser,ENST00000509549,;HIRA,upstream_gene_variant,,ENST00000452818,;UFD1L,downstream_gene_variant,,ENST00000466373,;UFD1L,downstream_gene_variant,,ENST00000459854,;	578	12	33	SUCCESS
ARVCF	421	.	GRCh37	22	19960689	19960693	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCG	GAGCG	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	GAGCG	GAGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	47	0	ENST00000263207.3:c.2387_2391delinsA	p.Ser796TyrfsTer67	p.S796Yfs*67	ENST00000263207	NM_001670.2	796	tCGCTC/tA	0	.	.	.	.	.	T	SL/X	protein_coding	YES	CCDS13771.1	2387-2391	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|RADIA*|VARSCANS*	.	CTGCAGGAGCGAGCGC	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF5,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000263207	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000263207	Transcript	.	.	ENSG00000099889	728	.	.	HIGH	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	ARVC_HUMAN	ARVCF	HGNC	.	.	UPI00001260C8	substitution	ARVCF,frameshift_variant,p.Ser796TyrfsTer67,ENST00000263207,;ARVCF,frameshift_variant,p.Ser727TyrfsTer67,ENST00000406522,;ARVCF,frameshift_variant,p.Ser733TyrfsTer67,ENST00000344269,;ARVCF,frameshift_variant,p.Ser790TyrfsTer67,ENST00000406259,;ARVCF,frameshift_variant,p.Ser733TyrfsTer67,ENST00000401994,;COMT,downstream_gene_variant,,ENST00000407537,;COMT,downstream_gene_variant,,ENST00000361682,;COMT,downstream_gene_variant,,ENST00000449653,;COMT,downstream_gene_variant,,ENST00000412786,;COMT,downstream_gene_variant,,ENST00000406520,;COMT,downstream_gene_variant,,ENST00000403710,;ARVCF,non_coding_transcript_exon_variant,,ENST00000480792,;ARVCF,non_coding_transcript_exon_variant,,ENST00000495096,;COMT,downstream_gene_variant,,ENST00000207636,;	2679-2683	47	49	SUCCESS
RGPD4	285190	.	GRCh37	2	108487445	108487445	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	81	252	0	ENST00000408999.3:c.2985A>T	p.Gly995=	p.G995=	ENST00000408999	NM_182588.2	995	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46381.1	2985	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGATTTTC	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	3062	252	260	SUCCESS
FSIP2	401024	.	GRCh37	2	186671383	186671383	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774274371	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	97	240	0	ENST00000424728.1:c.17350G>A	p.Ala5784Thr	p.A5784T	ENST00000424728		5784	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54426.1	17617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGCTAAG	NONE	byFrequency	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	rs774274371	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Ala5873Thr,ENST00000343098,;FSIP2,missense_variant,p.Ala5784Thr,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	17617	240	233	SUCCESS
RNF25	64320	.	GRCh37	2	219536701	219536701	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	44	124	0	ENST00000295704.2:c.-8G>T		p.*3*	ENST00000295704	NM_022453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2420.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACCGGCC	NONE	.	.	.	.	.	ENSP00000295704	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000295704	Transcript	.	.	ENSG00000163481	14662	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF25_HUMAN	RNF25	HGNC	.	.	UPI000013431F	SNV	RNF25,5_prime_UTR_variant,,ENST00000295704,;STK36,upstream_gene_variant,,ENST00000392105,;STK36,upstream_gene_variant,,ENST00000424080,;STK36,upstream_gene_variant,,ENST00000440309,;STK36,upstream_gene_variant,,ENST00000295709,;STK36,upstream_gene_variant,,ENST00000455724,;STK36,upstream_gene_variant,,ENST00000392106,;RNF25,non_coding_transcript_exon_variant,,ENST00000463188,;STK36,upstream_gene_variant,,ENST00000473557,;RNF25,upstream_gene_variant,,ENST00000473034,;RNF25,upstream_gene_variant,,ENST00000423170,;RNF25,upstream_gene_variant,,ENST00000497832,;STK36,upstream_gene_variant,,ENST00000468026,;	434	124	110	SUCCESS
SPEG	10290	.	GRCh37	2	220344828	220344828	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	39	0	ENST00000312358.7:c.5308A>C	p.Asn1770His	p.N1770H	ENST00000312358	NM_005876.4	1770	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS42824.1	5308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCAATCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000311684	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Asn1770His,ENST00000312358,;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	5440	39	28	SUCCESS
DPYSL5	56896	.	GRCh37	2	27121441	27121441	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	65	170	0	ENST00000288699.6:c.74A>G	p.Glu25Gly	p.E25G	ENST00000288699	NM_001253724.1	25	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1730.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGAGGCTG	NONE	.	.	hmmpanther:PTHR11647:SF58,hmmpanther:PTHR11647,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51338	.	.	ENSP00000288699	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000288699	Transcript	.	.	ENSG00000157851	20637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	tolerated(0.3)	.	DPYL5_HUMAN	DPYSL5	HGNC	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN	.	UPI00000411CF	SNV	DPYSL5,missense_variant,p.Glu25Gly,ENST00000450961,;DPYSL5,missense_variant,p.Glu25Gly,ENST00000434719,;DPYSL5,missense_variant,p.Glu25Gly,ENST00000288699,;DPYSL5,missense_variant,p.Glu25Gly,ENST00000431402,;DPYSL5,missense_variant,p.Glu25Gly,ENST00000401478,;	232	170	158	SUCCESS
SLC30A3	7781	.	GRCh37	2	27481124	27481124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	110	0	ENST00000233535.4:c.329T>A	p.Leu110Gln	p.L110Q	ENST00000233535	NM_003459.4	110	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1743.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCAGCAAG	NONE	.	.	hmmpanther:PTHR11562:SF36,hmmpanther:PTHR11562,Pfam_domain:PF01545,Gene3D:3h90A01,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606	.	.	ENSP00000233535	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000233535	Transcript	.	.	ENSG00000115194	11014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZNT3_HUMAN	SLC30A3	HGNC	C9JM13_HUMAN,C9JHZ9_HUMAN,C9J1K4_HUMAN	.	UPI000006D0B4	SNV	SLC30A3,missense_variant,p.Leu61Gln,ENST00000432351,;SLC30A3,missense_variant,p.Leu88Gln,ENST00000424577,;SLC30A3,missense_variant,p.Leu105Gln,ENST00000447008,;SLC30A3,missense_variant,p.Leu110Gln,ENST00000233535,;SLC30A3,missense_variant,p.Leu61Gln,ENST00000426569,;SLC30A3,missense_variant,p.Leu61Gln,ENST00000450118,;SLC30A3,missense_variant,p.Leu97Gln,ENST00000426924,;SLC30A3,missense_variant,p.Leu99Gln,ENST00000445870,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000497341,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000486309,;SLC30A3,upstream_gene_variant,,ENST00000482990,;	682	110	74	SUCCESS
FOSL2	2355	.	GRCh37	2	28615842	28615842	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	27	0	ENST00000264716.4:c.-746G>T		p.*249*	ENST00000264716	NM_005253.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1766.1	.	MUTECT|MUSE	.	GAGGCGCGGCC	NONE	.	.	.	.	.	ENSP00000264716	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000264716	Transcript	.	.	ENSG00000075426	3798	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOSL2_HUMAN	FOSL2	HGNC	C9JCN8_HUMAN	.	UPI000004F8AB	SNV	FOSL2,5_prime_UTR_variant,,ENST00000264716,;FOSL2,intron_variant,,ENST00000379619,;FOSL2,upstream_gene_variant,,ENST00000436647,;FOSL2,upstream_gene_variant,,ENST00000545753,;AC104695.3,intron_variant,,ENST00000445878,;AC104695.3,intron_variant,,ENST00000427929,;RP11-373D23.2,upstream_gene_variant,,ENST00000604052,;FOSL2,intron_variant,,ENST00000460736,;	118	27	16	SUCCESS
FOSL2	2355	.	GRCh37	2	28615843	28615843	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	27	0	ENST00000264716.4:c.-745C>A		p.*249*	ENST00000264716	NM_005253.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1766.1	.	MUTECT|MUSE	.	AGGCGCGGCCG	NONE	.	.	.	.	.	ENSP00000264716	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000264716	Transcript	.	.	ENSG00000075426	3798	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOSL2_HUMAN	FOSL2	HGNC	C9JCN8_HUMAN	.	UPI000004F8AB	SNV	FOSL2,5_prime_UTR_variant,,ENST00000264716,;FOSL2,intron_variant,,ENST00000379619,;FOSL2,upstream_gene_variant,,ENST00000436647,;FOSL2,upstream_gene_variant,,ENST00000545753,;AC104695.3,intron_variant,,ENST00000445878,;AC104695.3,intron_variant,,ENST00000427929,;RP11-373D23.2,upstream_gene_variant,,ENST00000604052,;FOSL2,intron_variant,,ENST00000460736,;	119	27	16	SUCCESS
IGKV1D-33	28896	.	GRCh37	2	89953168	89953168	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	47	0	ENST00000390265.2:c.164T>A	p.Leu55Ter	p.L55*	ENST00000390265		55	tTa/tAa	0	.	.	.	.	.	A	L/*	IG_V_gene	YES	.	164	RADIA|SOMATICSNIPER|VARSCANS	.	CTATTTAAATT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF109,PROSITE_profiles:PS50835	.	.	ENSP00000374800	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390265	Transcript	.	.	ENSG00000239975	5753	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGKV1D-33	HGNC	.	.	UPI0000113B51	SNV	IGKV1D-33,stop_gained,p.Leu55Ter,ENST00000390265,;	253	47	43	SUCCESS
TRIM43	129868	.	GRCh37	2	96259967	96259967	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs555638309	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	150	0	ENST00000272395.2:c.196A>G	p.Thr66Ala	p.T66A	ENST00000272395	NM_138800.1	66	Acc/Gcc	0	.	G:0	.	G:0.0014	.	G	T/A	protein_coding	YES	CCDS2015.1	196	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TCAAAACCAAT	NONE	by1000G	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	G:0	.	ENSP00000272395	G:0	2/7	.	.	.	.	.	.	.	.	rs555638309	2/7	PASS	ENST00000272395	Transcript	.	G:0.0002	ENSG00000144015	19015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.299)	G:0	deleterious(0.01)	.	TRI43_HUMAN	TRIM43	HGNC	.	.	UPI000006E7BB	SNV	TRIM43,missense_variant,p.Thr66Ala,ENST00000272395,;AC009237.13,upstream_gene_variant,,ENST00000441078,;	332	150	109	SUCCESS
ATR	545	.	GRCh37	3	142188335	142188335	+	synonymous_variant	Silent	SNP	A	A	G	rs774455552	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	70	191	0	ENST00000350721.4:c.6396T>C	p.Tyr2132=	p.Y2132=	ENST00000350721	NM_001184.3	2132	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS3124.1	6396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAAATAGTT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	38/47	.	.	.	.	.	.	.	.	rs774455552	38/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,synonymous_variant,p.%3D,ENST00000383101,;ATR,synonymous_variant,p.%3D,ENST00000350721,;ATR,upstream_gene_variant,,ENST00000513291,;RP11-383G6.3,intron_variant,,ENST00000460977,;	6518	191	181	SUCCESS
SPATA16	83893	.	GRCh37	3	172834939	172834939	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762017484	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	86	0	ENST00000351008.3:c.583G>T	p.Ala195Ser	p.A195S	ENST00000351008	NM_031955.5	195	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3221.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCAAGG	BUFFER|p.Y192Y|c.576C>T|3	.	.	hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000341765	.	2/11	.	.	.	.	.	.	.	.	rs762017484	2/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	deleterious(0)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Ala195Ser,ENST00000351008,;	767	86	67	SUCCESS
SPATA16	83893	.	GRCh37	3	172834940	172834940	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	87	0	ENST00000351008.3:c.582G>T	p.Leu194Phe	p.L194F	ENST00000351008	NM_031955.5	194	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3221.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCAAGGC	BUFFER|p.Y192Y|c.576C>T|3	.	.	hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000341765	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.05)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Leu194Phe,ENST00000351008,;	766	87	68	SUCCESS
TMEM207	131920	.	GRCh37	3	190167637	190167637	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	48	0	ENST00000354905.2:c.-39G>T		p.*13*	ENST00000354905	NM_207316.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3297.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCTGTGT	NONE	.	.	.	.	.	ENSP00000346981	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000354905	Transcript	.	.	ENSG00000198398	33705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM207_HUMAN	TMEM207	HGNC	.	.	UPI0000048F12	SNV	TMEM207,5_prime_UTR_variant,,ENST00000354905,;	29	48	37	SUCCESS
SCN5A	6331	.	GRCh37	3	38651286	38651286	+	synonymous_variant	Silent	SNP	G	G	A	rs376515775	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	107	0	ENST00000333535.4:c.873C>T	p.Asn291=	p.N291=	ENST00000333535		291	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS46799.1	873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGTTGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF00520	.	A:0.0001	ENSP00000410257	.	7/28	.	.	.	.	.	.	.	.	rs376515775	7/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,synonymous_variant,p.%3D,ENST00000449557,;SCN5A,synonymous_variant,p.%3D,ENST00000413689,;SCN5A,synonymous_variant,p.%3D,ENST00000423572,;SCN5A,synonymous_variant,p.%3D,ENST00000425664,;SCN5A,synonymous_variant,p.%3D,ENST00000414099,;SCN5A,synonymous_variant,p.%3D,ENST00000451551,;SCN5A,synonymous_variant,p.%3D,ENST00000450102,;SCN5A,synonymous_variant,p.%3D,ENST00000333535,;SCN5A,synonymous_variant,p.%3D,ENST00000455624,;SCN5A,synonymous_variant,p.%3D,ENST00000443581,;SCN5A,downstream_gene_variant,,ENST00000491944,;	1067	107	76	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266107	41266107	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	31	100	0	ENST00000349496.5:c.104T>G	p.Ile35Ser	p.I35S	ENST00000349496	NM_001904.3	35	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS2694.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAATCCATT	SITE|p.I35S|c.104T>G|36,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.I35T|c.104T>C|14,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5674,COSM13168,COSM5695	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.852)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ile35Ser,ENST00000349496,;CTNNB1,missense_variant,p.Ile28Ser,ENST00000426215,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000450969,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000431914,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000396185,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000405570,;CTNNB1,missense_variant,p.Ile28Ser,ENST00000453024,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000396183,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	384	100	91	SUCCESS
TAPT1	202018	.	GRCh37	4	16177756	16177756	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	47	0	ENST00000405303.2:c.1093G>T	p.Asp365Tyr	p.D365Y	ENST00000405303	NM_153365.2	365	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47030.1	1093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCATTGA	NONE	.	.	hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4,Pfam_domain:PF05346	.	.	ENSP00000385347	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000405303	Transcript	.	.	ENSG00000169762	26887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	TAPT1_HUMAN	TAPT1	HGNC	B4DJJ3_HUMAN	.	UPI0000253B29	SNV	TAPT1,missense_variant,p.Asp146Tyr,ENST00000304584,;TAPT1,missense_variant,p.Asp365Tyr,ENST00000405303,;TAPT1,missense_variant,p.Asp254Tyr,ENST00000399920,;RP11-452J21.2,upstream_gene_variant,,ENST00000513586,;TAPT1,downstream_gene_variant,,ENST00000488714,;TAPT1,missense_variant,p.Asp158Tyr,ENST00000513782,;TAPT1,3_prime_UTR_variant,,ENST00000505603,;TAPT1,downstream_gene_variant,,ENST00000504281,;TAPT1,downstream_gene_variant,,ENST00000507425,;TAPT1,upstream_gene_variant,,ENST00000507728,;TAPT1,upstream_gene_variant,,ENST00000508886,;	1177	48	38	SUCCESS
SEL1L3	23231	.	GRCh37	4	25836840	25836840	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750129330	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	59	0	ENST00000399878.3:c.839G>A	p.Arg280His	p.R280H	ENST00000399878	NM_015187.3	280	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS47037.1	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGCGTCGA	NONE	.	.	hmmpanther:PTHR11102:SF58,hmmpanther:PTHR11102	.	.	ENSP00000382767	.	3/24	.	.	.	.	.	.	.	.	rs750129330	3/24	PASS	ENST00000399878	Transcript	.	.	ENSG00000091490	29108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	SE1L3_HUMAN	SEL1L3	HGNC	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN	.	UPI00001D7736	SNV	SEL1L3,missense_variant,p.Arg280His,ENST00000399878,;SEL1L3,missense_variant,p.Arg127His,ENST00000502949,;SEL1L3,missense_variant,p.Arg245His,ENST00000264868,;SEL1L3,non_coding_transcript_exon_variant,,ENST00000513364,;	962	59	56	SUCCESS
GABRA2	2555	.	GRCh37	4	46390951	46390951	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs201113156	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	30	0	ENST00000356504.1:c.-228A>G		p.*76*	ENST00000356504	NM_001114175.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3471.1	.	SOMATICSNIPER|VARSCANS	.	TCTTTTTTTCT	NONE	byCluster	.	.	.	.	ENSP00000421828	.	.	.	.	.	.	.	.	.	.	rs201113156	.	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	SNV	GABRA2,5_prime_UTR_variant,,ENST00000356504,;GABRA2,intron_variant,,ENST00000503806,;GABRA2,intron_variant,,ENST00000510861,;GABRA2,intron_variant,,ENST00000515082,;GABRA2,intron_variant,,ENST00000507460,;GABRA2,intron_variant,,ENST00000506961,;GABRA2,intron_variant,,ENST00000381620,;GABRA2,intron_variant,,ENST00000540012,;GABRA2,intron_variant,,ENST00000514090,;GABRA2,upstream_gene_variant,,ENST00000507069,;RP11-436F23.1,upstream_gene_variant,,ENST00000502455,;GABRA2,upstream_gene_variant,,ENST00000509716,;GABRA2,intron_variant,,ENST00000514193,;GABRA2,upstream_gene_variant,,ENST00000513005,;GABRA2,upstream_gene_variant,,ENST00000510233,;	.	30	39	SUCCESS
KIT	3815	.	GRCh37	4	55564702	55564702	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	55	0	ENST00000288135.5:c.590C>T	p.Ser197Leu	p.S197L	ENST00000288135	NM_000222.2	197	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3496.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCGGAAA	NONE	.	.	Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951	.	.	ENSP00000288135	.	3/21	.	.	.	.	.	.	.	.	COSM1319328	3/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Ser197Leu,ENST00000412167,;KIT,missense_variant,p.Ser197Leu,ENST00000288135,;KIT,downstream_gene_variant,,ENST00000514582,;	687	55	40	SUCCESS
IGFBP7-AS1	255130	.	GRCh37	4	57975953	57975953	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	9	0	ENST00000499667.2:n.26G>C		p.*9*	ENST00000499667				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3512.1	.	MUTECT|MUSE	.	GCAGCGCGGGG	NONE	.	.	.	.	.	ENSP00000295666	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295666	Transcript	1	.	ENSG00000163453	5476	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IBP7_HUMAN	IGFBP7	HGNC	.	.	UPI00000422D2	SNV	IGFBP7,intron_variant,,ENST00000537922,;IGFBP7,intron_variant,,ENST00000295666,;snoU13,upstream_gene_variant,,ENST00000459071,;IGFBP7-AS1,non_coding_transcript_exon_variant,,ENST00000499667,;IGFBP7-AS1,upstream_gene_variant,,ENST00000508328,;	.	9	18	SUCCESS
WDFY3	23001	.	GRCh37	4	85719181	85719181	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	83	0	ENST00000295888.4:c.2903C>T	p.Pro968Leu	p.P968L	ENST00000295888	NM_014991.4	968	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3609.1	2903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGGTTTG	NONE	.	.	hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	18/68	.	.	.	.	.	.	.	.	.	18/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	deleterious(0)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Pro968Leu,ENST00000295888,;WDFY3,missense_variant,p.Pro968Leu,ENST00000322366,;WDFY3,downstream_gene_variant,,ENST00000512267,;WDFY3,downstream_gene_variant,,ENST00000505923,;	3311	83	58	SUCCESS
AQPEP	0	.	GRCh37	5	115318983	115318983	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	126	412	0	ENST00000357872.4:c.696-1G>T		p.X232_splice	ENST00000357872	NM_173800.4	232		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4124.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGGGCCC	NONE	.	.	.	.	.	ENSP00000350541	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	HIGH	1/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,splice_acceptor_variant,,ENST00000357872,;AQPEP,splice_acceptor_variant,,ENST00000395528,;AQPEP,splice_acceptor_variant,,ENST00000504467,;	.	412	341	SUCCESS
FBN2	2201	.	GRCh37	5	127714560	127714560	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	71	0	ENST00000262464.4:c.1627C>T	p.Pro543Ser	p.P543S	ENST00000262464	NM_001999.3	543	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34222.1	1627	MUTECT|MUSE	.	GCAGGGATTTG	NONE	.	.	Prints_domain:PR00010,Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	18/71	.	.	.	.	.	.	.	.	COSM398272,COSM398273	18/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.994)	.	deleterious(0.01)	1,1	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Pro543Ser,ENST00000262464,;FBN2,missense_variant,p.Pro543Ser,ENST00000508053,;FBN2,missense_variant,p.Pro510Ser,ENST00000508989,;FBN2,upstream_gene_variant,,ENST00000511489,;	2602	71	51	SUCCESS
SLIT3	6586	.	GRCh37	5	168189636	168189636	+	synonymous_variant	Silent	SNP	G	G	A	rs776500729	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	75	0	ENST00000519560.1:c.1518C>T	p.Pro506=	p.P506=	ENST00000519560	NM_003062.3	506	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4369.1	1518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCGGGGCA	NONE	byFrequency	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF01462,SMART_domains:SM00013	.	.	ENSP00000430333	.	15/36	.	.	.	.	.	.	.	.	rs776500729	15/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	1938	75	54	SUCCESS
NKX2-5	1482	.	GRCh37	5	172662220	172662220	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	36	0	ENST00000329198.4:c.-134G>A		p.*45*	ENST00000329198	NM_004387.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4387.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCAGGTA	NONE	.	.	.	.	.	ENSP00000327758	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000329198	Transcript	1	.	ENSG00000183072	2488	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NKX25_HUMAN	NKX2-5	HGNC	A1ECB8_HUMAN	.	UPI0000062197	SNV	NKX2-5,5_prime_UTR_variant,,ENST00000329198,;NKX2-5,5_prime_UTR_variant,,ENST00000424406,;NKX2-5,5_prime_UTR_variant,,ENST00000517440,;NKX2-5,upstream_gene_variant,,ENST00000521848,;	141	36	62	SUCCESS
SLC45A2	51151	.	GRCh37	5	33951511	33951511	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	18	0	ENST00000296589.4:c.1156+148A>G		p.*386*	ENST00000296589	NM_016180.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3901.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTTTTTAA	NONE	.	.	.	.	.	ENSP00000296589	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296589	Transcript	1	.	ENSG00000164175	16472	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S45A2_HUMAN	SLC45A2	HGNC	.	.	UPI00001AEC19	SNV	SLC45A2,3_prime_UTR_variant,,ENST00000509381,;SLC45A2,intron_variant,,ENST00000342059,;SLC45A2,intron_variant,,ENST00000382102,;SLC45A2,intron_variant,,ENST00000296589,;SLC45A2,intron_variant,,ENST00000510600,;SLC45A2,downstream_gene_variant,,ENST00000345083,;	.	18	27	SUCCESS
LIFR	3977	.	GRCh37	5	38523608	38523608	+	synonymous_variant	Silent	SNP	G	G	A	rs150467945	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	400	157	519	2	ENST00000263409.4:c.474C>T	p.Asn158=	p.N158=	ENST00000263409	NM_002310.5	158	aaC/aaT	0	A:0	A:0	.	A:0	.	A	N	protein_coding	YES	CCDS3927.1	474	RADIA|SOMATICSNIPER|VARSCANS	.	CTGTCGTTCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91	A:0	A:0.0001	ENSP00000263409	A:0.001	5/20	.	.	.	.	.	.	.	.	rs150467945	5/20	PASS	ENST00000263409	Transcript	1	A:0.0002	ENSG00000113594	6597	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	LIFR_HUMAN	LIFR	HGNC	D6RJ94_HUMAN,D6RF33_HUMAN	.	UPI000004CAC2	SNV	LIFR,synonymous_variant,p.%3D,ENST00000263409,;LIFR,synonymous_variant,p.%3D,ENST00000453190,;LIFR,downstream_gene_variant,,ENST00000506990,;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;	637	521	557	SUCCESS
HDAC2	3066	.	GRCh37	6	114277278	114277278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	35	86	0	ENST00000519065.1:c.396G>T	p.Met132Ile	p.M132I	ENST00000519065		132	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS43493.2	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCATATC	NONE	.	.	hmmpanther:PTHR10625:SF60,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271	.	.	ENSP00000430432	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000519065	Transcript	.	.	ENSG00000196591	4853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	HDAC2_HUMAN	HDAC2	HGNC	E5RK19_HUMAN,E5RJ04_HUMAN,E5RHE7_HUMAN,E5RH52_HUMAN,E5RGV4_HUMAN,E5RG37_HUMAN,E5RFI6_HUMAN,B3KRS5_HUMAN	.	UPI000020E11B	SNV	HDAC2,missense_variant,p.Met226Ile,ENST00000398283,;HDAC2,missense_variant,p.Met102Ile,ENST00000519108,;HDAC2,missense_variant,p.Met102Ile,ENST00000368632,;HDAC2,missense_variant,p.Met132Ile,ENST00000519065,;HDAC2,missense_variant,p.Met102Ile,ENST00000523628,;HDAC2,missense_variant,p.Met122Ile,ENST00000425835,;HDAC2,downstream_gene_variant,,ENST00000518690,;HDAC2,downstream_gene_variant,,ENST00000523240,;HDAC2,downstream_gene_variant,,ENST00000520895,;HDAC2,downstream_gene_variant,,ENST00000521610,;HDAC2,downstream_gene_variant,,ENST00000522371,;HDAC2,downstream_gene_variant,,ENST00000521163,;HDAC2,downstream_gene_variant,,ENST00000524334,;HDAC2,non_coding_transcript_exon_variant,,ENST00000523334,;HDAC2,non_coding_transcript_exon_variant,,ENST00000518756,;HDAC2,downstream_gene_variant,,ENST00000520170,;HDAC2,downstream_gene_variant,,ENST00000521233,;	773	86	53	SUCCESS
MTRF1L	54516	.	GRCh37	6	153316354	153316354	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	70	184	0	ENST00000367233.5:c.440C>T	p.Ser147Leu	p.S147L	ENST00000367233	NM_019041.5	147	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS5243.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGATGTA	NONE	.	.	Superfamily_domains:SSF75620,SMART_domains:SM00937,Pfam_domain:PF03462,hmmpanther:PTHR11075:SF42,hmmpanther:PTHR11075	.	.	ENSP00000356202	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000367233	Transcript	.	.	ENSG00000112031	21051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.16)	.	RF1ML_HUMAN	MTRF1L	HGNC	.	.	UPI0000071978	SNV	MTRF1L,missense_variant,p.Ser147Leu,ENST00000367233,;MTRF1L,missense_variant,p.Ser147Leu,ENST00000367231,;MTRF1L,intron_variant,,ENST00000367230,;MTRF1L,intron_variant,,ENST00000414771,;MTRF1L,upstream_gene_variant,,ENST00000448966,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000464135,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000485512,;MTRF1L,intron_variant,,ENST00000463251,;MTRF1L,intron_variant,,ENST00000485283,;MTRF1L,upstream_gene_variant,,ENST00000461949,;MTRF1L,downstream_gene_variant,,ENST00000482526,;	440	184	185	SUCCESS
THBS2	7058	.	GRCh37	6	169620434	169620434	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	105	0	ENST00000366787.3:c.3372-2A>C		p.X1124_splice	ENST00000366787	NM_003247.2	1124		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34574.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCTAAAAA	NONE	.	.	.	.	.	ENSP00000355751	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	HIGH	21/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,splice_acceptor_variant,,ENST00000366787,;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,splice_acceptor_variant,,ENST00000488355,;	.	105	79	SUCCESS
THBS2	7058	.	GRCh37	6	169646339	169646339	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	79	0	ENST00000366787.3:c.647C>A	p.Ser216Tyr	p.S216Y	ENST00000366787	NM_003247.2	216	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34574.1	647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGAGTTT	NONE	.	.	hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000355751	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0.03)	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,missense_variant,p.Ser216Tyr,ENST00000366787,;THBS2,downstream_gene_variant,,ENST00000435791,;THBS2,non_coding_transcript_exon_variant,,ENST00000472733,;	897	79	63	SUCCESS
CRIP3	401262	.	GRCh37	6	43274226	43274226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	75	0	ENST00000274990.4:c.358G>A	p.Glu120Lys	p.E120K	ENST00000274990		120	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4894.2	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCCCCAG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.04)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Glu120Lys,ENST00000274990,;CRIP3,missense_variant,p.Glu120Lys,ENST00000372569,;CRIP3,intron_variant,,ENST00000416431,;CRIP3,upstream_gene_variant,,ENST00000451294,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	363	75	49	SUCCESS
GPR110	0	.	GRCh37	6	46976900	46976900	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	54	181	0	ENST00000371253.2:c.2271G>T	p.Val757=	p.V757=	ENST00000371253	NM_153840.2	757	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34471.1	2271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCACAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000360299	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,synonymous_variant,p.%3D,ENST00000283297,;GPR110,synonymous_variant,p.%3D,ENST00000371253,;GPR110,non_coding_transcript_exon_variant,,ENST00000449332,;GPR110,non_coding_transcript_exon_variant,,ENST00000419892,;GPR110,downstream_gene_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000475745,;	2487	181	155	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47251829	47251829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	86	0	ENST00000296861.2:c.1088T>A	p.Val363Glu	p.V363E	ENST00000296861	NM_014452.4	363	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS4921.1	1088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCACAAGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097	.	.	ENSP00000296861	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,missense_variant,p.Val363Glu,ENST00000296861,;	1482	86	77	SUCCESS
HCRTR2	3062	.	GRCh37	6	55147195	55147195	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	63	0	ENST00000370862.3:c.1278C>A	p.Leu426=	p.L426=	ENST00000370862	NM_001526.3	426	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4956.1	1278	MUTECT|MUSE|VARSCANS	.	GTGCTCACTAG	NONE	.	.	hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Pfam_domain:PF03827,Prints_domain:PR01064	.	.	ENSP00000359899	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370862	Transcript	.	.	ENSG00000137252	4849	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OX2R_HUMAN	HCRTR2	HGNC	S4X0W3_HUMAN,A6N9G8_HUMAN	.	UPI000013D07A	SNV	HCRTR2,synonymous_variant,p.%3D,ENST00000370862,;	1614	63	56	SUCCESS
CUX1	1523	.	GRCh37	7	101844891	101844891	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	55	0	ENST00000292535.7:c.2314G>C	p.Glu772Gln	p.E772Q	ENST00000292535	NM_181552.3	772	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS56498.1	2347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGAGGCC	NONE	.	.	hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043	.	.	ENSP00000353401	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000360264	Transcript	.	.	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.21)	.	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,missense_variant,p.Glu670Gln,ENST00000546411,;CUX1,missense_variant,p.Glu614Gln,ENST00000556210,;CUX1,missense_variant,p.Glu750Gln,ENST00000549414,;CUX1,missense_variant,p.Glu783Gln,ENST00000360264,;CUX1,missense_variant,p.Glu772Gln,ENST00000292535,;CUX1,missense_variant,p.Glu716Gln,ENST00000550008,;CUX1,intron_variant,,ENST00000437600,;CUX1,intron_variant,,ENST00000547394,;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000425244,;CUX1,intron_variant,,ENST00000393824,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	2367	55	51	SUCCESS
PODXL	5420	.	GRCh37	7	131241049	131241050	+	inframe_insertion	In_Frame_Ins	INS	-	-	CGACGC	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	74	0	ENST00000378555.3:c.69_70insGCGTCG	p.Ser23_Pro24insAlaSer	p.S23_P24insAS	ENST00000378555		23	-/GCGTCG	0	.	.	.	.	.	CGACGC	-/AS	protein_coding	YES	CCDS34755.1	69-70	INDELOCATOR|VARSCANI	.	CGACGGCGACG	NONE	.	.	PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067,Low_complexity_(Seg):seg	.	.	ENSP00000367817	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000378555	Transcript	.	.	ENSG00000128567	9171	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PODXL_HUMAN	PODXL	HGNC	.	.	UPI000042467C	insertion	PODXL,inframe_insertion,p.Ser23_Pro24insAlaSer,ENST00000378555,;PODXL,inframe_insertion,p.Ser23_Pro24insAlaSer,ENST00000541194,;PODXL,inframe_insertion,p.Ser23_Pro24insAlaSer,ENST00000537928,;PODXL,inframe_insertion,p.Ser23_Pro24insAlaSer,ENST00000322985,;PODXL,intron_variant,,ENST00000465001,;PODXL,inframe_insertion,p.Ser23_Pro24insAlaSer,ENST00000446198,;	317-318	74	59	SUCCESS
PLXNA4	91584	.	GRCh37	7	132192829	132192829	+	synonymous_variant	Silent	SNP	A	A	C	rs142932361	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	53	0	ENST00000321063.4:c.624T>G	p.Ser208=	p.S208=	ENST00000321063	NM_020911.1	208	tcT/tcG	0	G:0.0002	.	.	.	.	C	S	protein_coding	YES	CCDS43646.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGAGTT	NONE	byCluster	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	G:0	ENSP00000352882	.	2/32	.	.	.	.	.	.	.	.	rs142932361	2/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,synonymous_variant,p.%3D,ENST00000321063,;PLXNA4,synonymous_variant,p.%3D,ENST00000423507,;PLXNA4,synonymous_variant,p.%3D,ENST00000359827,;PLXNA4,synonymous_variant,p.%3D,ENST00000378539,;	1587	53	51	SUCCESS
TRPV5	56302	.	GRCh37	7	142622595	142622595	+	intron_variant	Intron	SNP	C	C	A	rs372166444	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	86	0	ENST00000265310.1:c.1122+29G>T		p.*374*	ENST00000265310	NM_019841.4			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS5875.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTCTCTCT	NONE	byCluster	.	.	.	A:0.0001	ENSP00000265310	.	.	.	.	.	.	.	.	.	.	rs372166444	.	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODIFIER	8/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,3_prime_UTR_variant,,ENST00000442623,;TRPV5,intron_variant,,ENST00000439304,;TRPV5,intron_variant,,ENST00000265310,;	.	86	71	SUCCESS
RECQL4	9401	.	GRCh37	8	145738712	145738712	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	57	0	ENST00000428558.2:c.2352G>A	p.Arg784=	p.R784=	ENST00000428558	NM_004260.3	784	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	.	2352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCCGCAC	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1,TIGRFAM_domain:TIGR00614,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000475456	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,synonymous_variant,p.%3D,ENST00000428558,;RECQL4,intron_variant,,ENST00000534626,;MFSD3,downstream_gene_variant,,ENST00000301327,;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,intron_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;	2394	57	49	SUCCESS
PAG1	55824	.	GRCh37	8	81888943	81888943	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	119	0	ENST00000220597.4:c.1135C>T	p.Pro379Ser	p.P379S	ENST00000220597	NM_018440.3	379	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6227.1	1135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCCTCC	NONE	.	.	Pfam_domain:PF15347,hmmpanther:PTHR16322,hmmpanther:PTHR16322:SF0	.	.	ENSP00000220597	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000220597	Transcript	.	.	ENSG00000076641	30043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.14)	.	PHAG1_HUMAN	PAG1	HGNC	.	.	UPI0000072E56	SNV	PAG1,missense_variant,p.Pro379Ser,ENST00000220597,;PAG1,upstream_gene_variant,,ENST00000523463,;	1846	119	90	SUCCESS
CDH17	1015	.	GRCh37	8	95188826	95188826	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	49	162	0	ENST00000027335.3:c.367C>A	p.Arg123=	p.R123=	ENST00000027335	NM_004063.3	123	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS6260.1	367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGATTGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000027335	.	5/18	.	.	.	.	.	.	.	.	COSM79152	5/18	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,synonymous_variant,p.%3D,ENST00000441892,;CDH17,synonymous_variant,p.%3D,ENST00000450165,;CDH17,synonymous_variant,p.%3D,ENST00000521491,;CDH17,synonymous_variant,p.%3D,ENST00000027335,;	492	162	139	SUCCESS
OR1J1	347168	.	GRCh37	9	125239744	125239744	+	synonymous_variant	Silent	SNP	C	C	A	rs773430361	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	90	0	ENST00000259357.2:c.462G>T	p.Ala154=	p.A154=	ENST00000259357	NM_001004451.1	154	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS35120.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACGCACA	CODON|p.A154V|c.461C>T|3	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF213,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000259357	.	1/1	.	.	.	.	.	.	.	.	rs773430361	1/1	PASS	ENST00000259357	Transcript	.	.	ENSG00000136834	8208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1J1_HUMAN	OR1J1	HGNC	.	.	UPI0000061E79	SNV	OR1J1,synonymous_variant,p.%3D,ENST00000259357,;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	492	90	81	SUCCESS
GPR144	0	.	GRCh37	9	127215460	127215460	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000334810.1:c.484T>C	p.Phe162Leu	p.F162L	ENST00000334810	NM_001161808.1	162	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	.	484	MUTECT|MUSE	.	CGCTCTTCTCC	NONE	.	.	Gene3D:2.60.120.200,Pfam_domain:PF00354,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895	.	.	ENSP00000335156	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000334810	Transcript	.	.	ENSG00000180264	18651	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.896)	.	deleterious(0.02)	.	GP144_HUMAN	GPR144	HGNC	.	.	UPI000019AD1B	SNV	GPR144,missense_variant,p.Phe162Leu,ENST00000334810,;	484	14	11	SUCCESS
C9orf24	84688	.	GRCh37	9	34381529	34381529	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	27	0	ENST00000297623.2:c.397-87C>A		p.*133*	ENST00000297623	NM_032596.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6554.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCGCCACG	NONE	.	.	.	.	.	ENSP00000297623	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297623	Transcript	.	.	ENSG00000164972	19919	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMRP1_HUMAN	C9orf24	HGNC	.	.	UPI000006E5B3	SNV	C9orf24,5_prime_UTR_variant,,ENST00000379126,;C9orf24,5_prime_UTR_variant,,ENST00000379124,;C9orf24,5_prime_UTR_variant,,ENST00000379133,;C9orf24,5_prime_UTR_variant,,ENST00000379127,;C9orf24,intron_variant,,ENST00000297623,;C9orf24,downstream_gene_variant,,ENST00000444429,;KIAA1161,upstream_gene_variant,,ENST00000297625,;C9orf24,upstream_gene_variant,,ENST00000481295,;	.	27	23	SUCCESS
MLANA	2315	.	GRCh37	9	5906982	5906982	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	110	0	ENST00000381471.1:c.272A>C	p.Lys91Thr	p.K91T	ENST00000381471		91	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS6466.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAAAAACT	NONE	.	.	hmmpanther:PTHR15305,hmmpanther:PTHR15305:SF0,Pfam_domain:PF14991	.	.	ENSP00000370886	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000381477	Transcript	.	.	ENSG00000120215	7124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.38)	.	MAR1_HUMAN	MLANA	HGNC	.	.	UPI0000039DCC	SNV	MLANA,missense_variant,p.Lys91Thr,ENST00000381476,;MLANA,missense_variant,p.Lys91Thr,ENST00000381477,;MLANA,missense_variant,p.Lys91Thr,ENST00000381471,;MLANA,non_coding_transcript_exon_variant,,ENST00000482341,;MLANA,non_coding_transcript_exon_variant,,ENST00000490518,;KIAA2026,intron_variant,,ENST00000443149,;KIAA2026,intron_variant,,ENST00000436015,;	432	110	77	SUCCESS
NINJ1	4814	.	GRCh37	9	95896554	95896554	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	32	0	ENST00000375446.4:c.-55G>A		p.*19*	ENST00000375446	NM_004148.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6703.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGCAGG	NONE	.	.	.	.	.	ENSP00000364595	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000375446	Transcript	.	.	ENSG00000131669	7824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NINJ1_HUMAN	NINJ1	HGNC	.	.	UPI000013CE09	SNV	NINJ1,5_prime_UTR_variant,,ENST00000375446,;NINJ1,upstream_gene_variant,,ENST00000470314,;NINJ1,upstream_gene_variant,,ENST00000461162,;NINJ1,upstream_gene_variant,,ENST00000490564,;	17	32	36	SUCCESS
NXF2B	728343	.	GRCh37	X	101624744	101624744	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	994	175	458	0	ENST00000457521.2:c.234-87T>C		p.*78*	ENST00000457521				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43979.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTACAATTAGG	NONE	.	.	.	.	.	ENSP00000396447	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000457521	Transcript	.	.	ENSG00000185945	23984	.	.	MODIFIER	15/33	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NXF2_HUMAN	NXF2B	HGNC	D3DX98_HUMAN	.	UPI0000130AB1	SNV	NXF2B,5_prime_UTR_variant,,ENST00000372752,;NXF2B,intron_variant,,ENST00000372749,;NXF2B,intron_variant,,ENST00000457521,;NXF2B,intron_variant,,ENST00000372750,;NXF2B,intron_variant,,ENST00000412230,;NXF2B,upstream_gene_variant,,ENST00000489531,;TCP11X2,downstream_gene_variant,,ENST00000429905,;	.	458	1170	SUCCESS
STAG2	10735	.	GRCh37	X	123182871	123182871	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	417	184	315	0	ENST00000218089.9:c.836A>G	p.Asp279Gly	p.D279G	ENST00000218089	NM_001042749.1	279	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS43990.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGATGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3,Superfamily_domains:SSF48371	.	.	ENSP00000218089	.	10/35	.	.	.	.	.	.	.	.	COSM1625468,COSM1625467	10/35	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.678)	.	deleterious(0.03)	1,1	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	SNV	STAG2,missense_variant,p.Asp279Gly,ENST00000371160,;STAG2,missense_variant,p.Asp210Gly,ENST00000354548,;STAG2,missense_variant,p.Asp279Gly,ENST00000371157,;STAG2,missense_variant,p.Asp279Gly,ENST00000371144,;STAG2,missense_variant,p.Asp279Gly,ENST00000455404,;STAG2,missense_variant,p.Asp279Gly,ENST00000218089,;STAG2,missense_variant,p.Asp279Gly,ENST00000371145,;STAG2,downstream_gene_variant,,ENST00000435215,;STAG2,downstream_gene_variant,,ENST00000428941,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;STAG2,downstream_gene_variant,,ENST00000458176,;	1346	315	602	SUCCESS
SMARCA1	6594	.	GRCh37	X	128645791	128645791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	389	150	0	ENST00000371122.4:c.800A>G	p.Lys267Arg	p.K267R	ENST00000371122	NM_003069.3	267	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS14612.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTTGTCT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF602,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000360163	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000371122	Transcript	.	.	ENSG00000102038	11097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.06)	.	SMCA1_HUMAN	SMARCA1	HGNC	F6TQG2_HUMAN	.	UPI0000161FA6	SNV	SMARCA1,missense_variant,p.Lys267Arg,ENST00000371122,;SMARCA1,missense_variant,p.Lys267Arg,ENST00000371121,;SMARCA1,missense_variant,p.Lys267Arg,ENST00000371123,;SMARCA1,non_coding_transcript_exon_variant,,ENST00000478420,;	930	150	417	SUCCESS
SAGE1	55511	.	GRCh37	X	134990278	134990278	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	164	94	0	ENST00000324447.3:c.1190A>T	p.Glu397Val	p.E397V	ENST00000324447		397	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS14652.1	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGAAGA	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Glu397Val,ENST00000370709,;SAGE1,missense_variant,p.Glu397Val,ENST00000535938,;SAGE1,missense_variant,p.Glu397Val,ENST00000324447,;SAGE1,intron_variant,,ENST00000537770,;	1357	94	184	SUCCESS
XG	7499	.	GRCh37	X	2712585	2712585	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	58	54	0	ENST00000381174.5:c.263A>G	p.Asn88Ser	p.N88S	ENST00000381174		88	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS48073.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAATGATG	NONE	.	.	hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF4,Pfam_domain:PF12301	.	.	ENSP00000411004	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000419513	Transcript	.	.	ENSG00000124343	12806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated(0.75)	.	XG_HUMAN	XG	HGNC	Q496P1_HUMAN	.	UPI0000D61D1F	SNV	XG,missense_variant,p.Asn89Ser,ENST00000426774,;XG,missense_variant,p.Asn88Ser,ENST00000381174,;XG,missense_variant,p.Asn88Ser,ENST00000419513,;XG,missense_variant,p.Asn66Ser,ENST00000509484,;XG,non_coding_transcript_exon_variant,,ENST00000519244,;	486	54	66	SUCCESS
COL17A1	1308	.	GRCh37	10	105796292	105796292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	61	0	ENST00000353479.5:c.3376G>T	p.Asp1126Tyr	p.D1126Y	ENST00000353479	NM_000494.3	1126	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS7554.1	3376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTCCAAAG	NONE	.	.	hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023	.	.	ENSP00000340937	.	48/56	.	.	.	.	.	.	.	.	.	48/56	PASS	ENST00000353479	Transcript	1	.	ENSG00000065618	2194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	COHA1_HUMAN	COL17A1	HGNC	.	.	UPI000006DB58	SNV	COL17A1,missense_variant,p.Asp1126Tyr,ENST00000353479,;COL17A1,missense_variant,p.Asp1081Tyr,ENST00000369733,;COL17A1,upstream_gene_variant,,ENST00000433822,;	3667	61	50	SUCCESS
C1QL3	389941	.	GRCh37	10	16556558	16556558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	6	88	0	ENST00000298943.3:c.737C>T	p.Thr246Met	p.T246M	ENST00000298943	NM_001010908.1	246	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS31156.1	737	MUTECT|MUSE|VARSCANS	.	AAAACGTGCTG	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF24,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000298943	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298943	Transcript	.	.	ENSG00000165985	19359	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	C1QL3_HUMAN	C1QL3	HGNC	.	.	UPI000013E53F	SNV	C1QL3,missense_variant,p.Thr246Met,ENST00000298943,;PTER,downstream_gene_variant,,ENST00000298942,;PTER,downstream_gene_variant,,ENST00000378000,;PTER,downstream_gene_variant,,ENST00000535784,;PTER,downstream_gene_variant,,ENST00000423462,;	1677	88	80	SUCCESS
GDF10	2662	.	GRCh37	10	48438408	48438408	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	51	0	ENST00000224605.2:c.303C>T	p.Ser101=	p.S101=	ENST00000224605	NM_004962.3	101	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS7220.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGCTGCG	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,Pfam_domain:PF00688,PIRSF_domain:PIRSF037403	.	.	ENSP00000224605	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000224605	Transcript	.	.	ENSG00000107623	4215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP3B_HUMAN	GDF10	HGNC	Q8N6T2_HUMAN	.	UPI0000126A13	SNV	GDF10,synonymous_variant,p.%3D,ENST00000224605,;	569	51	44	SUCCESS
CCDC6	8030	.	GRCh37	10	61666139	61666139	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777134350	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	22	0	ENST00000263102.6:c.44G>T	p.Gly15Val	p.G15V	ENST00000263102	NM_005436.4	15	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7257.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCCCCCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15276:SF0,hmmpanther:PTHR15276,Pfam_domain:PF09755	.	.	ENSP00000263102	.	1/9	.	.	.	.	.	.	.	.	rs777134350	1/9	PASS	ENST00000263102	Transcript	1	.	ENSG00000108091	18782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated_low_confidence(0.17)	.	CCDC6_HUMAN	CCDC6	HGNC	.	.	UPI000035B25A	SNV	CCDC6,missense_variant,p.Gly15Val,ENST00000263102,;	276	22	33	SUCCESS
GOLGA7B	401647	.	GRCh37	10	99623838	99623838	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	73	0	ENST00000370602.1:c.290A>T	p.Lys97Met	p.K97M	ENST00000370602	NM_001010917.2	97	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS31265.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGAAGGTGG	NONE	.	.	hmmpanther:PTHR13254:SF2,hmmpanther:PTHR13254,Pfam_domain:PF10256	.	.	ENSP00000359634	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000370602	Transcript	.	.	ENSG00000155265	31668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	GOG7B_HUMAN	GOLGA7B	HGNC	.	.	UPI0000197C37	SNV	GOLGA7B,missense_variant,p.Lys97Met,ENST00000370602,;CRTAC1,downstream_gene_variant,,ENST00000298819,;CRTAC1,downstream_gene_variant,,ENST00000370597,;GOLGA7B,upstream_gene_variant,,ENST00000596005,;CRTAC1,downstream_gene_variant,,ENST00000413387,;GOLGA7B,upstream_gene_variant,,ENST00000423054,;	355	73	90	SUCCESS
MUC5AC	4586	.	GRCh37	11	1154232	1154232	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	16	0	ENST00000534821.1:c.78T>C	p.His26=	p.H26=	ENST00000534821		26	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	.	78	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCATGCCCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000435591	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000534821	Transcript	.	.	ENSG00000215182	7515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC5AC	HGNC	Q7LDT3_HUMAN,E9PJ98_HUMAN	.	UPI0000456454	SNV	MUC5AC,synonymous_variant,p.%3D,ENST00000356191,;MUC5AC,synonymous_variant,p.%3D,ENST00000534821,;	125	16	21	SUCCESS
VWA5A	4013	.	GRCh37	11	123989361	123989361	+	synonymous_variant	Silent	SNP	C	C	T	rs1365640470	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	72	0	ENST00000392748.1:c.591C>T	p.Ser197=	p.S197=	ENST00000392748	NM_014622.4	197	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8444.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCCAACTG	NONE	.	.	hmmpanther:PTHR10338:SF100,hmmpanther:PTHR10338	.	.	ENSP00000407726	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000456829	Transcript	.	.	ENSG00000110002	6658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VMA5A_HUMAN	VWA5A	HGNC	.	.	UPI0000158B80	SNV	VWA5A,synonymous_variant,p.%3D,ENST00000392744,;VWA5A,synonymous_variant,p.%3D,ENST00000456829,;VWA5A,synonymous_variant,p.%3D,ENST00000449321,;VWA5A,synonymous_variant,p.%3D,ENST00000360334,;VWA5A,synonymous_variant,p.%3D,ENST00000361352,;VWA5A,synonymous_variant,p.%3D,ENST00000392748,;VWA5A,downstream_gene_variant,,ENST00000533623,;	842	72	71	SUCCESS
ATG2A	23130	.	GRCh37	11	64662891	64662891	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773575172	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	41	0	ENST00000377264.3:c.5451C>A	p.Asp1817Glu	p.D1817E	ENST00000377264	NM_015104.2	1817	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS31602.1	5451	MUTECT|MUSE	.	AGGATGTCATA	NONE	.	.	hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF18	.	.	ENSP00000366475	.	40/41	.	.	.	.	.	.	.	.	rs773575172	40/41	PASS	ENST00000377264	Transcript	.	.	ENSG00000110046	29028	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	ATG2A_HUMAN	ATG2A	HGNC	B4DV45_HUMAN	.	UPI00001C1F21	SNV	ATG2A,missense_variant,p.Asp1621Glu,ENST00000418259,;ATG2A,missense_variant,p.Asp1819Glu,ENST00000421419,;ATG2A,missense_variant,p.Asp1817Glu,ENST00000377264,;MIR194-2,upstream_gene_variant,,ENST00000413053,;RP11-665N17.4,upstream_gene_variant,,ENST00000601517,;MIR192,upstream_gene_variant,,ENST00000384915,;MIR194-2,upstream_gene_variant,,ENST00000384864,;ATG2A,downstream_gene_variant,,ENST00000472525,;	5564	41	52	SUCCESS
PRKRIR	0	.	GRCh37	11	76062358	76062362	+	frameshift_variant	Frame_Shift_Del	DEL	CATGA	CATGA	-	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	CATGA	CATGA	.	.	.	.	.	.	.	.	.	.	.	.	.	96	23	121	0	ENST00000260045.3:c.1832_1836del	p.Val611GlyfsTer14	p.V611Gfs*14	ENST00000260045	NM_004705.2	611	gTCATG/g	0	.	.	.	.	.	-	VM/X	protein_coding	YES	CCDS8243.1	1832-1836	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGTCCCATGACTGAG	NONE	.	.	hmmpanther:PTHR11697:SF10,hmmpanther:PTHR11697,Superfamily_domains:SSF53098	.	.	ENSP00000260045	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000260045	Transcript	.	.	ENSG00000137492	9440	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P52K_HUMAN	PRKRIR	HGNC	B4DS64_HUMAN	.	UPI0000131030	deletion	PRKRIR,frameshift_variant,p.Val611GlyfsTer14,ENST00000260045,;PRKRIR,downstream_gene_variant,,ENST00000531878,;PRKRIR,non_coding_transcript_exon_variant,,ENST00000529901,;PRKRIR,downstream_gene_variant,,ENST00000528993,;PRKRIR,downstream_gene_variant,,ENST00000525277,;	1938-1942	121	119	SUCCESS
RIMBP2	23504	.	GRCh37	12	130926833	130926833	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	20	101	0	ENST00000261655.4:c.1013A>T	p.Lys338Met	p.K338M	ENST00000261655	NM_015347.4	338	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS31925.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTTGTCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000261655	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000261655	Transcript	.	.	ENSG00000060709	30339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	deleterious(0.03)	.	RIMB2_HUMAN	RIMBP2	HGNC	F5H3X3_HUMAN	.	UPI00001C1F42	SNV	RIMBP2,missense_variant,p.Lys246Met,ENST00000536002,;RIMBP2,missense_variant,p.Lys338Met,ENST00000261655,;RIMBP2,missense_variant,p.Lys246Met,ENST00000535703,;	1177	101	118	SUCCESS
KMT2D	8085	.	GRCh37	12	49431178	49431178	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs793888512	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	22	103	0	ENST00000301067.7:c.9961C>T	p.Arg3321Ter	p.R3321*	ENST00000301067	NM_003482.3	3321	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS44873.1	9961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic	CTGTCGGGCAC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	34/54	.	.	.	.	.	.	.	.	CM105475,rs793888512,COSM221060,COSM221061	34/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	0,0,1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,stop_gained,p.Arg3321Ter,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;	9961	103	110	SUCCESS
CCDC168	643677	.	GRCh37	13	103385419	103385419	+	synonymous_variant	Silent	SNP	C	C	T	rs375803026	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	80	0	ENST00000322527.2:c.3741G>A	p.Ala1247=	p.A1247=	ENST00000322527	NM_001146197.1	1247	gcG/gcA	0	T:0	.	.	.	.	T	A	protein_coding	YES	.	3741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCGCTGT	NONE	byFrequency|byCluster	.	.	.	T:0.0003	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	rs375803026	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,synonymous_variant,p.%3D,ENST00000322527,;	3741	80	64	SUCCESS
APEX1	328	.	GRCh37	14	20925369	20925369	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	103	0	ENST00000216714.3:c.659T>C	p.Leu220Pro	p.L220P	ENST00000216714	NM_001244249.1	220	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9550.1	659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTTCGCA	BUFFER|p.E216E|c.648A>G|3,BUFFER|p.R221H|c.662G>A|3	.	.	Superfamily_domains:SSF56219,TIGRFAM_domain:TIGR00195,Gene3D:3.60.10.10,Pfam_domain:PF03372,TIGRFAM_domain:TIGR00633,hmmpanther:PTHR22748,PROSITE_profiles:PS51435	.	.	ENSP00000216714	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000216714	Transcript	.	.	ENSG00000100823	587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	APEX1_HUMAN	APEX1	HGNC	Q5TZP7_HUMAN,G3V5D9_HUMAN,G3V3M6_HUMAN,G3V3C7_HUMAN	.	UPI000000CBFE	SNV	APEX1,missense_variant,p.Leu147Pro,ENST00000438886,;APEX1,missense_variant,p.Leu220Pro,ENST00000398030,;APEX1,missense_variant,p.Leu220Pro,ENST00000555414,;APEX1,missense_variant,p.Leu220Pro,ENST00000553681,;APEX1,missense_variant,p.Leu191Pro,ENST00000555839,;APEX1,missense_variant,p.Leu220Pro,ENST00000216714,;APEX1,3_prime_UTR_variant,,ENST00000557054,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000553368,;OSGEP,upstream_gene_variant,,ENST00000555223,;OSGEP,upstream_gene_variant,,ENST00000206542,;TMEM55B,downstream_gene_variant,,ENST00000554028,;TMEM55B,downstream_gene_variant,,ENST00000398020,;TMEM55B,downstream_gene_variant,,ENST00000553460,;APEX1,downstream_gene_variant,,ENST00000557181,;OSGEP,upstream_gene_variant,,ENST00000488532,;TMEM55B,downstream_gene_variant,,ENST00000556093,;TMEM55B,downstream_gene_variant,,ENST00000250489,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;APEX1,non_coding_transcript_exon_variant,,ENST00000557365,;OSGEP,upstream_gene_variant,,ENST00000556252,;APEX1,downstream_gene_variant,,ENST00000556296,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000554813,;APEX1,non_coding_transcript_exon_variant,,ENST00000553555,;APEX1,non_coding_transcript_exon_variant,,ENST00000557159,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;TMEM55B,downstream_gene_variant,,ENST00000557041,;TMEM55B,downstream_gene_variant,,ENST00000553602,;APEX1,downstream_gene_variant,,ENST00000554325,;	927	103	114	SUCCESS
SERPINA11	256394	.	GRCh37	14	94912770	94912770	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	23	90	0	ENST00000334708.3:c.815C>T	p.Ala272Val	p.A272V	ENST00000334708	NM_001080451.1	272	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32149.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGCATTT	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000335024	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000334708	Transcript	.	.	ENSG00000186910	19193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	tolerated(0.21)	.	SPA11_HUMAN	SERPINA11	HGNC	.	.	UPI000015DA3A	SNV	SERPINA11,missense_variant,p.Ala272Val,ENST00000334708,;RP11-349I1.2,intron_variant,,ENST00000536735,;	880	90	109	SUCCESS
HERC2	8924	.	GRCh37	15	28412958	28412958	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1431780967	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	61	0	ENST00000261609.7:c.10429G>T	p.Asp3477Tyr	p.D3477Y	ENST00000261609	NM_004667.5	3477	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10021.1	10429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTCCTCAG	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	68/93	.	.	.	.	.	.	.	.	.	68/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.332)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Asp135Tyr,ENST00000569772,;HERC2,missense_variant,p.Asp3477Tyr,ENST00000261609,;	10538	61	79	SUCCESS
TUBGCP4	27229	.	GRCh37	15	43668706	43668706	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	87	0	ENST00000260383.7:c.213C>A	p.His71Gln	p.H71Q	ENST00000260383	NM_001286414.1	71	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS42030.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCACCATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19302,Pfam_domain:PF04130	.	.	ENSP00000456648	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000564079	Transcript	1	.	ENSG00000137822	16691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.74)	.	GCP4_HUMAN	TUBGCP4	HGNC	.	.	UPI0000169EEB	SNV	TUBGCP4,missense_variant,p.His71Gln,ENST00000260383,;TUBGCP4,missense_variant,p.His71Gln,ENST00000564079,;TUBGCP4,upstream_gene_variant,,ENST00000399460,;TUBGCP4,non_coding_transcript_exon_variant,,ENST00000570081,;TUBGCP4,3_prime_UTR_variant,,ENST00000563517,;TUBGCP4,upstream_gene_variant,,ENST00000564511,;TUBGCP4,upstream_gene_variant,,ENST00000561691,;TUBGCP4,upstream_gene_variant,,ENST00000563412,;	453	87	81	SUCCESS
CSPG4	1464	.	GRCh37	15	75968668	75968668	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	31	0	ENST00000308508.5:c.6192C>A	p.Asp2064Glu	p.D2064E	ENST00000308508	NM_001897.4	2064	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS10284.1	6192	MUTECT|MUSE	.	GTGGGGTCCAG	NONE	.	.	hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	.	ENSP00000312506	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0.02)	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,missense_variant,p.Asp2064Glu,ENST00000308508,;AC105020.1,upstream_gene_variant,,ENST00000435356,;CTD-2026K11.1,non_coding_transcript_exon_variant,,ENST00000569467,;	6285	31	31	SUCCESS
CRAMP1L	0	.	GRCh37	16	1715078	1715078	+	synonymous_variant	Silent	SNP	A	A	G	rs762690791	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	73	0	ENST00000293925.5:c.2691A>G	p.Pro897=	p.P897=	ENST00000293925	NM_020825.3	897	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS10440.2	2691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCATCGGA	NONE	.	.	hmmpanther:PTHR21677	.	.	ENSP00000380559	.	14/21	.	.	.	.	.	.	.	.	rs762690791	14/21	PASS	ENST00000397412	Transcript	.	.	ENSG00000007545	14122	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRML_HUMAN	CRAMP1L	HGNC	B2RNX8_HUMAN	.	UPI000066D946	SNV	CRAMP1L,synonymous_variant,p.%3D,ENST00000436138,;CRAMP1L,synonymous_variant,p.%3D,ENST00000293925,;CRAMP1L,synonymous_variant,p.%3D,ENST00000397412,;CRAMP1L,synonymous_variant,p.%3D,ENST00000415022,;CRAMP1L,synonymous_variant,p.%3D,ENST00000262317,;LA16c-431H6.6,3_prime_UTR_variant,,ENST00000454337,;CRAMP1L,non_coding_transcript_exon_variant,,ENST00000466562,;CRAMP1L,non_coding_transcript_exon_variant,,ENST00000492778,;CRAMP1L,non_coding_transcript_exon_variant,,ENST00000498594,;CRAMP1L,upstream_gene_variant,,ENST00000467286,;	2790	73	67	SUCCESS
GRB7	2886	.	GRCh37	17	37901708	37901708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	48	0	ENST00000309156.4:c.1126G>A	p.Asp376Asn	p.D376N	ENST00000309156	NM_005310.3	376	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS56028.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGACTTC	NONE	.	.	hmmpanther:PTHR11243:SF24,hmmpanther:PTHR11243,Pfam_domain:PF08947	.	.	ENSP00000403459	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000445327	Transcript	.	.	ENSG00000141738	4567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRB7_HUMAN	GRB7	HGNC	.	.	UPI0001AE662D	SNV	GRB7,missense_variant,p.Asp376Asn,ENST00000394209,;GRB7,missense_variant,p.Asp399Asn,ENST00000445327,;GRB7,missense_variant,p.Asp376Asn,ENST00000394211,;GRB7,missense_variant,p.Asp376Asn,ENST00000309185,;GRB7,missense_variant,p.Asp376Asn,ENST00000394204,;GRB7,missense_variant,p.Asp376Asn,ENST00000309156,;GRB7,downstream_gene_variant,,ENST00000577695,;GRB7,downstream_gene_variant,,ENST00000578702,;GRB7,downstream_gene_variant,,ENST00000473071,;GRB7,downstream_gene_variant,,ENST00000461756,;GRB7,downstream_gene_variant,,ENST00000584053,;GRB7,downstream_gene_variant,,ENST00000485182,;GRB7,downstream_gene_variant,,ENST00000584819,;GRB7,downstream_gene_variant,,ENST00000583813,;	1330	48	43	SUCCESS
TNRC6C	57690	.	GRCh37	17	76075532	76075532	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	52	0	ENST00000301624.4:c.3267C>T	p.Thr1089=	p.T1089=	ENST00000301624	NM_018996.3	1089	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS45799.1	3258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCATGCA	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9,Pfam_domain:PF12938	.	.	ENSP00000336783	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000335749	Transcript	.	.	ENSG00000078687	29318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TNRC6C	HGNC	K7ELY5_HUMAN,K7EKN9_HUMAN,G3XAB8_HUMAN	.	UPI0000EE5F80	SNV	TNRC6C,synonymous_variant,p.%3D,ENST00000301624,;TNRC6C,synonymous_variant,p.%3D,ENST00000335749,;TNRC6C,synonymous_variant,p.%3D,ENST00000544502,;TNRC6C,synonymous_variant,p.%3D,ENST00000541771,;TNRC6C,synonymous_variant,p.%3D,ENST00000588061,;TNRC6C,synonymous_variant,p.%3D,ENST00000588847,;TNRC6C,downstream_gene_variant,,ENST00000587990,;TNRC6C,downstream_gene_variant,,ENST00000591851,;	3827	52	51	SUCCESS
OSBPL1A	114876	.	GRCh37	18	21743143	21743143	+	stop_retained_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	76	0	ENST00000319481.3:c.2853A>G	p.Ter951=	p.*951=	ENST00000319481	NM_080597.3	951	taA/taG	0	.	.	.	.	.	C	*	protein_coding	YES	CCDS11884.1	2853	RADIA|MUTECT|MUSE	.	GCATTTTAATA	NONE	.	.	.	.	.	ENSP00000320291	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000319481	Transcript	.	.	ENSG00000141447	16398	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OSBL1_HUMAN	OSBPL1A	HGNC	Q96IZ3_HUMAN,Q6GSK5_HUMAN,B0YJ56_HUMAN	.	UPI0000130E95	SNV	OSBPL1A,stop_retained_variant,p.%3D,ENST00000319481,;OSBPL1A,stop_retained_variant,p.%3D,ENST00000399443,;OSBPL1A,stop_retained_variant,p.%3D,ENST00000578013,;OSBPL1A,stop_retained_variant,p.%3D,ENST00000357041,;CABYR,downstream_gene_variant,,ENST00000415309,;CABYR,downstream_gene_variant,,ENST00000399481,;CABYR,downstream_gene_variant,,ENST00000399499,;CABYR,downstream_gene_variant,,ENST00000399496,;CABYR,downstream_gene_variant,,ENST00000327201,;CABYR,downstream_gene_variant,,ENST00000581397,;RP11-799B12.4,upstream_gene_variant,,ENST00000583267,;CABYR,downstream_gene_variant,,ENST00000582229,;CABYR,downstream_gene_variant,,ENST00000486759,;CABYR,downstream_gene_variant,,ENST00000463087,;	3060	76	96	SUCCESS
OSBPL1A	114876	.	GRCh37	18	21743153	21743153	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	80	1	ENST00000319481.3:c.2843A>G	p.Asp948Gly	p.D948G	ENST00000319481	NM_080597.3	948	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS11884.1	2843	RADIA|MUTECT|MUSE	.	AAATGTCAGGC	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF53	.	.	ENSP00000320291	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000319481	Transcript	.	.	ENSG00000141447	16398	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	OSBL1_HUMAN	OSBPL1A	HGNC	Q96IZ3_HUMAN,Q6GSK5_HUMAN,B0YJ56_HUMAN	.	UPI0000130E95	SNV	OSBPL1A,missense_variant,p.Asp948Gly,ENST00000319481,;OSBPL1A,missense_variant,p.Asp435Gly,ENST00000399443,;OSBPL1A,missense_variant,p.Asp283Gly,ENST00000578013,;OSBPL1A,missense_variant,p.Asp566Gly,ENST00000357041,;CABYR,downstream_gene_variant,,ENST00000415309,;CABYR,downstream_gene_variant,,ENST00000399481,;CABYR,downstream_gene_variant,,ENST00000399499,;CABYR,downstream_gene_variant,,ENST00000399496,;CABYR,downstream_gene_variant,,ENST00000327201,;CABYR,downstream_gene_variant,,ENST00000581397,;RP11-799B12.4,upstream_gene_variant,,ENST00000583267,;CABYR,downstream_gene_variant,,ENST00000582229,;CABYR,downstream_gene_variant,,ENST00000486759,;CABYR,downstream_gene_variant,,ENST00000463087,;	3050	81	98	SUCCESS
MYOM1	8736	.	GRCh37	18	3129395	3129395	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	11	89	0	ENST00000356443.4:c.2629A>C	p.Ser877Arg	p.S877R	ENST00000356443	NM_019856.1	877	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS45824.1	2629	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTGCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900	.	.	ENSP00000348821	.	18/38	.	.	.	.	.	.	.	.	.	18/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.186)	.	tolerated(0.16)	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Ser877Arg,ENST00000356443,;MYOM1,missense_variant,p.Ser877Arg,ENST00000400569,;MYOM1,intron_variant,,ENST00000261606,;MYOM1,non_coding_transcript_exon_variant,,ENST00000582016,;	2963	89	117	SUCCESS
MIDN	90007	.	GRCh37	19	1257098	1257098	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773701369	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	65	0	ENST00000300952.2:c.1234G>A	p.Ala412Thr	p.A412T	ENST00000300952	NM_177401.4	412	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32864.1	1234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACGCGCGG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23010,hmmpanther:PTHR23010:SF0	.	.	ENSP00000300952	.	8/8	.	.	.	.	.	.	.	.	rs773701369	8/8	PASS	ENST00000300952	Transcript	.	.	ENSG00000167470	16298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	deleterious(0.04)	.	MIDN_HUMAN	MIDN	HGNC	K7END3_HUMAN	.	UPI0000202EF1	SNV	MIDN,missense_variant,p.Ala412Thr,ENST00000300952,;MIDN,missense_variant,p.Ala412Thr,ENST00000591446,;CIRBP,upstream_gene_variant,,ENST00000592051,;MIDN,downstream_gene_variant,,ENST00000586843,;CIRBP,upstream_gene_variant,,ENST00000588411,;CIRBP,upstream_gene_variant,,ENST00000588030,;MIDN,downstream_gene_variant,,ENST00000591302,;MIDN,downstream_gene_variant,,ENST00000590136,;CIRBP,upstream_gene_variant,,ENST00000592467,;CIRBP,upstream_gene_variant,,ENST00000591622,;CIRBP,upstream_gene_variant,,ENST00000589161,;	1749	65	72	SUCCESS
CALR	811	.	GRCh37	19	13054677	13054677	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	264	75	263	0	ENST00000316448.5:c.1204G>T	p.Glu402Ter	p.E402*	ENST00000316448	NM_004343.3	402	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12288.1	1204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGGAGGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF8,PIRSF_domain:PIRSF002356	.	.	ENSP00000320866	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000316448	Transcript	1	.	ENSG00000179218	1455	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALR_HUMAN	CALR	HGNC	B4E2Y9_HUMAN	.	UPI000004CEC9	SNV	CALR,stop_gained,p.Glu402Ter,ENST00000316448,;CALR,intron_variant,,ENST00000586760,;RAD23A,upstream_gene_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000588454,;RAD23A,upstream_gene_variant,,ENST00000316856,;RAD23A,upstream_gene_variant,,ENST00000592268,;RAD23A,upstream_gene_variant,,ENST00000586534,;CTC-425F1.4,downstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;CALR,non_coding_transcript_exon_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000590325,;RAD23A,upstream_gene_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000587486,;RAD23A,upstream_gene_variant,,ENST00000591499,;CALR,upstream_gene_variant,,ENST00000586967,;RAD23A,upstream_gene_variant,,ENST00000593114,;RAD23A,upstream_gene_variant,,ENST00000586375,;	1277	263	340	SUCCESS
CACNA1A	773	.	GRCh37	19	13616815	13616815	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	759	255	952	0	ENST00000360228.5:c.224A>T	p.Asn75Ile	p.N75I	ENST00000360228	NM_001127222.1	75	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS45998.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGGTTAACC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59	.	.	ENSP00000353362	.	1/47	.	.	.	.	.	.	.	.	.	1/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Asn75Ile,ENST00000573710,;CACNA1A,missense_variant,p.Asn75Ile,ENST00000360228,;CACNA1A,intron_variant,,ENST00000574974,;	224	952	1015	SUCCESS
TM6SF2	53345	.	GRCh37	19	19379472	19379472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	84	0	ENST00000389363.4:c.576G>T	p.Gln192His	p.Q192H	ENST00000389363	NM_001001524.2	192	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS42528.1	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCTGGCT	NONE	.	.	hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF9	.	.	ENSP00000374014	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000389363	Transcript	.	.	ENSG00000213996	11861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	TM6S2_HUMAN	TM6SF2	HGNC	.	.	UPI0000366D60	SNV	TM6SF2,missense_variant,p.Gln192His,ENST00000389363,;TM6SF2,downstream_gene_variant,,ENST00000586107,;AC138430.4,intron_variant,,ENST00000586064,;TM6SF2,intron_variant,,ENST00000431465,;TM6SF2,intron_variant,,ENST00000591001,;TM6SF2,upstream_gene_variant,,ENST00000590431,;	649	84	109	SUCCESS
WDR87	83889	.	GRCh37	19	38383766	38383766	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	78	0	ENST00000303868.5:c.2460A>G	p.Gln820=	p.Q820=	ENST00000303868	NM_031951.3	820	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS46063.1	2460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTTGAGA	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,synonymous_variant,p.%3D,ENST00000447313,;WDR87,synonymous_variant,p.%3D,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	2685	78	73	SUCCESS
IRGQ	126298	.	GRCh37	19	44097345	44097345	+	synonymous_variant	Silent	SNP	C	C	A	rs1336054183	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	69	0	ENST00000422989.1:c.705G>T	p.Val235=	p.V235=	ENST00000422989	NM_001007561.2	235	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33040.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCACGTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51716,hmmpanther:PTHR19364,hmmpanther:PTHR19364:SF2	.	.	ENSP00000387535	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422989	Transcript	.	.	ENSG00000167378	24868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRGQ_HUMAN	IRGQ	HGNC	M0QZP8_HUMAN	.	UPI000003FDB6	SNV	IRGQ,synonymous_variant,p.%3D,ENST00000422989,;IRGQ,synonymous_variant,p.%3D,ENST00000602269,;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000528387,;SRRM5,upstream_gene_variant,,ENST00000607544,;ZNF576,upstream_gene_variant,,ENST00000391965,;L34079.2,upstream_gene_variant,,ENST00000594374,;ZNF576,upstream_gene_variant,,ENST00000336564,;SRRM5,upstream_gene_variant,,ENST00000526798,;ZNF576,upstream_gene_variant,,ENST00000529930,;IRGQ,downstream_gene_variant,,ENST00000598324,;ZNF576,upstream_gene_variant,,ENST00000533118,;IRGQ,upstream_gene_variant,,ENST00000601520,;IRGQ,upstream_gene_variant,,ENST00000596409,;ZNF576,upstream_gene_variant,,ENST00000595041,;	861	69	87	SUCCESS
C1orf159	54991	.	GRCh37	1	1026959	1026959	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	24	0	ENST00000379339.1:c.-22-14C>T		p.*8*	ENST00000379339				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7.2	.	MUTECT|MUSE	.	GGGAGGAGCAT	NONE	.	.	.	.	.	ENSP00000400736	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421241	Transcript	.	.	ENSG00000131591	26062	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA159_HUMAN	C1orf159	HGNC	J3QRL0_HUMAN,J3KSJ6_HUMAN,B2REC4_HUMAN	.	UPI0000049DAC	SNV	C1orf159,5_prime_UTR_variant,,ENST00000379320,;C1orf159,5_prime_UTR_variant,,ENST00000475119,;C1orf159,intron_variant,,ENST00000379339,;C1orf159,intron_variant,,ENST00000294576,;C1orf159,intron_variant,,ENST00000427787,;C1orf159,intron_variant,,ENST00000379319,;C1orf159,intron_variant,,ENST00000480643,;C1orf159,intron_variant,,ENST00000442117,;C1orf159,intron_variant,,ENST00000448924,;C1orf159,intron_variant,,ENST00000462097,;C1orf159,intron_variant,,ENST00000421241,;C1orf159,intron_variant,,ENST00000434641,;C1orf159,intron_variant,,ENST00000437760,;C1orf159,intron_variant,,ENST00000482816,;C1orf159,intron_variant,,ENST00000467751,;C1orf159,intron_variant,,ENST00000472741,;C1orf159,intron_variant,,ENST00000473600,;C1orf159,intron_variant,,ENST00000465822,;C1orf159,intron_variant,,ENST00000477196,;C1orf159,intron_variant,,ENST00000379325,;C1orf159,upstream_gene_variant,,ENST00000487177,;	.	24	25	SUCCESS
CLCN6	1185	.	GRCh37	1	11886262	11886262	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	68	0	ENST00000346436.6:c.698G>T	p.Arg233Leu	p.R233L	ENST00000346436	NM_001286.3	233	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS138.1	698	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCGAAGCG	NONE	.	.	Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69	.	.	ENSP00000234488	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000346436	Transcript	.	.	ENSG00000011021	2024	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	CLCN6_HUMAN	CLCN6	HGNC	.	.	UPI000013F2D3	SNV	CLCN6,missense_variant,p.Arg211Leu,ENST00000376487,;CLCN6,missense_variant,p.Arg233Leu,ENST00000346436,;CLCN6,missense_variant,p.Arg233Leu,ENST00000376496,;CLCN6,missense_variant,p.Arg233Leu,ENST00000312413,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376490,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376492,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376491,;CLCN6,upstream_gene_variant,,ENST00000494028,;	750	68	56	SUCCESS
DENND1B	163486	.	GRCh37	1	197704922	197704922	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	26	0	ENST00000367396.3:c.83-20718C>T		p.*28*	ENST00000367396	NM_144977.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41452.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGACTGTCCTC	NONE	.	.	.	.	.	ENSP00000356366	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367396	Transcript	.	.	ENSG00000213047	28404	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DEN1B_HUMAN	DENND1B	HGNC	.	.	UPI0000227E74	SNV	DENND1B,5_prime_UTR_variant,,ENST00000235453,;DENND1B,intron_variant,,ENST00000422998,;DENND1B,intron_variant,,ENST00000367396,;DENND1B,upstream_gene_variant,,ENST00000400967,;DENND1B,non_coding_transcript_exon_variant,,ENST00000477581,;DENND1B,upstream_gene_variant,,ENST00000294738,;DENND1B,non_coding_transcript_exon_variant,,ENST00000495550,;DENND1B,non_coding_transcript_exon_variant,,ENST00000468589,;DENND1B,intron_variant,,ENST00000294737,;RP11-448G4.2,non_coding_transcript_exon_variant,,ENST00000447479,;	.	26	36	SUCCESS
NUP133	55746	.	GRCh37	1	229623290	229623290	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760628456	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	49	0	ENST00000261396.3:c.1265A>G	p.Glu422Gly	p.E422G	ENST00000261396	NM_018230.2	422	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS1579.1	1265	MUTECT|MUSE	.	CACTTTCGTTA	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	10/26	.	.	.	.	.	.	.	.	rs760628456	10/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.247)	.	tolerated(0.1)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Glu406Gly,ENST00000537506,;NUP133,missense_variant,p.Glu422Gly,ENST00000261396,;	1357	49	104	SUCCESS
KIF26B	55083	.	GRCh37	1	245772752	245772752	+	synonymous_variant	Silent	SNP	G	G	A	rs1044237441	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	49	206	0	ENST00000407071.2:c.1836G>A	p.Ser612=	p.S612=	ENST00000407071	NM_018012.3	612	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS44342.1	1836	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGGAGGT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000385545	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;	2276	206	285	SUCCESS
OR2T12	127064	.	GRCh37	1	248458151	248458151	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369908991	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	206	250	0	ENST00000317996.1:c.730G>T	p.Ala244Ser	p.A244S	ENST00000317996	NM_001004692.1	244	Gct/Tct	0	A:0.0002	A:0.0008	.	A:0	.	A	A/S	protein_coding	YES	CCDS31110.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCACAT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	A:0	ENSP00000324583	A:0	1/1	.	.	.	.	.	.	.	.	rs369908991	1/1	PASS	ENST00000317996	Transcript	.	A:0.0002	ENSG00000177201	19592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	A:0	tolerated(0.41)	.	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,missense_variant,p.Ala244Ser,ENST00000317996,;	730	250	421	SUCCESS
SH3BP5L	80851	.	GRCh37	1	249106244	249106244	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	25	91	0	ENST00000366472.5:c.1037A>G	p.Gln346Arg	p.Q346R	ENST00000366472	NM_030645.1	346	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS31126.1	1037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGCAGG	NONE	.	.	hmmpanther:PTHR19423	.	.	ENSP00000355428	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000366472	Transcript	.	.	ENSG00000175137	29360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious_low_confidence(0)	.	3BP5L_HUMAN	SH3BP5L	HGNC	Q96MW4_HUMAN,Q96ET3_HUMAN	.	UPI000003F53A	SNV	SH3BP5L,missense_variant,p.Gln314Arg,ENST00000411742,;SH3BP5L,missense_variant,p.Gln346Arg,ENST00000366472,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000475978,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000484202,;SH3BP5L,downstream_gene_variant,,ENST00000494837,;	2267	91	130	SUCCESS
FAM65C	0	.	GRCh37	20	49247308	49247308	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	48	129	0	ENST00000327979.2:c.77C>A	p.Ala26Glu	p.A26E	ENST00000327979		26	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS13431.2	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTGCGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Ala26Glu,ENST00000327979,;FAM65C,missense_variant,p.Ala30Glu,ENST00000535356,;FAM65C,missense_variant,p.Ala26Glu,ENST00000045083,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	489	129	161	SUCCESS
SLC52A3	113278	.	GRCh37	20	746297	746297	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	95	0	ENST00000217254.7:c.122C>T	p.Pro41Leu	p.P41L	ENST00000217254	NM_033409.3	41	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13007.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGCAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF4,hmmpanther:PTHR12929	.	.	ENSP00000217254	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000217254	Transcript	1	.	ENSG00000101276	16187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	S52A3_HUMAN	SLC52A3	HGNC	K0A6P4_HUMAN	.	UPI000002A74E	SNV	SLC52A3,missense_variant,p.Pro41Leu,ENST00000381944,;SLC52A3,missense_variant,p.Pro41Leu,ENST00000217254,;SLC52A3,non_coding_transcript_exon_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	364	95	99	SUCCESS
SLC52A3	113278	.	GRCh37	20	746298	746298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	95	0	ENST00000217254.7:c.121C>A	p.Pro41Thr	p.P41T	ENST00000217254	NM_033409.3	41	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS13007.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGCAGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF4,hmmpanther:PTHR12929	.	.	ENSP00000217254	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000217254	Transcript	1	.	ENSG00000101276	16187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	S52A3_HUMAN	SLC52A3	HGNC	K0A6P4_HUMAN	.	UPI000002A74E	SNV	SLC52A3,missense_variant,p.Pro41Thr,ENST00000381944,;SLC52A3,missense_variant,p.Pro41Thr,ENST00000217254,;SLC52A3,non_coding_transcript_exon_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	363	95	101	SUCCESS
LAMP5	24141	.	GRCh37	20	9510365	9510365	+	synonymous_variant	Silent	SNP	C	C	T	rs186841002	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	14	78	0	ENST00000246070.2:c.741C>T	p.Leu247=	p.L247=	ENST00000246070	NM_012261.3	247	ctC/ctT	0	T:0.0002	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS13106.1	741	RADIA|MUTECT|MUSE|VARSCANS	not_provided	GGCCTCGTCAT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11506,Pfam_domain:PF01299	T:0	T:0.0003	ENSP00000246070	T:0.002	6/6	.	.	.	.	.	.	.	.	rs186841002	6/6	PASS	ENST00000246070	Transcript	.	T:0.0004	ENSG00000125869	16097	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	T:0	.	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,synonymous_variant,p.%3D,ENST00000246070,;LAMP5,synonymous_variant,p.%3D,ENST00000427562,;	1233	78	125	SUCCESS
RWDD2B	10069	.	GRCh37	21	30380212	30380212	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	57	0	ENST00000493196.1:c.595A>C	p.Asn199His	p.N199H	ENST00000493196	NM_016940.2	199	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS13582.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTATAGA	NONE	.	.	hmmpanther:PTHR15955:SF3,hmmpanther:PTHR15955,Pfam_domain:PF06544,PIRSF_domain:PIRSF038021	.	.	ENSP00000418693	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000493196	Transcript	.	.	ENSG00000156253	1302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	RWD2B_HUMAN	RWDD2B	HGNC	.	.	UPI00000467EE	SNV	RWDD2B,missense_variant,p.Asn199His,ENST00000493196,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000286777,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000486719,;RWDD2B,downstream_gene_variant,,ENST00000471269,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000466746,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000472184,;RWDD2B,downstream_gene_variant,,ENST00000481411,;	696	57	68	SUCCESS
ZNF280A	129025	.	GRCh37	22	22868555	22868555	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764406269	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	88	0	ENST00000302097.3:c.1400T>C	p.Ile467Thr	p.I467T	ENST00000302097	NM_080740.3	467	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS13800.1	1400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTATTTCC	NONE	byFrequency	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF121,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000302855	.	2/2	.	.	.	.	.	.	.	.	rs764406269	2/2	PASS	ENST00000302097	Transcript	.	.	ENSG00000169548	18597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.23)	.	Z280A_HUMAN	ZNF280A	HGNC	.	.	UPI000013E78F	SNV	ZNF280A,missense_variant,p.Ile467Thr,ENST00000302097,;snoU13,upstream_gene_variant,,ENST00000459485,;	1653	88	95	SUCCESS
MYO1B	4430	.	GRCh37	2	192265476	192265476	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs765571133	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	6	103	0	ENST00000304164.4:c.2384C>T	p.Ala795Val	p.A795V	ENST00000304164	NM_001161819.1	795	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46477.1	2384	MUTECT|MUSE	.	ACAGGCACGAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,SMART_domains:SM00015,Superfamily_domains:SSF52540	.	.	ENSP00000376132	.	23/31	.	.	.	.	.	.	.	.	rs765571133	23/31	PASS	ENST00000392318	Transcript	.	.	ENSG00000128641	7596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.534)	.	tolerated(0.33)	.	MYO1B_HUMAN	MYO1B	HGNC	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN	.	UPI00001A9466	SNV	MYO1B,missense_variant,p.Ala795Val,ENST00000392318,;MYO1B,missense_variant,p.Ala795Val,ENST00000304164,;MYO1B,intron_variant,,ENST00000392316,;MYO1B,intron_variant,,ENST00000339514,;MYO1B,intron_variant,,ENST00000439065,;MYO1B,upstream_gene_variant,,ENST00000490069,;	2631	103	107	SUCCESS
SDPR	0	.	GRCh37	2	192700699	192700699	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	20	0	ENST00000304141.4:c.1228G>A	p.Asp410Asn	p.D410N	ENST00000304141	NM_004657.5	410	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS2313.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCGGAGC	NONE	.	.	hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240	.	.	ENSP00000305675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304141	Transcript	.	.	ENSG00000168497	10690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.06)	.	SDPR_HUMAN	SDPR	HGNC	.	.	UPI00000373C3	SNV	SDPR,missense_variant,p.Asp410Asn,ENST00000304141,;	1558	20	38	SUCCESS
NYAP2	57624	.	GRCh37	2	226447236	226447236	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	49	168	0	ENST00000272907.6:c.1103A>G	p.Asn368Ser	p.N368S	ENST00000272907	NM_020864.1	368	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS46529.1	1103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAACGTGT	NONE	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633	.	.	ENSP00000272907	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	deleterious(0.02)	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,missense_variant,p.Asn368Ser,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	1516	168	240	SUCCESS
ATAD2B	54454	.	GRCh37	2	24033262	24033262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	16	96	0	ENST00000238789.5:c.2378G>T	p.Arg793Ile	p.R793I	ENST00000238789	NM_001242338.1	793	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS46227.1	2378	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCTTTCT	NONE	.	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000238789	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	deleterious(0)	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,missense_variant,p.Arg793Ile,ENST00000238789,;ATAD2B,missense_variant,p.Arg74Ile,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000498006,;	2722	96	111	SUCCESS
PRR23B	389151	.	GRCh37	3	138739004	138739004	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376706999	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	14	127	0	ENST00000329447.5:c.500G>T	p.Arg167Leu	p.R167L	ENST00000329447	NM_001013650.2	167	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS33868.1	500	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCGGAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF2,Pfam_domain:PF10630	.	T:0.0001	ENSP00000328768	.	1/1	.	.	.	.	.	.	.	.	rs376706999,COSM728156,COSM3588049	1/1	PASS	ENST00000329447	Transcript	.	.	ENSG00000184814	33764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.226)	.	tolerated(0.4)	0,1,1	PR23B_HUMAN	PRR23B	HGNC	.	.	UPI00001C0F1A	SNV	PRR23B,missense_variant,p.Arg167Leu,ENST00000329447,;MRPS22,intron_variant,,ENST00000495075,;	765	127	126	SUCCESS
TFRC	7037	.	GRCh37	3	195787062	195787062	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	94	0	ENST00000360110.4:c.1525A>G	p.Thr509Ala	p.T509A	ENST00000360110	NM_001128148.1	509	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3312.1	1525	MUTECT|MUSE|VARSCANS	.	CATTGTTTTCT	NONE	.	.	hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000353224	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000360110	Transcript	.	.	ENSG00000072274	11763	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.245)	.	tolerated(0.21)	.	TFR1_HUMAN	TFRC	HGNC	G3V0E5_HUMAN,F5H6B1_HUMAN	.	UPI0000049ADE	SNV	TFRC,missense_variant,p.Thr509Ala,ENST00000360110,;TFRC,missense_variant,p.Thr509Ala,ENST00000392396,;TFRC,missense_variant,p.Thr428Ala,ENST00000420415,;TFRC,missense_variant,p.Thr227Ala,ENST00000535031,;TFRC,3_prime_UTR_variant,,ENST00000540528,;TFRC,upstream_gene_variant,,ENST00000426789,;TFRC,non_coding_transcript_exon_variant,,ENST00000463356,;TFRC,non_coding_transcript_exon_variant,,ENST00000465288,;TFRC,non_coding_transcript_exon_variant,,ENST00000477148,;TFRC,non_coding_transcript_exon_variant,,ENST00000475593,;TFRC,non_coding_transcript_exon_variant,,ENST00000483983,;TFRC,upstream_gene_variant,,ENST00000463047,;TFRC,upstream_gene_variant,,ENST00000482479,;TFRC,downstream_gene_variant,,ENST00000464368,;	1695	94	78	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	15	107	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	107	112	SUCCESS
KLHL18	23276	.	GRCh37	3	47371504	47371504	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	62	0	ENST00000232766.5:c.465G>C	p.Leu155=	p.L155=	ENST00000232766	NM_025010.4	155	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33749.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGTACGA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF139,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000232766	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000232766	Transcript	.	.	ENSG00000114648	29120	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH18_HUMAN	KLHL18	HGNC	Q6PJF0_HUMAN,C9J4G4_HUMAN,B4DHW4_HUMAN	.	UPI00004703A5	SNV	KLHL18,synonymous_variant,p.%3D,ENST00000232766,;KLHL18,synonymous_variant,p.%3D,ENST00000455924,;KLHL18,3_prime_UTR_variant,,ENST00000442272,;KLHL18,non_coding_transcript_exon_variant,,ENST00000461084,;	485	62	51	SUCCESS
IL15	3600	.	GRCh37	4	142653941	142653941	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	28	231	0	ENST00000296545.7:c.429T>C	p.Asn143=	p.N143=	ENST00000296545		143	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS3755.1	429	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATATTAA	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01930,Superfamily_domains:SSF47266,Pfam_domain:PF02372,hmmpanther:PTHR11323,hmmpanther:PTHR11323:SF0	.	.	ENSP00000296545	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000296545	Transcript	.	.	ENSG00000164136	5977	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IL15_HUMAN	IL15	HGNC	.	.	UPI0000031AC7	SNV	IL15,synonymous_variant,p.%3D,ENST00000514653,;IL15,synonymous_variant,p.%3D,ENST00000394159,;IL15,synonymous_variant,p.%3D,ENST00000529613,;IL15,synonymous_variant,p.%3D,ENST00000296545,;IL15,synonymous_variant,p.%3D,ENST00000477265,;IL15,synonymous_variant,p.%3D,ENST00000320650,;IL15,downstream_gene_variant,,ENST00000509249,;	1273	231	225	SUCCESS
GUCY1A3	0	.	GRCh37	4	156618214	156618214	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	98	0	ENST00000296518.7:c.195T>A	p.Ser65Arg	p.S65R	ENST00000296518		65	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS34085.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGTCGGAG	NONE	.	.	hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920	.	.	ENSP00000296518	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000296518	Transcript	1	.	ENSG00000164116	4685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	tolerated(0.17)	.	GCYA3_HUMAN	GUCY1A3	HGNC	Q9NNW8_HUMAN,J3KPQ8_HUMAN	.	UPI0000033343	SNV	GUCY1A3,missense_variant,p.Ser65Arg,ENST00000506455,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000455639,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000513574,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000296518,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000511507,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000511108,;GUCY1A3,5_prime_UTR_variant,,ENST00000393832,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000515602,;GUCY1A3,splice_donor_variant,,ENST00000509901,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000515201,;GUCY1A3,missense_variant,p.Ser65Arg,ENST00000443668,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000512983,;	404	98	106	SUCCESS
STK32B	55351	.	GRCh37	4	5170142	5170142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	88	0	ENST00000282908.5:c.225G>T	p.Met75Ile	p.M75I	ENST00000282908	NM_018401.1	75	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS3380.1	225	MUTECT|MUSE	.	ATCATGCAAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000282908	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000282908	Transcript	.	.	ENSG00000152953	14217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.181)	.	deleterious(0)	.	ST32B_HUMAN	STK32B	HGNC	Q69YP0_HUMAN	.	UPI0000035B46	SNV	STK32B,missense_variant,p.Met28Ile,ENST00000510398,;STK32B,missense_variant,p.Met28Ile,ENST00000512636,;STK32B,missense_variant,p.Met75Ile,ENST00000282908,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	647	88	71	SUCCESS
POLR2B	5431	.	GRCh37	4	57871518	57871518	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1184970784	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	310	24	281	0	ENST00000314595.5:c.1007T>C	p.Ile336Thr	p.I336T	ENST00000314595	NM_000938.1	336	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3511.1	1007	MUTECT|MUSE	.	AAGAATTAAAT	NONE	.	.	Superfamily_domains:SSF64484,Gene3D:3.90.1110.10,Pfam_domain:PF04563,Pfam_domain:PF04561,hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856	.	.	ENSP00000370625	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000381227	Transcript	.	.	ENSG00000047315	9188	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.794)	.	deleterious(0.02)	.	RPB2_HUMAN	POLR2B	HGNC	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN	.	UPI00001345D1	SNV	POLR2B,missense_variant,p.Ile329Thr,ENST00000441246,;POLR2B,missense_variant,p.Ile261Thr,ENST00000431623,;POLR2B,missense_variant,p.Ile336Thr,ENST00000381227,;POLR2B,missense_variant,p.Ile336Thr,ENST00000314595,;RNU6-998P,downstream_gene_variant,,ENST00000515894,;POLR2B,upstream_gene_variant,,ENST00000510355,;POLR2B,upstream_gene_variant,,ENST00000478188,;	1420	281	334	SUCCESS
SHROOM3	57619	.	GRCh37	4	77662788	77662788	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	27	0	ENST00000296043.6:c.3462G>T	p.Thr1154=	p.T1154=	ENST00000296043	NM_020859.3	1154	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3579.2	3462	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCTCCT	NONE	.	.	hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	.	.	ENSP00000296043	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,synonymous_variant,p.%3D,ENST00000296043,;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,;	4415	27	34	SUCCESS
SPINK14	408187	.	GRCh37	5	147553855	147553855	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	23	138	0	ENST00000356972.1:c.170G>T	p.Cys57Phe	p.C57F	ENST00000356972	NM_001001325.1	57	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS4288.1	170	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTGCCCTG	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR21312:SF24,hmmpanther:PTHR21312,PROSITE_patterns:PS00282,Pfam_domain:PF00050,Gene3D:3.30.60.30,SMART_domains:SM00280,Superfamily_domains:SSF100895	.	.	ENSP00000349459	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000356972	Transcript	.	.	ENSG00000196800	33825	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ISK14_HUMAN	SPINK14	HGNC	M1EY23_HUMAN	.	UPI00003765C4	SNV	SPINK14,missense_variant,p.Cys57Phe,ENST00000356972,;SPINK14,intron_variant,,ENST00000562793,;	170	138	139	SUCCESS
RGMB	285704	.	GRCh37	5	98129071	98129071	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	53	0	ENST00000513185.1:c.928C>A	p.Gln310Lys	p.Q310K	ENST00000513185		310	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47251.1	1051	MUTECT|MUSE|VARSCANS	.	ACCTGCAGCTG	NONE	.	.	hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF5,Pfam_domain:PF06534	.	.	ENSP00000308219	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000308234	Transcript	.	.	ENSG00000174136	26896	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	.	RGMB	HGNC	J3KNF6_HUMAN	.	UPI00005926DF	SNV	RGMB,missense_variant,p.Gln351Lys,ENST00000308234,;RGMB,missense_variant,p.Gln310Lys,ENST00000513185,;RGMB,intron_variant,,ENST00000508978,;	1453	53	53	SUCCESS
MCM9	254394	.	GRCh37	6	119232871	119232871	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	74	0	ENST00000316316.6:c.1094C>T	p.Ala365Val	p.A365V	ENST00000316316	NM_017696.2	365	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS56447.1	1094	MUTECT|MUSE	.	TTGCTGCATAT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,SMART_domains:SM00350,Gene3D:3.40.50.300,Pfam_domain:PF00493,hmmpanther:PTHR11630:SF48,hmmpanther:PTHR11630,PROSITE_profiles:PS50051	.	.	ENSP00000314505	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000316316	Transcript	.	.	ENSG00000111877	21484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.02)	.	MCM9_HUMAN	MCM9	HGNC	D6RHY8_HUMAN,D6RE85_HUMAN	.	UPI0001AE7302	SNV	MCM9,missense_variant,p.Ala365Val,ENST00000316316,;MCM9,missense_variant,p.Ala365Val,ENST00000316068,;ASF1A,downstream_gene_variant,,ENST00000229595,;MCM9,non_coding_transcript_exon_variant,,ENST00000436788,;	1381	74	81	SUCCESS
WDR27	253769	.	GRCh37	6	170038751	170038751	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	4	117	0	ENST00000448612.1:c.1753G>T	p.Asp585Tyr	p.D585Y	ENST00000448612	NM_182552.4	585	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47520.2	1753	MUTECT|MUSE	.	CCCGTCGTGAC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF313,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998,Superfamily_domains:SSF50978	.	.	ENSP00000416289	.	18/26	.	.	.	.	.	.	.	.	COSM1741648,COSM1741647	18/26	PASS	ENST00000448612	Transcript	.	.	ENSG00000184465	21248	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	WDR27_HUMAN	WDR27	HGNC	F8VUY7_HUMAN	.	UPI00015E06AF	SNV	WDR27,missense_variant,p.Asp585Tyr,ENST00000448612,;WDR27,missense_variant,p.Asp585Tyr,ENST00000333572,;WDR27,missense_variant,p.Asp458Tyr,ENST00000423258,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;WDR27,non_coding_transcript_exon_variant,,ENST00000546525,;	1863	117	99	SUCCESS
ZKSCAN3	80317	.	GRCh37	6	28327497	28327497	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	89	0	ENST00000252211.2:c.134C>G	p.Ser45Cys	p.S45C	ENST00000252211	NM_024493.3	45	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS4650.1	134	MUTECT|MUSE|VARSCANS	.	GGGCTCCCGCG	NONE	.	.	hmmpanther:PTHR23226:SF55,hmmpanther:PTHR23226,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000366465	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000377255	Transcript	.	.	ENSG00000189298	13853	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.076)	.	tolerated(0.09)	.	ZKSC3_HUMAN	ZKSCAN3	HGNC	.	.	UPI000013CD4A	SNV	ZKSCAN3,missense_variant,p.Ser45Cys,ENST00000252211,;ZKSCAN3,missense_variant,p.Ser45Cys,ENST00000377255,;ZKSCAN3,intron_variant,,ENST00000341464,;ZSCAN31,upstream_gene_variant,,ENST00000414429,;	431	89	83	SUCCESS
CAPN11	11131	.	GRCh37	6	44137079	44137079	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	50	180	0	ENST00000398776.1:c.150G>T	p.Lys50Asn	p.K50N	ENST00000398776	NM_007058.3	50	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS47436.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGGGCGT	NONE	.	.	hmmpanther:PTHR10183:SF269,hmmpanther:PTHR10183,Superfamily_domains:SSF54001	.	.	ENSP00000381758	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000398776	Transcript	.	.	ENSG00000137225	1478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	tolerated(0.21)	.	CAN11_HUMAN	CAPN11	HGNC	.	.	UPI00000383D5	SNV	CAPN11,missense_variant,p.Lys50Asn,ENST00000398776,;CAPN11,missense_variant,p.Lys50Asn,ENST00000542245,;CAPN11,missense_variant,p.Lys80Asn,ENST00000532171,;CAPN11,3_prime_UTR_variant,,ENST00000526118,;	188	180	189	SUCCESS
ZNF451	26036	.	GRCh37	6	56955015	56955015	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	37	128	0	ENST00000370706.4:c.-37C>T		p.*13*	ENST00000370706	NM_001031623.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43477.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCAGGAG	NONE	.	.	.	.	.	ENSP00000359740	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,5_prime_UTR_variant,,ENST00000370710,;ZNF451,5_prime_UTR_variant,,ENST00000508603,;ZNF451,5_prime_UTR_variant,,ENST00000370706,;ZNF451,5_prime_UTR_variant,,ENST00000370702,;ZNF451,5_prime_UTR_variant,,ENST00000357489,;ZNF451,5_prime_UTR_variant,,ENST00000370708,;ZNF451,5_prime_UTR_variant,,ENST00000510483,;ZNF451,5_prime_UTR_variant,,ENST00000491832,;ZNF451,intron_variant,,ENST00000515290,;ZNF451,upstream_gene_variant,,ENST00000509071,;ZNF451,upstream_gene_variant,,ENST00000510989,;ZNF451,5_prime_UTR_variant,,ENST00000502749,;ZNF451,5_prime_UTR_variant,,ENST00000370711,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,upstream_gene_variant,,ENST00000504603,;	208	128	154	SUCCESS
PSPH	5723	.	GRCh37	7	56084931	56084931	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	52	197	0	ENST00000275605.3:c.417T>C	p.Phe139=	p.F139=	ENST00000275605	NM_004577.3	139	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS5522.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTAAAGTA	NONE	.	.	hmmpanther:PTHR10000,hmmpanther:PTHR10000:SF7,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01488,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR00338,Superfamily_domains:SSF56784	.	.	ENSP00000378854	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000395471	Transcript	.	.	ENSG00000146733	9577	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SERB_HUMAN	PSPH	HGNC	C9JEJ7_HUMAN,C9JBI3_HUMAN	.	UPI000013DA6D	SNV	PSPH,synonymous_variant,p.%3D,ENST00000275605,;PSPH,synonymous_variant,p.%3D,ENST00000421626,;PSPH,synonymous_variant,p.%3D,ENST00000395471,;PSPH,downstream_gene_variant,,ENST00000421312,;PSPH,downstream_gene_variant,,ENST00000416592,;PSPH,downstream_gene_variant,,ENST00000419984,;PSPH,downstream_gene_variant,,ENST00000424596,;PSPH,downstream_gene_variant,,ENST00000413218,;PSPH,intron_variant,,ENST00000459834,;PSPH,synonymous_variant,p.%3D,ENST00000437355,;PSPH,downstream_gene_variant,,ENST00000427797,;	1223	197	213	SUCCESS
GNAI1	2770	.	GRCh37	7	79828588	79828588	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	67	0	ENST00000351004.3:c.351C>T	p.Gly117=	p.G117=	ENST00000351004	NM_002069.5	117	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5595.1	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCTTTAT	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF173,Pfam_domain:PF00503,Gene3D:1.10.400.10,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000343027	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000351004	Transcript	.	.	ENSG00000127955	4384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNAI1_HUMAN	GNAI1	HGNC	O43383_HUMAN,C9JPP4_HUMAN,C9JL77_HUMAN,C9J2Z2_HUMAN	.	UPI000000124A	SNV	GNAI1,synonymous_variant,p.%3D,ENST00000457358,;GNAI1,synonymous_variant,p.%3D,ENST00000351004,;GNAI1,synonymous_variant,p.%3D,ENST00000418742,;	724	67	96	SUCCESS
SAMD9	54809	.	GRCh37	7	92734833	92734833	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151163886	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	78	0	ENST00000379958.2:c.578C>T	p.Pro193Leu	p.P193L	ENST00000379958	NM_017654.3	193	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS34680.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCGGATCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	A:0.001	.	ENSP00000369292	A:0	3/3	.	.	.	.	.	.	.	.	rs151163886	3/3	PASS	ENST00000379958	Transcript	.	A:0.0002	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Pro193Leu,ENST00000446617,;SAMD9,missense_variant,p.Pro193Leu,ENST00000379958,;	848	78	87	SUCCESS
CYP11B1	1584	.	GRCh37	8	143957167	143957167	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs563321033	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	6	130	0	ENST00000292427.4:c.1082A>G	p.Glu361Gly	p.E361G	ENST00000292427	NM_000497.3	361	gAg/gGg	0	.	C:0	.	C:0.0029	.	C	E/G	protein_coding	YES	CCDS6392.1	1082	MUTECT|MUSE	.	GCAGCTCGGTG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	C:0	.	ENSP00000292427	C:0	6/9	.	.	.	.	.	.	.	.	rs563321033	6/9	PASS	ENST00000292427	Transcript	1	C:0.0004	ENSG00000160882	2591	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	C:0	tolerated(0.29)	.	C11B1_HUMAN	CYP11B1	HGNC	Q8TE40_HUMAN,Q8TE38_HUMAN	.	UPI000013E0BA	SNV	CYP11B1,missense_variant,p.Glu361Gly,ENST00000517471,;CYP11B1,missense_variant,p.Glu361Gly,ENST00000292427,;CYP11B1,missense_variant,p.Glu432Gly,ENST00000377675,;CYP11B1,missense_variant,p.Glu16Gly,ENST00000519285,;GML,intron_variant,,ENST00000522728,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	1115	130	153	SUCCESS
CCDC166	100130274	.	GRCh37	8	144789899	144789899	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	25	0	ENST00000533508.1:c.327G>A	p.Leu109=	p.L109=	ENST00000533508		109	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55280.1	381	MUTECT|MUSE	.	TCCAACAGCTG	NONE	.	.	Pfam_domain:PF14988,hmmpanther:PTHR14845:SF1,hmmpanther:PTHR14845	.	.	ENSP00000437468	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000542437	Transcript	.	.	ENSG00000255181	41910	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC166_HUMAN	CCDC166	HGNC	.	.	UPI00016623E2	SNV	CCDC166,synonymous_variant,p.%3D,ENST00000533508,;CCDC166,synonymous_variant,p.%3D,ENST00000542437,;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	381	25	44	SUCCESS
XPO7	23039	.	GRCh37	8	21846524	21846524	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	71	0	ENST00000252512.9:c.1798T>G	p.Leu600Val	p.L600V	ENST00000252512	NM_015024.4	600	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS47818.1	1798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTTGAAG	NONE	.	.	hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7	.	.	ENSP00000252512	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000252512	Transcript	.	.	ENSG00000130227	14108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	XPO7_HUMAN	XPO7	HGNC	E5RIW1_HUMAN,B4DSP8_HUMAN	.	UPI0000134559	SNV	XPO7,missense_variant,p.Leu600Val,ENST00000252512,;XPO7,missense_variant,p.Leu609Val,ENST00000434536,;XPO7,missense_variant,p.Leu601Val,ENST00000433566,;XPO7,upstream_gene_variant,,ENST00000517551,;XPO7,non_coding_transcript_exon_variant,,ENST00000518808,;	1898	71	55	SUCCESS
ESRP1	54845	.	GRCh37	8	95686717	95686717	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1254115211	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	18	69	0	ENST00000433389.2:c.1634C>T	p.Pro545Leu	p.P545L	ENST00000433389	NM_001034915.2	545	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47897.1	1634	RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCGCCAT	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Low_complexity_(Seg):seg	.	.	ENSP00000405738	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,missense_variant,p.Pro545Leu,ENST00000454170,;ESRP1,missense_variant,p.Pro545Leu,ENST00000433389,;ESRP1,missense_variant,p.Pro545Leu,ENST00000423620,;ESRP1,missense_variant,p.Pro545Leu,ENST00000358397,;ESRP1,missense_variant,p.Pro411Leu,ENST00000519505,;ESRP1,missense_variant,p.Pro404Leu,ENST00000517610,;	1824	69	102	SUCCESS
STXBP1	6812	.	GRCh37	9	130423380	130423380	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs1554776948	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	50	0	ENST00000373299.1:c.326-1G>T		p.X109_splice	ENST00000373299	NM_001032221.3	109		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6874.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGCTTGT	NONE	.	.	.	.	.	ENSP00000362399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373302	Transcript	.	.	ENSG00000136854	11444	.	.	HIGH	5/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STXB1_HUMAN	STXBP1	HGNC	.	.	UPI0000006C0B	SNV	STXBP1,splice_acceptor_variant,,ENST00000373302,;STXBP1,splice_acceptor_variant,,ENST00000373299,;STXBP1,upstream_gene_variant,,ENST00000496504,;STXBP1,upstream_gene_variant,,ENST00000495829,;	.	50	75	SUCCESS
TEK	7010	.	GRCh37	9	27169531	27169531	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	57	0	ENST00000380036.4:c.532C>G	p.Leu178Val	p.L178V	ENST00000380036	NM_000459.3	178	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS6519.1	532	MUTECT|MUSE	.	TACACCTGCCT	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10	.	.	ENSP00000369375	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.19)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Leu178Val,ENST00000406359,;TEK,missense_variant,p.Leu74Val,ENST00000519097,;TEK,missense_variant,p.Leu31Val,ENST00000519080,;TEK,missense_variant,p.Leu178Val,ENST00000380036,;	974	57	54	SUCCESS
TLR8	51311	.	GRCh37	X	12939521	12939521	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	65	0	ENST00000218032.6:c.2362G>A	p.Asp788Asn	p.D788N	ENST00000218032	NM_138636.4	788	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS14152.1	2362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGATGAA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Gene3D:3.80.10.10,SMART_domains:SM00082	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(1)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Asp806Asn,ENST00000311912,;TLR8,missense_variant,p.Asp788Asn,ENST00000218032,;	2449	65	67	SUCCESS
PPP1R3F	89801	.	GRCh37	X	49137827	49137827	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	19	0	ENST00000055335.6:c.1005-42A>T		p.*335*	ENST00000055335	NM_033215.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCAGGGTA	NONE	.	.	.	.	.	ENSP00000055335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000055335	Transcript	.	.	ENSG00000049769	14944	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3F_HUMAN	PPP1R3F	HGNC	Q0D2I0_HUMAN	.	UPI00001D7BA8	SNV	PPP1R3F,5_prime_UTR_variant,,ENST00000376188,;PPP1R3F,intron_variant,,ENST00000438316,;PPP1R3F,intron_variant,,ENST00000055335,;PPP1R3F,intron_variant,,ENST00000466508,;PPP1R3F,intron_variant,,ENST00000495799,;PPP1R3F,intron_variant,,ENST00000471261,;	.	19	19	SUCCESS
RBM20	282996	.	GRCh37	10	112541079	112541079	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	57	0	ENST00000369519.3:c.712C>T	p.Gln238Ter	p.Q238*	ENST00000369519	NM_001134363.1	238	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS44477.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCAGACA	NONE	.	.	.	.	.	ENSP00000358532	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000369519	Transcript	1	.	ENSG00000203867	27424	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM20_HUMAN	RBM20	HGNC	.	.	UPI00016624E1	SNV	RBM20,stop_gained,p.Gln238Ter,ENST00000369519,;	770	57	39	SUCCESS
TTC40	0	.	GRCh37	10	134713078	134713078	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	69	0	ENST00000368586.5:c.3017T>A	p.Leu1006Gln	p.L1006Q	ENST00000368586	NM_001200049.2	1006	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS58101.1	3017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCAGCTGC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	23/58	.	.	.	.	.	.	.	.	.	23/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Leu1006Gln,ENST00000368582,;TTC40,missense_variant,p.Leu1006Gln,ENST00000368586,;TTC40,non_coding_transcript_exon_variant,,ENST00000486104,;	3118	69	89	SUCCESS
SKIDA1	387640	.	GRCh37	10	21806056	21806056	+	synonymous_variant	Silent	SNP	G	G	A	rs763904059	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	19	0	ENST00000449193.2:c.696C>T	p.Ala232=	p.A232=	ENST00000449193	NM_207371.3	232	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44363.1	696	MUTECT|MUSE	.	GCAGCGGCGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187	.	.	ENSP00000410041	.	4/4	.	.	.	.	.	.	.	.	rs763904059	4/4	PASS	ENST00000449193	Transcript	.	.	ENSG00000180592	32697	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SKIDA1	HGNC	E9PAX1_HUMAN	.	UPI00015386B3	SNV	SKIDA1,synonymous_variant,p.%3D,ENST00000449193,;SKIDA1,intron_variant,,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	2949	19	20	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103026161	103026161	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	26	110	0	ENST00000375735.2:c.3675A>G	p.Leu1225=	p.L1225=	ENST00000375735	NM_001080463.1	1225	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS44717.1	3675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTAGAGAA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08393	.	.	ENSP00000381167	.	25/90	.	.	.	.	.	.	.	.	.	25/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,synonymous_variant,p.%3D,ENST00000398093,;DYNC2H1,synonymous_variant,p.%3D,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	3675	110	125	SUCCESS
MUC2	4583	.	GRCh37	11	1093075	1093075	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1293144079	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	25	0	ENST00000441003.2:c.4894A>G	p.Ile1632Val	p.I1632V	ENST00000441003	NM_002457.2	1632	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	4894	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCATCACC	BUFFER|p.P1629T|c.4885C>A|5,BUFFER|p.P1596T|c.4786C>A|5,BUFFER|p.A1631P|c.4891G>C|6,BUFFER|p.A1598P|c.4792G>C|6	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	30/49	.	.	.	.	.	.	.	.	.	30/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Ile1632Val,ENST00000441003,;MUC2,missense_variant,p.Ile1599Val,ENST00000359061,;MUC2,intron_variant,,ENST00000361558,;MUC2,upstream_gene_variant,,ENST00000333592,;	4921	25	16	SUCCESS
OR4A47	403253	.	GRCh37	11	48510973	48510973	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	77	0	ENST00000446524.1:c.629T>A	p.Leu210Gln	p.L210Q	ENST00000446524	NM_001005512.2	210	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31490.1	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTGCTCT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000412752	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000446524	Transcript	.	.	ENSG00000237388	31266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious_low_confidence(0.01)	.	O4A47_HUMAN	OR4A47	HGNC	.	.	UPI00001971E5	SNV	OR4A47,missense_variant,p.Leu210Gln,ENST00000446524,;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	705	77	81	SUCCESS
OR4D6	219983	.	GRCh37	11	59224678	59224678	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	32	133	0	ENST00000300127.2:c.245T>A	p.Leu82Gln	p.L82Q	ENST00000300127	NM_001004708.1	82	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31562.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTGGTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF300,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000300127	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000300127	Transcript	.	.	ENSG00000166884	15175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR4D6_HUMAN	OR4D6	HGNC	.	.	UPI0000046487	SNV	OR4D6,missense_variant,p.Leu82Gln,ENST00000300127,;	268	133	119	SUCCESS
MAP4K2	5871	.	GRCh37	11	64568236	64568236	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	33	0	ENST00000294066.2:c.725G>T	p.Trp242Leu	p.W242L	ENST00000294066	NM_004579.3	242	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS8082.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCAGCGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	.	.	ENSP00000294066	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,missense_variant,p.Trp242Leu,ENST00000377350,;MAP4K2,missense_variant,p.Trp242Leu,ENST00000294066,;MAP4K2,missense_variant,p.Trp198Leu,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000443283,;MEN1,downstream_gene_variant,,ENST00000394374,;MEN1,downstream_gene_variant,,ENST00000377326,;MEN1,downstream_gene_variant,,ENST00000394376,;MEN1,downstream_gene_variant,,ENST00000377316,;MEN1,downstream_gene_variant,,ENST00000315422,;MEN1,downstream_gene_variant,,ENST00000312049,;MEN1,downstream_gene_variant,,ENST00000377321,;MEN1,downstream_gene_variant,,ENST00000377313,;MEN1,downstream_gene_variant,,ENST00000337652,;MAP4K2,splice_region_variant,,ENST00000493428,;MAP4K2,splice_region_variant,,ENST00000482314,;MAP4K2,splice_region_variant,,ENST00000468062,;MEN1,downstream_gene_variant,,ENST00000478548,;MEN1,downstream_gene_variant,,ENST00000487019,;MAP4K2,splice_region_variant,,ENST00000435926,;MAP4K2,splice_region_variant,,ENST00000433890,;MAP4K2,upstream_gene_variant,,ENST00000424945,;MAP4K2,upstream_gene_variant,,ENST00000467689,;MAP4K2,downstream_gene_variant,,ENST00000444560,;MAP4K2,upstream_gene_variant,,ENST00000489952,;MAP4K2,upstream_gene_variant,,ENST00000470088,;	817	33	35	SUCCESS
OVOL1	5017	.	GRCh37	11	65562094	65562094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	72	0	ENST00000335987.3:c.404G>A	p.Arg135His	p.R135H	ENST00000335987	NM_004561.3	135	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8112.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCGCCACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF131,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337862	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000335987	Transcript	.	.	ENSG00000172818	8525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	OVOL1_HUMAN	OVOL1	HGNC	G3V1B0_HUMAN	.	UPI00001D70C0	SNV	OVOL1,missense_variant,p.Arg73His,ENST00000532448,;OVOL1,missense_variant,p.Arg135His,ENST00000335987,;OVOL1-AS1,upstream_gene_variant,,ENST00000532454,;OVOL1-AS1,upstream_gene_variant,,ENST00000527453,;OVOL1-AS1,upstream_gene_variant,,ENST00000534178,;RP11-770G2.5,downstream_gene_variant,,ENST00000531155,;OVOL1,downstream_gene_variant,,ENST00000531907,;	756	72	76	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19427544	19427545	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1565550899	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	119	33	130	0	ENST00000299275.6:c.929dup	p.Asn310LysfsTer8	p.N310Kfs*8	ENST00000299275	NM_019012.5	308	caa/cAaa	0	.	.	.	.	.	A	Q/QX	protein_coding	YES	CCDS58213.1	940-941	INDELOCATOR|VARSCANI	.	ACAATCAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752	.	.	ENSP00000404296	.	11/32	.	.	.	.	.	.	.	.	COSM1360581,COSM1360582	11/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	7	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	insertion	PLEKHA5,frameshift_variant,p.Asn202LysfsTer8,ENST00000424268,;PLEKHA5,frameshift_variant,p.Asn310LysfsTer8,ENST00000317589,;PLEKHA5,frameshift_variant,p.Asn202LysfsTer8,ENST00000543806,;PLEKHA5,frameshift_variant,p.Asn316LysfsTer8,ENST00000429027,;PLEKHA5,frameshift_variant,p.Asn310LysfsTer8,ENST00000538714,;PLEKHA5,frameshift_variant,p.Asn68LysfsTer8,ENST00000539256,;PLEKHA5,frameshift_variant,p.Asn202LysfsTer8,ENST00000536974,;PLEKHA5,frameshift_variant,p.Asn310LysfsTer8,ENST00000299275,;PLEKHA5,frameshift_variant,p.Asn310LysfsTer8,ENST00000355397,;PLEKHA5,frameshift_variant,p.Asn310LysfsTer8,ENST00000309364,;PLEKHA5,frameshift_variant,p.Asn310LysfsTer8,ENST00000359180,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;	972-973	130	152	SUCCESS
ANO6	196527	.	GRCh37	12	45686687	45686687	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	120	0	ENST00000320560.8:c.71-9110T>C		p.*24*	ENST00000320560	NM_001025356.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55819.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTTGTTC	NONE	.	.	.	.	.	ENSP00000409126	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000423947	Transcript	.	.	ENSG00000177119	25240	.	.	MODIFIER	2/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO6_HUMAN	ANO6	HGNC	.	.	UPI000022935A	SNV	ANO6,5_prime_UTR_variant,,ENST00000441606,;ANO6,intron_variant,,ENST00000320560,;ANO6,intron_variant,,ENST00000423947,;ANO6,intron_variant,,ENST00000435642,;ANO6,intron_variant,,ENST00000425752,;ANO6,intron_variant,,ENST00000426898,;ANO6,intron_variant,,ENST00000550630,;	.	120	97	SUCCESS
ARID2	196528	.	GRCh37	12	46231303	46231303	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	99	0	ENST00000334344.6:c.1143T>G	p.Leu381=	p.L381=	ENST00000334344	NM_152641.2	381	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS31783.1	1143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTTGCAA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Superfamily_domains:SSF48371	.	.	ENSP00000335044	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,synonymous_variant,p.%3D,ENST00000334344,;ARID2,synonymous_variant,p.%3D,ENST00000444670,;ARID2,synonymous_variant,p.%3D,ENST00000422737,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,non_coding_transcript_exon_variant,,ENST00000480128,;	1315	99	107	SUCCESS
COL2A1	1280	.	GRCh37	12	48376330	48376330	+	synonymous_variant	Silent	SNP	A	A	C	rs745541421	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	84	0	ENST00000380518.3:c.2256T>G	p.Pro752=	p.P752=	ENST00000380518	NM_033150.2	752	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS41778.1	2256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCAGGCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Pfam_domain:PF01391	.	.	ENSP00000369889	.	34/54	.	.	.	.	.	.	.	.	rs745541421	34/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,synonymous_variant,p.%3D,ENST00000380518,;COL2A1,synonymous_variant,p.%3D,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,non_coding_transcript_exon_variant,,ENST00000483376,;	2421	84	59	SUCCESS
PRKAG1	5571	.	GRCh37	12	49412616	49412616	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs376441054	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	47	0	ENST00000548065.1:c.-93G>A		p.*31*	ENST00000548065				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55825.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCACGTC	NONE	.	54	.	.	.	ENSP00000323867	.	.	.	.	.	.	.	.	.	.	rs376441054	.	PASS	ENST00000316299	Transcript	.	.	ENSG00000181929	9385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AAKG1_HUMAN	PRKAG1	HGNC	F8W9D1_HUMAN,F8VYZ8_HUMAN,F8VPF5_HUMAN	.	UPI000007202F	SNV	PRKAG1,5_prime_UTR_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000548950,;KMT2D,downstream_gene_variant,,ENST00000301067,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000552212,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000316299,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000395170,;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000547125,;KMT2D,downstream_gene_variant,,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000551696,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547866,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;PRKAG1,upstream_gene_variant,,ENST00000552657,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000546531,;	.	47	63	SUCCESS
CS	1431	.	GRCh37	12	56669864	56669864	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	118	0	ENST00000351328.3:c.704A>G	p.Asp235Gly	p.D235G	ENST00000351328	NM_004077.2	235	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS8913.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGTCCAGG	NONE	.	.	hmmpanther:PTHR11739,hmmpanther:PTHR11739:SF8,Gene3D:1.10.580.10,Pfam_domain:PF00285,TIGRFAM_domain:TIGR01793,Superfamily_domains:SSF48256	.	.	ENSP00000342056	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000351328	Transcript	.	.	ENSG00000062485	2422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	CISY_HUMAN	CS	HGNC	Q0QEL2_HUMAN,F8W642_HUMAN,F8W4S1_HUMAN,F8VZK9_HUMAN,F8VX68_HUMAN,F8VX07_HUMAN,F8VRP1_HUMAN,F8VPF9_HUMAN,F8VPA1_HUMAN	.	UPI00000700D6	SNV	CS,missense_variant,p.Asp169Gly,ENST00000548567,;CS,missense_variant,p.Asp235Gly,ENST00000351328,;CS,missense_variant,p.Asp222Gly,ENST00000542324,;CS,downstream_gene_variant,,ENST00000551253,;CS,downstream_gene_variant,,ENST00000551936,;CS,upstream_gene_variant,,ENST00000548746,;CS,downstream_gene_variant,,ENST00000548041,;CS,downstream_gene_variant,,ENST00000550734,;CS,downstream_gene_variant,,ENST00000546930,;CS,downstream_gene_variant,,ENST00000549221,;CS,missense_variant,p.Thr182Ala,ENST00000546891,;CS,3_prime_UTR_variant,,ENST00000548849,;CS,3_prime_UTR_variant,,ENST00000549143,;CS,non_coding_transcript_exon_variant,,ENST00000552331,;CS,non_coding_transcript_exon_variant,,ENST00000546621,;CS,upstream_gene_variant,,ENST00000546585,;	895	118	97	SUCCESS
METAP2	10988	.	GRCh37	12	95867960	95867960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	29	135	0	ENST00000323666.5:c.5C>T	p.Ala2Val	p.A2V	ENST00000323666	NM_006838.3	2	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9052.1	5	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCGGGTG	BUFFER|p.G3G|c.9T>G|3	.	.	.	.	.	ENSP00000325312	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000323666	Transcript	.	.	ENSG00000111142	16672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	deleterious_low_confidence(0)	.	MAP2_HUMAN	METAP2	HGNC	.	.	UPI000004493E	SNV	METAP2,missense_variant,p.Ala2Val,ENST00000261220,;METAP2,missense_variant,p.Ala2Val,ENST00000323666,;METAP2,missense_variant,p.Ala2Val,ENST00000551840,;METAP2,missense_variant,p.Ala2Val,ENST00000550777,;METAP2,missense_variant,p.Ala2Val,ENST00000553151,;METAP2,missense_variant,p.Ala2Val,ENST00000549502,;METAP2,missense_variant,p.Ala2Val,ENST00000546753,;METAP2,missense_variant,p.Ala2Val,ENST00000535095,;METAP2,upstream_gene_variant,,ENST00000549136,;	234	135	147	SUCCESS
NBEA	26960	.	GRCh37	13	36220056	36220056	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	37	191	0	ENST00000400445.3:c.7618-340G>T		p.*2540*	ENST00000400445	NM_015678.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45026.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAGGACTT	NONE	.	.	.	.	.	ENSP00000383295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODIFIER	49/57	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Lys113Asn,ENST00000379922,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000537702,;NBEA,intron_variant,,ENST00000379939,;	.	191	187	SUCCESS
ZC3H13	23091	.	GRCh37	13	46563046	46563046	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	119	0	ENST00000242848.4:c.1131T>C	p.His377=	p.H377=	ENST00000242848		377	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS9400.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAATGTGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000282007	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000282007	Transcript	.	.	ENSG00000123200	20368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3HD_HUMAN	ZC3H13	HGNC	.	.	UPI0000366969	SNV	ZC3H13,synonymous_variant,p.%3D,ENST00000242848,;ZC3H13,synonymous_variant,p.%3D,ENST00000282007,;	1202	119	93	SUCCESS
ARG2	384	.	GRCh37	14	68112357	68112357	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	34	0	ENST00000261783.3:c.363-3C>A		p.X121_splice	ENST00000261783	NM_001172.3	121		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9785.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCAGCCT	NONE	.	.	.	.	.	ENSP00000261783	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261783	Transcript	.	.	ENSG00000081181	664	.	.	LOW	3/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARGI2_HUMAN	ARG2	HGNC	.	.	UPI0000125DF2	SNV	ARG2,splice_region_variant,,ENST00000261783,;VTI1B,downstream_gene_variant,,ENST00000554659,;ARG2,intron_variant,,ENST00000556491,;ARG2,splice_region_variant,,ENST00000557120,;ARG2,upstream_gene_variant,,ENST00000557319,;	.	34	34	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77493770	77493770	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	21	0	ENST00000238647.3:c.366G>A	p.Gln122=	p.Q122=	ENST00000238647	NM_024496.3	122	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9854.1	366	SOMATICSNIPER|VARSCANS	.	TGCTGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF14,hmmpanther:PTHR10816	.	.	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,synonymous_variant,p.%3D,ENST00000238647,;	1265	21	26	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77493785	77493785	+	synonymous_variant	Silent	SNP	C	C	T	rs765159340	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	22	0	ENST00000238647.3:c.351G>A	p.Gln117=	p.Q117=	ENST00000238647	NM_024496.3	117	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9854.1	351	MUSE|VARSCANS	.	TGCTGCTGCTG	BUFFER|p.Q116Q|c.348G>A|7	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF14,hmmpanther:PTHR10816	.	.	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	rs765159340	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,synonymous_variant,p.%3D,ENST00000238647,;	1250	22	25	SUCCESS
BCL11B	64919	.	GRCh37	14	99640931	99640931	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	24	0	ENST00000357195.3:c.2242G>A	p.Gly748Ser	p.G748S	ENST00000357195	NM_138576.2	748	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS9950.1	2242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGTTCT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	COSM1737251	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.024)	.	deleterious(0.03)	1	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,missense_variant,p.Gly554Ser,ENST00000443726,;BCL11B,missense_variant,p.Gly677Ser,ENST00000345514,;BCL11B,missense_variant,p.Gly748Ser,ENST00000357195,;	2252	24	24	SUCCESS
CHRNA7	1139	.	GRCh37	15	32450760	32450760	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	42	278	0	ENST00000306901.3:c.746T>A	p.Leu249Gln	p.L249Q	ENST00000306901	NM_000746.5	249	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS53924.1	833	RADIA|MUSE|VARSCANS	.	CGCCCTGCTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:SSF90112,Gene3D:1.20.120.370,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	.	.	ENSP00000407546	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000454250	Transcript	1	.	ENSG00000175344	1960	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,missense_variant,p.Leu278Gln,ENST00000454250,;CHRNA7,missense_variant,p.Leu68Gln,ENST00000455693,;CHRNA7,missense_variant,p.Leu249Gln,ENST00000306901,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;	940	279	233	SUCCESS
EIF3J	8669	.	GRCh37	15	44852441	44852460	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTTAAGTGGAAATTGATGAC	TTTAAGTGGAAATTGATGAC	-	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	TTTAAGTGGAAATTGATGAC	TTTAAGTGGAAATTGATGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	50	0	ENST00000261868.5:c.572-4_587del		p.X191_splice	ENST00000261868	NM_003758.2	191		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10111.1	?-585	INDELOCATOR*|PINDEL	.	TTTTTTTTTAAGTGGAAATTGATGACTTGAA	NONE	.	.	.	.	.	ENSP00000261868	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000261868	Transcript	.	.	ENSG00000104131	3270	2	.	HIGH	6/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3J_HUMAN	EIF3J	HGNC	.	.	UPI000012D2F9	deletion	EIF3J,splice_acceptor_variant,,ENST00000261868,;EIF3J,splice_acceptor_variant,,ENST00000535391,;EIF3J,splice_acceptor_variant,,ENST00000536248,;EIF3J,splice_acceptor_variant,,ENST00000424492,;SPG11,downstream_gene_variant,,ENST00000535302,;SPG11,downstream_gene_variant,,ENST00000559511,;SPG11,downstream_gene_variant,,ENST00000558138,;SPG11,downstream_gene_variant,,ENST00000261866,;SPG11,downstream_gene_variant,,ENST00000427534,;RP11-151N17.1,downstream_gene_variant,,ENST00000558006,;EIF3J,splice_acceptor_variant,,ENST00000558353,;SPG11,downstream_gene_variant,,ENST00000560299,;EIF3J,downstream_gene_variant,,ENST00000558053,;	?-723	50	47	SUCCESS
FURIN	5045	.	GRCh37	15	91423406	91423406	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs962905822	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	98	0	ENST00000268171.3:c.1459G>A	p.Ala487Thr	p.A487T	ENST00000268171	NM_002569.2	487	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10364.1	1459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGCTCAG	NONE	.	.	Superfamily_domains:SSF49785,Gene3D:2.60.120.260,Pfam_domain:PF01483,hmmpanther:PTHR10795:SF325,hmmpanther:PTHR10795	.	.	ENSP00000268171	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	deleterious(0)	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,missense_variant,p.Ala487Thr,ENST00000268171,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000559355,;FES,upstream_gene_variant,,ENST00000450438,;FES,upstream_gene_variant,,ENST00000394300,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000444422,;FES,upstream_gene_variant,,ENST00000328850,;FURIN,downstream_gene_variant,,ENST00000559353,;FURIN,intron_variant,,ENST00000558794,;FURIN,downstream_gene_variant,,ENST00000560018,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	1738	98	74	SUCCESS
KIAA0556	0	.	GRCh37	16	27709794	27709794	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	68	0	ENST00000261588.4:c.1086G>A	p.Lys362=	p.K362=	ENST00000261588	NM_015202.2	362	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS32415.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGGCCGA	NONE	.	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534	.	.	ENSP00000261588	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,synonymous_variant,p.%3D,ENST00000261588,;CTD-2049O4.1,intron_variant,,ENST00000564893,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000567894,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;KIAA0556,upstream_gene_variant,,ENST00000562207,;	1105	68	58	SUCCESS
SF3B3	23450	.	GRCh37	16	70605100	70605100	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	63	0	ENST00000302516.5:c.3511A>T	p.Lys1171Ter	p.K1171*	ENST00000302516	NM_012426.4	1171	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS10894.1	3511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGAAGGTA	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Pfam_domain:PF03178	.	.	ENSP00000305790	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,stop_gained,p.Lys1171Ter,ENST00000302516,;SF3B3,splice_region_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000563739,;	3722	63	62	SUCCESS
ERBB2	2064	.	GRCh37	17	37876052	37876052	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	40	90	0	ENST00000269571.5:c.1911G>A	p.Leu637=	p.L637=	ENST00000269571		637	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32642.1	1911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGGATGA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF137,Gene3D:2.10.220.10,Pfam_domain:PF14843,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184	.	.	ENSP00000269571	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000269571	Transcript	.	.	ENSG00000141736	3430	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERBB2_HUMAN	ERBB2	HGNC	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN	.	UPI000003F55F	SNV	ERBB2,synonymous_variant,p.%3D,ENST00000584450,;ERBB2,synonymous_variant,p.%3D,ENST00000582818,;ERBB2,synonymous_variant,p.%3D,ENST00000541774,;ERBB2,synonymous_variant,p.%3D,ENST00000445658,;ERBB2,synonymous_variant,p.%3D,ENST00000269571,;ERBB2,synonymous_variant,p.%3D,ENST00000406381,;ERBB2,synonymous_variant,p.%3D,ENST00000540147,;ERBB2,synonymous_variant,p.%3D,ENST00000584601,;ERBB2,intron_variant,,ENST00000580074,;ERBB2,downstream_gene_variant,,ENST00000540042,;ERBB2,downstream_gene_variant,,ENST00000578502,;ERBB2,downstream_gene_variant,,ENST00000578199,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000584684,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;ERBB2,non_coding_transcript_exon_variant,,ENST00000578630,;ERBB2,downstream_gene_variant,,ENST00000582648,;ERBB2,downstream_gene_variant,,ENST00000582788,;	2070	90	164	SUCCESS
RAB5C	5878	.	GRCh37	17	40277843	40277843	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	42	0	ENST00000346213.4:c.609G>A	p.Gln203=	p.Q203=	ENST00000346213	NM_004583.3	203	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS58551.1	708	MUTECT|MUSE|VARSCANS	.	TTCTCCTGGAG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF366,hmmpanther:PTHR24073,Gene3D:3.40.50.300,SMART_domains:SM00176	.	.	ENSP00000447053	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000547517	Transcript	.	.	ENSG00000108774	9785	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB5C_HUMAN	RAB5C	HGNC	K7EIP6_HUMAN,F8VWU4_HUMAN,F8VVK3_HUMAN,F8VSF8_HUMAN	.	UPI00018926DE	SNV	RAB5C,synonymous_variant,p.%3D,ENST00000346213,;RAB5C,synonymous_variant,p.%3D,ENST00000547517,;RAB5C,synonymous_variant,p.%3D,ENST00000393860,;CTD-2132N18.3,intron_variant,,ENST00000592574,;HSPB9,downstream_gene_variant,,ENST00000355067,;KAT2A,upstream_gene_variant,,ENST00000225916,;RAB5C,downstream_gene_variant,,ENST00000552162,;RAB5C,downstream_gene_variant,,ENST00000550406,;RAB5C,downstream_gene_variant,,ENST00000551338,;RAB5C,downstream_gene_variant,,ENST00000550504,;CTD-2132N18.3,synonymous_variant,p.%3D,ENST00000585562,;CTD-2132N18.3,intron_variant,,ENST00000592248,;RAB5C,downstream_gene_variant,,ENST00000550013,;RAB5C,downstream_gene_variant,,ENST00000546881,;KAT2A,upstream_gene_variant,,ENST00000465682,;	1009	42	40	SUCCESS
NGFR	4804	.	GRCh37	17	47590143	47590143	+	synonymous_variant	Silent	SNP	C	C	T	rs776893078	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	6	160	0	ENST00000172229.3:c.1056C>T	p.Asn352=	p.N352=	ENST00000172229	NM_002507.3	352	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS11549.1	1056	MUTECT|MUSE	.	CTCAACGGCTC	NONE	byFrequency	.	PROSITE_profiles:PS50017,hmmpanther:PTHR23097:SF13,hmmpanther:PTHR23097,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986	.	.	ENSP00000172229	.	6/6	.	.	.	.	.	.	.	.	rs776893078	6/6	PASS	ENST00000172229	Transcript	.	.	ENSG00000064300	7809	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNR16_HUMAN	NGFR	HGNC	B4E096_HUMAN	.	UPI0000049854	SNV	NGFR,synonymous_variant,p.%3D,ENST00000172229,;NGFR,synonymous_variant,p.%3D,ENST00000504201,;RP5-1029K10.2,intron_variant,,ENST00000514506,;	1181	160	157	SUCCESS
BRSK1	84446	.	GRCh37	19	55814112	55814112	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1405017626	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	37	175	0	ENST00000309383.1:c.905G>A	p.Arg302His	p.R302H	ENST00000309383	NM_032430.1	302	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12921.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGCCGGG	BUFFER|p.R303W|c.907C>T|5,BUFFER|p.R303W|c.907C>T|6	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130	.	.	ENSP00000310649	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	deleterious(0.03)	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,missense_variant,p.Arg302His,ENST00000585418,;BRSK1,missense_variant,p.Arg302His,ENST00000309383,;BRSK1,missense_variant,p.Arg318His,ENST00000590333,;BRSK1,5_prime_UTR_variant,,ENST00000326848,;BRSK1,5_prime_UTR_variant,,ENST00000591774,;BRSK1,upstream_gene_variant,,ENST00000588584,;BRSK1,upstream_gene_variant,,ENST00000586626,;	1182	176	160	SUCCESS
APH1A	51107	.	GRCh37	1	150238703	150238703	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	15	92	0	ENST00000369109.3:c.734-109C>G		p.*245*	ENST00000369109	NM_001077628.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41390.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGATTCA	NONE	.	.	.	.	.	ENSP00000358105	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369109	Transcript	.	.	ENSG00000117362	29509	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APH1A_HUMAN	APH1A	HGNC	.	.	UPI0000073CA3	SNV	APH1A,3_prime_UTR_variant,,ENST00000360244,;APH1A,intron_variant,,ENST00000414276,;APH1A,intron_variant,,ENST00000369109,;APH1A,downstream_gene_variant,,ENST00000236017,;CA14,downstream_gene_variant,,ENST00000607082,;C1orf54,upstream_gene_variant,,ENST00000369102,;CA14,downstream_gene_variant,,ENST00000369111,;snoU13,downstream_gene_variant,,ENST00000458929,;APH1A,downstream_gene_variant,,ENST00000493092,;APH1A,downstream_gene_variant,,ENST00000461320,;APH1A,downstream_gene_variant,,ENST00000486308,;APH1A,downstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000486720,;CA14,downstream_gene_variant,,ENST00000607751,;CA14,downstream_gene_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000483993,;	.	92	109	SUCCESS
APH1A	51107	.	GRCh37	1	150238802	150238802	+	intron_variant	Intron	SNP	A	A	T	rs201197613	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	55	0	ENST00000369109.3:c.733+131T>A		p.*245*	ENST00000369109	NM_001077628.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41390.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAGTGGG	NONE	.	.	.	.	.	ENSP00000358105	.	.	.	.	.	.	.	.	.	.	rs201197613	.	PASS	ENST00000369109	Transcript	.	.	ENSG00000117362	29509	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APH1A_HUMAN	APH1A	HGNC	.	.	UPI0000073CA3	SNV	APH1A,3_prime_UTR_variant,,ENST00000360244,;APH1A,intron_variant,,ENST00000414276,;APH1A,intron_variant,,ENST00000369109,;APH1A,downstream_gene_variant,,ENST00000236017,;CA14,downstream_gene_variant,,ENST00000607082,;C1orf54,upstream_gene_variant,,ENST00000369102,;CA14,downstream_gene_variant,,ENST00000369111,;snoU13,downstream_gene_variant,,ENST00000458929,;APH1A,non_coding_transcript_exon_variant,,ENST00000461320,;APH1A,downstream_gene_variant,,ENST00000493092,;APH1A,downstream_gene_variant,,ENST00000486308,;APH1A,downstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000486720,;CA14,downstream_gene_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000483993,;	.	55	71	SUCCESS
BNIPL	149428	.	GRCh37	1	151019153	151019153	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs773331197	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	89	0	ENST00000368931.3:c.1064G>C	p.Gly355Ala	p.G355A	ENST00000368931	NM_138278.3	355	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS978.2	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGAGGGA	NONE	.	.	hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF13	.	.	ENSP00000357927	.	10/10	.	.	.	.	.	.	.	.	rs773331197	10/10	PASS	ENST00000368931	Transcript	.	.	ENSG00000163141	16976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.26)	.	BNIPL_HUMAN	BNIPL	HGNC	F8W685_HUMAN	.	UPI00001B94EF	SNV	BNIPL,missense_variant,p.Gly355Ala,ENST00000368931,;BNIPL,missense_variant,p.Gly273Ala,ENST00000295294,;BNIPL,missense_variant,p.Gly339Ala,ENST00000361277,;CDC42SE1,downstream_gene_variant,,ENST00000357235,;BNIPL,downstream_gene_variant,,ENST00000392802,;C1orf56,upstream_gene_variant,,ENST00000368926,;CDC42SE1,downstream_gene_variant,,ENST00000540998,;CDC42SE1,downstream_gene_variant,,ENST00000439374,;BNIPL,downstream_gene_variant,,ENST00000491386,;C1orf56,upstream_gene_variant,,ENST00000465135,;C1orf56,upstream_gene_variant,,ENST00000473308,;BNIPL,3_prime_UTR_variant,,ENST00000485855,;	1220	89	101	SUCCESS
RFX5	5993	.	GRCh37	1	151316709	151316709	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	44	193	0	ENST00000290524.4:c.519A>T	p.Pro173=	p.P173=	ENST00000290524	NM_000449.3	173	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS994.1	519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGTGGCAT	NONE	.	.	hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF18	.	.	ENSP00000290524	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000290524	Transcript	.	.	ENSG00000143390	9986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFX5_HUMAN	RFX5	HGNC	Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN	.	UPI0000000E8B	SNV	RFX5,synonymous_variant,p.%3D,ENST00000392746,;RFX5,synonymous_variant,p.%3D,ENST00000450506,;RFX5,synonymous_variant,p.%3D,ENST00000452513,;RFX5,synonymous_variant,p.%3D,ENST00000452671,;RFX5,synonymous_variant,p.%3D,ENST00000436637,;RFX5,synonymous_variant,p.%3D,ENST00000368870,;RFX5,synonymous_variant,p.%3D,ENST00000290524,;RFX5,synonymous_variant,p.%3D,ENST00000422595,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000458484,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000436271,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,non_coding_transcript_exon_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000469513,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000494217,;	698	194	223	SUCCESS
ILDR2	387597	.	GRCh37	1	166944511	166944511	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	61	0	ENST00000271417.3:c.-6G>C		p.*2*	ENST00000271417	NM_199351.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1256.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCCAACT	NONE	.	.	.	.	.	ENSP00000271417	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000271417	Transcript	.	.	ENSG00000143195	18131	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ILDR2_HUMAN	ILDR2	HGNC	.	.	UPI00002317DF	SNV	ILDR2,5_prime_UTR_variant,,ENST00000526687,;ILDR2,5_prime_UTR_variant,,ENST00000529387,;ILDR2,5_prime_UTR_variant,,ENST00000271417,;ILDR2,5_prime_UTR_variant,,ENST00000469934,;ILDR2,5_prime_UTR_variant,,ENST00000525740,;ILDR2,5_prime_UTR_variant,,ENST00000529071,;ILDR2,5_prime_UTR_variant,,ENST00000528703,;	51	61	101	SUCCESS
RCSD1	92241	.	GRCh37	1	167666369	167666369	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773585787	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	26	124	0	ENST00000367854.3:c.508C>A	p.Pro170Thr	p.P170T	ENST00000367854	NM_052862.3	170	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS1263.1	508	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCCCTCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2,Pfam_domain:PF15255	.	.	ENSP00000356828	.	6/7	.	.	.	.	.	.	.	.	rs773585787	6/7	PASS	ENST00000367854	Transcript	.	.	ENSG00000198771	28310	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CPZIP_HUMAN	RCSD1	HGNC	.	.	UPI0000204CFA	SNV	RCSD1,missense_variant,p.Pro140Thr,ENST00000537350,;RCSD1,missense_variant,p.Pro170Thr,ENST00000367854,;RCSD1,missense_variant,p.Pro146Thr,ENST00000361496,;	839	125	146	SUCCESS
COL16A1	1307	.	GRCh37	1	32131190	32131190	+	synonymous_variant	Silent	SNP	G	G	A	rs1427003784	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	44	0	ENST00000373672.3:c.3486C>T	p.Gly1162=	p.G1162=	ENST00000373672	NM_001856.3	1162	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41297.1	3486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGCCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	55/71	.	.	.	.	.	.	.	.	.	55/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,synonymous_variant,p.%3D,ENST00000373672,;COL16A1,synonymous_variant,p.%3D,ENST00000271069,;COL16A1,synonymous_variant,p.%3D,ENST00000440437,;COL16A1,downstream_gene_variant,,ENST00000468459,;COL16A1,upstream_gene_variant,,ENST00000466829,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000482910,;COL16A1,non_coding_transcript_exon_variant,,ENST00000470799,;COL16A1,upstream_gene_variant,,ENST00000488897,;COL16A1,downstream_gene_variant,,ENST00000479100,;	4003	44	49	SUCCESS
RBBP4	5928	.	GRCh37	1	33134435	33134435	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	72	0	ENST00000373493.5:c.580C>T	p.Leu194Phe	p.L194F	ENST00000373493	NM_005610.2	194	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS366.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACTTAGT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF90,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000362592	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000373493	Transcript	.	.	ENSG00000162521	9887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	RBBP4_HUMAN	RBBP4	HGNC	H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN	.	UPI000013318C	SNV	RBBP4,missense_variant,p.Leu194Phe,ENST00000373485,;RBBP4,missense_variant,p.Leu193Phe,ENST00000414241,;RBBP4,missense_variant,p.Leu194Phe,ENST00000373493,;RBBP4,missense_variant,p.Leu159Phe,ENST00000458695,;RBBP4,5_prime_UTR_variant,,ENST00000544435,;RBBP4,intron_variant,,ENST00000475321,;RBBP4,upstream_gene_variant,,ENST00000482190,;RBBP4,downstream_gene_variant,,ENST00000445722,;RBBP4,upstream_gene_variant,,ENST00000463378,;RBBP4,non_coding_transcript_exon_variant,,ENST00000524393,;RBBP4,missense_variant,p.Thr87Ile,ENST00000526193,;RBBP4,missense_variant,p.Thr87Ile,ENST00000492348,;RBBP4,3_prime_UTR_variant,,ENST00000527118,;RBBP4,non_coding_transcript_exon_variant,,ENST00000531983,;RBBP4,downstream_gene_variant,,ENST00000401893,;RBBP4,downstream_gene_variant,,ENST00000477563,;RBBP4,upstream_gene_variant,,ENST00000460669,;	739	72	75	SUCCESS
ASB17	127247	.	GRCh37	1	76397785	76397785	+	synonymous_variant	Silent	SNP	G	G	A	rs534539433	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	17	166	0	ENST00000284142.6:c.192C>T	p.Asp64=	p.D64=	ENST00000284142	NM_080868.2	64	gaC/gaT	0	.	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS671.1	192	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGTCAAA	NONE	by1000G	.	hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2	A:0.001	.	ENSP00000284142	A:0	1/3	.	.	.	.	.	.	.	.	rs534539433,COSM1245533	1/3	PASS	ENST00000284142	Transcript	.	A:0.0002	ENSG00000154007	19769	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0	.	0,1	ASB17_HUMAN	ASB17	HGNC	.	.	UPI0000073CD7	SNV	ASB17,synonymous_variant,p.%3D,ENST00000284142,;	332	166	138	SUCCESS
RPL5	6125	.	GRCh37	1	93299205	93299205	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	61	0	ENST00000370321.3:c.177T>A	p.Asp59Glu	p.D59E	ENST00000370321	NM_000969.3	59	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS741.1	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATATCAT	BUFFER|p.N57fs*12|c.166_169delACAA|3	.	.	Prints_domain:PR00058,Superfamily_domains:SSF53137,Gene3D:3.30.420.100,Pfam_domain:PF00861,hmmpanther:PTHR23410,HAMAP:MF_01337_A	.	.	ENSP00000359345	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000370321	Transcript	.	.	ENSG00000122406	10360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.02)	.	RL5_HUMAN	RPL5	HGNC	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN	.	UPI00000702C9	SNV	RPL5,missense_variant,p.Asp59Glu,ENST00000370321,;RPL5,missense_variant,p.Asp9Glu,ENST00000315741,;SNORA66,upstream_gene_variant,,ENST00000515986,;SNORD21,upstream_gene_variant,,ENST00000383953,;RPL5,missense_variant,p.Asp59Glu,ENST00000470843,;RPL5,non_coding_transcript_exon_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	267	61	47	SUCCESS
RIN2	54453	.	GRCh37	20	19955803	19955803	+	synonymous_variant	Silent	SNP	C	C	T	rs370646119	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	582	42	670	0	ENST00000255006.6:c.1281C>T	p.Ser427=	p.S427=	ENST00000255006	NM_018993.3	427	agC/agT	0	T:0.0005	.	.	.	.	T	S	protein_coding	YES	CCDS56182.1	1281	MUTECT|MUSE	.	TTGAGCGGCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF51	.	T:0	ENSP00000255006	.	8/12	.	.	.	.	.	.	.	.	rs370646119	8/12	PASS	ENST00000255006	Transcript	1	.	ENSG00000132669	18750	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIN2_HUMAN	RIN2	HGNC	.	.	UPI00004709D0	SNV	RIN2,synonymous_variant,p.%3D,ENST00000255006,;RIN2,intron_variant,,ENST00000440354,;RIN2,non_coding_transcript_exon_variant,,ENST00000484638,;RIN2,downstream_gene_variant,,ENST00000467569,;	1430	670	625	SUCCESS
PCIF1	63935	.	GRCh37	20	44571777	44571777	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	58	0	ENST00000372409.3:c.715G>T	p.Glu239Ter	p.E239*	ENST00000372409	NM_022104.3	239	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13388.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGAGCGC	NONE	.	.	hmmpanther:PTHR21727	.	.	ENSP00000361486	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000372409	Transcript	.	.	ENSG00000100982	16200	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCIF1_HUMAN	PCIF1	HGNC	.	.	UPI000000D717	SNV	PCIF1,stop_gained,p.Glu239Ter,ENST00000372409,;PCIF1,upstream_gene_variant,,ENST00000479348,;	1079	58	46	SUCCESS
ZBTB46	140685	.	GRCh37	20	62421975	62421975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	29	0	ENST00000245663.4:c.136A>G	p.Lys46Glu	p.K46E	ENST00000245663	NM_025224.3	46	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS13538.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTGTGCG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000245663	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000245663	Transcript	.	.	ENSG00000130584	16094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.689)	.	deleterious(0)	.	ZBT46_HUMAN	ZBTB46	HGNC	.	.	UPI0000206406	SNV	ZBTB46,missense_variant,p.Lys46Glu,ENST00000302995,;ZBTB46,missense_variant,p.Lys46Glu,ENST00000395104,;ZBTB46,missense_variant,p.Lys46Glu,ENST00000245663,;ZBTB46,upstream_gene_variant,,ENST00000480766,;	287	29	37	SUCCESS
RWDD2B	10069	.	GRCh37	21	30380106	30380106	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	47	0	ENST00000493196.1:c.701G>C	p.Ser234Thr	p.S234T	ENST00000493196	NM_016940.2	234	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS13582.1	701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACTTTGT	NONE	.	.	hmmpanther:PTHR15955:SF3,hmmpanther:PTHR15955,Pfam_domain:PF06544,PIRSF_domain:PIRSF038021	.	.	ENSP00000418693	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000493196	Transcript	.	.	ENSG00000156253	1302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.05)	.	RWD2B_HUMAN	RWDD2B	HGNC	.	.	UPI00000467EE	SNV	RWDD2B,missense_variant,p.Ser234Thr,ENST00000493196,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000286777,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000486719,;RWDD2B,downstream_gene_variant,,ENST00000471269,;RWDD2B,non_coding_transcript_exon_variant,,ENST00000472184,;RWDD2B,downstream_gene_variant,,ENST00000466746,;RWDD2B,downstream_gene_variant,,ENST00000481411,;	802	47	50	SUCCESS
SIM2	6493	.	GRCh37	21	38115858	38115858	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	22	152	0	ENST00000290399.6:c.1167+2T>C		p.X389_splice	ENST00000290399	NM_005069.3	389		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13646.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTAACAC	NONE	.	.	.	.	.	ENSP00000290399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	HIGH	9/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,splice_donor_variant,,ENST00000431229,;SIM2,splice_donor_variant,,ENST00000430056,;SIM2,splice_donor_variant,,ENST00000290399,;SIM2,splice_donor_variant,,ENST00000481185,;	.	152	126	SUCCESS
GNAZ	2781	.	GRCh37	22	23438564	23438564	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	18	0	ENST00000248996.4:c.682C>A	p.Leu228Ile	p.L228I	ENST00000248996	NM_002073.2	228	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS13804.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCTCAGC	NONE	.	.	Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF65,hmmpanther:PTHR10218	.	.	ENSP00000248996	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000248996	Transcript	.	.	ENSG00000128266	4395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	tolerated(0.22)	.	GNAZ_HUMAN	GNAZ	HGNC	.	.	UPI0000001249	SNV	GNAZ,missense_variant,p.Leu228Ile,ENST00000248996,;RTDR1,intron_variant,,ENST00000216036,;GNAZ,downstream_gene_variant,,ENST00000492538,;	1348	18	15	SUCCESS
TEX33	339669	.	GRCh37	22	37395926	37395926	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	49	0	ENST00000381821.1:c.589G>A	p.Asp197Asn	p.D197N	ENST00000381821		197	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS54524.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTCTGAGA	NONE	.	.	hmmpanther:PTHR31702,Pfam_domain:PF15400	.	.	ENSP00000386118	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000405091	Transcript	.	.	ENSG00000185264	28568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.05)	.	TEX33_HUMAN	TEX33	HGNC	.	.	UPI000020767B	SNV	TEX33,missense_variant,p.Asp112Asn,ENST00000402860,;TEX33,missense_variant,p.Asp56Asn,ENST00000442538,;TEX33,missense_variant,p.Asp197Asn,ENST00000405091,;TEX33,missense_variant,p.Asp197Asn,ENST00000381821,;	841	49	41	SUCCESS
SBF1	6305	.	GRCh37	22	50893272	50893272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	60	0	ENST00000380817.3:c.4783A>T	p.Asn1595Tyr	p.N1595Y	ENST00000380817	NM_002972.2	1595	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS14091.2	4783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATTGTGGA	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Superfamily_domains:SSF52799	.	.	ENSP00000370196	.	35/41	.	.	.	.	.	.	.	.	.	35/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,missense_variant,p.Asn129Tyr,ENST00000418590,;SBF1,missense_variant,p.Asn1569Tyr,ENST00000390679,;SBF1,missense_variant,p.Asn1570Tyr,ENST00000348911,;SBF1,missense_variant,p.Asn1595Tyr,ENST00000380817,;SBF1,downstream_gene_variant,,ENST00000476293,;SBF1,non_coding_transcript_exon_variant,,ENST00000470434,;	4967	60	42	SUCCESS
FBLN7	129804	.	GRCh37	2	112922614	112922614	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	97	0	ENST00000331203.2:c.272G>A	p.Arg91Lys	p.R91K	ENST00000331203	NM_001128165.1	91	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS2095.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGAAAGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF17,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000331411	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000331203	Transcript	.	.	ENSG00000144152	26740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.3)	.	FBLN7_HUMAN	FBLN7	HGNC	B3KW35_HUMAN	.	UPI000004E556	SNV	FBLN7,missense_variant,p.Arg91Lys,ENST00000409450,;FBLN7,missense_variant,p.Arg91Lys,ENST00000331203,;FBLN7,missense_variant,p.Arg91Lys,ENST00000409903,;FBLN7,missense_variant,p.Arg91Lys,ENST00000409667,;FBLN7,intron_variant,,ENST00000441565,;FBLN7,non_coding_transcript_exon_variant,,ENST00000472377,;	543	97	79	SUCCESS
NEB	4703	.	GRCh37	2	152426620	152426620	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	56	0	ENST00000172853.10:c.12302del	p.Lys4101ArgfsTer51	p.K4101Rfs*51	ENST00000172853		4101	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS54407.1	17405	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTTCTTGGCC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	109/182	.	.	.	.	.	.	.	.	.	109/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	deletion	NEB,frameshift_variant,p.Lys5802ArgfsTer51,ENST00000603639,;NEB,frameshift_variant,p.Lys4101ArgfsTer51,ENST00000172853,;NEB,frameshift_variant,p.Lys5802ArgfsTer51,ENST00000427231,;NEB,frameshift_variant,p.Lys5802ArgfsTer51,ENST00000397345,;NEB,frameshift_variant,p.Lys5802ArgfsTer51,ENST00000604864,;NEB,frameshift_variant,p.Lys532ArgfsTer51,ENST00000413693,;NEB,frameshift_variant,p.Lys4101ArgfsTer51,ENST00000409198,;	17608	56	70	SUCCESS
BAZ2B	29994	.	GRCh37	2	160269055	160269055	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	72	0	ENST00000392783.2:c.2468G>T	p.Gly823Val	p.G823V	ENST00000392783	NM_013450.2	823	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2209.2	2468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTCCCTTT	NONE	.	.	Superfamily_domains:SSF54171,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144	.	.	ENSP00000376534	.	14/37	.	.	.	.	.	.	.	.	.	14/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Gly789Val,ENST00000355831,;BAZ2B,missense_variant,p.Gly787Val,ENST00000392782,;BAZ2B,missense_variant,p.Gly157Val,ENST00000441143,;BAZ2B,missense_variant,p.Gly723Val,ENST00000343439,;BAZ2B,missense_variant,p.Gly823Val,ENST00000392783,;BAZ2B,splice_region_variant,,ENST00000482501,;BAZ2B,splice_region_variant,,ENST00000472953,;	2964	72	73	SUCCESS
XIRP2	129446	.	GRCh37	2	168103526	168103526	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	48	172	0	ENST00000409195.1:c.5624T>C	p.Leu1875Pro	p.L1875P	ENST00000409195	NM_152381.5	1875	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42769.1	5624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACTTAAAG	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Leu1653Pro,ENST00000409273,;XIRP2,missense_variant,p.Leu1875Pro,ENST00000409195,;XIRP2,missense_variant,p.Leu1875Pro,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	5713	172	178	SUCCESS
USP40	55230	.	GRCh37	2	234402122	234402122	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs368100283	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	32	167	0	ENST00000251722.6:c.2863A>G	p.Thr955Ala	p.T955A	ENST00000251722		955	Acc/Gcc	0	C:0	.	.	.	.	C	T/A	protein_coding	YES	CCDS46547.1	2899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGTCTGGT	NONE	byCluster	.	.	.	C:0.0001	ENSP00000415434	.	24/31	.	.	.	.	.	.	.	.	rs368100283	24/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.78)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.Thr955Ala,ENST00000251722,;USP40,missense_variant,p.Thr131Ala,ENST00000430158,;USP40,missense_variant,p.Thr131Ala,ENST00000409945,;USP40,missense_variant,p.Thr967Ala,ENST00000450966,;USP40,missense_variant,p.Thr955Ala,ENST00000427112,;USP40,upstream_gene_variant,,ENST00000454354,;USP40,upstream_gene_variant,,ENST00000496298,;USP40,missense_variant,p.Thr2Ala,ENST00000450940,;USP40,upstream_gene_variant,,ENST00000473191,;USP40,downstream_gene_variant,,ENST00000483216,;USP40,upstream_gene_variant,,ENST00000483519,;	2899	167	147	SUCCESS
PLB1	151056	.	GRCh37	2	28763246	28763246	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	41	0	ENST00000327757.5:c.712C>T	p.Pro238Ser	p.P238S	ENST00000327757	NM_153021.4	238	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS33168.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCCTGT	NONE	.	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1	.	.	ENSP00000330442	.	12/58	.	.	.	.	.	.	.	.	COSM3723073,COSM3723074	12/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.001)	.	tolerated(0.65)	1,1	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,missense_variant,p.Pro238Ser,ENST00000327757,;PLB1,missense_variant,p.Pro249Ser,ENST00000422425,;PLB1,missense_variant,p.Pro248Ser,ENST00000404858,;PLB1,downstream_gene_variant,,ENST00000416713,;	756	41	32	SUCCESS
FSHR	2492	.	GRCh37	2	49190880	49190880	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	12	130	0	ENST00000406846.2:c.1080G>T	p.Met360Ile	p.M360I	ENST00000406846	NM_000145.3	360	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1843.1	1080	MUTECT|MUSE|VARSCANS	.	TACCCCATGAT	NONE	.	.	hmmpanther:PTHR24372:SF5,hmmpanther:PTHR24372,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00373	.	.	ENSP00000384708	.	10/10	.	.	.	.	.	.	.	.	COSM3582003	10/10	PASS	ENST00000406846	Transcript	.	.	ENSG00000170820	3969	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.729)	.	deleterious(0.03)	1	FSHR_HUMAN	FSHR	HGNC	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN	.	UPI000013E97A	SNV	FSHR,missense_variant,p.Met298Ile,ENST00000346173,;FSHR,missense_variant,p.Met96Ile,ENST00000541117,;FSHR,missense_variant,p.Met334Ile,ENST00000304421,;FSHR,missense_variant,p.Met360Ile,ENST00000406846,;FSHR,downstream_gene_variant,,ENST00000454032,;	1200	130	127	SUCCESS
CAPG	822	.	GRCh37	2	85622730	85622732	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	36	0	ENST00000263867.4:c.910_912del	p.Lys304del	p.K304del	ENST00000263867	NM_001256140.1	304	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS1974.1	910-912	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCTCCTTCTCAT	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF13,Pfam_domain:PF00626,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753	.	.	ENSP00000263867	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000263867	Transcript	.	.	ENSG00000042493	1474	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAPG_HUMAN	CAPG	HGNC	E7ENU9_HUMAN,B8ZZL6_HUMAN,B4DU58_HUMAN	.	UPI000013D47C	deletion	CAPG,inframe_deletion,p.Lys304del,ENST00000263867,;CAPG,inframe_deletion,p.Lys304del,ENST00000409670,;CAPG,inframe_deletion,p.Lys289del,ENST00000409921,;CAPG,inframe_deletion,p.Lys59del,ENST00000453973,;CAPG,inframe_deletion,p.Lys304del,ENST00000409724,;CAPG,downstream_gene_variant,,ENST00000409275,;ELMOD3,downstream_gene_variant,,ENST00000409344,;ELMOD3,downstream_gene_variant,,ENST00000409013,;ELMOD3,downstream_gene_variant,,ENST00000409890,;CAPG,downstream_gene_variant,,ENST00000449030,;CAPG,downstream_gene_variant,,ENST00000439385,;ELMOD3,downstream_gene_variant,,ENST00000315658,;CAPG,downstream_gene_variant,,ENST00000447219,;ELMOD3,downstream_gene_variant,,ENST00000393852,;CAPG,non_coding_transcript_exon_variant,,ENST00000483659,;ELMOD3,downstream_gene_variant,,ENST00000496957,;ELMOD3,downstream_gene_variant,,ENST00000490508,;CAPG,non_coding_transcript_exon_variant,,ENST00000471064,;CAPG,downstream_gene_variant,,ENST00000459793,;ELMOD3,downstream_gene_variant,,ENST00000446464,;ELMOD3,downstream_gene_variant,,ENST00000410106,;ELMOD3,downstream_gene_variant,,ENST00000414593,;ELMOD3,downstream_gene_variant,,ENST00000486908,;ELMOD3,downstream_gene_variant,,ENST00000444108,;ELMOD3,downstream_gene_variant,,ENST00000423095,;	1160-1162	36	43	SUCCESS
ATP2B2	491	.	GRCh37	3	10413576	10413576	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202118324	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	92	0	ENST00000352432.4:c.1576G>A	p.Asp526Asn	p.D526N	ENST00000352432		526	Gac/Aac	0	T:0.0005	T:0	.	T:0	.	T	D/N	protein_coding	YES	CCDS33701.1	1576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTCGGGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01517,Gene3D:3.40.1110.10,Pfam_domain:PF00702,Superfamily_domains:SSF81660	T:0.001	T:0	ENSP00000353414	T:0	12/23	.	.	.	.	.	.	.	.	rs202118324	12/23	PASS	ENST00000360273	Transcript	.	T:0.0002	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	T:0	tolerated(0.31)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Asp512Asn,ENST00000343816,;ATP2B2,missense_variant,p.Asp526Asn,ENST00000360273,;ATP2B2,missense_variant,p.Asp481Asn,ENST00000383800,;ATP2B2,missense_variant,p.Asp526Asn,ENST00000352432,;ATP2B2,missense_variant,p.Asp481Asn,ENST00000397077,;ATP2B2,missense_variant,p.Asp382Asn,ENST00000452124,;ATP2B2,missense_variant,p.Asp481Asn,ENST00000460129,;	2015	92	84	SUCCESS
CCDC54	84692	.	GRCh37	3	107096716	107096716	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	103	0	ENST00000261058.1:c.282C>A	p.Val94=	p.V94=	ENST00000261058	NM_032600.2	94	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2949.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCCAGGA	BUFFER|p.E96K|c.286G>A|3	.	.	.	.	.	ENSP00000261058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000261058	Transcript	.	.	ENSG00000138483	30703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD54_HUMAN	CCDC54	HGNC	.	.	UPI000006EB42	SNV	CCDC54,synonymous_variant,p.%3D,ENST00000261058,;RP11-446H18.5,intron_variant,,ENST00000599431,;RP11-446H18.5,intron_variant,,ENST00000593837,;RP11-446H18.5,downstream_gene_variant,,ENST00000595232,;	529	103	115	SUCCESS
NDUFB4	4710	.	GRCh37	3	120320137	120320137	+	intron_variant	Intron	SNP	G	G	A	rs1487268540	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	37	0	ENST00000184266.2:c.327+33G>A		p.*109*	ENST00000184266	NM_004547.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2999.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGTGATA	NONE	.	.	.	.	.	ENSP00000184266	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000184266	Transcript	.	.	ENSG00000065518	7699	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUB4_HUMAN	NDUFB4	HGNC	.	.	UPI000013C5EA	SNV	NDUFB4,synonymous_variant,p.%3D,ENST00000485064,;NDUFB4,intron_variant,,ENST00000492739,;NDUFB4,intron_variant,,ENST00000184266,;NDUFB4,3_prime_UTR_variant,,ENST00000461682,;NDUFB4,intron_variant,,ENST00000496588,;NDUFB4,intron_variant,,ENST00000491335,;	.	37	31	SUCCESS
GTF2E1	2960	.	GRCh37	3	120489632	120489632	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	39	171	1	ENST00000283875.5:c.506C>A	p.Pro169His	p.P169H	ENST00000283875	NM_005513.2	169	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3002.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCCCAAAA	NONE	.	.	hmmpanther:PTHR13097,hmmpanther:PTHR13097:SF6,Gene3D:3.30.40.10,Pfam_domain:PF08271,SMART_domains:SM00531,Superfamily_domains:SSF57783	.	.	ENSP00000283875	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000283875	Transcript	.	.	ENSG00000153767	4650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	T2EA_HUMAN	GTF2E1	HGNC	Q53F88_HUMAN,Q05DN6_HUMAN,E9PER7_HUMAN,C9J329_HUMAN,C9IYL4_HUMAN	.	UPI000013DD5F	SNV	GTF2E1,missense_variant,p.Pro2His,ENST00000469772,;GTF2E1,missense_variant,p.Pro169His,ENST00000283875,;	599	172	169	SUCCESS
ALG1L	200810	.	GRCh37	3	125648374	125648374	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs200222793	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	28	134	0	ENST00000340333.3:c.385C>G	p.Leu129Val	p.L129V	ENST00000340333	NM_001195223.1	129	Cta/Gta	0	T:0	.	.	.	.	C	L/V	protein_coding	YES	CCDS33840.1	385	RADIA|MUTECT|MUSE	.	GTTTAGCTTGC	NONE	byCluster	.	hmmpanther:PTHR13036:SF0,hmmpanther:PTHR13036	.	T:0.0002	ENSP00000340009	.	6/6	.	.	.	.	.	.	.	.	rs200222793	6/6	PASS	ENST00000340333	Transcript	.	.	ENSG00000189366	33721	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	ALG1L_HUMAN	ALG1L	HGNC	.	.	UPI000020A11A	SNV	ALG1L,missense_variant,p.Leu129Val,ENST00000340333,;FAM86JP,non_coding_transcript_exon_variant,,ENST00000485843,;FAM86JP,non_coding_transcript_exon_variant,,ENST00000467239,;FAM86JP,non_coding_transcript_exon_variant,,ENST00000486431,;FAM86JP,downstream_gene_variant,,ENST00000484500,;	549	134	122	SUCCESS
BAP1	8314	.	GRCh37	3	52436363	52436363	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	48	0	ENST00000460680.1:c.2131A>T	p.Lys711Ter	p.K711*	ENST00000460680	NM_004656.3	711	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2853.1	2131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTTGTGGA	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,stop_gained,p.Lys111Ter,ENST00000469613,;BAP1,stop_gained,p.Lys235Ter,ENST00000478368,;BAP1,stop_gained,p.Lys693Ter,ENST00000296288,;BAP1,stop_gained,p.Lys711Ter,ENST00000460680,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	2603	48	56	SUCCESS
BAP1	8314	.	GRCh37	3	52442612	52442612	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1553646045	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	27	125	0	ENST00000460680.1:c.133G>A	p.Gly45Arg	p.G45R	ENST00000460680	NM_004656.3	45	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2853.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCATATA	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	4/17	.	.	.	.	.	.	.	.	COSM110737	4/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,missense_variant,p.Gly45Arg,ENST00000296288,;BAP1,missense_variant,p.Gly45Arg,ENST00000460680,;BAP1,5_prime_UTR_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000472337,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,intron_variant,,ENST00000490917,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000471532,;	605	125	103	SUCCESS
PET112	0	.	GRCh37	4	152637251	152637251	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749000969	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	21	130	0	ENST00000263985.6:c.673G>A	p.Asp225Asn	p.D225N	ENST00000263985	NM_004564.2	225	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3776.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCGGGCT	NONE	byFrequency	.	HAMAP:MF_00121,hmmpanther:PTHR11659,hmmpanther:PTHR11659:SF0,Pfam_domain:PF02934,TIGRFAM_domain:TIGR00133,Superfamily_domains:SSF55931	.	.	ENSP00000263985	.	5/13	.	.	.	.	.	.	.	.	rs749000969,COSM1052080	5/13	PASS	ENST00000263985	Transcript	.	.	ENSG00000059691	8849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.715)	.	deleterious(0.01)	0,1	GATB_HUMAN	PET112	HGNC	.	.	UPI000012B14C	SNV	PET112,missense_variant,p.Asp225Asn,ENST00000512306,;PET112,missense_variant,p.Asp225Asn,ENST00000263985,;PET112,intron_variant,,ENST00000515812,;PET112,3_prime_UTR_variant,,ENST00000503160,;PET112,non_coding_transcript_exon_variant,,ENST00000505211,;PET112,non_coding_transcript_exon_variant,,ENST00000515490,;PET112,non_coding_transcript_exon_variant,,ENST00000515564,;PET112,intron_variant,,ENST00000511538,;PET112,intron_variant,,ENST00000515884,;	714	130	117	SUCCESS
HTT	3064	.	GRCh37	4	3230458	3230458	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	94	0	ENST00000355072.5:c.7965T>C	p.Ser2655=	p.S2655=	ENST00000355072	NM_002111.6	2655	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43206.1	7965	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCTCCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	58/67	.	.	.	.	.	.	.	.	.	58/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,synonymous_variant,p.%3D,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000512068,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	8110	94	86	SUCCESS
NFXL1	152518	.	GRCh37	4	47850263	47850263	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs565045894	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	62	0	ENST00000507489.1:c.2653C>T	p.Gln885Ter	p.Q885*	ENST00000507489	NM_001278624.1	885	Caa/Taa	0	.	T:0	.	T:0	.	A	Q/*	protein_coding	YES	CCDS3478.2	2653	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGCCATA	NONE	by1000G	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1	T:0	.	ENSP00000422037	T:0	23/23	.	.	.	.	.	.	.	.	rs565045894	23/23	PASS	ENST00000507489	Transcript	.	T:0.0002	ENSG00000170448	18726	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,stop_gained,p.Gln885Ter,ENST00000381538,;NFXL1,stop_gained,p.Gln885Ter,ENST00000507489,;RP11-121C2.2,upstream_gene_variant,,ENST00000563286,;NFXL1,3_prime_UTR_variant,,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000502448,;NFXL1,downstream_gene_variant,,ENST00000511452,;NFXL1,downstream_gene_variant,,ENST00000507131,;NFXL1,downstream_gene_variant,,ENST00000508115,;	2830	62	64	SUCCESS
EVC	2121	.	GRCh37	4	5747031	5747031	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	103	0	ENST00000264956.6:c.902A>G	p.Lys301Arg	p.K301R	ENST00000264956	NM_153717.2	301	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS3383.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAAGAAGG	NONE	.	.	hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	.	.	ENSP00000372120	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000382674	Transcript	1	.	ENSG00000072840	3497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,missense_variant,p.Lys301Arg,ENST00000382674,;EVC,missense_variant,p.Lys301Arg,ENST00000264956,;EVC,missense_variant,p.Lys301Arg,ENST00000509451,;CRMP1,downstream_gene_variant,,ENST00000506216,;	1086	103	103	SUCCESS
GPRIN3	285513	.	GRCh37	4	90170448	90170448	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	61	0	ENST00000333209.4:c.814A>G	p.Ser272Gly	p.S272G	ENST00000333209		272	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS34030.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGCTAGTGA	NONE	.	.	hmmpanther:PTHR15718:SF2,hmmpanther:PTHR15718	.	.	ENSP00000476603	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000609438	Transcript	.	.	ENSG00000185477	27733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.15)	.	.	GPRIN3	HGNC	.	.	UPI00001C1E20	SNV	GPRIN3,missense_variant,p.Ser272Gly,ENST00000609438,;GPRIN3,missense_variant,p.Ser272Gly,ENST00000333209,;	1333	61	51	SUCCESS
SH3PXD2B	285590	.	GRCh37	5	171766054	171766054	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	66	0	ENST00000311601.5:c.2055C>T	p.Gly685=	p.G685=	ENST00000311601	NM_001017995.2	685	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34291.1	2055	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGCCCTC	NONE	.	.	hmmpanther:PTHR15706:SF8,hmmpanther:PTHR15706	.	.	ENSP00000309714	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000311601	Transcript	1	.	ENSG00000174705	29242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPD2B_HUMAN	SH3PXD2B	HGNC	.	.	UPI000020C12E	SNV	SH3PXD2B,synonymous_variant,p.%3D,ENST00000311601,;SH3PXD2B,intron_variant,,ENST00000519643,;SH3PXD2B,intron_variant,,ENST00000518522,;SH3PXD2B,upstream_gene_variant,,ENST00000523651,;	2226	66	88	SUCCESS
GFM2	84340	.	GRCh37	5	74018369	74018369	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	17	99	0	ENST00000296805.3:c.2046T>G	p.Asp682Glu	p.D682E	ENST00000296805	NM_032380.4	682	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS4023.1	2046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTATCAGC	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Pfam_domain:PF03764,Gene3D:3.30.230.10,SMART_domains:SM00889,Superfamily_domains:SSF54211	.	.	ENSP00000296805	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000296805	Transcript	.	.	ENSG00000164347	29682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.1)	.	RRF2M_HUMAN	GFM2	HGNC	D6RF75_HUMAN	.	UPI0000129CA7	SNV	GFM2,missense_variant,p.Asp682Glu,ENST00000296805,;GFM2,missense_variant,p.Asp635Glu,ENST00000345239,;GFM2,missense_variant,p.Asp682Glu,ENST00000509430,;HEXB,downstream_gene_variant,,ENST00000511181,;HEXB,downstream_gene_variant,,ENST00000509579,;HEXB,downstream_gene_variant,,ENST00000261416,;HEXB,downstream_gene_variant,,ENST00000513336,;RNU6-658P,downstream_gene_variant,,ENST00000384606,;GFM2,non_coding_transcript_exon_variant,,ENST00000515125,;GFM2,downstream_gene_variant,,ENST00000514734,;HEXB,downstream_gene_variant,,ENST00000513539,;HEXB,3_prime_UTR_variant,,ENST00000505859,;HEXB,3_prime_UTR_variant,,ENST00000503312,;HEXB,non_coding_transcript_exon_variant,,ENST00000513867,;HEXB,downstream_gene_variant,,ENST00000504459,;	2504	99	104	SUCCESS
RFPL4B	442247	.	GRCh37	6	112670836	112670836	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	39	0	ENST00000441065.2:c.-75C>T		p.*25*	ENST00000441065	NM_001013734.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34515.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCTCCCA	NONE	.	.	.	.	.	ENSP00000423391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441065	Transcript	.	.	ENSG00000251258	33264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFPLB_HUMAN	RFPL4B	HGNC	.	.	UPI00001972F0	SNV	RFPL4B,5_prime_UTR_variant,,ENST00000441065,;RP11-506B6.6,non_coding_transcript_exon_variant,,ENST00000585611,;RP11-506B6.6,non_coding_transcript_exon_variant,,ENST00000590673,;RP11-506B6.6,non_coding_transcript_exon_variant,,ENST00000587816,;RP11-506B6.6,downstream_gene_variant,,ENST00000585504,;	238	39	32	SUCCESS
PRL	5617	.	GRCh37	6	22297382	22297382	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	16	0	ENST00000306482.1:c.-171G>T		p.*57*	ENST00000306482	NM_000948.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4548.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCATAAT	NONE	.	.	.	.	.	ENSP00000302150	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000306482	Transcript	.	.	ENSG00000172179	9445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRL_HUMAN	PRL	HGNC	Q5THQ0_HUMAN,Q5I0G2_HUMAN	.	UPI0000001C13	SNV	PRL,5_prime_UTR_variant,,ENST00000306482,;RP3-404K8.2,intron_variant,,ENST00000561912,;	349	16	22	SUCCESS
HIST1H4C	0	.	GRCh37	6	26104199	26104199	+	synonymous_variant	Silent	SNP	A	A	T	rs763181691	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	69	0	ENST00000377803.2:c.24A>T	p.Gly8=	p.G8=	ENST00000377803	NM_003542.3	8	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4583.1	24	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGAAAAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000367034	.	1/1	.	.	.	.	.	.	.	.	rs763181691	1/1	PASS	ENST00000377803	Transcript	.	.	ENSG00000197061	4787	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H4_HUMAN	HIST1H4C	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4C,synonymous_variant,p.%3D,ENST00000377803,;HIST1H1T,downstream_gene_variant,,ENST00000338379,;	96	69	87	SUCCESS
HIST1H1E	0	.	GRCh37	6	26156767	26156769	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	CCT	CCT	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	65	0	ENST00000304218.3:c.151_153del	p.Ser51del	p.S51del	ENST00000304218	NM_005321.2	50	gCCTcc/gcc	0	.	.	.	.	.	-	AS/A	protein_coding	YES	CCDS4586.1	149-151	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCCGCCTCCAAG	NONE	.	.	PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	deletion	HIST1H1E,inframe_deletion,p.Ser51del,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	209-211	65	78	SUCCESS
DPCR1	0	.	GRCh37	6	30920202	30920202	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751659761	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	84	0	ENST00000462446.1:c.3961C>T	p.Pro1321Ser	p.P1321S	ENST00000462446		1321	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4692.2	3961	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCCTGCA	NONE	byFrequency	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	rs751659761,COSM3624438,COSM3624439,COSM3624437	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	benign(0.016)	.	deleterious(0)	0,1,1,1	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Pro163Ser,ENST00000304311,;DPCR1,missense_variant,p.Pro1321Ser,ENST00000462446,;HCG21,intron_variant,,ENST00000419481,;	3989	84	101	SUCCESS
UBR2	23304	.	GRCh37	6	42637952	42637952	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	24	135	0	ENST00000372899.1:c.4004G>A	p.Ser1335Asn	p.S1335N	ENST00000372899	NM_015255.2	1335	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS4870.1	4004	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTAGCTGCG	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	35/47	.	.	.	.	.	.	.	.	.	35/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.273)	.	deleterious(0)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Ser1335Asn,ENST00000372901,;UBR2,missense_variant,p.Ser1335Asn,ENST00000372899,;UBR2,3_prime_UTR_variant,,ENST00000372883,;	4262	135	187	SUCCESS
KLHL32	114792	.	GRCh37	6	97561870	97561870	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753639648	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	21	142	0	ENST00000369261.4:c.839G>T	p.Arg280Leu	p.R280L	ENST00000369261	NM_052904.3	280	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS5038.1	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCGCAGGA	NONE	byFrequency	.	PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	7/11	.	.	.	.	.	.	.	.	rs753639648	7/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.23)	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,missense_variant,p.Arg211Leu,ENST00000539200,;KLHL32,missense_variant,p.Arg244Leu,ENST00000536676,;KLHL32,missense_variant,p.Arg280Leu,ENST00000369261,;KLHL32,3_prime_UTR_variant,,ENST00000447886,;KLHL32,intron_variant,,ENST00000369254,;KLHL32,intron_variant,,ENST00000544166,;	1202	142	123	SUCCESS
SCIN	85477	.	GRCh37	7	12610443	12610443	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	69	0	ENST00000297029.5:c.31G>T	p.Ala11Ser	p.A11S	ENST00000297029	NM_001112706.2	11	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47545.1	31	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGCCCGG	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,Gene3D:3.40.20.10,Superfamily_domains:SSF55753	.	.	ENSP00000297029	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000297029	Transcript	.	.	ENSG00000006747	21695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.44)	.	ADSV_HUMAN	SCIN	HGNC	Q8NBV9_HUMAN,Q75MG0_HUMAN	.	UPI000013C4DF	SNV	SCIN,missense_variant,p.Ala11Ser,ENST00000417018,;SCIN,missense_variant,p.Ala11Ser,ENST00000297029,;AC005281.2,non_coding_transcript_exon_variant,,ENST00000433040,;SCIN,missense_variant,p.Ala11Ser,ENST00000436854,;SCIN,missense_variant,p.Ala11Ser,ENST00000341757,;	132	69	80	SUCCESS
SP8	221833	.	GRCh37	7	20825271	20825271	+	synonymous_variant	Silent	SNP	C	C	A	rs145875827	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	82	0	ENST00000361443.4:c.111G>T	p.Ser37=	p.S37=	ENST00000361443	NM_198956.2	37	tcG/tcT	0	T:0.0002	.	.	.	.	A	S	protein_coding	YES	CCDS43555.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACGAGGA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134	.	T:0.0003	ENSP00000408792	.	2/2	.	.	.	.	.	.	.	.	rs145875827	2/2	PASS	ENST00000418710	Transcript	.	.	ENSG00000164651	19196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP8_HUMAN	SP8	HGNC	.	.	UPI00001AADF2	SNV	SP8,synonymous_variant,p.%3D,ENST00000418710,;SP8,synonymous_variant,p.%3D,ENST00000361443,;	253	82	68	SUCCESS
ELN	2006	.	GRCh37	7	73452038	73452038	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs376512299	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	74	0	ENST00000358929.4:c.165G>A		p.X55_splice	ENST00000358929	NM_001278939.1	55	gcG/gcA	0	A:0.0007	.	.	.	.	A	A	protein_coding	YES	CCDS5562.2	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCTGGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24018:SF2,hmmpanther:PTHR24018	.	A:0	ENSP00000252034	.	4/33	.	.	.	.	.	.	.	.	rs376512299,COSM166543,COSM3367021	4/33	PASS	ENST00000252034	Transcript	.	.	ENSG00000049540	3327	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ELN_HUMAN	ELN	HGNC	Q9UMK5_HUMAN	.	UPI0000D4A0DC	SNV	ELN,synonymous_variant,p.%3D,ENST00000380562,;ELN,synonymous_variant,p.%3D,ENST00000442310,;ELN,synonymous_variant,p.%3D,ENST00000252034,;ELN,synonymous_variant,p.%3D,ENST00000380576,;ELN,synonymous_variant,p.%3D,ENST00000380575,;ELN,synonymous_variant,p.%3D,ENST00000431562,;ELN,synonymous_variant,p.%3D,ENST00000320492,;ELN,synonymous_variant,p.%3D,ENST00000445912,;ELN,synonymous_variant,p.%3D,ENST00000438880,;ELN,synonymous_variant,p.%3D,ENST00000414324,;ELN,synonymous_variant,p.%3D,ENST00000429192,;ELN,synonymous_variant,p.%3D,ENST00000380553,;ELN,synonymous_variant,p.%3D,ENST00000358929,;ELN,synonymous_variant,p.%3D,ENST00000320399,;ELN,synonymous_variant,p.%3D,ENST00000458204,;ELN,synonymous_variant,p.%3D,ENST00000417091,;ELN,synonymous_variant,p.%3D,ENST00000357036,;ELN,synonymous_variant,p.%3D,ENST00000380584,;ELN,synonymous_variant,p.%3D,ENST00000428787,;ELN,synonymous_variant,p.%3D,ENST00000438906,;ELN,splice_region_variant,,ENST00000479432,;ELN,splice_region_variant,,ENST00000492003,;ELN,splice_region_variant,,ENST00000494160,;ELN,splice_region_variant,,ENST00000473323,;ELN,splice_region_variant,,ENST00000468517,;ELN,splice_region_variant,,ENST00000480728,;ELN,splice_region_variant,,ENST00000462506,;ELN,splice_region_variant,,ENST00000416107,;ELN,upstream_gene_variant,,ENST00000419398,;	564	74	92	SUCCESS
ZNF804B	219578	.	GRCh37	7	88963559	88963559	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	17	84	0	ENST00000333190.4:c.1263C>T	p.Ser421=	p.S421=	ENST00000333190	NM_181646.2	421	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5613.1	1263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGCAAAAA	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,synonymous_variant,p.%3D,ENST00000333190,;	1872	84	84	SUCCESS
TRPS1	7227	.	GRCh37	8	116426762	116426762	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773593651	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	33	153	0	ENST00000220888.5:c.3335G>A	p.Arg1112Gln	p.R1112Q	ENST00000220888		1112	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6318.2	3374	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	7/7	.	.	.	.	.	.	.	.	rs773593651,COSM1095221,COSM1095219	7/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	0,1,1	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Arg1116Gln,ENST00000520276,;TRPS1,missense_variant,p.Arg1112Gln,ENST00000220888,;TRPS1,missense_variant,p.Arg237Gln,ENST00000518018,;TRPS1,missense_variant,p.Arg866Gln,ENST00000519076,;TRPS1,missense_variant,p.Arg1125Gln,ENST00000395715,;	3952	153	200	SUCCESS
TNFRSF10C	8794	.	GRCh37	8	22974468	22974468	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs953312122	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	60	0	ENST00000356864.3:c.704C>T	p.Pro235Leu	p.P235L	ENST00000356864	NM_003841.3	235	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS6037.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCTGCCT	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF96	.	.	ENSP00000349324	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000356864	Transcript	.	.	ENSG00000173535	11906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	TR10C_HUMAN	TNFRSF10C	HGNC	F5H6H7_HUMAN	.	UPI00001AF00A	SNV	TNFRSF10C,missense_variant,p.Pro235Leu,ENST00000356864,;TNFRSF10C,missense_variant,p.Pro133Leu,ENST00000540813,;TNFRSF10C,downstream_gene_variant,,ENST00000520607,;TNFRSF10C,3_prime_UTR_variant,,ENST00000517558,;TNFRSF10C,downstream_gene_variant,,ENST00000518135,;	1236	61	34	SUCCESS
TMEM245	23731	.	GRCh37	9	111882014	111882014	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	46	0	ENST00000374586.3:c.180G>T	p.Val60=	p.V60=	ENST00000374586	NM_032012.3	60	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43858.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGCACGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21716,hmmpanther:PTHR21716:SF1	.	.	ENSP00000363714	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000374586	Transcript	.	.	ENSG00000106771	1363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM245_HUMAN	TMEM245	HGNC	.	.	UPI000013C833	SNV	TMEM245,synonymous_variant,p.%3D,ENST00000374586,;	212	46	42	SUCCESS
SETX	23064	.	GRCh37	9	135205038	135205038	+	synonymous_variant	Silent	SNP	T	T	G	rs766876019	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	59	0	ENST00000224140.5:c.1947A>C	p.Pro649=	p.P649=	ENST00000224140	NM_015046.5	649	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6947.1	1947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTGGTTC	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336	.	.	ENSP00000224140	.	10/26	.	.	.	.	.	.	.	.	rs766876019	10/26	PASS	ENST00000224140	Transcript	.	.	ENSG00000107290	445	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETX_HUMAN	SETX	HGNC	.	.	UPI0000210D28	SNV	SETX,synonymous_variant,p.%3D,ENST00000372169,;SETX,synonymous_variant,p.%3D,ENST00000393220,;SETX,synonymous_variant,p.%3D,ENST00000224140,;	2130	59	65	SUCCESS
FRMPD4	9758	.	GRCh37	X	12701706	12701706	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs771325062	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	45	109	0	ENST00000380682.1:c.573G>A		p.X191_splice	ENST00000380682	NM_014728.3	191	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35201.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCGGTGAG	CODON|p.S181S|c.543G>A|7	byFrequency	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3	.	.	ENSP00000370057	.	6/17	.	.	.	.	.	.	.	.	rs771325062,COSM39452,COSM3363795,COSM1465462	6/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,synonymous_variant,p.%3D,ENST00000380682,;	1079	109	95	SUCCESS
CD40LG	959	.	GRCh37	X	135730388	135730388	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	50	0	ENST00000370629.2:c.-20C>A		p.*7*	ENST00000370629	NM_000074.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14659.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACCATTTC	NONE	.	.	.	.	.	ENSP00000359663	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000370629	Transcript	.	.	ENSG00000102245	11935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD40L_HUMAN	CD40LG	HGNC	Q3LFI8_HUMAN	.	UPI00000315E7	SNV	CD40LG,5_prime_UTR_variant,,ENST00000370629,;CD40LG,5_prime_UTR_variant,,ENST00000370628,;	37	50	50	SUCCESS
RAB39B	116442	.	GRCh37	X	154493379	154493379	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	58	0	ENST00000369454.3:c.195C>T	p.Thr65=	p.T65=	ENST00000369454	NM_171998.2	65	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14766.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCGGTATC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF395,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000358466	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000369454	Transcript	.	.	ENSG00000155961	16499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB39B_HUMAN	RAB39B	HGNC	.	.	UPI00000412A6	SNV	RAB39B,synonymous_variant,p.%3D,ENST00000369454,;	496	58	60	SUCCESS
MED14	9282	.	GRCh37	X	40526016	40526016	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	66	166	0	ENST00000324817.1:c.3221A>G	p.His1074Arg	p.H1074R	ENST00000324817	NM_004229.3	1074	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS14254.1	3221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATGCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2	.	.	ENSP00000323720	.	24/31	.	.	.	.	.	.	.	.	.	24/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.36)	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,missense_variant,p.His1074Arg,ENST00000324817,;MED14,upstream_gene_variant,,ENST00000433003,;	3340	166	150	SUCCESS
FGF16	8823	.	GRCh37	X	76711987	76711987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	107	0	ENST00000439435.1:c.325T>C	p.Ser109Pro	p.S109P	ENST00000439435		109	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	.	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTCCAGA	NONE	.	.	hmmpanther:PTHR11486:SF27,hmmpanther:PTHR11486,Superfamily_domains:SSF50353	.	.	ENSP00000399324	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439435	Transcript	.	.	ENSG00000196468	3672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	.	FGF16	HGNC	.	.	UPI000059DB67	SNV	FGF16,missense_variant,p.Ser109Pro,ENST00000439435,;	324	107	95	SUCCESS
CYLC1	1538	.	GRCh37	X	83126541	83126541	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	175	344	0	ENST00000329312.4:c.140A>T	p.Asp47Val	p.D47V	ENST00000329312	NM_021118.2	47	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS35341.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGATAAAT	NONE	.	.	hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742,Pfam_domain:PF15241	.	.	ENSP00000331556	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	deleterious(0.02)	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Asp47Val,ENST00000329312,;	177	345	360	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	5369284	5369284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	93	250	0	ENST00000400457.2:c.3253G>A	p.Asp1085Asn	p.D1085N	ENST00000400457	NM_032973.2	1085	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	.	.	3316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGATCCT	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000215473	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000215473	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	.	PCDH11Y	HGNC	Q70LR5_HUMAN,Q70LR4_HUMAN,J3QSR5_HUMAN	.	UPI0000D613B5	SNV	PCDH11Y,missense_variant,p.Asp1106Asn,ENST00000215473,;PCDH11Y,missense_variant,p.Asp1085Asn,ENST00000400457,;	3316	250	225	SUCCESS
NRP1	8829	.	GRCh37	10	33510747	33510747	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	119	0	ENST00000265371.4:c.1182A>G	p.Val394=	p.V394=	ENST00000265371		394	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS7177.1	1182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAATACTGC	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF616,Gene3D:2.60.120.260,Pfam_domain:PF00754,PIRSF_domain:PIRSF036960,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000265371	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000265371	Transcript	.	.	ENSG00000099250	8004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRP1_HUMAN	NRP1	HGNC	Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN	.	UPI000013D60A	SNV	NRP1,synonymous_variant,p.%3D,ENST00000395995,;NRP1,synonymous_variant,p.%3D,ENST00000374867,;NRP1,synonymous_variant,p.%3D,ENST00000265371,;NRP1,synonymous_variant,p.%3D,ENST00000374875,;NRP1,synonymous_variant,p.%3D,ENST00000374816,;NRP1,synonymous_variant,p.%3D,ENST00000374822,;NRP1,synonymous_variant,p.%3D,ENST00000432372,;NRP1,synonymous_variant,p.%3D,ENST00000374823,;NRP1,synonymous_variant,p.%3D,ENST00000374821,;	1708	119	107	SUCCESS
VSTM4	196740	.	GRCh37	10	50255074	50255074	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769295438	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	117	0	ENST00000332853.4:c.791C>A	p.Thr264Lys	p.T264K	ENST00000332853	NM_001031746.3	264	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS31198.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACGTGGGG	NONE	.	.	hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF8	.	.	ENSP00000331062	.	7/8	.	.	.	.	.	.	.	.	rs769295438,COSM318974	7/8	PASS	ENST00000332853	Transcript	.	.	ENSG00000165633	26470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.198)	.	tolerated(0.91)	0,1	VSTM4_HUMAN	VSTM4	HGNC	.	.	UPI00001B01E4	SNV	VSTM4,missense_variant,p.Thr264Lys,ENST00000332853,;	815	117	117	SUCCESS
BTAF1	9044	.	GRCh37	10	93744021	93744021	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	100	0	ENST00000265990.6:c.2287T>C	p.Tyr763His	p.Y763H	ENST00000265990	NM_003972.2	763	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS7419.1	2287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATATTAT	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF12054,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	19/38	.	.	.	.	.	.	.	.	.	19/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,missense_variant,p.Tyr763His,ENST00000265990,;BTAF1,non_coding_transcript_exon_variant,,ENST00000471217,;BTAF1,downstream_gene_variant,,ENST00000476401,;	2595	100	70	SUCCESS
CCDC84	0	.	GRCh37	11	118886070	118886070	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	119	0	ENST00000334418.1:c.859G>C	p.Asp287His	p.D287H	ENST00000334418	NM_198489.1	287	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS8405.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTGATCAC	NONE	.	.	hmmpanther:PTHR31198,Pfam_domain:PF14968	.	.	ENSP00000334767	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000334418	Transcript	.	.	ENSG00000186166	30460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCD84_HUMAN	CCDC84	HGNC	.	.	UPI0000192104	SNV	CCDC84,missense_variant,p.Asp287His,ENST00000334418,;TRAPPC4,upstream_gene_variant,,ENST00000533632,;TRAPPC4,upstream_gene_variant,,ENST00000533058,;TRAPPC4,upstream_gene_variant,,ENST00000528230,;TRAPPC4,upstream_gene_variant,,ENST00000359005,;TRAPPC4,upstream_gene_variant,,ENST00000434101,;TRAPPC4,upstream_gene_variant,,ENST00000525303,;RPS25,downstream_gene_variant,,ENST00000527673,;MIR3656,upstream_gene_variant,,ENST00000577421,;RPS25,downstream_gene_variant,,ENST00000528547,;CCDC84,downstream_gene_variant,,ENST00000580556,;CCDC84,3_prime_UTR_variant,,ENST00000526463,;CCDC84,3_prime_UTR_variant,,ENST00000532132,;CCDC84,non_coding_transcript_exon_variant,,ENST00000533787,;CCDC84,non_coding_transcript_exon_variant,,ENST00000527356,;TRAPPC4,upstream_gene_variant,,ENST00000525079,;TRAPPC4,upstream_gene_variant,,ENST00000533012,;TRAPPC4,upstream_gene_variant,,ENST00000524797,;RPS25,downstream_gene_variant,,ENST00000527853,;RPS25,downstream_gene_variant,,ENST00000532567,;TRAPPC4,upstream_gene_variant,,ENST00000531290,;TRAPPC4,upstream_gene_variant,,ENST00000527680,;RPS25,downstream_gene_variant,,ENST00000527791,;TRAPPC4,upstream_gene_variant,,ENST00000533149,;CCDC84,downstream_gene_variant,,ENST00000524670,;TRAPPC4,upstream_gene_variant,,ENST00000447216,;CCDC84,downstream_gene_variant,,ENST00000583842,;CCDC84,downstream_gene_variant,,ENST00000528088,;RPS25,downstream_gene_variant,,ENST00000524864,;	915	119	109	SUCCESS
TSSC4	10078	.	GRCh37	11	2424065	2424065	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748809381	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	74	0	ENST00000333256.6:c.202C>T	p.Pro68Ser	p.P68S	ENST00000333256		68	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7735.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCACCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13445,hmmpanther:PTHR13445:SF3	.	.	ENSP00000331087	.	3/3	.	.	.	.	.	.	.	.	rs748809381	3/3	PASS	ENST00000333256	Transcript	.	.	ENSG00000184281	12386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.72)	.	TSSC4_HUMAN	TSSC4	HGNC	E9PME3_HUMAN,E9PL88_HUMAN,C9JHT9_HUMAN,C9JDU0_HUMAN	.	UPI0000161FA5	SNV	TSSC4,missense_variant,p.Pro68Ser,ENST00000451491,;TSSC4,missense_variant,p.Pro68Ser,ENST00000496468,;TSSC4,missense_variant,p.Pro68Ser,ENST00000437110,;TSSC4,missense_variant,p.Pro68Ser,ENST00000435795,;TSSC4,missense_variant,p.Pro68Ser,ENST00000485682,;TSSC4,missense_variant,p.Pro68Ser,ENST00000333256,;TSSC4,intron_variant,,ENST00000380992,;TSSC4,intron_variant,,ENST00000440813,;TSSC4,intron_variant,,ENST00000380996,;TRPM5,downstream_gene_variant,,ENST00000533060,;TRPM5,downstream_gene_variant,,ENST00000533881,;TRPM5,downstream_gene_variant,,ENST00000528453,;TRPM5,downstream_gene_variant,,ENST00000452833,;TRPM5,downstream_gene_variant,,ENST00000155858,;AC124057.5,upstream_gene_variant,,ENST00000433035,;TSSC4,upstream_gene_variant,,ENST00000467308,;	645	74	75	SUCCESS
OR52B4	143496	.	GRCh37	11	4389234	4389234	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs267602877	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	46	130	0	ENST00000408920.2:c.292C>T	p.Arg98Cys	p.R98C	ENST00000408920	NM_001005161.3	98	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS41609.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GCAACGATCCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF89,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000386160	.	1/1	.	.	.	.	.	.	.	.	rs267602877,COSM3447296	1/1	PASS	ENST00000408920	Transcript	.	.	ENSG00000221996	15209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.002)	.	tolerated(0.15)	0,1	O52B4_HUMAN	OR52B4	HGNC	.	.	UPI000013F0A2	SNV	OR52B4,missense_variant,p.Arg98Cys,ENST00000408920,;	383	130	122	SUCCESS
TAS2R50	259296	.	GRCh37	12	11138987	11138987	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1421453034	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	113	0	ENST00000506868.1:c.473A>G	p.Tyr158Cys	p.Y158C	ENST00000506868	NM_176890.2	158	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS8638.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATATTCT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF05296,Gene3D:1.20.1070.10,hmmpanther:PTHR11394:SF43,hmmpanther:PTHR11394	.	.	ENSP00000424040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000506868	Transcript	.	.	ENSG00000212126	18882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.18)	.	T2R50_HUMAN	TAS2R50	HGNC	Q50KE4_HUMAN,Q50KE2_HUMAN	.	UPI000000D81E	SNV	TAS2R50,missense_variant,p.Tyr158Cys,ENST00000506868,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;	525	113	115	SUCCESS
EP400	57634	.	GRCh37	12	132512745	132512746	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	79	32	101	0	ENST00000389561.2:c.5295_5296del	p.His1765GlnfsTer11	p.H1765Qfs*11	ENST00000389561	NM_015409.4	1765	CAc/c	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS31929.2	5293-5294	VARSCANI*|PINDEL	.	CCAGCGCACAGTT	NONE	.	.	hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	.	ENSP00000374212	.	27/53	.	.	.	.	.	.	.	.	.	27/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	deletion	EP400,frameshift_variant,p.His1764GlnfsTer11,ENST00000389562,;EP400,frameshift_variant,p.His1728GlnfsTer11,ENST00000332482,;EP400,frameshift_variant,p.His1765GlnfsTer11,ENST00000389561,;EP400,frameshift_variant,p.His1801GlnfsTer11,ENST00000333577,;EP400,frameshift_variant,p.His1684GlnfsTer11,ENST00000330386,;SNORA49,upstream_gene_variant,,ENST00000386157,;	5402-5403	101	111	SUCCESS
RASA3	22821	.	GRCh37	13	114793346	114793346	+	synonymous_variant	Silent	SNP	G	G	A	rs141276378	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	58	195	0	ENST00000334062.7:c.507C>T	p.Thr169=	p.T169=	ENST00000334062	NM_007368.2	169	acC/acT	0	A:0.0011	A:0.0015	.	A:0	.	A	T	protein_coding	YES	CCDS32016.1	507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACGGTGGC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10194:SF53,hmmpanther:PTHR10194,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	A:0	A:0	ENSP00000335029	A:0	6/24	.	.	.	.	.	.	.	.	rs141276378	6/24	PASS	ENST00000334062	Transcript	.	A:0.0004	ENSG00000185989	20331	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	RASA3_HUMAN	RASA3	HGNC	F8W6X8_HUMAN	.	UPI000000DBC1	SNV	RASA3,synonymous_variant,p.%3D,ENST00000389544,;RASA3,synonymous_variant,p.%3D,ENST00000334062,;RASA3,3_prime_UTR_variant,,ENST00000542651,;	629	195	211	SUCCESS
DIO3OS	64150	.	GRCh37	14	102026705	102026705	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	53	0	ENST00000554735.1:n.44C>G		p.*15*	ENST00000554735				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41992.2	.	RADIA|MUTECT|MUSE	.	CCGGGGACGAA	NONE	.	983	.	.	.	ENSP00000427336	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,upstream_gene_variant,,ENST00000510508,;DIO3,upstream_gene_variant,,ENST00000359323,;DIO3OS,mature_miRNA_variant,,ENST00000408206,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000553729,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000555174,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000554735,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000557532,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000554441,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000557109,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000554694,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000553575,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000556120,;	.	53	61	SUCCESS
DIO3OS	64150	.	GRCh37	14	102026711	102026711	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	55	0	ENST00000554735.1:n.38G>T		p.*13*	ENST00000554735				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41992.2	.	RADIA|MUTECT|MUSE	.	ACGAACGGGAC	NONE	.	977	.	.	.	ENSP00000427336	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,upstream_gene_variant,,ENST00000510508,;DIO3,upstream_gene_variant,,ENST00000359323,;DIO3OS,mature_miRNA_variant,,ENST00000408206,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000553729,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000555174,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000554735,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000557532,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000554441,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000557109,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000554694,;DIO3OS,non_coding_transcript_exon_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000553575,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000556120,;	.	55	62	SUCCESS
NPAS3	64067	.	GRCh37	14	34269937	34269937	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	37	0	ENST00000356141.4:c.2424G>A	p.Arg808=	p.R808=	ENST00000356141		808	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS53891.1	2424	MUTECT|MUSE	.	CACAGGGTGAC	NONE	.	.	hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	.	.	ENSP00000348460	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,synonymous_variant,p.%3D,ENST00000548645,;NPAS3,synonymous_variant,p.%3D,ENST00000551492,;NPAS3,synonymous_variant,p.%3D,ENST00000551634,;NPAS3,synonymous_variant,p.%3D,ENST00000346562,;NPAS3,synonymous_variant,p.%3D,ENST00000357798,;NPAS3,synonymous_variant,p.%3D,ENST00000356141,;	2424	37	34	SUCCESS
MYEF2	50804	.	GRCh37	15	48443338	48443338	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745320363	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	130	342	1	ENST00000324324.7:c.1337G>T	p.Arg446Ile	p.R446I	ENST00000324324	NM_016132.3	446	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS32230.1	1337	RADIA|VARSCANS	.	CTATTCTTCCT	NONE	.	.	hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003	.	.	ENSP00000316950	.	14/17	.	.	.	.	.	.	.	.	rs745320363	14/17	PASS	ENST00000324324	Transcript	.	.	ENSG00000104177	17940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.175)	.	tolerated(0.19)	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,missense_variant,p.Arg446Ile,ENST00000324324,;MYEF2,intron_variant,,ENST00000558395,;MYEF2,intron_variant,,ENST00000267836,;MYEF2,upstream_gene_variant,,ENST00000560172,;MYEF2,intron_variant,,ENST00000560513,;MYEF2,intron_variant,,ENST00000560530,;MYEF2,downstream_gene_variant,,ENST00000561351,;MYEF2,upstream_gene_variant,,ENST00000559057,;MYEF2,upstream_gene_variant,,ENST00000558289,;MYEF2,downstream_gene_variant,,ENST00000561301,;	1617	344	359	SUCCESS
RFX7	64864	.	GRCh37	15	56388062	56388062	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1257291850	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	20	0	ENST00000559447.2:c.1573A>G	p.Ile525Val	p.I525V	ENST00000559447		525	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	.	1864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATAGTGC	NONE	.	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.3)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Ile622Val,ENST00000423270,;RFX7,missense_variant,p.Ile525Val,ENST00000559447,;RFX7,missense_variant,p.Ile622Val,ENST00000317318,;RFX7,missense_variant,p.Ile525Val,ENST00000422057,;RFX7,missense_variant,p.Ile525Val,ENST00000559847,;	1864	20	23	SUCCESS
HERC1	8925	.	GRCh37	15	63916053	63916053	+	synonymous_variant	Silent	SNP	C	C	T	rs751845469	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	58	0	ENST00000443617.2:c.13482G>A	p.Ala4494=	p.A4494=	ENST00000443617	NM_003922.3	4494	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45277.1	13482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCGCTAT	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Superfamily_domains:SSF56204	.	.	ENSP00000390158	.	73/78	.	.	.	.	.	.	.	.	rs751845469	73/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,synonymous_variant,p.%3D,ENST00000443617,;HERC1,3_prime_UTR_variant,,ENST00000558324,;HERC1,downstream_gene_variant,,ENST00000561348,;	13570	58	68	SUCCESS
AXIN1	8312	.	GRCh37	16	354369	354369	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	40	100	0	ENST00000262320.3:c.1189G>T	p.Glu397Ter	p.E397*	ENST00000262320	NM_003502.3	397	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS10405.1	1189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCCAGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Glu397Ter,ENST00000262320,;AXIN1,stop_gained,p.Glu397Ter,ENST00000354866,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1561	100	64	SUCCESS
ZNF830	91603	.	GRCh37	17	33288644	33288644	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	45	150	0	ENST00000361952.3:c.59A>G	p.Glu20Gly	p.E20G	ENST00000361952	NM_052857.3	20	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32618.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAATTGC	NONE	.	.	hmmpanther:PTHR13278	.	.	ENSP00000354518	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361952	Transcript	.	.	ENSG00000198783	28291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZN830_HUMAN	ZNF830	HGNC	J3QQQ3_HUMAN	.	UPI0000456A79	SNV	ZNF830,missense_variant,p.Glu20Gly,ENST00000361952,;CCT6B,intron_variant,,ENST00000585073,;CCT6B,upstream_gene_variant,,ENST00000314144,;CCT6B,upstream_gene_variant,,ENST00000436961,;CCT6B,upstream_gene_variant,,ENST00000421975,;ZNF830,upstream_gene_variant,,ENST00000578339,;	96	150	133	SUCCESS
WNK4	65266	.	GRCh37	17	40947049	40947049	+	synonymous_variant	Silent	SNP	C	C	A	rs771639017	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	41	112	0	ENST00000246914.5:c.2610C>A	p.Pro870=	p.P870=	ENST00000246914	NM_032387.4	870	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11439.1	2610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCCGAGTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902,Superfamily_domains:SSF56112	.	.	ENSP00000246914	.	14/19	.	.	.	.	.	.	.	.	rs771639017	14/19	PASS	ENST00000246914	Transcript	.	.	ENSG00000126562	14544	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNK4_HUMAN	WNK4	HGNC	B0LPI0_HUMAN	.	UPI000006FC0F	SNV	WNK4,synonymous_variant,p.%3D,ENST00000246914,;WNK4,intron_variant,,ENST00000587745,;CNTD1,upstream_gene_variant,,ENST00000585355,;COA3,downstream_gene_variant,,ENST00000328434,;CNTD1,upstream_gene_variant,,ENST00000588527,;CNTD1,upstream_gene_variant,,ENST00000588408,;CNTD1,upstream_gene_variant,,ENST00000591559,;WNK4,3_prime_UTR_variant,,ENST00000591448,;CNTD1,upstream_gene_variant,,ENST00000592166,;WNK4,downstream_gene_variant,,ENST00000592072,;COA3,downstream_gene_variant,,ENST00000586680,;	2631	112	114	SUCCESS
RNF167	26001	.	GRCh37	17	4848077	4848077	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	111	0	ENST00000262482.6:c.819G>A	p.Gln273=	p.Q273=	ENST00000262482	NM_015528.1	273	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS11060.1	819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGCCTGT	NONE	.	.	hmmpanther:PTHR22765:SF35,hmmpanther:PTHR22765,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000262482	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262482	Transcript	.	.	ENSG00000108523	24544	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN167_HUMAN	RNF167	HGNC	I3L2D4_HUMAN,I3L1K4_HUMAN,I3L0V7_HUMAN,I3L0L6_HUMAN	.	UPI000006DFEF	SNV	RNF167,missense_variant,p.Ala54Thr,ENST00000576965,;RNF167,missense_variant,p.Ala188Thr,ENST00000572382,;RNF167,synonymous_variant,p.%3D,ENST00000575111,;RNF167,synonymous_variant,p.%3D,ENST00000571816,;RNF167,synonymous_variant,p.%3D,ENST00000576229,;RNF167,synonymous_variant,p.%3D,ENST00000572430,;RNF167,synonymous_variant,p.%3D,ENST00000262482,;SLC25A11,upstream_gene_variant,,ENST00000576951,;PFN1,downstream_gene_variant,,ENST00000574872,;ENO3,upstream_gene_variant,,ENST00000519266,;PFN1,downstream_gene_variant,,ENST00000225655,;RNF167,downstream_gene_variant,,ENST00000576452,;ENO3,upstream_gene_variant,,ENST00000520221,;SLC25A11,upstream_gene_variant,,ENST00000225665,;RNF167,downstream_gene_variant,,ENST00000570328,;ENO3,upstream_gene_variant,,ENST00000522798,;RNF167,downstream_gene_variant,,ENST00000573404,;PFN1,downstream_gene_variant,,ENST00000572383,;SLC25A11,upstream_gene_variant,,ENST00000544061,;RNF167,downstream_gene_variant,,ENST00000571365,;RNF167,downstream_gene_variant,,ENST00000570492,;RNF167,3_prime_UTR_variant,,ENST00000575400,;RNF167,non_coding_transcript_exon_variant,,ENST00000574548,;RNF167,non_coding_transcript_exon_variant,,ENST00000575524,;RNF167,downstream_gene_variant,,ENST00000572554,;SLC25A11,upstream_gene_variant,,ENST00000574710,;	1475	111	106	SUCCESS
TBC1D3P2	440452	.	GRCh37	17	60345601	60345601	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	43	0	ENST00000339120.4:n.727-1G>T		p.X243_splice	ENST00000339120		243		0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCTGAGA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339120	Transcript	.	.	ENSG00000188755	27783	.	.	HIGH	9/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TBC1D3P2	HGNC	.	.	.	SNV	TBC1D3P2,splice_acceptor_variant,,ENST00000339120,;TBC1D3P2,splice_acceptor_variant,,ENST00000581291,;RP11-51L5.7,downstream_gene_variant,,ENST00000602932,;TBC1D3P2,splice_acceptor_variant,,ENST00000577902,;	.	43	44	SUCCESS
TSEN54	283989	.	GRCh37	17	73519814	73519814	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs201775186	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	76	0	ENST00000333213.6:c.1384C>T	p.Arg462Ter	p.R462*	ENST00000333213	NM_207346.2	462	Cga/Tga	0	.	T:0	.	T:0	.	T	R/*	protein_coding	YES	CCDS11724.1	1384	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCGAAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR21027	T:0	.	ENSP00000327487	T:0.001	10/11	.	.	.	.	.	.	.	.	rs201775186	10/11	PASS	ENST00000333213	Transcript	.	T:0.0002	ENSG00000182173	27561	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	SEN54_HUMAN	TSEN54	HGNC	E7EN92_HUMAN	.	UPI00001C1FD2	SNV	TSEN54,stop_gained,p.Arg462Ter,ENST00000333213,;TSEN54,synonymous_variant,p.%3D,ENST00000545228,;LLGL2,upstream_gene_variant,,ENST00000167462,;TSEN54,downstream_gene_variant,,ENST00000434205,;LLGL2,upstream_gene_variant,,ENST00000375227,;LLGL2,upstream_gene_variant,,ENST00000580578,;LLGL2,upstream_gene_variant,,ENST00000579392,;LLGL2,upstream_gene_variant,,ENST00000392550,;LLGL2,upstream_gene_variant,,ENST00000578363,;TSEN54,downstream_gene_variant,,ENST00000580013,;TSEN54,non_coding_transcript_exon_variant,,ENST00000579449,;TSEN54,non_coding_transcript_exon_variant,,ENST00000577197,;TSEN54,downstream_gene_variant,,ENST00000583173,;TSEN54,downstream_gene_variant,,ENST00000583818,;TSEN54,downstream_gene_variant,,ENST00000578415,;	1420	76	75	SUCCESS
ENTHD2	0	.	GRCh37	17	79205335	79205335	+	intron_variant	Intron	SNP	G	G	A	rs201450044	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	91	0	ENST00000300714.3:c.815+43C>T		p.*272*	ENST00000300714	NM_144679.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS11779.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACGGTTGG	NONE	byFrequency|byCluster|by1000G	.	.	A:0.002	.	ENSP00000300714	A:0	.	.	.	.	.	.	.	.	.	rs201450044	.	PASS	ENST00000300714	Transcript	.	A:0.0004	ENSG00000167302	26458	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	AP4AT_HUMAN	ENTHD2	HGNC	.	.	UPI0000071221	SNV	ENTHD2,intron_variant,,ENST00000374769,;ENTHD2,intron_variant,,ENST00000300714,;ENTHD2,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;AC027601.1,intron_variant,,ENST00000569559,;ENTHD2,intron_variant,,ENST00000576090,;ENTHD2,intron_variant,,ENST00000573295,;ENTHD2,intron_variant,,ENST00000571115,;ENTHD2,downstream_gene_variant,,ENST00000570854,;ENTHD2,downstream_gene_variant,,ENST00000574944,;	.	91	78	SUCCESS
ALOX15B	247	.	GRCh37	17	7951790	7951790	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	51	0	ENST00000380183.4:c.1938G>C	p.Gln646His	p.Q646H	ENST00000380183	NM_001141.2	646	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS11128.1	1938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGATCTC	NONE	.	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484	.	.	ENSP00000369530	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000380183	Transcript	.	.	ENSG00000179593	434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	LX15B_HUMAN	ALOX15B	HGNC	.	.	UPI0000140991	SNV	ALOX15B,missense_variant,p.Gln646His,ENST00000380183,;ALOX15B,missense_variant,p.Gln572His,ENST00000573359,;ALOX15B,missense_variant,p.Gln634His,ENST00000572022,;ALOX15B,missense_variant,p.Gln617His,ENST00000380173,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	2077	51	44	SUCCESS
TMEM241	85019	.	GRCh37	18	21001406	21001406	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	57	0	ENST00000383233.3:c.122G>A	p.Trp41Ter	p.W41*	ENST00000383233	NM_032933.4	41	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS11876.2	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCCACCTG	NONE	.	.	hmmpanther:PTHR11132:SF29,hmmpanther:PTHR11132,Transmembrane_helices:TMhelix	.	.	ENSP00000372720	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000383233	Transcript	.	.	ENSG00000134490	31723	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM241_HUMAN	TMEM241	HGNC	.	.	UPI000022A6E0	SNV	TMEM241,stop_gained,p.Trp41Ter,ENST00000578520,;TMEM241,stop_gained,p.Trp41Ter,ENST00000383233,;TMEM241,stop_gained,p.Trp41Ter,ENST00000582336,;TMEM241,stop_gained,p.Trp41Ter,ENST00000542162,;TMEM241,splice_region_variant,,ENST00000450466,;TMEM241,intron_variant,,ENST00000399707,;TMEM241,stop_gained,p.Trp41Ter,ENST00000473688,;TMEM241,stop_gained,p.Trp41Ter,ENST00000497608,;TMEM241,stop_gained,p.Trp41Ter,ENST00000581444,;TMEM241,stop_gained,p.Trp41Ter,ENST00000580025,;TMEM241,synonymous_variant,p.%3D,ENST00000482411,;TMEM241,synonymous_variant,p.%3D,ENST00000577531,;TMEM241,intron_variant,,ENST00000477053,;TMEM241,intron_variant,,ENST00000460322,;	175	57	73	SUCCESS
MYOM1	8736	.	GRCh37	18	3187611	3187612	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	100	0	ENST00000356443.4:c.795dup	p.Ala266CysfsTer5	p.A266Cfs*5	ENST00000356443	NM_019856.1	265	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS45824.1	795-796	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGGCATGAT	NONE	.	.	hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900	.	.	ENSP00000348821	.	5/38	.	.	.	.	.	.	.	.	.	5/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	insertion	MYOM1,frameshift_variant,p.Ala266CysfsTer5,ENST00000356443,;MYOM1,frameshift_variant,p.Ala266CysfsTer5,ENST00000400569,;MYOM1,frameshift_variant,p.Ala266CysfsTer5,ENST00000261606,;RP13-270P17.2,upstream_gene_variant,,ENST00000580139,;	1129-1130	100	116	SUCCESS
CDH19	28513	.	GRCh37	18	64212133	64212133	+	synonymous_variant	Silent	SNP	G	G	A	rs1298743984	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	51	0	ENST00000262150.2:c.783C>T	p.Tyr261=	p.Y261=	ENST00000262150	NM_021153.3	261	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11994.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGTATAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000262150	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,synonymous_variant,p.%3D,ENST00000540086,;CDH19,synonymous_variant,p.%3D,ENST00000262150,;CDH19,synonymous_variant,p.%3D,ENST00000454642,;CDH19,synonymous_variant,p.%3D,ENST00000579658,;	1076	51	49	SUCCESS
TMPRSS9	360200	.	GRCh37	19	2413945	2413945	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750844598	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	59	0	ENST00000332578.3:c.1400G>A	p.Ser467Asn	p.S467N	ENST00000332578	NM_182973.1	467	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS12088.1	1400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGCACCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF108,PIRSF_domain:PIRSF037931	.	.	ENSP00000330264	.	9/17	.	.	.	.	.	.	.	.	rs750844598	9/17	PASS	ENST00000332578	Transcript	.	.	ENSG00000178297	30079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.68)	.	TMPS9_HUMAN	TMPRSS9	HGNC	.	.	UPI00001B4EC6	SNV	TMPRSS9,missense_variant,p.Ser467Asn,ENST00000332578,;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;TMPRSS9,upstream_gene_variant,,ENST00000587863,;	1400	59	58	SUCCESS
LGI4	163175	.	GRCh37	19	35617194	35617194	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1054775133	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	54	118	0	ENST00000310123.3:c.1279C>T	p.Arg427Cys	p.R427C	ENST00000310123	NM_139284.2	427	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12444.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGTGTGA	NONE	.	.	PROSITE_profiles:PS50912,hmmpanther:PTHR24367:SF258,hmmpanther:PTHR24367,Pfam_domain:PF03736	.	.	ENSP00000312273	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000310123	Transcript	.	.	ENSG00000153902	18712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	tolerated(0.08)	.	LGI4_HUMAN	LGI4	HGNC	.	.	UPI000004C5DE	SNV	LGI4,missense_variant,p.Arg427Cys,ENST00000310123,;LGI4,missense_variant,p.Arg339Cys,ENST00000587780,;LGI4,synonymous_variant,p.%3D,ENST00000392225,;LGI4,downstream_gene_variant,,ENST00000591633,;FXYD3,downstream_gene_variant,,ENST00000346446,;FXYD3,downstream_gene_variant,,ENST00000603449,;FXYD3,downstream_gene_variant,,ENST00000454903,;FXYD3,downstream_gene_variant,,ENST00000603524,;FXYD3,downstream_gene_variant,,ENST00000603181,;FXYD3,downstream_gene_variant,,ENST00000605552,;FXYD3,downstream_gene_variant,,ENST00000605677,;FXYD3,downstream_gene_variant,,ENST00000344013,;FXYD3,downstream_gene_variant,,ENST00000406242,;FXYD3,downstream_gene_variant,,ENST00000406988,;FXYD3,downstream_gene_variant,,ENST00000604804,;FXYD3,downstream_gene_variant,,ENST00000604404,;FXYD3,downstream_gene_variant,,ENST00000535103,;FXYD3,downstream_gene_variant,,ENST00000605550,;FXYD3,downstream_gene_variant,,ENST00000604621,;FXYD3,downstream_gene_variant,,ENST00000435734,;FXYD3,downstream_gene_variant,,ENST00000604255,;LGI4,non_coding_transcript_exon_variant,,ENST00000493050,;LGI4,intron_variant,,ENST00000591840,;LGI4,downstream_gene_variant,,ENST00000473160,;LGI4,downstream_gene_variant,,ENST00000593248,;	1799	118	131	SUCCESS
CRX	1406	.	GRCh37	19	48342753	48342753	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	69	0	ENST00000221996.7:c.429T>A	p.Ser143Arg	p.S143R	ENST00000221996	NM_000554.4	143	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS12706.1	429	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTCCCCC	BUFFER|p.P145H|c.434C>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF271	.	.	ENSP00000221996	.	4/4	.	.	.	.	.	.	.	.	CX078211	4/4	PASS	ENST00000221996	Transcript	1	.	ENSG00000105392	2383	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.677)	.	tolerated(0.06)	.	CRX_HUMAN	CRX	HGNC	Q0QD45_HUMAN,H3BUU7_HUMAN,A4GUB7_HUMAN	.	UPI00001284E0	SNV	CRX,missense_variant,p.Ser143Arg,ENST00000539067,;CRX,missense_variant,p.Ser143Arg,ENST00000221996,;TPRX2P,intron_variant,,ENST00000535362,;CRX,downstream_gene_variant,,ENST00000566686,;CRX,upstream_gene_variant,,ENST00000602001,;CRX,downstream_gene_variant,,ENST00000556527,;	635	69	84	SUCCESS
MUC16	94025	.	GRCh37	19	9074134	9074134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	40	100	0	ENST00000397910.4:c.13312G>A	p.Asp4438Asn	p.D4438N	ENST00000397910	NM_024690.2	4438	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS54212.1	13312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCCTTGG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Asp4438Asn,ENST00000397910,;	13516	101	111	SUCCESS
SV2A	9900	.	GRCh37	1	149885087	149885087	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	69	89	0	ENST00000369146.3:c.306C>T	p.Pro102=	p.P102=	ENST00000369146	NM_014849.4	102	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS940.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGGGAAT	NONE	.	.	hmmpanther:PTHR24065:SF4,hmmpanther:PTHR24065,TIGRFAM_domain:TIGR01299	.	.	ENSP00000358142	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000369146	Transcript	.	.	ENSG00000159164	20566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SV2A_HUMAN	SV2A	HGNC	.	.	UPI000000DAD2	SNV	SV2A,synonymous_variant,p.%3D,ENST00000369145,;SV2A,synonymous_variant,p.%3D,ENST00000369146,;	797	89	120	SUCCESS
SNX27	81609	.	GRCh37	1	151665429	151665429	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	58	162	0	ENST00000458013.2:c.1432G>A	p.Asp478Asn	p.D478N	ENST00000458013		478	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1001.1	1432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGACACA	NONE	.	.	hmmpanther:PTHR12431:SF1,hmmpanther:PTHR12431	.	.	ENSP00000357836	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000368843	Transcript	.	.	ENSG00000143376	20073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.08)	.	SNX27_HUMAN	SNX27	HGNC	.	.	UPI00001A962E	SNV	SNX27,missense_variant,p.Asp478Asn,ENST00000368843,;SNX27,missense_variant,p.Asp478Asn,ENST00000458013,;SNX27,missense_variant,p.Asp385Asn,ENST00000368838,;SNX27,3_prime_UTR_variant,,ENST00000368841,;	1552	162	223	SUCCESS
HSD11B1	3290	.	GRCh37	1	209879256	209879256	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	16	93	0	ENST00000367027.3:c.189del	p.Thr64GlnfsTer33	p.T64Qfs*33	ENST00000367027	NM_005525.3	63	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS1489.1	189	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGTGACAGC	NONE	.	.	hmmpanther:PTHR24322:SF249,hmmpanther:PTHR24322,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000355995	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000367028	Transcript	.	.	ENSG00000117594	5208	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHI1_HUMAN	HSD11B1	HGNC	.	.	UPI000004C796	deletion	HSD11B1,frameshift_variant,p.Thr64GlnfsTer33,ENST00000367027,;HSD11B1,frameshift_variant,p.Thr64GlnfsTer33,ENST00000261465,;HSD11B1,frameshift_variant,p.Thr64GlnfsTer33,ENST00000367028,;RP1-28O10.1,intron_variant,,ENST00000441672,;	358	93	135	SUCCESS
AHDC1	27245	.	GRCh37	1	27878374	27878374	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	81	0	ENST00000247087.5:c.253C>A	p.Pro85Thr	p.P85T	ENST00000247087		85	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS30652.1	253	MUTECT|MUSE|VARSCANS	.	TGGGGGCAGCG	NONE	.	.	hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.803)	.	tolerated_low_confidence(0.56)	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	SNV	AHDC1,missense_variant,p.Pro85Thr,ENST00000247087,;AHDC1,missense_variant,p.Pro85Thr,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	1222	81	50	SUCCESS
HEYL	26508	.	GRCh37	1	40092821	40092821	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	50	151	0	ENST00000372852.3:c.345C>A	p.Asp115Glu	p.D115E	ENST00000372852	NM_014571.3	115	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS439.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAAGTCAAC	NONE	.	.	hmmpanther:PTHR10985:SF10,hmmpanther:PTHR10985,SMART_domains:SM00511,Superfamily_domains:0053813	.	.	ENSP00000361943	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372852	Transcript	.	.	ENSG00000163909	4882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	HEYL_HUMAN	HEYL	HGNC	F5H3V9_HUMAN	.	UPI000013E317	SNV	HEYL,missense_variant,p.Asp115Glu,ENST00000372852,;HEYL,missense_variant,p.Asp87Glu,ENST00000535435,;	665	151	79	SUCCESS
OGFR	11054	.	GRCh37	20	61436212	61436212	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	84	0	ENST00000290291.6:c.1A>G	p.Met1?	p.M1?	ENST00000290291	NM_007346.2	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS13504.1	1	MUTECT|MUSE	.	CGAGCATGGAC	NONE	.	.	hmmpanther:PTHR14015:SF1,hmmpanther:PTHR14015	.	.	ENSP00000290291	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000290291	Transcript	.	.	ENSG00000060491	15768	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.878)	.	deleterious_low_confidence(0)	.	OGFR_HUMAN	OGFR	HGNC	Q4VXW3_HUMAN	.	UPI000013F107	SNV	OGFR,start_lost,p.Met1?,ENST00000290291,;OGFR,upstream_gene_variant,,ENST00000450048,;OGFR,upstream_gene_variant,,ENST00000370461,;MRGBP,downstream_gene_variant,,ENST00000370487,;OGFR-AS1,intron_variant,,ENST00000431361,;	26	84	89	SUCCESS
PAK7	0	.	GRCh37	20	9561354	9561354	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	54	127	0	ENST00000353224.5:c.428C>A	p.Thr143Asn	p.T143N	ENST00000353224	NM_177990.2	143	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS13107.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCGGTCGTG	BUFFER|p.E144K|c.430G>A|5	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.55)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Thr143Asn,ENST00000378423,;PAK7,missense_variant,p.Thr143Asn,ENST00000378429,;PAK7,missense_variant,p.Thr143Asn,ENST00000353224,;RP5-986I17.2,downstream_gene_variant,,ENST00000428769,;	975	127	133	SUCCESS
RRP7B	0	.	GRCh37	22	42952641	42952641	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	90	0	ENST00000357802.2:n.963G>T		p.*321*	ENST00000357802				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14037.1	.	MUTECT|VARSCANS	.	CTGGGCCCCGG	NONE	.	.	.	.	.	ENSP00000331376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327678	Transcript	.	.	ENSG00000183569	29446	.	.	MODIFIER	6/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEHL2_HUMAN	SERHL2	HGNC	E9PMQ2_HUMAN	.	UPI0000135810	SNV	SERHL2,intron_variant,,ENST00000340239,;SERHL2,intron_variant,,ENST00000327678,;SERHL2,intron_variant,,ENST00000407614,;SERHL2,intron_variant,,ENST00000335879,;SERHL2,intron_variant,,ENST00000447870,;Z93241.1,upstream_gene_variant,,ENST00000580472,;RRP7B,non_coding_transcript_exon_variant,,ENST00000357802,;SERHL2,intron_variant,,ENST00000416156,;SERHL2,intron_variant,,ENST00000534080,;SERHL2,intron_variant,,ENST00000477564,;SERHL2,intron_variant,,ENST00000527167,;SERHL2,downstream_gene_variant,,ENST00000472589,;	.	90	72	SUCCESS
GREB1	9687	.	GRCh37	2	11775439	11775439	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200590869	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	63	0	ENST00000234142.5:c.5254G>T	p.Ala1752Ser	p.A1752S	ENST00000234142		1752	Gcc/Tcc	0	A:0.0002	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS42655.1	5254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGCCGGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	A:0	A:0	ENSP00000370896	A:0.001	30/33	.	.	.	.	.	.	.	.	rs200590869	30/33	PASS	ENST00000381486	Transcript	.	A:0.0002	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	A:0	tolerated(1)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Ala1752Ser,ENST00000234142,;GREB1,missense_variant,p.Ala750Ser,ENST00000396123,;GREB1,missense_variant,p.Ala1752Ser,ENST00000381486,;	5554	63	57	SUCCESS
CFC1	55997	.	GRCh37	2	131356332	131356332	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	644	116	725	0	ENST00000259216.4:c.130C>G	p.Gln44Glu	p.Q44E	ENST00000259216	NM_032545.3	44	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS2162.1	130	MUTECT|MUSE|VARSCANS	.	CTTCTGAGTGG	NONE	.	.	hmmpanther:PTHR14949:SF20,hmmpanther:PTHR14949	.	.	ENSP00000259216	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000259216	Transcript	.	.	ENSG00000136698	18292	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.257)	.	tolerated(0.22)	.	CFC1_HUMAN	CFC1	HGNC	.	.	UPI0000070FF1	SNV	CFC1,missense_variant,p.Gln44Glu,ENST00000259216,;	393	725	761	SUCCESS
LRP1B	53353	.	GRCh37	2	141294168	141294168	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	38	126	0	ENST00000389484.3:c.7624G>A	p.Glu2542Lys	p.E2542K	ENST00000389484	NM_018557.2	2542	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2182.1	7624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCATCTG	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	46/91	.	.	.	.	.	.	.	.	COSM3567183,COSM3694888	46/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.621)	.	.	1,1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Glu2542Lys,ENST00000389484,;	8596	126	187	SUCCESS
SLC25A12	8604	.	GRCh37	2	172641967	172641967	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	45	129	0	ENST00000422440.2:c.1854A>G	p.Glu618=	p.E618=	ENST00000422440	NM_003705.4	618	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS33327.1	1854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGTTCTGA	NONE	.	.	.	.	.	ENSP00000388658	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,synonymous_variant,p.%3D,ENST00000422440,;SLC25A12,synonymous_variant,p.%3D,ENST00000392592,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000472070,;	1892	129	201	SUCCESS
PLEKHA3	65977	.	GRCh37	2	179365879	179365879	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	81	231	0	ENST00000234453.5:c.751G>A	p.Asp251Asn	p.D251N	ENST00000234453	NM_019091.3	251	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33336.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTGATATT	NONE	.	.	hmmpanther:PTHR10219,hmmpanther:PTHR10219:SF15	.	.	ENSP00000234453	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000234453	Transcript	.	.	ENSG00000116095	14338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.752)	.	tolerated(0.1)	.	PKHA3_HUMAN	PLEKHA3	HGNC	.	.	UPI000000DA8A	SNV	PLEKHA3,missense_variant,p.Asp60Asn,ENST00000421187,;PLEKHA3,missense_variant,p.Asp251Asn,ENST00000234453,;	1153	231	309	SUCCESS
CTLA4	1493	.	GRCh37	2	204736111	204736111	+	synonymous_variant	Silent	SNP	G	G	A	rs200657280	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	72	0	ENST00000302823.3:c.468G>A	p.Pro156=	p.P156=	ENST00000302823	NM_005214.4	156	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS2362.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCGTGCCC	NONE	byCluster	.	hmmpanther:PTHR11494,hmmpanther:PTHR11494:SF8,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	A:0.0001	ENSP00000303939	.	3/4	.	.	.	.	.	.	.	.	rs200657280	3/4	PASS	ENST00000302823	Transcript	.	.	ENSG00000163599	2505	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTLA4_HUMAN	CTLA4	HGNC	Q9BZK2_HUMAN,Q8TDA6_HUMAN,Q0Q5F1_HUMAN,E9L3G3_HUMAN,E9L3G1_HUMAN,E9L3G0_HUMAN	.	UPI0000031FDF	SNV	CTLA4,synonymous_variant,p.%3D,ENST00000302823,;CTLA4,intron_variant,,ENST00000427473,;CTLA4,intron_variant,,ENST00000295854,;CTLA4,intron_variant,,ENST00000472206,;CTLA4,intron_variant,,ENST00000487393,;	625	72	51	SUCCESS
SPEG	10290	.	GRCh37	2	220353004	220353004	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	56	0	ENST00000312358.7:c.7830C>A	p.Cys2610Ter	p.C2610*	ENST00000312358	NM_005876.4	2610	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS42824.1	7830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCCCTGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	32/41	.	.	.	.	.	.	.	.	.	32/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,stop_gained,p.Cys2610Ter,ENST00000312358,;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	7962	57	67	SUCCESS
ATAD2B	54454	.	GRCh37	2	24021162	24021162	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	108	338	0	ENST00000238789.5:c.2486G>A	p.Ser829Asn	p.S829N	ENST00000238789	NM_001242338.1	829	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS46227.1	2486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATACTAGGT	NONE	.	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000238789	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	deleterious(0)	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,missense_variant,p.Ser829Asn,ENST00000238789,;ATAD2B,missense_variant,p.Ser110Asn,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;	2830	339	301	SUCCESS
REG1A	5967	.	GRCh37	2	79348711	79348711	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142176788	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	43	0	ENST00000233735.1:c.88C>T	p.Pro30Ser	p.P30S	ENST00000233735	NM_002909.4	30	Ccc/Tcc	0	T:0.0005	.	.	.	.	T	P/S	protein_coding	YES	CCDS1964.1	88	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGCCCCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF25,Gene3D:3.10.100.10,Superfamily_domains:SSF56436,Prints_domain:PR01504	.	T:0	ENSP00000233735	.	3/6	.	.	.	.	.	.	.	.	rs142176788,COSM3391861	3/6	PASS	ENST00000233735	Transcript	.	.	ENSG00000115386	9951	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.462)	.	tolerated(0.09)	0,1	REG1A_HUMAN	REG1A	HGNC	Q2TBE1_HUMAN	.	UPI000012E72D	SNV	REG1A,missense_variant,p.Pro30Ser,ENST00000233735,;REG1A,non_coding_transcript_exon_variant,,ENST00000488524,;REG1A,non_coding_transcript_exon_variant,,ENST00000485184,;REG1A,non_coding_transcript_exon_variant,,ENST00000461579,;	191	43	43	SUCCESS
CTNNA2	1496	.	GRCh37	2	80136865	80136865	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	75	185	1	ENST00000402739.4:c.998C>T	p.Ala333Val	p.A333V	ENST00000402739	NM_001282597.1	333	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42703.2	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGCGGAGT	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23	.	.	ENSP00000418191	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	tolerated(0.09)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Ala333Val,ENST00000496558,;CTNNA2,missense_variant,p.Ala333Val,ENST00000540488,;CTNNA2,missense_variant,p.Ala367Val,ENST00000361291,;CTNNA2,missense_variant,p.Ala333Val,ENST00000466387,;CTNNA2,missense_variant,p.Ala333Val,ENST00000541047,;CTNNA2,missense_variant,p.Ala333Val,ENST00000402739,;	1722	186	220	SUCCESS
IFT57	55081	.	GRCh37	3	107886700	107886700	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	66	0	ENST00000264538.3:c.789C>G	p.Ile263Met	p.I263M	ENST00000264538	NM_018010.3	263	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS2951.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGATTCT	NONE	.	.	hmmpanther:PTHR16011,Pfam_domain:PF10498	.	.	ENSP00000264538	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000264538	Transcript	.	.	ENSG00000114446	17367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.16)	.	IFT57_HUMAN	IFT57	HGNC	.	.	UPI0000039E8B	SNV	IFT57,missense_variant,p.Ile263Met,ENST00000264538,;IFT57,upstream_gene_variant,,ENST00000468021,;IFT57,3_prime_UTR_variant,,ENST00000478157,;	1037	66	90	SUCCESS
SLC25A20	788	.	GRCh37	3	48936267	48936267	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs770977156	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	7	138	0	ENST00000319017.4:c.-40G>C		p.*14*	ENST00000319017	NM_000387.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2779.1	.	MUTECT|MUSE	.	CGGGCCGTCCT	NONE	.	.	.	.	.	ENSP00000326305	.	1/9	.	.	.	.	.	.	.	.	rs770977156	1/9	PASS	ENST00000319017	Transcript	.	.	ENSG00000178537	1421	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCAT_HUMAN	SLC25A20	HGNC	B4DWZ5_HUMAN	.	UPI000012ED5E	SNV	SLC25A20,5_prime_UTR_variant,,ENST00000544097,;SLC25A20,5_prime_UTR_variant,,ENST00000319017,;SLC25A20,5_prime_UTR_variant,,ENST00000430379,;SLC25A20,5_prime_UTR_variant,,ENST00000440964,;	160	138	167	SUCCESS
IRF2	3660	.	GRCh37	4	185309971	185309971	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753833490	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	35	94	0	ENST00000393593.3:c.991C>T	p.Arg331Trp	p.R331W	ENST00000393593	NM_002199.3	331	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3835.1	991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGGGTCT	NONE	.	.	PIRSF_domain:PIRSF038196,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22	.	.	ENSP00000377218	.	9/9	.	.	.	.	.	.	.	.	rs753833490,COSM1428848	9/9	PASS	ENST00000393593	Transcript	.	.	ENSG00000168310	6117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1	IRF2_HUMAN	IRF2	HGNC	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN	.	UPI000012D888	SNV	IRF2,missense_variant,p.Arg331Trp,ENST00000393593,;IRF2,downstream_gene_variant,,ENST00000502750,;IRF2,downstream_gene_variant,,ENST00000505067,;	1199	94	58	SUCCESS
LPHN3	0	.	GRCh37	4	62598783	62598783	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	82	0	ENST00000514591.1:c.706A>T	p.Arg236Trp	p.R236W	ENST00000514591		236	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54768.1	706	MUTECT|MUSE	.	GGACTAGGATA	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02191,SMART_domains:SM00284,Prints_domain:PR01444	.	.	ENSP00000422533	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Arg304Trp,ENST00000506720,;LPHN3,missense_variant,p.Arg236Trp,ENST00000545650,;LPHN3,missense_variant,p.Arg304Trp,ENST00000507625,;LPHN3,missense_variant,p.Arg236Trp,ENST00000504896,;LPHN3,missense_variant,p.Arg236Trp,ENST00000508946,;LPHN3,missense_variant,p.Arg236Trp,ENST00000506700,;LPHN3,missense_variant,p.Arg236Trp,ENST00000514591,;LPHN3,missense_variant,p.Arg236Trp,ENST00000514996,;LPHN3,missense_variant,p.Arg304Trp,ENST00000506746,;LPHN3,missense_variant,p.Arg304Trp,ENST00000508693,;LPHN3,missense_variant,p.Arg236Trp,ENST00000514157,;LPHN3,missense_variant,p.Arg236Trp,ENST00000512091,;LPHN3,missense_variant,p.Arg304Trp,ENST00000509896,;LPHN3,missense_variant,p.Arg304Trp,ENST00000511324,;LPHN3,missense_variant,p.Arg304Trp,ENST00000507164,;	1035	82	77	SUCCESS
FNIP1	96459	.	GRCh37	5	131013525	131013525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	86	0	ENST00000510461.1:c.1390C>T	p.Leu464Phe	p.L464F	ENST00000510461	NM_133372.2	464	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS34227.1	1390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGATGAT	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14637	.	.	ENSP00000421985	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000510461	Transcript	.	.	ENSG00000217128	29418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FNIP1_HUMAN	FNIP1	HGNC	B3KX44_HUMAN	.	UPI00001AEE81	SNV	FNIP1,missense_variant,p.Leu436Phe,ENST00000307968,;FNIP1,missense_variant,p.Leu464Phe,ENST00000510461,;FNIP1,missense_variant,p.Leu419Phe,ENST00000307954,;FNIP1,missense_variant,p.Leu464Phe,ENST00000511848,;CTC-432M15.3,intron_variant,,ENST00000514667,;	1486	86	65	SUCCESS
PCDHA1	56147	.	GRCh37	5	140166927	140166927	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	42	119	0	ENST00000504120.2:c.1052del	p.Ala351GlyfsTer35	p.A351Gfs*35	ENST00000504120	NM_018900.2	351	gCg/gg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS54913.1	1052	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTGGCGGTCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000420840	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000504120	Transcript	.	.	ENSG00000204970	8663	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	deletion	PCDHA1,frameshift_variant,p.Ala351GlyfsTer35,ENST00000504120,;PCDHA1,frameshift_variant,p.Ala351GlyfsTer35,ENST00000394633,;PCDHA1,frameshift_variant,p.Ala351GlyfsTer35,ENST00000378133,;	1052	119	188	SUCCESS
TNIP1	10318	.	GRCh37	5	150415262	150415262	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	37	0	ENST00000315050.7:c.1402A>G	p.Ile468Val	p.I468V	ENST00000315050	NM_001252391.1	468	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34280.1	1402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGATCTTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882:SF3,hmmpanther:PTHR31882,Gene3D:1.20.5.990	.	.	ENSP00000374029	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000389378	Transcript	.	.	ENSG00000145901	16903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	tolerated(0.07)	.	TNIP1_HUMAN	TNIP1	HGNC	E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN	.	UPI000000DCDC	SNV	TNIP1,missense_variant,p.Ile468Val,ENST00000518977,;TNIP1,missense_variant,p.Ile468Val,ENST00000523200,;TNIP1,missense_variant,p.Ile81Val,ENST00000517504,;TNIP1,missense_variant,p.Ile468Val,ENST00000523338,;TNIP1,missense_variant,p.Ile415Val,ENST00000520931,;TNIP1,missense_variant,p.Ile468Val,ENST00000524280,;TNIP1,missense_variant,p.Ile468Val,ENST00000315050,;TNIP1,missense_variant,p.Ile468Val,ENST00000522226,;TNIP1,missense_variant,p.Ile468Val,ENST00000389378,;TNIP1,missense_variant,p.Ile468Val,ENST00000521591,;TNIP1,intron_variant,,ENST00000521423,;TNIP1,missense_variant,p.Ile415Val,ENST00000519339,;TNIP1,non_coding_transcript_exon_variant,,ENST00000522574,;TNIP1,upstream_gene_variant,,ENST00000517329,;	1991	37	32	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178585721	178585721	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	41	0	ENST00000251582.7:c.1132+3G>T		p.X378_splice	ENST00000251582	NM_014244.4	378		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4444.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCACCTT	NONE	.	.	.	.	.	ENSP00000251582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	LOW	6/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,splice_region_variant,,ENST00000274609,;ADAMTS2,splice_region_variant,,ENST00000251582,;	.	42	28	SUCCESS
IRX1	79192	.	GRCh37	5	3600742	3600742	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	80	0	ENST00000302006.3:c.1332G>T	p.Arg444Ser	p.R444S	ENST00000302006	NM_024337.3	444	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS34132.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCCAGA	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.07)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Arg444Ser,ENST00000302006,;CTD-2012M11.3,upstream_gene_variant,,ENST00000559410,;	1384	80	77	SUCCESS
EGFLAM	133584	.	GRCh37	5	38427168	38427168	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs370628892	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	41	0	ENST00000354891.3:c.1868C>G	p.Pro623Arg	p.P623R	ENST00000354891	NM_001205301.1	623	cCc/cGc	0	T:0.0002	.	.	.	.	G	P/R	protein_coding	YES	CCDS56363.1	1868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCCCTGGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	T:0	ENSP00000346964	.	14/23	.	.	.	.	.	.	.	.	rs370628892	14/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.14)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Pro389Arg,ENST00000336740,;EGFLAM,missense_variant,p.Pro623Arg,ENST00000354891,;EGFLAM,missense_variant,p.Pro623Arg,ENST00000322350,;EGFLAM,5_prime_UTR_variant,,ENST00000397202,;EGFLAM-AS1,intron_variant,,ENST00000508986,;CTD-2108O9.4,downstream_gene_variant,,ENST00000513087,;	2214	41	61	SUCCESS
GTF2H2B	653238	.	GRCh37	5	69741330	69741330	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	42	0	ENST00000513202.1:n.1153G>A		p.*385*	ENST00000513202				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|VARSCANS	.	TCAGGGGGAAT	NONE	.	4133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000602697	Transcript	.	.	ENSG00000269983	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-497H16.9	Clone_based_vega_gene	.	.	.	SNV	RP11-497H16.9,upstream_gene_variant,,ENST00000602697,;GTF2H2B,non_coding_transcript_exon_variant,,ENST00000513202,;GTF2H2B,non_coding_transcript_exon_variant,,ENST00000412385,;GTF2H2B,non_coding_transcript_exon_variant,,ENST00000508065,;GTF2H2B,non_coding_transcript_exon_variant,,ENST00000506804,;	.	42	28	SUCCESS
SLC17A4	10050	.	GRCh37	6	25776923	25776923	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	26	104	0	ENST00000377905.4:c.1088T>A	p.Leu363His	p.L363H	ENST00000377905	NM_005495.2	363	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS4564.1	1088	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTCATCA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF25,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000367137	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000377905	Transcript	.	.	ENSG00000146039	10932	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S17A4_HUMAN	SLC17A4	HGNC	.	.	UPI0000073585	SNV	SLC17A4,missense_variant,p.Leu133His,ENST00000397076,;SLC17A4,missense_variant,p.Leu363His,ENST00000377905,;SLC17A4,missense_variant,p.Leu133His,ENST00000439485,;	1207	104	155	SUCCESS
DSP	1832	.	GRCh37	6	7580097	7580097	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	183	172	0	ENST00000379802.3:c.3674C>G	p.Ser1225Cys	p.S1225C	ENST00000379802	NM_004415.2	1225	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS4501.1	3674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATCCATGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Ser1225Cys,ENST00000379802,;DSP,intron_variant,,ENST00000418664,;	4015	172	285	SUCCESS
RP9	6100	.	GRCh37	7	33136968	33136968	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1361076660	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	52	0	ENST00000297157.3:c.320G>A	p.Arg107His	p.R107H	ENST00000297157	NM_203288.1	107	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5440.1	320	RADIA|MUTECT|MUSE	.	TGCAACGCCAA	NONE	.	.	.	.	.	ENSP00000297157	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000297157	Transcript	.	.	ENSG00000164610	10288	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.05)	.	RP9_HUMAN	RP9	HGNC	.	.	UPI0000032AA5	SNV	RP9,missense_variant,p.Arg107His,ENST00000297157,;RP9,missense_variant,p.Arg73His,ENST00000448915,;RP9,downstream_gene_variant,,ENST00000474370,;RP9,downstream_gene_variant,,ENST00000492391,;	338	52	51	SUCCESS
SRRM3	222183	.	GRCh37	7	75890890	75890890	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782757564	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	66	0	ENST00000326382.8:c.665G>T	p.Arg222Ile	p.R222I	ENST00000326382	NM_001110199.1	222	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	.	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGACGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF13	.	.	ENSP00000325298	.	8/15	.	.	.	.	.	.	.	.	rs782757564	8/15	PASS	ENST00000326382	Transcript	.	.	ENSG00000177679	26729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	SRRM3_HUMAN	SRRM3	HGNC	.	.	UPI0000E5ADAA	SNV	SRRM3,missense_variant,p.Arg222Ile,ENST00000326382,;SRRM3,missense_variant,p.Arg222Ile,ENST00000388802,;SRRM3,upstream_gene_variant,,ENST00000464752,;SRRM3,downstream_gene_variant,,ENST00000479294,;	872	66	78	SUCCESS
MELK	9833	.	GRCh37	9	36589546	36589546	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749522568	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	76	0	ENST00000298048.2:c.158G>T	p.Arg53Leu	p.R53L	ENST00000298048	NM_014791.3	53	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS6606.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGGATCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343,PROSITE_profiles:PS50011	.	.	ENSP00000298048	.	4/18	.	.	.	.	.	.	.	.	rs749522568	4/18	PASS	ENST00000298048	Transcript	.	.	ENSG00000165304	16870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MELK_HUMAN	MELK	HGNC	A7BG63_HUMAN	.	UPI000004776B	SNV	MELK,missense_variant,p.Arg53Leu,ENST00000536860,;MELK,missense_variant,p.Arg53Leu,ENST00000541717,;MELK,missense_variant,p.Arg53Leu,ENST00000545008,;MELK,missense_variant,p.Arg53Leu,ENST00000298048,;MELK,missense_variant,p.Arg21Leu,ENST00000543751,;MELK,5_prime_UTR_variant,,ENST00000536987,;MELK,5_prime_UTR_variant,,ENST00000538311,;MELK,intron_variant,,ENST00000536329,;MELK,non_coding_transcript_exon_variant,,ENST00000495529,;MELK,non_coding_transcript_exon_variant,,ENST00000489766,;MELK,non_coding_transcript_exon_variant,,ENST00000487398,;	342	76	61	SUCCESS
POLR1E	64425	.	GRCh37	9	37487883	37487883	+	synonymous_variant	Silent	SNP	C	C	A	rs1234611290	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	66	1	ENST00000377792.3:c.390C>A	p.Ser130=	p.S130=	ENST00000377792		130	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6611.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCTATGT	NONE	.	.	Pfam_domain:PF06870,hmmpanther:PTHR14440	.	.	ENSP00000367029	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000377798	Transcript	.	.	ENSG00000137054	17631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPA49_HUMAN	POLR1E	HGNC	.	.	UPI00000467F3	SNV	POLR1E,synonymous_variant,p.%3D,ENST00000377798,;POLR1E,synonymous_variant,p.%3D,ENST00000377792,;POLR1E,5_prime_UTR_variant,,ENST00000442009,;RP11-405L18.4,downstream_gene_variant,,ENST00000422509,;	317	67	67	SUCCESS
TAF9B	51616	.	GRCh37	X	77393271	77393271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1557250202	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	158	219	0	ENST00000341864.5:c.380A>G	p.Tyr127Cys	p.Y127C	ENST00000341864	NM_015975.4	127	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS35340.1	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTATAGTTT	NONE	.	.	hmmpanther:PTHR12075:SF1,hmmpanther:PTHR12075,Pfam_domain:PF02291	.	.	ENSP00000339917	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000341864	Transcript	.	.	ENSG00000187325	17306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TAF9B_HUMAN	TAF9B	HGNC	.	.	UPI0000071003	SNV	TAF9B,missense_variant,p.Tyr127Cys,ENST00000341864,;TAF9B,non_coding_transcript_exon_variant,,ENST00000480681,;	475	220	209	SUCCESS
C10orf76	0	.	GRCh37	10	103789389	103789389	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	80	0	ENST00000370033.4:c.414+6G>A		p.X138_splice	ENST00000370033	NM_024541.2	138		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41563.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGCCTCAC	NONE	.	.	.	.	.	ENSP00000359050	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370033	Transcript	.	.	ENSG00000120029	25788	.	.	LOW	5/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ076_HUMAN	C10orf76	HGNC	.	.	UPI000047005B	SNV	C10orf76,synonymous_variant,p.%3D,ENST00000311122,;C10orf76,splice_region_variant,,ENST00000370033,;C10orf76,non_coding_transcript_exon_variant,,ENST00000470043,;	.	80	72	SUCCESS
FBXL15	79176	.	GRCh37	10	104179696	104179696	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	19	0	ENST00000224862.3:c.-1191G>A		p.*397*	ENST00000224862	NM_024326.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31273.1	.	RADIA|MUTECT|MUSE	.	GGGGTGGGGAA	NONE	.	.	.	.	.	ENSP00000224862	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224862	Transcript	.	.	ENSG00000107872	28155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FXL15_HUMAN	FBXL15	HGNC	.	.	UPI00001F9620	SNV	FBXL15,5_prime_UTR_variant,,ENST00000457067,;FBXL15,5_prime_UTR_variant,,ENST00000224862,;FBXL15,5_prime_UTR_variant,,ENST00000369956,;FBXL15,intron_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000440407,;FBXL15,upstream_gene_variant,,ENST00000425536,;PSD,upstream_gene_variant,,ENST00000020673,;PSD,upstream_gene_variant,,ENST00000406432,;CUEDC2,downstream_gene_variant,,ENST00000369937,;FBXL15,non_coding_transcript_exon_variant,,ENST00000481808,;PSD,intron_variant,,ENST00000492902,;PSD,upstream_gene_variant,,ENST00000472685,;CUEDC2,downstream_gene_variant,,ENST00000486762,;CUEDC2,downstream_gene_variant,,ENST00000465409,;CUEDC2,downstream_gene_variant,,ENST00000477994,;	126	19	11	SUCCESS
CPEB3	22849	.	GRCh37	10	93904825	93904825	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	33	105	0	ENST00000265997.4:c.1240A>T	p.Ser414Cys	p.S414C	ENST00000265997	NM_014912.4	414	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31246.1	1240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTATCAT	NONE	.	.	hmmpanther:PTHR12566,hmmpanther:PTHR12566:SF7	.	.	ENSP00000265997	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000265997	Transcript	.	.	ENSG00000107864	21746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious(0.05)	.	CPEB3_HUMAN	CPEB3	HGNC	.	.	UPI000013F7DE	SNV	CPEB3,missense_variant,p.Ser414Cys,ENST00000265997,;CPEB3,missense_variant,p.Ser400Cys,ENST00000412050,;	1413	105	106	SUCCESS
DRD2	1813	.	GRCh37	11	113288785	113288785	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201724929	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	63	0	ENST00000362072.3:c.359C>T	p.Ala120Val	p.A120V	ENST00000362072	NM_000795.3	120	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8361.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGCCGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000354859	.	3/8	.	.	.	.	.	.	.	.	rs201724929	3/8	PASS	ENST00000362072	Transcript	.	.	ENSG00000149295	3023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	DRD2_HUMAN	DRD2	HGNC	Q6LDH7_HUMAN	.	UPI0000001315	SNV	DRD2,missense_variant,p.Ala120Val,ENST00000542968,;DRD2,missense_variant,p.Ala120Val,ENST00000543292,;DRD2,missense_variant,p.Ala119Val,ENST00000544518,;DRD2,missense_variant,p.Ala120Val,ENST00000362072,;DRD2,missense_variant,p.Ala120Val,ENST00000355319,;DRD2,missense_variant,p.Ala120Val,ENST00000346454,;DRD2,missense_variant,p.Ala120Val,ENST00000538967,;DRD2,non_coding_transcript_exon_variant,,ENST00000535984,;DRD2,non_coding_transcript_exon_variant,,ENST00000539420,;DRD2,non_coding_transcript_exon_variant,,ENST00000540600,;	704	63	56	SUCCESS
AMBRA1	55626	.	GRCh37	11	46456546	46456546	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	46	96	0	ENST00000458649.2:c.2674G>A	p.Asp892Asn	p.D892N	ENST00000458649		892	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31475.1	2404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCATTGT	NONE	.	.	Gene3D:2.130.10.10,hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874	.	.	ENSP00000318313	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000314845	Transcript	.	.	ENSG00000110497	25990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	deleterious(0)	.	AMRA1_HUMAN	AMBRA1	HGNC	E9PL55_HUMAN	.	UPI0000237851	SNV	AMBRA1,missense_variant,p.Asp863Asn,ENST00000426438,;AMBRA1,missense_variant,p.Asp832Asn,ENST00000298834,;AMBRA1,missense_variant,p.Asp832Asn,ENST00000534300,;AMBRA1,missense_variant,p.Asp773Asn,ENST00000533727,;AMBRA1,missense_variant,p.Asp863Asn,ENST00000528950,;AMBRA1,missense_variant,p.Asp802Asn,ENST00000314845,;AMBRA1,missense_variant,p.Asp892Asn,ENST00000458649,;AMBRA1,non_coding_transcript_exon_variant,,ENST00000529553,;	2764	96	96	SUCCESS
PIDD	0	.	GRCh37	11	802041	802041	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs554590814	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	81	0	ENST00000347755.5:c.1226G>A	p.Arg409His	p.R409H	ENST00000347755	NM_145886.3	409	cGt/cAt	0	.	T:0	.	T:0.0014	.	T	R/H	protein_coding	YES	CCDS7716.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACGGCAG	NONE	by1000G	.	PROSITE_profiles:PS51145,Pfam_domain:PF00791	T:0	.	ENSP00000337797	T:0	7/16	.	.	.	.	.	.	.	.	rs554590814	7/16	PASS	ENST00000347755	Transcript	.	T:0.0002	ENSG00000177595	16491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	T:0	tolerated(0.1)	.	PIDD_HUMAN	PIDD	HGNC	.	.	UPI000045644A	SNV	PIDD,missense_variant,p.Arg409His,ENST00000347755,;PIDD,missense_variant,p.Arg409His,ENST00000411829,;SLC25A22,upstream_gene_variant,,ENST00000532484,;SLC25A22,upstream_gene_variant,,ENST00000531214,;SLC25A22,upstream_gene_variant,,ENST00000531514,;SLC25A22,upstream_gene_variant,,ENST00000531437,;PIDD,non_coding_transcript_exon_variant,,ENST00000527812,;PIDD,downstream_gene_variant,,ENST00000528122,;PIDD,downstream_gene_variant,,ENST00000530911,;PIDD,downstream_gene_variant,,ENST00000534649,;PIDD,missense_variant,p.Arg126His,ENST00000531286,;PIDD,3_prime_UTR_variant,,ENST00000525028,;PIDD,3_prime_UTR_variant,,ENST00000524486,;PIDD,non_coding_transcript_exon_variant,,ENST00000534525,;PIDD,non_coding_transcript_exon_variant,,ENST00000527357,;SLC25A22,upstream_gene_variant,,ENST00000529351,;	1368	81	63	SUCCESS
FOLR4	0	.	GRCh37	11	94040366	94040366	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	46	106	0	ENST00000440961.2:c.363T>C	p.Asn121=	p.N121=	ENST00000440961	NM_001199206.1	121	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	.	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAATGTGCC	NONE	.	.	hmmpanther:PTHR10517:SF10,hmmpanther:PTHR10517,Pfam_domain:PF03024	.	.	ENSP00000416935	.	3/4	.	.	.	.	.	.	.	.	COSM86659	3/4	PASS	ENST00000440961	Transcript	.	.	ENSG00000183560	32565	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FOLR4_HUMAN	FOLR4	HGNC	.	.	UPI00003E58FA	SNV	FOLR4,synonymous_variant,p.%3D,ENST00000328458,;FOLR4,synonymous_variant,p.%3D,ENST00000440961,;	407	106	95	SUCCESS
ACACB	32	.	GRCh37	12	109692040	109692040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	49	122	0	ENST00000338432.7:c.6067A>G	p.Ile2023Val	p.I2023V	ENST00000338432		2023	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31898.1	6067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTATCATC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50989,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Gene3D:3.90.226.10,Pfam_domain:PF01039,Superfamily_domains:SSF52096	.	.	ENSP00000341044	.	44/53	.	.	.	.	.	.	.	.	.	44/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.3)	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,missense_variant,p.Ile1953Val,ENST00000377854,;ACACB,missense_variant,p.Ile689Val,ENST00000543201,;ACACB,missense_variant,p.Ile2023Val,ENST00000377848,;ACACB,missense_variant,p.Ile2023Val,ENST00000338432,;ACACB,missense_variant,p.Ile690Val,ENST00000538526,;ACACB,downstream_gene_variant,,ENST00000536440,;ACACB,downstream_gene_variant,,ENST00000396233,;	6186	122	62	SUCCESS
TARBP2	6895	.	GRCh37	12	53899546	53899546	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	20	64	0	ENST00000266987.2:c.855C>G	p.Gly285=	p.G285=	ENST00000266987	NM_134323.1	285	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS8861.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCTCCCT	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_03034,hmmpanther:PTHR10910:SF61,hmmpanther:PTHR10910	.	.	ENSP00000266987	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000266987	Transcript	.	.	ENSG00000139546	11569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRBP2_HUMAN	TARBP2	HGNC	H3BV98_HUMAN	.	UPI0000071D96	SNV	TARBP2,missense_variant,p.Leu152Val,ENST00000552857,;TARBP2,missense_variant,p.Leu214Val,ENST00000550407,;TARBP2,synonymous_variant,p.%3D,ENST00000394357,;TARBP2,synonymous_variant,p.%3D,ENST00000456234,;TARBP2,synonymous_variant,p.%3D,ENST00000266987,;TARBP2,downstream_gene_variant,,ENST00000552817,;ATF7,downstream_gene_variant,,ENST00000548446,;RP11-793H13.10,downstream_gene_variant,,ENST00000591834,;NPFF,downstream_gene_variant,,ENST00000609999,;NPFF,downstream_gene_variant,,ENST00000267017,;RP11-793H13.11,upstream_gene_variant,,ENST00000602306,;TARBP2,downstream_gene_variant,,ENST00000549028,;TARBP2,3_prime_UTR_variant,,ENST00000549572,;TARBP2,3_prime_UTR_variant,,ENST00000550147,;TARBP2,3_prime_UTR_variant,,ENST00000547064,;TARBP2,3_prime_UTR_variant,,ENST00000549679,;TARBP2,3_prime_UTR_variant,,ENST00000548971,;TARBP2,3_prime_UTR_variant,,ENST00000551741,;TARBP2,downstream_gene_variant,,ENST00000551157,;TARBP2,downstream_gene_variant,,ENST00000547541,;RP11-793H13.10,downstream_gene_variant,,ENST00000448979,;TARBP2,downstream_gene_variant,,ENST00000552650,;TARBP2,downstream_gene_variant,,ENST00000546889,;TARBP2,downstream_gene_variant,,ENST00000549610,;TARBP2,downstream_gene_variant,,ENST00000547388,;TARBP2,downstream_gene_variant,,ENST00000546763,;	1338	64	24	SUCCESS
RPGRIP1	57096	.	GRCh37	14	21769132	21769132	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	118	0	ENST00000400017.2:c.226A>T	p.Thr76Ser	p.T76S	ENST00000400017	NM_020366.3	76	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS45080.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGACCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3	.	.	ENSP00000382895	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000400017	Transcript	.	.	ENSG00000092200	13436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	tolerated(0.06)	.	RPGR1_HUMAN	RPGRIP1	HGNC	.	.	UPI0000071B81	SNV	RPGRIP1,missense_variant,p.Thr76Ser,ENST00000400017,;RPGRIP1,missense_variant,p.Thr76Ser,ENST00000556336,;RPGRIP1,missense_variant,p.Thr76Ser,ENST00000557771,;RPGRIP1,missense_variant,p.Thr76Ser,ENST00000206660,;RPGRIP1,upstream_gene_variant,,ENST00000554750,;	226	118	80	SUCCESS
CHD8	57680	.	GRCh37	14	21896309	21896309	+	synonymous_variant	Silent	SNP	C	C	T	rs898418482	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	116	0	ENST00000399982.2:c.1320G>A	p.Ser440=	p.S440=	ENST00000399982	NM_001170629.1	440	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS53885.1	1320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCGAATG	NONE	.	.	hmmpanther:PTHR10799:SF551,hmmpanther:PTHR10799	.	.	ENSP00000382863	.	3/37	.	.	.	.	.	.	.	.	.	3/37	PASS	ENST00000399982	Transcript	.	.	ENSG00000100888	20153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD8_HUMAN	CHD8	HGNC	.	.	UPI00002375B9	SNV	CHD8,synonymous_variant,p.%3D,ENST00000557364,;CHD8,synonymous_variant,p.%3D,ENST00000430710,;CHD8,synonymous_variant,p.%3D,ENST00000399982,;CHD8,downstream_gene_variant,,ENST00000553283,;CHD8,downstream_gene_variant,,ENST00000553622,;RN7SL650P,downstream_gene_variant,,ENST00000583681,;CHD8,intron_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,downstream_gene_variant,,ENST00000553651,;	1385	116	86	SUCCESS
FOXG1	2290	.	GRCh37	14	29236691	29236691	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs727503933	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	138	1	ENST00000313071.4:c.206C>A	p.Pro69Gln	p.P69Q	ENST00000313071	NM_005249.4	69	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS9636.1	206	MUTECT|MUSE	uncertain_significance	GCCGCCGCAGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042,Superfamily_domains:SSF81995	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	rs727503933	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,missense_variant,p.Pro69Gln,ENST00000313071,;FOXG1,missense_variant,p.Pro69Gln,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	575	139	96	SUCCESS
NRXN3	9369	.	GRCh37	14	79434578	79434578	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	58	113	0	ENST00000554719.1:c.1912T>A	p.Ser638Thr	p.S638T	ENST00000554719	NM_004796.5	638	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS9870.1	1912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTCTCGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0)	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Ser638Thr,ENST00000554719,;NRXN3,missense_variant,p.Ser638Thr,ENST00000335750,;NRXN3,missense_variant,p.Ser1000Thr,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	2403	113	92	SUCCESS
SERPINA5	5104	.	GRCh37	14	95053895	95053895	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	47	90	0	ENST00000329597.7:c.196T>G	p.Phe66Val	p.F66V	ENST00000329597	NM_000624.5	66	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS9928.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCTTCTTC	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF41	.	.	ENSP00000333203	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000329597	Transcript	.	.	ENSG00000188488	8723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.484)	.	tolerated(0.08)	.	IPSP_HUMAN	SERPINA5	HGNC	G3V4B4_HUMAN,G3V482_HUMAN,G3V3Y3_HUMAN,G3V3F5_HUMAN,G3V2M1_HUMAN,G3V265_HUMAN,G3V264_HUMAN	.	UPI000013E52C	SNV	SERPINA5,missense_variant,p.Phe66Val,ENST00000556775,;SERPINA5,missense_variant,p.Phe66Val,ENST00000554220,;SERPINA5,missense_variant,p.Phe66Val,ENST00000554866,;SERPINA5,missense_variant,p.Phe66Val,ENST00000555681,;SERPINA5,missense_variant,p.Phe66Val,ENST00000553511,;SERPINA5,missense_variant,p.Phe66Val,ENST00000554760,;SERPINA5,missense_variant,p.Phe66Val,ENST00000553780,;SERPINA5,missense_variant,p.Phe66Val,ENST00000554633,;SERPINA5,missense_variant,p.Phe66Val,ENST00000329597,;SERPINA5,missense_variant,p.Phe66Val,ENST00000557598,;SERPINA5,missense_variant,p.Phe66Val,ENST00000554276,;SERPINA5,downstream_gene_variant,,ENST00000556064,;SERPINA5,non_coding_transcript_exon_variant,,ENST00000556730,;RP11-986E7.7,upstream_gene_variant,,ENST00000553947,;	406	90	78	SUCCESS
ARHGAP11A	9824	.	GRCh37	15	32925232	32925232	+	synonymous_variant	Silent	SNP	A	A	G	rs764281924	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	66	124	0	ENST00000361627.3:c.1158A>G	p.Val386=	p.V386=	ENST00000361627	NM_014783.3	386	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS10028.1	1158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTACTCAT	NONE	byFrequency	.	hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670	.	.	ENSP00000355090	.	9/12	.	.	.	.	.	.	.	.	rs764281924	9/12	PASS	ENST00000361627	Transcript	.	.	ENSG00000198826	15783	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHGBA_HUMAN	ARHGAP11A	HGNC	B4DZN9_HUMAN	.	UPI0000071553	SNV	ARHGAP11A,synonymous_variant,p.%3D,ENST00000567348,;ARHGAP11A,synonymous_variant,p.%3D,ENST00000361627,;ARHGAP11A,synonymous_variant,p.%3D,ENST00000565905,;ARHGAP11A,synonymous_variant,p.%3D,ENST00000562481,;ARHGAP11A,synonymous_variant,p.%3D,ENST00000543522,;ARHGAP11A,intron_variant,,ENST00000563864,;ARHGAP11A,non_coding_transcript_exon_variant,,ENST00000564918,;	1880	124	144	SUCCESS
TLN2	83660	.	GRCh37	15	62990037	62990037	+	synonymous_variant	Silent	SNP	G	G	T	rs755286090	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	103	0	ENST00000306829.6:c.1443G>T	p.Gly481=	p.G481=	ENST00000306829	NM_015059.2	481	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32261.1	1443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGGCAGAT	NONE	.	.	hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	14/58	.	.	.	.	.	.	.	.	rs755286090	14/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,synonymous_variant,p.%3D,ENST00000561311,;TLN2,synonymous_variant,p.%3D,ENST00000306829,;	1673	103	75	SUCCESS
IGDCC4	57722	.	GRCh37	15	65689263	65689263	+	synonymous_variant	Silent	SNP	C	C	T	rs746266802	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	62	120	0	ENST00000352385.2:c.906G>A	p.Ala302=	p.A302=	ENST00000352385	NM_020962.1	302	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10206.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCGCGTT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000319623	.	6/20	.	.	.	.	.	.	.	.	rs746266802	6/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,synonymous_variant,p.%3D,ENST00000352385,;IGDCC4,upstream_gene_variant,,ENST00000559327,;	1116	120	116	SUCCESS
IL21R	50615	.	GRCh37	16	27460420	27460420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201496200	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	37	90	0	ENST00000337929.3:c.1433C>T	p.Ala478Val	p.A478V	ENST00000337929	NM_181078.2	478	gCg/gTg	0	T:0	T:0.0008	.	T:0	.	T	A/V	protein_coding	YES	CCDS10630.1	1433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCGGGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	T:0	T:0.0001	ENSP00000338010	T:0	9/9	.	.	.	.	.	.	.	.	rs201496200,COSM1377016	9/9	PASS	ENST00000337929	Transcript	.	T:0.0002	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.286)	T:0	tolerated(0.16)	0,1	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.Ala478Val,ENST00000395755,;IL21R,missense_variant,p.Ala478Val,ENST00000564089,;IL21R,missense_variant,p.Ala478Val,ENST00000395754,;IL21R,missense_variant,p.Ala478Val,ENST00000337929,;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	1906	90	39	SUCCESS
AXIN1	8312	.	GRCh37	16	360038	360038	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	35	75	0	ENST00000262320.3:c.1051C>T	p.Gln351Ter	p.Q351*	ENST00000262320	NM_003502.3	351	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS10405.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGCTTAC	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Gln351Ter,ENST00000262320,;AXIN1,stop_gained,p.Gln351Ter,ENST00000354866,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1423	75	42	SUCCESS
SERPINF1	5176	.	GRCh37	17	1678371	1678371	+	synonymous_variant	Silent	SNP	T	T	C	rs767940756	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	32	97	0	ENST00000254722.4:c.663T>C	p.Phe221=	p.F221=	ENST00000254722	NM_002615.5	221	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS11012.1	663	RADIA|MUTECT|MUSE	.	AAGTTTGACTC	NONE	.	.	hmmpanther:PTHR11461:SF84,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000254722	.	6/8	.	.	.	.	.	.	.	.	rs767940756	6/8	PASS	ENST00000254722	Transcript	.	.	ENSG00000132386	8824	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEDF_HUMAN	SERPINF1	HGNC	I3L4F9_HUMAN,I3L425_HUMAN,I3L3Z3_HUMAN,I3L2R7_HUMAN,I3L107_HUMAN	.	UPI000013CE56	SNV	SERPINF1,synonymous_variant,p.%3D,ENST00000572048,;SERPINF1,synonymous_variant,p.%3D,ENST00000254722,;SERPINF1,synonymous_variant,p.%3D,ENST00000576406,;SERPINF1,synonymous_variant,p.%3D,ENST00000573763,;SERPINF1,downstream_gene_variant,,ENST00000571360,;SERPINF1,downstream_gene_variant,,ENST00000570731,;SERPINF1,downstream_gene_variant,,ENST00000577053,;SMYD4,downstream_gene_variant,,ENST00000305513,;SERPINF1,downstream_gene_variant,,ENST00000571870,;SERPINF1,upstream_gene_variant,,ENST00000572517,;SERPINF1,downstream_gene_variant,,ENST00000570820,;SERPINF1,downstream_gene_variant,,ENST00000573770,;	826	97	39	SUCCESS
PLCD3	113026	.	GRCh37	17	43190626	43190626	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1350355898	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	47	0	ENST00000322765.5:c.1993-1G>A		p.X665_splice	ENST00000322765	NM_133373.3	665		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCTGTGG	NONE	.	.	.	.	.	ENSP00000313731	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322765	Transcript	.	.	ENSG00000161714	9061	.	.	HIGH	13/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCD3_HUMAN	PLCD3	HGNC	.	.	UPI00015DFB4E	SNV	PLCD3,splice_acceptor_variant,,ENST00000539433,;PLCD3,splice_acceptor_variant,,ENST00000322765,;NMT1,downstream_gene_variant,,ENST00000592782,;NMT1,downstream_gene_variant,,ENST00000258960,;PLCD3,splice_acceptor_variant,,ENST00000540511,;PLCD3,splice_acceptor_variant,,ENST00000543623,;NMT1,downstream_gene_variant,,ENST00000587120,;PLCD3,downstream_gene_variant,,ENST00000545702,;PLCD3,downstream_gene_variant,,ENST00000544333,;PLCD3,downstream_gene_variant,,ENST00000546350,;PLCD3,downstream_gene_variant,,ENST00000542173,;PLCD3,downstream_gene_variant,,ENST00000412978,;	.	47	39	SUCCESS
SCRN2	90507	.	GRCh37	17	45915690	45915690	+	synonymous_variant	Silent	SNP	C	C	T	rs1257374752	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	123	0	ENST00000290216.9:c.1065G>A	p.Arg355=	p.R355=	ENST00000290216	NM_001145023.1	355	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11519.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGCCGACG	BUFFER|p.R354H|c.1061G>A|3	.	.	hmmpanther:PTHR12994:SF16,hmmpanther:PTHR12994	.	.	ENSP00000290216	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000290216	Transcript	.	.	ENSG00000141295	30381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRN2_HUMAN	SCRN2	HGNC	J3QR84_HUMAN	.	UPI000013DFCB	SNV	SCRN2,synonymous_variant,p.%3D,ENST00000407215,;SCRN2,synonymous_variant,p.%3D,ENST00000584123,;SCRN2,synonymous_variant,p.%3D,ENST00000290216,;SCRN2,intron_variant,,ENST00000584567,;LRRC46,downstream_gene_variant,,ENST00000269025,;SCRN2,downstream_gene_variant,,ENST00000578323,;SCRN2,3_prime_UTR_variant,,ENST00000582459,;SCRN2,3_prime_UTR_variant,,ENST00000581645,;SCRN2,3_prime_UTR_variant,,ENST00000579856,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,downstream_gene_variant,,ENST00000578840,;SCRN2,downstream_gene_variant,,ENST00000583090,;LRRC46,downstream_gene_variant,,ENST00000584809,;SCRN2,downstream_gene_variant,,ENST00000581546,;LRRC46,downstream_gene_variant,,ENST00000584580,;SCRN2,downstream_gene_variant,,ENST00000582656,;LRRC46,downstream_gene_variant,,ENST00000579971,;SCRN2,downstream_gene_variant,,ENST00000580428,;	1191	123	114	SUCCESS
DGKE	8526	.	GRCh37	17	54923060	54923060	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	70	182	0	ENST00000284061.3:c.634A>G	p.Lys212Glu	p.K212E	ENST00000284061	NM_003647.2	212	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11590.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTAAGCTT	NONE	.	.	hmmpanther:PTHR11255:SF39,hmmpanther:PTHR11255	.	.	ENSP00000284061	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000284061	Transcript	.	.	ENSG00000153933	2852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.29)	.	DGKE_HUMAN	DGKE	HGNC	A1L4Q0_HUMAN	.	UPI000012DD1F	SNV	DGKE,missense_variant,p.Lys156Glu,ENST00000572944,;DGKE,missense_variant,p.Lys212Glu,ENST00000284061,;DGKE,non_coding_transcript_exon_variant,,ENST00000576869,;DGKE,non_coding_transcript_exon_variant,,ENST00000571084,;	814	183	157	SUCCESS
TP53	7157	.	GRCh37	17	7578268	7578268	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1057519998	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	98	171	1	ENST00000269305.4:c.581T>G	p.Leu194Arg	p.L194R	ENST00000269305	NM_001126112.2	194	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS11118.1	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATAAGATGC	SITE|p.L62R|c.185T>G|17,SITE|p.L194R|c.581T>G|50,SITE|p.L194R|c.581T>G|11,SITE|p.L101R|c.302T>G|17,SITE|p.L194R|c.581T>G|9,SITE|p.L194R|c.581T>G|17,SITE|p.L194R|c.581T>G|17,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.L194L|c.582T>C|3,CODON|p.L194H|c.581T>A|6,CODON|p.L194P|c.581T>C|9,BUFFER|p.E198*|c.592G>T|5,BUFFER|p.E198K|c.592G>A|5,BUFFER|p.E198*|c.592G>T|4,BUFFER|p.E105*|c.313G>T|9,BUFFER|p.E198*|c.592G>T|27,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.E66*|c.196G>T|9,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.V197G|c.590T>G|15,BUFFER|p.V197E|c.590T>A|8,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12650T>A,TP53_g.12650del,TP53_g.12650T>C,TP53_g.12650T>G,COSM44571,COSM43827,COSM45205,COSM43623,COSM169019,COSM117650,COSM437525,COSM117647,COSM169018,COSM437526,COSM117648,COSM169020,COSM437528,COSM3675532,COSM3403268,COSM1649391,COSM3675531,COSM117649,COSM437527,COSM169021	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Leu194Arg,ENST00000413465,;TP53,missense_variant,p.Leu194Arg,ENST00000420246,;TP53,missense_variant,p.Leu194Arg,ENST00000269305,;TP53,missense_variant,p.Leu62Arg,ENST00000509690,;TP53,missense_variant,p.Leu194Arg,ENST00000359597,;TP53,missense_variant,p.Leu101Arg,ENST00000514944,;TP53,missense_variant,p.Leu194Arg,ENST00000445888,;TP53,missense_variant,p.Leu194Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	771	172	109	SUCCESS
DNAH17	8632	.	GRCh37	17	76456336	76456336	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754934381	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	22	46	0	ENST00000389840.5:c.9301G>A	p.Val3101Ile	p.V3101I	ENST00000389840		3101	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	.	9301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACGTTCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000374490	.	59/81	.	.	.	.	.	.	.	.	rs754934381,COSM2746053,COSM3970401	59/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.38)	.	.	0,1,1	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Val3110Ile,ENST00000585328,;DNAH17,missense_variant,p.Val3101Ile,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,upstream_gene_variant,,ENST00000592152,;DNAH17,missense_variant,p.Val316Ile,ENST00000591369,;	9426	46	35	SUCCESS
DNAH2	146754	.	GRCh37	17	7720679	7720679	+	synonymous_variant	Silent	SNP	A	A	G	rs375895814	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	24	44	0	ENST00000389173.2:c.9966A>G	p.Gly3322=	p.G3322=	ENST00000389173	NM_020877.2	3322	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32551.1	9966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGACCCTT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12777	.	.	ENSP00000458355	.	65/86	.	.	.	.	.	.	.	.	rs375895814,COSM291013	65/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,synonymous_variant,p.%3D,ENST00000575105,;	11426	44	28	SUCCESS
DCC	1630	.	GRCh37	18	50731599	50731599	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	82	0	ENST00000442544.2:c.1587G>C	p.Gly529=	p.G529=	ENST00000442544	NM_005215.3	529	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11952.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGCCAGT	NONE	.	.	hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,synonymous_variant,p.%3D,ENST00000581580,;DCC,synonymous_variant,p.%3D,ENST00000442544,;DCC,synonymous_variant,p.%3D,ENST00000412726,;DCC,synonymous_variant,p.%3D,ENST00000304775,;	2203	82	100	SUCCESS
TNFRSF11A	8792	.	GRCh37	18	60028929	60028929	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	71	160	0	ENST00000586569.1:c.633G>A	p.Leu211=	p.L211=	ENST00000586569	NM_001278268.1	211	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11980.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTGCCCGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23097:SF29,hmmpanther:PTHR23097,Prints_domain:PR01974	.	.	ENSP00000465500	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000586569	Transcript	.	.	ENSG00000141655	11908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR11_HUMAN	TNFRSF11A	HGNC	N0GVH0_HUMAN	.	UPI000003BC8A	SNV	TNFRSF11A,synonymous_variant,p.%3D,ENST00000586569,;TNFRSF11A,intron_variant,,ENST00000269485,;TNFRSF11A,downstream_gene_variant,,ENST00000587697,;	671	160	152	SUCCESS
ZNF793	390927	.	GRCh37	19	38024289	38024289	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs370904763	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	55	130	0	ENST00000445217.1:c.224del	p.Gly75AlafsTer23	p.G75Afs*23	ENST00000445217		74	ccG/cc	0	A:0.0003	A:0.0008	.	A:0	.	-	P/X	protein_coding	YES	CCDS46062.1	222	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCCCGGGCTG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42	A:0	A:0	ENSP00000396402	A:0	3/4	.	.	.	.	.	.	.	.	rs370904763,COSM1525504	3/4	PASS	ENST00000445217	Transcript	.	A:0.0002	ENSG00000188227	33115	2	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0	.	0,1	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	deletion	ZNF793,frameshift_variant,p.Gly75AlafsTer23,ENST00000587143,;ZNF793,frameshift_variant,p.Gly75AlafsTer23,ENST00000542455,;ZNF793,frameshift_variant,p.Gly68AlafsTer7,ENST00000587490,;ZNF793,frameshift_variant,p.Gly75AlafsTer23,ENST00000589319,;ZNF793,frameshift_variant,p.Gly75AlafsTer21,ENST00000588578,;ZNF793,frameshift_variant,p.Gly75AlafsTer44,ENST00000587986,;ZNF793,frameshift_variant,p.Gly75AlafsTer23,ENST00000445217,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,frameshift_variant,p.Gly28AlafsTer50,ENST00000586187,;	257	130	180	SUCCESS
ZNF765	91661	.	GRCh37	19	53911921	53911921	+	synonymous_variant	Silent	SNP	A	A	G	rs754007672	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	44	113	0	ENST00000396408.3:c.1113A>G	p.Thr371=	p.T371=	ENST00000396408	NM_001040185.1	371	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS46171.1	1113	RADIA|MUTECT|MUSE	.	TTTACATGCCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379689	.	4/4	.	.	.	.	.	.	.	.	rs754007672	4/4	PASS	ENST00000396408	Transcript	.	.	ENSG00000196417	25092	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN765_HUMAN	ZNF765	HGNC	D6RF03_HUMAN	.	UPI000040C508	SNV	ZNF765,synonymous_variant,p.%3D,ENST00000396408,;ZNF765,intron_variant,,ENST00000594030,;ZNF765,downstream_gene_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,intron_variant,,ENST00000507045,;ZNF765,intron_variant,,ENST00000504235,;RPL39P36,upstream_gene_variant,,ENST00000490784,;	1230	113	119	SUCCESS
EMR1	0	.	GRCh37	19	6896547	6896547	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	47	99	0	ENST00000312053.4:c.233G>A	p.Cys78Tyr	p.C78Y	ENST00000312053	NM_001974.4	78	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS12175.1	233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATGCAAAG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207	.	.	ENSP00000311545	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000312053	Transcript	.	.	ENSG00000174837	3336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	EMR1_HUMAN	EMR1	HGNC	.	.	UPI0000203241	SNV	EMR1,missense_variant,p.Cys78Tyr,ENST00000381404,;EMR1,missense_variant,p.Cys78Tyr,ENST00000450315,;EMR1,missense_variant,p.Cys78Tyr,ENST00000312053,;EMR1,missense_variant,p.Cys78Tyr,ENST00000381407,;EMR1,missense_variant,p.Cys78Tyr,ENST00000250572,;EMR1,missense_variant,p.Cys44Tyr,ENST00000595026,;AC020895.1,downstream_gene_variant,,ENST00000580648,;EMR1,non_coding_transcript_exon_variant,,ENST00000601198,;EMR1,non_coding_transcript_exon_variant,,ENST00000596944,;CTC-312O10.2,upstream_gene_variant,,ENST00000595362,;	270	99	100	SUCCESS
PCP2	126006	.	GRCh37	19	7697616	7697616	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	41	0	ENST00000311069.5:c.152A>T	p.Gln51Leu	p.Q51L	ENST00000311069	NM_174895.2	51	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32893.1	152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCTGGCCC	NONE	.	.	hmmpanther:PTHR10098	.	.	ENSP00000310585	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000311069	Transcript	.	.	ENSG00000174788	30209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.1)	.	PCP2_HUMAN	PCP2	HGNC	.	.	UPI00001611BB	SNV	PCP2,missense_variant,p.Gln51Leu,ENST00000311069,;PCP2,missense_variant,p.Gln35Leu,ENST00000598935,;STXBP2,upstream_gene_variant,,ENST00000441779,;STXBP2,upstream_gene_variant,,ENST00000593535,;STXBP2,upstream_gene_variant,,ENST00000595950,;PET100,downstream_gene_variant,,ENST00000594797,;PET100,downstream_gene_variant,,ENST00000456958,;STXBP2,upstream_gene_variant,,ENST00000414284,;PET100,downstream_gene_variant,,ENST00000601406,;XAB2,upstream_gene_variant,,ENST00000358368,;STXBP2,upstream_gene_variant,,ENST00000221283,;XAB2,upstream_gene_variant,,ENST00000534844,;CTD-3214H19.6,downstream_gene_variant,,ENST00000601797,;CTD-3214H19.4,intron_variant,,ENST00000598664,;CTD-3214H19.4,intron_variant,,ENST00000599243,;CTD-3214H19.4,intron_variant,,ENST00000595866,;STXBP2,upstream_gene_variant,,ENST00000595181,;PET100,downstream_gene_variant,,ENST00000601829,;XAB2,upstream_gene_variant,,ENST00000595288,;PET100,downstream_gene_variant,,ENST00000598540,;PET100,downstream_gene_variant,,ENST00000600836,;STXBP2,upstream_gene_variant,,ENST00000599905,;STXBP2,upstream_gene_variant,,ENST00000597068,;STXBP2,upstream_gene_variant,,ENST00000597467,;	443	41	30	SUCCESS
PTBP1	5725	.	GRCh37	19	804891	804891	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	96	0	ENST00000349038.4:c.669G>A	p.Gln223=	p.Q223=	ENST00000349038	NM_031991.3	223	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS42456.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGCCCT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF17,Pfam_domain:PF13893,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01649,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000349428	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000356948	Transcript	.	.	ENSG00000011304	9583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTBP1_HUMAN	PTBP1	HGNC	.	.	UPI00000720B7	SNV	PTBP1,synonymous_variant,p.%3D,ENST00000349038,;PTBP1,synonymous_variant,p.%3D,ENST00000585956,;PTBP1,synonymous_variant,p.%3D,ENST00000589575,;PTBP1,synonymous_variant,p.%3D,ENST00000586481,;PTBP1,synonymous_variant,p.%3D,ENST00000394601,;PTBP1,synonymous_variant,p.%3D,ENST00000356948,;PTBP1,intron_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000585535,;PTBP1,downstream_gene_variant,,ENST00000587094,;MIR4745,upstream_gene_variant,,ENST00000577608,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000592113,;PTBP1,non_coding_transcript_exon_variant,,ENST00000587136,;PTBP1,intron_variant,,ENST00000587191,;PTBP1,upstream_gene_variant,,ENST00000585932,;PTBP1,upstream_gene_variant,,ENST00000589569,;PTBP1,upstream_gene_variant,,ENST00000589883,;PTBP1,upstream_gene_variant,,ENST00000592804,;PTBP1,upstream_gene_variant,,ENST00000589770,;PTBP1,upstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000590887,;	1092	96	66	SUCCESS
OLFM2	93145	.	GRCh37	19	9968430	9968430	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	56	97	0	ENST00000264833.4:c.321C>T	p.Leu107=	p.L107=	ENST00000264833	NM_058164.2	107	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12221.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGAGCCG	NONE	.	.	hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF27,Pfam_domain:PF12308	.	.	ENSP00000264833	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000264833	Transcript	.	.	ENSG00000105088	17189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOE2_HUMAN	OLFM2	HGNC	K7EIS8_HUMAN	.	UPI000013D57B	SNV	OLFM2,synonymous_variant,p.%3D,ENST00000264833,;OLFM2,synonymous_variant,p.%3D,ENST00000593091,;OLFM2,synonymous_variant,p.%3D,ENST00000590841,;OLFM2,synonymous_variant,p.%3D,ENST00000592448,;OLFM2,non_coding_transcript_exon_variant,,ENST00000590410,;	507	97	111	SUCCESS
COL11A1	1301	.	GRCh37	1	103348775	103348775	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776122573	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	44	79	0	ENST00000370096.3:c.4951C>T	p.Pro1651Ser	p.P1651S	ENST00000370096	NM_001854.3	1651	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS778.1	4951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGATAAA	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01410,SMART_domains:SM00038	.	.	ENSP00000359114	.	64/67	.	.	.	.	.	.	.	.	rs776122573	64/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Pro1535Ser,ENST00000512756,;COL11A1,missense_variant,p.Pro1612Ser,ENST00000353414,;COL11A1,missense_variant,p.Pro1651Ser,ENST00000370096,;COL11A1,missense_variant,p.Pro1663Ser,ENST00000358392,;COL11A1,upstream_gene_variant,,ENST00000470170,;	5264	79	85	SUCCESS
IVL	3713	.	GRCh37	1	152883756	152883756	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	133	0	ENST00000368764.3:c.1483C>T	p.Gln495Ter	p.Q495*	ENST00000368764		495	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS1030.1	1483	RADIA|MUTECT|MUSE	.	CAGAGCAGCAG	NONE	.	.	hmmpanther:PTHR13905,Pfam_domain:PF00904	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,stop_gained,p.Gln495Ter,ENST00000368764,;IVL,stop_gained,p.Gln349Ter,ENST00000392667,;	1547	133	113	SUCCESS
ATP8B2	57198	.	GRCh37	1	154306627	154306627	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	40	122	0	ENST00000368489.3:c.733A>C	p.Ser245Arg	p.S245R	ENST00000368489	NM_020452.3	245	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS1066.1	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCAGCGGA	NONE	.	.	hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122	.	.	ENSP00000357475	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000368489	Transcript	.	.	ENSG00000143515	13534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	tolerated(0.15)	.	AT8B2_HUMAN	ATP8B2	HGNC	Q6P3T1_HUMAN	.	UPI00001B92AB	SNV	ATP8B2,missense_variant,p.Ser212Arg,ENST00000368487,;ATP8B2,missense_variant,p.Ser245Arg,ENST00000368489,;ATP8B2,missense_variant,p.Ser231Arg,ENST00000341822,;RNU7-57P,upstream_gene_variant,,ENST00000459540,;ATP8B2,non_coding_transcript_exon_variant,,ENST00000426445,;ATP8B2,downstream_gene_variant,,ENST00000368490,;ATP8B2,downstream_gene_variant,,ENST00000514107,;	733	122	114	SUCCESS
DNAJC16	23341	.	GRCh37	1	15888720	15888720	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	43	126	0	ENST00000375847.3:c.1238C>G	p.Thr413Ser	p.T413S	ENST00000375847	NM_015291.2	413	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS30606.1	1238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACTCAAG	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143	.	.	ENSP00000365007	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000375847	Transcript	.	.	ENSG00000116138	29157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.43)	.	DJC16_HUMAN	DNAJC16	HGNC	B3KMS3_HUMAN	.	UPI000000DBDB	SNV	DNAJC16,missense_variant,p.Thr413Ser,ENST00000375838,;DNAJC16,missense_variant,p.Thr413Ser,ENST00000375849,;DNAJC16,missense_variant,p.Thr413Ser,ENST00000375847,;RP4-680D5.8,downstream_gene_variant,,ENST00000606186,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000483270,;DNAJC16,upstream_gene_variant,,ENST00000490811,;DNAJC16,upstream_gene_variant,,ENST00000479655,;DNAJC16,missense_variant,p.Thr413Ser,ENST00000475133,;DNAJC16,upstream_gene_variant,,ENST00000472665,;	1402	126	119	SUCCESS
SLAMF1	6504	.	GRCh37	1	160616886	160616886	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	76	0	ENST00000302035.6:c.-151del		p.*51*	ENST00000302035	NM_003037.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1207.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCACTGGGACT	NONE	.	.	.	.	.	ENSP00000306190	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	deletion	SLAMF1,5_prime_UTR_variant,,ENST00000235739,;SLAMF1,5_prime_UTR_variant,,ENST00000355199,;SLAMF1,5_prime_UTR_variant,,ENST00000302035,;SLAMF1,upstream_gene_variant,,ENST00000538290,;SLAMF1,upstream_gene_variant,,ENST00000494463,;	200	76	88	SUCCESS
SPEN	23013	.	GRCh37	1	16199516	16199516	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1483388473	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	69	139	0	ENST00000375759.3:c.289A>G	p.Ile97Val	p.I97V	ENST00000375759	NM_015001.2	97	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS164.1	289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATAGCA	NONE	.	.	hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	.	.	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	SNV	SPEN,missense_variant,p.Ile97Val,ENST00000375759,;SPEN,upstream_gene_variant,,ENST00000442985,;SPEN,upstream_gene_variant,,ENST00000438066,;SPEN,upstream_gene_variant,,ENST00000471538,;	493	139	149	SUCCESS
PADI1	29943	.	GRCh37	1	17559395	17559395	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	70	0	ENST00000375471.4:c.1243A>T	p.Ser415Cys	p.S415C	ENST00000375471	NM_013358.2	415	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS178.1	1243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCAGCCCG	NONE	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364620	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,missense_variant,p.Ser415Cys,ENST00000375471,;PADI1,upstream_gene_variant,,ENST00000537499,;PADI1,upstream_gene_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000413717,;	1335	70	51	SUCCESS
OBSCN	84033	.	GRCh37	1	228475833	228475833	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776543643	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	63	127	0	ENST00000422127.1:c.9883T>C	p.Cys3295Arg	p.C3295R	ENST00000422127	NM_001098623.2	3295	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS59204.1	11170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGTGTGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	42/116	.	.	.	.	.	.	.	.	rs776543643	42/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Cys414Arg,ENST00000366707,;OBSCN,missense_variant,p.Cys414Arg,ENST00000366709,;OBSCN,missense_variant,p.Cys571Arg,ENST00000483539,;OBSCN,missense_variant,p.Cys3295Arg,ENST00000284548,;OBSCN,missense_variant,p.Cys2142Arg,ENST00000359599,;OBSCN,missense_variant,p.Cys3724Arg,ENST00000570156,;OBSCN,missense_variant,p.Cys3295Arg,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;	11244	127	120	SUCCESS
PCNXL2	0	.	GRCh37	1	233270849	233270849	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774914553	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	91	242	1	ENST00000258229.9:c.3747C>A	p.Ser1249Arg	p.S1249R	ENST00000258229	NM_014801.3	1249	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS44335.1	3747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGCTCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	21/34	.	.	.	.	.	.	.	.	rs774914553	21/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.35)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Ser85Arg,ENST00000484347,;PCNXL2,missense_variant,p.Ser382Arg,ENST00000488780,;PCNXL2,missense_variant,p.Ser1249Arg,ENST00000258229,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000520463,;PCNXL2,downstream_gene_variant,,ENST00000467336,;PCNXL2,downstream_gene_variant,,ENST00000496510,;PCNXL2,missense_variant,p.Ser71Arg,ENST00000490102,;PCNXL2,missense_variant,p.Ser271Arg,ENST00000462233,;PCNXL2,3_prime_UTR_variant,,ENST00000486012,;PCNXL2,3_prime_UTR_variant,,ENST00000475463,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000484041,;	3982	243	213	SUCCESS
LRRC8C	84230	.	GRCh37	1	90178412	90178412	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	216	14	205	0	ENST00000370454.4:c.283G>A	p.Glu95Lys	p.E95K	ENST00000370454	NM_032270.4	95	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS725.1	283	MUTECT|MUSE	.	CTGTGGAAATG	NONE	.	.	.	.	.	ENSP00000359483	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370454	Transcript	.	.	ENSG00000171488	25075	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.505)	.	tolerated(0.1)	.	LRC8C_HUMAN	LRRC8C	HGNC	.	.	UPI000013E814	SNV	LRRC8C,missense_variant,p.Glu95Lys,ENST00000370454,;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,;	538	205	231	SUCCESS
NINL	22981	.	GRCh37	20	25459756	25459756	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	42	45	0	ENST00000278886.6:c.2004G>A	p.Glu668=	p.E668=	ENST00000278886	NM_025176.4	668	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS33452.1	2004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCTCGCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12	.	.	ENSP00000278886	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000278886	Transcript	.	.	ENSG00000101004	29163	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NINL_HUMAN	NINL	HGNC	.	.	UPI0000206B64	SNV	NINL,synonymous_variant,p.%3D,ENST00000422516,;NINL,synonymous_variant,p.%3D,ENST00000278886,;NINL,upstream_gene_variant,,ENST00000336104,;NINL,downstream_gene_variant,,ENST00000489780,;	2078	45	80	SUCCESS
DEFB123	245936	.	GRCh37	20	30037860	30037860	+	synonymous_variant	Silent	SNP	T	T	C	rs377702716	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	81	0	ENST00000376309.3:c.87T>C	p.Tyr29=	p.Y29=	ENST00000376309	NM_153324.2	29	taT/taC	0	C:0.0002	.	.	.	.	C	Y	protein_coding	YES	CCDS13180.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATGGCAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF3,Pfam_domain:PF13841	.	C:0	ENSP00000365486	.	2/2	.	.	.	.	.	.	.	.	rs377702716,COSM576831,COSM477981	2/2	PASS	ENST00000376309	Transcript	.	.	ENSG00000180424	18103	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	DB123_HUMAN	DEFB123	HGNC	Q5GRF8_HUMAN	.	UPI0000128D96	SNV	DEFB123,synonymous_variant,p.%3D,ENST00000376309,;	267	81	95	SUCCESS
COL18A1	80781	.	GRCh37	21	46888354	46888354	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	82	0	ENST00000359759.4:c.1550C>T	p.Thr517Ile	p.T517I	ENST00000359759		517	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS42972.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACAGAGG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390,Pfam_domain:PF13385,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000347665	.	2/41	.	.	.	.	.	.	.	.	.	2/41	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	SNV	COL18A1,missense_variant,p.Thr517Ile,ENST00000359759,;COL18A1,missense_variant,p.Thr282Ile,ENST00000355480,;COL18A1,missense_variant,p.Thr102Ile,ENST00000400337,;	887	82	67	SUCCESS
NCF4	4689	.	GRCh37	22	37272068	37272068	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	141	0	ENST00000248899.6:c.759-3T>A		p.X253_splice	ENST00000248899	NM_000631.4	253		0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS13935.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTTAGGGA	NONE	.	.	.	.	.	ENSP00000380334	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000397147	Transcript	.	.	ENSG00000100365	7662	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCF4_HUMAN	NCF4	HGNC	B0QY04_HUMAN	.	UPI000013CC59	SNV	NCF4,stop_gained,p.Leu334Ter,ENST00000397147,;NCF4,stop_gained,p.Leu198Ter,ENST00000415063,;NCF4,splice_region_variant,,ENST00000248899,;NCF4,downstream_gene_variant,,ENST00000447071,;	1185	141	128	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098862	178098862	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	88	0	ENST00000397062.3:c.183A>C	p.Gln61His	p.Q61H	ENST00000397062	NM_006164.4	61	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS42782.1	183	SOMATICSNIPER|VARSCANS	.	TGGAGTTGTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.225)	.	tolerated(0.27)	.	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Gln45His,ENST00000449627,;NFE2L2,missense_variant,p.Gln45His,ENST00000423513,;NFE2L2,missense_variant,p.Gln61His,ENST00000397062,;NFE2L2,missense_variant,p.Gln45His,ENST00000446151,;NFE2L2,missense_variant,p.Gln45His,ENST00000588123,;NFE2L2,missense_variant,p.Gln60His,ENST00000586532,;NFE2L2,missense_variant,p.Gln45His,ENST00000421929,;NFE2L2,missense_variant,p.Gln45His,ENST00000464747,;NFE2L2,missense_variant,p.Gln45His,ENST00000448782,;NFE2L2,missense_variant,p.Gln45His,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	738	88	58	SUCCESS
TTN	7273	.	GRCh37	2	179435762	179435762	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	70	0	ENST00000591111.1:c.70174G>C	p.Asp23392His	p.D23392H	ENST00000591111		23392	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS59435.1	75097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTCATAGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp16093His,ENST00000359218,;TTN,missense_variant,p.Asp23392His,ENST00000591111,;TTN,missense_variant,p.Asp25033His,ENST00000589042,;TTN,missense_variant,p.Asp16160His,ENST00000342175,;TTN,missense_variant,p.Asp22465His,ENST00000342992,;TTN,missense_variant,p.Asp15968His,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	75322	70	66	SUCCESS
GULP1	51454	.	GRCh37	2	189449050	189449050	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	106	225	0	ENST00000359135.3:c.668C>T	p.Ser223Phe	p.S223F	ENST00000359135		223	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2295.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTCCAA	BUFFER|p.I220T|c.659T>C|3	.	.	hmmpanther:PTHR11232:SF31,hmmpanther:PTHR11232	.	.	ENSP00000386289	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000409580	Transcript	.	.	ENSG00000144366	18649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.02)	.	GULP1_HUMAN	GULP1	HGNC	B8ZZL1_HUMAN	.	UPI0000031CE3	SNV	GULP1,missense_variant,p.Ser48Phe,ENST00000451191,;GULP1,missense_variant,p.Ser120Phe,ENST00000409805,;GULP1,missense_variant,p.Ser223Phe,ENST00000409609,;GULP1,missense_variant,p.Ser223Phe,ENST00000359135,;GULP1,missense_variant,p.Ser223Phe,ENST00000409830,;GULP1,missense_variant,p.Ser223Phe,ENST00000409843,;GULP1,missense_variant,p.Ser223Phe,ENST00000409580,;GULP1,missense_variant,p.Ser108Phe,ENST00000433052,;GULP1,non_coding_transcript_exon_variant,,ENST00000467422,;GULP1,non_coding_transcript_exon_variant,,ENST00000495745,;GULP1,non_coding_transcript_exon_variant,,ENST00000478306,;GULP1,downstream_gene_variant,,ENST00000476422,;	1382	225	249	SUCCESS
BARD1	580	.	GRCh37	2	215657042	215657042	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	92	1	ENST00000260947.4:c.343C>T	p.Leu115=	p.L115=	ENST00000260947	NM_000465.2	115	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2397.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTAGCAAAT	NONE	.	.	hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171,Superfamily_domains:SSF57850	.	.	ENSP00000260947	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000260947	Transcript	.	.	ENSG00000138376	952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BARD1_HUMAN	BARD1	HGNC	.	.	UPI000013D11D	SNV	BARD1,synonymous_variant,p.%3D,ENST00000260947,;BARD1,intron_variant,,ENST00000421162,;BARD1,intron_variant,,ENST00000449967,;BARD1,intron_variant,,ENST00000471787,;BARD1,intron_variant,,ENST00000455743,;BARD1,downstream_gene_variant,,ENST00000479904,;	478	93	125	SUCCESS
RPS7	6201	.	GRCh37	2	3624107	3624107	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs922826398	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	179	351	0	ENST00000304921.5:c.178A>G	p.Ile60Val	p.I60V	ENST00000304921	NM_001011.3	60	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1648.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTATCATA	NONE	.	.	hmmpanther:PTHR11278:SF0,hmmpanther:PTHR11278,Pfam_domain:PF01251	.	.	ENSP00000339095	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000304921	Transcript	.	.	ENSG00000171863	10440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.28)	.	RS7_HUMAN	RPS7	HGNC	.	.	UPI0000029F18	SNV	RPS7,missense_variant,p.Ile60Val,ENST00000304921,;RPS7,missense_variant,p.Ile60Val,ENST00000406376,;RPS7,missense_variant,p.Ile60Val,ENST00000403564,;RPS7,missense_variant,p.Ile60Val,ENST00000407445,;SNORA73,upstream_gene_variant,,ENST00000516722,;RPS7,non_coding_transcript_exon_variant,,ENST00000491937,;RPS7,non_coding_transcript_exon_variant,,ENST00000462576,;RPS7,non_coding_transcript_exon_variant,,ENST00000481006,;RPS7,non_coding_transcript_exon_variant,,ENST00000479123,;RPS7,upstream_gene_variant,,ENST00000472966,;	342	351	349	SUCCESS
TRABD2A	129293	.	GRCh37	2	85049140	85049140	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	121	0	ENST00000409520.2:c.1419C>G	p.His473Gln	p.H473Q	ENST00000409520	NM_001277053.1	473	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS46349.1	1272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGTGGGA	NONE	.	.	hmmpanther:PTHR31120,hmmpanther:PTHR31120:SF4	.	.	ENSP00000335004	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000335459	Transcript	.	.	ENSG00000186854	27013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.51)	.	TIKI1_HUMAN	TRABD2A	HGNC	.	.	UPI000058F1DB	SNV	TRABD2A,missense_variant,p.His424Gln,ENST00000335459,;TRABD2A,missense_variant,p.His473Gln,ENST00000409520,;DNAH6,downstream_gene_variant,,ENST00000237449,;DNAH6,downstream_gene_variant,,ENST00000389394,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000496500,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000479944,;	1478	121	98	SUCCESS
GNLY	10578	.	GRCh37	2	85921908	85921908	+	intron_variant	Intron	SNP	T	T	C	rs762176890	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	13	0	ENST00000263863.4:c.52+315T>C		p.*18*	ENST00000263863	NM_006433.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1984.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCATTGGCC	NONE	.	.	.	.	.	ENSP00000263863	.	.	.	.	.	.	.	.	.	.	rs762176890	.	PASS	ENST00000263863	Transcript	.	.	ENSG00000115523	4414	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNLY_HUMAN	GNLY	HGNC	.	.	UPI0000001C18	SNV	GNLY,5_prime_UTR_variant,,ENST00000409696,;GNLY,intron_variant,,ENST00000263863,;GNLY,intron_variant,,ENST00000524600,;GNLY,upstream_gene_variant,,ENST00000526018,;GNLY,non_coding_transcript_exon_variant,,ENST00000534351,;GNLY,non_coding_transcript_exon_variant,,ENST00000533041,;GNLY,non_coding_transcript_exon_variant,,ENST00000489214,;GNLY,non_coding_transcript_exon_variant,,ENST00000489980,;GNLY,non_coding_transcript_exon_variant,,ENST00000464298,;GNLY,non_coding_transcript_exon_variant,,ENST00000470974,;GNLY,intron_variant,,ENST00000488945,;GNLY,intron_variant,,ENST00000482900,;GNLY,upstream_gene_variant,,ENST00000531685,;GNLY,upstream_gene_variant,,ENST00000491234,;	.	13	23	SUCCESS
GPD1L	23171	.	GRCh37	3	32148195	32148195	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	48	193	0	ENST00000282541.5:c.-9G>C		p.*3*	ENST00000282541	NM_015141.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33729.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGGCCCG	NONE	.	.	.	.	.	ENSP00000282541	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000282541	Transcript	.	.	ENSG00000152642	28956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPD1L_HUMAN	GPD1L	HGNC	C9K0P5_HUMAN,C9JFA7_HUMAN,B3KWN2_HUMAN	.	UPI000006E26D	SNV	GPD1L,5_prime_UTR_variant,,ENST00000431009,;GPD1L,5_prime_UTR_variant,,ENST00000425459,;GPD1L,5_prime_UTR_variant,,ENST00000282541,;GPD1L,intron_variant,,ENST00000429432,;GPD1L,5_prime_UTR_variant,,ENST00000428684,;	193	193	149	SUCCESS
SUMF1	285362	.	GRCh37	3	4508802	4508802	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200789939	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	34	122	0	ENST00000272902.5:c.128C>A	p.Ala43Glu	p.A43E	ENST00000272902	NM_182760.3	43	gCg/gAg	0	A:0	A:0	.	A:0	.	T	A/E	protein_coding	YES	CCDS2564.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGCGCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23150:SF17,hmmpanther:PTHR23150,Low_complexity_(Seg):seg	A:0	A:0.0004	ENSP00000272902	A:0.002	1/9	.	.	.	.	.	.	.	.	rs200789939	1/9	PASS	ENST00000272902	Transcript	.	A:0.0004	ENSG00000144455	20376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	A:0	tolerated(0.18)	.	SUMF1_HUMAN	SUMF1	HGNC	.	.	UPI0000040734	SNV	SUMF1,missense_variant,p.Ala43Glu,ENST00000458465,;SUMF1,missense_variant,p.Ala43Glu,ENST00000383843,;SUMF1,missense_variant,p.Ala43Glu,ENST00000534863,;SUMF1,missense_variant,p.Ala43Glu,ENST00000405420,;SUMF1,missense_variant,p.Ala43Glu,ENST00000272902,;SUMF1,missense_variant,p.Ala43Glu,ENST00000448413,;	164	122	86	SUCCESS
CELSR3	1951	.	GRCh37	3	48678931	48678931	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	115	0	ENST00000164024.4:c.8851T>C	p.Tyr2951His	p.Y2951H	ENST00000164024	NM_001407.2	2951	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS2775.1	8851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTAGGACA	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	.	ENSP00000164024	.	33/35	.	.	.	.	.	.	.	.	.	33/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious_low_confidence(0.05)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Tyr2956His,ENST00000544264,;CELSR3,missense_variant,p.Tyr2951His,ENST00000164024,;MIR4793,downstream_gene_variant,,ENST00000577502,;CELSR3,non_coding_transcript_exon_variant,,ENST00000461362,;CELSR3,non_coding_transcript_exon_variant,,ENST00000470999,;CELSR3,non_coding_transcript_exon_variant,,ENST00000498057,;	9132	115	97	SUCCESS
FGFBP1	9982	.	GRCh37	4	15937929	15937929	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	91	0	ENST00000382333.1:c.327G>T	p.Glu109Asp	p.E109D	ENST00000382333	NM_005130.4	109	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS3418.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCTCATC	NONE	.	.	hmmpanther:PTHR15258:SF2,hmmpanther:PTHR15258,Pfam_domain:PF06473	.	.	ENSP00000371770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000382333	Transcript	.	.	ENSG00000137440	19695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.53)	.	FGFP1_HUMAN	FGFBP1	HGNC	.	.	UPI000004A926	SNV	FGFBP1,missense_variant,p.Glu109Asp,ENST00000259988,;FGFBP1,missense_variant,p.Glu109Asp,ENST00000382333,;	622	91	37	SUCCESS
SLIT2	9353	.	GRCh37	4	20597447	20597447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs80248215	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	52	201	0	ENST00000504154.1:c.3310G>A	p.Glu1104Lys	p.E1104K	ENST00000504154	NM_004787.1	1104	Gaa/Aaa	0	.	A:0.0015	.	A:0	.	A	E/K	protein_coding	YES	CCDS3426.1	3310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGAAGGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	A:0	.	ENSP00000422591	A:0	31/37	.	.	.	.	.	.	.	.	rs80248215,COSM3602865	31/37	PASS	ENST00000504154	Transcript	.	A:0.0004	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	A:0	tolerated(0.16)	0,1	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.Glu1117Lys,ENST00000273739,;SLIT2,missense_variant,p.Glu1104Lys,ENST00000504154,;SLIT2,missense_variant,p.Glu1096Lys,ENST00000503823,;SLIT2,missense_variant,p.Glu1100Lys,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000512993,;	3562	201	120	SUCCESS
PCDH7	5099	.	GRCh37	4	30921774	30921774	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	113	0	ENST00000543491.1:c.3175-1G>C		p.X1059_splice	ENST00000543491		1059		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54753.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGCCATT	NONE	.	.	.	.	.	ENSP00000441802	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,splice_acceptor_variant,,ENST00000511884,;PCDH7,splice_acceptor_variant,,ENST00000543491,;PCDH7,upstream_gene_variant,,ENST00000509925,;	.	113	62	SUCCESS
PHOX2B	8929	.	GRCh37	4	41748001	41748001	+	synonymous_variant	Silent	SNP	T	T	C	rs574093401	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	46	163	0	ENST00000226382.2:c.768A>G	p.Ala256=	p.A256=	ENST00000226382	NM_003924.3	256	gcA/gcG	0	.	C:0	.	C:0	.	C	A	protein_coding	YES	CCDS3463.1	768	SOMATICSNIPER|VARSCANS	.	GCCGCTGCCGC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301	C:0.005	.	ENSP00000226382	C:0	3/3	.	.	.	.	.	.	.	.	rs574093401	3/3	PASS	ENST00000226382	Transcript	1	C:0.0016	ENSG00000109132	9143	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.0031	.	.	PHX2B_HUMAN	PHOX2B	HGNC	.	.	UPI000000D936	SNV	PHOX2B,synonymous_variant,p.%3D,ENST00000226382,;PHOX2B,downstream_gene_variant,,ENST00000510424,;RP11-227F19.2,upstream_gene_variant,,ENST00000510602,;RP11-227F19.1,upstream_gene_variant,,ENST00000508038,;	1128	163	107	SUCCESS
PDE6B	5158	.	GRCh37	4	655977	655977	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121918581	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	65	0	ENST00000496514.1:c.1669C>T	p.His557Tyr	p.H557Y	ENST00000496514		557	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS33932.1	1669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CCTACCACAAC	NONE	byFrequency|byCluster	.	Prints_domain:PR00387,Superfamily_domains:SSF109604,SMART_domains:SM00471,Pfam_domain:PF00233,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	.	.	ENSP00000420295	.	13/22	.	.	.	.	.	.	.	.	CM950916,rs121918581	13/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.938)	.	deleterious(0)	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.His278Tyr,ENST00000429163,;PDE6B,missense_variant,p.His557Tyr,ENST00000496514,;PDE6B,missense_variant,p.His557Tyr,ENST00000255622,;PDE6B,upstream_gene_variant,,ENST00000471824,;PDE6B,upstream_gene_variant,,ENST00000461490,;RP11-1191J2.5,upstream_gene_variant,,ENST00000609172,;PDE6B,upstream_gene_variant,,ENST00000460119,;	1690	65	26	SUCCESS
CENPC	1060	.	GRCh37	4	68379975	68379976	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	72	0	ENST00000273853.6:c.1260dup	p.Gln421ThrfsTer8	p.Q421Tfs*8	ENST00000273853	NM_001812.2	420	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS47063.1	1260-1261	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCTGTTTTT	NONE	.	.	hmmpanther:PTHR16684,Pfam_domain:PF15620	.	.	ENSP00000273853	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000273853	Transcript	.	.	ENSG00000145241	1854	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CENPC_HUMAN	CENPC	HGNC	.	.	UPI00004135A3	insertion	CENPC,frameshift_variant,p.Gln421ThrfsTer8,ENST00000273853,;CENPC,frameshift_variant,p.Gln421ThrfsTer8,ENST00000506882,;CENPC,frameshift_variant,p.Gln328ThrfsTer8,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;CENPC,upstream_gene_variant,,ENST00000506410,;	1511-1512	72	60	SUCCESS
ALB	213	.	GRCh37	4	74274521	74274524	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	AAGT	AAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	118	0	ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	481-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	6	.	HIGH	4/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	570-?	118	57	SUCCESS
FRAS1	80144	.	GRCh37	4	79340185	79340185	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	67	0	ENST00000264895.6:c.4508A>T	p.Tyr1503Phe	p.Y1503F	ENST00000264895	NM_025074.6	1503	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS54771.1	4508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTACAACA	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	33/74	.	.	.	.	.	.	.	.	.	33/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Tyr1503Phe,ENST00000325942,;FRAS1,missense_variant,p.Tyr1503Phe,ENST00000264895,;FRAS1,upstream_gene_variant,,ENST00000510944,;	4948	67	40	SUCCESS
ZNF608	57507	.	GRCh37	5	124080294	124080294	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	42	79	0	ENST00000306315.5:c.389T>A	p.Ile130Asn	p.I130N	ENST00000306315	NM_020747.2	130	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS34219.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGATCTCG	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.49)	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,missense_variant,p.Ile130Asn,ENST00000513986,;ZNF608,missense_variant,p.Ile130Asn,ENST00000509799,;ZNF608,missense_variant,p.Ile130Asn,ENST00000306315,;ZNF608,upstream_gene_variant,,ENST00000504926,;ZNF608,upstream_gene_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000512940,;ZNF608,missense_variant,p.Ile130Asn,ENST00000505686,;	825	79	70	SUCCESS
PCDHA7	56141	.	GRCh37	5	140214821	140214821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1307272356	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	66	129	0	ENST00000525929.1:c.853G>A	p.Val285Ile	p.V285I	ENST00000525929	NM_018910.2	285	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS54918.1	853	RADIA|SOMATICSNIPER|VARSCANS	.	GTGATGTTTCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.27)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Val285Ile,ENST00000378125,;PCDHA7,missense_variant,p.Val285Ile,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	853	129	141	SUCCESS
PCDHB7	56129	.	GRCh37	5	140554567	140554567	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	59	130	0	ENST00000231137.3:c.2151G>C	p.Ala717=	p.A717=	ENST00000231137	NM_018940.2	717	gcG/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS4249.1	2151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGGCCCC	NONE	.	.	hmmpanther:PTHR24028:SF69,hmmpanther:PTHR24028	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,synonymous_variant,p.%3D,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	2325	130	136	SUCCESS
CDH9	1007	.	GRCh37	5	26885790	26885790	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	90	176	0	ENST00000231021.4:c.1815G>T	p.Leu605=	p.L605=	ENST00000231021	NM_016279.3	605	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3893.1	1815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCAGGGC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,synonymous_variant,p.%3D,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	1988	176	194	SUCCESS
SNX18	112574	.	GRCh37	5	53839038	53839038	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs767977496	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	109	246	0	ENST00000381410.4:c.1651C>T	p.Arg551Ter	p.R551*	ENST00000381410	NM_001102575.1	551	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	.	CCDS43317.1	1651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGCGACAC	NONE	.	.	hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF13,Pfam_domain:PF10456,PIRSF_domain:PIRSF027744	.	.	ENSP00000370817	.	2/2	.	.	.	.	.	.	.	.	rs767977496	2/2	PASS	ENST00000381410	Transcript	.	.	ENSG00000178996	19245	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX18_HUMAN	SNX18	HGNC	.	.	UPI00001A8545	SNV	SNX18,stop_gained,p.Arg551Ter,ENST00000381410,;SNX18,3_prime_UTR_variant,,ENST00000343017,;	1841	246	252	SUCCESS
MRS2	57380	.	GRCh37	6	24412501	24412501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	90	198	0	ENST00000378386.3:c.466A>G	p.Asn156Asp	p.N156D	ENST00000378386	NM_020662.2	156	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS4552.1	466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGTAATTTA	NONE	.	.	hmmpanther:PTHR13890,hmmpanther:PTHR13890:SF0	.	.	ENSP00000367637	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378386	Transcript	.	.	ENSG00000124532	13785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.24)	.	MRS2_HUMAN	MRS2	HGNC	B4DMD9_HUMAN	.	UPI00000343FA	SNV	MRS2,missense_variant,p.Asn156Asp,ENST00000378386,;MRS2,missense_variant,p.Asn156Asp,ENST00000378353,;MRS2,missense_variant,p.Asn106Asp,ENST00000535061,;MRS2,stop_retained_variant,p.%3D,ENST00000274747,;MRS2,5_prime_UTR_variant,,ENST00000543597,;MRS2,intron_variant,,ENST00000443868,;MRS2,intron_variant,,ENST00000446191,;MRS2,non_coding_transcript_exon_variant,,ENST00000483634,;	559	198	185	SUCCESS
HIST1H2AE	0	.	GRCh37	6	26217258	26217258	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1299854545	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	132	0	ENST00000303910.2:c.56C>T	p.Ser19Phe	p.S19F	ENST00000303910	NM_021052.2	19	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4595.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTTCTTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000303373	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303910	Transcript	.	.	ENSG00000168274	4724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	H2A1B_HUMAN	HIST1H2AE	HGNC	Q08AJ9_HUMAN	.	UPI00000007AF	SNV	HIST1H2AE,missense_variant,p.Ser19Phe,ENST00000303910,;HIST1H2BG,upstream_gene_variant,,ENST00000244601,;	94	132	132	SUCCESS
TBX18	9096	.	GRCh37	6	85446717	85446717	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	52	106	0	ENST00000369663.5:c.1510T>A	p.Ser504Thr	p.S504T	ENST00000369663	NM_001080508.2	504	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS34495.1	1510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGAGGGTG	NONE	.	.	hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	SNV	TBX18,missense_variant,p.Ser504Thr,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;	1848	106	110	SUCCESS
BACH2	60468	.	GRCh37	6	90661177	90661177	+	synonymous_variant	Silent	SNP	G	G	A	rs1315295818	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	100	0	ENST00000257749.4:c.648C>T	p.Thr216=	p.T216=	ENST00000257749	NM_021813.2	216	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5026.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTGGTGTC	NONE	.	.	.	.	.	ENSP00000257749	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000257749	Transcript	.	.	ENSG00000112182	14078	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BACH2_HUMAN	BACH2	HGNC	S0BE05_HUMAN,S0BDZ6_HUMAN,S0BDY5_HUMAN,Q7Z6Q0_HUMAN	.	UPI000004F8AD	SNV	BACH2,synonymous_variant,p.%3D,ENST00000257749,;BACH2,synonymous_variant,p.%3D,ENST00000343122,;BACH2,synonymous_variant,p.%3D,ENST00000537989,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;	1356	100	73	SUCCESS
EPHA7	2045	.	GRCh37	6	94120371	94120371	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	62	167	0	ENST00000369303.4:c.680T>C	p.Leu227Ser	p.L227S	ENST00000369303	NM_004440.3	227	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS5031.1	680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTAAAGAG	BUFFER|p.R231*|c.691C>T|3	.	.	hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000358309	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,missense_variant,p.Leu227Ser,ENST00000369303,;EPHA7,missense_variant,p.Leu227Ser,ENST00000369297,;	865	167	146	SUCCESS
RIMS2	9699	.	GRCh37	8	104973332	104973332	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	125	128	0	ENST00000406091.3:c.2741del	p.Asp914AlafsTer8	p.D914Afs*8	ENST00000406091	NM_001100117.2	914	gAc/gc	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS55269.1	2741	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTATGACTGTG	NONE	.	.	hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	deletion	RIMS2,frameshift_variant,p.Asp914AlafsTer8,ENST00000406091,;RIMS2,frameshift_variant,p.Asp706AlafsTer8,ENST00000408894,;RIMS2,frameshift_variant,p.Asp914AlafsTer8,ENST00000504942,;RIMS2,frameshift_variant,p.Asp706AlafsTer8,ENST00000507740,;RIMS2,frameshift_variant,p.Asp753AlafsTer8,ENST00000262231,;RIMS2,frameshift_variant,p.Asp692AlafsTer8,ENST00000436393,;RIMS2,non_coding_transcript_exon_variant,,ENST00000507677,;	2741	128	293	SUCCESS
ANK1	286	.	GRCh37	8	41550170	41550170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	42	0	ENST00000347528.4:c.3854T>A	p.Ile1285Lys	p.I1285K	ENST00000347528	NM_020477.2	1285	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS47849.1	3977	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATGTCC	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	.	.	ENSP00000265709	.	32/43	.	.	.	.	.	.	.	.	.	32/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Ile1326Lys,ENST00000265709,;ANK1,missense_variant,p.Ile1285Lys,ENST00000289734,;ANK1,missense_variant,p.Ile1285Lys,ENST00000347528,;ANK1,missense_variant,p.Ile607Lys,ENST00000520299,;ANK1,missense_variant,p.Ile1285Lys,ENST00000352337,;ANK1,missense_variant,p.Ile1285Lys,ENST00000379758,;ANK1,missense_variant,p.Ile1285Lys,ENST00000396942,;ANK1,missense_variant,p.Ile1285Lys,ENST00000396945,;ANK1,non_coding_transcript_exon_variant,,ENST00000524069,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000518061,;	4259	42	73	SUCCESS
SLC44A1	23446	.	GRCh37	9	108126972	108126972	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	77	134	0	ENST00000374720.3:c.1224A>C	p.Ala408=	p.A408=	ENST00000374720	NM_080546.3	408	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6763.1	1224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGGAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF35,Pfam_domain:PF04515	.	.	ENSP00000363852	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000374720	Transcript	.	.	ENSG00000070214	18798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTL1_HUMAN	SLC44A1	HGNC	B3KMS7_HUMAN	.	UPI0000062328	SNV	SLC44A1,synonymous_variant,p.%3D,ENST00000374720,;SLC44A1,synonymous_variant,p.%3D,ENST00000374724,;SLC44A1,synonymous_variant,p.%3D,ENST00000343170,;SLC44A1,synonymous_variant,p.%3D,ENST00000374723,;SLC44A1,synonymous_variant,p.%3D,ENST00000470972,;	1471	134	83	SUCCESS
ASTN2	23245	.	GRCh37	9	119249699	119249699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	30	75	0	ENST00000313400.4:c.3436G>T	p.Val1146Phe	p.V1146F	ENST00000313400		1146	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS6815.1	3283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACCTCTC	NONE	.	.	hmmpanther:PTHR16592,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000354504	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000361209	Transcript	.	.	ENSG00000148219	17021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	ASTN2_HUMAN	ASTN2	HGNC	B7ZKP3_HUMAN,B2RCB6_HUMAN	.	UPI00002116D7	SNV	ASTN2,missense_variant,p.Val1142Phe,ENST00000373996,;ASTN2,missense_variant,p.Val247Phe,ENST00000288520,;ASTN2,missense_variant,p.Val1146Phe,ENST00000313400,;ASTN2,missense_variant,p.Val1095Phe,ENST00000361209,;ASTN2,missense_variant,p.Val198Phe,ENST00000361477,;ASTN2,missense_variant,p.Val198Phe,ENST00000341734,;ASTN2,missense_variant,p.Val869Phe,ENST00000373986,;	3415	75	36	SUCCESS
KANK1	23189	.	GRCh37	9	711611	711611	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752429506	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	28	90	0	ENST00000382297.2:c.845G>A	p.Arg282Gln	p.R282Q	ENST00000382297	NM_001256877.1	282	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS34976.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGAACCA	NONE	byFrequency	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	7/16	.	.	.	.	.	.	.	.	rs752429506	7/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.279)	.	deleterious(0)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Arg124Gln,ENST00000382293,;KANK1,missense_variant,p.Arg282Gln,ENST00000382303,;KANK1,missense_variant,p.Arg282Gln,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	1497	90	39	SUCCESS
FAM127A	0	.	GRCh37	X	134166340	134166340	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	41	35	0	ENST00000257013.7:c.-74C>A		p.*25*	ENST00000257013	NM_001078171.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43997.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CATTTCCGGCG	NONE	.	.	.	.	.	ENSP00000257013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000257013	Transcript	.	.	ENSG00000134590	2569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F127A_HUMAN	FAM127A	HGNC	.	.	UPI00000373C5	SNV	FAM127A,5_prime_UTR_variant,,ENST00000257013,;FAM127A,upstream_gene_variant,,ENST00000464369,;FAM127A,upstream_gene_variant,,ENST00000495563,;	8	35	42	SUCCESS
TTC40	0	.	GRCh37	10	134646996	134646996	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	140	0	ENST00000368586.5:c.6983T>C	p.Val2328Ala	p.V2328A	ENST00000368586	NM_001200049.2	2328	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS58101.1	6983	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGACTATC	NONE	.	.	.	.	.	ENSP00000357575	.	50/58	.	.	.	.	.	.	.	.	.	50/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	deleterious(0)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Val97Ala,ENST00000448925,;TTC40,missense_variant,p.Val489Ala,ENST00000263170,;TTC40,missense_variant,p.Val2328Ala,ENST00000368586,;TTC40,downstream_gene_variant,,ENST00000476633,;	7084	141	106	SUCCESS
SVIL	6840	.	GRCh37	10	29822162	29822162	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	98	0	ENST00000355867.4:c.1134G>A	p.Lys378=	p.K378=	ENST00000355867	NM_021738.2	378	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS7164.1	1134	RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGCTTGGC	NONE	.	.	.	.	.	ENSP00000364547	.	10/40	.	.	.	.	.	.	.	.	.	10/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,synonymous_variant,p.%3D,ENST00000355867,;SVIL,synonymous_variant,p.%3D,ENST00000375398,;SVIL,intron_variant,,ENST00000375400,;	1584	98	65	SUCCESS
PRKG1	5592	.	GRCh37	10	53822361	53822361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	26	136	0	ENST00000373985.1:c.824G>T	p.Gly275Val	p.G275V	ENST00000373985	NM_001098512.2	275	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7244.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGGAGACT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF51206,Prints_domain:PR00104	.	.	ENSP00000363092	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.Gly160Val,ENST00000373976,;PRKG1,missense_variant,p.Gly287Val,ENST00000401604,;PRKG1,missense_variant,p.Gly275Val,ENST00000373985,;PRKG1,missense_variant,p.Gly302Val,ENST00000373980,;PRKG1,5_prime_UTR_variant,,ENST00000373975,;	1322	136	126	SUCCESS
PRKG1	5592	.	GRCh37	10	53822362	53822362	+	synonymous_variant	Silent	SNP	A	A	T	rs145917628	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	26	138	0	ENST00000373985.1:c.825A>T	p.Gly275=	p.G275=	ENST00000373985	NM_001098512.2	275	ggA/ggT	0	C:0.0039	C:0.0023	.	C:0.0014	.	T	G	protein_coding	YES	CCDS7244.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGAGACTG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50042,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF51206,Prints_domain:PR00104	C:0	C:0	ENSP00000363092	C:0	7/18	.	.	.	.	.	.	.	.	rs145917628	7/18	PASS	ENST00000373980	Transcript	1	C:0.0008	ENSG00000185532	9414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,synonymous_variant,p.%3D,ENST00000373976,;PRKG1,synonymous_variant,p.%3D,ENST00000401604,;PRKG1,synonymous_variant,p.%3D,ENST00000373985,;PRKG1,synonymous_variant,p.%3D,ENST00000373980,;PRKG1,5_prime_UTR_variant,,ENST00000373975,;	1323	138	127	SUCCESS
FAM208B	0	.	GRCh37	10	5790611	5790616	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCTA	GAGCTA	AGCTG	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	GAGCTA	GAGCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	75	0	ENST00000328090.5:c.5227_5232delinsAGCTG	p.Glu1743SerfsTer3	p.E1743Sfs*3	ENST00000328090	NM_017782.4	1743	GAGCTA/AGCTG	0	.	.	.	.	.	AGCTG	EL/SX	protein_coding	YES	CCDS41485.1	5227-5232	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAAGGAGCTATTGAA	NONE	.	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	substitution	FAM208B,frameshift_variant,p.Glu1743SerfsTer3,ENST00000328090,;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;	5852-5857	75	66	SUCCESS
ANK3	288	.	GRCh37	10	61832655	61832655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	82	0	ENST00000280772.2:c.7984G>T	p.Ala2662Ser	p.A2662S	ENST00000280772	NM_020987.3	2662	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS7258.1	7984	MUTECT|MUSE	.	CTCGGCCTTGG	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Ala2662Ser,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	8176	82	81	SUCCESS
WAPAL	0	.	GRCh37	10	88220155	88220155	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	104	0	ENST00000298767.5:c.2580+1G>A		p.X860_splice	ENST00000298767	NM_015045.2	860		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7375.1	.	MUTECT|MUSE	.	ACTTACACTTT	NONE	.	.	.	.	.	ENSP00000298767	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	HIGH	11/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	SNV	WAPAL,splice_donor_variant,,ENST00000298767,;WAPAL,splice_donor_variant,,ENST00000372075,;WAPAL,splice_donor_variant,,ENST00000263070,;	.	104	87	SUCCESS
LIPF	8513	.	GRCh37	10	90435976	90435976	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747981766	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	52	198	0	ENST00000238983.4:c.899C>A	p.Ser300Tyr	p.S300Y	ENST00000238983	NM_004190.3	300	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS55718.1	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTCTGGGA	NONE	byFrequency	.	hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF25,Pfam_domain:PF00561,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000862,Superfamily_domains:SSF53474	.	.	ENSP00000377900	.	10/11	.	.	.	.	.	.	.	.	rs747981766	10/11	PASS	ENST00000394375	Transcript	.	.	ENSG00000182333	6622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.04)	.	LIPG_HUMAN	LIPF	HGNC	.	.	UPI0001E92A2A	SNV	LIPF,missense_variant,p.Ser300Tyr,ENST00000238983,;LIPF,missense_variant,p.Ser277Tyr,ENST00000355843,;LIPF,missense_variant,p.Ser267Tyr,ENST00000608620,;LIPF,missense_variant,p.Ser310Tyr,ENST00000394375,;LIPF,non_coding_transcript_exon_variant,,ENST00000496797,;	1042	198	170	SUCCESS
MUC2	4583	.	GRCh37	11	1092362	1092362	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	7	141	0	ENST00000441003.2:c.4181A>T	p.Lys1394Met	p.K1394M	ENST00000441003	NM_002457.2	1394	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	.	4181	MUTECT|MUSE	.	GGATAAGTGTA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	30/49	.	.	.	.	.	.	.	.	.	30/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.527)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Lys1394Met,ENST00000441003,;MUC2,missense_variant,p.Lys1395Met,ENST00000359061,;MUC2,intron_variant,,ENST00000361558,;MUC2,upstream_gene_variant,,ENST00000333592,;	4208	141	123	SUCCESS
DSCAML1	57453	.	GRCh37	11	117310015	117310015	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	49	0	ENST00000321322.6:c.4291T>C	p.Phe1431Leu	p.F1431L	ENST00000321322	NM_020693.2	1431	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS8384.1	4291	RADIA|MUTECT|MUSE	.	GTCAAAGCCAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	23/33	.	.	.	.	.	.	.	.	.	23/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.029)	.	tolerated(0.7)	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Phe1161Leu,ENST00000527706,;DSCAML1,missense_variant,p.Phe1431Leu,ENST00000321322,;	4293	49	43	SUCCESS
MUC5B	727897	.	GRCh37	11	1265206	1265206	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	93	0	ENST00000529681.1:c.7096C>A	p.Pro2366Thr	p.P2366T	ENST00000529681	NM_002458.2	2366	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS44515.2	7096	RADIA|VARSCANS	.	CCCAGCCTGGT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Pro2366Thr,ENST00000529681,;MUC5B,missense_variant,p.Pro2369Thr,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	7154	93	75	SUCCESS
PRDM10	56980	.	GRCh37	11	129801056	129801056	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	79	0	ENST00000358825.5:c.1385C>T	p.Pro462Leu	p.P462L	ENST00000358825	NM_020228.2	462	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS44771.1	1385	MUTECT|MUSE	.	GCTGAGGGATT	NONE	.	.	hmmpanther:PTHR11389:SF415,hmmpanther:PTHR11389	.	.	ENSP00000351686	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000358825	Transcript	.	.	ENSG00000170325	13995	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	PRD10_HUMAN	PRDM10	HGNC	.	.	UPI00002371B3	SNV	PRDM10,missense_variant,p.Pro376Leu,ENST00000526082,;PRDM10,missense_variant,p.Pro462Leu,ENST00000360871,;PRDM10,missense_variant,p.Pro436Leu,ENST00000528746,;PRDM10,missense_variant,p.Pro462Leu,ENST00000358825,;PRDM10,missense_variant,p.Pro179Leu,ENST00000533431,;PRDM10,missense_variant,p.Pro376Leu,ENST00000423662,;PRDM10,missense_variant,p.Pro376Leu,ENST00000304538,;	1617	79	59	SUCCESS
IGF2	3481	.	GRCh37	11	2154351	2154351	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	24	175	0	ENST00000434045.2:c.577del	p.Arg193AlafsTer22	p.R193Afs*22	ENST00000434045	NM_001127598.1	193	Cgc/gc	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS44517.1	577	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGGCGGGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11454:SF10,hmmpanther:PTHR11454,Pfam_domain:PF08365	.	.	ENSP00000391826	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434045	Transcript	.	.	ENSG00000167244	5466	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGF2_HUMAN	IGF2	HGNC	E3UN46_HUMAN	.	UPI0001751501	deletion	IGF2,frameshift_variant,p.Arg137AlafsTer22,ENST00000381395,;IGF2,frameshift_variant,p.Arg137AlafsTer22,ENST00000381389,;IGF2,frameshift_variant,p.Arg193AlafsTer22,ENST00000434045,;IGF2,frameshift_variant,p.Arg140AlafsTer22,ENST00000381406,;IGF2,frameshift_variant,p.Arg137AlafsTer22,ENST00000416167,;IGF2,frameshift_variant,p.Arg140AlafsTer22,ENST00000381392,;IGF2,frameshift_variant,p.Arg137AlafsTer22,ENST00000418738,;IGF2,frameshift_variant,p.Arg137AlafsTer22,ENST00000300632,;MIR483,downstream_gene_variant,,ENST00000385070,;AC132217.4,upstream_gene_variant,,ENST00000430034,;INS-IGF2,3_prime_UTR_variant,,ENST00000356578,;	962	175	163	SUCCESS
SVIP	258010	.	GRCh37	11	22851254	22851254	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780582606	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	37	257	0	ENST00000354193.4:c.41C>A	p.Pro14His	p.P14H	ENST00000354193	NM_148893.1	14	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS41627.1	41	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGGGAGGC	NONE	.	.	.	.	.	ENSP00000346130	.	1/4	.	.	.	.	.	.	.	.	rs780582606	1/4	PASS	ENST00000354193	Transcript	.	.	ENSG00000198168	25238	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.824)	.	tolerated(0.17)	.	SVIP_HUMAN	SVIP	HGNC	.	.	UPI000006DD71	SNV	SVIP,missense_variant,p.Pro14His,ENST00000354193,;RP11-17A1.3,intron_variant,,ENST00000525963,;RP11-17A1.3,intron_variant,,ENST00000528701,;RP11-17A1.3,intron_variant,,ENST00000499625,;SVIP,intron_variant,,ENST00000529848,;SVIP,upstream_gene_variant,,ENST00000530199,;SVIP,upstream_gene_variant,,ENST00000533774,;SVIP,upstream_gene_variant,,ENST00000525670,;	158	257	195	SUCCESS
WT1	7490	.	GRCh37	11	32449500	32449500	+	splice_donor_variant	Splice_Site	SNP	A	A	G	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	12	179	0	ENST00000332351.3:c.872+2T>C		p.X291_splice	ENST00000332351	NM_024426.4	291		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7878.2	.	MUTECT|MUSE|VARSCANS	.	TTCCTACCTGC	NONE	.	.	.	.	.	ENSP00000331327	.	.	.	.	.	.	.	.	.	.	CS984675	.	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	HIGH	3/9	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	.	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,splice_donor_variant,,ENST00000527775,;WT1,splice_donor_variant,,ENST00000332351,;WT1,splice_donor_variant,,ENST00000448076,;WT1,splice_donor_variant,,ENST00000452863,;WT1,splice_donor_variant,,ENST00000530998,;WT1,splice_donor_variant,,ENST00000379079,;WT1,splice_donor_variant,,ENST00000379077,;	.	180	145	SUCCESS
OR51L1	119682	.	GRCh37	11	5020271	5020271	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1370241599	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	11	122	0	ENST00000321543.1:c.59C>T	p.Pro20Leu	p.P20L	ENST00000321543	NM_001004755.1	20	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS31369.1	59	MUTECT|MUSE|VARSCANS	.	TTTTCCTGGAC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	COSM689173	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.299)	.	deleterious(0.01)	1	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,missense_variant,p.Pro20Leu,ENST00000321543,;	59	122	123	SUCCESS
OR5J2	282775	.	GRCh37	11	55944169	55944169	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	106	0	ENST00000312298.1:c.76G>T	p.Val26Leu	p.V26L	ENST00000312298	NM_001005492.1	26	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS31522.1	76	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGTGCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF102,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000310788	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312298	Transcript	.	.	ENSG00000174957	19612	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.66)	.	OR5J2_HUMAN	OR5J2	HGNC	.	.	UPI000004B232	SNV	OR5J2,missense_variant,p.Val26Leu,ENST00000312298,;	76	106	68	SUCCESS
OR8K3	219473	.	GRCh37	11	56086057	56086057	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs141217471	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	6	137	0	ENST00000312711.1:c.275T>G	p.Ile92Ser	p.I92S	ENST00000312711	NM_001005202.1	92	aTt/aGt	0	A:0.0002	.	.	.	.	G	I/S	protein_coding	YES	CCDS31527.1	275	MUTECT|MUSE	.	TATAATTTCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	A:0	ENSP00000323555	.	1/1	.	.	.	.	.	.	.	.	rs141217471	1/1	PASS	ENST00000312711	Transcript	.	.	ENSG00000181689	15313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious_low_confidence(0)	.	OR8K3_HUMAN	OR8K3	HGNC	.	.	UPI0000041BE7	SNV	OR8K3,missense_variant,p.Ile92Ser,ENST00000312711,;	275	137	132	SUCCESS
MS4A4A	51338	.	GRCh37	11	60068517	60068517	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	36	0	ENST00000337908.4:c.374C>G	p.Thr125Ser	p.T125S	ENST00000337908	NM_148975.2	125	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS7982.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAACTACAA	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF35,Pfam_domain:PF04103	.	.	ENSP00000338648	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000337908	Transcript	.	.	ENSG00000110079	13371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	deleterious(0.05)	.	M4A4A_HUMAN	MS4A4A	HGNC	.	.	UPI0000055AE7	SNV	MS4A4A,missense_variant,p.Thr125Ser,ENST00000532114,;MS4A4A,missense_variant,p.Thr106Ser,ENST00000395016,;MS4A4A,missense_variant,p.Thr125Ser,ENST00000337908,;MS4A4A,missense_variant,p.Thr106Ser,ENST00000355131,;MS4A4A,3_prime_UTR_variant,,ENST00000527056,;MS4A4A,3_prime_UTR_variant,,ENST00000343968,;MS4A4A,3_prime_UTR_variant,,ENST00000529950,;MS4A4A,upstream_gene_variant,,ENST00000529991,;	464	36	27	SUCCESS
MS4A10	341116	.	GRCh37	11	60563034	60563034	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	53	0	ENST00000308287.1:c.499A>C	p.Ile167Leu	p.I167L	ENST00000308287	NM_206893.3	167	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS7992.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATCCAG	NONE	.	.	hmmpanther:PTHR23320:SF5,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	.	ENSP00000311862	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000308287	Transcript	.	.	ENSG00000172689	13368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.31)	.	tolerated(0.16)	.	M4A10_HUMAN	MS4A10	HGNC	.	.	UPI000023754A	SNV	MS4A10,missense_variant,p.Ile167Leu,ENST00000308287,;	595	53	39	SUCCESS
FAU	2197	.	GRCh37	11	64888473	64888473	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	135	0	ENST00000527548.1:c.256del	p.Val86Ter	p.V86*	ENST00000527548		86	Gtg/tg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS8095.1	256	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTCACTTTTC	NONE	.	.	hmmpanther:PTHR12650,Pfam_domain:PF04758,Superfamily_domains:SSF54236	.	.	ENSP00000435370	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000529639	Transcript	.	.	ENSG00000149806	3597	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBIM_HUMAN,RS30_HUMAN	FAU	HGNC	E9PM49_HUMAN	.	UPI000006EA56	deletion	FAU,frameshift_variant,p.Val51Ter,ENST00000525297,;FAU,frameshift_variant,p.Val86Ter,ENST00000526555,;FAU,frameshift_variant,p.Val86Ter,ENST00000529639,;FAU,frameshift_variant,p.Val86Ter,ENST00000527548,;FAU,frameshift_variant,p.Val86Ter,ENST00000531743,;FAU,3_prime_UTR_variant,,ENST00000529259,;FAU,intron_variant,,ENST00000279259,;MRPL49,upstream_gene_variant,,ENST00000534078,;TM7SF2,downstream_gene_variant,,ENST00000279263,;ZNHIT2,upstream_gene_variant,,ENST00000310597,;MRPL49,upstream_gene_variant,,ENST00000526171,;FAU,downstream_gene_variant,,ENST00000434372,;TM7SF2,downstream_gene_variant,,ENST00000345348,;MRPL49,upstream_gene_variant,,ENST00000279242,;MRPL49,upstream_gene_variant,,ENST00000533943,;ZNHIT2,upstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000540748,;MRPL49,upstream_gene_variant,,ENST00000531705,;AP003068.12,downstream_gene_variant,,ENST00000527789,;MRPL49,upstream_gene_variant,,ENST00000524482,;MRPL49,upstream_gene_variant,,ENST00000528529,;FAU,non_coding_transcript_exon_variant,,ENST00000531357,;TM7SF2,downstream_gene_variant,,ENST00000529601,;TM7SF2,downstream_gene_variant,,ENST00000530650,;TM7SF2,downstream_gene_variant,,ENST00000529292,;TM7SF2,downstream_gene_variant,,ENST00000526048,;MRPL49,upstream_gene_variant,,ENST00000526319,;MRPL49,upstream_gene_variant,,ENST00000532671,;SYVN1,downstream_gene_variant,,ENST00000530451,;	648	135	130	SUCCESS
OR2AG1	144125	.	GRCh37	11	6806278	6806278	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1232523735	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	87	0	ENST00000307401.4:c.10T>C	p.Trp4Arg	p.W4R	ENST00000307401	NM_001004489.2	4	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS31414.1	10	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGGAAC	NONE	.	.	Superfamily_domains:SSF81321,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183	.	.	ENSP00000307447	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307401	Transcript	.	.	ENSG00000170803	15142	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.21)	.	O2AG1_HUMAN	OR2AG1	HGNC	.	.	UPI00000015AF	SNV	OR2AG1,missense_variant,p.Trp4Arg,ENST00000307401,;	31	87	81	SUCCESS
GAB2	9846	.	GRCh37	11	77991812	77991812	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	91	0	ENST00000361507.4:c.211G>A	p.Ala71Thr	p.A71T	ENST00000361507	NM_080491.2	71	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8259.1	211	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCATCTA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF4,PROSITE_profiles:PS50003	.	.	ENSP00000354952	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000361507	Transcript	.	.	ENSG00000033327	14458	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.259)	.	deleterious(0.03)	.	GAB2_HUMAN	GAB2	HGNC	E9PJE2_HUMAN,E9PJ26_HUMAN	.	UPI0000073037	SNV	GAB2,missense_variant,p.Ala71Thr,ENST00000361507,;GAB2,missense_variant,p.Ala33Thr,ENST00000340149,;GAB2,missense_variant,p.Ala33Thr,ENST00000530915,;GAB2,missense_variant,p.Ala33Thr,ENST00000528886,;GAB2,non_coding_transcript_exon_variant,,ENST00000526030,;GAB2,non_coding_transcript_exon_variant,,ENST00000534823,;	297	91	90	SUCCESS
TAS2R7	50837	.	GRCh37	12	10955114	10955114	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	12	111	0	ENST00000240687.2:c.56T>A	p.Val19Glu	p.V19E	ENST00000240687	NM_023919.2	19	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8631.1	56	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCACTGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF58,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000240687	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000240687	Transcript	.	.	ENSG00000121377	14913	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.69)	.	deleterious(0)	.	TA2R7_HUMAN	TAS2R7	HGNC	Q50KV7_HUMAN,Q50KV5_HUMAN	.	UPI0000038B0F	SNV	TAS2R7,missense_variant,p.Val19Glu,ENST00000240687,;TAS2R8,downstream_gene_variant,,ENST00000240615,;	113	111	88	SUCCESS
CCDC63	160762	.	GRCh37	12	111345215	111345215	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	90	0	ENST00000308208.5:c.1627G>A	p.Val543Met	p.V543M	ENST00000308208	NM_152591.1	543	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS9151.1	1627	MUTECT|MUSE	.	AGGAAGTGCGC	BUFFER|p.G545R|c.1633G>A|4	.	.	hmmpanther:PTHR21694:SF20,hmmpanther:PTHR21694	.	.	ENSP00000312399	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000308208	Transcript	.	.	ENSG00000173093	26669	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.24)	.	CCD63_HUMAN	CCDC63	HGNC	G3V217_HUMAN,B4DY03_HUMAN	.	UPI000006F794	SNV	CCDC63,missense_variant,p.Val543Met,ENST00000308208,;CCDC63,missense_variant,p.Val464Met,ENST00000552694,;CCDC63,missense_variant,p.Val503Met,ENST00000545036,;MYL2,downstream_gene_variant,,ENST00000548438,;MYL2,downstream_gene_variant,,ENST00000228841,;	1869	90	73	SUCCESS
TBX5	6910	.	GRCh37	12	114793594	114793594	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	78	0	ENST00000310346.4:c.1300C>A	p.Pro434Thr	p.P434T	ENST00000310346	NM_000192.3	434	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9173.1	1300	MUTECT|MUSE	.	CAGGGGCCCCG	BUFFER|p.S432L|c.1295C>T|3	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28	.	.	ENSP00000309913	.	9/9	.	.	.	.	.	.	.	.	COSM4039041	9/9	PASS	ENST00000310346	Transcript	.	.	ENSG00000089225	11604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.543)	.	tolerated(0.37)	1	TBX5_HUMAN	TBX5	HGNC	.	.	UPI0000136AA2	SNV	TBX5,missense_variant,p.Pro434Thr,ENST00000405440,;TBX5,missense_variant,p.Pro384Thr,ENST00000349716,;TBX5,missense_variant,p.Pro434Thr,ENST00000310346,;	1967	78	63	SUCCESS
BCAT1	586	.	GRCh37	12	25055017	25055017	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	8	0	ENST00000261192.7:c.7-198G>T		p.*3*	ENST00000261192	NM_005504.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53761.1	.	MUTECT|MUSE	.	CTTCCCACCCT	NONE	.	.	.	.	.	ENSP00000443459	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539282	Transcript	.	.	ENSG00000060982	976	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCAT1_HUMAN	BCAT1	HGNC	.	.	UPI0001D27F89	SNV	BCAT1,5_prime_UTR_variant,,ENST00000538118,;BCAT1,intron_variant,,ENST00000539780,;BCAT1,intron_variant,,ENST00000539282,;BCAT1,intron_variant,,ENST00000546285,;BCAT1,intron_variant,,ENST00000342945,;BCAT1,intron_variant,,ENST00000261192,;AC026310.1,upstream_gene_variant,,ENST00000599478,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;	.	8	8	SUCCESS
KRT6B	3854	.	GRCh37	12	52845360	52845360	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	11	257	1	ENST00000252252.3:c.503A>G	p.Lys168Arg	p.K168R	ENST00000252252	NM_005555.3	168	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS8828.1	503	MUTECT|MUSE	.	GGGTCTTGATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000252252	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000252252	Transcript	.	.	ENSG00000185479	6444	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	K2C6B_HUMAN	KRT6B	HGNC	.	.	UPI000013CD50	SNV	KRT6B,missense_variant,p.Lys168Arg,ENST00000252252,;	551	258	213	SUCCESS
BLOC1S1	2647	.	GRCh37	12	56110774	56110774	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775848362	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	4	99	0	ENST00000548925.1:c.203A>G	p.Asp68Gly	p.D68G	ENST00000548925		68	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS8889.2	203	MUTECT|MUSE	.	GGTGGATCACC	NONE	.	.	hmmpanther:PTHR13073:SF1,hmmpanther:PTHR13073,Pfam_domain:PF06320	.	.	ENSP00000447537	.	2/4	.	.	.	.	.	.	.	.	rs775848362	2/4	PASS	ENST00000548925	Transcript	.	.	ENSG00000135441	4200	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.376)	.	deleterious(0.02)	.	BL1S1_HUMAN	BLOC1S1	HGNC	G8JLQ3_HUMAN	.	UPI00001FC44F	SNV	BLOC1S1,missense_variant,p.Asp68Gly,ENST00000549147,;BLOC1S1,missense_variant,p.Asp40Gly,ENST00000257899,;BLOC1S1,missense_variant,p.Asp68Gly,ENST00000548925,;RP11-644F5.10,missense_variant,p.Asp68Gly,ENST00000550412,;BLOC1S1,5_prime_UTR_variant,,ENST00000551926,;BLOC1S1,5_prime_UTR_variant,,ENST00000547076,;RP11-644F5.10,intron_variant,,ENST00000549424,;BLOC1S1,intron_variant,,ENST00000548556,;ITGA7,upstream_gene_variant,,ENST00000452168,;RDH5,upstream_gene_variant,,ENST00000548082,;RDH5,upstream_gene_variant,,ENST00000552930,;RDH5,upstream_gene_variant,,ENST00000547072,;RDH5,upstream_gene_variant,,ENST00000257895,;ITGA7,upstream_gene_variant,,ENST00000557257,;RDH5,upstream_gene_variant,,ENST00000553160,;RP11-644F5.10,intron_variant,,ENST00000551946,;BLOC1S1,intron_variant,,ENST00000553100,;RDH5,upstream_gene_variant,,ENST00000553187,;ITGA7,upstream_gene_variant,,ENST00000556273,;RDH5,upstream_gene_variant,,ENST00000550608,;ITGA7,upstream_gene_variant,,ENST00000555687,;ITGA7,upstream_gene_variant,,ENST00000553737,;ITGA7,upstream_gene_variant,,ENST00000553276,;ITGA7,upstream_gene_variant,,ENST00000553893,;ITGA7,upstream_gene_variant,,ENST00000554724,;ITGA7,upstream_gene_variant,,ENST00000555809,;ITGA7,upstream_gene_variant,,ENST00000556371,;RDH5,upstream_gene_variant,,ENST00000548486,;RDH5,upstream_gene_variant,,ENST00000547301,;RDH5,upstream_gene_variant,,ENST00000548123,;	218	99	113	SUCCESS
CHD4	1108	.	GRCh37	12	6692560	6692560	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	49	0	ENST00000357008.2:c.3880-16C>T		p.*1294*	ENST00000357008	NM_001273.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8552.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGGCCAG	NONE	.	.	.	.	.	ENSP00000349508	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	MODIFIER	25/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,intron_variant,,ENST00000544040,;CHD4,intron_variant,,ENST00000544484,;CHD4,intron_variant,,ENST00000309577,;CHD4,intron_variant,,ENST00000357008,;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,non_coding_transcript_exon_variant,,ENST00000501075,;CHD4,intron_variant,,ENST00000536301,;CHD4,intron_variant,,ENST00000540960,;CHD4,upstream_gene_variant,,ENST00000542717,;	.	49	29	SUCCESS
ZNF384	171017	.	GRCh37	12	6787319	6787319	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	43	0	ENST00000361959.3:c.660C>A	p.Asp220Glu	p.D220E	ENST00000361959		220	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS44817.1	660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGTCATC	NONE	.	.	hmmpanther:PTHR11389:SF332,hmmpanther:PTHR11389	.	.	ENSP00000380019	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000396801	Transcript	.	.	ENSG00000126746	11955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.94)	.	ZN384_HUMAN	ZNF384	HGNC	F5H3Z9_HUMAN,F5H105_HUMAN,F5H0D6_HUMAN,F5GYZ1_HUMAN,D3DUR9_HUMAN,B4DQU6_HUMAN,A9X425_HUMAN	.	UPI00001AE6F8	SNV	ZNF384,missense_variant,p.Asp220Glu,ENST00000361959,;ZNF384,missense_variant,p.Asp220Glu,ENST00000396801,;ZNF384,missense_variant,p.Asp204Glu,ENST00000319770,;ZNF384,missense_variant,p.Asp220Glu,ENST00000396799,;ZNF384,missense_variant,p.Asp220Glu,ENST00000417772,;ZNF384,missense_variant,p.Asp165Glu,ENST00000355772,;ZNF384,missense_variant,p.Asp220Glu,ENST00000396795,;ZNF384,missense_variant,p.Asp204Glu,ENST00000436774,;ZNF384,downstream_gene_variant,,ENST00000540915,;ZNF384,downstream_gene_variant,,ENST00000535485,;ZNF384,downstream_gene_variant,,ENST00000542351,;ZNF384,downstream_gene_variant,,ENST00000544482,;ZNF384,downstream_gene_variant,,ENST00000538829,;ZNF384,non_coding_transcript_exon_variant,,ENST00000542519,;ZNF384,downstream_gene_variant,,ENST00000537248,;ZNF384,downstream_gene_variant,,ENST00000542605,;ZNF384,upstream_gene_variant,,ENST00000537383,;	868	43	27	SUCCESS
PLXNC1	10154	.	GRCh37	12	94697637	94697637	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	19	288	0	ENST00000258526.4:c.4492T>G	p.Ser1498Ala	p.S1498A	ENST00000258526	NM_005761.2	1498	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS9049.1	4492	MUTECT|MUSE|VARSCANS	.	CATCCTCAGAA	NONE	.	.	hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000258526	.	29/31	.	.	.	.	.	.	.	.	.	29/31	PASS	ENST00000258526	Transcript	.	.	ENSG00000136040	9106	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.032)	.	tolerated(0.31)	.	PLXC1_HUMAN	PLXNC1	HGNC	F8VUW4_HUMAN,F5H3A2_HUMAN	.	UPI0000038AF4	SNV	PLXNC1,missense_variant,p.Ser237Ala,ENST00000545312,;PLXNC1,missense_variant,p.Ser545Ala,ENST00000547057,;PLXNC1,missense_variant,p.Ser1498Ala,ENST00000258526,;CCDC41,downstream_gene_variant,,ENST00000397809,;CCDC41,downstream_gene_variant,,ENST00000339839,;CCDC41,downstream_gene_variant,,ENST00000552632,;CCDC41,downstream_gene_variant,,ENST00000546783,;PLXNC1,3_prime_UTR_variant,,ENST00000549217,;	4741	288	226	SUCCESS
FLT1	2321	.	GRCh37	13	29041086	29041086	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	89	0	ENST00000282397.4:c.342T>C	p.Thr114=	p.T114=	ENST00000282397	NM_002019.4	114	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9330.1	342	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAAGTAGG	NONE	.	.	Pfam_domain:PF13895,SMART_domains:SM00409	.	.	ENSP00000282397	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,synonymous_variant,p.%3D,ENST00000539099,;FLT1,synonymous_variant,p.%3D,ENST00000282397,;FLT1,synonymous_variant,p.%3D,ENST00000541932,;	594	89	67	SUCCESS
FNDC3A	22862	.	GRCh37	13	49649455	49649455	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1317825970	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	241	14	370	0	ENST00000492622.2:c.130G>A	p.Ala44Thr	p.A44T	ENST00000492622	NM_001079673.1	44	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41886.1	130	MUTECT|MUSE	.	GAGAAGCATTT	NONE	.	.	hmmpanther:PTHR19900:SF38,hmmpanther:PTHR19900	.	.	ENSP00000417257	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000492622	Transcript	.	.	ENSG00000102531	20296	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(1)	.	FND3A_HUMAN	FNDC3A	HGNC	.	.	UPI0000229601	SNV	FNDC3A,missense_variant,p.Ala44Thr,ENST00000541916,;FNDC3A,missense_variant,p.Ala44Thr,ENST00000492622,;FNDC3A,missense_variant,p.Ala44Thr,ENST00000484074,;FNDC3A,non_coding_transcript_exon_variant,,ENST00000378383,;	435	370	255	SUCCESS
OR4K1	79544	.	GRCh37	14	20403852	20403852	+	synonymous_variant	Silent	SNP	G	G	A	rs1195199863	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	88	0	ENST00000285600.4:c.27G>A	p.Val9=	p.V9=	ENST00000285600	NM_001004063.2	9	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS32025.1	27	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGTCTGA	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF182,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000285600	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000285600	Transcript	.	.	ENSG00000155249	14726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4K1_HUMAN	OR4K1	HGNC	.	.	UPI0000041B4A	SNV	OR4K1,synonymous_variant,p.%3D,ENST00000285600,;	86	88	89	SUCCESS
FOXG1	2290	.	GRCh37	14	29236891	29236891	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1057520663	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	145	0	ENST00000313071.4:c.406G>T	p.Glu136Ter	p.E136*	ENST00000313071	NM_005249.4	136	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9636.1	406	MUTECT|MUSE	.	CGGGGGAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF8,hmmpanther:PTHR25042	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,stop_gained,p.Glu136Ter,ENST00000313071,;FOXG1,stop_gained,p.Glu136Ter,ENST00000382535,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	775	145	81	SUCCESS
VIPAS39	63894	.	GRCh37	14	77919642	77919642	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	26	88	0	ENST00000343765.2:c.196del	p.Ser66ValfsTer23	p.S66Vfs*23	ENST00000343765		66	Agt/gt	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS9862.1	196	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTACTTCCCA	NONE	.	.	hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6,Pfam_domain:PF09787	.	.	ENSP00000452181	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000553888	Transcript	.	.	ENSG00000151445	20347	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPE39_HUMAN	VIPAS39	HGNC	Q6IA61_HUMAN,G3V549_HUMAN	.	UPI00000735EF	deletion	VIPAS39,frameshift_variant,p.Ser66ValfsTer58,ENST00000448935,;VIPAS39,frameshift_variant,p.Ser66ValfsTer23,ENST00000343765,;VIPAS39,frameshift_variant,p.Ser66ValfsTer23,ENST00000327028,;VIPAS39,frameshift_variant,p.Ser92ValfsTer23,ENST00000556412,;VIPAS39,frameshift_variant,p.Ser66ValfsTer23,ENST00000553888,;VIPAS39,frameshift_variant,p.Ser66ValfsTer23,ENST00000557658,;VIPAS39,downstream_gene_variant,,ENST00000557466,;AHSA1,upstream_gene_variant,,ENST00000555517,;AHSA1,upstream_gene_variant,,ENST00000535854,;AHSA1,upstream_gene_variant,,ENST00000555133,;AHSA1,upstream_gene_variant,,ENST00000216479,;VIPAS39,downstream_gene_variant,,ENST00000556909,;VIPAS39,splice_region_variant,,ENST00000553691,;AHSA1,upstream_gene_variant,,ENST00000556963,;AHSA1,upstream_gene_variant,,ENST00000554156,;	707	88	93	SUCCESS
FSIP1	161835	.	GRCh37	15	40005705	40005705	+	synonymous_variant	Silent	SNP	G	G	C	rs557574177	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	90	0	ENST00000350221.3:c.1128C>G	p.Arg376=	p.R376=	ENST00000350221	NM_152597.4	376	cgC/cgG	0	.	A:0	.	A:0.0014	.	C	R	protein_coding	YES	CCDS10050.1	1128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGCGTTG	CODON|p.R376H|c.1127G>A|3	byFrequency|by1000G	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15554,hmmpanther:PTHR22012,hmmpanther:PTHR22012:SF1	A:0	.	ENSP00000280236	A:0	10/12	.	.	.	.	.	.	.	.	rs557574177	10/12	PASS	ENST00000350221	Transcript	.	A:0.0008	ENSG00000150667	21674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0031	.	.	FSIP1_HUMAN	FSIP1	HGNC	.	.	UPI000006F96D	SNV	FSIP1,synonymous_variant,p.%3D,ENST00000350221,;	1338	90	93	SUCCESS
HERC1	8925	.	GRCh37	15	63970130	63970130	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	79	0	ENST00000443617.2:c.6984T>C	p.Thr2328=	p.T2328=	ENST00000443617	NM_003922.3	2328	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS45277.1	6984	MUTECT|MUSE	.	CGCCCAGTTTG	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	37/78	.	.	.	.	.	.	.	.	.	37/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,synonymous_variant,p.%3D,ENST00000443617,;HERC1,synonymous_variant,p.%3D,ENST00000559715,;RP11-317G6.1,non_coding_transcript_exon_variant,,ENST00000559303,;	7072	79	57	SUCCESS
IGDCC4	57722	.	GRCh37	15	65694784	65694784	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	88	0	ENST00000352385.2:c.605T>C	p.Val202Ala	p.V202A	ENST00000352385	NM_020962.1	202	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10206.1	605	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAACATCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000319623	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.626)	.	deleterious(0.03)	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,missense_variant,p.Val202Ala,ENST00000352385,;	815	88	63	SUCCESS
KREMEN2	79412	.	GRCh37	16	3017810	3017810	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	118	0	ENST00000303746.5:c.1179-1G>C		p.X393_splice	ENST00000303746		393		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10483.1	.	MUTECT|MUSE	.	CTCTAGGAGCT	NONE	.	.	.	.	.	ENSP00000304422	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303746	Transcript	.	.	ENSG00000131650	18797	.	.	HIGH	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KREM2_HUMAN	KREMEN2	HGNC	.	.	UPI000006F428	SNV	KREMEN2,splice_acceptor_variant,,ENST00000303746,;KREMEN2,splice_acceptor_variant,,ENST00000319500,;KREMEN2,splice_acceptor_variant,,ENST00000571007,;KREMEN2,splice_acceptor_variant,,ENST00000575885,;KREMEN2,3_prime_UTR_variant,,ENST00000572045,;KREMEN2,3_prime_UTR_variant,,ENST00000575769,;PAQR4,upstream_gene_variant,,ENST00000572687,;PAQR4,upstream_gene_variant,,ENST00000576565,;PAQR4,upstream_gene_variant,,ENST00000293978,;PKMYT1,downstream_gene_variant,,ENST00000262300,;PAQR4,upstream_gene_variant,,ENST00000318782,;PAQR4,upstream_gene_variant,,ENST00000574988,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000431515,;PKMYT1,downstream_gene_variant,,ENST00000440027,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,downstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000572832,;	.	118	95	SUCCESS
CHST5	23563	.	GRCh37	16	75564992	75564992	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	68	0	ENST00000336257.3:c.-710C>T		p.*237*	ENST00000336257	NM_024533.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10919.1	.	MUTECT|MUSE|VARSCANS	.	GAGGCGGGCGG	NONE	.	.	.	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,5_prime_UTR_variant,,ENST00000336257,;CHST5,intron_variant,,ENST00000565039,;CHST5,intron_variant,,ENST00000541075,;RP11-77K12.7,intron_variant,,ENST00000460606,;	686	68	57	SUCCESS
CCL8	6355	.	GRCh37	17	32646478	32646478	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs200651459	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	35	0	ENST00000394620.1:c.-43A>G		p.*15*	ENST00000394620	NM_005623.2			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS11280.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAACCTTC	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000378118	G:0.002	1/3	.	.	.	.	.	.	.	.	rs200651459	1/3	PASS	ENST00000394620	Transcript	.	G:0.0004	ENSG00000108700	10635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CCL8_HUMAN	CCL8	HGNC	H0UIC7_HUMAN	.	UPI000002FE45	SNV	CCL8,5_prime_UTR_variant,,ENST00000394620,;	424	35	37	SUCCESS
GPR179	440435	.	GRCh37	17	36486669	36486669	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1287520441	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	42	0	ENST00000342292.4:c.2783T>A	p.Leu928Gln	p.L928Q	ENST00000342292	NM_001004334.2	928	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS42308.1	2783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGCCTT	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0.04)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Leu928Gln,ENST00000342292,;GPR179,upstream_gene_variant,,ENST00000584976,;	2804	42	50	SUCCESS
SRCIN1	80725	.	GRCh37	17	36714600	36714600	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	51	0	ENST00000264659.7:c.2064C>A	p.Arg688=	p.R688=	ENST00000264659	NM_025248.2	688	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS45660.1	2064	MUTECT|MUSE	.	TCCGTGCGCTT	NONE	.	.	hmmpanther:PTHR22741:SF5,hmmpanther:PTHR22741	.	.	ENSP00000264659	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000264659	Transcript	.	.	ENSG00000017373	29506	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRCN1_HUMAN	SRCIN1	HGNC	.	.	UPI0000E27F82	SNV	SRCIN1,synonymous_variant,p.%3D,ENST00000264659,;SRCIN1,synonymous_variant,p.%3D,ENST00000542707,;SRCIN1,synonymous_variant,p.%3D,ENST00000578925,;SRCIN1,downstream_gene_variant,,ENST00000584266,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000578160,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000398579,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000577193,;	2289	51	56	SUCCESS
STXBP4	252983	.	GRCh37	17	53077199	53077199	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1480428015	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	51	267	0	ENST00000376352.2:c.494G>T	p.Cys165Phe	p.C165F	ENST00000376352	NM_178509.5	165	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS11584.2	494	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGTGAGG	NONE	.	.	hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16	.	.	ENSP00000365530	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000376352	Transcript	.	.	ENSG00000166263	19694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.78)	.	STXB4_HUMAN	STXBP4	HGNC	.	.	UPI000050D3EE	SNV	STXBP4,missense_variant,p.Cys90Phe,ENST00000398391,;STXBP4,missense_variant,p.Cys165Phe,ENST00000405898,;STXBP4,missense_variant,p.Cys165Phe,ENST00000376352,;STXBP4,missense_variant,p.Cys90Phe,ENST00000299341,;STXBP4,missense_variant,p.Cys165Phe,ENST00000434978,;STXBP4,missense_variant,p.Cys8Phe,ENST00000463234,;	701	267	252	SUCCESS
EXOC7	23265	.	GRCh37	17	74084172	74084172	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	61	0	ENST00000335146.7:c.1484A>G	p.Lys495Arg	p.K495R	ENST00000335146		495	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS45782.1	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTTCGGC	NONE	.	.	Superfamily_domains:SSF74788,Pfam_domain:PF03081,hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	.	.	ENSP00000334100	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0.01)	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,missense_variant,p.Lys413Arg,ENST00000332065,;EXOC7,missense_variant,p.Lys495Arg,ENST00000335146,;EXOC7,missense_variant,p.Lys403Arg,ENST00000467929,;EXOC7,missense_variant,p.Lys436Arg,ENST00000411744,;EXOC7,missense_variant,p.Lys444Arg,ENST00000589210,;EXOC7,missense_variant,p.Lys467Arg,ENST00000405575,;EXOC7,missense_variant,p.Lys467Arg,ENST00000607838,;EXOC7,missense_variant,p.Lys399Arg,ENST00000357231,;EXOC7,3_prime_UTR_variant,,ENST00000592559,;EXOC7,non_coding_transcript_exon_variant,,ENST00000486053,;EXOC7,non_coding_transcript_exon_variant,,ENST00000467586,;EXOC7,upstream_gene_variant,,ENST00000494787,;ZACN,downstream_gene_variant,,ENST00000590045,;EXOC7,upstream_gene_variant,,ENST00000465252,;EXOC7,downstream_gene_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000460476,;	1538	61	60	SUCCESS
TP53	7157	.	GRCh37	17	7578461	7578461	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121912654	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	42	110	0	ENST00000269305.4:c.469G>T	p.Val157Phe	p.V157F	ENST00000269305	NM_001126112.2	157	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS11118.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,pathogenic	GCGGACGCGGG	SITE|p.V157F|c.469G>T|7,SITE|p.V157F|c.469G>T|8,SITE|p.V157F|c.469G>T|22,SITE|p.V157F|c.469G>T|162,SITE|p.V157F|c.469G>T|22,SITE|p.V25F|c.73G>T|25,SITE|p.V64F|c.190G>T|22,CODON|p.0?|c.1_1182del1182|6,CODON|p.R158C|c.471_472CC>TT|6,CODON|p.V157V|c.471C>A|3,CODON|p.V157G|c.470T>G|9,CODON|p.V157D|c.470T>A|8,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.R158fs*11|c.472_475delCGCG|3,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157L|c.469G>C|6,BUFFER|p.V157I|c.469G>A|10,BUFFER|p.V157fs*13|c.468delC|3,BUFFER|p.R156P|c.467G>C|26,BUFFER|p.R63P|c.188G>C|4,BUFFER|p.R156H|c.467G>A|11,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R24P|c.71G>C|4,BUFFER|p.R156L|c.467G>T|3,BUFFER|p.P152fs*14|c.454_466del13|5,BUFFER|p.R156fs*14|c.466delC|9,BUFFER|p.R156S|c.466C>A|3,BUFFER|p.R156G|c.466C>G|3,BUFFER|p.R156C|c.466C>T|4,BUFFER|p.T155T|c.465C>T|4,BUFFER|p.T155N|c.464C>A|4,BUFFER|p.T155N|c.464C>A|5,BUFFER|p.T62N|c.185C>A|6,BUFFER|p.T155N|c.464C>A|25,BUFFER|p.T155I|c.464C>T|15,BUFFER|p.T23N|c.68C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G61V|c.182G>T|3,BUFFER|p.G22V|c.65G>T|4,BUFFER|p.G154D|c.461G>A|6,BUFFER|p.G154V|c.461G>T|38,BUFFER|p.T150fs*16|c.448_460del13|4,BUFFER|p.G154S|c.460G>A|9,BUFFER|p.P153P|c.459C>T|6,BUFFER|p.P153L|c.458C>T|6	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs121912654,TP53_g.12457del,TP53_g.12457G>A,TP53_g.12457G>C,TP53_g.12457G>T,COSM10670,COSM43625,COSM45120,COSM131480,COSM131481,COSM131483,COSM3388217,COSM1679513,COSM131482	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Val157Phe,ENST00000508793,;TP53,missense_variant,p.Val157Phe,ENST00000413465,;TP53,missense_variant,p.Val157Phe,ENST00000420246,;TP53,missense_variant,p.Val157Phe,ENST00000269305,;TP53,missense_variant,p.Val25Phe,ENST00000509690,;TP53,missense_variant,p.Val157Phe,ENST00000359597,;TP53,missense_variant,p.Val64Phe,ENST00000514944,;TP53,missense_variant,p.Val157Phe,ENST00000445888,;TP53,missense_variant,p.Val157Phe,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	659	110	101	SUCCESS
FASN	2194	.	GRCh37	17	80038728	80038728	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	7	99	0	ENST00000306749.2:c.6666G>T	p.Leu2222=	p.L2222=	ENST00000306749	NM_004104.4	2222	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11801.1	6666	MUTECT|MUSE|VARSCANS	.	ACCAGCAGGGA	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227	.	.	ENSP00000304592	.	39/43	.	.	.	.	.	.	.	.	.	39/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	6885	99	88	SUCCESS
MYH10	4628	.	GRCh37	17	8383477	8383477	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	49	0	ENST00000269243.4:c.5455C>T	p.Leu1819=	p.L1819=	ENST00000269243	NM_005964.3	1819	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS58515.1	5548	MUTECT|MUSE|VARSCANS	.	CTCCAGGGCTG	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000353590	.	40/43	.	.	.	.	.	.	.	.	.	40/43	PASS	ENST00000360416	Transcript	.	.	ENSG00000133026	7568	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYH10_HUMAN	MYH10	HGNC	Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN	.	UPI0000E24926	SNV	MYH10,synonymous_variant,p.%3D,ENST00000396239,;MYH10,synonymous_variant,p.%3D,ENST00000269243,;MYH10,synonymous_variant,p.%3D,ENST00000379980,;MYH10,synonymous_variant,p.%3D,ENST00000360416,;NDEL1,intron_variant,,ENST00000299734,;NDEL1,intron_variant,,ENST00000581679,;MYH10,non_coding_transcript_exon_variant,,ENST00000476737,;	5687	49	42	SUCCESS
RNF152	220441	.	GRCh37	18	59483459	59483459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs561051015	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	113	0	ENST00000312828.3:c.238G>A	p.Ala80Thr	p.A80T	ENST00000312828	NM_173557.2	80	Gcc/Acc	0	.	T:0	.	T:0.0029	.	T	A/T	protein_coding	YES	CCDS11978.1	238	MUTECT|MUSE	.	AATGGCGATGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF205,Gene3D:3.30.40.10	T:0	.	ENSP00000316628	T:0	2/2	.	.	.	.	.	.	.	.	rs561051015	2/2	PASS	ENST00000312828	Transcript	.	T:0.0004	ENSG00000176641	26811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	T:0	tolerated(0.59)	.	RN152_HUMAN	RNF152	HGNC	K7EMG3_HUMAN	.	UPI000006D093	SNV	RNF152,missense_variant,p.Ala80Thr,ENST00000591306,;RNF152,missense_variant,p.Ala80Thr,ENST00000312828,;	1338	113	77	SUCCESS
DPY19L3	147991	.	GRCh37	19	32930029	32930029	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	83	0	ENST00000342179.5:c.608C>T	p.Thr203Ile	p.T203I	ENST00000342179	NM_207325.2	203	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS12422.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACAAGAG	NONE	.	.	hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF4,Pfam_domain:PF10034	.	.	ENSP00000344937	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000342179	Transcript	.	.	ENSG00000178904	27120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	D19L3_HUMAN	DPY19L3	HGNC	K7ELG1_HUMAN	.	UPI00001C10BE	SNV	DPY19L3,missense_variant,p.Thr203Ile,ENST00000342179,;DPY19L3,missense_variant,p.Thr203Ile,ENST00000392250,;DPY19L3,missense_variant,p.Thr203Ile,ENST00000586987,;DPY19L3,downstream_gene_variant,,ENST00000586427,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000585597,;DPY19L3,upstream_gene_variant,,ENST00000588648,;	823	83	106	SUCCESS
FZR1	51343	.	GRCh37	19	3531921	3531921	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	67	0	ENST00000395095.3:c.836G>A	p.Trp279Ter	p.W279*	ENST00000395095	NM_001136198.1	279	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS45916.1	836	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGGAATG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19918:SF6,hmmpanther:PTHR19918,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000378529	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,stop_gained,p.Trp190Ter,ENST00000313639,;FZR1,stop_gained,p.Trp279Ter,ENST00000395095,;FZR1,stop_gained,p.Trp279Ter,ENST00000441788,;FZR1,stop_gained,p.Trp279Ter,ENST00000591290,;FZR1,upstream_gene_variant,,ENST00000588084,;FZR1,downstream_gene_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000586212,;FZR1,downstream_gene_variant,,ENST00000592214,;	836	67	50	SUCCESS
RYR1	6261	.	GRCh37	19	38960049	38960049	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	70	0	ENST00000359596.3:c.3661G>T	p.Gly1221Cys	p.G1221C	ENST00000359596		1221	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS33011.1	3661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGGCTTC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	27/106	.	.	.	.	.	.	.	.	.	27/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gly1221Cys,ENST00000355481,;RYR1,missense_variant,p.Gly1221Cys,ENST00000360985,;RYR1,missense_variant,p.Gly1221Cys,ENST00000359596,;RYR1,downstream_gene_variant,,ENST00000594111,;	3661	70	88	SUCCESS
TGFB1	7040	.	GRCh37	19	41858864	41858864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199758510	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	63	0	ENST00000221930.5:c.86G>A	p.Gly29Glu	p.G29E	ENST00000221930	NM_000660.4	29	gGa/gAa	0	T:0.0005	T:0.0008	.	T:0	.	T	G/E	protein_coding	YES	CCDS33031.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTCCCGCG	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848:SF125,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423,Prints_domain:PR01424	T:0	T:0.0004	ENSP00000221930	T:0.001	1/7	.	.	.	.	.	.	.	.	rs199758510,CM090931,CM090932,COSM4140675	1/7	PASS	ENST00000221930	Transcript	1	T:0.0004	ENSG00000105329	11766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.576)	T:0	deleterious(0.04)	0,0,0,1	TGFB1_HUMAN	TGFB1	HGNC	Q7Z488_HUMAN,Q7Z487_HUMAN,Q5PY19_HUMAN	.	UPI000013C7E1	SNV	TGFB1,missense_variant,p.Gly29Glu,ENST00000221930,;TMEM91,intron_variant,,ENST00000539627,;TMEM91,upstream_gene_variant,,ENST00000604123,;B9D2,downstream_gene_variant,,ENST00000243578,;CTC-435M10.3,intron_variant,,ENST00000604424,;TGFB1,upstream_gene_variant,,ENST00000597453,;B9D2,downstream_gene_variant,,ENST00000594416,;	953	63	61	SUCCESS
POU2F2	5452	.	GRCh37	19	42596037	42596037	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	31	0	ENST00000526816.2:c.1400+184C>A		p.*467*	ENST00000526816				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGGTTGT	NONE	.	.	.	.	.	ENSP00000431603	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000526816	Transcript	.	.	ENSG00000028277	9213	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO2F2_HUMAN	POU2F2	HGNC	Q9UMJ4_HUMAN,Q9UMI6_HUMAN	.	UPI0000186851	SNV	POU2F2,missense_variant,p.Pro470Thr,ENST00000533720,;POU2F2,missense_variant,p.Pro82Thr,ENST00000533548,;POU2F2,missense_variant,p.Pro488Thr,ENST00000560804,;POU2F2,missense_variant,p.Pro486Thr,ENST00000342301,;POU2F2,3_prime_UTR_variant,,ENST00000529952,;POU2F2,intron_variant,,ENST00000560398,;POU2F2,intron_variant,,ENST00000526816,;POU2F2,intron_variant,,ENST00000389341,;POU2F2,intron_variant,,ENST00000529067,;POU2F2,intron_variant,,ENST00000560558,;POU2F2,downstream_gene_variant,,ENST00000528894,;POU2F2,downstream_gene_variant,,ENST00000598842,;POU2F2,downstream_gene_variant,,ENST00000526831,;POU2F2,intron_variant,,ENST00000534559,;	.	31	24	SUCCESS
NANOS2	339345	.	GRCh37	19	46417989	46417989	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	100	0	ENST00000341294.2:c.-38G>A		p.*13*	ENST00000341294	NM_001029861.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33056.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCTGGGG	NONE	.	.	.	.	.	ENSP00000341021	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341294	Transcript	.	.	ENSG00000188425	23292	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANO2_HUMAN	NANOS2	HGNC	.	.	UPI00001984F7	SNV	NANOS2,5_prime_UTR_variant,,ENST00000341294,;	48	100	97	SUCCESS
GLTSCR1	0	.	GRCh37	19	48185376	48185376	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	18	91	0	ENST00000396720.3:c.2250C>G	p.Pro750=	p.P750=	ENST00000396720	NM_015711.3	750	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46134.1	2250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCGACAG	NONE	.	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572,Low_complexity_(Seg):seg	.	.	ENSP00000379946	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;GLTSCR1,downstream_gene_variant,,ENST00000594866,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	2444	91	104	SUCCESS
IL4I1	259307	.	GRCh37	19	50397537	50397537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	66	0	ENST00000391826.2:c.555G>T	p.Met185Ile	p.M185I	ENST00000391826	NM_152899.1	185	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS12786.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCATCTG	NONE	.	.	hmmpanther:PTHR10742:SF21,hmmpanther:PTHR10742,Pfam_domain:PF01593,Gene3D:1.10.405.10,Superfamily_domains:SSF51905	.	.	ENSP00000472474	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000595948	Transcript	.	.	ENSG00000104951	19094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	tolerated(0.17)	.	OXLA_HUMAN	IL4I1	HGNC	M0R1L1_HUMAN	.	UPI00001678CE	SNV	IL4I1,missense_variant,p.Met207Ile,ENST00000341114,;IL4I1,missense_variant,p.Met207Ile,ENST00000595948,;IL4I1,missense_variant,p.Met148Ile,ENST00000593956,;IL4I1,missense_variant,p.Met185Ile,ENST00000391826,;IL4I1,downstream_gene_variant,,ENST00000596022,;IL4I1,downstream_gene_variant,,ENST00000597295,;IL4I1,downstream_gene_variant,,ENST00000596011,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;	1242	66	77	SUCCESS
KLK6	5653	.	GRCh37	19	51466671	51466671	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs553226234	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	68	0	ENST00000310157.2:c.332G>T	p.Arg111Leu	p.R111L	ENST00000310157	NM_002774.3	111	cGc/cTc	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS12811.1	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCGCAAC	CODON|p.R111H|c.332G>A|3	byCluster|by1000G	.	Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24271:SF19,hmmpanther:PTHR24271,PROSITE_profiles:PS50240	T:0	.	ENSP00000366047	T:0	4/6	.	.	.	.	.	.	.	.	rs553226234,COSM999880	4/6	PASS	ENST00000376851	Transcript	.	T:0.0002	ENSG00000167755	6367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.528)	T:0.001	deleterious(0)	0,1	KLK6_HUMAN	KLK6	HGNC	.	.	UPI000004CA06	SNV	KLK6,missense_variant,p.Arg111Leu,ENST00000310157,;KLK6,missense_variant,p.Arg4Leu,ENST00000456750,;KLK6,missense_variant,p.Arg111Leu,ENST00000376851,;KLK6,missense_variant,p.Arg111Leu,ENST00000594641,;KLK6,missense_variant,p.Arg4Leu,ENST00000391808,;KLK6,intron_variant,,ENST00000376853,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,non_coding_transcript_exon_variant,,ENST00000601506,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;CTB-147C22.9,upstream_gene_variant,,ENST00000594512,;KLK6,3_prime_UTR_variant,,ENST00000599690,;KLK6,3_prime_UTR_variant,,ENST00000597379,;KLK6,3_prime_UTR_variant,,ENST00000599881,;	772	68	91	SUCCESS
ZNF616	90317	.	GRCh37	19	52618477	52618477	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	89	0	ENST00000600228.1:c.1940A>G	p.His647Arg	p.H647R	ENST00000600228	NM_178523.3	647	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS33090.1	1940	MUTECT|MUSE|VARSCANS	.	TAAGATGGACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF275,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000600228	Transcript	.	.	ENSG00000204611	28062	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.089)	.	tolerated(0.38)	.	ZN616_HUMAN	ZNF616	HGNC	M0QXF0_HUMAN	.	UPI0000140D49	SNV	ZNF616,missense_variant,p.His647Arg,ENST00000600228,;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;CTC-471J1.10,upstream_gene_variant,,ENST00000603942,;	2202	89	98	SUCCESS
HSD11B1L	374875	.	GRCh37	19	5687964	5687964	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs750688958	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	105	0	ENST00000423665.2:c.706G>C	p.Gly236Arg	p.G236R	ENST00000423665	NM_198533.2	236	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS45931.1	706	MUTECT|MUSE|VARSCANS	.	ACCGGGGGGTG	NONE	.	.	.	.	.	ENSP00000407154	.	8/8	.	.	.	.	.	.	.	.	rs750688958	8/8	PASS	ENST00000423665	Transcript	.	.	ENSG00000167733	30419	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	deleterious(0)	.	DHI1L_HUMAN	HSD11B1L	HGNC	J3QSE6_HUMAN	.	UPI00001B2966	SNV	HSD11B1L,missense_variant,p.Gly155Arg,ENST00000577917,;HSD11B1L,missense_variant,p.Gly236Arg,ENST00000423665,;HSD11B1L,missense_variant,p.Gly102Arg,ENST00000411793,;HSD11B1L,synonymous_variant,p.%3D,ENST00000579559,;HSD11B1L,3_prime_UTR_variant,,ENST00000342970,;HSD11B1L,3_prime_UTR_variant,,ENST00000339423,;HSD11B1L,3_prime_UTR_variant,,ENST00000578046,;HSD11B1L,3_prime_UTR_variant,,ENST00000581521,;HSD11B1L,3_prime_UTR_variant,,ENST00000581893,;HSD11B1L,3_prime_UTR_variant,,ENST00000583928,;HSD11B1L,3_prime_UTR_variant,,ENST00000301382,;HSD11B1L,3_prime_UTR_variant,,ENST00000581773,;RPL36,intron_variant,,ENST00000579649,;RPL36,intron_variant,,ENST00000577222,;LONP1,downstream_gene_variant,,ENST00000590729,;RPL36,upstream_gene_variant,,ENST00000347512,;LONP1,downstream_gene_variant,,ENST00000360614,;RPL36,upstream_gene_variant,,ENST00000579446,;RPL36,upstream_gene_variant,,ENST00000394580,;LONP1,downstream_gene_variant,,ENST00000593119,;LONP1,downstream_gene_variant,,ENST00000540670,;HSD11B1L,downstream_gene_variant,,ENST00000577257,;LONP1,downstream_gene_variant,,ENST00000585374,;LONP1,downstream_gene_variant,,ENST00000589473,;RPL36,upstream_gene_variant,,ENST00000582463,;HSD11B1L,downstream_gene_variant,,ENST00000422535,;RPL36,intron_variant,,ENST00000582380,;HSD11B1L,downstream_gene_variant,,ENST00000577701,;HSD11B1L,3_prime_UTR_variant,,ENST00000579562,;HSD11B1L,non_coding_transcript_exon_variant,,ENST00000581423,;HSD11B1L,non_coding_transcript_exon_variant,,ENST00000578167,;LONP1,downstream_gene_variant,,ENST00000590558,;HSD11B1L,downstream_gene_variant,,ENST00000578832,;HSD11B1L,downstream_gene_variant,,ENST00000584904,;LONP1,downstream_gene_variant,,ENST00000587552,;HSD11B1L,downstream_gene_variant,,ENST00000577920,;HSD11B1L,downstream_gene_variant,,ENST00000582346,;RPL36,upstream_gene_variant,,ENST00000590786,;	956	105	72	SUCCESS
CATSPERD	257062	.	GRCh37	19	5778649	5778649	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373865922	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	9	167	0	ENST00000381624.3:c.2359C>T	p.Arg787Cys	p.R787C	ENST00000381624	NM_152784.3	787	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS12149.2	2359	MUTECT|MUSE	.	CGGGACGCCAC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000371037	.	22/22	.	.	.	.	.	.	.	.	rs373865922	22/22	PASS	ENST00000381624	Transcript	.	.	ENSG00000174898	28598	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.649)	.	deleterious_low_confidence(0.02)	.	CTSRD_HUMAN	CATSPERD	HGNC	.	.	UPI000059D641	SNV	CATSPERD,missense_variant,p.Arg787Cys,ENST00000381624,;PRR22,downstream_gene_variant,,ENST00000390672,;PRR22,downstream_gene_variant,,ENST00000419421,;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,downstream_gene_variant,,ENST00000448307,;	2420	167	130	SUCCESS
SH2D3A	10045	.	GRCh37	19	6755043	6755043	+	synonymous_variant	Silent	SNP	G	G	A	rs145201987	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	73	0	ENST00000245908.6:c.780C>T	p.Ala260=	p.A260=	ENST00000245908	NM_005490.2	260	gcC/gcT	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS12173.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGGCCTC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14247	.	A:0.0001	ENSP00000245908	.	5/10	.	.	.	.	.	.	.	.	rs145201987	5/10	PASS	ENST00000245908	Transcript	.	.	ENSG00000125731	16885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH23A_HUMAN	SH2D3A	HGNC	.	.	UPI000006FD60	SNV	SH2D3A,synonymous_variant,p.%3D,ENST00000245908,;SH2D3A,synonymous_variant,p.%3D,ENST00000437152,;SH2D3A,intron_variant,,ENST00000597687,;TRIP10,downstream_gene_variant,,ENST00000313285,;TRIP10,downstream_gene_variant,,ENST00000596758,;TRIP10,downstream_gene_variant,,ENST00000600428,;TRIP10,downstream_gene_variant,,ENST00000313244,;CTD-3128G10.6,upstream_gene_variant,,ENST00000594056,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000597254,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000599563,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000597168,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000595305,;TRIP10,downstream_gene_variant,,ENST00000598843,;SH2D3A,downstream_gene_variant,,ENST00000595369,;TRIP10,downstream_gene_variant,,ENST00000600677,;	1050	73	49	SUCCESS
MUC16	94025	.	GRCh37	19	9067090	9067090	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	4	102	0	ENST00000397910.4:c.20356G>T	p.Glu6786Ter	p.E6786*	ENST00000397910	NM_024690.2	6786	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS54212.1	20356	MUTECT|MUSE	.	AATCTCAGGGT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Glu6786Ter,ENST00000397910,;	20560	102	95	SUCCESS
COL11A1	1301	.	GRCh37	1	103491357	103491357	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	60	0	ENST00000370096.3:c.898-188A>T		p.*300*	ENST00000370096	NM_001854.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS778.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTTTACC	NONE	.	.	.	.	.	ENSP00000359114	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODIFIER	6/66	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Lys311Met,ENST00000427239,;COL11A1,missense_variant,p.Lys311Met,ENST00000358392,;COL11A1,intron_variant,,ENST00000512756,;COL11A1,intron_variant,,ENST00000353414,;COL11A1,intron_variant,,ENST00000370096,;	.	60	57	SUCCESS
HSD3B1	3283	.	GRCh37	1	120057095	120057095	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs587764853	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	36	122	0	ENST00000369413.3:c.949C>T	p.Arg317Cys	p.R317C	ENST00000369413		317	Cgc/Tgc	0	.	T:0.0008,T:0.0008	.	T:0,T:0	.	T	R/C	protein_coding	YES	CCDS903.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACCGCCAC	NONE	by1000G	.	hmmpanther:PTHR10366:SF296,hmmpanther:PTHR10366,Superfamily_domains:SSF51735	T:0,T:0	.	ENSP00000358421	T:0,T:0	4/4	.	.	.	.	.	.	.	.	rs587764853,rs759187378	4/4	PASS	ENST00000369413	Transcript	.	T:0.0002	ENSG00000203857	5217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	T:0,T:0	tolerated(0.06)	.	3BHS1_HUMAN	HSD3B1	HGNC	E9PRN7_HUMAN	.	UPI0000036BD2	SNV	HSD3B1,missense_variant,p.Arg317Cys,ENST00000528909,;HSD3B1,missense_variant,p.Arg319Cys,ENST00000235547,;HSD3B1,missense_variant,p.Arg317Cys,ENST00000369413,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;	1094	122	153	SUCCESS
RPRD2	23248	.	GRCh37	1	150443896	150443896	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	8	105	0	ENST00000369068.4:c.2472T>G	p.Asp824Glu	p.D824E	ENST00000369068	NM_015203.3	824	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS44216.1	2472	MUTECT|MUSE	.	CCAGATACTTC	NONE	.	.	hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0	.	.	ENSP00000358064	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000369068	Transcript	.	.	ENSG00000163125	29039	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	RPRD2_HUMAN	RPRD2	HGNC	.	.	UPI00001D7CA8	SNV	RPRD2,missense_variant,p.Asp824Glu,ENST00000369068,;RPRD2,missense_variant,p.Asp798Glu,ENST00000539519,;RPRD2,missense_variant,p.Asp798Glu,ENST00000401000,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	2476	105	148	SUCCESS
RGS18	64407	.	GRCh37	1	192153515	192153515	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	209	33	175	0	ENST00000367460.3:c.539T>A	p.Val180Glu	p.V180E	ENST00000367460	NM_130782.2	180	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS1374.1	539	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTGTATC	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF153,hmmpanther:PTHR10845,Gene3D:1.10.167.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000356430	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367460	Transcript	.	.	ENSG00000150681	14261	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGS18_HUMAN	RGS18	HGNC	.	.	UPI0000044571	SNV	RGS18,missense_variant,p.Val180Glu,ENST00000367460,;RGS18,downstream_gene_variant,,ENST00000492967,;	720	175	242	SUCCESS
CFHR4	10877	.	GRCh37	1	196876513	196876513	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	592	13	381	0	ENST00000367416.2:c.681A>C	p.Lys227Asn	p.K227N	ENST00000367416	NM_001201551.1	227	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS55671.1	681	MUTECT|MUSE	.	CAAAAAGTGTA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356386	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367416	Transcript	.	.	ENSG00000134365	16979	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.908)	.	tolerated(0.28)	.	FHR4_HUMAN	CFHR4	HGNC	.	.	UPI0001F6C576	SNV	CFHR4,missense_variant,p.Lys227Asn,ENST00000367416,;CFHR4,intron_variant,,ENST00000367418,;CFHR2,intron_variant,,ENST00000367421,;CFHR4,intron_variant,,ENST00000251424,;CFHR4,intron_variant,,ENST00000608469,;	818	381	605	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200827018	200827018	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	343	68	255	0	ENST00000236925.4:c.4301C>T	p.Thr1434Ile	p.T1434I	ENST00000236925		1434	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1404.1	4268	RADIA|MUTECT|MUSE|VARSCANS	.	TATCACTAAAA	BUFFER|p.M1426fs*1|c.4270delA|7	.	.	Superfamily_domains:SSF50346,SMART_domains:SM01051,Pfam_domain:PF08683,hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595,PROSITE_profiles:PS51508	.	.	ENSP00000351684	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.69)	.	deleterious(0)	.	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	SNV	CAMSAP2,missense_variant,p.Thr1407Ile,ENST00000413307,;CAMSAP2,missense_variant,p.Thr1423Ile,ENST00000358823,;CAMSAP2,missense_variant,p.Thr1434Ile,ENST00000236925,;CAMSAP2,downstream_gene_variant,,ENST00000475326,;CAMSAP2,downstream_gene_variant,,ENST00000447701,;	4538	255	412	SUCCESS
SYT2	127833	.	GRCh37	1	202568364	202568364	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	14	75	0	ENST00000367267.1:c.1035C>T	p.Ile345=	p.I345=	ENST00000367267	NM_001136504.1	345	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS1427.1	1035	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGATCTC	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024:SF208,hmmpanther:PTHR10024,PROSITE_profiles:PS50004	.	.	ENSP00000356236	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000367267	Transcript	.	.	ENSG00000143858	11510	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYT2_HUMAN	SYT2	HGNC	.	.	UPI000006E8FC	SNV	SYT2,synonymous_variant,p.%3D,ENST00000367267,;SYT2,synonymous_variant,p.%3D,ENST00000367268,;	1228	75	99	SUCCESS
KLHDC8A	55220	.	GRCh37	1	205308358	205308358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	89	0	ENST00000367155.3:c.721T>C	p.Phe241Leu	p.F241L	ENST00000367155	NM_018203.2	241	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS30985.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAACTTGG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF123,Gene3D:1zgkA00,Superfamily_domains:0047741	.	.	ENSP00000356124	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000367156	Transcript	.	.	ENSG00000162873	25573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0)	.	KLD8A_HUMAN	KLHDC8A	HGNC	U3KQK4_HUMAN,U3KQI4_HUMAN,U3KQH1_HUMAN,U3KQC2_HUMAN,U3KPX9_HUMAN,U3KPW1_HUMAN	.	UPI00000728EF	SNV	KLHDC8A,missense_variant,p.Phe241Leu,ENST00000367155,;KLHDC8A,missense_variant,p.Phe128Leu,ENST00000537168,;KLHDC8A,missense_variant,p.Phe241Leu,ENST00000367156,;KLHDC8A,missense_variant,p.Phe241Leu,ENST00000539253,;KLHDC8A,missense_variant,p.Phe107Leu,ENST00000606181,;KLHDC8A,missense_variant,p.Phe107Leu,ENST00000460687,;KLHDC8A,downstream_gene_variant,,ENST00000606887,;KLHDC8A,downstream_gene_variant,,ENST00000491471,;KLHDC8A,downstream_gene_variant,,ENST00000607173,;KLHDC8A,downstream_gene_variant,,ENST00000607826,;KLHDC8A,downstream_gene_variant,,ENST00000606529,;KLHDC8A,downstream_gene_variant,,ENST00000606111,;	1538	89	112	SUCCESS
CR1L	1379	.	GRCh37	1	207891003	207891003	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	296	9	196	0	ENST00000508064.2:c.1609C>A	p.Pro537Thr	p.P537T	ENST00000508064	NM_175710.1	537	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS44310.1	1609	MUTECT|MUSE	.	GCAGCCCTGCC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923	.	.	ENSP00000421736	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000508064	Transcript	.	.	ENSG00000197721	2335	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.867)	.	tolerated(0.07)	.	CR1L_HUMAN	CR1L	HGNC	.	.	UPI0000DD792A	SNV	CR1L,missense_variant,p.Pro537Thr,ENST00000508064,;CR1L,3_prime_UTR_variant,,ENST00000294997,;	1669	196	305	SUCCESS
SUSD4	55061	.	GRCh37	1	223536851	223536851	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	52	0	ENST00000343846.3:c.-84C>A		p.*28*	ENST00000343846				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41471.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGGGGCC	NONE	.	.	.	.	.	ENSP00000344219	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000343846	Transcript	.	.	ENSG00000143502	25470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SUSD4_HUMAN	SUSD4	HGNC	B7Z469_HUMAN	.	UPI0000205CB5	SNV	SUSD4,5_prime_UTR_variant,,ENST00000343846,;SUSD4,intron_variant,,ENST00000344029,;SUSD4,intron_variant,,ENST00000454695,;SUSD4,intron_variant,,ENST00000484758,;SUSD4,intron_variant,,ENST00000366877,;SUSD4,intron_variant,,ENST00000494793,;SUSD4,intron_variant,,ENST00000366878,;SUSD4,upstream_gene_variant,,ENST00000608996,;SUSD4,intron_variant,,ENST00000483818,;SUSD4,intron_variant,,ENST00000342943,;SUSD4,intron_variant,,ENST00000478605,;	551	52	101	SUCCESS
DNAH14	127602	.	GRCh37	1	225510413	225510413	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	352	14	224	0	ENST00000445597.2:c.7145T>C	p.Val2382Ala	p.V2382A	ENST00000445597		2382	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	.	.	7145	MUTECT|MUSE	.	TGCAGTGTGTA	NONE	.	.	Pfam_domain:PF12777,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676	.	.	ENSP00000409472	.	42/61	.	.	.	.	.	.	.	.	.	42/61	PASS	ENST00000445597	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0001642868	SNV	DNAH14,missense_variant,p.Val2382Ala,ENST00000445597,;DNAH14,missense_variant,p.Val3035Ala,ENST00000430092,;DNAH14,missense_variant,p.Val3035Ala,ENST00000439375,;DNAH14,missense_variant,p.Val833Ala,ENST00000327794,;	7145	224	366	SUCCESS
OBSCN	84033	.	GRCh37	1	228444576	228444576	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	214	75	175	0	ENST00000422127.1:c.4534T>C	p.Tyr1512His	p.Y1512H	ENST00000422127	NM_001098623.2	1512	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS59204.1	4810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGTACAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	16/116	.	.	.	.	.	.	.	.	.	16/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Tyr76His,ENST00000359599,;OBSCN,missense_variant,p.Tyr1512His,ENST00000284548,;OBSCN,missense_variant,p.Tyr1512His,ENST00000422127,;OBSCN,missense_variant,p.Tyr1604His,ENST00000570156,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;	4884	175	290	SUCCESS
CHRM3	1131	.	GRCh37	1	240071874	240071874	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	347	21	204	0	ENST00000255380.4:c.1123A>C	p.Ser375Arg	p.S375R	ENST00000255380	NM_000740.2	375	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS1616.1	1123	MUTECT|MUSE	.	GTCACAGCACC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Pfam_domain:PF00001,Prints_domain:PR00540	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.225)	.	tolerated(0.42)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Ser375Arg,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	1902	204	369	SUCCESS
EFCAB2	84288	.	GRCh37	1	245250690	245250690	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	6	96	0	ENST00000366522.2:c.781+3700A>T		p.*261*	ENST00000366522				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31082.1	.	MUTECT|MUSE	.	TTGAAAGAACA	NONE	.	.	.	.	.	ENSP00000355480	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000366523	Transcript	.	.	ENSG00000203666	28166	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFCB2_HUMAN	EFCAB2	HGNC	.	.	UPI000006E262	SNV	EFCAB2,3_prime_UTR_variant,,ENST00000366523,;EFCAB2,3_prime_UTR_variant,,ENST00000366521,;EFCAB2,intron_variant,,ENST00000447569,;EFCAB2,intron_variant,,ENST00000366522,;EFCAB2,downstream_gene_variant,,ENST00000551317,;EFCAB2,downstream_gene_variant,,ENST00000427529,;EFCAB2,downstream_gene_variant,,ENST00000425550,;EFCAB2,non_coding_transcript_exon_variant,,ENST00000473686,;EFCAB2,non_coding_transcript_exon_variant,,ENST00000495271,;EFCAB2,intron_variant,,ENST00000391837,;EFCAB2,intron_variant,,ENST00000487845,;EFCAB2,intron_variant,,ENST00000497591,;EFCAB2,downstream_gene_variant,,ENST00000549220,;	782	96	174	SUCCESS
OR2M3	127062	.	GRCh37	1	248367250	248367250	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1190528880	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	7	91	0	ENST00000456743.1:c.881A>G	p.Asn294Ser	p.N294S	ENST00000456743	NM_001004689.1	294	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS31107.1	881	MUTECT|MUSE	.	CCGCAACAAGG	NONE	.	.	Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453	.	.	ENSP00000389625	.	1/1	.	.	.	.	.	.	.	.	COSM1260156	1/1	PASS	ENST00000456743	Transcript	.	.	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.468)	.	deleterious(0.01)	1	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.Asn294Ser,ENST00000456743,;	919	91	151	SUCCESS
CSMD2	114784	.	GRCh37	1	34401517	34401517	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs750977806	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	120	0	ENST00000241312.4:c.436C>T	p.Pro146Ser	p.P146S	ENST00000241312		146	Ccc/Tcc	0	.	.	.	.	.	A	P/S	nonsense_mediated_decay	YES	CCDS380.1	436	MUTECT|MUSE	.	ATTGGGCAGCC	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	4/70	.	.	.	.	.	.	.	.	rs750977806	4/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.158)	.	tolerated(0.62)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Pro186Ser,ENST00000373381,;CSMD2,missense_variant,p.Pro146Ser,ENST00000241312,;	465	120	115	SUCCESS
NRD1	0	.	GRCh37	1	52306125	52306125	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	95	0	ENST00000354831.7:c.403G>C	p.Gly135Arg	p.G135R	ENST00000354831	NM_002525.2	135	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS559.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACCTTCCA	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108	.	.	ENSP00000346890	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.12)	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,missense_variant,p.Gly135Arg,ENST00000354831,;NRD1,missense_variant,p.Gly135Arg,ENST00000352171,;NRD1,missense_variant,p.Gly3Arg,ENST00000544028,;NRD1,missense_variant,p.Gly3Arg,ENST00000539524,;MIR761,upstream_gene_variant,,ENST00000390787,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000491410,;NRD1,upstream_gene_variant,,ENST00000475715,;	593	95	86	SUCCESS
WDR63	0	.	GRCh37	1	85589863	85589863	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	104	0	ENST00000294664.6:c.2041T>C	p.Ser681Pro	p.S681P	ENST00000294664	NM_145172.3	681	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS702.1	2041	RADIA|MUTECT|MUSE	.	AGAGATCACCT	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	.	.	ENSP00000294664	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000294664	Transcript	.	.	ENSG00000162643	30711	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	WDR63_HUMAN	WDR63	HGNC	.	.	UPI00000744F1	SNV	WDR63,missense_variant,p.Ser642Pro,ENST00000326813,;WDR63,missense_variant,p.Ser642Pro,ENST00000370596,;WDR63,missense_variant,p.Ser681Pro,ENST00000294664,;WDR63,upstream_gene_variant,,ENST00000484007,;WDR63,3_prime_UTR_variant,,ENST00000464801,;	2221	104	97	SUCCESS
GFI1	2672	.	GRCh37	1	92944171	92944171	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	8	154	0	ENST00000294702.5:c.1064T>C	p.Met355Thr	p.M355T	ENST00000294702	NM_005263.3	355	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS30773.1	1064	MUTECT|MUSE	.	TCTTCATGTCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF106,PROSITE_profiles:PS50157	.	.	ENSP00000359357	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000370332	Transcript	.	.	ENSG00000162676	4237	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	GFI1_HUMAN	GFI1	HGNC	D3DT36_HUMAN	.	UPI000006D7FD	SNV	GFI1,missense_variant,p.Met355Thr,ENST00000370332,;GFI1,missense_variant,p.Met355Thr,ENST00000294702,;GFI1,missense_variant,p.Met355Thr,ENST00000427103,;GFI1,downstream_gene_variant,,ENST00000483490,;	1383	154	167	SUCCESS
CCDC18	343099	.	GRCh37	1	93704961	93704961	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1370517665	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	375	16	375	0	ENST00000343253.7:c.2695A>G	p.Met899Val	p.M899V	ENST00000343253		899	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	.	2857	MUTECT|MUSE	.	AAGCAATGCAC	NONE	.	.	hmmpanther:PTHR18875:SF4,hmmpanther:PTHR18875	.	.	ENSP00000359299	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000370276	Transcript	.	.	ENSG00000122483	30370	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.52)	.	.	CCDC18	HGNC	.	.	UPI0001F78148	SNV	CCDC18,missense_variant,p.Met195Val,ENST00000334652,;CCDC18,missense_variant,p.Met575Val,ENST00000455267,;CCDC18,missense_variant,p.Met1018Val,ENST00000557479,;CCDC18,missense_variant,p.Met900Val,ENST00000401026,;CCDC18,missense_variant,p.Met899Val,ENST00000343253,;CCDC18,missense_variant,p.Met655Val,ENST00000338949,;CCDC18,missense_variant,p.Met953Val,ENST00000370276,;CCDC18,non_coding_transcript_exon_variant,,ENST00000421014,;	2856	375	391	SUCCESS
CNN3	1266	.	GRCh37	1	95363516	95363516	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1311062311	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	134	0	ENST00000370206.4:c.772A>G	p.Met258Val	p.M258V	ENST00000370206	NM_001839.3	258	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS30775.1	772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCATTCCTT	NONE	.	.	PROSITE_profiles:PS51122,hmmpanther:PTHR18959,PROSITE_patterns:PS01052,Pfam_domain:PF00402	.	.	ENSP00000359225	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370206	Transcript	.	.	ENSG00000117519	2157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0.03)	.	CNN3_HUMAN	CNN3	HGNC	Q9BWY6_HUMAN,E9PDU6_HUMAN,B4DFK6_HUMAN	.	UPI0000127B01	SNV	CNN3,missense_variant,p.Met212Val,ENST00000394202,;CNN3,missense_variant,p.Met217Val,ENST00000545882,;CNN3,missense_variant,p.Met258Val,ENST00000370206,;CNN3,missense_variant,p.Met258Val,ENST00000538964,;CNN3,downstream_gene_variant,,ENST00000415017,;SLC44A3,downstream_gene_variant,,ENST00000527077,;SLC44A3,downstream_gene_variant,,ENST00000532670,;SLC44A3,downstream_gene_variant,,ENST00000446120,;SLC44A3,downstream_gene_variant,,ENST00000271227,;SLC44A3,downstream_gene_variant,,ENST00000529450,;SLC44A3,downstream_gene_variant,,ENST00000532427,;SLC44A3,downstream_gene_variant,,ENST00000467909,;CNN3,non_coding_transcript_exon_variant,,ENST00000487539,;CNN3,non_coding_transcript_exon_variant,,ENST00000461018,;CNN3,downstream_gene_variant,,ENST00000474409,;SLC44A3,downstream_gene_variant,,ENST00000475883,;	1156	134	139	SUCCESS
MYH7B	57644	.	GRCh37	20	33575452	33575452	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371353626	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	25	148	0	ENST00000262873.7:c.1366G>A	p.Val456Met	p.V456M	ENST00000262873	NM_020884.3	456	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS42869.1	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACGTGACC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000262873	.	15/43	.	.	.	.	.	.	.	.	rs371353626	15/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,missense_variant,p.Val456Met,ENST00000262873,;MIR499A,upstream_gene_variant,,ENST00000384903,;	1458	148	123	SUCCESS
TOX2	84969	.	GRCh37	20	42697300	42697300	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	97	0	ENST00000358131.5:c.1441A>T	p.Arg481Trp	p.R481W	ENST00000358131	NM_001098798.1	481	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS46603.1	1495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGGGAC	NONE	.	.	.	.	.	ENSP00000344724	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341197	Transcript	.	.	ENSG00000124191	16095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TOX2_HUMAN	TOX2	HGNC	.	.	UPI000040F535	SNV	TOX2,missense_variant,p.Arg457Trp,ENST00000423191,;TOX2,missense_variant,p.Arg457Trp,ENST00000372999,;TOX2,missense_variant,p.Arg481Trp,ENST00000358131,;TOX2,missense_variant,p.Arg499Trp,ENST00000341197,;TOX2,synonymous_variant,p.%3D,ENST00000413823,;TOX2,non_coding_transcript_exon_variant,,ENST00000435864,;	1523	97	71	SUCCESS
NPEPL1	79716	.	GRCh37	20	57276110	57276110	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752056580	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	6	102	0	ENST00000356091.6:c.718G>T	p.Ala240Ser	p.A240S	ENST00000356091	NM_024663.3	240	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46621.1	718	MUTECT|MUSE	.	CCCCAGCCCTG	NONE	byFrequency	.	hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000348395	.	6/12	.	.	.	.	.	.	.	.	rs752056580	6/12	PASS	ENST00000356091	Transcript	.	.	ENSG00000215440	16244	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.93)	.	deleterious(0.04)	.	PEPL1_HUMAN	NPEPL1	HGNC	H0UI76_HUMAN	.	UPI000036789E	SNV	NPEPL1,missense_variant,p.Ala192Ser,ENST00000525817,;NPEPL1,missense_variant,p.Ala212Ser,ENST00000525967,;NPEPL1,missense_variant,p.Ala240Ser,ENST00000356091,;NPEPL1,missense_variant,p.Ala129Ser,ENST00000533788,;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,;	1006	102	134	SUCCESS
PHACTR3	116154	.	GRCh37	20	58381188	58381188	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	542	22	428	0	ENST00000371015.1:c.1267C>G	p.Pro423Ala	p.P423A	ENST00000371015	NM_080672.4	423	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS13480.1	1267	MUTECT|MUSE	.	TTTTCCCCAGA	NONE	.	.	SMART_domains:SM00707,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7,PROSITE_profiles:PS51073	.	.	ENSP00000360054	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Pro382Ala,ENST00000355648,;PHACTR3,missense_variant,p.Pro382Ala,ENST00000541461,;PHACTR3,missense_variant,p.Pro312Ala,ENST00000361300,;PHACTR3,missense_variant,p.Pro382Ala,ENST00000395636,;PHACTR3,missense_variant,p.Pro423Ala,ENST00000371015,;PHACTR3,missense_variant,p.Pro312Ala,ENST00000395639,;PHACTR3,missense_variant,p.Pro420Ala,ENST00000359926,;	1734	428	564	SUCCESS
COL9A3	1299	.	GRCh37	20	61453479	61453479	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373399710	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	306	66	293	0	ENST00000343916.3:c.440C>T	p.Pro147Leu	p.P147L	ENST00000343916	NM_001853.3	147	cCc/cTc	0	A:0.0002	.	.	.	.	T	P/L	protein_coding	YES	CCDS13505.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCCGGCC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF364,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	A:0	ENSP00000341640	.	9/32	.	.	.	.	.	.	.	.	rs373399710	9/32	PASS	ENST00000343916	Transcript	1	.	ENSG00000092758	2219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.11)	.	CO9A3_HUMAN	COL9A3	HGNC	Q96IF4_HUMAN	.	UPI0000126D51	SNV	COL9A3,missense_variant,p.Pro147Leu,ENST00000343916,;COL9A3,missense_variant,p.Pro110Leu,ENST00000452372,;COL9A3,non_coding_transcript_exon_variant,,ENST00000489045,;COL9A3,non_coding_transcript_exon_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000463487,;	443	293	372	SUCCESS
BCL2L13	23786	.	GRCh37	22	18171844	18171844	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	113	0	ENST00000317582.5:c.322G>C	p.Gly108Arg	p.G108R	ENST00000317582	NM_015367.3	108	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS13746.1	322	MUTECT|MUSE	.	ATCTTGGAGAA	NONE	.	.	Superfamily_domains:SSF56854,Gene3D:1.10.437.10,Pfam_domain:PF00452,hmmpanther:PTHR15758,PROSITE_profiles:PS50062	.	.	ENSP00000318883	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000317582	Transcript	.	.	ENSG00000099968	17164	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	B2L13_HUMAN	BCL2L13	HGNC	B2RB43_HUMAN	.	UPI000004F301	SNV	BCL2L13,missense_variant,p.Gly108Arg,ENST00000493680,;BCL2L13,missense_variant,p.Gly108Arg,ENST00000317582,;BCL2L13,missense_variant,p.Gly108Arg,ENST00000355028,;BCL2L13,missense_variant,p.Gly108Arg,ENST00000399782,;BCL2L13,3_prime_UTR_variant,,ENST00000418951,;BCL2L13,intron_variant,,ENST00000337612,;BCL2L13,intron_variant,,ENST00000543133,;BCL2L13,intron_variant,,ENST00000538149,;BCL2L13,non_coding_transcript_exon_variant,,ENST00000464649,;BCL2L13,intron_variant,,ENST00000399781,;BCL2L13,missense_variant,p.Gly3Arg,ENST00000399777,;BCL2L13,intron_variant,,ENST00000498133,;	669	113	111	SUCCESS
IGLV5-37	28783	.	GRCh37	22	22782367	22782367	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	53	0	ENST00000390300.2:c.365C>G	p.Ala122Gly	p.A122G	ENST00000390300		122	gCt/gGt	0	.	.	.	.	.	G	A/G	IG_V_gene	YES	.	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCTTCTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF147,SMART_domains:SM00409	.	.	ENSP00000374835	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390300	Transcript	.	.	ENSG00000211654	5922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.09)	.	.	IGLV5-37	HGNC	Q5NV68_HUMAN	.	UPI0000F30338	SNV	IGLV5-37,missense_variant,p.Ala122Gly,ENST00000390300,;IGLV1-36,upstream_gene_variant,,ENST00000390301,;IGLVI-38,downstream_gene_variant,,ENST00000519982,;	370	53	58	SUCCESS
PIWIL3	440822	.	GRCh37	22	25144937	25144937	+	synonymous_variant	Silent	SNP	G	G	T	rs770608514	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	76	0	ENST00000332271.5:c.1386C>A	p.Thr462=	p.T462=	ENST00000332271	NM_001255975.1	462	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33623.1	1386	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGGTATC	NONE	.	.	hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Superfamily_domains:SSF53098	.	.	ENSP00000330031	.	12/21	.	.	.	.	.	.	.	.	rs770608514	12/21	PASS	ENST00000332271	Transcript	.	.	ENSG00000184571	18443	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PIWL3_HUMAN	PIWIL3	HGNC	.	.	UPI00002073D6	SNV	PIWIL3,synonymous_variant,p.%3D,ENST00000332271,;PIWIL3,synonymous_variant,p.%3D,ENST00000527701,;PIWIL3,synonymous_variant,p.%3D,ENST00000533313,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;	1803	76	63	SUCCESS
MYO18B	84700	.	GRCh37	22	26222449	26222449	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	86	0	ENST00000536101.1:c.2769G>C	p.Val923=	p.V923=	ENST00000536101		923	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS54507.1	2769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGGTCTC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000334563	.	14/44	.	.	.	.	.	.	.	.	.	14/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	3019	86	84	SUCCESS
TUBGCP6	85378	.	GRCh37	22	50664306	50664306	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770218767	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	6	107	0	ENST00000248846.5:c.1900A>G	p.Lys634Glu	p.K634E	ENST00000248846		634	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14087.1	1900	MUTECT|MUSE	.	CTCCTTCAACT	NONE	.	.	Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32	.	.	ENSP00000248846	.	10/25	.	.	.	.	.	.	.	.	rs770218767	10/25	PASS	ENST00000248846	Transcript	.	.	ENSG00000128159	18127	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.525)	.	tolerated(0.33)	.	GCP6_HUMAN	TUBGCP6	HGNC	.	.	UPI000013CC55	SNV	TUBGCP6,missense_variant,p.Lys634Glu,ENST00000439308,;TUBGCP6,missense_variant,p.Lys634Glu,ENST00000248846,;TUBGCP6,downstream_gene_variant,,ENST00000434349,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000473946,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,upstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;	2005	107	84	SUCCESS
GREB1	9687	.	GRCh37	2	11773162	11773162	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	101	0	ENST00000234142.5:c.4964A>G	p.Asp1655Gly	p.D1655G	ENST00000234142		1655	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS42655.1	4964	MUTECT|MUSE|VARSCANS	.	GGTGGATGTCA	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	28/33	.	.	.	.	.	.	.	.	.	28/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.396)	.	deleterious(0.02)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Asp1655Gly,ENST00000234142,;GREB1,missense_variant,p.Asp653Gly,ENST00000396123,;GREB1,missense_variant,p.Asp1655Gly,ENST00000381486,;	5264	101	61	SUCCESS
LPIN1	23175	.	GRCh37	2	11911691	11911691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	21	160	0	ENST00000256720.2:c.482A>G	p.Lys161Arg	p.K161R	ENST00000256720	NM_145693.2	161	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS58699.1	629	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAGTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181	.	.	ENSP00000397908	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000449576	Transcript	.	.	ENSG00000134324	13345	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.686)	.	tolerated(0.29)	.	.	LPIN1	HGNC	F5GY24_HUMAN,C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN	.	UPI0002064F62	SNV	LPIN1,missense_variant,p.Lys167Arg,ENST00000396099,;LPIN1,missense_variant,p.Lys210Arg,ENST00000449576,;LPIN1,missense_variant,p.Lys161Arg,ENST00000256720,;LPIN1,missense_variant,p.Lys167Arg,ENST00000425416,;LPIN1,missense_variant,p.Lys167Arg,ENST00000396098,;LPIN1,downstream_gene_variant,,ENST00000441684,;MIR548S,downstream_gene_variant,,ENST00000581352,;	682	160	147	SUCCESS
GALNT5	11227	.	GRCh37	2	158115035	158115035	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	76	0	ENST00000259056.4:c.441A>G	p.Arg147=	p.R147=	ENST00000259056	NM_014568.1	147	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS2203.1	441	RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGAGGCAC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16	.	.	ENSP00000259056	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000259056	Transcript	.	.	ENSG00000136542	4127	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GALT5_HUMAN	GALNT5	HGNC	Q68VJ5_HUMAN	.	UPI000019AD19	SNV	GALNT5,synonymous_variant,p.%3D,ENST00000259056,;	926	76	77	SUCCESS
RHOB	388	.	GRCh37	2	20647549	20647549	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	9	213	0	ENST00000272233.4:c.323C>T	p.Pro108Leu	p.P108L	ENST00000272233	NM_004040.2	108	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1699.1	323	MUTECT|MUSE	.	CTGTCCCAATG	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF100,hmmpanther:PTHR24072,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000272233	.	1/1	.	.	.	.	.	.	.	.	COSM356895	1/1	PASS	ENST00000272233	Transcript	.	.	ENSG00000143878	668	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.753)	.	deleterious(0.02)	1	RHOB_HUMAN	RHOB	HGNC	B4DMJ8_HUMAN	.	UPI0000021989	SNV	RHOB,missense_variant,p.Pro108Leu,ENST00000272233,;AC023137.2,upstream_gene_variant,,ENST00000448241,;	715	213	151	SUCCESS
IDH1	3417	.	GRCh37	2	209108256	209108256	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs374340555	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	61	0	ENST00000345146.2:c.593A>C	p.Gln198Pro	p.Q198P	ENST00000345146	NM_005896.2	198	cAa/cCa	0	C:0	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2381.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTTGGAAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	C:0.0001	ENSP00000390265	.	6/10	.	.	.	.	.	.	.	.	rs374340555	6/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	deleterious_low_confidence(0.01)	.	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Gln198Pro,ENST00000415913,;IDH1,missense_variant,p.Gln198Pro,ENST00000345146,;IDH1,missense_variant,p.Gln198Pro,ENST00000446179,;IDH1,downstream_gene_variant,,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000462386,;IDH1,upstream_gene_variant,,ENST00000484575,;	975	61	53	SUCCESS
TNS1	7145	.	GRCh37	2	218713775	218713775	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	54	0	ENST00000171887.4:c.1090A>T	p.Ser364Cys	p.S364C	ENST00000171887	NM_022648.4	364	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2407.1	1090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTCCCAT	NONE	.	.	hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	.	.	ENSP00000171887	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000171887	Transcript	.	.	ENSG00000079308	11973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.759)	.	deleterious(0)	.	TENS1_HUMAN	TNS1	HGNC	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN	.	UPI0000456EEB	SNV	TNS1,missense_variant,p.Ser432Cys,ENST00000413554,;TNS1,missense_variant,p.Ser364Cys,ENST00000171887,;TNS1,missense_variant,p.Ser364Cys,ENST00000430930,;TNS1,missense_variant,p.Ser489Cys,ENST00000446903,;TNS1,missense_variant,p.Ser364Cys,ENST00000419504,;TNS1,non_coding_transcript_exon_variant,,ENST00000480665,;TNS1,non_coding_transcript_exon_variant,,ENST00000479185,;	1543	54	61	SUCCESS
AAMP	14	.	GRCh37	2	219134819	219134819	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs28372705	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	148	0	ENST00000248450.4:c.-10C>A		p.*4*	ENST00000248450				0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS33378.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAAGCGGCG	NONE	byFrequency|byCluster|by1000G	.	.	A:0.003	.	ENSP00000248450	A:0.001	1/11	.	.	.	.	.	.	.	.	rs28372705	1/11	PASS	ENST00000248450	Transcript	.	A:0.0028	ENSG00000127837	18	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.0102	.	.	AAMP_HUMAN	AAMP	HGNC	C9JTS3_HUMAN	.	UPI0000209584	SNV	AAMP,5_prime_UTR_variant,,ENST00000444053,;AAMP,5_prime_UTR_variant,,ENST00000248450,;AAMP,upstream_gene_variant,,ENST00000422731,;TMBIM1,downstream_gene_variant,,ENST00000444881,;TMBIM1,downstream_gene_variant,,ENST00000396809,;TMBIM1,downstream_gene_variant,,ENST00000258412,;AAMP,upstream_gene_variant,,ENST00000420660,;TMBIM1,downstream_gene_variant,,ENST00000445635,;PNKD,upstream_gene_variant,,ENST00000248451,;AAMP,upstream_gene_variant,,ENST00000447885,;PNKD,upstream_gene_variant,,ENST00000273077,;PNKD,upstream_gene_variant,,ENST00000472650,;AAMP,non_coding_transcript_exon_variant,,ENST00000461911,;AAMP,non_coding_transcript_exon_variant,,ENST00000489767,;AAMP,upstream_gene_variant,,ENST00000465442,;AAMP,upstream_gene_variant,,ENST00000475678,;AAMP,upstream_gene_variant,,ENST00000494720,;PNKD,upstream_gene_variant,,ENST00000469689,;TMBIM1,downstream_gene_variant,,ENST00000465082,;	162	148	97	SUCCESS
COL4A4	1286	.	GRCh37	2	227920768	227920768	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	126	0	ENST00000396625.3:c.2609G>T	p.Gly870Val	p.G870V	ENST00000396625	NM_000092.4	870	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42828.1	2609	MUTECT|MUSE	.	GGAGGCCTTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000379866	.	30/48	.	.	.	.	.	.	.	.	.	30/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Gly870Val,ENST00000329662,;COL4A4,missense_variant,p.Gly870Val,ENST00000396625,;	2817	126	97	SUCCESS
SCLY	51540	.	GRCh37	2	239000017	239000017	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	50	0	ENST00000254663.6:c.945+122A>G		p.*315*	ENST00000254663	NM_016510.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2524.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAAGAAAA	NONE	.	.	.	.	.	ENSP00000254663	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254663	Transcript	.	.	ENSG00000132330	18161	.	.	MODIFIER	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCLY_HUMAN	SCLY	HGNC	B4DDP9_HUMAN	.	UPI0000EE3842	SNV	SCLY,3_prime_UTR_variant,,ENST00000409736,;SCLY,3_prime_UTR_variant,,ENST00000440143,;SCLY,intron_variant,,ENST00000433750,;SCLY,intron_variant,,ENST00000450965,;SCLY,intron_variant,,ENST00000422984,;SCLY,intron_variant,,ENST00000429612,;SCLY,intron_variant,,ENST00000555827,;SCLY,intron_variant,,ENST00000437134,;SCLY,intron_variant,,ENST00000254663,;SCLY,intron_variant,,ENST00000412508,;SCLY,downstream_gene_variant,,ENST00000373332,;SCLY,non_coding_transcript_exon_variant,,ENST00000497951,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,intron_variant,,ENST00000463433,;UBE2F-SCLY,intron_variant,,ENST00000449891,;	.	50	35	SUCCESS
EHD3	30845	.	GRCh37	2	31489355	31489355	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1386920603	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	93	0	ENST00000322054.5:c.1393G>A	p.Ala465Thr	p.A465T	ENST00000322054	NM_014600.2	465	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1774.1	1393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGCTAAT	NONE	.	.	PROSITE_profiles:PS50031,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00027,Superfamily_domains:SSF47473	.	.	ENSP00000327116	.	6/6	.	.	.	.	.	.	.	.	COSM1327103	6/6	PASS	ENST00000322054	Transcript	.	.	ENSG00000013016	3244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.036)	.	tolerated(0.37)	1	EHD3_HUMAN	EHD3	HGNC	.	.	UPI0000140D07	SNV	EHD3,missense_variant,p.Ala465Thr,ENST00000322054,;EHD3,3_prime_UTR_variant,,ENST00000541626,;	1678	93	76	SUCCESS
QPCT	25797	.	GRCh37	2	37571862	37571862	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	8	188	0	ENST00000338415.3:c.-13C>G		p.*5*	ENST00000338415	NM_012413.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1790.1	.	MUTECT|MUSE	.	CCAGACAGACT	NONE	.	.	.	.	.	ENSP00000344829	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000338415	Transcript	.	.	ENSG00000115828	9753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	QPCT_HUMAN	QPCT	HGNC	.	.	UPI000000DC4F	SNV	QPCT,5_prime_UTR_variant,,ENST00000404976,;QPCT,5_prime_UTR_variant,,ENST00000338415,;QPCT,5_prime_UTR_variant,,ENST00000537448,;QPCT,upstream_gene_variant,,ENST00000470075,;	146	188	162	SUCCESS
VRK2	7444	.	GRCh37	2	58386628	58386628	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs138006413	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	16	173	0	ENST00000340157.4:c.1327A>C	p.Lys443Gln	p.K443Q	ENST00000340157	NM_001130481.2	443	Aag/Cag	0	C:0.0011	C:0.0008	.	C:0	.	C	K/Q	protein_coding	YES	CCDS1859.1	1327	RADIA|MUTECT|MUSE	.	TATTCAAGAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100	C:0	C:0	ENSP00000408002	C:0	16/16	.	.	.	.	.	.	.	.	rs138006413	16/16	PASS	ENST00000435505	Transcript	.	C:0.0002	ENSG00000028116	12719	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.048)	C:0	tolerated_low_confidence(0.38)	.	VRK2_HUMAN	VRK2	HGNC	.	.	UPI000013D498	SNV	VRK2,missense_variant,p.Lys443Gln,ENST00000340157,;VRK2,missense_variant,p.Lys420Gln,ENST00000440705,;VRK2,missense_variant,p.Lys443Gln,ENST00000435505,;FANCL,3_prime_UTR_variant,,ENST00000233741,;FANCL,3_prime_UTR_variant,,ENST00000403295,;FANCL,3_prime_UTR_variant,,ENST00000402135,;VRK2,3_prime_UTR_variant,,ENST00000417641,;VRK2,3_prime_UTR_variant,,ENST00000412104,;FANCL,downstream_gene_variant,,ENST00000427708,;FANCL,downstream_gene_variant,,ENST00000446381,;FANCL,downstream_gene_variant,,ENST00000449070,;FANCL,downstream_gene_variant,,ENST00000540646,;FANCL,downstream_gene_variant,,ENST00000403676,;FANCL,downstream_gene_variant,,ENST00000417361,;VRK2,3_prime_UTR_variant,,ENST00000432057,;FANCL,downstream_gene_variant,,ENST00000470506,;	2072	173	157	SUCCESS
VRK2	7444	.	GRCh37	2	58386637	58386637	+	synonymous_variant	Silent	SNP	A	A	C	rs1573486966	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	19	166	0	ENST00000340157.4:c.1336A>C	p.Arg446=	p.R446=	ENST00000340157	NM_001130481.2	446	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS1859.1	1336	RADIA|MUTECT|MUSE	.	AGTCAAGATCT	NONE	.	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100	.	.	ENSP00000408002	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000435505	Transcript	.	.	ENSG00000028116	12719	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VRK2_HUMAN	VRK2	HGNC	.	.	UPI000013D498	SNV	VRK2,synonymous_variant,p.%3D,ENST00000340157,;VRK2,synonymous_variant,p.%3D,ENST00000440705,;VRK2,synonymous_variant,p.%3D,ENST00000435505,;FANCL,3_prime_UTR_variant,,ENST00000233741,;FANCL,3_prime_UTR_variant,,ENST00000403295,;FANCL,3_prime_UTR_variant,,ENST00000402135,;VRK2,3_prime_UTR_variant,,ENST00000417641,;VRK2,3_prime_UTR_variant,,ENST00000412104,;FANCL,downstream_gene_variant,,ENST00000427708,;FANCL,downstream_gene_variant,,ENST00000446381,;FANCL,downstream_gene_variant,,ENST00000449070,;FANCL,downstream_gene_variant,,ENST00000540646,;FANCL,downstream_gene_variant,,ENST00000403676,;FANCL,downstream_gene_variant,,ENST00000417361,;VRK2,3_prime_UTR_variant,,ENST00000432057,;FANCL,downstream_gene_variant,,ENST00000470506,;	2081	166	151	SUCCESS
BCL11A	53335	.	GRCh37	2	60688438	60688438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	63	0	ENST00000335712.6:c.1609G>A	p.Gly537Ser	p.G537S	ENST00000335712	NM_022893.3	537	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1862.1	1609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCCCACGC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43	.	.	ENSP00000338774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335712	Transcript	.	.	ENSG00000119866	13221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.22)	.	BC11A_HUMAN	BCL11A	HGNC	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN	.	UPI000013DC00	SNV	BCL11A,missense_variant,p.Gly503Ser,ENST00000538214,;BCL11A,missense_variant,p.Gly503Ser,ENST00000358510,;BCL11A,missense_variant,p.Gly537Ser,ENST00000356842,;BCL11A,missense_variant,p.Gly206Ser,ENST00000537768,;BCL11A,missense_variant,p.Gly537Ser,ENST00000335712,;BCL11A,intron_variant,,ENST00000359629,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	1837	63	33	SUCCESS
PNO1	56902	.	GRCh37	2	68385547	68385547	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	26	143	0	ENST00000263657.2:c.243A>C	p.Pro81=	p.P81=	ENST00000263657	NM_020143.2	81	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS1885.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCAGCTAA	NONE	.	.	hmmpanther:PTHR12826	.	.	ENSP00000263657	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000263657	Transcript	.	.	ENSG00000115946	32790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNO1_HUMAN	PNO1	HGNC	.	.	UPI00000738E7	SNV	PNO1,synonymous_variant,p.%3D,ENST00000263657,;WDR92,upstream_gene_variant,,ENST00000409164,;WDR92,upstream_gene_variant,,ENST00000406245,;WDR92,upstream_gene_variant,,ENST00000295121,;WDR92,upstream_gene_variant,,ENST00000492039,;PNO1,synonymous_variant,p.%3D,ENST00000430742,;RP11-474G23.1,intron_variant,,ENST00000406334,;WDR92,upstream_gene_variant,,ENST00000468984,;	334	143	101	SUCCESS
CNTN6	27255	.	GRCh37	3	1414146	1414146	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	104	0	ENST00000350110.2:c.1656A>T	p.Glu552Asp	p.E552D	ENST00000350110	NM_014461.2	552	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS2557.1	1656	MUTECT|MUSE	.	TTTGAAAGGAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000407822	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Glu480Asp,ENST00000539053,;CNTN6,missense_variant,p.Glu552Asp,ENST00000446702,;CNTN6,missense_variant,p.Glu552Asp,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	2283	104	73	SUCCESS
TIPARP	25976	.	GRCh37	3	156396043	156396043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	107	0	ENST00000295924.7:c.557C>T	p.Pro186Leu	p.P186L	ENST00000295924	NM_015508.4	186	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3177.1	557	MUTECT|MUSE	.	TGTTCCAGGCA	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF13	.	.	ENSP00000420612	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000461166	Transcript	.	.	ENSG00000163659	23696	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.113)	.	deleterious_low_confidence(0.01)	.	PARPT_HUMAN	TIPARP	HGNC	G5E9W1_HUMAN,C9JXM5_HUMAN	.	UPI000004FA31	SNV	TIPARP,missense_variant,p.Pro186Leu,ENST00000461166,;TIPARP,missense_variant,p.Pro186Leu,ENST00000473702,;TIPARP,missense_variant,p.Pro186Leu,ENST00000481853,;TIPARP,missense_variant,p.Pro186Leu,ENST00000295924,;TIPARP,missense_variant,p.Pro186Leu,ENST00000486483,;TIPARP,missense_variant,p.Pro186Leu,ENST00000542783,;TIPARP,upstream_gene_variant,,ENST00000495891,;TIPARP-AS1,upstream_gene_variant,,ENST00000492937,;TIPARP-AS1,upstream_gene_variant,,ENST00000478005,;	1145	107	114	SUCCESS
WDR49	151790	.	GRCh37	3	167196762	167196762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	54	0	ENST00000308378.3:c.1998G>T	p.Glu666Asp	p.E666D	ENST00000308378	NM_178824.3	666	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS3201.1	1998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCTCATC	NONE	.	.	.	.	.	ENSP00000311343	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	deleterious(0.02)	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,missense_variant,p.Glu643Asp,ENST00000472600,;WDR49,missense_variant,p.Glu631Asp,ENST00000453925,;WDR49,missense_variant,p.Glu491Asp,ENST00000476376,;WDR49,missense_variant,p.Glu666Asp,ENST00000308378,;SERPINI2,5_prime_UTR_variant,,ENST00000476257,;WDR49,3_prime_UTR_variant,,ENST00000479765,;SERPINI2,upstream_gene_variant,,ENST00000264677,;SERPINI2,upstream_gene_variant,,ENST00000466903,;	2304	54	76	SUCCESS
CNTN4	152330	.	GRCh37	3	2777928	2777928	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1487597521	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	96	0	ENST00000397461.1:c.85A>G	p.Ile29Val	p.I29V	ENST00000397461	NM_001206955.1	29	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43041.1	85	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATTCAA	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF568,hmmpanther:PTHR10489	.	.	ENSP00000380602	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000397461	Transcript	.	.	ENSG00000144619	2174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.58)	.	CNTN4_HUMAN	CNTN4	HGNC	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN	.	UPI000007446C	SNV	CNTN4,missense_variant,p.Ile29Val,ENST00000397461,;CNTN4,missense_variant,p.Ile29Val,ENST00000418658,;CNTN4,missense_variant,p.Ile29Val,ENST00000422330,;CNTN4,missense_variant,p.Ile29Val,ENST00000455083,;CNTN4,missense_variant,p.Ile29Val,ENST00000427331,;CNTN4,missense_variant,p.Ile47Val,ENST00000434053,;CNTN4,missense_variant,p.Ile29Val,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,;CNTN4,non_coding_transcript_exon_variant,,ENST00000480113,;	469	96	74	SUCCESS
DYNC1LI1	51143	.	GRCh37	3	32612261	32612261	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	14	153	0	ENST00000273130.4:c.2T>A	p.Met1?	p.M1?	ENST00000273130	NM_016141.3	1	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS2654.1	2	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCATCTTG	NONE	.	.	.	.	.	ENSP00000273130	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000273130	Transcript	.	.	ENSG00000144635	18745	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	deleterious_low_confidence(0)	.	DC1L1_HUMAN	DYNC1LI1	HGNC	B3KM42_HUMAN	.	UPI000013D99D	SNV	DYNC1LI1,start_lost,p.Met1?,ENST00000273130,;DYNC1LI1,start_lost,p.Met1?,ENST00000424991,;DYNC1LI1,start_lost,p.Met1?,ENST00000432458,;DYNC1LI1,upstream_gene_variant,,ENST00000413350,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000475193,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000474077,;DYNC1LI1,upstream_gene_variant,,ENST00000481915,;	106	153	124	SUCCESS
DNAH12	201625	.	GRCh37	3	57445491	57445491	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	52	0	ENST00000351747.2:c.2690G>T	p.Arg897Leu	p.R897L	ENST00000351747	NM_178504.4	897	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	.	.	2690	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTCGAATC	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000295937	.	20/59	.	.	.	.	.	.	.	.	COSM1424878	20/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.569)	.	tolerated(1)	1	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,missense_variant,p.Arg897Leu,ENST00000351747,;DNAH12,missense_variant,p.Arg920Leu,ENST00000495027,;	2871	52	54	SUCCESS
FLNB	2317	.	GRCh37	3	58139320	58139320	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	98	0	ENST00000295956.4:c.6586G>A	p.Val2196Met	p.V2196M	ENST00000295956	NM_001457.3	2196	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54599.1	6679	MUTECT|MUSE	.	ACAAGGTGCGG	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	40/47	.	.	.	.	.	.	.	.	.	40/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.918)	.	deleterious(0.02)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Val2185Met,ENST00000429972,;FLNB,missense_variant,p.Val2196Met,ENST00000295956,;FLNB,missense_variant,p.Val2172Met,ENST00000358537,;FLNB,missense_variant,p.Val2227Met,ENST00000490882,;FLNB,missense_variant,p.Val2155Met,ENST00000348383,;FLNB,missense_variant,p.Val2003Met,ENST00000493452,;FLNB,missense_variant,p.Val120Met,ENST00000466455,;FLNB,missense_variant,p.Val2016Met,ENST00000419752,;FLNB,3_prime_UTR_variant,,ENST00000357272,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,upstream_gene_variant,,ENST00000468939,;FLNB,upstream_gene_variant,,ENST00000475487,;FLNB,downstream_gene_variant,,ENST00000470231,;FLNB,downstream_gene_variant,,ENST00000477629,;	6844	98	68	SUCCESS
EPHA3	2042	.	GRCh37	3	89156944	89156944	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	65	0	ENST00000336596.2:c.46C>G	p.Leu16Val	p.L16V	ENST00000336596	NM_005233.5	16	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2922.1	46	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCTCGAC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000337451	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.14)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Leu16Val,ENST00000494014,;EPHA3,missense_variant,p.Leu16Val,ENST00000452448,;EPHA3,missense_variant,p.Leu16Val,ENST00000336596,;	271	65	50	SUCCESS
EPHA3	2042	.	GRCh37	3	89478259	89478259	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	112	0	ENST00000336596.2:c.2078A>G	p.Lys693Arg	p.K693R	ENST00000336596	NM_005233.5	693	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2922.1	2078	MUTECT|MUSE	.	AGGTAAGCCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000337451	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	tolerated(0.59)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Lys693Arg,ENST00000494014,;EPHA3,missense_variant,p.Lys693Arg,ENST00000336596,;	2303	112	90	SUCCESS
CPOX	1371	.	GRCh37	3	98312013	98312013	+	synonymous_variant	Silent	SNP	C	C	T	rs760397605	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	596	42	855	0	ENST00000264193.2:c.336G>A	p.Ser112=	p.S112=	ENST00000264193	NM_000097.5	112	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2932.1	336	MUTECT|MUSE	.	CCCAGCGAAGT	NONE	.	.	hmmpanther:PTHR10755,hmmpanther:PTHR10755:SF0	.	.	ENSP00000264193	.	1/7	.	.	.	.	.	.	.	.	rs760397605	1/7	PASS	ENST00000264193	Transcript	.	.	ENSG00000080819	2321	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HEM6_HUMAN	CPOX	HGNC	.	.	UPI0000073C93	SNV	CPOX,synonymous_variant,p.%3D,ENST00000264193,;CPOX,synonymous_variant,p.%3D,ENST00000513674,;CPOX,non_coding_transcript_exon_variant,,ENST00000515041,;	555	856	638	SUCCESS
FAT4	79633	.	GRCh37	4	126240520	126240520	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	57	0	ENST00000394329.3:c.2954A>C	p.Tyr985Ser	p.Y985S	ENST00000394329	NM_024582.4	985	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS3732.3	2954	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTATGTCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Tyr985Ser,ENST00000394329,;	2967	57	60	SUCCESS
MAML3	55534	.	GRCh37	4	140811502	140811502	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	82	0	ENST00000509479.2:c.1088A>G	p.His363Arg	p.H363R	ENST00000509479	NM_018717.4	363	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS54805.1	1088	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTGAGAG	NONE	.	.	hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8	.	.	ENSP00000421180	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000509479	Transcript	.	.	ENSG00000196782	16272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	.	.	MAML3_HUMAN	MAML3	HGNC	Q9NPV6_HUMAN,E7EVW8_HUMAN	.	UPI00001C1E1E	SNV	MAML3,missense_variant,p.His363Arg,ENST00000509479,;MAML3,missense_variant,p.His207Arg,ENST00000327122,;MAML3,intron_variant,,ENST00000502696,;MAML3,upstream_gene_variant,,ENST00000398940,;	1945	82	71	SUCCESS
F11	2160	.	GRCh37	4	187201692	187201692	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748671250	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	15	198	0	ENST00000403665.2:c.1093G>A	p.Gly365Ser	p.G365S	ENST00000403665	NM_000128.3	365	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3847.1	1093	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGCATC	NONE	byFrequency	.	SMART_domains:SM00223,Gene3D:3.50.4.10,PROSITE_patterns:PS00495,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF81,PROSITE_profiles:PS50948	.	.	ENSP00000384957	.	10/15	.	.	.	.	.	.	.	.	rs748671250	10/15	PASS	ENST00000403665	Transcript	1	.	ENSG00000088926	3529	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.146)	.	tolerated(0.58)	.	FA11_HUMAN	F11	HGNC	Q9UEG0_HUMAN,D6RB32_HUMAN	.	UPI000000D8B7	SNV	F11,missense_variant,p.Gly181Ser,ENST00000452239,;F11,missense_variant,p.Gly313Ser,ENST00000264692,;F11,missense_variant,p.Gly365Ser,ENST00000403665,;	1445	198	158	SUCCESS
UGT2B11	10720	.	GRCh37	4	70079851	70079851	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1577967128	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	8	186	0	ENST00000446444.1:c.590T>C	p.Val197Ala	p.V197A	ENST00000446444	NM_001073.1	197	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3527.1	590	MUTECT|MUSE	.	ACATAACAATA	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Pfam_domain:PF00201,Gene3D:3.40.50.2000,Superfamily_domains:SSF53756	.	.	ENSP00000387683	.	1/6	.	.	.	.	.	.	.	.	COSM286281	1/6	PASS	ENST00000446444	Transcript	.	.	ENSG00000213759	12545	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.02)	.	tolerated(0.55)	1	UDB11_HUMAN	UGT2B11	HGNC	Q4W5B9_HUMAN	.	UPI0000137A97	SNV	UGT2B11,missense_variant,p.Val197Ala,ENST00000446444,;RP11-704M14.1,intron_variant,,ENST00000504301,;RP11-704M14.1,intron_variant,,ENST00000505646,;RP11-704M14.2,downstream_gene_variant,,ENST00000514003,;	599	186	154	SUCCESS
LIN54	132660	.	GRCh37	4	83861045	83861045	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	157	0	ENST00000340417.3:c.1239A>G	p.Lys413=	p.K413=	ENST00000340417	NM_194282.2	413	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS3599.1	1239	MUTECT|MUSE|VARSCANS	.	ACTTGTTTGAC	NONE	.	.	hmmpanther:PTHR12446:SF2,hmmpanther:PTHR12446	.	.	ENSP00000341947	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000340417	Transcript	.	.	ENSG00000189308	25397	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIN54_HUMAN	LIN54	HGNC	.	.	UPI00001D75DE	SNV	LIN54,synonymous_variant,p.%3D,ENST00000395283,;LIN54,synonymous_variant,p.%3D,ENST00000446851,;LIN54,synonymous_variant,p.%3D,ENST00000340417,;LIN54,synonymous_variant,p.%3D,ENST00000505397,;LIN54,synonymous_variant,p.%3D,ENST00000442461,;LIN54,synonymous_variant,p.%3D,ENST00000510557,;LIN54,synonymous_variant,p.%3D,ENST00000506560,;LIN54,3_prime_UTR_variant,,ENST00000395282,;Y_RNA,downstream_gene_variant,,ENST00000362660,;LIN54,3_prime_UTR_variant,,ENST00000508171,;LIN54,3_prime_UTR_variant,,ENST00000510877,;	1617	157	112	SUCCESS
FBN2	2201	.	GRCh37	5	127610297	127610297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	5	155	0	ENST00000262464.4:c.7673G>A	p.Cys2558Tyr	p.C2558Y	ENST00000262464	NM_001999.3	2558	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS34222.1	7673	MUTECT|MUSE	.	GTGGACATTTA	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,PROSITE_patterns:PS00010,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	66/71	.	.	.	.	.	.	.	.	.	66/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Cys2558Tyr,ENST00000262464,;FBN2,missense_variant,p.Cys2558Tyr,ENST00000508053,;	8648	155	116	SUCCESS
SLC22A5	6584	.	GRCh37	5	131721047	131721047	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs185551386	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	7	168	0	ENST00000245407.3:c.680G>A	p.Arg227His	p.R227H	ENST00000245407	NM_003060.3	227	cGt/cAt	0	.	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS4154.1	680	MUTECT|MUSE	.	AGTTCGTATAA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5,PROSITE_profiles:PS50850	A:0	.	ENSP00000245407	A:0	4/10	.	.	.	.	.	.	.	.	CM104586,rs185551386	4/10	PASS	ENST00000245407	Transcript	1	A:0.0002	ENSG00000197375	10969	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	A:0	deleterious(0)	.	S22A5_HUMAN	SLC22A5	HGNC	.	.	UPI0000130BB6	SNV	SLC22A5,missense_variant,p.Arg227His,ENST00000245407,;SLC22A5,missense_variant,p.Arg251His,ENST00000435065,;SLC22A5,missense_variant,p.Arg150His,ENST00000415928,;SLC22A5,upstream_gene_variant,,ENST00000479605,;SLC22A5,missense_variant,p.Val141Ile,ENST00000437841,;SLC22A5,missense_variant,p.Arg10His,ENST00000448810,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,upstream_gene_variant,,ENST00000475308,;SLC22A5,upstream_gene_variant,,ENST00000447841,;	901	168	138	SUCCESS
GPX3	2878	.	GRCh37	5	150400207	150400207	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	94	0	ENST00000388825.4:c.-9C>G		p.*3*	ENST00000388825	NM_002084.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43389.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCACCCC	NONE	.	.	.	.	.	ENSP00000373477	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000388825	Transcript	.	.	ENSG00000211445	4555	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPX3_HUMAN	GPX3	HGNC	Q6NXQ3_HUMAN	.	UPI0000161B50	SNV	GPX3,5_prime_UTR_variant,,ENST00000517973,;GPX3,5_prime_UTR_variant,,ENST00000388825,;GPX3,5_prime_UTR_variant,,ENST00000521650,;GPX3,upstream_gene_variant,,ENST00000521632,;GPX3,non_coding_transcript_exon_variant,,ENST00000521722,;GPX3,5_prime_UTR_variant,,ENST00000519214,;	84	94	80	SUCCESS
FAT2	2196	.	GRCh37	5	150920148	150920148	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	70	0	ENST00000261800.5:c.9019A>G	p.Asn3007Asp	p.N3007D	ENST00000261800	NM_001447.2	3007	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS4317.1	9019	MUTECT|MUSE	.	GCTGTTATCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Asn3007Asp,ENST00000261800,;	9032	70	56	SUCCESS
GRIA1	2890	.	GRCh37	5	153144134	153144134	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	10	102	0	ENST00000285900.5:c.1964A>G	p.Lys655Arg	p.K655R	ENST00000285900	NM_000827.3	655	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS58987.1	1994	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAAGCAGA	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.11)	.	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Lys575Arg,ENST00000518142,;GRIA1,missense_variant,p.Lys665Arg,ENST00000518783,;GRIA1,missense_variant,p.Lys586Arg,ENST00000521843,;GRIA1,missense_variant,p.Lys655Arg,ENST00000285900,;GRIA1,missense_variant,p.Lys665Arg,ENST00000448073,;GRIA1,missense_variant,p.Lys655Arg,ENST00000340592,;	2021	102	110	SUCCESS
GABRG2	2566	.	GRCh37	5	161524819	161524819	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	31	99	0	ENST00000361925.4:c.503G>T	p.Arg168Met	p.R168M	ENST00000361925		168	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS47333.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAGGATGC	BUFFER|p.T165A|c.493A>G|4	.	.	Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	deleterious(0)	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,missense_variant,p.Arg73Met,ENST00000393933,;GABRG2,missense_variant,p.Arg168Met,ENST00000361925,;GABRG2,missense_variant,p.Arg168Met,ENST00000356592,;GABRG2,missense_variant,p.Arg73Met,ENST00000522053,;GABRG2,missense_variant,p.Arg168Met,ENST00000414552,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	728	100	116	SUCCESS
SH3PXD2B	285590	.	GRCh37	5	171766310	171766310	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	66	0	ENST00000311601.5:c.1799A>C	p.His600Pro	p.H600P	ENST00000311601	NM_001017995.2	600	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS34291.1	1799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTGGCCA	NONE	.	.	hmmpanther:PTHR15706:SF8,hmmpanther:PTHR15706	.	.	ENSP00000309714	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000311601	Transcript	1	.	ENSG00000174705	29242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	SPD2B_HUMAN	SH3PXD2B	HGNC	.	.	UPI000020C12E	SNV	SH3PXD2B,missense_variant,p.His600Pro,ENST00000311601,;SH3PXD2B,intron_variant,,ENST00000519643,;SH3PXD2B,intron_variant,,ENST00000518522,;	1970	66	73	SUCCESS
SLC1A3	6507	.	GRCh37	5	36629633	36629633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	124	0	ENST00000265113.4:c.263T>C	p.Leu88Pro	p.L88P	ENST00000265113	NM_004172.4	88	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS3919.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTGATGA	NONE	.	.	Superfamily_domains:0053221,Pfam_domain:PF00375,Gene3D:2nwlC00,PROSITE_patterns:PS00713,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24	.	.	ENSP00000265113	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000265113	Transcript	1	.	ENSG00000079215	10941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	EAA1_HUMAN	SLC1A3	HGNC	E7EUV6_HUMAN,E7EUS7_HUMAN	.	UPI0000129B0F	SNV	SLC1A3,missense_variant,p.Leu88Pro,ENST00000265113,;SLC1A3,missense_variant,p.Leu88Pro,ENST00000505202,;SLC1A3,missense_variant,p.Leu88Pro,ENST00000513646,;SLC1A3,missense_variant,p.Leu88Pro,ENST00000513903,;SLC1A3,missense_variant,p.Leu88Pro,ENST00000381918,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000509272,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000502864,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000514563,;	739	124	135	SUCCESS
NIPBL	25836	.	GRCh37	5	36976040	36976040	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	64	217	0	ENST00000282516.8:c.1031T>C	p.Met344Thr	p.M344T	ENST00000282516	NM_133433.3	344	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS3920.1	1031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAATGTATG	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	9/47	.	.	.	.	.	.	.	.	.	9/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious_low_confidence(0)	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,missense_variant,p.Met344Thr,ENST00000448238,;NIPBL,missense_variant,p.Met344Thr,ENST00000282516,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000505998,;	1530	217	227	SUCCESS
EGFLAM	133584	.	GRCh37	5	38435262	38435262	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	77	0	ENST00000354891.3:c.2190C>T	p.Cys730=	p.C730=	ENST00000354891	NM_001205301.1	730	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS56363.1	2190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGCAACAC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000346964	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000397202,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;CTD-2108O9.4,upstream_gene_variant,,ENST00000513087,;	2536	77	105	SUCCESS
C5orf55	0	.	GRCh37	5	443218	443218	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	38	0	ENST00000408966.2:c.-281G>T		p.*94*	ENST00000408966	NM_138464.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43298.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTACCCGCC	NONE	.	.	.	.	.	ENSP00000386139	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408966	Transcript	.	.	ENSG00000221990	25175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE055_HUMAN	C5orf55	HGNC	.	.	UPI00000718E4	SNV	C5orf55,5_prime_UTR_variant,,ENST00000408966,;EXOC3,upstream_gene_variant,,ENST00000508022,;EXOC3,upstream_gene_variant,,ENST00000315013,;EXOC3,upstream_gene_variant,,ENST00000512944,;AHRR,downstream_gene_variant,,ENST00000316418,;EXOC3,upstream_gene_variant,,ENST00000510441,;EXOC3,upstream_gene_variant,,ENST00000515601,;	41	38	45	SUCCESS
POLK	51426	.	GRCh37	5	74880726	74880726	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780624973	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	39	188	0	ENST00000241436.4:c.1201G>T	p.Gly401Cys	p.G401C	ENST00000241436	NM_016218.2	401	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS4030.1	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGGTCTA	NONE	.	.	Superfamily_domains:SSF56672,Gene3D:1.10.150.20,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF12,HAMAP:MF_01113	.	.	ENSP00000241436	.	9/15	.	.	.	.	.	.	.	.	rs780624973	9/15	PASS	ENST00000241436	Transcript	.	.	ENSG00000122008	9183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	POLK_HUMAN	POLK	HGNC	D6RDX9_HUMAN	.	UPI0000073EF6	SNV	POLK,missense_variant,p.Gly401Cys,ENST00000515295,;POLK,missense_variant,p.Gly311Cys,ENST00000380481,;POLK,missense_variant,p.Gly401Cys,ENST00000504026,;POLK,missense_variant,p.Gly401Cys,ENST00000241436,;POLK,intron_variant,,ENST00000352007,;POLK,intron_variant,,ENST00000508526,;POLK,non_coding_transcript_exon_variant,,ENST00000506928,;POLK,missense_variant,p.Gly401Cys,ENST00000514141,;POLK,missense_variant,p.Gly401Cys,ENST00000509126,;POLK,missense_variant,p.Gly311Cys,ENST00000510815,;POLK,missense_variant,p.Gly335Cys,ENST00000503479,;POLK,3_prime_UTR_variant,,ENST00000511527,;POLK,3_prime_UTR_variant,,ENST00000505975,;POLK,downstream_gene_variant,,ENST00000508867,;	1373	188	170	SUCCESS
ZCCHC9	84240	.	GRCh37	5	80608473	80608473	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	7	229	0	ENST00000254037.2:c.808A>C	p.Asn270His	p.N270H	ENST00000254037		270	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS4054.1	808	MUTECT|MUSE	.	TTGTTAATTTT	NONE	.	.	.	.	.	ENSP00000254037	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000254037	Transcript	.	.	ENSG00000131732	25424	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.902)	.	tolerated(0.29)	.	ZCHC9_HUMAN	ZCCHC9	HGNC	.	.	UPI0000072279	SNV	ZCCHC9,missense_variant,p.Asn270His,ENST00000438268,;ZCCHC9,missense_variant,p.Asn270His,ENST00000254037,;ZCCHC9,missense_variant,p.Asn270His,ENST00000407610,;ZCCHC9,missense_variant,p.Asn270His,ENST00000380199,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000506458,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000507402,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000510227,;ZCCHC9,downstream_gene_variant,,ENST00000504502,;ZCCHC9,downstream_gene_variant,,ENST00000505860,;	3963	229	208	SUCCESS
MCTP1	79772	.	GRCh37	5	94204080	94204080	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	101	0	ENST00000515393.1:c.2394C>A	p.Cys798Ter	p.C798*	ENST00000515393	NM_024717.4	798	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS34203.1	2394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGCAACT	BUFFER|p.N796N|c.2388T>C|3	.	.	hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	17/23	.	.	.	.	.	.	.	.	COSM288676	17/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,stop_gained,p.Cys577Ter,ENST00000505208,;MCTP1,stop_gained,p.Cys531Ter,ENST00000429576,;MCTP1,stop_gained,p.Cys798Ter,ENST00000515393,;MCTP1,stop_gained,p.Cys577Ter,ENST00000312216,;MCTP1,stop_gained,p.Cys518Ter,ENST00000508509,;MCTP1,stop_gained,p.Cys459Ter,ENST00000512425,;MCTP1,stop_gained,p.Cys314Ter,ENST00000505078,;MCTP1,stop_gained,p.Cys399Ter,ENST00000506568,;	2394	101	100	SUCCESS
MCTP1	79772	.	GRCh37	5	94204081	94204081	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	101	0	ENST00000515393.1:c.2393G>A	p.Cys798Tyr	p.C798Y	ENST00000515393	NM_024717.4	798	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS34203.1	2393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCAACTA	BUFFER|p.N796N|c.2388T>C|3	.	.	hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122	.	.	ENSP00000424126	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,missense_variant,p.Cys577Tyr,ENST00000505208,;MCTP1,missense_variant,p.Cys531Tyr,ENST00000429576,;MCTP1,missense_variant,p.Cys798Tyr,ENST00000515393,;MCTP1,missense_variant,p.Cys577Tyr,ENST00000312216,;MCTP1,missense_variant,p.Cys518Tyr,ENST00000508509,;MCTP1,missense_variant,p.Cys459Tyr,ENST00000512425,;MCTP1,missense_variant,p.Cys314Tyr,ENST00000505078,;MCTP1,missense_variant,p.Cys399Tyr,ENST00000506568,;	2393	101	99	SUCCESS
PRDM13	59336	.	GRCh37	6	100062629	100062629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	5	127	0	ENST00000369215.4:c.2118C>A	p.Asp706Glu	p.D706E	ENST00000369215	NM_021620.3	706	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS43487.1	2118	MUTECT|MUSE	.	CGCGACTTGTA	NONE	.	.	hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228	.	.	ENSP00000358217	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000369215	Transcript	.	.	ENSG00000112238	13998	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.171)	.	tolerated_low_confidence(0.07)	.	PRD13_HUMAN	PRDM13	HGNC	Q7Z5E7_HUMAN	.	UPI000047099D	SNV	PRDM13,missense_variant,p.Asp706Glu,ENST00000369215,;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	2423	127	126	SUCCESS
KIAA1919	0	.	GRCh37	6	111587870	111587870	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	104	0	ENST00000368847.4:c.1105A>G	p.Ile369Val	p.I369V	ENST00000368847	NM_153369.2	369	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5090.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTATTCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23121:SF12,hmmpanther:PTHR23121,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000357840	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368847	Transcript	.	.	ENSG00000173214	21053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.08)	.	NAGT1_HUMAN	KIAA1919	HGNC	.	.	UPI000013EF89	SNV	KIAA1919,missense_variant,p.Ile369Val,ENST00000368847,;	1458	104	92	SUCCESS
SAMD3	154075	.	GRCh37	6	130475974	130475974	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	43	0	ENST00000368134.2:c.1019A>G	p.Tyr340Cys	p.Y340C	ENST00000368134	NM_001258275.1	340	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34539.1	1019	MUTECT|MUSE	.	CCTGATAAGGG	NONE	.	.	hmmpanther:PTHR12844:SF18,hmmpanther:PTHR12844	.	.	ENSP00000357116	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000368134	Transcript	.	.	ENSG00000164483	21574	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.759)	.	tolerated(0.09)	.	SAMD3_HUMAN	SAMD3	HGNC	E9PS85_HUMAN	.	UPI000006DCE7	SNV	SAMD3,missense_variant,p.Tyr340Cys,ENST00000437477,;SAMD3,missense_variant,p.Tyr340Cys,ENST00000368134,;SAMD3,missense_variant,p.Tyr9Cys,ENST00000463253,;SAMD3,missense_variant,p.Tyr340Cys,ENST00000439090,;SAMD3,missense_variant,p.Tyr364Cys,ENST00000457563,;SAMD3,downstream_gene_variant,,ENST00000532763,;	1628	43	49	SUCCESS
TCF21	6943	.	GRCh37	6	134210652	134210652	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	30	171	0	ENST00000237316.3:c.117G>A	p.Glu39=	p.E39=	ENST00000237316	NM_198392.2	39	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS5167.1	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGAGGAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF51	.	.	ENSP00000356857	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367882	Transcript	.	.	ENSG00000118526	11632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF21_HUMAN	TCF21	HGNC	.	.	UPI0000001290	SNV	TCF21,synonymous_variant,p.%3D,ENST00000237316,;TCF21,synonymous_variant,p.%3D,ENST00000367882,;RP3-323P13.2,intron_variant,,ENST00000607573,;RP3-323P13.2,upstream_gene_variant,,ENST00000607641,;RP3-323P13.2,upstream_gene_variant,,ENST00000607033,;RP3-323P13.2,upstream_gene_variant,,ENST00000606544,;	377	171	148	SUCCESS
KIAA1244	0	.	GRCh37	6	138584163	138584163	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	60	0	ENST00000251691.4:c.1543A>T	p.Thr515Ser	p.T515S	ENST00000251691	NM_020340.4	515	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS5189.2	1543	MUTECT|MUSE	.	AGACCACTCTC	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	tolerated(0.13)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Thr515Ser,ENST00000251691,;	1709	60	51	SUCCESS
FNDC1	84624	.	GRCh37	6	159646690	159646690	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	92	0	ENST00000297267.9:c.1008T>C	p.Arg336=	p.R336=	ENST00000297267	NM_032532.2	336	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS47512.1	1008	MUTECT|MUSE	.	GTCCGTATTTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000297267	.	8/23	.	.	.	.	.	.	.	.	COSM1075496	8/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,synonymous_variant,p.%3D,ENST00000340366,;FNDC1,synonymous_variant,p.%3D,ENST00000297267,;FNDC1,synonymous_variant,p.%3D,ENST00000329629,;FNDC1,non_coding_transcript_exon_variant,,ENST00000480856,;	1208	92	112	SUCCESS
ERMARD	55780	.	GRCh37	6	170156445	170156445	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	11	100	0	ENST00000366773.3:c.327A>G	p.Glu109=	p.E109=	ENST00000366773	NM_018341.2	109	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS34576.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAAATATT	NONE	.	.	hmmpanther:PTHR31701,hmmpanther:PTHR31701:SF2	.	.	ENSP00000355735	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000366773	Transcript	.	.	ENSG00000130023	21056	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EMARD_HUMAN	ERMARD	HGNC	K7EMW5_HUMAN,K7EME8_HUMAN,F8WAF1_HUMAN	.	UPI000020DF6E	SNV	ERMARD,synonymous_variant,p.%3D,ENST00000366773,;ERMARD,synonymous_variant,p.%3D,ENST00000418781,;ERMARD,synonymous_variant,p.%3D,ENST00000366772,;ERMARD,5_prime_UTR_variant,,ENST00000392095,;ERMARD,5_prime_UTR_variant,,ENST00000592745,;ERMARD,5_prime_UTR_variant,,ENST00000588437,;ERMARD,5_prime_UTR_variant,,ENST00000592367,;ERMARD,5_prime_UTR_variant,,ENST00000590711,;ERMARD,5_prime_UTR_variant,,ENST00000588451,;ERMARD,intron_variant,,ENST00000586341,;TCTE3,upstream_gene_variant,,ENST00000366774,;ERMARD,3_prime_UTR_variant,,ENST00000592315,;ERMARD,3_prime_UTR_variant,,ENST00000590017,;ERMARD,downstream_gene_variant,,ENST00000592580,;	360	100	104	SUCCESS
SLC44A4	80736	.	GRCh37	6	31839271	31839271	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	105	0	ENST00000229729.6:c.597C>T	p.Thr199=	p.T199=	ENST00000229729	NM_025257.2	199	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4724.2	597	MUTECT|MUSE	.	ATGGTGGTGTC	NONE	.	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37	.	.	ENSP00000229729	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,synonymous_variant,p.%3D,ENST00000414427,;SLC44A4,synonymous_variant,p.%3D,ENST00000544672,;SLC44A4,synonymous_variant,p.%3D,ENST00000229729,;SLC44A4,synonymous_variant,p.%3D,ENST00000375562,;SLC44A4,downstream_gene_variant,,ENST00000462671,;SLC44A4,downstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000479777,;SLC44A4,upstream_gene_variant,,ENST00000475563,;	618	105	94	SUCCESS
KCNQ5	56479	.	GRCh37	6	73331984	73331986	+	inframe_deletion	In_Frame_Del	DEL	GCG	GCG	-	rs568022266	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	GCG	GCG	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	23	0	ENST00000370398.1:c.80_82del	p.Ala27del	p.A27del	ENST00000370398	NM_019842.3	23	GCG/-	0	-:0.0209	-:0.0023	.	-:0	.	-	A/-	protein_coding	YES	CCDS55034.1	67-69	INDELOCATOR|VARSCANI	.	GGCGCAGCGGCGGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	-:0	-:0.0098	ENSP00000345055	-:0	1/15	.	.	.	.	.	.	.	.	rs568022266	1/15	PASS	ENST00000342056	Transcript	.	-:0.0012	ENSG00000185760	6299	13	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.0031	.	.	.	KCNQ5	HGNC	A6PVT6_HUMAN	.	UPI000155D644	deletion	KCNQ5,inframe_deletion,p.Ala27del,ENST00000370392,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000402622,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000370398,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000414165,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000403813,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000342056,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000355194,;KCNQ5,inframe_deletion,p.Ala27del,ENST00000355635,;	465-467	23	16	SUCCESS
EPHA7	2045	.	GRCh37	6	93956641	93956641	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	6	156	0	ENST00000369303.4:c.2595T>A	p.Leu865=	p.L865=	ENST00000369303	NM_004440.3	865	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5031.1	2595	MUTECT|MUSE	.	TGGTGAAGGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000358309	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,synonymous_variant,p.%3D,ENST00000369303,;	2780	156	148	SUCCESS
DGKI	9162	.	GRCh37	7	137092695	137092695	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759846170	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	8	144	0	ENST00000288490.5:c.2870C>A	p.Pro957Gln	p.P957Q	ENST00000288490	NM_004717.2	957	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS5845.1	2870	MUTECT|MUSE	.	GGTCTGGTCCC	NONE	byFrequency	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000288490	.	31/34	.	.	.	.	.	.	.	.	rs759846170,COSM4155423,COSM4155424,COSM4155425	31/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	possibly_damaging(0.68)	.	tolerated(0.55)	0,1,1,1	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,missense_variant,p.Pro957Gln,ENST00000288490,;DGKI,missense_variant,p.Pro970Gln,ENST00000424189,;DGKI,missense_variant,p.Pro626Gln,ENST00000453654,;DGKI,missense_variant,p.Pro939Gln,ENST00000446122,;DGKI,non_coding_transcript_exon_variant,,ENST00000494390,;DGKI,non_coding_transcript_exon_variant,,ENST00000497321,;DGKI,intron_variant,,ENST00000477835,;	2871	144	121	SUCCESS
AGAP3	116988	.	GRCh37	7	150814237	150814237	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1388061900	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	19	106	0	ENST00000397238.2:c.446C>T	p.Thr149Met	p.T149M	ENST00000397238	NM_031946.5	149	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS43681.1	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACGGGGA	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR23180:SF198,hmmpanther:PTHR23180,Pfam_domain:PF08477,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	.	.	ENSP00000380413	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000397238	Transcript	.	.	ENSG00000133612	16923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	AGAP3_HUMAN	AGAP3	HGNC	Q96T14_HUMAN,D3DX07_HUMAN	.	UPI0000DAC777	SNV	AGAP3,missense_variant,p.Thr149Met,ENST00000473312,;AGAP3,missense_variant,p.Thr149Met,ENST00000479901,;AGAP3,missense_variant,p.Thr329Met,ENST00000335367,;AGAP3,missense_variant,p.Thr85Met,ENST00000469901,;AGAP3,missense_variant,p.Thr149Met,ENST00000397238,;AGAP3,5_prime_UTR_variant,,ENST00000463381,;AGAP3,upstream_gene_variant,,ENST00000468796,;AGAP3,non_coding_transcript_exon_variant,,ENST00000490097,;AGAP3,non_coding_transcript_exon_variant,,ENST00000492234,;AGAP3,non_coding_transcript_exon_variant,,ENST00000476375,;AGAP3,upstream_gene_variant,,ENST00000480106,;AGAP3,upstream_gene_variant,,ENST00000475145,;AGAP3,upstream_gene_variant,,ENST00000486946,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473140,;AGAP3,upstream_gene_variant,,ENST00000490839,;AGAP3,upstream_gene_variant,,ENST00000467724,;AGAP3,upstream_gene_variant,,ENST00000498559,;AGAP3,upstream_gene_variant,,ENST00000463179,;	446	106	109	SUCCESS
TMEM196	256130	.	GRCh37	7	19763945	19763945	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	32	140	0	ENST00000405764.3:c.459+1192C>A		p.*153*	ENST00000405764	NM_152774.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34607.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGCAAG	NONE	.	.	.	.	.	ENSP00000384234	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405764	Transcript	.	.	ENSG00000173452	22431	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM196_HUMAN	TMEM196	HGNC	.	.	UPI00005A9078	SNV	TMEM196,missense_variant,p.Pro96His,ENST00000422233,;TMEM196,missense_variant,p.Pro164His,ENST00000405844,;TMEM196,3_prime_UTR_variant,,ENST00000433641,;TMEM196,intron_variant,,ENST00000493519,;TMEM196,intron_variant,,ENST00000405764,;AC004543.1,downstream_gene_variant,,ENST00000408649,;	.	140	156	SUCCESS
MYL7	58498	.	GRCh37	7	44178595	44178595	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	54	0	ENST00000223364.3:c.453C>T	p.Pro151=	p.P151=	ENST00000223364	NM_021223.2	151	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5478.1	453	MUTECT|MUSE	.	TCCATGGGTGT	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF39,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000223364	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000223364	Transcript	.	.	ENSG00000106631	21719	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MLRA_HUMAN	MYL7	HGNC	C9JEG4_HUMAN	.	UPI000006FF43	SNV	MYL7,synonymous_variant,p.%3D,ENST00000457314,;MYL7,synonymous_variant,p.%3D,ENST00000446581,;MYL7,synonymous_variant,p.%3D,ENST00000458240,;MYL7,synonymous_variant,p.%3D,ENST00000223364,;MYL7,downstream_gene_variant,,ENST00000447951,;MYL7,downstream_gene_variant,,ENST00000431007,;MYL7,non_coding_transcript_exon_variant,,ENST00000434895,;MYL7,downstream_gene_variant,,ENST00000457910,;MYL7,downstream_gene_variant,,ENST00000476118,;MYL7,downstream_gene_variant,,ENST00000431289,;	480	54	56	SUCCESS
EIF3H	8667	.	GRCh37	8	117671203	117671203	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	21	145	0	ENST00000521861.1:c.306A>C	p.Glu102Asp	p.E102D	ENST00000521861	NM_003756.2	102	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS6319.1	306	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTTCCAT	NONE	.	.	HAMAP:MF_03007,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF3,Pfam_domain:PF01398,SMART_domains:SM00232	.	.	ENSP00000429931	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000521861	Transcript	.	.	ENSG00000147677	3273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.831)	.	tolerated(0.28)	.	EIF3H_HUMAN	EIF3H	HGNC	Q6IB98_HUMAN	.	UPI00000477E8	SNV	EIF3H,missense_variant,p.Glu70Asp,ENST00000518949,;EIF3H,missense_variant,p.Glu118Asp,ENST00000518995,;EIF3H,missense_variant,p.Glu102Asp,ENST00000521861,;EIF3H,missense_variant,p.Glu116Asp,ENST00000276682,;EIF3H,missense_variant,p.Glu126Asp,ENST00000522453,;EIF3H,3_prime_UTR_variant,,ENST00000519046,;EIF3H,3_prime_UTR_variant,,ENST00000522800,;EIF3H,non_coding_transcript_exon_variant,,ENST00000517974,;EIF3H,non_coding_transcript_exon_variant,,ENST00000518034,;EIF3H,upstream_gene_variant,,ENST00000520289,;	330	145	147	SUCCESS
MED30	90390	.	GRCh37	8	118540924	118540924	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	8	139	0	ENST00000297347.3:c.212A>T	p.Tyr71Phe	p.Y71F	ENST00000297347	NM_080651.2	71	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS6323.1	212	MUTECT|MUSE	.	AACATATCAAG	NONE	.	.	hmmpanther:PTHR31705,Pfam_domain:PF11315	.	.	ENSP00000297347	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297347	Transcript	.	.	ENSG00000164758	23032	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.54)	.	MED30_HUMAN	MED30	HGNC	.	.	UPI00000369F8	SNV	MED30,missense_variant,p.Tyr71Phe,ENST00000297347,;MED30,missense_variant,p.Tyr71Phe,ENST00000522839,;MED30,non_coding_transcript_exon_variant,,ENST00000519879,;MED30,upstream_gene_variant,,ENST00000519391,;RPS10P16,upstream_gene_variant,,ENST00000483812,;	376	139	144	SUCCESS
EPPK1	83481	.	GRCh37	8	144942098	144942098	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	29	117	0	ENST00000525985.1:c.5324A>G	p.His1775Arg	p.H1775R	ENST00000525985	NM_031308.2	1775	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	.	5324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGTGTCTC	NONE	.	.	hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	COSM1644573	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	.	1	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.His1775Arg,ENST00000525985,;	5396	117	166	SUCCESS
OPLAH	26873	.	GRCh37	8	145114666	145114666	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	35	0	ENST00000426825.1:c.199C>T	p.Gln67Ter	p.Q67*	ENST00000426825	NM_017570.3	67	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTGGTCCC	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF05378	.	.	ENSP00000475943	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,stop_gained,p.Gln67Ter,ENST00000426825,;OPLAH,non_coding_transcript_exon_variant,,ENST00000567871,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,upstream_gene_variant,,ENST00000531027,;	281	35	46	SUCCESS
RECQL4	9401	.	GRCh37	8	145739845	145739845	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375562152	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	64	0	ENST00000428558.2:c.1685G>A	p.Arg562Gln	p.R562Q	ENST00000428558	NM_004260.3	562	cGg/cAg	0	T:0.0005	.	.	.	.	T	R/Q	protein_coding	YES	.	1685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	ATTCCCGTTGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51192,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1,TIGRFAM_domain:TIGR00614,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	T:0	ENSP00000475456	.	10/22	.	.	.	.	.	.	.	.	rs375562152	10/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.118)	.	deleterious(0.04)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Arg19Gln,ENST00000534626,;RECQL4,missense_variant,p.Arg562Gln,ENST00000428558,;RECQL4,missense_variant,p.Arg181Gln,ENST00000532846,;MFSD3,downstream_gene_variant,,ENST00000301327,;LRRC14,upstream_gene_variant,,ENST00000525766,;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;CTD-2517M22.17,downstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;LRRC14,upstream_gene_variant,,ENST00000531310,;	1727	64	65	SUCCESS
REEP4	80346	.	GRCh37	8	21998971	21998971	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	26	103	0	ENST00000306306.3:c.25C>A	p.Leu9Met	p.L9M	ENST00000306306	NM_025232.2	9	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6024.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGCGAC	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF36,Pfam_domain:PF03134	.	.	ENSP00000303482	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000306306	Transcript	.	.	ENSG00000168476	26176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0.03)	.	REEP4_HUMAN	REEP4	HGNC	.	.	UPI000006E42E	SNV	REEP4,missense_variant,p.Leu9Met,ENST00000306306,;REEP4,missense_variant,p.Leu9Met,ENST00000518664,;REEP4,missense_variant,p.Leu9Met,ENST00000521744,;REEP4,missense_variant,p.Leu9Met,ENST00000334530,;REEP4,missense_variant,p.Leu9Met,ENST00000523293,;REEP4,non_coding_transcript_exon_variant,,ENST00000519875,;REEP4,non_coding_transcript_exon_variant,,ENST00000519074,;	494	103	118	SUCCESS
RP1	6101	.	GRCh37	8	55533899	55533899	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770787145	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	5	98	0	ENST00000220676.1:c.373C>T	p.Arg125Trp	p.R125W	ENST00000220676	NM_006269.1	125	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6160.1	373	MUTECT|MUSE	.	GCCCGCGGCCC	NONE	.	.	Superfamily_domains:SSF89837,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs770787145,COSM2719118	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.836)	.	deleterious(0.02)	0,1	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Arg125Trp,ENST00000220676,;	521	98	92	SUCCESS
ASPH	444	.	GRCh37	8	62626832	62626832	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	43	0	ENST00000379454.4:c.99G>A	p.Arg33=	p.R33=	ENST00000379454	NM_004318.3	33	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34898.1	99	MUTECT|MUSE	.	CCTCTCCGGGC	NONE	.	.	hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF20	.	.	ENSP00000368767	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,synonymous_variant,p.%3D,ENST00000518068,;ASPH,synonymous_variant,p.%3D,ENST00000517856,;ASPH,synonymous_variant,p.%3D,ENST00000379454,;ASPH,synonymous_variant,p.%3D,ENST00000356457,;ASPH,synonymous_variant,p.%3D,ENST00000379449,;ASPH,synonymous_variant,p.%3D,ENST00000519234,;MIR4470,upstream_gene_variant,,ENST00000583453,;	287	43	75	SUCCESS
PREX2	80243	.	GRCh37	8	69021855	69021855	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	22	143	0	ENST00000288368.4:c.3143A>T	p.Asp1048Val	p.D1048V	ENST00000288368	NM_024870.2	1048	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6201.1	3143	RADIA|MUTECT|MUSE|VARSCANS	.	AATAGATGAGT	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.187)	.	tolerated_low_confidence(0.11)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Asp1048Val,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;	3420	143	169	SUCCESS
OR13C5	138799	.	GRCh37	9	107360936	107360936	+	synonymous_variant	Silent	SNP	C	C	A	rs768696058	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	151	0	ENST00000374779.2:c.759G>T	p.Gly253=	p.G253=	ENST00000374779	NM_001004482.1	253	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS35091.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCCCACA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF121,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000363911	.	1/1	.	.	.	.	.	.	.	.	rs768696058,COSM3925831	1/1	PASS	ENST00000374779	Transcript	.	.	ENSG00000255800	15100	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	O13C5_HUMAN	OR13C5	HGNC	.	.	UPI0000041D12	SNV	OR13C5,synonymous_variant,p.%3D,ENST00000374779,;	853	151	118	SUCCESS
PTPN3	5774	.	GRCh37	9	112151605	112151606	+	frameshift_variant	Frame_Shift_Del	DEL	GG	GG	-	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	71	0	ENST00000374541.2:c.2160_2161del	p.Leu721AlafsTer90	p.L721Afs*90	ENST00000374541	NM_001145368.1	720	ccCCtg/cctg	0	.	.	.	.	.	-	PL/PX	protein_coding	YES	CCDS6776.1	2160-2161	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGCAGGGGCCC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000363667	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000374541	Transcript	.	.	ENSG00000070159	9655	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTN3_HUMAN	PTPN3	HGNC	B7Z8K9_HUMAN	.	UPI000013D2D2	deletion	PTPN3,frameshift_variant,p.Leu545AlafsTer90,ENST00000446349,;PTPN3,frameshift_variant,p.Leu590AlafsTer90,ENST00000412145,;PTPN3,frameshift_variant,p.Leu189AlafsTer90,ENST00000394827,;PTPN3,frameshift_variant,p.Leu567AlafsTer90,ENST00000262539,;PTPN3,frameshift_variant,p.Leu721AlafsTer90,ENST00000374541,;PTPN3,non_coding_transcript_exon_variant,,ENST00000497739,;	2265-2266	71	81	SUCCESS
OR1Q1	158131	.	GRCh37	9	125377800	125377800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	131	0	ENST00000297913.2:c.784C>A	p.Pro262Thr	p.P262T	ENST00000297913	NM_012364.1	262	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS35125.1	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCCCCTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF92,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000297913	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000297913	Transcript	.	.	ENSG00000165202	8223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR1Q1_HUMAN	OR1Q1	HGNC	.	.	UPI000003CACD	SNV	OR1Q1,missense_variant,p.Pro262Thr,ENST00000297913,;RP11-64P14.7,intron_variant,,ENST00000431442,;RP11-64P14.7,upstream_gene_variant,,ENST00000419604,;	853	131	117	SUCCESS
AK8	158067	.	GRCh37	9	135753494	135753494	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	6	103	0	ENST00000298545.3:c.84+65G>C		p.*28*	ENST00000298545	NM_152572.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6955.1	.	MUTECT|MUSE	.	CGCACCCGACG	NONE	.	791	.	.	.	ENSP00000298546	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000350499	Transcript	.	.	ENSG00000165698	1367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CI009_HUMAN	C9orf9	HGNC	.	.	UPI0000049CA1	SNV	C9orf9,5_prime_UTR_variant,,ENST00000372136,;AK8,intron_variant,,ENST00000298545,;C9orf9,upstream_gene_variant,,ENST00000350499,;C9orf9,upstream_gene_variant,,ENST00000356311,;AK8,intron_variant,,ENST00000477396,;AK8,intron_variant,,ENST00000476719,;	.	103	94	SUCCESS
CNTLN	54875	.	GRCh37	9	17309099	17309099	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	288	64	433	0	ENST00000380647.3:c.1190A>T	p.Asn397Ile	p.N397I	ENST00000380647		397	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS43789.1	1190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAATGAAG	NONE	.	.	hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious(0)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Asn397Ile,ENST00000425824,;CNTLN,missense_variant,p.Asn397Ile,ENST00000262360,;CNTLN,missense_variant,p.Asn397Ile,ENST00000380647,;	1274	434	352	SUCCESS
TAF1L	138474	.	GRCh37	9	32632416	32632416	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	36	166	0	ENST00000242310.4:c.3162A>T	p.Glu1054Asp	p.E1054D	ENST00000242310	NM_153809.2	1054	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS35003.1	3162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTTCTGT	NONE	.	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.65)	.	deleterious(0.01)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Glu1054Asp,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	3252	166	171	SUCCESS
PTENP1	11191	.	GRCh37	9	33676226	33676226	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	21	221	0	ENST00000532280.1:n.1272C>T		p.*424*	ENST00000532280				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGATGTA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532280	Transcript	.	.	ENSG00000237984	9589	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PTENP1	HGNC	.	.	.	SNV	PTENP1,non_coding_transcript_exon_variant,,ENST00000532280,;PTENP1,non_coding_transcript_exon_variant,,ENST00000447117,;PTENP1,non_coding_transcript_exon_variant,,ENST00000451527,;	1272	221	236	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43853600	43853600	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	379	45	398	0	ENST00000377561.2:n.2006G>T		p.*669*	ENST00000377561		620		0	.	.	.	.	.	T	V	protein_coding	YES	CCDS55312.1	1860	RADIA|VARSCANS	.	CTTGTGTACTG	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:3.90.215.10,Superfamily_domains:SSF56496	.	.	ENSP00000366787	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,synonymous_variant,p.%3D,ENST00000377564,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000491438,;CNTNAP3B,synonymous_variant,p.%3D,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;	2253	398	424	SUCCESS
RLN1	6013	.	GRCh37	9	5335462	5335462	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	70	0	ENST00000223862.1:c.347T>A	p.Val116Glu	p.V116E	ENST00000223862	NM_006911.3	116	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS6462.1	347	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTACATAC	NONE	.	.	hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF5,Pfam_domain:PF00049,SMART_domains:SM00078	.	.	ENSP00000223862	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000223862	Transcript	.	.	ENSG00000107018	10026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.896)	.	tolerated(0.13)	.	REL1_HUMAN	RLN1	HGNC	.	.	UPI000002C183	SNV	RLN1,missense_variant,p.Val116Glu,ENST00000223862,;RLN1,3_prime_UTR_variant,,ENST00000223858,;RLN1,non_coding_transcript_exon_variant,,ENST00000487557,;	474	70	73	SUCCESS
SPATA31C1	441452	.	GRCh37	9	90534168	90534168	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	12	339	0	ENST00000437823.2:n.219-2A>C		p.X73_splice	ENST00000437823		73		0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	CTCCCAGCGTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420021	Transcript	.	.	ENSG00000230246	27846	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SPATA31C1	HGNC	.	.	.	SNV	SPATA31C1,non_coding_transcript_exon_variant,,ENST00000602681,;SPATA31C1,splice_acceptor_variant,,ENST00000437823,;SPATA31C1,intron_variant,,ENST00000420021,;	.	339	239	SUCCESS
GLA	2717	.	GRCh37	X	100662799	100662799	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	10	129	0	ENST00000218516.3:c.93A>T	p.Ala31=	p.A31=	ENST00000218516	NM_000169.2	31	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14484.1	93	MUTECT|MUSE	.	TCCAGTGCTCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF15,Gene3D:3.20.20.70	.	.	ENSP00000218516	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000218516	Transcript	.	.	ENSG00000102393	4296	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AGAL_HUMAN	GLA	HGNC	Q6LER7_HUMAN,Q53Y83_HUMAN	.	UPI0000033A30	SNV	GLA,synonymous_variant,p.%3D,ENST00000218516,;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,;HNRNPH2,upstream_gene_variant,,ENST00000316594,;GLA,non_coding_transcript_exon_variant,,ENST00000480513,;GLA,non_coding_transcript_exon_variant,,ENST00000479445,;GLA,non_coding_transcript_exon_variant,,ENST00000486121,;GLA,synonymous_variant,p.%3D,ENST00000493905,;	115	129	203	SUCCESS
IGSF1	3547	.	GRCh37	X	130420435	130420435	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	68	0	ENST00000361420.3:c.73A>C	p.Met25Leu	p.M25L	ENST00000361420		25	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS55491.1	73	MUTECT|MUSE	.	ACTCATCCCTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000359940	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000370903	Transcript	.	.	ENSG00000147255	5948	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	IGSF1_HUMAN	IGSF1	HGNC	.	.	UPI0000E0C769	SNV	IGSF1,missense_variant,p.Met25Leu,ENST00000370900,;IGSF1,missense_variant,p.Met25Leu,ENST00000361420,;IGSF1,missense_variant,p.Met25Leu,ENST00000370903,;IGSF1,missense_variant,p.Met25Leu,ENST00000370901,;IGSF1,intron_variant,,ENST00000370904,;IGSF1,intron_variant,,ENST00000370910,;	356	68	102	SUCCESS
ZBED1	9189	.	GRCh37	X	2408075	2408075	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1258580434	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	8	89	1	ENST00000381218.3:c.686G>A	p.Gly229Asp	p.G229D	ENST00000381218		229	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS14118.1	686	MUTECT|VARSCANS	.	GGGAGCCCATG	NONE	.	.	Superfamily_domains:SSF53098,hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF2	.	.	ENSP00000370621	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381223	Transcript	.	.	ENSG00000214717	447	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.62)	.	ZBED1_HUMAN	ZBED1	HGNC	C9JXP4_HUMAN	.	UPI0000073DE9	SNV	ZBED1,missense_variant,p.Gly229Asp,ENST00000381223,;ZBED1,missense_variant,p.Gly229Asp,ENST00000461691,;ZBED1,missense_variant,p.Gly229Asp,ENST00000381222,;ZBED1,missense_variant,p.Gly229Asp,ENST00000381218,;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000334651,;DHRSX,intron_variant,,ENST00000412516,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,upstream_gene_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	890	90	85	SUCCESS
RBM10	8241	.	GRCh37	X	47041263	47041263	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	39	0	ENST00000329236.7:c.1457A>T	p.Tyr486Phe	p.Y486F	ENST00000329236	NM_001204466.1	486	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS14274.1	1691	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTACCGTG	NONE	.	.	hmmpanther:PTHR13948:SF4,hmmpanther:PTHR13948	.	.	ENSP00000366829	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000377604	Transcript	.	.	ENSG00000182872	9896	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.137)	.	tolerated(0.05)	.	RBM10_HUMAN	RBM10	HGNC	.	.	UPI0000070DF1	SNV	RBM10,missense_variant,p.Tyr486Phe,ENST00000329236,;RBM10,missense_variant,p.Tyr564Phe,ENST00000377604,;RBM10,missense_variant,p.Tyr487Phe,ENST00000345781,;RBM10,downstream_gene_variant,,ENST00000478410,;RBM10,downstream_gene_variant,,ENST00000496012,;	2433	39	35	SUCCESS
BMP15	9210	.	GRCh37	X	50659241	50659241	+	synonymous_variant	Silent	SNP	T	T	C	rs782428082	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	67	161	0	ENST00000252677.3:c.813T>C	p.Gly271=	p.G271=	ENST00000252677	NM_005448.2	271	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS14334.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTATCTC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22	.	.	ENSP00000252677	.	2/2	.	.	.	.	.	.	.	.	rs782428082	2/2	PASS	ENST00000252677	Transcript	.	.	ENSG00000130385	1068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP15_HUMAN	BMP15	HGNC	.	.	UPI000013CD7C	SNV	BMP15,synonymous_variant,p.%3D,ENST00000252677,;	813	161	136	SUCCESS
ALAS2	212	.	GRCh37	X	55054235	55054235	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	53	0	ENST00000330807.5:c.-15-1787A>G		p.*5*	ENST00000330807	NM_000032.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14366.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTCTCAT	NONE	.	.	.	.	.	ENSP00000332369	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330807	Transcript	.	.	ENSG00000158578	397	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEM0_HUMAN	ALAS2	HGNC	Q9H366_HUMAN,Q6QNT2_HUMAN	.	UPI000012C3FE	SNV	ALAS2,synonymous_variant,p.%3D,ENST00000396198,;ALAS2,intron_variant,,ENST00000335854,;ALAS2,intron_variant,,ENST00000330807,;ALAS2,intron_variant,,ENST00000455688,;ALAS2,intron_variant,,ENST00000477869,;ALAS2,intron_variant,,ENST00000463868,;ALAS2,intron_variant,,ENST00000493869,;	.	53	58	SUCCESS
SHOX	6473	.	GRCh37	X	591334	591334	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	43	0	ENST00000381578.1:c.-299A>T		p.*100*	ENST00000381578	NM_000451.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14107.1	.	MUTECT|MUSE	.	GCACCAAGGTG	NONE	.	.	.	.	.	ENSP00000370990	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000381578	Transcript	.	.	ENSG00000185960	10853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SHOX_HUMAN	SHOX	HGNC	.	.	UPI0000053471	SNV	SHOX,5_prime_UTR_variant,,ENST00000334060,;SHOX,5_prime_UTR_variant,,ENST00000381578,;SHOX,upstream_gene_variant,,ENST00000554971,;SHOX,upstream_gene_variant,,ENST00000381575,;	393	44	28	SUCCESS
PCDH11X	27328	.	GRCh37	X	91137937	91137937	+	intron_variant	Intron	SNP	G	G	A	rs780165314	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	253	396	1	ENST00000373094.1:c.3033+3665G>A		p.*1011*	ENST00000373094	NM_032968.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14461.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTGCAGTG	NONE	.	.	.	.	.	ENSP00000362186	.	.	.	.	.	.	.	.	.	.	rs780165314	.	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Cys1022Tyr,ENST00000395337,;PCDH11X,intron_variant,,ENST00000373088,;PCDH11X,intron_variant,,ENST00000298274,;PCDH11X,intron_variant,,ENST00000504220,;PCDH11X,intron_variant,,ENST00000406881,;PCDH11X,intron_variant,,ENST00000373094,;PCDH11X,intron_variant,,ENST00000373097,;PCDH11X,intron_variant,,ENST00000361655,;PCDH11X,downstream_gene_variant,,ENST00000361724,;	.	397	431	SUCCESS
PDCD11	22984	.	GRCh37	10	105203771	105203771	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775312634	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	72	0	ENST00000369797.3:c.5224G>T	p.Ala1742Ser	p.A1742S	ENST00000369797	NM_014976.1	1742	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31276.1	5224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGCAGCC	NONE	byFrequency	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,Gene3D:1.25.40.10,Pfam_domain:PF05843,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000358812	.	34/36	.	.	.	.	.	.	.	.	rs775312634	34/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.05)	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,missense_variant,p.Ala1742Ser,ENST00000369797,;CALHM2,downstream_gene_variant,,ENST00000369788,;CALHM2,downstream_gene_variant,,ENST00000260743,;PDCD11,upstream_gene_variant,,ENST00000478543,;	5318	72	36	SUCCESS
MKI67	4288	.	GRCh37	10	129914055	129914055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	42	0	ENST00000368654.3:c.617T>C	p.Ile206Thr	p.I206T	ENST00000368654	NM_002417.4	206	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS7659.1	617	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAATTTCT	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	.	ENSP00000357643	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.177)	.	tolerated(0.41)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Ile206Thr,ENST00000368654,;MKI67,intron_variant,,ENST00000368653,;MKI67,non_coding_transcript_exon_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,;	993	42	21	SUCCESS
GPR158	57512	.	GRCh37	10	25887911	25887911	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	102	0	ENST00000376351.3:c.3356A>C	p.Glu1119Ala	p.E1119A	ENST00000376351	NM_020752.2	1119	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS31166.1	3356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGAACTGC	NONE	.	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	deleterious(0.01)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Glu1119Ala,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	3715	102	38	SUCCESS
WDFY4	57705	.	GRCh37	10	49982595	49982595	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	70	0	ENST00000325239.5:c.2646G>T	p.Leu882Phe	p.L882F	ENST00000325239	NM_020945.1	882	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS44385.1	2646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTGCTTGG	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000320563	.	13/61	.	.	.	.	.	.	.	.	.	13/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.466)	.	deleterious(0)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Leu882Phe,ENST00000413659,;WDFY4,missense_variant,p.Leu882Phe,ENST00000325239,;	2673	70	51	SUCCESS
PYGM	5837	.	GRCh37	11	64518935	64518935	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	83	0	ENST00000164139.3:c.1831G>A	p.Ala611Thr	p.A611T	ENST00000164139	NM_005609.2	611	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8079.1	1831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCAGCCT	BUFFER|p.A610P|c.1828G>C|9	.	.	Superfamily_domains:SSF53756,PIRSF_domain:PIRSF000460,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,Gene3D:3.40.50.2000,hmmpanther:PTHR11468:SF1,hmmpanther:PTHR11468	.	.	ENSP00000164139	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000164139	Transcript	.	.	ENSG00000068976	9726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PYGM_HUMAN	PYGM	HGNC	.	.	UPI000013C5AC	SNV	PYGM,missense_variant,p.Ala611Thr,ENST00000164139,;PYGM,missense_variant,p.Ala523Thr,ENST00000377432,;PYGM,non_coding_transcript_exon_variant,,ENST00000462303,;PYGM,downstream_gene_variant,,ENST00000460413,;PYGM,upstream_gene_variant,,ENST00000483742,;	2230	83	62	SUCCESS
CUX2	23316	.	GRCh37	12	111772269	111772269	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756425143	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	115	0	ENST00000261726.6:c.2951C>T	p.Ser984Leu	p.S984L	ENST00000261726	NM_015267.3	984	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS41837.1	2951	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCACCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	19/22	.	.	.	.	.	.	.	.	rs756425143	19/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.616)	.	deleterious(0.02)	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	SNV	CUX2,missense_variant,p.Ser984Leu,ENST00000261726,;	3105	115	65	SUCCESS
CACNA1C	775	.	GRCh37	12	2800310	2800310	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759953087	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	29	162	0	ENST00000347598.4:c.6506G>T	p.Gly2169Val	p.G2169V	ENST00000347598	NM_199460.2	2169	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44788.1	6506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGTCGAC	NONE	.	.	.	.	.	ENSP00000266376	.	49/49	.	.	.	.	.	.	.	.	rs759953087	49/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.24)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Gly2121Val,ENST00000399644,;CACNA1C,missense_variant,p.Gly2129Val,ENST00000399595,;CACNA1C,missense_variant,p.Gly2192Val,ENST00000406454,;CACNA1C,missense_variant,p.Gly2156Val,ENST00000399617,;CACNA1C,missense_variant,p.Gly2169Val,ENST00000347598,;CACNA1C,missense_variant,p.Gly2140Val,ENST00000402845,;CACNA1C,missense_variant,p.Gly2156Val,ENST00000327702,;CACNA1C,missense_variant,p.Gly2192Val,ENST00000399634,;CACNA1C,missense_variant,p.Gly2121Val,ENST00000399641,;CACNA1C,missense_variant,p.Gly2121Val,ENST00000399603,;CACNA1C,missense_variant,p.Gly2138Val,ENST00000399629,;CACNA1C,missense_variant,p.Gly2121Val,ENST00000399601,;CACNA1C,missense_variant,p.Gly2121Val,ENST00000399597,;CACNA1C,missense_variant,p.Gly2121Val,ENST00000399655,;CACNA1C,missense_variant,p.Gly2141Val,ENST00000399606,;CACNA1C,missense_variant,p.Gly2140Val,ENST00000399637,;CACNA1C,missense_variant,p.Gly2146Val,ENST00000335762,;CACNA1C,missense_variant,p.Gly2129Val,ENST00000399591,;CACNA1C,missense_variant,p.Gly2140Val,ENST00000399621,;CACNA1C,missense_variant,p.Gly2149Val,ENST00000399638,;CACNA1C,missense_variant,p.Gly2162Val,ENST00000344100,;CACNA1C,missense_variant,p.Gly2127Val,ENST00000399649,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000544517,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000541673,;CACNA1C-AS1,upstream_gene_variant,,ENST00000501371,;	6506	162	101	SUCCESS
NACA	4666	.	GRCh37	12	57113526	57113526	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	149	0	ENST00000356769.3:c.70+4710G>A		p.*24*	ENST00000356769	NM_001113202.1	596		0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44925.2	1788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCCCAAG	NONE	.	.	hmmpanther:PTHR21713:SF3,hmmpanther:PTHR21713	.	.	ENSP00000448035	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000550952	Transcript	.	.	ENSG00000196531	7629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NACA	HGNC	F8W1N5_HUMAN,F8VZJ2_HUMAN	.	UPI000014145D	SNV	NACA,synonymous_variant,p.%3D,ENST00000550952,;NACA,synonymous_variant,p.%3D,ENST00000454682,;NACA,intron_variant,,ENST00000546862,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000356769,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000549855,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551793,;NACA,upstream_gene_variant,,ENST00000550343,;NACA,intron_variant,,ENST00000548084,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000551520,;	1827	149	68	SUCCESS
LEPREL2	0	.	GRCh37	12	6943151	6943151	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs782171760	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	50	0	ENST00000290510.8:n.929C>T		p.*310*	ENST00000290510		465		0	.	.	.	.	.	T	R/W	protein_coding	YES	.	1393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCGGGCG	NONE	byFrequency	.	SMART_domains:SM00702,hmmpanther:PTHR14049:SF14,hmmpanther:PTHR14049	.	.	ENSP00000379951	.	10/16	.	.	.	.	.	.	.	.	rs782171760,COSM942951,COSM942950	10/16	PASS	ENST00000396725	Transcript	.	.	ENSG00000110811	19318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	.	LEPREL2	HGNC	G8JLI6_HUMAN	.	UPI00001AF55A	SNV	LEPREL2,missense_variant,p.Arg281Trp,ENST00000251761,;LEPREL2,missense_variant,p.Arg465Trp,ENST00000396725,;GPR162,downstream_gene_variant,,ENST00000545321,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000538102,;LEPREL2,downstream_gene_variant,,ENST00000544813,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000290510,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544200,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000545596,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544949,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000540406,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000542976,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000541956,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000536140,;LEPREL2,synonymous_variant,p.%3D,ENST00000606935,;	1427	50	35	SUCCESS
SPERT	0	.	GRCh37	13	46287798	46287798	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769761456	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	37	0	ENST00000310521.1:c.638G>A	p.Arg213Gln	p.R213Q	ENST00000310521	NM_152719.1	213	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS9399.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGGGCCC	NONE	byFrequency	.	hmmpanther:PTHR21533:SF13,hmmpanther:PTHR21533	.	.	ENSP00000309189	.	3/3	.	.	.	.	.	.	.	.	rs769761456	3/3	PASS	ENST00000310521	Transcript	.	.	ENSG00000174015	30720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.69)	.	SPERT_HUMAN	SPERT	HGNC	.	.	UPI0000070F5F	SNV	SPERT,missense_variant,p.Arg177Gln,ENST00000378966,;SPERT,missense_variant,p.Arg213Gln,ENST00000310521,;SPERT,downstream_gene_variant,,ENST00000533564,;	718	37	35	SUCCESS
PLEKHO2	80301	.	GRCh37	15	65153739	65153739	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs200060372	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	37	0	ENST00000323544.4:c.448C>T	p.Arg150Ter	p.R150*	ENST00000323544	NM_025201.4	150	Cga/Tga	0	.	T:0	.	T:0.0014	.	T	R/*	protein_coding	YES	.	448	MUTECT|MUSE	.	GCCAGCGACGC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15871,hmmpanther:PTHR15871:SF2	T:0	.	ENSP00000397942	T:0	5/7	.	.	.	.	.	.	.	.	rs200060372,COSM700704	5/7	PASS	ENST00000437723	Transcript	.	T:0.0002	ENSG00000249240	.	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	T:0	.	0,1	.	AC069368.3	Clone_based_vega_gene	C9J4A7_HUMAN	.	UPI0000E59C72	SNV	AC069368.3,stop_gained,p.Arg150Ter,ENST00000437723,;PLEKHO2,stop_gained,p.Arg150Ter,ENST00000323544,;AC069368.3,non_coding_transcript_exon_variant,,ENST00000502574,;	517	37	38	SUCCESS
MESP2	145873	.	GRCh37	15	90320149	90320149	+	synonymous_variant	Silent	SNP	G	G	A	rs767474985	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	35	0	ENST00000341735.3:c.561G>A	p.Gly187=	p.G187=	ENST00000341735	NM_001039958.1	187	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42078.1	561	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGGGCAGGG	SITE|p.G187G|c.561G>A|3	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20937:SF6,hmmpanther:PTHR20937	.	.	ENSP00000342392	.	1/2	.	.	.	.	.	.	.	.	rs767474985,COSM3754568	1/2	common_in_exac	ENST00000341735	Transcript	1	.	ENSG00000188095	29659	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	MESP2_HUMAN	MESP2	HGNC	.	.	UPI00006E232B	SNV	MESP2,synonymous_variant,p.%3D,ENST00000341735,;MESP2,intron_variant,,ENST00000560219,;MESP2,intron_variant,,ENST00000558723,;	561	35	37	SUCCESS
WDR90	197335	.	GRCh37	16	717526	717526	+	synonymous_variant	Silent	SNP	C	C	T	rs373944645	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	31	0	ENST00000293879.4:c.5184C>T	p.Ser1728=	p.S1728=	ENST00000293879		1728	tcC/tcT	0	T:0	T:0	.	T:0.0014	.	T	S	protein_coding	YES	CCDS42092.1	5184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCCGCCAG	BUFFER|p.P1727P|c.5181G>T|4	byCluster|by1000G	.	hmmpanther:PTHR13720:SF10,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	T:0	T:0.0001	ENSP00000293879	T:0	41/41	.	.	.	.	.	.	.	.	rs373944645	41/41	PASS	ENST00000293879	Transcript	.	T:0.0002	ENSG00000161996	26960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,missense_variant,p.Pro31Leu,ENST00000546896,;WDR90,synonymous_variant,p.%3D,ENST00000547944,;WDR90,synonymous_variant,p.%3D,ENST00000315764,;WDR90,synonymous_variant,p.%3D,ENST00000549091,;WDR90,synonymous_variant,p.%3D,ENST00000293879,;WDR90,3_prime_UTR_variant,,ENST00000551100,;RHOT2,upstream_gene_variant,,ENST00000315082,;RHOT2,upstream_gene_variant,,ENST00000563134,;RHOT2,upstream_gene_variant,,ENST00000561929,;RHOT2,upstream_gene_variant,,ENST00000569943,;WDR90,downstream_gene_variant,,ENST00000548603,;WDR90,downstream_gene_variant,,ENST00000547543,;WDR90,3_prime_UTR_variant,,ENST00000552728,;WDR90,non_coding_transcript_exon_variant,,ENST00000553080,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;RHOT2,upstream_gene_variant,,ENST00000569358,;RHOT2,upstream_gene_variant,,ENST00000568950,;WDR90,downstream_gene_variant,,ENST00000548448,;RHOT2,upstream_gene_variant,,ENST00000566214,;RHOT2,upstream_gene_variant,,ENST00000570092,;WDR90,downstream_gene_variant,,ENST00000546923,;RHOT2,upstream_gene_variant,,ENST00000569706,;RHOT2,upstream_gene_variant,,ENST00000569675,;WDR90,downstream_gene_variant,,ENST00000552683,;RHOT2,upstream_gene_variant,,ENST00000602564,;RHOT2,upstream_gene_variant,,ENST00000570280,;RHOT2,upstream_gene_variant,,ENST00000562333,;RHOT2,upstream_gene_variant,,ENST00000562708,;RHOT2,upstream_gene_variant,,ENST00000567017,;RHOT2,upstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000566965,;RHOT2,upstream_gene_variant,,ENST00000563776,;RHOT2,upstream_gene_variant,,ENST00000561983,;RHOT2,upstream_gene_variant,,ENST00000568636,;RHOT2,upstream_gene_variant,,ENST00000563637,;WDR90,downstream_gene_variant,,ENST00000546516,;RHOT2,upstream_gene_variant,,ENST00000562598,;RHOT2,upstream_gene_variant,,ENST00000565004,;RHOT2,upstream_gene_variant,,ENST00000561711,;	5184	31	21	SUCCESS
UNC45B	146862	.	GRCh37	17	33513464	33513464	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	121	0	ENST00000268876.5:c.2682C>G	p.Ile894Met	p.I894M	ENST00000268876	NM_173167.2	894	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS11292.1	2682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCCTGAC	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Ile813Met,ENST00000378449,;UNC45B,missense_variant,p.Ile892Met,ENST00000433649,;UNC45B,missense_variant,p.Ile894Met,ENST00000268876,;UNC45B,missense_variant,p.Ile813Met,ENST00000591048,;UNC45B,missense_variant,p.Ile892Met,ENST00000394570,;RP11-799D4.2,upstream_gene_variant,,ENST00000590144,;RP11-799D4.1,upstream_gene_variant,,ENST00000592961,;	2779	121	58	SUCCESS
RPTOR	57521	.	GRCh37	17	78796082	78796082	+	synonymous_variant	Silent	SNP	G	G	A	rs375226529	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	87	0	ENST00000306801.3:c.972G>A	p.Ala324=	p.A324=	ENST00000306801	NM_020761.2	324	gcG/gcA	0	A:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS11773.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCGTGGAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12848,Prints_domain:PR01547	.	A:0.0001	ENSP00000307272	.	8/34	.	.	.	.	.	.	.	.	rs375226529	8/34	PASS	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,synonymous_variant,p.%3D,ENST00000570891,;RPTOR,synonymous_variant,p.%3D,ENST00000537330,;RPTOR,synonymous_variant,p.%3D,ENST00000544334,;RPTOR,synonymous_variant,p.%3D,ENST00000306801,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;RPTOR,3_prime_UTR_variant,,ENST00000574767,;	1334	87	81	SUCCESS
CDH19	28513	.	GRCh37	18	64211432	64211432	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs371022067,rs770336548	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	90	0	ENST00000262150.2:c.990C>A	p.Tyr330Ter	p.Y330*	ENST00000262150	NM_021153.3	330	taC/taA	0	A:0,-:0.0007	.	.	.	.	T	Y/*	protein_coding	YES	CCDS11994.1	990	RADIA|MUSE	.	ATACCGTAGTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	A:0.0003,-:0	ENSP00000262150	.	7/12	.	.	.	.	.	.	.	.	rs371022067,rs770336548	7/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,stop_gained,p.Tyr330Ter,ENST00000540086,;CDH19,stop_gained,p.Tyr330Ter,ENST00000262150,;CDH19,stop_gained,p.Tyr319Ter,ENST00000454642,;CDH19,stop_gained,p.Tyr330Ter,ENST00000579658,;	1283	90	22	SUCCESS
HOOK2	29911	.	GRCh37	19	12880808	12880808	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	41	0	ENST00000397668.3:c.991del	p.Val331CysfsTer51	p.V331Cfs*51	ENST00000397668	NM_013312.2	331	Gtg/tg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS42508.1	991	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCGCACCTGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,Pfam_domain:PF05622	.	.	ENSP00000380785	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000397668	Transcript	.	.	ENSG00000095066	19885	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HOOK2_HUMAN	HOOK2	HGNC	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN	.	UPI00003D0BC0	deletion	HOOK2,frameshift_variant,p.Val258CysfsTer?,ENST00000589400,;HOOK2,frameshift_variant,p.Val331CysfsTer51,ENST00000397668,;HOOK2,frameshift_variant,p.Val331CysfsTer51,ENST00000264827,;HOOK2,downstream_gene_variant,,ENST00000588052,;HOOK2,downstream_gene_variant,,ENST00000587178,;HOOK2,downstream_gene_variant,,ENST00000592079,;HOOK2,downstream_gene_variant,,ENST00000587964,;HOOK2,downstream_gene_variant,,ENST00000590839,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,downstream_gene_variant,,ENST00000589765,;HOOK2,intron_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000589398,;HOOK2,downstream_gene_variant,,ENST00000586719,;HOOK2,downstream_gene_variant,,ENST00000592512,;HOOK2,upstream_gene_variant,,ENST00000586710,;HOOK2,downstream_gene_variant,,ENST00000586284,;HOOK2,upstream_gene_variant,,ENST00000591839,;HOOK2,upstream_gene_variant,,ENST00000592259,;HOOK2,downstream_gene_variant,,ENST00000589134,;HOOK2,downstream_gene_variant,,ENST00000591251,;HOOK2,downstream_gene_variant,,ENST00000592808,;HOOK2,downstream_gene_variant,,ENST00000591641,;HOOK2,downstream_gene_variant,,ENST00000593143,;	1065	41	53	SUCCESS
ZNF257	113835	.	GRCh37	19	22235373	22235373	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	27	0	ENST00000594947.1:c.-62T>C		p.*21*	ENST00000594947	NM_033468.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46030.1	.	RADIA|MUSE	.	GGCCCTGTGAC	NONE	.	.	.	.	.	ENSP00000470209	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000594947	Transcript	.	.	ENSG00000197134	13498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN257_HUMAN	ZNF257	HGNC	M0R0N1_HUMAN	.	UPI0000E045CA	SNV	ZNF257,5_prime_UTR_variant,,ENST00000597927,;ZNF257,5_prime_UTR_variant,,ENST00000594363,;ZNF257,5_prime_UTR_variant,,ENST00000600162,;ZNF257,5_prime_UTR_variant,,ENST00000594947,;AC003973.5,upstream_gene_variant,,ENST00000600071,;ZNF257,non_coding_transcript_exon_variant,,ENST00000596471,;ZNF257,5_prime_UTR_variant,,ENST00000435820,;ZNF257,5_prime_UTR_variant,,ENST00000597796,;	83	27	29	SUCCESS
RYR1	6261	.	GRCh37	19	38976748	38976748	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1274823763	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	88	0	ENST00000359596.3:c.5453C>T	p.Ala1818Val	p.A1818V	ENST00000359596		1818	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33011.1	5453	MUTECT|MUSE|VARSCANS	.	GGAGGCGGTGC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	34/106	.	.	.	.	.	.	.	.	COSM566525,COSM4077774	34/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.937)	.	.	1,1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ala1818Val,ENST00000355481,;RYR1,missense_variant,p.Ala1818Val,ENST00000360985,;RYR1,missense_variant,p.Ala1818Val,ENST00000359596,;	5453	88	43	SUCCESS
TRIM28	10155	.	GRCh37	19	59058830	59058830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	66	0	ENST00000253024.5:c.674A>T	p.Asp225Val	p.D225V	ENST00000253024	NM_005762.2	225	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS12985.1	674	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGATACTC	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF285,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:1freA00,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000253024	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000253024	Transcript	.	.	ENSG00000130726	16384	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TIF1B_HUMAN	TRIM28	HGNC	M0R3C0_HUMAN,M0QZE6_HUMAN	.	UPI0000136C15	SNV	TRIM28,missense_variant,p.Asp143Val,ENST00000341753,;TRIM28,missense_variant,p.Asp225Val,ENST00000253024,;TRIM28,missense_variant,p.Asp91Val,ENST00000594806,;TRIM28,missense_variant,p.Asp137Val,ENST00000593582,;CHMP2A,downstream_gene_variant,,ENST00000312547,;CHMP2A,downstream_gene_variant,,ENST00000600118,;TRIM28,downstream_gene_variant,,ENST00000597968,;CHMP2A,downstream_gene_variant,,ENST00000601220,;TRIM28,upstream_gene_variant,,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000596708,;CHMP2A,downstream_gene_variant,,ENST00000600006,;RN7SL525P,upstream_gene_variant,,ENST00000579267,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597423,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597618,;TRIM28,upstream_gene_variant,,ENST00000597172,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,upstream_gene_variant,,ENST00000598355,;TRIM28,upstream_gene_variant,,ENST00000601150,;TRIM28,upstream_gene_variant,,ENST00000595974,;TRIM28,upstream_gene_variant,,ENST00000597995,;TRIM28,upstream_gene_variant,,ENST00000595028,;TRIM28,upstream_gene_variant,,ENST00000600840,;	963	66	40	SUCCESS
C3	718	.	GRCh37	19	6713207	6713207	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	90	0	ENST00000245907.6:c.996G>A	p.Leu332=	p.L332=	ENST00000245907	NM_000064.2	332	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32883.1	996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGCAAGAT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	.	.	ENSP00000245907	.	9/41	.	.	.	.	.	.	.	.	.	9/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,synonymous_variant,p.%3D,ENST00000245907,;C3,non_coding_transcript_exon_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000594936,;	1089	90	64	SUCCESS
ITGA10	8515	.	GRCh37	1	145537466	145537466	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	102	0	ENST00000369304.3:c.2476G>C	p.Val826Leu	p.V826L	ENST00000369304	NM_003637.3	826	Gta/Cta	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS918.1	2476	MUTECT|MUSE	.	TGCTGGTATCT	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179	.	.	ENSP00000358310	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000369304	Transcript	.	.	ENSG00000143127	6135	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.077)	.	tolerated(0.05)	.	ITA10_HUMAN	ITGA10	HGNC	.	.	UPI000013D8D1	SNV	ITGA10,missense_variant,p.Val695Leu,ENST00000538811,;ITGA10,missense_variant,p.Val683Leu,ENST00000539363,;ITGA10,missense_variant,p.Val826Leu,ENST00000369304,;RP11-315I20.3,downstream_gene_variant,,ENST00000415065,;ITGA10,downstream_gene_variant,,ENST00000481236,;	2651	102	67	SUCCESS
SLAMF9	89886	.	GRCh37	1	159923926	159923926	+	start_lost	Translation_Start_Site	SNP	A	A	G	rs147539315	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	42	0	ENST00000368093.3:c.2T>C	p.Met1?	p.M1?	ENST00000368093	NM_033438.3	1	aTg/aCg	0	G:0	.	.	.	.	G	M/T	protein_coding	YES	CCDS1191.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACATGTCA	NONE	byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12080:SF18,hmmpanther:PTHR12080	.	G:0.0001	ENSP00000357072	.	1/4	.	.	.	.	.	.	.	.	rs147539315	1/4	PASS	ENST00000368093	Transcript	.	.	ENSG00000162723	18430	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious_low_confidence(0)	.	SLAF9_HUMAN	SLAMF9	HGNC	Q6NSE6_HUMAN	.	UPI000013E1B2	SNV	SLAMF9,start_lost,p.Met1?,ENST00000368093,;SLAMF9,start_lost,p.Met1?,ENST00000368092,;SLAMF9,non_coding_transcript_exon_variant,,ENST00000489098,;SLAMF9,upstream_gene_variant,,ENST00000466773,;	119	42	30	SUCCESS
LYST	1130	.	GRCh37	1	235916519	235916519	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	262	2	ENST00000389793.2:c.7285C>T	p.Pro2429Ser	p.P2429S	ENST00000389793	NM_000081.3	2429	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31062.1	7285	RADIA|SOMATICSNIPER|VARSCANS	.	AATAGGAATGA	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	26/53	.	.	.	.	.	.	.	.	.	26/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,missense_variant,p.Pro2429Ser,ENST00000389793,;LYST,missense_variant,p.Pro2429Ser,ENST00000389794,;LYST,upstream_gene_variant,,ENST00000487530,;	7460	264	89	SUCCESS
APP	351	.	GRCh37	21	27369713	27369713	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1368804197	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	126	0	ENST00000346798.3:c.1052A>G	p.Lys351Arg	p.K351R	ENST00000346798	NM_000484.3	351	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13576.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCTTGAGT	NONE	.	.	hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103	.	.	ENSP00000284981	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.46)	.	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,missense_variant,p.Lys86Arg,ENST00000415997,;APP,missense_variant,p.Lys295Arg,ENST00000359726,;APP,missense_variant,p.Lys351Arg,ENST00000358918,;APP,missense_variant,p.Lys351Arg,ENST00000346798,;APP,missense_variant,p.Lys295Arg,ENST00000439274,;APP,intron_variant,,ENST00000440126,;APP,intron_variant,,ENST00000357903,;APP,intron_variant,,ENST00000354192,;APP,intron_variant,,ENST00000448850,;APP,intron_variant,,ENST00000348990,;APP,intron_variant,,ENST00000448388,;APP,non_coding_transcript_exon_variant,,ENST00000491395,;	1086	126	52	SUCCESS
LSS	4047	.	GRCh37	21	47647474	47647475	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	115	0	ENST00000356396.4:c.310_311insA	p.Leu104HisfsTer35	p.L104Hfs*35	ENST00000356396	NM_001001438.2	104	ctc/cAtc	0	.	.	.	.	.	T	L/HX	protein_coding	YES	CCDS13733.1	310-311	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGGAGGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11764:SF12,hmmpanther:PTHR11764,Gene3D:1.50.10.20,TIGRFAM_domain:TIGR01787,Superfamily_domains:SSF48239	.	.	ENSP00000380837	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000397728	Transcript	.	.	ENSG00000160285	6708	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERG7_HUMAN	LSS	HGNC	.	.	UPI000012A14D	insertion	LSS,frameshift_variant,p.Leu24HisfsTer35,ENST00000457828,;LSS,frameshift_variant,p.Leu104HisfsTer35,ENST00000397728,;LSS,frameshift_variant,p.Leu104HisfsTer35,ENST00000356396,;LSS,frameshift_variant,p.Leu104HisfsTer32,ENST00000522411,;LSS,frameshift_variant,p.Leu105HisfsTer35,ENST00000450351,;MCM3AP-AS1,upstream_gene_variant,,ENST00000591223,;MCM3AP-AS1,upstream_gene_variant,,ENST00000590829,;MCM3AP-AS1,upstream_gene_variant,,ENST00000432735,;MCM3AP-AS1,upstream_gene_variant,,ENST00000588753,;MCM3AP-AS1,upstream_gene_variant,,ENST00000414659,;MCM3AP-AS1,upstream_gene_variant,,ENST00000444998,;MCM3AP-AS1,upstream_gene_variant,,ENST00000455567,;MCM3AP-AS1,upstream_gene_variant,,ENST00000421927,;MCM3AP-AS1,upstream_gene_variant,,ENST00000420074,;LSS,non_coding_transcript_exon_variant,,ENST00000464357,;LSS,non_coding_transcript_exon_variant,,ENST00000472272,;	389-390	115	58	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107460334	107460334	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	51	0	ENST00000361686.4:c.100A>C	p.Asn34His	p.N34H	ENST00000361686	NM_032528.2	34	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS2073.1	100	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTTGCTGT	NONE	.	.	hmmpanther:PTHR13713:SF48,hmmpanther:PTHR13713	.	.	ENSP00000386942	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.717)	.	.	.	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,missense_variant,p.Asn34His,ENST00000419159,;ST6GAL2,missense_variant,p.Asn34His,ENST00000409087,;ST6GAL2,missense_variant,p.Asn34His,ENST00000409382,;ST6GAL2,missense_variant,p.Asn34His,ENST00000361686,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	711	51	36	SUCCESS
C2orf66	401027	.	GRCh37	2	197672293	197672293	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	134	0	ENST00000342506.2:c.228A>T	p.Thr76=	p.T76=	ENST00000342506	NM_213608.2	76	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2317.1	228	MUTECT|MUSE|VARSCANS	.	GGAAATGTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF14	.	.	ENSP00000339384	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000342506	Transcript	.	.	ENSG00000187944	33809	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CB066_HUMAN	C2orf66	HGNC	.	.	UPI00001602CE	SNV	C2orf66,synonymous_variant,p.%3D,ENST00000342506,;	1117	134	30	SUCCESS
CAB39	51719	.	GRCh37	2	231675035	231675035	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	7	721	1	ENST00000258418.5:c.625A>G	p.Arg209Gly	p.R209G	ENST00000258418	NM_016289.3	209	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS2478.1	625	MUTECT|MUSE	.	ATGATAGAGTA	NONE	.	.	hmmpanther:PTHR10182,hmmpanther:PTHR10182:SF11,Pfam_domain:PF08569,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000258418	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000258418	Transcript	.	.	ENSG00000135932	20292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.24)	.	CAB39_HUMAN	CAB39	HGNC	Q53RN7_HUMAN,A8K8L7_HUMAN	.	UPI000003622D	SNV	CAB39,missense_variant,p.Arg209Gly,ENST00000409788,;CAB39,missense_variant,p.Arg209Gly,ENST00000410084,;CAB39,missense_variant,p.Arg209Gly,ENST00000258418,;CAB39,upstream_gene_variant,,ENST00000493540,;	1054	722	274	SUCCESS
ATL2	64225	.	GRCh37	2	38604337	38604337	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	13	132	0	ENST00000378954.4:c.66G>A	p.Arg22=	p.R22=	ENST00000378954	NM_001135673.1	22	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS46260.1	66	MUTECT|MUSE|VARSCANS	.	CTGGTCCGTCG	NONE	.	.	.	.	.	ENSP00000368237	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000378954	Transcript	.	.	ENSG00000119787	24047	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATLA2_HUMAN	ATL2	HGNC	B7ZA64_HUMAN	.	UPI00001B00A2	SNV	ATL2,synonymous_variant,p.%3D,ENST00000419554,;ATL2,synonymous_variant,p.%3D,ENST00000451483,;ATL2,synonymous_variant,p.%3D,ENST00000443098,;ATL2,synonymous_variant,p.%3D,ENST00000449130,;ATL2,synonymous_variant,p.%3D,ENST00000378954,;ATL2,5_prime_UTR_variant,,ENST00000539122,;ATL2,5_prime_UTR_variant,,ENST00000406122,;ATL2,upstream_gene_variant,,ENST00000332337,;ATL2,upstream_gene_variant,,ENST00000402054,;ATL2,upstream_gene_variant,,ENST00000452935,;ATL2,upstream_gene_variant,,ENST00000546051,;ATL2,synonymous_variant,p.%3D,ENST00000405384,;ATL2,synonymous_variant,p.%3D,ENST00000416222,;ATL2,synonymous_variant,p.%3D,ENST00000456736,;ATL2,non_coding_transcript_exon_variant,,ENST00000472097,;	68	132	139	SUCCESS
SLC9C1	285335	.	GRCh37	3	111940054	111940054	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	56	0	ENST00000305815.5:c.1591T>C	p.Tyr531His	p.Y531H	ENST00000305815	NM_183061.1	531	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS33817.1	1591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTATTGTC	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87	.	.	ENSP00000306627	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Tyr483His,ENST00000487372,;SLC9C1,missense_variant,p.Tyr531His,ENST00000305815,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;	1844	56	24	SUCCESS
COPG1	22820	.	GRCh37	3	128986867	128986867	+	synonymous_variant	Silent	SNP	A	A	G	rs967042433	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	88	0	ENST00000314797.6:c.1632A>G	p.Ala544=	p.A544=	ENST00000314797	NM_016128.3	544	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS33851.1	1632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCAGGCTA	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037093,Gene3D:1.25.10.10,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	.	ENSP00000325002	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,synonymous_variant,p.%3D,ENST00000314797,;COPG1,intron_variant,,ENST00000509889,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,downstream_gene_variant,,ENST00000513410,;COPG1,downstream_gene_variant,,ENST00000504547,;COPG1,upstream_gene_variant,,ENST00000512034,;COPG1,upstream_gene_variant,,ENST00000514478,;	1736	88	45	SUCCESS
PRRT3	285368	.	GRCh37	3	9989661	9989661	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	rs1276909885	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	58	0	ENST00000295984.3:c.1196G>A	p.Arg399His	p.R399H	ENST00000295984		399	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43049.1	1196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCGCCCC	NONE	.	.	hmmpanther:PTHR21712,hmmpanther:PTHR21712:SF27	.	.	ENSP00000392511	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000412055	Transcript	.	.	ENSG00000163704	26591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0.01)	.	PRRT3_HUMAN	PRRT3	HGNC	.	.	UPI000019962A	SNV	PRRT3,missense_variant,p.Arg399His,ENST00000412055,;CRELD1,downstream_gene_variant,,ENST00000435417,;CRELD1,downstream_gene_variant,,ENST00000452070,;PRRT3,downstream_gene_variant,,ENST00000411976,;CRELD1,downstream_gene_variant,,ENST00000383811,;CRELD1,downstream_gene_variant,,ENST00000326434,;CRELD1,downstream_gene_variant,,ENST00000397170,;PRRT3-AS1,intron_variant,,ENST00000431558,;CRELD1,downstream_gene_variant,,ENST00000489674,;PRRT3,missense_variant,p.Arg399His,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000467713,;CRELD1,downstream_gene_variant,,ENST00000414117,;CRELD1,downstream_gene_variant,,ENST00000482691,;	1326	58	42	SUCCESS
GUCY1A3	0	.	GRCh37	4	156643335	156643335	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs183373438	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	133	0	ENST00000296518.7:c.1862C>A	p.Thr621Lys	p.T621K	ENST00000296518		621	aCa/aAa	0	.	A:0.0008	.	A:0	.	A	T/K	protein_coding	YES	CCDS34085.1	1862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAACAACTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	A:0	.	ENSP00000296518	A:0	9/10	.	.	.	.	.	.	.	.	rs183373438	9/10	PASS	ENST00000296518	Transcript	1	A:0.0002	ENSG00000164116	4685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	deleterious(0)	.	GCYA3_HUMAN	GUCY1A3	HGNC	Q9NNW8_HUMAN,J3KPQ8_HUMAN	.	UPI0000033343	SNV	GUCY1A3,missense_variant,p.Thr621Lys,ENST00000506455,;GUCY1A3,missense_variant,p.Thr621Lys,ENST00000455639,;GUCY1A3,missense_variant,p.Thr621Lys,ENST00000513574,;GUCY1A3,missense_variant,p.Thr363Lys,ENST00000393832,;GUCY1A3,missense_variant,p.Thr621Lys,ENST00000511507,;GUCY1A3,missense_variant,p.Thr621Lys,ENST00000296518,;GUCY1A3,missense_variant,p.Thr621Lys,ENST00000511108,;GUCY1A3,3_prime_UTR_variant,,ENST00000515201,;GUCY1A3,3_prime_UTR_variant,,ENST00000443668,;GUCY1A3,3_prime_UTR_variant,,ENST00000509901,;	2071	133	40	SUCCESS
DTHD1	401124	.	GRCh37	4	36345214	36345214	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs531713656	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	149	0	ENST00000456874.2:c.2114G>A	p.Arg705His	p.R705H	ENST00000456874	NM_001170700.2	705	cGt/cAt	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS54754.1	2114	MUTECT|MUSE	.	GCGCCGTAGCA	NONE	by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50017,hmmpanther:PTHR24199:SF7,hmmpanther:PTHR24199,Pfam_domain:PF00531,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	A:0.001	.	ENSP00000401597	A:0	9/9	.	.	.	.	.	.	.	.	rs531713656	9/9	PASS	ENST00000456874	Transcript	.	A:0.0002	ENSG00000197057	37261	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	A:0	tolerated(0.13)	.	DTHD1_HUMAN	DTHD1	HGNC	.	.	UPI00006C079E	SNV	DTHD1,missense_variant,p.Arg705His,ENST00000456874,;DTHD1,missense_variant,p.Arg745His,ENST00000507598,;DTHD1,missense_variant,p.Arg540His,ENST00000357504,;RP11-431M7.2,intron_variant,,ENST00000504344,;DTHD1,non_coding_transcript_exon_variant,,ENST00000503528,;	2172	149	75	SUCCESS
PDGFRA	5156	.	GRCh37	4	55156540	55156540	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775205485	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	150	1	ENST00000257290.5:c.2941C>T	p.Arg981Cys	p.R981C	ENST00000257290	NM_006206.4	981	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3495.1	2941	RADIA|MUTECT|VARSCANS	.	GCATGCGTGTG	NONE	.	.	hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	.	.	ENSP00000257290	.	22/23	.	.	.	.	.	.	.	.	rs775205485	22/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.022)	.	tolerated(0.2)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	FIP1L1,missense_variant,p.Arg741Cys,ENST00000507166,;PDGFRA,missense_variant,p.Arg981Cys,ENST00000257290,;	3272	151	65	SUCCESS
MAN2B2	23324	.	GRCh37	4	6611736	6611736	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1205209076	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	121	0	ENST00000285599.3:c.2218C>T	p.Arg740Trp	p.R740W	ENST00000285599	NM_015274.1	740	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33951.1	2218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCGGAGG	NONE	.	.	hmmpanther:PTHR11607:SF5,hmmpanther:PTHR11607,Gene3D:2.70.98.30,Pfam_domain:PF07748,Superfamily_domains:SSF74650	.	.	ENSP00000285599	.	13/19	.	.	.	.	.	.	.	.	COSM1214332	13/19	PASS	ENST00000285599	Transcript	.	.	ENSG00000013288	29623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.932)	.	deleterious(0)	1	MA2B2_HUMAN	MAN2B2	HGNC	Q05BN7_HUMAN,B3KQN1_HUMAN	.	UPI000004BF05	SNV	MAN2B2,missense_variant,p.Arg689Trp,ENST00000504248,;MAN2B2,missense_variant,p.Arg739Trp,ENST00000505907,;MAN2B2,missense_variant,p.Arg740Trp,ENST00000285599,;MAN2B2,non_coding_transcript_exon_variant,,ENST00000504960,;	2254	121	74	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140741078	140741078	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	113	0	ENST00000522605.1:c.1376T>C	p.Val459Ala	p.V459A	ENST00000522605	NM_018923.2	459	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS54924.1	1376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTTCACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	tolerated(0.43)	.	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,missense_variant,p.Val459Ala,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	1376	113	74	SUCCESS
PCDHGA6	56109	.	GRCh37	5	140755848	140755848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	32	141	0	ENST00000517434.1:c.2198C>T	p.Ala733Val	p.A733V	ENST00000517434	NM_018919.2	733	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS54926.1	2198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGCGAGCA	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107	.	.	ENSP00000429601	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000517434	Transcript	.	.	ENSG00000253731	8704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.24)	.	PCDG6_HUMAN	PCDHGA6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000715C8	SNV	PCDHGA6,missense_variant,p.Ala733Val,ENST00000517434,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;	2198	141	129	SUCCESS
OR2J3	442186	.	GRCh37	6	29080267	29080267	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	121	0	ENST00000377169.1:c.600G>T	p.Leu200=	p.L200=	ENST00000377169	NM_001005216.3	200	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43433.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGACCCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,synonymous_variant,p.%3D,ENST00000377169,;	600	121	43	SUCCESS
TRIM10	10107	.	GRCh37	6	30121906	30121906	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs137941157	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	120	0	ENST00000449742.2:c.1286G>A	p.Arg429Gln	p.R429Q	ENST00000449742	NM_006778.3	429	cGg/cAg	0	A:0.0023	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34375.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCGGGGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF44,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	A:0	ENSP00000397073	.	7/7	.	.	.	.	.	.	.	.	rs137941157	7/7	PASS	ENST00000449742	Transcript	.	.	ENSG00000204613	10072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.14)	.	TRI10_HUMAN	TRIM10	HGNC	.	.	UPI000000D736	SNV	TRIM10,missense_variant,p.Arg429Gln,ENST00000449742,;TRIM10,intron_variant,,ENST00000376704,;	1362	120	84	SUCCESS
EYS	346007	.	GRCh37	6	66042220	66042220	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	67	0	ENST00000370616.2:c.1766+2653A>T		p.*589*	ENST00000370616				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47445.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTATATTCT	NONE	.	.	.	.	.	ENSP00000424243	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODIFIER	11/42	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,synonymous_variant,p.%3D,ENST00000393380,;EYS,intron_variant,,ENST00000370616,;EYS,intron_variant,,ENST00000370621,;EYS,intron_variant,,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000342421,;EYS,downstream_gene_variant,,ENST00000370618,;	.	67	25	SUCCESS
SP8	221833	.	GRCh37	7	20824044	20824046	+	inframe_deletion	In_Frame_Del	DEL	GCC	GCC	-	rs367927423	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	GCC	GCC	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	35	0	ENST00000361443.4:c.1336_1338del	p.Gly446del	p.G446del	ENST00000361443	NM_198956.2	446	GGC/-	0	.	.	.	.	.	-	G/-	protein_coding	YES	CCDS43555.1	1390-1392	INDELOCATOR|VARSCANI	.	CGCCGAGCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134	.	.	ENSP00000408792	.	2/2	.	.	.	.	.	.	.	.	rs776078614	2/2	PASS	ENST00000418710	Transcript	.	.	ENSG00000164651	19196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SP8_HUMAN	SP8	HGNC	.	.	UPI00001AADF2	deletion	SP8,inframe_deletion,p.Gly464del,ENST00000418710,;SP8,inframe_deletion,p.Gly446del,ENST00000361443,;	1478-1480	35	47	SUCCESS
SP8	221833	.	GRCh37	7	20824957	20824959	+	inframe_deletion	In_Frame_Del	DEL	CCG	CCG	-	rs749457306	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	CCG	CCG	.	.	.	.	.	.	.	.	.	.	.	.	.	102	8	75	0	ENST00000361443.4:c.423_425del	p.Gly147del	p.G147del	ENST00000361443	NM_198956.2	141	ggCGGg/ggg	0	-:0.0131	.	.	.	.	-	GG/G	protein_coding	YES	CCDS43555.1	477-479	INDELOCATOR|VARSCANI	.	CCGCCCCCGCCGCC	BUFFER|p.G143G|c.429C>G|3,BUFFER|p.G161G|c.483C>G|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134	.	-:0.0347	ENSP00000408792	.	2/2	.	.	.	.	.	.	.	.	rs780422296	2/2	PASS	ENST00000418710	Transcript	.	.	ENSG00000164651	19196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SP8_HUMAN	SP8	HGNC	.	.	UPI00001AADF2	deletion	SP8,inframe_deletion,p.Gly165del,ENST00000418710,;SP8,inframe_deletion,p.Gly147del,ENST00000361443,;	565-567	75	111	SUCCESS
RSBN1L	222194	.	GRCh37	7	77326048	77326048	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	72	0	ENST00000334955.8:c.262T>G	p.Phe88Val	p.F88V	ENST00000334955	NM_198467.2	88	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS43607.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTTTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354	.	.	ENSP00000334040	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000334955	Transcript	.	.	ENSG00000187257	24765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious_low_confidence(0.05)	.	RSBNL_HUMAN	RSBN1L	HGNC	C9JM20_HUMAN	.	UPI000020F469	SNV	RSBN1L,missense_variant,p.Phe88Val,ENST00000334955,;RSBN1L,upstream_gene_variant,,ENST00000445288,;RSBN1L-AS1,upstream_gene_variant,,ENST00000440088,;RSBN1L-AS1,upstream_gene_variant,,ENST00000398043,;RSBN1L-AS1,upstream_gene_variant,,ENST00000416650,;RSBN1L-AS1,upstream_gene_variant,,ENST00000447009,;RSBN1L-AS1,upstream_gene_variant,,ENST00000430801,;	289	72	73	SUCCESS
TBC1D31	93594	.	GRCh37	8	124084978	124084978	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	110	159	0	ENST00000287380.1:c.-32C>A		p.*11*	ENST00000287380	NM_145647.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6338.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCCAGCGGGCC	NONE	.	.	.	.	.	ENSP00000287380	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000287380	Transcript	.	.	ENSG00000156787	30888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBC31_HUMAN	TBC1D31	HGNC	E5RG45_HUMAN	.	UPI000013DEAB	SNV	TBC1D31,5_prime_UTR_variant,,ENST00000309336,;TBC1D31,5_prime_UTR_variant,,ENST00000522420,;TBC1D31,5_prime_UTR_variant,,ENST00000519418,;TBC1D31,5_prime_UTR_variant,,ENST00000327098,;TBC1D31,5_prime_UTR_variant,,ENST00000287380,;TBC1D31,intron_variant,,ENST00000520368,;TBC1D31,upstream_gene_variant,,ENST00000522276,;TBC1D31,upstream_gene_variant,,ENST00000378080,;TBC1D31,upstream_gene_variant,,ENST00000521676,;TBC1D31,upstream_gene_variant,,ENST00000518684,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;TBC1D31,upstream_gene_variant,,ENST00000524307,;	59	159	250	SUCCESS
RUNX1T1	862	.	GRCh37	8	93003968	93003968	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	111	0	ENST00000265814.3:c.890C>T	p.Pro297Leu	p.P297L	ENST00000265814	NM_001198628.1	297	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS56544.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGGTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.51)	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Pro308Leu,ENST00000436581,;RUNX1T1,missense_variant,p.Pro297Leu,ENST00000265814,;RUNX1T1,missense_variant,p.Pro270Leu,ENST00000518844,;RUNX1T1,missense_variant,p.Pro297Leu,ENST00000523629,;RUNX1T1,missense_variant,p.Pro260Leu,ENST00000360348,;RUNX1T1,missense_variant,p.Pro260Leu,ENST00000520724,;RUNX1T1,missense_variant,p.Pro270Leu,ENST00000396218,;RUNX1T1,missense_variant,p.Pro260Leu,ENST00000422361,;RUNX1T1,3_prime_UTR_variant,,ENST00000518361,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520047,;RUNX1T1,upstream_gene_variant,,ENST00000521751,;	934	111	88	SUCCESS
TSPYL5	85453	.	GRCh37	8	98289975	98289975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	21	56	0	ENST00000322128.3:c.98C>T	p.Pro33Leu	p.P33L	ENST00000322128	NM_033512.2	33	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34927.1	98	RADIA|MUTECT|MUSE	.	CGCGCGGGGCG	BUFFER|p.P29P|c.87G>A|9	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000322802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322128	Transcript	.	.	ENSG00000180543	29367	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated(0.14)	.	TSYL5_HUMAN	TSPYL5	HGNC	.	.	UPI0000210364	SNV	TSPYL5,missense_variant,p.Pro33Leu,ENST00000322128,;	202	56	129	SUCCESS
RBMXL3	139804	.	GRCh37	X	114425196	114425196	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs12399211	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	55	56	0	ENST00000424776.3:c.1192G>A	p.Asp398Asn	p.D398N	ENST00000424776	NM_001145346.1	398	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55478.1	1192	RADIA|MUTECT|MUSE	.	CGCCCGACGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	rs12399211,COSM4156535	1/1	common_in_exac	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.555)	.	deleterious_low_confidence(0)	0,1	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Asp398Asn,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	1234	56	90	SUCCESS
MKI67	4288	.	GRCh37	10	129903317	129903317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	78	0	ENST00000368654.3:c.6787G>T	p.Gly2263Trp	p.G2263W	ENST00000368654	NM_002417.4	2263	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS7659.1	6787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCTACTG	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Gly2263Trp,ENST00000368654,;MKI67,missense_variant,p.Gly1903Trp,ENST00000368653,;MKI67,upstream_gene_variant,,ENST00000464771,;	7163	78	65	SUCCESS
MASTL	84930	.	GRCh37	10	27454042	27454042	+	synonymous_variant	Silent	SNP	A	A	G	rs1345369865	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	31	160	0	ENST00000375940.4:c.603A>G	p.Arg201=	p.R201=	ENST00000375940		201	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS53502.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGACAAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,SMART_domains:SM00220	.	.	ENSP00000365107	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000375940	Transcript	1	.	ENSG00000120539	19042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GWL_HUMAN	MASTL	HGNC	.	.	UPI000004060D	SNV	MASTL,synonymous_variant,p.%3D,ENST00000375946,;MASTL,synonymous_variant,p.%3D,ENST00000375940,;MASTL,synonymous_variant,p.%3D,ENST00000342386,;MASTL,upstream_gene_variant,,ENST00000477034,;	660	160	113	SUCCESS
FRMPD2	143162	.	GRCh37	10	49381113	49381113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	11	112	0	ENST00000374201.3:c.3099A>T	p.Arg1033Ser	p.R1033S	ENST00000374201	NM_001018071.3	1033	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS31195.1	3099	RADIA|VARSCANS	.	ACTCTTCTCTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000363317	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,missense_variant,p.Arg1008Ser,ENST00000305531,;FRMPD2,missense_variant,p.Arg1033Ser,ENST00000374201,;FRMPD2,missense_variant,p.Arg1001Ser,ENST00000407470,;FRMPD2,5_prime_UTR_variant,,ENST00000474573,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000463706,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000491130,;FRMPD2,downstream_gene_variant,,ENST00000486151,;FRMPD2,downstream_gene_variant,,ENST00000477710,;	3402	112	91	SUCCESS
NRG3	10718	.	GRCh37	10	84745207	84745207	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs150401464	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	97	0	ENST00000404547.1:c.2009G>T	p.Arg670Leu	p.R670L	ENST00000404547		670	cGg/cTg	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS31233.1	1937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGGTCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18	.	A:0.0001	ENSP00000361214	.	9/9	.	.	.	.	.	.	.	.	rs150401464	9/9	PASS	ENST00000372141	Transcript	.	.	ENSG00000185737	7999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious_low_confidence(0)	.	NRG3_HUMAN	NRG3	HGNC	D9ZHQ8_HUMAN	.	UPI00003D64C0	SNV	NRG3,missense_variant,p.Arg450Leu,ENST00000404576,;NRG3,missense_variant,p.Arg670Leu,ENST00000404547,;NRG3,missense_variant,p.Arg476Leu,ENST00000556918,;NRG3,missense_variant,p.Arg449Leu,ENST00000372142,;NRG3,missense_variant,p.Arg296Leu,ENST00000537893,;NRG3,missense_variant,p.Arg296Leu,ENST00000545131,;NRG3,missense_variant,p.Arg646Leu,ENST00000372141,;NRG3,3_prime_UTR_variant,,ENST00000602794,;NRG3,3_prime_UTR_variant,,ENST00000555784,;	1964	97	61	SUCCESS
TBC1D12	23232	.	GRCh37	10	96162647	96162647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	31	0	ENST00000225235.4:c.277G>A	p.Gly93Ser	p.G93S	ENST00000225235	NM_015188.1	93	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS41553.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTGGCCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000225235	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000225235	Transcript	.	.	ENSG00000108239	29082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.14)	.	TBC12_HUMAN	TBC1D12	HGNC	B9A6L3_HUMAN	.	UPI00001C1ED6	SNV	TBC1D12,missense_variant,p.Gly93Ser,ENST00000225235,;	387	31	26	SUCCESS
CYP2C8	1558	.	GRCh37	10	96826978	96826978	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	23	109	0	ENST00000371270.3:c.468G>C	p.Leu156Phe	p.L156F	ENST00000371270	NM_000770.3	156	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS7438.1	468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTCAACTC	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360317	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000371270	Transcript	1	.	ENSG00000138115	2622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.547)	.	tolerated(0.15)	.	CP2C8_HUMAN	CYP2C8	HGNC	B7Z1F5_HUMAN	.	UPI0000128256	SNV	CYP2C8,missense_variant,p.Leu70Phe,ENST00000539050,;CYP2C8,missense_variant,p.Leu156Phe,ENST00000371270,;CYP2C8,missense_variant,p.Leu54Phe,ENST00000535898,;CYP2C8,missense_variant,p.Leu156Phe,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;	563	109	97	SUCCESS
ZFYVE27	118813	.	GRCh37	10	99509255	99509255	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	55	0	ENST00000393677.4:c.576A>T	p.Thr192=	p.T192=	ENST00000393677	NM_144588.6	192	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31262.1	576	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGTCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14543	.	.	ENSP00000348593	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000356257	Transcript	1	.	ENSG00000155256	26559	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZFY27_HUMAN	ZFYVE27	HGNC	.	.	UPI00003FE526	SNV	ZFYVE27,synonymous_variant,p.%3D,ENST00000370613,;ZFYVE27,synonymous_variant,p.%3D,ENST00000423811,;ZFYVE27,synonymous_variant,p.%3D,ENST00000337540,;ZFYVE27,synonymous_variant,p.%3D,ENST00000393677,;ZFYVE27,synonymous_variant,p.%3D,ENST00000359980,;ZFYVE27,synonymous_variant,p.%3D,ENST00000357540,;ZFYVE27,synonymous_variant,p.%3D,ENST00000453958,;ZFYVE27,synonymous_variant,p.%3D,ENST00000370610,;ZFYVE27,synonymous_variant,p.%3D,ENST00000356257,;ZFYVE27,upstream_gene_variant,,ENST00000481956,;	577	55	48	SUCCESS
POU2AF1	5450	.	GRCh37	11	111228301	111228301	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	41	171	0	ENST00000393067.3:c.325G>A	p.Val109Met	p.V109M	ENST00000393067	NM_006235.2	109	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS31675.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACATACT	NONE	.	.	hmmpanther:PTHR15363:SF3,hmmpanther:PTHR15363,Pfam_domain:PF09310	.	.	ENSP00000376786	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000393067	Transcript	.	.	ENSG00000110777	9211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.28)	.	OBF1_HUMAN	POU2AF1	HGNC	.	.	UPI000011D77C	SNV	POU2AF1,missense_variant,p.Val111Met,ENST00000531398,;POU2AF1,missense_variant,p.Val109Met,ENST00000393067,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000525584,;POU2AF1,downstream_gene_variant,,ENST00000530793,;POU2AF1,downstream_gene_variant,,ENST00000525662,;	840	171	121	SUCCESS
DIXDC1	85458	.	GRCh37	11	111859740	111859740	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	46	0	ENST00000440460.2:c.1071G>T	p.Leu357=	p.L357=	ENST00000440460	NM_001037954.3	357	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	.	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGAAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF18	.	.	ENSP00000394352	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000440460	Transcript	.	.	ENSG00000150764	23695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIXDC1	HGNC	J3KQC9_HUMAN	.	UPI00015E0094	SNV	DIXDC1,synonymous_variant,p.%3D,ENST00000440460,;DIXDC1,synonymous_variant,p.%3D,ENST00000315253,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524385,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000530411,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000389821,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524609,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000526500,;DIXDC1,upstream_gene_variant,,ENST00000530645,;	1368	46	38	SUCCESS
AMICA1	0	.	GRCh37	11	118067460	118067460	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	64	0	ENST00000356289.5:c.1082A>G	p.Tyr361Cys	p.Y361C	ENST00000356289	NM_001098526.1	361	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS41723.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGTAGGTG	NONE	.	.	hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF22	.	.	ENSP00000348635	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000356289	Transcript	.	.	ENSG00000160593	19084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JAML1_HUMAN	AMICA1	HGNC	Q496M1_HUMAN,E9PNS8_HUMAN,E9PJJ4_HUMAN	.	UPI000000D82D	SNV	AMICA1,missense_variant,p.Tyr351Cys,ENST00000292067,;AMICA1,missense_variant,p.Tyr350Cys,ENST00000533261,;AMICA1,missense_variant,p.Tyr322Cys,ENST00000526620,;AMICA1,missense_variant,p.Tyr361Cys,ENST00000356289,;AMICA1,3_prime_UTR_variant,,ENST00000526595,;AMICA1,non_coding_transcript_exon_variant,,ENST00000534294,;AMICA1,non_coding_transcript_exon_variant,,ENST00000531530,;AMICA1,downstream_gene_variant,,ENST00000529164,;	1256	64	47	SUCCESS
PANX3	116337	.	GRCh37	11	124489377	124489377	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	98	0	ENST00000284288.2:c.725G>A	p.Cys242Tyr	p.C242Y	ENST00000284288	NM_052959.2	242	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS8447.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGCTCCA	NONE	.	.	Pfam_domain:PF00876,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3,PROSITE_profiles:PS51013	.	.	ENSP00000284288	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284288	Transcript	.	.	ENSG00000154143	20573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PANX3_HUMAN	PANX3	HGNC	.	.	UPI0000131264	SNV	PANX3,missense_variant,p.Cys242Tyr,ENST00000284288,;TBRG1,upstream_gene_variant,,ENST00000531667,;TBRG1,upstream_gene_variant,,ENST00000375005,;TBRG1,upstream_gene_variant,,ENST00000441174,;TBRG1,upstream_gene_variant,,ENST00000529543,;TBRG1,upstream_gene_variant,,ENST00000284290,;TBRG1,upstream_gene_variant,,ENST00000452080,;TBRG1,upstream_gene_variant,,ENST00000530731,;TBRG1,upstream_gene_variant,,ENST00000473629,;	792	98	81	SUCCESS
CHRM1	1128	.	GRCh37	11	62678632	62678632	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	46	0	ENST00000306960.3:c.-60G>A		p.*20*	ENST00000306960	NM_000738.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCTCAGG	NONE	.	.	.	.	.	ENSP00000306490	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306960	Transcript	.	.	ENSG00000168539	1950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM1_HUMAN	CHRM1	HGNC	Q96RH1_HUMAN,Q53XZ3_HUMAN,F5GZF8_HUMAN	.	UPI00001252AB	SNV	CHRM1,5_prime_UTR_variant,,ENST00000536524,;CHRM1,5_prime_UTR_variant,,ENST00000543973,;CHRM1,5_prime_UTR_variant,,ENST00000306960,;AP000438.2,intron_variant,,ENST00000543624,;	483	46	41	SUCCESS
TSGA10IP	254187	.	GRCh37	11	65715207	65715207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	59	0	ENST00000532620.1:n.1142G>C		p.*381*	ENST00000532620				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE	.	CCGAAGGCGAC	BUFFER|p.R275*|c.823C>T|3	.	.	.	.	.	.	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000532620	Transcript	.	.	ENSG00000175513	26555	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TSGA10IP	HGNC	.	.	.	SNV	TSGA10IP,non_coding_transcript_exon_variant,,ENST00000533763,;TSGA10IP,non_coding_transcript_exon_variant,,ENST00000532620,;TSGA10IP,intron_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000528291,;TSGA10IP,downstream_gene_variant,,ENST00000531518,;TSGA10IP,missense_variant,p.Arg304Thr,ENST00000608857,;	1142	60	59	SUCCESS
ZNF140	7699	.	GRCh37	12	133682814	133682814	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	87	0	ENST00000355557.2:c.951T>G	p.Thr317=	p.T317=	ENST00000355557	NM_003440.2	317	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9282.1	951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTCGACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF36,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347755	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355557	Transcript	.	.	ENSG00000196387	12925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN140_HUMAN	ZNF140	HGNC	Q05CP6_HUMAN,I3L0D9_HUMAN,F5H4I1_HUMAN,B4DKI0_HUMAN	.	UPI0000074687	SNV	ZNF140,synonymous_variant,p.%3D,ENST00000544426,;ZNF140,synonymous_variant,p.%3D,ENST00000355557,;ZNF140,3_prime_UTR_variant,,ENST00000440550,;ZNF140,downstream_gene_variant,,ENST00000429434,;ZNF140,downstream_gene_variant,,ENST00000356456,;ZNF140,downstream_gene_variant,,ENST00000412146,;ZNF140,downstream_gene_variant,,ENST00000319849,;ZNF140,3_prime_UTR_variant,,ENST00000536790,;ZNF140,downstream_gene_variant,,ENST00000392041,;	2234	87	90	SUCCESS
DENND5B	160518	.	GRCh37	12	31586180	31586180	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs759799944	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	71	0	ENST00000389082.5:c.2015G>A	p.Arg672His	p.R672H	ENST00000389082	NM_144973.3	672	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS44857.1	2015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGACTG	NONE	byFrequency	.	hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877	.	.	ENSP00000373734	.	8/21	.	.	.	.	.	.	.	.	rs759799944	8/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0.03)	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,missense_variant,p.Arg707His,ENST00000536562,;DENND5B,missense_variant,p.Arg707His,ENST00000306833,;DENND5B,missense_variant,p.Arg672His,ENST00000389082,;DENND5B,missense_variant,p.Arg694His,ENST00000354285,;	2280	71	46	SUCCESS
KRT81	3887	.	GRCh37	12	52681031	52681031	+	synonymous_variant	Silent	SNP	G	G	A	rs773229998	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	87	0	ENST00000327741.5:c.1102C>T	p.Leu368=	p.L368=	ENST00000327741	NM_002281.3	368	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31805.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCTTGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF143,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000369349	.	7/9	.	.	.	.	.	.	.	.	rs773229998,COSM1293471	7/9	PASS	ENST00000327741	Transcript	.	.	ENSG00000205426	6458	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KRT81_HUMAN	KRT81	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000DBEEF8	SNV	KRT81,synonymous_variant,p.%3D,ENST00000327741,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;	1171	87	63	SUCCESS
SMUG1	23583	.	GRCh37	12	54576561	54576561	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	9	0	ENST00000337581.3:c.286-154G>A		p.*96*	ENST00000337581				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8874.1	.	MUTECT|MUSE	.	TGGCCCTATGG	NONE	.	.	.	.	.	ENSP00000424191	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000508394	Transcript	.	.	ENSG00000123415	17148	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMUG1_HUMAN	SMUG1	HGNC	D6RIA4_HUMAN,D6RD88_HUMAN,D6RAS0_HUMAN,D6RA78_HUMAN,D6RA25_HUMAN	.	UPI0000073EC2	SNV	SMUG1,3_prime_UTR_variant,,ENST00000505128,;SMUG1,intron_variant,,ENST00000401977,;SMUG1,intron_variant,,ENST00000508394,;SMUG1,intron_variant,,ENST00000506595,;SMUG1,intron_variant,,ENST00000337581,;SMUG1,intron_variant,,ENST00000507904,;SMUG1,intron_variant,,ENST00000514196,;SMUG1,intron_variant,,ENST00000504338,;SMUG1,intron_variant,,ENST00000243112,;SMUG1,intron_variant,,ENST00000513838,;SMUG1,intron_variant,,ENST00000514685,;SMUG1,downstream_gene_variant,,ENST00000503306,;SMUG1,downstream_gene_variant,,ENST00000504797,;SMUG1,downstream_gene_variant,,ENST00000506169,;SMUG1,intron_variant,,ENST00000505662,;SMUG1,downstream_gene_variant,,ENST00000503231,;SMUG1,downstream_gene_variant,,ENST00000505597,;SMUG1,intron_variant,,ENST00000511522,;SMUG1,intron_variant,,ENST00000509864,;SMUG1,intron_variant,,ENST00000509078,;SMUG1,downstream_gene_variant,,ENST00000503447,;SMUG1,upstream_gene_variant,,ENST00000511854,;	.	9	9	SUCCESS
VAMP1	6843	.	GRCh37	12	6574035	6574035	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	56	0	ENST00000396308.3:c.340+21T>C		p.*114*	ENST00000396308	NM_199245.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41740.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGCAAC	NONE	.	.	.	.	.	ENSP00000379602	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	SNV	VAMP1,3_prime_UTR_variant,,ENST00000361716,;VAMP1,intron_variant,,ENST00000396308,;VAMP1,intron_variant,,ENST00000535180,;VAMP1,intron_variant,,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;TAPBPL,intron_variant,,ENST00000545700,;VAMP1,intron_variant,,ENST00000544432,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;VAMP1,downstream_gene_variant,,ENST00000539047,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,non_coding_transcript_exon_variant,,ENST00000535927,;VAMP1,non_coding_transcript_exon_variant,,ENST00000538970,;	.	56	37	SUCCESS
CAPS2	84698	.	GRCh37	12	75672586	75672586	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	32	0	ENST00000409445.3:c.1670-2559A>G		p.*557*	ENST00000409445	NM_032606.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9008.2	.	MUTECT|MUSE	.	AAATATATTCC	NONE	.	.	.	.	.	ENSP00000386959	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409445	Transcript	.	.	ENSG00000180881	16471	.	.	MODIFIER	17/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,3_prime_UTR_variant,,ENST00000393284,;CAPS2,3_prime_UTR_variant,,ENST00000442339,;CAPS2,intron_variant,,ENST00000409445,;CAPS2,intron_variant,,ENST00000409799,;RP11-560G2.1,intron_variant,,ENST00000549953,;CAPS2,intron_variant,,ENST00000409004,;CAPS2,3_prime_UTR_variant,,ENST00000336815,;CAPS2,3_prime_UTR_variant,,ENST00000328705,;	.	32	17	SUCCESS
NTN4	59277	.	GRCh37	12	96076579	96076579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	66	0	ENST00000343702.4:c.1414T>C	p.Tyr472His	p.Y472H	ENST00000343702	NM_021229.3	472	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS9054.1	1414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATACCAGT	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260	.	.	ENSP00000340998	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000343702	Transcript	.	.	ENSG00000074527	13658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.5)	.	NET4_HUMAN	NTN4	HGNC	F8W0I7_HUMAN	.	UPI0000049824	SNV	NTN4,missense_variant,p.Tyr435His,ENST00000344911,;NTN4,missense_variant,p.Tyr435His,ENST00000538383,;NTN4,missense_variant,p.Tyr472His,ENST00000553059,;NTN4,missense_variant,p.Tyr472His,ENST00000343702,;	1863	66	41	SUCCESS
NTN4	59277	.	GRCh37	12	96076580	96076580	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	65	0	ENST00000343702.4:c.1413G>C	p.Trp471Cys	p.W471C	ENST00000343702	NM_021229.3	471	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS9054.1	1413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATACCAGTC	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260	.	.	ENSP00000340998	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000343702	Transcript	.	.	ENSG00000074527	13658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	tolerated(0.11)	.	NET4_HUMAN	NTN4	HGNC	F8W0I7_HUMAN	.	UPI0000049824	SNV	NTN4,missense_variant,p.Trp434Cys,ENST00000344911,;NTN4,missense_variant,p.Trp434Cys,ENST00000538383,;NTN4,missense_variant,p.Trp471Cys,ENST00000553059,;NTN4,missense_variant,p.Trp471Cys,ENST00000343702,;	1862	65	41	SUCCESS
C12orf55	0	.	GRCh37	12	97133759	97133759	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	77	0	ENST00000524981.4:c.6991A>T	p.Thr2331Ser	p.T2331S	ENST00000524981		2331	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	.	6991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTACACTT	NONE	.	.	.	.	.	ENSP00000431759	.	51/68	.	.	.	.	.	.	.	.	.	51/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Thr2331Ser,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	7014	77	53	SUCCESS
ZC3H13	23091	.	GRCh37	13	46541986	46541986	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780786950	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	50	0	ENST00000242848.4:c.3974G>T	p.Arg1325Leu	p.R1325L	ENST00000242848		1325	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS9400.1	3974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13585:SF2,hmmpanther:PTHR13585	.	.	ENSP00000282007	.	15/17	.	.	.	.	.	.	.	.	rs780786950	15/17	PASS	ENST00000282007	Transcript	.	.	ENSG00000123200	20368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ZC3HD_HUMAN	ZC3H13	HGNC	.	.	UPI0000366969	SNV	ZC3H13,missense_variant,p.Arg1325Leu,ENST00000242848,;ZC3H13,missense_variant,p.Arg1325Leu,ENST00000282007,;ZC3H13,missense_variant,p.Arg281Leu,ENST00000378921,;	4045	50	59	SUCCESS
PPP2R5C	5527	.	GRCh37	14	102285330	102285330	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	71	0	ENST00000334743.5:c.94+8957G>A		p.*32*	ENST00000334743	NM_002719.3	32		0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS53912.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGGAACAA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF028043	.	.	ENSP00000412324	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000422945	Transcript	.	.	ENSG00000078304	9311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.89)	.	2A5G_HUMAN	PPP2R5C	HGNC	H0YJ75_HUMAN	.	UPI0001A7AE62	SNV	PPP2R5C,missense_variant,p.Gly32Glu,ENST00000422945,;PPP2R5C,missense_variant,p.Gly30Glu,ENST00000557268,;PPP2R5C,intron_variant,,ENST00000445439,;PPP2R5C,intron_variant,,ENST00000553890,;PPP2R5C,intron_variant,,ENST00000557095,;PPP2R5C,intron_variant,,ENST00000334743,;PPP2R5C,intron_variant,,ENST00000557621,;PPP2R5C,intron_variant,,ENST00000350249,;PPP2R5C,intron_variant,,ENST00000556946,;PPP2R5C,intron_variant,,ENST00000554442,;PPP2R5C,intron_variant,,ENST00000328724,;PPP2R5C,intron_variant,,ENST00000557714,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000556068,;PPP2R5C,intron_variant,,ENST00000554504,;PPP2R5C,upstream_gene_variant,,ENST00000553842,;PPP2R5C,upstream_gene_variant,,ENST00000556493,;PPP2R5C,intron_variant,,ENST00000553730,;PPP2R5C,intron_variant,,ENST00000556307,;	191	71	66	SUCCESS
CEP170B	283638	.	GRCh37	14	105359964	105359964	+	synonymous_variant	Silent	SNP	C	C	T	rs768674837	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	11	105	0	ENST00000414716.3:c.4143C>T	p.Asp1381=	p.D1381=	ENST00000414716	NM_001112726.2	1381	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS45175.1	4143	MUTECT|MUSE|VARSCANS	.	GAGGACGCCCT	NONE	byFrequency	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18,Pfam_domain:PF15308	.	.	ENSP00000404151	.	15/19	.	.	.	.	.	.	.	.	rs768674837	15/19	PASS	ENST00000414716	Transcript	.	.	ENSG00000099814	20362	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C170B_HUMAN	CEP170B	HGNC	E9PFC1_HUMAN	.	UPI00001FDCF7	SNV	CEP170B,synonymous_variant,p.%3D,ENST00000414716,;CEP170B,synonymous_variant,p.%3D,ENST00000556508,;CEP170B,synonymous_variant,p.%3D,ENST00000418279,;CEP170B,synonymous_variant,p.%3D,ENST00000453495,;CEP170B,upstream_gene_variant,,ENST00000251181,;	4371	105	112	SUCCESS
YLPM1	56252	.	GRCh37	14	75248349	75248357	+	inframe_deletion	In_Frame_Del	DEL	CCTCCAGTG	CCTCCAGTG	-	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	CCTCCAGTG	CCTCCAGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	55	0	ENST00000325680.7:c.1603_1611del	p.Pro535_Val537del	p.P535_V537del	ENST00000325680	NM_019589.2	535	CCTCCAGTG/-	0	.	.	.	.	.	-	PPV/-	protein_coding	YES	CCDS45135.1	1603-1611	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCCCCCTCCAGTGTTGCC	NONE	.	.	hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413,Low_complexity_(Seg):seg	.	.	ENSP00000324463	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000325680	Transcript	.	.	ENSG00000119596	17798	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	YLPM1_HUMAN	YLPM1	HGNC	B4DMQ9_HUMAN	.	UPI00006C1433	deletion	YLPM1,inframe_deletion,p.Pro535_Val537del,ENST00000325680,;YLPM1,inframe_deletion,p.Pro535_Val537del,ENST00000552421,;YLPM1,intron_variant,,ENST00000238571,;YLPM1,inframe_deletion,p.Pro88_Val90del,ENST00000549293,;	1727-1735	55	53	SUCCESS
VIPAS39	63894	.	GRCh37	14	77900204	77900204	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	47	183	0	ENST00000343765.2:c.1160A>G	p.Asp387Gly	p.D387G	ENST00000343765		387	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9862.1	1160	RADIA|MUTECT|MUSE	.	GGGCATCTACA	NONE	.	.	hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6,Pfam_domain:PF09787	.	.	ENSP00000452181	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000553888	Transcript	.	.	ENSG00000151445	20347	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SPE39_HUMAN	VIPAS39	HGNC	Q6IA61_HUMAN,G3V549_HUMAN	.	UPI00000735EF	SNV	VIPAS39,missense_variant,p.Asp338Gly,ENST00000448935,;VIPAS39,missense_variant,p.Asp387Gly,ENST00000343765,;VIPAS39,missense_variant,p.Asp374Gly,ENST00000327028,;VIPAS39,missense_variant,p.Asp413Gly,ENST00000556412,;VIPAS39,missense_variant,p.Asp387Gly,ENST00000553888,;VIPAS39,missense_variant,p.Asp387Gly,ENST00000557658,;VIPAS39,downstream_gene_variant,,ENST00000553691,;VIPAS39,downstream_gene_variant,,ENST00000553576,;	1671	183	163	SUCCESS
VIPAS39	63894	.	GRCh37	14	77900210	77900210	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	48	188	0	ENST00000343765.2:c.1154A>C	p.Asp385Ala	p.D385A	ENST00000343765		385	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS9862.1	1154	RADIA|MUTECT|MUSE	.	CTACATCATTC	NONE	.	.	hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6,Pfam_domain:PF09787	.	.	ENSP00000452181	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000553888	Transcript	.	.	ENSG00000151445	20347	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	SPE39_HUMAN	VIPAS39	HGNC	Q6IA61_HUMAN,G3V549_HUMAN	.	UPI00000735EF	SNV	VIPAS39,missense_variant,p.Asp336Ala,ENST00000448935,;VIPAS39,missense_variant,p.Asp385Ala,ENST00000343765,;VIPAS39,missense_variant,p.Asp372Ala,ENST00000327028,;VIPAS39,missense_variant,p.Asp411Ala,ENST00000556412,;VIPAS39,missense_variant,p.Asp385Ala,ENST00000553888,;VIPAS39,missense_variant,p.Asp385Ala,ENST00000557658,;VIPAS39,downstream_gene_variant,,ENST00000553691,;VIPAS39,downstream_gene_variant,,ENST00000553576,;	1665	188	161	SUCCESS
SLC24A5	283652	.	GRCh37	15	48431227	48431227	+	synonymous_variant	Silent	SNP	C	C	T	rs112771038	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	49	213	0	ENST00000341459.3:c.933C>T	p.Ser311=	p.S311=	ENST00000341459	NM_205850.2	311	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10128.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCCCTTCC	NONE	byCluster	.	TIGRFAM_domain:TIGR00367,hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846,Low_complexity_(Seg):seg	.	.	ENSP00000341550	.	7/9	.	.	.	.	.	.	.	.	rs112771038	7/9	PASS	ENST00000341459	Transcript	1	.	ENSG00000188467	20611	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKX5_HUMAN	SLC24A5	HGNC	.	.	UPI0000242BC9	SNV	SLC24A5,synonymous_variant,p.%3D,ENST00000341459,;SLC24A5,synonymous_variant,p.%3D,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000324324,;MYEF2,downstream_gene_variant,,ENST00000560172,;MYEF2,downstream_gene_variant,,ENST00000558395,;MYEF2,downstream_gene_variant,,ENST00000267836,;MYEF2,downstream_gene_variant,,ENST00000560530,;SLC24A5,downstream_gene_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000559057,;MYEF2,downstream_gene_variant,,ENST00000558289,;	1006	213	160	SUCCESS
UNC13C	440279	.	GRCh37	15	54542554	54542554	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	72	0	ENST00000260323.11:c.3360C>T	p.Gly1120=	p.G1120=	ENST00000260323	NM_001080534.1	1120	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45264.1	3360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCATTGC	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,PROSITE_patterns:PS00479,Pfam_domain:PF00130,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000260323	.	7/32	.	.	.	.	.	.	.	.	.	7/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;	3360	72	70	SUCCESS
ZNF768	79724	.	GRCh37	16	30536644	30536644	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1230317892	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	38	0	ENST00000380412.5:c.817G>A	p.Gly273Ser	p.G273S	ENST00000380412	NM_024671.3	273	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS10681.2	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCCCGCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF208,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000369777	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380412	Transcript	.	.	ENSG00000169957	26273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.264)	.	tolerated_low_confidence(0.81)	.	ZN768_HUMAN	ZNF768	HGNC	H3BS42_HUMAN	.	UPI00001FFEED	SNV	ZNF768,missense_variant,p.Gly242Ser,ENST00000562803,;ZNF768,missense_variant,p.Gly273Ser,ENST00000380412,;ZNF747,downstream_gene_variant,,ENST00000535210,;ITGAL,downstream_gene_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000358164,;ITGAL,downstream_gene_variant,,ENST00000356798,;ZNF747,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	993	38	38	SUCCESS
SMG6	23293	.	GRCh37	17	1968927	1968927	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	50	0	ENST00000263073.6:c.3882C>A	p.His1294Gln	p.H1294Q	ENST00000263073	NM_017575.4	1294	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS11016.1	3882	RADIA|VARSCANS	.	GCCCGGTGGTC	NONE	.	.	hmmpanther:PTHR13548:SF1,hmmpanther:PTHR13548,Gene3D:3.40.50.1010,Pfam_domain:PF13638,SMART_domains:SM00670,Superfamily_domains:SSF88723	.	.	ENSP00000263073	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000263073	Transcript	.	.	ENSG00000070366	17809	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.26)	.	EST1A_HUMAN	SMG6	HGNC	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN	.	UPI00002005C8	SNV	SMG6,missense_variant,p.His386Gln,ENST00000536871,;SMG6,missense_variant,p.His1263Gln,ENST00000544865,;SMG6,missense_variant,p.His1294Gln,ENST00000263073,;SMG6,missense_variant,p.His386Gln,ENST00000354901,;SMG6,downstream_gene_variant,,ENST00000575454,;SMG6,non_coding_transcript_exon_variant,,ENST00000573827,;SMG6,non_coding_transcript_exon_variant,,ENST00000576218,;SMG6,non_coding_transcript_exon_variant,,ENST00000570756,;SMG6,non_coding_transcript_exon_variant,,ENST00000573166,;SMG6,non_coding_transcript_exon_variant,,ENST00000573153,;SMG6,upstream_gene_variant,,ENST00000574501,;	3933	50	36	SUCCESS
ZZEF1	23140	.	GRCh37	17	4016072	4016072	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	57	0	ENST00000381638.2:c.897G>A	p.Arg299=	p.R299=	ENST00000381638	NM_015113.3	299	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS11043.1	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCCTAAG	NONE	.	.	Superfamily_domains:SSF49785,Gene3D:2.60.120.260,Pfam_domain:PF03256,hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3,PROSITE_profiles:PS51284	.	.	ENSP00000371051	.	5/55	.	.	.	.	.	.	.	.	.	5/55	PASS	ENST00000381638	Transcript	.	.	ENSG00000074755	29027	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZZEF1_HUMAN	ZZEF1	HGNC	.	.	UPI00004569F7	SNV	ZZEF1,synonymous_variant,p.%3D,ENST00000381638,;snoU13,upstream_gene_variant,,ENST00000459263,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;	1022	57	39	SUCCESS
SPOP	8405	.	GRCh37	17	47696738	47696738	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	51	1	ENST00000347630.2:c.210A>T	p.Arg70=	p.R70=	ENST00000347630	NM_001007230.1	70	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11551.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACTCGCAA	NONE	.	.	PROSITE_profiles:PS50144,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97,Pfam_domain:PF00917,Gene3D:2.60.210.10,SMART_domains:SM00061,Superfamily_domains:SSF49599	.	.	ENSP00000377004	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000393331	Transcript	.	.	ENSG00000121067	11254	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPOP_HUMAN	SPOP	HGNC	D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN	.	UPI0000003F5C	SNV	SPOP,synonymous_variant,p.%3D,ENST00000514121,;SPOP,synonymous_variant,p.%3D,ENST00000393331,;SPOP,synonymous_variant,p.%3D,ENST00000504102,;SPOP,synonymous_variant,p.%3D,ENST00000509079,;SPOP,synonymous_variant,p.%3D,ENST00000393328,;SPOP,synonymous_variant,p.%3D,ENST00000507970,;SPOP,synonymous_variant,p.%3D,ENST00000347630,;SPOP,synonymous_variant,p.%3D,ENST00000505581,;SPOP,synonymous_variant,p.%3D,ENST00000515508,;SPOP,synonymous_variant,p.%3D,ENST00000503676,;SPOP,downstream_gene_variant,,ENST00000451526,;SPOP,downstream_gene_variant,,ENST00000508805,;SPOP,downstream_gene_variant,,ENST00000510476,;SPOP,non_coding_transcript_exon_variant,,ENST00000513080,;SPOP,downstream_gene_variant,,ENST00000502385,;SPOP,3_prime_UTR_variant,,ENST00000504212,;SPOP,3_prime_UTR_variant,,ENST00000506399,;SPOP,downstream_gene_variant,,ENST00000509765,;SPOP,upstream_gene_variant,,ENST00000509869,;	681	52	42	SUCCESS
AANAT	15	.	GRCh37	17	74465835	74465835	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	59	0	ENST00000392492.3:c.407G>A	p.Gly136Asp	p.G136D	ENST00000392492	NM_001088.2	136	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS54169.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGCCCCA	NONE	.	.	PROSITE_profiles:PS51186,hmmpanther:PTHR10908,hmmpanther:PTHR10908:SF0,Gene3D:3.40.630.30,Pfam_domain:PF00583,Superfamily_domains:SSF55729	.	.	ENSP00000250615	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000250615	Transcript	.	.	ENSG00000129673	19	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	AANAT	HGNC	Q9H3T0_HUMAN,Q9GZS4_HUMAN,J3KMZ5_HUMAN,F1T0I5_HUMAN	.	UPI000153D76E	SNV	AANAT,missense_variant,p.Gly181Asp,ENST00000250615,;AANAT,missense_variant,p.Gly136Asp,ENST00000392492,;RHBDF2,downstream_gene_variant,,ENST00000591885,;AANAT,downstream_gene_variant,,ENST00000585649,;RHBDF2,downstream_gene_variant,,ENST00000389760,;RHBDF2,downstream_gene_variant,,ENST00000591860,;RHBDF2,downstream_gene_variant,,ENST00000313080,;AANAT,3_prime_UTR_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000589582,;	1549	59	44	SUCCESS
C17orf89	0	.	GRCh37	17	79213144	79213144	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	58	0	ENST00000431388.2:c.-20G>A		p.*7*	ENST00000431388	NM_001086521.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45809.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGGGGCT	NONE	.	.	.	.	.	ENSP00000400184	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000431388	Transcript	.	.	ENSG00000224877	33551	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ089_HUMAN	C17orf89	HGNC	.	.	UPI00002017C4	SNV	C17orf89,5_prime_UTR_variant,,ENST00000431388,;ENTHD2,upstream_gene_variant,,ENST00000571094,;ENTHD2,upstream_gene_variant,,ENST00000374769,;ENTHD2,upstream_gene_variant,,ENST00000300714,;C17orf89,upstream_gene_variant,,ENST00000576002,;ENTHD2,upstream_gene_variant,,ENST00000575961,;C17orf89,upstream_gene_variant,,ENST00000573173,;ENTHD2,upstream_gene_variant,,ENST00000575891,;C17orf89,upstream_gene_variant,,ENST00000575067,;C17orf89,5_prime_UTR_variant,,ENST00000577158,;C17orf89,non_coding_transcript_exon_variant,,ENST00000573090,;ENTHD2,upstream_gene_variant,,ENST00000576090,;ENTHD2,upstream_gene_variant,,ENST00000570854,;ENTHD2,upstream_gene_variant,,ENST00000573295,;ENTHD2,upstream_gene_variant,,ENST00000572050,;ENTHD2,upstream_gene_variant,,ENST00000571601,;ENTHD2,upstream_gene_variant,,ENST00000574517,;	106	58	66	SUCCESS
PRODH2	58510	.	GRCh37	19	36291013	36291013	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1178283450	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	67	0	ENST00000301175.3:c.1538G>A	p.Arg513His	p.R513H	ENST00000301175	NM_021232.1	513	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12478.1	1538	MUTECT|MUSE	.	CCCTGCGGGCA	NONE	.	.	hmmpanther:PTHR13914:SF0,hmmpanther:PTHR13914,Gene3D:3.20.20.220,Pfam_domain:PF01619,Superfamily_domains:SSF51730	.	.	ENSP00000301175	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000301175	Transcript	.	.	ENSG00000250799	17325	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	PROD2_HUMAN	PRODH2	HGNC	.	.	UPI000006EE59	SNV	PRODH2,missense_variant,p.Arg513His,ENST00000301175,;PRODH2,3_prime_UTR_variant,,ENST00000588266,;PRODH2,downstream_gene_variant,,ENST00000589835,;AC002398.5,upstream_gene_variant,,ENST00000564335,;AC002398.5,upstream_gene_variant,,ENST00000433059,;AC002398.5,upstream_gene_variant,,ENST00000567313,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587808,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;	1556	67	46	SUCCESS
RTN2	6253	.	GRCh37	19	46000221	46000229	+	5_prime_UTR_variant	5'UTR	DEL	GCCGCCGCC	GCCGCCGCC	-	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	GCCGCCGCC	GCCGCCGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	14	0	ENST00000245923.4:c.-146_-138del		p.*49*	ENST00000245923	NM_005619.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12665.1	.	INDELOCATOR|VARSCANI	.	GCTCCAGCCGCCGCCGCCGC	NONE	.	.	.	.	.	ENSP00000245923	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000245923	Transcript	1	.	ENSG00000125744	10468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTN2_HUMAN	RTN2	HGNC	K7EMR7_HUMAN	.	UPI00001352DC	deletion	RTN2,5_prime_UTR_variant,,ENST00000590526,;RTN2,5_prime_UTR_variant,,ENST00000344680,;RTN2,5_prime_UTR_variant,,ENST00000245923,;PPM1N,intron_variant,,ENST00000401705,;PPM1N,upstream_gene_variant,,ENST00000396735,;PPM1N,upstream_gene_variant,,ENST00000451287,;PPM1N,upstream_gene_variant,,ENST00000396736,;RTN2,upstream_gene_variant,,ENST00000430715,;PPM1N,upstream_gene_variant,,ENST00000456399,;PPM1N,upstream_gene_variant,,ENST00000396737,;PPM1N,upstream_gene_variant,,ENST00000324688,;PPM1N,upstream_gene_variant,,ENST00000401593,;RTN2,upstream_gene_variant,,ENST00000590746,;RTN2,upstream_gene_variant,,ENST00000589384,;RTN2,upstream_gene_variant,,ENST00000588036,;RTN2,5_prime_UTR_variant,,ENST00000587597,;RTN2,5_prime_UTR_variant,,ENST00000591286,;PPM1N,upstream_gene_variant,,ENST00000415077,;RTN2,upstream_gene_variant,,ENST00000592064,;	91-99	14	15	SUCCESS
SIGLEC9	27180	.	GRCh37	19	51630327	51630327	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	58	0	ENST00000250360.3:c.789A>G	p.Pro263=	p.P263=	ENST00000250360	NM_014441.2	263	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS56100.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGAGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000413861	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000440804	Transcript	.	.	ENSG00000129450	10878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SIGLEC9	HGNC	.	.	UPI00017A75A8	SNV	SIGLEC9,synonymous_variant,p.%3D,ENST00000440804,;SIGLEC9,synonymous_variant,p.%3D,ENST00000599948,;SIGLEC9,synonymous_variant,p.%3D,ENST00000250360,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	856	58	44	SUCCESS
ZNF808	388558	.	GRCh37	19	53058362	53058362	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	25	127	0	ENST00000359798.4:c.2193T>A	p.Gly731=	p.G731=	ENST00000359798	NM_001039886.3	731	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46167.1	2193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTGAGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000352846	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359798	Transcript	.	.	ENSG00000198482	33230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,synonymous_variant,p.%3D,ENST00000359798,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,synonymous_variant,p.%3D,ENST00000487863,;	2373	127	90	SUCCESS
NLRP12	91662	.	GRCh37	19	54312856	54312856	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756690369	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	63	0	ENST00000324134.6:c.2057C>A	p.Thr686Lys	p.T686K	ENST00000324134	NM_144687.3	686	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS12864.1	2057	MUTECT|MUSE	.	ACAGCGTGTGC	NONE	.	.	hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	rs756690369	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.137)	.	tolerated(0.92)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Thr686Lys,ENST00000535162,;NLRP12,missense_variant,p.Thr686Lys,ENST00000391775,;NLRP12,missense_variant,p.Thr686Lys,ENST00000354278,;NLRP12,missense_variant,p.Thr686Lys,ENST00000391773,;NLRP12,missense_variant,p.Thr686Lys,ENST00000324134,;NLRP12,missense_variant,p.Thr686Lys,ENST00000391772,;NLRP12,missense_variant,p.Thr686Lys,ENST00000345770,;NLRP12,missense_variant,p.Thr686Lys,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	2226	63	54	SUCCESS
ACAP3	116983	.	GRCh37	1	1229878	1229878	+	synonymous_variant	Silent	SNP	A	A	C	rs540738244	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	20	12	0	ENST00000354700.5:c.2043T>G	p.Leu681=	p.L681=	ENST00000354700	NM_030649.2	681	ctT/ctG	0	.	C:0	.	C:0.0072	.	C	L	protein_coding	YES	CCDS19.2	2043	RADIA|VARSCANS	.	GCAGGAAGGTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR23180:SF230,hmmpanther:PTHR23180,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	C:0.0089	.	ENSP00000346733	C:0	21/24	.	.	.	.	.	.	.	.	rs540738244	21/24	common_in_exac	ENST00000354700	Transcript	.	C:0.0028	ENSG00000131584	16754	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	ACAP3_HUMAN	ACAP3	HGNC	Q8WTZ1_HUMAN,Q8N2W2_HUMAN	.	UPI0000050F41	SNV	ACAP3,synonymous_variant,p.%3D,ENST00000354700,;ACAP3,synonymous_variant,p.%3D,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000338555,;SCNN1D,downstream_gene_variant,,ENST00000325425,;SCNN1D,downstream_gene_variant,,ENST00000379099,;SCNN1D,downstream_gene_variant,,ENST00000400928,;SCNN1D,downstream_gene_variant,,ENST00000379116,;ACAP3,downstream_gene_variant,,ENST00000379037,;ACAP3,non_coding_transcript_exon_variant,,ENST00000467278,;ACAP3,non_coding_transcript_exon_variant,,ENST00000492936,;SCNN1D,downstream_gene_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000476572,;ACAP3,downstream_gene_variant,,ENST00000472541,;ACAP3,downstream_gene_variant,,ENST00000493992,;ACAP3,downstream_gene_variant,,ENST00000470659,;	2246	12	23	SUCCESS
RUSC1-AS1	284618	.	GRCh37	1	155291207	155291207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	rs752922774	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	121	0	ENST00000446880.1:n.129C>G		p.*43*	ENST00000446880				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41410.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGACCTC	NONE	byFrequency	.	.	.	.	ENSP00000357336	.	.	.	.	.	.	.	.	.	.	rs752922774	.	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,intron_variant,,ENST00000368352,;RUSC1,intron_variant,,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000450199,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000543656,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000446880,;RUSC1-AS1,intron_variant,,ENST00000443642,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	.	121	103	SUCCESS
TDRD5	163589	.	GRCh37	1	179632575	179632575	+	synonymous_variant	Silent	SNP	A	A	G	rs147178825	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	118	0	ENST00000294848.8:c.2436A>G	p.Pro812=	p.P812=	ENST00000294848	NM_173533.3	812	ccA/ccG	0	G:0.0002	.	.	.	.	G	P	protein_coding	YES	CCDS55663.1	2598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAGAAGT	NONE	byCluster	.	.	.	G:0	ENSP00000406052	.	16/18	.	.	.	.	.	.	.	.	rs147178825	16/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000417329,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;	2848	118	88	SUCCESS
BRINP3	339479	.	GRCh37	1	190250879	190250879	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	66	217	0	ENST00000367462.3:c.238G>A	p.Glu80Lys	p.E80K	ENST00000367462	NM_199051.1	80	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1373.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTCCCTGA	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000356432	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Glu80Lys,ENST00000367462,;BRINP3,intron_variant,,ENST00000534846,;RP11-547I7.1,intron_variant,,ENST00000452178,;	470	217	177	SUCCESS
CENPF	1063	.	GRCh37	1	214816385	214816385	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	131	0	ENST00000366955.3:c.4704G>T	p.Glu1568Asp	p.E1568D	ENST00000366955	NM_016343.3	1568	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS31023.1	4704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGAAAAT	SITE|p.E1568D|c.4704G>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	12/20	.	.	.	.	.	.	.	.	COSM279812,COSM903763	12/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.024)	.	.	1,1	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Glu1568Asp,ENST00000366955,;	4872	131	118	SUCCESS
OBSCN	84033	.	GRCh37	1	228537683	228537683	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	47	0	ENST00000422127.1:c.18241G>T	p.Asp6081Tyr	p.D6081Y	ENST00000422127	NM_001098623.2	6081	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS59204.1	21112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGACTCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	87/116	.	.	.	.	.	.	.	.	.	87/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Asp3715Tyr,ENST00000366707,;OBSCN,missense_variant,p.Asp3200Tyr,ENST00000366709,;OBSCN,missense_variant,p.Asp6081Tyr,ENST00000284548,;OBSCN,missense_variant,p.Asp698Tyr,ENST00000441106,;OBSCN,missense_variant,p.Asp6081Tyr,ENST00000422127,;OBSCN,missense_variant,p.Asp7038Tyr,ENST00000570156,;OBSCN,upstream_gene_variant,,ENST00000474237,;	21186	47	39	SUCCESS
SMYD3	64754	.	GRCh37	1	245912933	245912933	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	59	0	ENST00000388985.4:c.1219G>A	p.Glu407Lys	p.E407K	ENST00000388985		407	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS53486.1	1219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCTCTGC	NONE	.	.	PROSITE_profiles:PS51574,hmmpanther:PTHR12197:SF146,hmmpanther:PTHR12197	.	.	ENSP00000373637	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000388985	Transcript	.	.	ENSG00000185420	15513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.09)	.	SMYD3_HUMAN	SMYD3	HGNC	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN	.	UPI000022AFDA	SNV	SMYD3,missense_variant,p.Glu407Lys,ENST00000388985,;SMYD3,missense_variant,p.Glu348Lys,ENST00000541742,;SMYD3,missense_variant,p.Glu348Lys,ENST00000490107,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470510,;SMYD3,non_coding_transcript_exon_variant,,ENST00000482592,;SMYD3,non_coding_transcript_exon_variant,,ENST00000490322,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366517,;SMYD3,non_coding_transcript_exon_variant,,ENST00000483072,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366516,;	1219	59	39	SUCCESS
AHCTF1	25909	.	GRCh37	1	247071004	247071004	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	37	193	0	ENST00000326225.3:c.640A>G	p.Met214Val	p.M214V	ENST00000326225	NM_015446.4	214	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS1629.2	640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATTACAC	NONE	.	.	hmmpanther:PTHR21583,Superfamily_domains:SSF50998	.	.	ENSP00000355465	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.07)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Met205Val,ENST00000391829,;AHCTF1,missense_variant,p.Met240Val,ENST00000366508,;AHCTF1,missense_variant,p.Met214Val,ENST00000326225,;	737	193	143	SUCCESS
OR2L8	391190	.	GRCh37	1	248112399	248112399	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	94	0	ENST00000357191.3:c.240G>A	p.Met80Ile	p.M80I	ENST00000357191	NM_001001963.1	80	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS31101.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGGCATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000349719	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357191	Transcript	.	.	ENSG00000196936	15014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0.05)	.	OR2L8_HUMAN	OR2L8	HGNC	.	.	UPI0000061E5D	SNV	OR2L8,missense_variant,p.Met80Ile,ENST00000357191,;OR2L13,intron_variant,,ENST00000366478,;	240	94	42	SUCCESS
ARID1A	8289	.	GRCh37	1	27106462	27106462	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	56	105	0	ENST00000324856.7:c.6073A>G	p.Lys2025Glu	p.K2025E	ENST00000324856	NM_006015.4	2025	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS285.1	6073	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGGAAGCAG	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Lys1808Glu,ENST00000457599,;ARID1A,missense_variant,p.Lys1642Glu,ENST00000374152,;ARID1A,missense_variant,p.Lys922Glu,ENST00000430799,;ARID1A,missense_variant,p.Lys353Glu,ENST00000540690,;ARID1A,missense_variant,p.Lys2025Glu,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6444	106	84	SUCCESS
ARID1A	8289	.	GRCh37	1	27106484	27106484	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	63	127	0	ENST00000324856.7:c.6098del	p.Lys2033ArgfsTer9	p.K2033Rfs*9	ENST00000324856	NM_006015.4	2032	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS285.1	6095	VARSCANI*|PINDEL	.	CTTATGAAAAGG	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Lys1816ArgfsTer9,ENST00000457599,;ARID1A,frameshift_variant,p.Lys1650ArgfsTer9,ENST00000374152,;ARID1A,frameshift_variant,p.Lys930ArgfsTer9,ENST00000430799,;ARID1A,frameshift_variant,p.Lys361ArgfsTer9,ENST00000540690,;ARID1A,frameshift_variant,p.Lys2033ArgfsTer9,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6466	127	165	SUCCESS
TMEM39B	55116	.	GRCh37	1	32540608	32540608	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	38	57	0	ENST00000336294.5:c.61G>T	p.Gly21Ter	p.G21*	ENST00000336294	NM_018056.2	21	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS351.2	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGGGATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF2	.	.	ENSP00000338165	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000336294	Transcript	.	.	ENSG00000121775	25510	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM39B_HUMAN	TMEM39B	HGNC	Q9NW51_HUMAN,Q9BT39_HUMAN,B4DQE6_HUMAN	.	UPI0000037B9F	SNV	TMEM39B,stop_gained,p.Gly21Ter,ENST00000456834,;TMEM39B,stop_gained,p.Gly21Ter,ENST00000438825,;TMEM39B,stop_gained,p.Gly21Ter,ENST00000336294,;TMEM39B,5_prime_UTR_variant,,ENST00000373634,;TMEM39B,5_prime_UTR_variant,,ENST00000427288,;RP11-277A4.4,upstream_gene_variant,,ENST00000366152,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000466321,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,upstream_gene_variant,,ENST00000498613,;TMEM39B,stop_gained,p.Gly21Ter,ENST00000441402,;	207	57	60	SUCCESS
CSMD2	114784	.	GRCh37	1	34238304	34238304	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	rs781533024	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	35	56	0	ENST00000241312.4:c.1592G>A	p.Arg531Gln	p.R531Q	ENST00000241312		531	cGg/cAg	0	.	.	.	.	.	T	R/Q	nonsense_mediated_decay	YES	CCDS380.1	1592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCGGCCA	NONE	byFrequency	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	13/70	.	.	.	.	.	.	.	.	rs781533024,COSM1321131,COSM1321132	13/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.015)	.	tolerated(0.33)	0,1,1	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Arg179Gln,ENST00000338325,;CSMD2,missense_variant,p.Arg571Gln,ENST00000373381,;CSMD2,missense_variant,p.Arg531Gln,ENST00000241312,;	1621	56	45	SUCCESS
JAK1	3716	.	GRCh37	1	65310503	65310503	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	65	118	0	ENST00000342505.4:c.2185A>T	p.Ser729Cys	p.S729C	ENST00000342505	NM_002227.2	729	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS41346.1	2185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACTGTCGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	16/25	.	.	.	.	.	.	.	.	COSM1726762	16/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.708)	.	deleterious(0.02)	1	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Ser729Cys,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000471473,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000481702,;	2434	118	88	SUCCESS
LHX8	431707	.	GRCh37	1	75602886	75602886	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	67	202	0	ENST00000294638.5:c.207T>A	p.Pro69=	p.P69=	ENST00000294638	NM_001001933.1	69	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS30756.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTCCTGG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF9	.	.	ENSP00000294638	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,synonymous_variant,p.%3D,ENST00000356261,;LHX8,synonymous_variant,p.%3D,ENST00000294638,;RP11-510C10.2,upstream_gene_variant,,ENST00000446238,;RP11-510C10.3,upstream_gene_variant,,ENST00000427892,;LHX8,non_coding_transcript_exon_variant,,ENST00000559413,;	871	202	147	SUCCESS
SLC2A10	81031	.	GRCh37	20	45354676	45354676	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770142771	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	33	0	ENST00000359271.2:c.1001A>G	p.Asn334Ser	p.N334S	ENST00000359271	NM_030777.3	334	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS13402.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAATGCCA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF93,hmmpanther:PTHR24063	.	.	ENSP00000352216	.	2/5	.	.	.	.	.	.	.	.	rs770142771	2/5	PASS	ENST00000359271	Transcript	1	.	ENSG00000197496	13444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.16)	.	GTR10_HUMAN	SLC2A10	HGNC	Q8TDC7_HUMAN	.	UPI000012BC8D	SNV	SLC2A10,missense_variant,p.Asn334Ser,ENST00000359271,;	1251	33	32	SUCCESS
NCOA3	8202	.	GRCh37	20	46265302	46265302	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	37	137	0	ENST00000371998.3:c.2172G>T	p.Gln724His	p.Q724H	ENST00000371998		724	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS13407.1	2172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGGAGCA	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Gln734His,ENST00000371997,;NCOA3,missense_variant,p.Gln724His,ENST00000372004,;NCOA3,missense_variant,p.Gln734His,ENST00000341724,;NCOA3,missense_variant,p.Gln724His,ENST00000371998,;	2363	137	123	SUCCESS
NCOA3	8202	.	GRCh37	20	46265303	46265303	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	140	0	ENST00000371998.3:c.2173G>T	p.Glu725Ter	p.E725*	ENST00000371998		725	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13407.1	2173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGAGCAG	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,stop_gained,p.Glu735Ter,ENST00000371997,;NCOA3,stop_gained,p.Glu725Ter,ENST00000372004,;NCOA3,stop_gained,p.Glu735Ter,ENST00000341724,;NCOA3,stop_gained,p.Glu725Ter,ENST00000371998,;	2364	140	122	SUCCESS
CCT8	10694	.	GRCh37	21	30445949	30445949	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs372361967	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	23	0	ENST00000286788.4:c.-38T>C		p.*13*	ENST00000286788	NM_006585.2			0	G:0.0002	.	.	.	.	G	.	protein_coding	YES	CCDS33528.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGAAGACC	NONE	.	.	.	.	G:0.0001	ENSP00000286788	.	1/15	.	.	.	.	.	.	.	.	rs372361967	1/15	PASS	ENST00000286788	Transcript	.	.	ENSG00000156261	1623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPQ_HUMAN	CCT8	HGNC	Q7Z759_HUMAN	.	UPI0000136B0D	SNV	CCT8,5_prime_UTR_variant,,ENST00000286788,;CCT8,5_prime_UTR_variant,,ENST00000540844,;MAP3K7CL,upstream_gene_variant,,ENST00000545939,;CCT8,upstream_gene_variant,,ENST00000431234,;MAP3K7CL,upstream_gene_variant,,ENST00000341618,;MAP3K7CL,upstream_gene_variant,,ENST00000286791,;MAP3K7CL,upstream_gene_variant,,ENST00000399935,;MAP3K7CL,upstream_gene_variant,,ENST00000399934,;MAP3K7CL,upstream_gene_variant,,ENST00000419845,;CCT8,upstream_gene_variant,,ENST00000542732,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;MAP3K7CL,upstream_gene_variant,,ENST00000492930,;MAP3K7CL,upstream_gene_variant,,ENST00000496779,;CCT8,upstream_gene_variant,,ENST00000494296,;CCT8,upstream_gene_variant,,ENST00000481059,;CCT8,upstream_gene_variant,,ENST00000484403,;	170	23	26	SUCCESS
SPATC1L	84221	.	GRCh37	21	47602765	47602765	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	28	0	ENST00000291672.5:c.-35A>C		p.*12*	ENST00000291672	NM_001142854.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46653.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGCAGC	NONE	.	.	.	.	.	ENSP00000291672	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000291672	Transcript	.	.	ENSG00000160284	1298	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPC1L_HUMAN	SPATC1L	HGNC	.	.	UPI000013E06B	SNV	SPATC1L,5_prime_UTR_variant,,ENST00000291672,;SPATC1L,intron_variant,,ENST00000330205,;AP001468.58,upstream_gene_variant,,ENST00000415026,;	1028	29	23	SUCCESS
SEPT5	0	.	GRCh37	22	19707954	19707954	+	synonymous_variant	Silent	SNP	C	C	T	rs1373911185	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	91	0	ENST00000455784.2:c.474C>T	p.Tyr158=	p.Y158=	ENST00000455784	NM_002688.5	158	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS13764.1	474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATACTTCAT	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF006698,Gene3D:3.40.50.300,Pfam_domain:PF00735,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF63,PROSITE_profiles:PS51719	.	.	ENSP00000391311	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000455784	Transcript	.	.	ENSG00000184702	9164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPT5_HUMAN	SEPT5	HGNC	F8W9E5_HUMAN,C9JM82_HUMAN,B4DJ62_HUMAN	.	UPI000000127F	SNV	SEPT5,synonymous_variant,p.%3D,ENST00000431124,;SEPT5,synonymous_variant,p.%3D,ENST00000395109,;SEPT5,synonymous_variant,p.%3D,ENST00000406395,;SEPT5,synonymous_variant,p.%3D,ENST00000438754,;SEPT5,synonymous_variant,p.%3D,ENST00000413258,;SEPT5,synonymous_variant,p.%3D,ENST00000383045,;SEPT5,synonymous_variant,p.%3D,ENST00000412544,;SEPT5,synonymous_variant,p.%3D,ENST00000455784,;GP1BB,upstream_gene_variant,,ENST00000366425,;SEPT5,downstream_gene_variant,,ENST00000490204,;SEPT5,synonymous_variant,p.%3D,ENST00000455843,;SEPT5,synonymous_variant,p.%3D,ENST00000406172,;SEPT5,synonymous_variant,p.%3D,ENST00000431044,;SEPT5,non_coding_transcript_exon_variant,,ENST00000480423,;SEPT5,upstream_gene_variant,,ENST00000470814,;SEPT5,downstream_gene_variant,,ENST00000477238,;	599	91	73	SUCCESS
ZNF280B	140883	.	GRCh37	22	22842882	22842882	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	91	0	ENST00000360412.2:c.842C>T	p.Pro281Leu	p.P281L	ENST00000360412	NM_080764.2	281	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13799.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGGATTT	NONE	.	.	hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,missense_variant,p.Pro281Leu,ENST00000406426,;ZNF280B,missense_variant,p.Pro281Leu,ENST00000360412,;	1618	91	65	SUCCESS
XPNPEP3	63929	.	GRCh37	22	41253173	41253173	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	39	0	ENST00000357137.4:c.-13G>T		p.*5*	ENST00000357137	NM_022098.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTGAGTTA	NONE	.	.	.	.	.	ENSP00000349658	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000357137	Transcript	.	.	ENSG00000196236	28052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPP3_HUMAN	XPNPEP3	HGNC	B7ZBB4_HUMAN	.	UPI00000401E0	SNV	XPNPEP3,5_prime_UTR_variant,,ENST00000357137,;XPNPEP3,5_prime_UTR_variant,,ENST00000414396,;XPNPEP3,5_prime_UTR_variant,,ENST00000541156,;ST13,upstream_gene_variant,,ENST00000411695,;DNAJB7,downstream_gene_variant,,ENST00000307221,;ST13,upstream_gene_variant,,ENST00000216218,;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000482652,;XPNPEP3,5_prime_UTR_variant,,ENST00000428799,;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000417688,;ST13,upstream_gene_variant,,ENST00000455824,;	72	39	54	SUCCESS
MPPED1	758	.	GRCh37	22	43870642	43870642	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	51	0	ENST00000417669.2:c.433G>C	p.Val145Leu	p.V145L	ENST00000417669		145	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS46723.1	433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGTGATC	NONE	.	.	hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,Superfamily_domains:SSF56300	.	.	ENSP00000388137	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000417669	Transcript	.	.	ENSG00000186732	1306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	MPPD1_HUMAN	MPPED1	HGNC	Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN	.	UPI000006DF41	SNV	MPPED1,missense_variant,p.Val145Leu,ENST00000542779,;MPPED1,missense_variant,p.Val145Leu,ENST00000443721,;MPPED1,missense_variant,p.Val178Leu,ENST00000538182,;MPPED1,missense_variant,p.Val145Leu,ENST00000417669,;MPPED1,missense_variant,p.Val39Leu,ENST00000414469,;MPPED1,5_prime_UTR_variant,,ENST00000439548,;	877	51	46	SUCCESS
MAP4K4	9448	.	GRCh37	2	102477449	102477449	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	35	0	ENST00000347699.4:c.1866+1G>T		p.X622_splice	ENST00000347699	NM_145687.3	622		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGTAGCG	NONE	.	.	.	.	.	ENSP00000314363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000347699	Transcript	.	.	ENSG00000071054	6866	.	.	HIGH	16/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4K4_HUMAN	MAP4K4	HGNC	Q53TW0_HUMAN,E7ETN6_HUMAN	.	UPI00000747E2	SNV	MAP4K4,splice_donor_variant,,ENST00000347699,;MAP4K4,splice_donor_variant,,ENST00000425019,;MAP4K4,splice_donor_variant,,ENST00000421882,;MAP4K4,splice_donor_variant,,ENST00000324219,;MAP4K4,splice_donor_variant,,ENST00000417294,;MAP4K4,intron_variant,,ENST00000456652,;MAP4K4,intron_variant,,ENST00000302217,;MAP4K4,intron_variant,,ENST00000350198,;MAP4K4,intron_variant,,ENST00000413150,;MAP4K4,intron_variant,,ENST00000350878,;MAP4K4,intron_variant,,ENST00000418101,;MAP4K4,non_coding_transcript_exon_variant,,ENST00000476609,;	.	35	28	SUCCESS
PRPF40A	55660	.	GRCh37	2	153526802	153526802	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	82	0	ENST00000410080.1:c.1573G>T	p.Glu525Ter	p.E525*	ENST00000410080	NM_017892.3	525	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS46430.1	1573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCAGACC	NONE	.	.	PROSITE_profiles:PS51676,hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864,Gene3D:1uzcA00,Pfam_domain:PF01846,SMART_domains:SM00441,Superfamily_domains:SSF81698	.	.	ENSP00000386458	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000410080	Transcript	.	.	ENSG00000196504	16463	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PR40A_HUMAN	PRPF40A	HGNC	Q4ZG51_HUMAN	.	UPI00015743D9	SNV	PRPF40A,stop_gained,p.Glu525Ter,ENST00000410080,;PRPF40A,downstream_gene_variant,,ENST00000545856,;PRPF40A,downstream_gene_variant,,ENST00000354363,;	2115	82	76	SUCCESS
GRB14	2888	.	GRCh37	2	165381556	165381556	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	209	90	400	0	ENST00000263915.3:c.636A>T	p.Ala212=	p.A212=	ENST00000263915	NM_004490.2	212	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2222.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTTGCAAA	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF22	.	.	ENSP00000263915	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000263915	Transcript	.	.	ENSG00000115290	4565	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRB14_HUMAN	GRB14	HGNC	Q53QQ0_HUMAN,Q53QM9_HUMAN	.	UPI000013D489	SNV	GRB14,synonymous_variant,p.%3D,ENST00000446413,;GRB14,synonymous_variant,p.%3D,ENST00000263915,;GRB14,synonymous_variant,p.%3D,ENST00000424693,;GRB14,synonymous_variant,p.%3D,ENST00000543549,;GRB14,non_coding_transcript_exon_variant,,ENST00000488342,;GRB14,non_coding_transcript_exon_variant,,ENST00000469573,;	1175	400	299	SUCCESS
COL3A1	1281	.	GRCh37	2	189859318	189859318	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1186071837	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	59	197	0	ENST00000304636.3:c.1345C>T	p.Arg449Cys	p.R449C	ENST00000304636	NM_000090.3	449	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2297.1	1345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAACGCGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	19/51	.	.	.	.	.	.	.	.	COSM39625,COSM4089611	19/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	.	1,1	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Arg449Cys,ENST00000317840,;COL3A1,missense_variant,p.Arg449Cys,ENST00000304636,;COL3A1,downstream_gene_variant,,ENST00000450867,;	1515	197	170	SUCCESS
NAB1	4664	.	GRCh37	2	191548503	191548503	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	58	0	ENST00000337386.5:c.1045T>C	p.Phe349Leu	p.F349L	ENST00000337386	NM_005966.3	349	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2307.1	1045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTTCCAG	NONE	.	.	hmmpanther:PTHR12623:SF9,hmmpanther:PTHR12623,Pfam_domain:PF04902	.	.	ENSP00000336894	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000337386	Transcript	.	.	ENSG00000138386	7626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.71)	.	NAB1_HUMAN	NAB1	HGNC	C9JL92_HUMAN,C9JJ42_HUMAN,C9JID4_HUMAN,C9JFF6_HUMAN,C9J3V0_HUMAN	.	UPI0000001C43	SNV	NAB1,missense_variant,p.Phe349Leu,ENST00000409581,;NAB1,missense_variant,p.Phe349Leu,ENST00000337386,;NAB1,missense_variant,p.Phe349Leu,ENST00000409641,;NAB1,intron_variant,,ENST00000545490,;NAB1,intron_variant,,ENST00000434473,;NAB1,intron_variant,,ENST00000357215,;AC006460.2,intron_variant,,ENST00000411949,;AC006460.2,intron_variant,,ENST00000421437,;AC006460.2,intron_variant,,ENST00000428032,;NAB1,non_coding_transcript_exon_variant,,ENST00000484774,;	1506	58	41	SUCCESS
CAPN13	92291	.	GRCh37	2	31010218	31010218	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	54	0	ENST00000295055.8:c.-27G>A		p.*9*	ENST00000295055	NM_144575.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46252.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCCTTTC	NONE	.	.	.	.	.	ENSP00000295055	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,5_prime_UTR_variant,,ENST00000534090,;CAPN13,5_prime_UTR_variant,,ENST00000295055,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,5_prime_UTR_variant,,ENST00000485248,;CAPN13,5_prime_UTR_variant,,ENST00000458085,;	151	54	54	SUCCESS
CCDC142	84865	.	GRCh37	2	74709806	74709806	+	synonymous_variant	Silent	SNP	C	C	T	rs1231626111	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	81	0	ENST00000393965.3:c.159G>A	p.Gly53=	p.G53=	ENST00000393965	NM_032779.3	53	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1945.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTCCCTCC	NONE	.	.	hmmpanther:PTHR21436,hmmpanther:PTHR21436:SF1	.	.	ENSP00000290418	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000290418	Transcript	.	.	ENSG00000135637	25889	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC142_HUMAN	CCDC142	HGNC	.	.	UPI000013CFB5	SNV	CCDC142,synonymous_variant,p.%3D,ENST00000393965,;CCDC142,synonymous_variant,p.%3D,ENST00000290418,;TTC31,upstream_gene_variant,,ENST00000442235,;TTC31,upstream_gene_variant,,ENST00000410003,;TTC31,upstream_gene_variant,,ENST00000233623,;CCDC142,intron_variant,,ENST00000471713,;CCDC142,intron_variant,,ENST00000474681,;TTC31,upstream_gene_variant,,ENST00000463189,;TTC31,upstream_gene_variant,,ENST00000463704,;CCDC142,upstream_gene_variant,,ENST00000454193,;TTC31,upstream_gene_variant,,ENST00000459957,;CCDC142,upstream_gene_variant,,ENST00000472962,;TTC31,upstream_gene_variant,,ENST00000464241,;TTC31,upstream_gene_variant,,ENST00000491252,;CCDC142,upstream_gene_variant,,ENST00000497232,;TTC31,upstream_gene_variant,,ENST00000489152,;TTC31,upstream_gene_variant,,ENST00000424122,;TTC31,upstream_gene_variant,,ENST00000449459,;	318	81	55	SUCCESS
ATG3	64422	.	GRCh37	3	112255315	112255315	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs762550270	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	80	0	ENST00000283290.5:c.794+7A>G		p.X265_splice	ENST00000283290	NM_022488.4	265		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2966.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATATACAGA	NONE	.	.	.	.	.	ENSP00000283290	.	.	.	.	.	.	.	.	.	.	rs762550270	.	PASS	ENST00000283290	Transcript	.	.	ENSG00000144848	20962	.	.	LOW	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG3_HUMAN	ATG3	HGNC	C9JNW8_HUMAN	.	UPI0000073DB4	SNV	ATG3,splice_region_variant,,ENST00000402314,;ATG3,splice_region_variant,,ENST00000283290,;ATG3,downstream_gene_variant,,ENST00000492886,;ATG3,non_coding_transcript_exon_variant,,ENST00000495756,;ATG3,non_coding_transcript_exon_variant,,ENST00000494571,;ATG3,downstream_gene_variant,,ENST00000496423,;ATG3,downstream_gene_variant,,ENST00000467275,;	.	80	60	SUCCESS
ETV5	2119	.	GRCh37	3	185797732	185797732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	50	0	ENST00000306376.5:c.524C>T	p.Ala175Val	p.A175V	ENST00000306376	NM_004454.2	175	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33906.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGCGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF166,Pfam_domain:PF04621	.	.	ENSP00000306894	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000306376	Transcript	.	.	ENSG00000244405	3494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.24)	.	ETV5_HUMAN	ETV5	HGNC	C9JMF0_HUMAN,C9J5A5_HUMAN,C9J0Z2_HUMAN	.	UPI000012A175	SNV	ETV5,missense_variant,p.Ala175Val,ENST00000434744,;ETV5,missense_variant,p.Ala217Val,ENST00000537818,;ETV5,missense_variant,p.Ala175Val,ENST00000306376,;ETV5,downstream_gene_variant,,ENST00000413301,;ETV5,downstream_gene_variant,,ENST00000421809,;ETV5,downstream_gene_variant,,ENST00000422039,;ETV5,downstream_gene_variant,,ENST00000440773,;ETV5-AS1,intron_variant,,ENST00000453370,;ETV5,intron_variant,,ENST00000472868,;ETV5,upstream_gene_variant,,ENST00000484223,;ETV5,upstream_gene_variant,,ENST00000489830,;	771	50	40	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913400	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	128	0	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33C|c.98C>G|191,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	128	88	SUCCESS
ALS2CL	259173	.	GRCh37	3	46722032	46722032	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	19	0	ENST00000318962.4:c.1437-1G>T		p.X479_splice	ENST00000318962	NM_147129.3	479		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2743.1	.	RADIA|MUTECT|MUSE	.	CACCTCTGGAA	NONE	.	.	.	.	.	ENSP00000313670	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318962	Transcript	.	.	ENSG00000178038	20605	.	.	HIGH	13/25	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AL2CL_HUMAN	ALS2CL	HGNC	G3V0I7_HUMAN	.	UPI00001B5641	SNV	ALS2CL,splice_acceptor_variant,,ENST00000318962,;ALS2CL,splice_acceptor_variant,,ENST00000415953,;ALS2CL,upstream_gene_variant,,ENST00000383742,;ALS2CL,splice_acceptor_variant,,ENST00000423707,;ALS2CL,splice_acceptor_variant,,ENST00000434140,;ALS2CL,3_prime_UTR_variant,,ENST00000450172,;ALS2CL,3_prime_UTR_variant,,ENST00000431015,;ALS2CL,upstream_gene_variant,,ENST00000486301,;	.	19	11	SUCCESS
CCDC66	285331	.	GRCh37	3	56627035	56627035	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	152	0	ENST00000394672.3:c.974A>C	p.Lys325Thr	p.K325T	ENST00000394672	NM_001141947.1	325	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS46852.1	974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAAACAAG	NONE	.	.	hmmpanther:PTHR22736:SF1,hmmpanther:PTHR22736	.	.	ENSP00000378167	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000394672	Transcript	.	.	ENSG00000180376	27709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.56)	.	deleterious(0)	.	CCD66_HUMAN	CCDC66	HGNC	F8WCY0_HUMAN	.	UPI000020ADBC	SNV	CCDC66,missense_variant,p.Lys325Thr,ENST00000394672,;CCDC66,missense_variant,p.Lys291Thr,ENST00000326595,;CCDC66,missense_variant,p.Lys325Thr,ENST00000436465,;CCDC66,intron_variant,,ENST00000422222,;CCDC66,non_coding_transcript_exon_variant,,ENST00000484623,;CCDC66,3_prime_UTR_variant,,ENST00000471681,;CCDC66,3_prime_UTR_variant,,ENST00000341455,;CCDC66,non_coding_transcript_exon_variant,,ENST00000494672,;CCDC66,upstream_gene_variant,,ENST00000468108,;	1044	152	121	SUCCESS
GYPA	2993	.	GRCh37	4	145035877	145035877	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	98	0	ENST00000360771.4:c.401A>T	p.Asp134Val	p.D134V	ENST00000360771	NM_002099.6	134	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS34069.1	401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTCTGTG	NONE	.	.	hmmpanther:PTHR13813:SF0,hmmpanther:PTHR13813,Pfam_domain:PF01102,PIRSF_domain:PIRSF002466	.	.	ENSP00000354003	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000360771	Transcript	1	.	ENSG00000170180	4702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	deleterious(0.01)	.	GLPA_HUMAN	GYPA	HGNC	Q9UE44_HUMAN,Q14438_HUMAN	.	UPI000016A9B9	SNV	GYPA,missense_variant,p.Asp69Val,ENST00000512789,;GYPA,missense_variant,p.Asp108Val,ENST00000535709,;GYPA,missense_variant,p.Asp102Val,ENST00000504786,;GYPA,missense_variant,p.Asp89Val,ENST00000503627,;GYPA,missense_variant,p.Asp121Val,ENST00000512064,;GYPA,missense_variant,p.Asp134Val,ENST00000360771,;GYPA,missense_variant,p.Asp101Val,ENST00000324022,;GYPB,intron_variant,,ENST00000283126,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPA,3_prime_UTR_variant,,ENST00000508337,;GYPA,non_coding_transcript_exon_variant,,ENST00000510771,;GYPA,downstream_gene_variant,,ENST00000509346,;GYPA,downstream_gene_variant,,ENST00000514603,;	517	98	60	SUCCESS
FAM200B	285550	.	GRCh37	4	15688426	15688426	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	52	0	ENST00000422728.2:c.-175A>C		p.*59*	ENST00000422728	NM_001145191.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47028.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAAGTTTT	NONE	.	.	.	.	.	ENSP00000393017	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000422728	Transcript	.	.	ENSG00000237765	27740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F200B_HUMAN	FAM200B	HGNC	D6RAC6_HUMAN	.	UPI0000160C4C	SNV	FAM200B,5_prime_UTR_variant,,ENST00000503617,;FAM200B,5_prime_UTR_variant,,ENST00000422728,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504137,;FAM200B,intron_variant,,ENST00000515697,;FAM200B,intron_variant,,ENST00000504598,;FAM200B,intron_variant,,ENST00000504823,;FAM200B,intron_variant,,ENST00000515430,;FAM200B,intron_variant,,ENST00000506610,;FAM200B,intron_variant,,ENST00000505260,;FAM200B,intron_variant,,ENST00000502856,;FAM200B,intron_variant,,ENST00000510186,;FAM200B,intron_variant,,ENST00000507305,;FAM200B,intron_variant,,ENST00000513053,;FAM200B,intron_variant,,ENST00000508567,;FAM200B,intron_variant,,ENST00000512855,;FAM200B,intron_variant,,ENST00000510920,;FAM200B,intron_variant,,ENST00000503600,;FAM200B,downstream_gene_variant,,ENST00000502502,;FAM200B,downstream_gene_variant,,ENST00000509022,;FAM200B,downstream_gene_variant,,ENST00000514803,;FAM200B,downstream_gene_variant,,ENST00000510032,;FAM200B,downstream_gene_variant,,ENST00000507992,;	664	52	46	SUCCESS
RXFP1	59350	.	GRCh37	4	159568206	159568206	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	75	0	ENST00000307765.5:c.1609A>G	p.Ile537Val	p.I537V	ENST00000307765	NM_001253728.1	537	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43276.1	1609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGATTACT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000303248	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000307765	Transcript	.	.	ENSG00000171509	19718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.32)	.	RXFP1_HUMAN	RXFP1	HGNC	Q4W5D9_HUMAN,E9PCA3_HUMAN	.	UPI000013EC4B	SNV	RXFP1,missense_variant,p.Ile432Val,ENST00000448688,;RXFP1,missense_variant,p.Ile504Val,ENST00000470033,;RXFP1,missense_variant,p.Ile537Val,ENST00000307765,;RXFP1,missense_variant,p.Ile456Val,ENST00000460056,;RXFP1,missense_variant,p.Ile489Val,ENST00000343542,;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,downstream_gene_variant,,ENST00000471616,;	1860	75	66	SUCCESS
SLC34A2	10568	.	GRCh37	4	25676185	25676185	+	synonymous_variant	Silent	SNP	C	C	G	rs758108666	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	146	0	ENST00000382051.3:c.1392C>G	p.Gly464=	p.G464=	ENST00000382051	NM_006424.2	464	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS3435.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGGCACCAC	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23	.	.	ENSP00000371483	.	12/13	.	.	.	.	.	.	.	.	rs758108666	12/13	PASS	ENST00000382051	Transcript	1	.	ENSG00000157765	11020	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT2B_HUMAN	SLC34A2	HGNC	D6RBC0_HUMAN	.	UPI000013DF24	SNV	SLC34A2,synonymous_variant,p.%3D,ENST00000503434,;SLC34A2,synonymous_variant,p.%3D,ENST00000382051,;SLC34A2,synonymous_variant,p.%3D,ENST00000504570,;SLC34A2,downstream_gene_variant,,ENST00000510033,;RP11-302F12.1,upstream_gene_variant,,ENST00000496507,;	1442	146	105	SUCCESS
PHOX2B	8929	.	GRCh37	4	41750825	41750825	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	17	0	ENST00000226382.2:c.-198T>C		p.*66*	ENST00000226382	NM_003924.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3463.1	.	MUTECT|MUSE	.	TCCTCATAATA	NONE	.	.	.	.	.	ENSP00000226382	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000226382	Transcript	1	.	ENSG00000109132	9143	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHX2B_HUMAN	PHOX2B	HGNC	.	.	UPI000000D936	SNV	PHOX2B,5_prime_UTR_variant,,ENST00000226382,;PHOX2B,upstream_gene_variant,,ENST00000510424,;RP11-227F19.2,upstream_gene_variant,,ENST00000510602,;RP11-227F19.1,intron_variant,,ENST00000508038,;	163	17	9	SUCCESS
ZNF608	57507	.	GRCh37	5	123980027	123980027	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	100	0	ENST00000306315.5:c.4033T>A	p.Tyr1345Asn	p.Y1345N	ENST00000306315	NM_020747.2	1345	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS34219.1	4033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTACTGTA	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,missense_variant,p.Tyr1345Asn,ENST00000306315,;ZNF608,missense_variant,p.Tyr918Asn,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,non_coding_transcript_exon_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,3_prime_UTR_variant,,ENST00000505686,;	4469	100	101	SUCCESS
ZNF608	57507	.	GRCh37	5	123980028	123980028	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1482565737	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	101	0	ENST00000306315.5:c.4032G>T	p.Gln1344His	p.Q1344H	ENST00000306315	NM_020747.2	1344	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS34219.1	4032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTACTGTAT	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.06)	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,missense_variant,p.Gln1344His,ENST00000306315,;ZNF608,missense_variant,p.Gln917His,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,non_coding_transcript_exon_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,3_prime_UTR_variant,,ENST00000505686,;	4468	101	103	SUCCESS
PCDHGB3	56102	.	GRCh37	5	140750610	140750610	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	88	0	ENST00000576222.1:c.649G>A	p.Gly217Arg	p.G217R	ENST00000576222	NM_018924.2	217	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS58980.1	649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGGGGGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000461862	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000576222	Transcript	.	.	ENSG00000262209	8710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.01)	.	PCDGF_HUMAN	PCDHGB3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FA6F	SNV	PCDHGB3,missense_variant,p.Gly217Arg,ENST00000576222,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA6,upstream_gene_variant,,ENST00000517434,;	780	88	90	SUCCESS
LCP2	3937	.	GRCh37	5	169694121	169694121	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	64	0	ENST00000046794.5:c.622-42G>T		p.*208*	ENST00000046794	NM_005565.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47339.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCAGCAA	NONE	.	.	.	.	.	ENSP00000046794	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODIFIER	8/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,5_prime_UTR_variant,,ENST00000521416,;LCP2,5_prime_UTR_variant,,ENST00000520344,;LCP2,intron_variant,,ENST00000046794,;LCP2,downstream_gene_variant,,ENST00000519594,;	.	64	62	SUCCESS
PRDM9	56979	.	GRCh37	5	23522916	23522916	+	synonymous_variant	Silent	SNP	G	G	T	rs569308746	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	88	0	ENST00000296682.3:c.804G>T	p.Pro268=	p.P268=	ENST00000296682	NM_020227.2	268	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43307.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGCTGGG	NONE	.	.	Superfamily_domains:SSF82199,Gene3D:2.170.270.10,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50280	.	.	ENSP00000296682	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,synonymous_variant,p.%3D,ENST00000296682,;	986	89	59	SUCCESS
RASA1	5921	.	GRCh37	5	86565059	86565059	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	22	0	ENST00000274376.6:c.539+252T>C		p.*180*	ENST00000274376	NM_002890.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTGTATC	NONE	.	.	.	.	.	ENSP00000274376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	MODIFIER	1/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,5_prime_UTR_variant,,ENST00000512763,;RASA1,intron_variant,,ENST00000456692,;RASA1,intron_variant,,ENST00000274376,;RASA1,intron_variant,,ENST00000506290,;RASA1,intron_variant,,ENST00000515800,;	.	22	37	SUCCESS
VGLL2	245806	.	GRCh37	6	117589350	117589350	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	52	184	0	ENST00000326274.5:c.87A>C	p.Leu29=	p.L29=	ENST00000326274	NM_182645.3	29	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS5115.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTAGCCTA	NONE	.	.	hmmpanther:PTHR15950:SF17,hmmpanther:PTHR15950	.	.	ENSP00000320957	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000326274	Transcript	.	.	ENSG00000170162	20232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLL2_HUMAN	VGLL2	HGNC	.	.	UPI000006FF57	SNV	VGLL2,synonymous_variant,p.%3D,ENST00000352536,;VGLL2,synonymous_variant,p.%3D,ENST00000326274,;	277	184	151	SUCCESS
HSF2	3298	.	GRCh37	6	122749064	122749064	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	51	199	0	ENST00000368455.4:c.1193T>C	p.Val398Ala	p.V398A	ENST00000368455	NM_004506.3	398	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS5124.1	1193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTGCAGA	NONE	.	.	hmmpanther:PTHR10015:SF144,hmmpanther:PTHR10015,Pfam_domain:PF06546	.	.	ENSP00000357440	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000368455	Transcript	.	.	ENSG00000025156	5225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	tolerated(0.1)	.	HSF2_HUMAN	HSF2	HGNC	.	.	UPI000012CCE8	SNV	HSF2,missense_variant,p.Val398Ala,ENST00000368455,;HSF2,intron_variant,,ENST00000452194,;HSF2,intron_variant,,ENST00000465214,;	1385	199	146	SUCCESS
GPLD1	2822	.	GRCh37	6	24429303	24429303	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758804691	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	61	0	ENST00000230036.1:c.2480G>A	p.Arg827Gln	p.R827Q	ENST00000230036	NM_001503.3	827	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS4553.1	2480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTCGGGCT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23221:SF7,hmmpanther:PTHR23221	.	.	ENSP00000230036	.	25/25	.	.	.	.	.	.	.	.	rs758804691	25/25	PASS	ENST00000230036	Transcript	.	.	ENSG00000112293	4459	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.774)	.	deleterious(0.02)	.	PHLD_HUMAN	GPLD1	HGNC	.	.	UPI000013C91C	SNV	GPLD1,missense_variant,p.Arg827Gln,ENST00000230036,;MRS2,downstream_gene_variant,,ENST00000378386,;MRS2,downstream_gene_variant,,ENST00000274747,;GPLD1,non_coding_transcript_exon_variant,,ENST00000492917,;	2591	61	56	SUCCESS
HIST1H2AG	0	.	GRCh37	6	27101233	27101233	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	41	189	0	ENST00000359193.2:c.383A>T	p.Lys128Met	p.K128M	ENST00000359193	NM_021064.4	128	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS4619.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAAGGGCA	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Superfamily_domains:SSF47113	.	.	ENSP00000352119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359193	Transcript	.	.	ENSG00000196787	4737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	deleterious_low_confidence(0)	.	H2A1_HUMAN	HIST1H2AG	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AG,missense_variant,p.Lys128Met,ENST00000359193,;HIST1H2BJ,upstream_gene_variant,,ENST00000541790,;HIST1H2BJ,upstream_gene_variant,,ENST00000339812,;HIST1H2BJ,upstream_gene_variant,,ENST00000607124,;HIST1H2BK,downstream_gene_variant,,ENST00000396891,;HIST1H2BJ,upstream_gene_variant,,ENST00000606923,;	402	189	127	SUCCESS
NRM	11270	.	GRCh37	6	30656498	30656498	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	104	0	ENST00000259953.4:c.729G>T	p.Arg243=	p.R243=	ENST00000259953	NM_007243.2	243	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4686.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCCGGAG	NONE	.	.	hmmpanther:PTHR31040	.	.	ENSP00000259953	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000259953	Transcript	.	.	ENSG00000137404	8003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRM_HUMAN	NRM	HGNC	B4DP16_HUMAN	.	UPI0000049DF1	SNV	NRM,synonymous_variant,p.%3D,ENST00000376420,;NRM,synonymous_variant,p.%3D,ENST00000376421,;NRM,synonymous_variant,p.%3D,ENST00000444096,;NRM,synonymous_variant,p.%3D,ENST00000259953,;PPP1R18,upstream_gene_variant,,ENST00000399199,;PPP1R18,upstream_gene_variant,,ENST00000274853,;NRM,non_coding_transcript_exon_variant,,ENST00000462857,;NRM,non_coding_transcript_exon_variant,,ENST00000482141,;NRM,non_coding_transcript_exon_variant,,ENST00000474864,;NRM,non_coding_transcript_exon_variant,,ENST00000470733,;NRM,non_coding_transcript_exon_variant,,ENST00000495946,;PPP1R18,upstream_gene_variant,,ENST00000467662,;PPP1R18,upstream_gene_variant,,ENST00000488324,;	1081	104	76	SUCCESS
TNXB	7148	.	GRCh37	6	32036842	32036842	+	synonymous_variant	Silent	SNP	A	A	G	rs763294732	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	68	0	ENST00000375244.3:c.5659T>C	p.Leu1887=	p.L1887=	ENST00000375244		1887	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	.	.	5659	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAACTCCC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	16/44	.	.	.	.	.	.	.	.	rs763294732	16/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,synonymous_variant,p.%3D,ENST00000375247,;TNXB,synonymous_variant,p.%3D,ENST00000375244,;	5861	68	58	SUCCESS
PXT1	222659	.	GRCh37	6	36359627	36359627	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760932663	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	79	0	ENST00000454782.2:c.325G>A	p.Ala109Thr	p.A109T	ENST00000454782	NM_152990.3	109	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4820.2	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGCATCTC	NONE	.	.	Pfam_domain:PF15214	.	.	ENSP00000419944	.	5/5	.	.	.	.	.	.	.	.	rs760932663	5/5	PASS	ENST00000454782	Transcript	.	.	ENSG00000179165	18312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.12)	.	PXT1_HUMAN	PXT1	HGNC	J3KR74_HUMAN	.	UPI0000EE4DF4	SNV	PXT1,missense_variant,p.Ala109Thr,ENST00000454782,;ETV7,upstream_gene_variant,,ENST00000538992,;ETV7,upstream_gene_variant,,ENST00000340181,;ETV7,upstream_gene_variant,,ENST00000339796,;ETV7,upstream_gene_variant,,ENST00000373738,;ETV7,upstream_gene_variant,,ENST00000373737,;RP1-50J22.4,non_coding_transcript_exon_variant,,ENST00000411643,;	809	79	69	SUCCESS
CRISP1	167	.	GRCh37	6	49814359	49814359	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	68	0	ENST00000335847.4:c.309G>A	p.Met103Ile	p.M103I	ENST00000335847	NM_001131.2	103	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4931.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGCATATT	NONE	.	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF68,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797	.	.	ENSP00000338276	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000335847	Transcript	.	.	ENSG00000124812	304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.32)	.	CRIS1_HUMAN	CRISP1	HGNC	.	.	UPI0000128482	SNV	CRISP1,missense_variant,p.Met103Ile,ENST00000507853,;CRISP1,missense_variant,p.Met103Ile,ENST00000329411,;CRISP1,missense_variant,p.Met103Ile,ENST00000335847,;CRISP1,missense_variant,p.Met103Ile,ENST00000536021,;CRISP1,missense_variant,p.Met103Ile,ENST00000505118,;CRISP1,missense_variant,p.Met103Ile,ENST00000355791,;	411	68	70	SUCCESS
PM20D2	135293	.	GRCh37	6	89856211	89856211	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000275072.4:c.348G>A	p.Ala116=	p.A116=	ENST00000275072	NM_001010853.2	116	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34499.1	348	MUTECT|MUSE	.	GACGCGCTGCC	NONE	.	.	hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF2,Pfam_domain:PF01546,Gene3D:3.40.630.10,PIRSF_domain:PIRSF037226,Superfamily_domains:SSF53187	.	.	ENSP00000275072	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000275072	Transcript	.	.	ENSG00000146281	21408	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P20D2_HUMAN	PM20D2	HGNC	.	.	UPI0000160C07	SNV	PM20D2,synonymous_variant,p.%3D,ENST00000275072,;	443	11	9	SUCCESS
TRIM56	81844	.	GRCh37	7	100731596	100731596	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	23	0	ENST00000306085.6:c.1003C>T	p.Leu335=	p.L335=	ENST00000306085	NM_030961.1	335	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43625.1	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCTGCAG	NONE	.	.	hmmpanther:PTHR24103:SF287,hmmpanther:PTHR24103	.	.	ENSP00000305161	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000306085	Transcript	.	.	ENSG00000169871	19028	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI56_HUMAN	TRIM56	HGNC	.	.	UPI0000171C4A	SNV	TRIM56,synonymous_variant,p.%3D,ENST00000306085,;TRIM56,intron_variant,,ENST00000412507,;TRIM56,upstream_gene_variant,,ENST00000487252,;TRIM56,downstream_gene_variant,,ENST00000467847,;	1300	23	42	SUCCESS
IGFBP1	3484	.	GRCh37	7	45931536	45931536	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	67	0	ENST00000275525.3:c.525C>G	p.Pro175=	p.P175=	ENST00000275525	NM_000596.2	175	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5504.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCTGCCG	BUFFER|p.R177Q|c.530G>A|3	.	.	Prints_domain:PR01976,Superfamily_domains:SSF57610,Gene3D:4.10.800.10,hmmpanther:PTHR11551:SF6,hmmpanther:PTHR11551,PROSITE_profiles:PS51162	.	.	ENSP00000275525	.	3/4	.	.	.	.	.	.	.	.	COSM601511	3/4	PASS	ENST00000275525	Transcript	.	.	ENSG00000146678	5469	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IBP1_HUMAN	IGFBP1	HGNC	C1K3N3_HUMAN	.	UPI000012D10E	SNV	IGFBP1,synonymous_variant,p.%3D,ENST00000275525,;IGFBP1,synonymous_variant,p.%3D,ENST00000457280,;IGFBP1,intron_variant,,ENST00000468955,;	821	67	45	SUCCESS
TONSL	4796	.	GRCh37	8	145666384	145666384	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	70	0	ENST00000409379.3:c.976G>C	p.Asp326His	p.D326H	ENST00000409379	NM_013432.4	326	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS34968.2	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCTCCTG	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000386239	.	8/26	.	.	.	.	.	.	.	.	COSM3898274,COSM3898273	8/26	PASS	ENST00000409379	Transcript	.	.	ENSG00000160949	7801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.172)	.	tolerated(0.15)	1,1	TONSL_HUMAN	TONSL	HGNC	.	.	UPI0000424A3B	SNV	TONSL,missense_variant,p.Asp326His,ENST00000409379,;AC084125.4,downstream_gene_variant,,ENST00000544423,;AC084125.4,downstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	1006	70	100	SUCCESS
PDP1	54704	.	GRCh37	8	94935709	94935709	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	67	68	0	ENST00000297598.4:c.1422G>A	p.Glu474=	p.E474=	ENST00000297598	NM_018444.3	474	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS55262.1	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGGATCA	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF213,Gene3D:3.60.40.10,SMART_domains:SM00332	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	SNV	PDP1,synonymous_variant,p.%3D,ENST00000517764,;PDP1,synonymous_variant,p.%3D,ENST00000396200,;PDP1,synonymous_variant,p.%3D,ENST00000520728,;PDP1,synonymous_variant,p.%3D,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	1773	68	115	SUCCESS
NOTCH1	4851	.	GRCh37	9	139395113	139395113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	52	0	ENST00000277541.6:c.5825A>T	p.Asp1942Val	p.D1942V	ENST00000277541	NM_017617.3	1942	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS43905.1	5825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCATCAGAG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24033:SF37,hmmpanther:PTHR24033,Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF002279,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000277541	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious(0)	.	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	SNV	NOTCH1,missense_variant,p.Asp1942Val,ENST00000277541,;NOTCH1,downstream_gene_variant,,ENST00000494783,;	5901	52	42	SUCCESS
ACO1	48	.	GRCh37	9	32431729	32431729	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781536310	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	95	0	ENST00000309951.6:c.1739A>G	p.Lys580Arg	p.K580R	ENST00000309951	NM_002197.2	580	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6525.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAAGGGAC	NONE	.	.	hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF53732	.	.	ENSP00000309477	.	15/21	.	.	.	.	.	.	.	.	rs781536310	15/21	PASS	ENST00000309951	Transcript	.	.	ENSG00000122729	117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.02)	.	ACOC_HUMAN	ACO1	HGNC	Q9HBB2_HUMAN	.	UPI000012D87E	SNV	ACO1,missense_variant,p.Lys580Arg,ENST00000379923,;ACO1,missense_variant,p.Lys580Arg,ENST00000309951,;ACO1,missense_variant,p.Lys481Arg,ENST00000541043,;	1877	95	70	SUCCESS
AVPR2	554	.	GRCh37	X	153171432	153171432	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1405690279	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	11	16	0	ENST00000337474.5:c.472C>T	p.Arg158Trp	p.R158W	ENST00000337474	NM_001146151.1	158	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS14735.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic	GGAACCGGCCG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Prints_domain:PR00898,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24241:SF20,hmmpanther:PTHR24241,PROSITE_profiles:PS50262	.	.	ENSP00000351805	.	3/4	.	.	.	.	.	.	.	.	rs193922115	3/4	PASS	ENST00000358927	Transcript	.	.	ENSG00000126895	897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.932)	.	tolerated(0.12)	.	V2R_HUMAN	AVPR2	HGNC	.	.	UPI000005043B	SNV	AVPR2,missense_variant,p.Arg158Trp,ENST00000358927,;AVPR2,missense_variant,p.Arg158Trp,ENST00000337474,;AVPR2,missense_variant,p.Arg158Trp,ENST00000430697,;AVPR2,missense_variant,p.Arg158Trp,ENST00000370049,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000537206,;ARHGAP4,downstream_gene_variant,,ENST00000350060,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000370028,;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,intron_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;	681	16	15	SUCCESS
PLXNA3	55558	.	GRCh37	X	153691734	153691734	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs782647984	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	20	33	0	ENST00000369682.3:c.1318G>T	p.Val440Leu	p.V440L	ENST00000369682	NM_017514.3	440	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS14752.1	1318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGTGCGG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000358696	.	5/33	.	.	.	.	.	.	.	.	rs782647984	5/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.389)	.	deleterious(0.02)	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,missense_variant,p.Val440Leu,ENST00000369682,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000482598,;PLXNA3,upstream_gene_variant,,ENST00000478236,;	1493	33	30	SUCCESS
WNK3	65267	.	GRCh37	X	54321102	54321102	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	24	39	0	ENST00000354646.2:c.1577T>C	p.Leu526Ser	p.L526S	ENST00000354646	NM_020922.4	526	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS14357.1	1577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTAAAGTT	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	.	.	ENSP00000346667	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000354646	Transcript	.	.	ENSG00000196632	14543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.1)	.	WNK3_HUMAN	WNK3	HGNC	B1AQN8_HUMAN	.	UPI00001AF003	SNV	WNK3,missense_variant,p.Leu526Ser,ENST00000375159,;WNK3,missense_variant,p.Leu526Ser,ENST00000354646,;WNK3,missense_variant,p.Leu526Ser,ENST00000375169,;	2016	39	40	SUCCESS
SYTL4	94121	.	GRCh37	X	99942170	99942170	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777193426	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	55	105	0	ENST00000263033.5:c.1078A>G	p.Ile360Val	p.I360V	ENST00000263033	NM_001129896.2	360	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14472.1	1078	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAATCCTGC	NONE	byFrequency	.	hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562,Prints_domain:PR00399	.	.	ENSP00000390252	.	12/18	.	.	.	.	.	.	.	.	rs777193426	12/18	common_in_exac	ENST00000455616	Transcript	.	.	ENSG00000102362	15588	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.15)	.	SYTL4_HUMAN	SYTL4	HGNC	B3KUZ4_HUMAN	.	UPI00001AE9F2	SNV	SYTL4,missense_variant,p.Ile360Val,ENST00000372989,;SYTL4,missense_variant,p.Ile362Val,ENST00000454200,;SYTL4,missense_variant,p.Ile360Val,ENST00000263033,;SYTL4,missense_variant,p.Ile360Val,ENST00000455616,;SYTL4,missense_variant,p.Ile360Val,ENST00000276141,;SYTL4,3_prime_UTR_variant,,ENST00000372981,;	1425	106	74	SUCCESS
FAM171A1	221061	.	GRCh37	10	15255031	15255031	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	37	49	0	ENST00000378116.4:c.2556G>T	p.Gln852His	p.Q852H	ENST00000378116	NM_001010924.1	852	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS31154.1	2556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCTGGTG	NONE	.	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	.	ENSP00000367356	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.66)	.	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,missense_variant,p.Gln852His,ENST00000378116,;FAM171A1,downstream_gene_variant,,ENST00000477161,;	2563	49	59	SUCCESS
CC2D2B	387707	.	GRCh37	10	97772324	97772324	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770491579	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	136	1	ENST00000344386.3:c.156G>C	p.Gln52His	p.Q52H	ENST00000344386	NM_001001732.3	52	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS53560.1	156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGATTTT	NONE	byFrequency	.	hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF2	.	.	ENSP00000386988	.	5/12	.	.	.	.	.	.	.	.	rs770491579,COSM3868171,COSM3868170	5/12	PASS	ENST00000410012	Transcript	.	.	ENSG00000188649	31666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.006)	.	deleterious(0.04)	0,1,1	C2D2B_HUMAN	CC2D2B	HGNC	.	.	UPI0001A4205F	SNV	CC2D2B,missense_variant,p.Gln113His,ENST00000424464,;CC2D2B,missense_variant,p.Gln52His,ENST00000410012,;CC2D2B,missense_variant,p.Gln52His,ENST00000344386,;CC2D2B,intron_variant,,ENST00000371198,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000451364,;ENTPD1-AS1,intron_variant,,ENST00000452728,;RP11-690P14.4,intron_variant,,ENST00000475252,;	367	137	108	SUCCESS
ZNF518A	9849	.	GRCh37	10	97919225	97919225	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs373865317	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	119	0	ENST00000316045.5:n.2150G>A		p.*717*	ENST00000316045				0	C:0.0003	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGCCCTT	NONE	byFrequency|byCluster	.	.	.	C:0	.	.	6/7	.	.	.	.	.	.	.	.	rs373865317	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000316045,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	4003	119	99	SUCCESS
EXPH5	23086	.	GRCh37	11	108385423	108385423	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1235597923	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	108	0	ENST00000265843.4:c.811A>G	p.Ile271Val	p.I271V	ENST00000265843	NM_015065.2	271	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8341.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGATAGACA	NONE	.	.	hmmpanther:PTHR21469	.	.	ENSP00000265843	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000265843	Transcript	.	.	ENSG00000110723	30578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	deleterious(0.04)	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,missense_variant,p.Ile195Val,ENST00000428840,;EXPH5,missense_variant,p.Ile83Val,ENST00000443411,;EXPH5,missense_variant,p.Ile83Val,ENST00000533052,;EXPH5,missense_variant,p.Ile264Val,ENST00000525344,;EXPH5,missense_variant,p.Ile195Val,ENST00000526312,;EXPH5,missense_variant,p.Ile271Val,ENST00000265843,;EXPH5,non_coding_transcript_exon_variant,,ENST00000524840,;	922	108	70	SUCCESS
ABCG4	64137	.	GRCh37	11	119025597	119025597	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	89	0	ENST00000307417.3:c.658C>T	p.Pro220Ser	p.P220S	ENST00000307417	NM_022169.4	220	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8415.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGCCTGTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211,PROSITE_profiles:PS50893	.	.	ENSP00000304111	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000307417	Transcript	.	.	ENSG00000172350	13884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	deleterious(0.05)	.	ABCG4_HUMAN	ABCG4	HGNC	Q9NT30_HUMAN,E9PJ00_HUMAN	.	UPI000000D999	SNV	ABCG4,missense_variant,p.Pro220Ser,ENST00000307417,;ABCG4,missense_variant,p.Pro220Ser,ENST00000449422,;ABCG4,missense_variant,p.Pro220Ser,ENST00000531739,;AP002956.1,downstream_gene_variant,,ENST00000599663,;ABCG4,downstream_gene_variant,,ENST00000524604,;ABCG4,upstream_gene_variant,,ENST00000534402,;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;	1022	89	70	SUCCESS
OTOG	340990	.	GRCh37	11	17650787	17650787	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	68	0	ENST00000399391.2:c.6672C>A	p.Ile2224=	p.I2224=	ENST00000399391	NM_001277269.1	2224	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS59225.1	6672	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGATCCAGTG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000382323	.	39/55	.	.	.	.	.	.	.	.	.	39/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,synonymous_variant,p.%3D,ENST00000399397,;OTOG,synonymous_variant,p.%3D,ENST00000342528,;OTOG,synonymous_variant,p.%3D,ENST00000399391,;	6672	68	44	SUCCESS
KCNC1	3746	.	GRCh37	11	17758086	17758086	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	71	0	ENST00000379472.3:c.537C>A	p.Leu179=	p.L179=	ENST00000379472	NM_004976.4	179	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44547.1	537	RADIA|MUSE	.	GCGCTCTTCGA	NONE	.	.	Gene3D:1.20.120.350,hmmpanther:PTHR11537:SF87,hmmpanther:PTHR11537	.	.	ENSP00000265969	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000265969	Transcript	.	.	ENSG00000129159	6233	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KCNC1	HGNC	K4DI87_HUMAN	.	UPI0000E2291F	SNV	KCNC1,synonymous_variant,p.%3D,ENST00000379472,;KCNC1,synonymous_variant,p.%3D,ENST00000265969,;	1728	71	65	SUCCESS
OR5M3	219482	.	GRCh37	11	56237301	56237301	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs138643585	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	77	207	0	ENST00000312240.2:c.673C>T	p.Arg225Ter	p.R225*	ENST00000312240	NM_001004742.2	225	Cga/Tga	0	C:0	A:0	.	A:0	.	A	R/*	protein_coding	YES	CCDS31532.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGCAGAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	A:0	C:0.0001	ENSP00000312208	A:0.001	1/1	.	.	.	.	.	.	.	.	rs138643585,COSM3700096	1/1	PASS	ENST00000312240	Transcript	.	A:0.0002	ENSG00000174937	14806	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	OR5M3_HUMAN	OR5M3	HGNC	.	.	UPI0000041BAA	SNV	OR5M3,stop_gained,p.Arg225Ter,ENST00000312240,;	714	207	177	SUCCESS
MS4A14	84689	.	GRCh37	11	60184358	60184358	+	synonymous_variant	Silent	SNP	G	G	T	rs375353153	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	47	114	0	ENST00000300187.6:c.1917G>T	p.Leu639=	p.L639=	ENST00000300187	NM_032597.4	639	ctG/ctT	0	C:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS58136.1	2016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGTTATG	NONE	byCluster	.	.	.	C:0	ENSP00000433761	.	6/6	.	.	.	.	.	.	.	.	rs375353153	6/6	PASS	ENST00000531783	Transcript	.	.	ENSG00000166928	30706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MS4A14	HGNC	E9PJE3_HUMAN	.	UPI0001F77AC2	SNV	MS4A14,synonymous_variant,p.%3D,ENST00000395005,;MS4A14,synonymous_variant,p.%3D,ENST00000531783,;MS4A14,synonymous_variant,p.%3D,ENST00000531787,;MS4A14,synonymous_variant,p.%3D,ENST00000300187,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;	2107	114	96	SUCCESS
ME3	10873	.	GRCh37	11	86267694	86267694	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1359610201	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	85	0	ENST00000393324.3:c.368G>A	p.Arg123Gln	p.R123Q	ENST00000393324	NM_001014811.1	123	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8277.1	368	RADIA|MUTECT|MUSE	.	GCACTCGGTAG	NONE	.	.	Prints_domain:PR00072,Superfamily_domains:SSF53223,PIRSF_domain:PIRSF000106,Pfam_domain:PF00390,Gene3D:3.40.50.10380,hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF20	.	.	ENSP00000440246	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000543262	Transcript	.	.	ENSG00000151376	6985	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.758)	.	deleterious(0.02)	.	MAON_HUMAN	ME3	HGNC	E9PQP5_HUMAN,E9PNN2_HUMAN,E9PMB9_HUMAN	.	UPI000013DC4F	SNV	ME3,missense_variant,p.Arg123Gln,ENST00000530335,;ME3,missense_variant,p.Arg123Gln,ENST00000524826,;ME3,missense_variant,p.Arg123Gln,ENST00000543262,;ME3,missense_variant,p.Arg123Gln,ENST00000393324,;ME3,missense_variant,p.Arg61Gln,ENST00000323418,;ME3,missense_variant,p.Arg123Gln,ENST00000359636,;RP11-317J19.1,intron_variant,,ENST00000524610,;ME3,missense_variant,p.Arg123Gln,ENST00000526504,;ME3,non_coding_transcript_exon_variant,,ENST00000530520,;	695	85	63	SUCCESS
FAT3	120114	.	GRCh37	11	92533328	92533328	+	synonymous_variant	Silent	SNP	C	C	T	rs770367803	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	48	96	0	ENST00000298047.6:c.7149C>T	p.Tyr2383=	p.Y2383=	ENST00000298047		2383	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	.	7149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACATCTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_patterns:PS00232,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	rs770367803	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;	7166	96	75	SUCCESS
MED13L	23389	.	GRCh37	12	116444191	116444191	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	43	117	0	ENST00000281928.3:c.2264A>G	p.Asp755Gly	p.D755G	ENST00000281928	NM_015335.4	755	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9177.1	2264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATCCTTG	NONE	.	.	hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	.	ENSP00000281928	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.2)	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,missense_variant,p.Asp755Gly,ENST00000281928,;MED13L,downstream_gene_variant,,ENST00000549755,;	2471	117	94	SUCCESS
RPLP0	6175	.	GRCh37	12	120634712	120634715	+	frameshift_variant	Frame_Shift_Del	DEL	GATG	GATG	-	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	GATG	GATG	.	.	.	.	.	.	.	.	.	.	.	.	.	145	78	346	0	ENST00000228306.4:c.815_818del	p.Pro272LeufsTer63	p.P272Lfs*63	ENST00000228306	NM_053275.3	272	cCATCt/ct	0	.	.	.	.	.	-	PS/X	protein_coding	YES	CCDS9193.1	815-818	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGCAGATGGATCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21141:SF3,hmmpanther:PTHR21141,Pfam_domain:PF00428	.	.	ENSP00000449328	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000551150	Transcript	.	.	ENSG00000089157	10371	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RLA0_HUMAN	RPLP0	HGNC	F8VU65_HUMAN	.	UPI0000134221	deletion	RPLP0,frameshift_variant,p.Pro223LeufsTer?,ENST00000546990,;RPLP0,frameshift_variant,p.Pro272LeufsTer63,ENST00000551150,;RPLP0,frameshift_variant,p.Pro62LeufsTer63,ENST00000552292,;RPLP0,frameshift_variant,p.Pro272LeufsTer63,ENST00000228306,;RPLP0,frameshift_variant,p.Pro272LeufsTer63,ENST00000392514,;RPLP0,frameshift_variant,p.Pro210LeufsTer63,ENST00000313104,;RPLP0,frameshift_variant,p.Pro236LeufsTer63,ENST00000546989,;RPLP0,downstream_gene_variant,,ENST00000551914,;RPLP0,downstream_gene_variant,,ENST00000550856,;RPLP0,downstream_gene_variant,,ENST00000547191,;RPLP0,downstream_gene_variant,,ENST00000547211,;GCN1L1,upstream_gene_variant,,ENST00000300648,;RPLP0,downstream_gene_variant,,ENST00000550423,;PXN-AS1,upstream_gene_variant,,ENST00000539446,;PXN-AS1,upstream_gene_variant,,ENST00000542265,;PXN-AS1,upstream_gene_variant,,ENST00000542314,;PXN-AS1,upstream_gene_variant,,ENST00000535200,;PXN-AS1,upstream_gene_variant,,ENST00000538804,;RPLP0,downstream_gene_variant,,ENST00000550296,;RPLP0,downstream_gene_variant,,ENST00000551336,;RPLP0,3_prime_UTR_variant,,ENST00000549098,;RPLP0,3_prime_UTR_variant,,ENST00000551258,;RPLP0,non_coding_transcript_exon_variant,,ENST00000551217,;RPLP0,non_coding_transcript_exon_variant,,ENST00000552461,;RPLP0,downstream_gene_variant,,ENST00000546564,;RPLP0,downstream_gene_variant,,ENST00000552902,;RPLP0,downstream_gene_variant,,ENST00000551783,;RPLP0,downstream_gene_variant,,ENST00000547173,;RPLP0,downstream_gene_variant,,ENST00000547475,;RPLP0,downstream_gene_variant,,ENST00000548551,;RPLP0,downstream_gene_variant,,ENST00000548495,;RPLP0,downstream_gene_variant,,ENST00000549242,;RPLP0,downstream_gene_variant,,ENST00000548568,;	1131-1134	346	223	SUCCESS
SETD1B	23067	.	GRCh37	12	122247901	122247901	+	synonymous_variant	Silent	SNP	G	G	A	rs1008545789	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	34	57	0	ENST00000604567.1:c.1050G>A	p.Ser350=	p.S350=	ENST00000604567		350	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53838.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGGACCT	NONE	.	.	hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	.	.	ENSP00000267197	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000267197	Transcript	.	.	ENSG00000139718	29187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,synonymous_variant,p.%3D,ENST00000604567,;SETD1B,synonymous_variant,p.%3D,ENST00000542440,;SETD1B,synonymous_variant,p.%3D,ENST00000267197,;	1056	57	59	SUCCESS
HCAR2	338442	.	GRCh37	12	123186897	123186897	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1236755442	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	48	241	0	ENST00000328880.5:c.934T>C	p.Cys312Arg	p.C312R	ENST00000328880	NM_177551.3	312	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS9235.1	934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCAGCGGT	NONE	.	.	hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000375066	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328880	Transcript	.	.	ENSG00000182782	24827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.24)	.	HCAR2_HUMAN	HCAR2	HGNC	.	.	UPI000003BCD5	SNV	HCAR2,missense_variant,p.Cys312Arg,ENST00000328880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;	994	241	193	SUCCESS
HCAR3	8843	.	GRCh37	12	123200351	123200351	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	67	0	ENST00000528880.2:c.934T>C	p.Cys312Arg	p.C312R	ENST00000528880	NM_006018.2	312	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS53842.1	934	MUTECT|VARSCANS	.	GAGGCAGCGGT	NONE	.	.	hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000436714	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000528880	Transcript	.	.	ENSG00000255398	16824	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.14)	.	HCAR3_HUMAN	HCAR3	HGNC	.	.	UPI00001AFD35	SNV	HCAR3,missense_variant,p.Cys312Arg,ENST00000528880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000543611,;RP11-324E6.6,downstream_gene_variant,,ENST00000545293,;	1089	67	51	SUCCESS
WBP11	51729	.	GRCh37	12	14948022	14948022	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	46	0	ENST00000261167.2:c.404A>T	p.Glu135Val	p.E135V	ENST00000261167	NM_016312.2	135	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS8666.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTTCCACA	NONE	.	.	hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361	.	.	ENSP00000261167	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000261167	Transcript	.	.	ENSG00000084463	16461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	WBP11_HUMAN	WBP11	HGNC	F5GXS9_HUMAN,B4DMD3_HUMAN	.	UPI0000035FC2	SNV	WBP11,missense_variant,p.Glu135Val,ENST00000261167,;WBP11,downstream_gene_variant,,ENST00000535328,;WBP11,intron_variant,,ENST00000535638,;WBP11,downstream_gene_variant,,ENST00000544764,;	638	46	42	SUCCESS
KLHL42	57542	.	GRCh37	12	27933349	27933349	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs911425310	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	94	0	ENST00000381271.2:c.86A>G	p.Tyr29Cys	p.Y29C	ENST00000381271	NM_020782.1	29	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31763.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTACTTCC	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF54,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Superfamily_domains:SSF54695	.	.	ENSP00000370671	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381271	Transcript	.	.	ENSG00000087448	29252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	KLH42_HUMAN	KLHL42	HGNC	B2RNT7_HUMAN	.	UPI0000185FB1	SNV	KLHL42,missense_variant,p.Tyr29Cys,ENST00000381271,;KLHL42,upstream_gene_variant,,ENST00000543254,;RP11-860B13.1,intron_variant,,ENST00000545904,;KLHL42,missense_variant,p.Tyr29Cys,ENST00000539176,;	397	94	59	SUCCESS
VAMP1	6843	.	GRCh37	12	6574038	6574038	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	60	0	ENST00000396308.3:c.340+18T>C		p.*114*	ENST00000396308	NM_199245.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41740.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAACTTC	NONE	.	.	.	.	.	ENSP00000379602	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	SNV	VAMP1,3_prime_UTR_variant,,ENST00000361716,;VAMP1,intron_variant,,ENST00000396308,;VAMP1,intron_variant,,ENST00000535180,;VAMP1,intron_variant,,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;TAPBPL,intron_variant,,ENST00000545700,;VAMP1,intron_variant,,ENST00000544432,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;VAMP1,downstream_gene_variant,,ENST00000539047,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,non_coding_transcript_exon_variant,,ENST00000535927,;VAMP1,non_coding_transcript_exon_variant,,ENST00000538970,;	.	60	50	SUCCESS
HELB	92797	.	GRCh37	12	66731799	66731799	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	36	107	0	ENST00000247815.4:c.3181G>C	p.Val1061Leu	p.V1061L	ENST00000247815	NM_033647.3	1061	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS8976.1	3181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGTGTCT	NONE	.	.	.	.	.	ENSP00000247815	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000247815	Transcript	.	.	ENSG00000127311	17196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.21)	.	HELB_HUMAN	HELB	HGNC	.	.	UPI000013CC2D	SNV	HELB,missense_variant,p.Val1061Leu,ENST00000247815,;HELB,missense_variant,p.Val1061Leu,ENST00000545134,;HELB,3_prime_UTR_variant,,ENST00000440906,;HELB,3_prime_UTR_variant,,ENST00000542394,;	3240	107	67	SUCCESS
CAND1	55832	.	GRCh37	12	67705572	67705572	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	59	135	0	ENST00000545606.1:c.3460A>G	p.Thr1154Ala	p.T1154A	ENST00000545606	NM_018448.3	1154	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8977.1	3460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTACAACT	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Pfam_domain:PF08623,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.366)	.	tolerated(0.08)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Thr1154Ala,ENST00000545606,;CAND1,missense_variant,p.Thr694Ala,ENST00000544619,;CAND1,downstream_gene_variant,,ENST00000540319,;	3897	135	117	SUCCESS
SOCS2	8835	.	GRCh37	12	93966549	93966549	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	25	46	0	ENST00000340600.2:c.-125C>A		p.*42*	ENST00000340600	NM_003877.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9047.1	.	MUTECT|MUSE	.	CTCTGCCACCA	NONE	.	.	.	.	.	ENSP00000339428	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000340600	Transcript	.	.	ENSG00000120833	19382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOCS2_HUMAN	SOCS2	HGNC	F8VU91_HUMAN,F8VRV3_HUMAN,B4DMW5_HUMAN	.	UPI0000135B63	SNV	SOCS2,5_prime_UTR_variant,,ENST00000548537,;SOCS2,5_prime_UTR_variant,,ENST00000549206,;SOCS2,5_prime_UTR_variant,,ENST00000340600,;SOCS2,5_prime_UTR_variant,,ENST00000551556,;SOCS2,5_prime_UTR_variant,,ENST00000549887,;SOCS2,5_prime_UTR_variant,,ENST00000536696,;SOCS2,5_prime_UTR_variant,,ENST00000547229,;SOCS2,5_prime_UTR_variant,,ENST00000548091,;SOCS2,5_prime_UTR_variant,,ENST00000549122,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;	474	46	41	SUCCESS
MIR409	574413	.	GRCh37	14	101531693	101531693	+	mature_miRNA_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	55	109	0	ENST00000362237.1:n.57C>A		p.*19*	ENST00000362237				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTCGGTGA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000362237	Transcript	.	.	ENSG00000199107	32055	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR409	HGNC	.	.	.	SNV	MIR409,non_coding_transcript_exon_variant,,ENST00000362237,;MIR541,downstream_gene_variant,,ENST00000401360,;MIR656,upstream_gene_variant,,ENST00000385224,;MEG9,upstream_gene_variant,,ENST00000429368,;MIR412,upstream_gene_variant,,ENST00000362142,;MIR369,upstream_gene_variant,,ENST00000362155,;MIR410,upstream_gene_variant,,ENST00000362222,;MIR496,downstream_gene_variant,,ENST00000385226,;MIR377,downstream_gene_variant,,ENST00000362145,;	57	110	105	SUCCESS
HSPA2	3306	.	GRCh37	14	65008434	65008434	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	56	0	ENST00000247207.6:c.867G>A	p.Ser289=	p.S289=	ENST00000247207	NM_021979.3	289	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9766.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGCTCTA	NONE	.	.	hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF142,Gene3D:3.90.640.10,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000247207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247207	Transcript	.	.	ENSG00000126803	5235	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSP72_HUMAN	HSPA2	HGNC	.	.	UPI000012CC6A	SNV	HSPA2,synonymous_variant,p.%3D,ENST00000247207,;HSPA2,synonymous_variant,p.%3D,ENST00000394709,;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,downstream_gene_variant,,ENST00000554883,;	1249	56	36	SUCCESS
LTBP2	4053	.	GRCh37	14	74988710	74988710	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs1208099717	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	97	0	ENST00000261978.4:c.2692G>T	p.Gly898Ter	p.G898*	ENST00000261978	NM_000428.2	898	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS9831.1	2692	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCCTTGC	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF07645,Gene3D:2.10.25.10,PROSITE_patterns:PS01187,hmmpanther:PTHR24034:SF40,hmmpanther:PTHR24034,PROSITE_profiles:PS50026	.	.	ENSP00000261978	.	17/36	.	.	.	.	.	.	.	.	COSM3497946	17/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,stop_gained,p.Gly898Ter,ENST00000261978,;LTBP2,stop_gained,p.Gly898Ter,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000556359,;LTBP2,stop_gained,p.Gly898Ter,ENST00000553939,;	3079	97	84	SUCCESS
FLRT2	23768	.	GRCh37	14	86089396	86089396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	127	0	ENST00000330753.4:c.1538C>A	p.Thr513Asn	p.T513N	ENST00000330753	NM_013231.4	513	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS9877.1	1538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACCACCC	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23,PROSITE_profiles:PS50853	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.14)	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,missense_variant,p.Thr513Asn,ENST00000330753,;FLRT2,missense_variant,p.Thr513Asn,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2305	127	111	SUCCESS
HERC2	8924	.	GRCh37	15	28441502	28441502	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	103	318	0	ENST00000261609.7:c.8121-2A>T		p.X2707_splice	ENST00000261609	NM_004667.5	2707		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10021.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCTATTTG	NONE	.	.	.	.	.	ENSP00000261609	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	HIGH	51/92	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,splice_acceptor_variant,,ENST00000261609,;HERC2,splice_acceptor_variant,,ENST00000567869,;	.	318	227	SUCCESS
PHGR1	644844	.	GRCh37	15	40648356	40648356	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	66	154	0	ENST00000448599.2:c.101C>T	p.Pro34Leu	p.P34L	ENST00000448599	NM_001145643.1	34	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45225.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCACCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000410024	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000448599	Transcript	.	.	ENSG00000233041	37226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PHGR1_HUMAN	PHGR1	HGNC	.	.	UPI00015D3965	SNV	PHGR1,missense_variant,p.Pro34Leu,ENST00000448599,;DISP2,upstream_gene_variant,,ENST00000267889,;PHGR1,downstream_gene_variant,,ENST00000560745,;	157	154	135	SUCCESS
PLA2G4F	255189	.	GRCh37	15	42446415	42446415	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138153111	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	65	0	ENST00000397272.3:c.325G>A	p.Val109Ile	p.V109I	ENST00000397272	NM_213600.3	109	Gtc/Atc	0	T:0.0045	T:0.0023	.	T:0	.	T	V/I	protein_coding	YES	CCDS32204.1	325	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACGTTCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	T:0	T:0.0001	ENSP00000371833	T:0	4/20	.	.	.	.	.	.	.	.	rs138153111	4/20	PASS	ENST00000382396	Transcript	.	T:0.0006	ENSG00000168907	27396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.08)	T:0	tolerated(0.58)	.	PA24F_HUMAN	PLA2G4F	HGNC	.	.	UPI0000160965	SNV	PLA2G4F,missense_variant,p.Val109Ile,ENST00000397272,;PLA2G4F,missense_variant,p.Val109Ile,ENST00000382396,;VPS39,downstream_gene_variant,,ENST00000318006,;PLA2G4F,missense_variant,p.Val109Ile,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000565553,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,intron_variant,,ENST00000561627,;VPS39,downstream_gene_variant,,ENST00000562258,;	412	65	64	SUCCESS
PRSS41	360226	.	GRCh37	16	2855034	2855034	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs937717865	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	46	95	0	ENST00000399677.1:n.858T>C		p.*286*	ENST00000399677				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTGTGTA	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000399677	Transcript	.	.	ENSG00000215148	30715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PRSS41	HGNC	.	.	.	SNV	PRSS41,non_coding_transcript_exon_variant,,ENST00000399677,;PRSS41,non_coding_transcript_exon_variant,,ENST00000421271,;	858	95	92	SUCCESS
SRCAP	10847	.	GRCh37	16	30744975	30744975	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	36	118	1	ENST00000262518.4:c.6350C>T	p.Ser2117Leu	p.S2117L	ENST00000262518	NM_006662.2	2117	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS10689.2	6350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCAACTC	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000262518	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Ser2117Leu,ENST00000262518,;SRCAP,missense_variant,p.Ser1959Leu,ENST00000344771,;SRCAP,missense_variant,p.Ser2055Leu,ENST00000395059,;SRCAP,missense_variant,p.Ser1940Leu,ENST00000380361,;SRCAP,upstream_gene_variant,,ENST00000474008,;	6735	120	90	SUCCESS
ITGAM	3684	.	GRCh37	16	31341476	31341476	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	87	0	ENST00000287497.8:c.3051C>G	p.Ala1017=	p.A1017=	ENST00000287497		1017	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS54004.1	3054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCCCCGT	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69179	.	.	ENSP00000441691	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,synonymous_variant,p.%3D,ENST00000287497,;ITGAM,synonymous_variant,p.%3D,ENST00000544665,;ITGAM,upstream_gene_variant,,ENST00000565142,;ITGAM,downstream_gene_variant,,ENST00000569746,;ITGAM,downstream_gene_variant,,ENST00000567178,;ITGAM,downstream_gene_variant,,ENST00000561838,;	3125	87	64	SUCCESS
FAM65A	0	.	GRCh37	16	67579380	67579380	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	49	159	0	ENST00000422602.2:c.3193G>C	p.Val1065Leu	p.V1065L	ENST00000422602	NM_001193523.1	1065	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS54026.1	3193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTGTGGAA	BUFFER|p.E1046G|c.3137A>G|3	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1	.	.	ENSP00000400099	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000422602	Transcript	.	.	ENSG00000039523	25836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.88)	.	FA65A_HUMAN	FAM65A	HGNC	H3BQI5_HUMAN,H3BV02_HUMAN,H3BUP6_HUMAN,H3BSV5_HUMAN,H3BS40_HUMAN	.	UPI0001AE68C6	SNV	FAM65A,missense_variant,p.Val1059Leu,ENST00000428437,;FAM65A,missense_variant,p.Val1065Leu,ENST00000422602,;FAM65A,missense_variant,p.Val93Leu,ENST00000568959,;FAM65A,missense_variant,p.Val1064Leu,ENST00000540839,;FAM65A,missense_variant,p.Val1045Leu,ENST00000042381,;FAM65A,missense_variant,p.Val1049Leu,ENST00000379312,;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000569179,;CTD-2012K14.6,downstream_gene_variant,,ENST00000565929,;CTD-2012K14.6,downstream_gene_variant,,ENST00000605277,;CTD-2012K14.4,upstream_gene_variant,,ENST00000564717,;CTD-2012K14.3,upstream_gene_variant,,ENST00000563083,;FAM65A,downstream_gene_variant,,ENST00000566522,;FAM65A,non_coding_transcript_exon_variant,,ENST00000565190,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,downstream_gene_variant,,ENST00000561534,;FAM65A,upstream_gene_variant,,ENST00000565679,;FAM65A,downstream_gene_variant,,ENST00000569474,;FAM65A,downstream_gene_variant,,ENST00000566815,;FAM65A,downstream_gene_variant,,ENST00000566730,;FAM65A,downstream_gene_variant,,ENST00000564616,;	3289	159	104	SUCCESS
PLA2G15	23659	.	GRCh37	16	68289848	68289848	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	84	0	ENST00000219345.5:c.682G>A	p.Ala228Thr	p.A228T	ENST00000219345	NM_012320.3	228	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10864.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTGCGCCC	NONE	.	.	hmmpanther:PTHR11440:SF47,hmmpanther:PTHR11440,Pfam_domain:PF02450,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000219345	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000219345	Transcript	.	.	ENSG00000103066	17163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.02)	.	PAG15_HUMAN	PLA2G15	HGNC	.	.	UPI00000359EF	SNV	PLA2G15,missense_variant,p.Ala248Thr,ENST00000568082,;PLA2G15,missense_variant,p.Cys186Tyr,ENST00000566188,;PLA2G15,missense_variant,p.Ala134Thr,ENST00000413021,;PLA2G15,missense_variant,p.Cys218Tyr,ENST00000564827,;PLA2G15,missense_variant,p.Ala228Thr,ENST00000219345,;PLA2G15,intron_variant,,ENST00000444212,;PLA2G15,downstream_gene_variant,,ENST00000565744,;RP11-96D1.7,downstream_gene_variant,,ENST00000563175,;RP11-96D1.7,downstream_gene_variant,,ENST00000569843,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000565460,;PLA2G15,downstream_gene_variant,,ENST00000562449,;PLA2G15,downstream_gene_variant,,ENST00000566978,;PLA2G15,downstream_gene_variant,,ENST00000562966,;	765	84	77	SUCCESS
LYZL6	57151	.	GRCh37	17	34264842	34264842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	44	119	0	ENST00000585556.1:c.218G>T	p.Gly73Val	p.G73V	ENST00000585556		73	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11302.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCCATAG	NONE	.	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF9,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00135	.	.	ENSP00000468094	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000585556	Transcript	.	.	ENSG00000161572	29614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	LYZL6_HUMAN	LYZL6	HGNC	.	.	UPI000006E183	SNV	LYZL6,missense_variant,p.Gly73Val,ENST00000394523,;LYZL6,missense_variant,p.Gly73Val,ENST00000585556,;LYZL6,missense_variant,p.Gly73Val,ENST00000293274,;LYZL6,non_coding_transcript_exon_variant,,ENST00000492340,;	553	119	91	SUCCESS
GGNBP2	79893	.	GRCh37	17	34945708	34945708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	34	131	0	ENST00000304718.4:c.1961A>G	p.Asn654Ser	p.N654S	ENST00000304718	NM_024835.4	654	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11314.1	1961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTAATAACC	NONE	.	.	hmmpanther:PTHR13601	.	.	ENSP00000307617	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000304718	Transcript	.	.	ENSG00000005955	19357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated_low_confidence(0.17)	.	GGNB2_HUMAN	GGNBP2	HGNC	K7ELA8_HUMAN,B4DWN7_HUMAN	.	UPI00000728CB	SNV	GGNBP2,missense_variant,p.Asn654Ser,ENST00000304718,;DHRS11,upstream_gene_variant,,ENST00000590554,;DHRS11,upstream_gene_variant,,ENST00000251312,;GGNBP2,downstream_gene_variant,,ENST00000588222,;DHRS11,upstream_gene_variant,,ENST00000394445,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000589269,;DHRS11,upstream_gene_variant,,ENST00000590527,;GGNBP2,downstream_gene_variant,,ENST00000586045,;GGNBP2,downstream_gene_variant,,ENST00000495023,;GGNBP2,downstream_gene_variant,,ENST00000483256,;	2277	131	104	SUCCESS
ITGAE	3682	.	GRCh37	17	3664407	3664407	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	34	0	ENST00000263087.4:c.498T>C	p.Gly166=	p.G166=	ENST00000263087	NM_002208.4	166	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32531.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCACCGCC	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF74	.	.	ENSP00000263087	.	6/31	.	.	.	.	.	.	.	.	.	6/31	PASS	ENST00000263087	Transcript	.	.	ENSG00000083457	6147	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAE_HUMAN	ITGAE	HGNC	.	.	UPI000049DE2D	SNV	ITGAE,synonymous_variant,p.%3D,ENST00000263087,;	597	34	28	SUCCESS
KRT20	54474	.	GRCh37	17	39036074	39036074	+	synonymous_variant	Silent	SNP	A	A	G	rs1453358125	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	75	0	ENST00000167588.3:c.909T>C	p.His303=	p.H303=	ENST00000167588	NM_019010.2	303	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS11379.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGATGGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Prints_domain:PR01248,Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF149,hmmpanther:PTHR23239	.	.	ENSP00000167588	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000167588	Transcript	.	.	ENSG00000171431	20412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C20_HUMAN	KRT20	HGNC	.	.	UPI000012DAF1	SNV	KRT20,synonymous_variant,p.%3D,ENST00000167588,;KRT20,downstream_gene_variant,,ENST00000482529,;	951	75	55	SUCCESS
KRT38	8687	.	GRCh37	17	39593759	39593759	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	76	234	0	ENST00000246646.3:c.1276T>A	p.Cys426Ser	p.C426S	ENST00000246646	NM_006771.3	426	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS11392.1	1276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCAGGAGG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	.	.	ENSP00000246646	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.2)	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,missense_variant,p.Cys426Ser,ENST00000246646,;	1276	234	178	SUCCESS
PTRF	0	.	GRCh37	17	40575009	40575009	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	120	0	ENST00000357037.5:c.107C>A	p.Ser36Ter	p.S36*	ENST00000357037	NM_012232.5	36	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS11425.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGACGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15240:SF3,hmmpanther:PTHR15240	.	.	ENSP00000349541	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000357037	Transcript	.	.	ENSG00000177469	9688	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTRF_HUMAN	PTRF	HGNC	.	.	UPI00001AF3C2	SNV	PTRF,stop_gained,p.Ser36Ter,ENST00000357037,;	527	120	101	SUCCESS
ANKFY1	51479	.	GRCh37	17	4080548	4080548	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	64	176	0	ENST00000341657.4:c.2648A>G	p.Asp883Gly	p.D883G	ENST00000341657	NM_016376.3	883	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS58502.1	2774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATATCAGAG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,missense_variant,p.Asp884Gly,ENST00000574367,;ANKFY1,missense_variant,p.Asp883Gly,ENST00000341657,;ANKFY1,missense_variant,p.Asp925Gly,ENST00000570535,;CYB5D2,intron_variant,,ENST00000573984,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,downstream_gene_variant,,ENST00000572564,;ANKFY1,downstream_gene_variant,,ENST00000571547,;	2891	176	127	SUCCESS
PCYT2	5833	.	GRCh37	17	79862774	79862774	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	63	0	ENST00000538936.2:c.1105G>T	p.Ala369Ser	p.A369S	ENST00000538936	NM_001256435.1	369	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS54178.1	1159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCCAGCT	NONE	.	.	hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF23,Low_complexity_(Seg):seg	.	.	ENSP00000442050	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000538721	Transcript	.	.	ENSG00000185813	8756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	tolerated(0.29)	.	PCY2_HUMAN	PCYT2	HGNC	I3L1F9_HUMAN,I3L1C4_HUMAN	.	UPI0000D4CB10	SNV	PCYT2,missense_variant,p.Ala187Ser,ENST00000572995,;PCYT2,missense_variant,p.Ala337Ser,ENST00000570391,;PCYT2,missense_variant,p.Ala291Ser,ENST00000331285,;PCYT2,missense_variant,p.Ala369Ser,ENST00000538936,;PCYT2,missense_variant,p.Ala347Ser,ENST00000571105,;PCYT2,missense_variant,p.Ala387Ser,ENST00000538721,;PCYT2,missense_variant,p.Ala291Ser,ENST00000570388,;PCYT2,incomplete_terminal_codon_variant,p.%3D,ENST00000576343,;ANAPC11,downstream_gene_variant,,ENST00000357385,;NPB,downstream_gene_variant,,ENST00000333383,;ANAPC11,downstream_gene_variant,,ENST00000578544,;ANAPC11,downstream_gene_variant,,ENST00000575195,;ANAPC11,downstream_gene_variant,,ENST00000574924,;PCYT2,downstream_gene_variant,,ENST00000572473,;ANAPC11,downstream_gene_variant,,ENST00000344877,;ANAPC11,downstream_gene_variant,,ENST00000579978,;ANAPC11,downstream_gene_variant,,ENST00000577425,;PCYT2,downstream_gene_variant,,ENST00000573927,;ANAPC11,downstream_gene_variant,,ENST00000585259,;ANAPC11,downstream_gene_variant,,ENST00000584197,;ANAPC11,downstream_gene_variant,,ENST00000583839,;ANAPC11,downstream_gene_variant,,ENST00000577747,;PCYT2,downstream_gene_variant,,ENST00000572157,;PCYT2,downstream_gene_variant,,ENST00000573636,;ANAPC11,downstream_gene_variant,,ENST00000571570,;ANAPC11,downstream_gene_variant,,ENST00000571874,;ANAPC11,downstream_gene_variant,,ENST00000579133,;ANAPC11,downstream_gene_variant,,ENST00000572851,;NPB,downstream_gene_variant,,ENST00000573081,;ANAPC11,downstream_gene_variant,,ENST00000571024,;ANAPC11,downstream_gene_variant,,ENST00000578550,;ANAPC11,downstream_gene_variant,,ENST00000392376,;ANAPC11,downstream_gene_variant,,ENST00000572639,;PCYT2,non_coding_transcript_exon_variant,,ENST00000572924,;PCYT2,non_coding_transcript_exon_variant,,ENST00000574343,;PCYT2,downstream_gene_variant,,ENST00000571581,;PCYT2,downstream_gene_variant,,ENST00000574155,;ANAPC11,downstream_gene_variant,,ENST00000573956,;PCYT2,downstream_gene_variant,,ENST00000573401,;PCYT2,downstream_gene_variant,,ENST00000571944,;	1210	63	54	SUCCESS
PCYT2	5833	.	GRCh37	17	79862775	79862775	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	65	0	ENST00000538936.2:c.1104G>C	p.Leu368=	p.L368=	ENST00000538936	NM_001256435.1	368	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS54178.1	1158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCAGCTC	NONE	.	.	hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF23,Low_complexity_(Seg):seg	.	.	ENSP00000442050	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000538721	Transcript	.	.	ENSG00000185813	8756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCY2_HUMAN	PCYT2	HGNC	I3L1F9_HUMAN,I3L1C4_HUMAN	.	UPI0000D4CB10	SNV	PCYT2,synonymous_variant,p.%3D,ENST00000572995,;PCYT2,synonymous_variant,p.%3D,ENST00000576343,;PCYT2,synonymous_variant,p.%3D,ENST00000570391,;PCYT2,synonymous_variant,p.%3D,ENST00000331285,;PCYT2,synonymous_variant,p.%3D,ENST00000538936,;PCYT2,synonymous_variant,p.%3D,ENST00000571105,;PCYT2,synonymous_variant,p.%3D,ENST00000538721,;PCYT2,synonymous_variant,p.%3D,ENST00000570388,;ANAPC11,downstream_gene_variant,,ENST00000357385,;NPB,downstream_gene_variant,,ENST00000333383,;ANAPC11,downstream_gene_variant,,ENST00000578544,;ANAPC11,downstream_gene_variant,,ENST00000575195,;ANAPC11,downstream_gene_variant,,ENST00000574924,;PCYT2,downstream_gene_variant,,ENST00000572473,;ANAPC11,downstream_gene_variant,,ENST00000344877,;ANAPC11,downstream_gene_variant,,ENST00000579978,;ANAPC11,downstream_gene_variant,,ENST00000577425,;PCYT2,downstream_gene_variant,,ENST00000573927,;ANAPC11,downstream_gene_variant,,ENST00000585259,;ANAPC11,downstream_gene_variant,,ENST00000584197,;ANAPC11,downstream_gene_variant,,ENST00000583839,;ANAPC11,downstream_gene_variant,,ENST00000577747,;PCYT2,downstream_gene_variant,,ENST00000572157,;PCYT2,downstream_gene_variant,,ENST00000573636,;ANAPC11,downstream_gene_variant,,ENST00000571570,;ANAPC11,downstream_gene_variant,,ENST00000571874,;ANAPC11,downstream_gene_variant,,ENST00000579133,;ANAPC11,downstream_gene_variant,,ENST00000572851,;NPB,downstream_gene_variant,,ENST00000573081,;ANAPC11,downstream_gene_variant,,ENST00000571024,;ANAPC11,downstream_gene_variant,,ENST00000578550,;ANAPC11,downstream_gene_variant,,ENST00000392376,;ANAPC11,downstream_gene_variant,,ENST00000572639,;PCYT2,non_coding_transcript_exon_variant,,ENST00000572924,;PCYT2,non_coding_transcript_exon_variant,,ENST00000574343,;PCYT2,downstream_gene_variant,,ENST00000571581,;PCYT2,downstream_gene_variant,,ENST00000574155,;ANAPC11,downstream_gene_variant,,ENST00000573956,;PCYT2,downstream_gene_variant,,ENST00000573401,;PCYT2,downstream_gene_variant,,ENST00000571944,;	1209	65	55	SUCCESS
ZNF750	79755	.	GRCh37	17	80789233	80789233	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	71	0	ENST00000269394.3:c.1098C>A	p.Asn366Lys	p.N366K	ENST00000269394	NM_024702.2	366	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS11819.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGTTTAA	NONE	.	.	hmmpanther:PTHR14678:SF1,hmmpanther:PTHR14678	.	.	ENSP00000269394	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000269394	Transcript	.	.	ENSG00000141579	25843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	tolerated(0.19)	.	ZN750_HUMAN	ZNF750	HGNC	I3L0W7_HUMAN,B4DWV0_HUMAN	.	UPI000013D82D	SNV	ZNF750,missense_variant,p.Asn366Lys,ENST00000269394,;ZNF750,5_prime_UTR_variant,,ENST00000572562,;TBCD,intron_variant,,ENST00000539345,;TBCD,intron_variant,,ENST00000397466,;TBCD,intron_variant,,ENST00000355528,;	1932	71	57	SUCCESS
COLGALT1	79709	.	GRCh37	19	17691643	17691643	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	63	0	ENST00000252599.4:c.1530G>T	p.Leu510=	p.L510=	ENST00000252599	NM_024656.2	510	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12363.1	1530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGGCTGC	NONE	.	.	hmmpanther:PTHR10730:SF10,hmmpanther:PTHR10730,Pfam_domain:PF01755	.	.	ENSP00000252599	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000252599	Transcript	.	.	ENSG00000130309	26182	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GT251_HUMAN	COLGALT1	HGNC	Q8WUI9_HUMAN,M0QYH0_HUMAN,B3KQ10_HUMAN	.	UPI000003B0F7	SNV	COLGALT1,synonymous_variant,p.%3D,ENST00000252599,;COLGALT1,downstream_gene_variant,,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000593832,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000597075,;	1650	63	53	SUCCESS
CYP2F1	1572	.	GRCh37	19	41631455	41631455	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	44	246	0	ENST00000331105.2:c.1210A>G	p.Thr404Ala	p.T404A	ENST00000331105	NM_000774.3	404	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS12572.1	1210	SOMATICSNIPER|VARSCANS	.	TCCTGACGCCC	NONE	.	.	hmmpanther:PTHR24300:SF15,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000333534	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000331105	Transcript	.	.	ENSG00000197446	2632	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	deleterious(0.02)	.	CP2F1_HUMAN	CYP2F1	HGNC	.	.	UPI000013C622	SNV	CYP2F1,missense_variant,p.Thr38Ala,ENST00000439903,;CYP2F1,missense_variant,p.Thr404Ala,ENST00000331105,;CYP2F1,missense_variant,p.Thr83Ala,ENST00000534009,;CYP2F1,3_prime_UTR_variant,,ENST00000532164,;CYP2F1,non_coding_transcript_exon_variant,,ENST00000531409,;CYP2F1,downstream_gene_variant,,ENST00000526093,;	1282	246	191	SUCCESS
MEGF8	1954	.	GRCh37	19	42880311	42880311	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	56	0	ENST00000251268.6:c.7922A>G	p.Gln2641Arg	p.Q2641R	ENST00000251268		2641	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS12604.2	7721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCAGGACC	NONE	.	.	.	.	.	ENSP00000334219	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,missense_variant,p.Gln235Arg,ENST00000378073,;MEGF8,missense_variant,p.Gln2574Arg,ENST00000334370,;MEGF8,missense_variant,p.Gln2641Arg,ENST00000251268,;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000599787,;	8356	56	52	SUCCESS
ZNF296	162979	.	GRCh37	19	45575426	45575426	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	39	100	0	ENST00000303809.2:c.861G>T	p.Gln287His	p.Q287H	ENST00000303809	NM_145288.1	287	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS12653.1	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCTGGGG	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF401	.	.	ENSP00000302770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303809	Transcript	.	.	ENSG00000170684	15981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	tolerated(0.11)	.	ZN296_HUMAN	ZNF296	HGNC	Q8NEY2_HUMAN,Q8IX33_HUMAN	.	UPI000013C363	SNV	ZNF296,missense_variant,p.Gln287His,ENST00000303809,;CLASRP,downstream_gene_variant,,ENST00000391953,;CLASRP,downstream_gene_variant,,ENST00000221455,;CLASRP,downstream_gene_variant,,ENST00000591904,;CLASRP,downstream_gene_variant,,ENST00000544944,;CTB-179K24.3,downstream_gene_variant,,ENST00000586744,;CLASRP,downstream_gene_variant,,ENST00000587472,;CLASRP,downstream_gene_variant,,ENST00000592876,;CLASRP,downstream_gene_variant,,ENST00000588070,;CLASRP,downstream_gene_variant,,ENST00000585432,;CLASRP,downstream_gene_variant,,ENST00000585615,;CLASRP,downstream_gene_variant,,ENST00000391952,;	1076	100	79	SUCCESS
KLK13	26085	.	GRCh37	19	51563812	51563812	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	7	137	0	ENST00000595793.1:c.117C>T	p.Gly39=	p.G39=	ENST00000595793	NM_015596.1	39	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12822.1	117	MUTECT|MUSE	.	GTGTAGCCACC	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24271:SF3,hmmpanther:PTHR24271,PROSITE_profiles:PS50240	.	.	ENSP00000470555	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000595793	Transcript	.	.	ENSG00000167759	6361	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK13_HUMAN	KLK13	HGNC	Q5BQ99_HUMAN	.	UPI000004CA07	SNV	KLK13,synonymous_variant,p.%3D,ENST00000596955,;KLK13,synonymous_variant,p.%3D,ENST00000595547,;KLK13,synonymous_variant,p.%3D,ENST00000595793,;KLK13,intron_variant,,ENST00000335422,;KLK13,synonymous_variant,p.%3D,ENST00000156476,;KLK13,synonymous_variant,p.%3D,ENST00000376799,;KLK13,synonymous_variant,p.%3D,ENST00000601975,;KLK13,3_prime_UTR_variant,,ENST00000602090,;KLK13,3_prime_UTR_variant,,ENST00000441527,;	160	137	122	SUCCESS
ZNF471	57573	.	GRCh37	19	57027696	57027696	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs150191675	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	59	179	0	ENST00000308031.5:c.86A>C	p.Gln29Pro	p.Q29P	ENST00000308031	NM_020813.2	29	cAa/cCa	0	T:0.0002	.	.	.	.	C	Q/P	protein_coding	YES	CCDS12945.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCAATGGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF212,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	T:0	ENSP00000309161	.	3/5	.	.	.	.	.	.	.	.	rs150191675	3/5	PASS	ENST00000308031	Transcript	.	.	ENSG00000196263	23226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.01)	.	ZN471_HUMAN	ZNF471	HGNC	K7EPX1_HUMAN	.	UPI0000073465	SNV	ZNF471,missense_variant,p.Gln29Pro,ENST00000591537,;ZNF471,missense_variant,p.Gln29Pro,ENST00000308031,;ZNF471,missense_variant,p.Gln29Pro,ENST00000591759,;ZNF471,intron_variant,,ENST00000593197,;	219	179	120	SUCCESS
ZNF606	80095	.	GRCh37	19	58489957	58489957	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	49	154	0	ENST00000341164.4:c.2091A>G	p.Ala697=	p.A697=	ENST00000341164	NM_025027.3	697	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS12968.1	2091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGTGCAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF278,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000343617	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000341164	Transcript	.	.	ENSG00000166704	25879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN606_HUMAN	ZNF606	HGNC	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN	.	UPI000013C35B	SNV	ZNF606,synonymous_variant,p.%3D,ENST00000536132,;ZNF606,synonymous_variant,p.%3D,ENST00000341164,;ZNF606,downstream_gene_variant,,ENST00000551380,;C19orf18,upstream_gene_variant,,ENST00000314391,;ZNF606,3_prime_UTR_variant,,ENST00000550599,;	2712	154	107	SUCCESS
MUC16	94025	.	GRCh37	19	9056223	9056223	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1469725692	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	99	0	ENST00000397910.4:c.31223G>A	p.Gly10408Glu	p.G10408E	ENST00000397910	NM_024690.2	10408	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS54212.1	31223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCCCAGC	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	COSM3894048,COSM3894047	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	.	1,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Gly10408Glu,ENST00000397910,;	31427	99	66	SUCCESS
HORMAD1	84072	.	GRCh37	1	150676669	150676669	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	77	183	1	ENST00000361824.2:c.873A>G		p.X291_splice	ENST00000361824	NM_032132.4	291	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS967.1	873	RADIA|SOMATICSNIPER|VARSCANS	.	CTTGGTTCTGT	NONE	.	.	hmmpanther:PTHR21518:SF4,hmmpanther:PTHR21518	.	.	ENSP00000355167	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	SNV	HORMAD1,synonymous_variant,p.%3D,ENST00000361824,;HORMAD1,synonymous_variant,p.%3D,ENST00000368993,;HORMAD1,synonymous_variant,p.%3D,ENST00000322343,;HORMAD1,synonymous_variant,p.%3D,ENST00000368995,;HORMAD1,downstream_gene_variant,,ENST00000442853,;HORMAD1,downstream_gene_variant,,ENST00000368987,;RNU6-1042P,downstream_gene_variant,,ENST00000384204,;HORMAD1,splice_region_variant,,ENST00000470397,;HORMAD1,splice_region_variant,,ENST00000486497,;	979	184	283	SUCCESS
ZBTB7B	51043	.	GRCh37	1	154987493	154987493	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	73	0	ENST00000292176.2:c.357A>G	p.Pro119=	p.P119=	ENST00000292176		119	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS58030.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCAGCTGT	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF129,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000406286	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000417934	Transcript	.	.	ENSG00000160685	18668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT7B_HUMAN	ZBTB7B	HGNC	.	.	UPI0001A5EB6F	SNV	ZBTB7B,synonymous_variant,p.%3D,ENST00000535420,;ZBTB7B,synonymous_variant,p.%3D,ENST00000368426,;ZBTB7B,synonymous_variant,p.%3D,ENST00000292176,;ZBTB7B,synonymous_variant,p.%3D,ENST00000417934,;DCST2,downstream_gene_variant,,ENST00000368424,;ZBTB7B,non_coding_transcript_exon_variant,,ENST00000487542,;ZBTB7B,downstream_gene_variant,,ENST00000461530,;ZBTB7B,downstream_gene_variant,,ENST00000483226,;DCST2,downstream_gene_variant,,ENST00000485982,;DCST2,downstream_gene_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000467991,;	728	73	117	SUCCESS
MIB2	142678	.	GRCh37	1	1560565	1560565	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	38	0	ENST00000505820.2:c.1066G>C	p.Gly356Arg	p.G356R	ENST00000505820		356	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS41224.2	1066	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCTCGGTATG	NONE	.	.	hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202	.	.	ENSP00000426103	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,missense_variant,p.Gly342Arg,ENST00000355826,;MIB2,missense_variant,p.Gly150Arg,ENST00000514234,;MIB2,missense_variant,p.Gly241Arg,ENST00000378708,;MIB2,missense_variant,p.Gly299Arg,ENST00000360522,;MIB2,missense_variant,p.Gly255Arg,ENST00000504599,;MIB2,missense_variant,p.Gly356Arg,ENST00000520777,;MIB2,missense_variant,p.Gly356Arg,ENST00000505820,;MIB2,missense_variant,p.Gly299Arg,ENST00000357210,;MIB2,missense_variant,p.Gly299Arg,ENST00000378710,;MIB2,intron_variant,,ENST00000518681,;MIB2,intron_variant,,ENST00000378712,;MIB2,downstream_gene_variant,,ENST00000503789,;MIB2,downstream_gene_variant,,ENST00000510793,;MIB2,upstream_gene_variant,,ENST00000483015,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,missense_variant,p.Gly241Arg,ENST00000506488,;MIB2,missense_variant,p.Gly255Arg,ENST00000487053,;MIB2,splice_region_variant,,ENST00000489635,;MIB2,splice_region_variant,,ENST00000511502,;MIB2,splice_region_variant,,ENST00000467597,;MIB2,splice_region_variant,,ENST00000479659,;MIB2,splice_region_variant,,ENST00000508148,;MIB2,splice_region_variant,,ENST00000507229,;MIB2,upstream_gene_variant,,ENST00000470373,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,upstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,upstream_gene_variant,,ENST00000486072,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,downstream_gene_variant,,ENST00000508455,;	1083	38	34	SUCCESS
GPR37L1	9283	.	GRCh37	1	202097337	202097337	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	53	58	0	ENST00000367282.5:c.1099G>A	p.Val367Ile	p.V367I	ENST00000367282	NM_004767.3	367	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1420.1	1099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGTCTAC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24243:SF33,hmmpanther:PTHR24243,PROSITE_profiles:PS50262	.	.	ENSP00000356251	.	2/2	.	.	.	.	.	.	.	.	COSM311583	2/2	PASS	ENST00000367282	Transcript	.	.	ENSG00000170075	14923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.054)	.	tolerated(0.32)	1	ETBR2_HUMAN	GPR37L1	HGNC	.	.	UPI000013E92C	SNV	GPR37L1,missense_variant,p.Val367Ile,ENST00000367282,;	1205	58	98	SUCCESS
ATP2B4	493	.	GRCh37	1	203678666	203678666	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765757084	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	81	141	1	ENST00000357681.5:c.1795C>T	p.Arg599Cys	p.R599C	ENST00000357681	NM_001684.4	599	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1440.1	1795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGCAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000350310	.	11/21	.	.	.	.	.	.	.	.	rs765757084	11/21	PASS	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,missense_variant,p.Arg599Cys,ENST00000341360,;ATP2B4,missense_variant,p.Arg599Cys,ENST00000367218,;ATP2B4,missense_variant,p.Arg599Cys,ENST00000391954,;ATP2B4,missense_variant,p.Arg587Cys,ENST00000367219,;ATP2B4,missense_variant,p.Arg599Cys,ENST00000357681,;	2918	142	177	SUCCESS
SLC41A1	254428	.	GRCh37	1	205764544	205764544	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	46	141	0	ENST00000367137.3:c.1135G>A	p.Gly379Arg	p.G379R	ENST00000367137	NM_173854.4	379	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS30988.1	1135	RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCATTCA	NONE	.	.	hmmpanther:PTHR16228:SF23,hmmpanther:PTHR16228,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748	.	.	ENSP00000356105	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000367137	Transcript	.	.	ENSG00000133065	19429	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	tolerated(0.27)	.	S41A1_HUMAN	SLC41A1	HGNC	B2RMP2_HUMAN	.	UPI000013E1E6	SNV	SLC41A1,missense_variant,p.Gly379Arg,ENST00000367137,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000468057,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000484228,;	2150	141	224	SUCCESS
USH2A	7399	.	GRCh37	1	215914870	215914870	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	78	0	ENST00000307340.3:c.11558G>T	p.Gly3853Val	p.G3853V	ENST00000307340	NM_206933.2	3853	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31025.1	11558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACTCCACAA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	60/72	.	.	.	.	.	.	.	.	COSM3483430,COSM3483431	60/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	.	1,1	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Gly3853Val,ENST00000366943,;USH2A,missense_variant,p.Gly3853Val,ENST00000307340,;	11945	78	103	SUCCESS
CAPN8	388743	.	GRCh37	1	223842099	223842099	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	129	136	0	ENST00000366872.5:c.240G>A		p.X80_splice	ENST00000366872		80	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	.	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAACTCCTG	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF52,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	.	ENSP00000355837	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000366872	Transcript	.	.	ENSG00000203697	1485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN8_HUMAN	CAPN8	HGNC	.	.	UPI0001AE7978	SNV	CAPN8,synonymous_variant,p.%3D,ENST00000419193,;CAPN8,synonymous_variant,p.%3D,ENST00000366872,;CAPN8,synonymous_variant,p.%3D,ENST00000366873,;CAPN8,synonymous_variant,p.%3D,ENST00000467384,;	240	136	204	SUCCESS
COL16A1	1307	.	GRCh37	1	32133217	32133217	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1175110562	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	110	0	ENST00000373672.3:c.3316G>A	p.Glu1106Lys	p.E1106K	ENST00000373672	NM_001856.3	1106	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41297.1	3316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTCCCCCT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	52/71	.	.	.	.	.	.	.	.	.	52/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Glu1106Lys,ENST00000373672,;COL16A1,missense_variant,p.Glu1106Lys,ENST00000271069,;COL16A1,downstream_gene_variant,,ENST00000458715,;COL16A1,upstream_gene_variant,,ENST00000440437,;COL16A1,non_coding_transcript_exon_variant,,ENST00000468459,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000479100,;COL16A1,upstream_gene_variant,,ENST00000482910,;COL16A1,upstream_gene_variant,,ENST00000470799,;COL16A1,upstream_gene_variant,,ENST00000488897,;	3833	110	76	SUCCESS
UQCRH	7388	.	GRCh37	1	46775949	46775949	+	synonymous_variant	Silent	SNP	G	G	A	rs148062188	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	80	0	ENST00000311672.5:c.204G>A	p.Thr68=	p.T68=	ENST00000311672	NM_006004.2	68	acG/acA	0	A:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS30704.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGGAGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15336,Pfam_domain:PF02320,Gene3D:1.10.287.20,PIRSF_domain:PIRSF000019,Superfamily_domains:SSF81531	.	A:0.0006	ENSP00000309565	.	3/4	.	.	.	.	.	.	.	.	rs148062188,COSM3490298	3/4	PASS	ENST00000311672	Transcript	.	.	ENSG00000173660	12590	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	QCR6_HUMAN	UQCRH	HGNC	.	.	UPI0000137A5B	SNV	UQCRH,synonymous_variant,p.%3D,ENST00000311672,;UQCRH,non_coding_transcript_exon_variant,,ENST00000460947,;UQCRH,non_coding_transcript_exon_variant,,ENST00000489056,;UQCRH,non_coding_transcript_exon_variant,,ENST00000496387,;UQCRH,downstream_gene_variant,,ENST00000486951,;	340	80	63	SUCCESS
BCL10	8915	.	GRCh37	1	85742039	85742039	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	107	0	ENST00000370580.1:c.-4C>T		p.*2*	ENST00000370580	NM_003921.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS704.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGGAGGC	NONE	.	.	.	.	.	ENSP00000359612	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370580	Transcript	.	.	ENSG00000142867	989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL10_HUMAN	BCL10	HGNC	.	.	UPI000012682F	SNV	BCL10,5_prime_UTR_variant,,ENST00000370580,;RP11-131L23.1,upstream_gene_variant,,ENST00000426125,;RP11-131L23.1,upstream_gene_variant,,ENST00000427819,;	735	107	88	SUCCESS
REM1	28954	.	GRCh37	20	30064277	30064277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	55	154	0	ENST00000201979.2:c.29A>G	p.Lys10Arg	p.K10R	ENST00000201979	NM_014012.5	10	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS13181.1	29	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAAGACCC	NONE	.	.	hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,PIRSF_domain:PIRSF038017	.	.	ENSP00000201979	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000201979	Transcript	.	.	ENSG00000088320	15922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.46)	.	REM1_HUMAN	REM1	HGNC	.	.	UPI0000073CEB	SNV	REM1,missense_variant,p.Lys10Arg,ENST00000201979,;DEFB124,upstream_gene_variant,,ENST00000317676,;DEFB124,intron_variant,,ENST00000481595,;	322	154	131	SUCCESS
SLC12A5	57468	.	GRCh37	20	44678266	44678266	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	71	0	ENST00000454036.2:c.2087A>T	p.Gln696Leu	p.Q696L	ENST00000454036	NM_001134771.1	696	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46610.1	2087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGCTGC	NONE	.	.	hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000387694	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious(0)	.	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,missense_variant,p.Gln696Leu,ENST00000454036,;SLC12A5,missense_variant,p.Gln673Leu,ENST00000243964,;SLC12A5,3_prime_UTR_variant,,ENST00000539566,;	2136	71	41	SUCCESS
COL20A1	57642	.	GRCh37	20	61948009	61948009	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	48	0	ENST00000358894.6:c.2629C>T	p.Leu877Phe	p.L877F	ENST00000358894	NM_020882.2	877	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46628.1	2629	MUTECT|MUSE|VARSCANS	.	TCACGCTCTTC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00210	.	.	ENSP00000351767	.	21/36	.	.	.	.	.	.	.	.	.	21/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,missense_variant,p.Leu877Phe,ENST00000358894,;COL20A1,missense_variant,p.Leu884Phe,ENST00000422202,;COL20A1,missense_variant,p.Leu877Phe,ENST00000326996,;COL20A1,missense_variant,p.Leu884Phe,ENST00000435874,;COL20A1,upstream_gene_variant,,ENST00000415763,;COL20A1,upstream_gene_variant,,ENST00000455906,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	2729	48	38	SUCCESS
SMIM11	0	.	GRCh37	21	35751763	35751763	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	36	91	0	ENST00000399292.3:c.-41T>C		p.*14*	ENST00000399292	NM_058182.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33550.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGTTGGGG	NONE	.	.	.	.	.	ENSP00000382234	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000399295	Transcript	.	.	ENSG00000205670	1293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIM11_HUMAN	SMIM11	HGNC	.	.	UPI00001286A7	SNV	SMIM11,5_prime_UTR_variant,,ENST00000399299,;SMIM11,5_prime_UTR_variant,,ENST00000399292,;SMIM11,5_prime_UTR_variant,,ENST00000399295,;AP000320.6,upstream_gene_variant,,ENST00000440403,;SMIM11,non_coding_transcript_exon_variant,,ENST00000495363,;SMIM11,non_coding_transcript_exon_variant,,ENST00000481710,;SMIM11,non_coding_transcript_exon_variant,,ENST00000489469,;SMIM11,non_coding_transcript_exon_variant,,ENST00000474455,;	330	91	81	SUCCESS
XBP1	7494	.	GRCh37	22	29196386	29196386	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	50	74	0	ENST00000216037.6:c.127C>T	p.Gln43Ter	p.Q43*	ENST00000216037	NM_005080.3	43	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS13847.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGGGCTG	NONE	.	.	hmmpanther:PTHR13301	.	.	ENSP00000216037	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000216037	Transcript	.	.	ENSG00000100219	12801	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XBP1_HUMAN	XBP1	HGNC	.	.	UPI000006FC05	SNV	XBP1,stop_gained,p.Gln43Ter,ENST00000403532,;XBP1,stop_gained,p.Gln43Ter,ENST00000216037,;XBP1,stop_gained,p.Gln43Ter,ENST00000344347,;XBP1,upstream_gene_variant,,ENST00000405219,;CTA-292E10.6,upstream_gene_variant,,ENST00000418292,;CTA-292E10.6,upstream_gene_variant,,ENST00000458080,;CTA-292E10.6,upstream_gene_variant,,ENST00000585003,;CTA-292E10.6,upstream_gene_variant,,ENST00000451486,;XBP1,non_coding_transcript_exon_variant,,ENST00000482720,;XBP1,upstream_gene_variant,,ENST00000484256,;	200	75	71	SUCCESS
SLC35F5	80255	.	GRCh37	2	114500441	114500441	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776435612	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	81	0	ENST00000245680.2:c.578G>T	p.Arg193Leu	p.R193L	ENST00000245680	NM_025181.2	193	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2119.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACGAGAC	NONE	byFrequency	.	hmmpanther:PTHR23051:SF0,hmmpanther:PTHR23051	.	.	ENSP00000245680	.	7/16	.	.	.	.	.	.	.	.	rs776435612,COSM4084337	7/16	PASS	ENST00000245680	Transcript	.	.	ENSG00000115084	23617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	.	tolerated(0.13)	0,1	S35F5_HUMAN	SLC35F5	HGNC	.	.	UPI000004C648	SNV	SLC35F5,missense_variant,p.Arg187Leu,ENST00000409342,;SLC35F5,missense_variant,p.Arg193Leu,ENST00000245680,;SLC35F5,missense_variant,p.Arg187Leu,ENST00000409106,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000498768,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000460863,;	992	81	49	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098804	178098804	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	78	0	ENST00000397062.3:c.241G>C	p.Gly81Arg	p.G81R	ENST00000397062	NM_006164.4	81	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS42782.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACCTGTCT	CODON|p.G81D|c.242G>A|6,CODON|p.G81V|c.242G>T|7,BUFFER|p.E82D|c.246A>C|3,BUFFER|p.E82D|c.246A>T|6,BUFFER|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11,BUFFER|p.D77V|c.230A>T|5,BUFFER|p.D77G|c.230A>G|6	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM1009929,COSM717624	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,missense_variant,p.Ala65Pro,ENST00000449627,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000423513,;NFE2L2,missense_variant,p.Gly81Arg,ENST00000397062,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000446151,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000588123,;NFE2L2,missense_variant,p.Gly80Arg,ENST00000586532,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000421929,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000464747,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000448782,;NFE2L2,missense_variant,p.Gly65Arg,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	796	78	48	SUCCESS
SLC39A10	57181	.	GRCh37	2	196573489	196573489	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	133	0	ENST00000359634.5:c.1496T>G	p.Leu499Arg	p.L499R	ENST00000359634	NM_020342.2	499	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS33353.1	1496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTTGTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000386766	.	5/10	.	.	.	.	.	.	.	.	COSM4089794	5/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Leu499Arg,ENST00000409086,;SLC39A10,missense_variant,p.Leu49Arg,ENST00000541054,;SLC39A10,missense_variant,p.Leu499Arg,ENST00000359634,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;SLC39A10,non_coding_transcript_exon_variant,,ENST00000465851,;SLC39A10,downstream_gene_variant,,ENST00000444421,;	1771	133	108	SUCCESS
NBEAL1	65065	.	GRCh37	2	203996824	203996824	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	101	327	0	ENST00000449802.1:c.3606T>G	p.Ile1202Met	p.I1202M	ENST00000449802	NM_001114132.1	1202	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS46495.1	3606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATTAAAAA	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743	.	.	ENSP00000399903	.	25/55	.	.	.	.	.	.	.	.	.	25/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.05)	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,missense_variant,p.Ile1202Met,ENST00000449802,;	3939	327	221	SUCCESS
CPS1	1373	.	GRCh37	2	211465358	211465358	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	59	197	0	ENST00000233072.5:c.1629T>C	p.Ala543=	p.A543=	ENST00000233072	NM_001875.4	543	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46505.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTACGGA	NONE	.	.	hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Superfamily_domains:SSF52440	.	.	ENSP00000402608	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,synonymous_variant,p.%3D,ENST00000430249,;CPS1,synonymous_variant,p.%3D,ENST00000233072,;CPS1,synonymous_variant,p.%3D,ENST00000451903,;CPS1,upstream_gene_variant,,ENST00000467353,;	1702	197	118	SUCCESS
ABCA12	26154	.	GRCh37	2	215880217	215880217	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	45	160	0	ENST00000272895.7:c.1953del	p.Tyr651Ter	p.Y651*	ENST00000272895	NM_173076.2	651	taC/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS33372.1	1953	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCTTGTATGT	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	15/53	.	.	.	.	.	.	.	.	.	15/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	deletion	ABCA12,frameshift_variant,p.Tyr333Ter,ENST00000389661,;ABCA12,frameshift_variant,p.Tyr651Ter,ENST00000272895,;	2173	160	155	SUCCESS
GEMIN6	79833	.	GRCh37	2	39006178	39006178	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1558337463	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	65	177	0	ENST00000281950.3:c.46A>G	p.Ile16Val	p.I16V	ENST00000281950	NM_024775.9	16	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1799.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACATTTAC	NONE	.	.	hmmpanther:PTHR14710,Pfam_domain:PF06372	.	.	ENSP00000281950	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000281950	Transcript	.	.	ENSG00000152147	20044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	GEMI6_HUMAN	GEMIN6	HGNC	.	.	UPI000006E325	SNV	GEMIN6,missense_variant,p.Ile16Val,ENST00000281950,;GEMIN6,missense_variant,p.Ile16Val,ENST00000409566,;GEMIN6,missense_variant,p.Ile16Val,ENST00000409011,;	162	177	136	SUCCESS
MCM2	4171	.	GRCh37	3	127336848	127336848	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	50	0	ENST00000265056.7:c.1937A>G	p.Asn646Ser	p.N646S	ENST00000265056	NM_004526.3	646	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3043.1	1937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAACGTGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00350,Pfam_domain:PF00493,Gene3D:3.40.50.300,hmmpanther:PTHR11630:SF44,hmmpanther:PTHR11630,PROSITE_profiles:PS50051	.	.	ENSP00000265056	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000265056	Transcript	.	.	ENSG00000073111	6944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MCM2_HUMAN	MCM2	HGNC	Q9BWF4_HUMAN,C9JZ21_HUMAN,C9J013_HUMAN	.	UPI00001A3E4E	SNV	MCM2,missense_variant,p.Asn646Ser,ENST00000265056,;MCM2,missense_variant,p.Asn578Ser,ENST00000491422,;MCM2,non_coding_transcript_exon_variant,,ENST00000468414,;MCM2,3_prime_UTR_variant,,ENST00000474964,;MCM2,intron_variant,,ENST00000477668,;MCM2,downstream_gene_variant,,ENST00000473785,;	2181	50	33	SUCCESS
COPG1	22820	.	GRCh37	3	128987352	128987352	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774093498	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	81	0	ENST00000314797.6:c.1663A>T	p.Ile555Phe	p.I555F	ENST00000314797	NM_016128.3	555	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS33851.1	1663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCATCCCT	NONE	.	.	PIRSF_domain:PIRSF037093,Gene3D:1.25.10.10,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	.	ENSP00000325002	.	17/24	.	.	.	.	.	.	.	.	rs774093498	17/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.02)	.	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,missense_variant,p.Ile555Phe,ENST00000314797,;COPG1,intron_variant,,ENST00000509889,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,downstream_gene_variant,,ENST00000513410,;COPG1,downstream_gene_variant,,ENST00000504547,;COPG1,upstream_gene_variant,,ENST00000512034,;COPG1,upstream_gene_variant,,ENST00000514478,;	1767	81	67	SUCCESS
BCHE	590	.	GRCh37	3	165548042	165548042	+	synonymous_variant	Silent	SNP	C	C	T	rs773199170	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	72	198	0	ENST00000264381.3:c.780G>A	p.Ala260=	p.A260=	ENST00000264381	NM_000055.2	260	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3198.1	780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCGCCCA	NONE	byFrequency	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559:SF154,hmmpanther:PTHR11559	.	.	ENSP00000264381	.	2/4	.	.	.	.	.	.	.	.	rs773199170	2/4	PASS	ENST00000264381	Transcript	.	.	ENSG00000114200	983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHLE_HUMAN	BCHE	HGNC	Q96HL2_HUMAN,F8WF14_HUMAN,D3DNN4_HUMAN	.	UPI0000127866	SNV	BCHE,synonymous_variant,p.%3D,ENST00000264381,;BCHE,intron_variant,,ENST00000540653,;BCHE,intron_variant,,ENST00000479451,;BCHE,intron_variant,,ENST00000488954,;BCHE,synonymous_variant,p.%3D,ENST00000482958,;BCHE,synonymous_variant,p.%3D,ENST00000497011,;	947	198	173	SUCCESS
ITGA9	3680	.	GRCh37	3	37670934	37670934	+	intron_variant	Intron	SNP	G	G	A	rs758021693	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	18	54	1	ENST00000264741.5:c.1839+107G>A		p.*613*	ENST00000264741	NM_002207.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2669.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGACCGCAGCC	NONE	byFrequency	.	.	.	.	ENSP00000264741	.	.	.	.	.	.	.	.	.	.	rs758021693	.	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	.	.	MODIFIER	16/27	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,3_prime_UTR_variant,,ENST00000422441,;ITGA9,intron_variant,,ENST00000264741,;	.	56	34	SUCCESS
DLEC1	9940	.	GRCh37	3	38127869	38127870	+	splice_donor_variant	Splice_Site	DEL	GT	GT	-	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	136	0	ENST00000308059.6:c.1572+2_1572+3del		p.X524_splice	ENST00000308059		524		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2672.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCAAGGTGAGTG	NONE	.	.	.	.	.	ENSP00000308597	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	1	.	HIGH	9/36	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	deletion	DLEC1,splice_donor_variant,,ENST00000308059,;DLEC1,splice_donor_variant,,ENST00000346219,;DLEC1,splice_donor_variant,,ENST00000452631,;DLEC1,downstream_gene_variant,,ENST00000469151,;DLEC1,splice_donor_variant,,ENST00000440294,;DLEC1,intron_variant,,ENST00000447130,;	.	136	110	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28931588	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	161	0	ENST00000349496.5:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349496	NM_001904.3	32	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2694.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGACTCT	SITE|p.D32N|c.94G>A|92,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5661,COSM5668,COSM5672	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.686)	.	deleterious(0.05)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Asn,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	374	161	120	SUCCESS
HHIP	64399	.	GRCh37	4	145567951	145567951	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	77	193	0	ENST00000296575.3:c.124G>T	p.Gly42Trp	p.G42W	ENST00000296575	NM_022475.2	42	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS3762.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGGGAAC	NONE	.	.	Pfam_domain:PF03024,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27	.	.	ENSP00000296575	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000296575	Transcript	1	.	ENSG00000164161	14866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	HHIP_HUMAN	HHIP	HGNC	.	.	UPI0000071302	SNV	HHIP,missense_variant,p.Gly42Trp,ENST00000434550,;HHIP,missense_variant,p.Gly42Trp,ENST00000296575,;HHIP-AS1,intron_variant,,ENST00000512359,;HHIP-AS1,upstream_gene_variant,,ENST00000503066,;HHIP-AS1,upstream_gene_variant,,ENST00000508269,;HHIP,upstream_gene_variant,,ENST00000505891,;HHIP,upstream_gene_variant,,ENST00000511314,;HHIP,upstream_gene_variant,,ENST00000515080,;	779	193	158	SUCCESS
FIP1L1	81608	.	GRCh37	4	54256024	54256024	+	synonymous_variant	Silent	SNP	A	A	G	rs755184908	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	111	0	ENST00000337488.6:c.381A>G	p.Arg127=	p.R127=	ENST00000337488	NM_030917.3	127	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3491.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAGTTTA	NONE	.	.	hmmpanther:PTHR13484	.	.	ENSP00000336752	.	6/18	.	.	.	.	.	.	.	.	rs755184908	6/18	PASS	ENST00000337488	Transcript	1	.	ENSG00000145216	19124	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIP1_HUMAN	FIP1L1	HGNC	.	.	UPI0000035FBF	SNV	FIP1L1,synonymous_variant,p.%3D,ENST00000358575,;FIP1L1,synonymous_variant,p.%3D,ENST00000337488,;FIP1L1,synonymous_variant,p.%3D,ENST00000507922,;FIP1L1,synonymous_variant,p.%3D,ENST00000507166,;FIP1L1,synonymous_variant,p.%3D,ENST00000306932,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000511376,;FIP1L1,downstream_gene_variant,,ENST00000510668,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513975,;FIP1L1,intron_variant,,ENST00000514543,;	575	111	87	SUCCESS
GK2	2712	.	GRCh37	4	80328951	80328951	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	60	138	0	ENST00000358842.3:c.404A>T	p.Asn135Ile	p.N135I	ENST00000358842	NM_033214.2	135	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS3585.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGTTACTA	NONE	.	.	Superfamily_domains:SSF53067,PIRSF_domain:PIRSF000538,Gene3D:3.30.420.40,Pfam_domain:PF00370,TIGRFAM_domain:TIGR01311,hmmpanther:PTHR10196:SF46,hmmpanther:PTHR10196	.	.	ENSP00000351706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358842	Transcript	.	.	ENSG00000196475	4291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0.02)	.	GLPK2_HUMAN	GK2	HGNC	.	.	UPI000011E629	SNV	GK2,missense_variant,p.Asn135Ile,ENST00000358842,;	422	138	125	SUCCESS
WDFY3	23001	.	GRCh37	4	85663028	85663028	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	89	231	1	ENST00000295888.4:c.6120A>G	p.Val2040=	p.V2040=	ENST00000295888	NM_014991.4	2040	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3609.1	6120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAATACCTG	NONE	.	.	hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	38/68	.	.	.	.	.	.	.	.	.	38/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,synonymous_variant,p.%3D,ENST00000295888,;WDFY3,synonymous_variant,p.%3D,ENST00000322366,;WDFY3,upstream_gene_variant,,ENST00000504839,;	6528	232	208	SUCCESS
SLC6A19	340024	.	GRCh37	5	1221377	1221377	+	synonymous_variant	Silent	SNP	C	C	T	rs763114840	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	50	0	ENST00000304460.10:c.1650C>T	p.Phe550=	p.F550=	ENST00000304460	NM_001003841.2	550	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS34130.1	1650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCGTGGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000305302	.	11/12	.	.	.	.	.	.	.	.	rs763114840,COSM3608019	11/12	PASS	ENST00000304460	Transcript	1	.	ENSG00000174358	27960	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S6A19_HUMAN	SLC6A19	HGNC	B3KVZ8_HUMAN	.	UPI0000401AF8	SNV	SLC6A19,synonymous_variant,p.%3D,ENST00000304460,;SLC6A18,upstream_gene_variant,,ENST00000324642,;SLC6A18,upstream_gene_variant,,ENST00000296821,;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;SLC6A18,upstream_gene_variant,,ENST00000513607,;	1706	50	50	SUCCESS
IGIP	492311	.	GRCh37	5	139507500	139507500	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	87	0	ENST00000333305.3:c.-562A>G		p.*188*	ENST00000333305	NM_001007189.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34244.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACAAATAA	NONE	.	.	.	.	.	ENSP00000327344	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333305	Transcript	.	.	ENSG00000182700	33847	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGIP_HUMAN	IGIP	HGNC	.	.	UPI000046D390	SNV	IGIP,5_prime_UTR_variant,,ENST00000333305,;	1980	87	98	SUCCESS
RBM27	54439	.	GRCh37	5	145610267	145610267	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	48	108	0	ENST00000265271.5:c.637A>G	p.Ser213Gly	p.S213G	ENST00000265271	NM_018989.1	213	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS43378.1	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGAGTTCC	NONE	.	.	hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398	.	.	ENSP00000265271	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,missense_variant,p.Ser213Gly,ENST00000265271,;RBM27,missense_variant,p.Ser213Gly,ENST00000506502,;	803	108	148	SUCCESS
CTC-340A15.2	0	.	GRCh37	5	164028348	164028348	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs577485667	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	25	0	ENST00000486913.3:n.526G>A		p.*176*	ENST00000486913				0	.	A:0	.	A:0	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGTACAG	NONE	by1000G	.	.	A:0	.	.	A:0	3/3	.	.	.	.	.	.	.	.	rs577485667	3/3	PASS	ENST00000486913	Transcript	.	A:0.0002	ENSG00000241956	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	.	CTC-340A15.2	Clone_based_vega_gene	.	.	.	SNV	CTC-340A15.2,splice_region_variant,,ENST00000519750,;CTC-340A15.2,non_coding_transcript_exon_variant,,ENST00000486913,;CTC-340A15.2,intron_variant,,ENST00000522646,;CTC-340A15.2,intron_variant,,ENST00000523704,;CTC-340A15.2,intron_variant,,ENST00000519570,;CTC-340A15.2,intron_variant,,ENST00000517508,;CTC-340A15.2,intron_variant,,ENST00000522303,;CTC-340A15.1,non_coding_transcript_exon_variant,,ENST00000522454,;	526	25	26	SUCCESS
CDH18	1016	.	GRCh37	5	19473502	19473502	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762348492	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	49	150	0	ENST00000274170.4:c.2206C>A	p.Gln736Lys	p.Q736K	ENST00000274170		736	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS3889.1	2206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTGAAGAG	NONE	.	.	Pfam_domain:PF01049,Gene3D:4.10.900.10,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	.	.	ENSP00000425093	.	15/15	.	.	.	.	.	.	.	.	rs762348492,COSM3013243,COSM3013242	15/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.412)	.	deleterious(0.02)	0,1,1	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Gln736Lys,ENST00000382275,;CDH18,missense_variant,p.Gln736Lys,ENST00000274170,;CDH18,missense_variant,p.Gln736Lys,ENST00000507958,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	3197	150	161	SUCCESS
CDH9	1007	.	GRCh37	5	26881347	26881347	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	57	114	0	ENST00000231021.4:c.2268C>A	p.Leu756=	p.L756=	ENST00000231021	NM_016279.3	756	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3893.1	2268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGAGAGA	NONE	.	.	Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,synonymous_variant,p.%3D,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2441	114	141	SUCCESS
CDH9	1007	.	GRCh37	5	26881348	26881348	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	58	114	0	ENST00000231021.4:c.2267T>A	p.Leu756His	p.L756H	ENST00000231021	NM_016279.3	756	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS3893.1	2267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGAGAGAT	NONE	.	.	Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	tolerated(0.55)	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Leu756His,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2440	114	143	SUCCESS
SLC45A2	51151	.	GRCh37	5	33984462	33984462	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	67	0	ENST00000296589.4:c.227T>A	p.Leu76His	p.L76H	ENST00000296589	NM_016180.3	76	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS3901.1	227	MUTECT|MUSE	.	GGCTGAGGAAC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF13347,Gene3D:1.20.1250.20,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF28	.	.	ENSP00000296589	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000296589	Transcript	1	.	ENSG00000164175	16472	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	S45A2_HUMAN	SLC45A2	HGNC	.	.	UPI00001AEC19	SNV	SLC45A2,missense_variant,p.Leu76His,ENST00000342059,;SLC45A2,missense_variant,p.Leu76His,ENST00000382102,;SLC45A2,missense_variant,p.Leu76His,ENST00000345083,;SLC45A2,missense_variant,p.Leu76His,ENST00000509381,;SLC45A2,missense_variant,p.Leu76His,ENST00000296589,;SLC45A2,upstream_gene_variant,,ENST00000510600,;AMACR,downstream_gene_variant,,ENST00000502637,;AMACR,downstream_gene_variant,,ENST00000382085,;AMACR,downstream_gene_variant,,ENST00000382072,;AMACR,downstream_gene_variant,,ENST00000335606,;AMACR,downstream_gene_variant,,ENST00000514195,;SLC45A2,non_coding_transcript_exon_variant,,ENST00000505056,;AMACR,downstream_gene_variant,,ENST00000506639,;RP11-1084J3.4,downstream_gene_variant,,ENST00000382079,;	374	67	80	SUCCESS
GRM1	2911	.	GRCh37	6	146480653	146480653	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749080627	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	35	95	0	ENST00000282753.1:c.870C>A	p.Phe290Leu	p.F290L	ENST00000282753	NM_001278067.1	290	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS5209.1	870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCTGTGA	NONE	.	.	hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000354896	.	3/9	.	.	.	.	.	.	.	.	rs749080627	3/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,missense_variant,p.Phe290Leu,ENST00000282753,;GRM1,missense_variant,p.Phe290Leu,ENST00000392299,;GRM1,missense_variant,p.Phe290Leu,ENST00000361719,;GRM1,missense_variant,p.Phe290Leu,ENST00000507907,;GRM1,missense_variant,p.Phe290Leu,ENST00000355289,;GRM1,missense_variant,p.Phe290Leu,ENST00000492807,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;	1340	95	37	SUCCESS
ACAT2	39	.	GRCh37	6	160188168	160188168	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764262503	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	48	137	0	ENST00000367048.4:c.322A>G	p.Ile108Val	p.I108V	ENST00000367048	NM_005891.2	108	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5268.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGATAGGA	NONE	.	.	hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,Gene3D:3.40.47.10,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000356015	.	3/9	.	.	.	.	.	.	.	.	rs764262503	3/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.56)	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,missense_variant,p.Ile137Val,ENST00000541436,;ACAT2,missense_variant,p.Ile108Val,ENST00000367048,;SOD2,upstream_gene_variant,,ENST00000546087,;ACAT2,non_coding_transcript_exon_variant,,ENST00000467951,;SOD2,upstream_gene_variant,,ENST00000535372,;	2082	137	54	SUCCESS
MLLT4	0	.	GRCh37	6	168319445	168319445	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	41	110	0	ENST00000447894.2:c.2719G>T	p.Glu907Ter	p.E907*	ENST00000447894		907	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47517.1	2719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGAAAAC	NONE	.	.	hmmpanther:PTHR10398,PROSITE_profiles:PS51126	.	.	ENSP00000375956	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000392108	Transcript	.	.	ENSG00000130396	7137	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAD_HUMAN	MLLT4	HGNC	.	.	UPI0000711FD9	SNV	MLLT4,stop_gained,p.Glu914Ter,ENST00000351017,;MLLT4,stop_gained,p.Glu907Ter,ENST00000447894,;MLLT4,stop_gained,p.Glu907Ter,ENST00000392108,;MLLT4,stop_gained,p.Glu891Ter,ENST00000392112,;MLLT4,stop_gained,p.Glu70Ter,ENST00000497596,;MLLT4,stop_gained,p.Glu907Ter,ENST00000344191,;MLLT4,stop_gained,p.Glu906Ter,ENST00000400822,;MLLT4,stop_gained,p.Glu907Ter,ENST00000366806,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;	2861	110	44	SUCCESS
NUP153	9972	.	GRCh37	6	17628999	17628999	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	85	80	0	ENST00000262077.2:c.3431A>G	p.Glu1144Gly	p.E1144G	ENST00000262077	NM_001278210.1	1144	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4541.1	3431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTCATCT	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	.	.	ENSP00000262077	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0.02)	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,missense_variant,p.Glu1175Gly,ENST00000537253,;NUP153,missense_variant,p.Glu1144Gly,ENST00000262077,;	3431	80	119	SUCCESS
DNAH8	1769	.	GRCh37	6	38754613	38754613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	188	57	137	1	ENST00000359357.3:c.1817T>C	p.Leu606Ser	p.L606S	ENST00000359357		606	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	.	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTTGGAAG	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	16/91	.	.	.	.	.	.	.	.	.	16/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Leu606Ser,ENST00000359357,;DNAH8,missense_variant,p.Leu811Ser,ENST00000327475,;DNAH8,missense_variant,p.Leu606Ser,ENST00000441566,;DNAH8,missense_variant,p.Leu823Ser,ENST00000449981,;	2071	138	245	SUCCESS
MRPL14	64928	.	GRCh37	6	44081735	44081735	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs770659477	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	100	0	ENST00000372014.3:c.283C>T	p.Arg95Ter	p.R95*	ENST00000372014	NM_032111.2	95	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS34460.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGGGGGC	NONE	.	.	hmmpanther:PTHR21037,Pfam_domain:PF00238,Gene3D:2.40.150.20,Superfamily_domains:SSF50193	.	.	ENSP00000361084	.	3/3	.	.	.	.	.	.	.	.	rs770659477	3/3	PASS	ENST00000372014	Transcript	.	.	ENSG00000180992	14279	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM14_HUMAN	MRPL14	HGNC	.	.	UPI00000467E3	SNV	MRPL14,stop_gained,p.Arg95Ter,ENST00000372014,;	415	100	178	SUCCESS
MANEA	79694	.	GRCh37	6	96034647	96034647	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1353903169	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	54	146	0	ENST00000358812.4:c.332A>G	p.Tyr111Cys	p.Y111C	ENST00000358812	NM_024641.3	111	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5032.1	332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTATGGAA	NONE	.	.	hmmpanther:PTHR13572:SF1,hmmpanther:PTHR13572	.	.	ENSP00000351669	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000358812	Transcript	.	.	ENSG00000172469	21072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	MANEA_HUMAN	MANEA	HGNC	.	.	UPI000020DF99	SNV	MANEA,missense_variant,p.Tyr111Cys,ENST00000369293,;MANEA,missense_variant,p.Tyr111Cys,ENST00000358812,;MANEA,upstream_gene_variant,,ENST00000474553,;	466	146	63	SUCCESS
RELN	5649	.	GRCh37	7	103214576	103214576	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	48	165	0	ENST00000428762.1:c.4474G>A	p.Glu1492Lys	p.E1492K	ENST00000428762	NM_005045.3	1492	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47680.1	4474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCCCTTT	NONE	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	30/65	.	.	.	.	.	.	.	.	.	30/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0.01)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Glu1492Lys,ENST00000424685,;RELN,missense_variant,p.Glu1492Lys,ENST00000428762,;RELN,missense_variant,p.Glu1492Lys,ENST00000343529,;	4634	165	112	SUCCESS
RINT1	60561	.	GRCh37	7	105183036	105183036	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	61	183	0	ENST00000257700.2:c.455T>A	p.Ile152Asn	p.I152N	ENST00000257700	NM_021930.4	152	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS34726.1	455	RADIA|MUTECT|MUSE	.	CCAGATTGAAG	NONE	.	.	hmmpanther:PTHR13520:SF0,hmmpanther:PTHR13520	.	.	ENSP00000257700	.	4/15	.	.	.	.	.	.	.	.	COSM76239	4/15	PASS	ENST00000257700	Transcript	.	.	ENSG00000135249	21876	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.738)	.	deleterious(0)	1	RINT1_HUMAN	RINT1	HGNC	.	.	UPI000020F898	SNV	RINT1,missense_variant,p.Ile121Asn,ENST00000493041,;RINT1,missense_variant,p.Ile152Asn,ENST00000257700,;RINT1,downstream_gene_variant,,ENST00000477285,;RINT1,3_prime_UTR_variant,,ENST00000467392,;RINT1,3_prime_UTR_variant,,ENST00000497979,;RINT1,non_coding_transcript_exon_variant,,ENST00000493258,;RINT1,downstream_gene_variant,,ENST00000482041,;	686	183	131	SUCCESS
THSD7A	221981	.	GRCh37	7	11416274	11416274	+	synonymous_variant	Silent	SNP	T	T	C	rs1283722519	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	37	50	0	ENST00000423059.4:c.4812A>G	p.Leu1604=	p.L1604=	ENST00000423059	NM_015204.2	1604	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47543.1	4812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTTAGTCT	NONE	.	.	hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8	.	.	ENSP00000406482	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,synonymous_variant,p.%3D,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;AC004538.3,intron_variant,,ENST00000599875,;AC004538.3,intron_variant,,ENST00000421121,;AC004538.3,intron_variant,,ENST00000428967,;AC004538.3,intron_variant,,ENST00000428533,;AC004538.3,upstream_gene_variant,,ENST00000595972,;THSD7A,non_coding_transcript_exon_variant,,ENST00000408005,;	5064	50	57	SUCCESS
GCC1	79571	.	GRCh37	7	127222825	127222825	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	39	97	0	ENST00000321407.2:c.1571T>G	p.Leu524Arg	p.L524R	ENST00000321407	NM_024523.5	524	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5796.1	1571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAAGCTGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25	.	.	ENSP00000318821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321407	Transcript	.	.	ENSG00000179562	19095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	deleterious(0)	.	GCC1_HUMAN	GCC1	HGNC	A4D0Z4_HUMAN	.	UPI0000072BA8	SNV	GCC1,missense_variant,p.Leu524Arg,ENST00000321407,;GCC1,downstream_gene_variant,,ENST00000497650,;	1996	97	82	SUCCESS
TMEM140	55281	.	GRCh37	7	134849312	134849312	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	11	109	0	ENST00000275767.3:c.119C>G	p.Thr40Ser	p.T40S	ENST00000275767	NM_018295.4	40	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS5837.1	119	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACTGACC	NONE	.	.	Pfam_domain:PF14985,hmmpanther:PTHR16103:SF0,hmmpanther:PTHR16103	.	.	ENSP00000275767	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000275767	Transcript	.	.	ENSG00000146859	21870	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.108)	.	deleterious(0.04)	.	TM140_HUMAN	TMEM140	HGNC	.	.	UPI000045760C	SNV	TMEM140,missense_variant,p.Thr40Ser,ENST00000275767,;C7orf49,downstream_gene_variant,,ENST00000424142,;C7orf49,downstream_gene_variant,,ENST00000430372,;C7orf49,downstream_gene_variant,,ENST00000393114,;C7orf49,downstream_gene_variant,,ENST00000483029,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000477820,;C7orf49,downstream_gene_variant,,ENST00000472428,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;C7orf49,downstream_gene_variant,,ENST00000481410,;	342	109	97	SUCCESS
SUMF2	25870	.	GRCh37	7	56147312	56147312	+	synonymous_variant	Silent	SNP	G	G	A	rs199542933	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	44	146	0	ENST00000342190.6:c.825G>A	p.Pro275=	p.P275=	ENST00000342190	NM_001130069.2	275	ccG/ccA	0	A:0.003	A:0.0015	.	A:0.0014	.	A	P	protein_coding	YES	CCDS47589.1	825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGGTGG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000341938	A:0	8/8	.	.	.	.	.	.	.	.	rs199542933	8/8	PASS	ENST00000342190	Transcript	.	A:0.0006	ENSG00000129103	20415	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	SUMF2	HGNC	Q75LP3_HUMAN,F8WA42_HUMAN	.	UPI0001AE7021	SNV	SUMF2,missense_variant,p.Arg344Gln,ENST00000413756,;SUMF2,synonymous_variant,p.%3D,ENST00000342190,;SUMF2,3_prime_UTR_variant,,ENST00000275607,;SUMF2,3_prime_UTR_variant,,ENST00000395435,;SUMF2,3_prime_UTR_variant,,ENST00000437307,;SUMF2,3_prime_UTR_variant,,ENST00000395436,;SUMF2,3_prime_UTR_variant,,ENST00000434526,;PHKG1,downstream_gene_variant,,ENST00000432123,;SUMF2,downstream_gene_variant,,ENST00000413952,;SUMF2,downstream_gene_variant,,ENST00000451338,;PHKG1,downstream_gene_variant,,ENST00000452681,;PHKG1,downstream_gene_variant,,ENST00000446428,;PHKG1,downstream_gene_variant,,ENST00000297373,;PHKG1,downstream_gene_variant,,ENST00000537360,;PHKG1,downstream_gene_variant,,ENST00000489604,;SUMF2,3_prime_UTR_variant,,ENST00000452216,;SUMF2,3_prime_UTR_variant,,ENST00000447501,;SUMF2,3_prime_UTR_variant,,ENST00000423763,;SUMF2,3_prime_UTR_variant,,ENST00000438133,;SUMF2,3_prime_UTR_variant,,ENST00000436782,;SUMF2,non_coding_transcript_exon_variant,,ENST00000531229,;PHKG1,downstream_gene_variant,,ENST00000395428,;PHKG1,downstream_gene_variant,,ENST00000471665,;SUMF2,downstream_gene_variant,,ENST00000529457,;SUMF2,downstream_gene_variant,,ENST00000461912,;	825	146	119	SUCCESS
UBR5	51366	.	GRCh37	8	103291424	103291424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	265	74	258	0	ENST00000520539.1:c.6014A>T	p.Asn2005Ile	p.N2005I	ENST00000520539	NM_015902.5	2005	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS34933.1	6014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCATTCAAA	NONE	.	.	hmmpanther:PTHR11254:SF77,hmmpanther:PTHR11254	.	.	ENSP00000429084	.	43/59	.	.	.	.	.	.	.	.	.	43/59	PASS	ENST00000520539	Transcript	.	.	ENSG00000104517	16806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.19)	.	UBR5_HUMAN	UBR5	HGNC	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN	.	UPI0000129BCB	SNV	UBR5,missense_variant,p.Asn2005Ile,ENST00000520539,;UBR5,missense_variant,p.Asn2005Ile,ENST00000220959,;UBR5,missense_variant,p.Asn1999Ile,ENST00000521922,;UBR5,upstream_gene_variant,,ENST00000521566,;	6621	258	340	SUCCESS
FAM167A	83648	.	GRCh37	8	11301674	11301674	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376899787	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	17	78	0	ENST00000284486.4:c.247C>A	p.Leu83Ile	p.L83I	ENST00000284486	NM_053279.2	83	Ctc/Atc	0	T:0	.	.	.	.	T	L/I	protein_coding	YES	CCDS5981.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGCAAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR32289:SF3,hmmpanther:PTHR32289	.	T:0.0001	ENSP00000284486	.	2/3	.	.	.	.	.	.	.	.	rs376899787	2/3	PASS	ENST00000284486	Transcript	.	.	ENSG00000154319	15549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.29)	.	F167A_HUMAN	FAM167A	HGNC	Q86Y02_HUMAN,E9PIY0_HUMAN	.	UPI0000127668	SNV	FAM167A,missense_variant,p.Leu83Ile,ENST00000531804,;FAM167A,missense_variant,p.Leu83Ile,ENST00000284486,;FAM167A,missense_variant,p.Leu83Ile,ENST00000528897,;FAM167A,missense_variant,p.Leu83Ile,ENST00000534308,;FAM167A,intron_variant,,ENST00000527445,;FAM167A,upstream_gene_variant,,ENST00000531564,;FAM167A,downstream_gene_variant,,ENST00000528111,;	786	78	22	SUCCESS
MIR937	100126338	.	GRCh37	8	144895190	144895190	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	161	155	0	ENST00000401271.1:n.23G>T		p.*8*	ENST00000401271				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6412.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCCTGAC	NONE	.	.	.	.	.	ENSP00000349486	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODIFIER	7/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,intron_variant,,ENST00000377533,;SCRIB,intron_variant,,ENST00000356994,;SCRIB,intron_variant,,ENST00000320476,;PUF60,downstream_gene_variant,,ENST00000529999,;PUF60,downstream_gene_variant,,ENST00000349157,;PUF60,downstream_gene_variant,,ENST00000313352,;PUF60,downstream_gene_variant,,ENST00000527197,;PUF60,downstream_gene_variant,,ENST00000526683,;PUF60,downstream_gene_variant,,ENST00000453551,;PUF60,downstream_gene_variant,,ENST00000456095,;SCRIB,upstream_gene_variant,,ENST00000531942,;PUF60,downstream_gene_variant,,ENST00000532884,;PUF60,downstream_gene_variant,,ENST00000531897,;PUF60,downstream_gene_variant,,ENST00000527744,;PUF60,downstream_gene_variant,,ENST00000526459,;MIR937,non_coding_transcript_exon_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000531951,;PUF60,downstream_gene_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000528320,;	.	155	220	SUCCESS
PTK2B	2185	.	GRCh37	8	27315938	27315938	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	38	117	0	ENST00000346049.5:c.2942A>G	p.His981Arg	p.H981R	ENST00000346049	NM_173176.2	981	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS6057.1	2942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACACACCC	NONE	.	.	Superfamily_domains:SSF68993,Pfam_domain:PF03623,Gene3D:1.20.120.330	.	.	ENSP00000380638	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000397501	Transcript	.	.	ENSG00000120899	9612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FAK2_HUMAN	PTK2B	HGNC	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN	.	UPI000000D9EC	SNV	PTK2B,missense_variant,p.His939Arg,ENST00000338238,;PTK2B,missense_variant,p.His939Arg,ENST00000517339,;PTK2B,missense_variant,p.His939Arg,ENST00000420218,;PTK2B,missense_variant,p.His981Arg,ENST00000544172,;PTK2B,missense_variant,p.His981Arg,ENST00000397501,;PTK2B,missense_variant,p.His981Arg,ENST00000346049,;CHRNA2,downstream_gene_variant,,ENST00000407991,;CHRNA2,downstream_gene_variant,,ENST00000240132,;CHRNA2,downstream_gene_variant,,ENST00000520933,;PTK2B,non_coding_transcript_exon_variant,,ENST00000522245,;PTK2B,downstream_gene_variant,,ENST00000482543,;CHRNA2,downstream_gene_variant,,ENST00000523529,;CHRNA2,downstream_gene_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000523695,;	3750	117	47	SUCCESS
MRPL15	29088	.	GRCh37	8	55055240	55055240	+	synonymous_variant	Silent	SNP	G	G	A	rs1456973462	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	308	26	224	0	ENST00000260102.4:c.447G>A	p.Thr149=	p.T149=	ENST00000260102	NM_014175.3	149	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6158.1	447	MUTECT|MUSE	.	TTTACGGCAAA	NONE	.	.	hmmpanther:PTHR12934,Pfam_domain:PF00828,Gene3D:3.100.10.10,Superfamily_domains:SSF52080	.	.	ENSP00000260102	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000260102	Transcript	.	.	ENSG00000137547	14054	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RM15_HUMAN	MRPL15	HGNC	E5RIZ4_HUMAN	.	UPI0000035FCA	SNV	MRPL15,synonymous_variant,p.%3D,ENST00000260102,;MRPL15,synonymous_variant,p.%3D,ENST00000519831,;MRPL15,5_prime_UTR_variant,,ENST00000522521,;	521	224	334	SUCCESS
LPAR1	1902	.	GRCh37	9	113703757	113703757	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769282124	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	42	86	1	ENST00000358883.4:c.737C>A	p.Pro246His	p.P246H	ENST00000358883	NM_001401.3	246	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS6777.1	737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGGGTCCA	NONE	.	.	Prints_domain:PR01148,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF22,PROSITE_profiles:PS50262	.	.	ENSP00000363553	.	4/5	.	.	.	.	.	.	.	.	rs769282124	4/5	PASS	ENST00000374431	Transcript	.	.	ENSG00000198121	3166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	tolerated(0.33)	.	LPAR1_HUMAN	LPAR1	HGNC	Q6GPG7_HUMAN,Q5VZX0_HUMAN,B1AP63_HUMAN	.	UPI000011DBF9	SNV	LPAR1,missense_variant,p.Pro246His,ENST00000374431,;LPAR1,missense_variant,p.Pro247His,ENST00000541779,;LPAR1,missense_variant,p.Pro247His,ENST00000538760,;LPAR1,missense_variant,p.Pro246His,ENST00000358883,;LPAR1,missense_variant,p.Pro246His,ENST00000374430,;LPAR1,downstream_gene_variant,,ENST00000441240,;	1121	87	80	SUCCESS
FAM205A	259308	.	GRCh37	9	34725141	34725141	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1034277892	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	12	182	0	ENST00000378788.3:c.2096C>T	p.Ser699Phe	p.S699F	ENST00000378788	NM_001141917.1	699	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS55305.1	2096	MUTECT|VARSCANS	.	CCCAGGACCTG	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.648)	.	deleterious(0)	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,missense_variant,p.Ser699Phe,ENST00000378788,;	2136	182	103	SUCCESS
FAM205B	0	.	GRCh37	9	34834203	34834203	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	48	193	0	ENST00000399773.6:n.2098C>T		p.*700*	ENST00000399773				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGACCTG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	2098	193	161	SUCCESS
TMEM8B	51754	.	GRCh37	9	35853536	35853536	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	68	0	ENST00000377988.2:c.1118C>T	p.Pro373Leu	p.P373L	ENST00000377988	NM_001042590.2	373	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43800.1	1118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCACCCA	NONE	.	.	hmmpanther:PTHR14319:SF6,hmmpanther:PTHR14319,Pfam_domain:PF12036	.	.	ENSP00000367227	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000377988	Transcript	.	.	ENSG00000137103	21427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TMM8B_HUMAN	TMEM8B	HGNC	.	.	UPI00002113B9	SNV	TMEM8B,missense_variant,p.Pro373Leu,ENST00000377988,;TMEM8B,missense_variant,p.Pro373Leu,ENST00000377991,;	2406	68	44	SUCCESS
TMC1	117531	.	GRCh37	9	75407157	75407157	+	synonymous_variant	Silent	SNP	T	T	C	rs1564557522	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	53	183	0	ENST00000297784.5:c.1455T>C	p.Asn485=	p.N485=	ENST00000297784	NM_138691.2	485	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS6643.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATATGAT	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18	.	.	ENSP00000297784	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000297784	Transcript	.	.	ENSG00000165091	16513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC1_HUMAN	TMC1	HGNC	.	.	UPI0000161FA9	SNV	TMC1,synonymous_variant,p.%3D,ENST00000297784,;TMC1,synonymous_variant,p.%3D,ENST00000340019,;TMC1,synonymous_variant,p.%3D,ENST00000396237,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;	1995	183	130	SUCCESS
NMRK1	54981	.	GRCh37	9	77681717	77681717	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	51	123	0	ENST00000361092.4:c.536T>C	p.Leu179Ser	p.L179S	ENST00000361092	NM_017881.2	179	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS6650.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCAAAAAG	NONE	.	.	Prints_domain:PR00988,Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF5	.	.	ENSP00000354387	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000361092	Transcript	.	.	ENSG00000106733	26057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	NRK1_HUMAN	NMRK1	HGNC	B3KN26_HUMAN	.	UPI000003B00B	SNV	NMRK1,missense_variant,p.Leu155Ser,ENST00000376808,;NMRK1,missense_variant,p.Leu183Ser,ENST00000376811,;NMRK1,missense_variant,p.Leu179Ser,ENST00000361092,;NMRK1,non_coding_transcript_exon_variant,,ENST00000482537,;NMRK1,3_prime_UTR_variant,,ENST00000494066,;	773	123	118	SUCCESS
ARMCX3	51566	.	GRCh37	X	100880445	100880445	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	85	110	0	ENST00000341189.4:c.476T>A	p.Ile159Asn	p.I159N	ENST00000341189	NM_016607.3	159	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS14489.1	476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTATTCGTG	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF8,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	SNV	ARMCX3,missense_variant,p.Ile159Asn,ENST00000471229,;ARMCX3,missense_variant,p.Ile159Asn,ENST00000341189,;ARMCX3,missense_variant,p.Ile159Asn,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3,downstream_gene_variant,,ENST00000491568,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	1342	110	180	SUCCESS
PLP1	5354	.	GRCh37	X	103041449	103041449	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	104	195	0	ENST00000418604.1:c.250del	p.Ala84ProfsTer30	p.A84Pfs*30	ENST00000418604	NM_001128834.1	83	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS14513.1	247	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTATGGGGCC	NONE	.	.	hmmpanther:PTHR11683:SF11,hmmpanther:PTHR11683,Pfam_domain:PF01275,Prints_domain:PR00214	.	.	ENSP00000405750	.	4/8	.	.	.	.	.	.	.	.	CM102499	4/8	PASS	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	3	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	deletion	PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000455268,;PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000429977,;PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000434483,;PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000422393,;PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000361621,;PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000303958,;PLP1,frameshift_variant,p.Ala84ProfsTer?,ENST00000443502,;PLP1,frameshift_variant,p.Ala84ProfsTer30,ENST00000418604,;PLP1,frameshift_variant,p.Ala84ProfsTer?,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000495678,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000464776,;PLP1,non_coding_transcript_exon_variant,,ENST00000485931,;PLP1,non_coding_transcript_exon_variant,,ENST00000494475,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000476160,;PLP1,intron_variant,,ENST00000465975,;PLP1,upstream_gene_variant,,ENST00000494119,;PLP1,upstream_gene_variant,,ENST00000466486,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	527	195	331	SUCCESS
GPR101	83550	.	GRCh37	X	136113550	136113550	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	113	63	0	ENST00000298110.1:c.284T>C	p.Leu95Pro	p.L95P	ENST00000298110	NM_054021.1	95	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS14662.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGAGAGGC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	.	.	ENSP00000298110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298110	Transcript	.	.	ENSG00000165370	14963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.21)	.	GP101_HUMAN	GPR101	HGNC	.	.	UPI000003BCCD	SNV	GPR101,missense_variant,p.Leu95Pro,ENST00000298110,;	284	63	116	SUCCESS
MAP3K15	389840	.	GRCh37	X	19416359	19416359	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	32	47	0	ENST00000338883.4:c.2051C>G	p.Pro684Arg	p.P684R	ENST00000338883	NM_001001671.3	684	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	.	2051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGGGATT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000345629	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.07)	.	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,missense_variant,p.Pro516Arg,ENST00000469203,;MAP3K15,missense_variant,p.Pro119Arg,ENST00000359173,;MAP3K15,missense_variant,p.Pro684Arg,ENST00000338883,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	2051	47	35	SUCCESS
WDR13	64743	.	GRCh37	X	48456699	48456699	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	22	0	ENST00000218056.5:c.41+274C>T		p.*14*	ENST00000218056	NM_001166426.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14302.1	.	MUTECT|MUSE	.	CCTATCCCCTA	NONE	.	.	.	.	.	ENSP00000218056	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000218056	Transcript	.	.	ENSG00000101940	14352	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR13_HUMAN	WDR13	HGNC	.	.	UPI00001AE60C	SNV	WDR13,intron_variant,,ENST00000218056,;WDR13,intron_variant,,ENST00000376729,;WDR13,non_coding_transcript_exon_variant,,ENST00000479279,;WDR13,non_coding_transcript_exon_variant,,ENST00000492715,;WDR13,intron_variant,,ENST00000497756,;WDR13,intron_variant,,ENST00000471334,;WDR13,intron_variant,,ENST00000470124,;WDR13,intron_variant,,ENST00000498631,;WDR13,intron_variant,,ENST00000486125,;WDR13,upstream_gene_variant,,ENST00000466962,;WDR13,upstream_gene_variant,,ENST00000482760,;WDR13,upstream_gene_variant,,ENST00000495575,;WDR13,downstream_gene_variant,,ENST00000472440,;	.	22	10	SUCCESS
LOXL4	84171	.	GRCh37	10	100017527	100017527	+	synonymous_variant	Silent	SNP	G	G	A	rs771955268	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	64	0	ENST00000260702.3:c.1140C>T	p.Cys380=	p.C380=	ENST00000260702	NM_032211.6	380	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS7473.1	1140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTGCAGCG	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	.	.	ENSP00000260702	.	8/15	.	.	.	.	.	.	.	.	rs771955268	8/15	PASS	ENST00000260702	Transcript	.	.	ENSG00000138131	17171	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOXL4_HUMAN	LOXL4	HGNC	.	.	UPI0000046706	SNV	LOXL4,synonymous_variant,p.%3D,ENST00000260702,;RP11-34A14.3,downstream_gene_variant,,ENST00000433374,;	1291	64	78	SUCCESS
GPR158	57512	.	GRCh37	10	25464914	25464914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	59	0	ENST00000376351.3:c.565C>A	p.Gln189Lys	p.Q189K	ENST00000376351	NM_020752.2	189	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31166.1	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACAGGTC	NONE	.	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.09)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Gln189Lys,ENST00000376351,;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;	924	59	81	SUCCESS
GPR158	57512	.	GRCh37	10	25886779	25886779	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	7	173	0	ENST00000376351.3:c.2224A>T	p.Lys742Ter	p.K742*	ENST00000376351	NM_020752.2	742	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31166.1	2224	MUTECT|MUSE	.	TCCAGAAAAAG	NONE	.	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,stop_gained,p.Lys742Ter,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	2583	173	216	SUCCESS
ZNF248	57209	.	GRCh37	10	38121102	38121102	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	106	0	ENST00000357328.4:c.1181A>G	p.Asn394Ser	p.N394S	ENST00000357328	NM_001267597.1	394	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS7194.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTTTGAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379208	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395867	Transcript	.	.	ENSG00000198105	13041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.44)	.	ZN248_HUMAN	ZNF248	HGNC	Q9UMP4_HUMAN,B4DF82_HUMAN,B1AL42_HUMAN,B1AL40_HUMAN,A2RUI7_HUMAN	.	UPI000006CF12	SNV	ZNF248,missense_variant,p.Asn394Ser,ENST00000357328,;ZNF248,missense_variant,p.Asn394Ser,ENST00000395867,;ZNF248,intron_variant,,ENST00000374648,;ZNF248,downstream_gene_variant,,ENST00000395873,;AL135791.1,downstream_gene_variant,,ENST00000583461,;ZNF248,intron_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,;	1732	106	95	SUCCESS
ACP2	53	.	GRCh37	11	47269901	47269901	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	19	0	ENST00000256997.3:c.115-217C>T		p.*39*	ENST00000256997	NM_001610.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7928.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGTACAG	NONE	.	.	.	.	.	ENSP00000256997	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256997	Transcript	.	.	ENSG00000134575	123	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAL_HUMAN	ACP2	HGNC	F5GWV7_HUMAN	.	UPI0000131FE1	SNV	ACP2,intron_variant,,ENST00000529788,;ACP2,intron_variant,,ENST00000533929,;ACP2,intron_variant,,ENST00000256997,;ACP2,intron_variant,,ENST00000530453,;ACP2,intron_variant,,ENST00000529444,;ACP2,intron_variant,,ENST00000537863,;ACP2,intron_variant,,ENST00000444355,;ACP2,intron_variant,,ENST00000529663,;ACP2,intron_variant,,ENST00000527256,;NR1H3,upstream_gene_variant,,ENST00000395397,;NR1H3,upstream_gene_variant,,ENST00000405576,;NR1H3,upstream_gene_variant,,ENST00000481889,;NR1H3,upstream_gene_variant,,ENST00000407404,;NR1H3,upstream_gene_variant,,ENST00000436778,;NR1H3,upstream_gene_variant,,ENST00000531660,;NR1H3,non_coding_transcript_exon_variant,,ENST00000495866,;NR1H3,non_coding_transcript_exon_variant,,ENST00000527464,;NR1H3,non_coding_transcript_exon_variant,,ENST00000529540,;NR1H3,upstream_gene_variant,,ENST00000532630,;ACP2,upstream_gene_variant,,ENST00000534752,;ACP2,upstream_gene_variant,,ENST00000524769,;ACP2,upstream_gene_variant,,ENST00000525230,;ACP2,intron_variant,,ENST00000531547,;ACP2,intron_variant,,ENST00000531004,;ACP2,intron_variant,,ENST00000534448,;NR1H3,upstream_gene_variant,,ENST00000481020,;NR1H3,upstream_gene_variant,,ENST00000487913,;	.	19	20	SUCCESS
OR8H1	219469	.	GRCh37	11	56057636	56057636	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	63	182	0	ENST00000313022.2:c.903T>C	p.Ile301=	p.I301=	ENST00000313022	NM_001005199.1	301	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS31526.1	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTAATGAG	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313022	Transcript	.	.	ENSG00000181693	14824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8H1_HUMAN	OR8H1	HGNC	.	.	UPI0000041BC0	SNV	OR8H1,synonymous_variant,p.%3D,ENST00000313022,;	931	182	163	SUCCESS
CNGA4	1262	.	GRCh37	11	6261724	6261724	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	5	161	0	ENST00000379936.2:c.700G>A	p.Asp234Asn	p.D234N	ENST00000379936	NM_001037329.3	234	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS31408.1	700	MUTECT|MUSE	.	TGGGCGATACA	NONE	.	.	hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000369268	.	4/6	.	.	.	.	.	.	.	.	COSM179414	4/6	PASS	ENST00000379936	Transcript	.	.	ENSG00000132259	2152	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,missense_variant,p.Asp234Asn,ENST00000379936,;CNGA4,intron_variant,,ENST00000533426,;	815	161	133	SUCCESS
C2CD3	26005	.	GRCh37	11	73849880	73849880	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139995248	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	35	83	0	ENST00000334126.7:c.840G>T	p.Gln280His	p.Q280H	ENST00000334126	NM_001286577.1	280	caG/caT	0	T:0	T:0	.	T:0	.	A	Q/H	protein_coding	YES	CCDS31636.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCTGCTT	BUFFER|p.L284L|c.850C>T|3,BUFFER|p.L284L|c.850C>T|3	byCluster|by1000G	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1	T:0	T:0.0003	ENSP00000323339	T:0.001	5/31	.	.	.	.	.	.	.	.	rs139995248,COSM340930,COSM340931	5/31	PASS	ENST00000313663	Transcript	.	T:0.0002	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.059)	T:0	tolerated(0.15)	0,1,1	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Gln280His,ENST00000539061,;C2CD3,missense_variant,p.Gln280His,ENST00000313663,;C2CD3,missense_variant,p.Gln280His,ENST00000334126,;C2CD3,downstream_gene_variant,,ENST00000541922,;C2CD3,non_coding_transcript_exon_variant,,ENST00000415191,;RP11-691F15.1,upstream_gene_variant,,ENST00000537692,;	1067	83	98	SUCCESS
TMEM132C	92293	.	GRCh37	12	129190519	129190519	+	synonymous_variant	Silent	SNP	G	G	A	rs551480348	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	110	0	ENST00000435159.2:c.3006G>A	p.Pro1002=	p.P1002=	ENST00000435159	NM_001136103.2	1002	ccG/ccA	0	.	A:0.0008	.	A:0	.	A	P	protein_coding	YES	.	3006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGGGGGC	NONE	by1000G	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4	A:0	.	ENSP00000410852	A:0	9/9	.	.	.	.	.	.	.	.	rs551480348	9/9	PASS	ENST00000435159	Transcript	.	A:0.0002	ENSG00000181234	25436	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	T132C_HUMAN	TMEM132C	HGNC	F5H439_HUMAN,E9PC33_HUMAN	.	UPI0001C0B37C	SNV	TMEM132C,synonymous_variant,p.%3D,ENST00000537538,;TMEM132C,synonymous_variant,p.%3D,ENST00000315208,;TMEM132C,synonymous_variant,p.%3D,ENST00000435159,;	3006	110	110	SUCCESS
GXYLT1	283464	.	GRCh37	12	42503406	42503407	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	261	99	296	0	ENST00000398675.3:c.573dup	p.Leu192ThrfsTer3	p.L192Tfs*3	ENST00000398675	NM_173601.1	191	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS41772.1	573-574	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAGAGTTTTT	NONE	.	.	hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF14,Pfam_domain:PF01501,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000381666	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000398675	Transcript	.	.	ENSG00000151233	27482	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GXLT1_HUMAN	GXYLT1	HGNC	.	.	UPI0000237587	insertion	GXYLT1,frameshift_variant,p.Leu161ThrfsTer3,ENST00000280876,;GXYLT1,frameshift_variant,p.Leu192ThrfsTer3,ENST00000398675,;	806-807	296	360	SUCCESS
TROAP	10024	.	GRCh37	12	49719613	49719613	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	55	0	ENST00000257909.3:c.579G>A	p.Leu193=	p.L193=	ENST00000257909	NM_005480.3	193	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8784.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGGAGGG	NONE	.	.	hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3	.	.	ENSP00000257909	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000257909	Transcript	.	.	ENSG00000135451	12327	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TROAP_HUMAN	TROAP	HGNC	F8W052_HUMAN	.	UPI000007108A	SNV	TROAP,synonymous_variant,p.%3D,ENST00000551245,;TROAP,synonymous_variant,p.%3D,ENST00000547807,;TROAP,synonymous_variant,p.%3D,ENST00000257909,;TROAP,synonymous_variant,p.%3D,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000550709,;TROAP,downstream_gene_variant,,ENST00000548311,;TROAP,upstream_gene_variant,,ENST00000547923,;TROAP,downstream_gene_variant,,ENST00000551567,;TROAP,downstream_gene_variant,,ENST00000380327,;TROAP,downstream_gene_variant,,ENST00000549275,;TROAP,downstream_gene_variant,,ENST00000549534,;RP11-161H23.9,upstream_gene_variant,,ENST00000553259,;TROAP,3_prime_UTR_variant,,ENST00000546735,;TROAP,3_prime_UTR_variant,,ENST00000551192,;TROAP,3_prime_UTR_variant,,ENST00000546776,;TROAP,non_coding_transcript_exon_variant,,ENST00000548817,;TROAP,intron_variant,,ENST00000549891,;	655	55	49	SUCCESS
BEST3	144453	.	GRCh37	12	70088201	70088201	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	43	115	0	ENST00000330891.5:c.196T>C	p.Ser66Pro	p.S66P	ENST00000330891	NM_032735.2	66	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS8992.2	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGATAATT	NONE	.	.	hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2,Pfam_domain:PF01062	.	.	ENSP00000332413	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000330891	Transcript	.	.	ENSG00000127325	17105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0.01)	.	BEST3_HUMAN	BEST3	HGNC	F8VVZ2_HUMAN	.	UPI000006E397	SNV	BEST3,missense_variant,p.Ser66Pro,ENST00000331471,;BEST3,missense_variant,p.Ser66Pro,ENST00000330891,;BEST3,missense_variant,p.Ser66Pro,ENST00000548658,;BEST3,5_prime_UTR_variant,,ENST00000393365,;BEST3,5_prime_UTR_variant,,ENST00000551160,;BEST3,intron_variant,,ENST00000476098,;BEST3,intron_variant,,ENST00000553096,;BEST3,intron_variant,,ENST00000266661,;BEST3,upstream_gene_variant,,ENST00000552295,;BEST3,non_coding_transcript_exon_variant,,ENST00000533674,;BEST3,intron_variant,,ENST00000547208,;	423	115	130	SUCCESS
OTOGL	283310	.	GRCh37	12	80732976	80732977	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	105	36	110	0	ENST00000547103.1:c.4919_4920insC	p.Thr1641TyrfsTer13	p.T1641Yfs*13	ENST00000547103		1640	ctt/ctCt	0	.	.	.	.	.	C	L/LX	protein_coding	YES	.	4955-4956	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATCTTACAG	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000400895	.	42/58	.	.	.	.	.	.	.	.	.	42/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	insertion	OTOGL,frameshift_variant,p.Thr1653TyrfsTer13,ENST00000458043,;OTOGL,frameshift_variant,p.Thr96TyrfsTer13,ENST00000298820,;OTOGL,frameshift_variant,p.Thr1641TyrfsTer13,ENST00000547103,;RN7SKP261,downstream_gene_variant,,ENST00000410948,;	4961-4962	110	141	SUCCESS
EIF5	1983	.	GRCh37	14	103806063	103806063	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	89	0	ENST00000216554.3:c.994A>T	p.Lys332Ter	p.K332*	ENST00000216554	NM_001969.4	332	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS9980.1	994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCAAGATT	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00515,Gene3D:1.25.40.180,Pfam_domain:PF02020,hmmpanther:PTHR23001,PROSITE_profiles:PS51363	.	.	ENSP00000216554	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000216554	Transcript	.	.	ENSG00000100664	3299	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF5_HUMAN	EIF5	HGNC	H0YN40_HUMAN,H0YMJ8_HUMAN,H0YM54_HUMAN,H0YLZ1_HUMAN,H0YK29_HUMAN,H0YK11_HUMAN	.	UPI000012D3A5	SNV	EIF5,stop_gained,p.Lys332Ter,ENST00000216554,;EIF5,stop_gained,p.Lys332Ter,ENST00000392715,;EIF5,stop_gained,p.Lys332Ter,ENST00000558506,;EIF5,downstream_gene_variant,,ENST00000560763,;EIF5,downstream_gene_variant,,ENST00000560338,;EIF5,downstream_gene_variant,,ENST00000558265,;EIF5,downstream_gene_variant,,ENST00000561325,;EIF5,downstream_gene_variant,,ENST00000559532,;EIF5,downstream_gene_variant,,ENST00000558316,;EIF5,downstream_gene_variant,,ENST00000559130,;SNORA28,downstream_gene_variant,,ENST00000606769,;EIF5,upstream_gene_variant,,ENST00000561406,;EIF5,downstream_gene_variant,,ENST00000560877,;EIF5,downstream_gene_variant,,ENST00000560200,;EIF5,non_coding_transcript_exon_variant,,ENST00000561380,;EIF5,downstream_gene_variant,,ENST00000558551,;EIF5,downstream_gene_variant,,ENST00000561023,;EIF5,downstream_gene_variant,,ENST00000559923,;EIF5,downstream_gene_variant,,ENST00000561439,;EIF5,downstream_gene_variant,,ENST00000559011,;EIF5,upstream_gene_variant,,ENST00000558800,;EIF5,downstream_gene_variant,,ENST00000559249,;	1670	89	95	SUCCESS
NOVA1	4857	.	GRCh37	14	27066696	27066696	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	70	0	ENST00000539517.2:c.-54A>T		p.*18*	ENST00000539517	NM_002515.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32061.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTGGCTTTTTC	NONE	.	.	.	.	.	ENSP00000438875	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,5_prime_UTR_variant,,ENST00000547619,;NOVA1,5_prime_UTR_variant,,ENST00000539517,;NOVA1,upstream_gene_variant,,ENST00000549146,;NOVA1,upstream_gene_variant,,ENST00000574031,;NOVA1,upstream_gene_variant,,ENST00000267422,;NOVA1,upstream_gene_variant,,ENST00000465357,;NOVA1,upstream_gene_variant,,ENST00000347476,;NOVA1,upstream_gene_variant,,ENST00000549571,;NOVA1,upstream_gene_variant,,ENST00000344429,;NOVA1,upstream_gene_variant,,ENST00000449198,;NOVA1-AS1,upstream_gene_variant,,ENST00000547786,;RP11-483C6.1,upstream_gene_variant,,ENST00000572358,;NOVA1,upstream_gene_variant,,ENST00000551754,;NOVA1,5_prime_UTR_variant,,ENST00000483536,;NOVA1,upstream_gene_variant,,ENST00000546546,;NOVA1,upstream_gene_variant,,ENST00000547415,;	265	70	58	SUCCESS
ASB2	51676	.	GRCh37	14	94420805	94420805	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	49	0	ENST00000315988.4:c.192C>T	p.Ala64=	p.A64=	ENST00000315988	NM_016150.4	64	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS55940.1	336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGGCCTT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24196:SF0,hmmpanther:PTHR24196,Gene3D:1.25.40.20,Pfam_domain:PF13637,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000451575	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000555019	Transcript	.	.	ENSG00000100628	16012	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB2_HUMAN	ASB2	HGNC	G3V484_HUMAN,B3KPZ6_HUMAN	.	UPI000013D23C	SNV	ASB2,synonymous_variant,p.%3D,ENST00000557613,;ASB2,synonymous_variant,p.%3D,ENST00000556062,;ASB2,synonymous_variant,p.%3D,ENST00000555507,;ASB2,synonymous_variant,p.%3D,ENST00000315988,;ASB2,synonymous_variant,p.%3D,ENST00000555019,;ASB2,synonymous_variant,p.%3D,ENST00000555287,;ASB2,intron_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000556793,;	767	49	64	SUCCESS
PDCD7	10081	.	GRCh37	15	65412278	65412278	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	124	0	ENST00000204549.4:c.1024G>A	p.Ala342Thr	p.A342T	ENST00000204549	NM_005707.1	342	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10201.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCTGGAG	NONE	.	.	hmmpanther:PTHR24022	.	.	ENSP00000204549	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000204549	Transcript	.	.	ENSG00000090470	8767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.38)	.	PDCD7_HUMAN	PDCD7	HGNC	Q6IEG3_HUMAN	.	UPI00000731D7	SNV	PDCD7,missense_variant,p.Ala342Thr,ENST00000204549,;PDCD7,intron_variant,,ENST00000560313,;UBAP1L,upstream_gene_variant,,ENST00000559089,;PDCD7,upstream_gene_variant,,ENST00000559051,;	1079	124	90	SUCCESS
AXIN1	8312	.	GRCh37	16	347839	347843	+	frameshift_variant	Frame_Shift_Del	DEL	CGGGT	CGGGT	-	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	CGGGT	CGGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	55	0	ENST00000262320.3:c.1663_1667del	p.Thr555GlnfsTer34	p.T555Qfs*34	ENST00000262320	NM_003502.3	555	ACCCGc/c	0	.	.	.	.	.	-	TR/X	protein_coding	YES	CCDS10405.1	1663-1667	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCTGCGGGTGGCCT	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	deletion	AXIN1,frameshift_variant,p.Thr555GlnfsTer34,ENST00000262320,;AXIN1,frameshift_variant,p.Thr555GlnfsTer34,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	2035-2039	55	24	SUCCESS
BRCA1	672	.	GRCh37	17	41245576	41245576	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs55932871	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	101	0	ENST00000357654.3:c.1972A>G	p.Met658Val	p.M658V	ENST00000357654	NM_007294.3	658	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS11456.2	1972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TGGCATTTGGT	BUFFER|p.K654fs*47|c.1961delA|3	.	.	hmmpanther:PTHR13763:SF0,hmmpanther:PTHR13763,Pfam_domain:PF04873,PIRSF_domain:PIRSF001734	.	.	ENSP00000418960	.	10/24	.	.	.	.	.	.	.	.	rs397507195,rs55932871	10/24	PASS	ENST00000471181	Transcript	.	.	ENSG00000012048	1100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0	.	.	benign(0.009)	.	tolerated(0.74)	.	.	BRCA1	HGNC	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFC7_HUMAN,E7EWN5_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN	.	UPI0000E0360B	SNV	BRCA1,missense_variant,p.Met658Val,ENST00000346315,;BRCA1,missense_variant,p.Met658Val,ENST00000357654,;BRCA1,missense_variant,p.Met362Val,ENST00000309486,;BRCA1,missense_variant,p.Met658Val,ENST00000354071,;BRCA1,missense_variant,p.Met611Val,ENST00000493795,;BRCA1,missense_variant,p.Met658Val,ENST00000471181,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,intron_variant,,ENST00000468300,;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000491747,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,upstream_gene_variant,,ENST00000461574,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,;	2204	101	84	SUCCESS
ZNF581	51545	.	GRCh37	19	56156193	56156193	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753506279	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	128	0	ENST00000270451.5:c.256T>C	p.Cys86Arg	p.C86R	ENST00000270451	NM_016535.3	86	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS12932.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTGCTAC	NONE	byFrequency	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF110,Gene3D:3.30.160.60	.	.	ENSP00000466047	.	2/2	.	.	.	.	.	.	.	.	rs753506279	2/2	PASS	ENST00000587252	Transcript	.	.	ENSG00000171425	25017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	ZN581_HUMAN	ZNF581	HGNC	K7EM32_HUMAN	.	UPI0000070E84	SNV	ZNF581,missense_variant,p.Cys86Arg,ENST00000588537,;ZNF581,missense_variant,p.Cys86Arg,ENST00000270451,;ZNF581,missense_variant,p.Cys86Arg,ENST00000587252,;ZNF581,missense_variant,p.Cys86Arg,ENST00000585995,;CCDC106,intron_variant,,ENST00000592996,;ZNF580,downstream_gene_variant,,ENST00000592881,;ZNF580,downstream_gene_variant,,ENST00000325333,;CCDC106,upstream_gene_variant,,ENST00000591241,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000545125,;ZNF580,downstream_gene_variant,,ENST00000543039,;CCDC106,upstream_gene_variant,,ENST00000308964,;CCDC106,upstream_gene_variant,,ENST00000591578,;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000586790,;CCDC106,upstream_gene_variant,,ENST00000593069,;CCDC106,upstream_gene_variant,,ENST00000587213,;CCDC106,upstream_gene_variant,,ENST00000586864,;	529	128	111	SUCCESS
LONP1	9361	.	GRCh37	19	5719971	5719971	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	7	153	0	ENST00000360614.3:c.173G>A	p.Gly58Asp	p.G58D	ENST00000360614	NM_004793.3	58	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12148.1	173	MUTECT|MUSE	.	CCGGGCCTCGG	NONE	.	.	HAMAP:MF_03120	.	.	ENSP00000353826	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000360614	Transcript	1	.	ENSG00000196365	9479	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.07)	.	LONM_HUMAN	LONP1	HGNC	K7EKE6_HUMAN,F5GZ27_HUMAN	.	UPI000012E7EF	SNV	LONP1,missense_variant,p.Gly58Asp,ENST00000360614,;LONP1,missense_variant,p.Gly58Asp,ENST00000587365,;LONP1,intron_variant,,ENST00000593119,;LONP1,intron_variant,,ENST00000540670,;LONP1,intron_variant,,ENST00000585374,;LONP1,upstream_gene_variant,,ENST00000590729,;CATSPERD,upstream_gene_variant,,ENST00000381614,;CATSPERD,upstream_gene_variant,,ENST00000381624,;LONP1,non_coding_transcript_exon_variant,,ENST00000590511,;LONP1,non_coding_transcript_exon_variant,,ENST00000590728,;LONP1,missense_variant,p.Gly58Asp,ENST00000586617,;LONP1,upstream_gene_variant,,ENST00000590558,;LONP1,upstream_gene_variant,,ENST00000587552,;	331	153	167	SUCCESS
DENND2D	79961	.	GRCh37	1	111730233	111730233	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	64	72	0	ENST00000357640.4:c.1410G>A	p.Val470=	p.V470=	ENST00000357640	NM_024901.4	470	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS831.1	1410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCACAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF2	.	.	ENSP00000350266	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000357640	Transcript	.	.	ENSG00000162777	26192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN2D_HUMAN	DENND2D	HGNC	Q8TCN6_HUMAN	.	UPI000006E1E1	SNV	DENND2D,synonymous_variant,p.%3D,ENST00000357640,;DENND2D,synonymous_variant,p.%3D,ENST00000369752,;CEPT1,downstream_gene_variant,,ENST00000357172,;CEPT1,downstream_gene_variant,,ENST00000545121,;RP5-1180E21.5,upstream_gene_variant,,ENST00000610049,;DENND2D,non_coding_transcript_exon_variant,,ENST00000468692,;CEPT1,downstream_gene_variant,,ENST00000478042,;CEPT1,downstream_gene_variant,,ENST00000483427,;CEPT1,downstream_gene_variant,,ENST00000467362,;CEPT1,downstream_gene_variant,,ENST00000473474,;CEPT1,downstream_gene_variant,,ENST00000498239,;	1640	72	135	SUCCESS
ADORA3	140	.	GRCh37	1	112042811	112042811	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	99	185	0	ENST00000241356.4:c.718G>A	p.Ala240Thr	p.A240T	ENST00000241356	NM_000677.3	240	Gct/Act	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS838.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCAAACA	NONE	.	.	.	.	.	ENSP00000358730	.	.	.	.	.	.	.	.	.	.	COSM1332717	.	PASS	ENST00000369716	Transcript	.	.	ENSG00000121933	268	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	AA3R_HUMAN	ADORA3	HGNC	.	.	UPI000004C602	SNV	ADORA3,missense_variant,p.Ala240Thr,ENST00000241356,;ADORA3,intron_variant,,ENST00000369716,;ADORA3,intron_variant,,ENST00000443498,;ADORA3,intron_variant,,ENST00000369717,;ADORA3,non_coding_transcript_exon_variant,,ENST00000495493,;ADORA3,downstream_gene_variant,,ENST00000486342,;	.	185	222	SUCCESS
CELA2A	63036	.	GRCh37	1	15793937	15793937	+	synonymous_variant	Silent	SNP	C	C	T	rs201638508	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	35	71	0	ENST00000359621.4:c.696C>T	p.His232=	p.H232=	ENST00000359621	NM_033440.2	232	caC/caT	0	T:0	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS157.1	696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACGGCAT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF13,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	T:0.001	T:0.0001	ENSP00000352639	T:0	7/8	.	.	.	.	.	.	.	.	rs201638508	7/8	PASS	ENST00000359621	Transcript	.	T:0.0002	ENSG00000142615	24609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CEL2A_HUMAN	CELA2A	HGNC	.	.	UPI0000129E36	SNV	CELA2A,synonymous_variant,p.%3D,ENST00000359621,;CELA2B,non_coding_transcript_exon_variant,,ENST00000494280,;CELA2A,downstream_gene_variant,,ENST00000459653,;	721	71	58	SUCCESS
SWT1	54823	.	GRCh37	1	185259914	185259914	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	28	90	0	ENST00000367500.4:c.2682C>T	p.Asp894=	p.D894=	ENST00000367500	NM_017673.6	894	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS1367.1	2682	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACATGCT	NONE	.	.	hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0	.	.	ENSP00000356470	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000367500	Transcript	.	.	ENSG00000116668	16785	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SWT1_HUMAN	SWT1	HGNC	Q5TC96_HUMAN,B3KSB6_HUMAN	.	UPI000013D4C5	SNV	SWT1,synonymous_variant,p.%3D,ENST00000367501,;SWT1,synonymous_variant,p.%3D,ENST00000367500,;	2847	90	164	SUCCESS
HMCN1	83872	.	GRCh37	1	185892673	185892673	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	25	95	0	ENST00000271588.4:c.1173T>A	p.Ile391=	p.I391=	ENST00000271588	NM_031935.2	391	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS30956.1	1173	RADIA|MUTECT|MUSE|VARSCANS	.	AATATTTCTGA	NONE	.	.	hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897	.	.	ENSP00000271588	.	8/107	.	.	.	.	.	.	.	.	.	8/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	1402	95	151	SUCCESS
KIF14	9928	.	GRCh37	1	200522763	200522764	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	290	182	215	0	ENST00000367350.4:c.4699_4700del	p.Val1567ProfsTer9	p.V1567Pfs*9	ENST00000367350	NM_014875.2	1567	GTc/c	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS30963.1	4699-4700	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTGGACAATGT	NONE	.	.	hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115	.	.	ENSP00000356319	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	deletion	KIF14,frameshift_variant,p.Val1567ProfsTer9,ENST00000367350,;	5138-5139	215	472	SUCCESS
DDX59	83479	.	GRCh37	1	200635154	200635154	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780037161	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	283	82	232	0	ENST00000331314.6:c.715C>A	p.Leu239Met	p.L239M	ENST00000331314	NM_001031725.4	239	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS30964.1	715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGAAGTC	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF42,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000330460	.	2/8	.	.	.	.	.	.	.	.	rs780037161	2/8	PASS	ENST00000331314	Transcript	.	.	ENSG00000118197	25360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	tolerated(0.22)	.	DDX59_HUMAN	DDX59	HGNC	Q5T1V5_HUMAN,B7ZBU4_HUMAN,B7ZBU3_HUMAN	.	UPI00001AFE4C	SNV	DDX59,missense_variant,p.Leu239Met,ENST00000331314,;DDX59,missense_variant,p.Leu239Met,ENST00000367348,;DDX59,missense_variant,p.Leu239Met,ENST00000447706,;DDX59,upstream_gene_variant,,ENST00000429498,;DDX59,downstream_gene_variant,,ENST00000436897,;RP11-92G12.3,upstream_gene_variant,,ENST00000568695,;	929	232	366	SUCCESS
PRKCZ	5590	.	GRCh37	1	2082320	2082320	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	38	105	0	ENST00000378567.3:c.779G>A	p.Arg260His	p.R260H	ENST00000378567	NM_002744.4	260	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS37.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCGGGA	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000554,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF60,PROSITE_profiles:PS50011	.	.	ENSP00000367830	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000378567	Transcript	.	.	ENSG00000067606	9412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	KPCZ_HUMAN	PRKCZ	HGNC	J3KRP7_HUMAN,F2Z2H9_HUMAN,D6RGG1_HUMAN,D6RG01_HUMAN,D6REZ8_HUMAN,D6RDM0_HUMAN,D6RD31_HUMAN,D6RCN4_HUMAN,D6RC84_HUMAN,D6RBD4_HUMAN,D6RAU1_HUMAN,D6RAN5_HUMAN	.	UPI0000169EB7	SNV	PRKCZ,missense_variant,p.Arg77His,ENST00000470596,;PRKCZ,missense_variant,p.Arg77His,ENST00000400921,;PRKCZ,missense_variant,p.Arg77His,ENST00000470511,;PRKCZ,missense_variant,p.Arg260His,ENST00000378567,;PRKCZ,missense_variant,p.Arg77His,ENST00000400920,;PRKCZ,missense_variant,p.Arg73His,ENST00000486681,;PRKCZ,missense_variant,p.Arg77His,ENST00000470986,;PRKCZ,missense_variant,p.Arg156His,ENST00000461106,;PRKCZ,missense_variant,p.Arg73His,ENST00000497183,;PRKCZ,downstream_gene_variant,,ENST00000466352,;PRKCZ,downstream_gene_variant,,ENST00000496325,;PRKCZ,downstream_gene_variant,,ENST00000471018,;PRKCZ,downstream_gene_variant,,ENST00000468310,;PRKCZ,downstream_gene_variant,,ENST00000495347,;PRKCZ,downstream_gene_variant,,ENST00000461465,;PRKCZ,downstream_gene_variant,,ENST00000482686,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000479263,;PRKCZ,downstream_gene_variant,,ENST00000419838,;PRKCZ,missense_variant,p.Arg73His,ENST00000478770,;PRKCZ,3_prime_UTR_variant,,ENST00000481140,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000503672,;	940	105	56	SUCCESS
FMN2	56776	.	GRCh37	1	240371876	240371876	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	44	130	0	ENST00000319653.9:c.3764C>G	p.Pro1255Arg	p.P1255R	ENST00000319653	NM_020066.4	1255	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS31069.2	3764	RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCAACCC	NONE	.	.	hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF06346,SMART_domains:SM00498	.	.	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.456)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Pro1255Arg,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	3994	130	262	SUCCESS
NFIA	4774	.	GRCh37	1	61743211	61743212	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	139	78	216	0	ENST00000403491.3:c.582dup	p.Ser195GlnfsTer5	p.S195Qfs*5	ENST00000403491	NM_001134673.3	193	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS53322.1	714-715	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAGTCCCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51080,hmmpanther:PTHR11492	.	.	ENSP00000360231	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000371189	Transcript	.	.	ENSG00000162599	7784	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFIA_HUMAN	NFIA	HGNC	S4R3K4_HUMAN	.	UPI000194EC2E	insertion	NFIA,frameshift_variant,p.Ser187GlnfsTer5,ENST00000407417,;NFIA,frameshift_variant,p.Ser218GlnfsTer5,ENST00000371191,;NFIA,frameshift_variant,p.Ser240GlnfsTer5,ENST00000371189,;NFIA,frameshift_variant,p.Ser195GlnfsTer5,ENST00000485903,;NFIA,frameshift_variant,p.Ser148GlnfsTer5,ENST00000476646,;NFIA,frameshift_variant,p.Ser195GlnfsTer5,ENST00000403491,;NFIA,frameshift_variant,p.Ser195GlnfsTer5,ENST00000371187,;NFIA,intron_variant,,ENST00000371185,;NFIA,intron_variant,,ENST00000371184,;NFIA,non_coding_transcript_exon_variant,,ENST00000479364,;	796-797	216	217	SUCCESS
BRWD1	54014	.	GRCh37	21	40558988	40558988	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	82	228	0	ENST00000333229.2:c.6927A>C	p.Leu2309Phe	p.L2309F	ENST00000333229	NM_018963.4	2309	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS13662.1	6927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTTAAAAA	CODON|p.L2309fs*1|c.6926delT|4	.	.	.	.	.	ENSP00000330753	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000333229	Transcript	.	.	ENSG00000185658	12760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.52)	.	BRWD1_HUMAN	BRWD1	HGNC	.	.	UPI0000163C12	SNV	BRWD1,missense_variant,p.Leu2309Phe,ENST00000333229,;BRWD1,downstream_gene_variant,,ENST00000342449,;PSMG1,upstream_gene_variant,,ENST00000380900,;PSMG1,upstream_gene_variant,,ENST00000331573,;AF129408.17,downstream_gene_variant,,ENST00000608767,;BRWD1,downstream_gene_variant,,ENST00000446924,;PSMG1,upstream_gene_variant,,ENST00000431628,;PSMG1,upstream_gene_variant,,ENST00000411828,;	7255	228	204	SUCCESS
TUBA3FP	113691	.	GRCh37	22	21363573	21363573	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1385672896	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	82	0	ENST00000422086.1:n.883C>T		p.*295*	ENST00000422086				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	GCTCCGTCATG	NONE	.	2837	.	.	.	ENSP00000446823	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000547793	Transcript	.	.	ENSG00000269103	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC002472.1	Clone_based_ensembl_gene	H0YHC8_HUMAN	.	UPI00015DF7A3	SNV	AC002472.1,upstream_gene_variant,,ENST00000547793,;THAP7-AS1,non_coding_transcript_exon_variant,,ENST00000452284,;THAP7-AS1,intron_variant,,ENST00000436079,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000292748,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000422086,;P2RX6,upstream_gene_variant,,ENST00000591411,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000442739,;	.	82	94	SUCCESS
TUBA3FP	113691	.	GRCh37	22	21363577	21363577	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	35	83	0	ENST00000422086.1:n.879A>G		p.*293*	ENST00000422086				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	CGTCATGGCCA	NONE	.	2841	.	.	.	ENSP00000446823	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000547793	Transcript	.	.	ENSG00000269103	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC002472.1	Clone_based_ensembl_gene	H0YHC8_HUMAN	.	UPI00015DF7A3	SNV	AC002472.1,upstream_gene_variant,,ENST00000547793,;THAP7-AS1,non_coding_transcript_exon_variant,,ENST00000452284,;THAP7-AS1,intron_variant,,ENST00000436079,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000292748,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000422086,;P2RX6,upstream_gene_variant,,ENST00000591411,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000442739,;	.	83	98	SUCCESS
NT5DC4	284958	.	GRCh37	2	113481328	113481328	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	100	0	ENST00000327581.4:c.627G>A	p.Lys209=	p.K209=	ENST00000327581		209	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	.	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAGGAGGT	NONE	.	.	hmmpanther:PTHR12103:SF18,hmmpanther:PTHR12103,Pfam_domain:PF05761,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR02244,Superfamily_domains:SSF56784	.	.	ENSP00000330247	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000327581	Transcript	.	.	ENSG00000144130	27678	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NT5D4_HUMAN	NT5DC4	HGNC	.	.	UPI0000197313	SNV	NT5DC4,synonymous_variant,p.%3D,ENST00000327581,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000497526,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000470675,;NT5DC4,upstream_gene_variant,,ENST00000462854,;NT5DC4,downstream_gene_variant,,ENST00000484666,;	678	100	106	SUCCESS
RAB3GAP1	22930	.	GRCh37	2	135809890	135809890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	94	0	ENST00000264158.8:c.13A>G	p.Ser5Gly	p.S5G	ENST00000264158	NM_012233.2	5	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS54402.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACAGTGAG	NONE	.	.	hmmpanther:PTHR21422	.	.	ENSP00000411418	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000442034	Transcript	.	.	ENSG00000115839	17063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious_low_confidence(0.04)	.	.	RAB3GAP1	HGNC	C9J837_HUMAN	.	UPI0000D4C196	SNV	RAB3GAP1,missense_variant,p.Ser5Gly,ENST00000442034,;RAB3GAP1,missense_variant,p.Ser5Gly,ENST00000264158,;RAB3GAP1,missense_variant,p.Ser5Gly,ENST00000425393,;RAB3GAP1,5_prime_UTR_variant,,ENST00000539493,;MAP3K19,upstream_gene_variant,,ENST00000414343,;MAP3K19,upstream_gene_variant,,ENST00000486077,;MAP3K19,upstream_gene_variant,,ENST00000468155,;	23	94	79	SUCCESS
FN1	2335	.	GRCh37	2	216241231	216241231	+	synonymous_variant	Silent	SNP	G	G	A	rs1255686643	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	78	0	ENST00000359671.1:c.5604C>T	p.Tyr1868=	p.Y1868=	ENST00000359671		1868	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS42814.1	5877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGTAGCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	36/46	.	.	.	.	.	.	.	.	COSM1016168,COSM1591854	36/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,synonymous_variant,p.%3D,ENST00000432072,;FN1,synonymous_variant,p.%3D,ENST00000443816,;FN1,synonymous_variant,p.%3D,ENST00000345488,;FN1,synonymous_variant,p.%3D,ENST00000354785,;FN1,synonymous_variant,p.%3D,ENST00000359671,;FN1,synonymous_variant,p.%3D,ENST00000357009,;FN1,synonymous_variant,p.%3D,ENST00000446046,;FN1,synonymous_variant,p.%3D,ENST00000357867,;FN1,synonymous_variant,p.%3D,ENST00000421182,;FN1,synonymous_variant,p.%3D,ENST00000346544,;FN1,synonymous_variant,p.%3D,ENST00000336916,;FN1,synonymous_variant,p.%3D,ENST00000456923,;FN1,synonymous_variant,p.%3D,ENST00000323926,;FN1,synonymous_variant,p.%3D,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000438981,;FN1,downstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000474036,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000461974,;FN1,upstream_gene_variant,,ENST00000485567,;FN1,upstream_gene_variant,,ENST00000460217,;	6247	78	86	SUCCESS
ABCB6	10058	.	GRCh37	2	220080755	220080755	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773712027	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	94	0	ENST00000265316.3:c.1118C>T	p.Ala373Val	p.A373V	ENST00000265316	NM_005689.2	373	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2436.1	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGCGATC	NONE	byFrequency	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000265316	.	5/19	.	.	.	.	.	.	.	.	rs773712027	5/19	PASS	ENST00000265316	Transcript	.	.	ENSG00000115657	47	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ABCB6_HUMAN	ABCB6	HGNC	U3THN0_HUMAN,H7C1R6_HUMAN	.	UPI000004C4BA	SNV	ABCB6,missense_variant,p.Ala373Val,ENST00000265316,;ABCB6,missense_variant,p.Ala327Val,ENST00000439002,;ABCB6,missense_variant,p.Ala221Val,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000361242,;ATG9A,downstream_gene_variant,,ENST00000409422,;ATG9A,downstream_gene_variant,,ENST00000396761,;ATG9A,downstream_gene_variant,,ENST00000409618,;ABCB6,3_prime_UTR_variant,,ENST00000452545,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,non_coding_transcript_exon_variant,,ENST00000492953,;ABCB6,intron_variant,,ENST00000448398,;ABCB6,intron_variant,,ENST00000417678,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000487380,;ABCB6,upstream_gene_variant,,ENST00000485773,;ABCB6,upstream_gene_variant,,ENST00000497882,;ABCB6,upstream_gene_variant,,ENST00000494639,;ABCB6,upstream_gene_variant,,ENST00000443805,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000492543,;ATG9A,downstream_gene_variant,,ENST00000409033,;	1435	94	87	SUCCESS
ANKMY1	51281	.	GRCh37	2	241494429	241494429	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	5	101	0	ENST00000272972.3:c.-78G>T		p.*26*	ENST00000272972	NM_016552.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2536.1	.	MUTECT|MUSE	.	CGGGCCCTCAG	NONE	.	.	.	.	.	ENSP00000375847	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,missense_variant,p.Gly17Cys,ENST00000441168,;ANKMY1,missense_variant,p.Gly64Cys,ENST00000405523,;ANKMY1,missense_variant,p.Gly64Cys,ENST00000361678,;ANKMY1,missense_variant,p.Gly64Cys,ENST00000411765,;ANKMY1,missense_variant,p.Gly143Cys,ENST00000403283,;ANKMY1,missense_variant,p.Gly64Cys,ENST00000401804,;ANKMY1,missense_variant,p.Gly17Cys,ENST00000536462,;ANKMY1,missense_variant,p.Gly64Cys,ENST00000373318,;ANKMY1,missense_variant,p.Gly64Cys,ENST00000406958,;ANKMY1,5_prime_UTR_variant,,ENST00000391987,;ANKMY1,5_prime_UTR_variant,,ENST00000405002,;ANKMY1,5_prime_UTR_variant,,ENST00000373320,;ANKMY1,5_prime_UTR_variant,,ENST00000418505,;ANKMY1,5_prime_UTR_variant,,ENST00000272972,;ANKMY1,5_prime_UTR_variant,,ENST00000418708,;ANKMY1,intron_variant,,ENST00000443318,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000464991,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000477316,;ANKMY1,intron_variant,,ENST00000484526,;	290	101	92	SUCCESS
ZNF638	27332	.	GRCh37	2	71577248	71577248	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	63	0	ENST00000264447.4:c.1164G>A	p.Val388=	p.V388=	ENST00000264447	NM_001014972.2	388	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1917.1	1164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTGAAAGC	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,synonymous_variant,p.%3D,ENST00000409544,;ZNF638,synonymous_variant,p.%3D,ENST00000264447,;ZNF638,synonymous_variant,p.%3D,ENST00000377802,;ZNF638,synonymous_variant,p.%3D,ENST00000355812,;ZNF638,downstream_gene_variant,,ENST00000417778,;ZNF638,downstream_gene_variant,,ENST00000437658,;ZNF638,downstream_gene_variant,,ENST00000454122,;ZNF638,downstream_gene_variant,,ENST00000455226,;ZNF638,downstream_gene_variant,,ENST00000454278,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000466975,;ZNF638,intron_variant,,ENST00000464375,;ZNF638,intron_variant,,ENST00000466330,;ZNF638,intron_variant,,ENST00000494621,;ZNF638,intron_variant,,ENST00000475743,;ZNF638,downstream_gene_variant,,ENST00000487707,;	1794	63	52	SUCCESS
VWA3B	200403	.	GRCh37	2	98887262	98887262	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	139	349	0	ENST00000477737.1:c.2961C>A	p.Ile987=	p.I987=	ENST00000477737	NM_144992.4	987	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS42718.1	2961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCCTAGC	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,synonymous_variant,p.%3D,ENST00000477737,;VWA3B,synonymous_variant,p.%3D,ENST00000473149,;VWA3B,non_coding_transcript_exon_variant,,ENST00000490947,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	3165	350	372	SUCCESS
ITGB5	3693	.	GRCh37	3	124560396	124560396	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	68	0	ENST00000296181.4:c.614A>C	p.Tyr205Ser	p.Y205S	ENST00000296181	NM_002213.3	205	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS3030.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGTAACTA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00327,SMART_domains:SM00187,Superfamily_domains:SSF53300	.	.	ENSP00000296181	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.13)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Tyr2Ser,ENST00000496703,;ITGB5,missense_variant,p.Tyr97Ser,ENST00000608657,;ITGB5,missense_variant,p.Tyr205Ser,ENST00000296181,;ITGB5,missense_variant,p.Tyr49Ser,ENST00000488466,;ITGB5,splice_region_variant,,ENST00000465464,;	911	68	63	SUCCESS
FOXL2	668	.	GRCh37	3	138664931	138664931	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs750300712	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	363	22	463	0	ENST00000330315.3:c.634C>G	p.Pro212Ala	p.P212A	ENST00000330315	NM_023067.3	212	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS3105.1	634	MUTECT|MUSE	.	CATGGGTGAGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF105	.	.	ENSP00000333188	.	1/1	.	.	.	.	.	.	.	.	rs750300712	1/1	PASS	ENST00000330315	Transcript	.	.	ENSG00000183770	1092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.539)	.	deleterious(0.01)	.	FOXL2_HUMAN	FOXL2	HGNC	Q53ZD3_HUMAN,Q4JHB7_HUMAN,Q4JHB5_HUMAN	.	UPI0000050DB3	SNV	FOXL2,missense_variant,p.Pro212Ala,ENST00000330315,;C3orf72,upstream_gene_variant,,ENST00000383165,;RP11-548O1.3,upstream_gene_variant,,ENST00000483650,;RP11-548O1.3,upstream_gene_variant,,ENST00000495287,;RP11-548O1.3,upstream_gene_variant,,ENST00000477059,;C3orf72,upstream_gene_variant,,ENST00000470680,;C3orf72,upstream_gene_variant,,ENST00000498709,;	1052	463	385	SUCCESS
SCN10A	6336	.	GRCh37	3	38739634	38739634	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761742228	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	111	0	ENST00000449082.2:c.5077G>A	p.Gly1693Arg	p.G1693R	ENST00000449082	NM_006514.2	1693	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS33736.1	5077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCACAGT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000390600	.	27/27	.	.	.	.	.	.	.	.	rs761742228	27/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Gly1693Arg,ENST00000449082,;	5077	111	130	SUCCESS
RFT1	91869	.	GRCh37	3	53125943	53125943	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	49	163	1	ENST00000296292.3:c.1602C>G	p.Pro534=	p.P534=	ENST00000296292	NM_052859.3	534	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS2869.1	1602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTGGGCAC	NONE	.	.	hmmpanther:PTHR13117	.	.	ENSP00000296292	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000296292	Transcript	.	.	ENSG00000163933	30220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFT1_HUMAN	RFT1	HGNC	.	.	UPI000000DA67	SNV	RFT1,synonymous_variant,p.%3D,ENST00000296292,;RFT1,synonymous_variant,p.%3D,ENST00000394738,;RP11-894J14.5,intron_variant,,ENST00000607495,;RP11-894J14.5,intron_variant,,ENST00000607283,;RP11-894J14.5,intron_variant,,ENST00000607203,;	1664	164	117	SUCCESS
ELF2	1998	.	GRCh37	4	139994674	139994674	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1241203866	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	71	224	0	ENST00000379550.1:c.286A>G	p.Ile96Val	p.I96V	ENST00000379550		96	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3744.1	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATTGTCT	NONE	.	.	hmmpanther:PTHR11849:SF10,hmmpanther:PTHR11849,Pfam_domain:PF12310	.	.	ENSP00000377782	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000394235	Transcript	.	.	ENSG00000109381	3317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0.01)	.	ELF2_HUMAN	ELF2	HGNC	.	.	UPI0000073EF0	SNV	ELF2,missense_variant,p.Ile36Val,ENST00000379549,;ELF2,missense_variant,p.Ile96Val,ENST00000379550,;ELF2,missense_variant,p.Ile96Val,ENST00000265495,;ELF2,missense_variant,p.Ile36Val,ENST00000510408,;ELF2,missense_variant,p.Ile36Val,ENST00000358635,;ELF2,missense_variant,p.Ile36Val,ENST00000512627,;ELF2,missense_variant,p.Ile96Val,ENST00000394235,;ELF2,missense_variant,p.Ile36Val,ENST00000420916,;ELF2,non_coding_transcript_exon_variant,,ENST00000514606,;ELF2,non_coding_transcript_exon_variant,,ENST00000514577,;ELF2,upstream_gene_variant,,ENST00000504314,;	789	224	201	SUCCESS
WDFY3	23001	.	GRCh37	4	85742383	85742383	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1401673076	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	5	205	1	ENST00000295888.4:c.1445C>T	p.Ala482Val	p.A482V	ENST00000295888	NM_014991.4	482	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3609.1	1445	MUTECT|MUSE	.	TCATTGCAATA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	11/68	.	.	.	.	.	.	.	.	.	11/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.909)	.	deleterious(0.02)	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,missense_variant,p.Ala482Val,ENST00000295888,;WDFY3,missense_variant,p.Ala482Val,ENST00000322366,;WDFY3,non_coding_transcript_exon_variant,,ENST00000426414,;	1853	206	119	SUCCESS
SLC12A2	6558	.	GRCh37	5	127483354	127483354	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	146	0	ENST00000262461.2:c.1814C>G	p.Ala605Gly	p.A605G	ENST00000262461	NM_001046.2	605	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS4144.1	1814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCAGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF58,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324	.	.	ENSP00000262461	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,missense_variant,p.Ala605Gly,ENST00000343225,;SLC12A2,missense_variant,p.Ala605Gly,ENST00000262461,;SLC12A2,missense_variant,p.Ala605Gly,ENST00000509205,;	2003	146	96	SUCCESS
PCDHB5	26167	.	GRCh37	5	140516627	140516627	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	71	117	0	ENST00000231134.5:c.1611C>T	p.Ser537=	p.S537=	ENST00000231134	NM_015669.2	537	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4247.1	1611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCCCGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,synonymous_variant,p.%3D,ENST00000231134,;	1828	117	165	SUCCESS
LRRC70	100130733	.	GRCh37	5	61877102	61877102	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	85	242	0	ENST00000334994.5:c.1837C>T	p.Gln613Ter	p.Q613*	ENST00000334994	NM_181506.4	613	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47218.1	1837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCACAGGTC	NONE	.	.	.	.	.	ENSP00000399441	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334994	Transcript	.	.	ENSG00000186105	35155	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRR70_HUMAN	LRRC70	HGNC	.	.	UPI000004C632	SNV	LRRC70,stop_gained,p.Gln613Ter,ENST00000334994,;IPO11,intron_variant,,ENST00000511713,;IPO11,intron_variant,,ENST00000409534,;IPO11,intron_variant,,ENST00000409296,;IPO11,intron_variant,,ENST00000325324,;LRRC70,downstream_gene_variant,,ENST00000491184,;LRRC70,non_coding_transcript_exon_variant,,ENST00000448151,;IPO11,intron_variant,,ENST00000511133,;IPO11,3_prime_UTR_variant,,ENST00000413749,;IPO11,downstream_gene_variant,,ENST00000424533,;	2076	242	262	SUCCESS
ERBB2IP	0	.	GRCh37	5	65309395	65309395	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	95	0	ENST00000284037.5:c.405T>C	p.Ser135=	p.S135=	ENST00000284037	NM_001253697.1	135	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS58952.1	405	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTCAGCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF421,Gene3D:3.80.10.10,Superfamily_domains:SSF52058,Superfamily_domains:SSF52047	.	.	ENSP00000426632	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,synonymous_variant,p.%3D,ENST00000380935,;ERBB2IP,synonymous_variant,p.%3D,ENST00000511297,;ERBB2IP,synonymous_variant,p.%3D,ENST00000284037,;ERBB2IP,synonymous_variant,p.%3D,ENST00000508515,;ERBB2IP,synonymous_variant,p.%3D,ENST00000380943,;ERBB2IP,synonymous_variant,p.%3D,ENST00000380938,;ERBB2IP,synonymous_variant,p.%3D,ENST00000380936,;ERBB2IP,synonymous_variant,p.%3D,ENST00000506030,;ERBB2IP,synonymous_variant,p.%3D,ENST00000380939,;ERBB2IP,synonymous_variant,p.%3D,ENST00000416865,;	496	95	98	SUCCESS
BAI3	0	.	GRCh37	6	70037730	70037730	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	95	0	ENST00000370598.1:c.2984T>G	p.Val995Gly	p.V995G	ENST00000370598	NM_001704.2	995	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS4968.1	2984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGTGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF40,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000359630	.	22/32	.	.	.	.	.	.	.	.	COSM22138,COSM1445652	22/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,missense_variant,p.Val201Gly,ENST00000238918,;BAI3,missense_variant,p.Val995Gly,ENST00000370598,;BAI3,upstream_gene_variant,,ENST00000546190,;BAI3,downstream_gene_variant,,ENST00000603207,;	3805	95	108	SUCCESS
KIAA1324L	0	.	GRCh37	7	86554856	86554856	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1438684087	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	106	0	ENST00000450689.2:c.1387G>A	p.Asp463Asn	p.D463N	ENST00000450689	NM_001142749.2	463	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47632.1	1387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCGCACT	NONE	.	.	hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	.	.	ENSP00000413445	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.22)	.	tolerated(0.11)	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,missense_variant,p.Asp296Asn,ENST00000416314,;KIAA1324L,missense_variant,p.Asp223Asn,ENST00000297222,;KIAA1324L,missense_variant,p.Asp463Asn,ENST00000444627,;KIAA1324L,missense_variant,p.Asp424Asn,ENST00000423294,;KIAA1324L,missense_variant,p.Asp463Asn,ENST00000450689,;KIAA1324L,upstream_gene_variant,,ENST00000474609,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;	1573	106	104	SUCCESS
PDAP1	11333	.	GRCh37	7	98997955	98997955	+	synonymous_variant	Silent	SNP	G	G	A	rs148987199	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	97	0	ENST00000350498.3:c.306C>T	p.Asp102=	p.D102=	ENST00000350498	NM_014891.6	102	gaC/gaT	0	A:0	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS5662.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGTCCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR22055,Pfam_domain:PF10252	A:0	A:0.0001	ENSP00000222968	A:0.001	4/6	.	.	.	.	.	.	.	.	rs148987199	4/6	PASS	ENST00000350498	Transcript	.	A:0.0002	ENSG00000106244	14634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	HAP28_HUMAN	PDAP1	HGNC	.	.	UPI000012CB07	SNV	PDAP1,synonymous_variant,p.%3D,ENST00000350498,;PDAP1,upstream_gene_variant,,ENST00000496335,;PDAP1,3_prime_UTR_variant,,ENST00000426447,;PDAP1,downstream_gene_variant,,ENST00000488214,;	587	97	93	SUCCESS
CSMD3	114788	.	GRCh37	8	113293433	113293433	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	21	143	0	ENST00000297405.5:c.9478A>G	p.Thr3160Ala	p.T3160A	ENST00000297405	NM_198123.1	3160	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS6315.1	9478	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTTCCAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	59/71	.	.	.	.	.	.	.	.	.	59/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.411)	.	deleterious(0.01)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Thr3090Ala,ENST00000352409,;CSMD3,missense_variant,p.Thr2991Ala,ENST00000455883,;CSMD3,missense_variant,p.Thr3160Ala,ENST00000297405,;CSMD3,missense_variant,p.Thr2430Ala,ENST00000339701,;CSMD3,missense_variant,p.Thr3120Ala,ENST00000343508,;	9723	143	158	SUCCESS
C8orf33	65265	.	GRCh37	8	146277849	146277849	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs375967102	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	35	0	ENST00000331434.6:c.-29C>T		p.*10*	ENST00000331434	NM_023080.2			0	T:0.0005	.	.	.	.	T	.	protein_coding	YES	CCDS34974.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCCCGCGT	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000330361	.	1/5	.	.	.	.	.	.	.	.	rs375967102	1/5	PASS	ENST00000331434	Transcript	.	.	ENSG00000182307	26104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CH033_HUMAN	C8orf33	HGNC	.	.	UPI0000070F82	SNV	C8orf33,5_prime_UTR_variant,,ENST00000331434,;C8orf33,upstream_gene_variant,,ENST00000534350,;C8orf33,upstream_gene_variant,,ENST00000529593,;C8orf33,upstream_gene_variant,,ENST00000530455,;C8orf33,upstream_gene_variant,,ENST00000524395,;AC139103.1,downstream_gene_variant,,ENST00000534696,;	86	35	47	SUCCESS
ARHGEF10	9639	.	GRCh37	8	1851631	1851631	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	46	0	ENST00000398564.1:c.1896+14T>C		p.*632*	ENST00000398564				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34794.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTTTCTTC	NONE	.	.	.	.	.	ENSP00000340297	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000349830	Transcript	1	.	ENSG00000104728	14103	.	.	MODIFIER	16/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHGA_HUMAN	ARHGEF10	HGNC	.	.	UPI00005054FE	SNV	ARHGEF10,missense_variant,p.Phe598Ser,ENST00000398560,;ARHGEF10,intron_variant,,ENST00000522435,;ARHGEF10,intron_variant,,ENST00000262112,;ARHGEF10,intron_variant,,ENST00000398564,;ARHGEF10,intron_variant,,ENST00000349830,;ARHGEF10,intron_variant,,ENST00000520359,;ARHGEF10,intron_variant,,ENST00000518288,;ARHGEF10,upstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;ARHGEF10,intron_variant,,ENST00000523711,;	.	46	35	SUCCESS
CHRNB3	1142	.	GRCh37	8	42586871	42586871	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	179	152	1	ENST00000289957.2:c.421G>C	p.Val141Leu	p.V141L	ENST00000289957	NM_000749.3	141	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS6134.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTGTTGTC	BUFFER|p.S137L|c.410C>T|3	.	.	Prints_domain:PR00254,Superfamily_domains:0038932,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945	.	.	ENSP00000289957	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000289957	Transcript	.	.	ENSG00000147432	1963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.01)	.	ACHB3_HUMAN	CHRNB3	HGNC	.	.	UPI0000125272	SNV	CHRNB3,missense_variant,p.Val141Leu,ENST00000289957,;	549	153	269	SUCCESS
SNAPC4	6621	.	GRCh37	9	139272186	139272186	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372472067	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	43	105	0	ENST00000298532.2:c.4093C>T	p.Arg1365Trp	p.R1365W	ENST00000298532	NM_003086.2	1365	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS6998.1	4093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGCAACA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg	.	A:0.0002	ENSP00000298532	.	21/23	.	.	.	.	.	.	.	.	rs372472067	21/23	PASS	ENST00000298532	Transcript	.	.	ENSG00000165684	11137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious(0)	.	SNPC4_HUMAN	SNAPC4	HGNC	.	.	UPI000013E4EC	SNV	SNAPC4,missense_variant,p.Arg1365Trp,ENST00000298532,;CARD9,upstream_gene_variant,,ENST00000371734,;CARD9,upstream_gene_variant,,ENST00000315908,;CARD9,upstream_gene_variant,,ENST00000371732,;CARD9,upstream_gene_variant,,ENST00000489932,;CARD9,upstream_gene_variant,,ENST00000556340,;CARD9,upstream_gene_variant,,ENST00000481053,;	4462	105	122	SUCCESS
SPRY3	10251	.	GRCh37	X	155004171	155004171	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	123	0	ENST00000302805.2:c.638G>A	p.Cys213Tyr	p.C213Y	ENST00000302805	NM_005840.1	213	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS14769.4	638	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTGTGGGC	NONE	.	.	PROSITE_profiles:PS51227,hmmpanther:PTHR12365:SF9,hmmpanther:PTHR12365,Pfam_domain:PF05210	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,missense_variant,p.Cys213Tyr,ENST00000302805,;	1069	123	103	SUCCESS
FAM47C	442444	.	GRCh37	X	37027755	37027755	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	37	60	0	ENST00000358047.3:c.1272C>G	p.Ser424=	p.S424=	ENST00000358047	NM_001013736.2	424	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS35227.1	1272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCCCATCT	NONE	.	.	hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000367913	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358047	Transcript	.	.	ENSG00000198173	25301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA47C_HUMAN	FAM47C	HGNC	.	.	UPI000041ABF8	SNV	FAM47C,synonymous_variant,p.%3D,ENST00000358047,;	1324	60	50	SUCCESS
IGBP1	3476	.	GRCh37	X	69353836	69353836	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	45	69	0	ENST00000342206.6:c.39C>A	p.Pro13=	p.P13=	ENST00000342206		13	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14396.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCGAGCT	NONE	.	.	hmmpanther:PTHR10933:SF9,hmmpanther:PTHR10933,Pfam_domain:PF04177	.	.	ENSP00000363661	.	1/6	.	.	.	.	.	.	.	.	COSM1285484	1/6	PASS	ENST00000342206	Transcript	.	.	ENSG00000089289	5461	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IGBP1_HUMAN	IGBP1	HGNC	.	.	UPI0000119C1E	SNV	IGBP1,synonymous_variant,p.%3D,ENST00000342206,;IGBP1,synonymous_variant,p.%3D,ENST00000356413,;MTND4P31,upstream_gene_variant,,ENST00000425607,;	538	69	61	SUCCESS
ARR3	407	.	GRCh37	X	69498423	69498423	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	142	198	1	ENST00000307959.8:c.837C>A	p.Cys279Ter	p.C279*	ENST00000307959	NM_004312.2	279	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS14399.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCCAGAA	NONE	.	.	hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF19,Gene3D:1g4mB02,Pfam_domain:PF02752,SMART_domains:SM01017,Superfamily_domains:SSF81296,Prints_domain:PR00309	.	.	ENSP00000311538	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000307959	Transcript	.	.	ENSG00000120500	710	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARRC_HUMAN	ARR3	HGNC	D6RCT3_HUMAN	.	UPI0000457850	SNV	ARR3,stop_gained,p.Cys279Ter,ENST00000374495,;ARR3,stop_gained,p.Cys279Ter,ENST00000307959,;RAB41,upstream_gene_variant,,ENST00000374473,;RAB41,upstream_gene_variant,,ENST00000276066,;RAB41,upstream_gene_variant,,ENST00000509895,;ARR3,downstream_gene_variant,,ENST00000480877,;	888	199	191	SUCCESS
UTY	7404	.	GRCh37	Y	15447912	15447912	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	67	77	0	ENST00000331397.4:c.2074G>A	p.Asp692Asn	p.D692N	ENST00000331397	NM_001258267.1	692	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS14783.1	2074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCAGCAC	NONE	.	.	hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF17	.	.	ENSP00000328939	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000331397	Transcript	.	.	ENSG00000183878	12638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.48)	.	UTY_HUMAN	UTY	HGNC	Q9P108_HUMAN,Q86UB8_HUMAN,Q590G7_HUMAN,F4MH39_HUMAN	.	UPI00001B3DBF	SNV	UTY,missense_variant,p.Asp659Asn,ENST00000538878,;UTY,missense_variant,p.Asp737Asn,ENST00000382896,;UTY,missense_variant,p.Asp689Asn,ENST00000540140,;UTY,missense_variant,p.Asp613Asn,ENST00000537580,;UTY,missense_variant,p.Asp692Asn,ENST00000362096,;UTY,missense_variant,p.Asp767Asn,ENST00000545955,;UTY,missense_variant,p.Asp692Asn,ENST00000329134,;UTY,missense_variant,p.Asp692Asn,ENST00000331397,;	3082	77	88	SUCCESS
NFKB2	4791	.	GRCh37	10	104156557	104156557	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	25	62	0	ENST00000369966.3:c.220C>G	p.Arg74Gly	p.R74G	ENST00000369966	NM_001077494.2	74	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS41564.1	220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCGAAAG	NONE	.	.	Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR24169:SF19,hmmpanther:PTHR24169,PROSITE_profiles:PS50254	.	.	ENSP00000358983	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000369966	Transcript	1	.	ENSG00000077150	7795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	deleterious(0)	.	NFKB2_HUMAN	NFKB2	HGNC	M0R119_HUMAN,M0QZX1_HUMAN	.	UPI000016A5CD	SNV	NFKB2,missense_variant,p.Arg74Gly,ENST00000369966,;NFKB2,missense_variant,p.Arg74Gly,ENST00000428099,;NFKB2,missense_variant,p.Arg74Gly,ENST00000189444,;NFKB2,downstream_gene_variant,,ENST00000601386,;NFKB2,downstream_gene_variant,,ENST00000471698,;NFKB2,downstream_gene_variant,,ENST00000593908,;NFKB2,upstream_gene_variant,,ENST00000336486,;NFKB2,non_coding_transcript_exon_variant,,ENST00000467116,;NFKB2,upstream_gene_variant,,ENST00000473400,;	470	62	109	SUCCESS
ACSL5	51703	.	GRCh37	10	114169431	114169431	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	80	0	ENST00000354273.4:c.699A>T	p.Leu233=	p.L233=	ENST00000354273		233	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7572.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTATATGA	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF143,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000348429	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000356116	Transcript	.	.	ENSG00000197142	16526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSL5_HUMAN	ACSL5	HGNC	.	.	UPI000003ED0C	SNV	ACSL5,synonymous_variant,p.%3D,ENST00000356116,;ACSL5,synonymous_variant,p.%3D,ENST00000354273,;ACSL5,synonymous_variant,p.%3D,ENST00000433418,;ACSL5,synonymous_variant,p.%3D,ENST00000354655,;ACSL5,synonymous_variant,p.%3D,ENST00000393081,;ACSL5,5_prime_UTR_variant,,ENST00000369410,;RP11-324O2.3,upstream_gene_variant,,ENST00000449782,;RP11-324O2.6,downstream_gene_variant,,ENST00000424422,;RP11-324O2.3,upstream_gene_variant,,ENST00000594870,;RP11-324O2.3,upstream_gene_variant,,ENST00000598447,;ACSL5,non_coding_transcript_exon_variant,,ENST00000495539,;ACSL5,downstream_gene_variant,,ENST00000479936,;ACSL5,upstream_gene_variant,,ENST00000467340,;	979	80	118	SUCCESS
WAC	51322	.	GRCh37	10	28897314	28897314	+	synonymous_variant	Silent	SNP	G	G	A	rs377502318	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	112	0	ENST00000354911.4:c.1119G>A	p.Thr373=	p.T373=	ENST00000354911	NM_016628.4	373	acG/acA	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS7159.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCTGCA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF5	.	A:0.0001	ENSP00000346986	.	8/14	.	.	.	.	.	.	.	.	rs377502318	8/14	PASS	ENST00000354911	Transcript	.	.	ENSG00000095787	17327	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WAC_HUMAN	WAC	HGNC	J3QTA0_HUMAN,E9PMZ7_HUMAN,C9JVK6_HUMAN,C9JMU2_HUMAN,C9JD58_HUMAN	.	UPI000013D398	SNV	WAC,synonymous_variant,p.%3D,ENST00000347934,;WAC,synonymous_variant,p.%3D,ENST00000375664,;WAC,synonymous_variant,p.%3D,ENST00000375646,;WAC,synonymous_variant,p.%3D,ENST00000354911,;WAC,synonymous_variant,p.%3D,ENST00000428935,;WAC,synonymous_variant,p.%3D,ENST00000439676,;WAC,3_prime_UTR_variant,,ENST00000424454,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,non_coding_transcript_exon_variant,,ENST00000495268,;WAC,non_coding_transcript_exon_variant,,ENST00000476046,;	1280	112	116	SUCCESS
C11orf52	91894	.	GRCh37	11	111789635	111789635	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	63	0	ENST00000278601.5:c.-62C>T		p.*21*	ENST00000278601	NM_080659.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8353.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCCGGAA	NONE	.	.	.	.	.	ENSP00000278601	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000278601	Transcript	.	.	ENSG00000149300	30531	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CK052_HUMAN	C11orf52	HGNC	E9PPX5_HUMAN	.	UPI000013DB82	SNV	C11orf52,5_prime_UTR_variant,,ENST00000278601,;C11orf52,5_prime_UTR_variant,,ENST00000529342,;CRYAB,intron_variant,,ENST00000527950,;HSPB2,downstream_gene_variant,,ENST00000537382,;HSPB2,downstream_gene_variant,,ENST00000304298,;C11orf52,upstream_gene_variant,,ENST00000527286,;HSPB2-C11orf52,3_prime_UTR_variant,,ENST00000534100,;HSPB2-C11orf52,downstream_gene_variant,,ENST00000527616,;	35	63	65	SUCCESS
CDON	50937	.	GRCh37	11	125830853	125830853	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	42	132	0	ENST00000392693.3:c.3848A>T	p.Gln1283Leu	p.Q1283L	ENST00000392693	NM_001243597.1	1283	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS58192.1	3848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGCTGA	NONE	.	.	.	.	.	ENSP00000376458	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000392693	Transcript	.	.	ENSG00000064309	17104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.701)	.	deleterious_low_confidence(0)	.	CDON_HUMAN	CDON	HGNC	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN	.	UPI0000E0013A	SNV	CDON,missense_variant,p.Gln637Leu,ENST00000531738,;CDON,missense_variant,p.Gln1260Leu,ENST00000263577,;CDON,missense_variant,p.Gln1283Leu,ENST00000392693,;RP11-680F20.12,downstream_gene_variant,,ENST00000582823,;RP11-680F20.6,downstream_gene_variant,,ENST00000531193,;	3976	132	179	SUCCESS
FANCF	2188	.	GRCh37	11	22646577	22646577	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	15	103	0	ENST00000327470.3:c.780G>A	p.Leu260=	p.L260=	ENST00000327470	NM_022725.3	260	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7857.1	780	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCAAAAG	NONE	.	.	hmmpanther:PTHR14449,hmmpanther:PTHR14449:SF2,Pfam_domain:PF11107	.	.	ENSP00000330875	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327470	Transcript	.	.	ENSG00000183161	3587	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FANCF_HUMAN	FANCF	HGNC	A3KME0_HUMAN	.	UPI000012A4CA	SNV	FANCF,synonymous_variant,p.%3D,ENST00000327470,;AC103801.2,upstream_gene_variant,,ENST00000428556,;GAS2,upstream_gene_variant,,ENST00000528582,;	811	103	117	SUCCESS
LRRC56	115399	.	GRCh37	11	541550	541550	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143908864	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	51	0	ENST00000270115.7:c.191G>T	p.Arg64Leu	p.R64L	ENST00000270115	NM_198075.3	64	cGg/cTg	0	C:0.003	C:0.003	.	C:0.0029	.	T	R/L	protein_coding	YES	CCDS7700.1	191	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGGGTGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22708:SF0,hmmpanther:PTHR22708	C:0	C:0	ENSP00000270115	C:0	5/14	.	.	.	.	.	.	.	.	rs143908864	5/14	PASS	ENST00000270115	Transcript	.	C:0.0012	ENSG00000161328	25430	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	C:0	tolerated(0.18)	.	LRC56_HUMAN	LRRC56	HGNC	.	.	UPI000007425F	SNV	LRRC56,missense_variant,p.Arg64Leu,ENST00000270115,;HRAS,upstream_gene_variant,,ENST00000468682,;	691	51	81	SUCCESS
TRIM3	10612	.	GRCh37	11	6486929	6486929	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs370579436	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	25	0	ENST00000345851.3:c.-4C>T		p.*2*	ENST00000345851	NM_033278.3			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS7764.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGCCCAC	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000433102	.	2/12	.	.	.	.	.	.	.	.	rs370579436	2/12	PASS	ENST00000525074	Transcript	.	.	ENSG00000110171	10064	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRIM3_HUMAN	TRIM3	HGNC	E9PMW5_HUMAN,E9PMK8_HUMAN,D3DQT3_HUMAN,B3KV53_HUMAN	.	UPI000013C8BA	SNV	TRIM3,5_prime_UTR_variant,,ENST00000345851,;TRIM3,5_prime_UTR_variant,,ENST00000528227,;TRIM3,5_prime_UTR_variant,,ENST00000525074,;TRIM3,5_prime_UTR_variant,,ENST00000537602,;TRIM3,5_prime_UTR_variant,,ENST00000359518,;TRIM3,5_prime_UTR_variant,,ENST00000529529,;TRIM3,intron_variant,,ENST00000536344,;TRIM3,intron_variant,,ENST00000528932,;	392	25	43	SUCCESS
KDM2A	22992	.	GRCh37	11	67015791	67015791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	33	159	0	ENST00000529006.2:c.2005T>A	p.Cys669Ser	p.C669S	ENST00000529006	NM_012308.2	669	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS44657.1	2005	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATTGCTGG	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,PROSITE_profiles:PS50016	.	.	ENSP00000432786	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000529006	Transcript	.	.	ENSG00000173120	13606	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.974)	.	tolerated(0.18)	.	KDM2A_HUMAN	KDM2A	HGNC	I3VM54_HUMAN,I3VM53_HUMAN	.	UPI00001678A9	SNV	KDM2A,missense_variant,p.Cys669Ser,ENST00000398645,;KDM2A,missense_variant,p.Cys127Ser,ENST00000308783,;KDM2A,missense_variant,p.Cys669Ser,ENST00000529006,;KDM2A,missense_variant,p.Cys230Ser,ENST00000530342,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000534486,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525041,;KDM2A,non_coding_transcript_exon_variant,,ENST00000529124,;KDM2A,upstream_gene_variant,,ENST00000524657,;KDM2A,downstream_gene_variant,,ENST00000517637,;	2451	159	183	SUCCESS
SLC5A8	160728	.	GRCh37	12	101573838	101573838	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200408412	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	103	0	ENST00000536262.2:c.1202C>T	p.Ala401Val	p.A401V	ENST00000536262	NM_145913.3	401	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9080.1	1202	RADIA|MUSE|VARSCANS	.	CCAGCGCAGCC	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000445340	.	10/15	.	.	.	.	.	.	.	.	rs200408412	10/15	PASS	ENST00000536262	Transcript	.	.	ENSG00000256870	19119	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.032)	.	tolerated(0.32)	.	SC5A8_HUMAN	SLC5A8	HGNC	.	.	UPI000004DAF6	SNV	SLC5A8,missense_variant,p.Ala401Val,ENST00000536262,;	1761	104	179	SUCCESS
OAS1	4938	.	GRCh37	12	113357264	113357264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	25	86	0	ENST00000202917.5:c.1109C>A	p.Thr370Lys	p.T370K	ENST00000202917	NM_016816.2	370	aCa/aAa	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31905.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACACATG	NONE	.	.	.	.	.	ENSP00000388001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000445409	Transcript	.	.	ENSG00000089127	8086	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OAS1_HUMAN	OAS1	HGNC	Q1P9K4_HUMAN	.	UPI00005B2E03	SNV	OAS1,missense_variant,p.Thr370Lys,ENST00000202917,;OAS1,intron_variant,,ENST00000445409,;OAS1,intron_variant,,ENST00000551241,;OAS1,intron_variant,,ENST00000552526,;OAS1,downstream_gene_variant,,ENST00000550689,;OAS1,downstream_gene_variant,,ENST00000550883,;OAS1,downstream_gene_variant,,ENST00000452357,;OAS1,downstream_gene_variant,,ENST00000553152,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS1,downstream_gene_variant,,ENST00000549820,;OAS1,upstream_gene_variant,,ENST00000540589,;	.	86	117	SUCCESS
UBC	7316	.	GRCh37	12	125397889	125397889	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	104	0	ENST00000339647.5:c.429G>T	p.Leu143=	p.L143=	ENST00000339647	NM_021009.5	143	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9260.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCAGGGT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF94,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000441543	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000536769	Transcript	.	.	ENSG00000150991	12468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBC_HUMAN	UBC	HGNC	Q9UFQ0_HUMAN,Q96C32_HUMAN,Q5PY61_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,J3QS39_HUMAN,J3QKN0_HUMAN,F5H747_HUMAN,F5H6Q2_HUMAN,F5H388_HUMAN,F5H2Z3_HUMAN,F5H265_HUMAN,F5H041_HUMAN,F5GZ39_HUMAN,F5GYU3_HUMAN,F5GXK7_HUMAN,A8CGI2_HUMAN	.	UPI000013DC28	SNV	UBC,synonymous_variant,p.%3D,ENST00000536769,;UBC,synonymous_variant,p.%3D,ENST00000538617,;UBC,synonymous_variant,p.%3D,ENST00000541645,;UBC,synonymous_variant,p.%3D,ENST00000339647,;UBC,synonymous_variant,p.%3D,ENST00000535131,;UBC,synonymous_variant,p.%3D,ENST00000540351,;UBC,intron_variant,,ENST00000546120,;UBC,intron_variant,,ENST00000541272,;UBC,downstream_gene_variant,,ENST00000546271,;UBC,downstream_gene_variant,,ENST00000542416,;UBC,downstream_gene_variant,,ENST00000540700,;UBC,downstream_gene_variant,,ENST00000535859,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,downstream_gene_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,;	2006	104	131	SUCCESS
SLC15A4	121260	.	GRCh37	12	129308302	129308302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	14	0	ENST00000266771.5:c.187A>T	p.Asn63Tyr	p.N63Y	ENST00000266771	NM_145648.3	63	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9264.1	187	MUTECT|MUSE	.	CCCGTTCAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF80,Superfamily_domains:SSF103473	.	.	ENSP00000266771	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000266771	Transcript	.	.	ENSG00000139370	23090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	S15A4_HUMAN	SLC15A4	HGNC	F5GZQ7_HUMAN,B6ZDF2_HUMAN	.	UPI000006F120	SNV	SLC15A4,missense_variant,p.Asn63Tyr,ENST00000266771,;SLC15A4,upstream_gene_variant,,ENST00000376740,;SLC15A4,upstream_gene_variant,,ENST00000535272,;SLC15A4,upstream_gene_variant,,ENST00000539703,;SLC15A4,missense_variant,p.Asn9Tyr,ENST00000376744,;	227	14	21	SUCCESS
EMP1	2012	.	GRCh37	12	13366426	13366426	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	34	146	0	ENST00000256951.5:c.92C>A	p.Ser31Tyr	p.S31Y	ENST00000256951	NM_001423.2	31	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS8660.1	92	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCCAATA	NONE	.	.	hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF6,PROSITE_patterns:PS01221,Pfam_domain:PF00822,Prints_domain:PR01454	.	.	ENSP00000256951	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000256951	Transcript	.	.	ENSG00000134531	3333	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.879)	.	tolerated(0.09)	.	EMP1_HUMAN	EMP1	HGNC	J3KQX4_HUMAN	.	UPI000000DBC8	SNV	EMP1,missense_variant,p.Ser31Tyr,ENST00000538364,;EMP1,missense_variant,p.Ser31Tyr,ENST00000537612,;EMP1,missense_variant,p.Ser31Tyr,ENST00000396301,;EMP1,missense_variant,p.Ser31Tyr,ENST00000256951,;EMP1,5_prime_UTR_variant,,ENST00000544053,;EMP1,intron_variant,,ENST00000431267,;EMP1,downstream_gene_variant,,ENST00000542474,;EMP1,intron_variant,,ENST00000542289,;EMP1,downstream_gene_variant,,ENST00000535134,;EMP1,non_coding_transcript_exon_variant,,ENST00000546357,;EMP1,non_coding_transcript_exon_variant,,ENST00000536383,;EMP1,downstream_gene_variant,,ENST00000541935,;	291	146	194	SUCCESS
KIF21A	55605	.	GRCh37	12	39725561	39725561	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	6	79	0	ENST00000361418.5:c.3084C>T	p.Val1028=	p.V1028=	ENST00000361418		1028	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS53776.1	3084	MUTECT|MUSE	.	TTAATGACTGC	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398,Superfamily_domains:SSF46579	.	.	ENSP00000354878	.	22/38	.	.	.	.	.	.	.	.	.	22/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,synonymous_variant,p.%3D,ENST00000552961,;KIF21A,synonymous_variant,p.%3D,ENST00000361418,;KIF21A,synonymous_variant,p.%3D,ENST00000551264,;KIF21A,synonymous_variant,p.%3D,ENST00000544797,;KIF21A,synonymous_variant,p.%3D,ENST00000395670,;KIF21A,synonymous_variant,p.%3D,ENST00000541463,;KIF21A,synonymous_variant,p.%3D,ENST00000551066,;KIF21A,synonymous_variant,p.%3D,ENST00000361961,;KIF21A,non_coding_transcript_exon_variant,,ENST00000552475,;KIF21A,synonymous_variant,p.%3D,ENST00000547108,;KIF21A,downstream_gene_variant,,ENST00000546817,;	3100	79	114	SUCCESS
PFDN5	5204	.	GRCh37	12	53689386	53689386	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs199718276	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	38	71	0	ENST00000334478.4:c.35T>A	p.Leu12Gln	p.L12Q	ENST00000334478		12	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8853.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCTGCCGC	CODON|p.L12R|c.35T>G|3	byCluster	.	HAMAP:MF_00308,hmmpanther:PTHR12674,Gene3D:1.10.287.370,TIGRFAM_domain:TIGR00293,Superfamily_domains:SSF46579	.	.	ENSP00000447942	.	1/6	.	.	.	.	.	.	.	.	rs199718276,COSM1261971	1/6	PASS	ENST00000551018	Transcript	.	.	ENSG00000123349	8869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.959)	.	deleterious(0)	0,1	PFD5_HUMAN	PFDN5	HGNC	.	.	UPI00000009FD	SNV	PFDN5,missense_variant,p.Leu12Gln,ENST00000550846,;PFDN5,missense_variant,p.Leu12Gln,ENST00000334478,;PFDN5,missense_variant,p.Leu12Gln,ENST00000351500,;PFDN5,missense_variant,p.Leu12Gln,ENST00000551018,;PFDN5,missense_variant,p.Leu8Gln,ENST00000549759,;C12orf10,upstream_gene_variant,,ENST00000549488,;ESPL1,downstream_gene_variant,,ENST00000552462,;ESPL1,downstream_gene_variant,,ENST00000257934,;C12orf10,upstream_gene_variant,,ENST00000548632,;C12orf10,upstream_gene_variant,,ENST00000267103,;RP11-680A11.5,downstream_gene_variant,,ENST00000550263,;PFDN5,missense_variant,p.Leu12Gln,ENST00000547130,;PFDN5,missense_variant,p.Leu12Gln,ENST00000243040,;PFDN5,missense_variant,p.Leu12Gln,ENST00000552742,;PFDN5,missense_variant,p.Leu12Gln,ENST00000550880,;PFDN5,non_coding_transcript_exon_variant,,ENST00000549995,;PFDN5,non_coding_transcript_exon_variant,,ENST00000547228,;PFDN5,non_coding_transcript_exon_variant,,ENST00000552341,;PFDN5,non_coding_transcript_exon_variant,,ENST00000550069,;PFDN5,non_coding_transcript_exon_variant,,ENST00000551223,;PFDN5,non_coding_transcript_exon_variant,,ENST00000550513,;C12orf10,upstream_gene_variant,,ENST00000551670,;PFDN5,upstream_gene_variant,,ENST00000553171,;ESPL1,downstream_gene_variant,,ENST00000549154,;C12orf10,upstream_gene_variant,,ENST00000548845,;PFDN5,upstream_gene_variant,,ENST00000550964,;C12orf10,upstream_gene_variant,,ENST00000551131,;PFDN5,upstream_gene_variant,,ENST00000552548,;ESPL1,downstream_gene_variant,,ENST00000552671,;PFDN5,upstream_gene_variant,,ENST00000548984,;	312	71	140	SUCCESS
ERBB3	2065	.	GRCh37	12	56495091	56495091	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	29	97	0	ENST00000267101.3:c.3448G>C	p.Gly1150Arg	p.G1150R	ENST00000267101	NM_001982.3	1150	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS31833.1	3448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGGGTTA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000619	.	.	ENSP00000267101	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.13)	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,missense_variant,p.Gly1091Arg,ENST00000415288,;ERBB3,missense_variant,p.Gly507Arg,ENST00000450146,;ERBB3,missense_variant,p.Gly1150Arg,ENST00000267101,;ERBB3,missense_variant,p.Gly457Arg,ENST00000550070,;ERBB3,missense_variant,p.Gly391Arg,ENST00000553131,;ERBB3,missense_variant,p.Gly270Arg,ENST00000549832,;RP11-603J24.9,upstream_gene_variant,,ENST00000548861,;PA2G4,upstream_gene_variant,,ENST00000552766,;PA2G4,upstream_gene_variant,,ENST00000551061,;PA2G4,upstream_gene_variant,,ENST00000303305,;PA2G4,upstream_gene_variant,,ENST00000553057,;RP11-603J24.17,downstream_gene_variant,,ENST00000548595,;ERBB3,3_prime_UTR_variant,,ENST00000551085,;ERBB3,3_prime_UTR_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000552691,;	3888	97	128	SUCCESS
LRP1	4035	.	GRCh37	12	57591115	57591115	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	106	0	ENST00000243077.3:c.9110A>G	p.Tyr3037Cys	p.Y3037C	ENST00000243077	NM_002332.2	3037	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8932.1	9110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTACTACC	NONE	.	.	hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	57/89	.	.	.	.	.	.	.	.	.	57/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Tyr3037Cys,ENST00000243077,;LRP1,upstream_gene_variant,,ENST00000555124,;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,downstream_gene_variant,,ENST00000408438,;LRP1,upstream_gene_variant,,ENST00000555941,;	9576	106	123	SUCCESS
EPSTI1	94240	.	GRCh37	13	43566216	43566216	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	79	189	0	ENST00000398762.3:c.86G>A	p.Gly29Glu	p.G29E	ENST00000398762		29	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS31964.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCCAGAA	NONE	.	.	hmmpanther:PTHR22529:SF1,hmmpanther:PTHR22529	.	.	ENSP00000318982	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000313640	Transcript	.	.	ENSG00000133106	16465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.05)	.	ESIP1_HUMAN	EPSTI1	HGNC	F5H799_HUMAN	.	UPI0000074657	SNV	EPSTI1,missense_variant,p.Gly29Glu,ENST00000398762,;EPSTI1,missense_variant,p.Gly29Glu,ENST00000313640,;EPSTI1,missense_variant,p.Gly29Glu,ENST00000313624,;EPSTI1,upstream_gene_variant,,ENST00000537828,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000476830,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000536042,;EPSTI1,upstream_gene_variant,,ENST00000542706,;EPSTI1,missense_variant,p.Gly29Glu,ENST00000538562,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;	151	189	297	SUCCESS
MYCBP2	23077	.	GRCh37	13	77650985	77650985	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	43	0	ENST00000357337.6:c.11611-1G>C		p.X3871_splice	ENST00000357337		3871		0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACCTGATG	NONE	.	.	.	.	.	ENSP00000444596	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	HIGH	67/82	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,splice_acceptor_variant,,ENST00000429715,;MYCBP2,splice_acceptor_variant,,ENST00000544440,;MYCBP2,splice_acceptor_variant,,ENST00000357337,;MYCBP2,splice_acceptor_variant,,ENST00000407578,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000422231,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000450627,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000593933,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000596342,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000448470,;MYCBP2-AS2,downstream_gene_variant,,ENST00000428716,;	.	43	66	SUCCESS
RNF219	0	.	GRCh37	13	79190261	79190261	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1029305297	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	32	89	0	ENST00000282003.6:c.1635G>A	p.Met545Ile	p.M545I	ENST00000282003	NM_024546.3	545	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31997.1	1635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACATCAT	NONE	.	.	hmmpanther:PTHR14609	.	.	ENSP00000282003	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000282003	Transcript	.	.	ENSG00000152193	20308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0.03)	.	RN219_HUMAN	RNF219	HGNC	.	.	UPI0000458868	SNV	RNF219,missense_variant,p.Met545Ile,ENST00000282003,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000560584,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000606429,;RNF219-AS1,downstream_gene_variant,,ENST00000560209,;	1694	89	108	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414494	105414495	+	inframe_insertion	In_Frame_Ins	INS	-	-	TTT	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	144	37	136	0	ENST00000333244.5:c.7291_7293dup	p.Lys2431dup	p.K2431dup	ENST00000333244	NM_138420.2	2431	-/AAA	0	.	.	.	.	.	TTT	-/K	protein_coding	YES	CCDS45177.1	7293-7294	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGCCTTTCA	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	insertion	AHNAK2,inframe_insertion,p.Lys2431dup,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7413-7414	136	181	SUCCESS
KLHL28	54813	.	GRCh37	14	45403543	45403543	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	43	157	0	ENST00000396128.4:c.1118A>G	p.Asn373Ser	p.N373S	ENST00000396128	NM_017658.3	373	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9680.1	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATTCATT	NONE	.	.	hmmpanther:PTHR24412:SF30,hmmpanther:PTHR24412,Gene3D:1k3iA02,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0047741	.	.	ENSP00000379434	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000396128	Transcript	.	.	ENSG00000179454	19741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	KLH28_HUMAN	KLHL28	HGNC	J3KRJ0_HUMAN,G3V5Y9_HUMAN,G3V4Y0_HUMAN,G3V2P9_HUMAN	.	UPI00001FD46D	SNV	KLHL28,missense_variant,p.Asn387Ser,ENST00000355081,;KLHL28,missense_variant,p.Asn373Ser,ENST00000396128,;	1238	157	162	SUCCESS
DIO2	1734	.	GRCh37	14	80669241	80669241	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	83	0	ENST00000438257.4:c.613C>A	p.Pro205Thr	p.P205T	ENST00000438257	NM_013989.4	205	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55934.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGCAAGG	NONE	.	.	hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF3,Pfam_domain:PF00837,Gene3D:3.40.30.10	.	.	ENSP00000450980	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000555750	Transcript	.	.	ENSG00000211448	2884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.04)	.	.	DIO2	HGNC	Q9C0K2_HUMAN,G3V3A8_HUMAN	.	UPI000046D384	SNV	DIO2,missense_variant,p.Pro241Thr,ENST00000555750,;DIO2,missense_variant,p.Pro205Thr,ENST00000557010,;DIO2,missense_variant,p.Pro205Thr,ENST00000438257,;DIO2,3_prime_UTR_variant,,ENST00000422005,;DIO2,3_prime_UTR_variant,,ENST00000557125,;DIO2,3_prime_UTR_variant,,ENST00000556811,;DIO2,3_prime_UTR_variant,,ENST00000555844,;	749	83	73	SUCCESS
HERC2	8924	.	GRCh37	15	28516001	28516001	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	37	133	0	ENST00000261609.7:c.1097C>T	p.Pro366Leu	p.P366L	ENST00000261609	NM_004667.5	366	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10021.1	1097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGGGCCA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	10/93	.	.	.	.	.	.	.	.	.	10/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Pro366Leu,ENST00000261609,;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,downstream_gene_variant,,ENST00000563670,;	1206	133	165	SUCCESS
EMC4	51234	.	GRCh37	15	34517292	34517292	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	59	0	ENST00000267750.4:c.-24A>C		p.*8*	ENST00000267750	NM_016454.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10035.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCGAGGCTA	NONE	.	.	.	.	.	ENSP00000267750	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000267750	Transcript	.	.	ENSG00000128463	28032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC4_HUMAN	EMC4	HGNC	.	.	UPI00000708AF	SNV	EMC4,5_prime_UTR_variant,,ENST00000559421,;EMC4,5_prime_UTR_variant,,ENST00000557879,;EMC4,5_prime_UTR_variant,,ENST00000249209,;EMC4,5_prime_UTR_variant,,ENST00000561372,;EMC4,5_prime_UTR_variant,,ENST00000267750,;EMC4,5_prime_UTR_variant,,ENST00000559078,;EMC4,upstream_gene_variant,,ENST00000560947,;EMC4,5_prime_UTR_variant,,ENST00000558205,;EMC4,5_prime_UTR_variant,,ENST00000560911,;EMC4,5_prime_UTR_variant,,ENST00000558102,;EMC4,non_coding_transcript_exon_variant,,ENST00000557941,;EMC4,upstream_gene_variant,,ENST00000561246,;EMC4,upstream_gene_variant,,ENST00000558810,;	93	59	88	SUCCESS
DENND4A	10260	.	GRCh37	15	65957785	65957785	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	96	0	ENST00000431932.2:c.5125A>G	p.Met1709Val	p.M1709V	ENST00000431932	NM_005848.3	1709	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS53949.1	5254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACATACAGT	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	30/33	.	.	.	.	.	.	.	.	.	30/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	deleterious(0.04)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Met1752Val,ENST00000443035,;DENND4A,missense_variant,p.Met1709Val,ENST00000431932,;DENND4A,upstream_gene_variant,,ENST00000561863,;SLC24A1,downstream_gene_variant,,ENST00000537259,;DENND4A,upstream_gene_variant,,ENST00000562540,;	5470	96	95	SUCCESS
PSTPIP1	9051	.	GRCh37	15	77320928	77320928	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1141043	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	82	248	0	ENST00000558012.1:c.451G>T	p.Ala151Ser	p.A151S	ENST00000558012	NM_003978.3	151	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45312.1	451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGCGGAC	NONE	.	.	hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF3,Superfamily_domains:SSF103657	.	.	ENSP00000452746	.	7/15	.	.	.	.	.	.	.	.	rs1141043	7/15	PASS	ENST00000558012	Transcript	1	.	ENSG00000140368	9580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	deleterious(0.04)	.	PPIP1_HUMAN	PSTPIP1	HGNC	.	.	UPI00000703D7	SNV	PSTPIP1,missense_variant,p.Ala142Ser,ENST00000559859,;PSTPIP1,missense_variant,p.Ala150Ser,ENST00000267939,;PSTPIP1,missense_variant,p.Ala124Ser,ENST00000559856,;PSTPIP1,missense_variant,p.Ala151Ser,ENST00000379595,;PSTPIP1,missense_variant,p.Ala151Ser,ENST00000559295,;PSTPIP1,missense_variant,p.Ala151Ser,ENST00000558012,;PSTPIP1,missense_variant,p.Ala151Ser,ENST00000559161,;PSTPIP1,downstream_gene_variant,,ENST00000558407,;PSTPIP1,upstream_gene_variant,,ENST00000558870,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000557995,;PSTPIP1,downstream_gene_variant,,ENST00000560621,;PSTPIP1,missense_variant,p.Ala216Ser,ENST00000559785,;PSTPIP1,3_prime_UTR_variant,,ENST00000560796,;PSTPIP1,3_prime_UTR_variant,,ENST00000559750,;PSTPIP1,3_prime_UTR_variant,,ENST00000560223,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560377,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000561315,;PSTPIP1,downstream_gene_variant,,ENST00000559795,;	940	248	330	SUCCESS
KIAA1199	0	.	GRCh37	15	81224345	81224347	+	inframe_deletion	In_Frame_Del	DEL	AAC	AAC	-	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	AAC	AAC	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	42	0	ENST00000220244.3:c.2761_2763del	p.Asn921del	p.N921del	ENST00000220244	NM_018689.1	920	AAC/-	0	.	.	.	.	.	-	N/-	protein_coding	YES	CCDS10315.1	2758-2760	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCATAACAACGT	NONE	.	.	Superfamily_domains:SSF51126,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	deletion	KIAA1199,inframe_deletion,p.Asn921del,ENST00000356249,;KIAA1199,inframe_deletion,p.Asn921del,ENST00000220244,;KIAA1199,inframe_deletion,p.Asn921del,ENST00000394685,;KIAA1199,upstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;KIAA1199,upstream_gene_variant,,ENST00000495041,;	3177-3179	42	56	SUCCESS
TSR3	115939	.	GRCh37	16	1399610	1399610	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs766812312	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	17	93	0	ENST00000007390.2:c.768-1G>A		p.X256_splice	ENST00000007390	NM_001001410.2	256		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10435.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCTGGGA	NONE	byFrequency	.	.	.	.	ENSP00000007390	.	.	.	.	.	.	.	.	.	.	rs766812312	.	PASS	ENST00000007390	Transcript	.	.	ENSG00000007520	14175	.	.	HIGH	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSR3_HUMAN	TSR3	HGNC	.	.	UPI000007142F	SNV	TSR3,splice_acceptor_variant,,ENST00000007390,;BAIAP3,downstream_gene_variant,,ENST00000421665,;GNPTG,upstream_gene_variant,,ENST00000529110,;BAIAP3,downstream_gene_variant,,ENST00000568887,;BAIAP3,downstream_gene_variant,,ENST00000397488,;GNPTG,upstream_gene_variant,,ENST00000204679,;BAIAP3,downstream_gene_variant,,ENST00000561793,;BAIAP3,downstream_gene_variant,,ENST00000426824,;BAIAP3,downstream_gene_variant,,ENST00000562208,;BAIAP3,downstream_gene_variant,,ENST00000566162,;BAIAP3,downstream_gene_variant,,ENST00000324385,;BAIAP3,downstream_gene_variant,,ENST00000397489,;BAIAP3,downstream_gene_variant,,ENST00000564213,;TSR3,splice_acceptor_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000561602,;GNPTG,upstream_gene_variant,,ENST00000527168,;GNPTG,upstream_gene_variant,,ENST00000529957,;GNPTG,upstream_gene_variant,,ENST00000527137,;BAIAP3,downstream_gene_variant,,ENST00000567203,;GNPTG,upstream_gene_variant,,ENST00000526820,;GNPTG,upstream_gene_variant,,ENST00000527876,;GNPTG,upstream_gene_variant,,ENST00000534197,;BAIAP3,downstream_gene_variant,,ENST00000568198,;	.	93	131	SUCCESS
SRRM2	23524	.	GRCh37	16	2815588	2815588	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1299610405	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	75	0	ENST00000301740.8:c.5059C>T	p.Arg1687Ter	p.R1687*	ENST00000301740	NM_016333.3	1687	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS32373.1	5059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCGACGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,stop_gained,p.Arg1687Ter,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;AC092117.2,upstream_gene_variant,,ENST00000581119,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,upstream_gene_variant,,ENST00000574866,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,downstream_gene_variant,,ENST00000576674,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573692,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,upstream_gene_variant,,ENST00000574331,;SRRM2,upstream_gene_variant,,ENST00000570705,;	5608	75	78	SUCCESS
MYO18A	399687	.	GRCh37	17	27442372	27442372	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	26	92	0	ENST00000527372.1:c.2315A>G	p.Asn772Ser	p.N772S	ENST00000527372	NM_078471.3	772	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45642.1	2315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTATTCACC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,PROSITE_profiles:PS51456	.	.	ENSP00000437073	.	13/42	.	.	.	.	.	.	.	.	.	13/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Asn772Ser,ENST00000354329,;MYO18A,missense_variant,p.Asn772Ser,ENST00000527372,;MYO18A,missense_variant,p.Asn772Ser,ENST00000533112,;MYO18A,missense_variant,p.Asn772Ser,ENST00000531253,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,3_prime_UTR_variant,,ENST00000588791,;MYO18A,upstream_gene_variant,,ENST00000533399,;	2496	92	138	SUCCESS
ANKRD13B	124930	.	GRCh37	17	27939496	27939496	+	synonymous_variant	Silent	SNP	G	G	A	rs1340694245	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	56	195	0	ENST00000394859.3:c.1335G>A	p.Ser445=	p.S445=	ENST00000394859	NM_152345.4	445	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11251.1	1335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCGGTGCG	NONE	.	.	hmmpanther:PTHR12447:SF3,hmmpanther:PTHR12447,Pfam_domain:PF11904	.	.	ENSP00000378328	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000394859	Transcript	.	.	ENSG00000198720	26363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN13B_HUMAN	ANKRD13B	HGNC	K7ENT0_HUMAN	.	UPI0000246D82	SNV	ANKRD13B,synonymous_variant,p.%3D,ENST00000579719,;ANKRD13B,synonymous_variant,p.%3D,ENST00000394859,;CORO6,downstream_gene_variant,,ENST00000584969,;CORO6,downstream_gene_variant,,ENST00000456796,;CORO6,downstream_gene_variant,,ENST00000345068,;CORO6,downstream_gene_variant,,ENST00000388767,;CORO6,downstream_gene_variant,,ENST00000445145,;ANKRD13B,downstream_gene_variant,,ENST00000583728,;CORO6,downstream_gene_variant,,ENST00000580212,;RP11-68I3.2,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;ANKRD13B,synonymous_variant,p.%3D,ENST00000488766,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000493506,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000487527,;CORO6,downstream_gene_variant,,ENST00000480954,;ANKRD13B,downstream_gene_variant,,ENST00000578943,;CORO6,downstream_gene_variant,,ENST00000469090,;CORO6,downstream_gene_variant,,ENST00000459686,;ANKRD13B,downstream_gene_variant,,ENST00000578811,;CORO6,downstream_gene_variant,,ENST00000467534,;CORO6,downstream_gene_variant,,ENST00000579388,;	1489	195	216	SUCCESS
KRT12	3859	.	GRCh37	17	39018821	39018821	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	24	94	0	ENST00000251643.4:c.1383T>C	p.Ser461=	p.S461=	ENST00000251643	NM_000223.3	461	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11378.1	1383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTAGAGGA	NONE	.	.	hmmpanther:PTHR23239:SF115,hmmpanther:PTHR23239	.	.	ENSP00000251643	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000251643	Transcript	.	.	ENSG00000187242	6414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C12_HUMAN	KRT12	HGNC	.	.	UPI000012DAE4	SNV	KRT12,synonymous_variant,p.%3D,ENST00000251643,;RP5-1110E20.1,intron_variant,,ENST00000579136,;	1407	94	112	SUCCESS
TUBD1	51174	.	GRCh37	17	57963509	57963509	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	54	117	0	ENST00000325752.3:c.255A>C	p.Gln85His	p.Q85H	ENST00000325752	NM_016261.3	85	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS11620.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATTGGCC	NONE	.	.	Prints_domain:PR01224,Superfamily_domains:SSF52490,SMART_domains:SM00864,Gene3D:3.40.50.1440,Pfam_domain:PF00091,hmmpanther:PTHR11588:SF4,hmmpanther:PTHR11588	.	.	ENSP00000320797	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000325752	Transcript	.	.	ENSG00000108423	16811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.3)	.	TBD_HUMAN	TUBD1	HGNC	K7EMW6_HUMAN,K7EKE2_HUMAN	.	UPI000013D7FA	SNV	TUBD1,missense_variant,p.Gln85His,ENST00000376094,;TUBD1,missense_variant,p.Gln85His,ENST00000394239,;TUBD1,missense_variant,p.Gln85His,ENST00000340993,;TUBD1,missense_variant,p.Gln85His,ENST00000325752,;TUBD1,missense_variant,p.Gln18His,ENST00000590498,;TUBD1,missense_variant,p.Gln85His,ENST00000592426,;TUBD1,intron_variant,,ENST00000539018,;TUBD1,intron_variant,,ENST00000346141,;TUBD1,downstream_gene_variant,,ENST00000592145,;TUBD1,non_coding_transcript_exon_variant,,ENST00000591611,;TUBD1,downstream_gene_variant,,ENST00000588706,;TUBD1,missense_variant,p.Gln85His,ENST00000591548,;TUBD1,missense_variant,p.Gln18His,ENST00000593110,;TUBD1,upstream_gene_variant,,ENST00000588009,;NDUFB8P2,downstream_gene_variant,,ENST00000605113,;	533	117	160	SUCCESS
INTS2	57508	.	GRCh37	17	59968916	59968916	+	synonymous_variant	Silent	SNP	G	G	T	rs761837152	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	13	143	0	ENST00000444766.3:c.1857C>A	p.Val619=	p.V619=	ENST00000444766	NM_020748.2	619	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45750.1	1857	MUTECT|MUSE	.	TCTGTGACTGG	NONE	byFrequency	.	Pfam_domain:PF14750	.	.	ENSP00000414237	.	14/25	.	.	.	.	.	.	.	.	rs761837152	14/25	PASS	ENST00000444766	Transcript	.	.	ENSG00000108506	29241	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INT2_HUMAN	INTS2	HGNC	J3KRH0_HUMAN,J3KMZ7_HUMAN	.	UPI0000E5A03A	SNV	INTS2,synonymous_variant,p.%3D,ENST00000444766,;INTS2,synonymous_variant,p.%3D,ENST00000251334,;INTS2,downstream_gene_variant,,ENST00000578805,;	1933	143	176	SUCCESS
DDX5	1655	.	GRCh37	17	62496761	62496761	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	43	121	0	ENST00000225792.5:c.1347C>T	p.Asn449=	p.N449=	ENST00000225792	NM_004396.3	449	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS11659.1	1347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATGTTATT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF182,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000225792	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000225792	Transcript	.	.	ENSG00000108654	2746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX5_HUMAN	DDX5	HGNC	J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN	.	UPI000003B456	SNV	DDX5,synonymous_variant,p.%3D,ENST00000578804,;DDX5,synonymous_variant,p.%3D,ENST00000450599,;DDX5,synonymous_variant,p.%3D,ENST00000225792,;DDX5,downstream_gene_variant,,ENST00000584279,;DDX5,downstream_gene_variant,,ENST00000583212,;DDX5,downstream_gene_variant,,ENST00000581806,;DDX5,downstream_gene_variant,,ENST00000583239,;DDX5,downstream_gene_variant,,ENST00000579091,;DDX5,downstream_gene_variant,,ENST00000578190,;POLG2,upstream_gene_variant,,ENST00000539111,;DDX5,downstream_gene_variant,,ENST00000581697,;DDX5,downstream_gene_variant,,ENST00000585060,;DDX5,downstream_gene_variant,,ENST00000579996,;DDX5,downstream_gene_variant,,ENST00000585111,;DDX5,downstream_gene_variant,,ENST00000577787,;DDX5,downstream_gene_variant,,ENST00000577922,;MIR3064,downstream_gene_variant,,ENST00000581130,;MIR5047,downstream_gene_variant,,ENST00000579212,;DDX5,non_coding_transcript_exon_variant,,ENST00000580026,;DDX5,non_coding_transcript_exon_variant,,ENST00000581237,;DDX5,downstream_gene_variant,,ENST00000578491,;DDX5,3_prime_UTR_variant,,ENST00000540698,;DDX5,3_prime_UTR_variant,,ENST00000581693,;DDX5,non_coding_transcript_exon_variant,,ENST00000578758,;DDX5,non_coding_transcript_exon_variant,,ENST00000581230,;DDX5,downstream_gene_variant,,ENST00000584549,;DDX5,downstream_gene_variant,,ENST00000585223,;DDX5,downstream_gene_variant,,ENST00000579461,;DDX5,downstream_gene_variant,,ENST00000578400,;DDX5,downstream_gene_variant,,ENST00000582326,;DDX5,downstream_gene_variant,,ENST00000583894,;DDX5,downstream_gene_variant,,ENST00000581551,;DDX5,downstream_gene_variant,,ENST00000583562,;POLG2,upstream_gene_variant,,ENST00000585141,;DDX5,downstream_gene_variant,,ENST00000583201,;POLG2,upstream_gene_variant,,ENST00000578997,;DDX5,downstream_gene_variant,,ENST00000585317,;	1749	121	155	SUCCESS
PLEKHM1P	0	.	GRCh37	17	62800952	62800952	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	39	0	ENST00000440036.2:n.852G>A		p.*284*	ENST00000440036				0	.	.	.	.	.	T	.	processed_transcript	.	.	.	MUTECT|MUSE	.	CCCATCTGCCT	NONE	.	.	.	.	.	.	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000578036	Transcript	.	.	ENSG00000214176	35411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PLEKHM1P	HGNC	.	.	.	SNV	PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000578036,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582986,;PLEKHM1P,downstream_gene_variant,,ENST00000580919,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000440036,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582201,;	1114	39	47	SUCCESS
MYH10	4628	.	GRCh37	17	8424298	8424298	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1372136199	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	42	173	0	ENST00000269243.4:c.2078A>T	p.His693Leu	p.H693L	ENST00000269243	NM_005964.3	693	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS58515.1	2171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGTGTGGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000353590	.	19/43	.	.	.	.	.	.	.	.	.	19/43	PASS	ENST00000360416	Transcript	.	.	ENSG00000133026	7568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.653)	.	.	.	MYH10_HUMAN	MYH10	HGNC	Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN	.	UPI0000E24926	SNV	MYH10,missense_variant,p.His714Leu,ENST00000396239,;MYH10,missense_variant,p.His693Leu,ENST00000269243,;MYH10,missense_variant,p.His709Leu,ENST00000379980,;MYH10,missense_variant,p.His724Leu,ENST00000360416,;MYH10,non_coding_transcript_exon_variant,,ENST00000469865,;	2310	173	210	SUCCESS
MIB1	57534	.	GRCh37	18	19399526	19399526	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	31	92	0	ENST00000261537.6:c.1748T>G	p.Leu583Trp	p.L583W	ENST00000261537	NM_020774.3	583	tTg/tGg	0	.	.	.	.	.	G	L/W	protein_coding	YES	CCDS11871.1	1748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTGGAAG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000261537	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000261537	Transcript	.	.	ENSG00000101752	21086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MIB1_HUMAN	MIB1	HGNC	B3KRA8_HUMAN	.	UPI000000D833	SNV	MIB1,missense_variant,p.Leu583Trp,ENST00000261537,;SNORA73,downstream_gene_variant,,ENST00000363107,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;MIB1,downstream_gene_variant,,ENST00000577749,;MIB1,downstream_gene_variant,,ENST00000578260,;	2012	92	111	SUCCESS
SLC25A52	147407	.	GRCh37	18	29339948	29339948	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	454	95	332	0	ENST00000579441.2:c.677del	p.Gly226AspfsTer10	p.G226Dfs*10	ENST00000579441		226	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32812.2	707	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGAATCCCAAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF253,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000372612	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000269205	Transcript	.	.	ENSG00000141437	23324	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SLC25A52	HGNC	I3L0B8_HUMAN	.	UPI000016058E	deletion	SLC25A52,frameshift_variant,p.Gly226AspfsTer10,ENST00000579441,;SLC25A52,frameshift_variant,p.Gly236AspfsTer10,ENST00000269205,;	896	332	549	SUCCESS
DCC	1630	.	GRCh37	18	50450079	50450079	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	30	112	2	ENST00000442544.2:c.700C>T	p.Pro234Ser	p.P234S	ENST00000442544	NM_005215.3	234	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11952.1	700	RADIA|SOMATICSNIPER|VARSCANS	.	TAGATCCAGGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000389140	.	4/29	.	.	.	.	.	.	.	.	COSM988923	4/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.002)	.	tolerated(0.39)	1	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Pro234Ser,ENST00000442544,;DCC,missense_variant,p.Pro82Ser,ENST00000412726,;DCC,upstream_gene_variant,,ENST00000584710,;DCC,missense_variant,p.Pro168Ser,ENST00000304775,;DCC,upstream_gene_variant,,ENST00000579883,;	1316	114	141	SUCCESS
SALL3	27164	.	GRCh37	18	76753827	76753827	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	42	0	ENST00000537592.2:c.1836C>A	p.Pro612=	p.P612=	ENST00000537592	NM_171999.3	612	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12013.1	1836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGTGGG	NONE	.	.	hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233	.	.	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,synonymous_variant,p.%3D,ENST00000536229,;SALL3,synonymous_variant,p.%3D,ENST00000537592,;SALL3,synonymous_variant,p.%3D,ENST00000575389,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	1836	42	57	SUCCESS
ZNF709	163051	.	GRCh37	19	12574958	12574958	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	34	130	1	ENST00000397732.3:c.1778G>A	p.Cys593Tyr	p.C593Y	ENST00000397732	NM_152601.3	593	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	.	1778	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCACATTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000404127	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000428311	Transcript	.	.	ENSG00000196826	20629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	deleterious(0.02)	.	.	ZNF709	Uniprot_gn	.	.	UPI000006CF50	SNV	ZNF709,missense_variant,p.Cys593Tyr,ENST00000428311,;ZNF709,missense_variant,p.Cys593Tyr,ENST00000397732,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	1920	132	171	SUCCESS
CYP2B6	1555	.	GRCh37	19	41518307	41518307	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	63	0	ENST00000324071.4:c.1069C>T	p.Gln357Ter	p.Q357*	ENST00000324071	NM_000767.4	357	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12570.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCAGAGA	NONE	.	.	hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463	.	.	ENSP00000324648	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000324071	Transcript	1	.	ENSG00000197408	2615	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2B6_HUMAN	CYP2B6	HGNC	Q9UNX8_HUMAN,F2X1B0_HUMAN	.	UPI000012823F	SNV	CYP2B6,stop_gained,p.Gln121Ter,ENST00000593831,;CYP2B6,stop_gained,p.Gln157Ter,ENST00000330446,;CYP2B6,stop_gained,p.Gln357Ter,ENST00000324071,;CYP2B6,downstream_gene_variant,,ENST00000598834,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000597612,;	1076	63	81	SUCCESS
RUVBL2	10856	.	GRCh37	19	49513749	49513749	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	37	121	1	ENST00000595090.1:c.668A>G	p.Lys223Arg	p.K223R	ENST00000595090	NM_006666.1	223	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS42588.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAAGTTCG	NONE	.	.	hmmpanther:PTHR11093,Pfam_domain:PF06068,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000473172	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000595090	Transcript	.	.	ENSG00000183207	10475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.46)	.	RUVB2_HUMAN	RUVBL2	HGNC	M0QXI6_HUMAN,B3KQ59_HUMAN	.	UPI0000044738	SNV	RUVBL2,missense_variant,p.Lys223Arg,ENST00000595090,;RUVBL2,missense_variant,p.Lys178Arg,ENST00000413176,;RUVBL2,missense_variant,p.Lys178Arg,ENST00000601968,;RUVBL2,downstream_gene_variant,,ENST00000596837,;RUVBL2,synonymous_variant,p.%3D,ENST00000221413,;RUVBL2,3_prime_UTR_variant,,ENST00000596247,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594338,;RUVBL2,upstream_gene_variant,,ENST00000595002,;RUVBL2,downstream_gene_variant,,ENST00000594017,;RUVBL2,downstream_gene_variant,,ENST00000593570,;	1132	123	132	SUCCESS
CGB5	93659	.	GRCh37	19	49547453	49547453	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	94	0	ENST00000301408.6:c.-14G>T		p.*5*	ENST00000301408	NM_033043.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12752.1	.	RADIA|MUTECT|MUSE	.	GGCAGGGGACG	NONE	.	.	.	.	.	ENSP00000301408	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000301408	Transcript	.	.	ENSG00000189052	16452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB5	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB5,5_prime_UTR_variant,,ENST00000301408,;CGB1,intron_variant,,ENST00000391869,;CGB8,downstream_gene_variant,,ENST00000448456,;CGB8,downstream_gene_variant,,ENST00000355414,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;	313	94	122	SUCCESS
BIRC8	112401	.	GRCh37	19	53794575	53794575	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	90	0	ENST00000426466.1:c.-948C>T		p.*316*	ENST00000426466	NM_033341.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12863.1	.	MUTECT|MUSE|VARSCANS	.	ACCGCGCGCTC	NONE	.	.	.	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,5_prime_UTR_variant,,ENST00000426466,;	301	90	95	SUCCESS
ZNF211	10520	.	GRCh37	19	58152529	58152529	+	synonymous_variant	Silent	SNP	A	A	G	rs771160877	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	30	100	0	ENST00000347302.3:c.675A>G	p.Gly225=	p.G225=	ENST00000347302	NM_198855.2	225	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS58686.1	870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGAAAAAG	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF201	.	.	ENSP00000299871	.	5/5	.	.	.	.	.	.	.	.	rs771160877	5/5	PASS	ENST00000299871	Transcript	.	.	ENSG00000121417	13003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN211_HUMAN	ZNF211	HGNC	.	.	UPI0000D4CB1A	SNV	ZNF211,synonymous_variant,p.%3D,ENST00000254182,;ZNF211,synonymous_variant,p.%3D,ENST00000420680,;ZNF211,synonymous_variant,p.%3D,ENST00000240731,;ZNF211,synonymous_variant,p.%3D,ENST00000544273,;ZNF211,synonymous_variant,p.%3D,ENST00000541801,;ZNF211,synonymous_variant,p.%3D,ENST00000299871,;ZNF211,synonymous_variant,p.%3D,ENST00000347302,;ZNF211,synonymous_variant,p.%3D,ENST00000391703,;ZNF211,synonymous_variant,p.%3D,ENST00000407202,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;	1001	100	129	SUCCESS
PSMA5	5686	.	GRCh37	1	109944673	109944673	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	46	0	ENST00000271308.4:c.688A>T	p.Thr230Ser	p.T230S	ENST00000271308	NM_002790.3	230	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS799.1	688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTGAACA	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF14,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	.	ENSP00000271308	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000271308	Transcript	.	.	ENSG00000143106	9534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.94)	.	PSA5_HUMAN	PSMA5	HGNC	.	.	UPI0000026E6B	SNV	PSMA5,missense_variant,p.Thr230Ser,ENST00000271308,;PSMA5,missense_variant,p.Thr172Ser,ENST00000538610,;SORT1,upstream_gene_variant,,ENST00000256637,;PSMA5,non_coding_transcript_exon_variant,,ENST00000490870,;SORT1,upstream_gene_variant,,ENST00000471996,;	709	46	47	SUCCESS
FBXO44	93611	.	GRCh37	1	11721248	11721248	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	51	0	ENST00000251547.5:c.686G>A	p.Gly229Asp	p.G229D	ENST00000251547	NM_033182.5	229	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS132.1	686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGGCGTGG	NONE	.	.	PROSITE_profiles:PS51114,hmmpanther:PTHR12125:SF11,hmmpanther:PTHR12125,Pfam_domain:PF04300,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	.	ENSP00000365961	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000376770	Transcript	.	.	ENSG00000132879	24847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FBX44_HUMAN	FBXO44	HGNC	B7Z1X4_HUMAN	.	UPI000013CD04	SNV	FBXO44,missense_variant,p.Gly229Asp,ENST00000251547,;FBXO44,missense_variant,p.Gly229Asp,ENST00000376770,;FBXO44,synonymous_variant,p.%3D,ENST00000475435,;FBXO44,synonymous_variant,p.%3D,ENST00000376762,;FBXO44,synonymous_variant,p.%3D,ENST00000376768,;FBXO44,synonymous_variant,p.%3D,ENST00000376760,;FBXO44,synonymous_variant,p.%3D,ENST00000471895,;FBXO44,synonymous_variant,p.%3D,ENST00000251546,;FBXO6,upstream_gene_variant,,ENST00000376753,;FBXO44,downstream_gene_variant,,ENST00000425796,;FBXO6,upstream_gene_variant,,ENST00000474239,;	1184	51	55	SUCCESS
TCHH	7062	.	GRCh37	1	152082304	152082304	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	56	0	ENST00000368804.1:c.3389A>C	p.Lys1130Thr	p.K1130T	ENST00000368804	NM_007113.3	1130	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS41396.1	3389	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TTCTCTTCTCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	COSM1720660	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	.	1	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Lys1130Thr,ENST00000368804,;	3389	56	38	SUCCESS
FCRL2	79368	.	GRCh37	1	157737287	157737287	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144215277	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	279	30	184	0	ENST00000361516.3:c.896G>A	p.Arg299His	p.R299H	ENST00000361516	NM_030764.3	299	cGc/cAc	0	T:0.0011	.	.	.	.	T	R/H	protein_coding	YES	CCDS1168.1	896	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCGAGAC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48726,Pfam_domain:PF13927,hmmpanther:PTHR11481:SF41,hmmpanther:PTHR11481	.	T:0.0001	ENSP00000355157	.	6/12	.	.	.	.	.	.	.	.	rs144215277	6/12	PASS	ENST00000361516	Transcript	.	.	ENSG00000132704	14875	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(0.33)	.	FCRL2_HUMAN	FCRL2	HGNC	.	.	UPI000006E1F3	SNV	FCRL2,missense_variant,p.Arg299His,ENST00000361516,;FCRL2,missense_variant,p.Arg46His,ENST00000469986,;FCRL2,missense_variant,p.Arg299His,ENST00000392274,;FCRL2,intron_variant,,ENST00000368181,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,downstream_gene_variant,,ENST00000462774,;	945	184	310	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182920459	182920459	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1401456935	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	332	44	208	0	ENST00000367547.3:c.549G>T	p.Leu183Phe	p.L183F	ENST00000367547	NM_030933.2	183	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS30955.1	549	RADIA|MUTECT|MUSE|VARSCANS	.	TCAACCAATAT	NONE	.	.	hmmpanther:PTHR14695:SF7,hmmpanther:PTHR14695	.	.	ENSP00000356518	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000367547	Transcript	.	.	ENSG00000157060	16788	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.609)	.	deleterious(0.03)	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	SNV	SHCBP1L,missense_variant,p.Leu64Phe,ENST00000423786,;SHCBP1L,missense_variant,p.Leu183Phe,ENST00000367547,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000467208,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	786	208	376	SUCCESS
HEYL	26508	.	GRCh37	1	40092692	40092692	+	synonymous_variant	Silent	SNP	G	G	A	rs372712511	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	10	145	0	ENST00000372852.3:c.474C>T	p.Ala158=	p.A158=	ENST00000372852	NM_014571.3	158	gcC/gcT	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS439.1	474	MUTECT|MUSE	.	ATCTCGGCTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10985:SF10,hmmpanther:PTHR10985,Pfam_domain:PF07527,SMART_domains:SM00511,Superfamily_domains:0053813	.	A:0.0001	ENSP00000361943	.	5/5	.	.	.	.	.	.	.	.	rs372712511,COSM1342558	5/5	PASS	ENST00000372852	Transcript	.	.	ENSG00000163909	4882	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	HEYL_HUMAN	HEYL	HGNC	F5H3V9_HUMAN	.	UPI000013E317	SNV	HEYL,synonymous_variant,p.%3D,ENST00000372852,;HEYL,synonymous_variant,p.%3D,ENST00000535435,;	794	145	158	SUCCESS
LRRC7	57554	.	GRCh37	1	70502269	70502269	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	33	110	0	ENST00000035383.5:c.2136A>T	p.Thr712=	p.T712=	ENST00000035383	NM_020794.2	712	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS645.1	2136	RADIA|MUTECT|MUSE|VARSCANS	.	ACAACAGCTAA	NONE	.	.	.	.	.	ENSP00000035383	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,synonymous_variant,p.%3D,ENST00000035383,;LRRC7,synonymous_variant,p.%3D,ENST00000310961,;LRRC7,intron_variant,,ENST00000415775,;	2166	110	157	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74549690	74549690	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	14	84	0	ENST00000354431.4:c.868-9216A>G		p.*290*	ENST00000354431	NM_001105659.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41350.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATGCTAG	NONE	.	.	.	.	.	ENSP00000346414	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354431	Transcript	.	.	ENSG00000162620	28318	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,intron_variant,,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000354431,;LRRIQ3,downstream_gene_variant,,ENST00000370909,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000468759,;LRRIQ3,3_prime_UTR_variant,,ENST00000415760,;	.	84	105	SUCCESS
DLGAP4	22839	.	GRCh37	20	35128903	35128903	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763337013	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	28	125	0	ENST00000339266.5:c.2401C>T	p.Arg801Cys	p.R801C	ENST00000339266		801	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13274.1	2392	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCGCCGA	NONE	.	.	hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353,Pfam_domain:PF03359	.	.	ENSP00000363023	.	10/13	.	.	.	.	.	.	.	.	rs763337013	10/13	PASS	ENST00000373913	Transcript	.	.	ENSG00000080845	24476	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.888)	.	deleterious(0.01)	.	DLGP4_HUMAN	DLGAP4	HGNC	.	.	UPI000013D34B	SNV	DLGAP4,missense_variant,p.Arg798Cys,ENST00000401952,;DLGAP4,missense_variant,p.Arg801Cys,ENST00000339266,;DLGAP4,missense_variant,p.Arg798Cys,ENST00000373913,;DLGAP4,missense_variant,p.Arg801Cys,ENST00000373907,;DLGAP4,missense_variant,p.Arg262Cys,ENST00000340491,;DLGAP4,splice_region_variant,,ENST00000497862,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000475894,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000479951,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000495241,;DLGAP4,downstream_gene_variant,,ENST00000491207,;DLGAP4,downstream_gene_variant,,ENST00000482872,;DLGAP4,downstream_gene_variant,,ENST00000482037,;DLGAP4,downstream_gene_variant,,ENST00000479220,;DLGAP4,missense_variant,p.Arg107Cys,ENST00000489701,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000478910,;	2872	125	171	SUCCESS
MAP3K7CL	56911	.	GRCh37	21	30458223	30458223	+	synonymous_variant	Silent	SNP	G	G	A	rs1347414727	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	56	130	0	ENST00000286791.5:c.42G>A	p.Glu14=	p.E14=	ENST00000286791		14	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS13584.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGAGGCAGC	NONE	.	.	.	.	.	ENSP00000382828	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000399947	Transcript	.	.	ENSG00000156265	16457	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3KCL_HUMAN	MAP3K7CL	HGNC	C9JLK6_HUMAN,B0EVZ7_HUMAN	.	UPI000000D85A	SNV	MAP3K7CL,synonymous_variant,p.%3D,ENST00000341618,;MAP3K7CL,synonymous_variant,p.%3D,ENST00000399947,;MAP3K7CL,synonymous_variant,p.%3D,ENST00000286791,;MAP3K7CL,synonymous_variant,p.%3D,ENST00000419845,;MAP3K7CL,5_prime_UTR_variant,,ENST00000545939,;MAP3K7CL,5_prime_UTR_variant,,ENST00000399935,;MAP3K7CL,5_prime_UTR_variant,,ENST00000399934,;MAP3K7CL,non_coding_transcript_exon_variant,,ENST00000492930,;MAP3K7CL,non_coding_transcript_exon_variant,,ENST00000496779,;	319	131	203	SUCCESS
KRTAP24-1	643803	.	GRCh37	21	31654604	31654604	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749296180	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	17	88	0	ENST00000340345.4:c.647C>T	p.Thr216Met	p.T216M	ENST00000340345	NM_001085455.1	216	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS42915.1	647	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCGTAGGC	NONE	byFrequency	.	hmmpanther:PTHR23260:SF2,hmmpanther:PTHR23260	.	.	ENSP00000339238	.	1/1	.	.	.	.	.	.	.	.	rs749296180	1/1	PASS	ENST00000340345	Transcript	.	.	ENSG00000188694	33902	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.23)	.	KR241_HUMAN	KRTAP24-1	HGNC	.	.	UPI00005C50F3	SNV	KRTAP24-1,missense_variant,p.Thr216Met,ENST00000340345,;	673	88	131	SUCCESS
RIMBP3	85376	.	GRCh37	22	20457887	20457887	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762820811	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	840	84	714	0	ENST00000426804.1:c.3415G>T	p.Ala1139Ser	p.A1139S	ENST00000426804	NM_015672.1	1139	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46665.1	3415	MUTECT|MUSE|VARSCANS	.	ATCGGCGACCT	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21	.	.	ENSP00000391564	.	1/1	.	.	.	.	.	.	.	.	rs762820811	1/1	PASS	ENST00000426804	Transcript	.	.	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.041)	.	tolerated(0.19)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Ala1139Ser,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3900	715	924	SUCCESS
SMPD4P1	645280	.	GRCh37	22	20976006	20976006	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	21	0	ENST00000416717.1:n.427T>C		p.*143*	ENST00000416717				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	GGCCAAGGCCC	NONE	.	.	.	.	.	.	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000416717	Transcript	.	.	ENSG00000223553	39673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SMPD4P1	HGNC	.	.	.	SNV	SMPD4P1,non_coding_transcript_exon_variant,,ENST00000443839,;SMPD4P1,non_coding_transcript_exon_variant,,ENST00000416717,;	427	21	28	SUCCESS
SUSD2	56241	.	GRCh37	22	24581177	24581177	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	53	1	ENST00000358321.3:c.898G>A	p.Glu300Lys	p.E300K	ENST00000358321	NM_019601.3	300	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13824.1	898	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	AGCTGGAGGAT	NONE	.	.	SMART_domains:SM00723,Pfam_domain:PF03782,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS50856	.	.	ENSP00000351075	.	6/15	.	.	.	.	.	.	.	.	COSM1130485	6/15	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.98)	.	deleterious(0)	1	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,missense_variant,p.Glu300Lys,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	1159	54	84	SUCCESS
SLC5A7	60482	.	GRCh37	2	108609543	108609543	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484945457	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	12	169	1	ENST00000264047.2:c.408G>A	p.Met136Ile	p.M136I	ENST00000264047	NM_021815.2	136	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2074.1	408	MUTECT|MUSE	.	CTGATGGGAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474	.	.	ENSP00000264047	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000264047	Transcript	.	.	ENSG00000115665	14025	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated(0.26)	.	SC5A7_HUMAN	SLC5A7	HGNC	Q2T9H3_HUMAN,F5H382_HUMAN	.	UPI0000070792	SNV	SLC5A7,missense_variant,p.Met136Ile,ENST00000264047,;SLC5A7,missense_variant,p.Met31Ile,ENST00000540517,;SLC5A7,missense_variant,p.Met136Ile,ENST00000409059,;	684	170	211	SUCCESS
ZEB2	9839	.	GRCh37	2	145147276	145147276	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	345	99	333	0	ENST00000409487.3:c.3387T>A	p.Ser1129Arg	p.S1129R	ENST00000409487		1129	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS2186.1	3387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATACTCTC	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.03)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Ser1105Arg,ENST00000539609,;ZEB2,missense_variant,p.Ser1129Arg,ENST00000409487,;ZEB2,missense_variant,p.Ser1129Arg,ENST00000303660,;ZEB2,missense_variant,p.Ser1129Arg,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;	4572	333	444	SUCCESS
TTN	7273	.	GRCh37	2	179437226	179437226	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	74	0	ENST00000591111.1:c.68710C>A	p.Leu22904Ile	p.L22904I	ENST00000591111		22904	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS59435.1	73633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAGGAGAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu15605Ile,ENST00000359218,;TTN,missense_variant,p.Leu22904Ile,ENST00000591111,;TTN,missense_variant,p.Leu24545Ile,ENST00000589042,;TTN,missense_variant,p.Leu15672Ile,ENST00000342175,;TTN,missense_variant,p.Leu21977Ile,ENST00000342992,;TTN,missense_variant,p.Leu15480Ile,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	73858	74	102	SUCCESS
MYT1L	23040	.	GRCh37	2	1842975	1842975	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	30	125	0	ENST00000399161.2:c.3026C>A	p.Thr1009Lys	p.T1009K	ENST00000399161	NM_015025.2	1009	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS46222.1	3020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGTGGGG	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000396103	.	21/25	.	.	.	.	.	.	.	.	COSM1013716	21/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Thr1009Lys,ENST00000399161,;MYT1L,missense_variant,p.Thr63Lys,ENST00000399157,;MYT1L,missense_variant,p.Thr5Lys,ENST00000407844,;MYT1L,missense_variant,p.Thr1007Lys,ENST00000428368,;MYT1L,non_coding_transcript_exon_variant,,ENST00000471668,;	3690	125	149	SUCCESS
RBM44	375316	.	GRCh37	2	238725876	238725876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	71	204	1	ENST00000316997.4:c.317A>G	p.Tyr106Cys	p.Y106C	ENST00000316997	NM_001080504.2	106	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS46554.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATGCTT	NONE	.	.	.	.	.	ENSP00000321179	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000316997	Transcript	.	.	ENSG00000177483	24756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.37)	.	RBM44_HUMAN	RBM44	HGNC	.	.	UPI000179A941	SNV	RBM44,missense_variant,p.Tyr106Cys,ENST00000409864,;RBM44,missense_variant,p.Tyr106Cys,ENST00000316997,;RBM44,intron_variant,,ENST00000444524,;LRRFIP1,downstream_gene_variant,,ENST00000489603,;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,;	449	205	286	SUCCESS
ASXL2	55252	.	GRCh37	2	25966307	25966307	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	57	0	ENST00000435504.4:c.2899A>G	p.Ile967Val	p.I967V	ENST00000435504		967	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	.	2899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATTTGCT	NONE	.	.	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Ile939Val,ENST00000336112,;ASXL2,missense_variant,p.Ile967Val,ENST00000435504,;ASXL2,intron_variant,,ENST00000272341,;ASXL2,intron_variant,,ENST00000404843,;	3193	57	64	SUCCESS
GALNT14	79623	.	GRCh37	2	31154985	31154985	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368328840	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	61	0	ENST00000349752.5:c.1007G>A	p.Arg336Gln	p.R336Q	ENST00000349752	NM_024572.3	336	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS58706.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCGGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Pfam_domain:PF02709,Superfamily_domains:SSF53448	.	T:0.0001	ENSP00000314500	.	11/16	.	.	.	.	.	.	.	.	rs368328840,COSM4093795	11/16	PASS	ENST00000324589	Transcript	.	.	ENSG00000158089	22946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	GLT14_HUMAN	GALNT14	HGNC	.	.	UPI0000073A6F	SNV	GALNT14,missense_variant,p.Arg301Gln,ENST00000420311,;GALNT14,missense_variant,p.Arg341Gln,ENST00000324589,;GALNT14,missense_variant,p.Arg303Gln,ENST00000430167,;GALNT14,missense_variant,p.Arg303Gln,ENST00000356174,;GALNT14,missense_variant,p.Arg336Gln,ENST00000349752,;GALNT14,missense_variant,p.Arg316Gln,ENST00000406653,;GALNT14,non_coding_transcript_exon_variant,,ENST00000464038,;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,downstream_gene_variant,,ENST00000481023,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;	1083	61	83	SUCCESS
AFTPH	54812	.	GRCh37	2	64779969	64779969	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	37	105	0	ENST00000238855.7:c.1361A>G	p.Asp454Gly	p.D454G	ENST00000238855	NM_203437.3	454	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS46303.1	1361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGATTCAA	NONE	.	.	hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156	.	.	ENSP00000238855	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000238855	Transcript	.	.	ENSG00000119844	25951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	deleterious(0.01)	.	AFTIN_HUMAN	AFTPH	HGNC	.	.	UPI00003E1F8E	SNV	AFTPH,missense_variant,p.Asp454Gly,ENST00000422803,;AFTPH,missense_variant,p.Asp85Gly,ENST00000409183,;AFTPH,missense_variant,p.Asp454Gly,ENST00000409933,;AFTPH,missense_variant,p.Asp454Gly,ENST00000238855,;AFTPH,missense_variant,p.Asp454Gly,ENST00000238856,;AFTPH,upstream_gene_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;	1675	105	145	SUCCESS
CD207	50489	.	GRCh37	2	71060827	71060827	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567546839	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	16	82	0	ENST00000410009.3:c.515G>A	p.Arg172Gln	p.R172Q	ENST00000410009	NM_015717.3	172	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	.	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCGGATC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR22802:SF14,hmmpanther:PTHR22802,Gene3D:1.20.1170.10	T:0	.	ENSP00000386378	T:0	3/6	.	.	.	.	.	.	.	.	rs567546839,COSM3407954	3/6	PASS	ENST00000410009	Transcript	.	T:0.0026	ENSG00000116031	17935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	T:0.0133	tolerated(0.99)	0,1	CLC4K_HUMAN	CD207	HGNC	.	.	UPI0000410F0C	SNV	CD207,missense_variant,p.Arg172Gln,ENST00000410009,;	561	82	99	SUCCESS
CTNNA2	1496	.	GRCh37	2	79971559	79971559	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	62	207	0	ENST00000402739.4:c.149A>C	p.Lys50Thr	p.K50T	ENST00000402739	NM_001282597.1	50	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS42703.2	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAAGAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044	.	.	ENSP00000418191	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0.03)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Lys50Thr,ENST00000496558,;CTNNA2,missense_variant,p.Lys84Thr,ENST00000361291,;CTNNA2,missense_variant,p.Lys50Thr,ENST00000541047,;CTNNA2,missense_variant,p.Lys50Thr,ENST00000451966,;CTNNA2,missense_variant,p.Lys50Thr,ENST00000540488,;CTNNA2,missense_variant,p.Lys50Thr,ENST00000466387,;CTNNA2,missense_variant,p.Lys50Thr,ENST00000402739,;CTNNA2,missense_variant,p.Lys50Thr,ENST00000409971,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000508970,;	873	207	237	SUCCESS
FAM178B	51252	.	GRCh37	2	97637835	97637835	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	263	78	279	0	ENST00000417561.3:c.811C>A	p.Leu271Met	p.L271M	ENST00000417561		271	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS46366.2	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGCACCC	NONE	.	.	hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF11	.	.	ENSP00000429896	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000490605	Transcript	.	.	ENSG00000168754	28036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	tolerated_low_confidence(0.1)	.	F178B_HUMAN	FAM178B	HGNC	F8W6I6_HUMAN,B3KV66_HUMAN	.	UPI0001C53D28	SNV	FAM178B,missense_variant,p.Leu271Met,ENST00000417561,;FAM178B,missense_variant,p.Leu91Met,ENST00000327896,;FAM178B,missense_variant,p.Leu123Met,ENST00000490605,;	646	279	341	SUCCESS
GTF2E1	2960	.	GRCh37	3	120500204	120500204	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	33	176	0	ENST00000283875.5:c.1207T>C	p.Phe403Leu	p.F403L	ENST00000283875	NM_005513.2	403	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS3002.1	1207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGTTCTCC	NONE	.	.	hmmpanther:PTHR13097,hmmpanther:PTHR13097:SF6,Pfam_domain:PF11521	.	.	ENSP00000283875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000283875	Transcript	.	.	ENSG00000153767	4650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	.	tolerated(0.44)	.	T2EA_HUMAN	GTF2E1	HGNC	Q53F88_HUMAN,Q05DN6_HUMAN,E9PER7_HUMAN,C9J329_HUMAN,C9IYL4_HUMAN	.	UPI000013DD5F	SNV	GTF2E1,missense_variant,p.Phe403Leu,ENST00000283875,;GTF2E1,downstream_gene_variant,,ENST00000469772,;	1300	176	192	SUCCESS
SELT	0	.	GRCh37	3	150321156	150321156	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1281748032	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	9	148	0	ENST00000471696.1:c.7C>T	p.Leu3Phe	p.L3F	ENST00000471696	NM_016275.3	3	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46936.1	7	MUTECT|MUSE	.	TGAGGCTTCTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13544,hmmpanther:PTHR13544:SF0	.	.	ENSP00000418910	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000471696	Transcript	.	.	ENSG00000198843	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.35)	.	SELT_HUMAN	SELT	Uniprot_gn	Q6IAK0_HUMAN,F8WBD0_HUMAN	.	UPI000034ECC3	SNV	SELT,missense_variant,p.Leu3Phe,ENST00000471696,;SELT,5_prime_UTR_variant,,ENST00000485923,;SELT,5_prime_UTR_variant,,ENST00000477889,;SELT,intron_variant,,ENST00000480740,;SERP1,upstream_gene_variant,,ENST00000479209,;SERP1,upstream_gene_variant,,ENST00000484608,;SERP1,upstream_gene_variant,,ENST00000490945,;SERP1,upstream_gene_variant,,ENST00000491195,;SELT,missense_variant,p.Leu3Phe,ENST00000492132,;	82	148	200	SUCCESS
FETUB	26998	.	GRCh37	3	186360348	186360349	+	splice_donor_variant	Splice_Site	INS	-	-	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	218	39	122	0	ENST00000265029.3:c.424+2dup		p.X142_splice	ENST00000265029	NM_014375.2	142		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3279.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCAGGTAAGA	NONE	.	.	.	.	.	ENSP00000265029	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265029	Transcript	.	.	ENSG00000090512	3658	1	.	HIGH	3/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FETUB_HUMAN	FETUB	HGNC	C9JC68_HUMAN,B7Z8T3_HUMAN	.	UPI00000361F3	insertion	FETUB,splice_donor_variant,,ENST00000450521,;FETUB,splice_donor_variant,,ENST00000265029,;FETUB,splice_donor_variant,,ENST00000382136,;FETUB,intron_variant,,ENST00000431018,;FETUB,intron_variant,,ENST00000539949,;FETUB,intron_variant,,ENST00000382134,;RP11-134F2.2,intron_variant,,ENST00000428501,;RP11-134F2.2,intron_variant,,ENST00000455926,;FETUB,intron_variant,,ENST00000488561,;FETUB,splice_donor_variant,,ENST00000420570,;FETUB,intron_variant,,ENST00000435961,;	.	122	257	SUCCESS
VILL	50853	.	GRCh37	3	38043300	38043300	+	synonymous_variant	Silent	SNP	C	C	T	rs769280415	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	82	0	ENST00000283713.6:c.1428C>T	p.Ser476=	p.S476=	ENST00000283713		476	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2670.2	1428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGAGCC	NONE	byFrequency	.	hmmpanther:PTHR11977:SF30,hmmpanther:PTHR11977,Pfam_domain:PF00626,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753,Prints_domain:PR00597	.	.	ENSP00000283713	.	13/20	.	.	.	.	.	.	.	.	rs769280415	13/20	PASS	ENST00000283713	Transcript	.	.	ENSG00000136059	30906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VILL_HUMAN	VILL	HGNC	E9PFV5_HUMAN,C9JUR8_HUMAN	.	UPI000022BFB0	SNV	VILL,synonymous_variant,p.%3D,ENST00000383759,;VILL,synonymous_variant,p.%3D,ENST00000465644,;VILL,synonymous_variant,p.%3D,ENST00000283713,;VILL,downstream_gene_variant,,ENST00000492491,;VILL,3_prime_UTR_variant,,ENST00000412008,;VILL,non_coding_transcript_exon_variant,,ENST00000463080,;VILL,non_coding_transcript_exon_variant,,ENST00000486616,;VILL,non_coding_transcript_exon_variant,,ENST00000484717,;VILL,upstream_gene_variant,,ENST00000488209,;	1694	82	97	SUCCESS
ERC2	26059	.	GRCh37	3	56026116	56026116	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	102	0	ENST00000288221.6:c.2224G>C	p.Asp742His	p.D742H	ENST00000288221	NM_015576.1	742	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS46851.1	2224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTCATTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Pfam_domain:PF10174	.	.	ENSP00000288221	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.02)	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,missense_variant,p.Asp393His,ENST00000492584,;ERC2,missense_variant,p.Asp742His,ENST00000288221,;ERC2,missense_variant,p.Asp742His,ENST00000460849,;	2480	102	127	SUCCESS
SHQ1	55164	.	GRCh37	3	72799710	72799710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	85	0	ENST00000325599.8:c.1459A>G	p.Thr487Ala	p.T487A	ENST00000325599	NM_018130.2	487	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33788.1	1459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTCTCAG	NONE	.	.	hmmpanther:PTHR12967:SF0,hmmpanther:PTHR12967	.	.	ENSP00000315182	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000325599	Transcript	.	.	ENSG00000144736	25543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.75)	.	SHQ1_HUMAN	SHQ1	HGNC	C9J6N3_HUMAN	.	UPI00001416C5	SNV	SHQ1,missense_variant,p.Thr487Ala,ENST00000325599,;SHQ1,missense_variant,p.Thr459Ala,ENST00000463369,;SHQ1,non_coding_transcript_exon_variant,,ENST00000468371,;SHQ1,3_prime_UTR_variant,,ENST00000444040,;	1599	85	90	SUCCESS
PPP4R2	151987	.	GRCh37	3	73046215	73046215	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	65	205	0	ENST00000356692.5:c.27G>T	p.Ala9=	p.A9=	ENST00000356692		9	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2917.1	27	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGCTGAA	NONE	.	.	hmmpanther:PTHR16487,hmmpanther:PTHR16487:SF0,Pfam_domain:PF09184	.	.	ENSP00000349124	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000356692	Transcript	.	.	ENSG00000163605	18296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP4R2_HUMAN	PPP4R2	HGNC	F8WDK3_HUMAN	.	UPI000006F837	SNV	PPP4R2,synonymous_variant,p.%3D,ENST00000394284,;PPP4R2,synonymous_variant,p.%3D,ENST00000488810,;PPP4R2,synonymous_variant,p.%3D,ENST00000495566,;PPP4R2,synonymous_variant,p.%3D,ENST00000356692,;PPP4R2,5_prime_UTR_variant,,ENST00000295862,;GXYLT2,intron_variant,,ENST00000491839,;PPP4R2,upstream_gene_variant,,ENST00000476505,;PPP4R2,synonymous_variant,p.%3D,ENST00000482242,;PPP4R2,non_coding_transcript_exon_variant,,ENST00000470976,;	280	205	252	SUCCESS
OR5H14	403273	.	GRCh37	3	97868486	97868486	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	62	190	0	ENST00000437310.1:c.257T>C	p.Leu86Ser	p.L86S	ENST00000437310	NM_001005514.1	86	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS33798.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTAGCTA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	deleterious(0.04)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Leu86Ser,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	317	190	254	SUCCESS
PRRT3	285368	.	GRCh37	3	9988877	9988877	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	27	0	ENST00000295984.3:c.1980G>A	p.Trp660Ter	p.W660*	ENST00000295984		660	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS43049.1	1980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCCAGAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21712,hmmpanther:PTHR21712:SF27	.	.	ENSP00000392511	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000412055	Transcript	.	.	ENSG00000163704	26591	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRRT3_HUMAN	PRRT3	HGNC	.	.	UPI000019962A	SNV	PRRT3,stop_gained,p.Trp660Ter,ENST00000412055,;CRELD1,downstream_gene_variant,,ENST00000435417,;CRELD1,downstream_gene_variant,,ENST00000452070,;PRRT3,downstream_gene_variant,,ENST00000411976,;CRELD1,downstream_gene_variant,,ENST00000383811,;CRELD1,downstream_gene_variant,,ENST00000326434,;CRELD1,downstream_gene_variant,,ENST00000397170,;PRRT3-AS1,upstream_gene_variant,,ENST00000431558,;CRELD1,downstream_gene_variant,,ENST00000489674,;PRRT3,stop_gained,p.Trp660Ter,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000467713,;CRELD1,downstream_gene_variant,,ENST00000414117,;CRELD1,downstream_gene_variant,,ENST00000482691,;	2110	27	30	SUCCESS
BANK1	55024	.	GRCh37	4	102839251	102839251	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs748746845	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	93	298	0	ENST00000322953.4:c.1111G>C	p.Ala371Pro	p.A371P	ENST00000322953	NM_017935.4	371	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS34038.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGCATCT	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF10	.	.	ENSP00000320509	.	7/17	.	.	.	.	.	.	.	.	rs748746845	7/17	PASS	ENST00000322953	Transcript	1	.	ENSG00000153064	18233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BANK1_HUMAN	BANK1	HGNC	.	.	UPI0000D6159D	SNV	BANK1,missense_variant,p.Ala238Pro,ENST00000508653,;BANK1,missense_variant,p.Ala238Pro,ENST00000428908,;BANK1,missense_variant,p.Ala356Pro,ENST00000504592,;BANK1,missense_variant,p.Ala341Pro,ENST00000444316,;BANK1,missense_variant,p.Ala371Pro,ENST00000322953,;	1385	298	295	SUCCESS
TRPC3	7222	.	GRCh37	4	122828649	122828649	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	75	333	0	ENST00000379645.3:c.1866C>G	p.Ser622Arg	p.S622R	ENST00000379645	NM_001130698.1	622	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS47130.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGCTGAG	NONE	.	.	hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870	.	.	ENSP00000368966	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000379645	Transcript	.	.	ENSG00000138741	12335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRPC3_HUMAN	TRPC3	HGNC	Q4W5P7_HUMAN,D6R902_HUMAN	.	UPI00004C6F61	SNV	TRPC3,missense_variant,p.Ser549Arg,ENST00000264811,;TRPC3,missense_variant,p.Ser494Arg,ENST00000513531,;TRPC3,missense_variant,p.Ser622Arg,ENST00000379645,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	1940	333	280	SUCCESS
CLGN	1047	.	GRCh37	4	141323176	141323176	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	285	132	493	0	ENST00000325617.5:c.464A>G	p.Tyr155Cys	p.Y155C	ENST00000325617	NM_004362.2	155	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3751.1	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGTATGCA	NONE	.	.	Prints_domain:PR00626,Superfamily_domains:SSF49899,Gene3D:2.60.120.200,Pfam_domain:PF00262,PROSITE_patterns:PS00803,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7	.	.	ENSP00000326699	.	6/15	.	.	.	.	.	.	.	.	COSM4122435	6/15	PASS	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	SNV	CLGN,missense_variant,p.Tyr155Cys,ENST00000414773,;CLGN,missense_variant,p.Tyr155Cys,ENST00000325617,;CLGN,missense_variant,p.Tyr155Cys,ENST00000537281,;CLGN,missense_variant,p.Tyr155Cys,ENST00000509477,;	905	493	417	SUCCESS
CLGN	1047	.	GRCh37	4	141331017	141331017	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	283	107	415	1	ENST00000325617.5:c.251T>C	p.Met84Thr	p.M84T	ENST00000325617	NM_004362.2	84	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS3751.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCATGTCA	NONE	.	.	Superfamily_domains:SSF49899,Gene3D:2.60.120.200,Pfam_domain:PF00262,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7	.	.	ENSP00000326699	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	SNV	CLGN,missense_variant,p.Met84Thr,ENST00000414773,;CLGN,missense_variant,p.Met84Thr,ENST00000325617,;CLGN,missense_variant,p.Met84Thr,ENST00000537281,;CLGN,missense_variant,p.Met84Thr,ENST00000509477,;	692	416	390	SUCCESS
C4orf47	441054	.	GRCh37	4	186357237	186357237	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	358	144	549	0	ENST00000378850.4:c.358C>G	p.Pro120Ala	p.P120A	ENST00000378850	NM_001114357.1	120	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS47169.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCCAGTC	NONE	.	.	hmmpanther:PTHR31144,hmmpanther:PTHR31144:SF1,Pfam_domain:PF15239	.	.	ENSP00000368127	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000378850	Transcript	.	.	ENSG00000205129	34346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.233)	.	tolerated(0.05)	.	CD047_HUMAN	C4orf47	HGNC	D6RCA9_HUMAN,D6R9T4_HUMAN	.	UPI0000422C9D	SNV	C4orf47,missense_variant,p.Pro120Ala,ENST00000511581,;C4orf47,missense_variant,p.Pro120Ala,ENST00000511138,;C4orf47,missense_variant,p.Pro120Ala,ENST00000378850,;C4orf47,3_prime_UTR_variant,,ENST00000508698,;C4orf47,3_prime_UTR_variant,,ENST00000512770,;C4orf47,3_prime_UTR_variant,,ENST00000501066,;	380	550	502	SUCCESS
CORIN	10699	.	GRCh37	4	47625593	47625593	+	synonymous_variant	Silent	SNP	G	G	A	rs200808483	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	45	0	ENST00000273857.4:c.2535C>T	p.Phe845=	p.F845=	ENST00000273857	NM_006587.3	845	ttC/ttT	0	.	A:0	.	A:0	.	A	F	protein_coding	YES	CCDS3477.1	2535	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGAAGCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24270,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF50494	A:0.001	.	ENSP00000273857	A:0	19/22	.	.	.	.	.	.	.	.	rs200808483	19/22	PASS	ENST00000273857	Transcript	1	A:0.0002	ENSG00000145244	19012	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CORIN_HUMAN	CORIN	HGNC	Q8IZR7_HUMAN,E7EQE7_HUMAN	.	UPI0000168657	SNV	CORIN,synonymous_variant,p.%3D,ENST00000508498,;CORIN,synonymous_variant,p.%3D,ENST00000273857,;CORIN,synonymous_variant,p.%3D,ENST00000502252,;CORIN,synonymous_variant,p.%3D,ENST00000505909,;CORIN,downstream_gene_variant,,ENST00000515827,;	2535	45	83	SUCCESS
ALB	213	.	GRCh37	4	74285302	74285311	+	frameshift_variant	Frame_Shift_Del	DEL	TTTTGTAGAG	TTTTGTAGAG	-	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	TTTTGTAGAG	TTTTGTAGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	101	0	ENST00000295897.4:c.1731_1740del	p.Phe578SerfsTer27	p.F578Sfs*27	ENST00000295897	NM_000477.5	577	gcTTTTGTAGAG/gc	0	.	.	.	.	.	-	AFVE/X	protein_coding	YES	CCDS3555.1	1731-1740	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCAGCTTTTGTAGAGAAGTG	BUFFER|p.F575F|c.1725C>T|3	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PROSITE_patterns:PS00212,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Phe578SerfsTer18,ENST00000509063,;ALB,frameshift_variant,p.Phe423SerfsTer27,ENST00000511370,;ALB,frameshift_variant,p.Phe386SerfsTer27,ENST00000415165,;ALB,frameshift_variant,p.Phe578SerfsTer27,ENST00000295897,;ALB,frameshift_variant,p.Phe428SerfsTer27,ENST00000503124,;ALB,frameshift_variant,p.Phe463SerfsTer27,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,intron_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1820-1829	101	92	SUCCESS
CNOT6L	246175	.	GRCh37	4	78694248	78694248	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	350	151	513	0	ENST00000504123.1:c.387T>C	p.Thr129=	p.T129=	ENST00000504123	NM_001286790.1	129	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS47082.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGAGTTTG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF35,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000264903	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000264903	Transcript	.	.	ENSG00000138767	18042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNO6L_HUMAN	CNOT6L	HGNC	D6RGK9_HUMAN	.	UPI0000E445DF	SNV	CNOT6L,synonymous_variant,p.%3D,ENST00000504123,;CNOT6L,synonymous_variant,p.%3D,ENST00000264903,;CNOT6L,synonymous_variant,p.%3D,ENST00000515441,;CNOT6L,synonymous_variant,p.%3D,ENST00000515506,;CNOT6L,synonymous_variant,p.%3D,ENST00000512485,;CNOT6L,non_coding_transcript_exon_variant,,ENST00000506166,;CNOT6L,3_prime_UTR_variant,,ENST00000504804,;	469	513	501	SUCCESS
NKX6-1	4825	.	GRCh37	4	85414495	85414495	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	32	0	ENST00000295886.4:c.1051G>A	p.Gly351Ser	p.G351S	ENST00000295886	NM_006168.2	351	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3607.1	1051	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340:SF31,hmmpanther:PTHR24340	.	.	ENSP00000295886	.	3/3	.	.	.	.	.	.	.	.	COSM1217405	3/3	PASS	ENST00000295886	Transcript	.	.	ENSG00000163623	7839	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated_low_confidence(0.2)	1	NKX61_HUMAN	NKX6-1	HGNC	F8VWZ9_HUMAN	.	UPI000013E2C6	SNV	NKX6-1,missense_variant,p.Gly351Ser,ENST00000295886,;NKX6-1,missense_variant,p.Gly77Ser,ENST00000515820,;	1273	32	36	SUCCESS
CPZ	8532	.	GRCh37	4	8605908	8605908	+	synonymous_variant	Silent	SNP	C	C	T	rs753008564	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	82	0	ENST00000360986.4:c.702C>T	p.His234=	p.H234=	ENST00000360986	NM_001014447.2	234	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS33953.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACGAGCT	NONE	.	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	.	.	ENSP00000354255	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000360986	Transcript	.	.	ENSG00000109625	2333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPZ_HUMAN	CPZ	HGNC	.	.	UPI000020BCC5	SNV	CPZ,synonymous_variant,p.%3D,ENST00000360986,;CPZ,synonymous_variant,p.%3D,ENST00000315782,;CPZ,synonymous_variant,p.%3D,ENST00000382480,;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000504070,;CPZ,downstream_gene_variant,,ENST00000506287,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;CPZ,downstream_gene_variant,,ENST00000514875,;	876	82	123	SUCCESS
FBN2	2201	.	GRCh37	5	127670429	127670429	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	65	0	ENST00000262464.4:c.4081G>A	p.Gly1361Arg	p.G1361R	ENST00000262464	NM_001999.3	1361	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34222.1	4081	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCCCTTCT	NONE	.	.	Superfamily_domains:SSF57184,Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	37/71	.	.	.	.	.	.	.	.	.	37/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Gly1361Arg,ENST00000262464,;FBN2,missense_variant,p.Gly1361Arg,ENST00000508053,;FBN2,missense_variant,p.Gly211Arg,ENST00000507835,;FBN2,missense_variant,p.Gly1328Arg,ENST00000508989,;	5056	65	84	SUCCESS
AFAP1L1	134265	.	GRCh37	5	148695457	148695457	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371511486	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	24	101	0	ENST00000296721.4:c.1094G>A	p.Arg365His	p.R365H	ENST00000296721	NM_152406.2	365	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS34274.1	1094	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGCCGGG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50729,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1	.	A:0.0001	ENSP00000296721	.	10/19	.	.	.	.	.	.	.	.	rs371511486,COSM1435079	10/19	PASS	ENST00000296721	Transcript	.	.	ENSG00000157510	26714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.002)	.	tolerated(0.48)	0,1	AF1L1_HUMAN	AFAP1L1	HGNC	.	.	UPI00001C1E2F	SNV	AFAP1L1,missense_variant,p.Arg365His,ENST00000296721,;AFAP1L1,missense_variant,p.Arg365His,ENST00000515000,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000513665,;AFAP1L1,downstream_gene_variant,,ENST00000455574,;	1192	101	140	SUCCESS
HMMR	3161	.	GRCh37	5	162901124	162901124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	717	150	532	0	ENST00000358715.3:c.963A>T	p.Leu321Phe	p.L321F	ENST00000358715		321	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47334.1	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTAAAACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18956	.	.	ENSP00000377492	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000393915	Transcript	.	.	ENSG00000072571	5012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.03)	.	HMMR_HUMAN	HMMR	HGNC	E5RIH2_HUMAN,E5RI30_HUMAN,E3W978_HUMAN,B9UCQ3_HUMAN	.	UPI00001AE676	SNV	HMMR,missense_variant,p.Leu321Phe,ENST00000358715,;HMMR,missense_variant,p.Leu235Phe,ENST00000432118,;HMMR,missense_variant,p.Leu306Phe,ENST00000353866,;HMMR,missense_variant,p.Leu322Phe,ENST00000393915,;HMMR,downstream_gene_variant,,ENST00000522094,;HMMR,downstream_gene_variant,,ENST00000520345,;HMMR,downstream_gene_variant,,ENST00000517936,;	1109	532	867	SUCCESS
SLIT3	6586	.	GRCh37	5	168176483	168176483	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	25	86	0	ENST00000519560.1:c.2131T>A	p.Cys711Ser	p.C711S	ENST00000519560	NM_003062.3	711	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS4369.1	2131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAGGTGA	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF01463,SMART_domains:SM00082	.	.	ENSP00000430333	.	19/36	.	.	.	.	.	.	.	.	.	19/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.01)	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,missense_variant,p.Cys711Ser,ENST00000332966,;SLIT3,missense_variant,p.Cys711Ser,ENST00000519560,;SLIT3,missense_variant,p.Cys711Ser,ENST00000404867,;SLIT3,downstream_gene_variant,,ENST00000519486,;	2551	86	115	SUCCESS
SPEF2	79925	.	GRCh37	5	35654695	35654695	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	52	233	0	ENST00000356031.3:c.845A>G	p.Asn282Ser	p.N282S	ENST00000356031	NM_024867.3	282	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43309.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAAATACTT	BUFFER|p.D279N|c.835G>A|3,BUFFER|p.D279N|c.835G>A|3	.	.	hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0	.	.	ENSP00000348314	.	7/37	.	.	.	.	.	.	.	.	.	7/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.45)	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,missense_variant,p.Asn282Ser,ENST00000440995,;SPEF2,missense_variant,p.Asn225Ser,ENST00000510777,;SPEF2,missense_variant,p.Asn282Ser,ENST00000509059,;SPEF2,missense_variant,p.Asn282Ser,ENST00000282469,;SPEF2,missense_variant,p.Asn282Ser,ENST00000356031,;SPEF2,non_coding_transcript_exon_variant,,ENST00000502454,;SPEF2,upstream_gene_variant,,ENST00000503074,;	999	234	259	SUCCESS
EMB	133418	.	GRCh37	5	49701580	49701580	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	651	39	604	0	ENST00000303221.5:c.579C>T	p.Tyr193=	p.Y193=	ENST00000303221	NM_198449.2	193	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS3953.1	579	MUTECT|MUSE	.	CTACTGTACCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4,PROSITE_profiles:PS50835	.	.	ENSP00000302289	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000303221	Transcript	.	.	ENSG00000170571	30465	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EMB_HUMAN	EMB	HGNC	B7Z902_HUMAN	.	UPI0000160A6D	SNV	EMB,synonymous_variant,p.%3D,ENST00000514111,;EMB,synonymous_variant,p.%3D,ENST00000303221,;EMB,synonymous_variant,p.%3D,ENST00000508934,;EMB,non_coding_transcript_exon_variant,,ENST00000506190,;EMB,non_coding_transcript_exon_variant,,ENST00000505896,;	795	604	690	SUCCESS
SKIV2L2	0	.	GRCh37	5	54701259	54701259	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754413662	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	40	109	0	ENST00000230640.5:c.2488A>G	p.Ile830Val	p.I830V	ENST00000230640	NM_015360.4	830	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3967.1	2488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAATAGAT	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Pfam_domain:PF13234,PIRSF_domain:PIRSF005198	.	.	ENSP00000230640	.	22/27	.	.	.	.	.	.	.	.	rs754413662	22/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,missense_variant,p.Ile729Val,ENST00000545714,;SKIV2L2,missense_variant,p.Ile830Val,ENST00000230640,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000518955,;	2742	109	148	SUCCESS
SLC38A9	153129	.	GRCh37	5	54965110	54965110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769081599	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	87	0	ENST00000318672.3:c.472G>A	p.Gly158Ser	p.G158S	ENST00000318672		158	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3968.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCCATCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF118,Pfam_domain:PF01490	.	.	ENSP00000380074	.	7/16	.	.	.	.	.	.	.	.	rs769081599	7/16	PASS	ENST00000396865	Transcript	.	.	ENSG00000177058	26907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0.03)	.	S38A9_HUMAN	SLC38A9	HGNC	E7ESU6_HUMAN,D6RIW7_HUMAN,D6RHW0_HUMAN,D6RG31_HUMAN,D6RER8_HUMAN,D6RDH2_HUMAN,D6R9X0_HUMAN,B3KVK8_HUMAN	.	UPI00001403C2	SNV	SLC38A9,missense_variant,p.Gly158Ser,ENST00000539768,;SLC38A9,missense_variant,p.Gly95Ser,ENST00000512208,;SLC38A9,missense_variant,p.Gly158Ser,ENST00000396865,;SLC38A9,missense_variant,p.Gly131Ser,ENST00000512595,;SLC38A9,missense_variant,p.Gly158Ser,ENST00000318672,;SLC38A9,missense_variant,p.Gly158Ser,ENST00000511233,;SLC38A9,missense_variant,p.Gly34Ser,ENST00000416547,;SLC38A9,missense_variant,p.Gly95Ser,ENST00000503817,;SLC38A9,missense_variant,p.Gly95Ser,ENST00000515629,;SLC38A9,downstream_gene_variant,,ENST00000502247,;SLC38A9,downstream_gene_variant,,ENST00000503891,;SLC38A9,downstream_gene_variant,,ENST00000513993,;SLC38A9,missense_variant,p.Gly95Ser,ENST00000505708,;SLC38A9,3_prime_UTR_variant,,ENST00000508124,;SLC38A9,non_coding_transcript_exon_variant,,ENST00000514806,;SLC38A9,non_coding_transcript_exon_variant,,ENST00000507447,;SLC38A9,upstream_gene_variant,,ENST00000524154,;SLC38A9,upstream_gene_variant,,ENST00000515159,;	1064	87	91	SUCCESS
MIER3	166968	.	GRCh37	5	56255334	56255334	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs760080897	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	58	0	ENST00000440000.1:c.-91G>A		p.*31*	ENST00000440000				0	.	.	.	.	.	T	.	protein_coding	.	.	.	MUTECT|MUSE	.	TGCTGCGTTGA	NONE	.	.	.	.	.	ENSP00000407169	.	2/3	.	.	.	.	.	.	.	.	rs760080897	2/3	PASS	ENST00000440000	Transcript	.	.	ENSG00000155545	26678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MIER3	HGNC	C9JXP7_HUMAN	.	UPI0000E5AC62	SNV	MIER3,5_prime_UTR_variant,,ENST00000440000,;MIER3,non_coding_transcript_exon_variant,,ENST00000546593,;MIER3,intron_variant,,ENST00000497185,;	57	58	90	SUCCESS
MCCC2	64087	.	GRCh37	5	70952644	70952644	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs745984390	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	30	101	0	ENST00000340941.6:c.1649A>G	p.Asn550Ser	p.N550S	ENST00000340941	NM_022132.4	550	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34184.1	1649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAACGCAC	NONE	byFrequency	.	PROSITE_profiles:PS50989,hmmpanther:PTHR22855,hmmpanther:PTHR22855:SF13,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	.	.	ENSP00000343657	.	17/17	.	.	.	.	.	.	.	.	rs745984390	17/17	PASS	ENST00000340941	Transcript	1	.	ENSG00000131844	6937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	deleterious_low_confidence(0.01)	.	MCCB_HUMAN	MCCC2	HGNC	.	.	UPI000012ED69	SNV	MCCC2,missense_variant,p.Asn550Ser,ENST00000340941,;MCCC2,missense_variant,p.Asn512Ser,ENST00000323375,;MCCC2,downstream_gene_variant,,ENST00000509539,;MCCC2,3_prime_UTR_variant,,ENST00000512218,;	1778	101	162	SUCCESS
TNPO1	3842	.	GRCh37	5	72189057	72189058	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	114	28	84	0	ENST00000337273.5:c.1882_1883del	p.Leu628CysfsTer14	p.L628Cfs*14	ENST00000337273	NM_002270.3	627	aCT/a	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS43329.1	1880-1881	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGACTCTTGC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	deletion	TNPO1,frameshift_variant,p.Leu578CysfsTer14,ENST00000523768,;TNPO1,frameshift_variant,p.Leu620CysfsTer14,ENST00000506351,;TNPO1,frameshift_variant,p.Leu628CysfsTer14,ENST00000337273,;TNPO1,frameshift_variant,p.Leu578CysfsTer14,ENST00000454282,;TNPO1,upstream_gene_variant,,ENST00000605210,;	2306-2307	84	142	SUCCESS
AIM1	0	.	GRCh37	6	106967341	106967341	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs776196166	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	57	139	0	ENST00000369066.3:c.1034T>G	p.Val345Gly	p.V345G	ENST00000369066	NM_001624.2	345	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS34506.1	1034	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTTACCG	NONE	.	.	hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818	.	.	ENSP00000358062	.	2/20	.	.	.	.	.	.	.	.	rs776196166	2/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.09)	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,missense_variant,p.Val345Gly,ENST00000369066,;	1521	139	240	SUCCESS
SYCP2L	221711	.	GRCh37	6	10911072	10911072	+	synonymous_variant	Silent	SNP	G	G	T	rs761928920	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	57	0	ENST00000283141.6:c.888G>T	p.Pro296=	p.P296=	ENST00000283141	NM_001040274.2	296	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43423.1	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCGTGTAT	NONE	byFrequency	.	hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607	.	.	ENSP00000283141	.	12/30	.	.	.	.	.	.	.	.	rs761928920	12/30	PASS	ENST00000283141	Transcript	.	.	ENSG00000153157	21537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYC2L_HUMAN	SYCP2L	HGNC	.	.	UPI000022CA18	SNV	SYCP2L,synonymous_variant,p.%3D,ENST00000543878,;SYCP2L,synonymous_variant,p.%3D,ENST00000283141,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,3_prime_UTR_variant,,ENST00000487561,;SYCP2L,intron_variant,,ENST00000341041,;	1184	57	74	SUCCESS
SMPD2	6610	.	GRCh37	6	109764501	109764501	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768794675	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	21	95	0	ENST00000258052.3:c.761G>A	p.Ser254Asn	p.S254N	ENST00000258052	NM_003080.2	254	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS5075.1	761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGAGTTTTG	NONE	.	.	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12393	.	.	ENSP00000258052	.	9/10	.	.	.	.	.	.	.	.	rs768794675	9/10	PASS	ENST00000258052	Transcript	.	.	ENSG00000135587	11121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.31)	.	NSMA_HUMAN	SMPD2	HGNC	.	.	UPI000013CFAC	SNV	SMPD2,missense_variant,p.Ser254Asn,ENST00000258052,;SMPD2,missense_variant,p.Ser151Asn,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000440797,;PPIL6,upstream_gene_variant,,ENST00000521072,;PPIL6,upstream_gene_variant,,ENST00000424445,;PPIL6,upstream_gene_variant,,ENST00000520723,;MICAL1,downstream_gene_variant,,ENST00000358807,;PPIL6,upstream_gene_variant,,ENST00000417394,;PPIL6,upstream_gene_variant,,ENST00000518648,;MICAL1,downstream_gene_variant,,ENST00000433205,;MICAL1,downstream_gene_variant,,ENST00000358577,;MICAL1,downstream_gene_variant,,ENST00000368952,;PPIL6,upstream_gene_variant,,ENST00000447468,;MICAL1,downstream_gene_variant,,ENST00000456101,;MICAL1,downstream_gene_variant,,ENST00000465904,;SMPD2,downstream_gene_variant,,ENST00000439615,;	1120	95	96	SUCCESS
RGS17	26575	.	GRCh37	6	153332802	153332802	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	178	14	218	0	ENST00000206262.1:c.540T>G	p.Thr180=	p.T180=	ENST00000206262	NM_012419.4	180	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS5244.1	540	MUTECT|MUSE	.	ATTAAAGTATA	NONE	.	.	Prints_domain:PR01301,Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,Gene3D:1.10.167.10,hmmpanther:PTHR10845:SF133,PROSITE_profiles:PS50132,hmmpanther:PTHR10845	.	.	ENSP00000356194	.	4/4	.	.	.	.	.	.	.	.	COSM3994696	4/4	PASS	ENST00000367225	Transcript	.	.	ENSG00000091844	14088	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	RGS17_HUMAN	RGS17	HGNC	.	.	UPI000000D76A	SNV	RGS17,synonymous_variant,p.%3D,ENST00000367225,;RGS17,synonymous_variant,p.%3D,ENST00000206262,;	565	218	192	SUCCESS
RUNX2	860	.	GRCh37	6	45514837	45514837	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1216479084	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	45	102	0	ENST00000371438.1:c.1361A>G	p.Tyr454Cys	p.Y454C	ENST00000371438	NM_001024630.3	454	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS43467.2	1361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTATCAGT	NONE	.	.	hmmpanther:PTHR11950:SF7,hmmpanther:PTHR11950,Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967	.	.	ENSP00000360493	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371438	Transcript	.	.	ENSG00000124813	10472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RUNX2_HUMAN	RUNX2	HGNC	U3RG86_HUMAN	.	UPI000013532F	SNV	RUNX2,missense_variant,p.Tyr440Cys,ENST00000359524,;RUNX2,missense_variant,p.Tyr522Cys,ENST00000352853,;RUNX2,missense_variant,p.Tyr500Cys,ENST00000541979,;RUNX2,missense_variant,p.Tyr432Cys,ENST00000371436,;RUNX2,missense_variant,p.Tyr454Cys,ENST00000465038,;RUNX2,missense_variant,p.Tyr454Cys,ENST00000371438,;RUNX2,missense_variant,p.Tyr418Cys,ENST00000371432,;RUNX2,intron_variant,,ENST00000576263,;RUNX2,3_prime_UTR_variant,,ENST00000483377,;RUNX2,intron_variant,,ENST00000478660,;	1719	102	160	SUCCESS
MYO6	4646	.	GRCh37	6	76538320	76538320	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	60	191	0	ENST00000369977.3:c.251A>T	p.Asp84Val	p.D84V	ENST00000369977	NM_004999.3	84	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS34487.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGACAGAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000358994	.	4/35	.	.	.	.	.	.	.	.	.	4/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,missense_variant,p.Asp84Val,ENST00000369985,;MYO6,missense_variant,p.Asp84Val,ENST00000369977,;MYO6,missense_variant,p.Asp84Val,ENST00000369981,;MYO6,missense_variant,p.Asp84Val,ENST00000369975,;	390	191	249	SUCCESS
EPHB4	2050	.	GRCh37	7	100410715	100410715	+	splice_donor_variant	Splice_Site	DEL	A	A	-	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	44	0	ENST00000358173.3:c.1870+2del		p.X624_splice	ENST00000358173	NM_004444.4	624		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5706.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCTCACCTGC	NONE	.	.	.	.	.	ENSP00000350896	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358173	Transcript	.	.	ENSG00000196411	3395	.	.	HIGH	11/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPHB4_HUMAN	EPHB4	HGNC	Q541P7_HUMAN	.	UPI0000000DBB	deletion	EPHB4,splice_donor_variant,,ENST00000358173,;EPHB4,splice_donor_variant,,ENST00000360620,;EPHB4,downstream_gene_variant,,ENST00000489808,;EPHB4,downstream_gene_variant,,ENST00000477446,;EPHB4,splice_donor_variant,,ENST00000487222,;EPHB4,splice_donor_variant,,ENST00000467515,;EPHB4,splice_donor_variant,,ENST00000478459,;	.	44	79	SUCCESS
SDK1	221935	.	GRCh37	7	4245519	4245519	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1387415100	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	27	87	0	ENST00000404826.2:c.5107A>G	p.Met1703Val	p.M1703V	ENST00000404826	NM_152744.3	1703	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34590.1	5107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCATGGCC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	36/45	.	.	.	.	.	.	.	.	.	36/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.46)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Met1703Val,ENST00000404826,;SDK1,missense_variant,p.Met1683Val,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	5246	87	107	SUCCESS
HECW1	23072	.	GRCh37	7	43447201	43447201	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	19	221	0	ENST00000395891.2:c.672C>T	p.Asn224=	p.N224=	ENST00000395891	NM_015052.3	224	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS5469.2	672	MUTECT|MUSE	.	TTCAACCCAGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000379228	.	8/30	.	.	.	.	.	.	.	.	.	8/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,synonymous_variant,p.%3D,ENST00000453890,;HECW1,synonymous_variant,p.%3D,ENST00000395891,;HECW1,non_coding_transcript_exon_variant,,ENST00000471043,;HECW1,non_coding_transcript_exon_variant,,ENST00000481031,;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;	1277	221	253	SUCCESS
CACNA2D1	781	.	GRCh37	7	81603858	81603858	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	89	0	ENST00000356253.5:c.2002A>C	p.Asn668His	p.N668H	ENST00000356253		668	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS5598.1	1966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATTGCAGT	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	25/39	.	.	.	.	.	.	.	.	.	25/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Asn668His,ENST00000356253,;CACNA2D1,missense_variant,p.Asn167His,ENST00000443883,;CACNA2D1,missense_variant,p.Asn656His,ENST00000356860,;CACNA2D1,upstream_gene_variant,,ENST00000535308,;CACNA2D1,upstream_gene_variant,,ENST00000486539,;	2305	89	91	SUCCESS
KIAA1324L	0	.	GRCh37	7	86567441	86567441	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	63	0	ENST00000450689.2:c.1089+1G>C		p.X363_splice	ENST00000450689	NM_001142749.2	363		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47632.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTACCTTTC	NONE	.	.	.	.	.	ENSP00000413445	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	HIGH	8/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,splice_donor_variant,,ENST00000416314,;KIAA1324L,splice_donor_variant,,ENST00000297222,;KIAA1324L,splice_donor_variant,,ENST00000444627,;KIAA1324L,splice_donor_variant,,ENST00000423294,;KIAA1324L,splice_donor_variant,,ENST00000450689,;KIAA1324L,downstream_gene_variant,,ENST00000398276,;KIAA1324L,splice_donor_variant,,ENST00000394714,;	.	63	62	SUCCESS
KHDRBS3	10656	.	GRCh37	8	136561090	136561090	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	63	87	1	ENST00000355849.5:c.418G>T	p.Ala140Ser	p.A140S	ENST00000355849	NM_006558.1	140	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6374.1	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGCTTAT	NONE	.	.	hmmpanther:PTHR11208:SF29,hmmpanther:PTHR11208,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000348108	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000355849	Transcript	.	.	ENSG00000131773	18117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	KHDR3_HUMAN	KHDRBS3	HGNC	.	.	UPI0000073E6F	SNV	KHDRBS3,missense_variant,p.Ala113Ser,ENST00000517394,;KHDRBS3,missense_variant,p.Ala55Ser,ENST00000524282,;KHDRBS3,missense_variant,p.Ala112Ser,ENST00000524199,;KHDRBS3,missense_variant,p.Ala140Ser,ENST00000355849,;KHDRBS3,intron_variant,,ENST00000520981,;KHDRBS3,missense_variant,p.Ala65Ser,ENST00000517859,;KHDRBS3,non_coding_transcript_exon_variant,,ENST00000519600,;	828	88	153	SUCCESS
OPLAH	26873	.	GRCh37	8	145113729	145113729	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	46	81	0	ENST00000426825.1:c.534G>A	p.Gly178=	p.G178=	ENST00000426825	NM_017570.3	178	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	.	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCCCTC	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF05378	.	.	ENSP00000475943	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,synonymous_variant,p.%3D,ENST00000426825,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000567871,;OPLAH,upstream_gene_variant,,ENST00000527993,;OPLAH,upstream_gene_variant,,ENST00000531027,;	616	81	106	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88885667	88885667	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	8	80	1	ENST00000319675.3:c.533G>T	p.Cys178Phe	p.C178F	ENST00000319675	NM_152418.3	178	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS6245.1	533	MUTECT|MUSE	.	AACTGCAAAGC	NONE	.	.	hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Superfamily_domains:SSF50978	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.41)	.	tolerated(0.08)	.	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	SNV	DCAF4L2,missense_variant,p.Cys178Phe,ENST00000319675,;	630	81	131	SUCCESS
MEGF9	1955	.	GRCh37	9	123476253	123476253	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	25	109	0	ENST00000373930.3:c.384G>A	p.Pro128=	p.P128=	ENST00000373930	NM_001080497.2	128	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS48010.2	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGGAGG	NONE	.	.	.	.	.	ENSP00000363040	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373930	Transcript	.	.	ENSG00000106780	3234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF9_HUMAN	MEGF9	HGNC	.	.	UPI000045779F	SNV	MEGF9,synonymous_variant,p.%3D,ENST00000426959,;MEGF9,synonymous_variant,p.%3D,ENST00000373930,;	496	109	99	SUCCESS
C9orf142	0	.	GRCh37	9	139886992	139886992	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	36	0	ENST00000371620.3:c.97G>C	p.Asp33His	p.D33H	ENST00000371620	NM_183241.1	33	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS7020.1	97	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGACCGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15384	.	.	ENSP00000360682	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000371620	Transcript	.	.	ENSG00000148362	27849	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.792)	.	tolerated(0.06)	.	CI142_HUMAN	C9orf142	HGNC	.	.	UPI00001BD908	SNV	C9orf142,missense_variant,p.Asp33His,ENST00000371620,;CLIC3,downstream_gene_variant,,ENST00000494426,;C9orf142,non_coding_transcript_exon_variant,,ENST00000481187,;C9orf142,non_coding_transcript_exon_variant,,ENST00000483807,;C9orf142,non_coding_transcript_exon_variant,,ENST00000493968,;C9orf142,non_coding_transcript_exon_variant,,ENST00000468484,;C9orf142,non_coding_transcript_exon_variant,,ENST00000488678,;C9orf142,upstream_gene_variant,,ENST00000492564,;C9orf142,upstream_gene_variant,,ENST00000463765,;CLIC3,downstream_gene_variant,,ENST00000480181,;C9orf142,upstream_gene_variant,,ENST00000498095,;CLIC3,downstream_gene_variant,,ENST00000473911,;C9orf142,upstream_gene_variant,,ENST00000467845,;	123	36	38	SUCCESS
DOCK8	81704	.	GRCh37	9	328171	328171	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	70	0	ENST00000432829.2:c.840G>C	p.Lys280Asn	p.K280N	ENST00000432829	NM_203447.3	280	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS6440.2	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAGGTAAT	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74	.	.	ENSP00000408464	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Lys280Asn,ENST00000432829,;DOCK8,missense_variant,p.Lys348Asn,ENST00000453981,;DOCK8,missense_variant,p.Lys280Asn,ENST00000469391,;DOCK8,missense_variant,p.Lys280Asn,ENST00000483757,;DOCK8,splice_region_variant,,ENST00000382341,;DOCK8,splice_region_variant,,ENST00000495184,;DOCK8,splice_region_variant,,ENST00000524396,;DOCK8,splice_region_variant,,ENST00000454469,;	1156	70	57	SUCCESS
CAPN6	827	.	GRCh37	X	110495540	110495540	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	46	0	ENST00000324068.1:c.694A>G	p.Ile232Val	p.I232V	ENST00000324068	NM_014289.3	232	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14555.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGGAAC	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF281,Pfam_domain:PF00648,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000317214	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000324068	Transcript	.	.	ENSG00000077274	1483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0.02)	.	CAN6_HUMAN	CAPN6	HGNC	F5GWQ6_HUMAN	.	UPI0000126EA1	SNV	CAPN6,missense_variant,p.Ile232Val,ENST00000324068,;CAPN6,intron_variant,,ENST00000541758,;	862	46	47	SUCCESS
STS	412	.	GRCh37	X	7252038	7252038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	54	0	ENST00000217961.4:c.1268G>A	p.Gly423Glu	p.G423E	ENST00000217961	NM_000351.4	423	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS14127.1	1268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGACGTG	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF202,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000217961	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000217961	Transcript	.	.	ENSG00000101846	11425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STS_HUMAN	STS	HGNC	.	.	UPI0000136153	SNV	STS,missense_variant,p.Gly423Glu,ENST00000217961,;	1488	54	70	SUCCESS
HABP2	3026	.	GRCh37	10	115336952	115336952	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	230	7	199	0	ENST00000351270.3:c.375T>G	p.Cys125Trp	p.C125W	ENST00000351270	NM_004132.3	125	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS7577.1	375	MUTECT|MUSE	.	CAATGTCTCAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24272:SF5,hmmpanther:PTHR24272,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000277903	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000351270	Transcript	.	.	ENSG00000148702	4798	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	HABP2_HUMAN	HABP2	HGNC	.	.	UPI0000049411	SNV	HABP2,missense_variant,p.Cys125Trp,ENST00000351270,;HABP2,missense_variant,p.Cys125Trp,ENST00000541666,;HABP2,missense_variant,p.Val114Gly,ENST00000537906,;HABP2,missense_variant,p.Cys99Trp,ENST00000542051,;	471	199	237	SUCCESS
USP54	159195	.	GRCh37	10	75283430	75283448	+	frameshift_variant	Frame_Shift_Del	DEL	CGAAGTTCCTGTTCCTGCG	CGAAGTTCCTGTTCCTGCG	-	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	CGAAGTTCCTGTTCCTGCG	CGAAGTTCCTGTTCCTGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	97	0	ENST00000339859.4:c.2255_2273del	p.Ala752GlufsTer8	p.A752Efs*8	ENST00000339859		752	gCGCAGGAACAGGAACTTCGa/ga	0	.	.	.	.	.	-	AQEQELR/X	protein_coding	YES	CCDS7329.2	2255-2273	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTTCGAAGTTCCTGTTCCTGCGCCCTC	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5,Low_complexity_(Seg):seg	.	.	ENSP00000345216	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000339859	Transcript	.	.	ENSG00000166348	23513	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP54_HUMAN	USP54	HGNC	.	.	UPI0000DFF136	deletion	USP54,frameshift_variant,p.Ala602GlufsTer8,ENST00000428547,;USP54,frameshift_variant,p.Ala752GlufsTer8,ENST00000339859,;USP54,frameshift_variant,p.Ala752GlufsTer8,ENST00000408019,;USP54,5_prime_UTR_variant,,ENST00000422491,;USP54,5_prime_UTR_variant,,ENST00000394811,;RP11-137L10.6,downstream_gene_variant,,ENST00000600206,;RP11-137L10.6,downstream_gene_variant,,ENST00000597958,;RP11-137L10.6,downstream_gene_variant,,ENST00000595069,;RP11-137L10.6,downstream_gene_variant,,ENST00000593790,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,frameshift_variant,p.Ala313GlufsTer8,ENST00000418501,;USP54,frameshift_variant,p.Ala327GlufsTer8,ENST00000466048,;USP54,frameshift_variant,p.Ala550GlufsTer8,ENST00000424265,;USP54,non_coding_transcript_exon_variant,,ENST00000498143,;	2356-2374	97	84	SUCCESS
FAS	355	.	GRCh37	10	90768661	90768661	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	105	0	ENST00000355740.2:c.350T>C	p.Ile117Thr	p.I117T	ENST00000355740	NM_000043.4	117	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7393.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATAAACT	NONE	.	.	PROSITE_profiles:PS50050,hmmpanther:PTHR23097:SF93,hmmpanther:PTHR23097,Pfam_domain:PF00020,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586	.	.	ENSP00000347979	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000355740	Transcript	1	.	ENSG00000026103	11920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.4)	.	TNR6_HUMAN	FAS	HGNC	S5PSV7_HUMAN,Q8IUB7_HUMAN	.	UPI000003060C	SNV	FAS,missense_variant,p.Ile117Thr,ENST00000357339,;FAS,missense_variant,p.Ile117Thr,ENST00000352159,;FAS,missense_variant,p.Ile117Thr,ENST00000355740,;FAS,missense_variant,p.Ile117Thr,ENST00000355279,;FAS,non_coding_transcript_exon_variant,,ENST00000487314,;FAS,non_coding_transcript_exon_variant,,ENST00000460510,;FAS,non_coding_transcript_exon_variant,,ENST00000313771,;FAS,non_coding_transcript_exon_variant,,ENST00000477270,;FAS,intron_variant,,ENST00000466081,;FAS,intron_variant,,ENST00000494799,;FAS,non_coding_transcript_exon_variant,,ENST00000371857,;FAS,intron_variant,,ENST00000494410,;FAS,intron_variant,,ENST00000492756,;FAS,intron_variant,,ENST00000488877,;FAS,intron_variant,,ENST00000479522,;FAS,intron_variant,,ENST00000484444,;	570	105	130	SUCCESS
MYOF	26509	.	GRCh37	10	95116503	95116503	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs181998538	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	122	0	ENST00000359263.4:c.3223C>T	p.Arg1075Cys	p.R1075C	ENST00000359263	NM_013451.3	1075	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS41551.1	3223	MUTECT|MUSE	.	CCAGCGTCTGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,SMART_domains:SM00694	.	A:0.0001	ENSP00000352208	.	30/54	.	.	.	.	.	.	.	.	rs181998538,COSM4016724,COSM4016725,COSM4016726	30/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	benign(0.009)	.	deleterious(0.03)	0,1,1,1	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,missense_variant,p.Arg1075Cys,ENST00000371502,;MYOF,missense_variant,p.Arg1062Cys,ENST00000358334,;MYOF,missense_variant,p.Arg1075Cys,ENST00000371501,;MYOF,missense_variant,p.Arg1075Cys,ENST00000359263,;MYOF,missense_variant,p.Arg450Cys,ENST00000463743,;	3223	122	161	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100807044	100807044	+	synonymous_variant	Silent	SNP	T	T	C	rs1435949258	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	64	160	0	ENST00000298815.8:c.813T>C	p.Tyr271=	p.Y271=	ENST00000298815	NM_152432.2	271	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	.	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATCTGTA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12552:SF3,hmmpanther:PTHR12552,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF103657,Superfamily_domains:SSF50729	.	.	ENSP00000298815	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000298815	Transcript	.	.	ENSG00000165895	26545	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG42_HUMAN	ARHGAP42	HGNC	H0YDU1_HUMAN	.	UPI00005778C9	SNV	ARHGAP42,synonymous_variant,p.%3D,ENST00000524892,;ARHGAP42,synonymous_variant,p.%3D,ENST00000298815,;ARHGAP42,synonymous_variant,p.%3D,ENST00000531183,;snoU13,downstream_gene_variant,,ENST00000459511,;	816	160	167	SUCCESS
MMP10	4319	.	GRCh37	11	102650037	102650037	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	43	122	0	ENST00000279441.4:c.403A>T	p.Lys135Ter	p.K135*	ENST00000279441	NM_002425.2	135	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS8321.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTTCTCAA	NONE	.	.	hmmpanther:PTHR10201:SF126,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000279441	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000279441	Transcript	.	.	ENSG00000166670	7156	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP10_HUMAN	MMP10	HGNC	.	.	UPI00000422C0	SNV	MMP10,stop_gained,p.Lys135Ter,ENST00000539681,;MMP10,stop_gained,p.Lys135Ter,ENST00000279441,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,;	440	122	118	SUCCESS
ZC3H12C	85463	.	GRCh37	11	110007788	110007788	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	110	0	ENST00000278590.3:c.422A>C	p.Lys141Thr	p.K141T	ENST00000278590	NM_033390.1	141	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS44727.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAAACCTG	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24	.	.	ENSP00000278590	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000278590	Transcript	.	.	ENSG00000149289	29362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.13)	.	ZC12C_HUMAN	ZC3H12C	HGNC	E9PP00_HUMAN	.	UPI0000DD80B8	SNV	ZC3H12C,missense_variant,p.Lys110Thr,ENST00000453089,;ZC3H12C,missense_variant,p.Lys141Thr,ENST00000278590,;ZC3H12C,missense_variant,p.Lys142Thr,ENST00000528673,;	473	110	81	SUCCESS
KMT2A	4297	.	GRCh37	11	118343010	118343011	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	240	93	251	0	ENST00000534358.1:c.1142dup	p.Ala383GlyfsTer6	p.A383Gfs*6	ENST00000534358	NM_005933.3	379	gca/gcAa	0	.	.	.	.	.	A	A/AX	protein_coding	YES	CCDS55791.1	1136-1137	VARSCANI*|PINDEL	.	GAGGGCAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	insertion	KMT2A,frameshift_variant,p.Ala383GlyfsTer6,ENST00000389506,;KMT2A,frameshift_variant,p.Ala383GlyfsTer6,ENST00000354520,;KMT2A,frameshift_variant,p.Ala383GlyfsTer6,ENST00000534358,;KMT2A,frameshift_variant,p.Ala416GlyfsTer6,ENST00000531904,;KMT2A,intron_variant,,ENST00000527869,;KMT2A,intron_variant,,ENST00000533790,;	1159-1160	251	333	SUCCESS
SPA17	53340	.	GRCh37	11	124551357	124551357	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	38	120	0	ENST00000227135.2:c.225+2T>C		p.X75_splice	ENST00000227135	NM_017425.3	75		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8450.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGTATGGT	NONE	.	.	.	.	.	ENSP00000432305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000532692	Transcript	.	.	ENSG00000064199	11210	.	.	HIGH	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP17_HUMAN	SPA17	HGNC	.	.	UPI0000001617	SNV	SPA17,splice_donor_variant,,ENST00000532692,;SPA17,splice_donor_variant,,ENST00000227135,;SPA17,splice_donor_variant,,ENST00000524614,;SIAE,intron_variant,,ENST00000525730,;	.	120	134	SUCCESS
KIRREL3	84623	.	GRCh37	11	126870396	126870396	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	75	0	ENST00000525144.2:c.10T>C	p.Phe4Leu	p.F4L	ENST00000525144	NM_032531.3	4	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS53723.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAGGGTT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000435466	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000525144	Transcript	.	.	ENSG00000149571	23204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.51)	.	KIRR3_HUMAN	KIRREL3	HGNC	B4DT91_HUMAN	.	UPI00000740A0	SNV	KIRREL3,missense_variant,p.Phe4Leu,ENST00000529097,;KIRREL3,missense_variant,p.Phe4Leu,ENST00000525144,;KIRREL3,missense_variant,p.Phe4Leu,ENST00000525704,;KIRREL3-AS3,upstream_gene_variant,,ENST00000525678,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000547738,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000549874,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000533026,;AP002833.1,upstream_gene_variant,,ENST00000404882,;	260	76	118	SUCCESS
ANO5	203859	.	GRCh37	11	22257809	22257809	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781734224	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	101	0	ENST00000324559.8:c.749A>G	p.Tyr250Cys	p.Y250C	ENST00000324559	NM_001142649.1	250	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31444.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTATCCAC	NONE	byFrequency	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23	.	.	ENSP00000315371	.	8/22	.	.	.	.	.	.	.	.	rs781734224	8/22	PASS	ENST00000324559	Transcript	.	.	ENSG00000171714	27337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	ANO5_HUMAN	ANO5	HGNC	.	.	UPI000035B19B	SNV	ANO5,missense_variant,p.Tyr250Cys,ENST00000324559,;	1066	101	90	SUCCESS
TRPM5	29850	.	GRCh37	11	2436237	2436237	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	52	0	ENST00000155858.6:c.1520T>A	p.Leu507Gln	p.L507Q	ENST00000155858	NM_014555.3	507	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS31340.1	1520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAGCCAC	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5	.	.	ENSP00000155858	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000155858	Transcript	.	.	ENSG00000070985	14323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.19)	.	TRPM5_HUMAN	TRPM5	HGNC	.	.	UPI000003B069	SNV	TRPM5,missense_variant,p.Leu507Gln,ENST00000533060,;TRPM5,missense_variant,p.Leu507Gln,ENST00000528453,;TRPM5,missense_variant,p.Leu501Gln,ENST00000533881,;TRPM5,missense_variant,p.Leu509Gln,ENST00000452833,;TRPM5,missense_variant,p.Leu507Gln,ENST00000155858,;	1529	52	64	SUCCESS
OR8U1	219417	.	GRCh37	11	56143291	56143291	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	97	0	ENST00000302270.1:c.192C>T	p.Ser64=	p.S64=	ENST00000302270	NM_001005204.1	64	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41647.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGCAACCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF107,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304188	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302270	Transcript	.	.	ENSG00000172199	19611	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8U1_HUMAN	OR8U1	HGNC	.	.	UPI0000061EEF	SNV	OR8U1,synonymous_variant,p.%3D,ENST00000302270,;	192	97	76	SUCCESS
OR5B21	219968	.	GRCh37	11	58274925	58274925	+	synonymous_variant	Silent	SNP	T	T	A	rs146969149	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	48	142	0	ENST00000360374.2:c.654A>T	p.Ile218=	p.I218=	ENST00000360374	NM_001005218.1	218	atA/atT	0	C:0	C:0	.	C:0.0014	.	A	I	protein_coding	YES	CCDS31552.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCATATGAA	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF288,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	C:0	C:0.0001	ENSP00000353537	C:0	1/1	.	.	.	.	.	.	.	.	rs146969149	1/1	PASS	ENST00000360374	Transcript	.	C:0.0002	ENSG00000198283	19616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	OR5BL_HUMAN	OR5B21	HGNC	.	.	UPI000015FCAA	SNV	OR5B21,synonymous_variant,p.%3D,ENST00000360374,;RP11-655C2.3,upstream_gene_variant,,ENST00000531715,;RP11-655C2.3,upstream_gene_variant,,ENST00000527054,;RP11-655C2.3,upstream_gene_variant,,ENST00000528978,;	654	142	133	SUCCESS
NAALAD2	10003	.	GRCh37	11	89896840	89896840	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	92	0	ENST00000534061.1:c.1278+55T>A		p.*426*	ENST00000534061	NM_005467.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8288.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATGTATG	NONE	.	.	.	.	.	ENSP00000432481	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000534061	Transcript	.	.	ENSG00000077616	14526	.	.	MODIFIER	11/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALD2_HUMAN	NAALAD2	HGNC	E9PJ53_HUMAN,E9PII2_HUMAN	.	UPI0000031A85	SNV	NAALAD2,missense_variant,p.Cys352Ser,ENST00000525171,;NAALAD2,intron_variant,,ENST00000375944,;NAALAD2,intron_variant,,ENST00000534061,;NAALAD2,intron_variant,,ENST00000321955,;NAALAD2,3_prime_UTR_variant,,ENST00000527493,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000524501,;NAALAD2,intron_variant,,ENST00000532691,;NAALAD2,downstream_gene_variant,,ENST00000529090,;	.	92	92	SUCCESS
KIAA1731	0	.	GRCh37	11	93432696	93432696	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	64	160	0	ENST00000325212.6:c.4618A>T	p.Arg1540Trp	p.R1540W	ENST00000325212		1540	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS44708.1	4618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGGGTA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,missense_variant,p.Arg1540Trp,ENST00000325212,;KIAA1731,missense_variant,p.Arg1540Trp,ENST00000411936,;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;KIAA1731,5_prime_UTR_variant,,ENST00000530425,;KIAA1731,intron_variant,,ENST00000531700,;KIAA1731,downstream_gene_variant,,ENST00000531877,;KIAA1731,downstream_gene_variant,,ENST00000531622,;	4780	160	151	SUCCESS
STAB2	55576	.	GRCh37	12	104149232	104149232	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs375211716	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	81	0	ENST00000388887.2:c.6867C>G	p.Cys2289Trp	p.C2289W	ENST00000388887	NM_017564.9	2289	tgC/tgG	0	T:0.0002	.	.	.	.	G	C/W	protein_coding	YES	CCDS31888.1	6867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCTATCG	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436,Superfamily_domains:SSF82153	.	T:0	ENSP00000373539	.	62/69	.	.	.	.	.	.	.	.	rs375211716	62/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Cys2289Trp,ENST00000388887,;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,non_coding_transcript_exon_variant,,ENST00000548073,;STAB2,upstream_gene_variant,,ENST00000548579,;	7071	81	75	SUCCESS
ISCU	23479	.	GRCh37	12	108960984	108960984	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	76	0	ENST00000311893.9:c.358A>T	p.Ile120Phe	p.I120F	ENST00000311893	NM_213595.2	120	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS44966.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATCAAA	NONE	.	.	hmmpanther:PTHR10093,Pfam_domain:PF01592,Gene3D:3.90.1010.10,TIGRFAM_domain:TIGR01999,Superfamily_domains:SSF82649	.	.	ENSP00000310623	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000311893	Transcript	.	.	ENSG00000136003	29882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious_low_confidence(0)	.	ISCU_HUMAN	ISCU	HGNC	.	.	UPI000021CA9A	SNV	ISCU,missense_variant,p.Ile120Phe,ENST00000539593,;ISCU,missense_variant,p.Ile120Phe,ENST00000431221,;ISCU,missense_variant,p.Ile95Phe,ENST00000338291,;ISCU,missense_variant,p.Ile120Phe,ENST00000547005,;ISCU,missense_variant,p.Ile120Phe,ENST00000311893,;ISCU,missense_variant,p.Ile95Phe,ENST00000392807,;ISCU,missense_variant,p.Ile120Phe,ENST00000535729,;ISCU,upstream_gene_variant,,ENST00000540154,;ISCU,3_prime_UTR_variant,,ENST00000539580,;ISCU,non_coding_transcript_exon_variant,,ENST00000545932,;ISCU,non_coding_transcript_exon_variant,,ENST00000544493,;ISCU,non_coding_transcript_exon_variant,,ENST00000552072,;ISCU,non_coding_transcript_exon_variant,,ENST00000535405,;ISCU,upstream_gene_variant,,ENST00000538193,;	380	76	54	SUCCESS
TAS2R31	259290	.	GRCh37	12	11183213	11183213	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	111	240	0	ENST00000390675.2:c.722A>T	p.Tyr241Phe	p.Y241F	ENST00000390675	NM_176885.2	241	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS53747.1	722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGTAAACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF54,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000375093	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390675	Transcript	.	.	ENSG00000256436	19113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.1)	.	T2R31_HUMAN	TAS2R31	HGNC	.	.	UPI000000D820	SNV	TAS2R31,missense_variant,p.Tyr241Phe,ENST00000390675,;AC018630.1,upstream_gene_variant,,ENST00000601123,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRR4,intron_variant,,ENST00000541456,;	794	241	257	SUCCESS
C12orf66	0	.	GRCh37	12	64609478	64609478	+	synonymous_variant	Silent	SNP	G	G	T	rs781428916	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	49	1	ENST00000398055.3:c.501C>A	p.Ile167=	p.I167=	ENST00000398055	NM_152440.4	167	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS41803.1	501	MUTECT|MUSE	.	TTCATGATGGC	NONE	.	.	hmmpanther:PTHR31581,hmmpanther:PTHR31581:SF1,Pfam_domain:PF09404,Superfamily_domains:0053959	.	.	ENSP00000381132	.	2/3	.	.	.	.	.	.	.	.	rs781428916,COSM431658	2/3	PASS	ENST00000398055	Transcript	.	.	ENSG00000174206	26517	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CL066_HUMAN	C12orf66	HGNC	.	.	UPI000013F222	SNV	C12orf66,synonymous_variant,p.%3D,ENST00000544871,;C12orf66,synonymous_variant,p.%3D,ENST00000311915,;C12orf66,synonymous_variant,p.%3D,ENST00000398055,;	555	50	53	SUCCESS
NOP2	4839	.	GRCh37	12	6666361	6666361	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	72	177	0	ENST00000322166.5:c.2237A>G	p.His746Arg	p.H746R	ENST00000322166	NM_001258308.1	746	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS58204.1	2336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATGATGG	NONE	.	.	.	.	.	ENSP00000371858	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000382421	Transcript	.	.	ENSG00000111641	7867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.53)	.	NOP2_HUMAN	NOP2	HGNC	.	.	UPI00005C3039	SNV	NOP2,missense_variant,p.His742Arg,ENST00000399466,;NOP2,missense_variant,p.His746Arg,ENST00000322166,;NOP2,missense_variant,p.His779Arg,ENST00000382421,;NOP2,missense_variant,p.His746Arg,ENST00000537442,;NOP2,missense_variant,p.His742Arg,ENST00000541778,;NOP2,3_prime_UTR_variant,,ENST00000545200,;IFFO1,upstream_gene_variant,,ENST00000336604,;NOP2,downstream_gene_variant,,ENST00000542944,;IFFO1,upstream_gene_variant,,ENST00000356896,;IFFO1,upstream_gene_variant,,ENST00000396840,;NOP2,downstream_gene_variant,,ENST00000542015,;NOP2,downstream_gene_variant,,ENST00000537708,;IFFO1,upstream_gene_variant,,ENST00000488007,;IFFO1,upstream_gene_variant,,ENST00000487279,;NOP2,downstream_gene_variant,,ENST00000544630,;NOP2,downstream_gene_variant,,ENST00000536506,;NOP2,downstream_gene_variant,,ENST00000542919,;	2412	177	190	SUCCESS
PPP1R12A	4659	.	GRCh37	12	80328602	80328602	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	87	0	ENST00000261207.5:c.110A>G	p.Lys37Arg	p.K37R	ENST00000261207	NM_001143885.1	37	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS44947.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACTTCACC	NONE	.	.	hmmpanther:PTHR24179:SF20,hmmpanther:PTHR24179,PIRSF_domain:PIRSF038141,Superfamily_domains:SSF48403	.	.	ENSP00000389168	.	1/25	.	.	.	.	.	.	.	.	COSM1299893	1/25	PASS	ENST00000450142	Transcript	.	.	ENSG00000058272	7618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.964)	.	tolerated(0.72)	1	MYPT1_HUMAN	PPP1R12A	HGNC	F8VW28_HUMAN	.	UPI0000073E69	SNV	PPP1R12A,missense_variant,p.Lys37Arg,ENST00000547330,;PPP1R12A,missense_variant,p.Lys37Arg,ENST00000450142,;PPP1R12A,missense_variant,p.Lys37Arg,ENST00000550107,;PPP1R12A,missense_variant,p.Lys37Arg,ENST00000261207,;PPP1R12A,missense_variant,p.Lys37Arg,ENST00000437004,;PPP1R12A,upstream_gene_variant,,ENST00000550510,;RP11-84G21.1,upstream_gene_variant,,ENST00000552885,;	377	87	83	SUCCESS
LATS2	26524	.	GRCh37	13	21562401	21562401	+	synonymous_variant	Silent	SNP	G	G	A	rs751957428	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	24	0	ENST00000382592.4:c.1518C>T	p.Tyr506=	p.Y506=	ENST00000382592	NM_014572.2	506	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS9294.1	1518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCGTACTC	NONE	byFrequency	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149,Low_complexity_(Seg):seg	.	.	ENSP00000372035	.	4/8	.	.	.	.	.	.	.	.	rs751957428	4/8	PASS	ENST00000382592	Transcript	.	.	ENSG00000150457	6515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LATS2_HUMAN	LATS2	HGNC	.	.	UPI000013DBF5	SNV	LATS2,synonymous_variant,p.%3D,ENST00000542899,;LATS2,synonymous_variant,p.%3D,ENST00000382592,;LATS2,downstream_gene_variant,,ENST00000472754,;	1924	24	19	SUCCESS
MTUS2	23281	.	GRCh37	13	29600389	29600389	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777937026	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	72	143	1	ENST00000431530.3:c.1584G>T	p.Lys528Asn	p.K528N	ENST00000431530	NM_001033602.2	528	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS45022.1	1584	RADIA|MUTECT|MUSE	.	GATAAGATTGA	NONE	.	.	hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	.	.	ENSP00000392057	.	1/14	.	.	.	.	.	.	.	.	rs777937026	1/14	PASS	ENST00000431530	Transcript	.	.	ENSG00000132938	20595	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.361)	.	deleterious(0.03)	.	.	MTUS2	HGNC	J3KQA9_HUMAN,B4DWQ4_HUMAN	.	UPI0000F734AC	SNV	MTUS2,missense_variant,p.Lys528Asn,ENST00000431530,;	1642	144	166	SUCCESS
NAA16	79612	.	GRCh37	13	41946367	41946367	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	94	250	0	ENST00000379406.3:c.1976A>T	p.Lys659Met	p.K659M	ENST00000379406	NM_024561.4	659	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS9379.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTAAGTTCC	NONE	.	.	PIRSF_domain:PIRSF000422,Pfam_domain:PF12569,hmmpanther:PTHR22767:SF5,hmmpanther:PTHR22767	.	.	ENSP00000368716	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000379406	Transcript	.	.	ENSG00000172766	26164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	NAA16_HUMAN	NAA16	HGNC	A4FU51_HUMAN	.	UPI00001B559E	SNV	NAA16,missense_variant,p.Lys659Met,ENST00000379406,;NAA16,non_coding_transcript_exon_variant,,ENST00000463114,;NAA16,non_coding_transcript_exon_variant,,ENST00000497143,;NAA16,non_coding_transcript_exon_variant,,ENST00000495148,;NAA16,upstream_gene_variant,,ENST00000469708,;NAA16,upstream_gene_variant,,ENST00000477452,;NAA16,downstream_gene_variant,,ENST00000497727,;NAA16,downstream_gene_variant,,ENST00000464857,;	2300	250	231	SUCCESS
DLEU7	220107	.	GRCh37	13	51417697	51417697	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	21	0	ENST00000504404.1:c.86G>A	p.Gly29Asp	p.G29D	ENST00000504404		29	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS53869.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCCCAC	NONE	.	.	.	.	.	ENSP00000420976	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000400393	Transcript	.	.	ENSG00000186047	17567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	tolerated(0.12)	.	LEU7_HUMAN	DLEU7	HGNC	.	.	UPI0000684279	SNV	DLEU7,missense_variant,p.Gly29Asp,ENST00000504404,;DLEU7,missense_variant,p.Gly29Asp,ENST00000400393,;DLEU7-AS1,intron_variant,,ENST00000413510,;	379	21	20	SUCCESS
CKB	1152	.	GRCh37	14	103987744	103987744	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769546303	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	16	0	ENST00000348956.2:c.509C>T	p.Ala170Val	p.A170V	ENST00000348956	NM_001823.4	170	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9981.1	509	RADIA|SOMATICSNIPER|MUSE	.	GGCCCGCCAGG	NONE	byFrequency	.	PROSITE_profiles:PS51510,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931	.	.	ENSP00000299198	.	5/8	.	.	.	.	.	.	.	.	rs769546303	5/8	PASS	ENST00000348956	Transcript	.	.	ENSG00000166165	1991	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.1)	.	KCRB_HUMAN	CKB	HGNC	G3V4N7_HUMAN,G3V461_HUMAN	.	UPI000012DCBA	SNV	CKB,missense_variant,p.Ala170Val,ENST00000348956,;CKB,missense_variant,p.Ala170Val,ENST00000553878,;CKB,upstream_gene_variant,,ENST00000555039,;CKB,downstream_gene_variant,,ENST00000557530,;CKB,upstream_gene_variant,,ENST00000553610,;RP11-600F24.7,downstream_gene_variant,,ENST00000568177,;CKB,3_prime_UTR_variant,,ENST00000553652,;CKB,non_coding_transcript_exon_variant,,ENST00000554282,;CKB,non_coding_transcript_exon_variant,,ENST00000553528,;CKB,non_coding_transcript_exon_variant,,ENST00000557569,;CKB,non_coding_transcript_exon_variant,,ENST00000554426,;CKB,non_coding_transcript_exon_variant,,ENST00000557287,;CKB,upstream_gene_variant,,ENST00000554989,;CKB,upstream_gene_variant,,ENST00000555366,;CKB,downstream_gene_variant,,ENST00000553994,;CKB,downstream_gene_variant,,ENST00000554705,;CKB,downstream_gene_variant,,ENST00000555770,;CKB,downstream_gene_variant,,ENST00000555659,;	867	16	19	SUCCESS
TSSK4	283629	.	GRCh37	14	24675008	24675008	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	40	0	ENST00000287913.6:c.-122T>C		p.*41*	ENST00000287913				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53890.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTATATAGGCA	NONE	.	.	.	.	.	ENSP00000339179	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000339917	Transcript	.	.	ENSG00000139908	19825	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSSK4_HUMAN	TSSK4	HGNC	.	.	UPI0000407A85	SNV	TSSK4,splice_region_variant,,ENST00000556621,;TSSK4,5_prime_UTR_variant,,ENST00000339917,;TSSK4,5_prime_UTR_variant,,ENST00000287913,;TM9SF1,intron_variant,,ENST00000530611,;TM9SF1,intron_variant,,ENST00000556387,;CHMP4A,downstream_gene_variant,,ENST00000530996,;CHMP4A,downstream_gene_variant,,ENST00000609024,;TSSK4,upstream_gene_variant,,ENST00000553766,;TSSK4,upstream_gene_variant,,ENST00000555092,;CHMP4A,downstream_gene_variant,,ENST00000347519,;TSSK4,upstream_gene_variant,,ENST00000428351,;CHMP4A,downstream_gene_variant,,ENST00000533011,;CHMP4A,downstream_gene_variant,,ENST00000542700,;TSSK4,splice_region_variant,,ENST00000554420,;CHMP4A,downstream_gene_variant,,ENST00000524955,;CHMP4A,downstream_gene_variant,,ENST00000534106,;CHMP4A,downstream_gene_variant,,ENST00000533523,;AL136419.6,downstream_gene_variant,,ENST00000565988,;CHMP4A,downstream_gene_variant,,ENST00000552620,;	83	40	54	SUCCESS
DPPA3P2	400206	.	GRCh37	14	36841098	36841098	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	303	162	443	1	ENST00000557188.1:n.729A>G		p.*243*	ENST00000557188				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATAAATCTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000557188	Transcript	.	.	ENSG00000188831	20417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPPA3P2	HGNC	.	.	.	SNV	DPPA3P2,non_coding_transcript_exon_variant,,ENST00000557188,;DPPA3P2,non_coding_transcript_exon_variant,,ENST00000340350,;DPPA3P2,downstream_gene_variant,,ENST00000553589,;	729	444	466	SUCCESS
DLGAP5	9787	.	GRCh37	14	55650384	55650384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	58	165	0	ENST00000247191.2:c.326A>T	p.Gln109Leu	p.Q109L	ENST00000247191	NM_014750.4	109	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9723.1	326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTGCTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12353	.	.	ENSP00000247191	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000247191	Transcript	.	.	ENSG00000126787	16864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	DLGP5_HUMAN	DLGAP5	HGNC	G3V543_HUMAN,G3V4E5_HUMAN	.	UPI000013CC13	SNV	DLGAP5,missense_variant,p.Gln109Leu,ENST00000557645,;DLGAP5,missense_variant,p.Gln109Leu,ENST00000247191,;DLGAP5,missense_variant,p.Gln109Leu,ENST00000395425,;DLGAP5,missense_variant,p.Gln109Leu,ENST00000554067,;	543	165	157	SUCCESS
EXD2	55218	.	GRCh37	14	69701705	69701705	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	74	176	1	ENST00000312994.5:c.1006A>T	p.Arg336Ter	p.R336*	ENST00000312994		336	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS53902.1	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCAGAAAA	NONE	.	.	hmmpanther:PTHR13620:SF0,hmmpanther:PTHR13620	.	.	ENSP00000387331	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000409018	Transcript	.	.	ENSG00000081177	20217	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXD2_HUMAN	EXD2	HGNC	C9JLF4_HUMAN	.	UPI0000577ED7	SNV	EXD2,stop_gained,p.Arg211Ter,ENST00000449989,;EXD2,stop_gained,p.Arg336Ter,ENST00000409018,;EXD2,stop_gained,p.Arg211Ter,ENST00000409014,;EXD2,stop_gained,p.Arg211Ter,ENST00000409949,;EXD2,stop_gained,p.Arg211Ter,ENST00000409242,;EXD2,stop_gained,p.Arg336Ter,ENST00000312994,;EXD2,stop_gained,p.Arg211Ter,ENST00000409675,;EXD2,downstream_gene_variant,,ENST00000413191,;RP11-363J20.2,downstream_gene_variant,,ENST00000556316,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,downstream_gene_variant,,ENST00000494629,;EXD2,downstream_gene_variant,,ENST00000489133,;EXD2,upstream_gene_variant,,ENST00000465286,;	1134	177	167	SUCCESS
PGF	5228	.	GRCh37	14	75412966	75412966	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	60	0	ENST00000405431.2:c.638+116G>A		p.*213*	ENST00000405431		145		0	.	.	.	.	.	T	K	protein_coding	YES	CCDS9835.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCTTGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF9	.	.	ENSP00000451040	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000555567	Transcript	.	.	ENSG00000119630	8893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLGF_HUMAN	PGF	HGNC	Q53XY6_HUMAN	.	UPI000002B14D	SNV	PGF,synonymous_variant,p.%3D,ENST00000238607,;PGF,synonymous_variant,p.%3D,ENST00000555567,;PGF,intron_variant,,ENST00000553716,;PGF,intron_variant,,ENST00000405431,;PGF,non_coding_transcript_exon_variant,,ENST00000555253,;PGF,intron_variant,,ENST00000557748,;PGF,downstream_gene_variant,,ENST00000555234,;PGF,downstream_gene_variant,,ENST00000556939,;	977	60	62	SUCCESS
DMXL2	23312	.	GRCh37	15	51860705	51860705	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	251	196	463	0	ENST00000251076.5:c.264A>T	p.Ile88=	p.I88=	ENST00000251076	NM_015263.3	88	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS53946.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTATGCC	BUFFER|p.N89H|c.265A>C|3	.	.	Superfamily_domains:SSF50978,hmmpanther:PTHR13950:SF11,hmmpanther:PTHR13950	.	.	ENSP00000441858	.	3/43	.	.	.	.	.	.	.	.	.	3/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,synonymous_variant,p.%3D,ENST00000449909,;DMXL2,synonymous_variant,p.%3D,ENST00000543779,;DMXL2,synonymous_variant,p.%3D,ENST00000251076,;DMXL2,non_coding_transcript_exon_variant,,ENST00000560421,;DMXL2,non_coding_transcript_exon_variant,,ENST00000558507,;	354	464	447	SUCCESS
UNC13C	440279	.	GRCh37	15	54306719	54306720	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	136	57	160	0	ENST00000260323.11:c.1625dup	p.Thr543HisfsTer3	p.T543Hfs*3	ENST00000260323	NM_001080534.1	540	gat/gaTt	0	.	.	.	.	.	T	D/DX	protein_coding	YES	CCDS45264.1	1619-1620	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTGATTTTT	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	COSM1373549,COSM1373550	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	insertion	UNC13C,frameshift_variant,p.Thr543HisfsTer3,ENST00000537900,;UNC13C,frameshift_variant,p.Thr543HisfsTer3,ENST00000545554,;UNC13C,frameshift_variant,p.Thr543HisfsTer3,ENST00000260323,;	1619-1620	160	193	SUCCESS
DYX1C1	0	.	GRCh37	15	55759146	55759146	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs757111754	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	82	261	0	ENST00000321149.3:c.619A>T	p.Arg207Ter	p.R207*	ENST00000321149	NM_130810.3	207	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS10154.1	619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTAGATG	NONE	.	.	hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF277	.	.	ENSP00000323275	.	5/10	.	.	.	.	.	.	.	.	rs757111754	5/10	PASS	ENST00000321149	Transcript	1	.	ENSG00000256061	21493	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYXC1_HUMAN	DYX1C1	HGNC	.	.	UPI000013E5B8	SNV	DYX1C1,stop_gained,p.Arg207Ter,ENST00000380679,;DYX1C1,stop_gained,p.Arg207Ter,ENST00000448430,;DYX1C1,stop_gained,p.Arg207Ter,ENST00000321149,;DYX1C1,stop_gained,p.Arg207Ter,ENST00000457155,;DYX1C1,stop_gained,p.Arg207Ter,ENST00000348518,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000568310,;DYX1C1,intron_variant,,ENST00000524160,;DYX1C1,downstream_gene_variant,,ENST00000522437,;	987	261	222	SUCCESS
FAM96A	0	.	GRCh37	15	64386069	64386069	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	39	1	ENST00000300030.3:c.-102C>A		p.*34*	ENST00000300030	NM_032231.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10189.1	.	MUTECT|MUSE	.	GACAAGCCTAA	NONE	.	.	.	.	.	ENSP00000300030	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000300030	Transcript	.	.	ENSG00000166797	26235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA96A_HUMAN	FAM96A	HGNC	.	.	UPI0000137917	SNV	FAM96A,5_prime_UTR_variant,,ENST00000300030,;SNX1,upstream_gene_variant,,ENST00000559844,;SNX1,upstream_gene_variant,,ENST00000560829,;FAM96A,upstream_gene_variant,,ENST00000557835,;SNX1,upstream_gene_variant,,ENST00000559061,;SNX1,upstream_gene_variant,,ENST00000353874,;SNX1,upstream_gene_variant,,ENST00000261889,;SNX1,upstream_gene_variant,,ENST00000561026,;FAM96A,upstream_gene_variant,,ENST00000559950,;SNX1,upstream_gene_variant,,ENST00000558040,;FAM96A,upstream_gene_variant,,ENST00000380290,;FAM96A,upstream_gene_variant,,ENST00000559705,;SNX1,upstream_gene_variant,,ENST00000559389,;SNX1,upstream_gene_variant,,ENST00000560260,;SNX1,upstream_gene_variant,,ENST00000380285,;	149	40	66	SUCCESS
C15orf39	56905	.	GRCh37	15	75501101	75501101	+	synonymous_variant	Silent	SNP	G	G	A	rs761991024	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	26	0	ENST00000360639.2:c.2712G>A	p.Gln904=	p.Q904=	ENST00000360639		904	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS10276.1	2712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCAGCTGCC	NONE	.	.	.	.	.	ENSP00000353854	.	2/3	.	.	.	.	.	.	.	.	rs761991024	2/3	PASS	ENST00000360639	Transcript	.	.	ENSG00000167173	24497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO039_HUMAN	C15orf39	HGNC	H3BT66_HUMAN,H3BRS2_HUMAN,H3BN41_HUMAN	.	UPI000004F079	SNV	C15orf39,synonymous_variant,p.%3D,ENST00000360639,;C15orf39,synonymous_variant,p.%3D,ENST00000394987,;C15orf39,synonymous_variant,p.%3D,ENST00000567617,;C15orf39,synonymous_variant,p.%3D,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;C15orf39,downstream_gene_variant,,ENST00000563905,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	3032	26	47	SUCCESS
AKAP13	11214	.	GRCh37	15	86122602	86122602	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754487409	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	55	174	0	ENST00000394518.2:c.1303G>T	p.Asp435Tyr	p.D435Y	ENST00000394518	NM_007200.4	435	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS32320.1	1303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGACCAG	NONE	.	.	hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	7/37	.	.	.	.	.	.	.	.	rs754487409	7/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious_low_confidence(0.04)	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,missense_variant,p.Asp435Tyr,ENST00000394518,;AKAP13,missense_variant,p.Asp435Tyr,ENST00000559362,;AKAP13,missense_variant,p.Asp435Tyr,ENST00000361243,;AKAP13,downstream_gene_variant,,ENST00000558166,;AKAP13,downstream_gene_variant,,ENST00000558811,;RP11-815J21.2,non_coding_transcript_exon_variant,,ENST00000561409,;AKAP13,upstream_gene_variant,,ENST00000560340,;AKAP13,upstream_gene_variant,,ENST00000561337,;	1384	174	139	SUCCESS
SV2B	9899	.	GRCh37	15	91769596	91769596	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	74	0	ENST00000330276.4:c.103G>A	p.Val35Ile	p.V35I	ENST00000330276		35	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10370.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGTCACC	NONE	.	.	hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF1,TIGRFAM_domain:TIGR01299	.	.	ENSP00000377779	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000394232	Transcript	.	.	ENSG00000185518	16874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	deleterious(0)	.	SV2B_HUMAN	SV2B	HGNC	.	.	UPI000006FCF1	SNV	SV2B,missense_variant,p.Val35Ile,ENST00000330276,;SV2B,missense_variant,p.Val35Ile,ENST00000394232,;SV2B,intron_variant,,ENST00000545111,;SV2B,intron_variant,,ENST00000557291,;SV2B,missense_variant,p.Val35Ile,ENST00000557410,;	573	74	76	SUCCESS
LONP2	83752	.	GRCh37	16	48278525	48278525	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	30	0	ENST00000285737.4:c.226del	p.Leu76CysfsTer26	p.L76Cfs*26	ENST00000285737	NM_031490.2	76	Ctg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS10734.1	226	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCCGCTGCAC	NONE	.	.	HAMAP:MF_03121,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,TIGRFAM_domain:TIGR00763,Pfam_domain:PF02190,PIRSF_domain:PIRSF001174,SMART_domains:SM00464,Superfamily_domains:SSF88697	.	.	ENSP00000285737	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000285737	Transcript	.	.	ENSG00000102910	20598	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LONP2_HUMAN	LONP2	HGNC	Q9BU35_HUMAN	.	UPI000000DCD1	deletion	LONP2,frameshift_variant,p.Leu76CysfsTer26,ENST00000535754,;LONP2,frameshift_variant,p.Leu76CysfsTer26,ENST00000285737,;ABCC11,intron_variant,,ENST00000537808,;ABCC11,intron_variant,,ENST00000356608,;ABCC11,intron_variant,,ENST00000569991,;LONP2,frameshift_variant,p.Leu76CysfsTer26,ENST00000416006,;LONP2,frameshift_variant,p.Leu76CysfsTer26,ENST00000566755,;ABCC11,upstream_gene_variant,,ENST00000567385,;	319	30	41	SUCCESS
TAT	6898	.	GRCh37	16	71602186	71602186	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	82	0	ENST00000355962.4:c.1226G>T	p.Cys409Phe	p.C409F	ENST00000355962	NM_000353.2	409	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS10903.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCACTGC	NONE	.	.	hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	.	.	ENSP00000348234	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	SNV	TAT,missense_variant,p.Cys409Phe,ENST00000355962,;ZNF19,upstream_gene_variant,,ENST00000566202,;RNU6-1061P,upstream_gene_variant,,ENST00000516530,;RP11-432I5.1,intron_variant,,ENST00000561529,;ZNF19,upstream_gene_variant,,ENST00000568446,;TAT,non_coding_transcript_exon_variant,,ENST00000564007,;	1360	82	86	SUCCESS
ZFP1	162239	.	GRCh37	16	75203627	75203627	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	99	231	0	ENST00000393430.2:c.619A>G	p.Thr207Ala	p.T207A	ENST00000393430		207	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10914.2	619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATACTGGA	BUFFER|p.R204I|c.611G>T|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF248,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000377080	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000393430	Transcript	.	.	ENSG00000184517	23328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	deleterious(0.03)	.	ZFP1_HUMAN	ZFP1	HGNC	Q29RW8_HUMAN,J3KNQ1_HUMAN	.	UPI00001FFC12	SNV	ZFP1,missense_variant,p.Thr174Ala,ENST00000332307,;ZFP1,missense_variant,p.Thr207Ala,ENST00000393430,;ZFP1,missense_variant,p.Thr207Ala,ENST00000570010,;ZFP1,3_prime_UTR_variant,,ENST00000464850,;ZFP1,3_prime_UTR_variant,,ENST00000568079,;ZFP1,downstream_gene_variant,,ENST00000567481,;ZFP1,downstream_gene_variant,,ENST00000563356,;	743	231	266	SUCCESS
USP22	23326	.	GRCh37	17	20908264	20908264	+	synonymous_variant	Silent	SNP	C	C	T	rs1288810684	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	70	0	ENST00000261497.4:c.1362G>A	p.Thr454=	p.T454=	ENST00000261497	NM_015276.1	454	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42285.1	1362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCGTGGG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000261497	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,synonymous_variant,p.%3D,ENST00000261497,;USP22,synonymous_variant,p.%3D,ENST00000537526,;RP11-746M1.1,downstream_gene_variant,,ENST00000580962,;RP11-344E13.3,downstream_gene_variant,,ENST00000583481,;RP11-344E13.3,downstream_gene_variant,,ENST00000581958,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000463692,;USP22,downstream_gene_variant,,ENST00000478443,;	1566	70	98	SUCCESS
SPATA32	124783	.	GRCh37	17	43332862	43332862	+	synonymous_variant	Silent	SNP	G	G	A	rs373812499	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	46	81	0	ENST00000331780.4:c.687C>T	p.Ser229=	p.S229=	ENST00000331780	NM_152343.2	229	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32669.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGGACAG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Pfam_domain:PF15310	.	.	ENSP00000331532	.	4/5	.	.	.	.	.	.	.	.	rs373812499	4/5	PASS	ENST00000331780	Transcript	.	.	ENSG00000184361	26349	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT32_HUMAN	SPATA32	HGNC	K7EQM9_HUMAN,B7Z7K7_HUMAN	.	UPI000049DE53	SNV	SPATA32,synonymous_variant,p.%3D,ENST00000543122,;SPATA32,synonymous_variant,p.%3D,ENST00000331780,;MAP3K14-AS1,intron_variant,,ENST00000590100,;MAP3K14-AS1,intron_variant,,ENST00000591263,;MAP3K14-AS1,intron_variant,,ENST00000588504,;MAP3K14-AS1,intron_variant,,ENST00000588160,;MAP3K14-AS1,intron_variant,,ENST00000585346,;MAP3K14-AS1,intron_variant,,ENST00000592422,;MAP3K14-AS1,intron_variant,,ENST00000588698,;SPATA32,3_prime_UTR_variant,,ENST00000586359,;SPATA32,3_prime_UTR_variant,,ENST00000588866,;	783	81	93	SUCCESS
CA10	56934	.	GRCh37	17	49825104	49825104	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	84	171	0	ENST00000285273.4:c.354T>A	p.Ser118=	p.S118=	ENST00000285273	NM_001082533.1	118	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32684.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAGATAT	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000405388	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000451037	Transcript	.	.	ENSG00000154975	1369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH10_HUMAN	CA10	HGNC	I3L375_HUMAN,B4DGL6_HUMAN	.	UPI000000167C	SNV	CA10,synonymous_variant,p.%3D,ENST00000575097,;CA10,synonymous_variant,p.%3D,ENST00000285273,;CA10,synonymous_variant,p.%3D,ENST00000570565,;CA10,synonymous_variant,p.%3D,ENST00000340813,;CA10,synonymous_variant,p.%3D,ENST00000575181,;CA10,synonymous_variant,p.%3D,ENST00000451037,;CA10,synonymous_variant,p.%3D,ENST00000442502,;CA10,non_coding_transcript_exon_variant,,ENST00000571918,;CA10,3_prime_UTR_variant,,ENST00000571371,;	1295	171	275	SUCCESS
ABCA8	10351	.	GRCh37	17	66865908	66865908	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	267	97	260	0	ENST00000269080.2:c.4524G>A	p.Leu1508=	p.L1508=	ENST00000269080	NM_007168.2	1508	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11680.1	4524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCAGAGA	NONE	.	.	hmmpanther:PTHR19229:SF115,hmmpanther:PTHR19229	.	.	ENSP00000269080	.	36/38	.	.	.	.	.	.	.	.	.	36/38	PASS	ENST00000269080	Transcript	.	.	ENSG00000141338	38	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA8_HUMAN	ABCA8	HGNC	K7ELK9_HUMAN	.	UPI000004C4B7	SNV	ABCA8,synonymous_variant,p.%3D,ENST00000269080,;ABCA8,synonymous_variant,p.%3D,ENST00000430352,;ABCA8,synonymous_variant,p.%3D,ENST00000586539,;	4662	260	365	SUCCESS
CCDC105	126402	.	GRCh37	19	15131318	15131318	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748997369	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	41	119	0	ENST00000292574.3:c.721C>T	p.Arg241Trp	p.R241W	ENST00000292574	NM_173482.2	241	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS12322.1	721	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGAGCGGCTC	NONE	byFrequency	.	Pfam_domain:PF03148	.	.	ENSP00000292574	.	3/7	.	.	.	.	.	.	.	.	rs748997369	3/7	PASS	ENST00000292574	Transcript	.	.	ENSG00000160994	26866	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CC105_HUMAN	CCDC105	HGNC	.	.	UPI0000073091	SNV	CCDC105,missense_variant,p.Arg241Trp,ENST00000292574,;SLC1A6,intron_variant,,ENST00000595863,;	803	120	123	SUCCESS
DOT1L	84444	.	GRCh37	19	2216983	2216983	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1329819181	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	96	0	ENST00000398665.3:c.2438C>T	p.Pro813Leu	p.P813L	ENST00000398665	NM_032482.2	813	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42460.1	2438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCCTACC	NONE	.	.	hmmpanther:PTHR21451:SF0,hmmpanther:PTHR21451,PIRSF_domain:PIRSF037123	.	.	ENSP00000381657	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000398665	Transcript	.	.	ENSG00000104885	24948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	deleterious_low_confidence(0)	.	DOT1L_HUMAN	DOT1L	HGNC	.	.	UPI000002A839	SNV	DOT1L,missense_variant,p.Pro813Leu,ENST00000398665,;DOT1L,downstream_gene_variant,,ENST00000586024,;AC004490.1,upstream_gene_variant,,ENST00000585593,;DOT1L,downstream_gene_variant,,ENST00000591498,;DOT1L,downstream_gene_variant,,ENST00000608122,;DOT1L,non_coding_transcript_exon_variant,,ENST00000482433,;DOT1L,downstream_gene_variant,,ENST00000472540,;	2474	96	110	SUCCESS
ZNF492	57615	.	GRCh37	19	22847971	22847971	+	synonymous_variant	Silent	SNP	T	T	A	rs778741323	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	98	266	2	ENST00000456783.2:c.1500T>A	p.Thr500=	p.T500=	ENST00000456783	NM_020855.2	500	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46032.1	1500	RADIA|VARSCANS	.	CATACTGGAGA	NONE	byFrequency	.	PROSITE_profiles:PS50157,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000413660	.	4/4	.	.	.	.	.	.	.	.	rs778741323	4/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,synonymous_variant,p.%3D,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	1744	269	323	SUCCESS
RYR1	6261	.	GRCh37	19	39056278	39056278	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	410	13	380	1	ENST00000359596.3:c.13304A>G	p.Asp4435Gly	p.D4435G	ENST00000359596		4435	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS33011.1	13304	MUTECT|MUSE	.	TGCCGACGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF06459	.	.	ENSP00000352608	.	91/106	.	.	.	.	.	.	.	.	.	91/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Asp4430Gly,ENST00000355481,;RYR1,missense_variant,p.Asp4430Gly,ENST00000360985,;RYR1,missense_variant,p.Asp4435Gly,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000593677,;RYR1,downstream_gene_variant,,ENST00000594335,;	13304	381	423	SUCCESS
CEACAM5	1048	.	GRCh37	19	42224866	42224866	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	57	124	0	ENST00000221992.6:c.1796C>T	p.Ser599Phe	p.S599F	ENST00000221992	NM_004363.2	599	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS12584.1	1796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726	.	.	ENSP00000221992	.	8/10	.	.	.	.	.	.	.	.	COSM3227472	8/10	PASS	ENST00000221992	Transcript	.	.	ENSG00000105388	1817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.985)	.	tolerated(0.28)	1	CEAM5_HUMAN	CEACAM5	HGNC	Q7KZ28_HUMAN,M0QXV9_HUMAN	.	UPI000013C7E5	SNV	CEACAM5,missense_variant,p.Ser599Phe,ENST00000221992,;CEACAM5,missense_variant,p.Ser598Phe,ENST00000398599,;CEACAM5,missense_variant,p.Ser599Phe,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000595403,;	1910	124	140	SUCCESS
STAP2	55620	.	GRCh37	19	4325516	4325516	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	39	0	ENST00000594605.1:c.856A>T	p.Lys286Ter	p.K286*	ENST00000594605	NM_001013841.1	286	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS12128.1	856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTTGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF2	.	.	ENSP00000468927	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000600324	Transcript	.	.	ENSG00000178078	30430	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAP2_HUMAN	STAP2	HGNC	.	.	UPI00001AF0BC	SNV	STAP2,stop_gained,p.Lys286Ter,ENST00000594605,;STAP2,stop_gained,p.Lys14Ter,ENST00000601956,;STAP2,stop_gained,p.Lys286Ter,ENST00000600324,;STAP2,stop_gained,p.Lys241Ter,ENST00000601482,;STAP2,intron_variant,,ENST00000598443,;FSD1,downstream_gene_variant,,ENST00000597590,;FSD1,downstream_gene_variant,,ENST00000597480,;FSD1,downstream_gene_variant,,ENST00000601006,;FSD1,downstream_gene_variant,,ENST00000221856,;FSD1,downstream_gene_variant,,ENST00000594438,;STAP2,non_coding_transcript_exon_variant,,ENST00000597593,;STAP2,3_prime_UTR_variant,,ENST00000599736,;STAP2,non_coding_transcript_exon_variant,,ENST00000602007,;STAP2,non_coding_transcript_exon_variant,,ENST00000601179,;STAP2,intron_variant,,ENST00000596242,;FSD1,downstream_gene_variant,,ENST00000598179,;	924	39	59	SUCCESS
FPR1	2357	.	GRCh37	19	52249870	52249870	+	synonymous_variant	Silent	SNP	G	G	A	rs776424230	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	59	99	1	ENST00000304748.4:c.378C>T	p.Cys126=	p.C126=	ENST00000304748	NM_002029.3	126	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS12839.1	378	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGCAAAC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00526,Prints_domain:PR00237	.	.	ENSP00000471493	.	3/3	.	.	.	.	.	.	.	.	rs776424230,CM995226	3/3	PASS	ENST00000595042	Transcript	.	.	ENSG00000171051	3826	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	.	FPR1_HUMAN	FPR1	HGNC	M0R315_HUMAN,M0QZT0_HUMAN	.	UPI0000050484	SNV	FPR1,synonymous_variant,p.%3D,ENST00000600815,;FPR1,synonymous_variant,p.%3D,ENST00000304748,;FPR1,synonymous_variant,p.%3D,ENST00000595042,;FPR1,downstream_gene_variant,,ENST00000594900,;	520	101	130	SUCCESS
ZNF578	147660	.	GRCh37	19	53014421	53014421	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs199506035	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	91	227	0	ENST00000421239.2:c.787A>T	p.Ile263Leu	p.I263L	ENST00000421239	NM_001099694.1	263	Ata/Tta	0	T:0	.	.	.	.	T	I/L	protein_coding	YES	CCDS54310.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATATATGT	NONE	byCluster	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50157	.	T:0.0001	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	rs199506035	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.19)	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Ile263Leu,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	1031	227	221	SUCCESS
NLRP12	91662	.	GRCh37	19	54310876	54310876	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	49	95	0	ENST00000324134.6:c.2116G>C	p.Ala706Pro	p.A706P	ENST00000324134	NM_144687.3	706	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS12864.1	2116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCCAGAT	NONE	.	.	hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000319377	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	tolerated(0.12)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Ala706Pro,ENST00000535162,;NLRP12,missense_variant,p.Ala706Pro,ENST00000391775,;NLRP12,missense_variant,p.Ala706Pro,ENST00000354278,;NLRP12,missense_variant,p.Ala707Pro,ENST00000391773,;NLRP12,missense_variant,p.Ala706Pro,ENST00000324134,;NLRP12,missense_variant,p.Ala707Pro,ENST00000391772,;NLRP12,missense_variant,p.Ala707Pro,ENST00000345770,;NLRP12,missense_variant,p.Ala706Pro,ENST00000351894,;NLRP12,non_coding_transcript_exon_variant,,ENST00000492915,;	2285	95	115	SUCCESS
ZNF264	9422	.	GRCh37	19	57722830	57722830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	42	89	0	ENST00000263095.6:c.365A>T	p.Gln122Leu	p.Q122L	ENST00000263095	NM_003417.4	122	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33127.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAGTTGG	NONE	.	.	hmmpanther:PTHR24384:SF96,hmmpanther:PTHR24384	.	.	ENSP00000263095	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000263095	Transcript	.	.	ENSG00000083844	13057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.51)	.	ZN264_HUMAN	ZNF264	HGNC	M0QXF3_HUMAN	.	UPI000013C33B	SNV	ZNF264,missense_variant,p.Gln90Leu,ENST00000597447,;ZNF264,missense_variant,p.Gln122Leu,ENST00000263095,;ZNF264,missense_variant,p.Gln122Leu,ENST00000536056,;	779	90	113	SUCCESS
ZNF17	7565	.	GRCh37	19	57929405	57929405	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	120	0	ENST00000601808.1:c.141A>G		p.X47_splice	ENST00000601808	NM_006959.2	47	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	.	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTAGGTAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402:SF166,hmmpanther:PTHR24402,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000472277	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000596400	Transcript	.	.	ENSG00000269533	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC003002.6	Clone_based_vega_gene	M0R233_HUMAN	.	UPI0002A476BC	SNV	AC003002.6,synonymous_variant,p.%3D,ENST00000596400,;ZNF17,synonymous_variant,p.%3D,ENST00000307658,;ZNF17,synonymous_variant,p.%3D,ENST00000597350,;ZNF17,synonymous_variant,p.%3D,ENST00000601808,;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,intron_variant,,ENST00000595206,;ZNF17,intron_variant,,ENST00000599867,;ZNF17,intron_variant,,ENST00000595162,;ZNF17,upstream_gene_variant,,ENST00000602050,;	269	120	102	SUCCESS
MUC16	94025	.	GRCh37	19	9075725	9075725	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	67	109	0	ENST00000397910.4:c.11721G>A	p.Leu3907=	p.L3907=	ENST00000397910	NM_024690.2	3907	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54212.1	11721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATTCAGGGT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	11925	109	139	SUCCESS
OR7G3	390883	.	GRCh37	19	9236857	9236857	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	83	179	0	ENST00000305444.2:c.770G>T	p.Gly257Val	p.G257V	ENST00000305444	NM_001001958.1	257	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS32899.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCCAAAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF20,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000302867	.	1/1	.	.	.	.	.	.	.	.	COSM3543814	1/1	PASS	ENST00000305444	Transcript	.	.	ENSG00000170920	8467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.943)	.	deleterious(0.01)	1	OR7G3_HUMAN	OR7G3	HGNC	.	.	UPI0000041C0E	SNV	OR7G3,missense_variant,p.Gly257Val,ENST00000305444,;	770	179	170	SUCCESS
PTCHD2	0	.	GRCh37	1	11591031	11591031	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	62	0	ENST00000294484.6:c.3170A>T	p.Lys1057Met	p.K1057M	ENST00000294484	NM_020780.1	1057	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS41247.1	3170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAAGGCCA	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.622)	.	deleterious(0)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Lys1057Met,ENST00000389575,;PTCHD2,missense_variant,p.Lys1057Met,ENST00000294484,;PTCHD2,upstream_gene_variant,,ENST00000304391,;	3308	62	71	SUCCESS
PRAMEF17	391004	.	GRCh37	1	13718537	13718537	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	133	202	1	ENST00000376098.4:c.1000A>G	p.Thr334Ala	p.T334A	ENST00000376098	NM_001099851.1	334	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS41264.1	1000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGACCACC	NONE	.	.	Superfamily_domains:SSF52047,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224	.	.	ENSP00000365266	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376098	Transcript	.	.	ENSG00000204479	29485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.393)	.	tolerated(0.43)	.	PRA17_HUMAN	PRAMEF17	HGNC	.	.	UPI0000458AD3	SNV	PRAMEF17,missense_variant,p.Thr334Ala,ENST00000376098,;	1026	203	208	SUCCESS
PRAMEF20	645425	.	GRCh37	1	13743036	13743036	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	244	169	395	0	ENST00000316412.5:c.225A>T	p.Pro75=	p.P75=	ENST00000316412	NM_001099852.1	75	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41265.1	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAGAGAC	NONE	.	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF21,hmmpanther:PTHR14224	.	.	ENSP00000346275	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000316412	Transcript	.	.	ENSG00000204478	25224	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRA20_HUMAN	PRAMEF20	HGNC	.	.	UPI0000237232	SNV	PRAMEF20,synonymous_variant,p.%3D,ENST00000602960,;PRAMEF20,synonymous_variant,p.%3D,ENST00000316412,;	324	395	413	SUCCESS
PYGO2	90780	.	GRCh37	1	154931788	154931788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	111	116	0	ENST00000368457.2:c.688C>T	p.Pro230Ser	p.P230S	ENST00000368457	NM_138300.3	230	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1075.1	688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTCTCT	NONE	.	.	hmmpanther:PTHR23194:SF7,hmmpanther:PTHR23194	.	.	ENSP00000357442	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368457	Transcript	.	.	ENSG00000163348	30257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	tolerated(0.89)	.	PYGO2_HUMAN	PYGO2	HGNC	Q5T171_HUMAN,Q5T170_HUMAN	.	UPI00000015CD	SNV	PYGO2,missense_variant,p.Pro193Ser,ENST00000368456,;PYGO2,missense_variant,p.Pro230Ser,ENST00000368457,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000448116,;SHC1,downstream_gene_variant,,ENST00000368445,;PBXIP1,upstream_gene_variant,,ENST00000368460,;PBXIP1,upstream_gene_variant,,ENST00000539880,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000368453,;PBXIP1,upstream_gene_variant,,ENST00000368465,;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000368463,;SHC1,downstream_gene_variant,,ENST00000368450,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	860	116	195	SUCCESS
CLK2	1196	.	GRCh37	1	155239305	155239305	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	42	45	0	ENST00000368361.4:c.373A>T	p.Ser125Cys	p.S125C	ENST00000368361		125	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1107.1	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCTGCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF26	.	.	ENSP00000354856	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000361168	Transcript	.	.	ENSG00000176444	2069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.23)	.	CLK2_HUMAN	CLK2	HGNC	Q9BRG8_HUMAN,B7Z8N6_HUMAN	.	UPI0000169F47	SNV	CLK2,missense_variant,p.Ser125Cys,ENST00000361168,;CLK2,missense_variant,p.Ser125Cys,ENST00000536801,;CLK2,missense_variant,p.Ser124Cys,ENST00000355560,;CLK2,missense_variant,p.Ser125Cys,ENST00000368361,;CLK2,non_coding_transcript_exon_variant,,ENST00000484699,;CLK2,non_coding_transcript_exon_variant,,ENST00000476983,;CLK2,non_coding_transcript_exon_variant,,ENST00000471047,;CLK2,upstream_gene_variant,,ENST00000497188,;	460	45	69	SUCCESS
ARHGAP30	257106	.	GRCh37	1	161021132	161021132	+	synonymous_variant	Silent	SNP	A	A	T	rs144785706	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	61	0	ENST00000368013.3:c.1392T>A	p.Pro464=	p.P464=	ENST00000368013	NM_181720.2	464	ccT/ccA	0	G:0.0007	G:0.003	.	G:0	.	T	P	protein_coding	YES	CCDS30918.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCAGGGCC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15729	G:0	G:0	ENSP00000356992	G:0	10/12	.	.	.	.	.	.	.	.	rs144785706	10/12	PASS	ENST00000368013	Transcript	.	G:0.0008	ENSG00000186517	27414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	RHG30_HUMAN	ARHGAP30	HGNC	.	.	UPI0000160677	SNV	ARHGAP30,synonymous_variant,p.%3D,ENST00000368013,;ARHGAP30,synonymous_variant,p.%3D,ENST00000368016,;ARHGAP30,synonymous_variant,p.%3D,ENST00000368015,;ARHGAP30,3_prime_UTR_variant,,ENST00000490279,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;ARHGAP30,downstream_gene_variant,,ENST00000471492,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;	1713	61	96	SUCCESS
ZBTB17	7709	.	GRCh37	1	16271442	16271442	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	30	0	ENST00000375743.4:c.917A>G	p.His306Arg	p.H306R	ENST00000375743	NM_003443.2	306	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS165.1	917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGTGGATG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24402:SF165,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	.	.	ENSP00000364895	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000375743	Transcript	.	.	ENSG00000116809	12936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious(0.01)	.	ZBT17_HUMAN	ZBTB17	HGNC	.	.	UPI000013C9D2	SNV	ZBTB17,missense_variant,p.His306Arg,ENST00000375743,;ZBTB17,missense_variant,p.His243Arg,ENST00000448462,;ZBTB17,missense_variant,p.His306Arg,ENST00000375733,;ZBTB17,missense_variant,p.His224Arg,ENST00000537142,;SPEN,downstream_gene_variant,,ENST00000375759,;ZBTB17,upstream_gene_variant,,ENST00000444358,;ZBTB17,upstream_gene_variant,,ENST00000440560,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000492834,;ZBTB17,upstream_gene_variant,,ENST00000462525,;ZBTB17,upstream_gene_variant,,ENST00000474511,;ZBTB17,upstream_gene_variant,,ENST00000488008,;ZBTB17,upstream_gene_variant,,ENST00000472658,;ZBTB17,upstream_gene_variant,,ENST00000471805,;ZBTB17,downstream_gene_variant,,ENST00000479282,;ZBTB17,downstream_gene_variant,,ENST00000464719,;ZBTB17,downstream_gene_variant,,ENST00000490899,;ZBTB17,upstream_gene_variant,,ENST00000487785,;ZBTB17,downstream_gene_variant,,ENST00000494020,;	1150	30	31	SUCCESS
MROH9	80133	.	GRCh37	1	170967477	170967477	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	59	0	ENST00000367758.3:c.1658C>A	p.Ser553Ter	p.S553*	ENST00000367758	NM_025063.2	553	tCa/tAa	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53429.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATCAAAAT	NONE	.	.	.	.	.	ENSP00000356733	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367759	Transcript	.	.	ENSG00000117501	26287	.	.	MODIFIER	15/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MROH9_HUMAN	MROH9	HGNC	.	.	UPI0001B09232	SNV	MROH9,stop_gained,p.Ser553Ter,ENST00000367758,;MROH9,intron_variant,,ENST00000367759,;MROH9,intron_variant,,ENST00000426136,;	.	59	88	SUCCESS
TNN	63923	.	GRCh37	1	175053028	175053028	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	80	84	0	ENST00000239462.4:c.1191T>A	p.Thr397=	p.T397=	ENST00000239462	NM_022093.1	397	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30943.1	1191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACTGTGCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000239462	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,synonymous_variant,p.%3D,ENST00000239462,;	1304	84	131	SUCCESS
PADI4	23569	.	GRCh37	1	17690224	17690224	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	49	127	0	ENST00000375448.4:c.1966T>A	p.Phe656Ile	p.F656I	ENST00000375448	NM_012387.2	656	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS180.1	1966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTTCAAG	NONE	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF3,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364597	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000375448	Transcript	.	.	ENSG00000159339	18368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PADI4_HUMAN	PADI4	HGNC	Q6EVJ1_HUMAN	.	UPI000013DFF1	SNV	PADI4,missense_variant,p.Phe656Ile,ENST00000375448,;PADI4,downstream_gene_variant,,ENST00000467001,;	1992	127	120	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17942345	17942345	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	18	0	ENST00000361221.3:c.727-244A>T		p.*243*	ENST00000361221	NM_018125.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS182.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACATAGTC	NONE	.	.	.	.	.	ENSP00000355060	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODIFIER	8/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,intron_variant,,ENST00000375415,;ARHGEF10L,intron_variant,,ENST00000375420,;ARHGEF10L,intron_variant,,ENST00000361221,;ARHGEF10L,intron_variant,,ENST00000434513,;ARHGEF10L,intron_variant,,ENST00000452522,;ARHGEF10L,upstream_gene_variant,,ENST00000375408,;ARHGEF10L,upstream_gene_variant,,ENST00000167825,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	.	18	17	SUCCESS
PAX7	5081	.	GRCh37	1	19018334	19018334	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1372477155	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	50	145	0	ENST00000420770.2:c.673A>T	p.Thr225Ser	p.T225S	ENST00000420770	NM_001135254.1	225	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS186.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCACGGCC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF248,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000364524	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000375375	Transcript	.	.	ENSG00000009709	8621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.09)	.	PAX7_HUMAN	PAX7	HGNC	.	.	UPI000004A132	SNV	PAX7,missense_variant,p.Thr225Ser,ENST00000420770,;PAX7,missense_variant,p.Thr225Ser,ENST00000375375,;PAX7,missense_variant,p.Thr223Ser,ENST00000400661,;	1271	145	152	SUCCESS
KIF14	9928	.	GRCh37	1	200558393	200558393	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	64	81	0	ENST00000367350.4:c.3066A>G	p.Ile1022Met	p.I1022M	ENST00000367350	NM_014875.2	1022	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS30963.1	3066	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATATATTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115	.	.	ENSP00000356319	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.05)	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,missense_variant,p.Ile1022Met,ENST00000367350,;	3505	81	114	SUCCESS
SMYD2	56950	.	GRCh37	1	214504364	214504364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	142	0	ENST00000366957.5:c.888A>T	p.Arg296Ser	p.R296S	ENST00000366957	NM_020197.2	296	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31022.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGATATGC	NONE	.	.	hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF15	.	.	ENSP00000355924	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000366957	Transcript	.	.	ENSG00000143499	20982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.01)	.	SMYD2_HUMAN	SMYD2	HGNC	I6L9H7_HUMAN	.	UPI0000205E5F	SNV	SMYD2,missense_variant,p.Arg15Ser,ENST00000416415,;SMYD2,missense_variant,p.Arg296Ser,ENST00000366957,;SMYD2,intron_variant,,ENST00000415093,;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000484459,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;	910	142	165	SUCCESS
BAI2	0	.	GRCh37	1	32205547	32205547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	110	0	ENST00000373658.3:c.2147T>A	p.Leu716Gln	p.L716Q	ENST00000373658	NM_001703.2	716	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS346.2	2147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCAGAGAG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41,Pfam_domain:PF12003	.	.	ENSP00000362762	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,missense_variant,p.Leu716Gln,ENST00000373658,;BAI2,missense_variant,p.Leu649Gln,ENST00000398547,;BAI2,missense_variant,p.Leu654Gln,ENST00000420125,;BAI2,missense_variant,p.Leu649Gln,ENST00000398542,;BAI2,missense_variant,p.Leu716Gln,ENST00000373655,;BAI2,missense_variant,p.Leu358Gln,ENST00000440175,;BAI2,missense_variant,p.Leu704Gln,ENST00000398538,;BAI2,missense_variant,p.Leu716Gln,ENST00000527361,;BAI2,missense_variant,p.Leu716Gln,ENST00000257070,;BAI2,missense_variant,p.Leu664Gln,ENST00000398556,;BAI2,downstream_gene_variant,,ENST00000533175,;BAI2,non_coding_transcript_exon_variant,,ENST00000530134,;BAI2,downstream_gene_variant,,ENST00000473952,;BAI2,upstream_gene_variant,,ENST00000484002,;BAI2,upstream_gene_variant,,ENST00000465256,;BAI2,downstream_gene_variant,,ENST00000468430,;BAI2,upstream_gene_variant,,ENST00000466109,;BAI2,upstream_gene_variant,,ENST00000530999,;BAI2,upstream_gene_variant,,ENST00000525655,;	2489	110	104	SUCCESS
CSMD2	114784	.	GRCh37	1	33985196	33985196	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs747855239	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	50	69	0	ENST00000241312.4:c.10386C>T	p.Tyr3462=	p.Y3462=	ENST00000241312		3462	taC/taT	0	.	.	.	.	.	A	Y	nonsense_mediated_decay	YES	CCDS380.1	10386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCGTACAT	NONE	byFrequency	.	hmmpanther:PTHR19325:SF334,hmmpanther:PTHR19325	.	.	ENSP00000241312	.	69/70	.	.	.	.	.	.	.	.	rs747855239	69/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	10415	69	116	SUCCESS
DLGAP3	58512	.	GRCh37	1	35350577	35350577	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	71	1	ENST00000235180.4:c.2000+2T>A		p.X667_splice	ENST00000235180	NM_001080418.1	667		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30670.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTACCTCT	NONE	.	.	.	.	.	ENSP00000362444	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373347	Transcript	.	.	ENSG00000116544	30368	.	.	HIGH	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLGP3_HUMAN	DLGAP3	HGNC	B4DH33_HUMAN	.	UPI00003D4D81	SNV	DLGAP3,splice_donor_variant,,ENST00000373347,;DLGAP3,splice_donor_variant,,ENST00000235180,;	.	72	73	SUCCESS
SLC2A1	6513	.	GRCh37	1	43393339	43393339	+	synonymous_variant	Silent	SNP	G	G	A	rs769506294	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	81	167	0	ENST00000426263.3:c.1215C>T	p.Ala405=	p.A405=	ENST00000426263	NM_006516.2	405	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS477.1	1215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGGCAAT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF289,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000416293	.	9/10	.	.	.	.	.	.	.	.	rs769506294,COSM4008097	9/10	PASS	ENST00000426263	Transcript	.	.	ENSG00000117394	11005	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GTR1_HUMAN	SLC2A1	HGNC	Q59GX2_HUMAN,B3KVN0_HUMAN	.	UPI00002058B9	SNV	SLC2A1,synonymous_variant,p.%3D,ENST00000426263,;SLC2A1,downstream_gene_variant,,ENST00000439722,;SLC2A1,downstream_gene_variant,,ENST00000372500,;SLC2A1,downstream_gene_variant,,ENST00000415851,;SLC2A1,intron_variant,,ENST00000475162,;	1394	167	198	SUCCESS
CYP4B1	1580	.	GRCh37	1	47278257	47278257	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs539678720	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	38	108	0	ENST00000271153.4:c.457T>A	p.Tyr153Asn	p.Y153N	ENST00000271153		153	Tat/Aat	0	.	G:0	.	G:0	.	A	Y/N	protein_coding	YES	CCDS41328.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTATGTG	NONE	by1000G	.	hmmpanther:PTHR24290:SF43,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	G:0	.	ENSP00000360991	G:0	4/12	.	.	.	.	.	.	.	.	rs539678720	4/12	PASS	ENST00000371923	Transcript	.	G:0.0002	ENSG00000142973	2644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	G:0.001	deleterious(0)	.	CP4B1_HUMAN	CYP4B1	HGNC	F5H1Q8_HUMAN,E7EME6_HUMAN	.	UPI0000073C54	SNV	CYP4B1,missense_variant,p.Tyr153Asn,ENST00000371923,;CYP4B1,missense_variant,p.Tyr153Asn,ENST00000271153,;CYP4B1,missense_variant,p.Tyr138Asn,ENST00000371919,;CYP4B1,5_prime_UTR_variant,,ENST00000468637,;CYP4B1,5_prime_UTR_variant,,ENST00000526297,;CYP4B1,5_prime_UTR_variant,,ENST00000452782,;CYP4B1,downstream_gene_variant,,ENST00000546128,;CYP4B1,upstream_gene_variant,,ENST00000497005,;CYP4B1,missense_variant,p.Tyr153Asn,ENST00000464439,;CYP4B1,3_prime_UTR_variant,,ENST00000529715,;CYP4B1,3_prime_UTR_variant,,ENST00000534708,;CYP4B1,upstream_gene_variant,,ENST00000481248,;	493	108	117	SUCCESS
C20orf112	0	.	GRCh37	20	31041485	31041485	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369527139	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	75	1	ENST00000359676.5:c.467G>A	p.Arg156Gln	p.R156Q	ENST00000359676	NM_080616.4	156	cGg/cAg	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13202.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGGCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12449:SF16,hmmpanther:PTHR12449	.	T:0	ENSP00000352704	.	4/8	.	.	.	.	.	.	.	.	rs369527139	4/8	PASS	ENST00000359676	Transcript	.	.	ENSG00000197183	16106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	CT112_HUMAN	C20orf112	HGNC	.	.	UPI0000128600	SNV	C20orf112,missense_variant,p.Arg156Gln,ENST00000359676,;RP5-1184F4.5,downstream_gene_variant,,ENST00000442179,;C20orf112,non_coding_transcript_exon_variant,,ENST00000475781,;	610	76	91	SUCCESS
SRC	6714	.	GRCh37	20	36014520	36014520	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	45	74	0	ENST00000358208.4:c.293G>T	p.Arg98Met	p.R98M	ENST00000358208		98	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS13294.1	293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTAGGACGG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000362680	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000373578	Transcript	.	.	ENSG00000197122	11283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.08)	.	SRC_HUMAN	SRC	HGNC	Q9H7V3_HUMAN,Q71UK5_HUMAN	.	UPI0000000CB3	SNV	SRC,missense_variant,p.Arg98Met,ENST00000358208,;SRC,missense_variant,p.Arg98Met,ENST00000373558,;SRC,missense_variant,p.Arg98Met,ENST00000373567,;SRC,missense_variant,p.Arg98Met,ENST00000373578,;SRC,missense_variant,p.Arg98Met,ENST00000445403,;SRC,missense_variant,p.Arg98Met,ENST00000360723,;SRC,non_coding_transcript_exon_variant,,ENST00000472968,;SRC,downstream_gene_variant,,ENST00000497734,;	642	74	101	SUCCESS
PTPRT	11122	.	GRCh37	20	41419871	41419871	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777874827	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	72	148	0	ENST00000373198.4:c.450G>T	p.Glu150Asp	p.E150D	ENST00000373198	NM_133170.3	150	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS42874.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGCTCTGC	BUFFER|p.L151L|c.453C>T|3	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000362283	.	3/31	.	.	.	.	.	.	.	.	rs777874827	3/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Glu150Asp,ENST00000373201,;PTPRT,missense_variant,p.Glu150Asp,ENST00000356100,;PTPRT,missense_variant,p.Glu150Asp,ENST00000373198,;PTPRT,missense_variant,p.Glu150Asp,ENST00000373193,;PTPRT,missense_variant,p.Glu150Asp,ENST00000373184,;PTPRT,missense_variant,p.Glu150Asp,ENST00000373190,;PTPRT,missense_variant,p.Glu150Asp,ENST00000373187,;	450	148	163	SUCCESS
TPTE	7179	.	GRCh37	21	10916467	10916467	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs772490863	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	407	42	479	1	ENST00000361285.4:c.1179T>A	p.Tyr393Ter	p.Y393*	ENST00000361285	NM_199261.2	393	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS13560.2	1179	MUTECT|MUSE|VARSCANS	.	GCAACATATCT	NONE	.	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000355208	.	20/24	.	.	.	.	.	.	.	.	rs772490863	20/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,stop_gained,p.Tyr393Ter,ENST00000361285,;TPTE,stop_gained,p.Tyr355Ter,ENST00000342420,;TPTE,stop_gained,p.Tyr375Ter,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;TPTE,intron_variant,,ENST00000415664,;	1509	480	449	SUCCESS
TPTE	7179	.	GRCh37	21	10969094	10969094	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	86	0	ENST00000361285.4:c.154G>A	p.Val52Met	p.V52M	ENST00000361285	NM_199261.2	52	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS13560.2	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACACCCGGG	NONE	.	.	.	.	.	ENSP00000355208	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.11)	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Val52Met,ENST00000361285,;TPTE,missense_variant,p.Val34Met,ENST00000328758,;TPTE,intron_variant,,ENST00000342420,;TPTE,intron_variant,,ENST00000298232,;TPTE,intron_variant,,ENST00000415664,;TPTE,intron_variant,,ENST00000447568,;	484	86	107	SUCCESS
GRIK1	2897	.	GRCh37	21	30927428	30927428	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	34	67	0	ENST00000399907.1:c.2552T>A	p.Phe851Tyr	p.F851Y	ENST00000399907	NM_000830.3	851	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS42913.1	2552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAAATACA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36	.	.	ENSP00000382791	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000399907	Transcript	.	.	ENSG00000171189	4579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	deleterious(0.01)	.	GRIK1_HUMAN	GRIK1	HGNC	Q9UNN1_HUMAN,Q71UA3_HUMAN	.	UPI000012B612	SNV	GRIK1,missense_variant,p.Phe851Tyr,ENST00000327783,;GRIK1,missense_variant,p.Phe851Tyr,ENST00000389124,;GRIK1,missense_variant,p.Phe836Tyr,ENST00000399914,;GRIK1,missense_variant,p.Phe853Tyr,ENST00000535441,;GRIK1,missense_variant,p.Phe851Tyr,ENST00000399907,;GRIK1,missense_variant,p.Phe836Tyr,ENST00000399909,;GRIK1,missense_variant,p.Phe851Tyr,ENST00000399913,;GRIK1,missense_variant,p.Phe853Tyr,ENST00000309434,;GRIK1,missense_variant,p.Phe836Tyr,ENST00000389125,;BACH1,intron_variant,,ENST00000468059,;BACH1,intron_variant,,ENST00000422809,;	2964	67	71	SUCCESS
TSPEAR	54084	.	GRCh37	21	46021510	46021510	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	55	0	ENST00000323084.4:c.83-33621A>T		p.*28*	ENST00000323084	NM_001272037.1	330		0	.	.	.	.	.	A	V/D	protein_coding	YES	.	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGTCCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF40,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000369445	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380102	Transcript	.	.	ENSG00000205441	22970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	KR107_HUMAN	KRTAP10-7	HGNC	.	.	UPI000036709B	SNV	KRTAP10-7,missense_variant,p.Val330Asp,ENST00000380102,;TSPEAR,intron_variant,,ENST00000323084,;AL773602.1,non_coding_transcript_exon_variant,,ENST00000339001,;	1014	55	71	SUCCESS
GGT3P	2679	.	GRCh37	22	18767026	18767026	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	35	191	0	ENST00000412448.1:n.1212A>T		p.*404*	ENST00000412448				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTTCAGGT	NONE	.	.	.	.	.	.	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000412448	Transcript	.	.	ENSG00000197421	4252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GGT3P	HGNC	.	.	.	SNV	GGT3P,non_coding_transcript_exon_variant,,ENST00000412448,;GGT3P,non_coding_transcript_exon_variant,,ENST00000453783,;	1212	191	200	SUCCESS
TOP3B	8940	.	GRCh37	22	22322015	22322015	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	51	0	ENST00000357179.5:c.812A>G	p.Gln271Arg	p.Q271R	ENST00000357179	NM_001282113.1	271	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS13797.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTGTGCG	NONE	.	.	Superfamily_domains:SSF56712,Gene3D:2.70.20.10,Pfam_domain:PF01131,hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF20	.	.	ENSP00000381773	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000398793	Transcript	.	.	ENSG00000100038	11993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.65)	.	TOP3B_HUMAN	TOP3B	HGNC	C9JTQ7_HUMAN,C9JT00_HUMAN,C9JKE2_HUMAN,C9JHR0_HUMAN,C9JEQ1_HUMAN,C9JEI7_HUMAN,C9J9X4_HUMAN	.	UPI00001371A1	SNV	TOP3B,missense_variant,p.Gln271Arg,ENST00000357179,;TOP3B,missense_variant,p.Gln271Arg,ENST00000398793,;TOP3B,missense_variant,p.Gln66Arg,ENST00000457270,;TOP3B,5_prime_UTR_variant,,ENST00000413067,;TOP3B,downstream_gene_variant,,ENST00000437929,;TOP3B,downstream_gene_variant,,ENST00000424393,;TOP3B,downstream_gene_variant,,ENST00000430142,;TOP3B,missense_variant,p.Gln3Arg,ENST00000436282,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,downstream_gene_variant,,ENST00000487485,;TOP3B,upstream_gene_variant,,ENST00000470338,;TOP3B,downstream_gene_variant,,ENST00000489581,;	1247	51	64	SUCCESS
ENTHD1	150350	.	GRCh37	22	40283506	40283506	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	51	97	0	ENST00000325157.6:c.247A>T	p.Lys83Ter	p.K83*	ENST00000325157	NM_152512.3	83	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS13998.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTTGATGA	NONE	.	.	PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51,Pfam_domain:PF01417,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464	.	.	ENSP00000317431	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000325157	Transcript	.	.	ENSG00000176177	26352	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTD1_HUMAN	ENTHD1	HGNC	.	.	UPI00000741D2	SNV	ENTHD1,stop_gained,p.Lys83Ter,ENST00000325157,;	498	97	109	SUCCESS
SH3RF3	344558	.	GRCh37	2	110053394	110053394	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	74	142	1	ENST00000309415.6:c.1620A>T	p.Gly540=	p.G540=	ENST00000309415	NM_001099289.1	540	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	.	1620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGAGGGTC	NONE	.	.	hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Superfamily_domains:SSF50044	.	.	ENSP00000309186	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,synonymous_variant,p.%3D,ENST00000309415,;SH3RF3,synonymous_variant,p.%3D,ENST00000418513,;	1620	143	161	SUCCESS
DDX18	8886	.	GRCh37	2	118577227	118577227	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs375147442	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	302	184	539	0	ENST00000263239.2:c.373A>T	p.Thr125Ser	p.T125S	ENST00000263239	NM_006773.3	125	Acg/Tcg	0	G:0	.	.	.	.	T	T/S	protein_coding	YES	CCDS2120.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATACGAAA	NONE	byCluster	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF171	.	G:0.0001	ENSP00000263239	.	3/14	.	.	.	.	.	.	.	.	rs375147442	3/14	PASS	ENST00000263239	Transcript	.	.	ENSG00000088205	2741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.46)	.	DDX18_HUMAN	DDX18	HGNC	Q53TI6_HUMAN,Q4ZG72_HUMAN	.	UPI000012907E	SNV	DDX18,missense_variant,p.Thr125Ser,ENST00000263239,;DDX18,upstream_gene_variant,,ENST00000415038,;DDX18,splice_region_variant,,ENST00000474694,;DDX18,upstream_gene_variant,,ENST00000489933,;DDX18,upstream_gene_variant,,ENST00000476149,;	501	539	487	SUCCESS
MMADHC	27249	.	GRCh37	2	150435994	150435994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	7	143	0	ENST00000303319.5:c.323C>T	p.Ser108Leu	p.S108L	ENST00000303319	NM_015702.2	108	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS2189.1	323	MUTECT|MUSE	.	CACTTGATAAA	NONE	.	.	hmmpanther:PTHR13192,Pfam_domain:PF10229	.	.	ENSP00000389060	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000428879	Transcript	.	.	ENSG00000168288	25221	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.41)	.	deleterious(0.04)	.	MMAD_HUMAN	MMADHC	HGNC	.	.	UPI0000073FE2	SNV	MMADHC,missense_variant,p.Ser108Leu,ENST00000422782,;MMADHC,missense_variant,p.Ser108Leu,ENST00000303319,;MMADHC,missense_variant,p.Ser108Leu,ENST00000428879,;	828	143	161	SUCCESS
KCNH7	90134	.	GRCh37	2	163292032	163292032	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	93	0	ENST00000332142.5:c.1630T>A	p.Tyr544Asn	p.Y544N	ENST00000332142	NM_033272.3	544	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS2219.1	1630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATATCGAT	NONE	.	.	hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000331727	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000332142	Transcript	.	.	ENSG00000184611	18863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KCNH7_HUMAN	KCNH7	HGNC	.	.	UPI0000167D11	SNV	KCNH7,missense_variant,p.Tyr544Asn,ENST00000332142,;KCNH7,missense_variant,p.Tyr537Asn,ENST00000328032,;	1730	93	83	SUCCESS
PXDN	7837	.	GRCh37	2	1652300	1652300	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	64	0	ENST00000252804.4:c.3252G>A	p.Leu1084=	p.L1084=	ENST00000252804	NM_012293.1	1084	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46221.1	3252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCCAGCCG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000252804	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,synonymous_variant,p.%3D,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;	3303	64	68	SUCCESS
DYNC1I2	1781	.	GRCh37	2	172563798	172563799	+	inframe_insertion,splice_region_variant	In_Frame_Ins	INS	-	-	CCT	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	159	79	249	0	ENST00000397119.3:c.253_255dup	p.Pro85dup	p.P85dup	ENST00000397119	NM_001378.2	85	-/CCT	0	.	.	.	.	.	CCT	-/P	protein_coding	YES	CCDS46450.1	246-247	INDELOCATOR|VARSCANI	.	TTAGTCCCTCC	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF36	.	.	ENSP00000380308	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000397119	Transcript	.	.	ENSG00000077380	2964	9	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DC1I2_HUMAN	DYNC1I2	HGNC	Q53SA6_HUMAN,E7ERR6_HUMAN	.	UPI0000129A05	insertion	DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000508530,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000340296,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000409197,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000435234,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000425485,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000452242,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000412370,;DYNC1I2,inframe_insertion,p.Pro85dup,ENST00000397119,;DYNC1I2,inframe_insertion,p.Pro85dup,ENST00000409453,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000430778,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000411953,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000456808,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000263811,;DYNC1I2,inframe_insertion,p.Pro85dup,ENST00000443458,;DYNC1I2,inframe_insertion,p.Pro85dup,ENST00000534253,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000358002,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000438879,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000409317,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000423910,;DYNC1I2,inframe_insertion,p.Pro79dup,ENST00000422646,;DYNC1I2,inframe_insertion,p.Pro97dup,ENST00000410079,;DYNC1I2,inframe_insertion,p.Pro85dup,ENST00000409773,;AC068039.1,intron_variant,,ENST00000598148,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000482454,;DYNC1I2,intron_variant,,ENST00000445378,;	413-414	249	238	SUCCESS
PLCL1	5334	.	GRCh37	2	198950034	198950034	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	54	112	0	ENST00000428675.1:c.1793G>A	p.Arg598Lys	p.R598K	ENST00000428675	NM_006226.3	598	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS2326.2	1793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGGGATT	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,Superfamily_domains:SSF51695	.	.	ENSP00000402861	.	2/6	.	.	.	.	.	.	.	.	COSM1631709,COSM1631708	2/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.006)	.	tolerated(1)	1,1	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,missense_variant,p.Arg524Lys,ENST00000487695,;PLCL1,missense_variant,p.Arg598Lys,ENST00000428675,;PLCL1,missense_variant,p.Arg500Lys,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	2191	112	120	SUCCESS
ZNF142	7701	.	GRCh37	2	219513536	219513536	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	118	0	ENST00000411696.2:c.1095C>A	p.Gly365=	p.G365=	ENST00000411696		365	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42817.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGCCCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000398798	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000411696	Transcript	.	.	ENSG00000115568	12927	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN142_HUMAN	ZNF142	HGNC	C9J055_HUMAN	.	UPI000013D5FC	SNV	ZNF142,synonymous_variant,p.%3D,ENST00000411696,;ZNF142,synonymous_variant,p.%3D,ENST00000449707,;ZNF142,downstream_gene_variant,,ENST00000440934,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;	1875	118	108	SUCCESS
GIGYF2	26058	.	GRCh37	2	233709080	233709080	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	44	105	0	ENST00000373563.4:c.3101del	p.His1034LeufsTer16	p.H1034Lfs*16	ENST00000373563	NM_001103146.1	1034	cAt/ct	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS46542.1	3164	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAGCATTCCA	NONE	.	.	hmmpanther:PTHR14445:SF38,hmmpanther:PTHR14445	.	.	ENSP00000387170	.	27/31	.	.	.	.	.	.	.	.	CM096344	27/31	PASS	ENST00000409451	Transcript	.	.	ENSG00000204120	11960	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	.	PERQ2_HUMAN	GIGYF2	HGNC	C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN	.	UPI00003FEC8F	deletion	GIGYF2,frameshift_variant,p.His1034LeufsTer16,ENST00000373563,;GIGYF2,frameshift_variant,p.His1034LeufsTer16,ENST00000409547,;GIGYF2,frameshift_variant,p.His1056LeufsTer16,ENST00000373566,;GIGYF2,frameshift_variant,p.His1056LeufsTer16,ENST00000409480,;GIGYF2,frameshift_variant,p.His1028LeufsTer16,ENST00000409196,;GIGYF2,frameshift_variant,p.His63LeufsTer16,ENST00000426102,;GIGYF2,frameshift_variant,p.His1055LeufsTer16,ENST00000409451,;GIGYF2,splice_region_variant,,ENST00000452341,;GIGYF2,downstream_gene_variant,,ENST00000469843,;GIGYF2,splice_region_variant,,ENST00000471011,;GIGYF2,splice_region_variant,,ENST00000474312,;	3390	105	150	SUCCESS
DNAJC27	51277	.	GRCh37	2	25179973	25179973	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	45	108	0	ENST00000264711.2:c.467A>C	p.Lys156Thr	p.K156T	ENST00000264711	NM_016544.2	156	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS1716.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTTTGCTT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF269,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540	.	.	ENSP00000264711	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000264711	Transcript	.	.	ENSG00000115137	30290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	deleterious(0.03)	.	DJC27_HUMAN	DNAJC27	HGNC	Q53T53_HUMAN,Q53T06_HUMAN,F5GY94_HUMAN	.	UPI000006F258	SNV	DNAJC27,missense_variant,p.Lys85Thr,ENST00000534855,;DNAJC27,missense_variant,p.Lys156Thr,ENST00000264711,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000494239,;DNAJC27,downstream_gene_variant,,ENST00000468750,;DNAJC27,downstream_gene_variant,,ENST00000468467,;DNAJC27,3_prime_UTR_variant,,ENST00000380809,;	657	108	115	SUCCESS
C2orf70	0	.	GRCh37	2	26798930	26798930	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	111	0	ENST00000329615.3:c.236del	p.Asn79ThrfsTer4	p.N79Tfs*4	ENST00000329615	NM_001105519.1	79	Aac/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS42661.1	235	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCCCAACCTC	NONE	.	.	Pfam_domain:PF10629	.	.	ENSP00000332875	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000329615	Transcript	.	.	ENSG00000173557	27938	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CB070_HUMAN	C2orf70	HGNC	.	.	UPI00001AFA74	deletion	C2orf70,frameshift_variant,p.Gln66HisfsTer124,ENST00000409392,;C2orf70,frameshift_variant,p.Asn79ThrfsTer4,ENST00000329615,;C2orf70,upstream_gene_variant,,ENST00000453368,;C2orf70,non_coding_transcript_exon_variant,,ENST00000479453,;	266	111	137	SUCCESS
ALK	238	.	GRCh37	2	29473975	29473975	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	52	0	ENST00000389048.3:c.2200T>A	p.Tyr734Asn	p.Y734N	ENST00000389048	NM_004304.4	734	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS33172.1	2200	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTAGGTGT	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276,Pfam_domain:PF12810	.	.	ENSP00000373700	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Tyr734Asn,ENST00000389048,;ALK,intron_variant,,ENST00000431873,;	3107	52	70	SUCCESS
UGP2	7360	.	GRCh37	2	64085046	64085046	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	11	173	0	ENST00000337130.5:c.231A>G	p.Lys77=	p.K77=	ENST00000337130	NM_006759.3	77	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS1875.1	231	MUTECT|MUSE	.	GGAAAAATCCA	NONE	.	.	Superfamily_domains:SSF53448,PIRSF_domain:PIRSF000806,Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952:SF1,hmmpanther:PTHR11952	.	.	ENSP00000338703	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000337130	Transcript	.	.	ENSG00000169764	12527	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UGPA_HUMAN	UGP2	HGNC	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN	.	UPI000000DB95	SNV	UGP2,synonymous_variant,p.%3D,ENST00000491621,;UGP2,synonymous_variant,p.%3D,ENST00000394417,;UGP2,synonymous_variant,p.%3D,ENST00000488245,;UGP2,synonymous_variant,p.%3D,ENST00000475462,;UGP2,synonymous_variant,p.%3D,ENST00000445915,;UGP2,synonymous_variant,p.%3D,ENST00000337130,;UGP2,synonymous_variant,p.%3D,ENST00000472047,;UGP2,synonymous_variant,p.%3D,ENST00000482668,;UGP2,synonymous_variant,p.%3D,ENST00000467648,;UGP2,synonymous_variant,p.%3D,ENST00000497883,;UGP2,downstream_gene_variant,,ENST00000484142,;UGP2,downstream_gene_variant,,ENST00000480679,;UGP2,non_coding_transcript_exon_variant,,ENST00000495020,;UGP2,intron_variant,,ENST00000487469,;UGP2,downstream_gene_variant,,ENST00000484056,;UGP2,synonymous_variant,p.%3D,ENST00000497510,;UGP2,synonymous_variant,p.%3D,ENST00000467400,;UGP2,3_prime_UTR_variant,,ENST00000487640,;UGP2,3_prime_UTR_variant,,ENST00000467999,;UGP2,3_prime_UTR_variant,,ENST00000483108,;UGP2,3_prime_UTR_variant,,ENST00000493222,;UGP2,3_prime_UTR_variant,,ENST00000466642,;UGP2,3_prime_UTR_variant,,ENST00000496334,;UGP2,3_prime_UTR_variant,,ENST00000487042,;UGP2,non_coding_transcript_exon_variant,,ENST00000494536,;UGP2,non_coding_transcript_exon_variant,,ENST00000465515,;UGP2,intron_variant,,ENST00000475550,;UGP2,intron_variant,,ENST00000483461,;	707	174	195	SUCCESS
MXD1	4084	.	GRCh37	2	70142270	70142270	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	30	0	ENST00000264444.2:c.-193G>T		p.*65*	ENST00000264444	NM_001202513.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1896.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGGCGGTG	NONE	.	.	.	.	.	ENSP00000264444	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000264444	Transcript	.	.	ENSG00000059728	6761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAD1_HUMAN	MXD1	HGNC	C9JBE8_HUMAN,B7ZLI7_HUMAN	.	UPI0000035C7D	SNV	MXD1,5_prime_UTR_variant,,ENST00000264444,;MXD1,intron_variant,,ENST00000435990,;MXD1,upstream_gene_variant,,ENST00000540449,;snoU13,downstream_gene_variant,,ENST00000458983,;MXD1,5_prime_UTR_variant,,ENST00000409442,;MXD1,non_coding_transcript_exon_variant,,ENST00000410000,;	68	30	36	SUCCESS
TMEM131	23505	.	GRCh37	2	98543941	98543941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	476	327	834	0	ENST00000186436.5:c.197A>T	p.Gln66Leu	p.Q66L	ENST00000186436	NM_015348.1	66	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS46368.1	197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACTGAACG	NONE	.	.	hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1	.	.	ENSP00000186436	.	2/41	.	.	.	.	.	.	.	.	.	2/41	PASS	ENST00000186436	Transcript	.	.	ENSG00000075568	30366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	TM131_HUMAN	TMEM131	HGNC	C9J6W0_HUMAN	.	UPI00006C0498	SNV	TMEM131,missense_variant,p.Gln17Leu,ENST00000425805,;TMEM131,missense_variant,p.Gln66Leu,ENST00000186436,;TMEM131,missense_variant,p.Gln27Leu,ENST00000418629,;TMEM131,non_coding_transcript_exon_variant,,ENST00000489507,;	426	834	803	SUCCESS
ZBED2	79413	.	GRCh37	3	111313409	111313409	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	33	113	0	ENST00000317012.4:c.-361A>T		p.*121*	ENST00000317012	NM_024508.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2960.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATCAACC	NONE	.	.	.	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	SNV	ZBED2,5_prime_UTR_variant,,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	649	113	113	SUCCESS
WDR52	0	.	GRCh37	3	113120468	113120468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	76	162	0	ENST00000295868.2:c.1289A>T	p.Lys430Ile	p.K430I	ENST00000295868	NM_018338.3	430	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS54624.1	1289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTTTATC	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18	.	.	ENSP00000377428	.	10/35	.	.	.	.	.	.	.	.	.	10/35	PASS	ENST00000393845	Transcript	.	.	ENSG00000206530	25631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	WDR52_HUMAN	WDR52	HGNC	C9K0A4_HUMAN	.	UPI0000367198	SNV	WDR52,missense_variant,p.Lys430Ile,ENST00000393845,;WDR52,missense_variant,p.Lys430Ile,ENST00000295868,;WDR52-AS1,upstream_gene_variant,,ENST00000473329,;WDR52-AS1,upstream_gene_variant,,ENST00000498480,;WDR52,upstream_gene_variant,,ENST00000475568,;WDR52,3_prime_UTR_variant,,ENST00000488854,;WDR52,intron_variant,,ENST00000465186,;WDR52,downstream_gene_variant,,ENST00000489938,;	1356	162	178	SUCCESS
ZBTB38	253461	.	GRCh37	3	141163168	141163168	+	synonymous_variant	Silent	SNP	T	T	C	rs758578318	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	86	0	ENST00000321464.5:c.1941T>C	p.Asn647=	p.N647=	ENST00000321464		647	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS43157.1	1938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATGTACA	NONE	byFrequency	.	hmmpanther:PTHR24397:SF23,hmmpanther:PTHR24397	.	.	ENSP00000426387	.	4/4	.	.	.	.	.	.	.	.	rs758578318	4/4	PASS	ENST00000514251	Transcript	.	.	ENSG00000177311	26636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT38_HUMAN	ZBTB38	HGNC	Q9H6F0_HUMAN,D6RJE1_HUMAN,D6RHD1_HUMAN,D6RGK1_HUMAN,D6RE69_HUMAN,D6RC86_HUMAN,D6RBC4_HUMAN,D6RAC4_HUMAN,D6R9U6_HUMAN,D6R9J6_HUMAN,D6R9I1_HUMAN,B3KST1_HUMAN	.	UPI000020A364	SNV	ZBTB38,synonymous_variant,p.%3D,ENST00000441582,;ZBTB38,synonymous_variant,p.%3D,ENST00000321464,;ZBTB38,synonymous_variant,p.%3D,ENST00000509883,;ZBTB38,synonymous_variant,p.%3D,ENST00000514251,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000509842,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	2217	86	67	SUCCESS
C3orf58	0	.	GRCh37	3	143691622	143691622	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	51	1	ENST00000315691.3:c.448A>G	p.Asn150Asp	p.N150D	ENST00000315691	NM_173552.3	150	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3130.1	448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCAACGGC	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6	.	.	ENSP00000320081	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.61)	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,missense_variant,p.Asn150Asp,ENST00000315691,;C3orf58,upstream_gene_variant,,ENST00000492452,;C3orf58,upstream_gene_variant,,ENST00000495414,;C3orf58,upstream_gene_variant,,ENST00000441925,;C3orf58,non_coding_transcript_exon_variant,,ENST00000493396,;C3orf58,non_coding_transcript_exon_variant,,ENST00000491798,;C3orf58,upstream_gene_variant,,ENST00000483808,;	983	52	64	SUCCESS
C3orf58	0	.	GRCh37	3	143704424	143704424	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	61	156	0	ENST00000315691.3:c.697C>G	p.Leu233Val	p.L233V	ENST00000315691	NM_173552.3	233	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3130.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATCTTGGA	NONE	.	.	hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6,Pfam_domain:PF12260	.	.	ENSP00000320081	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.406)	.	deleterious(0.05)	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,missense_variant,p.Leu39Val,ENST00000492452,;C3orf58,missense_variant,p.Leu233Val,ENST00000315691,;C3orf58,missense_variant,p.Leu24Val,ENST00000495414,;C3orf58,5_prime_UTR_variant,,ENST00000441925,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,non_coding_transcript_exon_variant,,ENST00000483808,;	1232	156	177	SUCCESS
NR2C2	7182	.	GRCh37	3	15084400	15084400	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	100	210	0	ENST00000393102.3:c.1676A>G	p.Glu559Gly	p.E559G	ENST00000393102		559	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS2621.1	1733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGAAGAAC	BUFFER|p.F582fs*10|c.1739delT|4	.	.	hmmpanther:PTHR24083:SF48,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Pfam_domain:PF00104,Superfamily_domains:SSF48508,Prints_domain:PR00398	.	.	ENSP00000320447	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000323373	Transcript	.	.	ENSG00000177463	7972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NR2C2_HUMAN	NR2C2	HGNC	F2YGU2_HUMAN,C9J2Y1_HUMAN	.	UPI00001AF3B4	SNV	NR2C2,missense_variant,p.Glu559Gly,ENST00000406272,;NR2C2,missense_variant,p.Glu578Gly,ENST00000323373,;NR2C2,missense_variant,p.Glu559Gly,ENST00000393102,;NR2C2,missense_variant,p.Glu559Gly,ENST00000425241,;NR2C2,intron_variant,,ENST00000439011,;NR2C2,intron_variant,,ENST00000413194,;MRPS25,non_coding_transcript_exon_variant,,ENST00000496484,;NR2C2,non_coding_transcript_exon_variant,,ENST00000478572,;MRPS25,downstream_gene_variant,,ENST00000474866,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;NR2C2,downstream_gene_variant,,ENST00000495282,;	1950	210	213	SUCCESS
CCDC39	339829	.	GRCh37	3	180378364	180378364	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	114	0	ENST00000442201.2:c.510A>C	p.Lys170Asn	p.K170N	ENST00000442201	NM_181426.1	170	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS46964.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATTTTATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,missense_variant,p.Lys254Asn,ENST00000273654,;CCDC39,missense_variant,p.Lys170Asn,ENST00000442201,;CCDC39,downstream_gene_variant,,ENST00000471307,;CCDC39,missense_variant,p.Lys170Asn,ENST00000476379,;	630	114	95	SUCCESS
ADIPOQ	9370	.	GRCh37	3	186572279	186572279	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	68	125	0	ENST00000320741.2:c.521G>A	p.Ser174Asn	p.S174N	ENST00000320741	NM_004797.3	174	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS3284.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGCCTCT	NONE	.	.	Superfamily_domains:SSF49842,SMART_domains:SM00110,Gene3D:2.60.120.40,Pfam_domain:PF00386,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF81,PROSITE_profiles:PS50871	.	.	ENSP00000405611	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000412955	Transcript	.	.	ENSG00000181092	13633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0)	.	ADIPO_HUMAN	ADIPOQ	HGNC	A8K660_HUMAN	.	UPI0000034252	SNV	ADIPOQ,missense_variant,p.Ser174Asn,ENST00000412955,;ADIPOQ,missense_variant,p.Ser174Asn,ENST00000444204,;ADIPOQ,missense_variant,p.Ser174Asn,ENST00000320741,;ADIPOQ-AS1,non_coding_transcript_exon_variant,,ENST00000422718,;	662	125	146	SUCCESS
TMEM44	93109	.	GRCh37	3	194349215	194349215	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	28	87	0	ENST00000392432.2:c.161A>T	p.Gln54Leu	p.Q54L	ENST00000392432	NM_001166305.1	54	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS54699.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTGTGCA	NONE	.	.	hmmpanther:PTHR16201:SF33,hmmpanther:PTHR16201	.	.	ENSP00000376227	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000392432	Transcript	.	.	ENSG00000145014	25120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	deleterious(0.02)	.	TMM44_HUMAN	TMEM44	HGNC	Q96I73_HUMAN	.	UPI00015E0940	SNV	TMEM44,missense_variant,p.Gln54Leu,ENST00000473092,;TMEM44,missense_variant,p.Gln54Leu,ENST00000381975,;TMEM44,missense_variant,p.Gln54Leu,ENST00000392432,;TMEM44,missense_variant,p.Gln54Leu,ENST00000347147,;TMEM44,missense_variant,p.Gln54Leu,ENST00000273580,;TMEM44,5_prime_UTR_variant,,ENST00000330115,;TMEM44,upstream_gene_variant,,ENST00000452358,;AC046143.3,upstream_gene_variant,,ENST00000447139,;TMEM44,non_coding_transcript_exon_variant,,ENST00000494894,;TMEM44,missense_variant,p.Gln54Leu,ENST00000430601,;TMEM44,5_prime_UTR_variant,,ENST00000419280,;	367	87	75	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	89	176	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	177	180	SUCCESS
MST1	4485	.	GRCh37	3	49721754	49721754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	68	167	0	ENST00000449682.2:c.2009C>T	p.Ala670Val	p.A670V	ENST00000449682	NM_020998.3	670	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33757.2	2009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGCCCCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF43,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001152,SMART_domains:SM00020,PIRSF_domain:PIRSF500185,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000414287	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000449682	Transcript	.	.	ENSG00000173531	7380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.16)	.	.	MST1	HGNC	G3XAK1_HUMAN	.	UPI0000EE2A31	SNV	MST1,missense_variant,p.Ala670Val,ENST00000449682,;MST1,missense_variant,p.Ala140Val,ENST00000448220,;APEH,downstream_gene_variant,,ENST00000296456,;MST1,downstream_gene_variant,,ENST00000383728,;APEH,downstream_gene_variant,,ENST00000438011,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,downstream_gene_variant,,ENST00000494828,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000493836,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;MST1,downstream_gene_variant,,ENST00000498021,;MST1,downstream_gene_variant,,ENST00000494809,;MST1,downstream_gene_variant,,ENST00000484269,;MST1,downstream_gene_variant,,ENST00000489007,;APEH,downstream_gene_variant,,ENST00000446089,;MST1,downstream_gene_variant,,ENST00000497359,;APEH,downstream_gene_variant,,ENST00000480772,;APEH,downstream_gene_variant,,ENST00000469362,;MST1,downstream_gene_variant,,ENST00000481930,;MST1,downstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000484144,;MST1,downstream_gene_variant,,ENST00000492370,;MST1,downstream_gene_variant,,ENST00000490966,;APEH,downstream_gene_variant,,ENST00000447436,;AC099668.5,downstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,downstream_gene_variant,,ENST00000480268,;APEH,downstream_gene_variant,,ENST00000482301,;MST1,downstream_gene_variant,,ENST00000481055,;	2371	167	177	SUCCESS
EPHA6	285220	.	GRCh37	3	97367160	97367160	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	116	0	ENST00000389672.5:c.2784+10234T>A		p.*928*	ENST00000389672	NM_001080448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46876.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTGCTAT	NONE	.	.	.	.	.	ENSP00000374323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODIFIER	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Cys331Ser,ENST00000502694,;EPHA6,missense_variant,p.Cys395Ser,ENST00000514100,;EPHA6,intron_variant,,ENST00000389672,;EPHA6,intron_variant,,ENST00000477384,;	.	116	77	SUCCESS
CLNK	116449	.	GRCh37	4	10522420	10522420	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	42	119	0	ENST00000226951.6:c.767A>G	p.Asn256Ser	p.N256S	ENST00000226951	NM_052964.2	256	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS47024.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTTTTGC	NONE	.	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF2	.	.	ENSP00000226951	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000226951	Transcript	.	.	ENSG00000109684	17438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.51)	.	CLNK_HUMAN	CLNK	HGNC	D6RJB9_HUMAN	.	UPI000004A23A	SNV	CLNK,missense_variant,p.Asn256Ser,ENST00000226951,;CLNK,downstream_gene_variant,,ENST00000442825,;CLNK,upstream_gene_variant,,ENST00000515667,;	1007	119	103	SUCCESS
HELQ	113510	.	GRCh37	4	84361091	84361091	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	401	268	605	0	ENST00000295488.3:c.1733A>T	p.Tyr578Phe	p.Y578F	ENST00000295488	NM_133636.2	578	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS3603.1	1733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAATAATTG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF57,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000295488	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000295488	Transcript	.	.	ENSG00000163312	18536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.03)	.	HELQ_HUMAN	HELQ	HGNC	.	.	UPI000013E25F	SNV	HELQ,missense_variant,p.Tyr511Phe,ENST00000510985,;HELQ,missense_variant,p.Tyr578Phe,ENST00000295488,;HELQ,3_prime_UTR_variant,,ENST00000508591,;	1896	606	670	SUCCESS
CDS1	1040	.	GRCh37	4	85564293	85564293	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	79	0	ENST00000295887.5:c.1149C>A	p.Ile383=	p.I383=	ENST00000295887	NM_001263.3	383	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3608.1	1149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCAAGGT	NONE	.	.	PIRSF_domain:PIRSF018269,Pfam_domain:PF01148,PROSITE_patterns:PS01315,hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF5	.	.	ENSP00000295887	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000295887	Transcript	.	.	ENSG00000163624	1800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDS1_HUMAN	CDS1	HGNC	.	.	UPI0000127453	SNV	CDS1,synonymous_variant,p.%3D,ENST00000295887,;	1572	79	56	SUCCESS
PAM	5066	.	GRCh37	5	102360941	102360941	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	81	182	0	ENST00000438793.3:c.2592G>T	p.Val864=	p.V864=	ENST00000438793	NM_001177306.1	864	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS43348.1	2592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGCCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13	.	.	ENSP00000306100	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000304400	Transcript	.	.	ENSG00000145730	8596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMD_HUMAN	PAM	HGNC	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN	.	UPI000015618B	SNV	PAM,synonymous_variant,p.%3D,ENST00000504691,;PAM,synonymous_variant,p.%3D,ENST00000348126,;PAM,synonymous_variant,p.%3D,ENST00000304400,;PAM,synonymous_variant,p.%3D,ENST00000274392,;PAM,synonymous_variant,p.%3D,ENST00000438793,;PAM,synonymous_variant,p.%3D,ENST00000379787,;PAM,intron_variant,,ENST00000379799,;PAM,intron_variant,,ENST00000346918,;PAM,intron_variant,,ENST00000455264,;PAM,non_coding_transcript_exon_variant,,ENST00000504456,;PAM,non_coding_transcript_exon_variant,,ENST00000515456,;PAM,intron_variant,,ENST00000510006,;PAM,3_prime_UTR_variant,,ENST00000345721,;	2778	182	182	SUCCESS
PCDHGB7	56099	.	GRCh37	5	140799184	140799184	+	synonymous_variant	Silent	SNP	C	C	T	rs780077182	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	40	67	0	ENST00000398594.2:c.1758C>T	p.Tyr586=	p.Y586=	ENST00000398594	NM_018927.3	586	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS47293.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTACCTGGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000381594	.	1/4	.	.	.	.	.	.	.	.	rs780077182	1/4	PASS	ENST00000398594	Transcript	.	.	ENSG00000254122	8714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGJ_HUMAN	PCDHGB7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007141F	SNV	PCDHGB7,synonymous_variant,p.%3D,ENST00000398594,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA11,upstream_gene_variant,,ENST00000398587,;PCDHGA11,upstream_gene_variant,,ENST00000518882,;	1758	67	94	SUCCESS
ITGA2	3673	.	GRCh37	5	52355710	52355710	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	45	90	0	ENST00000296585.5:c.1180C>A	p.Leu394Met	p.L394M	ENST00000296585	NM_002203.3	394	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS3957.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTCTGATG	NONE	.	.	Superfamily_domains:SSF69318,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,PROSITE_profiles:PS51470	.	.	ENSP00000296585	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	tolerated(0.33)	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,missense_variant,p.Leu394Met,ENST00000296585,;ITGA2,missense_variant,p.Leu394Met,ENST00000510722,;ITGA2,missense_variant,p.Leu394Met,ENST00000509960,;ITGA2,missense_variant,p.Leu394Met,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;	1323	90	103	SUCCESS
MEF2C	4208	.	GRCh37	5	88056848	88056849	+	intron_variant	Intron	INS	-	-	T	rs796052736	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	110	54	188	0	ENST00000437473.2:c.402+153dup		p.*134*	ENST00000437473	NM_001193350.1	138		0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS54878.1	412-413	INDELOCATOR|VARSCANI	.	CATTAATTTTT	NONE	.	.	hmmpanther:PTHR11945:SF25,hmmpanther:PTHR11945,Pfam_domain:PF12347	.	.	ENSP00000340874	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000340208	Transcript	1	.	ENSG00000081189	6996	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MEF2C_HUMAN	MEF2C	HGNC	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG14_HUMAN	.	UPI0000D9B539	insertion	MEF2C,frameshift_variant,p.Ile118AsnfsTer2,ENST00000507984,;MEF2C,frameshift_variant,p.Ile118AsnfsTer2,ENST00000513252,;MEF2C,frameshift_variant,p.Ile138AsnfsTer2,ENST00000340208,;MEF2C,frameshift_variant,p.Ile118AsnfsTer2,ENST00000424173,;MEF2C,frameshift_variant,p.Ile118AsnfsTer2,ENST00000506716,;MEF2C,intron_variant,,ENST00000504921,;MEF2C,intron_variant,,ENST00000510942,;MEF2C,intron_variant,,ENST00000514015,;MEF2C,intron_variant,,ENST00000506554,;MEF2C,intron_variant,,ENST00000437473,;MEF2C,intron_variant,,ENST00000514028,;MEF2C,intron_variant,,ENST00000508569,;MEF2C,intron_variant,,ENST00000539796,;MEF2C,downstream_gene_variant,,ENST00000502983,;MEF2C,downstream_gene_variant,,ENST00000503075,;MEF2C,downstream_gene_variant,,ENST00000508610,;MEF2C,downstream_gene_variant,,ENST00000502831,;MEF2C,intron_variant,,ENST00000503554,;	818-819	188	164	SUCCESS
MCM9	254394	.	GRCh37	6	119147392	119147392	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	108	0	ENST00000316316.6:c.1879C>T	p.Gln627Ter	p.Q627*	ENST00000316316	NM_017696.2	627	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS56447.1	1879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTGCTCTC	NONE	.	.	hmmpanther:PTHR11630:SF48,hmmpanther:PTHR11630	.	.	ENSP00000314505	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000316316	Transcript	.	.	ENSG00000111877	21484	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCM9_HUMAN	MCM9	HGNC	D6RHY8_HUMAN,D6RE85_HUMAN	.	UPI0001AE7302	SNV	MCM9,stop_gained,p.Gln119Ter,ENST00000458674,;MCM9,stop_gained,p.Gln627Ter,ENST00000316316,;MCM9,downstream_gene_variant,,ENST00000505485,;MCM9,downstream_gene_variant,,ENST00000368478,;	2166	108	89	SUCCESS
AHI1	54806	.	GRCh37	6	135708953	135708953	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	39	0	ENST00000265602.6:c.3109+6961A>T		p.*1037*	ENST00000265602	NM_001134831.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47483.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTATGAG	NONE	.	.	.	.	.	ENSP00000356774	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367800	Transcript	.	.	ENSG00000135541	21575	.	.	MODIFIER	21/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHI1_HUMAN	AHI1	HGNC	.	.	UPI00000701FB	SNV	AHI1,3_prime_UTR_variant,,ENST00000327035,;AHI1,intron_variant,,ENST00000265602,;AHI1,intron_variant,,ENST00000457866,;AHI1,intron_variant,,ENST00000367799,;AHI1,intron_variant,,ENST00000367800,;AHI1,intron_variant,,ENST00000417892,;AHI1,intron_variant,,ENST00000531788,;AHI1,intron_variant,,ENST00000475846,;	.	39	38	SUCCESS
BCLAF1	9774	.	GRCh37	6	136582573	136582573	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773332392	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	106	0	ENST00000531224.1:c.2587G>A	p.Gly863Arg	p.G863R	ENST00000531224	NM_001077441.1	863	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5177.1	2587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCTCTTT	CODON|p.G863E|c.2588G>A|3	.	.	hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000435210	.	12/13	.	.	.	.	.	.	.	.	rs773332392	12/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Gly812Arg,ENST00000392348,;BCLAF1,missense_variant,p.Gly130Arg,ENST00000534762,;BCLAF1,missense_variant,p.Gly812Arg,ENST00000353331,;BCLAF1,missense_variant,p.Gly863Arg,ENST00000531224,;BCLAF1,missense_variant,p.Gly690Arg,ENST00000530767,;BCLAF1,missense_variant,p.Gly814Arg,ENST00000527536,;BCLAF1,missense_variant,p.Gly861Arg,ENST00000527759,;BCLAF1,missense_variant,p.Gly81Arg,ENST00000031135,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Gly69Arg,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;	2840	106	119	SUCCESS
MYLIP	29116	.	GRCh37	6	16143347	16143347	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	71	145	0	ENST00000356840.3:c.561A>T	p.Ile187=	p.I187=	ENST00000356840	NM_013262.3	187	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4536.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATAGAATG	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00295,Gene3D:2.30.29.30,Pfam_domain:PF00373,hmmpanther:PTHR23280,PROSITE_profiles:PS50057	.	.	ENSP00000349298	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000356840	Transcript	.	.	ENSG00000007944	21155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYLIP_HUMAN	MYLIP	HGNC	Q5TIA5_HUMAN	.	UPI000006CDE0	SNV	MYLIP,synonymous_variant,p.%3D,ENST00000349606,;MYLIP,synonymous_variant,p.%3D,ENST00000356840,;MIR4639,downstream_gene_variant,,ENST00000584938,;	759	145	167	SUCCESS
T	0	.	GRCh37	6	166581099	166581099	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	43	0	ENST00000296946.2:c.-20G>T		p.*7*	ENST00000296946	NM_003181.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5290.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTCCCCGC	NONE	.	.	.	.	.	ENSP00000296946	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,5_prime_UTR_variant,,ENST00000461348,;T,5_prime_UTR_variant,,ENST00000366876,;T,5_prime_UTR_variant,,ENST00000366871,;T,5_prime_UTR_variant,,ENST00000296946,;	450	43	33	SUCCESS
CCHCR1	54535	.	GRCh37	6	31110818	31110818	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775751793	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	77	159	0	ENST00000376266.5:c.2146G>T	p.Val716Leu	p.V716L	ENST00000376266	NM_019052.3	716	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS43445.1	2413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACACCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23161:SF4,hmmpanther:PTHR23161,Pfam_domain:PF07111	.	.	ENSP00000379566	.	17/18	.	.	.	.	.	.	.	.	rs775751793	17/18	PASS	ENST00000396268	Transcript	.	.	ENSG00000204536	13930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.25)	.	CCHCR_HUMAN	CCHCR1	HGNC	E9PGB6_HUMAN,E7EQE8_HUMAN,E7EQC5_HUMAN,D6RDI7_HUMAN,D6RD84_HUMAN,D6RBG1_HUMAN,D6RB88_HUMAN,B4DIA2_HUMAN,B0V092_HUMAN,A9XAL3_HUMAN,A9XAG5_HUMAN,A9XAF5_HUMAN,A9XAC7_HUMAN,A2ABH4_HUMAN,A2ABH3_HUMAN	.	UPI0000E5ACDF	SNV	CCHCR1,missense_variant,p.Val769Leu,ENST00000451521,;CCHCR1,missense_variant,p.Val663Leu,ENST00000396263,;CCHCR1,missense_variant,p.Val805Leu,ENST00000396268,;CCHCR1,missense_variant,p.Val716Leu,ENST00000376266,;PSORS1C1,downstream_gene_variant,,ENST00000481450,;PSORS1C2,upstream_gene_variant,,ENST00000259845,;PSORS1C1,downstream_gene_variant,,ENST00000547221,;PSORS1C1,downstream_gene_variant,,ENST00000259881,;PSORS1C1,downstream_gene_variant,,ENST00000479581,;PSORS1C1,downstream_gene_variant,,ENST00000552747,;PSORS1C1,downstream_gene_variant,,ENST00000550838,;CCHCR1,downstream_gene_variant,,ENST00000467553,;CCHCR1,downstream_gene_variant,,ENST00000486060,;CCHCR1,downstream_gene_variant,,ENST00000509552,;POLR2LP,downstream_gene_variant,,ENST00000444785,;	2602	159	190	SUCCESS
PTP4A1	7803	.	GRCh37	6	64286611	64286611	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	25	0	ENST00000370651.3:c.-175C>G		p.*59*	ENST00000370651	NM_003463.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCTGCTT	NONE	.	.	.	.	.	ENSP00000359685	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000370651	Transcript	.	.	ENSG00000112245	9634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TP4A1_HUMAN	PTP4A1	HGNC	.	.	UPI00000227B8	SNV	PTP4A1,5_prime_UTR_variant,,ENST00000370650,;PTP4A1,5_prime_UTR_variant,,ENST00000370651,;PTP4A1,downstream_gene_variant,,ENST00000578299,;RP5-1148A21.3,upstream_gene_variant,,ENST00000584934,;PTP4A1,downstream_gene_variant,,ENST00000470661,;PTP4A1,downstream_gene_variant,,ENST00000473334,;	979	25	25	SUCCESS
COL19A1	1310	.	GRCh37	6	70890392	70890392	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs369271643	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	134	0	ENST00000322773.4:c.2752C>G	p.Pro918Ala	p.P918A	ENST00000322773	NM_001858.4	918	Cca/Gca	0	G:0	.	.	.	.	G	P/A	protein_coding	YES	CCDS4970.1	2752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACCAGAA	NONE	byFrequency|byCluster	.	Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	.	G:0.0001	ENSP00000316030	.	44/51	.	.	.	.	.	.	.	.	rs369271643,COSM597243	44/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.955)	.	tolerated(0.2)	0,1	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Pro918Ala,ENST00000322773,;COL19A1,missense_variant,p.Pro540Ala,ENST00000393344,;	2854	134	114	SUCCESS
WASL	8976	.	GRCh37	7	123346348	123346348	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	81	0	ENST00000223023.4:c.419G>A	p.Arg140His	p.R140H	ENST00000223023	NM_003941.3	140	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34743.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGACGGCCC	NONE	.	.	Superfamily_domains:SSF50729,Gene3D:2.30.29.30,hmmpanther:PTHR12779:SF3,hmmpanther:PTHR12779,PROSITE_profiles:PS50229	.	.	ENSP00000223023	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000223023	Transcript	.	.	ENSG00000106299	12735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	WASL_HUMAN	WASL	HGNC	.	.	UPI000013C821	SNV	WASL,missense_variant,p.Arg140His,ENST00000223023,;	752	81	104	SUCCESS
ZNF800	168850	.	GRCh37	7	127031567	127031569	+	inframe_deletion	In_Frame_Del	DEL	GTG	GTG	-	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	GTG	GTG	.	.	.	.	.	.	.	.	.	.	.	.	.	64	31	109	0	ENST00000265827.3:c.43_45del	p.His15del	p.H15del	ENST00000265827	NM_176814.3	15	CAC/-	0	.	.	.	.	.	-	H/-	protein_coding	YES	CCDS5795.1	43-45	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATCCGTGATGAT	NONE	.	.	hmmpanther:PTHR21020	.	.	ENSP00000376989	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000393313	Transcript	.	.	ENSG00000048405	27267	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN800_HUMAN	ZNF800	HGNC	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN	.	UPI000020FA03	deletion	ZNF800,inframe_deletion,p.His15del,ENST00000393312,;ZNF800,inframe_deletion,p.His15del,ENST00000393313,;ZNF800,inframe_deletion,p.His15del,ENST00000265827,;ZNF800,inframe_deletion,p.His15del,ENST00000439506,;ZNF800,inframe_deletion,p.His15del,ENST00000436992,;ZNF800,inframe_deletion,p.His15del,ENST00000434602,;	635-637	109	95	SUCCESS
DENND2A	27147	.	GRCh37	7	140223158	140223158	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	56	0	ENST00000275884.6:c.2614A>T	p.Arg872Trp	p.R872W	ENST00000275884		872	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS43659.1	2614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTCTGTT	NONE	.	.	hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288	.	.	ENSP00000275884	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000275884	Transcript	.	.	ENSG00000146966	22212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,missense_variant,p.Arg872Trp,ENST00000496613,;DENND2A,missense_variant,p.Arg872Trp,ENST00000537639,;DENND2A,missense_variant,p.Arg872Trp,ENST00000275884,;DENND2A,downstream_gene_variant,,ENST00000469373,;DENND2A,missense_variant,p.Arg852Ser,ENST00000461883,;	3032	56	58	SUCCESS
DENND2A	27147	.	GRCh37	7	140273641	140273641	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	75	165	0	ENST00000275884.6:c.1413A>T	p.Pro471=	p.P471=	ENST00000275884		471	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43659.1	1413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTGGGTC	NONE	.	.	hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288	.	.	ENSP00000275884	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000275884	Transcript	.	.	ENSG00000146966	22212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,synonymous_variant,p.%3D,ENST00000475837,;DENND2A,synonymous_variant,p.%3D,ENST00000496613,;DENND2A,synonymous_variant,p.%3D,ENST00000492720,;DENND2A,synonymous_variant,p.%3D,ENST00000537639,;DENND2A,synonymous_variant,p.%3D,ENST00000275884,;DENND2A,synonymous_variant,p.%3D,ENST00000461883,;	1831	165	154	SUCCESS
TAS2R38	5726	.	GRCh37	7	141673266	141673266	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	40	88	0	ENST00000547270.1:c.224C>A	p.Ala75Asp	p.A75D	ENST00000547270	NM_176817.4	75	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS34765.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATAGCACTC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF52,hmmpanther:PTHR11394	.	.	ENSP00000448219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000547270	Transcript	.	.	ENSG00000257138	9584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	T2R38_HUMAN	TAS2R38	HGNC	Q50KM3_HUMAN,Q50KM1_HUMAN	.	UPI000000D825	SNV	TAS2R38,missense_variant,p.Ala75Asp,ENST00000547270,;MGAM,intron_variant,,ENST00000465654,;	308	88	91	SUCCESS
AC005013.1	0	.	GRCh37	7	28997728	28997728	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	21	39	0	ENST00000539664.1:n.302G>T		p.*101*	ENST00000539664				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCATTCC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436594	Transcript	.	.	ENSG00000228421	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC005013.5	Clone_based_vega_gene	.	.	.	SNV	AC005013.5,intron_variant,,ENST00000436594,;TRIL,non_coding_transcript_exon_variant,,ENST00000322982,;AC005013.1,non_coding_transcript_exon_variant,,ENST00000539664,;	.	39	38	SUCCESS
IKZF1	10320	.	GRCh37	7	50468300	50468300	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	47	0	ENST00000331340.3:c.1535G>A	p.Gly512Glu	p.G512E	ENST00000331340	NM_006060.4	512	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS59055.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGGGGAGC	CODON|p.?|c.161-?_1560+?del|29	.	.	SMART_domains:SM00355,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23	.	.	ENSP00000413025	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.Gly512Glu,ENST00000331340,;IKZF1,missense_variant,p.Gly369Glu,ENST00000349824,;IKZF1,missense_variant,p.Gly425Glu,ENST00000343574,;IKZF1,missense_variant,p.Gly282Glu,ENST00000346667,;IKZF1,missense_variant,p.Gly425Glu,ENST00000357364,;IKZF1,missense_variant,p.Gly425Glu,ENST00000438033,;IKZF1,missense_variant,p.Gly470Glu,ENST00000359197,;IKZF1,missense_variant,p.Gly470Glu,ENST00000439701,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	1608	47	40	SUCCESS
CHCHD2	51142	.	GRCh37	7	56170565	56170565	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	62	0	ENST00000395422.3:c.440C>G	p.Ala147Gly	p.A147G	ENST00000395422	NM_016139.2	147	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS5526.1	440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTGCAAGT	NONE	.	.	hmmpanther:PTHR13523,hmmpanther:PTHR13523:SF3	.	.	ENSP00000378812	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395422	Transcript	.	.	ENSG00000106153	21645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	tolerated(0.05)	.	CHCH2_HUMAN	CHCHD2	HGNC	.	.	UPI0000073DC7	SNV	CHCHD2,missense_variant,p.Ala147Gly,ENST00000395422,;snoU13,downstream_gene_variant,,ENST00000458988,;CHCHD2,non_coding_transcript_exon_variant,,ENST00000473095,;	603	62	62	SUCCESS
CLIP2	7461	.	GRCh37	7	73790427	73790427	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	65	186	0	ENST00000223398.6:c.1696A>T	p.Lys566Ter	p.K566*	ENST00000223398	NM_003388.4	566	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS5569.1	1696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATAAATAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916:SF10,hmmpanther:PTHR18916	.	.	ENSP00000223398	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000223398	Transcript	.	.	ENSG00000106665	2586	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLIP2_HUMAN	CLIP2	HGNC	Q7Z5B7_HUMAN	.	UPI000007061E	SNV	CLIP2,stop_gained,p.Lys566Ter,ENST00000395060,;CLIP2,stop_gained,p.Lys531Ter,ENST00000361545,;CLIP2,stop_gained,p.Lys566Ter,ENST00000223398,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,non_coding_transcript_exon_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;	2023	186	172	SUCCESS
PCLO	27445	.	GRCh37	7	82435068	82435068	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	126	0	ENST00000333891.9:c.14869A>G	p.Ser4957Gly	p.S4957G	ENST00000333891	NM_033026.5	4957	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS47630.1	14869	RADIA|MUTECT|MUSE	.	CACGCTATACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ser4957Gly,ENST00000333891,;PCLO,non_coding_transcript_exon_variant,,ENST00000432078,;	15207	126	106	SUCCESS
ABCB1	5243	.	GRCh37	7	87175239	87175239	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	109	0	ENST00000265724.3:c.1827A>T	p.Lys609Asn	p.K609N	ENST00000265724	NM_000927.4	609	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5608.1	1827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTTTCTC	BUFFER|p.G610E|c.1829G>A|4	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000265724	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.06)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Lys609Asn,ENST00000265724,;ABCB1,missense_variant,p.Lys545Asn,ENST00000543898,;ABCB1,downstream_gene_variant,,ENST00000482527,;	2245	109	129	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110376804	110376804	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	89	59	0	ENST00000378402.5:c.102A>T	p.Thr34=	p.T34=	ENST00000378402	NM_177531.4	34	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47911.1	102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACAGAAAT	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	2/78	.	.	.	.	.	.	.	.	.	2/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,synonymous_variant,p.%3D,ENST00000378402,;	206	59	129	SUCCESS
TCEA1	6917	.	GRCh37	8	54912504	54912504	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	85	178	1	ENST00000521604.2:c.232+1G>A		p.X78_splice	ENST00000521604	NM_006756.2	78		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47858.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATACCTAAT	NONE	.	.	.	.	.	ENSP00000428426	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521604	Transcript	.	.	ENSG00000187735	11612	.	.	HIGH	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCEA1_HUMAN	TCEA1	HGNC	.	.	UPI0000136ABE	SNV	TCEA1,splice_donor_variant,,ENST00000396401,;TCEA1,splice_donor_variant,,ENST00000521604,;TCEA1,splice_donor_variant,,ENST00000520534,;TCEA1,missense_variant,p.Gly78Asp,ENST00000518784,;TCEA1,intron_variant,,ENST00000522635,;TCEA1,splice_donor_variant,,ENST00000521836,;TCEA1,splice_donor_variant,,ENST00000522397,;TCEA1,splice_donor_variant,,ENST00000521086,;TCEA1,splice_donor_variant,,ENST00000517351,;TCEA1,splice_donor_variant,,ENST00000518310,;TCEA1,downstream_gene_variant,,ENST00000519704,;	.	179	263	SUCCESS
CCDC180	100499483	.	GRCh37	9	100080860	100080860	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs919077615	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	43	0	ENST00000375202.2:c.1207A>T	p.Ile403Phe	p.I403F	ENST00000375202		403	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS35077.2	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCATCTGG	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444,Pfam_domain:PF14643	.	.	ENSP00000364348	.	24/51	.	.	.	.	.	.	.	.	.	24/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.1)	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,missense_variant,p.Ile542Phe,ENST00000357054,;CCDC180,missense_variant,p.Ile403Phe,ENST00000375202,;CCDC180,missense_variant,p.Ile403Phe,ENST00000529487,;CCDC180,missense_variant,p.Ile400Phe,ENST00000411667,;CCDC180,intron_variant,,ENST00000395220,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,intron_variant,,ENST00000529787,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;	2559	43	50	SUCCESS
OR1L3	26735	.	GRCh37	9	125437433	125437434	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	rs1564232922	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	100	0	ENST00000304820.2:c.29_30del	p.Ser10Ter	p.S10*	ENST00000304820	NM_001005234.1	9	CTc/c	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS35128.1	25-26	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAGACTCTCTG	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF198,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000302863	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304820	Transcript	.	.	ENSG00000171481	8215	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR1L3_HUMAN	OR1L3	HGNC	.	.	UPI000004618D	deletion	OR1L3,frameshift_variant,p.Ser10Ter,ENST00000304820,;	119-120	100	92	SUCCESS
FAM78A	286336	.	GRCh37	9	134145689	134145689	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	54	96	1	ENST00000372271.3:c.323+5555A>T		p.*108*	ENST00000372271	NM_033387.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6941.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACTGTCCT	NONE	.	.	.	.	.	ENSP00000361345	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372271	Transcript	.	.	ENSG00000126882	25465	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA78A_HUMAN	FAM78A	HGNC	.	.	UPI000013F430	SNV	FAM78A,missense_variant,p.Gln41Leu,ENST00000372269,;FAM78A,intron_variant,,ENST00000464831,;FAM78A,intron_variant,,ENST00000372271,;	.	97	118	SUCCESS
COL5A1	1289	.	GRCh37	9	137534099	137534101	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-	rs773994971	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	GCT	GCT	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	27	0	ENST00000371817.3:c.82_84del	p.Leu28del	p.L28del	ENST00000371817	NM_001278074.1	22	ccGCTg/ccg	0	.	.	.	.	.	-	PL/P	protein_coding	YES	CCDS6982.1	66-68	INDELOCATOR|VARSCANI	.	GCCCCCGCTGCTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000360882	.	1/66	.	.	.	.	.	.	.	.	rs773994971	1/66	common_in_exac	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	16	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	deletion	COL5A1,inframe_deletion,p.Leu28del,ENST00000371817,;	480-482	27	32	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84530849	84530849	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	38	0	ENST00000527857.1:n.871T>A		p.*291*	ENST00000527857				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATGAACC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	871	38	36	SUCCESS
SLC25A6	293	.	GRCh37	X	1508319	1508319	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	73	167	0	ENST00000381401.5:c.413G>A	p.Arg138Lys	p.R138K	ENST00000381401	NM_001636.3	138	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS14114.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTCTGGCG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF217,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00926	.	.	ENSP00000370808	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000381401	Transcript	.	.	ENSG00000169100	10992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ADT3_HUMAN	SLC25A6	HGNC	Q6I9V5_HUMAN,Q59EI9_HUMAN,I7HJJ0_HUMAN	.	UPI00000015FE	SNV	SLC25A6,missense_variant,p.Arg138Lys,ENST00000381401,;SLC25A6,non_coding_transcript_exon_variant,,ENST00000484026,;SLC25A6,non_coding_transcript_exon_variant,,ENST00000475167,;	1128	167	186	SUCCESS
MPP1	4354	.	GRCh37	X	154020561	154020561	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs782227572	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	74	41	0	ENST00000369534.3:c.103-1G>A		p.X35_splice	ENST00000369534	NM_001166461.1	35		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14762.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ACAGCCTGCCA	NONE	byFrequency	.	.	.	.	ENSP00000358547	.	.	.	.	.	.	.	.	.	.	rs782227572	.	PASS	ENST00000369534	Transcript	.	.	ENSG00000130830	7219	.	.	HIGH	1/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EM55_HUMAN	MPP1	HGNC	A8MTH1_HUMAN	.	UPI0000129E86	SNV	MPP1,splice_acceptor_variant,,ENST00000393531,;MPP1,splice_acceptor_variant,,ENST00000413259,;MPP1,splice_acceptor_variant,,ENST00000369531,;MPP1,splice_acceptor_variant,,ENST00000393529,;MPP1,splice_acceptor_variant,,ENST00000369534,;MPP1,intron_variant,,ENST00000428488,;MPP1,intron_variant,,ENST00000453245,;MPP1,splice_acceptor_variant,,ENST00000471821,;MPP1,non_coding_transcript_exon_variant,,ENST00000488694,;MPP1,intron_variant,,ENST00000462825,;MPP1,upstream_gene_variant,,ENST00000488754,;MPP1,splice_acceptor_variant,,ENST00000439370,;MPP1,splice_acceptor_variant,,ENST00000417435,;MPP1,intron_variant,,ENST00000475943,;MPP1,intron_variant,,ENST00000494170,;	.	41	87	SUCCESS
IL9R	3581	.	GRCh37	X	155227274	155227274	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	201	135	0	ENST00000244174.5:c.-151A>T		p.*51*	ENST00000244174	NM_002186.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14771.4	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTTTCAGATGT	NONE	.	.	.	.	.	ENSP00000244174	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,5_prime_UTR_variant,,ENST00000244174,;IL9R,5_prime_UTR_variant,,ENST00000424344,;IL9R,upstream_gene_variant,,ENST00000369423,;IL9R,upstream_gene_variant,,ENST00000540897,;IL9R,upstream_gene_variant,,ENST00000489233,;	29	135	312	SUCCESS
SLC7A3	84889	.	GRCh37	X	70149624	70149624	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	355	185	1	ENST00000298085.4:c.224T>A	p.Leu75Gln	p.L75Q	ENST00000298085	NM_001048164.2	75	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14404.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACAGGGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF209,hmmpanther:PTHR11785,TIGRFAM_domain:TIGR00906,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000363417	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000374299	Transcript	.	.	ENSG00000165349	11061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	CTR3_HUMAN	SLC7A3	HGNC	.	.	UPI0000049F96	SNV	SLC7A3,missense_variant,p.Leu75Gln,ENST00000374299,;SLC7A3,missense_variant,p.Leu75Gln,ENST00000298085,;	369	187	384	SUCCESS
MMP21	118856	.	GRCh37	10	127456123	127456123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	79	0	ENST00000368808.3:c.1388T>C	p.Ile463Thr	p.I463T	ENST00000368808	NM_147191.1	463	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS7647.1	1388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAATTAAC	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF123,hmmpanther:PTHR10201,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000357798	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000368808	Transcript	.	.	ENSG00000154485	14357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	deleterious(0.04)	.	MMP21_HUMAN	MMP21	HGNC	.	.	UPI000006FDF6	SNV	MMP21,missense_variant,p.Ile463Thr,ENST00000368808,;EDRF1,downstream_gene_variant,,ENST00000356792,;EDRF1,downstream_gene_variant,,ENST00000337623,;EDRF1,downstream_gene_variant,,ENST00000368815,;EDRF1,downstream_gene_variant,,ENST00000527655,;EDRF1,downstream_gene_variant,,ENST00000481600,;EDRF1,downstream_gene_variant,,ENST00000419769,;EDRF1,downstream_gene_variant,,ENST00000368812,;EDRF1,downstream_gene_variant,,ENST00000525358,;	1388	79	112	SUCCESS
DOCK1	1793	.	GRCh37	10	128835982	128835982	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	58	0	ENST00000280333.6:c.1850-1G>A		p.X617_splice	ENST00000280333	NM_001380.3	617		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTGGAC	NONE	.	.	.	.	.	ENSP00000280333	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	HIGH	18/51	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,splice_acceptor_variant,,ENST00000280333,;	.	58	85	SUCCESS
MKI67	4288	.	GRCh37	10	129914021	129914021	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	46	0	ENST00000368654.3:c.651A>T	p.Glu217Asp	p.E217D	ENST00000368654	NM_002417.4	217	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS7659.1	651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATTCTCC	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	.	ENSP00000357643	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	tolerated(0.06)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Glu217Asp,ENST00000368654,;MKI67,intron_variant,,ENST00000368653,;MKI67,non_coding_transcript_exon_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,;	1027	46	58	SUCCESS
MMS19	64210	.	GRCh37	10	99219816	99219816	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	52	126	0	ENST00000370782.2:c.2643T>C	p.His881=	p.H881=	ENST00000370782		881	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS7464.1	2643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCATGGAA	NONE	.	.	hmmpanther:PTHR12891,Gene3D:1.25.10.10,Pfam_domain:PF12460,Superfamily_domains:SSF48371	.	.	ENSP00000412698	.	26/31	.	.	.	.	.	.	.	.	.	26/31	PASS	ENST00000438925	Transcript	.	.	ENSG00000155229	13824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMS19_HUMAN	MMS19	HGNC	.	.	UPI000013DDF7	SNV	MMS19,synonymous_variant,p.%3D,ENST00000370782,;MMS19,synonymous_variant,p.%3D,ENST00000327238,;MMS19,synonymous_variant,p.%3D,ENST00000438925,;MMS19,synonymous_variant,p.%3D,ENST00000355839,;MMS19,synonymous_variant,p.%3D,ENST00000434538,;MMS19,3_prime_UTR_variant,,ENST00000327277,;ZDHHC16,downstream_gene_variant,,ENST00000345745,;ZDHHC16,downstream_gene_variant,,ENST00000417044,;ZDHHC16,downstream_gene_variant,,ENST00000352634,;ZDHHC16,downstream_gene_variant,,ENST00000433086,;ZDHHC16,downstream_gene_variant,,ENST00000370842,;ZDHHC16,downstream_gene_variant,,ENST00000370854,;ZDHHC16,downstream_gene_variant,,ENST00000370846,;ZDHHC16,downstream_gene_variant,,ENST00000393760,;MMS19,upstream_gene_variant,,ENST00000444411,;ZDHHC16,downstream_gene_variant,,ENST00000353979,;ZDHHC16,downstream_gene_variant,,ENST00000420089,;ZDHHC16,downstream_gene_variant,,ENST00000492733,;ZDHHC16,downstream_gene_variant,,ENST00000462924,;ZDHHC16,downstream_gene_variant,,ENST00000487315,;ZDHHC16,downstream_gene_variant,,ENST00000459777,;ZDHHC16,downstream_gene_variant,,ENST00000495735,;ZDHHC16,downstream_gene_variant,,ENST00000466895,;MMS19,3_prime_UTR_variant,,ENST00000415383,;MMS19,non_coding_transcript_exon_variant,,ENST00000485400,;MMS19,non_coding_transcript_exon_variant,,ENST00000495415,;MMS19,downstream_gene_variant,,ENST00000478452,;MMS19,downstream_gene_variant,,ENST00000480108,;	2979	126	134	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103026197	103026197	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	119	1	ENST00000375735.2:c.3711T>A	p.Ala1237=	p.A1237=	ENST00000375735	NM_001080463.1	1237	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44717.1	3711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCTGATAC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08393	.	.	ENSP00000381167	.	25/90	.	.	.	.	.	.	.	.	.	25/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,synonymous_variant,p.%3D,ENST00000398093,;DYNC2H1,synonymous_variant,p.%3D,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	3711	120	102	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103156996	103156996	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1427787839	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	51	0	ENST00000375735.2:c.10903A>G	p.Ser3635Gly	p.S3635G	ENST00000375735	NM_001080463.1	3635	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS44717.1	10924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAGTCTT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF03028	.	.	ENSP00000381167	.	75/90	.	.	.	.	.	.	.	.	.	75/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Ser3642Gly,ENST00000398093,;DYNC2H1,missense_variant,p.Ser3635Gly,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,missense_variant,p.Ser28Gly,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000525306,;	10924	51	66	SUCCESS
NCAM1	4684	.	GRCh37	11	113142501	113142501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	61	0	ENST00000316851.7:c.2329C>A	p.Pro777Thr	p.P777T	ENST00000316851	NM_181351.4	777	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	2506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCCCATC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34	.	.	ENSP00000474028	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,missense_variant,p.Pro836Thr,ENST00000524665,;NCAM1,missense_variant,p.Pro777Thr,ENST00000316851,;NCAM1-AS1,intron_variant,,ENST00000526229,;NCAM1-AS1,intron_variant,,ENST00000533638,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,non_coding_transcript_exon_variant,,ENST00000528590,;NCAM1,non_coding_transcript_exon_variant,,ENST00000533073,;NCAM1,upstream_gene_variant,,ENST00000528158,;NCAM1,downstream_gene_variant,,ENST00000526427,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531927,;NCAM1,non_coding_transcript_exon_variant,,ENST00000533226,;	2506	61	65	SUCCESS
DCDC1	341019	.	GRCh37	11	30953494	30953494	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs376169976	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	52	1	ENST00000597505.1:c.2721T>G	p.Phe907Leu	p.F907L	ENST00000597505		907	ttT/ttG	0	.	.	.	.	.	C	F/L	protein_coding	.	.	2721	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAATCAAACTC	NONE	.	.	.	.	.	ENSP00000472625	.	20/36	.	.	.	.	.	.	.	.	rs376169976	20/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.294)	.	deleterious(0.02)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Phe907Leu,ENST00000597505,;DCDC1,5_prime_UTR_variant,,ENST00000339794,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	2721	53	58	SUCCESS
OR5M11	219487	.	GRCh37	11	56310580	56310580	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	63	87	0	ENST00000528616.2:c.154G>A	p.Asp52Asn	p.D52N	ENST00000528616	NM_001005245.1	52	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS53629.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTCCAGTC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF97,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000432417	.	1/1	.	.	.	.	.	.	.	.	COSM688505	1/1	PASS	ENST00000528616	Transcript	.	.	ENSG00000255223	15291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	tolerated(0.33)	1	OR5MB_HUMAN	OR5M11	HGNC	.	.	UPI00000405CF	SNV	OR5M11,missense_variant,p.Asp52Asn,ENST00000528616,;	178	87	130	SUCCESS
OR9G1	390174	.	GRCh37	11	56468039	56468039	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs752912640	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	70	0	ENST00000312153.1:c.176A>G	p.Tyr59Cys	p.Y59C	ENST00000312153	NM_001005213.1	59	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31536.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTATTTTT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	rs752912640	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,missense_variant,p.Tyr59Cys,ENST00000312153,;	176	70	54	SUCCESS
HRASLS5	0	.	GRCh37	11	63257813	63257813	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	31	0	ENST00000301790.4:c.171T>C	p.Leu57=	p.L57=	ENST00000301790		57	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8044.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCAAGGGG	NONE	.	.	.	.	.	ENSP00000301790	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000301790	Transcript	.	.	ENSG00000168004	24978	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRSL5_HUMAN	HRASLS5	HGNC	F5H4Q3_HUMAN	.	UPI000013E758	SNV	HRASLS5,synonymous_variant,p.%3D,ENST00000539221,;HRASLS5,synonymous_variant,p.%3D,ENST00000301790,;HRASLS5,splice_region_variant,,ENST00000540857,;HRASLS5,5_prime_UTR_variant,,ENST00000538712,;HRASLS5,splice_region_variant,,ENST00000536887,;HRASLS5,intron_variant,,ENST00000394615,;	331	31	55	SUCCESS
CATSPER1	117144	.	GRCh37	11	65790380	65790380	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1458412608	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	84	0	ENST00000312106.5:c.1369G>T	p.Val457Phe	p.V457F	ENST00000312106	NM_053054.3	457	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS8127.1	1369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACAACGA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32	.	.	ENSP00000309052	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000312106	Transcript	.	.	ENSG00000175294	17116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	CTSR1_HUMAN	CATSPER1	HGNC	.	.	UPI000045651C	SNV	CATSPER1,missense_variant,p.Val457Phe,ENST00000312106,;CATSPER1,upstream_gene_variant,,ENST00000529244,;	1507	84	85	SUCCESS
EPS8L2	64787	.	GRCh37	11	721563	721563	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs111293076	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	109	145	0	ENST00000318562.8:c.769-2A>T		p.X257_splice	ENST00000318562	NM_022772.3	257		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31328.1	.	RADIA|MUTECT|MUSE	.	ACCCCAGCAAA	NONE	byCluster	.	.	.	.	ENSP00000435585	.	.	.	.	.	.	.	.	.	.	rs111293076	.	PASS	ENST00000533256	Transcript	.	.	ENSG00000177106	21296	.	.	HIGH	10/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ES8L2_HUMAN	EPS8L2	HGNC	E9PNY4_HUMAN,E9PNT0_HUMAN,E9PN68_HUMAN,E9PLN2_HUMAN,E9PLH1_HUMAN	.	UPI000006226C	SNV	EPS8L2,splice_acceptor_variant,,ENST00000318562,;EPS8L2,splice_acceptor_variant,,ENST00000530636,;EPS8L2,splice_acceptor_variant,,ENST00000526198,;EPS8L2,splice_acceptor_variant,,ENST00000533256,;EPS8L2,downstream_gene_variant,,ENST00000533500,;EPS8L2,downstream_gene_variant,,ENST00000534755,;EPS8L2,downstream_gene_variant,,ENST00000531348,;EPS8L2,downstream_gene_variant,,ENST00000524763,;AP006621.9,intron_variant,,ENST00000527021,;EPS8L2,splice_acceptor_variant,,ENST00000524474,;EPS8L2,splice_acceptor_variant,,ENST00000526651,;EPS8L2,splice_acceptor_variant,,ENST00000532545,;EPS8L2,splice_acceptor_variant,,ENST00000533816,;EPS8L2,splice_acceptor_variant,,ENST00000529346,;EPS8L2,splice_acceptor_variant,,ENST00000531471,;EPS8L2,splice_acceptor_variant,,ENST00000528770,;EPS8L2,splice_acceptor_variant,,ENST00000530452,;EPS8L2,splice_acceptor_variant,,ENST00000526909,;EPS8L2,upstream_gene_variant,,ENST00000531393,;EPS8L2,downstream_gene_variant,,ENST00000527807,;EPS8L2,upstream_gene_variant,,ENST00000527832,;EPS8L2,upstream_gene_variant,,ENST00000534679,;EPS8L2,upstream_gene_variant,,ENST00000534027,;EPS8L2,downstream_gene_variant,,ENST00000530118,;	.	145	233	SUCCESS
PICALM	8301	.	GRCh37	11	85722082	85722082	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	83	0	ENST00000393346.3:c.756A>C	p.Lys252Asn	p.K252N	ENST00000393346		252	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS8272.1	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACTTTGAG	NONE	.	.	hmmpanther:PTHR22951:SF16,hmmpanther:PTHR22951,Pfam_domain:PF07651,Gene3D:1hf8A02,Superfamily_domains:SSF89009	.	.	ENSP00000377015	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000393346	Transcript	.	.	ENSG00000073921	15514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.782)	.	deleterious(0)	.	PICAL_HUMAN	PICALM	HGNC	E9PLJ8_HUMAN,E9PKP6_HUMAN,E9PI56_HUMAN	.	UPI00001AE879	SNV	PICALM,missense_variant,p.Lys252Asn,ENST00000532317,;PICALM,missense_variant,p.Lys252Asn,ENST00000393346,;PICALM,missense_variant,p.Lys252Asn,ENST00000356360,;PICALM,missense_variant,p.Lys201Asn,ENST00000528398,;PICALM,missense_variant,p.Lys252Asn,ENST00000526033,;PICALM,downstream_gene_variant,,ENST00000525162,;PICALM,downstream_gene_variant,,ENST00000528256,;PICALM,downstream_gene_variant,,ENST00000531930,;PICALM,3_prime_UTR_variant,,ENST00000534412,;PICALM,non_coding_transcript_exon_variant,,ENST00000531771,;PICALM,downstream_gene_variant,,ENST00000531558,;PICALM,downstream_gene_variant,,ENST00000532041,;	905	83	85	SUCCESS
CCDC81	60494	.	GRCh37	11	86086183	86086183	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	42	0	ENST00000445632.2:c.-23A>G		p.*8*	ENST00000445632	NM_001156474.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53691.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTACGGAG	NONE	.	.	.	.	.	ENSP00000415528	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000445632	Transcript	.	.	ENSG00000149201	26281	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD81_HUMAN	CCDC81	HGNC	B4DQN0_HUMAN	.	UPI0000E5BE97	SNV	CCDC81,5_prime_UTR_variant,,ENST00000531271,;CCDC81,5_prime_UTR_variant,,ENST00000445632,;CCDC81,5_prime_UTR_variant,,ENST00000278487,;CCDC81,5_prime_UTR_variant,,ENST00000354755,;	250	42	46	SUCCESS
C12orf43	64897	.	GRCh37	12	121448715	121448715	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	51	112	0	ENST00000288757.3:c.203A>T	p.Glu68Val	p.E68V	ENST00000288757	NM_022895.1	68	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS9210.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTCATTC	NONE	.	.	hmmpanther:PTHR14482:SF0,hmmpanther:PTHR14482	.	.	ENSP00000288757	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000288757	Transcript	.	.	ENSG00000157895	25719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.11)	.	CL043_HUMAN	C12orf43	HGNC	E7ENF1_HUMAN	.	UPI000006ED81	SNV	C12orf43,missense_variant,p.Glu68Val,ENST00000536407,;C12orf43,missense_variant,p.Glu68Val,ENST00000539736,;C12orf43,missense_variant,p.Glu38Val,ENST00000445832,;C12orf43,missense_variant,p.Glu22Val,ENST00000535367,;C12orf43,missense_variant,p.Glu68Val,ENST00000288757,;C12orf43,missense_variant,p.Glu26Val,ENST00000366211,;C12orf43,missense_variant,p.Glu69Val,ENST00000537817,;C12orf43,missense_variant,p.Glu21Val,ENST00000546272,;C12orf43,intron_variant,,ENST00000538296,;C12orf43,3_prime_UTR_variant,,ENST00000539088,;C12orf43,non_coding_transcript_exon_variant,,ENST00000508193,;C12orf43,upstream_gene_variant,,ENST00000502891,;	226	112	137	SUCCESS
WNT5B	81029	.	GRCh37	12	1755095	1755095	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	32	0	ENST00000310594.3:c.757G>C	p.Ala253Pro	p.A253P	ENST00000310594	NM_030775.2	253	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS8510.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGGCCGCC	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF87,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000380379	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000397196	Transcript	.	.	ENSG00000111186	16265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	WNT5B_HUMAN	WNT5B	HGNC	F5H7Q6_HUMAN,F5H364_HUMAN,F5H034_HUMAN	.	UPI0000138F3C	SNV	WNT5B,missense_variant,p.Ala253Pro,ENST00000543071,;WNT5B,missense_variant,p.Ala253Pro,ENST00000537031,;WNT5B,missense_variant,p.Ala253Pro,ENST00000310594,;WNT5B,missense_variant,p.Ala253Pro,ENST00000397196,;WNT5B,3_prime_UTR_variant,,ENST00000542408,;WNT5B,non_coding_transcript_exon_variant,,ENST00000545747,;	989	32	40	SUCCESS
NCKAP1L	3071	.	GRCh37	12	54917217	54917223	+	frameshift_variant	Frame_Shift_Del	DEL	AAGAACA	AAGAACA	-	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	AAGAACA	AAGAACA	.	.	.	.	.	.	.	.	.	.	.	.	.	137	78	186	0	ENST00000293373.6:c.1919_1925del	p.Lys640ArgfsTer40	p.K640Rfs*40	ENST00000293373	NM_005337.4	640	AAGAACAag/ag	0	.	.	.	.	.	-	KNK/X	protein_coding	YES	CCDS31813.1	1918-1924	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAGCCAAGAACAAGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735	.	.	ENSP00000293373	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000293373	Transcript	.	.	ENSG00000123338	4862	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCKPL_HUMAN	NCKAP1L	HGNC	Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN	.	UPI00001C0439	deletion	NCKAP1L,frameshift_variant,p.Lys640ArgfsTer40,ENST00000293373,;NCKAP1L,frameshift_variant,p.Lys590ArgfsTer40,ENST00000545638,;NCKAP1L,3_prime_UTR_variant,,ENST00000548221,;NCKAP1L,downstream_gene_variant,,ENST00000549451,;	1997-2003	186	215	SUCCESS
PDE1B	5153	.	GRCh37	12	54969802	54969802	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	66	0	ENST00000243052.3:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000243052	NM_000924.3	432	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS8882.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCACATTC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF83,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000243052	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000243052	Transcript	.	.	ENSG00000123360	8775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated(0.34)	.	PDE1B_HUMAN	PDE1B	HGNC	Q7Z364_HUMAN,B4DK72_HUMAN,B3KX78_HUMAN	.	UPI0000001607	SNV	PDE1B,missense_variant,p.Thr391Ser,ENST00000538346,;PDE1B,missense_variant,p.Thr412Ser,ENST00000550620,;PDE1B,missense_variant,p.Thr432Ser,ENST00000243052,;PPP1R1A,3_prime_UTR_variant,,ENST00000547431,;PPP1R1A,downstream_gene_variant,,ENST00000553113,;PPP1R1A,downstream_gene_variant,,ENST00000257905,;PDE1B,non_coding_transcript_exon_variant,,ENST00000394277,;PDE1B,non_coding_transcript_exon_variant,,ENST00000542335,;PDE1B,3_prime_UTR_variant,,ENST00000550285,;PDE1B,non_coding_transcript_exon_variant,,ENST00000552774,;PDE1B,downstream_gene_variant,,ENST00000548855,;PPP1R1A,downstream_gene_variant,,ENST00000547826,;	1730	66	55	SUCCESS
RPL41	6171	.	GRCh37	12	56510435	56510435	+	5_prime_UTR_variant	5'UTR	DEL	T	T	-	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	45	0	ENST00000501597.3:c.-16del		p.*6*	ENST00000501597	NM_021104.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44919.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGCCATTTTTT	NONE	.	.	.	.	.	ENSP00000449026	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000546591	Transcript	.	.	ENSG00000229117	10354	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RL41_HUMAN	RPL41	HGNC	.	.	UPI0000000DDF	deletion	RPL41,5_prime_UTR_variant,,ENST00000546591,;RPL41,5_prime_UTR_variant,,ENST00000501597,;ZC3H10,upstream_gene_variant,,ENST00000257940,;ZC3H10,upstream_gene_variant,,ENST00000546903,;PA2G4,downstream_gene_variant,,ENST00000552766,;ZC3H10,upstream_gene_variant,,ENST00000551880,;PA2G4,downstream_gene_variant,,ENST00000303305,;ESYT1,upstream_gene_variant,,ENST00000551790,;ZC3H10,upstream_gene_variant,,ENST00000552345,;RP11-603J24.5,downstream_gene_variant,,ENST00000549438,;RP11-603J24.5,downstream_gene_variant,,ENST00000550947,;RP11-603J24.6,downstream_gene_variant,,ENST00000550840,;RP11-603J24.17,upstream_gene_variant,,ENST00000548595,;RPL41,non_coding_transcript_exon_variant,,ENST00000358888,;RPL41,non_coding_transcript_exon_variant,,ENST00000546485,;RPL41,upstream_gene_variant,,ENST00000546654,;ZC3H10,upstream_gene_variant,,ENST00000549973,;RPL41,upstream_gene_variant,,ENST00000552314,;	66	45	87	SUCCESS
PAN2	9924	.	GRCh37	12	56720131	56720131	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	69	0	ENST00000425394.2:c.1325A>T	p.Tyr442Phe	p.Y442F	ENST00000425394	NM_001127460.2	442	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS44922.1	1325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCATAGCCA	NONE	.	.	hmmpanther:PTHR15728,hmmpanther:PTHR15728:SF0	.	.	ENSP00000401721	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000425394	Transcript	.	.	ENSG00000135473	20074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PAN2_HUMAN	PAN2	HGNC	F8VXK8_HUMAN	.	UPI0000577D0A	SNV	PAN2,missense_variant,p.Tyr442Phe,ENST00000425394,;PAN2,missense_variant,p.Tyr442Phe,ENST00000440411,;PAN2,missense_variant,p.Tyr442Phe,ENST00000257931,;PAN2,missense_variant,p.Tyr442Phe,ENST00000548043,;PAN2,downstream_gene_variant,,ENST00000547572,;PAN2,non_coding_transcript_exon_variant,,ENST00000550555,;PAN2,non_coding_transcript_exon_variant,,ENST00000549073,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547994,;PAN2,upstream_gene_variant,,ENST00000547226,;PAN2,upstream_gene_variant,,ENST00000548982,;PAN2,upstream_gene_variant,,ENST00000552630,;PAN2,upstream_gene_variant,,ENST00000552868,;PAN2,upstream_gene_variant,,ENST00000550028,;PAN2,upstream_gene_variant,,ENST00000549348,;PAN2,downstream_gene_variant,,ENST00000547518,;	1702	69	109	SUCCESS
LRIG3	121227	.	GRCh37	12	59307787	59307787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1454191094	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	46	0	ENST00000320743.3:c.359C>T	p.Ser120Leu	p.S120L	ENST00000320743	NM_153377.4	120	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS8960.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGAGACT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000326759	.	3/19	.	.	.	.	.	.	.	.	COSM3417048,COSM3417049	3/19	PASS	ENST00000320743	Transcript	.	.	ENSG00000139263	30991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.006)	.	tolerated(0.21)	1,1	LRIG3_HUMAN	LRIG3	HGNC	F8VYZ5_HUMAN	.	UPI0000035BB5	SNV	LRIG3,missense_variant,p.Ser60Leu,ENST00000379141,;LRIG3,missense_variant,p.Ser120Leu,ENST00000320743,;LRIG3,missense_variant,p.Ser27Leu,ENST00000552267,;LRIG3,missense_variant,p.Ser120Leu,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000548968,;	646	46	64	SUCCESS
MLF2	8079	.	GRCh37	12	6859471	6859471	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	45	0	ENST00000203630.5:c.271G>T	p.Glu91Ter	p.E91*	ENST00000203630		91	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8559.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTCCTGAG	NONE	.	.	hmmpanther:PTHR13105,hmmpanther:PTHR13105:SF4,Pfam_domain:PF10248	.	.	ENSP00000203630	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000203630	Transcript	.	.	ENSG00000089693	7126	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLF2_HUMAN	MLF2	HGNC	Q5U0N1_HUMAN,F5H800_HUMAN,F5H7L5_HUMAN	.	UPI000012F1FA	SNV	MLF2,stop_gained,p.Glu91Ter,ENST00000540710,;MLF2,stop_gained,p.Glu91Ter,ENST00000542154,;MLF2,stop_gained,p.Glu91Ter,ENST00000203630,;MLF2,stop_gained,p.Glu91Ter,ENST00000539187,;MLF2,stop_gained,p.Glu91Ter,ENST00000537126,;MLF2,stop_gained,p.Glu91Ter,ENST00000435120,;MLF2,downstream_gene_variant,,ENST00000536207,;MLF2,downstream_gene_variant,,ENST00000564181,;MLF2,non_coding_transcript_exon_variant,,ENST00000541305,;MLF2,non_coding_transcript_exon_variant,,ENST00000541346,;MLF2,downstream_gene_variant,,ENST00000536249,;	916	45	48	SUCCESS
MLF2	8079	.	GRCh37	12	6859472	6859472	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	45	0	ENST00000203630.5:c.271-1G>C		p.X91_splice	ENST00000203630		91		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8559.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCTGAGG	NONE	.	.	.	.	.	ENSP00000203630	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000203630	Transcript	.	.	ENSG00000089693	7126	.	.	HIGH	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLF2_HUMAN	MLF2	HGNC	Q5U0N1_HUMAN,F5H800_HUMAN,F5H7L5_HUMAN	.	UPI000012F1FA	SNV	MLF2,splice_acceptor_variant,,ENST00000540710,;MLF2,splice_acceptor_variant,,ENST00000542154,;MLF2,splice_acceptor_variant,,ENST00000203630,;MLF2,splice_acceptor_variant,,ENST00000539187,;MLF2,splice_acceptor_variant,,ENST00000537126,;MLF2,splice_acceptor_variant,,ENST00000435120,;MLF2,downstream_gene_variant,,ENST00000536207,;MLF2,downstream_gene_variant,,ENST00000564181,;MLF2,non_coding_transcript_exon_variant,,ENST00000541305,;MLF2,non_coding_transcript_exon_variant,,ENST00000541346,;MLF2,downstream_gene_variant,,ENST00000536249,;	.	45	48	SUCCESS
LGR5	8549	.	GRCh37	12	71978147	71978147	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	114	2	ENST00000266674.5:c.2357C>A	p.Ser786Tyr	p.S786Y	ENST00000266674	NM_001277226.1	786	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS9000.1	2357	RADIA|SOMATICSNIPER|VARSCANS	.	CTTGTCCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24367:SF259,hmmpanther:PTHR24367,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000266674	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000266674	Transcript	.	.	ENSG00000139292	4504	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	LGR5_HUMAN	LGR5	HGNC	.	.	UPI000004B65C	SNV	LGR5,missense_variant,p.Ser714Tyr,ENST00000536515,;LGR5,missense_variant,p.Ser786Tyr,ENST00000266674,;LGR5,missense_variant,p.Ser762Tyr,ENST00000540815,;RP11-186F10.2,upstream_gene_variant,,ENST00000546601,;LGR5,intron_variant,,ENST00000550851,;	2668	116	118	SUCCESS
A2ML1	144568	.	GRCh37	12	9004828	9004828	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758305694	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	88	0	ENST00000299698.7:c.2486C>T	p.Ser829Leu	p.S829L	ENST00000299698	NM_144670.4	829	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS8596.2	2486	MUTECT|MUSE	.	TAAATCGCATG	NONE	byFrequency	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412,Superfamily_domains:SSF81296	.	.	ENSP00000299698	.	20/36	.	.	.	.	.	.	.	.	rs758305694	20/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.429)	.	deleterious(0.03)	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,missense_variant,p.Ser829Leu,ENST00000299698,;A2ML1,missense_variant,p.Ser379Leu,ENST00000541459,;A2ML1,missense_variant,p.Ser338Leu,ENST00000539547,;A2ML1,downstream_gene_variant,,ENST00000545692,;A2ML1,downstream_gene_variant,,ENST00000540049,;	2666	88	93	SUCCESS
MYO16	23026	.	GRCh37	13	109644729	109644729	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	32	82	0	ENST00000356711.2:c.2309del	p.Gln770ArgfsTer28	p.Q770Rfs*28	ENST00000356711	NM_015011.1	770	cAg/cg	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS32008.1	2309	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATGCAGACAT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000349145	.	21/35	.	.	.	.	.	.	.	.	.	21/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	deletion	MYO16,frameshift_variant,p.Gln282ArgfsTer28,ENST00000457511,;MYO16,frameshift_variant,p.Gln770ArgfsTer28,ENST00000251041,;MYO16,frameshift_variant,p.Gln770ArgfsTer28,ENST00000356711,;MYO16,frameshift_variant,p.Gln770ArgfsTer28,ENST00000357550,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	2435	82	118	SUCCESS
ATP12A	479	.	GRCh37	13	25255721	25255721	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	230	13	209	0	ENST00000381946.3:c.31G>A	p.Val11Met	p.V11M	ENST00000381946		11	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS53858.1	31	MUTECT|MUSE	.	ACTCCGTGGAG	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282	.	.	ENSP00000218548	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.852)	.	deleterious_low_confidence(0)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Val11Met,ENST00000218548,;ATP12A,missense_variant,p.Val11Met,ENST00000381946,;	364	209	243	SUCCESS
RXFP2	122042	.	GRCh37	13	32348772	32348772	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	72	1	ENST00000298386.2:c.513T>C	p.Asn171=	p.N171=	ENST00000298386	NM_130806.3	171	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS9342.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAATTGCAT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF226,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000298386	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000298386	Transcript	.	.	ENSG00000133105	17318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RXFP2_HUMAN	RXFP2	HGNC	.	.	UPI0000049589	SNV	RXFP2,synonymous_variant,p.%3D,ENST00000380314,;RXFP2,synonymous_variant,p.%3D,ENST00000298386,;	584	73	71	SUCCESS
KLHL1	57626	.	GRCh37	13	70314528	70314528	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	31	52	0	ENST00000377844.4:c.1800C>A		p.X600_splice	ENST00000377844	NM_020866.2	600	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9445.1	1800	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TACTTGCCATT	NONE	.	.	hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000367075	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,synonymous_variant,p.%3D,ENST00000545028,;KLHL1,synonymous_variant,p.%3D,ENST00000377844,;	2560	52	47	SUCCESS
SALL2	6297	.	GRCh37	14	22005097	22005097	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	48	71	0	ENST00000327430.3:c.-42A>G		p.*14*	ENST00000327430	NM_005407.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32045.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTTGGTCT	NONE	.	.	.	.	.	ENSP00000333537	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000327430	Transcript	.	.	ENSG00000165821	10526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL2_HUMAN	SALL2	HGNC	F5H1G6_HUMAN	.	UPI00001AF54D	SNV	SALL2,splice_region_variant,,ENST00000541965,;SALL2,5_prime_UTR_variant,,ENST00000327430,;SALL2,upstream_gene_variant,,ENST00000317492,;SALL2,upstream_gene_variant,,ENST00000546363,;	254	71	105	SUCCESS
RTN1	6252	.	GRCh37	14	60212848	60212848	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs774918300	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	103	0	ENST00000267484.5:c.593A>T	p.Asp198Val	p.D198V	ENST00000267484	NM_021136.2	198	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9740.1	593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGTCAATG	NONE	.	.	hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994	.	.	ENSP00000267484	.	2/9	.	.	.	.	.	.	.	.	rs774918300,COSM470081	2/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.979)	.	deleterious(0)	0,1	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,missense_variant,p.Asp198Val,ENST00000267484,;	929	103	103	SUCCESS
NRXN3	9369	.	GRCh37	14	79454468	79454468	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	48	2	ENST00000554719.1:c.2127A>C	p.Gly709=	p.G709=	ENST00000554719	NM_004796.5	709	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS9870.1	2127	SOMATICSNIPER|VARSCANS	.	TCTGGAAACCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,synonymous_variant,p.%3D,ENST00000554719,;NRXN3,synonymous_variant,p.%3D,ENST00000335750,;NRXN3,synonymous_variant,p.%3D,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	2618	50	64	SUCCESS
GOLGA5	9950	.	GRCh37	14	93301968	93301968	+	synonymous_variant	Silent	SNP	C	C	T	rs150818578	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	52	0	ENST00000163416.2:c.2010C>T	p.Tyr670=	p.Y670=	ENST00000163416	NM_005113.3	670	taC/taT	0	.	T:0	.	T:0	.	T	Y	protein_coding	YES	CCDS9905.1	2010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTACGGAAA	NONE	byCluster|by1000G	.	Pfam_domain:PF09787,hmmpanther:PTHR13815:SF5,hmmpanther:PTHR13815	T:0.001	.	ENSP00000163416	T:0	11/13	.	.	.	.	.	.	.	.	rs150818578	11/13	PASS	ENST00000163416	Transcript	1	T:0.0002	ENSG00000066455	4428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	GOGA5_HUMAN	GOLGA5	HGNC	.	.	UPI000013C5AA	SNV	GOLGA5,synonymous_variant,p.%3D,ENST00000355976,;GOLGA5,synonymous_variant,p.%3D,ENST00000554700,;GOLGA5,synonymous_variant,p.%3D,ENST00000163416,;	2266	52	72	SUCCESS
HERC2P3	283755	.	GRCh37	15	20649523	20649523	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	rs139845412	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	10	0	ENST00000428453.1:n.2676T>A		p.*892*	ENST00000428453				0	C:0.0005	.	.	.	.	T	.	processed_transcript	YES	.	.	MUSE|VARSCANS	.	TGTGCAGGGGC	NONE	byCluster	.	.	.	C:0	.	.	18/27	.	.	.	.	.	.	.	.	rs139845412	18/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440441,;HERC2P3,downstream_gene_variant,,ENST00000440774,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,upstream_gene_variant,,ENST00000436934,;HERC2P3,upstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	2676	10	21	SUCCESS
OR4M2	390538	.	GRCh37	15	22368845	22368845	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs750103133	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	50	172	0	ENST00000332663.2:c.270G>C	p.Lys90Asn	p.K90N	ENST00000332663	NM_001004719.2	90	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS32172.1	270	RADIA|MUTECT|MUSE	.	AGGAAGATAAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	rs750103133	1/1	PASS	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.959)	.	deleterious(0.01)	.	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,missense_variant,p.Lys90Asn,ENST00000332663,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	368	172	165	SUCCESS
OR4M2	390538	.	GRCh37	15	22369093	22369093	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	63	185	1	ENST00000332663.2:c.518A>T	p.Glu173Val	p.E173V	ENST00000332663	NM_001004719.2	173	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32172.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGAGTTAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.134)	.	tolerated(0.63)	.	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,missense_variant,p.Glu173Val,ENST00000332663,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	616	186	205	SUCCESS
APBA2	321	.	GRCh37	15	29346270	29346270	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	101	122	0	ENST00000558259.1:c.183G>A	p.Gln61=	p.Q61=	ENST00000558259	NM_005503.3	61	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS10022.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGGAGTG	NONE	.	.	hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12	.	.	ENSP00000453293	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,synonymous_variant,p.%3D,ENST00000558259,;APBA2,synonymous_variant,p.%3D,ENST00000561069,;APBA2,synonymous_variant,p.%3D,ENST00000560283,;APBA2,synonymous_variant,p.%3D,ENST00000558402,;APBA2,synonymous_variant,p.%3D,ENST00000558330,;APBA2,synonymous_variant,p.%3D,ENST00000558358,;APBA2,synonymous_variant,p.%3D,ENST00000558804,;APBA2,synonymous_variant,p.%3D,ENST00000411764,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	782	122	208	SUCCESS
TJP1	7082	.	GRCh37	15	30010667	30010667	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	65	97	1	ENST00000346128.6:c.3679A>G	p.Ile1227Val	p.I1227V	ENST00000346128	NM_175610.2	1227	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42007.1	3679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTATCAGCG	NONE	.	.	hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	.	.	ENSP00000281537	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.6)	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,missense_variant,p.Ile1227Val,ENST00000356107,;TJP1,missense_variant,p.Ile1151Val,ENST00000400011,;TJP1,missense_variant,p.Ile1227Val,ENST00000346128,;TJP1,missense_variant,p.Ile1147Val,ENST00000545208,;TJP1,downstream_gene_variant,,ENST00000561307,;	4154	98	148	SUCCESS
KNSTRN	90417	.	GRCh37	15	40675151	40675151	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	60	0	ENST00000249776.8:c.115C>T	p.Gln39Ter	p.Q39*	ENST00000249776	NM_033286.3	39	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS42021.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCAGGCG	NONE	.	.	hmmpanther:PTHR31940,hmmpanther:PTHR31940:SF2	.	.	ENSP00000249776	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000249776	Transcript	.	.	ENSG00000128944	30767	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKAP_HUMAN	KNSTRN	HGNC	.	.	UPI000016074A	SNV	KNSTRN,stop_gained,p.Gln39Ter,ENST00000448395,;KNSTRN,stop_gained,p.Gln39Ter,ENST00000416151,;KNSTRN,stop_gained,p.Gln39Ter,ENST00000249776,;KNSTRN,5_prime_UTR_variant,,ENST00000608100,;KNSTRN,upstream_gene_variant,,ENST00000557920,;KNSTRN,stop_gained,p.Gln5Ter,ENST00000560321,;KNSTRN,stop_gained,p.Gln39Ter,ENST00000560981,;KNSTRN,non_coding_transcript_exon_variant,,ENST00000559591,;KNSTRN,non_coding_transcript_exon_variant,,ENST00000559604,;KNSTRN,upstream_gene_variant,,ENST00000560220,;KNSTRN,upstream_gene_variant,,ENST00000559083,;KNSTRN,upstream_gene_variant,,ENST00000560673,;KNSTRN,upstream_gene_variant,,ENST00000559304,;KNSTRN,upstream_gene_variant,,ENST00000561196,;KNSTRN,upstream_gene_variant,,ENST00000561169,;	230	60	100	SUCCESS
SPG11	80208	.	GRCh37	15	44876651	44876651	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1419267108	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	45	94	0	ENST00000261866.7:c.5227A>G	p.Ile1743Val	p.I1743V	ENST00000261866	NM_025137.3	1743	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS10112.1	5227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAATTGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13650	.	.	ENSP00000261866	.	30/40	.	.	.	.	.	.	.	.	.	30/40	PASS	ENST00000261866	Transcript	1	.	ENSG00000104133	11226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	SPTCS_HUMAN	SPG11	HGNC	H0YN96_HUMAN,C4B7M3_HUMAN	.	UPI0000456840	SNV	SPG11,missense_variant,p.Ile1743Val,ENST00000535302,;SPG11,missense_variant,p.Ile26Val,ENST00000559511,;SPG11,missense_variant,p.Ile1743Val,ENST00000558319,;SPG11,missense_variant,p.Ile1743Val,ENST00000261866,;SPG11,missense_variant,p.Ile1743Val,ENST00000427534,;SPG11,non_coding_transcript_exon_variant,,ENST00000558790,;SPG11,downstream_gene_variant,,ENST00000558253,;SPG11,upstream_gene_variant,,ENST00000559822,;SPG11,downstream_gene_variant,,ENST00000558155,;SPG11,downstream_gene_variant,,ENST00000560858,;	5244	94	86	SUCCESS
DUOX2	50506	.	GRCh37	15	45404147	45404147	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	83	149	0	ENST00000603300.1:c.332A>G	p.His111Arg	p.H111R	ENST00000603300	NM_014080.4	111	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS10117.1	332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATGGTAG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000475084	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.His111Arg,ENST00000389039,;DUOX2,missense_variant,p.His111Arg,ENST00000603300,;DUOXA2,upstream_gene_variant,,ENST00000323030,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOXA2,upstream_gene_variant,,ENST00000350243,;DUOXA2,upstream_gene_variant,,ENST00000491993,;	535	149	178	SUCCESS
RASGRF1	5923	.	GRCh37	15	79277244	79277244	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	13	0	ENST00000419573.3:c.3462+105T>A		p.*1154*	ENST00000419573	NM_002891.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGTACT	NONE	.	.	.	.	.	ENSP00000405963	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODIFIER	24/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,intron_variant,,ENST00000558480,;RASGRF1,intron_variant,,ENST00000419573,;RASGRF1,intron_variant,,ENST00000394745,;RP11-16K12.1,non_coding_transcript_exon_variant,,ENST00000316148,;RASGRF1,intron_variant,,ENST00000560334,;RASGRF1,intron_variant,,ENST00000560286,;RASGRF1,intron_variant,,ENST00000560943,;	.	13	22	SUCCESS
CRTC3	64784	.	GRCh37	15	91181991	91181991	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	79	0	ENST00000268184.6:c.1492C>T	p.Pro498Ser	p.P498S	ENST00000268184		498	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32331.1	1492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCCAGAT	NONE	.	.	hmmpanther:PTHR13589,hmmpanther:PTHR13589:SF4	.	.	ENSP00000268184	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000268184	Transcript	.	.	ENSG00000140577	26148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.3)	.	CRTC3_HUMAN	CRTC3	HGNC	.	.	UPI00001FEB98	SNV	CRTC3,missense_variant,p.Pro498Ser,ENST00000268184,;CRTC3,missense_variant,p.Pro498Ser,ENST00000420329,;RP11-387D10.2,intron_variant,,ENST00000559531,;CRTC3,downstream_gene_variant,,ENST00000558167,;HSPE1P3,downstream_gene_variant,,ENST00000559254,;	1496	79	86	SUCCESS
SPNS1	83985	.	GRCh37	16	28986482	28986482	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	38	0	ENST00000311008.11:c.10T>C	p.Ser4Pro	p.S4P	ENST00000311008	NM_032038.2	4	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS10646.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGTCCGAC	NONE	.	.	hmmpanther:PTHR24001,hmmpanther:PTHR24001:SF3	.	.	ENSP00000309945	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000311008	Transcript	.	.	ENSG00000169682	30621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.28)	.	SPNS1_HUMAN	SPNS1	HGNC	H3BT44_HUMAN,H3BP14_HUMAN	.	UPI000004DB99	SNV	SPNS1,missense_variant,p.Ser4Pro,ENST00000567771,;SPNS1,missense_variant,p.Ser4Pro,ENST00000311008,;SPNS1,missense_variant,p.Ser4Pro,ENST00000352260,;SPNS1,missense_variant,p.Ser49Pro,ENST00000565975,;SPNS1,missense_variant,p.Ser4Pro,ENST00000334536,;SPNS1,intron_variant,,ENST00000323081,;SPNS1,intron_variant,,ENST00000568388,;SPNS1,upstream_gene_variant,,ENST00000568829,;SPNS1,upstream_gene_variant,,ENST00000564476,;SPNS1,upstream_gene_variant,,ENST00000566059,;RP11-264B17.4,intron_variant,,ENST00000567209,;SPNS1,upstream_gene_variant,,ENST00000561868,;SPNS1,non_coding_transcript_exon_variant,,ENST00000568900,;RP11-264B17.3,intron_variant,,ENST00000569969,;	387	38	36	SUCCESS
SLX4	84464	.	GRCh37	16	3647563	3647563	+	synonymous_variant	Silent	SNP	C	C	A	rs747483922	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	47	85	0	ENST00000294008.3:c.1500G>T	p.Thr500=	p.T500=	ENST00000294008	NM_032444.2	500	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10506.2	1500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCGTGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21541	.	.	ENSP00000294008	.	7/15	.	.	.	.	.	.	.	.	rs747483922,COSM3948540	7/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,synonymous_variant,p.%3D,ENST00000294008,;SLX4,non_coding_transcript_exon_variant,,ENST00000466154,;SLX4,downstream_gene_variant,,ENST00000486524,;	2141	85	101	SUCCESS
TANGO6	79613	.	GRCh37	16	68894026	68894026	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	107	0	ENST00000261778.1:c.334C>T	p.Leu112Phe	p.L112F	ENST00000261778	NM_024562.1	112	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS45516.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCCTTGCA	NONE	.	.	hmmpanther:PTHR20959:SF1,hmmpanther:PTHR20959	.	.	ENSP00000261778	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000261778	Transcript	.	.	ENSG00000103047	25749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.08)	.	TNG6_HUMAN	TANGO6	HGNC	B3KTB6_HUMAN	.	UPI00001FF4A8	SNV	TANGO6,missense_variant,p.Leu112Phe,ENST00000261778,;TANGO6,non_coding_transcript_exon_variant,,ENST00000564180,;TANGO6,upstream_gene_variant,,ENST00000561566,;	346	107	107	SUCCESS
NQO1	1728	.	GRCh37	16	69752318	69752318	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	78	0	ENST00000320623.5:c.127T>G	p.Tyr43Asp	p.Y43D	ENST00000320623	NM_000903.2	43	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS10883.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATAGAGGT	NONE	.	.	hmmpanther:PTHR10204,hmmpanther:PTHR10204:SF1,Pfam_domain:PF02525,Gene3D:3.40.50.360,Superfamily_domains:SSF52218	.	.	ENSP00000319788	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000320623	Transcript	.	.	ENSG00000181019	2874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NQO1_HUMAN	NQO1	HGNC	H3BNV2_HUMAN	.	UPI0000000C86	SNV	NQO1,missense_variant,p.Tyr43Asp,ENST00000379047,;NQO1,missense_variant,p.Tyr43Asp,ENST00000320623,;NQO1,missense_variant,p.Tyr43Asp,ENST00000379046,;NQO1,missense_variant,p.Tyr43Asp,ENST00000561500,;NQO1,missense_variant,p.Tyr22Asp,ENST00000564043,;NQO1,missense_variant,p.Tyr43Asp,ENST00000439109,;NQO1,non_coding_transcript_exon_variant,,ENST00000569118,;	639	78	88	SUCCESS
PDPR	55066	.	GRCh37	16	70190675	70190675	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199510800	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	21	97	0	ENST00000288050.4:c.2533G>A	p.Ala845Thr	p.A845T	ENST00000288050	NM_017990.3	845	Gcg/Acg	0	A:0.0002	A:0	.	A:0.0014	.	A	A/T	protein_coding	YES	CCDS45520.1	2533	RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGCGGGA	NONE	byCluster|by1000G	.	Gene3D:2.40.30.110,Pfam_domain:PF08669,Superfamily_domains:SSF101790	A:0	A:0	ENSP00000288050	A:0	19/19	.	.	.	.	.	.	.	.	rs199510800	19/19	PASS	ENST00000288050	Transcript	.	A:0.0002	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	A:0	deleterious(0)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Ala190Thr,ENST00000542659,;PDPR,missense_variant,p.Ala845Thr,ENST00000288050,;PDPR,missense_variant,p.Ala745Thr,ENST00000398122,;PDPR,missense_variant,p.Ala845Thr,ENST00000568530,;PDPR,missense_variant,p.Ala203Thr,ENST00000567046,;PDPR,downstream_gene_variant,,ENST00000563930,;PDPR,downstream_gene_variant,,ENST00000569042,;PDPR,downstream_gene_variant,,ENST00000567896,;RP11-296I10.3,intron_variant,,ENST00000566989,;RP11-296I10.3,downstream_gene_variant,,ENST00000502126,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,3_prime_UTR_variant,,ENST00000565186,;PDPR,3_prime_UTR_variant,,ENST00000564563,;	3490	97	145	SUCCESS
FA2H	79152	.	GRCh37	16	74752917	74752917	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	62	0	ENST00000219368.3:c.755T>A	p.Leu252Gln	p.L252Q	ENST00000219368	NM_024306.4	252	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS10911.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCAGCATG	NONE	.	.	hmmpanther:PTHR12863,Pfam_domain:PF04116,PIRSF_domain:PIRSF005149	.	.	ENSP00000219368	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000219368	Transcript	.	.	ENSG00000103089	21197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	FA2H_HUMAN	FA2H	HGNC	B7Z8T6_HUMAN	.	UPI000013C77C	SNV	FA2H,missense_variant,p.Leu39Gln,ENST00000544337,;FA2H,missense_variant,p.Leu252Gln,ENST00000219368,;FA2H,missense_variant,p.Leu186Gln,ENST00000569949,;FA2H,3_prime_UTR_variant,,ENST00000567683,;FA2H,upstream_gene_variant,,ENST00000562145,;	825	62	74	SUCCESS
WFDC1	58189	.	GRCh37	16	84328534	84328534	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs780440065	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	41	0	ENST00000219454.5:c.-44C>G		p.*15*	ENST00000219454	NM_001282467.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10946.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCCCTC	NONE	byFrequency	.	.	.	.	ENSP00000219454	.	1/7	.	.	.	.	.	.	.	.	rs780440065	1/7	PASS	ENST00000219454	Transcript	.	.	ENSG00000103175	15466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WFDC1_HUMAN	WFDC1	HGNC	.	.	UPI0000138EFA	SNV	WFDC1,5_prime_UTR_variant,,ENST00000219454,;WFDC1,5_prime_UTR_variant,,ENST00000568638,;RP11-558A11.2,downstream_gene_variant,,ENST00000569200,;	283	41	36	SUCCESS
TBC1D3G	101060321	.	GRCh37	17	34803368	34803368	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1223590700	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	72	0	ENST00000341264.6:c.451G>A	p.Gly151Arg	p.G151R	ENST00000341264	NM_001040282.2	151	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS32629.1	451	RADIA|VARSCANS	.	TGTCCCGCTTA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000345014	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000341264	Transcript	.	.	ENSG00000161583	29860	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(1)	.	TBC3G_HUMAN	TBC1D3G	HGNC	K7EPE3_HUMAN,K7EIT9_HUMAN,F5GYN8_HUMAN	.	UPI000023769F	SNV	TBC1D3G,missense_variant,p.Gly151Arg,ENST00000330458,;TBC1D3G,missense_variant,p.Gly71Arg,ENST00000535805,;TBC1D3G,missense_variant,p.Gly151Arg,ENST00000394453,;TBC1D3G,missense_variant,p.Gly151Arg,ENST00000341264,;TBC1D3G,missense_variant,p.Gly212Arg,ENST00000591542,;TBC1D3G,missense_variant,p.Gly151Arg,ENST00000535592,;TBC1D3G,missense_variant,p.Gly151Arg,ENST00000592614,;TBC1D3H,intron_variant,,ENST00000400684,;TBC1D3H,intron_variant,,ENST00000535446,;TBC1D3G,downstream_gene_variant,,ENST00000592987,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000587756,;TBC1D3G,downstream_gene_variant,,ENST00000589650,;TBC1D3G,downstream_gene_variant,,ENST00000588834,;TBC1D3G,3_prime_UTR_variant,,ENST00000590913,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000589602,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000588999,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000589896,;TBC1D3G,non_coding_transcript_exon_variant,,ENST00000589513,;TBC1D3G,downstream_gene_variant,,ENST00000586554,;TBC1D3G,downstream_gene_variant,,ENST00000591233,;TBC1D3G,upstream_gene_variant,,ENST00000587378,;	608	72	73	SUCCESS
XYLT2	64132	.	GRCh37	17	48435884	48435884	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	78	1	ENST00000017003.2:c.2258A>T	p.Lys753Ile	p.K753I	ENST00000017003	NM_022167.2	753	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS11563.1	2258	RADIA|MUTECT|MUSE	.	CCGCAAACTAC	NONE	.	.	.	.	.	ENSP00000017003	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000017003	Transcript	.	.	ENSG00000015532	15517	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.878)	.	deleterious(0.03)	.	XYLT2_HUMAN	XYLT2	HGNC	.	.	UPI000013C536	SNV	XYLT2,missense_variant,p.Lys753Ile,ENST00000017003,;XYLT2,intron_variant,,ENST00000507602,;XYLT2,downstream_gene_variant,,ENST00000574840,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,3_prime_UTR_variant,,ENST00000376550,;XYLT2,upstream_gene_variant,,ENST00000571021,;XYLT2,downstream_gene_variant,,ENST00000511654,;	2307	79	86	SUCCESS
XYLT2	64132	.	GRCh37	17	48435895	48435895	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	65	1	ENST00000017003.2:c.2269A>G	p.Arg757Gly	p.R757G	ENST00000017003	NM_022167.2	757	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS11563.1	2269	RADIA|MUTECT|MUSE	.	CTCTCAGGAAA	NONE	.	.	.	.	.	ENSP00000017003	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000017003	Transcript	.	.	ENSG00000015532	15517	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.022)	.	tolerated(0.11)	.	XYLT2_HUMAN	XYLT2	HGNC	.	.	UPI000013C536	SNV	XYLT2,missense_variant,p.Arg757Gly,ENST00000017003,;XYLT2,intron_variant,,ENST00000507602,;XYLT2,downstream_gene_variant,,ENST00000574840,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,3_prime_UTR_variant,,ENST00000376550,;XYLT2,upstream_gene_variant,,ENST00000571021,;XYLT2,downstream_gene_variant,,ENST00000511654,;	2318	66	79	SUCCESS
EME1	146956	.	GRCh37	17	48457826	48457826	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	62	0	ENST00000338165.4:c.1500T>C	p.Val500=	p.V500=	ENST00000338165	NM_152463.2	500	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS54141.1	1539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTTGTGAA	NONE	.	.	hmmpanther:PTHR21077:SF3,hmmpanther:PTHR21077,SMART_domains:SM00891	.	.	ENSP00000376952	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000393271	Transcript	.	.	ENSG00000154920	24965	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EME1_HUMAN	EME1	HGNC	D6RIT8_HUMAN	.	UPI00001AEAC6	SNV	EME1,synonymous_variant,p.%3D,ENST00000511648,;EME1,synonymous_variant,p.%3D,ENST00000393271,;EME1,synonymous_variant,p.%3D,ENST00000510246,;EME1,synonymous_variant,p.%3D,ENST00000338165,;LRRC59,intron_variant,,ENST00000503118,;EME1,downstream_gene_variant,,ENST00000511519,;LRRC59,downstream_gene_variant,,ENST00000225972,;EME1,non_coding_transcript_exon_variant,,ENST00000507616,;EME1,downstream_gene_variant,,ENST00000514211,;EME1,downstream_gene_variant,,ENST00000510007,;EME1,downstream_gene_variant,,ENST00000513077,;EME1,downstream_gene_variant,,ENST00000511711,;	1621	62	79	SUCCESS
GRIN2C	2905	.	GRCh37	17	72838940	72838940	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	19	0	ENST00000293190.5:c.3336G>C	p.Ser1112=	p.S1112=	ENST00000293190	NM_000835.4	1112	tcG/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS32724.1	3336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGAGTG	NONE	.	.	.	.	.	ENSP00000293190	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000293190	Transcript	.	.	ENSG00000161509	4587	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE3_HUMAN	GRIN2C	HGNC	.	.	UPI00001AEBA4	SNV	GRIN2C,synonymous_variant,p.%3D,ENST00000293190,;TMEM104,downstream_gene_variant,,ENST00000582330,;TMEM104,downstream_gene_variant,,ENST00000582773,;TMEM104,downstream_gene_variant,,ENST00000335464,;GRIN2C,downstream_gene_variant,,ENST00000347612,;TMEM104,downstream_gene_variant,,ENST00000417024,;TMEM104,downstream_gene_variant,,ENST00000584171,;GRIN2C,downstream_gene_variant,,ENST00000584176,;	3483	19	44	SUCCESS
SPEM1	374768	.	GRCh37	17	7324364	7324364	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	65	0	ENST00000323675.3:c.370T>A	p.Cys124Ser	p.C124S	ENST00000323675	NM_199339.2	124	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS42254.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTGCCCA	NONE	.	.	.	.	.	ENSP00000315554	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000323675	Transcript	.	.	ENSG00000181323	32429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.58)	.	SPEM1_HUMAN	SPEM1	HGNC	.	.	UPI000006DD8B	SNV	SPEM1,missense_variant,p.Cys124Ser,ENST00000323675,;C17orf74,upstream_gene_variant,,ENST00000333870,;NLGN2,downstream_gene_variant,,ENST00000302926,;NLGN2,downstream_gene_variant,,ENST00000575301,;C17orf74,upstream_gene_variant,,ENST00000574034,;RP11-104H15.7,intron_variant,,ENST00000575310,;	395	65	99	SUCCESS
RPTOR	57521	.	GRCh37	17	78797057	78797057	+	intron_variant	Intron	DEL	C	C	-	rs760721593	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	31	0	ENST00000306801.3:c.1136+38del		p.*379*	ENST00000306801	NM_020761.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11773.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTGCTCCCCCG	NONE	.	.	.	.	.	ENSP00000307272	.	.	.	.	.	.	.	.	.	.	rs760721593	.	PASS	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	4	.	MODIFIER	9/33	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	deletion	RPTOR,3_prime_UTR_variant,,ENST00000570891,;RPTOR,intron_variant,,ENST00000537330,;RPTOR,intron_variant,,ENST00000544334,;RPTOR,intron_variant,,ENST00000306801,;RPTOR,intron_variant,,ENST00000575542,;RPTOR,intron_variant,,ENST00000577161,;RPTOR,intron_variant,,ENST00000574767,;	.	31	44	SUCCESS
FOXK2	3607	.	GRCh37	17	80529707	80529707	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	116	0	ENST00000335255.5:c.870A>C	p.Lys290Asn	p.K290N	ENST00000335255	NM_004514.3	290	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS11813.1	870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAAAAATTA	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF106,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000335677	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000335255	Transcript	.	.	ENSG00000141568	6036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FOXK2_HUMAN	FOXK2	HGNC	E9PM37_HUMAN	.	UPI00001A8BEE	SNV	FOXK2,missense_variant,p.Lys290Asn,ENST00000335255,;FOXK2,missense_variant,p.Lys170Asn,ENST00000526383,;FOXK2,missense_variant,p.Lys101Asn,ENST00000531030,;FOXK2,missense_variant,p.Lys290Asn,ENST00000473637,;FOXK2,non_coding_transcript_exon_variant,,ENST00000570585,;FOXK2,non_coding_transcript_exon_variant,,ENST00000527313,;RP13-638C3.6,downstream_gene_variant,,ENST00000581815,;	1044	116	138	SUCCESS
RIOK3	8780	.	GRCh37	18	21053404	21053404	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1200931755	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	123	236	0	ENST00000339486.3:c.827A>G	p.Glu276Gly	p.E276G	ENST00000339486	NM_003831.3	276	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS11877.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGAAAAGG	NONE	.	.	hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF22,Pfam_domain:PF01163,Gene3D:3.30.200.20,PIRSF_domain:PIRSF038146,SMART_domains:SM00090,Superfamily_domains:SSF56112	.	.	ENSP00000341874	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000339486	Transcript	.	.	ENSG00000101782	11451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	RIOK3_HUMAN	RIOK3	HGNC	B0YJ89_HUMAN	.	UPI000013C732	SNV	RIOK3,missense_variant,p.Glu276Gly,ENST00000577501,;RIOK3,missense_variant,p.Glu260Gly,ENST00000581585,;RIOK3,missense_variant,p.Glu276Gly,ENST00000339486,;RIOK3,upstream_gene_variant,,ENST00000577250,;RIOK3,missense_variant,p.Glu95Gly,ENST00000584130,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581339,;	1444	236	278	SUCCESS
DTNA	1837	.	GRCh37	18	32418754	32418754	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	118	0	ENST00000399113.3:c.1218T>G	p.His406Gln	p.H406Q	ENST00000399113		406	caT/caG	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59312.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATGTTCT	NONE	.	.	.	.	.	ENSP00000470152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000598334	Transcript	.	.	ENSG00000134769	3057	.	.	MODIFIER	11/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DTNA	HGNC	M0QYX6_HUMAN,K7ERZ2_HUMAN,K7ERH7_HUMAN,K7ER73_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN	.	UPI0001E92A2F	SNV	DTNA,missense_variant,p.His406Gln,ENST00000399113,;DTNA,missense_variant,p.His403Gln,ENST00000348997,;DTNA,missense_variant,p.His406Gln,ENST00000444659,;DTNA,missense_variant,p.His407Gln,ENST00000269190,;DTNA,missense_variant,p.His406Gln,ENST00000269191,;DTNA,missense_variant,p.His115Gln,ENST00000269192,;DTNA,intron_variant,,ENST00000598334,;DTNA,intron_variant,,ENST00000598774,;DTNA,intron_variant,,ENST00000597599,;DTNA,intron_variant,,ENST00000587723,;DTNA,intron_variant,,ENST00000597674,;DTNA,intron_variant,,ENST00000399121,;DTNA,intron_variant,,ENST00000556414,;DTNA,intron_variant,,ENST00000591182,;DTNA,intron_variant,,ENST00000596745,;DTNA,intron_variant,,ENST00000598142,;DTNA,intron_variant,,ENST00000599844,;DTNA,intron_variant,,ENST00000595022,;DTNA,intron_variant,,ENST00000601125,;DTNA,intron_variant,,ENST00000283365,;DTNA,intron_variant,,ENST00000399097,;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;DTNA,intron_variant,,ENST00000601895,;	.	118	129	SUCCESS
ZSCAN30	100101467	.	GRCh37	18	32834231	32834231	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749290517	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	101	1	ENST00000333206.5:c.668G>T	p.Arg223Leu	p.R223L	ENST00000333206	NM_001112734.2	223	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS42427.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCCGTTGG	NONE	byFrequency	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF47	.	.	ENSP00000392371	.	5/5	.	.	.	.	.	.	.	.	rs749290517,COSM1388564,COSM1388563	5/5	PASS	ENST00000420878	Transcript	.	.	ENSG00000186814	33517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0)	.	tolerated(0.32)	0,1,1	ZSC30_HUMAN	ZSCAN30	HGNC	K7ERA9_HUMAN,K7EPB0_HUMAN	.	UPI00001867D6	SNV	ZNF397,missense_variant,p.Arg228Ser,ENST00000261333,;ZNF397,missense_variant,p.Arg198Ser,ENST00000355632,;ZSCAN30,missense_variant,p.Arg223Leu,ENST00000420878,;ZSCAN30,missense_variant,p.Arg223Leu,ENST00000333206,;ZNF397,intron_variant,,ENST00000592264,;ZNF397,non_coding_transcript_exon_variant,,ENST00000589420,;ZNF397,non_coding_transcript_exon_variant,,ENST00000591505,;ZSCAN30,non_coding_transcript_exon_variant,,ENST00000590777,;	1124	102	108	SUCCESS
TXNDC2	84203	.	GRCh37	18	9886755	9886755	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	11	122	0	ENST00000306084.6:c.279A>C	p.Ser93=	p.S93=	ENST00000306084	NM_001098529.1	93	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS42414.1	279	MUTECT|MUSE	.	TCCTCAGCAAA	NONE	.	.	Pfam_domain:PF03157	.	.	ENSP00000304908	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306084	Transcript	.	.	ENSG00000168454	16470	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TXND2_HUMAN	TXNDC2	HGNC	F5H6S7_HUMAN	.	UPI000013EAE7	SNV	TXNDC2,synonymous_variant,p.%3D,ENST00000357775,;TXNDC2,synonymous_variant,p.%3D,ENST00000536353,;TXNDC2,synonymous_variant,p.%3D,ENST00000306084,;TXNDC2,synonymous_variant,p.%3D,ENST00000584255,;TXNDC2,non_coding_transcript_exon_variant,,ENST00000426718,;	478	122	153	SUCCESS
ZNF181	339318	.	GRCh37	19	35231867	35231867	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	182	328	1	ENST00000492450.1:c.581A>G	p.Lys194Arg	p.K194R	ENST00000492450		194	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS32990.2	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAAAAAGT	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110	.	.	ENSP00000420727	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000492450	Transcript	.	.	ENSG00000197841	12971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(0.14)	.	ZN181_HUMAN	ZNF181	HGNC	B4DM69_HUMAN	.	UPI000020207A	SNV	ZNF181,missense_variant,p.Lys194Arg,ENST00000492450,;ZNF181,missense_variant,p.Lys193Arg,ENST00000459757,;ZNF181,missense_variant,p.Lys238Arg,ENST00000392232,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	670	329	397	SUCCESS
AXL	558	.	GRCh37	19	41725279	41725279	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	124	227	0	ENST00000301178.4:c.-19T>A		p.*7*	ENST00000301178	NM_021913.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12575.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGAGGA	NONE	.	.	.	.	.	ENSP00000301178	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000301178	Transcript	.	.	ENSG00000167601	905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UFO_HUMAN	AXL	HGNC	Q15839_HUMAN,M0R0W6_HUMAN	.	UPI000013E6DB	SNV	AXL,5_prime_UTR_variant,,ENST00000359092,;AXL,5_prime_UTR_variant,,ENST00000301178,;CTD-2195B23.3,downstream_gene_variant,,ENST00000598541,;AXL,upstream_gene_variant,,ENST00000594880,;AXL,upstream_gene_variant,,ENST00000599659,;	172	227	290	SUCCESS
HIF3A	64344	.	GRCh37	19	46812565	46812565	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	64	2	ENST00000377670.4:c.719C>A	p.Ala240Asp	p.A240D	ENST00000377670	NM_152795.3	240	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS12681.2	719	SOMATICSNIPER|VARSCANS	.	AGGGGCCTTCC	NONE	.	.	hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,SMART_domains:SM00091	.	.	ENSP00000366898	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000377670	Transcript	.	.	ENSG00000124440	15825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.342)	.	deleterious(0)	.	HIF3A_HUMAN	HIF3A	HGNC	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN	.	UPI00002026E2	SNV	HIF3A,missense_variant,p.Ala171Asp,ENST00000472815,;HIF3A,missense_variant,p.Ala240Asp,ENST00000377670,;HIF3A,missense_variant,p.Ala238Asp,ENST00000300862,;HIF3A,missense_variant,p.Ala171Asp,ENST00000244303,;HIF3A,missense_variant,p.Ala189Asp,ENST00000420102,;HIF3A,missense_variant,p.Ala171Asp,ENST00000600383,;HIF3A,missense_variant,p.Ala184Asp,ENST00000339613,;HIF3A,downstream_gene_variant,,ENST00000533145,;RNU6-924P,upstream_gene_variant,,ENST00000362926,;HIF3A,non_coding_transcript_exon_variant,,ENST00000525854,;HIF3A,missense_variant,p.Ala30Asp,ENST00000531043,;HIF3A,3_prime_UTR_variant,,ENST00000528563,;HIF3A,non_coding_transcript_exon_variant,,ENST00000475432,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,downstream_gene_variant,,ENST00000533789,;HIF3A,downstream_gene_variant,,ENST00000529205,;HIF3A,downstream_gene_variant,,ENST00000526506,;HIF3A,downstream_gene_variant,,ENST00000600879,;	750	66	102	SUCCESS
UHRF1	29128	.	GRCh37	19	4910899	4910899	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	61	96	0	ENST00000592666.1:n.578T>C		p.*193*	ENST00000592666				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGTGGA	NONE	.	.	.	.	.	.	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000592666	Transcript	.	.	ENSG00000034063	12556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UHRF1	HGNC	.	.	.	SNV	UHRF1,non_coding_transcript_exon_variant,,ENST00000262952,;UHRF1,non_coding_transcript_exon_variant,,ENST00000592666,;UHRF1,non_coding_transcript_exon_variant,,ENST00000592200,;UHRF1,non_coding_transcript_exon_variant,,ENST00000591699,;UHRF1,non_coding_transcript_exon_variant,,ENST00000587187,;UHRF1,non_coding_transcript_exon_variant,,ENST00000591733,;UHRF1,non_coding_transcript_exon_variant,,ENST00000398240,;UHRF1,non_coding_transcript_exon_variant,,ENST00000543616,;UHRF1,intron_variant,,ENST00000587870,;	578	96	143	SUCCESS
SEC1P	653677	.	GRCh37	19	49166509	49166509	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	9	0	ENST00000430145.2:n.104G>A		p.*35*	ENST00000430145				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33068.1	.	MUTECT|MUSE	.	GGAAAGAGGAG	NONE	.	.	.	.	.	ENSP00000270235	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000270235	Transcript	.	.	ENSG00000142233	25208	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NET5_HUMAN	NTN5	HGNC	M0QXZ9_HUMAN	.	UPI000007032D	SNV	NTN5,intron_variant,,ENST00000270235,;NTN5,intron_variant,,ENST00000596844,;SEC1P,non_coding_transcript_exon_variant,,ENST00000430145,;SEC1P,non_coding_transcript_exon_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;NTN5,non_coding_transcript_exon_variant,,ENST00000600468,;SEC1P,non_coding_transcript_exon_variant,,ENST00000521217,;	.	9	10	SUCCESS
ZNRF4	148066	.	GRCh37	19	5456638	5456638	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	56	0	ENST00000222033.4:c.1136A>T	p.His379Leu	p.H379L	ENST00000222033	NM_181710.3	379	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS42475.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACCGGC	NONE	.	.	hmmpanther:PTHR22765:SF34,hmmpanther:PTHR22765	.	.	ENSP00000222033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000222033	Transcript	.	.	ENSG00000105428	17726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.07)	.	ZNRF4_HUMAN	ZNRF4	HGNC	.	.	UPI0000366CF5	SNV	ZNRF4,missense_variant,p.His379Leu,ENST00000222033,;	1213	56	101	SUCCESS
LILRA5	353514	.	GRCh37	19	54822602	54822602	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	61	0	ENST00000432233.3:c.794G>C	p.Cys265Ser	p.C265S	ENST00000432233	NM_181879.2	265	tGc/tCc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12888.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGCAGGGG	NONE	.	.	.	.	.	ENSP00000301219	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301219	Transcript	.	.	ENSG00000187116	16309	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIRA5_HUMAN	LILRA5	HGNC	.	.	UPI0000034C06	SNV	LILRA5,missense_variant,p.Cys265Ser,ENST00000432233,;LILRA5,missense_variant,p.Cys253Ser,ENST00000446712,;LILRA5,intron_variant,,ENST00000346508,;LILRA5,intron_variant,,ENST00000301219,;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,intron_variant,,ENST00000477720,;	.	61	85	SUCCESS
MLLT1	4298	.	GRCh37	19	6213406	6213406	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	45	0	ENST00000252674.7:c.1493A>G	p.Glu498Gly	p.E498G	ENST00000252674	NM_005934.3	498	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS12160.1	1493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCATCC	NONE	.	.	hmmpanther:PTHR23195:SF14,hmmpanther:PTHR23195	.	.	ENSP00000252674	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000252674	Transcript	.	.	ENSG00000130382	7134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	ENL_HUMAN	MLLT1	HGNC	.	.	UPI000006F7B3	SNV	MLLT1,missense_variant,p.Glu498Gly,ENST00000252674,;CTC-503J8.6,upstream_gene_variant,,ENST00000586154,;CTC-503J8.6,upstream_gene_variant,,ENST00000587473,;MLLT1,non_coding_transcript_exon_variant,,ENST00000585588,;	1657	45	67	SUCCESS
MUC16	94025	.	GRCh37	19	9083038	9083038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	88	137	0	ENST00000397910.4:c.8777C>T	p.Ser2926Phe	p.S2926F	ENST00000397910	NM_024690.2	2926	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS54212.1	8777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGATGCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser2926Phe,ENST00000397910,;	8981	137	193	SUCCESS
SLC25A24	29957	.	GRCh37	1	108679374	108679374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	69	121	2	ENST00000565488.1:c.1335A>T	p.Arg445Ser	p.R445S	ENST00000565488	NM_013386.4	445	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS41361.1	1335	RADIA|SOMATICSNIPER|VARSCANS	.	ATGCCTCTGTA	NONE	.	.	Prints_domain:PR00928,Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF262,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	.	.	ENSP00000457733	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000565488	Transcript	.	.	ENSG00000085491	20662	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.562)	.	deleterious(0)	.	SCMC1_HUMAN	SLC25A24	HGNC	.	.	UPI0000206111	SNV	SLC25A24,missense_variant,p.Arg445Ser,ENST00000565488,;SLC25A24,missense_variant,p.Arg426Ser,ENST00000370041,;SLC25A24,3_prime_UTR_variant,,ENST00000264128,;	1555	123	143	SUCCESS
NBPF10	100132406	.	GRCh37	1	145354337	145354337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	15	0	ENST00000342960.5:c.8265G>C	p.Leu2755Phe	p.L2755F	ENST00000342960	NM_001039703.5	2755	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	.	8265	RADIA|VARSCANS	.	GTCTTGCAGGA	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16,Pfam_domain:PF06758	.	.	ENSP00000345684	.	66/84	.	.	.	.	.	.	.	.	.	66/84	PASS	ENST00000342960	Transcript	.	.	ENSG00000163386	31992	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	.	.	.	NBPF10	HGNC	S4R3H5_HUMAN,A6NDV3_HUMAN	.	UPI0001CE93AE	SNV	NBPF10,missense_variant,p.Leu617Phe,ENST00000605176,;NBPF10,missense_variant,p.Leu361Phe,ENST00000369339,;NBPF10,missense_variant,p.Leu2755Phe,ENST00000342960,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369338,;NBPF10,3_prime_UTR_variant,,ENST00000490598,;	8300	15	42	SUCCESS
TCHH	7062	.	GRCh37	1	152080354	152080354	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199599922	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	72	52	0	ENST00000368804.1:c.5339G>T	p.Arg1780Leu	p.R1780L	ENST00000368804	NM_007113.3	1780	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS41396.1	5339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	rs199599922,COSM1237949	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	.	0,1	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Arg1780Leu,ENST00000368804,;	5339	53	114	SUCCESS
INTS3	65123	.	GRCh37	1	153740305	153740305	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	19	0	ENST00000318967.2:c.2244+2T>A		p.X748_splice	ENST00000318967	NM_023015.3	748		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1052.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGTCAGTG	NONE	.	.	.	.	.	ENSP00000318641	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318967	Transcript	.	.	ENSG00000143624	26153	.	.	HIGH	21/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT3_HUMAN	INTS3	HGNC	.	.	UPI0000231CA8	SNV	INTS3,splice_donor_variant,,ENST00000435409,;INTS3,splice_donor_variant,,ENST00000318967,;INTS3,splice_donor_variant,,ENST00000456435,;INTS3,splice_donor_variant,,ENST00000512605,;INTS3,splice_donor_variant,,ENST00000476843,;INTS3,splice_donor_variant,,ENST00000503133,;INTS3,splice_donor_variant,,ENST00000368670,;INTS3,splice_donor_variant,,ENST00000368669,;INTS3,splice_donor_variant,,ENST00000481797,;INTS3,downstream_gene_variant,,ENST00000491790,;	.	19	61	SUCCESS
SHC1	6464	.	GRCh37	1	154942683	154942683	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	187	162	0	ENST00000368445.5:c.320T>C	p.Leu107Pro	p.L107P	ENST00000368445	NM_183001.4	107	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS44233.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGGGGT	NONE	.	.	hmmpanther:PTHR10337:SF2,hmmpanther:PTHR10337	.	.	ENSP00000401303	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000448116	Transcript	.	.	ENSG00000160691	10840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.32)	.	SHC1_HUMAN	SHC1	HGNC	Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN,B4DL02_HUMAN	.	UPI00002048B4	SNV	SHC1,missense_variant,p.Leu107Pro,ENST00000448116,;SHC1,missense_variant,p.Leu107Pro,ENST00000368445,;SHC1,splice_region_variant,,ENST00000368453,;SHC1,splice_region_variant,,ENST00000412170,;SHC1,splice_region_variant,,ENST00000366442,;SHC1,splice_region_variant,,ENST00000368450,;SHC1,intron_variant,,ENST00000368449,;SHC1,intron_variant,,ENST00000606391,;SHC1,upstream_gene_variant,,ENST00000444664,;CKS1B,upstream_gene_variant,,ENST00000308987,;SHC1,upstream_gene_variant,,ENST00000444179,;CKS1B,upstream_gene_variant,,ENST00000368436,;CKS1B,upstream_gene_variant,,ENST00000368439,;SHC1,upstream_gene_variant,,ENST00000414115,;SHC1,upstream_gene_variant,,ENST00000490667,;CKS1B,upstream_gene_variant,,ENST00000477676,;	541	163	310	SUCCESS
DCST1	149095	.	GRCh37	1	155015937	155015937	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772085683	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	54	63	0	ENST00000295542.1:c.1124G>A	p.Gly375Glu	p.G375E	ENST00000295542	NM_152494.3	375	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS1083.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGCTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21041:SF5,hmmpanther:PTHR21041	.	.	ENSP00000295542	.	10/17	.	.	.	.	.	.	.	.	rs772085683	10/17	PASS	ENST00000295542	Transcript	.	.	ENSG00000163357	26539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.09)	.	DCST1_HUMAN	DCST1	HGNC	.	.	UPI000013E269	SNV	DCST1,missense_variant,p.Gly350Glu,ENST00000423025,;DCST1,missense_variant,p.Gly375Glu,ENST00000392480,;DCST1,missense_variant,p.Gly375Glu,ENST00000368419,;DCST1,missense_variant,p.Gly375Glu,ENST00000295542,;RP11-307C12.11,downstream_gene_variant,,ENST00000452962,;DCST1,missense_variant,p.Gly400Glu,ENST00000525273,;	1220	63	162	SUCCESS
ADAM15	8751	.	GRCh37	1	155023871	155023871	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	47	36	1	ENST00000356955.2:c.9G>T	p.Leu3=	p.L3=	ENST00000356955	NM_207197.2	3	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1087.1	9	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTGGCGCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF130	.	.	ENSP00000349436	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000356955	Transcript	.	.	ENSG00000143537	193	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADA15_HUMAN	ADAM15	HGNC	.	.	UPI000035CC78	SNV	ADAM15,synonymous_variant,p.%3D,ENST00000359280,;ADAM15,synonymous_variant,p.%3D,ENST00000356955,;ADAM15,synonymous_variant,p.%3D,ENST00000360674,;ADAM15,synonymous_variant,p.%3D,ENST00000447332,;ADAM15,synonymous_variant,p.%3D,ENST00000531455,;ADAM15,synonymous_variant,p.%3D,ENST00000449910,;ADAM15,synonymous_variant,p.%3D,ENST00000355956,;ADAM15,synonymous_variant,p.%3D,ENST00000271836,;ADAM15,synonymous_variant,p.%3D,ENST00000368412,;ADAM15,synonymous_variant,p.%3D,ENST00000368410,;ADAM15,synonymous_variant,p.%3D,ENST00000368413,;DCST1,downstream_gene_variant,,ENST00000423025,;DCST1,downstream_gene_variant,,ENST00000392480,;DCST1,downstream_gene_variant,,ENST00000295542,;DCST1,downstream_gene_variant,,ENST00000368419,;ADAM15,non_coding_transcript_exon_variant,,ENST00000477533,;ADAM15,non_coding_transcript_exon_variant,,ENST00000487956,;ADAM15,non_coding_transcript_exon_variant,,ENST00000485346,;ADAM15,non_coding_transcript_exon_variant,,ENST00000531831,;ADAM15,non_coding_transcript_exon_variant,,ENST00000531703,;ADAM15,non_coding_transcript_exon_variant,,ENST00000472434,;ADAM15,intron_variant,,ENST00000480331,;ADAM15,intron_variant,,ENST00000533732,;ADAM15,intron_variant,,ENST00000473905,;ADAM15,upstream_gene_variant,,ENST00000470779,;ADAM15,synonymous_variant,p.%3D,ENST00000529473,;ADAM15,synonymous_variant,p.%3D,ENST00000526491,;ADAM15,non_coding_transcript_exon_variant,,ENST00000461564,;ADAM15,non_coding_transcript_exon_variant,,ENST00000527418,;DCST1,downstream_gene_variant,,ENST00000525273,;ADAM15,upstream_gene_variant,,ENST00000534019,;ADAM15,upstream_gene_variant,,ENST00000525020,;	110	37	91	SUCCESS
LAMC2	3918	.	GRCh37	1	183190045	183190045	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs184817147	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	81	146	1	ENST00000264144.4:c.589C>A	p.Arg197Ser	p.R197S	ENST00000264144	NM_005562.2	197	Cgc/Agc	0	.	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS1352.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGCAGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	T:0.006	.	ENSP00000264144	T:0	5/23	.	.	.	.	.	.	.	.	rs184817147,COSM275817	5/23	PASS	ENST00000264144	Transcript	.	T:0.0014	ENSG00000058085	6493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	T:0.001	tolerated(0.78)	0,1	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,missense_variant,p.Arg197Ser,ENST00000264144,;LAMC2,missense_variant,p.Arg197Ser,ENST00000493293,;	654	147	300	SUCCESS
USH2A	7399	.	GRCh37	1	216019200	216019200	+	synonymous_variant	Silent	SNP	G	G	A	rs1327521692	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	71	140	0	ENST00000307340.3:c.9021C>T	p.Asn3007=	p.N3007=	ENST00000307340	NM_206933.2	3007	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS31025.1	9021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGTTGAT	NONE	.	.	SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	45/72	.	.	.	.	.	.	.	.	COSM334249	45/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	9408	140	240	SUCCESS
TBCE	6905	.	GRCh37	1	235605132	235605132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	36	94	0	ENST00000366601.3:c.1274A>G	p.Tyr425Cys	p.Y425C	ENST00000366601		425	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1605.1	1274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATATGGTG	NONE	.	.	hmmpanther:PTHR15140:SF6,hmmpanther:PTHR15140	.	.	ENSP00000355560	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000366601	Transcript	.	.	ENSG00000116957	11582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	TBCE_HUMAN	TBCE	HGNC	.	.	UPI000006F791	SNV	TBCE,missense_variant,p.Tyr476Cys,ENST00000543662,;TBCE,missense_variant,p.Tyr425Cys,ENST00000366601,;TBCE,missense_variant,p.Tyr425Cys,ENST00000406207,;TBCE,non_coding_transcript_exon_variant,,ENST00000465463,;TBCE,non_coding_transcript_exon_variant,,ENST00000472011,;	1450	94	117	SUCCESS
ASAP3	55616	.	GRCh37	1	23763700	23763700	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	67	113	0	ENST00000336689.3:c.1265A>T	p.His422Leu	p.H422L	ENST00000336689	NM_017707.3	422	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS235.1	1265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCGTGCGGC	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF211	.	.	ENSP00000338769	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000336689	Transcript	.	.	ENSG00000088280	14987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.11)	.	ASAP3_HUMAN	ASAP3	HGNC	H0YER8_HUMAN	.	UPI0000071371	SNV	ASAP3,missense_variant,p.His422Leu,ENST00000336689,;ASAP3,missense_variant,p.His413Leu,ENST00000437606,;ASAP3,upstream_gene_variant,,ENST00000465372,;ASAP3,upstream_gene_variant,,ENST00000495646,;ASAP3,3_prime_UTR_variant,,ENST00000492982,;ASAP3,3_prime_UTR_variant,,ENST00000475814,;ASAP3,non_coding_transcript_exon_variant,,ENST00000530874,;ASAP3,upstream_gene_variant,,ENST00000484418,;ASAP3,downstream_gene_variant,,ENST00000478858,;	1310	113	188	SUCCESS
MKNK1	8569	.	GRCh37	1	47048993	47048993	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	46	0	ENST00000371946.4:c.43A>C	p.Ser15Arg	p.S15R	ENST00000371946	NM_003684.5	15	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS538.1	43	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACTGCCCA	NONE	.	.	hmmpanther:PTHR24349	.	.	ENSP00000361014	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000371946	Transcript	.	.	ENSG00000079277	7110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	deleterious(0.04)	.	MKNK1_HUMAN	MKNK1	HGNC	E9PSE0_HUMAN,E9PLE7_HUMAN	.	UPI0000073749	SNV	MKNK1,missense_variant,p.Ser15Arg,ENST00000371945,;MKNK1,missense_variant,p.Ser15Arg,ENST00000465783,;MKNK1,missense_variant,p.Ser15Arg,ENST00000529170,;MKNK1,missense_variant,p.Ser15Arg,ENST00000545730,;MKNK1,missense_variant,p.Ser3Arg,ENST00000532783,;MKNK1,missense_variant,p.Ser85Arg,ENST00000532110,;MKNK1,missense_variant,p.Ser15Arg,ENST00000371946,;MKNK1,missense_variant,p.Ser15Arg,ENST00000428112,;MKNK1,missense_variant,p.Ser15Arg,ENST00000531769,;MKNK1,missense_variant,p.Ser9Arg,ENST00000528237,;MKNK1,missense_variant,p.Ser15Arg,ENST00000341183,;MKNK1,missense_variant,p.Ser15Arg,ENST00000496619,;MKNK1,5_prime_UTR_variant,,ENST00000371944,;MKNK1,downstream_gene_variant,,ENST00000525888,;MKNK1,missense_variant,p.Ser15Arg,ENST00000526513,;MKNK1,missense_variant,p.Ser15Arg,ENST00000531355,;MKNK1,missense_variant,p.Ser9Arg,ENST00000342571,;MKNK1,missense_variant,p.Ser15Arg,ENST00000528077,;MKNK1,3_prime_UTR_variant,,ENST00000474868,;MKNK1,non_coding_transcript_exon_variant,,ENST00000486716,;MKNK1,non_coding_transcript_exon_variant,,ENST00000480531,;MKNK1,non_coding_transcript_exon_variant,,ENST00000484301,;MKNK1,downstream_gene_variant,,ENST00000477883,;	207	46	47	SUCCESS
MOB3C	148932	.	GRCh37	1	47075833	47075833	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	57	0	ENST00000319928.3:c.462C>A	p.Ile154=	p.I154=	ENST00000319928	NM_201403.2	154	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS539.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGATCTT	NONE	.	.	hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF12,Gene3D:1pi1A00,Pfam_domain:PF03637,Superfamily_domains:0049093	.	.	ENSP00000271139	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000271139	Transcript	.	.	ENSG00000142961	29800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MOB3C	HGNC	.	.	UPI000034ECBB	SNV	MOB3C,synonymous_variant,p.%3D,ENST00000371940,;MOB3C,synonymous_variant,p.%3D,ENST00000271139,;MOB3C,synonymous_variant,p.%3D,ENST00000319928,;MKNK1,intron_variant,,ENST00000545730,;MKNK1,intron_variant,,ENST00000531769,;MOB3C,non_coding_transcript_exon_variant,,ENST00000477318,;	675	57	73	SUCCESS
SLC5A9	200010	.	GRCh37	1	48713094	48713094	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	94	0	ENST00000438567.2:c.1925A>G	p.Lys642Arg	p.K642R	ENST00000438567	NM_001011547.2	642	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44136.1	2000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAGGCTG	NONE	.	.	hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF96	.	.	ENSP00000236495	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000236495	Transcript	.	.	ENSG00000117834	22146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.19)	.	SC5A9_HUMAN	SLC5A9	HGNC	.	.	UPI0000251D94	SNV	SLC5A9,missense_variant,p.Lys667Arg,ENST00000236495,;SLC5A9,missense_variant,p.Lys642Arg,ENST00000438567,;SLC5A9,missense_variant,p.Lys663Arg,ENST00000533824,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000471020,;SLC5A9,downstream_gene_variant,,ENST00000525901,;SLC5A9,3_prime_UTR_variant,,ENST00000425816,;SLC5A9,3_prime_UTR_variant,,ENST00000532322,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;	2050	95	118	SUCCESS
NOP56	10528	.	GRCh37	20	2635441	2635441	+	synonymous_variant	Silent	SNP	G	G	A	rs140571524	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	50	0	ENST00000329276.5:c.417G>A	p.Leu139=	p.L139=	ENST00000329276	NM_006392.3	139	ctG/ctA	0	T:0	.	.	.	.	A	L	protein_coding	YES	CCDS13030.1	417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGTCAGC	NONE	byCluster	.	hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894	.	T:0.0001	ENSP00000370589	.	5/12	.	.	.	.	.	.	.	.	rs140571524	5/12	PASS	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,synonymous_variant,p.%3D,ENST00000445139,;NOP56,synonymous_variant,p.%3D,ENST00000329276,;IDH3B,downstream_gene_variant,,ENST00000380851,;IDH3B,downstream_gene_variant,,ENST00000380843,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORD86,upstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORA51,upstream_gene_variant,,ENST00000606420,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,upstream_gene_variant,,ENST00000413522,;NOP56,non_coding_transcript_exon_variant,,ENST00000480992,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000492240,;NOP56,upstream_gene_variant,,ENST00000480447,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000492135,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000470143,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,upstream_gene_variant,,ENST00000467196,;	933	50	69	SUCCESS
RP11-410N8.4	0	.	GRCh37	20	31189358	31189358	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	49	0	ENST00000375670.1:c.-111T>A		p.*37*	ENST00000375670				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTACCTG	NONE	.	.	.	.	.	ENSP00000364822	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000375670	Transcript	.	.	ENSG00000204393	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YT011_HUMAN	RP11-410N8.4	Clone_based_vega_gene	.	.	UPI0000160B7F	SNV	RP11-410N8.4,5_prime_UTR_variant,,ENST00000375670,;RP11-410N8.4,upstream_gene_variant,,ENST00000375671,;	122	49	63	SUCCESS
BAGE2	85319	.	GRCh37	21	11026795	11026795	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	284	22	293	0	ENST00000470054.1:n.1641A>C		p.*547*	ENST00000470054				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	AGTCCTGCACC	NONE	.	.	.	.	.	.	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1641	293	307	SUCCESS
RRP1B	23076	.	GRCh37	21	45107430	45107430	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	21	0	ENST00000340648.4:c.1175G>A	p.Ser392Asn	p.S392N	ENST00000340648	NM_015056.2	392	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS33577.1	1175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGTGAAA	NONE	.	.	hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2	.	.	ENSP00000339145	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000340648	Transcript	.	.	ENSG00000160208	23818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.16)	.	RRP1B_HUMAN	RRP1B	HGNC	.	.	UPI0000198EE6	SNV	RRP1B,missense_variant,p.Ser392Asn,ENST00000340648,;RRP1B,non_coding_transcript_exon_variant,,ENST00000470886,;	1292	21	28	SUCCESS
AIRE	326	.	GRCh37	21	45707002	45707002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	36	89	0	ENST00000291582.5:c.449G>T	p.Gly150Val	p.G150V	ENST00000291582	NM_000383.3	150	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS13706.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGCACCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15	.	.	ENSP00000291582	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000291582	Transcript	.	.	ENSG00000160224	360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.21)	.	AIRE_HUMAN	AIRE	HGNC	.	.	UPI0000030FA6	SNV	AIRE,missense_variant,p.Gly150Val,ENST00000291582,;AIRE,upstream_gene_variant,,ENST00000329347,;AIRE,upstream_gene_variant,,ENST00000355347,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,upstream_gene_variant,,ENST00000337909,;AIRE,upstream_gene_variant,,ENST00000397994,;	576	89	134	SUCCESS
ZDHHC8	29801	.	GRCh37	22	20132876	20132876	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	109	1	ENST00000334554.7:c.2251A>T	p.Lys751Ter	p.K751*	ENST00000334554	NM_013373.3	751	Aag/Tag	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54502.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTAAGAAG	NONE	.	.	.	.	.	ENSP00000384716	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405930	Transcript	.	.	ENSG00000099904	18474	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDHC8_HUMAN	ZDHHC8	HGNC	.	.	UPI0000D62100	SNV	ZDHHC8,stop_gained,p.Lys751Ter,ENST00000334554,;ZDHHC8,stop_gained,p.Lys659Ter,ENST00000320602,;ZDHHC8,intron_variant,,ENST00000405930,;AC006547.14,downstream_gene_variant,,ENST00000439765,;AC006547.14,downstream_gene_variant,,ENST00000540078,;ZDHHC8,downstream_gene_variant,,ENST00000468112,;AC006547.14,downstream_gene_variant,,ENST00000444532,;ZDHHC8,downstream_gene_variant,,ENST00000472497,;ZDHHC8,downstream_gene_variant,,ENST00000469212,;	.	110	107	SUCCESS
RGL4	266747	.	GRCh37	22	24036434	24036434	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	31	0	ENST00000290691.5:c.913-100C>T		p.*305*	ENST00000290691	NM_153615.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13811.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCTCTGC	NONE	.	.	.	.	.	ENSP00000290691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290691	Transcript	.	.	ENSG00000159496	31911	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGDSR_HUMAN	RGL4	HGNC	B5MCW5_HUMAN	.	UPI00000740FE	SNV	RGL4,intron_variant,,ENST00000290691,;RGL4,intron_variant,,ENST00000423392,;RGL4,intron_variant,,ENST00000401461,;RGL4,upstream_gene_variant,,ENST00000452208,;KB-1572G7.2,non_coding_transcript_exon_variant,,ENST00000421064,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000445682,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000451837,;GUSBP11,intron_variant,,ENST00000422506,;GUSBP11,intron_variant,,ENST00000452737,;AP000347.2,upstream_gene_variant,,ENST00000458554,;KB-1572G7.2,upstream_gene_variant,,ENST00000423913,;AP000347.2,upstream_gene_variant,,ENST00000417194,;RGL4,upstream_gene_variant,,ENST00000460167,;GUSBP11,upstream_gene_variant,,ENST00000455485,;AP000347.2,upstream_gene_variant,,ENST00000438858,;GUSBP11,upstream_gene_variant,,ENST00000608454,;RGL4,intron_variant,,ENST00000460003,;RGL4,intron_variant,,ENST00000441897,;RGL4,intron_variant,,ENST00000467354,;AP000347.2,intron_variant,,ENST00000435868,;	.	31	39	SUCCESS
PIWIL3	440822	.	GRCh37	22	25155853	25155853	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	37	0	ENST00000332271.5:c.206G>A	p.Gly69Glu	p.G69E	ENST00000332271	NM_001255975.1	69	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33623.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892	.	.	ENSP00000330031	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000332271	Transcript	.	.	ENSG00000184571	18443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	PIWL3_HUMAN	PIWIL3	HGNC	.	.	UPI00002073D6	SNV	PIWIL3,missense_variant,p.Gly69Glu,ENST00000332271,;PIWIL3,5_prime_UTR_variant,,ENST00000527701,;PIWIL3,5_prime_UTR_variant,,ENST00000533313,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;	623	37	66	SUCCESS
TAB1	10454	.	GRCh37	22	39817945	39817945	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	92	0	ENST00000216160.6:c.890A>T	p.Glu297Val	p.E297V	ENST00000216160	NM_006116.2	297	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13993.1	890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGAGGCAG	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF250,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000216160	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000216160	Transcript	.	.	ENSG00000100324	18157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	TAB1_HUMAN	TAB1	HGNC	B7Z9N9_HUMAN,A8K6K3_HUMAN	.	UPI0000136861	SNV	TAB1,missense_variant,p.Glu297Val,ENST00000331454,;TAB1,missense_variant,p.Glu297Val,ENST00000216160,;TAB1,non_coding_transcript_exon_variant,,ENST00000473491,;TAB1,downstream_gene_variant,,ENST00000490819,;	952	92	110	SUCCESS
LDOC1L	0	.	GRCh37	22	44893467	44893467	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs763433520	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	57	60	0	ENST00000341255.3:c.-31G>T		p.*11*	ENST00000341255	NM_032287.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33662.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCCGCGG	NONE	.	.	.	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	rs763433520	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,5_prime_UTR_variant,,ENST00000341255,;	480	60	117	SUCCESS
ANAPC1	64682	.	GRCh37	2	112601156	112601156	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	101	0	ENST00000341068.3:c.1873A>G	p.Ile625Val	p.I625V	ENST00000341068	NM_022662.3	625	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2093.1	1873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAATTGCTT	NONE	.	.	hmmpanther:PTHR12827	.	.	ENSP00000339109	.	17/48	.	.	.	.	.	.	.	.	.	17/48	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.28)	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	SNV	ANAPC1,missense_variant,p.Ile625Val,ENST00000341068,;ANAPC1,missense_variant,p.Ile160Val,ENST00000427997,;	2646	101	135	SUCCESS
DDX1	1653	.	GRCh37	2	15737583	15737583	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	75	170	0	ENST00000233084.3:c.247A>C	p.Thr83Pro	p.T83P	ENST00000233084	NM_004939.2	83	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS1686.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAACTGGT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50188,hmmpanther:PTHR24031:SF211,hmmpanther:PTHR24031,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF49899	.	.	ENSP00000370745	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000381341	Transcript	.	.	ENSG00000079785	2734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.28)	.	DDX1_HUMAN	DDX1	HGNC	B4DME8_HUMAN,A3RJH1_HUMAN	.	UPI00001290D1	SNV	DDX1,missense_variant,p.Thr83Pro,ENST00000381341,;DDX1,missense_variant,p.Thr83Pro,ENST00000233084,;DDX1,downstream_gene_variant,,ENST00000434671,;	636	170	200	SUCCESS
IFIH1	64135	.	GRCh37	2	163139081	163139081	+	synonymous_variant	Silent	SNP	C	C	A	rs180798633	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	34	73	0	ENST00000263642.2:c.1101G>T	p.Leu367=	p.L367=	ENST00000263642	NM_022168.3	367	ctG/ctT	0	.	G:0.0008	.	G:0	.	A	L	protein_coding	YES	CCDS2217.1	1101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGCAGTAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52540,Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF04851,Gene3D:3.40.50.300,hmmpanther:PTHR14074:SF14,hmmpanther:PTHR14074,PROSITE_profiles:PS51192,Low_complexity_(Seg):seg	G:0	.	ENSP00000263642	G:0	6/16	.	.	.	.	.	.	.	.	rs180798633	6/16	PASS	ENST00000263642	Transcript	.	G:0.0002	ENSG00000115267	18873	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	IFIH1_HUMAN	IFIH1	HGNC	Q53TP4_HUMAN,Q53TB6_HUMAN	.	UPI000013D436	SNV	IFIH1,synonymous_variant,p.%3D,ENST00000263642,;	1497	73	81	SUCCESS
DHRS9	10170	.	GRCh37	2	169952088	169952088	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	120	257	0	ENST00000357546.2:c.771G>T	p.Val257=	p.V257=	ENST00000357546	NM_199204.1	257	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2231.1	771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTGAACAT	NONE	.	.	Superfamily_domains:SSF51735,Gene3D:3.40.50.720,hmmpanther:PTHR24316:SF266,hmmpanther:PTHR24316	.	.	ENSP00000316670	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000327239	Transcript	.	.	ENSG00000073737	16888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHRS9_HUMAN	DHRS9	HGNC	Q53TL1_HUMAN,Q4ZG83_HUMAN,C9J430_HUMAN	.	UPI00000389D3	SNV	DHRS9,synonymous_variant,p.%3D,ENST00000602501,;DHRS9,synonymous_variant,p.%3D,ENST00000327239,;DHRS9,synonymous_variant,p.%3D,ENST00000436483,;DHRS9,synonymous_variant,p.%3D,ENST00000432060,;DHRS9,synonymous_variant,p.%3D,ENST00000428522,;DHRS9,synonymous_variant,p.%3D,ENST00000357546,;DHRS9,synonymous_variant,p.%3D,ENST00000421653,;DHRS9,synonymous_variant,p.%3D,ENST00000412271,;	2275	257	309	SUCCESS
TTN	7273	.	GRCh37	2	179639038	179639038	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761566436	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	63	84	0	ENST00000591111.1:c.6953G>A	p.Arg2318His	p.R2318H	ENST00000591111		2318	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS59435.1	6953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGACGA	BUFFER|p.R2271H|c.6812G>A|3,BUFFER|p.R2271H|c.6812G>A|3,BUFFER|p.R2317H|c.6950G>A|3,BUFFER|p.R2271H|c.6812G>A|3,BUFFER|p.R2317H|c.6950G>A|3	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	30/363	.	.	.	.	.	.	.	.	rs761566436	30/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg2318His,ENST00000360870,;TTN,missense_variant,p.Arg2272His,ENST00000359218,;TTN,missense_variant,p.Arg2318His,ENST00000342992,;TTN,missense_variant,p.Arg2272His,ENST00000342175,;TTN,missense_variant,p.Arg2318His,ENST00000589042,;TTN,missense_variant,p.Arg2318His,ENST00000591111,;TTN,missense_variant,p.Arg2272His,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000610005,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000585451,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000584485,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;	7178	84	124	SUCCESS
FAM171B	165215	.	GRCh37	2	187627077	187627077	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775021880	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	97	183	0	ENST00000304698.5:c.2008C>T	p.Pro670Ser	p.P670S	ENST00000304698	NM_177454.3	670	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS33347.1	2008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATCCCAGA	NONE	.	.	Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2	.	.	ENSP00000304108	.	8/8	.	.	.	.	.	.	.	.	rs775021880	8/8	PASS	ENST00000304698	Transcript	.	.	ENSG00000144369	29412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F171B_HUMAN	FAM171B	HGNC	A8K122_HUMAN	.	UPI0000161631	SNV	FAM171B,missense_variant,p.Pro670Ser,ENST00000304698,;	2211	183	196	SUCCESS
USP37	57695	.	GRCh37	2	219330793	219330794	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	42	0	ENST00000258399.3:c.2405dup	p.Met802IlefsTer4	p.M802Ifs*4	ENST00000258399	NM_020935.2	802	atg/atTg	0	.	.	.	.	.	A	M/IX	protein_coding	YES	CCDS2418.1	2405-2406	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCTCCATATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF125,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000258399	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000258399	Transcript	.	.	ENSG00000135913	20063	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP37_HUMAN	USP37	HGNC	.	.	UPI0000160023	insertion	USP37,frameshift_variant,p.Met802IlefsTer4,ENST00000258399,;USP37,frameshift_variant,p.Met802IlefsTer4,ENST00000418019,;USP37,frameshift_variant,p.Met708IlefsTer4,ENST00000415516,;USP37,frameshift_variant,p.Met802IlefsTer4,ENST00000454775,;USP37,downstream_gene_variant,,ENST00000473554,;	2818-2819	42	79	SUCCESS
UGT1A1	54658	.	GRCh37	2	234669658	234669658	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	59	122	0	ENST00000305208.5:c.725T>A	p.Val242Glu	p.V242E	ENST00000305208	NM_000463.2	242	gTg/gAg	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2509.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGTGACTG	NONE	.	.	.	.	.	ENSP00000476805	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000609767	Transcript	.	.	ENSG00000241635	12540	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UGT1A8	HGNC	Q8WX91_HUMAN,A9UKC8_HUMAN,A7E1U5_HUMAN,Q5DT01_HUMAN	.	UPI0000001045	SNV	UGT1A8,missense_variant,p.Val242Glu,ENST00000608383,;UGT1A8,missense_variant,p.Val242Glu,ENST00000360418,;UGT1A1,missense_variant,p.Val242Glu,ENST00000305208,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A4,intron_variant,,ENST00000373409,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A3,intron_variant,,ENST00000482026,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A8,intron_variant,,ENST00000609767,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,downstream_gene_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000484784,;	.	122	150	SUCCESS
UGT1A1	54658	.	GRCh37	2	234669659	234669659	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	60	123	0	ENST00000305208.5:c.726G>C	p.Val242=	p.V242=	ENST00000305208	NM_000463.2	242	gtG/gtC	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2509.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTGACTGT	NONE	.	.	.	.	.	ENSP00000476805	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000609767	Transcript	.	.	ENSG00000241635	12540	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UGT1A8	HGNC	Q8WX91_HUMAN,A9UKC8_HUMAN,A7E1U5_HUMAN,Q5DT01_HUMAN	.	UPI0000001045	SNV	UGT1A8,synonymous_variant,p.%3D,ENST00000608383,;UGT1A8,synonymous_variant,p.%3D,ENST00000360418,;UGT1A1,synonymous_variant,p.%3D,ENST00000305208,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A4,intron_variant,,ENST00000373409,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A3,intron_variant,,ENST00000482026,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A8,intron_variant,,ENST00000609767,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,downstream_gene_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000484784,;	.	123	153	SUCCESS
ACKR3	57007	.	GRCh37	2	237489983	237489983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	38	0	ENST00000272928.3:c.875C>T	p.Ala292Val	p.A292V	ENST00000272928	NM_020311.2	292	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2516.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGCCCTCT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF34,PROSITE_profiles:PS50262	.	.	ENSP00000272928	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000272928	Transcript	.	.	ENSG00000144476	23692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.3)	.	ACKR3_HUMAN	ACKR3	HGNC	.	.	UPI000013D989	SNV	ACKR3,missense_variant,p.Ala292Val,ENST00000272928,;ACKR3,downstream_gene_variant,,ENST00000447924,;	1185	38	61	SUCCESS
COL6A3	1293	.	GRCh37	2	238271932	238271932	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	117	262	1	ENST00000295550.4:c.6027C>A	p.Asn2009Lys	p.N2009K	ENST00000295550	NM_004369.3	2009	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS33412.1	6027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAGTTAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	14/44	.	.	.	.	.	.	.	.	.	14/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Asn1809Lys,ENST00000346358,;COL6A3,missense_variant,p.Asn1808Lys,ENST00000347401,;COL6A3,missense_variant,p.Asn1402Lys,ENST00000472056,;COL6A3,missense_variant,p.Asn1803Lys,ENST00000353578,;COL6A3,missense_variant,p.Asn1803Lys,ENST00000409809,;COL6A3,missense_variant,p.Asn2009Lys,ENST00000295550,;	6480	263	283	SUCCESS
CRIM1	51232	.	GRCh37	2	36749317	36749317	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	79	168	0	ENST00000280527.2:c.2289A>T	p.Ala763=	p.A763=	ENST00000280527	NM_016441.2	763	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1783.1	2289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCAGCTGA	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000280527	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000280527	Transcript	.	.	ENSG00000150938	2359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIM1_HUMAN	CRIM1	HGNC	Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN	.	UPI000004C628	SNV	CRIM1,synonymous_variant,p.%3D,ENST00000413985,;CRIM1,synonymous_variant,p.%3D,ENST00000280527,;	2656	168	196	SUCCESS
SOS1	6654	.	GRCh37	2	39239378	39239378	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs730881027	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	98	0	ENST00000402219.2:c.2279C>T	p.Thr760Ile	p.T760I	ENST00000402219	NM_005633.3	760	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS1802.1	2279	MUTECT|MUSE	uncertain_significance	CAACTGTGGGA	NONE	.	.	Superfamily_domains:0041591,hmmpanther:PTHR23113:SF168,hmmpanther:PTHR23113	.	.	ENSP00000387784	.	15/24	.	.	.	.	.	.	.	.	rs730881027	15/24	PASS	ENST00000426016	Transcript	.	.	ENSG00000115904	11187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.001)	.	deleterious(0)	.	SOS1_HUMAN	SOS1	HGNC	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN	.	UPI0000135CF0	SNV	SOS1,missense_variant,p.Thr760Ile,ENST00000395038,;SOS1,missense_variant,p.Thr760Ile,ENST00000426016,;SOS1,missense_variant,p.Thr760Ile,ENST00000402219,;SOS1,upstream_gene_variant,,ENST00000474390,;	2366	98	100	SUCCESS
MSH6	2956	.	GRCh37	2	48027295	48027295	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs148898662	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	61	130	1	ENST00000234420.5:c.2173A>G	p.Ile725Val	p.I725V	ENST00000234420	NM_000179.2	725	Atc/Gtc	0	G:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS1836.1	2173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GTGCTATCTTC	NONE	byCluster	.	hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,PIRSF_domain:PIRSF037677	.	G:0.0003	ENSP00000234420	.	4/10	.	.	.	.	.	.	.	.	rs148898662	4/10	PASS	ENST00000234420	Transcript	.	.	ENSG00000116062	7329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated(0.62)	.	MSH6_HUMAN	MSH6	HGNC	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN	.	UPI00000405F8	SNV	MSH6,missense_variant,p.Ile423Val,ENST00000538136,;MSH6,missense_variant,p.Ile725Val,ENST00000234420,;MSH6,missense_variant,p.Ile595Val,ENST00000540021,;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000420813,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;	2325	131	150	SUCCESS
IGKV2D-24	28885	.	GRCh37	2	90044223	90044223	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs929661480	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	227	154	332	0	ENST00000462693.1:c.144C>A	p.Ser48Arg	p.S48R	ENST00000462693		48	agC/agA	0	.	.	.	.	.	A	S/R	IG_V_gene	YES	.	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCCTCGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000417136	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000462693	Transcript	.	.	ENSG00000241566	5797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	.	deleterious(0.01)	.	.	IGKV2D-24	HGNC	.	.	UPI0000176EBA	SNV	IGKV2D-24,missense_variant,p.Ser48Arg,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;	174	333	381	SUCCESS
IGKV2D-24	28885	.	GRCh37	2	90044224	90044224	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766582013	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	156	335	0	ENST00000462693.1:c.145C>A	p.Leu49Ile	p.L49I	ENST00000462693		49	Ctc/Atc	0	.	.	.	.	.	A	L/I	IG_V_gene	YES	.	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCTCGTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000417136	.	2/2	.	.	.	.	.	.	.	.	rs766582013	2/2	PASS	ENST00000462693	Transcript	.	.	ENSG00000241566	5797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	.	tolerated(0.14)	.	.	IGKV2D-24	HGNC	.	.	UPI0000176EBA	SNV	IGKV2D-24,missense_variant,p.Leu49Ile,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;	175	336	385	SUCCESS
FAM178B	51252	.	GRCh37	2	97637903	97637903	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs573710266	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	144	235	0	ENST00000417561.3:c.743A>T	p.Gln248Leu	p.Q248L	ENST00000417561		248	cAg/cTg	0	.	G:0	.	G:0	.	A	Q/L	protein_coding	YES	CCDS46366.2	299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCTGTATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF11	G:0	.	ENSP00000429896	G:0	3/17	.	.	.	.	.	.	.	.	rs573710266	3/17	PASS	ENST00000490605	Transcript	.	G:0.0016	ENSG00000168754	28036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.754)	G:0.0082	deleterious_low_confidence(0)	.	F178B_HUMAN	FAM178B	HGNC	F8W6I6_HUMAN,B3KV66_HUMAN	.	UPI0001C53D28	SNV	FAM178B,missense_variant,p.Gln248Leu,ENST00000417561,;FAM178B,missense_variant,p.Gln68Leu,ENST00000327896,;FAM178B,missense_variant,p.Gln100Leu,ENST00000490605,;	578	235	347	SUCCESS
SENP7	57337	.	GRCh37	3	101052005	101052005	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	16	0	ENST00000394095.2:c.2481-299A>C		p.*827*	ENST00000394095	NM_020654.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2941.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTGCTTA	NONE	.	.	.	.	.	ENSP00000377655	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394095	Transcript	.	.	ENSG00000138468	30402	.	.	MODIFIER	17/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SENP7_HUMAN	SENP7	HGNC	.	.	UPI0000E56ED1	SNV	SENP7,5_prime_UTR_variant,,ENST00000394085,;SENP7,intron_variant,,ENST00000394091,;SENP7,intron_variant,,ENST00000314261,;SENP7,intron_variant,,ENST00000394095,;SENP7,intron_variant,,ENST00000358203,;SENP7,intron_variant,,ENST00000394094,;SENP7,intron_variant,,ENST00000348610,;SENP7,downstream_gene_variant,,ENST00000460107,;	.	16	15	SUCCESS
BRK1	55845	.	GRCh37	3	10157342	10157342	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs748238316	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	74	108	0	ENST00000530758.1:c.-44A>T		p.*15*	ENST00000530758	NM_018462.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54553.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGTAGGGTC	NONE	byFrequency	.	.	.	.	ENSP00000432472	.	1/3	.	.	.	.	.	.	.	.	rs748238316	1/3	PASS	ENST00000530758	Transcript	.	.	ENSG00000254999	23057	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRK1_HUMAN	BRK1	HGNC	.	.	UPI0000049C9A	SNV	BRK1,5_prime_UTR_variant,,ENST00000530758,;BRK1,upstream_gene_variant,,ENST00000256463,;	67	108	156	SUCCESS
CCDC80	151887	.	GRCh37	3	112357332	112357332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	82	1	ENST00000206423.3:c.1421G>T	p.Gly474Val	p.G474V	ENST00000206423	NM_199512.1	474	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2968.1	1421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCATGT	NONE	.	.	.	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	tolerated(0.09)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Gly474Val,ENST00000206423,;CCDC80,missense_variant,p.Gly474Val,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	2375	83	121	SUCCESS
ALDH1L1	10840	.	GRCh37	3	125833489	125833489	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	60	0	ENST00000393434.2:c.1993A>T	p.Ser665Cys	p.S665C	ENST00000393434	NM_012190.3	665	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS58851.1	2023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACTTATGG	NONE	.	.	hmmpanther:PTHR11699:SF120,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.605.10,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53720	.	.	ENSP00000273450	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000273450	Transcript	.	.	ENSG00000144908	3978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious(0)	.	AL1L1_HUMAN	ALDH1L1	HGNC	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN	.	UPI0000425C57	SNV	ALDH1L1,missense_variant,p.Ser665Cys,ENST00000393434,;ALDH1L1,missense_variant,p.Ser564Cys,ENST00000452905,;ALDH1L1,missense_variant,p.Ser675Cys,ENST00000273450,;ALDH1L1,missense_variant,p.Ser665Cys,ENST00000472186,;ALDH1L1,intron_variant,,ENST00000393431,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000467370,;ALDH1L1,upstream_gene_variant,,ENST00000462808,;	2241	60	58	SUCCESS
ACAD9	28976	.	GRCh37	3	128598473	128598475	+	5_prime_UTR_variant	5'UTR	DEL	TGT	TGT	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	TGT	TGT	.	.	.	.	.	.	.	.	.	.	.	.	.	68	65	73	0	ENST00000308982.7:c.-62_-60delinsC		p.*21*	ENST00000308982	NM_014049.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3053.1	.	PINDEL|VARSCANS*|SOMATICSNIPER*	.	GACGTGTGTGTGTC	NONE	.	.	.	.	.	ENSP00000312618	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000308982	Transcript	.	.	ENSG00000177646	21497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACAD9_HUMAN	ACAD9	HGNC	Q9H9W4_HUMAN,Q9BUX5_HUMAN,H0Y8Z9_HUMAN	.	UPI00000498C3	substitution	ACAD9,5_prime_UTR_variant,,ENST00000308982,;ACAD9,5_prime_UTR_variant,,ENST00000514336,;ACAD9,non_coding_transcript_exon_variant,,ENST00000505602,;ACAD9,5_prime_UTR_variant,,ENST00000512801,;ACAD9,5_prime_UTR_variant,,ENST00000515429,;ACAD9,5_prime_UTR_variant,,ENST00000514643,;ACAD9,5_prime_UTR_variant,,ENST00000505192,;ACAD9,5_prime_UTR_variant,,ENST00000511227,;ACAD9,upstream_gene_variant,,ENST00000505867,;	20-22	73	133	SUCCESS
C3orf36	80111	.	GRCh37	3	133648043	133648043	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	47	61	0	ENST00000408895.2:c.-396C>A		p.*132*	ENST00000408895	NM_025041.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3083.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGGGACT	NONE	.	.	.	.	.	ENSP00000386219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408895	Transcript	.	.	ENSG00000221972	26170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC036_HUMAN	C3orf36	HGNC	.	.	UPI000013F433	SNV	C3orf36,5_prime_UTR_variant,,ENST00000408895,;SLCO2A1,downstream_gene_variant,,ENST00000310926,;	614	61	103	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913412	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	119	126	0	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2694.1	121	RADIA|MUTECT|MUSE	.	CCACTACCACA	SITE|p.T41A|c.121A>G|828,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T40I|c.119C>T|11,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5664,COSM5688,COSM5716	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	401	126	204	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266165	41266165	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	111	131	0	ENST00000349496.5:c.162A>C	p.Glu54Asp	p.E54D	ENST00000349496	NM_001904.3	54	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS2694.1	162	RADIA|MUTECT|MUSE	.	GAGGAAGAGGA	CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.E55K|c.163G>A|5,BUFFER|p.N51D|c.151A>G|4,BUFFER|p.E53K|c.157G>A|10,BUFFER|p.E55G|c.164A>G|3,BUFFER|p.D58N|c.172G>A|4	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM1423022	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.001)	.	tolerated(1)	1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Glu54Asp,ENST00000349496,;CTNNB1,missense_variant,p.Glu47Asp,ENST00000426215,;CTNNB1,missense_variant,p.Glu54Asp,ENST00000450969,;CTNNB1,missense_variant,p.Glu54Asp,ENST00000431914,;CTNNB1,missense_variant,p.Glu54Asp,ENST00000396185,;CTNNB1,missense_variant,p.Glu54Asp,ENST00000405570,;CTNNB1,missense_variant,p.Glu47Asp,ENST00000453024,;CTNNB1,missense_variant,p.Glu54Asp,ENST00000396183,;CTNNB1,missense_variant,p.Glu54Asp,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	442	131	196	SUCCESS
LZTFL1	54585	.	GRCh37	3	45872441	45872441	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	36	88	0	ENST00000296135.6:c.564A>G	p.Ala188=	p.A188=	ENST00000296135	NM_020347.3	188	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS2731.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTGCTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21635:SF0,hmmpanther:PTHR21635,Pfam_domain:PF15294	.	.	ENSP00000296135	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000296135	Transcript	.	.	ENSG00000163818	6741	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTL1_HUMAN	LZTFL1	HGNC	C9J0R9_HUMAN	.	UPI0000073CE2	SNV	LZTFL1,synonymous_variant,p.%3D,ENST00000536047,;LZTFL1,synonymous_variant,p.%3D,ENST00000440576,;LZTFL1,synonymous_variant,p.%3D,ENST00000539217,;LZTFL1,synonymous_variant,p.%3D,ENST00000296135,;LZTFL1,downstream_gene_variant,,ENST00000445698,;LZTFL1,non_coding_transcript_exon_variant,,ENST00000490463,;LZTFL1,intron_variant,,ENST00000469874,;LZTFL1,downstream_gene_variant,,ENST00000492333,;LZTFL1,3_prime_UTR_variant,,ENST00000418700,;LZTFL1,3_prime_UTR_variant,,ENST00000411866,;LZTFL1,3_prime_UTR_variant,,ENST00000448111,;LZTFL1,downstream_gene_variant,,ENST00000480156,;LZTFL1,downstream_gene_variant,,ENST00000495864,;LZTFL1,upstream_gene_variant,,ENST00000478551,;	739	88	139	SUCCESS
ITPR1	3708	.	GRCh37	3	4747976	4747976	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373619512	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	75	1	ENST00000354582.6:c.4783C>A	p.Arg1595Ser	p.R1595S	ENST00000354582		1595	Cgc/Agc	0	T:0	.	.	.	.	A	R/S	protein_coding	YES	CCDS54551.1	4738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCACGCAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Superfamily_domains:SSF48371	.	T:0.0002	ENSP00000306253	.	36/61	.	.	.	.	.	.	.	.	rs373619512,COSM1423584,COSM1423582,COSM1423583	36/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.994)	.	tolerated(0.09)	0,1,1,1	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Arg1580Ser,ENST00000443694,;ITPR1,missense_variant,p.Arg1595Ser,ENST00000354582,;ITPR1,missense_variant,p.Arg1586Ser,ENST00000423119,;ITPR1,missense_variant,p.Arg1571Ser,ENST00000456211,;ITPR1,missense_variant,p.Arg1586Ser,ENST00000357086,;ITPR1,missense_variant,p.Arg1580Ser,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	5088	76	93	SUCCESS
TMEM115	11070	.	GRCh37	3	50396097	50396097	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	129	81	0	ENST00000266025.3:c.398T>G	p.Val133Gly	p.V133G	ENST00000266025	NM_007024.4	133	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS2828.1	398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGGACAGTG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF144091,Pfam_domain:PF08551,hmmpanther:PTHR13377	.	.	ENSP00000266025	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000266025	Transcript	.	.	ENSG00000126062	30055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.161)	.	deleterious(0)	.	TM115_HUMAN	TMEM115	HGNC	.	.	UPI0000131B9A	SNV	TMEM115,missense_variant,p.Val133Gly,ENST00000266025,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;CYB561D2,downstream_gene_variant,,ENST00000424512,;CACNA2D2,downstream_gene_variant,,ENST00000360963,;CYB561D2,downstream_gene_variant,,ENST00000418577,;CYB561D2,downstream_gene_variant,,ENST00000232508,;CACNA2D2,downstream_gene_variant,,ENST00000435965,;CACNA2D2,downstream_gene_variant,,ENST00000266039,;CACNA2D2,downstream_gene_variant,,ENST00000429770,;CACNA2D2,downstream_gene_variant,,ENST00000424201,;CYB561D2,downstream_gene_variant,,ENST00000425346,;CACNA2D2,downstream_gene_variant,,ENST00000423994,;CACNA2D2,downstream_gene_variant,,ENST00000395083,;CYB561D2,downstream_gene_variant,,ENST00000490926,;CACNA2D2,downstream_gene_variant,,ENST00000483620,;	945	81	215	SUCCESS
GNL3	26354	.	GRCh37	3	52724657	52724657	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	58	124	0	ENST00000418458.1:c.591A>C	p.Lys197Asn	p.K197N	ENST00000418458	NM_014366.4	197	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS2861.1	591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAAGAATT	NONE	.	.	PROSITE_profiles:PS51721,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF11,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000395772	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000418458	Transcript	.	.	ENSG00000163938	29931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.27)	.	GNL3_HUMAN	GNL3	HGNC	C9JZT7_HUMAN,C9JYH9_HUMAN	.	UPI000003C48A	SNV	GNL3,missense_variant,p.Lys185Asn,ENST00000394799,;GNL3,missense_variant,p.Lys197Asn,ENST00000418458,;GNL3,downstream_gene_variant,,ENST00000474423,;GNL3,downstream_gene_variant,,ENST00000479230,;GLT8D1,downstream_gene_variant,,ENST00000491606,;PBRM1,upstream_gene_variant,,ENST00000450271,;PBRM1,upstream_gene_variant,,ENST00000431678,;PBRM1,upstream_gene_variant,,ENST00000420148,;GLT8D1,downstream_gene_variant,,ENST00000394783,;GLT8D1,downstream_gene_variant,,ENST00000407584,;GLT8D1,downstream_gene_variant,,ENST00000478968,;PBRM1,upstream_gene_variant,,ENST00000394830,;PBRM1,upstream_gene_variant,,ENST00000424867,;PBRM1,upstream_gene_variant,,ENST00000458294,;GLT8D1,downstream_gene_variant,,ENST00000266014,;SNORD19B,downstream_gene_variant,,ENST00000516978,;SNORD19B,upstream_gene_variant,,ENST00000459623,;SNORD69,upstream_gene_variant,,ENST00000391150,;SNORD19,downstream_gene_variant,,ENST00000391191,;SNORD19,upstream_gene_variant,,ENST00000410413,;GLT8D1,downstream_gene_variant,,ENST00000463827,;GNL3,downstream_gene_variant,,ENST00000460073,;GNL3,downstream_gene_variant,,ENST00000468146,;GNL3,3_prime_UTR_variant,,ENST00000492349,;GNL3,non_coding_transcript_exon_variant,,ENST00000496254,;GNL3,non_coding_transcript_exon_variant,,ENST00000484022,;GLT8D1,downstream_gene_variant,,ENST00000481643,;GLT8D1,downstream_gene_variant,,ENST00000484163,;GLT8D1,downstream_gene_variant,,ENST00000480080,;GNL3,downstream_gene_variant,,ENST00000462550,;GNL3,downstream_gene_variant,,ENST00000468885,;GNL3,upstream_gene_variant,,ENST00000497356,;	764	124	187	SUCCESS
DNAH12	201625	.	GRCh37	3	57447341	57447341	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1356072282	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	24	60	0	ENST00000351747.2:c.2542C>T	p.Arg848Cys	p.R848C	ENST00000351747	NM_178504.4	848	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	.	.	2542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGATACA	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000295937	.	19/59	.	.	.	.	.	.	.	.	.	19/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.898)	.	deleterious(0)	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,missense_variant,p.Arg848Cys,ENST00000351747,;DNAH12,missense_variant,p.Arg871Cys,ENST00000495027,;	2723	61	113	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64608126	64608126	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	50	102	1	ENST00000498707.1:c.2526A>C	p.Thr842=	p.T842=	ENST00000498707	NM_182920.1	842	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2903.1	2526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCTGTTGA	BUFFER|p.R844H|c.2531G>A|3	.	.	hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF05986	.	.	ENSP00000418735	.	17/40	.	.	.	.	.	.	.	.	.	17/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,synonymous_variant,p.%3D,ENST00000295903,;ADAMTS9,synonymous_variant,p.%3D,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	2869	103	126	SUCCESS
WDR1	9948	.	GRCh37	4	10079384	10079384	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	59	93	0	ENST00000382452.2:c.1562G>T	p.Gly521Val	p.G521V	ENST00000382452	NM_017491.3	521	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS54740.1	1562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCCGTCA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19856,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000427687	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000499869	Transcript	.	.	ENSG00000071127	12754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	tolerated(0.5)	.	WDR1_HUMAN	WDR1	HGNC	.	.	UPI0000138EDA	SNV	WDR1,missense_variant,p.Gly521Val,ENST00000382452,;WDR1,missense_variant,p.Gly521Val,ENST00000499869,;WDR1,missense_variant,p.Gly381Val,ENST00000502702,;WDR1,missense_variant,p.Gly381Val,ENST00000382451,;MIR3138,downstream_gene_variant,,ENST00000585238,;RP11-448G15.3,upstream_gene_variant,,ENST00000561486,;WDR1,non_coding_transcript_exon_variant,,ENST00000515743,;WDR1,non_coding_transcript_exon_variant,,ENST00000502962,;	1756	93	153	SUCCESS
MYOZ2	51778	.	GRCh37	4	120079231	120079231	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	65	126	0	ENST00000307128.5:c.301T>A	p.Ser101Thr	p.S101T	ENST00000307128	NM_016599.4	101	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS3711.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTTCGCAG	NONE	.	.	hmmpanther:PTHR15941,hmmpanther:PTHR15941:SF9,Pfam_domain:PF05556	.	.	ENSP00000306997	.	4/6	.	.	.	.	.	.	.	.	COSM1694914	4/6	PASS	ENST00000307128	Transcript	1	.	ENSG00000172399	1330	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.014)	.	tolerated(0.51)	1	MYOZ2_HUMAN	MYOZ2	HGNC	.	.	UPI000004665D	SNV	MYOZ2,missense_variant,p.Ser101Thr,ENST00000307128,;	514	126	153	SUCCESS
FAT1	2195	.	GRCh37	4	187524333	187524333	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	50	79	0	ENST00000441802.2:c.11347A>C	p.Lys3783Gln	p.K3783Q	ENST00000441802	NM_005245.3	3783	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS47177.1	11347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTTGCAGA	NONE	.	.	hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026	.	.	ENSP00000406229	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,missense_variant,p.Lys3783Gln,ENST00000441802,;FAT1,upstream_gene_variant,,ENST00000512347,;FAT1,upstream_gene_variant,,ENST00000503253,;	11557	79	129	SUCCESS
STX18	53407	.	GRCh37	4	4426917	4426917	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	68	0	ENST00000306200.2:c.735A>G	p.Glu245=	p.E245=	ENST00000306200	NM_016930.2	245	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS3377.1	735	MUTECT|MUSE	.	TTCATTTCACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15959,hmmpanther:PTHR15959:SF0,Gene3D:1.20.5.110	.	.	ENSP00000305810	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000306200	Transcript	.	.	ENSG00000168818	15942	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STX18_HUMAN	STX18	HGNC	D6RD65_HUMAN,D6RC71_HUMAN	.	UPI0000049FDD	SNV	STX18,synonymous_variant,p.%3D,ENST00000306200,;STX18,synonymous_variant,p.%3D,ENST00000507908,;STX18,synonymous_variant,p.%3D,ENST00000512195,;STX18,synonymous_variant,p.%3D,ENST00000505286,;STX18,non_coding_transcript_exon_variant,,ENST00000502267,;STX18,non_coding_transcript_exon_variant,,ENST00000503692,;STX18,intron_variant,,ENST00000503861,;STX18,upstream_gene_variant,,ENST00000510296,;STX18,upstream_gene_variant,,ENST00000515687,;	799	68	86	SUCCESS
PDGFRA	5156	.	GRCh37	4	55139876	55139876	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	37	0	ENST00000257290.5:c.1537G>A	p.Glu513Lys	p.E513K	ENST00000257290	NM_006206.4	513	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3495.1	1537	MUTECT|MUSE|VARSCANS	.	ACCGAGAGCTG	NONE	.	.	hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	.	.	ENSP00000257290	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	PDGFRA,missense_variant,p.Glu513Lys,ENST00000257290,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.Glu513Lys,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000461294,;PDGFRA,upstream_gene_variant,,ENST00000507536,;	1868	37	44	SUCCESS
ALB	213	.	GRCh37	4	74275115	74275115	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	95	190	0	ENST00000295897.4:c.526C>G	p.Pro176Ala	p.P176A	ENST00000295897	NM_000477.5	176	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS3555.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCCGGAA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.652)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Pro176Ala,ENST00000509063,;ALB,missense_variant,p.Pro21Ala,ENST00000511370,;ALB,missense_variant,p.Pro176Ala,ENST00000295897,;ALB,missense_variant,p.Pro178Ala,ENST00000441319,;ALB,missense_variant,p.Pro26Ala,ENST00000503124,;ALB,missense_variant,p.Pro61Ala,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,synonymous_variant,p.%3D,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	615	190	222	SUCCESS
TRPC7	57113	.	GRCh37	5	135651445	135651445	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	13	92	0	ENST00000513104.1:c.803T>G	p.Met268Arg	p.M268R	ENST00000513104	NM_020389.2	268	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS47267.2	803	MUTECT|MUSE|VARSCANS	.	ATTGCATAGAT	NONE	.	.	TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.54)	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,missense_variant,p.Met268Arg,ENST00000502753,;TRPC7,missense_variant,p.Met268Arg,ENST00000513104,;TRPC7,intron_variant,,ENST00000355180,;TRPC7,intron_variant,,ENST00000352189,;TRPC7,intron_variant,,ENST00000378459,;TRPC7,intron_variant,,ENST00000426057,;TRPC7-AS2,non_coding_transcript_exon_variant,,ENST00000513958,;TRPC7,missense_variant,p.Met268Arg,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	1086	92	168	SUCCESS
PCDHB3	56132	.	GRCh37	5	140480412	140480412	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782520817	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	59	119	0	ENST00000231130.2:c.179C>T	p.Ala60Val	p.A60V	ENST00000231130	NM_018937.2	60	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4245.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCCGCGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF19,hmmpanther:PTHR24028	.	.	ENSP00000231130	.	1/1	.	.	.	.	.	.	.	.	rs782520817	1/1	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated_low_confidence(0.11)	.	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,missense_variant,p.Ala60Val,ENST00000231130,;PCDHB2,downstream_gene_variant,,ENST00000194155,;AC005754.7,intron_variant,,ENST00000607216,;	179	119	248	SUCCESS
NKX2-5	1482	.	GRCh37	5	172661932	172661932	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	124	99	0	ENST00000329198.4:c.155A>T	p.Lys52Met	p.K52M	ENST00000329198	NM_004387.3	52	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS4387.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTTGAAG	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF28	.	.	ENSP00000327758	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000329198	Transcript	1	.	ENSG00000183072	2488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	NKX25_HUMAN	NKX2-5	HGNC	A1ECB8_HUMAN	.	UPI0000062197	SNV	NKX2-5,missense_variant,p.Lys52Met,ENST00000521848,;NKX2-5,missense_variant,p.Lys52Met,ENST00000329198,;NKX2-5,missense_variant,p.Lys52Met,ENST00000424406,;NKX2-5,missense_variant,p.Lys52Met,ENST00000517440,;	429	99	207	SUCCESS
PRLR	5618	.	GRCh37	5	35086436	35086436	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	34	63	1	ENST00000382002.5:c.77T>C	p.Leu26Ser	p.L26S	ENST00000382002	NM_000949.5	26	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS3909.1	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTAACTGT	NONE	.	.	Superfamily_domains:SSF49265,Pfam_domain:PF09067,Gene3D:2.60.40.10,hmmpanther:PTHR23036:SF86,hmmpanther:PTHR23036,Transmembrane_helices:TMhelix	.	.	ENSP00000371432	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000382002	Transcript	1	.	ENSG00000113494	9446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PRLR_HUMAN	PRLR	HGNC	D6RD41_HUMAN,D6RC67_HUMAN,D6RAN9_HUMAN,D6R9V7_HUMAN,D6R9P5_HUMAN	.	UPI0000132234	SNV	PRLR,missense_variant,p.Leu26Ser,ENST00000310101,;PRLR,missense_variant,p.Leu26Ser,ENST00000382002,;PRLR,missense_variant,p.Leu26Ser,ENST00000509839,;PRLR,missense_variant,p.Leu26Ser,ENST00000542609,;PRLR,missense_variant,p.Leu26Ser,ENST00000504500,;PRLR,missense_variant,p.Leu26Ser,ENST00000513753,;PRLR,missense_variant,p.Leu26Ser,ENST00000503330,;PRLR,missense_variant,p.Leu26Ser,ENST00000348262,;PRLR,missense_variant,p.Leu26Ser,ENST00000231423,;PRLR,missense_variant,p.Leu26Ser,ENST00000515839,;PRLR,missense_variant,p.Leu26Ser,ENST00000514206,;PRLR,intron_variant,,ENST00000342362,;PRLR,intron_variant,,ENST00000511486,;PRLR,intron_variant,,ENST00000397391,;PRLR,non_coding_transcript_exon_variant,,ENST00000509934,;PRLR,intron_variant,,ENST00000509140,;PRLR,intron_variant,,ENST00000514088,;PRLR,intron_variant,,ENST00000508107,;CTD-2046J7.1,downstream_gene_variant,,ENST00000510160,;	504	64	110	SUCCESS
EMB	133418	.	GRCh37	5	49699226	49699226	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	70	164	1	ENST00000303221.5:c.663G>A	p.Lys221=	p.K221=	ENST00000303221	NM_198449.2	221	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS3953.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCTTTGT	BUFFER|p.E219K|c.655G>A|5	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4,PROSITE_profiles:PS50835	.	.	ENSP00000302289	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000303221	Transcript	.	.	ENSG00000170571	30465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMB_HUMAN	EMB	HGNC	B7Z902_HUMAN	.	UPI0000160A6D	SNV	EMB,synonymous_variant,p.%3D,ENST00000514111,;EMB,synonymous_variant,p.%3D,ENST00000303221,;EMB,synonymous_variant,p.%3D,ENST00000508934,;EMB,non_coding_transcript_exon_variant,,ENST00000506190,;EMB,non_coding_transcript_exon_variant,,ENST00000505896,;	879	165	246	SUCCESS
NAIP	4671	.	GRCh37	5	70308645	70308645	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	87	84	0	ENST00000194097.4:c.98A>T	p.Gln33Leu	p.Q33L	ENST00000194097		33	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4009.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACTGAACT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF94	.	.	ENSP00000428657	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000517649	Transcript	1	.	ENSG00000249437	7634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0.02)	.	BIRC1_HUMAN	NAIP	HGNC	B4DHI2_HUMAN	.	UPI000013C609	SNV	NAIP,missense_variant,p.Gln33Leu,ENST00000508426,;NAIP,missense_variant,p.Gln33Leu,ENST00000517649,;NAIP,missense_variant,p.Gln33Leu,ENST00000194097,;NAIP,intron_variant,,ENST00000503719,;NAIP,intron_variant,,ENST00000523981,;NAIP,missense_variant,p.Gln33Leu,ENST00000519014,;NAIP,intron_variant,,ENST00000508794,;NAIP,upstream_gene_variant,,ENST00000447012,;	389	84	144	SUCCESS
EDIL3	10085	.	GRCh37	5	83680288	83680288	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	69	59	0	ENST00000296591.5:c.-96G>T		p.*32*	ENST00000296591	NM_005711.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4062.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGCCCCTACT	NONE	.	.	.	.	.	ENSP00000296591	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,5_prime_UTR_variant,,ENST00000296591,;EDIL3,upstream_gene_variant,,ENST00000380138,;CTD-2269F5.1,non_coding_transcript_exon_variant,,ENST00000514696,;CTD-2269F5.1,upstream_gene_variant,,ENST00000509406,;CTD-2269F5.1,upstream_gene_variant,,ENST00000507060,;CTD-2269F5.1,upstream_gene_variant,,ENST00000502253,;CTD-2269F5.1,upstream_gene_variant,,ENST00000515688,;	324	59	118	SUCCESS
CHD1	1105	.	GRCh37	5	98229231	98229231	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	418	27	325	1	ENST00000284049.3:c.1880A>G	p.Tyr627Cys	p.Y627C	ENST00000284049	NM_001270.2	627	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34204.1	1880	MUTECT|MUSE	.	TTTTATACAGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192	.	.	ENSP00000284049	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Tyr627Cys,ENST00000284049,;RNU6-402P,downstream_gene_variant,,ENST00000410678,;	2030	326	446	SUCCESS
HIST1H2AE	0	.	GRCh37	6	26217396	26217396	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	286	106	0	ENST00000303910.2:c.194A>T	p.Glu65Val	p.E65V	ENST00000303910	NM_021052.2	65	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4595.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGAGCTAG	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000303373	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303910	Transcript	.	.	ENSG00000168274	4724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.693)	.	deleterious_low_confidence(0)	.	H2A1B_HUMAN	HIST1H2AE	HGNC	Q08AJ9_HUMAN	.	UPI00000007AF	SNV	HIST1H2AE,missense_variant,p.Glu65Val,ENST00000303910,;HIST1H2BG,upstream_gene_variant,,ENST00000244601,;	232	106	374	SUCCESS
PPP1R2P1	100507444	.	GRCh37	6	32847073	32847073	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	57	38	0	ENST00000429032.1:n.538G>A		p.*180*	ENST00000429032				0	.	.	.	.	.	T	.	transcribed_processed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCATGTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000429032	Transcript	.	.	ENSG00000234515	9289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PPP1R2P1	HGNC	.	.	.	SNV	PPP1R2P1,non_coding_transcript_exon_variant,,ENST00000420261,;PPP1R2P1,non_coding_transcript_exon_variant,,ENST00000429032,;	538	38	99	SUCCESS
TTBK1	84630	.	GRCh37	6	43222808	43222808	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	251	50	81	0	ENST00000259750.4:c.598C>T	p.Arg200Ter	p.R200*	ENST00000259750	NM_032538.1	200	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS34455.1	598	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCGAGGA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000259750	.	7/15	.	.	.	.	.	.	.	.	COSM3874260	7/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,stop_gained,p.Arg149Ter,ENST00000304139,;TTBK1,stop_gained,p.Arg200Ter,ENST00000259750,;	681	81	302	SUCCESS
LYRM4	57128	.	GRCh37	6	5109701	5109701	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1237012996	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	322	50	121	0	ENST00000330636.4:c.232A>G	p.Thr78Ala	p.T78A	ENST00000330636	NM_020408.5	78	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	.	CCDS4493.1	232	RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGTTGAAT	NONE	.	.	hmmpanther:PTHR13166:SF8,hmmpanther:PTHR13166	.	.	ENSP00000418787	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000330636	Transcript	.	.	ENSG00000214113	21365	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.56)	.	LYRM4_HUMAN	LYRM4	HGNC	.	.	UPI000006F715	SNV	LYRM4,missense_variant,p.Thr78Ala,ENST00000330636,;LYRM4,synonymous_variant,p.%3D,ENST00000468929,;LYRM4,3_prime_UTR_variant,,ENST00000464010,;LYRM4,non_coding_transcript_exon_variant,,ENST00000458438,;LYRM4,upstream_gene_variant,,ENST00000606472,;LYRM4,3_prime_UTR_variant,,ENST00000463032,;	438	121	372	SUCCESS
DOPEY1	0	.	GRCh37	6	83819950	83819950	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	60	128	1	ENST00000349129.2:c.598A>G	p.Ile200Val	p.I200V	ENST00000349129	NM_015018.3	200	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4996.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAATCACG	NONE	.	.	hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042,Pfam_domain:PF04118	.	.	ENSP00000195654	.	6/39	.	.	.	.	.	.	.	.	.	6/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.96)	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,missense_variant,p.Ile200Val,ENST00000536812,;DOPEY1,missense_variant,p.Ile200Val,ENST00000237163,;DOPEY1,missense_variant,p.Ile200Val,ENST00000369739,;DOPEY1,missense_variant,p.Ile200Val,ENST00000349129,;	858	129	80	SUCCESS
ZAN	7455	.	GRCh37	7	100370952	100370952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	29	57	0	ENST00000546292.1:c.5470C>A	p.Pro1824Thr	p.P1824T	ENST00000546292	NM_173059.1	1824	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	.	5470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF57567,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339	.	.	ENSP00000445943	.	29/46	.	.	.	.	.	.	.	.	.	29/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Pro401Thr,ENST00000546213,;ZAN,missense_variant,p.Pro1824Thr,ENST00000546292,;ZAN,missense_variant,p.Pro1824Thr,ENST00000542585,;ZAN,missense_variant,p.Pro1824Thr,ENST00000538115,;ZAN,missense_variant,p.Pro1824Thr,ENST00000421100,;ZAN,missense_variant,p.Pro1824Thr,ENST00000349350,;ZAN,missense_variant,p.Pro1824Thr,ENST00000427578,;ZAN,missense_variant,p.Pro1824Thr,ENST00000348028,;ZAN,missense_variant,p.Pro1824Thr,ENST00000449052,;ZAN,missense_variant,p.Pro1824Thr,ENST00000443370,;	5618	58	110	SUCCESS
RNF133	168433	.	GRCh37	7	122338044	122338044	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758847364	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	67	155	2	ENST00000340112.2:c.929T>C	p.Val310Ala	p.V310A	ENST00000340112	NM_139175.1	310	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS5784.1	929	RADIA|SOMATICSNIPER|VARSCANS	.	TTTCAACAACC	NONE	.	.	hmmpanther:PTHR22765:SF38,hmmpanther:PTHR22765	.	.	ENSP00000344489	.	1/1	.	.	.	.	.	.	.	.	rs758847364	1/1	PASS	ENST00000340112	Transcript	.	.	ENSG00000188050	21154	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.11)	.	RN133_HUMAN	RNF133	HGNC	.	.	UPI0000070D9A	SNV	RNF133,missense_variant,p.Val310Ala,ENST00000340112,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000313070,;CADPS2,intron_variant,,ENST00000412584,;RNF148,downstream_gene_variant,,ENST00000447240,;RNF148,downstream_gene_variant,,ENST00000434824,;	1167	157	248	SUCCESS
LEP	3952	.	GRCh37	7	127892214	127892214	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs770247453	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	78	1	ENST00000308868.4:c.143C>T	p.Thr48Met	p.T48M	ENST00000308868	NM_000230.2	48	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS5800.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACACGGTAA	NONE	byFrequency	.	hmmpanther:PTHR11724,Gene3D:1.20.1250.10,Pfam_domain:PF02024,PIRSF_domain:PIRSF001837,Superfamily_domains:SSF47266	.	.	ENSP00000312652	.	2/3	.	.	.	.	.	.	.	.	rs770247453	2/3	PASS	ENST00000308868	Transcript	.	.	ENSG00000174697	6553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.3)	.	LEP_HUMAN	LEP	HGNC	A4D0Y8_HUMAN,Q4TVR7_HUMAN	.	UPI00000308D4	SNV	LEP,missense_variant,p.Thr48Met,ENST00000308868,;	194	79	125	SUCCESS
NOS3	4846	.	GRCh37	7	150695672	150695672	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	42	72	0	ENST00000297494.3:c.720C>A	p.Asp240Glu	p.D240E	ENST00000297494	NM_000603.4	240	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS5912.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACTTCCG	NONE	.	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.340.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	.	.	ENSP00000297494	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.03)	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	SNV	NOS3,missense_variant,p.Asp240Glu,ENST00000467517,;NOS3,missense_variant,p.Asp240Glu,ENST00000484524,;NOS3,missense_variant,p.Asp34Glu,ENST00000461406,;NOS3,missense_variant,p.Asp240Glu,ENST00000297494,;NOS3,upstream_gene_variant,,ENST00000460603,;	1077	72	131	SUCCESS
WDR60	0	.	GRCh37	7	158718939	158718939	+	synonymous_variant	Silent	SNP	G	G	T	rs768723975	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	71	149	0	ENST00000407559.3:c.2319G>T	p.Thr773=	p.T773=	ENST00000407559	NM_018051.4	773	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47757.1	2319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGTCCGT	NONE	byFrequency	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30	.	.	ENSP00000384290	.	18/25	.	.	.	.	.	.	.	.	rs768723975	18/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,synonymous_variant,p.%3D,ENST00000407559,;WDR60,missense_variant,p.Val493Phe,ENST00000444851,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;	2477	149	236	SUCCESS
RAPGEF5	9771	.	GRCh37	7	22179655	22179655	+	synonymous_variant	Silent	SNP	C	C	T	rs764071785	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	300	107	249	0	ENST00000401957.2:c.1356G>A	p.Ser452=	p.S452=	ENST00000401957		452	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55093.1	1806	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGCGACAG	NONE	byFrequency	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF26,hmmpanther:PTHR23113,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000343656	.	21/26	.	.	.	.	.	.	.	.	rs764071785	21/26	PASS	ENST00000344041	Transcript	.	.	ENSG00000136237	16862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RAPGEF5	HGNC	C9JBS6_HUMAN,A8MQ07_HUMAN	.	UPI0000EA87E4	SNV	RAPGEF5,synonymous_variant,p.%3D,ENST00000344041,;RAPGEF5,synonymous_variant,p.%3D,ENST00000401957,;RAPGEF5,upstream_gene_variant,,ENST00000488366,;RAPGEF5,non_coding_transcript_exon_variant,,ENST00000468825,;	2119	249	408	SUCCESS
CDK13	8621	.	GRCh37	7	40133994	40133994	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	37	62	0	ENST00000181839.4:c.3954A>G	p.Glu1318=	p.E1318=	ENST00000181839	NM_031267.3	1318	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS5461.1	3954	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAGGTGG	NONE	.	.	hmmpanther:PTHR24056:SF125,hmmpanther:PTHR24056	.	.	ENSP00000181839	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000181839	Transcript	.	.	ENSG00000065883	1733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK13_HUMAN	CDK13	HGNC	.	.	UPI000013C5E3	SNV	CDK13,synonymous_variant,p.%3D,ENST00000340829,;CDK13,synonymous_variant,p.%3D,ENST00000181839,;CDK13,non_coding_transcript_exon_variant,,ENST00000465643,;CDK13,downstream_gene_variant,,ENST00000478563,;	4559	62	144	SUCCESS
COBL	23242	.	GRCh37	7	51095425	51095425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	28	77	0	ENST00000265136.7:c.3368A>G	p.Lys1123Arg	p.K1123R	ENST00000265136	NM_015198.3	1123	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS34637.1	3368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTTCCCT	NONE	.	.	SMART_domains:SM00246,Pfam_domain:PF02205,hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1,PROSITE_profiles:PS51082	.	.	ENSP00000265136	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.252)	.	tolerated(0.13)	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,missense_variant,p.Lys1008Arg,ENST00000431948,;COBL,missense_variant,p.Lys1123Arg,ENST00000265136,;COBL,missense_variant,p.Lys1205Arg,ENST00000395542,;COBL,missense_variant,p.Lys1015Arg,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;RP4-724E13.2,downstream_gene_variant,,ENST00000582616,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	3534	77	146	SUCCESS
FBXL18	80028	.	GRCh37	7	5540596	5540605	+	frameshift_variant	Frame_Shift_Del	DEL	GCGCGGTCGG	GCGCGGTCGG	-	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	GCGCGGTCGG	GCGCGGTCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	34	0	ENST00000382368.3:c.1295_1304del	p.Ala432GlyfsTer45	p.A432Gfs*45	ENST00000382368	NM_024963.4	432	gCCGACCGCGCg/gg	0	.	.	.	.	.	-	ADRA/X	protein_coding	YES	CCDS43546.1	1295-1304	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGGCGCGCGGTCGGCGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23125:SF280,hmmpanther:PTHR23125	.	.	ENSP00000371805	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000382368	Transcript	.	.	ENSG00000155034	21874	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FXL18_HUMAN	FBXL18	HGNC	.	.	UPI000020EA59	deletion	FBXL18,frameshift_variant,p.Ala432GlyfsTer45,ENST00000453700,;FBXL18,frameshift_variant,p.Ala316GlyfsTer45,ENST00000458142,;FBXL18,frameshift_variant,p.Ala432GlyfsTer45,ENST00000382368,;FBXL18,frameshift_variant,p.Ala432GlyfsTer45,ENST00000415009,;	1419-1428	34	60	SUCCESS
MAGI2	9863	.	GRCh37	7	77789458	77789458	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	54	86	1	ENST00000354212.4:c.2729G>C	p.Gly910Ala	p.G910A	ENST00000354212	NM_012301.3	910	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS5594.1	2729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGCCTTCA	BUFFER|p.A912T|c.2734G>A|3	.	.	hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Superfamily_domains:SSF50156	.	.	ENSP00000346151	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.51)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Gly910Ala,ENST00000354212,;MAGI2,missense_variant,p.Gly896Ala,ENST00000419488,;MAGI2,missense_variant,p.Gly910Ala,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000522342,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000524268,;	2983	87	174	SUCCESS
FAM133B	257415	.	GRCh37	7	92210842	92210842	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	55	1	ENST00000445716.1:c.100C>T	p.Leu34=	p.L34=	ENST00000445716	NM_152789.2	34	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47640.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGATAAT	NONE	.	.	hmmpanther:PTHR31911,hmmpanther:PTHR31911:SF3	.	.	ENSP00000398401	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000445716	Transcript	.	.	ENSG00000234545	28629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F133B_HUMAN	FAM133B	HGNC	C9JUX2_HUMAN	.	UPI000004471D	SNV	FAM133B,synonymous_variant,p.%3D,ENST00000445716,;FAM133B,synonymous_variant,p.%3D,ENST00000438306,;FAM133B,synonymous_variant,p.%3D,ENST00000427372,;FAM133B,synonymous_variant,p.%3D,ENST00000456502,;FAM133B,upstream_gene_variant,,ENST00000494079,;FAM133B,synonymous_variant,p.%3D,ENST00000415397,;FAM133B,non_coding_transcript_exon_variant,,ENST00000492686,;FAM133B,non_coding_transcript_exon_variant,,ENST00000480397,;FAM133B,non_coding_transcript_exon_variant,,ENST00000481407,;FAM133B,upstream_gene_variant,,ENST00000490747,;	203	56	120	SUCCESS
SAMD9	54809	.	GRCh37	7	92734707	92734707	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	45	83	0	ENST00000379958.2:c.704T>C	p.Ile235Thr	p.I235T	ENST00000379958	NM_017654.3	235	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS34680.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAATAGTG	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Ile235Thr,ENST00000446617,;SAMD9,missense_variant,p.Ile235Thr,ENST00000379958,;	974	83	163	SUCCESS
CNGB3	54714	.	GRCh37	8	87683234	87683234	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	162	83	1	ENST00000320005.5:c.431C>T	p.Ala144Val	p.A144V	ENST00000320005	NM_019098.4	144	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6244.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGGCTGTT	NONE	.	.	hmmpanther:PTHR10217:SF385,hmmpanther:PTHR10217	.	.	ENSP00000316605	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.07)	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,missense_variant,p.Ala144Val,ENST00000320005,;	479	84	229	SUCCESS
SVEP1	79987	.	GRCh37	9	113205798	113205798	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	64	0	ENST00000374469.1:c.4570+27T>A		p.*1524*	ENST00000374469				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48004.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGAATTAT	NONE	.	.	.	.	.	ENSP00000384917	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODIFIER	27/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,3_prime_UTR_variant,,ENST00000302728,;SVEP1,intron_variant,,ENST00000401783,;SVEP1,intron_variant,,ENST00000374469,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	.	64	83	SUCCESS
CACNA1B	774	.	GRCh37	9	141008886	141008886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	45	66	0	ENST00000371372.1:c.5593A>G	p.Lys1865Glu	p.K1865E	ENST00000371372	NM_001243812.1	1865	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS59522.1	5593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAAGCAG	NONE	.	.	SMART_domains:SM01062,Pfam_domain:PF08763,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	.	ENSP00000360423	.	41/47	.	.	.	.	.	.	.	.	.	41/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,missense_variant,p.Lys1059Glu,ENST00000277549,;CACNA1B,missense_variant,p.Lys1866Glu,ENST00000371355,;CACNA1B,missense_variant,p.Lys1864Glu,ENST00000371357,;CACNA1B,missense_variant,p.Lys1865Glu,ENST00000277551,;CACNA1B,missense_variant,p.Lys1863Glu,ENST00000371363,;CACNA1B,missense_variant,p.Lys1865Glu,ENST00000371372,;CACNA1B,downstream_gene_variant,,ENST00000371365,;	5738	66	102	SUCCESS
MLLT3	4300	.	GRCh37	9	20363312	20363312	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	17	0	ENST00000380338.4:c.1331+162A>T		p.*444*	ENST00000380338	NM_004529.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6494.1	.	RADIA|MUTECT|MUSE	.	TTCCCTGTAAA	NONE	.	.	.	.	.	ENSP00000369695	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380338	Transcript	.	.	ENSG00000171843	7136	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AF9_HUMAN	MLLT3	HGNC	Q6LEQ8_HUMAN,B1APT5_HUMAN	.	UPI00002111CB	SNV	MLLT3,intron_variant,,ENST00000429426,;MLLT3,intron_variant,,ENST00000355930,;MLLT3,intron_variant,,ENST00000380321,;MLLT3,intron_variant,,ENST00000380338,;MLLT3,non_coding_transcript_exon_variant,,ENST00000475957,;MLLT3,intron_variant,,ENST00000468513,;MLLT3,intron_variant,,ENST00000491137,;MLLT3,intron_variant,,ENST00000380323,;MLLT3,intron_variant,,ENST00000469261,;MLLT3,intron_variant,,ENST00000488705,;	.	17	11	SUCCESS
FRMPD1	22844	.	GRCh37	9	37708463	37708463	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	52	0	ENST00000377765.3:c.327A>C	p.Glu109Asp	p.E109D	ENST00000377765	NM_014907.2	109	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS6612.1	327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAGACCT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000444411	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000539465	Transcript	.	.	ENSG00000070601	29159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.44)	.	FRPD1_HUMAN	FRMPD1	HGNC	F5H0G3_HUMAN	.	UPI000013D2CC	SNV	FRMPD1,missense_variant,p.Glu109Asp,ENST00000539465,;FRMPD1,missense_variant,p.Glu109Asp,ENST00000377765,;FRMPD1,downstream_gene_variant,,ENST00000359927,;RP11-613M10.9,intron_variant,,ENST00000540557,;	920	52	78	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43816712	43816712	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	583	132	584	1	ENST00000377561.2:n.964A>T		p.*322*	ENST00000377561		273		0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS55312.1	818	RADIA|SOMATICSNIPER|VARSCANS	.	CTGGCATTCCG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000366787	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,missense_variant,p.His273Leu,ENST00000377564,;CNTNAP3B,missense_variant,p.His273Leu,ENST00000276974,;CNTNAP3B,missense_variant,p.His273Leu,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;	1211	585	716	SUCCESS
FBP1	2203	.	GRCh37	9	97367847	97367847	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	56	0	ENST00000375326.4:c.717T>A	p.Ala239=	p.A239=	ENST00000375326	NM_000507.3	239	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6712.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGAGCTGA	NONE	.	.	Superfamily_domains:SSF56655,PIRSF_domain:PIRSF500210,PIRSF_domain:PIRSF000904,Pfam_domain:PF00316,Gene3D:3.40.190.80,hmmpanther:PTHR11556,hmmpanther:PTHR11556:SF11,HAMAP:MF_01855	.	.	ENSP00000408025	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000415431	Transcript	.	.	ENSG00000165140	3606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F16P1_HUMAN	FBP1	HGNC	Q5VZC3_HUMAN,A8QID0_HUMAN	.	UPI0000070F7C	SNV	FBP1,synonymous_variant,p.%3D,ENST00000415431,;FBP1,synonymous_variant,p.%3D,ENST00000375326,;FBP1,downstream_gene_variant,,ENST00000414122,;	947	56	78	SUCCESS
ACE2	59272	.	GRCh37	X	15609834	15609834	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	104	51	0	ENST00000252519.3:c.583+2T>C		p.X195_splice	ENST00000252519		195		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14169.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTACGATT	NONE	.	.	.	.	.	ENSP00000389326	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427411	Transcript	.	.	ENSG00000130234	13557	.	.	HIGH	5/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACE2_HUMAN	ACE2	HGNC	.	.	UPI000000D907	SNV	ACE2,splice_donor_variant,,ENST00000427411,;ACE2,splice_donor_variant,,ENST00000252519,;ACE2,downstream_gene_variant,,ENST00000484756,;	.	51	115	SUCCESS
KDM5C	8242	.	GRCh37	X	53230776	53230776	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	6	69	0	ENST00000375401.3:c.2017A>G	p.Met673Val	p.M673V	ENST00000375401	NM_004187.3	673	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS14351.1	2017	MUTECT|MUSE	.	CACCATGATGA	NONE	.	.	hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694	.	.	ENSP00000364550	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000375401	Transcript	.	.	ENSG00000126012	11114	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	deleterious(0)	.	KDM5C_HUMAN	KDM5C	HGNC	.	.	UPI000013CBE3	SNV	KDM5C,missense_variant,p.Met606Val,ENST00000452825,;KDM5C,missense_variant,p.Met673Val,ENST00000375379,;KDM5C,missense_variant,p.Met672Val,ENST00000404049,;KDM5C,missense_variant,p.Met632Val,ENST00000375383,;KDM5C,missense_variant,p.Met673Val,ENST00000375401,;KDM5C,non_coding_transcript_exon_variant,,ENST00000465402,;KDM5C,upstream_gene_variant,,ENST00000477109,;KDM5C,non_coding_transcript_exon_variant,,ENST00000497100,;KDM5C,non_coding_transcript_exon_variant,,ENST00000481369,;	2550	69	135	SUCCESS
DLG3	1741	.	GRCh37	X	69719893	69719893	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	189	71	2	ENST00000374360.3:c.2139A>T	p.Ala713=	p.A713=	ENST00000374360	NM_021120.3	713	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14403.1	2139	SOMATICSNIPER|VARSCANS	.	GTTGCAGAGAG	NONE	.	.	PROSITE_profiles:PS50052,hmmpanther:PTHR23119:SF7,hmmpanther:PTHR23119,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF52540	.	.	ENSP00000363480	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000374360	Transcript	.	.	ENSG00000082458	2902	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,synonymous_variant,p.%3D,ENST00000542398,;DLG3,synonymous_variant,p.%3D,ENST00000374355,;DLG3,synonymous_variant,p.%3D,ENST00000194900,;DLG3,synonymous_variant,p.%3D,ENST00000374360,;DLG3,non_coding_transcript_exon_variant,,ENST00000461646,;DLG3,downstream_gene_variant,,ENST00000489733,;DLG3,downstream_gene_variant,,ENST00000466140,;DLG3,non_coding_transcript_exon_variant,,ENST00000496931,;DLG3,non_coding_transcript_exon_variant,,ENST00000463252,;	2372	73	200	SUCCESS
NHSL2	340527	.	GRCh37	X	71358304	71358304	+	synonymous_variant	Silent	SNP	C	C	T	rs1020296331	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	168	64	1	ENST00000510661.1:c.213C>T	p.Ser71=	p.S71=	ENST00000510661		71	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	.	906	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AACAGCCCAGC	NONE	.	.	hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2	.	.	ENSP00000444617	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000540800	Transcript	.	.	ENSG00000204131	33737	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NHSL2	HGNC	F5H593_HUMAN	.	UPI0001B09231	SNV	NHSL2,synonymous_variant,p.%3D,ENST00000540800,;NHSL2,synonymous_variant,p.%3D,ENST00000510661,;NHSL2,5_prime_UTR_variant,,ENST00000373677,;NHSL2,5_prime_UTR_variant,,ENST00000535692,;RP11-262D11.1,downstream_gene_variant,,ENST00000513469,;	906	66	181	SUCCESS
CHUK	1147	.	GRCh37	10	101967049	101967049	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	69	0	ENST00000370397.7:c.1169G>A	p.Ser390Asn	p.S390N	ENST00000370397	NM_001278.3	390	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS7488.1	1169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTACTTTTA	NONE	.	.	hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13	.	.	ENSP00000359424	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	SNV	CHUK,missense_variant,p.Ser390Asn,ENST00000370397,;	1256	69	54	SUCCESS
SORCS3	22986	.	GRCh37	10	107022244	107022244	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs367891062	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	58	0	ENST00000369701.3:c.3599T>C	p.Val1200Ala	p.V1200A	ENST00000369701	NM_014978.1	1200	gTc/gCc	0	C:0	.	.	.	.	C	V/A	protein_coding	YES	CCDS7558.1	3599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCATAG	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106	.	C:0.0001	ENSP00000358715	.	26/27	.	.	.	.	.	.	.	.	rs367891062	26/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.35)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Val1200Ala,ENST00000369701,;	3826	58	56	SUCCESS
FAM45A	0	.	GRCh37	10	120879889	120879890	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	235	94	287	0	ENST00000361432.2:c.519dup	p.His174ThrfsTer50	p.H174Tfs*50	ENST00000361432	NM_207009.2	173	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS7609.1	518-519	INDELOCATOR*|VARSCANI*|PINDEL	.	TATCTTACACA	NONE	.	.	Pfam_domain:PF08616	.	.	ENSP00000354688	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000361432	Transcript	.	.	ENSG00000119979	31793	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA45A_HUMAN	FAM45A	HGNC	.	.	UPI0000071DBA	insertion	FAM45A,frameshift_variant,p.His174ThrfsTer50,ENST00000361432,;FAM45A,frameshift_variant,p.His23ThrfsTer50,ENST00000544016,;FAM45A,intron_variant,,ENST00000535029,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489988,;FAM45A,non_coding_transcript_exon_variant,,ENST00000487888,;FAM45A,non_coding_transcript_exon_variant,,ENST00000448258,;FAM45A,upstream_gene_variant,,ENST00000498549,;	544-545	287	329	SUCCESS
RASGEF1A	221002	.	GRCh37	10	43691966	43691966	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	47	0	ENST00000395809.1:c.1379G>A	p.Gly460Asp	p.G460D	ENST00000395809		460	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7202.2	1379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGACCCTCA	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF172,hmmpanther:PTHR23113,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000379154	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000395809	Transcript	.	.	ENSG00000198915	24246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.296)	.	deleterious(0.04)	.	RGF1A_HUMAN	RASGEF1A	HGNC	.	.	UPI00002289AF	SNV	RASGEF1A,missense_variant,p.Gly468Asp,ENST00000374459,;RASGEF1A,missense_variant,p.Gly460Asp,ENST00000395810,;RASGEF1A,missense_variant,p.Gly460Asp,ENST00000395809,;RASGEF1A,downstream_gene_variant,,ENST00000374455,;RASGEF1A,downstream_gene_variant,,ENST00000472864,;	3886	47	53	SUCCESS
JMJD1C	221037	.	GRCh37	10	64952883	64952883	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs770406797	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	19	0	ENST00000399262.2:c.5891A>G	p.Asn1964Ser	p.N1964S	ENST00000399262	NM_032776.1	1964	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS41532.1	5891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATTACTG	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	16/26	.	.	.	.	.	.	.	.	rs770406797	16/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.14)	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	SNV	JMJD1C,missense_variant,p.Asn1964Ser,ENST00000399262,;JMJD1C,missense_variant,p.Asn511Ser,ENST00000327520,;JMJD1C,missense_variant,p.Asn1782Ser,ENST00000542921,;JMJD1C,3_prime_UTR_variant,,ENST00000399251,;JMJD1C,intron_variant,,ENST00000402544,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000483298,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000497922,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000490669,;	6110	19	16	SUCCESS
TBATA	219793	.	GRCh37	10	72536989	72536989	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	36	0	ENST00000299290.1:c.610T>C	p.Ser204Pro	p.S204P	ENST00000299290	NM_152710.2	204	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS7308.1	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGATCTGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15256	.	.	ENSP00000299290	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000299290	Transcript	.	.	ENSG00000166220	23511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	deleterious(0.04)	.	TBATA_HUMAN	TBATA	HGNC	.	.	UPI000013E57C	SNV	TBATA,missense_variant,p.Ser204Pro,ENST00000299290,;TBATA,missense_variant,p.Ser204Pro,ENST00000456372,;TBATA,downstream_gene_variant,,ENST00000545575,;TBATA,upstream_gene_variant,,ENST00000394982,;	1000	36	34	SUCCESS
PAPSS2	9060	.	GRCh37	10	89419664	89419664	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	60	0	ENST00000361175.4:c.-75C>T		p.*25*	ENST00000361175	NM_004670.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44453.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCGCCG	NONE	.	.	.	.	.	ENSP00000406157	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000456849	Transcript	1	.	ENSG00000198682	8604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPS2_HUMAN	PAPSS2	HGNC	.	.	UPI000002B182	SNV	PAPSS2,5_prime_UTR_variant,,ENST00000456849,;PAPSS2,5_prime_UTR_variant,,ENST00000361175,;PAPSS2,upstream_gene_variant,,ENST00000427144,;RP11-57C13.6,downstream_gene_variant,,ENST00000438082,;RP11-57C13.3,non_coding_transcript_exon_variant,,ENST00000354527,;PAPSS2,upstream_gene_variant,,ENST00000482258,;PAPSS2,upstream_gene_variant,,ENST00000465996,;	189	60	73	SUCCESS
PTEN	5728	.	GRCh37	10	89685287	89685287	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs398123316	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	740	509	1277	0	ENST00000371953.3:c.182A>T	p.His61Leu	p.H61L	ENST00000371953	NM_000314.4	61	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS31238.1	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance,pathogenic	AAAGCATAAAA	CODON|p.0?|c.1_1212del1212|28,CODON|p.H61R|c.182A>G|8,BUFFER|p.S59*|c.176C>A|4,BUFFER|p.K60fs*39|c.179_179delA|4,BUFFER|p.N63fs*10|c.187_188delAA|3,BUFFER|p.N63fs*36|c.188delA|4	byCluster	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	.	.	ENSP00000361021	.	3/9	.	.	.	.	.	.	.	.	CM110129,rs398123316,COSM5227,COSM5042,COSM5233	3/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(0.986)	.	deleterious(0)	0,0,1,1,1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,missense_variant,p.His61Leu,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	1539	1277	1249	SUCCESS
CYP2C8	1558	.	GRCh37	10	96829225	96829225	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs762182020	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	32	0	ENST00000371270.3:c.-66C>G		p.*22*	ENST00000371270	NM_000770.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7438.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGCTAAT	NONE	.	.	.	.	.	ENSP00000360317	.	1/9	.	.	.	.	.	.	.	.	rs762182020	1/9	PASS	ENST00000371270	Transcript	1	.	ENSG00000138115	2622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2C8_HUMAN	CYP2C8	HGNC	B7Z1F5_HUMAN	.	UPI0000128256	SNV	CYP2C8,5_prime_UTR_variant,,ENST00000539050,;CYP2C8,5_prime_UTR_variant,,ENST00000371270,;CYP2C8,5_prime_UTR_variant,,ENST00000535898,;CYP2C8,5_prime_UTR_variant,,ENST00000525991,;CYP2C8,5_prime_UTR_variant,,ENST00000490994,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,upstream_gene_variant,,ENST00000527420,;CYP2C8,upstream_gene_variant,,ENST00000533320,;	30	32	29	SUCCESS
PIH1D2	120379	.	GRCh37	11	111941928	111941928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	28	48	0	ENST00000280350.4:c.381G>T	p.Gln127His	p.Q127H	ENST00000280350	NM_138789.3	127	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS8355.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAACTGATT	NONE	.	.	hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF2,Pfam_domain:PF08190	.	.	ENSP00000280350	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000280350	Transcript	.	.	ENSG00000150773	25210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.48)	.	PIHD2_HUMAN	PIH1D2	HGNC	.	.	UPI000007007A	SNV	PIH1D2,missense_variant,p.Gln127His,ENST00000431456,;PIH1D2,missense_variant,p.Gln127His,ENST00000530641,;PIH1D2,missense_variant,p.Gln127His,ENST00000528775,;PIH1D2,missense_variant,p.Gln127His,ENST00000280350,;PIH1D2,missense_variant,p.Gln127His,ENST00000532211,;PIH1D2,missense_variant,p.Gln83His,ENST00000525072,;C11orf57,upstream_gene_variant,,ENST00000531378,;C11orf57,upstream_gene_variant,,ENST00000526879,;C11orf57,upstream_gene_variant,,ENST00000530104,;C11orf57,upstream_gene_variant,,ENST00000525785,;C11orf57,upstream_gene_variant,,ENST00000420986,;C11orf57,upstream_gene_variant,,ENST00000393047,;C11orf57,upstream_gene_variant,,ENST00000280352,;C11orf57,upstream_gene_variant,,ENST00000532163,;PIH1D2,non_coding_transcript_exon_variant,,ENST00000521853,;PIH1D2,missense_variant,p.Gln92His,ENST00000525744,;C11orf57,upstream_gene_variant,,ENST00000524989,;	604	48	54	SUCCESS
KCNJ1	3758	.	GRCh37	11	128709552	128709552	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	29	68	0	ENST00000392664.2:c.644A>G	p.Asn215Ser	p.N215S	ENST00000392664	NM_000220.4	215	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8476.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGATTAGCC	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF6,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000376432	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392664	Transcript	.	.	ENSG00000151704	6255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	IRK1_HUMAN	KCNJ1	HGNC	.	.	UPI000012D891	SNV	KCNJ1,missense_variant,p.Asn196Ser,ENST00000324036,;KCNJ1,missense_variant,p.Asn196Ser,ENST00000440599,;KCNJ1,missense_variant,p.Asn196Ser,ENST00000392666,;KCNJ1,missense_variant,p.Asn215Ser,ENST00000392664,;KCNJ1,missense_variant,p.Asn196Ser,ENST00000392665,;KCNJ1,downstream_gene_variant,,ENST00000324003,;KCNJ1,downstream_gene_variant,,ENST00000531562,;	761	68	68	SUCCESS
COPB1	1315	.	GRCh37	11	14512195	14512195	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	49	159	0	ENST00000249923.3:c.522T>C	p.Pro174=	p.P174=	ENST00000249923	NM_016451.4	174	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7815.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCAGGAGC	NONE	.	.	hmmpanther:PTHR10635,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005727,Superfamily_domains:SSF48371	.	.	ENSP00000249923	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000249923	Transcript	.	.	ENSG00000129083	2231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPB_HUMAN	COPB1	HGNC	E9PP63_HUMAN,E9PKQ1_HUMAN	.	UPI000000103D	SNV	COPB1,synonymous_variant,p.%3D,ENST00000534234,;COPB1,synonymous_variant,p.%3D,ENST00000439561,;COPB1,synonymous_variant,p.%3D,ENST00000249923,;COPB1,downstream_gene_variant,,ENST00000529866,;COPB1,downstream_gene_variant,,ENST00000534771,;PSMA1,downstream_gene_variant,,ENST00000419365,;COPB1,downstream_gene_variant,,ENST00000533096,;COPB1,downstream_gene_variant,,ENST00000533533,;COPB1,downstream_gene_variant,,ENST00000529210,;PSMA1,downstream_gene_variant,,ENST00000555531,;	823	159	141	SUCCESS
OR8H2	390151	.	GRCh37	11	55872580	55872580	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	80	0	ENST00000313503.1:c.62C>T	p.Ser21Phe	p.S21F	ENST00000313503	NM_001005200.1	21	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS31518.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCTGAAG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.03)	.	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.Ser21Phe,ENST00000313503,;	62	80	70	SUCCESS
OR5T3	390154	.	GRCh37	11	56019703	56019703	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746158722	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	62	0	ENST00000303059.3:c.28C>T	p.Leu10Phe	p.L10F	ENST00000303059	NM_001004747.1	10	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31524.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAACCTTTAT	NONE	byFrequency	.	hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87	.	.	ENSP00000305403	.	1/1	.	.	.	.	.	.	.	.	rs746158722	1/1	PASS	ENST00000303059	Transcript	.	.	ENSG00000172489	15297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious_low_confidence(0.02)	.	OR5T3_HUMAN	OR5T3	HGNC	.	.	UPI0000061E96	SNV	OR5T3,missense_variant,p.Leu10Phe,ENST00000303059,;	28	62	53	SUCCESS
AHNAK	79026	.	GRCh37	11	62293842	62293842	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	80	0	ENST00000378024.4:c.8047A>G	p.Ile2683Val	p.I2683V	ENST00000378024	NM_001620.2	2683	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31584.1	8047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATGTTAA	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Ile2683Val,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	8322	80	94	SUCCESS
FAM160A2	0	.	GRCh37	11	6232884	6232884	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	100	0	ENST00000265978.4:c.2813C>A	p.Ala938Asp	p.A938D	ENST00000265978	NM_032127.3	938	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS7760.1	2813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGCATTC	NONE	.	.	hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4	.	.	ENSP00000265978	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000265978	Transcript	.	.	ENSG00000051009	25378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	F16A2_HUMAN	FAM160A2	HGNC	.	.	UPI000013D6B5	SNV	FAM160A2,missense_variant,p.Ala938Asp,ENST00000265978,;FAM160A2,missense_variant,p.Ala924Asp,ENST00000449352,;FAM160A2,downstream_gene_variant,,ENST00000524416,;C11orf42,downstream_gene_variant,,ENST00000316375,;FAM160A2,non_coding_transcript_exon_variant,,ENST00000529360,;	3172	101	66	SUCCESS
OR2D3	120775	.	GRCh37	11	6942232	6942232	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	38	79	0	ENST00000317834.3:c.-1A>C		p.*1*	ENST00000317834	NM_001004684.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31417.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAATGTG	NONE	.	.	.	.	.	ENSP00000320560	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317834	Transcript	.	.	ENSG00000178358	15146	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2D3_HUMAN	OR2D3	HGNC	.	.	UPI0000041C7D	SNV	OR2D3,5_prime_UTR_variant,,ENST00000317834,;	28	79	73	SUCCESS
GIT2	9815	.	GRCh37	12	110370863	110370863	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	60	0	ENST00000355312.3:c.2200C>G	p.Gln734Glu	p.Q734E	ENST00000355312	NM_057169.3	734	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS9138.1	2200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGCTGCG	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF215,Pfam_domain:PF12205	.	.	ENSP00000347464	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000355312	Transcript	.	.	ENSG00000139436	4273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0)	.	GIT2_HUMAN	GIT2	HGNC	.	.	UPI000012B4C5	SNV	GIT2,missense_variant,p.Gln704Glu,ENST00000361006,;GIT2,missense_variant,p.Gln621Glu,ENST00000356259,;GIT2,missense_variant,p.Gln636Glu,ENST00000338373,;GIT2,missense_variant,p.Gln656Glu,ENST00000457474,;GIT2,missense_variant,p.Gln734Glu,ENST00000355312,;GIT2,missense_variant,p.Gln683Glu,ENST00000551209,;GIT2,missense_variant,p.Gln606Glu,ENST00000553118,;GIT2,missense_variant,p.Gln624Glu,ENST00000343646,;GIT2,missense_variant,p.Gln656Glu,ENST00000354574,;GIT2,missense_variant,p.Gln684Glu,ENST00000360185,;GIT2,incomplete_terminal_codon_variant,p.%3D,ENST00000550186,;TCHP,non_coding_transcript_exon_variant,,ENST00000550780,;GIT2,downstream_gene_variant,,ENST00000548000,;GIT2,downstream_gene_variant,,ENST00000546613,;GIT2,downstream_gene_variant,,ENST00000548655,;TCHP,3_prime_UTR_variant,,ENST00000544838,;TCHP,non_coding_transcript_exon_variant,,ENST00000549524,;GIT2,non_coding_transcript_exon_variant,,ENST00000552978,;GIT2,downstream_gene_variant,,ENST00000549999,;	2200	60	50	SUCCESS
PIWIL1	9271	.	GRCh37	12	130832690	130832690	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	93	0	ENST00000245255.3:c.696T>C	p.Tyr232=	p.Y232=	ENST00000245255	NM_004764.4	232	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS9268.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATTATAA	BUFFER|p.R230Q|c.689G>A|3	.	.	Superfamily_domains:SSF101690,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31	.	.	ENSP00000245255	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000245255	Transcript	.	.	ENSG00000125207	9007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL1_HUMAN	PIWIL1	HGNC	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN	.	UPI000007059F	SNV	PIWIL1,synonymous_variant,p.%3D,ENST00000245255,;PIWIL1,synonymous_variant,p.%3D,ENST00000540672,;PIWIL1,downstream_gene_variant,,ENST00000546060,;PIWIL1,downstream_gene_variant,,ENST00000542723,;PIWIL1,downstream_gene_variant,,ENST00000539995,;PIWIL1,downstream_gene_variant,,ENST00000539400,;PIWIL1,downstream_gene_variant,,ENST00000535956,;	968	93	60	SUCCESS
KRT86	3892	.	GRCh37	12	52699514	52699514	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs373358594	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	99	0	ENST00000293525.5:c.968A>T	p.Asn323Ile	p.N323I	ENST00000293525	NM_002284.3	323	aAc/aTc	0	G:0	.	.	.	.	T	N/I	protein_coding	YES	CCDS41785.1	968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCAACGAGC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038	.	G:0.0001	ENSP00000293525	.	6/9	.	.	.	.	.	.	.	.	rs373358594	6/9	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0.01)	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,missense_variant,p.Asn323Ile,ENST00000293525,;KRT86,missense_variant,p.Asn323Ile,ENST00000423955,;KRT86,missense_variant,p.Asn323Ile,ENST00000544024,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	1020	99	94	SUCCESS
MFSD5	84975	.	GRCh37	12	53646678	53646678	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	61	0	ENST00000329548.4:c.59A>G	p.Glu20Gly	p.E20G	ENST00000329548	NM_032889.4	20	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS53796.1	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAACTGT	NONE	.	.	hmmpanther:PTHR24003:SF500,hmmpanther:PTHR24003,Pfam_domain:PF05631	.	.	ENSP00000442688	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000534842	Transcript	.	.	ENSG00000182544	28156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious(0.03)	.	MFSD5_HUMAN	MFSD5	HGNC	F8VV69_HUMAN	.	UPI0000EE2648	SNV	MFSD5,missense_variant,p.Glu20Gly,ENST00000329548,;MFSD5,missense_variant,p.Glu127Gly,ENST00000534842,;MFSD5,missense_variant,p.Glu127Gly,ENST00000551660,;MFSD5,non_coding_transcript_exon_variant,,ENST00000552097,;MFSD5,downstream_gene_variant,,ENST00000546655,;	527	61	61	SUCCESS
IKZF4	64375	.	GRCh37	12	56429110	56429110	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	32	0	ENST00000262032.5:c.1753G>A	p.Gly585Ser	p.G585S	ENST00000262032		585	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS44917.1	1753	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGGCTAG	NONE	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF28	.	.	ENSP00000262032	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262032	Transcript	.	.	ENSG00000123411	13179	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.243)	.	deleterious(0.01)	.	IKZF4_HUMAN	IKZF4	HGNC	G5E9S4_HUMAN	.	UPI000022946D	SNV	IKZF4,missense_variant,p.Gly540Ser,ENST00000547791,;IKZF4,missense_variant,p.Gly585Ser,ENST00000262032,;IKZF4,missense_variant,p.Gly483Ser,ENST00000431367,;IKZF4,missense_variant,p.Gly585Ser,ENST00000547167,;RP11-603J24.4,intron_variant,,ENST00000551846,;IKZF4,downstream_gene_variant,,ENST00000548601,;IKZF4,3_prime_UTR_variant,,ENST00000551103,;IKZF4,non_coding_transcript_exon_variant,,ENST00000551124,;IKZF4,downstream_gene_variant,,ENST00000547556,;	2120	32	44	SUCCESS
SLC26A10	65012	.	GRCh37	12	58015473	58015473	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	63	0	ENST00000320442.4:c.556A>G	p.Thr186Ala	p.T186A	ENST00000320442	NM_133489.2	186	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8949.2	556	RADIA|MUTECT|MUSE	.	CTCAGACGCTG	NONE	.	.	hmmpanther:PTHR11814:SF57,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000320217	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000320442	Transcript	.	.	ENSG00000135502	14470	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	S2610_HUMAN	SLC26A10	HGNC	.	.	UPI000007059E	SNV	SLC26A10,missense_variant,p.Thr186Ala,ENST00000379218,;SLC26A10,missense_variant,p.Thr186Ala,ENST00000320442,;B4GALNT1,downstream_gene_variant,,ENST00000341156,;ARHGEF25,downstream_gene_variant,,ENST00000286494,;ARHGEF25,downstream_gene_variant,,ENST00000333972,;B4GALNT1,downstream_gene_variant,,ENST00000418555,;AC025165.8,upstream_gene_variant,,ENST00000356672,;AC025165.8,upstream_gene_variant,,ENST00000444467,;AC025165.8,upstream_gene_variant,,ENST00000593846,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,missense_variant,p.Thr144Ala,ENST00000440686,;SLC26A10,missense_variant,p.Thr260Ala,ENST00000474359,;SLC26A10,splice_region_variant,,ENST00000463802,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000497297,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;SLC26A10,upstream_gene_variant,,ENST00000487816,;SLC26A10,upstream_gene_variant,,ENST00000474791,;ARHGEF25,downstream_gene_variant,,ENST00000471370,;B4GALNT1,downstream_gene_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;	867	63	43	SUCCESS
VWF	7450	.	GRCh37	12	6128399	6128399	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	39	0	ENST00000261405.5:c.4185G>T	p.Arg1395=	p.R1395=	ENST00000261405	NM_000552.3	1395	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8539.1	4185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCCGGGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000261405	.	28/52	.	.	.	.	.	.	.	.	.	28/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,synonymous_variant,p.%3D,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;	4440	39	39	SUCCESS
GNB3	2784	.	GRCh37	12	6952848	6952848	+	synonymous_variant	Silent	SNP	G	G	T	rs75977062	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	102	0	ENST00000229264.3:c.483G>T	p.Ser161=	p.S161=	ENST00000229264	NM_002075.2	161	tcG/tcT	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS8564.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGGGGGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Superfamily_domains:SSF50978,Prints_domain:PR00320	A:0.001	.	ENSP00000229264	A:0	8/11	.	.	.	.	.	.	.	.	rs75977062	8/11	PASS	ENST00000229264	Transcript	.	.	ENSG00000111664	4400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GBB3_HUMAN	GNB3	HGNC	Q8IWZ9_HUMAN,F5H100_HUMAN,F1T0G5_HUMAN	.	UPI0000030A36	SNV	GNB3,synonymous_variant,p.%3D,ENST00000435982,;GNB3,synonymous_variant,p.%3D,ENST00000541257,;GNB3,synonymous_variant,p.%3D,ENST00000229264,;GNB3,synonymous_variant,p.%3D,ENST00000537035,;GNB3,synonymous_variant,p.%3D,ENST00000541978,;LEPREL2,downstream_gene_variant,,ENST00000251761,;LEPREL2,downstream_gene_variant,,ENST00000396725,;CDCA3,downstream_gene_variant,,ENST00000422785,;CDCA3,downstream_gene_variant,,ENST00000603043,;CDCA3,downstream_gene_variant,,ENST00000604599,;GNB3,non_coding_transcript_exon_variant,,ENST00000540458,;LEPREL2,downstream_gene_variant,,ENST00000290510,;GNB3,downstream_gene_variant,,ENST00000542868,;LEPREL2,downstream_gene_variant,,ENST00000536140,;GNB3,upstream_gene_variant,,ENST00000542751,;GNB3,downstream_gene_variant,,ENST00000539127,;LEPREL2,downstream_gene_variant,,ENST00000606935,;	888	102	71	SUCCESS
CLSTN3	9746	.	GRCh37	12	7288407	7288407	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	61	0	ENST00000266546.6:c.600T>A	p.Ile200=	p.I200=	ENST00000266546	NM_014718.3	200	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS8575.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATTGAGAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000266546	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	SNV	CLSTN3,synonymous_variant,p.%3D,ENST00000537408,;CLSTN3,synonymous_variant,p.%3D,ENST00000266546,;CLSTN3,downstream_gene_variant,,ENST00000539982,;CLSTN3,downstream_gene_variant,,ENST00000535452,;CLSTN3,downstream_gene_variant,,ENST00000545663,;CLSTN3,downstream_gene_variant,,ENST00000541953,;CLSTN3,downstream_gene_variant,,ENST00000534830,;RP11-273B20.1,upstream_gene_variant,,ENST00000538062,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541667,;CLSTN3,upstream_gene_variant,,ENST00000544584,;CLSTN3,upstream_gene_variant,,ENST00000535668,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000540931,;CLSTN3,downstream_gene_variant,,ENST00000538933,;	1050	61	50	SUCCESS
ING1	3621	.	GRCh37	13	111368119	111368119	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779870514	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	25	0	ENST00000375774.3:c.329G>T	p.Arg110Leu	p.R110L	ENST00000375774	NM_005537.4	110	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS9517.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGCTGGC	NONE	byFrequency	.	.	.	.	ENSP00000364929	.	1/2	.	.	.	.	.	.	.	.	rs779870514	1/2	PASS	ENST00000375774	Transcript	.	.	ENSG00000153487	6062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.12)	.	ING1_HUMAN	ING1	HGNC	.	.	UPI000013DD4A	SNV	ING1,missense_variant,p.Arg110Leu,ENST00000375774,;ING1,intron_variant,,ENST00000338450,;ING1,intron_variant,,ENST00000333219,;ING1,intron_variant,,ENST00000375775,;ING1,intron_variant,,ENST00000464141,;CARS2,upstream_gene_variant,,ENST00000544488,;CARS2,upstream_gene_variant,,ENST00000535398,;CARS2,upstream_gene_variant,,ENST00000542126,;CARS2,upstream_gene_variant,,ENST00000537412,;CARS2,upstream_gene_variant,,ENST00000540629,;CARS2,upstream_gene_variant,,ENST00000485188,;	791	25	23	SUCCESS
C1QTNF9B	387911	.	GRCh37	13	24465912	24465912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	92	0	ENST00000382137.3:c.518G>T	p.Gly173Val	p.G173V	ENST00000382137	NM_001007537.1	173	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31947.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACCCTGG	NONE	.	.	hmmpanther:PTHR24022:SF73,hmmpanther:PTHR24022	.	.	ENSP00000371572	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000382137	Transcript	.	.	ENSG00000205863	34072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	C1T9B_HUMAN	C1QTNF9B	HGNC	.	.	UPI000004F070	SNV	C1QTNF9B,missense_variant,p.Gly173Val,ENST00000382137,;C1QTNF9B,missense_variant,p.Gly173Val,ENST00000382140,;C1QTNF9B,intron_variant,,ENST00000382145,;C1QTNF9B,intron_variant,,ENST00000382057,;MIPEP,upstream_gene_variant,,ENST00000382172,;C1QTNF9B-AS1,non_coding_transcript_exon_variant,,ENST00000435039,;C1QTNF9B-AS1,non_coding_transcript_exon_variant,,ENST00000382133,;C1QTNF9B-AS1,intron_variant,,ENST00000417034,;C1QTNF9B,intron_variant,,ENST00000556521,;MIPEP,upstream_gene_variant,,ENST00000469167,;	587	92	83	SUCCESS
RNF17	56163	.	GRCh37	13	25367348	25367348	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	40	108	0	ENST00000255324.5:c.1104T>C	p.Asp368=	p.D368=	ENST00000255324	NM_031277.2	368	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS9308.2	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATGTACA	NONE	.	.	hmmpanther:PTHR16442	.	.	ENSP00000255324	.	10/36	.	.	.	.	.	.	.	.	.	10/36	PASS	ENST00000255324	Transcript	.	.	ENSG00000132972	10060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF17_HUMAN	RNF17	HGNC	.	.	UPI00001FC8BA	SNV	RNF17,synonymous_variant,p.%3D,ENST00000255324,;RNF17,synonymous_variant,p.%3D,ENST00000381921,;RNF17,synonymous_variant,p.%3D,ENST00000255325,;RNF17,non_coding_transcript_exon_variant,,ENST00000255326,;	1156	108	94	SUCCESS
HMGB1	3146	.	GRCh37	13	31035522	31035522	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	25	51	0	ENST00000339872.4:c.620A>T	p.Asp207Val	p.D207V	ENST00000339872		207	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9335.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATCTTCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF157	.	.	ENSP00000384678	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000405805	Transcript	.	.	ENSG00000189403	4983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.21)	.	HMGB1_HUMAN	HMGB1	HGNC	Q9NYD7_HUMAN,Q5T7C0_HUMAN	.	UPI00000015ED	SNV	HMGB1,missense_variant,p.Asp207Val,ENST00000405805,;HMGB1,missense_variant,p.Asp207Val,ENST00000339872,;HMGB1,missense_variant,p.Asp207Val,ENST00000399494,;HMGB1,missense_variant,p.Asp207Val,ENST00000341423,;HMGB1,3_prime_UTR_variant,,ENST00000399489,;HMGB1,downstream_gene_variant,,ENST00000398908,;HMGB1,downstream_gene_variant,,ENST00000326004,;HMGB1,downstream_gene_variant,,ENST00000490788,;HMGB1,downstream_gene_variant,,ENST00000468384,;	1561	51	51	SUCCESS
ITM2B	9445	.	GRCh37	13	48807572	48807572	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	57	103	0	ENST00000378565.5:c.76G>T	p.Ala26Ser	p.A26S	ENST00000378565	NM_021999.4	26	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9409.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGCGCTC	NONE	.	.	hmmpanther:PTHR10962,hmmpanther:PTHR10962:SF4	.	.	ENSP00000367828	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000378565	Transcript	.	.	ENSG00000136156	6174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.22)	.	ITM2B_HUMAN	ITM2B	HGNC	Q5W0A3_HUMAN	.	UPI00000009FF	SNV	ITM2B,missense_variant,p.Ala26Ser,ENST00000378549,;ITM2B,missense_variant,p.Ala26Ser,ENST00000378565,;	279	103	138	SUCCESS
PCK2	5106	.	GRCh37	14	24568418	24568418	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000216780.4:c.825T>C	p.Asp275=	p.D275=	ENST00000216780	NM_004563.2	275	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS9609.1	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGATGAGGG	NONE	.	.	Superfamily_domains:SSF68923,PIRSF_domain:PIRSF001348,Gene3D:3.40.449.10,Pfam_domain:PF00821,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452	.	.	ENSP00000216780	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,synonymous_variant,p.%3D,ENST00000216780,;PCK2,synonymous_variant,p.%3D,ENST00000561286,;PCK2,synonymous_variant,p.%3D,ENST00000559250,;PCK2,synonymous_variant,p.%3D,ENST00000396973,;PCK2,synonymous_variant,p.%3D,ENST00000545054,;PCK2,synonymous_variant,p.%3D,ENST00000558096,;NRL,intron_variant,,ENST00000558280,;NRL,intron_variant,,ENST00000561028,;NRL,upstream_gene_variant,,ENST00000396997,;PCK2,upstream_gene_variant,,ENST00000559171,;PCK2,downstream_gene_variant,,ENST00000559837,;PCK2,downstream_gene_variant,,ENST00000560736,;PCK2,downstream_gene_variant,,ENST00000560657,;PCK2,synonymous_variant,p.%3D,ENST00000559503,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,intron_variant,,ENST00000561050,;PCK2,downstream_gene_variant,,ENST00000560106,;PCK2,downstream_gene_variant,,ENST00000559584,;PCK2,upstream_gene_variant,,ENST00000557969,;	1093	17	15	SUCCESS
PCK2	5106	.	GRCh37	14	24572747	24572747	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	95	0	ENST00000216780.4:c.1497C>T	p.Ala499=	p.A499=	ENST00000216780	NM_004563.2	499	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9609.1	1497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCATGCG	NONE	.	.	Superfamily_domains:SSF53795,PIRSF_domain:PIRSF001348,Pfam_domain:PF00821,Gene3D:3.90.228.20,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452	.	.	ENSP00000216780	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,synonymous_variant,p.%3D,ENST00000216780,;PCK2,synonymous_variant,p.%3D,ENST00000561286,;PCK2,synonymous_variant,p.%3D,ENST00000558096,;PCK2,synonymous_variant,p.%3D,ENST00000545054,;PCK2,intron_variant,,ENST00000559171,;NRL,intron_variant,,ENST00000558280,;NRL,intron_variant,,ENST00000561028,;PCK2,intron_variant,,ENST00000559250,;PCK2,downstream_gene_variant,,ENST00000396973,;PCK2,downstream_gene_variant,,ENST00000559837,;PCK2,downstream_gene_variant,,ENST00000560736,;PCK2,non_coding_transcript_exon_variant,,ENST00000557969,;PCK2,downstream_gene_variant,,ENST00000560106,;PCK2,downstream_gene_variant,,ENST00000559503,;PCK2,downstream_gene_variant,,ENST00000558674,;PCK2,downstream_gene_variant,,ENST00000561050,;	1765	95	84	SUCCESS
ATP10A	57194	.	GRCh37	15	25928550	25928550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	72	164	0	ENST00000356865.6:c.3375C>A	p.Phe1125Leu	p.F1125L	ENST00000356865	NM_024490.3	1125	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS32178.1	3375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000349325	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.26)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Phe1125Leu,ENST00000356865,;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,non_coding_transcript_exon_variant,,ENST00000555450,;	3487	164	162	SUCCESS
NOP10	55505	.	GRCh37	15	34635263	34635263	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	83	0	ENST00000328848.4:c.12G>T	p.Gln4His	p.Q4H	ENST00000328848	NM_018648.3	4	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS10037.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATACTGGAG	NONE	.	.	hmmpanther:PTHR13305,hmmpanther:PTHR13305:SF0,Pfam_domain:PF04135,Superfamily_domains:SSF144210	.	.	ENSP00000332198	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000328848	Transcript	1	.	ENSG00000182117	14378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	deleterious(0.04)	.	NOP10_HUMAN	NOP10	HGNC	.	.	UPI0000022AEE	SNV	NOP10,missense_variant,p.Gln4His,ENST00000328848,;NOP10,missense_variant,p.Gln4His,ENST00000557912,;NUTM1,upstream_gene_variant,,ENST00000537011,;NUTM1,upstream_gene_variant,,ENST00000333756,;NUTM1,upstream_gene_variant,,ENST00000438749,;	116	83	74	SUCCESS
SPG11	80208	.	GRCh37	15	44859685	44859685	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	53	0	ENST00000261866.7:c.6691A>G	p.Ile2231Val	p.I2231V	ENST00000261866	NM_025137.3	2231	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS10112.1	6691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAATCTCCC	NONE	.	.	hmmpanther:PTHR13650,Pfam_domain:PF14649	.	.	ENSP00000261866	.	36/40	.	.	.	.	.	.	.	.	.	36/40	PASS	ENST00000261866	Transcript	1	.	ENSG00000104133	11226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	deleterious(0)	.	SPTCS_HUMAN	SPG11	HGNC	H0YN96_HUMAN,C4B7M3_HUMAN	.	UPI0000456840	SNV	SPG11,missense_variant,p.Ile2118Val,ENST00000535302,;SPG11,missense_variant,p.Ile355Val,ENST00000559511,;SPG11,missense_variant,p.Ile128Val,ENST00000558138,;SPG11,missense_variant,p.Ile2231Val,ENST00000261866,;SPG11,missense_variant,p.Ile2231Val,ENST00000427534,;EIF3J,downstream_gene_variant,,ENST00000261868,;SPG11,non_coding_transcript_exon_variant,,ENST00000559347,;SPG11,non_coding_transcript_exon_variant,,ENST00000561268,;SPG11,upstream_gene_variant,,ENST00000560299,;EIF3J,downstream_gene_variant,,ENST00000558353,;SPG11,downstream_gene_variant,,ENST00000559933,;	6708	53	49	SUCCESS
ISLR2	57611	.	GRCh37	15	74427119	74427119	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	50	0	ENST00000361742.3:c.2024A>G	p.Glu675Gly	p.E675G	ENST00000361742	NM_001130136.1	675	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10259.1	2024	MUTECT|MUSE	.	GGGGGAGGGCC	NONE	.	.	hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366	.	.	ENSP00000355402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361742	Transcript	.	.	ENSG00000167178	29286	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.326)	.	tolerated(0.3)	.	ISLR2_HUMAN	ISLR2	HGNC	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN	.	UPI000004C60F	SNV	ISLR2,missense_variant,p.Glu675Gly,ENST00000565540,;ISLR2,missense_variant,p.Glu675Gly,ENST00000445793,;ISLR2,missense_variant,p.Glu675Gly,ENST00000453268,;ISLR2,missense_variant,p.Glu675Gly,ENST00000361742,;ISLR2,missense_variant,p.Glu675Gly,ENST00000419208,;ISLR2,missense_variant,p.Glu675Gly,ENST00000435464,;ISLR2,missense_variant,p.Glu675Gly,ENST00000565159,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	2793	50	61	SUCCESS
SEMA4B	10509	.	GRCh37	15	90764627	90764627	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	57	0	ENST00000411539.2:c.624C>T	p.Ser208=	p.S208=	ENST00000411539	NM_198925.2	208	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45347.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGCAGCTT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF14,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000394720	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000411539	Transcript	.	.	ENSG00000185033	10730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SEMA4B	HGNC	Q4VBY2_HUMAN,J3KNP4_HUMAN,H0YMR1_HUMAN,H0YMD6_HUMAN,H0YLN3_HUMAN	.	UPI0000197391	SNV	SEMA4B,synonymous_variant,p.%3D,ENST00000379122,;SEMA4B,synonymous_variant,p.%3D,ENST00000411539,;SEMA4B,synonymous_variant,p.%3D,ENST00000332496,;SEMA4B,upstream_gene_variant,,ENST00000559247,;SEMA4B,downstream_gene_variant,,ENST00000558051,;SEMA4B,upstream_gene_variant,,ENST00000559074,;SEMA4B,downstream_gene_variant,,ENST00000559322,;SEMA4B,downstream_gene_variant,,ENST00000559792,;SEMA4B,downstream_gene_variant,,ENST00000561085,;SEMA4B,downstream_gene_variant,,ENST00000558895,;SEMA4B,upstream_gene_variant,,ENST00000559983,;SEMA4B,3_prime_UTR_variant,,ENST00000560089,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000558848,;SEMA4B,downstream_gene_variant,,ENST00000559300,;SEMA4B,upstream_gene_variant,,ENST00000560993,;SEMA4B,upstream_gene_variant,,ENST00000561252,;SEMA4B,downstream_gene_variant,,ENST00000560003,;SEMA4B,upstream_gene_variant,,ENST00000558975,;	884	57	65	SUCCESS
MAPK8IP3	23162	.	GRCh37	16	1816360	1816360	+	synonymous_variant	Silent	SNP	C	C	T	rs747462024	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	95	0	ENST00000250894.4:c.2766C>T	p.His922=	p.H922=	ENST00000250894	NM_015133.3	922	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS10442.2	2766	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACGTCTT	NONE	.	.	hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3	.	.	ENSP00000250894	.	22/32	.	.	.	.	.	.	.	.	rs747462024	22/32	PASS	ENST00000250894	Transcript	.	.	ENSG00000138834	6884	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JIP3_HUMAN	MAPK8IP3	HGNC	.	.	UPI000034ECA7	SNV	MAPK8IP3,synonymous_variant,p.%3D,ENST00000356010,;MAPK8IP3,synonymous_variant,p.%3D,ENST00000250894,;NME3,downstream_gene_variant,,ENST00000564628,;NME3,downstream_gene_variant,,ENST00000219302,;NME3,downstream_gene_variant,,ENST00000563498,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000567352,;NME3,downstream_gene_variant,,ENST00000563854,;MAPK8IP3,upstream_gene_variant,,ENST00000566064,;NME3,downstream_gene_variant,,ENST00000564252,;MAPK8IP3,downstream_gene_variant,,ENST00000570131,;NME3,downstream_gene_variant,,ENST00000565379,;NME3,downstream_gene_variant,,ENST00000567271,;NME3,downstream_gene_variant,,ENST00000568561,;MAPK8IP3,upstream_gene_variant,,ENST00000563868,;NME3,downstream_gene_variant,,ENST00000566600,;MAPK8IP3,downstream_gene_variant,,ENST00000566589,;MAPK8IP3,downstream_gene_variant,,ENST00000561949,;MAPK8IP3,upstream_gene_variant,,ENST00000562042,;NME3,downstream_gene_variant,,ENST00000561637,;NME3,downstream_gene_variant,,ENST00000563367,;MAPK8IP3,upstream_gene_variant,,ENST00000564868,;	2923	95	100	SUCCESS
FAM92B	0	.	GRCh37	16	85132897	85132897	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	80	0	ENST00000539556.1:c.809C>T	p.Ala270Val	p.A270V	ENST00000539556	NM_198491.1	270	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32500.1	809	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGGCATGA	NONE	.	.	hmmpanther:PTHR21223:SF3,hmmpanther:PTHR21223	.	.	ENSP00000443411	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000539556	Transcript	.	.	ENSG00000153789	24781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.11)	.	FA92B_HUMAN	FAM92B	HGNC	.	.	UPI00001C0C61	SNV	FAM92B,missense_variant,p.Ala270Val,ENST00000539556,;	965	80	57	SUCCESS
TTC19	54902	.	GRCh37	17	15930009	15930023	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GCACAGAGGTAGGTA	GCACAGAGGTAGGTA	-	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	GCACAGAGGTAGGTA	GCACAGAGGTAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	93	0	ENST00000261647.5:c.990_994+10del		p.X330_splice	ENST00000261647	NM_001271420.1	330		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11174.2	987-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGATGCACAGAGGTAGGTAGCAAT	NONE	.	.	.	.	.	ENSP00000261647	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000261647	Transcript	.	.	ENSG00000011295	26006	3	.	HIGH	9/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC19_HUMAN	TTC19	HGNC	.	.	UPI0000042226	deletion	TTC19,splice_donor_variant,,ENST00000486880,;TTC19,splice_donor_variant,,ENST00000470649,;TTC19,splice_donor_variant,,ENST00000261647,;TTC19,stop_lost,,ENST00000578103,;NCOR1,downstream_gene_variant,,ENST00000395851,;NCOR1,downstream_gene_variant,,ENST00000268712,;TTC19,splice_donor_variant,,ENST00000497842,;TTC19,splice_donor_variant,,ENST00000481107,;TTC19,splice_donor_variant,,ENST00000475723,;TTC19,non_coding_transcript_exon_variant,,ENST00000465567,;NCOR1,downstream_gene_variant,,ENST00000464381,;NCOR1,downstream_gene_variant,,ENST00000470782,;	1456-?	93	79	SUCCESS
SUZ12P	0	.	GRCh37	17	29061786	29061786	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	88	0	ENST00000582557.1:n.706G>A		p.*236*	ENST00000582557				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCGATATA	NONE	.	4377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000581019	Transcript	.	.	ENSG00000263603	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2349P21.5	Clone_based_vega_gene	.	.	.	SNV	CTD-2349P21.5,downstream_gene_variant,,ENST00000581019,;CTD-2349P21.5,downstream_gene_variant,,ENST00000579639,;SUZ12P,non_coding_transcript_exon_variant,,ENST00000582557,;SUZ12P,intron_variant,,ENST00000579526,;SUZ12P,intron_variant,,ENST00000497969,;SUZ12P,intron_variant,,ENST00000578070,;SUZ12P,intron_variant,,ENST00000578195,;	.	89	70	SUCCESS
FZD2	2535	.	GRCh37	17	42635670	42635675	+	inframe_deletion	In_Frame_Del	DEL	TCAAGG	TCAAGG	-	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	TCAAGG	TCAAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	50	0	ENST00000315323.3:c.615_620del	p.Lys206_Val207del	p.K206_V207del	ENST00000315323	NM_001466.3	205	cTCAAGGtg/ctg	0	.	.	.	.	.	-	LKV/L	protein_coding	YES	CCDS11484.1	614-619	INDELOCATOR*|PINDEL	.	GCGTCCTCAAGGTGCCA	NONE	.	.	hmmpanther:PTHR11309:SF34,hmmpanther:PTHR11309	.	.	ENSP00000323901	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315323	Transcript	.	.	ENSG00000180340	4040	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FZD2_HUMAN	FZD2	HGNC	Q86UZ8_HUMAN	.	UPI0000050444	deletion	FZD2,inframe_deletion,p.Lys206_Val207del,ENST00000315323,;	746-751	50	33	SUCCESS
GLP2R	9340	.	GRCh37	17	9729508	9729508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	42	0	ENST00000262441.5:c.128G>A	p.Cys43Tyr	p.C43Y	ENST00000262441	NM_004246.1	43	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS11150.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGCTCTC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269	.	.	ENSP00000262441	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000262441	Transcript	.	.	ENSG00000065325	4325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	GLP2R_HUMAN	GLP2R	HGNC	I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN	.	UPI0000050469	SNV	GLP2R,missense_variant,p.Cys43Tyr,ENST00000262441,;GLP2R,intron_variant,,ENST00000574745,;RP11-477N12.3,upstream_gene_variant,,ENST00000399363,;GLP2R,missense_variant,p.Cys43Tyr,ENST00000458005,;	641	42	33	SUCCESS
ZNF627	199692	.	GRCh37	19	11728607	11728607	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776795401	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	37	0	ENST00000361113.5:c.1289G>A	p.Arg430Gln	p.R430Q	ENST00000361113	NM_145295.3	430	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS42502.1	1289	MUTECT|MUSE	.	CAGTCGATCCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354414	.	4/4	.	.	.	.	.	.	.	.	rs776795401	4/4	PASS	ENST00000361113	Transcript	.	.	ENSG00000198551	30570	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.2)	.	tolerated(0.29)	.	ZN627_HUMAN	ZNF627	HGNC	K7ELG4_HUMAN	.	UPI0000071491	SNV	ZNF627,missense_variant,p.Arg430Gln,ENST00000361113,;ZNF627,3_prime_UTR_variant,,ENST00000588174,;ZNF627,downstream_gene_variant,,ENST00000587939,;ZNF627,downstream_gene_variant,,ENST00000585493,;	1497	37	36	SUCCESS
ZNF878	729747	.	GRCh37	19	12154963	12154963	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1375796452	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	54	0	ENST00000547628.1:c.1253C>T	p.Thr418Ile	p.T418I	ENST00000547628	NM_001080404.2	418	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS45984.2	1253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGTGTGA	BUFFER|p.R415Q|c.1244G>A|5,BUFFER|p.R415Q|c.1244G>A|5,BUFFER|p.R462Q|c.1385G>A|5	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000447931	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000547628	Transcript	.	.	ENSG00000257446	37246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0.01)	.	ZN878_HUMAN	ZNF878	HGNC	.	.	UPI00001D8268	SNV	ZNF878,missense_variant,p.Thr418Ile,ENST00000547628,;ZNF878,missense_variant,p.Thr465Ile,ENST00000602107,;CTD-2006C1.2,intron_variant,,ENST00000591898,;CTD-2006C1.2,intron_variant,,ENST00000476474,;CTD-2006C1.2,intron_variant,,ENST00000591838,;CTD-2006C1.10,intron_variant,,ENST00000547473,;	1391	54	45	SUCCESS
POP4	10775	.	GRCh37	19	30099579	30099579	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	52	0	ENST00000585603.1:c.23C>T	p.Ala8Val	p.A8V	ENST00000585603		8	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12416.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCATTGT	NONE	.	.	hmmpanther:PTHR13348,PIRSF_domain:PIRSF027081	.	.	ENSP00000465213	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000585603	Transcript	.	.	ENSG00000105171	30081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.05)	.	RPP29_HUMAN	POP4	HGNC	.	.	UPI0000034DFA	SNV	POP4,missense_variant,p.Ala8Val,ENST00000585603,;POP4,missense_variant,p.His2Tyr,ENST00000392279,;POP4,missense_variant,p.Ala37Val,ENST00000590688,;POP4,missense_variant,p.Ala8Val,ENST00000586420,;POP4,5_prime_UTR_variant,,ENST00000221770,;POP4,non_coding_transcript_exon_variant,,ENST00000586136,;POP4,non_coding_transcript_exon_variant,,ENST00000591824,;POP4,upstream_gene_variant,,ENST00000592759,;POP4,missense_variant,p.Ala8Val,ENST00000591061,;POP4,missense_variant,p.Ala8Val,ENST00000586823,;POP4,non_coding_transcript_exon_variant,,ENST00000588551,;POP4,non_coding_transcript_exon_variant,,ENST00000586173,;POP4,upstream_gene_variant,,ENST00000592749,;	2325	52	40	SUCCESS
FGF21	26291	.	GRCh37	19	49259647	49259647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	43	0	ENST00000222157.3:c.154G>A	p.Asp52Asn	p.D52N	ENST00000222157	NM_019113.2	52	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12734.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGATGAT	NONE	.	.	hmmpanther:PTHR11486:SF62,hmmpanther:PTHR11486,Gene3D:2.80.10.50,PIRSF_domain:PIRSF037961,SMART_domains:SM00442,Superfamily_domains:SSF50353	.	.	ENSP00000471477	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000593756	Transcript	.	.	ENSG00000105550	3678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	tolerated(0.19)	.	FGF21_HUMAN	FGF21	HGNC	.	.	UPI000003BE44	SNV	FGF21,missense_variant,p.Asp52Asn,ENST00000593756,;FGF21,missense_variant,p.Asp52Asn,ENST00000222157,;FUT1,upstream_gene_variant,,ENST00000310160,;FUT1,upstream_gene_variant,,ENST00000601931,;FUT1,upstream_gene_variant,,ENST00000597220,;FUT1,upstream_gene_variant,,ENST00000599826,;FUT1,upstream_gene_variant,,ENST00000601988,;	726	43	42	SUCCESS
RUVBL2	10856	.	GRCh37	19	49506571	49506571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	87	0	ENST00000595090.1:c.103G>A	p.Asp35Asn	p.D35N	ENST00000595090	NM_006666.1	35	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS42588.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACGATGCC	NONE	.	.	hmmpanther:PTHR11093,Pfam_domain:PF06068	.	.	ENSP00000473172	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000595090	Transcript	.	.	ENSG00000183207	10475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	tolerated(0.1)	.	RUVB2_HUMAN	RUVBL2	HGNC	M0QXI6_HUMAN,B3KQ59_HUMAN	.	UPI0000044738	SNV	RUVBL2,missense_variant,p.Asp35Asn,ENST00000595090,;RUVBL2,5_prime_UTR_variant,,ENST00000413176,;RUVBL2,5_prime_UTR_variant,,ENST00000601968,;RUVBL2,5_prime_UTR_variant,,ENST00000596837,;RUVBL2,downstream_gene_variant,,ENST00000598768,;RUVBL2,missense_variant,p.Asp35Asn,ENST00000596247,;RUVBL2,missense_variant,p.Asp35Asn,ENST00000221413,;RUVBL2,3_prime_UTR_variant,,ENST00000593570,;RUVBL2,3_prime_UTR_variant,,ENST00000595811,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594017,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594338,;	567	87	75	SUCCESS
TPGS1	91978	.	GRCh37	19	519025	519025	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	36	0	ENST00000359315.5:c.475G>A	p.Glu159Lys	p.E159K	ENST00000359315	NM_033513.2	159	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS42454.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGAGGTG	NONE	.	.	hmmpanther:PTHR31932	.	.	ENSP00000352265	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000359315	Transcript	.	.	ENSG00000141933	25058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	tolerated(0.05)	.	TPGS1_HUMAN	TPGS1	HGNC	.	.	UPI0000202E14	SNV	TPGS1,missense_variant,p.Glu159Lys,ENST00000359315,;	683	36	42	SUCCESS
SIGLEC5	8778	.	GRCh37	19	52130954	52130954	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781270936	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	30	0	ENST00000534261.2:c.1043G>A	p.Gly348Asp	p.G348D	ENST00000534261		348	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS33088.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACCCTCA	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Superfamily_domains:SSF48726	.	.	ENSP00000455510	.	6/9	.	.	.	.	.	.	.	.	rs781270936	6/9	PASS	ENST00000570106	Transcript	.	.	ENSG00000105501	10874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	tolerated(0.08)	.	SIGL5_HUMAN	SIGLEC5	HGNC	.	.	UPI000011B40C	SNV	SIGLEC5,missense_variant,p.Gly348Asp,ENST00000534261,;SIGLEC5,missense_variant,p.Gly348Asp,ENST00000599649,;SIGLEC5,missense_variant,p.Gly348Asp,ENST00000570106,;SIGLEC5,missense_variant,p.Gly348Asp,ENST00000429354,;SIGLEC5,missense_variant,p.Gly348Asp,ENST00000222107,;	1043	30	42	SUCCESS
ADAMTS10	81794	.	GRCh37	19	8661267	8661267	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1412146494	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	43	0	ENST00000597188.1:c.1114C>T	p.Arg372Cys	p.R372C	ENST00000597188	NM_030957.2	372	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12206.1	1114	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCGCTCAC	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01421,hmmpanther:PTHR13723:SF26,hmmpanther:PTHR13723,PROSITE_profiles:PS50215	.	.	ENSP00000270328	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000270328	Transcript	1	.	ENSG00000142303	13201	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.939)	.	deleterious(0.03)	.	ATS10_HUMAN	ADAMTS10	HGNC	.	.	UPI000013D883	SNV	ADAMTS10,missense_variant,p.Arg372Cys,ENST00000597188,;ADAMTS10,missense_variant,p.Arg372Cys,ENST00000270328,;ADAMTS10,upstream_gene_variant,,ENST00000595838,;ADAMTS10,downstream_gene_variant,,ENST00000596709,;ADAMTS10,downstream_gene_variant,,ENST00000596466,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,;ADAMTS10,intron_variant,,ENST00000593913,;ADAMTS10,upstream_gene_variant,,ENST00000603221,;ADAMTS10,upstream_gene_variant,,ENST00000596236,;ADAMTS10,upstream_gene_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000593826,;	1381	43	40	SUCCESS
SYT6	148281	.	GRCh37	1	114680598	114680598	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	43	0	ENST00000610222.1:c.590C>T	p.Ala197Val	p.A197V	ENST00000610222		197	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS871.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCTGGT	NONE	.	.	hmmpanther:PTHR10024:SF45,hmmpanther:PTHR10024	.	.	ENSP00000477344	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000609117	Transcript	.	.	ENSG00000134207	18638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.49)	.	.	SYT6	HGNC	I6L9C3_HUMAN,B1AMB7_HUMAN,B1AMB6_HUMAN	.	UPI000000DACA	SNV	SYT6,missense_variant,p.Ala197Val,ENST00000393296,;SYT6,missense_variant,p.Ala112Val,ENST00000607941,;SYT6,missense_variant,p.Ala197Val,ENST00000610222,;SYT6,missense_variant,p.Ala112Val,ENST00000609117,;SYT6,missense_variant,p.Ala112Val,ENST00000369547,;SYT6,missense_variant,p.Ala112Val,ENST00000608203,;SYT6,downstream_gene_variant,,ENST00000609577,;SYT6,downstream_gene_variant,,ENST00000608879,;SYT6,3_prime_UTR_variant,,ENST00000610121,;SYT6,3_prime_UTR_variant,,ENST00000610096,;	639	43	52	SUCCESS
AMPD1	270	.	GRCh37	1	115222318	115222318	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	49	109	0	ENST00000520113.2:c.878C>T	p.Thr293Ile	p.T293I	ENST00000520113		293	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS876.2	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGTATAG	NONE	.	.	hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	.	.	ENSP00000430075	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000520113	Transcript	.	.	ENSG00000116748	468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious(0)	.	AMPD1_HUMAN	AMPD1	HGNC	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN	.	UPI0000470A27	SNV	AMPD1,missense_variant,p.Thr260Ile,ENST00000353928,;AMPD1,missense_variant,p.Thr293Ile,ENST00000520113,;AMPD1,missense_variant,p.Thr289Ile,ENST00000369538,;AMPD1,non_coding_transcript_exon_variant,,ENST00000485564,;	894	109	107	SUCCESS
ADAM30	11085	.	GRCh37	1	120438999	120438999	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	29	44	0	ENST00000369400.1:c.-40G>A		p.*14*	ENST00000369400	NM_021794.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS907.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCTGCAA	NONE	.	.	.	.	.	ENSP00000358407	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369400	Transcript	.	.	ENSG00000134249	208	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA30_HUMAN	ADAM30	HGNC	.	.	UPI000004C638	SNV	ADAM30,5_prime_UTR_variant,,ENST00000369400,;	120	44	55	SUCCESS
TNFRSF8	943	.	GRCh37	1	12123646	12123646	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs972042214	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	33	63	0	ENST00000263932.2:c.-10G>T		p.*4*	ENST00000263932	NM_001243.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS144.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCGGCCCC	NONE	.	.	.	.	.	ENSP00000263932	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000263932	Transcript	.	.	ENSG00000120949	11923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TNFRSF8	HGNC	A5D8T4_HUMAN	.	UPI000013D48C	SNV	TNFRSF8,5_prime_UTR_variant,,ENST00000417814,;TNFRSF8,5_prime_UTR_variant,,ENST00000263932,;TNFRSF8,5_prime_UTR_variant,,ENST00000514649,;	213	63	89	SUCCESS
FLG	2312	.	GRCh37	1	152283840	152283840	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	58	72	0	ENST00000368799.1:c.3522A>T	p.Gly1174=	p.G1174=	ENST00000368799	NM_002016.1	1174	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30860.1	3522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCCTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	3558	72	105	SUCCESS
CCT3	7203	.	GRCh37	1	156303356	156303356	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs779997484	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	33	34	0	ENST00000295688.3:c.286A>T	p.Thr96Ser	p.T96S	ENST00000295688	NM_005998.4	96	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1140.2	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTGGTCC	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592,Prints_domain:PR00304	.	.	ENSP00000295688	.	5/14	.	.	.	.	.	.	.	.	rs779997484	5/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	deleterious(0.01)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Thr51Ser,ENST00000368261,;CCT3,missense_variant,p.Thr58Ser,ENST00000368259,;CCT3,missense_variant,p.Thr75Ser,ENST00000478640,;CCT3,missense_variant,p.Thr82Ser,ENST00000446905,;CCT3,missense_variant,p.Thr17Ser,ENST00000533194,;CCT3,missense_variant,p.Thr120Ser,ENST00000413555,;CCT3,missense_variant,p.Thr96Ser,ENST00000496684,;CCT3,missense_variant,p.Thr51Ser,ENST00000472765,;CCT3,missense_variant,p.Thr96Ser,ENST00000295688,;CCT3,missense_variant,p.Thr96Ser,ENST00000415548,;TSACC,upstream_gene_variant,,ENST00000368253,;TSACC,upstream_gene_variant,,ENST00000368254,;TSACC,upstream_gene_variant,,ENST00000470342,;TSACC,upstream_gene_variant,,ENST00000368255,;CCT3,non_coding_transcript_exon_variant,,ENST00000463132,;CCT3,non_coding_transcript_exon_variant,,ENST00000368256,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;CCT3,downstream_gene_variant,,ENST00000489870,;	567	34	53	SUCCESS
PRCC	5546	.	GRCh37	1	156737670	156737670	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs750560253	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	52	167	0	ENST00000271526.4:c.107G>C	p.Gly36Ala	p.G36A	ENST00000271526	NM_005973.4	36	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS1157.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGGGGGCT	NONE	.	.	hmmpanther:PTHR13621	.	.	ENSP00000271526	.	1/7	.	.	.	.	.	.	.	.	rs750560253	1/7	PASS	ENST00000271526	Transcript	.	.	ENSG00000143294	9343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	PRCC_HUMAN	PRCC	HGNC	.	.	UPI000002EFDB	SNV	PRCC,missense_variant,p.Gly36Ala,ENST00000353233,;PRCC,missense_variant,p.Gly36Ala,ENST00000271526,;PRCC,intron_variant,,ENST00000473387,;PRCC,intron_variant,,ENST00000491853,;HDGF,upstream_gene_variant,,ENST00000465180,;	379	167	206	SUCCESS
SLC9C2	284525	.	GRCh37	1	173556888	173556888	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	58	94	0	ENST00000367714.3:c.439T>A	p.Trp147Arg	p.W147R	ENST00000367714	NM_178527.3	147	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS1308.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCATGAAT	NONE	.	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110,Pfam_domain:PF00999	.	.	ENSP00000356687	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Trp147Arg,ENST00000367714,;SLC9C2,missense_variant,p.Trp45Arg,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;	862	94	121	SUCCESS
KCNT2	343450	.	GRCh37	1	196398776	196398776	+	synonymous_variant	Silent	SNP	A	A	T	rs781404030	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	339	393	0	ENST00000294725.9:c.750T>A	p.Pro250=	p.P250=	ENST00000294725		250	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1384.1	750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAGGAGT	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000294725	.	9/28	.	.	.	.	.	.	.	.	rs781404030	9/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	SNV	KCNT2,synonymous_variant,p.%3D,ENST00000294725,;KCNT2,synonymous_variant,p.%3D,ENST00000367433,;KCNT2,synonymous_variant,p.%3D,ENST00000367431,;KCNT2,synonymous_variant,p.%3D,ENST00000609185,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,upstream_gene_variant,,ENST00000466914,;	1666	393	564	SUCCESS
RYR2	6262	.	GRCh37	1	237804207	237804207	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	50	52	0	ENST00000366574.2:c.7126G>T	p.Glu2376Ter	p.E2376*	ENST00000366574	NM_001035.2	2376	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS55691.1	7126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGAGGAG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	47/105	.	.	.	.	.	.	.	.	.	47/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,stop_gained,p.Glu2360Ter,ENST00000542537,;RYR2,stop_gained,p.Glu2376Ter,ENST00000366574,;RYR2,stop_gained,p.Glu2374Ter,ENST00000360064,;	7443	52	75	SUCCESS
OR1C1	26188	.	GRCh37	1	247921219	247921219	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	125	133	0	ENST00000408896.2:c.490G>A	p.Ala164Thr	p.A164T	ENST00000408896	NM_012353.2	164	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41481.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCTATTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF108,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000386138	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408896	Transcript	.	.	ENSG00000221888	8182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.28)	.	OR1C1_HUMAN	OR1C1	HGNC	.	.	UPI000004B1DC	SNV	OR1C1,missense_variant,p.Ala164Thr,ENST00000408896,;	764	134	192	SUCCESS
OR2T8	343172	.	GRCh37	1	248084934	248084934	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	86	81	0	ENST00000319968.4:c.615C>T	p.Leu205=	p.L205=	ENST00000319968	NM_001005522.1	205	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31100.1	615	RADIA|SOMATICSNIPER|VARSCANS	.	ATGCTCCTGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF147,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319968	Transcript	.	.	ENSG00000177462	15020	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR2T8_HUMAN	OR2T8	HGNC	.	.	UPI00001999E3	SNV	OR2T8,synonymous_variant,p.%3D,ENST00000319968,;	615	81	115	SUCCESS
OR14C36	127066	.	GRCh37	1	248512967	248512967	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	90	0	ENST00000317861.1:c.891G>A	p.Val297=	p.V297=	ENST00000317861	NM_001001918.1	297	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31112.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGGCCAT	NONE	.	.	hmmpanther:PTHR26452:SF180,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324534	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317861	Transcript	.	.	ENSG00000177174	15026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O14CZ_HUMAN	OR14C36	HGNC	.	.	UPI0000041CB1	SNV	OR14C36,synonymous_variant,p.%3D,ENST00000317861,;	891	90	112	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55158176	55158176	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs537957753	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	42	0	ENST00000414150.2:c.2791G>A	p.Gly931Ser	p.G931S	ENST00000414150		931	Ggc/Agc	0	.	A:0	.	A:0	.	A	G/S	protein_coding	YES	CCDS41342.2	2791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGGCTGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9	A:0	.	ENSP00000396622	A:0	16/24	.	.	.	.	.	.	.	.	rs537957753	16/24	PASS	ENST00000421030	Transcript	.	A:0.0010	ENSG00000184313	24802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0.0051	deleterious(0.01)	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,missense_variant,p.Gly449Ser,ENST00000454855,;MROH7,missense_variant,p.Gly499Ser,ENST00000409996,;MROH7,missense_variant,p.Gly931Ser,ENST00000395690,;MROH7,missense_variant,p.Gly931Ser,ENST00000421030,;MROH7,missense_variant,p.Gly499Ser,ENST00000545244,;MROH7,missense_variant,p.Gly931Ser,ENST00000339553,;MROH7-TTC4,missense_variant,p.Gly931Ser,ENST00000414150,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,non_coding_transcript_exon_variant,,ENST00000493533,;MROH7,upstream_gene_variant,,ENST00000371287,;	3076	42	65	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55158177	55158177	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	43	0	ENST00000414150.2:c.2792G>C	p.Gly931Ala	p.G931A	ENST00000414150		931	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS41342.2	2792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGCTGGG	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9	.	.	ENSP00000396622	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,missense_variant,p.Gly449Ala,ENST00000454855,;MROH7,missense_variant,p.Gly499Ala,ENST00000409996,;MROH7,missense_variant,p.Gly931Ala,ENST00000395690,;MROH7,missense_variant,p.Gly931Ala,ENST00000421030,;MROH7,missense_variant,p.Gly499Ala,ENST00000545244,;MROH7,missense_variant,p.Gly931Ala,ENST00000339553,;MROH7-TTC4,missense_variant,p.Gly931Ala,ENST00000414150,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,non_coding_transcript_exon_variant,,ENST00000493533,;MROH7,upstream_gene_variant,,ENST00000371287,;	3077	43	66	SUCCESS
HOOK1	51361	.	GRCh37	1	60299130	60299130	+	synonymous_variant	Silent	SNP	C	C	T	rs1351608850	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	12	113	1	ENST00000371208.3:c.327C>T	p.Thr109=	p.T109=	ENST00000371208	NM_015888.4	109	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS612.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACCGAATG	NONE	.	.	hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF33,Pfam_domain:PF05622,Superfamily_domains:0050601	.	.	ENSP00000360252	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000371208	Transcript	.	.	ENSG00000134709	19884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HOOK1_HUMAN	HOOK1	HGNC	B1AK95_HUMAN,A8MU44_HUMAN	.	UPI0000071E61	SNV	HOOK1,synonymous_variant,p.%3D,ENST00000371208,;HOOK1,synonymous_variant,p.%3D,ENST00000455990,;HOOK1,synonymous_variant,p.%3D,ENST00000395561,;HOOK1,non_coding_transcript_exon_variant,,ENST00000465876,;	584	114	88	SUCCESS
PTBP2	58155	.	GRCh37	1	97250726	97250726	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	85	0	ENST00000426398.2:c.820C>T	p.Arg274Ter	p.R274*	ENST00000426398	NM_021190.2	274	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS754.1	820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTCGACCT	NONE	.	.	hmmpanther:PTHR11546:SF21,hmmpanther:PTHR11546,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01649,Superfamily_domains:SSF54928	.	.	ENSP00000412788	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000426398	Transcript	.	.	ENSG00000117569	17662	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTBP2_HUMAN	PTBP2	HGNC	.	.	UPI000006F5BE	SNV	PTBP2,stop_gained,p.Arg274Ter,ENST00000426398,;PTBP2,stop_gained,p.Arg274Ter,ENST00000370198,;PTBP2,stop_gained,p.Arg285Ter,ENST00000394184,;PTBP2,stop_gained,p.Arg274Ter,ENST00000370197,;PTBP2,stop_gained,p.Arg243Ter,ENST00000541987,;PTBP2,stop_gained,p.Arg274Ter,ENST00000609116,;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,;PTBP2,non_coding_transcript_exon_variant,,ENST00000476419,;PTBP2,non_coding_transcript_exon_variant,,ENST00000459735,;PTBP2,upstream_gene_variant,,ENST00000476783,;PTBP2,upstream_gene_variant,,ENST00000492905,;	863	85	77	SUCCESS
PIK3CD	5293	.	GRCh37	1	9778944	9778944	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	63	0	ENST00000377346.4:c.1213C>T	p.Arg405Cys	p.R405C	ENST00000377346	NM_005026.3	405	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS104.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCGCTCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Pfam_domain:PF00792,Gene3D:2.60.40.150,SMART_domains:SM00142,Superfamily_domains:SSF49562	.	.	ENSP00000366563	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000377346	Transcript	.	.	ENSG00000171608	8977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PK3CD_HUMAN	PIK3CD	HGNC	B7ZM44_HUMAN	.	UPI000013E807	SNV	PIK3CD,missense_variant,p.Arg370Cys,ENST00000536656,;PIK3CD,missense_variant,p.Arg405Cys,ENST00000377346,;PIK3CD,missense_variant,p.Arg72Cys,ENST00000543390,;PIK3CD,missense_variant,p.Arg370Cys,ENST00000361110,;PIK3CD,downstream_gene_variant,,ENST00000479223,;PIK3CD,downstream_gene_variant,,ENST00000481137,;	1408	63	52	SUCCESS
CST11	140880	.	GRCh37	20	23432513	23432513	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	56	0	ENST00000377009.3:c.273G>T	p.Trp91Cys	p.W91C	ENST00000377009	NM_130794.1	91	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS13155.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTCCACTG	NONE	.	.	hmmpanther:PTHR11413:SF7,hmmpanther:PTHR11413,Pfam_domain:PF00031,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403	.	.	ENSP00000366208	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377009	Transcript	.	.	ENSG00000125831	15959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	CST11_HUMAN	CST11	HGNC	.	.	UPI00000714F3	SNV	CST11,missense_variant,p.Trp91Cys,ENST00000377009,;CST11,intron_variant,,ENST00000377007,;	307	56	55	SUCCESS
EPB41L1	2036	.	GRCh37	20	34778570	34778570	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	49	0	ENST00000338074.2:c.1151A>C	p.Lys384Thr	p.K384T	ENST00000338074	NM_012156.2	384	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS13271.1	1151	MUTECT|MUSE|VARSCANS	.	ACCCAAGGGCT	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF7,Pfam_domain:PF08736,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729	.	.	ENSP00000337168	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000338074	Transcript	1	.	ENSG00000088367	3378	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	E41L1_HUMAN	EPB41L1	HGNC	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN	.	UPI0000129AF8	SNV	EPB41L1,missense_variant,p.Lys384Thr,ENST00000338074,;EPB41L1,missense_variant,p.Lys287Thr,ENST00000373950,;EPB41L1,missense_variant,p.Lys384Thr,ENST00000373941,;EPB41L1,missense_variant,p.Lys322Thr,ENST00000202028,;EPB41L1,missense_variant,p.Lys353Thr,ENST00000373946,;EPB41L1,missense_variant,p.Lys322Thr,ENST00000441639,;EPB41L1,upstream_gene_variant,,ENST00000451082,;EPB41L1,downstream_gene_variant,,ENST00000430276,;	1312	49	37	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3674951	3674951	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	94	0	ENST00000344754.4:c.3173T>A	p.Met1058Lys	p.M1058K	ENST00000344754	NM_023068.3	1058	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS13060.1	3173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCATAGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.43)	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,missense_variant,p.Met1058Lys,ENST00000344754,;SIGLEC1,missense_variant,p.Met1058Lys,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	3173	94	84	SUCCESS
SDC4	6385	.	GRCh37	20	43964503	43964503	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs906595150	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	39	0	ENST00000372733.3:c.118G>A	p.Gly40Arg	p.G40R	ENST00000372733	NM_002999.3	40	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13350.1	118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCGGAGA	NONE	.	.	hmmpanther:PTHR10915	.	.	ENSP00000361818	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000372733	Transcript	.	.	ENSG00000124145	10661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SDC4_HUMAN	SDC4	HGNC	B4E1S6_HUMAN	.	UPI000003B45C	SNV	SDC4,missense_variant,p.Gly40Arg,ENST00000372733,;SDC4,intron_variant,,ENST00000537976,;	158	39	34	SUCCESS
RGPD4	285190	.	GRCh37	2	108443442	108443442	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs556540233	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	57	121	0	ENST00000408999.3:c.-28G>T		p.*10*	ENST00000408999	NM_182588.2			0	.	C:0.0015	.	C:0	.	T	.	protein_coding	YES	CCDS46381.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGCGTCT	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000386810	C:0	1/23	.	.	.	.	.	.	.	.	rs556540233	1/23	PASS	ENST00000408999	Transcript	.	C:0.0004	ENSG00000196862	32417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,5_prime_UTR_variant,,ENST00000408999,;RGPD4,5_prime_UTR_variant,,ENST00000354986,;RGPD4-AS1,upstream_gene_variant,,ENST00000593452,;RGPD4-AS1,upstream_gene_variant,,ENST00000609972,;RGPD4-AS1,upstream_gene_variant,,ENST00000417284,;RGPD4-AS1,upstream_gene_variant,,ENST00000457647,;GACAT1,downstream_gene_variant,,ENST00000441383,;RGPD4-AS1,upstream_gene_variant,,ENST00000609354,;RGPD4-AS1,upstream_gene_variant,,ENST00000594764,;	50	121	126	SUCCESS
ANAPC1	64682	.	GRCh37	2	112545882	112545882	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	494	51	595	1	ENST00000341068.3:c.4728A>G	p.Thr1576=	p.T1576=	ENST00000341068	NM_022662.3	1576	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2093.1	4728	MUTECT|MUSE|VARSCANS	.	TTTGATGTGCT	NONE	.	.	hmmpanther:PTHR12827	.	.	ENSP00000339109	.	39/48	.	.	.	.	.	.	.	.	.	39/48	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	SNV	ANAPC1,synonymous_variant,p.%3D,ENST00000341068,;ANAPC1,synonymous_variant,p.%3D,ENST00000427997,;ANAPC1,downstream_gene_variant,,ENST00000464695,;	5501	596	545	SUCCESS
LRP1B	53353	.	GRCh37	2	141459290	141459290	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	62	0	ENST00000389484.3:c.6427G>A	p.Gly2143Arg	p.G2143R	ENST00000389484	NM_018557.2	2143	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2182.1	6427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCTTTCT	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30	.	.	ENSP00000374135	.	40/91	.	.	.	.	.	.	.	.	.	40/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Gly2143Arg,ENST00000389484,;	7399	62	52	SUCCESS
DDX1	1653	.	GRCh37	2	15758310	15758310	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	68	199	0	ENST00000233084.3:c.1122G>T	p.Gly374=	p.G374=	ENST00000233084	NM_004939.2	374	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1686.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGCTTCT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF211,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000370745	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000381341	Transcript	.	.	ENSG00000079785	2734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX1_HUMAN	DDX1	HGNC	B4DME8_HUMAN,A3RJH1_HUMAN	.	UPI00001290D1	SNV	DDX1,synonymous_variant,p.%3D,ENST00000381341,;DDX1,synonymous_variant,p.%3D,ENST00000233084,;DDX1,non_coding_transcript_exon_variant,,ENST00000459706,;DDX1,upstream_gene_variant,,ENST00000470674,;	1511	199	174	SUCCESS
BAZ2B	29994	.	GRCh37	2	160231234	160231234	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	34	0	ENST00000392783.2:c.4036G>T	p.Glu1346Ter	p.E1346*	ENST00000392783	NM_013450.2	1346	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2209.2	4036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTTCAA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000376534	.	26/37	.	.	.	.	.	.	.	.	.	26/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,stop_gained,p.Glu1312Ter,ENST00000355831,;BAZ2B,stop_gained,p.Glu1310Ter,ENST00000392782,;BAZ2B,stop_gained,p.Glu1246Ter,ENST00000343439,;BAZ2B,stop_gained,p.Glu1346Ter,ENST00000392783,;	4532	34	36	SUCCESS
LRP2	4036	.	GRCh37	2	170101205	170101205	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	46	0	ENST00000263816.3:c.3428G>T	p.Cys1143Phe	p.C1143F	ENST00000263816	NM_004525.2	1143	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS2232.1	3428	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TACTGCAGTTC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	22/79	.	.	.	.	.	.	.	.	.	22/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Cys1143Phe,ENST00000263816,;LRP2,missense_variant,p.Cys1006Phe,ENST00000443831,;	3714	46	38	SUCCESS
FASTKD1	79675	.	GRCh37	2	170428597	170428597	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	30	0	ENST00000453153.2:c.-58T>G		p.*20*	ENST00000453153	NM_024622.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33318.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAATAAGC	NONE	.	.	.	.	.	ENSP00000400513	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000453153	Transcript	.	.	ENSG00000138399	26150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAKD1_HUMAN	FASTKD1	HGNC	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN	.	UPI000050BC4D	SNV	FASTKD1,5_prime_UTR_variant,,ENST00000438035,;FASTKD1,5_prime_UTR_variant,,ENST00000453929,;FASTKD1,5_prime_UTR_variant,,ENST00000453153,;FASTKD1,5_prime_UTR_variant,,ENST00000445210,;FASTKD1,upstream_gene_variant,,ENST00000417376,;	290	30	37	SUCCESS
TTN	7273	.	GRCh37	2	179427083	179427083	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	66	0	ENST00000591111.1:c.78853T>C	p.Leu26285=	p.L26285=	ENST00000591111		26285	Tta/Cta	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS59435.1	83776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTAAGCCAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	84001	66	60	SUCCESS
CDK15	65061	.	GRCh37	2	202698631	202698631	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1030353473	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	87	0	ENST00000450471.2:c.667A>G	p.Arg223Gly	p.R223G	ENST00000450471	NM_001261435.1	223	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS58747.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGGGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF159,hmmpanther:PTHR24056,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000406472	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000450471	Transcript	.	.	ENSG00000138395	14434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CDK15_HUMAN	CDK15	HGNC	.	.	UPI0001D3BDAF	SNV	CDK15,missense_variant,p.Arg223Gly,ENST00000450471,;CDK15,missense_variant,p.Arg223Gly,ENST00000434439,;CDK15,missense_variant,p.Arg172Gly,ENST00000260967,;CDK15,missense_variant,p.Arg223Gly,ENST00000374598,;CDK15,missense_variant,p.Arg172Gly,ENST00000410091,;CDK15,non_coding_transcript_exon_variant,,ENST00000488419,;CDK15,3_prime_UTR_variant,,ENST00000451080,;	753	87	70	SUCCESS
FAM117B	150864	.	GRCh37	2	203630340	203630341	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	80	0	ENST00000392238.2:c.1624dup	p.Met542AsnfsTer44	p.M542Nfs*44	ENST00000392238		541	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS33362.2	1623-1624	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGGCATGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14972:SF6,hmmpanther:PTHR14972	.	.	ENSP00000376071	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000392238	Transcript	.	.	ENSG00000138439	14440	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F117B_HUMAN	FAM117B	HGNC	.	.	UPI00015B3B88	insertion	FAM117B,frameshift_variant,p.Met542AsnfsTer44,ENST00000392238,;FAM117B,frameshift_variant,p.Met298AsnfsTer44,ENST00000303116,;	1623-1624	80	86	SUCCESS
PTPRN	5798	.	GRCh37	2	220161748	220161748	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	25	1	ENST00000295718.2:c.2195A>G	p.Glu732Gly	p.E732G	ENST00000295718	NM_002846.3	732	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2440.1	2195	MUTECT|MUSE	.	TGCCCTCCCCC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000295718	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000295718	Transcript	.	.	ENSG00000054356	9676	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	deleterious(0.01)	.	PTPRN_HUMAN	PTPRN	HGNC	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN	.	UPI0000132999	SNV	PTPRN,missense_variant,p.Glu703Gly,ENST00000409251,;PTPRN,missense_variant,p.Glu642Gly,ENST00000423636,;PTPRN,missense_variant,p.Glu732Gly,ENST00000295718,;PTPRN,upstream_gene_variant,,ENST00000443981,;MIR153-1,upstream_gene_variant,,ENST00000384914,;AC114803.3,upstream_gene_variant,,ENST00000417355,;PTPRN,upstream_gene_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000460801,;	2436	26	38	SUCCESS
OTOF	9381	.	GRCh37	2	26702479	26702479	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142370721	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	94	0	ENST00000272371.2:c.1955G>A	p.Arg652Gln	p.R652Q	ENST00000272371	NM_194248.2	652	cGg/cAg	0	T:0.0002	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS1725.1	1955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCGCTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32	T:0	T:0	ENSP00000272371	T:0	17/47	.	.	.	.	.	.	.	.	rs142370721	17/47	PASS	ENST00000272371	Transcript	.	T:0.0002	ENSG00000115155	8515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	T:0.001	tolerated(0.38)	.	OTOF_HUMAN	OTOF	HGNC	.	.	UPI000013D94D	SNV	OTOF,missense_variant,p.Arg652Gln,ENST00000403946,;OTOF,missense_variant,p.Arg652Gln,ENST00000272371,;OTOF,upstream_gene_variant,,ENST00000338581,;OTOF,upstream_gene_variant,,ENST00000339598,;OTOF,upstream_gene_variant,,ENST00000402415,;	2082	94	81	SUCCESS
TTC7A	57217	.	GRCh37	2	47278963	47278963	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	86	0	ENST00000319190.5:c.2096T>A	p.Leu699Gln	p.L699Q	ENST00000319190	NM_020458.2	699	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS33193.1	2096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCTGAAGC	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF342	.	.	ENSP00000316699	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000319190	Transcript	.	.	ENSG00000068724	19750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.34)	.	TTC7A_HUMAN	TTC7A	HGNC	F5H4E1_HUMAN	.	UPI00001BDC89	SNV	TTC7A,missense_variant,p.Leu723Gln,ENST00000394850,;TTC7A,missense_variant,p.Leu345Gln,ENST00000263737,;TTC7A,missense_variant,p.Leu699Gln,ENST00000319190,;TTC7A,missense_variant,p.Leu665Gln,ENST00000409245,;TTC7A,non_coding_transcript_exon_variant,,ENST00000484337,;C2orf61,intron_variant,,ENST00000496939,;TTC7A,downstream_gene_variant,,ENST00000461601,;TTC7A,downstream_gene_variant,,ENST00000496991,;TTC7A,3_prime_UTR_variant,,ENST00000441914,;TTC7A,3_prime_UTR_variant,,ENST00000409825,;TTC7A,non_coding_transcript_exon_variant,,ENST00000484061,;TTC7A,non_coding_transcript_exon_variant,,ENST00000491786,;TTC7A,downstream_gene_variant,,ENST00000440051,;	2464	86	100	SUCCESS
KANSL3	55683	.	GRCh37	2	97274685	97274685	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	101	0	ENST00000431828.1:c.1500A>G	p.Arg500=	p.R500=	ENST00000431828		500	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46361.1	1500	MUTECT|MUSE	.	AAGTCTCTGCG	NONE	.	.	hmmpanther:PTHR13136	.	.	ENSP00000396749	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000431828	Transcript	.	.	ENSG00000114982	25473	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KANL3_HUMAN	KANSL3	HGNC	F8WEN2_HUMAN,B4E1W4_HUMAN	.	UPI0000207C82	SNV	KANSL3,synonymous_variant,p.%3D,ENST00000599854,;KANSL3,synonymous_variant,p.%3D,ENST00000431828,;KANSL3,synonymous_variant,p.%3D,ENST00000440133,;KANSL3,synonymous_variant,p.%3D,ENST00000441706,;KANSL3,downstream_gene_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,downstream_gene_variant,,ENST00000464738,;KANSL3,synonymous_variant,p.%3D,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,downstream_gene_variant,,ENST00000425656,;KANSL3,downstream_gene_variant,,ENST00000488907,;KANSL3,upstream_gene_variant,,ENST00000476534,;KANSL3,downstream_gene_variant,,ENST00000418735,;KANSL3,downstream_gene_variant,,ENST00000452268,;KANSL3,downstream_gene_variant,,ENST00000416138,;KANSL3,downstream_gene_variant,,ENST00000451819,;	1577	101	97	SUCCESS
KANSL3	55683	.	GRCh37	2	97274687	97274687	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	102	0	ENST00000431828.1:c.1498A>G	p.Arg500Gly	p.R500G	ENST00000431828		500	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46361.1	1498	MUTECT|MUSE	.	GTCTCTGCGGG	NONE	.	.	hmmpanther:PTHR13136	.	.	ENSP00000396749	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000431828	Transcript	.	.	ENSG00000114982	25473	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.79)	.	deleterious(0.02)	.	KANL3_HUMAN	KANSL3	HGNC	F8WEN2_HUMAN,B4E1W4_HUMAN	.	UPI0000207C82	SNV	KANSL3,missense_variant,p.Arg413Gly,ENST00000599854,;KANSL3,missense_variant,p.Arg500Gly,ENST00000431828,;KANSL3,missense_variant,p.Arg294Gly,ENST00000440133,;KANSL3,missense_variant,p.Arg413Gly,ENST00000441706,;KANSL3,downstream_gene_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,downstream_gene_variant,,ENST00000464738,;KANSL3,missense_variant,p.Arg500Gly,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,downstream_gene_variant,,ENST00000425656,;KANSL3,downstream_gene_variant,,ENST00000488907,;KANSL3,upstream_gene_variant,,ENST00000476534,;KANSL3,downstream_gene_variant,,ENST00000418735,;KANSL3,downstream_gene_variant,,ENST00000452268,;KANSL3,downstream_gene_variant,,ENST00000416138,;KANSL3,downstream_gene_variant,,ENST00000451819,;	1575	102	96	SUCCESS
INPP4A	3631	.	GRCh37	2	99172251	99172251	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	40	0	ENST00000074304.5:c.1817G>T	p.Cys606Phe	p.C606F	ENST00000074304	NM_001134224.1	606	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS46369.1	1817	MUTECT|MUSE	.	TGCATGCCATC	NONE	.	.	hmmpanther:PTHR12187:SF4,hmmpanther:PTHR12187	.	.	ENSP00000074304	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000074304	Transcript	.	.	ENSG00000040933	6074	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.12)	.	INP4A_HUMAN	INPP4A	HGNC	.	.	UPI000006CD60	SNV	INPP4A,missense_variant,p.Cys606Phe,ENST00000074304,;INPP4A,missense_variant,p.Cys606Phe,ENST00000523221,;INPP4A,missense_variant,p.Cys601Phe,ENST00000409851,;INPP4A,intron_variant,,ENST00000409463,;INPP4A,intron_variant,,ENST00000409016,;INPP4A,intron_variant,,ENST00000409540,;INPP4A,intron_variant,,ENST00000545415,;INPP4A,non_coding_transcript_exon_variant,,ENST00000468638,;	2210	40	38	SUCCESS
CBLB	868	.	GRCh37	3	105404274	105404274	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	90	0	ENST00000264122.4:c.2091A>G	p.Lys697=	p.K697=	ENST00000264122	NM_170662.3	697	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS2948.1	2091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTTTTCTC	NONE	.	.	hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3	.	.	ENSP00000264122	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000264122	Transcript	.	.	ENSG00000114423	1542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLB_HUMAN	CBLB	HGNC	C9JU85_HUMAN,B5MC15_HUMAN	.	UPI00001AE89F	SNV	CBLB,synonymous_variant,p.%3D,ENST00000405772,;CBLB,synonymous_variant,p.%3D,ENST00000394030,;CBLB,synonymous_variant,p.%3D,ENST00000403724,;CBLB,synonymous_variant,p.%3D,ENST00000394027,;CBLB,synonymous_variant,p.%3D,ENST00000264122,;CBLB,upstream_gene_variant,,ENST00000407712,;	2413	90	62	SUCCESS
MORC1	27136	.	GRCh37	3	108819341	108819341	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	85	0	ENST00000232603.5:c.237C>T	p.Asp79=	p.D79=	ENST00000232603	NM_014429.3	79	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS2955.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGTCTGA	NONE	.	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6,Pfam_domain:PF13589,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000232603	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000232603	Transcript	.	.	ENSG00000114487	7198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,synonymous_variant,p.%3D,ENST00000483760,;MORC1,synonymous_variant,p.%3D,ENST00000232603,;MORC1-AS1,upstream_gene_variant,,ENST00000480826,;	320	85	95	SUCCESS
TRH	7200	.	GRCh37	3	129696007	129696007	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149654673	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	36	0	ENST00000302649.3:c.677G>A	p.Arg226Gln	p.R226Q	ENST00000302649	NM_007117.4	226	cGg/cAg	0	A:0.0007	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3066.1	677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGGCAGC	NONE	byCluster	.	hmmpanther:PTHR17530,hmmpanther:PTHR17530:SF2,PIRSF_domain:PIRSF001795	.	A:0.0002	ENSP00000303452	.	3/3	.	.	.	.	.	.	.	.	rs149654673	3/3	PASS	ENST00000302649	Transcript	.	.	ENSG00000170893	12298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.04)	.	TRH_HUMAN	TRH	HGNC	.	.	UPI0000136F2B	SNV	TRH,missense_variant,p.Arg222Gln,ENST00000507066,;TRH,missense_variant,p.Arg226Gln,ENST00000302649,;	1204	36	31	SUCCESS
TP63	8626	.	GRCh37	3	189584586	189584586	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	59	174	0	ENST00000264731.3:c.882G>A		p.X294_splice	ENST00000264731	NM_003722.4	294	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS3293.1	882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGTAAA	NONE	.	.	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000264731	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000264731	Transcript	.	.	ENSG00000073282	15979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P63_HUMAN	TP63	HGNC	.	.	UPI0000073CF2	SNV	TP63,synonymous_variant,p.%3D,ENST00000392461,;TP63,synonymous_variant,p.%3D,ENST00000354600,;TP63,synonymous_variant,p.%3D,ENST00000456148,;TP63,synonymous_variant,p.%3D,ENST00000392460,;TP63,synonymous_variant,p.%3D,ENST00000320472,;TP63,synonymous_variant,p.%3D,ENST00000440651,;TP63,synonymous_variant,p.%3D,ENST00000449992,;TP63,synonymous_variant,p.%3D,ENST00000264731,;TP63,synonymous_variant,p.%3D,ENST00000418709,;TP63,synonymous_variant,p.%3D,ENST00000437221,;TP63,synonymous_variant,p.%3D,ENST00000382063,;TP63,synonymous_variant,p.%3D,ENST00000392463,;TP63,downstream_gene_variant,,ENST00000434928,;TP63,splice_region_variant,,ENST00000460036,;	971	174	164	SUCCESS
SUSD5	26032	.	GRCh37	3	33195306	33195306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	40	46	0	ENST00000309558.3:c.818C>T	p.Pro273Leu	p.P273L	ENST00000309558	NM_015551.1	273	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS46787.1	818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGCAAG	NONE	.	.	hmmpanther:PTHR32493:SF0,hmmpanther:PTHR32493	.	.	ENSP00000308727	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000309558	Transcript	.	.	ENSG00000173705	29061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.14)	.	SUSD5_HUMAN	SUSD5	HGNC	.	.	UPI00001C1DF3	SNV	SUSD5,missense_variant,p.Pro209Leu,ENST00000412539,;SUSD5,missense_variant,p.Pro273Leu,ENST00000309558,;	1236	46	52	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	87	103	1	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	104	104	SUCCESS
GNL3	26354	.	GRCh37	3	52720072	52720072	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs775394035	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	33	60	0	ENST00000418458.1:c.-37G>A		p.*13*	ENST00000418458	NM_014366.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2861.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGCAGGT	NONE	.	.	.	.	.	ENSP00000395772	.	1/15	.	.	.	.	.	.	.	.	rs775394035	1/15	PASS	ENST00000418458	Transcript	.	.	ENSG00000163938	29931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNL3_HUMAN	GNL3	HGNC	C9JZT7_HUMAN,C9JYH9_HUMAN	.	UPI000003C48A	SNV	GNL3,5_prime_UTR_variant,,ENST00000394799,;GNL3,5_prime_UTR_variant,,ENST00000418458,;GNL3,intron_variant,,ENST00000479230,;GNL3,upstream_gene_variant,,ENST00000474423,;PBRM1,upstream_gene_variant,,ENST00000439181,;PBRM1,upstream_gene_variant,,ENST00000450271,;PBRM1,upstream_gene_variant,,ENST00000431678,;PBRM1,upstream_gene_variant,,ENST00000420148,;PBRM1,upstream_gene_variant,,ENST00000394830,;PBRM1,upstream_gene_variant,,ENST00000424867,;PBRM1,upstream_gene_variant,,ENST00000458294,;PBRM1,upstream_gene_variant,,ENST00000449505,;SNORD19B,upstream_gene_variant,,ENST00000516978,;SNORD19B,upstream_gene_variant,,ENST00000459623,;SNORD19,upstream_gene_variant,,ENST00000391191,;GNL3,non_coding_transcript_exon_variant,,ENST00000468146,;GNL3,upstream_gene_variant,,ENST00000460073,;GNL3,5_prime_UTR_variant,,ENST00000492349,;GNL3,non_coding_transcript_exon_variant,,ENST00000496254,;GNL3,non_coding_transcript_exon_variant,,ENST00000462550,;GNL3,non_coding_transcript_exon_variant,,ENST00000468885,;GNL3,upstream_gene_variant,,ENST00000484022,;	137	60	44	SUCCESS
TMEM110	0	.	GRCh37	3	52877737	52877737	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs887132671	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	35	48	0	ENST00000355083.5:c.618C>T		p.X206_splice	ENST00000355083	NM_198563.2	206	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS2866.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGTTGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31735,hmmpanther:PTHR31735:SF2,Pfam_domain:PF12400	.	.	ENSP00000347195	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000355083	Transcript	.	.	ENSG00000213533	30526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM110_HUMAN	TMEM110	HGNC	.	.	UPI000000DB9A	SNV	TMEM110,synonymous_variant,p.%3D,ENST00000355083,;TMEM110-MUSTN1,synonymous_variant,p.%3D,ENST00000504329,;TMEM110,downstream_gene_variant,,ENST00000485356,;TMEM110,upstream_gene_variant,,ENST00000482155,;TMEM110-MUSTN1,upstream_gene_variant,,ENST00000514466,;TMEM110,upstream_gene_variant,,ENST00000464769,;TMEM110,upstream_gene_variant,,ENST00000477591,;TMEM110-MUSTN1,upstream_gene_variant,,ENST00000495552,;	764	48	43	SUCCESS
TRAM1L1	133022	.	GRCh37	4	118005493	118005493	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	89	0	ENST00000310754.4:c.1057G>T	p.Glu353Ter	p.E353*	ENST00000310754	NM_152402.2	353	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3707.1	1057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCCACTC	NONE	.	.	hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,PIRSF_domain:PIRSF005449	.	.	ENSP00000309402	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310754	Transcript	.	.	ENSG00000174599	28371	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR1L1_HUMAN	TRAM1L1	HGNC	.	.	UPI000013F075	SNV	TRAM1L1,stop_gained,p.Glu353Ter,ENST00000310754,;	1244	89	77	SUCCESS
PCDH18	54510	.	GRCh37	4	138451631	138451631	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	73	0	ENST00000344876.4:c.1612G>T	p.Val538Leu	p.V538L	ENST00000344876	NM_019035.3	538	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS34064.1	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACTTCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	tolerated(0.46)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Val538Leu,ENST00000344876,;PCDH18,missense_variant,p.Val318Leu,ENST00000507846,;PCDH18,missense_variant,p.Val538Leu,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	1999	73	73	SUCCESS
KIAA1430	0	.	GRCh37	4	186111951	186111951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	39	76	0	ENST00000458385.2:c.400G>T	p.Asp134Tyr	p.D134Y	ENST00000458385	NM_020827.1	134	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS47168.1	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCTGTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23035,hmmpanther:PTHR23035:SF1	.	.	ENSP00000409964	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000458385	Transcript	.	.	ENSG00000164323	29276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	K1430_HUMAN	KIAA1430	HGNC	D6RDU8_HUMAN	.	UPI00001971F9	SNV	KIAA1430,missense_variant,p.Asp134Tyr,ENST00000514798,;KIAA1430,missense_variant,p.Asp134Tyr,ENST00000503223,;KIAA1430,missense_variant,p.Asp134Tyr,ENST00000458385,;KIAA1430,missense_variant,p.Asp134Tyr,ENST00000296775,;	520	76	82	SUCCESS
BMP2K	55589	.	GRCh37	4	79832987	79832987	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	220	7	214	0	ENST00000335016.5:c.3286A>G	p.Asn1096Asp	p.N1096D	ENST00000335016	NM_198892.1	1096	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS47083.1	3286	MUTECT|MUSE	.	ATCACAATACT	NONE	.	.	hmmpanther:PTHR22967:SF10,hmmpanther:PTHR22967,Pfam_domain:PF15282	.	.	ENSP00000334836	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000335016	Transcript	.	.	ENSG00000138756	18041	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	.	BMP2K_HUMAN	BMP2K	HGNC	.	.	UPI00001BDC7C	SNV	BMP2K,missense_variant,p.Asn1096Asp,ENST00000335016,;BMP2K,missense_variant,p.Asn789Asp,ENST00000502613,;PAQR3,intron_variant,,ENST00000295462,;PAQR3,downstream_gene_variant,,ENST00000512733,;PAQR3,downstream_gene_variant,,ENST00000515541,;PAQR3,downstream_gene_variant,,ENST00000503343,;PAQR3,3_prime_UTR_variant,,ENST00000511594,;PAQR3,intron_variant,,ENST00000512760,;PAQR3,intron_variant,,ENST00000342820,;	3452	214	228	SUCCESS
DHX29	54505	.	GRCh37	5	54581616	54581616	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	43	132	0	ENST00000251636.5:c.1140A>G	p.Lys380=	p.K380=	ENST00000251636	NM_019030.2	380	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS34158.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTTTGGG	NONE	.	.	hmmpanther:PTHR18934:SF82,hmmpanther:PTHR18934	.	.	ENSP00000251636	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000251636	Transcript	.	.	ENSG00000067248	15815	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX29_HUMAN	DHX29	HGNC	.	.	UPI00001AE72C	SNV	DHX29,synonymous_variant,p.%3D,ENST00000251636,;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	1289	132	125	SUCCESS
CENPH	64946	.	GRCh37	5	68492921	68492921	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	236	93	247	0	ENST00000283006.2:c.357del	p.Ser120AlafsTer11	p.S120Afs*11	ENST00000283006	NM_022909.3	119	aTt/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS3998.1	356	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAAATTAGCA	NONE	.	.	.	.	.	ENSP00000283006	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000283006	Transcript	.	.	ENSG00000153044	17268	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CENPH_HUMAN	CENPH	HGNC	.	.	UPI000006F610	deletion	CENPH,frameshift_variant,p.Ser120AlafsTer11,ENST00000283006,;CENPH,frameshift_variant,p.Ser60AlafsTer11,ENST00000502689,;CENPH,intron_variant,,ENST00000515001,;CENPH,3_prime_UTR_variant,,ENST00000513575,;CENPH,non_coding_transcript_exon_variant,,ENST00000514753,;	443	247	329	SUCCESS
IQGAP2	10788	.	GRCh37	5	75886316	75886316	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	48	123	0	ENST00000274364.6:c.724G>A	p.Ala242Thr	p.A242T	ENST00000274364	NM_006633.2	242	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34188.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGCGGTT	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12	.	.	ENSP00000274364	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000274364	Transcript	.	.	ENSG00000145703	6111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	IQGA2_HUMAN	IQGAP2	HGNC	E7EWC2_HUMAN,D6R939_HUMAN	.	UPI000020CB2C	SNV	IQGAP2,missense_variant,p.Ala215Thr,ENST00000514350,;IQGAP2,missense_variant,p.Ala192Thr,ENST00000505766,;IQGAP2,missense_variant,p.Ala242Thr,ENST00000274364,;IQGAP2,5_prime_UTR_variant,,ENST00000379730,;	1021	123	123	SUCCESS
UNC5CL	222643	.	GRCh37	6	40998166	40998166	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs533058060	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	20	77	0	ENST00000244565.3:c.1295G>A	p.Arg432Lys	p.R432K	ENST00000244565	NM_173561.2	432	aGa/aAa	0	.	A:0	.	A:0	.	T	R/K	protein_coding	YES	CCDS4847.1	1295	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCTGCGC	NONE	by1000G	.	PROSITE_profiles:PS50017,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF39,Gene3D:1.10.533.10,Pfam_domain:PF00531,SMART_domains:SM00005,Superfamily_domains:SSF47986	A:0	.	ENSP00000244565	A:0	8/9	.	.	.	.	.	.	.	.	rs533058060	8/9	PASS	ENST00000244565	Transcript	.	A:0.0002	ENSG00000124602	21203	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.057)	A:0.001	tolerated(0.41)	.	UN5CL_HUMAN	UNC5CL	HGNC	H8YHX0_HUMAN	.	UPI00001609DB	SNV	UNC5CL,missense_variant,p.Arg432Lys,ENST00000373164,;UNC5CL,missense_variant,p.Arg432Lys,ENST00000244565,;UNC5CL,non_coding_transcript_exon_variant,,ENST00000470102,;OARD1,downstream_gene_variant,,ENST00000482853,;	1384	77	179	SUCCESS
GCLC	2729	.	GRCh37	6	53364926	53364926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	46	87	0	ENST00000229416.6:c.1619C>A	p.Ser540Tyr	p.S540Y	ENST00000229416	NM_001197115.1	540	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS4952.1	1619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAAGAGTTC	NONE	.	.	hmmpanther:PTHR11164,hmmpanther:PTHR11164:SF0,Pfam_domain:PF03074,Superfamily_domains:SSF55931	.	.	ENSP00000229416	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000229416	Transcript	.	.	ENSG00000001084	4311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	deleterious(0)	.	GSH1_HUMAN	GCLC	HGNC	Q14TF0_HUMAN,D6R959_HUMAN,B4E2I4_HUMAN	.	UPI000000D970	SNV	GCLC,missense_variant,p.Ser540Tyr,ENST00000229416,;RP1-27K12.4,upstream_gene_variant,,ENST00000508884,;GCLC,non_coding_transcript_exon_variant,,ENST00000515580,;GCLC,non_coding_transcript_exon_variant,,ENST00000510837,;GCLC,non_coding_transcript_exon_variant,,ENST00000509541,;GCLC,downstream_gene_variant,,ENST00000504353,;	2103	87	201	SUCCESS
DST	667	.	GRCh37	6	56481993	56481993	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	48	0	ENST00000244364.6:c.3319-2711G>A		p.*1107*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47443.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGCCCTTGG	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	22/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Gly2091Glu,ENST00000370765,;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000522360,;	.	48	112	SUCCESS
NRN1	51299	.	GRCh37	6	6007170	6007170	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	8	0	ENST00000244766.2:c.-188C>T		p.*63*	ENST00000244766	NM_016588.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4495.1	.	MUTECT|MUSE	.	AGAGAGAAAGA	NONE	.	.	.	.	.	ENSP00000244766	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000244766	Transcript	.	.	ENSG00000124785	17972	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRN1_HUMAN	NRN1	HGNC	.	.	UPI000000D9BF	SNV	NRN1,5_prime_UTR_variant,,ENST00000244766,;NRN1,upstream_gene_variant,,ENST00000495850,;	31	9	13	SUCCESS
ASZ1	136991	.	GRCh37	7	117003700	117003700	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766532245	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	77	0	ENST00000284629.2:c.1378G>A	p.Gly460Arg	p.G460R	ENST00000284629	NM_130768.2	460	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5772.1	1378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCGCATA	NONE	byFrequency	.	hmmpanther:PTHR24157	.	.	ENSP00000284629	.	13/13	.	.	.	.	.	.	.	.	rs766532245	13/13	PASS	ENST00000284629	Transcript	.	.	ENSG00000154438	1350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ASZ1_HUMAN	ASZ1	HGNC	C9JP59_HUMAN,B7ZM20_HUMAN	.	UPI0000070EE2	SNV	ASZ1,missense_variant,p.Gly460Arg,ENST00000284629,;ASZ1,3_prime_UTR_variant,,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;	1441	77	84	SUCCESS
STRIP2	57464	.	GRCh37	7	129102863	129102863	+	synonymous_variant	Silent	SNP	C	C	T	rs746244003	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	61	0	ENST00000249344.2:c.1533C>T	p.Tyr511=	p.Y511=	ENST00000249344	NM_020704.2	511	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS34752.1	1533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTACAGCCT	NONE	.	.	hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6,Pfam_domain:PF11882	.	.	ENSP00000249344	.	14/21	.	.	.	.	.	.	.	.	rs746244003	14/21	PASS	ENST00000249344	Transcript	.	.	ENSG00000128578	22209	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STRP2_HUMAN	STRIP2	HGNC	A4D1K4_HUMAN	.	UPI00001C1E68	SNV	STRIP2,synonymous_variant,p.%3D,ENST00000435494,;STRIP2,synonymous_variant,p.%3D,ENST00000249344,;STRIP2,downstream_gene_variant,,ENST00000465033,;	1573	61	60	SUCCESS
MKLN1	4289	.	GRCh37	7	131122635	131122635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	104	0	ENST00000352689.6:c.1052T>C	p.Val351Ala	p.V351A	ENST00000352689	NM_013255.4	351	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS34754.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTGAGGA	NONE	.	.	hmmpanther:PTHR15526:SF5,hmmpanther:PTHR15526,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000323527	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000352689	Transcript	.	.	ENSG00000128585	7109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.48)	.	MKLN1_HUMAN	MKLN1	HGNC	F8WEY7_HUMAN,C9JXB0_HUMAN,C9JWX9_HUMAN,C9JVL5_HUMAN,C9J7E8_HUMAN	.	UPI0000034CB0	SNV	MKLN1,missense_variant,p.Val351Ala,ENST00000352689,;MKLN1,missense_variant,p.Val259Ala,ENST00000421797,;MKLN1,3_prime_UTR_variant,,ENST00000458153,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494785,;	1092	104	138	SUCCESS
PCLO	27445	.	GRCh37	7	82585150	82585157	+	frameshift_variant	Frame_Shift_Del	DEL	AGTCTGTC	AGTCTGTC	-	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	AGTCTGTC	AGTCTGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	101	18	97	0	ENST00000333891.9:c.5112_5119del	p.Asp1706Ter	p.D1706*	ENST00000333891	NM_033026.5	1704	ctGACAGACTca/ctca	0	.	.	.	.	.	-	LTDS/LX	protein_coding	YES	CCDS47630.1	5112-5119	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGTGAGTCTGTCAGGCT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	deletion	PCLO,frameshift_variant,p.Asp1706Ter,ENST00000333891,;PCLO,frameshift_variant,p.Asp1706Ter,ENST00000423517,;	5450-5457	97	119	SUCCESS
HSF1	3297	.	GRCh37	8	145533250	145533250	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	230	161	0	ENST00000528838.1:c.336T>A	p.Leu112=	p.L112=	ENST00000528838	NM_005526.2	112	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6419.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGAGAA	NONE	.	.	hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF142,Pfam_domain:PF00447,Gene3D:1.10.10.10,SMART_domains:SM00415,Superfamily_domains:SSF46785	.	.	ENSP00000431512	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000528838	Transcript	.	.	ENSG00000185122	5224	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSF1_HUMAN	HSF1	HGNC	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN	.	UPI0000000DE5	SNV	HSF1,synonymous_variant,p.%3D,ENST00000400780,;HSF1,synonymous_variant,p.%3D,ENST00000528838,;HSF1,synonymous_variant,p.%3D,ENST00000533240,;HSF1,non_coding_transcript_exon_variant,,ENST00000528199,;HSF1,non_coding_transcript_exon_variant,,ENST00000534314,;HSF1,non_coding_transcript_exon_variant,,ENST00000529630,;HSF1,non_coding_transcript_exon_variant,,ENST00000528988,;HSF1,upstream_gene_variant,,ENST00000530661,;HSF1,upstream_gene_variant,,ENST00000533130,;HSF1,upstream_gene_variant,,ENST00000531447,;HSF1,upstream_gene_variant,,ENST00000528842,;HSF1,non_coding_transcript_exon_variant,,ENST00000532338,;HSF1,upstream_gene_variant,,ENST00000527328,;	496	161	328	SUCCESS
CPA6	57094	.	GRCh37	8	68395960	68395960	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	126	75	0	ENST00000297770.4:c.838+43C>T		p.*280*	ENST00000297770	NM_020361.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGCAGAA	NONE	.	.	.	.	.	ENSP00000297770	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODIFIER	8/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,missense_variant,p.Ala294Val,ENST00000518549,;CPA6,intron_variant,,ENST00000297769,;CPA6,intron_variant,,ENST00000297770,;CPA6,intron_variant,,ENST00000479862,;	.	75	159	SUCCESS
RUNX1T1	862	.	GRCh37	8	92982954	92982954	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756883632	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	62	0	ENST00000265814.3:c.1471G>A	p.Ala491Thr	p.A491T	ENST00000265814	NM_001198628.1	491	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS56544.1	1504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCGACCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	10/11	.	.	.	.	.	.	.	.	rs756883632,COSM198448,COSM198449,COSM751454	10/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.195)	.	tolerated(0.1)	0,1,1,1	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Ala502Thr,ENST00000436581,;RUNX1T1,missense_variant,p.Ala491Thr,ENST00000265814,;RUNX1T1,missense_variant,p.Ala464Thr,ENST00000518844,;RUNX1T1,missense_variant,p.Ala491Thr,ENST00000523629,;RUNX1T1,missense_variant,p.Ala454Thr,ENST00000360348,;RUNX1T1,missense_variant,p.Ala454Thr,ENST00000520724,;RUNX1T1,missense_variant,p.Ala464Thr,ENST00000396218,;RUNX1T1,missense_variant,p.Ala454Thr,ENST00000422361,;RUNX1T1,3_prime_UTR_variant,,ENST00000521751,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000521078,;RUNX1T1,downstream_gene_variant,,ENST00000520978,;	1515	62	115	SUCCESS
INTS8	55656	.	GRCh37	8	95835553	95835553	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs779413330	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	24	0	ENST00000523731.1:c.-107G>C		p.*36*	ENST00000523731	NM_017864.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34925.1	.	MUTECT|MUSE	.	CGGAGGGTGGC	NONE	.	.	.	.	.	ENSP00000430338	.	1/27	.	.	.	.	.	.	.	.	rs779413330	1/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,5_prime_UTR_variant,,ENST00000519457,;INTS8,5_prime_UTR_variant,,ENST00000519053,;INTS8,5_prime_UTR_variant,,ENST00000447247,;INTS8,5_prime_UTR_variant,,ENST00000523731,;INTS8,intron_variant,,ENST00000523808,;INTS8,intron_variant,,ENST00000522171,;INTS8,intron_variant,,ENST00000521860,;INTS8,5_prime_UTR_variant,,ENST00000524333,;INTS8,non_coding_transcript_exon_variant,,ENST00000523321,;INTS8,upstream_gene_variant,,ENST00000343161,;INTS8,upstream_gene_variant,,ENST00000523206,;	27	24	61	SUCCESS
CCDC180	100499483	.	GRCh37	9	100105806	100105806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	54	0	ENST00000375202.2:c.2591T>C	p.Val864Ala	p.V864A	ENST00000375202		864	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS35077.2	2591	RADIA|MUTECT|MUSE	.	ACAAGTGACAA	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	33/51	.	.	.	.	.	.	.	.	.	33/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.294)	.	tolerated(0.16)	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,missense_variant,p.Val1003Ala,ENST00000357054,;CCDC180,missense_variant,p.Val864Ala,ENST00000375202,;CCDC180,missense_variant,p.Val864Ala,ENST00000529487,;CCDC180,missense_variant,p.Val861Ala,ENST00000411667,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;CCDC180,non_coding_transcript_exon_variant,,ENST00000528678,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;CCDC180,intron_variant,,ENST00000530011,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;	3943	54	52	SUCCESS
ACTL7B	10880	.	GRCh37	9	111617761	111617761	+	synonymous_variant	Silent	SNP	G	G	A	rs776123743	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	60	0	ENST00000374667.3:c.450C>T	p.Ser150=	p.S150=	ENST00000374667	NM_006686.3	150	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6771.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGGAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11937:SF59,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000363799	.	1/1	.	.	.	.	.	.	.	.	rs776123743,COSM3902847	1/1	PASS	ENST00000374667	Transcript	.	.	ENSG00000148156	162	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ACL7B_HUMAN	ACTL7B	HGNC	.	.	UPI0000125053	SNV	ACTL7B,synonymous_variant,p.%3D,ENST00000374667,;	1479	60	48	SUCCESS
GPSM1	26086	.	GRCh37	9	139234263	139234263	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	60	0	ENST00000440944.1:c.1074C>T	p.Ile358=	p.I358=	ENST00000440944	NM_001145638.2	358	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS48055.1	1074	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCTCCCA	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000392828	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,synonymous_variant,p.%3D,ENST00000440944,;GPSM1,synonymous_variant,p.%3D,ENST00000354753,;GPSM1,synonymous_variant,p.%3D,ENST00000392945,;	1294	60	51	SUCCESS
ABCA2	20	.	GRCh37	9	139902954	139902954	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	56	0	ENST00000341511.6:c.7189C>A	p.Pro2397Thr	p.P2397T	ENST00000341511	NM_212533.2	2397	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS43909.1	7189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGGGGCAG	NONE	.	.	.	.	.	ENSP00000344155	.	48/49	.	.	.	.	.	.	.	.	.	48/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,missense_variant,p.Pro156Thr,ENST00000490486,;ABCA2,missense_variant,p.Pro2396Thr,ENST00000371605,;ABCA2,missense_variant,p.Pro2397Thr,ENST00000341511,;ABCA2,missense_variant,p.Pro146Thr,ENST00000448336,;ABCA2,missense_variant,p.Pro2397Thr,ENST00000265662,;ABCA2,non_coding_transcript_exon_variant,,ENST00000464157,;ABCA2,downstream_gene_variant,,ENST00000437791,;ABCA2,downstream_gene_variant,,ENST00000463603,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;	7239	56	59	SUCCESS
FUT7	2529	.	GRCh37	9	139925353	139925353	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs547445437	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	42	0	ENST00000314412.6:c.838G>A	p.Ala280Thr	p.A280T	ENST00000314412	NM_004479.3	280	Gcc/Acc	0	.	A:0	.	A:0	.	T	A/T	protein_coding	YES	CCDS7022.1	838	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGCTGAGC	NONE	by1000G	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF12,Pfam_domain:PF00852,Superfamily_domains:SSF53756	A:0	.	ENSP00000318142	A:0	2/2	.	.	.	.	.	.	.	.	rs547445437	2/2	PASS	ENST00000314412	Transcript	.	A:0.0002	ENSG00000180549	4018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	A:0.001	tolerated(0.37)	.	FUT7_HUMAN	FUT7	HGNC	.	.	UPI000012ADAF	SNV	FUT7,missense_variant,p.Ala280Thr,ENST00000314412,;C9orf139,intron_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	1857	42	62	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971190	21971190	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771138120	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	38	0	ENST00000304494.5:c.168C>A	p.Ser56Arg	p.S56R	ENST00000304494	NM_000077.4	56	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS56565.1	168	MUTECT|MUSE	.	CGGGCGCTGCC	CODON|p.0?|c.1_471del471|15,CODON|p.M53_R58del|c.157_174del18|3,CODON|p.A57V|c.170C>T|5,CODON|p.A57P|c.169G>C|4,BUFFER|p.R58*|c.171_172CC>TT|6,BUFFER|p.P113L|c.338C>T|14,BUFFER|p.R58*|c.172C>T|10,BUFFER|p.R58*|c.172C>T|90,BUFFER|p.R58*|c.172C>T|15	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	2/4	.	.	.	.	.	.	.	.	rs771138120,COSM13467	2/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.99)	.	deleterious(0)	0,1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,missense_variant,p.Ser5Arg,ENST00000578845,;CDKN2A,missense_variant,p.Arg71Ser,ENST00000579755,;CDKN2A,missense_variant,p.Ser5Arg,ENST00000494262,;CDKN2A,missense_variant,p.Ser5Arg,ENST00000498628,;CDKN2A,missense_variant,p.Arg71Ser,ENST00000530628,;CDKN2A,missense_variant,p.Ser56Arg,ENST00000446177,;CDKN2A,missense_variant,p.Ser56Arg,ENST00000304494,;CDKN2A,missense_variant,p.Arg112Ser,ENST00000361570,;CDKN2A,missense_variant,p.Ser56Arg,ENST00000498124,;CDKN2A,missense_variant,p.Ser5Arg,ENST00000479692,;CDKN2A,missense_variant,p.Ser56Arg,ENST00000579122,;CDKN2A,missense_variant,p.Ser5Arg,ENST00000497750,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	207	38	36	SUCCESS
RPL39	6170	.	GRCh37	X	118925554	118925554	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	190	242	1	ENST00000361575.3:c.-15A>G		p.*5*	ENST00000361575	NM_001000.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14586.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGTCAAGA	NONE	.	.	.	.	.	ENSP00000355315	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000361575	Transcript	.	.	ENSG00000198918	10350	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL39_HUMAN	RPL39	HGNC	D6W5G5_HUMAN	.	UPI0000000BEB	SNV	RPL39,5_prime_UTR_variant,,ENST00000361575,;SNORA69,upstream_gene_variant,,ENST00000383895,;RPL39,non_coding_transcript_exon_variant,,ENST00000468844,;RPL39,upstream_gene_variant,,ENST00000477403,;	53	243	231	SUCCESS
MAGEC3	139081	.	GRCh37	X	140926121	140926121	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1290329356	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	69	83	0	ENST00000298296.1:c.20G>C	p.Trp7Ser	p.W7S	ENST00000298296	NM_138702.1	7	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS14676.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGGGTGT	NONE	.	.	.	.	.	ENSP00000298296	.	1/8	.	.	.	.	.	.	.	.	COSM4107149	1/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.403)	.	deleterious_low_confidence(0)	1	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,missense_variant,p.Trp7Ser,ENST00000298296,;	20	83	78	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20222202	20222203	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	103	0	ENST00000379565.3:c.262dup	p.Ile88AsnfsTer5	p.I88Nfs*5	ENST00000379565	NM_004586.2	88	atc/aAtc	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS14197.1	262-263	INDELOCATOR|VARSCANI	.	CTGAGATTTTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	insertion	RPS6KA3,frameshift_variant,p.Ile88AsnfsTer5,ENST00000379565,;RPS6KA3,frameshift_variant,p.Ile60AsnfsTer5,ENST00000438357,;RPS6KA3,frameshift_variant,p.Ile60AsnfsTer5,ENST00000540702,;RPS6KA3,frameshift_variant,p.Ile60AsnfsTer5,ENST00000544447,;RPS6KA3,frameshift_variant,p.Ile59AsnfsTer5,ENST00000379548,;RPS6KA3,frameshift_variant,p.Ile59AsnfsTer5,ENST00000457145,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000474266,;	470-471	103	102	SUCCESS
DMD	1756	.	GRCh37	X	32235165	32235165	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	167	164	0	ENST00000357033.4:c.6306T>A	p.Ser2102=	p.S2102=	ENST00000357033	NM_004007.2	2102	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14233.1	6306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACAGATCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	44/79	.	.	.	.	.	.	.	.	.	44/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,synonymous_variant,p.%3D,ENST00000357033,;DMD,synonymous_variant,p.%3D,ENST00000378677,;DMD,non_coding_transcript_exon_variant,,ENST00000488902,;	6513	164	192	SUCCESS
NLGN4Y	22829	.	GRCh37	Y	16942170	16942170	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	112	145	0	ENST00000339174.5:c.1372G>T	p.Asp458Tyr	p.D458Y	ENST00000339174		458	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS14788.1	1372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGACCTG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF195,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000348169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000355905	Transcript	.	.	ENSG00000165246	15529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	NLGNY_HUMAN	NLGN4Y	HGNC	.	.	UPI000004770C	SNV	NLGN4Y,missense_variant,p.Asp458Tyr,ENST00000339174,;NLGN4Y,missense_variant,p.Asp458Tyr,ENST00000355905,;NLGN4Y,missense_variant,p.Asp515Tyr,ENST00000382868,;NLGN4Y,missense_variant,p.Asp290Tyr,ENST00000382872,;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	1624	145	137	SUCCESS
EIF3A	8661	.	GRCh37	10	120801729	120801729	+	synonymous_variant	Silent	SNP	T	T	A	rs901998364	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	21	143	1	ENST00000369144.3:c.3303A>T	p.Arg1101=	p.R1101=	ENST00000369144	NM_003750.2	1101	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS7608.1	3303	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14005:SF0,hmmpanther:PTHR14005	.	.	ENSP00000358140	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000369144	Transcript	.	.	ENSG00000107581	3271	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EIF3A_HUMAN	EIF3A	HGNC	F5H335_HUMAN	.	UPI000012D311	SNV	EIF3A,synonymous_variant,p.%3D,ENST00000541549,;EIF3A,synonymous_variant,p.%3D,ENST00000369144,;	3431	144	131	SUCCESS
SFXN4	119559	.	GRCh37	10	120914639	120914639	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	14	217	0	ENST00000355697.2:c.667A>T	p.Lys223Ter	p.K223*	ENST00000355697	NM_213649.1	223	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS7610.1	667	MUTECT|MUSE	.	CCCCTTAATGG	NONE	.	.	Pfam_domain:PF03820,hmmpanther:PTHR11153:SF3,hmmpanther:PTHR11153	.	.	ENSP00000347924	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000355697	Transcript	1	.	ENSG00000183605	16088	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFXN4_HUMAN	SFXN4	HGNC	B1AMV8_HUMAN,B1AMV7_HUMAN	.	UPI000004D333	SNV	SFXN4,stop_gained,p.Lys223Ter,ENST00000355697,;SFXN4,stop_gained,p.Lys214Ter,ENST00000330036,;SFXN4,stop_gained,p.Lys107Ter,ENST00000369131,;SFXN4,downstream_gene_variant,,ENST00000419372,;SFXN4,non_coding_transcript_exon_variant,,ENST00000461438,;SFXN4,non_coding_transcript_exon_variant,,ENST00000466218,;SFXN4,downstream_gene_variant,,ENST00000462913,;SFXN4,upstream_gene_variant,,ENST00000484960,;SFXN4,non_coding_transcript_exon_variant,,ENST00000490417,;	687	217	183	SUCCESS
FANK1	92565	.	GRCh37	10	127677989	127677989	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	28	146	0	ENST00000368693.1:c.316+745T>A		p.*106*	ENST00000368693				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31309.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTTTTATT	NONE	.	.	.	.	.	ENSP00000357682	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368693	Transcript	.	.	ENSG00000203780	23527	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANK1_HUMAN	FANK1	HGNC	C9JD80_HUMAN,A6NH44_HUMAN	.	UPI000046FFD6	SNV	FANK1,3_prime_UTR_variant,,ENST00000449042,;FANK1,intron_variant,,ENST00000445510,;FANK1,intron_variant,,ENST00000417114,;FANK1,intron_variant,,ENST00000368693,;FANK1,intron_variant,,ENST00000368691,;FANK1,intron_variant,,ENST00000368695,;FANK1,intron_variant,,ENST00000368689,;FANK1,intron_variant,,ENST00000492670,;	.	146	133	SUCCESS
ADARB2-AS1	642394	.	GRCh37	10	1569047	1569047	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	85	0	ENST00000421697.2:n.216A>T		p.*72*	ENST00000421697				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7058.1	.	MUTECT|MUSE	.	GGCACAGGCAG	NONE	.	.	.	.	.	ENSP00000370713	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,intron_variant,,ENST00000381312,;ADARB2-AS1,non_coding_transcript_exon_variant,,ENST00000381301,;ADARB2-AS1,non_coding_transcript_exon_variant,,ENST00000421697,;	.	85	93	SUCCESS
CUBN	8029	.	GRCh37	10	17087018	17087018	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	10	145	1	ENST00000377833.4:c.3660A>T	p.Leu1220Phe	p.L1220F	ENST00000377833	NM_001081.3	1220	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7113.1	3660	MUTECT|MUSE	.	TAATCTAAAGT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	25/67	.	.	.	.	.	.	.	.	.	25/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.64)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Leu1220Phe,ENST00000377833,;	3726	146	171	SUCCESS
MYO3A	53904	.	GRCh37	10	26462749	26462749	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	95	0	ENST00000265944.5:c.3556T>A	p.Tyr1186Asn	p.Y1186N	ENST00000265944	NM_017433.4	1186	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS7148.1	3556	MUTECT|MUSE	.	GAGTGTATCAG	BUFFER|p.M1192fs*1|c.3567delA|4	.	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.197)	.	tolerated(0.15)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Tyr1186Asn,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000477691,;	3722	95	107	SUCCESS
GAD2	2572	.	GRCh37	10	26581901	26581901	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377565192	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	50	103	0	ENST00000259271.3:c.1565G>A	p.Arg522Lys	p.R522K	ENST00000259271	NM_000818.2	522	aGa/aAa	0	A:0	.	.	.	.	A	R/K	protein_coding	YES	CCDS7149.1	1565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAGAATGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11999:SF77,hmmpanther:PTHR11999,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	.	A:0.0001	ENSP00000365437	.	15/16	.	.	.	.	.	.	.	.	rs377565192	15/16	PASS	ENST00000376261	Transcript	.	.	ENSG00000136750	4093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.68)	.	DCE2_HUMAN	GAD2	HGNC	Q9UGI5_HUMAN,Q5VZ30_HUMAN	.	UPI0000033835	SNV	GAD2,missense_variant,p.Arg522Lys,ENST00000259271,;GAD2,missense_variant,p.Arg522Lys,ENST00000376261,;	2068	103	95	SUCCESS
PDSS1	23590	.	GRCh37	10	27024491	27024491	+	synonymous_variant	Silent	SNP	C	C	T	rs541206852	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	75	178	0	ENST00000376215.5:c.1009C>T	p.Leu337=	p.L337=	ENST00000376215	NM_014317.3	337	Ctg/Ttg	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS31168.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCTGTTT	NONE	by1000G	.	hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF47,Pfam_domain:PF00348,Gene3D:1.10.600.10,Superfamily_domains:SSF48576	T:0	.	ENSP00000365388	T:0	10/12	.	.	.	.	.	.	.	.	rs541206852	10/12	PASS	ENST00000376215	Transcript	1	T:0.0002	ENSG00000148459	17759	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	DPS1_HUMAN	PDSS1	HGNC	.	.	UPI000013DB22	SNV	PDSS1,synonymous_variant,p.%3D,ENST00000376215,;PDSS1,intron_variant,,ENST00000376203,;PDSS1,non_coding_transcript_exon_variant,,ENST00000470978,;PDSS1,synonymous_variant,p.%3D,ENST00000491711,;	1062	178	296	SUCCESS
PFKP	5214	.	GRCh37	10	3161001	3161001	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	53	170	1	ENST00000381125.4:c.1470G>A	p.Glu490=	p.E490=	ENST00000381125	NM_002627.4	490	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7059.1	1470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGATCGC	NONE	.	.	Superfamily_domains:SSF53784,PIRSF_domain:PIRSF000533,TIGRFAM_domain:TIGR02478,Pfam_domain:PF00365,Gene3D:3.40.50.450,hmmpanther:PTHR13697:SF5,hmmpanther:PTHR13697	.	.	ENSP00000370517	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000381125	Transcript	.	.	ENSG00000067057	8878	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K6PP_HUMAN	PFKP	HGNC	Q5VSR6_HUMAN,Q5VSR5_HUMAN,B1APP8_HUMAN,B1APP6_HUMAN	.	UPI00000012D2	SNV	PFKP,synonymous_variant,p.%3D,ENST00000413079,;PFKP,synonymous_variant,p.%3D,ENST00000381125,;PFKP,synonymous_variant,p.%3D,ENST00000381075,;	1546	171	250	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37414870	37414870	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1391060906	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	12	157	0	ENST00000361713.1:c.-14G>A		p.*5*	ENST00000361713	NM_052997.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7193.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCGGAAGC	NONE	.	.	.	.	.	ENSP00000354432	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,5_prime_UTR_variant,,ENST00000374660,;ANKRD30A,5_prime_UTR_variant,,ENST00000361713,;ANKRD30A,5_prime_UTR_variant,,ENST00000602533,;	86	157	120	SUCCESS
DNA2	1763	.	GRCh37	10	70231585	70231585	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	46	204	1	ENST00000358410.3:c.37A>T	p.Lys13Ter	p.K13*	ENST00000358410	NM_001080449.2	13	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	.	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTCTCCA	NONE	.	.	hmmpanther:PTHR10887:SF339,hmmpanther:PTHR10887	.	.	ENSP00000382133	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000399180	Transcript	1	.	ENSG00000138346	2939	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,stop_gained,p.Lys13Ter,ENST00000358410,;DNA2,stop_gained,p.Lys13Ter,ENST00000399179,;DNA2,stop_gained,p.Lys99Ter,ENST00000399180,;DNA2,stop_gained,p.Lys13Ter,ENST00000551118,;DNA2,stop_gained,p.Lys13Ter,ENST00000550357,;	295	205	154	SUCCESS
OIT3	170392	.	GRCh37	10	74660156	74660156	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	104	0	ENST00000334011.5:c.458A>T	p.Glu153Val	p.E153V	ENST00000334011	NM_152635.1	153	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7318.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACGAGGACT	NONE	.	.	hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF131,SMART_domains:SM00181	.	.	ENSP00000333900	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000334011	Transcript	.	.	ENSG00000138315	29953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.17)	.	OIT3_HUMAN	OIT3	HGNC	.	.	UPI00000389F9	SNV	OIT3,missense_variant,p.Glu153Val,ENST00000334011,;	676	104	106	SUCCESS
ANXA7	310	.	GRCh37	10	75147463	75147463	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	25	194	0	ENST00000372919.4:c.683A>T	p.Lys228Met	p.K228M	ENST00000372919	NM_004034.2	228	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS7326.1	683	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCTTAAAT	NONE	.	.	hmmpanther:PTHR10502:SF31,hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874	.	.	ENSP00000362010	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000372919	Transcript	.	.	ENSG00000138279	545	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ANXA7_HUMAN	ANXA7	HGNC	B9ZVT2_HUMAN	.	UPI000013DB45	SNV	ANXA7,missense_variant,p.Lys228Met,ENST00000372919,;ANXA7,missense_variant,p.Lys76Met,ENST00000535178,;ANXA7,missense_variant,p.Lys206Met,ENST00000372921,;RP11-537A6.9,downstream_gene_variant,,ENST00000427492,;ANXA7,non_coding_transcript_exon_variant,,ENST00000492380,;	740	194	226	SUCCESS
ITIH5	80760	.	GRCh37	10	7627889	7627889	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	288	68	266	0	ENST00000256861.6:c.1083C>A	p.Tyr361Ter	p.Y361*	ENST00000256861	NM_030569.6	361	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	.	1083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGTACAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000256861	.	8/14	.	.	.	.	.	.	.	.	COSM920513,COSM1585128	8/14	PASS	ENST00000256861	Transcript	.	.	ENSG00000123243	21449	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ITIH5_HUMAN	ITIH5	HGNC	.	.	UPI00001F8AF3	SNV	ITIH5,stop_gained,p.Tyr361Ter,ENST00000397146,;ITIH5,stop_gained,p.Tyr143Ter,ENST00000446830,;ITIH5,stop_gained,p.Tyr147Ter,ENST00000298441,;ITIH5,stop_gained,p.Tyr361Ter,ENST00000256861,;ITIH5,stop_gained,p.Tyr361Ter,ENST00000397145,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,3_prime_UTR_variant,,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;	1162	266	356	SUCCESS
MYOF	26509	.	GRCh37	10	95116494	95116494	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	12	193	0	ENST00000359263.4:c.3232A>T	p.Arg1078Ter	p.R1078*	ENST00000359263	NM_013451.3	1078	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS41551.1	3232	MUTECT|MUSE	.	TTTTCTCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,SMART_domains:SM00694	.	.	ENSP00000352208	.	30/54	.	.	.	.	.	.	.	.	.	30/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,stop_gained,p.Arg1078Ter,ENST00000371502,;MYOF,stop_gained,p.Arg1065Ter,ENST00000358334,;MYOF,stop_gained,p.Arg1078Ter,ENST00000371501,;MYOF,stop_gained,p.Arg1078Ter,ENST00000359263,;MYOF,stop_gained,p.Arg453Ter,ENST00000463743,;	3232	193	184	SUCCESS
KIAA1377	0	.	GRCh37	11	101834387	101834387	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	47	118	0	ENST00000263468.8:c.2621C>T	p.Ser874Leu	p.S874L	ENST00000263468	NM_020802.2	874	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS31658.1	2621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCACTGC	NONE	.	.	Pfam_domain:PF15352,hmmpanther:PTHR31191	.	.	ENSP00000263468	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000263468	Transcript	.	.	ENSG00000110318	29264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0.03)	.	K1377_HUMAN	KIAA1377	HGNC	F5H5S1_HUMAN	.	UPI0000160A3D	SNV	KIAA1377,missense_variant,p.Ser675Leu,ENST00000537689,;KIAA1377,missense_variant,p.Ser874Leu,ENST00000263468,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;	2891	118	164	SUCCESS
MMP12	4321	.	GRCh37	11	102737122	102737122	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	40	157	0	ENST00000532855.1:n.1065C>T		p.*355*	ENST00000532855				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAAGGAAGA	NONE	.	.	.	.	.	.	.	7/10	.	.	.	.	.	.	.	.	COSM3868296	7/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	MMP12	HGNC	.	.	.	SNV	MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;MMP12,non_coding_transcript_exon_variant,,ENST00000326227,;	1065	157	175	SUCCESS
SLC35F2	54733	.	GRCh37	11	107677567	107677567	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	66	157	2	ENST00000525815.1:c.450T>C	p.Ala150=	p.A150=	ENST00000525815	NM_017515.4	150	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS41709.1	450	RADIA|VARSCANS	.	GACAGAGCCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Pfam_domain:PF06027,Superfamily_domains:0043518	.	.	ENSP00000436785	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000525815	Transcript	.	.	ENSG00000110660	23615	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S35F2_HUMAN	SLC35F2	HGNC	E9PKZ2_HUMAN,B4DUB9_HUMAN	.	UPI0000074335	SNV	SLC35F2,synonymous_variant,p.%3D,ENST00000525815,;SLC35F2,synonymous_variant,p.%3D,ENST00000429869,;SLC35F2,synonymous_variant,p.%3D,ENST00000375682,;SLC35F2,synonymous_variant,p.%3D,ENST00000525071,;SLC35F2,synonymous_variant,p.%3D,ENST00000265836,;SLC35F2,synonymous_variant,p.%3D,ENST00000532513,;SLC35F2,3_prime_UTR_variant,,ENST00000533664,;SLC35F2,downstream_gene_variant,,ENST00000524991,;	871	160	174	SUCCESS
ALG9	79796	.	GRCh37	11	111680436	111680436	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	8	101	0	ENST00000531154.1:c.1151A>T	p.Glu384Val	p.E384V	ENST00000531154	NM_024740.2	384	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41714.1	1151	MUTECT|MUSE	.	TTGGCTCCCGG	NONE	.	.	hmmpanther:PTHR22760:SF2,hmmpanther:PTHR22760	.	.	ENSP00000435517	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000531154	Transcript	.	.	ENSG00000086848	15672	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	ALG9_HUMAN	ALG9	HGNC	.	.	UPI000058E4B0	SNV	ALG9,missense_variant,p.Glu384Val,ENST00000531154,;ALG9,missense_variant,p.Glu133Val,ENST00000532425,;ALG9,missense_variant,p.Glu377Val,ENST00000398006,;ALG9,non_coding_transcript_exon_variant,,ENST00000530851,;ALG9,non_coding_transcript_exon_variant,,ENST00000527228,;ALG9,non_coding_transcript_exon_variant,,ENST00000532374,;ALG9,non_coding_transcript_exon_variant,,ENST00000526272,;ALG9,non_coding_transcript_exon_variant,,ENST00000527212,;ALG9,non_coding_transcript_exon_variant,,ENST00000524457,;ALG9,3_prime_UTR_variant,,ENST00000524880,;ALG9,upstream_gene_variant,,ENST00000525910,;ALG9,upstream_gene_variant,,ENST00000524671,;	1624	101	118	SUCCESS
DIXDC1	85458	.	GRCh37	11	111864260	111864260	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	13	170	0	ENST00000440460.2:c.1310A>T	p.Gln437Leu	p.Q437L	ENST00000440460	NM_001037954.3	437	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	.	1310	MUTECT|MUSE	.	GCACCAGGCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF18	.	.	ENSP00000394352	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000440460	Transcript	.	.	ENSG00000150764	23695	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	.	DIXDC1	HGNC	J3KQC9_HUMAN	.	UPI00015E0094	SNV	DIXDC1,missense_variant,p.Gln437Leu,ENST00000440460,;DIXDC1,missense_variant,p.Gln226Leu,ENST00000315253,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000530411,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000389821,;DIXDC1,downstream_gene_variant,,ENST00000524385,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524609,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000526500,;DIXDC1,upstream_gene_variant,,ENST00000530645,;	1607	170	183	SUCCESS
IL10RA	3587	.	GRCh37	11	117869879	117869879	+	synonymous_variant	Silent	SNP	G	G	T	rs199604463	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	114	0	ENST00000227752.3:c.1260G>T	p.Ser420=	p.S420=	ENST00000227752	NM_001558.3	420	tcG/tcT	0	A:0.0005	A:0.0008	.	A:0.0043	.	T	S	protein_coding	YES	CCDS8388.1	1260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCGGCCTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	A:0	A:0	ENSP00000227752	A:0	7/7	.	.	.	.	.	.	.	.	rs199604463	7/7	PASS	ENST00000227752	Transcript	.	A:0.0008	ENSG00000110324	5964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	I10R1_HUMAN	IL10RA	HGNC	F5H5Y4_HUMAN	.	UPI000013C8BF	SNV	IL10RA,synonymous_variant,p.%3D,ENST00000227752,;IL10RA,synonymous_variant,p.%3D,ENST00000541785,;IL10RA,synonymous_variant,p.%3D,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,3_prime_UTR_variant,,ENST00000526544,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000525467,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,downstream_gene_variant,,ENST00000530178,;IL10RA,downstream_gene_variant,,ENST00000532009,;	1380	114	115	SUCCESS
TRAPPC4	51399	.	GRCh37	11	118889502	118889502	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	109	0	ENST00000533632.1:c.-4A>T		p.*2*	ENST00000533632	NM_016146.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8407.1	.	MUTECT|MUSE	.	AAGGCAGCGAT	NONE	.	.	.	.	.	ENSP00000436005	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000533632	Transcript	.	.	ENSG00000196655	19943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPPC4_HUMAN	TRAPPC4	HGNC	G3V1A0_HUMAN	.	UPI0000052E23	SNV	TRAPPC4,5_prime_UTR_variant,,ENST00000533632,;TRAPPC4,5_prime_UTR_variant,,ENST00000533058,;TRAPPC4,5_prime_UTR_variant,,ENST00000528230,;TRAPPC4,5_prime_UTR_variant,,ENST00000359005,;TRAPPC4,5_prime_UTR_variant,,ENST00000434101,;TRAPPC4,5_prime_UTR_variant,,ENST00000525303,;CCDC84,downstream_gene_variant,,ENST00000334418,;RPS25,upstream_gene_variant,,ENST00000527673,;MIR3656,upstream_gene_variant,,ENST00000577421,;RPS25,upstream_gene_variant,,ENST00000528547,;CCDC84,downstream_gene_variant,,ENST00000580556,;TRAPPC4,upstream_gene_variant,,ENST00000526141,;TRAPPC4,5_prime_UTR_variant,,ENST00000525079,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000531290,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000527680,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000447216,;TRAPPC4,upstream_gene_variant,,ENST00000533012,;TRAPPC4,upstream_gene_variant,,ENST00000524797,;CCDC84,downstream_gene_variant,,ENST00000526463,;CCDC84,downstream_gene_variant,,ENST00000532132,;RPS25,upstream_gene_variant,,ENST00000527853,;RPS25,upstream_gene_variant,,ENST00000532567,;RPS25,upstream_gene_variant,,ENST00000527791,;TRAPPC4,upstream_gene_variant,,ENST00000533149,;CCDC84,downstream_gene_variant,,ENST00000533787,;CCDC84,downstream_gene_variant,,ENST00000527356,;CCDC84,downstream_gene_variant,,ENST00000583842,;RPS25,upstream_gene_variant,,ENST00000524864,;	361	109	137	SUCCESS
TPH1	7166	.	GRCh37	11	18057649	18057649	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	51	0	ENST00000250018.2:c.158C>G	p.Ser53Ter	p.S53*	ENST00000250018	NM_004179.2	53	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS7829.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGATTTT	NONE	.	.	PROSITE_profiles:PS51671,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF23,Pfam_domain:PF01842,TIGRFAM_domain:TIGR01270,Gene3D:1.10.800.10,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF55021	.	.	ENSP00000250018	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000250018	Transcript	.	.	ENSG00000129167	12008	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPH1_HUMAN	TPH1	HGNC	B3VS10_HUMAN,B3VS05_HUMAN,B3VS00_HUMAN,B3VRZ5_HUMAN,B3VRZ0_HUMAN,B3VRY5_HUMAN,B3VRY0_HUMAN,B3VRX5_HUMAN,B3VRX0_HUMAN,B3VRW5_HUMAN	.	UPI000013CC9C	SNV	TPH1,stop_gained,p.Ser63Ter,ENST00000528338,;TPH1,stop_gained,p.Ser53Ter,ENST00000250018,;TPH1,stop_gained,p.Ser53Ter,ENST00000341556,;TPH1,stop_gained,p.Ser53Ter,ENST00000417164,;	721	51	51	SUCCESS
MRGPRX3	117195	.	GRCh37	11	18158779	18158779	+	synonymous_variant	Silent	SNP	A	A	T	rs754958061	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	357	11	312	0	ENST00000396275.2:c.30A>T	p.Thr10=	p.T10=	ENST00000396275	NM_054031.3	10	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7830.1	30	MUTECT|MUSE	.	GGTACAGAACT	NONE	byFrequency	.	hmmpanther:PTHR11334:SF22,hmmpanther:PTHR11334	.	.	ENSP00000379571	.	3/3	.	.	.	.	.	.	.	.	rs754958061	3/3	PASS	ENST00000396275	Transcript	.	.	ENSG00000179826	17980	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRGX3_HUMAN	MRGPRX3	HGNC	E9PPY5_HUMAN	.	UPI0000061FCF	SNV	MRGPRX3,synonymous_variant,p.%3D,ENST00000531264,;MRGPRX3,synonymous_variant,p.%3D,ENST00000396275,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;	391	312	368	SUCCESS
SAA1	6288	.	GRCh37	11	18291314	18291315	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	240	81	218	0	ENST00000356524.4:c.281_282insA	p.Leu95AlafsTer3	p.L95Afs*3	ENST00000356524	NM_199161.3	94	tcg/tcAg	0	.	.	.	.	.	A	S/SX	protein_coding	YES	CCDS7835.1	281-282	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTCGCTGG	NONE	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,Pfam_domain:PF00277,SMART_domains:SM00197,PIRSF_domain:PIRSF002472	.	.	ENSP00000384906	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000405158	Transcript	.	.	ENSG00000173432	10513	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAA1_HUMAN	SAA1	HGNC	E9PQD6_HUMAN	.	UPI000013F119	insertion	SAA1,frameshift_variant,p.Leu95AlafsTer3,ENST00000356524,;SAA1,frameshift_variant,p.Leu95AlafsTer3,ENST00000405158,;SAA1,frameshift_variant,p.Leu95AlafsTer3,ENST00000532858,;RNA5SP334,downstream_gene_variant,,ENST00000364825,;	465-466	218	321	SUCCESS
METTL15	196074	.	GRCh37	11	28135039	28135039	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	50	114	0	ENST00000407364.3:c.158A>C	p.Gln53Pro	p.Q53P	ENST00000407364		53	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS44559.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAAGCCC	BUFFER|p.D50Y|c.148G>T|4,BUFFER|p.D50Y|c.148G>T|3	.	.	hmmpanther:PTHR11265:SF0,hmmpanther:PTHR11265	.	.	ENSP00000384369	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000407364	Transcript	.	.	ENSG00000169519	26606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated_low_confidence(0.16)	.	MET15_HUMAN	METTL15	HGNC	.	.	UPI0000DBEF34	SNV	METTL15,missense_variant,p.Gln53Pro,ENST00000379199,;METTL15,missense_variant,p.Gln53Pro,ENST00000342303,;METTL15,missense_variant,p.Gln53Pro,ENST00000407364,;METTL15,missense_variant,p.Gln53Pro,ENST00000406787,;METTL15,missense_variant,p.Gln53Pro,ENST00000303459,;METTL15,missense_variant,p.Gln53Pro,ENST00000403099,;METTL15,missense_variant,p.Gln53Pro,ENST00000451385,;METTL15,missense_variant,p.Gln53Pro,ENST00000437814,;	510	114	140	SUCCESS
LRP4-AS1	100507401	.	GRCh37	11	46895256	46895256	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	14	0	ENST00000502049.2:n.813A>T		p.*271*	ENST00000502049				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31478.1	.	MUTECT|MUSE	.	GGGATAGAGAC	NONE	.	.	.	.	.	ENSP00000367888	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODIFIER	28/37	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,intron_variant,,ENST00000378623,;LRP4-AS1,non_coding_transcript_exon_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000527656,;	.	14	20	SUCCESS
UBQLNL	143630	.	GRCh37	11	5537570	5537570	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	9	105	0	ENST00000380184.1:c.102A>T	p.Ile34=	p.I34=	ENST00000380184	NM_145053.4	34	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31385.1	102	MUTECT|MUSE	.	TTCACTATCAC	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000369531	.	1/1	.	.	.	.	.	.	.	.	COSM4033646	1/1	PASS	ENST00000380184	Transcript	.	.	ENSG00000175518	28294	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	UBQLN_HUMAN	UBQLNL	HGNC	.	.	UPI000066D8EC	SNV	UBQLNL,synonymous_variant,p.%3D,ENST00000380184,;HBG2,intron_variant,,ENST00000380259,;AC087380.14,downstream_gene_variant,,ENST00000411807,;	366	105	130	SUCCESS
PATL1	219988	.	GRCh37	11	59420493	59420493	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	88	0	ENST00000300146.9:c.1122-2A>T		p.X374_splice	ENST00000300146	NM_152716.2	374		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44613.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACTGAAAA	NONE	.	.	.	.	.	ENSP00000300146	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300146	Transcript	.	.	ENSG00000166889	26721	.	.	HIGH	9/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PATL1_HUMAN	PATL1	HGNC	B3KXN0_HUMAN	.	UPI00001FA7D8	SNV	PATL1,splice_acceptor_variant,,ENST00000300146,;	.	88	101	SUCCESS
MS4A2	2206	.	GRCh37	11	59857913	59857913	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	37	0	ENST00000278888.3:c.291A>T	p.Lys97Asn	p.K97N	ENST00000278888	NM_000139.4	97	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7980.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAAGCAGG	NONE	.	.	Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9	.	.	ENSP00000278888	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	tolerated(0.1)	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,missense_variant,p.Lys97Asn,ENST00000278888,;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	393	37	44	SUCCESS
CD6	923	.	GRCh37	11	60777231	60777231	+	synonymous_variant	Silent	SNP	C	C	G	rs150066453	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	109	0	ENST00000313421.7:c.969C>G	p.Ser323=	p.S323=	ENST00000313421	NM_006725.4	323	tcC/tcG	0	T:0.0002	.	.	.	.	G	S	protein_coding	YES	CCDS7999.1	969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCCGGCAG	NONE	byCluster	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331:SF252,hmmpanther:PTHR19331,PROSITE_profiles:PS50287	.	T:0	ENSP00000323280	.	5/13	.	.	.	.	.	.	.	.	rs150066453	5/13	PASS	ENST00000313421	Transcript	.	.	ENSG00000013725	1691	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD6_HUMAN	CD6	HGNC	.	.	UPI000013F532	SNV	CD6,synonymous_variant,p.%3D,ENST00000346437,;CD6,synonymous_variant,p.%3D,ENST00000452451,;CD6,synonymous_variant,p.%3D,ENST00000313421,;CD6,synonymous_variant,p.%3D,ENST00000344028,;CD6,synonymous_variant,p.%3D,ENST00000352009,;CD6,intron_variant,,ENST00000433107,;CD6,intron_variant,,ENST00000542157,;CD6,intron_variant,,ENST00000538611,;CD6,intron_variant,,ENST00000545105,;CD6,downstream_gene_variant,,ENST00000538288,;CD6,synonymous_variant,p.%3D,ENST00000344931,;CD6,downstream_gene_variant,,ENST00000542254,;CD6,downstream_gene_variant,,ENST00000541964,;	1155	109	115	SUCCESS
VWCE	220001	.	GRCh37	11	61026645	61026645	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	7	95	0	ENST00000335613.5:c.2370A>T	p.Ser790=	p.S790=	ENST00000335613	NM_152718.2	790	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS8002.1	2370	MUTECT|MUSE	.	GAGGGTGATGC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF250	.	.	ENSP00000334186	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000335613	Transcript	.	.	ENSG00000167992	26487	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VWCE_HUMAN	VWCE	HGNC	B4DY31_HUMAN	.	UPI000013E751	SNV	VWCE,synonymous_variant,p.%3D,ENST00000335613,;VWCE,synonymous_variant,p.%3D,ENST00000535710,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,non_coding_transcript_exon_variant,,ENST00000538438,;	2757	95	122	SUCCESS
CCKBR	887	.	GRCh37	11	6291552	6291552	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200729292	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	101	0	ENST00000334619.2:c.638G>A	p.Arg213Gln	p.R213Q	ENST00000334619	NM_176875.3	213	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS7761.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCGGGTCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00527	.	.	ENSP00000335544	.	3/5	.	.	.	.	.	.	.	.	rs200729292,COSM1509413,COSM1509414	3/5	PASS	ENST00000334619	Transcript	.	.	ENSG00000110148	1571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.003)	.	tolerated(0.64)	0,1,1	GASR_HUMAN	CCKBR	HGNC	.	.	UPI0000000C18	SNV	CCKBR,missense_variant,p.Arg213Gln,ENST00000525462,;CCKBR,missense_variant,p.Arg129Gln,ENST00000532715,;CCKBR,missense_variant,p.Arg213Gln,ENST00000334619,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,upstream_gene_variant,,ENST00000532396,;	831	101	83	SUCCESS
PLCB3	5331	.	GRCh37	11	64023034	64023034	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	6	125	0	ENST00000279230.6:c.543A>T	p.Ala181=	p.A181=	ENST00000279230		181	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8064.1	543	MUTECT|MUSE	.	TCAGCAGACAA	NONE	.	.	Superfamily_domains:SSF47473,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336	.	.	ENSP00000443631	.	7/32	.	.	.	.	.	.	.	.	.	7/32	PASS	ENST00000540288	Transcript	.	.	ENSG00000149782	9056	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCB3_HUMAN	PLCB3	HGNC	.	.	UPI0000131AFF	SNV	PLCB3,synonymous_variant,p.%3D,ENST00000325234,;PLCB3,synonymous_variant,p.%3D,ENST00000540288,;PLCB3,synonymous_variant,p.%3D,ENST00000279230,;	646	125	123	SUCCESS
SLC22A12	116085	.	GRCh37	11	64366298	64366298	+	synonymous_variant	Silent	SNP	C	C	A	rs150255373	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	43	0	ENST00000377574.1:c.973C>A	p.Arg325=	p.R325=	ENST00000377574	NM_144585.3	325	Cgg/Agg	0	T:0	T:0	.	T:0	.	A	R	protein_coding	YES	CCDS8075.1	973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCGGGAG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF130,hmmpanther:PTHR24064,Pfam_domain:PF07690,Superfamily_domains:SSF103473	T:0	T:0.0008	ENSP00000366797	T:0.001	6/10	.	.	.	.	.	.	.	.	rs150255373	6/10	PASS	ENST00000377574	Transcript	.	T:0.0002	ENSG00000197891	17989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	S22AC_HUMAN	SLC22A12	HGNC	G3XAN7_HUMAN	.	UPI0000040C17	SNV	SLC22A12,synonymous_variant,p.%3D,ENST00000473690,;SLC22A12,synonymous_variant,p.%3D,ENST00000377574,;SLC22A12,synonymous_variant,p.%3D,ENST00000336464,;SLC22A12,synonymous_variant,p.%3D,ENST00000377567,;SLC22A12,synonymous_variant,p.%3D,ENST00000377572,;	1720	43	32	SUCCESS
PPP2R5B	5526	.	GRCh37	11	64693301	64693301	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1204682464	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	28	0	ENST00000164133.2:c.95C>T	p.Ser32Phe	p.S32F	ENST00000164133	NM_006244.3	32	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS8085.1	95	MUTECT|MUSE	.	CTTCTCCCGCC	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF028043,hmmpanther:PTHR10257:SF4,hmmpanther:PTHR10257	.	.	ENSP00000164133	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000164133	Transcript	.	.	ENSG00000068971	9310	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.462)	.	deleterious(0.01)	.	2A5B_HUMAN	PPP2R5B	HGNC	E9PQN5_HUMAN,E9PNY3_HUMAN	.	UPI000000DAF4	SNV	PPP2R5B,missense_variant,p.Ser32Phe,ENST00000526559,;PPP2R5B,missense_variant,p.Ser32Phe,ENST00000164133,;PPP2R5B,intron_variant,,ENST00000532850,;PPP2R5B,downstream_gene_variant,,ENST00000413292,;PPP2R5B,upstream_gene_variant,,ENST00000528530,;	717	28	20	SUCCESS
FAU	2197	.	GRCh37	11	64888161	64888161	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	99	0	ENST00000527548.1:c.394A>T	p.Asn132Tyr	p.N132Y	ENST00000527548		132	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8095.1	394	MUTECT|MUSE	.	AGAGTTGGCAT	NONE	.	.	hmmpanther:PTHR12650,Pfam_domain:PF04758	.	.	ENSP00000435370	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000529639	Transcript	.	.	ENSG00000149806	3597	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	UBIM_HUMAN,RS30_HUMAN	FAU	HGNC	E9PM49_HUMAN	.	UPI000006EA56	SNV	FAU,missense_variant,p.Asn97Tyr,ENST00000525297,;FAU,missense_variant,p.Asn132Tyr,ENST00000529639,;FAU,missense_variant,p.Asn132Tyr,ENST00000527548,;FAU,missense_variant,p.Asn132Tyr,ENST00000531743,;FAU,3_prime_UTR_variant,,ENST00000279259,;MRPL49,upstream_gene_variant,,ENST00000534078,;TM7SF2,downstream_gene_variant,,ENST00000279263,;FAU,downstream_gene_variant,,ENST00000526555,;ZNHIT2,upstream_gene_variant,,ENST00000310597,;MRPL49,upstream_gene_variant,,ENST00000526171,;FAU,downstream_gene_variant,,ENST00000529259,;FAU,downstream_gene_variant,,ENST00000434372,;TM7SF2,downstream_gene_variant,,ENST00000527968,;TM7SF2,downstream_gene_variant,,ENST00000345348,;MRPL49,upstream_gene_variant,,ENST00000279242,;MRPL49,upstream_gene_variant,,ENST00000533943,;ZNHIT2,upstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000540748,;MRPL49,upstream_gene_variant,,ENST00000531705,;TM7SF2,downstream_gene_variant,,ENST00000528802,;AP003068.12,downstream_gene_variant,,ENST00000527789,;MRPL49,upstream_gene_variant,,ENST00000524482,;MRPL49,upstream_gene_variant,,ENST00000528529,;FAU,non_coding_transcript_exon_variant,,ENST00000531357,;TM7SF2,downstream_gene_variant,,ENST00000529601,;TM7SF2,downstream_gene_variant,,ENST00000530650,;TM7SF2,downstream_gene_variant,,ENST00000529292,;TM7SF2,downstream_gene_variant,,ENST00000526048,;MRPL49,upstream_gene_variant,,ENST00000526319,;MRPL49,upstream_gene_variant,,ENST00000532671,;SYVN1,downstream_gene_variant,,ENST00000530451,;	786	99	120	SUCCESS
SPDYC	387778	.	GRCh37	11	64939933	64939933	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	16	186	0	ENST00000377185.2:c.373C>T	p.Leu125=	p.L125=	ENST00000377185	NM_001008778.1	125	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31606.1	373	MUTECT|MUSE	.	AGGACCTGGAG	NONE	.	.	hmmpanther:PTHR31545:SF2,hmmpanther:PTHR31545,Pfam_domain:PF11357	.	.	ENSP00000366390	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000377185	Transcript	.	.	ENSG00000204710	32681	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPDYC_HUMAN	SPDYC	HGNC	.	.	UPI00004A072F	SNV	SPDYC,synonymous_variant,p.%3D,ENST00000377185,;AP003068.18,downstream_gene_variant,,ENST00000534819,;AP003068.18,downstream_gene_variant,,ENST00000526979,;PGAM1P8,downstream_gene_variant,,ENST00000505544,;	455	186	231	SUCCESS
TSKU	25987	.	GRCh37	11	76506948	76506950	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	CAC	CAC	.	.	.	.	.	.	.	.	.	.	.	.	.	134	15	153	0	ENST00000333090.4:c.290_292del	p.Thr97del	p.T97del	ENST00000333090	NM_015516.3	96	ctCACc/ctc	0	.	.	.	.	.	-	LT/L	protein_coding	YES	CCDS8246.1	288-290	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGCTCACCAGCA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF244,hmmpanther:PTHR24365,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000434847	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000527881	Transcript	.	.	ENSG00000182704	28850	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSK_HUMAN	TSKU	HGNC	E9PN12_HUMAN,E9PLG7_HUMAN	.	UPI000006E7B7	deletion	TSKU,inframe_deletion,p.Thr97del,ENST00000533752,;TSKU,inframe_deletion,p.Thr97del,ENST00000333090,;TSKU,inframe_deletion,p.Thr97del,ENST00000525167,;TSKU,inframe_deletion,p.Thr97del,ENST00000527881,;RP11-21L23.2,upstream_gene_variant,,ENST00000566747,;	1314-1316	153	149	SUCCESS
MIR708	100126333	.	GRCh37	11	79113136	79113136	+	mature_miRNA_variant	RNA	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	53	125	0	ENST00000390708.1:n.18T>C		p.*6*	ENST00000390708				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAAGCTCC	NONE	.	.	.	.	.	ENSP00000278550	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODIFIER	1/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,intron_variant,,ENST00000278550,;MIR708,mature_miRNA_variant,,ENST00000390708,;TENM4,intron_variant,,ENST00000531583,;TENM4,intron_variant,,ENST00000528688,;	.	125	142	SUCCESS
DENND5A	23258	.	GRCh37	11	9182408	9182408	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	236	15	201	0	ENST00000328194.3:c.2288A>C	p.Lys763Thr	p.K763T	ENST00000328194	NM_015213.3	763	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS31423.1	2288	MUTECT|MUSE	.	TCCTCTTGGTC	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,Superfamily_domains:0052343	.	.	ENSP00000328524	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000328194	Transcript	.	.	ENSG00000184014	19344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DEN5A_HUMAN	DENND5A	HGNC	B3KWN5_HUMAN	.	UPI00001C1F29	SNV	DENND5A,missense_variant,p.Lys763Thr,ENST00000328194,;DENND5A,missense_variant,p.Lys763Thr,ENST00000530044,;DENND5A,missense_variant,p.Lys106Thr,ENST00000527700,;DENND5A,missense_variant,p.Lys739Thr,ENST00000526707,;	2609	201	252	SUCCESS
TAF1D	79101	.	GRCh37	11	93471382	93471382	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	28	0	ENST00000323981.2:c.352T>C	p.Ser118Pro	p.S118P	ENST00000323981		118	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS8293.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGAGTATA	NONE	.	.	hmmpanther:PTHR14562,Pfam_domain:PF15333	.	.	ENSP00000410409	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000448108	Transcript	.	.	ENSG00000166012	28759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	deleterious(0.04)	.	TAF1D_HUMAN	TAF1D	HGNC	H0YG36_HUMAN	.	UPI000006D0AF	SNV	TAF1D,missense_variant,p.Ser118Pro,ENST00000448108,;TAF1D,3_prime_UTR_variant,,ENST00000532455,;C11orf54,upstream_gene_variant,,ENST00000530620,;C11orf54,upstream_gene_variant,,ENST00000528099,;C11orf54,upstream_gene_variant,,ENST00000533585,;C11orf54,upstream_gene_variant,,ENST00000530279,;C11orf54,upstream_gene_variant,,ENST00000331239,;TAF1D,downstream_gene_variant,,ENST00000527690,;C11orf54,upstream_gene_variant,,ENST00000527003,;C11orf54,upstream_gene_variant,,ENST00000531650,;C11orf54,upstream_gene_variant,,ENST00000540113,;C11orf54,upstream_gene_variant,,ENST00000528288,;C11orf54,upstream_gene_variant,,ENST00000354421,;SNORD5,upstream_gene_variant,,ENST00000459342,;SNORA40,upstream_gene_variant,,ENST00000388090,;SNORA18,upstream_gene_variant,,ENST00000384416,;MIR1304,upstream_gene_variant,,ENST00000408243,;TAF1D,intron_variant,,ENST00000532235,;TAF1D,upstream_gene_variant,,ENST00000530089,;TAF1D,upstream_gene_variant,,ENST00000546088,;C11orf54,upstream_gene_variant,,ENST00000531516,;TAF1D,missense_variant,p.Ser118Pro,ENST00000323981,;TAF1D,missense_variant,p.Ser118Pro,ENST00000527169,;TAF1D,missense_variant,p.Ser118Pro,ENST00000526015,;TAF1D,3_prime_UTR_variant,,ENST00000534770,;TAF1D,non_coding_transcript_exon_variant,,ENST00000527068,;TAF1D,upstream_gene_variant,,ENST00000533794,;TAF1D,upstream_gene_variant,,ENST00000528734,;TAF1D,upstream_gene_variant,,ENST00000540232,;TAF1D,upstream_gene_variant,,ENST00000529794,;TAF1D,upstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000529508,;TAF1D,upstream_gene_variant,,ENST00000393259,;TAF1D,upstream_gene_variant,,ENST00000530769,;TAF1D,upstream_gene_variant,,ENST00000525928,;	1003	28	19	SUCCESS
STAB2	55576	.	GRCh37	12	104067722	104067722	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	12	129	0	ENST00000388887.2:c.2409A>T	p.Ile803=	p.I803=	ENST00000388887	NM_017564.9	803	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31888.1	2409	RADIA|MUTECT|MUSE|VARSCANS	.	AGGATAGACAG	NONE	.	.	hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000373539	.	23/69	.	.	.	.	.	.	.	.	.	23/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,synonymous_variant,p.%3D,ENST00000388887,;RP11-341G23.3,upstream_gene_variant,,ENST00000550175,;	2613	129	126	SUCCESS
ALKBH2	121642	.	GRCh37	12	109526088	109526088	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs772775278	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	58	0	ENST00000343075.3:c.709A>C	p.Ser237Arg	p.S237R	ENST00000343075	NM_001001655.2	237	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS31897.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACTGTGGT	NONE	byFrequency	.	PROSITE_profiles:PS51471,hmmpanther:PTHR31573,hmmpanther:PTHR31573:SF1,Gene3D:3i3qA00,Pfam_domain:PF13532,Superfamily_domains:SSF51197	.	.	ENSP00000398181	.	4/4	.	.	.	.	.	.	.	.	rs772775278	4/4	PASS	ENST00000429722	Transcript	.	.	ENSG00000189046	32487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ALKB2_HUMAN	ALKBH2	HGNC	F5H5X2_HUMAN,F5GZZ0_HUMAN	.	UPI0000160F58	SNV	ALKBH2,missense_variant,p.Ser237Arg,ENST00000429722,;ALKBH2,missense_variant,p.Ser237Arg,ENST00000343075,;ALKBH2,3_prime_UTR_variant,,ENST00000440112,;USP30,downstream_gene_variant,,ENST00000392784,;USP30,downstream_gene_variant,,ENST00000257548,;ALKBH2,downstream_gene_variant,,ENST00000543444,;ALKBH2,downstream_gene_variant,,ENST00000536358,;ALKBH2,downstream_gene_variant,,ENST00000536242,;ALKBH2,downstream_gene_variant,,ENST00000536720,;USP30,downstream_gene_variant,,ENST00000470117,;USP30,downstream_gene_variant,,ENST00000479219,;USP30,downstream_gene_variant,,ENST00000491362,;	1073	58	57	SUCCESS
PRH1	5554	.	GRCh37	12	11036772	11036772	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	14	193	0	ENST00000428168.2:c.45A>T	p.Ser15=	p.S15=	ENST00000428168	NM_006250.3	15	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	.	45	MUTECT|MUSE	.	TGAGCTGAGCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23203,Pfam_domain:PF15240	.	.	ENSP00000412436	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000428168	Transcript	.	.	ENSG00000231887	9366	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PRH1	HGNC	.	.	UPI0000141771	SNV	PRH1,synonymous_variant,p.%3D,ENST00000428168,;PRR4,non_coding_transcript_exon_variant,,ENST00000539853,;PRR4,non_coding_transcript_exon_variant,,ENST00000543626,;PRR4,non_coding_transcript_exon_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;PRR4,upstream_gene_variant,,ENST00000543480,;PRR4,upstream_gene_variant,,ENST00000538332,;	83	193	192	SUCCESS
RPH3A	22895	.	GRCh37	12	113312977	113312977	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	69	0	ENST00000389385.4:c.883+2T>C		p.X295_splice	ENST00000389385	NM_001143854.1	295		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44979.1	.	MUTECT|MUSE	.	CCAGGTACCTG	NONE	.	.	.	.	.	ENSP00000374036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389385	Transcript	.	.	ENSG00000089169	17056	.	.	HIGH	11/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RP3A_HUMAN	RPH3A	HGNC	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN	.	UPI000013456D	SNV	RPH3A,splice_donor_variant,,ENST00000548866,;RPH3A,splice_donor_variant,,ENST00000420983,;RPH3A,splice_donor_variant,,ENST00000415485,;RPH3A,splice_donor_variant,,ENST00000551052,;RPH3A,splice_donor_variant,,ENST00000543106,;RPH3A,splice_donor_variant,,ENST00000389385,;RPH3A,splice_donor_variant,,ENST00000447659,;RPH3A,splice_donor_variant,,ENST00000552755,;RPH3A,splice_donor_variant,,ENST00000549913,;	.	69	34	SUCCESS
OASL	8638	.	GRCh37	12	121458369	121458369	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	68	0	ENST00000257570.5:c.1540A>T	p.Ser514Cys	p.S514C	ENST00000257570	NM_003733.3	514	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS9211.1	1540	RADIA|MUTECT|MUSE	.	CTAACTGGCTG	NONE	.	.	.	.	.	ENSP00000257570	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000257570	Transcript	.	.	ENSG00000135114	8090	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	deleterious_low_confidence(0)	.	OASL_HUMAN	OASL	HGNC	.	.	UPI000005339E	SNV	OASL,missense_variant,p.Ser514Cys,ENST00000257570,;OASL,3_prime_UTR_variant,,ENST00000339275,;C12orf43,upstream_gene_variant,,ENST00000538296,;C12orf43,upstream_gene_variant,,ENST00000536407,;C12orf43,upstream_gene_variant,,ENST00000539736,;C12orf43,upstream_gene_variant,,ENST00000445832,;C12orf43,upstream_gene_variant,,ENST00000535367,;C12orf43,upstream_gene_variant,,ENST00000288757,;C12orf43,upstream_gene_variant,,ENST00000366211,;C12orf43,upstream_gene_variant,,ENST00000537817,;OASL,downstream_gene_variant,,ENST00000543677,;C12orf43,upstream_gene_variant,,ENST00000539088,;C12orf43,upstream_gene_variant,,ENST00000508193,;	1811	68	53	SUCCESS
OASL	8638	.	GRCh37	12	121458371	121458371	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	71	0	ENST00000257570.5:c.1538C>G	p.Ala513Gly	p.A513G	ENST00000257570	NM_003733.3	513	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS9211.1	1538	RADIA|MUTECT|MUSE	.	AACTGGCTGGA	NONE	.	.	.	.	.	ENSP00000257570	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000257570	Transcript	.	.	ENSG00000135114	8090	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.25)	.	OASL_HUMAN	OASL	HGNC	.	.	UPI000005339E	SNV	OASL,missense_variant,p.Ala513Gly,ENST00000257570,;OASL,3_prime_UTR_variant,,ENST00000339275,;C12orf43,upstream_gene_variant,,ENST00000538296,;C12orf43,upstream_gene_variant,,ENST00000536407,;C12orf43,upstream_gene_variant,,ENST00000539736,;C12orf43,upstream_gene_variant,,ENST00000445832,;C12orf43,upstream_gene_variant,,ENST00000535367,;C12orf43,upstream_gene_variant,,ENST00000288757,;C12orf43,upstream_gene_variant,,ENST00000366211,;C12orf43,upstream_gene_variant,,ENST00000537817,;OASL,downstream_gene_variant,,ENST00000543677,;C12orf43,upstream_gene_variant,,ENST00000539088,;C12orf43,upstream_gene_variant,,ENST00000508193,;	1809	71	53	SUCCESS
B3GNT4	79369	.	GRCh37	12	122691677	122691677	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	129	0	ENST00000324189.4:c.879T>A	p.Ala293=	p.A293=	ENST00000324189	NM_030765.2	293	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9227.1	879	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTATCAT	NONE	.	.	hmmpanther:PTHR11214:SF27,hmmpanther:PTHR11214,Pfam_domain:PF01762	.	.	ENSP00000319636	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000324189	Transcript	.	.	ENSG00000176383	15683	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B3GN4_HUMAN	B3GNT4	HGNC	.	.	UPI0000051E30	SNV	B3GNT4,synonymous_variant,p.%3D,ENST00000535274,;B3GNT4,synonymous_variant,p.%3D,ENST00000546192,;B3GNT4,synonymous_variant,p.%3D,ENST00000324189,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000353548,;DIABLO,downstream_gene_variant,,ENST00000464942,;DIABLO,downstream_gene_variant,,ENST00000413918,;DIABLO,downstream_gene_variant,,ENST00000541273,;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000267169,;LRRC43,downstream_gene_variant,,ENST00000425921,;LRRC43,downstream_gene_variant,,ENST00000339777,;DIABLO,downstream_gene_variant,,ENST00000443649,;B3GNT4,non_coding_transcript_exon_variant,,ENST00000538257,;B3GNT4,intron_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000537733,;B3GNT4,downstream_gene_variant,,ENST00000537991,;DIABLO,downstream_gene_variant,,ENST00000342392,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;	1235	129	83	SUCCESS
MMP17	4326	.	GRCh37	12	132334436	132334436	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749455826	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	22	264	0	ENST00000360564.1:c.1294G>A	p.Asp432Asn	p.D432N	ENST00000360564	NM_016155.4	432	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS31927.1	1294	RADIA|MUTECT|MUSE|VARSCANS	.	GCATCGACGCT	NONE	byFrequency	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF118,Pfam_domain:PF00045,Gene3D:2.110.10.10,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000353767	.	9/10	.	.	.	.	.	.	.	.	rs749455826,COSM937101,COSM937100	9/10	PASS	ENST00000360564	Transcript	.	.	ENSG00000198598	7163	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,1,1	MMP17_HUMAN	MMP17	HGNC	F5H881_HUMAN,F5H249_HUMAN,F5H209_HUMAN,F5GZA7_HUMAN,F5GWR3_HUMAN	.	UPI00001AF305	SNV	MMP17,missense_variant,p.Asp348Asn,ENST00000535291,;MMP17,missense_variant,p.Asp432Asn,ENST00000360564,;MMP17,missense_variant,p.Asp62Asn,ENST00000542648,;MMP17,missense_variant,p.Asp273Asn,ENST00000534865,;MMP17,intron_variant,,ENST00000535004,;MMP17,downstream_gene_variant,,ENST00000535182,;MMP17,non_coding_transcript_exon_variant,,ENST00000535271,;MMP17,intron_variant,,ENST00000537848,;	1396	265	159	SUCCESS
ULK1	8408	.	GRCh37	12	132396633	132396633	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	185	0	ENST00000321867.4:c.1095A>G		p.X365_splice	ENST00000321867	NM_003565.2	365	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9274.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGGTCA	NONE	.	.	hmmpanther:PTHR24348:SF19,hmmpanther:PTHR24348,PIRSF_domain:PIRSF000580	.	.	ENSP00000324560	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000321867	Transcript	.	.	ENSG00000177169	12558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ULK1_HUMAN	ULK1	HGNC	F5H4E9_HUMAN,F5H1S7_HUMAN,F5GZQ0_HUMAN	.	UPI00001FB0D9	SNV	ULK1,synonymous_variant,p.%3D,ENST00000321867,;ULK1,downstream_gene_variant,,ENST00000542313,;ULK1,upstream_gene_variant,,ENST00000541761,;ULK1,downstream_gene_variant,,ENST00000537421,;	1446	185	69	SUCCESS
ITFG2	55846	.	GRCh37	12	2927434	2927434	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	49	133	0	ENST00000228799.2:c.397A>T	p.Ser133Cys	p.S133C	ENST00000228799	NM_018463.3	133	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8513.1	397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCAGCGAC	NONE	.	.	hmmpanther:PTHR16317,Gene3D:3nigC00,Superfamily_domains:SSF50978,Superfamily_domains:SSF69318	.	.	ENSP00000228799	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000228799	Transcript	.	.	ENSG00000111203	30879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	tolerated(0.07)	.	ITFG2_HUMAN	ITFG2	HGNC	H0YFM4_HUMAN,E7EST0_HUMAN	.	UPI00000373A8	SNV	ITFG2,missense_variant,p.Ser133Cys,ENST00000228799,;ITFG2,5_prime_UTR_variant,,ENST00000542548,;ITFG2,intron_variant,,ENST00000535564,;ITFG2,intron_variant,,ENST00000419778,;ITFG2,missense_variant,p.Ser133Cys,ENST00000540929,;ITFG2,non_coding_transcript_exon_variant,,ENST00000541659,;ITFG2,non_coding_transcript_exon_variant,,ENST00000543029,;ITFG2,intron_variant,,ENST00000537851,;ITFG2,upstream_gene_variant,,ENST00000537183,;ITFG2,upstream_gene_variant,,ENST00000534935,;	536	134	127	SUCCESS
LRRK2	120892	.	GRCh37	12	40626117	40626117	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	8	129	0	ENST00000298910.7:c.279A>T	p.Pro93=	p.P93=	ENST00000298910	NM_198578.3	93	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31774.1	279	MUTECT|MUSE	.	TGTCCAGGTAC	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Superfamily_domains:SSF48371	.	.	ENSP00000298910	.	3/51	.	.	.	.	.	.	.	.	.	3/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,synonymous_variant,p.%3D,ENST00000343742,;LRRK2,synonymous_variant,p.%3D,ENST00000416796,;LRRK2,synonymous_variant,p.%3D,ENST00000298910,;LRRK2,non_coding_transcript_exon_variant,,ENST00000474202,;	337	129	164	SUCCESS
NELL2	4753	.	GRCh37	12	44913954	44913954	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	45	115	0	ENST00000429094.2:c.2234T>A	p.Ile745Asn	p.I745N	ENST00000429094	NM_001145108.1	745	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS44863.1	2384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAATGCTG	NONE	.	.	Superfamily_domains:SSF57603,SMART_domains:SM00215,SMART_domains:SM00214,Pfam_domain:PF00093,PROSITE_patterns:PS01208,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,PROSITE_profiles:PS50184	.	.	ENSP00000416341	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000437801	Transcript	.	.	ENSG00000184613	7751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.481)	.	deleterious(0)	.	NELL2_HUMAN	NELL2	HGNC	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN	.	UPI000191537D	SNV	NELL2,missense_variant,p.Ile697Asn,ENST00000551601,;NELL2,missense_variant,p.Ile768Asn,ENST00000333837,;NELL2,missense_variant,p.Ile744Asn,ENST00000549027,;NELL2,missense_variant,p.Ile745Asn,ENST00000429094,;NELL2,missense_variant,p.Ile795Asn,ENST00000437801,;NELL2,missense_variant,p.Ile745Asn,ENST00000452445,;NELL2,missense_variant,p.Ile744Asn,ENST00000395487,;NELL2,downstream_gene_variant,,ENST00000550139,;NELL2,downstream_gene_variant,,ENST00000547636,;	2756	115	161	SUCCESS
KRT86	3892	.	GRCh37	12	52699941	52699941	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs747720953	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	185	0	ENST00000293525.5:c.1124T>A	p.Leu375Gln	p.L375Q	ENST00000293525	NM_002284.3	375	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS41785.1	1124	MUTECT|MUSE	.	TGCCCTGCAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000293525	.	7/9	.	.	.	.	.	.	.	.	rs747720953	7/9	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,missense_variant,p.Leu375Gln,ENST00000293525,;KRT86,missense_variant,p.Leu375Gln,ENST00000423955,;KRT86,missense_variant,p.Leu375Gln,ENST00000544024,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	1176	185	100	SUCCESS
ITGA7	3679	.	GRCh37	12	56087893	56087893	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	283	11	272	0	ENST00000555728.1:c.2579A>T	p.Gln860Leu	p.Q860L	ENST00000555728		860	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS55832.1	2459	MUTECT|MUSE	.	GTTGCTGGGGA	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.287)	.	deleterious(0.03)	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,missense_variant,p.Gln723Leu,ENST00000452168,;ITGA7,missense_variant,p.Gln816Leu,ENST00000257879,;ITGA7,missense_variant,p.Gln820Leu,ENST00000394230,;ITGA7,missense_variant,p.Gln860Leu,ENST00000555728,;ITGA7,missense_variant,p.Gln820Leu,ENST00000553804,;ITGA7,missense_variant,p.Gln860Leu,ENST00000257880,;ITGA7,missense_variant,p.Gln810Leu,ENST00000347027,;ITGA7,missense_variant,p.Gln816Leu,ENST00000394229,;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,3_prime_UTR_variant,,ENST00000554327,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,;ITGA7,downstream_gene_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,downstream_gene_variant,,ENST00000557058,;	2478	272	294	SUCCESS
ANKRD52	283373	.	GRCh37	12	56636966	56636966	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765088809	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	23	0	ENST00000267116.7:c.3191G>T	p.Arg1064Leu	p.R1064L	ENST00000267116	NM_173595.3	1064	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS44920.1	3191	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CGGGCCGCTCC	NONE	.	.	hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158	.	.	ENSP00000267116	.	28/28	.	.	.	.	.	.	.	.	rs765088809	28/28	PASS	ENST00000267116	Transcript	.	.	ENSG00000139645	26614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	deleterious_low_confidence(0.02)	.	ANR52_HUMAN	ANKRD52	HGNC	.	.	UPI0000237861	SNV	ANKRD52,missense_variant,p.Arg1064Leu,ENST00000267116,;ANKRD52,intron_variant,,ENST00000548241,;	3313	23	14	SUCCESS
SDR9C7	121214	.	GRCh37	12	57324233	57324233	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	11	126	1	ENST00000293502.1:c.337C>T	p.Leu113=	p.L113=	ENST00000293502	NM_148897.2	113	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8926.1	337	MUTECT|MUSE	.	GGGCAGGCCCA	NONE	.	.	hmmpanther:PTHR24316:SF276,hmmpanther:PTHR24316,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735	.	.	ENSP00000293502	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000293502	Transcript	.	.	ENSG00000170426	29958	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DR9C7_HUMAN	SDR9C7	HGNC	.	.	UPI0000046169	SNV	SDR9C7,synonymous_variant,p.%3D,ENST00000293502,;	481	127	172	SUCCESS
SLC6A15	55117	.	GRCh37	12	85279337	85279337	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	109	0	ENST00000266682.5:c.451T>C	p.Cys151Arg	p.C151R	ENST00000266682	NM_182767.5	151	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS9026.1	451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCACACCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000266682	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.882)	.	deleterious(0)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Cys44Arg,ENST00000552192,;SLC6A15,missense_variant,p.Cys151Arg,ENST00000450363,;SLC6A15,missense_variant,p.Cys151Arg,ENST00000266682,;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000547240,;SLC6A15,intron_variant,,ENST00000551388,;	993	109	121	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85449747	85449747	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774094657	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	25	0	ENST00000393217.2:c.1176A>T	p.Gln392His	p.Q392H	ENST00000393217	NM_001079910.1	392	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS41816.1	1176	MUTECT|MUSE|VARSCANS	.	AGCCAACAGCT	NONE	.	.	.	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	rs774094657	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.05)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Gln392His,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	1237	25	40	SUCCESS
NTS	4922	.	GRCh37	12	86276027	86276027	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	88	0	ENST00000256010.6:c.387T>A	p.Thr129=	p.T129=	ENST00000256010	NM_006183.4	129	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9029.1	387	MUTECT|MUSE|VARSCANS	.	GATACTGGAAA	NONE	.	.	Prints_domain:PR01668,Pfam_domain:PF07421,hmmpanther:PTHR15356:SF0,hmmpanther:PTHR15356	.	.	ENSP00000256010	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000256010	Transcript	.	.	ENSG00000133636	8038	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEUT_HUMAN	NTS	HGNC	Q86U50_HUMAN,Q6FH20_HUMAN	.	UPI0000000CAD	SNV	NTS,synonymous_variant,p.%3D,ENST00000256010,;NTS,synonymous_variant,p.%3D,ENST00000551529,;NTS,non_coding_transcript_exon_variant,,ENST00000550879,;	494	88	100	SUCCESS
KITLG	4254	.	GRCh37	12	88900157	88900157	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	rs768146588	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	8	73	0	ENST00000228280.5:c.715-2A>T		p.X239_splice	ENST00000228280	NM_000899.4	239		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31868.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTGGAAA	NONE	byFrequency	.	.	.	.	ENSP00000228280	.	.	.	.	.	.	.	.	.	.	rs768146588	.	PASS	ENST00000228280	Transcript	.	.	ENSG00000049130	6343	.	.	HIGH	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCF_HUMAN	KITLG	HGNC	S4R442_HUMAN,S4R384_HUMAN	.	UPI000002D482	SNV	KITLG,splice_acceptor_variant,,ENST00000228280,;KITLG,splice_acceptor_variant,,ENST00000357116,;KITLG,splice_acceptor_variant,,ENST00000347404,;KITLG,splice_acceptor_variant,,ENST00000378535,;	.	73	86	SUCCESS
NR2C1	7181	.	GRCh37	12	95452114	95452114	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	34	0	ENST00000333003.5:c.516A>T	p.Arg172Ser	p.R172S	ENST00000333003	NM_003297.3	172	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9051.1	516	RADIA|MUTECT|MUSE|VARSCANS	.	ATACATCTCTG	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49,Pfam_domain:PF00105,Gene3D:1.10.565.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000333275	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000333003	Transcript	.	.	ENSG00000120798	7971	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.699)	.	tolerated(0.06)	.	NR2C1_HUMAN	NR2C1	HGNC	H9NIM2_HUMAN	.	UPI00001AE7E6	SNV	NR2C1,missense_variant,p.Arg172Ser,ENST00000393101,;NR2C1,missense_variant,p.Arg172Ser,ENST00000333003,;NR2C1,missense_variant,p.Arg172Ser,ENST00000330677,;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,intron_variant,,ENST00000548252,;NR2C1,downstream_gene_variant,,ENST00000552417,;NR2C1,downstream_gene_variant,,ENST00000551386,;NR2C1,downstream_gene_variant,,ENST00000546367,;NR2C1,upstream_gene_variant,,ENST00000547594,;NR2C1,downstream_gene_variant,,ENST00000548966,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;	847	34	43	SUCCESS
C12orf55	0	.	GRCh37	12	97045523	97045523	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	47	136	0	ENST00000524981.4:c.5030T>C	p.Leu1677Ser	p.L1677S	ENST00000524981		1677	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	.	5030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTACCAT	BUFFER|p.V101V|c.303T>C|3	.	.	.	.	.	ENSP00000431759	.	36/68	.	.	.	.	.	.	.	.	.	36/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Leu1677Ser,ENST00000524981,;C12orf55,downstream_gene_variant,,ENST00000550977,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	5053	136	147	SUCCESS
MCF2L	23263	.	GRCh37	13	113699017	113699017	+	intron_variant	Intron	SNP	G	G	T	rs372502763	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	53	129	0	ENST00000375608.3:c.369-568G>T		p.*123*	ENST00000375608				0	A:0	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS45070.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGCGCAAGT	NONE	byCluster|by1000G	.	.	A:0	A:0.0003	ENSP00000440374	A:0	.	.	.	.	.	.	.	.	.	rs372502763	.	PASS	ENST00000535094	Transcript	.	A:0.0002	ENSG00000126217	14576	.	.	MODIFIER	3/29	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,5_prime_UTR_variant,,ENST00000397021,;MCF2L,intron_variant,,ENST00000423482,;MCF2L,intron_variant,,ENST00000409954,;MCF2L,intron_variant,,ENST00000375597,;MCF2L,intron_variant,,ENST00000375608,;MCF2L,intron_variant,,ENST00000535094,;MCF2L,intron_variant,,ENST00000434480,;MCF2L,intron_variant,,ENST00000442652,;MCF2L,intron_variant,,ENST00000397030,;MCF2L,intron_variant,,ENST00000375601,;MCF2L,intron_variant,,ENST00000473345,;MCF2L,intron_variant,,ENST00000421756,;MCF2L,intron_variant,,ENST00000375604,;MCF2L,upstream_gene_variant,,ENST00000423251,;MCF2L,non_coding_transcript_exon_variant,,ENST00000480321,;MCF2L,non_coding_transcript_exon_variant,,ENST00000469558,;MCF2L,non_coding_transcript_exon_variant,,ENST00000494043,;	.	129	146	SUCCESS
MCF2L	23263	.	GRCh37	13	113730402	113730402	+	synonymous_variant	Silent	SNP	G	G	A	rs141497667	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	52	186	0	ENST00000375608.3:c.1521G>A	p.Ala507=	p.A507=	ENST00000375608		507	gcG/gcA	0	A:0.0018	A:0.0023	.	A:0	.	A	A	protein_coding	YES	CCDS45070.2	1431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGGAAAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115	A:0	A:0.0001	ENSP00000440374	A:0	12/30	.	.	.	.	.	.	.	.	rs141497667	12/30	PASS	ENST00000535094	Transcript	.	A:0.0006	ENSG00000126217	14576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,synonymous_variant,p.%3D,ENST00000434480,;MCF2L,synonymous_variant,p.%3D,ENST00000423482,;MCF2L,synonymous_variant,p.%3D,ENST00000442652,;MCF2L,synonymous_variant,p.%3D,ENST00000375597,;MCF2L,synonymous_variant,p.%3D,ENST00000397030,;MCF2L,synonymous_variant,p.%3D,ENST00000397017,;MCF2L,synonymous_variant,p.%3D,ENST00000375601,;MCF2L,synonymous_variant,p.%3D,ENST00000375608,;MCF2L,synonymous_variant,p.%3D,ENST00000535094,;MCF2L,synonymous_variant,p.%3D,ENST00000421756,;MCF2L,synonymous_variant,p.%3D,ENST00000375604,;MCF2L,downstream_gene_variant,,ENST00000475524,;	1590	186	188	SUCCESS
FHP1	100873790	.	GRCh37	13	42830541	42830541	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	11	107	0	ENST00000442741.1:n.533A>T		p.*178*	ENST00000442741				0	.	.	.	.	.	T	.	processed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGCAAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000442741	Transcript	.	.	ENSG00000234213	39442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FHP1	HGNC	.	.	.	SNV	DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;FHP1,non_coding_transcript_exon_variant,,ENST00000442741,;	533	107	90	SUCCESS
SLITRK5	26050	.	GRCh37	13	88330413	88330413	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	79	0	ENST00000325089.6:c.2770T>A	p.Phe924Ile	p.F924I	ENST00000325089	NM_015567.1	924	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS9465.1	2770	MUTECT|MUSE	.	CTGTCTTTGTA	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	deleterious(0.01)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Phe924Ile,ENST00000325089,;SLITRK5,missense_variant,p.Phe683Ile,ENST00000400028,;	2989	79	82	SUCCESS
SLITRK5	26050	.	GRCh37	13	88330414	88330414	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	5	78	0	ENST00000325089.6:c.2771T>A	p.Phe924Tyr	p.F924Y	ENST00000325089	NM_015567.1	924	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS9465.1	2771	MUTECT|MUSE	.	TGTCTTTGTAG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Phe924Tyr,ENST00000325089,;SLITRK5,missense_variant,p.Phe683Tyr,ENST00000400028,;	2990	78	82	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36154285	36154285	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	72	0	ENST00000389698.3:c.2626A>G	p.Asn876Asp	p.N876D	ENST00000389698	NM_014990.1	876	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS32064.1	2626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTTAGAA	NONE	.	.	hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063	.	.	ENSP00000302647	.	19/40	.	.	.	.	.	.	.	.	.	19/40	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.37)	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,missense_variant,p.Asn876Asp,ENST00000389698,;RALGAPA1,missense_variant,p.Asn923Asp,ENST00000553892,;RALGAPA1,missense_variant,p.Asn923Asp,ENST00000258840,;RALGAPA1,missense_variant,p.Asn889Asp,ENST00000382366,;RALGAPA1,missense_variant,p.Asn876Asp,ENST00000307138,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,downstream_gene_variant,,ENST00000553917,;RALGAPA1,upstream_gene_variant,,ENST00000557638,;RALGAPA1,downstream_gene_variant,,ENST00000556839,;	3095	72	51	SUCCESS
PLEKHG3	26030	.	GRCh37	14	65208056	65208056	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761156943	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	43	106	0	ENST00000394691.1:c.1821G>T	p.Glu607Asp	p.E607D	ENST00000394691		607	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS32098.1	1653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGAGCGATT	NONE	byFrequency	.	hmmpanther:PTHR22143:SF4,hmmpanther:PTHR22143	.	.	ENSP00000247226	.	14/15	.	.	.	.	.	.	.	.	rs761156943	14/15	PASS	ENST00000247226	Transcript	.	.	ENSG00000126822	20364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	deleterious(0.02)	.	PKHG3_HUMAN	PLEKHG3	HGNC	G3V311_HUMAN	.	UPI0000407D62	SNV	PLEKHG3,missense_variant,p.Glu551Asp,ENST00000247226,;PLEKHG3,missense_variant,p.Glu140Asp,ENST00000471182,;PLEKHG3,missense_variant,p.Glu112Asp,ENST00000484731,;PLEKHG3,missense_variant,p.Glu607Asp,ENST00000394691,;SPTB,downstream_gene_variant,,ENST00000389722,;PLEKHG3,upstream_gene_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	1961	107	76	SUCCESS
BTBD7	55727	.	GRCh37	14	93714872	93714872	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1198567556	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	87	0	ENST00000334746.5:c.2071C>T	p.Arg691Ter	p.R691*	ENST00000334746	NM_001002860.2	691	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS32146.1	2071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCGAATCT	SITE|p.R691*|c.2071C>T|5	.	.	hmmpanther:PTHR16064	.	.	ENSP00000335615	.	9/11	.	.	.	.	.	.	.	.	COSM279216	9/11	PASS	ENST00000334746	Transcript	.	.	ENSG00000011114	18269	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BTBD7_HUMAN	BTBD7	HGNC	G3V2J4_HUMAN	.	UPI00001FDA78	SNV	BTBD7,stop_gained,p.Arg265Ter,ENST00000393170,;BTBD7,stop_gained,p.Arg306Ter,ENST00000553975,;BTBD7,stop_gained,p.Arg691Ter,ENST00000334746,;BTBD7,stop_gained,p.Arg340Ter,ENST00000554565,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;RP11-85G20.2,downstream_gene_variant,,ENST00000492041,;	2379	87	80	SUCCESS
TRPM1	4308	.	GRCh37	15	31325077	31325077	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	9	227	0	ENST00000397795.2:c.2701A>T	p.Ile901Phe	p.I901F	ENST00000397795	NM_002420.5	901	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS58347.1	2818	MUTECT|MUSE	.	TGTGATGTTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13,Pfam_domain:PF00520	.	.	ENSP00000437849	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.522)	.	tolerated(0.12)	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,missense_variant,p.Ile901Phe,ENST00000558445,;TRPM1,missense_variant,p.Ile940Phe,ENST00000542188,;TRPM1,missense_variant,p.Ile825Phe,ENST00000558768,;TRPM1,missense_variant,p.Ile923Phe,ENST00000256552,;TRPM1,missense_variant,p.Ile901Phe,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000558755,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,non_coding_transcript_exon_variant,,ENST00000557948,;TRPM1,upstream_gene_variant,,ENST00000558212,;	3132	227	212	SUCCESS
RASGRP1	10125	.	GRCh37	15	38818572	38818572	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	79	0	ENST00000310803.5:c.254T>A	p.Leu85Gln	p.L85Q	ENST00000310803	NM_005739.3	85	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS45222.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACAGTTGG	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF174,Pfam_domain:PF00618,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000310244	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000310803	Transcript	1	.	ENSG00000172575	9878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious(0.01)	.	GRP1_HUMAN	RASGRP1	HGNC	H0YNG8_HUMAN,H0YN83_HUMAN,H0YKP8_HUMAN,F5H514_HUMAN	.	UPI000006FE1C	SNV	RASGRP1,missense_variant,p.Leu85Gln,ENST00000450598,;RASGRP1,missense_variant,p.Leu99Gln,ENST00000558432,;RASGRP1,missense_variant,p.Leu85Gln,ENST00000310803,;RASGRP1,missense_variant,p.Leu136Gln,ENST00000561180,;RASGRP1,missense_variant,p.Leu37Gln,ENST00000561117,;RASGRP1,missense_variant,p.Leu85Gln,ENST00000558164,;RASGRP1,missense_variant,p.Leu37Gln,ENST00000539159,;RASGRP1,missense_variant,p.Leu37Gln,ENST00000558418,;RASGRP1,missense_variant,p.Leu85Gln,ENST00000559830,;RASGRP1,downstream_gene_variant,,ENST00000560929,;RP11-275I4.1,intron_variant,,ENST00000559544,;RASGRP1,missense_variant,p.Leu85Gln,ENST00000414708,;	432	79	90	SUCCESS
GPR176	11245	.	GRCh37	15	40094295	40094295	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	21	190	0	ENST00000561100.1:c.586T>A	p.Trp196Arg	p.W196R	ENST00000561100	NM_007223.2	196	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS10051.1	586	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAGACTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22752:SF1,hmmpanther:PTHR22752,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000453076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000561100	Transcript	.	.	ENSG00000166073	32370	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.188)	.	tolerated(0.1)	.	GP176_HUMAN	GPR176	HGNC	H9NIL9_HUMAN	.	UPI0000041346	SNV	GPR176,missense_variant,p.Trp151Arg,ENST00000543580,;GPR176,missense_variant,p.Trp196Arg,ENST00000561100,;GPR176,missense_variant,p.Trp195Arg,ENST00000299092,;GPR176,non_coding_transcript_exon_variant,,ENST00000558041,;GPR176,non_coding_transcript_exon_variant,,ENST00000560729,;RP11-37C7.1,upstream_gene_variant,,ENST00000558616,;	1452	191	219	SUCCESS
KNSTRN	90417	.	GRCh37	15	40675114	40675114	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	8	87	0	ENST00000249776.8:c.78A>T	p.Pro26=	p.P26=	ENST00000249776	NM_033286.3	26	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42021.1	78	MUTECT|MUSE|VARSCANS	.	CACCCACTTCC	BUFFER|p.S24F|c.71C>T|8,BUFFER|p.S24F|c.71C>T|7	.	.	hmmpanther:PTHR31940,hmmpanther:PTHR31940:SF2	.	.	ENSP00000249776	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000249776	Transcript	.	.	ENSG00000128944	30767	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SKAP_HUMAN	KNSTRN	HGNC	.	.	UPI000016074A	SNV	KNSTRN,synonymous_variant,p.%3D,ENST00000448395,;KNSTRN,synonymous_variant,p.%3D,ENST00000416151,;KNSTRN,synonymous_variant,p.%3D,ENST00000249776,;KNSTRN,upstream_gene_variant,,ENST00000608100,;KNSTRN,upstream_gene_variant,,ENST00000557920,;KNSTRN,synonymous_variant,p.%3D,ENST00000560981,;KNSTRN,non_coding_transcript_exon_variant,,ENST00000559604,;KNSTRN,upstream_gene_variant,,ENST00000560220,;KNSTRN,upstream_gene_variant,,ENST00000560321,;KNSTRN,upstream_gene_variant,,ENST00000559083,;KNSTRN,upstream_gene_variant,,ENST00000559591,;KNSTRN,upstream_gene_variant,,ENST00000560673,;KNSTRN,upstream_gene_variant,,ENST00000559304,;KNSTRN,upstream_gene_variant,,ENST00000561196,;KNSTRN,upstream_gene_variant,,ENST00000561169,;	193	87	97	SUCCESS
TGM7	116179	.	GRCh37	15	43571320	43571320	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs934035706	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	82	0	ENST00000452443.2:c.1834A>G	p.Ile612Val	p.I612V	ENST00000452443	NM_052955.2	612	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32213.1	1834	MUTECT|MUSE	.	CTCAATAGACA	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Pfam_domain:PF00927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000389466	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000452443	Transcript	.	.	ENSG00000159495	30790	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.032)	.	deleterious(0.02)	.	TGM7_HUMAN	TGM7	HGNC	.	.	UPI0000049F68	SNV	TGM7,missense_variant,p.Ile612Val,ENST00000452443,;TGM7,upstream_gene_variant,,ENST00000562372,;	1839	82	102	SUCCESS
SEMA6D	80031	.	GRCh37	15	48058775	48058775	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	77	158	1	ENST00000316364.5:c.1647-38C>A		p.*549*	ENST00000316364	NM_153618.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32225.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCTGTTA	NONE	.	.	.	.	.	ENSP00000324857	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODIFIER	15/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Leu550Met,ENST00000389432,;SEMA6D,missense_variant,p.Leu2Met,ENST00000559064,;SEMA6D,missense_variant,p.Leu550Met,ENST00000537942,;SEMA6D,missense_variant,p.Leu550Met,ENST00000358066,;SEMA6D,missense_variant,p.Leu550Met,ENST00000558014,;SEMA6D,intron_variant,,ENST00000354744,;SEMA6D,intron_variant,,ENST00000389428,;SEMA6D,intron_variant,,ENST00000355997,;SEMA6D,intron_variant,,ENST00000536845,;SEMA6D,intron_variant,,ENST00000389433,;SEMA6D,intron_variant,,ENST00000558816,;SEMA6D,intron_variant,,ENST00000316364,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000389425,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,intron_variant,,ENST00000558431,;	.	159	180	SUCCESS
USP8	9101	.	GRCh37	15	50782610	50782610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	38	125	0	ENST00000307179.4:c.2122A>G	p.Arg708Gly	p.R708G	ENST00000307179		708	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS10137.1	2122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATAGGGAA	NONE	.	.	hmmpanther:PTHR24006:SF350,hmmpanther:PTHR24006	.	.	ENSP00000405537	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000433963	Transcript	1	.	ENSG00000138592	12631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	deleterious(0.01)	.	UBP8_HUMAN	USP8	HGNC	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN	.	UPI0000030306	SNV	USP8,missense_variant,p.Arg708Gly,ENST00000307179,;USP8,missense_variant,p.Arg708Gly,ENST00000396444,;USP8,missense_variant,p.Arg708Gly,ENST00000433963,;USP8,missense_variant,p.Arg602Gly,ENST00000425032,;RP11-562A8.5,downstream_gene_variant,,ENST00000560159,;USP8,non_coding_transcript_exon_variant,,ENST00000561206,;USP8,upstream_gene_variant,,ENST00000419830,;	2622	125	132	SUCCESS
AP4E1	23431	.	GRCh37	15	51285722	51285722	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	7	66	0	ENST00000261842.5:c.2246A>T	p.Asp749Val	p.D749V	ENST00000261842	NM_001252127.1	749	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS32240.1	2246	MUTECT|MUSE|VARSCANS	.	AAAGGATCAAT	NONE	.	.	hmmpanther:PTHR22780:SF13,hmmpanther:PTHR22780,PIRSF_domain:PIRSF037097	.	.	ENSP00000261842	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000261842	Transcript	1	.	ENSG00000081014	573	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.066)	.	deleterious(0.03)	.	AP4E1_HUMAN	AP4E1	HGNC	.	.	UPI00001D89D8	SNV	AP4E1,missense_variant,p.Asp749Val,ENST00000261842,;AP4E1,missense_variant,p.Asp674Val,ENST00000560508,;AP4E1,upstream_gene_variant,,ENST00000561397,;AP4E1,3_prime_UTR_variant,,ENST00000558439,;AP4E1,3_prime_UTR_variant,,ENST00000561393,;	2352	66	84	SUCCESS
LMAN1L	79748	.	GRCh37	15	75115899	75115899	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs752683861	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	69	0	ENST00000309664.5:c.1200-1G>T		p.X400_splice	ENST00000309664	NM_021819.2	400		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10270.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTAGGGATG	NONE	byFrequency	.	.	.	.	ENSP00000310431	.	.	.	.	.	.	.	.	.	.	rs752683861	.	PASS	ENST00000309664	Transcript	.	.	ENSG00000140506	6632	.	.	HIGH	11/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMA1L_HUMAN	LMAN1L	HGNC	.	.	UPI00001AEF1F	SNV	LMAN1L,splice_acceptor_variant,,ENST00000379709,;LMAN1L,splice_acceptor_variant,,ENST00000309664,;LMAN1L,intron_variant,,ENST00000567848,;CPLX3,upstream_gene_variant,,ENST00000395018,;RP11-414J4.2,splice_acceptor_variant,,ENST00000488000,;LMAN1L,splice_acceptor_variant,,ENST00000565585,;RP11-414J4.2,splice_acceptor_variant,,ENST00000564823,;LMAN1L,downstream_gene_variant,,ENST00000456603,;LMAN1L,upstream_gene_variant,,ENST00000566046,;LMAN1L,downstream_gene_variant,,ENST00000470711,;	.	69	43	SUCCESS
LINGO1	84894	.	GRCh37	15	77907675	77907675	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	53	126	0	ENST00000355300.6:c.574A>C	p.Ser192Arg	p.S192R	ENST00000355300	NM_032808.5	192	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS45313.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTGTTGA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,Pfam_domain:PF00560,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000347451	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355300	Transcript	.	.	ENSG00000169783	21205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	tolerated(0.14)	.	LIGO1_HUMAN	LINGO1	HGNC	H3BQ49_HUMAN,H3BN48_HUMAN,H3BMW2_HUMAN,H3BMN3_HUMAN,H3BM59_HUMAN,H0YNK7_HUMAN	.	UPI00000377A0	SNV	LINGO1,missense_variant,p.Ser192Arg,ENST00000355300,;LINGO1,missense_variant,p.Ser186Arg,ENST00000561030,;LINGO1,missense_variant,p.Ser197Arg,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000564472,;	749	126	128	SUCCESS
ALPK3	57538	.	GRCh37	15	85401062	85401062	+	synonymous_variant	Silent	SNP	G	G	T	rs752722020	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	27	0	ENST00000258888.5:c.3699G>T	p.Leu1233=	p.L1233=	ENST00000258888	NM_020778.4	1233	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10333.1	3699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCTGAG	NONE	byFrequency	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21	.	.	ENSP00000258888	.	6/14	.	.	.	.	.	.	.	.	rs752722020	6/14	PASS	ENST00000258888	Transcript	.	.	ENSG00000136383	17574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALPK3_HUMAN	ALPK3	HGNC	.	.	UPI000013D013	SNV	ALPK3,synonymous_variant,p.%3D,ENST00000258888,;	3866	27	24	SUCCESS
TPSD1	23430	.	GRCh37	16	1308140	1308140	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	10	196	0	ENST00000211076.3:c.601A>T	p.Thr201Ser	p.T201S	ENST00000211076	NM_012217.2	201	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS10432.1	601	MUTECT|MUSE	.	ATCACACCGGC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF96,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000211076	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000211076	Transcript	.	.	ENSG00000095917	14118	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.05)	.	tolerated(0.47)	.	TRYD_HUMAN	TPSD1	HGNC	.	.	UPI000007066B	SNV	TPSD1,missense_variant,p.Thr201Ser,ENST00000211076,;TPSD1,missense_variant,p.Thr194Ser,ENST00000397534,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;RP11-616M22.5,downstream_gene_variant,,ENST00000566997,;	749	196	220	SUCCESS
CLCN7	1186	.	GRCh37	16	1510832	1510832	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	10	139	0	ENST00000382745.4:c.469A>T	p.Arg157Trp	p.R157W	ENST00000382745	NM_001287.5	157	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS32361.1	469	MUTECT|MUSE|VARSCANS	.	GACCCTGTACT	NONE	.	.	hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689,Gene3D:1otsB00,Superfamily_domains:SSF81340,Prints_domain:PR01118	.	.	ENSP00000372193	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000382745	Transcript	.	.	ENSG00000103249	2025	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.325)	.	deleterious(0.01)	.	CLCN7_HUMAN	CLCN7	HGNC	Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN	.	UPI000004904C	SNV	CLCN7,missense_variant,p.Arg133Trp,ENST00000448525,;CLCN7,missense_variant,p.Arg133Trp,ENST00000262318,;CLCN7,missense_variant,p.Arg99Trp,ENST00000569851,;CLCN7,missense_variant,p.Arg157Trp,ENST00000382745,;CLCN7,downstream_gene_variant,,ENST00000564568,;CLCN7,non_coding_transcript_exon_variant,,ENST00000561665,;CLCN7,non_coding_transcript_exon_variant,,ENST00000567139,;CLCN7,upstream_gene_variant,,ENST00000563822,;CLCN7,upstream_gene_variant,,ENST00000564968,;	1075	139	121	SUCCESS
VWA3A	146177	.	GRCh37	16	22126671	22126671	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	34	105	0	ENST00000389398.5:c.693C>T	p.Leu231=	p.L231=	ENST00000389398	NM_173615.3	231	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45441.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCAGGA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Pfam_domain:PF13768,Superfamily_domains:SSF53300	.	.	ENSP00000374049	.	9/34	.	.	.	.	.	.	.	.	.	9/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,synonymous_variant,p.%3D,ENST00000568328,;VWA3A,synonymous_variant,p.%3D,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,downstream_gene_variant,,ENST00000567131,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;VWA3A,downstream_gene_variant,,ENST00000562340,;	789	105	161	SUCCESS
PGP	283871	.	GRCh37	16	2263817	2263817	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	228	14	182	0	ENST00000333503.7:c.878A>T	p.Gln293Leu	p.Q293L	ENST00000333503	NM_001042371.2	293	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42104.1	878	MUTECT|MUSE	.	TTTCCTGATTA	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF37,Gene3D:3.40.50.1000,Pfam_domain:PF13242,TIGRFAM_domain:TIGR01452,PIRSF_domain:PIRSF000915,Superfamily_domains:SSF56784	.	.	ENSP00000330918	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000333503	Transcript	.	.	ENSG00000184207	8909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.17)	.	PGP_HUMAN	PGP	HGNC	.	.	UPI00000473F8	SNV	PGP,missense_variant,p.Gln293Leu,ENST00000333503,;MLST8,downstream_gene_variant,,ENST00000397124,;MLST8,downstream_gene_variant,,ENST00000301725,;MLST8,downstream_gene_variant,,ENST00000564088,;MLST8,downstream_gene_variant,,ENST00000301724,;BRICD5,upstream_gene_variant,,ENST00000566018,;MLST8,downstream_gene_variant,,ENST00000569417,;MLST8,downstream_gene_variant,,ENST00000565250,;BRICD5,upstream_gene_variant,,ENST00000328540,;MLST8,downstream_gene_variant,,ENST00000382450,;BRICD5,upstream_gene_variant,,ENST00000562360,;RP11-304L19.8,downstream_gene_variant,,ENST00000561544,;PGP,missense_variant,p.Gln29Leu,ENST00000562001,;MLST8,downstream_gene_variant,,ENST00000566835,;BRICD5,upstream_gene_variant,,ENST00000566795,;MLST8,downstream_gene_variant,,ENST00000568194,;MLST8,downstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000565330,;MLST8,downstream_gene_variant,,ENST00000568542,;MLST8,downstream_gene_variant,,ENST00000563067,;	908	182	242	SUCCESS
ZNF629	23361	.	GRCh37	16	30793613	30793613	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs200655215	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	11	116	0	ENST00000262525.4:c.2036A>T	p.Gln679Leu	p.Q679L	ENST00000262525	NM_001080417.1	679	cAg/cTg	0	.	C:0	.	C:0.0014	.	A	Q/L	protein_coding	YES	CCDS45463.1	2036	MUTECT|MUSE	.	GATGCTGGAGG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF286,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	C:0	.	ENSP00000262525	C:0	3/3	.	.	.	.	.	.	.	.	rs200655215	3/3	PASS	ENST00000262525	Transcript	.	C:0.0002	ENSG00000102870	29008	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.947)	C:0	tolerated(0.11)	.	ZN629_HUMAN	ZNF629	HGNC	.	.	UPI00001C1FA5	SNV	ZNF629,missense_variant,p.Gln679Leu,ENST00000262525,;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	2244	116	161	SUCCESS
NIP7	51388	.	GRCh37	16	69375171	69375171	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	65	180	0	ENST00000254940.5:c.371A>G	p.Asn124Ser	p.N124S	ENST00000254940	NM_016101.4	124	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS10877.1	371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAATACTT	NONE	.	.	PROSITE_profiles:PS50890,hmmpanther:PTHR23415,hmmpanther:PTHR23415:SF4,Gene3D:2.30.130.10,Pfam_domain:PF03657,PIRSF_domain:PIRSF017190,SMART_domains:SM00359,Superfamily_domains:SSF88697	.	.	ENSP00000254940	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000254940	Transcript	.	.	ENSG00000132603	24328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.2)	.	NIP7_HUMAN	NIP7	HGNC	.	.	UPI000006FFF0	SNV	NIP7,missense_variant,p.Asn49Ser,ENST00000562523,;NIP7,missense_variant,p.Asn124Ser,ENST00000254940,;NIP7,missense_variant,p.Asn51Ser,ENST00000567202,;NIP7,intron_variant,,ENST00000254941,;RP11-343C2.9,intron_variant,,ENST00000563634,;COG8,upstream_gene_variant,,ENST00000567493,;COG8,upstream_gene_variant,,ENST00000562595,;TMED6,downstream_gene_variant,,ENST00000288025,;NIP7,downstream_gene_variant,,ENST00000569637,;COG8,upstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000306875,;NIP7,non_coding_transcript_exon_variant,,ENST00000565034,;NIP7,non_coding_transcript_exon_variant,,ENST00000563364,;RP11-343C2.7,intron_variant,,ENST00000570293,;RP11-343C2.7,intron_variant,,ENST00000564737,;NIP7,downstream_gene_variant,,ENST00000562131,;TMED6,downstream_gene_variant,,ENST00000568748,;	771	180	121	SUCCESS
PKD1L3	342372	.	GRCh37	16	71963964	71963967	+	non_coding_transcript_exon_variant	RNA	DEL	CTTT	CTTT	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	CTTT	CTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	36	37	113	0	ENST00000534738.1:n.5042_5045del		p.*1681*	ENST00000534738				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS59271.1	.	INDELOCATOR|VARSCANI	.	AAGCGACTTTCTTTC	NONE	.	2088	.	.	.	ENSP00000438399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535424	Transcript	.	.	ENSG00000182149	28977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IST1_HUMAN	IST1	HGNC	J3QLU7_HUMAN,H3BUI0_HUMAN,H3BRE2_HUMAN,H3BQF7_HUMAN,H3BQ38_HUMAN,H3BPP6_HUMAN,H3BMU1_HUMAN,B4DXC9_HUMAN,B4DLP1_HUMAN	.	UPI00001FF5EB	deletion	IST1,downstream_gene_variant,,ENST00000538850,;IST1,downstream_gene_variant,,ENST00000378799,;IST1,downstream_gene_variant,,ENST00000541571,;IST1,downstream_gene_variant,,ENST00000544564,;IST1,downstream_gene_variant,,ENST00000456820,;IST1,downstream_gene_variant,,ENST00000606369,;IST1,downstream_gene_variant,,ENST00000535424,;IST1,downstream_gene_variant,,ENST00000378798,;IST1,downstream_gene_variant,,ENST00000329908,;RP11-498D10.6,non_coding_transcript_exon_variant,,ENST00000573861,;RP11-498D10.5,upstream_gene_variant,,ENST00000567146,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000534738,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000335106,;IST1,downstream_gene_variant,,ENST00000538565,;IST1,downstream_gene_variant,,ENST00000536027,;IST1,downstream_gene_variant,,ENST00000541180,;IST1,downstream_gene_variant,,ENST00000439924,;	.	113	74	SUCCESS
MYH8	4626	.	GRCh37	17	10317595	10317595	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	21	285	0	ENST00000403437.2:c.922A>T	p.Thr308Ser	p.T308S	ENST00000403437	NM_002472.2	308	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS11153.1	922	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTGGTGA	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000384330	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	.	tolerated(0.09)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Thr308Ser,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1017	285	217	SUCCESS
COPS3	8533	.	GRCh37	17	17179373	17179373	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	12	141	0	ENST00000268717.5:c.161A>T	p.His54Leu	p.H54L	ENST00000268717	NM_003653.3	54	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS11183.1	161	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTGTTCT	NONE	.	.	hmmpanther:PTHR10758	.	.	ENSP00000268717	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000268717	Transcript	.	.	ENSG00000141030	2239	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.884)	.	deleterious(0)	.	CSN3_HUMAN	COPS3	HGNC	J3QKR0_HUMAN	.	UPI0000073FD1	SNV	COPS3,missense_variant,p.His54Leu,ENST00000417352,;COPS3,missense_variant,p.His34Leu,ENST00000439936,;COPS3,missense_variant,p.His54Leu,ENST00000268717,;COPS3,missense_variant,p.His34Leu,ENST00000539941,;COPS3,missense_variant,p.His54Leu,ENST00000584216,;COPS3,missense_variant,p.His54Leu,ENST00000477299,;COPS3,3_prime_UTR_variant,,ENST00000492672,;COPS3,3_prime_UTR_variant,,ENST00000578317,;COPS3,non_coding_transcript_exon_variant,,ENST00000462236,;COPS3,non_coding_transcript_exon_variant,,ENST00000486810,;COPS3,intron_variant,,ENST00000577246,;COPS3,intron_variant,,ENST00000577210,;	268	141	109	SUCCESS
SUPT6H	6830	.	GRCh37	17	27017195	27017196	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	227	71	228	0	ENST00000314616.6:c.3440_3441del	p.Glu1147GlyfsTer35	p.E1147Gfs*35	ENST00000314616	NM_003170.3	1146	acAGag/acag	0	.	.	.	.	.	-	TE/TX	protein_coding	YES	CCDS32596.1	3438-3439	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACACAGAGGAG	NONE	.	.	PIRSF_domain:PIRSF036947,Pfam_domain:PF14878,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145	.	.	ENSP00000319104	.	26/37	.	.	.	.	.	.	.	.	.	26/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	deletion	SUPT6H,frameshift_variant,p.Glu1147GlyfsTer35,ENST00000314616,;SUPT6H,frameshift_variant,p.Glu1147GlyfsTer35,ENST00000347486,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000583972,;SUPT6H,downstream_gene_variant,,ENST00000585230,;SUPT6H,upstream_gene_variant,,ENST00000580471,;SUPT6H,downstream_gene_variant,,ENST00000581908,;	3721-3722	228	298	SUCCESS
CCR7	1236	.	GRCh37	17	38711882	38711882	+	synonymous_variant	Silent	SNP	A	A	G	rs753052328	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	19	141	0	ENST00000246657.2:c.249T>C	p.Tyr83=	p.Y83=	ENST00000246657	NM_001838.3	83	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS11369.1	249	RADIA|MUTECT|MUSE|VARSCANS	.	TAGATATAGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF29,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00657	.	.	ENSP00000246657	.	3/3	.	.	.	.	.	.	.	.	rs753052328	3/3	PASS	ENST00000246657	Transcript	.	.	ENSG00000126353	1608	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCR7_HUMAN	CCR7	HGNC	J3KTN5_HUMAN,J3KSS9_HUMAN,A0N0Q0_HUMAN	.	UPI0000001C2F	SNV	CCR7,synonymous_variant,p.%3D,ENST00000246657,;CCR7,synonymous_variant,p.%3D,ENST00000578085,;CCR7,synonymous_variant,p.%3D,ENST00000579344,;	312	141	160	SUCCESS
KRT40	125115	.	GRCh37	17	39135187	39135187	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	45	161	0	ENST00000377755.4:c.1065G>A	p.Glu355=	p.E355=	ENST00000377755		355	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS42320.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCTCCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Prints_domain:PR01248,Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF90,hmmpanther:PTHR23239	.	.	ENSP00000366984	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000377755	Transcript	.	.	ENSG00000204889	26707	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C40_HUMAN	KRT40	HGNC	.	.	UPI00003B288A	SNV	KRT40,synonymous_variant,p.%3D,ENST00000377755,;KRT40,synonymous_variant,p.%3D,ENST00000398486,;AC004231.2,downstream_gene_variant,,ENST00000418393,;KRT40,3_prime_UTR_variant,,ENST00000461923,;	1100	161	137	SUCCESS
KRT33B	3884	.	GRCh37	17	39521676	39521676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141441300	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	75	250	0	ENST00000251646.3:c.718C>T	p.Arg240Cys	p.R240C	ENST00000251646	NM_002279.4	240	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11389.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGGTTGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	.	.	ENSP00000251646	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000251646	Transcript	.	.	ENSG00000131738	6451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	deleterious(0.04)	.	KT33B_HUMAN	KRT33B	HGNC	.	.	UPI000012DAFE	SNV	KRT33B,missense_variant,p.Arg240Cys,ENST00000251646,;	768	250	230	SUCCESS
STAT3	6774	.	GRCh37	17	40474482	40474482	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs769031989	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	318	20	300	0	ENST00000264657.5:c.1919A>T	p.Tyr640Phe	p.Y640F	ENST00000264657	NM_139276.2	640	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32656.1	1919	MUTECT|MUSE	.	TTGTGTATGGT	SITE|p.Y640F|c.1919A>T|47	byFrequency	.	PROSITE_profiles:PS50001,hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Gene3D:3.30.505.10,Pfam_domain:PF00017,Superfamily_domains:SSF55550	.	.	ENSP00000264657	.	21/24	.	.	.	.	.	.	.	.	rs769031989,COSM1155743	21/24	PASS	ENST00000264657	Transcript	.	.	ENSG00000168610	11364	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.999)	.	tolerated(0.24)	0,1	STAT3_HUMAN	STAT3	HGNC	G8JLH9_HUMAN	.	UPI0000031047	SNV	STAT3,missense_variant,p.Tyr640Phe,ENST00000588969,;STAT3,missense_variant,p.Tyr640Phe,ENST00000585517,;STAT3,missense_variant,p.Tyr640Phe,ENST00000404395,;STAT3,missense_variant,p.Tyr542Phe,ENST00000389272,;STAT3,missense_variant,p.Tyr640Phe,ENST00000264657,;STAT3,downstream_gene_variant,,ENST00000471989,;STAT3,downstream_gene_variant,,ENST00000498330,;STAT3,upstream_gene_variant,,ENST00000462269,;	2232	300	338	SUCCESS
SLC25A39	51629	.	GRCh37	17	42398495	42398495	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	107	0	ENST00000377095.5:c.622G>A	p.Ala208Thr	p.A208T	ENST00000377095	NM_001143780.1	208	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45700.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCCACTG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF193,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000366299	.	8/12	.	.	.	.	.	.	.	.	COSM323378	8/12	PASS	ENST00000377095	Transcript	.	.	ENSG00000013306	24279	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.02)	.	tolerated(0.06)	1	S2539_HUMAN	SLC25A39	HGNC	K7EMW3_HUMAN,K7ELM7_HUMAN	.	UPI00001AE651	SNV	SLC25A39,missense_variant,p.Ala200Thr,ENST00000590194,;SLC25A39,missense_variant,p.Ala200Thr,ENST00000225308,;SLC25A39,missense_variant,p.Ala208Thr,ENST00000377095,;SLC25A39,missense_variant,p.Ala109Thr,ENST00000588767,;SLC25A39,missense_variant,p.Ala76Thr,ENST00000586016,;SLC25A39,missense_variant,p.Ala185Thr,ENST00000537904,;SLC25A39,downstream_gene_variant,,ENST00000586633,;SLC25A39,downstream_gene_variant,,ENST00000585636,;RUNDC3A,downstream_gene_variant,,ENST00000426726,;RUNDC3A,downstream_gene_variant,,ENST00000225441,;RUNDC3A,downstream_gene_variant,,ENST00000590941,;SLC25A39,downstream_gene_variant,,ENST00000588049,;SLC25A39,downstream_gene_variant,,ENST00000585523,;SLC25A39,downstream_gene_variant,,ENST00000592857,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000585695,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000591006,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000588315,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000592372,;SLC25A39,intron_variant,,ENST00000593166,;RUNDC3A,downstream_gene_variant,,ENST00000590834,;RUNDC3A,downstream_gene_variant,,ENST00000588564,;SLC25A39,downstream_gene_variant,,ENST00000591151,;RUNDC3A,downstream_gene_variant,,ENST00000587483,;	742	107	78	SUCCESS
CACNA1G	8913	.	GRCh37	17	48668930	48668930	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	111	0	ENST00000359106.5:c.2588A>G	p.Asp863Gly	p.D863G	ENST00000359106	NM_018896.4	863	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45730.1	2588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGACAACG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000352011	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,missense_variant,p.Asp863Gly,ENST00000502264,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000416767,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000358244,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000515165,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000514181,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000352832,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000360761,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000507336,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000354983,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000513689,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000507510,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000505165,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000514717,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000510366,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000429973,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000510115,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000442258,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000512389,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000514079,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000507896,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000515411,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000513964,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000359106,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000507609,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000503485,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000515765,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000511768,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000503436,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000503607,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000506406,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000504076,;CACNA1G,missense_variant,p.Asp863Gly,ENST00000511765,;	2588	111	82	SUCCESS
STXBP4	252983	.	GRCh37	17	53077023	53077023	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	7	112	0	ENST00000376352.2:c.318A>T	p.Ile106=	p.I106=	ENST00000376352	NM_178509.5	106	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11584.2	318	MUTECT|MUSE	.	TTCATAAGACA	NONE	.	.	hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16,SMART_domains:SM00228	.	.	ENSP00000365530	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000376352	Transcript	.	.	ENSG00000166263	19694	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STXB4_HUMAN	STXBP4	HGNC	.	.	UPI000050D3EE	SNV	STXBP4,synonymous_variant,p.%3D,ENST00000398391,;STXBP4,synonymous_variant,p.%3D,ENST00000405898,;STXBP4,synonymous_variant,p.%3D,ENST00000376352,;STXBP4,synonymous_variant,p.%3D,ENST00000299341,;STXBP4,synonymous_variant,p.%3D,ENST00000434978,;STXBP4,upstream_gene_variant,,ENST00000463234,;	525	112	133	SUCCESS
RNF43	54894	.	GRCh37	17	56435407	56435407	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772257677	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	102	0	ENST00000407977.2:c.1730A>T	p.Gln577Leu	p.Q577L	ENST00000407977		577	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11607.1	1730	RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTGGGGG	NONE	.	.	hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000463069	.	8/9	.	.	.	.	.	.	.	.	rs772257677	8/9	PASS	ENST00000584437	Transcript	.	.	ENSG00000108375	18505	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.04)	.	RNF43_HUMAN	RNF43	HGNC	.	.	UPI000022A469	SNV	RNF43,missense_variant,p.Gln577Leu,ENST00000407977,;RNF43,missense_variant,p.Gln577Leu,ENST00000584437,;RNF43,missense_variant,p.Gln536Leu,ENST00000583753,;RNF43,missense_variant,p.Gln536Leu,ENST00000500597,;RNF43,missense_variant,p.Gln450Leu,ENST00000581868,;RNF43,missense_variant,p.Gln450Leu,ENST00000577625,;RNF43,missense_variant,p.Gln577Leu,ENST00000577716,;SUPT4H1,upstream_gene_variant,,ENST00000580947,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,downstream_gene_variant,,ENST00000585236,;BZRAP1-AS1,downstream_gene_variant,,ENST00000579527,;BZRAP1-AS1,downstream_gene_variant,,ENST00000580022,;BZRAP1-AS1,downstream_gene_variant,,ENST00000579859,;BZRAP1-AS1,downstream_gene_variant,,ENST00000578025,;	3686	102	98	SUCCESS
BCAS3	54828	.	GRCh37	17	59155891	59155891	+	splice_donor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	42	129	0	ENST00000390652.5:c.2372+1G>A		p.X791_splice	ENST00000390652	NM_001099432.1	791		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGTAGGA	NONE	.	.	.	.	.	ENSP00000375067	.	.	.	.	.	.	.	.	.	.	COSM3520389,COSM3520390	.	PASS	ENST00000390652	Transcript	.	.	ENSG00000141376	14347	.	.	HIGH	22/24	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	BCAS3_HUMAN	BCAS3	HGNC	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN	.	UPI00001AE949	SNV	BCAS3,splice_donor_variant,,ENST00000589222,;BCAS3,splice_donor_variant,,ENST00000408905,;BCAS3,splice_donor_variant,,ENST00000587002,;BCAS3,splice_donor_variant,,ENST00000588462,;BCAS3,splice_donor_variant,,ENST00000390652,;BCAS3,splice_donor_variant,,ENST00000585744,;BCAS3,splice_donor_variant,,ENST00000407086,;BCAS3,splice_donor_variant,,ENST00000588874,;BCAS3,splice_donor_variant,,ENST00000585979,;BCAS3,downstream_gene_variant,,ENST00000592827,;	.	129	142	SUCCESS
BPTF	2186	.	GRCh37	17	65920668	65920668	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	95	231	0	ENST00000321892.4:c.6092A>G	p.Glu2031Gly	p.E2031G	ENST00000321892		2031	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS11673.1	5714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGAGAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Glu1905Gly,ENST00000306378,;BPTF,missense_variant,p.Glu2031Gly,ENST00000321892,;BPTF,missense_variant,p.Glu1968Gly,ENST00000544778,;BPTF,missense_variant,p.Glu2031Gly,ENST00000335221,;BPTF,missense_variant,p.Glu68Gly,ENST00000582467,;BPTF,missense_variant,p.Glu1892Gly,ENST00000424123,;	5774	231	262	SUCCESS
KIF19	124602	.	GRCh37	17	72349367	72349367	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	78	181	0	ENST00000389916.4:c.2147G>T	p.Gly716Val	p.G716V	ENST00000389916	NM_153209.3	716	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32718.2	2147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGGGCCT	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402	.	.	ENSP00000374566	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.49)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Gly716Val,ENST00000389916,;AC103809.2,upstream_gene_variant,,ENST00000599136,;BTBD17,downstream_gene_variant,,ENST00000375366,;KIF19,downstream_gene_variant,,ENST00000551294,;KIF19,downstream_gene_variant,,ENST00000549637,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000547389,;	2285	181	169	SUCCESS
TP53	7157	.	GRCh37	17	7578190	7578190	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121912666	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	65	189	0	ENST00000269305.4:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000269305	NM_001126112.2	220	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11118.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GCTCATAGGGC	SITE|p.Y220C|c.659A>G|264,SITE|p.Y220C|c.659A>G|63,SITE|p.Y127C|c.380A>G|63,SITE|p.Y220C|c.659A>G|25,SITE|p.Y220C|c.659A>G|61,SITE|p.Y220C|c.659A>G|33,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y220*|c.660T>G|3,CODON|p.Y220S|c.659A>C|4,CODON|p.Y127S|c.380A>C|4,CODON|p.Y220S|c.659A>C|3,CODON|p.Y220S|c.659A>C|3,CODON|p.Y220S|c.659A>C|4,CODON|p.Y220S|c.659A>C|13,BUFFER|p.E224K|c.670G>A|4,BUFFER|p.E224*|c.670G>T|5,BUFFER|p.P223L|c.668C>T|3,BUFFER|p.P222P|c.666G>C|3,BUFFER|p.P222L|c.665C>T|4,BUFFER|p.P222T|c.664C>A|3,BUFFER|p.E221G|c.662A>G|3,BUFFER|p.E221fs*4|c.660_661insN|3,BUFFER|p.E221*|c.661G>T|6,BUFFER|p.E221*|c.661G>T|6,BUFFER|p.E128*|c.382G>T|6,BUFFER|p.E221*|c.661G>T|10,BUFFER|p.?|c.252+10T>A|3,BUFFER|p.Y220N|c.658T>A|16,BUFFER|p.?|c.252+10T>C|4,BUFFER|p.Y220H|c.658T>C|4,BUFFER|p.Y220H|c.658T>C|13,BUFFER|p.Y220H|c.658T>C|4,BUFFER|p.Y220N|c.658T>A|3,BUFFER|p.Y127H|c.379T>C|4,BUFFER|p.Y127N|c.379T>A|3,BUFFER|p.Y220N|c.658T>A|3,BUFFER|p.P219P|c.657C>T|3,BUFFER|p.Y220fs*27|c.655delC|4,BUFFER|p.V218delV|c.652_654delGTG|3,BUFFER|p.P219S|c.655C>T|4,BUFFER|p.V218G|c.653T>G|6,BUFFER|p.V218A|c.653T>C|3,BUFFER|p.V218E|c.653T>A|8,BUFFER|p.V218M|c.652G>A|7,BUFFER|p.V217A|c.650T>C|5,BUFFER|p.V217G|c.650T>G|4,BUFFER|p.V217E|c.650T>A|3,BUFFER|p.V218delV|c.646_648delGTG|8	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM015378,CM951227,rs121912666,TP53_g.12728A>T,TP53_g.12728A>C,TP53_g.12728A>G,COSM10758,COSM43850,COSM1564197,COSM99720,COSM251427,COSM1564198,COSM251426,COSM99718,COSM1564199,COSM3355993,COSM3675523,COSM1644277,COSM3675522,COSM99719,COSM251428,COSM1564200	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25404506	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr220Cys,ENST00000413465,;TP53,missense_variant,p.Tyr220Cys,ENST00000420246,;TP53,missense_variant,p.Tyr220Cys,ENST00000269305,;TP53,missense_variant,p.Tyr88Cys,ENST00000509690,;TP53,missense_variant,p.Tyr220Cys,ENST00000359597,;TP53,missense_variant,p.Tyr127Cys,ENST00000514944,;TP53,missense_variant,p.Tyr220Cys,ENST00000445888,;TP53,missense_variant,p.Tyr220Cys,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	849	189	136	SUCCESS
LAMA1	284217	.	GRCh37	18	7013887	7013887	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs377575918	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	77	235	0	ENST00000389658.3:c.3290C>A	p.Thr1097Lys	p.T1097K	ENST00000389658	NM_005559.3	1097	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS32787.1	3290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGTCCCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180	.	.	ENSP00000374309	.	23/63	.	.	.	.	.	.	.	.	rs377575918	23/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Thr1097Lys,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	3384	235	173	SUCCESS
DNMT1	1786	.	GRCh37	19	10251564	10251564	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	55	0	ENST00000340748.4:c.3368A>C	p.Gln1123Pro	p.Q1123P	ENST00000340748		1123	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS45958.1	3416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTTGGGAC	NONE	.	.	hmmpanther:PTHR10629:SF11,hmmpanther:PTHR10629,PIRSF_domain:PIRSF037404	.	.	ENSP00000352516	.	32/41	.	.	.	.	.	.	.	.	.	32/41	PASS	ENST00000359526	Transcript	1	.	ENSG00000130816	2976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.17)	.	DNMT1_HUMAN	DNMT1	HGNC	K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN	.	UPI000002A823	SNV	DNMT1,missense_variant,p.Gln1123Pro,ENST00000340748,;DNMT1,missense_variant,p.Gln1123Pro,ENST00000540357,;DNMT1,missense_variant,p.Gln1139Pro,ENST00000359526,;DNMT1,non_coding_transcript_exon_variant,,ENST00000593049,;DNMT1,non_coding_transcript_exon_variant,,ENST00000589538,;DNMT1,3_prime_UTR_variant,,ENST00000592705,;DNMT1,non_coding_transcript_exon_variant,,ENST00000587604,;DNMT1,non_coding_transcript_exon_variant,,ENST00000589091,;DNMT1,non_coding_transcript_exon_variant,,ENST00000589351,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586588,;DNMT1,upstream_gene_variant,,ENST00000588913,;DNMT1,upstream_gene_variant,,ENST00000589294,;DNMT1,upstream_gene_variant,,ENST00000587197,;DNMT1,downstream_gene_variant,,ENST00000591239,;	3596	55	60	SUCCESS
DNM2	1785	.	GRCh37	19	10906053	10906053	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1223342362	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	40	92	0	ENST00000355667.6:c.1134G>C	p.Glu378Asp	p.E378D	ENST00000355667	NM_001005360.2	378	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS45969.1	1134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGTTTGA	NONE	.	.	Pfam_domain:PF01031,hmmpanther:PTHR11566:SF23,hmmpanther:PTHR11566	.	.	ENSP00000373905	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000389253	Transcript	1	.	ENSG00000079805	2974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.33)	.	DYN2_HUMAN	DNM2	HGNC	Q8N1K8_HUMAN,K7EPK9_HUMAN	.	UPI000049A626	SNV	DNM2,missense_variant,p.Glu378Asp,ENST00000355667,;DNM2,missense_variant,p.Glu378Asp,ENST00000359692,;DNM2,missense_variant,p.Glu378Asp,ENST00000314646,;DNM2,missense_variant,p.Glu130Asp,ENST00000587830,;DNM2,missense_variant,p.Glu378Asp,ENST00000585892,;DNM2,missense_variant,p.Glu378Asp,ENST00000408974,;DNM2,missense_variant,p.Glu378Asp,ENST00000389253,;DNM2,downstream_gene_variant,,ENST00000587485,;DNM2,non_coding_transcript_exon_variant,,ENST00000591701,;DNM2,upstream_gene_variant,,ENST00000593220,;DNM2,upstream_gene_variant,,ENST00000587329,;	1246	92	119	SUCCESS
CNN1	1264	.	GRCh37	19	11649740	11649740	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	12	196	0	ENST00000252456.2:c.-3A>T		p.*1*	ENST00000252456	NM_001299.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12263.1	.	MUTECT|MUSE	.	CGGCCAGCATG	NONE	.	.	.	.	.	ENSP00000252456	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000252456	Transcript	.	.	ENSG00000130176	2155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNN1_HUMAN	CNN1	HGNC	K7ENC5_HUMAN,B7Z7E1_HUMAN	.	UPI0000127AE3	SNV	CNN1,5_prime_UTR_variant,,ENST00000252456,;CNN1,5_prime_UTR_variant,,ENST00000592923,;CNN1,5_prime_UTR_variant,,ENST00000535659,;CNN1,upstream_gene_variant,,ENST00000587087,;CNN1,upstream_gene_variant,,ENST00000586059,;CNN1,upstream_gene_variant,,ENST00000544952,;CNN1,upstream_gene_variant,,ENST00000585869,;CNN1,non_coding_transcript_exon_variant,,ENST00000588468,;	209	196	135	SUCCESS
UPF1	5976	.	GRCh37	19	18967008	18967008	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	7	111	0	ENST00000262803.5:c.1723C>T	p.Gln575Ter	p.Q575*	ENST00000262803	NM_002911.3	575	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12386.1	1723	MUTECT|MUSE	.	AGCTGCAGAAG	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF340,Gene3D:3.40.50.300,Pfam_domain:PF13086,Superfamily_domains:SSF52540	.	.	ENSP00000262803	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000262803	Transcript	.	.	ENSG00000005007	9962	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RENT1_HUMAN	UPF1	HGNC	B3KY55_HUMAN	.	UPI0000001C89	SNV	UPF1,stop_gained,p.Gln586Ter,ENST00000599848,;UPF1,stop_gained,p.Gln575Ter,ENST00000262803,;UPF1,downstream_gene_variant,,ENST00000598209,;UPF1,downstream_gene_variant,,ENST00000600310,;UPF1,downstream_gene_variant,,ENST00000600868,;UPF1,downstream_gene_variant,,ENST00000600012,;UPF1,downstream_gene_variant,,ENST00000598471,;UPF1,downstream_gene_variant,,ENST00000594243,;UPF1,downstream_gene_variant,,ENST00000601689,;UPF1,upstream_gene_variant,,ENST00000596842,;	1995	111	119	SUCCESS
CILP2	148113	.	GRCh37	19	19656087	19656087	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	23	120	0	ENST00000291495.5:c.2733G>A	p.Val911=	p.V911=	ENST00000291495	NM_153221.2	911	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12405.1	2733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTGGTCCC	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,synonymous_variant,p.%3D,ENST00000291495,;CILP2,synonymous_variant,p.%3D,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	2818	120	100	SUCCESS
LPAR2	9170	.	GRCh37	19	19738291	19738291	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	10	0	ENST00000407877.3:c.1-198A>T		p.*1*	ENST00000407877	NM_004720.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12407.1	.	MUTECT|MUSE	.	GCAGCTGTTTC	NONE	.	.	.	.	.	ENSP00000443256	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000542587	Transcript	.	.	ENSG00000064547	3168	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPAR2_HUMAN	LPAR2	HGNC	K7ER68_HUMAN,K7ENG7_HUMAN,K7ELJ6_HUMAN,K7EJJ9_HUMAN	.	UPI0000048FD7	SNV	LPAR2,5_prime_UTR_variant,,ENST00000542587,;LPAR2,5_prime_UTR_variant,,ENST00000588461,;LPAR2,5_prime_UTR_variant,,ENST00000592061,;LPAR2,5_prime_UTR_variant,,ENST00000591042,;LPAR2,intron_variant,,ENST00000586703,;LPAR2,intron_variant,,ENST00000588233,;LPAR2,intron_variant,,ENST00000407877,;GMIP,downstream_gene_variant,,ENST00000587238,;GMIP,downstream_gene_variant,,ENST00000203556,;GMIP,downstream_gene_variant,,ENST00000445806,;LPAR2,downstream_gene_variant,,ENST00000589311,;LPAR2,downstream_gene_variant,,ENST00000590629,;	818	10	12	SUCCESS
ZNF85	7639	.	GRCh37	19	21132284	21132284	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1169591328	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	29	0	ENST00000328178.8:c.964G>T	p.Ala322Ser	p.A322S	ENST00000328178	NM_003429.4	322	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32977.1	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGCCTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000329793	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328178	Transcript	.	.	ENSG00000105750	13160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.461)	.	tolerated(0.06)	.	ZNF85_HUMAN	ZNF85	HGNC	M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN	.	UPI0000203897	SNV	ZNF85,missense_variant,p.Ala263Ser,ENST00000601023,;ZNF85,missense_variant,p.Ala322Ser,ENST00000328178,;ZNF85,missense_variant,p.Ala289Ser,ENST00000345030,;ZNF85,missense_variant,p.Ala270Ser,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000601284,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000595742,;	1077	29	16	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768845	31768845	+	synonymous_variant	Silent	SNP	A	A	T	rs759867080	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	12	146	0	ENST00000240587.4:c.1854T>A	p.Thr618=	p.T618=	ENST00000240587	NM_020856.2	618	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12421.2	1854	MUTECT|MUSE	.	TTCTCAGTGAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	rs759867080	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,synonymous_variant,p.%3D,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2182	146	169	SUCCESS
ZNF585B	92285	.	GRCh37	19	37677114	37677114	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs765895942	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	115	0	ENST00000532828.2:c.1325A>T	p.His442Leu	p.H442L	ENST00000532828	NM_152279.3	442	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS12500.1	1325	MUTECT|MUSE|VARSCANS	.	CACAGTGACCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000433773	.	5/5	.	.	.	.	.	.	.	.	rs765895942	5/5	PASS	ENST00000532828	Transcript	.	.	ENSG00000245680	30948	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.122)	.	deleterious(0)	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,missense_variant,p.His30Leu,ENST00000312908,;ZNF585B,missense_variant,p.His387Leu,ENST00000531805,;ZNF585B,missense_variant,p.His442Leu,ENST00000532828,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,downstream_gene_variant,,ENST00000591492,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	1577	115	108	SUCCESS
MATK	4145	.	GRCh37	19	3779601	3779601	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	47	0	ENST00000310132.6:c.857A>T	p.Glu286Val	p.E286V	ENST00000310132	NM_139355.2	286	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS12113.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTCGTGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000378485	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.08)	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,missense_variant,p.Glu286Val,ENST00000585778,;MATK,missense_variant,p.Glu287Val,ENST00000395045,;MATK,missense_variant,p.Glu245Val,ENST00000395040,;MATK,missense_variant,p.Glu286Val,ENST00000310132,;MATK,missense_variant,p.Glu193Val,ENST00000588983,;MATK,missense_variant,p.Glu201Val,ENST00000590493,;MATK,downstream_gene_variant,,ENST00000587180,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590028,;AC005777.3,upstream_gene_variant,,ENST00000588332,;	1198	47	29	SUCCESS
KCNK6	9424	.	GRCh37	19	38817261	38817261	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	51	0	ENST00000263372.3:c.351T>A	p.Asp117Glu	p.D117E	ENST00000263372	NM_004823.1	117	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS12513.1	351	MUTECT|MUSE	.	ACTGATGCGGG	NONE	.	.	Prints_domain:PR01333,Superfamily_domains:SSF81324,PIRSF_domain:PIRSF038061,Gene3D:1.10.287.70,Pfam_domain:PF07885,hmmpanther:PTHR11003:SF28,hmmpanther:PTHR11003	.	.	ENSP00000263372	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000263372	Transcript	.	.	ENSG00000099337	6281	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	KCNK6_HUMAN	KCNK6	HGNC	B2RDS2_HUMAN	.	UPI0000030CB7	SNV	KCNK6,missense_variant,p.Asp117Glu,ENST00000263372,;KCNK6,downstream_gene_variant,,ENST00000588137,;	458	51	49	SUCCESS
CGB5	93659	.	GRCh37	19	49548452	49548452	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	21	0	ENST00000301408.6:c.399C>T	p.Pro133=	p.P133=	ENST00000301408	NM_033043.1	133	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12752.1	399	RADIA|VARSCANS	.	GACCCCCGCTT	NONE	.	.	hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12,Gene3D:2.10.90.10	.	.	ENSP00000301408	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301408	Transcript	.	.	ENSG00000189052	16452	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB5	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB5,synonymous_variant,p.%3D,ENST00000301408,;CGB1,intron_variant,,ENST00000391869,;CGB8,downstream_gene_variant,,ENST00000448456,;CGB8,downstream_gene_variant,,ENST00000355414,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;	725	21	18	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49972222	49972222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	117	1	ENST00000293350.4:c.2226G>T	p.Met742Ile	p.M742I	ENST00000293350	NM_153329.3	742	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS12766.1	2226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGTGGTA	NONE	.	.	Gene3D:3.40.605.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036490,Superfamily_domains:SSF53720	.	.	ENSP00000293350	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.23)	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,missense_variant,p.Met742Ile,ENST00000293350,;ALDH16A1,missense_variant,p.Met579Ile,ENST00000540132,;ALDH16A1,missense_variant,p.Met577Ile,ENST00000433981,;ALDH16A1,missense_variant,p.Met691Ile,ENST00000455361,;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000594549,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,intron_variant,,ENST00000599536,;ALDH16A1,downstream_gene_variant,,ENST00000600265,;	2389	118	100	SUCCESS
ZNF613	79898	.	GRCh37	19	52448896	52448896	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	77	151	0	ENST00000293471.6:c.1760A>T	p.Asn587Ile	p.N587I	ENST00000293471	NM_001031721.3	587	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS33089.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTAACAGTG	NONE	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF26	.	.	ENSP00000293471	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000293471	Transcript	.	.	ENSG00000176024	25827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.74)	.	ZN613_HUMAN	ZNF613	HGNC	M0R2C1_HUMAN,M0QX19_HUMAN	.	UPI0000202AD1	SNV	ZNF613,missense_variant,p.Asn551Ile,ENST00000391794,;ZNF613,missense_variant,p.Asn587Ile,ENST00000293471,;ZNF613,downstream_gene_variant,,ENST00000599683,;ZNF613,downstream_gene_variant,,ENST00000600853,;HCCAT3,upstream_gene_variant,,ENST00000600253,;HCCAT3,upstream_gene_variant,,ENST00000595010,;ZNF613,intron_variant,,ENST00000601794,;ZNF613,downstream_gene_variant,,ENST00000593379,;	2439	151	216	SUCCESS
LENG8	114823	.	GRCh37	19	54962528	54962528	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	54	159	0	ENST00000326764.5:c.7G>A	p.Ala3Thr	p.A3T	ENST00000326764	NM_052925.2	3	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12894.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGGCCAAC	NONE	.	.	.	.	.	ENSP00000318374	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated_low_confidence(0.23)	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,missense_variant,p.Ala3Thr,ENST00000326764,;LENG8,missense_variant,p.Ala3Thr,ENST00000376514,;LENG8,missense_variant,p.Ala3Thr,ENST00000431846,;LENG8,missense_variant,p.Ala3Thr,ENST00000443957,;LENG8,missense_variant,p.Ala3Thr,ENST00000439657,;LENG8,missense_variant,p.Ala3Thr,ENST00000376526,;LENG8,intron_variant,,ENST00000436479,;LENG8-AS1,upstream_gene_variant,,ENST00000429922,;LENG8-AS1,upstream_gene_variant,,ENST00000416022,;LENG8-AS1,upstream_gene_variant,,ENST00000448978,;LENG8,upstream_gene_variant,,ENST00000462541,;AC008746.5,downstream_gene_variant,,ENST00000445491,;	486	159	165	SUCCESS
ZNF547	284306	.	GRCh37	19	57889239	57889239	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	8	104	0	ENST00000282282.3:c.895A>T	p.Ser299Cys	p.S299C	ENST00000282282	NM_173631.2	299	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS33131.1	895	MUTECT|MUSE	.	GTTGCAGTGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF39,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282282	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282282	Transcript	.	.	ENSG00000152433	26432	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	deleterious(0.02)	.	ZN547_HUMAN	ZNF547	HGNC	M0QX63_HUMAN	.	UPI00001609AA	SNV	ZNF547,missense_variant,p.Ser299Cys,ENST00000282282,;AC003002.4,intron_variant,,ENST00000597658,;ZNF547,downstream_gene_variant,,ENST00000597567,;ZNF547,downstream_gene_variant,,ENST00000595335,;	1045	104	117	SUCCESS
ZNF773	374928	.	GRCh37	19	58018242	58018242	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	9	115	0	ENST00000282292.4:c.779C>A	p.Ala260Asp	p.A260D	ENST00000282292	NM_198542.1	260	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS33134.1	779	MUTECT|MUSE	.	TAATGCTGACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF40,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282292	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282292	Transcript	.	.	ENSG00000152439	30487	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	tolerated(0.09)	.	ZN773_HUMAN	ZNF773	HGNC	.	.	UPI00001BD93D	SNV	ZNF773,missense_variant,p.Ala260Asp,ENST00000282292,;ZNF773,missense_variant,p.Ala259Asp,ENST00000598770,;ZNF773,intron_variant,,ENST00000593916,;ZNF773,intron_variant,,ENST00000599847,;ZNF773,intron_variant,,ENST00000597061,;AC003005.4,downstream_gene_variant,,ENST00000599674,;AC003005.4,downstream_gene_variant,,ENST00000601674,;ZNF773,downstream_gene_variant,,ENST00000601958,;	919	115	137	SUCCESS
ZNF211	10520	.	GRCh37	19	58152706	58152706	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	85	0	ENST00000347302.3:c.852T>G	p.Pro284=	p.P284=	ENST00000347302	NM_198855.2	284	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS58686.1	1047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTTATGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF201,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000299871	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299871	Transcript	.	.	ENSG00000121417	13003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN211_HUMAN	ZNF211	HGNC	.	.	UPI0000D4CB1A	SNV	ZNF211,synonymous_variant,p.%3D,ENST00000254182,;ZNF211,synonymous_variant,p.%3D,ENST00000420680,;ZNF211,synonymous_variant,p.%3D,ENST00000240731,;ZNF211,synonymous_variant,p.%3D,ENST00000544273,;ZNF211,synonymous_variant,p.%3D,ENST00000541801,;ZNF211,synonymous_variant,p.%3D,ENST00000299871,;ZNF211,synonymous_variant,p.%3D,ENST00000347302,;ZNF211,synonymous_variant,p.%3D,ENST00000391703,;ZNF211,synonymous_variant,p.%3D,ENST00000407202,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;	1178	85	71	SUCCESS
FRRS1	391059	.	GRCh37	1	100174554	100174554	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs553200347	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	71	0	ENST00000287474.5:c.1781A>T	p.Gln594Leu	p.Q594L	ENST00000287474	NM_001013660.2	594	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS30780.1	1781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTTGGCCT	NONE	byCluster	.	.	.	.	ENSP00000287474	.	17/17	.	.	.	.	.	.	.	.	rs553200347	17/17	PASS	ENST00000287474	Transcript	.	.	ENSG00000156869	27622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(1)	.	FRRS1_HUMAN	FRRS1	HGNC	.	.	UPI000042037B	SNV	FRRS1,missense_variant,p.Gln594Leu,ENST00000287474,;FRRS1,3_prime_UTR_variant,,ENST00000414213,;FRRS1,downstream_gene_variant,,ENST00000489209,;FRRS1,downstream_gene_variant,,ENST00000492943,;	2383	71	108	SUCCESS
KIF1B	23095	.	GRCh37	1	10408722	10408722	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	101	229	0	ENST00000377086.1:c.3880A>T	p.Ile1294Phe	p.I1294F	ENST00000377086		1294	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS111.1	3742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGATCACA	NONE	.	.	hmmpanther:PTHR24115:SF328,hmmpanther:PTHR24115,Pfam_domain:PF12473	.	.	ENSP00000263934	.	35/47	.	.	.	.	.	.	.	.	.	35/47	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	.	tolerated(0.07)	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,missense_variant,p.Ile1294Phe,ENST00000377081,;KIF1B,missense_variant,p.Ile1294Phe,ENST00000377086,;KIF1B,missense_variant,p.Ile1248Phe,ENST00000263934,;KIF1B,non_coding_transcript_exon_variant,,ENST00000465635,;KIF1B,non_coding_transcript_exon_variant,,ENST00000483340,;	3895	229	329	SUCCESS
MIR200A	406983	.	GRCh37	1	1103273	1103273	+	mature_miRNA_variant	RNA	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	18	189	0	ENST00000384875.1:n.31T>A		p.*11*	ENST00000384875				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	GACAGTGCTGG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384875	Transcript	.	.	ENSG00000207607	31578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MIR200A	HGNC	.	.	.	SNV	MIR200A,mature_miRNA_variant,,ENST00000384875,;MIR200B,downstream_gene_variant,,ENST00000384997,;RP11-465B22.8,upstream_gene_variant,,ENST00000606993,;MIR429,upstream_gene_variant,,ENST00000362106,;	31	189	226	SUCCESS
STRIP1	85369	.	GRCh37	1	110585809	110585809	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	45	103	0	ENST00000369795.3:c.985C>G	p.Arg329Gly	p.R329G	ENST00000369795	NM_033088.3	329	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS30798.1	985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCGCAAC	NONE	.	.	hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF5,Pfam_domain:PF07923	.	.	ENSP00000358810	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000369795	Transcript	.	.	ENSG00000143093	25916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	STRP1_HUMAN	STRIP1	HGNC	.	.	UPI0000160E65	SNV	STRIP1,missense_variant,p.Arg234Gly,ENST00000369796,;STRIP1,missense_variant,p.Arg329Gly,ENST00000369795,;STRIP1,downstream_gene_variant,,ENST00000369794,;STRIP1,downstream_gene_variant,,ENST00000489059,;STRIP1,upstream_gene_variant,,ENST00000461054,;STRIP1,3_prime_UTR_variant,,ENST00000485775,;STRIP1,non_coding_transcript_exon_variant,,ENST00000535003,;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,;STRIP1,downstream_gene_variant,,ENST00000540970,;STRIP1,upstream_gene_variant,,ENST00000539541,;	1007	103	144	SUCCESS
SLC6A17	388662	.	GRCh37	1	110709579	110709579	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767971116	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	142	267	0	ENST00000331565.4:c.28C>A	p.Arg10Ser	p.R10S	ENST00000331565	NM_001010898.2	10	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS30799.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGTGAG	NONE	.	.	.	.	.	ENSP00000330199	.	2/12	.	.	.	.	.	.	.	.	rs767971116	2/12	PASS	ENST00000331565	Transcript	.	.	ENSG00000197106	31399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.746)	.	tolerated(0.06)	.	S6A17_HUMAN	SLC6A17	HGNC	.	.	UPI0000470B3D	SNV	SLC6A17,missense_variant,p.Arg10Ser,ENST00000331565,;RP5-1028L10.1,non_coding_transcript_exon_variant,,ENST00000443008,;RP5-1028L10.1,non_coding_transcript_exon_variant,,ENST00000430098,;RP5-1028L10.1,downstream_gene_variant,,ENST00000418579,;	513	267	322	SUCCESS
VPS13D	55187	.	GRCh37	1	12313850	12313850	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	93	221	0	ENST00000358136.3:c.636T>A	p.Thr212=	p.T212=	ENST00000358136	NM_015378.2	212	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30588.1	636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACTTTACT	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	7/70	.	.	.	.	.	.	.	.	.	7/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,synonymous_variant,p.%3D,ENST00000358136,;VPS13D,synonymous_variant,p.%3D,ENST00000356315,;VPS13D,non_coding_transcript_exon_variant,,ENST00000489961,;VPS13D,downstream_gene_variant,,ENST00000476169,;	766	221	285	SUCCESS
TAS1R3	83756	.	GRCh37	1	1268035	1268035	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766398837	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	52	0	ENST00000339381.5:c.1124G>T	p.Cys375Phe	p.C375F	ENST00000339381	NM_152228.1	375	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS30556.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTGCATCA	NONE	.	.	hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF2,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000344411	.	3/6	.	.	.	.	.	.	.	.	rs766398837	3/6	PASS	ENST00000339381	Transcript	.	.	ENSG00000169962	15661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	tolerated(0.21)	.	TS1R3_HUMAN	TAS1R3	HGNC	.	.	UPI0000051F47	SNV	TAS1R3,missense_variant,p.Cys375Phe,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000378891,;GLTPD1,downstream_gene_variant,,ENST00000343938,;DVL1,downstream_gene_variant,,ENST00000378888,;GLTPD1,downstream_gene_variant,,ENST00000464957,;	1156	52	45	SUCCESS
CCNL2	81669	.	GRCh37	1	1328031	1328031	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	24	0	ENST00000400809.3:c.659+745C>T		p.*220*	ENST00000400809	NM_030937.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30557.1	.	MUTECT|MUSE	.	CAGGAGTCGGC	NONE	.	.	.	.	.	ENSP00000383611	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,3_prime_UTR_variant,,ENST00000408918,;CCNL2,intron_variant,,ENST00000400809,;CCNL2,intron_variant,,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,intron_variant,,ENST00000471930,;CCNL2,intron_variant,,ENST00000469113,;CCNL2,upstream_gene_variant,,ENST00000505849,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,intron_variant,,ENST00000481223,;CCNL2,intron_variant,,ENST00000482621,;CCNL2,intron_variant,,ENST00000488340,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,upstream_gene_variant,,ENST00000480479,;CCNL2,downstream_gene_variant,,ENST00000463895,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000418865,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,upstream_gene_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000482365,;CCNL2,upstream_gene_variant,,ENST00000492998,;	.	24	12	SUCCESS
CCNL2	81669	.	GRCh37	1	1328107	1328107	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	69	0	ENST00000400809.3:c.659+669C>T		p.*220*	ENST00000400809	NM_030937.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30557.1	.	RADIA|MUTECT|MUSE	.	TGGCTGAAGAT	NONE	.	.	.	.	.	ENSP00000383611	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,3_prime_UTR_variant,,ENST00000408918,;CCNL2,5_prime_UTR_variant,,ENST00000408952,;CCNL2,intron_variant,,ENST00000400809,;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,non_coding_transcript_exon_variant,,ENST00000471930,;CCNL2,upstream_gene_variant,,ENST00000505849,;CCNL2,upstream_gene_variant,,ENST00000469113,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,intron_variant,,ENST00000481223,;CCNL2,intron_variant,,ENST00000488340,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,upstream_gene_variant,,ENST00000480479,;CCNL2,downstream_gene_variant,,ENST00000463895,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000418865,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,upstream_gene_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000482365,;CCNL2,upstream_gene_variant,,ENST00000492998,;	.	69	43	SUCCESS
CCNL2	81669	.	GRCh37	1	1328110	1328110	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	74	0	ENST00000400809.3:c.659+666C>T		p.*220*	ENST00000400809	NM_030937.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30557.1	.	RADIA|MUTECT|MUSE	.	CTGAAGATGCC	NONE	.	.	.	.	.	ENSP00000383611	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,3_prime_UTR_variant,,ENST00000408918,;CCNL2,5_prime_UTR_variant,,ENST00000408952,;CCNL2,intron_variant,,ENST00000400809,;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,non_coding_transcript_exon_variant,,ENST00000471930,;CCNL2,upstream_gene_variant,,ENST00000505849,;CCNL2,upstream_gene_variant,,ENST00000469113,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,intron_variant,,ENST00000481223,;CCNL2,intron_variant,,ENST00000488340,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,upstream_gene_variant,,ENST00000480479,;CCNL2,downstream_gene_variant,,ENST00000463895,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000418865,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,upstream_gene_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000482365,;CCNL2,upstream_gene_variant,,ENST00000492998,;	.	74	45	SUCCESS
MTMR11	10903	.	GRCh37	1	149904191	149904191	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	87	0	ENST00000439741.2:c.1017A>T	p.Ser339=	p.S339=	ENST00000439741	NM_001145862.1	339	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53360.1	1017	MUTECT|MUSE	.	AGGGCTGAAAG	NONE	.	.	Superfamily_domains:SSF52799,Pfam_domain:PF06602,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,PROSITE_profiles:PS51339	.	.	ENSP00000391668	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000439741	Transcript	.	.	ENSG00000014914	24307	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTMRB_HUMAN	MTMR11	HGNC	.	.	UPI000173AA17	SNV	MTMR11,synonymous_variant,p.%3D,ENST00000406732,;MTMR11,synonymous_variant,p.%3D,ENST00000369140,;MTMR11,synonymous_variant,p.%3D,ENST00000439741,;MTMR11,intron_variant,,ENST00000361405,;SF3B4,upstream_gene_variant,,ENST00000457312,;SF3B4,upstream_gene_variant,,ENST00000271628,;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,non_coding_transcript_exon_variant,,ENST00000493562,;MTMR11,intron_variant,,ENST00000466496,;MTMR11,upstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000479272,;MTMR11,upstream_gene_variant,,ENST00000490310,;MTMR11,intron_variant,,ENST00000482343,;	1268	87	140	SUCCESS
ADAM15	8751	.	GRCh37	1	155030505	155030505	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	71	0	ENST00000356955.2:c.1595A>T	p.Gln532Leu	p.Q532L	ENST00000356955	NM_207197.2	532	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS1087.1	1595	MUTECT|MUSE	.	GTGCCAGTCAC	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF130,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000349436	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000356955	Transcript	.	.	ENSG00000143537	193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.889)	.	tolerated(0.33)	.	ADA15_HUMAN	ADAM15	HGNC	.	.	UPI000035CC78	SNV	ADAM15,missense_variant,p.Gln532Leu,ENST00000359280,;ADAM15,missense_variant,p.Gln532Leu,ENST00000356955,;ADAM15,missense_variant,p.Gln532Leu,ENST00000360674,;ADAM15,missense_variant,p.Gln516Leu,ENST00000447332,;ADAM15,missense_variant,p.Gln542Leu,ENST00000531455,;ADAM15,missense_variant,p.Gln532Leu,ENST00000449910,;ADAM15,missense_variant,p.Gln532Leu,ENST00000355956,;ADAM15,missense_variant,p.Gln532Leu,ENST00000271836,;ADAM15,missense_variant,p.Gln532Leu,ENST00000368412,;ADAM15,missense_variant,p.Gln238Leu,ENST00000368410,;ADAM15,missense_variant,p.Gln238Leu,ENST00000368413,;ADAM15,non_coding_transcript_exon_variant,,ENST00000472434,;ADAM15,downstream_gene_variant,,ENST00000477533,;ADAM15,downstream_gene_variant,,ENST00000487956,;ADAM15,downstream_gene_variant,,ENST00000485346,;ADAM15,downstream_gene_variant,,ENST00000531831,;ADAM15,upstream_gene_variant,,ENST00000474709,;ADAM15,upstream_gene_variant,,ENST00000462116,;ADAM15,downstream_gene_variant,,ENST00000480331,;ADAM15,downstream_gene_variant,,ENST00000531703,;ADAM15,downstream_gene_variant,,ENST00000470779,;ADAM15,upstream_gene_variant,,ENST00000468053,;ADAM15,upstream_gene_variant,,ENST00000461234,;ADAM15,downstream_gene_variant,,ENST00000533732,;ADAM15,downstream_gene_variant,,ENST00000473905,;ADAM15,missense_variant,p.Gln532Leu,ENST00000529473,;ADAM15,missense_variant,p.Gln532Leu,ENST00000526491,;ADAM15,non_coding_transcript_exon_variant,,ENST00000461564,;ADAM15,non_coding_transcript_exon_variant,,ENST00000527418,;ADAM15,upstream_gene_variant,,ENST00000498481,;ADAM15,upstream_gene_variant,,ENST00000464824,;ADAM15,downstream_gene_variant,,ENST00000534019,;ADAM15,downstream_gene_variant,,ENST00000525020,;	1696	71	65	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155931649	155931649	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	243	30	204	0	ENST00000361247.4:c.1271A>T	p.Glu424Val	p.E424V	ENST00000361247	NM_001162384.1	424	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS53376.1	1271	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTCCTTC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000354837	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.713)	.	deleterious(0)	.	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	SNV	ARHGEF2,missense_variant,p.Glu424Val,ENST00000361247,;ARHGEF2,missense_variant,p.Glu425Val,ENST00000368315,;ARHGEF2,missense_variant,p.Glu396Val,ENST00000313695,;ARHGEF2,missense_variant,p.Glu396Val,ENST00000368316,;ARHGEF2,missense_variant,p.Glu423Val,ENST00000313667,;ARHGEF2,missense_variant,p.Glu469Val,ENST00000462460,;ARHGEF2,downstream_gene_variant,,ENST00000471589,;ARHGEF2,downstream_gene_variant,,ENST00000497907,;ARHGEF2,downstream_gene_variant,,ENST00000609707,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000474428,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000476273,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000470975,;ARHGEF2,downstream_gene_variant,,ENST00000470874,;ARHGEF2,downstream_gene_variant,,ENST00000608543,;	1371	204	273	SUCCESS
SMG5	23381	.	GRCh37	1	156230352	156230352	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	17	212	0	ENST00000361813.5:c.2173A>T	p.Ser725Cys	p.S725C	ENST00000361813	NM_015327.2	725	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1137.1	2173	MUTECT|MUSE	.	AAGGCTAGAGG	NONE	.	.	Superfamily_domains:SSF48452,Pfam_domain:PF10373,hmmpanther:PTHR15696:SF1,hmmpanther:PTHR15696,Low_complexity_(Seg):seg	.	.	ENSP00000355261	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000361813	Transcript	.	.	ENSG00000198952	24644	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.7)	.	tolerated(0.18)	.	SMG5_HUMAN	SMG5	HGNC	.	.	UPI0000050C24	SNV	SMG5,missense_variant,p.Ser725Cys,ENST00000361813,;SMG5,intron_variant,,ENST00000368267,;	2318	212	265	SUCCESS
OR6Y1	391112	.	GRCh37	1	158517532	158517532	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	338	37	237	0	ENST00000302617.3:c.364A>T	p.Ile122Phe	p.I122F	ENST00000302617	NM_001005189.1	122	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS30899.1	364	RADIA|MUTECT|MUSE|VARSCANS	.	CATGATAGCAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302617	Transcript	.	.	ENSG00000197532	14823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious(0.01)	.	OR6Y1_HUMAN	OR6Y1	HGNC	.	.	UPI000004B1E2	SNV	OR6Y1,missense_variant,p.Ile122Phe,ENST00000302617,;	364	237	375	SUCCESS
IGSF9	57549	.	GRCh37	1	159913244	159913244	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	453	39	500	0	ENST00000368094.1:c.1A>T	p.Met1?	p.M1?	ENST00000368094	NM_001135050.1	1	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS44254.1	1	MUTECT|MUSE|VARSCANS	.	CACCATAGCCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000357073	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000368094	Transcript	.	.	ENSG00000085552	18132	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.029)	.	deleterious(0.03)	.	TUTLA_HUMAN	IGSF9	HGNC	Q6XYD8_HUMAN	.	UPI000004A10B	SNV	IGSF9,start_lost,p.Met1?,ENST00000368094,;IGSF9,start_lost,p.Met1?,ENST00000361509,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;	199	500	492	SUCCESS
NCSTN	23385	.	GRCh37	1	160325525	160325525	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	249	11	192	0	ENST00000294785.5:c.1433A>T	p.Asn478Ile	p.N478I	ENST00000294785	NM_015331.2	478	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS1203.1	1433	MUTECT|MUSE	.	CCTGAACTTTG	NONE	.	.	hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092,Pfam_domain:PF05450,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000294785	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000294785	Transcript	.	.	ENSG00000162736	17091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.392)	.	tolerated(0.12)	.	NICA_HUMAN	NCSTN	HGNC	E7ENA9_HUMAN	.	UPI0000042050	SNV	NCSTN,missense_variant,p.Asn478Ile,ENST00000294785,;NCSTN,missense_variant,p.Asn340Ile,ENST00000535857,;NCSTN,missense_variant,p.Asn458Ile,ENST00000368063,;NCSTN,missense_variant,p.Asn220Ile,ENST00000368065,;NCSTN,missense_variant,p.Asn155Ile,ENST00000435149,;NCSTN,missense_variant,p.Asn314Ile,ENST00000424645,;NCSTN,missense_variant,p.Asn458Ile,ENST00000392212,;NCSTN,downstream_gene_variant,,ENST00000424754,;NCSTN,downstream_gene_variant,,ENST00000421914,;NCSTN,downstream_gene_variant,,ENST00000438008,;NCSTN,non_coding_transcript_exon_variant,,ENST00000491390,;NCSTN,non_coding_transcript_exon_variant,,ENST00000459963,;NCSTN,upstream_gene_variant,,ENST00000469159,;	1558	192	261	SUCCESS
FBXO42	54455	.	GRCh37	1	16578144	16578145	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	186	24	166	0	ENST00000375592.3:c.1174_1175del	p.Gln392ValfsTer8	p.Q392Vfs*8	ENST00000375592	NM_018994.1	392	CAg/g	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS30613.1	1174-1175	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGACTGAGAGC	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF250	.	.	ENSP00000364742	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	deletion	FBXO42,frameshift_variant,p.Gln392ValfsTer8,ENST00000375592,;FBXO42,frameshift_variant,p.Gln110ValfsTer8,ENST00000444116,;FBXO42,frameshift_variant,p.Gln110ValfsTer8,ENST00000456164,;	1391-1392	166	210	SUCCESS
NADK	65220	.	GRCh37	1	1687958	1687958	+	synonymous_variant	Silent	SNP	G	G	A	rs747159807	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	60	127	0	ENST00000341426.5:c.483C>T	p.Phe161=	p.F161=	ENST00000341426	NM_023018.4	161	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS55562.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACAGAATTT	NONE	.	.	HAMAP:MF_00361,hmmpanther:PTHR20275:SF8,hmmpanther:PTHR20275,Gene3D:3.40.50.10330,Superfamily_domains:SSF111331	.	.	ENSP00000340925	.	7/14	.	.	.	.	.	.	.	.	rs747159807	7/14	PASS	ENST00000344463	Transcript	.	.	ENSG00000008130	29831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NADK_HUMAN	NADK	HGNC	.	.	UPI000013CBEB	SNV	NADK,synonymous_variant,p.%3D,ENST00000378625,;NADK,synonymous_variant,p.%3D,ENST00000344463,;NADK,synonymous_variant,p.%3D,ENST00000400922,;NADK,synonymous_variant,p.%3D,ENST00000341991,;NADK,synonymous_variant,p.%3D,ENST00000342348,;NADK,synonymous_variant,p.%3D,ENST00000341426,;NADK,3_prime_UTR_variant,,ENST00000469045,;NADK,downstream_gene_variant,,ENST00000492768,;NADK,synonymous_variant,p.%3D,ENST00000489538,;NADK,3_prime_UTR_variant,,ENST00000497186,;NADK,non_coding_transcript_exon_variant,,ENST00000477235,;NADK,non_coding_transcript_exon_variant,,ENST00000492845,;NADK,downstream_gene_variant,,ENST00000460602,;NADK,upstream_gene_variant,,ENST00000480499,;NADK,upstream_gene_variant,,ENST00000498806,;NADK,upstream_gene_variant,,ENST00000497615,;NADK,upstream_gene_variant,,ENST00000497747,;	1140	127	150	SUCCESS
F5	2153	.	GRCh37	1	169521814	169521814	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	11	102	0	ENST00000367797.3:c.1277A>T	p.Gln426Leu	p.Q426L	ENST00000367797	NM_000130.4	426	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1281.1	1277	MUTECT|MUSE|VARSCANS	.	TGACCTGGGCT	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000356771	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,missense_variant,p.Gln426Leu,ENST00000367796,;F5,missense_variant,p.Gln289Leu,ENST00000546081,;F5,missense_variant,p.Gln426Leu,ENST00000367797,;	1479	102	150	SUCCESS
GORAB	92344	.	GRCh37	1	170521319	170521319	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777973388	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	15	146	0	ENST00000367763.3:c.901G>T	p.Val301Leu	p.V301L	ENST00000367763	NM_152281.2	301	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1289.1	901	MUTECT|MUSE|VARSCANS	.	TAGATGTAGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21470:SF2,hmmpanther:PTHR21470	.	.	ENSP00000356737	.	5/5	.	.	.	.	.	.	.	.	rs777973388	5/5	PASS	ENST00000367763	Transcript	.	.	ENSG00000120370	25676	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.654)	.	tolerated(0.13)	.	GORAB_HUMAN	GORAB	HGNC	.	.	UPI000013FDCA	SNV	GORAB,missense_variant,p.Val301Leu,ENST00000367763,;GORAB,3_prime_UTR_variant,,ENST00000498166,;GORAB,non_coding_transcript_exon_variant,,ENST00000498600,;GORAB,non_coding_transcript_exon_variant,,ENST00000475113,;	921	147	164	SUCCESS
TDRD5	163589	.	GRCh37	1	179562719	179562719	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	108	244	0	ENST00000294848.8:c.357G>A	p.Arg119=	p.R119=	ENST00000294848	NM_173533.3	119	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS55663.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCGGCGAGT	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;	607	244	329	SUCCESS
UBR4	23352	.	GRCh37	1	19480377	19480377	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs747880144	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	221	431	0	ENST00000375254.3:c.6515A>T	p.Asn2172Ile	p.N2172I	ENST00000375254	NM_020765.2	2172	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS189.1	6515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTTCATC	NONE	.	.	hmmpanther:PTHR21725	.	.	ENSP00000364403	.	45/106	.	.	.	.	.	.	.	.	rs747880144	45/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Asn2172Ile,ENST00000375267,;UBR4,missense_variant,p.Asn882Ile,ENST00000417040,;UBR4,missense_variant,p.Asn2172Ile,ENST00000375254,;UBR4,missense_variant,p.Asn2172Ile,ENST00000375217,;UBR4,missense_variant,p.Asn2172Ile,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000425413,;UBR4,non_coding_transcript_exon_variant,,ENST00000497018,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	6543	431	385	SUCCESS
AKR7L	246181	.	GRCh37	1	19596175	19596175	+	intron_variant	Intron	SNP	T	T	A	rs780722103	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	19	213	0	ENST00000420396.2:c.170+770A>T		p.*57*	ENST00000420396				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGTAAG	NONE	byFrequency	.	.	.	.	ENSP00000406430	.	.	.	.	.	.	.	.	.	.	rs780722103	.	PASS	ENST00000420396	Transcript	.	.	ENSG00000211454	24056	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARK74_HUMAN	AKR7L	HGNC	.	.	UPI0000236FED	SNV	AKR7L,intron_variant,,ENST00000420396,;AKR7L,downstream_gene_variant,,ENST00000493176,;AKR7L,splice_acceptor_variant,,ENST00000429712,;AKR7L,intron_variant,,ENST00000457194,;	.	214	174	SUCCESS
ASPM	259266	.	GRCh37	1	197108988	197108988	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757059004	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	43	0	ENST00000367409.4:c.1935C>A	p.Phe645Leu	p.F645L	ENST00000367409	NM_018136.4	645	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS1389.1	1935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTGAATAT	NONE	.	.	.	.	.	ENSP00000356379	.	4/28	.	.	.	.	.	.	.	.	rs757059004	4/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.63)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Phe645Leu,ENST00000367409,;ASPM,missense_variant,p.Phe645Leu,ENST00000294732,;ASPM,upstream_gene_variant,,ENST00000367408,;RP11-32D17.4,upstream_gene_variant,,ENST00000442280,;	2192	43	41	SUCCESS
CR1	1378	.	GRCh37	1	207679331	207679331	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	365	29	290	0	ENST00000367051.1:c.204T>A	p.Tyr68Ter	p.Y68*	ENST00000367051		68	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS44308.1	204	MUTECT|MUSE	.	ACATATCTGAA	NONE	.	.	PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	2/47	.	.	.	.	.	.	.	.	.	2/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,stop_gained,p.Tyr68Ter,ENST00000367051,;CR1,stop_gained,p.Tyr68Ter,ENST00000400960,;CR1,stop_gained,p.Tyr68Ter,ENST00000367052,;CR1,stop_gained,p.Tyr68Ter,ENST00000367049,;CR1,stop_gained,p.Tyr68Ter,ENST00000534202,;CR1,stop_gained,p.Tyr44Ter,ENST00000529814,;CR1,stop_gained,p.Tyr68Ter,ENST00000367053,;CR1,non_coding_transcript_exon_variant,,ENST00000367050,;CR1,non_coding_transcript_exon_variant,,ENST00000434033,;CR1,non_coding_transcript_exon_variant,,ENST00000436595,;CR1,non_coding_transcript_exon_variant,,ENST00000450439,;CR1,non_coding_transcript_exon_variant,,ENST00000530487,;	204	290	394	SUCCESS
RD3	343035	.	GRCh37	1	211652560	211652560	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1198032436	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	52	0	ENST00000367002.4:c.406C>A	p.His136Asn	p.H136N	ENST00000367002	NM_001164688.1	136	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS1498.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTGGGCCT	NONE	.	.	.	.	.	ENSP00000355969	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367002	Transcript	.	.	ENSG00000198570	19689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.1)	.	RD3_HUMAN	RD3	HGNC	.	.	UPI00001BB29F	SNV	RD3,missense_variant,p.His136Asn,ENST00000367002,;RD3,non_coding_transcript_exon_variant,,ENST00000484910,;	1570	52	39	SUCCESS
USH2A	7399	.	GRCh37	1	215972280	215972280	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	149	260	0	ENST00000307340.3:c.9927A>G	p.Gly3309=	p.G3309=	ENST00000307340	NM_206933.2	3309	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS31025.1	9927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTCCACC	NONE	.	.	SMART_domains:SM00060,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	.	.	ENSP00000305941	.	50/72	.	.	.	.	.	.	.	.	.	50/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	10314	260	367	SUCCESS
EPHB2	2048	.	GRCh37	1	23222044	23222044	+	synonymous_variant	Silent	SNP	T	T	A	rs141173528	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	14	158	0	ENST00000400191.3:c.1671T>A	p.Ala557=	p.A557=	ENST00000400191	NM_004442.6	557	gcT/gcA	0	C:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS230.1	1671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCTGTGGT	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	.	C:0	ENSP00000363763	.	8/16	.	.	.	.	.	.	.	.	rs141173528	8/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,synonymous_variant,p.%3D,ENST00000374627,;EPHB2,synonymous_variant,p.%3D,ENST00000374632,;EPHB2,synonymous_variant,p.%3D,ENST00000400191,;EPHB2,synonymous_variant,p.%3D,ENST00000374630,;EPHB2,downstream_gene_variant,,ENST00000544305,;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,;	1684	158	100	SUCCESS
LGALS8	3964	.	GRCh37	1	236708178	236708178	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1476943972	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	44	92	0	ENST00000341872.6:c.767T>C	p.Ile256Thr	p.I256T	ENST00000341872	NM_201543.2	256	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS1611.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATTACCT	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF22,Pfam_domain:PF00337,Gene3D:2.60.120.200,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000435460	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000526589	Transcript	.	.	ENSG00000116977	6569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.01)	.	LEG8_HUMAN	LGALS8	HGNC	Q5T3P9_HUMAN,E9PPL1_HUMAN,E9PJ77_HUMAN,B1ANM0_HUMAN	.	UPI0000169CE4	SNV	LGALS8,missense_variant,p.Ile229Thr,ENST00000323938,;LGALS8,missense_variant,p.Ile298Thr,ENST00000527974,;LGALS8,missense_variant,p.Ile256Thr,ENST00000526634,;LGALS8,missense_variant,p.Ile239Thr,ENST00000416919,;LGALS8,missense_variant,p.Ile239Thr,ENST00000525042,;LGALS8,missense_variant,p.Ile256Thr,ENST00000366584,;LGALS8,missense_variant,p.Ile298Thr,ENST00000526589,;LGALS8,missense_variant,p.Ile298Thr,ENST00000352231,;LGALS8,missense_variant,p.Ile298Thr,ENST00000450372,;LGALS8,missense_variant,p.Ile256Thr,ENST00000341872,;LGALS8,downstream_gene_variant,,ENST00000454943,;LGALS8,downstream_gene_variant,,ENST00000238181,;LGALS8,downstream_gene_variant,,ENST00000430527,;LGALS8,downstream_gene_variant,,ENST00000406509,;HEATR1,downstream_gene_variant,,ENST00000366582,;RP11-385F5.4,intron_variant,,ENST00000433131,;LGALS8,non_coding_transcript_exon_variant,,ENST00000528259,;LGALS8,non_coding_transcript_exon_variant,,ENST00000489586,;LGALS8,non_coding_transcript_exon_variant,,ENST00000525789,;LGALS8,downstream_gene_variant,,ENST00000532640,;LGALS8,downstream_gene_variant,,ENST00000526652,;LGALS8,downstream_gene_variant,,ENST00000442397,;LGALS8,downstream_gene_variant,,ENST00000528782,;LGALS8,downstream_gene_variant,,ENST00000529796,;LGALS8,downstream_gene_variant,,ENST00000366583,;LGALS8,downstream_gene_variant,,ENST00000434231,;	1413	92	119	SUCCESS
RYR2	6262	.	GRCh37	1	237868576	237868576	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	41	120	0	ENST00000366574.2:c.9513G>A	p.Leu3171=	p.L3171=	ENST00000366574	NM_001035.2	3171	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55691.1	9513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGGAAAC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	67/105	.	.	.	.	.	.	.	.	.	67/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	9830	120	136	SUCCESS
CEP170	9859	.	GRCh37	1	243354349	243354349	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1449160283	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	14	188	0	ENST00000366542.1:c.1079A>T	p.Asp360Val	p.D360V	ENST00000366542	NM_014812.2	360	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS44339.1	1079	MUTECT|MUSE	.	GAACATCACTT	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17	.	.	ENSP00000355500	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000366542	Transcript	.	.	ENSG00000143702	28920	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CE170_HUMAN	CEP170	HGNC	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN	.	UPI0000470238	SNV	CEP170,missense_variant,p.Asp262Val,ENST00000336415,;CEP170,missense_variant,p.Asp360Val,ENST00000366544,;CEP170,missense_variant,p.Asp360Val,ENST00000366542,;CEP170,missense_variant,p.Asp360Val,ENST00000366543,;CEP170,upstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000461671,;CEP170,upstream_gene_variant,,ENST00000521911,;	1131	188	213	SUCCESS
MTFR1L	56181	.	GRCh37	1	26158452	26158452	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	125	0	ENST00000374300.3:c.814A>G	p.Ile272Val	p.I272V	ENST00000374300	NM_001099626.1	272	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41284.1	814	MUTECT|MUSE	.	TGCTTATCTCT	NONE	.	.	hmmpanther:PTHR14215,hmmpanther:PTHR14215:SF3	.	.	ENSP00000363419	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000374301	Transcript	.	.	ENSG00000117640	28836	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.034)	.	deleterious(0.05)	.	MFR1L_HUMAN	MTFR1L	HGNC	E9PSD6_HUMAN,E9PRW1_HUMAN,E9PPQ0_HUMAN,E9PPF9_HUMAN,E9PLU1_HUMAN,E9PLD2_HUMAN,C9JF50_HUMAN	.	UPI000006D344	SNV	MTFR1L,missense_variant,p.Ile260Val,ENST00000374307,;MTFR1L,missense_variant,p.Ile272Val,ENST00000374301,;MTFR1L,missense_variant,p.Ile272Val,ENST00000374303,;MTFR1L,missense_variant,p.Ile175Val,ENST00000524618,;MTFR1L,missense_variant,p.Ile272Val,ENST00000374300,;MTFR1L,3_prime_UTR_variant,,ENST00000466284,;AUNIP,3_prime_UTR_variant,,ENST00000538789,;MTFR1L,3_prime_UTR_variant,,ENST00000474295,;MTFR1L,downstream_gene_variant,,ENST00000526894,;AUNIP,downstream_gene_variant,,ENST00000374298,;MTFR1L,downstream_gene_variant,,ENST00000472643,;MTFR1L,downstream_gene_variant,,ENST00000526158,;MTFR1L,downstream_gene_variant,,ENST00000424294,;RP1-317E23.7,non_coding_transcript_exon_variant,,ENST00000606617,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000469815,;AUNIP,downstream_gene_variant,,ENST00000481602,;MTFR1L,downstream_gene_variant,,ENST00000531361,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000497956,;MTFR1L,downstream_gene_variant,,ENST00000464008,;MTFR1L,downstream_gene_variant,,ENST00000478284,;	1122	125	114	SUCCESS
PIK3R3	8503	.	GRCh37	1	46531740	46531740	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780398048	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	70	0	ENST00000262741.5:c.607A>G	p.Thr203Ala	p.T203A	ENST00000262741	NM_003629.3	203	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS529.1	607	RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGTATATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10155	.	.	ENSP00000262741	.	5/10	.	.	.	.	.	.	.	.	rs780398048	5/10	PASS	ENST00000262741	Transcript	.	.	ENSG00000117461	8981	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.267)	.	deleterious(0.04)	.	P55G_HUMAN	PIK3R3	HGNC	Q9UMI3_HUMAN,Q5T4P3_HUMAN	.	UPI000013D318	SNV	PIK3R3,missense_variant,p.Thr203Ala,ENST00000372006,;PIK3R3,missense_variant,p.Thr203Ala,ENST00000423209,;PIK3R3,missense_variant,p.Thr203Ala,ENST00000420542,;PIK3R3,missense_variant,p.Thr203Ala,ENST00000425892,;PIK3R3,missense_variant,p.Thr203Ala,ENST00000262741,;PIK3R3,missense_variant,p.Thr167Ala,ENST00000340332,;PIK3R3,missense_variant,p.Thr249Ala,ENST00000540385,;PIK3R3,missense_variant,p.Thr203Ala,ENST00000354242,;PIK3R3,non_coding_transcript_exon_variant,,ENST00000493202,;	1297	70	101	SUCCESS
ZCCHC11	0	.	GRCh37	1	52943444	52943444	+	synonymous_variant	Silent	SNP	T	T	A	rs765446951	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	9	87	0	ENST00000257177.4:c.1959A>T	p.Val653=	p.V653=	ENST00000257177		653	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30715.1	1959	MUTECT|MUSE|VARSCANS	.	ATCCGTACACA	NONE	byFrequency	.	hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF49,Pfam_domain:PF03828,Superfamily_domains:SSF81631	.	.	ENSP00000257177	.	12/30	.	.	.	.	.	.	.	.	rs765446951	12/30	PASS	ENST00000257177	Transcript	.	.	ENSG00000134744	28981	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TUT4_HUMAN	ZCCHC11	HGNC	H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN	.	UPI00001D7D0C	SNV	ZCCHC11,synonymous_variant,p.%3D,ENST00000257177,;ZCCHC11,synonymous_variant,p.%3D,ENST00000484723,;ZCCHC11,synonymous_variant,p.%3D,ENST00000528642,;ZCCHC11,synonymous_variant,p.%3D,ENST00000371544,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000371541,;ZCCHC11,3_prime_UTR_variant,,ENST00000473856,;	2104	87	105	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55130862	55130862	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	198	124	233	1	ENST00000414150.2:c.1254A>G	p.Ser418=	p.S418=	ENST00000414150		418	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS41342.2	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCATGCCT	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9	.	.	ENSP00000396622	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,synonymous_variant,p.%3D,ENST00000395690,;MROH7,synonymous_variant,p.%3D,ENST00000421030,;MROH7,synonymous_variant,p.%3D,ENST00000339553,;MROH7,5_prime_UTR_variant,,ENST00000454855,;MROH7,5_prime_UTR_variant,,ENST00000409996,;MROH7,5_prime_UTR_variant,,ENST00000545244,;MROH7,non_coding_transcript_exon_variant,,ENST00000478097,;MROH7,downstream_gene_variant,,ENST00000472987,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000414150,;MROH7,synonymous_variant,p.%3D,ENST00000438846,;MROH7,synonymous_variant,p.%3D,ENST00000413188,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000425300,;MROH7,synonymous_variant,p.%3D,ENST00000422659,;MROH7,synonymous_variant,p.%3D,ENST00000440047,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000606515,;MROH7,5_prime_UTR_variant,,ENST00000440217,;	1539	234	322	SUCCESS
GPR153	387509	.	GRCh37	1	6314095	6314095	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	32	181	0	ENST00000377893.2:c.469T>G	p.Tyr157Asp	p.Y157D	ENST00000377893	NM_207370.2	157	Tac/Gac	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS64.1	469	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTAGAAGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000367125	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000377893	Transcript	.	.	ENSG00000158292	23618	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GP153_HUMAN	GPR153	HGNC	.	.	UPI000040E9D7	SNV	GPR153,missense_variant,p.Tyr157Asp,ENST00000377893,;	729	181	152	SUCCESS
LEPR	3953	.	GRCh37	1	66081748	66081748	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	12	141	0	ENST00000349533.6:c.2053A>T	p.Thr685Ser	p.T685S	ENST00000349533	NM_002303.5	685	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS631.1	2053	MUTECT|MUSE	.	ATCATACTTCC	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF11,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000330393	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000349533	Transcript	.	.	ENSG00000116678	6554	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.244)	.	deleterious(0.04)	.	LEPR_HUMAN	LEPR	HGNC	L0I9J6_HUMAN,A2RRQ4_HUMAN	.	UPI000014C37B	SNV	LEPR,missense_variant,p.Thr685Ser,ENST00000349533,;LEPR,missense_variant,p.Thr685Ser,ENST00000344610,;LEPR,missense_variant,p.Thr685Ser,ENST00000371060,;LEPR,missense_variant,p.Thr685Ser,ENST00000371058,;LEPR,missense_variant,p.Thr685Ser,ENST00000371059,;LEPR,intron_variant,,ENST00000406510,;LEPR,upstream_gene_variant,,ENST00000471762,;	2238	141	225	SUCCESS
ZNHIT6	54680	.	GRCh37	1	86144381	86144381	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	15	102	0	ENST00000370574.3:c.1169+3A>T		p.X390_splice	ENST00000370574		390		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS707.1	.	RADIA|MUSE|VARSCANS	.	AAGCATACCTT	NONE	.	.	.	.	.	ENSP00000359606	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370574	Transcript	.	.	ENSG00000117174	26089	.	.	LOW	7/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BCD1_HUMAN	ZNHIT6	HGNC	.	.	UPI000006D8D2	SNV	ZNHIT6,splice_region_variant,,ENST00000431532,;ZNHIT6,splice_region_variant,,ENST00000370574,;	.	102	138	SUCCESS
CA6	765	.	GRCh37	1	9027785	9027785	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs760890660	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	575	227	555	0	ENST00000377443.2:c.639C>A	p.Tyr213Ter	p.Y213*	ENST00000377443	NM_001215.3	213	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS57970.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTACACCTA	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF17,hmmpanther:PTHR18952,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000366654	.	6/8	.	.	.	.	.	.	.	.	rs760890660	6/8	PASS	ENST00000377436	Transcript	.	.	ENSG00000131686	1380	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH6_HUMAN	CA6	HGNC	.	.	UPI00004CA0CB	SNV	CA6,stop_gained,p.Tyr213Ter,ENST00000377436,;CA6,stop_gained,p.Tyr213Ter,ENST00000377443,;CA6,stop_gained,p.Tyr153Ter,ENST00000377442,;CA6,stop_gained,p.Tyr181Ter,ENST00000549778,;CA6,non_coding_transcript_exon_variant,,ENST00000476083,;	639	555	802	SUCCESS
ZNF326	284695	.	GRCh37	1	90473063	90473063	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	16	137	0	ENST00000340281.4:c.369A>T	p.Gly123=	p.G123=	ENST00000340281	NM_182976.2	123	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS727.1	369	MUTECT|MUSE	.	TTCGGAGGTAG	NONE	.	.	hmmpanther:PTHR12190:SF1,hmmpanther:PTHR12190	.	.	ENSP00000340796	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000340281	Transcript	.	.	ENSG00000162664	14104	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN326_HUMAN	ZNF326	HGNC	.	.	UPI0000160AB2	SNV	ZNF326,synonymous_variant,p.%3D,ENST00000340281,;ZNF326,intron_variant,,ENST00000455342,;ZNF326,intron_variant,,ENST00000370447,;ZNF326,downstream_gene_variant,,ENST00000361911,;ZNF326,intron_variant,,ENST00000394583,;	512	137	205	SUCCESS
TGM6	343641	.	GRCh37	20	2397908	2397908	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	99	1	ENST00000202625.2:c.1367A>T	p.Lys456Met	p.K456M	ENST00000202625	NM_198994.2	456	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS13025.1	1367	MUTECT|MUSE	.	CAGCAAGGCGG	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	.	ENSP00000202625	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000202625	Transcript	1	.	ENSG00000166948	16255	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	TGM3L_HUMAN	TGM6	HGNC	.	.	UPI0000367011	SNV	TGM6,missense_variant,p.Lys456Met,ENST00000381423,;TGM6,missense_variant,p.Lys456Met,ENST00000202625,;	1428	100	96	SUCCESS
FOXS1	2307	.	GRCh37	20	30432787	30432787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149428291	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	63	0	ENST00000375978.3:c.559C>T	p.Arg187Trp	p.R187W	ENST00000375978	NM_004118.3	187	Cgg/Tgg	0	A:0.0002	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS13192.1	559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGAGGCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11829:SF68,hmmpanther:PTHR11829	A:0	A:0.0021	ENSP00000365145	A:0.002	1/1	.	.	.	.	.	.	.	.	rs149428291	1/1	common_in_exac	ENST00000375978	Transcript	.	A:0.0004	ENSG00000179772	3735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.72)	A:0	deleterious(0.01)	.	FOXS1_HUMAN	FOXS1	HGNC	.	.	UPI000003603C	SNV	FOXS1,missense_variant,p.Arg187Trp,ENST00000375978,;DUSP15,downstream_gene_variant,,ENST00000447647,;DUSP15,downstream_gene_variant,,ENST00000278979,;	634	63	41	SUCCESS
MYH7B	57644	.	GRCh37	20	33582028	33582028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	107	269	0	ENST00000262873.7:c.2650A>G	p.Lys884Glu	p.K884E	ENST00000262873	NM_020884.3	884	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS42869.1	2650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAAGATG	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Gene3D:1wdcA00,Superfamily_domains:SSF52540	.	.	ENSP00000262873	.	25/43	.	.	.	.	.	.	.	.	.	25/43	PASS	ENST00000262873	Transcript	1	.	ENSG00000078814	15906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	MYH7B_HUMAN	MYH7B	HGNC	.	.	UPI0000253BD4	SNV	MYH7B,missense_variant,p.Lys884Glu,ENST00000262873,;MIR499A,downstream_gene_variant,,ENST00000384903,;	2742	269	295	SUCCESS
AURKA	6790	.	GRCh37	20	54961584	54961584	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	8	93	0	ENST00000312783.6:c.48A>T	p.Thr16=	p.T16=	ENST00000312783	NM_198436.1	16	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13451.1	48	MUTECT|MUSE	.	GGAGCTGTAGC	NONE	.	.	.	.	.	ENSP00000379245	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000395909	Transcript	.	.	ENSG00000087586	11393	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AURKA_HUMAN	AURKA	HGNC	Q5QPD4_HUMAN,Q5QPD2_HUMAN,Q5QPD1_HUMAN,A3KFJ2_HUMAN,A3KFJ1_HUMAN	.	UPI000013C70F	SNV	AURKA,synonymous_variant,p.%3D,ENST00000395909,;AURKA,synonymous_variant,p.%3D,ENST00000395913,;AURKA,synonymous_variant,p.%3D,ENST00000456249,;AURKA,synonymous_variant,p.%3D,ENST00000420474,;AURKA,synonymous_variant,p.%3D,ENST00000422322,;AURKA,synonymous_variant,p.%3D,ENST00000347343,;AURKA,synonymous_variant,p.%3D,ENST00000371356,;AURKA,synonymous_variant,p.%3D,ENST00000395915,;AURKA,synonymous_variant,p.%3D,ENST00000441357,;AURKA,synonymous_variant,p.%3D,ENST00000395907,;AURKA,synonymous_variant,p.%3D,ENST00000395911,;AURKA,synonymous_variant,p.%3D,ENST00000395914,;AURKA,synonymous_variant,p.%3D,ENST00000451915,;AURKA,synonymous_variant,p.%3D,ENST00000312783,;	614	93	120	SUCCESS
DNAJC5	80331	.	GRCh37	20	62562355	62562355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	8	137	0	ENST00000360864.4:c.473A>T	p.Gln158Leu	p.Q158L	ENST00000360864	NM_025219.2	158	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13546.1	473	MUTECT|MUSE	.	GGCACAGCTGC	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF135	.	.	ENSP00000354111	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000360864	Transcript	1	.	ENSG00000101152	16235	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.339)	.	deleterious(0)	.	DNJC5_HUMAN	DNAJC5	HGNC	Q8TET0_HUMAN,Q6AHX3_HUMAN	.	UPI000012943C	SNV	DNAJC5,missense_variant,p.Gln158Leu,ENST00000369911,;DNAJC5,missense_variant,p.Gln158Leu,ENST00000360864,;DNAJC5,missense_variant,p.Gln158Leu,ENST00000470551,;	626	137	129	SUCCESS
DSCAM	1826	.	GRCh37	21	41384983	41384983	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200591095	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	153	0	ENST00000400454.1:c.6017C>T	p.Ala2006Val	p.A2006V	ENST00000400454	NM_001271534.1	2006	gCa/gTa	0	.	C:0.0008	.	C:0	.	A	A/V	protein_coding	YES	CCDS42929.1	6017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGCGTAA	NONE	byCluster|by1000G	.	.	C:0	.	ENSP00000383303	C:0	33/33	.	.	.	.	.	.	.	.	rs200591095	33/33	PASS	ENST00000400454	Transcript	.	C:0.0002	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	C:0	deleterious_low_confidence(0.01)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Ala1740Val,ENST00000404019,;DSCAM,missense_variant,p.Ala2006Val,ENST00000400454,;	6495	153	122	SUCCESS
DSCAM	1826	.	GRCh37	21	41384984	41384984	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs781716602	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	153	0	ENST00000400454.1:c.6016G>C	p.Ala2006Pro	p.A2006P	ENST00000400454	NM_001271534.1	2006	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS42929.1	6016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCGTAAG	NONE	byFrequency	.	.	.	.	ENSP00000383303	.	33/33	.	.	.	.	.	.	.	.	rs781716602,COSM1414127	33/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.031)	.	deleterious_low_confidence(0.01)	0,1	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Ala1740Pro,ENST00000404019,;DSCAM,missense_variant,p.Ala2006Pro,ENST00000400454,;	6494	153	123	SUCCESS
UMODL1	89766	.	GRCh37	21	43505473	43505473	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs941201801	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	113	0	ENST00000408910.2:c.554A>T	p.Gln185Leu	p.Q185L	ENST00000408910	NM_001004416.2	185	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS42935.1	554	MUTECT|MUSE	.	ACTCCAGCAAG	NONE	.	.	hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	.	.	ENSP00000386126	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.145)	.	tolerated(0.32)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Gln113Leu,ENST00000400424,;UMODL1,missense_variant,p.Gln113Leu,ENST00000400427,;UMODL1,missense_variant,p.Gln185Leu,ENST00000408910,;UMODL1,missense_variant,p.Gln185Leu,ENST00000408989,;UMODL1,missense_variant,p.Gln21Leu,ENST00000466434,;UMODL1,missense_variant,p.Gln21Leu,ENST00000497243,;UMODL1,missense_variant,p.Gln21Leu,ENST00000468982,;UMODL1,missense_variant,p.Gln21Leu,ENST00000491559,;UMODL1,missense_variant,p.Gln21Leu,ENST00000400421,;UMODL1,missense_variant,p.Gln21Leu,ENST00000485357,;	554	113	103	SUCCESS
NEFH	4744	.	GRCh37	22	29885288	29885292	+	frameshift_variant	Frame_Shift_Del	DEL	AGCAA	AGCAA	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	AGCAA	AGCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	119	34	263	0	ENST00000310624.6:c.1661_1665del	p.Ala554GlyfsTer8	p.A554Gfs*8	ENST00000310624	NM_021076.3	553	ccAGCAAag/ccag	0	.	.	.	.	.	-	PAK/PX	protein_coding	YES	CCDS13858.1	1659-1663	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTCCAGCAAAGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214	.	.	ENSP00000311997	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310624	Transcript	.	.	ENSG00000100285	7737	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFH_HUMAN	NEFH	HGNC	.	.	UPI00001AEF71	deletion	NEFH,frameshift_variant,p.Ala554GlyfsTer8,ENST00000310624,;	1692-1696	263	153	SUCCESS
HMOX1	3162	.	GRCh37	22	35789564	35789564	+	synonymous_variant	Silent	SNP	A	A	T	rs140740892	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	7	154	0	ENST00000216117.8:c.840A>T	p.Thr280=	p.T280=	ENST00000216117	NM_002133.2	280	acA/acT	0	G:0.0086	G:0.0113	.	G:0	.	T	T	protein_coding	YES	CCDS13914.1	840	MUTECT|MUSE	.	GCGACAGTTGC	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10720,hmmpanther:PTHR10720:SF1	G:0	G:0	ENSP00000216117	G:0	5/5	.	.	.	.	.	.	.	.	rs140740892	5/5	PASS	ENST00000216117	Transcript	.	G:0.0030	ENSG00000100292	5013	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	HMOX1_HUMAN	HMOX1	HGNC	Q6FH11_HUMAN,D2K7W4_HUMAN,B1AHA8_HUMAN	.	UPI000012CAA8	SNV	HMOX1,synonymous_variant,p.%3D,ENST00000216117,;HMOX1,downstream_gene_variant,,ENST00000494998,;	1179	154	122	SUCCESS
EIF3D	8664	.	GRCh37	22	36919311	36919311	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	8	88	0	ENST00000216190.8:c.410A>T	p.Gln137Leu	p.Q137L	ENST00000216190	NM_003753.3	137	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13930.1	410	MUTECT|MUSE	.	TTTTCTGCAGT	NONE	.	.	HAMAP:MF_03003,hmmpanther:PTHR12399,Pfam_domain:PF05091,PIRSF_domain:PIRSF016281	.	.	ENSP00000216190	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000216190	Transcript	.	.	ENSG00000100353	3278	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.39)	.	EIF3D_HUMAN	EIF3D	HGNC	B4E1K8_HUMAN,B0QYA8_HUMAN,B0QYA6_HUMAN,B0QYA5_HUMAN,B0QYA4_HUMAN,B0QYA3_HUMAN,A8MWD3_HUMAN	.	UPI000012D306	SNV	EIF3D,missense_variant,p.Gln137Leu,ENST00000457241,;EIF3D,missense_variant,p.Gln137Leu,ENST00000455547,;EIF3D,missense_variant,p.Gln137Leu,ENST00000216190,;EIF3D,missense_variant,p.Gln137Leu,ENST00000405442,;EIF3D,missense_variant,p.Gln137Leu,ENST00000432675,;EIF3D,missense_variant,p.Gln88Leu,ENST00000541106,;EIF3D,downstream_gene_variant,,ENST00000402116,;EIF3D,downstream_gene_variant,,ENST00000496875,;EIF3D,upstream_gene_variant,,ENST00000458572,;	781	88	100	SUCCESS
ACO2	50	.	GRCh37	22	41911430	41911430	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	11	108	0	ENST00000216254.4:c.575A>T	p.Asp192Val	p.D192V	ENST00000216254	NM_001098.2	192	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS14017.1	575	MUTECT|MUSE|VARSCANS	.	CACTGACTCCC	NONE	.	.	hmmpanther:PTHR11670:SF30,hmmpanther:PTHR11670,TIGRFAM_domain:TIGR01340,Gene3D:3.30.499.10,Pfam_domain:PF00330,Superfamily_domains:SSF53732,Prints_domain:PR00415	.	.	ENSP00000216254	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000216254	Transcript	.	.	ENSG00000100412	118	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	ACON_HUMAN	ACO2	HGNC	B4DZ08_HUMAN,B4DEC3_HUMAN	.	UPI000003CA3B	SNV	ACO2,missense_variant,p.Asp192Val,ENST00000216254,;ACO2,missense_variant,p.Asp192Val,ENST00000396512,;ACO2,upstream_gene_variant,,ENST00000466237,;ACO2,upstream_gene_variant,,ENST00000481310,;ACO2,downstream_gene_variant,,ENST00000471094,;ACO2,non_coding_transcript_exon_variant,,ENST00000478010,;ACO2,downstream_gene_variant,,ENST00000482208,;	597	108	132	SUCCESS
MEI1	150365	.	GRCh37	22	42099396	42099396	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	109	0	ENST00000401548.3:c.236T>A	p.Leu79Gln	p.L79Q	ENST00000401548	NM_152513.3	79	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46718.1	236	MUTECT|MUSE	.	CTCCCTGGTCA	NONE	.	.	hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10	.	.	ENSP00000384115	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000401548	Transcript	.	.	ENSG00000167077	28613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.533)	.	tolerated(0.07)	.	MEI1_HUMAN	MEI1	HGNC	.	.	UPI00006E232C	SNV	MEI1,missense_variant,p.Leu79Gln,ENST00000401548,;MEI1,5_prime_UTR_variant,,ENST00000300398,;MEI1,5_prime_UTR_variant,,ENST00000540833,;MEI1,5_prime_UTR_variant,,ENST00000400107,;	276	109	92	SUCCESS
ZBED4	9889	.	GRCh37	22	50278080	50278104	+	frameshift_variant	Frame_Shift_Del	DEL	ACCTCCCTGCTCTCCATTACGATGA	ACCTCCCTGCTCTCCATTACGATGA	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	ACCTCCCTGCTCTCCATTACGATGA	ACCTCCCTGCTCTCCATTACGATGA	.	.	.	.	.	.	.	.	.	.	.	.	.	101	25	141	0	ENST00000216268.5:c.774_798del	p.Pro259GlnfsTer4	p.P259Qfs*4	ENST00000216268	NM_014838.2	257	cACCTCCCTGCTCTCCATTACGATGAa/ca	0	.	.	.	.	.	-	HLPALHYDE/X	protein_coding	YES	CCDS33677.1	770-794	INDELOCATOR|VARSCANI	.	CTCCCCACCTCCCTGCTCTCCATTACGATGAACCTG	NONE	.	.	hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF6	.	.	ENSP00000216268	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000216268	Transcript	.	.	ENSG00000100426	20721	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBED4_HUMAN	ZBED4	HGNC	.	.	UPI000013C6DB	deletion	ZBED4,frameshift_variant,p.Pro259GlnfsTer4,ENST00000216268,;	1247-1271	141	126	SUCCESS
SHANK3	85358	.	GRCh37	22	51121840	51121840	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	11	176	1	ENST00000262795.3:c.958T>A	p.Phe320Ile	p.F320I	ENST00000262795	NM_033517.1	320	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	.	958	MUTECT|MUSE	.	CAGCCTTCCAG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000442518	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000262795	Transcript	.	.	ENSG00000251322	14294	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	.	SHANK3	HGNC	F8TCV3_HUMAN,F2Z3L0_HUMAN	.	UPI0000DD85FB	SNV	SHANK3,missense_variant,p.Phe320Ile,ENST00000262795,;SHANK3,missense_variant,p.Phe320Ile,ENST00000445220,;SHANK3,missense_variant,p.Phe320Ile,ENST00000414786,;	958	177	168	SUCCESS
MAP4K4	9448	.	GRCh37	2	102483701	102483701	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1179532178	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	29	134	0	ENST00000347699.4:c.2150C>G	p.Ser717Cys	p.S717C	ENST00000347699	NM_145687.3	717	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS56130.1	2150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCTCAGC	NONE	.	.	hmmpanther:PTHR24361:SF225,hmmpanther:PTHR24361	.	.	ENSP00000314363	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000347699	Transcript	.	.	ENSG00000071054	6866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	tolerated_low_confidence(0.05)	.	M4K4_HUMAN	MAP4K4	HGNC	Q53TW0_HUMAN,E7ETN6_HUMAN	.	UPI00000747E2	SNV	MAP4K4,missense_variant,p.Ser516Cys,ENST00000456652,;MAP4K4,missense_variant,p.Ser717Cys,ENST00000347699,;MAP4K4,missense_variant,p.Ser686Cys,ENST00000425019,;MAP4K4,missense_variant,p.Ser517Cys,ENST00000302217,;MAP4K4,missense_variant,p.Ser633Cys,ENST00000350198,;MAP4K4,missense_variant,p.Ser632Cys,ENST00000413150,;MAP4K4,missense_variant,p.Ser534Cys,ENST00000421882,;MAP4K4,missense_variant,p.Ser690Cys,ENST00000350878,;MAP4K4,missense_variant,p.Ser795Cys,ENST00000324219,;MAP4K4,missense_variant,p.Ser648Cys,ENST00000417294,;MAP4K4,downstream_gene_variant,,ENST00000418101,;MAP4K4,upstream_gene_variant,,ENST00000498066,;MAP4K4,non_coding_transcript_exon_variant,,ENST00000477711,;MAP4K4,upstream_gene_variant,,ENST00000491743,;MAP4K4,downstream_gene_variant,,ENST00000476609,;	2150	134	115	SUCCESS
LPIN1	23175	.	GRCh37	2	11913775	11913775	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	68	0	ENST00000256720.2:c.626A>T	p.Gln209Leu	p.Q209L	ENST00000256720	NM_145693.2	209	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS58699.1	773	MUTECT|MUSE	.	ATTCCAAGATG	NONE	.	.	hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181	.	.	ENSP00000397908	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000449576	Transcript	.	.	ENSG00000134324	13345	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.31)	.	.	LPIN1	HGNC	F5GY24_HUMAN,C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN	.	UPI0002064F62	SNV	LPIN1,missense_variant,p.Gln215Leu,ENST00000396099,;LPIN1,missense_variant,p.Gln258Leu,ENST00000449576,;LPIN1,missense_variant,p.Gln209Leu,ENST00000256720,;LPIN1,missense_variant,p.Gln215Leu,ENST00000425416,;LPIN1,missense_variant,p.Gln215Leu,ENST00000396098,;LPIN1,upstream_gene_variant,,ENST00000396097,;	826	68	54	SUCCESS
MYO7B	4648	.	GRCh37	2	128334177	128334177	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	49	0	ENST00000409816.2:c.743A>T	p.Glu248Val	p.E248V	ENST00000409816		248	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS46405.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGAGGAGC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF352,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000415090	.	8/47	.	.	.	.	.	.	.	.	.	8/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0.01)	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,missense_variant,p.Glu248Val,ENST00000389524,;MYO7B,missense_variant,p.Glu248Val,ENST00000409816,;MYO7B,missense_variant,p.Glu248Val,ENST00000428314,;	796	49	44	SUCCESS
ZEB2	9839	.	GRCh37	2	145155986	145155986	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	89	306	0	ENST00000409487.3:c.2768A>T	p.Tyr923Phe	p.Y923F	ENST00000409487		923	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS2186.1	2768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGTATGGT	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.484)	.	tolerated(0.3)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Tyr899Phe,ENST00000539609,;ZEB2,missense_variant,p.Tyr923Phe,ENST00000409487,;ZEB2,missense_variant,p.Tyr923Phe,ENST00000303660,;ZEB2,missense_variant,p.Tyr923Phe,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;	3953	306	282	SUCCESS
SCN2A	6326	.	GRCh37	2	166245904	166245904	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	256	84	367	1	ENST00000283256.6:c.5588A>T	p.Lys1863Met	p.K1863M	ENST00000283256	NM_021007.2	1863	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS33313.1	5588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAAGCGTG	NONE	.	.	hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037	.	.	ENSP00000349973	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,missense_variant,p.Lys1863Met,ENST00000283256,;SCN2A,missense_variant,p.Lys1863Met,ENST00000375437,;SCN2A,missense_variant,p.Lys1863Met,ENST00000375427,;SCN2A,missense_variant,p.Lys1863Met,ENST00000357398,;	5878	368	340	SUCCESS
SCN1A	6323	.	GRCh37	2	166897947	166897947	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	38	0	ENST00000303395.4:c.2209T>A	p.Cys737Ser	p.C737S	ENST00000303395		737	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS54413.1	2209	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACAGGGTG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	.	ENSP00000303540	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.884)	.	deleterious(0.01)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Cys709Ser,ENST00000409050,;SCN1A,missense_variant,p.Cys737Ser,ENST00000423058,;SCN1A,missense_variant,p.Cys737Ser,ENST00000303395,;SCN1A,missense_variant,p.Cys726Ser,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;	2209	38	59	SUCCESS
SCN9A	6335	.	GRCh37	2	167163108	167163108	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	94	0	ENST00000303354.6:c.382T>G	p.Leu128Val	p.L128V	ENST00000303354		128	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS46441.1	379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGGTAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated(0.11)	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,missense_variant,p.Leu128Val,ENST00000375387,;SCN9A,missense_variant,p.Leu127Val,ENST00000409435,;SCN9A,missense_variant,p.Leu127Val,ENST00000409672,;SCN9A,missense_variant,p.Leu128Val,ENST00000303354,;SCN9A,upstream_gene_variant,,ENST00000452182,;SCN9A,upstream_gene_variant,,ENST00000454569,;AC010127.3,downstream_gene_variant,,ENST00000447809,;SCN9A,upstream_gene_variant,,ENST00000472119,;	726	94	70	SUCCESS
ITGA6	3655	.	GRCh37	2	173344405	173344405	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	102	0	ENST00000442250.1:c.1542A>T	p.Thr514=	p.T514=	ENST00000442250		514	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46451.1	1425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACAGTAAC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF9,hmmpanther:PTHR23220,Gene3D:1jv2A02,Pfam_domain:PF08441,SMART_domains:SM00191,Superfamily_domains:SSF69179,Prints_domain:PR01185	.	.	ENSP00000386896	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000409080	Transcript	.	.	ENSG00000091409	6142	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA6_HUMAN	ITGA6	HGNC	C9JXX7_HUMAN	.	UPI0000EA87E5	SNV	ITGA6,synonymous_variant,p.%3D,ENST00000458358,;ITGA6,synonymous_variant,p.%3D,ENST00000442250,;ITGA6,synonymous_variant,p.%3D,ENST00000264106,;ITGA6,synonymous_variant,p.%3D,ENST00000375221,;ITGA6,synonymous_variant,p.%3D,ENST00000343713,;ITGA6,synonymous_variant,p.%3D,ENST00000409532,;ITGA6,synonymous_variant,p.%3D,ENST00000264107,;ITGA6,synonymous_variant,p.%3D,ENST00000409080,;ITGA6,downstream_gene_variant,,ENST00000412899,;AC093818.1,downstream_gene_variant,,ENST00000442417,;	1425	102	75	SUCCESS
TTN	7273	.	GRCh37	2	179433349	179433349	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752618930	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	242	26	251	0	ENST00000591111.1:c.72587C>T	p.Pro24196Leu	p.P24196L	ENST00000591111		24196	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS59435.1	77510	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGGGAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	COSM1529207,COSM1529206,COSM1529203,COSM1529205,COSM1529204	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Pro16897Leu,ENST00000359218,;TTN,missense_variant,p.Pro24196Leu,ENST00000591111,;TTN,missense_variant,p.Pro25837Leu,ENST00000589042,;TTN,missense_variant,p.Pro16964Leu,ENST00000342175,;TTN,missense_variant,p.Pro23269Leu,ENST00000342992,;TTN,missense_variant,p.Pro16772Leu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	77735	251	268	SUCCESS
NCKAP1	10787	.	GRCh37	2	183799524	183799524	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs144468405	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	110	0	ENST00000361354.4:c.2815A>G	p.Ile939Val	p.I939V	ENST00000361354		939	Att/Gtt	0	C:0.0011	C:0.0008	.	C:0	.	C	I/V	protein_coding	YES	CCDS2288.1	2833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATTGAAC	NONE	byCluster|by1000G	.	Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11	C:0	C:0	ENSP00000354251	C:0	27/32	.	.	.	.	.	.	.	.	rs144468405	27/32	PASS	ENST00000360982	Transcript	.	C:0.0002	ENSG00000061676	7666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	C:0	tolerated(0.24)	.	NCKP1_HUMAN	NCKAP1	HGNC	.	.	UPI00001693F2	SNV	NCKAP1,missense_variant,p.Ile945Val,ENST00000360982,;NCKAP1,missense_variant,p.Ile939Val,ENST00000361354,;NCKAP1,non_coding_transcript_exon_variant,,ENST00000471640,;NCKAP1,non_coding_transcript_exon_variant,,ENST00000478449,;NCKAP1,non_coding_transcript_exon_variant,,ENST00000492058,;	3592	110	101	SUCCESS
UNC80	285175	.	GRCh37	2	210782504	210782504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	35	113	0	ENST00000439458.1:c.4835C>T	p.Ala1612Val	p.A1612V	ENST00000439458	NM_032504.1	1612	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46504.1	4835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCATGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	31/64	.	.	.	.	.	.	.	.	.	31/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Ala1612Val,ENST00000439458,;UNC80,missense_variant,p.Ala1607Val,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	4915	113	112	SUCCESS
FN1	2335	.	GRCh37	2	216261912	216261912	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	74	0	ENST00000359671.1:c.3552A>G	p.Ala1184=	p.A1184=	ENST00000359671		1184	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS42814.1	3552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTTGCCTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	23/46	.	.	.	.	.	.	.	.	.	23/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,synonymous_variant,p.%3D,ENST00000357867,;FN1,synonymous_variant,p.%3D,ENST00000432072,;FN1,synonymous_variant,p.%3D,ENST00000421182,;FN1,synonymous_variant,p.%3D,ENST00000443816,;FN1,synonymous_variant,p.%3D,ENST00000346544,;FN1,synonymous_variant,p.%3D,ENST00000345488,;FN1,synonymous_variant,p.%3D,ENST00000354785,;FN1,synonymous_variant,p.%3D,ENST00000336916,;FN1,synonymous_variant,p.%3D,ENST00000359671,;FN1,synonymous_variant,p.%3D,ENST00000357009,;FN1,synonymous_variant,p.%3D,ENST00000446046,;FN1,synonymous_variant,p.%3D,ENST00000323926,;FN1,synonymous_variant,p.%3D,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000492816,;	3922	74	64	SUCCESS
CCDC108	0	.	GRCh37	2	219897276	219897276	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	47	232	0	ENST00000341552.5:c.561C>T	p.Phe187=	p.F187=	ENST00000341552	NM_194302.3	187	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS2430.2	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGAACTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	6/35	.	.	.	.	.	.	.	.	.	6/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,synonymous_variant,p.%3D,ENST00000457968,;CCDC108,synonymous_variant,p.%3D,ENST00000410037,;CCDC108,synonymous_variant,p.%3D,ENST00000441968,;CCDC108,synonymous_variant,p.%3D,ENST00000453220,;CCDC108,synonymous_variant,p.%3D,ENST00000409865,;CCDC108,synonymous_variant,p.%3D,ENST00000341552,;CCDC108,downstream_gene_variant,,ENST00000324264,;CCDC108,downstream_gene_variant,,ENST00000458526,;CCDC108,downstream_gene_variant,,ENST00000436631,;CCDC108,downstream_gene_variant,,ENST00000295729,;CCDC108,non_coding_transcript_exon_variant,,ENST00000462848,;CCDC108,intron_variant,,ENST00000463683,;CCDC108,upstream_gene_variant,,ENST00000474601,;	645	232	178	SUCCESS
SPEG	10290	.	GRCh37	2	220333737	220333737	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	94	0	ENST00000312358.7:c.3458T>A	p.Val1153Glu	p.V1153E	ENST00000312358	NM_005876.4	1153	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS42824.1	3458	RADIA|MUTECT|MUSE|VARSCANS	.	GTATGTAGAAG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	12/41	.	.	.	.	.	.	.	.	.	12/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Val1153Glu,ENST00000312358,;SPEG,downstream_gene_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000396688,;SPEG,downstream_gene_variant,,ENST00000396686,;SPEG,downstream_gene_variant,,ENST00000396689,;SPEG,downstream_gene_variant,,ENST00000396698,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000498378,;SPEG,downstream_gene_variant,,ENST00000496786,;SPEG,downstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000464989,;SPEG,downstream_gene_variant,,ENST00000475921,;SPEG,upstream_gene_variant,,ENST00000485069,;	3590	94	71	SUCCESS
DNER	92737	.	GRCh37	2	230377533	230377533	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	217	13	238	1	ENST00000341772.4:c.1113A>T	p.Gln371His	p.Q371H	ENST00000341772	NM_139072.3	371	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS33390.1	1113	MUTECT|MUSE	.	CCATCTTGCTT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000345229	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.8)	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,missense_variant,p.Gln371His,ENST00000341772,;	1248	239	230	SUCCESS
NCL	4691	.	GRCh37	2	232326345	232326345	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	16	241	0	ENST00000322723.4:c.519A>T	p.Ala173=	p.A173=	ENST00000322723	NM_005381.2	173	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33397.1	519	MUTECT|MUSE|VARSCANS	.	ATCGCTGCTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000318195	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000322723	Transcript	.	.	ENSG00000115053	7667	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NUCL_HUMAN	NCL	HGNC	C9JYW2_HUMAN,C9JWL1_HUMAN,C9JLB1_HUMAN,C9J1H7_HUMAN,B3KM80_HUMAN	.	UPI0000456F25	SNV	NCL,synonymous_variant,p.%3D,ENST00000454824,;NCL,synonymous_variant,p.%3D,ENST00000417652,;NCL,synonymous_variant,p.%3D,ENST00000322723,;NCL,upstream_gene_variant,,ENST00000356936,;NCL,downstream_gene_variant,,ENST00000436894,;NCL,downstream_gene_variant,,ENST00000453992,;SNORD82,upstream_gene_variant,,ENST00000365530,;NCL,non_coding_transcript_exon_variant,,ENST00000461347,;NCL,downstream_gene_variant,,ENST00000484328,;NCL,upstream_gene_variant,,ENST00000494618,;NCL,upstream_gene_variant,,ENST00000466274,;	760	241	184	SUCCESS
ALK	238	.	GRCh37	2	29416521	29416521	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	64	238	0	ENST00000389048.3:c.4432A>G	p.Met1478Val	p.M1478V	ENST00000389048	NM_004304.4	1478	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS33172.1	4432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATATTCA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276	.	.	ENSP00000373700	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.55)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Met1478Val,ENST00000389048,;ALK,missense_variant,p.Met308Val,ENST00000431873,;CLIP4,downstream_gene_variant,,ENST00000401617,;	5339	238	208	SUCCESS
SRD5A2	6716	.	GRCh37	2	31756443	31756443	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	75	0	ENST00000405650.1:n.711A>T		p.X237_splice	ENST00000405650		237		0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|MUSE	.	TACCTTGTGGA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435713	Transcript	.	.	ENSG00000228563	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AL133247.2	Clone_based_vega_gene	.	.	.	SNV	AL133247.2,intron_variant,,ENST00000435713,;SRD5A2,splice_region_variant,,ENST00000233139,;SRD5A2,splice_region_variant,,ENST00000405650,;	.	75	65	SUCCESS
HNRNPLL	92906	.	GRCh37	2	38804603	38804603	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	78	241	0	ENST00000449105.3:c.874G>C	p.Gly292Arg	p.G292R	ENST00000449105		292	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS46261.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCATAGC	NONE	.	.	TIGRFAM_domain:TIGR01649,hmmpanther:PTHR11546:SF15,hmmpanther:PTHR11546	.	.	ENSP00000387088	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000409636	Transcript	.	.	ENSG00000143889	25127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.03)	.	HNRLL_HUMAN	HNRNPLL	HGNC	.	.	UPI000007462B	SNV	HNRNPLL,missense_variant,p.Gly292Arg,ENST00000449105,;HNRNPLL,missense_variant,p.Gly258Arg,ENST00000409328,;HNRNPLL,missense_variant,p.Gly258Arg,ENST00000378915,;HNRNPLL,missense_variant,p.Gly287Arg,ENST00000409636,;HNRNPLL,missense_variant,p.Gly292Arg,ENST00000608859,;HNRNPLL,downstream_gene_variant,,ENST00000358367,;HNRNPLL,downstream_gene_variant,,ENST00000410076,;HNRNPLL,splice_region_variant,,ENST00000272249,;HNRNPLL,downstream_gene_variant,,ENST00000488099,;	1021	241	268	SUCCESS
MAT2A	4144	.	GRCh37	2	85769144	85769144	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	6	84	0	ENST00000306434.3:c.549+49A>T		p.*183*	ENST00000306434	NM_005911.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1977.1	.	MUTECT|MUSE|VARSCANS	.	AGCACAGAAGA	NONE	.	.	.	.	.	ENSP00000303147	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306434	Transcript	.	.	ENSG00000168906	6904	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	METK2_HUMAN	MAT2A	HGNC	B4DN45_HUMAN,B4DEX8_HUMAN	.	UPI0000000C32	SNV	MAT2A,intron_variant,,ENST00000306434,;MAT2A,intron_variant,,ENST00000409017,;GGCX,downstream_gene_variant,,ENST00000233838,;MAT2A,non_coding_transcript_exon_variant,,ENST00000490878,;MAT2A,intron_variant,,ENST00000481412,;MAT2A,downstream_gene_variant,,ENST00000469221,;MAT2A,downstream_gene_variant,,ENST00000465151,;	.	84	81	SUCCESS
IGKV5-2	28907	.	GRCh37	2	89197018	89197018	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765604868	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	62	0	ENST00000390244.2:c.63A>T	p.Glu21Asp	p.E21D	ENST00000390244		21	gaA/gaT	0	.	.	.	.	.	T	E/D	IG_V_gene	YES	.	63	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAACGAC	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF117	.	.	ENSP00000374779	.	2/2	.	.	.	.	.	.	.	.	rs765604868	2/2	PASS	ENST00000390244	Transcript	.	.	ENSG00000211599	5835	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.076)	.	tolerated(1)	.	KV501_HUMAN	IGKV5-2	HGNC	.	.	UPI000012E167	SNV	IGKV5-2,missense_variant,p.Glu21Asp,ENST00000390244,;	126	62	49	SUCCESS
ANKRD36C	400986	.	GRCh37	2	96646531	96646531	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	41	170	0	ENST00000456556.1:c.596C>G	p.Ser199Ter	p.S199*	ENST00000456556		199	tCa/tGa	0	.	.	.	.	.	C	S/*	nonsense_mediated_decay	YES	.	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGATCTA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176,Gene3D:1.25.40.20,Pfam_domain:PF13637,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000431824	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000528268	Transcript	.	.	ENSG00000174501	32946	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKRD36C	HGNC	E9PJI0_HUMAN	.	UPI0001F78669	SNV	ANKRD36C,stop_gained,p.Ser199Ter,ENST00000456556,;ANKRD36C,stop_gained,p.Ser199Ter,ENST00000528268,;	681	171	154	SUCCESS
GPAT2	150763	.	GRCh37	2	96688872	96688872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	32	243	0	ENST00000359548.4:c.2131G>T	p.Gly711Cys	p.G711C	ENST00000359548	NM_207328.2	711	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS42714.1	2131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCTGGC	NONE	.	.	hmmpanther:PTHR12563:SF7,hmmpanther:PTHR12563	.	.	ENSP00000389395	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000434632	Transcript	.	.	ENSG00000186281	27168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	tolerated(0.19)	.	GPAT2_HUMAN	GPAT2	HGNC	C9JYV5_HUMAN	.	UPI0000E5E123	SNV	GPAT2,missense_variant,p.Gly711Cys,ENST00000359548,;GPAT2,missense_variant,p.Gly640Cys,ENST00000453542,;GPAT2,missense_variant,p.Gly711Cys,ENST00000434632,;GPAT2,intron_variant,,ENST00000377137,;FAHD2CP,non_coding_transcript_exon_variant,,ENST00000443258,;FAHD2CP,non_coding_transcript_exon_variant,,ENST00000467292,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;FAHD2CP,downstream_gene_variant,,ENST00000427863,;	2591	243	136	SUCCESS
TMEM127	55654	.	GRCh37	2	96919803	96919803	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	137	0	ENST00000258439.3:c.460A>G	p.Ile154Val	p.I154V	ENST00000258439	NM_001193304.2	154	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2018.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATGAGTT	NONE	.	.	.	.	.	ENSP00000258439	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000258439	Transcript	.	.	ENSG00000135956	26038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.25)	.	TM127_HUMAN	TMEM127	HGNC	C9J4H2_HUMAN	.	UPI000000D96F	SNV	TMEM127,missense_variant,p.Ile70Val,ENST00000435268,;TMEM127,missense_variant,p.Ile154Val,ENST00000258439,;TMEM127,missense_variant,p.Ile154Val,ENST00000432959,;	717	137	100	SUCCESS
CEP97	79598	.	GRCh37	3	101451370	101451370	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	32	194	0	ENST00000341893.3:c.600G>A	p.Leu200=	p.L200=	ENST00000341893		200	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2944.1	600	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGTCGAT	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058	.	.	ENSP00000342510	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000341893	Transcript	.	.	ENSG00000182504	26244	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CEP97_HUMAN	CEP97	HGNC	.	.	UPI0000074569	SNV	CEP97,synonymous_variant,p.%3D,ENST00000494050,;CEP97,synonymous_variant,p.%3D,ENST00000327230,;CEP97,synonymous_variant,p.%3D,ENST00000341893,;CEP97,upstream_gene_variant,,ENST00000462076,;CEP97,synonymous_variant,p.%3D,ENST00000467655,;CEP97,3_prime_UTR_variant,,ENST00000465011,;CEP97,non_coding_transcript_exon_variant,,ENST00000489172,;	1352	194	210	SUCCESS
TIMP4	7079	.	GRCh37	3	12195118	12195118	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	398	31	347	0	ENST00000287814.4:c.572A>T	p.Gln191Leu	p.Q191L	ENST00000287814	NM_003256.3	191	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2608.1	572	MUTECT|MUSE	.	GAGCCTGGTAA	NONE	.	.	hmmpanther:PTHR11844:SF8,hmmpanther:PTHR11844,Pfam_domain:PF00965,Gene3D:2e2dC01,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000287814	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000287814	Transcript	.	.	ENSG00000157150	11823	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TIMP4_HUMAN	TIMP4	HGNC	.	.	UPI0000136FA3	SNV	TIMP4,missense_variant,p.Gln191Leu,ENST00000287814,;SYN2,intron_variant,,ENST00000432424,;SYN2,intron_variant,,ENST00000426379,;SYN2,downstream_gene_variant,,ENST00000424884,;SYN2,intron_variant,,ENST00000439861,;	1083	347	430	SUCCESS
TIMP4	7079	.	GRCh37	3	12198366	12198366	+	synonymous_variant	Silent	SNP	A	A	G	rs771959850	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	46	125	0	ENST00000287814.4:c.306T>C	p.Cys102=	p.C102=	ENST00000287814	NM_003256.3	102	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS2608.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCACAGAG	NONE	.	.	PROSITE_profiles:PS50189,hmmpanther:PTHR11844:SF8,hmmpanther:PTHR11844,Pfam_domain:PF00965,Gene3D:2.40.50.120,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000287814	.	3/5	.	.	.	.	.	.	.	.	rs771959850	3/5	PASS	ENST00000287814	Transcript	.	.	ENSG00000157150	11823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIMP4_HUMAN	TIMP4	HGNC	.	.	UPI0000136FA3	SNV	TIMP4,synonymous_variant,p.%3D,ENST00000287814,;SYN2,intron_variant,,ENST00000432424,;SYN2,intron_variant,,ENST00000426379,;SYN2,upstream_gene_variant,,ENST00000447752,;SYN2,upstream_gene_variant,,ENST00000425297,;SYN2,intron_variant,,ENST00000439861,;	817	125	155	SUCCESS
KALRN	8997	.	GRCh37	3	124048793	124048793	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	69	219	0	ENST00000240874.3:c.1364A>T	p.His455Leu	p.H455L	ENST00000240874	NM_003947.4	455	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS3027.1	1364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCACCACC	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00150	.	.	ENSP00000240874	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.06)	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,missense_variant,p.His455Leu,ENST00000240874,;KALRN,missense_variant,p.His455Leu,ENST00000460856,;KALRN,missense_variant,p.His433Leu,ENST00000354186,;KALRN,missense_variant,p.His455Leu,ENST00000360013,;KALRN,upstream_gene_variant,,ENST00000439170,;KALRN,downstream_gene_variant,,ENST00000498499,;	1521	219	234	SUCCESS
ITGB5	3693	.	GRCh37	3	124592297	124592297	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	18	211	0	ENST00000296181.4:c.152A>T	p.Lys51Ile	p.K51I	ENST00000296181	NM_002213.3	51	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS3030.1	152	MUTECT|MUSE	.	CCTCTTTGGAG	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,SMART_domains:SM00423,Superfamily_domains:SSF103575	.	.	ENSP00000296181	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.797)	.	deleterious(0.01)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Lys51Ile,ENST00000296181,;ITGB5,5_prime_UTR_variant,,ENST00000608657,;ITGB5,5_prime_UTR_variant,,ENST00000608107,;ITGB5,5_prime_UTR_variant,,ENST00000483168,;ITGB5,5_prime_UTR_variant,,ENST00000465464,;	449	211	231	SUCCESS
MGLL	11343	.	GRCh37	3	127441397	127441397	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	102	227	0	ENST00000398104.1:c.245A>G	p.Gln82Arg	p.Q82R	ENST00000398104	NM_001003794.2	82	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS46902.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCTGTCCG	NONE	.	.	Prints_domain:PR00111,Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.12)	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,missense_variant,p.Gln92Arg,ENST00000265052,;MGLL,missense_variant,p.Gln92Arg,ENST00000453507,;MGLL,missense_variant,p.Gln19Arg,ENST00000493611,;MGLL,missense_variant,p.Gln82Arg,ENST00000398104,;MGLL,missense_variant,p.Gln6Arg,ENST00000484451,;MGLL,missense_variant,p.Gln6Arg,ENST00000487473,;MGLL,missense_variant,p.Gln56Arg,ENST00000398101,;MGLL,missense_variant,p.Gln82Arg,ENST00000434178,;MGLL,upstream_gene_variant,,ENST00000496306,;MGLL,non_coding_transcript_exon_variant,,ENST00000476654,;MGLL,non_coding_transcript_exon_variant,,ENST00000465597,;MGLL,non_coding_transcript_exon_variant,,ENST00000479967,;	815	227	295	SUCCESS
CAND2	23066	.	GRCh37	3	12856693	12856693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	69	230	0	ENST00000456430.2:c.1060G>T	p.Ala354Ser	p.A354S	ENST00000456430	NM_001162499.1	354	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS54554.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGGCAGCT	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.135)	.	tolerated(0.3)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Ala354Ser,ENST00000456430,;CAND2,missense_variant,p.Ala261Ser,ENST00000295989,;CAND2,downstream_gene_variant,,ENST00000446928,;	1101	230	171	SUCCESS
CPNE4	131034	.	GRCh37	3	131418758	131418758	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	8	76	0	ENST00000429747.1:c.427A>T	p.Ile143Phe	p.I143F	ENST00000429747	NM_130808.1	143	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS3072.1	427	MUTECT|MUSE|VARSCANS	.	CGTGATGGAAG	NONE	.	.	hmmpanther:PTHR10857:SF4,hmmpanther:PTHR10857,Superfamily_domains:SSF49562	.	.	ENSP00000421705	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000512055	Transcript	.	.	ENSG00000196353	2317	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.543)	.	deleterious(0.01)	.	CPNE4_HUMAN	CPNE4	HGNC	Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN	.	UPI0000127C14	SNV	CPNE4,missense_variant,p.Ile161Phe,ENST00000502818,;CPNE4,missense_variant,p.Ile143Phe,ENST00000429747,;CPNE4,missense_variant,p.Ile161Phe,ENST00000512332,;CPNE4,missense_variant,p.Ile143Phe,ENST00000505881,;CPNE4,missense_variant,p.Ile143Phe,ENST00000512055,;CPNE4,missense_variant,p.Ile143Phe,ENST00000511604,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;	2554	76	109	SUCCESS
ZIC4	84107	.	GRCh37	3	147108887	147108887	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	140	0	ENST00000383075.3:c.835A>T	p.Ser279Cys	p.S279C	ENST00000383075	NM_032153.5	279	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS54652.1	985	MUTECT|MUSE|VARSCANS	.	CGAGCTGGGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000435509	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000525172	Transcript	.	.	ENSG00000174963	20393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ZIC4_HUMAN	ZIC4	HGNC	C9JZU7_HUMAN,C9JD04_HUMAN,C9J6T3_HUMAN,B3KPI4_HUMAN	.	UPI0001914D88	SNV	ZIC4,missense_variant,p.Ser317Cys,ENST00000425731,;ZIC4,missense_variant,p.Ser279Cys,ENST00000473123,;ZIC4,missense_variant,p.Ser279Cys,ENST00000383075,;ZIC4,missense_variant,p.Ser73Cys,ENST00000491672,;ZIC4,missense_variant,p.Ser329Cys,ENST00000525172,;ZIC4,missense_variant,p.Ser279Cys,ENST00000484399,;ZIC1,upstream_gene_variant,,ENST00000488404,;ZIC4,downstream_gene_variant,,ENST00000462748,;ZIC4-AS1,downstream_gene_variant,,ENST00000462168,;ZIC4,non_coding_transcript_exon_variant,,ENST00000463850,;ZIC4,non_coding_transcript_exon_variant,,ENST00000475502,;ZIC4,non_coding_transcript_exon_variant,,ENST00000464502,;ZIC4,non_coding_transcript_exon_variant,,ENST00000472749,;ZIC1,upstream_gene_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000480015,;ZIC4,non_coding_transcript_exon_variant,,ENST00000493664,;ZIC4,non_coding_transcript_exon_variant,,ENST00000494569,;	1171	140	70	SUCCESS
FAM194A	0	.	GRCh37	3	150398678	150398678	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	6	78	0	ENST00000295910.6:c.922A>T	p.Ile308Phe	p.I308F	ENST00000295910	NM_152394.3	308	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS3151.2	922	MUTECT|MUSE|VARSCANS	.	ATAGATATAGT	NONE	.	.	hmmpanther:PTHR23093:SF11,hmmpanther:PTHR23093	.	.	ENSP00000295910	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000295910	Transcript	.	.	ENSG00000163645	28602	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	F194A_HUMAN	FAM194A	HGNC	.	.	UPI000023281A	SNV	FAM194A,missense_variant,p.Ile162Phe,ENST00000491361,;FAM194A,missense_variant,p.Ile308Phe,ENST00000295910,;FAM194A,non_coding_transcript_exon_variant,,ENST00000491716,;	975	78	75	SUCCESS
MRPS25	64432	.	GRCh37	3	15093970	15093970	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	11	142	0	ENST00000253686.2:c.500T>A	p.Leu167Gln	p.L167Q	ENST00000253686	NM_022497.3	167	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2622.1	500	MUTECT|MUSE	.	CTTTCAGAGCG	NONE	.	.	hmmpanther:PTHR13274:SF1,hmmpanther:PTHR13274	.	.	ENSP00000253686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000253686	Transcript	.	.	ENSG00000131368	14511	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.19)	.	RT25_HUMAN	MRPS25	HGNC	Q96Q22_HUMAN,E7EPW2_HUMAN	.	UPI00001352A0	SNV	MRPS25,missense_variant,p.Leu167Gln,ENST00000253686,;MRPS25,3_prime_UTR_variant,,ENST00000444840,;MRPS25,intron_variant,,ENST00000449354,;NR2C2,intron_variant,,ENST00000439011,;NR2C2,intron_variant,,ENST00000413194,;MRPS25,upstream_gene_variant,,ENST00000474866,;MRPS25,upstream_gene_variant,,ENST00000496484,;MRPS25,3_prime_UTR_variant,,ENST00000447299,;MRPS25,intron_variant,,ENST00000420267,;	641	142	169	SUCCESS
SI	6476	.	GRCh37	3	164786876	164786876	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	299	13	250	0	ENST00000264382.3:c.363A>T	p.Thr121=	p.T121=	ENST00000264382	NM_001041.3	121	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3196.1	363	MUTECT|MUSE	.	CTTGTTGTTGT	NONE	.	.	Superfamily_domains:SSF74650,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	4/48	.	.	.	.	.	.	.	.	.	4/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,synonymous_variant,p.%3D,ENST00000264382,;SI,3_prime_UTR_variant,,ENST00000476593,;	426	250	313	SUCCESS
TFRC	7037	.	GRCh37	3	195785461	195785461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	62	1	ENST00000360110.4:c.1579A>T	p.Asn527Tyr	p.N527Y	ENST00000360110	NM_001128148.1	527	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS3312.1	1579	MUTECT|MUSE	.	CCAGTTGCTGT	NONE	.	.	hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000353224	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000360110	Transcript	.	.	ENSG00000072274	11763	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TFR1_HUMAN	TFRC	HGNC	G3V0E5_HUMAN,F5H6B1_HUMAN	.	UPI0000049ADE	SNV	TFRC,missense_variant,p.Asn527Tyr,ENST00000360110,;TFRC,missense_variant,p.Asn527Tyr,ENST00000392396,;TFRC,missense_variant,p.Asn446Tyr,ENST00000420415,;TFRC,missense_variant,p.Asn245Tyr,ENST00000535031,;TFRC,3_prime_UTR_variant,,ENST00000540528,;TFRC,upstream_gene_variant,,ENST00000426789,;TFRC,non_coding_transcript_exon_variant,,ENST00000463356,;TFRC,non_coding_transcript_exon_variant,,ENST00000465288,;TFRC,non_coding_transcript_exon_variant,,ENST00000477148,;TFRC,non_coding_transcript_exon_variant,,ENST00000482479,;TFRC,non_coding_transcript_exon_variant,,ENST00000475593,;TFRC,non_coding_transcript_exon_variant,,ENST00000483983,;TFRC,upstream_gene_variant,,ENST00000463047,;TFRC,downstream_gene_variant,,ENST00000464368,;	1749	63	81	SUCCESS
KIAA0226	0	.	GRCh37	3	197427705	197427705	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	16	171	0	ENST00000296343.5:c.1040A>T	p.Glu347Val	p.E347V	ENST00000296343	NM_014687.1	347	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43195.1	1040	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCTCGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7	.	.	ENSP00000296343	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000296343	Transcript	.	.	ENSG00000145016	28991	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.098)	.	tolerated(0.2)	.	RUBIC_HUMAN	KIAA0226	HGNC	B4DIJ0_HUMAN	.	UPI00001C1DE4	SNV	KIAA0226,missense_variant,p.Glu347Val,ENST00000296343,;KIAA0226,missense_variant,p.Glu326Val,ENST00000413360,;KIAA0226,missense_variant,p.Glu287Val,ENST00000273582,;KIAA0226,missense_variant,p.Glu347Val,ENST00000389665,;KIAA0226,missense_variant,p.Glu347Val,ENST00000449205,;KIAA0226,missense_variant,p.Glu106Val,ENST00000415452,;KIAA0226,upstream_gene_variant,,ENST00000447048,;KIAA0226,downstream_gene_variant,,ENST00000467303,;KIAA0226,downstream_gene_variant,,ENST00000474214,;	1040	171	159	SUCCESS
SCN11A	11280	.	GRCh37	3	38945427	38945427	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749485211	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	217	110	333	0	ENST00000302328.3:c.1771A>T	p.Thr591Ser	p.T591S	ENST00000302328	NM_014139.2	591	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33737.1	1771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGTGTTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000307599	.	12/26	.	.	.	.	.	.	.	.	rs749485211	12/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,missense_variant,p.Thr591Ser,ENST00000450244,;SCN11A,missense_variant,p.Thr591Ser,ENST00000302328,;SCN11A,missense_variant,p.Thr591Ser,ENST00000444237,;SCN11A,missense_variant,p.Thr591Ser,ENST00000456224,;AC116038.1,upstream_gene_variant,,ENST00000401122,;	1970	334	327	SUCCESS
NKTR	4820	.	GRCh37	3	42674105	42674105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	65	0	ENST00000232978.8:c.563A>G	p.Lys188Arg	p.K188R	ENST00000232978	NM_005385.3	188	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2702.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAAAAGGA	NONE	.	.	hmmpanther:PTHR11071:SF30,hmmpanther:PTHR11071	.	.	ENSP00000232978	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000232978	Transcript	.	.	ENSG00000114857	7833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	.	NKTR_HUMAN	NKTR	HGNC	.	.	UPI00001301FD	SNV	NKTR,missense_variant,p.Lys188Arg,ENST00000232978,;RP4-613B23.1,non_coding_transcript_exon_variant,,ENST00000434363,;RP4-613B23.1,intron_variant,,ENST00000445452,;RP4-613B23.1,intron_variant,,ENST00000438017,;NKTR,3_prime_UTR_variant,,ENST00000429888,;NKTR,non_coding_transcript_exon_variant,,ENST00000465584,;NKTR,non_coding_transcript_exon_variant,,ENST00000468735,;NKTR,non_coding_transcript_exon_variant,,ENST00000472127,;NKTR,non_coding_transcript_exon_variant,,ENST00000498730,;NKTR,upstream_gene_variant,,ENST00000508351,;NKTR,upstream_gene_variant,,ENST00000464315,;NKTR,downstream_gene_variant,,ENST00000466553,;NKTR,upstream_gene_variant,,ENST00000472258,;NKTR,upstream_gene_variant,,ENST00000460807,;	751	65	82	SUCCESS
NCKIPSD	51517	.	GRCh37	3	48716129	48716129	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	18	188	0	ENST00000294129.2:c.1833A>T	p.Pro611=	p.P611=	ENST00000294129	NM_016453.3	611	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2776.1	1833	MUTECT|MUSE|VARSCANS	.	GAGTGTGGTGG	NONE	.	.	hmmpanther:PTHR13357,Pfam_domain:PF09431	.	.	ENSP00000294129	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000294129	Transcript	.	.	ENSG00000213672	15486	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPN90_HUMAN	NCKIPSD	HGNC	C9JMQ4_HUMAN,C9JC20_HUMAN	.	UPI0000135D86	SNV	NCKIPSD,synonymous_variant,p.%3D,ENST00000416649,;NCKIPSD,synonymous_variant,p.%3D,ENST00000294129,;NCKIPSD,synonymous_variant,p.%3D,ENST00000341520,;NCKIPSD,synonymous_variant,p.%3D,ENST00000413374,;NCKIPSD,downstream_gene_variant,,ENST00000426678,;NCKIPSD,downstream_gene_variant,,ENST00000453349,;NCKIPSD,downstream_gene_variant,,ENST00000415281,;NCKIPSD,downstream_gene_variant,,ENST00000439518,;NCKIPSD,non_coding_transcript_exon_variant,,ENST00000470006,;NCKIPSD,downstream_gene_variant,,ENST00000454134,;	1953	188	241	SUCCESS
NISCH	11188	.	GRCh37	3	52489713	52489713	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	36	0	ENST00000345716.4:c.56C>T	p.Ala19Val	p.A19V	ENST00000345716	NM_007184.3	19	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33767.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGAAGCGCGCG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50195,SMART_domains:SM00312	.	.	ENSP00000339958	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000345716	Transcript	.	.	ENSG00000010322	18006	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	.	tolerated(1)	.	NISCH_HUMAN	NISCH	HGNC	.	.	UPI000036715D	SNV	NISCH,missense_variant,p.Ala19Val,ENST00000345716,;NISCH,missense_variant,p.Ala19Val,ENST00000488380,;NISCH,missense_variant,p.Ala19Val,ENST00000479054,;NISCH,missense_variant,p.Ala19Val,ENST00000420808,;TNNC1,upstream_gene_variant,,ENST00000232975,;TNNC1,upstream_gene_variant,,ENST00000496590,;TNNC1,upstream_gene_variant,,ENST00000461086,;NISCH,upstream_gene_variant,,ENST00000489895,;	190	36	17	SUCCESS
CHDH	55349	.	GRCh37	3	53857409	53857409	+	synonymous_variant	Silent	SNP	G	G	A	rs1198143434	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	119	0	ENST00000315251.6:c.627C>T	p.Ala209=	p.A209=	ENST00000315251	NM_018397.4	209	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2873.1	627	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGGCCTG	NONE	.	.	hmmpanther:PTHR11552,hmmpanther:PTHR11552:SF14,Pfam_domain:PF00732,PIRSF_domain:PIRSF000137,Superfamily_domains:SSF51905	.	.	ENSP00000319851	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000315251	Transcript	.	.	ENSG00000016391	24288	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHDH_HUMAN	CHDH	HGNC	C9JYW4_HUMAN,C9J7D8_HUMAN,B4DMQ4_HUMAN	.	UPI000013C538	SNV	CHDH,synonymous_variant,p.%3D,ENST00000315251,;CHDH,downstream_gene_variant,,ENST00000481668,;CHDH,downstream_gene_variant,,ENST00000467802,;	1065	119	84	SUCCESS
CADPS	8618	.	GRCh37	3	62518735	62518735	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	67	0	ENST00000383710.4:c.2104-2A>T		p.X702_splice	ENST00000383710	NM_003716.3	702		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46858.1	.	MUTECT|MUSE|VARSCANS	.	AGCCCTATATA	NONE	.	.	.	.	.	ENSP00000373215	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	HIGH	12/29	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,splice_acceptor_variant,,ENST00000357948,;CADPS,splice_acceptor_variant,,ENST00000468271,;CADPS,splice_acceptor_variant,,ENST00000383710,;CADPS,splice_acceptor_variant,,ENST00000478434,;CADPS,splice_acceptor_variant,,ENST00000542833,;CADPS,splice_acceptor_variant,,ENST00000283269,;CADPS,splice_acceptor_variant,,ENST00000491424,;CADPS,downstream_gene_variant,,ENST00000490424,;	.	67	78	SUCCESS
BRPF1	7862	.	GRCh37	3	9776024	9776024	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	36	164	1	ENST00000457855.1:c.200A>C	p.Gln67Pro	p.Q67P	ENST00000457855		67	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS33692.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCAGTCAC	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85	.	.	ENSP00000373340	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.28)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Gln67Pro,ENST00000426583,;BRPF1,missense_variant,p.Gln67Pro,ENST00000457855,;BRPF1,missense_variant,p.Gln67Pro,ENST00000424362,;BRPF1,missense_variant,p.Gln67Pro,ENST00000433861,;BRPF1,missense_variant,p.Gln67Pro,ENST00000383829,;BRPF1,missense_variant,p.Gln67Pro,ENST00000302054,;BRPF1,missense_variant,p.Gln67Pro,ENST00000420291,;CPNE9,downstream_gene_variant,,ENST00000383832,;	604	165	148	SUCCESS
OR5H14	403273	.	GRCh37	3	97868315	97868315	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	16	248	0	ENST00000437310.1:c.86T>A	p.Leu29Gln	p.L29Q	ENST00000437310	NM_001005514.1	29	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS33798.1	86	MUTECT|MUSE	.	GTTCCTGGCAT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.823)	.	deleterious(0.01)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Leu29Gln,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	146	248	264	SUCCESS
ALPK1	80216	.	GRCh37	4	113353386	113353386	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	67	203	0	ENST00000177648.9:c.2683A>G	p.Asn895Asp	p.N895D	ENST00000177648		895	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3697.1	2683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTAACATC	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30	.	.	ENSP00000398048	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000458497	Transcript	.	.	ENSG00000073331	20917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.42)	.	ALPK1_HUMAN	ALPK1	HGNC	.	.	UPI000045725F	SNV	ALPK1,missense_variant,p.Asn817Asp,ENST00000504176,;ALPK1,missense_variant,p.Asn895Asp,ENST00000458497,;ALPK1,missense_variant,p.Asn895Asp,ENST00000177648,;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	2962	203	132	SUCCESS
C4orf21	0	.	GRCh37	4	113461976	113461976	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	42	136	0	ENST00000505019.1:c.5910+1G>T		p.X1970_splice	ENST00000505019	NM_018392.4	1970		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3700.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACCTTGT	NONE	.	.	.	.	.	ENSP00000424737	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	HIGH	26/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,splice_donor_variant,,ENST00000505019,;RP11-402J6.1,intron_variant,,ENST00000504009,;C4orf21,splice_donor_variant,,ENST00000445413,;C4orf21,splice_donor_variant,,ENST00000506675,;	.	136	84	SUCCESS
C4orf21	0	.	GRCh37	4	113462074	113462074	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	54	163	1	ENST00000505019.1:c.5813C>T	p.Ala1938Val	p.A1938V	ENST00000505019	NM_018392.4	1938	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS3700.2	5813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTAGCTTCT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	.	.	ENSP00000424737	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	tolerated(0.19)	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,missense_variant,p.Ala1938Val,ENST00000505019,;RP11-402J6.1,intron_variant,,ENST00000504009,;C4orf21,3_prime_UTR_variant,,ENST00000445413,;C4orf21,non_coding_transcript_exon_variant,,ENST00000506675,;	5939	164	101	SUCCESS
MAEA	10296	.	GRCh37	4	1332275	1332275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	99	0	ENST00000303400.4:c.965A>T	p.Asn322Ile	p.N322I	ENST00000303400	NM_001017405.1	322	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS33936.1	965	MUTECT|MUSE	.	CCTGAACAAGC	NONE	.	.	hmmpanther:PTHR12170:SF2,hmmpanther:PTHR12170	.	.	ENSP00000302830	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000303400	Transcript	.	.	ENSG00000090316	13731	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	MAEA_HUMAN	MAEA	HGNC	D6RID6_HUMAN,D3DVP1_HUMAN,B4DQT1_HUMAN,B3KXS8_HUMAN	.	UPI00000343F4	SNV	MAEA,missense_variant,p.Asn274Ile,ENST00000505839,;MAEA,missense_variant,p.Asn254Ile,ENST00000514708,;MAEA,missense_variant,p.Asn360Ile,ENST00000505177,;MAEA,missense_variant,p.Asn321Ile,ENST00000510794,;MAEA,missense_variant,p.Asn322Ile,ENST00000303400,;MAEA,missense_variant,p.Asn243Ile,ENST00000452175,;MAEA,missense_variant,p.Asn281Ile,ENST00000264750,;MAEA,downstream_gene_variant,,ENST00000503653,;MAEA,non_coding_transcript_exon_variant,,ENST00000512289,;MAEA,3_prime_UTR_variant,,ENST00000509531,;MAEA,non_coding_transcript_exon_variant,,ENST00000506530,;MAEA,non_coding_transcript_exon_variant,,ENST00000515766,;MAEA,non_coding_transcript_exon_variant,,ENST00000503162,;	1028	99	88	SUCCESS
CD38	952	.	GRCh37	4	15841652	15841652	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	86	0	ENST00000226279.3:c.663T>G	p.Thr221=	p.T221=	ENST00000226279	NM_001775.2	221	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS3417.1	663	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACTTTTGG	NONE	.	.	hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF5,Gene3D:3.40.50.720,Pfam_domain:PF02267,Superfamily_domains:SSF52309	.	.	ENSP00000226279	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000226279	Transcript	.	.	ENSG00000004468	1667	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD38_HUMAN	CD38	HGNC	Q4FCX6_HUMAN,B4DMR7_HUMAN	.	UPI00000739C2	SNV	CD38,synonymous_variant,p.%3D,ENST00000510674,;CD38,synonymous_variant,p.%3D,ENST00000226279,;CD38,3_prime_UTR_variant,,ENST00000502843,;	800	86	89	SUCCESS
PPARGC1A	10891	.	GRCh37	4	23797512	23797512	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1274372187	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	62	0	ENST00000264867.2:c.2330A>T	p.Lys777Met	p.K777M	ENST00000264867	NM_013261.3	777	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS3429.1	2330	MUTECT|MUSE	.	TGCTCTTGGTG	NONE	.	.	hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528	.	.	ENSP00000264867	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000264867	Transcript	1	.	ENSG00000109819	9237	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	PRGC1_HUMAN	PPARGC1A	HGNC	G8DM16_HUMAN	.	UPI000004D072	SNV	PPARGC1A,missense_variant,p.Lys777Met,ENST00000264867,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;	2450	62	86	SUCCESS
UGT2B7	7364	.	GRCh37	4	69962549	69962549	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	60	0	ENST00000305231.7:c.311C>A	p.Thr104Lys	p.T104K	ENST00000305231	NM_001074.2	104	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS3526.1	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATACATTTT	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000304811	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305231	Transcript	.	.	ENSG00000171234	12554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious(0.03)	.	UD2B7_HUMAN	UGT2B7	HGNC	Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN	.	UPI00000015EC	SNV	UGT2B7,missense_variant,p.Thr104Lys,ENST00000305231,;UGT2B7,missense_variant,p.Thr104Lys,ENST00000508661,;UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	357	60	58	SUCCESS
MAN2A1	4124	.	GRCh37	5	109026191	109026191	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769889577	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	57	141	0	ENST00000261483.4:c.73A>G	p.Met25Val	p.M25V	ENST00000261483	NM_002372.2	25	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34209.1	73	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGATGCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20	.	.	ENSP00000261483	.	1/22	.	.	.	.	.	.	.	.	rs769889577	1/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.05)	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,missense_variant,p.Met25Val,ENST00000261483,;AC012603.1,downstream_gene_variant,,ENST00000583099,;CTC-332L22.1,upstream_gene_variant,,ENST00000606424,;	1125	141	219	SUCCESS
YTHDC2	64848	.	GRCh37	5	112889035	112889035	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	6	70	0	ENST00000161863.4:c.1846A>T	p.Ile616Phe	p.I616F	ENST00000161863	NM_022828.3	616	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS4113.1	1846	MUTECT|MUSE	.	ACAATATCTGC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF86,PROSITE_profiles:PS51194	.	.	ENSP00000161863	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000161863	Transcript	.	.	ENSG00000047188	24721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	YTDC2_HUMAN	YTHDC2	HGNC	D6RA70_HUMAN	.	UPI0000367311	SNV	YTHDC2,missense_variant,p.Ile616Phe,ENST00000515883,;YTHDC2,missense_variant,p.Ile616Phe,ENST00000161863,;YTHDC2,3_prime_UTR_variant,,ENST00000503857,;	2059	70	97	SUCCESS
DDX46	9879	.	GRCh37	5	134117757	134117757	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	11	158	0	ENST00000354283.4:c.1026A>T	p.Leu342=	p.L342=	ENST00000354283		342	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34240.1	1026	MUTECT|MUSE	.	GAACTAGCAAA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158,Superfamily_domains:SSF52540	.	.	ENSP00000346236	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,synonymous_variant,p.%3D,ENST00000354283,;DDX46,synonymous_variant,p.%3D,ENST00000452510,;DDX46,upstream_gene_variant,,ENST00000509178,;DDX46,synonymous_variant,p.%3D,ENST00000507392,;DDX46,synonymous_variant,p.%3D,ENST00000513592,;DDX46,intron_variant,,ENST00000505592,;DDX46,downstream_gene_variant,,ENST00000509255,;DDX46,downstream_gene_variant,,ENST00000513987,;	1161	158	181	SUCCESS
SPOCK1	6695	.	GRCh37	5	136324224	136324224	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	236	124	318	0	ENST00000394945.1:c.815T>A	p.Ile272Asn	p.I272N	ENST00000394945	NM_004598.3	272	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS4191.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGATGGCA	NONE	.	.	hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036,Pfam_domain:PF10591,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000378401	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000394945	Transcript	.	.	ENSG00000152377	11251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	TICN1_HUMAN	SPOCK1	HGNC	D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN	.	UPI0000136F50	SNV	SPOCK1,missense_variant,p.Ile272Asn,ENST00000394945,;SPOCK1,missense_variant,p.Ile272Asn,ENST00000282223,;SPOCK1,downstream_gene_variant,,ENST00000510689,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000509978,;SPOCK1,downstream_gene_variant,,ENST00000508642,;	985	318	361	SUCCESS
PKD2L2	27039	.	GRCh37	5	137226191	137226191	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	55	186	0	ENST00000508883.1:c.53A>G	p.His18Arg	p.H18R	ENST00000508883		18	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS43367.1	53	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCATTACA	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47	.	.	ENSP00000290431	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000290431	Transcript	.	.	ENSG00000078795	9012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.55)	.	PK2L2_HUMAN	PKD2L2	HGNC	D6RF71_HUMAN,D6RBX8_HUMAN	.	UPI000049E016	SNV	PKD2L2,missense_variant,p.His18Arg,ENST00000508883,;PKD2L2,missense_variant,p.His18Arg,ENST00000290431,;PKD2L2,missense_variant,p.His18Arg,ENST00000502810,;PKD2L2,missense_variant,p.His18Arg,ENST00000508638,;PKD2L2,5_prime_UTR_variant,,ENST00000503015,;PKD2L2,5_prime_UTR_variant,,ENST00000511176,;PKD2L2,intron_variant,,ENST00000350250,;MYOT,downstream_gene_variant,,ENST00000239926,;MYOT,downstream_gene_variant,,ENST00000421631,;MYOT,downstream_gene_variant,,ENST00000515645,;RP11-381K20.2,upstream_gene_variant,,ENST00000508281,;RP11-381K20.2,upstream_gene_variant,,ENST00000514616,;MYOT,downstream_gene_variant,,ENST00000509812,;PKD2L2,missense_variant,p.His18Arg,ENST00000414094,;MYOT,downstream_gene_variant,,ENST00000511254,;MYOT,downstream_gene_variant,,ENST00000508938,;	76	186	178	SUCCESS
PCDHA2	56146	.	GRCh37	5	140176896	140176896	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1554120396	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	77	228	1	ENST00000526136.1:c.2347G>A	p.Ala783Thr	p.A783T	ENST00000526136	NM_018905.2	783	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54914.1	2347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGCAGAA	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.65)	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,missense_variant,p.Ala783Thr,ENST00000378132,;PCDHA2,missense_variant,p.Ala783Thr,ENST00000526136,;PCDHA2,missense_variant,p.Ala783Thr,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,upstream_gene_variant,,ENST00000532566,;PCDHA3,upstream_gene_variant,,ENST00000522353,;	2347	230	266	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140744766	140744766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	68	0	ENST00000518069.1:c.869A>T	p.Glu290Val	p.E290V	ENST00000518069	NM_018918.2	290	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54925.1	869	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGGAGACTT	BUFFER|p.S289L|c.866C>T|4,BUFFER|p.S289L|c.866C>T|4	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.392)	.	deleterious_low_confidence(0.01)	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,missense_variant,p.Glu290Val,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;	869	68	64	SUCCESS
DPYSL3	1809	.	GRCh37	5	146792244	146792244	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	100	0	ENST00000398514.3:c.548A>T	p.Glu183Val	p.E183V	ENST00000398514	NM_001387.2	183	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS56387.1	890	RADIA|MUTECT|MUSE|VARSCANS	.	AGATCTCATAG	NONE	.	.	Superfamily_domains:SSF51556,Pfam_domain:PF01979,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR02033,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF57	.	.	ENSP00000343690	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000343218	Transcript	.	.	ENSG00000113657	3015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DPYL3_HUMAN	DPYSL3	HGNC	F5GWI3_HUMAN	.	UPI000020CF0E	SNV	DPYSL3,missense_variant,p.Glu183Val,ENST00000398514,;DPYSL3,missense_variant,p.Glu297Val,ENST00000343218,;DPYSL3,intron_variant,,ENST00000534907,;DPYSL3,non_coding_transcript_exon_variant,,ENST00000519672,;DPYSL3,intron_variant,,ENST00000507309,;	1088	100	95	SUCCESS
ATP10B	23120	.	GRCh37	5	160061560	160061560	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	220	19	215	1	ENST00000327245.5:c.1182A>T	p.Gln394His	p.Q394H	ENST00000327245	NM_025153.2	394	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS43394.1	1182	MUTECT|MUSE	.	AACACTTGCCC	NONE	.	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.582)	.	deleterious(0.02)	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,missense_variant,p.Gln394His,ENST00000327245,;ATP10B,missense_variant,p.Gln2His,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;ATP10B,non_coding_transcript_exon_variant,,ENST00000326831,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;	2029	216	239	SUCCESS
TENM2	57451	.	GRCh37	5	167474526	167474526	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	314	125	381	1	ENST00000518659.1:c.1281T>C	p.Asp427=	p.D427=	ENST00000518659	NM_001122679.1	427	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	.	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATGTGGC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219	.	.	ENSP00000429430	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,synonymous_variant,p.%3D,ENST00000545108,;TENM2,synonymous_variant,p.%3D,ENST00000519204,;TENM2,synonymous_variant,p.%3D,ENST00000518659,;TENM2,synonymous_variant,p.%3D,ENST00000403607,;TENM2,intron_variant,,ENST00000520394,;TENM2,downstream_gene_variant,,ENST00000518693,;	1320	382	439	SUCCESS
SPDL1	54908	.	GRCh37	5	169023605	169023605	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145815866	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	59	190	0	ENST00000265295.4:c.932C>T	p.Thr311Ile	p.T311I	ENST00000265295	NM_017785.4	311	aCt/aTt	0	G:0.0002	.	.	.	.	T	T/I	protein_coding	YES	CCDS4370.1	932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAACTGAAT	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,HAMAP:MF_03041,hmmpanther:PTHR32123:SF9,hmmpanther:PTHR32123	.	G:0	ENSP00000265295	.	8/12	.	.	.	.	.	.	.	.	rs145815866	8/12	PASS	ENST00000265295	Transcript	.	.	ENSG00000040275	26010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.53)	.	deleterious(0)	.	SPDLY_HUMAN	SPDL1	HGNC	D6RIF7_HUMAN,D6RIB8_HUMAN,D6REZ1_HUMAN,D6RC83_HUMAN,D6R936_HUMAN	.	UPI000013D5F0	SNV	SPDL1,missense_variant,p.Thr232Ile,ENST00000505977,;SPDL1,missense_variant,p.Thr311Ile,ENST00000265295,;SPDL1,downstream_gene_variant,,ENST00000508247,;SPDL1,downstream_gene_variant,,ENST00000513941,;SPDL1,downstream_gene_variant,,ENST00000513795,;SPDL1,downstream_gene_variant,,ENST00000523518,;SPDL1,downstream_gene_variant,,ENST00000510751,;SPDL1,3_prime_UTR_variant,,ENST00000507232,;SPDL1,downstream_gene_variant,,ENST00000512028,;SPDL1,downstream_gene_variant,,ENST00000503871,;	1211	190	196	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33648938	33648938	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	71	162	0	ENST00000504830.1:c.1468C>T	p.Gln490Ter	p.Q490*	ENST00000504830	NM_030955.2	490	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS34140.1	1468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGGCAGA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	.	.	ENSP00000422554	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,stop_gained,p.Gln490Ter,ENST00000504830,;ADAMTS12,stop_gained,p.Gln490Ter,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	1804	162	198	SUCCESS
LIFR	3977	.	GRCh37	5	38490325	38490325	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	117	0	ENST00000263409.4:c.2134T>A	p.Leu712Ile	p.L712I	ENST00000263409	NM_002310.5	712	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS3927.1	2134	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTAATAATT	NONE	.	.	Superfamily_domains:SSF49265,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91	.	.	ENSP00000263409	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000263409	Transcript	1	.	ENSG00000113594	6597	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	LIFR_HUMAN	LIFR	HGNC	D6RJ94_HUMAN,D6RF33_HUMAN	.	UPI000004CAC2	SNV	LIFR,missense_variant,p.Leu712Ile,ENST00000263409,;LIFR,missense_variant,p.Leu712Ile,ENST00000453190,;LIFR,downstream_gene_variant,,ENST00000503088,;LIFR,3_prime_UTR_variant,,ENST00000506003,;LIFR,upstream_gene_variant,,ENST00000508477,;	2297	117	123	SUCCESS
IL6ST	3572	.	GRCh37	5	55259982	55259990	+	inframe_deletion	In_Frame_Del	DEL	ACAGGATCA	ACAGGATCA	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	ACAGGATCA	ACAGGATCA	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	136	0	ENST00000336909.5:c.642_650del	p.Phe214_Val217delinsLeu	p.F214_V217delinsL	ENST00000336909		214	ttTGATCCTGTa/tta	0	.	.	.	.	.	-	FDPV/L	protein_coding	YES	CCDS3971.1	642-650	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATATACAGGATCAAAATT	NONE	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000522633,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000381287,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000336909,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000381298,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000536319,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000381294,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,downstream_gene_variant,,ENST00000396816,;IL6ST,downstream_gene_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Phe214_Val217delinsLeu,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	955-963	136	106	SUCCESS
SGTB	54557	.	GRCh37	5	65000103	65000103	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	44	0	ENST00000381007.4:c.374+3A>T		p.X125_splice	ENST00000381007	NM_019072.2	125		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3988.1	.	MUSE|VARSCANS	.	TAGTTTACCTG	NONE	.	.	.	.	.	ENSP00000370395	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381007	Transcript	.	.	ENSG00000197860	23567	.	.	LOW	5/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SGTB_HUMAN	SGTB	HGNC	O75589_HUMAN,D6RFW1_HUMAN	.	UPI000004D24F	SNV	SGTB,splice_region_variant,,ENST00000381007,;SGTB,splice_region_variant,,ENST00000506816,;	.	44	66	SUCCESS
GRIK2	2898	.	GRCh37	6	102250278	102250278	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	94	0	ENST00000421544.1:c.1168G>A	p.Asp390Asn	p.D390N	ENST00000421544	NM_021956.4	390	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS5048.1	1168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGATGTG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Gene3D:3.40.190.10,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000397026	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,missense_variant,p.Asp390Asn,ENST00000369138,;GRIK2,missense_variant,p.Asp390Asn,ENST00000413795,;GRIK2,missense_variant,p.Asp103Asn,ENST00000455610,;GRIK2,missense_variant,p.Asp390Asn,ENST00000318991,;GRIK2,missense_variant,p.Asp390Asn,ENST00000421544,;GRIK2,missense_variant,p.Asp341Asn,ENST00000369134,;GRIK2,missense_variant,p.Asp390Asn,ENST00000369137,;	1658	94	101	SUCCESS
CD164	8763	.	GRCh37	6	109690222	109690222	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	10	191	0	ENST00000310786.4:c.428-2A>T		p.X143_splice	ENST00000310786	NM_001142404.1	143		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5073.1	.	MUTECT|MUSE	.	GTACCTGTTAG	NONE	.	.	.	.	.	ENSP00000309376	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310786	Transcript	.	.	ENSG00000135535	1632	.	.	HIGH	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUC24_HUMAN	CD164	HGNC	.	.	UPI000006EB36	SNV	CD164,splice_acceptor_variant,,ENST00000368961,;CD164,splice_acceptor_variant,,ENST00000504373,;CD164,splice_acceptor_variant,,ENST00000310786,;CD164,splice_acceptor_variant,,ENST00000275080,;CD164,splice_acceptor_variant,,ENST00000413644,;CD164,splice_acceptor_variant,,ENST00000324953,;CD164,intron_variant,,ENST00000512821,;CD164,splice_acceptor_variant,,ENST00000506649,;CD164,splice_acceptor_variant,,ENST00000415861,;CD164,splice_acceptor_variant,,ENST00000499860,;	.	191	139	SUCCESS
MICAL1	64780	.	GRCh37	6	109774931	109774931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	5	94	0	ENST00000358807.3:c.376C>T	p.His126Tyr	p.H126Y	ENST00000358807	NM_022765.3	126	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS5076.1	376	MUTECT|MUSE|VARSCANS	.	GAGGTGGAGCA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF259,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000351664	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000358807	Transcript	.	.	ENSG00000135596	20619	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MICA1_HUMAN	MICAL1	HGNC	Q5TED7_HUMAN,H0UI45_HUMAN	.	UPI00000745D0	SNV	MICAL1,missense_variant,p.His126Tyr,ENST00000431946,;MICAL1,missense_variant,p.His126Tyr,ENST00000358807,;MICAL1,missense_variant,p.His126Tyr,ENST00000358577,;MICAL1,missense_variant,p.His145Tyr,ENST00000368952,;MICAL1,upstream_gene_variant,,ENST00000433205,;MICAL1,upstream_gene_variant,,ENST00000483856,;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,;MICAL1,upstream_gene_variant,,ENST00000465904,;	688	94	62	SUCCESS
BTN2A2	10385	.	GRCh37	6	26392974	26392974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	117	369	0	ENST00000356709.4:c.1351G>T	p.Asp451Tyr	p.D451Y	ENST00000356709	NM_001197240.1	451	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4606.1	1351	RADIA|MUTECT|MUSE	.	TCCTGGACTAT	BUFFER|p.G447G|c.1341C>T|3	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF43,hmmpanther:PTHR24100,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000349143	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000356709	Transcript	.	.	ENSG00000124508	1137	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	BT2A2_HUMAN	BTN2A2	HGNC	C9JAJ6_HUMAN,C9J8R3_HUMAN,C9IZY2_HUMAN,C9IY66_HUMAN	.	UPI00000480EA	SNV	BTN2A2,missense_variant,p.Asp451Tyr,ENST00000356709,;BTN2A2,missense_variant,p.Asp335Tyr,ENST00000352867,;BTN2A2,missense_variant,p.Asp451Tyr,ENST00000416795,;BTN2A2,missense_variant,p.Asp241Tyr,ENST00000482536,;BTN2A2,3_prime_UTR_variant,,ENST00000495632,;BTN2A2,3_prime_UTR_variant,,ENST00000432533,;BTN2A2,intron_variant,,ENST00000469230,;BTN2A2,downstream_gene_variant,,ENST00000472507,;BTN2A2,downstream_gene_variant,,ENST00000490025,;BTN2A2,downstream_gene_variant,,ENST00000482842,;BTN2A2,downstream_gene_variant,,ENST00000493275,;BTN2A2,downstream_gene_variant,,ENST00000483410,;BTN2A2,downstream_gene_variant,,ENST00000471116,;BTN2A2,downstream_gene_variant,,ENST00000467485,;	1462	369	364	SUCCESS
DPCR1	0	.	GRCh37	6	30917142	30917142	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs960064176	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	61	155	0	ENST00000462446.1:c.901C>T	p.Pro301Ser	p.P301S	ENST00000462446		301	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4692.2	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCCCAGCA	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.54)	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Pro301Ser,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	929	155	183	SUCCESS
TNF	7124	.	GRCh37	6	31544903	31544903	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	64	0	ENST00000449264.2:c.291A>T	p.Gln97His	p.Q97H	ENST00000449264	NM_000594.3	97	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS4702.1	291	MUTECT|MUSE	.	CCTCAAGCTGA	NONE	.	.	PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF23,Gene3D:2.60.120.40,SMART_domains:SM00207,Superfamily_domains:SSF49842,Prints_domain:PR01234	.	.	ENSP00000398698	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000449264	Transcript	.	.	ENSG00000232810	11892	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	deleterious(0.05)	.	TNFA_HUMAN	TNF	HGNC	Q5STB3_HUMAN,C1K3N5_HUMAN,B5BUQ6_HUMAN	.	UPI000000D745	SNV	TNF,missense_variant,p.Gln97His,ENST00000449264,;LTA,downstream_gene_variant,,ENST00000418386,;LTA,downstream_gene_variant,,ENST00000454783,;LTB,downstream_gene_variant,,ENST00000446745,;LTB,downstream_gene_variant,,ENST00000429299,;LTB,downstream_gene_variant,,ENST00000483972,;LTA,downstream_gene_variant,,ENST00000489638,;LTA,downstream_gene_variant,,ENST00000471842,;LTB,downstream_gene_variant,,ENST00000482429,;	466	64	59	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33403036	33403036	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	44	134	0	ENST00000418600.2:c.617T>C	p.Ile206Thr	p.I206T	ENST00000418600	NM_006772.2	206	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34434.2	617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATCAAGC	NONE	.	.	hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Gene3D:2.30.29.30,SMART_domains:SM00233	.	.	ENSP00000403636	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000418600	Transcript	.	.	ENSG00000197283	11497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	deleterious(0)	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,missense_variant,p.Ile147Thr,ENST00000428982,;SYNGAP1,missense_variant,p.Ile206Thr,ENST00000418600,;SYNGAP1,missense_variant,p.Ile206Thr,ENST00000293748,;SYNGAP1,missense_variant,p.Ile206Thr,ENST00000449372,;MIR5004,upstream_gene_variant,,ENST00000579078,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000495633,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000479510,;	718	134	157	SUCCESS
TAF8	129685	.	GRCh37	6	42036240	42036240	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	18	199	0	ENST00000372977.3:c.675A>T	p.Thr225=	p.T225=	ENST00000372977	NM_138572.2	225	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43462.1	675	MUTECT|MUSE	.	CTGACAGCTCT	NONE	.	.	hmmpanther:PTHR23307:SF0,hmmpanther:PTHR23307	.	.	ENSP00000362068	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000372977	Transcript	.	.	ENSG00000137413	17300	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TAF8_HUMAN	TAF8	HGNC	.	.	UPI00001A36D2	SNV	TAF8,splice_acceptor_variant,,ENST00000465926,;TAF8,synonymous_variant,p.%3D,ENST00000456846,;TAF8,synonymous_variant,p.%3D,ENST00000372977,;TAF8,synonymous_variant,p.%3D,ENST00000494547,;TAF8,synonymous_variant,p.%3D,ENST00000372982,;TAF8,downstream_gene_variant,,ENST00000482926,;	693	199	269	SUCCESS
SLC35B2	347734	.	GRCh37	6	44223243	44223243	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	79	236	1	ENST00000393812.3:c.499G>T	p.Ala167Ser	p.A167S	ENST00000393812	NM_178148.2	167	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34462.1	499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCACAA	NONE	.	.	hmmpanther:PTHR10778,hmmpanther:PTHR10778:SF13,Pfam_domain:PF08449	.	.	ENSP00000377401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000393812	Transcript	.	.	ENSG00000157593	16872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.81)	.	S35B2_HUMAN	SLC35B2	HGNC	B4DDM2_HUMAN,B3KVY9_HUMAN	.	UPI00000705AE	SNV	SLC35B2,missense_variant,p.Ala74Ser,ENST00000538577,;SLC35B2,missense_variant,p.Ala34Ser,ENST00000537814,;SLC35B2,missense_variant,p.Ala167Ser,ENST00000393812,;SLC35B2,3_prime_UTR_variant,,ENST00000393810,;HSP90AB1,downstream_gene_variant,,ENST00000371646,;HSP90AB1,downstream_gene_variant,,ENST00000353801,;NFKBIE,downstream_gene_variant,,ENST00000275015,;NFKBIE,downstream_gene_variant,,ENST00000443607,;HSP90AB1,downstream_gene_variant,,ENST00000371554,;MIR4647,upstream_gene_variant,,ENST00000583964,;SLC35B2,non_coding_transcript_exon_variant,,ENST00000495706,;NFKBIE,downstream_gene_variant,,ENST00000477930,;	643	237	271	SUCCESS
AARS2	57505	.	GRCh37	6	44279864	44279864	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	11	149	0	ENST00000244571.4:c.380A>T	p.His127Leu	p.H127L	ENST00000244571	NM_020745.3	127	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS34464.1	380	MUTECT|MUSE	.	TATGATGGGAA	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344,Gene3D:3.30.930.10,Superfamily_domains:SSF55681,Prints_domain:PR00980	.	.	ENSP00000244571	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,missense_variant,p.His127Leu,ENST00000244571,;TMEM151B,downstream_gene_variant,,ENST00000438774,;RP11-444E17.6,intron_variant,,ENST00000505802,;	383	149	188	SUCCESS
GPR111	0	.	GRCh37	6	47624347	47624347	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	41	116	0	ENST00000296862.1:c.108+17C>T		p.*36*	ENST00000296862				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	GAGAGCCAGTA	NONE	.	.	.	.	.	ENSP00000296862	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296862	Transcript	.	.	ENSG00000164393	18991	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP111_HUMAN	GPR111	HGNC	.	.	UPI000007411C	SNV	GPR111,5_prime_UTR_variant,,ENST00000507065,;GPR111,intron_variant,,ENST00000296862,;GPR111,5_prime_UTR_variant,,ENST00000467205,;	.	116	117	SUCCESS
RIMS1	22999	.	GRCh37	6	72967855	72967855	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	73	0	ENST00000521978.1:c.2798G>T	p.Ser933Ile	p.S933I	ENST00000521978	NM_014989.5	933	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47449.1	2798	RADIA|MUTECT|MUSE	.	AGAAAGTAAAT	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.775)	.	tolerated(0.25)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Ser933Ile,ENST00000491071,;RIMS1,missense_variant,p.Ser392Ile,ENST00000517827,;RIMS1,missense_variant,p.Ser326Ile,ENST00000453976,;RIMS1,missense_variant,p.Ser932Ile,ENST00000522291,;RIMS1,missense_variant,p.Ser24Ile,ENST00000522211,;RIMS1,missense_variant,p.Ser932Ile,ENST00000520567,;RIMS1,missense_variant,p.Ser933Ile,ENST00000518273,;RIMS1,missense_variant,p.Ser932Ile,ENST00000517960,;RIMS1,missense_variant,p.Ser507Ile,ENST00000517433,;RIMS1,missense_variant,p.Ser407Ile,ENST00000523963,;RIMS1,missense_variant,p.Ser326Ile,ENST00000425662,;RIMS1,missense_variant,p.Ser933Ile,ENST00000264839,;RIMS1,missense_variant,p.Ser406Ile,ENST00000401910,;RIMS1,missense_variant,p.Ser932Ile,ENST00000348717,;RIMS1,missense_variant,p.Ser158Ile,ENST00000370420,;RIMS1,missense_variant,p.Ser933Ile,ENST00000521978,;RIMS1,5_prime_UTR_variant,,ENST00000538414,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	2798	73	76	SUCCESS
RIMS1	22999	.	GRCh37	6	72967911	72967911	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	29	107	0	ENST00000521978.1:c.2854C>A	p.Arg952Ser	p.R952S	ENST00000521978	NM_014989.5	952	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS47449.1	2854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACGTTCA	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	17/34	.	.	.	.	.	.	.	.	COSM3928594	17/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Arg952Ser,ENST00000491071,;RIMS1,missense_variant,p.Arg411Ser,ENST00000517827,;RIMS1,missense_variant,p.Arg345Ser,ENST00000453976,;RIMS1,missense_variant,p.Arg951Ser,ENST00000522291,;RIMS1,missense_variant,p.Arg43Ser,ENST00000522211,;RIMS1,missense_variant,p.Arg951Ser,ENST00000520567,;RIMS1,missense_variant,p.Arg952Ser,ENST00000518273,;RIMS1,missense_variant,p.Arg951Ser,ENST00000517960,;RIMS1,missense_variant,p.Arg526Ser,ENST00000517433,;RIMS1,missense_variant,p.Arg426Ser,ENST00000523963,;RIMS1,missense_variant,p.Arg345Ser,ENST00000425662,;RIMS1,missense_variant,p.Arg952Ser,ENST00000264839,;RIMS1,missense_variant,p.Arg425Ser,ENST00000401910,;RIMS1,missense_variant,p.Arg951Ser,ENST00000348717,;RIMS1,missense_variant,p.Arg177Ser,ENST00000370420,;RIMS1,missense_variant,p.Arg952Ser,ENST00000521978,;RIMS1,5_prime_UTR_variant,,ENST00000538414,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	2854	107	112	SUCCESS
MDN1	23195	.	GRCh37	6	90380710	90380710	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	45	171	0	ENST00000369393.3:c.13884T>C	p.Ser4628=	p.S4628=	ENST00000369393		4628	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS5024.1	13884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAAAGACAT	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	83/102	.	.	.	.	.	.	.	.	.	83/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,synonymous_variant,p.%3D,ENST00000369393,;MDN1,synonymous_variant,p.%3D,ENST00000428876,;RP1-122O8.7,upstream_gene_variant,,ENST00000438877,;MDN1,non_coding_transcript_exon_variant,,ENST00000468568,;	14000	171	157	SUCCESS
MDN1	23195	.	GRCh37	6	90381952	90381952	+	synonymous_variant	Silent	SNP	C	C	A	rs759420000	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	67	0	ENST00000369393.3:c.13761G>T	p.Ser4587=	p.S4587=	ENST00000369393		4587	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5024.1	13761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTACGATTT	NONE	byFrequency	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	82/102	.	.	.	.	.	.	.	.	rs759420000	82/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,synonymous_variant,p.%3D,ENST00000369393,;MDN1,synonymous_variant,p.%3D,ENST00000428876,;RP1-122O8.7,upstream_gene_variant,,ENST00000438877,;MDN1,non_coding_transcript_exon_variant,,ENST00000468568,;	13877	67	78	SUCCESS
FIS1	51024	.	GRCh37	7	100884160	100884160	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	367	27	308	0	ENST00000223136.4:c.206A>T	p.Glu69Val	p.E69V	ENST00000223136	NM_016068.2	69	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43626.1	206	MUTECT|MUSE	.	GCTGTTCCTCC	NONE	.	.	Superfamily_domains:SSF48452,PIRSF_domain:PIRSF008835,Gene3D:1.25.40.10,hmmpanther:PTHR13247,hmmpanther:PTHR13247:SF0	.	.	ENSP00000223136	.	3/5	.	.	.	.	.	.	.	.	COSM1547525	3/5	PASS	ENST00000223136	Transcript	.	.	ENSG00000214253	21689	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.716)	.	tolerated(0.12)	1	FIS1_HUMAN	FIS1	HGNC	.	.	UPI000007214F	SNV	FIS1,missense_variant,p.Asn59Tyr,ENST00000435848,;FIS1,missense_variant,p.Glu69Val,ENST00000223136,;FIS1,synonymous_variant,p.%3D,ENST00000442303,;FIS1,synonymous_variant,p.%3D,ENST00000474120,;CLDN15,upstream_gene_variant,,ENST00000412417,;CLDN15,upstream_gene_variant,,ENST00000401528,;CLDN15,upstream_gene_variant,,ENST00000414035,;CLDN15,upstream_gene_variant,,ENST00000308344,;FIS1,non_coding_transcript_exon_variant,,ENST00000482199,;FIS1,non_coding_transcript_exon_variant,,ENST00000463406,;FIS1,non_coding_transcript_exon_variant,,ENST00000480497,;CLDN15,upstream_gene_variant,,ENST00000433422,;FIS1,missense_variant,p.Asn25Tyr,ENST00000449367,;FIS1,missense_variant,p.Asn59Tyr,ENST00000473527,;CLDN15,upstream_gene_variant,,ENST00000463331,;CLDN15,upstream_gene_variant,,ENST00000433833,;	287	308	394	SUCCESS
PRKAR2B	5577	.	GRCh37	7	106781395	106781395	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	8	123	0	ENST00000265717.4:c.584A>T	p.Asp195Val	p.D195V	ENST00000265717	NM_002736.2	195	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS5740.1	584	MUTECT|MUSE	.	AATTGATAGGT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121,PROSITE_patterns:PS00888,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000548,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000265717	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000265717	Transcript	.	.	ENSG00000005249	9392	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	KAP3_HUMAN	PRKAR2B	HGNC	Q75MP1_HUMAN,O60380_HUMAN,A3R6R8_HUMAN	.	UPI000013D669	SNV	PRKAR2B,missense_variant,p.Asp195Val,ENST00000265717,;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000488792,;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000393613,;	843	123	166	SUCCESS
LRRN3	54674	.	GRCh37	7	110763113	110763113	+	synonymous_variant	Silent	SNP	T	T	A	rs151294396	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	31	0	ENST00000308478.5:c.285T>A	p.Thr95=	p.T95=	ENST00000308478	NM_001099658.1	95	acT/acA	0	C:0	.	.	.	.	A	T	protein_coding	YES	CCDS5754.1	285	MUTECT|MUSE	.	CTTACTGGCCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF7,Gene3D:3.80.10.10,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	C:0.0001	ENSP00000397312	.	4/4	.	.	.	.	.	.	.	.	rs151294396	4/4	PASS	ENST00000451085	Transcript	.	.	ENSG00000173114	17200	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRN3_HUMAN	LRRN3	HGNC	A4D0T1_HUMAN,E7EW58_HUMAN	.	UPI0000037517	SNV	LRRN3,synonymous_variant,p.%3D,ENST00000422987,;LRRN3,synonymous_variant,p.%3D,ENST00000421101,;LRRN3,synonymous_variant,p.%3D,ENST00000308478,;LRRN3,synonymous_variant,p.%3D,ENST00000451085,;IMMP2L,intron_variant,,ENST00000450877,;IMMP2L,intron_variant,,ENST00000437687,;IMMP2L,intron_variant,,ENST00000415362,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000405709,;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000331762,;IMMP2L,intron_variant,,ENST00000489381,;	1331	31	61	SUCCESS
LRGUK	136332	.	GRCh37	7	133881819	133881819	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	12	99	0	ENST00000285928.2:c.1507A>T	p.Arg503Ter	p.R503*	ENST00000285928	NM_144648.1	503	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS5830.1	1507	MUTECT|MUSE	.	TCGCAAGAGAT	NONE	.	.	PROSITE_profiles:PS50052,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35,Gene3D:3.30.63.10,Pfam_domain:PF00625,SMART_domains:SM00072,Superfamily_domains:SSF52540	.	.	ENSP00000285928	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000285928	Transcript	.	.	ENSG00000155530	21964	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRGUK_HUMAN	LRGUK	HGNC	.	.	UPI0000072C76	SNV	LRGUK,stop_gained,p.Arg503Ter,ENST00000285928,;	1576	99	163	SUCCESS
CNTNAP2	26047	.	GRCh37	7	147675070	147675070	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	14	158	0	ENST00000361727.3:c.2372G>T	p.Cys791Phe	p.C791F	ENST00000361727	NM_014141.5	791	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS5889.1	2372	MUTECT|MUSE	.	GCGCTGCCAAG	NONE	.	.	hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127	.	.	ENSP00000354778	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,missense_variant,p.Cys182Phe,ENST00000455301,;CNTNAP2,missense_variant,p.Cys791Phe,ENST00000361727,;	2888	158	227	SUCCESS
CNTNAP2	26047	.	GRCh37	7	147675071	147675071	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	14	156	0	ENST00000361727.3:c.2373C>T	p.Cys791=	p.C791=	ENST00000361727	NM_014141.5	791	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS5889.1	2373	MUTECT|MUSE	.	CGCTGCCAAGG	NONE	.	.	hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127	.	.	ENSP00000354778	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,synonymous_variant,p.%3D,ENST00000455301,;CNTNAP2,synonymous_variant,p.%3D,ENST00000361727,;	2889	156	225	SUCCESS
KMT2C	58508	.	GRCh37	7	151878935	151878935	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	59	113	0	ENST00000262189.6:c.6010A>T	p.Ser2004Cys	p.S2004C	ENST00000262189	NM_170606.2	2004	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS5931.1	6010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTGGTTC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	36/59	.	.	.	.	.	.	.	.	.	36/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Ser2004Cys,ENST00000355193,;KMT2C,missense_variant,p.Ser2004Cys,ENST00000262189,;KMT2C,intron_variant,,ENST00000558665,;KMT2C,upstream_gene_variant,,ENST00000360104,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	6229	113	226	SUCCESS
LMBR1	64327	.	GRCh37	7	156556491	156556491	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	6	85	0	ENST00000353442.5:c.424-2A>T		p.X142_splice	ENST00000353442	NM_022458.3	142		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5945.1	.	MUTECT|MUSE	.	TTCCCTGAAAA	NONE	.	.	.	.	.	ENSP00000326604	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353442	Transcript	.	.	ENSG00000105983	13243	.	.	HIGH	5/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMBR1_HUMAN	LMBR1	HGNC	Q7LDY5_HUMAN	.	UPI000005340E	SNV	LMBR1,splice_acceptor_variant,,ENST00000359422,;LMBR1,splice_acceptor_variant,,ENST00000540390,;LMBR1,splice_acceptor_variant,,ENST00000415428,;LMBR1,splice_acceptor_variant,,ENST00000353442,;LMBR1,splice_acceptor_variant,,ENST00000354505,;LMBR1,splice_acceptor_variant,,ENST00000461469,;LMBR1,splice_acceptor_variant,,ENST00000430278,;LMBR1,splice_acceptor_variant,,ENST00000434278,;LMBR1,splice_acceptor_variant,,ENST00000448926,;LMBR1,splice_acceptor_variant,,ENST00000444719,;LMBR1,splice_acceptor_variant,,ENST00000454132,;LMBR1,splice_acceptor_variant,,ENST00000434503,;LMBR1,upstream_gene_variant,,ENST00000477983,;	.	85	149	SUCCESS
DNAH11	8701	.	GRCh37	7	21847622	21847622	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	13	124	0	ENST00000409508.3:c.10288del	p.Gln3430ArgfsTer20	p.Q3430Rfs*20	ENST00000409508	NM_001277115.1	3429	cgC/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	.	10308	INDELOCATOR|VARSCANI	.	GTATCGCCAGGA	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000330671	.	64/83	.	.	.	.	.	.	.	.	.	64/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	deletion	DNAH11,frameshift_variant,p.Gln3437ArgfsTer20,ENST00000328843,;DNAH11,frameshift_variant,p.Gln3430ArgfsTer20,ENST00000409508,;	10339	125	158	SUCCESS
HOXA6	3203	.	GRCh37	7	27187129	27187129	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs1319069268	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	48	145	1	ENST00000222728.3:c.240T>A	p.Tyr80Ter	p.Y80*	ENST00000222728	NM_024014.3	80	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS5407.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAATAGAA	NONE	.	.	hmmpanther:PTHR24326:SF142,hmmpanther:PTHR24326	.	.	ENSP00000222728	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222728	Transcript	.	.	ENSG00000106006	5107	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA6_HUMAN	HOXA6	HGNC	.	.	UPI000012CF32	SNV	HOXA6,stop_gained,p.Tyr80Ter,ENST00000222728,;HOXA5,upstream_gene_variant,,ENST00000222726,;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000521231,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518947,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.23,intron_variant,,ENST00000498652,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA5,upstream_gene_variant,,ENST00000520854,;	265	146	147	SUCCESS
AMZ1	155185	.	GRCh37	7	2740227	2740227	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	79	0	ENST00000312371.4:c.142T>A	p.Tyr48Asn	p.Y48N	ENST00000312371	NM_133463.1	48	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS34589.1	142	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTACAAC	NONE	.	.	hmmpanther:PTHR32205:SF4,hmmpanther:PTHR32205	.	.	ENSP00000308149	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000312371	Transcript	.	.	ENSG00000174945	22231	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AMZ1_HUMAN	AMZ1	HGNC	B4DIY9_HUMAN,A4D202_HUMAN	.	UPI00001C1E77	SNV	AMZ1,missense_variant,p.Tyr48Asn,ENST00000407112,;AMZ1,missense_variant,p.Tyr48Asn,ENST00000312371,;AMZ1,upstream_gene_variant,,ENST00000489665,;AMZ1,upstream_gene_variant,,ENST00000485540,;AMZ1,upstream_gene_variant,,ENST00000480560,;	510	79	34	SUCCESS
AEBP1	165	.	GRCh37	7	44149920	44149920	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	101	313	0	ENST00000223357.3:c.1375A>C	p.Thr459Pro	p.T459P	ENST00000223357	NM_001129.4	459	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS5476.1	1375	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCACCCAG	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000223357	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000223357	Transcript	.	.	ENSG00000106624	303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	AEBP1_HUMAN	AEBP1	HGNC	B4DJB3_HUMAN	.	UPI00000746E2	SNV	AEBP1,missense_variant,p.Thr459Pro,ENST00000223357,;POLD2,downstream_gene_variant,,ENST00000406581,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000452185,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000450684,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,missense_variant,p.Thr20Pro,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000489883,;AEBP1,downstream_gene_variant,,ENST00000453052,;	1680	314	290	SUCCESS
NPC1L1	29881	.	GRCh37	7	44578770	44578770	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	13	172	0	ENST00000289547.4:c.1226A>T	p.Gln409Leu	p.Q409L	ENST00000289547	NM_013389.2	409	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5491.1	1226	MUTECT|MUSE	.	TCACCTGGTTG	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.677)	.	tolerated(0.09)	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,missense_variant,p.Gln409Leu,ENST00000546276,;NPC1L1,missense_variant,p.Gln409Leu,ENST00000381160,;NPC1L1,missense_variant,p.Gln409Leu,ENST00000423141,;NPC1L1,missense_variant,p.Gln409Leu,ENST00000289547,;	1282	172	195	SUCCESS
ZPBP	11055	.	GRCh37	7	50129226	50129226	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	85	0	ENST00000046087.2:c.207A>T		p.X69_splice	ENST00000046087	NM_007009.2	69	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5509.1	207	RADIA|MUTECT|MUSE|VARSCANS	.	ATACCTGGAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15443:SF5,hmmpanther:PTHR15443	.	.	ENSP00000046087	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000046087	Transcript	.	.	ENSG00000042813	15662	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZPBP1_HUMAN	ZPBP	HGNC	.	.	UPI0000073BD0	SNV	ZPBP,synonymous_variant,p.%3D,ENST00000419417,;ZPBP,synonymous_variant,p.%3D,ENST00000450231,;ZPBP,synonymous_variant,p.%3D,ENST00000046087,;ZPBP,splice_region_variant,,ENST00000413331,;	277	85	88	SUCCESS
HIP1	3092	.	GRCh37	7	75178268	75178268	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	238	10	145	0	ENST00000336926.6:c.2327A>T	p.Gln776Leu	p.Q776L	ENST00000336926	NM_005338.6	776	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34669.1	2327	MUTECT|MUSE	.	CCTCCTGCTTG	NONE	.	.	PROSITE_profiles:PS50945,hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407,Gene3D:1r0dB00,Superfamily_domains:SSF109885	.	.	ENSP00000336747	.	23/31	.	.	.	.	.	.	.	.	.	23/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	deleterious(0)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Gln776Leu,ENST00000434438,;HIP1,missense_variant,p.Gln776Leu,ENST00000336926,;	2354	145	249	SUCCESS
NXPH1	30010	.	GRCh37	7	8790840	8790840	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	51	145	0	ENST00000405863.1:c.257A>T	p.Asp86Val	p.D86V	ENST00000405863	NM_152745.2	86	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS47540.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGACCTCT	NONE	.	.	hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000384551	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000405863	Transcript	.	.	ENSG00000122584	20693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	tolerated(0.09)	.	NXPH1_HUMAN	NXPH1	HGNC	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN	.	UPI000000DC02	SNV	NXPH1,missense_variant,p.Asp86Val,ENST00000429542,;NXPH1,missense_variant,p.Asp86Val,ENST00000405863,;NXPH1,missense_variant,p.Asp86Val,ENST00000438764,;NXPH1,5_prime_UTR_variant,,ENST00000602349,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;	1168	145	152	SUCCESS
GET4	51608	.	GRCh37	7	925744	925744	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	125	0	ENST00000265857.3:c.207A>C	p.Gly69=	p.G69=	ENST00000265857	NM_015949.2	69	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS5317.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGAGCCCT	NONE	.	.	Pfam_domain:PF04190,hmmpanther:PTHR12875:SF0,hmmpanther:PTHR12875	.	.	ENSP00000265857	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000265857	Transcript	.	.	ENSG00000239857	21690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GET4_HUMAN	GET4	HGNC	C9JPA8_HUMAN	.	UPI00001AE543	SNV	GET4,synonymous_variant,p.%3D,ENST00000412734,;GET4,synonymous_variant,p.%3D,ENST00000407192,;GET4,synonymous_variant,p.%3D,ENST00000441491,;GET4,synonymous_variant,p.%3D,ENST00000265857,;GET4,upstream_gene_variant,,ENST00000426056,;RP11-449P15.2,non_coding_transcript_exon_variant,,ENST00000609998,;SUN1,missense_variant,p.Ser396Arg,ENST00000457861,;GET4,upstream_gene_variant,,ENST00000483469,;	301	125	97	SUCCESS
TRHR	7201	.	GRCh37	8	110099893	110099893	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs144587571	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	95	171	0	ENST00000311762.2:c.152T>C	p.Met51Thr	p.M51T	ENST00000311762	NM_003301.5	51	aTg/aCg	0	G:0.0002	.	.	.	.	C	M/T	protein_coding	YES	CCDS6311.1	152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATGAGAA	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF115,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	G:0	ENSP00000430711	.	2/3	.	.	.	.	.	.	.	.	rs144587571	2/3	PASS	ENST00000518632	Transcript	1	.	ENSG00000174417	12299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.01)	.	TRFR_HUMAN	TRHR	HGNC	.	.	UPI0000050437	SNV	TRHR,missense_variant,p.Met51Thr,ENST00000311762,;TRHR,missense_variant,p.Met51Thr,ENST00000518632,;	503	171	220	SUCCESS
TEX15	56154	.	GRCh37	8	30703652	30703652	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	88	0	ENST00000256246.2:c.2882A>T	p.Gln961Leu	p.Q961L	ENST00000256246	NM_031271.3	961	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6080.1	2882	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTTGGGAT	NONE	.	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	.	.	ENSP00000256246	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000256246	Transcript	.	.	ENSG00000133863	11738	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.856)	.	deleterious(0)	.	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,missense_variant,p.Gln961Leu,ENST00000256246,;TEX15,downstream_gene_variant,,ENST00000523186,;	2957	88	97	SUCCESS
RP1	6101	.	GRCh37	8	55541215	55541215	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	51	0	ENST00000220676.1:c.4773G>A	p.Trp1591Ter	p.W1591*	ENST00000220676	NM_006269.1	1591	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS6160.1	4773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGGTCAGA	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,stop_gained,p.Trp1591Ter,ENST00000220676,;	4921	51	58	SUCCESS
TRPA1	8989	.	GRCh37	8	72958812	72958812	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	29	0	ENST00000262209.4:c.1997C>A	p.Pro666Gln	p.P666Q	ENST00000262209	NM_007332.2	666	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS34908.1	1997	RADIA|MUTECT|MUSE|VARSCANS	.	CTAATGGACAT	NONE	.	.	hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5	.	.	ENSP00000262209	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Pro518Gln,ENST00000523582,;TRPA1,missense_variant,p.Pro666Gln,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000522271,;	2205	29	32	SUCCESS
SLC26A7	115111	.	GRCh37	8	92352644	92352644	+	synonymous_variant	Silent	SNP	T	T	A	rs373170016	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	12	130	0	ENST00000276609.3:c.891T>A	p.Pro297=	p.P297=	ENST00000276609	NM_052832.2	297	ccT/ccA	0	C:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS6255.1	891	MUTECT|MUSE	.	TCACCTAGAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	C:0	ENSP00000309504	.	8/19	.	.	.	.	.	.	.	.	rs373170016	8/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,synonymous_variant,p.%3D,ENST00000520818,;SLC26A7,synonymous_variant,p.%3D,ENST00000276609,;SLC26A7,synonymous_variant,p.%3D,ENST00000309536,;SLC26A7,synonymous_variant,p.%3D,ENST00000523719,;SLC26A7,upstream_gene_variant,,ENST00000520249,;SLC26A7,stop_lost,p.Ter270LysextTer13,ENST00000522181,;	1111	130	187	SUCCESS
ZNF462	58499	.	GRCh37	9	109734475	109734475	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	14	294	0	ENST00000277225.5:c.6617T>A	p.Ile2206Asn	p.I2206N	ENST00000277225		2206	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS35096.1	6617	MUTECT|MUSE	.	GAGCATCAGGC	NONE	.	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,SMART_domains:SM00355	.	.	ENSP00000277225	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,missense_variant,p.Ile2206Asn,ENST00000277225,;ZNF462,missense_variant,p.Ile163Asn,ENST00000542028,;ZNF462,missense_variant,p.Ile2266Asn,ENST00000457913,;ZNF462,missense_variant,p.Ile1112Asn,ENST00000441147,;ZNF462,missense_variant,p.Ile108Asn,ENST00000427098,;ZNF462,missense_variant,p.Ile1149Asn,ENST00000374686,;RP11-508N12.2,downstream_gene_variant,,ENST00000439901,;ZNF462,non_coding_transcript_exon_variant,,ENST00000482115,;ZNF462,non_coding_transcript_exon_variant,,ENST00000479166,;ZNF462,non_coding_transcript_exon_variant,,ENST00000469433,;	6906	294	201	SUCCESS
TNC	3371	.	GRCh37	9	117844994	117844994	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	54	179	0	ENST00000350763.4:c.2224T>A	p.Trp742Arg	p.W742R	ENST00000350763	NM_002160.3	742	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS6811.1	2224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCAGGTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000265131	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000350763	Transcript	.	.	ENSG00000041982	5318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TENA_HUMAN	TNC	HGNC	F5H5D6_HUMAN	.	UPI000013D5BD	SNV	TNC,missense_variant,p.Trp742Arg,ENST00000345230,;TNC,missense_variant,p.Trp742Arg,ENST00000542877,;TNC,missense_variant,p.Trp742Arg,ENST00000346706,;TNC,missense_variant,p.Trp742Arg,ENST00000537320,;TNC,missense_variant,p.Trp742Arg,ENST00000341037,;TNC,missense_variant,p.Trp742Arg,ENST00000350763,;TNC,missense_variant,p.Trp742Arg,ENST00000535648,;TNC,missense_variant,p.Trp742Arg,ENST00000340094,;TNC,missense_variant,p.Trp742Arg,ENST00000423613,;	2636	179	130	SUCCESS
LHX6	26468	.	GRCh37	9	124979380	124979380	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	7	172	0	ENST00000373755.2:c.562A>T	p.Met188Leu	p.M188L	ENST00000373755	NM_001242334.1	188	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS6838.2	649	MUTECT|MUSE	.	AATCATGGTGT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF10,Gene3D:2.10.110.10	.	.	ENSP00000377854	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000394319	Transcript	.	.	ENSG00000106852	21735	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	tolerated(0.3)	.	LHX6_HUMAN	LHX6	HGNC	H0YMY8_HUMAN,Q3SY65_HUMAN,H0YMH3_HUMAN	.	UPI0000E0BF7D	SNV	LHX6,start_lost,p.Met1?,ENST00000559895,;LHX6,missense_variant,p.Met188Leu,ENST00000373755,;LHX6,missense_variant,p.Met217Leu,ENST00000340587,;LHX6,missense_variant,p.Met217Leu,ENST00000394319,;LHX6,missense_variant,p.Met188Leu,ENST00000373754,;LHX6,missense_variant,p.Met206Leu,ENST00000541397,;LHX6,upstream_gene_variant,,ENST00000482062,;LHX6,upstream_gene_variant,,ENST00000464484,;LHX6,non_coding_transcript_exon_variant,,ENST00000558672,;LHX6,downstream_gene_variant,,ENST00000560152,;	754	172	108	SUCCESS
GLE1	2733	.	GRCh37	9	131287658	131287658	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	93	0	ENST00000309971.4:c.1085A>G	p.Glu362Gly	p.E362G	ENST00000309971	NM_001003722.1	362	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS35154.1	1085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGAGCCCC	NONE	.	.	hmmpanther:PTHR12960:SF0,hmmpanther:PTHR12960	.	.	ENSP00000308622	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000309971	Transcript	.	.	ENSG00000119392	4315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	deleterious(0.04)	.	GLE1_HUMAN	GLE1	HGNC	B3KMG0_HUMAN	.	UPI000013EF77	SNV	GLE1,missense_variant,p.Glu362Gly,ENST00000372770,;GLE1,missense_variant,p.Glu362Gly,ENST00000309971,;GLE1,missense_variant,p.Glu108Gly,ENST00000539582,;RP11-216B9.6,downstream_gene_variant,,ENST00000434999,;GLE1,non_coding_transcript_exon_variant,,ENST00000494417,;	1191	93	71	SUCCESS
CRAT	1384	.	GRCh37	9	131860591	131860591	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	22	174	0	ENST00000318080.2:c.1265C>T	p.Pro422Leu	p.P422L	ENST00000318080	NM_001257363.1	422	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6919.1	1265	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGGGAAG	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF50,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000315013	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000318080	Transcript	.	.	ENSG00000095321	2342	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.952)	.	tolerated(0.79)	.	CACP_HUMAN	CRAT	HGNC	.	.	UPI000014021A	SNV	CRAT,missense_variant,p.Pro21Leu,ENST00000455396,;CRAT,missense_variant,p.Pro422Leu,ENST00000318080,;RP11-247A12.1,intron_variant,,ENST00000434250,;CRAT,downstream_gene_variant,,ENST00000464290,;CRAT,upstream_gene_variant,,ENST00000467343,;CRAT,3_prime_UTR_variant,,ENST00000458362,;CRAT,downstream_gene_variant,,ENST00000415948,;	1560	174	150	SUCCESS
AK8	158067	.	GRCh37	9	135739158	135739158	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	15	122	0	ENST00000298545.3:c.227G>A	p.Trp76Ter	p.W76*	ENST00000298545	NM_152572.2	76	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS6954.1	227	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCACATT	NONE	.	.	hmmpanther:PTHR23359:SF64,hmmpanther:PTHR23359,Gene3D:3.40.50.300,Pfam_domain:PF00406,Superfamily_domains:SSF52540	.	.	ENSP00000298545	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000298545	Transcript	.	.	ENSG00000165695	26526	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAD8_HUMAN	AK8	HGNC	.	.	UPI0000071236	SNV	AK8,stop_gained,p.Trp76Ter,ENST00000298545,;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;AK8,upstream_gene_variant,,ENST00000482422,;	749	122	112	SUCCESS
TAF1L	138474	.	GRCh37	9	32630489	32630489	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776575588	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	34	264	0	ENST00000242310.4:c.5089A>G	p.Thr1697Ala	p.T1697A	ENST00000242310	NM_153809.2	1697	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS35003.1	5089	RADIA|MUSE|VARSCANS	.	GGCAGTGGAAA	NONE	byFrequency	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	rs776575588	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.05)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Thr1697Ala,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	5179	265	199	SUCCESS
NOL6	65083	.	GRCh37	9	33466415	33466415	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	66	170	0	ENST00000297990.4:c.2100A>T	p.Pro700=	p.P700=	ENST00000297990	NM_022917.4	700	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6543.1	2100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTGGGAA	NONE	.	.	Pfam_domain:PF03813,hmmpanther:PTHR17972	.	.	ENSP00000297990	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000297990	Transcript	.	.	ENSG00000165271	19910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL6_HUMAN	NOL6	HGNC	.	.	UPI0000050326	SNV	NOL6,synonymous_variant,p.%3D,ENST00000297990,;NOL6,synonymous_variant,p.%3D,ENST00000379471,;NOL6,synonymous_variant,p.%3D,ENST00000455041,;NOL6,intron_variant,,ENST00000353159,;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	2188	170	156	SUCCESS
PHF2	5253	.	GRCh37	9	96411461	96411461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	12	214	1	ENST00000359246.4:c.569T>A	p.Leu190His	p.L190H	ENST00000359246	NM_005392.3	190	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS35069.1	569	MUTECT|MUSE	.	GGTCCTCAACG	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Gene3D:1vrbA01,Superfamily_domains:SSF51197	.	.	ENSP00000352185	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,missense_variant,p.Leu190His,ENST00000359246,;PHF2,intron_variant,,ENST00000375376,;	936	215	179	SUCCESS
HNRNPH2	3188	.	GRCh37	X	100667970	100667970	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	181	129	0	ENST00000316594.5:c.994G>T	p.Asp332Tyr	p.D332Y	ENST00000316594	NM_001199974.1	332	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS14485.1	994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGATGTT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13976:SF33,hmmpanther:PTHR13976,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000361927	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000316594	Transcript	.	.	ENSG00000126945	5042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	HNRH2_HUMAN	HNRNPH2	HGNC	.	.	UPI0000134537	SNV	HNRNPH2,missense_variant,p.Asp332Tyr,ENST00000316594,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409170,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409338,;	1072	129	243	SUCCESS
SAGE1	55511	.	GRCh37	X	134983800	134983800	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	911	98	473	1	ENST00000324447.3:c.170C>G	p.Ser57Cys	p.S57C	ENST00000324447		57	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS14652.1	170	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTCTTCAT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000445959	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.823)	.	tolerated(0.13)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Ser57Cys,ENST00000370709,;SAGE1,missense_variant,p.Ser57Cys,ENST00000535938,;SAGE1,missense_variant,p.Ser57Cys,ENST00000537770,;SAGE1,missense_variant,p.Ser57Cys,ENST00000324447,;	337	474	1009	SUCCESS
PNMA5	114824	.	GRCh37	X	152159795	152159795	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	16	93	1	ENST00000361887.5:c.348T>A	p.Ser116Arg	p.S116R	ENST00000361887	NM_052926.2	116	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS14718.1	348	MUTECT|MUSE	.	GTCATACTTCG	NONE	.	.	Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF4	.	.	ENSP00000388850	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439251	Transcript	.	.	ENSG00000198883	18743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	PNMA5_HUMAN	PNMA5	HGNC	C9J4L3_HUMAN	.	UPI0000070F7D	SNV	PNMA5,missense_variant,p.Ser116Arg,ENST00000452693,;PNMA5,missense_variant,p.Ser116Arg,ENST00000439251,;PNMA5,missense_variant,p.Ser116Arg,ENST00000437210,;PNMA5,missense_variant,p.Ser116Arg,ENST00000535214,;PNMA5,missense_variant,p.Ser116Arg,ENST00000361887,;RN7SL190P,downstream_gene_variant,,ENST00000582519,;	787	94	233	SUCCESS
TKTL1	8277	.	GRCh37	X	153558006	153558006	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	15	86	0	ENST00000369915.3:c.1759A>T	p.Ile587Leu	p.I587L	ENST00000369915	NM_012253.3	587	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS35448.1	1759	MUTECT|MUSE	.	ATATCATAGTG	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF53,Gene3D:3.40.50.920,Superfamily_domains:SSF52922	.	.	ENSP00000358931	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000369915	Transcript	.	.	ENSG00000007350	11835	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious(0.03)	.	TKTL1_HUMAN	TKTL1	HGNC	Q5TYJ8_HUMAN,B7Z7I0_HUMAN	.	UPI0000211D08	SNV	TKTL1,missense_variant,p.Ile327Leu,ENST00000217905,;TKTL1,missense_variant,p.Ile531Leu,ENST00000369912,;TKTL1,missense_variant,p.Ile587Leu,ENST00000369915,;XX-FW83128A1.2,downstream_gene_variant,,ENST00000433825,;TKTL1,non_coding_transcript_exon_variant,,ENST00000463884,;TKTL1,downstream_gene_variant,,ENST00000482044,;TKTL1,downstream_gene_variant,,ENST00000465168,;	1948	86	207	SUCCESS
F8	2157	.	GRCh37	X	154158501	154158501	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	58	0	ENST00000360256.4:c.3564A>T	p.Pro1188=	p.P1188=	ENST00000360256	NM_000132.3	1188	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35457.1	3564	MUTECT|MUSE	.	CTGCTTGGAAA	NONE	.	.	hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,PIRSF_domain:PIRSF000354	.	.	ENSP00000353393	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,synonymous_variant,p.%3D,ENST00000360256,;	3765	58	114	SUCCESS
ZNF41	7592	.	GRCh37	X	47307358	47307358	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	183	94	0	ENST00000377065.4:c.1811A>G	p.Glu604Gly	p.E604G	ENST00000377065	NM_153380.2	604	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS14279.1	1811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTCTCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF82,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000366265	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377065	Transcript	.	.	ENSG00000147124	13107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZNF41_HUMAN	ZNF41	HGNC	.	.	UPI0000001C0E	SNV	ZNF41,missense_variant,p.Glu604Gly,ENST00000313116,;ZNF41,missense_variant,p.Glu614Gly,ENST00000397050,;ZNF41,missense_variant,p.Glu604Gly,ENST00000377065,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;	2451	94	214	SUCCESS
MIR98	407054	.	GRCh37	X	53583188	53583188	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	581	49	301	0	ENST00000606724.1:n.115A>T		p.*39*	ENST00000606724				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35301.1	.	MUTECT|MUSE	.	GTGAATATGCC	NONE	.	.	.	.	.	ENSP00000340648	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODIFIER	59/82	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,intron_variant,,ENST00000342160,;HUWE1,intron_variant,,ENST00000262854,;HUWE1,intron_variant,,ENST00000427052,;MIR98,non_coding_transcript_exon_variant,,ENST00000606724,;MIRLET7F2,downstream_gene_variant,,ENST00000385277,;	.	301	630	SUCCESS
HUWE1	10075	.	GRCh37	X	53672381	53672381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	6	48	0	ENST00000262854.6:c.386A>T	p.Gln129Leu	p.Q129L	ENST00000262854	NM_031407.5	129	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS35301.1	386	MUTECT|MUSE	.	CCACTTGCATA	NONE	.	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254,Pfam_domain:PF06012,Superfamily_domains:SSF48371	.	.	ENSP00000340648	.	6/83	.	.	.	.	.	.	.	.	.	6/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.259)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Gln129Leu,ENST00000218328,;HUWE1,missense_variant,p.Gln129Leu,ENST00000342160,;HUWE1,missense_variant,p.Gln129Leu,ENST00000262854,;HUWE1,downstream_gene_variant,,ENST00000446750,;	844	48	110	SUCCESS
NLGN4X	57502	.	GRCh37	X	6069270	6069270	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	304	22	143	0	ENST00000275857.6:c.238T>A	p.Ser80Thr	p.S80T	ENST00000275857	NM_020742.2	80	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS14126.1	238	MUTECT|MUSE	.	GGGTGAGGCAT	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(0.62)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Ser80Thr,ENST00000381092,;NLGN4X,missense_variant,p.Ser80Thr,ENST00000381095,;NLGN4X,missense_variant,p.Ser80Thr,ENST00000381093,;NLGN4X,missense_variant,p.Ser80Thr,ENST00000538097,;NLGN4X,missense_variant,p.Ser80Thr,ENST00000275857,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,downstream_gene_variant,,ENST00000483337,;	866	143	326	SUCCESS
CCDC147	0	.	GRCh37	10	106166547	106166547	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	12	82	0	ENST00000369704.3:c.2252T>G	p.Leu751Arg	p.L751R	ENST00000369704	NM_001008723.1	751	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS31282.1	2252	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTCCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF26	.	.	ENSP00000358718	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000369704	Transcript	.	.	ENSG00000120051	26676	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.863)	.	deleterious(0)	.	CC147_HUMAN	CCDC147	HGNC	B4DK97_HUMAN	.	UPI0000160405	SNV	CCDC147,missense_variant,p.Leu751Arg,ENST00000369704,;	2386	82	104	SUCCESS
FAM188A	0	.	GRCh37	10	15876612	15876612	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs187883529	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	46	0	ENST00000277632.3:c.580A>G	p.Ile194Val	p.I194V	ENST00000277632	NM_024948.2	194	Att/Gtt	0	C:0	C:0	.	C:0.0043	.	C	I/V	protein_coding	YES	CCDS7110.1	580	MUTECT|MUSE	.	TTCAATGCCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12473,Pfam_domain:PF13898	C:0	C:0.0002	ENSP00000277632	C:0.001	7/15	.	.	.	.	.	.	.	.	rs187883529	7/15	common_in_exac	ENST00000277632	Transcript	.	C:0.0016	ENSG00000148481	23578	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.454)	C:0.0041	tolerated(0.22)	.	F188A_HUMAN	FAM188A	HGNC	.	.	UPI000006E7F1	SNV	FAM188A,missense_variant,p.Ile47Val,ENST00000436829,;FAM188A,missense_variant,p.Ile194Val,ENST00000277632,;FAM188A,missense_variant,p.Ile34Val,ENST00000418767,;FAM188A,non_coding_transcript_exon_variant,,ENST00000477891,;	801	46	51	SUCCESS
NRP1	8829	.	GRCh37	10	33515205	33515205	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	9	82	0	ENST00000265371.4:c.994C>T	p.Leu332Phe	p.L332F	ENST00000265371		332	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7177.1	994	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGGCCCA	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF616,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,PIRSF_domain:PIRSF036960,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000265371	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000265371	Transcript	.	.	ENSG00000099250	8004	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(1)	.	NRP1_HUMAN	NRP1	HGNC	Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN	.	UPI000013D60A	SNV	NRP1,missense_variant,p.Leu332Phe,ENST00000395995,;NRP1,missense_variant,p.Leu332Phe,ENST00000374867,;NRP1,missense_variant,p.Leu332Phe,ENST00000265371,;NRP1,missense_variant,p.Leu151Phe,ENST00000374875,;NRP1,missense_variant,p.Leu332Phe,ENST00000374816,;NRP1,missense_variant,p.Leu332Phe,ENST00000374822,;NRP1,missense_variant,p.Leu332Phe,ENST00000432372,;NRP1,missense_variant,p.Leu332Phe,ENST00000374823,;NRP1,missense_variant,p.Leu332Phe,ENST00000374821,;	1520	82	94	SUCCESS
ZNF33A	7581	.	GRCh37	10	38345268	38345268	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	121	0	ENST00000458705.2:c.2213A>T	p.His738Leu	p.H738L	ENST00000458705		738	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS44372.1	2216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACATCAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF204,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000363747	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374618	Transcript	.	.	ENSG00000189180	13096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0)	.	ZN33A_HUMAN	ZNF33A	HGNC	.	.	UPI0000161788	SNV	ZNF33A,missense_variant,p.His745Leu,ENST00000432900,;ZNF33A,missense_variant,p.His738Leu,ENST00000307441,;ZNF33A,missense_variant,p.His738Leu,ENST00000458705,;ZNF33A,missense_variant,p.His739Leu,ENST00000374618,;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;	2394	121	113	SUCCESS
ZNF485	220992	.	GRCh37	10	44112662	44112662	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	78	0	ENST00000361807.3:c.1171T>C	p.Phe391Leu	p.F391L	ENST00000361807	NM_145312.3	391	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS7205.2	1171	MUTECT|MUSE|VARSCANS	.	AAGCCTTTCGG	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24376:SF14,hmmpanther:PTHR24376,PROSITE_profiles:PS50157	.	.	ENSP00000354694	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361807	Transcript	.	.	ENSG00000198298	23440	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN485_HUMAN	ZNF485	HGNC	C9JV60_HUMAN,B4DSE6_HUMAN,B2R8D6_HUMAN	.	UPI00000717FE	SNV	ZNF485,missense_variant,p.Phe300Leu,ENST00000374437,;ZNF485,missense_variant,p.Phe391Leu,ENST00000374435,;ZNF485,missense_variant,p.Phe391Leu,ENST00000361807,;ZNF485,downstream_gene_variant,,ENST00000430885,;	1365	78	76	SUCCESS
DDX50	79009	.	GRCh37	10	70679601	70679601	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	19	246	0	ENST00000373585.3:c.1103A>T	p.Gln368Leu	p.Q368L	ENST00000373585	NM_024045.1	368	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS7283.1	1103	MUSE|VARSCANS	.	CATCCAGTGTC	NONE	.	.	hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000362687	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.032)	.	tolerated(0.05)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Gln368Leu,ENST00000373585,;DDX50,non_coding_transcript_exon_variant,,ENST00000460470,;DDX50,upstream_gene_variant,,ENST00000466265,;	1210	246	194	SUCCESS
MAT1A	4143	.	GRCh37	10	82034339	82034339	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776048535	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	20	207	0	ENST00000372213.3:c.1022C>A	p.Thr341Lys	p.T341K	ENST00000372213	NM_000429.2	341	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS7365.1	1022	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGTCTTC	NONE	.	.	HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Gene3D:3.30.300.10,Pfam_domain:PF02773,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	.	.	ENSP00000361287	.	8/9	.	.	.	.	.	.	.	.	rs776048535	8/9	PASS	ENST00000372213	Transcript	1	.	ENSG00000151224	6903	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.035)	.	deleterious(0.03)	.	METK1_HUMAN	MAT1A	HGNC	.	.	UPI000012EFF3	SNV	MAT1A,missense_variant,p.Thr341Lys,ENST00000372213,;MAT1A,downstream_gene_variant,,ENST00000455001,;MAT1A,non_coding_transcript_exon_variant,,ENST00000480845,;MAT1A,non_coding_transcript_exon_variant,,ENST00000485270,;	1283	207	159	SUCCESS
MINPP1	9562	.	GRCh37	10	89312033	89312033	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763845361	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	6	173	0	ENST00000371996.4:c.1262A>G	p.His421Arg	p.H421R	ENST00000371996	NM_004897.4	421	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS7384.1	1262	MUTECT|MUSE	.	TTACCACTGTG	NONE	.	.	hmmpanther:PTHR20963,hmmpanther:PTHR20963:SF8,Pfam_domain:PF00328,Gene3D:3.40.50.1240,PIRSF_domain:PIRSF000894,Superfamily_domains:SSF53254	.	.	ENSP00000361064	.	5/5	.	.	.	.	.	.	.	.	rs763845361	5/5	PASS	ENST00000371996	Transcript	.	.	ENSG00000107789	7102	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.161)	.	tolerated(0.27)	.	MINP1_HUMAN	MINPP1	HGNC	B4E394_HUMAN	.	UPI0000035984	SNV	MINPP1,missense_variant,p.His421Arg,ENST00000371996,;MINPP1,missense_variant,p.His220Arg,ENST00000536010,;MINPP1,3_prime_UTR_variant,,ENST00000371994,;MINPP1,non_coding_transcript_exon_variant,,ENST00000472891,;	1303	173	154	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103027432	103027432	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	31	0	ENST00000375735.2:c.4060C>T	p.Pro1354Ser	p.P1354S	ENST00000375735	NM_001080463.1	1354	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44717.1	4060	MUTECT|MUSE	.	TGGAACCCATT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08393	.	.	ENSP00000381167	.	26/90	.	.	.	.	.	.	.	.	.	26/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Pro1354Ser,ENST00000398093,;DYNC2H1,missense_variant,p.Pro1354Ser,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	4060	31	22	SUCCESS
SIAE	54414	.	GRCh37	11	124517357	124517357	+	synonymous_variant	Silent	SNP	A	A	G	rs947925798	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	17	90	0	ENST00000263593.3:c.870T>C	p.Asn290=	p.N290=	ENST00000263593		290	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS8449.1	870	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAATTGTA	NONE	.	.	Superfamily_domains:SSF52266,Pfam_domain:PF03629,hmmpanther:PTHR22901	.	.	ENSP00000263593	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000263593	Transcript	.	.	ENSG00000110013	18187	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIAE_HUMAN	SIAE	HGNC	.	.	UPI0000073B2D	SNV	SIAE,synonymous_variant,p.%3D,ENST00000545756,;SIAE,synonymous_variant,p.%3D,ENST00000263593,;	1043	90	104	SUCCESS
IGSF9B	22997	.	GRCh37	11	133799610	133799610	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	12	138	0	ENST00000321016.8:c.1587G>A	p.Trp529Ter	p.W529*	ENST00000321016		529	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS61010.1	1587	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCCAGGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000436552	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,stop_gained,p.Trp529Ter,ENST00000533871,;IGSF9B,stop_gained,p.Trp529Ter,ENST00000321016,;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,;	1818	138	118	SUCCESS
CSRP3	8048	.	GRCh37	11	19206570	19206570	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377066670	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	14	143	0	ENST00000265968.3:c.437G>A	p.Arg146His	p.R146H	ENST00000265968		146	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS7848.1	437	RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CACAGCGGAAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24215,hmmpanther:PTHR24215:SF1,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	T:0.0001	ENSP00000431813	.	6/7	.	.	.	.	.	.	.	.	rs377066670,COSM1703694	6/7	PASS	ENST00000533783	Transcript	.	.	ENSG00000129170	2472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.998)	.	deleterious(0.04)	0,1	CSRP3_HUMAN	CSRP3	HGNC	A2TDB8_HUMAN	.	UPI000011DC5F	SNV	CSRP3,missense_variant,p.Arg146His,ENST00000533783,;CSRP3,missense_variant,p.Arg146His,ENST00000265968,;	678	143	128	SUCCESS
NELL1	4745	.	GRCh37	11	20805310	20805310	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	16	103	0	ENST00000357134.5:c.269T>C	p.Leu90Ser	p.L90S	ENST00000357134	NM_201551.1	90	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS7855.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTGGCCA	NONE	.	.	hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,Gene3D:2.60.120.200,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000349654	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000357134	Transcript	.	.	ENSG00000165973	7750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.17)	.	NELL1_HUMAN	NELL1	HGNC	K9UUD5_HUMAN	.	UPI000013E53D	SNV	NELL1,missense_variant,p.Leu90Ser,ENST00000325319,;NELL1,missense_variant,p.Leu90Ser,ENST00000357134,;NELL1,missense_variant,p.Leu118Ser,ENST00000298925,;NELL1,missense_variant,p.Leu90Ser,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000528046,;NELL1,non_coding_transcript_exon_variant,,ENST00000527873,;NELL1,non_coding_transcript_exon_variant,,ENST00000529595,;NELL1,non_coding_transcript_exon_variant,,ENST00000524738,;	421	103	85	SUCCESS
C11orf95	0	.	GRCh37	11	63531074	63531074	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	63	0	ENST00000433688.1:n.1872A>G		p.*624*	ENST00000433688				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58141.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCTTGATG	NONE	.	3717	.	.	.	ENSP00000367050	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377819	Transcript	.	.	ENSG00000133318	10469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RTN3_HUMAN	RTN3	HGNC	.	.	UPI00004546A2	SNV	RTN3,downstream_gene_variant,,ENST00000537981,;RTN3,downstream_gene_variant,,ENST00000356000,;RTN3,downstream_gene_variant,,ENST00000354497,;RTN3,downstream_gene_variant,,ENST00000339997,;RTN3,downstream_gene_variant,,ENST00000377819,;RTN3,downstream_gene_variant,,ENST00000341307,;C11orf95,non_coding_transcript_exon_variant,,ENST00000433688,;C11orf95,downstream_gene_variant,,ENST00000338498,;RP11-466C23.4,downstream_gene_variant,,ENST00000546282,;C11orf95,downstream_gene_variant,,ENST00000458348,;C11orf95,downstream_gene_variant,,ENST00000445014,;	.	63	38	SUCCESS
UCP3	7352	.	GRCh37	11	73717271	73717271	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	95	0	ENST00000314032.4:c.280A>T	p.Ile94Phe	p.I94F	ENST00000314032	NM_003356.3	94	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS8229.1	280	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGATGGAGG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF176,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000323740	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000314032	Transcript	.	.	ENSG00000175564	12519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.812)	.	deleterious(0)	.	UCP3_HUMAN	UCP3	HGNC	F5H3N5_HUMAN	.	UPI000003021D	SNV	UCP3,missense_variant,p.Ile94Phe,ENST00000314032,;UCP3,missense_variant,p.Ile94Phe,ENST00000426995,;UCP3,missense_variant,p.Ile94Phe,ENST00000544614,;UCP3,missense_variant,p.Ile94Phe,ENST00000348534,;UCP3,upstream_gene_variant,,ENST00000545271,;	833	95	79	SUCCESS
RNF169	254225	.	GRCh37	11	74546763	74546763	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1237352449	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	10	163	0	ENST00000299563.4:c.1115A>G	p.Asn372Ser	p.N372S	ENST00000299563	NM_001098638.1	372	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS41691.1	1115	MUTECT|MUSE	.	GAGCAATGACA	NONE	.	.	hmmpanther:PTHR23328:SF2,hmmpanther:PTHR23328	.	.	ENSP00000299563	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000299563	Transcript	.	.	ENSG00000166439	26961	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	RN169_HUMAN	RNF169	HGNC	.	.	UPI00001C1F15	SNV	RNF169,missense_variant,p.Asn372Ser,ENST00000299563,;RNF169,upstream_gene_variant,,ENST00000527301,;XRRA1,downstream_gene_variant,,ENST00000340360,;XRRA1,intron_variant,,ENST00000530562,;	1128	163	141	SUCCESS
TAF1D	79101	.	GRCh37	11	93472409	93472409	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	64	0	ENST00000323981.2:c.62A>G	p.Asn21Ser	p.N21S	ENST00000323981		21	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8293.1	62	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGATTTGCA	NONE	.	.	hmmpanther:PTHR14562	.	.	ENSP00000410409	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000448108	Transcript	.	.	ENSG00000166012	28759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	tolerated(0.18)	.	TAF1D_HUMAN	TAF1D	HGNC	H0YG36_HUMAN	.	UPI000006D0AF	SNV	TAF1D,missense_variant,p.Asn21Ser,ENST00000448108,;TAF1D,intron_variant,,ENST00000532455,;C11orf54,upstream_gene_variant,,ENST00000531650,;C11orf54,upstream_gene_variant,,ENST00000540113,;C11orf54,upstream_gene_variant,,ENST00000530620,;C11orf54,upstream_gene_variant,,ENST00000528099,;C11orf54,upstream_gene_variant,,ENST00000533585,;C11orf54,upstream_gene_variant,,ENST00000530279,;C11orf54,upstream_gene_variant,,ENST00000331239,;C11orf54,upstream_gene_variant,,ENST00000528288,;TAF1D,downstream_gene_variant,,ENST00000527690,;C11orf54,upstream_gene_variant,,ENST00000527003,;C11orf54,upstream_gene_variant,,ENST00000354421,;SNORA40,upstream_gene_variant,,ENST00000388090,;TAF1D,non_coding_transcript_exon_variant,,ENST00000532235,;TAF1D,upstream_gene_variant,,ENST00000546088,;C11orf54,upstream_gene_variant,,ENST00000531516,;TAF1D,upstream_gene_variant,,ENST00000530089,;TAF1D,missense_variant,p.Asn21Ser,ENST00000534770,;TAF1D,missense_variant,p.Asn21Ser,ENST00000526015,;TAF1D,missense_variant,p.Asn21Ser,ENST00000323981,;TAF1D,missense_variant,p.Asn21Ser,ENST00000527169,;TAF1D,non_coding_transcript_exon_variant,,ENST00000529508,;TAF1D,upstream_gene_variant,,ENST00000533794,;TAF1D,upstream_gene_variant,,ENST00000528734,;TAF1D,upstream_gene_variant,,ENST00000527068,;TAF1D,upstream_gene_variant,,ENST00000540232,;TAF1D,upstream_gene_variant,,ENST00000529794,;TAF1D,upstream_gene_variant,,ENST00000393259,;TAF1D,upstream_gene_variant,,ENST00000530769,;TAF1D,upstream_gene_variant,,ENST00000529435,;TAF1D,upstream_gene_variant,,ENST00000525928,;	713	64	69	SUCCESS
COX6A1	1337	.	GRCh37	12	120878337	120878337	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	25	212	0	ENST00000229379.2:c.327A>G	p.Glu109=	p.E109=	ENST00000229379	NM_004373.3	109	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS9197.1	327	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAATAAAG	NONE	.	.	hmmpanther:PTHR11504,hmmpanther:PTHR11504:SF2,Gene3D:1v54G00,PIRSF_domain:PIRSF000277	.	.	ENSP00000229379	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000229379	Transcript	.	.	ENSG00000111775	2277	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CX6A1_HUMAN	COX6A1	HGNC	Q9UEG9_HUMAN,H6SG15_HUMAN	.	UPI0000128144	SNV	COX6A1,synonymous_variant,p.%3D,ENST00000229379,;AL021546.6,intron_variant,,ENST00000551806,;TRIAP1,downstream_gene_variant,,ENST00000546954,;TRIAP1,downstream_gene_variant,,ENST00000302432,;COX6A1,non_coding_transcript_exon_variant,,ENST00000549525,;COX6A1,downstream_gene_variant,,ENST00000550009,;	364	212	181	SUCCESS
CACNA1C	775	.	GRCh37	12	2614096	2614096	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	14	153	0	ENST00000347598.4:c.1202T>C	p.Leu401Pro	p.L401P	ENST00000347598	NM_199460.2	401	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS44788.1	1202	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTCGGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000266376	.	8/49	.	.	.	.	.	.	.	.	.	8/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Leu401Pro,ENST00000399644,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399595,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000347598,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000402845,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000327702,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399629,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000480911,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399601,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399597,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399655,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399606,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399637,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000335762,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399621,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399638,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399591,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000344100,;CACNA1C,missense_variant,p.Leu401Pro,ENST00000399649,;CACNA1C,intron_variant,,ENST00000406454,;CACNA1C,intron_variant,,ENST00000399617,;CACNA1C,intron_variant,,ENST00000399634,;CACNA1C,intron_variant,,ENST00000399641,;CACNA1C,intron_variant,,ENST00000399603,;CACNA1C,intron_variant,,ENST00000491104,;	1202	153	137	SUCCESS
IQSEC3	440073	.	GRCh37	12	266301	266301	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	242	40	334	0	ENST00000538872.1:c.2264T>C	p.Ile755Thr	p.I755T	ENST00000538872		755	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS53728.1	2264	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCATTGAGG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000437554	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000538872	Transcript	.	.	ENSG00000120645	29193	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	IQEC3_HUMAN	IQSEC3	HGNC	.	.	UPI0000DBEEF0	SNV	IQSEC3,missense_variant,p.Ile755Thr,ENST00000538872,;IQSEC3,missense_variant,p.Ile452Thr,ENST00000382841,;IQSEC3,missense_variant,p.Ile755Thr,ENST00000326261,;	2382	334	282	SUCCESS
AKAP3	10566	.	GRCh37	12	4737905	4737905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	33	179	0	ENST00000228850.1:c.163G>A	p.Glu55Lys	p.E55K	ENST00000228850		55	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8531.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCTGCTG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,SMART_domains:SM00807	.	.	ENSP00000440994	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000545990	Transcript	.	.	ENSG00000111254	373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	deleterious(0.01)	.	AKAP3_HUMAN	AKAP3	HGNC	F5H7P4_HUMAN,F5H2S4_HUMAN	.	UPI000013C8DF	SNV	AKAP3,missense_variant,p.Glu55Lys,ENST00000540967,;AKAP3,missense_variant,p.Glu55Lys,ENST00000545990,;AKAP3,missense_variant,p.Glu55Lys,ENST00000228850,;AKAP3,missense_variant,p.Glu55Lys,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;	688	179	168	SUCCESS
LEMD3	23592	.	GRCh37	12	65633985	65633985	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs929953790	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	7	96	0	ENST00000308330.2:c.2093A>G	p.His698Arg	p.H698R	ENST00000308330	NM_014319.4	698	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS8972.1	2093	MUTECT|MUSE	.	TCCACATGTAC	NONE	.	.	hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428,Pfam_domain:PF09402	.	.	ENSP00000308369	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000308330	Transcript	.	.	ENSG00000174106	28887	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MAN1_HUMAN	LEMD3	HGNC	B4DI45_HUMAN	.	UPI000012EB75	SNV	LEMD3,missense_variant,p.His698Arg,ENST00000308330,;LEMD3,upstream_gene_variant,,ENST00000544506,;LEMD3,upstream_gene_variant,,ENST00000542032,;	2119	96	109	SUCCESS
PPP1R12A	4659	.	GRCh37	12	80199549	80199549	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	28	137	0	ENST00000261207.5:c.1824-1G>A		p.X608_splice	ENST00000261207	NM_001143885.1	608		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44947.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTACTATAG	NONE	.	.	.	.	.	ENSP00000389168	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000450142	Transcript	.	.	ENSG00000058272	7618	.	.	HIGH	13/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYPT1_HUMAN	PPP1R12A	HGNC	F8VW28_HUMAN	.	UPI0000073E69	SNV	PPP1R12A,splice_acceptor_variant,,ENST00000546369,;PPP1R12A,splice_acceptor_variant,,ENST00000261207,;PPP1R12A,splice_acceptor_variant,,ENST00000437004,;PPP1R12A,splice_acceptor_variant,,ENST00000450142,;PPP1R12A,splice_acceptor_variant,,ENST00000553081,;PPP1R12A,splice_acceptor_variant,,ENST00000550107,;AC073569.1,intron_variant,,ENST00000598624,;PPP1R12A,intron_variant,,ENST00000547131,;PPP1R12A,intron_variant,,ENST00000547330,;PPP1R12A,non_coding_transcript_exon_variant,,ENST00000550007,;PPP1R12A,downstream_gene_variant,,ENST00000550001,;	.	137	167	SUCCESS
OTOGL	283310	.	GRCh37	12	80746178	80746178	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	8	70	0	ENST00000547103.1:c.5306T>A	p.Phe1769Tyr	p.F1769Y	ENST00000547103		1769	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	.	5342	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTTTGATA	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	44/58	.	.	.	.	.	.	.	.	.	44/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	tolerated(0.09)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Phe1781Tyr,ENST00000458043,;OTOGL,missense_variant,p.Phe224Tyr,ENST00000298820,;OTOGL,missense_variant,p.Phe1769Tyr,ENST00000547103,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;	5348	71	87	SUCCESS
NALCN	259232	.	GRCh37	13	101726938	101726938	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	36	0	ENST00000251127.6:c.4030C>G	p.Leu1344Val	p.L1344V	ENST00000251127	NM_052867.2	1344	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS9498.1	4030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGAAACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000251127	.	36/44	.	.	.	.	.	.	.	.	COSM1706957	36/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.98)	.	deleterious(0.04)	1	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,missense_variant,p.Leu1344Val,ENST00000251127,;	4112	36	38	SUCCESS
NALCN	259232	.	GRCh37	13	101759941	101759941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	16	116	0	ENST00000251127.6:c.2476C>A	p.Leu826Ile	p.L826I	ENST00000251127	NM_052867.2	826	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS9498.1	2476	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGTTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037	.	.	ENSP00000251127	.	22/44	.	.	.	.	.	.	.	.	.	22/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.742)	.	deleterious(0.03)	.	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,missense_variant,p.Leu826Ile,ENST00000251127,;	2558	116	121	SUCCESS
LINC00283	0	.	GRCh37	13	103396874	103396874	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	73	0	ENST00000430111.1:n.1247T>A		p.*416*	ENST00000430111				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|MUSE	.	TCATGTATCCA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000430111	Transcript	.	.	ENSG00000231633	38809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LINC00283	HGNC	.	.	.	SNV	LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,;	1247	73	70	SUCCESS
FHP1	100873790	.	GRCh37	13	42830597	42830597	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs145446747	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	56	0	ENST00000442741.1:n.589T>C		p.*197*	ENST00000442741				0	.	C:0	.	C:0	.	C	.	processed_pseudogene	YES	.	.	MUTECT|MUSE	.	TGTTATTGAAC	NONE	by1000G	.	.	C:0	.	.	C:0.001	1/1	.	.	.	.	.	.	.	.	rs145446747	1/1	PASS	ENST00000442741	Transcript	.	C:0.0002	ENSG00000234213	39442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	.	FHP1	HGNC	.	.	.	SNV	DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;FHP1,non_coding_transcript_exon_variant,,ENST00000442741,;	589	56	69	SUCCESS
PCDH9	5101	.	GRCh37	13	67801110	67801110	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	26	150	0	ENST00000377865.2:c.1463T>A	p.Leu488Ter	p.L488*	ENST00000377865		488	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS9444.1	1463	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTAAGTAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,stop_gained,p.Leu488Ter,ENST00000377861,;PCDH9,stop_gained,p.Leu488Ter,ENST00000328454,;PCDH9,stop_gained,p.Leu488Ter,ENST00000544246,;PCDH9,stop_gained,p.Leu488Ter,ENST00000377865,;PCDH9,stop_gained,p.Leu488Ter,ENST00000456367,;	2155	150	171	SUCCESS
OR4K15	81127	.	GRCh37	14	20444564	20444564	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	7	181	0	ENST00000305051.5:c.887C>T	p.Ala296Val	p.A296V	ENST00000305051	NM_001005486.1	296	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32026.1	887	MUTECT|MUSE	.	CCTTGCTGTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF287,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305051	Transcript	.	.	ENSG00000169488	15353	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	OR4KF_HUMAN	OR4K15	HGNC	.	.	UPI000015F249	SNV	OR4K15,missense_variant,p.Ala296Val,ENST00000305051,;	962	181	188	SUCCESS
NUBPL	80224	.	GRCh37	14	32031297	32031297	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	64	0	ENST00000281081.7:c.132C>T	p.Thr44=	p.T44=	ENST00000281081	NM_025152.2	44	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41940.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCCTAAA	NONE	.	.	hmmpanther:PTHR23264,hmmpanther:PTHR23264:SF4	.	.	ENSP00000281081	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000281081	Transcript	.	.	ENSG00000151413	20278	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUBPL_HUMAN	NUBPL	HGNC	F8W061_HUMAN,B3KSK2_HUMAN	.	UPI00003669AB	SNV	NUBPL,synonymous_variant,p.%3D,ENST00000550649,;NUBPL,synonymous_variant,p.%3D,ENST00000550005,;NUBPL,synonymous_variant,p.%3D,ENST00000281081,;NUBPL,5_prime_UTR_variant,,ENST00000551314,;CTD-2213F21.3,upstream_gene_variant,,ENST00000548096,;CTD-2213F21.4,upstream_gene_variant,,ENST00000547093,;NUBPL,non_coding_transcript_exon_variant,,ENST00000548937,;NUBPL,non_coding_transcript_exon_variant,,ENST00000550355,;NUBPL,downstream_gene_variant,,ENST00000552814,;NUBPL,synonymous_variant,p.%3D,ENST00000552489,;NUBPL,synonymous_variant,p.%3D,ENST00000547839,;NUBPL,synonymous_variant,p.%3D,ENST00000549838,;	177	64	58	SUCCESS
ARHGAP5	394	.	GRCh37	14	32563379	32563379	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	10	142	0	ENST00000345122.3:c.3504T>A	p.Tyr1168Ter	p.Y1168*	ENST00000345122	NM_001030055.1	1168	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS32062.1	3504	MUTECT|MUSE	.	TACTATAGAAG	NONE	.	.	hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4	.	.	ENSP00000371897	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000345122	Transcript	.	.	ENSG00000100852	675	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG05_HUMAN	ARHGAP5	HGNC	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN	.	UPI000057B85C	SNV	ARHGAP5,stop_gained,p.Tyr1168Ter,ENST00000432921,;ARHGAP5,stop_gained,p.Tyr1168Ter,ENST00000539826,;ARHGAP5,stop_gained,p.Tyr1168Ter,ENST00000345122,;ARHGAP5,stop_gained,p.Tyr1168Ter,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,stop_gained,p.Tyr46Ter,ENST00000557643,;	3819	142	128	SUCCESS
NEMF	9147	.	GRCh37	14	50251367	50251367	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	56	0	ENST00000298310.5:c.3218T>G	p.Val1073Gly	p.V1073G	ENST00000298310		1073	gTa/gGa	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS9694.1	3218	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTACATTC	NONE	.	.	hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1	.	.	ENSP00000298310	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000298310	Transcript	.	.	ENSG00000165525	10663	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.17)	.	NEMF_HUMAN	NEMF	HGNC	.	.	UPI0000246D16	SNV	NEMF,missense_variant,p.Val273Gly,ENST00000382135,;NEMF,missense_variant,p.Val1073Gly,ENST00000298310,;NEMF,missense_variant,p.Val1052Gly,ENST00000546046,;NEMF,missense_variant,p.Val1031Gly,ENST00000545773,;NEMF,downstream_gene_variant,,ENST00000555970,;KLHDC2,downstream_gene_variant,,ENST00000298307,;KLHDC2,downstream_gene_variant,,ENST00000554589,;KLHDC2,downstream_gene_variant,,ENST00000557247,;NEMF,non_coding_transcript_exon_variant,,ENST00000556691,;NEMF,non_coding_transcript_exon_variant,,ENST00000556925,;NEMF,downstream_gene_variant,,ENST00000554275,;NEMF,downstream_gene_variant,,ENST00000555863,;NEMF,non_coding_transcript_exon_variant,,ENST00000556074,;KLHDC2,downstream_gene_variant,,ENST00000554115,;NEMF,downstream_gene_variant,,ENST00000557193,;KLHDC2,downstream_gene_variant,,ENST00000553579,;KLHDC2,downstream_gene_variant,,ENST00000556559,;KLHDC2,downstream_gene_variant,,ENST00000555443,;KLHDC2,downstream_gene_variant,,ENST00000557063,;KLHDC2,downstream_gene_variant,,ENST00000555739,;	3668	57	54	SUCCESS
IGHV1OR15-9	390531	.	GRCh37	15	20170098	20170098	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	10	109	0	ENST00000338912.5:c.174G>A	p.Gln58=	p.Q58=	ENST00000338912		58	caG/caA	0	.	.	.	.	.	T	Q	IG_V_gene	YES	.	174	MUTECT|MUSE|VARSCANS	.	TGGGCCTGGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000474639	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000338912	Transcript	.	.	ENSG00000188403	5569	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGHV1OR15-9	HGNC	.	.	UPI0000113A94	SNV	IGHV1OR15-9,synonymous_variant,p.%3D,ENST00000338912,;SLC20A1P3,downstream_gene_variant,,ENST00000555979,;	174	109	124	SUCCESS
MAGEL2	54551	.	GRCh37	15	23890789	23890789	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	92	0	ENST00000532292.1:c.292G>A	p.Val98Ile	p.V98I	ENST00000532292	NM_019066.4	98	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	.	292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTACCGGGG	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.36)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Val98Ile,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	387	92	70	SUCCESS
RYR3	6263	.	GRCh37	15	34080629	34080629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	124	1	ENST00000389232.4:c.9800C>A	p.Pro3267His	p.P3267H	ENST00000389232	NM_001036.3	3267	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS45210.1	9800	MUTECT|MUSE	.	CTACCCCATGC	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	67/104	.	.	.	.	.	.	.	.	.	67/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Pro3267His,ENST00000389232,;RYR3,missense_variant,p.Pro3267His,ENST00000415757,;	9870	125	115	SUCCESS
UBR1	197131	.	GRCh37	15	43318859	43318859	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	41	0	ENST00000290650.4:c.2435A>C	p.Lys812Thr	p.K812T	ENST00000290650	NM_174916.2	812	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS10091.1	2435	RADIA|MUTECT|MUSE	.	CTGGTTTCCTA	NONE	.	.	hmmpanther:PTHR21497:SF27,hmmpanther:PTHR21497,Superfamily_domains:SSF46785	.	.	ENSP00000290650	.	23/47	.	.	.	.	.	.	.	.	.	23/47	PASS	ENST00000290650	Transcript	1	.	ENSG00000159459	16808	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.579)	.	deleterious(0)	.	UBR1_HUMAN	UBR1	HGNC	.	.	UPI0000074467	SNV	UBR1,missense_variant,p.Glu794Asp,ENST00000382177,;UBR1,missense_variant,p.Lys812Thr,ENST00000290650,;UBR1,missense_variant,p.Lys2Thr,ENST00000569243,;UBR1,missense_variant,p.Glu139Asp,ENST00000569066,;UBR1,missense_variant,p.Lys12Thr,ENST00000564540,;UBR1,splice_region_variant,,ENST00000546274,;	2514	41	50	SUCCESS
DENND4A	10260	.	GRCh37	15	65994749	65994749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	7	163	0	ENST00000431932.2:c.2324G>T	p.Cys775Phe	p.C775F	ENST00000431932	NM_005848.3	775	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS53949.1	2324	MUTECT|MUSE	.	GGAGACAAATA	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Cys775Phe,ENST00000564674,;DENND4A,missense_variant,p.Cys775Phe,ENST00000443035,;DENND4A,missense_variant,p.Cys775Phe,ENST00000431932,;DENND4A,upstream_gene_variant,,ENST00000562028,;	2540	163	164	SUCCESS
CT62	196993	.	GRCh37	15	71404534	71404534	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	10	96	0	ENST00000449977.2:c.88A>T	p.Ser30Cys	p.S30C	ENST00000449977	NM_001102658.1	30	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS45295.1	88	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCTGAATG	NONE	.	.	.	.	.	ENSP00000399356	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000449977	Transcript	.	.	ENSG00000225362	27286	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.843)	.	deleterious_low_confidence(0)	.	CT62_HUMAN	CT62	HGNC	H3BQ22_HUMAN	.	UPI000016137F	SNV	CT62,missense_variant,p.Ser30Cys,ENST00000567117,;CT62,missense_variant,p.Ser30Cys,ENST00000566432,;CT62,missense_variant,p.Ser30Cys,ENST00000449977,;THSD4,intron_variant,,ENST00000355327,;CT62,upstream_gene_variant,,ENST00000564862,;	595	96	86	SUCCESS
THSD4	79875	.	GRCh37	15	71548960	71548960	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	10	100	0	ENST00000355327.3:c.921A>G	p.Pro307=	p.P307=	ENST00000355327		307	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS10238.2	921	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAGAAAG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF16	.	.	ENSP00000347484	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000355327	Transcript	.	.	ENSG00000187720	25835	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THSD4_HUMAN	THSD4	HGNC	.	.	UPI00001A797D	SNV	THSD4,synonymous_variant,p.%3D,ENST00000355327,;THSD4,synonymous_variant,p.%3D,ENST00000261862,;	1055	100	93	SUCCESS
MIR1179	100302235	.	GRCh37	15	89151428	89151428	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs764931793	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	7	158	0	ENST00000408703.1:n.91T>C		p.*31*	ENST00000408703				0	.	.	.	.	.	C	.	miRNA	YES	.	.	MUTECT|MUSE	.	CTAGCTGAGTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs764931793	1/1	PASS	ENST00000408703	Transcript	.	.	ENSG00000221630	35260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MIR1179	HGNC	.	.	.	SNV	MIR1179,non_coding_transcript_exon_variant,,ENST00000408703,;MIR7-2,upstream_gene_variant,,ENST00000384970,;RP11-97O12.2,upstream_gene_variant,,ENST00000560368,;RP11-97O12.2,upstream_gene_variant,,ENST00000558835,;RP11-97O12.2,upstream_gene_variant,,ENST00000506090,;	91	158	146	SUCCESS
KDM8	79831	.	GRCh37	16	27232040	27232040	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	21	177	0	ENST00000286096.4:c.1240T>C	p.Trp414Arg	p.W414R	ENST00000286096	NM_024773.2	414	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS45448.1	1354	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTGGTGG	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR12461:SF11,hmmpanther:PTHR12461,Pfam_domain:PF13621,Gene3D:1vrbA01,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000398410	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000441782	Transcript	.	.	ENSG00000155666	25840	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KDM8_HUMAN	KDM8	HGNC	H3BR76_HUMAN,H3BM39_HUMAN,B4DPM6_HUMAN	.	UPI00017A73AE	SNV	KDM8,missense_variant,p.Trp452Arg,ENST00000441782,;KDM8,missense_variant,p.Trp218Arg,ENST00000380948,;KDM8,missense_variant,p.Trp218Arg,ENST00000568965,;KDM8,missense_variant,p.Trp414Arg,ENST00000286096,;KDM8,3_prime_UTR_variant,,ENST00000567735,;NSMCE1,downstream_gene_variant,,ENST00000562039,;NSMCE1,downstream_gene_variant,,ENST00000361439,;KDM8,non_coding_transcript_exon_variant,,ENST00000567785,;NSMCE1,downstream_gene_variant,,ENST00000565384,;KDM8,downstream_gene_variant,,ENST00000567366,;KDM8,non_coding_transcript_exon_variant,,ENST00000569592,;NSMCE1,downstream_gene_variant,,ENST00000569236,;KDM8,downstream_gene_variant,,ENST00000568792,;KDM8,downstream_gene_variant,,ENST00000563571,;NSMCE1,downstream_gene_variant,,ENST00000565070,;	1472	177	188	SUCCESS
ATXN2L	11273	.	GRCh37	16	28846411	28846411	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	20	174	0	ENST00000336783.4:c.2466A>G	p.Pro822=	p.P822=	ENST00000336783	NM_007245.3	822	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS10640.1	2466	RADIA|MUTECT|MUSE|VARSCANS	.	AACCCACGCAT	NONE	.	.	hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8	.	.	ENSP00000378917	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000395547	Transcript	.	.	ENSG00000168488	31326	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATX2L_HUMAN	ATXN2L	HGNC	H3BSQ5_HUMAN	.	UPI000016783F	SNV	ATXN2L,synonymous_variant,p.%3D,ENST00000395547,;ATXN2L,synonymous_variant,p.%3D,ENST00000336783,;ATXN2L,synonymous_variant,p.%3D,ENST00000382686,;ATXN2L,synonymous_variant,p.%3D,ENST00000325215,;ATXN2L,synonymous_variant,p.%3D,ENST00000570200,;ATXN2L,synonymous_variant,p.%3D,ENST00000564304,;ATXN2L,synonymous_variant,p.%3D,ENST00000566946,;ATXN2L,synonymous_variant,p.%3D,ENST00000340394,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000569318,;ATXN2L,upstream_gene_variant,,ENST00000567024,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,synonymous_variant,p.%3D,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000561732,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000562686,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000564035,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000564284,;	2633	174	143	SUCCESS
ZNF646	9726	.	GRCh37	16	31088438	31088438	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	16	163	0	ENST00000394979.2:c.793A>G	p.Ile265Val	p.I265V	ENST00000394979		265	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS10702.1	793	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCATCTAC	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182	.	.	ENSP00000300850	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000300850	Transcript	.	.	ENSG00000167395	29004	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(1)	.	ZN646_HUMAN	ZNF646	HGNC	H3BSD0_HUMAN,C9J3L0_HUMAN	.	UPI00001FFF54	SNV	ZNF646,missense_variant,p.Ile265Val,ENST00000394979,;ZNF646,missense_variant,p.Ile265Val,ENST00000300850,;ZNF668,upstream_gene_variant,,ENST00000417935,;ZNF668,upstream_gene_variant,,ENST00000414399,;ZNF668,upstream_gene_variant,,ENST00000300849,;ZNF668,upstream_gene_variant,,ENST00000538906,;ZNF668,upstream_gene_variant,,ENST00000394983,;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;ZNF668,upstream_gene_variant,,ENST00000564456,;	1082	163	134	SUCCESS
NOD2	64127	.	GRCh37	16	50744637	50744637	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	104	0	ENST00000300589.2:c.815G>A	p.Ser272Asn	p.S272N	ENST00000300589	NM_022162.1	272	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS10746.1	815	MUTECT|MUSE|VARSCANS	.	GAAGAGCCCAG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64	.	.	ENSP00000300589	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000300589	Transcript	.	.	ENSG00000167207	5331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.17)	.	NOD2_HUMAN	NOD2	HGNC	Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN	.	UPI000005027A	SNV	NOD2,missense_variant,p.Ser272Asn,ENST00000300589,;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,non_coding_transcript_exon_variant,,ENST00000532206,;NOD2,non_coding_transcript_exon_variant,,ENST00000526417,;NOD2,3_prime_UTR_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000527052,;NOD2,upstream_gene_variant,,ENST00000534067,;	920	104	88	SUCCESS
CDH11	1009	.	GRCh37	16	64981642	64981642	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	7	151	0	ENST00000268603.4:c.2255C>A	p.Ala752Asp	p.A752D	ENST00000268603	NM_001797.2	752	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS10803.1	2255	MUTECT|MUSE	.	ACCCGGCCACT	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000268603	.	13/13	.	.	.	.	.	.	.	.	COSM268862	13/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Ala752Asp,ENST00000268603,;CDH11,missense_variant,p.Ala626Asp,ENST00000566827,;CDH11,3_prime_UTR_variant,,ENST00000394156,;	2871	151	116	SUCCESS
CDH11	1009	.	GRCh37	16	64981643	64981643	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	7	151	0	ENST00000268603.4:c.2254G>A	p.Ala752Thr	p.A752T	ENST00000268603	NM_001797.2	752	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10803.1	2254	MUTECT|MUSE	.	CCCGGCCACTG	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049	.	.	ENSP00000268603	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Ala752Thr,ENST00000268603,;CDH11,missense_variant,p.Ala626Thr,ENST00000566827,;CDH11,3_prime_UTR_variant,,ENST00000394156,;	2870	151	117	SUCCESS
FBXO31	79791	.	GRCh37	16	87376465	87376487	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GCCGGCTGGTGGGCTCACCTCCT	GCCGGCTGGTGGGCTCACCTCCT	-	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	GCCGGCTGGTGGGCTCACCTCCT	GCCGGCTGGTGGGCTCACCTCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	131	15	175	0	ENST00000311635.7:c.728_732+18del		p.X243_splice	ENST00000311635	NM_024735.3	243		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32501.1	728-?	INDELOCATOR*|PINDEL	.	CACAGGGCCGGCTGGTGGGCTCACCTCCTGCCTC	NONE	.	.	.	.	.	ENSP00000310841	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000311635	Transcript	.	.	ENSG00000103264	16510	.	.	HIGH	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX31_HUMAN	FBXO31	HGNC	H3BUC7_HUMAN	.	UPI000021D235	deletion	FBXO31,splice_donor_variant,,ENST00000563113,;FBXO31,splice_donor_variant,,ENST00000311635,;FBXO31,downstream_gene_variant,,ENST00000561664,;FBXO31,intron_variant,,ENST00000565593,;	741-?	175	146	SUCCESS
MYH4	4622	.	GRCh37	17	10356573	10356573	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	37	211	1	ENST00000255381.2:c.3007C>T	p.Leu1003Phe	p.L1003F	ENST00000255381	NM_017533.2	1003	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS11154.1	3007	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGAGCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Superfamily_domains:SSF90257	.	.	ENSP00000255381	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	SNV	MYH4,missense_variant,p.Leu1003Phe,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3118	212	236	SUCCESS
SLC5A10	125206	.	GRCh37	17	18872410	18872410	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	9	183	0	ENST00000395645.3:c.499T>G	p.Trp167Gly	p.W167G	ENST00000395645	NM_001042450.2	167	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS11201.2	499	MUTECT|MUSE	.	TGGGCTGGAAC	NONE	.	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF57,hmmpanther:PTHR11819,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813	.	.	ENSP00000379008	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000395647	Transcript	.	.	ENSG00000154025	23155	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SC5AA_HUMAN	SLC5A10	HGNC	.	.	UPI00001401D2	SNV	SLC5A10,missense_variant,p.Trp167Gly,ENST00000417251,;SLC5A10,missense_variant,p.Trp167Gly,ENST00000395647,;SLC5A10,missense_variant,p.Trp167Gly,ENST00000395643,;SLC5A10,missense_variant,p.Trp111Gly,ENST00000395642,;SLC5A10,missense_variant,p.Trp167Gly,ENST00000395645,;SLC5A10,missense_variant,p.Trp111Gly,ENST00000317977,;FAM83G,3_prime_UTR_variant,,ENST00000388995,;FAM83G,downstream_gene_variant,,ENST00000585154,;FAM83G,downstream_gene_variant,,ENST00000345041,;	540	183	130	SUCCESS
UBBP4	23666	.	GRCh37	17	21730727	21730727	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1466959789	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	50	0	ENST00000578713.1:c.29G>T	p.Gly10Val	p.G10V	ENST00000578713		10	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	29	MUTECT|MUSE|VARSCANS	.	TACCGGCAAGA	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000464265	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000578713	Transcript	.	.	ENSG00000263563	12467	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	.	UBBP4	HGNC	J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN	.	UPI000268AF41	SNV	UBBP4,missense_variant,p.Gly10Val,ENST00000584398,;UBBP4,missense_variant,p.Gly10Val,ENST00000578713,;UBBP4,missense_variant,p.Gly10Val,ENST00000583708,;UBBP4,missense_variant,p.Gly10Val,ENST00000581769,;UBBP4,missense_variant,p.Gly10Val,ENST00000584755,;UBBP4,upstream_gene_variant,,ENST00000581775,;	33	50	42	SUCCESS
CCL13	6357	.	GRCh37	17	32685070	32685070	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758137997	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	11	90	0	ENST00000225844.2:c.217A>G	p.Ile73Val	p.I73V	ENST00000225844	NM_005408.2	73	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11281.1	217	MUTECT|MUSE|VARSCANS	.	AGGAGATCTGT	NONE	.	.	hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF86,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117	.	.	ENSP00000225844	.	3/3	.	.	.	.	.	.	.	.	rs758137997	3/3	PASS	ENST00000225844	Transcript	.	.	ENSG00000181374	10611	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.628)	.	tolerated(0.37)	.	CCL13_HUMAN	CCL13	HGNC	.	.	UPI00000339BE	SNV	CCL13,missense_variant,p.Ile38Val,ENST00000577681,;CCL13,missense_variant,p.Ile73Val,ENST00000225844,;CCL1,downstream_gene_variant,,ENST00000225842,;	292	90	120	SUCCESS
CCL16	6360	.	GRCh37	17	34308501	34308501	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	87	0	ENST00000293275.3:c.-45A>G		p.*15*	ENST00000293275	NM_004590.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11303.1	.	MUTECT|MUSE|VARSCANS	.	GAAGATGTTGT	NONE	.	.	.	.	.	ENSP00000293275	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000293275	Transcript	.	.	ENSG00000161573	10614	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCL16_HUMAN	CCL16	HGNC	.	.	UPI00001362D8	SNV	CCL16,5_prime_UTR_variant,,ENST00000293275,;CCL14,downstream_gene_variant,,ENST00000480944,;CCL14,downstream_gene_variant,,ENST00000394509,;CTB-186H2.3,upstream_gene_variant,,ENST00000591669,;CCL14,downstream_gene_variant,,ENST00000586216,;CCL14,downstream_gene_variant,,ENST00000435911,;CCL14,downstream_gene_variant,,ENST00000536149,;CTB-186H2.3,upstream_gene_variant,,ENST00000593057,;CCL15-CCL14,downstream_gene_variant,,ENST00000481427,;CCL16,upstream_gene_variant,,ENST00000586567,;CCL15-CCL14,downstream_gene_variant,,ENST00000495214,;CCL16,upstream_gene_variant,,ENST00000483259,;	32	87	67	SUCCESS
ITGAE	3682	.	GRCh37	17	3680880	3680880	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772032855	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	115	0	ENST00000263087.4:c.109G>A	p.Val37Met	p.V37M	ENST00000263087	NM_002208.4	37	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS32531.1	109	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACGAAAG	NONE	byFrequency	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF74,Gene3D:3nigC00	.	.	ENSP00000263087	.	2/31	.	.	.	.	.	.	.	.	rs772032855	2/31	PASS	ENST00000263087	Transcript	.	.	ENSG00000083457	6147	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.341)	.	deleterious(0.02)	.	ITAE_HUMAN	ITGAE	HGNC	.	.	UPI000049DE2D	SNV	ITGAE,missense_variant,p.Val37Met,ENST00000263087,;	208	116	123	SUCCESS
WNK4	65266	.	GRCh37	17	40945608	40945615	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	AGGTATAT	AGGTATAT	-	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	AGGTATAT	AGGTATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	123	13	137	0	ENST00000246914.5:c.2158-1_2164del		p.X720_splice	ENST00000246914	NM_032387.4	720		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11439.1	?-2163	INDELOCATOR*|PINDEL	.	CTCGCAAGGTATATAACGA	NONE	.	.	.	.	.	ENSP00000246914	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000246914	Transcript	.	.	ENSG00000126562	14544	1	.	HIGH	11/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WNK4_HUMAN	WNK4	HGNC	B0LPI0_HUMAN	.	UPI000006FC0F	deletion	WNK4,splice_acceptor_variant,,ENST00000246914,;WNK4,upstream_gene_variant,,ENST00000587745,;COA3,downstream_gene_variant,,ENST00000328434,;WNK4,splice_acceptor_variant,,ENST00000592072,;WNK4,splice_acceptor_variant,,ENST00000591448,;COA3,downstream_gene_variant,,ENST00000586680,;	?-2184	137	136	SUCCESS
CAMTA2	23125	.	GRCh37	17	4876952	4876952	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765389294	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	88	0	ENST00000348066.3:c.2129G>A	p.Arg710Gln	p.R710Q	ENST00000348066	NM_015099.3	710	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS54072.1	2198	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCGGAAG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF4,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000412886	.	13/23	.	.	.	.	.	.	.	.	rs765389294	13/23	PASS	ENST00000414043	Transcript	.	.	ENSG00000108509	18807	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.842)	.	deleterious(0.02)	.	CMTA2_HUMAN	CAMTA2	HGNC	.	.	UPI0001892BAE	SNV	CAMTA2,missense_variant,p.Arg710Gln,ENST00000348066,;CAMTA2,missense_variant,p.Arg733Gln,ENST00000414043,;CAMTA2,missense_variant,p.Arg712Gln,ENST00000381311,;CAMTA2,missense_variant,p.Arg710Gln,ENST00000358183,;CAMTA2,missense_variant,p.Arg715Gln,ENST00000572543,;CAMTA2,missense_variant,p.Arg709Gln,ENST00000361571,;RP5-1050D4.2,intron_variant,,ENST00000430920,;RP5-1050D4.3,downstream_gene_variant,,ENST00000576752,;CAMTA2,intron_variant,,ENST00000572326,;CAMTA2,downstream_gene_variant,,ENST00000575365,;CAMTA2,3_prime_UTR_variant,,ENST00000574951,;CAMTA2,upstream_gene_variant,,ENST00000574442,;CAMTA2,upstream_gene_variant,,ENST00000572192,;CAMTA2,downstream_gene_variant,,ENST00000575192,;CAMTA2,upstream_gene_variant,,ENST00000576872,;	2352	88	75	SUCCESS
SPAG9	9043	.	GRCh37	17	49048126	49048126	+	synonymous_variant	Silent	SNP	C	C	A	rs112947211	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	14	166	0	ENST00000262013.7:c.3792G>T	p.Thr1264=	p.T1264=	ENST00000262013	NM_001130528.2	1264	acG/acT	0	T:0.0005	T:0	.	T:0	.	A	T	protein_coding	YES	CCDS45740.1	3792	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGCGTCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR13886	T:0	T:0	ENSP00000262013	T:0	29/30	.	.	.	.	.	.	.	.	rs112947211	29/30	PASS	ENST00000262013	Transcript	.	T:0.0002	ENSG00000008294	14524	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	SNV	SPAG9,synonymous_variant,p.%3D,ENST00000510283,;SPAG9,synonymous_variant,p.%3D,ENST00000505279,;SPAG9,synonymous_variant,p.%3D,ENST00000357122,;SPAG9,synonymous_variant,p.%3D,ENST00000262013,;SPAG9,non_coding_transcript_exon_variant,,ENST00000506500,;SPAG9,downstream_gene_variant,,ENST00000513746,;	4001	166	122	SUCCESS
KIF2B	84643	.	GRCh37	17	51901391	51901391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771563360	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	16	109	0	ENST00000268919.4:c.997G>A	p.Ala333Thr	p.A333T	ENST00000268919	NM_032559.4	333	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32685.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGCACAG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	rs771563360	1/1	PASS	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(0.07)	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,missense_variant,p.Ala333Thr,ENST00000268919,;	1153	109	112	SUCCESS
KCNH6	81033	.	GRCh37	17	61613399	61613399	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749594163	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	12	138	0	ENST00000583023.1:c.1471G>A	p.Val491Ile	p.V491I	ENST00000583023	NM_030779.3	491	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS11638.1	1471	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGTCTTC	NONE	byFrequency	.	Prints_domain:PR01463,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	.	.	ENSP00000463533	.	6/14	.	.	.	.	.	.	.	.	rs749594163	6/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	tolerated(1)	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,missense_variant,p.Val491Ile,ENST00000580652,;KCNH6,missense_variant,p.Val438Ile,ENST00000581784,;KCNH6,missense_variant,p.Val491Ile,ENST00000583023,;KCNH6,missense_variant,p.Val438Ile,ENST00000456941,;KCNH6,missense_variant,p.Val491Ile,ENST00000314672,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	1482	138	126	SUCCESS
NPLOC4	55666	.	GRCh37	17	79589216	79589216	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	80	0	ENST00000331134.6:c.185A>T	p.Lys62Ile	p.K62I	ENST00000331134	NM_017921.2	62	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS45812.1	185	RADIA|MUTECT|MUSE|VARSCANS	.	GGGATTTGTTG	NONE	.	.	hmmpanther:PTHR12710,Pfam_domain:PF11543,Gene3D:3.10.20.90,PIRSF_domain:PIRSF010052,Superfamily_domains:SSF54236	.	.	ENSP00000331487	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000331134	Transcript	.	.	ENSG00000182446	18261	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.284)	.	deleterious(0.01)	.	NPL4_HUMAN	NPLOC4	HGNC	.	.	UPI0000070BDD	SNV	NPLOC4,missense_variant,p.Lys62Ile,ENST00000374747,;NPLOC4,missense_variant,p.Lys62Ile,ENST00000331134,;NPLOC4,5_prime_UTR_variant,,ENST00000539314,;NPLOC4,non_coding_transcript_exon_variant,,ENST00000570300,;NPLOC4,missense_variant,p.Lys62Ile,ENST00000574897,;	401	80	77	SUCCESS
ARHGEF15	22899	.	GRCh37	17	8216404	8216404	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1446881098	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	10	75	1	ENST00000361926.3:c.766A>G	p.Ile256Val	p.I256V	ENST00000361926	NM_173728.3	256	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11139.1	766	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCATCGGT	NONE	.	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7	.	.	ENSP00000355026	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000361926	Transcript	.	.	ENSG00000198844	15590	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.68)	.	ARHGF_HUMAN	ARHGEF15	HGNC	J3QS60_HUMAN,J3KT46_HUMAN	.	UPI000013D2C0	SNV	ARHGEF15,missense_variant,p.Ile256Val,ENST00000361926,;ARHGEF15,missense_variant,p.Ile256Val,ENST00000421050,;ARHGEF15,downstream_gene_variant,,ENST00000579439,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;ARHGEF15,missense_variant,p.Ile16Val,ENST00000581809,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;	876	76	87	SUCCESS
POTEC	388468	.	GRCh37	18	14537808	14537808	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	41	311	0	ENST00000358970.5:c.802A>G	p.Lys268Glu	p.K268E	ENST00000358970	NM_001137671.1	268	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS45835.1	802	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTTTGATT	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF00023,Superfamily_domains:SSF48403	.	.	ENSP00000351856	.	3/11	.	.	.	.	.	.	.	.	COSM3524341	3/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.358)	.	tolerated(0.06)	1	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,missense_variant,p.Lys268Glu,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Lys268Glu,ENST00000511306,;	802	311	290	SUCCESS
MYOM1	8736	.	GRCh37	18	3155037	3155037	+	synonymous_variant	Silent	SNP	C	C	T	rs745600639	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	7	69	0	ENST00000356443.4:c.1551G>A	p.Lys517=	p.K517=	ENST00000356443	NM_019856.1	517	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS45824.1	1551	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCACTTCAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000348821	.	11/38	.	.	.	.	.	.	.	.	rs745600639	11/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,synonymous_variant,p.%3D,ENST00000356443,;MYOM1,synonymous_variant,p.%3D,ENST00000400569,;MYOM1,synonymous_variant,p.%3D,ENST00000261606,;	1885	69	64	SUCCESS
MOCOS	55034	.	GRCh37	18	33778679	33778679	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	9	193	0	ENST00000261326.5:c.259A>G	p.Ser87Gly	p.S87G	ENST00000261326	NM_017947.2	87	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS11919.1	259	MUTECT|MUSE	.	TCAGCAGCAAG	NONE	.	.	Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050	.	.	ENSP00000261326	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000261326	Transcript	.	.	ENSG00000075643	18234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	tolerated(0.08)	.	MOCOS_HUMAN	MOCOS	HGNC	.	.	UPI000013D165	SNV	MOCOS,missense_variant,p.Ser87Gly,ENST00000261326,;	280	193	205	SUCCESS
SERPINB3	6317	.	GRCh37	18	61325772	61325772	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760017019	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	90	0	ENST00000283752.5:c.444C>A	p.Asn148Lys	p.N148K	ENST00000283752	NM_006919.2	148	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS11987.1	444	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGTTAAT	NONE	byFrequency	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000283752	.	5/8	.	.	.	.	.	.	.	.	rs760017019	5/8	PASS	ENST00000283752	Transcript	.	.	ENSG00000057149	10569	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,missense_variant,p.Asn148Lys,ENST00000332821,;SERPINB3,missense_variant,p.Asn148Lys,ENST00000283752,;SERPINB11,intron_variant,,ENST00000489748,;	588	90	89	SUCCESS
ADNP2	22850	.	GRCh37	18	77895740	77895740	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs113879497	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	84	0	ENST00000262198.4:c.2444A>T	p.Asn815Ile	p.N815I	ENST00000262198	NM_014913.3	815	aAt/aTt	0	G:0.0002	G:0.0008	.	G:0	.	T	N/I	protein_coding	YES	CCDS32853.1	2444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAATGGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740	G:0.0169	G:0	ENSP00000262198	G:0	4/4	.	.	.	.	.	.	.	.	rs113879497	4/4	PASS	ENST00000262198	Transcript	.	G:0.0036	ENSG00000101544	23803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	G:0	deleterious(0.01)	.	ADNP2_HUMAN	ADNP2	HGNC	H0YLN6_HUMAN	.	UPI0000071DEA	SNV	ADNP2,missense_variant,p.Asn815Ile,ENST00000262198,;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;ADNP2,downstream_gene_variant,,ENST00000560752,;	2899	84	86	SUCCESS
NDUFV2	4729	.	GRCh37	18	9119504	9119504	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	97	0	ENST00000318388.6:c.216A>G	p.Glu72=	p.E72=	ENST00000318388	NM_021074.4	72	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS11842.1	216	MUTECT|MUSE|VARSCANS	.	CCAGAAGGCCA	NONE	.	.	hmmpanther:PTHR10371,hmmpanther:PTHR10371:SF3,Pfam_domain:PF01257,TIGRFAM_domain:TIGR01958,Superfamily_domains:SSF52833	.	.	ENSP00000327268	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000318388	Transcript	.	.	ENSG00000178127	7717	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDUV2_HUMAN	NDUFV2	HGNC	.	.	UPI0000052A59	SNV	NDUFV2,synonymous_variant,p.%3D,ENST00000318388,;NDUFV2,synonymous_variant,p.%3D,ENST00000400033,;RP11-143J12.2,downstream_gene_variant,,ENST00000582375,;RP11-143J12.3,upstream_gene_variant,,ENST00000579467,;RP11-143J12.2,downstream_gene_variant,,ENST00000583081,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000465096,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000483511,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;RP11-21J18.1,intron_variant,,ENST00000578850,;NDUFV2,downstream_gene_variant,,ENST00000583375,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000474350,;NDUFV2,downstream_gene_variant,,ENST00000577703,;	330	97	90	SUCCESS
KEAP1	9817	.	GRCh37	19	10600002	10600002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	175	0	ENST00000171111.5:c.1574A>G	p.Tyr525Cys	p.Y525C	ENST00000171111	NM_203500.1	525	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS12239.1	1574	MUTECT|MUSE	.	CATCATAGCCC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Tyr525Cys,ENST00000393623,;KEAP1,missense_variant,p.Tyr525Cys,ENST00000171111,;KEAP1,intron_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,synonymous_variant,p.%3D,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;KEAP1,downstream_gene_variant,,ENST00000585845,;	2122	175	136	SUCCESS
ZFP82	284406	.	GRCh37	19	36884090	36884090	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	92	0	ENST00000392161.3:c.1152T>G	p.His384Gln	p.H384Q	ENST00000392161	NM_133466.2	384	caT/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS12493.1	1152	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGATGGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000431265	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392161	Transcript	.	.	ENSG00000181007	28682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZFP82_HUMAN	ZFP82	HGNC	D3Y299_HUMAN	.	UPI0000071159	SNV	ZFP82,missense_variant,p.His384Gln,ENST00000392171,;ZFP82,missense_variant,p.His384Gln,ENST00000392161,;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	1395	92	100	SUCCESS
WDR87	83889	.	GRCh37	19	38376997	38376997	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	48	0	ENST00000303868.5:c.7197G>C	p.Glu2399Asp	p.E2399D	ENST00000303868	NM_031951.3	2399	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS46063.1	7197	MUTECT|MUSE	.	TTCATCTCCAG	NONE	.	.	.	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Glu2438Asp,ENST00000447313,;WDR87,missense_variant,p.Glu2399Asp,ENST00000303868,;	7422	48	38	SUCCESS
CIC	23152	.	GRCh37	19	42798805	42798805	+	synonymous_variant	Silent	SNP	A	A	G	rs1032540294	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	124	0	ENST00000575354.2:c.4377A>G	p.Pro1459=	p.P1459=	ENST00000575354	NM_015125.3	1459	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS12601.1	4377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCATACTC	NONE	.	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	.	.	ENSP00000458663	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,synonymous_variant,p.%3D,ENST00000576505,;CIC,synonymous_variant,p.%3D,ENST00000575354,;CIC,synonymous_variant,p.%3D,ENST00000573349,;CIC,synonymous_variant,p.%3D,ENST00000572681,;CIC,synonymous_variant,p.%3D,ENST00000160740,;PAFAH1B3,downstream_gene_variant,,ENST00000262890,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;CIC,3_prime_UTR_variant,,ENST00000575287,;CIC,non_coding_transcript_exon_variant,,ENST00000571033,;	4417	124	101	SUCCESS
CHMP2A	27243	.	GRCh37	19	59063031	59063031	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	65	0	ENST00000312547.2:c.654C>A	p.Asn218Lys	p.N218K	ENST00000312547	NM_014453.2	218	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS12986.1	654	MUTECT|MUSE	.	CGCAGGTTCTT	NONE	.	.	hmmpanther:PTHR10476,hmmpanther:PTHR10476:SF4	.	.	ENSP00000469240	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000600118	Transcript	.	.	ENSG00000130724	30216	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.1)	.	CHM2A_HUMAN	CHMP2A	HGNC	M0R1L7_HUMAN,M0QXX8_HUMAN	.	UPI000000DB96	SNV	CHMP2A,missense_variant,p.Asn218Lys,ENST00000312547,;CHMP2A,missense_variant,p.Asn218Lys,ENST00000600118,;CHMP2A,missense_variant,p.Asn218Lys,ENST00000601220,;CHMP2A,missense_variant,p.Asn223Lys,ENST00000600006,;TRIM28,downstream_gene_variant,,ENST00000341753,;TRIM28,downstream_gene_variant,,ENST00000253024,;UBE2M,downstream_gene_variant,,ENST00000596985,;TRIM28,downstream_gene_variant,,ENST00000594806,;TRIM28,downstream_gene_variant,,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000596708,;UBE2M,downstream_gene_variant,,ENST00000253023,;CHMP2A,downstream_gene_variant,,ENST00000597848,;TRIM28,downstream_gene_variant,,ENST00000593582,;UBE2M,downstream_gene_variant,,ENST00000595957,;UBE2M,downstream_gene_variant,,ENST00000599829,;CHMP2A,downstream_gene_variant,,ENST00000600804,;TRIM28,downstream_gene_variant,,ENST00000597172,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,downstream_gene_variant,,ENST00000598355,;TRIM28,downstream_gene_variant,,ENST00000597423,;TRIM28,downstream_gene_variant,,ENST00000597618,;TRIM28,downstream_gene_variant,,ENST00000601150,;TRIM28,downstream_gene_variant,,ENST00000595974,;TRIM28,downstream_gene_variant,,ENST00000597995,;TRIM28,downstream_gene_variant,,ENST00000595028,;UBE2M,downstream_gene_variant,,ENST00000593801,;TRIM28,downstream_gene_variant,,ENST00000600840,;	1080	65	54	SUCCESS
CD70	970	.	GRCh37	19	6586092	6586092	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	82	0	ENST00000245903.3:c.521C>A	p.Thr174Lys	p.T174K	ENST00000245903	NM_001252.3	174	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS12170.1	521	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGTCCCA	NONE	.	.	PROSITE_profiles:PS50049,hmmpanther:PTHR15152:SF0,hmmpanther:PTHR15152,Pfam_domain:PF00229,Gene3D:2.60.120.40,SMART_domains:SM00207,Superfamily_domains:SSF49842	.	.	ENSP00000245903	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000245903	Transcript	.	.	ENSG00000125726	11937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	CD70_HUMAN	CD70	HGNC	Q53XX4_HUMAN,M0QZW2_HUMAN	.	UPI00001370B6	SNV	CD70,missense_variant,p.Thr174Lys,ENST00000245903,;CD70,intron_variant,,ENST00000423145,;CD70,downstream_gene_variant,,ENST00000597430,;	671	82	86	SUCCESS
MUC16	94025	.	GRCh37	19	9059729	9059729	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	24	336	0	ENST00000397910.4:c.27717C>G	p.Ser9239=	p.S9239=	ENST00000397910	NM_024690.2	9239	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS54212.1	27717	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGGAAGG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	27921	336	252	SUCCESS
OR7D4	125958	.	GRCh37	19	9324952	9324952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	44	252	0	ENST00000308682.2:c.562G>T	p.Ala188Ser	p.A188S	ENST00000308682	NM_001005191.2	188	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32901.1	562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCCACCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000310488	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000308682	Transcript	.	.	ENSG00000174667	8380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	deleterious(0.04)	.	OR7D4_HUMAN	OR7D4	HGNC	.	.	UPI00000472B5	SNV	OR7D4,missense_variant,p.Ala188Ser,ENST00000308682,;	591	252	186	SUCCESS
PALMD	54873	.	GRCh37	1	100154912	100154912	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	12	140	0	ENST00000263174.4:c.1096A>C	p.Lys366Gln	p.K366Q	ENST00000263174	NM_017734.4	366	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS758.1	1096	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAAAGCCA	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5	.	.	ENSP00000263174	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.486)	.	tolerated(0.27)	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,missense_variant,p.Lys366Gln,ENST00000605497,;PALMD,missense_variant,p.Lys366Gln,ENST00000263174,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;	1471	140	116	SUCCESS
COL11A1	1301	.	GRCh37	1	103364507	103364507	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	50	0	ENST00000370096.3:c.4130A>G	p.Lys1377Arg	p.K1377R	ENST00000370096	NM_001854.3	1377	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS778.1	4130	MUTECT|MUSE	.	CACCTTTTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	55/67	.	.	.	.	.	.	.	.	.	55/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Lys1261Arg,ENST00000512756,;COL11A1,missense_variant,p.Lys1338Arg,ENST00000353414,;COL11A1,missense_variant,p.Lys1377Arg,ENST00000370096,;COL11A1,missense_variant,p.Lys1389Arg,ENST00000358392,;	4443	50	60	SUCCESS
OVGP1	5016	.	GRCh37	1	111969869	111969869	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	37	0	ENST00000369732.3:c.26-156A>G		p.*9*	ENST00000369732	NM_002557.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS834.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTTCCTAG	NONE	.	.	.	.	.	ENSP00000358747	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369732	Transcript	.	.	ENSG00000085465	8524	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OVGP1_HUMAN	OVGP1	HGNC	Q9UJZ3_HUMAN	.	UPI0000130C53	SNV	OVGP1,5_prime_UTR_variant,,ENST00000540696,;OVGP1,intron_variant,,ENST00000369732,;RP11-552M11.8,downstream_gene_variant,,ENST00000564771,;OVGP1,upstream_gene_variant,,ENST00000481495,;	.	37	39	SUCCESS
SPAG17	200162	.	GRCh37	1	118548101	118548101	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	7	90	0	ENST00000336338.5:c.4712A>T	p.Tyr1571Phe	p.Y1571F	ENST00000336338	NM_206996.2	1571	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS899.1	4712	MUTECT|MUSE|VARSCANS	.	TGATGTACCTG	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	32/49	.	.	.	.	.	.	.	.	.	32/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Tyr51Phe,ENST00000437255,;SPAG17,missense_variant,p.Tyr1571Phe,ENST00000336338,;	4778	90	91	SUCCESS
FLG	2312	.	GRCh37	1	152281931	152281931	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	359	58	343	1	ENST00000368799.1:c.5431G>T	p.Asp1811Tyr	p.D1811Y	ENST00000368799	NM_002016.1	1811	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS30860.1	5431	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCCTGAC	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	COSM1498416	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.861)	.	.	1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Asp1811Tyr,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5467	344	417	SUCCESS
SPRR2B	6701	.	GRCh37	1	153043186	153043186	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749709146	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	22	188	0	ENST00000368755.2:c.130C>T	p.Pro44Ser	p.P44S	ENST00000368755		44	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30865.1	130	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGCTGTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Prints_domain:PR00021,Prints_domain:PR01217,Pfam_domain:PF14820,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF29	.	.	ENSP00000340703	.	2/2	.	.	.	.	.	.	.	.	rs749709146	2/2	PASS	ENST00000341611	Transcript	.	.	ENSG00000196805	11262	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SPR2B_HUMAN	SPRR2B	HGNC	.	.	UPI0000135D6F	SNV	SPRR2B,missense_variant,p.Pro44Ser,ENST00000368755,;SPRR2B,missense_variant,p.Pro44Ser,ENST00000368752,;SPRR2B,missense_variant,p.Pro44Ser,ENST00000341611,;	193	188	171	SUCCESS
THBS3	7059	.	GRCh37	1	155168361	155168361	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	216	18	254	0	ENST00000368378.3:c.1913A>T	p.Asn638Ile	p.N638I	ENST00000368378	NM_007112.4	638	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS1099.1	1913	MUTECT|MUSE|VARSCANS	.	GGCAGTTGTCC	NONE	.	.	PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,Pfam_domain:PF02412,Gene3D:1ux6A01,Superfamily_domains:0044556	.	.	ENSP00000357362	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,missense_variant,p.Asn638Ile,ENST00000368378,;THBS3,missense_variant,p.Asn35Ile,ENST00000541576,;THBS3,missense_variant,p.Asn167Ile,ENST00000541990,;THBS3,missense_variant,p.Asn518Ile,ENST00000457183,;MIR92B,downstream_gene_variant,,ENST00000607575,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000454348,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000447623,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000436772,;RP11-263K19.4,upstream_gene_variant,,ENST00000453136,;RP11-263K19.4,upstream_gene_variant,,ENST00000422665,;RP11-263K19.4,upstream_gene_variant,,ENST00000430312,;THBS3,non_coding_transcript_exon_variant,,ENST00000465596,;THBS3,downstream_gene_variant,,ENST00000486260,;THBS3,downstream_gene_variant,,ENST00000460050,;THBS3,3_prime_UTR_variant,,ENST00000428962,;THBS3,downstream_gene_variant,,ENST00000496332,;THBS3,upstream_gene_variant,,ENST00000498500,;THBS3,upstream_gene_variant,,ENST00000469769,;	1934	254	235	SUCCESS
OR10T2	128360	.	GRCh37	1	158368778	158368778	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776253890	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	55	0	ENST00000334438.1:c.479C>A	p.Ala160Asp	p.A160D	ENST00000334438	NM_001004475.1	160	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS30895.1	479	MUTECT|MUSE	.	TGGTGGCCACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF98,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000334115	.	1/1	.	.	.	.	.	.	.	.	rs776253890	1/1	PASS	ENST00000334438	Transcript	.	.	ENSG00000186306	14816	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.832)	.	tolerated(0.53)	.	O10T2_HUMAN	OR10T2	HGNC	.	.	UPI000003F220	SNV	OR10T2,missense_variant,p.Ala160Asp,ENST00000334438,;	479	55	80	SUCCESS
HSD17B7	51478	.	GRCh37	1	162760596	162760596	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	473	67	467	0	ENST00000254521.3:c.6A>G	p.Arg2=	p.R2=	ENST00000254521	NM_016371.2	2	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS1242.1	6	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGAAAGGT	NONE	.	.	hmmpanther:PTHR24316:SF314,hmmpanther:PTHR24316	.	.	ENSP00000254521	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000254521	Transcript	.	.	ENSG00000132196	5215	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DHB7_HUMAN	HSD17B7	HGNC	.	.	UPI000004C64C	SNV	HSD17B7,synonymous_variant,p.%3D,ENST00000367913,;HSD17B7,synonymous_variant,p.%3D,ENST00000367917,;HSD17B7,synonymous_variant,p.%3D,ENST00000367915,;HSD17B7,synonymous_variant,p.%3D,ENST00000254521,;DDR2,downstream_gene_variant,,ENST00000367922,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000485405,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000463037,;HSD17B7,synonymous_variant,p.%3D,ENST00000466176,;	61	467	541	SUCCESS
POGK	57645	.	GRCh37	1	166818288	166818288	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770518724	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	55	270	0	ENST00000367875.1:c.472A>G	p.Ile158Val	p.I158V	ENST00000367875		158	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1254.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATATCACA	NONE	byFrequency	.	hmmpanther:PTHR19303:SF21,hmmpanther:PTHR19303	.	.	ENSP00000356849	.	5/5	.	.	.	.	.	.	.	.	rs770518724	5/5	PASS	ENST00000367875	Transcript	.	.	ENSG00000143157	18800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.15)	.	POGK_HUMAN	POGK	HGNC	Q5TIJ2_HUMAN	.	UPI0000167816	SNV	POGK,missense_variant,p.Ile158Val,ENST00000449930,;POGK,missense_variant,p.Ile158Val,ENST00000367876,;POGK,missense_variant,p.Ile73Val,ENST00000536514,;POGK,missense_variant,p.Ile40Val,ENST00000537173,;POGK,missense_variant,p.Ile158Val,ENST00000367875,;	832	270	303	SUCCESS
TNR	7143	.	GRCh37	1	175331876	175331876	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745503260	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	10	271	0	ENST00000263525.2:c.2777C>T	p.Ala926Val	p.A926V	ENST00000263525	NM_003285.2	926	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1318.1	2777	MUTECT|MUSE	.	CGGTAGCTGGG	BUFFER|p.E930K|c.2788G>A|6,BUFFER|p.Y929Y|c.2787C>T|3,BUFFER|p.T927T|c.2781C>A|3,BUFFER|p.T927A|c.2779A>G|4	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	14/23	.	.	.	.	.	.	.	.	rs745503260	14/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Ala926Val,ENST00000367674,;TNR,missense_variant,p.Ala926Val,ENST00000263525,;	3486	271	334	SUCCESS
PTPRC	5788	.	GRCh37	1	198682109	198682109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	7	100	0	ENST00000442510.2:c.1199G>A	p.Cys400Tyr	p.C400Y	ENST00000442510		400	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS1397.2	1199	MUTECT|MUSE	.	TTTTTGTAGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,PIRSF_domain:PIRSF002004,Superfamily_domains:SSF49265	.	.	ENSP00000411355	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious(0.01)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Cys239Tyr,ENST00000348564,;PTPRC,missense_variant,p.Cys350Tyr,ENST00000352140,;PTPRC,missense_variant,p.Cys400Tyr,ENST00000442510,;PTPRC,missense_variant,p.Cys237Tyr,ENST00000594404,;PTPRC,missense_variant,p.Cys398Tyr,ENST00000367376,;PTPRC,missense_variant,p.Cys286Tyr,ENST00000530727,;PTPRC,missense_variant,p.Cys334Tyr,ENST00000367367,;PTPRC,downstream_gene_variant,,ENST00000367379,;PTPRC,missense_variant,p.Cys352Tyr,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000491302,;	1340	100	120	SUCCESS
MARK1	4139	.	GRCh37	1	220826560	220826560	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	9	206	0	ENST00000366917.4:c.1854G>A	p.Gln618=	p.Q618=	ENST00000366917	NM_001286124.1	618	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS31029.2	1854	MUTECT|MUSE	.	GAACAGCTCCG	NONE	.	.	hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346	.	.	ENSP00000355884	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000366917	Transcript	.	.	ENSG00000116141	6896	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MARK1_HUMAN	MARK1	HGNC	B4DIB3_HUMAN	.	UPI0000048D8B	SNV	MARK1,synonymous_variant,p.%3D,ENST00000366918,;MARK1,synonymous_variant,p.%3D,ENST00000402574,;MARK1,synonymous_variant,p.%3D,ENST00000366917,;	2120	206	204	SUCCESS
OBSCN	84033	.	GRCh37	1	228559645	228559645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	7	143	0	ENST00000422127.1:c.21166T>C	p.Cys7056Arg	p.C7056R	ENST00000422127	NM_001098623.2	7056	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS59204.1	24037	MUTECT|MUSE	.	CCCCATGCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	.	ENSP00000455507	.	105/116	.	.	.	.	.	.	.	.	.	105/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.742)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Cys4690Arg,ENST00000366707,;OBSCN,missense_variant,p.Cys1673Arg,ENST00000441106,;OBSCN,missense_variant,p.Cys7056Arg,ENST00000422127,;OBSCN,missense_variant,p.Cys8013Arg,ENST00000570156,;	24111	143	156	SUCCESS
EPHB2	2048	.	GRCh37	1	23233358	23233358	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779022970	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	20	132	0	ENST00000400191.3:c.2044G>A	p.Val682Ile	p.V682I	ENST00000400191	NM_004442.6	682	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS230.1	2047	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGTCATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000363763	.	11/16	.	.	.	.	.	.	.	.	rs779022970	11/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(1)	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,missense_variant,p.Val677Ile,ENST00000374627,;EPHB2,missense_variant,p.Val683Ile,ENST00000374632,;EPHB2,missense_variant,p.Val682Ile,ENST00000400191,;EPHB2,missense_variant,p.Val682Ile,ENST00000374630,;	2060	133	154	SUCCESS
PANK4	55229	.	GRCh37	1	2458029	2458029	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	18	147	0	ENST00000378466.3:c.-3A>G		p.*1*	ENST00000378466	NM_018216.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTGAAAG	NONE	.	.	.	.	.	ENSP00000367727	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000378466	Transcript	.	.	ENSG00000157881	19366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PANK4_HUMAN	PANK4	HGNC	.	.	UPI000000DA54	SNV	PANK4,5_prime_UTR_variant,,ENST00000435556,;PANK4,5_prime_UTR_variant,,ENST00000378466,;HES5,downstream_gene_variant,,ENST00000378453,;PANK4,upstream_gene_variant,,ENST00000491212,;PANK4,5_prime_UTR_variant,,ENST00000502770,;PANK4,non_coding_transcript_exon_variant,,ENST00000514922,;PANK4,upstream_gene_variant,,ENST00000486396,;	11	147	102	SUCCESS
OR2M5	127059	.	GRCh37	1	248308834	248308834	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs150844237	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	432	22	353	0	ENST00000366476.1:c.385C>G	p.Pro129Ala	p.P129A	ENST00000366476	NM_001004690.1	129	Cct/Gct	0	T:0	.	.	.	.	G	P/A	protein_coding	YES	CCDS31105.1	385	MUTECT|MUSE	.	GCCACCCTCTA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	T:0.0001	ENSP00000355432	.	1/1	.	.	.	.	.	.	.	.	rs150844237,COSM3486986	1/1	PASS	ENST00000366476	Transcript	.	.	ENSG00000162727	19576	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.589)	.	deleterious(0.01)	0,1	OR2M5_HUMAN	OR2M5	HGNC	.	.	UPI00001612E2	SNV	OR2M5,missense_variant,p.Pro129Ala,ENST00000366476,;	385	353	454	SUCCESS
OR2T12	127064	.	GRCh37	1	248458173	248458173	+	synonymous_variant	Silent	SNP	A	A	G	rs766390040	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	621	17	566	0	ENST00000317996.1:c.708T>C	p.Phe236=	p.F236=	ENST00000317996	NM_001004692.1	236	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS31110.1	708	MUTECT|MUSE	.	GTGGCAAAGGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	rs766390040	1/1	PASS	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,synonymous_variant,p.%3D,ENST00000317996,;	708	566	638	SUCCESS
OR2T11	127077	.	GRCh37	1	248789769	248789769	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	16	179	0	ENST00000330803.2:c.661A>G	p.Thr221Ala	p.T221A	ENST00000330803	NM_001001964.1	221	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31122.1	661	MUTECT|MUSE|VARSCANS	.	GATGGTTAACA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF173,PROSITE_profiles:PS50262	.	.	ENSP00000328934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330803	Transcript	.	.	ENSG00000183130	19574	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.464)	.	tolerated(0.45)	.	O2T11_HUMAN	OR2T11	HGNC	.	.	UPI000004F23F	SNV	OR2T11,missense_variant,p.Thr221Ala,ENST00000330803,;	723	179	200	SUCCESS
ZMYND12	84217	.	GRCh37	1	42921631	42921631	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	49	0	ENST00000372565.3:c.38G>A	p.Arg13His	p.R13H	ENST00000372565	NM_032257.4	13	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS467.1	38	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGCGCCCC	NONE	.	.	hmmpanther:PTHR12298,Superfamily_domains:SSF144232	.	.	ENSP00000361646	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000372565	Transcript	.	.	ENSG00000066185	21192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.03)	.	ZMY12_HUMAN	ZMYND12	HGNC	.	.	UPI000020587B	SNV	ZMYND12,missense_variant,p.Arg13His,ENST00000372565,;ZMYND12,5_prime_UTR_variant,,ENST00000433602,;PPCS,upstream_gene_variant,,ENST00000455780,;PPCS,upstream_gene_variant,,ENST00000372561,;PPCS,upstream_gene_variant,,ENST00000372562,;PPCS,upstream_gene_variant,,ENST00000372560,;PPCS,upstream_gene_variant,,ENST00000372556,;ZMYND12,non_coding_transcript_exon_variant,,ENST00000461083,;PPCS,upstream_gene_variant,,ENST00000471420,;PPCS,upstream_gene_variant,,ENST00000482168,;PPCS,upstream_gene_variant,,ENST00000472013,;PPCS,upstream_gene_variant,,ENST00000469615,;	308	49	48	SUCCESS
USP24	23358	.	GRCh37	1	55624627	55624627	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs529133449	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	11	215	0	ENST00000294383.6:c.1151A>G	p.Asp384Gly	p.D384G	ENST00000294383	NM_015306.2	384	gAt/gGt	0	.	C:0	.	C:0	.	C	D/G	protein_coding	YES	CCDS44154.2	1151	MUTECT|MUSE	.	GGTCATCCACA	NONE	by1000G	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349,Low_complexity_(Seg):seg	C:0	.	ENSP00000294383	C:0	10/68	.	.	.	.	.	.	.	.	rs529133449	10/68	PASS	ENST00000294383	Transcript	.	C:0.0002	ENSG00000162402	12623	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	C:0.001	deleterious(0.04)	.	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	SNV	USP24,missense_variant,p.Asp272Gly,ENST00000407756,;USP24,missense_variant,p.Asp384Gly,ENST00000294383,;	1151	215	212	SUCCESS
MIER1	57708	.	GRCh37	1	67436525	67436525	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	98	0	ENST00000355356.3:c.648T>C	p.Pro216=	p.P216=	ENST00000355356	NM_001077701.2	216	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS53326.1	807	MUTECT|MUSE|VARSCANS	.	GACCCTGAGTA	NONE	.	.	PROSITE_profiles:PS51156,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24,Pfam_domain:PF01448	.	.	ENSP00000383820	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000401041	Transcript	.	.	ENSG00000198160	29657	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIER1_HUMAN	MIER1	HGNC	.	.	UPI0000204526	SNV	MIER1,synonymous_variant,p.%3D,ENST00000355356,;MIER1,synonymous_variant,p.%3D,ENST00000355977,;MIER1,synonymous_variant,p.%3D,ENST00000401042,;MIER1,synonymous_variant,p.%3D,ENST00000371018,;MIER1,synonymous_variant,p.%3D,ENST00000371014,;MIER1,synonymous_variant,p.%3D,ENST00000401041,;MIER1,synonymous_variant,p.%3D,ENST00000371016,;MIER1,synonymous_variant,p.%3D,ENST00000357692,;	877	98	103	SUCCESS
GBP2	2634	.	GRCh37	1	89578243	89578243	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	22	218	0	ENST00000370466.3:c.1274T>A	p.Phe425Tyr	p.F425Y	ENST00000370466	NM_004120.4	425	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS719.1	1274	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAAATGTT	NONE	.	.	hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF39,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397	.	.	ENSP00000359497	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000370466	Transcript	.	.	ENSG00000162645	4183	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.089)	.	tolerated(0.79)	.	GBP2_HUMAN	GBP2	HGNC	Q8TCE5_HUMAN	.	UPI000013E19F	SNV	GBP2,missense_variant,p.Phe425Tyr,ENST00000370466,;GBP2,non_coding_transcript_exon_variant,,ENST00000463660,;GBP2,non_coding_transcript_exon_variant,,ENST00000493802,;GBP2,missense_variant,p.Phe425Tyr,ENST00000464839,;	1543	218	178	SUCCESS
HFM1	164045	.	GRCh37	1	91784929	91784929	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	101	0	ENST00000370425.3:c.2601A>G	p.Leu867=	p.L867=	ENST00000370425	NM_001017975.3	867	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS30769.2	2601	RADIA|MUTECT|MUSE	.	CATCCTAGTTG	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Gene3D:2q0zX01,Pfam_domain:PF02889,SMART_domains:SM00973,Superfamily_domains:SSF158702	.	.	ENSP00000359454	.	24/39	.	.	.	.	.	.	.	.	.	24/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,synonymous_variant,p.%3D,ENST00000370424,;HFM1,synonymous_variant,p.%3D,ENST00000430465,;HFM1,synonymous_variant,p.%3D,ENST00000370425,;HFM1,synonymous_variant,p.%3D,ENST00000294696,;HFM1,non_coding_transcript_exon_variant,,ENST00000497520,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;	2700	101	77	SUCCESS
C1orf146	388649	.	GRCh37	1	92711222	92711222	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764337401	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	25	158	0	ENST00000370375.3:c.534C>A	p.Asn178Lys	p.N178K	ENST00000370375	NM_001012425.1	178	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS30772.1	534	RADIA|MUTECT|MUSE|VARSCANS	.	GTTAACCCAAA	NONE	byFrequency	.	hmmpanther:PTHR31408,hmmpanther:PTHR31408:SF2	.	.	ENSP00000359401	.	6/6	.	.	.	.	.	.	.	.	rs764337401	6/6	PASS	ENST00000370375	Transcript	.	.	ENSG00000203910	24032	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.173)	.	tolerated_low_confidence(0.09)	.	CA146_HUMAN	C1orf146	HGNC	.	.	UPI0000185FBA	SNV	C1orf146,missense_variant,p.Asn119Lys,ENST00000370373,;C1orf146,missense_variant,p.Asn178Lys,ENST00000370375,;GLMN,downstream_gene_variant,,ENST00000495852,;GLMN,downstream_gene_variant,,ENST00000534881,;GLMN,downstream_gene_variant,,ENST00000370360,;GLMN,downstream_gene_variant,,ENST00000495106,;GLMN,downstream_gene_variant,,ENST00000471465,;	682	158	132	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20582430	20582430	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147045442	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	69	0	ENST00000202677.7:c.2099G>A	p.Arg700Gln	p.R700Q	ENST00000202677	NM_020343.3	700	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS46584.1	2099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCGCCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	T:0	.	ENSP00000202677	T:0.001	16/40	.	.	.	.	.	.	.	.	rs147045442	16/40	PASS	ENST00000202677	Transcript	.	T:0.0002	ENSG00000188559	16207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	T:0	tolerated(0.16)	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,missense_variant,p.Arg700Gln,ENST00000202677,;RALGAPA2,missense_variant,p.Arg517Gln,ENST00000430436,;RALGAPA2,non_coding_transcript_exon_variant,,ENST00000495793,;	2107	69	60	SUCCESS
PDRG1	81572	.	GRCh37	20	30536608	30536608	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs760063891	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	13	149	0	ENST00000202017.4:c.238+3A>G		p.X80_splice	ENST00000202017	NM_030815.2	80		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13194.1	.	RADIA|MUSE|VARSCANS	.	GGCCTTACCTT	NONE	byFrequency	.	.	.	.	ENSP00000202017	.	.	.	.	.	.	.	.	.	.	rs760063891,COSM149159	.	PASS	ENST00000202017	Transcript	.	.	ENSG00000088356	16119	.	.	LOW	3/4	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	PDRG1_HUMAN	PDRG1	HGNC	.	.	UPI0000034E24	SNV	PDRG1,splice_region_variant,,ENST00000202017,;TTLL9,downstream_gene_variant,,ENST00000375938,;TTLL9,downstream_gene_variant,,ENST00000375922,;TTLL9,downstream_gene_variant,,ENST00000375921,;	.	149	137	SUCCESS
DIDO1	11083	.	GRCh37	20	61511798	61511798	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs147241583	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	13	156	0	ENST00000266070.4:c.5510T>G	p.Val1837Gly	p.V1837G	ENST00000266070	NM_033081.2	1837	gTg/gGg	0	G:0.0043	G:0.0023	.	G:0	.	C	V/G	protein_coding	YES	CCDS33506.1	5510	MUTECT|MUSE	.	GTGCCACTCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	G:0	G:0	ENSP00000266070	G:0	16/16	.	.	.	.	.	.	.	.	rs147241583	16/16	PASS	ENST00000266070	Transcript	.	G:0.0006	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	G:0	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Val1837Gly,ENST00000266070,;DIDO1,missense_variant,p.Val1837Gly,ENST00000395343,;	5836	156	129	SUCCESS
DIDO1	11083	.	GRCh37	20	61511821	61511821	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	12	146	0	ENST00000266070.4:c.5487T>C	p.Ser1829=	p.S1829=	ENST00000266070	NM_033081.2	1829	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33506.1	5487	RADIA|MUTECT|MUSE	.	AGGTAAGAGGG	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,synonymous_variant,p.%3D,ENST00000266070,;DIDO1,synonymous_variant,p.%3D,ENST00000395343,;	5813	146	115	SUCCESS
KRTAP13-3	337960	.	GRCh37	21	31797785	31797785	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	6	98	0	ENST00000390690.2:c.446C>T	p.Pro149Leu	p.P149L	ENST00000390690	NM_181622.1	149	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13591.1	446	RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGGATGG	NONE	.	.	hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF12,Pfam_domain:PF05287	.	.	ENSP00000375109	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390690	Transcript	.	.	ENSG00000240432	18925	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	KR133_HUMAN	KRTAP13-3	HGNC	.	.	UPI000003B46C	SNV	KRTAP13-3,missense_variant,p.Pro149Leu,ENST00000390690,;KRTAP13-4,upstream_gene_variant,,ENST00000334068,;	502	98	68	SUCCESS
SIM2	6493	.	GRCh37	21	38117042	38117042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	70	0	ENST00000290399.6:c.1181T>C	p.Phe394Ser	p.F394S	ENST00000290399	NM_005069.3	394	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS13646.1	1181	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTTCCAAA	NONE	.	.	PROSITE_profiles:PS51302,hmmpanther:PTHR23043:SF19,hmmpanther:PTHR23043,Pfam_domain:PF06621	.	.	ENSP00000290399	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.457)	.	tolerated(0.05)	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,missense_variant,p.Phe332Ser,ENST00000431229,;SIM2,missense_variant,p.Phe394Ser,ENST00000430056,;SIM2,missense_variant,p.Phe394Ser,ENST00000290399,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	1794	70	73	SUCCESS
CSTB	1476	.	GRCh37	21	45194153	45194153	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	280	22	298	0	ENST00000291568.5:c.227A>G	p.Glu76Gly	p.E76G	ENST00000291568	NM_000100.3	76	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS13701.1	227	MUTECT|MUSE	.	TGTTTTCATGA	NONE	.	.	hmmpanther:PTHR11414,hmmpanther:PTHR11414:SF19,Gene3D:3.10.450.10,Pfam_domain:PF00031,SMART_domains:SM00043,Superfamily_domains:SSF54403	.	.	ENSP00000291568	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000291568	Transcript	.	.	ENSG00000160213	2482	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.956)	.	tolerated(0.05)	.	CYTB_HUMAN	CSTB	HGNC	Q76LA1_HUMAN	.	UPI0000001F9C	SNV	CSTB,missense_variant,p.Glu76Gly,ENST00000291568,;CSTB,non_coding_transcript_exon_variant,,ENST00000480147,;	403	298	302	SUCCESS
RASD2	23551	.	GRCh37	22	35942929	35942929	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	13	131	0	ENST00000216127.4:c.73C>G	p.Leu25Val	p.L25V	ENST00000216127	NM_014310.3	25	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS13916.1	73	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCTGGGT	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF229,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000216127	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000216127	Transcript	.	.	ENSG00000100302	18229	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	RHES_HUMAN	RASD2	HGNC	.	.	UPI000004980A	SNV	RASD2,missense_variant,p.Leu25Val,ENST00000216127,;	715	131	113	SUCCESS
APOBEC3F	200316	.	GRCh37	22	39436935	39436935	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	84	0	ENST00000308521.5:c.-31A>G		p.*11*	ENST00000308521	NM_145298.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33648.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAAAGAT	NONE	.	.	.	.	.	ENSP00000309749	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000308521	Transcript	.	.	ENSG00000128394	17356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABC3F_HUMAN	APOBEC3F	HGNC	B4DGW8_HUMAN	.	UPI000016074C	SNV	APOBEC3G,5_prime_UTR_variant,,ENST00000452957,;APOBEC3F,5_prime_UTR_variant,,ENST00000381565,;APOBEC3F,5_prime_UTR_variant,,ENST00000308521,;APOBEC3F,intron_variant,,ENST00000491387,;APOBEC3F,upstream_gene_variant,,ENST00000476513,;	327	84	59	SUCCESS
CELSR1	9620	.	GRCh37	22	46787590	46787590	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756623065	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	13	0	ENST00000262738.3:c.6088G>A	p.Gly2030Ser	p.G2030S	ENST00000262738	NM_014246.1	2030	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS14076.1	6088	RADIA|SOMATICSNIPER	.	GCGGCCGATGA	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,hmmpanther:PTHR24026,PROSITE_profiles:PS50027	.	.	ENSP00000262738	.	15/35	.	.	.	.	.	.	.	.	rs756623065	15/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Gly2030Ser,ENST00000262738,;	6088	13	14	SUCCESS
MERTK	10461	.	GRCh37	2	112686826	112686826	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	274	34	303	0	ENST00000295408.4:c.191T>A	p.Met64Lys	p.M64K	ENST00000295408		64	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS2094.1	191	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGATGTTTT	NONE	.	.	.	.	.	ENSP00000295408	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000295408	Transcript	.	.	ENSG00000153208	7027	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	deleterious_low_confidence(0.02)	.	MERTK_HUMAN	MERTK	HGNC	Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN	.	UPI000013E252	SNV	MERTK,missense_variant,p.Met64Lys,ENST00000295408,;MERTK,missense_variant,p.Met64Lys,ENST00000421804,;MERTK,intron_variant,,ENST00000409780,;RN7SL297P,upstream_gene_variant,,ENST00000483161,;MERTK,missense_variant,p.Met64Lys,ENST00000439966,;	448	303	309	SUCCESS
SCN1A	6323	.	GRCh37	2	166852533	166852533	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	41	0	ENST00000303395.4:c.4571C>T	p.Pro1524Leu	p.P1524L	ENST00000303395		1524	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54413.1	4571	MUTECT|MUSE	.	GTCGAGGTATA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	.	ENSP00000303540	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Pro1524Leu,ENST00000303395,;SCN1A,missense_variant,p.Pro1513Leu,ENST00000375405,;SCN1A,missense_variant,p.Pro1524Leu,ENST00000423058,;SCN1A,missense_variant,p.Pro1496Leu,ENST00000409050,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000595647,;SCN1A,downstream_gene_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;	4571	41	45	SUCCESS
SCN1A	6323	.	GRCh37	2	166852534	166852534	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143088184	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	41	0	ENST00000303395.4:c.4570C>A	p.Pro1524Thr	p.P1524T	ENST00000303395		1524	Cct/Act	0	T:0.0002	.	.	.	.	T	P/T	protein_coding	YES	CCDS54413.1	4570	MUTECT|MUSE	.	TCGAGGTATAG	NONE	byCluster	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	T:0	ENSP00000303540	.	24/26	.	.	.	.	.	.	.	.	rs143088184	24/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Pro1524Thr,ENST00000303395,;SCN1A,missense_variant,p.Pro1513Thr,ENST00000375405,;SCN1A,missense_variant,p.Pro1524Thr,ENST00000423058,;SCN1A,missense_variant,p.Pro1496Thr,ENST00000409050,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000595647,;SCN1A,downstream_gene_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;	4570	41	45	SUCCESS
ABCB11	8647	.	GRCh37	2	169791714	169791714	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	15	155	0	ENST00000263817.6:c.3036C>T	p.Leu1012=	p.L1012=	ENST00000263817	NM_003742.2	1012	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46444.1	3036	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGAGCCC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF165,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000263817	.	23/28	.	.	.	.	.	.	.	.	COSM3569642,COSM3569641	23/28	PASS	ENST00000263817	Transcript	.	.	ENSG00000073734	42	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	ABCBB_HUMAN	ABCB11	HGNC	Q9UIL3_HUMAN,Q53S60_HUMAN,B4DYQ0_HUMAN	.	UPI0000163BFA	SNV	ABCB11,synonymous_variant,p.%3D,ENST00000263817,;ABCB11,3_prime_UTR_variant,,ENST00000439188,;	3161	155	143	SUCCESS
FASTKD1	79675	.	GRCh37	2	170428398	170428398	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150915965	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	25	121	0	ENST00000453153.2:c.142G>A	p.Asp48Asn	p.D48N	ENST00000453153	NM_024622.4	48	Gat/Aat	0	T:0.0005	.	.	.	.	T	D/N	protein_coding	YES	CCDS33318.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCTGTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21228:SF29,hmmpanther:PTHR21228	.	T:0	ENSP00000400513	.	2/15	.	.	.	.	.	.	.	.	rs150915965	2/15	PASS	ENST00000453153	Transcript	.	.	ENSG00000138399	26150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.44)	.	FAKD1_HUMAN	FASTKD1	HGNC	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN	.	UPI000050BC4D	SNV	FASTKD1,missense_variant,p.Asp48Asn,ENST00000438035,;FASTKD1,missense_variant,p.Asp48Asn,ENST00000453929,;FASTKD1,missense_variant,p.Asp48Asn,ENST00000453153,;FASTKD1,missense_variant,p.Asp48Asn,ENST00000445210,;FASTKD1,upstream_gene_variant,,ENST00000417376,;	489	121	116	SUCCESS
CYBRD1	79901	.	GRCh37	2	172411309	172411309	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs777956355	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	24	185	1	ENST00000321348.4:c.833A>G	p.Asp278Gly	p.D278G	ENST00000321348	NM_024843.3	278	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2244.1	833	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGATGAGG	NONE	.	.	hmmpanther:PTHR10106:SF1,hmmpanther:PTHR10106	.	.	ENSP00000319141	.	4/4	.	.	.	.	.	.	.	.	rs777956355	4/4	PASS	ENST00000321348	Transcript	.	.	ENSG00000071967	20797	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.521)	.	deleterious_low_confidence(0)	.	CYBR1_HUMAN	CYBRD1	HGNC	.	.	UPI0000140B22	SNV	CYBRD1,missense_variant,p.Asp220Gly,ENST00000409484,;CYBRD1,missense_variant,p.Asp278Gly,ENST00000321348,;CYBRD1,3_prime_UTR_variant,,ENST00000375252,;CYBRD1,downstream_gene_variant,,ENST00000445146,;CYBRD1,downstream_gene_variant,,ENST00000468308,;	1031	186	180	SUCCESS
ASNSD1	54529	.	GRCh37	2	190531503	190531503	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	42	0	ENST00000260952.4:c.645G>T	p.Leu215=	p.L215=	ENST00000260952	NM_019048.2	215	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2300.1	645	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGAGTCA	NONE	.	.	hmmpanther:PTHR11772:SF3,hmmpanther:PTHR11772	.	.	ENSP00000260952	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000260952	Transcript	.	.	ENSG00000138381	24910	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASND1_HUMAN	ASNSD1	HGNC	C9J6C1_HUMAN,C9IYZ1_HUMAN	.	UPI000013D120	SNV	ASNSD1,synonymous_variant,p.%3D,ENST00000260952,;ASNSD1,synonymous_variant,p.%3D,ENST00000420250,;ASNSD1,intron_variant,,ENST00000607062,;ASNSD1,intron_variant,,ENST00000606910,;ASNSD1,downstream_gene_variant,,ENST00000607690,;ASNSD1,downstream_gene_variant,,ENST00000607829,;ASNSD1,downstream_gene_variant,,ENST00000607535,;ASNSD1,downstream_gene_variant,,ENST00000425590,;ASNSD1,downstream_gene_variant,,ENST00000605941,;	1058	42	54	SUCCESS
ZDBF2	57683	.	GRCh37	2	207174580	207174580	+	synonymous_variant	Silent	SNP	A	A	G	rs748840809	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	4	120	1	ENST00000374423.3:c.5328A>G	p.Val1776=	p.V1776=	ENST00000374423	NM_020923.1	1776	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS46501.1	5328	MUTECT|MUSE	.	AAGGTATCTTC	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	rs748840809	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,synonymous_variant,p.%3D,ENST00000374423,;	5714	121	101	SUCCESS
ZDBF2	57683	.	GRCh37	2	207175044	207175044	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761829224	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	31	191	0	ENST00000374423.3:c.5792G>T	p.Gly1931Val	p.G1931V	ENST00000374423	NM_020923.1	1931	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46501.1	5792	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGGCGTG	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	rs761829224,COSM4139212,COSM4139211	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0)	.	tolerated(0.09)	0,1,1	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Gly1931Val,ENST00000374423,;	6178	191	225	SUCCESS
IGFBP5	3488	.	GRCh37	2	217542924	217542924	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	9	336	0	ENST00000233813.4:c.598C>A	p.Leu200Met	p.L200M	ENST00000233813	NM_000599.3	200	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS2405.1	598	MUTECT|MUSE	.	CTGCAGGGAAG	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF4,Gene3D:4.10.800.10,Pfam_domain:PF00086,Superfamily_domains:SSF57610,Prints_domain:PR01976	.	.	ENSP00000233813	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000233813	Transcript	.	.	ENSG00000115461	5474	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.649)	.	tolerated(0.08)	.	IBP5_HUMAN	IGFBP5	HGNC	.	.	UPI000004E58C	SNV	IGFBP5,missense_variant,p.Leu200Met,ENST00000233813,;IGFBP5,downstream_gene_variant,,ENST00000449583,;IGFBP5,downstream_gene_variant,,ENST00000486341,;	1348	336	294	SUCCESS
GPC1	2817	.	GRCh37	2	241390200	241390200	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	211	21	305	0	ENST00000264039.2:c.167-8247A>C		p.*56*	ENST00000264039	NM_002081.2	69		0	.	.	.	.	.	C	N/K	protein_coding	YES	.	207	MUTECT|MUSE|VARSCANS	.	CCTTTATTCAG	NONE	.	.	.	.	.	ENSP00000384439	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000404327	Transcript	.	.	ENSG00000218416	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.607)	.	.	.	.	AC110619.2	Clone_based_vega_gene	B5MC12_HUMAN	.	UPI0001661FA9	SNV	AC110619.2,missense_variant,p.Asn69Lys,ENST00000404327,;AC110619.2,3_prime_UTR_variant,,ENST00000404891,;GPC1,intron_variant,,ENST00000264039,;GPC1,upstream_gene_variant,,ENST00000426280,;GPC1,upstream_gene_variant,,ENST00000420138,;AC110619.2,non_coding_transcript_exon_variant,,ENST00000471662,;GPC1,intron_variant,,ENST00000469694,;AC110619.1,non_coding_transcript_exon_variant,,ENST00000538012,;	258	305	232	SUCCESS
RASGRP3	25780	.	GRCh37	2	33740196	33740196	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	14	198	0	ENST00000402538.3:c.-8A>G		p.*3*	ENST00000402538	NM_170672.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46256.1	.	MUTECT|MUSE|VARSCANS	.	CGGCTAAATAA	NONE	.	.	.	.	.	ENSP00000384192	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000403687	Transcript	.	.	ENSG00000152689	14545	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRP3_HUMAN	RASGRP3	HGNC	C9K0P4_HUMAN,C9JWP0_HUMAN,C9JSS2_HUMAN,C9J9C9_HUMAN,C9IYA5_HUMAN	.	UPI0000074694	SNV	RASGRP3,5_prime_UTR_variant,,ENST00000407811,;RASGRP3,5_prime_UTR_variant,,ENST00000444784,;RASGRP3,5_prime_UTR_variant,,ENST00000437184,;RASGRP3,5_prime_UTR_variant,,ENST00000425210,;RASGRP3,5_prime_UTR_variant,,ENST00000442390,;RASGRP3,5_prime_UTR_variant,,ENST00000402538,;RASGRP3,5_prime_UTR_variant,,ENST00000423159,;RASGRP3,5_prime_UTR_variant,,ENST00000403687,;RASGRP3,downstream_gene_variant,,ENST00000497723,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000482857,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000479528,;	733	198	174	SUCCESS
FANCL	55120	.	GRCh37	2	58453916	58453916	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1170759423	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	8	172	0	ENST00000233741.4:c.220A>G	p.Met74Val	p.M74V	ENST00000233741	NM_018062.3	74	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS46294.1	220	MUTECT|MUSE	.	CTGCATTCTCT	NONE	.	.	hmmpanther:PTHR13206:SF0,hmmpanther:PTHR13206,Pfam_domain:PF09765	.	.	ENSP00000385021	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000402135	Transcript	.	.	ENSG00000115392	20748	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	deleterious(0.01)	.	FANCL_HUMAN	FANCL	HGNC	.	.	UPI0000D4A2D4	SNV	FANCL,missense_variant,p.Met74Val,ENST00000233741,;FANCL,missense_variant,p.Met74Val,ENST00000403295,;FANCL,missense_variant,p.Met74Val,ENST00000427708,;FANCL,missense_variant,p.Met74Val,ENST00000402135,;FANCL,missense_variant,p.Met74Val,ENST00000540646,;FANCL,intron_variant,,ENST00000446381,;FANCL,intron_variant,,ENST00000449070,;FANCL,intron_variant,,ENST00000403676,;FANCL,intron_variant,,ENST00000417361,;FANCL,non_coding_transcript_exon_variant,,ENST00000481670,;	257	172	181	SUCCESS
ZNF638	27332	.	GRCh37	2	71629093	71629093	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	55	0	ENST00000264447.4:c.2705A>G	p.Glu902Gly	p.E902G	ENST00000264447	NM_001014972.2	902	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1917.1	2705	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGAAGAAA	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000386433	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.765)	.	deleterious(0.01)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Glu902Gly,ENST00000409544,;ZNF638,missense_variant,p.Glu902Gly,ENST00000264447,;ZNF638,missense_variant,p.Glu902Gly,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,upstream_gene_variant,,ENST00000494241,;ZNF638,downstream_gene_variant,,ENST00000491843,;	3335	55	49	SUCCESS
DNAH6	1768	.	GRCh37	2	84921530	84921530	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	11	138	0	ENST00000237449.6:c.7450G>A	p.Glu2484Lys	p.E2484K	ENST00000237449		2484	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46348.1	7450	MUTECT|MUSE|VARSCANS	.	TTCATGAAGAC	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF12780,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000374045	.	46/77	.	.	.	.	.	.	.	.	.	46/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Glu456Lys,ENST00000602588,;DNAH6,missense_variant,p.Glu2484Lys,ENST00000237449,;DNAH6,missense_variant,p.Glu2435Lys,ENST00000398278,;DNAH6,missense_variant,p.Glu2484Lys,ENST00000389394,;	7587	138	134	SUCCESS
PIK3R4	30849	.	GRCh37	3	130422686	130422686	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	300	11	307	0	ENST00000356763.3:c.2979A>G	p.Lys993=	p.K993=	ENST00000356763	NM_014602.2	993	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS3067.1	2979	MUTECT|MUSE	.	GCAGATTTATG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR17583,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000349205	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000356763	Transcript	.	.	ENSG00000196455	8982	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PI3R4_HUMAN	PIK3R4	HGNC	D6RJ98_HUMAN,D6RBB7_HUMAN,D6RAC3_HUMAN	.	UPI0000071EF3	SNV	PIK3R4,synonymous_variant,p.%3D,ENST00000356763,;PIK3R4,downstream_gene_variant,,ENST00000508273,;	3537	307	311	SUCCESS
NMNAT3	349565	.	GRCh37	3	139292479	139292479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	21	221	0	ENST00000296202.7:c.337G>A	p.Gly113Ser	p.G113S	ENST00000296202		113	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3111.1	226	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTTCCA	NONE	.	.	hmmpanther:PTHR12039:SF1,hmmpanther:PTHR12039,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00482,Pfam_domain:PF01467,Superfamily_domains:SSF52374	.	.	ENSP00000384319	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000406164	Transcript	.	.	ENSG00000163864	20989	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	tolerated(0.34)	.	NMNA3_HUMAN	NMNAT3	HGNC	Q49AL4_HUMAN	.	UPI000007384A	SNV	NMNAT3,missense_variant,p.Gly76Ser,ENST00000406164,;NMNAT3,missense_variant,p.Gly113Ser,ENST00000509291,;NMNAT3,missense_variant,p.Gly3Ser,ENST00000406824,;NMNAT3,missense_variant,p.Gly76Ser,ENST00000339837,;NMNAT3,missense_variant,p.Gly113Ser,ENST00000296202,;NMNAT3,intron_variant,,ENST00000511444,;NMNAT3,intron_variant,,ENST00000413939,;NMNAT3,intron_variant,,ENST00000512391,;RP11-319G6.1,intron_variant,,ENST00000515247,;RP11-319G6.1,intron_variant,,ENST00000381790,;NMNAT3,non_coding_transcript_exon_variant,,ENST00000507242,;NMNAT3,non_coding_transcript_exon_variant,,ENST00000509447,;NMNAT3,3_prime_UTR_variant,,ENST00000506254,;	790	221	183	SUCCESS
EPHB3	2049	.	GRCh37	3	184294923	184294923	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	58	0	ENST00000330394.2:c.1306C>A	p.Pro436Thr	p.P436T	ENST00000330394	NM_004443.3	436	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3268.1	1306	RADIA|VARSCANS	.	AGAGCCCTCTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000332118	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.262)	.	tolerated(0.1)	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Pro436Thr,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,upstream_gene_variant,,ENST00000482987,;EPHB3,upstream_gene_variant,,ENST00000473079,;	1758	58	51	SUCCESS
CLDN1	9076	.	GRCh37	3	190030766	190030766	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	14	169	0	ENST00000295522.3:c.283A>G	p.Ile95Val	p.I95V	ENST00000295522	NM_021101.4	95	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3295.1	283	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATTGCTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF92,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000295522	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295522	Transcript	.	.	ENSG00000163347	2032	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.065)	.	tolerated(0.5)	.	CLD1_HUMAN	CLDN1	HGNC	B4DLC3_HUMAN,A5JSJ9_HUMAN	.	UPI0000046D1E	SNV	CLDN1,missense_variant,p.Ile95Val,ENST00000295522,;CLDN1,non_coding_transcript_exon_variant,,ENST00000490800,;	552	169	165	SUCCESS
LRRC15	131578	.	GRCh37	3	194081707	194081707	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	32	0	ENST00000347624.3:c.66C>T	p.Tyr22=	p.Y22=	ENST00000347624	NM_130830.4	22	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS46984.1	84	MUTECT|MUSE	.	CCATGGTAGGC	NONE	.	.	hmmpanther:PTHR24369:SF15,hmmpanther:PTHR24369	.	.	ENSP00000389128	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439944	Transcript	.	.	ENSG00000172061	20818	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRC15_HUMAN	LRRC15	HGNC	.	.	UPI000153D75D	SNV	LRRC15,synonymous_variant,p.%3D,ENST00000347624,;LRRC15,synonymous_variant,p.%3D,ENST00000439944,;LRRC15,synonymous_variant,p.%3D,ENST00000428839,;	84	32	34	SUCCESS
NEK10	152110	.	GRCh37	3	27350422	27350422	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	298	12	292	1	ENST00000429845.2:c.711A>C	p.Ala237=	p.A237=	ENST00000429845		237	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS46781.1	711	MUTECT|MUSE	.	CTTTCTGCTAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR26266:SF77,hmmpanther:PTHR26266,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000343847	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000341435	Transcript	.	.	ENSG00000163491	18592	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI00001C089B	SNV	NEK10,synonymous_variant,p.%3D,ENST00000429845,;NEK10,synonymous_variant,p.%3D,ENST00000341435,;NEK10,downstream_gene_variant,,ENST00000491627,;	985	293	310	SUCCESS
CAMP	820	.	GRCh37	3	48266103	48266103	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375338469	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	21	193	0	ENST00000576243.1:c.320G>A	p.Arg107Gln	p.R107Q	ENST00000576243		107	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS2762.2	329	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGGTGTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10206,hmmpanther:PTHR10206:SF0,Gene3D:3.10.450.10,Superfamily_domains:SSF54403	.	A:0	ENSP00000296435	.	3/4	.	.	.	.	.	.	.	.	rs375338469	3/4	PASS	ENST00000296435	Transcript	.	.	ENSG00000164047	1472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(1)	.	.	CAMP	HGNC	J3KNB4_HUMAN	.	UPI00005A8CD1	SNV	CAMP,missense_variant,p.Arg107Gln,ENST00000576243,;CAMP,missense_variant,p.Arg110Gln,ENST00000296435,;	485	193	155	SUCCESS
BSN	8927	.	GRCh37	3	49680416	49680416	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	15	227	1	ENST00000296452.4:c.1349A>G	p.Lys450Arg	p.K450R	ENST00000296452	NM_003458.3	450	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2800.1	1349	MUTECT|MUSE	.	ATCGAAGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Lys450Arg,ENST00000296452,;BSN-AS1,upstream_gene_variant,,ENST00000442384,;BSN,upstream_gene_variant,,ENST00000467456,;	1463	228	214	SUCCESS
APEH	327	.	GRCh37	3	49720037	49720037	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1421898924	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	30	205	0	ENST00000296456.5:c.1751T>C	p.Met584Thr	p.M584T	ENST00000296456	NM_001640.3	584	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS2801.1	1751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATGGGTG	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF108,PROSITE_patterns:PS00708,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000296456	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000296456	Transcript	.	.	ENSG00000164062	586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.21)	.	ACPH_HUMAN	APEH	HGNC	C9JLK2_HUMAN	.	UPI00000735A1	SNV	APEH,missense_variant,p.Met584Thr,ENST00000296456,;APEH,missense_variant,p.Met584Thr,ENST00000438011,;MST1,downstream_gene_variant,,ENST00000448220,;APEH,downstream_gene_variant,,ENST00000442186,;MST1,downstream_gene_variant,,ENST00000449682,;MST1,downstream_gene_variant,,ENST00000383728,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000494828,;APEH,3_prime_UTR_variant,,ENST00000469362,;APEH,non_coding_transcript_exon_variant,,ENST00000480772,;MST1,downstream_gene_variant,,ENST00000494809,;MST1,downstream_gene_variant,,ENST00000488350,;APEH,downstream_gene_variant,,ENST00000446089,;MST1,downstream_gene_variant,,ENST00000484144,;MST1,downstream_gene_variant,,ENST00000492370,;APEH,downstream_gene_variant,,ENST00000447436,;AC099668.5,downstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,downstream_gene_variant,,ENST00000498021,;MST1,downstream_gene_variant,,ENST00000479115,;MST1,downstream_gene_variant,,ENST00000484269,;MST1,downstream_gene_variant,,ENST00000489007,;MST1,downstream_gene_variant,,ENST00000497359,;APEH,downstream_gene_variant,,ENST00000447541,;MST1,downstream_gene_variant,,ENST00000481930,;MST1,downstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,downstream_gene_variant,,ENST00000493836,;MST1,downstream_gene_variant,,ENST00000480268,;MST1,downstream_gene_variant,,ENST00000492329,;APEH,downstream_gene_variant,,ENST00000482301,;	2151	205	176	SUCCESS
CISH	1154	.	GRCh37	3	50645332	50645332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	117	0	ENST00000348721.3:c.483G>T	p.Gln161His	p.Q161H	ENST00000348721	NM_145071.2	161	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS46834.1	534	MUTECT|MUSE	.	TAGTGCTGCAC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10385:SF7,hmmpanther:PTHR10385,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000409346	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.907)	.	deleterious(0.02)	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	SNV	CISH,missense_variant,p.Gln161His,ENST00000348721,;CISH,missense_variant,p.Gln178His,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,upstream_gene_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	762	117	94	SUCCESS
BAP1	8314	.	GRCh37	3	52441262	52441262	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	18	143	0	ENST00000460680.1:c.508T>G	p.Phe170Val	p.F170V	ENST00000460680	NM_004656.3	170	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS2853.1	508	RADIA|MUTECT|MUSE|VARSCANS	.	GACAAAGTGGA	BUFFER|p.S172R|c.516C>G|4,BUFFER|p.H169Q|c.507C>G|3	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001	.	.	ENSP00000417132	.	7/17	.	.	.	.	.	.	.	.	COSM243166	7/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,missense_variant,p.Phe170Val,ENST00000296288,;BAP1,missense_variant,p.Phe170Val,ENST00000460680,;BAP1,missense_variant,p.Phe91Val,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,3_prime_UTR_variant,,ENST00000490917,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;BAP1,intron_variant,,ENST00000483984,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;	980	143	127	SUCCESS
ROBO1	6091	.	GRCh37	3	78683082	78683082	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	28	198	0	ENST00000464233.1:c.3481+3A>C		p.X1161_splice	ENST00000464233	NM_002941.3	1161		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54611.1	.	RADIA|MUSE|VARSCANS	.	TTACTTACCAG	NONE	.	.	.	.	.	ENSP00000420321	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	LOW	24/30	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,splice_region_variant,,ENST00000464233,;ROBO1,splice_region_variant,,ENST00000495273,;ROBO1,splice_region_variant,,ENST00000436010,;ROBO1,splice_region_variant,,ENST00000472273,;ROBO1,splice_region_variant,,ENST00000467549,;ROBO1,splice_region_variant,,ENST00000498428,;	.	198	200	SUCCESS
SYNPO2	171024	.	GRCh37	4	119947795	119947795	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	82	0	ENST00000429713.2:c.271A>G	p.Ile91Val	p.I91V	ENST00000429713	NM_001128933.1	91	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34054.1	271	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAATAAGT	NONE	.	.	hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.38)	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,missense_variant,p.Ile91Val,ENST00000434046,;SYNPO2,missense_variant,p.Ile91Val,ENST00000307142,;SYNPO2,missense_variant,p.Ile91Val,ENST00000429713,;SYNPO2,missense_variant,p.Ile43Val,ENST00000504178,;SYNPO2,intron_variant,,ENST00000448416,;	467	82	76	SUCCESS
NUDT6	11162	.	GRCh37	4	123814211	123814211	+	synonymous_variant	Silent	SNP	T	T	C	rs751612205	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	120	0	ENST00000304430.5:c.723A>G	p.Glu241=	p.E241=	ENST00000304430	NM_007083.4	241	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS43268.1	723	MUTECT|MUSE	.	CATTCTTCCTG	NONE	byFrequency	.	PROSITE_profiles:PS51462,hmmpanther:PTHR13994,hmmpanther:PTHR13994:SF8,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811,Prints_domain:PR01356	.	.	ENSP00000306070	.	5/5	.	.	.	.	.	.	.	.	rs751612205	5/5	PASS	ENST00000304430	Transcript	.	.	ENSG00000170917	8053	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUDT6_HUMAN	NUDT6	HGNC	.	.	UPI00001308E2	SNV	NUDT6,synonymous_variant,p.%3D,ENST00000304430,;NUDT6,synonymous_variant,p.%3D,ENST00000502270,;NUDT6,synonymous_variant,p.%3D,ENST00000339154,;NUDT6,3_prime_UTR_variant,,ENST00000510735,;FGF2,3_prime_UTR_variant,,ENST00000608478,;FGF2,3_prime_UTR_variant,,ENST00000264498,;NUDT6,upstream_gene_variant,,ENST00000608639,;NUDT6,3_prime_UTR_variant,,ENST00000503370,;NUDT6,3_prime_UTR_variant,,ENST00000512116,;NUDT6,downstream_gene_variant,,ENST00000513517,;	757	120	110	SUCCESS
CTBP1-AS2	0	.	GRCh37	4	1244695	1244695	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	30	0	ENST00000581398.1:n.649A>G		p.*217*	ENST00000581398				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3348.1	.	RADIA|MUTECT|MUSE	.	CTGCCATGAGC	NONE	.	1770	.	.	.	ENSP00000290921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290921	Transcript	.	.	ENSG00000159692	2494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CTBP1_HUMAN	CTBP1	HGNC	.	.	UPI0000128637	SNV	CTBP1,upstream_gene_variant,,ENST00000515399,;CTBP1,upstream_gene_variant,,ENST00000514210,;CTBP1,upstream_gene_variant,,ENST00000290921,;CTBP1,upstream_gene_variant,,ENST00000513420,;CTBP1,upstream_gene_variant,,ENST00000382952,;CTBP1,upstream_gene_variant,,ENST00000506180,;CTBP1-AS2,non_coding_transcript_exon_variant,,ENST00000514984,;CTBP1-AS2,non_coding_transcript_exon_variant,,ENST00000357591,;CTBP1-AS2,non_coding_transcript_exon_variant,,ENST00000581398,;CTBP1-AS2,non_coding_transcript_exon_variant,,ENST00000578730,;CTBP1-AS2,upstream_gene_variant,,ENST00000505364,;CTBP1-AS2,downstream_gene_variant,,ENST00000507044,;CTBP1,upstream_gene_variant,,ENST00000514495,;	.	30	22	SUCCESS
SPATA4	132851	.	GRCh37	4	177113883	177113883	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	85	0	ENST00000280191.2:c.583T>G	p.Ser195Ala	p.S195A	ENST00000280191	NM_144644.2	195	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS3826.1	583	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGATAACC	NONE	.	.	hmmpanther:PTHR12509,Pfam_domain:PF06294	.	.	ENSP00000280191	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000280191	Transcript	.	.	ENSG00000150628	17333	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.765)	.	deleterious(0.01)	.	SPAT4_HUMAN	SPATA4	HGNC	G5E9Y6_HUMAN	.	UPI000006E54F	SNV	SPATA4,missense_variant,p.Ser195Ala,ENST00000280191,;SPATA4,missense_variant,p.Ser22Ala,ENST00000515234,;SPATA4,downstream_gene_variant,,ENST00000508699,;	692	85	79	SUCCESS
FAM149A	25854	.	GRCh37	4	187073131	187073131	+	synonymous_variant	Silent	SNP	A	A	G	rs756587438	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	10	227	0	ENST00000356371.5:c.891A>G	p.Lys297=	p.K297=	ENST00000356371		297	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS34117.1	18	MUTECT|MUSE	.	GGGAAAGTGAA	NONE	.	.	hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF2,Pfam_domain:PF12516	.	.	ENSP00000227065	.	4/14	.	.	.	.	.	.	.	.	rs756587438	4/14	PASS	ENST00000227065	Transcript	.	.	ENSG00000109794	24527	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F149A_HUMAN	FAM149A	HGNC	D6RGX1_HUMAN,D6RC92_HUMAN,D6RAL4_HUMAN	.	UPI00001C1E1F	SNV	FAM149A,synonymous_variant,p.%3D,ENST00000514153,;FAM149A,synonymous_variant,p.%3D,ENST00000389354,;FAM149A,synonymous_variant,p.%3D,ENST00000502970,;FAM149A,synonymous_variant,p.%3D,ENST00000503432,;FAM149A,synonymous_variant,p.%3D,ENST00000504330,;FAM149A,synonymous_variant,p.%3D,ENST00000227065,;FAM149A,synonymous_variant,p.%3D,ENST00000356371,;FAM149A,synonymous_variant,p.%3D,ENST00000509574,;FAM149A,synonymous_variant,p.%3D,ENST00000510790,;FAM149A,non_coding_transcript_exon_variant,,ENST00000514829,;FAM149A,intron_variant,,ENST00000513030,;FAM149A,downstream_gene_variant,,ENST00000508379,;FAM149A,downstream_gene_variant,,ENST00000513212,;FAM149A,non_coding_transcript_exon_variant,,ENST00000515078,;	597	227	223	SUCCESS
HTT	3064	.	GRCh37	4	3240242	3240242	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	13	187	0	ENST00000355072.5:c.8960T>A	p.Phe2987Tyr	p.F2987Y	ENST00000355072	NM_002111.6	2987	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS43206.1	8960	MUTECT|MUSE	.	CGACTTCTTCC	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371,Prints_domain:PR00375	.	.	ENSP00000347184	.	65/67	.	.	.	.	.	.	.	.	.	65/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.861)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Phe2987Tyr,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;	9105	187	169	SUCCESS
UBE2K	3093	.	GRCh37	4	39780009	39780009	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	61	0	ENST00000261427.5:c.558A>G	p.Lys186=	p.K186=	ENST00000261427	NM_005339.4	186	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS33976.1	558	MUTECT|MUSE	.	TCAAAATCATG	NONE	.	.	PROSITE_profiles:PS50030,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF83,Gene3D:1.10.8.10,Pfam_domain:PF00627,SMART_domains:SM00165,Superfamily_domains:SSF46934	.	.	ENSP00000261427	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000261427	Transcript	.	.	ENSG00000078140	4914	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBE2K_HUMAN	UBE2K	HGNC	B3KSH4_HUMAN	.	UPI0000003FF1	SNV	UBE2K,synonymous_variant,p.%3D,ENST00000261427,;UBE2K,synonymous_variant,p.%3D,ENST00000445950,;UBE2K,synonymous_variant,p.%3D,ENST00000503368,;UBE2K,synonymous_variant,p.%3D,ENST00000295963,;UBE2K,downstream_gene_variant,,ENST00000510934,;UBE2K,non_coding_transcript_exon_variant,,ENST00000513231,;UBE2K,non_coding_transcript_exon_variant,,ENST00000438068,;UBE2K,3_prime_UTR_variant,,ENST00000510719,;	842	61	72	SUCCESS
TXK	7294	.	GRCh37	4	48116411	48116411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	18	96	1	ENST00000264316.4:c.25A>G	p.Ile9Val	p.I9V	ENST00000264316	NM_003328.2	9	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3480.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGGTGT	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159	.	.	ENSP00000264316	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000264316	Transcript	.	.	ENSG00000074966	12434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.11)	.	TXK_HUMAN	TXK	HGNC	Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN	.	UPI000013D4F9	SNV	TXK,missense_variant,p.Ile9Val,ENST00000264316,;TXK,missense_variant,p.Ile9Val,ENST00000506073,;RNU6-868P,upstream_gene_variant,,ENST00000517241,;TXK,non_coding_transcript_exon_variant,,ENST00000510457,;	111	97	95	SUCCESS
BMP2K	55589	.	GRCh37	4	79808426	79808426	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	86	0	ENST00000335016.5:c.2050A>G	p.Ile684Val	p.I684V	ENST00000335016	NM_198892.1	684	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS47083.1	2050	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCATTTCT	NONE	.	.	hmmpanther:PTHR22967:SF10,hmmpanther:PTHR22967	.	.	ENSP00000334836	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000335016	Transcript	.	.	ENSG00000138756	18041	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.56)	.	BMP2K_HUMAN	BMP2K	HGNC	.	.	UPI00001BDC7C	SNV	BMP2K,missense_variant,p.Ile684Val,ENST00000335016,;BMP2K,missense_variant,p.Ile377Val,ENST00000502613,;PAQR3,3_prime_UTR_variant,,ENST00000295462,;PAQR3,3_prime_UTR_variant,,ENST00000512760,;PAQR3,3_prime_UTR_variant,,ENST00000342820,;	2216	86	90	SUCCESS
CHSY3	337876	.	GRCh37	5	129520025	129520025	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	28	127	1	ENST00000305031.4:c.1190A>G	p.Lys397Arg	p.K397R	ENST00000305031	NM_175856.4	397	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS34223.1	1190	RADIA|MUTECT|MUSE|VARSCANS	.	CAACAAAAGGC	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Pfam_domain:PF05679	.	.	ENSP00000302629	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Lys397Arg,ENST00000305031,;CHSY3,non_coding_transcript_exon_variant,,ENST00000507545,;	1548	128	179	SUCCESS
FBXL21	0	.	GRCh37	5	135277110	135277110	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	6	125	0	ENST00000478939.1:n.1222C>T		p.*408*	ENST00000478939				0	.	.	.	.	.	T	.	retained_intron	YES	.	.	MUTECT|MUSE	.	TCAGCCTCTTG	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000478939	Transcript	.	.	ENSG00000164616	13600	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FBXL21	HGNC	.	.	.	SNV	LECT2,intron_variant,,ENST00000522943,;LECT2,intron_variant,,ENST00000471827,;FBXL21,intron_variant,,ENST00000498734,;FBXL21,intron_variant,,ENST00000467490,;FBXL21,downstream_gene_variant,,ENST00000475169,;FBXL21,downstream_gene_variant,,ENST00000495672,;FBXL21,downstream_gene_variant,,ENST00000472159,;FBXL21,non_coding_transcript_exon_variant,,ENST00000478939,;FBXL21,missense_variant,p.Pro352Leu,ENST00000297158,;	1222	125	140	SUCCESS
HSPA9	3313	.	GRCh37	5	137893621	137893621	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	28	192	0	ENST00000297185.3:c.1570A>G	p.Ile524Val	p.I524V	ENST00000297185	NM_004134.6	524	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS4208.1	1570	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATGTCAA	NONE	.	.	HAMAP:MF_00332,hmmpanther:PTHR19375:SF173,hmmpanther:PTHR19375,TIGRFAM_domain:TIGR02350,Pfam_domain:PF00012,Gene3D:2.60.34.10,Superfamily_domains:SSF100920,Prints_domain:PR00301	.	.	ENSP00000297185	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000297185	Transcript	.	.	ENSG00000113013	5244	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0.04)	.	GRP75_HUMAN	HSPA9	HGNC	D6RJI2_HUMAN,D6RA73_HUMAN	.	UPI000012BA4E	SNV	HSPA9,missense_variant,p.Ile524Val,ENST00000297185,;SNORD63,downstream_gene_variant,,ENST00000411005,;SNORD63,downstream_gene_variant,,ENST00000384262,;HSPA9,intron_variant,,ENST00000501917,;HSPA9,missense_variant,p.Ile46Val,ENST00000512328,;HSPA9,intron_variant,,ENST00000507097,;HSPA9,upstream_gene_variant,,ENST00000524109,;HSPA9,downstream_gene_variant,,ENST00000508003,;HSPA9,downstream_gene_variant,,ENST00000523929,;	1696	192	185	SUCCESS
PCDHA4	56144	.	GRCh37	5	140187738	140187738	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	63	0	ENST00000530339.1:c.966C>A	p.Gly322=	p.G322=	ENST00000530339	NM_018907.2	322	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54916.1	966	MUTECT|MUSE	.	GAGGGCATTGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000435300	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000530339	Transcript	.	.	ENSG00000204967	8670	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDA4_HUMAN	PCDHA4	HGNC	.	.	UPI00001273CC	SNV	PCDHA4,synonymous_variant,p.%3D,ENST00000530339,;PCDHA4,synonymous_variant,p.%3D,ENST00000356878,;PCDHA4,synonymous_variant,p.%3D,ENST00000512229,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA3,downstream_gene_variant,,ENST00000532566,;PCDHA2,downstream_gene_variant,,ENST00000520672,;	966	63	64	SUCCESS
PCDHA5	56143	.	GRCh37	5	140203713	140203713	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1554129741	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	140	0	ENST00000529859.1:c.2352+1G>A		p.X784_splice	ENST00000529859	NM_018908.2	784		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54917.1	.	MUTECT|MUSE|VARSCANS	.	ACAACGTGAGT	NONE	.	.	.	.	.	ENSP00000436557	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	HIGH	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,splice_donor_variant,,ENST00000529619,;PCDHA5,splice_donor_variant,,ENST00000529859,;PCDHA5,missense_variant,p.Val785Met,ENST00000378126,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	.	140	107	SUCCESS
KIAA0141	0	.	GRCh37	5	141314143	141314143	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	10	140	0	ENST00000432126.2:c.1141A>T	p.Asn381Tyr	p.N381Y	ENST00000432126	NM_014773.3	381	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS4268.1	1141	MUTECT|MUSE|VARSCANS	.	CAGCCAACAAT	NONE	.	.	hmmpanther:PTHR11102:SF43,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901	.	.	ENSP00000396225	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000432126	Transcript	.	.	ENSG00000081791	28969	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.879)	.	deleterious(0.02)	.	DELE_HUMAN	KIAA0141	HGNC	.	.	UPI0000139350	SNV	KIAA0141,missense_variant,p.Asn83Tyr,ENST00000507481,;KIAA0141,missense_variant,p.Asn381Tyr,ENST00000194118,;KIAA0141,missense_variant,p.Asn381Tyr,ENST00000432126,;KIAA0141,downstream_gene_variant,,ENST00000508751,;KIAA0141,downstream_gene_variant,,ENST00000506775,;KIAA0141,non_coding_transcript_exon_variant,,ENST00000502729,;KIAA0141,upstream_gene_variant,,ENST00000509110,;	1275	140	125	SUCCESS
RBM27	54439	.	GRCh37	5	145616906	145616906	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	8	277	0	ENST00000265271.5:c.1190C>T	p.Pro397Leu	p.P397L	ENST00000265271	NM_018989.1	397	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43378.1	1190	MUTECT|MUSE	.	CCAGCCTGGGA	NONE	.	.	hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398	.	.	ENSP00000265271	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated_low_confidence(0.1)	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,missense_variant,p.Pro397Leu,ENST00000265271,;RBM27,missense_variant,p.Pro397Leu,ENST00000506502,;	1356	277	225	SUCCESS
GEMIN5	25929	.	GRCh37	5	154311099	154311099	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	23	106	0	ENST00000285873.7:c.700G>A	p.Ala234Thr	p.A234T	ENST00000285873	NM_001252156.1	234	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4330.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCTTGTG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320	.	.	ENSP00000285873	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,missense_variant,p.Ala234Thr,ENST00000285873,;GEMIN5,non_coding_transcript_exon_variant,,ENST00000523355,;	776	106	125	SUCCESS
MARCH11	0	.	GRCh37	5	16067841	16067841	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	62	0	ENST00000332432.8:c.948T>G	p.Asn316Lys	p.N316K	ENST00000332432	NM_001102562.1	316	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS47192.1	948	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAATTCAC	NONE	.	.	hmmpanther:PTHR23012:SF67,hmmpanther:PTHR23012	.	.	ENSP00000333181	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332432	Transcript	.	.	ENSG00000183654	33609	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	MARHB_HUMAN	MARCH11	HGNC	.	.	UPI00015B3D4A	SNV	MARCH11,missense_variant,p.Asn316Lys,ENST00000332432,;MARCH11,3_prime_UTR_variant,,ENST00000507111,;	1148	62	67	SUCCESS
ZNF622	90441	.	GRCh37	5	16465870	16465870	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	37	0	ENST00000308683.2:c.-96T>A		p.*32*	ENST00000308683	NM_033414.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3886.1	.	MUTECT|MUSE	.	CAGCCAGGAAG	NONE	.	.	.	.	.	ENSP00000310042	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000308683	Transcript	.	.	ENSG00000173545	30958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN622_HUMAN	ZNF622	HGNC	.	.	UPI0000072102	SNV	ZNF622,5_prime_UTR_variant,,ENST00000308683,;	32	37	44	SUCCESS
ERAP2	64167	.	GRCh37	5	96215831	96215831	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	22	189	0	ENST00000437043.3:c.442A>G	p.Ile148Val	p.I148V	ENST00000437043	NM_001130140.1	148	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4086.1	442	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAATTGCA	NONE	.	.	hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:0038696	.	.	ENSP00000400376	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000437043	Transcript	.	.	ENSG00000164308	29499	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.309)	.	tolerated(0.14)	.	ERAP2_HUMAN	ERAP2	HGNC	D6RGW0_HUMAN	.	UPI0000036336	SNV	ERAP2,missense_variant,p.Ile148Val,ENST00000510373,;ERAP2,missense_variant,p.Ile148Val,ENST00000379904,;ERAP2,missense_variant,p.Ile148Val,ENST00000510309,;ERAP2,missense_variant,p.Ile148Val,ENST00000437043,;ERAP2,upstream_gene_variant,,ENST00000507346,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,missense_variant,p.Ile148Val,ENST00000513084,;	1153	189	188	SUCCESS
NKAIN2	154215	.	GRCh37	6	124979397	124979397	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	10	227	1	ENST00000368417.1:c.339A>T	p.Pro113=	p.P113=	ENST00000368417	NM_001040214.1	113	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34526.1	339	MUTECT|MUSE	.	GGACCAGGATG	NONE	.	.	hmmpanther:PTHR13084,Pfam_domain:PF05640	.	.	ENSP00000357402	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000368417	Transcript	.	.	ENSG00000188580	16443	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NKAI2_HUMAN	NKAIN2	HGNC	B3KNZ0_HUMAN,B0AZU5_HUMAN	.	UPI0000458919	SNV	NKAIN2,synonymous_variant,p.%3D,ENST00000368417,;NKAIN2,synonymous_variant,p.%3D,ENST00000368416,;NKAIN2,synonymous_variant,p.%3D,ENST00000545433,;NKAIN2,intron_variant,,ENST00000546092,;	399	228	207	SUCCESS
KIAA1244	0	.	GRCh37	6	138629875	138629875	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	7	144	0	ENST00000251691.4:c.3974-1G>C		p.X1325_splice	ENST00000251691	NM_020340.4	1325		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5189.2	.	MUTECT|MUSE	.	CCTTAGGAAAA	NONE	.	.	.	.	.	ENSP00000251691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	HIGH	23/33	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,splice_acceptor_variant,,ENST00000251691,;	.	144	134	SUCCESS
SYNE1	23345	.	GRCh37	6	152638095	152638095	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	51	0	ENST00000367255.5:c.16599T>C	p.Asn5533=	p.N5533=	ENST00000367255	NM_182961.3	5533	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS5236.2	16599	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCATTGTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	87/146	.	.	.	.	.	.	.	.	.	87/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000356820,;SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;	17201	51	54	SUCCESS
TAGAP	117289	.	GRCh37	6	159457832	159457832	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	15	135	0	ENST00000367066.3:c.1223G>A	p.Arg408Gln	p.R408Q	ENST00000367066	NM_054114.4	408	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS5261.1	1223	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCGGGGC	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF26	.	.	ENSP00000356033	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367066	Transcript	.	.	ENSG00000164691	15669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	TAGAP_HUMAN	TAGAP	HGNC	.	.	UPI0000071CD5	SNV	TAGAP,missense_variant,p.Arg230Gln,ENST00000326965,;TAGAP,missense_variant,p.Arg408Gln,ENST00000367066,;TAGAP,downstream_gene_variant,,ENST00000338313,;RP1-111C20.4,intron_variant,,ENST00000606470,;RP1-111C20.4,intron_variant,,ENST00000606466,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000607391,;	1555	135	134	SUCCESS
CCR6	1235	.	GRCh37	6	167550283	167550283	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	33	196	0	ENST00000341935.5:c.565T>C	p.Tyr189His	p.Y189H	ENST00000341935	NM_031409.3	189	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS5298.1	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATACAAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF24,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000343952	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341935	Transcript	.	.	ENSG00000112486	1607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	deleterious(0)	.	CCR6_HUMAN	CCR6	HGNC	.	.	UPI00000008CE	SNV	CCR6,missense_variant,p.Tyr189His,ENST00000341935,;CCR6,missense_variant,p.Tyr189His,ENST00000400926,;CCR6,missense_variant,p.Tyr189His,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	1117	196	193	SUCCESS
RIPK1	8737	.	GRCh37	6	3106115	3106115	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs377213073	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	10	190	0	ENST00000259808.4:c.1406A>G	p.Tyr469Cys	p.Y469C	ENST00000259808		469	tAt/tGt	0	G:0.0002	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4482.1	1406	MUTECT|MUSE	.	ATTATATAGCT	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000259808	.	9/11	.	.	.	.	.	.	.	.	rs377213073	9/11	PASS	ENST00000259808	Transcript	.	.	ENSG00000137275	10019	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.15)	.	RIPK1_HUMAN	RIPK1	HGNC	.	.	UPI000000DC95	SNV	RIPK1,missense_variant,p.Tyr469Cys,ENST00000259808,;RIPK1,missense_variant,p.Tyr469Cys,ENST00000380409,;RIPK1,missense_variant,p.Tyr423Cys,ENST00000541791,;RIPK1,non_coding_transcript_exon_variant,,ENST00000479389,;	1704	190	210	SUCCESS
C6orf15	29113	.	GRCh37	6	31079842	31079842	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	26	157	1	ENST00000259870.3:c.294G>A	p.Trp98Ter	p.W98*	ENST00000259870	NM_014070.2	98	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS4693.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCACCT	NONE	.	.	hmmpanther:PTHR15817,hmmpanther:PTHR15817:SF2	.	.	ENSP00000259870	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259870	Transcript	.	.	ENSG00000204542	13927	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF015_HUMAN	C6orf15	HGNC	M1T2K5_HUMAN	.	UPI000000D748	SNV	C6orf15,stop_gained,p.Trp98Ter,ENST00000259870,;CDSN,downstream_gene_variant,,ENST00000376288,;PSORS1C1,upstream_gene_variant,,ENST00000259881,;PSORS1C1,upstream_gene_variant,,ENST00000467107,;PSORS1C1,upstream_gene_variant,,ENST00000479581,;PSORS1C1,upstream_gene_variant,,ENST00000493289,;PSORS1C1,upstream_gene_variant,,ENST00000548049,;PSORS1C1,upstream_gene_variant,,ENST00000552747,;PSORS1C1,upstream_gene_variant,,ENST00000550838,;	298	158	149	SUCCESS
CNOT4	4850	.	GRCh37	7	135122994	135122994	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	32	230	0	ENST00000315544.5:c.86del	p.Phe29SerfsTer50	p.F29Sfs*50	ENST00000315544	NM_001190848.1	29	tTc/tc	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS55165.1	86	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGGGAAAAAG	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2,Pfam_domain:PF14570,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000445508	.	2/12	.	.	.	.	.	.	.	.	COSM3718918,COSM3718920,COSM3718919,COSM3718921,COSM3718917	2/12	PASS	ENST00000541284	Transcript	.	.	ENSG00000080802	7880	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	CNOT4_HUMAN	CNOT4	HGNC	.	.	UPI00004166A8	deletion	CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000356162,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000541284,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000451834,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000414802,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000423368,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000361528,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000315544,;CNOT4,frameshift_variant,p.Phe29SerfsTer50,ENST00000428680,;CNOT4,non_coding_transcript_exon_variant,,ENST00000491203,;CNOT4,non_coding_transcript_exon_variant,,ENST00000465721,;CNOT4,non_coding_transcript_exon_variant,,ENST00000498534,;	417	230	237	SUCCESS
TTC26	79989	.	GRCh37	7	138818602	138818602	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs139069274	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	248	23	227	0	ENST00000464848.1:c.-2A>G		p.*1*	ENST00000464848	NM_001287513.1			0	G:0	G:0.0015	.	G:0	.	G	.	protein_coding	YES	CCDS5852.1	.	MUTECT|MUSE|VARSCANS	.	CGTCAAGATGG	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0006	ENSP00000419279	G:0.001	1/18	.	.	.	.	.	.	.	.	rs139069274	1/18	PASS	ENST00000464848	Transcript	.	G:0.0006	ENSG00000105948	21882	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	TTC26_HUMAN	TTC26	HGNC	B7Z1H0_HUMAN	.	UPI000020FBAD	SNV	TTC26,5_prime_UTR_variant,,ENST00000430935,;TTC26,5_prime_UTR_variant,,ENST00000495038,;TTC26,5_prime_UTR_variant,,ENST00000478836,;TTC26,5_prime_UTR_variant,,ENST00000343187,;TTC26,5_prime_UTR_variant,,ENST00000474035,;TTC26,5_prime_UTR_variant,,ENST00000464848,;TTC26,non_coding_transcript_exon_variant,,ENST00000468866,;TTC26,non_coding_transcript_exon_variant,,ENST00000481482,;TTC26,non_coding_transcript_exon_variant,,ENST00000479132,;TTC26,5_prime_UTR_variant,,ENST00000476296,;	79	227	271	SUCCESS
HDAC9	9734	.	GRCh37	7	18688120	18688120	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	55	0	ENST00000432645.2:c.1272G>A	p.Leu424=	p.L424=	ENST00000432645	NM_058176.2	424	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47553.1	1281	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGGCAAC	NONE	.	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,synonymous_variant,p.%3D,ENST00000401921,;HDAC9,synonymous_variant,p.%3D,ENST00000405010,;HDAC9,synonymous_variant,p.%3D,ENST00000428307,;HDAC9,synonymous_variant,p.%3D,ENST00000441542,;HDAC9,synonymous_variant,p.%3D,ENST00000417496,;HDAC9,synonymous_variant,p.%3D,ENST00000406072,;HDAC9,synonymous_variant,p.%3D,ENST00000406451,;HDAC9,synonymous_variant,p.%3D,ENST00000456174,;HDAC9,synonymous_variant,p.%3D,ENST00000432645,;HDAC9,synonymous_variant,p.%3D,ENST00000524023,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1281	55	58	SUCCESS
PDGFA	5154	.	GRCh37	7	540840	540840	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	25	162	0	ENST00000354513.5:c.493A>G	p.Lys165Glu	p.K165E	ENST00000354513	NM_002607.5	165	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS34578.1	493	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTTAATT	NONE	.	.	Superfamily_domains:SSF57501,SMART_domains:SM00141,Gene3D:2.10.90.10,Pfam_domain:PF00341,hmmpanther:PTHR11633,hmmpanther:PTHR11633:SF3,PROSITE_profiles:PS50278	.	.	ENSP00000346508	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000354513	Transcript	.	.	ENSG00000197461	8799	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.326)	.	tolerated(0.06)	.	PDGFA_HUMAN	PDGFA	HGNC	Q9UGN0_HUMAN	.	UPI00001314A2	SNV	PDGFA,missense_variant,p.Lys165Glu,ENST00000354513,;PDGFA,missense_variant,p.Lys165Glu,ENST00000402802,;PDGFA,missense_variant,p.Lys174Glu,ENST00000400761,;PDGFA,non_coding_transcript_exon_variant,,ENST00000482462,;	886	162	176	SUCCESS
ZNF716	441234	.	GRCh37	7	57528611	57528611	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs202240678	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	17	136	0	ENST00000420713.1:c.444T>A	p.Cys148Ter	p.C148*	ENST00000420713	NM_001159279.1	148	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS55112.1	444	RADIA|MUTECT|MUSE|VARSCANS	.	CAATGTTTGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100	.	.	ENSP00000394248	.	4/4	.	.	.	.	.	.	.	.	rs202240678	4/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,stop_gained,p.Cys148Ter,ENST00000420713,;	556	136	136	SUCCESS
CSMD3	114788	.	GRCh37	8	113348909	113348909	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	19	74	0	ENST00000297405.5:c.6991G>C	p.Glu2331Gln	p.E2331Q	ENST00000297405	NM_198123.1	2331	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS6315.1	6991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCTGTTT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	44/71	.	.	.	.	.	.	.	.	COSM3951182,COSM3951183	44/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	1,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Glu2261Gln,ENST00000352409,;CSMD3,missense_variant,p.Glu2227Gln,ENST00000455883,;CSMD3,missense_variant,p.Glu2331Gln,ENST00000297405,;CSMD3,missense_variant,p.Glu1601Gln,ENST00000339701,;CSMD3,missense_variant,p.Glu2291Gln,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7236	74	89	SUCCESS
SQLE	6713	.	GRCh37	8	126030343	126030343	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	34	0	ENST00000265896.5:c.1247T>G	p.Leu416Arg	p.L416R	ENST00000265896	NM_003129.3	416	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS47918.1	1247	RADIA|MUTECT|MUSE|VARSCANS	.	TCCACTTACTG	NONE	.	.	Prints_domain:PR00420,Superfamily_domains:SSF51905,Gene3D:3.50.50.60,Pfam_domain:PF08491,hmmpanther:PTHR10835	.	.	ENSP00000265896	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000265896	Transcript	.	.	ENSG00000104549	11279	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ERG1_HUMAN	SQLE	HGNC	Q9UNR6_HUMAN,H0YBN7_HUMAN,B4DHX0_HUMAN	.	UPI0000073EEE	SNV	SQLE,missense_variant,p.Leu68Arg,ENST00000518931,;SQLE,missense_variant,p.Leu416Arg,ENST00000265896,;SQLE,missense_variant,p.Leu321Arg,ENST00000523430,;SQLE,non_coding_transcript_exon_variant,,ENST00000520493,;SQLE,non_coding_transcript_exon_variant,,ENST00000518604,;	2145	34	41	SUCCESS
LGI3	203190	.	GRCh37	8	22006415	22006415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	29	204	0	ENST00000306317.2:c.905G>A	p.Gly302Asp	p.G302D	ENST00000306317	NM_139278.2	302	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS6025.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCCGCCA	NONE	.	.	PROSITE_profiles:PS50912,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF10,Pfam_domain:PF03736,Superfamily_domains:0046203	.	.	ENSP00000302297	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000306317	Transcript	.	.	ENSG00000168481	18711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	LGI3_HUMAN	LGI3	HGNC	.	.	UPI0000070742	SNV	LGI3,missense_variant,p.Gly302Asp,ENST00000306317,;LGI3,missense_variant,p.Gly278Asp,ENST00000424267,;LGI3,downstream_gene_variant,,ENST00000517694,;LGI3,non_coding_transcript_exon_variant,,ENST00000520124,;LGI3,downstream_gene_variant,,ENST00000518365,;	1195	204	143	SUCCESS
MMP16	4325	.	GRCh37	8	89180168	89180168	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	6	135	0	ENST00000286614.6:c.439G>T	p.Glu147Ter	p.E147*	ENST00000286614	NM_005941.4	147	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6246.1	439	MUTECT|MUSE	.	AGTCTCAGGGT	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF55486	.	.	ENSP00000286614	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,stop_gained,p.Glu147Ter,ENST00000286614,;MMP16,stop_gained,p.Glu164Ter,ENST00000522726,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	721	135	132	SUCCESS
TMEFF1	8577	.	GRCh37	9	103271393	103271393	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769712998	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	51	0	ENST00000374879.4:c.413T>C	p.Ile138Thr	p.I138T	ENST00000374879	NM_003692.4	138	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS6750.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAATAGCAA	NONE	byFrequency	.	Superfamily_domains:SSF100895,SMART_domains:SM00280,Gene3D:3.30.60.30,Pfam_domain:PF07648,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF255,PROSITE_profiles:PS51465	.	.	ENSP00000364013	.	3/10	.	.	.	.	.	.	.	.	rs769712998	3/10	PASS	ENST00000374879	Transcript	.	.	ENSG00000241697	11866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.04)	.	TEFF1_HUMAN	TMEFF1	HGNC	.	.	UPI000004ECA5	SNV	TMEFF1,missense_variant,p.Ile99Thr,ENST00000334943,;TMEFF1,missense_variant,p.Ile138Thr,ENST00000374879,;MSANTD3-TMEFF1,missense_variant,p.Ile102Thr,ENST00000502978,;	845	51	55	SUCCESS
ORM2	5005	.	GRCh37	9	117093116	117093116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757633576	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	18	123	0	ENST00000431067.2:c.302G>A	p.Arg101Gln	p.R101Q	ENST00000431067	NM_000608.2	101	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6804.1	302	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGGGAGA	NONE	byFrequency	.	hmmpanther:PTHR11967:SF2,hmmpanther:PTHR11967,Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036899,Superfamily_domains:SSF50814,Prints_domain:PR00708	.	.	ENSP00000394936	.	3/6	.	.	.	.	.	.	.	.	rs757633576	3/6	PASS	ENST00000431067	Transcript	.	.	ENSG00000228278	8499	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	A1AG2_HUMAN	ORM2	HGNC	.	.	UPI0000052DC9	SNV	ORM2,missense_variant,p.Arg101Gln,ENST00000431067,;ORM2,3_prime_UTR_variant,,ENST00000412657,;AKNA,downstream_gene_variant,,ENST00000307564,;AKNA,downstream_gene_variant,,ENST00000374079,;ORM1,downstream_gene_variant,,ENST00000259396,;	338	123	138	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123210343	123210343	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	23	182	0	ENST00000349780.4:c.2855A>G	p.Tyr952Cys	p.Y952C	ENST00000349780	NM_018249.5	952	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6823.1	2855	RADIA|MUTECT|MUSE|VARSCANS	.	GACGATACATA	NONE	.	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	22/38	.	.	.	.	.	.	.	.	.	22/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.926)	.	tolerated(0.18)	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,missense_variant,p.Tyr346Cys,ENST00000416449,;CDK5RAP2,missense_variant,p.Tyr952Cys,ENST00000349780,;CDK5RAP2,missense_variant,p.Tyr920Cys,ENST00000360822,;CDK5RAP2,missense_variant,p.Tyr3Cys,ENST00000425647,;CDK5RAP2,missense_variant,p.Tyr952Cys,ENST00000360190,;CDK5RAP2,missense_variant,p.Tyr952Cys,ENST00000359309,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000479584,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	3035	182	176	SUCCESS
AK8	158067	.	GRCh37	9	135698618	135698618	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	122	0	ENST00000298545.3:c.863T>A	p.Leu288Gln	p.L288Q	ENST00000298545	NM_152572.2	288	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6954.1	863	MUTECT|MUSE	.	GGGCCAGGAGG	NONE	.	.	HAMAP:MF_00235,hmmpanther:PTHR23359:SF64,hmmpanther:PTHR23359,Gene3D:3.40.50.300,Pfam_domain:PF00406,Superfamily_domains:SSF52540	.	.	ENSP00000298545	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000298545	Transcript	.	.	ENSG00000165695	26526	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KAD8_HUMAN	AK8	HGNC	.	.	UPI0000071236	SNV	AK8,missense_variant,p.Leu288Gln,ENST00000298545,;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;	1385	122	103	SUCCESS
PMPCA	23203	.	GRCh37	9	139313081	139313081	+	synonymous_variant	Silent	SNP	C	C	G	rs553050557	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	8	118	0	ENST00000371717.3:c.1065C>G	p.Pro355=	p.P355=	ENST00000371717	NM_015160.1	355	ccC/ccG	0	.	T:0.0015	.	T:0	.	G	P	protein_coding	YES	CCDS35180.1	1065	MUTECT|MUSE	.	GGGCCCGGCAA	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11851:SF49,hmmpanther:PTHR11851,Gene3D:3.30.830.10,Pfam_domain:PF05193,Superfamily_domains:SSF63411	T:0	.	ENSP00000360782	T:0	9/13	.	.	.	.	.	.	.	.	rs553050557	9/13	PASS	ENST00000371717	Transcript	.	T:0.0004	ENSG00000165688	18667	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	MPPA_HUMAN	PMPCA	HGNC	Q9BT52_HUMAN,Q5SXN0_HUMAN	.	UPI00000703D3	SNV	PMPCA,synonymous_variant,p.%3D,ENST00000444897,;PMPCA,synonymous_variant,p.%3D,ENST00000399219,;PMPCA,synonymous_variant,p.%3D,ENST00000371717,;PMPCA,downstream_gene_variant,,ENST00000371720,;PMPCA,non_coding_transcript_exon_variant,,ENST00000462616,;	1074	118	117	SUCCESS
PSIP1	11168	.	GRCh37	9	15471262	15471262	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	43	0	ENST00000380733.4:c.978-1271T>C		p.*326*	ENST00000380733				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6479.1	.	MUTECT|MUSE	.	TTTGCATAATG	NONE	.	.	.	.	.	ENSP00000370109	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380733	Transcript	.	.	ENSG00000164985	9527	.	.	MODIFIER	10/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSIP1_HUMAN	PSIP1	HGNC	Q8N4N4_HUMAN	.	UPI0000073FC4	SNV	PSIP1,3_prime_UTR_variant,,ENST00000380715,;PSIP1,intron_variant,,ENST00000397519,;PSIP1,intron_variant,,ENST00000380716,;PSIP1,intron_variant,,ENST00000481862,;PSIP1,intron_variant,,ENST00000380738,;PSIP1,intron_variant,,ENST00000380733,;PSIP1,downstream_gene_variant,,ENST00000495873,;	.	43	40	SUCCESS
SPAG8	26206	.	GRCh37	9	35810501	35810501	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	12	172	0	ENST00000475644.1:c.1135G>A	p.Glu379Lys	p.E379K	ENST00000475644		379	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6592.1	1135	RADIA|MUSE|VARSCANS	.	AGACTCAACCT	NONE	.	.	hmmpanther:PTHR15510	.	.	ENSP00000340982	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000340291	Transcript	.	.	ENSG00000137098	14105	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.599)	.	tolerated(0.17)	.	SPAG8_HUMAN	SPAG8	HGNC	F8WBP3_HUMAN	.	UPI000013E78B	SNV	SPAG8,missense_variant,p.Glu377Lys,ENST00000497810,;SPAG8,missense_variant,p.Glu379Lys,ENST00000340291,;SPAG8,missense_variant,p.Glu377Lys,ENST00000484764,;SPAG8,missense_variant,p.Glu379Lys,ENST00000396638,;HINT2,downstream_gene_variant,,ENST00000259667,;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000447210,;NPR2,downstream_gene_variant,,ENST00000421267,;NPR2,downstream_gene_variant,,ENST00000342694,;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,non_coding_transcript_exon_variant,,ENST00000463889,;SPAG8,non_coding_transcript_exon_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000471774,;HINT2,downstream_gene_variant,,ENST00000461169,;SPAG8,missense_variant,p.Glu379Lys,ENST00000475644,;SPAG8,3_prime_UTR_variant,,ENST00000471631,;SPAG8,3_prime_UTR_variant,,ENST00000495667,;SPAG8,3_prime_UTR_variant,,ENST00000472605,;SPAG8,non_coding_transcript_exon_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000448821,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000469249,;	1260	172	127	SUCCESS
OR13J1	392309	.	GRCh37	9	35869767	35869767	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	124	0	ENST00000377981.2:c.632T>A	p.Leu211Gln	p.L211Q	ENST00000377981	NM_001004487.1	211	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS35011.1	632	MUTECT|MUSE	.	ATGCCAGGGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF38,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000367219	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377981	Transcript	.	.	ENSG00000168828	15108	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	O13J1_HUMAN	OR13J1	HGNC	.	.	UPI000003FF73	SNV	OR13J1,missense_variant,p.Leu211Gln,ENST00000377981,;	695	124	96	SUCCESS
TLE4	7091	.	GRCh37	9	82336795	82336795	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs373197227	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	66	1	ENST00000376552.2:c.1978A>T	p.Thr660Ser	p.T660S	ENST00000376552	NM_007005.3	660	Acc/Tcc	0	G:0	.	.	.	.	T	T/S	protein_coding	YES	CCDS43837.1	1978	MUTECT|MUSE	.	ACTTCACCTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	G:0.0002	ENSP00000365735	.	17/20	.	.	.	.	.	.	.	.	rs373197227	17/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	tolerated(0.7)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.Thr297Ser,ENST00000376534,;TLE4,missense_variant,p.Thr660Ser,ENST00000376552,;TLE4,missense_variant,p.Thr692Ser,ENST00000376537,;TLE4,missense_variant,p.Thr591Ser,ENST00000376544,;TLE4,missense_variant,p.Thr692Ser,ENST00000376520,;TLE4,missense_variant,p.Thr635Ser,ENST00000265284,;TLE4,downstream_gene_variant,,ENST00000496114,;TLE4,intron_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;RP11-79D8.2,upstream_gene_variant,,ENST00000440700,;	2996	67	91	SUCCESS
NXF3	56000	.	GRCh37	X	102334164	102334164	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751182875	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	78	252	0	ENST00000395065.3:c.1363G>A	p.Gly455Arg	p.G455R	ENST00000395065	NM_022052.1	455	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS14503.1	1363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCGTTGA	NONE	byFrequency	.	PROSITE_profiles:PS50177,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	16/20	.	.	.	.	.	.	.	.	rs751182875	16/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,missense_variant,p.Gly455Arg,ENST00000395065,;NXF3,missense_variant,p.Gly332Arg,ENST00000427570,;NXF3,missense_variant,p.Gly127Arg,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,non_coding_transcript_exon_variant,,ENST00000468528,;NXF3,non_coding_transcript_exon_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000460791,;	1465	252	253	SUCCESS
KIAA1210	57481	.	GRCh37	X	118230575	118230575	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	65	1	ENST00000402510.2:c.1148C>T	p.Thr383Ile	p.T383I	ENST00000402510	NM_020721.1	383	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS48156.1	1148	RADIA|SOMATICSNIPER|VARSCANS	.	GCTGGGTGCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036,Pfam_domain:PF15262	.	.	ENSP00000384670	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.947)	.	deleterious(0.03)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Thr383Ile,ENST00000402510,;	1148	66	61	SUCCESS
MAGEA4	4103	.	GRCh37	X	151093077	151093077	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	116	0	ENST00000276344.2:c.941A>T	p.Glu314Val	p.E314V	ENST00000276344	NM_001011548.1	314	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS14702.1	941	MUTECT|MUSE|VARSCANS	.	GGAGGAAGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF48,hmmpanther:PTHR11736	.	.	ENSP00000353379	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360243	Transcript	.	.	ENSG00000147381	6802	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.032)	.	deleterious(0.01)	.	MAGA4_HUMAN	MAGEA4	HGNC	C9JZJ5_HUMAN,C9JK50_HUMAN,C9JIR1_HUMAN,C9J9C2_HUMAN,B4DTE6_HUMAN	.	UPI000013EA1F	SNV	MAGEA4,missense_variant,p.Glu314Val,ENST00000370335,;MAGEA4,missense_variant,p.Glu314Val,ENST00000276344,;MAGEA4,missense_variant,p.Glu314Val,ENST00000393921,;MAGEA4,missense_variant,p.Glu314Val,ENST00000370337,;MAGEA4,missense_variant,p.Glu314Val,ENST00000393920,;MAGEA4,missense_variant,p.Glu314Val,ENST00000370340,;MAGEA4,missense_variant,p.Glu314Val,ENST00000360243,;MAGEA4,downstream_gene_variant,,ENST00000416020,;MAGEA4,downstream_gene_variant,,ENST00000448295,;MAGEA4,downstream_gene_variant,,ENST00000431971,;MAGEA4,downstream_gene_variant,,ENST00000425182,;MAGEA4,downstream_gene_variant,,ENST00000431963,;MAGEA4,downstream_gene_variant,,ENST00000441865,;MAGEA4,downstream_gene_variant,,ENST00000430273,;MAGEA4,downstream_gene_variant,,ENST00000457310,;	1208	116	89	SUCCESS
OR8B4	283162	.	GRCh37	11	124294075	124294075	+	synonymous_variant	Silent	SNP	C	C	T	rs1280391444	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	85	0	ENST00000356130.3:c.693G>A	p.Glu231=	p.E231=	ENST00000356130	NM_001005196.1	231	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS31710.1	693	MUTECT|MUSE	.	CTGCCCTCTGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000348449	.	1/1	.	.	.	.	.	.	.	.	COSM3868711	1/1	PASS	ENST00000356130	Transcript	.	.	ENSG00000198657	8473	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	OR8B4_HUMAN	OR8B4	HGNC	.	.	UPI00000015B0	SNV	OR8B4,synonymous_variant,p.%3D,ENST00000356130,;	715	85	88	SUCCESS
OR51A4	401666	.	GRCh37	11	4967860	4967860	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	11	198	0	ENST00000380373.2:c.471G>T	p.Leu157=	p.L157=	ENST00000380373	NM_001005329.1	157	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31367.1	471	MUTECT|MUSE	.	AGAACCAGGAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF61,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369731	.	1/1	.	.	.	.	.	.	.	.	COSM687818	1/1	PASS	ENST00000380373	Transcript	.	.	ENSG00000205497	14795	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	O51A4_HUMAN	OR51A4	HGNC	.	.	UPI0000047195	SNV	OR51A4,synonymous_variant,p.%3D,ENST00000380373,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	497	198	201	SUCCESS
LRRK2	120892	.	GRCh37	12	40715938	40715938	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	31	0	ENST00000298910.7:c.5272C>T	p.His1758Tyr	p.H1758Y	ENST00000298910	NM_198578.3	1758	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS31774.1	5272	RADIA|MUSE	.	ACAATCATCCA	BUFFER|p.D1756G|c.5267A>G|4	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	.	.	ENSP00000298910	.	36/51	.	.	.	.	.	.	.	.	.	36/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.081)	.	deleterious(0.01)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.His1758Tyr,ENST00000298910,;LRRK2,downstream_gene_variant,,ENST00000481256,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	5330	31	39	SUCCESS
VWA3A	146177	.	GRCh37	16	22152958	22152958	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	11	140	1	ENST00000389398.5:c.2439A>T	p.Ser813=	p.S813=	ENST00000389398	NM_173615.3	813	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45441.1	2439	MUTECT|MUSE|VARSCANS	.	AAGTCAAGGGA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105	.	.	ENSP00000374049	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,synonymous_variant,p.%3D,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,upstream_gene_variant,,ENST00000563755,;VWA3A,downstream_gene_variant,,ENST00000563389,;VWA3A,downstream_gene_variant,,ENST00000568328,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;VWA3A,downstream_gene_variant,,ENST00000566668,;	2535	141	137	SUCCESS
HEATR3	55027	.	GRCh37	16	50106573	50106573	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	111	0	ENST00000299192.7:c.570G>T	p.Val190=	p.V190=	ENST00000299192	NM_182922.2	190	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS10739.1	570	MUTECT|MUSE	.	ATTGTGTTAAA	NONE	.	.	hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000299192	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,synonymous_variant,p.%3D,ENST00000299192,;HEATR3,synonymous_variant,p.%3D,ENST00000285767,;HEATR3,downstream_gene_variant,,ENST00000561819,;	761	111	67	SUCCESS
ASIC2	40	.	GRCh37	17	32483120	32483120	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	12	125	0	ENST00000359872.6:c.432G>A	p.Lys144=	p.K144=	ENST00000359872	NM_001094.4	144	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	.	CCDS42296.1	432	MUTECT|MUSE	.	TAGTGCTTGAA	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF128,Gene3D:2qtsA03,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	.	.	ENSP00000352934	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000359872	Transcript	.	.	ENSG00000108684	99	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASIC2_HUMAN	ASIC2	HGNC	.	.	UPI00000441F0	SNV	ASIC2,synonymous_variant,p.%3D,ENST00000359872,;ASIC2,downstream_gene_variant,,ENST00000583395,;	1194	125	164	SUCCESS
CA4	762	.	GRCh37	17	58235740	58235740	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	7	92	0	ENST00000300900.4:c.677C>T	p.Thr226Ile	p.T226I	ENST00000300900	NM_000717.3	226	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS11624.1	677	MUTECT|MUSE	.	CACCACACCGA	NONE	.	.	Superfamily_domains:SSF51069,SMART_domains:SM01057,Gene3D:3.10.200.10,Pfam_domain:PF00194,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF95,PROSITE_profiles:PS51144	.	.	ENSP00000300900	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000300900	Transcript	.	.	ENSG00000167434	1375	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	CAH4_HUMAN	CA4	HGNC	Q6FHI7_HUMAN,K7ENI8_HUMAN	.	UPI000004EC91	SNV	CA4,missense_variant,p.Thr40Ile,ENST00000587265,;CA4,missense_variant,p.Thr226Ile,ENST00000300900,;CA4,missense_variant,p.Thr98Ile,ENST00000590203,;CA4,downstream_gene_variant,,ENST00000591725,;CA4,3_prime_UTR_variant,,ENST00000586876,;CA4,downstream_gene_variant,,ENST00000585705,;	776	92	117	SUCCESS
DNAH17	8632	.	GRCh37	17	76451796	76451796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	7	179	0	ENST00000389840.5:c.10058G>A	p.Gly3353Asp	p.G3353D	ENST00000389840		3353	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	.	10058	MUTECT|MUSE	.	AGTAGCCCACG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000374490	.	63/81	.	.	.	.	.	.	.	.	.	63/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Gly3362Asp,ENST00000585328,;DNAH17,missense_variant,p.Gly3353Asp,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000592152,;DNAH17,intron_variant,,ENST00000586052,;DNAH17,missense_variant,p.Gly568Asp,ENST00000591369,;	10183	179	166	SUCCESS
MYO5B	4645	.	GRCh37	18	47390748	47390748	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	43	0	ENST00000285039.7:c.3606G>T	p.Arg1202Ser	p.R1202S	ENST00000285039	NM_001080467.2	1202	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS42436.1	3606	MUTECT|MUSE|VARSCANS	.	TCTTGCCTCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356	.	.	ENSP00000285039	.	28/40	.	.	.	.	.	.	.	.	.	28/40	PASS	ENST00000285039	Transcript	.	.	ENSG00000167306	7603	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.792)	.	tolerated(0.06)	.	MYO5B_HUMAN	MYO5B	HGNC	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN	.	UPI00001D7B21	SNV	MYO5B,missense_variant,p.Arg343Ser,ENST00000324581,;MYO5B,missense_variant,p.Arg1202Ser,ENST00000285039,;MYO5B,missense_variant,p.Arg346Ser,ENST00000592779,;MYO5B,splice_region_variant,,ENST00000587895,;	3906	43	43	SUCCESS
AXL	558	.	GRCh37	19	41743920	41743920	+	synonymous_variant	Silent	SNP	G	G	A	rs760246352	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	5	157	0	ENST00000301178.4:c.855G>A	p.Ser285=	p.S285=	ENST00000301178	NM_021913.4	285	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12575.1	855	MUTECT|MUSE	.	ACCTCGCAAGC	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF3,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000301178	.	7/20	.	.	.	.	.	.	.	.	rs760246352	7/20	PASS	ENST00000301178	Transcript	.	.	ENSG00000167601	905	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UFO_HUMAN	AXL	HGNC	Q15839_HUMAN,M0R0W6_HUMAN	.	UPI000013E6DB	SNV	AXL,synonymous_variant,p.%3D,ENST00000593513,;AXL,synonymous_variant,p.%3D,ENST00000359092,;AXL,synonymous_variant,p.%3D,ENST00000301178,;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	1045	157	137	SUCCESS
IRGC	56269	.	GRCh37	19	44223141	44223141	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764477711	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	37	0	ENST00000244314.5:c.431G>A	p.Arg144His	p.R144H	ENST00000244314	NM_019612.3	144	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12629.1	431	RADIA|MUTECT|MUSE	.	CCGCCGCTGCG	NONE	.	.	PROSITE_profiles:PS51716,hmmpanther:PTHR32341:SF7,hmmpanther:PTHR32341,Gene3D:3.40.50.300,Pfam_domain:PF05049,Superfamily_domains:SSF52540	.	.	ENSP00000244314	.	2/2	.	.	.	.	.	.	.	.	rs764477711,COSM3414122	2/2	PASS	ENST00000244314	Transcript	.	.	ENSG00000124449	28835	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.956)	.	deleterious(0.03)	0,1	IIGP5_HUMAN	IRGC	HGNC	J7NNX4_HUMAN	.	UPI000011DFC0	SNV	IRGC,missense_variant,p.Arg181His,ENST00000596627,;IRGC,missense_variant,p.Arg144His,ENST00000244314,;	630	37	14	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51961708	51961708	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	34	0	ENST00000321424.3:c.-67A>T		p.*23*	ENST00000321424	NM_014442.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33086.1	.	MUTECT|MUSE	.	GAAACTGAGGT	NONE	.	.	.	.	.	ENSP00000321077	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,5_prime_UTR_variant,,ENST00000340550,;SIGLEC8,5_prime_UTR_variant,,ENST00000321424,;SIGLEC8,upstream_gene_variant,,ENST00000430817,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;	1	34	26	SUCCESS
MUC16	94025	.	GRCh37	19	9024146	9024146	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	82	0	ENST00000397910.4:c.37126T>A	p.Ser12376Thr	p.S12376T	ENST00000397910	NM_024690.2	12376	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54212.1	37126	MUTECT|MUSE	.	GCTGGAGAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	18/84	.	.	.	.	.	.	.	.	.	18/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.19)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser12376Thr,ENST00000397910,;	37330	82	78	SUCCESS
AGMAT	79814	.	GRCh37	1	15909713	15909713	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	47	0	ENST00000375826.3:c.450A>C	p.Ala150=	p.A150=	ENST00000375826	NM_024758.4	150	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS160.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTGCTAC	NONE	.	.	PROSITE_profiles:PS51409,hmmpanther:PTHR11358,hmmpanther:PTHR11358:SF27,TIGRFAM_domain:TIGR01230,Pfam_domain:PF00491,Gene3D:3.40.800.10,PIRSF_domain:PIRSF036979,Superfamily_domains:SSF52768	.	.	ENSP00000364986	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000375826	Transcript	.	.	ENSG00000116771	18407	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPEB_HUMAN	AGMAT	HGNC	.	.	UPI00000412AC	SNV	AGMAT,synonymous_variant,p.%3D,ENST00000375826,;RP4-680D5.2,downstream_gene_variant,,ENST00000428945,;DNAJC16,intron_variant,,ENST00000483270,;	593	47	55	SUCCESS
CNTN2	6900	.	GRCh37	1	205041630	205041630	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	65	0	ENST00000331830.4:c.2751C>A	p.Gly917=	p.G917=	ENST00000331830	NM_005076.3	917	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1449.1	2751	MUTECT|MUSE	.	CCTGGCAACAT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50853	.	.	ENSP00000330633	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,synonymous_variant,p.%3D,ENST00000331830,;CNTN2,non_coding_transcript_exon_variant,,ENST00000525433,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;	3035	65	72	SUCCESS
RYR2	6262	.	GRCh37	1	237947093	237947093	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	7	128	1	ENST00000366574.2:c.12081G>A	p.Thr4027=	p.T4027=	ENST00000366574	NM_001035.2	4027	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS55691.1	12081	MUTECT|MUSE	.	TTGACGTCGTC	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50222	.	.	ENSP00000355533	.	90/105	.	.	.	.	.	.	.	.	.	90/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	12398	129	127	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74507289	74507289	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	39	0	ENST00000354431.4:c.1326T>A	p.Val442=	p.V442=	ENST00000354431	NM_001105659.1	442	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS41350.1	1326	RADIA|MUTECT|MUSE|VARSCANS	.	GCTACAACTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10588:SF206,hmmpanther:PTHR10588	.	.	ENSP00000346414	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000354431	Transcript	.	.	ENSG00000162620	28318	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,synonymous_variant,p.%3D,ENST00000395089,;LRRIQ3,synonymous_variant,p.%3D,ENST00000354431,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,;	1518	39	39	SUCCESS
SRC	6714	.	GRCh37	20	36031248	36031248	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	10	111	0	ENST00000358208.4:c.1367C>G	p.Thr456Ser	p.T456S	ENST00000358208		456	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS13294.1	1367	MUTECT|MUSE	.	GCTGACTGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000362680	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000373578	Transcript	.	.	ENSG00000197122	11283	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.366)	.	deleterious(0.04)	.	SRC_HUMAN	SRC	HGNC	Q9H7V3_HUMAN,Q71UK5_HUMAN	.	UPI0000000CB3	SNV	SRC,missense_variant,p.Thr456Ser,ENST00000358208,;SRC,missense_variant,p.Thr462Ser,ENST00000373558,;SRC,missense_variant,p.Thr456Ser,ENST00000373567,;SRC,missense_variant,p.Thr456Ser,ENST00000373578,;SRC,missense_variant,p.Thr456Ser,ENST00000445403,;SRC,missense_variant,p.Thr462Ser,ENST00000360723,;SRC,non_coding_transcript_exon_variant,,ENST00000493775,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,downstream_gene_variant,,ENST00000477475,;SRC,downstream_gene_variant,,ENST00000467556,;	1716	111	128	SUCCESS
KIAA0930	23313	.	GRCh37	22	45595761	45595761	+	synonymous_variant	Silent	SNP	G	G	A	rs771691737	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	58	0	ENST00000336156.5:c.1008C>T	p.Asp336=	p.D336=	ENST00000336156	NM_001009880.1	336	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS33666.1	1023	MUTECT|MUSE|VARSCANS	.	CCACCGTCGTC	NONE	byFrequency	.	hmmpanther:PTHR21477,hmmpanther:PTHR21477:SF13	.	.	ENSP00000251993	.	8/10	.	.	.	.	.	.	.	.	rs771691737	8/10	PASS	ENST00000251993	Transcript	.	.	ENSG00000100364	1314	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K0930_HUMAN	KIAA0930	HGNC	B0QY18_HUMAN	.	UPI00001C0A16	SNV	KIAA0930,synonymous_variant,p.%3D,ENST00000443310,;KIAA0930,synonymous_variant,p.%3D,ENST00000336156,;KIAA0930,synonymous_variant,p.%3D,ENST00000251993,;KIAA0930,synonymous_variant,p.%3D,ENST00000391627,;KIAA0930,synonymous_variant,p.%3D,ENST00000423262,;MIR1249,downstream_gene_variant,,ENST00000408671,;KIAA0930,non_coding_transcript_exon_variant,,ENST00000474515,;KIAA0930,non_coding_transcript_exon_variant,,ENST00000493003,;KIAA0930,non_coding_transcript_exon_variant,,ENST00000498418,;KIAA0930,non_coding_transcript_exon_variant,,ENST00000488038,;KIAA0930,downstream_gene_variant,,ENST00000440039,;KIAA0930,upstream_gene_variant,,ENST00000483374,;	1168	58	57	SUCCESS
LRP1B	53353	.	GRCh37	2	140995842	140995842	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	108	0	ENST00000389484.3:c.13439C>T	p.Pro4480Leu	p.P4480L	ENST00000389484	NM_018557.2	4480	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS2182.1	13439	MUTECT|MUSE	.	TAATAGGTTGT	NONE	.	.	.	.	.	ENSP00000374135	.	89/91	.	.	.	.	.	.	.	.	.	89/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.713)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Pro4480Leu,ENST00000389484,;LRP1B,missense_variant,p.Pro250Leu,ENST00000442974,;LRP1B,missense_variant,p.Pro712Leu,ENST00000437977,;	14411	108	86	SUCCESS
TTN	7273	.	GRCh37	2	179584914	179584914	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs201420077	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	4	104	0	ENST00000591111.1:c.22504G>C	p.Glu7502Gln	p.E7502Q	ENST00000591111		7502	Gag/Cag	0	G:0	.	.	.	.	G	E/Q	protein_coding	YES	CCDS59435.1	23455	MUTECT|MUSE	.	GCCCTCCACTA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	G:0.0011	ENSP00000467141	.	81/363	.	.	.	.	.	.	.	.	rs201420077	81/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu6575Gln,ENST00000342992,;TTN,missense_variant,p.Glu7502Gln,ENST00000591111,;TTN,missense_variant,p.Glu7819Gln,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	23680	104	106	SUCCESS
FRZB	2487	.	GRCh37	2	183703307	183703307	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	5	117	0	ENST00000295113.4:c.627G>A	p.Lys209=	p.K209=	ENST00000295113	NM_001463.3	209	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS2286.1	627	MUTECT|MUSE	.	TGGCACTTAGT	NONE	.	.	PROSITE_profiles:PS50189,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF76,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242	.	.	ENSP00000295113	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000295113	Transcript	.	.	ENSG00000162998	3959	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFRP3_HUMAN	FRZB	HGNC	D9ZGF6_HUMAN,Q53QT6_HUMAN,Q53QN4_HUMAN	.	UPI0000051054	SNV	FRZB,synonymous_variant,p.%3D,ENST00000295113,;	1237	117	117	SUCCESS
GBE1	2632	.	GRCh37	3	81635291	81635292	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	39	0	ENST00000429644.2:c.1286dup	p.Gly430TrpfsTer3	p.G430Wfs*3	ENST00000429644	NM_000158.3	429	ggt/ggGt	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS54612.1	1286-1287	VARSCANI*|PINDEL	.	AAACCACCCCC	NONE	.	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF110,Gene3D:3.20.20.80,PIRSF_domain:PIRSF000463,SMART_domains:SM00642,Superfamily_domains:SSF51445	.	.	ENSP00000410833	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000429644	Transcript	.	.	ENSG00000114480	4180	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GLGB_HUMAN	GBE1	HGNC	.	.	UPI0000209A24	insertion	GBE1,frameshift_variant,p.Gly389TrpfsTer3,ENST00000489715,;GBE1,frameshift_variant,p.Gly430TrpfsTer3,ENST00000429644,;	1930-1931	39	48	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33891885	33891885	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1409276980	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	289	18	306	0	ENST00000504830.1:c.77A>G	p.Tyr26Cys	p.Y26C	ENST00000504830	NM_030955.2	26	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34140.1	77	MUTECT|MUSE	.	TCCCATAGCAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	.	.	ENSP00000422554	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.12)	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,missense_variant,p.Tyr26Cys,ENST00000515401,;ADAMTS12,missense_variant,p.Tyr26Cys,ENST00000504830,;ADAMTS12,missense_variant,p.Tyr26Cys,ENST00000352040,;RNU6-923P,upstream_gene_variant,,ENST00000364753,;ADAMTS12,upstream_gene_variant,,ENST00000509762,;	413	306	307	SUCCESS
NIPBL	25836	.	GRCh37	5	37016248	37016248	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	67	0	ENST00000282516.8:c.4752C>T	p.Leu1584=	p.L1584=	ENST00000282516	NM_133433.3	1584	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3920.1	4752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTCCTTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Superfamily_domains:SSF48371	.	.	ENSP00000282516	.	23/47	.	.	.	.	.	.	.	.	.	23/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,synonymous_variant,p.%3D,ENST00000448238,;NIPBL,synonymous_variant,p.%3D,ENST00000282516,;	5251	68	74	SUCCESS
OR11A1	26531	.	GRCh37	6	29395394	29395394	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745945077	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	61	0	ENST00000377147.2:c.25G>A	p.Glu9Lys	p.E9K	ENST00000377147	NM_013937.2	9	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34363.1	25	MUTECT|MUSE	.	AGTTTCGTTTC	NONE	byFrequency	.	hmmpanther:PTHR24242:SF178,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366354	.	5/5	.	.	.	.	.	.	.	.	rs745945077,COSM3430430	5/5	PASS	ENST00000377149	Transcript	.	.	ENSG00000204694	8176	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.001)	.	tolerated(0.15)	0,1	O11A1_HUMAN	OR11A1	HGNC	.	.	UPI000000DCA8	SNV	OR11A1,missense_variant,p.Glu9Lys,ENST00000377149,;OR11A1,missense_variant,p.Glu9Lys,ENST00000377148,;OR11A1,missense_variant,p.Glu9Lys,ENST00000377147,;OR5V1,intron_variant,,ENST00000377154,;	498	61	78	SUCCESS
SLC13A4	26266	.	GRCh37	7	135376053	135376053	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	6	124	0	ENST00000354042.4:c.1339C>A	p.Leu447Met	p.L447M	ENST00000354042	NM_012450.2	447	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5840.1	1339	MUTECT|MUSE	.	CCCCAGTGAGT	NONE	.	.	Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	.	.	ENSP00000297282	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	tolerated(0.29)	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,missense_variant,p.Leu447Met,ENST00000354042,;C7orf73,intron_variant,,ENST00000509448,;C7orf73,intron_variant,,ENST00000422968,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;	2029	124	119	SUCCESS
MGAM	8972	.	GRCh37	7	141770867	141770867	+	intron_variant	Intron	SNP	G	G	A	rs373367889	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	13	84	0	ENST00000549489.2:c.4618+5599G>A		p.*1540*	ENST00000549489	NM_004668.2			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS47727.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGTGGGG	NONE	byFrequency|byCluster	.	.	.	A:0.0003	ENSP00000447378	.	.	.	.	.	.	.	.	.	.	rs373367889	.	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODIFIER	38/47	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Arg1712His,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,;	.	84	107	SUCCESS
RHBDD2	57414	.	GRCh37	7	75511359	75511359	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	213	18	204	0	ENST00000006777.6:c.391G>T	p.Asp131Tyr	p.D131Y	ENST00000006777	NM_001040456.1	131	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS43602.1	391	MUTECT|MUSE	.	TGGAGGATGCC	NONE	.	.	Superfamily_domains:SSF144091,Pfam_domain:PF01694,Gene3D:2xovA00,hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF33	.	.	ENSP00000006777	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000006777	Transcript	.	.	ENSG00000005486	23082	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	RHBD2_HUMAN	RHBDD2	HGNC	.	.	UPI0000072213	SNV	RHBDD2,missense_variant,p.Asp131Tyr,ENST00000006777,;RHBDD2,5_prime_UTR_variant,,ENST00000318622,;RHBDD2,upstream_gene_variant,,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468644,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000466232,;RHBDD2,intron_variant,,ENST00000468304,;RHBDD2,downstream_gene_variant,,ENST00000476218,;RHBDD2,upstream_gene_variant,,ENST00000467406,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;	526	204	232	SUCCESS
ODF1	4956	.	GRCh37	8	103572783	103572783	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	11	176	0	ENST00000285402.3:c.424C>A	p.Arg142=	p.R142=	ENST00000285402	NM_024410.3	142	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6293.1	424	MUTECT|MUSE	.	AAGTTCGAGTG	NONE	.	.	PROSITE_profiles:PS01031,hmmpanther:PTHR17125:SF2,hmmpanther:PTHR17125,Gene3D:2.60.40.790,Pfam_domain:PF00011,Superfamily_domains:SSF49764	.	.	ENSP00000285402	.	2/2	.	.	.	.	.	.	.	.	COSM3643362	2/2	PASS	ENST00000285402	Transcript	.	.	ENSG00000155087	8113	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	ODFP1_HUMAN	ODF1	HGNC	.	.	UPI000013DDEA	SNV	ODF1,synonymous_variant,p.%3D,ENST00000285402,;ODF1,5_prime_UTR_variant,,ENST00000518835,;	580	176	219	SUCCESS
CSMD1	64478	.	GRCh37	8	2949136	2949136	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1371744003	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	26	0	ENST00000537824.1:c.7187C>T	p.Thr2396Ile	p.T2396I	ENST00000537824	NM_033225.5	2396	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS55189.1	7187	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAGTATGA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	48/70	.	.	.	.	.	.	.	.	.	48/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.743)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Thr2397Ile,ENST00000400186,;CSMD1,missense_variant,p.Thr2396Ile,ENST00000542608,;CSMD1,missense_variant,p.Thr2397Ile,ENST00000602723,;CSMD1,missense_variant,p.Thr1814Ile,ENST00000335551,;CSMD1,missense_variant,p.Thr2396Ile,ENST00000537824,;CSMD1,missense_variant,p.Thr2397Ile,ENST00000602557,;CSMD1,missense_variant,p.Thr2397Ile,ENST00000520002,;	7187	26	27	SUCCESS
DMD	1756	.	GRCh37	X	31525469	31525469	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	7	118	0	ENST00000357033.4:c.8319C>A	p.Val2773=	p.V2773=	ENST00000357033	NM_004007.2	2773	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14233.1	8319	MUTECT|MUSE	.	AACAGGACTGC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	56/79	.	.	.	.	.	.	.	.	.	56/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,synonymous_variant,p.%3D,ENST00000357033,;DMD,synonymous_variant,p.%3D,ENST00000358062,;DMD,synonymous_variant,p.%3D,ENST00000343523,;DMD,synonymous_variant,p.%3D,ENST00000378707,;DMD,synonymous_variant,p.%3D,ENST00000474231,;DMD,synonymous_variant,p.%3D,ENST00000378677,;DMD,synonymous_variant,p.%3D,ENST00000359836,;DMD,synonymous_variant,p.%3D,ENST00000541735,;DMD,non_coding_transcript_exon_variant,,ENST00000445312,;	8526	118	144	SUCCESS
CLCN5	1184	.	GRCh37	X	49840450	49840450	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	7	152	0	ENST00000307367.2:c.206G>A	p.Gly69Asp	p.G69D	ENST00000307367		69	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS48115.1	416	MUTECT|MUSE	.	ATCAGGTTCGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:SSF81340,Gene3D:1otsB00,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689	.	.	ENSP00000365256	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000376088	Transcript	.	.	ENSG00000171365	2023	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLCN5_HUMAN	CLCN5	HGNC	.	.	UPI0000212052	SNV	CLCN5,missense_variant,p.Gly69Asp,ENST00000307367,;CLCN5,missense_variant,p.Gly139Asp,ENST00000376091,;CLCN5,missense_variant,p.Gly69Asp,ENST00000376108,;CLCN5,missense_variant,p.Gly139Asp,ENST00000376088,;	1057	152	194	SUCCESS
KMT2D	8085	.	GRCh37	12	49427679	49427679	+	synonymous_variant	Silent	SNP	C	C	T	rs1555189181	.	TCGA-ED-A627-01	TCGA-ED-A627-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	22	0	ENST00000301067.7:c.10809G>A	p.Gln3603=	p.Q3603=	ENST00000301067	NM_003482.3	3603	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS44873.1	10809	MUTECT|MUSE	.	TGCTGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	COSM940018,COSM940017	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,synonymous_variant,p.%3D,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	10809	22	22	SUCCESS
ISLR2	57611	.	GRCh37	15	74425231	74425231	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A627-01	TCGA-ED-A627-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	33	0	ENST00000361742.3:c.136C>T	p.Pro46Ser	p.P46S	ENST00000361742	NM_001130136.1	46	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10259.1	136	MUTECT|MUSE	.	AGGTGCCGGAA	NONE	.	.	hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000355402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361742	Transcript	.	.	ENSG00000167178	29286	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ISLR2_HUMAN	ISLR2	HGNC	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN	.	UPI000004C60F	SNV	ISLR2,missense_variant,p.Pro46Ser,ENST00000565540,;ISLR2,missense_variant,p.Pro46Ser,ENST00000445793,;ISLR2,missense_variant,p.Pro46Ser,ENST00000565332,;ISLR2,missense_variant,p.Pro46Ser,ENST00000453268,;ISLR2,missense_variant,p.Pro46Ser,ENST00000561740,;ISLR2,missense_variant,p.Pro46Ser,ENST00000569886,;ISLR2,missense_variant,p.Pro46Ser,ENST00000361742,;ISLR2,missense_variant,p.Pro46Ser,ENST00000419208,;ISLR2,missense_variant,p.Pro46Ser,ENST00000435464,;ISLR2,missense_variant,p.Pro46Ser,ENST00000565159,;ISLR2,downstream_gene_variant,,ENST00000567206,;RP11-247C2.2,upstream_gene_variant,,ENST00000514871,;RP11-247C2.2,upstream_gene_variant,,ENST00000563727,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	905	33	54	SUCCESS
SLC22A4	6583	.	GRCh37	5	131647904	131647904	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A627-01	TCGA-ED-A627-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	33	0	ENST00000200652.3:c.444G>T	p.Leu148=	p.L148=	ENST00000200652	NM_003059.2	148	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4153.1	444	MUTECT|MUSE	.	TCCCTGTTCTT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF5,hmmpanther:PTHR24064,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473	.	.	ENSP00000200652	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000200652	Transcript	1	.	ENSG00000197208	10968	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22A4_HUMAN	SLC22A4	HGNC	D9N2T6_HUMAN	.	UPI000006DAB7	SNV	SLC22A4,synonymous_variant,p.%3D,ENST00000200652,;AC034220.3,non_coding_transcript_exon_variant,,ENST00000417795,;SLC22A4,non_coding_transcript_exon_variant,,ENST00000491257,;	618	33	50	SUCCESS
OLFM1	10439	.	GRCh37	9	137968703	137968703	+	intron_variant	Intron	SNP	G	G	T	rs566603017	.	TCGA-ED-A627-01	TCGA-ED-A627-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	49	0	ENST00000252854.4:c.96+1055G>T		p.*32*	ENST00000252854	NM_014279.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6986.1	.	MUTECT|MUSE	.	AGAGCGAGAGG	NONE	byCluster	.	.	.	.	ENSP00000252854	.	.	.	.	.	.	.	.	.	.	rs566603017	.	PASS	ENST00000252854	Transcript	.	.	ENSG00000130558	17187	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOE1_HUMAN	OLFM1	HGNC	Q6IMJ8_HUMAN,Q96BL8_HUMAN,F5H810_HUMAN,F5GZQ2_HUMAN,B3KR22_HUMAN	.	UPI000013CD8C	SNV	OLFM1,stop_gained,p.Glu48Ter,ENST00000371799,;OLFM1,intron_variant,,ENST00000277415,;OLFM1,intron_variant,,ENST00000252854,;OLFM1,downstream_gene_variant,,ENST00000371801,;	.	49	58	SUCCESS
MKI67	4288	.	GRCh37	10	129913861	129913861	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201650569	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	44	0	ENST00000368654.3:c.811G>A	p.Ala271Thr	p.A271T	ENST00000368654	NM_002417.4	271	Gca/Aca	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS7659.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCGTAAT	BUFFER|p.Y270Y|c.810C>T|4	byFrequency|byCluster	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	.	T:0.0001	ENSP00000357643	.	7/15	.	.	.	.	.	.	.	.	rs201650569,COSM916156	7/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated(1)	0,1	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Ala271Thr,ENST00000368654,;MKI67,intron_variant,,ENST00000368653,;MKI67,non_coding_transcript_exon_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,;	1187	44	77	SUCCESS
PLXDC2	84898	.	GRCh37	10	20432307	20432307	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	70	1	ENST00000377252.4:c.625A>C	p.Ser209Arg	p.S209R	ENST00000377252	NM_032812.7	209	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS7132.1	625	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCAGTGTA	CODON|p.P208L|c.623C>T|6	.	.	hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055	.	.	ENSP00000366460	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000377252	Transcript	.	.	ENSG00000120594	21013	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	PXDC2_HUMAN	PLXDC2	HGNC	.	.	UPI0000048F2C	SNV	PLXDC2,missense_variant,p.Ser160Arg,ENST00000377242,;PLXDC2,missense_variant,p.Ser209Arg,ENST00000377252,;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	1466	71	103	SUCCESS
LRRTM3	347731	.	GRCh37	10	68686790	68686790	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	86	0	ENST00000361320.4:c.116G>T	p.Arg39Met	p.R39M	ENST00000361320	NM_178011.3	39	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS7270.1	116	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAGGTGTG	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	COSM539355,COSM539356	2/3	PASS	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	1,1	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,missense_variant,p.Arg39Met,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	694	86	94	SUCCESS
OR51I1	390063	.	GRCh37	11	5461996	5461996	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762410237	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	80	0	ENST00000380211.1:c.749T>C	p.Val250Ala	p.V250A	ENST00000380211	NM_001005288.2	250	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31382.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCACTGCA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF66,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000369559	.	1/1	.	.	.	.	.	.	.	.	rs762410237	1/1	PASS	ENST00000380211	Transcript	.	.	ENSG00000167359	15200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	O51I1_HUMAN	OR51I1	HGNC	.	.	UPI0000041CD0	SNV	OR51I1,missense_variant,p.Val250Ala,ENST00000380211,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	749	80	90	SUCCESS
SLCO2B1	11309	.	GRCh37	11	74880711	74880711	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	42	0	ENST00000289575.5:c.683G>A	p.Gly228Glu	p.G228E	ENST00000289575	NM_007256.4	228	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS8235.1	683	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGGATCC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87	.	.	ENSP00000289575	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000289575	Transcript	.	.	ENSG00000137491	10962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SO2B1_HUMAN	SLCO2B1	HGNC	E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN	.	UPI000013DF8A	SNV	SLCO2B1,missense_variant,p.Gly104Glu,ENST00000526839,;SLCO2B1,missense_variant,p.Gly228Glu,ENST00000289575,;SLCO2B1,missense_variant,p.Gly112Glu,ENST00000532236,;SLCO2B1,missense_variant,p.Gly206Glu,ENST00000428359,;SLCO2B1,missense_variant,p.Gly84Glu,ENST00000525650,;SLCO2B1,intron_variant,,ENST00000454962,;SLCO2B1,intron_variant,,ENST00000531756,;SLCO2B1,intron_variant,,ENST00000341411,;SLCO2B1,downstream_gene_variant,,ENST00000527180,;SLCO2B1,downstream_gene_variant,,ENST00000534186,;SLCO2B1,downstream_gene_variant,,ENST00000531713,;SLCO2B1,intron_variant,,ENST00000526660,;	1078	42	74	SUCCESS
OR10A6	390093	.	GRCh37	11	7949333	7949333	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs147185885	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	10	127	0	ENST00000309838.2:c.877C>T	p.Arg293Ter	p.R293*	ENST00000309838	NM_001004461.1	293	Cga/Tga	0	A:0	A:0.0008	.	A:0.0014	.	A	R/*	protein_coding	YES	CCDS31420.1	877	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCGCAAAC	CODON|p.R293Q|c.878G>A|5	byFrequency|byCluster|by1000G	.	Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF30,hmmpanther:PTHR26453	A:0	A:0.0002	ENSP00000312470	A:0	1/1	.	.	.	.	.	.	.	.	rs147185885	1/1	PASS	ENST00000309838	Transcript	.	A:0.0004	ENSG00000175393	15132	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	O10A6_HUMAN	OR10A6	HGNC	.	.	UPI0000041DF4	SNV	OR10A6,stop_gained,p.Arg293Ter,ENST00000309838,;	877	127	106	SUCCESS
SMCO2	341346	.	GRCh37	12	27623645	27623645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	40	0	ENST00000416383.1:c.81G>T	p.Lys27Asn	p.K27N	ENST00000416383	NM_001145010.1	27	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS44852.1	81	RADIA|MUTECT|MUSE|VARSCANS	.	ACTAAGAAAAA	NONE	.	.	Pfam_domain:PF14992,hmmpanther:PTHR22422,hmmpanther:PTHR22422:SF5	.	.	ENSP00000387617	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000416383	Transcript	.	.	ENSG00000165935	34448	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	deleterious(0.02)	.	SMCO2_HUMAN	SMCO2	HGNC	.	.	UPI000166275D	SNV	SMCO2,missense_variant,p.Lys27Asn,ENST00000298876,;SMCO2,missense_variant,p.Lys27Asn,ENST00000535986,;SMCO2,missense_variant,p.Lys27Asn,ENST00000416383,;SMCO2,upstream_gene_variant,,ENST00000538647,;SMCO2,non_coding_transcript_exon_variant,,ENST00000543991,;	257	40	35	SUCCESS
AKAP3	10566	.	GRCh37	12	4724998	4724998	+	synonymous_variant	Silent	SNP	C	C	T	rs763371692	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	17	88	0	ENST00000228850.1:c.2469G>A	p.Ser823=	p.S823=	ENST00000228850		823	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8531.1	2469	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCGACTG	NONE	byFrequency	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000440994	.	6/6	.	.	.	.	.	.	.	.	rs763371692	6/6	PASS	ENST00000545990	Transcript	.	.	ENSG00000111254	373	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKAP3_HUMAN	AKAP3	HGNC	F5H7P4_HUMAN,F5H2S4_HUMAN	.	UPI000013C8DF	SNV	AKAP3,synonymous_variant,p.%3D,ENST00000545990,;AKAP3,synonymous_variant,p.%3D,ENST00000228850,;DYRK4,downstream_gene_variant,,ENST00000540757,;DYRK4,downstream_gene_variant,,ENST00000545342,;DYRK4,downstream_gene_variant,,ENST00000544671,;DYRK4,downstream_gene_variant,,ENST00000542744,;DYRK4,downstream_gene_variant,,ENST00000010132,;DYRK4,downstream_gene_variant,,ENST00000543431,;RP11-500M8.7,intron_variant,,ENST00000536588,;DYRK4,downstream_gene_variant,,ENST00000544050,;DYRK4,downstream_gene_variant,,ENST00000545571,;DYRK4,downstream_gene_variant,,ENST00000541024,;	2994	88	117	SUCCESS
DPY19L2	283417	.	GRCh37	12	64057564	64057564	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760662810	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	314	43	451	0	ENST00000324472.4:c.424C>T	p.Arg142Trp	p.R142W	ENST00000324472	NM_173812.4	142	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31851.1	424	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGTTCCA	NONE	byFrequency	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF6,hmmpanther:PTHR31488	.	.	ENSP00000315988	.	3/22	.	.	.	.	.	.	.	.	rs760662810,COSM358727	3/22	PASS	ENST00000324472	Transcript	.	.	ENSG00000177990	19414	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.958)	.	deleterious(0)	0,1	D19L2_HUMAN	DPY19L2	HGNC	F5H4G6_HUMAN,F5H1L7_HUMAN,B4E191_HUMAN	.	UPI000006EC0C	SNV	DPY19L2,missense_variant,p.Arg142Trp,ENST00000324472,;DPY19L2,5_prime_UTR_variant,,ENST00000538147,;DPY19L2,downstream_gene_variant,,ENST00000542209,;RP11-415I12.3,intron_variant,,ENST00000509615,;DPY19L2,non_coding_transcript_exon_variant,,ENST00000536494,;DPY19L2,intron_variant,,ENST00000306389,;	608	451	358	SUCCESS
EEA1	8411	.	GRCh37	12	93170633	93170633	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757264285	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	73	0	ENST00000322349.8:c.4100T>C	p.Val1367Ala	p.V1367A	ENST00000322349	NM_003566.3	1367	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31874.1	4100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTACTGAA	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR23164:SF2,hmmpanther:PTHR23164,Pfam_domain:PF01363,Gene3D:3.30.40.10,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000317955	.	28/29	.	.	.	.	.	.	.	.	rs757264285	28/29	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,missense_variant,p.Val1367Ala,ENST00000322349,;PLEKHG7,downstream_gene_variant,,ENST00000344636,;	4365	73	76	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679668	37679668	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	24	0	ENST00000379800.3:c.-275G>A		p.*92*	ENST00000379800	NM_145203.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9363.1	.	MUTECT|MUSE	.	GATGTCGTGGG	NONE	.	.	.	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,5_prime_UTR_variant,,ENST00000379800,;	136	24	23	SUCCESS
YY1	7528	.	GRCh37	14	100705845	100705845	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	25	0	ENST00000262238.4:c.264G>T	p.Pro88=	p.P88=	ENST00000262238	NM_003403.4	88	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9957.1	264	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCTGGT	NONE	.	.	hmmpanther:PTHR14003:SF10,hmmpanther:PTHR14003,PIRSF_domain:PIRSF037113	.	.	ENSP00000262238	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000262238	Transcript	1	.	ENSG00000100811	12856	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TYY1_HUMAN	YY1	HGNC	G3V3M8_HUMAN	.	UPI00001378FC	SNV	YY1,synonymous_variant,p.%3D,ENST00000262238,;YY1,upstream_gene_variant,,ENST00000554804,;YY1,downstream_gene_variant,,ENST00000554371,;YY1,upstream_gene_variant,,ENST00000553625,;RP11-638I2.4,upstream_gene_variant,,ENST00000554537,;	524	25	41	SUCCESS
TEP1	7011	.	GRCh37	14	20876412	20876412	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765786802	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	63	2	ENST00000262715.5:c.187A>G	p.Lys63Glu	p.K63E	ENST00000262715	NM_007110.4	63	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS9548.1	187	SOMATICSNIPER|VARSCANS	.	TGGTTTTTCCA	NONE	byFrequency	.	Pfam_domain:PF05386,PROSITE_profiles:PS51226	.	.	ENSP00000262715	.	2/55	.	.	.	.	.	.	.	.	rs765786802,COSM1579833	2/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.582)	.	deleterious_low_confidence(0.02)	0,1	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Lys63Glu,ENST00000556549,;TEP1,missense_variant,p.Lys63Glu,ENST00000556935,;TEP1,missense_variant,p.Lys63Glu,ENST00000262715,;TEP1,missense_variant,p.Lys63Glu,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	228	65	74	SUCCESS
TJP1	7082	.	GRCh37	15	30010303	30010303	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	79	1	ENST00000346128.6:c.3896A>G	p.Lys1299Arg	p.K1299R	ENST00000346128	NM_175610.2	1299	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS42007.1	3896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTTTAGAT	NONE	.	.	hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	.	.	ENSP00000281537	.	22/28	.	.	.	.	.	.	.	.	COSM960313	22/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.039)	.	tolerated_low_confidence(0.15)	1	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,missense_variant,p.Lys1299Arg,ENST00000356107,;TJP1,missense_variant,p.Lys1223Arg,ENST00000400011,;TJP1,missense_variant,p.Lys1299Arg,ENST00000346128,;TJP1,missense_variant,p.Lys1219Arg,ENST00000545208,;TJP1,downstream_gene_variant,,ENST00000561307,;	4371	80	96	SUCCESS
TJP1	7082	.	GRCh37	15	30010304	30010304	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs763656697	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	77	1	ENST00000346128.6:c.3895A>T	p.Lys1299Ter	p.K1299*	ENST00000346128	NM_175610.2	1299	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS42007.1	3895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTTAGATG	NONE	.	.	hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	.	.	ENSP00000281537	.	22/28	.	.	.	.	.	.	.	.	rs763656697	22/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,stop_gained,p.Lys1299Ter,ENST00000356107,;TJP1,stop_gained,p.Lys1223Ter,ENST00000400011,;TJP1,stop_gained,p.Lys1299Ter,ENST00000346128,;TJP1,stop_gained,p.Lys1219Ter,ENST00000545208,;TJP1,downstream_gene_variant,,ENST00000561307,;	4370	78	96	SUCCESS
TTBK2	146057	.	GRCh37	15	43164898	43164898	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs960191942	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	62	1	ENST00000267890.6:c.128C>T	p.Thr43Ile	p.T43I	ENST00000267890	NM_173500.3	43	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS42029.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGTGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF83,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000267890	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000267890	Transcript	1	.	ENSG00000128881	19141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.04)	.	TTBK2_HUMAN	TTBK2	HGNC	H3BTY5_HUMAN	.	UPI0000043542	SNV	TTBK2,missense_variant,p.Thr43Ile,ENST00000567274,;TTBK2,missense_variant,p.Thr43Ile,ENST00000567840,;TTBK2,missense_variant,p.Thr43Ile,ENST00000267890,;TTBK2,missense_variant,p.Thr43Ile,ENST00000562880,;TTBK2,splice_region_variant,,ENST00000564431,;TTBK2,intron_variant,,ENST00000566931,;TTBK2,intron_variant,,ENST00000567485,;	237	63	81	SUCCESS
CILP	8483	.	GRCh37	15	65497772	65497772	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	42	0	ENST00000261883.4:c.457A>G	p.Ser153Gly	p.S153G	ENST00000261883	NM_003613.3	153	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS10203.1	457	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTCCAGA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000261883	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000261883	Transcript	1	.	ENSG00000138615	1980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.69)	.	CILP1_HUMAN	CILP	HGNC	.	.	UPI000013D21B	SNV	CILP,missense_variant,p.Ser153Gly,ENST00000261883,;	624	42	44	SUCCESS
DNAJA4	55466	.	GRCh37	15	78562999	78562999	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs931417166	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	74	0	ENST00000343789.3:c.293G>A	p.Arg98Gln	p.R98Q	ENST00000343789		98	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10299.2	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGGATGG	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_01152,hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF75,Superfamily_domains:SSF46565	.	.	ENSP00000378324	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000394855	Transcript	.	.	ENSG00000140403	14885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	tolerated(0.17)	.	DNJA4_HUMAN	DNAJA4	HGNC	Q8N2A9_HUMAN,Q7Z4D5_HUMAN,C9JDE6_HUMAN	.	UPI00001FE98C	SNV	DNAJA4,missense_variant,p.Arg127Gln,ENST00000394855,;DNAJA4,missense_variant,p.Arg98Gln,ENST00000394852,;DNAJA4,missense_variant,p.Arg71Gln,ENST00000446172,;DNAJA4,missense_variant,p.Arg98Gln,ENST00000343789,;DNAJA4,downstream_gene_variant,,ENST00000489435,;DNAJA4,missense_variant,p.Arg98Gln,ENST00000483802,;DNAJA4,missense_variant,p.Arg98Gln,ENST00000423642,;DNAJA4,missense_variant,p.Arg98Gln,ENST00000440911,;DNAJA4,non_coding_transcript_exon_variant,,ENST00000485075,;DNAJA4,intron_variant,,ENST00000542636,;DNAJA4,upstream_gene_variant,,ENST00000493321,;	608	74	102	SUCCESS
PKD1L2	114780	.	GRCh37	16	81167282	81167282	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs547588970	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	81	0	ENST00000525539.1:c.5743C>T	p.Arg1915Ter	p.R1915*	ENST00000525539	NM_052892.3	1915	Cga/Tga	0	.	A:0.0008	.	A:0	.	A	.	processed_transcript	.	.	.	MUTECT|MUSE	.	TCTTCGTGCTC	NONE	by1000G	.	.	A:0	.	.	A:0	2/11	.	.	.	.	.	.	.	.	rs547588970	2/11	common_in_exac	ENST00000534142	Transcript	.	A:0.0002	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	.	PKD1L2	HGNC	.	.	.	SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000534142,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000530363,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,stop_gained,p.Arg1915Ter,ENST00000525539,;PKD1L2,stop_gained,p.Arg1230Ter,ENST00000533478,;	132	81	65	SUCCESS
TADA2A	6871	.	GRCh37	17	35804825	35804825	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	128	0	ENST00000394395.2:c.559T>C	p.Leu187=	p.L187=	ENST00000394395	NM_001166105.1	187	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11319.1	559	RADIA|MUTECT|MUSE|VARSCANS	.	GGGACTTGAGA	NONE	.	.	hmmpanther:PTHR12374:SF18,hmmpanther:PTHR12374,PIRSF_domain:PIRSF025024	.	.	ENSP00000377918	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000394395	Transcript	.	.	ENSG00000108264	11531	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TAD2A_HUMAN	TADA2A	HGNC	K7ER71_HUMAN,K7EME2_HUMAN,K7EKE3_HUMAN,B3KU13_HUMAN	.	UPI000013C868	SNV	TADA2A,synonymous_variant,p.%3D,ENST00000394395,;TADA2A,synonymous_variant,p.%3D,ENST00000586023,;TADA2A,synonymous_variant,p.%3D,ENST00000417170,;TADA2A,synonymous_variant,p.%3D,ENST00000590957,;TADA2A,synonymous_variant,p.%3D,ENST00000225396,;TADA2A,downstream_gene_variant,,ENST00000589153,;TADA2A,downstream_gene_variant,,ENST00000590005,;TADA2A,non_coding_transcript_exon_variant,,ENST00000591992,;TADA2A,synonymous_variant,p.%3D,ENST00000490992,;TADA2A,3_prime_UTR_variant,,ENST00000587420,;TADA2A,3_prime_UTR_variant,,ENST00000587593,;	732	128	143	SUCCESS
KRT19	3880	.	GRCh37	17	39684492	39684492	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	22	0	ENST00000361566.3:c.8C>T	p.Ser3Phe	p.S3F	ENST00000361566	NM_002276.4	3	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS11399.1	8	MUTECT|MUSE	.	TGTAGGAAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF107	.	.	ENSP00000355124	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000361566	Transcript	.	.	ENSG00000171345	6436	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	K1C19_HUMAN	KRT19	HGNC	K7EMS3_HUMAN	.	UPI000006D379	SNV	KRT19,missense_variant,p.Ser3Phe,ENST00000361566,;KRT19,missense_variant,p.Ser3Phe,ENST00000455635,;KRT19,upstream_gene_variant,,ENST00000593096,;KRT19,upstream_gene_variant,,ENST00000479031,;KRT19,upstream_gene_variant,,ENST00000462611,;KRT19,upstream_gene_variant,,ENST00000471565,;KRT19,upstream_gene_variant,,ENST00000468880,;	69	22	33	SUCCESS
CAMTA2	23125	.	GRCh37	17	4877747	4877747	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	41	1	ENST00000348066.3:c.1949A>G	p.Lys650Arg	p.K650R	ENST00000348066	NM_015099.3	650	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS54072.1	2018	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCGCTTCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF4	.	.	ENSP00000412886	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000414043	Transcript	.	.	ENSG00000108509	18807	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.593)	.	tolerated(1)	.	CMTA2_HUMAN	CAMTA2	HGNC	.	.	UPI0001892BAE	SNV	CAMTA2,missense_variant,p.Lys650Arg,ENST00000348066,;CAMTA2,missense_variant,p.Lys673Arg,ENST00000414043,;CAMTA2,missense_variant,p.Lys652Arg,ENST00000381311,;CAMTA2,missense_variant,p.Lys650Arg,ENST00000358183,;CAMTA2,missense_variant,p.Lys655Arg,ENST00000572543,;CAMTA2,missense_variant,p.Lys649Arg,ENST00000361571,;RP5-1050D4.2,non_coding_transcript_exon_variant,,ENST00000430920,;CAMTA2,non_coding_transcript_exon_variant,,ENST00000572326,;CAMTA2,downstream_gene_variant,,ENST00000575365,;CAMTA2,3_prime_UTR_variant,,ENST00000574951,;CAMTA2,non_coding_transcript_exon_variant,,ENST00000575192,;CAMTA2,upstream_gene_variant,,ENST00000576872,;	2172	42	38	SUCCESS
BRIP1	83990	.	GRCh37	17	59821818	59821818	+	synonymous_variant	Silent	SNP	G	G	A	rs374362388	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	33	192	2	ENST00000259008.2:c.2232C>T	p.Asp744=	p.D744=	ENST00000259008	NM_032043.2	744	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS11631.1	2232	RADIA|VARSCANS	.	ATTGCGTCATA	SITE|p.D744D|c.2232C>T|3,SITE|p.D744D|c.2232C>T|3,BUFFER|p.A745T|c.2233G>A|3,BUFFER|p.A745T|c.2233G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11472:SF6,hmmpanther:PTHR11472,Pfam_domain:PF13307,TIGRFAM_domain:TIGR00604,SMART_domains:SM00491,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000259008	.	15/20	.	.	.	.	.	.	.	.	rs374362388,COSM1385002,COSM1385003	15/20	PASS	ENST00000259008	Transcript	.	.	ENSG00000136492	20473	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	.	.	.	0,1,1	FANCJ_HUMAN	BRIP1	HGNC	J3KS24_HUMAN	.	UPI000013D01F	SNV	BRIP1,synonymous_variant,p.%3D,ENST00000584322,;BRIP1,synonymous_variant,p.%3D,ENST00000259008,;BRIP1,synonymous_variant,p.%3D,ENST00000577598,;	2500	194	202	SUCCESS
FASN	2194	.	GRCh37	17	80049392	80049392	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771740708	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	12	103	0	ENST00000306749.2:c.1198G>A	p.Val400Met	p.V400M	ENST00000306749	NM_004104.4	400	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS11801.1	1198	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACGTTGG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.47.10,SMART_domains:SM00825,Superfamily_domains:SSF53901	.	.	ENSP00000304592	.	9/43	.	.	.	.	.	.	.	.	rs771740708	9/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Val400Met,ENST00000306749,;	1417	103	134	SUCCESS
PFAS	5198	.	GRCh37	17	8170947	8170947	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774571165	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	46	0	ENST00000314666.6:c.3346G>A	p.Gly1116Ser	p.G1116S	ENST00000314666	NM_012393.2	1116	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11136.1	3346	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGGCTTC	NONE	byFrequency	.	Superfamily_domains:SSF52317,TIGRFAM_domain:TIGR01735,Pfam_domain:PF13507,Gene3D:3.40.50.880,hmmpanther:PTHR10099:SF1,hmmpanther:PTHR10099,PROSITE_profiles:PS51273	.	.	ENSP00000313490	.	26/28	.	.	.	.	.	.	.	.	rs774571165	26/28	PASS	ENST00000314666	Transcript	.	.	ENSG00000178921	8863	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PUR4_HUMAN	PFAS	HGNC	Q9BR56_HUMAN,Q6P4B4_HUMAN,J3QSH6_HUMAN,J3QL39_HUMAN,J3KTL4_HUMAN,F5GWT9_HUMAN	.	UPI00001A95E5	SNV	PFAS,missense_variant,p.Gly1116Ser,ENST00000314666,;PFAS,missense_variant,p.Gly220Ser,ENST00000546020,;PFAS,missense_variant,p.Gly692Ser,ENST00000545834,;PFAS,downstream_gene_variant,,ENST00000583059,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,downstream_gene_variant,,ENST00000578979,;PFAS,downstream_gene_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,;	3479	46	63	SUCCESS
RYR1	6261	.	GRCh37	19	38993172	38993172	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751482960	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	26	0	ENST00000359596.3:c.7640C>T	p.Ala2547Val	p.A2547V	ENST00000359596		2547	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33011.1	7640	RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCGCTGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	48/106	.	.	.	.	.	.	.	.	rs751482960,COSM1172625	48/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.038)	.	.	0,1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ala2547Val,ENST00000355481,;RYR1,missense_variant,p.Ala2547Val,ENST00000360985,;RYR1,missense_variant,p.Ala2547Val,ENST00000359596,;RYR1,missense_variant,p.Ala365Val,ENST00000594335,;	7640	26	33	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51961351	51961351	+	synonymous_variant	Silent	SNP	T	T	C	rs944855147	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	151	0	ENST00000321424.3:c.291A>G	p.Gln97=	p.Q97=	ENST00000321424	NM_014442.2	97	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS33086.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTTGGAA	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000321077	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,synonymous_variant,p.%3D,ENST00000340550,;SIGLEC8,synonymous_variant,p.%3D,ENST00000321424,;SIGLEC8,synonymous_variant,p.%3D,ENST00000430817,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;	358	151	132	SUCCESS
TUBB4A	10382	.	GRCh37	19	6495427	6495427	+	synonymous_variant	Silent	SNP	C	C	T	rs531220948	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	37	0	ENST00000264071.2:c.1083G>A	p.Leu361=	p.L361=	ENST00000264071		361	ctG/ctA	0	.	G:0	.	G:0	.	T	L	protein_coding	YES	CCDS12168.1	1083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCAGGCC	NONE	by1000G	.	hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01163	G:0	.	ENSP00000264071	G:0.001	4/4	.	.	.	.	.	.	.	.	rs531220948	4/4	PASS	ENST00000264071	Transcript	1	G:0.0002	ENSG00000104833	20774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,synonymous_variant,p.%3D,ENST00000264071,;TUBB4A,synonymous_variant,p.%3D,ENST00000540257,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000594290,;TUBB4A,downstream_gene_variant,,ENST00000595324,;	1455	37	45	SUCCESS
CHTOP	26097	.	GRCh37	1	153615718	153615718	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138105302	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	66	0	ENST00000368694.3:c.419G>A	p.Arg140Gln	p.R140Q	ENST00000368694	NM_001206612.1	140	cGa/cAa	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS1048.1	419	MUTECT|MUSE|VARSCANS	.	GCTCCGAGGTG	NONE	byCluster	.	hmmpanther:PTHR19965,hmmpanther:PTHR19965:SF22	.	A:0.0001	ENSP00000357683	.	5/6	.	.	.	.	.	.	.	.	rs138105302	5/6	PASS	ENST00000368694	Transcript	.	.	ENSG00000160679	24511	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated(0.46)	.	CHTOP_HUMAN	CHTOP	HGNC	.	.	UPI00000467F6	SNV	CHTOP,missense_variant,p.Arg115Gln,ENST00000368687,;CHTOP,missense_variant,p.Arg140Gln,ENST00000368694,;CHTOP,3_prime_UTR_variant,,ENST00000368686,;CHTOP,intron_variant,,ENST00000403433,;CHTOP,intron_variant,,ENST00000368690,;CHTOP,intron_variant,,ENST00000495554,;	731	66	101	SUCCESS
PYHIN1	149628	.	GRCh37	1	158908870	158908870	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	14	97	0	ENST00000368140.1:c.412A>C	p.Lys138Gln	p.K138Q	ENST00000368140	NM_152501.4	138	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS1178.1	412	MUTECT|MUSE|VARSCANS	.	TGTAGAAAAGA	NONE	.	.	hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200	.	.	ENSP00000357122	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,missense_variant,p.Lys138Gln,ENST00000368135,;PYHIN1,missense_variant,p.Lys138Gln,ENST00000392254,;PYHIN1,missense_variant,p.Lys138Gln,ENST00000368140,;PYHIN1,missense_variant,p.Lys138Gln,ENST00000458222,;PYHIN1,missense_variant,p.Lys129Gln,ENST00000392252,;PYHIN1,missense_variant,p.Lys129Gln,ENST00000368138,;PYHIN1,upstream_gene_variant,,ENST00000485134,;	657	98	159	SUCCESS
PLEKHM2	23207	.	GRCh37	1	16059140	16059140	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1436914399	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	25	0	ENST00000375799.3:c.2839C>T	p.Pro947Ser	p.P947S	ENST00000375799	NM_015164.2	947	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44063.1	2839	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCCGCCCTGG	NONE	.	.	hmmpanther:PTHR22835:SF132,hmmpanther:PTHR22835	.	.	ENSP00000364956	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000375799	Transcript	.	.	ENSG00000116786	29131	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	deleterious(0.03)	.	PKHM2_HUMAN	PLEKHM2	HGNC	.	.	UPI00001C1D9C	SNV	PLEKHM2,missense_variant,p.Pro927Ser,ENST00000375793,;PLEKHM2,missense_variant,p.Pro947Ser,ENST00000375799,;SLC25A34,upstream_gene_variant,,ENST00000294454,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,non_coding_transcript_exon_variant,,ENST00000477849,;	3066	25	24	SUCCESS
LRRC52	440699	.	GRCh37	1	165532817	165532817	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202095448	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	50	0	ENST00000294818.1:c.698G>A	p.Arg233Gln	p.R233Q	ENST00000294818	NM_001005214.3	233	cGa/cAa	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS30930.1	698	MUTECT|MUSE	.	ACTCCGATACA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF37	A:0	.	ENSP00000294818	A:0.001	2/2	.	.	.	.	.	.	.	.	rs202095448	2/2	PASS	ENST00000294818	Transcript	.	A:0.0002	ENSG00000162763	32156	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.048)	A:0	tolerated(0.13)	.	LRC52_HUMAN	LRRC52	HGNC	.	.	UPI000013E1BE	SNV	LRRC52,missense_variant,p.Arg233Gln,ENST00000294818,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;RP11-280O1.2,intron_variant,,ENST00000438275,;	988	50	66	SUCCESS
RCC2	55920	.	GRCh37	1	17752173	17752173	+	synonymous_variant	Silent	SNP	G	G	A	rs1291395571	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	36	119	1	ENST00000375433.3:c.387C>T	p.Tyr129=	p.Y129=	ENST00000375433	NM_001136204.2	129	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS181.1	387	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGCGGTAAGC	NONE	.	.	hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF146,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000364585	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000375436	Transcript	.	.	ENSG00000179051	30297	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RCC2_HUMAN	RCC2	HGNC	.	.	UPI0000074608	SNV	RCC2,synonymous_variant,p.%3D,ENST00000375436,;RCC2,synonymous_variant,p.%3D,ENST00000375433,;	575	120	124	SUCCESS
KIAA1614	57710	.	GRCh37	1	180907742	180907742	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372082964	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	26	84	0	ENST00000367588.4:c.2813C>T	p.Thr938Met	p.T938M	ENST00000367588	NM_020950.1	938	aCg/aTg	0	T:0.0005	T:0	.	T:0	.	T	T/M	protein_coding	YES	CCDS41442.1	2813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACGGGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7	T:0.005	T:0	ENSP00000356560	T:0	6/9	.	.	.	.	.	.	.	.	rs372082964	6/9	PASS	ENST00000367588	Transcript	.	T:0.0010	ENSG00000135835	29327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	T:0	tolerated(0.37)	.	K1614_HUMAN	KIAA1614	HGNC	.	.	UPI00001C1D75	SNV	KIAA1614,missense_variant,p.Thr938Met,ENST00000367588,;KIAA1614,missense_variant,p.Thr559Met,ENST00000367587,;KIAA1614,non_coding_transcript_exon_variant,,ENST00000483705,;KIAA1614,upstream_gene_variant,,ENST00000461346,;	2868	84	141	SUCCESS
TRMT1L	81627	.	GRCh37	1	185125983	185125983	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	22	0	ENST00000367506.5:c.-139T>C		p.*47*	ENST00000367506	NM_001202423.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1366.1	.	MUTECT|MUSE	.	AACAGACAAAA	NONE	.	.	.	.	.	ENSP00000356476	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000367506	Transcript	.	.	ENSG00000121486	16782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRM1L_HUMAN	TRMT1L	HGNC	.	.	UPI000000DADB	SNV	TRMT1L,5_prime_UTR_variant,,ENST00000367504,;TRMT1L,5_prime_UTR_variant,,ENST00000367506,;SWT1,upstream_gene_variant,,ENST00000450350,;SWT1,upstream_gene_variant,,ENST00000367501,;SWT1,upstream_gene_variant,,ENST00000367500,;TRMT1L,intron_variant,,ENST00000487028,;	131	22	42	SUCCESS
SPATA17	128153	.	GRCh37	1	217955552	217955552	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145142638	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	14	202	0	ENST00000366933.4:c.760C>T	p.Arg254Cys	p.R254C	ENST00000366933	NM_138796.2	254	Cgc/Tgc	0	T:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS1519.1	760	MUTECT|MUSE	.	AACAACGCTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22706	.	T:0.0002	ENSP00000355900	.	8/11	.	.	.	.	.	.	.	.	rs145142638,COSM1958633	8/11	PASS	ENST00000366933	Transcript	.	.	ENSG00000162814	25184	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	SPT17_HUMAN	SPATA17	HGNC	R4GN71_HUMAN	.	UPI00000717C2	SNV	SPATA17,missense_variant,p.Arg254Cys,ENST00000366933,;SPATA17-AS1,non_coding_transcript_exon_variant,,ENST00000415765,;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;	815	202	245	SUCCESS
TRIM67	440730	.	GRCh37	1	231349708	231349708	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	19	116	0	ENST00000366653.5:c.2271C>G	p.Leu757=	p.L757=	ENST00000366653		757	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS44333.1	2271	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCAACCG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	.	ENSP00000355613	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	SNV	TRIM67,synonymous_variant,p.%3D,ENST00000444294,;TRIM67,synonymous_variant,p.%3D,ENST00000449018,;TRIM67,synonymous_variant,p.%3D,ENST00000366653,;TRIM67,intron_variant,,ENST00000366652,;	2271	116	147	SUCCESS
KIF26B	55083	.	GRCh37	1	245530501	245530501	+	synonymous_variant	Silent	SNP	G	G	A	rs537827807	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	206	19	133	0	ENST00000407071.2:c.831G>A	p.Ala277=	p.A277=	ENST00000407071	NM_018012.3	277	gcG/gcA	0	.	A:0	.	A:0.0014	.	A	A	protein_coding	YES	CCDS44342.1	831	MUTECT|MUSE|VARSCANS	.	GGGGCGGAAAA	NONE	by1000G	.	.	A:0	.	ENSP00000385545	A:0	3/15	.	.	.	.	.	.	.	.	rs537827807	3/15	PASS	ENST00000407071	Transcript	.	A:0.0002	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;AL359983.1,upstream_gene_variant,,ENST00000408238,;KIF26B,non_coding_transcript_exon_variant,,ENST00000479506,;	1271	133	226	SUCCESS
OR2T6	254879	.	GRCh37	1	248551768	248551768	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766459334	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	31	92	0	ENST00000355728.2:c.859C>T	p.Pro287Ser	p.P287S	ENST00000355728	NM_001005471.1	287	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS31114.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACCCTCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000347965	.	1/1	.	.	.	.	.	.	.	.	rs766459334	1/1	PASS	ENST00000355728	Transcript	.	.	ENSG00000198104	15018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	OR2T6_HUMAN	OR2T6	HGNC	.	.	UPI0000199147	SNV	OR2T6,missense_variant,p.Pro287Ser,ENST00000355728,;	859	92	137	SUCCESS
ISM1	140862	.	GRCh37	20	13279761	13279761	+	synonymous_variant	Silent	SNP	C	C	T	rs572363345	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	59	0	ENST00000262487.4:c.1050C>T	p.Asp350=	p.D350=	ENST00000262487	NM_080826.1	350	gaC/gaT	0	.	T:0.0008	.	T:0	.	T	D	protein_coding	YES	CCDS46579.1	1050	MUTECT|MUSE|VARSCANS	.	AAGGACGCCAG	NONE	by1000G	.	PROSITE_profiles:PS50856,hmmpanther:PTHR10199,Pfam_domain:PF03782,SMART_domains:SM00723	T:0	.	ENSP00000262487	T:0	6/6	.	.	.	.	.	.	.	.	rs572363345,COSM3404936	6/6	PASS	ENST00000262487	Transcript	.	T:0.0002	ENSG00000101230	16213	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0	.	0,1	ISM1_HUMAN	ISM1	HGNC	.	.	UPI00004A0D4C	SNV	ISM1,synonymous_variant,p.%3D,ENST00000262487,;TASP1,intron_variant,,ENST00000539805,;	1056	59	52	SUCCESS
DHX35	60625	.	GRCh37	20	37630379	37630379	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs539104890	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	41	0	ENST00000252011.3:c.649C>T	p.Arg217Trp	p.R217W	ENST00000252011	NM_021931.3	217	Cgg/Tgg	0	.	T:0	.	T:0.0014	.	T	R/W	protein_coding	YES	CCDS13310.1	649	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCGGGAT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934,SMART_domains:SM00487,Superfamily_domains:SSF52540	T:0	.	ENSP00000252011	T:0.001	9/22	.	.	.	.	.	.	.	.	rs539104890	9/22	PASS	ENST00000252011	Transcript	.	T:0.0004	ENSG00000101452	15861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	T:0	tolerated(0.18)	.	DHX35_HUMAN	DHX35	HGNC	.	.	UPI0000129088	SNV	DHX35,missense_variant,p.Arg217Trp,ENST00000252011,;DHX35,missense_variant,p.Arg217Trp,ENST00000373325,;DHX35,missense_variant,p.Arg186Trp,ENST00000373323,;DHX35,3_prime_UTR_variant,,ENST00000484417,;	682	41	48	SUCCESS
DSCR9	257203	.	GRCh37	21	38592566	38592566	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	24	0	ENST00000454482.2:n.173C>T		p.*58*	ENST00000454482				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33553.1	.	MUTECT|MUSE|VARSCANS	.	TCAAACCATGA	NONE	.	3155	.	.	.	ENSP00000311399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309117	Transcript	.	.	ENSG00000157538	3044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DSCR3_HUMAN	DSCR3	HGNC	.	.	UPI000012990B	SNV	DSCR3,downstream_gene_variant,,ENST00000288304,;DSCR3,downstream_gene_variant,,ENST00000539844,;DSCR3,downstream_gene_variant,,ENST00000309117,;DSCR9,non_coding_transcript_exon_variant,,ENST00000578829,;DSCR9,non_coding_transcript_exon_variant,,ENST00000584840,;DSCR9,non_coding_transcript_exon_variant,,ENST00000585273,;DSCR9,non_coding_transcript_exon_variant,,ENST00000454482,;DSCR9,intron_variant,,ENST00000581640,;DSCR9,upstream_gene_variant,,ENST00000543267,;AP001432.14,upstream_gene_variant,,ENST00000440629,;RN7SL678P,downstream_gene_variant,,ENST00000579533,;DSCR3,downstream_gene_variant,,ENST00000399000,;DSCR3,downstream_gene_variant,,ENST00000497493,;	.	24	41	SUCCESS
IGLV1-40	28825	.	GRCh37	22	22764552	22764552	+	synonymous_variant	Silent	SNP	G	G	A	rs199648304	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	81	0	ENST00000390299.2:c.294G>A	p.Gly98=	p.G98=	ENST00000390299		98	ggG/ggA	0	.	C:0.0008	.	C:0	.	A	G	IG_V_gene	YES	.	294	MUTECT|MUSE	.	ACTGGGCTCCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF116,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	C:0	.	ENSP00000374834	C:0	2/2	.	.	.	.	.	.	.	.	rs199648304	2/2	PASS	ENST00000390299	Transcript	.	C:0.0002	ENSG00000211653	5877	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	.	IGLV1-40	HGNC	Q5NV69_HUMAN	.	UPI0000F30337	SNV	IGLV1-40,synonymous_variant,p.%3D,ENST00000390299,;	345	81	79	SUCCESS
ACADL	33	.	GRCh37	2	211069378	211069379	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	53	0	ENST00000233710.3:c.796dup	p.Ile266AsnfsTer6	p.I266Nfs*6	ENST00000233710	NM_001608.3	266	ata/aAta	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS2389.1	796-797	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCGTATATCT	NONE	.	.	hmmpanther:PTHR10909:SF196,hmmpanther:PTHR10909,Gene3D:2.40.110.10,Superfamily_domains:SSF56645	.	.	ENSP00000233710	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000233710	Transcript	.	.	ENSG00000115361	88	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACADL_HUMAN	ACADL	HGNC	B4DJN8_HUMAN	.	UPI0000074739	insertion	ACADL,frameshift_variant,p.Ile266AsnfsTer6,ENST00000233710,;AC006994.2,intron_variant,,ENST00000412065,;ACADL,downstream_gene_variant,,ENST00000482502,;	1024-1025	53	72	SUCCESS
SLC15A2	6565	.	GRCh37	3	121630500	121630500	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	66	0	ENST00000489711.1:c.415C>A	p.Gln139Lys	p.Q139K	ENST00000489711	NM_021082.3	139	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3007.1	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACAAGTG	NONE	.	.	hmmpanther:PTHR11654:SF15,hmmpanther:PTHR11654,Pfam_domain:PF00854,TIGRFAM_domain:TIGR00926,Superfamily_domains:SSF103473	.	.	ENSP00000417085	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000489711	Transcript	.	.	ENSG00000163406	10921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.93)	.	S15A2_HUMAN	SLC15A2	HGNC	C9IZ38_HUMAN	.	UPI000013E27D	SNV	SLC15A2,missense_variant,p.Gln77Lys,ENST00000469013,;SLC15A2,missense_variant,p.Gln139Lys,ENST00000489711,;SLC15A2,intron_variant,,ENST00000295605,;SLC15A2,upstream_gene_variant,,ENST00000489886,;	803	67	78	SUCCESS
COL6A5	256076	.	GRCh37	3	130107781	130107781	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs990271650	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	101	0	ENST00000312481.7:c.2220G>A	p.Ala740=	p.A740=	ENST00000312481		740	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	.	2220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGCAGGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	6/42	.	.	.	.	.	.	.	.	.	6/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,synonymous_variant,p.%3D,ENST00000432398,;COL6A5,synonymous_variant,p.%3D,ENST00000265379,;COL6A5,synonymous_variant,p.%3D,ENST00000312481,;	2714	101	109	SUCCESS
EPHB1	2047	.	GRCh37	3	134670256	134670256	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	59	0	ENST00000398015.3:c.167G>A	p.Arg56His	p.R56H	ENST00000398015	NM_004441.4	56	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS46921.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCGCACCT	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Pfam_domain:PF01404,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000381097	.	3/16	.	.	.	.	.	.	.	.	COSM1566253,COSM728293,COSM48344,COSM728292,COSM1566252	3/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	possibly_damaging(0.751)	.	tolerated(0.34)	1,1,1,1,1	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,missense_variant,p.Arg34His,ENST00000474732,;EPHB1,missense_variant,p.Arg34His,ENST00000497173,;EPHB1,missense_variant,p.Arg34His,ENST00000460895,;EPHB1,missense_variant,p.Arg34His,ENST00000473867,;EPHB1,missense_variant,p.Arg56His,ENST00000398015,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488154,;EPHB1,missense_variant,p.Arg56His,ENST00000482618,;	537	59	62	SUCCESS
XRN1	54464	.	GRCh37	3	142103424	142103424	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141258147	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	93	0	ENST00000264951.4:c.2443C>T	p.Arg815Cys	p.R815C	ENST00000264951	NM_019001.3	815	Cgt/Tgt	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS3123.1	2443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGACGAACTT	NONE	byCluster	.	hmmpanther:PTHR12341:SF9,hmmpanther:PTHR12341,PIRSF_domain:PIRSF006743	.	A:0	ENSP00000264951	.	21/42	.	.	.	.	.	.	.	.	rs141258147	21/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.2)	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	SNV	XRN1,missense_variant,p.Arg281Cys,ENST00000498077,;XRN1,missense_variant,p.Arg815Cys,ENST00000392981,;XRN1,missense_variant,p.Arg815Cys,ENST00000264951,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;	2561	93	64	SUCCESS
MUC4	4585	.	GRCh37	3	195487851	195487851	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	14	74	0	ENST00000463781.3:c.14752T>A	p.Ser4918Thr	p.S4918T	ENST00000463781	NM_018406.6	4918	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54700.1	14752	RADIA|MUTECT|MUSE|VARSCANS	.	GCATGAGCTAT	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.483)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Ser4918Thr,ENST00000463781,;MUC4,missense_variant,p.Ser682Thr,ENST00000346145,;MUC4,missense_variant,p.Ser631Thr,ENST00000349607,;MUC4,missense_variant,p.Ser4866Thr,ENST00000475231,;MUC4,missense_variant,p.Ser4918Thr,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;	15212	74	117	SUCCESS
SCN10A	6336	.	GRCh37	3	38791656	38791656	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1559442319	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	54	1	ENST00000449082.2:c.1775A>G	p.Lys592Arg	p.K592R	ENST00000449082	NM_006514.2	592	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS33736.1	1775	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TCTTCTTTTGT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.64)	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Lys592Arg,ENST00000449082,;	1775	55	52	SUCCESS
GABRA4	2557	.	GRCh37	4	46976276	46976276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	72	0	ENST00000264318.3:c.694T>C	p.Ser232Pro	p.S232P	ENST00000264318	NM_000809.3	232	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS3473.1	694	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGATACGG	NONE	.	.	Prints_domain:PR01079,Superfamily_domains:0038932,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	.	.	ENSP00000264318	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000264318	Transcript	.	.	ENSG00000109158	4078	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	GBRA4_HUMAN	GABRA4	HGNC	.	.	UPI0000074200	SNV	GABRA4,missense_variant,p.Ser232Pro,ENST00000264318,;GABRA4,3_prime_UTR_variant,,ENST00000502874,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000508560,;	1677	72	74	SUCCESS
SLC6A19	340024	.	GRCh37	5	1219158	1219158	+	synonymous_variant	Silent	SNP	C	C	T	rs141604151	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	45	0	ENST00000304460.10:c.1314C>T	p.Gly438=	p.G438=	ENST00000304460	NM_001003841.2	438	ggC/ggT	0	T:0	.	.	.	.	T	G	protein_coding	YES	CCDS34130.1	1314	MUTECT|MUSE|VARSCANS	.	GAGGGCGTCGT	NONE	byCluster	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687	.	T:0.0002	ENSP00000305302	.	9/12	.	.	.	.	.	.	.	.	rs141604151	9/12	PASS	ENST00000304460	Transcript	1	.	ENSG00000174358	27960	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S6A19_HUMAN	SLC6A19	HGNC	B3KVZ8_HUMAN	.	UPI0000401AF8	SNV	SLC6A19,synonymous_variant,p.%3D,ENST00000304460,;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;	1370	45	81	SUCCESS
ANKH	56172	.	GRCh37	5	14749332	14749332	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	51	0	ENST00000284268.6:c.771T>G	p.Ile257Met	p.I257M	ENST00000284268	NM_054027.4	257	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3885.1	771	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACAATAGG	NONE	.	.	Pfam_domain:PF07260	.	.	ENSP00000284268	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000284268	Transcript	1	.	ENSG00000154122	15492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ANKH_HUMAN	ANKH	HGNC	B3KMG4_HUMAN	.	UPI000003F535	SNV	ANKH,missense_variant,p.Ile59Met,ENST00000535119,;ANKH,missense_variant,p.Ile257Met,ENST00000284268,;ANKH,non_coding_transcript_exon_variant,,ENST00000503939,;ANKH,non_coding_transcript_exon_variant,,ENST00000515517,;	1102	51	56	SUCCESS
TENM2	57451	.	GRCh37	5	167675304	167675304	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	8	71	1	ENST00000518659.1:c.7360C>T	p.Pro2454Ser	p.P2454S	ENST00000518659	NM_001122679.1	2454	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	.	7360	MUTECT|MUSE|VARSCANS	.	CGGCCCCCTTT	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,TIGRFAM_domain:TIGR03696	.	.	ENSP00000429430	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Pro2453Ser,ENST00000545108,;TENM2,missense_variant,p.Pro2215Ser,ENST00000520394,;TENM2,missense_variant,p.Pro2333Ser,ENST00000519204,;TENM2,missense_variant,p.Pro2454Ser,ENST00000518659,;TENM2,missense_variant,p.Pro2278Ser,ENST00000403607,;	7399	72	79	SUCCESS
MEF2C	4208	.	GRCh37	5	88027559	88027559	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766839744	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	57	0	ENST00000437473.2:c.797C>T	p.Thr266Met	p.T266M	ENST00000437473	NM_001193350.1	266	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS54878.1	851	MUTECT|MUSE	.	GCATCGTATTC	NONE	.	.	hmmpanther:PTHR11945:SF25,hmmpanther:PTHR11945	.	.	ENSP00000340874	.	9/12	.	.	.	.	.	.	.	.	rs766839744	9/12	PASS	ENST00000340208	Transcript	1	.	ENSG00000081189	6996	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.765)	.	tolerated(0.7)	.	MEF2C_HUMAN	MEF2C	HGNC	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG14_HUMAN	.	UPI0000D9B539	SNV	MEF2C,missense_variant,p.Thr266Met,ENST00000504921,;MEF2C,missense_variant,p.Thr266Met,ENST00000510942,;MEF2C,missense_variant,p.Thr266Met,ENST00000514028,;MEF2C,missense_variant,p.Thr266Met,ENST00000514015,;MEF2C,missense_variant,p.Thr266Met,ENST00000506554,;MEF2C,missense_variant,p.Thr284Met,ENST00000340208,;MEF2C,missense_variant,p.Thr264Met,ENST00000424173,;MEF2C,missense_variant,p.Thr266Met,ENST00000437473,;MEF2C,missense_variant,p.Thr266Met,ENST00000508569,;MEF2C,missense_variant,p.Thr218Met,ENST00000539796,;MEF2C,downstream_gene_variant,,ENST00000513252,;MEF2C,downstream_gene_variant,,ENST00000506716,;MEF2C,downstream_gene_variant,,ENST00000503554,;MEF2C,non_coding_transcript_exon_variant,,ENST00000515715,;MEF2C,upstream_gene_variant,,ENST00000510980,;	1257	57	59	SUCCESS
TMEM200A	114801	.	GRCh37	6	130761733	130761733	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1422589435	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	11	90	0	ENST00000296978.3:c.166C>T	p.Arg56Trp	p.R56W	ENST00000296978	NM_001258277.1	56	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS5140.1	166	MUTECT|MUSE|VARSCANS	.	AAATCCGGCTT	NONE	.	.	hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0,Pfam_domain:PF10177	.	.	ENSP00000376224	.	2/2	.	.	.	.	.	.	.	.	COSM3858231,COSM3858230	2/2	PASS	ENST00000392429	Transcript	.	.	ENSG00000164484	21075	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.993)	.	deleterious(0)	1,1	T200A_HUMAN	TMEM200A	HGNC	B4DG12_HUMAN,A8K2A1_HUMAN	.	UPI000000DA85	SNV	TMEM200A,missense_variant,p.Arg56Trp,ENST00000392429,;TMEM200A,missense_variant,p.Arg56Trp,ENST00000545622,;TMEM200A,missense_variant,p.Arg56Trp,ENST00000296978,;	2544	90	125	SUCCESS
RPS6KA2	6196	.	GRCh37	6	166912106	166912106	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1251863380	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	46	0	ENST00000265678.4:c.637G>A	p.Asp213Asn	p.D213N	ENST00000265678	NM_021135.4	213	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34570.1	661	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTCGTGGT	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000606,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25,PROSITE_profiles:PS50011	.	.	ENSP00000427015	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000503859	Transcript	.	.	ENSG00000071242	10431	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	tolerated(0.35)	.	KS6A2_HUMAN	RPS6KA2	HGNC	D6RHW7_HUMAN,D6RD75_HUMAN,D6R910_HUMAN,B7Z3B5_HUMAN	.	UPI000020D48C	SNV	RPS6KA2,missense_variant,p.Asp124Asn,ENST00000481261,;RPS6KA2,missense_variant,p.Asp124Asn,ENST00000507350,;RPS6KA2,missense_variant,p.Asp59Asn,ENST00000366863,;RPS6KA2,missense_variant,p.Asp124Asn,ENST00000405189,;RPS6KA2,missense_variant,p.Asp213Asn,ENST00000265678,;RPS6KA2,missense_variant,p.Asp221Asn,ENST00000503859,;RPS6KA2,missense_variant,p.Asp238Asn,ENST00000510118,;RPS6KA2,non_coding_transcript_exon_variant,,ENST00000366865,;	1042	46	54	SUCCESS
GPX5	2880	.	GRCh37	6	28501879	28501879	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780349667	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	11	68	1	ENST00000412168.2:c.601C>T	p.Arg201Trp	p.R201W	ENST00000412168	NM_001509.2	201	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4652.1	601	MUTECT|VARSCANS	.	CCCACCGGGCT	NONE	byFrequency	.	PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF9,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Superfamily_domains:SSF52833	.	.	ENSP00000392398	.	5/5	.	.	.	.	.	.	.	.	rs780349667	5/5	PASS	ENST00000412168	Transcript	.	.	ENSG00000224586	4557	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	deleterious(0.03)	.	GPX5_HUMAN	GPX5	HGNC	.	.	UPI0000031FD7	SNV	GPX5,missense_variant,p.Arg201Trp,ENST00000412168,;GPX5,downstream_gene_variant,,ENST00000469384,;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,downstream_gene_variant,,ENST00000483784,;	690	69	97	SUCCESS
SCUBE3	222663	.	GRCh37	6	35210863	35210863	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	70	1	ENST00000274938.7:c.1759C>A	p.Leu587Ile	p.L587I	ENST00000274938	NM_152753.2	587	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS4800.1	1759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCTCAGA	NONE	.	.	hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2	.	.	ENSP00000274938	.	15/22	.	.	.	.	.	.	.	.	COSM3625968,COSM3625969	15/22	PASS	ENST00000274938	Transcript	.	.	ENSG00000146197	13655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.656)	.	tolerated(0.09)	1,1	SCUB3_HUMAN	SCUBE3	HGNC	Q7Z3I8_HUMAN	.	UPI0000074423	SNV	SCUBE3,missense_variant,p.Leu603Ile,ENST00000394681,;SCUBE3,missense_variant,p.Leu587Ile,ENST00000274938,;	1759	71	79	SUCCESS
BAZ1B	9031	.	GRCh37	7	72891607	72891607	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	71	0	ENST00000339594.4:c.2184C>T	p.Phe728=	p.F728=	ENST00000339594	NM_032408.3	728	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS5549.1	2184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGGAACTC	NONE	.	.	hmmpanther:PTHR22880:SF60,hmmpanther:PTHR22880	.	.	ENSP00000342434	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000339594	Transcript	.	.	ENSG00000009954	961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAZ1B_HUMAN	BAZ1B	HGNC	.	.	UPI0000126731	SNV	BAZ1B,synonymous_variant,p.%3D,ENST00000404251,;BAZ1B,synonymous_variant,p.%3D,ENST00000339594,;	2523	71	73	SUCCESS
VPS13B	157680	.	GRCh37	8	100711796	100711796	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	7	70	0	ENST00000358544.2:c.6165G>T	p.Leu2055=	p.L2055=	ENST00000358544	NM_017890.4	2055	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6280.1	6165	MUTECT|MUSE	.	AACCTGAGTTT	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	36/62	.	.	.	.	.	.	.	.	.	36/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,synonymous_variant,p.%3D,ENST00000358544,;VPS13B,synonymous_variant,p.%3D,ENST00000357162,;VPS13B,3_prime_UTR_variant,,ENST00000395996,;AC018442.1,downstream_gene_variant,,ENST00000421439,;	6276	70	122	SUCCESS
EIF3E	3646	.	GRCh37	8	109240530	109240530	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	358	41	221	0	ENST00000220849.5:c.688G>C	p.Asp230His	p.D230H	ENST00000220849	NM_001568.2	230	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6308.1	688	RADIA|MUTECT|MUSE|VARSCANS	.	ATTATCGCGAC	NONE	.	.	HAMAP:MF_03004,hmmpanther:PTHR10317,PIRSF_domain:PIRSF016255	.	.	ENSP00000220849	.	7/13	.	.	.	.	.	.	.	.	COSM1094792	7/13	PASS	ENST00000220849	Transcript	.	.	ENSG00000104408	3277	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.992)	.	deleterious(0.03)	1	EIF3E_HUMAN	EIF3E	HGNC	E5RIT4_HUMAN,E5RGA2_HUMAN,B3KW56_HUMAN	.	UPI0000000C92	SNV	EIF3E,missense_variant,p.Asp137His,ENST00000519030,;EIF3E,missense_variant,p.Asp54His,ENST00000522352,;EIF3E,missense_variant,p.Asp230His,ENST00000220849,;EIF3E,missense_variant,p.Asp103His,ENST00000519627,;RP11-35G22.1,downstream_gene_variant,,ENST00000520037,;EIF3E,non_coding_transcript_exon_variant,,ENST00000519517,;EIF3E,upstream_gene_variant,,ENST00000519413,;EIF3E,3_prime_UTR_variant,,ENST00000522445,;EIF3E,non_coding_transcript_exon_variant,,ENST00000523646,;EIF3E,non_coding_transcript_exon_variant,,ENST00000521614,;	751	221	399	SUCCESS
TRPM3	80036	.	GRCh37	9	73477842	73477842	+	synonymous_variant	Silent	SNP	G	G	A	rs145250735	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	24	155	1	ENST00000377110.3:c.444C>T	p.Gly148=	p.G148=	ENST00000377110		148	ggC/ggT	0	T:0.0011	T:0.0008	.	T:0	.	A	G	protein_coding	YES	CCDS43835.1	444	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGGCCACC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	T:0	T:0	ENSP00000366314	T:0	3/25	.	.	.	.	.	.	.	.	rs145250735	3/25	PASS	ENST00000377110	Transcript	.	T:0.0002	ENSG00000083067	17992	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,synonymous_variant,p.%3D,ENST00000377111,;TRPM3,synonymous_variant,p.%3D,ENST00000423814,;TRPM3,synonymous_variant,p.%3D,ENST00000357533,;TRPM3,synonymous_variant,p.%3D,ENST00000377110,;TRPM3,5_prime_UTR_variant,,ENST00000377097,;TRPM3,5_prime_UTR_variant,,ENST00000377106,;TRPM3,5_prime_UTR_variant,,ENST00000361823,;TRPM3,5_prime_UTR_variant,,ENST00000377101,;TRPM3,5_prime_UTR_variant,,ENST00000360823,;TRPM3,5_prime_UTR_variant,,ENST00000396283,;TRPM3,5_prime_UTR_variant,,ENST00000377105,;TRPM3,upstream_gene_variant,,ENST00000358082,;TRPM3,upstream_gene_variant,,ENST00000396280,;TRPM3,upstream_gene_variant,,ENST00000396292,;TRPM3,upstream_gene_variant,,ENST00000408909,;TRPM3,upstream_gene_variant,,ENST00000396285,;TRPM3,non_coding_transcript_exon_variant,,ENST00000437699,;TRPM3,non_coding_transcript_exon_variant,,ENST00000354500,;	688	156	166	SUCCESS
FGFR2	2263	.	GRCh37	10	123276885	123276885	+	synonymous_variant	Silent	SNP	C	C	T	rs121918491	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	38	73	0	ENST00000358487.5:c.1032G>A	p.Ala344=	p.A344=	ENST00000358487	NM_000141.4	344	gcG/gcA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7620.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TTACCCGCCAA	NONE	.	.	.	.	.	ENSP00000410294	.	.	.	.	.	.	.	.	.	.	CS941488,rs121918491	.	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODIFIER	8/17	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	SNV	FGFR2,synonymous_variant,p.%3D,ENST00000336553,;FGFR2,synonymous_variant,p.%3D,ENST00000351936,;FGFR2,synonymous_variant,p.%3D,ENST00000346997,;FGFR2,synonymous_variant,p.%3D,ENST00000358487,;FGFR2,synonymous_variant,p.%3D,ENST00000356226,;FGFR2,synonymous_variant,p.%3D,ENST00000478859,;FGFR2,synonymous_variant,p.%3D,ENST00000357555,;FGFR2,intron_variant,,ENST00000369061,;FGFR2,intron_variant,,ENST00000360144,;FGFR2,intron_variant,,ENST00000369059,;FGFR2,intron_variant,,ENST00000369058,;FGFR2,intron_variant,,ENST00000369060,;FGFR2,intron_variant,,ENST00000369056,;FGFR2,intron_variant,,ENST00000457416,;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,non_coding_transcript_exon_variant,,ENST00000463870,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,3_prime_UTR_variant,,ENST00000604236,;	.	73	41	SUCCESS
VIM	7431	.	GRCh37	10	17277885	17277885	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	54	102	0	ENST00000224237.5:c.1270A>T	p.Arg424Trp	p.R424W	ENST00000224237		424	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS7120.1	1270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGAGGGGT	NONE	.	.	hmmpanther:PTHR23239:SF27,hmmpanther:PTHR23239	.	.	ENSP00000446007	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,missense_variant,p.Arg424Trp,ENST00000224237,;VIM,missense_variant,p.Arg424Trp,ENST00000544301,;VIM,downstream_gene_variant,,ENST00000421459,;RP11-124N14.3,upstream_gene_variant,,ENST00000456355,;VIM,downstream_gene_variant,,ENST00000485947,;VIM,downstream_gene_variant,,ENST00000495528,;VIM,missense_variant,p.Arg424Trp,ENST00000487938,;VIM,3_prime_UTR_variant,,ENST00000469543,;	1683	103	123	SUCCESS
SVIL	6840	.	GRCh37	10	29812533	29812533	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374116755	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	47	99	0	ENST00000355867.4:c.3010G>A	p.Ala1004Thr	p.A1004T	ENST00000355867	NM_021738.2	1004	Gcg/Acg	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS7164.1	3010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGCCCGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28	.	T:0.0001	ENSP00000364547	.	17/40	.	.	.	.	.	.	.	.	rs374116755	17/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.6)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Ala1004Thr,ENST00000355867,;SVIL,missense_variant,p.Ala578Thr,ENST00000375400,;SVIL,missense_variant,p.Ala1004Thr,ENST00000375398,;SVIL,upstream_gene_variant,,ENST00000535393,;SVIL,upstream_gene_variant,,ENST00000464984,;	3460	99	91	SUCCESS
CHST3	9469	.	GRCh37	10	73768075	73768075	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1272861569	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	61	0	ENST00000373115.4:c.1286G>A	p.Arg429His	p.R429H	ENST00000373115	NM_004273.4	429	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS7312.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGCTTCA	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF005883,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,missense_variant,p.Arg429His,ENST00000373115,;	1723	61	73	SUCCESS
OR5I1	10798	.	GRCh37	11	55703708	55703708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	68	121	1	ENST00000301532.3:c.169C>T	p.Leu57Phe	p.L57F	ENST00000301532	NM_006637.1	57	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7949.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGGTGAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000301532	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301532	Transcript	.	.	ENSG00000167825	8347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	OR5I1_HUMAN	OR5I1	HGNC	.	.	UPI00000405D5	SNV	OR5I1,missense_variant,p.Leu57Phe,ENST00000301532,;	169	122	142	SUCCESS
OR5I1	10798	.	GRCh37	11	55703709	55703709	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	69	122	1	ENST00000301532.3:c.168C>A	p.His56Gln	p.H56Q	ENST00000301532	NM_006637.1	56	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS7949.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTGAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000301532	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301532	Transcript	.	.	ENSG00000167825	8347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.51)	.	OR5I1_HUMAN	OR5I1	HGNC	.	.	UPI00000405D5	SNV	OR5I1,missense_variant,p.His56Gln,ENST00000301532,;	168	123	146	SUCCESS
CD6	923	.	GRCh37	11	60774061	60774061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766424297	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	43	0	ENST00000313421.7:c.65C>T	p.Ala22Val	p.A22V	ENST00000313421	NM_006725.4	22	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7999.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCCCCAC	NONE	.	.	.	.	.	ENSP00000323280	.	2/13	.	.	.	.	.	.	.	.	rs766424297	2/13	PASS	ENST00000313421	Transcript	.	.	ENSG00000013725	1691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.07)	.	CD6_HUMAN	CD6	HGNC	.	.	UPI000013F532	SNV	CD6,missense_variant,p.Ala22Val,ENST00000346437,;CD6,missense_variant,p.Ala22Val,ENST00000452451,;CD6,missense_variant,p.Ala22Val,ENST00000313421,;CD6,missense_variant,p.Ala22Val,ENST00000344028,;CD6,missense_variant,p.Ala22Val,ENST00000433107,;CD6,missense_variant,p.Ala22Val,ENST00000542157,;CD6,missense_variant,p.Ala22Val,ENST00000352009,;CD6,upstream_gene_variant,,ENST00000538611,;CD6,non_coding_transcript_exon_variant,,ENST00000538288,;CD6,non_coding_transcript_exon_variant,,ENST00000545105,;CD6,missense_variant,p.Ala22Val,ENST00000344931,;CD6,3_prime_UTR_variant,,ENST00000542254,;CD6,upstream_gene_variant,,ENST00000541964,;	251	43	34	SUCCESS
SCGB2A2	4250	.	GRCh37	11	62038372	62038372	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	60	0	ENST00000227918.2:c.75G>A	p.Leu25=	p.L25=	ENST00000227918	NM_002411.2	25	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8018.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTGGAGAA	NONE	.	.	Superfamily_domains:SSF48201,Gene3D:1utgA00,Pfam_domain:PF01099,hmmpanther:PTHR14037,hmmpanther:PTHR14037:SF5,PROSITE_profiles:PS51311	.	.	ENSP00000227918	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000227918	Transcript	.	.	ENSG00000110484	7050	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SG2A2_HUMAN	SCGB2A2	HGNC	.	.	UPI0000035993	SNV	SCGB2A2,synonymous_variant,p.%3D,ENST00000525380,;SCGB2A2,synonymous_variant,p.%3D,ENST00000227918,;	137	60	85	SUCCESS
LRTM2	654429	.	GRCh37	12	1943454	1943454	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777755623	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	26	0	ENST00000299194.1:c.680C>T	p.Ala227Val	p.A227V	ENST00000299194		227	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31726.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGCCTGCA	NONE	.	.	hmmpanther:PTHR24373:SF103,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000446278	.	5/5	.	.	.	.	.	.	.	.	rs777755623	5/5	PASS	ENST00000543818	Transcript	.	.	ENSG00000166159	32443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.28)	.	LRTM2_HUMAN	LRTM2	HGNC	F5H2B4_HUMAN,F5GZY9_HUMAN	.	UPI00000714D3	SNV	LRTM2,missense_variant,p.Ala227Val,ENST00000535041,;LRTM2,missense_variant,p.Ala227Val,ENST00000543818,;LRTM2,missense_variant,p.Ala227Val,ENST00000299194,;CACNA2D4,intron_variant,,ENST00000585732,;CACNA2D4,intron_variant,,ENST00000587995,;CACNA2D4,intron_variant,,ENST00000586184,;CACNA2D4,intron_variant,,ENST00000382722,;CACNA2D4,intron_variant,,ENST00000588077,;CACNA2D4,intron_variant,,ENST00000585708,;LRTM2,downstream_gene_variant,,ENST00000546167,;LRTM2,downstream_gene_variant,,ENST00000543694,;LRTM2,non_coding_transcript_exon_variant,,ENST00000543730,;LRTM2,downstream_gene_variant,,ENST00000546157,;LRTM2,downstream_gene_variant,,ENST00000540378,;LRTM2,downstream_gene_variant,,ENST00000544489,;CACNA2D4,intron_variant,,ENST00000444595,;CACNA2D4,intron_variant,,ENST00000280663,;CACNA2D4,intron_variant,,ENST00000537784,;	1522	26	30	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19436617	19436617	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752239578	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	70	0	ENST00000299275.6:c.1699T>C	p.Ser567Pro	p.S567P	ENST00000299275	NM_019012.5	567	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS58213.1	1717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTCTTCA	NONE	.	.	hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752	.	.	ENSP00000404296	.	12/32	.	.	.	.	.	.	.	.	rs752239578	12/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.07)	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,missense_variant,p.Ser459Pro,ENST00000424268,;PLEKHA5,missense_variant,p.Ser567Pro,ENST00000317589,;PLEKHA5,missense_variant,p.Ser459Pro,ENST00000543806,;PLEKHA5,missense_variant,p.Ser573Pro,ENST00000429027,;PLEKHA5,missense_variant,p.Ser567Pro,ENST00000538714,;PLEKHA5,missense_variant,p.Ser325Pro,ENST00000539256,;PLEKHA5,missense_variant,p.Ser459Pro,ENST00000536974,;PLEKHA5,missense_variant,p.Ser567Pro,ENST00000299275,;PLEKHA5,missense_variant,p.Ser567Pro,ENST00000355397,;PLEKHA5,missense_variant,p.Ser567Pro,ENST00000309364,;PLEKHA5,missense_variant,p.Ser567Pro,ENST00000359180,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;PLEKHA5,missense_variant,p.Ser17Pro,ENST00000538677,;	1749	70	74	SUCCESS
SUOX	6821	.	GRCh37	12	56397423	56397423	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776955991	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	91	0	ENST00000266971.3:c.250A>G	p.Ile84Val	p.I84V	ENST00000266971	NM_001032386.1	84	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8901.2	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACATATAC	NONE	byFrequency	.	PROSITE_profiles:PS50255,hmmpanther:PTHR19372:SF2,hmmpanther:PTHR19372,Gene3D:3.10.120.10,Superfamily_domains:SSF55856	.	.	ENSP00000377668	.	3/3	.	.	.	.	.	.	.	.	rs776955991	3/3	PASS	ENST00000394109	Transcript	.	.	ENSG00000139531	11460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	SUOX_HUMAN	SUOX	HGNC	F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN	.	UPI00001FC4A1	SNV	SUOX,missense_variant,p.Ile84Val,ENST00000394115,;SUOX,missense_variant,p.Ile84Val,ENST00000356124,;SUOX,missense_variant,p.Ile84Val,ENST00000546833,;SUOX,missense_variant,p.Ile84Val,ENST00000552258,;SUOX,missense_variant,p.Ile84Val,ENST00000266971,;SUOX,missense_variant,p.Ile84Val,ENST00000548274,;SUOX,missense_variant,p.Ile84Val,ENST00000551841,;SUOX,missense_variant,p.Ile84Val,ENST00000394109,;IKZF4,upstream_gene_variant,,ENST00000262032,;SUOX,downstream_gene_variant,,ENST00000547586,;SUOX,non_coding_transcript_exon_variant,,ENST00000550478,;SUOX,non_coding_transcript_exon_variant,,ENST00000551698,;SUOX,non_coding_transcript_exon_variant,,ENST00000552363,;SUOX,non_coding_transcript_exon_variant,,ENST00000550340,;SUOX,downstream_gene_variant,,ENST00000550121,;IKZF4,upstream_gene_variant,,ENST00000548601,;SUOX,missense_variant,p.Ile84Val,ENST00000550065,;SUOX,non_coding_transcript_exon_variant,,ENST00000546712,;SUOX,downstream_gene_variant,,ENST00000552813,;	974	91	67	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85521764	85521764	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1283825943	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	129	236	0	ENST00000393217.2:c.4162A>G	p.Ile1388Val	p.I1388V	ENST00000393217	NM_001079910.1	1388	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41816.1	4162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATATTGTG	NONE	.	.	.	.	.	ENSP00000376910	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.61)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Ile1388Val,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000525971,;	4223	237	270	SUCCESS
HSPH1	10808	.	GRCh37	13	31715296	31715296	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	48	90	0	ENST00000320027.5:c.1817T>G	p.Leu606Ter	p.L606*	ENST00000320027	NM_006644.2	606	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS9340.1	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTAACTGC	NONE	.	.	hmmpanther:PTHR19375:SF18,hmmpanther:PTHR19375,Pfam_domain:PF00012,Superfamily_domains:SSF100920	.	.	ENSP00000318687	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000320027	Transcript	.	.	ENSG00000120694	16969	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS105_HUMAN	HSPH1	HGNC	.	.	UPI0000001C62	SNV	HSPH1,stop_gained,p.Leu565Ter,ENST00000380406,;HSPH1,stop_gained,p.Leu608Ter,ENST00000445273,;HSPH1,stop_gained,p.Leu425Ter,ENST00000429785,;HSPH1,stop_gained,p.Leu606Ter,ENST00000320027,;HSPH1,stop_gained,p.Leu562Ter,ENST00000380405,;HSPH1,upstream_gene_variant,,ENST00000435381,;HSPH1,3_prime_UTR_variant,,ENST00000602786,;HSPH1,upstream_gene_variant,,ENST00000469538,;	2162	90	99	SUCCESS
NBEA	26960	.	GRCh37	13	35806707	35806707	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	63	115	0	ENST00000400445.3:c.5727C>T	p.Phe1909=	p.F1909=	ENST00000400445	NM_015678.4	1909	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS45026.1	5727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCCTATC	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	34/58	.	.	.	.	.	.	.	.	.	34/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,synonymous_variant,p.%3D,ENST00000400445,;NBEA,synonymous_variant,p.%3D,ENST00000540320,;NBEA,synonymous_variant,p.%3D,ENST00000310336,;NBEA,synonymous_variant,p.%3D,ENST00000379939,;	6261	115	139	SUCCESS
RB1	5925	.	GRCh37	13	48951053	48951053	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs587778831	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	48	99	0	ENST00000267163.4:c.1216-1G>A		p.X406_splice	ENST00000267163	NM_000321.2	406		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31973.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CTAAAGAACTG	BUFFER|p.?|c.1216-2A>G|3	.	.	.	.	.	ENSP00000267163	.	.	.	.	.	.	.	.	.	.	CS971888,rs587778831,COSM69449,COSM3399395	.	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	12/26	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	0,0,1,1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,splice_acceptor_variant,,ENST00000267163,;	.	99	55	SUCCESS
SLITRK6	84189	.	GRCh37	13	86370519	86370519	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	57	123	0	ENST00000400286.2:c.125G>C	p.Gly42Ala	p.G42A	ENST00000400286	NM_032229.2	42	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS41903.1	125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGCCATCT	NONE	.	.	hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	tolerated(0.05)	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	SNV	SLITRK6,missense_variant,p.Gly42Ala,ENST00000400286,;	724	123	69	SUCCESS
BTBD6	90135	.	GRCh37	14	105716721	105716721	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	71	0	ENST00000392554.3:c.1170G>T	p.Glu390Asp	p.E390D	ENST00000392554		390	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS10002.2	1170	MUTECT|MUSE	.	ATTGAGCTCAA	NONE	.	.	hmmpanther:PTHR24413:SF4,hmmpanther:PTHR24413,Pfam_domain:PF08005	.	.	ENSP00000376337	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392554	Transcript	.	.	ENSG00000184887	19897	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	BTBD6_HUMAN	BTBD6	HGNC	F8VPC8_HUMAN	.	UPI00001FDD27	SNV	BTBD6,missense_variant,p.Glu390Asp,ENST00000536364,;BTBD6,missense_variant,p.Glu390Asp,ENST00000392554,;BTBD6,missense_variant,p.Glu390Asp,ENST00000537513,;BTBD6,missense_variant,p.Glu315Asp,ENST00000327471,;BTBD6,missense_variant,p.Glu315Asp,ENST00000463376,;BRF1,intron_variant,,ENST00000379937,;BRF1,intron_variant,,ENST00000546417,;BRF1,intron_variant,,ENST00000546474,;BRF1,intron_variant,,ENST00000327359,;BRF1,intron_variant,,ENST00000440513,;BRF1,upstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000550375,;BRF1,downstream_gene_variant,,ENST00000550692,;BRF1,upstream_gene_variant,,ENST00000552127,;BRF1,upstream_gene_variant,,ENST00000392557,;BRF1,upstream_gene_variant,,ENST00000446501,;BRF1,upstream_gene_variant,,ENST00000551787,;BRF1,upstream_gene_variant,,ENST00000379932,;BTBD6,downstream_gene_variant,,ENST00000392553,;	1467	71	49	SUCCESS
RNASE1	6035	.	GRCh37	14	21270068	21270068	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	46	0	ENST00000340900.3:c.160T>C	p.Cys54Arg	p.C54R	ENST00000340900	NM_198234.2	54	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS9559.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACAGTAGG	NONE	.	.	hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF24,Pfam_domain:PF00074,Gene3D:3.10.130.10,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794	.	.	ENSP00000381057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397967	Transcript	.	.	ENSG00000129538	10044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	RNAS1_HUMAN	RNASE1	HGNC	G3V357_HUMAN	.	UPI000013448E	SNV	RNASE1,missense_variant,p.Cys54Arg,ENST00000340900,;RNASE1,missense_variant,p.Cys54Arg,ENST00000397970,;RNASE1,missense_variant,p.Cys54Arg,ENST00000412779,;RNASE1,missense_variant,p.Cys54Arg,ENST00000397967,;RNASE1,missense_variant,p.Cys14Arg,ENST00000555698,;	667	46	50	SUCCESS
GPHN	10243	.	GRCh37	14	67147861	67147861	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530173903	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	44	88	0	ENST00000315266.5:c.101G>A	p.Arg34His	p.R34H	ENST00000315266	NM_001024218.1	34	cGc/cAc	0	.	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS9777.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGCAGTG	NONE	by1000G	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF00994,Gene3D:3.40.980.10,TIGRFAM_domain:TIGR00177,SMART_domains:SM00852,Superfamily_domains:SSF53218	A:0	.	ENSP00000417901	A:0	2/23	.	.	.	.	.	.	.	.	rs530173903,COSM272733	2/23	PASS	ENST00000478722	Transcript	.	A:0.0002	ENSG00000171723	15465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.977)	A:0	deleterious(0.03)	0,1	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,missense_variant,p.Arg34His,ENST00000459628,;GPHN,missense_variant,p.Arg34His,ENST00000543237,;GPHN,missense_variant,p.Arg34His,ENST00000305960,;GPHN,missense_variant,p.Arg34His,ENST00000315266,;GPHN,missense_variant,p.Arg34His,ENST00000478722,;GPHN,non_coding_transcript_exon_variant,,ENST00000556020,;GPHN,missense_variant,p.Arg34His,ENST00000555668,;GPHN,missense_variant,p.Arg34His,ENST00000556633,;GPHN,missense_variant,p.Arg34His,ENST00000557654,;GPHN,3_prime_UTR_variant,,ENST00000553936,;	1222	88	85	SUCCESS
FAM189A1	23359	.	GRCh37	15	29429365	29429365	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	27	48	0	ENST00000261275.4:c.663C>T	p.Pro221=	p.P221=	ENST00000261275	NM_015307.1	221	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS45198.1	663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGGGGTT	NONE	.	.	hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6	.	.	ENSP00000261275	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000261275	Transcript	.	.	ENSG00000104059	29075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1891_HUMAN	FAM189A1	HGNC	H0YKM1_HUMAN	.	UPI0001641C10	SNV	FAM189A1,synonymous_variant,p.%3D,ENST00000261275,;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	663	48	41	SUCCESS
MGA	23269	.	GRCh37	15	42052603	42052603	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	72	121	0	ENST00000219905.7:c.7274G>A	p.Arg2425His	p.R2425H	ENST00000219905	NM_001164273.1	2425	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS55959.1	7274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCGCCGGA	NONE	.	.	Superfamily_domains:SSF47459,Pfam_domain:PF00010,Gene3D:4.10.280.10,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32,PROSITE_profiles:PS50888,Low_complexity_(Seg):seg	.	.	ENSP00000219905	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,missense_variant,p.Arg1073His,ENST00000564190,;MGA,missense_variant,p.Arg2425His,ENST00000219905,;MGA,missense_variant,p.Arg2425His,ENST00000570161,;MGA,missense_variant,p.Arg2216His,ENST00000545763,;MGA,missense_variant,p.Arg2386His,ENST00000389936,;MGA,missense_variant,p.Arg2216His,ENST00000566586,;MGA,non_coding_transcript_exon_variant,,ENST00000568255,;	7455	121	114	SUCCESS
MMP15	4324	.	GRCh37	16	58074513	58074513	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147717123	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	22	67	0	ENST00000219271.3:c.821A>G	p.Asn274Ser	p.N274S	ENST00000219271	NM_002428.2	274	aAt/aGt	0	G:0.0009	G:0.0008	.	G:0	.	G	N/S	protein_coding	YES	CCDS10792.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAATGCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10201:SF25,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF55486,Prints_domain:PR00138	G:0	G:0	ENSP00000219271	G:0	5/10	.	.	.	.	.	.	.	.	rs147717123	5/10	PASS	ENST00000219271	Transcript	.	G:0.0002	ENSG00000102996	7161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	G:0	tolerated(1)	.	MMP15_HUMAN	MMP15	HGNC	.	.	UPI000003DC75	SNV	MMP15,missense_variant,p.Asn31Ser,ENST00000570065,;MMP15,missense_variant,p.Asn274Ser,ENST00000219271,;	1606	67	29	SUCCESS
SEZ6	124925	.	GRCh37	17	27309008	27309008	+	synonymous_variant	Silent	SNP	G	G	T	rs371133854	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	27	0	ENST00000317338.12:c.105C>A	p.Ile35=	p.I35=	ENST00000317338		35	atC/atA	0	A:0	.	.	.	.	T	I	protein_coding	YES	CCDS45639.1	105	RADIA|MUSE	.	TCCTCGATGCC	NONE	byCluster	.	.	.	A:0.0001	ENSP00000312942	.	2/17	.	.	.	.	.	.	.	.	rs371133854	2/17	PASS	ENST00000317338	Transcript	.	.	ENSG00000063015	15955	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEZ6_HUMAN	SEZ6	HGNC	K7ELJ4_HUMAN	.	UPI0000049D91	SNV	SEZ6,synonymous_variant,p.%3D,ENST00000317338,;SEZ6,synonymous_variant,p.%3D,ENST00000360295,;SEZ6,synonymous_variant,p.%3D,ENST00000335960,;SEZ6,synonymous_variant,p.%3D,ENST00000442608,;SEZ6,5_prime_UTR_variant,,ENST00000585644,;SEZ6,upstream_gene_variant,,ENST00000540632,;PIPOX,intron_variant,,ENST00000578748,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,intron_variant,,ENST00000580383,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000577182,;SEZ6,upstream_gene_variant,,ENST00000540419,;	534	27	33	SUCCESS
KRT38	8687	.	GRCh37	17	39595474	39595474	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	48	0	ENST00000246646.3:c.713T>A	p.Leu238His	p.L238H	ENST00000246646	NM_006771.3	238	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11392.1	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGGGAG	BUFFER|p.Q235*|c.703C>T|8	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148,Pfam_domain:PF00038	.	.	ENSP00000246646	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,missense_variant,p.Leu238His,ENST00000246646,;	713	48	25	SUCCESS
CHD3	1107	.	GRCh37	17	7798720	7798720	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	29	84	0	ENST00000330494.7:c.1567G>A	p.Ala523Thr	p.A523T	ENST00000330494	NM_001005273.2	523	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32553.2	1744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAGCAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF544,Gene3D:2.40.50.40,SMART_domains:SM00298	.	.	ENSP00000369716	.	10/40	.	.	.	.	.	.	.	.	.	10/40	PASS	ENST00000380358	Transcript	.	.	ENSG00000170004	1918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	.	.	CHD3_HUMAN	CHD3	HGNC	Q2TAZ1_HUMAN	.	UPI00004DDA7C	SNV	CHD3,missense_variant,p.Ala582Thr,ENST00000380358,;CHD3,missense_variant,p.Ala523Thr,ENST00000358181,;CHD3,missense_variant,p.Ala523Thr,ENST00000330494,;CHD3,missense_variant,p.Ala394Thr,ENST00000452447,;CHD3,downstream_gene_variant,,ENST00000571249,;CHD3,downstream_gene_variant,,ENST00000574022,;CHD3,downstream_gene_variant,,ENST00000570758,;CHD3,non_coding_transcript_exon_variant,,ENST00000479080,;CHD3,downstream_gene_variant,,ENST00000572579,;	1745	84	56	SUCCESS
ZBTB14	7541	.	GRCh37	18	5290910	5290910	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	65	0	ENST00000357006.4:c.1297del	p.Ala433GlnfsTer14	p.A433Qfs*14	ENST00000357006	NM_001143823.2	433	Gca/ca	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS11837.1	1297	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGCTGCCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF47	.	.	ENSP00000349503	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357006	Transcript	.	.	ENSG00000198081	12860	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBT14_HUMAN	ZBTB14	HGNC	J3QLI2_HUMAN,J3QL74_HUMAN,J3KRQ2_HUMAN	.	UPI0000163BCB	deletion	ZBTB14,frameshift_variant,p.Ala433GlnfsTer14,ENST00000357006,;ZBTB14,frameshift_variant,p.Ala433GlnfsTer14,ENST00000400143,;ZBTB14,downstream_gene_variant,,ENST00000582135,;ZBTB14,downstream_gene_variant,,ENST00000582388,;ZBTB14,downstream_gene_variant,,ENST00000578327,;ZBTB14,downstream_gene_variant,,ENST00000585253,;	1636	65	62	SUCCESS
EPB41L3	23136	.	GRCh37	18	5419718	5419718	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs757135327	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	42	0	ENST00000341928.2:c.1498G>T	p.Glu500Ter	p.E500*	ENST00000341928	NM_012307.3	500	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11838.1	1498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTCGTGCC	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,PIRSF_domain:PIRSF002304	.	.	ENSP00000343158	.	12/23	.	.	.	.	.	.	.	.	rs757135327,COSM1251253	12/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,stop_gained,p.Glu500Ter,ENST00000342933,;EPB41L3,stop_gained,p.Glu500Ter,ENST00000341928,;EPB41L3,stop_gained,p.Glu518Ter,ENST00000400111,;EPB41L3,stop_gained,p.Glu518Ter,ENST00000544123,;EPB41L3,stop_gained,p.Glu518Ter,ENST00000540638,;EPB41L3,5_prime_UTR_variant,,ENST00000427684,;EPB41L3,5_prime_UTR_variant,,ENST00000542146,;EPB41L3,downstream_gene_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578524,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578196,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580316,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581661,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581292,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581387,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578395,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580647,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000579271,;EPB41L3,upstream_gene_variant,,ENST00000582729,;	1839	42	36	SUCCESS
CDC37	11140	.	GRCh37	19	10506763	10506763	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	74	0	ENST00000222005.2:c.219G>A	p.Val73=	p.V73=	ENST00000222005	NM_007065.3	73	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12237.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCCACCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12800,hmmpanther:PTHR12800:SF3,Pfam_domain:PF03234,SMART_domains:SM01071	.	.	ENSP00000222005	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000222005	Transcript	.	.	ENSG00000105401	1735	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDC37_HUMAN	CDC37	HGNC	.	.	UPI000012723D	SNV	CDC37,synonymous_variant,p.%3D,ENST00000589629,;CDC37,synonymous_variant,p.%3D,ENST00000222005,;CDC37,synonymous_variant,p.%3D,ENST00000593124,;CDC37,upstream_gene_variant,,ENST00000589331,;CDC37,upstream_gene_variant,,ENST00000589625,;CDC37,3_prime_UTR_variant,,ENST00000588869,;CDC37,non_coding_transcript_exon_variant,,ENST00000591248,;CDC37,upstream_gene_variant,,ENST00000589755,;CDC37,upstream_gene_variant,,ENST00000590632,;CDC37,upstream_gene_variant,,ENST00000588498,;	273	74	77	SUCCESS
SMARCA4	6597	.	GRCh37	19	11132515	11132515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	48	0	ENST00000344626.4:c.2731G>A	p.Gly911Ser	p.G911S	ENST00000344626	NM_003072.3	911	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS12253.1	2731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGGGCACA	CODON|p.T910M|c.2729C>T|13,CODON|p.T910M|c.2729C>T|7	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF00176,Gene3D:3.40.50.300,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51192	.	.	ENSP00000395654	.	20/36	.	.	.	.	.	.	.	.	.	20/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Gly911Ser,ENST00000450717,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000358026,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000413806,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000590574,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000444061,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000344626,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000541122,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000429416,;SMARCA4,missense_variant,p.Gly911Ser,ENST00000589677,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000587988,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;	3012	48	53	SUCCESS
ELAVL3	1995	.	GRCh37	19	11577461	11577461	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	64	0	ENST00000359227.3:c.191A>G	p.Asp64Gly	p.D64G	ENST00000359227	NM_001420.3	64	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS32912.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGTCGCCA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF250,TIGRFAM_domain:TIGR01661,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000352162	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000359227	Transcript	.	.	ENSG00000196361	3314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.01)	.	ELAV3_HUMAN	ELAVL3	HGNC	Q96J71_HUMAN	.	UPI0000129E75	SNV	ELAVL3,missense_variant,p.Asp64Gly,ENST00000588853,;ELAVL3,missense_variant,p.Asp64Gly,ENST00000438662,;ELAVL3,missense_variant,p.Asp64Gly,ENST00000359227,;RN7SL669P,upstream_gene_variant,,ENST00000581926,;CTC-398G3.6,3_prime_UTR_variant,,ENST00000585656,;	616	64	81	SUCCESS
OR10H4	126541	.	GRCh37	19	16059854	16059854	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	67	0	ENST00000322107.1:c.37A>T	p.Asn13Tyr	p.N13Y	ENST00000322107	NM_001004465.1	13	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS32941.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTAACCTC	NONE	.	.	hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF78,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000318834	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322107	Transcript	.	.	ENSG00000176231	15388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0)	.	O10H4_HUMAN	OR10H4	HGNC	.	.	UPI0000046194	SNV	OR10H4,missense_variant,p.Asn13Tyr,ENST00000322107,;	37	67	77	SUCCESS
CPAMD8	27151	.	GRCh37	19	17091417	17091417	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764946021	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	84	0	ENST00000443236.1:c.1616G>A	p.Gly539Asp	p.G539D	ENST00000443236	NM_015692.2	539	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS42519.1	1616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGCCCCGT	NONE	byFrequency	.	hmmpanther:PTHR11412:SF76,hmmpanther:PTHR11412,Pfam_domain:PF07703	.	.	ENSP00000402505	.	14/42	.	.	.	.	.	.	.	.	rs764946021,COSM1524460	14/42	PASS	ENST00000443236	Transcript	.	.	ENSG00000160111	23228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	CPMD8_HUMAN	CPAMD8	HGNC	.	.	UPI0000E8AC99	SNV	CPAMD8,missense_variant,p.Gly539Asp,ENST00000443236,;CPAMD8,intron_variant,,ENST00000388925,;CPAMD8,upstream_gene_variant,,ENST00000593420,;CPAMD8,intron_variant,,ENST00000291440,;	1648	84	83	SUCCESS
ZNF30	90075	.	GRCh37	19	35435350	35435350	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769672268	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	74	0	ENST00000601142.1:c.1480A>G	p.Ser494Gly	p.S494G	ENST00000601142		494	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS46044.1	1483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTAGTCGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000403441	.	5/5	.	.	.	.	.	.	.	.	rs769672268	5/5	PASS	ENST00000439785	Transcript	.	.	ENSG00000168661	13090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.388)	.	tolerated(0.13)	.	ZNF30_HUMAN	ZNF30	HGNC	.	.	UPI0001596897	SNV	ZNF30,missense_variant,p.Ser495Gly,ENST00000439785,;ZNF30,missense_variant,p.Ser413Gly,ENST00000426813,;ZNF30,missense_variant,p.Ser495Gly,ENST00000303586,;ZNF30,missense_variant,p.Ser494Gly,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;	1927	74	59	SUCCESS
NLRP9	338321	.	GRCh37	19	56223263	56223263	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	43	62	0	ENST00000332836.2:c.2746A>T	p.Arg916Trp	p.R916W	ENST00000332836	NM_176820.2	916	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12934.1	2746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCAGTG	NONE	.	.	hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000331857	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000332836	Transcript	.	.	ENSG00000185792	22941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	deleterious(0.01)	.	NALP9_HUMAN	NLRP9	HGNC	.	.	UPI00001B6B39	SNV	NLRP9,missense_variant,p.Arg916Trp,ENST00000590200,;NLRP9,missense_variant,p.Arg916Trp,ENST00000332836,;EPN1,downstream_gene_variant,,ENST00000589704,;CTD-2611O12.8,downstream_gene_variant,,ENST00000596293,;CTD-2611O12.7,downstream_gene_variant,,ENST00000597680,;CTD-2611O12.6,downstream_gene_variant,,ENST00000600582,;CTD-2611O12.6,downstream_gene_variant,,ENST00000596381,;CTD-2611O12.6,downstream_gene_variant,,ENST00000597650,;	2774	62	72	SUCCESS
KPRP	448834	.	GRCh37	1	152733320	152733320	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs75424193	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	60	113	0	ENST00000606109.1:c.1256G>A	p.Arg419His	p.R419H	ENST00000606109		419	cGc/cAc	0	A:0.0157	A:0.0371	.	A:0.0029	.	A	R/H	protein_coding	YES	CCDS30862.1	1256	RADIA|MUSE	.	ACCACGCCCGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	A:0.001	A:0	ENSP00000357762	A:0	2/2	.	.	.	.	.	.	.	.	rs75424193	2/2	common_in_exac	ENST00000368773	Transcript	.	A:0.0104	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.923)	A:0	tolerated(0.22)	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Arg419His,ENST00000368773,;KPRP,missense_variant,p.Arg419His,ENST00000606109,;	1314	113	133	SUCCESS
OR10R2	343406	.	GRCh37	1	158449817	158449817	+	synonymous_variant	Silent	SNP	T	T	A	rs373275320	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	95	1	ENST00000368152.1:c.150T>A	p.Val50=	p.V50=	ENST00000368152	NM_001004472.1	50	gtT/gtA	0	C:0	.	.	.	.	A	V	protein_coding	YES	CCDS30898.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTTTTTCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF42,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	C:0.0001	ENSP00000357134	.	1/1	.	.	.	.	.	.	.	.	rs373275320	1/1	PASS	ENST00000368152	Transcript	.	.	ENSG00000198965	14820	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10R2_HUMAN	OR10R2	HGNC	.	.	UPI000004CA1C	SNV	OR10R2,synonymous_variant,p.%3D,ENST00000368152,;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	150	97	139	SUCCESS
TOR1AIP2	163590	.	GRCh37	1	179815558	179815558	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775176340	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	48	0	ENST00000367612.3:c.1061G>A	p.Gly354Glu	p.G354E	ENST00000367612	NM_145034.4	354	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS1334.1	1061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACCCATAG	NONE	.	.	Pfam_domain:PF05609,hmmpanther:PTHR18843:SF2,hmmpanther:PTHR18843	.	.	ENSP00000356584	.	6/6	.	.	.	.	.	.	.	.	rs775176340	6/6	PASS	ENST00000367612	Transcript	.	.	ENSG00000169905	24055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.03)	.	TOIP2_HUMAN	TOR1AIP2	HGNC	.	.	UPI00000711A4	SNV	TOR1AIP2,missense_variant,p.Gly354Glu,ENST00000609928,;TOR1AIP2,missense_variant,p.Gly354Glu,ENST00000367612,;	1449	48	73	SUCCESS
UBR4	23352	.	GRCh37	1	19478351	19478351	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs144919897	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	30	89	0	ENST00000375254.3:c.6999C>T		p.X2333_splice	ENST00000375254	NM_020765.2	2333	ccC/ccT	0	A:0.0109	A:0.0151	.	A:0	.	A	P	protein_coding	YES	CCDS189.1	6999	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGGGCTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21725	A:0	A:0	ENSP00000364403	A:0	48/106	.	.	.	.	.	.	.	.	rs144919897	48/106	common_in_exac	ENST00000375254	Transcript	.	A:0.0042	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000417040,;UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000425413,;UBR4,downstream_gene_variant,,ENST00000497018,;UBR4,splice_region_variant,,ENST00000419533,;	7027	89	54	SUCCESS
KCNT2	343450	.	GRCh37	1	196274416	196274416	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	55	103	0	ENST00000294725.9:c.2543T>G	p.Met848Arg	p.M848R	ENST00000294725		848	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS1384.1	2543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCATGAAT	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Gene3D:3.40.50.720	.	.	ENSP00000294725	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.706)	.	deleterious(0)	.	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	SNV	KCNT2,missense_variant,p.Met774Arg,ENST00000609185,;KCNT2,missense_variant,p.Met848Arg,ENST00000294725,;KCNT2,missense_variant,p.Met824Arg,ENST00000367433,;KCNT2,missense_variant,p.Met774Arg,ENST00000367431,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;	3459	103	156	SUCCESS
MAPKAPK2	9261	.	GRCh37	1	206858647	206858647	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs181345810	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	9	0	ENST00000367103.3:c.73A>C	p.Thr25Pro	p.T25P	ENST00000367103	NM_004759.4	25	Acc/Ccc	0	.	G:0.2179	.	G:0.0403	.	C	T/P	protein_coding	YES	CCDS31001.1	73	MUTECT|MUSE	.	CCCCCACCCCT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF63	G:0	.	ENSP00000356070	G:0.0159	1/10	.	.	.	.	.	.	.	.	rs181345810	1/10	PASS	ENST00000367103	Transcript	.	G:0.0671	ENSG00000162889	6887	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	G:0.0041	tolerated_low_confidence(0.29)	.	MAPK2_HUMAN	MAPKAPK2	HGNC	.	.	UPI0000112289	SNV	MAPKAPK2,missense_variant,p.Thr25Pro,ENST00000294981,;MAPKAPK2,missense_variant,p.Thr25Pro,ENST00000367103,;SNORD112,downstream_gene_variant,,ENST00000517044,;DYRK3,downstream_gene_variant,,ENST00000489878,;	266	9	32	SUCCESS
HSPG2	3339	.	GRCh37	1	22172730	22172730	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1269920627	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	83	1	ENST00000374695.3:c.8335C>T	p.Arg2779Trp	p.R2779W	ENST00000374695	NM_005529.5	2779	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS30625.1	8335	MUTECT|MUSE	.	CAGCCGCAGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000363827	.	64/97	.	.	.	.	.	.	.	.	.	64/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Arg194Trp,ENST00000453796,;HSPG2,missense_variant,p.Arg2779Trp,ENST00000374695,;HSPG2,3_prime_UTR_variant,,ENST00000430507,;	8415	84	54	SUCCESS
ZBTB8B	728116	.	GRCh37	1	32936203	32936203	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	25	0	ENST00000609129.1:c.-23G>T		p.*8*	ENST00000609129	NM_001145720.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44104.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGAGCAG	NONE	.	.	.	.	.	ENSP00000476499	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000609129	Transcript	.	.	ENSG00000273274	37057	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZBT8B_HUMAN	ZBTB8B	HGNC	.	.	UPI000195170E	SNV	ZBTB8B,5_prime_UTR_variant,,ENST00000609129,;RP1-27O5.3,5_prime_UTR_variant,,ENST00000480336,;	56	25	17	SUCCESS
CEP104	9731	.	GRCh37	1	3753156	3753156	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs963375935	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	33	0	ENST00000378230.3:c.1220A>G	p.Asp407Gly	p.D407G	ENST00000378230	NM_014704.3	407	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS30571.1	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATCGCTG	NONE	.	.	hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371	.	.	ENSP00000367476	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000378230	Transcript	.	.	ENSG00000116198	24866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.13)	.	CE104_HUMAN	CEP104	HGNC	.	.	UPI0000139AA8	SNV	CEP104,missense_variant,p.Asp101Gly,ENST00000443466,;CEP104,missense_variant,p.Asp407Gly,ENST00000378230,;CEP104,downstream_gene_variant,,ENST00000428079,;CEP104,intron_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000494653,;CEP104,downstream_gene_variant,,ENST00000494951,;	1545	33	33	SUCCESS
MACF1	23499	.	GRCh37	1	39802991	39802991	+	synonymous_variant	Silent	SNP	G	G	T	rs759810823	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	50	0	ENST00000372915.3:c.10218G>T	p.Leu3406=	p.L3406=	ENST00000372915		3406	ctG/ctT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS435.1	.	MUTECT|MUSE	.	CTGCTGTGTCA	NONE	byFrequency	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	rs759810823	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	36/93	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000476350,;	.	50	54	SUCCESS
GUCA2B	2981	.	GRCh37	1	42620502	42620502	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	78	107	0	ENST00000372581.1:c.242C>T	p.Ala81Val	p.A81V	ENST00000372581	NM_007102.2	81	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS464.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGCCTCGC	NONE	.	.	hmmpanther:PTHR11318:SF1,hmmpanther:PTHR11318,Gene3D:1o8rA00,Pfam_domain:PF02058,PIRSF_domain:PIRSF001849,Superfamily_domains:0041741,Prints_domain:PR00774	.	.	ENSP00000361662	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000372581	Transcript	.	.	ENSG00000044012	4683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.355)	.	tolerated(0.06)	.	GUC2B_HUMAN	GUCA2B	HGNC	.	.	UPI000002E39E	SNV	GUCA2B,missense_variant,p.Ala81Val,ENST00000372581,;	272	107	112	SUCCESS
CTNNBL1	56259	.	GRCh37	20	36431330	36431330	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs764634448	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	63	148	0	ENST00000361383.6:c.1093G>T	p.Glu365Ter	p.E365*	ENST00000361383	NM_030877.4	365	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13298.1	1093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGAAGGC	NONE	byFrequency	.	hmmpanther:PTHR14978:SF0,hmmpanther:PTHR14978,Superfamily_domains:SSF48371	.	.	ENSP00000355050	.	11/16	.	.	.	.	.	.	.	.	rs764634448	11/16	PASS	ENST00000361383	Transcript	.	.	ENSG00000132792	15879	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTBL1_HUMAN	CTNNBL1	HGNC	B4DE16_HUMAN,A2A2P1_HUMAN	.	UPI0000061E09	SNV	CTNNBL1,stop_gained,p.Glu338Ter,ENST00000405275,;CTNNBL1,stop_gained,p.Glu113Ter,ENST00000373469,;CTNNBL1,stop_gained,p.Glu365Ter,ENST00000361383,;CTNNBL1,stop_gained,p.Glu178Ter,ENST00000373473,;CTNNBL1,non_coding_transcript_exon_variant,,ENST00000473857,;	1210	148	140	SUCCESS
LAMA5	3911	.	GRCh37	20	60895866	60895866	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs143165168	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	45	160	1	ENST00000252999.3:c.6577C>G	p.Arg2193Gly	p.R2193G	ENST00000252999	NM_005560.4	2193	Cgt/Ggt	0	A:0.0002	A:0	.	A:0.0014	.	C	R/G	protein_coding	YES	CCDS33502.1	6577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGCAGTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Pfam_domain:PF06008	A:0	A:0	ENSP00000252999	A:0	49/80	.	.	.	.	.	.	.	.	rs143165168	49/80	PASS	ENST00000252999	Transcript	.	A:0.0002	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Arg2193Gly,ENST00000252999,;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000471042,;	6644	161	130	SUCCESS
DONSON	29980	.	GRCh37	21	34958454	34958454	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780645262	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	38	198	0	ENST00000303071.5:c.436C>A	p.Pro146Thr	p.P146T	ENST00000303071	NM_017613.3	146	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS13632.1	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGGAATAT	NONE	.	.	hmmpanther:PTHR12972	.	.	ENSP00000307143	.	3/10	.	.	.	.	.	.	.	.	rs780645262	3/10	PASS	ENST00000303071	Transcript	.	.	ENSG00000159147	2993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.14)	.	DONS_HUMAN	DONSON	HGNC	.	.	UPI00001296AD	SNV	DONSON,missense_variant,p.Pro146Thr,ENST00000432378,;DONSON,missense_variant,p.Pro5Thr,ENST00000440810,;DONSON,missense_variant,p.Pro146Thr,ENST00000303113,;DONSON,missense_variant,p.Pro146Thr,ENST00000303071,;DONSON,missense_variant,p.Pro146Thr,ENST00000453626,;AP000304.12,missense_variant,p.Pro108Thr,ENST00000429238,;DONSON,missense_variant,p.Pro117Thr,ENST00000437395,;CRYZL1,downstream_gene_variant,,ENST00000445393,;CRYZL1,downstream_gene_variant,,ENST00000441940,;CRYZL1,downstream_gene_variant,,ENST00000381554,;CRYZL1,downstream_gene_variant,,ENST00000381540,;CRYZL1,downstream_gene_variant,,ENST00000290244,;CRYZL1,downstream_gene_variant,,ENST00000480893,;DONSON,missense_variant,p.Pro146Thr,ENST00000457359,;DONSON,missense_variant,p.Pro39Thr,ENST00000442660,;DONSON,missense_variant,p.Pro39Thr,ENST00000444517,;DONSON,intron_variant,,ENST00000417871,;CRYZL1,downstream_gene_variant,,ENST00000437996,;DONSON,upstream_gene_variant,,ENST00000462566,;CRYZL1,downstream_gene_variant,,ENST00000452420,;CRYZL1,downstream_gene_variant,,ENST00000468349,;	503	198	120	SUCCESS
BCRP2	400892	.	GRCh37	22	21470283	21470283	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	23	0	ENST00000461808.1:n.277T>C		p.*93*	ENST00000461808				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|VARSCANS	.	AGGCATGGAGG	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000420508	Transcript	.	.	ENSG00000197210	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KB-1592A4.15	Clone_based_vega_gene	.	.	.	SNV	KB-1592A4.15,non_coding_transcript_exon_variant,,ENST00000420508,;BCRP2,non_coding_transcript_exon_variant,,ENST00000461808,;BCRP2,upstream_gene_variant,,ENST00000398241,;BCRP2,non_coding_transcript_exon_variant,,ENST00000447763,;	3446	23	14	SUCCESS
PLA2G3	50487	.	GRCh37	22	31535824	31535824	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	30	0	ENST00000215885.3:c.514+3G>A		p.X172_splice	ENST00000215885	NM_015715.3	172		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13889.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCACCCA	NONE	.	.	.	.	.	ENSP00000215885	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000215885	Transcript	.	.	ENSG00000100078	17934	.	.	LOW	1/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PA2G3_HUMAN	PLA2G3	HGNC	.	.	UPI00001AE5E4	SNV	PLA2G3,splice_region_variant,,ENST00000215885,;	.	30	22	SUCCESS
GRAMD4	23151	.	GRCh37	22	47033858	47033858	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	106	0	ENST00000361034.3:c.283+1G>C		p.X95_splice	ENST00000361034	NM_015124.3	95		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33672.1	.	MUTECT|MUSE	.	CTTACGTGAGT	NONE	.	.	.	.	.	ENSP00000385689	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406902	Transcript	.	.	ENSG00000075240	29113	.	.	HIGH	3/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRAM4_HUMAN	GRAMD4	HGNC	.	.	UPI0000161A59	SNV	GRAMD4,splice_donor_variant,,ENST00000406902,;GRAMD4,splice_donor_variant,,ENST00000361034,;GRAMD4,downstream_gene_variant,,ENST00000447351,;GRAMD4,downstream_gene_variant,,ENST00000490378,;	.	106	77	SUCCESS
SCN9A	6335	.	GRCh37	2	167149749	167149749	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs200457046	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	92	0	ENST00000303354.6:c.1102T>A	p.Tyr368Asn	p.Y368N	ENST00000303354		368	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS46441.1	1099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTAAAGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	9/27	.	.	.	.	.	.	.	.	rs200457046	9/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,missense_variant,p.Tyr232Asn,ENST00000452182,;SCN9A,missense_variant,p.Tyr367Asn,ENST00000409672,;SCN9A,missense_variant,p.Tyr368Asn,ENST00000375387,;SCN9A,missense_variant,p.Tyr232Asn,ENST00000454569,;SCN9A,missense_variant,p.Tyr367Asn,ENST00000409435,;SCN9A,missense_variant,p.Tyr368Asn,ENST00000303354,;AC010127.3,intron_variant,,ENST00000447809,;	1446	92	80	SUCCESS
APOB	338	.	GRCh37	2	21249795	21249795	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	75	199	0	ENST00000233242.1:c.2109T>C	p.Ala703=	p.A703=	ENST00000233242	NM_000384.2	703	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS1703.1	2109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAGCTTC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA03,Pfam_domain:PF09172,Superfamily_domains:SSF56968	.	.	ENSP00000233242	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,synonymous_variant,p.%3D,ENST00000233242,;APOB,synonymous_variant,p.%3D,ENST00000399256,;	2237	199	142	SUCCESS
ARPC2	10109	.	GRCh37	2	219114171	219114171	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	52	0	ENST00000295685.10:c.761A>G	p.His254Arg	p.H254R	ENST00000295685	NM_005731.3	254	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS2410.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCACATCA	NONE	.	.	hmmpanther:PTHR12058,Gene3D:3.30.1460.20,Pfam_domain:PF04045,Superfamily_domains:SSF69645	.	.	ENSP00000295685	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000295685	Transcript	.	.	ENSG00000163466	705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARPC2_HUMAN	ARPC2	HGNC	Q53R19_HUMAN,C9JTV5_HUMAN	.	UPI0000125D3D	SNV	ARPC2,missense_variant,p.His254Arg,ENST00000315717,;ARPC2,missense_variant,p.His254Arg,ENST00000295685,;ARPC2,missense_variant,p.His69Arg,ENST00000456575,;ARPC2,non_coding_transcript_exon_variant,,ENST00000477992,;ARPC2,upstream_gene_variant,,ENST00000487321,;ARPC2,downstream_gene_variant,,ENST00000478612,;ARPC2,non_coding_transcript_exon_variant,,ENST00000470146,;	1022	52	43	SUCCESS
TRIP12	9320	.	GRCh37	2	230657707	230657707	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	38	85	0	ENST00000283943.5:c.3898A>T	p.Arg1300Ter	p.R1300*	ENST00000283943	NM_004238.1	1300	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS33391.1	3898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTCTCGA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,Low_complexity_(Seg):seg	.	.	ENSP00000283943	.	26/41	.	.	.	.	.	.	.	.	.	26/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,stop_gained,p.Arg1300Ter,ENST00000283943,;TRIP12,stop_gained,p.Arg1030Ter,ENST00000389045,;TRIP12,stop_gained,p.Arg1348Ter,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000470302,;TRIP12,non_coding_transcript_exon_variant,,ENST00000495322,;TRIP12,downstream_gene_variant,,ENST00000461189,;	4077	85	63	SUCCESS
CAMKMT	79823	.	GRCh37	2	44993577	44993577	+	synonymous_variant	Silent	SNP	G	G	T	rs201420188	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	50	142	1	ENST00000378494.3:c.771G>T	p.Ala257=	p.A257=	ENST00000378494	NM_024766.4	257	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1820.1	771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGATGGT	NONE	byCluster	.	PROSITE_profiles:PS51610,hmmpanther:PTHR13539,Pfam_domain:PF10294,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000367755	.	10/11	.	.	.	.	.	.	.	.	rs201420188	10/11	PASS	ENST00000378494	Transcript	.	.	ENSG00000143919	26276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMKMT_HUMAN	CAMKMT	HGNC	D6W5A4_HUMAN	.	UPI0000070B33	SNV	CAMKMT,synonymous_variant,p.%3D,ENST00000378494,;	815	143	91	SUCCESS
USP34	9736	.	GRCh37	2	61430400	61430400	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	.	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	32	55	0	ENST00000398571.2:c.9385-2A>C		p.X3129_splice	ENST00000398571	NM_014709.3	3129		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42686.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGAAGG	NONE	.	.	.	.	.	ENSP00000381577	.	.	.	.	.	.	.	.	.	.	COSM3839760	.	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	HIGH	74/79	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,splice_acceptor_variant,,ENST00000398571,;USP34,intron_variant,,ENST00000411912,;USP34,intron_variant,,ENST00000436269,;RP11-493E12.2,downstream_gene_variant,,ENST00000609422,;USP34,downstream_gene_variant,,ENST00000467128,;USP34,downstream_gene_variant,,ENST00000476716,;USP34,splice_acceptor_variant,,ENST00000463046,;	.	55	51	SUCCESS
ANKRD53	79998	.	GRCh37	2	71206977	71206977	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149813455	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	84	0	ENST00000360589.3:c.604G>T	p.Ala202Ser	p.A202S	ENST00000360589	NM_001115116.1	202	Gca/Tca	0	A:0.0023	.	.	.	.	T	A/S	protein_coding	YES	CCDS46321.1	604	MUTECT|MUSE	.	AAGGCGCAGAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24160,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	A:0	ENSP00000353796	.	3/6	.	.	.	.	.	.	.	.	rs149813455	3/6	PASS	ENST00000360589	Transcript	.	.	ENSG00000144031	25691	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	ANR53_HUMAN	ANKRD53	HGNC	.	.	UPI000013D952	SNV	ANKRD53,missense_variant,p.Ala168Ser,ENST00000457410,;ANKRD53,missense_variant,p.Ala202Ser,ENST00000272421,;ANKRD53,missense_variant,p.Ala168Ser,ENST00000441349,;ANKRD53,missense_variant,p.Ala202Ser,ENST00000360589,;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,non_coding_transcript_exon_variant,,ENST00000496088,;AC007040.11,intron_variant,,ENST00000453130,;ANKRD53,intron_variant,,ENST00000483334,;ANKRD53,upstream_gene_variant,,ENST00000460927,;	638	84	51	SUCCESS
MPHOSPH10	10199	.	GRCh37	2	71360572	71360572	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	88	267	0	ENST00000244230.2:c.634G>T	p.Ala212Ser	p.A212S	ENST00000244230	NM_005791.2	212	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1916.1	634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGCCTAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17039,Pfam_domain:PF04006,PIRSF_domain:PIRSF017300	.	.	ENSP00000244230	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000244230	Transcript	.	.	ENSG00000124383	7213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.36)	.	MPP10_HUMAN	MPHOSPH10	HGNC	.	.	UPI000012F41D	SNV	MPHOSPH10,missense_variant,p.Ala212Ser,ENST00000244230,;MPHOSPH10,missense_variant,p.Ala212Ser,ENST00000498451,;MCEE,upstream_gene_variant,,ENST00000486135,;MCEE,upstream_gene_variant,,ENST00000244217,;MCEE,upstream_gene_variant,,ENST00000494660,;MPHOSPH10,downstream_gene_variant,,ENST00000468427,;	986	267	154	SUCCESS
NXPE3	91775	.	GRCh37	3	101520122	101520122	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1469234935	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	46	210	0	ENST00000273347.5:c.137G>A	p.Ser46Asn	p.S46N	ENST00000273347	NM_145037.2	46	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS2945.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGTGGAC	NONE	.	.	hmmpanther:PTHR16165:SF1,hmmpanther:PTHR16165	.	.	ENSP00000396421	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000422132	Transcript	.	.	ENSG00000144815	28238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	NXPE3_HUMAN	NXPE3	HGNC	C9K0A9_HUMAN	.	UPI000006D090	SNV	NXPE3,missense_variant,p.Ser46Asn,ENST00000491511,;NXPE3,missense_variant,p.Ser46Asn,ENST00000474165,;NXPE3,missense_variant,p.Ser46Asn,ENST00000422132,;NXPE3,missense_variant,p.Ser46Asn,ENST00000273347,;NXPE3,missense_variant,p.Ser46Asn,ENST00000477909,;	334	210	165	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119134792	119134792	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	94	0	ENST00000264245.4:c.4016C>A	p.Ser1339Ter	p.S1339*	ENST00000264245	NM_020754.2	1339	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS43135.1	4016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCAAGGC	NONE	.	.	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	12/12	.	.	.	.	.	.	.	.	COSM3940214	12/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,stop_gained,p.Ser1339Ter,ENST00000264245,;	4548	94	80	SUCCESS
PARP9	83666	.	GRCh37	3	122271265	122271265	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	60	146	2	ENST00000360356.2:c.1212G>A		p.X404_splice	ENST00000360356	NM_001146102.1	404	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS3014.1	1212	RADIA|SOMATICSNIPER|VARSCANS	.	CTTACCTGAGG	NONE	.	.	PROSITE_profiles:PS51154,hmmpanther:PTHR14453:SF11,hmmpanther:PTHR14453,Gene3D:3.40.220.10,Pfam_domain:PF01661,SMART_domains:SM00506,Superfamily_domains:SSF52949	.	.	ENSP00000353512	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000360356	Transcript	.	.	ENSG00000138496	24118	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PARP9_HUMAN	PARP9	HGNC	Q658Y0_HUMAN	.	UPI000013D133	SNV	PARP9,synonymous_variant,p.%3D,ENST00000477522,;PARP9,synonymous_variant,p.%3D,ENST00000462315,;PARP9,synonymous_variant,p.%3D,ENST00000471785,;PARP9,synonymous_variant,p.%3D,ENST00000360356,;PARP9,intron_variant,,ENST00000492382,;PARP9,downstream_gene_variant,,ENST00000466126,;	1440	148	100	SUCCESS
ADCY5	111	.	GRCh37	3	123166435	123166435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	33	1	ENST00000462833.1:c.958C>A	p.Pro320Thr	p.P320T	ENST00000462833	NM_183357.2	320	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3022.1	958	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGCAGCA	NONE	.	.	hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	.	.	ENSP00000419361	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.64)	.	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,missense_variant,p.Pro320Thr,ENST00000462833,;	2171	34	24	SUCCESS
MME	4311	.	GRCh37	3	154860094	154860094	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	120	0	ENST00000360490.2:c.1163A>T	p.Lys388Met	p.K388M	ENST00000360490	NM_007289.2	388	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS3172.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAAGGAGT	NONE	.	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF114,hmmpanther:PTHR11733	.	.	ENSP00000418525	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000460393	Transcript	.	.	ENSG00000196549	7154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NEP_HUMAN	MME	HGNC	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN	.	UPI0000033C41	SNV	MME,missense_variant,p.Lys388Met,ENST00000360490,;MME,missense_variant,p.Lys388Met,ENST00000460393,;MME,missense_variant,p.Lys388Met,ENST00000492661,;MME,missense_variant,p.Lys388Met,ENST00000493237,;MME,missense_variant,p.Lys388Met,ENST00000462745,;	1283	120	91	SUCCESS
BTD	686	.	GRCh37	3	15643533	15643533	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	16	0	ENST00000303498.5:c.44+132G>T		p.*15*	ENST00000303498	NM_000060.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2628.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGTCGTT	NONE	.	.	.	.	.	ENSP00000306477	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303498	Transcript	.	.	ENSG00000169814	1122	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTD_HUMAN	BTD	HGNC	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN	.	UPI000013E8A8	SNV	BTD,5_prime_UTR_variant,,ENST00000436193,;BTD,5_prime_UTR_variant,,ENST00000383778,;BTD,intron_variant,,ENST00000427382,;BTD,intron_variant,,ENST00000303498,;BTD,intron_variant,,ENST00000437172,;BTD,intron_variant,,ENST00000449107,;HACL1,upstream_gene_variant,,ENST00000457447,;HACL1,upstream_gene_variant,,ENST00000456194,;HACL1,upstream_gene_variant,,ENST00000435217,;HACL1,upstream_gene_variant,,ENST00000321169,;HACL1,upstream_gene_variant,,ENST00000414979,;HACL1,upstream_gene_variant,,ENST00000421993,;HACL1,upstream_gene_variant,,ENST00000451445,;BTD,intron_variant,,ENST00000471964,;BTD,intron_variant,,ENST00000480711,;BTD,intron_variant,,ENST00000494021,;BTD,intron_variant,,ENST00000467027,;BTD,intron_variant,,ENST00000417015,;HACL1,upstream_gene_variant,,ENST00000383779,;HACL1,upstream_gene_variant,,ENST00000469454,;HACL1,upstream_gene_variant,,ENST00000422591,;HACL1,upstream_gene_variant,,ENST00000460907,;HACL1,upstream_gene_variant,,ENST00000472857,;	.	16	28	SUCCESS
TOP2B	7155	.	GRCh37	3	25654029	25654029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	41	0	ENST00000264331.4:c.3763A>G	p.Lys1255Glu	p.K1255E	ENST00000264331		1255	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS46776.1	3748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36	.	.	ENSP00000396704	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	tolerated(0.34)	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,missense_variant,p.Lys1255Glu,ENST00000264331,;TOP2B,missense_variant,p.Lys1250Glu,ENST00000435706,;TOP2B,missense_variant,p.Lys107Glu,ENST00000540199,;TOP2B,missense_variant,p.Lys107Glu,ENST00000542520,;TOP2B,downstream_gene_variant,,ENST00000424225,;TOP2B,downstream_gene_variant,,ENST00000475717,;TOP2B,3_prime_UTR_variant,,ENST00000413971,;	3950	41	46	SUCCESS
TRANK1	9881	.	GRCh37	3	36874434	36874434	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375370078	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	64	0	ENST00000429976.2:c.6508C>T	p.Arg2170Trp	p.R2170W	ENST00000429976		2170	Cgg/Tgg	0	T:0.0003	T:0.0008	.	T:0	.	A	R/W	protein_coding	YES	CCDS46789.2	6508	MUTECT|MUSE	.	ACGCCGCAGAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	T:0	T:0	ENSP00000416168	T:0	21/23	.	.	.	.	.	.	.	.	rs375370078,COSM285923,COSM285924,COSM285925	21/23	PASS	ENST00000429976	Transcript	.	T:0.0002	ENSG00000168016	29011	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	possibly_damaging(0.696)	T:0	deleterious(0.02)	0,1,1,1	TRNK1_HUMAN	TRANK1	HGNC	B7WP88_HUMAN	.	UPI00017BE82B	SNV	TRANK1,missense_variant,p.Arg1620Trp,ENST00000428977,;TRANK1,missense_variant,p.Arg1620Trp,ENST00000301807,;TRANK1,missense_variant,p.Arg2170Trp,ENST00000429976,;	6756	64	48	SUCCESS
HEMK1	51409	.	GRCh37	3	50609148	50609148	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	30	71	0	ENST00000232854.4:c.236G>A	p.Ser79Asn	p.S79N	ENST00000232854	NM_016173.3	79	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS2830.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGCCTGA	NONE	.	.	hmmpanther:PTHR18895:SF7,hmmpanther:PTHR18895,Gene3D:1.10.8.10,TIGRFAM_domain:TIGR00536,TIGRFAM_domain:TIGR03534,Superfamily_domains:SSF53335	.	.	ENSP00000232854	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000232854	Transcript	.	.	ENSG00000114735	24923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.07)	.	HEMK1_HUMAN	HEMK1	HGNC	.	.	UPI000012C594	SNV	HEMK1,missense_variant,p.Ser79Asn,ENST00000455834,;HEMK1,missense_variant,p.Ser79Asn,ENST00000232854,;HEMK1,missense_variant,p.Ser79Asn,ENST00000434410,;C3orf18,upstream_gene_variant,,ENST00000426034,;C3orf18,upstream_gene_variant,,ENST00000357203,;C3orf18,upstream_gene_variant,,ENST00000441239,;C3orf18,upstream_gene_variant,,ENST00000449241,;C3orf18,upstream_gene_variant,,ENST00000485902,;C3orf18,upstream_gene_variant,,ENST00000486175,;C3orf18,upstream_gene_variant,,ENST00000464080,;C3orf18,upstream_gene_variant,,ENST00000484982,;C3orf18,upstream_gene_variant,,ENST00000491269,;HEMK1,synonymous_variant,p.%3D,ENST00000448997,;HEMK1,synonymous_variant,p.%3D,ENST00000424388,;HEMK1,non_coding_transcript_exon_variant,,ENST00000482974,;C3orf18,upstream_gene_variant,,ENST00000430746,;	788	71	53	SUCCESS
DNAH1	25981	.	GRCh37	3	52415808	52415808	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	107	0	ENST00000420323.2:c.7761G>T	p.Val2587=	p.V2587=	ENST00000420323	NM_015512.4	2587	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46842.1	7761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTGGGTGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	49/78	.	.	.	.	.	.	.	.	.	49/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,synonymous_variant,p.%3D,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,upstream_gene_variant,,ENST00000488988,;	8022	107	69	SUCCESS
DNAH1	25981	.	GRCh37	3	52415809	52415809	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	105	0	ENST00000420323.2:c.7762G>C	p.Gly2588Arg	p.G2588R	ENST00000420323	NM_015512.4	2588	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS46842.1	7762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGGGTGGC	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	49/78	.	.	.	.	.	.	.	.	.	49/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Gly2588Arg,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,upstream_gene_variant,,ENST00000488988,;	8023	105	68	SUCCESS
PHF7	51533	.	GRCh37	3	52448577	52448577	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	40	100	0	ENST00000327906.3:c.160A>G	p.Asn54Asp	p.N54D	ENST00000327906	NM_016483.5	54	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS2854.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAATATC	NONE	.	.	hmmpanther:PTHR12420:SF11,hmmpanther:PTHR12420	.	.	ENSP00000333024	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000327906	Transcript	.	.	ENSG00000010318	18458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.18)	.	PHF7_HUMAN	PHF7	HGNC	C9J4W0_HUMAN	.	UPI000007190E	SNV	PHF7,missense_variant,p.Asn54Asp,ENST00000347025,;PHF7,missense_variant,p.Asn14Asp,ENST00000461861,;PHF7,missense_variant,p.Asn54Asp,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000296288,;BAP1,upstream_gene_variant,,ENST00000460680,;BAP1,upstream_gene_variant,,ENST00000470173,;PHF7,non_coding_transcript_exon_variant,,ENST00000482327,;PHF7,intron_variant,,ENST00000472337,;PHF7,non_coding_transcript_exon_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000483984,;	820	100	78	SUCCESS
KLHL2	11275	.	GRCh37	4	166238988	166238988	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	129	0	ENST00000226725.6:c.1620A>G	p.Ala540=	p.A540=	ENST00000226725	NM_007246.3	540	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS54815.1	1632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAGTTAA	NONE	.	.	Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Pfam_domain:PF01344,Gene3D:1k3iA02,hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412	.	.	ENSP00000424198	.	14/15	.	.	.	.	.	.	.	.	COSM4123308	14/15	PASS	ENST00000514860	Transcript	.	.	ENSG00000109466	6353	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,synonymous_variant,p.%3D,ENST00000514860,;KLHL2,synonymous_variant,p.%3D,ENST00000226725,;KLHL2,synonymous_variant,p.%3D,ENST00000506761,;KLHL2,synonymous_variant,p.%3D,ENST00000538127,;KLHL2,synonymous_variant,p.%3D,ENST00000421009,;KLHL2,non_coding_transcript_exon_variant,,ENST00000509028,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	1882	129	89	SUCCESS
COPS4	51138	.	GRCh37	4	83984336	83984336	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	49	124	0	ENST00000264389.2:c.823G>A	p.Gly275Arg	p.G275R	ENST00000264389	NM_016129.2	275	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS3600.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGGAAAT	NONE	.	.	Pfam_domain:PF01399,hmmpanther:PTHR10855	.	.	ENSP00000264389	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000264389	Transcript	.	.	ENSG00000138663	16702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.77)	.	CSN4_HUMAN	COPS4	HGNC	.	.	UPI0000037722	SNV	COPS4,missense_variant,p.Gly275Arg,ENST00000511653,;COPS4,missense_variant,p.Gly275Arg,ENST00000503682,;COPS4,missense_variant,p.Gly163Arg,ENST00000509317,;COPS4,missense_variant,p.Gly275Arg,ENST00000264389,;COPS4,missense_variant,p.Gly275Arg,ENST00000509093,;COPS4,non_coding_transcript_exon_variant,,ENST00000504274,;	958	124	92	SUCCESS
Z95704.2	0	.	GRCh37	4	86745	86745	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	73	143	0	ENST00000380882.5:n.1123C>A		p.*375*	ENST00000380882				0	.	.	.	.	.	A	.	pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACCTTAC	NONE	.	.	.	.	.	.	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000380882	Transcript	.	.	ENSG00000255436	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	Z95704.2	Clone_based_ensembl_gene	.	.	.	SNV	ZNF595,non_coding_transcript_exon_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;Z95704.2,non_coding_transcript_exon_variant,,ENST00000380882,;	1123	143	144	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128887587	128887587	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	73	0	ENST00000274487.4:c.1341A>C	p.Pro447=	p.P447=	ENST00000274487	NM_133638.3	447	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4146.1	1341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCATGTGA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000274487	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,synonymous_variant,p.%3D,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1486	73	98	SUCCESS
IL4	3565	.	GRCh37	5	132009824	132009824	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs772721636	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	58	0	ENST00000231449.2:c.82G>C	p.Asp28His	p.D28H	ENST00000231449	NM_000589.3	28	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4158.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCGATATC	NONE	byFrequency	.	Superfamily_domains:SSF47266,PIRSF_domain:PIRSF001941,SMART_domains:SM00190,Gene3D:1.20.1250.10,Pfam_domain:PF00727,hmmpanther:PTHR11456,hmmpanther:PTHR11456:SF0	.	.	ENSP00000231449	.	1/4	.	.	.	.	.	.	.	.	rs772721636,COSM3850069	1/4	PASS	ENST00000231449	Transcript	1	.	ENSG00000113520	6014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	deleterious(0.04)	0,1	IL4_HUMAN	IL4	HGNC	D4HNR6_HUMAN,A1Z2K1_HUMAN	.	UPI000002B781	SNV	IL4,missense_variant,p.Asp28His,ENST00000231449,;IL4,missense_variant,p.Asp28His,ENST00000350025,;IL4,upstream_gene_variant,,ENST00000495905,;	147	58	63	SUCCESS
PCDHA13	56136	.	GRCh37	5	140262349	140262349	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	65	139	0	ENST00000289272.2:c.496T>A	p.Ser166Thr	p.S166T	ENST00000289272	NM_018904.2	166	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS4240.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACTCGGCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious_low_confidence(0)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Ser166Thr,ENST00000289272,;PCDHA13,missense_variant,p.Ser166Thr,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	496	139	134	SUCCESS
PCDHB4	56131	.	GRCh37	5	140502767	140502767	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	46	83	1	ENST00000194152.1:c.1187T>C	p.Leu396Ser	p.L396S	ENST00000194152	NM_018938.2	396	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS4246.1	1187	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTTGAAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF55,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000194152	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000194152	Transcript	.	.	ENSG00000081818	8689	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.076)	.	deleterious(0.05)	.	PCDB4_HUMAN	PCDHB4	HGNC	.	.	UPI00001273DF	SNV	PCDHB4,missense_variant,p.Leu396Ser,ENST00000194152,;AC005754.8,downstream_gene_variant,,ENST00000606030,;	1187	85	109	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140794859	140794859	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778092218	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	53	107	0	ENST00000398610.2:c.2117G>T	p.Cys706Phe	p.C706F	ENST00000398610	NM_018913.2	706	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS47292.1	2117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGCGTCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	rs778092218	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.301)	.	deleterious_low_confidence(0)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Cys706Phe,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	2117	107	104	SUCCESS
TRIO	7204	.	GRCh37	5	14270940	14270940	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1383482299	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	40	82	0	ENST00000344204.4:c.164G>A	p.Arg55Gln	p.R55Q	ENST00000344204	NM_007118.2	55	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3883.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCGAAAAA	NONE	.	.	.	.	.	ENSP00000339299	.	2/57	.	.	.	.	.	.	.	.	.	2/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,missense_variant,p.Arg55Gln,ENST00000537187,;TRIO,missense_variant,p.Arg6Gln,ENST00000509967,;TRIO,missense_variant,p.Arg55Gln,ENST00000344204,;TRIO,5_prime_UTR_variant,,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000505971,;TRIO,non_coding_transcript_exon_variant,,ENST00000502816,;	188	82	66	SUCCESS
FBXL7	23194	.	GRCh37	5	15928320	15928320	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1038279605	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	44	0	ENST00000504595.1:c.449A>G	p.Asp150Gly	p.D150G	ENST00000504595	NM_012304.4	150	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54833.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGACCCGC	NONE	.	.	PROSITE_profiles:PS50181,hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383	.	.	ENSP00000423630	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.1)	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Asp138Gly,ENST00000329673,;FBXL7,missense_variant,p.Asp103Gly,ENST00000510662,;FBXL7,missense_variant,p.Asp150Gly,ENST00000504595,;	930	44	51	SUCCESS
DBN1	1627	.	GRCh37	5	176899177	176899177	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	46	102	0	ENST00000309007.5:c.86+1260T>C		p.*29*	ENST00000309007	NM_004395.3	12		0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4421.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGTGCT	NONE	.	.	SMART_domains:SM00102,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829,PROSITE_profiles:PS51263	.	.	ENSP00000292385	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious_low_confidence(0.02)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Leu12Pro,ENST00000292385,;DBN1,intron_variant,,ENST00000309007,;DBN1,intron_variant,,ENST00000506117,;DBN1,intron_variant,,ENST00000477391,;DBN1,intron_variant,,ENST00000393565,;DBN1,intron_variant,,ENST00000514833,;DBN1,intron_variant,,ENST00000472831,;DBN1,intron_variant,,ENST00000505550,;DBN1,upstream_gene_variant,,ENST00000471767,;	645	102	96	SUCCESS
MAP1B	4131	.	GRCh37	5	71493321	71493321	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	104	0	ENST00000296755.7:c.4139T>A	p.Met1380Lys	p.M1380K	ENST00000296755	NM_005909.3	1380	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS4012.1	4139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATGGATG	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Met1380Lys,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	4437	104	128	SUCCESS
CCNC	892	.	GRCh37	6	100010759	100010759	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	92	0	ENST00000520429.1:c.98C>A	p.Ser33Ter	p.S33*	ENST00000520429	NM_005190.3	33	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS34502.1	98	MUTECT|MUSE	.	CCTCTGAGAGA	NONE	.	.	hmmpanther:PTHR10026,Gene3D:1.10.472.10,PIRSF_domain:PIRSF028758,Superfamily_domains:SSF47954	.	.	ENSP00000428982	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000520429	Transcript	.	.	ENSG00000112237	1581	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNC_HUMAN	CCNC	HGNC	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN	.	UPI0000169CFB	SNV	CCNC,stop_gained,p.Ser33Ter,ENST00000369220,;CCNC,stop_gained,p.Ser33Ter,ENST00000520371,;CCNC,stop_gained,p.Ser33Ter,ENST00000482541,;CCNC,stop_gained,p.Ser33Ter,ENST00000518714,;CCNC,stop_gained,p.Ser33Ter,ENST00000520429,;CCNC,stop_gained,p.Ser80Ter,ENST00000369217,;CCNC,5_prime_UTR_variant,,ENST00000524049,;CCNC,5_prime_UTR_variant,,ENST00000523799,;CCNC,intron_variant,,ENST00000523985,;CCNC,upstream_gene_variant,,ENST00000486428,;CCNC,non_coding_transcript_exon_variant,,ENST00000521017,;CCNC,stop_gained,p.Ser33Ter,ENST00000523961,;CCNC,stop_gained,p.Ser33Ter,ENST00000326298,;CCNC,stop_gained,p.Ser33Ter,ENST00000484049,;CCNC,non_coding_transcript_exon_variant,,ENST00000523541,;CCNC,non_coding_transcript_exon_variant,,ENST00000523639,;CCNC,upstream_gene_variant,,ENST00000523310,;	544	92	46	SUCCESS
POPDC3	64208	.	GRCh37	6	105606476	105606476	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758687042	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	79	152	0	ENST00000254765.3:c.745A>G	p.Arg249Gly	p.R249G	ENST00000254765	NM_022361.4	249	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS5052.1	745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTGTCAT	NONE	.	.	hmmpanther:PTHR12101:SF18,hmmpanther:PTHR12101,Pfam_domain:PF04831	.	.	ENSP00000254765	.	4/4	.	.	.	.	.	.	.	.	rs758687042	4/4	PASS	ENST00000254765	Transcript	.	.	ENSG00000132429	17649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0)	.	POPD3_HUMAN	POPDC3	HGNC	.	.	UPI000006FA58	SNV	POPDC3,missense_variant,p.Arg95Gly,ENST00000429112,;POPDC3,missense_variant,p.Arg249Gly,ENST00000254765,;BVES-AS1,intron_variant,,ENST00000580511,;BVES-AS1,intron_variant,,ENST00000369120,;BVES-AS1,intron_variant,,ENST00000369122,;BVES-AS1,intron_variant,,ENST00000580854,;POPDC3,non_coding_transcript_exon_variant,,ENST00000474760,;POPDC3,non_coding_transcript_exon_variant,,ENST00000489134,;	1024	152	132	SUCCESS
L3MBTL3	84456	.	GRCh37	6	130381199	130381199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	126	0	ENST00000361794.2:c.778A>T	p.Asn260Tyr	p.N260Y	ENST00000361794	NM_032438.2	260	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS34537.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATAACAAA	NONE	.	.	Superfamily_domains:SSF63748,SMART_domains:SM00561,Gene3D:2.30.30.160,hmmpanther:PTHR12247:SF72,hmmpanther:PTHR12247,PROSITE_profiles:PS51079	.	.	ENSP00000431962	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000529410	Transcript	.	.	ENSG00000198945	23035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	tolerated(0.15)	.	LMBL3_HUMAN	L3MBTL3	HGNC	E9PLL7_HUMAN	.	UPI00001C1E3E	SNV	L3MBTL3,missense_variant,p.Asn260Tyr,ENST00000361794,;L3MBTL3,missense_variant,p.Asn235Tyr,ENST00000368139,;L3MBTL3,missense_variant,p.Asn235Tyr,ENST00000533560,;L3MBTL3,missense_variant,p.Asn260Tyr,ENST00000368136,;L3MBTL3,missense_variant,p.Asn235Tyr,ENST00000526019,;L3MBTL3,missense_variant,p.Asn260Tyr,ENST00000529410,;L3MBTL3,non_coding_transcript_exon_variant,,ENST00000531313,;	1257	126	91	SUCCESS
IPCEF1	26034	.	GRCh37	6	154489242	154489242	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	117	2	ENST00000265198.4:c.914C>A	p.Thr305Lys	p.T305K	ENST00000265198	NM_015553.2	305	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS47509.1	917	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTTGTCTCT	NONE	.	.	hmmpanther:PTHR12844	.	.	ENSP00000394751	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000422970	Transcript	.	.	ENSG00000074706	21204	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.211)	.	tolerated(0.81)	.	ICEF1_HUMAN	IPCEF1	HGNC	G3V132_HUMAN,E5RJQ7_HUMAN,E5RGN6_HUMAN,E5RGB6_HUMAN	.	UPI000022CD0D	SNV	IPCEF1,missense_variant,p.Thr277Lys,ENST00000519344,;IPCEF1,missense_variant,p.Thr305Lys,ENST00000265198,;IPCEF1,missense_variant,p.Thr306Lys,ENST00000422970,;IPCEF1,missense_variant,p.Thr306Lys,ENST00000367220,;OPRM1,intron_variant,,ENST00000337049,;IPCEF1,non_coding_transcript_exon_variant,,ENST00000522590,;OPRM1,intron_variant,,ENST00000524150,;	1113	119	70	SUCCESS
NOX3	50508	.	GRCh37	6	155750073	155750073	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	45	120	1	ENST00000159060.2:c.1000G>T	p.Glu334Ter	p.E334*	ENST00000159060	NM_015718.2	334	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5250.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCCAGCG	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Gene3D:2.40.30.10,Pfam_domain:PF08022,Superfamily_domains:SSF63380	.	.	ENSP00000159060	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,stop_gained,p.Glu334Ter,ENST00000159060,;	1103	121	64	SUCCESS
DNAH8	1769	.	GRCh37	6	38838323	38838323	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773021493	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	33	44	0	ENST00000359357.3:c.6324C>A	p.Asn2108Lys	p.N2108K	ENST00000359357		2108	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	.	6324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACCTGAA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	47/91	.	.	.	.	.	.	.	.	rs773021493	47/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.468)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Asn2108Lys,ENST00000359357,;DNAH8,missense_variant,p.Asn2313Lys,ENST00000327475,;DNAH8,missense_variant,p.Asn2072Lys,ENST00000441566,;DNAH8,missense_variant,p.Asn2325Lys,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000394393,;	6578	44	53	SUCCESS
KIAA1586	57691	.	GRCh37	6	56918222	56918222	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	42	124	0	ENST00000370733.4:c.925G>A	p.Glu309Lys	p.E309K	ENST00000370733	NM_020931.2	309	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34480.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATAGAAGAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53098	.	.	ENSP00000359768	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370733	Transcript	.	.	ENSG00000168116	21360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.19)	.	K1586_HUMAN	KIAA1586	HGNC	.	.	UPI0000074573	SNV	KIAA1586,missense_variant,p.Glu309Lys,ENST00000370733,;KIAA1586,missense_variant,p.Glu282Lys,ENST00000545356,;KIAA1586,downstream_gene_variant,,ENST00000488682,;	1132	124	76	SUCCESS
EYS	346007	.	GRCh37	6	65767551	65767551	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	136	245	0	ENST00000370616.2:c.2093A>G	p.Asp698Gly	p.D698G	ENST00000370616		698	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS47445.1	2093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGTCAATG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.01)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Asp698Gly,ENST00000370616,;EYS,missense_variant,p.Asp698Gly,ENST00000370621,;EYS,missense_variant,p.Asp698Gly,ENST00000503581,;	2631	245	218	SUCCESS
TBX18	9096	.	GRCh37	6	85446614	85446614	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs925097478	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	70	143	2	ENST00000369663.5:c.1613C>T	p.Pro538Leu	p.P538L	ENST00000369663	NM_001080508.2	538	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34495.1	1613	RADIA|SOMATICSNIPER|VARSCANS	.	GTTTGGGGGAT	NONE	.	.	hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	SNV	TBX18,missense_variant,p.Pro538Leu,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;	1951	145	122	SUCCESS
PMPCB	9512	.	GRCh37	7	102937995	102937995	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775775729	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	27	1	ENST00000249269.4:c.89C>T	p.Ala30Val	p.A30V	ENST00000249269	NM_004279.2	30	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5730.1	89	SOMATICSNIPER|VARSCANS	.	AGGCGCTGCGG	NONE	byFrequency	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF103	.	.	ENSP00000249269	.	1/13	.	.	.	.	.	.	.	.	rs775775729	1/13	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.28)	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,missense_variant,p.Ala30Val,ENST00000428154,;PMPCB,missense_variant,p.Ala30Val,ENST00000249269,;PMPCB,5_prime_UTR_variant,,ENST00000420236,;PMPCB,missense_variant,p.Ala30Val,ENST00000456433,;PMPCB,missense_variant,p.Ala30Val,ENST00000444457,;PMPCB,missense_variant,p.Ala30Val,ENST00000453466,;PMPCB,missense_variant,p.Ala30Val,ENST00000443722,;PMPCB,non_coding_transcript_exon_variant,,ENST00000498530,;	127	28	28	SUCCESS
CDHR3	222256	.	GRCh37	7	105662822	105662822	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	79	187	0	ENST00000317716.9:c.2004T>C	p.Val668=	p.V668=	ENST00000317716	NM_152750.4	668	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS47684.1	2004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTTGAGAC	NONE	.	.	Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF289,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000325954	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000317716	Transcript	.	.	ENSG00000128536	26308	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR3_HUMAN	CDHR3	HGNC	E7EQG5_HUMAN	.	UPI00001C0C6E	SNV	CDHR3,synonymous_variant,p.%3D,ENST00000468477,;CDHR3,synonymous_variant,p.%3D,ENST00000478080,;CDHR3,synonymous_variant,p.%3D,ENST00000317716,;CDHR3,synonymous_variant,p.%3D,ENST00000542731,;CDHR3,intron_variant,,ENST00000343407,;CDHR3,intron_variant,,ENST00000466045,;CDHR3,intron_variant,,ENST00000470188,;	2084	187	176	SUCCESS
ANKRD7	56311	.	GRCh37	7	117876162	117876162	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776876096	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	268	211	423	0	ENST00000265224.4:c.536A>G	p.Glu179Gly	p.E179G	ENST00000265224	NM_019644.3	179	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS43638.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAGAAAG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24152,hmmpanther:PTHR24152:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	.	.	ENSP00000265224	.	4/7	.	.	.	.	.	.	.	.	rs776876096	4/7	PASS	ENST00000265224	Transcript	.	.	ENSG00000106013	18588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.161)	.	deleterious(0.01)	.	ANKR7_HUMAN	ANKRD7	HGNC	Q9UPM1_HUMAN	.	UPI0000E826A8	SNV	ANKRD7,missense_variant,p.Glu126Gly,ENST00000433239,;ANKRD7,missense_variant,p.Glu126Gly,ENST00000417525,;ANKRD7,missense_variant,p.Glu199Gly,ENST00000357099,;ANKRD7,missense_variant,p.Glu179Gly,ENST00000265224,;ANKRD7,downstream_gene_variant,,ENST00000486422,;ANKRD7,non_coding_transcript_exon_variant,,ENST00000477532,;ANKRD7,upstream_gene_variant,,ENST00000490445,;	691	423	479	SUCCESS
ABCB5	340273	.	GRCh37	7	20785063	20785063	+	splice_donor_variant	Splice_Site	SNP	T	T	A	rs373651350	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	35	61	0	ENST00000404938.2:c.3429+2T>A		p.X1143_splice	ENST00000404938	NM_001163941.1	1143		0	C:0	.	.	.	.	A	.	protein_coding	YES	CCDS55090.1	.	RADIA|MUTECT|MUSE	.	TGAGGTAAGAA	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000384881	.	.	.	.	.	.	.	.	.	.	rs373651350	.	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	HIGH	26/27	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,splice_donor_variant,,ENST00000258738,;ABCB5,splice_donor_variant,,ENST00000404938,;ABCB5,splice_donor_variant,,ENST00000441315,;	.	61	69	SUCCESS
PDE1C	5137	.	GRCh37	7	31918700	31918700	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs964367849	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	39	0	ENST00000321453.7:c.334C>T	p.Arg112Trp	p.R112W	ENST00000321453	NM_001191059.1	112	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS55100.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGCGTGA	NONE	.	.	hmmpanther:PTHR11347:SF32,hmmpanther:PTHR11347,Pfam_domain:PF08499	.	.	ENSP00000379496	.	5/19	.	.	.	.	.	.	.	.	COSM1329853,COSM1329852,COSM1329851	5/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Arg112Trp,ENST00000396184,;PDE1C,missense_variant,p.Arg172Trp,ENST00000396193,;PDE1C,missense_variant,p.Arg112Trp,ENST00000396191,;PDE1C,missense_variant,p.Arg112Trp,ENST00000321453,;PDE1C,missense_variant,p.Arg112Trp,ENST00000396182,;PDE1C,downstream_gene_variant,,ENST00000396189,;PDE1C,non_coding_transcript_exon_variant,,ENST00000464881,;PDE1C,non_coding_transcript_exon_variant,,ENST00000482681,;	1108	39	40	SUCCESS
ASAH1	427	.	GRCh37	8	17921966	17921967	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	T	rs768342020	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	65	0	ENST00000262097.6:c.456dup	p.Gly153ArgfsTer21	p.G153Rfs*21	ENST00000262097	NM_177924.3	152	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS6005.1	504-505	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTACCTTTTT	NONE	.	.	Pfam_domain:PF02275,Gene3D:2quyA00,PIRSF_domain:PIRSF017632	.	.	ENSP00000371152	.	6/14	.	.	.	.	.	.	.	.	rs773782660	6/14	PASS	ENST00000381733	Transcript	1	.	ENSG00000104763	735	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASAH1_HUMAN	ASAH1	HGNC	B1B5R9_HUMAN,B1B5Q0_HUMAN,B1B5P7_HUMAN,B1B5P6_HUMAN	.	UPI0000210A34	insertion	ASAH1,frameshift_variant,p.Gly147ArgfsTer21,ENST00000314146,;ASAH1,frameshift_variant,p.Gly153ArgfsTer21,ENST00000262097,;ASAH1,frameshift_variant,p.Gly169ArgfsTer21,ENST00000381733,;ASAH1,intron_variant,,ENST00000520781,;ASAH1,intron_variant,,ENST00000417108,;ASAH1,splice_region_variant,,ENST00000523593,;ASAH1,splice_region_variant,,ENST00000519545,;ASAH1,intron_variant,,ENST00000519468,;ASAH1,splice_region_variant,,ENST00000523744,;ASAH1,upstream_gene_variant,,ENST00000521542,;ASAH1,upstream_gene_variant,,ENST00000518746,;ASAH1,upstream_gene_variant,,ENST00000517409,;ASAH1,downstream_gene_variant,,ENST00000518087,;	671-672	65	59	SUCCESS
KCNU1	157855	.	GRCh37	8	36788612	36788612	+	synonymous_variant	Silent	SNP	G	G	T	rs769435361	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	138	0	ENST00000399881.3:c.2880G>T	p.Arg960=	p.R960=	ENST00000399881	NM_001031836.2	960	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS55220.1	2880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCGGTGTAA	NONE	.	.	hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,synonymous_variant,p.%3D,ENST00000399881,;KCNU1,3_prime_UTR_variant,,ENST00000518904,;KCNU1,3_prime_UTR_variant,,ENST00000522372,;	2917	138	138	SUCCESS
ACTL7A	10881	.	GRCh37	9	111625276	111625276	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs112558776	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	42	0	ENST00000333999.3:c.674A>G	p.Tyr225Cys	p.Y225C	ENST00000333999	NM_006687.2	225	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6772.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTACGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11937:SF167,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000334300	.	1/1	.	.	.	.	.	.	.	.	rs112558776	1/1	PASS	ENST00000333999	Transcript	.	.	ENSG00000187003	161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.03)	.	ACL7A_HUMAN	ACTL7A	HGNC	.	.	UPI0000125052	SNV	ACTL7A,missense_variant,p.Tyr225Cys,ENST00000333999,;IKBKAP,downstream_gene_variant,,ENST00000374647,;IKBKAP,downstream_gene_variant,,ENST00000495759,;	674	42	46	SUCCESS
TRMT10B	158234	.	GRCh37	9	37762014	37762014	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1420209068	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	58	135	0	ENST00000297994.3:c.86A>C	p.Glu29Ala	p.E29A	ENST00000297994	NM_144964.2	29	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS43804.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGAAGATG	NONE	.	.	hmmpanther:PTHR13563:SF10,hmmpanther:PTHR13563	.	.	ENSP00000297994	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000297994	Transcript	.	.	ENSG00000165275	26454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.1)	.	TM10B_HUMAN	TRMT10B	HGNC	.	.	UPI000013E47D	SNV	TRMT10B,missense_variant,p.Glu29Ala,ENST00000377753,;TRMT10B,missense_variant,p.Glu29Ala,ENST00000537911,;TRMT10B,missense_variant,p.Glu29Ala,ENST00000297994,;TRMT10B,5_prime_UTR_variant,,ENST00000377754,;TRMT10B,missense_variant,p.Glu29Ala,ENST00000538370,;TRMT10B,missense_variant,p.Glu29Ala,ENST00000488673,;TRMT10B,missense_variant,p.Glu29Ala,ENST00000540616,;TRMT10B,missense_variant,p.Glu29Ala,ENST00000537016,;RP11-613M10.9,intron_variant,,ENST00000540557,;EXOSC3,downstream_gene_variant,,ENST00000465229,;	151	135	131	SUCCESS
KIAA2026	158358	.	GRCh37	9	5968170	5968170	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	35	84	0	ENST00000399933.3:c.2061G>T	p.Lys687Asn	p.K687N	ENST00000399933	NM_001017969.2	687	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	.	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCTTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	.	.	ENSP00000382815	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000399933	Transcript	.	.	ENSG00000183354	23378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	K2026_HUMAN	KIAA2026	HGNC	.	.	UPI0001533DB0	SNV	KIAA2026,missense_variant,p.Lys687Asn,ENST00000381461,;KIAA2026,missense_variant,p.Lys687Asn,ENST00000399933,;KIAA2026,downstream_gene_variant,,ENST00000513355,;KIAA2026,upstream_gene_variant,,ENST00000540714,;	2061	84	74	SUCCESS
RORB	6096	.	GRCh37	9	77286750	77286752	+	inframe_deletion	In_Frame_Del	DEL	AAA	AAA	-	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	AAA	AAA	.	.	.	.	.	.	.	.	.	.	.	.	.	150	115	234	0	ENST00000396204.2:c.1193_1195del	p.Lys398del	p.K398del	ENST00000396204		397	gAAAaa/gaa	0	.	.	.	.	.	-	EK/E	protein_coding	YES	CCDS6646.1	1157-1159	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCAGGAAAAAATT	NONE	.	.	Superfamily_domains:SSF48508,SMART_domains:SM00430,Pfam_domain:PF00104,Gene3D:1.10.565.10,hmmpanther:PTHR24082:SF206,hmmpanther:PTHR24082	.	.	ENSP00000366093	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000376896	Transcript	.	.	ENSG00000198963	10259	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RORB_HUMAN	RORB	HGNC	Q58EY0_HUMAN	.	UPI000015FD94	deletion	RORB,inframe_deletion,p.Lys398del,ENST00000396204,;RORB,inframe_deletion,p.Lys387del,ENST00000376896,;	1769-1771	234	265	SUCCESS
NOX1	27035	.	GRCh37	X	100104411	100104411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	57	123	0	ENST00000372966.3:c.1301A>G	p.Tyr434Cys	p.Y434C	ENST00000372966	NM_001271815.1	434	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14474.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATAGATC	NONE	.	.	hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	.	.	ENSP00000362057	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000372966	Transcript	.	.	ENSG00000007952	7889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOX1_HUMAN	NOX1	HGNC	.	.	UPI00001303C1	SNV	NOX1,missense_variant,p.Tyr119Cys,ENST00000427768,;NOX1,missense_variant,p.Tyr397Cys,ENST00000372960,;NOX1,missense_variant,p.Tyr434Cys,ENST00000372966,;NOX1,intron_variant,,ENST00000372964,;NOX1,intron_variant,,ENST00000217885,;	1507	123	126	SUCCESS
RAB33A	9363	.	GRCh37	X	129306277	129306277	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	57	0	ENST00000257017.4:c.241G>T	p.Glu81Ter	p.E81*	ENST00000257017	NM_004794.2	81	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14621.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCGAGGGC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF326,hmmpanther:PTHR24073,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000257017	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000257017	Transcript	.	.	ENSG00000134594	9773	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB33A_HUMAN	RAB33A	HGNC	.	.	UPI000000126B	SNV	RAB33A,stop_gained,p.Glu81Ter,ENST00000257017,;	655	57	45	SUCCESS
CNGA2	1260	.	GRCh37	X	150912332	150912332	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755787323	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	36	70	1	ENST00000329903.4:c.1357C>T	p.Arg453Cys	p.R453C	ENST00000329903	NM_005140.1	453	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS14701.1	1357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGCGCATC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF389,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000328478	.	6/6	.	.	.	.	.	.	.	.	rs755787323,COSM1582817,COSM611594	6/6	PASS	ENST00000329903	Transcript	.	.	ENSG00000183862	2149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.027)	.	deleterious(0.02)	0,1,1	CNGA2_HUMAN	CNGA2	HGNC	.	.	UPI000003E7AE	SNV	CNGA2,missense_variant,p.Arg453Cys,ENST00000329903,;	1390	71	110	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20181160	20181160	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	102	199	0	ENST00000379565.3:c.1765-2A>T		p.X589_splice	ENST00000379565	NM_004586.2	589		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14197.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCTAGAAA	NONE	.	.	.	.	.	ENSP00000368884	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	18/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,splice_acceptor_variant,,ENST00000379548,;RPS6KA3,splice_acceptor_variant,,ENST00000379565,;RPS6KA3,splice_acceptor_variant,,ENST00000540702,;RPS6KA3,splice_acceptor_variant,,ENST00000544447,;RPS6KA3,splice_acceptor_variant,,ENST00000479809,;	.	199	203	SUCCESS
TFE3	7030	.	GRCh37	X	48888982	48888982	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	36	74	0	ENST00000315869.7:c.1214G>A	p.Arg405His	p.R405H	ENST00000315869	NM_006521.4	405	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14315.3	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCGCTGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10014:SF37,hmmpanther:PTHR10014,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000314129	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000315869	Transcript	.	.	ENSG00000068323	11752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	deleterious(0.01)	.	TFE3_HUMAN	TFE3	HGNC	B4DIA5_HUMAN	.	UPI0000117AE8	SNV	TFE3,missense_variant,p.Arg405His,ENST00000315869,;TFE3,non_coding_transcript_exon_variant,,ENST00000487451,;TFE3,3_prime_UTR_variant,,ENST00000493583,;TFE3,non_coding_transcript_exon_variant,,ENST00000495940,;	1474	74	68	SUCCESS
ZXDB	158586	.	GRCh37	X	57618538	57618538	+	synonymous_variant	Silent	SNP	C	C	T	rs1569405113	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	38	0	ENST00000374888.1:c.57C>T	p.Gly19=	p.G19=	ENST00000374888	NM_007157.3	19	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS35313.1	57	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGGTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF72,hmmpanther:PTHR19818	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	SNV	ZXDB,synonymous_variant,p.%3D,ENST00000374888,;	270	38	40	SUCCESS
NLGN3	54413	.	GRCh37	X	70387139	70387139	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	75	170	0	ENST00000358741.3:c.1192A>C	p.Asn398His	p.N398H	ENST00000358741	NM_181303.1	398	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS55441.1	1192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAACTAT	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF145,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000351591	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000358741	Transcript	.	.	ENSG00000196338	14289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	NLGN3_HUMAN	NLGN3	HGNC	.	.	UPI000006FCBB	SNV	NLGN3,missense_variant,p.Asn398His,ENST00000358741,;NLGN3,missense_variant,p.Asn378His,ENST00000374051,;NLGN3,missense_variant,p.Asn358His,ENST00000395855,;NLGN3,missense_variant,p.Asn358His,ENST00000536169,;NLGN3,non_coding_transcript_exon_variant,,ENST00000476589,;	1495	170	157	SUCCESS
OTOG	340990	.	GRCh37	11	17631697	17631697	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1341516170	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	33	0	ENST00000399391.2:c.4886C>T	p.Thr1629Ile	p.T1629I	ENST00000399391	NM_001277269.1	1629	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS59225.1	4886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACCAAGG	NONE	.	.	hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339	.	.	ENSP00000382323	.	35/55	.	.	.	.	.	.	.	.	.	35/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,missense_variant,p.Thr1556Ile,ENST00000399397,;OTOG,missense_variant,p.Thr635Ile,ENST00000342528,;OTOG,missense_variant,p.Thr1629Ile,ENST00000399391,;	4886	33	39	SUCCESS
OR51V1	283111	.	GRCh37	11	5221116	5221116	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774588813	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	32	0	ENST00000321255.1:c.815G>A	p.Arg272His	p.R272H	ENST00000321255	NM_001004760.2	272	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS31375.1	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAACGGTGC	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF67,hmmpanther:PTHR26450,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000321729	.	1/1	.	.	.	.	.	.	.	.	rs774588813	1/1	PASS	ENST00000321255	Transcript	.	.	ENSG00000176742	19597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	deleterious(0.01)	.	O51V1_HUMAN	OR51V1	HGNC	.	.	UPI0000140ADA	SNV	OR51V1,missense_variant,p.Arg272His,ENST00000321255,;	815	32	74	SUCCESS
DRAP1	10589	.	GRCh37	11	65687843	65687843	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	31	0	ENST00000312515.2:c.239T>G	p.Phe80Cys	p.F80C	ENST00000312515	NM_006442.3	80	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS8123.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTTTGACT	NONE	.	.	hmmpanther:PTHR10252:SF5,hmmpanther:PTHR10252,Superfamily_domains:SSF47113	.	.	ENSP00000307850	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000312515	Transcript	.	.	ENSG00000175550	3019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	NC2A_HUMAN	DRAP1	HGNC	E9PQX9_HUMAN	.	UPI00000725D1	SNV	DRAP1,missense_variant,p.Phe80Cys,ENST00000376991,;DRAP1,missense_variant,p.Phe60Cys,ENST00000532933,;DRAP1,missense_variant,p.Phe36Cys,ENST00000527119,;DRAP1,missense_variant,p.Phe80Cys,ENST00000312515,;DRAP1,intron_variant,,ENST00000525501,;C11orf68,upstream_gene_variant,,ENST00000449692,;C11orf68,upstream_gene_variant,,ENST00000530188,;C11orf68,upstream_gene_variant,,ENST00000438576,;DRAP1,non_coding_transcript_exon_variant,,ENST00000534333,;DRAP1,non_coding_transcript_exon_variant,,ENST00000531121,;DRAP1,non_coding_transcript_exon_variant,,ENST00000530791,;DRAP1,upstream_gene_variant,,ENST00000525190,;	484	31	39	SUCCESS
ERBB3	2065	.	GRCh37	12	56495713	56495713	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750286654	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	37	0	ENST00000267101.3:c.3903G>T	p.Gln1301His	p.Q1301H	ENST00000267101	NM_001982.3	1301	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS31833.1	3903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAGGCCCC	NONE	.	.	PIRSF_domain:PIRSF000619	.	.	ENSP00000267101	.	28/28	.	.	.	.	.	.	.	.	rs750286654	28/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.23)	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,missense_variant,p.Gln1242His,ENST00000415288,;ERBB3,missense_variant,p.Gln658His,ENST00000450146,;ERBB3,missense_variant,p.Gln1301His,ENST00000267101,;ERBB3,missense_variant,p.Gln608His,ENST00000550070,;ERBB3,missense_variant,p.Gln542His,ENST00000553131,;ERBB3,missense_variant,p.Gln421His,ENST00000549832,;RP11-603J24.9,intron_variant,,ENST00000548861,;PA2G4,upstream_gene_variant,,ENST00000552766,;PA2G4,upstream_gene_variant,,ENST00000551061,;PA2G4,upstream_gene_variant,,ENST00000303305,;PA2G4,upstream_gene_variant,,ENST00000553057,;RP11-603J24.17,downstream_gene_variant,,ENST00000548595,;ERBB3,3_prime_UTR_variant,,ENST00000551085,;ERBB3,3_prime_UTR_variant,,ENST00000551242,;PA2G4,upstream_gene_variant,,ENST00000550166,;ERBB3,downstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000552691,;	4343	37	49	SUCCESS
SRGAP1	57522	.	GRCh37	12	64437335	64437335	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	37	98	0	ENST00000355086.3:c.781G>A	p.Asp261Asn	p.D261N	ENST00000355086	NM_020762.2	261	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8967.1	781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATGATCTT	NONE	.	.	hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Superfamily_domains:SSF103657	.	.	ENSP00000347198	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000355086	Transcript	.	.	ENSG00000196935	17382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	SRGP1_HUMAN	SRGAP1	HGNC	.	.	UPI00001A9CB9	SNV	SRGAP1,missense_variant,p.Asp221Asn,ENST00000543397,;SRGAP1,missense_variant,p.Asp261Asn,ENST00000357825,;SRGAP1,missense_variant,p.Asp261Asn,ENST00000355086,;RP11-196H14.2,intron_variant,,ENST00000535594,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000542381,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537556,;	1305	98	203	SUCCESS
SUPT20H	55578	.	GRCh37	13	37583904	37583904	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766826291	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	9	184	0	ENST00000350612.6:c.2245G>A	p.Ala749Thr	p.A749T	ENST00000350612	NM_001014286.2	749	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31959.1	2245	MUTECT|MUSE	.	TGCTGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3	.	.	ENSP00000218894	.	26/26	.	.	.	.	.	.	.	.	rs766826291	26/26	PASS	ENST00000350612	Transcript	.	.	ENSG00000102710	20596	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.15)	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,missense_variant,p.Ser715Asn,ENST00000360252,;SUPT20H,missense_variant,p.Ser715Asn,ENST00000356185,;SUPT20H,missense_variant,p.Ala348Thr,ENST00000469488,;SUPT20H,missense_variant,p.Ala749Thr,ENST00000350612,;SUPT20H,missense_variant,p.Ser715Asn,ENST00000464744,;SUPT20H,missense_variant,p.Ser793Asn,ENST00000475892,;EXOSC8,downstream_gene_variant,,ENST00000389704,;EXOSC8,downstream_gene_variant,,ENST00000481013,;EXOSC8,downstream_gene_variant,,ENST00000489088,;EXOSC8,downstream_gene_variant,,ENST00000488779,;EXOSC8,downstream_gene_variant,,ENST00000474661,;EXOSC8,downstream_gene_variant,,ENST00000464235,;SUPT20H,3_prime_UTR_variant,,ENST00000490716,;SUPT20H,3_prime_UTR_variant,,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000473871,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000484078,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000472948,;EXOSC8,downstream_gene_variant,,ENST00000490537,;EXOSC8,downstream_gene_variant,,ENST00000495092,;EXOSC8,downstream_gene_variant,,ENST00000239893,;	2466	184	209	SUCCESS
NIN	51199	.	GRCh37	14	51196346	51196346	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	53	111	0	ENST00000382041.3:c.5973G>T	p.Arg1991Ser	p.R1991S	ENST00000382041	NM_016350.4	1991	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS32079.1	5973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCCTGGG	NONE	.	.	.	.	.	ENSP00000371472	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.09)	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,missense_variant,p.Arg1991Ser,ENST00000245441,;NIN,missense_variant,p.Arg1991Ser,ENST00000382041,;NIN,missense_variant,p.Arg1482Ser,ENST00000389869,;NIN,missense_variant,p.Arg1482Ser,ENST00000530853,;NIN,missense_variant,p.Arg1278Ser,ENST00000382043,;NIN,missense_variant,p.Arg1991Ser,ENST00000453196,;NIN,missense_variant,p.Arg1991Ser,ENST00000530997,;NIN,3_prime_UTR_variant,,ENST00000389868,;NIN,3_prime_UTR_variant,,ENST00000324330,;NIN,3_prime_UTR_variant,,ENST00000476352,;NIN,3_prime_UTR_variant,,ENST00000485005,;NIN,upstream_gene_variant,,ENST00000555984,;	6164	111	101	SUCCESS
HSPA2	3306	.	GRCh37	14	65007431	65007431	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	7	14	0	ENST00000247207.6:c.-137A>C		p.*46*	ENST00000247207	NM_021979.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9766.1	.	MUTECT|MUSE	.	GCTATAAGAAC	NONE	.	.	.	.	.	ENSP00000247207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247207	Transcript	.	.	ENSG00000126803	5235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HSP72_HUMAN	HSPA2	HGNC	.	.	UPI000012CC6A	SNV	HSPA2,5_prime_UTR_variant,,ENST00000247207,;HSPA2,intron_variant,,ENST00000394709,;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,upstream_gene_variant,,ENST00000554883,;RP11-973N13.5,upstream_gene_variant,,ENST00000555669,;	246	14	9	SUCCESS
PRIMA1	145270	.	GRCh37	14	94245606	94245606	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	20	0	ENST00000393140.1:c.145C>T	p.Arg49Ter	p.R49*	ENST00000393140	NM_178013.3	49	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS9912.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCGGCAGC	NONE	.	.	hmmpanther:PTHR10579:SF46,hmmpanther:PTHR10579	.	.	ENSP00000376848	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000393140	Transcript	.	.	ENSG00000175785	18319	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRIMA_HUMAN	PRIMA1	HGNC	.	.	UPI0000051D0A	SNV	PRIMA1,stop_gained,p.Arg49Ter,ENST00000393143,;PRIMA1,stop_gained,p.Arg49Ter,ENST00000316227,;PRIMA1,stop_gained,p.Arg49Ter,ENST00000393140,;PRIMA1,stop_gained,p.Arg49Ter,ENST00000477603,;	248	20	25	SUCCESS
AKAP13	11214	.	GRCh37	15	86124170	86124170	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	56	0	ENST00000394518.2:c.2871A>T	p.Gly957=	p.G957=	ENST00000394518	NM_007200.4	957	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32320.1	2871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACAAGA	NONE	.	.	hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	7/37	.	.	.	.	.	.	.	.	.	7/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,synonymous_variant,p.%3D,ENST00000394518,;AKAP13,synonymous_variant,p.%3D,ENST00000559362,;AKAP13,synonymous_variant,p.%3D,ENST00000361243,;AKAP13,downstream_gene_variant,,ENST00000558166,;AKAP13,downstream_gene_variant,,ENST00000558811,;RP11-815J21.2,upstream_gene_variant,,ENST00000561409,;AKAP13,upstream_gene_variant,,ENST00000560340,;AKAP13,upstream_gene_variant,,ENST00000561337,;	2952	56	51	SUCCESS
AKAP13	11214	.	GRCh37	15	86124171	86124171	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	57	0	ENST00000394518.2:c.2872C>T	p.Gln958Ter	p.Q958*	ENST00000394518	NM_007200.4	958	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32320.1	2872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACAAGAT	NONE	.	.	hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	7/37	.	.	.	.	.	.	.	.	.	7/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,stop_gained,p.Gln958Ter,ENST00000394518,;AKAP13,stop_gained,p.Gln958Ter,ENST00000559362,;AKAP13,stop_gained,p.Gln958Ter,ENST00000361243,;AKAP13,downstream_gene_variant,,ENST00000558166,;AKAP13,downstream_gene_variant,,ENST00000558811,;RP11-815J21.2,upstream_gene_variant,,ENST00000561409,;AKAP13,upstream_gene_variant,,ENST00000560340,;AKAP13,upstream_gene_variant,,ENST00000561337,;	2953	57	52	SUCCESS
ABCA3	21	.	GRCh37	16	2369767	2369767	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199567944	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	55	0	ENST00000301732.5:c.688G>A	p.Ala230Thr	p.A230T	ENST00000301732	NM_001089.2	230	Gcc/Acc	0	.	T:0.0008	.	T:0	.	T	A/T	protein_coding	YES	CCDS10466.1	688	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCGGCAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98	T:0	.	ENSP00000301732	T:0	8/33	.	.	.	.	.	.	.	.	rs199567944	8/33	PASS	ENST00000301732	Transcript	.	T:0.0002	ENSG00000167972	33	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	T:0	tolerated(0.22)	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,missense_variant,p.Ala230Thr,ENST00000382381,;ABCA3,missense_variant,p.Ala230Thr,ENST00000301732,;ABCA3,downstream_gene_variant,,ENST00000567910,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	1389	55	77	SUCCESS
FAM92B	0	.	GRCh37	16	85133752	85133752	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	25	0	ENST00000539556.1:c.746C>T	p.Ala249Val	p.A249V	ENST00000539556	NM_198491.1	249	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32500.1	746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGCGAGA	NONE	.	.	hmmpanther:PTHR21223:SF3,hmmpanther:PTHR21223	.	.	ENSP00000443411	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000539556	Transcript	.	.	ENSG00000153789	24781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.01)	.	FA92B_HUMAN	FAM92B	HGNC	.	.	UPI00001C0C61	SNV	FAM92B,missense_variant,p.Ala249Val,ENST00000539556,;	902	25	34	SUCCESS
ZNF778	197320	.	GRCh37	16	89293980	89293980	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	38	0	ENST00000433976.2:c.1200G>T	p.Lys400Asn	p.K400N	ENST00000433976	NM_001201407.1	400	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS45550.1	1200	MUTECT|MUSE	.	GGGAAGGCCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF116,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000405289	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000433976	Transcript	.	.	ENSG00000170100	26479	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.881)	.	deleterious(0)	.	ZN778_HUMAN	ZNF778	HGNC	H3BUU4_HUMAN	.	UPI00001B6521	SNV	ZNF778,missense_variant,p.Lys400Asn,ENST00000433976,;ZNF778,missense_variant,p.Lys358Asn,ENST00000306502,;ZNF778,downstream_gene_variant,,ENST00000564906,;RP11-46C24.6,intron_variant,,ENST00000563182,;ZNF778,3_prime_UTR_variant,,ENST00000567651,;ZNF778,downstream_gene_variant,,ENST00000565414,;	1532	38	56	SUCCESS
P2RX1	5023	.	GRCh37	17	3806509	3806509	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	32	0	ENST00000225538.3:c.734C>A	p.Thr245Asn	p.T245N	ENST00000225538	NM_002558.3	245	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS11040.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGTGCTG	NONE	.	.	hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF9,TIGRFAM_domain:TIGR00863,Gene3D:3h9vA02,Pfam_domain:PF00864,Prints_domain:PR01307	.	.	ENSP00000225538	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000225538	Transcript	.	.	ENSG00000108405	8533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.06)	.	P2RX1_HUMAN	P2RX1	HGNC	Q71UK3_HUMAN,Q6PIW1_HUMAN,K4JYE8_HUMAN,D3DTJ7_HUMAN	.	UPI000000DAAB	SNV	P2RX1,missense_variant,p.Thr245Asn,ENST00000225538,;P2RX1,non_coding_transcript_exon_variant,,ENST00000572418,;P2RX1,downstream_gene_variant,,ENST00000571637,;P2RX1,downstream_gene_variant,,ENST00000576764,;	1009	32	21	SUCCESS
GABARAP	11337	.	GRCh37	17	7145726	7145726	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	28	0	ENST00000302386.5:c.-77C>T		p.*26*	ENST00000302386	NM_007278.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11092.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCGGCGAC	NONE	.	.	.	.	.	ENSP00000306866	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000302386	Transcript	.	.	ENSG00000170296	4067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRAP_HUMAN	GABARAP	HGNC	Q6IAW1_HUMAN,I3L236_HUMAN	.	UPI00000215FE	SNV	GABARAP,5_prime_UTR_variant,,ENST00000302386,;GABARAP,5_prime_UTR_variant,,ENST00000573928,;PHF23,upstream_gene_variant,,ENST00000454255,;GABARAP,upstream_gene_variant,,ENST00000571129,;PHF23,upstream_gene_variant,,ENST00000570899,;CTDNEP1,downstream_gene_variant,,ENST00000576613,;PHF23,upstream_gene_variant,,ENST00000572789,;PHF23,upstream_gene_variant,,ENST00000574323,;CTDNEP1,downstream_gene_variant,,ENST00000575783,;GABARAP,upstream_gene_variant,,ENST00000571253,;PHF23,upstream_gene_variant,,ENST00000574236,;CTDNEP1,downstream_gene_variant,,ENST00000574322,;PHF23,upstream_gene_variant,,ENST00000573826,;CTDNEP1,downstream_gene_variant,,ENST00000572043,;PHF23,upstream_gene_variant,,ENST00000320316,;GABARAP,upstream_gene_variant,,ENST00000577035,;CTDNEP1,downstream_gene_variant,,ENST00000571409,;CTDNEP1,downstream_gene_variant,,ENST00000573600,;CTDNEP1,downstream_gene_variant,,ENST00000318988,;CTDNEP1,downstream_gene_variant,,ENST00000570828,;PHF23,upstream_gene_variant,,ENST00000571362,;PHF23,upstream_gene_variant,,ENST00000576955,;PHF23,upstream_gene_variant,,ENST00000574407,;PHF23,upstream_gene_variant,,ENST00000570753,;PHF23,upstream_gene_variant,,ENST00000574899,;CTD-2545G14.7,intron_variant,,ENST00000570760,;RP1-4G17.5,downstream_gene_variant,,ENST00000577138,;CTDNEP1,downstream_gene_variant,,ENST00000570385,;CTDNEP1,downstream_gene_variant,,ENST00000574205,;CTDNEP1,downstream_gene_variant,,ENST00000570484,;CTDNEP1,downstream_gene_variant,,ENST00000570380,;GABARAP,upstream_gene_variant,,ENST00000570856,;	364	28	19	SUCCESS
CTIF	9811	.	GRCh37	18	46163025	46163025	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs141933283	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	83	0	ENST00000256413.3:c.221C>G	p.Ser74Cys	p.S74C	ENST00000256413	NM_014772.2	74	tCc/tGc	0	T:0.0002	T:0.0008	.	T:0	.	G	S/C	protein_coding	YES	CCDS45864.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCCTTCT	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000372459	T:0	4/13	.	.	.	.	.	.	.	.	rs141933283	4/13	PASS	ENST00000382998	Transcript	.	T:0.0002	ENSG00000134030	23925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.646)	T:0	tolerated_low_confidence(0.06)	.	CTIF_HUMAN	CTIF	HGNC	K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN	.	UPI0000074650	SNV	CTIF,missense_variant,p.Ser74Cys,ENST00000588345,;CTIF,missense_variant,p.Ser90Cys,ENST00000591412,;CTIF,missense_variant,p.Ser74Cys,ENST00000382998,;CTIF,missense_variant,p.Ser74Cys,ENST00000587752,;CTIF,missense_variant,p.Ser74Cys,ENST00000256413,;CTIF,missense_variant,p.Ser74Cys,ENST00000591387,;CTIF,non_coding_transcript_exon_variant,,ENST00000589585,;	478	83	79	SUCCESS
CTIF	9811	.	GRCh37	18	46163026	46163026	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	32	81	0	ENST00000256413.3:c.222C>A	p.Ser74=	p.S74=	ENST00000256413	NM_014772.2	74	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45864.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCTTCTC	NONE	.	.	.	.	.	ENSP00000372459	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000382998	Transcript	.	.	ENSG00000134030	23925	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTIF_HUMAN	CTIF	HGNC	K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN	.	UPI0000074650	SNV	CTIF,synonymous_variant,p.%3D,ENST00000588345,;CTIF,synonymous_variant,p.%3D,ENST00000591412,;CTIF,synonymous_variant,p.%3D,ENST00000382998,;CTIF,synonymous_variant,p.%3D,ENST00000587752,;CTIF,synonymous_variant,p.%3D,ENST00000256413,;CTIF,synonymous_variant,p.%3D,ENST00000591387,;CTIF,non_coding_transcript_exon_variant,,ENST00000589585,;	479	81	79	SUCCESS
KLF1	10661	.	GRCh37	19	12996687	12996687	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	29	0	ENST00000264834.4:c.357C>T	p.Gly119=	p.G119=	ENST00000264834	NM_006563.3	119	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12285.1	357	RADIA|MUSE	.	CCCGGGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF135	.	.	ENSP00000264834	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000264834	Transcript	1	.	ENSG00000105610	6345	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLF1_HUMAN	KLF1	HGNC	B9UZC3_HUMAN	.	UPI000012DED2	SNV	KLF1,synonymous_variant,p.%3D,ENST00000264834,;DNASE2,upstream_gene_variant,,ENST00000538460,;DNASE2,upstream_gene_variant,,ENST00000592506,;DNASE2,upstream_gene_variant,,ENST00000222219,;CTD-2265O21.7,downstream_gene_variant,,ENST00000592400,;	398	29	29	SUCCESS
ZNF550	162972	.	GRCh37	19	58067687	58067687	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	55	0	ENST00000325134.5:c.66C>G	p.Thr22=	p.T22=	ENST00000325134		22	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	.	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGGGTAAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF140,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000422344	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000506609	Transcript	.	.	ENSG00000251369	28643	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN550_HUMAN	ZNF550	HGNC	.	.	UPI000006EACB	SNV	ZNF550,synonymous_variant,p.%3D,ENST00000506609,;ZNF550,synonymous_variant,p.%3D,ENST00000457177,;ZNF550,synonymous_variant,p.%3D,ENST00000325134,;ZNF550,synonymous_variant,p.%3D,ENST00000601415,;ZNF549,3_prime_UTR_variant,,ENST00000602149,;ZNF549,downstream_gene_variant,,ENST00000594943,;ZNF550,synonymous_variant,p.%3D,ENST00000447310,;ZNF550,synonymous_variant,p.%3D,ENST00000376230,;ZNF550,non_coding_transcript_exon_variant,,ENST00000595560,;	42	55	77	SUCCESS
DEFB116	245930	.	GRCh37	20	29891217	29891217	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	24	97	1	ENST00000400549.1:c.107C>G	p.Pro36Arg	p.P36R	ENST00000400549	NM_001037731.1	36	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS42860.1	107	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGGCTCT	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF17	.	.	ENSP00000383396	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400549	Transcript	.	.	ENSG00000215545	18097	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.149)	.	tolerated(0.23)	.	DB116_HUMAN	DEFB116	HGNC	.	.	UPI00005E443B	SNV	DEFB116,missense_variant,p.Pro36Arg,ENST00000400549,;	107	98	144	SUCCESS
MCM8	84515	.	GRCh37	20	5935894	5935894	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	36	71	0	ENST00000378896.3:c.483T>A	p.His161Gln	p.H161Q	ENST00000378896	NM_001281520.1	161	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS13094.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACATCAGGT	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF47,Pfam_domain:PF14551,Superfamily_domains:SSF50249	.	.	ENSP00000368174	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000378896	Transcript	.	.	ENSG00000125885	16147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MCM8_HUMAN	MCM8	HGNC	.	.	UPI000012EDA1	SNV	MCM8,missense_variant,p.His161Gln,ENST00000378883,;MCM8,missense_variant,p.His161Gln,ENST00000378896,;MCM8,missense_variant,p.His161Gln,ENST00000265187,;MCM8,missense_variant,p.His161Gln,ENST00000378886,;TRMT6,upstream_gene_variant,,ENST00000203001,;TRMT6,upstream_gene_variant,,ENST00000453074,;TRMT6,upstream_gene_variant,,ENST00000466974,;TRMT6,upstream_gene_variant,,ENST00000473131,;TRMT6,upstream_gene_variant,,ENST00000493972,;	860	71	47	SUCCESS
GRHL1	29841	.	GRCh37	2	10091937	10091937	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	48	0	ENST00000324907.9:c.-26C>T		p.*9*	ENST00000324907	NM_198182.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33144.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGCGGCCC	NONE	.	.	.	.	.	ENSP00000324693	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000324907	Transcript	.	.	ENSG00000134317	17923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRHL1_HUMAN	GRHL1	HGNC	F8WFB0_HUMAN,C9JYY8_HUMAN	.	UPI00001E0586	SNV	GRHL1,5_prime_UTR_variant,,ENST00000324907,;GRHL1,5_prime_UTR_variant,,ENST00000324883,;GRHL1,intron_variant,,ENST00000405379,;GRHL1,5_prime_UTR_variant,,ENST00000472167,;GRHL1,5_prime_UTR_variant,,ENST00000439493,;GRHL1,5_prime_UTR_variant,,ENST00000464418,;GRHL1,non_coding_transcript_exon_variant,,ENST00000497403,;	111	48	53	SUCCESS
GRHL1	29841	.	GRCh37	2	10091938	10091938	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	48	0	ENST00000324907.9:c.-25G>T		p.*9*	ENST00000324907	NM_198182.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33144.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGGCCCG	NONE	.	.	.	.	.	ENSP00000324693	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000324907	Transcript	.	.	ENSG00000134317	17923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRHL1_HUMAN	GRHL1	HGNC	F8WFB0_HUMAN,C9JYY8_HUMAN	.	UPI00001E0586	SNV	GRHL1,5_prime_UTR_variant,,ENST00000324907,;GRHL1,5_prime_UTR_variant,,ENST00000324883,;GRHL1,intron_variant,,ENST00000405379,;GRHL1,5_prime_UTR_variant,,ENST00000472167,;GRHL1,5_prime_UTR_variant,,ENST00000439493,;GRHL1,5_prime_UTR_variant,,ENST00000464418,;GRHL1,non_coding_transcript_exon_variant,,ENST00000497403,;	112	48	53	SUCCESS
CREG2	200407	.	GRCh37	2	101971822	101971823	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	176	59	115	0	ENST00000324768.5:c.617dup	p.Asn206LysfsTer4	p.N206Kfs*4	ENST00000324768	NM_153836.3	206	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS2052.1	617-618	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGATGTTTTT	NONE	.	.	hmmpanther:PTHR13343:SF15,hmmpanther:PTHR13343,Pfam_domain:PF13883,Gene3D:2.30.110.10,PIRSF_domain:PIRSF036911,Superfamily_domains:SSF50475	.	.	ENSP00000315203	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000324768	Transcript	.	.	ENSG00000175874	14272	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CREG2_HUMAN	CREG2	HGNC	Q580X0_HUMAN,Q4ZFW3_HUMAN	.	UPI0000074776	insertion	CREG2,frameshift_variant,p.Asn206LysfsTer4,ENST00000324768,;	755-756	115	235	SUCCESS
SP110	3431	.	GRCh37	2	231067440	231067440	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	17	133	0	ENST00000358662.4:c.903A>C	p.Thr301=	p.T301=	ENST00000358662	NM_004509.3	301	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2475.1	903	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGTCCC	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46	.	.	ENSP00000258381	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000258381	Transcript	.	.	ENSG00000135899	5401	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SP110_HUMAN	SP110	HGNC	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN	.	UPI000013CFC9	SNV	SP110,splice_acceptor_variant,,ENST00000392048,;SP110,synonymous_variant,p.%3D,ENST00000358662,;SP110,synonymous_variant,p.%3D,ENST00000258381,;SP110,synonymous_variant,p.%3D,ENST00000258382,;SP110,synonymous_variant,p.%3D,ENST00000540870,;SP110,intron_variant,,ENST00000338556,;SP140,upstream_gene_variant,,ENST00000456542,;SP110,downstream_gene_variant,,ENST00000486146,;SP140,upstream_gene_variant,,ENST00000441657,;SP110,non_coding_transcript_exon_variant,,ENST00000490880,;	981	133	141	SUCCESS
BAP1	8314	.	GRCh37	3	52436639	52436640	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	83	0	ENST00000460680.1:c.2034dup	p.Ile679TyrfsTer38	p.I679Yfs*38	ENST00000460680	NM_004656.3	678	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS2853.1	2034-2035	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGATAAAGG	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	insertion	BAP1,frameshift_variant,p.Ile79TyrfsTer38,ENST00000469613,;BAP1,frameshift_variant,p.Ile203TyrfsTer38,ENST00000478368,;BAP1,frameshift_variant,p.Ile661TyrfsTer38,ENST00000296288,;BAP1,frameshift_variant,p.Ile679TyrfsTer38,ENST00000460680,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	2506-2507	83	94	SUCCESS
TBC1D9	23158	.	GRCh37	4	141543809	141543809	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199802386	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	33	0	ENST00000442267.2:c.3341C>T	p.Pro1114Leu	p.P1114L	ENST00000442267	NM_015130.2	1114	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS47136.1	3341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGCAGG	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000411197	A:0	21/21	.	.	.	.	.	.	.	.	rs199802386,COSM1267485,COSM1267484	21/21	PASS	ENST00000442267	Transcript	.	A:0.0002	ENSG00000109436	21710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.022)	A:0.001	tolerated(0.14)	0,1,1	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,missense_variant,p.Pro1114Leu,ENST00000442267,;	3416	33	44	SUCCESS
FNIP2	57600	.	GRCh37	4	159790466	159790466	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763748801	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	33	0	ENST00000264433.6:c.2678C>T	p.Ser893Leu	p.S893L	ENST00000264433	NM_020840.1	893	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS47155.1	2678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCAGATA	NONE	byFrequency	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11	.	.	ENSP00000264433	.	13/17	.	.	.	.	.	.	.	.	rs763748801	13/17	PASS	ENST00000264433	Transcript	.	.	ENSG00000052795	29280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	tolerated(0.07)	.	FNIP2_HUMAN	FNIP2	HGNC	.	.	UPI00001C1E0A	SNV	FNIP2,missense_variant,p.Ser916Leu,ENST00000379346,;FNIP2,missense_variant,p.Ser893Leu,ENST00000264433,;FNIP2,downstream_gene_variant,,ENST00000512986,;FNIP2,upstream_gene_variant,,ENST00000505130,;	2753	33	48	SUCCESS
HTRA3	94031	.	GRCh37	4	8304197	8304197	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	42	0	ENST00000307358.2:c.1059G>A	p.Lys353=	p.K353=	ENST00000307358	NM_053044.3	353	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3400.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAAGCG	NONE	.	.	Gene3D:2.40.10.10,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939	.	.	ENSP00000303766	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000307358	Transcript	.	.	ENSG00000170801	30406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HTRA3_HUMAN	HTRA3	HGNC	.	.	UPI0000001647	SNV	HTRA3,synonymous_variant,p.%3D,ENST00000307358,;	1263	42	70	SUCCESS
PSD2	84249	.	GRCh37	5	139189306	139189306	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142293471	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	65	69	1	ENST00000274710.3:c.281C>T	p.Ala94Val	p.A94V	ENST00000274710	NM_032289.2	94	gCg/gTg	0	T:0	T:0.0008	.	T:0	.	T	A/V	protein_coding	YES	CCDS4216.1	281	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCGGAGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	T:0	T:0.0001	ENSP00000274710	T:0	2/15	.	.	.	.	.	.	.	.	rs142293471	2/15	PASS	ENST00000274710	Transcript	.	T:0.0002	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	T:0	tolerated_low_confidence(0.11)	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Ala94Val,ENST00000274710,;	486	71	132	SUCCESS
RNF14	9604	.	GRCh37	5	141358344	141358344	+	synonymous_variant	Silent	SNP	A	A	G	rs765963956	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	31	0	ENST00000347642.3:c.783A>G	p.Gln261=	p.Q261=	ENST00000347642	NM_183400.2	261	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS4270.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAATGCCT	NONE	byFrequency	.	PROSITE_profiles:PS50089,hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF7,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000378028	.	5/9	.	.	.	.	.	.	.	.	rs765963956	5/9	PASS	ENST00000394520	Transcript	.	.	ENSG00000013561	10058	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF14_HUMAN	RNF14	HGNC	D6RDU6_HUMAN,D6RBU3_HUMAN,D6RAS4_HUMAN,D6RA38_HUMAN,D6R996_HUMAN,D6R988_HUMAN	.	UPI0000134319	SNV	RNF14,synonymous_variant,p.%3D,ENST00000394514,;RNF14,synonymous_variant,p.%3D,ENST00000511961,;RNF14,synonymous_variant,p.%3D,ENST00000356143,;RNF14,synonymous_variant,p.%3D,ENST00000394520,;RNF14,synonymous_variant,p.%3D,ENST00000394519,;RNF14,synonymous_variant,p.%3D,ENST00000347642,;RNF14,intron_variant,,ENST00000394515,;RNF14,intron_variant,,ENST00000512565,;RNF14,intron_variant,,ENST00000540015,;RNF14,downstream_gene_variant,,ENST00000513019,;RNF14,downstream_gene_variant,,ENST00000507291,;RNF14,downstream_gene_variant,,ENST00000506822,;RNF14,downstream_gene_variant,,ENST00000506938,;RNF14,downstream_gene_variant,,ENST00000507163,;AC005740.5,intron_variant,,ENST00000520882,;RNF14,intron_variant,,ENST00000514620,;RNF14,downstream_gene_variant,,ENST00000502341,;RNF14,intron_variant,,ENST00000515613,;	1092	31	47	SUCCESS
GRIA1	2890	.	GRCh37	5	153149816	153149816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	65	0	ENST00000285900.5:c.2111T>C	p.Met704Thr	p.M704T	ENST00000285900	NM_000827.3	704	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS58987.1	2141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGATGATTC	BUFFER|p.M704I|c.2112G>A|3,BUFFER|p.M704I|c.2112G>A|3	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	deleterious(0)	.	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Met624Thr,ENST00000518142,;GRIA1,missense_variant,p.Met714Thr,ENST00000518783,;GRIA1,missense_variant,p.Met635Thr,ENST00000521843,;GRIA1,missense_variant,p.Met704Thr,ENST00000285900,;GRIA1,missense_variant,p.Met714Thr,ENST00000448073,;GRIA1,missense_variant,p.Met704Thr,ENST00000340592,;	2168	65	99	SUCCESS
ZNF366	167465	.	GRCh37	5	71757293	71757293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776968247	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	55	0	ENST00000318442.5:c.31G>A	p.Glu11Lys	p.E11K	ENST00000318442	NM_152625.1	11	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4015.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCGTCTT	NONE	.	.	hmmpanther:PTHR24390:SF38,hmmpanther:PTHR24390	.	.	ENSP00000313158	.	2/5	.	.	.	.	.	.	.	.	rs776968247	2/5	PASS	ENST00000318442	Transcript	.	.	ENSG00000178175	18316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	ZN366_HUMAN	ZNF366	HGNC	F8W732_HUMAN	.	UPI000013C368	SNV	ZNF366,missense_variant,p.Glu11Lys,ENST00000318442,;ZNF366,missense_variant,p.Glu11Lys,ENST00000414109,;ZNF366,missense_variant,p.Glu11Lys,ENST00000514477,;	522	55	69	SUCCESS
CUL9	23113	.	GRCh37	6	43172740	43172740	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	33	0	ENST00000252050.4:c.4519C>G	p.His1507Asp	p.H1507D	ENST00000252050	NM_015089.2	1507	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS4890.1	4519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGCACTTG	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Pfam_domain:PF00888	.	.	ENSP00000252050	.	23/41	.	.	.	.	.	.	.	.	.	23/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0.01)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.His1397Asp,ENST00000354495,;CUL9,missense_variant,p.His1507Asp,ENST00000372647,;CUL9,missense_variant,p.His1507Asp,ENST00000252050,;CUL9,upstream_gene_variant,,ENST00000502937,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000512408,;CUL9,downstream_gene_variant,,ENST00000515344,;CUL9,upstream_gene_variant,,ENST00000504485,;CUL9,upstream_gene_variant,,ENST00000505172,;CUL9,upstream_gene_variant,,ENST00000502719,;	4603	33	48	SUCCESS
RADIL	55698	.	GRCh37	7	4917455	4917455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	22	0	ENST00000399583.3:c.316C>A	p.Gln106Lys	p.Q106K	ENST00000399583	NM_018059.4	106	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS43544.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGCCTGG	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000382492	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000399583	Transcript	.	.	ENSG00000157927	22226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.79)	.	RADIL_HUMAN	RADIL	HGNC	F5H6X3_HUMAN,C9J7G0_HUMAN	.	UPI0000E0A787	SNV	RADIL,missense_variant,p.Gln106Lys,ENST00000457174,;RADIL,missense_variant,p.Gln106Lys,ENST00000399583,;RADIL,missense_variant,p.Gln106Lys,ENST00000536091,;RADIL,missense_variant,p.Gln106Lys,ENST00000445392,;	504	22	33	SUCCESS
KCNS2	3788	.	GRCh37	8	99440423	99440423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	35	0	ENST00000287042.4:c.216C>A	p.Asp72Glu	p.D72E	ENST00000287042	NM_020697.2	72	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS6279.1	216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGACCGCAA	NONE	.	.	Prints_domain:PR01491,Prints_domain:PR01494,Prints_domain:PR00169,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60	.	.	ENSP00000287042	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000287042	Transcript	.	.	ENSG00000156486	6301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	KCNS2_HUMAN	KCNS2	HGNC	.	.	UPI0000001653	SNV	KCNS2,missense_variant,p.Asp72Glu,ENST00000287042,;KCNS2,missense_variant,p.Asp72Glu,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	566	35	46	SUCCESS
TSC1	7248	.	GRCh37	9	135797282	135797282	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	26	56	0	ENST00000298552.3:c.587C>T	p.Pro196Leu	p.P196L	ENST00000298552	NM_001162426.1	196	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6956.1	587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAGGGTAC	NONE	.	.	hmmpanther:PTHR15154,Pfam_domain:PF04388	.	.	ENSP00000298552	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0.02)	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,missense_variant,p.Pro196Leu,ENST00000298552,;TSC1,missense_variant,p.Pro145Leu,ENST00000545250,;TSC1,missense_variant,p.Pro196Leu,ENST00000440111,;TSC1,missense_variant,p.Pro196Leu,ENST00000403810,;TSC1,non_coding_transcript_exon_variant,,ENST00000475903,;TSC1,non_coding_transcript_exon_variant,,ENST00000461879,;TSC1,downstream_gene_variant,,ENST00000490179,;TSC1,non_coding_transcript_exon_variant,,ENST00000493467,;	809	56	41	SUCCESS
APBA1	320	.	GRCh37	9	72071267	72071267	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1440567010	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	41	0	ENST00000265381.4:c.1684C>T	p.Arg562Trp	p.R562W	ENST00000265381	NM_001163.3	562	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6630.1	1684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCGCCGGC	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000265381	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,missense_variant,p.Arg562Trp,ENST00000265381,;APBA1,non_coding_transcript_exon_variant,,ENST00000470082,;	1907	41	57	SUCCESS
DCLRE1A	9937	.	GRCh37	10	115602174	115602174	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773114078	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	85	0	ENST00000361384.2:c.2593G>T	p.Ala865Ser	p.A865S	ENST00000361384	NM_014881.4	865	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS7584.1	2593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCCTCAA	NONE	byFrequency	.	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6,Gene3D:3.60.15.10,Superfamily_domains:SSF56281	.	.	ENSP00000355185	.	6/9	.	.	.	.	.	.	.	.	rs773114078	6/9	PASS	ENST00000361384	Transcript	.	.	ENSG00000198924	17660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.11)	.	DCR1A_HUMAN	DCLRE1A	HGNC	.	.	UPI000006EFFE	SNV	DCLRE1A,missense_variant,p.Ala865Ser,ENST00000361384,;DCLRE1A,missense_variant,p.Ala865Ser,ENST00000369305,;	3511	85	93	SUCCESS
ATE1-AS1	100130887	.	GRCh37	10	123687948	123687948	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	79	0	ENST00000437593.1:n.122G>T		p.*41*	ENST00000437593				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31299.1	.	MUTECT|MUSE	.	CCATGGCCGCC	NONE	.	397	.	.	.	ENSP00000358039	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369043	Transcript	.	.	ENSG00000107669	782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATE1_HUMAN	ATE1	HGNC	B4E107_HUMAN	.	UPI000002A471	SNV	ATE1,5_prime_UTR_variant,,ENST00000535655,;ATE1,5_prime_UTR_variant,,ENST00000540606,;ATE1,5_prime_UTR_variant,,ENST00000455628,;ATE1,upstream_gene_variant,,ENST00000369043,;ATE1,upstream_gene_variant,,ENST00000369040,;ATE1,upstream_gene_variant,,ENST00000423243,;ATE1,upstream_gene_variant,,ENST00000224652,;ATE1,upstream_gene_variant,,ENST00000543447,;ATE1-AS1,non_coding_transcript_exon_variant,,ENST00000437593,;	.	79	72	SUCCESS
KIF20B	9585	.	GRCh37	10	91498042	91498042	+	synonymous_variant	Silent	SNP	G	G	A	rs764171222	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	99	0	ENST00000371728.3:c.3444G>A	p.Ala1148=	p.A1148=	ENST00000371728	NM_001284259.1	1148	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7407.1	3324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGCTTTC	NONE	byFrequency	.	hmmpanther:PTHR23165	.	.	ENSP00000260753	.	20/33	.	.	.	.	.	.	.	.	rs764171222	20/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,synonymous_variant,p.%3D,ENST00000371728,;KIF20B,synonymous_variant,p.%3D,ENST00000416354,;KIF20B,synonymous_variant,p.%3D,ENST00000260753,;KIF20B,synonymous_variant,p.%3D,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	3396	99	90	SUCCESS
ENTPD1	953	.	GRCh37	10	97626110	97626110	+	synonymous_variant	Silent	SNP	G	G	A	rs750517800	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	66	171	0	ENST00000371205.4:c.1503G>A	p.Lys501=	p.K501=	ENST00000371205		501	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS53556.1	1539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGCCTTC	NONE	byFrequency	.	hmmpanther:PTHR11782:SF32,hmmpanther:PTHR11782	.	.	ENSP00000360250	.	10/10	.	.	.	.	.	.	.	.	rs750517800	10/10	PASS	ENST00000371207	Transcript	1	.	ENSG00000138185	3363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP1_HUMAN	ENTPD1	HGNC	.	.	UPI0000EE3B3A	SNV	ENTPD1,synonymous_variant,p.%3D,ENST00000453258,;ENTPD1,synonymous_variant,p.%3D,ENST00000371205,;ENTPD1,synonymous_variant,p.%3D,ENST00000539125,;ENTPD1,synonymous_variant,p.%3D,ENST00000543964,;ENTPD1,synonymous_variant,p.%3D,ENST00000371203,;ENTPD1,synonymous_variant,p.%3D,ENST00000371207,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000451364,;RP11-429G19.3,intron_variant,,ENST00000433113,;RP11-248J23.7,intron_variant,,ENST00000491114,;	1602	171	167	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103029663	103029663	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	57	203	0	ENST00000375735.2:c.4285T>A	p.Phe1429Ile	p.F1429I	ENST00000375735	NM_001080463.1	1429	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS44717.1	4285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATTTTAT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08393	.	.	ENSP00000381167	.	28/90	.	.	.	.	.	.	.	.	.	28/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Phe1429Ile,ENST00000398093,;DYNC2H1,missense_variant,p.Phe1429Ile,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	4285	203	160	SUCCESS
SIK3	23387	.	GRCh37	11	116746134	116746134	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765423099	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	52	0	ENST00000292055.4:c.1099G>A	p.Val367Ile	p.V367I	ENST00000292055	NM_025164.3	367	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8379.1	1099	MUTECT|MUSE	.	GGGAACGCTGA	NONE	byFrequency	.	hmmpanther:PTHR22971	.	.	ENSP00000292055	.	10/24	.	.	.	.	.	.	.	.	rs765423099	10/24	PASS	ENST00000292055	Transcript	.	.	ENSG00000160584	29165	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.07)	.	SIK3_HUMAN	SIK3	HGNC	.	.	UPI00001FA400	SNV	SIK3,missense_variant,p.Val266Ile,ENST00000434315,;SIK3,missense_variant,p.Val419Ile,ENST00000445177,;SIK3,missense_variant,p.Val367Ile,ENST00000292055,;SIK3,missense_variant,p.Val377Ile,ENST00000446921,;SIK3,missense_variant,p.Val425Ile,ENST00000375300,;SIK3,missense_variant,p.Val328Ile,ENST00000413553,;SIK3,missense_variant,p.Val319Ile,ENST00000542607,;SIK3,5_prime_UTR_variant,,ENST00000375288,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000472648,;SIK3,upstream_gene_variant,,ENST00000480222,;	1135	52	52	SUCCESS
SORL1	6653	.	GRCh37	11	121476237	121476237	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	63	126	0	ENST00000260197.7:c.4905A>G	p.Ala1635=	p.A1635=	ENST00000260197	NM_003105.5	1635	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8436.1	4905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCACACAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000260197	.	35/48	.	.	.	.	.	.	.	.	.	35/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,synonymous_variant,p.%3D,ENST00000534286,;SORL1,synonymous_variant,p.%3D,ENST00000527934,;SORL1,synonymous_variant,p.%3D,ENST00000525532,;SORL1,synonymous_variant,p.%3D,ENST00000260197,;SORL1,synonymous_variant,p.%3D,ENST00000532694,;SORL1,upstream_gene_variant,,ENST00000528339,;	5034	126	125	SUCCESS
OR51S1	119692	.	GRCh37	11	4869943	4869943	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1025636880	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	77	0	ENST00000322101.2:c.496C>T	p.Pro166Ser	p.P166S	ENST00000322101	NM_001004758.1	166	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31362.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCAGAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000322754	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322101	Transcript	.	.	ENSG00000176922	15204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O51S1_HUMAN	OR51S1	HGNC	.	.	UPI0000041C33	SNV	OR51S1,missense_variant,p.Pro166Ser,ENST00000322101,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	572	77	84	SUCCESS
OR4C15	81309	.	GRCh37	11	55322154	55322154	+	synonymous_variant	Silent	SNP	G	G	C	rs761163357	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	41	0	ENST00000314644.2:c.372G>C	p.Ala124=	p.A124=	ENST00000314644	NM_001001920.1	124	gcG/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS31501.1	372	MUTECT|MUSE	.	GATGCGTGCTT	BUFFER|p.S127T|c.379T>A|3	byFrequency	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF14,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000324958	.	1/1	.	.	.	.	.	.	.	.	rs761163357,COSM1286838	1/1	PASS	ENST00000314644	Transcript	.	.	ENSG00000181939	15171	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	OR4CF_HUMAN	OR4C15	HGNC	.	.	UPI00003B288E	SNV	OR4C15,synonymous_variant,p.%3D,ENST00000314644,;	372	41	60	SUCCESS
OR9G1	390174	.	GRCh37	11	56468353	56468353	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	144	0	ENST00000312153.1:c.490T>A	p.Ser164Thr	p.S164T	ENST00000312153	NM_001005213.1	164	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31536.1	490	RADIA|MUTECT|MUSE	.	CGTTTTCCTTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.67)	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,missense_variant,p.Ser164Thr,ENST00000312153,;	490	144	129	SUCCESS
CRY1	1407	.	GRCh37	12	107486784	107486784	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	28	0	ENST00000008527.5:c.-45T>A		p.*15*	ENST00000008527	NM_004075.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9112.1	.	MUTECT|MUSE	.	GAAGGAGGCTC	NONE	.	.	.	.	.	ENSP00000008527	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000008527	Transcript	.	.	ENSG00000008405	2384	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRY1_HUMAN	CRY1	HGNC	H0YHT0_HUMAN,A2I2P0_HUMAN	.	UPI0000073E80	SNV	CRY1,5_prime_UTR_variant,,ENST00000008527,;RP11-797M17.1,upstream_gene_variant,,ENST00000547679,;CRY1,non_coding_transcript_exon_variant,,ENST00000550633,;	824	28	15	SUCCESS
KMT2D	8085	.	GRCh37	12	49443599	49443599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1202299145	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	180	0	ENST00000301067.7:c.3772C>T	p.Arg1258Trp	p.R1258W	ENST00000301067	NM_003482.3	1258	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44873.1	3772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGTAGGG	NONE	.	.	.	.	.	ENSP00000301067	.	11/54	.	.	.	.	.	.	.	.	COSM1215202,COSM1215201	11/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.984)	.	.	1,1	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Arg1258Trp,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000547610,;	3772	180	134	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72026111	72026111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	72	0	ENST00000378743.3:c.3001G>T	p.Val1001Leu	p.V1001L	ENST00000378743	NM_144982.4	1001	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS41813.1	3001	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACAACTG	NONE	.	.	hmmpanther:PTHR21563	.	.	ENSP00000368017	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.29)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.Val1001Leu,ENST00000378743,;ZFC3H1,missense_variant,p.Val1001Leu,ENST00000552994,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000546606,;	3360	72	76	SUCCESS
PCDH17	27253	.	GRCh37	13	58299287	58299287	+	synonymous_variant	Silent	SNP	G	G	A	rs540534018	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	53	98	0	ENST00000377918.3:c.3339G>A	p.Glu1113=	p.E1113=	ENST00000377918	NM_001040429.2	1113	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS31986.1	3339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAGATGGG	NONE	.	.	.	.	.	ENSP00000367151	.	4/4	.	.	.	.	.	.	.	.	rs540534018	4/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,synonymous_variant,p.%3D,ENST00000377918,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	3365	98	129	SUCCESS
RTL1	388015	.	GRCh37	14	101350343	101350343	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1261234874	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	64	0	ENST00000534062.1:c.783C>A	p.Ser261Arg	p.S261R	ENST00000534062	NM_001134888.2	261	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS53910.1	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCTGTT	NONE	.	.	Pfam_domain:PF03732,hmmpanther:PTHR15503	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,missense_variant,p.Ser261Arg,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	842	64	49	SUCCESS
PLEKHG3	26030	.	GRCh37	14	65199611	65199611	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs75568560	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	65	218	1	ENST00000394691.1:c.1337G>T	p.Arg446Leu	p.R446L	ENST00000394691		446	cGg/cTg	0	A:0	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS32098.1	1169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGGCAAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22143:SF4,hmmpanther:PTHR22143	A:0.002	A:0.0001	ENSP00000247226	A:0	10/15	.	.	.	.	.	.	.	.	rs75568560	10/15	PASS	ENST00000247226	Transcript	.	A:0.0004	ENSG00000126822	20364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	deleterious(0)	.	PKHG3_HUMAN	PLEKHG3	HGNC	G3V311_HUMAN	.	UPI0000407D62	SNV	PLEKHG3,missense_variant,p.Arg390Leu,ENST00000247226,;PLEKHG3,missense_variant,p.Arg446Leu,ENST00000394691,;PLEKHG3,downstream_gene_variant,,ENST00000554499,;PLEKHG3,downstream_gene_variant,,ENST00000555982,;PLEKHG3,downstream_gene_variant,,ENST00000556801,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	1477	220	168	SUCCESS
CDAN1	146059	.	GRCh37	15	43027807	43027807	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371090455	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	113	0	ENST00000356231.3:c.844C>T	p.Arg282Trp	p.R282W	ENST00000356231	NM_138477.2	282	Cgg/Tgg	0	A:0.0002	.	.	.	.	A	R/W	protein_coding	YES	CCDS32209.1	844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGGCTGG	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000348564	.	4/28	.	.	.	.	.	.	.	.	rs371090455	4/28	PASS	ENST00000356231	Transcript	1	.	ENSG00000140326	1713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.11)	.	CDAN1_HUMAN	CDAN1	HGNC	H3BM60_HUMAN	.	UPI0000229BCB	SNV	CDAN1,missense_variant,p.Arg282Trp,ENST00000356231,;CDAN1,downstream_gene_variant,,ENST00000563260,;TTBK2,downstream_gene_variant,,ENST00000267890,;CTD-2036P10.3,upstream_gene_variant,,ENST00000567456,;CDAN1,upstream_gene_variant,,ENST00000562465,;	868	113	88	SUCCESS
AP2B1	163	.	GRCh37	17	33932839	33932839	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	74	0	ENST00000312678.8:c.259G>T	p.Ala87Ser	p.A87S	ENST00000312678	NM_001030006.1	87	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32621.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGCTGTA	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371	.	.	ENSP00000314414	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.01)	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,missense_variant,p.Ala87Ser,ENST00000589344,;AP2B1,missense_variant,p.Ala87Ser,ENST00000589774,;AP2B1,missense_variant,p.Ala87Ser,ENST00000262325,;AP2B1,missense_variant,p.Ala87Ser,ENST00000312678,;AP2B1,missense_variant,p.Ala87Ser,ENST00000593014,;AP2B1,missense_variant,p.Ala87Ser,ENST00000592545,;AP2B1,missense_variant,p.Ala87Ser,ENST00000537622,;AP2B1,missense_variant,p.Ala30Ser,ENST00000538556,;AP2B1,downstream_gene_variant,,ENST00000590432,;AP2B1,downstream_gene_variant,,ENST00000588093,;AP2B1,upstream_gene_variant,,ENST00000591561,;AP2B1,3_prime_UTR_variant,,ENST00000590538,;AP2B1,3_prime_UTR_variant,,ENST00000592191,;AP2B1,intron_variant,,ENST00000591610,;AP2B1,downstream_gene_variant,,ENST00000592167,;	389	74	84	SUCCESS
ONECUT2	9480	.	GRCh37	18	55103728	55103728	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	56	0	ENST00000491143.2:c.780C>T	p.Pro260=	p.P260=	ENST00000491143	NM_004852.2	260	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42440.1	780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCAACTT	NONE	.	.	hmmpanther:PTHR14057:SF10,hmmpanther:PTHR14057	.	.	ENSP00000419185	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000491143	Transcript	.	.	ENSG00000119547	8139	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ONEC2_HUMAN	ONECUT2	HGNC	.	.	UPI0000201DC1	SNV	ONECUT2,synonymous_variant,p.%3D,ENST00000491143,;AC090340.1,downstream_gene_variant,,ENST00000581316,;	812	56	62	SUCCESS
ZNF69	7620	.	GRCh37	19	12015547	12015547	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	10	140	0	ENST00000429654.2:c.335T>C	p.Leu112Pro	p.L112P	ENST00000429654		112	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS32914.1	293	MUSE|VARSCANS	.	CAGGCTGAACT	NONE	.	.	hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379	.	.	ENSP00000345333	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000340180	Transcript	.	.	ENSG00000198429	13138	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.957)	.	deleterious(0.02)	.	ZNF69_HUMAN	ZNF69	HGNC	.	.	UPI00001969B3	SNV	ZNF69,missense_variant,p.Leu98Pro,ENST00000340180,;ZNF69,missense_variant,p.Leu112Pro,ENST00000429654,;ZNF69,missense_variant,p.Leu98Pro,ENST00000445911,;	362	140	114	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36278879	36278879	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	42	269	0	ENST00000314737.5:c.2929T>C	p.Tyr977His	p.Y977H	ENST00000314737	NM_052948.3	977	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS12477.1	2929	MUTECT|MUSE|VARSCANS	.	TCAGCTACCCG	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	.	.	ENSP00000320038	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,missense_variant,p.Tyr1138His,ENST00000007510,;ARHGAP33,missense_variant,p.Tyr974His,ENST00000378944,;ARHGAP33,missense_variant,p.Tyr714His,ENST00000587447,;ARHGAP33,missense_variant,p.Tyr977His,ENST00000314737,;ARHGAP33,intron_variant,,ENST00000588248,;AC002398.5,downstream_gene_variant,,ENST00000564335,;AC002398.5,downstream_gene_variant,,ENST00000433059,;AC002398.5,downstream_gene_variant,,ENST00000567313,;ARHGAP33,downstream_gene_variant,,ENST00000591438,;ARHGAP33,downstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000601474,;	3013	270	211	SUCCESS
HMCN1	83872	.	GRCh37	1	185897698	185897698	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	46	0	ENST00000271588.4:c.1451T>G	p.Leu484Ter	p.L484*	ENST00000271588	NM_031935.2	484	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS30956.1	1451	MUTECT|MUSE|VARSCANS	.	GAACTTAGATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	10/107	.	.	.	.	.	.	.	.	.	10/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,stop_gained,p.Leu484Ter,ENST00000367492,;HMCN1,stop_gained,p.Leu484Ter,ENST00000271588,;	1680	46	75	SUCCESS
FMN2	56776	.	GRCh37	1	240286619	240286619	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	76	40	0	ENST00000319653.9:c.1756G>A	p.Ala586Thr	p.A586T	ENST00000319653	NM_020066.4	586	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31069.2	1756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGCCCAG	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Ala586Thr,ENST00000319653,;FMN2,missense_variant,p.Ala19Thr,ENST00000447095,;	1986	40	89	SUCCESS
SCRT2	85508	.	GRCh37	20	644968	644968	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	33	0	ENST00000246104.6:c.271C>T	p.Leu91=	p.L91=	ENST00000246104	NM_033129.3	91	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13006.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACAGGCTCG	NONE	.	.	hmmpanther:PTHR11389:SF345,hmmpanther:PTHR11389	.	.	ENSP00000246104	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000246104	Transcript	.	.	ENSG00000215397	15952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRT2_HUMAN	SCRT2	HGNC	.	.	UPI00002318AA	SNV	SCRT2,synonymous_variant,p.%3D,ENST00000246104,;RP5-850E9.3,intron_variant,,ENST00000488788,;	849	33	24	SUCCESS
SSTR3	6753	.	GRCh37	22	37603385	37603385	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558818233	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	58	0	ENST00000328544.3:c.458G>A	p.Arg153His	p.R153H	ENST00000328544	NM_001051.3	153	cGc/cAc	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS13944.1	458	MUTECT|MUSE	.	GCCAGCGGGCC	NONE	by1000G	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24229:SF36,hmmpanther:PTHR24229,PROSITE_profiles:PS50262	T:0.001	.	ENSP00000330138	T:0	2/2	.	.	.	.	.	.	.	.	rs558818233,COSM1266827	2/2	PASS	ENST00000328544	Transcript	.	T:0.0002	ENSG00000183473	11332	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.969)	T:0	deleterious(0.01)	0,1	SSR3_HUMAN	SSTR3	HGNC	Q86YF2_HUMAN	.	UPI0000050435	SNV	SSTR3,missense_variant,p.Arg153His,ENST00000328544,;SSTR3,missense_variant,p.Arg153His,ENST00000402501,;	992	58	47	SUCCESS
TEF	7008	.	GRCh37	22	41783376	41783376	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	51	0	ENST00000266304.4:c.179A>G	p.Lys60Arg	p.K60R	ENST00000266304	NM_003216.3	60	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14014.1	179	MUTECT|MUSE	.	GGAAAAGCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11988,hmmpanther:PTHR11988:SF24	.	.	ENSP00000266304	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000266304	Transcript	.	.	ENSG00000167074	11722	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.09)	.	tolerated(0.09)	.	TEF_HUMAN	TEF	HGNC	B4DIH3_HUMAN	.	UPI00000747BD	SNV	TEF,missense_variant,p.Lys60Arg,ENST00000266304,;TEF,missense_variant,p.Lys26Arg,ENST00000413942,;TEF,missense_variant,p.Lys30Arg,ENST00000406644,;	295	51	57	SUCCESS
HECW2	57520	.	GRCh37	2	197184307	197184307	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	85	0	ENST00000260983.3:c.1307G>A	p.Cys436Tyr	p.C436Y	ENST00000260983	NM_020760.1	436	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS33354.1	1307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCAGGTC	NONE	.	.	hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254	.	.	ENSP00000260983	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.02)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Cys436Tyr,ENST00000260983,;HECW2,missense_variant,p.Cys80Tyr,ENST00000409111,;	1490	85	78	SUCCESS
BIRC6	57448	.	GRCh37	2	32641025	32641025	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	36	140	0	ENST00000421745.2:c.2666T>C	p.Phe889Ser	p.F889S	ENST00000421745	NM_016252.3	889	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS33175.2	2666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTTTGAGA	BUFFER|p.K886N|c.2658G>T|3,BUFFER|p.K886N|c.2658G>T|3	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	10/74	.	.	.	.	.	.	.	.	.	10/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Phe889Ser,ENST00000421745,;	2800	140	176	SUCCESS
NRXN1	9378	.	GRCh37	2	51255367	51255367	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	15	0	ENST00000406316.2:c.45C>A	p.Cys15Ter	p.C15*	ENST00000406316	NM_004801.4	15	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS46282.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGCACAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,stop_gained,p.Cys15Ter,ENST00000405472,;NRXN1,stop_gained,p.Cys15Ter,ENST00000404971,;NRXN1,stop_gained,p.Cys15Ter,ENST00000406316,;NRXN1,stop_gained,p.Cys15Ter,ENST00000401669,;NRXN1,stop_gained,p.Cys15Ter,ENST00000406859,;NRXN1,stop_gained,p.Cys15Ter,ENST00000405581,;NRXN1,stop_gained,p.Cys15Ter,ENST00000402717,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,upstream_gene_variant,,ENST00000496792,;	1385	15	16	SUCCESS
PLXNA1	5361	.	GRCh37	3	126726740	126726740	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779409701	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	45	0	ENST00000393409.2:c.2096G>A	p.Arg699His	p.R699H	ENST00000393409	NM_032242.3	699	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS33847.2	2096	MUTECT|MUSE	.	GGGCCGTGTCA	NONE	byFrequency	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000377061	.	8/31	.	.	.	.	.	.	.	.	rs779409701	8/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.939)	.	deleterious(0.02)	.	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,missense_variant,p.Arg699His,ENST00000393409,;PLXNA1,missense_variant,p.Arg676His,ENST00000251772,;	2096	45	45	SUCCESS
COL6A6	131873	.	GRCh37	3	130293202	130293202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	70	164	0	ENST00000358511.6:c.3380A>G	p.His1127Arg	p.H1127R	ENST00000358511	NM_001102608.1	1127	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS46911.1	3380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACACAGAG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.69)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.His1127Arg,ENST00000453409,;COL6A6,missense_variant,p.His1127Arg,ENST00000358511,;	3411	164	175	SUCCESS
STAB1	23166	.	GRCh37	3	52551075	52551075	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144391932	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	54	127	0	ENST00000321725.6:c.4439G>A	p.Arg1480Gln	p.R1480Q	ENST00000321725	NM_015136.2	1480	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS33768.1	4439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGGACAT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF82153,SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF12947,Gene3D:2.10.25.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	.	A:0	ENSP00000312946	.	42/69	.	.	.	.	.	.	.	.	rs144391932	42/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Arg1480Gln,ENST00000321725,;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;STAB1,upstream_gene_variant,,ENST00000481626,;	4515	127	118	SUCCESS
IL17RD	54756	.	GRCh37	3	57130461	57130461	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146776354	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	107	0	ENST00000296318.7:c.2180G>A	p.Arg727His	p.R727H	ENST00000296318	NM_017563.3	727	cGc/cAc	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS2880.2	2180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCGGCAA	NONE	byCluster	.	hmmpanther:PTHR15583:SF8,hmmpanther:PTHR15583	.	T:0	ENSP00000296318	.	13/13	.	.	.	.	.	.	.	.	rs146776354	13/13	PASS	ENST00000296318	Transcript	.	.	ENSG00000144730	17616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	I17RD_HUMAN	IL17RD	HGNC	C9J6R0_HUMAN	.	UPI0000047CC3	SNV	IL17RD,missense_variant,p.Arg583His,ENST00000463523,;IL17RD,missense_variant,p.Arg583His,ENST00000320057,;IL17RD,missense_variant,p.Arg703His,ENST00000427856,;IL17RD,missense_variant,p.Arg727His,ENST00000296318,;IL17RD,downstream_gene_variant,,ENST00000469841,;	2269	107	115	SUCCESS
IRF2	3660	.	GRCh37	4	185339323	185339323	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	.	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	58	170	0	ENST00000393593.3:c.409A>T	p.Lys137Ter	p.K137*	ENST00000393593	NM_002199.3	137	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS3835.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTGATGT	NONE	.	.	PIRSF_domain:PIRSF038196,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22	.	.	ENSP00000377218	.	5/9	.	.	.	.	.	.	.	.	COSM251435	5/9	PASS	ENST00000393593	Transcript	.	.	ENSG00000168310	6117	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IRF2_HUMAN	IRF2	HGNC	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN	.	UPI000012D888	SNV	IRF2,stop_gained,p.Lys137Ter,ENST00000507523,;IRF2,stop_gained,p.Lys137Ter,ENST00000393593,;IRF2,stop_gained,p.Lys137Ter,ENST00000506230,;IRF2,stop_gained,p.Lys137Ter,ENST00000510814,;IRF2,stop_gained,p.Lys36Ter,ENST00000505067,;IRF2,intron_variant,,ENST00000502750,;IRF2,splice_region_variant,,ENST00000512020,;IRF2,downstream_gene_variant,,ENST00000509274,;	617	170	83	SUCCESS
CLDN20	49861	.	GRCh37	6	155597357	155597357	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1391123602	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	51	142	0	ENST00000367165.3:c.504C>A	p.Phe168Leu	p.F168L	ENST00000367165	NM_001001346.3	168	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS5249.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTCATTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12002:SF17,hmmpanther:PTHR12002,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000356133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367165	Transcript	.	.	ENSG00000171217	2042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.554)	.	deleterious(0.02)	.	CLD20_HUMAN	CLDN20	HGNC	.	.	UPI0000001069	SNV	CLDN20,missense_variant,p.Phe168Leu,ENST00000367165,;TFB1M,intron_variant,,ENST00000367166,;TFB1M,intron_variant,,ENST00000470239,;TFB1M,intron_variant,,ENST00000468889,;TFB1M,intron_variant,,ENST00000489874,;TFB1M,intron_variant,,ENST00000495806,;	884	142	135	SUCCESS
ITPR3	3710	.	GRCh37	6	33644858	33644858	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147513071	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	25	215	0	ENST00000374316.5:c.3514G>A	p.Val1172Ile	p.V1172I	ENST00000374316		1172	Gtc/Atc	0	A:0.0036	A:0.0045	.	A:0	.	A	V/I	protein_coding	YES	CCDS4783.1	3514	RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGTCAAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715,Gene3D:1n4kA02,Superfamily_domains:0048280	A:0	A:0	ENSP00000363435	A:0	28/59	.	.	.	.	.	.	.	.	rs147513071	28/59	PASS	ENST00000374316	Transcript	.	A:0.0012	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.396)	A:0	tolerated(0.42)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Val1172Ile,ENST00000374316,;ITPR3,missense_variant,p.Val1172Ile,ENST00000605930,;	4574	215	167	SUCCESS
SNX14	57231	.	GRCh37	6	86223594	86223594	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	43	0	ENST00000314673.3:c.2577C>T	p.Asn859=	p.N859=	ENST00000314673	NM_153816.3	859	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS5004.1	2577	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGTTTTC	NONE	.	.	Pfam_domain:PF08628,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775	.	.	ENSP00000313121	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000314673	Transcript	.	.	ENSG00000135317	14977	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNX14_HUMAN	SNX14	HGNC	E2QRM8_HUMAN	.	UPI000013F8C8	SNV	SNX14,synonymous_variant,p.%3D,ENST00000505648,;SNX14,synonymous_variant,p.%3D,ENST00000418862,;SNX14,synonymous_variant,p.%3D,ENST00000508658,;SNX14,synonymous_variant,p.%3D,ENST00000513865,;SNX14,synonymous_variant,p.%3D,ENST00000369627,;SNX14,synonymous_variant,p.%3D,ENST00000314673,;SNX14,synonymous_variant,p.%3D,ENST00000346348,;SNX14,synonymous_variant,p.%3D,ENST00000515216,;SNX14,non_coding_transcript_exon_variant,,ENST00000508980,;SNX14,3_prime_UTR_variant,,ENST00000369635,;SNX14,non_coding_transcript_exon_variant,,ENST00000503491,;SNX14,downstream_gene_variant,,ENST00000503608,;	2754	43	38	SUCCESS
CDKN2B	1030	.	GRCh37	9	22009270	22009270	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	11	0	ENST00000276925.6:c.-318C>A		p.*106*	ENST00000276925	NM_004936.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6512.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGCGGAGTC	NONE	.	.	.	.	.	ENSP00000276925	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000276925	Transcript	.	.	ENSG00000147883	1788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDN2B_HUMAN	CDKN2B	HGNC	Q9UM95_HUMAN,K7PPU3_HUMAN	.	UPI000012743C	SNV	CDKN2B,5_prime_UTR_variant,,ENST00000276925,;CDKN2B,5_prime_UTR_variant,,ENST00000380142,;CDKN2B,upstream_gene_variant,,ENST00000539462,;CDKN2B-AS1,intron_variant,,ENST00000584020,;CDKN2B-AS1,intron_variant,,ENST00000584816,;CDKN2B-AS1,intron_variant,,ENST00000585267,;CDKN2B-AS1,intron_variant,,ENST00000582301,;CDKN2B-AS1,intron_variant,,ENST00000577551,;CDKN2B-AS1,intron_variant,,ENST00000584637,;CDKN2B-AS1,intron_variant,,ENST00000582072,;CDKN2B-AS1,intron_variant,,ENST00000584351,;CDKN2B-AS1,intron_variant,,ENST00000455933,;CDKN2B-AS1,intron_variant,,ENST00000581051,;CDKN2B-AS1,intron_variant,,ENST00000580467,;CDKN2B-AS1,intron_variant,,ENST00000428597,;CDKN2B-AS1,intron_variant,,ENST00000580576,;CDKN2B-AS1,intron_variant,,ENST00000583719,;CDKN2B-AS1,intron_variant,,ENST00000468603,;RP11-145E5.5,intron_variant,,ENST00000404796,;CDKN2B,upstream_gene_variant,,ENST00000579591,;UBA52P6,upstream_gene_variant,,ENST00000399822,;	93	11	17	SUCCESS
ARMCX1	51309	.	GRCh37	X	100807806	100807806	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	31	0	ENST00000372829.3:c.-108G>C		p.*36*	ENST00000372829	NM_016608.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14487.1	.	RADIA|MUTECT|MUSE	.	CCTCAGAGCCG	NONE	.	.	.	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,5_prime_UTR_variant,,ENST00000372829,;	264	31	12	SUCCESS
PLXNA3	55558	.	GRCh37	X	153698391	153698391	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	58	319	2	ENST00000369682.3:c.4867G>T	p.Glu1623Ter	p.E1623*	ENST00000369682	NM_017514.3	1623	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14752.1	4867	RADIA|VARSCANS	.	ACCAGGAGACA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Pfam_domain:PF08337	.	.	ENSP00000358696	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,stop_gained,p.Glu1623Ter,ENST00000369682,;PLXNA3,non_coding_transcript_exon_variant,,ENST00000493546,;PLXNA3,downstream_gene_variant,,ENST00000480645,;PLXNA3,downstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000497802,;PLXNA3,downstream_gene_variant,,ENST00000491066,;PLXNA3,downstream_gene_variant,,ENST00000478236,;	5042	321	237	SUCCESS
MED14	9282	.	GRCh37	X	40511063	40511063	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	123	466	1	ENST00000324817.1:c.4360C>A	p.Pro1454Thr	p.P1454T	ENST00000324817	NM_004229.3	1454	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14254.1	4360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGGACGCC	NONE	.	.	hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2	.	.	ENSP00000323720	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,missense_variant,p.Pro1454Thr,ENST00000324817,;MED14,intron_variant,,ENST00000416199,;MED14,downstream_gene_variant,,ENST00000433003,;CXorf38,upstream_gene_variant,,ENST00000327877,;CXorf38,upstream_gene_variant,,ENST00000378418,;CXorf38,upstream_gene_variant,,ENST00000378421,;CXorf38,upstream_gene_variant,,ENST00000440784,;CXorf38,upstream_gene_variant,,ENST00000378426,;	4479	467	378	SUCCESS
DHTKD1	55526	.	GRCh37	10	12126675	12126675	+	synonymous_variant	Silent	SNP	G	G	T	rs757610245	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	58	131	0	ENST00000263035.4:c.447G>T	p.Arg149=	p.R149=	ENST00000263035	NM_018706.6	149	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7087.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGGTTTGA	NONE	.	.	hmmpanther:PTHR23152,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR00239,PIRSF_domain:PIRSF000157,Superfamily_domains:SSF52518	.	.	ENSP00000263035	.	3/17	.	.	.	.	.	.	.	.	rs757610245	3/17	PASS	ENST00000263035	Transcript	1	.	ENSG00000181192	23537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHTK1_HUMAN	DHTKD1	HGNC	.	.	UPI000013D38C	SNV	DHTKD1,synonymous_variant,p.%3D,ENST00000437298,;DHTKD1,synonymous_variant,p.%3D,ENST00000263035,;DHTKD1,upstream_gene_variant,,ENST00000415935,;DHTKD1,intron_variant,,ENST00000465617,;	509	131	122	SUCCESS
BAG3	9531	.	GRCh37	10	121411173	121411175	+	5_prime_UTR_variant	5'UTR	DEL	AGA	AGA	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	50	0	ENST00000369085.3:c.-15_-13del		p.*5*	ENST00000369085	NM_004281.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7615.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGGCAGACCCCA	NONE	.	.	.	.	.	ENSP00000358081	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369085	Transcript	1	.	ENSG00000151929	939	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAG3_HUMAN	BAG3	HGNC	.	.	UPI0000000C7A	deletion	BAG3,5_prime_UTR_variant,,ENST00000369085,;BAG3,upstream_gene_variant,,ENST00000450186,;	292-294	50	45	SUCCESS
CLRN3	119467	.	GRCh37	10	129681969	129681969	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776005153	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	109	0	ENST00000368671.3:c.400G>T	p.Gly134Trp	p.G134W	ENST00000368671	NM_152311.3	134	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS7656.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCGTTCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF3,Pfam_domain:PF13903	.	.	ENSP00000357660	.	2/3	.	.	.	.	.	.	.	.	rs776005153	2/3	PASS	ENST00000368671	Transcript	.	.	ENSG00000180745	20795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CLRN3_HUMAN	CLRN3	HGNC	.	.	UPI00000701B3	SNV	CLRN3,missense_variant,p.Gly134Trp,ENST00000368671,;	563	109	83	SUCCESS
GPR123	0	.	GRCh37	10	134942775	134942775	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	56	0	ENST00000392607.3:c.1443C>T	p.Val481=	p.V481=	ENST00000392607	NM_001083909.1	481	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS41580.1	1443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCACCCA	NONE	.	.	.	.	.	ENSP00000376384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000392607	Transcript	.	.	ENSG00000197177	13838	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP123_HUMAN	GPR123	HGNC	.	.	UPI00003D41AD	SNV	GPR123,synonymous_variant,p.%3D,ENST00000607359,;GPR123,synonymous_variant,p.%3D,ENST00000392606,;GPR123,synonymous_variant,p.%3D,ENST00000392607,;	1879	56	46	SUCCESS
MKX	283078	.	GRCh37	10	28023482	28023482	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs760341032	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	57	131	0	ENST00000375790.5:c.741A>T	p.Gln247His	p.Q247H	ENST00000375790		247	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7156.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTTTGCCT	NONE	.	.	hmmpanther:PTHR11211:SF3,hmmpanther:PTHR11211	.	.	ENSP00000364946	.	5/7	.	.	.	.	.	.	.	.	rs760341032	5/7	PASS	ENST00000375790	Transcript	.	.	ENSG00000150051	23729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	deleterious(0.02)	.	MKX_HUMAN	MKX	HGNC	H0YMU2_HUMAN	.	UPI0000161911	SNV	MKX,missense_variant,p.Gln247His,ENST00000375790,;MKX,missense_variant,p.Gln247His,ENST00000419761,;MKX,missense_variant,p.Gln247His,ENST00000460919,;	1174	131	110	SUCCESS
EPC1	80314	.	GRCh37	10	32560684	32560684	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	65	138	0	ENST00000263062.8:c.2236A>T	p.Thr746Ser	p.T746S	ENST00000263062	NM_025209.3	746	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7172.1	2236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGTTGCAG	NONE	.	.	hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF3,Pfam_domain:PF06752	.	.	ENSP00000263062	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000263062	Transcript	.	.	ENSG00000120616	19876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.468)	.	tolerated(0.61)	.	EPC1_HUMAN	EPC1	HGNC	Q68DJ2_HUMAN	.	UPI000006F77F	SNV	EPC1,missense_variant,p.Thr723Ser,ENST00000319778,;EPC1,missense_variant,p.Thr673Ser,ENST00000375110,;EPC1,missense_variant,p.Thr746Ser,ENST00000263062,;RP11-166N17.1,downstream_gene_variant,,ENST00000415731,;EPC1,downstream_gene_variant,,ENST00000479380,;EPC1,non_coding_transcript_exon_variant,,ENST00000476533,;EPC1,non_coding_transcript_exon_variant,,ENST00000492710,;	2506	138	132	SUCCESS
FRMPD2	143162	.	GRCh37	10	49392912	49392912	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs529008159	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	82	0	ENST00000374201.3:c.2372A>T	p.Asn791Ile	p.N791I	ENST00000374201	NM_001018071.3	791	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS31195.1	2372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATTAATG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000363317	.	19/29	.	.	.	.	.	.	.	.	rs529008159	19/29	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	tolerated(0.52)	.	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,missense_variant,p.Asn791Ile,ENST00000374201,;FRMPD2,missense_variant,p.Asn759Ile,ENST00000407470,;FRMPD2,missense_variant,p.Asn766Ile,ENST00000305531,;FRMPD2,downstream_gene_variant,,ENST00000494505,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;	2675	82	71	SUCCESS
VSTM4	196740	.	GRCh37	10	50256624	50256624	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764695395	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	62	0	ENST00000332853.4:c.674G>T	p.Gly225Val	p.G225V	ENST00000332853	NM_001031746.3	225	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31198.1	674	MUTECT|MUSE|VARSCANS	.	TCTCCCCTGAG	NONE	.	.	hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF8	.	.	ENSP00000331062	.	6/8	.	.	.	.	.	.	.	.	rs764695395	6/8	PASS	ENST00000332853	Transcript	.	.	ENSG00000165633	26470	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VSTM4_HUMAN	VSTM4	HGNC	.	.	UPI00001B01E4	SNV	VSTM4,missense_variant,p.Gly225Val,ENST00000332853,;	698	62	71	SUCCESS
MMP7	4316	.	GRCh37	11	102398359	102398359	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs138303399	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	87	0	ENST00000260227.4:c.380G>T	p.Arg127Leu	p.R127L	ENST00000260227	NM_002423.3	127	cGa/cTa	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS8317.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATCGATCC	NONE	byCluster	.	hmmpanther:PTHR10201:SF128,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	T:0	ENSP00000260227	.	3/6	.	.	.	.	.	.	.	.	rs138303399	3/6	PASS	ENST00000260227	Transcript	.	.	ENSG00000137673	7174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	tolerated(0.12)	.	MMP7_HUMAN	MMP7	HGNC	A5GZ72_HUMAN	.	UPI00000422BD	SNV	MMP7,missense_variant,p.Arg127Leu,ENST00000260227,;MMP7,non_coding_transcript_exon_variant,,ENST00000533366,;MMP7,non_coding_transcript_exon_variant,,ENST00000531200,;	433	87	63	SUCCESS
GUCY1A2	2977	.	GRCh37	11	106810255	106810255	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	175	0	ENST00000526355.2:c.1137G>A	p.Leu379=	p.L379=	ENST00000526355	NM_000855.2	379	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58170.1	1137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCAGGAC	NONE	.	.	hmmpanther:PTHR11920:SF276,hmmpanther:PTHR11920,Pfam_domain:PF07701	.	.	ENSP00000282249	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000282249	Transcript	.	.	ENSG00000152402	4684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCYA2_HUMAN	GUCY1A2	HGNC	.	.	UPI000002A79C	SNV	GUCY1A2,synonymous_variant,p.%3D,ENST00000282249,;GUCY1A2,synonymous_variant,p.%3D,ENST00000526355,;GUCY1A2,synonymous_variant,p.%3D,ENST00000347596,;	1527	175	116	SUCCESS
DRD2	1813	.	GRCh37	11	113281601	113281601	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1171568451	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	60	134	0	ENST00000362072.3:c.1180A>G	p.Ile394Val	p.I394V	ENST00000362072	NM_000795.3	394	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8361.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGATGTGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000354859	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000362072	Transcript	.	.	ENSG00000149295	3023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	tolerated(0.45)	.	DRD2_HUMAN	DRD2	HGNC	Q6LDH7_HUMAN	.	UPI0000001315	SNV	DRD2,missense_variant,p.Ile394Val,ENST00000542968,;DRD2,missense_variant,p.Ile393Val,ENST00000544518,;DRD2,missense_variant,p.Ile394Val,ENST00000362072,;DRD2,missense_variant,p.Ile396Val,ENST00000355319,;DRD2,missense_variant,p.Ile365Val,ENST00000346454,;DRD2,missense_variant,p.Ile396Val,ENST00000538967,;RP11-159N11.3,intron_variant,,ENST00000546284,;DRD2,downstream_gene_variant,,ENST00000535984,;DRD2,downstream_gene_variant,,ENST00000539420,;DRD2,downstream_gene_variant,,ENST00000540600,;	1525	134	97	SUCCESS
OR8D1	283159	.	GRCh37	11	124180322	124180322	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs749544637	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	76	111	0	ENST00000357821.2:c.341T>A	p.Leu114His	p.L114H	ENST00000357821	NM_001002917.1	114	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS31706.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGAGGTAA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF66,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000350474	.	1/1	.	.	.	.	.	.	.	.	rs749544637	1/1	PASS	ENST00000357821	Transcript	.	.	ENSG00000196341	8481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	OR8D1_HUMAN	OR8D1	HGNC	.	.	UPI0000041D9D	SNV	OR8D1,missense_variant,p.Leu114His,ENST00000357821,;	412	111	109	SUCCESS
USH1C	10083	.	GRCh37	11	17565945	17565945	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	20	54	0	ENST00000318024.4:c.-91C>A		p.*31*	ENST00000318024	NM_005709.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7825.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGGCCAGC	NONE	.	91	.	.	.	ENSP00000005226	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000005226	Transcript	.	.	ENSG00000006611	12597	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH1C_HUMAN	USH1C	HGNC	.	.	UPI00001D965A	SNV	USH1C,5_prime_UTR_variant,,ENST00000318024,;USH1C,5_prime_UTR_variant,,ENST00000527020,;OTOG,upstream_gene_variant,,ENST00000399397,;USH1C,upstream_gene_variant,,ENST00000005226,;OTOG,upstream_gene_variant,,ENST00000428619,;OTOG,upstream_gene_variant,,ENST00000399391,;USH1C,5_prime_UTR_variant,,ENST00000526313,;OTOG,upstream_gene_variant,,ENST00000498332,;	.	54	34	SUCCESS
CD44	960	.	GRCh37	11	35236397	35236397	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs200427375	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	33	84	0	ENST00000428726.2:c.1811-2A>T		p.X604_splice	ENST00000428726	NM_000610.3	604		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7897.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACAGGAGA	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000398632	.	.	.	.	.	.	.	.	.	.	rs200427375	.	PASS	ENST00000428726	Transcript	.	.	ENSG00000026508	1681	.	.	HIGH	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD44_HUMAN	CD44	HGNC	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN	.	UPI000013D3FE	SNV	CD44,splice_acceptor_variant,,ENST00000449691,;CD44,splice_acceptor_variant,,ENST00000279452,;CD44,splice_acceptor_variant,,ENST00000442151,;CD44,splice_acceptor_variant,,ENST00000437706,;CD44,splice_acceptor_variant,,ENST00000526000,;CD44,splice_acceptor_variant,,ENST00000263398,;CD44,splice_acceptor_variant,,ENST00000433892,;CD44,splice_acceptor_variant,,ENST00000415148,;CD44,splice_acceptor_variant,,ENST00000360158,;CD44,splice_acceptor_variant,,ENST00000428726,;CD44,splice_acceptor_variant,,ENST00000434472,;CD44,splice_acceptor_variant,,ENST00000525688,;CD44,splice_acceptor_variant,,ENST00000433354,;CD44,splice_acceptor_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000278386,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000352818,;CD44,downstream_gene_variant,,ENST00000531873,;CD44,downstream_gene_variant,,ENST00000531110,;CD44,downstream_gene_variant,,ENST00000528672,;CD44,upstream_gene_variant,,ENST00000525469,;CD44,downstream_gene_variant,,ENST00000525685,;CD44,downstream_gene_variant,,ENST00000526553,;CD44,downstream_gene_variant,,ENST00000533222,;RP1-68D18.4,non_coding_transcript_exon_variant,,ENST00000528869,;RP1-68D18.2,downstream_gene_variant,,ENST00000510619,;CD44,downstream_gene_variant,,ENST00000528086,;CD44,splice_acceptor_variant,,ENST00000525293,;CD44,splice_acceptor_variant,,ENST00000425428,;CD44,non_coding_transcript_exon_variant,,ENST00000527326,;CD44,upstream_gene_variant,,ENST00000531141,;	.	84	53	SUCCESS
HBE1	3046	.	GRCh37	11	5291051	5291051	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	82	0	ENST00000292896.2:c.70G>T	p.Ala24Ser	p.A24S	ENST00000292896	NM_005330.3	24	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS7756.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCCTCTT	NONE	.	.	Superfamily_domains:SSF46458,Gene3D:1.10.490.10,Pfam_domain:PF00042,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF7,PROSITE_profiles:PS01033	.	.	ENSP00000369586	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000380237	Transcript	.	.	ENSG00000213931	4830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0.02)	.	HBE_HUMAN	HBE1	HGNC	D9YZU7_HUMAN,A8MUF7_HUMAN	.	UPI00000004B9	SNV	HBE1,missense_variant,p.Ala24Ser,ENST00000396895,;HBE1,missense_variant,p.Ala24Ser,ENST00000380237,;HBE1,missense_variant,p.Ala24Ser,ENST00000292896,;HBG2,intron_variant,,ENST00000380252,;HBG2,intron_variant,,ENST00000380259,;	415	82	58	SUCCESS
OR8H2	390151	.	GRCh37	11	55873254	55873254	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs750508353	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	108	0	ENST00000313503.1:c.736T>G	p.Leu246Val	p.L246V	ENST00000313503	NM_001005200.1	246	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS31518.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTTGGGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	rs750508353	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.327)	.	tolerated(0.12)	.	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.Leu246Val,ENST00000313503,;	736	108	80	SUCCESS
OR8H1	219469	.	GRCh37	11	56058142	56058142	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776470125	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	20	115	0	ENST00000313022.2:c.397G>A	p.Val133Ile	p.V133I	ENST00000313022	NM_001005199.1	133	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS31526.1	397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAACTGGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000323595	.	1/1	.	.	.	.	.	.	.	.	rs776470125	1/1	PASS	ENST00000313022	Transcript	.	.	ENSG00000181693	14824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.08)	.	OR8H1_HUMAN	OR8H1	HGNC	.	.	UPI0000041BC0	SNV	OR8H1,missense_variant,p.Val133Ile,ENST00000313022,;	425	115	82	SUCCESS
CLP1	10978	.	GRCh37	11	57427466	57427466	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	29	80	0	ENST00000525602.1:c.518A>T	p.Asp173Val	p.D173V	ENST00000525602		173	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS7964.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGATGTCG	NONE	.	.	HAMAP:MF_03035,hmmpanther:PTHR12755:SF6,hmmpanther:PTHR12755,Pfam_domain:PF03205,Superfamily_domains:SSF52540	.	.	ENSP00000434995	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000533682	Transcript	.	.	ENSG00000172409	16999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	CLP1_HUMAN	CLP1	HGNC	E9PKV5_HUMAN,E9PJM4_HUMAN	.	UPI000012754A	SNV	CLP1,missense_variant,p.Asp173Val,ENST00000533682,;CLP1,missense_variant,p.Asp173Val,ENST00000525602,;CLP1,missense_variant,p.Asp184Val,ENST00000529430,;CLP1,intron_variant,,ENST00000302731,;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;	1243	80	53	SUCCESS
TMX2	51075	.	GRCh37	11	57505430	57505441	+	inframe_deletion	In_Frame_Del	DEL	TGGCCAACACAA	TGGCCAACACAA	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	TGGCCAACACAA	TGGCCAACACAA	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	160	0	ENST00000278422.4:c.297_308del	p.Ala100_Ile103del	p.A100_I103del	ENST00000278422	NM_015959.3	99	gTGGCCAACACAAtt/gtt	0	.	.	.	.	.	-	VANTI/V	protein_coding	YES	CCDS7967.1	296-307	INDELOCATOR*|VARSCANI*|PINDEL	.	GTAAAGTGGCCAACACAATTCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15853	.	.	ENSP00000278422	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000278422	Transcript	.	.	ENSG00000213593	30739	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMX2_HUMAN	TMX2	HGNC	.	.	UPI0000048EB5	deletion	TMX2,inframe_deletion,p.Ala100_Ile103del,ENST00000278422,;TMX2,intron_variant,,ENST00000378312,;C11orf31,upstream_gene_variant,,ENST00000528798,;C11orf31,upstream_gene_variant,,ENST00000534355,;C11orf31,upstream_gene_variant,,ENST00000388857,;TMX2,3_prime_UTR_variant,,ENST00000525035,;TMX2,3_prime_UTR_variant,,ENST00000529403,;TMX2,3_prime_UTR_variant,,ENST00000533602,;TMX2,non_coding_transcript_exon_variant,,ENST00000528042,;TMX2,intron_variant,,ENST00000528110,;TMX2,intron_variant,,ENST00000530114,;TMX2-CTNND1,intron_variant,,ENST00000528395,;TMX2,intron_variant,,ENST00000524972,;RP11-691N7.6,upstream_gene_variant,,ENST00000531074,;C11orf31,upstream_gene_variant,,ENST00000533321,;C11orf31,upstream_gene_variant,,ENST00000534386,;	308-319	160	77	SUCCESS
CPSF7	79869	.	GRCh37	11	61197424	61197424	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	14	0	ENST00000394888.4:c.-94G>A		p.*32*	ENST00000394888	NM_001136040.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8006.2	.	MUTECT|MUSE	.	CTAGGCCCGAA	NONE	.	41	.	.	.	ENSP00000345412	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340437	Transcript	.	.	ENSG00000149532	30098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPSF7_HUMAN	CPSF7	HGNC	C9JM38_HUMAN,C9J323_HUMAN,C9J286_HUMAN	.	UPI0001881B56	SNV	CPSF7,5_prime_UTR_variant,,ENST00000477890,;CPSF7,5_prime_UTR_variant,,ENST00000439958,;CPSF7,5_prime_UTR_variant,,ENST00000394888,;SDHAF2,upstream_gene_variant,,ENST00000534878,;SDHAF2,upstream_gene_variant,,ENST00000537782,;CPSF7,upstream_gene_variant,,ENST00000449811,;SDHAF2,upstream_gene_variant,,ENST00000301761,;CPSF7,upstream_gene_variant,,ENST00000413232,;CPSF7,upstream_gene_variant,,ENST00000450000,;CPSF7,upstream_gene_variant,,ENST00000340437,;CPSF7,upstream_gene_variant,,ENST00000539952,;CPSF7,upstream_gene_variant,,ENST00000448745,;CPSF7,upstream_gene_variant,,ENST00000413184,;CPSF7,upstream_gene_variant,,ENST00000544585,;RP11-286N22.8,upstream_gene_variant,,ENST00000541135,;CPSF7,upstream_gene_variant,,ENST00000541963,;SDHAF2,upstream_gene_variant,,ENST00000543265,;SDHAF2,upstream_gene_variant,,ENST00000542074,;CPSF7,non_coding_transcript_exon_variant,,ENST00000463244,;RP11-286N22.8,intron_variant,,ENST00000544025,;RP11-286N22.8,upstream_gene_variant,,ENST00000544880,;CPSF7,upstream_gene_variant,,ENST00000545934,;CPSF7,5_prime_UTR_variant,,ENST00000537162,;CPSF7,5_prime_UTR_variant,,ENST00000535222,;CPSF7,non_coding_transcript_exon_variant,,ENST00000537641,;SDHAF2,upstream_gene_variant,,ENST00000536250,;RP11-286N22.8,upstream_gene_variant,,ENST00000543044,;RP11-286N22.8,upstream_gene_variant,,ENST00000538594,;CPSF7,upstream_gene_variant,,ENST00000544990,;SDHAF2,upstream_gene_variant,,ENST00000359614,;RP11-286N22.8,upstream_gene_variant,,ENST00000536670,;RP11-286N22.8,upstream_gene_variant,,ENST00000544801,;CPSF7,upstream_gene_variant,,ENST00000543545,;CPSF7,upstream_gene_variant,,ENST00000536145,;SDHAF2,upstream_gene_variant,,ENST00000542794,;CPSF7,upstream_gene_variant,,ENST00000536548,;CPSF7,upstream_gene_variant,,ENST00000474684,;CPSF7,upstream_gene_variant,,ENST00000544669,;CPSF7,upstream_gene_variant,,ENST00000489728,;	.	14	9	SUCCESS
SLC22A9	114571	.	GRCh37	11	63176219	63176219	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	96	0	ENST00000279178.3:c.1469T>C	p.Leu490Pro	p.L490P	ENST00000279178	NM_080866.2	490	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS8043.1	1469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCTAAGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000279178	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000279178	Transcript	.	.	ENSG00000149742	16261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	S22A9_HUMAN	SLC22A9	HGNC	A4PB24_HUMAN	.	UPI00000745FF	SNV	SLC22A9,missense_variant,p.Leu490Pro,ENST00000279178,;SLC22A9,3_prime_UTR_variant,,ENST00000310969,;SLC22A9,intron_variant,,ENST00000536333,;	1718	96	81	SUCCESS
SLC22A9	114571	.	GRCh37	11	63177289	63177289	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	37	67	0	ENST00000279178.3:c.1617A>T	p.Arg539Ser	p.R539S	ENST00000279178	NM_080866.2	539	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS8043.1	1617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAGAACC	NONE	.	.	hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217	.	.	ENSP00000279178	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279178	Transcript	.	.	ENSG00000149742	16261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	deleterious(0.04)	.	S22A9_HUMAN	SLC22A9	HGNC	A4PB24_HUMAN	.	UPI00000745FF	SNV	SLC22A9,missense_variant,p.Arg539Ser,ENST00000279178,;SLC22A9,3_prime_UTR_variant,,ENST00000310969,;SLC22A9,3_prime_UTR_variant,,ENST00000536333,;	1866	67	55	SUCCESS
C11orf84	0	.	GRCh37	11	63585819	63585819	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761075390	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	47	0	ENST00000294244.4:c.589C>T	p.Arg197Cys	p.R197C	ENST00000294244	NM_138471.1	197	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS31594.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCGCCCC	NONE	byFrequency	.	.	.	.	ENSP00000294244	.	3/6	.	.	.	.	.	.	.	.	rs761075390	3/6	PASS	ENST00000294244	Transcript	.	.	ENSG00000168005	25115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CK084_HUMAN	C11orf84	HGNC	.	.	UPI00001BDB3C	SNV	C11orf84,missense_variant,p.Arg197Cys,ENST00000294244,;C11orf84,upstream_gene_variant,,ENST00000535820,;C11orf84,upstream_gene_variant,,ENST00000540893,;	888	47	29	SUCCESS
FAT3	120114	.	GRCh37	11	92534161	92534161	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	48	114	0	ENST00000298047.6:c.7982T>C	p.Val2661Ala	p.V2661A	ENST00000298047		2661	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	7982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTCACAA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Val2661Ala,ENST00000298047,;FAT3,missense_variant,p.Val2661Ala,ENST00000409404,;FAT3,missense_variant,p.Val2511Ala,ENST00000525166,;	7999	114	79	SUCCESS
SWAP70	23075	.	GRCh37	11	9750888	9750888	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	137	0	ENST00000318950.6:c.790-2A>T		p.X264_splice	ENST00000318950	NM_015055.2	264		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31426.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTAGTCCT	NONE	.	.	.	.	.	ENSP00000315630	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318950	Transcript	.	.	ENSG00000133789	17070	.	.	HIGH	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWP70_HUMAN	SWAP70	HGNC	E9PJM7_HUMAN	.	UPI0000073652	SNV	SWAP70,splice_acceptor_variant,,ENST00000447399,;SWAP70,splice_acceptor_variant,,ENST00000534662,;SWAP70,splice_acceptor_variant,,ENST00000318950,;SWAP70,splice_acceptor_variant,,ENST00000534562,;SWAP70,splice_acceptor_variant,,ENST00000524817,;SWAP70,downstream_gene_variant,,ENST00000531814,;SWAP70,downstream_gene_variant,,ENST00000526358,;	.	137	109	SUCCESS
SBF2	81846	.	GRCh37	11	9853870	9853870	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	111	0	ENST00000256190.8:c.3553T>C	p.Trp1185Arg	p.W1185R	ENST00000256190	NM_030962.3	1185	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS31427.1	3553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAACATA	NONE	.	.	Superfamily_domains:SSF52799,Pfam_domain:PF06602,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF4,PROSITE_profiles:PS51339	.	.	ENSP00000256190	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000256190	Transcript	.	.	ENSG00000133812	2135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	MTMRD_HUMAN	SBF2	HGNC	H0YDZ1_HUMAN	.	UPI00000622D5	SNV	SBF2,missense_variant,p.Trp1185Arg,ENST00000256190,;SBF2,missense_variant,p.Trp69Arg,ENST00000530741,;SBF2,upstream_gene_variant,,ENST00000533584,;	3691	111	93	SUCCESS
CLEC2B	9976	.	GRCh37	12	10005943	10005943	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	55	71	0	ENST00000228438.2:c.406T>C	p.Cys136Arg	p.C136R	ENST00000228438	NM_005127.2	136	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS8605.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACATCTAG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF137,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000228438	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228438	Transcript	.	.	ENSG00000110852	2053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0)	.	CLC2B_HUMAN	CLEC2B	HGNC	.	.	UPI000013C8D4	SNV	CLEC2B,missense_variant,p.Cys136Arg,ENST00000228438,;CLEC2B,missense_variant,p.Cys67Arg,ENST00000538152,;CLEC2B,downstream_gene_variant,,ENST00000540743,;CLEC2B,downstream_gene_variant,,ENST00000539028,;	1340	71	72	SUCCESS
UTP20	27340	.	GRCh37	12	101693811	101693811	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	167	263	1	ENST00000261637.4:c.1647G>T	p.Met549Ile	p.M549I	ENST00000261637	NM_014503.2	549	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS9081.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGACTGT	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	14/62	.	.	.	.	.	.	.	.	.	14/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.31)	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Met549Ile,ENST00000261637,;	1821	264	184	SUCCESS
CCDC53	0	.	GRCh37	12	102419817	102419817	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	59	0	ENST00000240079.6:c.436-1G>C		p.X146_splice	ENST00000240079	NM_016053.2	146		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44959.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCTAAGC	NONE	.	.	.	.	.	ENSP00000240079	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000240079	Transcript	.	.	ENSG00000120860	24256	.	.	HIGH	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD53_HUMAN	CCDC53	HGNC	F5H0A7_HUMAN	.	UPI00001254D2	SNV	CCDC53,splice_acceptor_variant,,ENST00000545679,;CCDC53,splice_acceptor_variant,,ENST00000240079,;CCDC53,splice_acceptor_variant,,ENST00000542923,;CCDC53,splice_acceptor_variant,,ENST00000539515,;CCDC53,splice_acceptor_variant,,ENST00000541569,;CCDC53,splice_acceptor_variant,,ENST00000535501,;CCDC53,splice_acceptor_variant,,ENST00000536197,;CCDC53,splice_acceptor_variant,,ENST00000544341,;CCDC53,splice_acceptor_variant,,ENST00000538761,;CCDC53,splice_acceptor_variant,,ENST00000540536,;	.	59	57	SUCCESS
TAS2R9	50835	.	GRCh37	12	10962090	10962091	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	152	23	128	0	ENST00000240691.2:c.584dup	p.Ile196AspfsTer12	p.I196Dfs*12	ENST00000240691	NM_023917.2	195	ctg/ctTg	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS8633.1	584-585	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGATCAGGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF29,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000240691	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000240691	Transcript	.	.	ENSG00000121381	14917	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TA2R9_HUMAN	TAS2R9	HGNC	.	.	UPI0000038B11	insertion	TAS2R9,frameshift_variant,p.Ile196AspfsTer12,ENST00000240691,;TAS2R8,upstream_gene_variant,,ENST00000240615,;	677-678	128	175	SUCCESS
VSIG10	54621	.	GRCh37	12	118533474	118533474	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	120	127	0	ENST00000359236.5:c.225A>T	p.Pro75=	p.P75=	ENST00000359236	NM_019086.5	75	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS44992.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTGGCCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF516,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000352172	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000359236	Transcript	.	.	ENSG00000176834	26078	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSI10_HUMAN	VSIG10	HGNC	.	.	UPI000007385F	SNV	VSIG10,synonymous_variant,p.%3D,ENST00000359236,;VSIG10,synonymous_variant,p.%3D,ENST00000538357,;VSIG10,non_coding_transcript_exon_variant,,ENST00000542011,;VSIG10,non_coding_transcript_exon_variant,,ENST00000541855,;VSIG10,non_coding_transcript_exon_variant,,ENST00000536905,;	502	127	126	SUCCESS
CACNA1C	775	.	GRCh37	12	2717739	2717739	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	16	88	0	ENST00000347598.4:c.3479T>A	p.Val1160Glu	p.V1160E	ENST00000347598	NM_199460.2	1160	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS44788.1	3479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGTGGAGA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000266376	.	28/49	.	.	.	.	.	.	.	.	.	28/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Val1140Glu,ENST00000399644,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399595,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000406454,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399617,;CACNA1C,missense_variant,p.Val1160Glu,ENST00000347598,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000402845,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000327702,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399634,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399641,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399603,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399629,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000480911,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399601,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399597,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399655,;CACNA1C,missense_variant,p.Val1160Glu,ENST00000399606,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399637,;CACNA1C,missense_variant,p.Val1165Glu,ENST00000335762,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399621,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399638,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399591,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000344100,;CACNA1C,missense_variant,p.Val1140Glu,ENST00000399649,;CACNA1C-AS3,upstream_gene_variant,,ENST00000543559,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000496818,;	3479	88	107	SUCCESS
TULP3	7289	.	GRCh37	12	3047308	3047308	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	87	99	0	ENST00000448120.2:c.1052A>T	p.Gln351Leu	p.Q351L	ENST00000448120	NM_003324.4	351	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS53737.1	1052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAGAACA	NONE	.	.	Superfamily_domains:SSF54518,Gene3D:3c5nA00,Pfam_domain:PF01167,hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF26	.	.	ENSP00000380321	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000397132	Transcript	.	.	ENSG00000078246	12425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious(0.01)	.	.	TULP3	HGNC	F8WBZ9_HUMAN,F5H7B9_HUMAN	.	UPI00001FBDC0	SNV	TULP3,missense_variant,p.Gln17Leu,ENST00000538704,;TULP3,missense_variant,p.Gln351Leu,ENST00000397132,;TULP3,missense_variant,p.Gln78Leu,ENST00000544943,;TULP3,missense_variant,p.Gln28Leu,ENST00000541678,;TULP3,missense_variant,p.Gln351Leu,ENST00000448120,;TULP3,3_prime_UTR_variant,,ENST00000538354,;TULP3,3_prime_UTR_variant,,ENST00000545331,;TULP3,downstream_gene_variant,,ENST00000540184,;	1093	100	118	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43826449	43826449	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	89	115	0	ENST00000389420.3:c.2886T>C	p.His962=	p.H962=	ENST00000389420	NM_025003.3	962	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS31778.2	2886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCATGGCA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000374071	.	20/39	.	.	.	.	.	.	.	.	.	20/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;ADAMTS20,synonymous_variant,p.%3D,ENST00000549670,;ADAMTS20,synonymous_variant,p.%3D,ENST00000395541,;	2886	115	134	SUCCESS
HDAC7	51564	.	GRCh37	12	48191236	48191236	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	49	62	0	ENST00000427332.2:c.391A>C	p.Ser131Arg	p.S131R	ENST00000427332		131	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS8756.2	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF58,PIRSF_domain:PIRSF037911	.	.	ENSP00000080059	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000080059	Transcript	.	.	ENSG00000061273	14067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	deleterious(0.04)	.	HDAC7_HUMAN	HDAC7	HGNC	F8VWY3_HUMAN,C9JZ79_HUMAN,C9JS90_HUMAN,C9JNI4_HUMAN,C9JH46_HUMAN,C9JGF5_HUMAN,C9JBC2_HUMAN,C9J102_HUMAN	.	UPI00001D9A86	SNV	HDAC7,missense_variant,p.Ser153Arg,ENST00000552960,;HDAC7,missense_variant,p.Ser187Arg,ENST00000380610,;HDAC7,missense_variant,p.Ser170Arg,ENST00000354334,;HDAC7,missense_variant,p.Ser131Arg,ENST00000421231,;HDAC7,missense_variant,p.Ser131Arg,ENST00000447463,;HDAC7,missense_variant,p.Ser131Arg,ENST00000434070,;HDAC7,missense_variant,p.Ser170Arg,ENST00000080059,;HDAC7,missense_variant,p.Ser131Arg,ENST00000427332,;HDAC7,intron_variant,,ENST00000422254,;HDAC7,intron_variant,,ENST00000430670,;HDAC7,intron_variant,,ENST00000440293,;HDAC7,downstream_gene_variant,,ENST00000417902,;HDAC7,downstream_gene_variant,,ENST00000445237,;HDAC7,downstream_gene_variant,,ENST00000417107,;HDAC7,downstream_gene_variant,,ENST00000450805,;HDAC7,downstream_gene_variant,,ENST00000433685,;HDAC7,upstream_gene_variant,,ENST00000477937,;HDAC7,missense_variant,p.Ser131Arg,ENST00000477203,;HDAC7,missense_variant,p.Ser14Arg,ENST00000485796,;HDAC7,missense_variant,p.Gln90Pro,ENST00000425451,;HDAC7,non_coding_transcript_exon_variant,,ENST00000470668,;HDAC7,upstream_gene_variant,,ENST00000491464,;HDAC7,upstream_gene_variant,,ENST00000548938,;HDAC7,upstream_gene_variant,,ENST00000459625,;HDAC7,upstream_gene_variant,,ENST00000463732,;	508	62	65	SUCCESS
LARP4	113251	.	GRCh37	12	50869368	50869368	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	43	144	0	ENST00000398473.2:c.1896A>T	p.Ser632=	p.S632=	ENST00000398473	NM_199188.2	632	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS41782.1	1896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGTTCT	NONE	.	.	hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792	.	.	ENSP00000381490	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000398473	Transcript	.	.	ENSG00000161813	24320	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LARP4_HUMAN	LARP4	HGNC	Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN	.	UPI00002293C3	SNV	LARP4,synonymous_variant,p.%3D,ENST00000520064,;LARP4,synonymous_variant,p.%3D,ENST00000398473,;LARP4,synonymous_variant,p.%3D,ENST00000293618,;LARP4,synonymous_variant,p.%3D,ENST00000347328,;LARP4,synonymous_variant,p.%3D,ENST00000429001,;LARP4,synonymous_variant,p.%3D,ENST00000518444,;	2008	144	159	SUCCESS
KCNA5	3741	.	GRCh37	12	5153590	5153590	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1310058581	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	21	31	0	ENST00000252321.3:c.277C>T	p.Pro93Ser	p.P93S	ENST00000252321	NM_002234.3	93	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8536.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCCCGAG	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01512	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.58)	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Pro93Ser,ENST00000252321,;	506	31	28	SUCCESS
STAT6	6778	.	GRCh37	12	57498539	57498539	+	synonymous_variant	Silent	SNP	C	C	G	rs1441640359	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	66	0	ENST00000300134.3:c.1059G>C	p.Gly353=	p.G353=	ENST00000300134	NM_001178078.1	353	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS8931.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCCCAGG	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF45,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417	.	.	ENSP00000300134	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000300134	Transcript	.	.	ENSG00000166888	11368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAT6_HUMAN	STAT6	HGNC	Q6LCD8_HUMAN,Q5FBW6_HUMAN,G3V5K5_HUMAN,G3V568_HUMAN,G3V3E9_HUMAN,G3V370_HUMAN,G3V2X7_HUMAN,G3V2M3_HUMAN,G3V2L2_HUMAN,G3V2H4_HUMAN	.	UPI00000473FE	SNV	STAT6,synonymous_variant,p.%3D,ENST00000454075,;STAT6,synonymous_variant,p.%3D,ENST00000553533,;STAT6,synonymous_variant,p.%3D,ENST00000538913,;STAT6,synonymous_variant,p.%3D,ENST00000537215,;STAT6,synonymous_variant,p.%3D,ENST00000300134,;STAT6,synonymous_variant,p.%3D,ENST00000543873,;STAT6,synonymous_variant,p.%3D,ENST00000556155,;STAT6,downstream_gene_variant,,ENST00000555849,;STAT6,upstream_gene_variant,,ENST00000555375,;STAT6,downstream_gene_variant,,ENST00000553397,;STAT6,downstream_gene_variant,,ENST00000553275,;STAT6,downstream_gene_variant,,ENST00000557635,;STAT6,downstream_gene_variant,,ENST00000556259,;STAT6,downstream_gene_variant,,ENST00000554825,;STAT6,downstream_gene_variant,,ENST00000553499,;STAT6,downstream_gene_variant,,ENST00000554663,;STAT6,upstream_gene_variant,,ENST00000555318,;STAT6,3_prime_UTR_variant,,ENST00000554764,;STAT6,non_coding_transcript_exon_variant,,ENST00000557781,;STAT6,non_coding_transcript_exon_variant,,ENST00000555641,;STAT6,downstream_gene_variant,,ENST00000555104,;STAT6,upstream_gene_variant,,ENST00000555222,;	1385	66	65	SUCCESS
C12orf56	115749	.	GRCh37	12	64724758	64724758	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768626423	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	55	60	0	ENST00000543942.2:c.470T>A	p.Leu157Gln	p.L157Q	ENST00000543942	NM_001170633.1	157	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS44935.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCAGACTT	NONE	byFrequency	.	Pfam_domain:PF15087	.	.	ENSP00000329698	.	3/11	.	.	.	.	.	.	.	.	rs768626423	3/11	PASS	ENST00000333722	Transcript	.	.	ENSG00000185306	26967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	tolerated(0.1)	.	CL056_HUMAN	C12orf56	HGNC	.	.	UPI00001D7985	SNV	C12orf56,missense_variant,p.Leu157Gln,ENST00000543942,;C12orf56,missense_variant,p.Leu144Gln,ENST00000543259,;C12orf56,missense_variant,p.Leu157Gln,ENST00000333722,;RPS11P6,intron_variant,,ENST00000535684,;	596	60	67	SUCCESS
LEPREL2	0	.	GRCh37	12	6939521	6939521	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs868978668	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	31	121	0	ENST00000290510.8:n.189C>T		p.*63*	ENST00000290510		218		0	.	.	.	.	.	T	A/V	protein_coding	YES	.	653	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCTATG	NONE	.	.	hmmpanther:PTHR14049:SF14,hmmpanther:PTHR14049	.	.	ENSP00000379951	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000396725	Transcript	.	.	ENSG00000110811	19318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.615)	.	tolerated(0.11)	.	.	LEPREL2	HGNC	G8JLI6_HUMAN	.	UPI00001AF55A	SNV	LEPREL2,missense_variant,p.Ala34Val,ENST00000251761,;LEPREL2,missense_variant,p.Ala218Val,ENST00000396725,;GPR162,downstream_gene_variant,,ENST00000545321,;GPR162,downstream_gene_variant,,ENST00000428545,;GPR162,downstream_gene_variant,,ENST00000382315,;GPR162,downstream_gene_variant,,ENST00000311268,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544813,;GPR162,downstream_gene_variant,,ENST00000542330,;LEPREL2,upstream_gene_variant,,ENST00000538102,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000290510,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000536140,;LEPREL2,upstream_gene_variant,,ENST00000544949,;LEPREL2,upstream_gene_variant,,ENST00000541956,;LEPREL2,upstream_gene_variant,,ENST00000544200,;LEPREL2,upstream_gene_variant,,ENST00000545596,;LEPREL2,upstream_gene_variant,,ENST00000540406,;LEPREL2,upstream_gene_variant,,ENST00000542976,;LEPREL2,missense_variant,p.Pro219Ser,ENST00000606935,;	687	121	167	SUCCESS
FAM86FP	653113	.	GRCh37	12	8386983	8386983	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs768394839	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	12	0	ENST00000338711.5:n.764G>C		p.*255*	ENST00000338711				0	.	G:0	.	G:0	.	G	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCGACCA	BUFFER|p.R260Q|c.779G>A|3	by1000G	1028	.	G:0.001	.	.	G:0	.	.	.	.	.	.	.	.	.	rs768394839	.	PASS	ENST00000304751	Transcript	.	.	ENSG00000215241	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	.	RP11-266K4.9	Clone_based_vega_gene	.	.	.	SNV	RP11-266K4.9,upstream_gene_variant,,ENST00000536034,;RP11-266K4.9,upstream_gene_variant,,ENST00000399866,;AC092111.1,downstream_gene_variant,,ENST00000583174,;RP11-266K4.9,upstream_gene_variant,,ENST00000304751,;FAM86FP,non_coding_transcript_exon_variant,,ENST00000427893,;FAM86FP,non_coding_transcript_exon_variant,,ENST00000338711,;ALG1L10P,downstream_gene_variant,,ENST00000437882,;	.	12	28	SUCCESS
SLC6A15	55117	.	GRCh37	12	85266977	85266977	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	238	239	1	ENST00000266682.5:c.998A>T	p.Asp333Val	p.D333V	ENST00000266682	NM_182767.5	333	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9026.1	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATCAAAG	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000266682	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Asp41Val,ENST00000309283,;SLC6A15,missense_variant,p.Asp226Val,ENST00000552192,;SLC6A15,missense_variant,p.Asp49Val,ENST00000551612,;SLC6A15,missense_variant,p.Asp333Val,ENST00000266682,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000551388,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000551818,;	1540	240	324	SUCCESS
SACS	26278	.	GRCh37	13	23911609	23911609	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1566066009	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	135	0	ENST00000382292.3:c.6406A>T	p.Thr2136Ser	p.T2136S	ENST00000382292		2136	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9300.2	6406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTAGAAC	BUFFER|p.Q1990E|c.5968C>G|3	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Thr2136Ser,ENST00000382292,;SACS,missense_variant,p.Thr1386Ser,ENST00000402364,;SACS,missense_variant,p.Thr2136Ser,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	6995	136	67	SUCCESS
WASF3	10810	.	GRCh37	13	27239184	27239184	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	67	0	ENST00000335327.5:c.153A>G	p.Ile51Met	p.I51M	ENST00000335327	NM_006646.5	51	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS9318.1	153	RADIA|MUTECT|MUSE	.	GACATATTTGG	NONE	.	.	hmmpanther:PTHR12902:SF7,hmmpanther:PTHR12902	.	.	ENSP00000335055	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000335327	Transcript	.	.	ENSG00000132970	12734	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.37)	.	deleterious(0.01)	.	WASF3_HUMAN	WASF3	HGNC	Q5T8P4_HUMAN,B4DGR1_HUMAN	.	UPI000013CEA7	SNV	WASF3,missense_variant,p.Ile51Met,ENST00000361042,;WASF3,missense_variant,p.Ile51Met,ENST00000335327,;WASF3,non_coding_transcript_exon_variant,,ENST00000496788,;	331	67	37	SUCCESS
FLT1	2321	.	GRCh37	13	29001941	29001941	+	synonymous_variant	Silent	SNP	G	G	A	rs898618342	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	77	0	ENST00000282397.4:c.1224C>T	p.Ser408=	p.S408=	ENST00000282397	NM_002019.4	408	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9330.1	1224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATGCTCAG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000282397	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,synonymous_variant,p.%3D,ENST00000539099,;FLT1,synonymous_variant,p.%3D,ENST00000282397,;FLT1,synonymous_variant,p.%3D,ENST00000541932,;	1476	77	36	SUCCESS
EPSTI1	94240	.	GRCh37	13	43469145	43469145	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	79	0	ENST00000398762.3:c.948G>T	p.Trp316Cys	p.W316C	ENST00000398762		316	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS31964.1	948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCCAGCT	NONE	.	.	hmmpanther:PTHR22529:SF1,hmmpanther:PTHR22529	.	.	ENSP00000318982	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000313640	Transcript	.	.	ENSG00000133106	16465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	ESIP1_HUMAN	EPSTI1	HGNC	F5H799_HUMAN	.	UPI0000074657	SNV	EPSTI1,missense_variant,p.Trp316Cys,ENST00000313640,;EPSTI1,missense_variant,p.Trp305Cys,ENST00000313624,;EPSTI1,missense_variant,p.Trp316Cys,ENST00000398762,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000535677,;EPSTI1,splice_region_variant,,ENST00000540470,;	1013	79	20	SUCCESS
EPSTI1	94240	.	GRCh37	13	43469146	43469146	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	77	0	ENST00000398762.3:c.947G>T	p.Trp316Leu	p.W316L	ENST00000398762		316	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS31964.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCAGCTG	NONE	.	.	hmmpanther:PTHR22529:SF1,hmmpanther:PTHR22529	.	.	ENSP00000318982	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000313640	Transcript	.	.	ENSG00000133106	16465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	ESIP1_HUMAN	EPSTI1	HGNC	F5H799_HUMAN	.	UPI0000074657	SNV	EPSTI1,missense_variant,p.Trp316Leu,ENST00000313640,;EPSTI1,missense_variant,p.Trp305Leu,ENST00000313624,;EPSTI1,missense_variant,p.Trp316Leu,ENST00000398762,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000535677,;EPSTI1,splice_region_variant,,ENST00000540470,;	1012	77	20	SUCCESS
RB1	5925	.	GRCh37	13	49027173	49027173	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	43	0	ENST00000267163.4:c.1740A>C	p.Glu580Asp	p.E580D	ENST00000267163	NM_000321.2	580	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS31973.1	1740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAAGGACC	BUFFER|p.R579*|c.1735C>T|8,BUFFER|p.R579*|c.1735C>T|4	.	.	hmmpanther:PTHR13742	.	.	ENSP00000267163	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.16)	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,missense_variant,p.Glu580Asp,ENST00000267163,;RB1,non_coding_transcript_exon_variant,,ENST00000480491,;	1878	43	29	SUCCESS
ABCC4	10257	.	GRCh37	13	95816633	95816633	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	94	0	ENST00000376887.4:c.2174A>T	p.Gln725Leu	p.Q725L	ENST00000376887	NM_005845.3	725	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9474.1	2174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTGAGCT	NONE	.	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50929,Transmembrane_helices:TMhelix	.	.	ENSP00000366084	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000376887	Transcript	.	.	ENSG00000125257	55	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.01)	.	MRP4_HUMAN	ABCC4	HGNC	Q8IUA3_HUMAN	.	UPI00001A36E6	SNV	ABCC4,missense_variant,p.Gln725Leu,ENST00000431522,;ABCC4,missense_variant,p.Gln725Leu,ENST00000376887,;ABCC4,missense_variant,p.Gln650Leu,ENST00000536256,;ABCC4,intron_variant,,ENST00000412704,;ABCC4,downstream_gene_variant,,ENST00000538287,;	2289	94	58	SUCCESS
BAG5	9529	.	GRCh37	14	104026798	104026798	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141215432	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	78	0	ENST00000299204.4:c.704G>A	p.Arg235Gln	p.R235Q	ENST00000299204	NM_001015048.2	235	cGg/cAg	0	T:0.0111	T:0.0121	.	T:0	.	T	R/Q	protein_coding	YES	CCDS41995.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCGGCCG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF63491,SMART_domains:SM00264,Pfam_domain:PF02179,Gene3D:1.20.58.120,hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF2,PROSITE_profiles:PS51035	T:0	T:0.0001	ENSP00000338814	T:0	2/2	.	.	.	.	.	.	.	.	rs141215432	2/2	common_in_exac	ENST00000337322	Transcript	.	T:0.0032	ENSG00000166170	941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	T:0	tolerated_low_confidence(0.26)	.	BAG5_HUMAN	BAG5	HGNC	G3V274_HUMAN	.	UPI00001FDC93	SNV	BAG5,missense_variant,p.Arg235Gln,ENST00000299204,;BAG5,missense_variant,p.Arg276Gln,ENST00000337322,;BAG5,missense_variant,p.Arg235Gln,ENST00000445922,;KLC1,upstream_gene_variant,,ENST00000557172,;APOPT1,upstream_gene_variant,,ENST00000440963,;RP11-73M18.2,upstream_gene_variant,,ENST00000472726,;BAG5,downstream_gene_variant,,ENST00000557666,;APOPT1,upstream_gene_variant,,ENST00000247618,;APOPT1,upstream_gene_variant,,ENST00000409074,;APOPT1,upstream_gene_variant,,ENST00000495778,;APOPT1,upstream_gene_variant,,ENST00000556253,;RP11-894P9.2,intron_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000477116,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000492189,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,upstream_gene_variant,,ENST00000489117,;APOPT1,upstream_gene_variant,,ENST00000554625,;APOPT1,upstream_gene_variant,,ENST00000458117,;	1118	78	85	SUCCESS
PPP1R13B	23368	.	GRCh37	14	104209017	104209017	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	27	59	0	ENST00000202556.9:c.1294T>G	p.Ser432Ala	p.S432A	ENST00000202556	NM_015316.2	432	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS41997.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGAGAAGG	NONE	.	.	hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5	.	.	ENSP00000202556	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000202556	Transcript	.	.	ENSG00000088808	14950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.29)	.	ASPP1_HUMAN	PPP1R13B	HGNC	G3V5J1_HUMAN	.	UPI000049DDC7	SNV	PPP1R13B,missense_variant,p.Ser432Ala,ENST00000202556,;PPP1R13B,5_prime_UTR_variant,,ENST00000423488,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555391,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,intron_variant,,ENST00000555991,;PPP1R13B,downstream_gene_variant,,ENST00000555708,;PPP1R13B,downstream_gene_variant,,ENST00000555183,;PPP1R13B,missense_variant,p.Ser88Ala,ENST00000556597,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000557744,;PPP1R13B,upstream_gene_variant,,ENST00000556334,;PPP1R13B,upstream_gene_variant,,ENST00000557587,;PPP1R13B,upstream_gene_variant,,ENST00000554432,;PPP1R13B,upstream_gene_variant,,ENST00000555825,;	1577	59	49	SUCCESS
RNASE1	6035	.	GRCh37	14	21270099	21270099	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	38	0	ENST00000340900.3:c.129A>T	p.Ser43=	p.S43=	ENST00000340900	NM_198234.2	43	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9559.1	129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTGAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF24,Pfam_domain:PF00074,Gene3D:3.10.130.10,SMART_domains:SM00092,Superfamily_domains:SSF54076	.	.	ENSP00000381057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397967	Transcript	.	.	ENSG00000129538	10044	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNAS1_HUMAN	RNASE1	HGNC	G3V357_HUMAN	.	UPI000013448E	SNV	RNASE1,synonymous_variant,p.%3D,ENST00000340900,;RNASE1,synonymous_variant,p.%3D,ENST00000397970,;RNASE1,synonymous_variant,p.%3D,ENST00000412779,;RNASE1,synonymous_variant,p.%3D,ENST00000397967,;RNASE1,synonymous_variant,p.%3D,ENST00000555698,;	636	38	40	SUCCESS
OR10G3	26533	.	GRCh37	14	22038449	22038449	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376143433	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	80	0	ENST00000303532.1:c.427G>T	p.Ala143Ser	p.A143S	ENST00000303532	NM_001005465.1	143	Gcc/Tcc	0	T:0	.	.	.	.	A	A/S	protein_coding	YES	CCDS32046.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCGCTCA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF69,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	T:0.0001	ENSP00000302437	.	1/1	.	.	.	.	.	.	.	.	rs376143433	1/1	PASS	ENST00000303532	Transcript	.	.	ENSG00000169208	8171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.29)	.	O10G3_HUMAN	OR10G3	HGNC	.	.	UPI000003CAB2	SNV	OR10G3,missense_variant,p.Ala143Ser,ENST00000303532,;	427	80	49	SUCCESS
DACT1	51339	.	GRCh37	14	59112597	59112597	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	51	0	ENST00000335867.4:c.1256G>T	p.Trp419Leu	p.W419L	ENST00000335867		419	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS9736.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTGGTCGA	NONE	.	.	hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268	.	.	ENSP00000337439	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	tolerated(0.6)	.	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	SNV	DACT1,missense_variant,p.Trp419Leu,ENST00000335867,;DACT1,missense_variant,p.Trp382Leu,ENST00000395153,;DACT1,missense_variant,p.Trp138Leu,ENST00000556859,;DACT1,missense_variant,p.Trp138Leu,ENST00000541264,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	1280	51	32	SUCCESS
SYNE2	23224	.	GRCh37	14	64522760	64522760	+	synonymous_variant	Silent	SNP	C	C	G	rs373355920	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	55	210	0	ENST00000344113.4:c.9843C>G	p.Pro3281=	p.P3281=	ENST00000344113	NM_015180.4	3281	ccC/ccG	0	A:0.0005	.	.	.	.	G	P	protein_coding	YES	CCDS9761.2	9843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCCTACAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Superfamily_domains:SSF46966	.	A:0	ENSP00000350719	.	49/116	.	.	.	.	.	.	.	.	rs373355920,COSM193944	49/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,synonymous_variant,p.%3D,ENST00000554584,;SYNE2,synonymous_variant,p.%3D,ENST00000358025,;SYNE2,synonymous_variant,p.%3D,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;	10073	210	165	SUCCESS
EXD2	55218	.	GRCh37	14	69676318	69676318	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	54	100	0	ENST00000312994.5:c.131A>T	p.Gln44Leu	p.Q44L	ENST00000312994		44	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS53902.1	131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGCAGA	NONE	.	.	hmmpanther:PTHR13620:SF0,hmmpanther:PTHR13620	.	.	ENSP00000387331	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000409018	Transcript	.	.	ENSG00000081177	20217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated_low_confidence(0.3)	.	EXD2_HUMAN	EXD2	HGNC	C9JLF4_HUMAN	.	UPI0000577ED7	SNV	EXD2,missense_variant,p.Gln44Leu,ENST00000409018,;EXD2,missense_variant,p.Gln44Leu,ENST00000312994,;EXD2,5_prime_UTR_variant,,ENST00000413191,;EXD2,5_prime_UTR_variant,,ENST00000409014,;EXD2,5_prime_UTR_variant,,ENST00000409949,;EXD2,5_prime_UTR_variant,,ENST00000409242,;EXD2,intron_variant,,ENST00000409675,;EXD2,upstream_gene_variant,,ENST00000449989,;RP11-363J20.1,intron_variant,,ENST00000554898,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,downstream_gene_variant,,ENST00000461908,;EXD2,downstream_gene_variant,,ENST00000487724,;	259	100	80	SUCCESS
SLC10A1	6554	.	GRCh37	14	70263762	70263764	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-	rs1299867672	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	GAA	GAA	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	109	0	ENST00000216540.4:c.109_111del	p.Phe37del	p.F37del	ENST00000216540	NM_003049.3	37	TTC/-	0	.	.	.	.	.	-	F/-	protein_coding	YES	CCDS9797.1	109-111	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGATGAAGAACA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18	.	.	ENSP00000216540	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000216540	Transcript	.	.	ENSG00000100652	10905	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NTCP_HUMAN	SLC10A1	HGNC	Q9UK36_HUMAN	.	UPI0000130576	deletion	SLC10A1,inframe_deletion,p.Phe37del,ENST00000216540,;	243-245	109	75	SUCCESS
MLH3	27030	.	GRCh37	14	75505088	75505088	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	72	0	ENST00000355774.2:c.3598A>G	p.Ile1200Val	p.I1200V	ENST00000355774	NM_001040108.1	1200	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32123.1	3598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAATAAACT	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7,SMART_domains:SM00853,Superfamily_domains:0050888	.	.	ENSP00000348020	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.04)	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	SNV	MLH3,missense_variant,p.Ile160Val,ENST00000544985,;MLH3,missense_variant,p.Ile224Val,ENST00000553713,;MLH3,missense_variant,p.Ile146Val,ENST00000380968,;MLH3,missense_variant,p.Ile1200Val,ENST00000238662,;MLH3,missense_variant,p.Ile1200Val,ENST00000556740,;MLH3,missense_variant,p.Ile1200Val,ENST00000355774,;MLH3,intron_variant,,ENST00000556257,;MLH3,intron_variant,,ENST00000555499,;MLH3,downstream_gene_variant,,ENST00000555671,;MLH3,missense_variant,p.Ile161Val,ENST00000555144,;MLH3,intron_variant,,ENST00000556453,;	3814	72	53	SUCCESS
IGHV4OR15-8	28317	.	GRCh37	15	22473052	22473052	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774325530	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	22	304	0	ENST00000557788.2:c.219T>A	p.His73Gln	p.H73Q	ENST00000557788		73	caT/caA	0	.	.	.	.	.	T	H/Q	IG_V_gene	YES	.	219	RADIA|MUTECT|MUSE|VARSCANS	.	CCACTATGATA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000473987	.	2/2	.	.	.	.	.	.	.	.	rs774325530	2/2	PASS	ENST00000557788	Transcript	.	.	ENSG00000259261	5658	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.14)	.	IV4F8_HUMAN	IGHV4OR15-8	HGNC	.	.	UPI0003335098	SNV	IGHV4OR15-8,missense_variant,p.His73Gln,ENST00000557788,;	219	304	183	SUCCESS
HERC2	8924	.	GRCh37	15	28460799	28460799	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs558450056	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	59	111	0	ENST00000261609.7:c.6178G>C	p.Ala2060Pro	p.A2060P	ENST00000261609	NM_004667.5	2060	Gca/Cca	0	.	A:0	.	A:0	.	G	A/P	protein_coding	YES	CCDS10021.1	6178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGCGTGCC	NONE	by1000G	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	A:0	.	ENSP00000261609	A:0.001	39/93	.	.	.	.	.	.	.	.	rs558450056,COSM317458	39/93	PASS	ENST00000261609	Transcript	1	A:0.0002	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.021)	A:0	.	0,1	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Ala2060Pro,ENST00000261609,;	6287	111	93	SUCCESS
TMCO5A	145942	.	GRCh37	15	38228513	38228513	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	63	0	ENST00000319669.4:c.-10-2A>T		p.X4_splice	ENST00000319669	NM_152453.2	4		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10046.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATAGGTCG	NONE	.	.	.	.	.	ENSP00000327234	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319669	Transcript	.	.	ENSG00000166069	28558	.	.	HIGH	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC5A_HUMAN	TMCO5A	HGNC	H0YLW5_HUMAN,H0YLN2_HUMAN,H0YLD3_HUMAN,H0YL40_HUMAN	.	UPI00001BBFD2	SNV	TMCO5A,splice_acceptor_variant,,ENST00000558158,;TMCO5A,splice_acceptor_variant,,ENST00000319669,;TMCO5A,splice_acceptor_variant,,ENST00000559502,;TMCO5A,splice_acceptor_variant,,ENST00000558625,;TMCO5A,splice_acceptor_variant,,ENST00000560841,;TMCO5A,splice_acceptor_variant,,ENST00000558148,;TMCO5A,splice_acceptor_variant,,ENST00000540944,;TMCO5A,splice_acceptor_variant,,ENST00000560653,;TMCO5A,splice_acceptor_variant,,ENST00000559813,;	.	63	61	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42137485	42137485	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1225609165	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	81	0	ENST00000382448.4:c.2017A>G	p.Lys673Glu	p.K673E	ENST00000382448		673	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS32202.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCAAAGGG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF31,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,Pfam_domain:PF01735,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000441905	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000542534	Transcript	.	.	ENSG00000243708	9036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	.	PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	PLA2G4B,missense_variant,p.Lys442Glu,ENST00000458483,;JMJD7-PLA2G4B,missense_variant,p.Lys673Glu,ENST00000342159,;PLA2G4B,missense_variant,p.Lys673Glu,ENST00000542534,;JMJD7-PLA2G4B,missense_variant,p.Lys673Glu,ENST00000382448,;PLA2G4B,missense_variant,p.Lys442Glu,ENST00000452633,;PLA2G4B,upstream_gene_variant,,ENST00000569354,;SPTBN5,downstream_gene_variant,,ENST00000320955,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000476036,;JMJD7-PLA2G4B,3_prime_UTR_variant,,ENST00000487292,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,non_coding_transcript_exon_variant,,ENST00000483748,;PLA2G4B,downstream_gene_variant,,ENST00000461382,;PLA2G4B,upstream_gene_variant,,ENST00000566076,;SPTBN5,downstream_gene_variant,,ENST00000563899,;	2057	81	44	SUCCESS
TP53BP1	7158	.	GRCh37	15	43700285	43700285	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	61	0	ENST00000382044.4:c.5602C>A	p.Gln1868Lys	p.Q1868K	ENST00000382044	NM_001141980.1	1868	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS45250.1	5602	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTGCCTAT	NONE	.	.	Superfamily_domains:SSF52113,Gene3D:3.40.50.10190,hmmpanther:PTHR15321	.	.	ENSP00000371475	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000382044	Transcript	.	.	ENSG00000067369	11999	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.431)	.	deleterious(0.02)	.	TP53B_HUMAN	TP53BP1	HGNC	B3KVT9_HUMAN	.	UPI0000D720ED	SNV	TP53BP1,missense_variant,p.Gln1863Lys,ENST00000263801,;TP53BP1,missense_variant,p.Gln1818Lys,ENST00000382039,;TP53BP1,missense_variant,p.Gln1866Lys,ENST00000450115,;TP53BP1,missense_variant,p.Gln1868Lys,ENST00000382044,;TUBGCP4,downstream_gene_variant,,ENST00000260383,;TUBGCP4,downstream_gene_variant,,ENST00000564079,;TP53BP1,downstream_gene_variant,,ENST00000434595,;TUBGCP4,downstream_gene_variant,,ENST00000399460,;TUBGCP4,downstream_gene_variant,,ENST00000563147,;TUBGCP4,downstream_gene_variant,,ENST00000565548,;TP53BP1,splice_region_variant,,ENST00000476454,;TP53BP1,splice_region_variant,,ENST00000411772,;TUBGCP4,downstream_gene_variant,,ENST00000566251,;TUBGCP4,downstream_gene_variant,,ENST00000563963,;TUBGCP4,downstream_gene_variant,,ENST00000561691,;	5730	61	32	SUCCESS
SLC12A1	6557	.	GRCh37	15	48577419	48577419	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	83	202	0	ENST00000380993.3:c.2602A>T	p.Asn868Tyr	p.N868Y	ENST00000380993	NM_000338.2	868	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS53940.1	2602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGAACATT	NONE	.	.	hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,TIGRFAM_domain:TIGR00930	.	.	ENSP00000379822	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	deleterious(0.02)	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,missense_variant,p.Asn868Tyr,ENST00000558405,;SLC12A1,missense_variant,p.Asn868Tyr,ENST00000396577,;SLC12A1,missense_variant,p.Asn868Tyr,ENST00000380993,;SLC12A1,downstream_gene_variant,,ENST00000559641,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000560692,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000558252,;	2817	203	144	SUCCESS
PRTG	283659	.	GRCh37	15	55931838	55931838	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	97	0	ENST00000389286.4:c.2324+2T>A		p.X775_splice	ENST00000389286	NM_173814.4	775		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42040.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATACGTTT	NONE	.	.	.	.	.	ENSP00000373937	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	HIGH	13/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,splice_donor_variant,,ENST00000389286,;	.	97	86	SUCCESS
RFX7	64864	.	GRCh37	15	56388218	56388218	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	61	0	ENST00000559447.2:c.1417G>A	p.Gly473Arg	p.G473R	ENST00000559447		473	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	.	1708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCAAAA	NONE	.	.	hmmpanther:PTHR12619:SF2,hmmpanther:PTHR12619	.	.	ENSP00000397644	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000423270	Transcript	.	.	ENSG00000181827	25777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	.	deleterious_low_confidence(0)	.	RFX7_HUMAN	RFX7	HGNC	H0YMH6_HUMAN,H0YLP2_HUMAN	.	UPI000057809D	SNV	RFX7,missense_variant,p.Gly570Arg,ENST00000423270,;RFX7,missense_variant,p.Gly473Arg,ENST00000559447,;RFX7,missense_variant,p.Gly570Arg,ENST00000317318,;RFX7,missense_variant,p.Gly473Arg,ENST00000422057,;RFX7,missense_variant,p.Gly473Arg,ENST00000559847,;	1708	61	28	SUCCESS
MNS1	55329	.	GRCh37	15	56757225	56757225	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	41	0	ENST00000260453.3:c.-55C>A		p.*19*	ENST00000260453	NM_018365.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10158.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCGCAAAC	NONE	.	.	.	.	.	ENSP00000260453	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000260453	Transcript	.	.	ENSG00000138587	29636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MNS1_HUMAN	MNS1	HGNC	B3KQ70_HUMAN	.	UPI0000070061	SNV	MNS1,5_prime_UTR_variant,,ENST00000260453,;MNS1,non_coding_transcript_exon_variant,,ENST00000558694,;	111	41	34	SUCCESS
IGDCC4	57722	.	GRCh37	15	65689172	65689172	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs767900209	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	38	0	ENST00000352385.2:c.997G>T	p.Ala333Ser	p.A333S	ENST00000352385	NM_020962.1	333	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10206.1	997	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCCAGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000319623	.	6/20	.	.	.	.	.	.	.	.	rs767900209	6/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.283)	.	deleterious(0.01)	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,missense_variant,p.Ala333Ser,ENST00000352385,;IGDCC4,upstream_gene_variant,,ENST00000559327,;	1207	38	23	SUCCESS
PTPLAD1	0	.	GRCh37	15	65822854	65822854	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	40	0	ENST00000261875.5:c.-116C>T		p.*39*	ENST00000261875	NM_016395.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGCAGGCG	NONE	.	.	.	.	.	ENSP00000261875	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000261875	Transcript	.	.	ENSG00000074696	24175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HACD3_HUMAN	PTPLAD1	HGNC	H3BRL8_HUMAN,H3BMZ1_HUMAN	.	UPI00001D6EF0	SNV	PTPLAD1,5_prime_UTR_variant,,ENST00000261875,;PTPLAD1,5_prime_UTR_variant,,ENST00000568793,;PTPLAD1,5_prime_UTR_variant,,ENST00000562901,;PTPLAD1,5_prime_UTR_variant,,ENST00000442729,;PTPLAD1,5_prime_UTR_variant,,ENST00000565299,;PTPLAD1,upstream_gene_variant,,ENST00000566074,;PTPLAD1,upstream_gene_variant,,ENST00000566511,;PTPLAD1,upstream_gene_variant,,ENST00000566239,;	51	40	25	SUCCESS
RLBP1	6017	.	GRCh37	15	89754011	89754011	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	81	186	0	ENST00000268125.5:c.714C>A	p.Ile238=	p.I238=	ENST00000268125	NM_000326.4	238	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS32324.1	714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGGATGGC	NONE	.	.	Prints_domain:PR00180,Superfamily_domains:SSF52087,SMART_domains:SM00516,Gene3D:3.40.525.10,Pfam_domain:PF00650,hmmpanther:PTHR10174:SF99,hmmpanther:PTHR10174,PROSITE_profiles:PS50191	.	.	ENSP00000268125	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000268125	Transcript	1	.	ENSG00000140522	10024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RLBP1_HUMAN	RLBP1	HGNC	.	.	UPI0000000C59	SNV	RLBP1,synonymous_variant,p.%3D,ENST00000268125,;RLBP1,intron_variant,,ENST00000563254,;RLBP1,3_prime_UTR_variant,,ENST00000567787,;	1154	186	195	SUCCESS
KIAA0430	0	.	GRCh37	16	15727694	15727694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	49	103	0	ENST00000396368.3:c.1013C>A	p.Pro338Gln	p.P338Q	ENST00000396368	NM_001184998.1	338	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS10562.2	1013	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGGTGAC	NONE	.	.	hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379	.	.	ENSP00000379654	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000396368	Transcript	.	.	ENSG00000166783	29562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	deleterious_low_confidence(0)	.	MARF1_HUMAN	KIAA0430	HGNC	F8VRS5_HUMAN	.	UPI00006881BC	SNV	KIAA0430,missense_variant,p.Pro338Gln,ENST00000551742,;KIAA0430,missense_variant,p.Pro338Gln,ENST00000540441,;KIAA0430,missense_variant,p.Pro160Gln,ENST00000344181,;KIAA0430,missense_variant,p.Pro338Gln,ENST00000396368,;KIAA0430,splice_region_variant,,ENST00000602337,;KIAA0430,splice_region_variant,,ENST00000548025,;KIAA0430,downstream_gene_variant,,ENST00000549219,;KIAA0430,missense_variant,p.Pro338Gln,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000548216,;	1220	103	124	SUCCESS
MYH11	4629	.	GRCh37	16	15853461	15853461	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	112	0	ENST00000300036.5:c.1373T>A	p.Leu458Gln	p.L458Q	ENST00000300036	NM_002474.2	458	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS45423.1	1394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCAGGATC	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000379616	.	13/42	.	.	.	.	.	.	.	.	.	13/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,missense_variant,p.Leu465Gln,ENST00000452625,;MYH11,missense_variant,p.Leu458Gln,ENST00000576790,;MYH11,missense_variant,p.Leu458Gln,ENST00000300036,;MYH11,missense_variant,p.Leu465Gln,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	1482	112	115	SUCCESS
FLYWCH1	84256	.	GRCh37	16	2980531	2980531	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	46	0	ENST00000253928.9:c.446A>G	p.Gln149Arg	p.Q149R	ENST00000253928		149	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS45390.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCAACATG	NONE	.	.	hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF2,Pfam_domain:PF04500	.	.	ENSP00000399938	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000416288	Transcript	.	.	ENSG00000059122	25404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.03)	.	FWCH1_HUMAN	FLYWCH1	HGNC	I3L231_HUMAN,I3L0R3_HUMAN	.	UPI00001408BF	SNV	FLYWCH1,missense_variant,p.Gln148Arg,ENST00000416288,;FLYWCH1,missense_variant,p.Gln149Arg,ENST00000399667,;FLYWCH1,missense_variant,p.Gln149Arg,ENST00000253928,;FLYWCH1,upstream_gene_variant,,ENST00000344592,;FLYWCH1,upstream_gene_variant,,ENST00000573564,;FLYWCH1,upstream_gene_variant,,ENST00000571580,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,downstream_gene_variant,,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000575604,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;	786	46	64	SUCCESS
CCDC64B	0	.	GRCh37	16	3085406	3085406	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	38	56	0	ENST00000389347.4:c.92T>A	p.Leu31Gln	p.L31Q	ENST00000389347	NM_001103175.1	31	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS45393.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAGCACA	NONE	.	.	hmmpanther:PTHR32123,hmmpanther:PTHR32123:SF11	.	.	ENSP00000459043	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000572449	Transcript	.	.	ENSG00000162069	33584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0.02)	.	BICR2_HUMAN	CCDC64B	HGNC	.	.	UPI00001D78D6	SNV	CCDC64B,missense_variant,p.Leu31Gln,ENST00000572449,;CCDC64B,missense_variant,p.Leu31Gln,ENST00000389347,;CCDC64B,upstream_gene_variant,,ENST00000573514,;RP11-473M20.5,non_coding_transcript_exon_variant,,ENST00000382225,;CCDC64B,non_coding_transcript_exon_variant,,ENST00000576826,;CCDC64B,upstream_gene_variant,,ENST00000572240,;	155	56	63	SUCCESS
CHD9	80205	.	GRCh37	16	53341643	53341643	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	29	152	0	ENST00000398510.3:c.6831A>C	p.Lys2277Asn	p.K2277N	ENST00000398510		2277	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS45485.1	6831	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAAGGAAA	NONE	.	.	.	.	.	ENSP00000457466	.	33/39	.	.	.	.	.	.	.	.	.	33/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Lys2277Asn,ENST00000566029,;CHD9,missense_variant,p.Lys2278Asn,ENST00000447540,;CHD9,missense_variant,p.Lys2277Asn,ENST00000564845,;CHD9,missense_variant,p.Lys2277Asn,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	7040	152	170	SUCCESS
FTO	79068	.	GRCh37	16	53738074	53738074	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	119	0	ENST00000471389.1:c.-23G>T		p.*8*	ENST00000471389	NM_001080432.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32448.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGCGAAG	NONE	.	.	.	.	.	ENSP00000418823	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000471389	Transcript	.	.	ENSG00000140718	24678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FTO_HUMAN	FTO	HGNC	B4DHN4_HUMAN	.	UPI000013D7B3	SNV	FTO,5_prime_UTR_variant,,ENST00000471389,;RPGRIP1L,upstream_gene_variant,,ENST00000562230,;RPGRIP1L,upstream_gene_variant,,ENST00000563746,;RPGRIP1L,upstream_gene_variant,,ENST00000569716,;RPGRIP1L,upstream_gene_variant,,ENST00000379925,;FTO,upstream_gene_variant,,ENST00000394647,;RPGRIP1L,upstream_gene_variant,,ENST00000562588,;RPGRIP1L,upstream_gene_variant,,ENST00000568653,;RPGRIP1L,upstream_gene_variant,,ENST00000262135,;RPGRIP1L,upstream_gene_variant,,ENST00000564374,;RPGRIP1L,upstream_gene_variant,,ENST00000566096,;FTO,non_coding_transcript_exon_variant,,ENST00000570395,;FTO,upstream_gene_variant,,ENST00000464071,;	200	119	107	SUCCESS
GPR114	0	.	GRCh37	16	57608882	57608882	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773500113	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	33	0	ENST00000340339.4:c.1364A>G	p.Asp455Gly	p.D455G	ENST00000340339	NM_153837.1	455	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS10785.1	1364	RADIA|MUTECT|MUSE	.	CCATGACACTG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF230,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000342981	.	11/12	.	.	.	.	.	.	.	.	rs773500113	11/12	PASS	ENST00000340339	Transcript	.	.	ENSG00000159618	19010	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	GP114_HUMAN	GPR114	HGNC	.	.	UPI0000039944	SNV	GPR114,missense_variant,p.Asp455Gly,ENST00000340339,;GPR114,missense_variant,p.Asp455Gly,ENST00000349457,;GPR114,non_coding_transcript_exon_variant,,ENST00000569839,;GPR114,non_coding_transcript_exon_variant,,ENST00000394361,;GPR114,non_coding_transcript_exon_variant,,ENST00000564607,;	1887	33	34	SUCCESS
CCDC135	0	.	GRCh37	16	57731872	57731872	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	47	0	ENST00000360716.3:c.11T>A	p.Leu4Gln	p.L4Q	ENST00000360716		4	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS10787.1	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTGAGGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000353942	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000360716	Transcript	.	.	ENSG00000159625	25289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	CC135_HUMAN	CCDC135	HGNC	H3BRX1_HUMAN,H3BQY5_HUMAN	.	UPI00001AEB68	SNV	CCDC135,missense_variant,p.Leu4Gln,ENST00000336825,;CCDC135,missense_variant,p.Leu4Gln,ENST00000394337,;CCDC135,missense_variant,p.Leu4Gln,ENST00000569375,;CCDC135,missense_variant,p.Leu4Gln,ENST00000360716,;CCDC135,missense_variant,p.Leu4Gln,ENST00000563126,;CCDC135,intron_variant,,ENST00000569167,;RP11-405F3.4,non_coding_transcript_exon_variant,,ENST00000563062,;CCDC135,missense_variant,p.Leu4Gln,ENST00000564297,;	232	47	34	SUCCESS
CTCF	10664	.	GRCh37	16	67662374	67662374	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	103	153	0	ENST00000264010.4:c.1620G>A	p.Met540Ile	p.M540I	ENST00000264010	NM_006565.3	540	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS10841.1	1620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATGCACTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264010	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000264010	Transcript	.	.	ENSG00000102974	13723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.27)	.	CTCF_HUMAN	CTCF	HGNC	.	.	UPI0000000DDE	SNV	CTCF,missense_variant,p.Met212Ile,ENST00000401394,;CTCF,missense_variant,p.Met540Ile,ENST00000264010,;	2064	153	163	SUCCESS
SLC12A4	6560	.	GRCh37	16	67985728	67985728	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs760594678	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	40	53	0	ENST00000316341.3:c.1130A>T	p.Gln377Leu	p.Q377L	ENST00000316341	NM_001145961.1	377	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS54032.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCTGGAGC	NONE	.	.	TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46	.	.	ENSP00000395983	.	7/23	.	.	.	.	.	.	.	.	rs760594678	7/23	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.89)	.	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,missense_variant,p.Gln371Leu,ENST00000537830,;SLC12A4,missense_variant,p.Gln346Leu,ENST00000541864,;SLC12A4,missense_variant,p.Gln377Leu,ENST00000576616,;SLC12A4,missense_variant,p.Gln329Leu,ENST00000572037,;SLC12A4,missense_variant,p.Gln377Leu,ENST00000316341,;SLC12A4,missense_variant,p.Gln377Leu,ENST00000338335,;SLC12A4,missense_variant,p.Gln379Leu,ENST00000422611,;SLC12A4,downstream_gene_variant,,ENST00000571299,;SLC12A4,downstream_gene_variant,,ENST00000572010,;SLC12A4,splice_region_variant,,ENST00000573023,;SLC12A4,splice_region_variant,,ENST00000573702,;SLC12A4,splice_region_variant,,ENST00000576377,;SLC12A4,splice_region_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000574665,;SLC12A4,upstream_gene_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,upstream_gene_variant,,ENST00000572766,;SLC12A4,upstream_gene_variant,,ENST00000576513,;	1176	53	67	SUCCESS
HYDIN	54768	.	GRCh37	16	70852337	70852337	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	56	0	ENST00000393567.2:c.14566A>T	p.Asn4856Tyr	p.N4856Y	ENST00000393567	NM_001270974.1	4856	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS59269.1	14566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTTCTCCA	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	84/86	.	.	.	.	.	.	.	.	.	84/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Asn4856Tyr,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000542283,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	14717	56	60	SUCCESS
RBFOX1	54715	.	GRCh37	16	7629893	7629893	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	96	154	0	ENST00000547338.1:c.385C>T	p.Arg129Trp	p.R129W	ENST00000547338	NM_001142334.1	129	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10531.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCGGGAT	BUFFER|p.P151L|c.452C>T|3,BUFFER|p.P131L|c.392C>T|3,BUFFER|p.P151L|c.452C>T|3	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8,Pfam_domain:PF00076,Gene3D:3.30.70.330,PIRSF_domain:PIRSF037932,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000309117	.	3/13	.	.	.	.	.	.	.	.	COSM1293097,COSM1293095,COSM1293096	3/13	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1,1	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,missense_variant,p.Arg129Trp,ENST00000553186,;RBFOX1,missense_variant,p.Arg164Trp,ENST00000552089,;RBFOX1,missense_variant,p.Arg131Trp,ENST00000570626,;RBFOX1,missense_variant,p.Arg149Trp,ENST00000355637,;RBFOX1,missense_variant,p.Arg129Trp,ENST00000551752,;RBFOX1,missense_variant,p.Arg134Trp,ENST00000340209,;RBFOX1,missense_variant,p.Arg128Trp,ENST00000547605,;RBFOX1,missense_variant,p.Arg129Trp,ENST00000547338,;RBFOX1,missense_variant,p.Arg149Trp,ENST00000311745,;RBFOX1,missense_variant,p.Arg149Trp,ENST00000436368,;RBFOX1,missense_variant,p.Arg172Trp,ENST00000422070,;RBFOX1,missense_variant,p.Arg129Trp,ENST00000550418,;RBFOX1,missense_variant,p.Arg172Trp,ENST00000547372,;RBFOX1,intron_variant,,ENST00000535565,;RBFOX1,downstream_gene_variant,,ENST00000569889,;	697	154	199	SUCCESS
ZNF469	84627	.	GRCh37	16	88499480	88499480	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	21	111	0	ENST00000437464.1:c.5518C>T	p.Pro1840Ser	p.P1840S	ENST00000437464	NM_001127464.1	1840	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45544.1	5518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCCCGG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.514)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Pro1868Ser,ENST00000565624,;ZNF469,missense_variant,p.Pro1840Ser,ENST00000437464,;	5518	111	102	SUCCESS
CDH15	1013	.	GRCh37	16	89256721	89256721	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770833057	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	152	0	ENST00000289746.2:c.1049C>A	p.Ala350Glu	p.A350E	ENST00000289746	NM_004933.2	350	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS10976.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCGGCTG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000289746	.	8/14	.	.	.	.	.	.	.	.	rs770833057	8/14	PASS	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	tolerated(0.37)	.	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	SNV	CDH15,missense_variant,p.Ala350Glu,ENST00000289746,;CDH15,downstream_gene_variant,,ENST00000524089,;	1114	152	104	SUCCESS
SHMT1	6470	.	GRCh37	17	18250860	18250860	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs754265229	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	41	80	0	ENST00000316694.3:c.469A>T	p.Lys157Ter	p.K157*	ENST00000316694	NM_004169.3	157	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS11196.1	469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTGTCTG	NONE	.	.	HAMAP:MF_00051,hmmpanther:PTHR11680,hmmpanther:PTHR11680:SF3,Pfam_domain:PF00464,Gene3D:3.40.640.10,PIRSF_domain:PIRSF000412,Superfamily_domains:SSF53383	.	.	ENSP00000318868	.	5/12	.	.	.	.	.	.	.	.	rs754265229	5/12	PASS	ENST00000316694	Transcript	.	.	ENSG00000176974	10850	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLYC_HUMAN	SHMT1	HGNC	Q9UMC9_HUMAN,J3KRZ5_HUMAN,B4DPM9_HUMAN	.	UPI0000001C71	SNV	SHMT1,stop_gained,p.Lys157Ter,ENST00000316694,;SHMT1,stop_gained,p.Lys157Ter,ENST00000582653,;SHMT1,stop_gained,p.Lys157Ter,ENST00000354098,;SHMT1,stop_gained,p.Lys19Ter,ENST00000539052,;SHMT1,stop_gained,p.Lys157Ter,ENST00000352886,;SHMT1,missense_variant,p.Gln118Leu,ENST00000580002,;SHMT1,non_coding_transcript_exon_variant,,ENST00000579558,;	604	80	126	SUCCESS
PPY2	0	.	GRCh37	17	26574940	26574940	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	21	0	ENST00000582808.1:n.327T>A		p.*109*	ENST00000582808				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTTCTCA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000579045	Transcript	.	.	ENSG00000266830	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2008P7.8	Clone_based_vega_gene	.	.	.	SNV	CTD-2008P7.8,non_coding_transcript_exon_variant,,ENST00000579045,;PPY2,non_coding_transcript_exon_variant,,ENST00000583761,;PPY2,non_coding_transcript_exon_variant,,ENST00000582808,;	93	21	21	SUCCESS
KRT40	125115	.	GRCh37	17	39140202	39140202	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	42	88	0	ENST00000377755.4:c.324C>A	p.Arg108=	p.R108=	ENST00000377755		108	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS42320.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGCGCAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF90,hmmpanther:PTHR23239	.	.	ENSP00000366984	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000377755	Transcript	.	.	ENSG00000204889	26707	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C40_HUMAN	KRT40	HGNC	.	.	UPI00003B288A	SNV	KRT40,synonymous_variant,p.%3D,ENST00000377755,;KRT40,synonymous_variant,p.%3D,ENST00000398486,;KRT40,synonymous_variant,p.%3D,ENST00000461923,;	359	88	111	SUCCESS
KRT37	8688	.	GRCh37	17	39579146	39579146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	44	0	ENST00000225550.3:c.616G>A	p.Asp206Asn	p.D206N	ENST00000225550	NM_003770.4	206	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32653.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTCCGCCT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000225550	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000225550	Transcript	.	.	ENSG00000108417	6455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	KRT37_HUMAN	KRT37	HGNC	.	.	UPI000000DC9A	SNV	KRT37,missense_variant,p.Asp206Asn,ENST00000225550,;AC003958.2,intron_variant,,ENST00000432258,;	616	44	42	SUCCESS
KRT35	3886	.	GRCh37	17	39637038	39637038	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	52	88	0	ENST00000393989.1:c.312G>C	p.Leu104=	p.L104=	ENST00000393989	NM_002280.4	104	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11394.2	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTCAGGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF109,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000377558	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000393989	Transcript	.	.	ENSG00000197079	6453	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT35_HUMAN	KRT35	HGNC	C4AM86_HUMAN	.	UPI0000D74C4B	SNV	KRT35,synonymous_variant,p.%3D,ENST00000246639,;KRT35,synonymous_variant,p.%3D,ENST00000393989,;	355	88	96	SUCCESS
AOC2	314	.	GRCh37	17	41001329	41001329	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	22	90	0	ENST00000253799.3:c.1815C>G	p.Ser605Arg	p.S605R	ENST00000253799	NM_009590.2	605	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS11443.1	1815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCCCCT	NONE	.	.	Superfamily_domains:SSF49998,Gene3D:2.70.98.20,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4	.	.	ENSP00000253799	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000253799	Transcript	.	.	ENSG00000131480	549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	AOC2_HUMAN	AOC2	HGNC	.	.	UPI000013CDF4	SNV	AOC2,missense_variant,p.Ser605Arg,ENST00000253799,;AOC2,intron_variant,,ENST00000452774,;AOC3,upstream_gene_variant,,ENST00000591562,;AOC3,upstream_gene_variant,,ENST00000308423,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000587330,;	1842	90	110	SUCCESS
OSBPL7	114881	.	GRCh37	17	45897358	45897358	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	21	27	0	ENST00000007414.3:c.180G>T	p.Trp60Cys	p.W60C	ENST00000007414	NM_145798.2	60	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS11515.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCCACTT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF15409,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972,PROSITE_profiles:PS50003	.	.	ENSP00000007414	.	3/23	.	.	.	.	.	.	.	.	COSM980529	3/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Trp60Cys,ENST00000392507,;OSBPL7,missense_variant,p.Trp60Cys,ENST00000007414,;MRPL10,downstream_gene_variant,,ENST00000290208,;MRPL10,downstream_gene_variant,,ENST00000414011,;MRPL10,downstream_gene_variant,,ENST00000351111,;OSBPL7,missense_variant,p.Trp60Cys,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000580226,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000580140,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000585051,;OSBPL7,upstream_gene_variant,,ENST00000583167,;MRPL10,downstream_gene_variant,,ENST00000421763,;OSBPL7,upstream_gene_variant,,ENST00000580808,;OSBPL7,upstream_gene_variant,,ENST00000584698,;	372	27	34	SUCCESS
DLX4	1748	.	GRCh37	17	48050405	48050405	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	106	260	0	ENST00000240306.3:c.284-32C>A		p.*95*	ENST00000240306	NM_138281.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11555.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCGCCCC	NONE	.	.	.	.	.	ENSP00000240306	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000240306	Transcript	.	.	ENSG00000108813	2917	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLX4_HUMAN	DLX4	HGNC	.	.	UPI0000070F94	SNV	DLX4,synonymous_variant,p.%3D,ENST00000411890,;DLX4,intron_variant,,ENST00000240306,;DLX4,downstream_gene_variant,,ENST00000505318,;DLX4,intron_variant,,ENST00000503410,;DLX4,intron_variant,,ENST00000503276,;	.	260	270	SUCCESS
PPM1E	22843	.	GRCh37	17	57057829	57057829	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	123	0	ENST00000308249.2:c.1705T>A	p.Tyr569Asn	p.Y569N	ENST00000308249	NM_014906.4	569	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS11613.1	1705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTACCTA	NONE	.	.	.	.	.	ENSP00000312411	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000308249	Transcript	.	.	ENSG00000175175	19322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0)	.	PPM1E_HUMAN	PPM1E	HGNC	A7E2X1_HUMAN	.	UPI000013ECF6	SNV	PPM1E,missense_variant,p.Tyr569Asn,ENST00000308249,;TRIM37,downstream_gene_variant,,ENST00000583945,;TRIM37,downstream_gene_variant,,ENST00000393066,;TRIM37,downstream_gene_variant,,ENST00000585287,;	1834	123	112	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62892240	62892240	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765556062	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	36	206	0	ENST00000319651.5:c.1136A>G	p.Gln379Arg	p.Q379R	ENST00000319651		379	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32708.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23045	.	.	ENSP00000464535	.	3/14	.	.	.	.	.	.	.	.	rs765556062	3/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.33)	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,missense_variant,p.Gln379Arg,ENST00000319651,;LRRC37A3,missense_variant,p.Gln379Arg,ENST00000584306,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000580464,;RP11-927P21.1,non_coding_transcript_exon_variant,,ENST00000577938,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	1667	206	213	SUCCESS
ABCA5	23461	.	GRCh37	17	67283767	67283767	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	77	0	ENST00000392676.3:c.2028T>A	p.Ala676=	p.A676=	ENST00000392676		676	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11685.1	2028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCAGCTTC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000376443	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000392676	Transcript	.	.	ENSG00000154265	35	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA5_HUMAN	ABCA5	HGNC	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN	.	UPI000013DD9E	SNV	ABCA5,synonymous_variant,p.%3D,ENST00000392676,;ABCA5,synonymous_variant,p.%3D,ENST00000588877,;ABCA5,synonymous_variant,p.%3D,ENST00000392677,;ABCA5,synonymous_variant,p.%3D,ENST00000593153,;ABCA5,synonymous_variant,p.%3D,ENST00000586995,;ABCA5,upstream_gene_variant,,ENST00000591234,;	2093	77	97	SUCCESS
ACAP1	9744	.	GRCh37	17	7251303	7251303	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1477902401	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	36	0	ENST00000158762.3:c.1406T>A	p.Leu469Gln	p.L469Q	ENST00000158762	NM_014716.3	469	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11101.1	1406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTAGTGA	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF197,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405	.	.	ENSP00000158762	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000158762	Transcript	.	.	ENSG00000072818	16467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.14)	.	ACAP1_HUMAN	ACAP1	HGNC	I3L2Z4_HUMAN,I3L268_HUMAN,I3L0K9_HUMAN	.	UPI000012749A	SNV	ACAP1,missense_variant,p.Leu469Gln,ENST00000158762,;ACAP1,upstream_gene_variant,,ENST00000574499,;KCTD11,upstream_gene_variant,,ENST00000333751,;ACAP1,upstream_gene_variant,,ENST00000571471,;ACAP1,downstream_gene_variant,,ENST00000575425,;ACAP1,downstream_gene_variant,,ENST00000570457,;ACAP1,upstream_gene_variant,,ENST00000575415,;ACAP1,upstream_gene_variant,,ENST00000570504,;RP11-542C16.1,downstream_gene_variant,,ENST00000572417,;ACAP1,downstream_gene_variant,,ENST00000573893,;KCTD11,upstream_gene_variant,,ENST00000576980,;ACAP1,non_coding_transcript_exon_variant,,ENST00000576594,;ACAP1,non_coding_transcript_exon_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000571220,;	1612	36	23	SUCCESS
TP53	7157	.	GRCh37	17	7577531	7577538	+	frameshift_variant	Frame_Shift_Del	DEL	GGGCCTCC	GGGCCTCC	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	GGGCCTCC	GGGCCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	3	21	73	0	ENST00000269305.4:c.743_750del	p.Arg248HisfsTer13	p.R248Hfs*13	ENST00000269305	NM_001126112.2	248	cGGAGGCCC/c	0	.	.	.	.	.	-	RRP/X	protein_coding	YES	CCDS11118.1	743-750	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGATGGGCCTCCGGTTC	CODON|p.0?|c.1_1182del1182|6,CODON|p.L252_I254delLTI|c.751_759delATCCTCACC|4,CODON|p.I251fs*94|c.751delA|6,CODON|p.I251L|c.751A>C|3,CODON|p.I251F|c.751A>T|8,CODON|p.P250P|c.750C>T|4,CODON|p.P250F|c.748_749CC>TT|3,CODON|p.I251fs*94|c.748delC|4,CODON|p.P250L|c.749C>T|49,CODON|p.P250L|c.749C>T|11,CODON|p.P250L|c.749C>T|8,CODON|p.P250L|c.749C>T|6,CODON|p.P250L|c.749C>T|11,CODON|p.P250S|c.748C>T|12,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>T|31,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249S|c.747G>T|15,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249S|c.747G>T|314,CODON|p.R249S|c.747G>T|30,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,CODON|p.R248Q|c.743_744GG>AA|5,CODON|p.R249W|c.745A>T|36,CODON|p.R249W|c.745A>T|7,CODON|p.R249G|c.745A>G|7,CODON|p.R249G|c.745A>G|7,CODON|p.R249W|c.745A>T|4,CODON|p.R249G|c.745A>G|4,CODON|p.R249W|c.745A>T|8,CODON|p.R249G|c.745A>G|30,CODON|p.R248R|c.744G>A|5,BUFFER|p.I255delI|c.760_762delATC|3,BUFFER|p.I255fs*90|c.762delC|3,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254S|c.761T>G|9,BUFFER|p.I254N|c.761T>A|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254T|c.761T>C|3,BUFFER|p.I254F|c.760A>T|7,BUFFER|p.I254V|c.760A>G|6,BUFFER|p.I254fs*10|c.759_760insN|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4,BUFFER|p.G245G|c.735C>T|5,BUFFER|p.G245D|c.734G>A|10,BUFFER|p.G245V|c.734G>T|3,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245A|c.734G>C|8,BUFFER|p.G152D|c.455G>A|23,BUFFER|p.G152V|c.455G>T|15,BUFFER|p.G245V|c.734G>T|10,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245D|c.734G>A|119,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245D|c.734G>A|7,BUFFER|p.G245V|c.734G>T|69,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Arg248HisfsTer86,ENST00000413465,;TP53,frameshift_variant,p.Arg248HisfsTer13,ENST00000420246,;TP53,frameshift_variant,p.Arg248HisfsTer13,ENST00000269305,;TP53,frameshift_variant,p.Arg116HisfsTer13,ENST00000509690,;TP53,frameshift_variant,p.Arg248HisfsTer13,ENST00000359597,;TP53,frameshift_variant,p.Arg248HisfsTer13,ENST00000445888,;TP53,frameshift_variant,p.Arg248HisfsTer13,ENST00000455263,;TP53,coding_sequence_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	933-940	73	24	SUCCESS
AZI1	0	.	GRCh37	17	79193699	79193699	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	84	0	ENST00000269392.4:c.158A>T	p.Glu53Val	p.E53V	ENST00000269392	NM_014984.2	53	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS45808.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTCGCTG	NONE	.	.	hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1	.	.	ENSP00000393583	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000450824	Transcript	.	.	ENSG00000141577	29511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	.	deleterious(0.01)	.	AZI1_HUMAN	AZI1	HGNC	.	.	UPI00002017B6	SNV	AZI1,missense_variant,p.Glu53Val,ENST00000269392,;AZI1,missense_variant,p.Glu53Val,ENST00000450824,;AZI1,missense_variant,p.Glu53Val,ENST00000374782,;AZI1,missense_variant,p.Glu53Val,ENST00000575907,;	337	84	83	SUCCESS
IMPA2	3613	.	GRCh37	18	12028869	12028869	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	57	0	ENST00000269159.3:c.628G>T	p.Ala210Ser	p.A210S	ENST00000269159	NM_014214.2	210	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11855.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGGCACTC	NONE	.	.	hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF29,Pfam_domain:PF00459,Gene3D:3.40.190.80,Superfamily_domains:SSF56655,Prints_domain:PR00377	.	.	ENSP00000269159	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000269159	Transcript	.	.	ENSG00000141401	6051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.455)	.	tolerated(0.07)	.	IMPA2_HUMAN	IMPA2	HGNC	K7EII9_HUMAN	.	UPI000012FB90	SNV	IMPA2,missense_variant,p.Ala21Ser,ENST00000588927,;IMPA2,missense_variant,p.Ala210Ser,ENST00000269159,;IMPA2,missense_variant,p.Ala21Ser,ENST00000589238,;RP11-703I16.1,downstream_gene_variant,,ENST00000587619,;IMPA2,downstream_gene_variant,,ENST00000588752,;IMPA2,3_prime_UTR_variant,,ENST00000590107,;IMPA2,3_prime_UTR_variant,,ENST00000586230,;IMPA2,3_prime_UTR_variant,,ENST00000590138,;IMPA2,non_coding_transcript_exon_variant,,ENST00000589374,;IMPA2,downstream_gene_variant,,ENST00000588167,;	870	57	51	SUCCESS
SMCHD1	23347	.	GRCh37	18	2732311	2732311	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	75	177	0	ENST00000320876.6:c.3097A>T	p.Ser1033Cys	p.S1033C	ENST00000320876	NM_015295.2	1033	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45822.1	3097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAGTAGC	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	25/48	.	.	.	.	.	.	.	.	.	25/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,missense_variant,p.Ser1033Cys,ENST00000320876,;SMCHD1,missense_variant,p.Ser1033Cys,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,downstream_gene_variant,,ENST00000609587,;SMCHD1,missense_variant,p.Ser504Cys,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000581631,;	3435	177	165	SUCCESS
B4GALT6	9331	.	GRCh37	18	29264373	29264373	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	64	0	ENST00000306851.5:c.17G>A	p.Arg6Gln	p.R6Q	ENST00000306851	NM_004775.3	6	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11900.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCGCCTG	NONE	.	.	PROSITE_profiles:PS51257,hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF29	.	.	ENSP00000306459	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000306851	Transcript	.	.	ENSG00000118276	929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	tolerated_low_confidence(0.15)	.	B4GT6_HUMAN	B4GALT6	HGNC	Q6NT00_HUMAN,J3QQY9_HUMAN	.	UPI0000126721	SNV	B4GALT6,missense_variant,p.Arg6Gln,ENST00000383131,;B4GALT6,missense_variant,p.Arg6Gln,ENST00000237019,;B4GALT6,missense_variant,p.Arg6Gln,ENST00000306851,;B4GALT6,intron_variant,,ENST00000579372,;RP11-549B18.1,upstream_gene_variant,,ENST00000565978,;	314	64	54	SUCCESS
SETBP1	26040	.	GRCh37	18	42529858	42529858	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	42	0	ENST00000282030.5:c.556del	p.Gln186ArgfsTer21	p.Q186Rfs*21	ENST00000282030	NM_015559.2	185	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS11923.2	553	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAGGCCCCAG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	.	.	ENSP00000282030	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000282030	Transcript	.	.	ENSG00000152217	15573	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETBP_HUMAN	SETBP1	HGNC	K7ES17_HUMAN	.	UPI0000201C54	deletion	SETBP1,frameshift_variant,p.Gln186ArgfsTer21,ENST00000282030,;	849	42	68	SUCCESS
PIAS2	9063	.	GRCh37	18	44408008	44408008	+	synonymous_variant	Silent	SNP	T	T	G	rs373537803	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	89	0	ENST00000585916.1:c.1422A>C	p.Ile474=	p.I474=	ENST00000585916	NM_004671.3	474	atA/atC	0	C:0	.	.	.	.	G	I	protein_coding	YES	CCDS32824.1	1422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTATTGT	NONE	byCluster	.	hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF12	.	C:0.0001	ENSP00000465676	.	11/14	.	.	.	.	.	.	.	.	rs373537803	11/14	PASS	ENST00000585916	Transcript	.	.	ENSG00000078043	17311	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIAS2_HUMAN	PIAS2	HGNC	K7EJT4_HUMAN	.	UPI0000201CB9	SNV	PIAS2,synonymous_variant,p.%3D,ENST00000324794,;PIAS2,synonymous_variant,p.%3D,ENST00000545673,;PIAS2,synonymous_variant,p.%3D,ENST00000585916,;PIAS2,3_prime_UTR_variant,,ENST00000398654,;PIAS2,non_coding_transcript_exon_variant,,ENST00000592212,;PIAS2,non_coding_transcript_exon_variant,,ENST00000590127,;	1422	89	67	SUCCESS
CDH20	28316	.	GRCh37	18	59158023	59158023	+	synonymous_variant	Silent	SNP	T	T	C	rs777015854	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	44	122	0	ENST00000262717.4:c.237T>C	p.Tyr79=	p.Y79=	ENST00000262717		79	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS11977.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTATGTCGG	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027	.	.	ENSP00000262717	.	2/12	.	.	.	.	.	.	.	.	rs777015854	2/12	PASS	ENST00000262717	Transcript	.	.	ENSG00000101542	1760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD20_HUMAN	CDH20	HGNC	Q8N9J3_HUMAN,K7ESP2_HUMAN	.	UPI000013D30D	SNV	CDH20,synonymous_variant,p.%3D,ENST00000538374,;CDH20,synonymous_variant,p.%3D,ENST00000536675,;CDH20,synonymous_variant,p.%3D,ENST00000262717,;	635	122	103	SUCCESS
SERPINB3	6317	.	GRCh37	18	61325773	61325773	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	20	103	0	ENST00000283752.5:c.443A>G	p.Asn148Ser	p.N148S	ENST00000283752	NM_006919.2	148	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS11987.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTTAATC	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000283752	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000283752	Transcript	.	.	ENSG00000057149	10569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,missense_variant,p.Asn148Ser,ENST00000332821,;SERPINB3,missense_variant,p.Asn148Ser,ENST00000283752,;SERPINB11,intron_variant,,ENST00000489748,;	587	103	105	SUCCESS
PTPRM	5797	.	GRCh37	18	7949192	7949192	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs917007136	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	65	0	ENST00000332175.8:c.677G>A	p.Arg226Gln	p.R226Q	ENST00000332175	NM_002845.3	226	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS58613.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCGAGATG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50835	.	.	ENSP00000463325	.	6/33	.	.	.	.	.	.	.	.	COSM1263497	6/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.013)	.	tolerated(0.38)	1	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.Arg13Gln,ENST00000578916,;PTPRM,missense_variant,p.Arg226Gln,ENST00000332175,;PTPRM,missense_variant,p.Arg13Gln,ENST00000444013,;PTPRM,missense_variant,p.Arg164Gln,ENST00000400053,;PTPRM,missense_variant,p.Arg226Gln,ENST00000400060,;PTPRM,missense_variant,p.Arg226Gln,ENST00000580170,;	1714	65	50	SUCCESS
GRIN3B	116444	.	GRCh37	19	1005395	1005395	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs750355849	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	66	123	0	ENST00000234389.3:c.1895T>A	p.Val632Glu	p.V632E	ENST00000234389	NM_138690.1	632	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS32861.1	1895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGTGTCCA	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Pfam_domain:PF00060,Gene3D:1.10.287.70,Pfam_domain:PF00497,SMART_domains:SM00079	.	.	ENSP00000234389	.	3/9	.	.	.	.	.	.	.	.	rs750355849	3/9	PASS	ENST00000234389	Transcript	.	.	ENSG00000116032	16768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	NMD3B_HUMAN	GRIN3B	HGNC	.	.	UPI000004064B	SNV	GRIN3B,missense_variant,p.Val632Glu,ENST00000234389,;TMEM259,downstream_gene_variant,,ENST00000593068,;TMEM259,downstream_gene_variant,,ENST00000333175,;TMEM259,downstream_gene_variant,,ENST00000356663,;AC004528.4,upstream_gene_variant,,ENST00000588380,;GRIN3B,downstream_gene_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000592618,;	1914	123	90	SUCCESS
TMEM259	91304	.	GRCh37	19	1014293	1014293	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	126	0	ENST00000356663.3:c.405G>C	p.Gly135=	p.G135=	ENST00000356663	NM_001033026.1	135	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32862.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCCCGCG	NONE	.	.	hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF4,Pfam_domain:PF09746	.	.	ENSP00000349087	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000356663	Transcript	.	.	ENSG00000182087	17039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBRL_HUMAN	TMEM259	HGNC	.	.	UPI0000202E8E	SNV	TMEM259,synonymous_variant,p.%3D,ENST00000592590,;TMEM259,synonymous_variant,p.%3D,ENST00000333175,;TMEM259,synonymous_variant,p.%3D,ENST00000589055,;TMEM259,synonymous_variant,p.%3D,ENST00000356663,;TMEM259,synonymous_variant,p.%3D,ENST00000586250,;TMEM259,upstream_gene_variant,,ENST00000593068,;TMEM259,upstream_gene_variant,,ENST00000586285,;TMEM259,upstream_gene_variant,,ENST00000607316,;GRIN3B,downstream_gene_variant,,ENST00000234389,;TMEM259,non_coding_transcript_exon_variant,,ENST00000586704,;TMEM259,upstream_gene_variant,,ENST00000592052,;TMEM259,upstream_gene_variant,,ENST00000587266,;TMEM259,upstream_gene_variant,,ENST00000591128,;TMEM259,upstream_gene_variant,,ENST00000592618,;TMEM259,upstream_gene_variant,,ENST00000589831,;TMEM259,upstream_gene_variant,,ENST00000587644,;	527	126	93	SUCCESS
S1PR5	53637	.	GRCh37	19	10624601	10624601	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	13	44	0	ENST00000333430.4:c.1087T>A	p.Ser363Thr	p.S363T	ENST00000333430	NM_030760.4	363	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS12240.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGAGCCGC	NONE	.	.	hmmpanther:PTHR22750:SF20,hmmpanther:PTHR22750,Prints_domain:PR01561	.	.	ENSP00000416915	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439028	Transcript	.	.	ENSG00000180739	14299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	tolerated(0.25)	.	S1PR5_HUMAN	S1PR5	HGNC	.	.	UPI000003BC79	SNV	S1PR5,missense_variant,p.Ser363Thr,ENST00000333430,;S1PR5,missense_variant,p.Ser363Thr,ENST00000439028,;S1PR5,downstream_gene_variant,,ENST00000590601,;	1213	44	16	SUCCESS
SAMD1	90378	.	GRCh37	19	14201107	14201107	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	7	15	0	ENST00000533683.2:c.126G>A	p.Leu42=	p.L42=	ENST00000533683	NM_138352.1	42	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	.	126	MUTECT|MUSE	.	GAGCGCAGCGA	NONE	.	.	.	.	.	ENSP00000431971	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000533683	Transcript	.	.	ENSG00000141858	17958	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SAMD1	HGNC	F8WDT5_HUMAN,E9PIW9_HUMAN	.	UPI0000366D4A	SNV	SAMD1,synonymous_variant,p.%3D,ENST00000533683,;SAMD1,intron_variant,,ENST00000269724,;C19orf67,upstream_gene_variant,,ENST00000548523,;PRKACA,downstream_gene_variant,,ENST00000590853,;C19orf67,upstream_gene_variant,,ENST00000343945,;PRKACA,downstream_gene_variant,,ENST00000589994,;PRKACA,downstream_gene_variant,,ENST00000308677,;PRKACA,downstream_gene_variant,,ENST00000587372,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;PRKACA,downstream_gene_variant,,ENST00000588209,;	414	15	143	SUCCESS
OR7C2	26658	.	GRCh37	19	15052383	15052383	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1052	28	107	0	ENST00000248072.3:c.83A>T	p.His28Leu	p.H28L	ENST00000248072	NM_012377.1	28	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS12320.1	83	MUTECT|MUSE	.	CCTCCATGGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF307,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000248072	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248072	Transcript	.	.	ENSG00000127529	8374	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	deleterious_low_confidence(0.03)	.	OR7C2_HUMAN	OR7C2	HGNC	.	.	UPI0000041E80	SNV	OR7C2,missense_variant,p.His28Leu,ENST00000248072,;	83	107	1080	SUCCESS
FCHO1	23149	.	GRCh37	19	17886926	17886926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	30	42	0	ENST00000252771.7:c.1138C>A	p.Leu380Ile	p.L380I	ENST00000252771		380	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS59365.1	1138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCTCAGG	NONE	.	.	hmmpanther:PTHR23065:SF6,hmmpanther:PTHR23065	.	.	ENSP00000473001	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000594202	Transcript	.	.	ENSG00000130475	29002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.05)	.	FCHO1_HUMAN	FCHO1	HGNC	M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN	.	UPI000059D6B0	SNV	FCHO1,missense_variant,p.Leu380Ile,ENST00000596536,;FCHO1,missense_variant,p.Leu380Ile,ENST00000600676,;FCHO1,missense_variant,p.Leu380Ile,ENST00000389133,;FCHO1,missense_variant,p.Leu380Ile,ENST00000594202,;FCHO1,missense_variant,p.Leu380Ile,ENST00000539407,;FCHO1,missense_variant,p.Leu387Ile,ENST00000597512,;FCHO1,missense_variant,p.Leu380Ile,ENST00000252771,;FCHO1,missense_variant,p.Leu330Ile,ENST00000595033,;FCHO1,missense_variant,p.Leu380Ile,ENST00000596951,;FCHO1,downstream_gene_variant,,ENST00000596507,;FCHO1,downstream_gene_variant,,ENST00000595023,;FCHO1,downstream_gene_variant,,ENST00000595549,;FCHO1,upstream_gene_variant,,ENST00000595594,;FCHO1,downstream_gene_variant,,ENST00000600393,;FCHO1,upstream_gene_variant,,ENST00000600058,;FCHO1,upstream_gene_variant,,ENST00000599766,;FCHO1,upstream_gene_variant,,ENST00000602111,;FCHO1,downstream_gene_variant,,ENST00000597076,;FCHO1,downstream_gene_variant,,ENST00000596522,;	1417	42	32	SUCCESS
ATP8B3	148229	.	GRCh37	19	1796124	1796124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	36	88	0	ENST00000310127.6:c.1894C>A	p.Leu632Met	p.L632M	ENST00000310127	NM_138813.3	632	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS45901.1	1894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGGACCT	NONE	.	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Superfamily_domains:SSF81660	.	.	ENSP00000311336	.	17/29	.	.	.	.	.	.	.	.	.	17/29	PASS	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,missense_variant,p.Leu632Met,ENST00000310127,;ATP8B3,missense_variant,p.Leu632Met,ENST00000539485,;ATP8B3,missense_variant,p.Leu585Met,ENST00000525591,;ATP8B3,downstream_gene_variant,,ENST00000526092,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000533107,;	2133	88	73	SUCCESS
ZNF486	90649	.	GRCh37	19	20308783	20308783	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	111	0	ENST00000335117.8:c.1264A>G	p.Thr422Ala	p.T422A	ENST00000335117	NM_052852.3	422	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46029.1	1264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTAACTGAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95,PROSITE_profiles:PS50157	.	.	ENSP00000335042	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335117	Transcript	.	.	ENSG00000256229	20807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.07)	.	ZN486_HUMAN	ZNF486	HGNC	Q59FB0_HUMAN	.	UPI00002376E8	SNV	ZNF486,missense_variant,p.Thr422Ala,ENST00000335117,;CTC-260E6.6,intron_variant,,ENST00000586657,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000585498,;	1321	111	68	SUCCESS
KMT2B	9757	.	GRCh37	19	36214899	36214899	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs749554105	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	18	69	0	ENST00000222270.7:c.3325C>T	p.Arg1109Ter	p.R1109*	ENST00000222270	NM_014727.1	1109	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46055.1	3325	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCGAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	8/37	.	.	.	.	.	.	.	.	rs749554105	8/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,stop_gained,p.Arg1109Ter,ENST00000420124,;KMT2B,stop_gained,p.Arg1109Ter,ENST00000222270,;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;	3325	69	124	SUCCESS
ZNF781	163115	.	GRCh37	19	38161302	38161302	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	33	102	0	ENST00000358582.4:c.-253A>C		p.*85*	ENST00000358582	NM_152605.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12507.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTCTCAA	NONE	.	.	.	.	.	ENSP00000351391	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358582	Transcript	.	.	ENSG00000196381	26745	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN781_HUMAN	ZNF781	HGNC	.	.	UPI0000351D6C	SNV	ZNF781,5_prime_UTR_variant,,ENST00000590008,;ZNF781,5_prime_UTR_variant,,ENST00000358582,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000589676,;ZFP30,intron_variant,,ENST00000586732,;ZNF781,downstream_gene_variant,,ENST00000593040,;	497	102	205	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38572737	38572737	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377070862	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	31	0	ENST00000222345.6:c.532G>A	p.Glu178Lys	p.E178K	ENST00000222345	NM_015073.1	178	Gag/Aag	0	A:0.0002	.	.	.	.	A	E/K	protein_coding	YES	CCDS33007.1	532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGAGTGT	NONE	byCluster	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	.	A:0	ENSP00000222345	.	3/22	.	.	.	.	.	.	.	.	rs377070862	3/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,missense_variant,p.Glu178Lys,ENST00000222345,;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	1041	31	56	SUCCESS
ACTN4	81	.	GRCh37	19	39207845	39207845	+	synonymous_variant	Silent	SNP	G	G	A	rs753535029	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	13	91	0	ENST00000252699.2:c.1032G>A	p.Pro344=	p.P344=	ENST00000252699	NM_004924.4	344	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12518.1	1032	MUTECT|MUSE|VARSCANS	.	AAGCCGCCCAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000252699	.	10/21	.	.	.	.	.	.	.	.	rs753535029	10/21	PASS	ENST00000252699	Transcript	1	.	ENSG00000130402	166	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACTN4_HUMAN	ACTN4	HGNC	Q96BG6_HUMAN	.	UPI0000125093	SNV	ACTN4,synonymous_variant,p.%3D,ENST00000586538,;ACTN4,synonymous_variant,p.%3D,ENST00000252699,;ACTN4,synonymous_variant,p.%3D,ENST00000390009,;ACTN4,intron_variant,,ENST00000424234,;ACTN4,intron_variant,,ENST00000589528,;ACTN4,downstream_gene_variant,,ENST00000489451,;ACTN4,non_coding_transcript_exon_variant,,ENST00000588618,;	1108	91	151	SUCCESS
CEACAM7	1087	.	GRCh37	19	42187899	42187899	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs201378485	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	81	85	0	ENST00000006724.3:c.523A>T	p.Thr175Ser	p.T175S	ENST00000006724	NM_006890.3	175	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS12583.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGTGTTCT	NONE	by1000G	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF107,PROSITE_profiles:PS50835	.	.	ENSP00000006724	.	3/5	.	.	.	.	.	.	.	.	rs201378485	3/5	PASS	ENST00000006724	Transcript	.	.	ENSG00000007306	1819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.44)	.	deleterious(0.01)	.	CEAM7_HUMAN	CEACAM7	HGNC	.	.	UPI000012748E	SNV	CEACAM7,missense_variant,p.Thr175Ser,ENST00000401731,;CEACAM7,missense_variant,p.Thr175Ser,ENST00000006724,;CEACAM7,intron_variant,,ENST00000602225,;CEACAM7,intron_variant,,ENST00000338196,;CEACAM7,downstream_gene_variant,,ENST00000599715,;	725	85	123	SUCCESS
KCNN4	3783	.	GRCh37	19	44271859	44271859	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	45	65	0	ENST00000262888.3:c.1120A>G	p.Met374Val	p.M374V	ENST00000262888	NM_002250.2	374	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS12630.1	1120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATCTGGG	NONE	.	.	hmmpanther:PTHR10153:SF4,hmmpanther:PTHR10153,Pfam_domain:PF02888,Gene3D:1.10.287.70,SMART_domains:SM01053,Superfamily_domains:SSF81327	.	.	ENSP00000262888	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000262888	Transcript	.	.	ENSG00000104783	6293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.12)	.	KCNN4_HUMAN	KCNN4	HGNC	M0R2E8_HUMAN,M0QZ70_HUMAN	.	UPI0000000DF3	SNV	KCNN4,missense_variant,p.Met112Val,ENST00000598836,;KCNN4,missense_variant,p.Met6Val,ENST00000600909,;KCNN4,missense_variant,p.Met374Val,ENST00000262888,;KCNN4,splice_region_variant,,ENST00000597184,;KCNN4,splice_region_variant,,ENST00000599720,;KCNN4,splice_region_variant,,ENST00000600408,;KCNN4,splice_region_variant,,ENST00000601549,;	1516	65	76	SUCCESS
PTGIR	5739	.	GRCh37	19	47127137	47127137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765751581	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	52	0	ENST00000291294.2:c.346G>A	p.Glu116Lys	p.E116K	ENST00000291294	NM_000960.3	116	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12686.1	346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTCCACGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF7,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000291294	.	2/3	.	.	.	.	.	.	.	.	rs765751581	2/3	PASS	ENST00000291294	Transcript	.	.	ENSG00000160013	9602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PI2R_HUMAN	PTGIR	HGNC	M0QZW0_HUMAN,M0QZI2_HUMAN,M0QXV5_HUMAN	.	UPI000005042B	SNV	PTGIR,missense_variant,p.Glu116Lys,ENST00000596260,;PTGIR,missense_variant,p.Glu116Lys,ENST00000291294,;PTGIR,intron_variant,,ENST00000597185,;PTGIR,intron_variant,,ENST00000594275,;PTGIR,intron_variant,,ENST00000598865,;PTGIR,non_coding_transcript_exon_variant,,ENST00000595460,;	480	52	86	SUCCESS
TPRX1	284355	.	GRCh37	19	48305315	48305315	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767710487	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	33	0	ENST00000322175.3:c.953C>G	p.Pro318Arg	p.P318R	ENST00000322175	NM_198479.2	318	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS33066.1	953	MUTECT|MUSE|VARSCANS	.	GAGCTGGGACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF18	.	.	ENSP00000323455	.	2/2	.	.	.	.	.	.	.	.	rs767710487	2/2	PASS	ENST00000322175	Transcript	.	.	ENSG00000178928	32174	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.904)	.	tolerated(0.16)	.	TPRX1_HUMAN	TPRX1	HGNC	.	.	UPI0000198666	SNV	TPRX1,missense_variant,p.Pro308Arg,ENST00000543508,;TPRX1,missense_variant,p.Pro318Arg,ENST00000322175,;TPRX1,missense_variant,p.Pro415Arg,ENST00000535759,;	1109	33	54	SUCCESS
TPRX1	284355	.	GRCh37	19	48305786	48305786	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202132729	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	19	120	0	ENST00000322175.3:c.482C>T	p.Ala161Val	p.A161V	ENST00000322175	NM_198479.2	161	gCc/gTc	0	A:0.0005	A:0.0015	.	A:0	.	A	A/V	protein_coding	YES	CCDS33066.1	482	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGGCTGGG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF18	A:0	A:0	ENSP00000323455	A:0	2/2	.	.	.	.	.	.	.	.	rs202132729	2/2	PASS	ENST00000322175	Transcript	.	A:0.0004	ENSG00000178928	32174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	A:0	tolerated(0.53)	.	TPRX1_HUMAN	TPRX1	HGNC	.	.	UPI0000198666	SNV	TPRX1,missense_variant,p.Ala161Val,ENST00000322175,;TPRX1,missense_variant,p.Ala258Val,ENST00000535759,;TPRX1,intron_variant,,ENST00000543508,;	638	120	193	SUCCESS
PRR12	57479	.	GRCh37	19	50102990	50102992	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	CTC	CTC	.	.	.	.	.	.	.	.	.	.	.	.	.	93	21	78	0	ENST00000418929.2:c.4143_4145del	p.Ser1382del	p.S1382del	ENST00000418929	NM_020719.1	1380	ttCTCc/ttc	0	.	.	.	.	.	-	FS/F	protein_coding	YES	CCDS46143.1	4140-4142	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCTTCTCCTCGG	NONE	.	.	hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	.	.	ENSP00000394510	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	deletion	PRR12,inframe_deletion,p.Ser1382del,ENST00000418929,;	4152-4154	78	114	SUCCESS
ZNF808	388558	.	GRCh37	19	53056843	53056843	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781003695	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	93	69	0	ENST00000359798.4:c.674A>T	p.His225Leu	p.H225L	ENST00000359798	NM_001039886.3	225	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS46167.1	674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACACATGA	NONE	byFrequency	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,Superfamily_domains:SSF57667	.	.	ENSP00000352846	.	5/5	.	.	.	.	.	.	.	.	rs781003695	5/5	PASS	ENST00000359798	Transcript	.	.	ENSG00000198482	33230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0)	.	ZN808_HUMAN	ZNF808	HGNC	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN	.	UPI000041AA80	SNV	ZNF808,missense_variant,p.His225Leu,ENST00000359798,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.His156Leu,ENST00000487863,;	854	69	147	SUCCESS
BIRC8	112401	.	GRCh37	19	53793422	53793422	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	115	128	0	ENST00000426466.1:c.206T>A	p.Leu69Gln	p.L69Q	ENST00000426466	NM_033341.4	69	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12863.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCAGATAT	NONE	.	.	PROSITE_profiles:PS50143,hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,PROSITE_patterns:PS01282,Gene3D:1.10.1170.10,Pfam_domain:PF00653,SMART_domains:SM00238,Superfamily_domains:SSF57924	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,missense_variant,p.Leu69Gln,ENST00000426466,;	1454	128	183	SUCCESS
NLRP2	55655	.	GRCh37	19	55493848	55493848	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	43	117	0	ENST00000448584.2:c.782T>A	p.Leu261Gln	p.L261Q	ENST00000448584	NM_001174083.1	261	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12913.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCTGGTCT	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Pfam_domain:PF05729,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000445135	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Leu239Gln,ENST00000339757,;NLRP2,missense_variant,p.Leu261Gln,ENST00000543010,;NLRP2,missense_variant,p.Leu261Gln,ENST00000448584,;NLRP2,missense_variant,p.Leu238Gln,ENST00000427260,;NLRP2,missense_variant,p.Leu239Gln,ENST00000537859,;NLRP2,missense_variant,p.Leu258Gln,ENST00000263437,;NLRP2,missense_variant,p.Leu237Gln,ENST00000391721,;NLRP2,missense_variant,p.Leu237Gln,ENST00000538819,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000381637,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;	925	117	163	SUCCESS
RPL28	6158	.	GRCh37	19	55898416	55898416	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	0	13	12	0	ENST00000344063.2:c.205+355G>T		p.*69*	ENST00000344063				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46189.1	.	RADIA|MUTECT|MUSE	.	CAACAGGGGAG	NONE	.	.	.	.	.	ENSP00000452909	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000558815	Transcript	.	.	ENSG00000108107	10330	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RL28_HUMAN	RPL28	HGNC	.	.	UPI0001824648	SNV	RPL28,3_prime_UTR_variant,,ENST00000558752,;RPL28,intron_variant,,ENST00000558131,;RPL28,intron_variant,,ENST00000428193,;RPL28,intron_variant,,ENST00000560055,;RPL28,intron_variant,,ENST00000560583,;RPL28,intron_variant,,ENST00000458349,;RPL28,intron_variant,,ENST00000559463,;RPL28,intron_variant,,ENST00000558815,;RPL28,intron_variant,,ENST00000344063,;RPL28,downstream_gene_variant,,ENST00000431533,;TMEM238,upstream_gene_variant,,ENST00000444469,;RPL28,non_coding_transcript_exon_variant,,ENST00000426763,;RPL28,non_coding_transcript_exon_variant,,ENST00000560881,;	.	12	13	SUCCESS
ZNF256	10172	.	GRCh37	19	58453484	58453484	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	23	101	0	ENST00000282308.3:c.692G>C	p.Gly231Ala	p.G231A	ENST00000282308	NM_005773.2	231	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS12966.1	692	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCCCTGG	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,Superfamily_domains:SSF57667	.	.	ENSP00000282308	.	3/3	.	.	.	.	.	.	.	.	COSM4082250,COSM4082251	3/3	PASS	ENST00000282308	Transcript	.	.	ENSG00000152454	13049	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.42)	.	tolerated(0.74)	1,1	ZN256_HUMAN	ZNF256	HGNC	.	.	UPI00001D69EC	SNV	ZNF256,missense_variant,p.Gly231Ala,ENST00000282308,;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	889	101	188	SUCCESS
MUC16	94025	.	GRCh37	19	9071656	9071656	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	94	0	ENST00000397910.4:c.15790T>G	p.Ser5264Ala	p.S5264A	ENST00000397910	NM_024690.2	5264	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS54212.1	15790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGATTTTG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser5264Ala,ENST00000397910,;	15994	94	47	SUCCESS
OLFM3	118427	.	GRCh37	1	102270187	102270187	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	82	127	0	ENST00000338858.5:c.1044C>A	p.Asp348Glu	p.D348E	ENST00000338858		348	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS30781.1	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGGTCGAT	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000359121	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,missense_variant,p.Asp348Glu,ENST00000338858,;OLFM3,missense_variant,p.Asp328Glu,ENST00000370103,;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;	1198	127	163	SUCCESS
CELSR2	1952	.	GRCh37	1	109801478	109801478	+	synonymous_variant	Silent	SNP	G	G	A	rs1178141209	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	72	1	ENST00000271332.3:c.3735G>A	p.Ser1245=	p.S1245=	ENST00000271332	NM_001408.2	1245	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS796.1	3735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGGTGCT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000271332	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,synonymous_variant,p.%3D,ENST00000271332,;	3796	73	62	SUCCESS
NOTCH2	4853	.	GRCh37	1	120462971	120462971	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1317975644	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	118	0	ENST00000256646.2:c.5360G>A	p.Arg1787Gln	p.R1787Q	ENST00000256646	NM_024408.3	1787	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS908.1	5360	MUTECT|MUSE	.	ATGGCCGTCGA	NONE	.	.	hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,PIRSF_domain:PIRSF002279	.	.	ENSP00000256646	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,missense_variant,p.Arg1787Gln,ENST00000256646,;NOTCH2,downstream_gene_variant,,ENST00000493703,;	5580	118	104	SUCCESS
FCGR1B	2210	.	GRCh37	1	120928482	120928482	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	152	426	0	ENST00000369384.4:c.563-1065G>A		p.*188*	ENST00000369384	NM_001017986.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30821.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCATGTA	NONE	.	.	.	.	.	ENSP00000358391	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369384	Transcript	.	.	ENSG00000198019	3614	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCGRB_HUMAN	FCGR1B	HGNC	.	.	UPI0000071A38	SNV	FCGR1B,intron_variant,,ENST00000369384,;FCGR1B,intron_variant,,ENST00000369383,;RP11-439A17.10,intron_variant,,ENST00000426275,;RP11-439A17.9,intron_variant,,ENST00000457996,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000472543,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000471609,;FCGR1B,intron_variant,,ENST00000369178,;FCGR1B,upstream_gene_variant,,ENST00000466915,;	.	426	372	SUCCESS
DVL1	1855	.	GRCh37	1	1274703	1274703	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	135	0	ENST00000378888.5:c.1171T>G	p.Ser391Ala	p.S391A	ENST00000378888		391	Tcc/Gcc	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS22.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGCTGG	NONE	.	.	.	.	.	ENSP00000368169	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378891	Transcript	.	.	ENSG00000107404	3084	.	.	MODIFIER	11/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DVL1_HUMAN	DVL1	HGNC	Q6PJD6_HUMAN,B7Z6B5_HUMAN,B7Z1E8_HUMAN	.	UPI000013D455	SNV	DVL1,missense_variant,p.Ser391Ala,ENST00000378888,;DVL1,intron_variant,,ENST00000378891,;TAS1R3,downstream_gene_variant,,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000472445,;	.	136	116	SUCCESS
GJA5	2702	.	GRCh37	1	147230478	147230478	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	25	99	0	ENST00000271348.2:c.869A>G	p.Gln290Arg	p.Q290R	ENST00000271348	NM_005266.6	290	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS929.1	869	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTGGGAG	NONE	.	.	hmmpanther:PTHR11984:SF13,hmmpanther:PTHR11984,Superfamily_domains:0049114	.	.	ENSP00000271348	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000271348	Transcript	.	.	ENSG00000143140	4279	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	tolerated(0.16)	.	CXA5_HUMAN	GJA5	HGNC	.	.	UPI000013D8D2	SNV	GJA5,missense_variant,p.Gln290Arg,ENST00000271348,;GJA5,missense_variant,p.Gln290Arg,ENST00000369237,;GJA5,downstream_gene_variant,,ENST00000430508,;RP11-433J22.2,non_coding_transcript_exon_variant,,ENST00000428911,;	1031	99	177	SUCCESS
VPS45	11311	.	GRCh37	1	150054960	150054960	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782085785	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	111	108	0	ENST00000369130.3:c.1097C>T	p.Ala366Val	p.A366V	ENST00000369130	NM_001279354.1	366	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS944.1	1097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGCTCTCC	NONE	.	.	hmmpanther:PTHR11679:SF3,hmmpanther:PTHR11679,Gene3D:1.25.40.60,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000358126	.	10/15	.	.	.	.	.	.	.	.	rs782085785	10/15	PASS	ENST00000369130	Transcript	.	.	ENSG00000136631	14579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.22)	.	VPS45_HUMAN	VPS45	HGNC	.	.	UPI00000015E6	SNV	VPS45,missense_variant,p.Ala366Val,ENST00000369130,;VPS45,missense_variant,p.Ala297Val,ENST00000419023,;VPS45,missense_variant,p.Ala261Val,ENST00000369128,;VPS45,missense_variant,p.Ala297Val,ENST00000535106,;VPS45,non_coding_transcript_exon_variant,,ENST00000477558,;	1643	108	165	SUCCESS
CRTC2	200186	.	GRCh37	1	153924016	153924016	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	34	25	0	ENST00000368633.1:c.1124C>A	p.Ser375Tyr	p.S375Y	ENST00000368633	NM_181715.2	375	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS30875.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGAGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589	.	.	ENSP00000357622	.	11/14	.	.	.	.	.	.	.	.	COSM224177	11/14	PASS	ENST00000368633	Transcript	.	.	ENSG00000160741	27301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	CRTC2_HUMAN	CRTC2	HGNC	Q8WZ18_HUMAN,Q8N332_HUMAN	.	UPI00001A9468	SNV	CRTC2,missense_variant,p.Ser375Tyr,ENST00000368633,;CRTC2,missense_variant,p.Ser55Tyr,ENST00000368630,;DENND4B,upstream_gene_variant,,ENST00000361217,;CRTC2,downstream_gene_variant,,ENST00000492073,;CRTC2,downstream_gene_variant,,ENST00000476883,;CRTC2,missense_variant,p.Ser295Tyr,ENST00000461638,;CRTC2,3_prime_UTR_variant,,ENST00000303569,;CRTC2,non_coding_transcript_exon_variant,,ENST00000524997,;CRTC2,intron_variant,,ENST00000487235,;CRTC2,downstream_gene_variant,,ENST00000467860,;CRTC2,downstream_gene_variant,,ENST00000493909,;	1252	25	51	SUCCESS
UBE2Q1	55585	.	GRCh37	1	154527989	154527989	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	66	0	ENST00000292211.4:c.452G>A	p.Arg151Lys	p.R151K	ENST00000292211	NM_017582.6	151	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS1069.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCTCTTC	NONE	.	.	Superfamily_domains:SSF54495,hmmpanther:PTHR24068:SF46,hmmpanther:PTHR24068	.	.	ENSP00000292211	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000292211	Transcript	.	.	ENSG00000160714	15698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.29)	.	UB2Q1_HUMAN	UBE2Q1	HGNC	Q29SN7_HUMAN	.	UPI00001A36E2	SNV	UBE2Q1,missense_variant,p.Arg151Lys,ENST00000292211,;UBE2Q1-AS1,downstream_gene_variant,,ENST00000441613,;UBE2Q1,non_coding_transcript_exon_variant,,ENST00000497453,;UBE2Q1,upstream_gene_variant,,ENST00000491572,;UBE2Q1,upstream_gene_variant,,ENST00000476612,;UBE2Q1,upstream_gene_variant,,ENST00000467683,;UBE2Q1,upstream_gene_variant,,ENST00000483639,;UBE2Q1,upstream_gene_variant,,ENST00000474181,;	532	66	94	SUCCESS
DCST1	149095	.	GRCh37	1	155023119	155023119	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767413928	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	18	0	ENST00000295542.1:c.1896C>A	p.His632Gln	p.H632Q	ENST00000295542	NM_152494.3	632	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS1083.1	1896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACCGCGG	NONE	byFrequency	.	hmmpanther:PTHR21041:SF5,hmmpanther:PTHR21041	.	.	ENSP00000295542	.	17/17	.	.	.	.	.	.	.	.	rs767413928	17/17	PASS	ENST00000295542	Transcript	.	.	ENSG00000163357	26539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.15)	.	DCST1_HUMAN	DCST1	HGNC	.	.	UPI000013E269	SNV	DCST1,missense_variant,p.His607Gln,ENST00000423025,;DCST1,missense_variant,p.His632Gln,ENST00000295542,;DCST1,downstream_gene_variant,,ENST00000392480,;ADAM15,upstream_gene_variant,,ENST00000447332,;ADAM15,upstream_gene_variant,,ENST00000531455,;ADAM15,upstream_gene_variant,,ENST00000355956,;ADAM15,upstream_gene_variant,,ENST00000449910,;ADAM15,upstream_gene_variant,,ENST00000271836,;ADAM15,upstream_gene_variant,,ENST00000359280,;ADAM15,upstream_gene_variant,,ENST00000368412,;ADAM15,upstream_gene_variant,,ENST00000356955,;DCST1,downstream_gene_variant,,ENST00000368419,;ADAM15,upstream_gene_variant,,ENST00000360674,;ADAM15,upstream_gene_variant,,ENST00000368410,;ADAM15,upstream_gene_variant,,ENST00000368413,;RP11-307C12.11,upstream_gene_variant,,ENST00000452962,;ADAM15,non_coding_transcript_exon_variant,,ENST00000473905,;ADAM15,upstream_gene_variant,,ENST00000531703,;ADAM15,upstream_gene_variant,,ENST00000477533,;ADAM15,upstream_gene_variant,,ENST00000487956,;ADAM15,upstream_gene_variant,,ENST00000485346,;ADAM15,upstream_gene_variant,,ENST00000472434,;ADAM15,upstream_gene_variant,,ENST00000531831,;ADAM15,upstream_gene_variant,,ENST00000533732,;ADAM15,upstream_gene_variant,,ENST00000480331,;ADAM15,upstream_gene_variant,,ENST00000461564,;DCST1,downstream_gene_variant,,ENST00000525273,;ADAM15,upstream_gene_variant,,ENST00000529473,;ADAM15,upstream_gene_variant,,ENST00000527418,;ADAM15,upstream_gene_variant,,ENST00000526491,;ADAM15,upstream_gene_variant,,ENST00000534019,;	1992	18	24	SUCCESS
MIB2	142678	.	GRCh37	1	1561031	1561031	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	39	64	0	ENST00000505820.2:c.1315A>T	p.Lys439Ter	p.K439*	ENST00000505820		439	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS41224.2	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCAAGGTG	NONE	.	.	hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202	.	.	ENSP00000426103	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,stop_gained,p.Lys425Ter,ENST00000355826,;MIB2,stop_gained,p.Lys233Ter,ENST00000514234,;MIB2,stop_gained,p.Lys382Ter,ENST00000360522,;MIB2,stop_gained,p.Lys338Ter,ENST00000504599,;MIB2,stop_gained,p.Lys374Ter,ENST00000518681,;MIB2,stop_gained,p.Lys435Ter,ENST00000520777,;MIB2,stop_gained,p.Lys439Ter,ENST00000505820,;MIB2,stop_gained,p.Lys259Ter,ENST00000378712,;MIB2,stop_gained,p.Lys382Ter,ENST00000357210,;MIB2,intron_variant,,ENST00000378708,;MIB2,intron_variant,,ENST00000378710,;MIB2,downstream_gene_variant,,ENST00000503789,;MIB2,downstream_gene_variant,,ENST00000510793,;MIB2,upstream_gene_variant,,ENST00000483015,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,stop_gained,p.Lys29Ter,ENST00000486072,;MIB2,stop_gained,p.Lys338Ter,ENST00000487053,;MIB2,splice_region_variant,,ENST00000489635,;MIB2,splice_region_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000467597,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000508148,;MIB2,intron_variant,,ENST00000506488,;MIB2,intron_variant,,ENST00000507229,;MIB2,upstream_gene_variant,,ENST00000470373,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,upstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,downstream_gene_variant,,ENST00000508455,;	1332	64	70	SUCCESS
AIM2	9447	.	GRCh37	1	159043068	159043068	+	synonymous_variant	Silent	SNP	A	A	G	rs145394745	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	77	157	0	ENST00000368130.4:c.222T>C	p.Tyr74=	p.Y74=	ENST00000368130	NM_004833.1	74	taT/taC	0	G:0	.	.	.	.	G	Y	protein_coding	YES	CCDS1181.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATATAATT	NONE	byCluster	.	PROSITE_profiles:PS50824,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF17,Gene3D:1.10.533.10,Pfam_domain:PF02758,Superfamily_domains:SSF47986	.	G:0.0001	ENSP00000357112	.	2/6	.	.	.	.	.	.	.	.	rs145394745	2/6	PASS	ENST00000368130	Transcript	.	.	ENSG00000163568	357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIM2_HUMAN	AIM2	HGNC	Q5T3W0_HUMAN,Q5T3V8_HUMAN	.	UPI000012573B	SNV	AIM2,synonymous_variant,p.%3D,ENST00000368130,;AIM2,intron_variant,,ENST00000368129,;AIM2,non_coding_transcript_exon_variant,,ENST00000411768,;AIM2,upstream_gene_variant,,ENST00000481829,;	511	157	210	SUCCESS
NCSTN	23385	.	GRCh37	1	160323960	160323960	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	34	118	0	ENST00000294785.5:c.1232T>G	p.Val411Gly	p.V411G	ENST00000294785	NM_015331.2	411	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS1203.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTCATCC	NONE	.	.	hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092,Pfam_domain:PF05450,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000294785	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000294785	Transcript	.	.	ENSG00000162736	17091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.02)	.	NICA_HUMAN	NCSTN	HGNC	E7ENA9_HUMAN	.	UPI0000042050	SNV	NCSTN,missense_variant,p.Val155Gly,ENST00000424754,;NCSTN,missense_variant,p.Val411Gly,ENST00000294785,;NCSTN,missense_variant,p.Val273Gly,ENST00000535857,;NCSTN,missense_variant,p.Val391Gly,ENST00000368063,;NCSTN,missense_variant,p.Val153Gly,ENST00000368065,;NCSTN,missense_variant,p.Val88Gly,ENST00000435149,;NCSTN,missense_variant,p.Val247Gly,ENST00000424645,;NCSTN,missense_variant,p.Val391Gly,ENST00000392212,;NCSTN,downstream_gene_variant,,ENST00000437169,;NCSTN,downstream_gene_variant,,ENST00000421914,;NCSTN,downstream_gene_variant,,ENST00000438008,;NCSTN,non_coding_transcript_exon_variant,,ENST00000459963,;NCSTN,upstream_gene_variant,,ENST00000469159,;NCSTN,upstream_gene_variant,,ENST00000491390,;NCSTN,downstream_gene_variant,,ENST00000491332,;NCSTN,downstream_gene_variant,,ENST00000467837,;	1357	118	128	SUCCESS
ATF6	22926	.	GRCh37	1	161832997	161832997	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	61	160	0	ENST00000367942.3:c.1614A>T	p.Ser538=	p.S538=	ENST00000367942	NM_007348.3	538	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1235.1	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAGGGAG	NONE	.	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF10	.	.	ENSP00000356919	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000367942	Transcript	.	.	ENSG00000118217	791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATF6A_HUMAN	ATF6	HGNC	.	.	UPI000013D3E4	SNV	ATF6,synonymous_variant,p.%3D,ENST00000367942,;ATF6,downstream_gene_variant,,ENST00000476437,;	1681	160	210	SUCCESS
ASTN1	460	.	GRCh37	1	176915125	176915125	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	36	108	0	ENST00000361833.2:c.2186T>C	p.Phe729Ser	p.F729S	ENST00000361833		729	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS1319.1	2186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGAACATC	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.279)	.	tolerated(0.06)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Phe737Ser,ENST00000367654,;ASTN1,missense_variant,p.Phe729Ser,ENST00000424564,;ASTN1,missense_variant,p.Phe729Ser,ENST00000361833,;ASTN1,missense_variant,p.Phe729Ser,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	2200	108	134	SUCCESS
RGS16	6004	.	GRCh37	1	182569551	182569551	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	67	0	ENST00000367558.5:c.485T>A	p.Leu162Gln	p.L162Q	ENST00000367558	NM_002928.3	162	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1348.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCAGGGTA	NONE	.	.	Prints_domain:PR01301,Superfamily_domains:SSF48097,SMART_domains:SM00315,Gene3D:1.10.167.10,Pfam_domain:PF00615,hmmpanther:PTHR10845,PROSITE_profiles:PS50132	.	.	ENSP00000356529	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367558	Transcript	.	.	ENSG00000143333	9997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RGS16_HUMAN	RGS16	HGNC	.	.	UPI000013D8E9	SNV	RGS16,missense_variant,p.Leu162Gln,ENST00000367558,;	634	67	69	SUCCESS
KCNK2	3776	.	GRCh37	1	215345508	215345508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	19	96	0	ENST00000444842.2:c.805T>A	p.Phe269Ile	p.F269I	ENST00000444842	NM_014217.3	269	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS41467.1	805	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGATTTGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324,Prints_domain:PR01333	.	.	ENSP00000394033	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000444842	Transcript	.	.	ENSG00000082482	6277	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.885)	.	tolerated(0.1)	.	KCNK2_HUMAN	KCNK2	HGNC	C9JXY2_HUMAN,C9JDK1_HUMAN	.	UPI000013D4B8	SNV	KCNK2,missense_variant,p.Phe269Ile,ENST00000444842,;KCNK2,missense_variant,p.Phe265Ile,ENST00000391895,;KCNK2,missense_variant,p.Phe254Ile,ENST00000391894,;KCNK2,downstream_gene_variant,,ENST00000478774,;KCNK2,downstream_gene_variant,,ENST00000457122,;KCNK2,3_prime_UTR_variant,,ENST00000486921,;KCNK2,3_prime_UTR_variant,,ENST00000470177,;KCNK2,intron_variant,,ENST00000474771,;KCNK2,intron_variant,,ENST00000467031,;	955	96	142	SUCCESS
USP48	84196	.	GRCh37	1	22083087	22083087	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	141	270	0	ENST00000308271.9:c.364A>T	p.Ser122Cys	p.S122C	ENST00000308271	NM_032236.5	122	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS30623.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTTGGAC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF100,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000309262	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.03)	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,missense_variant,p.Ser122Cys,ENST00000421625,;USP48,missense_variant,p.Ser122Cys,ENST00000529637,;USP48,missense_variant,p.Ser122Cys,ENST00000308271,;USP48,missense_variant,p.Ser122Cys,ENST00000400301,;USP48,5_prime_UTR_variant,,ENST00000532737,;USP48,5_prime_UTR_variant,,ENST00000527823,;USP48,downstream_gene_variant,,ENST00000489108,;	1013	270	287	SUCCESS
C1orf35	79169	.	GRCh37	1	228290668	228290668	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	15	13	0	ENST00000272139.4:c.177G>T	p.Ala59=	p.A59=	ENST00000272139	NM_024319.2	59	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1566.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGCGCA	NONE	.	.	hmmpanther:PTHR14580,hmmpanther:PTHR14580:SF0,Pfam_domain:PF10159	.	.	ENSP00000272139	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000272139	Transcript	.	.	ENSG00000143793	19032	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMTA2_HUMAN	C1orf35	HGNC	.	.	UPI000006F89B	SNV	C1orf35,synonymous_variant,p.%3D,ENST00000272139,;MRPL55,downstream_gene_variant,,ENST00000366746,;MRPL55,downstream_gene_variant,,ENST00000366747,;MRPL55,downstream_gene_variant,,ENST00000336300,;MRPL55,downstream_gene_variant,,ENST00000366736,;MRPL55,downstream_gene_variant,,ENST00000366733,;MRPL55,downstream_gene_variant,,ENST00000366732,;MRPL55,downstream_gene_variant,,ENST00000366731,;MRPL55,downstream_gene_variant,,ENST00000366741,;ARF1,downstream_gene_variant,,ENST00000541182,;MRPL55,downstream_gene_variant,,ENST00000366738,;MRPL55,downstream_gene_variant,,ENST00000430433,;MRPL55,downstream_gene_variant,,ENST00000391867,;MRPL55,downstream_gene_variant,,ENST00000366742,;MRPL55,downstream_gene_variant,,ENST00000366740,;MRPL55,downstream_gene_variant,,ENST00000457264,;MRPL55,downstream_gene_variant,,ENST00000336520,;ARF1,downstream_gene_variant,,ENST00000540651,;MRPL55,downstream_gene_variant,,ENST00000366734,;MRPL55,downstream_gene_variant,,ENST00000366739,;ARF1,downstream_gene_variant,,ENST00000272102,;MRPL55,downstream_gene_variant,,ENST00000366735,;MRPL55,downstream_gene_variant,,ENST00000366744,;MRPL55,downstream_gene_variant,,ENST00000348259,;MRPL55,downstream_gene_variant,,ENST00000411464,;MRPL55,downstream_gene_variant,,ENST00000295008,;C1orf35,non_coding_transcript_exon_variant,,ENST00000469781,;C1orf35,non_coding_transcript_exon_variant,,ENST00000492757,;C1orf35,non_coding_transcript_exon_variant,,ENST00000465199,;C1orf35,non_coding_transcript_exon_variant,,ENST00000491293,;C1orf35,non_coding_transcript_exon_variant,,ENST00000472617,;C1orf35,non_coding_transcript_exon_variant,,ENST00000485896,;MRPL55,downstream_gene_variant,,ENST00000465397,;MRPL55,downstream_gene_variant,,ENST00000463898,;ARF1,downstream_gene_variant,,ENST00000478424,;ARF1,downstream_gene_variant,,ENST00000470670,;ARF1,downstream_gene_variant,,ENST00000478336,;MRPL55,downstream_gene_variant,,ENST00000464148,;MRPL55,downstream_gene_variant,,ENST00000497758,;ARF1,downstream_gene_variant,,ENST00000477821,;ARF1,downstream_gene_variant,,ENST00000470558,;MRPL55,downstream_gene_variant,,ENST00000459783,;MRPL55,downstream_gene_variant,,ENST00000465268,;	412	13	21	SUCCESS
DISC1	27185	.	GRCh37	1	232144628	232144628	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755669097	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	19	96	0	ENST00000439617.2:c.2140C>A	p.Leu714Met	p.L714M	ENST00000439617	NM_001164540.1	714	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	.	.	2140	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCTGTCT	NONE	.	.	hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF2	.	.	ENSP00000403888	.	11/13	.	.	.	.	.	.	.	.	rs755669097	11/13	PASS	ENST00000439617	Transcript	.	.	ENSG00000162946	2888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0.04)	.	.	DISC1	HGNC	C4P0C8_HUMAN,B1AM64_HUMAN	.	UPI0000458AE0	SNV	DISC1,missense_variant,p.Leu714Met,ENST00000439617,;DISC1,missense_variant,p.Leu46Met,ENST00000366637,;DISC1,synonymous_variant,p.%3D,ENST00000535983,;DISC1,3_prime_UTR_variant,,ENST00000537876,;DISC1,non_coding_transcript_exon_variant,,ENST00000427560,;DISC1,3_prime_UTR_variant,,ENST00000422590,;	2193	96	134	SUCCESS
MTR	4548	.	GRCh37	1	237025590	237025590	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	79	0	ENST00000366577.5:c.2251A>T	p.Met751Leu	p.M751L	ENST00000366577	NM_000254.2	751	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS1614.1	2251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCATGGAA	NONE	.	.	Superfamily_domains:0035624,SMART_domains:SM01018,PIRSF_domain:PIRSF000381,TIGRFAM_domain:TIGR02082,Gene3D:3bulA01,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS51337	.	.	ENSP00000355536	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000366577	Transcript	.	.	ENSG00000116984	7468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.12)	.	METH_HUMAN	MTR	HGNC	.	.	UPI0000036BC4	SNV	MTR,missense_variant,p.Met305Leu,ENST00000366576,;MTR,missense_variant,p.Met751Leu,ENST00000366577,;MTR,missense_variant,p.Met700Leu,ENST00000535889,;	2645	79	92	SUCCESS
KIF26B	55083	.	GRCh37	1	245851297	245851297	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	53	0	ENST00000407071.2:c.5012G>T	p.Arg1671Met	p.R1671M	ENST00000407071	NM_018012.3	1671	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS44342.1	5012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGGGCGA	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Arg1671Met,ENST00000407071,;KIF26B,missense_variant,p.Arg1290Met,ENST00000366518,;KIF26B,downstream_gene_variant,,ENST00000483253,;	5452	53	67	SUCCESS
AHCTF1	25909	.	GRCh37	1	247013752	247013752	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	137	162	0	ENST00000326225.3:c.5583A>T	p.Pro1861=	p.P1861=	ENST00000326225	NM_015446.4	1861	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1629.2	5583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCTGGTTC	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,synonymous_variant,p.%3D,ENST00000391829,;AHCTF1,synonymous_variant,p.%3D,ENST00000366508,;AHCTF1,synonymous_variant,p.%3D,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,upstream_gene_variant,,ENST00000498601,;	5680	162	221	SUCCESS
OR2L3	391192	.	GRCh37	1	248224411	248224411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	26	64	0	ENST00000359959.3:c.428T>C	p.Met143Thr	p.M143T	ENST00000359959	NM_001004687.1	143	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS31104.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATGATAA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000353044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359959	Transcript	.	.	ENSG00000198128	15009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.845)	.	deleterious(0.02)	.	OR2L3_HUMAN	OR2L3	HGNC	.	.	UPI0000061EB8	SNV	OR2L3,missense_variant,p.Met143Thr,ENST00000359959,;OR2L13,intron_variant,,ENST00000366478,;	428	64	110	SUCCESS
C1orf63	0	.	GRCh37	1	25571745	25571745	+	synonymous_variant	Silent	SNP	G	G	A	rs147790749	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	71	0	ENST00000243189.7:c.568C>T	p.Leu190=	p.L190=	ENST00000243189	NM_020317.3	190	Cta/Tta	0	A:0.0002	.	.	.	.	A	L	protein_coding	YES	CCDS260.1	568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTAGAGCTT	NONE	byCluster	.	hmmpanther:PTHR10548:SF89,hmmpanther:PTHR10548	.	A:0	ENSP00000243189	.	3/5	.	.	.	.	.	.	.	.	rs147790749	3/5	PASS	ENST00000243189	Transcript	.	.	ENSG00000117616	25234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA063_HUMAN	C1orf63	HGNC	H3BVB7_HUMAN,H3BT33_HUMAN,H3BMX3_HUMAN	.	UPI000006DFA6	SNV	C1orf63,synonymous_variant,p.%3D,ENST00000431849,;C1orf63,synonymous_variant,p.%3D,ENST00000243189,;C1orf63,synonymous_variant,p.%3D,ENST00000417642,;C1orf63,downstream_gene_variant,,ENST00000561867,;C1orf63,downstream_gene_variant,,ENST00000568996,;C1orf63,downstream_gene_variant,,ENST00000568701,;RP3-465N24.6,upstream_gene_variant,,ENST00000607698,;C1orf63,non_coding_transcript_exon_variant,,ENST00000475766,;C1orf63,upstream_gene_variant,,ENST00000564223,;C1orf63,upstream_gene_variant,,ENST00000569495,;C1orf63,synonymous_variant,p.%3D,ENST00000568254,;C1orf63,synonymous_variant,p.%3D,ENST00000566395,;C1orf63,synonymous_variant,p.%3D,ENST00000565733,;C1orf63,synonymous_variant,p.%3D,ENST00000473314,;C1orf63,non_coding_transcript_exon_variant,,ENST00000498238,;C1orf63,non_coding_transcript_exon_variant,,ENST00000568212,;C1orf63,non_coding_transcript_exon_variant,,ENST00000570063,;C1orf63,upstream_gene_variant,,ENST00000491378,;	845	71	59	SUCCESS
TMEM57	0	.	GRCh37	1	25810611	25810611	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	101	252	0	ENST00000374343.4:c.1159G>A	p.Glu387Lys	p.E387K	ENST00000374343	NM_018202.4	387	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS30638.1	1159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGAACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13289:SF4,hmmpanther:PTHR13289,Pfam_domain:PF09726	.	.	ENSP00000363463	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000374343	Transcript	.	.	ENSG00000204178	25572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MACOI_HUMAN	TMEM57	HGNC	Q9H5V1_HUMAN	.	UPI000004A074	SNV	TMEM57,missense_variant,p.Glu29Lys,ENST00000399763,;TMEM57,missense_variant,p.Glu160Lys,ENST00000399766,;TMEM57,missense_variant,p.Glu387Lys,ENST00000374343,;	1338	252	250	SUCCESS
SLC30A2	7780	.	GRCh37	1	26365755	26365755	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764331750	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	37	67	0	ENST00000374278.3:c.868A>T	p.Ser290Cys	p.S290C	ENST00000374278	NM_032513.3	290	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS30644.1	1015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTGCTGG	NONE	.	.	hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF30,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:SSF160240	.	.	ENSP00000363394	.	8/8	.	.	.	.	.	.	.	.	rs764331750	8/8	PASS	ENST00000374276	Transcript	.	.	ENSG00000158014	11013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.09)	.	ZNT2_HUMAN	SLC30A2	HGNC	.	.	UPI0000049F98	SNV	SLC30A2,missense_variant,p.Ser290Cys,ENST00000374278,;SLC30A2,missense_variant,p.Ser339Cys,ENST00000374276,;EXTL1,downstream_gene_variant,,ENST00000374280,;EXTL1,downstream_gene_variant,,ENST00000470037,;SLC30A2,downstream_gene_variant,,ENST00000498060,;	1252	67	71	SUCCESS
COL16A1	1307	.	GRCh37	1	32157244	32157244	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	79	210	0	ENST00000373672.3:c.1258-1G>T		p.X420_splice	ENST00000373672	NM_001856.3	420		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41297.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCTGTGG	NONE	.	.	.	.	.	ENSP00000362776	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	HIGH	17/70	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,splice_acceptor_variant,,ENST00000373672,;COL16A1,splice_acceptor_variant,,ENST00000373667,;COL16A1,splice_acceptor_variant,,ENST00000373668,;COL16A1,splice_acceptor_variant,,ENST00000271069,;COL16A1,upstream_gene_variant,,ENST00000482478,;COL16A1,upstream_gene_variant,,ENST00000529928,;COL16A1,upstream_gene_variant,,ENST00000474000,;	.	211	176	SUCCESS
OSCP1	127700	.	GRCh37	1	36904373	36904373	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	36	0	ENST00000356637.5:c.281A>T	p.Gln94Leu	p.Q94L	ENST00000356637		94	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS409.2	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTGGTTC	NONE	.	.	Pfam_domain:PF10188,hmmpanther:PTHR21439	.	.	ENSP00000235532	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000235532	Transcript	.	.	ENSG00000116885	29971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	tolerated(0.14)	.	OSCP1_HUMAN	OSCP1	HGNC	C9JF58_HUMAN	.	UPI000059CFA3	SNV	OSCP1,missense_variant,p.Gln94Leu,ENST00000315643,;OSCP1,missense_variant,p.Gln94Leu,ENST00000356637,;OSCP1,missense_variant,p.Gln84Leu,ENST00000235532,;OSCP1,missense_variant,p.Gln84Leu,ENST00000354267,;OSCP1,missense_variant,p.Gln39Leu,ENST00000433045,;OSCP1,missense_variant,p.Gln54Leu,ENST00000445843,;OSCP1,3_prime_UTR_variant,,ENST00000524789,;OSCP1,non_coding_transcript_exon_variant,,ENST00000528112,;	333	36	37	SUCCESS
EPHA10	284656	.	GRCh37	1	38230698	38230698	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	41	0	ENST00000373048.4:c.41T>A	p.Leu14His	p.L14H	ENST00000373048	NM_001099439.1	14	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS41305.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGAGGAAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	.	.	ENSP00000362139	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.298)	.	tolerated(0.12)	.	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,missense_variant,p.Leu14His,ENST00000319637,;EPHA10,missense_variant,p.Leu14His,ENST00000427468,;EPHA10,missense_variant,p.Leu14His,ENST00000373048,;	41	41	36	SUCCESS
YBX1	4904	.	GRCh37	1	43162928	43162928	+	synonymous_variant	Silent	SNP	C	C	T	rs1344500059	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	52	208	0	ENST00000321358.7:c.735C>T	p.Phe245=	p.F245=	ENST00000321358	NM_004559.3	245	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS470.1	735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATTCCGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11544	.	.	ENSP00000361626	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000321358	Transcript	.	.	ENSG00000065978	8014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YBOX1_HUMAN	YBX1	HGNC	A0JLU4_HUMAN	.	UPI0000001C6B	SNV	YBX1,synonymous_variant,p.%3D,ENST00000332220,;YBX1,synonymous_variant,p.%3D,ENST00000436427,;YBX1,synonymous_variant,p.%3D,ENST00000321358,;YBX1,downstream_gene_variant,,ENST00000467957,;	874	208	164	SUCCESS
FAM73A	0	.	GRCh37	1	78325806	78325806	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1397414626	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	33	113	0	ENST00000370791.3:c.1270C>T	p.Arg424Ter	p.R424*	ENST00000370791	NM_001270384.1	424	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS681.1	1270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCACGAAAG	NONE	.	.	hmmpanther:PTHR21508:SF3,hmmpanther:PTHR21508,Pfam_domain:PF10265	.	.	ENSP00000359827	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000370791	Transcript	.	.	ENSG00000180488	24741	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA73A_HUMAN	FAM73A	HGNC	R4GMP2_HUMAN,B7ZLZ8_HUMAN	.	UPI00000722C6	SNV	FAM73A,stop_gained,p.Arg386Ter,ENST00000443751,;FAM73A,stop_gained,p.Arg424Ter,ENST00000370791,;FAM73A,non_coding_transcript_exon_variant,,ENST00000476203,;	1302	113	92	SUCCESS
MCOLN2	255231	.	GRCh37	1	85403666	85403666	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	144	355	0	ENST00000370608.3:c.1210A>T	p.Asn404Tyr	p.N404Y	ENST00000370608	NM_153259.2	404	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS30762.1	1210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATTATATG	NONE	.	.	Pfam_domain:PF08016,hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF4	.	.	ENSP00000359640	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000370608	Transcript	.	.	ENSG00000153898	13357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	MCLN2_HUMAN	MCOLN2	HGNC	G5EA24_HUMAN	.	UPI00001D7674	SNV	MCOLN2,missense_variant,p.Asn404Tyr,ENST00000370608,;MCOLN2,missense_variant,p.Asn376Tyr,ENST00000284027,;MCOLN2,splice_region_variant,,ENST00000531325,;MCOLN2,splice_region_variant,,ENST00000463065,;	1278	355	347	SUCCESS
ABCA4	24	.	GRCh37	1	94548999	94548999	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	rs754536977	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	33	0	ENST00000370225.3:c.769-2A>T		p.X257_splice	ENST00000370225	NM_000350.2	257		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS747.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGTAAT	NONE	.	.	.	.	.	ENSP00000359245	.	.	.	.	.	.	.	.	.	.	rs754536977	.	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	HIGH	6/49	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,splice_acceptor_variant,,ENST00000370225,;ABCA4,splice_acceptor_variant,,ENST00000535735,;	.	33	48	SUCCESS
LPPR5	0	.	GRCh37	1	99418684	99418684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	86	0	ENST00000263177.4:c.563G>T	p.Arg188Leu	p.R188L	ENST00000263177	NM_001037317.1	188	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS30778.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCGGGCT	NONE	.	.	hmmpanther:PTHR10165:SF17,hmmpanther:PTHR10165,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000263177	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000263177	Transcript	.	.	ENSG00000117598	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LPPR5_HUMAN	LPPR5	Uniprot_gn	.	.	UPI0000048D53	SNV	LPPR5,missense_variant,p.Arg188Leu,ENST00000263177,;LPPR5,missense_variant,p.Arg188Leu,ENST00000370188,;	785	86	86	SUCCESS
TASP1	55617	.	GRCh37	20	13550171	13550171	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745690186	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	28	39	0	ENST00000337743.4:c.551C>A	p.Pro184His	p.P184H	ENST00000337743	NM_017714.2	184	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS13116.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGGAGGG	NONE	.	.	hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF8,Pfam_domain:PF01112,Superfamily_domains:SSF56235	.	.	ENSP00000338624	.	7/14	.	.	.	.	.	.	.	.	rs745690186	7/14	PASS	ENST00000337743	Transcript	.	.	ENSG00000089123	15859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	deleterious(0.01)	.	TASP1_HUMAN	TASP1	HGNC	.	.	UPI00000382E5	SNV	TASP1,missense_variant,p.Pro184His,ENST00000337743,;TASP1,missense_variant,p.Pro161His,ENST00000455532,;TASP1,intron_variant,,ENST00000539805,;TASP1,non_coding_transcript_exon_variant,,ENST00000480436,;TASP1,intron_variant,,ENST00000465381,;	672	39	41	SUCCESS
CSRP2BP	0	.	GRCh37	20	18123282	18123282	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	91	0	ENST00000435364.3:c.-23G>A		p.*8*	ENST00000435364	NM_020536.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13133.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGCCGAG	NONE	.	.	.	.	.	ENSP00000392318	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000435364	Transcript	.	.	ENSG00000149474	15904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSR2B_HUMAN	CSRP2BP	HGNC	D6RAU4_HUMAN	.	UPI000013DB91	SNV	CSRP2BP,5_prime_UTR_variant,,ENST00000377681,;CSRP2BP,5_prime_UTR_variant,,ENST00000464792,;CSRP2BP,5_prime_UTR_variant,,ENST00000435364,;PET117,3_prime_UTR_variant,,ENST00000432901,;CSRP2BP,upstream_gene_variant,,ENST00000489634,;CSRP2BP,downstream_gene_variant,,ENST00000492286,;CSRP2BP,downstream_gene_variant,,ENST00000484001,;CSRP2BP,downstream_gene_variant,,ENST00000489422,;	319	91	87	SUCCESS
GZF1	64412	.	GRCh37	20	23350846	23350846	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750525985	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	11	161	0	ENST00000338121.5:c.1904C>T	p.Ser635Leu	p.S635L	ENST00000338121		635	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS13151.1	1904	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCGGATA	NONE	byFrequency	.	hmmpanther:PTHR24402:SF170,hmmpanther:PTHR24402	.	.	ENSP00000338290	.	6/6	.	.	.	.	.	.	.	.	rs750525985	6/6	PASS	ENST00000338121	Transcript	.	.	ENSG00000125812	15808	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	tolerated(0.11)	.	GZF1_HUMAN	GZF1	HGNC	Q5JXG1_HUMAN,F5H2R0_HUMAN,B4DF58_HUMAN	.	UPI000013C35D	SNV	GZF1,missense_variant,p.Ser635Leu,ENST00000377051,;GZF1,missense_variant,p.Ser159Leu,ENST00000544236,;GZF1,missense_variant,p.Ser144Leu,ENST00000542987,;GZF1,missense_variant,p.Ser635Leu,ENST00000338121,;NAPB,downstream_gene_variant,,ENST00000377026,;NAPB,downstream_gene_variant,,ENST00000398425,;GZF1,non_coding_transcript_exon_variant,,ENST00000477239,;GZF1,downstream_gene_variant,,ENST00000461789,;	1981	161	108	SUCCESS
C20orf112	0	.	GRCh37	20	31043960	31043960	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	51	0	ENST00000359676.5:c.348G>A	p.Leu116=	p.L116=	ENST00000359676	NM_080616.4	116	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13202.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGCAGCCC	NONE	.	.	hmmpanther:PTHR12449:SF16,hmmpanther:PTHR12449	.	.	ENSP00000352704	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000359676	Transcript	.	.	ENSG00000197183	16106	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT112_HUMAN	C20orf112	HGNC	.	.	UPI0000128600	SNV	C20orf112,synonymous_variant,p.%3D,ENST00000359676,;RP5-1184F4.5,downstream_gene_variant,,ENST00000442179,;C20orf112,non_coding_transcript_exon_variant,,ENST00000475781,;	491	51	43	SUCCESS
RBPJL	11317	.	GRCh37	20	43942173	43942173	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370206478	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	44	55	0	ENST00000343694.3:c.685C>T	p.Arg229Cys	p.R229C	ENST00000343694	NM_001281449.1	229	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS13349.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACGCTAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10665,hmmpanther:PTHR10665:SF2,Gene3D:2.80.10.50,Pfam_domain:PF09270,Superfamily_domains:0049692	.	T:0.0001	ENSP00000341243	.	7/12	.	.	.	.	.	.	.	.	rs370206478	7/12	PASS	ENST00000343694	Transcript	.	.	ENSG00000124232	13761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RBPJL_HUMAN	RBPJL	HGNC	.	.	UPI0000047297	SNV	RBPJL,missense_variant,p.Arg229Cys,ENST00000343694,;RBPJL,missense_variant,p.Arg229Cys,ENST00000372743,;RBPJL,missense_variant,p.Arg229Cys,ENST00000372741,;RBPJL,upstream_gene_variant,,ENST00000464504,;	757	55	61	SUCCESS
PREX1	57580	.	GRCh37	20	47273608	47273608	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	34	0	ENST00000371941.3:c.2093T>A	p.Leu698Gln	p.L698Q	ENST00000371941	NM_020820.3	698	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS13410.1	2093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCAGAGGG	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000361009	.	18/40	.	.	.	.	.	.	.	.	.	18/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Leu698Gln,ENST00000396220,;PREX1,missense_variant,p.Leu698Gln,ENST00000371941,;PREX1,missense_variant,p.Leu20Gln,ENST00000482556,;	2116	34	44	SUCCESS
PREX1	57580	.	GRCh37	20	47444283	47444283	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	66	0	ENST00000371941.3:c.115G>A	p.Ala39Thr	p.A39T	ENST00000371941	NM_020820.3	39	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13410.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCCGCGC	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1.20.900.10	.	.	ENSP00000361009	.	1/40	.	.	.	.	.	.	.	.	.	1/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	tolerated_low_confidence(0.07)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Ala39Thr,ENST00000396220,;PREX1,missense_variant,p.Ala39Thr,ENST00000371941,;	138	66	57	SUCCESS
ATP9A	10079	.	GRCh37	20	50305604	50305604	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	60	88	0	ENST00000338821.5:c.798A>T		p.X266_splice	ENST00000338821	NM_006045.1	266	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33489.1	798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTGATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24092:SF49,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Gene3D:2.70.150.10,Pfam_domain:PF00122,Superfamily_domains:0049471	.	.	ENSP00000342481	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000338821	Transcript	.	.	ENSG00000054793	13540	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP9A_HUMAN	ATP9A	HGNC	Q2NLD0_HUMAN,B4DR18_HUMAN	.	UPI000004D334	SNV	ATP9A,synonymous_variant,p.%3D,ENST00000338821,;ATP9A,intron_variant,,ENST00000402822,;ATP9A,intron_variant,,ENST00000311637,;	1063	89	96	SUCCESS
ZFP64	55734	.	GRCh37	20	50782528	50782528	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	61	100	0	ENST00000216923.4:c.323A>T	p.Gln108Leu	p.Q108L	ENST00000216923	NM_199426.1	108	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13440.1	323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTGATAG	NONE	.	.	hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27	.	.	ENSP00000216923	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000216923	Transcript	.	.	ENSG00000020256	15940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	deleterious(0.01)	.	ZF64A_HUMAN	ZFP64	HGNC	B3KQX0_HUMAN	.	UPI000006D699	SNV	ZFP64,missense_variant,p.Gln106Leu,ENST00000371515,;ZFP64,missense_variant,p.Gln108Leu,ENST00000216923,;ZFP64,missense_variant,p.Gln108Leu,ENST00000371518,;ZFP64,missense_variant,p.Gln108Leu,ENST00000361387,;ZFP64,intron_variant,,ENST00000346617,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;	673	100	87	SUCCESS
PHACTR3	116154	.	GRCh37	20	58318246	58318246	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	97	175	0	ENST00000371015.1:c.203T>A	p.Leu68Gln	p.L68Q	ENST00000371015	NM_080672.4	68	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13480.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGGCCA	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Leu27Gln,ENST00000541461,;PHACTR3,missense_variant,p.Leu27Gln,ENST00000395636,;PHACTR3,missense_variant,p.Leu27Gln,ENST00000395639,;PHACTR3,missense_variant,p.Leu65Gln,ENST00000359926,;PHACTR3,missense_variant,p.Leu27Gln,ENST00000355648,;PHACTR3,missense_variant,p.Leu27Gln,ENST00000361300,;PHACTR3,missense_variant,p.Leu68Gln,ENST00000371015,;PHACTR3,downstream_gene_variant,,ENST00000434923,;	670	175	141	SUCCESS
PSMA7	5688	.	GRCh37	20	60713291	60713291	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs981402555	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	86	132	0	ENST00000370873.4:c.527A>G	p.Tyr176Cys	p.Y176C	ENST00000370873	NM_002792.3	176	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13489.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTATAGTTC	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF40,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	.	ENSP00000359910	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000370873	Transcript	.	.	ENSG00000101182	9536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	PSA7_HUMAN	PSMA7	HGNC	.	.	UPI00000354E4	SNV	PSMA7,missense_variant,p.Tyr102Cys,ENST00000442551,;PSMA7,missense_variant,p.Tyr106Cys,ENST00000370861,;PSMA7,missense_variant,p.Tyr176Cys,ENST00000370873,;PSMA7,downstream_gene_variant,,ENST00000370858,;LSM14B,downstream_gene_variant,,ENST00000279068,;LSM14B,downstream_gene_variant,,ENST00000253001,;PSMA7,non_coding_transcript_exon_variant,,ENST00000484488,;PSMA7,non_coding_transcript_exon_variant,,ENST00000486193,;	654	132	124	SUCCESS
RUNX1	861	.	GRCh37	21	36421297	36421297	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs780565125	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	22	0	ENST00000300305.3:c.-101G>T		p.*34*	ENST00000300305				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13639.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACCCCTC	NONE	.	.	.	.	.	ENSP00000300305	.	1/8	.	.	.	.	.	.	.	.	rs780565125	1/8	PASS	ENST00000300305	Transcript	.	.	ENSG00000159216	10471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUNX1_HUMAN	RUNX1	HGNC	.	.	UPI000015FE6A	SNV	RUNX1,5_prime_UTR_variant,,ENST00000300305,;RUNX1,intron_variant,,ENST00000486278,;RUNX1,intron_variant,,ENST00000455571,;RUNX1,intron_variant,,ENST00000416754,;RUNX1,intron_variant,,ENST00000437180,;RUNX1,intron_variant,,ENST00000475045,;RUNX1,intron_variant,,ENST00000482318,;	345	22	21	SUCCESS
ITGB2	3689	.	GRCh37	21	46308698	46308698	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	21	34	0	ENST00000302347.5:c.1990G>C	p.Glu664Gln	p.E664Q	ENST00000302347	NM_000211.3	664	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS13716.1	1990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCCTTGC	NONE	.	.	Superfamily_domains:0039775,PIRSF_domain:PIRSF002512,Pfam_domain:PF07965,hmmpanther:PTHR10082:SF15,hmmpanther:PTHR10082	.	.	ENSP00000380948	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.12)	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Glu664Gln,ENST00000397850,;ITGB2,missense_variant,p.Glu664Gln,ENST00000355153,;ITGB2,missense_variant,p.Glu664Gln,ENST00000397852,;ITGB2,missense_variant,p.Glu664Gln,ENST00000397857,;ITGB2,missense_variant,p.Glu664Gln,ENST00000302347,;ITGB2,missense_variant,p.Glu607Gln,ENST00000397854,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000479202,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,non_coding_transcript_exon_variant,,ENST00000475170,;	2443	34	30	SUCCESS
PCBP3	54039	.	GRCh37	21	47333904	47333904	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	30	0	ENST00000400314.1:c.640C>T	p.Pro214Ser	p.P214S	ENST00000400314		214	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42974.2	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCCCGCC	NONE	.	.	Superfamily_domains:SSF54791,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF98	.	.	ENSP00000383168	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000400314	Transcript	.	.	ENSG00000183570	8651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	deleterious(0.03)	.	PCBP3_HUMAN	PCBP3	HGNC	.	.	UPI00005989D5	SNV	PCBP3,missense_variant,p.Pro214Ser,ENST00000400310,;PCBP3,missense_variant,p.Pro214Ser,ENST00000400314,;PCBP3,missense_variant,p.Pro214Ser,ENST00000449640,;PCBP3,missense_variant,p.Pro214Ser,ENST00000400309,;PCBP3,missense_variant,p.Pro182Ser,ENST00000400304,;PCBP3,intron_variant,,ENST00000400305,;PCBP3,intron_variant,,ENST00000400308,;PCBP3,non_coding_transcript_exon_variant,,ENST00000468429,;PCBP3,upstream_gene_variant,,ENST00000475402,;	978	30	24	SUCCESS
P2RX6	9127	.	GRCh37	22	21377002	21377002	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	73	0	ENST00000413302.2:c.425A>T	p.Glu142Val	p.E142V	ENST00000413302		142	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13788.2	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACGAGGACT	NONE	.	.	hmmpanther:PTHR10125:SF21,hmmpanther:PTHR10125,Gene3D:3h9vA02,TIGRFAM_domain:TIGR00863,Pfam_domain:PF00864	.	.	ENSP00000416193	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000413302	Transcript	.	.	ENSG00000099957	8538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.14)	.	P2RX6_HUMAN	P2RX6	HGNC	.	.	UPI000013C698	SNV	P2RX6,missense_variant,p.Glu116Val,ENST00000401443,;P2RX6,missense_variant,p.Glu142Val,ENST00000413302,;P2RX6,missense_variant,p.Glu132Val,ENST00000336296,;P2RX6,missense_variant,p.Glu89Val,ENST00000443995,;P2RX6,intron_variant,,ENST00000402329,;P2RX6,downstream_gene_variant,,ENST00000591411,;P2RX6,3_prime_UTR_variant,,ENST00000432930,;P2RX6,intron_variant,,ENST00000442475,;P2RX6,intron_variant,,ENST00000422210,;P2RX6,intron_variant,,ENST00000452228,;P2RX6,upstream_gene_variant,,ENST00000487342,;P2RX6,downstream_gene_variant,,ENST00000469722,;	573	73	93	SUCCESS
PRR14L	253143	.	GRCh37	22	32108298	32108298	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs745720123	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	71	129	0	ENST00000327423.6:c.5527A>T	p.Ser1843Cys	p.S1843C	ENST00000327423	NM_173566.2	1843	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS13900.2	5527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTGGAGA	NONE	.	.	hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0	.	.	ENSP00000331845	.	4/9	.	.	.	.	.	.	.	.	rs745720123	4/9	PASS	ENST00000327423	Transcript	.	.	ENSG00000183530	28738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	PR14L_HUMAN	PRR14L	HGNC	C9J9V0_HUMAN	.	UPI0000207582	SNV	PRR14L,missense_variant,p.Ser1843Cys,ENST00000434485,;PRR14L,missense_variant,p.Ser1843Cys,ENST00000397493,;PRR14L,missense_variant,p.Ser146Cys,ENST00000330495,;PRR14L,missense_variant,p.Ser1843Cys,ENST00000327423,;PRR14L,non_coding_transcript_exon_variant,,ENST00000492705,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,missense_variant,p.Ser512Cys,ENST00000431684,;	5717	129	143	SUCCESS
KCNJ4	3761	.	GRCh37	22	38823554	38823554	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	28	43	0	ENST00000303592.3:c.584T>A	p.Val195Glu	p.V195E	ENST00000303592	NM_152868.2	195	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS13971.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCACCGAA	BUFFER|p.S194L|c.581C>T|3	.	.	hmmpanther:PTHR11767:SF13,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000306497	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303592	Transcript	.	.	ENSG00000168135	6265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.05)	.	IRK4_HUMAN	KCNJ4	HGNC	Q58F07_HUMAN	.	UPI000012D89B	SNV	KCNJ4,missense_variant,p.Val195Glu,ENST00000303592,;RP3-434P1.6,downstream_gene_variant,,ENST00000433230,;	843	43	50	SUCCESS
PNPLA3	80339	.	GRCh37	22	44332942	44332942	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	47	0	ENST00000216180.3:c.769A>T	p.Arg257Trp	p.R257W	ENST00000216180	NM_025225.2	257	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS14054.1	769	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCAACAGGCCC	NONE	.	.	hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF22,Superfamily_domains:SSF52151	.	.	ENSP00000216180	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000216180	Transcript	.	.	ENSG00000100344	18590	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.05)	.	PLPL3_HUMAN	PNPLA3	HGNC	U3N901_HUMAN	.	UPI000006CED5	SNV	PNPLA3,missense_variant,p.Arg257Trp,ENST00000216180,;PNPLA3,missense_variant,p.Arg253Trp,ENST00000423180,;PNPLA3,non_coding_transcript_exon_variant,,ENST00000497129,;PNPLA3,downstream_gene_variant,,ENST00000478713,;PNPLA3,3_prime_UTR_variant,,ENST00000406117,;	942	47	46	SUCCESS
PRR5-ARHGAP8	553158	.	GRCh37	22	45210622	45210622	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs770712193	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	72	0	ENST00000352766.7:c.1000T>G	p.Leu334Val	p.L334V	ENST00000352766		334	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS54538.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTTGAAG	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF3,Gene3D:3.40.525.10,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000374423	.	8/15	.	.	.	.	.	.	.	.	rs770712193	8/15	PASS	ENST00000389773	Transcript	.	.	ENSG00000241484	677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.02)	.	.	ARHGAP8	HGNC	Q52M44_HUMAN,F8W6F3_HUMAN,B1AHC2_HUMAN,A2RU51_HUMAN	.	UPI000199A4B6	SNV	ARHGAP8,missense_variant,p.Leu124Val,ENST00000336963,;PRR5-ARHGAP8,missense_variant,p.Leu178Val,ENST00000515632,;ARHGAP8,missense_variant,p.Leu124Val,ENST00000356099,;PRR5-ARHGAP8,missense_variant,p.Leu334Val,ENST00000352766,;ARHGAP8,missense_variant,p.Leu334Val,ENST00000517296,;ARHGAP8,missense_variant,p.Leu246Val,ENST00000389773,;ARHGAP8,missense_variant,p.Leu155Val,ENST00000389774,;PRR5-ARHGAP8,missense_variant,p.Leu255Val,ENST00000361473,;ARHGAP8,downstream_gene_variant,,ENST00000412433,;ARHGAP8,missense_variant,p.Leu144Arg,ENST00000447333,;ARHGAP8,3_prime_UTR_variant,,ENST00000389772,;ARHGAP8,non_coding_transcript_exon_variant,,ENST00000460809,;ARHGAP8,non_coding_transcript_exon_variant,,ENST00000498310,;PRR5-ARHGAP8,downstream_gene_variant,,ENST00000495250,;	736	72	80	SUCCESS
RGPD4	285190	.	GRCh37	2	108487504	108487504	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775666928	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	60	212	0	ENST00000408999.3:c.3044C>A	p.Ala1015Glu	p.A1015E	ENST00000408999	NM_182588.2	1015	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS46381.1	3044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGCAAACA	BUFFER|p.G1019S|c.3055G>A|3	byFrequency	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	rs775666928	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	tolerated(0.21)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Ala1015Glu,ENST00000408999,;RGPD4,missense_variant,p.Ala1015Glu,ENST00000354986,;	3121	212	159	SUCCESS
SNTG2	54221	.	GRCh37	2	1094065	1094065	+	synonymous_variant	Silent	SNP	C	C	T	rs369324271	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	35	167	0	ENST00000308624.5:c.294C>T	p.Val98=	p.V98=	ENST00000308624	NM_018968.3	98	gtC/gtT	0	T:0	.	.	.	.	T	V	protein_coding	YES	CCDS46220.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTCGTCAT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554,PROSITE_profiles:PS50106	.	T:0.0002	ENSP00000311837	.	4/17	.	.	.	.	.	.	.	.	rs369324271,COSM2982693	4/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,synonymous_variant,p.%3D,ENST00000308624,;SNTG2,intron_variant,,ENST00000407292,;SNTG2,upstream_gene_variant,,ENST00000463442,;SNTG2,synonymous_variant,p.%3D,ENST00000452177,;SNTG2,synonymous_variant,p.%3D,ENST00000450962,;	423	167	145	SUCCESS
ZC3H6	376940	.	GRCh37	2	113067546	113067546	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	76	263	0	ENST00000343936.4:c.421A>T	p.Ser141Cys	p.S141C	ENST00000343936		141	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46393.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACAGCACC	NONE	.	.	hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22	.	.	ENSP00000386764	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000409871	Transcript	.	.	ENSG00000188177	24762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZC3H6_HUMAN	ZC3H6	HGNC	.	.	UPI00004215E8	SNV	ZC3H6,missense_variant,p.Ser141Cys,ENST00000343936,;ZC3H6,missense_variant,p.Ser141Cys,ENST00000409871,;ZC3H6,non_coding_transcript_exon_variant,,ENST00000476511,;	822	263	235	SUCCESS
CSRNP3	80034	.	GRCh37	2	166535809	166535809	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	30	97	0	ENST00000314499.7:c.1304T>A	p.Leu435Gln	p.L435Q	ENST00000314499	NM_001172173.1	435	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS2225.1	1304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCTGTATT	NONE	.	.	hmmpanther:PTHR13580:SF13,hmmpanther:PTHR13580	.	.	ENSP00000318258	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000314499	Transcript	.	.	ENSG00000178662	30729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.3)	.	CSRN3_HUMAN	CSRNP3	HGNC	E7EN18_HUMAN,B8ZZD9_HUMAN	.	UPI0000136882	SNV	CSRNP3,missense_variant,p.Leu467Gln,ENST00000409420,;CSRNP3,missense_variant,p.Leu435Gln,ENST00000342316,;CSRNP3,missense_variant,p.Leu435Gln,ENST00000421875,;CSRNP3,missense_variant,p.Leu435Gln,ENST00000314499,;CSRNP3,downstream_gene_variant,,ENST00000409664,;	1680	97	54	SUCCESS
SLC25A12	8604	.	GRCh37	2	172666177	172666177	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	199	0	ENST00000422440.2:c.1244A>T	p.Asp415Val	p.D415V	ENST00000422440	NM_003705.4	415	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS33327.1	1244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGTCCCGA	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF204,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000388658	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,missense_variant,p.Asp415Val,ENST00000422440,;SLC25A12,missense_variant,p.Asp308Val,ENST00000392592,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000494892,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;	1282	199	153	SUCCESS
SMC6	79677	.	GRCh37	2	17896176	17896176	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745624947	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	7	92	0	ENST00000351948.4:c.1682C>T	p.Pro561Leu	p.P561L	ENST00000351948	NM_024624.5	561	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1690.1	1682	MUTECT|MUSE|VARSCANS	.	TTATCGGTGGC	NONE	.	.	hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF2,Pfam_domain:PF02463	.	.	ENSP00000404092	.	16/28	.	.	.	.	.	.	.	.	rs745624947	16/28	PASS	ENST00000448223	Transcript	.	.	ENSG00000163029	20466	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	deleterious(0.01)	.	SMC6_HUMAN	SMC6	HGNC	C9JEF0_HUMAN	.	UPI0000073C3B	SNV	SMC6,missense_variant,p.Pro587Leu,ENST00000381272,;SMC6,missense_variant,p.Pro587Leu,ENST00000446852,;SMC6,missense_variant,p.Pro561Leu,ENST00000448223,;SMC6,missense_variant,p.Pro561Leu,ENST00000351948,;SMC6,missense_variant,p.Pro561Leu,ENST00000402989,;SMC6,upstream_gene_variant,,ENST00000430591,;	1952	92	92	SUCCESS
PLEKHA3	65977	.	GRCh37	2	179345576	179345576	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	36	0	ENST00000234453.5:c.-21C>T		p.*7*	ENST00000234453	NM_019091.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33336.1	.	RADIA|MUSE	.	GGATGCGCGGT	NONE	.	.	.	.	.	ENSP00000234453	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000234453	Transcript	.	.	ENSG00000116095	14338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHA3_HUMAN	PLEKHA3	HGNC	.	.	UPI000000DA8A	SNV	PLEKHA3,5_prime_UTR_variant,,ENST00000234453,;FKBP7,upstream_gene_variant,,ENST00000434643,;FKBP7,upstream_gene_variant,,ENST00000424785,;FKBP7,upstream_gene_variant,,ENST00000470945,;PLEKHA3,upstream_gene_variant,,ENST00000461474,;FKBP7,upstream_gene_variant,,ENST00000464248,;PLEKHA3,5_prime_UTR_variant,,ENST00000453653,;FKBP7,upstream_gene_variant,,ENST00000412612,;FKBP7,upstream_gene_variant,,ENST00000233092,;FKBP7,upstream_gene_variant,,ENST00000419184,;FKBP7,upstream_gene_variant,,ENST00000435079,;	382	36	27	SUCCESS
TTN	7273	.	GRCh37	2	179407911	179407911	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	38	75	0	ENST00000591111.1:c.91866T>A	p.Thr30622=	p.T30622=	ENST00000591111		30622	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS59435.1	96789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACAGTGTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	347/363	.	.	.	.	.	.	.	.	.	347/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,downstream_gene_variant,,ENST00000585358,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000589391,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000592182,;TTN-AS1,downstream_gene_variant,,ENST00000450692,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000588244,;TTN-AS1,downstream_gene_variant,,ENST00000588804,;TTN-AS1,downstream_gene_variant,,ENST00000585487,;	97014	75	68	SUCCESS
TTN	7273	.	GRCh37	2	179594820	179594820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	48	0	ENST00000591111.1:c.17356G>A	p.Glu5786Lys	p.E5786K	ENST00000591111		5786	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS59435.1	18307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCTTTTA	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,SMART_domains:SM00406,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	62/363	.	.	.	.	.	.	.	.	.	62/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu4859Lys,ENST00000342992,;TTN,missense_variant,p.Glu6103Lys,ENST00000589042,;TTN,missense_variant,p.Glu5786Lys,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	18532	48	33	SUCCESS
TTN	7273	.	GRCh37	2	179611653	179611653	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	75	0	ENST00000591111.1:c.10361-5005T>G		p.*3454*	ENST00000591111				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAAGCTGA	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	.	76	72	SUCCESS
CCDC141	285025	.	GRCh37	2	179825979	179825979	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	56	116	0	ENST00000420890.2:c.758A>T	p.Gln253Leu	p.Q253L	ENST00000420890	NM_173648.3	253	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACTGACAT	NONE	.	.	hmmpanther:PTHR19897,Superfamily_domains:SSF46966	.	.	ENSP00000395995	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000420890	Transcript	.	.	ENSG00000163492	26821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.35)	.	.	CCDC141	HGNC	H7C0P1_HUMAN,E7ERF0_HUMAN	.	UPI0000EE2F1C	SNV	CCDC141,missense_variant,p.Gln253Leu,ENST00000420890,;CCDC141,missense_variant,p.Gln253Leu,ENST00000443758,;CCDC141,missense_variant,p.Gln253Leu,ENST00000409284,;CCDC141,missense_variant,p.Gln253Leu,ENST00000446116,;	876	116	94	SUCCESS
COL3A1	1281	.	GRCh37	2	189861938	189861938	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	112	0	ENST00000304636.3:c.1809C>A	p.Gly603=	p.G603=	ENST00000304636	NM_000090.3	603	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2297.1	1809	RADIA|MUTECT|MUSE	.	CCTGGCCCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	25/51	.	.	.	.	.	.	.	.	.	25/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,synonymous_variant,p.%3D,ENST00000317840,;COL3A1,synonymous_variant,p.%3D,ENST00000304636,;COL3A1,downstream_gene_variant,,ENST00000450867,;	1979	112	77	SUCCESS
MYT1L	23040	.	GRCh37	2	1926446	1926446	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	90	0	ENST00000399161.2:c.1095G>A	p.Glu365=	p.E365=	ENST00000399161	NM_015025.2	365	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS46222.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCCTCTTC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,synonymous_variant,p.%3D,ENST00000399161,;MYT1L,synonymous_variant,p.%3D,ENST00000428368,;MYT1L,synonymous_variant,p.%3D,ENST00000602387,;	1765	90	66	SUCCESS
DNAH7	56171	.	GRCh37	2	196765124	196765124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	41	172	0	ENST00000312428.6:c.4430T>A	p.Leu1477Gln	p.L1477Q	ENST00000312428	NM_018897.2	1477	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS42794.1	4430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACAGTGGT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	28/65	.	.	.	.	.	.	.	.	.	28/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Leu1477Gln,ENST00000312428,;DNAH7,non_coding_transcript_exon_variant,,ENST00000475293,;	4531	173	122	SUCCESS
BMPR2	659	.	GRCh37	2	203379609	203379609	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	55	0	ENST00000374580.4:c.530-2A>T		p.X177_splice	ENST00000374580	NM_001204.6	177		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33361.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATAGGAGA	BUFFER|p.R179H|c.536G>A|3	.	.	.	.	.	ENSP00000363708	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374580	Transcript	.	.	ENSG00000204217	1078	.	.	HIGH	4/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMPR2_HUMAN	BMPR2	HGNC	.	.	UPI0000126A3B	SNV	BMPR2,splice_acceptor_variant,,ENST00000374574,;BMPR2,splice_acceptor_variant,,ENST00000374580,;	.	55	55	SUCCESS
ADAM23	8745	.	GRCh37	2	207429764	207429764	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	69	0	ENST00000264377.3:c.1366T>A	p.Trp456Arg	p.W456R	ENST00000264377	NM_003812.3	456	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS2369.1	1366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTGGGGT	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01421,Gene3D:3.40.390.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50215	.	.	ENSP00000264377	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	deleterious(0)	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,missense_variant,p.Trp456Arg,ENST00000374415,;ADAM23,missense_variant,p.Trp456Arg,ENST00000374416,;ADAM23,missense_variant,p.Trp456Arg,ENST00000264377,;	1694	69	48	SUCCESS
STK36	27148	.	GRCh37	2	219553490	219553490	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	35	122	0	ENST00000295709.3:c.1451C>T	p.Ser484Phe	p.S484F	ENST00000295709	NM_015690.4	484	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2421.1	1451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000295709	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000295709	Transcript	.	.	ENSG00000163482	17209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0)	.	STK36_HUMAN	STK36	HGNC	C9JDA4_HUMAN,C9J1B8_HUMAN	.	UPI00000342FC	SNV	STK36,missense_variant,p.Ser484Phe,ENST00000392105,;STK36,missense_variant,p.Ser484Phe,ENST00000440309,;STK36,missense_variant,p.Ser484Phe,ENST00000295709,;STK36,missense_variant,p.Ser484Phe,ENST00000392106,;STK36,3_prime_UTR_variant,,ENST00000414413,;STK36,3_prime_UTR_variant,,ENST00000422778,;STK36,non_coding_transcript_exon_variant,,ENST00000470568,;STK36,upstream_gene_variant,,ENST00000486644,;STK36,upstream_gene_variant,,ENST00000492486,;STK36,upstream_gene_variant,,ENST00000480709,;	1730	122	114	SUCCESS
SPEG	10290	.	GRCh37	2	220341676	220341676	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	64	0	ENST00000312358.7:c.4532A>T	p.Lys1511Ile	p.K1511I	ENST00000312358	NM_005876.4	1511	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS42824.1	4532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAAACCAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	19/41	.	.	.	.	.	.	.	.	.	19/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Lys1511Ile,ENST00000312358,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000485069,;	4664	64	32	SUCCESS
INHA	3623	.	GRCh37	2	220439764	220439764	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	63	0	ENST00000243786.2:c.617C>A	p.Ser206Ter	p.S206*	ENST00000243786	NM_002191.3	206	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS2444.1	617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCAGCCC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF117,PIRSF_domain:PIRSF037328,Prints_domain:PR00669	.	.	ENSP00000243786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243786	Transcript	.	.	ENSG00000123999	6065	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INHA_HUMAN	INHA	HGNC	.	.	UPI000002C8C6	SNV	INHA,stop_gained,p.Ser206Ter,ENST00000243786,;OBSL1,upstream_gene_variant,,ENST00000603926,;OBSL1,upstream_gene_variant,,ENST00000289656,;OBSL1,upstream_gene_variant,,ENST00000373876,;OBSL1,upstream_gene_variant,,ENST00000265318,;OBSL1,upstream_gene_variant,,ENST00000404537,;OBSL1,upstream_gene_variant,,ENST00000373873,;INHA,non_coding_transcript_exon_variant,,ENST00000489456,;OBSL1,upstream_gene_variant,,ENST00000465589,;OBSL1,upstream_gene_variant,,ENST00000491370,;OBSL1,upstream_gene_variant,,ENST00000465149,;	797	63	37	SUCCESS
DOCK10	55619	.	GRCh37	2	225702538	225702538	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs369073678	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	54	0	ENST00000258390.7:c.2791G>C	p.Asp931His	p.D931H	ENST00000258390	NM_014689.2	931	Gac/Cac	0	T:0.0003	T:0.0008	.	T:0	.	G	D/H	protein_coding	YES	CCDS46528.1	2791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTCGGTCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	T:0	T:0	ENSP00000258390	T:0	25/56	.	.	.	.	.	.	.	.	rs369073678	25/56	PASS	ENST00000258390	Transcript	.	T:0.0002	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	T:0	tolerated(1)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Asp931His,ENST00000258390,;DOCK10,missense_variant,p.Asp925His,ENST00000409592,;DOCK10,non_coding_transcript_exon_variant,,ENST00000472652,;	2859	54	50	SUCCESS
PDE6D	5147	.	GRCh37	2	232602720	232602720	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	102	0	ENST00000287600.4:c.265+3A>G		p.X89_splice	ENST00000287600	NM_002601.2	89		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33398.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATACCTT	NONE	.	.	.	.	.	ENSP00000287600	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000287600	Transcript	.	.	ENSG00000156973	8788	.	.	LOW	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE6D_HUMAN	PDE6D	HGNC	Q6IB24_HUMAN,C9IZ52_HUMAN	.	UPI0000000C8B	SNV	PDE6D,splice_region_variant,,ENST00000428104,;PDE6D,splice_region_variant,,ENST00000409772,;PDE6D,splice_region_variant,,ENST00000287600,;PDE6D,non_coding_transcript_exon_variant,,ENST00000486044,;	.	102	65	SUCCESS
DIS3L2	129563	.	GRCh37	2	232894736	232894736	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	150	0	ENST00000325385.7:c.312A>G	p.Arg104=	p.R104=	ENST00000325385	NM_152383.4	104	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS42834.1	312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAGAGCCTT	NONE	.	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249	.	.	ENSP00000315569	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,synonymous_variant,p.%3D,ENST00000273009,;DIS3L2,synonymous_variant,p.%3D,ENST00000325385,;DIS3L2,synonymous_variant,p.%3D,ENST00000441279,;DIS3L2,synonymous_variant,p.%3D,ENST00000409401,;DIS3L2,synonymous_variant,p.%3D,ENST00000360410,;DIS3L2,synonymous_variant,p.%3D,ENST00000409307,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000470087,;DIS3L2,synonymous_variant,p.%3D,ENST00000445090,;DIS3L2,synonymous_variant,p.%3D,ENST00000433430,;DIS3L2,synonymous_variant,p.%3D,ENST00000390005,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000464554,;	588	150	85	SUCCESS
PASK	23178	.	GRCh37	2	242077365	242077365	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	100	0	ENST00000234040.4:c.876+3A>G		p.X292_splice	ENST00000234040	NM_001252119.1	292		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58759.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTACCTT	NONE	.	.	.	.	.	ENSP00000351475	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358649	Transcript	.	.	ENSG00000115687	17270	.	.	LOW	6/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PASK_HUMAN	PASK	HGNC	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN	.	UPI0000456F4C	SNV	PASK,splice_region_variant,,ENST00000405260,;PASK,splice_region_variant,,ENST00000415234,;PASK,splice_region_variant,,ENST00000358649,;PASK,splice_region_variant,,ENST00000403638,;PASK,splice_region_variant,,ENST00000433589,;PASK,splice_region_variant,,ENST00000544142,;PASK,splice_region_variant,,ENST00000539818,;PASK,splice_region_variant,,ENST00000234040,;PASK,downstream_gene_variant,,ENST00000452907,;PASK,splice_region_variant,,ENST00000437780,;PASK,upstream_gene_variant,,ENST00000493544,;PASK,downstream_gene_variant,,ENST00000485940,;	.	100	70	SUCCESS
SLC30A3	7781	.	GRCh37	2	27480785	27480785	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1165342398	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	128	0	ENST00000233535.4:c.566G>T	p.Cys189Phe	p.C189F	ENST00000233535	NM_003459.4	189	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS1743.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACAGACT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF36,hmmpanther:PTHR11562,Pfam_domain:PF01545,Gene3D:3h90A01,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606	.	.	ENSP00000233535	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000233535	Transcript	.	.	ENSG00000115194	11014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.1)	.	ZNT3_HUMAN	SLC30A3	HGNC	C9JM13_HUMAN,C9JHZ9_HUMAN,C9J1K4_HUMAN	.	UPI000006D0B4	SNV	SLC30A3,missense_variant,p.Cys140Phe,ENST00000432351,;SLC30A3,missense_variant,p.Cys167Phe,ENST00000424577,;SLC30A3,missense_variant,p.Cys184Phe,ENST00000447008,;SLC30A3,missense_variant,p.Cys189Phe,ENST00000233535,;SLC30A3,missense_variant,p.Cys176Phe,ENST00000426924,;SLC30A3,intron_variant,,ENST00000445870,;SLC30A3,downstream_gene_variant,,ENST00000426569,;SLC30A3,downstream_gene_variant,,ENST00000450118,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000497341,;SLC30A3,downstream_gene_variant,,ENST00000486309,;SLC30A3,upstream_gene_variant,,ENST00000482990,;	919	128	115	SUCCESS
SRD5A2	6716	.	GRCh37	2	31758776	31758776	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	73	0	ENST00000405650.1:n.508A>T		p.*170*	ENST00000405650				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCTCTGAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435713	Transcript	.	.	ENSG00000228563	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AL133247.2	Clone_based_vega_gene	.	.	.	SNV	AL133247.2,intron_variant,,ENST00000435713,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000233139,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000405650,;	.	73	41	SUCCESS
SPAST	6683	.	GRCh37	2	32341205	32341205	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	88	0	ENST00000315285.3:c.1022T>A	p.Phe341Tyr	p.F341Y	ENST00000315285	NM_014946.3	341	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS1778.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATTTGATG	NONE	.	.	HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,Gene3D:3.40.50.300,PIRSF_domain:PIRSF037338,Superfamily_domains:SSF52540	.	.	ENSP00000320885	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000315285	Transcript	.	.	ENSG00000021574	11233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	SPAST_HUMAN	SPAST	HGNC	E5KRP5_HUMAN	.	UPI0000038A6B	SNV	SPAST,missense_variant,p.Phe341Tyr,ENST00000315285,;SPAST,missense_variant,p.Phe309Tyr,ENST00000345662,;	1147	88	74	SUCCESS
LINC01118	388948	.	GRCh37	2	47045344	47045344	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	73	0	ENST00000409912.1:c.300A>T	p.Pro100=	p.P100=	ENST00000409912		100	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	.	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCAGATCA	NONE	.	.	.	.	.	ENSP00000386489	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000409912	Transcript	.	.	ENSG00000222005	49261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC01118	HGNC	B8ZZS1_HUMAN	.	UPI00001D7CC7	SNV	LINC01118,synonymous_variant,p.%3D,ENST00000409518,;LINC01118,synonymous_variant,p.%3D,ENST00000409912,;LINC01119,intron_variant,,ENST00000422294,;LINC01118,non_coding_transcript_exon_variant,,ENST00000479311,;	442	73	50	SUCCESS
STON1-GTF2A1L	286749	.	GRCh37	2	48848041	48848041	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757599863	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	77	0	ENST00000394754.1:c.2185C>G	p.Leu729Val	p.L729V	ENST00000394754	NM_172311.2	729	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS1840.1	2185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCTATTT	NONE	.	.	hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,Gene3D:1.10.287.100,Pfam_domain:PF03153,Superfamily_domains:SSF47396	.	.	ENSP00000378236	.	4/11	.	.	.	.	.	.	.	.	rs757599863	4/11	PASS	ENST00000394754	Transcript	.	.	ENSG00000068781	30651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	.	STON1-GTF2A1L	HGNC	Q53S48_HUMAN	.	UPI000013C976	SNV	STON1-GTF2A1L,missense_variant,p.Leu729Val,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Leu729Val,ENST00000394754,;STON1-GTF2A1L,missense_variant,p.Leu729Val,ENST00000402114,;STON1-GTF2A1L,missense_variant,p.Leu729Val,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Leu729Val,ENST00000394751,;GTF2A1L,missense_variant,p.Leu25Val,ENST00000403751,;GTF2A1L,missense_variant,p.Leu25Val,ENST00000437125,;GTF2A1L,intron_variant,,ENST00000430487,;GTF2A1L,intron_variant,,ENST00000448460,;GTF2A1L,non_coding_transcript_exon_variant,,ENST00000468326,;GTF2A1L,intron_variant,,ENST00000423675,;	2299	77	48	SUCCESS
CNRIP1	25927	.	GRCh37	2	68544310	68544310	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	62	178	0	ENST00000263655.3:c.309A>T	p.Gln103His	p.Q103H	ENST00000263655	NM_015463.2	103	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1886.1	309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGTTGCCG	NONE	.	.	hmmpanther:PTHR31952:SF1,hmmpanther:PTHR31952,Pfam_domain:PF15043	.	.	ENSP00000263655	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000263655	Transcript	.	.	ENSG00000119865	24546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CNRP1_HUMAN	CNRIP1	HGNC	.	.	UPI0000070FBE	SNV	CNRIP1,missense_variant,p.Gln103His,ENST00000409862,;CNRIP1,missense_variant,p.Gln103His,ENST00000409559,;CNRIP1,missense_variant,p.Gln103His,ENST00000263655,;CNRIP1,non_coding_transcript_exon_variant,,ENST00000481714,;	915	178	107	SUCCESS
IGKV5-2	28907	.	GRCh37	2	89197215	89197215	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762248458	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	95	0	ENST00000390244.2:c.260A>T	p.Tyr87Phe	p.Y87F	ENST00000390244		87	tAt/tTt	0	.	.	.	.	.	T	Y/F	IG_V_gene	YES	.	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTATGGAA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF117,PROSITE_profiles:PS50835	.	.	ENSP00000374779	.	2/2	.	.	.	.	.	.	.	.	rs762248458	2/2	PASS	ENST00000390244	Transcript	.	.	ENSG00000211599	5835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	deleterious(0.02)	.	KV501_HUMAN	IGKV5-2	HGNC	.	.	UPI000012E167	SNV	IGKV5-2,missense_variant,p.Tyr87Phe,ENST00000390244,;	323	96	74	SUCCESS
MORC1	27136	.	GRCh37	3	108698446	108698446	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201675482	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	114	0	ENST00000232603.5:c.2393G>T	p.Gly798Val	p.G798V	ENST00000232603	NM_014429.3	798	gGc/gTc	0	.	T:0	.	T:0	.	A	G/V	protein_coding	YES	CCDS2955.1	2393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGCCACTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	T:0	.	ENSP00000232603	T:0.001	24/28	.	.	.	.	.	.	.	.	rs201675482	24/28	PASS	ENST00000232603	Transcript	.	T:0.0002	ENSG00000114487	7198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	T:0	deleterious(0)	.	MORC1_HUMAN	MORC1	HGNC	.	.	UPI000013C964	SNV	MORC1,missense_variant,p.Gly777Val,ENST00000483760,;MORC1,missense_variant,p.Gly798Val,ENST00000232603,;	2476	114	94	SUCCESS
CD96	10225	.	GRCh37	3	111342600	111342600	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs77738677	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	101	267	0	ENST00000283285.5:c.1229-1G>T		p.X410_splice	ENST00000283285	NM_198196.2	410		0	A:0.0138	A:0.0129	.	A:0.0014	.	T	.	protein_coding	YES	CCDS2959.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGGATAT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000283285	A:0	.	.	.	.	.	.	.	.	.	rs77738677	.	PASS	ENST00000283285	Transcript	.	A:0.0036	ENSG00000153283	16892	.	.	HIGH	9/14	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TACT_HUMAN	CD96	HGNC	U3KPT0_HUMAN	.	UPI000013DD36	SNV	CD96,splice_acceptor_variant,,ENST00000283285,;CD96,splice_acceptor_variant,,ENST00000352690,;CD96,splice_acceptor_variant,,ENST00000494798,;	.	267	290	SUCCESS
ZBTB20	26137	.	GRCh37	3	114058003	114058003	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs758277701	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	64	0	ENST00000474710.1:c.2075del	p.Pro692LeufsTer43	p.P692Lfs*43	ENST00000474710	NM_001164342.1	692	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS54626.1	2075	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGCAGGGGGG	SITE|p.P619fs*43|c.1856delC|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF351	.	.	ENSP00000419153	.	5/5	.	.	.	.	.	.	.	.	rs758277701,COSM267785,COSM1243009	5/5	PASS	ENST00000474710	Transcript	.	.	ENSG00000181722	13503	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	ZBT20_HUMAN	ZBTB20	HGNC	C9JCX0_HUMAN	.	UPI0000141957	deletion	ZBTB20,frameshift_variant,p.Pro619LeufsTer43,ENST00000481632,;ZBTB20,frameshift_variant,p.Pro619LeufsTer43,ENST00000462705,;ZBTB20,frameshift_variant,p.Pro619LeufsTer43,ENST00000471418,;ZBTB20,frameshift_variant,p.Pro619LeufsTer43,ENST00000357258,;ZBTB20,frameshift_variant,p.Pro692LeufsTer43,ENST00000474710,;ZBTB20,frameshift_variant,p.Pro619LeufsTer43,ENST00000464560,;ZBTB20,frameshift_variant,p.Pro619LeufsTer43,ENST00000393785,;ZBTB20,downstream_gene_variant,,ENST00000479879,;	2254	64	87	SUCCESS
SLC12A8	84561	.	GRCh37	3	124909320	124909320	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	250	53	276	0	ENST00000393469.4:c.97A>T	p.Met33Leu	p.M33L	ENST00000393469	NM_001195483.1	33	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS43143.1	97	RADIA|MUTECT|MUSE|VARSCANS	.	CCACATGAACA	NONE	.	.	hmmpanther:PTHR11827:SF2,hmmpanther:PTHR11827	.	.	ENSP00000377112	.	2/13	.	.	.	.	.	.	.	.	COSM86749	2/13	PASS	ENST00000393469	Transcript	.	.	ENSG00000221955	15595	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.001)	.	deleterious(0.02)	1	S12A8_HUMAN	SLC12A8	HGNC	C9IZN2_HUMAN	.	UPI000049DFB2	SNV	SLC12A8,start_lost,p.Met1?,ENST00000462437,;SLC12A8,missense_variant,p.Met33Leu,ENST00000469902,;SLC12A8,missense_variant,p.Met33Leu,ENST00000393469,;SLC12A8,missense_variant,p.Met62Leu,ENST00000423114,;SLC12A8,5_prime_UTR_variant,,ENST00000314584,;SLC12A8,upstream_gene_variant,,ENST00000479826,;SLC12A8,missense_variant,p.Met18Leu,ENST00000473262,;	147	276	303	SUCCESS
NEK11	79858	.	GRCh37	3	130884346	130884346	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	93	161	0	ENST00000383366.4:c.1159A>T	p.Ser387Cys	p.S387C	ENST00000383366	NM_024800.4	387	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS3069.1	1159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGAGTGTT	NONE	.	.	hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362	.	.	ENSP00000372857	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000383366	Transcript	.	.	ENSG00000114670	18593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.592)	.	deleterious(0.02)	.	NEK11_HUMAN	NEK11	HGNC	.	.	UPI000013F25D	SNV	NEK11,missense_variant,p.Ser387Cys,ENST00000383366,;NEK11,missense_variant,p.Ser282Cys,ENST00000510769,;NEK11,missense_variant,p.Ser387Cys,ENST00000511262,;NEK11,missense_variant,p.Ser387Cys,ENST00000508196,;NEK11,missense_variant,p.Ser239Cys,ENST00000412440,;NEK11,missense_variant,p.Ser387Cys,ENST00000510688,;NEK11,missense_variant,p.Ser387Cys,ENST00000429253,;NEK11,missense_variant,p.Ser387Cys,ENST00000356918,;NEK11,missense_variant,p.Ser387Cys,ENST00000507910,;NEK11,3_prime_UTR_variant,,ENST00000514915,;NEK11,3_prime_UTR_variant,,ENST00000510474,;NEK11,non_coding_transcript_exon_variant,,ENST00000510823,;NEK11,non_coding_transcript_exon_variant,,ENST00000515636,;	1452	161	175	SUCCESS
PLSCR4	57088	.	GRCh37	3	145924525	145924525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770921090	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	102	0	ENST00000354952.2:c.142C>T	p.Pro48Ser	p.P48S	ENST00000354952	NM_020353.2	48	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS3133.1	142	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGAGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF28	.	.	ENSP00000347038	.	4/9	.	.	.	.	.	.	.	.	rs770921090	4/9	PASS	ENST00000354952	Transcript	.	.	ENSG00000114698	16497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.144)	.	tolerated(0.07)	.	PLS4_HUMAN	PLSCR4	HGNC	D3DNG6_HUMAN,C9J916_HUMAN,C9J6E1_HUMAN,C9J664_HUMAN,C9J3P9_HUMAN	.	UPI000004182E	SNV	PLSCR4,missense_variant,p.Pro33Ser,ENST00000433593,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000354952,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000476202,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000460350,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000498625,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000493382,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000446574,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000383083,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000481701,;PLSCR4,missense_variant,p.Pro48Ser,ENST00000460885,;PLSCR4,non_coding_transcript_exon_variant,,ENST00000475019,;	383	102	114	SUCCESS
ARHGEF26	26084	.	GRCh37	3	153842229	153842229	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	25	38	0	ENST00000356448.4:c.1114G>C	p.Asp372His	p.D372H	ENST00000356448	NM_001251962.1	372	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS46938.1	1114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGATGGG	NONE	.	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4	.	.	ENSP00000348828	.	3/15	.	.	.	.	.	.	.	.	COSM1420081,COSM1420082,COSM1420083	3/15	PASS	ENST00000356448	Transcript	.	.	ENSG00000114790	24490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.973)	.	deleterious(0)	1,1,1	ARHGQ_HUMAN	ARHGEF26	HGNC	.	.	UPI00001410D0	SNV	ARHGEF26,missense_variant,p.Asp372His,ENST00000465817,;ARHGEF26,missense_variant,p.Asp372His,ENST00000465093,;ARHGEF26,missense_variant,p.Asp372His,ENST00000356448,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000491862,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000467912,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000480639,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000479270,;ARHGEF26,missense_variant,p.Asp372His,ENST00000496710,;	1398	38	44	SUCCESS
TTC14	151613	.	GRCh37	3	180322340	180322340	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779502170	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	37	139	0	ENST00000296015.4:c.646C>A	p.Leu216Ile	p.L216I	ENST00000296015	NM_133462.3	216	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3237.1	646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCTATCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184,Superfamily_domains:SSF50249	.	.	ENSP00000296015	.	5/12	.	.	.	.	.	.	.	.	rs779502170	5/12	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	deleterious(0.03)	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,missense_variant,p.Leu216Ile,ENST00000382584,;TTC14,missense_variant,p.Leu116Ile,ENST00000492617,;TTC14,missense_variant,p.Leu216Ile,ENST00000296015,;TTC14,missense_variant,p.Leu216Ile,ENST00000412756,;TTC14,missense_variant,p.Leu116Ile,ENST00000495660,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000491380,;CCDC39,downstream_gene_variant,,ENST00000489868,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,missense_variant,p.Leu216Ile,ENST00000470669,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,3_prime_UTR_variant,,ENST00000462895,;	778	139	152	SUCCESS
MUC4	4585	.	GRCh37	3	195507956	195507956	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	29	173	0	ENST00000463781.3:c.10495A>T	p.Thr3499Ser	p.T3499S	ENST00000463781	NM_018406.6	3499	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS54700.1	10495	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTGGATG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.938)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Thr3499Ser,ENST00000463781,;MUC4,missense_variant,p.Thr3499Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Thr3499Ser,ENST00000470451,;MUC4,missense_variant,p.Thr3499Ser,ENST00000477086,;MUC4,missense_variant,p.Thr3499Ser,ENST00000466475,;MUC4,missense_variant,p.Thr3499Ser,ENST00000478156,;MUC4,missense_variant,p.Thr3499Ser,ENST00000479406,;MUC4,missense_variant,p.Thr3499Ser,ENST00000477756,;MUC4,missense_variant,p.Thr3499Ser,ENST00000462323,;MUC4,missense_variant,p.Thr3499Ser,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	10955	173	167	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	98	169	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	169	106	SUCCESS
IL17RD	54756	.	GRCh37	3	57135268	57135268	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	67	68	0	ENST00000296318.7:c.1103A>C	p.Gln368Pro	p.Q368P	ENST00000296318	NM_017563.3	368	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2880.2	1103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTGGCCA	NONE	.	.	PROSITE_profiles:PS51534,hmmpanther:PTHR15583:SF8,hmmpanther:PTHR15583,Pfam_domain:PF08357,Superfamily_domains:SSF52200	.	.	ENSP00000296318	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000296318	Transcript	.	.	ENSG00000144730	17616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.55)	.	I17RD_HUMAN	IL17RD	HGNC	C9J6R0_HUMAN	.	UPI0000047CC3	SNV	IL17RD,missense_variant,p.Gln224Pro,ENST00000463523,;IL17RD,missense_variant,p.Gln224Pro,ENST00000320057,;IL17RD,missense_variant,p.Gln344Pro,ENST00000427856,;IL17RD,missense_variant,p.Gln368Pro,ENST00000296318,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	1192	68	76	SUCCESS
OR5H14	403273	.	GRCh37	3	97868527	97868527	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	25	158	0	ENST00000437310.1:c.298C>A	p.Gln100Lys	p.Q100K	ENST00000437310	NM_001005514.1	100	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS33798.1	298	RADIA|MUTECT|MUSE|VARSCANS	.	AGATACAGTTG	BUFFER|p.S103L|c.308C>T|5	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	COSM731333	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.858)	.	deleterious(0.01)	1	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Gln100Lys,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	358	158	175	SUCCESS
INTU	27152	.	GRCh37	4	128628111	128628111	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	30	74	0	ENST00000335251.6:c.2258G>A	p.Gly753Glu	p.G753E	ENST00000335251	NM_015693.3	753	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34061.1	2258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGGGACCT	NONE	.	.	hmmpanther:PTHR21082	.	.	ENSP00000334003	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000335251	Transcript	.	.	ENSG00000164066	29239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	tolerated(0.07)	.	INTU_HUMAN	INTU	HGNC	B3KVS6_HUMAN	.	UPI00001C1E05	SNV	INTU,missense_variant,p.Gly753Glu,ENST00000335251,;INTU,downstream_gene_variant,,ENST00000506283,;INTU,downstream_gene_variant,,ENST00000512995,;INTU,missense_variant,p.Gly52Glu,ENST00000510766,;INTU,3_prime_UTR_variant,,ENST00000503952,;INTU,3_prime_UTR_variant,,ENST00000503626,;	2361	74	38	SUCCESS
SH3D19	152503	.	GRCh37	4	152080413	152080413	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	90	0	ENST00000304527.4:c.894T>A	p.Asn298Lys	p.N298K	ENST00000304527	NM_001009555.3	298	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS34077.2	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACATTACT	NONE	.	.	hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF127	.	.	ENSP00000302913	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000304527	Transcript	.	.	ENSG00000109686	30418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious(0.04)	.	SH319_HUMAN	SH3D19	HGNC	.	.	UPI0000251D9A	SNV	SH3D19,missense_variant,p.Asn262Lys,ENST00000424281,;SH3D19,missense_variant,p.Asn298Lys,ENST00000304527,;SH3D19,missense_variant,p.Asn298Lys,ENST00000455740,;SH3D19,missense_variant,p.Asn298Lys,ENST00000409598,;SH3D19,missense_variant,p.Asn298Lys,ENST00000409252,;SH3D19,missense_variant,p.Asn298Lys,ENST00000514152,;SH3D19,missense_variant,p.Asn262Lys,ENST00000427414,;SH3D19,non_coding_transcript_exon_variant,,ENST00000478503,;	1984	90	63	SUCCESS
POLN	353497	.	GRCh37	4	2209958	2209958	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	18	79	0	ENST00000382865.1:c.470A>C	p.Lys157Thr	p.K157T	ENST00000382865	NM_181808.2	157	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS3360.1	470	RADIA|MUTECT|MUSE|VARSCANS	.	TATGTTTTCTT	NONE	.	.	hmmpanther:PTHR10133,hmmpanther:PTHR10133:SF27	.	.	ENSP00000435506	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000511885	Transcript	.	.	ENSG00000130997	18870	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.553)	.	deleterious(0.02)	.	DPOLN_HUMAN	POLN	HGNC	.	.	UPI0000246FC3	SNV	POLN,missense_variant,p.Lys157Thr,ENST00000511885,;POLN,missense_variant,p.Lys157Thr,ENST00000382865,;POLN,non_coding_transcript_exon_variant,,ENST00000515357,;POLN,downstream_gene_variant,,ENST00000506518,;POLN,upstream_gene_variant,,ENST00000514858,;	824	79	133	SUCCESS
RGS12	6002	.	GRCh37	4	3427240	3427240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	32	120	0	ENST00000336727.3:c.3284A>G	p.Asp1095Gly	p.D1095G	ENST00000336727	NM_002926.3	1095	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3366.1	3284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGACGGAC	NONE	.	.	PROSITE_profiles:PS50898,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF149,Pfam_domain:PF02196,SMART_domains:SM00455,Superfamily_domains:SSF54236	.	.	ENSP00000339381	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000344733	Transcript	.	.	ENSG00000159788	9994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	RGS12_HUMAN	RGS12	HGNC	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN	.	UPI0000133830	SNV	RGS12,missense_variant,p.Asp437Gly,ENST00000538395,;RGS12,missense_variant,p.Asp1095Gly,ENST00000336727,;RGS12,missense_variant,p.Asp1095Gly,ENST00000382788,;RGS12,missense_variant,p.Asp493Gly,ENST00000306648,;RGS12,missense_variant,p.Asp1095Gly,ENST00000344733,;RGS12,missense_variant,p.Asp447Gly,ENST00000338806,;RGS12,non_coding_transcript_exon_variant,,ENST00000507246,;RGS12,non_coding_transcript_exon_variant,,ENST00000508158,;RGS12,non_coding_transcript_exon_variant,,ENST00000515521,;RGS12,upstream_gene_variant,,ENST00000509772,;RGS12,downstream_gene_variant,,ENST00000504559,;RGS12,downstream_gene_variant,,ENST00000511709,;RGS12,non_coding_transcript_exon_variant,,ENST00000504194,;RGS12,non_coding_transcript_exon_variant,,ENST00000513991,;RGS12,non_coding_transcript_exon_variant,,ENST00000507041,;RGS12,downstream_gene_variant,,ENST00000509746,;RGS12,downstream_gene_variant,,ENST00000510803,;	4188	120	138	SUCCESS
UCHL1	7345	.	GRCh37	4	41266155	41266155	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766696874	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	48	62	0	ENST00000284440.4:c.562A>T	p.Ser188Cys	p.S188C	ENST00000284440	NM_004181.4	188	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS3462.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCAGTTCA	NONE	.	.	hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF19,Pfam_domain:PF01088,Gene3D:3.40.532.10,Superfamily_domains:SSF54001	.	.	ENSP00000284440	.	8/9	.	.	.	.	.	.	.	.	rs766696874	8/9	PASS	ENST00000284440	Transcript	1	.	ENSG00000154277	12513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.04)	.	UCHL1_HUMAN	UCHL1	HGNC	D6RF53_HUMAN,A6NLJ7_HUMAN	.	UPI00001379CA	SNV	UCHL1,missense_variant,p.Ser188Cys,ENST00000512788,;UCHL1,missense_variant,p.Ser172Cys,ENST00000508768,;UCHL1,missense_variant,p.Ser188Cys,ENST00000503431,;UCHL1,missense_variant,p.Ser188Cys,ENST00000284440,;UCHL1,downstream_gene_variant,,ENST00000504818,;UCHL1,3_prime_UTR_variant,,ENST00000512419,;UCHL1,3_prime_UTR_variant,,ENST00000505232,;UCHL1,non_coding_transcript_exon_variant,,ENST00000514764,;UCHL1,non_coding_transcript_exon_variant,,ENST00000472501,;UCHL1,non_coding_transcript_exon_variant,,ENST00000381760,;UCHL1,non_coding_transcript_exon_variant,,ENST00000510566,;	706	62	88	SUCCESS
POLR2B	5431	.	GRCh37	4	57873096	57873096	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	328	102	246	0	ENST00000314595.5:c.1332A>T	p.Leu444=	p.L444=	ENST00000314595	NM_000938.1	444	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3511.1	1332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTAAAATA	NONE	.	.	Superfamily_domains:SSF64484,Pfam_domain:PF04563,Gene3D:2a6hC02,hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856	.	.	ENSP00000370625	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000381227	Transcript	.	.	ENSG00000047315	9188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPB2_HUMAN	POLR2B	HGNC	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN	.	UPI00001345D1	SNV	POLR2B,synonymous_variant,p.%3D,ENST00000441246,;POLR2B,synonymous_variant,p.%3D,ENST00000431623,;POLR2B,synonymous_variant,p.%3D,ENST00000381227,;POLR2B,synonymous_variant,p.%3D,ENST00000314595,;RNU6-998P,downstream_gene_variant,,ENST00000515894,;POLR2B,upstream_gene_variant,,ENST00000510355,;POLR2B,upstream_gene_variant,,ENST00000478188,;	1745	246	430	SUCCESS
LPHN3	0	.	GRCh37	4	62862048	62862048	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	45	121	0	ENST00000514591.1:c.3072T>C	p.Phe1024=	p.F1024=	ENST00000514591		1024	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS54768.1	3072	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTTATAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000422533	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,synonymous_variant,p.%3D,ENST00000507625,;LPHN3,synonymous_variant,p.%3D,ENST00000508946,;LPHN3,synonymous_variant,p.%3D,ENST00000506700,;LPHN3,synonymous_variant,p.%3D,ENST00000502815,;LPHN3,synonymous_variant,p.%3D,ENST00000509896,;LPHN3,synonymous_variant,p.%3D,ENST00000511324,;LPHN3,synonymous_variant,p.%3D,ENST00000545650,;LPHN3,synonymous_variant,p.%3D,ENST00000506720,;LPHN3,synonymous_variant,p.%3D,ENST00000504896,;LPHN3,synonymous_variant,p.%3D,ENST00000514591,;LPHN3,synonymous_variant,p.%3D,ENST00000508693,;LPHN3,synonymous_variant,p.%3D,ENST00000506746,;LPHN3,synonymous_variant,p.%3D,ENST00000514996,;LPHN3,synonymous_variant,p.%3D,ENST00000512091,;LPHN3,synonymous_variant,p.%3D,ENST00000514157,;LPHN3,synonymous_variant,p.%3D,ENST00000507164,;	3401	121	58	SUCCESS
CXCL6	6372	.	GRCh37	4	74702437	74702437	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	36	94	0	ENST00000226317.5:c.-31T>A		p.*11*	ENST00000226317	NM_002993.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3560.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCAGGA	NONE	.	.	.	.	.	ENSP00000226317	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000226317	Transcript	.	.	ENSG00000124875	10643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCL6_HUMAN	CXCL6	HGNC	.	.	UPI0000136772	SNV	CXCL6,5_prime_UTR_variant,,ENST00000515050,;CXCL6,5_prime_UTR_variant,,ENST00000226317,;CXCL6,upstream_gene_variant,,ENST00000503446,;	224	94	47	SUCCESS
PTPN13	5783	.	GRCh37	4	87692580	87692580	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764521104	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	76	209	0	ENST00000411767.2:c.5060T>A	p.Val1687Glu	p.V1687E	ENST00000411767		1687	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47093.1	5075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTATCAC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	31/48	.	.	.	.	.	.	.	.	rs764521104	31/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.09)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Val1687Glu,ENST00000411767,;PTPN13,missense_variant,p.Val1692Glu,ENST00000436978,;PTPN13,missense_variant,p.Val1496Glu,ENST00000316707,;PTPN13,missense_variant,p.Val1692Glu,ENST00000511467,;PTPN13,missense_variant,p.Val1668Glu,ENST00000427191,;PTPN13,downstream_gene_variant,,ENST00000511105,;	5555	209	92	SUCCESS
ADAMTS19	171019	.	GRCh37	5	128977564	128977564	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	83	0	ENST00000274487.4:c.1765A>T	p.Thr589Ser	p.T589S	ENST00000274487	NM_133638.3	589	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4146.1	1765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCACAGGA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,SMART_domains:SM00608	.	.	ENSP00000274487	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.39)	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,missense_variant,p.Thr589Ser,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;	1910	83	75	SUCCESS
CXXC5	51523	.	GRCh37	5	139060694	139060694	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772136553	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	68	0	ENST00000302517.3:c.586G>A	p.Val196Met	p.V196M	ENST00000302517	NM_016463.7	196	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS43370.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGTGGCA	NONE	byFrequency	.	hmmpanther:PTHR13419:SF2,hmmpanther:PTHR13419	.	.	ENSP00000302543	.	2/3	.	.	.	.	.	.	.	.	rs772136553,COSM3850532	2/3	PASS	ENST00000302517	Transcript	.	.	ENSG00000171604	26943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.862)	.	tolerated(0.21)	0,1	CXXC5_HUMAN	CXXC5	HGNC	E7EVI8_HUMAN,E7EV55_HUMAN,D6RIR8_HUMAN,D6RHG9_HUMAN,D6RHC6_HUMAN,D6RDY2_HUMAN,D6RCN9_HUMAN,D6RBE0_HUMAN,D6R9V1_HUMAN,D6R966_HUMAN	.	UPI000003779E	SNV	CXXC5,missense_variant,p.Val196Met,ENST00000511457,;CXXC5,missense_variant,p.Val196Met,ENST00000302517,;CXXC5,missense_variant,p.Val196Met,ENST00000511048,;CXXC5,downstream_gene_variant,,ENST00000512816,;CXXC5,downstream_gene_variant,,ENST00000509238,;CXXC5,downstream_gene_variant,,ENST00000503511,;CXXC5,downstream_gene_variant,,ENST00000504844,;CXXC5,downstream_gene_variant,,ENST00000504944,;CXXC5,downstream_gene_variant,,ENST00000507139,;CXXC5,downstream_gene_variant,,ENST00000511591,;CXXC5,downstream_gene_variant,,ENST00000502295,;CXXC5,downstream_gene_variant,,ENST00000502336,;CXXC5,downstream_gene_variant,,ENST00000520967,;CXXC5,downstream_gene_variant,,ENST00000502716,;CTB-35F21.1,upstream_gene_variant,,ENST00000515296,;CXXC5,non_coding_transcript_exon_variant,,ENST00000515038,;CXXC5,upstream_gene_variant,,ENST00000505812,;	1300	68	49	SUCCESS
PCDHB13	56123	.	GRCh37	5	140595369	140595369	+	synonymous_variant	Silent	SNP	G	G	A	rs781959563	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	24	0	ENST00000341948.4:c.1674G>A	p.Ser558=	p.S558=	ENST00000341948	NM_018933.2	558	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4255.1	1674	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AACTCGCCCTT	BUFFER|p.F560F|c.1680C>T|4	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	rs781959563,COSM377070	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,synonymous_variant,p.%3D,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	1861	24	24	SUCCESS
PCDHGB4	8641	.	GRCh37	5	140769755	140769755	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	107	0	ENST00000519479.1:c.2304T>A	p.Ser768Arg	p.S768R	ENST00000519479	NM_003736.2	768	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS54928.1	2304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGTGAGCA	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73	.	.	ENSP00000428288	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000519479	Transcript	.	.	ENSG00000253953	8711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.07)	.	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F773	SNV	PCDHGB4,missense_variant,p.Ser768Arg,ENST00000519479,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA8,upstream_gene_variant,,ENST00000398604,;	2304	107	101	SUCCESS
GRIA1	2890	.	GRCh37	5	153035418	153035418	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	63	0	ENST00000285900.5:c.685A>T	p.Ile229Phe	p.I229F	ENST00000285900	NM_000827.3	229	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS58987.1	715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACATTCTT	NONE	.	.	Superfamily_domains:SSF53822,Pfam_domain:PF01094,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.11)	.	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Ile149Phe,ENST00000518142,;GRIA1,missense_variant,p.Ile160Phe,ENST00000521843,;GRIA1,missense_variant,p.Ile229Phe,ENST00000285900,;GRIA1,missense_variant,p.Ile239Phe,ENST00000518783,;GRIA1,missense_variant,p.Ile239Phe,ENST00000448073,;GRIA1,missense_variant,p.Ile229Phe,ENST00000340592,;GRIA1,non_coding_transcript_exon_variant,,ENST00000520966,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	742	63	68	SUCCESS
TIMD4	91937	.	GRCh37	5	156381475	156381475	+	synonymous_variant	Silent	SNP	A	A	T	rs371298031	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	40	69	0	ENST00000274532.2:c.351T>A	p.Pro117=	p.P117=	ENST00000274532	NM_138379.2	117	ccT/ccA	0	C:0.0002	.	.	.	.	T	P	protein_coding	YES	CCDS4332.1	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCAGGCAC	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	C:0	ENSP00000274532	.	2/9	.	.	.	.	.	.	.	.	rs371298031	2/9	PASS	ENST00000274532	Transcript	.	.	ENSG00000145850	25132	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIMD4_HUMAN	TIMD4	HGNC	B5MCV9_HUMAN	.	UPI000013DA13	SNV	TIMD4,synonymous_variant,p.%3D,ENST00000274532,;TIMD4,synonymous_variant,p.%3D,ENST00000407087,;	408	69	61	SUCCESS
NIPAL4	348938	.	GRCh37	5	156899882	156899882	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	37	69	0	ENST00000311946.7:c.1315G>A	p.Asp439Asn	p.D439N	ENST00000311946	NM_001099287.1	439	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS47328.1	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGACAAG	NONE	.	.	hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF7	.	.	ENSP00000311687	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000311946	Transcript	1	.	ENSG00000172548	28018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.08)	.	NIPA4_HUMAN	NIPAL4	HGNC	.	.	UPI00001D7EEA	SNV	NIPAL4,missense_variant,p.Asp439Asn,ENST00000311946,;NIPAL4,missense_variant,p.Asp420Asn,ENST00000435489,;ADAM19,intron_variant,,ENST00000430702,;ADAM19,downstream_gene_variant,,ENST00000394020,;ADAM19,downstream_gene_variant,,ENST00000257527,;ADAM19,downstream_gene_variant,,ENST00000517374,;NIPAL4,downstream_gene_variant,,ENST00000521390,;NIPAL4,downstream_gene_variant,,ENST00000519946,;ADAM19,intron_variant,,ENST00000517951,;NIPAL4,downstream_gene_variant,,ENST00000519150,;	1431	69	57	SUCCESS
C5orf54	0	.	GRCh37	5	159821530	159821530	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs762734579	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	85	0	ENST00000408953.3:c.968G>C	p.Ser323Thr	p.S323T	ENST00000408953	NM_022090.3	323	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS34283.1	968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACACTATAT	NONE	.	.	Superfamily_domains:SSF53098,hmmpanther:PTHR11697:SF102,hmmpanther:PTHR11697	.	.	ENSP00000386184	.	2/2	.	.	.	.	.	.	.	.	rs762734579	2/2	PASS	ENST00000408953	Transcript	.	.	ENSG00000221886	30804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.43)	.	ZBED8_HUMAN	C5orf54	HGNC	.	.	UPI00000741A3	SNV	C5orf54,missense_variant,p.Ser323Thr,ENST00000408953,;C5orf54,missense_variant,p.Ser323Thr,ENST00000523213,;	1476	85	77	SUCCESS
CPEB4	80315	.	GRCh37	5	173316585	173316585	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	37	0	ENST00000265085.5:c.-152T>G		p.*51*	ENST00000265085	NM_030627.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4390.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATTTAAGG	NONE	.	.	.	.	.	ENSP00000265085	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000265085	Transcript	.	.	ENSG00000113742	21747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPEB4_HUMAN	CPEB4	HGNC	.	.	UPI000020C179	SNV	CPEB4,5_prime_UTR_variant,,ENST00000520867,;CPEB4,5_prime_UTR_variant,,ENST00000265085,;CPEB4,5_prime_UTR_variant,,ENST00000334035,;CPEB4,5_prime_UTR_variant,,ENST00000519835,;CPEB4,upstream_gene_variant,,ENST00000522336,;CPEB4,upstream_gene_variant,,ENST00000517880,;CPEB4,upstream_gene_variant,,ENST00000519152,;CPEB4,upstream_gene_variant,,ENST00000518141,;CPEB4,upstream_gene_variant,,ENST00000522344,;	1303	37	42	SUCCESS
FGFR4	2264	.	GRCh37	5	176520211	176520211	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	102	0	ENST00000292408.4:c.1130C>T	p.Ser377Phe	p.S377F	ENST00000292408	NM_213647.1	377	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS4410.1	1130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF312,PIRSF_domain:PIRSF000628	.	.	ENSP00000292408	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000292408	Transcript	.	.	ENSG00000160867	3691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	FGFR4_HUMAN	FGFR4	HGNC	G3JVM2_HUMAN,E7EWF4_HUMAN,D6RJD4_HUMAN,D6RG06_HUMAN,D6R9V0_HUMAN	.	UPI000012A72D	SNV	FGFR4,missense_variant,p.Ser377Phe,ENST00000502906,;FGFR4,missense_variant,p.Ser13Phe,ENST00000511076,;FGFR4,missense_variant,p.Ser377Phe,ENST00000292408,;FGFR4,intron_variant,,ENST00000393637,;FGFR4,intron_variant,,ENST00000292410,;FGFR4,intron_variant,,ENST00000393648,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,non_coding_transcript_exon_variant,,ENST00000508139,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000513423,;FGFR4,downstream_gene_variant,,ENST00000509511,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000426612,;	1375	103	74	SUCCESS
ZNF454	285676	.	GRCh37	5	178392529	178392529	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	97	0	ENST00000320129.3:c.1124A>T	p.Gln375Leu	p.Q375L	ENST00000320129	NM_182594.2	375	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4441.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCAGAGAA	BUFFER|p.R376I|c.1127G>T|4	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF221,PROSITE_profiles:PS50157	.	.	ENSP00000326249	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320129	Transcript	.	.	ENSG00000178187	21200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0.02)	.	ZN454_HUMAN	ZNF454	HGNC	.	.	UPI00001407C7	SNV	ZNF454,missense_variant,p.Gln375Leu,ENST00000519564,;ZNF454,missense_variant,p.Gln375Leu,ENST00000320129,;RP11-281O15.4,upstream_gene_variant,,ENST00000519491,;	1427	97	95	SUCCESS
IRX4	50805	.	GRCh37	5	1882077	1882077	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	54	71	0	ENST00000231357.2:c.142T>A	p.Tyr48Asn	p.Y48N	ENST00000231357	NM_016358.2	48	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS3867.1	142	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCAGTAGACCG	NONE	.	.	hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.946)	.	tolerated(0.21)	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,missense_variant,p.Tyr48Asn,ENST00000511126,;IRX4,missense_variant,p.Tyr48Asn,ENST00000231357,;IRX4,missense_variant,p.Tyr48Asn,ENST00000513692,;IRX4,missense_variant,p.Tyr48Asn,ENST00000505790,;CTD-2194D22.3,upstream_gene_variant,,ENST00000506335,;IRX4,upstream_gene_variant,,ENST00000505938,;IRX4,missense_variant,p.Tyr48Asn,ENST00000508261,;	599	71	81	SUCCESS
ERBB2IP	0	.	GRCh37	5	65322213	65322213	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	76	0	ENST00000284037.5:c.1104A>C	p.Gln368His	p.Q368H	ENST00000284037	NM_001253697.1	368	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS58952.1	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAAAAATT	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF421,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,SMART_domains:SM00364,Superfamily_domains:SSF52058	.	.	ENSP00000426632	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,missense_variant,p.Gln368His,ENST00000380935,;ERBB2IP,missense_variant,p.Gln368His,ENST00000511297,;ERBB2IP,missense_variant,p.Gln368His,ENST00000284037,;ERBB2IP,missense_variant,p.Gln368His,ENST00000508515,;ERBB2IP,missense_variant,p.Gln368His,ENST00000380943,;ERBB2IP,missense_variant,p.Gln368His,ENST00000380938,;ERBB2IP,missense_variant,p.Gln368His,ENST00000380936,;ERBB2IP,missense_variant,p.Gln368His,ENST00000506030,;ERBB2IP,missense_variant,p.Gln368His,ENST00000380939,;ERBB2IP,missense_variant,p.Gln368His,ENST00000416865,;ERBB2IP,downstream_gene_variant,,ENST00000515185,;ERBB2IP,downstream_gene_variant,,ENST00000507128,;	1195	76	80	SUCCESS
GPR98	0	.	GRCh37	5	90070014	90070014	+	synonymous_variant	Silent	SNP	G	G	A	rs767081312	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	60	0	ENST00000405460.2:c.12297G>A	p.Gln4099=	p.Q4099=	ENST00000405460	NM_032119.3	4099	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS47246.1	12297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGAAGAC	NONE	byFrequency	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	60/90	.	.	.	.	.	.	.	.	rs767081312	60/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;	12393	60	49	SUCCESS
HIVEP1	3096	.	GRCh37	6	12124094	12124094	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775971039	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	22	78	0	ENST00000379388.2:c.4066G>T	p.Val1356Phe	p.V1356F	ENST00000379388	NM_002114.2	1356	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS43426.1	4066	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGTTCCT	NONE	.	.	hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	rs775971039	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.846)	.	deleterious(0)	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,missense_variant,p.Val1356Phe,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	4398	78	147	SUCCESS
LAMA2	3908	.	GRCh37	6	129591828	129591828	+	synonymous_variant	Silent	SNP	C	C	T	rs147744763	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	113	189	0	ENST00000421865.2:c.2382C>T	p.Gly794=	p.G794=	ENST00000421865	NM_001079823.1	794	ggC/ggT	0	T:0.002	T:0.003	.	T:0.0014	.	T	G	protein_coding	YES	CCDS5138.1	2382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	TATGGCGAGCC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	T:0	T:0	ENSP00000400365	T:0	17/65	.	.	.	.	.	.	.	.	rs147744763	17/65	PASS	ENST00000421865	Transcript	.	T:0.0010	ENSG00000196569	6482	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	T:0	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,synonymous_variant,p.%3D,ENST00000421865,;	2431	189	137	SUCCESS
TCF21	6943	.	GRCh37	6	134210900	134210900	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	32	206	0	ENST00000237316.3:c.365G>A	p.Arg122Lys	p.R122K	ENST00000237316	NM_198392.2	122	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS5167.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGGCTGG	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF51,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000356857	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367882	Transcript	.	.	ENSG00000118526	11632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	TCF21_HUMAN	TCF21	HGNC	.	.	UPI0000001290	SNV	TCF21,missense_variant,p.Arg122Lys,ENST00000237316,;TCF21,missense_variant,p.Arg122Lys,ENST00000367882,;RP3-323P13.2,intron_variant,,ENST00000607573,;RP3-323P13.2,upstream_gene_variant,,ENST00000607641,;RP3-323P13.2,upstream_gene_variant,,ENST00000607033,;RP3-323P13.2,upstream_gene_variant,,ENST00000606544,;	625	206	144	SUCCESS
BCLAF1	9774	.	GRCh37	6	136597179	136597179	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	106	0	ENST00000531224.1:c.1484A>T	p.Gln495Leu	p.Q495L	ENST00000531224	NM_001077441.1	495	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5177.1	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACTGAGTT	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	.	.	ENSP00000435210	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.7)	.	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Gln495Leu,ENST00000529826,;BCLAF1,missense_variant,p.Gln495Leu,ENST00000527536,;BCLAF1,missense_variant,p.Gln493Leu,ENST00000392348,;BCLAF1,missense_variant,p.Gln495Leu,ENST00000531224,;BCLAF1,missense_variant,p.Gln493Leu,ENST00000353331,;BCLAF1,missense_variant,p.Gln493Leu,ENST00000527759,;BCLAF1,intron_variant,,ENST00000530767,;BCLAF1,missense_variant,p.Gln495Leu,ENST00000527613,;BCLAF1,missense_variant,p.Gln493Leu,ENST00000530429,;BCLAF1,missense_variant,p.Gln495Leu,ENST00000532384,;BCLAF1,intron_variant,,ENST00000533621,;BCLAF1,intron_variant,,ENST00000534269,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	1737	106	126	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151151983	151151983	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	49	94	0	ENST00000358517.2:c.1736A>G	p.Asp579Gly	p.D579G	ENST00000358517		579	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS34552.1	1736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGATAGCA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF90	.	.	ENSP00000356297	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000367328	Transcript	.	.	ENSG00000120278	20884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	tolerated(0.14)	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	SNV	PLEKHG1,missense_variant,p.Asp579Gly,ENST00000367328,;PLEKHG1,missense_variant,p.Asp579Gly,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;PDCL3P5,downstream_gene_variant,,ENST00000398028,;	2048	94	58	SUCCESS
MRPL18	29074	.	GRCh37	6	160211594	160211594	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs1195146383	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	58	75	0	ENST00000367034.4:c.-26G>T		p.*9*	ENST00000367034	NM_014161.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5270.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGAGGCT	NONE	.	.	.	.	.	ENSP00000356001	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000367034	Transcript	.	.	ENSG00000112110	14477	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM18_HUMAN	MRPL18	HGNC	.	.	UPI0000037B54	SNV	MRPL18,5_prime_UTR_variant,,ENST00000367034,;TCP1,upstream_gene_variant,,ENST00000392168,;TCP1,upstream_gene_variant,,ENST00000536394,;TCP1,upstream_gene_variant,,ENST00000544255,;TCP1,upstream_gene_variant,,ENST00000539948,;TCP1,upstream_gene_variant,,ENST00000321394,;TCP1,upstream_gene_variant,,ENST00000538128,;TCP1,upstream_gene_variant,,ENST00000537390,;TCP1,upstream_gene_variant,,ENST00000539756,;TCP1,upstream_gene_variant,,ENST00000420894,;SNORA29,upstream_gene_variant,,ENST00000384183,;MRPL18,non_coding_transcript_exon_variant,,ENST00000480842,;MRPL18,intron_variant,,ENST00000476826,;MRPL18,intron_variant,,ENST00000479638,;TCP1,upstream_gene_variant,,ENST00000543532,;TCP1,upstream_gene_variant,,ENST00000546023,;TCP1,upstream_gene_variant,,ENST00000538530,;TCP1,upstream_gene_variant,,ENST00000467544,;TCP1,upstream_gene_variant,,ENST00000536607,;TCP1,upstream_gene_variant,,ENST00000545764,;TCP1,upstream_gene_variant,,ENST00000543517,;	97	75	61	SUCCESS
TTLL2	83887	.	GRCh37	6	167754699	167754699	+	synonymous_variant	Silent	SNP	C	C	A	rs201555411	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	53	63	0	ENST00000239587.5:c.1311C>A	p.Ile437=	p.I437=	ENST00000239587	NM_031949.4	437	atC/atA	0	.	T:0.0008	.	T:0	.	A	I	protein_coding	YES	CCDS5301.1	1311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATCGACGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90	T:0	.	ENSP00000239587	T:0	3/3	.	.	.	.	.	.	.	.	rs201555411,COSM1075989	3/3	PASS	ENST00000239587	Transcript	.	T:0.0002	ENSG00000120440	21211	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	TTLL2_HUMAN	TTLL2	HGNC	.	.	UPI00001A3A8B	SNV	TTLL2,synonymous_variant,p.%3D,ENST00000239587,;TTLL2,synonymous_variant,p.%3D,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	1399	63	54	SUCCESS
PHF10	55274	.	GRCh37	6	170112536	170112536	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	138	238	0	ENST00000339209.4:c.903A>T	p.Ser301=	p.S301=	ENST00000339209	NM_133325.2	301	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5308.2	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTGAATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10615	.	.	ENSP00000341805	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000339209	Transcript	.	.	ENSG00000130024	18250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF10_HUMAN	PHF10	HGNC	S5FMB0_HUMAN	.	UPI0000EE1F6E	SNV	PHF10,synonymous_variant,p.%3D,ENST00000366780,;PHF10,synonymous_variant,p.%3D,ENST00000339209,;PHF10,non_coding_transcript_exon_variant,,ENST00000480008,;	1027	238	160	SUCCESS
POM121L2	94026	.	GRCh37	6	27279067	27279067	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	60	85	0	ENST00000444565.1:c.883C>A	p.Pro295Thr	p.P295T	ENST00000444565	NM_033482.3	295	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS59497.1	883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGCCGAT	NONE	.	.	Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	.	.	ENSP00000392726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444565	Transcript	.	.	ENSG00000158553	13973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.46)	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,missense_variant,p.Pro295Thr,ENST00000444565,;POM121L2,missense_variant,p.Pro9Thr,ENST00000429945,;POM121L2,missense_variant,p.Pro295Thr,ENST00000377451,;	883	85	112	SUCCESS
OR12D3	81797	.	GRCh37	6	29342331	29342331	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	15	121	0	ENST00000396806.3:c.734T>C	p.Met245Thr	p.M245T	ENST00000396806	NM_030959.2	245	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS4658.1	734	MUTECT|MUSE|VARSCANS	.	CCACCATAAAA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF193,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000380023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000396806	Transcript	.	.	ENSG00000112462	13963	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(1)	.	O12D3_HUMAN	OR12D3	HGNC	D2XT27_HUMAN	.	UPI000000DCA9	SNV	OR12D3,missense_variant,p.Met245Thr,ENST00000396806,;OR5V1,intron_variant,,ENST00000377154,;	738	121	156	SUCCESS
DHX16	8449	.	GRCh37	6	30621047	30621048	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	77	72	97	0	ENST00000376442.3:c.3097dup	p.Ile1033AsnfsTer34	p.I1033Nfs*34	ENST00000376442	NM_001164239.1	1033	ata/aAta	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS4685.1	3097-3098	INDELOCATOR|VARSCANI	.	TGCCTATTTTT	CODON|p.I1033fs*1|c.3097delA|6,CODON|p.I1033fs*1|c.3097delA|6	.	.	hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934	.	.	ENSP00000365625	.	20/20	.	.	.	.	.	.	.	.	COSM304195	20/20	PASS	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	insertion	DHX16,frameshift_variant,p.Ile552AsnfsTer34,ENST00000376437,;DHX16,frameshift_variant,p.Ile1033AsnfsTer34,ENST00000376442,;C6orf136,downstream_gene_variant,,ENST00000467801,;C6orf136,downstream_gene_variant,,ENST00000528347,;C6orf136,downstream_gene_variant,,ENST00000376473,;C6orf136,downstream_gene_variant,,ENST00000465699,;C6orf136,downstream_gene_variant,,ENST00000376471,;C6orf136,downstream_gene_variant,,ENST00000293604,;C6orf136,downstream_gene_variant,,ENST00000446773,;C6orf136,downstream_gene_variant,,ENST00000468785,;AL662800.2,downstream_gene_variant,,ENST00000583820,;C6orf136,downstream_gene_variant,,ENST00000493705,;C6orf136,downstream_gene_variant,,ENST00000463794,;C6orf136,downstream_gene_variant,,ENST00000460172,;C6orf136,downstream_gene_variant,,ENST00000484551,;C6orf136,downstream_gene_variant,,ENST00000487873,;C6orf136,downstream_gene_variant,,ENST00000488383,;	3293-3294	97	150	SUCCESS
DPCR1	0	.	GRCh37	6	30918786	30918786	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	44	0	ENST00000462446.1:c.2545G>T	p.Ala849Ser	p.A849S	ENST00000462446		849	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4692.2	2545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGCCAAT	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.6)	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,missense_variant,p.Ala849Ser,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	2573	44	89	SUCCESS
LRFN2	57497	.	GRCh37	6	40400714	40400714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	59	84	0	ENST00000338305.6:c.139C>A	p.Pro47Thr	p.P47T	ENST00000338305	NM_020737.1	47	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS34443.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGTACAA	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	.	ENSP00000345985	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Pro47Thr,ENST00000338305,;	682	84	139	SUCCESS
TREML1	340205	.	GRCh37	6	41121500	41121500	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	18	82	0	ENST00000426005.2:c.372C>T	p.Pro124=	p.P124=	ENST00000426005	NM_178174.3	124	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4851.1	372	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGGCAG	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR11860:SF35,hmmpanther:PTHR11860	.	.	ENSP00000402855	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000426005	Transcript	.	.	ENSG00000161911	20434	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRML1_HUMAN	TREML1	HGNC	.	.	UPI0000074451	SNV	TREML1,synonymous_variant,p.%3D,ENST00000373127,;TREML1,synonymous_variant,p.%3D,ENST00000426005,;TREML1,intron_variant,,ENST00000437044,;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,;TREM2,downstream_gene_variant,,ENST00000373113,;TREML1,upstream_gene_variant,,ENST00000590581,;	416	82	141	SUCCESS
CAPN11	11131	.	GRCh37	6	44149032	44149032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	47	56	0	ENST00000398776.1:c.1913T>A	p.Leu638Gln	p.L638Q	ENST00000398776	NM_007058.3	638	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS47436.1	1913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCTGTGGA	NONE	.	.	hmmpanther:PTHR10183:SF269,hmmpanther:PTHR10183,Pfam_domain:PF13833,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000381758	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000398776	Transcript	.	.	ENSG00000137225	1478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CAN11_HUMAN	CAPN11	HGNC	.	.	UPI00000383D5	SNV	CAPN11,missense_variant,p.Leu638Gln,ENST00000398776,;CAPN11,missense_variant,p.Leu638Gln,ENST00000542245,;CAPN11,non_coding_transcript_exon_variant,,ENST00000533604,;CAPN11,non_coding_transcript_exon_variant,,ENST00000524554,;	1951	56	86	SUCCESS
GSTA4	2941	.	GRCh37	6	52849299	52849299	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs774850093	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	61	66	0	ENST00000370959.1:c.377A>T	p.Gln126Leu	p.Q126L	ENST00000370959		126	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4948.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTGGGCC	NONE	.	.	Superfamily_domains:SSF47616,Pfam_domain:PF00043,Gene3D:1.20.1050.10,hmmpanther:PTHR11571:SF123,hmmpanther:PTHR11571,PROSITE_profiles:PS50405	.	.	ENSP00000360002	.	5/7	.	.	.	.	.	.	.	.	rs774850093	5/7	PASS	ENST00000370963	Transcript	.	.	ENSG00000170899	4629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.195)	.	deleterious(0.02)	.	GSTA4_HUMAN	GSTA4	HGNC	Q6P4G1_HUMAN,Q5JW88_HUMAN,B3KNR3_HUMAN	.	UPI00001119FD	SNV	GSTA4,missense_variant,p.Gln33Leu,ENST00000370960,;GSTA4,missense_variant,p.Gln33Leu,ENST00000457564,;GSTA4,missense_variant,p.Gln33Leu,ENST00000541324,;GSTA4,missense_variant,p.Gln126Leu,ENST00000370963,;GSTA4,missense_variant,p.Gln126Leu,ENST00000370959,;GSTA4,non_coding_transcript_exon_variant,,ENST00000477599,;GSTA4,non_coding_transcript_exon_variant,,ENST00000486559,;	525	66	146	SUCCESS
KHDRBS2	202559	.	GRCh37	6	62407112	62407112	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	50	0	ENST00000281156.4:c.940T>A	p.Tyr314Asn	p.Y314N	ENST00000281156	NM_152688.2	314	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS4963.1	940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATAGGCAT	NONE	.	.	hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34	.	.	ENSP00000281156	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000281156	Transcript	.	.	ENSG00000112232	18114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KHDR2_HUMAN	KHDRBS2	HGNC	.	.	UPI000004D256	SNV	KHDRBS2,missense_variant,p.Tyr314Asn,ENST00000281156,;	1219	50	86	SUCCESS
DDX43	55510	.	GRCh37	6	74118988	74118988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	85	0	ENST00000370336.4:c.1197C>A	p.Asp399Glu	p.D399E	ENST00000370336	NM_018665.2	399	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4977.1	1197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACAAGAT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_patterns:PS00039,hmmpanther:PTHR24031:SF225,hmmpanther:PTHR24031,PROSITE_profiles:PS51192	.	.	ENSP00000359361	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000370336	Transcript	.	.	ENSG00000080007	18677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious(0.02)	.	DDX43_HUMAN	DDX43	HGNC	.	.	UPI000013CA60	SNV	DDX43,missense_variant,p.Asp399Glu,ENST00000370336,;MB21D1,downstream_gene_variant,,ENST00000370318,;DDX43,downstream_gene_variant,,ENST00000539829,;DDX43,non_coding_transcript_exon_variant,,ENST00000479773,;	1355	85	72	SUCCESS
COL12A1	1303	.	GRCh37	6	75887629	75887629	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	32	36	0	ENST00000322507.8:c.2187A>T	p.Leu729=	p.L729=	ENST00000322507	NM_004370.5	729	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43482.1	2187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTTAGGTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	12/66	.	.	.	.	.	.	.	.	.	12/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;	2497	36	35	SUCCESS
SNAP91	9892	.	GRCh37	6	84417640	84417640	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	37	21	0	ENST00000369694.2:c.7G>T	p.Gly3Cys	p.G3C	ENST00000369694	NM_001242792.1	3	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS47455.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCCGACA	NONE	.	.	hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	2/30	.	.	.	.	.	.	.	.	COSM1547360,COSM1547359	2/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious(0)	1,1	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,missense_variant,p.Gly3Cys,ENST00000519779,;SNAP91,missense_variant,p.Gly3Cys,ENST00000521931,;SNAP91,missense_variant,p.Gly3Cys,ENST00000521485,;SNAP91,missense_variant,p.Gly3Cys,ENST00000428679,;SNAP91,missense_variant,p.Gly3Cys,ENST00000519825,;SNAP91,missense_variant,p.Gly3Cys,ENST00000195649,;SNAP91,missense_variant,p.Gly3Cys,ENST00000439399,;SNAP91,missense_variant,p.Gly3Cys,ENST00000369690,;SNAP91,missense_variant,p.Gly3Cys,ENST00000437520,;SNAP91,missense_variant,p.Gly3Cys,ENST00000518309,;SNAP91,missense_variant,p.Gly3Cys,ENST00000523484,;SNAP91,missense_variant,p.Gly3Cys,ENST00000520302,;SNAP91,missense_variant,p.Gly3Cys,ENST00000369694,;SNAP91,missense_variant,p.Gly3Cys,ENST00000520213,;SNAP91,missense_variant,p.Gly3Cys,ENST00000521743,;SNAP91,missense_variant,p.Gly3Cys,ENST00000523585,;SNAP91,missense_variant,p.Gly3Cys,ENST00000523199,;SNAP91,missense_variant,p.Gly3Cys,ENST00000521616,;SNAP91,missense_variant,p.Gly3Cys,ENST00000518312,;SNAP91,missense_variant,p.Gly3Cys,ENST00000522248,;	324	21	38	SUCCESS
CNR1	1268	.	GRCh37	6	88854869	88854869	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1402515300	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	83	81	0	ENST00000369499.2:c.125G>A	p.Gly42Glu	p.G42E	ENST00000369499		42	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS5015.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCCTAAT	BUFFER|p.S39P|c.115T>C|3	.	.	PIRSF_domain:PIRSF037995,Prints_domain:PR00522	.	.	ENSP00000441046	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537554	Transcript	.	.	ENSG00000118432	2159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious_low_confidence(0.03)	.	CNR1_HUMAN	CNR1	HGNC	S5TLS4_HUMAN,Q9BYY6_HUMAN,F8W187_HUMAN	.	UPI00000008AA	SNV	CNR1,missense_variant,p.Gly42Glu,ENST00000369499,;CNR1,missense_variant,p.Gly42Glu,ENST00000551417,;CNR1,missense_variant,p.Gly42Glu,ENST00000428600,;CNR1,missense_variant,p.Gly42Glu,ENST00000535130,;CNR1,missense_variant,p.Gly42Glu,ENST00000369501,;CNR1,missense_variant,p.Gly42Glu,ENST00000537554,;CNR1,missense_variant,p.Gly42Glu,ENST00000549890,;CNR1,intron_variant,,ENST00000549716,;CNR1,intron_variant,,ENST00000468898,;CNR1,intron_variant,,ENST00000362094,;	3688	81	94	SUCCESS
MUC17	140453	.	GRCh37	7	100676441	100676441	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	71	0	ENST00000306151.4:c.1744G>A	p.Val582Met	p.V582M	ENST00000306151	NM_001040105.1	582	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS34711.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGTGGTC	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Val582Met,ENST00000306151,;MUC17,missense_variant,p.Val582Met,ENST00000379439,;	1808	71	64	SUCCESS
MUC17	140453	.	GRCh37	7	100684989	100684989	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs190089107	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	44	91	0	ENST00000306151.4:c.10292C>T	p.Thr3431Ile	p.T3431I	ENST00000306151	NM_001040105.1	3431	aCc/aTc	0	.	G:0	.	G:0	.	T	T/I	protein_coding	YES	CCDS34711.1	10292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACCACTT	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000302716	G:0.001	3/13	.	.	.	.	.	.	.	.	rs190089107	3/13	PASS	ENST00000306151	Transcript	.	G:0.0002	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	G:0	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Thr3431Ile,ENST00000306151,;MUC17,missense_variant,p.Thr3431Ile,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	10356	91	94	SUCCESS
PHF14	9678	.	GRCh37	7	11030469	11030469	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	46	93	0	ENST00000403050.3:c.1040A>G	p.His347Arg	p.H347R	ENST00000403050	NM_014660.3	347	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS47542.1	1040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCATGAAG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR13793:SF10,hmmpanther:PTHR13793,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000385795	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000403050	Transcript	.	.	ENSG00000106443	22203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.778)	.	deleterious(0)	.	PHF14_HUMAN	PHF14	HGNC	.	.	UPI000020EB41	SNV	PHF14,missense_variant,p.His62Arg,ENST00000445996,;PHF14,missense_variant,p.His347Arg,ENST00000403050,;PHF14,non_coding_transcript_exon_variant,,ENST00000476009,;PHF14,3_prime_UTR_variant,,ENST00000521747,;PHF14,3_prime_UTR_variant,,ENST00000423760,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;	1492	93	114	SUCCESS
RBM28	55131	.	GRCh37	7	127978350	127978350	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	40	99	0	ENST00000223073.2:c.495A>C	p.Leu165=	p.L165=	ENST00000223073	NM_018077.2	165	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5801.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTAGGAG	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR24622:SF163,hmmpanther:PTHR24622,PROSITE_profiles:PS50102	.	.	ENSP00000223073	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000223073	Transcript	.	.	ENSG00000106344	21863	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM28_HUMAN	RBM28	HGNC	.	.	UPI000006FFF1	SNV	RBM28,synonymous_variant,p.%3D,ENST00000459726,;RBM28,synonymous_variant,p.%3D,ENST00000223073,;RBM28,intron_variant,,ENST00000478061,;RBM28,intron_variant,,ENST00000415472,;RBM28,upstream_gene_variant,,ENST00000488249,;RBM28,upstream_gene_variant,,ENST00000487602,;	610	99	95	SUCCESS
CPA4	51200	.	GRCh37	7	129951962	129951962	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	54	0	ENST00000222482.4:c.1078T>A	p.Tyr360Asn	p.Y360N	ENST00000222482	NM_016352.3	360	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS5818.1	1078	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTGTAAG	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF52,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000222482	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000222482	Transcript	.	.	ENSG00000128510	15740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	CBPA4_HUMAN	CPA4	HGNC	C9J7D6_HUMAN,B7Z5J4_HUMAN,A4D1M3_HUMAN	.	UPI0000048F00	SNV	CPA4,missense_variant,p.Tyr327Asn,ENST00000445470,;CPA4,missense_variant,p.Tyr360Asn,ENST00000222482,;CPA4,missense_variant,p.Tyr256Asn,ENST00000493259,;CPA4,non_coding_transcript_exon_variant,,ENST00000488025,;	1106	54	48	SUCCESS
HIPK2	28996	.	GRCh37	7	139416674	139416674	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs907544638	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	59	119	0	ENST00000406875.3:c.160A>T	p.Ser54Cys	p.S54C	ENST00000406875	NM_022740.4	54	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	.	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCTCTGGC	NONE	.	.	hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058	.	.	ENSP00000385571	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.246)	.	deleterious(0.01)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Ser54Cys,ENST00000342645,;HIPK2,missense_variant,p.Ser54Cys,ENST00000428878,;HIPK2,missense_variant,p.Ser54Cys,ENST00000406875,;	255	119	111	SUCCESS
HIPK2	28996	.	GRCh37	7	139416675	139416675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	59	119	0	ENST00000406875.3:c.159G>T	p.Gln53His	p.Q53H	ENST00000406875	NM_022740.4	53	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	.	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTCTGGCT	NONE	.	.	hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058	.	.	ENSP00000385571	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.91)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Gln53His,ENST00000342645,;HIPK2,missense_variant,p.Gln53His,ENST00000428878,;HIPK2,missense_variant,p.Gln53His,ENST00000406875,;	254	119	113	SUCCESS
MRPS33	51650	.	GRCh37	7	140710338	140710338	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	52	154	0	ENST00000324787.5:c.96A>G	p.Lys32=	p.K32=	ENST00000324787	NM_053035.2	32	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS5864.1	96	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTTTCAT	NONE	.	.	hmmpanther:PTHR13362,hmmpanther:PTHR13362:SF2,Pfam_domain:PF08293	.	.	ENSP00000376732	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000393008	Transcript	.	.	ENSG00000090263	16634	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT33_HUMAN	MRPS33	HGNC	A4D1T3_HUMAN,C9JBY7_HUMAN	.	UPI00001352B2	SNV	MRPS33,synonymous_variant,p.%3D,ENST00000496958,;MRPS33,synonymous_variant,p.%3D,ENST00000324787,;MRPS33,synonymous_variant,p.%3D,ENST00000467334,;MRPS33,synonymous_variant,p.%3D,ENST00000469351,;MRPS33,synonymous_variant,p.%3D,ENST00000393008,;MRPS33,intron_variant,,ENST00000484502,;MRPS33,upstream_gene_variant,,ENST00000472343,;MRPS33,non_coding_transcript_exon_variant,,ENST00000485202,;MRPS33,non_coding_transcript_exon_variant,,ENST00000496641,;	252	154	142	SUCCESS
OR2A1	346528	.	GRCh37	7	144015352	144015352	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	130	0	ENST00000408951.1:c.135G>A	p.Leu45=	p.L45=	ENST00000408951	NM_001005287.1	45	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43673.1	135	RADIA|VARSCANS	.	ATCCTGGGGCT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF137,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000386175	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408951	Transcript	.	.	ENSG00000221970	8229	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2A1_HUMAN	OR2A1	HGNC	H9XFB2_HUMAN,H9XFB1_HUMAN,H9XFB0_HUMAN,H9XFA9_HUMAN	.	UPI0000041DF3	SNV	OR2A1,synonymous_variant,p.%3D,ENST00000408951,;OR2A1-AS1,intron_variant,,ENST00000486094,;OR2A1-AS1,intron_variant,,ENST00000493539,;OR2A1-AS1,intron_variant,,ENST00000496968,;OR2A1-AS1,intron_variant,,ENST00000475089,;OR2A1-AS1,intron_variant,,ENST00000478806,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000467944,;OR2A1-AS1,intron_variant,,ENST00000488041,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,downstream_gene_variant,,ENST00000478925,;	135	130	111	SUCCESS
CNPY1	285888	.	GRCh37	7	155301641	155301641	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	43	116	0	ENST00000321736.5:c.92A>T	p.Glu31Val	p.E31V	ENST00000321736	NM_001103176.1	31	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS43684.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATTCTTGG	NONE	.	.	Pfam_domain:PF11938,hmmpanther:PTHR13341,hmmpanther:PTHR13341:SF4	.	.	ENSP00000317439	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000321736	Transcript	.	.	ENSG00000146910	27786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	CNPY1_HUMAN	CNPY1	HGNC	.	.	UPI00001B64BC	SNV	CNPY1,missense_variant,p.Glu31Val,ENST00000321736,;CNPY1,missense_variant,p.Glu31Val,ENST00000406197,;AC008060.5,upstream_gene_variant,,ENST00000415333,;	255	116	103	SUCCESS
MNX1	3110	.	GRCh37	7	156802352	156802352	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	64	0	ENST00000252971.6:c.691+2T>A		p.X231_splice	ENST00000252971	NM_005515.3	231		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34788.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCACAGTT	NONE	.	.	.	.	.	ENSP00000252971	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000252971	Transcript	.	.	ENSG00000130675	4979	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MNX1_HUMAN	MNX1	HGNC	.	.	UPI000020E726	SNV	MNX1,splice_donor_variant,,ENST00000252971,;MNX1,splice_donor_variant,,ENST00000479817,;MNX1,upstream_gene_variant,,ENST00000428439,;MNX1,upstream_gene_variant,,ENST00000469500,;MNX1,upstream_gene_variant,,ENST00000543409,;MNX1,upstream_gene_variant,,ENST00000425745,;MNX1-AS1,upstream_gene_variant,,ENST00000480284,;MNX1-AS2,downstream_gene_variant,,ENST00000429228,;MNX1,upstream_gene_variant,,ENST00000605400,;MNX1,upstream_gene_variant,,ENST00000474448,;	.	64	50	SUCCESS
FTSJ2	0	.	GRCh37	7	2279075	2279075	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	35	0	ENST00000242257.8:c.276G>C	p.Gln92His	p.Q92H	ENST00000242257	NM_013393.1	92	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS5328.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCTGCAC	NONE	.	.	HAMAP:MF_01547,hmmpanther:PTHR10920,Pfam_domain:PF01728,Gene3D:3.40.50.150,PIRSF_domain:PIRSF005461,Superfamily_domains:SSF53335	.	.	ENSP00000242257	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000242257	Transcript	.	.	ENSG00000122687	16352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.09)	.	RRMJ2_HUMAN	FTSJ2	HGNC	Q68D18_HUMAN	.	UPI00000373C0	SNV	FTSJ2,missense_variant,p.Gln92His,ENST00000440306,;FTSJ2,missense_variant,p.Gln92His,ENST00000242257,;NUDT1,upstream_gene_variant,,ENST00000397046,;FTSJ2,upstream_gene_variant,,ENST00000407040,;NUDT1,upstream_gene_variant,,ENST00000343985,;NUDT1,upstream_gene_variant,,ENST00000454650,;NUDT1,upstream_gene_variant,,ENST00000339737,;NUDT1,upstream_gene_variant,,ENST00000397048,;NUDT1,upstream_gene_variant,,ENST00000397049,;NUDT1,upstream_gene_variant,,ENST00000356714,;FTSJ2,non_coding_transcript_exon_variant,,ENST00000486040,;FTSJ2,non_coding_transcript_exon_variant,,ENST00000467199,;	305	35	35	SUCCESS
IGF2BP3	10643	.	GRCh37	7	23391021	23391021	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	62	0	ENST00000258729.3:c.586T>A	p.Leu196Met	p.L196M	ENST00000258729	NM_006547.2	196	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5382.1	586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAAATCAC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000258729	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000258729	Transcript	.	.	ENSG00000136231	28868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.02)	.	IF2B3_HUMAN	IGF2BP3	HGNC	.	.	UPI0000117172	SNV	IGF2BP3,missense_variant,p.Leu196Met,ENST00000258729,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000466809,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000492771,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468263,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000491719,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000479504,;IGF2BP3,upstream_gene_variant,,ENST00000497563,;IGF2BP3,downstream_gene_variant,,ENST00000474105,;IGF2BP3,downstream_gene_variant,,ENST00000465058,;IGF2BP3,downstream_gene_variant,,ENST00000469723,;IGF2BP3,3_prime_UTR_variant,,ENST00000421467,;IGF2BP3,upstream_gene_variant,,ENST00000467592,;IGF2BP3,upstream_gene_variant,,ENST00000480547,;	943	62	65	SUCCESS
AVL9	23080	.	GRCh37	7	32599056	32599056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	31	120	0	ENST00000318709.4:c.1195C>A	p.Pro399Thr	p.P399T	ENST00000318709	NM_015060.1	399	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34613.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCCCCTG	NONE	.	.	Pfam_domain:PF09794,hmmpanther:PTHR31017:SF1,hmmpanther:PTHR31017	.	.	ENSP00000315568	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000318709	Transcript	.	.	ENSG00000105778	28994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	AVL9_HUMAN	AVL9	HGNC	.	.	UPI0000049D97	SNV	AVL9,missense_variant,p.Pro399Thr,ENST00000318709,;AVL9,missense_variant,p.Pro399Thr,ENST00000404479,;AVL9,missense_variant,p.Pro330Thr,ENST00000446718,;AVL9,missense_variant,p.Pro399Thr,ENST00000409301,;	1416	120	121	SUCCESS
DPY19L2P1	554236	.	GRCh37	7	35129977	35129977	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	327	265	550	0	ENST00000436258.1:n.3393T>A		p.*1131*	ENST00000436258				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCACATGT	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000436258	Transcript	.	.	ENSG00000189212	22305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPY19L2P1	HGNC	.	.	.	SNV	DPY19L2P1,non_coding_transcript_exon_variant,,ENST00000458672,;DPY19L2P1,non_coding_transcript_exon_variant,,ENST00000436258,;DPY19L2P1,non_coding_transcript_exon_variant,,ENST00000454445,;	3393	550	592	SUCCESS
GLI3	2737	.	GRCh37	7	42007259	42007259	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	62	129	0	ENST00000395925.3:c.2366T>A	p.Met789Lys	p.M789K	ENST00000395925	NM_000168.5	789	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS5465.1	2366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACATTCCA	BUFFER|p.R792*|c.2374C>T|3	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.36)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Met789Lys,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,downstream_gene_variant,,ENST00000464291,;	2451	129	136	SUCCESS
HECW1	23072	.	GRCh37	7	43484963	43484963	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	88	0	ENST00000395891.2:c.2192C>A	p.Thr731Lys	p.T731K	ENST00000395891	NM_015052.3	731	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS5469.2	2192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACGGTCT	NONE	.	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.02)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Thr731Lys,ENST00000453890,;HECW1,missense_variant,p.Thr731Lys,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2797	88	59	SUCCESS
ABCA13	154664	.	GRCh37	7	48278844	48278844	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	49	0	ENST00000435803.1:c.904A>T	p.Thr302Ser	p.T302S	ENST00000435803	NM_152701.3	302	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS47584.1	904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCACAGAC	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	9/62	.	.	.	.	.	.	.	.	.	9/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Thr302Ser,ENST00000435803,;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	928	49	46	SUCCESS
USP42	84132	.	GRCh37	7	6189834	6189834	+	synonymous_variant	Silent	SNP	G	G	A	rs750773438	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	26	45	0	ENST00000306177.5:c.2007G>A	p.Pro669=	p.P669=	ENST00000306177	NM_032172.2	669	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47535.1	2007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGAAAGA	NONE	byFrequency	.	hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	.	ENSP00000301962	.	13/18	.	.	.	.	.	.	.	.	rs750773438	13/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,downstream_gene_variant,,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;	2165	45	44	SUCCESS
SRRM3	222183	.	GRCh37	7	75896669	75896669	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	50	0	ENST00000326382.8:c.924G>A	p.Trp308Ter	p.W308*	ENST00000326382	NM_001110199.1	308	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	.	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGGGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF13	.	.	ENSP00000325298	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000326382	Transcript	.	.	ENSG00000177679	26729	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRRM3_HUMAN	SRRM3	HGNC	.	.	UPI0000E5ADAA	SNV	SRRM3,stop_gained,p.Trp308Ter,ENST00000326382,;SRRM3,stop_gained,p.Trp308Ter,ENST00000388802,;SRRM3,non_coding_transcript_exon_variant,,ENST00000464752,;	1131	50	57	SUCCESS
CSMD3	114788	.	GRCh37	8	113293463	113293463	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	86	1	ENST00000297405.5:c.9448C>A	p.Pro3150Thr	p.P3150T	ENST00000297405	NM_198123.1	3150	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6315.1	9448	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGAAGGTCCAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	59/71	.	.	.	.	.	.	.	.	.	59/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.57)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Pro3080Thr,ENST00000352409,;CSMD3,missense_variant,p.Pro2981Thr,ENST00000455883,;CSMD3,missense_variant,p.Pro3150Thr,ENST00000297405,;CSMD3,missense_variant,p.Pro2420Thr,ENST00000339701,;CSMD3,missense_variant,p.Pro3110Thr,ENST00000343508,;	9693	87	104	SUCCESS
FER1L6	654463	.	GRCh37	8	125131937	125131937	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs375758950	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	61	107	1	ENST00000399018.1:c.5480T>A	p.Ile1827Asn	p.I1827N	ENST00000399018		1827	aTt/aAt	0	C:0	C:0	.	C:0	.	A	I/N	protein_coding	YES	CCDS43767.1	5480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCATTGCTT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	C:0	C:0.0001	ENSP00000428280	C:0	41/41	.	.	.	.	.	.	.	.	rs375758950	41/41	PASS	ENST00000522917	Transcript	.	C:0.0002	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	C:0.001	deleterious(0.03)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Ile1827Asn,ENST00000522917,;FER1L6,missense_variant,p.Ile1827Asn,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	5686	108	115	SUCCESS
DENND3	22898	.	GRCh37	8	142151309	142151309	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	56	0	ENST00000262585.2:c.269A>G	p.Tyr90Cys	p.Y90C	ENST00000262585	NM_014957.2	90	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34947.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTACTGTT	NONE	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	.	.	ENSP00000262585	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.18)	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Tyr170Cys,ENST00000519811,;DENND3,missense_variant,p.Tyr90Cys,ENST00000424248,;DENND3,missense_variant,p.Tyr170Cys,ENST00000518347,;DENND3,missense_variant,p.Tyr90Cys,ENST00000262585,;DENND3,missense_variant,p.Tyr147Cys,ENST00000518668,;DENND3,missense_variant,p.Tyr170Cys,ENST00000523058,;DENND3,missense_variant,p.Tyr3Cys,ENST00000518249,;DENND3,missense_variant,p.Tyr103Cys,ENST00000519291,;DENND3,intron_variant,,ENST00000520986,;DENND3,3_prime_UTR_variant,,ENST00000518198,;DENND3,upstream_gene_variant,,ENST00000523015,;	547	56	72	SUCCESS
ZNF16	7564	.	GRCh37	8	146157778	146157778	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	43	65	0	ENST00000276816.4:c.395A>T	p.Gln132Leu	p.Q132L	ENST00000276816	NM_001029976.2	132	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6437.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGGGAG	NONE	.	.	.	.	.	ENSP00000276816	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000276816	Transcript	.	.	ENSG00000170631	12947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.07)	.	ZNF16_HUMAN	ZNF16	HGNC	Q8ND22_HUMAN,E9PQV1_HUMAN,E9PNT9_HUMAN	.	UPI00001E058F	SNV	ZNF16,missense_variant,p.Gln132Leu,ENST00000532351,;ZNF16,missense_variant,p.Gln132Leu,ENST00000276816,;ZNF16,missense_variant,p.Gln132Leu,ENST00000394909,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,non_coding_transcript_exon_variant,,ENST00000532811,;ZNF16,downstream_gene_variant,,ENST00000527512,;	582	65	85	SUCCESS
MSR1	4481	.	GRCh37	8	16035438	16035438	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	31	71	0	ENST00000262101.5:c.60T>A	p.Ser20=	p.S20=	ENST00000262101		20	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5995.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACAGATTC	NONE	.	.	hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Prints_domain:PR01408	.	.	ENSP00000262101	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000262101	Transcript	1	.	ENSG00000038945	7376	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSRE_HUMAN	MSR1	HGNC	E5RFW8_HUMAN	.	UPI000012F686	SNV	MSR1,synonymous_variant,p.%3D,ENST00000518960,;MSR1,synonymous_variant,p.%3D,ENST00000445506,;MSR1,synonymous_variant,p.%3D,ENST00000518026,;MSR1,synonymous_variant,p.%3D,ENST00000350896,;MSR1,synonymous_variant,p.%3D,ENST00000355282,;MSR1,synonymous_variant,p.%3D,ENST00000262101,;MSR1,synonymous_variant,p.%3D,ENST00000381998,;MSR1,5_prime_UTR_variant,,ENST00000536385,;MSR1,synonymous_variant,p.%3D,ENST00000519060,;	182	71	36	SUCCESS
TEX15	56154	.	GRCh37	8	30705371	30705371	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	45	117	0	ENST00000256246.2:c.1163T>C	p.Ile388Thr	p.I388T	ENST00000256246	NM_031271.3	388	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6080.1	1163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTATGTCT	NONE	.	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	.	.	ENSP00000256246	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000256246	Transcript	.	.	ENSG00000133863	11738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	tolerated(0.14)	.	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,missense_variant,p.Ile388Thr,ENST00000256246,;TEX15,downstream_gene_variant,,ENST00000523186,;	1238	117	54	SUCCESS
RGS20	8601	.	GRCh37	8	54792132	54792132	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	79	0	ENST00000297313.3:c.480C>T	p.Asp160=	p.D160=	ENST00000297313	NM_170587.2	160	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS6155.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGCCAC	NONE	.	.	hmmpanther:PTHR10845:SF154,hmmpanther:PTHR10845	.	.	ENSP00000297313	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000297313	Transcript	.	.	ENSG00000147509	14600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS20_HUMAN	RGS20	HGNC	B3KSW4_HUMAN	.	UPI000013383C	SNV	RGS20,synonymous_variant,p.%3D,ENST00000297313,;RGS20,intron_variant,,ENST00000344277,;RGS20,upstream_gene_variant,,ENST00000276500,;RGS20,upstream_gene_variant,,ENST00000522225,;RP11-1070A24.2,upstream_gene_variant,,ENST00000606037,;RGS20,upstream_gene_variant,,ENST00000523064,;RGS20,upstream_gene_variant,,ENST00000523414,;RGS20,upstream_gene_variant,,ENST00000518286,;RGS20,intron_variant,,ENST00000523280,;RGS20,intron_variant,,ENST00000517659,;	572	79	89	SUCCESS
LYN	4067	.	GRCh37	8	56879395	56879395	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1183826897	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	57	151	0	ENST00000519728.1:c.912G>T	p.Arg304Ser	p.R304S	ENST00000519728	NM_002350.3	304	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS6162.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGCTCTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000428924	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000519728	Transcript	.	.	ENSG00000254087	6735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	tolerated(0.05)	.	LYN_HUMAN	LYN	HGNC	E5RJ37_HUMAN,B4DQ79_HUMAN	.	UPI000013DACD	SNV	LYN,missense_variant,p.Arg304Ser,ENST00000519728,;LYN,missense_variant,p.Arg283Ser,ENST00000520220,;LYN,non_coding_transcript_exon_variant,,ENST00000420292,;	1208	151	157	SUCCESS
PREX2	80243	.	GRCh37	8	69143582	69143582	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777006292	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	67	0	ENST00000288368.4:c.4790G>T	p.Cys1597Phe	p.C1597F	ENST00000288368	NM_024870.2	1597	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS6201.1	4790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGCGAGC	NONE	byFrequency	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	40/40	.	.	.	.	.	.	.	.	rs777006292	40/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Cys1597Phe,ENST00000288368,;	5067	67	86	SUCCESS
TERF1	7013	.	GRCh37	8	73932979	73932979	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	208	124	252	0	ENST00000276603.5:c.476G>C	p.Gly159Ala	p.G159A	ENST00000276603	NM_017489.2	159	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS6211.1	476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGTTCAA	NONE	.	.	hmmpanther:PTHR21717,hmmpanther:PTHR21717:SF14,Gene3D:1.25.40.210,Pfam_domain:PF08558,PIRSF_domain:PIRSF038016,Superfamily_domains:SSF63600	.	.	ENSP00000276603	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000276603	Transcript	.	.	ENSG00000147601	11728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.91)	.	TERF1_HUMAN	TERF1	HGNC	.	.	UPI000013DAD5	SNV	TERF1,missense_variant,p.Gly159Ala,ENST00000276602,;TERF1,missense_variant,p.Gly159Ala,ENST00000276603,;TERF1,missense_variant,p.Gly127Ala,ENST00000518874,;TERF1,missense_variant,p.Gly55Ala,ENST00000517390,;RNU6-285P,upstream_gene_variant,,ENST00000410556,;TERF1,upstream_gene_variant,,ENST00000522018,;	499	252	333	SUCCESS
ZFAND1	79752	.	GRCh37	8	82615054	82615054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	22	169	0	ENST00000220669.5:c.683A>G	p.Asp228Gly	p.D228G	ENST00000220669	NM_024699.2	228	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS6232.1	683	RADIA|MUTECT|MUSE|VARSCANS	.	TATGATCCAAG	NONE	.	.	hmmpanther:PTHR14677,hmmpanther:PTHR14677:SF12	.	.	ENSP00000220669	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000220669	Transcript	.	.	ENSG00000104231	25858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.071)	.	tolerated(0.08)	.	ZFAN1_HUMAN	ZFAND1	HGNC	Q05BD2_HUMAN,E5RK75_HUMAN,E5RJ74_HUMAN,E5RIH7_HUMAN,E5RHR9_HUMAN,E5RG60_HUMAN,E5RFU1_HUMAN	.	UPI0000072F9B	SNV	ZFAND1,missense_variant,p.Asp221Gly,ENST00000523096,;ZFAND1,missense_variant,p.Asp121Gly,ENST00000522520,;ZFAND1,missense_variant,p.Asp228Gly,ENST00000220669,;ZFAND1,missense_variant,p.Asp121Gly,ENST00000521287,;ZFAND1,synonymous_variant,p.%3D,ENST00000521895,;ZFAND1,downstream_gene_variant,,ENST00000517588,;ZFAND1,downstream_gene_variant,,ENST00000519523,;ZFAND1,downstream_gene_variant,,ENST00000520604,;ZFAND1,downstream_gene_variant,,ENST00000520635,;ZFAND1,downstream_gene_variant,,ENST00000523361,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000519338,;ZFAND1,3_prime_UTR_variant,,ENST00000519464,;ZFAND1,3_prime_UTR_variant,,ENST00000522032,;ZFAND1,3_prime_UTR_variant,,ENST00000523431,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000524305,;	702	169	187	SUCCESS
TP53INP1	94241	.	GRCh37	8	95952315	95952315	+	synonymous_variant	Silent	SNP	G	G	T	rs774896614	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	21	153	0	ENST00000342697.4:c.246C>A	p.Ser82=	p.S82=	ENST00000342697	NM_033285.3	82	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6265.1	246	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGGAATC	NONE	byFrequency	.	hmmpanther:PTHR31671:SF0,hmmpanther:PTHR31671,Pfam_domain:PF14839	.	.	ENSP00000344215	.	3/4	.	.	.	.	.	.	.	.	rs774896614	3/4	PASS	ENST00000342697	Transcript	.	.	ENSG00000164938	18022	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T53I1_HUMAN	TP53INP1	HGNC	.	.	UPI00000725F8	SNV	TP53INP1,synonymous_variant,p.%3D,ENST00000378776,;TP53INP1,synonymous_variant,p.%3D,ENST00000342697,;TP53INP1,synonymous_variant,p.%3D,ENST00000448464,;NDUFAF6,intron_variant,,ENST00000519136,;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000523378,;	654	153	153	SUCCESS
OSR2	116039	.	GRCh37	8	99963924	99963924	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	44	0	ENST00000297565.4:c.934T>G	p.Phe312Val	p.F312V	ENST00000297565	NM_001142462.1	312	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS47901.1	934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACTTCTAG	NONE	.	.	hmmpanther:PTHR14196:SF4,hmmpanther:PTHR14196	.	.	ENSP00000297565	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000297565	Transcript	.	.	ENSG00000164920	15830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0)	.	OSR2_HUMAN	OSR2	HGNC	E5RH47_HUMAN	.	UPI00001AEC4D	SNV	OSR2,missense_variant,p.Phe312Val,ENST00000297565,;OSR2,missense_variant,p.Phe433Val,ENST00000457907,;OSR2,missense_variant,p.Phe312Val,ENST00000522510,;OSR2,3_prime_UTR_variant,,ENST00000435298,;OSR2,downstream_gene_variant,,ENST00000520951,;OSR2,downstream_gene_variant,,ENST00000518199,;OSR2,downstream_gene_variant,,ENST00000523368,;OSR2,downstream_gene_variant,,ENST00000520722,;OSR2,downstream_gene_variant,,ENST00000521044,;	1430	44	62	SUCCESS
GABBR2	9568	.	GRCh37	9	101068512	101068512	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	63	173	0	ENST00000259455.2:c.2120C>T	p.Ala707Val	p.A707V	ENST00000259455	NM_005458.7	707	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6736.1	2120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGGCCCCG	NONE	.	.	Prints_domain:PR00248,Prints_domain:PR01176,Pfam_domain:PF00003,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34,PROSITE_profiles:PS50259,Transmembrane_helices:TMhelix	.	.	ENSP00000259455	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000259455	Transcript	.	.	ENSG00000136928	4507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.428)	.	tolerated(0.17)	.	GABR2_HUMAN	GABBR2	HGNC	H9NIL8_HUMAN	.	UPI0000035832	SNV	GABBR2,missense_variant,p.Ala707Val,ENST00000259455,;	2580	173	70	SUCCESS
AKNA	80709	.	GRCh37	9	117139221	117139221	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	23	83	0	ENST00000307564.4:c.866G>A	p.Cys289Tyr	p.C289Y	ENST00000307564	NM_030767.4	289	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS6805.1	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCAGAAG	NONE	.	.	hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510	.	.	ENSP00000303769	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000307564	Transcript	.	.	ENSG00000106948	24108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.39)	.	AKNA_HUMAN	AKNA	HGNC	.	.	UPI000021168C	SNV	AKNA,missense_variant,p.Cys289Tyr,ENST00000307564,;AKNA,missense_variant,p.Cys289Tyr,ENST00000312033,;AKNA,missense_variant,p.Cys289Tyr,ENST00000374088,;AKNA,missense_variant,p.Cys208Tyr,ENST00000374075,;AKNA,5_prime_UTR_variant,,ENST00000223791,;	1028	83	27	SUCCESS
URM1	81605	.	GRCh37	9	131133678	131133678	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	27	79	0	ENST00000372853.4:c.19G>C	p.Val7Leu	p.V7L	ENST00000372853	NM_001265582.1	7	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS48035.1	19	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAGTGGAG	NONE	.	.	HAMAP:MF_03048,hmmpanther:PTHR14986:SF4,hmmpanther:PTHR14986,Pfam_domain:PF09138,Gene3D:3.10.20.30,Superfamily_domains:SSF54285	.	.	ENSP00000412922	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000452446	Transcript	.	.	ENSG00000167118	28378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.51)	.	URM1_HUMAN	URM1	HGNC	.	.	UPI00017A7D83	SNV	URM1,missense_variant,p.Val7Leu,ENST00000372847,;URM1,missense_variant,p.Val7Leu,ENST00000372850,;URM1,missense_variant,p.Val7Leu,ENST00000452446,;URM1,missense_variant,p.Val7Leu,ENST00000372853,;URM1,missense_variant,p.Val7Leu,ENST00000470840,;	81	79	33	SUCCESS
LAMC3	10319	.	GRCh37	9	133963131	133963131	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	111	0	ENST00000361069.4:c.4404G>T	p.Glu1468Asp	p.E1468D	ENST00000361069	NM_006059.3	1468	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6938.1	4404	MUTECT|MUSE	.	ATGGAGCAGCA	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240	.	.	ENSP00000354360	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	tolerated(0.18)	.	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,missense_variant,p.Glu150Asp,ENST00000355452,;LAMC3,missense_variant,p.Glu1468Asp,ENST00000361069,;LAMC3,non_coding_transcript_exon_variant,,ENST00000462567,;LAMC3,intron_variant,,ENST00000480883,;	4537	111	39	SUCCESS
NTNG2	84628	.	GRCh37	9	135116364	135116364	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	21	43	0	ENST00000393229.3:c.1290C>A	p.Arg430=	p.R430=	ENST00000393229	NM_032536.2	430	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6946.1	1290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGCGAGGG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,PROSITE_profiles:PS50027	.	.	ENSP00000376921	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000393229	Transcript	.	.	ENSG00000196358	14288	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTNG2_HUMAN	NTNG2	HGNC	.	.	UPI0000367698	SNV	NTNG2,synonymous_variant,p.%3D,ENST00000393228,;NTNG2,synonymous_variant,p.%3D,ENST00000360670,;NTNG2,synonymous_variant,p.%3D,ENST00000393229,;NTNG2,non_coding_transcript_exon_variant,,ENST00000490694,;NTNG2,upstream_gene_variant,,ENST00000483055,;	2066	43	22	SUCCESS
VLDLR	7436	.	GRCh37	9	2641451	2641451	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	46	114	0	ENST00000382100.3:c.400T>A	p.Cys134Ser	p.C134S	ENST00000382100	NM_003383.3	134	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS6446.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATGTGAT	NONE	.	.	Prints_domain:PR00261,Superfamily_domains:SSF57424,SMART_domains:SM00192,Pfam_domain:PF00057,Gene3D:4.10.400.10,PROSITE_patterns:PS01209,hmmpanther:PTHR10529:SF101,hmmpanther:PTHR10529,PROSITE_profiles:PS50068	.	.	ENSP00000371532	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000382100	Transcript	.	.	ENSG00000147852	12698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VLDLR_HUMAN	VLDLR	HGNC	.	.	UPI0000055935	SNV	VLDLR,missense_variant,p.Cys134Ser,ENST00000382100,;VLDLR,missense_variant,p.Cys134Ser,ENST00000382099,;VLDLR,intron_variant,,ENST00000382096,;RP11-125B21.2,upstream_gene_variant,,ENST00000599229,;VLDLR,upstream_gene_variant,,ENST00000478776,;	756	114	55	SUCCESS
IL13RA2	3598	.	GRCh37	X	114249118	114249118	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	38	51	0	ENST00000243213.1:c.266T>A	p.Leu89Gln	p.L89Q	ENST00000243213	NM_000640.2	89	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14565.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTAGATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF89,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000361004	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000371936	Transcript	.	.	ENSG00000123496	5975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	I13R2_HUMAN	IL13RA2	HGNC	.	.	UPI000002E794	SNV	IL13RA2,missense_variant,p.Leu89Gln,ENST00000243213,;IL13RA2,missense_variant,p.Leu89Gln,ENST00000371936,;IL13RA2,non_coding_transcript_exon_variant,,ENST00000468224,;	516	51	41	SUCCESS
KIAA1210	57481	.	GRCh37	X	118223434	118223434	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	36	41	0	ENST00000402510.2:c.1759T>A	p.Leu587Met	p.L587M	ENST00000402510	NM_020721.1	587	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS48156.1	1759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAAGTGCG	NONE	.	.	hmmpanther:PTHR12036:SF19,hmmpanther:PTHR12036	.	.	ENSP00000384670	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.683)	.	tolerated(0.1)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Leu587Met,ENST00000402510,;	1759	41	38	SUCCESS
MAGEC1	9947	.	GRCh37	X	140994576	140994576	+	synonymous_variant	Silent	SNP	C	C	A	rs779460228	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	11	114	0	ENST00000285879.4:c.1386C>A	p.Ser462=	p.S462=	ENST00000285879	NM_005462.4	462	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35417.1	1386	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCCCTGA	BUFFER|p.F459F|c.1377C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736	.	.	ENSP00000285879	.	4/4	.	.	.	.	.	.	.	.	rs779460228	4/4	PASS	ENST00000285879	Transcript	.	.	ENSG00000155495	6812	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGC1_HUMAN	MAGEC1	HGNC	A0PK03_HUMAN	.	UPI000006F2FD	SNV	MAGEC1,synonymous_variant,p.%3D,ENST00000285879,;MAGEC1,intron_variant,,ENST00000406005,;	1672	114	112	SUCCESS
MBTPS2	51360	.	GRCh37	X	21887622	21887622	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	62	55	0	ENST00000379484.5:c.796C>T	p.Pro266Ser	p.P266S	ENST00000379484	NM_015884.3	266	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS14201.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCCTGCC	NONE	.	.	hmmpanther:PTHR13325:SF2,hmmpanther:PTHR13325,Gene3D:2.30.42.10,Pfam_domain:PF02163,Superfamily_domains:SSF50156	.	.	ENSP00000368798	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000379484	Transcript	.	.	ENSG00000012174	15455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	tolerated(0.07)	.	MBTP2_HUMAN	MBTPS2	HGNC	.	.	UPI000012F5A0	SNV	MBTPS2,missense_variant,p.Pro266Ser,ENST00000365779,;MBTPS2,missense_variant,p.Pro266Ser,ENST00000379484,;Y_RNA,upstream_gene_variant,,ENST00000383912,;	895	55	67	SUCCESS
DMD	1756	.	GRCh37	X	32429921	32429921	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	0	55	51	0	ENST00000357033.4:c.4181C>A	p.Ala1394Glu	p.A1394E	ENST00000357033	NM_004007.2	1394	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS14233.1	4181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGCCAAC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	30/79	.	.	.	.	.	.	.	.	.	30/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Ala1394Glu,ENST00000357033,;DMD,missense_variant,p.Ala1390Glu,ENST00000378677,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	4388	51	55	SUCCESS
BCOR	54880	.	GRCh37	X	39932115	39932115	+	synonymous_variant	Silent	SNP	T	T	A	rs765502406	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	37	58	0	ENST00000378444.4:c.2484A>T	p.Ala828=	p.A828=	ENST00000378444	NM_001123385.1	828	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS48093.1	2484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTGCTGC	NONE	.	.	hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	.	.	ENSP00000367705	.	4/15	.	.	.	.	.	.	.	.	rs765502406	4/15	PASS	ENST00000378444	Transcript	.	.	ENSG00000183337	20893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCOR_HUMAN	BCOR	HGNC	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN	.	UPI00002318CF	SNV	BCOR,synonymous_variant,p.%3D,ENST00000397354,;BCOR,synonymous_variant,p.%3D,ENST00000378444,;BCOR,synonymous_variant,p.%3D,ENST00000406200,;BCOR,synonymous_variant,p.%3D,ENST00000378455,;BCOR,synonymous_variant,p.%3D,ENST00000342274,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	2713	58	42	SUCCESS
MAOA	4128	.	GRCh37	X	43603116	43603116	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	27	39	0	ENST00000338702.3:c.1338A>T	p.Glu446Asp	p.E446D	ENST00000338702	NM_000240.3	446	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS14260.1	1338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF253,Pfam_domain:PF01593,Superfamily_domains:SSF51905,Prints_domain:PR00757	.	.	ENSP00000340684	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000338702	Transcript	.	.	ENSG00000189221	6833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.34)	.	AOFA_HUMAN	MAOA	HGNC	Q5ULA9_HUMAN,Q5ULA3_HUMAN,Q5UL94_HUMAN,Q5UL91_HUMAN,Q53YE7_HUMAN	.	UPI0000125B99	SNV	MAOA,missense_variant,p.Glu313Asp,ENST00000542639,;MAOA,missense_variant,p.Glu446Asp,ENST00000338702,;MAOA,non_coding_transcript_exon_variant,,ENST00000490604,;	1461	39	30	SUCCESS
WDR45	11152	.	GRCh37	X	48931536	48931536	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	30	21	0	ENST00000553851.1:c.522-1227C>A		p.*174*	ENST00000553851		37		0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14317.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGACGCG	NONE	.	.	hmmpanther:PTHR12859:SF1,hmmpanther:PTHR12859,Pfam_domain:PF03208	.	.	ENSP00000365570	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376390	Transcript	.	.	ENSG00000243279	28911	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRAF2_HUMAN	PRAF2	HGNC	.	.	UPI000004A126	SNV	PRAF2,synonymous_variant,p.%3D,ENST00000376390,;PRAF2,synonymous_variant,p.%3D,ENST00000376386,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000553851,;WDR45,downstream_gene_variant,,ENST00000367375,;WDR45,downstream_gene_variant,,ENST00000419567,;WDR45,downstream_gene_variant,,ENST00000475977,;WDR45,downstream_gene_variant,,ENST00000322995,;WDR45,downstream_gene_variant,,ENST00000486337,;CCDC120,downstream_gene_variant,,ENST00000376396,;WDR45,downstream_gene_variant,,ENST00000476728,;CCDC120,downstream_gene_variant,,ENST00000422185,;WDR45,downstream_gene_variant,,ENST00000396681,;WDR45,downstream_gene_variant,,ENST00000376372,;WDR45,downstream_gene_variant,,ENST00000473974,;WDR45,downstream_gene_variant,,ENST00000465382,;WDR45,downstream_gene_variant,,ENST00000485908,;WDR45,downstream_gene_variant,,ENST00000356463,;WDR45,downstream_gene_variant,,ENST00000376368,;WDR45,downstream_gene_variant,,ENST00000474053,;WDR45,downstream_gene_variant,,ENST00000423215,;WDR45,downstream_gene_variant,,ENST00000471338,;WDR45,downstream_gene_variant,,ENST00000475880,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,downstream_gene_variant,,ENST00000465431,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,downstream_gene_variant,,ENST00000465806,;WDR45,downstream_gene_variant,,ENST00000480412,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,downstream_gene_variant,,ENST00000433252,;CCDC120,downstream_gene_variant,,ENST00000603745,;WDR45,downstream_gene_variant,,ENST00000472654,;	195	21	36	SUCCESS
OPHN1	4983	.	GRCh37	X	67293091	67293091	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	83	89	0	ENST00000355520.5:c.1737T>A	p.Pro579=	p.P579=	ENST00000355520	NM_002547.2	579	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14388.1	1737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGAGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12552:SF2,hmmpanther:PTHR12552	.	.	ENSP00000347710	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000355520	Transcript	.	.	ENSG00000079482	8148	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPHN1_HUMAN	OPHN1	HGNC	Q7Z2H1_HUMAN	.	UPI000003319E	SNV	OPHN1,synonymous_variant,p.%3D,ENST00000355520,;OPHN1,synonymous_variant,p.%3D,ENST00000540071,;OPHN1,non_coding_transcript_exon_variant,,ENST00000484842,;RP11-516A11.1,upstream_gene_variant,,ENST00000426382,;	2379	89	90	SUCCESS
CDH23	64072	.	GRCh37	10	73330627	73330627	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	97	0	ENST00000224721.6:c.720C>A	p.Ile240=	p.I240=	ENST00000224721	NM_022124.5	240	atC/atA	0	.	.	.	.	.	A	I	protein_coding	.	CCDS44429.1	705	RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCTTCAT	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF2,PROSITE_profiles:PS50268	.	.	ENSP00000381789	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000398809	Transcript	1	.	ENSG00000107736	13733	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAD23_HUMAN	CDH23	HGNC	.	.	UPI000015FC45	SNV	CDH23,synonymous_variant,p.%3D,ENST00000398809,;CDH23,synonymous_variant,p.%3D,ENST00000398842,;CDH23,synonymous_variant,p.%3D,ENST00000466757,;CDH23,synonymous_variant,p.%3D,ENST00000224721,;CDH23,synonymous_variant,p.%3D,ENST00000461841,;CDH23,synonymous_variant,p.%3D,ENST00000299366,;	1095	97	75	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103006470	103006470	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	30	136	0	ENST00000375735.2:c.2367G>C	p.Arg789Ser	p.R789S	ENST00000375735	NM_001080463.1	789	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS44717.1	2367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGCCCCC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	.	.	ENSP00000381167	.	17/90	.	.	.	.	.	.	.	.	.	17/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Arg789Ser,ENST00000398093,;DYNC2H1,missense_variant,p.Arg789Ser,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	2367	136	130	SUCCESS
SPTBN2	6712	.	GRCh37	11	66460755	66460755	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	47	0	ENST00000309996.2:c.4756G>T	p.Asp1586Tyr	p.D1586Y	ENST00000309996	NM_006946.2	1586	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8150.1	4756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCCTCCA	NONE	.	.	Superfamily_domains:SSF46966,Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	deleterious(0.01)	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Asp1586Tyr,ENST00000533211,;SPTBN2,missense_variant,p.Asp1586Tyr,ENST00000309996,;SPTBN2,missense_variant,p.Asp1586Tyr,ENST00000529997,;SPTBN2,upstream_gene_variant,,ENST00000532650,;SPTBN2,upstream_gene_variant,,ENST00000532902,;SPTBN2,downstream_gene_variant,,ENST00000530665,;	5088	47	39	SUCCESS
KLHL35	283212	.	GRCh37	11	75134789	75134789	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	32	0	ENST00000539798.1:c.1510T>A	p.Tyr504Asn	p.Y504N	ENST00000539798	NM_001039548.2	504	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS44685.2	1510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATAGGTGA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000438526	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000539798	Transcript	.	.	ENSG00000149243	26597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	.	KLHL35	HGNC	F5H412_HUMAN	.	UPI0001B723C7	SNV	KLHL35,missense_variant,p.Tyr284Asn,ENST00000376292,;KLHL35,missense_variant,p.Tyr504Asn,ENST00000539798,;RPS3,downstream_gene_variant,,ENST00000527446,;KLHL35,non_coding_transcript_exon_variant,,ENST00000460787,;KLHL35,downstream_gene_variant,,ENST00000527491,;	1510	32	28	SUCCESS
AP2A2	161	.	GRCh37	11	985500	985500	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	23	0	ENST00000448903.2:c.880C>T	p.Pro294Ser	p.P294S	ENST00000448903	NM_012305.3	294	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44512.1	880	RADIA|MUTECT|MUSE|VARSCANS	.	AACCGCCCAAG	NONE	.	.	hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371	.	.	ENSP00000413234	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000448903	Transcript	.	.	ENSG00000183020	562	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.322)	.	deleterious(0.01)	.	AP2A2_HUMAN	AP2A2	HGNC	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN	.	UPI0000124FF5	SNV	AP2A2,missense_variant,p.Pro294Ser,ENST00000534328,;AP2A2,missense_variant,p.Pro295Ser,ENST00000332231,;AP2A2,missense_variant,p.Pro294Ser,ENST00000448903,;AP2A2,downstream_gene_variant,,ENST00000525796,;AP2A2,intron_variant,,ENST00000528195,;AP2A2,missense_variant,p.Pro295Ser,ENST00000528815,;AP2A2,non_coding_transcript_exon_variant,,ENST00000527917,;AP2A2,upstream_gene_variant,,ENST00000524952,;	1021	23	41	SUCCESS
CUX2	23316	.	GRCh37	12	111655734	111655734	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	34	0	ENST00000261726.6:c.215A>T	p.Gln72Leu	p.Q72L	ENST00000261726	NM_015267.3	72	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41837.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAAGCCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	.	.	ENSP00000261726	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000261726	Transcript	.	.	ENSG00000111249	19347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.295)	.	deleterious(0)	.	CUX2_HUMAN	CUX2	HGNC	Q9BZX3_HUMAN,Q9BZV4_HUMAN	.	UPI00001FBB07	SNV	CUX2,missense_variant,p.Gln132Leu,ENST00000397643,;CUX2,missense_variant,p.Gln72Leu,ENST00000261726,;CUX2,non_coding_transcript_exon_variant,,ENST00000551604,;	369	34	47	SUCCESS
CLIP1	6249	.	GRCh37	12	122845703	122845703	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	46	0	ENST00000540338.1:c.808G>A	p.Gly270Ser	p.G270S	ENST00000540338		270	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS58285.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCCATATT	BUFFER|p.L271F|c.813G>T|4,BUFFER|p.L271F|c.813G>T|4	.	.	Superfamily_domains:SSF74924,SMART_domains:SM01052,Pfam_domain:PF01302,Gene3D:2.30.30.190,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF30,PROSITE_profiles:PS50245	.	.	ENSP00000439093	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000540338	Transcript	.	.	ENSG00000130779	10461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLIP1_HUMAN	CLIP1	HGNC	F5H367_HUMAN,F5H270_HUMAN	.	UPI0000E00D4E	SNV	CLIP1,missense_variant,p.Gly270Ser,ENST00000537178,;CLIP1,missense_variant,p.Gly270Ser,ENST00000302528,;CLIP1,missense_variant,p.Gly270Ser,ENST00000361654,;CLIP1,missense_variant,p.Gly270Ser,ENST00000358808,;CLIP1,missense_variant,p.Gly270Ser,ENST00000537004,;CLIP1,missense_variant,p.Gly270Ser,ENST00000540304,;CLIP1,missense_variant,p.Gly270Ser,ENST00000540338,;CLIP1,5_prime_UTR_variant,,ENST00000545889,;CLIP1,missense_variant,p.Gly270Ser,ENST00000541108,;CLIP1,upstream_gene_variant,,ENST00000541410,;RPL21P1,upstream_gene_variant,,ENST00000399532,;	850	46	56	SUCCESS
PDE3A	5139	.	GRCh37	12	20769305	20769305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	42	0	ENST00000359062.3:c.1411G>A	p.Ala471Thr	p.A471T	ENST00000359062	NM_001244683.1	471	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31754.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGCACCT	NONE	.	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347	.	.	ENSP00000351957	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.4)	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.Ala471Thr,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	1451	42	35	SUCCESS
CERS5	91012	.	GRCh37	12	50560946	50560946	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	23	0	ENST00000317551.6:c.135G>A	p.Arg45=	p.R45=	ENST00000317551	NM_147190.2	45	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8801.1	135	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCCGGCC	NONE	.	.	PIRSF_domain:PIRSF005225,hmmpanther:PTHR12560:SF8,hmmpanther:PTHR12560	.	.	ENSP00000325485	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000317551	Transcript	.	.	ENSG00000139624	23749	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CERS5_HUMAN	CERS5	HGNC	F8W1K4_HUMAN	.	UPI000007101F	SNV	CERS5,synonymous_variant,p.%3D,ENST00000317551,;CERS5,5_prime_UTR_variant,,ENST00000422340,;CERS5,non_coding_transcript_exon_variant,,ENST00000547852,;CERS5,non_coding_transcript_exon_variant,,ENST00000549942,;RP4-605O3.4,downstream_gene_variant,,ENST00000548468,;CERS5,synonymous_variant,p.%3D,ENST00000551697,;CERS5,synonymous_variant,p.%3D,ENST00000546514,;CERS5,synonymous_variant,p.%3D,ENST00000550258,;CERS5,synonymous_variant,p.%3D,ENST00000550899,;CERS5,synonymous_variant,p.%3D,ENST00000547455,;CERS5,synonymous_variant,p.%3D,ENST00000542320,;CERS5,synonymous_variant,p.%3D,ENST00000549389,;CERS5,synonymous_variant,p.%3D,ENST00000438450,;CERS5,synonymous_variant,p.%3D,ENST00000547787,;CERS5,synonymous_variant,p.%3D,ENST00000380189,;	260	23	29	SUCCESS
GPR12	2835	.	GRCh37	13	27333209	27333209	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	46	0	ENST00000381436.2:c.756C>A	p.Thr252=	p.T252=	ENST00000381436		252	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9319.1	756	MUTECT|MUSE	.	GCCAGGGTGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF8,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00644	.	.	ENSP00000384932	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000405846	Transcript	.	.	ENSG00000132975	4466	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR12_HUMAN	GPR12	HGNC	B4DG25_HUMAN,A8K2F5_HUMAN	.	UPI000003EC24	SNV	GPR12,synonymous_variant,p.%3D,ENST00000405846,;GPR12,synonymous_variant,p.%3D,ENST00000381436,;	978	46	36	SUCCESS
C14orf37	0	.	GRCh37	14	58478850	58478850	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	442	79	407	0	ENST00000267485.7:c.2108A>G	p.Lys703Arg	p.K703R	ENST00000267485	NM_001001872.2	703	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS32089.1	2108	RADIA|MUTECT|MUSE|VARSCANS	.	TTAATTTTTCC	NONE	.	.	hmmpanther:PTHR21585:SF0,hmmpanther:PTHR21585	.	.	ENSP00000267485	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000267485	Transcript	.	.	ENSG00000139971	19846	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.486)	.	deleterious(0.02)	.	CN037_HUMAN	C14orf37	HGNC	.	.	UPI000000CC37	SNV	C14orf37,missense_variant,p.Lys703Arg,ENST00000267485,;	2303	407	522	SUCCESS
KCNH5	27133	.	GRCh37	14	63468076	63468076	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs527943803	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	15	64	0	ENST00000322893.7:c.406C>A	p.Gln136Lys	p.Q136K	ENST00000322893	NM_139318.4	136	Cag/Aag	0	.	A:0	.	A:0	.	T	Q/K	protein_coding	YES	CCDS9756.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGTTTGA	NONE	by1000G	.	Prints_domain:PR01464,hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217,PROSITE_profiles:PS50113	A:0	.	ENSP00000321427	A:0	4/11	.	.	.	.	.	.	.	.	rs527943803	4/11	PASS	ENST00000322893	Transcript	.	A:0.0002	ENSG00000140015	6254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	A:0.001	deleterious(0.02)	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,missense_variant,p.Gln78Lys,ENST00000394968,;KCNH5,missense_variant,p.Gln136Lys,ENST00000322893,;KCNH5,missense_variant,p.Gln136Lys,ENST00000420622,;KCNH5,missense_variant,p.Gln78Lys,ENST00000394964,;	675	64	87	SUCCESS
AHSA1	10598	.	GRCh37	14	77931884	77931884	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	28	0	ENST00000216479.3:c.564T>G		p.X188_splice	ENST00000216479	NM_012111.2	188	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9863.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCTAAGCC	NONE	.	.	hmmpanther:PTHR13009:SF7,hmmpanther:PTHR13009	.	.	ENSP00000216479	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000216479	Transcript	.	.	ENSG00000100591	1189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHSA1_HUMAN	AHSA1	HGNC	G3V438_HUMAN	.	UPI0000127BE0	SNV	AHSA1,synonymous_variant,p.%3D,ENST00000535854,;AHSA1,synonymous_variant,p.%3D,ENST00000553374,;AHSA1,synonymous_variant,p.%3D,ENST00000555133,;AHSA1,synonymous_variant,p.%3D,ENST00000216479,;AHSA1,intron_variant,,ENST00000555729,;AHSA1,upstream_gene_variant,,ENST00000557476,;SNORA46,upstream_gene_variant,,ENST00000391069,;AHSA1,intron_variant,,ENST00000555457,;AHSA1,splice_region_variant,,ENST00000555473,;AHSA1,downstream_gene_variant,,ENST00000556866,;AHSA1,downstream_gene_variant,,ENST00000556963,;AHSA1,upstream_gene_variant,,ENST00000556369,;AHSA1,downstream_gene_variant,,ENST00000554156,;	724	28	32	SUCCESS
RSL24D1	51187	.	GRCh37	15	55475581	55475581	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	24	124	1	ENST00000260443.4:c.350A>G	p.Glu117Gly	p.E117G	ENST00000260443	NM_016304.2	117	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS10152.1	350	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCTCTTTA	NONE	.	.	hmmpanther:PTHR10792:SF8,hmmpanther:PTHR10792	.	.	ENSP00000260443	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000260443	Transcript	.	.	ENSG00000137876	18479	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.03)	.	RLP24_HUMAN	RSL24D1	HGNC	.	.	UPI0000073C55	SNV	RSL24D1,missense_variant,p.Glu117Gly,ENST00000260443,;RSL24D1,3_prime_UTR_variant,,ENST00000562993,;	527	125	154	SUCCESS
ALDH1A2	8854	.	GRCh37	15	58254254	58254254	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	23	135	0	ENST00000249750.4:c.1207G>T	p.Val403Leu	p.V403L	ENST00000249750	NM_003888.3	403	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS10163.1	1207	RADIA|MUTECT|MUSE|VARSCANS	.	AAACACTGTGG	NONE	.	.	hmmpanther:PTHR11699:SF102,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720	.	.	ENSP00000249750	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000249750	Transcript	.	.	ENSG00000128918	15472	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	AL1A2_HUMAN	ALDH1A2	HGNC	Q9UED3_HUMAN,H0YKL3_HUMAN	.	UPI00001678B4	SNV	ALDH1A2,missense_variant,p.Val307Leu,ENST00000559517,;ALDH1A2,missense_variant,p.Val403Leu,ENST00000249750,;ALDH1A2,missense_variant,p.Val374Leu,ENST00000558231,;ALDH1A2,missense_variant,p.Val382Leu,ENST00000537372,;ALDH1A2,missense_variant,p.Val365Leu,ENST00000347587,;ALDH1A2,3_prime_UTR_variant,,ENST00000430119,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000560312,;	1975	135	144	SUCCESS
PEAK1	79834	.	GRCh37	15	77407661	77407661	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	39	0	ENST00000312493.4:c.4078A>T	p.Ile1360Phe	p.I1360F	ENST00000312493	NM_024776.3	1360	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS42062.1	4078	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATCTGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000452796	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,missense_variant,p.Ile1360Phe,ENST00000560626,;PEAK1,missense_variant,p.Ile1360Phe,ENST00000312493,;	4554	39	43	SUCCESS
TNRC6A	27327	.	GRCh37	16	24831569	24831569	+	synonymous_variant	Silent	SNP	G	G	A	rs552703108	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	26	93	0	ENST00000395799.3:c.5190G>A	p.Pro1730=	p.P1730=	ENST00000395799	NM_014494.2	1730	ccG/ccA	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS10624.2	5190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTCCCG	NONE	by1000G	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	A:0.001	.	ENSP00000379144	A:0	22/25	.	.	.	.	.	.	.	.	rs552703108	22/25	PASS	ENST00000395799	Transcript	.	A:0.0002	ENSG00000090905	11969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,synonymous_variant,p.%3D,ENST00000395799,;TNRC6A,synonymous_variant,p.%3D,ENST00000315183,;TNRC6A,synonymous_variant,p.%3D,ENST00000450465,;TNRC6A,synonymous_variant,p.%3D,ENST00000432286,;TNRC6A,synonymous_variant,p.%3D,ENST00000569098,;CTD-2515A14.1,upstream_gene_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000464539,;TNRC6A,downstream_gene_variant,,ENST00000569634,;TNRC6A,downstream_gene_variant,,ENST00000569376,;TNRC6A,downstream_gene_variant,,ENST00000462400,;TNRC6A,downstream_gene_variant,,ENST00000477487,;	5319	93	116	SUCCESS
DDX5	1655	.	GRCh37	17	62498310	62498310	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	16	75	0	ENST00000225792.5:c.1126A>G	p.Ser376Gly	p.S376G	ENST00000225792	NM_004396.3	376	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS11659.1	1126	RADIA|MUTECT|MUSE|VARSCANS	.	TTGACTCTTGT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF182,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000225792	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000225792	Transcript	.	.	ENSG00000108654	2746	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.119)	.	deleterious(0.02)	.	DDX5_HUMAN	DDX5	HGNC	J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN	.	UPI000003B456	SNV	DDX5,missense_variant,p.Ser376Gly,ENST00000578804,;DDX5,missense_variant,p.Ser297Gly,ENST00000450599,;DDX5,missense_variant,p.Ser376Gly,ENST00000225792,;DDX5,3_prime_UTR_variant,,ENST00000579996,;DDX5,downstream_gene_variant,,ENST00000584279,;DDX5,downstream_gene_variant,,ENST00000583212,;CEP95,upstream_gene_variant,,ENST00000553412,;DDX5,downstream_gene_variant,,ENST00000581806,;DDX5,downstream_gene_variant,,ENST00000583239,;DDX5,downstream_gene_variant,,ENST00000579091,;CEP95,upstream_gene_variant,,ENST00000556440,;DDX5,downstream_gene_variant,,ENST00000578190,;CEP95,upstream_gene_variant,,ENST00000581056,;DDX5,downstream_gene_variant,,ENST00000581697,;DDX5,downstream_gene_variant,,ENST00000585060,;CEP95,upstream_gene_variant,,ENST00000580188,;DDX5,downstream_gene_variant,,ENST00000585111,;DDX5,downstream_gene_variant,,ENST00000577787,;DDX5,downstream_gene_variant,,ENST00000577922,;MIR3064,upstream_gene_variant,,ENST00000581130,;MIR5047,upstream_gene_variant,,ENST00000579212,;DDX5,non_coding_transcript_exon_variant,,ENST00000578491,;DDX5,upstream_gene_variant,,ENST00000580026,;DDX5,downstream_gene_variant,,ENST00000584500,;DDX5,downstream_gene_variant,,ENST00000583699,;DDX5,upstream_gene_variant,,ENST00000581237,;DDX5,3_prime_UTR_variant,,ENST00000540698,;DDX5,3_prime_UTR_variant,,ENST00000581693,;DDX5,non_coding_transcript_exon_variant,,ENST00000579461,;DDX5,non_coding_transcript_exon_variant,,ENST00000578758,;DDX5,non_coding_transcript_exon_variant,,ENST00000581230,;DDX5,non_coding_transcript_exon_variant,,ENST00000585317,;DDX5,downstream_gene_variant,,ENST00000584549,;DDX5,downstream_gene_variant,,ENST00000585223,;CEP95,upstream_gene_variant,,ENST00000579860,;CEP95,upstream_gene_variant,,ENST00000553956,;DDX5,downstream_gene_variant,,ENST00000578400,;DDX5,downstream_gene_variant,,ENST00000582326,;DDX5,downstream_gene_variant,,ENST00000583894,;DDX5,downstream_gene_variant,,ENST00000581551,;DDX5,downstream_gene_variant,,ENST00000583562,;DDX5,downstream_gene_variant,,ENST00000583201,;	1528	75	117	SUCCESS
SMIM5	643008	.	GRCh37	17	73636388	73636389	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	78	0	ENST00000375215.3:c.108dup	p.Val37SerfsTer28	p.V37Sfs*28	ENST00000375215	NM_001162995.2	36	tca/tcAa	0	.	.	.	.	.	A	S/SX	protein_coding	YES	CCDS54165.1	107-108	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTCAGTCA	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000477017	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000537494	Transcript	.	.	ENSG00000204323	40030	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SMIM5	HGNC	.	.	UPI0000052778	insertion	SMIM5,frameshift_variant,p.Val37SerfsTer28,ENST00000375215,;SMIM5,frameshift_variant,p.Val37SerfsTer28,ENST00000537494,;RECQL5,intron_variant,,ENST00000578201,;RECQL5,intron_variant,,ENST00000423245,;RECQL5,intron_variant,,ENST00000317905,;RECQL5,upstream_gene_variant,,ENST00000580707,;RECQL5,upstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000579739,;RECQL5,intron_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000581827,;	3714-3715	78	83	SUCCESS
SEPT9	0	.	GRCh37	17	75369534	75369534	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	24	0	ENST00000427177.1:c.77-28607C>T		p.*26*	ENST00000427177	NM_001113491.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45790.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GGGCGCTTCCT	NONE	.	.	.	.	.	ENSP00000391249	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427177	Transcript	.	.	ENSG00000184640	7323	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEPT9_HUMAN	SEPT9	HGNC	Q96QF2_HUMAN,K7ERG1_HUMAN,K7ER52_HUMAN,K7EQD7_HUMAN,K7ENQ5_HUMAN,K7EN52_HUMAN,K7ELJ9_HUMAN,K7EL40_HUMAN,K7EKN4_HUMAN,K7EK18_HUMAN,K7EJZ2_HUMAN,K7EIR4_HUMAN,K7EIE4_HUMAN	.	UPI00001AF955	SNV	SEPT9,5_prime_UTR_variant,,ENST00000590059,;SEPT9,5_prime_UTR_variant,,ENST00000423034,;SEPT9,intron_variant,,ENST00000591198,;SEPT9,intron_variant,,ENST00000590294,;SEPT9,intron_variant,,ENST00000449803,;SEPT9,intron_variant,,ENST00000590595,;SEPT9,intron_variant,,ENST00000431235,;SEPT9,intron_variant,,ENST00000329047,;SEPT9,intron_variant,,ENST00000589070,;SEPT9,intron_variant,,ENST00000588690,;SEPT9,intron_variant,,ENST00000427177,;SEPT9,intron_variant,,ENST00000591934,;SEPT9,upstream_gene_variant,,ENST00000427674,;RP11-936I5.1,downstream_gene_variant,,ENST00000588701,;SEPT9,intron_variant,,ENST00000592098,;SEPT9,intron_variant,,ENST00000587237,;SEPT9,upstream_gene_variant,,ENST00000592407,;SEPT9,upstream_gene_variant,,ENST00000587514,;SEPT9,upstream_gene_variant,,ENST00000590586,;SEPT9,intron_variant,,ENST00000590576,;SEPT9,intron_variant,,ENST00000588575,;SEPT9,intron_variant,,ENST00000591833,;	.	24	38	SUCCESS
TP53	7157	.	GRCh37	17	7577511	7577511	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs28934577	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	72	0	ENST00000269305.4:c.770T>C	p.Leu257Pro	p.L257P	ENST00000269305	NM_001126112.2	257	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11118.1	770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTTCCAGTGTG	SITE|p.L257P|c.770T>C|11,CODON|p.0?|c.1_1182del1182|6,CODON|p.L257L|c.771G>A|3,CODON|p.L257Q|c.770T>A|3,CODON|p.L257Q|c.770T>A|3,CODON|p.L257Q|c.770T>A|11,BUFFER|p.S260_S261insX|c.780_781insNNN|3,BUFFER|p.S260S|c.780C>T|4,BUFFER|p.S260fs*85|c.778delT|3,BUFFER|p.S260C|c.779C>G|3,BUFFER|p.S260F|c.779C>T|3,BUFFER|p.D259E|c.777C>A|3,BUFFER|p.D259V|c.776A>T|17,BUFFER|p.D259V|c.776A>T|3,BUFFER|p.D259V|c.776A>T|3,BUFFER|p.D259G|c.776A>G|4,BUFFER|p.D259fs*86|c.775delG|3,BUFFER|p.D259N|c.775G>A|6,BUFFER|p.D259Y|c.775G>T|6,BUFFER|p.D259H|c.775G>C|3,BUFFER|p.D259Y|c.775G>T|23,BUFFER|p.D259Y|c.775G>T|4,BUFFER|p.D259Y|c.775G>T|6,BUFFER|p.E258D|c.774A>T|3,BUFFER|p.E258D|c.774A>C|3,BUFFER|p.E258D|c.774A>T|9,BUFFER|p.E258D|c.774A>T|3,BUFFER|p.E258G|c.773A>G|9,BUFFER|p.E258V|c.773A>T|10,BUFFER|p.E258A|c.773A>C|6,BUFFER|p.E258*|c.772G>T|20,BUFFER|p.E258K|c.772G>A|3,BUFFER|p.E258Q|c.772G>C|9,BUFFER|p.E258*|c.772G>T|8,BUFFER|p.E258*|c.772G>T|8,BUFFER|p.E258K|c.772G>A|43,BUFFER|p.E258K|c.772G>A|3,BUFFER|p.L257V|c.769C>G|5,BUFFER|p.T256T|c.768A>G|5,BUFFER|p.T256fs*89|c.766delA|3,BUFFER|p.T256fs*8|c.766_767insA|3,BUFFER|p.T256K|c.767C>A|4,BUFFER|p.T256A|c.766A>G|3,BUFFER|p.I255delI|c.763_765delATC|8,BUFFER|p.I255S|c.764T>G|4,BUFFER|p.I255S|c.764T>G|5,BUFFER|p.I255T|c.764T>C|7,BUFFER|p.I255N|c.764T>A|9,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255S|c.764T>G|5,BUFFER|p.I255S|c.764T>G|10,BUFFER|p.I255delI|c.760_762delATC|3,BUFFER|p.I255fs*90|c.762delC|3,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.I255fs*9|c.762_763insN|3,BUFFER|p.I255V|c.763A>G|3,BUFFER|p.I255F|c.763A>T|8,BUFFER|p.I255F|c.763A>T|8,BUFFER|p.I255F|c.763A>T|3,BUFFER|p.I255F|c.763A>T|3,BUFFER|p.I255F|c.763A>T|25,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254S|c.761T>G|9,BUFFER|p.I254N|c.761T>A|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254T|c.761T>C|3,BUFFER|p.I254F|c.760A>T|7,BUFFER|p.I254V|c.760A>G|6,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.I254fs*10|c.759_760insN|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	CD941800,rs28934577,CM941332,TP53_g.13407del,TP53_g.13407T>C,TP53_g.13407T>G,TP53_g.13407T>A,COSM44890,COSM43842,COSM43530,COSM1230108,COSM1386605,COSM1230109,COSM1386606,COSM4139865,COSM3378344,COSM4139864,COSM3378343	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1	.	25105660	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Leu257Pro,ENST00000413465,;TP53,missense_variant,p.Leu257Pro,ENST00000420246,;TP53,missense_variant,p.Leu257Pro,ENST00000269305,;TP53,missense_variant,p.Leu125Pro,ENST00000509690,;TP53,missense_variant,p.Leu257Pro,ENST00000359597,;TP53,missense_variant,p.Leu257Pro,ENST00000445888,;TP53,missense_variant,p.Leu257Pro,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	960	72	58	SUCCESS
ASPSCR1	79058	.	GRCh37	17	79937093	79937093	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	36	0	ENST00000306739.4:c.136A>G	p.Asn46Asp	p.N46D	ENST00000306739	NM_024083.3	46	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS58611.1	136	MUTECT|MUSE	.	ACTTCAACCCC	NONE	.	.	hmmpanther:PTHR23153:SF33,hmmpanther:PTHR23153,Pfam_domain:PF11470,Superfamily_domains:SSF54236	.	.	ENSP00000306625	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000306729	Transcript	.	.	ENSG00000169696	13825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.24)	.	ASPC1_HUMAN	ASPSCR1	HGNC	.	.	UPI000007263D	SNV	ASPSCR1,missense_variant,p.Asn27Asp,ENST00000579684,;ASPSCR1,missense_variant,p.Asn43Asp,ENST00000581484,;ASPSCR1,missense_variant,p.Asn46Asp,ENST00000306739,;ASPSCR1,missense_variant,p.Asn46Asp,ENST00000306729,;ASPSCR1,missense_variant,p.Asn46Asp,ENST00000581647,;ASPSCR1,5_prime_UTR_variant,,ENST00000582019,;ASPSCR1,intron_variant,,ENST00000580534,;ASPSCR1,missense_variant,p.Asn46Asp,ENST00000344865,;ASPSCR1,missense_variant,p.Asn46Asp,ENST00000583503,;ASPSCR1,5_prime_UTR_variant,,ENST00000584454,;	233	37	37	SUCCESS
ABR	29	.	GRCh37	17	909328	909328	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751168415	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	32	0	ENST00000302538.5:c.2572G>A	p.Asp858Asn	p.D858N	ENST00000302538	NM_021962.3	858	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10999.1	2572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCGGTGG	NONE	byFrequency	.	hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182	.	.	ENSP00000303909	.	23/23	.	.	.	.	.	.	.	.	rs751168415	23/23	PASS	ENST00000302538	Transcript	.	.	ENSG00000159842	81	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0.01)	.	ABR_HUMAN	ABR	HGNC	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN	.	UPI00001AED3D	SNV	ABR,missense_variant,p.Asp821Asn,ENST00000291107,;ABR,missense_variant,p.Asp812Asn,ENST00000574437,;ABR,missense_variant,p.Asp309Asn,ENST00000543210,;ABR,missense_variant,p.Asp812Asn,ENST00000544583,;ABR,missense_variant,p.Asp640Asn,ENST00000536794,;ABR,missense_variant,p.Asp858Asn,ENST00000302538,;ABR,synonymous_variant,p.%3D,ENST00000571797,;ABR,intron_variant,,ENST00000572441,;ABR,downstream_gene_variant,,ENST00000573559,;TIMM22,downstream_gene_variant,,ENST00000327158,;ABR,downstream_gene_variant,,ENST00000571383,;ABR,downstream_gene_variant,,ENST00000571120,;ABR,downstream_gene_variant,,ENST00000571022,;ABR,non_coding_transcript_exon_variant,,ENST00000572585,;ABR,downstream_gene_variant,,ENST00000570688,;ABR,downstream_gene_variant,,ENST00000572650,;ABR,downstream_gene_variant,,ENST00000572152,;	2719	32	26	SUCCESS
RGL3	57139	.	GRCh37	19	11516057	11516057	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	32	0	ENST00000380456.3:c.1042T>C	p.Ser348Pro	p.S348P	ENST00000380456	NM_001035223.2	348	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS54221.1	1042	MUTECT|MUSE	.	GGCGGACAGGA	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF181,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000377075	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000393423	Transcript	.	.	ENSG00000205517	30282	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RGL3_HUMAN	RGL3	HGNC	.	.	UPI0001A5C4AD	SNV	RGL3,missense_variant,p.Ser348Pro,ENST00000380456,;RGL3,missense_variant,p.Ser348Pro,ENST00000393423,;Y_RNA,upstream_gene_variant,,ENST00000365487,;RGL3,3_prime_UTR_variant,,ENST00000563726,;RGL3,3_prime_UTR_variant,,ENST00000562663,;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,;RGL3,non_coding_transcript_exon_variant,,ENST00000453604,;RGL3,non_coding_transcript_exon_variant,,ENST00000565895,;RGL3,intron_variant,,ENST00000589032,;RGL3,downstream_gene_variant,,ENST00000569439,;RGL3,downstream_gene_variant,,ENST00000561687,;	1092	32	57	SUCCESS
EMR3	0	.	GRCh37	19	14748990	14748990	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs553930762	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	49	0	ENST00000253673.5:c.1411G>A	p.Gly471Ser	p.G471S	ENST00000253673	NM_032571.3	471	Ggc/Agc	0	.	T:0.0008	.	T:0	.	T	G/S	protein_coding	YES	CCDS12315.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCCGACTG	NONE	by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178,PROSITE_profiles:PS50261	T:0	.	ENSP00000253673	T:0	11/16	.	.	.	.	.	.	.	.	rs553930762,COSM3282323	11/16	PASS	ENST00000253673	Transcript	.	T:0.0002	ENSG00000131355	23647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.986)	T:0	deleterious(0)	0,1	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,missense_variant,p.Gly471Ser,ENST00000253673,;EMR3,missense_variant,p.Gly256Ser,ENST00000599900,;EMR3,missense_variant,p.Gly419Ser,ENST00000344373,;EMR3,missense_variant,p.Gly345Ser,ENST00000443157,;	1512	49	80	SUCCESS
OR10H5	284433	.	GRCh37	19	15905584	15905584	+	synonymous_variant	Silent	SNP	T	T	C	rs1335779931	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	70	0	ENST00000308940.8:c.726T>C	p.Cys242=	p.C242=	ENST00000308940	NM_001004466.1	242	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS32940.1	726	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTGCCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000310704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000308940	Transcript	.	.	ENSG00000172519	15389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10H5_HUMAN	OR10H5	HGNC	.	.	UPI0000041C8F	SNV	OR10H5,synonymous_variant,p.%3D,ENST00000308940,;	824	70	89	SUCCESS
SLC7A9	11136	.	GRCh37	19	33349420	33349420	+	synonymous_variant	Silent	SNP	A	A	T	rs774424761	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	10	0	ENST00000023064.4:c.903T>A	p.Ala301=	p.A301=	ENST00000023064	NM_014270.4	301	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12425.1	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAAGCAGG	BUFFER|p.I304I|c.912C>T|4	.	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF305,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000023064	.	9/13	.	.	.	.	.	.	.	.	rs774424761	9/13	PASS	ENST00000023064	Transcript	1	.	ENSG00000021488	11067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAT1_HUMAN	SLC7A9	HGNC	K7EIF5_HUMAN	.	UPI0000037773	SNV	SLC7A9,synonymous_variant,p.%3D,ENST00000023064,;SLC7A9,synonymous_variant,p.%3D,ENST00000590341,;SLC7A9,synonymous_variant,p.%3D,ENST00000587772,;RN7SKP22,downstream_gene_variant,,ENST00000365097,;SLC7A9,3_prime_UTR_variant,,ENST00000592232,;SLC7A9,3_prime_UTR_variant,,ENST00000590465,;SLC7A9,non_coding_transcript_exon_variant,,ENST00000589659,;	1095	10	18	SUCCESS
LYPD4	147719	.	GRCh37	19	42343434	42343434	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	26	0	ENST00000330743.3:c.-75G>C		p.*25*	ENST00000330743	NM_173506.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12587.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCATCAG	NONE	.	.	.	.	.	ENSP00000328737	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000330743	Transcript	.	.	ENSG00000183103	28659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYPD4_HUMAN	LYPD4	HGNC	A8K8E0_HUMAN	.	UPI0000366E14	SNV	LYPD4,5_prime_UTR_variant,,ENST00000330743,;LYPD4,5_prime_UTR_variant,,ENST00000601246,;LYPD4,upstream_gene_variant,,ENST00000343055,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	1138	26	36	SUCCESS
TAS1R3	83756	.	GRCh37	1	1266874	1266874	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	28	0	ENST00000339381.5:c.149G>A	p.Gly50Asp	p.G50D	ENST00000339381	NM_152228.1	50	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS30556.1	149	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCCTCC	NONE	.	.	hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF2,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000344411	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000339381	Transcript	.	.	ENSG00000169962	15661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.34)	.	TS1R3_HUMAN	TAS1R3	HGNC	.	.	UPI0000051F47	SNV	TAS1R3,missense_variant,p.Gly50Asp,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000378891,;GLTPD1,downstream_gene_variant,,ENST00000488011,;GLTPD1,downstream_gene_variant,,ENST00000343938,;DVL1,downstream_gene_variant,,ENST00000378888,;GLTPD1,downstream_gene_variant,,ENST00000464957,;	181	28	37	SUCCESS
FLG	2312	.	GRCh37	1	152281994	152281994	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs200622741	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	28	111	0	ENST00000368799.1:c.5368C>A	p.Gln1790Lys	p.Q1790K	ENST00000368799	NM_002016.1	1790	Caa/Aaa	0	C:0	C:0	.	C:0	.	T	Q/K	protein_coding	YES	CCDS30860.1	5368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTGTCTTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	C:0	C:0.0001	ENSP00000357789	C:0.001	3/3	.	.	.	.	.	.	.	.	rs200622741,CM108253	3/3	PASS	ENST00000368799	Transcript	.	C:0.0002	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.042)	C:0	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gln1790Lys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	5404	111	111	SUCCESS
HMCN1	83872	.	GRCh37	1	185902929	185902929	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1187160192	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	50	0	ENST00000271588.4:c.1801G>A	p.Ala601Thr	p.A601T	ENST00000271588	NM_031935.2	601	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS30956.1	1801	RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGCCGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	11/107	.	.	.	.	.	.	.	.	.	11/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Ala601Thr,ENST00000367492,;HMCN1,missense_variant,p.Ala601Thr,ENST00000271588,;	2030	50	64	SUCCESS
UBR4	23352	.	GRCh37	1	19408022	19408022	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	52	0	ENST00000375254.3:c.15054G>T	p.Leu5018=	p.L5018=	ENST00000375254	NM_020765.2	5018	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS189.1	15054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCAGAAA	NONE	.	.	Pfam_domain:PF13764,hmmpanther:PTHR21725	.	.	ENSP00000364403	.	103/106	.	.	.	.	.	.	.	.	COSM273434	103/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000543981,;UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375225,;UBR4,synonymous_variant,p.%3D,ENST00000375224,;UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000429347,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;AL137127.1,downstream_gene_variant,,ENST00000582644,;UBR4,upstream_gene_variant,,ENST00000486515,;UBR4,upstream_gene_variant,,ENST00000459947,;	15082	52	85	SUCCESS
KIF14	9928	.	GRCh37	1	200562884	200562884	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs754538965	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	69	0	ENST00000367350.4:c.2563T>G	p.Phe855Val	p.F855V	ENST00000367350	NM_014875.2	855	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS30963.1	2563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAAATTTT	NONE	byFrequency	.	hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115,Pfam_domain:PF00498,Gene3D:2.60.200.20,SMART_domains:SM00240,Superfamily_domains:SSF49879	.	.	ENSP00000356319	.	15/30	.	.	.	.	.	.	.	.	rs754538965	15/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,missense_variant,p.Phe855Val,ENST00000367350,;	3002	69	74	SUCCESS
FAF1	11124	.	GRCh37	1	51323604	51323604	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	39	204	0	ENST00000396153.2:c.111A>T	p.Leu37Phe	p.L37F	ENST00000396153	NM_007051.2	37	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS554.1	111	RADIA|MUTECT|MUSE|VARSCANS	.	ACCACTAAGTC	NONE	.	.	Pfam_domain:PF14555,Gene3D:1.10.8.10	.	.	ENSP00000379457	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000396153	Transcript	.	.	ENSG00000185104	3578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FAF1_HUMAN	FAF1	HGNC	.	.	UPI0000032C67	SNV	FAF1,missense_variant,p.Leu37Phe,ENST00000371778,;FAF1,missense_variant,p.Leu37Phe,ENST00000396153,;FAF1,non_coding_transcript_exon_variant,,ENST00000487898,;	563	204	236	SUCCESS
PDE4B	5142	.	GRCh37	1	66713174	66713174	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs367809652	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	91	0	ENST00000329654.4:c.313C>G	p.Arg105Gly	p.R105G	ENST00000329654	NM_001037341.1	105	Cgg/Ggg	0	T:0.0002	.	.	.	.	G	R/G	protein_coding	YES	CCDS632.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCGGAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF90	.	T:0	ENSP00000332116	.	4/17	.	.	.	.	.	.	.	.	rs367809652	4/17	PASS	ENST00000329654	Transcript	.	.	ENSG00000184588	8781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	tolerated(0.07)	.	PDE4B_HUMAN	PDE4B	HGNC	E9PR34_HUMAN,E9PNB0_HUMAN,E9PJ03_HUMAN	.	UPI0000127BF6	SNV	PDE4B,missense_variant,p.Arg105Gly,ENST00000341517,;PDE4B,missense_variant,p.Arg13Gly,ENST00000412480,;PDE4B,missense_variant,p.Arg105Gly,ENST00000329654,;PDE4B,missense_variant,p.Arg90Gly,ENST00000423207,;PDE4B,missense_variant,p.Arg105Gly,ENST00000371049,;PDE4B,non_coding_transcript_exon_variant,,ENST00000532040,;PDE4B,non_coding_transcript_exon_variant,,ENST00000526666,;	500	91	86	SUCCESS
ENTPD6	955	.	GRCh37	20	25203506	25203506	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	35	0	ENST00000376652.4:c.1078G>T	p.Val360Leu	p.V360L	ENST00000376652		360	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS13170.1	1078	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGTGTCA	NONE	.	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF36,Pfam_domain:PF01150	.	.	ENSP00000365840	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000376652	Transcript	.	.	ENSG00000197586	3368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.277)	.	deleterious(0.05)	.	ENTP6_HUMAN	ENTPD6	HGNC	.	.	UPI0000052B67	SNV	ENTPD6,missense_variant,p.Val343Leu,ENST00000354989,;ENTPD6,missense_variant,p.Val184Leu,ENST00000376666,;ENTPD6,missense_variant,p.Val360Leu,ENST00000376652,;ENTPD6,missense_variant,p.Val326Leu,ENST00000433259,;ENTPD6,missense_variant,p.Val219Leu,ENST00000447877,;ENTPD6,missense_variant,p.Val359Leu,ENST00000360031,;ENTPD6,missense_variant,p.Val281Leu,ENST00000433417,;AL035252.1,downstream_gene_variant,,ENST00000593352,;ENTPD6,downstream_gene_variant,,ENST00000425813,;ENTPD6,downstream_gene_variant,,ENST00000439162,;ENTPD6,non_coding_transcript_exon_variant,,ENST00000485936,;ENTPD6,non_coding_transcript_exon_variant,,ENST00000471478,;ENTPD6,non_coding_transcript_exon_variant,,ENST00000481322,;ENTPD6,upstream_gene_variant,,ENST00000463734,;ENTPD6,upstream_gene_variant,,ENST00000490187,;	1241	35	51	SUCCESS
CTNNBL1	56259	.	GRCh37	20	36470822	36470822	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs766206506	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	74	0	ENST00000361383.6:c.1392+1G>A		p.X464_splice	ENST00000361383	NM_030877.4	464		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13298.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACGTATGT	NONE	byCluster	.	.	.	.	ENSP00000355050	.	.	.	.	.	.	.	.	.	.	rs766206506	.	PASS	ENST00000361383	Transcript	.	.	ENSG00000132792	15879	.	.	HIGH	13/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTBL1_HUMAN	CTNNBL1	HGNC	B4DE16_HUMAN,A2A2P1_HUMAN	.	UPI0000061E09	SNV	CTNNBL1,splice_donor_variant,,ENST00000405275,;CTNNBL1,splice_donor_variant,,ENST00000373469,;CTNNBL1,splice_donor_variant,,ENST00000361383,;CTNNBL1,splice_donor_variant,,ENST00000373473,;CTNNBL1,splice_donor_variant,,ENST00000472237,;CTNNBL1,splice_donor_variant,,ENST00000473857,;	.	74	82	SUCCESS
HELZ2	85441	.	GRCh37	20	62194883	62194883	+	synonymous_variant	Silent	SNP	C	C	T	rs760787217	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	16	0	ENST00000467148.1:c.5292G>A	p.Thr1764=	p.T1764=	ENST00000467148	NM_001037335.2	1764	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33508.1	5292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGTCTC	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332	.	.	ENSP00000417401	.	8/19	.	.	.	.	.	.	.	.	rs760787217	8/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,synonymous_variant,p.%3D,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,upstream_gene_variant,,ENST00000478861,;	5362	16	19	SUCCESS
EWSR1	2130	.	GRCh37	22	29695604	29695604	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	96	0	ENST00000397938.2:c.1694G>T	p.Arg565Ile	p.R565I	ENST00000397938	NM_001163286.1	565	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS13852.2	1709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGAGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238	.	.	ENSP00000400142	.	17/18	.	.	.	.	.	.	.	.	COSM3964184,COSM3842412,COSM3842411,COSM3964183	17/18	PASS	ENST00000414183	Transcript	.	.	ENSG00000182944	3508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	1,1,1,1	EWS_HUMAN	EWSR1	HGNC	.	.	UPI000006DE88	SNV	EWSR1,missense_variant,p.Arg564Ile,ENST00000406548,;EWSR1,missense_variant,p.Arg570Ile,ENST00000414183,;EWSR1,missense_variant,p.Arg492Ile,ENST00000332050,;EWSR1,missense_variant,p.Arg565Ile,ENST00000397938,;EWSR1,missense_variant,p.Arg509Ile,ENST00000332035,;EWSR1,missense_variant,p.Arg527Ile,ENST00000331029,;EWSR1,missense_variant,p.Arg217Ile,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;	1730	96	107	SUCCESS
HECW2	57520	.	GRCh37	2	197081786	197081786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	16	81	0	ENST00000260983.3:c.4440G>T	p.Trp1480Cys	p.W1480C	ENST00000260983	NM_020760.1	1480	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33354.1	4440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACCACCG	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000260983	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Trp1480Cys,ENST00000260983,;HECW2,missense_variant,p.Trp1124Cys,ENST00000409111,;snoU13,upstream_gene_variant,,ENST00000459047,;	4623	81	84	SUCCESS
CENPO	79172	.	GRCh37	2	25016357	25016357	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	60	0	ENST00000260662.1:c.-101C>T		p.*34*	ENST00000260662	NM_024322.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1714.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTCGCTTC	NONE	.	.	.	.	.	ENSP00000370214	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000380834	Transcript	.	.	ENSG00000138092	28152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPO_HUMAN	CENPO	HGNC	.	.	UPI000006F5F6	SNV	CENPO,synonymous_variant,p.%3D,ENST00000473706,;CENPO,5_prime_UTR_variant,,ENST00000260662,;CENPO,5_prime_UTR_variant,,ENST00000380834,;PTRHD1,upstream_gene_variant,,ENST00000328379,;CENPO,non_coding_transcript_exon_variant,,ENST00000473476,;CENPO,non_coding_transcript_exon_variant,,ENST00000498362,;PTRHD1,upstream_gene_variant,,ENST00000492046,;PTRHD1,upstream_gene_variant,,ENST00000474668,;PTRHD1,upstream_gene_variant,,ENST00000480190,;PTRHD1,upstream_gene_variant,,ENST00000487316,;CENPO,non_coding_transcript_exon_variant,,ENST00000491031,;CENPO,non_coding_transcript_exon_variant,,ENST00000486527,;PTRHD1,upstream_gene_variant,,ENST00000467797,;	344	60	86	SUCCESS
PPP1CB	5500	.	GRCh37	2	28974980	28974980	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs1197516941	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	71	0	ENST00000296122.6:c.-11G>T		p.*4*	ENST00000296122				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33169.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTGTGCCG	NONE	.	.	.	.	.	ENSP00000378769	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000395366	Transcript	.	.	ENSG00000213639	9282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP1B_HUMAN	PPP1CB	HGNC	E7ETD8_HUMAN,C9JP48_HUMAN,C9J9S3_HUMAN,C4TNW5_HUMAN,B4DJ75_HUMAN	.	UPI000000007B	SNV	PPP1CB,5_prime_UTR_variant,,ENST00000358506,;PPP1CB,5_prime_UTR_variant,,ENST00000395366,;PPP1CB,5_prime_UTR_variant,,ENST00000420282,;PPP1CB,5_prime_UTR_variant,,ENST00000296122,;PPP1CB,5_prime_UTR_variant,,ENST00000441461,;PPP1CB,intron_variant,,ENST00000455580,;PPP1CB,non_coding_transcript_exon_variant,,ENST00000464273,;PPP1CB,intron_variant,,ENST00000427786,;	262	71	71	SUCCESS
HEATR5B	54497	.	GRCh37	2	37295937	37295937	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	51	0	ENST00000233099.5:c.1064G>A	p.Arg355Gln	p.R355Q	ENST00000233099	NM_019024.1	355	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33181.1	1064	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCGTCTG	NONE	.	.	hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663,Gene3D:1.25.10.10	.	.	ENSP00000233099	.	8/36	.	.	.	.	.	.	.	.	.	8/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	tolerated(0.1)	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,missense_variant,p.Arg355Gln,ENST00000233099,;HEATR5B,missense_variant,p.Arg355Gln,ENST00000354531,;HEATR5B,downstream_gene_variant,,ENST00000478810,;	1160	51	60	SUCCESS
EPAS1	2034	.	GRCh37	2	46607602	46607603	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	31	0	ENST00000263734.3:c.1793_1794del	p.Glu598AlafsTer12	p.E598Afs*12	ENST00000263734	NM_001430.4	597	acAGag/acag	0	.	.	.	.	.	-	TE/TX	protein_coding	YES	CCDS1825.1	1791-1792	VARSCANI*|PINDEL	.	GAAGACAGAGCCC	NONE	.	.	hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF8	.	.	ENSP00000263734	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000263734	Transcript	.	.	ENSG00000116016	3374	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPAS1_HUMAN	EPAS1	HGNC	Q53SM6_HUMAN,C9J9N2_HUMAN,B3KW07_HUMAN	.	UPI000013D44F	deletion	EPAS1,frameshift_variant,p.Glu598AlafsTer12,ENST00000263734,;EPAS1,upstream_gene_variant,,ENST00000468530,;EPAS1,non_coding_transcript_exon_variant,,ENST00000466465,;EPAS1,upstream_gene_variant,,ENST00000465318,;EPAS1,downstream_gene_variant,,ENST00000483692,;	2301-2302	31	41	SUCCESS
NAGK	55577	.	GRCh37	2	71304745	71304745	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	46	0	ENST00000244204.6:c.823A>T	p.Ser275Cys	p.S275C	ENST00000244204		275	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS33220.2	961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAGCTGG	NONE	.	.	hmmpanther:PTHR12862:SF0,hmmpanther:PTHR12862,Pfam_domain:PF01869,Superfamily_domains:SSF53067	.	.	ENSP00000389087	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000455662	Transcript	.	.	ENSG00000124357	17174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NAGK_HUMAN	NAGK	HGNC	E9PPU6_HUMAN,C9JEV6_HUMAN	.	UPI0000E0753B	SNV	NAGK,missense_variant,p.Ser40Cys,ENST00000524537,;NAGK,missense_variant,p.Ser224Cys,ENST00000418807,;NAGK,missense_variant,p.Ser275Cys,ENST00000244204,;NAGK,missense_variant,p.Ser321Cys,ENST00000455662,;NAGK,missense_variant,p.Ser271Cys,ENST00000443938,;NAGK,missense_variant,p.Ser127Cys,ENST00000443872,;NAGK,downstream_gene_variant,,ENST00000529236,;NAGK,downstream_gene_variant,,ENST00000531934,;NAGK,downstream_gene_variant,,ENST00000533981,;NAGK,downstream_gene_variant,,ENST00000428360,;NAGK,3_prime_UTR_variant,,ENST00000450272,;NAGK,3_prime_UTR_variant,,ENST00000524736,;NAGK,non_coding_transcript_exon_variant,,ENST00000468601,;NAGK,non_coding_transcript_exon_variant,,ENST00000490998,;NAGK,non_coding_transcript_exon_variant,,ENST00000489309,;NAGK,non_coding_transcript_exon_variant,,ENST00000475709,;NAGK,non_coding_transcript_exon_variant,,ENST00000472519,;NAGK,non_coding_transcript_exon_variant,,ENST00000498022,;NAGK,downstream_gene_variant,,ENST00000455197,;NAGK,downstream_gene_variant,,ENST00000493102,;NAGK,downstream_gene_variant,,ENST00000484984,;NAGK,downstream_gene_variant,,ENST00000478659,;NAGK,downstream_gene_variant,,ENST00000464638,;NAGK,downstream_gene_variant,,ENST00000479854,;	1206	46	56	SUCCESS
KIAA1524	0	.	GRCh37	3	108281998	108281998	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	32	161	0	ENST00000295746.8:c.1609C>G	p.Pro537Ala	p.P537A	ENST00000295746	NM_020890.2	537	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS33812.1	1609	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGAGCAG	NONE	.	.	hmmpanther:PTHR23161:SF2,hmmpanther:PTHR23161	.	.	ENSP00000295746	.	13/21	.	.	.	.	.	.	.	.	COSM479196	13/21	PASS	ENST00000295746	Transcript	.	.	ENSG00000163507	29302	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.557)	.	deleterious(0.02)	1	CIP2A_HUMAN	KIAA1524	HGNC	.	.	UPI0000209EFF	SNV	KIAA1524,missense_variant,p.Pro537Ala,ENST00000295746,;KIAA1524,missense_variant,p.Pro378Ala,ENST00000491772,;KIAA1524,non_coding_transcript_exon_variant,,ENST00000487834,;KIAA1524,3_prime_UTR_variant,,ENST00000481530,;	1686	161	181	SUCCESS
ZBED2	79413	.	GRCh37	3	111312520	111312520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	40	0	ENST00000317012.4:c.529A>G	p.Arg177Gly	p.R177G	ENST00000317012	NM_024508.4	177	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS2960.2	529	MUTECT|MUSE	.	CTCCCTTTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000321370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317012	Transcript	.	.	ENSG00000177494	20710	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.815)	.	tolerated(0.06)	.	ZBED2_HUMAN	ZBED2	HGNC	.	.	UPI0000374509	SNV	ZBED2,missense_variant,p.Arg177Gly,ENST00000317012,;CD96,intron_variant,,ENST00000283285,;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	1538	40	62	SUCCESS
TF	7018	.	GRCh37	3	133465250	133465250	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	34	0	ENST00000402696.3:c.-35C>A		p.*12*	ENST00000402696	NM_001063.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3080.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCCGACTG	NONE	.	.	.	.	.	ENSP00000385834	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	SNV	TF,5_prime_UTR_variant,,ENST00000482271,;TF,5_prime_UTR_variant,,ENST00000402696,;TF,5_prime_UTR_variant,,ENST00000264998,;TF,intron_variant,,ENST00000466911,;TFP1,intron_variant,,ENST00000460564,;TF,upstream_gene_variant,,ENST00000475382,;TF,5_prime_UTR_variant,,ENST00000494430,;TF,5_prime_UTR_variant,,ENST00000485977,;TF,5_prime_UTR_variant,,ENST00000414694,;TF,non_coding_transcript_exon_variant,,ENST00000493011,;TF,non_coding_transcript_exon_variant,,ENST00000460531,;TF,non_coding_transcript_exon_variant,,ENST00000474287,;TF,upstream_gene_variant,,ENST00000498622,;	451	34	30	SUCCESS
ZIC4	84107	.	GRCh37	3	147113833	147113833	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	58	0	ENST00000383075.3:c.494G>C	p.Gly165Ala	p.G165A	ENST00000383075	NM_032153.5	165	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS54652.1	644	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCCGCCG	NONE	.	.	hmmpanther:PTHR19818	.	.	ENSP00000435509	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000525172	Transcript	.	.	ENSG00000174963	20393	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0.04)	.	ZIC4_HUMAN	ZIC4	HGNC	C9JZU7_HUMAN,C9JD04_HUMAN,C9J6T3_HUMAN,B3KPI4_HUMAN	.	UPI0001914D88	SNV	ZIC4,missense_variant,p.Gly203Ala,ENST00000425731,;ZIC4,missense_variant,p.Gly165Ala,ENST00000473123,;ZIC4,missense_variant,p.Gly165Ala,ENST00000383075,;ZIC4,missense_variant,p.Gly165Ala,ENST00000462748,;ZIC4,missense_variant,p.Gly215Ala,ENST00000525172,;ZIC4,missense_variant,p.Gly165Ala,ENST00000484399,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,intron_variant,,ENST00000491672,;ZIC4,downstream_gene_variant,,ENST00000463250,;ZIC4,downstream_gene_variant,,ENST00000484586,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000463850,;ZIC4,upstream_gene_variant,,ENST00000475502,;ZIC4,upstream_gene_variant,,ENST00000464502,;ZIC4,upstream_gene_variant,,ENST00000472749,;ZIC4,non_coding_transcript_exon_variant,,ENST00000493664,;ZIC4,upstream_gene_variant,,ENST00000494569,;	830	58	55	SUCCESS
HTR3C	170572	.	GRCh37	3	183772621	183772621	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs180785188	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	52	0	ENST00000318351.1:c.180C>A	p.Tyr60Ter	p.Y60*	ENST00000318351	NM_130770.2	60	taC/taA	0	.	T:0	.	T:0.0029	.	A	Y/*	protein_coding	YES	CCDS3250.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTACAGCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	T:0	.	ENSP00000322617	T:0	2/9	.	.	.	.	.	.	.	.	rs180785188	2/9	PASS	ENST00000318351	Transcript	.	T:0.0004	ENSG00000178084	24003	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	5HT3C_HUMAN	HTR3C	HGNC	.	.	UPI00001402D6	SNV	HTR3C,stop_gained,p.Tyr60Ter,ENST00000318351,;	214	52	73	SUCCESS
PLXNB1	5364	.	GRCh37	3	48451118	48451118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	8	68	0	ENST00000296440.6:c.5800G>T	p.Asp1934Tyr	p.D1934Y	ENST00000296440	NM_001130082.1	1934	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2765.1	5800	MUTECT|MUSE|VARSCANS	.	GTCATCCACGA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000351338	.	33/38	.	.	.	.	.	.	.	.	.	33/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,missense_variant,p.Asp1934Tyr,ENST00000358536,;PLXNB1,missense_variant,p.Asp1934Tyr,ENST00000296440,;PLXNB1,missense_variant,p.Asp1751Tyr,ENST00000358459,;PLXNB1,missense_variant,p.Asp545Tyr,ENST00000448774,;PLXNB1,missense_variant,p.Asp1751Tyr,ENST00000456774,;PLXNB1,downstream_gene_variant,,ENST00000465117,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000485535,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000478171,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000483676,;PLXNB1,downstream_gene_variant,,ENST00000461261,;PLXNB1,upstream_gene_variant,,ENST00000483753,;PLXNB1,downstream_gene_variant,,ENST00000467913,;PLXNB1,upstream_gene_variant,,ENST00000497627,;PLXNB1,downstream_gene_variant,,ENST00000449094,;PLXNB1,downstream_gene_variant,,ENST00000470525,;PLXNB1,downstream_gene_variant,,ENST00000473996,;	6070	68	85	SUCCESS
SLC38A3	10991	.	GRCh37	3	50257736	50257736	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	11	0	ENST00000420502.1:n.1795G>T		p.*599*	ENST00000420502				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GCCAGGCCCCA	NONE	.	.	.	.	.	.	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000420502	Transcript	.	.	ENSG00000188338	18044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SLC38A3	HGNC	.	.	.	SNV	SLC38A3,non_coding_transcript_exon_variant,,ENST00000541861,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000420502,;SLC38A3,downstream_gene_variant,,ENST00000445096,;SLC38A3,downstream_gene_variant,,ENST00000414604,;SLC38A3,downstream_gene_variant,,ENST00000417121,;SLC38A3,downstream_gene_variant,,ENST00000439524,;SLC38A3,downstream_gene_variant,,ENST00000417851,;	1795	11	10	SUCCESS
TKTL2	84076	.	GRCh37	4	164393739	164393739	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	68	0	ENST00000280605.3:c.1148G>T	p.Arg383Leu	p.R383L	ENST00000280605	NM_032136.4	383	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS3805.1	1148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCACGTGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF02779,Gene3D:3.40.50.970,SMART_domains:SM00861,Superfamily_domains:SSF52518	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0.02)	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,missense_variant,p.Arg383Leu,ENST00000280605,;	1309	68	55	SUCCESS
WDR17	116966	.	GRCh37	4	177041041	177041041	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	19	165	0	ENST00000280190.4:c.403T>C	p.Cys135Arg	p.C135R	ENST00000280190		135	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS3825.1	403	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTGCTGG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000280190	.	5/31	.	.	.	.	.	.	.	.	.	5/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.526)	.	deleterious(0.01)	.	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Cys135Arg,ENST00000507824,;WDR17,missense_variant,p.Cys9Arg,ENST00000505894,;WDR17,missense_variant,p.Cys135Arg,ENST00000280190,;WDR17,missense_variant,p.Cys111Arg,ENST00000508596,;WDR17,missense_variant,p.Cys111Arg,ENST00000393643,;WDR17,synonymous_variant,p.%3D,ENST00000513261,;	559	165	162	SUCCESS
FAM184B	27146	.	GRCh37	4	17711179	17711179	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	52	0	ENST00000265018.3:c.230C>T	p.Ala77Val	p.A77V	ENST00000265018	NM_015688.1	77	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47033.1	230	MUTECT|MUSE	.	CCACCGCATTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870	.	.	ENSP00000265018	.	2/18	.	.	.	.	.	.	.	.	COSM3428356	2/18	PASS	ENST00000265018	Transcript	.	.	ENSG00000047662	29235	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.019)	.	tolerated(0.17)	1	F184B_HUMAN	FAM184B	HGNC	.	.	UPI000020BD7C	SNV	FAM184B,missense_variant,p.Ala77Val,ENST00000265018,;	443	52	37	SUCCESS
WDR19	57728	.	GRCh37	4	39246144	39246144	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	80	0	ENST00000399820.3:c.2617G>T	p.Ala873Ser	p.A873S	ENST00000399820	NM_025132.3	873	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47042.1	2617	MUTECT|MUSE	.	AAGCAGCATCT	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	.	.	ENSP00000382717	.	23/37	.	.	.	.	.	.	.	.	.	23/37	PASS	ENST00000399820	Transcript	1	.	ENSG00000157796	18340	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,missense_variant,p.Ala713Ser,ENST00000288634,;WDR19,missense_variant,p.Ala873Ser,ENST00000399820,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,downstream_gene_variant,,ENST00000507228,;	2771	80	87	SUCCESS
KIAA1211	0	.	GRCh37	4	57180856	57180856	+	synonymous_variant	Silent	SNP	G	G	A	rs1038038281	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	23	0	ENST00000504228.1:c.1188G>A	p.Ala396=	p.A396=	ENST00000504228		396	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43230.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	.	.	ENSP00000423366	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,synonymous_variant,p.%3D,ENST00000504228,;KIAA1211,synonymous_variant,p.%3D,ENST00000264229,;KIAA1211,synonymous_variant,p.%3D,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	1293	23	38	SUCCESS
SLCO4C1	353189	.	GRCh37	5	101592902	101592902	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	68	254	0	ENST00000310954.6:c.1386A>G	p.Gly462=	p.G462=	ENST00000310954	NM_180991.4	462	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS34205.1	1386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACTCCAGA	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388:SF81,hmmpanther:PTHR11388,PROSITE_profiles:PS50850	.	.	ENSP00000309741	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000310954	Transcript	.	.	ENSG00000173930	23612	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO4C1_HUMAN	SLCO4C1	HGNC	Q63HP3_HUMAN	.	UPI00001C10B6	SNV	SLCO4C1,synonymous_variant,p.%3D,ENST00000310954,;	1673	254	328	SUCCESS
CWC27	10283	.	GRCh37	5	64079679	64079679	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751858333	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	66	0	ENST00000381070.3:c.269G>T	p.Arg90Leu	p.R90L	ENST00000381070	NM_005869.2	90	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3982.2	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGGTTGC	NONE	.	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF152,Pfam_domain:PF00160,Gene3D:2.40.100.10,Superfamily_domains:SSF50891	.	.	ENSP00000370460	.	4/14	.	.	.	.	.	.	.	.	rs751858333,COSM272557	4/14	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,missense_variant,p.Arg90Leu,ENST00000381070,;CWC27,missense_variant,p.Arg90Leu,ENST00000508024,;CWC27,non_coding_transcript_exon_variant,,ENST00000485990,;	486	66	72	SUCCESS
VCAN	1462	.	GRCh37	5	82836639	82836639	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	68	0	ENST00000265077.3:c.7817A>G	p.His2606Arg	p.H2606R	ENST00000265077	NM_004385.4	2606	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS4060.1	7817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACATGACA	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.27)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.His2606Arg,ENST00000265077,;VCAN,missense_variant,p.His1619Arg,ENST00000343200,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	8382	68	68	SUCCESS
MYB	4602	.	GRCh37	6	135515497	135515497	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	57	0	ENST00000367814.4:c.847C>A	p.His283Asn	p.H283N	ENST00000367814	NM_001161659.1	283	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS47481.1	847	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACACTAT	NONE	.	.	hmmpanther:PTHR10641:SF454,hmmpanther:PTHR10641,Pfam_domain:PF07988	.	.	ENSP00000339992	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000341911	Transcript	.	.	ENSG00000118513	7545	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.966)	.	tolerated(0.21)	.	MYB_HUMAN	MYB	HGNC	Q9UMI7_HUMAN	.	UPI000002AE9A	SNV	MYB,missense_variant,p.His283Asn,ENST00000527615,;MYB,missense_variant,p.His283Asn,ENST00000525369,;MYB,missense_variant,p.His283Asn,ENST00000442647,;MYB,missense_variant,p.His283Asn,ENST00000528774,;MYB,missense_variant,p.His237Asn,ENST00000430686,;MYB,missense_variant,p.His283Asn,ENST00000534044,;MYB,missense_variant,p.His283Asn,ENST00000534121,;MYB,missense_variant,p.His283Asn,ENST00000316528,;MYB,missense_variant,p.His283Asn,ENST00000367814,;MYB,missense_variant,p.His259Asn,ENST00000420123,;MYB,missense_variant,p.His283Asn,ENST00000341911,;MYB,intron_variant,,ENST00000533624,;MYB-AS1,downstream_gene_variant,,ENST00000455534,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,missense_variant,p.His283Asn,ENST00000533384,;MYB,missense_variant,p.His283Asn,ENST00000526320,;MYB,missense_variant,p.His283Asn,ENST00000525514,;MYB,missense_variant,p.His283Asn,ENST00000367812,;MYB,missense_variant,p.His283Asn,ENST00000339290,;MYB,missense_variant,p.His283Asn,ENST00000526187,;MYB,missense_variant,p.His283Asn,ENST00000529262,;MYB,missense_variant,p.His283Asn,ENST00000525002,;MYB,missense_variant,p.His283Asn,ENST00000526565,;MYB,missense_variant,p.His283Asn,ENST00000528343,;MYB,missense_variant,p.His283Asn,ENST00000529586,;MYB,missense_variant,p.His283Asn,ENST00000438901,;MYB,missense_variant,p.His283Asn,ENST00000533837,;MYB,missense_variant,p.His283Asn,ENST00000463282,;MYB,missense_variant,p.His283Asn,ENST00000525477,;MYB,missense_variant,p.His283Asn,ENST00000533808,;MYB,missense_variant,p.His283Asn,ENST00000528140,;MYB,missense_variant,p.His283Asn,ENST00000525940,;MYB,missense_variant,p.His259Asn,ENST00000528345,;MYB,missense_variant,p.His283Asn,ENST00000531519,;MYB,missense_variant,p.His283Asn,ENST00000528015,;MYB,missense_variant,p.His283Asn,ENST00000526889,;MYB,missense_variant,p.His283Asn,ENST00000531737,;MYB,3_prime_UTR_variant,,ENST00000524588,;MYB,3_prime_UTR_variant,,ENST00000531634,;MYB,upstream_gene_variant,,ENST00000534736,;	1046	57	59	SUCCESS
ABCC10	89845	.	GRCh37	6	43401071	43401071	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367899886	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	45	0	ENST00000372530.4:c.1353G>A	p.Met451Ile	p.M451I	ENST00000372530	NM_001198934.1	451	atG/atA	0	A:0	.	.	.	.	A	M/I	protein_coding	YES	CCDS56430.1	1353	RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGCTACA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	A:0.0001	ENSP00000361608	.	3/22	.	.	.	.	.	.	.	.	rs367899886	3/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,missense_variant,p.Met451Ile,ENST00000372530,;ABCC10,missense_variant,p.Met7Ile,ENST00000372515,;ABCC10,missense_variant,p.Met408Ile,ENST00000244533,;ABCC10,non_coding_transcript_exon_variant,,ENST00000443426,;ABCC10,downstream_gene_variant,,ENST00000502549,;ABCC10,upstream_gene_variant,,ENST00000463024,;	1568	45	60	SUCCESS
COL12A1	1303	.	GRCh37	6	75887438	75887438	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759182254	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	24	132	0	ENST00000322507.8:c.2378T>C	p.Ile793Thr	p.I793T	ENST00000322507	NM_004370.5	793	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS43482.1	2378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAATTACA	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	12/66	.	.	.	.	.	.	.	.	rs759182254	12/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Ile793Thr,ENST00000416123,;COL12A1,missense_variant,p.Ile793Thr,ENST00000322507,;COL12A1,missense_variant,p.Ile793Thr,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;	2688	132	129	SUCCESS
LCA5	167691	.	GRCh37	6	80197406	80197406	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	47	232	0	ENST00000369846.4:c.1409A>G	p.Lys470Arg	p.K470R	ENST00000369846	NM_001122769.2	470	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS4990.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTTTAGCA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16650:SF8,hmmpanther:PTHR16650	.	.	ENSP00000376686	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.06)	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,missense_variant,p.Lys470Arg,ENST00000369846,;LCA5,missense_variant,p.Lys470Arg,ENST00000392959,;LCA5,downstream_gene_variant,,ENST00000467898,;	2021	232	217	SUCCESS
SNAP91	9892	.	GRCh37	6	84270663	84270663	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	106	1	ENST00000369694.2:c.2446G>T	p.Gly816Ter	p.G816*	ENST00000369694	NM_001242792.1	816	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS47455.1	2446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCTTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,stop_gained,p.Gly816Ter,ENST00000439399,;SNAP91,stop_gained,p.Gly811Ter,ENST00000195649,;SNAP91,stop_gained,p.Gly157Ter,ENST00000523448,;SNAP91,stop_gained,p.Gly509Ter,ENST00000437520,;SNAP91,stop_gained,p.Gly811Ter,ENST00000521485,;SNAP91,stop_gained,p.Gly786Ter,ENST00000520302,;SNAP91,stop_gained,p.Gly816Ter,ENST00000428679,;SNAP91,stop_gained,p.Gly509Ter,ENST00000520213,;SNAP91,stop_gained,p.Gly816Ter,ENST00000369694,;SNAP91,stop_gained,p.Gly816Ter,ENST00000521743,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	2763	107	114	SUCCESS
KIAA1549	57670	.	GRCh37	7	138603314	138603314	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768378359	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	30	0	ENST00000422774.1:c.1058C>T	p.Ala353Val	p.A353V	ENST00000422774		353	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS56513.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGCAAGG	NONE	byFrequency	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	.	.	ENSP00000416040	.	2/20	.	.	.	.	.	.	.	.	rs768378359	2/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.15)	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,missense_variant,p.Ala353Val,ENST00000422774,;KIAA1549,missense_variant,p.Ala303Val,ENST00000242365,;KIAA1549,missense_variant,p.Ala353Val,ENST00000440172,;	1107	30	51	SUCCESS
OR2A5	393046	.	GRCh37	7	143748366	143748366	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	29	0	ENST00000408906.2:c.872G>T	p.Ser291Ile	p.S291I	ENST00000408906	NM_012365.1	291	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43668.1	872	RADIA|MUTECT|MUSE|VARSCANS	.	CTATAGCCTGA	BUFFER|p.R293R|c.879G>A|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000386208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408906	Transcript	.	.	ENSG00000221836	8232	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	OR2A5_HUMAN	OR2A5	HGNC	.	.	UPI0000061F52	SNV	OR2A5,missense_variant,p.Ser291Ile,ENST00000408906,;	906	29	31	SUCCESS
ANGPT1	284	.	GRCh37	8	108348431	108348431	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	30	123	0	ENST00000517746.1:c.522G>C	p.Glu174Asp	p.E174D	ENST00000517746	NM_001199859.1	174	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS6306.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCTCTAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156	.	.	ENSP00000428340	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000517746	Transcript	.	.	ENSG00000154188	484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ANGP1_HUMAN	ANGPT1	HGNC	E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN	.	UPI0000034766	SNV	ANGPT1,missense_variant,p.Glu174Asp,ENST00000517746,;ANGPT1,missense_variant,p.Glu174Asp,ENST00000297450,;ANGPT1,5_prime_UTR_variant,,ENST00000520734,;ANGPT1,5_prime_UTR_variant,,ENST00000520052,;	974	123	147	SUCCESS
PLAG1	5324	.	GRCh37	8	57080762	57080762	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144724863	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	8	97	0	ENST00000316981.3:c.67C>T	p.Arg23Cys	p.R23C	ENST00000316981	NM_002655.2	23	Cgt/Tgt	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS6165.1	67	MUTECT|MUSE|VARSCANS	.	CTTACGTTTCC	NONE	byCluster	.	hmmpanther:PTHR10032:SF124,hmmpanther:PTHR10032	.	A:0	ENSP00000325546	.	4/5	.	.	.	.	.	.	.	.	rs144724863,COSM177692	4/5	PASS	ENST00000316981	Transcript	1	.	ENSG00000181690	9045	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.973)	.	tolerated(0.09)	0,1	PLAG1_HUMAN	PLAG1	HGNC	A7IT80_HUMAN,A7IT79_HUMAN	.	UPI000013FF2F	SNV	PLAG1,missense_variant,p.Arg23Cys,ENST00000316981,;PLAG1,missense_variant,p.Arg23Cys,ENST00000429357,;PLAG1,intron_variant,,ENST00000423799,;PLAG1,non_coding_transcript_exon_variant,,ENST00000522009,;	547	97	90	SUCCESS
PREX2	80243	.	GRCh37	8	68864764	68864764	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	11	87	0	ENST00000288368.4:c.135G>T	p.Leu45=	p.L45=	ENST00000288368	NM_024870.2	45	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6201.1	135	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGGTGTC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000288368	.	1/40	.	.	.	.	.	.	.	.	.	1/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	412	87	99	SUCCESS
DDX58	23586	.	GRCh37	9	32489378	32489378	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs921634647	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	23	119	0	ENST00000379883.2:c.763A>G	p.Met255Val	p.M255V	ENST00000379883	NM_014314.3	255	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS6526.1	763	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATAGCAG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000369213	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000379883	Transcript	.	.	ENSG00000107201	19102	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.43)	.	DDX58_HUMAN	DDX58	HGNC	A2A376_HUMAN	.	UPI000013C841	SNV	DDX58,missense_variant,p.Met52Val,ENST00000545044,;DDX58,missense_variant,p.Met184Val,ENST00000542096,;DDX58,missense_variant,p.Met255Val,ENST00000379883,;DDX58,missense_variant,p.Met52Val,ENST00000379868,;DDX58,missense_variant,p.Met210Val,ENST00000379882,;	921	119	174	SUCCESS
DOCK8	81704	.	GRCh37	9	371468	371468	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771347031	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	19	101	0	ENST00000432829.2:c.1705G>T	p.Ala569Ser	p.A569S	ENST00000432829	NM_203447.3	569	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6440.2	1909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGCTAAG	NONE	byFrequency	.	PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Pfam_domain:PF14429	.	.	ENSP00000408464	.	17/48	.	.	.	.	.	.	.	.	rs771347031,COSM3930064,COSM3930063	17/48	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0.03)	0,1,1	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Ala569Ser,ENST00000432829,;DOCK8,missense_variant,p.Ala637Ser,ENST00000453981,;DOCK8,missense_variant,p.Ala569Ser,ENST00000469391,;DOCK8,missense_variant,p.Ala104Ser,ENST00000382329,;DOCK8,intron_variant,,ENST00000382331,;DOCK8,3_prime_UTR_variant,,ENST00000483757,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	2021	101	111	SUCCESS
S1PR3	1903	.	GRCh37	9	91616133	91616133	+	synonymous_variant	Silent	SNP	G	G	A	rs1410965214	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	38	0	ENST00000358157.2:c.18G>A	p.Pro6=	p.P6=	ENST00000358157	NM_005226.3	6	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6680.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGCCGCG	NONE	.	.	hmmpanther:PTHR22750:SF24,hmmpanther:PTHR22750	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,synonymous_variant,p.%3D,ENST00000358157,;S1PR3,synonymous_variant,p.%3D,ENST00000375846,;	4713	38	44	SUCCESS
GPR112	0	.	GRCh37	X	135441570	135441570	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	58	105	0	ENST00000370652.1:c.7100T>C	p.Leu2367Ser	p.L2367S	ENST00000370652		2367	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS35409.1	7100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATTGACGT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Leu2367Ser,ENST00000370652,;GPR112,missense_variant,p.Leu2367Ser,ENST00000394143,;GPR112,missense_variant,p.Leu2162Ser,ENST00000394141,;GPR112,missense_variant,p.Leu2162Ser,ENST00000412101,;GPR112,intron_variant,,ENST00000287534,;	7391	105	154	SUCCESS
RAI2	10742	.	GRCh37	X	17819379	17819379	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748047813	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	49	0	ENST00000331511.1:c.752C>T	p.Pro251Leu	p.P251L	ENST00000331511		251	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14183.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCGGGATG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF3	.	.	ENSP00000444210	.	3/3	.	.	.	.	.	.	.	.	rs748047813	3/3	PASS	ENST00000545871	Transcript	.	.	ENSG00000131831	9835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	RAI2_HUMAN	RAI2	HGNC	.	.	UPI000013CE19	SNV	RAI2,missense_variant,p.Pro251Leu,ENST00000331511,;RAI2,missense_variant,p.Pro251Leu,ENST00000360011,;RAI2,missense_variant,p.Pro251Leu,ENST00000451717,;RAI2,missense_variant,p.Pro201Leu,ENST00000415486,;RAI2,missense_variant,p.Pro251Leu,ENST00000545871,;RAI2,downstream_gene_variant,,ENST00000509491,;	1213	49	58	SUCCESS
PTCHD1	139411	.	GRCh37	X	23398175	23398175	+	synonymous_variant	Silent	SNP	C	C	A	rs769884877	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	46	0	ENST00000379361.4:c.819C>A	p.Val273=	p.V273=	ENST00000379361	NM_173495.2	273	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS35215.2	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCACCAG	NONE	byFrequency	.	Superfamily_domains:SSF82866,Pfam_domain:PF02460,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36,PROSITE_profiles:PS50156,Transmembrane_helices:TMhelix	.	.	ENSP00000368666	.	2/3	.	.	.	.	.	.	.	.	rs769884877	2/3	PASS	ENST00000379361	Transcript	.	.	ENSG00000165186	26392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHD1_HUMAN	PTCHD1	HGNC	.	.	UPI000059DAD8	SNV	PTCHD1,synonymous_variant,p.%3D,ENST00000379361,;PTCHD1,intron_variant,,ENST00000456522,;	1679	46	55	SUCCESS
FFAR4	338557	.	GRCh37	10	95326941	95326941	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs567274570	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	54	0	ENST00000371483.4:c.464G>T	p.Arg155Leu	p.R155L	ENST00000371483	NM_181745.3	155	cGg/cTg	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS31248.1	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGGGCAG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF67,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	A:0	.	ENSP00000360538	A:0	1/4	.	.	.	.	.	.	.	.	rs567274570,COSM4016757	1/4	PASS	ENST00000371483	Transcript	1	A:0.0004	ENSG00000186188	19061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	A:0.002	tolerated(0.48)	0,1	FFAR4_HUMAN	FFAR4	HGNC	.	.	UPI00001C1EE5	SNV	FFAR4,missense_variant,p.Arg155Leu,ENST00000371481,;FFAR4,missense_variant,p.Arg155Leu,ENST00000371483,;FFAR4,missense_variant,p.Arg155Leu,ENST00000604414,;	520	54	44	SUCCESS
ENTPD1	953	.	GRCh37	10	97599472	97599472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	45	205	1	ENST00000371205.4:c.169T>C	p.Ser57Pro	p.S57P	ENST00000371205		57	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS53556.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTTCTTCT	NONE	.	.	hmmpanther:PTHR11782:SF32,hmmpanther:PTHR11782,Pfam_domain:PF01150	.	.	ENSP00000360250	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000371207	Transcript	1	.	ENSG00000138185	3363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ENTP1_HUMAN	ENTPD1	HGNC	.	.	UPI0000EE3B3A	SNV	ENTPD1,missense_variant,p.Ser64Pro,ENST00000453258,;ENTPD1,missense_variant,p.Ser57Pro,ENST00000371205,;ENTPD1,missense_variant,p.Ser69Pro,ENST00000371207,;ENTPD1,5_prime_UTR_variant,,ENST00000543964,;ENTPD1,5_prime_UTR_variant,,ENST00000371203,;ENTPD1,intron_variant,,ENST00000539125,;ENTPD1-AS1,intron_variant,,ENST00000416301,;RP11-429G19.3,intron_variant,,ENST00000433113,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000490659,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000461927,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000483213,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000494070,;ENTPD1,upstream_gene_variant,,ENST00000422161,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000371206,;	268	206	149	SUCCESS
CASP4	837	.	GRCh37	11	104819259	104819259	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs144482787	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	66	0	ENST00000444739.2:c.925+1G>T		p.X309_splice	ENST00000444739	NM_001225.3	309		0	T:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS8327.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACGTGGC	NONE	byCluster	.	.	.	T:0	ENSP00000388566	.	.	.	.	.	.	.	.	.	.	rs144482787	.	PASS	ENST00000444739	Transcript	.	.	ENSG00000196954	1505	.	.	HIGH	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASP4_HUMAN	CASP4	HGNC	Q7KYX7_HUMAN,E9PMT1_HUMAN	.	UPI000003AEFA	SNV	CASP4,splice_donor_variant,,ENST00000393150,;CASP4,splice_donor_variant,,ENST00000444739,;CASP4,downstream_gene_variant,,ENST00000417440,;CASP4,upstream_gene_variant,,ENST00000533252,;CASP4,downstream_gene_variant,,ENST00000531333,;CASP4,downstream_gene_variant,,ENST00000529183,;CASP4,splice_donor_variant,,ENST00000534356,;CASP4,splice_donor_variant,,ENST00000533730,;CASP4,splice_donor_variant,,ENST00000525116,;CASP4,non_coding_transcript_exon_variant,,ENST00000529565,;CASP4,downstream_gene_variant,,ENST00000531546,;CASP4,downstream_gene_variant,,ENST00000524843,;CASP4,upstream_gene_variant,,ENST00000530309,;	.	66	43	SUCCESS
ARCN1	372	.	GRCh37	11	118452209	118452209	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	67	0	ENST00000264028.4:c.252G>A	p.Arg84=	p.R84=	ENST00000264028	NM_001655.4	84	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8400.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGGCTCTT	NONE	.	.	hmmpanther:PTHR10121,hmmpanther:PTHR10121:SF0,Pfam_domain:PF01217,Gene3D:3.30.450.60,Superfamily_domains:SSF64356	.	.	ENSP00000264028	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000264028	Transcript	.	.	ENSG00000095139	649	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPD_HUMAN	ARCN1	HGNC	B0YIW5_HUMAN	.	UPI0000127ED7	SNV	ARCN1,synonymous_variant,p.%3D,ENST00000264028,;ARCN1,synonymous_variant,p.%3D,ENST00000359415,;ARCN1,intron_variant,,ENST00000534182,;ARCN1,intron_variant,,ENST00000392859,;	347	67	52	SUCCESS
ZNF195	7748	.	GRCh37	11	3380429	3380429	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	93	1	ENST00000399602.4:c.1809G>T	p.Glu603Asp	p.E603D	ENST00000399602	NM_001130520.2	603	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS44522.1	1809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCTCTCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF87,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000382511	.	6/6	.	.	.	.	.	.	.	.	COSM926561,COSM1585715	6/6	PASS	ENST00000399602	Transcript	.	.	ENSG00000005801	12986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.768)	.	deleterious(0.03)	1,1	ZN195_HUMAN	ZNF195	HGNC	.	.	UPI0000D6258D	SNV	ZNF195,missense_variant,p.Glu584Asp,ENST00000526601,;ZNF195,missense_variant,p.Glu535Asp,ENST00000429541,;ZNF195,missense_variant,p.Glu531Asp,ENST00000354599,;ZNF195,missense_variant,p.Glu603Asp,ENST00000399602,;ZNF195,missense_variant,p.Glu535Asp,ENST00000343338,;ZNF195,missense_variant,p.Glu580Asp,ENST00000005082,;ZNF195,intron_variant,,ENST00000528796,;ZNF195,downstream_gene_variant,,ENST00000528410,;ZNF195,downstream_gene_variant,,ENST00000438262,;ZNF195,downstream_gene_variant,,ENST00000529678,;ZNF195,downstream_gene_variant,,ENST00000534569,;ZNF195,downstream_gene_variant,,ENST00000533036,;ZNF195,downstream_gene_variant,,ENST00000427810,;ZNF195,downstream_gene_variant,,ENST00000528636,;ZNF195,downstream_gene_variant,,ENST00000524857,;ZNF195,downstream_gene_variant,,ENST00000330692,;ZNF195,downstream_gene_variant,,ENST00000530643,;ZNF195,downstream_gene_variant,,ENST00000526540,;ZNF195,downstream_gene_variant,,ENST00000529228,;ZNF195,downstream_gene_variant,,ENST00000526598,;ZNF195,downstream_gene_variant,,ENST00000528218,;ZNF195,downstream_gene_variant,,ENST00000529789,;ZNF195,downstream_gene_variant,,ENST00000525313,;	1936	94	77	SUCCESS
RASGRP2	10235	.	GRCh37	11	64504439	64504439	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	59	0	ENST00000354024.3:c.881C>A	p.Ala294Glu	p.A294E	ENST00000354024	NM_153819.1	294	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS31598.1	881	MUTECT|MUSE	.	AGGCTGCCAGC	NONE	.	.	Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR23113:SF16,hmmpanther:PTHR23113,PROSITE_profiles:PS50009	.	.	ENSP00000338864	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000354024	Transcript	.	.	ENSG00000068831	9879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.223)	.	deleterious(0.03)	.	GRP2_HUMAN	RASGRP2	HGNC	Q2YDB1_HUMAN,E7EM78_HUMAN,C9JZ82_HUMAN,A6NHE2_HUMAN	.	UPI0000161186	SNV	RASGRP2,missense_variant,p.Ala294Glu,ENST00000354024,;RASGRP2,missense_variant,p.Ala294Glu,ENST00000394432,;RASGRP2,missense_variant,p.Ala294Glu,ENST00000377494,;RASGRP2,missense_variant,p.Ala294Glu,ENST00000377497,;RASGRP2,downstream_gene_variant,,ENST00000394429,;RASGRP2,downstream_gene_variant,,ENST00000377489,;RASGRP2,downstream_gene_variant,,ENST00000377486,;RASGRP2,downstream_gene_variant,,ENST00000430645,;RASGRP2,downstream_gene_variant,,ENST00000377485,;RASGRP2,downstream_gene_variant,,ENST00000394428,;RASGRP2,downstream_gene_variant,,ENST00000431822,;RASGRP2,downstream_gene_variant,,ENST00000394430,;RASGRP2,downstream_gene_variant,,ENST00000377487,;RASGRP2,3_prime_UTR_variant,,ENST00000421556,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000464324,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000494001,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000465852,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000497441,;RASGRP2,upstream_gene_variant,,ENST00000488071,;RASGRP2,downstream_gene_variant,,ENST00000445445,;RASGRP2,downstream_gene_variant,,ENST00000441258,;	1134	60	53	SUCCESS
CFL1	1072	.	GRCh37	11	65623665	65623665	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	71	0	ENST00000308162.5:c.52A>T	p.Met18Leu	p.M18L	ENST00000308162	NM_005507.2	18	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS8114.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATGTCGT	NONE	.	.	Prints_domain:PR00006,Superfamily_domains:SSF55753,Gene3D:3.40.20.10,hmmpanther:PTHR11913:SF17,hmmpanther:PTHR11913,PROSITE_profiles:PS51263	.	.	ENSP00000432660	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000525451	Transcript	.	.	ENSG00000172757	1874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.11)	.	COF1_HUMAN	CFL1	HGNC	G3V1A4_HUMAN,E9PS23_HUMAN,E9PQB7_HUMAN,E9PP50_HUMAN,E9PLJ3_HUMAN	.	UPI0000127E2C	SNV	CFL1,start_lost,p.Met1?,ENST00000531407,;CFL1,start_lost,p.Met1?,ENST00000530413,;CFL1,start_lost,p.Met1?,ENST00000527344,;CFL1,start_lost,p.Met1?,ENST00000534784,;CFL1,start_lost,p.Met1?,ENST00000531413,;CFL1,start_lost,p.Met1?,ENST00000524553,;CFL1,missense_variant,p.Met56Leu,ENST00000534769,;CFL1,missense_variant,p.Met18Leu,ENST00000308162,;CFL1,missense_variant,p.Met18Leu,ENST00000526975,;CFL1,missense_variant,p.Met18Leu,ENST00000532134,;CFL1,missense_variant,p.Met18Leu,ENST00000525451,;MUS81,upstream_gene_variant,,ENST00000533035,;MUS81,upstream_gene_variant,,ENST00000529857,;SNX32,downstream_gene_variant,,ENST00000308342,;MUS81,upstream_gene_variant,,ENST00000525768,;MUS81,upstream_gene_variant,,ENST00000308110,;MUS81,upstream_gene_variant,,ENST00000529374,;CFL1,intron_variant,,ENST00000527752,;SNX32,non_coding_transcript_exon_variant,,ENST00000530101,;CFL1,non_coding_transcript_exon_variant,,ENST00000530945,;SNX32,downstream_gene_variant,,ENST00000526972,;SNX32,downstream_gene_variant,,ENST00000533236,;MUS81,upstream_gene_variant,,ENST00000524647,;	768	71	58	SUCCESS
C11orf54	28970	.	GRCh37	11	93494680	93494680	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs1196671772	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	34	120	0	ENST00000331239.4:c.775-1G>A		p.X259_splice	ENST00000331239	NM_001286070.1	259		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8294.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGGGGTT	NONE	.	.	.	.	.	ENSP00000433721	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000528288	Transcript	.	.	ENSG00000182919	30204	.	.	HIGH	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK054_HUMAN	C11orf54	HGNC	E9PSC3_HUMAN,E9PR95_HUMAN,E9PLC5_HUMAN,E9PLB3_HUMAN	.	UPI00000727BD	SNV	C11orf54,splice_acceptor_variant,,ENST00000533154,;C11orf54,splice_acceptor_variant,,ENST00000331239,;C11orf54,splice_acceptor_variant,,ENST00000528288,;C11orf54,splice_acceptor_variant,,ENST00000540113,;C11orf54,splice_acceptor_variant,,ENST00000528099,;C11orf54,splice_acceptor_variant,,ENST00000354421,;TAF1D,intron_variant,,ENST00000527690,;C11orf54,downstream_gene_variant,,ENST00000531650,;C11orf54,downstream_gene_variant,,ENST00000530620,;	.	120	126	SUCCESS
KDM5A	5927	.	GRCh37	12	443421	443421	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	134	0	ENST00000399788.2:c.1476C>G	p.Ile492Met	p.I492M	ENST00000399788	NM_001042603.1	492	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS41736.1	1476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTGATGGA	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000382688	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000399788	Transcript	.	.	ENSG00000073614	9886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KDM5A_HUMAN	KDM5A	HGNC	.	.	UPI0000DB2E73	SNV	KDM5A,missense_variant,p.Ile492Met,ENST00000382815,;KDM5A,missense_variant,p.Ile111Met,ENST00000544760,;KDM5A,missense_variant,p.Ile492Met,ENST00000399788,;KDM5A,non_coding_transcript_exon_variant,,ENST00000544777,;	1839	134	74	SUCCESS
LARP4	113251	.	GRCh37	12	50869602	50869602	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	127	0	ENST00000398473.2:c.2130A>G	p.Arg710=	p.R710=	ENST00000398473	NM_199188.2	710	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS41782.1	2130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGACGTAA	NONE	.	.	hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792	.	.	ENSP00000381490	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000398473	Transcript	.	.	ENSG00000161813	24320	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LARP4_HUMAN	LARP4	HGNC	Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN	.	UPI00002293C3	SNV	LARP4,synonymous_variant,p.%3D,ENST00000520064,;LARP4,synonymous_variant,p.%3D,ENST00000398473,;LARP4,synonymous_variant,p.%3D,ENST00000293618,;LARP4,synonymous_variant,p.%3D,ENST00000347328,;LARP4,synonymous_variant,p.%3D,ENST00000429001,;LARP4,synonymous_variant,p.%3D,ENST00000518444,;	2242	127	82	SUCCESS
MYF5	4617	.	GRCh37	12	81112792	81112792	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	76	0	ENST00000228644.3:c.733del	p.Ala245LeufsTer19	p.A245Lfs*19	ENST00000228644	NM_005593.2	244	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS9020.1	730	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCCAGGGGCT	NONE	.	.	hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF3	.	.	ENSP00000228644	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000228644	Transcript	.	.	ENSG00000111049	7565	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYF5_HUMAN	MYF5	HGNC	.	.	UPI000013C8D9	deletion	MYF5,frameshift_variant,p.Ala245LeufsTer19,ENST00000228644,;	882	76	87	SUCCESS
COL4A2	1284	.	GRCh37	13	111141810	111141810	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	99	0	ENST00000360467.5:c.3226G>C	p.Gly1076Arg	p.G1076R	ENST00000360467	NM_001846.2	1076	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS41907.1	3226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGGAGA	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	.	.	ENSP00000353654	.	35/48	.	.	.	.	.	.	.	.	.	35/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,missense_variant,p.Gly1076Arg,ENST00000360467,;COL4A2,downstream_gene_variant,,ENST00000483683,;	3532	99	60	SUCCESS
SLC7A7	9056	.	GRCh37	14	23242904	23242904	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs773635994	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	74	0	ENST00000285850.7:c.1451A>C	p.Gln484Pro	p.Q484P	ENST00000285850		484	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS9574.1	1451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCTGGAGG	NONE	.	.	PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785:SF303,hmmpanther:PTHR11785	.	.	ENSP00000380666	.	10/10	.	.	.	.	.	.	.	.	rs773635994	10/10	PASS	ENST00000397532	Transcript	.	.	ENSG00000155465	11065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	YLAT1_HUMAN	SLC7A7	HGNC	G3V5W2_HUMAN,G3V5A1_HUMAN,G3V4Z6_HUMAN,G3V4U1_HUMAN,G3V362_HUMAN,G3V2L0_HUMAN,G3V2H8_HUMAN,G3V273_HUMAN,D6RFE5_HUMAN	.	UPI000000CC04	SNV	SLC7A7,missense_variant,p.Gln218Pro,ENST00000554517,;SLC7A7,missense_variant,p.Gln149Pro,ENST00000556350,;SLC7A7,missense_variant,p.Gln484Pro,ENST00000397529,;SLC7A7,missense_variant,p.Gln484Pro,ENST00000397532,;SLC7A7,missense_variant,p.Gln484Pro,ENST00000397528,;SLC7A7,missense_variant,p.Gln484Pro,ENST00000555702,;SLC7A7,missense_variant,p.Gln484Pro,ENST00000285850,;OXA1L,downstream_gene_variant,,ENST00000431881,;OXA1L,downstream_gene_variant,,ENST00000604262,;OXA1L,downstream_gene_variant,,ENST00000412791,;OXA1L,downstream_gene_variant,,ENST00000285848,;OXA1L,downstream_gene_variant,,ENST00000358043,;SLC7A7,non_coding_transcript_exon_variant,,ENST00000554061,;SLC7A7,3_prime_UTR_variant,,ENST00000556287,;SLC7A7,non_coding_transcript_exon_variant,,ENST00000555678,;OXA1L,downstream_gene_variant,,ENST00000442110,;OXA1L,downstream_gene_variant,,ENST00000473744,;OXA1L,downstream_gene_variant,,ENST00000495424,;OXA1L,downstream_gene_variant,,ENST00000481218,;OXA1L,downstream_gene_variant,,ENST00000483939,;	1977	74	48	SUCCESS
GPHN	10243	.	GRCh37	14	67389470	67389470	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	79	0	ENST00000315266.5:c.544G>T	p.Glu182Ter	p.E182*	ENST00000315266	NM_001024218.1	182	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9777.1	544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGAACTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Gene3D:3.40.980.10	.	.	ENSP00000417901	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,stop_gained,p.Glu164Ter,ENST00000459628,;GPHN,stop_gained,p.Glu195Ter,ENST00000543237,;GPHN,stop_gained,p.Glu151Ter,ENST00000305960,;GPHN,stop_gained,p.Glu115Ter,ENST00000555456,;GPHN,stop_gained,p.Glu182Ter,ENST00000315266,;GPHN,stop_gained,p.Glu182Ter,ENST00000478722,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,3_prime_UTR_variant,,ENST00000556633,;	1665	80	20	SUCCESS
FLRT2	23768	.	GRCh37	14	86089754	86089754	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	77	0	ENST00000330753.4:c.1896G>A	p.Gly632=	p.G632=	ENST00000330753	NM_013231.4	632	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9877.1	1896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGGGCAT	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,synonymous_variant,p.%3D,ENST00000330753,;FLRT2,synonymous_variant,p.%3D,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2663	77	51	SUCCESS
PGP	283871	.	GRCh37	16	2264015	2264015	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	44	0	ENST00000333503.7:c.680A>G	p.Gln227Arg	p.Q227R	ENST00000333503	NM_001042371.2	227	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS42104.1	680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCTGGGCG	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF37,Gene3D:3.40.50.10410,TIGRFAM_domain:TIGR01460,TIGRFAM_domain:TIGR01452,PIRSF_domain:PIRSF000915,Superfamily_domains:SSF56784	.	.	ENSP00000330918	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000333503	Transcript	.	.	ENSG00000184207	8909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	tolerated(0.21)	.	PGP_HUMAN	PGP	HGNC	.	.	UPI00000473F8	SNV	PGP,missense_variant,p.Gln227Arg,ENST00000333503,;MLST8,downstream_gene_variant,,ENST00000397124,;MLST8,downstream_gene_variant,,ENST00000301725,;MLST8,downstream_gene_variant,,ENST00000564088,;MLST8,downstream_gene_variant,,ENST00000301724,;BRICD5,upstream_gene_variant,,ENST00000566018,;MLST8,downstream_gene_variant,,ENST00000569417,;MLST8,downstream_gene_variant,,ENST00000565250,;BRICD5,upstream_gene_variant,,ENST00000328540,;MLST8,downstream_gene_variant,,ENST00000382450,;BRICD5,upstream_gene_variant,,ENST00000562360,;RP11-304L19.8,downstream_gene_variant,,ENST00000561544,;MLST8,downstream_gene_variant,,ENST00000566835,;BRICD5,upstream_gene_variant,,ENST00000566795,;MLST8,downstream_gene_variant,,ENST00000568194,;MLST8,downstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000565330,;MLST8,downstream_gene_variant,,ENST00000568542,;PGP,upstream_gene_variant,,ENST00000562001,;MLST8,downstream_gene_variant,,ENST00000563067,;	710	45	29	SUCCESS
C16orf70	0	.	GRCh37	16	67159932	67159932	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs528433156	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	31	0	ENST00000219139.3:c.218A>G	p.Asn73Ser	p.N73S	ENST00000219139	NM_025187.3	73	aAt/aGt	0	.	G:0	.	G:0	.	G	N/S	protein_coding	YES	CCDS10828.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAATCAGA	NONE	by1000G	.	hmmpanther:PTHR13465,Pfam_domain:PF03676	G:0	.	ENSP00000219139	G:0	3/16	.	.	.	.	.	.	.	.	rs528433156	3/16	PASS	ENST00000219139	Transcript	.	G:0.0002	ENSG00000125149	29564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	G:0.001	tolerated(0.45)	.	CP070_HUMAN	C16orf70	HGNC	H3BSG0_HUMAN	.	UPI0000137911	SNV	C16orf70,missense_variant,p.Asn73Ser,ENST00000563853,;C16orf70,missense_variant,p.Asn73Ser,ENST00000219139,;C16orf70,missense_variant,p.Asn73Ser,ENST00000569600,;C16orf70,intron_variant,,ENST00000566026,;C16orf70,intron_variant,,ENST00000569914,;C16orf70,non_coding_transcript_exon_variant,,ENST00000569683,;C16orf70,non_coding_transcript_exon_variant,,ENST00000569626,;	406	31	25	SUCCESS
PSMB10	5699	.	GRCh37	16	67968561	67968561	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	58	0	ENST00000358514.4:c.724C>T	p.His242Tyr	p.H242Y	ENST00000358514	NM_002801.3	242	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS10853.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGGTAGC	NONE	.	.	hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF41,Gene3D:3.60.20.10,Pfam_domain:PF12465	.	.	ENSP00000351314	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358514	Transcript	.	.	ENSG00000205220	9538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.1)	.	PSB10_HUMAN	PSMB10	HGNC	.	.	UPI00001325EC	SNV	PSMB10,missense_variant,p.His242Tyr,ENST00000358514,;PSMB10,synonymous_variant,p.%3D,ENST00000574576,;CTRL,upstream_gene_variant,,ENST00000571605,;CTRL,upstream_gene_variant,,ENST00000574481,;CTRL,upstream_gene_variant,,ENST00000571044,;PSKH1,downstream_gene_variant,,ENST00000291041,;CTRL,upstream_gene_variant,,ENST00000576408,;CTRL,upstream_gene_variant,,ENST00000573845,;CTC-479C5.12,3_prime_UTR_variant,,ENST00000573493,;PSMB10,non_coding_transcript_exon_variant,,ENST00000570985,;CTC-479C5.12,non_coding_transcript_exon_variant,,ENST00000575231,;CTRL,upstream_gene_variant,,ENST00000575302,;CTRL,upstream_gene_variant,,ENST00000572144,;PSMB10,downstream_gene_variant,,ENST00000570304,;CTRL,upstream_gene_variant,,ENST00000576915,;PSMB10,downstream_gene_variant,,ENST00000575556,;	1062	58	47	SUCCESS
BCMO1	0	.	GRCh37	16	81295933	81295933	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	24	0	ENST00000258168.2:c.471+45G>T		p.*157*	ENST00000258168	NM_017429.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10934.1	.	MUTECT|MUSE	.	AGAAAGGGAGA	NONE	.	.	.	.	.	ENSP00000258168	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258168	Transcript	.	.	ENSG00000135697	13815	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCDO1_HUMAN	BCMO1	HGNC	.	.	UPI0000049CF7	SNV	BCMO1,3_prime_UTR_variant,,ENST00000564552,;BCMO1,intron_variant,,ENST00000425577,;BCMO1,intron_variant,,ENST00000258168,;BCMO1,intron_variant,,ENST00000563804,;	.	24	24	SUCCESS
ZNF469	84627	.	GRCh37	16	88503345	88503345	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs985213215	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	18	0	ENST00000437464.1:c.9383G>A	p.Arg3128Gln	p.R3128Q	ENST00000437464	NM_001127464.1	3128	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS45544.1	9383	MUTECT|MUSE	.	CTCGCGGGAGC	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2,SMART_domains:SM00355	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.897)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Arg3156Gln,ENST00000565624,;ZNF469,missense_variant,p.Arg3128Gln,ENST00000437464,;	9383	18	11	SUCCESS
TUBG2	27175	.	GRCh37	17	40815432	40815432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	57	0	ENST00000251412.7:c.517C>A	p.Pro173Thr	p.P173T	ENST00000251412	NM_016437.2	173	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS32658.1	517	MUTECT|MUSE	.	TGTTTCCCTAC	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF79,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000251412	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000251412	Transcript	.	.	ENSG00000037042	12419	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TBG2_HUMAN	TUBG2	HGNC	.	.	UPI0000136A5C	SNV	TUBG2,missense_variant,p.Pro173Thr,ENST00000251412,;PLEKHH3,downstream_gene_variant,,ENST00000412503,;PLEKHH3,downstream_gene_variant,,ENST00000591022,;PLEKHH3,downstream_gene_variant,,ENST00000293349,;PLEKHH3,downstream_gene_variant,,ENST00000456950,;TUBG2,non_coding_transcript_exon_variant,,ENST00000588870,;PLEKHH3,downstream_gene_variant,,ENST00000591476,;PLEKHH3,downstream_gene_variant,,ENST00000591196,;TUBG2,downstream_gene_variant,,ENST00000590396,;PLEKHH3,downstream_gene_variant,,ENST00000591490,;	716	57	48	SUCCESS
GPATCH8	23131	.	GRCh37	17	42477055	42477055	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751449158	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	24	100	0	ENST00000591680.1:c.2390G>T	p.Arg797Leu	p.R797L	ENST00000591680	NM_001002909.2	797	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS32666.1	2390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCGCTGG	NONE	byFrequency	.	hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11	.	.	ENSP00000467556	.	8/8	.	.	.	.	.	.	.	.	rs751449158	8/8	PASS	ENST00000591680	Transcript	.	.	ENSG00000186566	29066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	tolerated_low_confidence(0.13)	.	GPTC8_HUMAN	GPATCH8	HGNC	.	.	UPI0000237985	SNV	GPATCH8,missense_variant,p.Arg797Leu,ENST00000591680,;GPATCH8,missense_variant,p.Arg719Leu,ENST00000434000,;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,downstream_gene_variant,,ENST00000590041,;	2421	101	84	SUCCESS
RNF43	54894	.	GRCh37	17	56435197	56435197	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs552361417	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	80	0	ENST00000407977.2:c.1940T>A	p.Leu647His	p.L647H	ENST00000407977		647	cTc/cAc	0	.	G:0	.	G:0.0014	.	T	L/H	protein_coding	YES	CCDS11607.1	1940	MUTECT|MUSE|VARSCANS	.	CAGAGAGGCTG	NONE	by1000G	.	hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2	G:0	.	ENSP00000463069	G:0	8/9	.	.	.	.	.	.	.	.	rs552361417	8/9	PASS	ENST00000584437	Transcript	.	G:0.0002	ENSG00000108375	18505	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	G:0	deleterious_low_confidence(0.02)	.	RNF43_HUMAN	RNF43	HGNC	.	.	UPI000022A469	SNV	RNF43,missense_variant,p.Leu647His,ENST00000407977,;RNF43,missense_variant,p.Leu647His,ENST00000584437,;RNF43,missense_variant,p.Leu606His,ENST00000583753,;RNF43,missense_variant,p.Leu606His,ENST00000500597,;RNF43,missense_variant,p.Leu520His,ENST00000581868,;RNF43,missense_variant,p.Leu520His,ENST00000577625,;RNF43,missense_variant,p.Leu647His,ENST00000577716,;SUPT4H1,upstream_gene_variant,,ENST00000580947,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,downstream_gene_variant,,ENST00000585236,;BZRAP1-AS1,downstream_gene_variant,,ENST00000579527,;BZRAP1-AS1,downstream_gene_variant,,ENST00000580022,;BZRAP1-AS1,downstream_gene_variant,,ENST00000579859,;BZRAP1-AS1,downstream_gene_variant,,ENST00000578025,;	3896	80	73	SUCCESS
RP11-112H10.4	0	.	GRCh37	17	56620718	56620718	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	45	103	0	ENST00000580769.1:n.150-100A>G		p.*50*	ENST00000580769		277		0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32691.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGACAGAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15548	.	.	ENSP00000354874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000321691	Transcript	.	.	ENSG00000181013	26844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.03)	.	CQ047_HUMAN	C17orf47	HGNC	.	.	UPI0000140BFA	SNV	C17orf47,missense_variant,p.Val277Ala,ENST00000321691,;SEPT4,upstream_gene_variant,,ENST00000457347,;SEPT4,upstream_gene_variant,,ENST00000412945,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,intron_variant,,ENST00000578022,;RP11-112H10.4,intron_variant,,ENST00000580769,;SEPT4,upstream_gene_variant,,ENST00000581921,;	1012	103	119	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	23	84	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	84	43	SUCCESS
SLC26A11	284129	.	GRCh37	17	78196581	78196581	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	42	74	0	ENST00000361193.3:c.362C>T	p.Ala121Val	p.A121V	ENST00000361193	NM_001166347.1	121	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11771.2	362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCCTACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF55,hmmpanther:PTHR11814	.	.	ENSP00000355384	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000361193	Transcript	.	.	ENSG00000181045	14471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.53)	.	S2611_HUMAN	SLC26A11	HGNC	Q96BU7_HUMAN,I3L3K8_HUMAN,I3L2J9_HUMAN,I3L1H1_HUMAN,I3L124_HUMAN	.	UPI000003E7B7	SNV	SLC26A11,missense_variant,p.Ala121Val,ENST00000361193,;SLC26A11,missense_variant,p.Ala121Val,ENST00000572725,;SLC26A11,missense_variant,p.Ala36Val,ENST00000573809,;SLC26A11,missense_variant,p.Ala121Val,ENST00000411502,;SLC26A11,missense_variant,p.Ala121Val,ENST00000577155,;SLC26A11,missense_variant,p.Ala121Val,ENST00000546047,;SLC26A11,missense_variant,p.Ala121Val,ENST00000571176,;SLC26A11,intron_variant,,ENST00000576126,;SLC26A11,downstream_gene_variant,,ENST00000574967,;SGSH,upstream_gene_variant,,ENST00000576707,;SGSH,upstream_gene_variant,,ENST00000570427,;SGSH,upstream_gene_variant,,ENST00000570923,;SGSH,upstream_gene_variant,,ENST00000326317,;SGSH,upstream_gene_variant,,ENST00000534910,;SLC26A11,non_coding_transcript_exon_variant,,ENST00000571602,;SLC26A11,intron_variant,,ENST00000572226,;SLC26A11,intron_variant,,ENST00000571564,;SGSH,upstream_gene_variant,,ENST00000572208,;SLC26A11,intron_variant,,ENST00000571888,;SGSH,upstream_gene_variant,,ENST00000571051,;SGSH,upstream_gene_variant,,ENST00000576941,;SLC26A11,downstream_gene_variant,,ENST00000572652,;SGSH,upstream_gene_variant,,ENST00000571075,;SGSH,upstream_gene_variant,,ENST00000575188,;SGSH,upstream_gene_variant,,ENST00000571675,;SGSH,upstream_gene_variant,,ENST00000575282,;SLC26A11,upstream_gene_variant,,ENST00000571072,;SGSH,upstream_gene_variant,,ENST00000574505,;SGSH,upstream_gene_variant,,ENST00000573150,;	642	74	82	SUCCESS
IFI30	10437	.	GRCh37	19	18284657	18284657	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	22	0	ENST00000407280.3:c.6C>T	p.Thr2=	p.T2=	ENST00000407280	NM_006332.4	2	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46015.1	6	MUTECT|MUSE	.	ATGACCCTGTC	NONE	.	.	hmmpanther:PTHR13234:SF8,hmmpanther:PTHR13234,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000384886	.	1/7	.	.	.	.	.	.	.	.	COSM1611823	1/7	PASS	ENST00000407280	Transcript	.	.	ENSG00000216490	5398	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	GILT_HUMAN	IFI30	HGNC	M0QZG3_HUMAN	.	UPI0000072A2B	SNV	IFI30,synonymous_variant,p.%3D,ENST00000407280,;IFI30,synonymous_variant,p.%3D,ENST00000597802,;PIK3R2,downstream_gene_variant,,ENST00000222254,;PIK3R2,3_prime_UTR_variant,,ENST00000593731,;IFI30,upstream_gene_variant,,ENST00000600463,;PIK3R2,downstream_gene_variant,,ENST00000459743,;PIK3R2,downstream_gene_variant,,ENST00000464016,;PIK3R2,downstream_gene_variant,,ENST00000426902,;	181	22	14	SUCCESS
LILRA2	11027	.	GRCh37	19	55086255	55086255	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780649717	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	49	0	ENST00000251377.3:c.410G>T	p.Gly137Val	p.G137V	ENST00000251377		137	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46179.1	410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGGAACG	NONE	byFrequency	.	hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251377	.	5/9	.	.	.	.	.	.	.	.	rs780649717,COSM3538827,COSM3538826	5/9	PASS	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.998)	.	deleterious(0.03)	0,1,1	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,missense_variant,p.Gly137Val,ENST00000251376,;LILRA2,missense_variant,p.Gly137Val,ENST00000391738,;LILRA2,missense_variant,p.Gly125Val,ENST00000391737,;LILRA2,missense_variant,p.Gly137Val,ENST00000439534,;LILRA2,missense_variant,p.Gly137Val,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;	543	49	60	SUCCESS
ZNF329	79673	.	GRCh37	19	58639664	58639664	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	106	0	ENST00000358067.4:c.1207G>A	p.Glu403Lys	p.E403K	ENST00000358067		403	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12972.1	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCTTTAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF118,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000470008	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000598312	Transcript	.	.	ENSG00000181894	14209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	ZN329_HUMAN	ZNF329	HGNC	M0R136_HUMAN	.	UPI0000246E79	SNV	ZNF329,missense_variant,p.Glu403Lys,ENST00000598312,;ZNF329,missense_variant,p.Glu403Lys,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,missense_variant,p.Glu403Lys,ENST00000500161,;ZNF329,missense_variant,p.Glu403Lys,ENST00000597186,;	1441	106	105	SUCCESS
ST7L	54879	.	GRCh37	1	113098573	113098573	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	52	0	ENST00000358039.4:c.1313C>T	p.Ala438Val	p.A438V	ENST00000358039	NM_138727.3	438	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS848.1	1313	RADIA|MUTECT|MUSE	.	CAATTGCTTCA	NONE	.	.	hmmpanther:PTHR12745:SF4,hmmpanther:PTHR12745,Pfam_domain:PF04184	.	.	ENSP00000350734	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000358039	Transcript	.	.	ENSG00000007341	18441	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ST7L_HUMAN	ST7L	HGNC	.	.	UPI000006D137	SNV	ST7L,missense_variant,p.Ala438Val,ENST00000360743,;ST7L,missense_variant,p.Ala438Val,ENST00000358039,;ST7L,missense_variant,p.Ala255Val,ENST00000369669,;ST7L,missense_variant,p.Ala421Val,ENST00000369666,;ST7L,missense_variant,p.Ala373Val,ENST00000544629,;ST7L,missense_variant,p.Ala421Val,ENST00000490067,;ST7L,missense_variant,p.Ala438Val,ENST00000343210,;ST7L,missense_variant,p.Ala438Val,ENST00000369668,;ST7L,missense_variant,p.Ala213Val,ENST00000418497,;ST7L,missense_variant,p.Ala382Val,ENST00000538187,;ST7L,intron_variant,,ENST00000543570,;ST7L,non_coding_transcript_exon_variant,,ENST00000497457,;ST7L,non_coding_transcript_exon_variant,,ENST00000463235,;ST7L,intron_variant,,ENST00000480988,;ST7L,upstream_gene_variant,,ENST00000495109,;ST7L,missense_variant,p.Ala438Val,ENST00000361846,;ST7L,missense_variant,p.Ala438Val,ENST00000490715,;	1618	52	59	SUCCESS
CACNA1E	777	.	GRCh37	1	181701775	181701775	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	56	0	ENST00000367573.2:c.2553C>A	p.Ser851Arg	p.S851R	ENST00000367573	NM_001205293.1	851	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS55664.1	2553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGCCGTGG	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	20/48	.	.	.	.	.	.	.	.	.	20/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	tolerated(0.49)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ser783Arg,ENST00000358338,;CACNA1E,missense_variant,p.Ser458Arg,ENST00000367567,;CACNA1E,missense_variant,p.Ser802Arg,ENST00000357570,;CACNA1E,missense_variant,p.Ser832Arg,ENST00000360108,;CACNA1E,missense_variant,p.Ser832Arg,ENST00000526775,;CACNA1E,missense_variant,p.Ser851Arg,ENST00000367573,;CACNA1E,missense_variant,p.Ser851Arg,ENST00000367570,;	2553	56	89	SUCCESS
HMCN1	83872	.	GRCh37	1	185976272	185976272	+	synonymous_variant	Silent	SNP	G	G	A	rs769130939	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	125	109	0	ENST00000271588.4:c.4488G>A	p.Leu1496=	p.L1496=	ENST00000271588	NM_031935.2	1496	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS30956.1	4488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGGGCGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	30/107	.	.	.	.	.	.	.	.	rs769130939	30/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	4717	109	153	SUCCESS
KCNH1	3756	.	GRCh37	1	210856666	210856666	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760777055	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	14	79	0	ENST00000271751.4:c.2927C>A	p.Pro976Gln	p.P976Q	ENST00000271751		976	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS1496.1	2927	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGGCCTC	NONE	byFrequency	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377	.	.	ENSP00000271751	.	11/11	.	.	.	.	.	.	.	.	rs760777055,COSM678759	11/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.966)	.	deleterious_low_confidence(0)	0,1	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Pro949Gln,ENST00000367007,;KCNH1,missense_variant,p.Pro976Gln,ENST00000271751,;	2955	79	122	SUCCESS
SLC30A1	7779	.	GRCh37	1	211749034	211749047	+	frameshift_variant	Frame_Shift_Del	DEL	AAAACGTCTTTAAT	AAAACGTCTTTAAT	-	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	AAAACGTCTTTAAT	AAAACGTCTTTAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	15	76	73	0	ENST00000367001.4:c.1207_1220del	p.Ile403SerfsTer2	p.I403Sfs*2	ENST00000367001	NM_021194.2	403	ATTAAAGACGTTTTt/t	0	.	.	.	.	.	-	IKDVF/X	protein_coding	YES	CCDS1499.1	1207-1220	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATGAAAAACGTCTTTAATGGTTT	BUFFER|p.K401E|c.1201A>G|3	.	.	hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Pfam_domain:PF01545,Superfamily_domains:SSF160240	.	.	ENSP00000355968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	deletion	SLC30A1,frameshift_variant,p.Ile403SerfsTer2,ENST00000367001,;	1337-1350	73	91	SUCCESS
USP48	84196	.	GRCh37	1	22084268	22084268	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	81	1	ENST00000308271.9:c.143G>A	p.Cys48Tyr	p.C48Y	ENST00000308271	NM_032236.5	48	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS30623.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCAGTTT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF100	.	.	ENSP00000309262	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,missense_variant,p.Cys48Tyr,ENST00000421625,;USP48,missense_variant,p.Cys48Tyr,ENST00000529637,;USP48,missense_variant,p.Cys48Tyr,ENST00000308271,;USP48,missense_variant,p.Cys48Tyr,ENST00000400301,;USP48,5_prime_UTR_variant,,ENST00000532737,;USP48,5_prime_UTR_variant,,ENST00000527823,;USP48,non_coding_transcript_exon_variant,,ENST00000489108,;	792	82	43	SUCCESS
PARP1	142	.	GRCh37	1	226590006	226590006	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	29	22	0	ENST00000366794.5:c.195G>A	p.Arg65=	p.R65=	ENST00000366794	NM_001618.3	65	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1554.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGCCGGAT	NONE	.	.	PROSITE_profiles:PS50064,hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,Pfam_domain:PF00645,Gene3D:1v9xA00,PIRSF_domain:PIRSF000489,Superfamily_domains:SSF57716	.	.	ENSP00000355759	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000366794	Transcript	.	.	ENSG00000143799	270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP1_HUMAN	PARP1	HGNC	Q96P95_HUMAN	.	UPI000013D92D	SNV	PARP1,synonymous_variant,p.%3D,ENST00000366792,;PARP1,synonymous_variant,p.%3D,ENST00000366790,;PARP1,synonymous_variant,p.%3D,ENST00000366794,;PARP1,synonymous_variant,p.%3D,ENST00000366791,;	339	22	37	SUCCESS
NDUFS5	4725	.	GRCh37	1	39494585	39494585	+	synonymous_variant	Silent	SNP	C	C	T	rs372457176	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	84	0	ENST00000372967.3:c.189C>T	p.Phe63=	p.F63=	ENST00000372967	NM_001184979.1	63	ttC/ttT	0	T:0.0002	.	.	.	.	T	F	protein_coding	YES	CCDS434.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCGTAGA	NONE	byCluster	.	hmmpanther:PTHR15224,Pfam_domain:PF10200	.	T:0	ENSP00000362060	.	2/3	.	.	.	.	.	.	.	.	rs372457176,COSM1342449,COSM909136	2/3	PASS	ENST00000372969	Transcript	.	.	ENSG00000168653	7712	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	NDUS5_HUMAN	NDUFS5	HGNC	Q6IBA0_HUMAN	.	UPI000013E824	SNV	NDUFS5,synonymous_variant,p.%3D,ENST00000372967,;NDUFS5,synonymous_variant,p.%3D,ENST00000372969,;	276	84	78	SUCCESS
JAK1	3716	.	GRCh37	1	65306964	65306964	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	39	131	0	ENST00000342505.4:c.2613A>C	p.Glu871Asp	p.E871D	ENST00000342505	NM_002227.2	871	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS41346.1	2613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTTTCAAA	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,PIRSF_domain:PIRSF000636	.	.	ENSP00000343204	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.809)	.	tolerated(0.14)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Glu871Asp,ENST00000342505,;JAK1,upstream_gene_variant,,ENST00000481702,;JAK1,downstream_gene_variant,,ENST00000471473,;JAK1,downstream_gene_variant,,ENST00000465376,;	2862	131	111	SUCCESS
SGK2	10110	.	GRCh37	20	42195738	42195738	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	49	0	ENST00000341458.4:c.247G>C	p.Gly83Arg	p.G83R	ENST00000341458	NM_016276.3	83	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS13320.1	247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGGGCCT	NONE	.	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF121	.	.	ENSP00000340608	.	2/12	.	.	.	.	.	.	.	.	COSM723611	2/12	PASS	ENST00000341458	Transcript	.	.	ENSG00000101049	13900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.817)	.	deleterious(0.02)	1	SGK2_HUMAN	SGK2	HGNC	.	.	UPI0000033528	SNV	SGK2,missense_variant,p.Gly23Arg,ENST00000373100,;SGK2,missense_variant,p.Gly23Arg,ENST00000412111,;SGK2,missense_variant,p.Gly23Arg,ENST00000423407,;SGK2,missense_variant,p.Gly23Arg,ENST00000373077,;SGK2,missense_variant,p.Gly83Arg,ENST00000341458,;SGK2,missense_variant,p.Gly23Arg,ENST00000373092,;SGK2,missense_variant,p.Gly49Arg,ENST00000426287,;SGK2,upstream_gene_variant,,ENST00000485914,;SGK2,missense_variant,p.Gly23Arg,ENST00000496343,;	466	49	60	SUCCESS
AURKA	6790	.	GRCh37	20	54961384	54961384	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	68	208	0	ENST00000312783.6:c.248G>A	p.Ser83Asn	p.S83N	ENST00000312783	NM_198436.1	83	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS13451.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACACTGGTT	NONE	.	.	hmmpanther:PTHR24350,hmmpanther:PTHR24350:SF5,Gene3D:3.30.200.20	.	.	ENSP00000379245	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000395909	Transcript	.	.	ENSG00000087586	11393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.24)	.	AURKA_HUMAN	AURKA	HGNC	Q5QPD4_HUMAN,Q5QPD2_HUMAN,Q5QPD1_HUMAN,A3KFJ2_HUMAN,A3KFJ1_HUMAN	.	UPI000013C70F	SNV	AURKA,missense_variant,p.Ser83Asn,ENST00000395909,;AURKA,missense_variant,p.Ser83Asn,ENST00000395913,;AURKA,missense_variant,p.Ser83Asn,ENST00000456249,;AURKA,missense_variant,p.Ser83Asn,ENST00000420474,;AURKA,missense_variant,p.Ser83Asn,ENST00000422322,;AURKA,missense_variant,p.Ser83Asn,ENST00000347343,;AURKA,missense_variant,p.Ser83Asn,ENST00000371356,;AURKA,missense_variant,p.Ser83Asn,ENST00000395915,;AURKA,missense_variant,p.Ser83Asn,ENST00000441357,;AURKA,missense_variant,p.Ser83Asn,ENST00000395907,;AURKA,missense_variant,p.Ser83Asn,ENST00000395911,;AURKA,missense_variant,p.Ser83Asn,ENST00000395914,;AURKA,missense_variant,p.Ser83Asn,ENST00000312783,;AURKA,downstream_gene_variant,,ENST00000451915,;	814	208	178	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107460245	107460245	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	30	0	ENST00000361686.4:c.189C>A	p.Gly63=	p.G63=	ENST00000361686	NM_032528.2	63	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2073.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGCCCAT	NONE	.	.	hmmpanther:PTHR13713:SF48,hmmpanther:PTHR13713	.	.	ENSP00000386942	.	2/6	.	.	.	.	.	.	.	.	COSM1004963	2/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,synonymous_variant,p.%3D,ENST00000409087,;ST6GAL2,synonymous_variant,p.%3D,ENST00000409382,;ST6GAL2,synonymous_variant,p.%3D,ENST00000361686,;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	800	30	37	SUCCESS
TPO	7173	.	GRCh37	2	1440139	1440139	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	84	1	ENST00000329066.4:c.465A>T	p.Thr155=	p.T155=	ENST00000329066	NM_001206744.1	155	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1643.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACAGGAGC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,synonymous_variant,p.%3D,ENST00000329066,;TPO,synonymous_variant,p.%3D,ENST00000539820,;TPO,synonymous_variant,p.%3D,ENST00000337415,;TPO,synonymous_variant,p.%3D,ENST00000382198,;TPO,synonymous_variant,p.%3D,ENST00000382201,;TPO,synonymous_variant,p.%3D,ENST00000382269,;TPO,synonymous_variant,p.%3D,ENST00000423320,;TPO,synonymous_variant,p.%3D,ENST00000349624,;TPO,synonymous_variant,p.%3D,ENST00000346956,;TPO,synonymous_variant,p.%3D,ENST00000422464,;TPO,synonymous_variant,p.%3D,ENST00000345913,;TPO,intron_variant,,ENST00000497517,;	556	85	82	SUCCESS
DNAH7	56171	.	GRCh37	2	196891574	196891574	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753983388	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	99	0	ENST00000312428.6:c.577C>A	p.Pro193Thr	p.P193T	ENST00000312428	NM_018897.2	193	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS42794.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGAACTA	NONE	byFrequency	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	7/65	.	.	.	.	.	.	.	.	rs753983388	7/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.01)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Pro193Thr,ENST00000410072,;DNAH7,missense_variant,p.Pro193Thr,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000427816,;	678	99	80	SUCCESS
MAP2	4133	.	GRCh37	2	210561763	210561763	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369892280	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	87	0	ENST00000360351.4:c.4510C>T	p.Arg1504Trp	p.R1504W	ENST00000360351	NM_002374.3	1504	Cgg/Tgg	0	A:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS2384.1	4510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGCGGAAA	NONE	byCluster	.	hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	A:0.0001	ENSP00000353508	.	9/15	.	.	.	.	.	.	.	.	rs369892280	9/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Arg1500Trp,ENST00000447185,;MAP2,missense_variant,p.Arg1504Trp,ENST00000360351,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000475600,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,downstream_gene_variant,,ENST00000482864,;	5016	87	73	SUCCESS
CPS1	1373	.	GRCh37	2	211455540	211455540	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148654695	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	57	0	ENST00000233072.5:c.857G>A	p.Arg286His	p.R286H	ENST00000233072	NM_001875.4	286	cGc/cAc	0	A:0.0002	A:0.0015	.	A:0	.	A	R/H	protein_coding	YES	CCDS46505.1	875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCGCAAGG	NONE	byFrequency|byCluster|by1000G	.	HAMAP:MF_01209,PROSITE_profiles:PS51273,hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,Pfam_domain:PF00117,TIGRFAM_domain:TIGR01368,Gene3D:3.40.50.880,Superfamily_domains:SSF52317	A:0.001	A:0	ENSP00000402608	A:0	10/39	.	.	.	.	.	.	.	.	rs148654695,COSM1405124,COSM1405123	10/39	PASS	ENST00000430249	Transcript	.	A:0.0006	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.977)	A:0	deleterious(0.04)	0,1,1	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Arg292His,ENST00000430249,;CPS1,missense_variant,p.Arg286His,ENST00000233072,;CPS1,upstream_gene_variant,,ENST00000451903,;	930	57	36	SUCCESS
APOB	338	.	GRCh37	2	21233705	21233705	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749146264	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	53	202	0	ENST00000233242.1:c.6035G>A	p.Arg2012Gln	p.R2012Q	ENST00000233242	NM_000384.2	2012	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1703.1	6035	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTCGTCCA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	rs749146264,COSM1690255	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.017)	.	.	0,1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Arg2012Gln,ENST00000233242,;	6163	202	175	SUCCESS
INHA	3623	.	GRCh37	2	220439974	220439974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	83	0	ENST00000243786.2:c.827G>T	p.Trp276Leu	p.W276L	ENST00000243786	NM_002191.3	276	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS2444.1	827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGGGAAC	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF117,Pfam_domain:PF00019,Gene3D:2.10.90.10,PIRSF_domain:PIRSF037328,SMART_domains:SM00204,Superfamily_domains:SSF57501,Prints_domain:PR00669	.	.	ENSP00000243786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243786	Transcript	.	.	ENSG00000123999	6065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INHA_HUMAN	INHA	HGNC	.	.	UPI000002C8C6	SNV	INHA,missense_variant,p.Trp276Leu,ENST00000243786,;OBSL1,upstream_gene_variant,,ENST00000603926,;OBSL1,upstream_gene_variant,,ENST00000289656,;OBSL1,upstream_gene_variant,,ENST00000373876,;OBSL1,upstream_gene_variant,,ENST00000265318,;OBSL1,upstream_gene_variant,,ENST00000404537,;OBSL1,upstream_gene_variant,,ENST00000373873,;INHA,downstream_gene_variant,,ENST00000489456,;OBSL1,upstream_gene_variant,,ENST00000465589,;OBSL1,upstream_gene_variant,,ENST00000491370,;OBSL1,upstream_gene_variant,,ENST00000465149,;	1007	83	90	SUCCESS
CUL3	8452	.	GRCh37	2	225376243	225376243	+	synonymous_variant	Silent	SNP	T	T	C	rs1426166050	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	41	188	0	ENST00000264414.4:c.711A>G	p.Val237=	p.V237=	ENST00000264414	NM_003590.4	237	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2462.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTACTTT	NONE	.	.	hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788	.	.	ENSP00000264414	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000264414	Transcript	.	.	ENSG00000036257	2553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL3_HUMAN	CUL3	HGNC	Q53S54_HUMAN,Q53RD1_HUMAN	.	UPI0000001C83	SNV	CUL3,synonymous_variant,p.%3D,ENST00000344951,;CUL3,synonymous_variant,p.%3D,ENST00000264414,;CUL3,synonymous_variant,p.%3D,ENST00000409777,;CUL3,synonymous_variant,p.%3D,ENST00000409096,;CUL3,downstream_gene_variant,,ENST00000436172,;CUL3,non_coding_transcript_exon_variant,,ENST00000541548,;CUL3,downstream_gene_variant,,ENST00000432260,;CUL3,upstream_gene_variant,,ENST00000484081,;	1050	188	140	SUCCESS
SLC9C1	285335	.	GRCh37	3	111981884	111981884	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747653983	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	63	189	0	ENST00000305815.5:c.1084C>T	p.Arg362Cys	p.R362C	ENST00000305815	NM_183061.1	362	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS33817.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGCCAAC	NONE	byFrequency	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Pfam_domain:PF00999	.	.	ENSP00000306627	.	10/29	.	.	.	.	.	.	.	.	rs747653983	10/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Arg314Cys,ENST00000487372,;SLC9C1,missense_variant,p.Arg362Cys,ENST00000305815,;SLC9C1,intron_variant,,ENST00000471295,;	1337	189	173	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119133178	119133178	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	41	0	ENST00000264245.4:c.2402A>C	p.Lys801Thr	p.K801T	ENST00000264245	NM_020754.2	801	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS43135.1	2402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAAGGGCG	NONE	.	.	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.1)	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,missense_variant,p.Lys801Thr,ENST00000264245,;	2934	41	32	SUCCESS
SEC22A	26984	.	GRCh37	3	122978413	122978413	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	316	107	363	0	ENST00000309934.4:c.701del	p.Gly234GlufsTer25	p.G234Efs*25	ENST00000309934	NM_012430.4	234	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS3021.1	700	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTTGGAACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF68	.	.	ENSP00000310521	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000309934	Transcript	.	.	ENSG00000121542	20260	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC22A_HUMAN	SEC22A	HGNC	C9JZ27_HUMAN,C9JRY4_HUMAN,C9JNZ0_HUMAN,C9JDJ8_HUMAN,C9J463_HUMAN	.	UPI0000070B44	deletion	SEC22A,frameshift_variant,p.Gly234GlufsTer25,ENST00000473494,;SEC22A,frameshift_variant,p.Gly234GlufsTer25,ENST00000309934,;SEC22A,frameshift_variant,p.Gly234GlufsTer25,ENST00000492595,;SEC22A,frameshift_variant,p.Glu76AsnfsTer38,ENST00000481965,;	1596	363	423	SUCCESS
TMEM44	93109	.	GRCh37	3	194336377	194336377	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	37	164	0	ENST00000392432.2:c.974del	p.Gly325AspfsTer16	p.G325Dfs*16	ENST00000392432	NM_001166305.1	325	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS54699.1	974	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAAATCCTAAG	NONE	.	.	hmmpanther:PTHR16201:SF33,hmmpanther:PTHR16201	.	.	ENSP00000376227	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000392432	Transcript	.	.	ENSG00000145014	25120	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMM44_HUMAN	TMEM44	HGNC	Q96I73_HUMAN	.	UPI00015E0940	deletion	TMEM44,frameshift_variant,p.Gly36AspfsTer16,ENST00000432352,;TMEM44,frameshift_variant,p.Gly10AspfsTer16,ENST00000429560,;TMEM44,frameshift_variant,p.Gly278AspfsTer16,ENST00000473092,;TMEM44,frameshift_variant,p.Gly278AspfsTer16,ENST00000381975,;TMEM44,frameshift_variant,p.Gly325AspfsTer16,ENST00000392432,;TMEM44,frameshift_variant,p.Gly278AspfsTer16,ENST00000347147,;TMEM44,frameshift_variant,p.Gly278AspfsTer16,ENST00000273580,;TMEM44,frameshift_variant,p.Gly111AspfsTer16,ENST00000452358,;TMEM44,non_coding_transcript_exon_variant,,ENST00000494894,;TMEM44,upstream_gene_variant,,ENST00000467284,;TMEM44,3_prime_UTR_variant,,ENST00000419280,;TMEM44,non_coding_transcript_exon_variant,,ENST00000477651,;	1180	164	138	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913400	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	14	191	0	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	98	RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33C|c.98C>G|191,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	191	132	SUCCESS
SEC24B	10427	.	GRCh37	4	110384263	110384263	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	81	0	ENST00000265175.5:c.340C>T	p.Gln114Ter	p.Q114*	ENST00000265175	NM_006323.2	114	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47124.1	340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACAGCAG	NONE	.	.	.	.	.	ENSP00000265175	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000265175	Transcript	.	.	ENSG00000138802	10704	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC24B_HUMAN	SEC24B	HGNC	B4E2E1_HUMAN	.	UPI00004F6ED7	SNV	SEC24B,stop_gained,p.Gln114Ter,ENST00000265175,;SEC24B,stop_gained,p.Gln145Ter,ENST00000504968,;SEC24B,stop_gained,p.Gln114Ter,ENST00000399100,;	395	81	35	SUCCESS
UGT2B28	54490	.	GRCh37	4	70160294	70160294	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756354201	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	65	1	ENST00000335568.5:c.1357C>T	p.Pro453Ser	p.P453S	ENST00000335568	NM_053039.1	453	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS3528.1	1357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAACCAGTA	NONE	.	.	hmmpanther:PTHR11926:SF142,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000334276	.	6/6	.	.	.	.	.	.	.	.	rs756354201	6/6	PASS	ENST00000335568	Transcript	.	.	ENSG00000135226	13479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.03)	.	UDB28_HUMAN	UGT2B28	HGNC	.	.	UPI0000137A9F	SNV	UGT2B28,missense_variant,p.Pro453Ser,ENST00000335568,;UGT2B28,3_prime_UTR_variant,,ENST00000511240,;	1359	66	41	SUCCESS
PTPN13	5783	.	GRCh37	4	87683886	87683886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	76	0	ENST00000411767.2:c.3560C>A	p.Ser1187Tyr	p.S1187Y	ENST00000411767		1187	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS47093.1	3560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCTACTC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	24/48	.	.	.	.	.	.	.	.	.	24/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0.05)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Ser1187Tyr,ENST00000411767,;PTPN13,missense_variant,p.Ser1187Tyr,ENST00000436978,;PTPN13,missense_variant,p.Ser996Tyr,ENST00000316707,;PTPN13,missense_variant,p.Ser1187Tyr,ENST00000511467,;PTPN13,missense_variant,p.Ser1168Tyr,ENST00000427191,;PTPN13,non_coding_transcript_exon_variant,,ENST00000508063,;PTPN13,upstream_gene_variant,,ENST00000511105,;	4040	76	43	SUCCESS
IRX1	79192	.	GRCh37	5	3599650	3599650	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	57	0	ENST00000302006.3:c.588C>A	p.Arg196=	p.R196=	ENST00000302006	NM_024337.3	196	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34132.1	588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGCAGCAA	NONE	.	.	Gene3D:1.10.10.60,hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,synonymous_variant,p.%3D,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	640	57	63	SUCCESS
DDO	8528	.	GRCh37	6	110714035	110714035	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1236110498	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	41	0	ENST00000368924.3:c.1053G>T	p.Arg351Ser	p.R351S	ENST00000368924	NM_003649.2	351	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS5082.1	1053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCTGGC	NONE	.	.	Superfamily_domains:SSF51971,PIRSF_domain:PIRSF000189,Gene3D:3.50.50.60,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF0	.	.	ENSP00000357920	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000368924	Transcript	.	.	ENSG00000203797	2727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.07)	.	OXDD_HUMAN	DDO	HGNC	C9K4X7_HUMAN	.	UPI000006D9AB	SNV	DDO,missense_variant,p.Arg351Ser,ENST00000368924,;DDO,missense_variant,p.Arg292Ser,ENST00000368923,;DDO,3_prime_UTR_variant,,ENST00000479373,;	1069	41	26	SUCCESS
WISP3	0	.	GRCh37	6	112375575	112375575	+	synonymous_variant	Silent	SNP	C	C	A	rs781883423	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	56	0	ENST00000361714.1:c.69C>A	p.Leu23=	p.L23=	ENST00000361714		23	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5097.1	69	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCTTCTC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF3	.	.	ENSP00000354734	.	1/5	.	.	.	.	.	.	.	.	rs781883423	1/5	PASS	ENST00000361714	Transcript	.	.	ENSG00000112761	12771	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WISP3_HUMAN	WISP3	HGNC	Q3T1A9_HUMAN	.	UPI000021BFC1	SNV	WISP3,synonymous_variant,p.%3D,ENST00000361714,;WISP3,synonymous_variant,p.%3D,ENST00000368666,;WISP3,synonymous_variant,p.%3D,ENST00000230529,;WISP3,synonymous_variant,p.%3D,ENST00000604763,;WISP3,non_coding_transcript_exon_variant,,ENST00000483439,;WISP3,synonymous_variant,p.%3D,ENST00000454589,;WISP3,synonymous_variant,p.%3D,ENST00000368664,;	114	56	67	SUCCESS
NHSL1	57224	.	GRCh37	6	138752106	138752106	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	38	147	1	ENST00000427025.2:c.3388G>C	p.Glu1130Gln	p.E1130Q	ENST00000427025	NM_020464.1	1130	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS55063.1	3388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCCATTT	NONE	.	.	hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3	.	.	ENSP00000394546	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000427025	Transcript	.	.	ENSG00000135540	21021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious_low_confidence(0)	.	NHSL1_HUMAN	NHSL1	HGNC	B4DS58_HUMAN	.	UPI0001750345	SNV	NHSL1,missense_variant,p.Glu1126Gln,ENST00000343505,;NHSL1,missense_variant,p.Glu1130Gln,ENST00000427025,;NHSL1,downstream_gene_variant,,ENST00000342260,;MIR3145,downstream_gene_variant,,ENST00000580727,;	4017	148	132	SUCCESS
WDR27	253769	.	GRCh37	6	170033072	170033072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370579184	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	45	0	ENST00000448612.1:c.2194C>T	p.Arg732Trp	p.R732W	ENST00000448612	NM_182552.4	732	Cgg/Tgg	0	A:0.0003	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS47520.2	2194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGTGAGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF313,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	A:0	A:0	ENSP00000416289	A:0	21/26	.	.	.	.	.	.	.	.	rs370579184	21/26	PASS	ENST00000448612	Transcript	.	A:0.0002	ENSG00000184465	21248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	A:0	deleterious(0)	.	WDR27_HUMAN	WDR27	HGNC	F8VUY7_HUMAN	.	UPI00015E06AF	SNV	WDR27,missense_variant,p.Arg732Trp,ENST00000448612,;WDR27,missense_variant,p.Arg732Trp,ENST00000333572,;WDR27,missense_variant,p.Arg605Trp,ENST00000423258,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;WDR27,non_coding_transcript_exon_variant,,ENST00000546525,;	2304	45	49	SUCCESS
KIAA1586	57691	.	GRCh37	6	56918371	56918371	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	107	1	ENST00000370733.4:c.1074A>C	p.Ile358=	p.I358=	ENST00000370733	NM_020931.2	358	atA/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS34480.1	1074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATAGCAGA	NONE	.	.	Superfamily_domains:SSF53098	.	.	ENSP00000359768	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370733	Transcript	.	.	ENSG00000168116	21360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1586_HUMAN	KIAA1586	HGNC	.	.	UPI0000074573	SNV	KIAA1586,synonymous_variant,p.%3D,ENST00000370733,;KIAA1586,synonymous_variant,p.%3D,ENST00000545356,;KIAA1586,downstream_gene_variant,,ENST00000488682,;	1281	109	87	SUCCESS
COL9A1	1297	.	GRCh37	6	71003965	71003965	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs534004614	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	43	119	0	ENST00000357250.6:c.601del	p.Ile201LeufsTer6	p.I201Lfs*6	ENST00000357250	NM_001851.4	201	Att/tt	0	.	A:0	.	A:0	.	-	I/X	protein_coding	YES	CCDS4971.1	601	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCAATCCTGT	NONE	by1000G	.	hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	A:0	.	ENSP00000349790	A:0	5/38	.	.	.	.	.	.	.	.	rs534004614	5/38	PASS	ENST00000357250	Transcript	.	A:0.0002	ENSG00000112280	2217	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.001	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	deletion	COL9A1,frameshift_variant,p.Ile201LeufsTer6,ENST00000370496,;COL9A1,frameshift_variant,p.Ile201LeufsTer6,ENST00000357250,;	760	119	150	SUCCESS
MDN1	23195	.	GRCh37	6	90484380	90484380	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761685478	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	150	0	ENST00000369393.3:c.1894C>T	p.Arg632Trp	p.R632W	ENST00000369393		632	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS5024.1	1894	MUTECT|MUSE	.	AAGCCGCACTC	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340,SMART_domains:SM00382	.	.	ENSP00000358400	.	13/102	.	.	.	.	.	.	.	.	rs761685478,COSM1446422	13/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.676)	.	.	0,1	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Arg632Trp,ENST00000369393,;MDN1,missense_variant,p.Arg632Trp,ENST00000428876,;MDN1,missense_variant,p.Arg559Trp,ENST00000439638,;	2010	150	137	SUCCESS
PIK3CG	5294	.	GRCh37	7	106545719	106545719	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	149	0	ENST00000359195.3:c.3196A>T	p.Lys1066Ter	p.K1066*	ENST00000359195	NM_002649.2	1066	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS5739.1	3196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAAAAGTAT	NONE	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000352121	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000359195	Transcript	.	.	ENSG00000105851	8978	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK3CG_HUMAN	PIK3CG	HGNC	Q24M88_HUMAN,E9PDN7_HUMAN	.	UPI00000746B8	SNV	PIK3CG,stop_gained,p.Lys1066Ter,ENST00000496166,;PIK3CG,stop_gained,p.Lys1066Ter,ENST00000359195,;PIK3CG,stop_gained,p.Lys1066Ter,ENST00000440650,;	3506	149	112	SUCCESS
INSIG1	3638	.	GRCh37	7	155094008	155094008	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	62	222	0	ENST00000340368.4:c.585C>T	p.Ala195=	p.A195=	ENST00000340368	NM_005542.4	195	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5938.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCCTATC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15301:SF11,hmmpanther:PTHR15301,Pfam_domain:PF07281	.	.	ENSP00000344741	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000340368	Transcript	.	.	ENSG00000186480	6083	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSI1_HUMAN	INSIG1	HGNC	C9JSG8_HUMAN	.	UPI00000015DE	SNV	INSIG1,synonymous_variant,p.%3D,ENST00000344756,;INSIG1,synonymous_variant,p.%3D,ENST00000340368,;INSIG1,synonymous_variant,p.%3D,ENST00000476756,;INSIG1,intron_variant,,ENST00000342407,;INSIG1,downstream_gene_variant,,ENST00000425172,;AC144652.1,upstream_gene_variant,,ENST00000609974,;INSIG1,non_coding_transcript_exon_variant,,ENST00000468307,;	796	222	203	SUCCESS
LMTK2	22853	.	GRCh37	7	97833378	97833378	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1344189045	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	47	0	ENST00000297293.5:c.4363G>T	p.Ala1455Ser	p.A1455S	ENST00000297293	NM_014916.3	1455	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS5654.1	4363	MUTECT|MUSE	.	CACCGGCCCGG	NONE	.	.	.	.	.	ENSP00000297293	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000297293	Transcript	.	.	ENSG00000164715	17880	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(1)	.	LMTK2_HUMAN	LMTK2	HGNC	.	.	UPI000014F277	SNV	LMTK2,missense_variant,p.Ala1455Ser,ENST00000297293,;	4656	47	23	SUCCESS
SPAG1	6674	.	GRCh37	8	101237520	101237520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	60	0	ENST00000251809.3:c.1808C>T	p.Ser603Leu	p.S603L	ENST00000251809	NM_172218.2	603	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS34930.1	1808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCAAAAC	NONE	.	.	hmmpanther:PTHR22904:SF310,hmmpanther:PTHR22904	.	.	ENSP00000373450	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000388798	Transcript	1	.	ENSG00000104450	11212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.11)	.	SPAG1_HUMAN	SPAG1	HGNC	.	.	UPI000016783D	SNV	SPAG1,missense_variant,p.Ser603Leu,ENST00000388798,;SPAG1,missense_variant,p.Ser603Leu,ENST00000251809,;SPAG1,non_coding_transcript_exon_variant,,ENST00000523302,;	1999	60	59	SUCCESS
CHD7	55636	.	GRCh37	8	61693771	61693771	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	28	0	ENST00000423902.2:c.1878C>A	p.Asn626Lys	p.N626K	ENST00000423902	NM_017780.3	626	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS47865.1	1878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAACCAAGA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	.	.	ENSP00000392028	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,missense_variant,p.Asn626Lys,ENST00000423902,;CHD7,missense_variant,p.Asn626Lys,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,;CHD7,intron_variant,,ENST00000527900,;CHD7,downstream_gene_variant,,ENST00000527825,;	2357	28	21	SUCCESS
ZNF462	58499	.	GRCh37	9	109773122	109773122	+	synonymous_variant	Silent	SNP	G	G	A	rs147574890	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	37	0	ENST00000277225.5:c.7332G>A	p.Lys2444=	p.K2444=	ENST00000277225		2444	aaG/aaA	0	A:0.0016	A:0.0023	.	A:0	.	A	K	protein_coding	YES	CCDS35096.1	7332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGCAGGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385	A:0	A:0	ENSP00000277225	A:0	13/13	.	.	.	.	.	.	.	.	rs147574890	13/13	PASS	ENST00000277225	Transcript	.	A:0.0006	ENSG00000148143	21684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,synonymous_variant,p.%3D,ENST00000277225,;ZNF462,synonymous_variant,p.%3D,ENST00000441147,;ZNF462,synonymous_variant,p.%3D,ENST00000374686,;ZNF462,synonymous_variant,p.%3D,ENST00000542028,;ZNF462,synonymous_variant,p.%3D,ENST00000457913,;RP11-508N12.2,intron_variant,,ENST00000439901,;ZNF462,non_coding_transcript_exon_variant,,ENST00000483287,;	7621	37	25	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18777646	18777646	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779039245	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	37	0	ENST00000380548.4:c.3419G>A	p.Gly1140Asp	p.G1140D	ENST00000380548	NM_001040272.5	1140	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47954.1	3419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGCTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	.	.	ENSP00000369921	.	19/29	.	.	.	.	.	.	.	.	rs779039245	19/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.11)	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Gly1140Asp,ENST00000380548,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	3758	37	26	SUCCESS
IFNA13	3447	.	GRCh37	9	21367937	21367937	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	99	0	ENST00000449498.1:c.73T>G	p.Cys25Gly	p.C25G	ENST00000449498	NM_006900.3	25	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS6505.2	73	RADIA|MUTECT|MUSE|VARSCANS	.	ATCACAGCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF30,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000394494	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000449498	Transcript	.	.	ENSG00000233816	5419	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	IFNA13	HGNC	E9PB07_HUMAN	.	UPI0000D4C125	SNV	IFNA13,missense_variant,p.Cys25Gly,ENST00000449498,;	139	99	65	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971111	21971111	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs121913385	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	61	0	ENST00000304494.5:c.247C>G	p.His83Asp	p.H83D	ENST00000304494	NM_000077.4	83	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS56565.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGTGCACGG	CODON|p.0?|c.1_471del471|15,CODON|p.H83R|c.248A>G|3,CODON|p.H83Y|c.247C>T|5,CODON|p.H83Y|c.247C>T|6,CODON|p.A138V|c.413C>T|6,CODON|p.H83Y|c.247C>T|39,BUFFER|p.D84V|c.251A>T|4,BUFFER|p.R139L|c.416G>T|6,BUFFER|p.R139Q|c.416G>A|4,BUFFER|p.D84N|c.250G>A|4,BUFFER|p.D84Y|c.250G>T|4,BUFFER|p.D84Y|c.250G>T|13,BUFFER|p.D84Y|c.250G>T|6,BUFFER|p.D84N|c.250G>A|7,BUFFER|p.V82M|c.244G>A|3,BUFFER|p.P81L|c.242C>T|9,BUFFER|p.R80*|c.237_238CC>TT|10,BUFFER|p.R80Q|c.239G>A|3,BUFFER|p.R80*|c.238C>T|116,BUFFER|p.P135L|c.404C>T|29,BUFFER|p.R80*|c.238C>T|14,BUFFER|p.R80*|c.238C>T|31	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	2/4	.	.	.	.	.	.	.	.	CM056557,rs121913385,CM053801,COSM12504,COSM13705,COSM99723,COSM99724,COSM1650884	2/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,1,1,1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,missense_variant,p.His32Asp,ENST00000578845,;CDKN2A,missense_variant,p.Ala97Gly,ENST00000579755,;CDKN2A,missense_variant,p.His32Asp,ENST00000494262,;CDKN2A,missense_variant,p.His32Asp,ENST00000498628,;CDKN2A,missense_variant,p.Ala97Gly,ENST00000530628,;CDKN2A,missense_variant,p.His83Asp,ENST00000446177,;CDKN2A,missense_variant,p.His83Asp,ENST00000304494,;CDKN2A,missense_variant,p.Ala138Gly,ENST00000361570,;CDKN2A,missense_variant,p.His83Asp,ENST00000498124,;CDKN2A,missense_variant,p.His32Asp,ENST00000479692,;CDKN2A,missense_variant,p.His83Asp,ENST00000579122,;CDKN2A,missense_variant,p.His32Asp,ENST00000497750,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	286	61	28	SUCCESS
INSL6	11172	.	GRCh37	9	5185468	5185468	+	synonymous_variant	Silent	SNP	G	G	A	rs141353328	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	79	1	ENST00000381641.3:c.135C>T	p.Cys45=	p.C45=	ENST00000381641	NM_007179.2	45	tgC/tgT	0	A:0.0057	A:0.0053	.	A:0.0014	.	A	C	protein_coding	YES	CCDS6458.1	135	MUTECT|MUSE	.	TGGCCGCAGAG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF56994,PIRSF_domain:PIRSF037062,SMART_domains:SM00078,Gene3D:1.10.100.10,Pfam_domain:PF00049,hmmpanther:PTHR12004:SF1,hmmpanther:PTHR12004	A:0	A:0	ENSP00000371054	A:0	1/2	.	.	.	.	.	.	.	.	rs141353328,COSM1109371	1/2	common_in_exac	ENST00000381641	Transcript	.	A:0.0016	ENSG00000120210	6089	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	INSL6_HUMAN	INSL6	HGNC	.	.	UPI000012D681	SNV	INSL6,synonymous_variant,p.%3D,ENST00000381641,;	201	80	51	SUCCESS
C9orf135	138255	.	GRCh37	9	72459518	72459518	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs372154813	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	68	0	ENST00000377197.3:c.238C>T	p.Arg80Ter	p.R80*	ENST00000377197	NM_001010940.1	80	Cga/Tga	0	T:0	.	.	.	.	T	R/*	protein_coding	YES	CCDS35041.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGCGACTG	NONE	byFrequency|byCluster	.	Pfam_domain:PF15139	.	T:0.0001	ENSP00000366402	.	2/6	.	.	.	.	.	.	.	.	rs372154813	2/6	PASS	ENST00000377197	Transcript	.	.	ENSG00000204711	31422	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI135_HUMAN	C9orf135	HGNC	E9PIA3_HUMAN	.	UPI00001AEC57	SNV	C9orf135,stop_gained,p.Arg80Ter,ENST00000377197,;C9orf135,stop_gained,p.Arg54Ter,ENST00000480564,;C9orf135,stop_gained,p.Arg80Ter,ENST00000527647,;C9orf135,intron_variant,,ENST00000466872,;C9orf135,intron_variant,,ENST00000495399,;C9orf135,intron_variant,,ENST00000529131,;C9orf135,intron_variant,,ENST00000529446,;	325	68	39	SUCCESS
DMD	1756	.	GRCh37	X	31496267	31496267	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs398124077	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	106	0	ENST00000357033.4:c.8893G>T	p.Asp2965Tyr	p.D2965Y	ENST00000357033	NM_004007.2	2965	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS14233.1	8893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GAGATCGCCCA	BUFFER|p.V2963M|c.8887G>A|3,BUFFER|p.V2959M|c.8875G>A|3,BUFFER|p.V503M|c.1507G>A|3,BUFFER|p.V1622M|c.4864G>A|3,BUFFER|p.V2959M|c.8875G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	59/79	.	.	.	.	.	.	.	.	rs398124077,COSM1467533,COSM319917,COSM1467531,COSM319919,COSM1467532,COSM319920,COSM1467535,COSM319918,COSM1467534	59/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.963)	.	.	0,1,1,1,1,1,1,1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Asp2965Tyr,ENST00000357033,;DMD,missense_variant,p.Asp661Tyr,ENST00000358062,;DMD,missense_variant,p.Asp505Tyr,ENST00000343523,;DMD,missense_variant,p.Asp505Tyr,ENST00000378707,;DMD,missense_variant,p.Asp505Tyr,ENST00000474231,;DMD,missense_variant,p.Asp2961Tyr,ENST00000378677,;DMD,missense_variant,p.Asp505Tyr,ENST00000359836,;DMD,missense_variant,p.Asp505Tyr,ENST00000541735,;DMD,downstream_gene_variant,,ENST00000445312,;	9100	106	98	SUCCESS
PRRG1	5638	.	GRCh37	X	37285115	37285115	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	120	520	1	ENST00000378628.4:c.33C>A	p.Ala11=	p.A11=	ENST00000378628	NM_001142395.1	11	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14239.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCAATTC	NONE	.	.	hmmpanther:PTHR24251,SMART_domains:SM00069	.	.	ENSP00000444278	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000542554	Transcript	.	.	ENSG00000130962	9469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMG1_HUMAN	PRRG1	HGNC	C9JNY5_HUMAN,C9J6P5_HUMAN	.	UPI0000137077	SNV	PRRG1,synonymous_variant,p.%3D,ENST00000463135,;PRRG1,synonymous_variant,p.%3D,ENST00000466533,;TM4SF2,synonymous_variant,p.%3D,ENST00000465127,;PRRG1,synonymous_variant,p.%3D,ENST00000543642,;PRRG1,synonymous_variant,p.%3D,ENST00000542554,;PRRG1,synonymous_variant,p.%3D,ENST00000449135,;PRRG1,synonymous_variant,p.%3D,ENST00000484460,;PRRG1,synonymous_variant,p.%3D,ENST00000378628,;PRRG1,intron_variant,,ENST00000491253,;PRRG1,non_coding_transcript_exon_variant,,ENST00000470290,;	305	521	327	SUCCESS
AMER1	139285	.	GRCh37	X	63412194	63412194	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	8	87	0	ENST00000330258.3:c.973T>C	p.Leu325=	p.L325=	ENST00000330258	NM_152424.3	325	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS14377.2	973	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAATGAAT	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0,Pfam_domain:PF09422	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,synonymous_variant,p.%3D,ENST00000374869,;AMER1,synonymous_variant,p.%3D,ENST00000403336,;AMER1,synonymous_variant,p.%3D,ENST00000330258,;	1246	87	78	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49658744	49658744	+	synonymous_variant	Silent	SNP	C	C	T	rs1337533758	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	63	0	ENST00000249601.4:c.1428G>A	p.Ser476=	p.S476=	ENST00000249601	NM_021226.3	476	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS58080.1	1476	MUTECT|MUSE	.	TCTCCCGACGA	NONE	.	.	hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521	.	.	ENSP00000412461	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,synonymous_variant,p.%3D,ENST00000435790,;ARHGAP22,synonymous_variant,p.%3D,ENST00000374170,;ARHGAP22,synonymous_variant,p.%3D,ENST00000249601,;ARHGAP22,synonymous_variant,p.%3D,ENST00000374172,;ARHGAP22,synonymous_variant,p.%3D,ENST00000477708,;ARHGAP22,synonymous_variant,p.%3D,ENST00000417912,;ARHGAP22,synonymous_variant,p.%3D,ENST00000417247,;ARHGAP22,downstream_gene_variant,,ENST00000471013,;ARHGAP22,downstream_gene_variant,,ENST00000515523,;ARHGAP22,downstream_gene_variant,,ENST00000489984,;ARHGAP22,3_prime_UTR_variant,,ENST00000460425,;	1632	63	30	SUCCESS
OR10G7	390265	.	GRCh37	11	123909545	123909545	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758986910	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	83	265	0	ENST00000330487.5:c.164C>T	p.Thr55Ile	p.T55I	ENST00000330487	NM_001004463.1	55	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31705.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGTGTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF7,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000329689	.	1/1	.	.	.	.	.	.	.	.	rs758986910	1/1	PASS	ENST00000330487	Transcript	.	.	ENSG00000182634	14842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	tolerated(0.06)	.	O10G7_HUMAN	OR10G7	HGNC	.	.	UPI0000040A84	SNV	OR10G7,missense_variant,p.Thr55Ile,ENST00000330487,;	173	266	260	SUCCESS
CD81	975	.	GRCh37	11	2416714	2416715	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AA	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	76	0	ENST00000263645.5:c.424_425dup	p.Asn142LysfsTer7	p.N142Kfs*7	ENST00000263645	NM_004356.3	141	-/AA	0	.	.	.	.	.	AA	-/X	protein_coding	YES	CCDS7734.1	423-424	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAACAACGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19282:SF209,hmmpanther:PTHR19282,Pfam_domain:PF00335,Gene3D:1g8qA00,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	.	.	ENSP00000263645	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000263645	Transcript	.	.	ENSG00000110651	1701	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD81_HUMAN	CD81	HGNC	E9PPF5_HUMAN,E9PM31_HUMAN,E9PJK1_HUMAN	.	UPI0000047033	insertion	CD81,frameshift_variant,p.Asn135LysfsTer7,ENST00000492252,;CD81,frameshift_variant,p.Asn137LysfsTer7,ENST00000533417,;CD81,frameshift_variant,p.Asn131LysfsTer7,ENST00000527343,;CD81,frameshift_variant,p.Asn142LysfsTer7,ENST00000263645,;CD81,frameshift_variant,p.Asn71LysfsTer7,ENST00000526072,;CD81,frameshift_variant,p.Asn180LysfsTer7,ENST00000381036,;CD81,frameshift_variant,p.Asn127LysfsTer7,ENST00000464784,;CD81,frameshift_variant,p.Asn71LysfsTer7,ENST00000475945,;CD81,frameshift_variant,p.Asn71LysfsTer7,ENST00000492627,;CD81,frameshift_variant,p.Asn148LysfsTer7,ENST00000481687,;CD81,downstream_gene_variant,,ENST00000493525,;CD81,downstream_gene_variant,,ENST00000530648,;CD81,non_coding_transcript_exon_variant,,ENST00000524805,;CD81,non_coding_transcript_exon_variant,,ENST00000468153,;CD81,non_coding_transcript_exon_variant,,ENST00000531840,;CD81,non_coding_transcript_exon_variant,,ENST00000530239,;CD81,upstream_gene_variant,,ENST00000481386,;	679-680	76	78	SUCCESS
SART1	9092	.	GRCh37	11	65743929	65743929	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1455403613	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	33	0	ENST00000312397.5:c.1636G>A	p.Glu546Lys	p.E546K	ENST00000312397	NM_005146.4	546	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31611.1	1636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGAGCGG	NONE	.	.	hmmpanther:PTHR14152:SF5,hmmpanther:PTHR14152,Pfam_domain:PF03343	.	.	ENSP00000310448	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000312397	Transcript	.	.	ENSG00000175467	10538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.25)	.	SNUT1_HUMAN	SART1	HGNC	.	.	UPI00000732D5	SNV	SART1,missense_variant,p.Glu546Lys,ENST00000312397,;SART1,upstream_gene_variant,,ENST00000529580,;SART1,upstream_gene_variant,,ENST00000528137,;SART1,upstream_gene_variant,,ENST00000533386,;	1728	33	22	SUCCESS
ADIPOR2	79602	.	GRCh37	12	1893123	1893123	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750803822	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	60	132	0	ENST00000357103.4:c.916G>A	p.Ala306Thr	p.A306T	ENST00000357103	NM_024551.2	306	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8511.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCCACC	NONE	.	.	hmmpanther:PTHR20855:SF33,hmmpanther:PTHR20855,Pfam_domain:PF03006	.	.	ENSP00000349616	.	7/8	.	.	.	.	.	.	.	.	rs750803822,COSM1360473	7/8	PASS	ENST00000357103	Transcript	.	.	ENSG00000006831	24041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	.	tolerated(0.58)	0,1	ADR2_HUMAN	ADIPOR2	HGNC	.	.	UPI000019273B	SNV	ADIPOR2,missense_variant,p.Ala306Thr,ENST00000357103,;ADIPOR2,downstream_gene_variant,,ENST00000537190,;ADIPOR2,downstream_gene_variant,,ENST00000535774,;	1167	132	100	SUCCESS
AEBP2	121536	.	GRCh37	12	19671217	19671217	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	31	0	ENST00000398864.3:c.1508+170T>A		p.*503*	ENST00000398864	NM_001114176.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44841.1	.	MUTECT|MUSE	.	CATTCTGTGAA	NONE	.	.	.	.	.	ENSP00000381840	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398864	Transcript	.	.	ENSG00000139154	24051	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AEBP2_HUMAN	AEBP2	HGNC	G5EA50_HUMAN,F5GZR7_HUMAN	.	UPI00002290BB	SNV	AEBP2,3_prime_UTR_variant,,ENST00000266508,;AEBP2,intron_variant,,ENST00000512223,;AEBP2,intron_variant,,ENST00000398731,;AEBP2,intron_variant,,ENST00000360995,;AEBP2,intron_variant,,ENST00000398864,;AEBP2,downstream_gene_variant,,ENST00000541908,;	.	31	17	SUCCESS
SLITRK5	26050	.	GRCh37	13	88329198	88329198	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372673658	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	30	84	0	ENST00000325089.6:c.1555G>A	p.Ala519Thr	p.A519T	ENST00000325089	NM_015567.1	519	Gcc/Acc	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS9465.1	1555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCCATG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	A:0.0001	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	rs372673658	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.91)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Ala519Thr,ENST00000325089,;SLITRK5,missense_variant,p.Ala278Thr,ENST00000400028,;	1774	84	45	SUCCESS
METTL17	64745	.	GRCh37	14	21464877	21464877	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	60	0	ENST00000339374.6:c.1265+7G>T		p.X422_splice	ENST00000339374	NM_001029991.1	422		0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41913.1	1272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGGGGGTG	NONE	.	.	.	.	.	ENSP00000372445	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000382985	Transcript	.	.	ENSG00000165792	19280	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET17_HUMAN	METTL17	HGNC	G3V4P2_HUMAN,G3V3X6_HUMAN,G3V353_HUMAN	.	UPI00001410AF	SNV	METTL17,synonymous_variant,p.%3D,ENST00000382985,;METTL17,splice_region_variant,,ENST00000556670,;METTL17,splice_region_variant,,ENST00000556733,;METTL17,splice_region_variant,,ENST00000339374,;METTL17,downstream_gene_variant,,ENST00000554751,;METTL17,downstream_gene_variant,,ENST00000553564,;SLC39A2,upstream_gene_variant,,ENST00000298681,;SLC39A2,upstream_gene_variant,,ENST00000554422,;METTL17,downstream_gene_variant,,ENST00000555670,;METTL17,downstream_gene_variant,,ENST00000554283,;RP11-84C10.4,intron_variant,,ENST00000557335,;METTL17,intron_variant,,ENST00000554354,;METTL17,downstream_gene_variant,,ENST00000555177,;METTL17,splice_region_variant,,ENST00000554849,;METTL17,splice_region_variant,,ENST00000553389,;METTL17,splice_region_variant,,ENST00000557550,;METTL17,3_prime_UTR_variant,,ENST00000555533,;METTL17,3_prime_UTR_variant,,ENST00000555640,;METTL17,downstream_gene_variant,,ENST00000555902,;SLC39A2,upstream_gene_variant,,ENST00000554128,;METTL17,downstream_gene_variant,,ENST00000553441,;METTL17,downstream_gene_variant,,ENST00000554985,;METTL17,downstream_gene_variant,,ENST00000555390,;METTL17,downstream_gene_variant,,ENST00000553536,;METTL17,downstream_gene_variant,,ENST00000554588,;METTL17,downstream_gene_variant,,ENST00000557701,;METTL17,downstream_gene_variant,,ENST00000554949,;METTL17,downstream_gene_variant,,ENST00000557279,;	1295	60	41	SUCCESS
SPPL2A	84888	.	GRCh37	15	51039809	51039809	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	87	191	0	ENST00000261854.5:c.467T>G	p.Ile156Ser	p.I156S	ENST00000261854	NM_032802.3	156	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS10138.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAATGTTA	NONE	.	.	hmmpanther:PTHR12174:SF34,hmmpanther:PTHR12174,Gene3D:3.50.30.30,Superfamily_domains:SSF52025	.	.	ENSP00000261854	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000261854	Transcript	.	.	ENSG00000138600	30227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	deleterious(0)	.	SPP2A_HUMAN	SPPL2A	HGNC	H0YNA7_HUMAN	.	UPI0000013591	SNV	SPPL2A,missense_variant,p.Ile114Ser,ENST00000558414,;SPPL2A,missense_variant,p.Ile156Ser,ENST00000261854,;SPPL2A,upstream_gene_variant,,ENST00000558934,;RP11-507J18.2,intron_variant,,ENST00000558317,;SPPL2A,downstream_gene_variant,,ENST00000560288,;SPPL2A,upstream_gene_variant,,ENST00000559527,;	742	191	152	SUCCESS
IDH2	3418	.	GRCh37	15	90631838	90631838	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913503	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	138	0	ENST00000330062.3:c.515G>A	p.Arg172Lys	p.R172K	ENST00000330062	NM_002168.2	172	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS10359.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCCTGCCA	SITE|p.R172K|c.515G>A|175,CODON|p.R172S|c.516G>T|22,CODON|p.R172S|c.516G>C|7,CODON|p.R172M|c.515G>T|28,BUFFER|p.R172G|c.514A>G|4,BUFFER|p.R172W|c.514A>T|18,BUFFER|p.G171D|c.512G>A|5	.	.	hmmpanther:PTHR11822,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,Gene3D:3.40.718.10,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	.	.	ENSP00000331897	.	4/11	.	.	.	.	.	.	.	.	rs121913503,COSM33732,COSM33733,COSM1636997	4/11	PASS	ENST00000330062	Transcript	1	.	ENSG00000182054	5383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	0,1,1,1	IDHP_HUMAN	IDH2	HGNC	H0YLL5_HUMAN,B4DSZ6_HUMAN,B4DFL2_HUMAN	.	UPI000012D1C3	SNV	IDH2,missense_variant,p.Arg42Lys,ENST00000539790,;IDH2,missense_variant,p.Arg172Lys,ENST00000330062,;IDH2,missense_variant,p.Arg120Lys,ENST00000540499,;IDH2,intron_variant,,ENST00000559482,;IDH2,3_prime_UTR_variant,,ENST00000560061,;	629	138	91	SUCCESS
XYLT1	64131	.	GRCh37	16	17353089	17353089	+	synonymous_variant	Silent	SNP	G	G	A	rs772956681	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	63	133	0	ENST00000261381.6:c.669C>T	p.Ala223=	p.A223=	ENST00000261381	NM_022166.3	223	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10569.1	669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGCTCT	NONE	.	.	hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91	.	.	ENSP00000261381	.	3/12	.	.	.	.	.	.	.	.	rs772956681,COSM556845	3/12	PASS	ENST00000261381	Transcript	.	.	ENSG00000103489	15516	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	XYLT1_HUMAN	XYLT1	HGNC	.	.	UPI000000DCCE	SNV	XYLT1,synonymous_variant,p.%3D,ENST00000261381,;XYLT1,upstream_gene_variant,,ENST00000575674,;	754	133	142	SUCCESS
TBC1D26	353149	.	GRCh37	17	15644532	15644532	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs769403998	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	35	0	ENST00000469477.2:c.643G>A	p.Ala215Thr	p.A215T	ENST00000469477		215	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS42265.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGCTGGT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF242,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000410111	.	10/15	.	.	.	.	.	.	.	.	rs769403998	10/15	PASS	ENST00000437605	Transcript	.	.	ENSG00000214946	28745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.8)	.	TBC26_HUMAN	TBC1D26	HGNC	J3QQK9_HUMAN,J3QLL4_HUMAN	.	UPI0000246DD7	SNV	TBC1D26,missense_variant,p.Ala215Thr,ENST00000437605,;TBC1D26,downstream_gene_variant,,ENST00000464963,;ZNF286A,downstream_gene_variant,,ENST00000593105,;TBC1D26,downstream_gene_variant,,ENST00000579428,;AC005324.6,intron_variant,,ENST00000433873,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,intron_variant,,ENST00000580194,;TBC1D26,missense_variant,p.Ala215Thr,ENST00000469477,;ZNF286A,3_prime_UTR_variant,,ENST00000413242,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000580970,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;ZNF286A,downstream_gene_variant,,ENST00000412988,;	893	35	20	SUCCESS
SPAG5	10615	.	GRCh37	17	26906776	26906776	+	synonymous_variant	Silent	SNP	C	C	T	rs1437169387	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	49	0	ENST00000321765.5:c.2877G>A	p.Gln959=	p.Q959=	ENST00000321765	NM_006461.3	959	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS32594.1	2877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCTGAAG	NONE	.	.	hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0	.	.	ENSP00000323300	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000321765	Transcript	.	.	ENSG00000076382	13452	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAG5_HUMAN	SPAG5	HGNC	.	.	UPI0000073414	SNV	SPAG5,synonymous_variant,p.%3D,ENST00000321765,;ALDOC,upstream_gene_variant,,ENST00000226253,;RP11-192H23.4,downstream_gene_variant,,ENST00000531839,;ALDOC,upstream_gene_variant,,ENST00000581807,;SPAG5,downstream_gene_variant,,ENST00000584206,;ALDOC,upstream_gene_variant,,ENST00000578590,;ALDOC,upstream_gene_variant,,ENST00000395319,;ALDOC,upstream_gene_variant,,ENST00000460201,;ALDOC,upstream_gene_variant,,ENST00000584086,;SPAG5,upstream_gene_variant,,ENST00000582076,;ALDOC,upstream_gene_variant,,ENST00000435638,;ALDOC,upstream_gene_variant,,ENST00000395321,;SPAG5,3_prime_UTR_variant,,ENST00000378976,;SPAG5,non_coding_transcript_exon_variant,,ENST00000581133,;SPAG5,non_coding_transcript_exon_variant,,ENST00000580406,;SPAG5,non_coding_transcript_exon_variant,,ENST00000577259,;SPAG5,non_coding_transcript_exon_variant,,ENST00000580682,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,upstream_gene_variant,,ENST00000582175,;SPAG5,downstream_gene_variant,,ENST00000578230,;SPAG5,upstream_gene_variant,,ENST00000580676,;SPAG5,upstream_gene_variant,,ENST00000580377,;ALDOC,upstream_gene_variant,,ENST00000582381,;SPAG5,downstream_gene_variant,,ENST00000580083,;	3210	49	43	SUCCESS
MED29	55588	.	GRCh37	19	39883132	39883133	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GATTCAGAAC	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	76	0	ENST00000599213.2:c.246_255dup	p.Thr86AspfsTer5	p.T86Dfs*5	ENST00000599213		82	ttg/ttGATTCAGAACg	0	.	.	.	.	.	GATTCAGAAC	L/LIQNX	protein_coding	YES	CCDS33021.1	308-309	INDELOCATOR|VARSCANI	.	AAACTTGATTC	NONE	.	.	Pfam_domain:PF11568	.	.	ENSP00000314343	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000315588	Transcript	.	.	ENSG00000063322	23074	10	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MED29	HGNC	B4DUA7_HUMAN,B4DN56_HUMAN,B4DGM4_HUMAN	.	UPI00001D81AE	insertion	MED29,frameshift_variant,p.Thr86AspfsTer5,ENST00000594368,;MED29,frameshift_variant,p.Thr86AspfsTer5,ENST00000599213,;MED29,frameshift_variant,p.Thr107AspfsTer5,ENST00000315588,;MED29,frameshift_variant,p.Thr86AspfsTer5,ENST00000596297,;PAF1,upstream_gene_variant,,ENST00000221265,;PAF1,upstream_gene_variant,,ENST00000595564,;PAF1,upstream_gene_variant,,ENST00000221266,;MED29,frameshift_variant,p.Thr86AspfsTer5,ENST00000600973,;MED29,intron_variant,,ENST00000599417,;PAF1,upstream_gene_variant,,ENST00000416728,;PAF1,upstream_gene_variant,,ENST00000598594,;PAF1,upstream_gene_variant,,ENST00000597365,;PAF1,upstream_gene_variant,,ENST00000595797,;PAF1,upstream_gene_variant,,ENST00000598127,;	357-358	76	49	SUCCESS
RCN3	57333	.	GRCh37	19	50031779	50031779	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	72	0	ENST00000270645.3:c.50G>A	p.Gly17Glu	p.G17E	ENST00000270645	NM_020650.2	17	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12771.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGGGGCCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10827:SF47,hmmpanther:PTHR10827	.	.	ENSP00000270645	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000270645	Transcript	.	.	ENSG00000142552	21145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.27)	.	RCN3_HUMAN	RCN3	HGNC	.	.	UPI000000D8C5	SNV	RCN3,missense_variant,p.Gly17Glu,ENST00000597801,;RCN3,missense_variant,p.Gly17Glu,ENST00000270645,;FCGRT,downstream_gene_variant,,ENST00000221466,;FCGRT,downstream_gene_variant,,ENST00000598076,;FCGRT,downstream_gene_variant,,ENST00000596975,;FCGRT,downstream_gene_variant,,ENST00000593381,;RCN3,upstream_gene_variant,,ENST00000598833,;FCGRT,downstream_gene_variant,,ENST00000599988,;FCGRT,downstream_gene_variant,,ENST00000426395,;RCN3,upstream_gene_variant,,ENST00000593644,;FCGRT,downstream_gene_variant,,ENST00000594823,;FCGRT,downstream_gene_variant,,ENST00000593431,;FCGRT,downstream_gene_variant,,ENST00000596147,;FCGRT,downstream_gene_variant,,ENST00000598949,;FCGRT,downstream_gene_variant,,ENST00000598319,;FCGRT,downstream_gene_variant,,ENST00000598927,;FCGRT,downstream_gene_variant,,ENST00000598936,;FCGRT,downstream_gene_variant,,ENST00000452439,;FCGRT,downstream_gene_variant,,ENST00000595881,;	497	72	71	SUCCESS
POLD1	5424	.	GRCh37	19	50917028	50917028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	45	0	ENST00000440232.2:c.2280G>T	p.Met760Ile	p.M760I	ENST00000440232	NM_002691.3	760	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS12795.1	2280	RADIA|MUTECT|MUSE|VARSCANS	.	GTCATGTGCCG	NONE	.	.	Superfamily_domains:SSF56672,SMART_domains:SM00486,Pfam_domain:PF00136,TIGRFAM_domain:TIGR00592,Gene3D:2py5A02,PROSITE_patterns:PS00116,hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF11	.	.	ENSP00000406046	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000440232	Transcript	1	.	ENSG00000062822	9175	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	DPOD1_HUMAN	POLD1	HGNC	M0R2J2_HUMAN	.	UPI000007288E	SNV	POLD1,missense_variant,p.Met786Ile,ENST00000595904,;POLD1,missense_variant,p.Met760Ile,ENST00000440232,;POLD1,missense_variant,p.Met760Ile,ENST00000599857,;POLD1,missense_variant,p.Met17Ile,ENST00000593407,;POLD1,upstream_gene_variant,,ENST00000593981,;CTD-2545M3.6,upstream_gene_variant,,ENST00000599632,;POLD1,downstream_gene_variant,,ENST00000596425,;POLD1,missense_variant,p.Met760Ile,ENST00000600859,;POLD1,upstream_gene_variant,,ENST00000596221,;POLD1,upstream_gene_variant,,ENST00000597963,;POLD1,upstream_gene_variant,,ENST00000596648,;	2333	45	52	SUCCESS
FPR1	2357	.	GRCh37	19	52249927	52249927	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	73	0	ENST00000304748.4:c.321C>A	p.Ile107=	p.I107=	ENST00000304748	NM_002029.3	107	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12839.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTGATGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00526,Prints_domain:PR00237	.	.	ENSP00000471493	.	3/3	.	.	.	.	.	.	.	.	COSM1158333	3/3	PASS	ENST00000595042	Transcript	.	.	ENSG00000171051	3826	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FPR1_HUMAN	FPR1	HGNC	M0R315_HUMAN,M0QZT0_HUMAN	.	UPI0000050484	SNV	FPR1,synonymous_variant,p.%3D,ENST00000600815,;FPR1,synonymous_variant,p.%3D,ENST00000304748,;FPR1,synonymous_variant,p.%3D,ENST00000595042,;FPR1,downstream_gene_variant,,ENST00000594900,;	463	73	93	SUCCESS
SSC5D	284297	.	GRCh37	19	56011599	56011599	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs945743306	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	31	0	ENST00000389623.6:c.2122C>T	p.Arg708Trp	p.R708W	ENST00000389623	NM_001144950.1	708	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS46196.1	2122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAACGGACC	NONE	.	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF21	.	.	ENSP00000374274	.	10/14	.	.	.	.	.	.	.	.	COSM1396600	10/14	PASS	ENST00000389623	Transcript	.	.	ENSG00000179954	26641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.013)	.	.	1	SRCRL_HUMAN	SSC5D	HGNC	M0QZ17_HUMAN	.	UPI000192952A	SNV	SSC5D,missense_variant,p.Arg708Trp,ENST00000389623,;SSC5D,missense_variant,p.Arg708Trp,ENST00000587166,;SSC5D,downstream_gene_variant,,ENST00000589020,;	2145	31	33	SUCCESS
TNN	63923	.	GRCh37	1	175048581	175048581	+	synonymous_variant	Silent	SNP	G	G	A	rs374925420	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	33	0	ENST00000239462.4:c.522G>A	p.Ala174=	p.A174=	ENST00000239462	NM_022093.1	174	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS30943.1	522	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGGCGTGCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,SMART_domains:SM00181	.	A:0.0001	ENSP00000239462	.	3/19	.	.	.	.	.	.	.	.	rs374925420,COSM4025304	3/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,synonymous_variant,p.%3D,ENST00000239462,;	635	33	40	SUCCESS
MIA3	375056	.	GRCh37	1	222817928	222817928	+	intron_variant	Intron	SNP	G	G	A	rs1313675168	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	73	0	ENST00000344922.5:c.3478-968G>A		p.*1160*	ENST00000344922	NM_198551.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41470.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGTGAC	NONE	.	.	.	.	.	ENSP00000340900	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	MODIFIER	6/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,synonymous_variant,p.%3D,ENST00000340535,;MIA3,intron_variant,,ENST00000354906,;MIA3,intron_variant,,ENST00000344922,;MIA3,intron_variant,,ENST00000344441,;MIA3,intron_variant,,ENST00000344507,;MIA3,splice_region_variant,,ENST00000495210,;MIA3,intron_variant,,ENST00000470521,;MIA3,upstream_gene_variant,,ENST00000467190,;RP11-378J18.6,upstream_gene_variant,,ENST00000413568,;	.	73	70	SUCCESS
ADRM1	11047	.	GRCh37	20	60882773	60882773	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767047144	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	46	0	ENST00000253003.2:c.745G>C	p.Gly249Arg	p.G249R	ENST00000253003	NM_175573.2	249	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS13496.1	745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGGGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12225	.	.	ENSP00000253003	.	7/10	.	.	.	.	.	.	.	.	rs767047144	7/10	PASS	ENST00000253003	Transcript	.	.	ENSG00000130706	15759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.34)	.	ADRM1_HUMAN	ADRM1	HGNC	.	.	UPI0000125605	SNV	ADRM1,missense_variant,p.Gly249Arg,ENST00000253003,;LAMA5,downstream_gene_variant,,ENST00000252999,;RP11-157P1.4,upstream_gene_variant,,ENST00000414042,;ADRM1,downstream_gene_variant,,ENST00000465805,;LAMA5,downstream_gene_variant,,ENST00000492698,;ADRM1,downstream_gene_variant,,ENST00000491935,;ADRM1,downstream_gene_variant,,ENST00000462554,;LAMA5,downstream_gene_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000491036,;LAMA5,downstream_gene_variant,,ENST00000370691,;	791	46	59	SUCCESS
ITGB2	3689	.	GRCh37	21	46309959	46309959	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	88	0	ENST00000302347.5:c.1591G>A	p.Gly531Arg	p.G531R	ENST00000302347	NM_000211.3	531	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13716.1	1591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGTATA	NONE	.	.	PIRSF_domain:PIRSF002512,Gene3D:2.10.25.10,hmmpanther:PTHR10082:SF15,hmmpanther:PTHR10082	.	.	ENSP00000380948	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Gly531Arg,ENST00000397850,;ITGB2,missense_variant,p.Gly531Arg,ENST00000355153,;ITGB2,missense_variant,p.Gly531Arg,ENST00000397852,;ITGB2,missense_variant,p.Gly531Arg,ENST00000397857,;ITGB2,missense_variant,p.Gly531Arg,ENST00000302347,;ITGB2,missense_variant,p.Gly474Arg,ENST00000397854,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,non_coding_transcript_exon_variant,,ENST00000475170,;ITGB2,upstream_gene_variant,,ENST00000479202,;	2044	88	77	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	20	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	20	15	SUCCESS
PMM1	5372	.	GRCh37	22	41980580	41980580	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1199024885	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	51	0	ENST00000216259.7:c.233C>T	p.Ala78Val	p.A78V	ENST00000216259	NM_002676.2	78	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS14020.1	233	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGGCAAAC	NONE	.	.	hmmpanther:PTHR10466,hmmpanther:PTHR10466:SF1,TIGRFAM_domain:TIGR01484,Pfam_domain:PF03332,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	.	.	ENSP00000216259	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000216259	Transcript	.	.	ENSG00000100417	9114	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.182)	.	deleterious(0.03)	.	PMM1_HUMAN	PMM1	HGNC	.	.	UPI00000302B6	SNV	PMM1,missense_variant,p.Ala78Val,ENST00000216259,;PMM1,non_coding_transcript_exon_variant,,ENST00000466645,;PMM1,3_prime_UTR_variant,,ENST00000414636,;PMM1,non_coding_transcript_exon_variant,,ENST00000485648,;PMM1,non_coding_transcript_exon_variant,,ENST00000478337,;PMM1,non_coding_transcript_exon_variant,,ENST00000482178,;PMM1,non_coding_transcript_exon_variant,,ENST00000472620,;PMM1,upstream_gene_variant,,ENST00000463617,;PMM1,downstream_gene_variant,,ENST00000493389,;	318	51	31	SUCCESS
DYTN	391475	.	GRCh37	2	207528078	207528078	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	71	170	1	ENST00000452335.2:c.1182A>G	p.Gln394=	p.Q394=	ENST00000452335	NM_001093730.1	394	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS46502.1	1182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTTTGAAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	.	.	ENSP00000396593	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000452335	Transcript	.	.	ENSG00000232125	23279	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYTN_HUMAN	DYTN	HGNC	.	.	UPI0000EE0AB9	SNV	DYTN,synonymous_variant,p.%3D,ENST00000452335,;	1299	172	120	SUCCESS
SPTBN1	6711	.	GRCh37	2	54857137	54857137	+	synonymous_variant	Silent	SNP	C	C	T	rs760275661	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	23	0	ENST00000356805.4:c.2778C>T	p.Ile926=	p.I926=	ENST00000356805	NM_003128.2	926	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS33198.1	2778	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAAATCAAAGC	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	15/36	.	.	.	.	.	.	.	.	rs760275661	15/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,synonymous_variant,p.%3D,ENST00000333896,;SPTBN1,synonymous_variant,p.%3D,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000389980,;	3059	23	22	SUCCESS
USP34	9736	.	GRCh37	2	61447525	61447525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375628616	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	113	0	ENST00000398571.2:c.7967C>T	p.Ala2656Val	p.A2656V	ENST00000398571	NM_014709.3	2656	gCa/gTa	0	A:0.0003	.	.	.	.	A	A/V	protein_coding	YES	CCDS42686.1	7967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGCCAGT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97	.	A:0	ENSP00000381577	.	67/80	.	.	.	.	.	.	.	.	rs375628616	67/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.412)	.	tolerated(0.18)	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,missense_variant,p.Ala416Val,ENST00000411912,;USP34,missense_variant,p.Ala2656Val,ENST00000398571,;USP34,non_coding_transcript_exon_variant,,ENST00000472706,;USP34,non_coding_transcript_exon_variant,,ENST00000472689,;USP34,upstream_gene_variant,,ENST00000476716,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;USP34,non_coding_transcript_exon_variant,,ENST00000483672,;USP34,non_coding_transcript_exon_variant,,ENST00000490527,;USP34,downstream_gene_variant,,ENST00000487547,;USP34,downstream_gene_variant,,ENST00000468703,;USP34,downstream_gene_variant,,ENST00000482250,;	8044	114	99	SUCCESS
STXBP5L	9515	.	GRCh37	3	120941851	120941851	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs757487745	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	49	129	0	ENST00000273666.6:c.958G>A	p.Glu320Lys	p.E320K	ENST00000273666	NM_014980.2	320	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43137.1	958	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGAACCA	NONE	byFrequency	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08366	.	.	ENSP00000273666	.	11/28	.	.	.	.	.	.	.	.	rs757487745,COSM3585876	11/28	PASS	ENST00000273666	Transcript	.	.	ENSG00000145087	30757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	STB5L_HUMAN	STXBP5L	HGNC	C9JUZ7_HUMAN	.	UPI00001C1DEA	SNV	STXBP5L,missense_variant,p.Glu320Lys,ENST00000471262,;STXBP5L,missense_variant,p.Glu320Lys,ENST00000472879,;STXBP5L,missense_variant,p.Glu320Lys,ENST00000273666,;STXBP5L,missense_variant,p.Glu320Lys,ENST00000471454,;STXBP5L,missense_variant,p.Glu320Lys,ENST00000492541,;STXBP5L,missense_variant,p.Glu320Lys,ENST00000497029,;	1229	129	120	SUCCESS
ZBBX	79740	.	GRCh37	3	166960379	166960379	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	80	0	ENST00000392766.2:c.2190C>T	p.Ser730=	p.S730=	ENST00000392766	NM_001199201.1	730	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS56296.1	2307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGCTGAA	NONE	.	.	.	.	.	ENSP00000390232	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000455345	Transcript	.	.	ENSG00000169064	26245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBBX_HUMAN	ZBBX	HGNC	C9JVV2_HUMAN	.	UPI000020A746	SNV	ZBBX,synonymous_variant,p.%3D,ENST00000455345,;ZBBX,synonymous_variant,p.%3D,ENST00000392767,;ZBBX,synonymous_variant,p.%3D,ENST00000392766,;ZBBX,synonymous_variant,p.%3D,ENST00000307529,;ZBBX,synonymous_variant,p.%3D,ENST00000392764,;ZBBX,3_prime_UTR_variant,,ENST00000494898,;ZBBX,3_prime_UTR_variant,,ENST00000492642,;ZBBX,3_prime_UTR_variant,,ENST00000464922,;ZBBX,non_coding_transcript_exon_variant,,ENST00000465071,;	2591	80	71	SUCCESS
PCDH12	51294	.	GRCh37	5	141336991	141336991	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	44	116	0	ENST00000231484.3:c.426G>T	p.Leu142=	p.L142=	ENST00000231484	NM_016580.3	142	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4269.1	426	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATTTCCAGCTC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF42,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231484	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000231484	Transcript	.	.	ENSG00000113555	8657	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCD12_HUMAN	PCDH12	HGNC	E5RJD4_HUMAN	.	UPI00001313B4	SNV	PCDH12,synonymous_variant,p.%3D,ENST00000231484,;RNF14,upstream_gene_variant,,ENST00000506822,;RNF14,upstream_gene_variant,,ENST00000511961,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	1637	116	83	SUCCESS
ARHGEF28	64283	.	GRCh37	5	73069677	73069677	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	49	0	ENST00000426542.2:c.476-3C>A		p.X159_splice	ENST00000426542		159		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47231.2	.	RADIA|VARSCANS	.	CTCTTCAGTAT	NONE	.	.	.	.	.	ENSP00000441913	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545377	Transcript	.	.	ENSG00000214944	30322	.	.	LOW	4/36	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARG28_HUMAN	ARHGEF28	HGNC	D6RAP0_HUMAN	.	UPI00004DF58E	SNV	ARHGEF28,splice_region_variant,,ENST00000437974,;ARHGEF28,splice_region_variant,,ENST00000513042,;ARHGEF28,splice_region_variant,,ENST00000287898,;ARHGEF28,splice_region_variant,,ENST00000545377,;ARHGEF28,splice_region_variant,,ENST00000426542,;ARHGEF28,splice_region_variant,,ENST00000296794,;CTC-575I10.1,downstream_gene_variant,,ENST00000506717,;	.	49	38	SUCCESS
ANKRD32	0	.	GRCh37	5	94022380	94022380	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	11	150	1	ENST00000265140.5:c.2078G>T	p.Ser693Ile	p.S693I	ENST00000265140	NM_032290.3	693	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS4071.2	2078	MUTECT|MUSE	.	ACAGAGCTCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22	.	.	ENSP00000265140	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000265140	Transcript	.	.	ENSG00000133302	25408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.11)	.	deleterious(0.04)	.	ANR32_HUMAN	ANKRD32	HGNC	I6L9F1_HUMAN,D6RED9_HUMAN	.	UPI000066D9F9	SNV	ANKRD32,missense_variant,p.Ser693Ile,ENST00000265140,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000450932,;ANKRD32,upstream_gene_variant,,ENST00000475916,;	2497	151	154	SUCCESS
FAM65B	0	.	GRCh37	6	24869375	24869375	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	8	257	0	ENST00000259698.4:c.361C>A	p.Gln121Lys	p.Q121K	ENST00000259698	NM_014722.2	121	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS47383.1	361	MUTECT|MUSE	.	AATTTGCTGGA	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2	.	.	ENSP00000259698	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000259698	Transcript	.	.	ENSG00000111913	13872	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.755)	.	deleterious(0)	.	FA65B_HUMAN	FAM65B	HGNC	H3BP45_HUMAN	.	UPI0000EE554D	SNV	FAM65B,missense_variant,p.Gln150Lys,ENST00000538035,;FAM65B,missense_variant,p.Gln121Lys,ENST00000378023,;FAM65B,missense_variant,p.Gln121Lys,ENST00000540914,;FAM65B,missense_variant,p.Gln121Lys,ENST00000259698,;FAM65B,missense_variant,p.Gln155Lys,ENST00000510784,;	537	257	235	SUCCESS
ZNF311	282890	.	GRCh37	6	28963999	28963999	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	45	122	0	ENST00000377179.3:c.780A>C	p.Ser260=	p.S260=	ENST00000377179	NM_001010877.2	260	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS34357.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTGAGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF273,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000366384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377179	Transcript	.	.	ENSG00000197935	13847	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN311_HUMAN	ZNF311	HGNC	.	.	UPI000020D71E	SNV	ZNF311,synonymous_variant,p.%3D,ENST00000377179,;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,;	1293	122	148	SUCCESS
ENPP5	59084	.	GRCh37	6	46129492	46129492	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	22	0	ENST00000230565.3:c.1007-2A>G		p.X336_splice	ENST00000230565	NM_021572.4	336		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4915.1	.	MUTECT|MUSE	.	CCTACTGTAAA	NONE	.	.	.	.	.	ENSP00000360436	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371383	Transcript	.	.	ENSG00000112796	13717	.	.	HIGH	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ENPP5_HUMAN	ENPP5	HGNC	.	.	UPI0000072511	SNV	ENPP5,splice_acceptor_variant,,ENST00000371383,;ENPP5,splice_acceptor_variant,,ENST00000230565,;ENPP5,downstream_gene_variant,,ENST00000492313,;	.	22	15	SUCCESS
FOXP2	93986	.	GRCh37	7	114269944	114269944	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	30	0	ENST00000350908.4:c.481C>A	p.Gln161Lys	p.Q161K	ENST00000350908		161	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS43635.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCAACAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR25042:SF12,hmmpanther:PTHR25042	.	.	ENSP00000386200	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000408937	Transcript	.	.	ENSG00000128573	13875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.95)	.	FOXP2_HUMAN	FOXP2	HGNC	.	.	UPI000007412B	SNV	FOXP2,missense_variant,p.Gln167Lys,ENST00000452963,;FOXP2,missense_variant,p.Gln161Lys,ENST00000378237,;FOXP2,missense_variant,p.Gln86Lys,ENST00000393500,;FOXP2,missense_variant,p.Gln141Lys,ENST00000393498,;FOXP2,missense_variant,p.Gln69Lys,ENST00000393491,;FOXP2,missense_variant,p.Gln178Lys,ENST00000403559,;FOXP2,missense_variant,p.Gln161Lys,ENST00000360232,;FOXP2,missense_variant,p.Gln69Lys,ENST00000393489,;FOXP2,missense_variant,p.Gln186Lys,ENST00000408937,;FOXP2,missense_variant,p.Gln185Lys,ENST00000390668,;FOXP2,missense_variant,p.Gln161Lys,ENST00000350908,;FOXP2,missense_variant,p.Gln161Lys,ENST00000393494,;FOXP2,intron_variant,,ENST00000393495,;AC020606.1,non_coding_transcript_exon_variant,,ENST00000580664,;FOXP2,downstream_gene_variant,,ENST00000459666,;FOXP2,3_prime_UTR_variant,,ENST00000440349,;FOXP2,3_prime_UTR_variant,,ENST00000441290,;FOXP2,3_prime_UTR_variant,,ENST00000412402,;	930	30	19	SUCCESS
PTPRN2	5799	.	GRCh37	7	157931034	157931034	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	60	0	ENST00000389418.4:c.1084G>A	p.Glu362Lys	p.E362K	ENST00000389418	NM_002847.3	362	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5947.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCTCCAG	NONE	.	.	.	.	.	ENSP00000374069	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000389418	Transcript	.	.	ENSG00000155093	9677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.32)	.	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,missense_variant,p.Glu324Lys,ENST00000409483,;PTPRN2,missense_variant,p.Glu345Lys,ENST00000389416,;PTPRN2,missense_variant,p.Glu385Lys,ENST00000404321,;PTPRN2,missense_variant,p.Glu362Lys,ENST00000389418,;PTPRN2,missense_variant,p.Glu362Lys,ENST00000389413,;	1094	60	54	SUCCESS
EIF3H	8667	.	GRCh37	8	117668129	117668129	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755682334	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	105	305	0	ENST00000521861.1:c.673G>T	p.Ala225Ser	p.A225S	ENST00000521861	NM_003756.2	225	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6319.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCAACAG	NONE	byFrequency	.	HAMAP:MF_03007,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF3	.	.	ENSP00000429931	.	5/8	.	.	.	.	.	.	.	.	rs755682334	5/8	PASS	ENST00000521861	Transcript	.	.	ENSG00000147677	3273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.64)	.	EIF3H_HUMAN	EIF3H	HGNC	Q6IB98_HUMAN	.	UPI00000477E8	SNV	EIF3H,missense_variant,p.Ala193Ser,ENST00000518949,;EIF3H,missense_variant,p.Ala225Ser,ENST00000521861,;EIF3H,missense_variant,p.Ala239Ser,ENST00000276682,;EIF3H,downstream_gene_variant,,ENST00000518995,;EIF3H,downstream_gene_variant,,ENST00000522453,;EIF3H,non_coding_transcript_exon_variant,,ENST00000520289,;EIF3H,downstream_gene_variant,,ENST00000517974,;EIF3H,downstream_gene_variant,,ENST00000519046,;EIF3H,downstream_gene_variant,,ENST00000522800,;EIF3H,downstream_gene_variant,,ENST00000518034,;	697	305	289	SUCCESS
PAPPA	5069	.	GRCh37	9	119109470	119109470	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	48	104	0	ENST00000328252.3:c.3946C>T	p.His1316Tyr	p.H1316Y	ENST00000328252	NM_002581.3	1316	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS6813.1	3946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTCACCCT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000330658	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.03)	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,missense_variant,p.His1316Tyr,ENST00000328252,;PAPPA,missense_variant,p.His354Tyr,ENST00000534838,;	4315	104	121	SUCCESS
MORN5	254956	.	GRCh37	9	124936889	124936889	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762113900	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	69	0	ENST00000373764.3:c.422G>A	p.Arg141His	p.R141H	ENST00000373764	NM_198469.2	141	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6836.1	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGCTTTC	NONE	byFrequency	.	hmmpanther:PTHR23084	.	.	ENSP00000362869	.	4/5	.	.	.	.	.	.	.	.	rs762113900,COSM487005,COSM3903776	4/5	PASS	ENST00000373764	Transcript	.	.	ENSG00000185681	17841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.015)	.	tolerated(0.06)	0,1,1	MORN5_HUMAN	MORN5	HGNC	Q5T7S4_HUMAN	.	UPI00001AFE6F	SNV	MORN5,missense_variant,p.Arg141His,ENST00000373764,;MORN5,missense_variant,p.Arg141His,ENST00000536616,;MORN5,downstream_gene_variant,,ENST00000418632,;MORN5,non_coding_transcript_exon_variant,,ENST00000477017,;MORN5,non_coding_transcript_exon_variant,,ENST00000486801,;	484	69	64	SUCCESS
ACSL4	2182	.	GRCh37	X	108926881	108926881	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs760470947	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	25	0	ENST00000340800.2:c.-166C>T		p.*56*	ENST00000340800	NM_022977.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS14548.1	.	MUTECT|MUSE	.	AAGCCGACAAT	NONE	by1000G	.	.	A:0	.	ENSP00000339787	A:0	4/17	.	.	.	.	.	.	.	.	rs760470947	4/17	PASS	ENST00000340800	Transcript	.	A:0.0003	ENSG00000068366	3571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	ACSL4_HUMAN	ACSL4	HGNC	Q5JWV8_HUMAN,D6RFW9_HUMAN,D6RF95_HUMAN,D6RDA8_HUMAN,D6RD96_HUMAN	.	UPI000012E293	SNV	ACSL4,5_prime_UTR_variant,,ENST00000340800,;ACSL4,5_prime_UTR_variant,,ENST00000502391,;ACSL4,5_prime_UTR_variant,,ENST00000469857,;ACSL4,5_prime_UTR_variant,,ENST00000469796,;ACSL4,intron_variant,,ENST00000348502,;ACSL4,intron_variant,,ENST00000508092,;ACSL4,intron_variant,,ENST00000505855,;ACSL4,intron_variant,,ENST00000504980,;	340	25	8	SUCCESS
ZNF449	203523	.	GRCh37	X	134480992	134480992	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs781785644	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	40	0	ENST00000339249.4:c.-52G>A		p.*18*	ENST00000339249	NM_152695.5			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS14649.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCGGAATC	NONE	by1000G	.	.	A:0	.	ENSP00000339585	A:0.001	2/5	.	.	.	.	.	.	.	.	rs781785644	2/5	PASS	ENST00000339249	Transcript	.	A:0.0003	ENSG00000173275	21039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZN449_HUMAN	ZNF449	HGNC	Q7Z3P1_HUMAN	.	UPI000013F1DE	SNV	ZNF449,5_prime_UTR_variant,,ENST00000370760,;ZNF449,5_prime_UTR_variant,,ENST00000339249,;ZNF449,5_prime_UTR_variant,,ENST00000370761,;ZNF75D,upstream_gene_variant,,ENST00000370766,;ZNF75D,upstream_gene_variant,,ENST00000494295,;	89	40	40	SUCCESS
PCDH11X	27328	.	GRCh37	X	91132344	91132344	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	111	0	ENST00000373094.1:c.1105G>T	p.Val369Phe	p.V369F	ENST00000373094	NM_032968.3	369	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS14461.1	1105	RADIA|MUTECT|VARSCANS	.	CAGTTGTTCTT	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.7)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Val369Phe,ENST00000373088,;PCDH11X,missense_variant,p.Val369Phe,ENST00000361724,;PCDH11X,missense_variant,p.Val369Phe,ENST00000395337,;PCDH11X,missense_variant,p.Val369Phe,ENST00000298274,;PCDH11X,missense_variant,p.Val369Phe,ENST00000504220,;PCDH11X,missense_variant,p.Val369Phe,ENST00000406881,;PCDH11X,missense_variant,p.Val369Phe,ENST00000373094,;PCDH11X,missense_variant,p.Val369Phe,ENST00000373097,;PCDH11X,missense_variant,p.Val369Phe,ENST00000361655,;	1950	111	47	SUCCESS
PRPF18	8559	.	GRCh37	10	13658446	13658446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	107	0	ENST00000378572.3:c.841A>G	p.Ile281Val	p.I281V	ENST00000378572	NM_003675.3	281	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCATCGGT	NONE	.	.	hmmpanther:PTHR13007,hmmpanther:PTHR13007:SF19,Gene3D:1dvkA00,Pfam_domain:PF02840,Superfamily_domains:0036629	.	.	ENSP00000473200	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000601460	Transcript	.	.	ENSG00000239665	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	tolerated(0.16)	.	.	RP11-295P9.3	Clone_based_vega_gene	.	.	UPI0002A476E8	SNV	RP11-295P9.3,missense_variant,p.Ile158Val,ENST00000601460,;PRPF18,missense_variant,p.Ile281Val,ENST00000378572,;PRPF18,downstream_gene_variant,,ENST00000417658,;PRPF18,downstream_gene_variant,,ENST00000320054,;RP11-295P9.3,upstream_gene_variant,,ENST00000595538,;	470	108	86	SUCCESS
MALRD1	340895	.	GRCh37	10	19780461	19780461	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	49	0	ENST00000454679.2:c.3143A>T	p.Glu1048Val	p.E1048V	ENST00000454679		1048	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	.	3182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGAGCTTT	NONE	.	.	hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65	.	.	ENSP00000366477	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000377266	Transcript	.	.	ENSG00000204740	24331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.1)	.	.	MALRD1	HGNC	U5GXS0_HUMAN	.	UPI000191551D	SNV	MALRD1,missense_variant,p.Glu1048Val,ENST00000454679,;MALRD1,missense_variant,p.Glu245Val,ENST00000441070,;MALRD1,missense_variant,p.Glu33Val,ENST00000377265,;MALRD1,missense_variant,p.Glu1061Val,ENST00000377266,;MALRD1,5_prime_UTR_variant,,ENST00000455457,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;RP11-265G8.3,upstream_gene_variant,,ENST00000427935,;HMGN1P20,downstream_gene_variant,,ENST00000411849,;	3182	49	50	SUCCESS
ZNF33A	7581	.	GRCh37	10	38344303	38344306	+	frameshift_variant	Frame_Shift_Del	DEL	GTGT	GTGT	-	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	GTGT	GTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	110	0	ENST00000458705.2:c.1249_1252del	p.Cys417GlyfsTer20	p.C417Gfs*20	ENST00000458705		416	gcGTGT/gc	0	.	.	.	.	.	-	AC/X	protein_coding	YES	CCDS44372.1	1251-1254	INDELOCATOR*|VARSCANI*|PINDEL	.	TAATGCGTGTGGGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF204,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000363747	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374618	Transcript	.	.	ENSG00000189180	13096	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN33A_HUMAN	ZNF33A	HGNC	.	.	UPI0000161788	deletion	ZNF33A,frameshift_variant,p.Cys424GlyfsTer20,ENST00000432900,;ZNF33A,frameshift_variant,p.Cys417GlyfsTer20,ENST00000307441,;ZNF33A,frameshift_variant,p.Cys417GlyfsTer20,ENST00000458705,;ZNF33A,frameshift_variant,p.Cys418GlyfsTer20,ENST00000374618,;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;	1429-1432	110	96	SUCCESS
C11orf65	160140	.	GRCh37	11	108264021	108264021	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	59	170	0	ENST00000393084.1:c.645A>G	p.Arg215=	p.R215=	ENST00000393084	NM_152587.3	215	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS8340.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTCTAAT	NONE	.	.	.	.	.	ENSP00000376799	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000393084	Transcript	.	.	ENSG00000166323	28519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK065_HUMAN	C11orf65	HGNC	.	.	UPI000006DEE6	SNV	C11orf65,synonymous_variant,p.%3D,ENST00000393084,;C11orf65,synonymous_variant,p.%3D,ENST00000524755,;C11orf65,synonymous_variant,p.%3D,ENST00000525729,;C11orf65,synonymous_variant,p.%3D,ENST00000529391,;C11orf65,downstream_gene_variant,,ENST00000533583,;C11orf65,non_coding_transcript_exon_variant,,ENST00000526725,;C11orf65,synonymous_variant,p.%3D,ENST00000527531,;	715	170	148	SUCCESS
E2F8	79733	.	GRCh37	11	19256370	19256370	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	37	125	0	ENST00000250024.4:c.687T>A	p.His229Gln	p.H229Q	ENST00000250024	NM_024680.3	229	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS7849.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATATGATC	NONE	.	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF40	.	.	ENSP00000434199	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000527884	Transcript	.	.	ENSG00000129173	24727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.6)	.	E2F8_HUMAN	E2F8	HGNC	E9PMT9_HUMAN	.	UPI00001F9E94	SNV	E2F8,missense_variant,p.His229Gln,ENST00000527884,;E2F8,missense_variant,p.His229Gln,ENST00000250024,;E2F8,downstream_gene_variant,,ENST00000532666,;RP11-428C19.4,intron_variant,,ENST00000527978,;	920	125	104	SUCCESS
OR51E2	81285	.	GRCh37	11	4703440	4703440	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs780052049	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	89	0	ENST00000396950.3:c.502T>G	p.Cys168Gly	p.C168G	ENST00000396950	NM_030774.3	168	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS7751.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAGAAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF99,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000380153	.	2/2	.	.	.	.	.	.	.	.	rs780052049	2/2	PASS	ENST00000396950	Transcript	.	.	ENSG00000167332	15195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O51E2_HUMAN	OR51E2	HGNC	E9PPJ8_HUMAN	.	UPI000003B49B	SNV	OR51E2,missense_variant,p.Cys168Gly,ENST00000396950,;OR51E2,downstream_gene_variant,,ENST00000532598,;	742	89	82	SUCCESS
HRASLS2	0	.	GRCh37	11	63325963	63325963	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	62	131	0	ENST00000255695.1:c.288A>C	p.Ala96=	p.A96=	ENST00000255695	NM_017878.1	96	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8046.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTGCCCG	NONE	.	.	Pfam_domain:PF04970,hmmpanther:PTHR13943,hmmpanther:PTHR13943:SF33	.	.	ENSP00000255695	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000255695	Transcript	.	.	ENSG00000133328	17824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRSL2_HUMAN	HRASLS2	HGNC	.	.	UPI000012CBE3	SNV	HRASLS2,synonymous_variant,p.%3D,ENST00000255695,;	347	131	116	SUCCESS
FGF3	2248	.	GRCh37	11	69625279	69625279	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	80	179	0	ENST00000334134.2:c.514A>G	p.Thr172Ala	p.T172A	ENST00000334134	NM_005247.2	172	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8195.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTGCGGC	NONE	.	.	hmmpanther:PTHR11486:SF26,hmmpanther:PTHR11486,Pfam_domain:PF00167,Gene3D:2.80.10.50,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00262	.	.	ENSP00000334122	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334134	Transcript	.	.	ENSG00000186895	3681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.1)	.	FGF3_HUMAN	FGF3	HGNC	.	.	UPI0000040661	SNV	FGF3,missense_variant,p.Thr172Ala,ENST00000334134,;	605	179	185	SUCCESS
LRRC32	2615	.	GRCh37	11	76376969	76376969	+	synonymous_variant	Silent	SNP	G	G	A	rs533407564	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	59	0	ENST00000260061.5:c.30C>T	p.Ala10=	p.A10=	ENST00000260061	NM_001128922.1	10	gcC/gcT	0	.	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS8245.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGGCCAG	NONE	by1000G	.	hmmpanther:PTHR24365:SF237,hmmpanther:PTHR24365,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	A:0	.	ENSP00000384126	A:0	2/3	.	.	.	.	.	.	.	.	rs533407564	2/3	PASS	ENST00000407242	Transcript	.	A:0.0002	ENSG00000137507	4161	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LRC32_HUMAN	LRRC32	HGNC	C9JYU3_HUMAN	.	UPI000012B0DF	SNV	LRRC32,synonymous_variant,p.%3D,ENST00000260061,;LRRC32,synonymous_variant,p.%3D,ENST00000407242,;LRRC32,synonymous_variant,p.%3D,ENST00000421973,;LRRC32,synonymous_variant,p.%3D,ENST00000404995,;AP001189.4,downstream_gene_variant,,ENST00000447519,;LRRC32,non_coding_transcript_exon_variant,,ENST00000464145,;	273	59	54	SUCCESS
TENM4	26011	.	GRCh37	11	78419516	78419516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	101	0	ENST00000278550.7:c.4099A>G	p.Thr1367Ala	p.T1367A	ENST00000278550	NM_001098816.2	1367	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS44688.1	4099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTGCCAT	NONE	.	.	Superfamily_domains:SSF101898,Gene3D:2.120.10.30,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	deleterious(0)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Thr1367Ala,ENST00000278550,;	4562	101	82	SUCCESS
C11orf82	0	.	GRCh37	11	82643852	82643852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	59	0	ENST00000329143.3:c.569G>A	p.Ser190Asn	p.S190N	ENST00000329143		190	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS8263.1	1472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAGCAAAG	NONE	.	.	.	.	.	ENSP00000435421	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000533655	Transcript	.	.	ENSG00000165490	26351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	tolerated(0.27)	.	NOXIN_HUMAN	C11orf82	HGNC	E9PQP9_HUMAN,E9PN94_HUMAN,E9PLJ5_HUMAN,B4DMA1_HUMAN	.	UPI00001AF966	SNV	C11orf82,missense_variant,p.Ser491Asn,ENST00000430323,;C11orf82,missense_variant,p.Ser190Asn,ENST00000329143,;C11orf82,missense_variant,p.Ser491Asn,ENST00000533655,;C11orf82,3_prime_UTR_variant,,ENST00000528759,;C11orf82,intron_variant,,ENST00000525361,;PRCP,intron_variant,,ENST00000534396,;C11orf82,downstream_gene_variant,,ENST00000528262,;C11orf82,downstream_gene_variant,,ENST00000524921,;C11orf82,downstream_gene_variant,,ENST00000532277,;C11orf82,downstream_gene_variant,,ENST00000532764,;C11orf82,downstream_gene_variant,,ENST00000525388,;C11orf82,downstream_gene_variant,,ENST00000532589,;C11orf82,downstream_gene_variant,,ENST00000533750,;C11orf82,downstream_gene_variant,,ENST00000528189,;	1684	59	55	SUCCESS
FAT3	120114	.	GRCh37	11	92577113	92577113	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	49	117	0	ENST00000298047.6:c.10580G>A	p.Gly3527Asp	p.G3527D	ENST00000298047		3527	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	.	10580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGCAAAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Gly3527Asp,ENST00000298047,;FAT3,missense_variant,p.Gly3527Asp,ENST00000409404,;FAT3,missense_variant,p.Gly3377Asp,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000533797,;	10597	117	101	SUCCESS
BTBD11	121551	.	GRCh37	12	108029088	108029088	+	synonymous_variant	Silent	SNP	C	C	T	rs758782703	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	65	0	ENST00000280758.5:c.2658C>T	p.Cys886=	p.C886=	ENST00000280758	NM_001018072.1	886	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS31893.1	2658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCGTCAT	NONE	byFrequency	.	hmmpanther:PTHR24413:SF76,hmmpanther:PTHR24413	.	.	ENSP00000280758	.	12/17	.	.	.	.	.	.	.	.	rs758782703	12/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,synonymous_variant,p.%3D,ENST00000490090,;BTBD11,synonymous_variant,p.%3D,ENST00000280758,;BTBD11,synonymous_variant,p.%3D,ENST00000420571,;BTBD11,synonymous_variant,p.%3D,ENST00000357167,;BTBD11,5_prime_UTR_variant,,ENST00000494235,;	3186	65	53	SUCCESS
LRRC43	254050	.	GRCh37	12	122677397	122677397	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774685084	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	77	242	0	ENST00000339777.4:c.1195G>A	p.Glu399Lys	p.E399K	ENST00000339777	NM_152759.4	399	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45001.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGAAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF224	.	.	ENSP00000344233	.	7/12	.	.	.	.	.	.	.	.	rs774685084	7/12	PASS	ENST00000339777	Transcript	.	.	ENSG00000158113	28562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	tolerated(0.3)	.	LRC43_HUMAN	LRRC43	HGNC	F5H0N3_HUMAN	.	UPI00015347BE	SNV	LRRC43,missense_variant,p.Glu399Lys,ENST00000339777,;LRRC43,missense_variant,p.Glu214Lys,ENST00000425921,;LRRC43,downstream_gene_variant,,ENST00000537729,;LRRC43,intron_variant,,ENST00000541498,;LRRC43,downstream_gene_variant,,ENST00000537113,;	1223	242	174	SUCCESS
KCNA5	3741	.	GRCh37	12	5154614	5154614	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	103	0	ENST00000252321.3:c.1301T>A	p.Leu434Gln	p.L434Q	ENST00000252321	NM_002234.3	434	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8536.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGGGGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	COSM940459	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Leu434Gln,ENST00000252321,;	1530	103	86	SUCCESS
SLC4A8	9498	.	GRCh37	12	51868193	51868193	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144293610	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	85	0	ENST00000453097.2:c.1972G>A	p.Val658Met	p.V658M	ENST00000453097	NM_001039960.2	658	Gtg/Atg	0	A:0.0002	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS44890.1	1972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCGTGACA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834	A:0.001	A:0.0002	ENSP00000405812	A:0	15/25	.	.	.	.	.	.	.	.	rs144293610	15/25	PASS	ENST00000453097	Transcript	.	A:0.0002	ENSG00000050438	11034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.267)	A:0	tolerated(0.06)	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,missense_variant,p.Val605Met,ENST00000394856,;SLC4A8,missense_variant,p.Val658Met,ENST00000453097,;SLC4A8,missense_variant,p.Val605Met,ENST00000535225,;SLC4A8,missense_variant,p.Val605Met,ENST00000514353,;SLC4A8,missense_variant,p.Val685Met,ENST00000358657,;SLC4A8,downstream_gene_variant,,ENST00000546663,;SLC4A8,downstream_gene_variant,,ENST00000550211,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;	2189	85	64	SUCCESS
TNFRSF1A	7132	.	GRCh37	12	6451116	6451116	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	39	0	ENST00000162749.2:c.-136C>A		p.*46*	ENST00000162749	NM_001065.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8542.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCGGGCAT	NONE	.	.	.	.	.	ENSP00000162749	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000162749	Transcript	.	.	ENSG00000067182	11916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR1A_HUMAN	TNFRSF1A	HGNC	J9PH39_HUMAN,F5H4T5_HUMAN	.	UPI000002CE11	SNV	TNFRSF1A,5_prime_UTR_variant,,ENST00000539372,;TNFRSF1A,5_prime_UTR_variant,,ENST00000162749,;TNFRSF1A,5_prime_UTR_variant,,ENST00000540022,;TNFRSF1A,5_prime_UTR_variant,,ENST00000536194,;TNFRSF1A,5_prime_UTR_variant,,ENST00000440083,;SCNN1A,downstream_gene_variant,,ENST00000228916,;SCNN1A,downstream_gene_variant,,ENST00000358945,;SCNN1A,downstream_gene_variant,,ENST00000360168,;TNFRSF1A,upstream_gene_variant,,ENST00000366159,;SCNN1A,downstream_gene_variant,,ENST00000540037,;RN7SL391P,upstream_gene_variant,,ENST00000582559,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000535958,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000538363,;TNFRSF1A,5_prime_UTR_variant,,ENST00000543048,;TNFRSF1A,5_prime_UTR_variant,,ENST00000543995,;TNFRSF1A,5_prime_UTR_variant,,ENST00000534885,;	165	39	25	SUCCESS
PHC1	1911	.	GRCh37	12	9085395	9085395	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	91	0	ENST00000543824.1:c.1342C>A	p.Pro448Thr	p.P448T	ENST00000543824		448	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS8597.1	1342	RADIA|VARSCANS	.	CTGCCCCTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12247:SF21,hmmpanther:PTHR12247	.	.	ENSP00000440674	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.27)	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,missense_variant,p.Pro448Thr,ENST00000543824,;PHC1,missense_variant,p.Pro227Thr,ENST00000536844,;PHC1,missense_variant,p.Pro403Thr,ENST00000433083,;PHC1,missense_variant,p.Pro84Thr,ENST00000537610,;PHC1,missense_variant,p.Pro448Thr,ENST00000544916,;PHC1,intron_variant,,ENST00000542346,;PHC1,downstream_gene_variant,,ENST00000539063,;PHC1,non_coding_transcript_exon_variant,,ENST00000433847,;PHC1,non_coding_transcript_exon_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,upstream_gene_variant,,ENST00000535510,;PHC1,upstream_gene_variant,,ENST00000540809,;	1674	91	72	SUCCESS
CCER1	196477	.	GRCh37	12	91347318	91347318	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	95	0	ENST00000358859.2:c.1202C>T	p.Ala401Val	p.A401V	ENST00000358859	NM_152638.2	401	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9036.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGCCATG	NONE	.	.	.	.	.	ENSP00000351727	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358859	Transcript	.	.	ENSG00000197651	28373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	CCER1_HUMAN	CCER1	HGNC	.	.	UPI000006EE70	SNV	CCER1,missense_variant,p.Ala401Val,ENST00000358859,;LINC00615,downstream_gene_variant,,ENST00000546725,;CCER1,intron_variant,,ENST00000548187,;CCER1,missense_variant,p.Ala53Val,ENST00000549707,;	1636	95	80	SUCCESS
PCCA	5095	.	GRCh37	13	100764310	100764310	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	62	220	0	ENST00000376285.1:c.295A>G	p.Ser99Gly	p.S99G	ENST00000376285	NM_000282.3	99	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS9496.2	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTAGTTCT	NONE	.	.	PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866,Gene3D:3.40.50.20,Pfam_domain:PF00289,Superfamily_domains:SSF52440	.	.	ENSP00000365462	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000376285	Transcript	.	.	ENSG00000175198	8653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.18)	.	PCCA_HUMAN	PCCA	HGNC	.	.	UPI0000070089	SNV	PCCA,missense_variant,p.Ser73Gly,ENST00000376286,;PCCA,missense_variant,p.Ser99Gly,ENST00000376279,;PCCA,missense_variant,p.Ser99Gly,ENST00000376285,;	333	221	162	SUCCESS
HMGB1	3146	.	GRCh37	13	31035627	31035627	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	65	166	0	ENST00000339872.4:c.515A>C	p.Lys172Thr	p.K172T	ENST00000339872		172	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS9335.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTTTTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF157	.	.	ENSP00000384678	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000405805	Transcript	.	.	ENSG00000189403	4983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	HMGB1_HUMAN	HMGB1	HGNC	Q9NYD7_HUMAN,Q5T7C0_HUMAN	.	UPI00000015ED	SNV	HMGB1,missense_variant,p.Lys172Thr,ENST00000405805,;HMGB1,missense_variant,p.Lys172Thr,ENST00000339872,;HMGB1,missense_variant,p.Lys172Thr,ENST00000399494,;HMGB1,missense_variant,p.Lys172Thr,ENST00000341423,;HMGB1,3_prime_UTR_variant,,ENST00000399489,;HMGB1,downstream_gene_variant,,ENST00000398908,;HMGB1,downstream_gene_variant,,ENST00000326004,;HMGB1,downstream_gene_variant,,ENST00000490788,;HMGB1,downstream_gene_variant,,ENST00000468384,;	1456	166	135	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049542	36049542	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs574005569	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	66	0	ENST00000379919.4:c.734G>A	p.Gly245Asp	p.G245D	ENST00000379919	NM_005584.4	245	gGc/gAc	0	.	T:0	.	T:0	.	T	G/D	protein_coding	YES	CCDS9353.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCCCCC	NONE	by1000G	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	T:0	.	ENSP00000369251	T:0	1/1	.	.	.	.	.	.	.	.	rs574005569	1/1	PASS	ENST00000379919	Transcript	.	T:0.0002	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	T:0.001	deleterious(0.01)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Gly245Asp,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1291	66	56	SUCCESS
FREM2	341640	.	GRCh37	13	39261376	39261376	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	123	0	ENST00000280481.7:c.-106A>T		p.*36*	ENST00000280481	NM_207361.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31960.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCAACGCG	NONE	.	.	.	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,5_prime_UTR_variant,,ENST00000280481,;	111	123	102	SUCCESS
CDC42BPB	9578	.	GRCh37	14	103410434	103410434	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	97	0	ENST00000361246.2:c.4202G>A	p.Gly1401Glu	p.G1401E	ENST00000361246	NM_006035.3	1401	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9978.1	4202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCCCCTGG	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30,Pfam_domain:PF00780,SMART_domains:SM00036	.	.	ENSP00000355237	.	30/37	.	.	.	.	.	.	.	.	.	30/37	PASS	ENST00000361246	Transcript	.	.	ENSG00000198752	1738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MRCKB_HUMAN	CDC42BPB	HGNC	.	.	UPI000013D27E	SNV	CDC42BPB,missense_variant,p.Gly649Glu,ENST00000559043,;CDC42BPB,missense_variant,p.Gly1401Glu,ENST00000361246,;CDC42BPB,missense_variant,p.Gly184Glu,ENST00000558867,;CDC42BPB,non_coding_transcript_exon_variant,,ENST00000559245,;CDC42BPB,upstream_gene_variant,,ENST00000559790,;CDC42BPB,upstream_gene_variant,,ENST00000560492,;	4491	97	73	SUCCESS
PRKD1	5587	.	GRCh37	14	30047494	30047494	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	59	0	ENST00000331968.5:c.2507A>T	p.His836Leu	p.H836L	ENST00000331968	NM_002742.2	836	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS9637.1	2507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGTGGCTC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000552,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR22968,PROSITE_profiles:PS50011	.	.	ENSP00000333568	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000331968	Transcript	.	.	ENSG00000184304	9407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KPCD1_HUMAN	PRKD1	HGNC	Q1KKQ2_HUMAN	.	UPI0000456761	SNV	PRKD1,missense_variant,p.His844Leu,ENST00000415220,;PRKD1,missense_variant,p.His836Leu,ENST00000331968,;	2737	59	50	SUCCESS
HERC2P3	283755	.	GRCh37	15	20588508	20588508	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	65	0	ENST00000428453.1:n.4243G>T		p.*1415*	ENST00000428453				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAACCTGAG	NONE	.	.	.	.	.	.	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,intron_variant,,ENST00000426501,;HERC2P3,downstream_gene_variant,,ENST00000437318,;	4243	65	45	SUCCESS
HERC2P3	283755	.	GRCh37	15	20588509	20588509	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	66	0	ENST00000428453.1:n.4242G>T		p.*1414*	ENST00000428453				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCTGAGC	NONE	.	.	.	.	.	.	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,intron_variant,,ENST00000426501,;HERC2P3,downstream_gene_variant,,ENST00000437318,;	4242	66	47	SUCCESS
TRPM1	4308	.	GRCh37	15	31334364	31334364	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	128	1	ENST00000397795.2:c.1811C>T	p.Ala604Val	p.A604V	ENST00000397795	NM_002420.5	604	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS58347.1	1928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGGCAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	.	.	ENSP00000437849	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.275)	.	deleterious(0.01)	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,missense_variant,p.Ala604Val,ENST00000558445,;TRPM1,missense_variant,p.Ala643Val,ENST00000542188,;TRPM1,missense_variant,p.Ala528Val,ENST00000558768,;TRPM1,missense_variant,p.Ala626Val,ENST00000256552,;TRPM1,missense_variant,p.Ala604Val,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	2242	129	99	SUCCESS
MGA	23269	.	GRCh37	15	42034793	42034793	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	36	70	0	ENST00000219905.7:c.4635A>G	p.Lys1545=	p.K1545=	ENST00000219905	NM_001164273.1	1545	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS55959.1	4635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAAAGTTGG	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000564190,;MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,intron_variant,,ENST00000545763,;MGA,intron_variant,,ENST00000566586,;	4816	70	65	SUCCESS
MAP1A	4130	.	GRCh37	15	43821446	43821446	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	43	114	0	ENST00000300231.5:c.7775T>A	p.Val2592Glu	p.V2592E	ENST00000300231		2592	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS42031.1	7775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTAGAGA	NONE	.	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	.	.	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,missense_variant,p.Val2592Glu,ENST00000300231,;MAP1A,missense_variant,p.Val2830Glu,ENST00000382031,;MAP1A,missense_variant,p.Val2592Glu,ENST00000399453,;PPIP5K1,downstream_gene_variant,,ENST00000396923,;PPIP5K1,downstream_gene_variant,,ENST00000360301,;PPIP5K1,downstream_gene_variant,,ENST00000381885,;PPIP5K1,downstream_gene_variant,,ENST00000381879,;PPIP5K1,downstream_gene_variant,,ENST00000420765,;PPIP5K1,downstream_gene_variant,,ENST00000348806,;PPIP5K1,downstream_gene_variant,,ENST00000360135,;PPIP5K1,downstream_gene_variant,,ENST00000334933,;	8225	114	93	SUCCESS
FRMD5	84978	.	GRCh37	15	44487159	44487159	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762923310	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	36	0	ENST00000417257.1:c.94A>G	p.Thr32Ala	p.T32A	ENST00000417257	NM_032892.3	32	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10107.2	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTGCAGG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5,Pfam_domain:PF09379,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661	.	.	ENSP00000403067	.	1/14	.	.	.	.	.	.	.	.	rs762923310	1/14	PASS	ENST00000417257	Transcript	.	.	ENSG00000171877	28214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.56)	.	FRMD5_HUMAN	FRMD5	HGNC	A8K1U8_HUMAN	.	UPI00001A9475	SNV	FRMD5,missense_variant,p.Thr32Ala,ENST00000417257,;FRMD5,missense_variant,p.Thr32Ala,ENST00000402883,;FRMD5,upstream_gene_variant,,ENST00000484674,;FRMD5,missense_variant,p.Thr32Ala,ENST00000451277,;FRMD5,missense_variant,p.Thr32Ala,ENST00000421674,;FRMD5,missense_variant,p.Thr28Ala,ENST00000458630,;	271	36	37	SUCCESS
SEMA6D	80031	.	GRCh37	15	48056061	48056061	+	synonymous_variant	Silent	SNP	C	C	A	rs374731818	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	146	0	ENST00000316364.5:c.762C>A	p.Arg254=	p.R254=	ENST00000316364	NM_153618.1	254	cgC/cgA	0	T:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS32225.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCGTGGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	.	T:0	ENSP00000324857	.	10/19	.	.	.	.	.	.	.	.	rs374731818	10/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,synonymous_variant,p.%3D,ENST00000389432,;SEMA6D,synonymous_variant,p.%3D,ENST00000358066,;SEMA6D,synonymous_variant,p.%3D,ENST00000389428,;SEMA6D,synonymous_variant,p.%3D,ENST00000389425,;SEMA6D,synonymous_variant,p.%3D,ENST00000355997,;SEMA6D,synonymous_variant,p.%3D,ENST00000389433,;SEMA6D,synonymous_variant,p.%3D,ENST00000558014,;SEMA6D,synonymous_variant,p.%3D,ENST00000537942,;SEMA6D,synonymous_variant,p.%3D,ENST00000354744,;SEMA6D,synonymous_variant,p.%3D,ENST00000536845,;SEMA6D,synonymous_variant,p.%3D,ENST00000558816,;SEMA6D,synonymous_variant,p.%3D,ENST00000316364,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,downstream_gene_variant,,ENST00000561106,;SEMA6D,upstream_gene_variant,,ENST00000558431,;	1201	146	116	SUCCESS
FBN1	2200	.	GRCh37	15	48704920	48704920	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	115	0	ENST00000316623.5:c.8072G>A	p.Gly2691Asp	p.G2691D	ENST00000316623	NM_000138.4	2691	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32232.1	8072	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGCCCATT	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PIRSF_domain:PIRSF036312	.	.	ENSP00000325527	.	65/66	.	.	.	.	.	.	.	.	COSM3501808	65/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.946)	.	.	1	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Gly2691Asp,ENST00000316623,;FBN1,non_coding_transcript_exon_variant,,ENST00000561429,;FBN1,3_prime_UTR_variant,,ENST00000559133,;	8528	115	80	SUCCESS
USP50	373509	.	GRCh37	15	50838872	50838872	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	45	0	ENST00000532404.1:c.-150G>T		p.*50*	ENST00000532404	NM_203494.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53944.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACCTGTA	NONE	.	.	.	.	.	ENSP00000434676	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000532404	Transcript	.	.	ENSG00000170236	20079	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	USP50	HGNC	E9PP86_HUMAN	.	UPI0001CB7F8F	SNV	USP50,5_prime_UTR_variant,,ENST00000532404,;USP50,non_coding_transcript_exon_variant,,ENST00000530218,;USP50,upstream_gene_variant,,ENST00000559105,;	25	45	28	SUCCESS
MYO5C	55930	.	GRCh37	15	52497232	52497232	+	synonymous_variant	Silent	SNP	G	G	A	rs1189744533	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	73	0	ENST00000261839.7:c.4650C>T	p.Ser1550=	p.S1550=	ENST00000261839	NM_018728.3	1550	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42036.1	4650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGGAGGT	NONE	.	.	PROSITE_profiles:PS51126,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140	.	.	ENSP00000261839	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000261839	Transcript	.	.	ENSG00000128833	7604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO5C_HUMAN	MYO5C	HGNC	Q14783_HUMAN,H0YM93_HUMAN	.	UPI000013D20E	SNV	MYO5C,synonymous_variant,p.%3D,ENST00000261839,;RP11-430B1.2,non_coding_transcript_exon_variant,,ENST00000559779,;RP11-430B1.2,non_coding_transcript_exon_variant,,ENST00000560518,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,downstream_gene_variant,,ENST00000559696,;	4812	73	89	SUCCESS
STRA6	64220	.	GRCh37	15	74494511	74494511	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777248211	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	71	0	ENST00000323940.5:c.98A>G	p.Glu33Gly	p.E33G	ENST00000323940	NM_001142618.1	33	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS55973.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTCCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21444:SF5,hmmpanther:PTHR21444	.	.	ENSP00000456609	.	2/19	.	.	.	.	.	.	.	.	rs777248211	2/19	PASS	ENST00000563965	Transcript	1	.	ENSG00000137868	30650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.15)	.	STRA6_HUMAN	STRA6	HGNC	I3L0M6_HUMAN,B7Z5G7_HUMAN	.	UPI00015F460B	SNV	STRA6,missense_variant,p.Glu48Gly,ENST00000574278,;STRA6,missense_variant,p.Glu33Gly,ENST00000323940,;STRA6,missense_variant,p.Glu33Gly,ENST00000432245,;STRA6,missense_variant,p.Glu33Gly,ENST00000571341,;STRA6,missense_variant,p.Glu33Gly,ENST00000449139,;STRA6,missense_variant,p.Glu70Gly,ENST00000535552,;STRA6,missense_variant,p.Glu72Gly,ENST00000563965,;STRA6,missense_variant,p.Glu33Gly,ENST00000416286,;STRA6,missense_variant,p.Glu33Gly,ENST00000423167,;STRA6,missense_variant,p.Glu33Gly,ENST00000395105,;RP11-60L3.1,upstream_gene_variant,,ENST00000560148,;RP11-60L3.1,upstream_gene_variant,,ENST00000561332,;RP11-60L3.1,upstream_gene_variant,,ENST00000558645,;STRA6,non_coding_transcript_exon_variant,,ENST00000574570,;STRA6,non_coding_transcript_exon_variant,,ENST00000574439,;STRA6,non_coding_transcript_exon_variant,,ENST00000573456,;STRA6,missense_variant,p.Glu33Gly,ENST00000569936,;STRA6,missense_variant,p.Glu33Gly,ENST00000573391,;STRA6,non_coding_transcript_exon_variant,,ENST00000573214,;STRA6,non_coding_transcript_exon_variant,,ENST00000573724,;	554	71	41	SUCCESS
IREB2	3658	.	GRCh37	15	78768702	78768703	+	splice_donor_variant	Splice_Site	INS	-	-	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	30	103	0	ENST00000258886.8:c.1195+2dup		p.X399_splice	ENST00000258886	NM_004136.2	399		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10302.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TACAGGTAAGA	NONE	.	.	.	.	.	ENSP00000258886	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258886	Transcript	.	.	ENSG00000136381	6115	1	.	HIGH	9/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IREB2_HUMAN	IREB2	HGNC	H0YLE0_HUMAN	.	UPI00001C1F8E	insertion	IREB2,splice_donor_variant,,ENST00000258886,;IREB2,3_prime_UTR_variant,,ENST00000560440,;RP11-650L12.1,downstream_gene_variant,,ENST00000560094,;IREB2,splice_donor_variant,,ENST00000558570,;IREB2,downstream_gene_variant,,ENST00000558525,;	.	103	111	SUCCESS
XYLT1	64131	.	GRCh37	16	17228387	17228387	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748655641	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	17	59	0	ENST00000261381.6:c.1970G>T	p.Arg657Leu	p.R657L	ENST00000261381	NM_022166.3	657	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS10569.1	1970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCGGGCA	NONE	byFrequency	.	Pfam_domain:PF12529,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91	.	.	ENSP00000261381	.	9/12	.	.	.	.	.	.	.	.	rs748655641	9/12	PASS	ENST00000261381	Transcript	.	.	ENSG00000103489	15516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	XYLT1_HUMAN	XYLT1	HGNC	.	.	UPI000000DCCE	SNV	XYLT1,missense_variant,p.Arg657Leu,ENST00000261381,;CTD-2576D5.4,non_coding_transcript_exon_variant,,ENST00000567344,;	2055	59	22	SUCCESS
MEFV	4210	.	GRCh37	16	3304270	3304270	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	43	71	0	ENST00000219596.1:c.798G>A	p.Lys266=	p.K266=	ENST00000219596	NM_000243.2	266	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS10498.1	798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCTTTTC	NONE	.	.	.	.	.	ENSP00000219596	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,synonymous_variant,p.%3D,ENST00000219596,;MEFV,intron_variant,,ENST00000536379,;MEFV,intron_variant,,ENST00000339854,;MEFV,intron_variant,,ENST00000541159,;MEFV,synonymous_variant,p.%3D,ENST00000538326,;MEFV,synonymous_variant,p.%3D,ENST00000570511,;MEFV,synonymous_variant,p.%3D,ENST00000542898,;MEFV,synonymous_variant,p.%3D,ENST00000537682,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000536980,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;MEFV,intron_variant,,ENST00000539145,;	838	71	49	SUCCESS
AXIN1	8312	.	GRCh37	16	348175	348175	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	26	59	0	ENST00000262320.3:c.1331G>A	p.Trp444Ter	p.W444*	ENST00000262320	NM_003502.3	444	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS10405.1	1331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCAAGCG	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,stop_gained,p.Trp444Ter,ENST00000262320,;AXIN1,stop_gained,p.Trp444Ter,ENST00000354866,;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1703	59	30	SUCCESS
EVPLL	645027	.	GRCh37	17	18284693	18284693	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	87	0	ENST00000399134.4:c.76A>T	p.Ser26Cys	p.S26C	ENST00000399134	NM_001145127.1	26	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45626.1	76	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAGTGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169:SF8,hmmpanther:PTHR23169	.	.	ENSP00000382086	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000399134	Transcript	.	.	ENSG00000214860	35236	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.228)	.	deleterious(0.04)	.	EVPLL_HUMAN	EVPLL	HGNC	.	.	UPI00001C1FE2	SNV	EVPLL,missense_variant,p.Ser26Cys,ENST00000399134,;RP1-37N7.1,non_coding_transcript_exon_variant,,ENST00000579352,;	434	87	54	SUCCESS
C17orf75	64149	.	GRCh37	17	30665304	30665304	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	84	262	0	ENST00000577809.1:c.414A>C	p.Thr138=	p.T138=	ENST00000577809	NM_022344.3	138	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS58537.1	414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACTGTTTC	NONE	.	.	hmmpanther:PTHR14416,Pfam_domain:PF15053	.	.	ENSP00000464275	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000577809	Transcript	.	.	ENSG00000108666	30173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NJMU_HUMAN	C17orf75	HGNC	Q8NI83_HUMAN,K7ERX0_HUMAN,K7EIQ2_HUMAN,K7EII1_HUMAN,J3KRR1_HUMAN	.	UPI00001AE577	SNV	C17orf75,synonymous_variant,p.%3D,ENST00000577809,;C17orf75,synonymous_variant,p.%3D,ENST00000225805,;C17orf75,synonymous_variant,p.%3D,ENST00000583774,;C17orf75,5_prime_UTR_variant,,ENST00000580558,;C17orf75,5_prime_UTR_variant,,ENST00000583334,;C17orf75,5_prime_UTR_variant,,ENST00000581747,;C17orf75,upstream_gene_variant,,ENST00000583104,;C17orf75,upstream_gene_variant,,ENST00000582961,;RP11-227G15.3,intron_variant,,ENST00000578389,;RP11-227G15.3,intron_variant,,ENST00000581915,;C17orf75,3_prime_UTR_variant,,ENST00000583221,;C17orf75,non_coding_transcript_exon_variant,,ENST00000582073,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580485,;C17orf75,upstream_gene_variant,,ENST00000578215,;C17orf75,downstream_gene_variant,,ENST00000580294,;	464	262	208	SUCCESS
KRT36	8689	.	GRCh37	17	39644652	39644652	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1366424181	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	50	0	ENST00000328119.6:c.543-1G>A		p.X181_splice	ENST00000328119	NM_003771.4	181		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11395.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACCTGCAC	NONE	.	.	.	.	.	ENSP00000329165	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328119	Transcript	.	.	ENSG00000126337	6454	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT36_HUMAN	KRT36	HGNC	.	.	UPI000012DAFA	SNV	KRT36,splice_acceptor_variant,,ENST00000393986,;KRT36,splice_acceptor_variant,,ENST00000328119,;	.	50	49	SUCCESS
NSF	4905	.	GRCh37	17	44806296	44806296	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	109	1	ENST00000398238.4:c.1904C>T	p.Pro635Leu	p.P635L	ENST00000398238	NM_006178.3	635	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS42354.1	1904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCTCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23078,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540,Prints_domain:PR00830	.	.	ENSP00000381293	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000398238	Transcript	.	.	ENSG00000073969	8016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NSF_HUMAN	NSF	HGNC	Q96D47_HUMAN,I3L338_HUMAN,I3L2G1_HUMAN,I3L0N3_HUMAN,I3L0L3_HUMAN,B4DH19_HUMAN,B4DFA2_HUMAN	.	UPI000006D238	SNV	NSF,missense_variant,p.Pro46Leu,ENST00000465370,;NSF,missense_variant,p.Pro63Leu,ENST00000576346,;NSF,missense_variant,p.Pro541Leu,ENST00000225282,;NSF,missense_variant,p.Pro635Leu,ENST00000398238,;NSF,missense_variant,p.Pro630Leu,ENST00000575068,;	2011	110	82	SUCCESS
TLK2	11011	.	GRCh37	17	60558480	60558480	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	64	0	ENST00000326270.9:c.-2-5A>T		p.X1_splice	ENST00000326270	NM_001284333.1	1		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11633.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGCAGA	NONE	.	.	.	.	.	ENSP00000275780	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000346027	Transcript	.	.	ENSG00000146872	11842	.	.	HIGH	1/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLK2_HUMAN	TLK2	HGNC	J3QS73_HUMAN,J3QQN4_HUMAN,J3QLK5_HUMAN,J3KST4_HUMAN	.	UPI00001B6B0F	SNV	TLK2,splice_acceptor_variant,,ENST00000580705,;TLK2,splice_acceptor_variant,,ENST00000343388,;TLK2,splice_acceptor_variant,,ENST00000542523,;TLK2,splice_acceptor_variant,,ENST00000346027,;TLK2,splice_region_variant,,ENST00000582195,;TLK2,splice_region_variant,,ENST00000582809,;TLK2,splice_region_variant,,ENST00000583843,;TLK2,splice_region_variant,,ENST00000579450,;TLK2,splice_region_variant,,ENST00000326270,;TLK2,upstream_gene_variant,,ENST00000581041,;TLK2,splice_region_variant,,ENST00000577616,;TLK2,splice_acceptor_variant,,ENST00000583690,;	.	64	73	SUCCESS
AXIN2	8313	.	GRCh37	17	63534461	63534461	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	97	0	ENST00000307078.5:c.1060A>T	p.Arg354Ter	p.R354*	ENST00000307078	NM_004655.3	354	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11662.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTCTACA	NONE	.	.	hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	.	ENSP00000302625	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,stop_gained,p.Arg354Ter,ENST00000375702,;AXIN2,stop_gained,p.Arg354Ter,ENST00000307078,;CTD-2535L24.2,splice_region_variant,,ENST00000577662,;AXIN2,upstream_gene_variant,,ENST00000578251,;	1374	97	84	SUCCESS
SDK2	54549	.	GRCh37	17	71361525	71361525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	110	0	ENST00000392650.3:c.5177C>T	p.Ala1726Val	p.A1726V	ENST00000392650	NM_001144952.1	1726	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45769.1	5177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGAGCGCTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376421	.	38/45	.	.	.	.	.	.	.	.	.	38/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.08)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Ala883Val,ENST00000424778,;SDK2,missense_variant,p.Ala1707Val,ENST00000388726,;SDK2,missense_variant,p.Ala1726Val,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	5178	110	64	SUCCESS
DNAH17	8632	.	GRCh37	17	76497424	76497424	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	42	0	ENST00000389840.5:c.5283G>T		p.X1761_splice	ENST00000389840		1761	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	.	5283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCACCTG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	.	.	ENSP00000374490	.	35/81	.	.	.	.	.	.	.	.	.	35/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;DNAH17-AS1,3_prime_UTR_variant,,ENST00000598378,;RP11-559N14.5,downstream_gene_variant,,ENST00000591373,;DNAH17,downstream_gene_variant,,ENST00000587177,;	5408	42	36	SUCCESS
DSC1	1823	.	GRCh37	18	28720171	28720171	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	151	0	ENST00000257198.5:c.1354A>G	p.Thr452Ala	p.T452A	ENST00000257198	NM_024421.2	452	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11894.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTAGGAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF8,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000257198	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000257198	Transcript	.	.	ENSG00000134765	3035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.7)	.	DSC1_HUMAN	DSC1	HGNC	.	.	UPI000006DF10	SNV	DSC1,missense_variant,p.Thr452Ala,ENST00000257198,;DSC1,missense_variant,p.Thr452Ala,ENST00000257197,;RP11-408H20.2,intron_variant,,ENST00000581836,;	1616	151	100	SUCCESS
C19orf38	255809	.	GRCh37	19	10959125	10959125	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	18	0	ENST00000397820.4:c.-60G>A		p.*20*	ENST00000397820	NM_001136482.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45970.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTGGCGGG	NONE	.	.	.	.	.	ENSP00000380920	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000397820	Transcript	.	.	ENSG00000214212	34073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIDE1_HUMAN	C19orf38	HGNC	.	.	UPI0000160991	SNV	C19orf38,5_prime_UTR_variant,,ENST00000397820,;C19orf38,5_prime_UTR_variant,,ENST00000592854,;C19orf38,upstream_gene_variant,,ENST00000587494,;	48	18	27	SUCCESS
IL27RA	9466	.	GRCh37	19	14157256	14157256	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	31	83	0	ENST00000263379.2:c.967C>T	p.Pro323Ser	p.P323S	ENST00000263379	NM_004843.3	323	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12303.1	967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCCCGT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF6,PROSITE_profiles:PS50853,Low_complexity_(Seg):seg	.	.	ENSP00000263379	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000263379	Transcript	.	.	ENSG00000104998	17290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	I27RA_HUMAN	IL27RA	HGNC	.	.	UPI0000039E1F	SNV	IL27RA,missense_variant,p.Pro323Ser,ENST00000263379,;	1092	83	56	SUCCESS
EMR2	0	.	GRCh37	19	14863218	14863218	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	56	158	0	ENST00000315576.3:c.1711C>T	p.Leu571=	p.L571=	ENST00000315576	NM_013447.3	571	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32935.1	1711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGTGAGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF179,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	.	ENSP00000319883	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,synonymous_variant,p.%3D,ENST00000594076,;EMR2,synonymous_variant,p.%3D,ENST00000594294,;EMR2,synonymous_variant,p.%3D,ENST00000601345,;EMR2,synonymous_variant,p.%3D,ENST00000346057,;EMR2,synonymous_variant,p.%3D,ENST00000595839,;EMR2,synonymous_variant,p.%3D,ENST00000353005,;EMR2,synonymous_variant,p.%3D,ENST00000353876,;EMR2,synonymous_variant,p.%3D,ENST00000315576,;EMR2,synonymous_variant,p.%3D,ENST00000392965,;EMR2,synonymous_variant,p.%3D,ENST00000392967,;EMR2,synonymous_variant,p.%3D,ENST00000596991,;EMR2,3_prime_UTR_variant,,ENST00000392964,;EMR2,3_prime_UTR_variant,,ENST00000392962,;EMR2,3_prime_UTR_variant,,ENST00000595208,;EMR2,intron_variant,,ENST00000360222,;	2163	158	138	SUCCESS
OR7C1	26664	.	GRCh37	19	14910799	14910799	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	86	227	0	ENST00000248073.2:c.150C>T	p.Cys50=	p.C50=	ENST00000248073	NM_198944.1	50	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS12317.1	150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGCATAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF24,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000248073	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248073	Transcript	.	.	ENSG00000127530	8373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR7C1_HUMAN	OR7C1	HGNC	.	.	UPI0000130B4C	SNV	OR7C1,synonymous_variant,p.%3D,ENST00000248073,;OR7A5,intron_variant,,ENST00000601611,;OR7A5,downstream_gene_variant,,ENST00000599549,;OR7A5,downstream_gene_variant,,ENST00000595922,;	225	227	185	SUCCESS
ATP8B3	148229	.	GRCh37	19	1784853	1784853	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755328810	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	42	98	0	ENST00000310127.6:c.3625G>C	p.Val1209Leu	p.V1209L	ENST00000310127	NM_138813.3	1209	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS45901.1	3625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACTCGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092	.	.	ENSP00000311336	.	28/29	.	.	.	.	.	.	.	.	rs755328810	28/29	PASS	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.35)	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,missense_variant,p.Val1209Leu,ENST00000310127,;ATP8B3,missense_variant,p.Val1219Leu,ENST00000539485,;ATP8B3,missense_variant,p.Val1172Leu,ENST00000525591,;ONECUT3,downstream_gene_variant,,ENST00000382349,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000526847,;	3864	98	88	SUCCESS
ZNF257	113835	.	GRCh37	19	22256300	22256300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	41	72	0	ENST00000594947.1:c.160A>G	p.Thr54Ala	p.T54A	ENST00000594947	NM_033468.2	54	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46030.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCACCTGT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000470209	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000594947	Transcript	.	.	ENSG00000197134	13498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.06)	.	ZN257_HUMAN	ZNF257	HGNC	M0R0N1_HUMAN	.	UPI0000E045CA	SNV	ZNF257,missense_variant,p.Thr54Ala,ENST00000600162,;ZNF257,missense_variant,p.Thr54Ala,ENST00000594363,;ZNF257,missense_variant,p.Thr54Ala,ENST00000594947,;ZNF257,intron_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000597796,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;	304	72	82	SUCCESS
PSG6	5675	.	GRCh37	19	43414998	43414998	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1406217866	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	33	86	0	ENST00000292125.2:c.440A>T	p.Lys147Met	p.K147M	ENST00000292125	NM_002782.4	147	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS12613.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTTGGGA	NONE	.	.	Superfamily_domains:SSF48726,hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955	.	.	ENSP00000292125	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000292125	Transcript	.	.	ENSG00000170848	9523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	PSG6_HUMAN	PSG6	HGNC	.	.	UPI00001327A1	SNV	PSG6,missense_variant,p.Lys147Met,ENST00000187910,;PSG6,missense_variant,p.Lys147Met,ENST00000402603,;PSG6,missense_variant,p.Lys26Met,ENST00000594375,;PSG6,missense_variant,p.Lys147Met,ENST00000292125,;PSG6,downstream_gene_variant,,ENST00000601833,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000484292,;PSG6,upstream_gene_variant,,ENST00000599753,;	485	86	60	SUCCESS
DMPK	1760	.	GRCh37	19	46282568	46282568	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs540031135	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	112	0	ENST00000291270.4:c.386G>A	p.Arg129Gln	p.R129Q	ENST00000291270	NM_004409.3	129	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS46119.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCGCCGG	NONE	by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24356:SF142,hmmpanther:PTHR24356,PROSITE_profiles:PS50011	T:0	.	ENSP00000345997	T:0	3/14	.	.	.	.	.	.	.	.	rs540031135	3/14	PASS	ENST00000343373	Transcript	1	T:0.0002	ENSG00000104936	2933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	T:0.001	tolerated(0.36)	.	DMPK_HUMAN	DMPK	HGNC	E5KR08_HUMAN	.	UPI00001AF19C	SNV	DMPK,missense_variant,p.Arg129Gln,ENST00000291270,;DMPK,missense_variant,p.Arg129Gln,ENST00000458663,;DMPK,missense_variant,p.Arg139Gln,ENST00000600757,;DMPK,missense_variant,p.Arg108Gln,ENST00000596067,;DMPK,missense_variant,p.Arg129Gln,ENST00000447742,;DMPK,missense_variant,p.Arg129Gln,ENST00000354227,;DMPK,missense_variant,p.Arg139Gln,ENST00000343373,;DMPK,upstream_gene_variant,,ENST00000593574,;DMWD,downstream_gene_variant,,ENST00000377735,;AC011530.4,downstream_gene_variant,,ENST00000596586,;DMWD,downstream_gene_variant,,ENST00000270223,;DMWD,downstream_gene_variant,,ENST00000537879,;AC011530.4,downstream_gene_variant,,ENST00000595946,;DMPK,upstream_gene_variant,,ENST00000596920,;DMPK,upstream_gene_variant,,ENST00000595361,;DMPK,3_prime_UTR_variant,,ENST00000588522,;DMPK,non_coding_transcript_exon_variant,,ENST00000599392,;DMPK,non_coding_transcript_exon_variant,,ENST00000598180,;DMPK,non_coding_transcript_exon_variant,,ENST00000596686,;DMPK,upstream_gene_variant,,ENST00000600370,;AC011530.4,downstream_gene_variant,,ENST00000593999,;DMPK,upstream_gene_variant,,ENST00000598191,;AC011530.4,downstream_gene_variant,,ENST00000597712,;DMPK,upstream_gene_variant,,ENST00000599002,;	960	112	61	SUCCESS
GLTSCR1	0	.	GRCh37	19	48201917	48201917	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	85	0	ENST00000396720.3:c.3275A>T	p.Gln1092Leu	p.Q1092L	ENST00000396720	NM_015711.3	1092	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46134.1	3275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGGGCT	NONE	.	.	hmmpanther:PTHR15572:SF1,Pfam_domain:PF15249,hmmpanther:PTHR15572	.	.	ENSP00000379946	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,missense_variant,p.Gln1092Leu,ENST00000396720,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,upstream_gene_variant,,ENST00000602258,;	3469	85	68	SUCCESS
BIRC8	112401	.	GRCh37	19	53793038	53793038	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	42	132	0	ENST00000426466.1:c.590T>G	p.Ile197Ser	p.I197S	ENST00000426466	NM_033341.4	197	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS12863.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGATATGT	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,Gene3D:1.10.1170.10,Pfam_domain:PF13920,SMART_domains:SM00184,Superfamily_domains:SSF57924	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,missense_variant,p.Ile197Ser,ENST00000426466,;FAM90A27P,downstream_gene_variant,,ENST00000593323,;FAM90A27P,downstream_gene_variant,,ENST00000338885,;	1838	132	126	SUCCESS
NLRP12	91662	.	GRCh37	19	54327156	54327156	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	84	0	ENST00000324134.6:c.273A>T	p.Arg91Ser	p.R91S	ENST00000324134	NM_144687.3	91	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12864.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTCTCTG	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000319377	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated(0.07)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Arg91Ser,ENST00000535162,;NLRP12,missense_variant,p.Arg91Ser,ENST00000391775,;NLRP12,missense_variant,p.Arg91Ser,ENST00000354278,;NLRP12,missense_variant,p.Arg91Ser,ENST00000391773,;NLRP12,missense_variant,p.Arg91Ser,ENST00000324134,;NLRP12,missense_variant,p.Arg91Ser,ENST00000391772,;NLRP12,missense_variant,p.Arg91Ser,ENST00000345770,;NLRP12,missense_variant,p.Arg91Ser,ENST00000351894,;	442	84	80	SUCCESS
CD70	970	.	GRCh37	19	6586380	6586380	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777879588	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	19	39	0	ENST00000245903.3:c.233G>T	p.Gly78Val	p.G78V	ENST00000245903	NM_001252.3	78	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12170.1	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCCCCC	NONE	.	.	PROSITE_profiles:PS50049,hmmpanther:PTHR15152:SF0,hmmpanther:PTHR15152,Pfam_domain:PF00229,Gene3D:2.60.120.40,SMART_domains:SM00207,Superfamily_domains:SSF49842	.	.	ENSP00000245903	.	3/3	.	.	.	.	.	.	.	.	rs777879588	3/3	PASS	ENST00000245903	Transcript	.	.	ENSG00000125726	11937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0)	.	CD70_HUMAN	CD70	HGNC	Q53XX4_HUMAN,M0QZW2_HUMAN	.	UPI00001370B6	SNV	CD70,missense_variant,p.Gly78Val,ENST00000423145,;CD70,missense_variant,p.Gly78Val,ENST00000245903,;CD70,downstream_gene_variant,,ENST00000597430,;	383	39	35	SUCCESS
MBD3L5	284428	.	GRCh37	19	7030633	7030633	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	31	0	ENST00000329753.5:c.11C>T	p.Pro4Leu	p.P4L	ENST00000329753	NM_001136507.1	4	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45942.1	11	RADIA|VARSCANS	.	AGAGCCTGCGT	NONE	.	.	.	.	.	ENSP00000331435	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000329753	Transcript	.	.	ENSG00000237247	37204	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.532)	.	deleterious(0.05)	.	MB3L5_HUMAN	MBD3L5	HGNC	.	.	UPI0000141532	SNV	MBD3L5,missense_variant,p.Pro4Leu,ENST00000329753,;	45	31	41	SUCCESS
OR7G1	125962	.	GRCh37	19	9225702	9225702	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	177	0	ENST00000541538.1:c.738T>A	p.Ser246=	p.S246=	ENST00000541538	NM_001005192.2	246	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32898.2	738	RADIA|MUTECT|MUSE	.	AAAACAGAGAG	NONE	.	.	Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF326,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000444134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000541538	Transcript	.	.	ENSG00000161807	8465	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR7G1_HUMAN	OR7G1	HGNC	.	.	UPI0000041C27	SNV	OR7G1,synonymous_variant,p.%3D,ENST00000541538,;OR7G1,synonymous_variant,p.%3D,ENST00000293614,;	738	177	127	SUCCESS
NOTCH2	4853	.	GRCh37	1	120462183	120462183	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	45	130	0	ENST00000256646.2:c.5533A>C	p.Ser1845Arg	p.S1845R	ENST00000256646	NM_024408.3	1845	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS908.1	5533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACTCAAAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,Gene3D:1.25.40.20,SMART_domains:SM00248,PIRSF_domain:PIRSF002279,Superfamily_domains:SSF48403	.	.	ENSP00000256646	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0.03)	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,missense_variant,p.Ser1845Arg,ENST00000256646,;NOTCH2,downstream_gene_variant,,ENST00000493703,;	5753	130	153	SUCCESS
PRAMEF16	0	.	GRCh37	1	13497646	13497646	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs782103090	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	92	1	ENST00000376121.3:c.943C>T	p.Gln315Ter	p.Q315*	ENST00000376121	NM_001045480.1	315	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS41259.1	943	RADIA|VARSCANS	.	TGTCTCAGTAC	NONE	byFrequency	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000365289	.	3/3	.	.	.	.	.	.	.	.	rs782103090	3/3	PASS	ENST00000376121	Transcript	.	.	ENSG00000204488	25767	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRA16_HUMAN	PRAMEF16	HGNC	.	.	UPI00004589BD	SNV	PRAMEF16,stop_gained,p.Gln315Ter,ENST00000376121,;	973	93	19	SUCCESS
PRAMEF20	645425	.	GRCh37	1	13743092	13743092	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779646091	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	126	344	0	ENST00000316412.5:c.281G>A	p.Arg94His	p.R94H	ENST00000316412	NM_001099852.1	94	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS41265.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGTCTCA	NONE	byFrequency	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF21,hmmpanther:PTHR14224	.	.	ENSP00000346275	.	2/4	.	.	.	.	.	.	.	.	rs779646091,COSM4021524	2/4	PASS	ENST00000316412	Transcript	.	.	ENSG00000204478	25224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(0.37)	0,1	PRA20_HUMAN	PRAMEF20	HGNC	.	.	UPI0000237232	SNV	PRAMEF20,missense_variant,p.Arg94His,ENST00000602960,;PRAMEF20,missense_variant,p.Arg94His,ENST00000316412,;	380	344	169	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144886225	144886225	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	27	187	0	ENST00000369354.3:c.3009G>A	p.Gln1003=	p.Q1003=	ENST00000369354		1003	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS55627.1	3009	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCTGAAG	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	23/44	.	.	.	.	.	.	.	.	.	23/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,downstream_gene_variant,,ENST00000491426,;PDE4DIP,downstream_gene_variant,,ENST00000369349,;PDE4DIP,downstream_gene_variant,,ENST00000313431,;PDE4DIP,upstream_gene_variant,,ENST00000530592,;PDE4DIP,downstream_gene_variant,,ENST00000369351,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,downstream_gene_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	3300	187	217	SUCCESS
FLG	2312	.	GRCh37	1	152286383	152286383	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs369816027	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	65	169	0	ENST00000368799.1:c.979G>T	p.Glu327Ter	p.E327*	ENST00000368799	NM_002016.1	327	Gag/Tag	0	T:0.0002	.	.	.	.	A	E/*	protein_coding	YES	CCDS30860.1	979	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCCACG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	T:0	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs369816027,COSM2206807	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,stop_gained,p.Glu327Ter,ENST00000368799,;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	1015	169	193	SUCCESS
FLG	2312	.	GRCh37	1	152286384	152286384	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1019832328	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	64	168	0	ENST00000368799.1:c.978G>A	p.Trp326Ter	p.W326*	ENST00000368799	NM_002016.1	326	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS30860.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCCACGC	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,stop_gained,p.Trp326Ter,ENST00000368799,;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	1014	168	191	SUCCESS
LOR	0	.	GRCh37	1	153234342	153234342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	49	166	0	ENST00000368742.3:c.917C>T	p.Ala306Val	p.A306V	ENST00000368742	NM_000427.2	306	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS30870.1	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCGCCTA	NONE	.	.	.	.	.	ENSP00000357731	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368742	Transcript	.	.	ENSG00000203782	6663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	LORI_HUMAN	LOR	HGNC	Q6FHY3_HUMAN	.	UPI0000470BBD	SNV	LOR,missense_variant,p.Ala306Val,ENST00000368742,;	974	166	192	SUCCESS
CCT3	7203	.	GRCh37	1	156287032	156287032	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	67	188	0	ENST00000295688.3:c.899C>A	p.Ala300Asp	p.A300D	ENST00000295688	NM_005998.4	300	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1140.2	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGCTAAA	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	.	.	ENSP00000295688	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Ala255Asp,ENST00000368261,;CCT3,missense_variant,p.Ala262Asp,ENST00000368259,;CCT3,missense_variant,p.Ala255Asp,ENST00000472765,;CCT3,missense_variant,p.Ala300Asp,ENST00000295688,;CCT3,downstream_gene_variant,,ENST00000446905,;CCT3,downstream_gene_variant,,ENST00000533194,;CCT3,downstream_gene_variant,,ENST00000496684,;CCT3,downstream_gene_variant,,ENST00000413555,;CCT3,downstream_gene_variant,,ENST00000478640,;CCT3,downstream_gene_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,downstream_gene_variant,,ENST00000490221,;	1180	188	225	SUCCESS
KCNJ10	3766	.	GRCh37	1	160011297	160011297	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	31	121	0	ENST00000368089.3:c.1026C>T	p.Leu342=	p.L342=	ENST00000368089	NM_002241.4	342	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1193.1	1026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGGAGGCC	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF21,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Prints_domain:PR01322	.	.	ENSP00000357068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368089	Transcript	.	.	ENSG00000177807	6256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK10_HUMAN	KCNJ10	HGNC	Q9BXC5_HUMAN	.	UPI000012D8A6	SNV	KCNJ10,synonymous_variant,p.%3D,ENST00000368089,;KCNJ10,intron_variant,,ENST00000509700,;	1253	122	121	SUCCESS
POU2F1	5451	.	GRCh37	1	167343488	167343488	+	synonymous_variant	Silent	SNP	G	G	A	rs532966862	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	233	102	296	0	ENST00000541643.3:c.477G>A	p.Thr159=	p.T159=	ENST00000541643		159	acG/acA	0	.	A:0	.	A:0	.	A	T	protein_coding	YES	CCDS1259.2	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGCCCAT	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF47	A:0.001	.	ENSP00000356840	A:0	6/16	.	.	.	.	.	.	.	.	rs532966862	6/16	PASS	ENST00000367866	Transcript	.	A:0.0004	ENSG00000143190	9212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	.	POU2F1	HGNC	J3KP77_HUMAN	.	UPI0000EE3C74	SNV	POU2F1,synonymous_variant,p.%3D,ENST00000420254,;POU2F1,synonymous_variant,p.%3D,ENST00000443275,;POU2F1,synonymous_variant,p.%3D,ENST00000367862,;POU2F1,synonymous_variant,p.%3D,ENST00000367866,;POU2F1,synonymous_variant,p.%3D,ENST00000452019,;POU2F1,synonymous_variant,p.%3D,ENST00000541643,;POU2F1,intron_variant,,ENST00000429375,;RP11-52A20.2,upstream_gene_variant,,ENST00000607611,;POU2F1,non_coding_transcript_exon_variant,,ENST00000492850,;POU2F1,non_coding_transcript_exon_variant,,ENST00000470928,;POU2F1,non_coding_transcript_exon_variant,,ENST00000367865,;POU2F1,downstream_gene_variant,,ENST00000557909,;POU2F1,3_prime_UTR_variant,,ENST00000560232,;POU2F1,3_prime_UTR_variant,,ENST00000271411,;POU2F1,non_coding_transcript_exon_variant,,ENST00000557874,;POU2F1,downstream_gene_variant,,ENST00000442313,;	615	296	335	SUCCESS
PRRC2C	23215	.	GRCh37	1	171511282	171511282	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	99	216	0	ENST00000338920.4:c.4671C>T	p.Asn1557=	p.N1557=	ENST00000338920	NM_015172.3	1557	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS1296.2	4671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAACAATGG	NONE	.	.	hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038	.	.	ENSP00000343629	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,synonymous_variant,p.%3D,ENST00000338920,;PRRC2C,synonymous_variant,p.%3D,ENST00000367742,;PRRC2C,synonymous_variant,p.%3D,ENST00000426496,;PRRC2C,synonymous_variant,p.%3D,ENST00000392078,;PRRC2C,synonymous_variant,p.%3D,ENST00000495585,;	4908	216	295	SUCCESS
MYOC	4653	.	GRCh37	1	171621369	171621369	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766083192	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	34	120	0	ENST00000037502.6:c.383G>A	p.Arg128Gln	p.R128Q	ENST00000037502	NM_000261.1	128	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1297.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCCGCTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF11	.	.	ENSP00000037502	.	1/3	.	.	.	.	.	.	.	.	rs766083192,COSM3478342	1/3	PASS	ENST00000037502	Transcript	.	.	ENSG00000034971	7610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.59)	.	deleterious(0.04)	0,1	MYOC_HUMAN	MYOC	HGNC	B4DV60_HUMAN	.	UPI00000012D6	SNV	MYOC,missense_variant,p.Arg128Gln,ENST00000037502,;	455	120	125	SUCCESS
METTL13	0	.	GRCh37	1	171751072	171751072	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	87	0	ENST00000361735.3:c.-36G>A		p.*12*	ENST00000361735	NM_015935.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1299.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAGGGGAG	NONE	.	.	.	.	.	ENSP00000354920	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,5_prime_UTR_variant,,ENST00000361735,;METTL13,5_prime_UTR_variant,,ENST00000367737,;METTL13,intron_variant,,ENST00000458517,;METTL13,intron_variant,,ENST00000362019,;METTL13,intron_variant,,ENST00000485629,;	231	87	111	SUCCESS
SUCO	51430	.	GRCh37	1	172560202	172560202	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	485	195	616	2	ENST00000263688.3:c.2904A>G	p.Ala968=	p.A968=	ENST00000263688	NM_014283.3	968	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS1303.1	2904	RADIA|VARSCANS	.	ATAGCAGAGGA	NONE	.	.	hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0	.	.	ENSP00000263688	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,synonymous_variant,p.%3D,ENST00000610051,;SUCO,synonymous_variant,p.%3D,ENST00000608151,;SUCO,synonymous_variant,p.%3D,ENST00000367723,;SUCO,synonymous_variant,p.%3D,ENST00000263688,;	3123	619	680	SUCCESS
CACNA1E	777	.	GRCh37	1	181765841	181765841	+	synonymous_variant	Silent	SNP	G	G	A	rs778131872	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	45	141	0	ENST00000367573.2:c.6246G>A	p.Glu2082=	p.E2082=	ENST00000367573	NM_001205293.1	2082	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS55664.1	6246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGCGGGG	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Low_complexity_(Seg):seg	.	.	ENSP00000356545	.	47/48	.	.	.	.	.	.	.	.	rs778131872	47/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;	6246	141	150	SUCCESS
BRINP3	339479	.	GRCh37	1	190423953	190423953	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	68	158	0	ENST00000367462.3:c.68T>A	p.Leu23Gln	p.L23Q	ENST00000367462	NM_199051.1	23	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS1373.1	68	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCAGTGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.445)	.	deleterious_low_confidence(0)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Leu23Gln,ENST00000445957,;BRINP3,missense_variant,p.Leu23Gln,ENST00000367462,;BRINP3,5_prime_UTR_variant,,ENST00000534846,;	300	158	213	SUCCESS
HSPG2	3339	.	GRCh37	1	22180823	22180823	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369444110	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	29	102	0	ENST00000374695.3:c.6302G>A	p.Arg2101His	p.R2101H	ENST00000374695	NM_005529.5	2101	cGt/cAt	0	T:0	T:0	.	T:0.0014	.	T	R/H	protein_coding	YES	CCDS30625.1	6302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACGGGAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	T:0	T:0.0001	ENSP00000363827	T:0	50/97	.	.	.	.	.	.	.	.	rs369444110	50/97	PASS	ENST00000374695	Transcript	.	T:0.0004	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.413)	T:0.001	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Arg51His,ENST00000430507,;HSPG2,missense_variant,p.Arg2101His,ENST00000374695,;HSPG2,non_coding_transcript_exon_variant,,ENST00000493940,;	6382	102	38	SUCCESS
DEGS1	8560	.	GRCh37	1	224380171	224380171	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	31	117	0	ENST00000323699.4:c.963G>A	p.Val321=	p.V321=	ENST00000323699	NM_003676.3	321	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1540.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGCTGGA	NONE	.	.	hmmpanther:PTHR12879,hmmpanther:PTHR12879:SF2,PIRSF_domain:PIRSF017228	.	.	ENSP00000316476	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000323699	Transcript	.	.	ENSG00000143753	13709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEGS1_HUMAN	DEGS1	HGNC	.	.	UPI000007137B	SNV	DEGS1,synonymous_variant,p.%3D,ENST00000391877,;DEGS1,synonymous_variant,p.%3D,ENST00000323699,;DEGS1,downstream_gene_variant,,ENST00000415210,;DEGS1,downstream_gene_variant,,ENST00000465848,;DEGS1,downstream_gene_variant,,ENST00000498813,;	1129	117	134	SUCCESS
OR11L1	391189	.	GRCh37	1	248004283	248004283	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	51	196	0	ENST00000355784.2:c.916A>T	p.Arg306Ter	p.R306*	ENST00000355784	NM_001001959.1	306	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS31098.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTCATGA	NONE	.	.	hmmpanther:PTHR26452:SF12,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000348033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355784	Transcript	.	.	ENSG00000197591	14998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O11L1_HUMAN	OR11L1	HGNC	.	.	UPI0000061EBC	SNV	OR11L1,stop_gained,p.Arg306Ter,ENST00000355784,;	972	196	196	SUCCESS
CEP85	64793	.	GRCh37	1	26601548	26601548	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	35	122	0	ENST00000252992.4:c.1888A>G	p.Thr630Ala	p.T630A	ENST00000252992	NM_022778.3	630	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS277.1	1888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCACAGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF3	.	.	ENSP00000252992	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000252992	Transcript	.	.	ENSG00000130695	25309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.35)	.	CEP85_HUMAN	CEP85	HGNC	.	.	UPI0000231C37	SNV	CEP85,missense_variant,p.Thr630Ala,ENST00000252992,;CEP85,missense_variant,p.Thr579Ala,ENST00000451429,;CEP85,missense_variant,p.Thr304Ala,ENST00000453146,;SH3BGRL3,upstream_gene_variant,,ENST00000270792,;CEP85,non_coding_transcript_exon_variant,,ENST00000469609,;CEP85,non_coding_transcript_exon_variant,,ENST00000491670,;CEP85,downstream_gene_variant,,ENST00000468163,;CEP85,missense_variant,p.Thr630Ala,ENST00000476272,;	2019	122	54	SUCCESS
OSBPL9	114883	.	GRCh37	1	52238325	52238325	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	24	90	0	ENST00000428468.1:c.1100C>T	p.Ser367Phe	p.S367F	ENST00000428468		367	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS44145.1	1130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTCTGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10972:SF27,hmmpanther:PTHR10972	.	.	ENSP00000412733	.	14/24	.	.	.	.	.	.	.	.	COSM4008736,COSM4008734,COSM4008737,COSM4008735,COSM4008733	14/24	PASS	ENST00000447887	Transcript	.	.	ENSG00000117859	16386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(0.961)	.	deleterious(0)	1,1,1,1,1	OSBL9_HUMAN	OSBPL9	HGNC	Q9BRN2_HUMAN,E9PNR1_HUMAN,B3KW33_HUMAN	.	UPI0000167BAD	SNV	OSBPL9,missense_variant,p.Ser367Phe,ENST00000428468,;OSBPL9,missense_variant,p.Ser385Phe,ENST00000371710,;OSBPL9,missense_variant,p.Ser377Phe,ENST00000447887,;OSBPL9,missense_variant,p.Ser189Phe,ENST00000486942,;OSBPL9,missense_variant,p.Ser372Phe,ENST00000337809,;OSBPL9,missense_variant,p.Ser202Phe,ENST00000435686,;OSBPL9,missense_variant,p.Ser354Phe,ENST00000371714,;OSBPL9,missense_variant,p.Ser257Phe,ENST00000361556,;OSBPL9,missense_variant,p.Ser286Phe,ENST00000530544,;OSBPL9,missense_variant,p.Ser202Phe,ENST00000531828,;OSBPL9,missense_variant,p.Ser350Phe,ENST00000453295,;OSBPL9,missense_variant,p.Ser189Phe,ENST00000462759,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000533825,;OSBPL9,3_prime_UTR_variant,,ENST00000528603,;OSBPL9,3_prime_UTR_variant,,ENST00000531061,;OSBPL9,3_prime_UTR_variant,,ENST00000495776,;OSBPL9,3_prime_UTR_variant,,ENST00000489990,;OSBPL9,3_prime_UTR_variant,,ENST00000435274,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000531819,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000475697,;	1149	90	36	SUCCESS
BFSP1	631	.	GRCh37	20	17489605	17489605	+	synonymous_variant	Silent	SNP	G	G	T	rs141217196	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	86	103	0	ENST00000377873.3:c.664C>A	p.Arg222=	p.R222=	ENST00000377873	NM_001195.3	222	Cgg/Agg	0	A:0.0002	.	.	.	.	T	R	protein_coding	YES	CCDS13126.1	664	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGCAGGG	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0	.	A:0	ENSP00000367104	.	5/8	.	.	.	.	.	.	.	.	rs141217196	5/8	PASS	ENST00000377873	Transcript	1	.	ENSG00000125864	1040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BFSP1_HUMAN	BFSP1	HGNC	F5H0G1_HUMAN	.	UPI00001268C7	SNV	BFSP1,synonymous_variant,p.%3D,ENST00000377873,;BFSP1,synonymous_variant,p.%3D,ENST00000544874,;BFSP1,synonymous_variant,p.%3D,ENST00000536626,;BFSP1,synonymous_variant,p.%3D,ENST00000377868,;BFSP1,non_coding_transcript_exon_variant,,ENST00000492424,;BFSP1,downstream_gene_variant,,ENST00000473415,;	704	103	129	SUCCESS
DZANK1	55184	.	GRCh37	20	18433306	18433306	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774909060	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	49	155	0	ENST00000262547.5:c.496G>A	p.Ala166Thr	p.A166T	ENST00000262547	NM_001099407.1	166	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46582.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGCTGGGA	NONE	byFrequency	.	hmmpanther:PTHR16058:SF4,hmmpanther:PTHR16058	.	.	ENSP00000262547	.	6/21	.	.	.	.	.	.	.	.	rs774909060	6/21	PASS	ENST00000262547	Transcript	.	.	ENSG00000089091	15858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.51)	.	DZAN1_HUMAN	DZANK1	HGNC	.	.	UPI0000E064B4	SNV	DZANK1,missense_variant,p.Ala166Thr,ENST00000358866,;DZANK1,missense_variant,p.Ala168Thr,ENST00000329494,;DZANK1,missense_variant,p.Ala166Thr,ENST00000262547,;DZANK1,synonymous_variant,p.%3D,ENST00000357236,;DZANK1,non_coding_transcript_exon_variant,,ENST00000487128,;DZANK1,intron_variant,,ENST00000460891,;DZANK1,upstream_gene_variant,,ENST00000470526,;DZANK1,missense_variant,p.Ala166Thr,ENST00000609267,;DZANK1,missense_variant,p.Ala166Thr,ENST00000608192,;DZANK1,intron_variant,,ENST00000377630,;	705	155	180	SUCCESS
CEP250	11190	.	GRCh37	20	34067158	34067158	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376769176	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	62	150	0	ENST00000397527.1:c.2197G>A	p.Ala733Thr	p.A733T	ENST00000397527	NM_007186.3	733	Gcc/Acc	0	A:0.0002	.	.	.	.	A	A/T	protein_coding	YES	CCDS13255.1	2197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGCCCTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	A:0	ENSP00000380661	.	18/35	.	.	.	.	.	.	.	.	rs376769176	18/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Ala733Thr,ENST00000342580,;CEP250,missense_variant,p.Ala733Thr,ENST00000397527,;CEP250,downstream_gene_variant,,ENST00000425934,;CEP250,downstream_gene_variant,,ENST00000425096,;RP3-477O4.14,intron_variant,,ENST00000416260,;RP3-477O4.14,intron_variant,,ENST00000444933,;RP3-477O4.14,intron_variant,,ENST00000453914,;CEP250,downstream_gene_variant,,ENST00000461386,;	2917	150	210	SUCCESS
ZBTB46	140685	.	GRCh37	20	62421227	62421227	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770925142	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	34	0	ENST00000245663.4:c.884C>A	p.Pro295Gln	p.P295Q	ENST00000245663	NM_025224.3	295	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS13538.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGGGGAG	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118	.	.	ENSP00000245663	.	2/5	.	.	.	.	.	.	.	.	rs770925142	2/5	PASS	ENST00000245663	Transcript	.	.	ENSG00000130584	16094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZBT46_HUMAN	ZBTB46	HGNC	.	.	UPI0000206406	SNV	ZBTB46,missense_variant,p.Pro295Gln,ENST00000302995,;ZBTB46,missense_variant,p.Pro295Gln,ENST00000395104,;ZBTB46,missense_variant,p.Pro295Gln,ENST00000245663,;ZBTB46,upstream_gene_variant,,ENST00000480766,;	1035	34	49	SUCCESS
DSCAM	1826	.	GRCh37	21	41725592	41725592	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	67	0	ENST00000400454.1:c.734C>G	p.Pro245Arg	p.P245R	ENST00000400454	NM_001271534.1	245	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS42929.1	734	RADIA|MUTECT|MUSE	.	TGCAAGGCAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Pro245Arg,ENST00000400454,;DSCAM,upstream_gene_variant,,ENST00000404019,;	1212	67	48	SUCCESS
LZTR1	8216	.	GRCh37	22	21348307	21348307	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	111	0	ENST00000215739.8:c.1448A>T	p.Gln483Leu	p.Q483L	ENST00000215739	NM_006767.3	483	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS33606.1	1448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCAGGTGA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000215739	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000215739	Transcript	.	.	ENSG00000099949	6742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.07)	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	SNV	LZTR1,missense_variant,p.Gln483Leu,ENST00000215739,;LZTR1,missense_variant,p.Gln464Leu,ENST00000389355,;LZTR1,upstream_gene_variant,,ENST00000415817,;LZTR1,splice_region_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,splice_region_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000452988,;LZTR1,upstream_gene_variant,,ENST00000498649,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000463909,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1807	111	85	SUCCESS
EIF4ENIF1	56478	.	GRCh37	22	31851912	31851912	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	136	0	ENST00000330125.5:c.1025C>T	p.Ser342Phe	p.S342F	ENST00000330125	NM_019843.3	342	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS13898.1	1025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTAGAGAAC	NONE	.	.	Pfam_domain:PF10477,hmmpanther:PTHR12269	.	.	ENSP00000380659	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000397525	Transcript	.	.	ENSG00000184708	16687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	4ET_HUMAN	EIF4ENIF1	HGNC	B1AKL6_HUMAN,B1AKL5_HUMAN	.	UPI0000124F14	SNV	EIF4ENIF1,missense_variant,p.Ser21Phe,ENST00000382180,;EIF4ENIF1,missense_variant,p.Ser179Phe,ENST00000344710,;EIF4ENIF1,missense_variant,p.Ser342Phe,ENST00000397525,;EIF4ENIF1,missense_variant,p.Ser342Phe,ENST00000397523,;EIF4ENIF1,missense_variant,p.Ser342Phe,ENST00000330125,;EIF4ENIF1,upstream_gene_variant,,ENST00000418321,;RP11-247I13.11,intron_variant,,ENST00000464523,;DRG1,intron_variant,,ENST00000548143,;EIF4ENIF1,upstream_gene_variant,,ENST00000495101,;	1249	136	132	SUCCESS
XIRP2	129446	.	GRCh37	2	167992505	167992505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	91	0	ENST00000409195.1:c.495C>A	p.Asp165Glu	p.D165E	ENST00000409195	NM_152381.5	165	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS42769.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACAAGAA	NONE	.	.	.	.	.	ENSP00000386840	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Asp165Glu,ENST00000409195,;XIRP2,missense_variant,p.Asp165Glu,ENST00000420519,;XIRP2,missense_variant,p.Asp165Glu,ENST00000409756,;XIRP2,missense_variant,p.Asp165Glu,ENST00000409043,;XIRP2,missense_variant,p.Asp165Glu,ENST00000409728,;XIRP2,missense_variant,p.Asp165Glu,ENST00000295237,;XIRP2-AS1,intron_variant,,ENST00000525330,;	584	91	70	SUCCESS
KLHL41	10324	.	GRCh37	2	170377511	170377511	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	113	0	ENST00000284669.1:c.1703T>C	p.Ile568Thr	p.I568T	ENST00000284669	NM_006063.2	568	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS2234.1	1703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATATGGA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000284669	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000284669	Transcript	.	.	ENSG00000239474	16905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	KLH41_HUMAN	KLHL41	HGNC	.	.	UPI0000000DC5	SNV	BBS5,missense_variant,p.Ile506Thr,ENST00000554017,;KLHL41,missense_variant,p.Ile568Thr,ENST00000284669,;RP11-724O16.1,missense_variant,p.Ile506Thr,ENST00000513963,;KLHL41,non_coding_transcript_exon_variant,,ENST00000463400,;	1780	113	87	SUCCESS
MYO3B	140469	.	GRCh37	2	171323102	171323102	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	97	0	ENST00000408978.4:c.2895C>A	p.Ala965=	p.A965=	ENST00000408978	NM_138995.4	965	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42773.1	2895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCTGCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	25/35	.	.	.	.	.	.	.	.	.	25/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,synonymous_variant,p.%3D,ENST00000484338,;MYO3B,synonymous_variant,p.%3D,ENST00000408978,;MYO3B,synonymous_variant,p.%3D,ENST00000334231,;MYO3B,synonymous_variant,p.%3D,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,intron_variant,,ENST00000602629,;MYO3B,synonymous_variant,p.%3D,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	3038	97	79	SUCCESS
TTN	7273	.	GRCh37	2	179639715	179639715	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	60	117	0	ENST00000591111.1:c.6723T>A	p.Ala2241=	p.A2241=	ENST00000591111		2241	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS59435.1	6723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGCATC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	29/363	.	.	.	.	.	.	.	.	.	29/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000360870,;TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	6948	117	118	SUCCESS
DNAH7	56171	.	GRCh37	2	196822068	196822068	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758668415	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	122	363	0	ENST00000312428.6:c.2995A>G	p.Ile999Val	p.I999V	ENST00000312428	NM_018897.2	999	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS42794.1	2995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAATGTCTG	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000311273	.	19/65	.	.	.	.	.	.	.	.	rs758668415	19/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Ile999Val,ENST00000312428,;	3096	363	295	SUCCESS
BMPR2	659	.	GRCh37	2	203420413	203420413	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	73	0	ENST00000374580.4:c.2025G>A	p.Lys675=	p.K675=	ENST00000374580	NM_001204.6	675	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS33361.1	2025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAGAACCT	NONE	.	.	.	.	.	ENSP00000363708	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000374580	Transcript	.	.	ENSG00000204217	1078	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMPR2_HUMAN	BMPR2	HGNC	.	.	UPI0000126A3B	SNV	BMPR2,synonymous_variant,p.%3D,ENST00000374580,;BMPR2,intron_variant,,ENST00000374574,;	2564	74	54	SUCCESS
EPHA4	2043	.	GRCh37	2	222301170	222301170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	85	0	ENST00000281821.2:c.2295T>A	p.Phe765Leu	p.F765L	ENST00000281821	NM_004438.3	765	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS2447.1	2295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCAAAATC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,SMART_domains:SM00220,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000281821	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	tolerated(0.05)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Phe765Leu,ENST00000281821,;EPHA4,missense_variant,p.Phe765Leu,ENST00000409854,;EPHA4,missense_variant,p.Phe714Leu,ENST00000392071,;EPHA4,missense_variant,p.Phe765Leu,ENST00000409938,;EPHA4,upstream_gene_variant,,ENST00000424339,;EPHA4,downstream_gene_variant,,ENST00000495693,;	2337	85	75	SUCCESS
ANKMY1	51281	.	GRCh37	2	241463346	241463346	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769619718	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	49	0	ENST00000272972.3:c.1521C>A	p.Ser507Arg	p.S507R	ENST00000272972	NM_016552.2	507	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS2536.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAAGCTGCT	NONE	.	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897	.	.	ENSP00000375847	.	8/18	.	.	.	.	.	.	.	.	rs769619718	8/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.171)	.	tolerated(0.29)	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,missense_variant,p.Ser366Arg,ENST00000405523,;ANKMY1,missense_variant,p.Ser507Arg,ENST00000391987,;ANKMY1,missense_variant,p.Ser366Arg,ENST00000361678,;ANKMY1,missense_variant,p.Ser277Arg,ENST00000405002,;ANKMY1,missense_variant,p.Ser277Arg,ENST00000373320,;ANKMY1,missense_variant,p.Ser445Arg,ENST00000403283,;ANKMY1,missense_variant,p.Ser596Arg,ENST00000401804,;ANKMY1,missense_variant,p.Ser507Arg,ENST00000272972,;ANKMY1,missense_variant,p.Ser319Arg,ENST00000536462,;ANKMY1,missense_variant,p.Ser366Arg,ENST00000373318,;ANKMY1,missense_variant,p.Ser268Arg,ENST00000406958,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;	1888	49	45	SUCCESS
DNMT3A	1788	.	GRCh37	2	25466768	25466768	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	rs1166765403	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	72	0	ENST00000264709.3:c.1935A>T		p.X645_splice	ENST00000264709	NM_175629.2	645	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33157.1	1935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTGTAGC	NONE	.	.	PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Pfam_domain:PF00145,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000264709	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000264709	Transcript	.	.	ENSG00000119772	2978	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNM3A_HUMAN	DNMT3A	HGNC	Q8WVA9_HUMAN,Q6PJ37_HUMAN	.	UPI000000DA70	SNV	DNMT3A,synonymous_variant,p.%3D,ENST00000321117,;DNMT3A,synonymous_variant,p.%3D,ENST00000402667,;DNMT3A,synonymous_variant,p.%3D,ENST00000380746,;DNMT3A,synonymous_variant,p.%3D,ENST00000264709,;DNMT3A,splice_region_variant,,ENST00000491288,;DNMT3A,splice_region_variant,,ENST00000482935,;DNMT3A,splice_region_variant,,ENST00000461228,;DNMT3A,splice_region_variant,,ENST00000474887,;DNMT3A,downstream_gene_variant,,ENST00000470983,;DNMT3A,downstream_gene_variant,,ENST00000496570,;DNMT3A,synonymous_variant,p.%3D,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000474807,;DNMT3A,downstream_gene_variant,,ENST00000484184,;DNMT3A,upstream_gene_variant,,ENST00000466601,;	2273	72	39	SUCCESS
FAM179A	0	.	GRCh37	2	29268229	29268229	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371609539	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	37	0	ENST00000379558.4:c.2675G>A	p.Arg892His	p.R892H	ENST00000379558	NM_199280.2	892	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS1769.2	2675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGTTTCC	NONE	byCluster	.	hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	A:0	ENSP00000368876	.	19/20	.	.	.	.	.	.	.	.	rs371609539	19/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.05)	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,missense_variant,p.Arg837His,ENST00000403861,;FAM179A,missense_variant,p.Arg892His,ENST00000379558,;FAM179A,non_coding_transcript_exon_variant,,ENST00000465300,;FAM179A,non_coding_transcript_exon_variant,,ENST00000475900,;	3026	37	36	SUCCESS
XPO1	7514	.	GRCh37	2	61719528	61719528	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	107	322	3	ENST00000401558.2:c.1655C>A	p.Pro552Gln	p.P552Q	ENST00000401558	NM_003400.3	552	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS33205.1	1655	RADIA|VARSCANS	.	AACGTGGGTAT	NONE	.	.	hmmpanther:PTHR11223,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Pro552Gln,ENST00000404992,;XPO1,missense_variant,p.Pro552Gln,ENST00000401558,;XPO1,missense_variant,p.Pro552Gln,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000469337,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000475744,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,upstream_gene_variant,,ENST00000461407,;	2383	325	257	SUCCESS
SLC6A1	6529	.	GRCh37	3	11064071	11064089	+	frameshift_variant	Frame_Shift_Del	DEL	CGCTGGCCACTGGCCATCA	CGCTGGCCACTGGCCATCA	-	rs1553688970	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	CGCTGGCCACTGGCCATCA	CGCTGGCCACTGGCCATCA	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	115	0	ENST00000287766.4:c.640_658del	p.Leu214SerfsTer32	p.L214Sfs*32	ENST00000287766	NM_003042.3	211	CGCTGGCCACTGGCCATCAcg/cg	0	.	.	.	.	.	-	RWPLAIT/X	protein_coding	YES	CCDS2603.1	631-649	INDELOCATOR|VARSCANI	.	CAGATCCGCTGGCCACTGGCCATCACGCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF138,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR01195	.	.	ENSP00000287766	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000287766	Transcript	.	.	ENSG00000157103	11042	9	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SC6A1_HUMAN	SLC6A1	HGNC	C9J5P8_HUMAN,B7Z3C5_HUMAN	.	UPI000013DECF	deletion	SLC6A1,frameshift_variant,p.Leu36SerfsTer32,ENST00000536032,;SLC6A1,frameshift_variant,p.Leu214SerfsTer32,ENST00000287766,;SLC6A1-AS1,upstream_gene_variant,,ENST00000414969,;SLC6A1,non_coding_transcript_exon_variant,,ENST00000460480,;SLC6A1,downstream_gene_variant,,ENST00000462473,;	1052-1070	115	79	SUCCESS
COL6A6	131873	.	GRCh37	3	130290002	130290002	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	49	124	0	ENST00000358511.6:c.2742C>T	p.Val914=	p.V914=	ENST00000358511	NM_001102608.1	914	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS46911.1	2742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCTCAT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453	.	.	ENSP00000351310	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,synonymous_variant,p.%3D,ENST00000453409,;COL6A6,synonymous_variant,p.%3D,ENST00000358511,;	2773	124	95	SUCCESS
CPA3	1359	.	GRCh37	3	148596536	148596536	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs776955071	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	54	137	0	ENST00000296046.3:c.474+1G>A		p.X158_splice	ENST00000296046	NM_001870.2	158		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3138.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTAAAA	NONE	.	.	.	.	.	ENSP00000296046	.	.	.	.	.	.	.	.	.	.	rs776955071,COSM728824	.	PASS	ENST00000296046	Transcript	.	.	ENSG00000163751	2298	.	.	HIGH	5/10	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CBPA3_HUMAN	CPA3	HGNC	.	.	UPI000013E2F4	SNV	CPA3,splice_donor_variant,,ENST00000296046,;RP11-680B3.2,intron_variant,,ENST00000488190,;CPA3,upstream_gene_variant,,ENST00000477926,;	.	137	114	SUCCESS
IL17RB	55540	.	GRCh37	3	53891011	53891011	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	44	130	1	ENST00000288167.3:c.670G>C	p.Glu224Gln	p.E224Q	ENST00000288167	NM_018725.3	224	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS2874.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTGAGGTA	NONE	.	.	hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF6	.	.	ENSP00000288167	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000288167	Transcript	.	.	ENSG00000056736	18015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0.05)	.	I17RB_HUMAN	IL17RB	HGNC	.	.	UPI0000038A0B	SNV	IL17RB,missense_variant,p.Glu208Gln,ENST00000494338,;IL17RB,missense_variant,p.Glu224Gln,ENST00000288167,;RP11-884K10.7,downstream_gene_variant,,ENST00000607783,;IL17RB,splice_region_variant,,ENST00000475124,;	679	131	95	SUCCESS
INTS12	57117	.	GRCh37	4	106614468	106614468	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1352937026	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	51	196	0	ENST00000340139.5:c.485G>A	p.Cys162Tyr	p.C162Y	ENST00000340139	NM_020395.3	162	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS3671.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGCAGGCC	NONE	.	.	Superfamily_domains:SSF57903,SMART_domains:SM00249,Pfam_domain:PF00628,Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR13415,PROSITE_profiles:PS50016	.	.	ENSP00000415433	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000451321	Transcript	.	.	ENSG00000138785	25067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INT12_HUMAN	INTS12	HGNC	E9PGI3_HUMAN,C9JDP3_HUMAN,C9J0M6_HUMAN	.	UPI0000072C63	SNV	INTS12,missense_variant,p.Cys162Tyr,ENST00000394735,;INTS12,missense_variant,p.Cys162Tyr,ENST00000451321,;INTS12,missense_variant,p.Cys162Tyr,ENST00000340139,;INTS12,downstream_gene_variant,,ENST00000503746,;INTS12,downstream_gene_variant,,ENST00000433009,;INTS12,downstream_gene_variant,,ENST00000416543,;INTS12,downstream_gene_variant,,ENST00000420368,;ARHGEF38,intron_variant,,ENST00000503289,;ARHGEF38,upstream_gene_variant,,ENST00000510406,;	965	196	69	SUCCESS
EGF	1950	.	GRCh37	4	110885652	110885652	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs529423872	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	76	212	0	ENST00000265171.5:c.1534G>A	p.Gly512Arg	p.G512R	ENST00000265171	NM_001963.4	512	Gga/Aga	0	.	A:0.0008	.	A:0	.	A	G/R	protein_coding	YES	CCDS3689.1	1534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGGAATG	NONE	by1000G	.	Superfamily_domains:SSF63825,PIRSF_domain:PIRSF001778,SMART_domains:SM00135,Gene3D:2.120.10.30,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	A:0	.	ENSP00000265171	A:0	10/24	.	.	.	.	.	.	.	.	rs529423872	10/24	PASS	ENST00000265171	Transcript	1	A:0.0002	ENSG00000138798	3229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,missense_variant,p.Gly512Arg,ENST00000503392,;EGF,missense_variant,p.Gly512Arg,ENST00000265171,;EGF,missense_variant,p.Gly470Arg,ENST00000509793,;EGF,upstream_gene_variant,,ENST00000502579,;EGF,downstream_gene_variant,,ENST00000504633,;	1979	212	99	SUCCESS
ALPK1	80216	.	GRCh37	4	113332992	113332992	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	32	66	0	ENST00000177648.9:c.286A>T	p.Arg96Trp	p.R96W	ENST00000177648		96	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS3697.1	286	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCTGAGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30	.	.	ENSP00000398048	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000458497	Transcript	.	.	ENSG00000073331	20917	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	ALPK1_HUMAN	ALPK1	HGNC	.	.	UPI000045725F	SNV	ALPK1,missense_variant,p.Arg96Trp,ENST00000458497,;ALPK1,missense_variant,p.Arg18Trp,ENST00000504176,;ALPK1,missense_variant,p.Arg96Trp,ENST00000177648,;ALPK1,non_coding_transcript_exon_variant,,ENST00000505912,;ALPK1,missense_variant,p.Glu44Val,ENST00000515106,;ALPK1,missense_variant,p.Arg96Trp,ENST00000505127,;ALPK1,missense_variant,p.Glu44Val,ENST00000509722,;ALPK1,missense_variant,p.Arg96Trp,ENST00000515330,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;	565	66	43	SUCCESS
PROM1	8842	.	GRCh37	4	16077499	16077499	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	52	126	0	ENST00000447510.2:c.31C>T	p.Leu11=	p.L11=	ENST00000447510	NM_006017.2	11	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47029.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3	.	.	ENSP00000426809	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000510224	Transcript	1	.	ENSG00000007062	9454	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROM1_HUMAN	PROM1	HGNC	D6RIF3_HUMAN,D6RBI0_HUMAN	.	UPI000004ECD6	SNV	PROM1,synonymous_variant,p.%3D,ENST00000508322,;PROM1,synonymous_variant,p.%3D,ENST00000514967,;PROM1,synonymous_variant,p.%3D,ENST00000543373,;PROM1,synonymous_variant,p.%3D,ENST00000539194,;PROM1,synonymous_variant,p.%3D,ENST00000508940,;PROM1,synonymous_variant,p.%3D,ENST00000505450,;PROM1,synonymous_variant,p.%3D,ENST00000508167,;PROM1,synonymous_variant,p.%3D,ENST00000510224,;PROM1,synonymous_variant,p.%3D,ENST00000447510,;PROM1,synonymous_variant,p.%3D,ENST00000540805,;PROM1,downstream_gene_variant,,ENST00000502501,;PROM1,downstream_gene_variant,,ENST00000512304,;PROM1,downstream_gene_variant,,ENST00000504842,;PROM1,downstream_gene_variant,,ENST00000514693,;PROM1,downstream_gene_variant,,ENST00000513108,;PROM1,upstream_gene_variant,,ENST00000511153,;	280	126	141	SUCCESS
PPARGC1A	10891	.	GRCh37	4	23803848	23803848	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	36	123	0	ENST00000264867.2:c.2140G>T	p.Gly714Ter	p.G714*	ENST00000264867	NM_013261.3	714	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS3429.1	2140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCATCAT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000264867	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000264867	Transcript	1	.	ENSG00000109819	9237	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRGC1_HUMAN	PPARGC1A	HGNC	G8DM16_HUMAN	.	UPI000004D072	SNV	PPARGC1A,stop_gained,p.Gly714Ter,ENST00000264867,;PPARGC1A,splice_region_variant,,ENST00000509702,;PPARGC1A,splice_region_variant,,ENST00000506055,;	2260	123	150	SUCCESS
CWH43	80157	.	GRCh37	4	48990664	48990664	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	37	137	0	ENST00000226432.4:c.214C>A	p.Leu72Met	p.L72M	ENST00000226432	NM_025087.2	72	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS3486.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCCTGCTG	NONE	.	.	hmmpanther:PTHR14859:SF0,hmmpanther:PTHR14859	.	.	ENSP00000226432	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000226432	Transcript	.	.	ENSG00000109182	26133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.01)	.	PG2IP_HUMAN	CWH43	HGNC	E7EQL2_HUMAN,D6RDZ8_HUMAN	.	UPI000020BC89	SNV	CWH43,missense_variant,p.Leu45Met,ENST00000513409,;CWH43,missense_variant,p.Leu72Met,ENST00000226432,;CWH43,missense_variant,p.Leu72Met,ENST00000514053,;	397	137	136	SUCCESS
DMP1	1758	.	GRCh37	4	88583327	88583327	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	62	156	0	ENST00000339673.6:c.397A>T	p.Arg133Ter	p.R133*	ENST00000339673	NM_004407.3	133	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS3623.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGACTG	NONE	.	.	hmmpanther:PTHR23400,hmmpanther:PTHR23400:SF0,Pfam_domain:PF07263	.	.	ENSP00000340935	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000339673	Transcript	1	.	ENSG00000152592	2932	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMP1_HUMAN	DMP1	HGNC	.	.	UPI00001294DE	SNV	DMP1,stop_gained,p.Arg133Ter,ENST00000339673,;DMP1,stop_gained,p.Arg117Ter,ENST00000282479,;RP11-742B18.1,intron_variant,,ENST00000506480,;RP11-742B18.1,intron_variant,,ENST00000507894,;RP11-742B18.1,upstream_gene_variant,,ENST00000506814,;	496	156	85	SUCCESS
GRID2	2895	.	GRCh37	4	93225734	93225734	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	35	76	0	ENST00000282020.4:c.-74A>G		p.*25*	ENST00000282020	NM_001510.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3637.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCAAACTC	NONE	.	.	.	.	.	ENSP00000282020	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000282020	Transcript	1	.	ENSG00000152208	4576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRID2_HUMAN	GRID2	HGNC	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN	.	UPI00001AEA78	SNV	GRID2,5_prime_UTR_variant,,ENST00000282020,;RP11-9B6.1,upstream_gene_variant,,ENST00000504213,;GRID2,upstream_gene_variant,,ENST00000510992,;GRID2,non_coding_transcript_exon_variant,,ENST00000505687,;	185	76	50	SUCCESS
ST8SIA4	7903	.	GRCh37	5	100222044	100222044	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	44	143	0	ENST00000231461.5:c.503+3G>T		p.X168_splice	ENST00000231461	NM_005668.5	168		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4091.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCACCTT	NONE	.	.	.	.	.	ENSP00000231461	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231461	Transcript	.	.	ENSG00000113532	10871	.	.	LOW	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA8D_HUMAN	ST8SIA4	HGNC	.	.	UPI0000135973	SNV	ST8SIA4,stop_lost,p.Ter169LeuextTer9,ENST00000451528,;ST8SIA4,splice_region_variant,,ENST00000231461,;ST8SIA4,downstream_gene_variant,,ENST00000507360,;	.	143	111	SUCCESS
STARD4	134429	.	GRCh37	5	110835941	110835941	+	intron_variant	Intron	SNP	T	T	C	rs559211053	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	12	0	ENST00000296632.3:c.398-137A>G		p.*133*	ENST00000296632	NM_139164.1			0	.	C:0	.	C:0.0014	.	C	.	protein_coding	YES	CCDS4104.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCATGGCAG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000296632	C:0.002	.	.	.	.	.	.	.	.	.	rs559211053	.	PASS	ENST00000296632	Transcript	.	C:0.0008	ENSG00000164211	18058	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	C:0.001	.	.	STAR4_HUMAN	STARD4	HGNC	Q86T95_HUMAN,D6RIC8_HUMAN,B0AZS2_HUMAN	.	UPI0000136135	SNV	STARD4,3_prime_UTR_variant,,ENST00000502322,;STARD4,intron_variant,,ENST00000505803,;STARD4,intron_variant,,ENST00000296632,;STARD4,intron_variant,,ENST00000512160,;STARD4,downstream_gene_variant,,ENST00000509887,;STARD4,intron_variant,,ENST00000502931,;STARD4,downstream_gene_variant,,ENST00000511436,;STARD4,downstream_gene_variant,,ENST00000511569,;STARD4,downstream_gene_variant,,ENST00000510346,;STARD4,intron_variant,,ENST00000511137,;STARD4,downstream_gene_variant,,ENST00000455172,;	.	12	15	SUCCESS
APC	324	.	GRCh37	5	112179352	112179352	+	synonymous_variant	Silent	SNP	A	A	T	rs746180965	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	61	155	0	ENST00000257430.4:c.8061A>T	p.Ser2687=	p.S2687=	ENST00000257430	NM_000038.5	2687	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4107.1	8061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCAGAAAA	NONE	byFrequency	.	hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Pfam_domain:PF05937	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	rs746180965	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,synonymous_variant,p.%3D,ENST00000457016,;APC,synonymous_variant,p.%3D,ENST00000257430,;APC,synonymous_variant,p.%3D,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000508624,;	8441	155	121	SUCCESS
SEMA6A	57556	.	GRCh37	5	115782745	115782745	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753365134	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	108	0	ENST00000343348.6:c.2657C>A	p.Ala886Asp	p.A886D	ENST00000343348	NM_020796.3	886	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS47256.1	2657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCCTCC	NONE	.	.	hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036	.	.	ENSP00000345512	.	19/19	.	.	.	.	.	.	.	.	rs753365134	19/19	PASS	ENST00000343348	Transcript	.	.	ENSG00000092421	10738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	SEM6A_HUMAN	SEMA6A	HGNC	D6RCR0_HUMAN,D6RAG9_HUMAN	.	UPI000020C463	SNV	SEMA6A,missense_variant,p.Ala886Asp,ENST00000510263,;SEMA6A,missense_variant,p.Ala401Asp,ENST00000515129,;SEMA6A,missense_variant,p.Ala903Asp,ENST00000257414,;SEMA6A,missense_variant,p.Ala313Asp,ENST00000513137,;SEMA6A,missense_variant,p.Ala363Asp,ENST00000282394,;SEMA6A,missense_variant,p.Ala265Asp,ENST00000503865,;SEMA6A,missense_variant,p.Ala886Asp,ENST00000343348,;CTB-118N6.3,upstream_gene_variant,,ENST00000512128,;CTB-118N6.3,upstream_gene_variant,,ENST00000510682,;CTB-118N6.3,upstream_gene_variant,,ENST00000514214,;CTB-118N6.3,upstream_gene_variant,,ENST00000508424,;CTB-118N6.3,upstream_gene_variant,,ENST00000508640,;SEMA6A,downstream_gene_variant,,ENST00000506114,;AC010296.1,upstream_gene_variant,,ENST00000542571,;	3445	108	89	SUCCESS
PRRC1	133619	.	GRCh37	5	126887403	126887403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	188	2	ENST00000296666.8:c.1133A>G	p.Gln378Arg	p.Q378R	ENST00000296666	NM_130809.3	378	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4143.1	1133	RADIA|SOMATICSNIPER|VARSCANS	.	GGCTCAAAGTC	NONE	.	.	Superfamily_domains:SSF52972,Gene3D:3.90.950.10,hmmpanther:PTHR23276,hmmpanther:PTHR23276:SF1	.	.	ENSP00000296666	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000296666	Transcript	.	.	ENSG00000164244	28164	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.093)	.	tolerated(0.07)	.	PRRC1_HUMAN	PRRC1	HGNC	.	.	UPI0000073C8E	SNV	PRRC1,missense_variant,p.Gln378Arg,ENST00000296666,;PRRC1,missense_variant,p.Gln378Arg,ENST00000512635,;PRRC1,3_prime_UTR_variant,,ENST00000442138,;PRRC1,non_coding_transcript_exon_variant,,ENST00000513427,;	1321	190	126	SUCCESS
PROB1	389333	.	GRCh37	5	138728542	138728542	+	synonymous_variant	Silent	SNP	G	G	A	rs1374356806	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	6	95	0	ENST00000434752.2:c.2229C>T	p.Arg743=	p.R743=	ENST00000434752	NM_001161546.1	743	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54909.1	2229	MUTECT|MUSE|VARSCANS	.	GGCCGGCGACC	BUFFER|p.E746E|c.2238G>A|3	.	.	.	.	.	ENSP00000416033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434752	Transcript	.	.	ENSG00000228672	41906	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PROB1_HUMAN	PROB1	HGNC	.	.	UPI00001974A9	SNV	PROB1,synonymous_variant,p.%3D,ENST00000434752,;MZB1,upstream_gene_variant,,ENST00000412103,;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;SPATA24,downstream_gene_variant,,ENST00000450845,;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,;MZB1,upstream_gene_variant,,ENST00000457570,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000513389,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000503120,;	2344	95	74	SUCCESS
IGIP	492311	.	GRCh37	5	139507512	139507514	+	5_prime_UTR_variant	5'UTR	DEL	AAG	AAG	-	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	85	0	ENST00000333305.3:c.-546_-544del		p.*182*	ENST00000333305	NM_001007189.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34244.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTATAAAGAAGAC	NONE	.	.	.	.	.	ENSP00000327344	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333305	Transcript	.	.	ENSG00000182700	33847	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGIP_HUMAN	IGIP	HGNC	.	.	UPI000046D390	deletion	IGIP,5_prime_UTR_variant,,ENST00000333305,;	1992-1994	85	53	SUCCESS
GM2A	2760	.	GRCh37	5	150646346	150646346	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	61	0	ENST00000357164.3:c.298A>G	p.Thr100Ala	p.T100A	ENST00000357164	NM_000405.4	100	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS4313.1	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCACAGAC	NONE	.	.	hmmpanther:PTHR17357,Pfam_domain:PF02221,Gene3D:2ag4A00,SMART_domains:SM00737,Superfamily_domains:0037883	.	.	ENSP00000349687	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000357164	Transcript	1	.	ENSG00000196743	4367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0)	.	SAP3_HUMAN	GM2A	HGNC	.	.	UPI00001AEC37	SNV	GM2A,missense_variant,p.Thr115Ala,ENST00000523466,;GM2A,missense_variant,p.Thr59Ala,ENST00000523004,;GM2A,missense_variant,p.Thr100Ala,ENST00000357164,;	623	61	44	SUCCESS
CDH18	1016	.	GRCh37	5	19473795	19473795	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs565236156	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	37	0	ENST00000274170.4:c.1913G>T	p.Arg638Leu	p.R638L	ENST00000274170		638	cGc/cTc	0	.	T:0	.	T:0.0014	.	A	R/L	protein_coding	YES	CCDS3889.1	1913	MUTECT|MUSE	.	TGCTGCGCCTC	BUFFER|p.R638C|c.1912C>T|3,BUFFER|p.R638C|c.1912C>T|3	by1000G	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	T:0	.	ENSP00000425093	T:0	15/15	.	.	.	.	.	.	.	.	rs565236156,COSM1066977,COSM1066978	15/15	PASS	ENST00000507958	Transcript	.	T:0.0002	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	possibly_damaging(0.733)	T:0	deleterious(0)	0,1,1	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Arg638Leu,ENST00000382275,;CDH18,missense_variant,p.Arg638Leu,ENST00000274170,;CDH18,missense_variant,p.Arg638Leu,ENST00000507958,;CDH18,3_prime_UTR_variant,,ENST00000515257,;CDH18,3_prime_UTR_variant,,ENST00000506372,;CDH18,3_prime_UTR_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	2904	37	32	SUCCESS
CDH18	1016	.	GRCh37	5	19473796	19473796	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765244838	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	37	0	ENST00000274170.4:c.1912C>T	p.Arg638Cys	p.R638C	ENST00000274170		638	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3889.1	1912	MUTECT|MUSE	.	GCTGCGCCTCA	SITE|p.R638C|c.1912C>T|3	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	.	.	ENSP00000425093	.	15/15	.	.	.	.	.	.	.	.	rs765244838,COSM1200432,COSM1200433	15/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.938)	.	deleterious(0.01)	0,1,1	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Arg638Cys,ENST00000382275,;CDH18,missense_variant,p.Arg638Cys,ENST00000274170,;CDH18,missense_variant,p.Arg638Cys,ENST00000507958,;CDH18,3_prime_UTR_variant,,ENST00000515257,;CDH18,3_prime_UTR_variant,,ENST00000506372,;CDH18,3_prime_UTR_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	2903	37	32	SUCCESS
CDH9	1007	.	GRCh37	5	26902662	26902662	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	32	63	0	ENST00000231021.4:c.1176A>T	p.Val392=	p.V392=	ENST00000231021	NM_016279.3	392	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3893.1	1176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTACTTC	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,synonymous_variant,p.%3D,ENST00000231021,;CDH9,downstream_gene_variant,,ENST00000505045,;	1349	63	66	SUCCESS
CAST	831	.	GRCh37	5	96031603	96031603	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	135	385	0	ENST00000341926.3:c.-48G>A		p.*16*	ENST00000341926		68		0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS54882.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGGCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10077,hmmpanther:PTHR10077:SF0	.	.	ENSP00000379157	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000395812	Transcript	.	.	ENSG00000153113	1515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.392)	.	tolerated(0.12)	.	ICAL_HUMAN	CAST	HGNC	E7EQ12_HUMAN	.	UPI0000DA4C59	SNV	CAST,missense_variant,p.Ala53Thr,ENST00000508608,;CAST,missense_variant,p.Ala68Thr,ENST00000395813,;CAST,missense_variant,p.Ala68Thr,ENST00000421689,;CAST,missense_variant,p.Ala53Thr,ENST00000506811,;CAST,missense_variant,p.Ala51Thr,ENST00000512620,;CAST,missense_variant,p.Ala68Thr,ENST00000508830,;CAST,missense_variant,p.Ala63Thr,ENST00000505143,;CAST,missense_variant,p.Ala68Thr,ENST00000325674,;CAST,missense_variant,p.Ala53Thr,ENST00000514845,;CAST,missense_variant,p.Ala68Thr,ENST00000510756,;CAST,missense_variant,p.Ala68Thr,ENST00000511097,;CAST,missense_variant,p.Ala68Thr,ENST00000359176,;CAST,missense_variant,p.Ala68Thr,ENST00000395812,;CAST,missense_variant,p.Ala53Thr,ENST00000514055,;CAST,5_prime_UTR_variant,,ENST00000341926,;CAST,5_prime_UTR_variant,,ENST00000338252,;AC020900.2,downstream_gene_variant,,ENST00000580431,;CAST,non_coding_transcript_exon_variant,,ENST00000505402,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;	388	385	300	SUCCESS
SYCP2L	221711	.	GRCh37	6	10924796	10924796	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	25	80	0	ENST00000283141.6:c.1140C>A	p.Val380=	p.V380=	ENST00000283141	NM_001040274.2	380	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43423.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTCATGAA	NONE	.	.	hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607	.	.	ENSP00000283141	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000283141	Transcript	.	.	ENSG00000153157	21537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYC2L_HUMAN	SYCP2L	HGNC	.	.	UPI000022CA18	SNV	SYCP2L,synonymous_variant,p.%3D,ENST00000543878,;SYCP2L,synonymous_variant,p.%3D,ENST00000283141,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,3_prime_UTR_variant,,ENST00000341041,;SYCP2L,3_prime_UTR_variant,,ENST00000487561,;	1436	80	137	SUCCESS
MLN	4295	.	GRCh37	6	33766966	33766966	+	synonymous_variant	Silent	SNP	G	G	T	rs188344611	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	36	114	0	ENST00000430124.2:c.150C>A	p.Ser50=	p.S50=	ENST00000430124	NM_001040109.1	50	tcC/tcA	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS4786.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGATTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR14156:SF0,hmmpanther:PTHR14156,Pfam_domain:PF04644	A:0.001	.	ENSP00000388825	A:0	3/5	.	.	.	.	.	.	.	.	rs188344611	3/5	PASS	ENST00000430124	Transcript	.	A:0.0002	ENSG00000096395	7141	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MOTI_HUMAN	MLN	HGNC	.	.	UPI000012F3E4	SNV	MLN,synonymous_variant,p.%3D,ENST00000430124,;MLN,synonymous_variant,p.%3D,ENST00000507738,;MLN,synonymous_variant,p.%3D,ENST00000266003,;	216	114	174	SUCCESS
STK38	11329	.	GRCh37	6	36485547	36485547	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773885454	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	46	96	0	ENST00000229812.7:c.461A>G	p.Tyr154Cys	p.Y154C	ENST00000229812	NM_007271.2	154	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4822.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTATAGAAC	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24358:SF7,hmmpanther:PTHR24358,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000229812	.	6/14	.	.	.	.	.	.	.	.	rs773885454	6/14	PASS	ENST00000229812	Transcript	.	.	ENSG00000112079	17847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.18)	.	STK38_HUMAN	STK38	HGNC	.	.	UPI0000047AC1	SNV	STK38,missense_variant,p.Tyr154Cys,ENST00000229812,;RN7SL748P,upstream_gene_variant,,ENST00000483066,;	747	96	197	SUCCESS
TREML4	285852	.	GRCh37	6	41196780	41196780	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	48	0	ENST00000341495.2:c.392C>A	p.Pro131Gln	p.P131Q	ENST00000341495	NM_198153.2	131	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS34446.1	392	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCAGGTG	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR16423:SF1,hmmpanther:PTHR16423	.	.	ENSP00000342570	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000341495	Transcript	.	.	ENSG00000188056	30807	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TRML4_HUMAN	TREML4	HGNC	.	.	UPI00001D696F	SNV	TREML4,missense_variant,p.Pro131Gln,ENST00000448827,;TREML4,missense_variant,p.Pro131Gln,ENST00000341495,;TREML4,missense_variant,p.Pro30Gln,ENST00000461240,;	496	48	111	SUCCESS
ABCC10	89845	.	GRCh37	6	43417802	43417802	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	217	53	170	0	ENST00000372530.4:c.4452A>C	p.Gly1484=	p.G1484=	ENST00000372530	NM_001198934.1	1484	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS56430.1	4452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGAGTCCC	NONE	.	.	hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223	.	.	ENSP00000361608	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,synonymous_variant,p.%3D,ENST00000244533,;ABCC10,synonymous_variant,p.%3D,ENST00000372530,;ABCC10,synonymous_variant,p.%3D,ENST00000505344,;DLK2,downstream_gene_variant,,ENST00000372488,;DLK2,downstream_gene_variant,,ENST00000430324,;DLK2,downstream_gene_variant,,ENST00000414245,;DLK2,downstream_gene_variant,,ENST00000372485,;DLK2,downstream_gene_variant,,ENST00000357338,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,downstream_gene_variant,,ENST00000372512,;ABCC10,downstream_gene_variant,,ENST00000437104,;	4667	170	270	SUCCESS
RELN	5649	.	GRCh37	7	103191647	103191647	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764185528	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	62	0	ENST00000428762.1:c.6169C>A	p.Leu2057Ile	p.L2057I	ENST00000428762	NM_005045.3	2057	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS47680.1	6169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11841,Gene3D:2.130.10.140,Superfamily_domains:SSF50939	.	.	ENSP00000392423	.	41/65	.	.	.	.	.	.	.	.	rs764185528	41/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.26)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Leu2057Ile,ENST00000424685,;RELN,missense_variant,p.Leu2057Ile,ENST00000428762,;RELN,missense_variant,p.Leu2057Ile,ENST00000343529,;	6329	62	50	SUCCESS
PRKAR2B	5577	.	GRCh37	7	106781380	106781380	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	51	180	0	ENST00000265717.4:c.569A>G	p.Asn190Ser	p.N190S	ENST00000265717	NM_002736.2	190	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS5740.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAACTTTT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121,PROSITE_patterns:PS00888,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000548,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000265717	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000265717	Transcript	.	.	ENSG00000005249	9392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	KAP3_HUMAN	PRKAR2B	HGNC	Q75MP1_HUMAN,O60380_HUMAN,A3R6R8_HUMAN	.	UPI000013D669	SNV	PRKAR2B,missense_variant,p.Asn190Ser,ENST00000265717,;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000488792,;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000393613,;	828	180	134	SUCCESS
GRM8	2918	.	GRCh37	7	126542720	126542720	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	47	96	0	ENST00000339582.2:c.1032C>G	p.Tyr344Ter	p.Y344*	ENST00000339582		344	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS5794.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAGTATCG	BUFFER|p.R348Q|c.1043G>A|3,BUFFER|p.R348Q|c.1043G>A|3	.	.	hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000344173	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,stop_gained,p.Tyr344Ter,ENST00000339582,;GRM8,stop_gained,p.Tyr344Ter,ENST00000444921,;GRM8,stop_gained,p.Tyr344Ter,ENST00000358373,;GRM8,stop_gained,p.Tyr344Ter,ENST00000405249,;GRM8,downstream_gene_variant,,ENST00000457830,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,stop_gained,p.Tyr344Ter,ENST00000341617,;GRM8,stop_gained,p.Tyr344Ter,ENST00000472701,;	1841	96	89	SUCCESS
TAS2R41	259287	.	GRCh37	7	143175007	143175007	+	synonymous_variant	Silent	SNP	C	C	T	rs1427173075	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	126	0	ENST00000408916.1:c.42C>T	p.Ser14=	p.S14=	ENST00000408916	NM_176883.2	14	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43663.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGCCTGCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000386201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408916	Transcript	.	.	ENSG00000221855	18883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R41_HUMAN	TAS2R41	HGNC	.	.	UPI000000D823	SNV	TAS2R41,synonymous_variant,p.%3D,ENST00000408916,;EPHA1-AS1,intron_variant,,ENST00000429289,;	42	127	103	SUCCESS
AMPH	273	.	GRCh37	7	38505102	38505102	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs146457438	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	44	114	0	ENST00000356264.2:c.714C>G	p.His238Gln	p.H238Q	ENST00000356264	NM_001635.3	238	caC/caG	0	A:0.0005	A:0	.	A:0	.	C	H/Q	protein_coding	YES	CCDS5456.1	714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCGTGCTG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,Prints_domain:PR01252	A:0	A:0.0013	ENSP00000348602	A:0.002	9/21	.	.	.	.	.	.	.	.	rs146457438,COSM746961,COSM187262	9/21	PASS	ENST00000356264	Transcript	.	A:0.0004	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.979)	A:0	tolerated(0.08)	0,1,1	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.His238Gln,ENST00000356264,;AMPH,missense_variant,p.His238Gln,ENST00000428293,;AMPH,missense_variant,p.His238Gln,ENST00000325590,;AMPH,upstream_gene_variant,,ENST00000441628,;	930	114	95	SUCCESS
VSTM2A	222008	.	GRCh37	7	54621590	54621590	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	53	166	0	ENST00000407838.3:c.634+3727T>A		p.*212*	ENST00000407838	NM_182546.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5512.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTCCACA	NONE	.	.	.	.	.	ENSP00000384967	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,missense_variant,p.Leu222His,ENST00000404951,;VSTM2A,intron_variant,,ENST00000402613,;VSTM2A,intron_variant,,ENST00000407838,;VSTM2A,downstream_gene_variant,,ENST00000402026,;VSTM2A,downstream_gene_variant,,ENST00000302287,;GS1-18A18.1,upstream_gene_variant,,ENST00000456049,;VSTM2A,intron_variant,,ENST00000466888,;VSTM2A,intron_variant,,ENST00000498834,;VSTM2A,downstream_gene_variant,,ENST00000469952,;	.	166	136	SUCCESS
RFC2	5982	.	GRCh37	7	73657534	73657534	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	39	97	0	ENST00000055077.3:c.477A>C	p.Glu159Asp	p.E159D	ENST00000055077	NM_001278792.1	159	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS5568.1	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATTTCCAT	NONE	.	.	hmmpanther:PTHR11669:SF5,hmmpanther:PTHR11669,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000055077	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000055077	Transcript	.	.	ENSG00000049541	9970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.816)	.	deleterious(0)	.	RFC2_HUMAN	RFC2	HGNC	F8WDC9_HUMAN	.	UPI000012516A	SNV	RFC2,missense_variant,p.Glu159Asp,ENST00000055077,;RFC2,missense_variant,p.Glu125Asp,ENST00000352131,;RFC2,missense_variant,p.Glu15Asp,ENST00000497430,;RFC2,missense_variant,p.Asn85His,ENST00000494019,;RFC2,3_prime_UTR_variant,,ENST00000479105,;RFC2,3_prime_UTR_variant,,ENST00000491206,;RFC2,3_prime_UTR_variant,,ENST00000470266,;RFC2,3_prime_UTR_variant,,ENST00000463194,;RFC2,3_prime_UTR_variant,,ENST00000480432,;RFC2,3_prime_UTR_variant,,ENST00000493156,;RFC2,upstream_gene_variant,,ENST00000485545,;RFC2,downstream_gene_variant,,ENST00000473493,;	538	97	79	SUCCESS
SEMA3E	9723	.	GRCh37	7	82996922	82996922	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs368305214	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	64	246	0	ENST00000307792.3:c.2308A>T	p.Arg770Trp	p.R770W	ENST00000307792	NM_012431.2	770	Agg/Tgg	0	C:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS34674.1	2308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGGGCA	NONE	byCluster	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22	.	C:0.0001	ENSP00000303212	.	17/17	.	.	.	.	.	.	.	.	rs368305214	17/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Arg710Trp,ENST00000427262,;SEMA3E,missense_variant,p.Arg770Trp,ENST00000307792,;	2776	246	174	SUCCESS
TG	7038	.	GRCh37	8	133995633	133995633	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	40	129	1	ENST00000220616.4:c.6238G>T	p.Val2080Phe	p.V2080F	ENST00000220616	NM_003235.4	2080	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS34944.1	6238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTGTTCTG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	35/48	.	.	.	.	.	.	.	.	.	35/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	tolerated(0.06)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Val2080Phe,ENST00000220616,;TG,missense_variant,p.Val450Phe,ENST00000542445,;TG,missense_variant,p.Val2023Phe,ENST00000377869,;TG,missense_variant,p.Val536Phe,ENST00000519178,;TG,intron_variant,,ENST00000519543,;TG,non_coding_transcript_exon_variant,,ENST00000519294,;TG,non_coding_transcript_exon_variant,,ENST00000522523,;TG,non_coding_transcript_exon_variant,,ENST00000524151,;TG,non_coding_transcript_exon_variant,,ENST00000520197,;TG,missense_variant,p.Val51Phe,ENST00000522797,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000520089,;	6278	130	93	SUCCESS
EPPK1	83481	.	GRCh37	8	144942786	144942786	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs191532254	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	51	0	ENST00000525985.1:c.4636G>A	p.Glu1546Lys	p.E1546K	ENST00000525985	NM_031308.2	1546	Gag/Aag	0	.	T:0.0008	.	T:0	.	T	E/K	protein_coding	YES	.	4636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCGTCCA	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF75399,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	T:0	.	ENSP00000436337	T:0	2/2	.	.	.	.	.	.	.	.	rs191532254	2/2	PASS	ENST00000525985	Transcript	.	T:0.0006	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	T:0.002	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.Glu1546Lys,ENST00000525985,;	4708	51	47	SUCCESS
CHMP7	91782	.	GRCh37	8	23104313	23104313	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	58	164	0	ENST00000313219.7:c.105C>G	p.Phe35Leu	p.F35L	ENST00000313219		35	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS6040.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCTCCGC	NONE	.	.	hmmpanther:PTHR22761:SF6,hmmpanther:PTHR22761	.	.	ENSP00000380794	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000397677	Transcript	.	.	ENSG00000147457	28439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	deleterious(0.01)	.	CHMP7_HUMAN	CHMP7	HGNC	E5RJI3_HUMAN,B3KRZ9_HUMAN,B3KMN6_HUMAN	.	UPI0000049FB7	SNV	CHMP7,missense_variant,p.Phe35Leu,ENST00000397677,;CHMP7,missense_variant,p.Phe35Leu,ENST00000519984,;CHMP7,missense_variant,p.Phe35Leu,ENST00000313219,;CHMP7,missense_variant,p.Phe35Leu,ENST00000517325,;CHMP7,missense_variant,p.Phe35Leu,ENST00000519414,;CHMP7,missense_variant,p.Phe35Leu,ENST00000519503,;CHMP7,non_coding_transcript_exon_variant,,ENST00000519529,;	753	164	159	SUCCESS
CLVS1	157807	.	GRCh37	8	62212267	62212267	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	30	0	ENST00000325897.4:c.-120G>A		p.*40*	ENST00000325897	NM_173519.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6176.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTTTTGGATGA	NONE	.	.	.	.	.	ENSP00000428402	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000519846	Transcript	.	.	ENSG00000177182	23139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLVS1_HUMAN	CLVS1	HGNC	G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN	.	UPI000007472D	SNV	CLVS1,5_prime_UTR_variant,,ENST00000519846,;CLVS1,5_prime_UTR_variant,,ENST00000325897,;CLVS1,5_prime_UTR_variant,,ENST00000522621,;CLVS1,intron_variant,,ENST00000518592,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;RP11-787D18.1,downstream_gene_variant,,ENST00000518064,;CLVS1,3_prime_UTR_variant,,ENST00000523868,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;	353	30	24	SUCCESS
FOXD4	2298	.	GRCh37	9	116958	116958	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770157390	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	345	97	495	1	ENST00000382500.2:c.1162C>T	p.His388Tyr	p.H388Y	ENST00000382500	NM_207305.4	388	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS34975.1	1162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGCCCGC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000371940	.	1/1	.	.	.	.	.	.	.	.	rs770157390	1/1	PASS	ENST00000382500	Transcript	.	.	ENSG00000170122	3805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	deleterious(0)	.	FOXD4_HUMAN	FOXD4	HGNC	.	.	UPI00001AFF18	SNV	FOXD4,missense_variant,p.His388Tyr,ENST00000382500,;CBWD1,downstream_gene_variant,,ENST00000382447,;CBWD1,downstream_gene_variant,,ENST00000314367,;CBWD1,downstream_gene_variant,,ENST00000377400,;CBWD1,downstream_gene_variant,,ENST00000356521,;RP11-143M1.4,upstream_gene_variant,,ENST00000416242,;CBWD1,downstream_gene_variant,,ENST00000465014,;CBWD1,downstream_gene_variant,,ENST00000475990,;CBWD1,downstream_gene_variant,,ENST00000487575,;CBWD1,downstream_gene_variant,,ENST00000464198,;CBWD1,downstream_gene_variant,,ENST00000462513,;CBWD1,downstream_gene_variant,,ENST00000495302,;	1460	496	442	SUCCESS
TTC16	158248	.	GRCh37	9	130485486	130485486	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	66	0	ENST00000373289.3:c.746C>T	p.Ala249Val	p.A249V	ENST00000373289	NM_144965.1	249	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6875.1	746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCCCAGG	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23083:SF395,hmmpanther:PTHR23083,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000362386	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000373289	Transcript	.	.	ENSG00000167094	26536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.15)	.	TTC16_HUMAN	TTC16	HGNC	.	.	UPI000006FE14	SNV	TTC16,missense_variant,p.Ala249Val,ENST00000373289,;TTC16,missense_variant,p.Ala73Val,ENST00000393748,;PTRH1,intron_variant,,ENST00000419060,;TTC16,non_coding_transcript_exon_variant,,ENST00000488285,;TTC16,non_coding_transcript_exon_variant,,ENST00000489226,;PTRH1,intron_variant,,ENST00000429848,;	826	66	52	SUCCESS
PRRC2B	84726	.	GRCh37	9	134357925	134357925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	57	157	1	ENST00000357304.4:c.5151G>T	p.Gln1717His	p.Q1717H	ENST00000357304	NM_013318.3	1717	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS48044.1	5151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGGCTCC	NONE	.	.	hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	.	.	ENSP00000349856	.	20/31	.	.	.	.	.	.	.	.	.	20/31	PASS	ENST00000357304	Transcript	.	.	ENSG00000130723	28121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	tolerated(0.18)	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,missense_variant,p.Gln450His,ENST00000451855,;PRRC2B,missense_variant,p.Gln1023His,ENST00000458550,;PRRC2B,missense_variant,p.Gln1717His,ENST00000357304,;PRRC2B,missense_variant,p.Gln1023His,ENST00000405995,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,upstream_gene_variant,,ENST00000320547,;SNORD62A,upstream_gene_variant,,ENST00000428514,;	5206	158	126	SUCCESS
NOTCH1	4851	.	GRCh37	9	139390565	139390565	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	93	0	ENST00000277541.6:c.7626C>G	p.Ser2542Arg	p.S2542R	ENST00000277541	NM_017617.3	2542	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS43905.1	7626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGCTGGT	NONE	.	.	hmmpanther:PTHR24033:SF37,hmmpanther:PTHR24033,PIRSF_domain:PIRSF002279	.	.	ENSP00000277541	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0.02)	.	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	SNV	NOTCH1,missense_variant,p.Ser2542Arg,ENST00000277541,;	7702	93	57	SUCCESS
SNHG7	84973	.	GRCh37	9	139617334	139617334	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	15	0	ENST00000414282.1:n.841C>A		p.*281*	ENST00000414282				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7004.1	.	MUTECT|MUSE	.	CGCCAGGAGGA	NONE	.	.	.	.	.	ENSP00000360757	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371692	Transcript	.	.	ENSG00000165716	28290	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA69B_HUMAN	FAM69B	HGNC	.	.	UPI000013E4F3	SNV	FAM69B,intron_variant,,ENST00000371691,;FAM69B,intron_variant,,ENST00000371692,;SNHG7,downstream_gene_variant,,ENST00000391185,;SNHG7,downstream_gene_variant,,ENST00000362567,;SNHG7,non_coding_transcript_exon_variant,,ENST00000414282,;SNHG7,downstream_gene_variant,,ENST00000416970,;SNHG7,downstream_gene_variant,,ENST00000447221,;SNHG7,downstream_gene_variant,,ENST00000436596,;	.	15	9	SUCCESS
FAM205A	259308	.	GRCh37	9	34723999	34723999	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	24	0	ENST00000378788.3:c.3238G>T	p.Glu1080Ter	p.E1080*	ENST00000378788	NM_001141917.1	1080	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS55305.1	3238	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTCTTCAGCAG	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,stop_gained,p.Glu1080Ter,ENST00000378788,;	3278	24	22	SUCCESS
FAM205B	0	.	GRCh37	9	34833061	34833061	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	59	0	ENST00000399773.6:n.3240G>T		p.*1080*	ENST00000399773				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|VARSCANS	.	GTCTTCAGCAG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	3240	59	64	SUCCESS
INSL4	3641	.	GRCh37	9	5233727	5233727	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	108	0	ENST00000239316.4:c.270A>G	p.Ser90=	p.S90=	ENST00000239316	NM_002195.1	90	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6459.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCACCAGA	NONE	.	.	hmmpanther:PTHR12004:SF3,hmmpanther:PTHR12004,Prints_domain:PR02004	.	.	ENSP00000239316	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239316	Transcript	.	.	ENSG00000120211	6087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSL4_HUMAN	INSL4	HGNC	.	.	UPI0000032F5A	SNV	INSL4,synonymous_variant,p.%3D,ENST00000239316,;	375	108	83	SUCCESS
CXorf56	0	.	GRCh37	X	118675326	118675326	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	34	0	ENST00000371594.4:c.571C>T	p.Arg191Cys	p.R191C	ENST00000371594	NM_022101.3	191	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS14579.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCGCTCCA	NONE	.	.	hmmpanther:PTHR13420:SF2,hmmpanther:PTHR13420	.	.	ENSP00000360652	.	6/7	.	.	.	.	.	.	.	.	COSM610767	6/7	PASS	ENST00000371594	Transcript	.	.	ENSG00000018610	26239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.935)	.	deleterious(0)	1	CX056_HUMAN	CXorf56	HGNC	.	.	UPI0000073C83	SNV	CXorf56,missense_variant,p.Arg177Cys,ENST00000536133,;CXorf56,missense_variant,p.Arg142Cys,ENST00000320339,;CXorf56,missense_variant,p.Arg191Cys,ENST00000371594,;CXorf56,non_coding_transcript_exon_variant,,ENST00000469448,;	650	34	35	SUCCESS
ENOX2	10495	.	GRCh37	X	129768966	129768966	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767185454	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	172	0	ENST00000338144.3:c.1498A>G	p.Lys500Glu	p.K500E	ENST00000338144	NM_182314.1	500	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14626.1	1498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTAAGAT	NONE	byFrequency	.	hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF7,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000337146	.	13/16	.	.	.	.	.	.	.	.	rs767185454	13/16	PASS	ENST00000338144	Transcript	.	.	ENSG00000165675	2259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.13)	.	ENOX2_HUMAN	ENOX2	HGNC	B1AKF7_HUMAN	.	UPI00000729D5	SNV	ENOX2,missense_variant,p.Lys500Glu,ENST00000370927,;ENOX2,missense_variant,p.Lys500Glu,ENST00000338144,;ENOX2,missense_variant,p.Lys471Glu,ENST00000394363,;ENOX2,missense_variant,p.Lys471Glu,ENST00000370935,;	1916	172	114	SUCCESS
SCML2	10389	.	GRCh37	X	18276345	18276345	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	129	397	0	ENST00000251900.4:c.1092T>C	p.His364=	p.H364=	ENST00000251900	NM_006089.2	364	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS14185.1	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATGTTT	NONE	.	.	hmmpanther:PTHR12247:SF76,hmmpanther:PTHR12247,Pfam_domain:PF12140	.	.	ENSP00000251900	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000251900	Transcript	.	.	ENSG00000102098	10581	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCML2_HUMAN	SCML2	HGNC	.	.	UPI0000071E54	SNV	SCML2,synonymous_variant,p.%3D,ENST00000251900,;SCML2,synonymous_variant,p.%3D,ENST00000398048,;	1252	397	300	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20183141	20183141	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	137	428	0	ENST00000379565.3:c.1640A>G	p.Tyr547Cys	p.Y547C	ENST00000379565	NM_004586.2	547	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14197.1	1640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATAAAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Tyr517Cys,ENST00000379548,;RPS6KA3,missense_variant,p.Tyr547Cys,ENST00000379565,;RPS6KA3,missense_variant,p.Tyr518Cys,ENST00000540702,;RPS6KA3,missense_variant,p.Tyr519Cys,ENST00000544447,;RPS6KA3,intron_variant,,ENST00000479809,;	1848	428	327	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20213230	20213230	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	55	189	0	ENST00000379565.3:c.359A>G	p.Asp120Gly	p.D120G	ENST00000379565	NM_004586.2	120	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS14197.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATATCACGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.09)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Asp91Gly,ENST00000379548,;RPS6KA3,missense_variant,p.Asp120Gly,ENST00000379565,;RPS6KA3,missense_variant,p.Asp92Gly,ENST00000438357,;RPS6KA3,missense_variant,p.Asp92Gly,ENST00000540702,;RPS6KA3,missense_variant,p.Asp92Gly,ENST00000544447,;RPS6KA3,missense_variant,p.Asp91Gly,ENST00000457145,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;	567	189	155	SUCCESS
DMD	1756	.	GRCh37	X	32663083	32663083	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	58	155	0	ENST00000357033.4:c.1147G>A	p.Glu383Lys	p.E383K	ENST00000357033	NM_004007.2	383	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS14233.1	1147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTCATGAG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000354923	.	10/79	.	.	.	.	.	.	.	.	COSM1145721,COSM612556,COSM612557	10/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.828)	.	.	1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Glu383Lys,ENST00000357033,;DMD,missense_variant,p.Glu379Lys,ENST00000378677,;DMD,missense_variant,p.Glu375Lys,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000447523,;MIR548F5,upstream_gene_variant,,ENST00000408421,;DMD,intron_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	1354	155	126	SUCCESS
TSPYL2	64061	.	GRCh37	X	53112279	53112279	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782374761	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	115	352	1	ENST00000375442.4:c.599T>C	p.Val200Ala	p.V200A	ENST00000375442	NM_022117.3	200	gTg/gCg	0	.	G:0.0008	.	G:0.0058	.	C	V/A	protein_coding	YES	CCDS14350.1	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGTGAAGA	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF31	G:0.0079	.	ENSP00000364591	G:0.002	1/7	.	.	.	.	.	.	.	.	rs782374761,COSM457714	1/7	PASS	ENST00000375442	Transcript	.	G:0.0045	ENSG00000184205	24358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	G:0.002	tolerated(0.19)	0,1	TSYL2_HUMAN	TSPYL2	HGNC	.	.	UPI000004B6D6	SNV	TSPYL2,missense_variant,p.Val200Ala,ENST00000375442,;TSPYL2,intron_variant,,ENST00000579390,;GPR173,downstream_gene_variant,,ENST00000332582,;TSPYL2,missense_variant,p.Val36Ala,ENST00000578306,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000553557,;TSPYL2,upstream_gene_variant,,ENST00000463525,;TSPYL2,upstream_gene_variant,,ENST00000556808,;	731	353	294	SUCCESS
HUWE1	10075	.	GRCh37	X	53579727	53579727	+	synonymous_variant	Silent	SNP	A	A	T	rs782341451	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	9	248	0	ENST00000262854.6:c.8622T>A	p.Thr2874=	p.T2874=	ENST00000262854	NM_031407.5	2874	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS35301.1	8622	MUTECT|MUSE	.	GCTGAAGTGTC	NONE	byFrequency	.	hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	61/83	.	.	.	.	.	.	.	.	rs782341451	61/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,synonymous_variant,p.%3D,ENST00000342160,;HUWE1,synonymous_variant,p.%3D,ENST00000427052,;HUWE1,synonymous_variant,p.%3D,ENST00000262854,;HUWE1,upstream_gene_variant,,ENST00000426907,;MIR98,downstream_gene_variant,,ENST00000606724,;MIRLET7F2,downstream_gene_variant,,ENST00000385277,;HUWE1,upstream_gene_variant,,ENST00000468322,;HUWE1,upstream_gene_variant,,ENST00000474288,;	9080	248	194	SUCCESS
KAL1	0	.	GRCh37	X	8667788	8667788	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	408	223	810	0	ENST00000262648.3:c.208-2A>G		p.X70_splice	ENST00000262648	NM_000216.2	70		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTGCAAA	NONE	.	.	.	.	.	ENSP00000262648	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262648	Transcript	.	.	ENSG00000011201	6211	.	.	HIGH	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KALM_HUMAN	KAL1	HGNC	.	.	UPI00001AE843	SNV	KAL1,splice_acceptor_variant,,ENST00000262648,;	.	810	631	SUCCESS
TIAL1	7073	.	GRCh37	10	121338278	121338278	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	149	0	ENST00000436547.2:c.516G>A	p.Trp172Ter	p.W172*	ENST00000436547	NM_003252.3	172	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS31295.1	567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCAATT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF250,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000358089	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000369093	Transcript	.	.	ENSG00000151923	11804	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIAR_HUMAN	TIAL1	HGNC	.	.	UPI00004BEBE5	SNV	TIAL1,stop_gained,p.Trp172Ter,ENST00000436547,;TIAL1,stop_gained,p.Trp189Ter,ENST00000369093,;TIAL1,stop_gained,p.Trp49Ter,ENST00000369092,;TIAL1,downstream_gene_variant,,ENST00000412524,;TIAL1,downstream_gene_variant,,ENST00000369086,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470635,;TIAL1,non_coding_transcript_exon_variant,,ENST00000495821,;TIAL1,upstream_gene_variant,,ENST00000463089,;TIAL1,downstream_gene_variant,,ENST00000462373,;TIAL1,3_prime_UTR_variant,,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,non_coding_transcript_exon_variant,,ENST00000369087,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;	597	149	94	SUCCESS
EDRF1	26098	.	GRCh37	10	127412384	127412385	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1194762434	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	132	114	419	0	ENST00000356792.4:c.396dup	p.Leu133ThrfsTer26	p.L133Tfs*26	ENST00000356792	NM_001202438.1	130	ata/atAa	0	.	.	.	.	.	A	I/IX	protein_coding	YES	CCDS55733.1	389-390	INDELOCATOR|VARSCANI	.	GAACATAAAAA	NONE	.	.	hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000	.	.	ENSP00000349244	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000356792	Transcript	.	.	ENSG00000107938	24640	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EDRF1_HUMAN	EDRF1	HGNC	.	.	UPI00005CA2E3	insertion	EDRF1,frameshift_variant,p.Leu133ThrfsTer26,ENST00000356792,;EDRF1,frameshift_variant,p.Leu133ThrfsTer26,ENST00000337623,;RP11-383C5.4,upstream_gene_variant,,ENST00000527483,;RP11-383C5.4,upstream_gene_variant,,ENST00000528844,;RP11-383C5.4,upstream_gene_variant,,ENST00000525909,;RP11-383C5.4,upstream_gene_variant,,ENST00000423178,;RP11-383C5.4,upstream_gene_variant,,ENST00000531977,;RP11-383C5.5,upstream_gene_variant,,ENST00000430970,;EDRF1,frameshift_variant,p.Leu133ThrfsTer26,ENST00000368815,;EDRF1,frameshift_variant,p.Leu133ThrfsTer26,ENST00000481600,;EDRF1,frameshift_variant,p.Leu133ThrfsTer26,ENST00000419769,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;EDRF1,upstream_gene_variant,,ENST00000530795,;	621-622	419	247	SUCCESS
C10orf90	118611	.	GRCh37	10	128147623	128147623	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	23	57	0	ENST00000284694.7:c.1883C>A	p.Pro628His	p.P628H	ENST00000284694	NM_001004298.2	628	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS31310.1	1883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGGAATC	NONE	.	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553,Pfam_domain:PF15309	.	.	ENSP00000284694	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Pro628His,ENST00000432642,;C10orf90,missense_variant,p.Pro628His,ENST00000284694,;C10orf90,missense_variant,p.Pro531His,ENST00000454341,;C10orf90,missense_variant,p.Pro581His,ENST00000356858,;C10orf90,missense_variant,p.Pro32His,ENST00000480379,;C10orf90,missense_variant,p.Pro725His,ENST00000544758,;C10orf90,missense_variant,p.Pro171His,ENST00000424927,;	2004	57	40	SUCCESS
LYZL1	84569	.	GRCh37	10	29578015	29578015	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs375991849	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	122	0	ENST00000375500.3:c.-32C>T		p.*11*	ENST00000375500	NM_032517.4			0	T:0.0002	T:0.0015	.	T:0	.	T	.	protein_coding	YES	CCDS31174.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGCGCCTC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000364650	T:0	1/5	.	.	.	.	.	.	.	.	rs375991849	1/5	PASS	ENST00000375500	Transcript	.	T:0.0004	ENSG00000120563	30502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LYZL1_HUMAN	LYZL1	HGNC	H0YDZ2_HUMAN	.	UPI000013CA8C	SNV	LYZL1,5_prime_UTR_variant,,ENST00000375500,;LYZL1,upstream_gene_variant,,ENST00000494304,;	26	122	81	SUCCESS
RASSF4	83937	.	GRCh37	10	45486499	45486499	+	synonymous_variant	Silent	SNP	C	C	T	rs751576842	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	37	0	ENST00000340258.5:c.789C>T	p.Gly263=	p.G263=	ENST00000340258	NM_032023.3	263	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7208.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGCGTGGA	NONE	byFrequency	.	hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF4	.	.	ENSP00000339692	.	9/11	.	.	.	.	.	.	.	.	rs751576842	9/11	PASS	ENST00000340258	Transcript	.	.	ENSG00000107551	20793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF4_HUMAN	RASSF4	HGNC	.	.	UPI000006F93A	SNV	RASSF4,synonymous_variant,p.%3D,ENST00000334940,;RASSF4,synonymous_variant,p.%3D,ENST00000340258,;RASSF4,synonymous_variant,p.%3D,ENST00000484477,;RASSF4,3_prime_UTR_variant,,ENST00000374417,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471808,;RASSF4,non_coding_transcript_exon_variant,,ENST00000472561,;RASSF4,non_coding_transcript_exon_variant,,ENST00000465735,;RASSF4,non_coding_transcript_exon_variant,,ENST00000493490,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471941,;RASSF4,non_coding_transcript_exon_variant,,ENST00000489171,;RASSF4,downstream_gene_variant,,ENST00000483709,;	902	37	20	SUCCESS
NCOA4	8031	.	GRCh37	10	51584844	51584844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148951318	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	50	0	ENST00000452682.1:c.991C>T	p.Arg331Trp	p.R331W	ENST00000452682	NM_001145260.1	331	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS44394.1	991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCGGAAG	NONE	byCluster	.	hmmpanther:PTHR17085,hmmpanther:PTHR17085:SF2,Pfam_domain:PF12489	.	T:0.0002	ENSP00000395465	.	9/12	.	.	.	.	.	.	.	.	rs148951318	9/12	PASS	ENST00000452682	Transcript	1	.	ENSG00000138293	7671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0)	.	NCOA4_HUMAN	NCOA4	HGNC	.	.	UPI0001932817	SNV	NCOA4,missense_variant,p.Arg315Trp,ENST00000374082,;NCOA4,missense_variant,p.Arg215Trp,ENST00000430396,;NCOA4,missense_variant,p.Arg331Trp,ENST00000452682,;NCOA4,missense_variant,p.Arg149Trp,ENST00000414907,;NCOA4,missense_variant,p.Arg315Trp,ENST00000344348,;NCOA4,missense_variant,p.Arg315Trp,ENST00000443446,;NCOA4,missense_variant,p.Arg231Trp,ENST00000431200,;NCOA4,missense_variant,p.Arg315Trp,ENST00000374087,;NCOA4,missense_variant,p.Arg331Trp,ENST00000438493,;NCOA4,downstream_gene_variant,,ENST00000498586,;	1243	50	35	SUCCESS
CDH23	64072	.	GRCh37	10	73501563	73501563	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771464282	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	108	0	ENST00000224721.6:c.4745G>T	p.Arg1582Leu	p.R1582L	ENST00000224721	NM_022124.5	1582	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	.	.	4745	MUTECT|MUSE	.	CTTCCGCATGG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000224721	.	37/69	.	.	.	.	.	.	.	.	rs771464282	37/69	PASS	ENST00000224721	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.906)	.	deleterious(0.01)	.	.	CDH23	HGNC	.	.	UPI0002B831D5	SNV	CDH23,missense_variant,p.Arg1582Leu,ENST00000224721,;C10orf105,upstream_gene_variant,,ENST00000398786,;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;	4750	108	65	SUCCESS
ANXA11	311	.	GRCh37	10	81926706	81926706	+	synonymous_variant	Silent	SNP	C	C	G	rs561842051	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	37	0	ENST00000372231.3:c.684G>C	p.Gly228=	p.G228=	ENST00000372231		228	ggG/ggC	0	.	T:0	.	T:0.0014	.	G	G	protein_coding	YES	CCDS7364.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTCCCCAG	NONE	by1000G	.	Prints_domain:PR00196,Superfamily_domains:SSF47874,SMART_domains:SM00335,Pfam_domain:PF00191,Gene3D:1.10.220.10,PROSITE_patterns:PS00223,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF29	T:0	.	ENSP00000398610	T:0	8/17	.	.	.	.	.	.	.	.	rs561842051	8/17	PASS	ENST00000438331	Transcript	.	T:0.0002	ENSG00000122359	535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ANX11_HUMAN	ANXA11	HGNC	Q5T0G9_HUMAN,Q5T0G8_HUMAN,Q5T0G7_HUMAN,B4DVE7_HUMAN	.	UPI0000125B8D	SNV	ANXA11,synonymous_variant,p.%3D,ENST00000537102,;ANXA11,synonymous_variant,p.%3D,ENST00000438331,;ANXA11,synonymous_variant,p.%3D,ENST00000535999,;ANXA11,synonymous_variant,p.%3D,ENST00000265447,;ANXA11,synonymous_variant,p.%3D,ENST00000360615,;ANXA11,synonymous_variant,p.%3D,ENST00000422982,;ANXA11,synonymous_variant,p.%3D,ENST00000372231,;ANXA11,downstream_gene_variant,,ENST00000437799,;ANXA11,upstream_gene_variant,,ENST00000447489,;ANXA11,non_coding_transcript_exon_variant,,ENST00000481805,;	1167	37	18	SUCCESS
OR51I1	390063	.	GRCh37	11	5462670	5462670	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	95	0	ENST00000380211.1:c.75C>A	p.Gly25=	p.G25=	ENST00000380211	NM_001005288.2	25	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31382.1	75	MUTECT|MUSE	.	GTGAGGCCTGT	NONE	.	.	hmmpanther:PTHR26450:SF66,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369559	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380211	Transcript	.	.	ENSG00000167359	15200	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O51I1_HUMAN	OR51I1	HGNC	.	.	UPI0000041CD0	SNV	OR51I1,synonymous_variant,p.%3D,ENST00000380211,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	75	95	46	SUCCESS
MRGPRD	116512	.	GRCh37	11	68747517	68747517	+	synonymous_variant	Silent	SNP	G	G	A	rs762458441	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	29	61	0	ENST00000309106.3:c.939C>T	p.Thr313=	p.T313=	ENST00000309106	NM_198923.2	313	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31625.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGGTGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11334:SF29,hmmpanther:PTHR11334,Prints_domain:PR02110	.	.	ENSP00000310631	.	1/1	.	.	.	.	.	.	.	.	rs762458441	1/1	PASS	ENST00000309106	Transcript	.	.	ENSG00000172938	29626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRGRD_HUMAN	MRGPRD	HGNC	.	.	UPI000003BCCA	SNV	MRGPRD,synonymous_variant,p.%3D,ENST00000309106,;	939	61	36	SUCCESS
PRDM4	11108	.	GRCh37	12	108136024	108136024	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs937067633	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	111	0	ENST00000228437.5:c.1583A>G	p.Tyr528Cys	p.Y528C	ENST00000228437	NM_012406.3	528	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9115.1	1583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATAATAA	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF112,PIRSF_domain:PIRSF037161	.	.	ENSP00000228437	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000228437	Transcript	.	.	ENSG00000110851	9348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PRDM4_HUMAN	PRDM4	HGNC	F8VRG2_HUMAN	.	UPI000013217D	SNV	PRDM4,missense_variant,p.Tyr528Cys,ENST00000228437,;PRDM4,downstream_gene_variant,,ENST00000550659,;RP11-864J10.4,intron_variant,,ENST00000546714,;RP11-864J10.4,downstream_gene_variant,,ENST00000546829,;PRDM4,3_prime_UTR_variant,,ENST00000550376,;PRDM4,non_coding_transcript_exon_variant,,ENST00000549416,;	2043	111	65	SUCCESS
SDSL	113675	.	GRCh37	12	113874658	113874658	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	42	0	ENST00000345635.4:c.774G>C	p.Val258=	p.V258=	ENST00000345635	NM_138432.2	258	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS9170.1	774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGAGCGC	NONE	.	.	Superfamily_domains:SSF53686,Pfam_domain:PF00291,Gene3D:3.40.50.1100,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF46	.	.	ENSP00000385790	.	7/8	.	.	.	.	.	.	.	.	COSM935442	7/8	PASS	ENST00000403593	Transcript	.	.	ENSG00000139410	30404	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SDSL_HUMAN	SDSL	HGNC	F8VZ97_HUMAN,F8VYZ3_HUMAN	.	UPI0000072263	SNV	SDSL,synonymous_variant,p.%3D,ENST00000551760,;SDSL,synonymous_variant,p.%3D,ENST00000546672,;SDSL,synonymous_variant,p.%3D,ENST00000345635,;SDSL,synonymous_variant,p.%3D,ENST00000403593,;SDSL,downstream_gene_variant,,ENST00000553248,;	1036	42	15	SUCCESS
DDX47	51202	.	GRCh37	12	12974235	12974235	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774303230	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	125	0	ENST00000358007.3:c.275G>A	p.Arg92His	p.R92H	ENST00000358007	NM_016355.3	92	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8655.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGTTTGT	NONE	byFrequency	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF78,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487	.	.	ENSP00000350698	.	3/12	.	.	.	.	.	.	.	.	rs774303230	3/12	PASS	ENST00000358007	Transcript	.	.	ENSG00000213782	18682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.09)	.	DDX47_HUMAN	DDX47	HGNC	Q7Z4B1_HUMAN,A4UCU0_HUMAN	.	UPI0000037B84	SNV	DDX47,missense_variant,p.Arg92His,ENST00000358007,;DDX47,missense_variant,p.Arg92His,ENST00000352940,;DDX47,intron_variant,,ENST00000544400,;DDX47,non_coding_transcript_exon_variant,,ENST00000542832,;DDX47,non_coding_transcript_exon_variant,,ENST00000392155,;APOLD1,3_prime_UTR_variant,,ENST00000534843,;DDX47,non_coding_transcript_exon_variant,,ENST00000426619,;DDX47,non_coding_transcript_exon_variant,,ENST00000541537,;DDX47,non_coding_transcript_exon_variant,,ENST00000544032,;DDX47,non_coding_transcript_exon_variant,,ENST00000545038,;DDX47,intron_variant,,ENST00000542123,;DDX47,upstream_gene_variant,,ENST00000535722,;	297	125	80	SUCCESS
OR6C74	254783	.	GRCh37	12	55641389	55641389	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	75	0	ENST00000343870.4:c.318G>T	p.Gly106=	p.G106=	ENST00000343870	NM_001005490.1	106	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31816.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGGCAAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342836	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343870	Transcript	.	.	ENSG00000197706	31303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O6C74_HUMAN	OR6C74	HGNC	.	.	UPI000016150B	SNV	OR6C74,synonymous_variant,p.%3D,ENST00000343870,;	408	75	54	SUCCESS
TSFM	10102	.	GRCh37	12	58186770	58186770	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	101	0	ENST00000454289.3:c.485G>T	p.Gly162Val	p.G162V	ENST00000454289	NM_005726.5	162	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS53809.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGGTTTCT	NONE	.	.	HAMAP:MF_00050,hmmpanther:PTHR11741,Pfam_domain:PF00889,Superfamily_domains:SSF54713	.	.	ENSP00000313877	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000323833	Transcript	.	.	ENSG00000123297	12367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.02)	.	EFTS_HUMAN	TSFM	HGNC	.	.	UPI000002A8C3	SNV	TSFM,missense_variant,p.Gly112Val,ENST00000457189,;TSFM,missense_variant,p.Gly112Val,ENST00000434359,;TSFM,missense_variant,p.Gly122Val,ENST00000350762,;TSFM,missense_variant,p.Gly162Val,ENST00000550559,;TSFM,missense_variant,p.Gly162Val,ENST00000543727,;TSFM,missense_variant,p.Gly183Val,ENST00000323833,;TSFM,missense_variant,p.Gly162Val,ENST00000454289,;TSFM,missense_variant,p.Gly162Val,ENST00000548851,;TSFM,intron_variant,,ENST00000540550,;AVIL,downstream_gene_variant,,ENST00000257861,;AVIL,downstream_gene_variant,,ENST00000537081,;TSFM,splice_region_variant,,ENST00000497617,;AVIL,downstream_gene_variant,,ENST00000551248,;AVIL,downstream_gene_variant,,ENST00000549851,;AVIL,downstream_gene_variant,,ENST00000546952,;	574	101	60	SUCCESS
BBS10	79738	.	GRCh37	12	76741192	76741192	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	171	0	ENST00000393262.3:c.573A>C	p.Ser191=	p.S191=	ENST00000393262	NM_024685.3	191	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9014.2	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGTGAAAT	NONE	.	.	hmmpanther:PTHR14667,Pfam_domain:PF00118	.	.	ENSP00000376946	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000393262	Transcript	.	.	ENSG00000179941	26291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS10_HUMAN	BBS10	HGNC	.	.	UPI0000D720FE	SNV	BBS10,synonymous_variant,p.%3D,ENST00000393262,;OSBPL8,downstream_gene_variant,,ENST00000261183,;OSBPL8,downstream_gene_variant,,ENST00000393249,;	657	171	102	SUCCESS
C12orf55	0	.	GRCh37	12	97051785	97051785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	136	0	ENST00000524981.4:c.5226G>T	p.Trp1742Cys	p.W1742C	ENST00000524981		1742	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	.	5226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGATCCA	NONE	.	.	.	.	.	ENSP00000431759	.	37/68	.	.	.	.	.	.	.	.	.	37/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Trp1742Cys,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	5249	136	81	SUCCESS
ATP12A	479	.	GRCh37	13	25283866	25283866	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	108	1	ENST00000381946.3:c.2663A>T	p.Tyr888Phe	p.Y888F	ENST00000381946		888	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS53858.1	2681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTATGCAC	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Superfamily_domains:0049473,Prints_domain:PR00121	.	.	ENSP00000218548	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.64)	.	tolerated(0.12)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Tyr894Phe,ENST00000218548,;ATP12A,missense_variant,p.Tyr888Phe,ENST00000381946,;RPL26P34,upstream_gene_variant,,ENST00000431005,;	3014	109	66	SUCCESS
PDS5B	23047	.	GRCh37	13	33232401	33232401	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	101	341	0	ENST00000315596.10:c.338A>T	p.Gln113Leu	p.Q113L	ENST00000315596	NM_015032.3	113	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41878.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACAGTTGA	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Superfamily_domains:SSF48371	.	.	ENSP00000313851	.	4/35	.	.	.	.	.	.	.	.	.	4/35	PASS	ENST00000315596	Transcript	.	.	ENSG00000083642	20418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.639)	.	deleterious(0)	.	PDS5B_HUMAN	PDS5B	HGNC	.	.	UPI000006D4A9	SNV	PDS5B,missense_variant,p.Gln113Leu,ENST00000315596,;PDS5B,missense_variant,p.Gln113Leu,ENST00000450460,;PDS5B,non_coding_transcript_exon_variant,,ENST00000482955,;PDS5B,non_coding_transcript_exon_variant,,ENST00000498550,;	524	341	226	SUCCESS
NPAS3	64067	.	GRCh37	14	34029335	34029335	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	31	243	0	ENST00000356141.4:c.477T>A	p.Asp159Glu	p.D159E	ENST00000356141		159	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS53891.1	477	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGGCTT	NONE	.	.	PROSITE_profiles:PS50112,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043,Pfam_domain:PF00989,Gene3D:3.30.450.20,SMART_domains:SM00091,Superfamily_domains:SSF55785	.	.	ENSP00000348460	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.03)	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,missense_variant,p.Asp129Glu,ENST00000548645,;NPAS3,missense_variant,p.Asp164Glu,ENST00000551492,;NPAS3,missense_variant,p.Asp146Glu,ENST00000357798,;NPAS3,missense_variant,p.Asp69Glu,ENST00000546849,;NPAS3,missense_variant,p.Asp159Glu,ENST00000356141,;NPAS3,missense_variant,p.Asp57Glu,ENST00000551008,;NPAS3,missense_variant,p.Asp55Glu,ENST00000547068,;NPAS3,missense_variant,p.Asp136Glu,ENST00000551634,;NPAS3,missense_variant,p.Asp127Glu,ENST00000346562,;NPAS3,missense_variant,p.Asp159Glu,ENST00000341321,;NPAS3,non_coding_transcript_exon_variant,,ENST00000549770,;NPAS3,upstream_gene_variant,,ENST00000552696,;	477	243	159	SUCCESS
OTX2	5015	.	GRCh37	14	57270981	57270981	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	118	0	ENST00000408990.3:c.174C>A	p.Ala58=	p.A58=	ENST00000408990		58	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9728.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTGGCAAA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF131,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000343819	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000339475	Transcript	.	.	ENSG00000165588	8522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTX2_HUMAN	OTX2	HGNC	G3V3P9_HUMAN,F1T0D1_HUMAN	.	UPI000000161B	SNV	OTX2,synonymous_variant,p.%3D,ENST00000554845,;OTX2,synonymous_variant,p.%3D,ENST00000339475,;OTX2,synonymous_variant,p.%3D,ENST00000408990,;OTX2,synonymous_variant,p.%3D,ENST00000555006,;OTX2,synonymous_variant,p.%3D,ENST00000555804,;OTX2,intron_variant,,ENST00000554559,;OTX2,intron_variant,,ENST00000554788,;RP11-1085N6.6,upstream_gene_variant,,ENST00000602485,;	475	118	57	SUCCESS
TRIP11	9321	.	GRCh37	14	92472196	92472197	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs747106242	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	107	0	ENST00000267622.4:c.2123dup	p.Asn708LysfsTer22	p.N708Kfs*22	ENST00000267622	NM_004239.3	708	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS9899.1	2123-2124	INDELOCATOR|VARSCANI	.	ATAGTGTTTTT	NONE	.	.	hmmpanther:PTHR18921:SF2,hmmpanther:PTHR18921	.	.	ENSP00000267622	.	11/21	.	.	.	.	.	.	.	.	rs780309004,COSM392071	11/21	PASS	ENST00000267622	Transcript	1	.	ENSG00000100815	12305	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	TRIPB_HUMAN	TRIP11	HGNC	G3V4R7_HUMAN	.	UPI000013D767	insertion	TRIP11,frameshift_variant,p.Asn424LysfsTer22,ENST00000554357,;TRIP11,frameshift_variant,p.Asn708LysfsTer22,ENST00000267622,;	2497-2498	107	58	SUCCESS
ITPK1	3705	.	GRCh37	14	93407963	93407963	+	synonymous_variant	Silent	SNP	C	C	G	rs759340795	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	53	0	ENST00000267615.6:c.1188G>C	p.Ser396=	p.S396=	ENST00000267615		396	tcG/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9907.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGACAC	NONE	byFrequency	.	hmmpanther:PTHR14217:SF1,hmmpanther:PTHR14217	.	.	ENSP00000267615	.	11/11	.	.	.	.	.	.	.	.	rs759340795	11/11	PASS	ENST00000267615	Transcript	.	.	ENSG00000100605	6177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITPK1_HUMAN	ITPK1	HGNC	G3V588_HUMAN,G3V4M9_HUMAN	.	UPI000006F88A	SNV	ITPK1,synonymous_variant,p.%3D,ENST00000267615,;ITPK1,synonymous_variant,p.%3D,ENST00000556603,;ITPK1,synonymous_variant,p.%3D,ENST00000555495,;ITPK1,intron_variant,,ENST00000354313,;ITPK1,downstream_gene_variant,,ENST00000553695,;ITPK1,downstream_gene_variant,,ENST00000556954,;	1362	53	38	SUCCESS
USP50	373509	.	GRCh37	15	50822035	50822035	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1397126811	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	169	0	ENST00000532404.1:c.895A>G	p.Ile299Val	p.I299V	ENST00000532404	NM_203494.4	299	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS53944.1	895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATTGAGC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF397,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000434676	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000532404	Transcript	.	.	ENSG00000170236	20079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.57)	.	.	USP50	HGNC	E9PP86_HUMAN	.	UPI0001CB7F8F	SNV	USP50,missense_variant,p.Ile299Val,ENST00000532404,;USP50,non_coding_transcript_exon_variant,,ENST00000530218,;USP50,3_prime_UTR_variant,,ENST00000559105,;USP50,3_prime_UTR_variant,,ENST00000529349,;	1069	169	90	SUCCESS
CCDC102A	92922	.	GRCh37	16	57555012	57555012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	14	35	0	ENST00000258214.2:c.889C>A	p.Leu297Met	p.L297M	ENST00000258214	NM_033212.3	297	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS10784.1	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGCTCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF269	.	.	ENSP00000258214	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000258214	Transcript	.	.	ENSG00000135736	28097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	tolerated(0.07)	.	C102A_HUMAN	CCDC102A	HGNC	.	.	UPI000013CFBA	SNV	CCDC102A,missense_variant,p.Leu297Met,ENST00000258214,;CCDC102A,upstream_gene_variant,,ENST00000569068,;	1136	35	19	SUCCESS
KRT16P1	729252	.	GRCh37	17	18344856	18344856	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	21	0	ENST00000584962.1:n.951G>A		p.*317*	ENST00000584962				0	.	.	.	.	.	A	.	retained_intron	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GATGCGCAACC	NONE	.	.	.	.	.	.	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000584962	Transcript	.	.	ENSG00000214856	6420	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	KRT16P1	HGNC	.	.	.	SNV	KRT16P1,non_coding_transcript_exon_variant,,ENST00000581027,;KRT16P1,downstream_gene_variant,,ENST00000584135,;KRT16P1,downstream_gene_variant,,ENST00000581210,;KRT16P1,non_coding_transcript_exon_variant,,ENST00000584962,;KRT16P1,upstream_gene_variant,,ENST00000577750,;KRT16P1,non_coding_transcript_exon_variant,,ENST00000399124,;KRT16P1,downstream_gene_variant,,ENST00000411877,;	951	21	14	SUCCESS
HAP1	9001	.	GRCh37	17	39888530	39888530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	115	0	ENST00000310778.5:c.666G>A	p.Met222Ile	p.M222I	ENST00000310778		222	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS11406.1	666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCATCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15751:SF14,hmmpanther:PTHR15751,Pfam_domain:PF04849	.	.	ENSP00000334002	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000347901	Transcript	.	.	ENSG00000173805	4812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.05)	.	HAP1_HUMAN	HAP1	HGNC	.	.	UPI000024700D	SNV	HAP1,missense_variant,p.Met222Ile,ENST00000347901,;HAP1,missense_variant,p.Met222Ile,ENST00000393939,;HAP1,missense_variant,p.Met222Ile,ENST00000310778,;HAP1,missense_variant,p.Met230Ile,ENST00000341193,;JUP,intron_variant,,ENST00000540235,;RN7SL399P,upstream_gene_variant,,ENST00000471648,;	676	115	74	SUCCESS
GHDC	84514	.	GRCh37	17	40344403	40344403	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780648645	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	71	0	ENST00000301671.8:c.745C>T	p.Arg249Trp	p.R249W	ENST00000301671		249	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11422.1	745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGTGGCC	NONE	byFrequency	.	hmmpanther:PTHR31901,hmmpanther:PTHR31901:SF5,Pfam_domain:PF03321	.	.	ENSP00000301671	.	4/9	.	.	.	.	.	.	.	.	rs780648645	4/9	PASS	ENST00000301671	Transcript	.	.	ENSG00000167925	24438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	GHDC_HUMAN	GHDC	HGNC	K7EQ41_HUMAN,K7EL54_HUMAN	.	UPI000006E533	SNV	GHDC,missense_variant,p.Arg249Trp,ENST00000414034,;GHDC,missense_variant,p.Arg249Trp,ENST00000436923,;GHDC,missense_variant,p.Arg210Trp,ENST00000428494,;GHDC,missense_variant,p.Arg249Trp,ENST00000587427,;GHDC,missense_variant,p.Arg249Trp,ENST00000301671,;GHDC,missense_variant,p.Arg249Trp,ENST00000593209,;GHDC,downstream_gene_variant,,ENST00000590249,;GHDC,downstream_gene_variant,,ENST00000588352,;GHDC,downstream_gene_variant,,ENST00000590520,;GHDC,downstream_gene_variant,,ENST00000586692,;GHDC,upstream_gene_variant,,ENST00000585735,;GHDC,downstream_gene_variant,,ENST00000585375,;GHDC,downstream_gene_variant,,ENST00000588762,;	1187	71	38	SUCCESS
NTN1	9423	.	GRCh37	17	8926432	8926432	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	32	75	0	ENST00000173229.2:c.742C>T	p.Arg248Cys	p.R248C	ENST00000173229	NM_004822.2	248	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11148.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCGCGTG	NONE	.	.	PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF219,Pfam_domain:PF00055,SMART_domains:SM00136	.	.	ENSP00000173229	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000173229	Transcript	.	.	ENSG00000065320	8029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	NET1_HUMAN	NTN1	HGNC	.	.	UPI000013C5C7	SNV	NTN1,missense_variant,p.Arg248Cys,ENST00000546090,;NTN1,missense_variant,p.Arg248Cys,ENST00000538852,;NTN1,missense_variant,p.Arg248Cys,ENST00000173229,;	849	75	45	SUCCESS
SYDE1	85360	.	GRCh37	19	15220134	15220134	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	25	211	0	ENST00000342784.2:c.356A>G	p.Asp119Gly	p.D119G	ENST00000342784	NM_033025.4	119	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS12324.1	356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGACCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.601)	.	deleterious(0.02)	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,missense_variant,p.Asp52Gly,ENST00000600440,;SYDE1,missense_variant,p.Asp119Gly,ENST00000342784,;SYDE1,missense_variant,p.Asp119Gly,ENST00000597977,;SYDE1,5_prime_UTR_variant,,ENST00000600252,;SYDE1,upstream_gene_variant,,ENST00000602203,;	387	212	110	SUCCESS
UNC13A	23025	.	GRCh37	19	17752293	17752293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	124	0	ENST00000519716.2:c.2545G>T	p.Ala849Ser	p.A849S	ENST00000519716	NM_001080421.2	849	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46013.2	2545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCATCGT	NONE	.	.	hmmpanther:PTHR10480	.	.	ENSP00000429562	.	21/44	.	.	.	.	.	.	.	.	.	21/44	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.421)	.	tolerated(0.25)	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,missense_variant,p.Ala849Ser,ENST00000252773,;UNC13A,missense_variant,p.Ala849Ser,ENST00000519716,;UNC13A,missense_variant,p.Ala847Ser,ENST00000550896,;UNC13A,missense_variant,p.Ala849Ser,ENST00000552293,;UNC13A,missense_variant,p.Ala849Ser,ENST00000551649,;UNC13A,missense_variant,p.Ala937Ser,ENST00000428389,;	2545	124	71	SUCCESS
MAST3	23031	.	GRCh37	19	18232564	18232564	+	synonymous_variant	Silent	SNP	G	G	A	rs1386763932	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	64	0	ENST00000262811.6:c.141G>A	p.Ser47=	p.S47=	ENST00000262811	NM_015016.1	47	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46014.1	141	MUTECT|MUSE	.	CTGTCGCCATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24356:SF140,hmmpanther:PTHR24356	.	.	ENSP00000262811	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000262811	Transcript	.	.	ENSG00000099308	19036	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAST3_HUMAN	MAST3	HGNC	.	.	UPI00001D8275	SNV	MAST3,synonymous_variant,p.%3D,ENST00000262811,;MAST3,non_coding_transcript_exon_variant,,ENST00000608648,;MAST3,upstream_gene_variant,,ENST00000601226,;	141	64	43	SUCCESS
GDF15	9518	.	GRCh37	19	18499391	18499391	+	synonymous_variant	Silent	SNP	G	G	A	rs1244193646	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	79	0	ENST00000252809.3:c.573G>A	p.Gly191=	p.G191=	ENST00000252809	NM_004864.2	191	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12376.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF78	.	.	ENSP00000252809	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000252809	Transcript	.	.	ENSG00000130513	30142	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF15_HUMAN	GDF15	HGNC	.	.	UPI000006F640	SNV	GDF15,synonymous_variant,p.%3D,ENST00000252809,;LRRC25,downstream_gene_variant,,ENST00000595840,;GDF15,downstream_gene_variant,,ENST00000597765,;GDF15,downstream_gene_variant,,ENST00000595973,;LRRC25,downstream_gene_variant,,ENST00000339007,;MIR3189,downstream_gene_variant,,ENST00000578735,;GDF15,downstream_gene_variant,,ENST00000604609,;GDF15,downstream_gene_variant,,ENST00000594925,;	605	79	47	SUCCESS
CHAF1A	10036	.	GRCh37	19	4433231	4433231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	103	0	ENST00000301280.5:c.2368G>T	p.Ala790Ser	p.A790S	ENST00000301280	NM_005483.2	790	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32875.1	2368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGCCGCC	NONE	.	.	hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0,Pfam_domain:PF15539	.	.	ENSP00000301280	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000301280	Transcript	.	.	ENSG00000167670	1910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.95)	.	CAF1A_HUMAN	CHAF1A	HGNC	.	.	UPI00002030F8	SNV	CHAF1A,missense_variant,p.Ala790Ser,ENST00000301280,;CHAF1A,downstream_gene_variant,,ENST00000587739,;CTB-50L17.5,upstream_gene_variant,,ENST00000590159,;CHAF1A,non_coding_transcript_exon_variant,,ENST00000587368,;CHAF1A,downstream_gene_variant,,ENST00000585371,;	2469	103	45	SUCCESS
SHANK1	50944	.	GRCh37	19	51171702	51171702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	45	0	ENST00000293441.1:c.3515G>T	p.Ser1172Ile	p.S1172I	ENST00000293441	NM_016148.2	1172	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS12799.1	3515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,missense_variant,p.Ser1180Ile,ENST00000391814,;SHANK1,missense_variant,p.Ser559Ile,ENST00000391813,;SHANK1,missense_variant,p.Ser1163Ile,ENST00000359082,;SHANK1,missense_variant,p.Ser1172Ile,ENST00000293441,;SYT3,upstream_gene_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000468654,;	3534	45	20	SUCCESS
DENND2C	163259	.	GRCh37	1	115144131	115144131	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	rs763051614	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	112	416	0	ENST00000393274.1:c.1813A>T	p.Lys605Ter	p.K605*	ENST00000393274	NM_001256404.1	605	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS58018.1	1813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTTGAAA	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR15288:SF6,hmmpanther:PTHR15288,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000376955	.	13/21	.	.	.	.	.	.	.	.	rs763051614	13/21	PASS	ENST00000393274	Transcript	.	.	ENSG00000175984	24748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN2C_HUMAN	DENND2C	HGNC	.	.	UPI000048AF71	SNV	DENND2C,stop_gained,p.Lys605Ter,ENST00000393274,;DENND2C,stop_gained,p.Lys605Ter,ENST00000393277,;DENND2C,stop_gained,p.Lys548Ter,ENST00000393276,;DENND2C,splice_region_variant,,ENST00000481894,;	2439	416	245	SUCCESS
BCAN	63827	.	GRCh37	1	156616637	156616637	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	97	146	0	ENST00000329117.5:c.136C>A	p.Gln46Lys	p.Q46K	ENST00000329117	NM_021948.4	46	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1149.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCAGGGC	NONE	.	.	hmmpanther:PTHR22804,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000331210	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.85)	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,missense_variant,p.Gln46Lys,ENST00000361588,;BCAN,missense_variant,p.Gln46Lys,ENST00000441358,;BCAN,missense_variant,p.Gln46Lys,ENST00000457777,;BCAN,missense_variant,p.Gln46Lys,ENST00000329117,;BCAN,intron_variant,,ENST00000424639,;RP11-284F21.7,non_coding_transcript_exon_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,missense_variant,p.Gln46Lys,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000491823,;	472	146	146	SUCCESS
HMCN1	83872	.	GRCh37	1	185972870	185972870	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	36	124	0	ENST00000271588.4:c.4369A>G	p.Thr1457Ala	p.T1457A	ENST00000271588	NM_031935.2	1457	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS30956.1	4369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTACCAAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	29/107	.	.	.	.	.	.	.	.	.	29/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Thr1457Ala,ENST00000367492,;HMCN1,missense_variant,p.Thr1457Ala,ENST00000271588,;	4598	124	98	SUCCESS
HMCN1	83872	.	GRCh37	1	185988695	185988695	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	100	0	ENST00000271588.4:c.5493A>G	p.Ser1831=	p.S1831=	ENST00000271588	NM_031935.2	1831	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS30956.1	5493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCAGGCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	35/107	.	.	.	.	.	.	.	.	.	35/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	5722	100	86	SUCCESS
HMCN1	83872	.	GRCh37	1	186157140	186157140	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	89	0	ENST00000271588.4:c.16540G>C	p.Gly5514Arg	p.G5514R	ENST00000271588	NM_031935.2	5514	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS30956.1	16540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGGGTAT	NONE	.	.	hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000271588	.	106/107	.	.	.	.	.	.	.	.	.	106/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Gly5397Arg,ENST00000367492,;HMCN1,missense_variant,p.Gly189Arg,ENST00000414277,;HMCN1,missense_variant,p.Gly5514Arg,ENST00000271588,;	16769	89	92	SUCCESS
UBR4	23352	.	GRCh37	1	19401600	19401600	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	14	0	ENST00000375254.3:c.15488-210A>T		p.*5163*	ENST00000375254	NM_020765.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS189.1	.	MUTECT|MUSE	.	ACTGCTGGAAG	NONE	.	.	.	.	.	ENSP00000364403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODIFIER	105/105	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,intron_variant,,ENST00000543981,;UBR4,intron_variant,,ENST00000375267,;UBR4,intron_variant,,ENST00000375225,;UBR4,intron_variant,,ENST00000375224,;UBR4,intron_variant,,ENST00000375254,;UBR4,intron_variant,,ENST00000429347,;UBR4,intron_variant,,ENST00000375217,;UBR4,intron_variant,,ENST00000375226,;RP5-1126H10.2,non_coding_transcript_exon_variant,,ENST00000606379,;UBR4,intron_variant,,ENST00000486515,;UBR4,intron_variant,,ENST00000459947,;	.	14	8	SUCCESS
LAMB3	3914	.	GRCh37	1	209796353	209796353	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1437223325	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	42	129	0	ENST00000356082.4:c.2530G>A	p.Ala844Thr	p.A844T	ENST00000356082	NM_000228.2	844	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1487.1	2530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCATTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF245,hmmpanther:PTHR10574	.	.	ENSP00000375778	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000391911	Transcript	.	.	ENSG00000196878	6490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	LAMB3_HUMAN	LAMB3	HGNC	Q5THA1_HUMAN	.	UPI000012E76F	SNV	LAMB3,missense_variant,p.Ala844Thr,ENST00000356082,;LAMB3,missense_variant,p.Ala844Thr,ENST00000391911,;LAMB3,missense_variant,p.Ala844Thr,ENST00000367030,;LAMB3,upstream_gene_variant,,ENST00000455193,;MIR4260,downstream_gene_variant,,ENST00000583107,;	2920	129	121	SUCCESS
CDC42	998	.	GRCh37	1	22405002	22405002	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	24	97	0	ENST00000344548.3:c.31G>A	p.Asp11Asn	p.D11N	ENST00000344548	NM_001039802.1	11	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS221.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGATGGT	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF129,hmmpanther:PTHR24072,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000341072	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000344548	Transcript	.	.	ENSG00000070831	1736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0.03)	.	CDC42_HUMAN	CDC42	HGNC	Q9UJM1_HUMAN,Q9UJM0_HUMAN,Q5JYX0_HUMAN	.	UPI0000000356	SNV	CDC42,missense_variant,p.Asp11Asn,ENST00000400259,;CDC42,missense_variant,p.Asp11Asn,ENST00000344548,;CDC42,missense_variant,p.Asp11Asn,ENST00000315554,;CDC42,missense_variant,p.Asp11Asn,ENST00000411827,;CDC42,5_prime_UTR_variant,,ENST00000421089,;CDC42,non_coding_transcript_exon_variant,,ENST00000498236,;	282	97	38	SUCCESS
SNIP1	79753	.	GRCh37	1	38006245	38006245	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	79	0	ENST00000296215.6:c.439T>G	p.Ser147Ala	p.S147A	ENST00000296215	NM_024700.3	147	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS419.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGAATGGC	NONE	.	.	hmmpanther:PTHR23308,hmmpanther:PTHR23308:SF30	.	.	ENSP00000296215	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000296215	Transcript	.	.	ENSG00000163877	30587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.13)	.	SNIP1_HUMAN	SNIP1	HGNC	B1AK66_HUMAN	.	UPI000003603D	SNV	SNIP1,missense_variant,p.Ser147Ala,ENST00000296215,;SNIP1,non_coding_transcript_exon_variant,,ENST00000468040,;FTH1P1,upstream_gene_variant,,ENST00000437933,;	512	79	44	SUCCESS
MACF1	23499	.	GRCh37	1	39789908	39789908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	29	304	0	ENST00000372915.3:c.4295A>G	p.Lys1432Arg	p.K1432R	ENST00000372915		1432	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS435.1	4295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTAAAGAAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915	.	.	ENSP00000439537	.	34/94	.	.	.	.	.	.	.	.	.	34/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.236)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Lys566Arg,ENST00000372925,;MACF1,missense_variant,p.Lys1432Arg,ENST00000361689,;MACF1,missense_variant,p.Lys1427Arg,ENST00000564288,;MACF1,missense_variant,p.Lys1581Arg,ENST00000530262,;MACF1,missense_variant,p.Lys1432Arg,ENST00000539005,;MACF1,missense_variant,p.Lys1432Arg,ENST00000372915,;MACF1,missense_variant,p.Lys1432Arg,ENST00000317713,;MACF1,missense_variant,p.Lys1464Arg,ENST00000567887,;MACF1,missense_variant,p.Lys1432Arg,ENST00000545844,;MACF1,downstream_gene_variant,,ENST00000524432,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;MACF1,upstream_gene_variant,,ENST00000528611,;MACF1,3_prime_UTR_variant,,ENST00000496804,;	4403	304	185	SUCCESS
CTH	1491	.	GRCh37	1	70899550	70899550	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	74	0	ENST00000370938.3:c.917A>T	p.Gln306Leu	p.Q306L	ENST00000370938	NM_001902.5	306	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS650.1	917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTCAGTGTA	NONE	.	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF001434,Pfam_domain:PF01053,Gene3D:3.90.1150.10,hmmpanther:PTHR11808:SF15,hmmpanther:PTHR11808	.	.	ENSP00000359976	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000370938	Transcript	.	.	ENSG00000116761	2501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	CGL_HUMAN	CTH	HGNC	.	.	UPI00001275DE	SNV	CTH,missense_variant,p.Gln262Leu,ENST00000346806,;CTH,missense_variant,p.Gln274Leu,ENST00000411986,;CTH,missense_variant,p.Gln306Leu,ENST00000370938,;CTH,downstream_gene_variant,,ENST00000464926,;CTH,upstream_gene_variant,,ENST00000482383,;	1061	74	48	SUCCESS
ERRFI1	54206	.	GRCh37	1	8073831	8073831	+	synonymous_variant	Silent	SNP	G	G	A	rs775458241	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	42	151	0	ENST00000377482.5:c.828C>T	p.Ser276=	p.S276=	ENST00000377482	NM_018948.3	276	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS94.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGGAGTT	NONE	byFrequency	.	hmmpanther:PTHR14254	.	.	ENSP00000366702	.	4/4	.	.	.	.	.	.	.	.	rs775458241	4/4	PASS	ENST00000377482	Transcript	.	.	ENSG00000116285	18185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERRFI_HUMAN	ERRFI1	HGNC	I6S2Y9_HUMAN	.	UPI000012F0FC	SNV	ERRFI1,synonymous_variant,p.%3D,ENST00000377482,;ERRFI1,3_prime_UTR_variant,,ENST00000469499,;ERRFI1,3_prime_UTR_variant,,ENST00000467067,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,downstream_gene_variant,,ENST00000487559,;	1052	151	65	SUCCESS
CLCA2	9635	.	GRCh37	1	86916392	86916392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	95	0	ENST00000370565.4:c.2131T>A	p.Tyr711Asn	p.Y711N	ENST00000370565	NM_006536.5	711	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS708.1	2131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGTATGTA	NONE	.	.	hmmpanther:PTHR10579:SF39,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359596	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000370565	Transcript	.	.	ENSG00000137975	2016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CLCA2_HUMAN	CLCA2	HGNC	.	.	UPI0000035838	SNV	CLCA2,missense_variant,p.Tyr711Asn,ENST00000370565,;CLCA2,non_coding_transcript_exon_variant,,ENST00000498802,;	2293	95	62	SUCCESS
ANKEF1	63926	.	GRCh37	20	10035112	10035112	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	rs780368565	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	138	258	1	ENST00000378380.3:c.2037A>C	p.Glu679Asp	p.E679D	ENST00000378380	NM_198798.1	679	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS13108.1	2037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAACTGCT	NONE	.	.	hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1	.	.	ENSP00000367631	.	9/10	.	.	.	.	.	.	.	.	rs780368565	9/10	PASS	ENST00000378380	Transcript	.	.	ENSG00000132623	15803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	tolerated(0.33)	.	ANKE1_HUMAN	ANKEF1	HGNC	.	.	UPI0000125B51	SNV	ANKEF1,missense_variant,p.Glu679Asp,ENST00000378380,;ANKEF1,missense_variant,p.Glu679Asp,ENST00000378392,;AL109754.1,upstream_gene_variant,,ENST00000408554,;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,splice_region_variant,,ENST00000488991,;	2366	259	239	SUCCESS
NRSN2	80023	.	GRCh37	20	330326	330326	+	synonymous_variant	Silent	SNP	C	C	T	rs368963058	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	30	0	ENST00000382285.2:c.39C>T	p.Arg13=	p.R13=	ENST00000382285		13	cgC/cgT	0	T:0.0002	.	.	.	.	T	R	protein_coding	YES	CCDS12996.1	39	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGCGGCCC	NONE	byCluster	.	hmmpanther:PTHR14796,hmmpanther:PTHR14796:SF4	.	T:0	ENSP00000371728	.	3/4	.	.	.	.	.	.	.	.	rs368963058	3/4	PASS	ENST00000382291	Transcript	.	.	ENSG00000125841	16229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRSN2_HUMAN	NRSN2	HGNC	.	.	UPI0000037BF7	SNV	NRSN2,synonymous_variant,p.%3D,ENST00000608736,;NRSN2,synonymous_variant,p.%3D,ENST00000382291,;NRSN2,synonymous_variant,p.%3D,ENST00000470439,;NRSN2,synonymous_variant,p.%3D,ENST00000382285,;NRSN2,synonymous_variant,p.%3D,ENST00000609179,;NRSN2,synonymous_variant,p.%3D,ENST00000609504,;NRSN2,upstream_gene_variant,,ENST00000608875,;RP5-1103G7.4,upstream_gene_variant,,ENST00000442637,;NRSN2,non_coding_transcript_exon_variant,,ENST00000608467,;NRSN2,intron_variant,,ENST00000492242,;	279	30	52	SUCCESS
LPIN3	64900	.	GRCh37	20	39978710	39978710	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151029601	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	51	125	0	ENST00000373257.3:c.775C>T	p.Arg259Trp	p.R259W	ENST00000373257	NM_022896.1	259	Cgg/Tgg	0	T:0.0036	T:0.0083	.	T:0.0014	.	T	R/W	protein_coding	YES	CCDS33469.1	775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCGGCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12181:SF32,hmmpanther:PTHR12181	T:0	T:0	ENSP00000362354	T:0	7/20	.	.	.	.	.	.	.	.	rs151029601	7/20	PASS	ENST00000373257	Transcript	.	T:0.0024	ENSG00000132793	14451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	T:0	tolerated(0.25)	.	LPIN3_HUMAN	LPIN3	HGNC	.	.	UPI0000470AE3	SNV	LPIN3,missense_variant,p.Arg259Trp,ENST00000373257,;LPIN3,upstream_gene_variant,,ENST00000445975,;	866	125	107	SUCCESS
TPTE	7179	.	GRCh37	21	10906928	10906928	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs267606168	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	16	185	0	ENST00000361285.4:c.1633G>T	p.Asp545Tyr	p.D545Y	ENST00000361285	NM_199261.2	545	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS13560.2	1633	RADIA|MUTECT|MUSE|VARSCANS	.	AACATCACTGG	NONE	.	.	.	.	.	ENSP00000355208	.	24/24	.	.	.	.	.	.	.	.	COSM36700,COSM1136814	24/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.022)	.	tolerated_low_confidence(0.55)	1,1	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Asp545Tyr,ENST00000361285,;TPTE,missense_variant,p.Asp507Tyr,ENST00000342420,;TPTE,missense_variant,p.Asp527Tyr,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	1963	185	110	SUCCESS
HUNK	30811	.	GRCh37	21	33368209	33368209	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	37	276	0	ENST00000270112.2:c.1434C>T	p.Thr478=	p.T478=	ENST00000270112	NM_014586.1	478	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13610.1	1434	RADIA|MUTECT|MUSE|VARSCANS	.	AACACCAAAGC	NONE	.	.	hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343	.	.	ENSP00000270112	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000270112	Transcript	.	.	ENSG00000142149	13326	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HUNK_HUMAN	HUNK	HGNC	.	.	UPI0000035B66	SNV	HUNK,synonymous_variant,p.%3D,ENST00000439107,;HUNK,synonymous_variant,p.%3D,ENST00000270112,;HUNK,non_coding_transcript_exon_variant,,ENST00000465574,;	1794	276	197	SUCCESS
CLDN5	7122	.	GRCh37	22	19511459	19511477	+	protein_altering_variant	In_Frame_Del	DEL	CAGGTGGTGCACTGCGCGC	CAGGTGGTGCACTGCGCGC	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	CAGGTGGTGCACTGCGCGC	CAGGTGGTGCACTGCGCGC	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	85	0	ENST00000406028.1:c.557_575delinsT	p.Gly186_Cys192delinsVal	p.G186_C192delinsV	ENST00000406028		186	gGCGCGCAGTGCACCACCTGc/gTc	0	.	.	.	.	.	A	GAQCTTC/V	protein_coding	YES	CCDS13763.2	557-575	INDELOCATOR*|PINDEL	.	GCCACGCAGGTGGTGCACTGCGCGCCCGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF35,Pfam_domain:PF00822,Prints_domain:PR01077,Prints_domain:PR01380	.	.	ENSP00000385477	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000406028	Transcript	.	.	ENSG00000184113	2047	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLD5_HUMAN	CLDN5	HGNC	D3DX19_HUMAN	.	UPI0000207B80	substitution	CLDN5,protein_altering_variant,p.Gly186_Cys192delinsVal,ENST00000413119,;CLDN5,protein_altering_variant,p.Gly186_Cys192delinsVal,ENST00000406028,;CLDN5,protein_altering_variant,p.Gly186_Cys192delinsVal,ENST00000403084,;CDC45,downstream_gene_variant,,ENST00000407835,;CDC45,downstream_gene_variant,,ENST00000263201,;CDC45,downstream_gene_variant,,ENST00000404724,;CDC45,downstream_gene_variant,,ENST00000437685,;CDC45,downstream_gene_variant,,ENST00000493724,;	1618-1636	85	49	SUCCESS
C22orf42	150297	.	GRCh37	22	32555161	32555161	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	62	0	ENST00000382097.3:c.42C>G	p.Gly14=	p.G14=	ENST00000382097	NM_001010859.1	14	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS33639.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGCCCCC	NONE	.	.	hmmpanther:PTHR15880:SF1,hmmpanther:PTHR15880	.	.	ENSP00000371529	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000382097	Transcript	.	.	ENSG00000205856	27160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV042_HUMAN	C22orf42	HGNC	.	.	UPI00003765B0	SNV	C22orf42,synonymous_variant,p.%3D,ENST00000382097,;RP1-90G24.8,downstream_gene_variant,,ENST00000426354,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;	115	62	27	SUCCESS
SBF1	6305	.	GRCh37	22	50903443	50903443	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	98	0	ENST00000380817.3:c.1319A>G	p.Asp440Gly	p.D440G	ENST00000380817	NM_002972.2	440	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS14091.2	1319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTCCGTA	NONE	.	.	hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43	.	.	ENSP00000370196	.	12/41	.	.	.	.	.	.	.	.	.	12/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,missense_variant,p.Asp440Gly,ENST00000390679,;SBF1,missense_variant,p.Asp441Gly,ENST00000348911,;SBF1,missense_variant,p.Asp440Gly,ENST00000380817,;SBF1,downstream_gene_variant,,ENST00000477234,;SBF1,downstream_gene_variant,,ENST00000399627,;	1503	98	59	SUCCESS
GREB1	9687	.	GRCh37	2	11720965	11720965	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	98	0	ENST00000234142.5:c.901+7C>A		p.X301_splice	ENST00000234142		301		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42655.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTCTGCCT	NONE	.	.	.	.	.	ENSP00000370896	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	LOW	7/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Ser193Tyr,ENST00000389825,;GREB1,splice_region_variant,,ENST00000234142,;GREB1,splice_region_variant,,ENST00000263834,;GREB1,splice_region_variant,,ENST00000381483,;GREB1,splice_region_variant,,ENST00000381486,;RN7SL674P,upstream_gene_variant,,ENST00000463397,;	.	98	68	SUCCESS
FN1	2335	.	GRCh37	2	216273051	216273051	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	68	256	0	ENST00000359671.1:c.2398A>G	p.Ser800Gly	p.S800G	ENST00000359671		800	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS42814.1	2398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACTCTGCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	16/46	.	.	.	.	.	.	.	.	.	16/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	deleterious(0.02)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Ser800Gly,ENST00000357867,;FN1,missense_variant,p.Ser800Gly,ENST00000432072,;FN1,missense_variant,p.Ser800Gly,ENST00000421182,;FN1,missense_variant,p.Ser800Gly,ENST00000443816,;FN1,missense_variant,p.Ser800Gly,ENST00000346544,;FN1,missense_variant,p.Ser800Gly,ENST00000345488,;FN1,missense_variant,p.Ser800Gly,ENST00000354785,;FN1,missense_variant,p.Ser800Gly,ENST00000336916,;FN1,missense_variant,p.Ser800Gly,ENST00000359671,;FN1,missense_variant,p.Ser800Gly,ENST00000357009,;FN1,missense_variant,p.Ser800Gly,ENST00000446046,;FN1,missense_variant,p.Ser800Gly,ENST00000323926,;FN1,missense_variant,p.Ser800Gly,ENST00000356005,;FN1,non_coding_transcript_exon_variant,,ENST00000471193,;	2768	256	186	SUCCESS
ANKMY1	51281	.	GRCh37	2	241463326	241463326	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373595407	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	50	0	ENST00000272972.3:c.1541G>A	p.Arg514Gln	p.R514Q	ENST00000272972	NM_016552.2	514	cGg/cAg	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS2536.1	1541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCGCATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897,SMART_domains:SM00248	.	T:0	ENSP00000375847	.	8/18	.	.	.	.	.	.	.	.	rs373595407	8/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious(0.03)	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,missense_variant,p.Arg373Gln,ENST00000405523,;ANKMY1,missense_variant,p.Arg514Gln,ENST00000391987,;ANKMY1,missense_variant,p.Arg373Gln,ENST00000361678,;ANKMY1,missense_variant,p.Arg284Gln,ENST00000405002,;ANKMY1,missense_variant,p.Arg284Gln,ENST00000373320,;ANKMY1,missense_variant,p.Arg452Gln,ENST00000403283,;ANKMY1,missense_variant,p.Arg603Gln,ENST00000401804,;ANKMY1,missense_variant,p.Arg514Gln,ENST00000272972,;ANKMY1,missense_variant,p.Arg326Gln,ENST00000536462,;ANKMY1,missense_variant,p.Arg373Gln,ENST00000373318,;ANKMY1,missense_variant,p.Arg275Gln,ENST00000406958,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;	1908	50	37	SUCCESS
AC104809.2	0	.	GRCh37	2	241922310	241922310	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs575273528	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	121	0	ENST00000425110.1:n.967G>A		p.*323*	ENST00000425110				0	.	G:0.0008	.	G:0	.	T	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACGCTGC	NONE	byCluster|by1000G	.	.	G:0	.	.	G:0	2/2	.	.	.	.	.	.	.	.	rs575273528	2/2	PASS	ENST00000425110	Transcript	.	G:0.0002	ENSG00000223991	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	.	AC104809.2	Clone_based_vega_gene	.	.	.	SNV	AC104809.3,missense_variant,p.Thr61Met,ENST00000443866,;AC104809.2,non_coding_transcript_exon_variant,,ENST00000425110,;	967	121	64	SUCCESS
CXXC11	0	.	GRCh37	2	242815105	242815105	+	synonymous_variant	Silent	SNP	G	G	A	rs776573665	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	79	0	ENST00000343216.3:c.1398G>A	p.Thr466=	p.T466=	ENST00000343216	NM_173821.2	466	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS42843.1	1398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACGGTTAG	NONE	.	.	.	.	.	ENSP00000345374	.	2/2	.	.	.	.	.	.	.	.	rs776573665,COSM1631932	2/2	PASS	ENST00000343216	Transcript	.	.	ENSG00000188011	26585	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CB085_HUMAN	CXXC11	HGNC	.	.	UPI000014050F	SNV	CXXC11,synonymous_variant,p.%3D,ENST00000343216,;CXXC11,3_prime_UTR_variant,,ENST00000419912,;	1426	79	51	SUCCESS
SIX3	6496	.	GRCh37	2	45171797	45171797	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	39	274	0	ENST00000260653.3:c.897G>A	p.Thr299=	p.T299=	ENST00000260653	NM_005413.3	299	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1821.1	897	RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGGCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31	.	.	ENSP00000260653	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000260653	Transcript	.	.	ENSG00000138083	10889	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIX3_HUMAN	SIX3	HGNC	Q9NSJ2_HUMAN,A0PJI2_HUMAN	.	UPI00001359C4	SNV	SIX3,synonymous_variant,p.%3D,ENST00000260653,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;	1239	274	179	SUCCESS
SNRNP200	23020	.	GRCh37	2	96943407	96943412	+	inframe_deletion	In_Frame_Del	DEL	CCATTG	CCATTG	-	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	CCATTG	CCATTG	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	43	0	ENST00000323853.5:c.5796_5801del	p.Ser1932_Gly1934delinsArg	p.S1932_G1934delinsR	ENST00000323853	NM_014014.4	1932	agCAATGGg/agg	0	.	.	.	.	.	-	SNG/R	protein_coding	YES	CCDS2020.1	5796-5801	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCACCCATTGCTGGA	NONE	.	.	Gene3D:2q0zX01,Pfam_domain:PF02889,SMART_domains:SM00973,SMART_domains:SM00611,Superfamily_domains:SSF158702	.	.	ENSP00000317123	.	41/45	.	.	.	.	.	.	.	.	.	41/45	PASS	ENST00000323853	Transcript	.	.	ENSG00000144028	30859	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	U520_HUMAN	SNRNP200	HGNC	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN	.	UPI0000207C53	deletion	SNRNP200,inframe_deletion,p.Ser1932_Gly1934delinsArg,ENST00000323853,;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,inframe_deletion,p.Ser459_Gly461delinsArg,ENST00000429650,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000497539,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000480835,;SNRNP200,downstream_gene_variant,,ENST00000484372,;SNRNP200,downstream_gene_variant,,ENST00000493271,;CIAO1,downstream_gene_variant,,ENST00000272402,;SNRNP200,downstream_gene_variant,,ENST00000480242,;	5874-5879	43	29	SUCCESS
HGD	3081	.	GRCh37	3	120369681	120369681	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	106	0	ENST00000283871.5:c.374T>A	p.Ile125Lys	p.I125K	ENST00000283871	NM_000187.3	125	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS3000.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTATGTCT	NONE	.	.	hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Pfam_domain:PF04209,Superfamily_domains:SSF51182	.	.	ENSP00000283871	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000283871	Transcript	.	.	ENSG00000113924	4892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	deleterious(0.02)	.	HGD_HUMAN	HGD	HGNC	B3KW64_HUMAN	.	UPI000020A025	SNV	HGD,missense_variant,p.Ile84Lys,ENST00000476082,;HGD,missense_variant,p.Ile125Lys,ENST00000283871,;HGD,upstream_gene_variant,,ENST00000494453,;HGD,upstream_gene_variant,,ENST00000475447,;HGD,non_coding_transcript_exon_variant,,ENST00000485313,;HGD,downstream_gene_variant,,ENST00000488183,;HGD,missense_variant,p.Ile2Lys,ENST00000492108,;	834	106	78	SUCCESS
CCDC37	0	.	GRCh37	3	126153141	126153141	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	49	261	0	ENST00000352312.1:c.1545T>G	p.Asp515Glu	p.D515E	ENST00000352312	NM_182628.2	515	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS3037.1	1545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGAGCT	NONE	.	.	hmmpanther:PTHR21683:SF5,hmmpanther:PTHR21683	.	.	ENSP00000344749	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000352312	Transcript	.	.	ENSG00000163885	26842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.15)	.	CCD37_HUMAN	CCDC37	HGNC	.	.	UPI000013E315	SNV	CCDC37,missense_variant,p.Asp516Glu,ENST00000505024,;CCDC37,missense_variant,p.Asp516Glu,ENST00000393425,;CCDC37,missense_variant,p.Asp515Glu,ENST00000352312,;ZXDC,downstream_gene_variant,,ENST00000389709,;CCDC37,non_coding_transcript_exon_variant,,ENST00000506204,;ZXDC,downstream_gene_variant,,ENST00000515545,;ZXDC,downstream_gene_variant,,ENST00000514463,;	1644	261	165	SUCCESS
MCF2L2	23101	.	GRCh37	3	183017980	183017980	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	46	0	ENST00000328913.3:c.1118C>G	p.Pro373Arg	p.P373R	ENST00000328913	NM_015078.2	373	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS3243.1	1118	RADIA|MUTECT|MUSE	.	CCAGGGGCTCC	NONE	.	.	hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000328118	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.26)	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,missense_variant,p.Pro373Arg,ENST00000473233,;MCF2L2,missense_variant,p.Pro373Arg,ENST00000447025,;MCF2L2,missense_variant,p.Pro373Arg,ENST00000328913,;MCF2L2,missense_variant,p.Pro373Arg,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000462559,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000459750,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000492331,;MCF2L2,upstream_gene_variant,,ENST00000475664,;	1416	46	39	SUCCESS
FYCO1	79443	.	GRCh37	3	45977942	45977942	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	28	93	0	ENST00000296137.2:c.4038G>T		p.X1346_splice	ENST00000296137	NM_024513.3	1346	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2734.1	4038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATCAGTTC	NONE	.	.	PROSITE_profiles:PS50866,hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851	.	.	ENSP00000296137	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,synonymous_variant,p.%3D,ENST00000296137,;FYCO1,synonymous_variant,p.%3D,ENST00000433878,;FYCO1,synonymous_variant,p.%3D,ENST00000438446,;FYCO1,synonymous_variant,p.%3D,ENST00000535325,;CXCR6,upstream_gene_variant,,ENST00000438735,;	4244	93	52	SUCCESS
UGT2B7	7364	.	GRCh37	4	69962520	69962521	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	123	37	176	0	ENST00000305231.7:c.282_283del	p.Lys95GlufsTer26	p.K95Efs*26	ENST00000305231	NM_001074.2	94	atTAag/atag	0	.	.	.	.	.	-	IK/IX	protein_coding	YES	CCDS3526.1	282-283	VARSCANI*|PINDEL	.	ACAGATTAAGAGA	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000304811	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305231	Transcript	.	.	ENSG00000171234	12554	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UD2B7_HUMAN	UGT2B7	HGNC	Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN	.	UPI00000015EC	deletion	UGT2B7,frameshift_variant,p.Lys95GlufsTer26,ENST00000305231,;UGT2B7,frameshift_variant,p.Lys95GlufsTer26,ENST00000508661,;UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	328-329	176	160	SUCCESS
PDLIM5	10611	.	GRCh37	4	95506024	95506024	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	69	240	0	ENST00000317968.4:c.711-692G>T		p.*237*	ENST00000317968	NM_001256428.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58916.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGACTAC	NONE	.	.	.	.	.	ENSP00000424360	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000514743	Transcript	.	.	ENSG00000163110	17468	.	.	MODIFIER	4/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDLIM5	HGNC	D6RB78_HUMAN	.	UPI000013E231	SNV	PDLIM5,intron_variant,,ENST00000317968,;PDLIM5,intron_variant,,ENST00000513341,;PDLIM5,intron_variant,,ENST00000538141,;PDLIM5,intron_variant,,ENST00000380180,;PDLIM5,intron_variant,,ENST00000318007,;PDLIM5,intron_variant,,ENST00000503974,;PDLIM5,intron_variant,,ENST00000450793,;PDLIM5,intron_variant,,ENST00000437932,;PDLIM5,intron_variant,,ENST00000514743,;PDLIM5,intron_variant,,ENST00000542407,;PDLIM5,intron_variant,,ENST00000508216,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000380176,;PDLIM5,intron_variant,,ENST00000511586,;PDLIM5,downstream_gene_variant,,ENST00000508531,;PDLIM5,downstream_gene_variant,,ENST00000514830,;PDLIM5,intron_variant,,ENST00000509357,;PDLIM5,upstream_gene_variant,,ENST00000506632,;	.	240	152	SUCCESS
NREP	9315	.	GRCh37	5	111091584	111091584	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	37	1	ENST00000257435.7:c.-58-57T>C		p.*20*	ENST00000257435	NM_004772.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47255.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAACGAAAAAT	NONE	.	.	.	.	.	ENSP00000378996	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395634	Transcript	.	.	ENSG00000134986	16834	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NREP_HUMAN	NREP	HGNC	.	.	UPI000187F6BB	SNV	NREP,5_prime_UTR_variant,,ENST00000447165,;NREP,5_prime_UTR_variant,,ENST00000507032,;NREP,5_prime_UTR_variant,,ENST00000513100,;NREP,5_prime_UTR_variant,,ENST00000508870,;NREP,intron_variant,,ENST00000453526,;NREP,intron_variant,,ENST00000509979,;NREP,intron_variant,,ENST00000509025,;NREP,intron_variant,,ENST00000395634,;NREP,intron_variant,,ENST00000508161,;NREP,intron_variant,,ENST00000450761,;NREP,intron_variant,,ENST00000446294,;NREP,intron_variant,,ENST00000515855,;NREP,intron_variant,,ENST00000419114,;NREP,intron_variant,,ENST00000509427,;NREP,intron_variant,,ENST00000455559,;NREP,intron_variant,,ENST00000257435,;NREP,intron_variant,,ENST00000379671,;NREP,intron_variant,,ENST00000507742,;NREP,non_coding_transcript_exon_variant,,ENST00000504018,;NREP,intron_variant,,ENST00000503429,;NREP,intron_variant,,ENST00000513684,;NREP,intron_variant,,ENST00000505864,;NREP,intron_variant,,ENST00000514515,;	.	38	23	SUCCESS
DDX46	9879	.	GRCh37	5	134147507	134147507	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	167	0	ENST00000354283.4:c.2408A>G	p.Asp803Gly	p.D803G	ENST00000354283		803	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS34240.1	2408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGATTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158	.	.	ENSP00000346236	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,missense_variant,p.Asp803Gly,ENST00000354283,;DDX46,missense_variant,p.Asp803Gly,ENST00000452510,;DDX46,3_prime_UTR_variant,,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000503946,;	2543	167	81	SUCCESS
SLC4A9	83697	.	GRCh37	5	139751849	139751849	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762998447	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	156	0	ENST00000507527.1:c.2765G>A	p.Arg922Gln	p.R922Q	ENST00000507527		922	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS58973.1	2765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGAAAGG	NONE	byFrequency	.	TIGRFAM_domain:TIGR00834,hmmpanther:PTHR11453:SF33,hmmpanther:PTHR11453	.	.	ENSP00000230993	.	20/22	.	.	.	.	.	.	.	.	rs762998447,COSM4155479,COSM4155478,COSM4155480	20/22	PASS	ENST00000230993	Transcript	.	.	ENSG00000113073	11035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	0,1,1,1	B3A4_HUMAN	SLC4A9	HGNC	.	.	UPI000018336F	SNV	SLC4A9,missense_variant,p.Arg922Gln,ENST00000230993,;SLC4A9,missense_variant,p.Arg835Gln,ENST00000506545,;SLC4A9,missense_variant,p.Arg884Gln,ENST00000432095,;SLC4A9,missense_variant,p.Arg922Gln,ENST00000507527,;SLC4A9,missense_variant,p.Arg898Gln,ENST00000506757,;CTC-329D1.2,intron_variant,,ENST00000507521,;SLC4A9,non_coding_transcript_exon_variant,,ENST00000504742,;SLC4A9,downstream_gene_variant,,ENST00000514849,;	2800	157	84	SUCCESS
PCDHGB1	56104	.	GRCh37	5	140730929	140730929	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs867459693	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	26	79	0	ENST00000523390.1:c.1102C>T	p.Arg368Ter	p.R368*	ENST00000523390	NM_018922.2	368	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS54923.1	1102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGCGAGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429273	.	1/4	.	.	.	.	.	.	.	.	COSM262818,COSM262819	1/4	PASS	ENST00000523390	Transcript	.	.	ENSG00000254221	8708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PCDGD_HUMAN	PCDHGB1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073588	SNV	PCDHGB1,stop_gained,p.Arg368Ter,ENST00000523390,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA4,upstream_gene_variant,,ENST00000571252,;	1102	79	46	SUCCESS
DOCK2	1794	.	GRCh37	5	169412861	169412861	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	88	0	ENST00000256935.8:c.2928C>A	p.Phe976Leu	p.F976L	ENST00000256935	NM_004946.2	976	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS4371.1	2928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCAAGGA	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	29/52	.	.	.	.	.	.	.	.	COSM3919665	29/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.967)	.	deleterious(0.01)	1	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Phe37Leu,ENST00000540750,;DOCK2,missense_variant,p.Phe976Leu,ENST00000256935,;DOCK2,missense_variant,p.Phe468Leu,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000522994,;DOCK2,missense_variant,p.Phe976Leu,ENST00000524185,;	3008	88	51	SUCCESS
NR2E1	7101	.	GRCh37	6	108492696	108492696	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	90	0	ENST00000368986.4:c.60C>T	p.Gly20=	p.G20=	ENST00000368986	NM_003269.3	20	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5063.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCGACCG	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF79,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000357982	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000368986	Transcript	.	.	ENSG00000112333	7973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR2E1_HUMAN	NR2E1	HGNC	B6ZGT9_HUMAN,A6PVF6_HUMAN	.	UPI0000130478	SNV	NR2E1,synonymous_variant,p.%3D,ENST00000368986,;NR2E1,synonymous_variant,p.%3D,ENST00000368983,;NR2E1,5_prime_UTR_variant,,ENST00000426403,;NR2E1,upstream_gene_variant,,ENST00000484978,;	768	90	48	SUCCESS
TTLL2	83887	.	GRCh37	6	167754181	167754181	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	87	0	ENST00000239587.5:c.793T>A	p.Phe265Ile	p.F265I	ENST00000239587	NM_031949.4	265	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS5301.1	793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTTTAAG	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90,Pfam_domain:PF03133,Superfamily_domains:SSF56059	.	.	ENSP00000239587	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000239587	Transcript	.	.	ENSG00000120440	21211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TTLL2_HUMAN	TTLL2	HGNC	.	.	UPI00001A3A8B	SNV	TTLL2,missense_variant,p.Phe265Ile,ENST00000239587,;TTLL2,missense_variant,p.Phe265Ile,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	881	87	36	SUCCESS
MLLT4	0	.	GRCh37	6	168352526	168352526	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs371470293	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	111	273	0	ENST00000447894.2:c.4471G>T	p.Glu1491Ter	p.E1491*	ENST00000447894		1491	Gag/Tag	0	A:0	.	.	.	.	T	E/*	protein_coding	YES	CCDS47517.1	4471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATCGAGCGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10398	.	A:0.0001	ENSP00000375956	.	29/30	.	.	.	.	.	.	.	.	rs371470293	29/30	PASS	ENST00000392108	Transcript	.	.	ENSG00000130396	7137	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAD_HUMAN	MLLT4	HGNC	.	.	UPI0000711FD9	SNV	MLLT4,stop_gained,p.Glu1498Ter,ENST00000351017,;MLLT4,stop_gained,p.Glu1491Ter,ENST00000447894,;MLLT4,stop_gained,p.Glu1491Ter,ENST00000392108,;MLLT4,stop_gained,p.Glu1474Ter,ENST00000392112,;MLLT4,stop_gained,p.Glu1491Ter,ENST00000344191,;MLLT4,stop_gained,p.Glu1490Ter,ENST00000400822,;MLLT4,stop_gained,p.Glu1491Ter,ENST00000366806,;MLLT4,upstream_gene_variant,,ENST00000507704,;MLLT4,upstream_gene_variant,,ENST00000476946,;MLLT4,downstream_gene_variant,,ENST00000507679,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,downstream_gene_variant,,ENST00000509296,;	4613	273	164	SUCCESS
SLC44A4	80736	.	GRCh37	6	31842544	31842544	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747620646	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	50	145	0	ENST00000229729.6:c.422A>G	p.Tyr141Cys	p.Y141C	ENST00000229729	NM_025257.2	141	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4724.2	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTATAGAAG	BUFFER|p.N144fs*55|c.431_432insA|3	.	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37	.	.	ENSP00000229729	.	6/21	.	.	.	.	.	.	.	.	rs747620646	6/21	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.447)	.	tolerated(0.1)	.	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,missense_variant,p.Tyr141Cys,ENST00000229729,;SLC44A4,missense_variant,p.Tyr137Cys,ENST00000414427,;SLC44A4,missense_variant,p.Tyr65Cys,ENST00000544672,;SLC44A4,intron_variant,,ENST00000375562,;EHMT2,downstream_gene_variant,,ENST00000375528,;EHMT2,downstream_gene_variant,,ENST00000395728,;EHMT2,downstream_gene_variant,,ENST00000375530,;EHMT2,downstream_gene_variant,,ENST00000375537,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000465707,;EHMT2,downstream_gene_variant,,ENST00000480912,;SLC44A4,downstream_gene_variant,,ENST00000462671,;EHMT2,downstream_gene_variant,,ENST00000478491,;EHMT2,downstream_gene_variant,,ENST00000461880,;SLC44A4,upstream_gene_variant,,ENST00000479777,;SLC44A4,upstream_gene_variant,,ENST00000475563,;EHMT2,downstream_gene_variant,,ENST00000494816,;	443	145	98	SUCCESS
BMP5	653	.	GRCh37	6	55623820	55623820	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1351901968	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	36	97	0	ENST00000370830.3:c.1198G>A	p.Ala400Thr	p.A400T	ENST00000370830	NM_021073.2	400	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4958.1	1198	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TATAGCGTGGT	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000359866	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,missense_variant,p.Ala400Thr,ENST00000370830,;BMP5,intron_variant,,ENST00000446683,;	1897	97	75	SUCCESS
HTR1E	3354	.	GRCh37	6	87725376	87725376	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	113	0	ENST00000305344.5:c.324C>A	p.Cys108Ter	p.C108*	ENST00000305344	NM_000865.2	108	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS5006.1	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCTCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000307766	.	2/2	.	.	.	.	.	.	.	.	COSM3875918	2/2	PASS	ENST00000305344	Transcript	.	.	ENSG00000168830	5291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	5HT1E_HUMAN	HTR1E	HGNC	.	.	UPI000000126D	SNV	HTR1E,stop_gained,p.Cys108Ter,ENST00000305344,;	1027	113	63	SUCCESS
ABCA13	154664	.	GRCh37	7	48450211	48450211	+	synonymous_variant	Silent	SNP	C	C	T	rs147804711	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	107	0	ENST00000435803.1:c.12165C>T	p.Cys4055=	p.C4055=	ENST00000435803	NM_152701.3	4055	tgC/tgT	0	T:0.0077	T:0.0106	.	T:0.0086	.	T	C	protein_coding	YES	CCDS47584.1	12165	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCGGTCC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	T:0	T:0.0002	ENSP00000411096	T:0	40/62	.	.	.	.	.	.	.	.	rs147804711	40/62	common_in_exac	ENST00000435803	Transcript	.	T:0.0040	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,synonymous_variant,p.%3D,ENST00000453246,;	12189	107	99	SUCCESS
WBSCR17	0	.	GRCh37	7	71175897	71175897	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370276097	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	53	0	ENST00000333538.5:c.1652G>A	p.Arg551His	p.R551H	ENST00000333538	NM_022479.2	551	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS5540.1	1652	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCGCTGGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	A:0.0001	ENSP00000329654	.	10/11	.	.	.	.	.	.	.	.	rs370276097	10/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.414)	.	tolerated(0.57)	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Arg551His,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	2286	53	37	SUCCESS
VPS13B	157680	.	GRCh37	8	100443809	100443809	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	8	101	0	ENST00000358544.2:c.3127T>C	p.Ser1043Pro	p.S1043P	ENST00000358544	NM_017890.4	1043	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6280.1	3127	MUTECT|MUSE	.	ATATATCTGAA	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	22/62	.	.	.	.	.	.	.	.	.	22/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.125)	.	tolerated(0.08)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Ser1043Pro,ENST00000395996,;VPS13B,missense_variant,p.Ser1043Pro,ENST00000358544,;VPS13B,missense_variant,p.Ser1043Pro,ENST00000357162,;VPS13B,non_coding_transcript_exon_variant,,ENST00000521037,;VPS13B,missense_variant,p.Ser1043Pro,ENST00000496144,;	3238	101	157	SUCCESS
ANGPT1	284	.	GRCh37	8	108297043	108297043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	183	35	154	0	ENST00000517746.1:c.1072G>T	p.Gly358Trp	p.G358W	ENST00000517746	NM_001199859.1	358	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS6306.1	1072	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCCCAGCC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000428340	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000517746	Transcript	.	.	ENSG00000154188	484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ANGP1_HUMAN	ANGPT1	HGNC	E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN	.	UPI0000034766	SNV	ANGPT1,missense_variant,p.Gly158Trp,ENST00000520734,;ANGPT1,missense_variant,p.Gly358Trp,ENST00000517746,;ANGPT1,missense_variant,p.Gly157Trp,ENST00000520052,;ANGPT1,missense_variant,p.Gly357Trp,ENST00000297450,;ANGPT1,intron_variant,,ENST00000518386,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000522400,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000521950,;	1524	154	219	SUCCESS
PLEC	5339	.	GRCh37	8	144994165	144994165	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782481395	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	12	61	0	ENST00000322810.4:c.10235G>A	p.Arg3412His	p.R3412H	ENST00000322810	NM_201380.2	3412	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43772.1	10235	MUTECT|MUSE|VARSCANS	.	CCGTGCGGAAC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	.	.	ENSP00000323856	.	32/32	.	.	.	.	.	.	.	.	rs782481395	32/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Arg3412His,ENST00000322810,;PLEC,missense_variant,p.Arg3298His,ENST00000527096,;PLEC,missense_variant,p.Arg3275His,ENST00000345136,;PLEC,missense_variant,p.Arg3279His,ENST00000357649,;PLEC,missense_variant,p.Arg3243His,ENST00000398774,;PLEC,missense_variant,p.Arg3275His,ENST00000354589,;PLEC,missense_variant,p.Arg3261His,ENST00000356346,;PLEC,missense_variant,p.Arg3302His,ENST00000436759,;PLEC,missense_variant,p.Arg3253His,ENST00000354958,;PLEC,downstream_gene_variant,,ENST00000527303,;	10405	61	133	SUCCESS
MRPL15	29088	.	GRCh37	8	55047918	55047918	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	290	116	475	0	ENST00000260102.4:c.75C>T	p.Ala25=	p.A25=	ENST00000260102	NM_014175.3	25	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6158.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCAACTT	NONE	.	.	hmmpanther:PTHR12934	.	.	ENSP00000260102	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000260102	Transcript	.	.	ENSG00000137547	14054	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM15_HUMAN	MRPL15	HGNC	E5RIZ4_HUMAN	.	UPI0000035FCA	SNV	MRPL15,synonymous_variant,p.%3D,ENST00000260102,;MRPL15,synonymous_variant,p.%3D,ENST00000519831,;MRPL15,upstream_gene_variant,,ENST00000522521,;	149	475	406	SUCCESS
NCOA2	10499	.	GRCh37	8	71128948	71128948	+	synonymous_variant	Silent	SNP	G	G	A	rs1465537512	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	25	105	0	ENST00000452400.2:c.33C>T	p.Pro11=	p.P11=	ENST00000452400	NM_006540.2	11	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47872.1	33	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGGGTC	NONE	.	.	hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000399968	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000452400	Transcript	.	.	ENSG00000140396	7669	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NCOA2_HUMAN	NCOA2	HGNC	.	.	UPI000012FE42	SNV	NCOA2,synonymous_variant,p.%3D,ENST00000519724,;NCOA2,synonymous_variant,p.%3D,ENST00000452400,;NCOA2,downstream_gene_variant,,ENST00000520416,;NCOA2,synonymous_variant,p.%3D,ENST00000518287,;	215	105	182	SUCCESS
MMP16	4325	.	GRCh37	8	89209504	89209504	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765641487	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	24	133	0	ENST00000286614.6:c.164C>T	p.Pro55Leu	p.P55L	ENST00000286614	NM_005941.4	55	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6246.1	164	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCGGTGGA	NONE	byFrequency	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Pfam_domain:PF01471,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	.	.	ENSP00000286614	.	2/10	.	.	.	.	.	.	.	.	rs765641487	2/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.544)	.	deleterious(0.03)	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,missense_variant,p.Pro55Leu,ENST00000286614,;MMP16,missense_variant,p.Pro72Leu,ENST00000522726,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;MMP16,non_coding_transcript_exon_variant,,ENST00000520568,;	446	133	185	SUCCESS
ZNF483	158399	.	GRCh37	9	114304927	114304927	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	38	107	0	ENST00000309235.5:c.1712G>C	p.Arg571Thr	p.R571T	ENST00000309235	NM_133464.2	571	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS35106.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAGAATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF128,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000311679	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000309235	Transcript	.	.	ENSG00000173258	23384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	tolerated(0.24)	.	ZN483_HUMAN	ZNF483	HGNC	.	.	UPI00001C1EBF	SNV	ZNF483,missense_variant,p.Arg571Thr,ENST00000309235,;ZNF483,intron_variant,,ENST00000358151,;ZNF483,downstream_gene_variant,,ENST00000355824,;	1870	107	75	SUCCESS
AK8	158067	.	GRCh37	9	135753738	135753738	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	72	0	ENST00000298545.3:c.-96G>T		p.*32*	ENST00000298545	NM_152572.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6955.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCTCCGC	NONE	.	547	.	.	.	ENSP00000298546	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000350499	Transcript	.	.	ENSG00000165698	1367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI009_HUMAN	C9orf9	HGNC	.	.	UPI0000049CA1	SNV	C9orf9,5_prime_UTR_variant,,ENST00000372136,;AK8,5_prime_UTR_variant,,ENST00000298545,;C9orf9,upstream_gene_variant,,ENST00000350499,;C9orf9,upstream_gene_variant,,ENST00000356311,;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;	.	72	46	SUCCESS
NDUFB6	4712	.	GRCh37	9	32572931	32572931	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	833	282	1373	0	ENST00000379847.3:c.128del	p.Met43ArgfsTer44	p.M43Rfs*44	ENST00000379847	NM_002493.4	43	aTg/ag	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS6528.1	128	VARSCANI*|PINDEL	.	TTCTCCATAGGC	NONE	.	.	Pfam_domain:PF09782,hmmpanther:PTHR15083	.	.	ENSP00000369176	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000379847	Transcript	.	.	ENSG00000165264	7701	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUB6_HUMAN	NDUFB6	HGNC	.	.	UPI00000012D5	deletion	NDUFB6,frameshift_variant,p.Met43ArgfsTer44,ENST00000350021,;NDUFB6,frameshift_variant,p.Met43ArgfsTer44,ENST00000379847,;GVQW1,downstream_gene_variant,,ENST00000451672,;	230	1373	1115	SUCCESS
CYLC1	1538	.	GRCh37	X	83128066	83128066	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	79	626	0	ENST00000329312.4:c.350A>G	p.Lys117Arg	p.K117R	ENST00000329312	NM_021118.2	117	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS35341.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAAGTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.263)	.	tolerated(0.08)	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,missense_variant,p.Lys117Arg,ENST00000329312,;	387	626	262	SUCCESS
COL13A1	1305	.	GRCh37	10	71665571	71665571	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768307635	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	49	147	0	ENST00000398978.3:c.944G>A	p.Gly315Asp	p.G315D	ENST00000398978	NM_001130103.1	315	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS44419.1	944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGCCGGA	NONE	.	.	hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000381949	.	17/40	.	.	.	.	.	.	.	.	rs768307635	17/40	PASS	ENST00000398978	Transcript	.	.	ENSG00000197467	2190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CODA1_HUMAN	COL13A1	HGNC	Q9UP45_HUMAN	.	UPI000046FD72	SNV	COL13A1,missense_variant,p.Gly293Asp,ENST00000517713,;COL13A1,missense_variant,p.Gly293Asp,ENST00000354547,;COL13A1,missense_variant,p.Gly315Asp,ENST00000398978,;COL13A1,missense_variant,p.Gly286Asp,ENST00000398964,;COL13A1,missense_variant,p.Gly315Asp,ENST00000398971,;COL13A1,missense_variant,p.Gly293Asp,ENST00000398966,;COL13A1,missense_variant,p.Gly258Asp,ENST00000398969,;COL13A1,missense_variant,p.Gly315Asp,ENST00000398973,;COL13A1,missense_variant,p.Gly264Asp,ENST00000520133,;COL13A1,missense_variant,p.Gly258Asp,ENST00000520267,;COL13A1,missense_variant,p.Gly296Asp,ENST00000522165,;COL13A1,missense_variant,p.Gly296Asp,ENST00000398968,;COL13A1,missense_variant,p.Gly303Asp,ENST00000398974,;COL13A1,missense_variant,p.Gly315Asp,ENST00000356340,;COL13A1,missense_variant,p.Gly315Asp,ENST00000398972,;COL13A1,missense_variant,p.Gly293Asp,ENST00000357811,;COL13A1,missense_variant,p.Gly324Asp,ENST00000479733,;	1436	147	133	SUCCESS
SLIT1	6585	.	GRCh37	10	98766408	98766408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	50	143	0	ENST00000266058.4:c.3411G>T	p.Gln1137His	p.Q1137H	ENST00000266058	NM_003061.2	1137	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7453.1	3411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCTGGCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,Gene3D:2.60.120.200,SMART_domains:SM00181,SMART_domains:SM00274,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000266058	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Gln1137His,ENST00000371070,;SLIT1,missense_variant,p.Gln1137His,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;	3657	143	133	SUCCESS
SLC35F2	54733	.	GRCh37	11	107675444	107675444	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	19	148	0	ENST00000525815.1:c.784G>A	p.Ala262Thr	p.A262T	ENST00000525815	NM_017515.4	262	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS41709.1	784	MUTECT|MUSE|VARSCANS	.	CATACCAATTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Pfam_domain:PF06027	.	.	ENSP00000436785	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000525815	Transcript	.	.	ENSG00000110660	23615	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.044)	.	tolerated(0.43)	.	S35F2_HUMAN	SLC35F2	HGNC	E9PKZ2_HUMAN,B4DUB9_HUMAN	.	UPI0000074335	SNV	SLC35F2,missense_variant,p.Ala262Thr,ENST00000525815,;SLC35F2,missense_variant,p.Ala262Thr,ENST00000429869,;SLC35F2,missense_variant,p.Ala215Thr,ENST00000375682,;SLC35F2,missense_variant,p.Ala262Thr,ENST00000525071,;SLC35F2,missense_variant,p.Ala114Thr,ENST00000265836,;SLC35F2,splice_region_variant,,ENST00000533664,;SLC35F2,intron_variant,,ENST00000532513,;SLC35F2,downstream_gene_variant,,ENST00000524991,;	1205	148	207	SUCCESS
OR8G1	26494	.	GRCh37	11	124120708	124120708	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	70	0	ENST00000341493.2:c.286G>T	p.Glu96Ter	p.E96*	ENST00000341493	NM_001002905.1	96	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	.	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGAATGC	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF73,PROSITE_profiles:PS50262	.	.	ENSP00000476313	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000341493	Transcript	.	.	ENSG00000197849	8484	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OR8G1	HGNC	.	.	UPI00004565A2	SNV	OR8G1,stop_gained,p.Glu96Ter,ENST00000341493,;OR8G1,stop_gained,p.Glu96Ter,ENST00000534473,;	286	70	81	SUCCESS
GTF2H1	2965	.	GRCh37	11	18382210	18382210	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	4	66	0	ENST00000265963.4:c.1516T>A	p.Cys506Ser	p.C506S	ENST00000265963	NM_005316.3	506	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS7838.1	1516	MUTECT|MUSE	.	AGCTCTGTCCA	NONE	.	.	hmmpanther:PTHR12856	.	.	ENSP00000265963	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000265963	Transcript	.	.	ENSG00000110768	4655	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.56)	.	TF2H1_HUMAN	GTF2H1	HGNC	F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN	.	UPI0000136C8A	SNV	GTF2H1,missense_variant,p.Cys390Ser,ENST00000534641,;GTF2H1,missense_variant,p.Cys96Ser,ENST00000526630,;GTF2H1,missense_variant,p.Cys194Ser,ENST00000530496,;GTF2H1,missense_variant,p.Cys506Ser,ENST00000265963,;GTF2H1,missense_variant,p.Cys506Ser,ENST00000453096,;GTF2H1,non_coding_transcript_exon_variant,,ENST00000418116,;GTF2H1,downstream_gene_variant,,ENST00000526282,;GTF2H1,downstream_gene_variant,,ENST00000528427,;	1676	66	101	SUCCESS
THRSP	7069	.	GRCh37	11	77775039	77775039	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147579530	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	66	0	ENST00000281030.2:c.112C>T	p.Arg38Trp	p.R38W	ENST00000281030	NM_003251.3	38	Cgg/Tgg	0	T:0.0007	.	.	.	.	T	R/W	protein_coding	YES	CCDS8256.1	112	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCGGGAC	NONE	byCluster	.	hmmpanther:PTHR14315:SF13,hmmpanther:PTHR14315,Pfam_domain:PF07084	.	T:0	ENSP00000281030	.	1/2	.	.	.	.	.	.	.	.	rs147579530,COSM368023,COSM690568	1/2	PASS	ENST00000281030	Transcript	.	.	ENSG00000151365	11800	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.092)	.	tolerated(0.05)	0,1,1	THRSP_HUMAN	THRSP	HGNC	.	.	UPI00000015FF	SNV	THRSP,missense_variant,p.Arg38Trp,ENST00000281030,;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2-KCTD14,intron_variant,,ENST00000530054,;NDUFC2,downstream_gene_variant,,ENST00000281031,;NDUFC2,downstream_gene_variant,,ENST00000527806,;	133	66	82	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42858348	42858348	+	synonymous_variant	Silent	SNP	C	C	T	rs762118167	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	118	0	ENST00000345127.3:c.1488G>A	p.Arg496=	p.R496=	ENST00000345127	NM_153026.2	496	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8742.1	1488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCCTTCT	NONE	byFrequency	.	hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14	.	.	ENSP00000401060	.	7/8	.	.	.	.	.	.	.	.	rs762118167	7/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,synonymous_variant,p.%3D,ENST00000345127,;PRICKLE1,synonymous_variant,p.%3D,ENST00000455697,;PRICKLE1,synonymous_variant,p.%3D,ENST00000445766,;PRICKLE1,synonymous_variant,p.%3D,ENST00000552240,;PRICKLE1,synonymous_variant,p.%3D,ENST00000548696,;PRICKLE1,downstream_gene_variant,,ENST00000547113,;PRICKLE1,downstream_gene_variant,,ENST00000551050,;PRICKLE1,downstream_gene_variant,,ENST00000552108,;PPHLN1,downstream_gene_variant,,ENST00000317560,;RP11-328C8.4,intron_variant,,ENST00000547824,;	1774	118	102	SUCCESS
LRIG3	121227	.	GRCh37	12	59268266	59268266	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758620273	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	29	96	1	ENST00000320743.3:c.2785A>G	p.Met929Val	p.M929V	ENST00000320743	NM_153377.4	929	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8960.1	2785	RADIA|MUTECT|MUSE|VARSCANS	.	ATACATAGGGC	NONE	byFrequency	.	.	.	.	ENSP00000326759	.	17/19	.	.	.	.	.	.	.	.	rs758620273	17/19	PASS	ENST00000320743	Transcript	.	.	ENSG00000139263	30991	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	LRIG3_HUMAN	LRIG3	HGNC	F8VYZ5_HUMAN	.	UPI0000035BB5	SNV	LRIG3,missense_variant,p.Met869Val,ENST00000379141,;LRIG3,missense_variant,p.Met929Val,ENST00000320743,;LRIG3,missense_variant,p.Met31Val,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000552646,;	3072	97	197	SUCCESS
MFAP5	8076	.	GRCh37	12	8803187	8803187	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	7	119	0	ENST00000359478.2:c.248-2A>C		p.X83_splice	ENST00000359478	NM_003480.2	83		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8595.1	.	MUTECT|MUSE	.	CACTCTGAGGA	NONE	.	.	.	.	.	ENSP00000352455	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359478	Transcript	.	.	ENSG00000197614	29673	.	.	HIGH	7/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MFAP5_HUMAN	MFAP5	HGNC	H0YGS3_HUMAN,F5H1C0_HUMAN	.	UPI000012F034	SNV	MFAP5,splice_acceptor_variant,,ENST00000359478,;MFAP5,splice_acceptor_variant,,ENST00000543369,;MFAP5,splice_acceptor_variant,,ENST00000433590,;MFAP5,splice_acceptor_variant,,ENST00000540087,;MFAP5,splice_acceptor_variant,,ENST00000535411,;MFAP5,splice_acceptor_variant,,ENST00000544889,;MFAP5,splice_acceptor_variant,,ENST00000396549,;MFAP5,intron_variant,,ENST00000535336,;MFAP5,upstream_gene_variant,,ENST00000543467,;MFAP5,splice_acceptor_variant,,ENST00000538694,;MFAP5,downstream_gene_variant,,ENST00000538107,;MFAP5,splice_acceptor_variant,,ENST00000537009,;MFAP5,splice_acceptor_variant,,ENST00000544211,;MFAP5,splice_acceptor_variant,,ENST00000534833,;MFAP5,downstream_gene_variant,,ENST00000537128,;	.	120	111	SUCCESS
ATP2B1	490	.	GRCh37	12	90015489	90015489	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	55	0	ENST00000428670.3:c.1424A>C	p.Asp475Ala	p.D475A	ENST00000428670		475	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS9035.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATCTGAA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,PROSITE_patterns:PS00154,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01517,Superfamily_domains:SSF56784,Prints_domain:PR00119	.	.	ENSP00000392043	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000428670	Transcript	.	.	ENSG00000070961	814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AT2B1_HUMAN	ATP2B1	HGNC	Q3L582_HUMAN	.	UPI000002A436	SNV	ATP2B1,missense_variant,p.Asp475Ala,ENST00000428670,;ATP2B1,missense_variant,p.Asp218Ala,ENST00000393164,;ATP2B1,missense_variant,p.Asp475Ala,ENST00000359142,;ATP2B1,missense_variant,p.Asp475Ala,ENST00000261173,;ATP2B1,missense_variant,p.Asp475Ala,ENST00000348959,;	1881	55	58	SUCCESS
KLF5	688	.	GRCh37	13	73649897	73649901	+	frameshift_variant	Frame_Shift_Del	DEL	GATCG	GATCG	-	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	GATCG	GATCG	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	53	0	ENST00000377687.4:c.1250_1254del	p.Ser417Ter	p.S417*	ENST00000377687	NM_001730.3	416	cGATCG/c	0	.	.	.	.	.	-	RS/X	protein_coding	YES	CCDS9448.1	1247-1251	VARSCANI*|PINDEL	.	TCGCGCGATCGGATGA	BUFFER|p.E419Q|c.1255G>C|5	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23223:SF144,hmmpanther:PTHR23223,PROSITE_profiles:PS50157	.	.	ENSP00000366915	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377687	Transcript	.	.	ENSG00000102554	6349	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLF5_HUMAN	KLF5	HGNC	Q5T6X2_HUMAN,B4DL96_HUMAN,A2TJX0_HUMAN	.	UPI0000000C89	deletion	KLF5,frameshift_variant,p.Ser417Ter,ENST00000377687,;KLF5,frameshift_variant,p.Ser326Ter,ENST00000539231,;KLF5,non_coding_transcript_exon_variant,,ENST00000464404,;	1783-1787	53	57	SUCCESS
PPP1R13B	23368	.	GRCh37	14	104216135	104216136	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1223655873	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	77	0	ENST00000202556.9:c.964dup	p.Ile322AsnfsTer64	p.I322Nfs*64	ENST00000202556	NM_015316.2	322	att/aAtt	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS41997.1	964-965	INDELOCATOR|VARSCANI	.	CCTGAATTTTT	NONE	.	.	hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5	.	.	ENSP00000202556	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000202556	Transcript	.	.	ENSG00000088808	14950	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASPP1_HUMAN	PPP1R13B	HGNC	G3V5J1_HUMAN	.	UPI000049DDC7	insertion	PPP1R13B,frameshift_variant,p.Ile322AsnfsTer64,ENST00000202556,;PPP1R13B,upstream_gene_variant,,ENST00000423488,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,upstream_gene_variant,,ENST00000555708,;PPP1R13B,upstream_gene_variant,,ENST00000555183,;PPP1R13B,downstream_gene_variant,,ENST00000554106,;PPP1R13B,upstream_gene_variant,,ENST00000555991,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,upstream_gene_variant,,ENST00000556597,;	1247-1248	77	74	SUCCESS
FANCM	57697	.	GRCh37	14	45605599	45605599	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	36	107	0	ENST00000267430.5:c.365C>T	p.Ala122Val	p.A122V	ENST00000267430	NM_020937.2	122	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32070.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGCCGTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51192,hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487	.	.	ENSP00000267430	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.189)	.	deleterious(0)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Ala122Val,ENST00000556036,;FANCM,missense_variant,p.Ala122Val,ENST00000542564,;FANCM,missense_variant,p.Ala122Val,ENST00000267430,;FKBP3,upstream_gene_variant,,ENST00000396062,;FKBP3,upstream_gene_variant,,ENST00000216330,;FANCM,upstream_gene_variant,,ENST00000554030,;FKBP3,upstream_gene_variant,,ENST00000557324,;	450	107	149	SUCCESS
C14orf39	317761	.	GRCh37	14	60950469	60950469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	8	91	0	ENST00000321731.3:c.173C>T	p.Thr58Ile	p.T58I	ENST00000321731	NM_174978.2	58	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS9746.1	173	MUTECT|MUSE	.	CATCTGTTGCA	NONE	.	.	.	.	.	ENSP00000324920	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.13)	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,missense_variant,p.Thr29Ile,ENST00000555476,;C14orf39,missense_variant,p.Thr58Ile,ENST00000556799,;C14orf39,missense_variant,p.Thr58Ile,ENST00000321731,;C14orf39,intron_variant,,ENST00000557138,;	333	91	115	SUCCESS
DAPK2	23604	.	GRCh37	15	64275864	64275864	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs193279006	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	44	0	ENST00000261891.3:c.182C>A	p.Ala61Glu	p.A61E	ENST00000261891		61	gCg/gAg	0	.	A:0.0008	.	A:0.0014	.	T	A/E	protein_coding	YES	CCDS10188.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCGCCCGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22964,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	A:0	.	ENSP00000261891	A:0	2/11	.	.	.	.	.	.	.	.	rs193279006,COSM3932128	2/11	PASS	ENST00000261891	Transcript	.	A:0.0004	ENSG00000035664	2675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.569)	A:0	deleterious(0.01)	0,1	DAPK2_HUMAN	DAPK2	HGNC	H0YKW8_HUMAN	.	UPI000006DFD1	SNV	DAPK2,missense_variant,p.Ala61Glu,ENST00000559306,;DAPK2,missense_variant,p.Ala61Glu,ENST00000457488,;DAPK2,missense_variant,p.Ala61Glu,ENST00000558069,;DAPK2,missense_variant,p.Ala61Glu,ENST00000261891,;DAPK2,non_coding_transcript_exon_variant,,ENST00000558482,;DAPK2,non_coding_transcript_exon_variant,,ENST00000559897,;DAPK2,missense_variant,p.Ala61Glu,ENST00000559007,;DAPK2,3_prime_UTR_variant,,ENST00000561162,;	188	44	52	SUCCESS
DNAH3	55567	.	GRCh37	16	21123354	21123354	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1221722019	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	53	0	ENST00000261383.3:c.1880C>T	p.Ala627Val	p.A627V	ENST00000261383	NM_017539.1	627	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10594.1	1880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACGCAGCG	NONE	.	.	hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	13/62	.	.	.	.	.	.	.	.	.	13/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Ala627Val,ENST00000261383,;DNAH3,missense_variant,p.Ala627Val,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	1880	53	66	SUCCESS
PAGR1	79447	.	GRCh37	16	29828159	29828159	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	15	81	0	ENST00000320330.6:c.313T>A	p.Trp105Arg	p.W105R	ENST00000320330		105	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS10655.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTGGATG	NONE	.	.	Pfam_domain:PF15364	.	.	ENSP00000326519	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000320330	Transcript	.	.	ENSG00000185928	28707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	PAGR1_HUMAN	PAGR1	HGNC	.	.	UPI000006FAEB	SNV	PAGR1,missense_variant,p.Trp105Arg,ENST00000320330,;PAGR1,missense_variant,p.Trp105Arg,ENST00000609618,;MVP,upstream_gene_variant,,ENST00000566066,;MAZ,downstream_gene_variant,,ENST00000562594,;MVP,upstream_gene_variant,,ENST00000357402,;PRRT2,downstream_gene_variant,,ENST00000562148,;PRRT2,downstream_gene_variant,,ENST00000567659,;MVP,upstream_gene_variant,,ENST00000452209,;MVP,upstream_gene_variant,,ENST00000395353,;PRRT2,downstream_gene_variant,,ENST00000572820,;MVP,upstream_gene_variant,,ENST00000563558,;PRRT2,downstream_gene_variant,,ENST00000300797,;MVP,upstream_gene_variant,,ENST00000570234,;MVP,upstream_gene_variant,,ENST00000565164,;PRRT2,downstream_gene_variant,,ENST00000358758,;MVP,upstream_gene_variant,,ENST00000563915,;AC009133.20,intron_variant,,ENST00000569039,;AC009133.12,downstream_gene_variant,,ENST00000569809,;AC009133.14,upstream_gene_variant,,ENST00000569981,;AC009133.12,downstream_gene_variant,,ENST00000564980,;PRRT2,downstream_gene_variant,,ENST00000567551,;MAZ,downstream_gene_variant,,ENST00000568516,;MVP,upstream_gene_variant,,ENST00000565830,;MVP,upstream_gene_variant,,ENST00000569887,;MVP,upstream_gene_variant,,ENST00000566859,;MVP,upstream_gene_variant,,ENST00000563096,;MVP,upstream_gene_variant,,ENST00000562463,;PAGR1,upstream_gene_variant,,ENST00000562285,;	875	81	87	SUCCESS
TK2	7084	.	GRCh37	16	66583546	66583546	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	36	0	ENST00000299697.7:c.250+295C>T		p.*84*	ENST00000299697	NM_001172644.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10805.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCGGGACA	NONE	.	.	.	.	.	ENSP00000414334	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451102	Transcript	.	.	ENSG00000166548	11831	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KITM_HUMAN	TK2	HGNC	J3QL12_HUMAN,J3KS73_HUMAN,B4DZK7_HUMAN	.	UPI00001AECBD	SNV	TK2,5_prime_UTR_variant,,ENST00000527800,;TK2,5_prime_UTR_variant,,ENST00000525974,;TK2,intron_variant,,ENST00000563369,;TK2,intron_variant,,ENST00000569718,;TK2,intron_variant,,ENST00000527284,;TK2,intron_variant,,ENST00000299697,;TK2,intron_variant,,ENST00000544898,;TK2,intron_variant,,ENST00000563478,;TK2,intron_variant,,ENST00000417693,;TK2,intron_variant,,ENST00000451102,;TK2,intron_variant,,ENST00000562484,;TK2,intron_variant,,ENST00000564917,;TK2,intron_variant,,ENST00000545043,;CKLF-CMTM1,upstream_gene_variant,,ENST00000532838,;CKLF,upstream_gene_variant,,ENST00000417030,;CKLF,upstream_gene_variant,,ENST00000351137,;CKLF,upstream_gene_variant,,ENST00000264001,;CKLF-CMTM1,upstream_gene_variant,,ENST00000527729,;CKLF,upstream_gene_variant,,ENST00000345436,;CKLF,upstream_gene_variant,,ENST00000362093,;Y_RNA,non_coding_transcript_exon_variant,,ENST00000563151,;Y_RNA,upstream_gene_variant,,ENST00000411222,;TK2,upstream_gene_variant,,ENST00000565729,;CKLF,upstream_gene_variant,,ENST00000563092,;TK2,intron_variant,,ENST00000567357,;CKLF-CMTM1,upstream_gene_variant,,ENST00000527845,;CKLF,upstream_gene_variant,,ENST00000534692,;CKLF,upstream_gene_variant,,ENST00000526149,;	.	36	20	SUCCESS
NF1	4763	.	GRCh37	17	29587388	29587388	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	49	0	ENST00000358273.4:c.4436del	p.Phe1479SerfsTer4	p.F1479Sfs*4	ENST00000358273	NM_001042492.2	1478	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS42292.1	4432	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAGGTTTTTC	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00323,Gene3D:1.10.494.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	34/58	.	.	.	.	.	.	.	.	.	34/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	deletion	NF1,frameshift_variant,p.Phe1124SerfsTer4,ENST00000456735,;NF1,frameshift_variant,p.Phe1479SerfsTer4,ENST00000358273,;NF1,frameshift_variant,p.Phe1458SerfsTer4,ENST00000356175,;NF1,frameshift_variant,p.Phe1492SerfsTer4,ENST00000579081,;NF1,splice_region_variant,,ENST00000466819,;NF1,splice_region_variant,,ENST00000479614,;NF1,splice_region_variant,,ENST00000493220,;	4815	49	54	SUCCESS
PRKCA	5578	.	GRCh37	17	64298965	64298965	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	13	69	0	ENST00000413366.3:c.-5G>A		p.*2*	ENST00000413366	NM_002737.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11664.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGGACCA	NONE	.	.	.	.	.	ENSP00000408695	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000413366	Transcript	.	.	ENSG00000154229	9393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KPCA_HUMAN	PRKCA	HGNC	L7RSM7_HUMAN	.	UPI000013DD98	SNV	PRKCA,5_prime_UTR_variant,,ENST00000413366,;PRKCA,non_coding_transcript_exon_variant,,ENST00000583361,;PRKCA,5_prime_UTR_variant,,ENST00000578063,;PRKCA,upstream_gene_variant,,ENST00000583775,;PRKCA,upstream_gene_variant,,ENST00000284384,;	22	69	110	SUCCESS
PRKCA	5578	.	GRCh37	17	64302214	64302214	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	52	0	ENST00000413366.3:c.174G>C	p.Trp58Cys	p.W58C	ENST00000413366	NM_002737.2	58	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS11664.1	174	MUTECT|MUSE|VARSCANS	.	TTCAGGGGGTT	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR24357:SF65,hmmpanther:PTHR24357,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000550,SMART_domains:SM00109,Superfamily_domains:SSF57889,Prints_domain:PR00008	.	.	ENSP00000408695	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000413366	Transcript	.	.	ENSG00000154229	9393	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	KPCA_HUMAN	PRKCA	HGNC	L7RSM7_HUMAN	.	UPI000013DD98	SNV	PRKCA,missense_variant,p.Trp58Cys,ENST00000413366,;PRKCA,splice_region_variant,,ENST00000583361,;PRKCA,missense_variant,p.Trp58Cys,ENST00000578063,;PRKCA,missense_variant,p.Trp56Cys,ENST00000284384,;PRKCA,splice_region_variant,,ENST00000583775,;	200	52	66	SUCCESS
ZBTB45	84878	.	GRCh37	19	59027809	59027809	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs971993250	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	34	0	ENST00000354590.3:c.1232C>T	p.Thr411Met	p.T411M	ENST00000354590	NM_032792.2	411	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS12984.1	1232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACGTCTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF460,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000469089	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000594051	Transcript	.	.	ENSG00000119574	23715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ZBT45_HUMAN	ZBTB45	HGNC	Q8NDR3_HUMAN,M0QZ57_HUMAN	.	UPI00000739B8	SNV	ZBTB45,missense_variant,p.Thr411Met,ENST00000594051,;ZBTB45,missense_variant,p.Thr411Met,ENST00000354590,;ZBTB45,missense_variant,p.Thr411Met,ENST00000600990,;ZBTB45,downstream_gene_variant,,ENST00000600130,;ZBTB45,downstream_gene_variant,,ENST00000596739,;SLC27A5,upstream_gene_variant,,ENST00000601355,;SLC27A5,upstream_gene_variant,,ENST00000263093,;SLC27A5,upstream_gene_variant,,ENST00000593745,;	1713	34	57	SUCCESS
EVI5L	115704	.	GRCh37	19	7911402	7911402	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs369671622	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	71	0	ENST00000270530.4:c.-27C>T		p.*9*	ENST00000270530	NM_145245.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS54209.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCCGCTCA	NONE	byFrequency|byCluster	27	.	.	T:0.0001	ENSP00000445905	.	.	.	.	.	.	.	.	.	.	rs369671622	.	PASS	ENST00000538904	Transcript	.	.	ENSG00000142459	30464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EVI5L_HUMAN	EVI5L	HGNC	.	.	UPI00019145BF	SNV	EVI5L,5_prime_UTR_variant,,ENST00000270530,;EVI5L,upstream_gene_variant,,ENST00000538904,;EVI5L,upstream_gene_variant,,ENST00000599036,;EVI5L,upstream_gene_variant,,ENST00000597440,;EVI5L,upstream_gene_variant,,ENST00000601984,;	.	71	52	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	51	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	51	57	SUCCESS
LCE3D	84648	.	GRCh37	1	152552238	152552238	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199832759	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	58	146	0	ENST00000368787.3:c.175C>T	p.Arg59Cys	p.R59C	ENST00000368787	NM_032563.1	59	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS1014.1	175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGCCTGT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF43,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000357776	.	2/2	.	.	.	.	.	.	.	.	rs199832759	2/2	PASS	ENST00000368787	Transcript	.	.	ENSG00000163202	16615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	LCE3D_HUMAN	LCE3D	HGNC	.	.	UPI000006EC48	SNV	LCE3D,missense_variant,p.Arg59Cys,ENST00000368787,;	232	146	229	SUCCESS
PMVK	10654	.	GRCh37	1	154898884	154898884	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150445298	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	47	1	ENST00000368467.3:c.388C>T	p.Arg130Cys	p.R130C	ENST00000368467	NM_006556.3	130	Cgc/Tgc	0	A:0.0005	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS1073.1	388	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCGGACCG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,TIGRFAM_domain:TIGR01223,Gene3D:3.40.50.300,PIRSF_domain:PIRSF036639,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000357452	A:0	4/5	.	.	.	.	.	.	.	.	rs150445298,COSM424009	4/5	common_in_exac	ENST00000368467	Transcript	.	A:0.0070	ENSG00000163344	9141	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.999)	A:0.0358	deleterious(0)	0,1	PMVK_HUMAN	PMVK	HGNC	Q6FGV9_HUMAN	.	UPI000013E263	SNV	PMVK,missense_variant,p.Arg130Cys,ENST00000368467,;	694	48	64	SUCCESS
BRINP2	57795	.	GRCh37	1	177250365	177250365	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	87	0	ENST00000361539.4:c.2053G>T	p.Val685Phe	p.V685F	ENST00000361539	NM_021165.2	685	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1320.1	2053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGTCTTT	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	8/8	.	.	.	.	.	.	.	.	COSM1661778	8/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Val685Phe,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	2365	87	54	SUCCESS
TRAF3IP3	80342	.	GRCh37	1	209953899	209953899	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	15	97	0	ENST00000367024.1:c.1397T>G	p.Leu466Arg	p.L466R	ENST00000367024		466	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS1490.2	1397	RADIA|MUTECT|MUSE|VARSCANS	.	GGATCTCAGAG	BUFFER|p.L450L|c.1348C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18889:SF10,hmmpanther:PTHR18889,Superfamily_domains:SSF57997	.	.	ENSP00000355991	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000367024	Transcript	.	.	ENSG00000009790	30766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.576)	.	deleterious(0)	.	T3JAM_HUMAN	TRAF3IP3	HGNC	C9JXB3_HUMAN,C9J0C0_HUMAN	.	UPI00005190E1	SNV	TRAF3IP3,missense_variant,p.Leu466Arg,ENST00000367024,;TRAF3IP3,missense_variant,p.Leu466Arg,ENST00000367025,;TRAF3IP3,missense_variant,p.Leu446Arg,ENST00000010338,;TRAF3IP3,missense_variant,p.Leu446Arg,ENST00000367026,;TRAF3IP3,intron_variant,,ENST00000477431,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000487271,;C1orf74,downstream_gene_variant,,ENST00000294811,;TRAF3IP3,intron_variant,,ENST00000480569,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,upstream_gene_variant,,ENST00000467830,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000460314,;TRAF3IP3,intron_variant,,ENST00000471368,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000474496,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;	1913	97	147	SUCCESS
LEFTY1	10637	.	GRCh37	1	226075235	226075235	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1033970449	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	53	148	0	ENST00000272134.5:c.601G>A	p.Val201Met	p.V201M	ENST00000272134	NM_020997.3	201	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS1548.1	601	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CGACACCTGTA	NONE	.	.	hmmpanther:PTHR11848:SF7,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF037402,Prints_domain:PR01427	.	.	ENSP00000272134	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000272134	Transcript	.	.	ENSG00000243709	6552	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	LFTY1_HUMAN	LEFTY1	HGNC	.	.	UPI000003721B	SNV	LEFTY1,missense_variant,p.Val201Met,ENST00000272134,;RP4-559A3.7,missense_variant,p.Gly309Asp,ENST00000432920,;LEFTY1,downstream_gene_variant,,ENST00000492457,;	681	148	176	SUCCESS
DIRAS3	9077	.	GRCh37	1	68512917	68512917	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768170308	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	9	56	0	ENST00000370981.1:c.64G>A	p.Ala22Thr	p.A22T	ENST00000370981		22	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS641.1	64	MUTECT|MUSE	.	CAGGGCGGGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000360020	.	4/4	.	.	.	.	.	.	.	.	rs768170308,COSM3689820	4/4	PASS	ENST00000370981	Transcript	.	.	ENSG00000162595	687	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.001)	.	tolerated(1)	0,1	DIRA3_HUMAN	DIRAS3	HGNC	.	.	UPI0000133893	SNV	DIRAS3,missense_variant,p.Ala22Thr,ENST00000370981,;DIRAS3,missense_variant,p.Ala22Thr,ENST00000395201,;GNG12-AS1,intron_variant,,ENST00000413628,;GNG12-AS1,intron_variant,,ENST00000420587,;ARL5AP3,downstream_gene_variant,,ENST00000439327,;RP4-609E1.2,downstream_gene_variant,,ENST00000435784,;	701	56	122	SUCCESS
SLC24A3	57419	.	GRCh37	20	19679226	19679226	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	42	0	ENST00000328041.6:c.1621G>A	p.Ala541Thr	p.A541T	ENST00000328041	NM_020689.3	541	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13140.1	1621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGCTGTG	NONE	.	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF22,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000333519	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000328041	Transcript	.	.	ENSG00000185052	10977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	NCKX3_HUMAN	SLC24A3	HGNC	.	.	UPI00001A8BFD	SNV	SLC24A3,missense_variant,p.Ala541Thr,ENST00000328041,;RP4-718D20.3,upstream_gene_variant,,ENST00000609846,;RP4-718D20.3,upstream_gene_variant,,ENST00000600889,;RP4-718D20.3,upstream_gene_variant,,ENST00000609610,;RP4-718D20.3,upstream_gene_variant,,ENST00000598694,;RP4-718D20.3,upstream_gene_variant,,ENST00000608476,;RP4-718D20.3,upstream_gene_variant,,ENST00000593770,;RP4-718D20.3,upstream_gene_variant,,ENST00000435992,;RP4-718D20.3,upstream_gene_variant,,ENST00000608187,;	1818	42	57	SUCCESS
CDK5RAP1	51654	.	GRCh37	20	31973469	31973469	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1339486441	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	22	76	0	ENST00000357886.4:c.863A>G	p.Lys288Arg	p.K288R	ENST00000357886		288	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13219.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTTCTTC	NONE	.	.	Superfamily_domains:SSF102114,SMART_domains:SM00729,TIGRFAM_domain:TIGR00089,Gene3D:2qgqB01,Pfam_domain:PF04055,TIGRFAM_domain:TIGR01574,hmmpanther:PTHR11918:SF48,hmmpanther:PTHR11918,HAMAP:MF_01864	.	.	ENSP00000217372	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000346416	Transcript	.	.	ENSG00000101391	15880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.51)	.	CK5P1_HUMAN	CDK5RAP1	HGNC	Q53H36_HUMAN	.	UPI000004495E	SNV	CDK5RAP1,missense_variant,p.Lys288Arg,ENST00000357886,;CDK5RAP1,missense_variant,p.Lys288Arg,ENST00000544843,;CDK5RAP1,missense_variant,p.Lys198Arg,ENST00000473997,;CDK5RAP1,missense_variant,p.Lys288Arg,ENST00000339269,;CDK5RAP1,missense_variant,p.Lys288Arg,ENST00000346416,;CDK5RAP1,intron_variant,,ENST00000427097,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000460043,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000488723,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000477105,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000461356,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000471264,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000498525,;CDK5RAP1,intron_variant,,ENST00000481964,;CDK5RAP1,intron_variant,,ENST00000496381,;CDK5RAP1,intron_variant,,ENST00000482967,;	1017	76	104	SUCCESS
RASSF2	9770	.	GRCh37	20	4771204	4771204	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778467935	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	45	0	ENST00000379376.2:c.430C>T	p.Arg144Cys	p.R144C	ENST00000379376	NM_170774.1	144	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13083.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGTGTGC	NONE	byFrequency	.	hmmpanther:PTHR22738:SF14,hmmpanther:PTHR22738	.	.	ENSP00000368710	.	7/12	.	.	.	.	.	.	.	.	rs778467935	7/12	PASS	ENST00000379400	Transcript	.	.	ENSG00000101265	9883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	.	deleterious(0.01)	.	RASF2_HUMAN	RASSF2	HGNC	.	.	UPI0000001C0A	SNV	RASSF2,missense_variant,p.Arg144Cys,ENST00000379376,;RASSF2,missense_variant,p.Arg144Cys,ENST00000379400,;RASSF2,non_coding_transcript_exon_variant,,ENST00000478553,;	626	45	54	SUCCESS
INSIG2	51141	.	GRCh37	2	118865873	118865873	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	433	83	359	0	ENST00000245787.4:c.653T>A	p.Ile218Asn	p.I218N	ENST00000245787	NM_016133.2	218	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS2122.1	653	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATCGCAG	NONE	.	.	hmmpanther:PTHR15301,hmmpanther:PTHR15301:SF10	.	.	ENSP00000245787	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000245787	Transcript	.	.	ENSG00000125629	20452	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	deleterious_low_confidence(0.01)	.	INSI2_HUMAN	INSIG2	HGNC	B4DQ23_HUMAN	.	UPI0000073C50	SNV	INSIG2,missense_variant,p.Ile218Asn,ENST00000245787,;INSIG2,non_coding_transcript_exon_variant,,ENST00000479999,;INSIG2,non_coding_transcript_exon_variant,,ENST00000467223,;INSIG2,non_coding_transcript_exon_variant,,ENST00000471186,;INSIG2,non_coding_transcript_exon_variant,,ENST00000485520,;INSIG2,downstream_gene_variant,,ENST00000488995,;INSIG2,3_prime_UTR_variant,,ENST00000411929,;	859	359	517	SUCCESS
PTPN4	5775	.	GRCh37	2	120712792	120712792	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	42	0	ENST00000263708.2:c.1873G>T	p.Glu625Ter	p.E625*	ENST00000263708	NM_002830.3	625	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS2129.1	1873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGAGAAA	NONE	.	.	hmmpanther:PTHR19134:SF187,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF52799	.	.	ENSP00000263708	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000263708	Transcript	.	.	ENSG00000088179	9656	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN4_HUMAN	PTPN4	HGNC	Q580X3_HUMAN,Q53QV5_HUMAN,Q53Q76_HUMAN,Q4ZG31_HUMAN,J3KQP5_HUMAN,F5H1A0_HUMAN	.	UPI0000000CA9	SNV	PTPN4,stop_gained,p.Glu258Ter,ENST00000544261,;PTPN4,stop_gained,p.Glu625Ter,ENST00000263708,;PTPN4,3_prime_UTR_variant,,ENST00000430976,;	2644	42	64	SUCCESS
NCKAP5	344148	.	GRCh37	2	133541516	133541516	+	synonymous_variant	Silent	SNP	G	G	A	rs746101038	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	21	116	0	ENST00000409261.1:c.2868C>T	p.Ser956=	p.S956=	ENST00000409261	NM_207363.2	956	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46418.1	2868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGGACTT	NONE	byFrequency	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	14/20	.	.	.	.	.	.	.	.	rs746101038	14/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,synonymous_variant,p.%3D,ENST00000409261,;NCKAP5,synonymous_variant,p.%3D,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;	3242	116	118	SUCCESS
CPS1	1373	.	GRCh37	2	211473186	211473186	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1356112836	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	99	0	ENST00000233072.5:c.2294G>A	p.Ser765Asn	p.S765N	ENST00000233072	NM_001875.4	765	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS46505.1	2312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTAGCCTGG	NONE	.	.	hmmpanther:PTHR11405:SF32,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Gene3D:3.30.470.20,Superfamily_domains:SSF56059	.	.	ENSP00000402608	.	20/39	.	.	.	.	.	.	.	.	.	20/39	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.01)	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,missense_variant,p.Ser771Asn,ENST00000430249,;CPS1,missense_variant,p.Ser765Asn,ENST00000233072,;CPS1,missense_variant,p.Ser314Asn,ENST00000451903,;CPS1,downstream_gene_variant,,ENST00000467353,;	2367	99	151	SUCCESS
UGT1A8	54576	.	GRCh37	2	234526724	234526724	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	26	116	0	ENST00000373450.4:c.371G>T	p.Cys124Phe	p.C124F	ENST00000373450	NM_019076.4	124	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	.	CCDS33402.1	371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGCAGGA	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF138,hmmpanther:PTHR11926	.	.	ENSP00000362549	.	1/5	.	.	.	.	.	.	.	.	COSM3673646	1/5	PASS	ENST00000373450	Transcript	.	.	ENSG00000241635	12540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	deleterious(0)	1	UD18_HUMAN	UGT1A8	HGNC	Q5DSZ6_HUMAN	.	UPI0000072F75	SNV	UGT1A8,missense_variant,p.Cys124Phe,ENST00000373450,;	434	116	152	SUCCESS
NRXN1	9378	.	GRCh37	2	51254752	51254752	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	105	0	ENST00000406316.2:c.660C>T	p.Gly220=	p.G220=	ENST00000406316	NM_004801.4	220	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46282.1	660	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGCCCGC	BUFFER|p.A219V|c.656C>T|3,BUFFER|p.A219V|c.656C>T|3,BUFFER|p.A219V|c.656C>T|3	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,SMART_domains:SM00181	.	.	ENSP00000385142	.	2/24	.	.	.	.	.	.	.	.	COSM1408486,COSM1408488,COSM1408487	2/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	.	.	.	1,1,1	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000405581,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,non_coding_transcript_exon_variant,,ENST00000496792,;	2000	105	124	SUCCESS
TGFBR2	7048	.	GRCh37	3	30713509	30713509	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs779238628	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	56	115	0	ENST00000359013.4:c.909del	p.Tyr306MetfsTer19	p.Y306Mfs*19	ENST00000359013	NM_001024847.2	303	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS33727.1	909	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGATCTTTCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF037393,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000351905	.	5/8	.	.	.	.	.	.	.	.	rs779238628	5/8	PASS	ENST00000359013	Transcript	.	.	ENSG00000163513	11773	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TGFR2_HUMAN	TGFBR2	HGNC	D2JYI1_HUMAN	.	UPI000053030E	deletion	TGFBR2,frameshift_variant,p.Tyr281MetfsTer19,ENST00000295754,;TGFBR2,frameshift_variant,p.Tyr306MetfsTer19,ENST00000359013,;	1192	115	210	SUCCESS
CACNA1D	776	.	GRCh37	3	53804516	53804516	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	62	0	ENST00000350061.5:c.3981G>A	p.Val1327=	p.V1327=	ENST00000350061	NM_001128840.2	1327	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2872.1	4041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGAAGCT	NONE	.	.	hmmpanther:PTHR10037:SF139,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000288139	.	33/49	.	.	.	.	.	.	.	.	.	33/49	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,synonymous_variant,p.%3D,ENST00000288139,;CACNA1D,synonymous_variant,p.%3D,ENST00000422281,;CACNA1D,synonymous_variant,p.%3D,ENST00000350061,;CACNA1D,synonymous_variant,p.%3D,ENST00000540742,;CACNA1D,synonymous_variant,p.%3D,ENST00000481478,;	4159	62	69	SUCCESS
FOXP1	27086	.	GRCh37	3	71064720	71064720	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	21	136	0	ENST00000318789.4:c.954A>T	p.Glu318Asp	p.E318D	ENST00000318789	NM_032682.5	318	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS58837.1	960	RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTTCGCA	NONE	.	.	hmmpanther:PTHR11829:SF147,hmmpanther:PTHR11829	.	.	ENSP00000420736	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000491238	Transcript	.	.	ENSG00000114861	3823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.15)	.	.	FOXP1	HGNC	Q8IXF4_HUMAN,E9PFD3_HUMAN,C9J5T4_HUMAN,C9IYY1_HUMAN,B4DMV4_HUMAN	.	UPI00002099BD	SNV	FOXP1,missense_variant,p.Glu320Asp,ENST00000491238,;FOXP1,missense_variant,p.Glu318Asp,ENST00000498215,;FOXP1,missense_variant,p.Glu318Asp,ENST00000318789,;FOXP1,missense_variant,p.Glu318Asp,ENST00000475937,;FOXP1,missense_variant,p.Glu214Asp,ENST00000497355,;FOXP1,missense_variant,p.Glu218Asp,ENST00000485326,;FOXP1,missense_variant,p.Glu318Asp,ENST00000468577,;FOXP1,missense_variant,p.Glu318Asp,ENST00000493089,;FOXP1,missense_variant,p.Glu242Asp,ENST00000484350,;FOXP1,missense_variant,p.Glu318Asp,ENST00000327590,;	1114	136	149	SUCCESS
FAT4	79633	.	GRCh37	4	126370127	126370127	+	synonymous_variant	Silent	SNP	C	C	T	rs546465658	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	92	0	ENST00000394329.3:c.7956C>T	p.Tyr2652=	p.Y2652=	ENST00000394329	NM_024582.4	2652	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS3732.3	7956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTACGAGAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	rs546465658	9/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,synonymous_variant,p.%3D,ENST00000394329,;FAT4,synonymous_variant,p.%3D,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	7969	92	99	SUCCESS
LRBA	987	.	GRCh37	4	151199013	151199013	+	synonymous_variant	Silent	SNP	G	G	A	rs76608264	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	63	0	ENST00000357115.3:c.8493C>T	p.Tyr2831=	p.Y2831=	ENST00000357115	NM_006726.4	2831	taC/taT	0	A:0.0041	A:0.0091	.	A:0	.	A	Y	protein_coding	YES	CCDS3773.1	8493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGTAAGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	A:0	A:0.0002	ENSP00000349629	A:0	57/58	.	.	.	.	.	.	.	.	rs76608264,COSM4122696	57/58	common_in_exac	ENST00000357115	Transcript	1	A:0.0024	ENSG00000198589	1742	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	LRBA_HUMAN	LRBA	HGNC	Q7KZN3_HUMAN	.	UPI000013E35C	SNV	LRBA,synonymous_variant,p.%3D,ENST00000535741,;LRBA,synonymous_variant,p.%3D,ENST00000357115,;LRBA,synonymous_variant,p.%3D,ENST00000510413,;LRBA,synonymous_variant,p.%3D,ENST00000509835,;LRBA,intron_variant,,ENST00000508606,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;LRBA,non_coding_transcript_exon_variant,,ENST00000510157,;LRBA,non_coding_transcript_exon_variant,,ENST00000515096,;	8737	63	57	SUCCESS
AFAP1	60312	.	GRCh37	4	7844908	7844908	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	60	0	ENST00000358461.2:c.504G>T	p.Gln168His	p.Q168H	ENST00000358461	NM_198595.2	168	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47010.1	504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACTGGCC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR14338,PROSITE_profiles:PS50003,hmmpanther:PTHR14338:SF8	.	.	ENSP00000410689	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000420658	Transcript	.	.	ENSG00000196526	24017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AFAP1_HUMAN	AFAP1	HGNC	.	.	UPI000048041E	SNV	AFAP1,missense_variant,p.Gln168His,ENST00000382543,;AFAP1,missense_variant,p.Gln168His,ENST00000420658,;AFAP1,missense_variant,p.Gln168His,ENST00000360265,;AFAP1,missense_variant,p.Gln168His,ENST00000358461,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513856,;	777	60	103	SUCCESS
KCNN2	3781	.	GRCh37	5	113740180	113740180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	48	0	ENST00000264773.3:c.628A>T	p.Thr210Ser	p.T210S	ENST00000264773	NM_001278204.1	210	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4114.1	628	RADIA|MUTECT|MUSE|VARSCANS	.	CCATGACTTAT	NONE	.	.	hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Pfam_domain:PF03530,Gene3D:1.10.287.70	.	.	ENSP00000427120	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000512097	Transcript	.	.	ENSG00000080709	6291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	tolerated(0.11)	.	KCNN2_HUMAN	KCNN2	HGNC	.	.	UPI000013D56A	SNV	KCNN2,missense_variant,p.Thr210Ser,ENST00000512097,;KCNN2,missense_variant,p.Thr210Ser,ENST00000264773,;KCNN2,intron_variant,,ENST00000507750,;	1646	48	44	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140740865	140740865	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765885822	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	41	155	0	ENST00000522605.1:c.1163G>A	p.Gly388Glu	p.G388E	ENST00000522605	NM_018923.2	388	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS54924.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGAAATG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	rs765885822,COSM3611296,COSM3611295	1/4	PASS	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.06)	.	tolerated(0.86)	0,1,1	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,missense_variant,p.Gly388Glu,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	1163	155	166	SUCCESS
SLC36A3	285641	.	GRCh37	5	150660677	150660677	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758913228	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	12	80	0	ENST00000335230.3:c.1042G>A	p.Val348Ile	p.V348I	ENST00000335230	NM_181774.3	348	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS47316.1	1165	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACGTGGA	NONE	byFrequency	.	Pfam_domain:PF01490,hmmpanther:PTHR22950:SF203,hmmpanther:PTHR22950,Transmembrane_helices:TMhelix	.	.	ENSP00000366942	.	10/11	.	.	.	.	.	.	.	.	rs758913228,COSM1739154	10/11	PASS	ENST00000377713	Transcript	.	.	ENSG00000186334	19659	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.538)	.	tolerated(0.06)	0,1	S36A3_HUMAN	SLC36A3	HGNC	.	.	UPI00005764D3	SNV	SLC36A3,missense_variant,p.Val348Ile,ENST00000335230,;SLC36A3,missense_variant,p.Val389Ile,ENST00000377713,;SLC36A3,non_coding_transcript_exon_variant,,ENST00000423071,;	1307	80	111	SUCCESS
ZFP2	80108	.	GRCh37	5	178359427	178359427	+	synonymous_variant	Silent	SNP	G	G	T	rs879000777	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	61	0	ENST00000361362.2:c.1113G>T	p.Val371=	p.V371=	ENST00000361362	NM_030613.2	371	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4440.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTGCATCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF183,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,synonymous_variant,p.%3D,ENST00000520301,;ZFP2,synonymous_variant,p.%3D,ENST00000503510,;ZFP2,synonymous_variant,p.%3D,ENST00000361362,;ZFP2,synonymous_variant,p.%3D,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1643	61	77	SUCCESS
ARSK	153642	.	GRCh37	5	94922268	94922268	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs1580226526	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	279	54	271	0	ENST00000380009.4:c.702G>T		p.X234_splice	ENST00000380009	NM_198150.2	234	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4073.1	702	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTGTCTCA	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF192,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000369346	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000380009	Transcript	.	.	ENSG00000164291	25239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARSK_HUMAN	ARSK	HGNC	.	.	UPI000004C65F	SNV	ARSK,synonymous_variant,p.%3D,ENST00000380009,;ARSK,synonymous_variant,p.%3D,ENST00000504873,;ARSK,splice_region_variant,,ENST00000513814,;ARSK,splice_region_variant,,ENST00000512106,;	907	271	333	SUCCESS
ZFP57	346171	.	GRCh37	6	29641328	29641328	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1452510913	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	38	106	0	ENST00000376881.3:c.500G>A	p.Arg167His	p.R167H	ENST00000376881		167	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43436.2	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGCCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000418259	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000488757	Transcript	.	.	ENSG00000204644	18791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.27)	.	ZFP57_HUMAN	ZFP57	HGNC	.	.	UPI0001951170	SNV	ZFP57,missense_variant,p.Arg167His,ENST00000376883,;ZFP57,missense_variant,p.Arg187His,ENST00000488757,;ZFP57,missense_variant,p.Arg167His,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000533330,;MOG,downstream_gene_variant,,ENST00000490427,;MOG,downstream_gene_variant,,ENST00000396704,;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376891,;MOG,downstream_gene_variant,,ENST00000376898,;MOG,downstream_gene_variant,,ENST00000494692,;MOG,downstream_gene_variant,,ENST00000376917,;MOG,downstream_gene_variant,,ENST00000376888,;MOG,downstream_gene_variant,,ENST00000376902,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000431798,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000396701,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	711	106	149	SUCCESS
CMTR1	23070	.	GRCh37	6	37403498	37403498	+	synonymous_variant	Silent	SNP	C	C	T	rs971998102	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	38	112	0	ENST00000373451.4:c.93C>T	p.Ser31=	p.S31=	ENST00000373451	NM_015050.2	31	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4835.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCCGATGA	NONE	.	.	hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121	.	.	ENSP00000362550	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000373451	Transcript	.	.	ENSG00000137200	21077	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTR1_HUMAN	CMTR1	HGNC	.	.	UPI00000700C2	SNV	CMTR1,synonymous_variant,p.%3D,ENST00000373451,;CMTR1,synonymous_variant,p.%3D,ENST00000455891,;CMTR1,non_coding_transcript_exon_variant,,ENST00000471097,;	257	112	166	SUCCESS
ZNF451	26036	.	GRCh37	6	56966388	56966388	+	intron_variant	Intron	SNP	A	A	G	rs549747588	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	40	99	0	ENST00000370706.4:c.186+2449A>G		p.*62*	ENST00000370706	NM_001031623.2			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS43477.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACATGGCC	NONE	by1000G	.	.	G:0	.	ENSP00000359740	G:0	.	.	.	.	.	.	.	.	.	rs549747588	.	PASS	ENST00000370706	Transcript	.	G:0.0002	ENSG00000112200	21091	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Met392Val,ENST00000370708,;ZNF451,intron_variant,,ENST00000370706,;ZNF451,intron_variant,,ENST00000370702,;ZNF451,intron_variant,,ENST00000357489,;ZNF451,intron_variant,,ENST00000510483,;ZNF451,intron_variant,,ENST00000515290,;ZNF451,intron_variant,,ENST00000491832,;ZNF451,downstream_gene_variant,,ENST00000370710,;ZNF451,downstream_gene_variant,,ENST00000508603,;ZNF451,intron_variant,,ENST00000509071,;ZNF451,upstream_gene_variant,,ENST00000509251,;ZNF451,downstream_gene_variant,,ENST00000510989,;ZNF451,intron_variant,,ENST00000502749,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,intron_variant,,ENST00000370711,;ZNF451,intron_variant,,ENST00000444273,;	.	100	129	SUCCESS
KEL	3792	.	GRCh37	7	142641785	142641785	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771907965	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	67	0	ENST00000355265.2:c.1358G>A	p.Arg453His	p.R453H	ENST00000355265	NM_000420.2	453	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34766.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGCGAGTG	NONE	byFrequency	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	.	.	ENSP00000347409	.	12/19	.	.	.	.	.	.	.	.	rs771907965,COSM3662997	12/19	PASS	ENST00000355265	Transcript	.	.	ENSG00000197993	6308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.031)	.	tolerated(0.29)	0,1	KELL_HUMAN	KEL	HGNC	Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN	.	UPI000000D923	SNV	KEL,missense_variant,p.Arg453His,ENST00000355265,;C7orf34,downstream_gene_variant,,ENST00000409607,;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000465697,;KEL,upstream_gene_variant,,ENST00000478969,;KEL,upstream_gene_variant,,ENST00000470850,;	1833	67	77	SUCCESS
ZPBP	11055	.	GRCh37	7	50097728	50097728	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201273041	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	18	103	0	ENST00000046087.2:c.344G>A	p.Arg115His	p.R115H	ENST00000046087	NM_007009.2	115	cGc/cAc	0	T:0	T:0.0008	.	T:0	.	T	R/H	protein_coding	YES	CCDS5509.1	344	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGCGGTTT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15443:SF5,hmmpanther:PTHR15443,Gene3D:2.60.40.10,Pfam_domain:PF07354,Superfamily_domains:SSF48726	T:0	T:0.0003	ENSP00000046087	T:0	4/8	.	.	.	.	.	.	.	.	rs201273041,COSM1090560	4/8	common_in_exac	ENST00000046087	Transcript	.	T:0.0004	ENSG00000042813	15662	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.019)	T:0.001	deleterious(0.01)	0,1	ZPBP1_HUMAN	ZPBP	HGNC	.	.	UPI0000073BD0	SNV	ZPBP,missense_variant,p.Arg114His,ENST00000419417,;ZPBP,missense_variant,p.Arg115His,ENST00000046087,;ZPBP,upstream_gene_variant,,ENST00000491129,;	414	103	131	SUCCESS
DYNC1I1	1780	.	GRCh37	7	95442633	95442633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	43	85	0	ENST00000324972.6:c.349C>A	p.Leu117Met	p.L117M	ENST00000324972	NM_004411.4	117	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS5644.1	349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGATCTGGGG	NONE	.	.	hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442	.	.	ENSP00000320130	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000324972	Transcript	.	.	ENSG00000158560	2963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.498)	.	tolerated(0.24)	.	DC1I1_HUMAN	DYNC1I1	HGNC	Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN	.	UPI0000129A01	SNV	DYNC1I1,missense_variant,p.Leu100Met,ENST00000359388,;DYNC1I1,missense_variant,p.Leu100Met,ENST00000518089,;DYNC1I1,missense_variant,p.Leu100Met,ENST00000457059,;DYNC1I1,missense_variant,p.Leu100Met,ENST00000537881,;DYNC1I1,missense_variant,p.Leu100Met,ENST00000447467,;DYNC1I1,missense_variant,p.Leu117Met,ENST00000437599,;DYNC1I1,missense_variant,p.Leu117Met,ENST00000324972,;DYNC1I1,missense_variant,p.Leu100Met,ENST00000413338,;DYNC1I1,downstream_gene_variant,,ENST00000524053,;	542	85	136	SUCCESS
LONRF1	91694	.	GRCh37	8	12580687	12580687	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	30	95	0	ENST00000398246.3:c.2240T>C	p.Val747Ala	p.V747A	ENST00000398246	NM_152271.3	747	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS5987.2	2240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAAACCGAC	NONE	.	.	hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF4,Pfam_domain:PF02190,SMART_domains:SM00464,Superfamily_domains:SSF88697	.	.	ENSP00000381298	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000398246	Transcript	.	.	ENSG00000154359	26302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	LONF1_HUMAN	LONRF1	HGNC	E9PQH4_HUMAN	.	UPI0000696489	SNV	LONRF1,missense_variant,p.Val350Ala,ENST00000524526,;LONRF1,missense_variant,p.Val747Ala,ENST00000398246,;LONRF1,missense_variant,p.Val390Ala,ENST00000533751,;LONRF1,missense_variant,p.Val173Ala,ENST00000525024,;MIR3926-2,downstream_gene_variant,,ENST00000578598,;MIR5692A1,downstream_gene_variant,,ENST00000582551,;LONRF1,3_prime_UTR_variant,,ENST00000526680,;LONRF1,non_coding_transcript_exon_variant,,ENST00000527055,;	2310	95	139	SUCCESS
CSMD1	64478	.	GRCh37	8	3015485	3015485	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1285112102	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	85	256	0	ENST00000537824.1:c.5848C>T	p.Arg1950Cys	p.R1950C	ENST00000537824	NM_033225.5	1950	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS55189.1	5848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACGGCCCT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	39/70	.	.	.	.	.	.	.	.	.	39/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Arg1951Cys,ENST00000400186,;CSMD1,missense_variant,p.Arg1950Cys,ENST00000542608,;CSMD1,missense_variant,p.Arg1951Cys,ENST00000602723,;CSMD1,missense_variant,p.Arg1431Cys,ENST00000335551,;CSMD1,missense_variant,p.Arg1950Cys,ENST00000537824,;CSMD1,missense_variant,p.Arg1951Cys,ENST00000520002,;CSMD1,missense_variant,p.Arg1950Cys,ENST00000539096,;CSMD1,missense_variant,p.Arg1951Cys,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000520451,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	5848	256	300	SUCCESS
CSMD1	64478	.	GRCh37	8	3216751	3216751	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748686121	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	33	86	0	ENST00000537824.1:c.3227G>A	p.Arg1076His	p.R1076H	ENST00000537824	NM_033225.5	1076	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS55189.1	3227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAACGATAT	BUFFER|p.R1076C|c.3226C>T|5,BUFFER|p.R1076C|c.3226C>T|5,BUFFER|p.R805C|c.2413C>T|5	byFrequency	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	21/70	.	.	.	.	.	.	.	.	rs748686121,COSM1249192,COSM307412	21/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	.	.	0,1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Arg1077His,ENST00000400186,;CSMD1,missense_variant,p.Arg1076His,ENST00000542608,;CSMD1,missense_variant,p.Arg1077His,ENST00000602723,;CSMD1,missense_variant,p.Arg557His,ENST00000335551,;CSMD1,missense_variant,p.Arg1076His,ENST00000537824,;CSMD1,missense_variant,p.Arg1077His,ENST00000520002,;CSMD1,missense_variant,p.Arg1076His,ENST00000539096,;CSMD1,missense_variant,p.Arg1077His,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	3227	86	132	SUCCESS
SLITRK4	139065	.	GRCh37	X	142718491	142718491	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	18	110	0	ENST00000338017.4:c.434A>G	p.Tyr145Cys	p.Y145C	ENST00000338017		145	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14679.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATATACTTG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	tolerated(0.18)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Tyr145Cys,ENST00000381779,;SLITRK4,missense_variant,p.Tyr145Cys,ENST00000338017,;SLITRK4,missense_variant,p.Tyr145Cys,ENST00000356928,;	660	110	114	SUCCESS
USP11	8237	.	GRCh37	X	47104422	47104422	+	synonymous_variant	Silent	SNP	G	G	A	rs769936095	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	51	0	ENST00000218348.3:c.2223G>A	p.Pro741=	p.P741=	ENST00000218348	NM_004651.3	741	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14277.1	2223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGTACAT	BUFFER|p.?|c.2216-1G>C|3	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF403,hmmpanther:PTHR24006,Pfam_domain:PF00443	.	.	ENSP00000218348	.	16/21	.	.	.	.	.	.	.	.	rs769936095	16/21	PASS	ENST00000218348	Transcript	.	.	ENSG00000102226	12609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP11_HUMAN	USP11	HGNC	Q6P453_HUMAN,Q5JXD3_HUMAN,G5E9A6_HUMAN,B4DGK3_HUMAN,B3KP28_HUMAN	.	UPI0000161434	SNV	USP11,synonymous_variant,p.%3D,ENST00000218348,;USP11,synonymous_variant,p.%3D,ENST00000377107,;USP11,downstream_gene_variant,,ENST00000377078,;USP11,downstream_gene_variant,,ENST00000377080,;USP11,non_coding_transcript_exon_variant,,ENST00000469080,;USP11,non_coding_transcript_exon_variant,,ENST00000497179,;USP11,non_coding_transcript_exon_variant,,ENST00000488848,;USP11,downstream_gene_variant,,ENST00000489111,;USP11,downstream_gene_variant,,ENST00000478596,;USP11,upstream_gene_variant,,ENST00000467378,;USP11,downstream_gene_variant,,ENST00000480104,;USP11,downstream_gene_variant,,ENST00000489030,;	2223	51	67	SUCCESS
CUTC	51076	.	GRCh37	10	101503802	101503802	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753780691	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	78	157	0	ENST00000370476.5:c.412C>T	p.Arg138Cys	p.R138C	ENST00000370476	NM_015960.2	138	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7483.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCCGCCCT	BUFFER|p.L140V|c.418C>G|3	.	.	HAMAP:MF_00795,hmmpanther:PTHR12598:SF0,hmmpanther:PTHR12598,Pfam_domain:PF03932,Gene3D:1twdB00,Superfamily_domains:0049721	.	.	ENSP00000359507	.	5/9	.	.	.	.	.	.	.	.	rs753780691,COSM682534,COSM239489	5/9	PASS	ENST00000370476	Transcript	.	.	ENSG00000119929	24271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.15)	.	deleterious(0)	0,1,1	CUTC_HUMAN	CUTC	HGNC	Q5TCZ7_HUMAN	.	UPI000007091E	SNV	CUTC,missense_variant,p.Arg138Cys,ENST00000370476,;CUTC,missense_variant,p.Arg75Cys,ENST00000370472,;CUTC,downstream_gene_variant,,ENST00000493385,;CUTC,missense_variant,p.Arg138Cys,ENST00000471520,;	541	157	164	SUCCESS
CDHR1	92211	.	GRCh37	10	85960359	85960359	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	54	133	0	ENST00000372117.3:c.441C>T		p.X147_splice	ENST00000372117	NM_033100.3	147	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS7372.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACATACC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,synonymous_variant,p.%3D,ENST00000372117,;CDHR1,synonymous_variant,p.%3D,ENST00000332904,;CDHR1,upstream_gene_variant,,ENST00000440770,;	544	133	102	SUCCESS
MUC6	4588	.	GRCh37	11	1016213	1016213	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	71	234	0	ENST00000421673.2:c.6588T>C	p.Pro2196=	p.P2196=	ENST00000421673	NM_005961.2	2196	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS44513.1	6588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAGGAGA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,Low_complexity_(Seg):seg	.	.	ENSP00000406861	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,synonymous_variant,p.%3D,ENST00000421673,;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;AP2A2,downstream_gene_variant,,ENST00000448903,;	6639	234	186	SUCCESS
OR5F1	338674	.	GRCh37	11	55761412	55761412	+	synonymous_variant	Silent	SNP	C	C	T	rs144082157	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	120	0	ENST00000278409.1:c.690G>A	p.Ser230=	p.S230=	ENST00000278409	NM_003697.1	230	tcG/tcA	0	T:0.0002	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS31515.1	690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCCGAATG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF10,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	T:0.003	T:0.0003	ENSP00000278409	T:0.001	1/1	.	.	.	.	.	.	.	.	rs144082157,COSM543307	1/1	common_in_exac	ENST00000278409	Transcript	.	T:0.0008	ENSG00000149133	8343	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	OR5F1_HUMAN	OR5F1	HGNC	.	.	UPI0000041D19	SNV	OR5F1,synonymous_variant,p.%3D,ENST00000278409,;	690	120	103	SUCCESS
EFEMP2	30008	.	GRCh37	11	65638628	65638628	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	59	0	ENST00000307998.6:c.367G>T	p.Asp123Tyr	p.D123Y	ENST00000307998	NM_016938.4	123	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8116.1	367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCCACAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF2,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000309953	.	4/11	.	.	.	.	.	.	.	.	COSM4035567	4/11	PASS	ENST00000307998	Transcript	.	.	ENSG00000172638	3219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.838)	.	deleterious(0.01)	1	FBLN4_HUMAN	EFEMP2	HGNC	E9PRQ8_HUMAN,E9PKA3_HUMAN,E9PI47_HUMAN	.	UPI000013EC97	SNV	EFEMP2,missense_variant,p.Asp123Tyr,ENST00000307998,;EFEMP2,missense_variant,p.Asp123Tyr,ENST00000526624,;EFEMP2,missense_variant,p.Asp123Tyr,ENST00000528176,;EFEMP2,missense_variant,p.Asp123Tyr,ENST00000527378,;EFEMP2,upstream_gene_variant,,ENST00000531645,;MUS81,downstream_gene_variant,,ENST00000533035,;EFEMP2,upstream_gene_variant,,ENST00000526911,;EFEMP2,upstream_gene_variant,,ENST00000530806,;MUS81,downstream_gene_variant,,ENST00000529742,;MUS81,downstream_gene_variant,,ENST00000308110,;EFEMP2,upstream_gene_variant,,ENST00000532648,;MUS81,downstream_gene_variant,,ENST00000525006,;EFEMP2,missense_variant,p.Asp123Tyr,ENST00000531972,;EFEMP2,splice_region_variant,,ENST00000527969,;EFEMP2,splice_region_variant,,ENST00000530850,;EFEMP2,splice_region_variant,,ENST00000533347,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000531005,;MUS81,downstream_gene_variant,,ENST00000531905,;MUS81,downstream_gene_variant,,ENST00000530928,;EFEMP2,upstream_gene_variant,,ENST00000526628,;EFEMP2,downstream_gene_variant,,ENST00000529870,;EFEMP2,upstream_gene_variant,,ENST00000525392,;MUS81,downstream_gene_variant,,ENST00000524647,;EFEMP2,upstream_gene_variant,,ENST00000532084,;EFEMP2,upstream_gene_variant,,ENST00000524408,;EFEMP2,upstream_gene_variant,,ENST00000527277,;MUS81,downstream_gene_variant,,ENST00000533519,;MUS81,downstream_gene_variant,,ENST00000530282,;EFEMP2,upstream_gene_variant,,ENST00000528409,;	598	59	55	SUCCESS
OLFML1	283298	.	GRCh37	11	7506869	7506869	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	34	0	ENST00000329293.3:c.-238T>A		p.*80*	ENST00000329293	NM_198474.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7779.1	.	MUTECT|MUSE	.	ACAGGTCAGTC	NONE	.	.	.	.	.	ENSP00000332511	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000329293	Transcript	.	.	ENSG00000183801	24473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OLFL1_HUMAN	OLFML1	HGNC	.	.	UPI0000161991	SNV	OLFML1,splice_donor_variant,,ENST00000530135,;OLFML1,5_prime_UTR_variant,,ENST00000534244,;OLFML1,5_prime_UTR_variant,,ENST00000528758,;OLFML1,5_prime_UTR_variant,,ENST00000329293,;CTD-2516F10.2,intron_variant,,ENST00000530201,;OLFML1,non_coding_transcript_exon_variant,,ENST00000528308,;	157	34	24	SUCCESS
NOS1	4842	.	GRCh37	12	117768410	117768410	+	synonymous_variant	Silent	SNP	G	G	A	rs369224010	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	41	0	ENST00000317775.6:c.465C>T	p.Pro155=	p.P155=	ENST00000317775	NM_000620.4	155	ccC/ccT	0	A:0.0003	.	.	.	.	A	P	protein_coding	YES	CCDS55890.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGGGACC	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF000333	.	A:0.0001	ENSP00000337459	.	1/29	.	.	.	.	.	.	.	.	rs369224010,COSM3968004	1/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,synonymous_variant,p.%3D,ENST00000344089,;NOS1,synonymous_variant,p.%3D,ENST00000317775,;NOS1,synonymous_variant,p.%3D,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;	470	41	36	SUCCESS
DHX37	57647	.	GRCh37	12	125453127	125453127	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	26	0	ENST00000308736.2:c.1361G>T	p.Gly454Val	p.G454V	ENST00000308736	NM_032656.3	454	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9261.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGCCACTG	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Superfamily_domains:SSF52540	.	.	ENSP00000311135	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.07)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Gly454Val,ENST00000308736,;DHX37,missense_variant,p.Gly241Val,ENST00000544745,;DHX37,upstream_gene_variant,,ENST00000543962,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	1460	26	24	SUCCESS
TMTC2	160335	.	GRCh37	12	83358835	83358835	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	184	457	0	ENST00000321196.3:c.1631C>G	p.Ala544Gly	p.A544G	ENST00000321196	NM_152588.1	544	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS9025.1	1631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGCAGAAG	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000322300	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.17)	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,missense_variant,p.Ala544Gly,ENST00000548305,;TMTC2,missense_variant,p.Ala544Gly,ENST00000321196,;TMTC2,missense_variant,p.Ala538Gly,ENST00000549919,;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;	2338	457	477	SUCCESS
GALNT4	8693	.	GRCh37	12	89916794	89916794	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	79	149	0	ENST00000529983.2:c.1533T>G	p.Asn511Lys	p.N511K	ENST00000529983	NM_003774.4	511	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS53817.1	1533	RADIA|SOMATICSNIPER|VARSCANS	.	ACATAATTTTT	NONE	.	.	Superfamily_domains:SSF50370,SMART_domains:SM00458,Gene3D:2.80.10.50,Pfam_domain:PF00652,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF7,PROSITE_profiles:PS50231	.	.	ENSP00000436604	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529983	Transcript	.	.	ENSG00000257594	4126	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.41)	.	GALT4_HUMAN	GALNT4	HGNC	.	.	UPI00001C036C	SNV	GALNT4,missense_variant,p.Asn511Lys,ENST00000529983,;POC1B-GALNT4,missense_variant,p.Asn508Lys,ENST00000548729,;GALNT4,missense_variant,p.Asn339Lys,ENST00000413530,;POC1B-GALNT4,3_prime_UTR_variant,,ENST00000547474,;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000549504,;POC1B,intron_variant,,ENST00000549035,;POC1B,intron_variant,,ENST00000313546,;RP11-734K2.4,upstream_gene_variant,,ENST00000605233,;POC1B,intron_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000546830,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000547274,;POC1B,intron_variant,,ENST00000547496,;	1790	149	157	SUCCESS
SYNDIG1L	646658	.	GRCh37	14	74876039	74876039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	134	0	ENST00000331628.3:c.409G>A	p.Glu137Lys	p.E137K	ENST00000331628	NM_001105579.1	137	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41970.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCCTCCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14768:SF4,hmmpanther:PTHR14768	.	.	ENSP00000331474	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000331628	Transcript	.	.	ENSG00000183379	32388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.56)	.	SYN1L_HUMAN	SYNDIG1L	HGNC	G3V402_HUMAN	.	UPI0000D6242F	SNV	SYNDIG1L,missense_variant,p.Glu137Lys,ENST00000554823,;SYNDIG1L,missense_variant,p.Glu137Lys,ENST00000331628,;SYNDIG1L,downstream_gene_variant,,ENST00000554953,;	657	134	77	SUCCESS
HERC2P2	400322	.	GRCh37	15	23293467	23293467	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	17	0	ENST00000560464.1:n.4955A>T		p.*1652*	ENST00000560464				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CTGCATTTGAA	NONE	.	.	.	.	.	.	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000560464	Transcript	.	.	ENSG00000140181	4870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P2	HGNC	.	.	.	SNV	HERC2P2,non_coding_transcript_exon_variant,,ENST00000560464,;HERC2P2,downstream_gene_variant,,ENST00000559970,;HERC2P2,upstream_gene_variant,,ENST00000558398,;HERC2P2,non_coding_transcript_exon_variant,,ENST00000559650,;HERC2P2,non_coding_transcript_exon_variant,,ENST00000454333,;	4955	17	36	SUCCESS
MYH11	4629	.	GRCh37	16	15808930	15808930	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	70	0	ENST00000300036.5:c.5622del	p.Gly1875AlafsTer47	p.G1875Afs*47	ENST00000300036	NM_002474.2	1874	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS45423.1	5643	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGCCTTTCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140	.	.	ENSP00000379616	.	41/42	.	.	.	.	.	.	.	.	.	41/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	deletion	MYH11,frameshift_variant,p.Gly1875AlafsTer47,ENST00000576790,;MYH11,frameshift_variant,p.Gly1875AlafsTer47,ENST00000300036,;MYH11,frameshift_variant,p.Gly1882AlafsTer47,ENST00000396324,;MYH11,frameshift_variant,p.Gly1882AlafsTer47,ENST00000452625,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,intron_variant,,ENST00000396355,;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000396354,;MYH11,upstream_gene_variant,,ENST00000573908,;MYH11,non_coding_transcript_exon_variant,,ENST00000576164,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;	5731	70	49	SUCCESS
KIAA0895L	653319	.	GRCh37	16	67213344	67213344	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770312263	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	47	0	ENST00000290881.7:c.836G>A	p.Arg279Gln	p.R279Q	ENST00000290881		279	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS42177.1	836	RADIA|VARSCANS	.	CATGCCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR31817:SF1,hmmpanther:PTHR31817,Pfam_domain:PF08014	.	.	ENSP00000290881	.	5/8	.	.	.	.	.	.	.	.	rs770312263	5/8	PASS	ENST00000290881	Transcript	.	.	ENSG00000196123	34408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.654)	.	deleterious(0.03)	.	K895L_HUMAN	KIAA0895L	HGNC	J3KRL4_HUMAN	.	UPI00001AEB6A	SNV	KIAA0895L,missense_variant,p.Arg279Gln,ENST00000290881,;KIAA0895L,missense_variant,p.Arg279Gln,ENST00000561621,;KIAA0895L,missense_variant,p.Arg97Gln,ENST00000568563,;KIAA0895L,missense_variant,p.Arg279Gln,ENST00000563902,;NOL3,downstream_gene_variant,,ENST00000563439,;NOL3,downstream_gene_variant,,ENST00000432069,;EXOC3L1,downstream_gene_variant,,ENST00000545725,;EXOC3L1,downstream_gene_variant,,ENST00000563889,;NOL3,downstream_gene_variant,,ENST00000564053,;NOL3,downstream_gene_variant,,ENST00000564860,;NOL3,downstream_gene_variant,,ENST00000268605,;NOL3,downstream_gene_variant,,ENST00000563258,;NOL3,downstream_gene_variant,,ENST00000568146,;NOL3,downstream_gene_variant,,ENST00000565560,;EXOC3L1,downstream_gene_variant,,ENST00000314586,;NOL3,downstream_gene_variant,,ENST00000566871,;NOL3,downstream_gene_variant,,ENST00000564992,;KIAA0895L,non_coding_transcript_exon_variant,,ENST00000570009,;KIAA0895L,non_coding_transcript_exon_variant,,ENST00000564423,;KIAA0895L,intron_variant,,ENST00000563831,;KIAA0895L,upstream_gene_variant,,ENST00000563918,;KIAA0895L,upstream_gene_variant,,ENST00000562514,;KIAA0895L,3_prime_UTR_variant,,ENST00000569349,;KIAA0895L,non_coding_transcript_exon_variant,,ENST00000561679,;KIAA0895L,non_coding_transcript_exon_variant,,ENST00000564835,;KIAA0895L,downstream_gene_variant,,ENST00000568165,;NOL3,downstream_gene_variant,,ENST00000568503,;EXOC3L1,downstream_gene_variant,,ENST00000564324,;EXOC3L1,downstream_gene_variant,,ENST00000563536,;	1763	47	39	SUCCESS
CTU2	348180	.	GRCh37	16	88776355	88776355	+	synonymous_variant	Silent	SNP	C	C	T	rs771945443	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	84	0	ENST00000453996.2:c.153C>T	p.Phe51=	p.F51=	ENST00000453996	NM_001012759.1	51	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS45545.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCAAGGC	NONE	byFrequency	.	HAMAP:MF_03054,hmmpanther:PTHR20882	.	.	ENSP00000388320	.	3/15	.	.	.	.	.	.	.	.	rs771945443	3/15	PASS	ENST00000453996	Transcript	.	.	ENSG00000174177	28005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTU2_HUMAN	CTU2	HGNC	H3BNU5_HUMAN,B4DS10_HUMAN	.	UPI0000251EAE	SNV	CTU2,synonymous_variant,p.%3D,ENST00000312060,;CTU2,synonymous_variant,p.%3D,ENST00000453996,;CTU2,synonymous_variant,p.%3D,ENST00000567949,;CTU2,5_prime_UTR_variant,,ENST00000564921,;CTU2,intron_variant,,ENST00000378384,;CTU2,upstream_gene_variant,,ENST00000567316,;RNF166,upstream_gene_variant,,ENST00000562544,;RNF166,upstream_gene_variant,,ENST00000567844,;RNF166,upstream_gene_variant,,ENST00000312838,;CTU2,non_coding_transcript_exon_variant,,ENST00000565071,;CTU2,intron_variant,,ENST00000564105,;CTU2,upstream_gene_variant,,ENST00000564584,;CTU2,upstream_gene_variant,,ENST00000566637,;	221	85	93	SUCCESS
PELP1	27043	.	GRCh37	17	4577867	4577867	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199877885	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	132	0	ENST00000574876.1:c.1520C>T	p.Pro507Leu	p.P507L	ENST00000574876		507	cCg/cTg	0	A:0	A:0	.	A:0	.	A	P/L	protein_coding	YES	.	1520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCGGGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429	A:0	A:0.0011	ENSP00000461625	A:0.001	13/17	.	.	.	.	.	.	.	.	rs199877885	13/17	common_in_exac	ENST00000574876	Transcript	.	A:0.0002	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	A:0	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Pro505Leu,ENST00000269230,;PELP1,missense_variant,p.Pro360Leu,ENST00000436683,;PELP1,missense_variant,p.Pro507Leu,ENST00000574876,;PELP1,missense_variant,p.Pro651Leu,ENST00000301396,;PELP1,missense_variant,p.Pro557Leu,ENST00000572293,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;PELP1,downstream_gene_variant,,ENST00000570571,;AC091153.4,upstream_gene_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,downstream_gene_variant,,ENST00000575534,;PELP1,downstream_gene_variant,,ENST00000573506,;PELP1,upstream_gene_variant,,ENST00000573242,;	1538	132	108	SUCCESS
DLG4	1742	.	GRCh37	17	7097812	7097812	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	26	72	0	ENST00000399506.2:c.1304C>T	p.Ala435Val	p.A435V	ENST00000399506		435	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45599.1	1433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGCCCTG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR23119:SF4,hmmpanther:PTHR23119,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50044	.	.	ENSP00000382428	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000399510	Transcript	.	.	ENSG00000132535	2903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	DLG4_HUMAN	DLG4	HGNC	Q3ZCU5_HUMAN,K7EKU8_HUMAN,K7EKP9_HUMAN,B9EGL1_HUMAN,B7Z647_HUMAN	.	UPI0000048D63	SNV	DLG4,missense_variant,p.Ala435Val,ENST00000399506,;DLG4,missense_variant,p.Ala432Val,ENST00000302955,;DLG4,missense_variant,p.Ala478Val,ENST00000399510,;DLG4,upstream_gene_variant,,ENST00000489885,;DLG4,upstream_gene_variant,,ENST00000491753,;	2286	72	40	SUCCESS
KIF19	124602	.	GRCh37	17	72344027	72344027	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759216207	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	20	0	ENST00000389916.4:c.1036A>G	p.Ile346Val	p.I346V	ENST00000389916	NM_153209.3	346	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32718.2	1036	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGAACATTAAG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000374566	.	9/20	.	.	.	.	.	.	.	.	rs759216207	9/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ile346Val,ENST00000389916,;KIF19,missense_variant,p.Ile304Val,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,upstream_gene_variant,,ENST00000549637,;	1174	20	14	SUCCESS
FDXR	2232	.	GRCh37	17	72859044	72859044	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs538544564	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	68	0	ENST00000293195.5:c.1371C>G	p.Asp457Glu	p.D457E	ENST00000293195	NM_001258014.1	457	gaC/gaG	0	.	C:0	.	C:0	.	C	D/E	protein_coding	YES	CCDS58595.1	1500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGTCTGA	NONE	by1000G	.	Superfamily_domains:SSF51971,PIRSF_domain:PIRSF000362,Gene3D:3.40.50.720,hmmpanther:PTHR11938	C:0.001	.	ENSP00000416515	C:0	12/12	.	.	.	.	.	.	.	.	rs538544564	12/12	PASS	ENST00000442102	Transcript	.	C:0.0002	ENSG00000161513	3642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	C:0	tolerated(0.14)	.	ADRO_HUMAN	FDXR	HGNC	.	.	UPI00017A7105	SNV	FDXR,missense_variant,p.Asp417Glu,ENST00000420580,;FDXR,missense_variant,p.Asp457Glu,ENST00000293195,;FDXR,missense_variant,p.Asp500Glu,ENST00000442102,;FDXR,missense_variant,p.Asp405Glu,ENST00000544854,;FDXR,missense_variant,p.Asp463Glu,ENST00000581530,;FDXR,missense_variant,p.Asp449Glu,ENST00000582944,;FDXR,missense_variant,p.Asp488Glu,ENST00000413947,;FDXR,missense_variant,p.Asp429Glu,ENST00000583917,;FDXR,3_prime_UTR_variant,,ENST00000455107,;FDXR,downstream_gene_variant,,ENST00000581219,;FDXR,downstream_gene_variant,,ENST00000579893,;GRIN2C,upstream_gene_variant,,ENST00000347612,;GRIN2C,upstream_gene_variant,,ENST00000293190,;FDXR,downstream_gene_variant,,ENST00000581969,;GRIN2C,upstream_gene_variant,,ENST00000578159,;FDXR,3_prime_UTR_variant,,ENST00000579482,;FDXR,3_prime_UTR_variant,,ENST00000577509,;FDXR,3_prime_UTR_variant,,ENST00000583881,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;FDXR,downstream_gene_variant,,ENST00000580492,;GRIN2C,upstream_gene_variant,,ENST00000584176,;FDXR,downstream_gene_variant,,ENST00000582710,;FDXR,downstream_gene_variant,,ENST00000577932,;FDXR,downstream_gene_variant,,ENST00000579543,;GRIN2C,upstream_gene_variant,,ENST00000584496,;	1587	68	48	SUCCESS
CCDC57	284001	.	GRCh37	17	80115731	80115731	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	26	54	0	ENST00000389641.4:c.2134C>T	p.Gln712Ter	p.Q712*	ENST00000389641		712	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	2134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGCTTCC	NONE	.	.	hmmpanther:PTHR23161:SF1,hmmpanther:PTHR23161	.	.	ENSP00000376154	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000392343	Transcript	.	.	ENSG00000176155	27564	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD57_HUMAN	CCDC57	HGNC	.	.	UPI000022A20F	SNV	CCDC57,stop_gained,p.Gln712Ter,ENST00000389641,;CCDC57,stop_gained,p.Gln712Ter,ENST00000392343,;CCDC57,stop_gained,p.Gln96Ter,ENST00000419322,;CCDC57,stop_gained,p.Gln712Ter,ENST00000392347,;RP11-1376P16.1,upstream_gene_variant,,ENST00000582774,;RP11-1376P16.2,downstream_gene_variant,,ENST00000579979,;CCDC57,non_coding_transcript_exon_variant,,ENST00000327026,;CCDC57,upstream_gene_variant,,ENST00000475635,;	2489	54	45	SUCCESS
APCDD1	147495	.	GRCh37	18	10471887	10471887	+	synonymous_variant	Silent	SNP	C	C	T	rs145453912	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	59	0	ENST00000355285.5:c.603C>T	p.Ala201=	p.A201=	ENST00000355285	NM_153000.4	201	gcC/gcT	0	G:0.0011	G:0.0008	.	G:0	.	T	A	protein_coding	YES	CCDS11849.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCGTGAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921	G:0	G:0	ENSP00000347433	G:0	3/5	.	.	.	.	.	.	.	.	rs145453912,COSM986494	3/5	PASS	ENST00000355285	Transcript	.	G:0.0002	ENSG00000154856	15718	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	G:0	.	0,1	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,synonymous_variant,p.%3D,ENST00000584596,;APCDD1,synonymous_variant,p.%3D,ENST00000355285,;APCDD1,intron_variant,,ENST00000578882,;APCDD1,3_prime_UTR_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;	957	59	61	SUCCESS
KIAA0355	0	.	GRCh37	19	34791740	34791740	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	78	0	ENST00000299505.6:c.362A>C	p.Gln121Pro	p.Q121P	ENST00000299505	NM_014686.3	121	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS12436.1	362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAGGAGC	NONE	.	.	hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	.	ENSP00000299505	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious_low_confidence(0.01)	.	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,missense_variant,p.Gln121Pro,ENST00000299505,;KIAA0355,5_prime_UTR_variant,,ENST00000588470,;KIAA0355,intron_variant,,ENST00000588338,;KIAA0355,downstream_gene_variant,,ENST00000589583,;KIAA0355,downstream_gene_variant,,ENST00000592124,;KIAA0355,downstream_gene_variant,,ENST00000585833,;RPL29P33,upstream_gene_variant,,ENST00000431093,;RPL29P33,upstream_gene_variant,,ENST00000587474,;	1235	78	48	SUCCESS
ZNF527	84503	.	GRCh37	19	37879212	37879212	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	89	198	0	ENST00000436120.2:c.261G>T	p.Trp87Cys	p.W87C	ENST00000436120	NM_032453.1	87	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS42559.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGGAGTC	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71	.	.	ENSP00000390179	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000436120	Transcript	.	.	ENSG00000189164	29385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.06)	.	ZN527_HUMAN	ZNF527	HGNC	.	.	UPI00002021F5	SNV	ZNF527,missense_variant,p.Trp55Cys,ENST00000588911,;ZNF527,missense_variant,p.Trp87Cys,ENST00000436120,;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,3_prime_UTR_variant,,ENST00000588512,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;	368	198	225	SUCCESS
HNRNPL	3191	.	GRCh37	19	39328060	39328060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	175	0	ENST00000221419.5:c.1675C>G	p.Leu559Val	p.L559V	ENST00000221419	NM_001533.2	559	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	.	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGAGTCT	NONE	.	.	hmmpanther:PTHR11546:SF19,hmmpanther:PTHR11546,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000470059	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000594769	Transcript	.	.	ENSG00000268083	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.02)	.	.	AC104534.3	Clone_based_vega_gene	M0QXS7_HUMAN	.	UPI0002A47614	SNV	AC104534.3,missense_variant,p.Leu68Val,ENST00000602021,;HNRNPL,missense_variant,p.Leu426Val,ENST00000600873,;HNRNPL,missense_variant,p.Leu500Val,ENST00000601449,;HNRNPL,missense_variant,p.Leu559Val,ENST00000221419,;AC104534.3,missense_variant,p.Leu176Val,ENST00000594769,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595443,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595804,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,downstream_gene_variant,,ENST00000601664,;	525	175	162	SUCCESS
DACT3	147906	.	GRCh37	19	47155898	47155898	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	23	0	ENST00000391916.2:c.499+19G>A		p.*167*	ENST00000391916	NM_145056.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12688.2	.	MUTECT|MUSE	.	GGGCCCCACCC	NONE	.	.	.	.	.	ENSP00000375783	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000391916	Transcript	.	.	ENSG00000197380	30745	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DACT3_HUMAN	DACT3	HGNC	.	.	UPI0000202707	SNV	DACT3,missense_variant,p.Gly173Glu,ENST00000410105,;DACT3,intron_variant,,ENST00000300875,;DACT3,intron_variant,,ENST00000391916,;	.	23	15	SUCCESS
NLRP12	91662	.	GRCh37	19	54313461	54313461	+	synonymous_variant	Silent	SNP	G	G	A	rs769866276	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	97	0	ENST00000324134.6:c.1452C>T	p.His484=	p.H484=	ENST00000324134	NM_144687.3	484	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS12864.1	1452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGTGCTT	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106	.	.	ENSP00000319377	.	3/10	.	.	.	.	.	.	.	.	rs769866276	3/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,synonymous_variant,p.%3D,ENST00000535162,;NLRP12,synonymous_variant,p.%3D,ENST00000391775,;NLRP12,synonymous_variant,p.%3D,ENST00000354278,;NLRP12,synonymous_variant,p.%3D,ENST00000391773,;NLRP12,synonymous_variant,p.%3D,ENST00000324134,;NLRP12,synonymous_variant,p.%3D,ENST00000391772,;NLRP12,synonymous_variant,p.%3D,ENST00000345770,;NLRP12,synonymous_variant,p.%3D,ENST00000351894,;NLRP12,upstream_gene_variant,,ENST00000492915,;	1621	97	111	SUCCESS
OSCAR	126014	.	GRCh37	19	54602893	54602893	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	48	82	0	ENST00000359649.4:c.71-1G>T		p.X24_splice	ENST00000359649	NM_206818.1	24		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12876.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACTAAGG	NONE	.	.	.	.	.	ENSP00000352671	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	HIGH	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,splice_acceptor_variant,,ENST00000356532,;OSCAR,splice_acceptor_variant,,ENST00000359649,;OSCAR,intron_variant,,ENST00000358375,;OSCAR,intron_variant,,ENST00000284648,;OSCAR,intron_variant,,ENST00000351806,;OSCAR,intron_variant,,ENST00000391761,;OSCAR,intron_variant,,ENST00000391760,;NDUFA3,upstream_gene_variant,,ENST00000485876,;NDUFA3,upstream_gene_variant,,ENST00000391762,;NDUFA3,upstream_gene_variant,,ENST00000391763,;NDUFA3,upstream_gene_variant,,ENST00000303553,;NDUFA3,upstream_gene_variant,,ENST00000471292,;NDUFA3,upstream_gene_variant,,ENST00000391764,;NDUFA3,upstream_gene_variant,,ENST00000484103,;NDUFA3,upstream_gene_variant,,ENST00000422029,;NDUFA3,upstream_gene_variant,,ENST00000451517,;NDUFA3,upstream_gene_variant,,ENST00000417903,;NDUFA3,upstream_gene_variant,,ENST00000419113,;	.	82	108	SUCCESS
PTPN22	26191	.	GRCh37	1	114380291	114380291	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	56	166	1	ENST00000359785.5:c.1731T>C	p.Tyr577=	p.Y577=	ENST00000359785	NM_015967.5	577	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS863.1	1731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAATAAGA	NONE	.	.	PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,synonymous_variant,p.%3D,ENST00000528414,;PTPN22,synonymous_variant,p.%3D,ENST00000420377,;PTPN22,synonymous_variant,p.%3D,ENST00000359785,;PTPN22,synonymous_variant,p.%3D,ENST00000525799,;PTPN22,synonymous_variant,p.%3D,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	1867	167	153	SUCCESS
SYCP1	6847	.	GRCh37	1	115524051	115524051	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	87	165	0	ENST00000369518.1:c.2477C>T	p.Ser826Leu	p.S826L	ENST00000369518		826	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS879.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCAGTTG	NONE	.	.	hmmpanther:PTHR18878	.	.	ENSP00000358535	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000369522	Transcript	.	.	ENSG00000198765	11487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.08)	.	SYCP1_HUMAN	SYCP1	HGNC	Q5VXJ5_HUMAN	.	UPI00001CE3B9	SNV	SYCP1,missense_variant,p.Ser826Leu,ENST00000369518,;SYCP1,missense_variant,p.Ser826Leu,ENST00000369522,;SYCP1,downstream_gene_variant,,ENST00000455987,;SYCP1,non_coding_transcript_exon_variant,,ENST00000477590,;	2717	165	204	SUCCESS
FLAD1	80308	.	GRCh37	1	154960711	154960711	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs150372864	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	63	189	0	ENST00000292180.3:c.503A>C	p.Asn168Thr	p.N168T	ENST00000292180	NM_025207.4	168	aAc/aCc	0	T:0	T:0	.	T:0	.	C	N/T	protein_coding	YES	CCDS1078.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAACCGCT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF53218,SMART_domains:SM00852,PIRSF_domain:PIRSF036620,Gene3D:3.40.980.10,Pfam_domain:PF00994,hmmpanther:PTHR23293,hmmpanther:PTHR23293:SF9	T:0	T:0.0006	ENSP00000292180	T:0.001	2/7	.	.	.	.	.	.	.	.	rs150372864	2/7	PASS	ENST00000292180	Transcript	.	T:0.0006	ENSG00000160688	24671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	T:0.002	tolerated(0.34)	.	FAD1_HUMAN	FLAD1	HGNC	Q5T196_HUMAN,Q5T190_HUMAN	.	UPI00000735B2	SNV	FLAD1,missense_variant,p.Asn71Thr,ENST00000315144,;FLAD1,missense_variant,p.Asn168Thr,ENST00000368433,;FLAD1,missense_variant,p.Asn69Thr,ENST00000405236,;FLAD1,missense_variant,p.Asn71Thr,ENST00000368432,;FLAD1,missense_variant,p.Asn69Thr,ENST00000368431,;FLAD1,missense_variant,p.Asn168Thr,ENST00000292180,;FLAD1,5_prime_UTR_variant,,ENST00000295530,;FLAD1,upstream_gene_variant,,ENST00000368428,;FLAD1,non_coding_transcript_exon_variant,,ENST00000487371,;FLAD1,upstream_gene_variant,,ENST00000489992,;FLAD1,upstream_gene_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000481758,;	825	189	225	SUCCESS
FCGR3B	2215	.	GRCh37	1	161596059	161596059	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1403308226	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	151	233	0	ENST00000294800.3:c.453T>G	p.Phe151Leu	p.F151L	ENST00000294800	NM_001271035.1	151	ttT/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS58040.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGAAAATA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14	.	.	ENSP00000433642	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000531221	Transcript	.	.	ENSG00000162747	3620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.353)	.	tolerated(0.67)	.	.	FCGR3B	HGNC	M9MML6_HUMAN,E9PNY5_HUMAN	.	UPI000066D8C5	SNV	FCGR3B,missense_variant,p.Phe172Leu,ENST00000421702,;FCGR3B,missense_variant,p.Phe187Leu,ENST00000531221,;FCGR3B,missense_variant,p.Phe151Leu,ENST00000367964,;FCGR3B,missense_variant,p.Phe151Leu,ENST00000294800,;FCGR2B,intron_variant,,ENST00000403078,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000428605,;FCGR2B,intron_variant,,ENST00000367962,;FCGR3A,intron_variant,,ENST00000540048,;FCGR3B,downstream_gene_variant,,ENST00000534776,;FCGR3B,downstream_gene_variant,,ENST00000533780,;FCGR3B,downstream_gene_variant,,ENST00000534489,;	565	233	188	SUCCESS
TRMT1L	81627	.	GRCh37	1	185089286	185089287	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	345	101	293	0	ENST00000367506.5:c.2066dup	p.Leu689PhefsTer22	p.L689Ffs*22	ENST00000367506	NM_001202423.1	689	tta/ttTa	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS1366.1	2066-2067	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTTTAAAAG	NONE	.	.	hmmpanther:PTHR10631:SF1,hmmpanther:PTHR10631	.	.	ENSP00000356476	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000367506	Transcript	.	.	ENSG00000121486	16782	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRM1L_HUMAN	TRMT1L	HGNC	.	.	UPI000000DADB	insertion	TRMT1L,frameshift_variant,p.Leu689PhefsTer22,ENST00000367506,;TRMT1L,3_prime_UTR_variant,,ENST00000367504,;TRMT1L,downstream_gene_variant,,ENST00000458395,;TRMT1L,non_coding_transcript_exon_variant,,ENST00000465827,;	2335-2336	293	446	SUCCESS
GPR137B	7107	.	GRCh37	1	236368456	236368456	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs763295179	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	48	121	0	ENST00000366592.3:c.997T>A	p.Phe333Ile	p.F333I	ENST00000366592	NM_003272.3	333	Ttc/Atc	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS1609.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATTCAGT	NONE	.	.	hmmpanther:PTHR15146:SF0,hmmpanther:PTHR15146	.	.	ENSP00000355551	.	6/7	.	.	.	.	.	.	.	.	rs763295179	6/7	PASS	ENST00000366592	Transcript	.	.	ENSG00000077585	11862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	deleterious(0.02)	.	G137B_HUMAN	GPR137B	HGNC	Q5TAF0_HUMAN,B4DI47_HUMAN	.	UPI0000050441	SNV	GPR137B,missense_variant,p.Phe115Ile,ENST00000419162,;GPR137B,missense_variant,p.Phe197Ile,ENST00000454895,;GPR137B,missense_variant,p.Phe333Ile,ENST00000366592,;GPR137B,non_coding_transcript_exon_variant,,ENST00000477559,;	1088	121	138	SUCCESS
RYR2	6262	.	GRCh37	1	237774079	237774079	+	synonymous_variant	Silent	SNP	G	G	T	rs775379095	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	50	128	0	ENST00000366574.2:c.4701G>T	p.Ser1567=	p.S1567=	ENST00000366574	NM_001035.2	1567	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55691.1	4701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCGGCGGG	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	36/105	.	.	.	.	.	.	.	.	rs775379095	36/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	5018	128	171	SUCCESS
OR2L13	284521	.	GRCh37	1	248263611	248263611	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	53	0	ENST00000358120.2:c.934G>T	p.Glu312Ter	p.E312*	ENST00000358120		312	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS1637.1	934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGAATAA	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF102	.	.	ENSP00000355434	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366478	Transcript	.	.	ENSG00000196071	19578	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2LD_HUMAN	OR2L13	HGNC	.	.	UPI0000043517	SNV	OR2L13,stop_gained,p.Glu312Ter,ENST00000358120,;OR2L13,stop_gained,p.Glu312Ter,ENST00000366478,;	1271	53	104	SUCCESS
COX4I2	84701	.	GRCh37	20	30227827	30227827	+	synonymous_variant	Silent	SNP	C	C	T	rs539460095	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	20	0	ENST00000376075.3:c.174C>T	p.Asn58=	p.N58=	ENST00000376075	NM_032609.2	58	aaC/aaT	0	.	T:0	.	T:0	.	T	N	protein_coding	YES	CCDS13187.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAACGCTGA	NONE	by1000G	.	Superfamily_domains:0041782,Pfam_domain:PF02936,Gene3D:1v54D00,hmmpanther:PTHR10707:SF7,hmmpanther:PTHR10707	T:0.001	.	ENSP00000365243	T:0	3/5	.	.	.	.	.	.	.	.	rs539460095	3/5	PASS	ENST00000376075	Transcript	1	T:0.0002	ENSG00000131055	16232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	COX42_HUMAN	COX4I2	HGNC	H6SG14_HUMAN	.	UPI000013CDC9	SNV	COX4I2,synonymous_variant,p.%3D,ENST00000376075,;COX4I2,non_coding_transcript_exon_variant,,ENST00000490030,;	249	20	18	SUCCESS
TRPC4AP	26133	.	GRCh37	20	33598060	33598060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	97	272	0	ENST00000252015.2:c.1441C>G	p.Leu481Val	p.L481V	ENST00000252015		481	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS13246.1	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Pfam_domain:PF12463	.	.	ENSP00000252015	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000252015	Transcript	.	.	ENSG00000100991	16181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	deleterious(0.02)	.	TP4AP_HUMAN	TRPC4AP	HGNC	.	.	UPI000004FADD	SNV	TRPC4AP,missense_variant,p.Leu83Val,ENST00000539834,;TRPC4AP,missense_variant,p.Leu473Val,ENST00000451813,;TRPC4AP,missense_variant,p.Leu481Val,ENST00000252015,;TRPC4AP,missense_variant,p.Leu442Val,ENST00000432634,;	1531	272	256	SUCCESS
CDC25B	994	.	GRCh37	20	3782976	3782976	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	48	0	ENST00000245960.5:c.1147A>G	p.Asn383Asp	p.N383D	ENST00000245960	NM_021873.2	383	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS13067.1	1147	RADIA|VARSCANS	.	TCGAGAACCTC	NONE	.	.	hmmpanther:PTHR10828:SF46,hmmpanther:PTHR10828,Pfam_domain:PF06617	.	.	ENSP00000245960	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000245960	Transcript	.	.	ENSG00000101224	1726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.392)	.	deleterious(0.02)	.	MPIP2_HUMAN	CDC25B	HGNC	D3DVY6_HUMAN,B3KS38_HUMAN	.	UPI000012F474	SNV	CDC25B,missense_variant,p.Asn342Asp,ENST00000340833,;CDC25B,missense_variant,p.Asn369Asp,ENST00000439880,;CDC25B,missense_variant,p.Asn292Asp,ENST00000379598,;CDC25B,missense_variant,p.Asn319Asp,ENST00000344256,;CDC25B,missense_variant,p.Asn383Asp,ENST00000245960,;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,non_coding_transcript_exon_variant,,ENST00000480816,;CDC25B,non_coding_transcript_exon_variant,,ENST00000468979,;CDC25B,upstream_gene_variant,,ENST00000495915,;	1844	48	35	SUCCESS
ADRM1	11047	.	GRCh37	20	60878628	60878628	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	23	0	ENST00000253003.2:c.4A>G	p.Thr2Ala	p.T2A	ENST00000253003	NM_175573.2	2	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS13496.1	4	RADIA|VARSCANS	.	GGATGACGACC	NONE	.	.	hmmpanther:PTHR12225	.	.	ENSP00000253003	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000253003	Transcript	.	.	ENSG00000130706	15759	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.5)	.	ADRM1_HUMAN	ADRM1	HGNC	.	.	UPI0000125605	SNV	ADRM1,missense_variant,p.Thr2Ala,ENST00000253003,;RP11-157P1.4,downstream_gene_variant,,ENST00000414042,;ADRM1,non_coding_transcript_exon_variant,,ENST00000491935,;ADRM1,non_coding_transcript_exon_variant,,ENST00000462554,;ADRM1,upstream_gene_variant,,ENST00000465805,;LAMA5,downstream_gene_variant,,ENST00000492698,;	50	23	21	SUCCESS
BAGE2	85319	.	GRCh37	21	11049496	11049496	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	229	14	229	0	ENST00000470054.1:n.613C>T		p.*205*	ENST00000470054				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TGCACGTTTTA	NONE	.	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	613	229	244	SUCCESS
LCA5L	150082	.	GRCh37	21	40800132	40800132	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	116	281	0	ENST00000288350.3:c.288A>G	p.Lys96=	p.K96=	ENST00000288350		96	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS13665.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTTTTCTT	NONE	.	.	hmmpanther:PTHR16650:SF9,hmmpanther:PTHR16650,Low_complexity_(Seg):seg	.	.	ENSP00000351008	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000358268	Transcript	.	.	ENSG00000157578	1255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCA5L_HUMAN	LCA5L	HGNC	C9JYR0_HUMAN,C9JRD7_HUMAN,C9JIJ8_HUMAN,C9JFB6_HUMAN,C9J9Z3_HUMAN,C9J5D2_HUMAN,C9J293_HUMAN,C9J198_HUMAN	.	UPI00000015EE	SNV	LCA5L,synonymous_variant,p.%3D,ENST00000448288,;LCA5L,synonymous_variant,p.%3D,ENST00000418018,;LCA5L,synonymous_variant,p.%3D,ENST00000288350,;LCA5L,synonymous_variant,p.%3D,ENST00000358268,;LCA5L,synonymous_variant,p.%3D,ENST00000485895,;LCA5L,synonymous_variant,p.%3D,ENST00000380671,;LCA5L,downstream_gene_variant,,ENST00000438404,;LCA5L,downstream_gene_variant,,ENST00000434281,;LCA5L,downstream_gene_variant,,ENST00000451131,;LCA5L,downstream_gene_variant,,ENST00000456017,;LCA5L,downstream_gene_variant,,ENST00000411566,;LCA5L,downstream_gene_variant,,ENST00000415863,;LCA5L,downstream_gene_variant,,ENST00000426783,;LCA5L,intron_variant,,ENST00000490184,;WRB,intron_variant,,ENST00000480690,;LCA5L,intron_variant,,ENST00000466954,;WRB,intron_variant,,ENST00000478273,;LCA5L,intron_variant,,ENST00000459939,;LCA5L,intron_variant,,ENST00000484878,;WRB,intron_variant,,ENST00000476914,;LCA5L,downstream_gene_variant,,ENST00000468009,;LCA5L,intron_variant,,ENST00000491625,;	817	281	288	SUCCESS
PCNT	5116	.	GRCh37	21	47773060	47773060	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	89	0	ENST00000359568.5:c.1499A>G	p.Asp500Gly	p.D500G	ENST00000359568	NM_006031.5	500	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS33592.1	1499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGATTTAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	10/47	.	.	.	.	.	.	.	.	.	10/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,missense_variant,p.Asp500Gly,ENST00000359568,;PCNT,non_coding_transcript_exon_variant,,ENST00000466474,;PCNT,non_coding_transcript_exon_variant,,ENST00000483844,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,downstream_gene_variant,,ENST00000490468,;	1606	89	86	SUCCESS
PRR14L	253143	.	GRCh37	22	32111160	32111160	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	219	181	311	1	ENST00000327423.6:c.2665A>C	p.Thr889Pro	p.T889P	ENST00000327423	NM_173566.2	889	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS13900.2	2665	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGTTTTGT	NONE	.	.	hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0	.	.	ENSP00000331845	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000327423	Transcript	.	.	ENSG00000183530	28738	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.405)	.	deleterious(0.04)	.	PR14L_HUMAN	PRR14L	HGNC	C9J9V0_HUMAN	.	UPI0000207582	SNV	PRR14L,missense_variant,p.Thr889Pro,ENST00000434485,;PRR14L,missense_variant,p.Thr889Pro,ENST00000397493,;PRR14L,missense_variant,p.Thr889Pro,ENST00000327423,;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,upstream_gene_variant,,ENST00000431684,;	2855	312	401	SUCCESS
SLC4A10	57282	.	GRCh37	2	162627522	162627522	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1261502891	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	108	0	ENST00000446997.1:c.88C>T	p.Arg30Cys	p.R30C	ENST00000446997	NM_001178015.1	30	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS54411.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCGTTCT	NONE	.	.	hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453	.	.	ENSP00000393066	.	2/27	.	.	.	.	.	.	.	.	COSM3568393,COSM3568392,COSM3568391	2/27	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.891)	.	deleterious(0.01)	1,1,1	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,missense_variant,p.Arg30Cys,ENST00000446997,;SLC4A10,missense_variant,p.Arg30Cys,ENST00000421911,;SLC4A10,missense_variant,p.Arg30Cys,ENST00000272716,;SLC4A10,missense_variant,p.Arg30Cys,ENST00000535165,;SLC4A10,missense_variant,p.Arg30Cys,ENST00000415876,;SLC4A10,missense_variant,p.Arg41Cys,ENST00000375514,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000481721,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000461456,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000482861,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,missense_variant,p.Arg30Cys,ENST00000446228,;	181	108	110	SUCCESS
SLC25A12	8604	.	GRCh37	2	172693690	172693690	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	189	433	1	ENST00000422440.2:c.553A>G	p.Ile185Val	p.I185V	ENST00000422440	NM_003705.4	185	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33327.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATGTCAC	NONE	.	.	PROSITE_profiles:PS50222,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473,Superfamily_domains:SSF47473	.	.	ENSP00000388658	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000422440	Transcript	.	.	ENSG00000115840	10982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.04)	.	CMC1_HUMAN	SLC25A12	HGNC	.	.	UPI0000070D4E	SNV	SLC25A12,missense_variant,p.Ile185Val,ENST00000422440,;SLC25A12,missense_variant,p.Ile78Val,ENST00000392592,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,3_prime_UTR_variant,,ENST00000426896,;SLC25A12,3_prime_UTR_variant,,ENST00000475360,;SLC25A12,upstream_gene_variant,,ENST00000485880,;	591	434	459	SUCCESS
APOB	338	.	GRCh37	2	21231993	21231994	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CTCTACC	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	107	32	151	0	ENST00000233242.1:c.7740_7746dup	p.Gln2583GlyfsTer9	p.Q2583Gfs*9	ENST00000233242	NM_000384.2	2582	-/GGTAGAG	0	.	.	.	.	.	CTCTACC	-/GRX	protein_coding	YES	CCDS1703.1	7746-7747	INDELOCATOR|VARSCANI	.	CCCTTGCTCTA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.Gln2583GlyfsTer9,ENST00000233242,;	7874-7875	151	140	SUCCESS
C2orf62	0	.	GRCh37	2	219222266	219222286	+	frameshift_variant	Frame_Shift_Del	DEL	AGCTACAGATGCTGTTCTTCT	AGCTACAGATGCTGTTCTTCT	GG	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	AGCTACAGATGCTGTTCTTCT	AGCTACAGATGCTGTTCTTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	76	0	ENST00000289388.3:c.128_148delinsGG	p.Glu43GlyfsTer18	p.E43Gfs*18	ENST00000289388	NM_198559.1	43	gAGCTACAGATGCTGTTCTTCTct/gGGct	0	.	.	.	.	.	GG	ELQMLFFS/GX	protein_coding	YES	CCDS2414.1	128-148	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	AGGAGGAGCTACAGATGCTGTTCTTCTCTGAG	NONE	.	.	hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2	.	.	ENSP00000289388	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000289388	Transcript	.	.	ENSG00000158428	25062	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB062_HUMAN	C2orf62	HGNC	.	.	UPI000019B2D3	substitution	C2orf62,frameshift_variant,p.Glu43GlyfsTer18,ENST00000289388,;AC021016.8,intron_variant,,ENST00000411433,;C2orf62,upstream_gene_variant,,ENST00000481940,;C2orf62,non_coding_transcript_exon_variant,,ENST00000480532,;C2orf62,non_coding_transcript_exon_variant,,ENST00000495773,;AC021016.7,downstream_gene_variant,,ENST00000414167,;	157-177	76	37	SUCCESS
CLEC4F	165530	.	GRCh37	2	71047619	71047619	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs575554427	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	40	92	0	ENST00000272367.2:c.37C>A	p.Gln13Lys	p.Q13K	ENST00000272367	NM_001258027.1	13	Cag/Aag	0	.	C:0	.	C:0	.	T	Q/K	protein_coding	YES	CCDS1910.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTGGTTAT	NONE	by1000G	.	.	C:0	.	ENSP00000272367	C:0	1/7	.	.	.	.	.	.	.	.	rs575554427	1/7	PASS	ENST00000272367	Transcript	.	C:0.0002	ENSG00000152672	25357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	C:0.001	deleterious(0.01)	.	CLC4F_HUMAN	CLEC4F	HGNC	.	.	UPI0000376BCC	SNV	CLEC4F,missense_variant,p.Gln13Lys,ENST00000426626,;CLEC4F,missense_variant,p.Gln13Lys,ENST00000272367,;	114	92	80	SUCCESS
DNAH6	1768	.	GRCh37	2	85043137	85043137	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	81	236	0	ENST00000237449.6:c.12303G>A	p.Lys4101=	p.K4101=	ENST00000237449		4101	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS46348.1	12303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAAGCCAAG	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374045	.	76/77	.	.	.	.	.	.	.	.	.	76/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,synonymous_variant,p.%3D,ENST00000237449,;DNAH6,synonymous_variant,p.%3D,ENST00000389394,;	12440	236	216	SUCCESS
PLXNA1	5361	.	GRCh37	3	126733602	126733602	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	87	0	ENST00000393409.2:c.2805C>A	p.Ala935=	p.A935=	ENST00000393409	NM_032242.3	935	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33847.2	2805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCCTGGT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000377061	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,synonymous_variant,p.%3D,ENST00000393409,;PLXNA1,synonymous_variant,p.%3D,ENST00000251772,;	2805	87	72	SUCCESS
TSC22D2	9819	.	GRCh37	3	150128513	150128513	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770021846	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	37	0	ENST00000361875.3:c.1376C>T	p.Pro459Leu	p.P459L	ENST00000361875	NM_014779.2	459	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3149.1	1376	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCGGCTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12348:SF19,hmmpanther:PTHR12348	.	.	ENSP00000354543	.	1/4	.	.	.	.	.	.	.	.	rs770021846	1/4	PASS	ENST00000361875	Transcript	.	.	ENSG00000196428	29095	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.47)	.	T22D2_HUMAN	TSC22D2	HGNC	.	.	UPI00000722E0	SNV	TSC22D2,missense_variant,p.Pro459Leu,ENST00000361875,;TSC22D2,missense_variant,p.Pro459Leu,ENST00000361136,;TSC22D2,upstream_gene_variant,,ENST00000466814,;TSC22D2,upstream_gene_variant,,ENST00000480589,;TSC22D2,upstream_gene_variant,,ENST00000485421,;	2392	37	36	SUCCESS
FNDC3B	64778	.	GRCh37	3	172098773	172098773	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	97	0	ENST00000336824.4:c.3193T>C	p.Leu1065=	p.L1065=	ENST00000336824	NM_001135095.1	1065	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3217.1	3193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGTTAGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000338523	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000336824	Transcript	.	.	ENSG00000075420	24670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FND3B_HUMAN	FNDC3B	HGNC	.	.	UPI00001AE8B2	SNV	FNDC3B,synonymous_variant,p.%3D,ENST00000416957,;FNDC3B,synonymous_variant,p.%3D,ENST00000415807,;FNDC3B,synonymous_variant,p.%3D,ENST00000336824,;	3292	97	93	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1057519886	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	74	217	0	ENST00000349496.5:c.97T>G	p.Ser33Ala	p.S33A	ENST00000349496	NM_001904.3	33	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS2694.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTCTGGA	SITE|p.S33A|c.97T>G|20,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32V|c.95A>T|41,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.D32E|c.96C>A|3,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5682,COSM5683,COSM27311	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.847)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Ala,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Ala,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Ala,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	377	217	168	SUCCESS
CHL1	10752	.	GRCh37	3	440785	440785	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	246	180	348	0	ENST00000397491.2:c.3291A>T	p.Leu1097Phe	p.L1097F	ENST00000397491		1097	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2556.1	3339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTATTAAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	.	.	ENSP00000256509	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.02)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Leu1097Phe,ENST00000397491,;CHL1,missense_variant,p.Leu247Phe,ENST00000445697,;CHL1,missense_variant,p.Leu1113Phe,ENST00000256509,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	3981	348	426	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121534	135121534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	84	155	0	ENST00000421491.3:c.641G>T	p.Gly214Val	p.G214V	ENST00000421491		214	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	.	815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCCATAT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252,PROSITE_profiles:PS50102	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,missense_variant,p.Gly214Val,ENST00000421491,;PABPC4L,missense_variant,p.Gly272Val,ENST00000529122,;	898	155	188	SUCCESS
EDNRA	1909	.	GRCh37	4	148457097	148457097	+	synonymous_variant	Silent	SNP	G	G	A	rs200693894	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	113	290	0	ENST00000324300.5:c.816G>A	p.Ala272=	p.A272=	ENST00000324300	NM_001957.3	272	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3769.1	816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGATCTT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF31,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00366,Prints_domain:PR00237	.	.	ENSP00000315011	.	5/8	.	.	.	.	.	.	.	.	rs200693894	5/8	PASS	ENST00000324300	Transcript	1	.	ENSG00000151617	3179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDNRA_HUMAN	EDNRA	HGNC	.	.	UPI00000503F9	SNV	EDNRA,synonymous_variant,p.%3D,ENST00000511804,;EDNRA,synonymous_variant,p.%3D,ENST00000358556,;EDNRA,synonymous_variant,p.%3D,ENST00000324300,;EDNRA,synonymous_variant,p.%3D,ENST00000506066,;EDNRA,3_prime_UTR_variant,,ENST00000339690,;EDNRA,non_coding_transcript_exon_variant,,ENST00000503721,;EDNRA,downstream_gene_variant,,ENST00000514245,;EDNRA,3_prime_UTR_variant,,ENST00000510697,;	1331	291	270	SUCCESS
RFC1	5981	.	GRCh37	4	39310299	39310299	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	298	235	573	0	ENST00000381897.1:c.1842G>T	p.Trp614Cys	p.W614C	ENST00000381897	NM_002913.4	614	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS56329.1	1842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCCAGCG	NONE	.	.	hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,Gene3D:3.40.50.300,PIRSF_domain:PIRSF036578,Superfamily_domains:SSF52540	.	.	ENSP00000371321	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000381897	Transcript	.	.	ENSG00000035928	9969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RFC1_HUMAN	RFC1	HGNC	.	.	UPI0000167BB4	SNV	RFC1,missense_variant,p.Trp614Cys,ENST00000381897,;RFC1,missense_variant,p.Trp614Cys,ENST00000349703,;RFC1,intron_variant,,ENST00000504554,;RFC1,non_coding_transcript_exon_variant,,ENST00000502706,;RFC1,downstream_gene_variant,,ENST00000509084,;	1976	573	534	SUCCESS
CDO1	1036	.	GRCh37	5	115146946	115146946	+	synonymous_variant	Silent	SNP	T	T	C	rs1303630549	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	112	286	0	ENST00000250535.4:c.315A>G	p.Thr105=	p.T105=	ENST00000250535	NM_001801.2	105	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4121.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAATGTCTC	NONE	.	.	hmmpanther:PTHR12918,hmmpanther:PTHR12918:SF0,Pfam_domain:PF05995,Gene3D:2.60.120.10,Superfamily_domains:SSF51182	.	.	ENSP00000250535	.	3/5	.	.	.	.	.	.	.	.	COSM1059863	3/5	PASS	ENST00000250535	Transcript	.	.	ENSG00000129596	1795	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CDO1_HUMAN	CDO1	HGNC	.	.	UPI000016A7B9	SNV	CDO1,synonymous_variant,p.%3D,ENST00000250535,;CDO1,non_coding_transcript_exon_variant,,ENST00000502631,;CDO1,downstream_gene_variant,,ENST00000504613,;CDO1,downstream_gene_variant,,ENST00000504877,;	872	286	289	SUCCESS
PCDHA3	56145	.	GRCh37	5	140182753	140182753	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	42	120	0	ENST00000522353.2:c.1971C>G	p.Pro657=	p.P657=	ENST00000522353	NM_018906.2	657	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS54915.1	1971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCCTCATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,synonymous_variant,p.%3D,ENST00000532566,;PCDHA3,synonymous_variant,p.%3D,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA4,upstream_gene_variant,,ENST00000530339,;PCDHA4,upstream_gene_variant,,ENST00000356878,;PCDHA4,upstream_gene_variant,,ENST00000512229,;	1971	120	92	SUCCESS
LCP2	3937	.	GRCh37	5	169685155	169685155	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	56	125	0	ENST00000046794.5:c.986T>C	p.Leu329Ser	p.L329S	ENST00000046794	NM_005565.3	329	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS47339.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAAAGGT	NONE	.	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1	.	.	ENSP00000046794	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0)	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,missense_variant,p.Leu124Ser,ENST00000521416,;LCP2,missense_variant,p.Leu96Ser,ENST00000520344,;LCP2,missense_variant,p.Leu329Ser,ENST00000046794,;LCP2,non_coding_transcript_exon_variant,,ENST00000523369,;	1602	125	136	SUCCESS
STK10	6793	.	GRCh37	5	171615063	171615063	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	24	0	ENST00000176763.5:c.-17C>G		p.*6*	ENST00000176763	NM_005990.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34290.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGGCGCCG	NONE	.	.	.	.	.	ENSP00000176763	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000176763	Transcript	1	.	ENSG00000072786	11388	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK10_HUMAN	STK10	HGNC	.	.	UPI0000136104	SNV	STK10,5_prime_UTR_variant,,ENST00000176763,;	328	24	31	SUCCESS
SIMC1	375484	.	GRCh37	5	175772304	175772304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	63	151	0	ENST00000443967.1:c.2475C>A	p.Phe825Leu	p.F825L	ENST00000443967		825	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS4398.2	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCCGCAG	NONE	.	.	hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3	.	.	ENSP00000342075	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,missense_variant,p.Phe825Leu,ENST00000443967,;SIMC1,missense_variant,p.Phe410Leu,ENST00000430704,;SIMC1,missense_variant,p.Phe286Leu,ENST00000332772,;SIMC1,missense_variant,p.Phe410Leu,ENST00000341199,;KIAA1191,downstream_gene_variant,,ENST00000533553,;KIAA1191,downstream_gene_variant,,ENST00000393725,;KIAA1191,downstream_gene_variant,,ENST00000510164,;KIAA1191,downstream_gene_variant,,ENST00000298569,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,downstream_gene_variant,,ENST00000393728,;	1377	151	153	SUCCESS
SIMC1	375484	.	GRCh37	5	175772305	175772305	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	63	149	0	ENST00000443967.1:c.2476C>A	p.Arg826Ser	p.R826S	ENST00000443967		826	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4398.2	1231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCGCAGC	NONE	.	.	hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3	.	.	ENSP00000342075	.	9/9	.	.	.	.	.	.	.	.	COSM3340264,COSM3853822	9/9	PASS	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.39)	.	tolerated(0.4)	1,1	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,missense_variant,p.Arg826Ser,ENST00000443967,;SIMC1,missense_variant,p.Arg411Ser,ENST00000430704,;SIMC1,missense_variant,p.Arg287Ser,ENST00000332772,;SIMC1,missense_variant,p.Arg411Ser,ENST00000341199,;KIAA1191,downstream_gene_variant,,ENST00000533553,;KIAA1191,downstream_gene_variant,,ENST00000393725,;KIAA1191,downstream_gene_variant,,ENST00000510164,;KIAA1191,downstream_gene_variant,,ENST00000298569,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,downstream_gene_variant,,ENST00000393728,;	1378	149	155	SUCCESS
TNPO1	3842	.	GRCh37	5	72168474	72168474	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	98	251	0	ENST00000337273.5:c.605C>T	p.Ala202Val	p.A202V	ENST00000337273	NM_002270.3	202	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43329.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGCTGTTG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527	.	.	ENSP00000336712	.	7/25	.	.	.	.	.	.	.	.	COSM1438477	7/25	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.808)	.	deleterious(0.01)	1	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	SNV	TNPO1,missense_variant,p.Ala194Val,ENST00000506351,;TNPO1,missense_variant,p.Ala152Val,ENST00000454282,;TNPO1,missense_variant,p.Ala152Val,ENST00000523768,;TNPO1,missense_variant,p.Ala202Val,ENST00000337273,;TNPO1,synonymous_variant,p.%3D,ENST00000447967,;TNPO1,non_coding_transcript_exon_variant,,ENST00000508762,;TNPO1,non_coding_transcript_exon_variant,,ENST00000506528,;TNPO1,upstream_gene_variant,,ENST00000505082,;TNPO1,synonymous_variant,p.%3D,ENST00000520850,;	1031	251	218	SUCCESS
TTC37	9652	.	GRCh37	5	94839530	94839530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	62	170	0	ENST00000358746.2:c.3205G>A	p.Glu1069Lys	p.E1069K	ENST00000358746	NM_014639.3	1069	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4072.1	3205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCTTTAT	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR15704,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452	.	.	ENSP00000351596	.	31/43	.	.	.	.	.	.	.	.	.	31/43	PASS	ENST00000358746	Transcript	1	.	ENSG00000198677	23639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.484)	.	tolerated(0.05)	.	TTC37_HUMAN	TTC37	HGNC	D6RDA0_HUMAN	.	UPI00000709BD	SNV	TTC37,missense_variant,p.Glu1069Lys,ENST00000358746,;TTC37,downstream_gene_variant,,ENST00000515176,;TTC37,non_coding_transcript_exon_variant,,ENST00000508181,;TTC37,downstream_gene_variant,,ENST00000507805,;TTC37,downstream_gene_variant,,ENST00000512026,;	3504	170	152	SUCCESS
ITPR3	3710	.	GRCh37	6	33657110	33657110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	96	0	ENST00000374316.5:c.6790C>A	p.Leu2264Ile	p.L2264I	ENST00000374316		2264	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS4783.1	6790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCTCATC	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	51/59	.	.	.	.	.	.	.	.	.	51/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.09)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Leu2264Ile,ENST00000374316,;ITPR3,missense_variant,p.Leu2264Ile,ENST00000605930,;UQCC2,downstream_gene_variant,,ENST00000606961,;	7850	96	63	SUCCESS
CYP39A1	51302	.	GRCh37	6	46607278	46607278	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	139	321	0	ENST00000275016.2:c.441G>A	p.Leu147=	p.L147=	ENST00000275016	NM_001278739.1	147	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4916.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCAGTTG	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264	.	.	ENSP00000275016	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000275016	Transcript	.	.	ENSG00000146233	17449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP39A_HUMAN	CYP39A1	HGNC	.	.	UPI000013DA3D	SNV	CYP39A1,synonymous_variant,p.%3D,ENST00000275016,;CYP39A1,upstream_gene_variant,,ENST00000480804,;	645	321	329	SUCCESS
DST	667	.	GRCh37	6	56470829	56470829	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	89	203	0	ENST00000244364.6:c.3672+4396G>T		p.*1224*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTACAACTG	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	25/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Cys2329Phe,ENST00000439203,;DST,missense_variant,p.Cys2329Phe,ENST00000446842,;DST,missense_variant,p.Cys2833Phe,ENST00000370754,;DST,missense_variant,p.Cys2655Phe,ENST00000361203,;DST,missense_variant,p.Cys2655Phe,ENST00000370769,;DST,missense_variant,p.Cys2655Phe,ENST00000312431,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000421834,;	.	203	243	SUCCESS
NRCAM	4897	.	GRCh37	7	107824934	107824934	+	synonymous_variant	Silent	SNP	G	G	A	rs1379623312	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	38	94	0	ENST00000379028.3:c.2160C>T	p.Arg720=	p.R720=	ENST00000379028		720	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47686.1	2160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACGCGGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000368314	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,synonymous_variant,p.%3D,ENST00000413765,;NRCAM,synonymous_variant,p.%3D,ENST00000379022,;NRCAM,synonymous_variant,p.%3D,ENST00000379024,;NRCAM,synonymous_variant,p.%3D,ENST00000351718,;NRCAM,synonymous_variant,p.%3D,ENST00000379028,;NRCAM,synonymous_variant,p.%3D,ENST00000425651,;	2631	94	100	SUCCESS
HYAL4	23553	.	GRCh37	7	123508467	123508467	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1481630944	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	65	148	0	ENST00000223026.4:c.140C>A	p.Pro47His	p.P47H	ENST00000223026	NM_012269.2	47	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS5789.1	140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCTTTTA	NONE	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,Pfam_domain:PF01630,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7	.	.	ENSP00000223026	.	3/5	.	.	.	.	.	.	.	.	COSM1084956	3/5	PASS	ENST00000223026	Transcript	.	.	ENSG00000106302	5323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	HYAL4_HUMAN	HYAL4	HGNC	C9JU18_HUMAN,C9J6F9_HUMAN	.	UPI000006F62B	SNV	HYAL4,missense_variant,p.Pro47His,ENST00000223026,;HYAL4,missense_variant,p.Pro47His,ENST00000489978,;HYAL4,missense_variant,p.Pro47His,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,missense_variant,p.Pro47His,ENST00000483878,;	778	148	149	SUCCESS
KMT2C	58508	.	GRCh37	7	151962169	151962169	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	319	15	376	0	ENST00000262189.6:c.1138C>T	p.Arg380Cys	p.R380C	ENST00000262189	NM_170606.2	380	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5931.1	1138	MUTECT|MUSE	.	TGCACGTTTTA	CODON|p.R380L|c.1139G>T|3,CODON|p.R380L|c.1139G>T|3,BUFFER|p.P377P|c.1131A>T|3,BUFFER|p.P377P|c.1131A>T|3	.	.	PROSITE_profiles:PS50089,PROSITE_profiles:PS50016,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000262189	.	8/59	.	.	.	.	.	.	.	.	COSM302656,COSM302657	8/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	.	.	1,1	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Arg380Cys,ENST00000355193,;KMT2C,missense_variant,p.Arg380Cys,ENST00000262189,;KMT2C,missense_variant,p.Arg380Cys,ENST00000558084,;	1357	376	334	SUCCESS
CDK13	8621	.	GRCh37	7	40085553	40085553	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	64	110	0	ENST00000181839.4:c.2472T>C	p.Gly824=	p.G824=	ENST00000181839	NM_031267.3	824	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS5461.1	2472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGTCTGGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF125,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000181839	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000181839	Transcript	.	.	ENSG00000065883	1733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK13_HUMAN	CDK13	HGNC	.	.	UPI000013C5E3	SNV	CDK13,synonymous_variant,p.%3D,ENST00000340829,;CDK13,synonymous_variant,p.%3D,ENST00000181839,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;	3077	110	138	SUCCESS
PHTF2	57157	.	GRCh37	7	77569480	77569480	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	305	176	427	1	ENST00000248550.7:c.1601C>A	p.Ser534Ter	p.S534*	ENST00000248550		534	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS47621.1	1499	RADIA|SOMATICSNIPER|VARSCANS	.	TGCTTCAGAAC	NONE	.	.	hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,stop_gained,p.Ser500Ter,ENST00000416283,;PHTF2,stop_gained,p.Ser500Ter,ENST00000422959,;PHTF2,stop_gained,p.Ser534Ter,ENST00000248550,;PHTF2,stop_gained,p.Ser496Ter,ENST00000307305,;PHTF2,stop_gained,p.Ser496Ter,ENST00000275575,;PHTF2,stop_gained,p.Ser496Ter,ENST00000424760,;PHTF2,upstream_gene_variant,,ENST00000470215,;PHTF2,downstream_gene_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;	1625	429	481	SUCCESS
SMURF1	57154	.	GRCh37	7	98655111	98655111	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	79	201	0	ENST00000361125.1:c.267del	p.Lys89AsnfsTer20	p.K89Nfs*20	ENST00000361125	NM_020429.2	89	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS34690.1	267	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCTGTTTCTT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF293,Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF001569,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000354621	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000361125	Transcript	.	.	ENSG00000198742	16807	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMUF1_HUMAN	SMURF1	HGNC	D6W5S0_HUMAN	.	UPI00000015C4	deletion	SMURF1,frameshift_variant,p.Lys89AsnfsTer20,ENST00000361125,;SMURF1,frameshift_variant,p.Lys89AsnfsTer20,ENST00000361368,;SMURF1,non_coding_transcript_exon_variant,,ENST00000480055,;SMURF1,non_coding_transcript_exon_variant,,ENST00000472627,;	587	201	210	SUCCESS
EXD3	54932	.	GRCh37	9	140201464	140201464	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	49	0	ENST00000340951.4:c.2569G>T	p.Glu857Ter	p.E857*	ENST00000340951	NM_017820.3	857	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS48066.1	2569	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCAGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000340474	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000340951	Transcript	.	.	ENSG00000187609	26023	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MUT7_HUMAN	EXD3	HGNC	E9PI94_HUMAN	.	UPI00003676BC	SNV	EXD3,stop_gained,p.Glu857Ter,ENST00000340951,;EXD3,stop_gained,p.Glu495Ter,ENST00000342129,;NRARP,upstream_gene_variant,,ENST00000356628,;EXD3,3_prime_UTR_variant,,ENST00000491734,;EXD3,non_coding_transcript_exon_variant,,ENST00000487745,;	2765	49	30	SUCCESS
PNMA3	29944	.	GRCh37	X	152225435	152225435	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	96	69	1	ENST00000424805.1:c.23A>G	p.Asp8Gly	p.D8G	ENST00000424805		8	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS35435.2	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGACTGGT	NONE	.	.	hmmpanther:PTHR23095:SF22,hmmpanther:PTHR23095,Pfam_domain:PF14893	.	.	ENSP00000407642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000447306	Transcript	.	.	ENSG00000183837	18742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0.01)	.	PNMA3_HUMAN	PNMA3	HGNC	.	.	UPI00002123C6	SNV	PNMA3,missense_variant,p.Asp8Gly,ENST00000447306,;PNMA3,missense_variant,p.Asp8Gly,ENST00000370264,;PNMA3,missense_variant,p.Asp8Gly,ENST00000370265,;PNMA3,missense_variant,p.Asp8Gly,ENST00000424805,;U82670.9,upstream_gene_variant,,ENST00000421099,;	359	70	108	SUCCESS
CNNM1	26507	.	GRCh37	10	101120689	101120689	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	31	0	ENST00000356713.4:c.1815C>A	p.Ile605=	p.I605=	ENST00000356713	NM_020348.2	605	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7478.2	1815	RADIA|VARSCANS	.	AAGATCTCACC	NONE	.	.	hmmpanther:PTHR12064:SF28,hmmpanther:PTHR12064	.	.	ENSP00000349147	.	3/11	.	.	.	.	.	.	.	.	.	3/11	oxog	ENST00000356713	Transcript	.	.	ENSG00000119946	102	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNNM1_HUMAN	CNNM1	HGNC	F2YHU6_HUMAN,B3KPD2_HUMAN	.	UPI0000E19A44	SNV	CNNM1,synonymous_variant,p.%3D,ENST00000370534,;CNNM1,synonymous_variant,p.%3D,ENST00000446890,;CNNM1,synonymous_variant,p.%3D,ENST00000370528,;CNNM1,synonymous_variant,p.%3D,ENST00000356713,;	2104	31	35	SUCCESS
PLEKHA1	59338	.	GRCh37	10	124166157	124166157	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757740700	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	56	138	0	ENST00000368990.3:c.310G>T	p.Val104Leu	p.V104L	ENST00000368990	NM_001001974.2	104	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS7629.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGTAAAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14336,hmmpanther:PTHR14336:SF4,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000357986	.	5/12	.	.	.	.	.	.	.	.	rs757740700	5/12	PASS	ENST00000368990	Transcript	.	.	ENSG00000107679	14335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	deleterious(0.01)	.	PKHA1_HUMAN	PLEKHA1	HGNC	R4GMZ9_HUMAN,B3KQL5_HUMAN	.	UPI000000D9DC	SNV	PLEKHA1,missense_variant,p.Val104Leu,ENST00000392799,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000368988,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000538022,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000368990,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000368989,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000433307,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000463663,;PLEKHA1,intron_variant,,ENST00000494222,;	441	138	131	SUCCESS
CUZD1	50624	.	GRCh37	10	124605313	124605313	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866395304	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	30	0	ENST00000368904.1:c.47C>T	p.Ser16Phe	p.S16F	ENST00000368904		16	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7631.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	AACAGGAGAGA	NONE	.	.	PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000357900	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000368904	Transcript	.	.	ENSG00000138161	17937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.317)	.	tolerated_low_confidence(0.07)	.	CUZD1_HUMAN	CUZD1	HGNC	.	.	UPI000004C655	SNV	CUZD1,missense_variant,p.Ser16Phe,ENST00000392790,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368904,;CUZD1,missense_variant,p.Ser16Phe,ENST00000545804,;FAM24B,downstream_gene_variant,,ENST00000368896,;FAM24B,downstream_gene_variant,,ENST00000368898,;FAM24B,downstream_gene_variant,,ENST00000462859,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368900,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368901,;CUZD1,missense_variant,p.Ser16Phe,ENST00000338948,;	997	30	17	SUCCESS
DOCK1	1793	.	GRCh37	10	128850978	128850978	+	synonymous_variant	Silent	SNP	C	C	T	rs369997788	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	65	0	ENST00000280333.6:c.2172C>T	p.Asp724=	p.D724=	ENST00000280333	NM_001380.3	724	gaC/gaT	0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	.	2172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGACGGTGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371	T:0.005	T:0.0001	ENSP00000280333	T:0	22/52	.	.	.	.	.	.	.	.	rs369997788	22/52	PASS	ENST00000280333	Transcript	.	T:0.0010	ENSG00000150760	2987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,synonymous_variant,p.%3D,ENST00000280333,;	2281	65	64	SUCCESS
PSAP	5660	.	GRCh37	10	73610968	73610968	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	50	0	ENST00000394936.3:c.11T>A	p.Leu4His	p.L4H	ENST00000394936		4	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7311.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAGGGCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF36,PIRSF_domain:PIRSF002431	.	.	ENSP00000378394	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000394936	Transcript	1	.	ENSG00000197746	9498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious(0)	.	SAP_HUMAN	PSAP	HGNC	.	.	UPI0000000DBF	SNV	PSAP,missense_variant,p.Leu4His,ENST00000394934,;PSAP,missense_variant,p.Leu4His,ENST00000394936,;	159	50	46	SUCCESS
HMBS	3145	.	GRCh37	11	118963906	118963907	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	25	0	ENST00000278715.3:c.999_1000del	p.Leu334GlyfsTer24	p.L334Gfs*24	ENST00000278715	NM_000190.3	333	aaCTtg/aatg	0	.	.	.	.	.	-	NL/NX	protein_coding	YES	CCDS8409.1	999-1000	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGAACTTGGGC	NONE	.	.	Superfamily_domains:0047053,PIRSF_domain:PIRSF001438,Gene3D:1gtkA03,hmmpanther:PTHR11557,HAMAP:MF_00260	.	.	ENSP00000278715	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000278715	Transcript	.	.	ENSG00000256269	4982	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEM3_HUMAN	HMBS	HGNC	Q68Y91_HUMAN,Q0G847_HUMAN,F5GY90_HUMAN,B5U9V4_HUMAN	.	UPI000012C47A	deletion	HMBS,frameshift_variant,p.Leu317GlyfsTer24,ENST00000392841,;HMBS,frameshift_variant,p.Leu277GlyfsTer24,ENST00000542729,;HMBS,frameshift_variant,p.Leu317GlyfsTer24,ENST00000442944,;HMBS,frameshift_variant,p.Leu303GlyfsTer24,ENST00000543090,;HMBS,frameshift_variant,p.Leu334GlyfsTer24,ENST00000278715,;HMBS,frameshift_variant,p.Leu294GlyfsTer24,ENST00000544387,;HMBS,frameshift_variant,p.Leu317GlyfsTer24,ENST00000537841,;H2AFX,downstream_gene_variant,,ENST00000530167,;HMBS,downstream_gene_variant,,ENST00000546302,;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000536813,;HMBS,downstream_gene_variant,,ENST00000535253,;DPAGT1,downstream_gene_variant,,ENST00000409993,;DPAGT1,downstream_gene_variant,,ENST00000354202,;DPAGT1,downstream_gene_variant,,ENST00000432443,;HMBS,downstream_gene_variant,,ENST00000536185,;HMBS,downstream_gene_variant,,ENST00000534956,;HMBS,non_coding_transcript_exon_variant,,ENST00000543543,;HMBS,non_coding_transcript_exon_variant,,ENST00000539045,;HMBS,non_coding_transcript_exon_variant,,ENST00000542044,;HMBS,non_coding_transcript_exon_variant,,ENST00000546226,;HMBS,non_coding_transcript_exon_variant,,ENST00000544182,;HMBS,downstream_gene_variant,,ENST00000535793,;HMBS,downstream_gene_variant,,ENST00000542345,;DPAGT1,downstream_gene_variant,,ENST00000525456,;HMBS,downstream_gene_variant,,ENST00000543821,;DPAGT1,downstream_gene_variant,,ENST00000442480,;HMBS,downstream_gene_variant,,ENST00000544360,;DPAGT1,downstream_gene_variant,,ENST00000530052,;HMBS,downstream_gene_variant,,ENST00000545901,;DPAGT1,downstream_gene_variant,,ENST00000392834,;DPAGT1,downstream_gene_variant,,ENST00000524658,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000461999,;HMBS,downstream_gene_variant,,ENST00000542822,;H2AFX,downstream_gene_variant,,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000414373,;DPAGT1,downstream_gene_variant,,ENST00000533687,;HMBS,downstream_gene_variant,,ENST00000545621,;	1150-1151	25	22	SUCCESS
MOB2	81532	.	GRCh37	11	1491556	1491556	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs565130082	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	80	0	ENST00000329957.6:c.653G>A	p.Arg218Gln	p.R218Q	ENST00000329957	NM_001172223.1	218	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS53591.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCGAGCA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF21,Pfam_domain:PF03637,Gene3D:1pi1A00,Superfamily_domains:0049093	T:0.002	.	ENSP00000328694	T:0	5/5	.	.	.	.	.	.	.	.	rs565130082	5/5	PASS	ENST00000329957	Transcript	.	T:0.0004	ENSG00000182208	24904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	T:0	tolerated(0.11)	.	MOB2_HUMAN	MOB2	HGNC	.	.	UPI00000373CD	SNV	MOB2,missense_variant,p.Arg218Gln,ENST00000329957,;MOB2,non_coding_transcript_exon_variant,,ENST00000526462,;MOB2,non_coding_transcript_exon_variant,,ENST00000531976,;MOB2,downstream_gene_variant,,ENST00000526698,;	843	80	55	SUCCESS
HNRNPUL2	221092	.	GRCh37	11	62491884	62491884	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	39	116	0	ENST00000301785.5:c.553A>C	p.Ser185Arg	p.S185R	ENST00000301785	NM_001079559.2	185	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS41659.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTATCCT	NONE	.	.	hmmpanther:PTHR12381:SF43,hmmpanther:PTHR12381	.	.	ENSP00000301785	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000301785	Transcript	.	.	ENSG00000214753	25451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.52)	.	HNRL2_HUMAN	HNRNPUL2	HGNC	.	.	UPI0000161949	SNV	HNRNPUL2,missense_variant,p.Ser185Arg,ENST00000301785,;TTC9C,upstream_gene_variant,,ENST00000530625,;TTC9C,upstream_gene_variant,,ENST00000513247,;TTC9C,upstream_gene_variant,,ENST00000316461,;TTC9C,upstream_gene_variant,,ENST00000532583,;HNRNPUL2-BSCL2,missense_variant,p.Ser185Arg,ENST00000403734,;TTC9C,upstream_gene_variant,,ENST00000294161,;HNRNPUL2,upstream_gene_variant,,ENST00000540127,;	746	117	82	SUCCESS
NRXN2	9379	.	GRCh37	11	64434897	64434897	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	40	0	ENST00000265459.6:c.1623A>G	p.Gly541=	p.G541=	ENST00000265459	NM_015080.3	541	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8077.1	1623	RADIA|VARSCANS	.	CCAGCTCCACC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000265459	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000265459	Transcript	.	.	ENSG00000110076	8009	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRX2A_HUMAN	NRXN2	HGNC	.	.	UPI0000130AA2	SNV	NRXN2,synonymous_variant,p.%3D,ENST00000377551,;NRXN2,synonymous_variant,p.%3D,ENST00000265459,;NRXN2,synonymous_variant,p.%3D,ENST00000409571,;NRXN2,synonymous_variant,p.%3D,ENST00000377559,;NRXN2,downstream_gene_variant,,ENST00000417749,;NRXN2,downstream_gene_variant,,ENST00000442300,;NRXN2,downstream_gene_variant,,ENST00000437746,;	2085	40	38	SUCCESS
MRPL21	219927	.	GRCh37	11	68664055	68664055	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	69	0	ENST00000362034.2:c.324G>C	p.Val108=	p.V108=	ENST00000362034	NM_181515.1	108	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS8186.1	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCACCTT	NONE	.	.	hmmpanther:PTHR21349,hmmpanther:PTHR21349:SF0,Pfam_domain:PF00829,TIGRFAM_domain:TIGR00061,Superfamily_domains:SSF141091	.	.	ENSP00000354580	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000362034	Transcript	.	.	ENSG00000197345	14479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM21_HUMAN	MRPL21	HGNC	F5H7V8_HUMAN,F5H4R5_HUMAN	.	UPI00001A95D2	SNV	MRPL21,synonymous_variant,p.%3D,ENST00000450904,;MRPL21,synonymous_variant,p.%3D,ENST00000362034,;MRPL21,synonymous_variant,p.%3D,ENST00000567045,;MRPL21,synonymous_variant,p.%3D,ENST00000541279,;MRPL21,3_prime_UTR_variant,,ENST00000541265,;MRPL21,3_prime_UTR_variant,,ENST00000544567,;MRPL21,3_prime_UTR_variant,,ENST00000565125,;MRPL21,downstream_gene_variant,,ENST00000536637,;	334	70	56	SUCCESS
NOX4	50507	.	GRCh37	11	89069054	89069054	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	161	416	0	ENST00000263317.4:c.1575G>C	p.Arg525=	p.R525=	ENST00000263317		525	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS8285.1	1575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACCGAGG	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	.	.	ENSP00000263317	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,synonymous_variant,p.%3D,ENST00000375979,;NOX4,synonymous_variant,p.%3D,ENST00000535633,;NOX4,synonymous_variant,p.%3D,ENST00000527956,;NOX4,synonymous_variant,p.%3D,ENST00000542487,;NOX4,synonymous_variant,p.%3D,ENST00000343727,;NOX4,synonymous_variant,p.%3D,ENST00000413594,;NOX4,synonymous_variant,p.%3D,ENST00000532825,;NOX4,synonymous_variant,p.%3D,ENST00000531342,;NOX4,synonymous_variant,p.%3D,ENST00000527626,;NOX4,synonymous_variant,p.%3D,ENST00000534731,;NOX4,synonymous_variant,p.%3D,ENST00000263317,;NOX4,synonymous_variant,p.%3D,ENST00000525196,;NOX4,synonymous_variant,p.%3D,ENST00000528341,;NOX4,synonymous_variant,p.%3D,ENST00000424319,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000524473,;	1814	416	373	SUCCESS
KIAA1033	0	.	GRCh37	12	105557965	105557965	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	103	0	ENST00000332180.5:c.3234G>A	p.Glu1078=	p.E1078=	ENST00000332180	NM_015275.1	1078	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS41826.1	3234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGAAATA	NONE	.	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14746	.	.	ENSP00000328062	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000332180	Transcript	.	.	ENSG00000136051	29174	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	SNV	KIAA1033,synonymous_variant,p.%3D,ENST00000332180,;KIAA1033,downstream_gene_variant,,ENST00000551224,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000547171,;KIAA1033,downstream_gene_variant,,ENST00000551290,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000550036,;KIAA1033,downstream_gene_variant,,ENST00000550786,;	3321	103	71	SUCCESS
MIR620	693205	.	GRCh37	12	116586413	116586413	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	51	87	0	ENST00000385232.1:n.47A>G		p.*16*	ENST00000385232				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9177.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AGATATCTATA	NONE	.	.	.	.	.	ENSP00000281928	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODIFIER	2/30	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,intron_variant,,ENST00000281928,;MIR620,non_coding_transcript_exon_variant,,ENST00000385232,;MED13L,intron_variant,,ENST00000551197,;	.	87	76	SUCCESS
MLXIP	22877	.	GRCh37	12	122614579	122614579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	58	0	ENST00000319080.7:c.830T>C	p.Leu277Pro	p.L277P	ENST00000319080	NM_014938.4_dupl16	277	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTCATGT	NONE	.	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	.	.	ENSP00000312834	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,missense_variant,p.Leu28Pro,ENST00000535430,;MLXIP,missense_variant,p.Leu277Pro,ENST00000319080,;MLXIP,upstream_gene_variant,,ENST00000366272,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,upstream_gene_variant,,ENST00000377037,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,non_coding_transcript_exon_variant,,ENST00000538061,;MLXIP,downstream_gene_variant,,ENST00000535876,;MLXIP,upstream_gene_variant,,ENST00000541750,;	962	58	63	SUCCESS
HCAR1	27198	.	GRCh37	12	123214801	123214801	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753319794	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	37	0	ENST00000432564.1:c.86G>A	p.Gly29Asp	p.G29D	ENST00000432564	NM_032554.3	29	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9236.1	86	RADIA|VARSCANS	.	GTGCGCCCAGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24231:SF29,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000389255	.	1/2	.	.	.	.	.	.	.	.	rs753319794,COSM135612	1/2	PASS	ENST00000432564	Transcript	.	.	ENSG00000196917	4532	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	HCAR1_HUMAN	HCAR1	HGNC	.	.	UPI000003BC7A	SNV	HCAR1,missense_variant,p.Gly29Asp,ENST00000432564,;HCAR1,missense_variant,p.Gly29Asp,ENST00000356987,;HCAR1,missense_variant,p.Gly29Asp,ENST00000436083,;RP11-324E6.9,upstream_gene_variant,,ENST00000602891,;	329	37	34	SUCCESS
DNAH10	196385	.	GRCh37	12	124377824	124377824	+	synonymous_variant	Silent	SNP	C	C	T	rs1342873412	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	79	1	ENST00000409039.3:c.8686C>T	p.Leu2896=	p.L2896=	ENST00000409039	NM_207437.3	2896	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9255.2	8686	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTATCCTGAGT	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12780,Gene3D:3.40.50.300	.	.	ENSP00000386770	.	52/78	.	.	.	.	.	.	.	.	.	52/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;	8711	80	58	SUCCESS
TMTC1	83857	.	GRCh37	12	29659790	29659790	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757642370	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	47	141	0	ENST00000539277.1:c.2638G>A	p.Asp880Asn	p.D880N	ENST00000539277	NM_001193451.1	880	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS53772.1	2638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCCTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF353	.	.	ENSP00000442046	.	18/18	.	.	.	.	.	.	.	.	rs757642370	18/18	PASS	ENST00000539277	Transcript	.	.	ENSG00000133687	24099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.06)	.	TMTC1_HUMAN	TMTC1	HGNC	B3KVW1_HUMAN	.	UPI0001DD37FA	SNV	TMTC1,missense_variant,p.Asp772Asn,ENST00000256062,;TMTC1,missense_variant,p.Asp942Asn,ENST00000551659,;TMTC1,missense_variant,p.Asp880Asn,ENST00000539277,;TMTC1,missense_variant,p.Asp904Asn,ENST00000552618,;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000552925,;	2697	141	105	SUCCESS
MCRS1	10445	.	GRCh37	12	49960525	49960525	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	49	0	ENST00000343810.4:c.-11A>G		p.*4*	ENST00000343810	NM_006337.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31795.1	.	RADIA|VARSCANS	.	TACAGTCCCAA	NONE	.	303	.	.	.	ENSP00000349640	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357123	Transcript	.	.	ENSG00000187778	6960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCRS1_HUMAN	MCRS1	HGNC	Q7Z372_HUMAN,F8W126_HUMAN	.	UPI0000351552	SNV	MCRS1,5_prime_UTR_variant,,ENST00000548334,;MCRS1,5_prime_UTR_variant,,ENST00000550165,;MCRS1,5_prime_UTR_variant,,ENST00000548596,;MCRS1,5_prime_UTR_variant,,ENST00000343810,;MCRS1,5_prime_UTR_variant,,ENST00000549528,;MCRS1,intron_variant,,ENST00000553173,;MCRS1,intron_variant,,ENST00000546244,;PRPF40B,upstream_gene_variant,,ENST00000551063,;MCRS1,upstream_gene_variant,,ENST00000357123,;PRPF40B,upstream_gene_variant,,ENST00000547764,;MCRS1,upstream_gene_variant,,ENST00000547182,;PRPF40B,upstream_gene_variant,,ENST00000552301,;MCRS1,non_coding_transcript_exon_variant,,ENST00000552206,;MCRS1,non_coding_transcript_exon_variant,,ENST00000551625,;MCRS1,non_coding_transcript_exon_variant,,ENST00000549000,;MCRS1,intron_variant,,ENST00000548602,;	.	49	33	SUCCESS
KRT1	3848	.	GRCh37	12	53071186	53071186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	59	0	ENST00000252244.3:c.1042G>T	p.Asp348Tyr	p.D348Y	ENST00000252244	NM_006121.3	348	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8836.1	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCCAGGT	NONE	.	.	hmmpanther:PTHR23239:SF95,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000252244	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,missense_variant,p.Asp348Tyr,ENST00000252244,;KRT1,non_coding_transcript_exon_variant,,ENST00000548765,;	1101	59	50	SUCCESS
RAB3IP	117177	.	GRCh37	12	70149324	70149324	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	35	78	0	ENST00000550536.1:c.184T>G	p.Ser62Ala	p.S62A	ENST00000550536	NM_175623.3	62	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS8993.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTTCAGCT	NONE	.	.	hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430	.	.	ENSP00000447300	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000550536	Transcript	.	.	ENSG00000127328	16508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious_low_confidence(0.04)	.	RAB3I_HUMAN	RAB3IP	HGNC	F8VNX9_HUMAN	.	UPI000006EB02	SNV	RAB3IP,missense_variant,p.Ser46Ala,ENST00000549760,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000483530,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000362025,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000247833,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000550536,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000378815,;RAB3IP,5_prime_UTR_variant,,ENST00000325555,;RAB3IP,upstream_gene_variant,,ENST00000550647,;RAB3IP,upstream_gene_variant,,ENST00000547055,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000552199,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000378809,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000417413,;RAB3IP,intron_variant,,ENST00000547591,;	641	78	97	SUCCESS
PTPRQ	374462	.	GRCh37	12	80933705	80933705	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	73	0	ENST00000266688.5:c.3124G>A	p.Val1042Ile	p.V1042I	ENST00000266688		1042	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	.	3124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGTATAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	25/50	.	.	.	.	.	.	.	.	.	25/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.22)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Val1042Ile,ENST00000266688,;PTPRQ,downstream_gene_variant,,ENST00000547485,;PTPRQ,upstream_gene_variant,,ENST00000551624,;	3124	73	58	SUCCESS
TMPO	7112	.	GRCh37	12	98938066	98938066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	49	107	0	ENST00000556029.1:c.722G>A	p.Gly241Glu	p.G241E	ENST00000556029	NM_001032283.2	241	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	.	CCDS31879.1	722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGACCTC	NONE	.	.	hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF3	.	.	ENSP00000450627	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000556029	Transcript	.	.	ENSG00000120802	11875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAP2B_HUMAN	TMPO	HGNC	Q9P1N8_HUMAN	.	UPI0000143267	SNV	TMPO,missense_variant,p.Gly241Glu,ENST00000556029,;TMPO,intron_variant,,ENST00000393053,;TMPO,intron_variant,,ENST00000343315,;TMPO,intron_variant,,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000548223,;TMPO,upstream_gene_variant,,ENST00000551987,;	1078	107	98	SUCCESS
ZMYM2	7750	.	GRCh37	13	20567272	20567272	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	92	0	ENST00000382871.2:c.60G>A	p.Gly20=	p.G20=	ENST00000382871		20	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45016.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGGAGTAC	NONE	.	.	.	.	.	ENSP00000372322	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000382869	Transcript	.	.	ENSG00000121741	12989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM2_HUMAN	ZMYM2	HGNC	.	.	UPI000013C318	SNV	ZMYM2,synonymous_variant,p.%3D,ENST00000382881,;ZMYM2,synonymous_variant,p.%3D,ENST00000382869,;ZMYM2,synonymous_variant,p.%3D,ENST00000382871,;ZMYM2,synonymous_variant,p.%3D,ENST00000382874,;	311	92	111	SUCCESS
ATP8A2	51761	.	GRCh37	13	25946367	25946367	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	25	0	ENST00000381655.2:c.17G>T	p.Gly6Val	p.G6V	ENST00000381655	NM_016529.4	6	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41873.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCCTGG	NONE	.	.	.	.	.	ENSP00000371070	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.24)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Gly6Val,ENST00000381655,;	159	25	19	SUCCESS
FARP1	10160	.	GRCh37	13	98896898	98896898	+	intron_variant	Intron	SNP	A	A	G	rs1292717826	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	54	0	ENST00000319562.6:c.171+31231A>G		p.*57*	ENST00000319562	NM_005766.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9487.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACACAAAC	NONE	.	.	.	.	.	ENSP00000322926	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	MODIFIER	2/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,missense_variant,p.Thr109Ala,ENST00000376581,;FARP1,intron_variant,,ENST00000319562,;FARP1,intron_variant,,ENST00000376586,;FARP1,intron_variant,,ENST00000595437,;FARP1,intron_variant,,ENST00000598389,;	.	54	51	SUCCESS
NOVA1	4857	.	GRCh37	14	26917704	26917704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	23	0	ENST00000539517.2:c.985C>A	p.Leu329Ile	p.L329I	ENST00000539517	NM_002515.2	329	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS32061.1	985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGATTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288	.	.	ENSP00000438875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.41)	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,missense_variant,p.Leu329Ile,ENST00000539517,;NOVA1,missense_variant,p.Leu305Ile,ENST00000465357,;NOVA1,missense_variant,p.Leu207Ile,ENST00000267422,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	1303	23	20	SUCCESS
TMEM260	54916	.	GRCh37	14	57070549	57070549	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	60	209	0	ENST00000261556.6:c.361G>A	p.Ala121Thr	p.A121T	ENST00000261556	NM_017799.3	121	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS9727.2	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGCTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16214,Pfam_domain:PF11028	.	.	ENSP00000261556	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	tolerated(0.06)	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,missense_variant,p.Ala121Thr,ENST00000261556,;TMEM260,missense_variant,p.Ala121Thr,ENST00000538838,;TMEM260,intron_variant,,ENST00000536419,;TMEM260,missense_variant,p.Ala121Thr,ENST00000539559,;TMEM260,5_prime_UTR_variant,,ENST00000556422,;TMEM260,non_coding_transcript_exon_variant,,ENST00000554981,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556079,;TMEM260,intron_variant,,ENST00000555497,;TMEM260,intron_variant,,ENST00000556929,;	483	209	159	SUCCESS
SYT16	83851	.	GRCh37	14	62550920	62550920	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	72	0	ENST00000430451.2:c.1441G>T	p.Gly481Trp	p.G481W	ENST00000430451	NM_031914.2	481	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS45121.1	1441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGGGTCT	NONE	.	.	hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024	.	.	ENSP00000394700	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.741)	.	deleterious(0)	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,missense_variant,p.Gly481Trp,ENST00000430451,;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	1638	72	63	SUCCESS
PPP2R5E	5529	.	GRCh37	14	63858560	63858560	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	108	0	ENST00000337537.3:c.929G>A	p.Trp310Ter	p.W310*	ENST00000337537	NM_006246.2	310	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS9758.1	929	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGGCCAAAAT	NONE	.	.	hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF5,Gene3D:1.25.10.10,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000337641	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000337537	Transcript	.	.	ENSG00000154001	9313	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	2A5E_HUMAN	PPP2R5E	HGNC	J3KQN6_HUMAN	.	UPI0000124E94	SNV	PPP2R5E,stop_gained,p.Trp310Ter,ENST00000337537,;PPP2R5E,stop_gained,p.Trp234Ter,ENST00000422769,;PPP2R5E,stop_gained,p.Trp310Ter,ENST00000555899,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000553266,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556484,;PPP2R5E,intron_variant,,ENST00000556150,;	1532	108	77	SUCCESS
FAM161B	145483	.	GRCh37	14	74409115	74409115	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	64	203	0	ENST00000286544.3:c.1418A>T	p.His473Leu	p.H473L	ENST00000286544	NM_152445.2	473	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS9822.2	1418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGTGGCGC	NONE	.	.	hmmpanther:PTHR21501:SF4,hmmpanther:PTHR21501,Pfam_domain:PF10595	.	.	ENSP00000286544	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000286544	Transcript	.	.	ENSG00000156050	19854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.23)	.	F161B_HUMAN	FAM161B	HGNC	.	.	UPI000206535E	SNV	FAM161B,missense_variant,p.His473Leu,ENST00000286544,;FAM161B,missense_variant,p.His410Leu,ENST00000534936,;FAM161B,upstream_gene_variant,,ENST00000556794,;RP5-1021I20.5,upstream_gene_variant,,ENST00000555916,;	1617	204	162	SUCCESS
STON2	85439	.	GRCh37	14	81737182	81737182	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	41	0	ENST00000267540.2:c.2445T>G	p.Leu815=	p.L815=	ENST00000267540	NM_033104.3	815	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS58332.1	2445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCAAGGTG	NONE	.	.	Superfamily_domains:0038852,PIRSF_domain:PIRSF037099,Pfam_domain:PF00928,Gene3D:2.60.40.1170,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19,PROSITE_profiles:PS51072	.	.	ENSP00000450857	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000555447	Transcript	.	.	ENSG00000140022	30652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STON2_HUMAN	STON2	HGNC	G3V322_HUMAN	.	UPI00001FD96B	SNV	STON2,synonymous_variant,p.%3D,ENST00000267540,;STON2,synonymous_variant,p.%3D,ENST00000553821,;STON2,synonymous_variant,p.%3D,ENST00000555447,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	2858	41	31	SUCCESS
RPS6KA5	9252	.	GRCh37	14	91338575	91338575	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	104	216	0	ENST00000261991.3:c.2252C>G	p.Thr751Ser	p.T751S	ENST00000261991	NM_004755.2	751	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS9893.1	2252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGTGCTA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10	.	.	ENSP00000261991	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000261991	Transcript	.	.	ENSG00000100784	10434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.67)	.	KS6A5_HUMAN	RPS6KA5	HGNC	Q9UG98_HUMAN,B7Z2Y5_HUMAN	.	UPI0000031C30	SNV	RPS6KA5,missense_variant,p.Thr751Ser,ENST00000261991,;RPS6KA5,missense_variant,p.Thr672Ser,ENST00000536315,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;	2426	216	217	SUCCESS
DUOXA2	405753	.	GRCh37	15	45408389	45408389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	37	0	ENST00000323030.5:c.273C>A	p.Ser91Arg	p.S91R	ENST00000323030	NM_207581.3	91	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS10118.2	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCGCAGC	NONE	.	.	Pfam_domain:PF10204,hmmpanther:PTHR31158:SF2,hmmpanther:PTHR31158	.	.	ENSP00000319705	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000323030	Transcript	1	.	ENSG00000140274	32698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DOXA2_HUMAN	DUOXA2	HGNC	.	.	UPI000049DDDD	SNV	DUOXA2,missense_variant,p.Ser91Arg,ENST00000323030,;DUOXA1,downstream_gene_variant,,ENST00000267803,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000560572,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOXA1,downstream_gene_variant,,ENST00000558422,;DUOXA1,downstream_gene_variant,,ENST00000559014,;DUOX2,upstream_gene_variant,,ENST00000603300,;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA1,downstream_gene_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558996,;DUOXA2,3_prime_UTR_variant,,ENST00000491993,;DUOXA2,non_coding_transcript_exon_variant,,ENST00000350243,;DUOX2,upstream_gene_variant,,ENST00000558383,;DUOXA1,downstream_gene_variant,,ENST00000559013,;	558	37	36	SUCCESS
IGF1R	3480	.	GRCh37	15	99491869	99491869	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs45598038	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	24	0	ENST00000268035.6:c.3654C>G	p.Asn1218Lys	p.N1218K	ENST00000268035	NM_000875.3	1218	aaC/aaG	0	.	T:0	.	T:0	.	G	N/K	protein_coding	YES	CCDS10378.1	3654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAACGAGCA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,PIRSF_domain:PIRSF000620,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	T:0.001	.	ENSP00000268035	T:0	20/21	.	.	.	.	.	.	.	.	rs45598038	20/21	PASS	ENST00000268035	Transcript	1	T:0.0002	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	20625407	probably_damaging(0.99)	T:0	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Asn1217Lys,ENST00000558762,;IGF1R,missense_variant,p.Asn1218Lys,ENST00000268035,;IGF1R,upstream_gene_variant,,ENST00000558751,;	4265	24	27	SUCCESS
EIF3C	8663	.	GRCh37	16	28734840	28734840	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	46	222	0	ENST00000331666.6:c.1009del	p.Leu337TyrfsTer57	p.L337Yfs*57	ENST00000331666		336	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS10638.1	1008	INDELOCATOR|VARSCANI	.	TGAGATCCTACA	NONE	.	.	HAMAP:MF_03002,hmmpanther:PTHR13937,Pfam_domain:PF05470	.	.	ENSP00000332604	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000331666	Transcript	.	.	ENSG00000184110	3279	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3C_HUMAN	EIF3C	HGNC	H3BTY8_HUMAN,H3BPE4_HUMAN,H3BPE3_HUMAN,B4DVQ5_HUMAN,B3KNZ4_HUMAN	.	UPI000012D309	deletion	EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000566501,;EIF3C,frameshift_variant,p.Leu327TyrfsTer57,ENST00000564243,;EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000395587,;EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000331666,;EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000566866,;EIF3C,downstream_gene_variant,,ENST00000565099,;EIF3C,non_coding_transcript_exon_variant,,ENST00000565932,;EIF3C,upstream_gene_variant,,ENST00000564839,;EIF3C,upstream_gene_variant,,ENST00000566519,;RP11-57A19.4,intron_variant,,ENST00000562217,;	1194	222	236	SUCCESS
SETD1A	9739	.	GRCh37	16	30977205	30977205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	109	0	ENST00000262519.8:c.2003G>T	p.Arg668Leu	p.R668L	ENST00000262519	NM_014712.1	668	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS32435.1	2003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGACTTG	NONE	.	.	hmmpanther:PTHR22884:SF295,hmmpanther:PTHR22884	.	.	ENSP00000262519	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000262519	Transcript	.	.	ENSG00000099381	29010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	.	.	SET1A_HUMAN	SETD1A	HGNC	C9J2Z9_HUMAN	.	UPI00001C1FA9	SNV	SETD1A,missense_variant,p.Arg668Leu,ENST00000262519,;SETD1A,downstream_gene_variant,,ENST00000452917,;	2689	109	100	SUCCESS
MT1G	4495	.	GRCh37	16	56701957	56701957	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	15	0	ENST00000379811.3:c.-52C>T		p.*18*	ENST00000379811				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10766.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGGTGCA	NONE	.	.	.	.	.	ENSP00000391397	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000444837	Transcript	.	.	ENSG00000125144	7399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT1G_HUMAN	MT1G	HGNC	.	.	UPI000012F6DA	SNV	MT1G,5_prime_UTR_variant,,ENST00000379811,;MT1G,5_prime_UTR_variant,,ENST00000444837,;MT1H,upstream_gene_variant,,ENST00000332374,;MT1H,upstream_gene_variant,,ENST00000569155,;MT1G,upstream_gene_variant,,ENST00000568675,;MT1G,upstream_gene_variant,,ENST00000569500,;	21	15	20	SUCCESS
NFE2L1	4779	.	GRCh37	17	46135846	46135846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	39	0	ENST00000362042.3:c.1162G>T	p.Ala388Ser	p.A388S	ENST00000362042	NM_003204.2	388	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11524.1	1162	RADIA|VARSCANS	.	CTGTGGCCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411	.	.	ENSP00000354855	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000362042	Transcript	.	.	ENSG00000082641	7781	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.69)	.	NF2L1_HUMAN	NFE2L1	HGNC	Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN	.	UPI000012FFCF	SNV	NFE2L1,missense_variant,p.Ala232Ser,ENST00000536222,;NFE2L1,missense_variant,p.Ala388Ser,ENST00000362042,;NFE2L1,missense_variant,p.Ala358Ser,ENST00000357480,;NFE2L1,missense_variant,p.Ala358Ser,ENST00000585291,;NFE2L1,missense_variant,p.Ala200Ser,ENST00000582155,;NFE2L1,missense_variant,p.Ala189Ser,ENST00000583378,;NFE2L1,missense_variant,p.Ala377Ser,ENST00000361665,;NFE2L1,downstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000584634,;NFE2L1,downstream_gene_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000580037,;NFE2L1,downstream_gene_variant,,ENST00000577431,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;	1778	39	39	SUCCESS
DLX4	1748	.	GRCh37	17	48046980	48046980	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	27	0	ENST00000240306.3:c.148C>T	p.Pro50Ser	p.P50S	ENST00000240306	NM_138281.2	50	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11555.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCCGTAT	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF30	.	.	ENSP00000240306	.	1/3	.	.	.	.	.	.	.	.	COSM1384130	1/3	PASS	ENST00000240306	Transcript	.	.	ENSG00000108813	2917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.444)	.	tolerated(0.38)	1	DLX4_HUMAN	DLX4	HGNC	.	.	UPI0000070F94	SNV	DLX4,missense_variant,p.Pro50Ser,ENST00000240306,;DLX4,missense_variant,p.Pro50Ser,ENST00000505318,;DLX4,upstream_gene_variant,,ENST00000411890,;RNU6-1313P,upstream_gene_variant,,ENST00000362622,;DLX4,splice_region_variant,,ENST00000503410,;DLX4,upstream_gene_variant,,ENST00000503276,;	443	27	23	SUCCESS
CD300LF	146722	.	GRCh37	17	72700898	72700898	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs146550147	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	83	0	ENST00000326165.6:c.101G>T	p.Gly34Val	p.G34V	ENST00000326165	NM_139018.3	34	gGc/gTc	0	A:0.0002	.	.	.	.	A	G/V	protein_coding	YES	CCDS11704.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCCCCGC	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF43,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	A:0	ENSP00000327075	.	2/7	.	.	.	.	.	.	.	.	rs146550147	2/7	PASS	ENST00000326165	Transcript	.	.	ENSG00000186074	29883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CLM1_HUMAN	CD300LF	HGNC	.	.	UPI000013E729	SNV	CD300LF,missense_variant,p.Gly37Val,ENST00000343125,;CD300LF,missense_variant,p.Gly37Val,ENST00000581500,;CD300LF,missense_variant,p.Gly34Val,ENST00000301573,;CD300LF,missense_variant,p.Gly34Val,ENST00000326165,;CD300LF,missense_variant,p.Gly34Val,ENST00000583937,;CD300LF,missense_variant,p.Gly37Val,ENST00000361254,;CD300LF,missense_variant,p.Gly37Val,ENST00000469092,;CD300LF,missense_variant,p.Gly37Val,ENST00000464910,;RAB37,intron_variant,,ENST00000340415,;RAB37,intron_variant,,ENST00000402449,;CD300LF,missense_variant,p.Gly37Val,ENST00000462044,;CD300LF,non_coding_transcript_exon_variant,,ENST00000583544,;RAB37,intron_variant,,ENST00000392617,;	213	83	68	SUCCESS
DNAH2	146754	.	GRCh37	17	7734001	7734001	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	89	0	ENST00000389173.2:c.12071A>G	p.Tyr4024Cys	p.Y4024C	ENST00000389173	NM_020877.2	4024	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32551.1	12071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATCTCG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF03028	.	.	ENSP00000458355	.	79/86	.	.	.	.	.	.	.	.	.	79/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Tyr4024Cys,ENST00000389173,;DNAH2,missense_variant,p.Tyr4024Cys,ENST00000572933,;DNAH2,missense_variant,p.Tyr973Cys,ENST00000575105,;	13531	89	56	SUCCESS
CEP192	55125	.	GRCh37	18	13103583	13103583	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	47	0	ENST00000506447.1:c.6947T>C	p.Val2316Ala	p.V2316A	ENST00000506447	NM_032142.3	2316	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32792.2	6947	RADIA|MUTECT|VARSCANS	.	TTATGTCAAGG	NONE	.	.	hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029	.	.	ENSP00000427550	.	39/45	.	.	.	.	.	.	.	.	.	39/45	PASS	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,missense_variant,p.Val1720Ala,ENST00000325971,;CEP192,missense_variant,p.Val2316Ala,ENST00000506447,;CEP192,missense_variant,p.Val1841Ala,ENST00000430049,;CEP192,missense_variant,p.Val1855Ala,ENST00000511820,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,non_coding_transcript_exon_variant,,ENST00000508539,;CEP192,missense_variant,p.Val1916Ala,ENST00000510237,;CEP192,missense_variant,p.Val864Ala,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;	7027	47	35	SUCCESS
SLC25A52	147407	.	GRCh37	18	29339767	29339767	+	synonymous_variant	Silent	SNP	G	G	A	rs768083688	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	111	0	ENST00000579441.2:c.858C>T	p.Ile286=	p.I286=	ENST00000579441		286	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS32812.2	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTGATTAT	NONE	byFrequency	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF253,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000372612	.	1/1	.	.	.	.	.	.	.	.	rs768083688	1/1	PASS	ENST00000269205	Transcript	.	.	ENSG00000141437	23324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC25A52	HGNC	I3L0B8_HUMAN	.	UPI000016058E	SNV	SLC25A52,synonymous_variant,p.%3D,ENST00000579441,;SLC25A52,synonymous_variant,p.%3D,ENST00000269205,;	1077	111	109	SUCCESS
SERPINB13	5275	.	GRCh37	18	61255920	61255920	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139825462	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	60	147	0	ENST00000344731.5:c.19G>A	p.Val7Ile	p.V7I	ENST00000344731	NM_012397.3	7	Gtc/Atc	0	A:0.0007	.	.	.	.	A	V/I	protein_coding	YES	CCDS11985.1	19	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGTCAGC	SITE|p.V7I|c.19G>A|5	byCluster	.	hmmpanther:PTHR11461:SF152,hmmpanther:PTHR11461,Superfamily_domains:SSF56574	.	A:0	ENSP00000341584	.	2/8	.	.	.	.	.	.	.	.	rs139825462,COSM247259	2/8	PASS	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	deleterious(0)	0,1	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,missense_variant,p.Val37Ile,ENST00000431153,;SERPINB13,missense_variant,p.Val7Ile,ENST00000344731,;SERPINB13,missense_variant,p.Val7Ile,ENST00000269489,;SERPINB13,upstream_gene_variant,,ENST00000415733,;SERPINB13,missense_variant,p.Val7Ile,ENST00000438844,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;	121	147	114	SUCCESS
NETO1	81832	.	GRCh37	18	70534616	70534616	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	31	0	ENST00000327305.6:c.-90T>C		p.*30*	ENST00000327305	NM_138966.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12000.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCGAGAGGTGT	NONE	.	.	.	.	.	ENSP00000313088	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,5_prime_UTR_variant,,ENST00000327305,;NETO1,5_prime_UTR_variant,,ENST00000583169,;NETO1,upstream_gene_variant,,ENST00000397929,;NETO1,upstream_gene_variant,,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000579169,;RP11-676J15.1,upstream_gene_variant,,ENST00000580564,;RP11-676J15.1,upstream_gene_variant,,ENST00000578967,;NETO1,upstream_gene_variant,,ENST00000580049,;NETO1,upstream_gene_variant,,ENST00000579730,;NETO1,downstream_gene_variant,,ENST00000577184,;	569	31	34	SUCCESS
SALL3	27164	.	GRCh37	18	76754127	76754127	+	synonymous_variant	Silent	SNP	C	C	T	rs1233975579	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	30	0	ENST00000537592.2:c.2136C>T	p.Cys712=	p.C712=	ENST00000537592	NM_171999.3	712	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS12013.1	2136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGCGGCCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,synonymous_variant,p.%3D,ENST00000536229,;SALL3,synonymous_variant,p.%3D,ENST00000537592,;SALL3,synonymous_variant,p.%3D,ENST00000575389,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	2136	30	20	SUCCESS
ICAM5	7087	.	GRCh37	19	10402010	10402010	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	37	1	ENST00000221980.4:c.345C>A	p.Arg115=	p.R115=	ENST00000221980	NM_003259.3	115	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12233.1	345	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATTCGCACTTT	NONE	.	.	hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,Pfam_domain:PF03921,Superfamily_domains:SSF48726	.	.	ENSP00000221980	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000221980	Transcript	.	.	ENSG00000105376	5348	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,synonymous_variant,p.%3D,ENST00000221980,;ICAM5,5_prime_UTR_variant,,ENST00000587398,;ICAM4,downstream_gene_variant,,ENST00000393717,;ICAM4,downstream_gene_variant,,ENST00000380770,;ICAM1,downstream_gene_variant,,ENST00000264832,;ICAM4,downstream_gene_variant,,ENST00000340992,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,intron_variant,,ENST00000586004,;ICAM5,upstream_gene_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	408	38	30	SUCCESS
ILF3	3609	.	GRCh37	19	10794397	10794397	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	17	0	ENST00000590261.1:c.1937G>T	p.Gly646Val	p.G646V	ENST00000590261		646	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS45965.1	1949	RADIA|SOMATICSNIPER	.	AGGCGGGAGCA	NONE	.	.	hmmpanther:PTHR10910:SF34,hmmpanther:PTHR10910,Low_complexity_(Seg):seg	.	.	ENSP00000404121	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000449870	Transcript	.	.	ENSG00000129351	6038	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.09)	.	ILF3_HUMAN	ILF3	HGNC	K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN	.	UPI000059D66A	SNV	ILF3,missense_variant,p.Gly646Val,ENST00000590261,;ILF3,missense_variant,p.Gly646Val,ENST00000318511,;ILF3,missense_variant,p.Gly646Val,ENST00000589998,;ILF3,missense_variant,p.Gly38Val,ENST00000593061,;ILF3,missense_variant,p.Gly650Val,ENST00000407004,;ILF3,missense_variant,p.Gly650Val,ENST00000592763,;ILF3,missense_variant,p.Gly646Val,ENST00000250241,;ILF3,missense_variant,p.Gly650Val,ENST00000588657,;ILF3,missense_variant,p.Gly646Val,ENST00000420083,;ILF3,missense_variant,p.Gly650Val,ENST00000449870,;ILF3,upstream_gene_variant,,ENST00000590869,;ILF3,downstream_gene_variant,,ENST00000590009,;ILF3,upstream_gene_variant,,ENST00000586544,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,downstream_gene_variant,,ENST00000589173,;ILF3,upstream_gene_variant,,ENST00000591649,;ILF3,downstream_gene_variant,,ENST00000585835,;ILF3,downstream_gene_variant,,ENST00000589052,;ILF3,downstream_gene_variant,,ENST00000587840,;ILF3,downstream_gene_variant,,ENST00000589416,;ILF3,downstream_gene_variant,,ENST00000589485,;ILF3,downstream_gene_variant,,ENST00000587505,;	2266	17	14	SUCCESS
HOOK2	29911	.	GRCh37	19	12886293	12886293	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs754486695	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	28	0	ENST00000397668.3:c.-30C>T		p.*10*	ENST00000397668	NM_013312.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42508.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGGAGCC	NONE	.	.	.	.	.	ENSP00000380785	.	1/23	.	.	.	.	.	.	.	.	rs754486695	1/23	PASS	ENST00000397668	Transcript	.	.	ENSG00000095066	19885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HOOK2_HUMAN	HOOK2	HGNC	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN	.	UPI00003D0BC0	SNV	HOOK2,5_prime_UTR_variant,,ENST00000587178,;HOOK2,5_prime_UTR_variant,,ENST00000397668,;HOOK2,5_prime_UTR_variant,,ENST00000264827,;HOOK2,intron_variant,,ENST00000589400,;HOOK2,intron_variant,,ENST00000592079,;HOOK2,intron_variant,,ENST00000590839,;HOOK2,upstream_gene_variant,,ENST00000588052,;HOOK2,upstream_gene_variant,,ENST00000587964,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589965,;HOOK2,intron_variant,,ENST00000589765,;HOOK2,non_coding_transcript_exon_variant,,ENST00000586284,;HOOK2,non_coding_transcript_exon_variant,,ENST00000592808,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589134,;HOOK2,intron_variant,,ENST00000586719,;HOOK2,intron_variant,,ENST00000592512,;HOOK2,intron_variant,,ENST00000591251,;HOOK2,intron_variant,,ENST00000591641,;HOOK2,intron_variant,,ENST00000593143,;HOOK2,upstream_gene_variant,,ENST00000586188,;	45	28	21	SUCCESS
CLEC17A	388512	.	GRCh37	19	14705334	14705334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	51	0	ENST00000417570.1:c.283A>T	p.Ser95Cys	p.S95C	ENST00000417570	NM_001204118.1	95	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS56087.1	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAAGTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22802:SF214,hmmpanther:PTHR22802	.	.	ENSP00000393719	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000417570	Transcript	.	.	ENSG00000187912	34520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated_low_confidence(0.18)	.	CL17A_HUMAN	CLEC17A	HGNC	.	.	UPI0001747A7C	SNV	CLEC17A,missense_variant,p.Ser78Cys,ENST00000397439,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000417570,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000547437,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000339847,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000551730,;	321	51	63	SUCCESS
LINC00661	126536	.	GRCh37	19	16131404	16131404	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	54	0	ENST00000549354.2:n.235G>A		p.*79*	ENST00000549354				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGTAGCT	NONE	.	.	.	.	.	.	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000549354	Transcript	.	.	ENSG00000205396	27002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00661	HGNC	.	.	.	SNV	LINC00661,non_coding_transcript_exon_variant,,ENST00000549354,;LINC00661,non_coding_transcript_exon_variant,,ENST00000549718,;LINC00661,upstream_gene_variant,,ENST00000547102,;LINC00661,upstream_gene_variant,,ENST00000552685,;LINC00661,downstream_gene_variant,,ENST00000546512,;LINC00661,upstream_gene_variant,,ENST00000552608,;LINC00661,downstream_gene_variant,,ENST00000549131,;	235	54	24	SUCCESS
JAK3	3718	.	GRCh37	19	17950393	17950393	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777849274	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	16	0	ENST00000458235.1:c.1334G>A	p.Arg445Gln	p.R445Q	ENST00000458235	NM_000215.3	445	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12366.1	1334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCGGCTG	NONE	byFrequency	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Gene3D:3.30.505.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000391676	.	10/24	.	.	.	.	.	.	.	.	rs777849274,COSM3822312,COSM3822311	10/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.007)	.	tolerated(0.22)	0,1,1	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Arg445Gln,ENST00000458235,;JAK3,missense_variant,p.Arg445Gln,ENST00000534444,;JAK3,missense_variant,p.Arg445Gln,ENST00000527670,;JAK3,non_coding_transcript_exon_variant,,ENST00000526008,;JAK3,non_coding_transcript_exon_variant,,ENST00000528705,;JAK3,non_coding_transcript_exon_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528293,;	1434	16	17	SUCCESS
BTBD2	55643	.	GRCh37	19	1997425	1997425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	32	0	ENST00000255608.4:c.445A>G	p.Met149Val	p.M149V	ENST00000255608	NM_017797.3	149	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS12078.1	445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATGGCAT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF16,PROSITE_profiles:PS50097	.	.	ENSP00000255608	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000255608	Transcript	.	.	ENSG00000133243	15504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.747)	.	deleterious(0)	.	BTBD2_HUMAN	BTBD2	HGNC	Q6NT96_HUMAN	.	UPI0000126B02	SNV	BTBD2,missense_variant,p.Met149Val,ENST00000255608,;BTBD2,upstream_gene_variant,,ENST00000587825,;BTBD2,non_coding_transcript_exon_variant,,ENST00000590646,;BTBD2,non_coding_transcript_exon_variant,,ENST00000588395,;BTBD2,non_coding_transcript_exon_variant,,ENST00000587742,;BTBD2,3_prime_UTR_variant,,ENST00000589200,;	462	32	23	SUCCESS
ZNF43	7594	.	GRCh37	19	21990784	21990784	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	17	0	ENST00000354959.4:c.2055A>G	p.Lys685=	p.K685=	ENST00000354959	NM_003423.3	685	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS12413.2	2055	RADIA|MUTECT|MUSE	.	AAAGCTTTGCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347045	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,synonymous_variant,p.%3D,ENST00000595461,;ZNF43,synonymous_variant,p.%3D,ENST00000354959,;ZNF43,synonymous_variant,p.%3D,ENST00000594012,;ZNF43,synonymous_variant,p.%3D,ENST00000598381,;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;	2225	17	12	SUCCESS
ZNF676	163223	.	GRCh37	19	22363944	22363944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	39	0	ENST00000397121.2:c.575C>A	p.Thr192Asn	p.T192N	ENST00000397121	NM_001001411.2	192	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS42539.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGTATGA	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,PROSITE_profiles:PS50157	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0.03)	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,missense_variant,p.Thr192Asn,ENST00000397121,;	893	39	50	SUCCESS
HIPK4	147746	.	GRCh37	19	40895613	40895613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	115	0	ENST00000291823.2:c.197A>G	p.Asp66Gly	p.D66G	ENST00000291823	NM_144685.3	66	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12555.1	197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTCTAGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF46,PROSITE_profiles:PS50011	.	.	ENSP00000291823	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000291823	Transcript	.	.	ENSG00000160396	19007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	HIPK4_HUMAN	HIPK4	HGNC	B4DWX2_HUMAN	.	UPI000006DCD3	SNV	HIPK4,missense_variant,p.Asp66Gly,ENST00000291823,;PRX,downstream_gene_variant,,ENST00000324001,;PRX,downstream_gene_variant,,ENST00000291825,;	482	115	62	SUCCESS
CGB7	94027	.	GRCh37	19	49558233	49558233	+	synonymous_variant	Silent	SNP	G	G	A	rs370423985	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	18	0	ENST00000597853.1:c.48C>T	p.Gly16=	p.G16=	ENST00000597853		16	ggC/ggT	0	A:0.0003	A:0.0045	.	A:0	.	A	G	protein_coding	YES	CCDS33071.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCCCAT	BUFFER|p.T18A|c.52A>G|5	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12	A:0	A:0	ENSP00000470813	A:0	4/5	.	.	.	.	.	.	.	.	rs370423985,COSM418126	4/5	PASS	ENST00000597853	Transcript	.	A:0.0012	ENSG00000196337	16451	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	CGHB_HUMAN	CGB7	HGNC	J3KP00_HUMAN	.	UPI00001619C1	SNV	CGB7,synonymous_variant,p.%3D,ENST00000377280,;CGB7,synonymous_variant,p.%3D,ENST00000597853,;CGB7,synonymous_variant,p.%3D,ENST00000596965,;CGB7,synonymous_variant,p.%3D,ENST00000356213,;NTF4,downstream_gene_variant,,ENST00000451356,;CGB7,downstream_gene_variant,,ENST00000598442,;CGB7,downstream_gene_variant,,ENST00000593309,;NTF4,downstream_gene_variant,,ENST00000599795,;CTB-60B18.15,upstream_gene_variant,,ENST00000596318,;	2920	18	18	SUCCESS
KCNA7	3743	.	GRCh37	19	49573841	49573841	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs546430763	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	32	0	ENST00000221444.1:c.850C>T	p.Arg284Cys	p.R284C	ENST00000221444	NM_031886.2	284	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12755.1	850	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGCACCA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000221444	.	2/2	.	.	.	.	.	.	.	.	rs546430763	2/2	PASS	ENST00000221444	Transcript	.	.	ENSG00000104848	6226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNA7_HUMAN	KCNA7	HGNC	.	.	UPI000004F638	SNV	KCNA7,missense_variant,p.Arg284Cys,ENST00000221444,;	1206	32	27	SUCCESS
TBC1D17	79735	.	GRCh37	19	50387721	50387721	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758641196	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	81	0	ENST00000221543.5:c.1249G>A	p.Val417Ile	p.V417I	ENST00000221543	NM_024682.2	417	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS12785.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTACGTCCAG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF228,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000221543	.	12/17	.	.	.	.	.	.	.	.	rs758641196,COSM999493	12/17	PASS	ENST00000221543	Transcript	.	.	ENSG00000104946	25699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	0,1	TBC17_HUMAN	TBC1D17	HGNC	Q96RQ7_HUMAN	.	UPI000013C7D2	SNV	TBC1D17,missense_variant,p.Val396Ile,ENST00000599049,;TBC1D17,missense_variant,p.Val384Ile,ENST00000535102,;TBC1D17,missense_variant,p.Val417Ile,ENST00000221543,;MIR4750,upstream_gene_variant,,ENST00000584564,;TBC1D17,downstream_gene_variant,,ENST00000598789,;TBC1D17,missense_variant,p.Val196Ile,ENST00000594984,;TBC1D17,non_coding_transcript_exon_variant,,ENST00000596243,;TBC1D17,upstream_gene_variant,,ENST00000600354,;TBC1D17,downstream_gene_variant,,ENST00000594996,;	1548	81	78	SUCCESS
ZSCAN5A	79149	.	GRCh37	19	56735066	56735066	+	synonymous_variant	Silent	SNP	T	T	C	rs199886337	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	40	0	ENST00000391713.1:c.522A>G	p.Pro174=	p.P174=	ENST00000391713	NM_024303.1	174	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS12941.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCTGGACG	NONE	.	.	hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032	.	.	ENSP00000467631	.	5/7	.	.	.	.	.	.	.	.	rs199886337	5/7	PASS	ENST00000587340	Transcript	.	.	ENSG00000131848	23710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSA5A_HUMAN	ZSCAN5A	HGNC	K7ESN6_HUMAN,K7ESE4_HUMAN,K7EQW6_HUMAN,K7EN85_HUMAN,K7EMC4_HUMAN,K7EIX9_HUMAN	.	UPI0000072024	SNV	ZSCAN5A,synonymous_variant,p.%3D,ENST00000587492,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000593106,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000592355,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000587340,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000391713,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000254165,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;	1218	40	28	SUCCESS
ZNF71	58491	.	GRCh37	19	57133787	57133787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	119	0	ENST00000328070.6:c.1132G>T	p.Gly378Cys	p.G378C	ENST00000328070	NM_021216.4	378	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS12947.1	1132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGGCGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,missense_variant,p.Gly378Cys,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	1366	119	71	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576688	158576688	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	41	139	0	ENST00000361284.1:c.460C>T	p.Leu154Phe	p.L154F	ENST00000361284	NM_001004478.1	154	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS30901.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACCTCTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.1)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Leu154Phe,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	460	139	159	SUCCESS
SPTA1	6708	.	GRCh37	1	158605719	158605719	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	49	46	0	ENST00000368147.4:c.5416G>C	p.Glu1806Gln	p.E1806Q	ENST00000368147	NM_003126.2	1806	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS41423.1	5416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTCTTTGA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	38/52	.	.	.	.	.	.	.	.	.	38/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	tolerated(0.64)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu1806Gln,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	5597	46	61	SUCCESS
OR6K2	81448	.	GRCh37	1	158670099	158670099	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752182709	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	52	87	0	ENST00000359610.2:c.344C>G	p.Thr115Arg	p.T115R	ENST00000359610	NM_001005279.1	115	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS30902.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACTGTCAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	rs752182709	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,missense_variant,p.Thr115Arg,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	388	87	94	SUCCESS
CASQ1	844	.	GRCh37	1	160165795	160165795	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	50	0	ENST00000368078.3:c.760A>G	p.Asn254Asp	p.N254D	ENST00000368078		254	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1198.2	760	RADIA|VARSCANS	.	TTGTCAACTTC	NONE	.	.	hmmpanther:PTHR10033:SF9,hmmpanther:PTHR10033,Pfam_domain:PF01216,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00312	.	.	ENSP00000357057	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000368078	Transcript	.	.	ENSG00000143318	1512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.5)	.	CASQ1_HUMAN	CASQ1	HGNC	C9JAC8_HUMAN	.	UPI0000204B81	SNV	CASQ1,missense_variant,p.Asn248Asp,ENST00000368079,;CASQ1,missense_variant,p.Asn254Asp,ENST00000368078,;CASQ1,upstream_gene_variant,,ENST00000467691,;CASQ1,non_coding_transcript_exon_variant,,ENST00000481081,;	956	50	41	SUCCESS
DCAF6	55827	.	GRCh37	1	167971772	167971772	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	62	209	0	ENST00000312263.6:c.956C>T	p.Thr319Ile	p.T319I	ENST00000312263	NM_001017977.2	319	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS55657.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATACTGGAC	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11	.	.	ENSP00000356814	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,missense_variant,p.Thr288Ile,ENST00000432587,;DCAF6,missense_variant,p.Thr319Ile,ENST00000367840,;DCAF6,missense_variant,p.Thr319Ile,ENST00000312263,;DCAF6,missense_variant,p.Thr319Ile,ENST00000367843,;MIR1255B2,downstream_gene_variant,,ENST00000408618,;DCAF6,missense_variant,p.Thr319Ile,ENST00000470721,;	1050	209	211	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182873386	182873386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	71	0	ENST00000367547.3:c.1516G>A	p.Glu506Lys	p.E506K	ENST00000367547	NM_030933.2	506	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS30955.1	1516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCACATT	NONE	.	.	hmmpanther:PTHR14695:SF7,hmmpanther:PTHR14695,Pfam_domain:PF13229,Gene3D:2.160.20.10,SMART_domains:SM00722,SMART_domains:SM00710,Superfamily_domains:SSF51126	.	.	ENSP00000356518	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000367547	Transcript	.	.	ENSG00000157060	16788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	deleterious(0.01)	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	SNV	SHCBP1L,missense_variant,p.Glu387Lys,ENST00000423786,;SHCBP1L,missense_variant,p.Glu506Lys,ENST00000367547,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;	1753	71	97	SUCCESS
HMCN1	83872	.	GRCh37	1	186097385	186097385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	35	0	ENST00000271588.4:c.12866C>T	p.Pro4289Leu	p.P4289L	ENST00000271588	NM_031935.2	4289	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS30956.1	12866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCCAAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	83/107	.	.	.	.	.	.	.	.	.	83/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Pro4289Leu,ENST00000367492,;HMCN1,missense_variant,p.Pro4289Leu,ENST00000271588,;	13095	35	52	SUCCESS
MAPKAPK2	9261	.	GRCh37	1	206902164	206902166	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	GGA	GGA	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	49	0	ENST00000367103.3:c.392_394del	p.Arg131del	p.R131del	ENST00000367103	NM_004759.4	130	gGGAgg/ggg	0	.	.	.	.	.	-	GR/G	protein_coding	YES	CCDS31001.1	389-391	VARSCANI*|PINDEL	.	ACGCAGGGAGGAAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF63,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356070	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000367103	Transcript	.	.	ENSG00000162889	6887	3	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAPK2_HUMAN	MAPKAPK2	HGNC	.	.	UPI0000112289	deletion	MAPKAPK2,inframe_deletion,p.Arg131del,ENST00000294981,;MAPKAPK2,inframe_deletion,p.Arg131del,ENST00000367103,;MAPKAPK2,upstream_gene_variant,,ENST00000479009,;MAPKAPK2,upstream_gene_variant,,ENST00000493447,;	582-584	49	43	SUCCESS
OR2T27	403239	.	GRCh37	1	248814007	248814007	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	19	144	0	ENST00000344889.3:c.179A>T	p.Tyr60Phe	p.Y60F	ENST00000344889	NM_001001824.1	60	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS31124.1	179	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTACATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344889	Transcript	.	.	ENSG00000187701	31252	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	.	O2T27_HUMAN	OR2T27	HGNC	.	.	UPI000004F239	SNV	OR2T27,missense_variant,p.Tyr60Phe,ENST00000344889,;	179	144	152	SUCCESS
EEF1A2	1917	.	GRCh37	20	62122018	62122018	+	synonymous_variant	Silent	SNP	C	C	A	rs139282309	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	13	0	ENST00000217182.3:c.843G>T	p.Ala281=	p.A281=	ENST00000217182	NM_001958.3	281	gcG/gcT	0	T:0.0002	T:0.0008	.	T:0	.	A	A	protein_coding	YES	CCDS13522.1	843	RADIA|SOMATICSNIPER|MUSE	.	ACTGGCGCAAA	NONE	byCluster|by1000G	.	HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03144,Superfamily_domains:SSF50447	T:0	T:0	ENSP00000217182	T:0	6/8	.	.	.	.	.	.	.	.	rs139282309	6/8	PASS	ENST00000217182	Transcript	1	T:0.0002	ENSG00000101210	3192	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	EF1A2_HUMAN	EEF1A2	HGNC	.	.	UPI0000000136	SNV	EEF1A2,synonymous_variant,p.%3D,ENST00000298049,;EEF1A2,synonymous_variant,p.%3D,ENST00000217182,;	1009	13	16	SUCCESS
BAGE2	85319	.	GRCh37	21	11039320	11039320	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	18	211	0	ENST00000470054.1:n.884G>A		p.*295*	ENST00000470054				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	ACTTCCATTTT	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	884	212	217	SUCCESS
PRDM15	63977	.	GRCh37	21	43291640	43291640	+	synonymous_variant	Silent	SNP	C	C	T	rs376979380	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	26	0	ENST00000269844.3:c.504G>A	p.Ala168=	p.A168=	ENST00000269844	NM_022115.3	168	gcG/gcA	0	T:0.0002	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS13676.1	504	RADIA|VARSCANS	.	GCACTCGCAGG	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000269844	T:0	4/31	.	.	.	.	.	.	.	.	rs376979380	4/31	PASS	ENST00000269844	Transcript	.	T:0.0002	ENSG00000141956	13999	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,synonymous_variant,p.%3D,ENST00000269844,;PRDM15,intron_variant,,ENST00000422911,;PRDM15,intron_variant,,ENST00000398548,;PRDM15,intron_variant,,ENST00000538201,;AP001619.3,intron_variant,,ENST00000458654,;AP001619.2,downstream_gene_variant,,ENST00000432411,;PRDM15,synonymous_variant,p.%3D,ENST00000433067,;PRDM15,intron_variant,,ENST00000449395,;PRDM15,intron_variant,,ENST00000441787,;	615	26	37	SUCCESS
SCARF2	91179	.	GRCh37	22	20784723	20784723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1171784827	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	20	0	ENST00000266214.5:c.1195G>A	p.Gly399Arg	p.G399R	ENST00000266214	NM_153334.4	399	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13779.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGTGGA	NONE	.	.	hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,PROSITE_patterns:PS00022,SMART_domains:SM00180,SMART_domains:SM00181,Prints_domain:PR00011	.	.	ENSP00000266214	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000266214	Transcript	.	.	ENSG00000244486	19869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SREC2_HUMAN	SCARF2	HGNC	.	.	UPI0000135F1C	SNV	SCARF2,missense_variant,p.Gly399Arg,ENST00000405555,;SCARF2,missense_variant,p.Gly399Arg,ENST00000266214,;KLHL22,3_prime_UTR_variant,,ENST00000429594,;SCARF2,upstream_gene_variant,,ENST00000494535,;	1300	20	19	SUCCESS
GAS2L1	10634	.	GRCh37	22	29704470	29704470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	25	0	ENST00000341313.6:c.375G>T	p.Glu125Asp	p.E125D	ENST00000341313		125	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	.	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAGGACCT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR25069:SF123,hmmpanther:PTHR25069,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000344012	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.45)	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,missense_variant,p.Glu125Asp,ENST00000341313,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000416823,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000403764,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000407854,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000471961,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000360113,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000428622,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000407647,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000406549,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,;GAS2L1,downstream_gene_variant,,ENST00000487341,;GAS2L1,upstream_gene_variant,,ENST00000491016,;	507	25	16	SUCCESS
TRIOBP	11078	.	GRCh37	22	38120914	38120914	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768806208	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	63	139	0	ENST00000406386.3:c.2351A>G	p.Asn784Ser	p.N784S	ENST00000406386	NM_001039141.2	784	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43015.1	2351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAATAGAG	NONE	byFrequency	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs768806208	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.12)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Asn784Ser,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	2606	139	122	SUCCESS
EP300	2033	.	GRCh37	22	41560092	41560092	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	94	214	0	ENST00000263253.7:c.3764A>T	p.His1255Leu	p.H1255L	ENST00000263253	NM_001429.3	1255	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS14010.1	3764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCATCAGA	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	22/31	.	.	.	.	.	.	.	.	.	22/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.His1255Leu,ENST00000263253,;RNU6-375P,upstream_gene_variant,,ENST00000517050,;	4983	214	203	SUCCESS
CPT1B	1375	.	GRCh37	22	51010728	51010728	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	49	0	ENST00000312108.7:c.1362C>G	p.Asp454Glu	p.D454E	ENST00000312108	NM_152246.2	454	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS14098.1	1362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTGTCAAA	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF58,PROSITE_patterns:PS00440,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000353945	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000360719	Transcript	.	.	ENSG00000205560	2329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CPT1B_HUMAN	CPT1B	HGNC	C9J7C3_HUMAN	.	UPI0000128314	SNV	CPT1B,missense_variant,p.Asp454Glu,ENST00000312108,;CPT1B,missense_variant,p.Asp454Glu,ENST00000360719,;CPT1B,missense_variant,p.Asp454Glu,ENST00000395650,;CPT1B,missense_variant,p.Asp251Glu,ENST00000434492,;CPT1B,missense_variant,p.Asp420Glu,ENST00000457250,;CPT1B,missense_variant,p.Asp454Glu,ENST00000405237,;CPT1B,missense_variant,p.Asp373Glu,ENST00000440709,;CPT1B,downstream_gene_variant,,ENST00000417176,;CHKB-CPT1B,3_prime_UTR_variant,,ENST00000453634,;CHKB-CPT1B,non_coding_transcript_exon_variant,,ENST00000492556,;CPT1B,non_coding_transcript_exon_variant,,ENST00000475238,;CPT1B,downstream_gene_variant,,ENST00000476790,;CPT1B,downstream_gene_variant,,ENST00000479886,;CPT1B,downstream_gene_variant,,ENST00000460853,;CPT1B,upstream_gene_variant,,ENST00000497224,;CPT1B,downstream_gene_variant,,ENST00000461117,;CPT1B,downstream_gene_variant,,ENST00000423069,;	1500	49	33	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105889372	105889372	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	50	0	ENST00000258449.1:c.1912C>A	p.Gln638Lys	p.Q638K	ENST00000258449	NM_001142621.1	638	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS2067.1	1912	RADIA|VARSCANS	.	GGCCTGCGTCT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00637	.	.	ENSP00000377027	.	10/12	.	.	.	.	.	.	.	.	.	10/12	oxog	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.05)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.Gln638Lys,ENST00000393359,;TGFBRAP1,missense_variant,p.Gln638Lys,ENST00000258449,;	2339	50	37	SUCCESS
XIRP2	129446	.	GRCh37	2	168100450	168100450	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	164	0	ENST00000409195.1:c.2548T>C	p.Leu850=	p.L850=	ENST00000409195	NM_152381.5	850	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42769.1	2548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATTAGAC	NONE	.	.	Pfam_domain:PF08043,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,PROSITE_profiles:PS51389	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2637	164	126	SUCCESS
XIRP2	129446	.	GRCh37	2	168104420	168104420	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375925351	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	49	115	0	ENST00000409195.1:c.6518G>T	p.Gly2173Val	p.G2173V	ENST00000409195	NM_152381.5	2173	gGa/gTa	0	C:0	.	.	.	.	T	G/V	protein_coding	YES	CCDS42769.1	6518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGAGGAA	NONE	byCluster	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	C:0.0001	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs375925351	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Gly1951Val,ENST00000409273,;XIRP2,missense_variant,p.Gly2173Val,ENST00000409195,;XIRP2,missense_variant,p.Gly2173Val,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	6607	116	102	SUCCESS
TTN	7273	.	GRCh37	2	179560596	179560596	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	75	223	0	ENST00000591111.1:c.30252T>C	p.Tyr10084=	p.Y10084=	ENST00000591111		10084	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS59435.1	31203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCATAGAC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	114/363	.	.	.	.	.	.	.	.	.	114/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000414766,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31428	223	171	SUCCESS
SF3B1	23451	.	GRCh37	2	198267360	198267360	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs374250186	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	51	113	0	ENST00000335508.6:c.1997A>C	p.Lys666Thr	p.K666T	ENST00000335508	NM_012433.2	666	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33356.1	1997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCTTAATA	SITE|p.K666T|c.1997A>C|13,CODON|p.K666N|c.1998G>T|17,CODON|p.K666N|c.1998G>C|13,CODON|p.K666R|c.1997A>G|9,CODON|p.K666M|c.1997A>T|8,BUFFER|p.K666E|c.1996A>G|17,BUFFER|p.K666Q|c.1996A>C|3,BUFFER|p.T663I|c.1988C>T|5,BUFFER|p.H662Q|c.1986C>G|20,BUFFER|p.H662Q|c.1986C>A|9	.	.	hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	14/25	.	.	.	.	.	.	.	.	COSM110698,COSM131553,COSM131556	14/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.994)	.	deleterious(0)	1,1,1	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Lys666Thr,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	2089	113	113	SUCCESS
TRAK2	66008	.	GRCh37	2	202245315	202245315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1337299999	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	106	1	ENST00000332624.3:c.2696C>T	p.Ala899Val	p.A899V	ENST00000332624	NM_015049.2	899	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2347.1	2696	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGGGCAGCA	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.07)	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,missense_variant,p.Ala899Val,ENST00000332624,;	3125	108	89	SUCCESS
TRAK2	66008	.	GRCh37	2	202245316	202245316	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	111	0	ENST00000332624.3:c.2695G>C	p.Ala899Pro	p.A899P	ENST00000332624	NM_015049.2	899	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS2347.1	2695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCAGCAA	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.09)	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,missense_variant,p.Ala899Pro,ENST00000332624,;	3124	111	90	SUCCESS
SNED1	25992	.	GRCh37	2	242003530	242003530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	47	0	ENST00000310397.8:c.2587C>A	p.His863Asn	p.H863N	ENST00000310397	NM_001080437.1	863	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS46562.1	2587	MUTECT|VARSCANS	.	GCTACCACTGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000308893	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.075)	.	tolerated(0.07)	.	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,missense_variant,p.His863Asn,ENST00000405547,;SNED1,missense_variant,p.His863Asn,ENST00000342631,;SNED1,missense_variant,p.His863Asn,ENST00000310397,;SNED1,missense_variant,p.His863Asn,ENST00000401884,;AC005237.4,non_coding_transcript_exon_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000466618,;	2587	47	37	SUCCESS
IFT172	26160	.	GRCh37	2	27688641	27688641	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	71	0	ENST00000260570.3:c.1801A>C	p.Thr601Pro	p.T601P	ENST00000260570	NM_015662.1	601	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS1755.1	1801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTTCCAA	NONE	.	.	hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	.	.	ENSP00000260570	.	17/48	.	.	.	.	.	.	.	.	.	17/48	PASS	ENST00000260570	Transcript	.	.	ENSG00000138002	30391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	deleterious(0)	.	IF172_HUMAN	IFT172	HGNC	H7C161_HUMAN	.	UPI0000353ABB	SNV	IFT172,missense_variant,p.Thr601Pro,ENST00000260570,;IFT172,non_coding_transcript_exon_variant,,ENST00000489492,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;	1905	71	58	SUCCESS
ABCG8	64241	.	GRCh37	2	44099245	44099245	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	54	0	ENST00000272286.2:c.1095G>T	p.Thr365=	p.T365=	ENST00000272286	NM_022437.2	365	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1815.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGAAGGA	NONE	.	.	hmmpanther:PTHR19241	.	.	ENSP00000272286	.	7/13	.	.	.	.	.	.	.	.	COSM3581760	7/13	PASS	ENST00000272286	Transcript	.	.	ENSG00000143921	13887	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ABCG8_HUMAN	ABCG8	HGNC	Q96A01_HUMAN	.	UPI000004C4CD	SNV	ABCG8,synonymous_variant,p.%3D,ENST00000272286,;	1185	54	72	SUCCESS
ST3GAL5	8869	.	GRCh37	2	86080208	86080208	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	18	0	ENST00000377332.3:c.319-4881T>A		p.*107*	ENST00000377332	NM_003896.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1986.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGATAAGG	NONE	.	.	.	.	.	ENSP00000366549	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377332	Transcript	.	.	ENSG00000115525	10872	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAT9_HUMAN	ST3GAL5	HGNC	C9JYS9_HUMAN	.	UPI000015F319	SNV	ST3GAL5,missense_variant,p.Ser109Thr,ENST00000525834,;ST3GAL5,intron_variant,,ENST00000393805,;ST3GAL5,intron_variant,,ENST00000455892,;ST3GAL5,intron_variant,,ENST00000377332,;ST3GAL5,intron_variant,,ENST00000393808,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461199,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000487896,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461892,;ST3GAL5,intron_variant,,ENST00000473122,;ST3GAL5,intron_variant,,ENST00000306262,;ST3GAL5,intron_variant,,ENST00000433665,;ST3GAL5,upstream_gene_variant,,ENST00000461206,;	.	18	28	SUCCESS
FER1L5	90342	.	GRCh37	2	97359397	97359397	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	17	0	ENST00000414152.1:n.3528G>A		p.*1176*	ENST00000414152				0	.	.	.	.	.	A	.	retained_intron	.	.	.	SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGCTGGA	NONE	.	.	.	.	.	.	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;FER1L5,upstream_gene_variant,,ENST00000397978,;	1906	17	23	SUCCESS
HACL1	26061	.	GRCh37	3	15604875	15604875	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs149555880	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	117	303	0	ENST00000321169.5:c.1694G>C	p.Arg565Pro	p.R565P	ENST00000321169	NM_012260.2	565	cGg/cCg	0	T:0.0002	.	.	.	.	G	R/P	protein_coding	YES	CCDS2627.1	1694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCGTGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18968:SF6,hmmpanther:PTHR18968,Gene3D:3.40.50.970,Superfamily_domains:SSF52518	.	T:0.0005	ENSP00000323811	.	16/17	.	.	.	.	.	.	.	.	rs149555880	16/17	PASS	ENST00000321169	Transcript	.	.	ENSG00000131373	17856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	HACL1_HUMAN	HACL1	HGNC	.	.	UPI000012CB25	SNV	HACL1,missense_variant,p.Arg505Pro,ENST00000457447,;HACL1,missense_variant,p.Arg538Pro,ENST00000456194,;HACL1,missense_variant,p.Arg324Pro,ENST00000435217,;HACL1,missense_variant,p.Arg483Pro,ENST00000451445,;HACL1,missense_variant,p.Arg565Pro,ENST00000321169,;HACL1,3_prime_UTR_variant,,ENST00000422591,;HACL1,3_prime_UTR_variant,,ENST00000383779,;	2062	303	235	SUCCESS
KCNH8	131096	.	GRCh37	3	19554731	19554731	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	119	0	ENST00000328405.2:c.2349C>T	p.Pro783=	p.P783=	ENST00000328405	NM_144633.2	783	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2632.1	2349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCCCCAA	BUFFER|p.D782N|c.2344G>A|3	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	.	ENSP00000328813	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,synonymous_variant,p.%3D,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	2615	119	90	SUCCESS
KIAA0226	0	.	GRCh37	3	197403762	197403762	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	23	0	ENST00000296343.5:c.2640A>G	p.Arg880=	p.R880=	ENST00000296343	NM_014687.1	880	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS43195.1	2640	RADIA|VARSCANS	.	ATGCATCTCTC	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7,Pfam_domain:PF13901	.	.	ENSP00000296343	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000296343	Transcript	.	.	ENSG00000145016	28991	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RUBIC_HUMAN	KIAA0226	HGNC	B4DIJ0_HUMAN	.	UPI00001C1DE4	SNV	KIAA0226,synonymous_variant,p.%3D,ENST00000415452,;KIAA0226,synonymous_variant,p.%3D,ENST00000296343,;KIAA0226,synonymous_variant,p.%3D,ENST00000413360,;KIAA0226,synonymous_variant,p.%3D,ENST00000273582,;KIAA0226,synonymous_variant,p.%3D,ENST00000389665,;MIR922,upstream_gene_variant,,ENST00000401223,;	2640	23	32	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913413	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	47	114	0	ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS2694.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CACTACCACAG	SITE|p.T41I|c.122C>T|94,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T41A|c.121A>G|828,CODON|p.T41S|c.121A>T|3,CODON|p.T41P|c.121A>C|6,CODON|p.T41S|c.122C>G|3,CODON|p.T41N|c.122C>A|7,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45P|c.133T>C|225,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913413,COSM5701,COSM5676,COSM5730	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.931)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ile,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	402	114	103	SUCCESS
CDHR4	389118	.	GRCh37	3	49836194	49836194	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	29	0	ENST00000412678.2:c.495+65A>G		p.*165*	ENST00000412678	NM_001007540.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46829.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGTTAATT	NONE	.	.	.	.	.	ENSP00000391409	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	MODIFIER	4/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,3_prime_UTR_variant,,ENST00000487256,;CDHR4,3_prime_UTR_variant,,ENST00000343366,;CDHR4,intron_variant,,ENST00000412678,;FAM212A,upstream_gene_variant,,ENST00000333323,;	.	29	18	SUCCESS
TRAIP	10293	.	GRCh37	3	49867199	49867199	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	28	0	ENST00000331456.2:c.1087G>A	p.Glu363Lys	p.E363K	ENST00000331456	NM_005879.2	363	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2806.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCCTGCA	NONE	.	.	.	.	.	ENSP00000328203	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000331456	Transcript	.	.	ENSG00000183763	30764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.75)	.	TRAIP_HUMAN	TRAIP	HGNC	A4UCT7_HUMAN	.	UPI000006FE67	SNV	TRAIP,missense_variant,p.Glu208Lys,ENST00000469027,;TRAIP,missense_variant,p.Glu363Lys,ENST00000331456,;TRAIP,splice_region_variant,,ENST00000473195,;TRAIP,non_coding_transcript_exon_variant,,ENST00000491060,;TRAIP,downstream_gene_variant,,ENST00000475495,;	1201	28	18	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64582656	64582656	+	synonymous_variant	Silent	SNP	G	G	C	rs781108746	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	31	68	0	ENST00000498707.1:c.4029C>G	p.Thr1343=	p.T1343=	ENST00000498707	NM_182920.1	1343	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2903.1	4029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGGTACT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000418735	.	27/40	.	.	.	.	.	.	.	.	rs781108746	27/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,synonymous_variant,p.%3D,ENST00000481060,;ADAMTS9,synonymous_variant,p.%3D,ENST00000295903,;ADAMTS9,synonymous_variant,p.%3D,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	4372	68	55	SUCCESS
CADM2	253559	.	GRCh37	3	85984981	85984981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	83	204	0	ENST00000407528.2:c.738G>T	p.Leu246Phe	p.L246F	ENST00000407528	NM_001167674.1	246	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33792.1	744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGACTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,missense_variant,p.Leu246Phe,ENST00000407528,;CADM2,missense_variant,p.Leu255Phe,ENST00000383699,;CADM2,missense_variant,p.Leu248Phe,ENST00000405615,;	744	204	197	SUCCESS
TENM3	55714	.	GRCh37	4	183267884	183267884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	80	0	ENST00000511685.1:c.313C>T	p.Leu105Phe	p.L105F	ENST00000511685		105	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47165.1	313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCTCCCT	NONE	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Pfam_domain:PF06484	.	.	ENSP00000424226	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	tolerated_low_confidence(0.08)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Leu105Phe,ENST00000512480,;TENM3,missense_variant,p.Leu105Phe,ENST00000511685,;TENM3,missense_variant,p.Leu105Phe,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000513201,;	436	80	66	SUCCESS
PCDH7	5099	.	GRCh37	4	30726038	30726038	+	synonymous_variant	Silent	SNP	T	T	A	rs749395229	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	43	0	ENST00000361762.2:c.2994T>A	p.Ser998=	p.S998=	ENST00000361762	NM_002589.2	998	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54753.1	2994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTAGTTC	NONE	.	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Pfam_domain:PF08374	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	rs749395229	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000511884,;PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,synonymous_variant,p.%3D,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	2994	43	57	SUCCESS
SMIM14	201895	.	GRCh37	4	39553765	39553765	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	81	231	0	ENST00000295958.5:c.281C>T	p.Pro94Leu	p.P94L	ENST00000295958	NM_174921.1	94	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3456.1	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGGTGGA	NONE	.	.	hmmpanther:PTHR31019,Pfam_domain:PF11027	.	.	ENSP00000295958	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000295958	Transcript	.	.	ENSG00000163683	27321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	SIM14_HUMAN	SMIM14	HGNC	D6R9U3_HUMAN	.	UPI00000420ED	SNV	SMIM14,missense_variant,p.Pro94Leu,ENST00000295958,;SMIM14,synonymous_variant,p.%3D,ENST00000511809,;SMIM14,downstream_gene_variant,,ENST00000505729,;UGDH-AS1,intron_variant,,ENST00000504032,;SMIM14,non_coding_transcript_exon_variant,,ENST00000512441,;SMIM14,non_coding_transcript_exon_variant,,ENST00000510628,;SMIM14,3_prime_UTR_variant,,ENST00000507613,;	668	231	191	SUCCESS
GABRA2	2555	.	GRCh37	4	46390683	46390684	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	237	88	261	0	ENST00000356504.1:c.40_41delinsA	p.Leu14IlefsTer61	p.L14Ifs*61	ENST00000356504	NM_001114175.1	14	CTt/At	0	.	.	.	.	.	T	L/X	protein_coding	YES	CCDS3471.1	40-41	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ACAAAAAGCAGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945:SF218,hmmpanther:PTHR18945,Prints_domain:PR01615	.	.	ENSP00000421828	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	substitution	GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000503806,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000510861,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000515082,;GABRA2,frameshift_variant,p.Leu14IlefsTer59,ENST00000507460,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000506961,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000356504,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000507069,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000381620,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000514090,;GABRA2,5_prime_UTR_variant,,ENST00000540012,;RP11-436F23.1,upstream_gene_variant,,ENST00000502455,;GABRA2,non_coding_transcript_exon_variant,,ENST00000509716,;GABRA2,frameshift_variant,p.Leu14IlefsTer?,ENST00000514193,;GABRA2,frameshift_variant,p.Leu14IlefsTer151,ENST00000513005,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000510233,;	214-215	261	325	SUCCESS
UGT2B10	7365	.	GRCh37	4	69682095	69682095	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	90	235	0	ENST00000265403.7:c.358G>C	p.Asp120His	p.D120H	ENST00000265403	NM_001075.4	120	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	.	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATGACATA	NONE	.	.	hmmpanther:PTHR11926:SF124,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000265403	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000265403	Transcript	.	.	ENSG00000109181	12544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.349)	.	deleterious(0.02)	.	UDB10_HUMAN	UGT2B10	HGNC	.	.	UPI0000137A96	SNV	UGT2B10,missense_variant,p.Asp120His,ENST00000265403,;UGT2B10,missense_variant,p.Asp120His,ENST00000458688,;RP11-468N14.1,downstream_gene_variant,,ENST00000507455,;	385	235	226	SUCCESS
ANKRD17	26057	.	GRCh37	4	73990633	73990633	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	51	0	ENST00000358602.4:c.3489G>A	p.Gln1163=	p.Q1163=	ENST00000358602	NM_032217.3	1163	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS34004.1	3489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCTGTCT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000351416	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	SNV	ANKRD17,synonymous_variant,p.%3D,ENST00000561029,;ANKRD17,synonymous_variant,p.%3D,ENST00000358602,;ANKRD17,synonymous_variant,p.%3D,ENST00000509867,;ANKRD17,synonymous_variant,p.%3D,ENST00000330838,;ANKRD17,synonymous_variant,p.%3D,ENST00000558247,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,3_prime_UTR_variant,,ENST00000560372,;	3606	51	42	SUCCESS
ALB	213	.	GRCh37	4	74279198	74279198	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	29	60	0	ENST00000295897.4:c.905G>T	p.Cys302Phe	p.C302F	ENST00000295897	NM_000477.5	302	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS3555.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGCTGTG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Cys302Phe,ENST00000509063,;ALB,missense_variant,p.Cys147Phe,ENST00000511370,;ALB,missense_variant,p.Cys110Phe,ENST00000415165,;ALB,missense_variant,p.Cys302Phe,ENST00000295897,;ALB,missense_variant,p.Cys152Phe,ENST00000503124,;ALB,missense_variant,p.Cys187Phe,ENST00000401494,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	994	60	64	SUCCESS
ANXA3	306	.	GRCh37	4	79494388	79494388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	46	0	ENST00000264908.6:c.70G>T	p.Ala24Ser	p.A24S	ENST00000264908	NM_005139.2	24	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3584.1	70	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGCTGAA	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,Gene3D:1.10.220.10,Pfam_domain:PF00191,Superfamily_domains:SSF47874	.	.	ENSP00000264908	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,missense_variant,p.Ala24Ser,ENST00000514171,;ANXA3,missense_variant,p.Ala24Ser,ENST00000264908,;ANXA3,missense_variant,p.Ala24Ser,ENST00000512373,;ANXA3,missense_variant,p.Ala24Ser,ENST00000508214,;ANXA3,5_prime_UTR_variant,,ENST00000503570,;ANXA3,intron_variant,,ENST00000512884,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;	449	46	27	SUCCESS
MARCH6	0	.	GRCh37	5	10390611	10390611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	46	0	ENST00000274140.5:c.575A>G	p.Glu192Gly	p.E192G	ENST00000274140	NM_005885.3	192	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34135.1	575	RADIA|VARSCANS	.	AAATGAGGTAA	NONE	.	.	hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.035)	.	tolerated(0.1)	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,missense_variant,p.Glu144Gly,ENST00000449913,;MARCH6,missense_variant,p.Glu192Gly,ENST00000274140,;MARCH6,missense_variant,p.Glu87Gly,ENST00000503788,;MARCH6,downstream_gene_variant,,ENST00000507863,;MARCH6,downstream_gene_variant,,ENST00000510872,;MARCH6,splice_region_variant,,ENST00000511802,;MARCH6,splice_region_variant,,ENST00000502795,;MARCH6,non_coding_transcript_exon_variant,,ENST00000506131,;	707	46	37	SUCCESS
SLC12A7	10723	.	GRCh37	5	1094302	1094302	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	105	2	ENST00000264930.5:c.186C>A	p.Ser62Arg	p.S62R	ENST00000264930	NM_006598.2	62	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS34129.1	186	RADIA|VARSCANS	.	AAGAAGCTCTC	NONE	.	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.19)	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,missense_variant,p.Ser62Arg,ENST00000264930,;	230	107	51	SUCCESS
GRAMD3	0	.	GRCh37	5	125819257	125819257	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	35	0	ENST00000513040.1:c.883A>C	p.Asn295His	p.N295H	ENST00000513040	NM_001146319.1	295	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS54891.1	883	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGAGAACTCT	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF5	.	.	ENSP00000426120	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000513040	Transcript	.	.	ENSG00000155324	24911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.2)	.	GRAM3_HUMAN	GRAMD3	HGNC	Q9BYJ8_HUMAN,B7Z4W8_HUMAN	.	UPI0001914E8F	SNV	GRAMD3,missense_variant,p.Asn257His,ENST00000515200,;GRAMD3,missense_variant,p.Asn171His,ENST00000502348,;GRAMD3,missense_variant,p.Asn288His,ENST00000542322,;GRAMD3,missense_variant,p.Asn257His,ENST00000543198,;GRAMD3,missense_variant,p.Asn280His,ENST00000285689,;GRAMD3,missense_variant,p.Asn295His,ENST00000513040,;GRAMD3,missense_variant,p.Asn264His,ENST00000511134,;GRAMD3,missense_variant,p.Asn176His,ENST00000544396,;GRAMD3,downstream_gene_variant,,ENST00000506445,;RP11-517I3.1,intron_variant,,ENST00000512500,;RP11-517I3.1,intron_variant,,ENST00000515808,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000512579,;GRAMD3,3_prime_UTR_variant,,ENST00000514099,;GRAMD3,3_prime_UTR_variant,,ENST00000513978,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000504859,;GRAMD3,downstream_gene_variant,,ENST00000508523,;	1083	35	41	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140309115	140309115	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	108	0	ENST00000253807.2:c.2433+205G>A		p.*811*	ENST00000253807	NM_018898.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4241.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGAGAAA	NONE	.	.	.	.	.	ENSP00000253807	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,3_prime_UTR_variant,,ENST00000409700,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	.	108	81	SUCCESS
MYO10	4651	.	GRCh37	5	16701447	16701447	+	synonymous_variant	Silent	SNP	T	T	C	rs372673284	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	55	0	ENST00000513610.1:c.3057A>G	p.Arg1019=	p.R1019=	ENST00000513610	NM_012334.2	1019	cgA/cgG	0	G:0.0002	.	.	.	.	C	R	protein_coding	YES	CCDS54834.1	3057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTCGCTG	NONE	byCluster	.	.	.	G:0	ENSP00000421280	.	25/41	.	.	.	.	.	.	.	.	rs372673284	25/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,synonymous_variant,p.%3D,ENST00000274203,;MYO10,synonymous_variant,p.%3D,ENST00000427430,;MYO10,synonymous_variant,p.%3D,ENST00000515803,;MYO10,synonymous_variant,p.%3D,ENST00000505695,;MYO10,synonymous_variant,p.%3D,ENST00000513610,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000510401,;MYO10,downstream_gene_variant,,ENST00000512061,;MYO10,downstream_gene_variant,,ENST00000506343,;	3512	55	52	SUCCESS
NSD1	64324	.	GRCh37	5	176562164	176562164	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	59	0	ENST00000439151.2:c.60G>A	p.Val20=	p.V20=	ENST00000439151	NM_022455.4	20	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4412.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGAATTT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	.	.	ENSP00000395929	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,synonymous_variant,p.%3D,ENST00000361032,;NSD1,synonymous_variant,p.%3D,ENST00000439151,;NSD1,5_prime_UTR_variant,,ENST00000354179,;NSD1,5_prime_UTR_variant,,ENST00000508896,;NSD1,5_prime_UTR_variant,,ENST00000347982,;NSD1,5_prime_UTR_variant,,ENST00000511258,;NSD1,5_prime_UTR_variant,,ENST00000510954,;NSD1,non_coding_transcript_exon_variant,,ENST00000602285,;NSD1,non_coding_transcript_exon_variant,,ENST00000512992,;	105	59	51	SUCCESS
RGS14	10636	.	GRCh37	5	176798894	176798894	+	synonymous_variant	Silent	SNP	C	C	A	rs368278852	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	31	0	ENST00000408923.3:c.1519C>A	p.Arg507=	p.R507=	ENST00000408923	NM_006480.4	507	Cgg/Agg	0	A:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS43405.1	1519	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCGGGTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50877,Pfam_domain:PF02188,SMART_domains:SM00390	.	A:0	ENSP00000386229	.	15/15	.	.	.	.	.	.	.	.	rs368278852	15/15	oxog	ENST00000408923	Transcript	.	.	ENSG00000169220	9996	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS14_HUMAN	RGS14	HGNC	.	.	UPI0000163BE6	SNV	RGS14,synonymous_variant,p.%3D,ENST00000511890,;RGS14,synonymous_variant,p.%3D,ENST00000408923,;RGS14,non_coding_transcript_exon_variant,,ENST00000506944,;RGS14,downstream_gene_variant,,ENST00000503110,;RGS14,non_coding_transcript_exon_variant,,ENST00000514102,;RGS14,non_coding_transcript_exon_variant,,ENST00000503044,;RGS14,non_coding_transcript_exon_variant,,ENST00000425155,;RGS14,downstream_gene_variant,,ENST00000504631,;RGS14,downstream_gene_variant,,ENST00000509289,;RGS14,downstream_gene_variant,,ENST00000512490,;RGS14,downstream_gene_variant,,ENST00000512000,;RGS14,downstream_gene_variant,,ENST00000502731,;RGS14,downstream_gene_variant,,ENST00000514713,;	1707	31	18	SUCCESS
GDNF	2668	.	GRCh37	5	37815756	37815756	+	synonymous_variant	Silent	SNP	G	G	A	rs121918536	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	107	0	ENST00000326524.2:c.633C>T	p.Ile211=	p.I211=	ENST00000326524	NM_000514.3	211	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54845.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	risk_factor	AGTCAGATACA	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF016238,SMART_domains:SM00204,Gene3D:2.10.90.10,Pfam_domain:PF00019,hmmpanther:PTHR12173:SF1,hmmpanther:PTHR12173,PROSITE_profiles:PS51362	.	.	ENSP00000409007	.	3/3	.	.	.	.	.	.	.	.	CM005545,rs121918536	3/3	PASS	ENST00000427982	Transcript	1	.	ENSG00000168621	4232	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	GDNF_HUMAN	GDNF	HGNC	.	.	UPI0000E20965	SNV	GDNF,synonymous_variant,p.%3D,ENST00000515058,;GDNF,synonymous_variant,p.%3D,ENST00000381826,;GDNF,synonymous_variant,p.%3D,ENST00000427982,;GDNF,synonymous_variant,p.%3D,ENST00000344622,;GDNF,synonymous_variant,p.%3D,ENST00000326524,;GDNF,downstream_gene_variant,,ENST00000502572,;GDNF,downstream_gene_variant,,ENST00000510177,;	853	107	83	SUCCESS
SKIV2L2	0	.	GRCh37	5	54637586	54637586	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	102	0	ENST00000230640.5:c.768T>C	p.Tyr256=	p.Y256=	ENST00000230640	NM_015360.4	256	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS3967.1	768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTATATGAG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Gene3D:3.40.50.300,Pfam_domain:PF00270,PIRSF_domain:PIRSF005198,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000230640	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,synonymous_variant,p.%3D,ENST00000545714,;SKIV2L2,synonymous_variant,p.%3D,ENST00000230640,;SKIV2L2,intron_variant,,ENST00000504997,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,3_prime_UTR_variant,,ENST00000505565,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000502953,;	1022	103	93	SUCCESS
PMCHL2	5370	.	GRCh37	5	70671812	70671812	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	54	0	ENST00000450213.2:n.200T>C		p.*67*	ENST00000450213				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTAAATT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000502659	Transcript	.	.	ENSG00000250387	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-136K7.2	Clone_based_vega_gene	.	.	.	SNV	RP11-136K7.2,intron_variant,,ENST00000517705,;RP11-136K7.2,intron_variant,,ENST00000502659,;RP11-136K7.3,upstream_gene_variant,,ENST00000518473,;PMCHL2,non_coding_transcript_exon_variant,,ENST00000450213,;PMCHL2,non_coding_transcript_exon_variant,,ENST00000415808,;PMCHL2,upstream_gene_variant,,ENST00000523548,;PMCHL2,non_coding_transcript_exon_variant,,ENST00000457791,;	.	54	44	SUCCESS
RPF2	84154	.	GRCh37	6	111318428	111318428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	123	0	ENST00000441448.2:c.277G>A	p.Gly93Ser	p.G93S	ENST00000441448	NM_032194.1	93	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS5088.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGGCTCC	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR12728:SF0,hmmpanther:PTHR12728,Pfam_domain:PF04427,SMART_domains:SM00879	.	.	ENSP00000402338	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000441448	Transcript	.	.	ENSG00000197498	20870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.11)	.	RPF2_HUMAN	RPF2	HGNC	Q5VXN0_HUMAN	.	UPI000006E56D	SNV	RPF2,missense_variant,p.Gly93Ser,ENST00000441448,;RPF2,missense_variant,p.Gly60Ser,ENST00000425871,;RPF2,3_prime_UTR_variant,,ENST00000368864,;RPF2,3_prime_UTR_variant,,ENST00000607388,;	369	123	87	SUCCESS
TBC1D32	221322	.	GRCh37	6	121615804	121615804	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	rs765547882	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	8	139	1	ENST00000398212.2:c.1143A>G		p.X381_splice	ENST00000398212	NM_152730.4	381	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS43501.1	1143	MUTECT|MUSE	.	GTAGTTACCTG	NONE	byFrequency	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	11/32	.	.	.	.	.	.	.	.	rs765547882	11/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,synonymous_variant,p.%3D,ENST00000398212,;TBC1D32,synonymous_variant,p.%3D,ENST00000275159,;TBC1D32,splice_region_variant,,ENST00000464622,;	1193	140	141	SUCCESS
SHPRH	257218	.	GRCh37	6	146264776	146264776	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs986945792	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	68	228	1	ENST00000275233.7:c.1741G>T	p.Val581Phe	p.V581F	ENST00000275233		581	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS43513.2	1741	RADIA|SOMATICSNIPER|VARSCANS	.	TGGAACAAGCT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Pfam_domain:PF00176,SMART_domains:SM00487	.	.	ENSP00000356475	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.126)	.	tolerated_low_confidence(0.07)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.Val581Phe,ENST00000275233,;SHPRH,missense_variant,p.Val581Phe,ENST00000438092,;SHPRH,missense_variant,p.Val581Phe,ENST00000367505,;SHPRH,missense_variant,p.Val581Phe,ENST00000367503,;SHPRH,missense_variant,p.Val470Phe,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;	2006	229	171	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151161944	151161944	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	87	0	ENST00000358517.2:c.4070T>G	p.Leu1357Arg	p.L1357R	ENST00000358517		1357	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS34552.1	4070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCTTTGGA	NONE	.	.	.	.	.	ENSP00000356297	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000367328	Transcript	.	.	ENSG00000120278	20884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	SNV	PLEKHG1,missense_variant,p.Leu1357Arg,ENST00000367328,;PLEKHG1,missense_variant,p.Leu1357Arg,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;	4382	87	60	SUCCESS
COL11A2	1302	.	GRCh37	6	33144048	33144048	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	77	0	ENST00000374708.4:c.1944T>A	p.His648Gln	p.H648Q	ENST00000374708	NM_080681.2	648	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS43452.1	1944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTATGACC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	26/64	.	.	.	.	.	.	.	.	.	26/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.His674Gln,ENST00000395197,;COL11A2,missense_variant,p.His687Gln,ENST00000374713,;COL11A2,missense_variant,p.His627Gln,ENST00000361917,;COL11A2,missense_variant,p.His653Gln,ENST00000374712,;COL11A2,missense_variant,p.His713Gln,ENST00000357486,;COL11A2,missense_variant,p.His648Gln,ENST00000374708,;COL11A2,missense_variant,p.His734Gln,ENST00000341947,;COL11A2,missense_variant,p.His708Gln,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	2203	77	72	SUCCESS
SLC35B2	347734	.	GRCh37	6	44223037	44223037	+	synonymous_variant	Silent	SNP	G	G	A	rs538318523	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	67	0	ENST00000393812.3:c.705C>T	p.Tyr235=	p.Y235=	ENST00000393812	NM_178148.2	235	taC/taT	0	.	A:0.0015	.	A:0	.	A	Y	protein_coding	YES	CCDS34462.1	705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCGTAGCT	NONE	byFrequency|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10778,hmmpanther:PTHR10778:SF13,Pfam_domain:PF08449	A:0	.	ENSP00000377401	A:0	4/4	.	.	.	.	.	.	.	.	rs538318523	4/4	PASS	ENST00000393812	Transcript	.	A:0.0004	ENSG00000157593	16872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	S35B2_HUMAN	SLC35B2	HGNC	B4DDM2_HUMAN,B3KVY9_HUMAN	.	UPI00000705AE	SNV	SLC35B2,synonymous_variant,p.%3D,ENST00000538577,;SLC35B2,synonymous_variant,p.%3D,ENST00000537814,;SLC35B2,synonymous_variant,p.%3D,ENST00000393812,;SLC35B2,3_prime_UTR_variant,,ENST00000393810,;HSP90AB1,downstream_gene_variant,,ENST00000371646,;HSP90AB1,downstream_gene_variant,,ENST00000353801,;NFKBIE,downstream_gene_variant,,ENST00000275015,;NFKBIE,downstream_gene_variant,,ENST00000443607,;HSP90AB1,downstream_gene_variant,,ENST00000371554,;MIR4647,upstream_gene_variant,,ENST00000583964,;SLC35B2,non_coding_transcript_exon_variant,,ENST00000495706,;	849	67	54	SUCCESS
FBXL4	26235	.	GRCh37	6	99322272	99322272	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766646887	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	112	0	ENST00000229971.1:c.1748C>A	p.Ser583Tyr	p.S583Y	ENST00000229971	NM_012160.4	583	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5041.1	1748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGATTCC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00367,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	10/10	.	.	.	.	.	.	.	.	rs766646887	10/10	PASS	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0.01)	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,missense_variant,p.Ser583Tyr,ENST00000229971,;FBXL4,missense_variant,p.Ser583Tyr,ENST00000369244,;	2177	112	99	SUCCESS
PNPLA8	50640	.	GRCh37	7	108131857	108131857	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	44	106	0	ENST00000257694.8:c.1680T>A	p.Pro560=	p.P560=	ENST00000257694	NM_001256007.1	560	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34733.1	1680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTAGGACA	NONE	.	.	hmmpanther:PTHR24185,Pfam_domain:PF01734,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151	.	.	ENSP00000410804	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000422087	Transcript	.	.	ENSG00000135241	28900	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL8_HUMAN	PNPLA8	HGNC	C9JAX4_HUMAN,C9J9W9_HUMAN	.	UPI0000073D34	SNV	PNPLA8,synonymous_variant,p.%3D,ENST00000453144,;PNPLA8,synonymous_variant,p.%3D,ENST00000257694,;PNPLA8,synonymous_variant,p.%3D,ENST00000388728,;PNPLA8,synonymous_variant,p.%3D,ENST00000426128,;PNPLA8,synonymous_variant,p.%3D,ENST00000453085,;PNPLA8,synonymous_variant,p.%3D,ENST00000422087,;PNPLA8,synonymous_variant,p.%3D,ENST00000436062,;	2087	106	126	SUCCESS
MPP6	0	.	GRCh37	7	24705683	24705683	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	73	0	ENST00000222644.5:c.927G>C	p.Met309Ile	p.M309I	ENST00000222644		309	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS5388.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGATGTA	NONE	.	.	Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122	.	.	ENSP00000222644	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000222644	Transcript	.	.	ENSG00000105926	18167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.28)	.	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,missense_variant,p.Met309Ile,ENST00000396475,;MPP6,missense_variant,p.Met197Ile,ENST00000409761,;MPP6,missense_variant,p.Met309Ile,ENST00000222644,;MPP6,downstream_gene_variant,,ENST00000430180,;MPP6,missense_variant,p.Met17Ile,ENST00000464384,;MPP6,downstream_gene_variant,,ENST00000472674,;	1177	73	80	SUCCESS
RSPH10B	222967	.	GRCh37	7	5967916	5967916	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	274	113	556	0	ENST00000337579.3:c.2343A>G	p.Glu781=	p.E781=	ENST00000337579		781	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS34598.1	2343	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTTCTTC	NONE	.	.	.	.	.	ENSP00000385443	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000405415	Transcript	.	.	ENSG00000155026	27362	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	R10B1_HUMAN	RSPH10B	HGNC	C9JJN2_HUMAN	.	UPI000020EAA5	SNV	RSPH10B,synonymous_variant,p.%3D,ENST00000441023,;RSPH10B,synonymous_variant,p.%3D,ENST00000337579,;RSPH10B,synonymous_variant,p.%3D,ENST00000404406,;RSPH10B,synonymous_variant,p.%3D,ENST00000405415,;RSPH10B,3_prime_UTR_variant,,ENST00000539903,;CCZ1,downstream_gene_variant,,ENST00000537980,;CCZ1,downstream_gene_variant,,ENST00000325974,;RSPH10B,non_coding_transcript_exon_variant,,ENST00000535104,;CCZ1,downstream_gene_variant,,ENST00000496860,;CCZ1,downstream_gene_variant,,ENST00000474507,;	2730	556	387	SUCCESS
ABCB4	5244	.	GRCh37	7	87051459	87051459	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	46	174	0	ENST00000265723.4:c.2294C>T	p.Ser765Phe	p.S765F	ENST00000265723	NM_000443.3	765	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS5606.1	2294	RADIA|VARSCANS	.	AAAAAGAAATA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265723	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000265723	Transcript	.	.	ENSG00000005471	45	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.335)	.	deleterious(0.03)	.	MDR3_HUMAN	ABCB4	HGNC	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN	.	UPI000013D66B	SNV	ABCB4,missense_variant,p.Ser765Phe,ENST00000453593,;ABCB4,missense_variant,p.Ser765Phe,ENST00000265723,;ABCB4,missense_variant,p.Ser765Phe,ENST00000358400,;ABCB4,missense_variant,p.Ser765Phe,ENST00000545634,;ABCB4,missense_variant,p.Ser765Phe,ENST00000359206,;ABCB4,downstream_gene_variant,,ENST00000469770,;	2406	174	227	SUCCESS
PVRIG	79037	.	GRCh37	7	99818613	99818613	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	90	0	ENST00000317271.2:c.720C>A	p.Cys240Ter	p.C240*	ENST00000317271	NM_024070.3	240	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS5690.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCGCCC	NONE	.	.	.	.	.	ENSP00000316675	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000317271	Transcript	.	.	ENSG00000213413	32190	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRIG_HUMAN	PVRIG	HGNC	.	.	UPI000013FFF0	SNV	PVRIG,stop_gained,p.Cys240Ter,ENST00000317271,;GATS,intron_variant,,ENST00000436886,;AC005071.1,upstream_gene_variant,,ENST00000410550,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000435519,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000414739,;PVRIG,downstream_gene_variant,,ENST00000471803,;GATS,downstream_gene_variant,,ENST00000538588,;STAG3,3_prime_UTR_variant,,ENST00000451963,;GATS,downstream_gene_variant,,ENST00000292369,;	1083	90	93	SUCCESS
ST18	9705	.	GRCh37	8	53085085	53085085	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	25	0	ENST00000276480.7:c.336C>A	p.Ser112=	p.S112=	ENST00000276480	NM_014682.2	112	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6149.1	336	RADIA|VARSCANS	.	CTACTGGAGTT	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	.	.	ENSP00000276480	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,synonymous_variant,p.%3D,ENST00000517580,;ST18,synonymous_variant,p.%3D,ENST00000276480,;ST18,non_coding_transcript_exon_variant,,ENST00000520257,;ST18,synonymous_variant,p.%3D,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;	1020	25	23	SUCCESS
ODF2	4957	.	GRCh37	9	131256871	131256871	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	47	0	ENST00000434106.3:c.1835A>C	p.Glu612Ala	p.E612A	ENST00000434106	NM_153433.1	612	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS56588.1	1835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGAGTGCC	BUFFER|p.A584A|c.1752G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162	.	.	ENSP00000403453	.	17/21	.	.	.	.	.	.	.	.	COSM487088,COSM1137954	17/21	PASS	ENST00000434106	Transcript	.	.	ENSG00000136811	8114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.331)	.	deleterious(0.04)	1,1	ODFP2_HUMAN	ODF2	HGNC	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN	.	UPI0000211922	SNV	ODF2,missense_variant,p.Glu656Ala,ENST00000372814,;ODF2,missense_variant,p.Glu32Ala,ENST00000483070,;ODF2,missense_variant,p.Glu531Ala,ENST00000448249,;ODF2,missense_variant,p.Glu607Ala,ENST00000351030,;ODF2,missense_variant,p.Glu588Ala,ENST00000393527,;ODF2,missense_variant,p.Glu612Ala,ENST00000604420,;ODF2,missense_variant,p.Glu588Ala,ENST00000444119,;ODF2,missense_variant,p.Glu612Ala,ENST00000434106,;ODF2,missense_variant,p.Glu593Ala,ENST00000372791,;ODF2,missense_variant,p.Glu593Ala,ENST00000546203,;ODF2,missense_variant,p.Glu607Ala,ENST00000372807,;ODF2,missense_variant,p.Glu612Ala,ENST00000393533,;ODF2,upstream_gene_variant,,ENST00000488909,;	2198	47	35	SUCCESS
RP11-54D18.3	0	.	GRCh37	9	15048007	15048007	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs374043811	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	113	338	0	ENST00000609203.1:n.654C>A		p.*218*	ENST00000609203				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATGTGTAG	NONE	.	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	rs374043811	4/10	PASS	ENST00000609203	Transcript	.	.	ENSG00000232000	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-54D18.3	Clone_based_vega_gene	.	.	.	SNV	RP11-54D18.3,non_coding_transcript_exon_variant,,ENST00000609203,;RP11-54D18.3,non_coding_transcript_exon_variant,,ENST00000423965,;	654	339	286	SUCCESS
GRHPR	9380	.	GRCh37	9	37428607	37428607	+	intron_variant	Intron	SNP	T	T	G	rs376674882	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000318158.6:c.493+38T>G		p.*165*	ENST00000318158	NM_012203.1			0	C:0	.	.	.	.	G	.	protein_coding	YES	CCDS6609.1	.	RADIA|MUTECT|MUSE	.	GGCTCTCACAG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000313432	.	.	.	.	.	.	.	.	.	.	rs376674882	.	PASS	ENST00000318158	Transcript	.	.	ENSG00000137106	4570	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRHPR_HUMAN	GRHPR	HGNC	.	.	UPI0000073E2F	SNV	GRHPR,intron_variant,,ENST00000318158,;GRHPR,intron_variant,,ENST00000607784,;GRHPR,non_coding_transcript_exon_variant,,ENST00000493368,;GRHPR,intron_variant,,ENST00000491488,;GRHPR,intron_variant,,ENST00000460882,;GRHPR,upstream_gene_variant,,ENST00000512404,;GRHPR,upstream_gene_variant,,ENST00000482603,;GRHPR,downstream_gene_variant,,ENST00000487399,;GRHPR,non_coding_transcript_exon_variant,,ENST00000480596,;GRHPR,non_coding_transcript_exon_variant,,ENST00000497693,;GRHPR,intron_variant,,ENST00000377824,;GRHPR,upstream_gene_variant,,ENST00000494290,;	.	11	12	SUCCESS
C9orf170	0	.	GRCh37	9	89763702	89763702	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	31	0	ENST00000375941.2:c.57G>T	p.Gly19=	p.G19=	ENST00000375941	NM_001001709.2	19	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS35058.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGGTGTG	NONE	.	.	.	.	.	ENSP00000365108	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375941	Transcript	.	.	ENSG00000204446	33817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI170_HUMAN	C9orf170	HGNC	.	.	UPI00001C0E2E	SNV	C9orf170,synonymous_variant,p.%3D,ENST00000375941,;	144	31	23	SUCCESS
COL4A5	1287	.	GRCh37	X	107844710	107844710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	61	0	ENST00000361603.2:c.2036T>C	p.Leu679Pro	p.L679P	ENST00000361603	NM_000495.4	679	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS35366.1	2036	MUTECT|VARSCANS	.	AGGTCTTCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	26/53	.	.	.	.	.	.	.	.	.	26/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Leu679Pro,ENST00000328300,;COL4A5,missense_variant,p.Leu679Pro,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	2280	61	46	SUCCESS
CNGA2	1260	.	GRCh37	X	150908161	150908161	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377114471	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	41	0	ENST00000329903.4:c.331G>A	p.Gly111Arg	p.G111R	ENST00000329903	NM_005140.1	111	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14701.1	331	RADIA|VARSCANS	.	AGGAGGGGGAT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF389	.	.	ENSP00000328478	.	3/6	.	.	.	.	.	.	.	.	rs377114471	3/6	PASS	ENST00000329903	Transcript	.	.	ENSG00000183862	2149	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.391)	.	tolerated(0.09)	.	CNGA2_HUMAN	CNGA2	HGNC	.	.	UPI000003E7AE	SNV	CNGA2,missense_variant,p.Gly111Arg,ENST00000329903,;	364	41	39	SUCCESS
GDPD2	54857	.	GRCh37	X	69644840	69644840	+	synonymous_variant	Silent	SNP	C	C	T	rs762112029	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	33	46	0	ENST00000374382.3:c.6C>T	p.Ala2=	p.A2=	ENST00000374382	NM_017711.3	2	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55437.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGAGTC	NONE	byFrequency	.	.	.	.	ENSP00000414019	.	2/17	.	.	.	.	.	.	.	.	rs762112029	2/17	PASS	ENST00000453994	Transcript	.	.	ENSG00000130055	25974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDPD2_HUMAN	GDPD2	HGNC	.	.	UPI00017A7EF7	SNV	GDPD2,synonymous_variant,p.%3D,ENST00000453994,;GDPD2,synonymous_variant,p.%3D,ENST00000374382,;GDPD2,intron_variant,,ENST00000536730,;GDPD2,intron_variant,,ENST00000538649,;KIF4A,downstream_gene_variant,,ENST00000374403,;GDPD2,upstream_gene_variant,,ENST00000472623,;	367	46	35	SUCCESS
ZCCHC5	0	.	GRCh37	X	77913190	77913190	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	31	32	0	ENST00000321110.1:c.728C>A	p.Thr243Asn	p.T243N	ENST00000321110	NM_152694.2	243	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS14440.1	728	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGAAGGTTAAA	NONE	.	.	hmmpanther:PTHR15503:SF7,hmmpanther:PTHR15503	.	.	ENSP00000316794	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321110	Transcript	.	.	ENSG00000179300	22997	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.036)	.	deleterious(0.01)	.	ZCHC5_HUMAN	ZCCHC5	HGNC	.	.	UPI00000710DD	SNV	ZCCHC5,missense_variant,p.Thr243Asn,ENST00000321110,;	1024	33	34	SUCCESS
CNNM1	26507	.	GRCh37	10	101120689	101120689	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	31	0	ENST00000356713.4:c.1815C>A	p.Ile605=	p.I605=	ENST00000356713	NM_020348.2	605	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7478.2	1815	RADIA|VARSCANS	.	AAGATCTCACC	NONE	.	.	hmmpanther:PTHR12064:SF28,hmmpanther:PTHR12064	.	.	ENSP00000349147	.	3/11	.	.	.	.	.	.	.	.	.	3/11	nonpreferredpair,oxog	ENST00000356713	Transcript	.	.	ENSG00000119946	102	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNNM1_HUMAN	CNNM1	HGNC	F2YHU6_HUMAN,B3KPD2_HUMAN	.	UPI0000E19A44	SNV	CNNM1,synonymous_variant,p.%3D,ENST00000370534,;CNNM1,synonymous_variant,p.%3D,ENST00000446890,;CNNM1,synonymous_variant,p.%3D,ENST00000370528,;CNNM1,synonymous_variant,p.%3D,ENST00000356713,;	2104	31	35	SUCCESS
PLEKHA1	59338	.	GRCh37	10	124166157	124166157	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs757740700	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	56	136	0	ENST00000368990.3:c.310G>T	p.Val104Leu	p.V104L	ENST00000368990	NM_001001974.2	104	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS7629.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGGTAAAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14336,hmmpanther:PTHR14336:SF4,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000357986	.	5/12	.	.	.	.	.	.	.	.	rs757740700	5/12	nonpreferredpair	ENST00000368990	Transcript	.	.	ENSG00000107679	14335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	deleterious(0.01)	.	PKHA1_HUMAN	PLEKHA1	HGNC	R4GMZ9_HUMAN,B3KQL5_HUMAN	.	UPI000000D9DC	SNV	PLEKHA1,missense_variant,p.Val104Leu,ENST00000392799,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000368988,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000538022,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000368990,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000368989,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000433307,;PLEKHA1,missense_variant,p.Val104Leu,ENST00000463663,;PLEKHA1,intron_variant,,ENST00000494222,;	441	137	131	SUCCESS
CUZD1	50624	.	GRCh37	10	124605313	124605313	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866395304	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	17	0	ENST00000368904.1:c.47C>T	p.Ser16Phe	p.S16F	ENST00000368904		16	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7631.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AACAGGAGAGA	NONE	.	.	PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000357900	.	3/11	.	.	.	.	.	.	.	.	.	3/11	nonpreferredpair	ENST00000368904	Transcript	.	.	ENSG00000138161	17937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.317)	.	tolerated_low_confidence(0.07)	.	CUZD1_HUMAN	CUZD1	HGNC	.	.	UPI000004C655	SNV	CUZD1,missense_variant,p.Ser16Phe,ENST00000392790,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368904,;CUZD1,missense_variant,p.Ser16Phe,ENST00000545804,;FAM24B,downstream_gene_variant,,ENST00000368896,;FAM24B,downstream_gene_variant,,ENST00000368898,;FAM24B,downstream_gene_variant,,ENST00000462859,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368900,;CUZD1,missense_variant,p.Ser16Phe,ENST00000368901,;CUZD1,missense_variant,p.Ser16Phe,ENST00000338948,;	997	17	17	SUCCESS
DOCK1	1793	.	GRCh37	10	128850978	128850978	+	synonymous_variant	Silent	SNP	C	C	T	rs369997788	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	62	0	ENST00000280333.6:c.2172C>T	p.Asp724=	p.D724=	ENST00000280333	NM_001380.3	724	gaC/gaT	0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	.	2172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACGGTGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371	T:0.005	T:0.0001	ENSP00000280333	T:0	22/52	.	.	.	.	.	.	.	.	rs369997788	22/52	nonpreferredpair	ENST00000280333	Transcript	.	T:0.0010	ENSG00000150760	2987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,synonymous_variant,p.%3D,ENST00000280333,;	2281	62	64	SUCCESS
PSAP	5660	.	GRCh37	10	73610968	73610968	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	41	0	ENST00000394936.3:c.11T>A	p.Leu4His	p.L4H	ENST00000394936		4	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7311.1	11	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGGGCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF36,PIRSF_domain:PIRSF002431	.	.	ENSP00000378394	.	1/14	.	.	.	.	.	.	.	.	.	1/14	nonpreferredpair	ENST00000394936	Transcript	1	.	ENSG00000197746	9498	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.216)	.	deleterious(0)	.	SAP_HUMAN	PSAP	HGNC	.	.	UPI0000000DBF	SNV	PSAP,missense_variant,p.Leu4His,ENST00000394934,;PSAP,missense_variant,p.Leu4His,ENST00000394936,;	159	41	45	SUCCESS
HMBS	3145	.	GRCh37	11	118963906	118963907	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	35	0	ENST00000278715.3:c.999_1000del	p.Leu334GlyfsTer24	p.L334Gfs*24	ENST00000278715	NM_000190.3	333	aaCTtg/aatg	0	.	.	.	.	.	-	NL/NX	protein_coding	YES	CCDS8409.1	999-1000	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGAACTTGGGC	NONE	.	.	Superfamily_domains:0047053,PIRSF_domain:PIRSF001438,Gene3D:1gtkA03,hmmpanther:PTHR11557,HAMAP:MF_00260	.	.	ENSP00000278715	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000278715	Transcript	.	.	ENSG00000256269	4982	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEM3_HUMAN	HMBS	HGNC	Q68Y91_HUMAN,Q0G847_HUMAN,F5GY90_HUMAN,B5U9V4_HUMAN	.	UPI000012C47A	deletion	HMBS,frameshift_variant,p.Leu317GlyfsTer24,ENST00000392841,;HMBS,frameshift_variant,p.Leu277GlyfsTer24,ENST00000542729,;HMBS,frameshift_variant,p.Leu317GlyfsTer24,ENST00000442944,;HMBS,frameshift_variant,p.Leu303GlyfsTer24,ENST00000543090,;HMBS,frameshift_variant,p.Leu334GlyfsTer24,ENST00000278715,;HMBS,frameshift_variant,p.Leu294GlyfsTer24,ENST00000544387,;HMBS,frameshift_variant,p.Leu317GlyfsTer24,ENST00000537841,;H2AFX,downstream_gene_variant,,ENST00000530167,;HMBS,downstream_gene_variant,,ENST00000546302,;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000536813,;HMBS,downstream_gene_variant,,ENST00000535253,;DPAGT1,downstream_gene_variant,,ENST00000409993,;DPAGT1,downstream_gene_variant,,ENST00000354202,;DPAGT1,downstream_gene_variant,,ENST00000432443,;HMBS,downstream_gene_variant,,ENST00000536185,;HMBS,downstream_gene_variant,,ENST00000534956,;HMBS,non_coding_transcript_exon_variant,,ENST00000543543,;HMBS,non_coding_transcript_exon_variant,,ENST00000539045,;HMBS,non_coding_transcript_exon_variant,,ENST00000542044,;HMBS,non_coding_transcript_exon_variant,,ENST00000546226,;HMBS,non_coding_transcript_exon_variant,,ENST00000544182,;HMBS,downstream_gene_variant,,ENST00000535793,;HMBS,downstream_gene_variant,,ENST00000542345,;DPAGT1,downstream_gene_variant,,ENST00000525456,;HMBS,downstream_gene_variant,,ENST00000543821,;DPAGT1,downstream_gene_variant,,ENST00000442480,;HMBS,downstream_gene_variant,,ENST00000544360,;DPAGT1,downstream_gene_variant,,ENST00000530052,;HMBS,downstream_gene_variant,,ENST00000545901,;DPAGT1,downstream_gene_variant,,ENST00000392834,;DPAGT1,downstream_gene_variant,,ENST00000524658,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000461999,;HMBS,downstream_gene_variant,,ENST00000542822,;H2AFX,downstream_gene_variant,,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000414373,;DPAGT1,downstream_gene_variant,,ENST00000533687,;HMBS,downstream_gene_variant,,ENST00000545621,;	1150-1151	35	22	SUCCESS
MOB2	81532	.	GRCh37	11	1491556	1491556	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs565130082	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	48	0	ENST00000329957.6:c.653G>A	p.Arg218Gln	p.R218Q	ENST00000329957	NM_001172223.1	218	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS53591.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCGAGCA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF21,Pfam_domain:PF03637,Gene3D:1pi1A00,Superfamily_domains:0049093	T:0.002	.	ENSP00000328694	T:0	5/5	.	.	.	.	.	.	.	.	rs565130082	5/5	nonpreferredpair	ENST00000329957	Transcript	.	T:0.0004	ENSG00000182208	24904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	T:0	tolerated(0.11)	.	MOB2_HUMAN	MOB2	HGNC	.	.	UPI00000373CD	SNV	MOB2,missense_variant,p.Arg218Gln,ENST00000329957,;MOB2,non_coding_transcript_exon_variant,,ENST00000526462,;MOB2,non_coding_transcript_exon_variant,,ENST00000531976,;MOB2,downstream_gene_variant,,ENST00000526698,;	843	48	55	SUCCESS
HNRNPUL2	221092	.	GRCh37	11	62491884	62491884	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	39	94	0	ENST00000301785.5:c.553A>C	p.Ser185Arg	p.S185R	ENST00000301785	NM_001079559.2	185	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS41659.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTATCCT	NONE	.	.	hmmpanther:PTHR12381:SF43,hmmpanther:PTHR12381	.	.	ENSP00000301785	.	2/14	.	.	.	.	.	.	.	.	.	2/14	nonpreferredpair	ENST00000301785	Transcript	.	.	ENSG00000214753	25451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.52)	.	HNRL2_HUMAN	HNRNPUL2	HGNC	.	.	UPI0000161949	SNV	HNRNPUL2,missense_variant,p.Ser185Arg,ENST00000301785,;TTC9C,upstream_gene_variant,,ENST00000530625,;TTC9C,upstream_gene_variant,,ENST00000513247,;TTC9C,upstream_gene_variant,,ENST00000316461,;TTC9C,upstream_gene_variant,,ENST00000532583,;HNRNPUL2-BSCL2,missense_variant,p.Ser185Arg,ENST00000403734,;TTC9C,upstream_gene_variant,,ENST00000294161,;HNRNPUL2,upstream_gene_variant,,ENST00000540127,;	746	94	82	SUCCESS
NRXN2	9379	.	GRCh37	11	64434897	64434897	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	41	0	ENST00000265459.6:c.1623A>G	p.Gly541=	p.G541=	ENST00000265459	NM_015080.3	541	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8077.1	1623	RADIA|VARSCANS	.	CCAGCTCCACC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000265459	.	9/23	.	.	.	.	.	.	.	.	.	9/23	nonpreferredpair	ENST00000265459	Transcript	.	.	ENSG00000110076	8009	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NRX2A_HUMAN	NRXN2	HGNC	.	.	UPI0000130AA2	SNV	NRXN2,synonymous_variant,p.%3D,ENST00000377551,;NRXN2,synonymous_variant,p.%3D,ENST00000265459,;NRXN2,synonymous_variant,p.%3D,ENST00000409571,;NRXN2,synonymous_variant,p.%3D,ENST00000377559,;NRXN2,downstream_gene_variant,,ENST00000417749,;NRXN2,downstream_gene_variant,,ENST00000442300,;NRXN2,downstream_gene_variant,,ENST00000437746,;	2085	41	38	SUCCESS
MRPL21	219927	.	GRCh37	11	68664055	68664055	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	59	0	ENST00000362034.2:c.324G>C	p.Val108=	p.V108=	ENST00000362034	NM_181515.1	108	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS8186.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCACCTT	NONE	.	.	hmmpanther:PTHR21349,hmmpanther:PTHR21349:SF0,Pfam_domain:PF00829,TIGRFAM_domain:TIGR00061,Superfamily_domains:SSF141091	.	.	ENSP00000354580	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000362034	Transcript	.	.	ENSG00000197345	14479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM21_HUMAN	MRPL21	HGNC	F5H7V8_HUMAN,F5H4R5_HUMAN	.	UPI00001A95D2	SNV	MRPL21,synonymous_variant,p.%3D,ENST00000450904,;MRPL21,synonymous_variant,p.%3D,ENST00000362034,;MRPL21,synonymous_variant,p.%3D,ENST00000567045,;MRPL21,synonymous_variant,p.%3D,ENST00000541279,;MRPL21,3_prime_UTR_variant,,ENST00000541265,;MRPL21,3_prime_UTR_variant,,ENST00000544567,;MRPL21,3_prime_UTR_variant,,ENST00000565125,;MRPL21,downstream_gene_variant,,ENST00000536637,;	334	59	56	SUCCESS
NOX4	50507	.	GRCh37	11	89069054	89069054	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	161	340	0	ENST00000263317.4:c.1575G>C	p.Arg525=	p.R525=	ENST00000263317		525	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS8285.1	1575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCACCGAGG	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	.	.	ENSP00000263317	.	17/18	.	.	.	.	.	.	.	.	.	17/18	nonpreferredpair	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,synonymous_variant,p.%3D,ENST00000375979,;NOX4,synonymous_variant,p.%3D,ENST00000535633,;NOX4,synonymous_variant,p.%3D,ENST00000527956,;NOX4,synonymous_variant,p.%3D,ENST00000542487,;NOX4,synonymous_variant,p.%3D,ENST00000343727,;NOX4,synonymous_variant,p.%3D,ENST00000413594,;NOX4,synonymous_variant,p.%3D,ENST00000532825,;NOX4,synonymous_variant,p.%3D,ENST00000531342,;NOX4,synonymous_variant,p.%3D,ENST00000527626,;NOX4,synonymous_variant,p.%3D,ENST00000534731,;NOX4,synonymous_variant,p.%3D,ENST00000263317,;NOX4,synonymous_variant,p.%3D,ENST00000525196,;NOX4,synonymous_variant,p.%3D,ENST00000528341,;NOX4,synonymous_variant,p.%3D,ENST00000424319,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000524473,;	1814	340	373	SUCCESS
KIAA1033	0	.	GRCh37	12	105557965	105557965	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	103	0	ENST00000332180.5:c.3234G>A	p.Glu1078=	p.E1078=	ENST00000332180	NM_015275.1	1078	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS41826.1	3234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAGAAATA	NONE	.	.	hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14746	.	.	ENSP00000328062	.	31/33	.	.	.	.	.	.	.	.	.	31/33	nonpreferredpair	ENST00000332180	Transcript	.	.	ENSG00000136051	29174	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WASH7_HUMAN	KIAA1033	HGNC	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN	.	UPI00001C1F3B	SNV	KIAA1033,synonymous_variant,p.%3D,ENST00000332180,;KIAA1033,downstream_gene_variant,,ENST00000551224,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000547171,;KIAA1033,downstream_gene_variant,,ENST00000551290,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000550036,;KIAA1033,downstream_gene_variant,,ENST00000550786,;	3321	103	71	SUCCESS
MIR620	693205	.	GRCh37	12	116586413	116586413	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	51	61	0	ENST00000385232.1:n.47A>G		p.*16*	ENST00000385232				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9177.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AGATATCTATA	NONE	.	.	.	.	.	ENSP00000281928	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODIFIER	2/30	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,intron_variant,,ENST00000281928,;MIR620,non_coding_transcript_exon_variant,,ENST00000385232,;MED13L,intron_variant,,ENST00000551197,;	.	62	76	SUCCESS
MLXIP	22877	.	GRCh37	12	122614579	122614579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	60	0	ENST00000319080.7:c.830T>C	p.Leu277Pro	p.L277P	ENST00000319080	NM_014938.4_dupl16	277	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCTCATGT	NONE	.	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	.	.	ENSP00000312834	.	6/17	.	.	.	.	.	.	.	.	.	6/17	nonpreferredpair	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,missense_variant,p.Leu28Pro,ENST00000535430,;MLXIP,missense_variant,p.Leu277Pro,ENST00000319080,;MLXIP,upstream_gene_variant,,ENST00000366272,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,upstream_gene_variant,,ENST00000377037,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,non_coding_transcript_exon_variant,,ENST00000538061,;MLXIP,downstream_gene_variant,,ENST00000535876,;MLXIP,upstream_gene_variant,,ENST00000541750,;	962	60	63	SUCCESS
HCAR1	27198	.	GRCh37	12	123214801	123214801	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753319794	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	39	0	ENST00000432564.1:c.86G>A	p.Gly29Asp	p.G29D	ENST00000432564	NM_032554.3	29	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9236.1	86	RADIA|VARSCANS	.	GTGCGCCCAGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24231:SF29,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000389255	.	1/2	.	.	.	.	.	.	.	.	rs753319794,COSM135612	1/2	nonpreferredpair	ENST00000432564	Transcript	.	.	ENSG00000196917	4532	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	HCAR1_HUMAN	HCAR1	HGNC	.	.	UPI000003BC7A	SNV	HCAR1,missense_variant,p.Gly29Asp,ENST00000432564,;HCAR1,missense_variant,p.Gly29Asp,ENST00000356987,;HCAR1,missense_variant,p.Gly29Asp,ENST00000436083,;RP11-324E6.9,upstream_gene_variant,,ENST00000602891,;	329	39	34	SUCCESS
DNAH10	196385	.	GRCh37	12	124377824	124377824	+	synonymous_variant	Silent	SNP	C	C	T	rs1342873412	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	62	0	ENST00000409039.3:c.8686C>T	p.Leu2896=	p.L2896=	ENST00000409039	NM_207437.3	2896	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9255.2	8686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCCTGAGT	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12780,Gene3D:3.40.50.300	.	.	ENSP00000386770	.	52/78	.	.	.	.	.	.	.	.	.	52/78	nonpreferredpair	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;	8711	62	59	SUCCESS
TMTC1	83857	.	GRCh37	12	29659790	29659790	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757642370	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	47	121	0	ENST00000539277.1:c.2638G>A	p.Asp880Asn	p.D880N	ENST00000539277	NM_001193451.1	880	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS53772.1	2638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATCCTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF353	.	.	ENSP00000442046	.	18/18	.	.	.	.	.	.	.	.	rs757642370	18/18	nonpreferredpair	ENST00000539277	Transcript	.	.	ENSG00000133687	24099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.06)	.	TMTC1_HUMAN	TMTC1	HGNC	B3KVW1_HUMAN	.	UPI0001DD37FA	SNV	TMTC1,missense_variant,p.Asp772Asn,ENST00000256062,;TMTC1,missense_variant,p.Asp942Asn,ENST00000551659,;TMTC1,missense_variant,p.Asp880Asn,ENST00000539277,;TMTC1,missense_variant,p.Asp904Asn,ENST00000552618,;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000552925,;	2697	121	105	SUCCESS
MCRS1	10445	.	GRCh37	12	49960525	49960525	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	32	0	ENST00000343810.4:c.-11A>G		p.*4*	ENST00000343810	NM_006337.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31795.1	.	RADIA|VARSCANS	.	TACAGTCCCAA	NONE	.	303	.	.	.	ENSP00000349640	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000357123	Transcript	.	.	ENSG00000187778	6960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCRS1_HUMAN	MCRS1	HGNC	Q7Z372_HUMAN,F8W126_HUMAN	.	UPI0000351552	SNV	MCRS1,5_prime_UTR_variant,,ENST00000548334,;MCRS1,5_prime_UTR_variant,,ENST00000550165,;MCRS1,5_prime_UTR_variant,,ENST00000548596,;MCRS1,5_prime_UTR_variant,,ENST00000343810,;MCRS1,5_prime_UTR_variant,,ENST00000549528,;MCRS1,intron_variant,,ENST00000553173,;MCRS1,intron_variant,,ENST00000546244,;PRPF40B,upstream_gene_variant,,ENST00000551063,;MCRS1,upstream_gene_variant,,ENST00000357123,;PRPF40B,upstream_gene_variant,,ENST00000547764,;MCRS1,upstream_gene_variant,,ENST00000547182,;PRPF40B,upstream_gene_variant,,ENST00000552301,;MCRS1,non_coding_transcript_exon_variant,,ENST00000552206,;MCRS1,non_coding_transcript_exon_variant,,ENST00000551625,;MCRS1,non_coding_transcript_exon_variant,,ENST00000549000,;MCRS1,intron_variant,,ENST00000548602,;	.	32	33	SUCCESS
KRT1	3848	.	GRCh37	12	53071186	53071186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	67	0	ENST00000252244.3:c.1042G>T	p.Asp348Tyr	p.D348Y	ENST00000252244	NM_006121.3	348	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8836.1	1042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCCAGGT	NONE	.	.	hmmpanther:PTHR23239:SF95,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000252244	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,missense_variant,p.Asp348Tyr,ENST00000252244,;KRT1,non_coding_transcript_exon_variant,,ENST00000548765,;	1101	67	50	SUCCESS
RAB3IP	117177	.	GRCh37	12	70149324	70149324	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	35	99	0	ENST00000550536.1:c.184T>G	p.Ser62Ala	p.S62A	ENST00000550536	NM_175623.3	62	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS8993.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTTCAGCT	NONE	.	.	hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430	.	.	ENSP00000447300	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000550536	Transcript	.	.	ENSG00000127328	16508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious_low_confidence(0.04)	.	RAB3I_HUMAN	RAB3IP	HGNC	F8VNX9_HUMAN	.	UPI000006EB02	SNV	RAB3IP,missense_variant,p.Ser46Ala,ENST00000549760,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000483530,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000362025,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000247833,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000550536,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000378815,;RAB3IP,5_prime_UTR_variant,,ENST00000325555,;RAB3IP,upstream_gene_variant,,ENST00000550647,;RAB3IP,upstream_gene_variant,,ENST00000547055,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000552199,;RAB3IP,missense_variant,p.Ser62Ala,ENST00000378809,;RAB3IP,missense_variant,p.Ser46Ala,ENST00000417413,;RAB3IP,intron_variant,,ENST00000547591,;	641	99	97	SUCCESS
PTPRQ	374462	.	GRCh37	12	80933705	80933705	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	49	0	ENST00000266688.5:c.3124G>A	p.Val1042Ile	p.V1042I	ENST00000266688		1042	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	.	3124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGTATAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	25/50	.	.	.	.	.	.	.	.	.	25/50	nonpreferredpair	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.22)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Val1042Ile,ENST00000266688,;PTPRQ,downstream_gene_variant,,ENST00000547485,;PTPRQ,upstream_gene_variant,,ENST00000551624,;	3124	49	58	SUCCESS
TMPO	7112	.	GRCh37	12	98938066	98938066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	49	91	0	ENST00000556029.1:c.722G>A	p.Gly241Glu	p.G241E	ENST00000556029	NM_001032283.2	241	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	.	CCDS31879.1	722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGGACCTC	NONE	.	.	hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF3	.	.	ENSP00000450627	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000556029	Transcript	.	.	ENSG00000120802	11875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAP2B_HUMAN	TMPO	HGNC	Q9P1N8_HUMAN	.	UPI0000143267	SNV	TMPO,missense_variant,p.Gly241Glu,ENST00000556029,;TMPO,intron_variant,,ENST00000393053,;TMPO,intron_variant,,ENST00000343315,;TMPO,intron_variant,,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000548223,;TMPO,upstream_gene_variant,,ENST00000551987,;	1078	91	98	SUCCESS
ZMYM2	7750	.	GRCh37	13	20567272	20567272	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	68	1	ENST00000382871.2:c.60G>A	p.Gly20=	p.G20=	ENST00000382871		20	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45016.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGGAGTAC	NONE	.	.	.	.	.	ENSP00000372322	.	3/25	.	.	.	.	.	.	.	.	.	3/25	nonpreferredpair	ENST00000382869	Transcript	.	.	ENSG00000121741	12989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM2_HUMAN	ZMYM2	HGNC	.	.	UPI000013C318	SNV	ZMYM2,synonymous_variant,p.%3D,ENST00000382881,;ZMYM2,synonymous_variant,p.%3D,ENST00000382869,;ZMYM2,synonymous_variant,p.%3D,ENST00000382871,;ZMYM2,synonymous_variant,p.%3D,ENST00000382874,;	311	69	111	SUCCESS
ATP8A2	51761	.	GRCh37	13	25946367	25946367	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	12	0	ENST00000381655.2:c.17G>T	p.Gly6Val	p.G6V	ENST00000381655	NM_016529.4	6	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41873.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGCCTGG	NONE	.	.	.	.	.	ENSP00000371070	.	1/37	.	.	.	.	.	.	.	.	.	1/37	nonpreferredpair	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.24)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Gly6Val,ENST00000381655,;	159	12	19	SUCCESS
FARP1	10160	.	GRCh37	13	98896898	98896898	+	intron_variant	Intron	SNP	A	A	G	rs1292717826	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	61	0	ENST00000319562.6:c.171+31231A>G		p.*57*	ENST00000319562	NM_005766.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACACAAAC	NONE	.	.	.	.	.	ENSP00000322926	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	MODIFIER	2/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,missense_variant,p.Thr109Ala,ENST00000376581,;FARP1,intron_variant,,ENST00000319562,;FARP1,intron_variant,,ENST00000376586,;FARP1,intron_variant,,ENST00000595437,;FARP1,intron_variant,,ENST00000598389,;	.	61	51	SUCCESS
NOVA1	4857	.	GRCh37	14	26917704	26917704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	12	0	ENST00000539517.2:c.985C>A	p.Leu329Ile	p.L329I	ENST00000539517	NM_002515.2	329	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS32061.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGAGATTAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288	.	.	ENSP00000438875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.41)	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,missense_variant,p.Leu329Ile,ENST00000539517,;NOVA1,missense_variant,p.Leu305Ile,ENST00000465357,;NOVA1,missense_variant,p.Leu207Ile,ENST00000267422,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	1303	12	20	SUCCESS
TMEM260	54916	.	GRCh37	14	57070549	57070549	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	60	164	0	ENST00000261556.6:c.361G>A	p.Ala121Thr	p.A121T	ENST00000261556	NM_017799.3	121	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS9727.2	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTGCTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16214,Pfam_domain:PF11028	.	.	ENSP00000261556	.	4/16	.	.	.	.	.	.	.	.	.	4/16	nonpreferredpair	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	tolerated(0.06)	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,missense_variant,p.Ala121Thr,ENST00000261556,;TMEM260,missense_variant,p.Ala121Thr,ENST00000538838,;TMEM260,intron_variant,,ENST00000536419,;TMEM260,missense_variant,p.Ala121Thr,ENST00000539559,;TMEM260,5_prime_UTR_variant,,ENST00000556422,;TMEM260,non_coding_transcript_exon_variant,,ENST00000554981,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556079,;TMEM260,intron_variant,,ENST00000555497,;TMEM260,intron_variant,,ENST00000556929,;	483	164	159	SUCCESS
SYT16	83851	.	GRCh37	14	62550920	62550920	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	65	0	ENST00000430451.2:c.1441G>T	p.Gly481Trp	p.G481W	ENST00000430451	NM_031914.2	481	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS45121.1	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGGGTCT	NONE	.	.	hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024	.	.	ENSP00000394700	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.741)	.	deleterious(0)	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,missense_variant,p.Gly481Trp,ENST00000430451,;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	1638	66	63	SUCCESS
PPP2R5E	5529	.	GRCh37	14	63858560	63858560	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	112	0	ENST00000337537.3:c.929G>A	p.Trp310Ter	p.W310*	ENST00000337537	NM_006246.2	310	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS9758.1	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCCAAAAT	NONE	.	.	hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF5,Gene3D:1.25.10.10,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000337641	.	10/14	.	.	.	.	.	.	.	.	.	10/14	nonpreferredpair	ENST00000337537	Transcript	.	.	ENSG00000154001	9313	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2A5E_HUMAN	PPP2R5E	HGNC	J3KQN6_HUMAN	.	UPI0000124E94	SNV	PPP2R5E,stop_gained,p.Trp310Ter,ENST00000337537,;PPP2R5E,stop_gained,p.Trp234Ter,ENST00000422769,;PPP2R5E,stop_gained,p.Trp310Ter,ENST00000555899,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000553266,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556484,;PPP2R5E,intron_variant,,ENST00000556150,;	1532	113	78	SUCCESS
FAM161B	145483	.	GRCh37	14	74409115	74409115	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	64	174	1	ENST00000286544.3:c.1418A>T	p.His473Leu	p.H473L	ENST00000286544	NM_152445.2	473	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS9822.2	1418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGTGGCGC	NONE	.	.	hmmpanther:PTHR21501:SF4,hmmpanther:PTHR21501,Pfam_domain:PF10595	.	.	ENSP00000286544	.	4/9	.	.	.	.	.	.	.	.	.	4/9	nonpreferredpair	ENST00000286544	Transcript	.	.	ENSG00000156050	19854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.23)	.	F161B_HUMAN	FAM161B	HGNC	.	.	UPI000206535E	SNV	FAM161B,missense_variant,p.His473Leu,ENST00000286544,;FAM161B,missense_variant,p.His410Leu,ENST00000534936,;FAM161B,upstream_gene_variant,,ENST00000556794,;RP5-1021I20.5,upstream_gene_variant,,ENST00000555916,;	1617	176	162	SUCCESS
STON2	85439	.	GRCh37	14	81737182	81737182	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	40	0	ENST00000267540.2:c.2445T>G	p.Leu815=	p.L815=	ENST00000267540	NM_033104.3	815	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS58332.1	2445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCAAGGTG	NONE	.	.	Superfamily_domains:0038852,PIRSF_domain:PIRSF037099,Pfam_domain:PF00928,Gene3D:2.60.40.1170,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19,PROSITE_profiles:PS51072	.	.	ENSP00000450857	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000555447	Transcript	.	.	ENSG00000140022	30652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STON2_HUMAN	STON2	HGNC	G3V322_HUMAN	.	UPI00001FD96B	SNV	STON2,synonymous_variant,p.%3D,ENST00000267540,;STON2,synonymous_variant,p.%3D,ENST00000553821,;STON2,synonymous_variant,p.%3D,ENST00000555447,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	2858	40	31	SUCCESS
GALC	2581	.	GRCh37	14	88412059	88412059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	35	0	ENST00000261304.2:c.1508A>G	p.Glu503Gly	p.E503G	ENST00000261304	NM_000153.3	503	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS9878.2	1508	RADIA|VARSCANS	.	GAGCTTCACTA	NONE	.	.	Prints_domain:PR00850,Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1	.	.	ENSP00000261304	.	14/17	.	.	.	.	.	.	.	.	.	14/17	nonpreferredpair	ENST00000261304	Transcript	.	.	ENSG00000054983	4115	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GALC_HUMAN	GALC	HGNC	.	.	UPI00001FD982	SNV	GALC,missense_variant,p.Glu480Gly,ENST00000393568,;GALC,missense_variant,p.Glu447Gly,ENST00000544807,;GALC,missense_variant,p.Glu477Gly,ENST00000393569,;GALC,missense_variant,p.Glu503Gly,ENST00000261304,;GALC,missense_variant,p.Glu292Gly,ENST00000555000,;GALC,3_prime_UTR_variant,,ENST00000557316,;GALC,intron_variant,,ENST00000555179,;	1615	35	27	SUCCESS
RPS6KA5	9252	.	GRCh37	14	91338575	91338575	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	104	208	0	ENST00000261991.3:c.2252C>G	p.Thr751Ser	p.T751S	ENST00000261991	NM_004755.2	751	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS9893.1	2252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGGTGCTA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10	.	.	ENSP00000261991	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000261991	Transcript	.	.	ENSG00000100784	10434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.67)	.	KS6A5_HUMAN	RPS6KA5	HGNC	Q9UG98_HUMAN,B7Z2Y5_HUMAN	.	UPI0000031C30	SNV	RPS6KA5,missense_variant,p.Thr751Ser,ENST00000261991,;RPS6KA5,missense_variant,p.Thr672Ser,ENST00000536315,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;	2426	209	217	SUCCESS
DUOXA2	405753	.	GRCh37	15	45408389	45408389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	29	0	ENST00000323030.5:c.273C>A	p.Ser91Arg	p.S91R	ENST00000323030	NM_207581.3	91	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS10118.2	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGCGCAGC	NONE	.	.	Pfam_domain:PF10204,hmmpanther:PTHR31158:SF2,hmmpanther:PTHR31158	.	.	ENSP00000319705	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000323030	Transcript	1	.	ENSG00000140274	32698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DOXA2_HUMAN	DUOXA2	HGNC	.	.	UPI000049DDDD	SNV	DUOXA2,missense_variant,p.Ser91Arg,ENST00000323030,;DUOXA1,downstream_gene_variant,,ENST00000267803,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000560572,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOXA1,downstream_gene_variant,,ENST00000558422,;DUOXA1,downstream_gene_variant,,ENST00000559014,;DUOX2,upstream_gene_variant,,ENST00000603300,;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA1,downstream_gene_variant,,ENST00000430224,;DUOXA1,downstream_gene_variant,,ENST00000558996,;DUOXA2,3_prime_UTR_variant,,ENST00000491993,;DUOXA2,non_coding_transcript_exon_variant,,ENST00000350243,;DUOX2,upstream_gene_variant,,ENST00000558383,;DUOXA1,downstream_gene_variant,,ENST00000559013,;	558	29	36	SUCCESS
IGF1R	3480	.	GRCh37	15	99491869	99491869	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs45598038	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	26	0	ENST00000268035.6:c.3654C>G	p.Asn1218Lys	p.N1218K	ENST00000268035	NM_000875.3	1218	aaC/aaG	0	.	T:0	.	T:0	.	G	N/K	protein_coding	YES	CCDS10378.1	3654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACGAGCA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,PIRSF_domain:PIRSF000620,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	T:0.001	.	ENSP00000268035	T:0	20/21	.	.	.	.	.	.	.	.	rs45598038	20/21	nonpreferredpair	ENST00000268035	Transcript	1	T:0.0002	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	20625407	probably_damaging(0.99)	T:0	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Asn1217Lys,ENST00000558762,;IGF1R,missense_variant,p.Asn1218Lys,ENST00000268035,;IGF1R,upstream_gene_variant,,ENST00000558751,;	4265	26	27	SUCCESS
EIF3C	8663	.	GRCh37	16	28734840	28734840	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	46	242	1	ENST00000331666.6:c.1009del	p.Leu337TyrfsTer57	p.L337Yfs*57	ENST00000331666		336	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS10638.1	1008	INDELOCATOR|VARSCANI	.	TGAGATCCTACA	NONE	.	.	HAMAP:MF_03002,hmmpanther:PTHR13937,Pfam_domain:PF05470	.	.	ENSP00000332604	.	10/21	.	.	.	.	.	.	.	.	.	10/21	nonpreferredpair	ENST00000331666	Transcript	.	.	ENSG00000184110	3279	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3C_HUMAN	EIF3C	HGNC	H3BTY8_HUMAN,H3BPE4_HUMAN,H3BPE3_HUMAN,B4DVQ5_HUMAN,B3KNZ4_HUMAN	.	UPI000012D309	deletion	EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000566501,;EIF3C,frameshift_variant,p.Leu327TyrfsTer57,ENST00000564243,;EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000395587,;EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000331666,;EIF3C,frameshift_variant,p.Leu337TyrfsTer57,ENST00000566866,;EIF3C,downstream_gene_variant,,ENST00000565099,;EIF3C,non_coding_transcript_exon_variant,,ENST00000565932,;EIF3C,upstream_gene_variant,,ENST00000564839,;EIF3C,upstream_gene_variant,,ENST00000566519,;RP11-57A19.4,intron_variant,,ENST00000562217,;	1194	243	236	SUCCESS
SETD1A	9739	.	GRCh37	16	30977205	30977205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	94	0	ENST00000262519.8:c.2003G>T	p.Arg668Leu	p.R668L	ENST00000262519	NM_014712.1	668	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS32435.1	2003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGACTTG	NONE	.	.	hmmpanther:PTHR22884:SF295,hmmpanther:PTHR22884	.	.	ENSP00000262519	.	8/19	.	.	.	.	.	.	.	.	.	8/19	nonpreferredpair	ENST00000262519	Transcript	.	.	ENSG00000099381	29010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	.	.	SET1A_HUMAN	SETD1A	HGNC	C9J2Z9_HUMAN	.	UPI00001C1FA9	SNV	SETD1A,missense_variant,p.Arg668Leu,ENST00000262519,;SETD1A,downstream_gene_variant,,ENST00000452917,;	2689	94	100	SUCCESS
MT1G	4495	.	GRCh37	16	56701957	56701957	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	21	0	ENST00000379811.3:c.-52C>T		p.*18*	ENST00000379811				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10766.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGGTGCA	NONE	.	.	.	.	.	ENSP00000391397	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000444837	Transcript	.	.	ENSG00000125144	7399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT1G_HUMAN	MT1G	HGNC	.	.	UPI000012F6DA	SNV	MT1G,5_prime_UTR_variant,,ENST00000379811,;MT1G,5_prime_UTR_variant,,ENST00000444837,;MT1H,upstream_gene_variant,,ENST00000332374,;MT1H,upstream_gene_variant,,ENST00000569155,;MT1G,upstream_gene_variant,,ENST00000568675,;MT1G,upstream_gene_variant,,ENST00000569500,;	21	21	20	SUCCESS
NFE2L1	4779	.	GRCh37	17	46135846	46135846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	32	0	ENST00000362042.3:c.1162G>T	p.Ala388Ser	p.A388S	ENST00000362042	NM_003204.2	388	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS11524.1	1162	RADIA|VARSCANS	.	CTGTGGCCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411	.	.	ENSP00000354855	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000362042	Transcript	.	.	ENSG00000082641	7781	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.69)	.	NF2L1_HUMAN	NFE2L1	HGNC	Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN	.	UPI000012FFCF	SNV	NFE2L1,missense_variant,p.Ala232Ser,ENST00000536222,;NFE2L1,missense_variant,p.Ala388Ser,ENST00000362042,;NFE2L1,missense_variant,p.Ala358Ser,ENST00000357480,;NFE2L1,missense_variant,p.Ala358Ser,ENST00000585291,;NFE2L1,missense_variant,p.Ala200Ser,ENST00000582155,;NFE2L1,missense_variant,p.Ala189Ser,ENST00000583378,;NFE2L1,missense_variant,p.Ala377Ser,ENST00000361665,;NFE2L1,downstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000584634,;NFE2L1,downstream_gene_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000580037,;NFE2L1,downstream_gene_variant,,ENST00000577431,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;	1778	32	39	SUCCESS
DLX4	1748	.	GRCh37	17	48046980	48046980	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	22	0	ENST00000240306.3:c.148C>T	p.Pro50Ser	p.P50S	ENST00000240306	NM_138281.2	50	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS11555.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCCGTAT	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF30	.	.	ENSP00000240306	.	1/3	.	.	.	.	.	.	.	.	COSM1384130	1/3	nonpreferredpair	ENST00000240306	Transcript	.	.	ENSG00000108813	2917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.444)	.	tolerated(0.38)	1	DLX4_HUMAN	DLX4	HGNC	.	.	UPI0000070F94	SNV	DLX4,missense_variant,p.Pro50Ser,ENST00000240306,;DLX4,missense_variant,p.Pro50Ser,ENST00000505318,;DLX4,upstream_gene_variant,,ENST00000411890,;RNU6-1313P,upstream_gene_variant,,ENST00000362622,;DLX4,splice_region_variant,,ENST00000503410,;DLX4,upstream_gene_variant,,ENST00000503276,;	443	22	23	SUCCESS
CD300LF	146722	.	GRCh37	17	72700898	72700898	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs146550147	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	62	1	ENST00000326165.6:c.101G>T	p.Gly34Val	p.G34V	ENST00000326165	NM_139018.3	34	gGc/gTc	0	A:0.0002	.	.	.	.	A	G/V	protein_coding	YES	CCDS11704.1	101	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCCCCGC	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF43,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	A:0	ENSP00000327075	.	2/7	.	.	.	.	.	.	.	.	rs146550147	2/7	nonpreferredpair	ENST00000326165	Transcript	.	.	ENSG00000186074	29883	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CLM1_HUMAN	CD300LF	HGNC	.	.	UPI000013E729	SNV	CD300LF,missense_variant,p.Gly37Val,ENST00000343125,;CD300LF,missense_variant,p.Gly37Val,ENST00000581500,;CD300LF,missense_variant,p.Gly34Val,ENST00000301573,;CD300LF,missense_variant,p.Gly34Val,ENST00000326165,;CD300LF,missense_variant,p.Gly34Val,ENST00000583937,;CD300LF,missense_variant,p.Gly37Val,ENST00000361254,;CD300LF,missense_variant,p.Gly37Val,ENST00000469092,;CD300LF,missense_variant,p.Gly37Val,ENST00000464910,;RAB37,intron_variant,,ENST00000340415,;RAB37,intron_variant,,ENST00000402449,;CD300LF,missense_variant,p.Gly37Val,ENST00000462044,;CD300LF,non_coding_transcript_exon_variant,,ENST00000583544,;RAB37,intron_variant,,ENST00000392617,;	213	64	67	SUCCESS
DNAH2	146754	.	GRCh37	17	7734001	7734001	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	68	0	ENST00000389173.2:c.12071A>G	p.Tyr4024Cys	p.Y4024C	ENST00000389173	NM_020877.2	4024	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32551.1	12071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTATCTCG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF03028	.	.	ENSP00000458355	.	79/86	.	.	.	.	.	.	.	.	.	79/86	nonpreferredpair	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Tyr4024Cys,ENST00000389173,;DNAH2,missense_variant,p.Tyr4024Cys,ENST00000572933,;DNAH2,missense_variant,p.Tyr973Cys,ENST00000575105,;	13531	68	56	SUCCESS
CEP192	55125	.	GRCh37	18	13103583	13103583	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	41	0	ENST00000506447.1:c.6947T>C	p.Val2316Ala	p.V2316A	ENST00000506447	NM_032142.3	2316	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32792.2	6947	RADIA|MUTECT|VARSCANS	.	TTATGTCAAGG	NONE	.	.	hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029	.	.	ENSP00000427550	.	39/45	.	.	.	.	.	.	.	.	.	39/45	nonpreferredpair	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.93)	.	deleterious(0.01)	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,missense_variant,p.Val1720Ala,ENST00000325971,;CEP192,missense_variant,p.Val2316Ala,ENST00000506447,;CEP192,missense_variant,p.Val1841Ala,ENST00000430049,;CEP192,missense_variant,p.Val1855Ala,ENST00000511820,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,non_coding_transcript_exon_variant,,ENST00000508539,;CEP192,missense_variant,p.Val1916Ala,ENST00000510237,;CEP192,missense_variant,p.Val864Ala,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;	7027	41	35	SUCCESS
SLC25A52	147407	.	GRCh37	18	29339767	29339767	+	synonymous_variant	Silent	SNP	G	G	A	rs768083688	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	89	0	ENST00000579441.2:c.858C>T	p.Ile286=	p.I286=	ENST00000579441		286	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS32812.2	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGATTAT	NONE	byFrequency	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF253,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000372612	.	1/1	.	.	.	.	.	.	.	.	rs768083688	1/1	nonpreferredpair	ENST00000269205	Transcript	.	.	ENSG00000141437	23324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC25A52	HGNC	I3L0B8_HUMAN	.	UPI000016058E	SNV	SLC25A52,synonymous_variant,p.%3D,ENST00000579441,;SLC25A52,synonymous_variant,p.%3D,ENST00000269205,;	1077	89	109	SUCCESS
SERPINB13	5275	.	GRCh37	18	61255920	61255920	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139825462	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	60	83	0	ENST00000344731.5:c.19G>A	p.Val7Ile	p.V7I	ENST00000344731	NM_012397.3	7	Gtc/Atc	0	A:0.0007	.	.	.	.	A	V/I	protein_coding	YES	CCDS11985.1	19	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGTCAGC	SITE|p.V7I|c.19G>A|5	byCluster	.	hmmpanther:PTHR11461:SF152,hmmpanther:PTHR11461,Superfamily_domains:SSF56574	.	A:0	ENSP00000341584	.	2/8	.	.	.	.	.	.	.	.	rs139825462,COSM247259	2/8	nonpreferredpair	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	deleterious(0)	0,1	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,missense_variant,p.Val37Ile,ENST00000431153,;SERPINB13,missense_variant,p.Val7Ile,ENST00000344731,;SERPINB13,missense_variant,p.Val7Ile,ENST00000269489,;SERPINB13,upstream_gene_variant,,ENST00000415733,;SERPINB13,missense_variant,p.Val7Ile,ENST00000438844,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;	121	83	114	SUCCESS
NETO1	81832	.	GRCh37	18	70534616	70534616	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	32	0	ENST00000327305.6:c.-90T>C		p.*30*	ENST00000327305	NM_138966.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12000.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGAGGTGT	NONE	.	.	.	.	.	ENSP00000313088	.	1/11	.	.	.	.	.	.	.	.	.	1/11	nonpreferredpair	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,5_prime_UTR_variant,,ENST00000327305,;NETO1,5_prime_UTR_variant,,ENST00000583169,;NETO1,upstream_gene_variant,,ENST00000397929,;NETO1,upstream_gene_variant,,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000579169,;RP11-676J15.1,upstream_gene_variant,,ENST00000580564,;RP11-676J15.1,upstream_gene_variant,,ENST00000578967,;NETO1,upstream_gene_variant,,ENST00000580049,;NETO1,upstream_gene_variant,,ENST00000579730,;NETO1,downstream_gene_variant,,ENST00000577184,;	569	32	34	SUCCESS
SALL3	27164	.	GRCh37	18	76754127	76754127	+	synonymous_variant	Silent	SNP	C	C	T	rs1233975579	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	23	0	ENST00000537592.2:c.2136C>T	p.Cys712=	p.C712=	ENST00000537592	NM_171999.3	712	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS12013.1	2136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGCGGCCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,synonymous_variant,p.%3D,ENST00000536229,;SALL3,synonymous_variant,p.%3D,ENST00000537592,;SALL3,synonymous_variant,p.%3D,ENST00000575389,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	2136	23	20	SUCCESS
ICAM5	7087	.	GRCh37	19	10402010	10402010	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	38	0	ENST00000221980.4:c.345C>A	p.Arg115=	p.R115=	ENST00000221980	NM_003259.3	115	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12233.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCGCACTTT	NONE	.	.	hmmpanther:PTHR13771:SF6,hmmpanther:PTHR13771,Gene3D:2.60.40.10,Pfam_domain:PF03921,Superfamily_domains:SSF48726	.	.	ENSP00000221980	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000221980	Transcript	.	.	ENSG00000105376	5348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICAM5_HUMAN	ICAM5	HGNC	K7EIL3_HUMAN	.	UPI000013C7E4	SNV	ICAM5,synonymous_variant,p.%3D,ENST00000221980,;ICAM5,5_prime_UTR_variant,,ENST00000587398,;ICAM4,downstream_gene_variant,,ENST00000393717,;ICAM4,downstream_gene_variant,,ENST00000380770,;ICAM1,downstream_gene_variant,,ENST00000264832,;ICAM4,downstream_gene_variant,,ENST00000340992,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,intron_variant,,ENST00000586004,;ICAM5,upstream_gene_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	408	38	31	SUCCESS
ILF3	3609	.	GRCh37	19	10794397	10794397	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	16	0	ENST00000590261.1:c.1937G>T	p.Gly646Val	p.G646V	ENST00000590261		646	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS45965.1	1949	RADIA|SOMATICSNIPER	.	AGGCGGGAGCA	NONE	.	.	hmmpanther:PTHR10910:SF34,hmmpanther:PTHR10910,Low_complexity_(Seg):seg	.	.	ENSP00000404121	.	16/20	.	.	.	.	.	.	.	.	.	16/20	nonpreferredpair	ENST00000449870	Transcript	.	.	ENSG00000129351	6038	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.09)	.	ILF3_HUMAN	ILF3	HGNC	K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN	.	UPI000059D66A	SNV	ILF3,missense_variant,p.Gly646Val,ENST00000590261,;ILF3,missense_variant,p.Gly646Val,ENST00000318511,;ILF3,missense_variant,p.Gly646Val,ENST00000589998,;ILF3,missense_variant,p.Gly38Val,ENST00000593061,;ILF3,missense_variant,p.Gly650Val,ENST00000407004,;ILF3,missense_variant,p.Gly650Val,ENST00000592763,;ILF3,missense_variant,p.Gly646Val,ENST00000250241,;ILF3,missense_variant,p.Gly650Val,ENST00000588657,;ILF3,missense_variant,p.Gly646Val,ENST00000420083,;ILF3,missense_variant,p.Gly650Val,ENST00000449870,;ILF3,upstream_gene_variant,,ENST00000590869,;ILF3,downstream_gene_variant,,ENST00000590009,;ILF3,upstream_gene_variant,,ENST00000586544,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,downstream_gene_variant,,ENST00000589173,;ILF3,upstream_gene_variant,,ENST00000591649,;ILF3,downstream_gene_variant,,ENST00000585835,;ILF3,downstream_gene_variant,,ENST00000589052,;ILF3,downstream_gene_variant,,ENST00000587840,;ILF3,downstream_gene_variant,,ENST00000589416,;ILF3,downstream_gene_variant,,ENST00000589485,;ILF3,downstream_gene_variant,,ENST00000587505,;	2266	16	14	SUCCESS
HOOK2	29911	.	GRCh37	19	12886293	12886293	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs754486695	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	20	1	ENST00000397668.3:c.-30C>T		p.*10*	ENST00000397668	NM_013312.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42508.1	.	SOMATICSNIPER|VARSCANS	.	GCCACGGAGCC	NONE	.	.	.	.	.	ENSP00000380785	.	1/23	.	.	.	.	.	.	.	.	rs754486695	1/23	nonpreferredpair	ENST00000397668	Transcript	.	.	ENSG00000095066	19885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HOOK2_HUMAN	HOOK2	HGNC	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN	.	UPI00003D0BC0	SNV	HOOK2,5_prime_UTR_variant,,ENST00000587178,;HOOK2,5_prime_UTR_variant,,ENST00000397668,;HOOK2,5_prime_UTR_variant,,ENST00000264827,;HOOK2,intron_variant,,ENST00000589400,;HOOK2,intron_variant,,ENST00000592079,;HOOK2,intron_variant,,ENST00000590839,;HOOK2,upstream_gene_variant,,ENST00000588052,;HOOK2,upstream_gene_variant,,ENST00000587964,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589965,;HOOK2,intron_variant,,ENST00000589765,;HOOK2,non_coding_transcript_exon_variant,,ENST00000586284,;HOOK2,non_coding_transcript_exon_variant,,ENST00000592808,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589134,;HOOK2,intron_variant,,ENST00000586719,;HOOK2,intron_variant,,ENST00000592512,;HOOK2,intron_variant,,ENST00000591251,;HOOK2,intron_variant,,ENST00000591641,;HOOK2,intron_variant,,ENST00000593143,;HOOK2,upstream_gene_variant,,ENST00000586188,;	45	21	21	SUCCESS
CLEC17A	388512	.	GRCh37	19	14705334	14705334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	47	1	ENST00000417570.1:c.283A>T	p.Ser95Cys	p.S95C	ENST00000417570	NM_001204118.1	95	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS56087.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAAGTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22802:SF214,hmmpanther:PTHR22802	.	.	ENSP00000393719	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000417570	Transcript	.	.	ENSG00000187912	34520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated_low_confidence(0.18)	.	CL17A_HUMAN	CLEC17A	HGNC	.	.	UPI0001747A7C	SNV	CLEC17A,missense_variant,p.Ser78Cys,ENST00000397439,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000417570,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000547437,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000339847,;CLEC17A,missense_variant,p.Ser95Cys,ENST00000551730,;	321	48	63	SUCCESS
LINC00661	126536	.	GRCh37	19	16131404	16131404	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs994077250	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	37	0	ENST00000549354.2:n.235G>A		p.*79*	ENST00000549354				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGTAGCT	NONE	.	.	.	.	.	.	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000549354	Transcript	.	.	ENSG00000205396	27002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00661	HGNC	.	.	.	SNV	LINC00661,non_coding_transcript_exon_variant,,ENST00000549354,;LINC00661,non_coding_transcript_exon_variant,,ENST00000549718,;LINC00661,upstream_gene_variant,,ENST00000547102,;LINC00661,upstream_gene_variant,,ENST00000552685,;LINC00661,downstream_gene_variant,,ENST00000546512,;LINC00661,upstream_gene_variant,,ENST00000552608,;LINC00661,downstream_gene_variant,,ENST00000549131,;	235	37	24	SUCCESS
JAK3	3718	.	GRCh37	19	17950393	17950393	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777849274	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	19	0	ENST00000458235.1:c.1334G>A	p.Arg445Gln	p.R445Q	ENST00000458235	NM_000215.3	445	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12366.1	1334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTCGGCTG	NONE	byFrequency	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Gene3D:3.30.505.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000391676	.	10/24	.	.	.	.	.	.	.	.	rs777849274,COSM3822312,COSM3822311	10/24	nonpreferredpair	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.007)	.	tolerated(0.22)	0,1,1	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Arg445Gln,ENST00000458235,;JAK3,missense_variant,p.Arg445Gln,ENST00000534444,;JAK3,missense_variant,p.Arg445Gln,ENST00000527670,;JAK3,non_coding_transcript_exon_variant,,ENST00000526008,;JAK3,non_coding_transcript_exon_variant,,ENST00000528705,;JAK3,non_coding_transcript_exon_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528293,;	1434	19	17	SUCCESS
BTBD2	55643	.	GRCh37	19	1997425	1997425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	20	0	ENST00000255608.4:c.445A>G	p.Met149Val	p.M149V	ENST00000255608	NM_017797.3	149	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS12078.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATGGCAT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF16,PROSITE_profiles:PS50097	.	.	ENSP00000255608	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000255608	Transcript	.	.	ENSG00000133243	15504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.747)	.	deleterious(0)	.	BTBD2_HUMAN	BTBD2	HGNC	Q6NT96_HUMAN	.	UPI0000126B02	SNV	BTBD2,missense_variant,p.Met149Val,ENST00000255608,;BTBD2,upstream_gene_variant,,ENST00000587825,;BTBD2,non_coding_transcript_exon_variant,,ENST00000590646,;BTBD2,non_coding_transcript_exon_variant,,ENST00000588395,;BTBD2,non_coding_transcript_exon_variant,,ENST00000587742,;BTBD2,3_prime_UTR_variant,,ENST00000589200,;	462	20	23	SUCCESS
ZNF43	7594	.	GRCh37	19	21990784	21990784	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	12	0	ENST00000354959.4:c.2055A>G	p.Lys685=	p.K685=	ENST00000354959	NM_003423.3	685	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS12413.2	2055	RADIA|MUTECT|MUSE	.	AAAGCTTTGCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347045	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,synonymous_variant,p.%3D,ENST00000595461,;ZNF43,synonymous_variant,p.%3D,ENST00000354959,;ZNF43,synonymous_variant,p.%3D,ENST00000594012,;ZNF43,synonymous_variant,p.%3D,ENST00000598381,;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;	2225	12	12	SUCCESS
ZNF676	163223	.	GRCh37	19	22363944	22363944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	19	0	ENST00000397121.2:c.575C>A	p.Thr192Asn	p.T192N	ENST00000397121	NM_001001411.2	192	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS42539.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGTATGA	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,PROSITE_profiles:PS50157	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0.03)	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,missense_variant,p.Thr192Asn,ENST00000397121,;	893	19	50	SUCCESS
HIPK4	147746	.	GRCh37	19	40895613	40895613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	74	0	ENST00000291823.2:c.197A>G	p.Asp66Gly	p.D66G	ENST00000291823	NM_144685.3	66	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS12555.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTCTAGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF46,PROSITE_profiles:PS50011	.	.	ENSP00000291823	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000291823	Transcript	.	.	ENSG00000160396	19007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.01)	.	HIPK4_HUMAN	HIPK4	HGNC	B4DWX2_HUMAN	.	UPI000006DCD3	SNV	HIPK4,missense_variant,p.Asp66Gly,ENST00000291823,;PRX,downstream_gene_variant,,ENST00000324001,;PRX,downstream_gene_variant,,ENST00000291825,;	482	74	62	SUCCESS
ATP1A3	478	.	GRCh37	19	42492480	42492480	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	26	0	ENST00000302102.5:c.143A>G	p.Asp48Gly	p.D48G	ENST00000302102	NM_152296.4	48	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS58664.1	182	RADIA|VARSCANS	.	CACAGTCTGTG	NONE	.	.	Superfamily_domains:0049473,SMART_domains:SM00831,Gene3D:2.70.150.10,Pfam_domain:PF00690,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093:SF259,hmmpanther:PTHR24093	.	.	ENSP00000444688	.	3/23	.	.	.	.	.	.	.	.	.	3/23	nonpreferredpair	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,missense_variant,p.Asp18Gly,ENST00000602133,;ATP1A3,missense_variant,p.Asp59Gly,ENST00000543770,;ATP1A3,missense_variant,p.Asp61Gly,ENST00000545399,;ATP1A3,missense_variant,p.Asp18Gly,ENST00000473086,;ATP1A3,missense_variant,p.Asp48Gly,ENST00000302102,;ATP1A3,non_coding_transcript_exon_variant,,ENST00000468774,;ATP1A3,non_coding_transcript_exon_variant,,ENST00000465007,;ATP1A3,missense_variant,p.Asp48Gly,ENST00000441343,;ATP1A3,upstream_gene_variant,,ENST00000485672,;	336	26	36	SUCCESS
CGB7	94027	.	GRCh37	19	49558233	49558233	+	synonymous_variant	Silent	SNP	G	G	A	rs370423985	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	23	0	ENST00000597853.1:c.48C>T	p.Gly16=	p.G16=	ENST00000597853		16	ggC/ggT	0	A:0.0003	A:0.0045	.	A:0	.	A	G	protein_coding	YES	CCDS33071.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGCCCAT	BUFFER|p.T18A|c.52A>G|5	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12	A:0	A:0	ENSP00000470813	A:0	4/5	.	.	.	.	.	.	.	.	rs370423985,COSM418126	4/5	nonpreferredpair	ENST00000597853	Transcript	.	A:0.0012	ENSG00000196337	16451	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	CGHB_HUMAN	CGB7	HGNC	J3KP00_HUMAN	.	UPI00001619C1	SNV	CGB7,synonymous_variant,p.%3D,ENST00000377280,;CGB7,synonymous_variant,p.%3D,ENST00000597853,;CGB7,synonymous_variant,p.%3D,ENST00000596965,;CGB7,synonymous_variant,p.%3D,ENST00000356213,;NTF4,downstream_gene_variant,,ENST00000451356,;CGB7,downstream_gene_variant,,ENST00000598442,;CGB7,downstream_gene_variant,,ENST00000593309,;NTF4,downstream_gene_variant,,ENST00000599795,;CTB-60B18.15,upstream_gene_variant,,ENST00000596318,;	2920	23	18	SUCCESS
KCNA7	3743	.	GRCh37	19	49573841	49573841	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs546430763	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	32	0	ENST00000221444.1:c.850C>T	p.Arg284Cys	p.R284C	ENST00000221444	NM_031886.2	284	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12755.1	850	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGCACCA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000221444	.	2/2	.	.	.	.	.	.	.	.	rs546430763	2/2	nonpreferredpair	ENST00000221444	Transcript	.	.	ENSG00000104848	6226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNA7_HUMAN	KCNA7	HGNC	.	.	UPI000004F638	SNV	KCNA7,missense_variant,p.Arg284Cys,ENST00000221444,;	1206	32	27	SUCCESS
TBC1D17	79735	.	GRCh37	19	50387721	50387721	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758641196	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	68	0	ENST00000221543.5:c.1249G>A	p.Val417Ile	p.V417I	ENST00000221543	NM_024682.2	417	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS12785.1	1249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACGTCCAG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF228,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000221543	.	12/17	.	.	.	.	.	.	.	.	rs758641196,COSM999493	12/17	nonpreferredpair	ENST00000221543	Transcript	.	.	ENSG00000104946	25699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	0,1	TBC17_HUMAN	TBC1D17	HGNC	Q96RQ7_HUMAN	.	UPI000013C7D2	SNV	TBC1D17,missense_variant,p.Val396Ile,ENST00000599049,;TBC1D17,missense_variant,p.Val384Ile,ENST00000535102,;TBC1D17,missense_variant,p.Val417Ile,ENST00000221543,;MIR4750,upstream_gene_variant,,ENST00000584564,;TBC1D17,downstream_gene_variant,,ENST00000598789,;TBC1D17,missense_variant,p.Val196Ile,ENST00000594984,;TBC1D17,non_coding_transcript_exon_variant,,ENST00000596243,;TBC1D17,upstream_gene_variant,,ENST00000600354,;TBC1D17,downstream_gene_variant,,ENST00000594996,;	1548	68	78	SUCCESS
ZSCAN5A	79149	.	GRCh37	19	56735066	56735066	+	synonymous_variant	Silent	SNP	T	T	C	rs199886337	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	25	0	ENST00000391713.1:c.522A>G	p.Pro174=	p.P174=	ENST00000391713	NM_024303.1	174	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS12941.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGGACG	NONE	.	.	hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032	.	.	ENSP00000467631	.	5/7	.	.	.	.	.	.	.	.	rs199886337	5/7	nonpreferredpair	ENST00000587340	Transcript	.	.	ENSG00000131848	23710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSA5A_HUMAN	ZSCAN5A	HGNC	K7ESN6_HUMAN,K7ESE4_HUMAN,K7EQW6_HUMAN,K7EN85_HUMAN,K7EMC4_HUMAN,K7EIX9_HUMAN	.	UPI0000072024	SNV	ZSCAN5A,synonymous_variant,p.%3D,ENST00000587492,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000593106,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000592355,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000587340,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000391713,;ZSCAN5A,synonymous_variant,p.%3D,ENST00000254165,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;	1218	26	28	SUCCESS
ZNF71	58491	.	GRCh37	19	57133787	57133787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	78	0	ENST00000328070.6:c.1132G>T	p.Gly378Cys	p.G378C	ENST00000328070	NM_021216.4	378	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS12947.1	1132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGGCGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,missense_variant,p.Gly378Cys,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	1366	78	71	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576688	158576688	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	41	136	0	ENST00000361284.1:c.460C>T	p.Leu154Phe	p.L154F	ENST00000361284	NM_001004478.1	154	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS30901.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACCTCTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.1)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Leu154Phe,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	460	136	159	SUCCESS
SPTA1	6708	.	GRCh37	1	158605719	158605719	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	49	37	0	ENST00000368147.4:c.5416G>C	p.Glu1806Gln	p.E1806Q	ENST00000368147	NM_003126.2	1806	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS41423.1	5416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTCTTTGA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	38/52	.	.	.	.	.	.	.	.	.	38/52	nonpreferredpair	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	tolerated(0.64)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu1806Gln,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	5597	37	61	SUCCESS
OR6K2	81448	.	GRCh37	1	158670099	158670099	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752182709	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	52	74	0	ENST00000359610.2:c.344C>G	p.Thr115Arg	p.T115R	ENST00000359610	NM_001005279.1	115	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS30902.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACTGTCAAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	rs752182709	1/1	nonpreferredpair	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,missense_variant,p.Thr115Arg,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	388	74	94	SUCCESS
CASQ1	844	.	GRCh37	1	160165795	160165795	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	45	0	ENST00000368078.3:c.760A>G	p.Asn254Asp	p.N254D	ENST00000368078		254	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1198.2	760	RADIA|VARSCANS	.	TTGTCAACTTC	NONE	.	.	hmmpanther:PTHR10033:SF9,hmmpanther:PTHR10033,Pfam_domain:PF01216,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00312	.	.	ENSP00000357057	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000368078	Transcript	.	.	ENSG00000143318	1512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.5)	.	CASQ1_HUMAN	CASQ1	HGNC	C9JAC8_HUMAN	.	UPI0000204B81	SNV	CASQ1,missense_variant,p.Asn248Asp,ENST00000368079,;CASQ1,missense_variant,p.Asn254Asp,ENST00000368078,;CASQ1,upstream_gene_variant,,ENST00000467691,;CASQ1,non_coding_transcript_exon_variant,,ENST00000481081,;	956	45	41	SUCCESS
DCAF6	55827	.	GRCh37	1	167971772	167971772	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	62	148	0	ENST00000312263.6:c.956C>T	p.Thr319Ile	p.T319I	ENST00000312263	NM_001017977.2	319	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS55657.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATACTGGAC	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11	.	.	ENSP00000356814	.	8/22	.	.	.	.	.	.	.	.	.	8/22	nonpreferredpair	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,missense_variant,p.Thr288Ile,ENST00000432587,;DCAF6,missense_variant,p.Thr319Ile,ENST00000367840,;DCAF6,missense_variant,p.Thr319Ile,ENST00000312263,;DCAF6,missense_variant,p.Thr319Ile,ENST00000367843,;MIR1255B2,downstream_gene_variant,,ENST00000408618,;DCAF6,missense_variant,p.Thr319Ile,ENST00000470721,;	1050	148	211	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182873386	182873386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	64	0	ENST00000367547.3:c.1516G>A	p.Glu506Lys	p.E506K	ENST00000367547	NM_030933.2	506	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS30955.1	1516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCACATT	NONE	.	.	hmmpanther:PTHR14695:SF7,hmmpanther:PTHR14695,Pfam_domain:PF13229,Gene3D:2.160.20.10,SMART_domains:SM00722,SMART_domains:SM00710,Superfamily_domains:SSF51126	.	.	ENSP00000356518	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000367547	Transcript	.	.	ENSG00000157060	16788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	deleterious(0.01)	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	SNV	SHCBP1L,missense_variant,p.Glu387Lys,ENST00000423786,;SHCBP1L,missense_variant,p.Glu506Lys,ENST00000367547,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;	1753	64	97	SUCCESS
HMCN1	83872	.	GRCh37	1	186097385	186097385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	37	0	ENST00000271588.4:c.12866C>T	p.Pro4289Leu	p.P4289L	ENST00000271588	NM_031935.2	4289	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS30956.1	12866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCCAAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	83/107	.	.	.	.	.	.	.	.	.	83/107	nonpreferredpair	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Pro4289Leu,ENST00000367492,;HMCN1,missense_variant,p.Pro4289Leu,ENST00000271588,;	13095	37	52	SUCCESS
MAPKAPK2	9261	.	GRCh37	1	206902164	206902166	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	GGA	GGA	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	37	0	ENST00000367103.3:c.392_394del	p.Arg131del	p.R131del	ENST00000367103	NM_004759.4	130	gGGAgg/ggg	0	.	.	.	.	.	-	GR/G	protein_coding	YES	CCDS31001.1	389-391	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGCAGGGAGGAAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF63,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356070	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000367103	Transcript	.	.	ENSG00000162889	6887	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAPK2_HUMAN	MAPKAPK2	HGNC	.	.	UPI0000112289	deletion	MAPKAPK2,inframe_deletion,p.Arg131del,ENST00000294981,;MAPKAPK2,inframe_deletion,p.Arg131del,ENST00000367103,;MAPKAPK2,upstream_gene_variant,,ENST00000479009,;MAPKAPK2,upstream_gene_variant,,ENST00000493447,;	582-584	37	43	SUCCESS
OR2T27	403239	.	GRCh37	1	248814007	248814007	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	19	99	0	ENST00000344889.3:c.179A>T	p.Tyr60Phe	p.Y60F	ENST00000344889	NM_001001824.1	60	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS31124.1	179	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTACATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000344889	Transcript	.	.	ENSG00000187701	31252	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	.	O2T27_HUMAN	OR2T27	HGNC	.	.	UPI000004F239	SNV	OR2T27,missense_variant,p.Tyr60Phe,ENST00000344889,;	179	100	152	SUCCESS
EEF1A2	1917	.	GRCh37	20	62122018	62122018	+	synonymous_variant	Silent	SNP	C	C	A	rs139282309	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	12	0	ENST00000217182.3:c.843G>T	p.Ala281=	p.A281=	ENST00000217182	NM_001958.3	281	gcG/gcT	0	T:0.0002	T:0.0008	.	T:0	.	A	A	protein_coding	YES	CCDS13522.1	843	RADIA|SOMATICSNIPER|MUSE	.	ACTGGCGCAAA	NONE	byCluster|by1000G	.	HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03144,Superfamily_domains:SSF50447	T:0	T:0	ENSP00000217182	T:0	6/8	.	.	.	.	.	.	.	.	rs139282309	6/8	nonpreferredpair	ENST00000217182	Transcript	1	T:0.0002	ENSG00000101210	3192	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	EF1A2_HUMAN	EEF1A2	HGNC	.	.	UPI0000000136	SNV	EEF1A2,synonymous_variant,p.%3D,ENST00000298049,;EEF1A2,synonymous_variant,p.%3D,ENST00000217182,;	1009	12	16	SUCCESS
BAGE2	85319	.	GRCh37	21	11039320	11039320	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	18	201	0	ENST00000470054.1:n.884G>A		p.*295*	ENST00000470054				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	ACTTCCATTTT	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	884	202	217	SUCCESS
PRDM15	63977	.	GRCh37	21	43291640	43291640	+	synonymous_variant	Silent	SNP	C	C	T	rs376979380	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	31	0	ENST00000269844.3:c.504G>A	p.Ala168=	p.A168=	ENST00000269844	NM_022115.3	168	gcG/gcA	0	T:0.0002	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS13676.1	504	RADIA|VARSCANS	.	GCACTCGCAGG	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000269844	T:0	4/31	.	.	.	.	.	.	.	.	rs376979380	4/31	nonpreferredpair	ENST00000269844	Transcript	.	T:0.0002	ENSG00000141956	13999	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,synonymous_variant,p.%3D,ENST00000269844,;PRDM15,intron_variant,,ENST00000422911,;PRDM15,intron_variant,,ENST00000398548,;PRDM15,intron_variant,,ENST00000538201,;AP001619.3,intron_variant,,ENST00000458654,;AP001619.2,downstream_gene_variant,,ENST00000432411,;PRDM15,synonymous_variant,p.%3D,ENST00000433067,;PRDM15,intron_variant,,ENST00000449395,;PRDM15,intron_variant,,ENST00000441787,;	615	31	37	SUCCESS
SCARF2	91179	.	GRCh37	22	20784723	20784723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1171784827	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	13	0	ENST00000266214.5:c.1195G>A	p.Gly399Arg	p.G399R	ENST00000266214	NM_153334.4	399	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS13779.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCGTGGA	NONE	.	.	hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,PROSITE_patterns:PS00022,SMART_domains:SM00180,SMART_domains:SM00181,Prints_domain:PR00011	.	.	ENSP00000266214	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000266214	Transcript	.	.	ENSG00000244486	19869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SREC2_HUMAN	SCARF2	HGNC	.	.	UPI0000135F1C	SNV	SCARF2,missense_variant,p.Gly399Arg,ENST00000405555,;SCARF2,missense_variant,p.Gly399Arg,ENST00000266214,;KLHL22,3_prime_UTR_variant,,ENST00000429594,;SCARF2,upstream_gene_variant,,ENST00000494535,;	1300	13	19	SUCCESS
GAS2L1	10634	.	GRCh37	22	29704470	29704470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	28	0	ENST00000341313.6:c.375G>T	p.Glu125Asp	p.E125D	ENST00000341313		125	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	.	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAGGACCT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR25069:SF123,hmmpanther:PTHR25069,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000344012	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.45)	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,missense_variant,p.Glu125Asp,ENST00000341313,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000416823,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000403764,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000407854,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000471961,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000360113,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000428622,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000407647,;GAS2L1,missense_variant,p.Glu125Asp,ENST00000406549,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,;GAS2L1,downstream_gene_variant,,ENST00000487341,;GAS2L1,upstream_gene_variant,,ENST00000491016,;	507	28	16	SUCCESS
TRIOBP	11078	.	GRCh37	22	38120914	38120914	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768806208	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	63	132	1	ENST00000406386.3:c.2351A>G	p.Asn784Ser	p.N784S	ENST00000406386	NM_001039141.2	784	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43015.1	2351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAATAGAG	NONE	byFrequency	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271	.	.	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs768806208	7/24	nonpreferredpair	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.12)	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,missense_variant,p.Asn784Ser,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	2606	133	122	SUCCESS
EP300	2033	.	GRCh37	22	41560092	41560092	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	94	206	0	ENST00000263253.7:c.3764A>T	p.His1255Leu	p.H1255L	ENST00000263253	NM_001429.3	1255	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS14010.1	3764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCATCAGA	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	22/31	.	.	.	.	.	.	.	.	.	22/31	nonpreferredpair	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.His1255Leu,ENST00000263253,;RNU6-375P,upstream_gene_variant,,ENST00000517050,;	4983	206	203	SUCCESS
CPT1B	1375	.	GRCh37	22	51010728	51010728	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	46	0	ENST00000312108.7:c.1362C>G	p.Asp454Glu	p.D454E	ENST00000312108	NM_152246.2	454	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS14098.1	1362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGTCAAA	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF58,PROSITE_patterns:PS00440,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000353945	.	12/19	.	.	.	.	.	.	.	.	.	12/19	nonpreferredpair	ENST00000360719	Transcript	.	.	ENSG00000205560	2329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CPT1B_HUMAN	CPT1B	HGNC	C9J7C3_HUMAN	.	UPI0000128314	SNV	CPT1B,missense_variant,p.Asp454Glu,ENST00000312108,;CPT1B,missense_variant,p.Asp454Glu,ENST00000360719,;CPT1B,missense_variant,p.Asp454Glu,ENST00000395650,;CPT1B,missense_variant,p.Asp251Glu,ENST00000434492,;CPT1B,missense_variant,p.Asp420Glu,ENST00000457250,;CPT1B,missense_variant,p.Asp454Glu,ENST00000405237,;CPT1B,missense_variant,p.Asp373Glu,ENST00000440709,;CPT1B,downstream_gene_variant,,ENST00000417176,;CHKB-CPT1B,3_prime_UTR_variant,,ENST00000453634,;CHKB-CPT1B,non_coding_transcript_exon_variant,,ENST00000492556,;CPT1B,non_coding_transcript_exon_variant,,ENST00000475238,;CPT1B,downstream_gene_variant,,ENST00000476790,;CPT1B,downstream_gene_variant,,ENST00000479886,;CPT1B,downstream_gene_variant,,ENST00000460853,;CPT1B,upstream_gene_variant,,ENST00000497224,;CPT1B,downstream_gene_variant,,ENST00000461117,;CPT1B,downstream_gene_variant,,ENST00000423069,;	1500	46	33	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105889372	105889372	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	53	0	ENST00000258449.1:c.1912C>A	p.Gln638Lys	p.Q638K	ENST00000258449	NM_001142621.1	638	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS2067.1	1912	RADIA|VARSCANS	.	GGCCTGCGTCT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00637	.	.	ENSP00000377027	.	10/12	.	.	.	.	.	.	.	.	.	10/12	nonpreferredpair,oxog	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.05)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.Gln638Lys,ENST00000393359,;TGFBRAP1,missense_variant,p.Gln638Lys,ENST00000258449,;	2339	53	37	SUCCESS
XIRP2	129446	.	GRCh37	2	168100450	168100450	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	49	108	0	ENST00000409195.1:c.2548T>C	p.Leu850=	p.L850=	ENST00000409195	NM_152381.5	850	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42769.1	2548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCATTAGAC	NONE	.	.	Pfam_domain:PF08043,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,PROSITE_profiles:PS51389	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	nonpreferredpair	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2637	108	126	SUCCESS
XIRP2	129446	.	GRCh37	2	168104420	168104420	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375925351	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	49	90	0	ENST00000409195.1:c.6518G>T	p.Gly2173Val	p.G2173V	ENST00000409195	NM_152381.5	2173	gGa/gTa	0	C:0	.	.	.	.	T	G/V	protein_coding	YES	CCDS42769.1	6518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGAGGAA	NONE	byCluster	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	C:0.0001	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs375925351	9/11	nonpreferredpair	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Gly1951Val,ENST00000409273,;XIRP2,missense_variant,p.Gly2173Val,ENST00000409195,;XIRP2,missense_variant,p.Gly2173Val,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	6607	91	102	SUCCESS
OSBPL6	114880	.	GRCh37	2	179253802	179253802	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	56	0	ENST00000190611.4:c.2223A>G	p.Arg741=	p.R741=	ENST00000190611	NM_032523.3	741	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS56150.1	2298	RADIA|VARSCANS	.	AGAAGATGGAT	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972	.	.	ENSP00000376293	.	22/26	.	.	.	.	.	.	.	.	.	22/26	nonpreferredpair	ENST00000392505	Transcript	.	.	ENSG00000079156	16388	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSBL6_HUMAN	OSBPL6	HGNC	.	.	UPI0000E5A29F	SNV	OSBPL6,synonymous_variant,p.%3D,ENST00000409631,;OSBPL6,synonymous_variant,p.%3D,ENST00000409045,;OSBPL6,synonymous_variant,p.%3D,ENST00000315022,;OSBPL6,synonymous_variant,p.%3D,ENST00000359685,;OSBPL6,synonymous_variant,p.%3D,ENST00000392505,;OSBPL6,synonymous_variant,p.%3D,ENST00000190611,;	2842	56	32	SUCCESS
TTN	7273	.	GRCh37	2	179560596	179560596	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	75	174	0	ENST00000591111.1:c.30252T>C	p.Tyr10084=	p.Y10084=	ENST00000591111		10084	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS59435.1	31203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCATAGAC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	114/363	.	.	.	.	.	.	.	.	.	114/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000414766,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31428	174	171	SUCCESS
SF3B1	23451	.	GRCh37	2	198267360	198267360	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs374250186	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	51	120	0	ENST00000335508.6:c.1997A>C	p.Lys666Thr	p.K666T	ENST00000335508	NM_012433.2	666	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33356.1	1997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTTAATA	SITE|p.K666T|c.1997A>C|13,CODON|p.K666N|c.1998G>T|17,CODON|p.K666N|c.1998G>C|13,CODON|p.K666R|c.1997A>G|9,CODON|p.K666M|c.1997A>T|8,BUFFER|p.K666E|c.1996A>G|17,BUFFER|p.K666Q|c.1996A>C|3,BUFFER|p.T663I|c.1988C>T|5,BUFFER|p.H662Q|c.1986C>G|20,BUFFER|p.H662Q|c.1986C>A|9	.	.	hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	14/25	.	.	.	.	.	.	.	.	COSM110698,COSM131553,COSM131556	14/25	nonpreferredpair	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.994)	.	deleterious(0)	1,1,1	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Lys666Thr,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	2089	120	113	SUCCESS
TRAK2	66008	.	GRCh37	2	202245315	202245315	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1337299999	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	87	0	ENST00000332624.3:c.2696C>T	p.Ala899Val	p.A899V	ENST00000332624	NM_015049.2	899	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2347.1	2696	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGCAGCA	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	16/16	.	.	.	.	.	.	.	.	.	16/16	nonpreferredpair	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.07)	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,missense_variant,p.Ala899Val,ENST00000332624,;	3125	87	89	SUCCESS
TRAK2	66008	.	GRCh37	2	202245316	202245316	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	89	0	ENST00000332624.3:c.2695G>C	p.Ala899Pro	p.A899P	ENST00000332624	NM_015049.2	899	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS2347.1	2695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCAGCAA	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	16/16	.	.	.	.	.	.	.	.	.	16/16	nonpreferredpair	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.09)	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,missense_variant,p.Ala899Pro,ENST00000332624,;	3124	89	90	SUCCESS
SNED1	25992	.	GRCh37	2	242003530	242003530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	48	0	ENST00000310397.8:c.2587C>A	p.His863Asn	p.H863N	ENST00000310397	NM_001080437.1	863	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS46562.1	2587	MUTECT|VARSCANS	.	GCTACCACTGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000308893	.	19/32	.	.	.	.	.	.	.	.	.	19/32	nonpreferredpair	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.075)	.	tolerated(0.07)	.	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,missense_variant,p.His863Asn,ENST00000405547,;SNED1,missense_variant,p.His863Asn,ENST00000342631,;SNED1,missense_variant,p.His863Asn,ENST00000310397,;SNED1,missense_variant,p.His863Asn,ENST00000401884,;AC005237.4,non_coding_transcript_exon_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000466618,;	2587	48	37	SUCCESS
IFT172	26160	.	GRCh37	2	27688641	27688641	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	38	0	ENST00000260570.3:c.1801A>C	p.Thr601Pro	p.T601P	ENST00000260570	NM_015662.1	601	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS1755.1	1801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGTTCCAA	NONE	.	.	hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	.	.	ENSP00000260570	.	17/48	.	.	.	.	.	.	.	.	.	17/48	nonpreferredpair	ENST00000260570	Transcript	.	.	ENSG00000138002	30391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	deleterious(0)	.	IF172_HUMAN	IFT172	HGNC	H7C161_HUMAN	.	UPI0000353ABB	SNV	IFT172,missense_variant,p.Thr601Pro,ENST00000260570,;IFT172,non_coding_transcript_exon_variant,,ENST00000489492,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;	1905	38	58	SUCCESS
ABCG8	64241	.	GRCh37	2	44099245	44099245	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	60	0	ENST00000272286.2:c.1095G>T	p.Thr365=	p.T365=	ENST00000272286	NM_022437.2	365	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1815.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGAAGGA	NONE	.	.	hmmpanther:PTHR19241	.	.	ENSP00000272286	.	7/13	.	.	.	.	.	.	.	.	COSM3581760	7/13	nonpreferredpair	ENST00000272286	Transcript	.	.	ENSG00000143921	13887	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ABCG8_HUMAN	ABCG8	HGNC	Q96A01_HUMAN	.	UPI000004C4CD	SNV	ABCG8,synonymous_variant,p.%3D,ENST00000272286,;	1185	60	72	SUCCESS
ST3GAL5	8869	.	GRCh37	2	86080208	86080208	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	25	0	ENST00000377332.3:c.319-4881T>A		p.*107*	ENST00000377332	NM_003896.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1986.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGATAAGG	NONE	.	.	.	.	.	ENSP00000366549	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000377332	Transcript	.	.	ENSG00000115525	10872	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAT9_HUMAN	ST3GAL5	HGNC	C9JYS9_HUMAN	.	UPI000015F319	SNV	ST3GAL5,missense_variant,p.Ser109Thr,ENST00000525834,;ST3GAL5,intron_variant,,ENST00000393805,;ST3GAL5,intron_variant,,ENST00000455892,;ST3GAL5,intron_variant,,ENST00000377332,;ST3GAL5,intron_variant,,ENST00000393808,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461199,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000487896,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461892,;ST3GAL5,intron_variant,,ENST00000473122,;ST3GAL5,intron_variant,,ENST00000306262,;ST3GAL5,intron_variant,,ENST00000433665,;ST3GAL5,upstream_gene_variant,,ENST00000461206,;	.	25	28	SUCCESS
FER1L5	90342	.	GRCh37	2	97359397	97359397	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	32	0	ENST00000414152.1:n.3528G>A		p.*1176*	ENST00000414152				0	.	.	.	.	.	A	.	retained_intron	.	.	.	SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGCTGGA	NONE	.	.	.	.	.	.	.	15/35	.	.	.	.	.	.	.	.	.	15/35	nonpreferredpair	ENST00000457909	Transcript	.	.	ENSG00000249715	19044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FER1L5	HGNC	.	.	.	SNV	FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;FER1L5,upstream_gene_variant,,ENST00000397978,;	1906	32	23	SUCCESS
HACL1	26061	.	GRCh37	3	15604875	15604875	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs149555880	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	117	284	0	ENST00000321169.5:c.1694G>C	p.Arg565Pro	p.R565P	ENST00000321169	NM_012260.2	565	cGg/cCg	0	T:0.0002	.	.	.	.	G	R/P	protein_coding	YES	CCDS2627.1	1694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCGTGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18968:SF6,hmmpanther:PTHR18968,Gene3D:3.40.50.970,Superfamily_domains:SSF52518	.	T:0.0005	ENSP00000323811	.	16/17	.	.	.	.	.	.	.	.	rs149555880	16/17	nonpreferredpair	ENST00000321169	Transcript	.	.	ENSG00000131373	17856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	HACL1_HUMAN	HACL1	HGNC	.	.	UPI000012CB25	SNV	HACL1,missense_variant,p.Arg505Pro,ENST00000457447,;HACL1,missense_variant,p.Arg538Pro,ENST00000456194,;HACL1,missense_variant,p.Arg324Pro,ENST00000435217,;HACL1,missense_variant,p.Arg483Pro,ENST00000451445,;HACL1,missense_variant,p.Arg565Pro,ENST00000321169,;HACL1,3_prime_UTR_variant,,ENST00000422591,;HACL1,3_prime_UTR_variant,,ENST00000383779,;	2062	285	235	SUCCESS
KCNH8	131096	.	GRCh37	3	19554731	19554731	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	104	0	ENST00000328405.2:c.2349C>T	p.Pro783=	p.P783=	ENST00000328405	NM_144633.2	783	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2632.1	2349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCCCCAA	BUFFER|p.D782N|c.2344G>A|3	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	.	ENSP00000328813	.	13/16	.	.	.	.	.	.	.	.	.	13/16	nonpreferredpair	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,synonymous_variant,p.%3D,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	2615	104	90	SUCCESS
KIAA0226	0	.	GRCh37	3	197403762	197403762	+	synonymous_variant	Silent	SNP	T	T	C	rs1430895441	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	23	0	ENST00000296343.5:c.2640A>G	p.Arg880=	p.R880=	ENST00000296343	NM_014687.1	880	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS43195.1	2640	RADIA|VARSCANS	.	ATGCATCTCTC	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7,Pfam_domain:PF13901	.	.	ENSP00000296343	.	18/20	.	.	.	.	.	.	.	.	.	18/20	nonpreferredpair	ENST00000296343	Transcript	.	.	ENSG00000145016	28991	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RUBIC_HUMAN	KIAA0226	HGNC	B4DIJ0_HUMAN	.	UPI00001C1DE4	SNV	KIAA0226,synonymous_variant,p.%3D,ENST00000415452,;KIAA0226,synonymous_variant,p.%3D,ENST00000296343,;KIAA0226,synonymous_variant,p.%3D,ENST00000413360,;KIAA0226,synonymous_variant,p.%3D,ENST00000273582,;KIAA0226,synonymous_variant,p.%3D,ENST00000389665,;MIR922,upstream_gene_variant,,ENST00000401223,;	2640	23	32	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913413	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	47	110	0	ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS2694.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CACTACCACAG	SITE|p.T41I|c.122C>T|94,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.T41A|c.121A>G|828,CODON|p.T41S|c.121A>T|3,CODON|p.T41P|c.121A>C|6,CODON|p.T41S|c.122C>G|3,CODON|p.T41N|c.122C>A|7,BUFFER|p.V22_G38del|c.64_114del51|3,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.S45del|c.131_133delCTT|3,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45del|c.133_135delTCT|50,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45P|c.133T>C|225,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913413,COSM5701,COSM5676,COSM5730	3/15	nonpreferredpair	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.931)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Thr41Ile,ENST00000349496,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000426215,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396185,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000405570,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396183,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	402	111	103	SUCCESS
CDHR4	389118	.	GRCh37	3	49836194	49836194	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	33	1	ENST00000412678.2:c.495+65A>G		p.*165*	ENST00000412678	NM_001007540.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46829.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGTTAATT	NONE	.	.	.	.	.	ENSP00000391409	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	MODIFIER	4/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,3_prime_UTR_variant,,ENST00000487256,;CDHR4,3_prime_UTR_variant,,ENST00000343366,;CDHR4,intron_variant,,ENST00000412678,;FAM212A,upstream_gene_variant,,ENST00000333323,;	.	34	17	SUCCESS
TRAIP	10293	.	GRCh37	3	49867199	49867199	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	25	0	ENST00000331456.2:c.1087G>A	p.Glu363Lys	p.E363K	ENST00000331456	NM_005879.2	363	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS2806.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCCTGCA	NONE	.	.	.	.	.	ENSP00000328203	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000331456	Transcript	.	.	ENSG00000183763	30764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.75)	.	TRAIP_HUMAN	TRAIP	HGNC	A4UCT7_HUMAN	.	UPI000006FE67	SNV	TRAIP,missense_variant,p.Glu208Lys,ENST00000469027,;TRAIP,missense_variant,p.Glu363Lys,ENST00000331456,;TRAIP,splice_region_variant,,ENST00000473195,;TRAIP,non_coding_transcript_exon_variant,,ENST00000491060,;TRAIP,downstream_gene_variant,,ENST00000475495,;	1201	25	18	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64582656	64582656	+	synonymous_variant	Silent	SNP	G	G	C	rs781108746	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	31	51	0	ENST00000498707.1:c.4029C>G	p.Thr1343=	p.T1343=	ENST00000498707	NM_182920.1	1343	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2903.1	4029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGGTACT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000418735	.	27/40	.	.	.	.	.	.	.	.	rs781108746	27/40	nonpreferredpair	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,synonymous_variant,p.%3D,ENST00000481060,;ADAMTS9,synonymous_variant,p.%3D,ENST00000295903,;ADAMTS9,synonymous_variant,p.%3D,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	4372	51	55	SUCCESS
CADM2	253559	.	GRCh37	3	85984981	85984981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	83	213	0	ENST00000407528.2:c.738G>T	p.Leu246Phe	p.L246F	ENST00000407528	NM_001167674.1	246	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33792.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGACTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,missense_variant,p.Leu246Phe,ENST00000407528,;CADM2,missense_variant,p.Leu255Phe,ENST00000383699,;CADM2,missense_variant,p.Leu248Phe,ENST00000405615,;	744	213	197	SUCCESS
TENM3	55714	.	GRCh37	4	183267884	183267884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	66	0	ENST00000511685.1:c.313C>T	p.Leu105Phe	p.L105F	ENST00000511685		105	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47165.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCTCCCT	NONE	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Pfam_domain:PF06484	.	.	ENSP00000424226	.	3/28	.	.	.	.	.	.	.	.	.	3/28	nonpreferredpair	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	tolerated_low_confidence(0.08)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Leu105Phe,ENST00000512480,;TENM3,missense_variant,p.Leu105Phe,ENST00000511685,;TENM3,missense_variant,p.Leu105Phe,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000513201,;	436	66	66	SUCCESS
PCDH7	5099	.	GRCh37	4	30726038	30726038	+	synonymous_variant	Silent	SNP	T	T	A	rs749395229	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	31	0	ENST00000361762.2:c.2994T>A	p.Ser998=	p.S998=	ENST00000361762	NM_002589.2	998	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54753.1	2994	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTAGTTC	NONE	.	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Pfam_domain:PF08374	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	rs749395229	1/3	nonpreferredpair	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000511884,;PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,synonymous_variant,p.%3D,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	2994	31	57	SUCCESS
SMIM14	201895	.	GRCh37	4	39553765	39553765	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	81	174	0	ENST00000295958.5:c.281C>T	p.Pro94Leu	p.P94L	ENST00000295958	NM_174921.1	94	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3456.1	281	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGGTGGA	NONE	.	.	hmmpanther:PTHR31019,Pfam_domain:PF11027	.	.	ENSP00000295958	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000295958	Transcript	.	.	ENSG00000163683	27321	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.908)	.	deleterious(0)	.	SIM14_HUMAN	SMIM14	HGNC	D6R9U3_HUMAN	.	UPI00000420ED	SNV	SMIM14,missense_variant,p.Pro94Leu,ENST00000295958,;SMIM14,synonymous_variant,p.%3D,ENST00000511809,;SMIM14,downstream_gene_variant,,ENST00000505729,;UGDH-AS1,intron_variant,,ENST00000504032,;SMIM14,non_coding_transcript_exon_variant,,ENST00000512441,;SMIM14,non_coding_transcript_exon_variant,,ENST00000510628,;SMIM14,3_prime_UTR_variant,,ENST00000507613,;	668	175	188	SUCCESS
GABRA2	2555	.	GRCh37	4	46390683	46390684	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	237	88	277	0	ENST00000356504.1:c.40_41delinsA	p.Leu14IlefsTer61	p.L14Ifs*61	ENST00000356504	NM_001114175.1	14	CTt/At	0	.	.	.	.	.	T	L/X	protein_coding	YES	CCDS3471.1	40-41	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ACAAAAAGCAGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945:SF218,hmmpanther:PTHR18945,Prints_domain:PR01615	.	.	ENSP00000421828	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	substitution	GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000503806,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000510861,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000515082,;GABRA2,frameshift_variant,p.Leu14IlefsTer59,ENST00000507460,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000506961,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000356504,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000507069,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000381620,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000514090,;GABRA2,5_prime_UTR_variant,,ENST00000540012,;RP11-436F23.1,upstream_gene_variant,,ENST00000502455,;GABRA2,non_coding_transcript_exon_variant,,ENST00000509716,;GABRA2,frameshift_variant,p.Leu14IlefsTer?,ENST00000514193,;GABRA2,frameshift_variant,p.Leu14IlefsTer151,ENST00000513005,;GABRA2,frameshift_variant,p.Leu14IlefsTer61,ENST00000510233,;	214-215	277	325	SUCCESS
UGT2B10	7365	.	GRCh37	4	69682095	69682095	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	90	209	0	ENST00000265403.7:c.358G>C	p.Asp120His	p.D120H	ENST00000265403	NM_001075.4	120	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	.	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATGACATA	NONE	.	.	hmmpanther:PTHR11926:SF124,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000265403	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000265403	Transcript	.	.	ENSG00000109181	12544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.349)	.	deleterious(0.02)	.	UDB10_HUMAN	UGT2B10	HGNC	.	.	UPI0000137A96	SNV	UGT2B10,missense_variant,p.Asp120His,ENST00000265403,;UGT2B10,missense_variant,p.Asp120His,ENST00000458688,;RP11-468N14.1,downstream_gene_variant,,ENST00000507455,;	385	209	226	SUCCESS
ANKRD17	26057	.	GRCh37	4	73990633	73990633	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	55	0	ENST00000358602.4:c.3489G>A	p.Gln1163=	p.Q1163=	ENST00000358602	NM_032217.3	1163	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS34004.1	3489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCTGTCT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000351416	.	18/34	.	.	.	.	.	.	.	.	.	18/34	nonpreferredpair	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	SNV	ANKRD17,synonymous_variant,p.%3D,ENST00000561029,;ANKRD17,synonymous_variant,p.%3D,ENST00000358602,;ANKRD17,synonymous_variant,p.%3D,ENST00000509867,;ANKRD17,synonymous_variant,p.%3D,ENST00000330838,;ANKRD17,synonymous_variant,p.%3D,ENST00000558247,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,3_prime_UTR_variant,,ENST00000560372,;	3606	55	42	SUCCESS
ALB	213	.	GRCh37	4	74279198	74279198	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	29	56	0	ENST00000295897.4:c.905G>T	p.Cys302Phe	p.C302F	ENST00000295897	NM_000477.5	302	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS3555.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGCTGTG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Cys302Phe,ENST00000509063,;ALB,missense_variant,p.Cys147Phe,ENST00000511370,;ALB,missense_variant,p.Cys110Phe,ENST00000415165,;ALB,missense_variant,p.Cys302Phe,ENST00000295897,;ALB,missense_variant,p.Cys152Phe,ENST00000503124,;ALB,missense_variant,p.Cys187Phe,ENST00000401494,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	994	56	64	SUCCESS
ANXA3	306	.	GRCh37	4	79494388	79494388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	48	0	ENST00000264908.6:c.70G>T	p.Ala24Ser	p.A24S	ENST00000264908	NM_005139.2	24	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3584.1	70	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGCTGAA	NONE	.	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,Gene3D:1.10.220.10,Pfam_domain:PF00191,Superfamily_domains:SSF47874	.	.	ENSP00000264908	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,missense_variant,p.Ala24Ser,ENST00000514171,;ANXA3,missense_variant,p.Ala24Ser,ENST00000264908,;ANXA3,missense_variant,p.Ala24Ser,ENST00000512373,;ANXA3,missense_variant,p.Ala24Ser,ENST00000508214,;ANXA3,5_prime_UTR_variant,,ENST00000503570,;ANXA3,intron_variant,,ENST00000512884,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;	449	48	27	SUCCESS
MARCH6	0	.	GRCh37	5	10390611	10390611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	31	0	ENST00000274140.5:c.575A>G	p.Glu192Gly	p.E192G	ENST00000274140	NM_005885.3	192	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34135.1	575	RADIA|VARSCANS	.	AAATGAGGTAA	NONE	.	.	hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	.	.	ENSP00000274140	.	6/26	.	.	.	.	.	.	.	.	.	6/26	nonpreferredpair	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.035)	.	tolerated(0.1)	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,missense_variant,p.Glu144Gly,ENST00000449913,;MARCH6,missense_variant,p.Glu192Gly,ENST00000274140,;MARCH6,missense_variant,p.Glu87Gly,ENST00000503788,;MARCH6,downstream_gene_variant,,ENST00000507863,;MARCH6,downstream_gene_variant,,ENST00000510872,;MARCH6,splice_region_variant,,ENST00000511802,;MARCH6,splice_region_variant,,ENST00000502795,;MARCH6,non_coding_transcript_exon_variant,,ENST00000506131,;	707	31	37	SUCCESS
SLC12A7	10723	.	GRCh37	5	1094302	1094302	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	90	0	ENST00000264930.5:c.186C>A	p.Ser62Arg	p.S62R	ENST00000264930	NM_006598.2	62	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS34129.1	186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGCTCTC	NONE	.	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	2/24	.	.	.	.	.	.	.	.	.	2/24	nonpreferredpair	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,missense_variant,p.Ser62Arg,ENST00000264930,;	230	90	53	SUCCESS
GRAMD3	0	.	GRCh37	5	125819257	125819257	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	37	0	ENST00000513040.1:c.883A>C	p.Asn295His	p.N295H	ENST00000513040	NM_001146319.1	295	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS54891.1	883	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGAACTCT	NONE	.	.	hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF5	.	.	ENSP00000426120	.	9/14	.	.	.	.	.	.	.	.	.	9/14	nonpreferredpair	ENST00000513040	Transcript	.	.	ENSG00000155324	24911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.2)	.	GRAM3_HUMAN	GRAMD3	HGNC	Q9BYJ8_HUMAN,B7Z4W8_HUMAN	.	UPI0001914E8F	SNV	GRAMD3,missense_variant,p.Asn257His,ENST00000515200,;GRAMD3,missense_variant,p.Asn171His,ENST00000502348,;GRAMD3,missense_variant,p.Asn288His,ENST00000542322,;GRAMD3,missense_variant,p.Asn257His,ENST00000543198,;GRAMD3,missense_variant,p.Asn280His,ENST00000285689,;GRAMD3,missense_variant,p.Asn295His,ENST00000513040,;GRAMD3,missense_variant,p.Asn264His,ENST00000511134,;GRAMD3,missense_variant,p.Asn176His,ENST00000544396,;GRAMD3,downstream_gene_variant,,ENST00000506445,;RP11-517I3.1,intron_variant,,ENST00000512500,;RP11-517I3.1,intron_variant,,ENST00000515808,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000512579,;GRAMD3,3_prime_UTR_variant,,ENST00000514099,;GRAMD3,3_prime_UTR_variant,,ENST00000513978,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000504859,;GRAMD3,downstream_gene_variant,,ENST00000508523,;	1083	38	41	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140309115	140309115	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	99	0	ENST00000253807.2:c.2433+205G>A		p.*811*	ENST00000253807	NM_018898.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4241.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGAGAAA	NONE	.	.	.	.	.	ENSP00000253807	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,3_prime_UTR_variant,,ENST00000409700,;PCDHAC1,intron_variant,,ENST00000253807,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	.	99	81	SUCCESS
MYO10	4651	.	GRCh37	5	16701447	16701447	+	synonymous_variant	Silent	SNP	T	T	C	rs372673284	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	53	0	ENST00000513610.1:c.3057A>G	p.Arg1019=	p.R1019=	ENST00000513610	NM_012334.2	1019	cgA/cgG	0	G:0.0002	.	.	.	.	C	R	protein_coding	YES	CCDS54834.1	3057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTTCGCTG	NONE	byCluster	.	.	.	G:0	ENSP00000421280	.	25/41	.	.	.	.	.	.	.	.	rs372673284	25/41	nonpreferredpair	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,synonymous_variant,p.%3D,ENST00000274203,;MYO10,synonymous_variant,p.%3D,ENST00000427430,;MYO10,synonymous_variant,p.%3D,ENST00000515803,;MYO10,synonymous_variant,p.%3D,ENST00000505695,;MYO10,synonymous_variant,p.%3D,ENST00000513610,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000510401,;MYO10,downstream_gene_variant,,ENST00000512061,;MYO10,downstream_gene_variant,,ENST00000506343,;	3512	53	52	SUCCESS
NSD1	64324	.	GRCh37	5	176562164	176562164	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	68	0	ENST00000439151.2:c.60G>A	p.Val20=	p.V20=	ENST00000439151	NM_022455.4	20	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4412.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGAATTT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	.	.	ENSP00000395929	.	2/23	.	.	.	.	.	.	.	.	.	2/23	nonpreferredpair	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,synonymous_variant,p.%3D,ENST00000361032,;NSD1,synonymous_variant,p.%3D,ENST00000439151,;NSD1,5_prime_UTR_variant,,ENST00000354179,;NSD1,5_prime_UTR_variant,,ENST00000508896,;NSD1,5_prime_UTR_variant,,ENST00000347982,;NSD1,5_prime_UTR_variant,,ENST00000511258,;NSD1,5_prime_UTR_variant,,ENST00000510954,;NSD1,non_coding_transcript_exon_variant,,ENST00000602285,;NSD1,non_coding_transcript_exon_variant,,ENST00000512992,;	105	68	51	SUCCESS
RGS14	10636	.	GRCh37	5	176798894	176798894	+	synonymous_variant	Silent	SNP	C	C	A	rs368278852	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	19	0	ENST00000408923.3:c.1519C>A	p.Arg507=	p.R507=	ENST00000408923	NM_006480.4	507	Cgg/Agg	0	A:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS43405.1	1519	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCGGGTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50877,Pfam_domain:PF02188,SMART_domains:SM00390	.	A:0	ENSP00000386229	.	15/15	.	.	.	.	.	.	.	.	rs368278852	15/15	nonpreferredpair,oxog	ENST00000408923	Transcript	.	.	ENSG00000169220	9996	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS14_HUMAN	RGS14	HGNC	.	.	UPI0000163BE6	SNV	RGS14,synonymous_variant,p.%3D,ENST00000511890,;RGS14,synonymous_variant,p.%3D,ENST00000408923,;RGS14,non_coding_transcript_exon_variant,,ENST00000506944,;RGS14,downstream_gene_variant,,ENST00000503110,;RGS14,non_coding_transcript_exon_variant,,ENST00000514102,;RGS14,non_coding_transcript_exon_variant,,ENST00000503044,;RGS14,non_coding_transcript_exon_variant,,ENST00000425155,;RGS14,downstream_gene_variant,,ENST00000504631,;RGS14,downstream_gene_variant,,ENST00000509289,;RGS14,downstream_gene_variant,,ENST00000512490,;RGS14,downstream_gene_variant,,ENST00000512000,;RGS14,downstream_gene_variant,,ENST00000502731,;RGS14,downstream_gene_variant,,ENST00000514713,;	1707	19	18	SUCCESS
GDNF	2668	.	GRCh37	5	37815756	37815756	+	synonymous_variant	Silent	SNP	G	G	A	rs121918536	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	107	0	ENST00000326524.2:c.633C>T	p.Ile211=	p.I211=	ENST00000326524	NM_000514.3	211	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54845.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	risk_factor	AGTCAGATACA	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF016238,SMART_domains:SM00204,Gene3D:2.10.90.10,Pfam_domain:PF00019,hmmpanther:PTHR12173:SF1,hmmpanther:PTHR12173,PROSITE_profiles:PS51362	.	.	ENSP00000409007	.	3/3	.	.	.	.	.	.	.	.	CM005545,rs121918536	3/3	nonpreferredpair	ENST00000427982	Transcript	1	.	ENSG00000168621	4232	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	GDNF_HUMAN	GDNF	HGNC	.	.	UPI0000E20965	SNV	GDNF,synonymous_variant,p.%3D,ENST00000515058,;GDNF,synonymous_variant,p.%3D,ENST00000381826,;GDNF,synonymous_variant,p.%3D,ENST00000427982,;GDNF,synonymous_variant,p.%3D,ENST00000344622,;GDNF,synonymous_variant,p.%3D,ENST00000326524,;GDNF,downstream_gene_variant,,ENST00000502572,;GDNF,downstream_gene_variant,,ENST00000510177,;	853	107	83	SUCCESS
SKIV2L2	0	.	GRCh37	5	54637586	54637586	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	82	0	ENST00000230640.5:c.768T>C	p.Tyr256=	p.Y256=	ENST00000230640	NM_015360.4	256	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS3967.1	768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATATGAG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Gene3D:3.40.50.300,Pfam_domain:PF00270,PIRSF_domain:PIRSF005198,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000230640	.	7/27	.	.	.	.	.	.	.	.	.	7/27	nonpreferredpair	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,synonymous_variant,p.%3D,ENST00000545714,;SKIV2L2,synonymous_variant,p.%3D,ENST00000230640,;SKIV2L2,intron_variant,,ENST00000504997,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,3_prime_UTR_variant,,ENST00000505565,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000502953,;	1022	82	93	SUCCESS
NSUN2	54888	.	GRCh37	5	6623327	6623327	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	61	0	ENST00000264670.6:c.537G>A		p.X179_splice	ENST00000264670	NM_017755.5	179	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS3869.1	537	RADIA|MUTECT|VARSCANS	.	GCTACCTTATG	NONE	.	.	PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF1,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000264670	.	5/19	.	.	.	.	.	.	.	.	.	5/19	nonpreferredpair	ENST00000264670	Transcript	1	.	ENSG00000037474	25994	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NSUN2_HUMAN	NSUN2	HGNC	G3V1R4_HUMAN	.	UPI000020BF2B	SNV	NSUN2,synonymous_variant,p.%3D,ENST00000264670,;NSUN2,synonymous_variant,p.%3D,ENST00000506139,;NSUN2,splice_region_variant,,ENST00000539938,;NSUN2,splice_region_variant,,ENST00000505264,;NSUN2,synonymous_variant,p.%3D,ENST00000504374,;NSUN2,upstream_gene_variant,,ENST00000505892,;	849	61	38	SUCCESS
PMCHL2	5370	.	GRCh37	5	70671812	70671812	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	52	0	ENST00000450213.2:n.200T>C		p.*67*	ENST00000450213				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTAAATT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000502659	Transcript	.	.	ENSG00000250387	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-136K7.2	Clone_based_vega_gene	.	.	.	SNV	RP11-136K7.2,intron_variant,,ENST00000517705,;RP11-136K7.2,intron_variant,,ENST00000502659,;RP11-136K7.3,upstream_gene_variant,,ENST00000518473,;PMCHL2,non_coding_transcript_exon_variant,,ENST00000450213,;PMCHL2,non_coding_transcript_exon_variant,,ENST00000415808,;PMCHL2,upstream_gene_variant,,ENST00000523548,;PMCHL2,non_coding_transcript_exon_variant,,ENST00000457791,;	.	52	44	SUCCESS
RPF2	84154	.	GRCh37	6	111318428	111318428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	71	0	ENST00000441448.2:c.277G>A	p.Gly93Ser	p.G93S	ENST00000441448	NM_032194.1	93	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS5088.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTGGCTCC	NONE	.	.	PROSITE_profiles:PS50833,hmmpanther:PTHR12728:SF0,hmmpanther:PTHR12728,Pfam_domain:PF04427,SMART_domains:SM00879	.	.	ENSP00000402338	.	5/10	.	.	.	.	.	.	.	.	.	5/10	nonpreferredpair	ENST00000441448	Transcript	.	.	ENSG00000197498	20870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.11)	.	RPF2_HUMAN	RPF2	HGNC	Q5VXN0_HUMAN	.	UPI000006E56D	SNV	RPF2,missense_variant,p.Gly93Ser,ENST00000441448,;RPF2,missense_variant,p.Gly60Ser,ENST00000425871,;RPF2,3_prime_UTR_variant,,ENST00000368864,;RPF2,3_prime_UTR_variant,,ENST00000607388,;	369	71	87	SUCCESS
SHPRH	257218	.	GRCh37	6	146264776	146264776	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs986945792	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	68	165	0	ENST00000275233.7:c.1741G>T	p.Val581Phe	p.V581F	ENST00000275233		581	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS43513.2	1741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACAAGCT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Pfam_domain:PF00176,SMART_domains:SM00487	.	.	ENSP00000356475	.	9/30	.	.	.	.	.	.	.	.	.	9/30	nonpreferredpair	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	tolerated_low_confidence(0.07)	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,missense_variant,p.Val581Phe,ENST00000275233,;SHPRH,missense_variant,p.Val581Phe,ENST00000438092,;SHPRH,missense_variant,p.Val581Phe,ENST00000367505,;SHPRH,missense_variant,p.Val581Phe,ENST00000367503,;SHPRH,missense_variant,p.Val470Phe,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;	2006	165	169	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151161944	151161944	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	75	0	ENST00000358517.2:c.4070T>G	p.Leu1357Arg	p.L1357R	ENST00000358517		1357	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS34552.1	4070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCTTTGGA	NONE	.	.	.	.	.	ENSP00000356297	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000367328	Transcript	.	.	ENSG00000120278	20884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	SNV	PLEKHG1,missense_variant,p.Leu1357Arg,ENST00000367328,;PLEKHG1,missense_variant,p.Leu1357Arg,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;	4382	75	60	SUCCESS
COL11A2	1302	.	GRCh37	6	33144048	33144048	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	67	0	ENST00000374708.4:c.1944T>A	p.His648Gln	p.H648Q	ENST00000374708	NM_080681.2	648	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS43452.1	1944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTATGACC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	26/64	.	.	.	.	.	.	.	.	.	26/64	nonpreferredpair	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.His674Gln,ENST00000395197,;COL11A2,missense_variant,p.His687Gln,ENST00000374713,;COL11A2,missense_variant,p.His627Gln,ENST00000361917,;COL11A2,missense_variant,p.His653Gln,ENST00000374712,;COL11A2,missense_variant,p.His713Gln,ENST00000357486,;COL11A2,missense_variant,p.His648Gln,ENST00000374708,;COL11A2,missense_variant,p.His734Gln,ENST00000341947,;COL11A2,missense_variant,p.His708Gln,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	2203	67	72	SUCCESS
SLC35B2	347734	.	GRCh37	6	44223037	44223037	+	synonymous_variant	Silent	SNP	G	G	A	rs538318523	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	72	0	ENST00000393812.3:c.705C>T	p.Tyr235=	p.Y235=	ENST00000393812	NM_178148.2	235	taC/taT	0	.	A:0.0015	.	A:0	.	A	Y	protein_coding	YES	CCDS34462.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCGTAGCT	NONE	byFrequency|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10778,hmmpanther:PTHR10778:SF13,Pfam_domain:PF08449	A:0	.	ENSP00000377401	A:0	4/4	.	.	.	.	.	.	.	.	rs538318523	4/4	nonpreferredpair	ENST00000393812	Transcript	.	A:0.0004	ENSG00000157593	16872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	S35B2_HUMAN	SLC35B2	HGNC	B4DDM2_HUMAN,B3KVY9_HUMAN	.	UPI00000705AE	SNV	SLC35B2,synonymous_variant,p.%3D,ENST00000538577,;SLC35B2,synonymous_variant,p.%3D,ENST00000537814,;SLC35B2,synonymous_variant,p.%3D,ENST00000393812,;SLC35B2,3_prime_UTR_variant,,ENST00000393810,;HSP90AB1,downstream_gene_variant,,ENST00000371646,;HSP90AB1,downstream_gene_variant,,ENST00000353801,;NFKBIE,downstream_gene_variant,,ENST00000275015,;NFKBIE,downstream_gene_variant,,ENST00000443607,;HSP90AB1,downstream_gene_variant,,ENST00000371554,;MIR4647,upstream_gene_variant,,ENST00000583964,;SLC35B2,non_coding_transcript_exon_variant,,ENST00000495706,;	849	72	54	SUCCESS
FBXL4	26235	.	GRCh37	6	99322272	99322272	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766646887	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	119	0	ENST00000229971.1:c.1748C>A	p.Ser583Tyr	p.S583Y	ENST00000229971	NM_012160.4	583	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5041.1	1748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGATTCC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00367,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	10/10	.	.	.	.	.	.	.	.	rs766646887	10/10	nonpreferredpair	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0.01)	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,missense_variant,p.Ser583Tyr,ENST00000229971,;FBXL4,missense_variant,p.Ser583Tyr,ENST00000369244,;	2177	119	99	SUCCESS
PNPLA8	50640	.	GRCh37	7	108131857	108131857	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	44	66	0	ENST00000257694.8:c.1680T>A	p.Pro560=	p.P560=	ENST00000257694	NM_001256007.1	560	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34733.1	1680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTAGGACA	NONE	.	.	hmmpanther:PTHR24185,Pfam_domain:PF01734,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151	.	.	ENSP00000410804	.	9/12	.	.	.	.	.	.	.	.	.	9/12	nonpreferredpair	ENST00000422087	Transcript	.	.	ENSG00000135241	28900	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL8_HUMAN	PNPLA8	HGNC	C9JAX4_HUMAN,C9J9W9_HUMAN	.	UPI0000073D34	SNV	PNPLA8,synonymous_variant,p.%3D,ENST00000453144,;PNPLA8,synonymous_variant,p.%3D,ENST00000257694,;PNPLA8,synonymous_variant,p.%3D,ENST00000388728,;PNPLA8,synonymous_variant,p.%3D,ENST00000426128,;PNPLA8,synonymous_variant,p.%3D,ENST00000453085,;PNPLA8,synonymous_variant,p.%3D,ENST00000422087,;PNPLA8,synonymous_variant,p.%3D,ENST00000436062,;	2087	66	126	SUCCESS
MPP6	0	.	GRCh37	7	24705683	24705683	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	72	0	ENST00000222644.5:c.927G>C	p.Met309Ile	p.M309I	ENST00000222644		309	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS5388.1	927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGATGTA	NONE	.	.	Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122	.	.	ENSP00000222644	.	8/12	.	.	.	.	.	.	.	.	.	8/12	nonpreferredpair	ENST00000222644	Transcript	.	.	ENSG00000105926	18167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.28)	.	MPP6_HUMAN	MPP6	HGNC	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN	.	UPI0000001C1B	SNV	MPP6,missense_variant,p.Met309Ile,ENST00000396475,;MPP6,missense_variant,p.Met197Ile,ENST00000409761,;MPP6,missense_variant,p.Met309Ile,ENST00000222644,;MPP6,downstream_gene_variant,,ENST00000430180,;MPP6,missense_variant,p.Met17Ile,ENST00000464384,;MPP6,downstream_gene_variant,,ENST00000472674,;	1177	72	80	SUCCESS
RSPH10B	222967	.	GRCh37	7	5967916	5967916	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	274	113	445	0	ENST00000337579.3:c.2343A>G	p.Glu781=	p.E781=	ENST00000337579		781	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS34598.1	2343	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTTCTTC	NONE	.	.	.	.	.	ENSP00000385443	.	19/20	.	.	.	.	.	.	.	.	.	19/20	nonpreferredpair	ENST00000405415	Transcript	.	.	ENSG00000155026	27362	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	R10B1_HUMAN	RSPH10B	HGNC	C9JJN2_HUMAN	.	UPI000020EAA5	SNV	RSPH10B,synonymous_variant,p.%3D,ENST00000441023,;RSPH10B,synonymous_variant,p.%3D,ENST00000337579,;RSPH10B,synonymous_variant,p.%3D,ENST00000404406,;RSPH10B,synonymous_variant,p.%3D,ENST00000405415,;RSPH10B,3_prime_UTR_variant,,ENST00000539903,;CCZ1,downstream_gene_variant,,ENST00000537980,;CCZ1,downstream_gene_variant,,ENST00000325974,;RSPH10B,non_coding_transcript_exon_variant,,ENST00000535104,;CCZ1,downstream_gene_variant,,ENST00000496860,;CCZ1,downstream_gene_variant,,ENST00000474507,;	2730	445	387	SUCCESS
ABCB4	5244	.	GRCh37	7	87051459	87051459	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	46	161	0	ENST00000265723.4:c.2294C>T	p.Ser765Phe	p.S765F	ENST00000265723	NM_000443.3	765	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS5606.1	2294	RADIA|VARSCANS	.	AAAAAGAAATA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265723	.	18/28	.	.	.	.	.	.	.	.	.	18/28	nonpreferredpair	ENST00000265723	Transcript	.	.	ENSG00000005471	45	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.335)	.	deleterious(0.03)	.	MDR3_HUMAN	ABCB4	HGNC	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN	.	UPI000013D66B	SNV	ABCB4,missense_variant,p.Ser765Phe,ENST00000453593,;ABCB4,missense_variant,p.Ser765Phe,ENST00000265723,;ABCB4,missense_variant,p.Ser765Phe,ENST00000358400,;ABCB4,missense_variant,p.Ser765Phe,ENST00000545634,;ABCB4,missense_variant,p.Ser765Phe,ENST00000359206,;ABCB4,downstream_gene_variant,,ENST00000469770,;	2406	161	227	SUCCESS
PVRIG	79037	.	GRCh37	7	99818613	99818613	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	79	0	ENST00000317271.2:c.720C>A	p.Cys240Ter	p.C240*	ENST00000317271	NM_024070.3	240	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS5690.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCCGCCC	NONE	.	.	.	.	.	ENSP00000316675	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000317271	Transcript	.	.	ENSG00000213413	32190	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRIG_HUMAN	PVRIG	HGNC	.	.	UPI000013FFF0	SNV	PVRIG,stop_gained,p.Cys240Ter,ENST00000317271,;GATS,intron_variant,,ENST00000436886,;AC005071.1,upstream_gene_variant,,ENST00000410550,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000435519,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000414739,;PVRIG,downstream_gene_variant,,ENST00000471803,;GATS,downstream_gene_variant,,ENST00000538588,;STAG3,3_prime_UTR_variant,,ENST00000451963,;GATS,downstream_gene_variant,,ENST00000292369,;	1083	79	93	SUCCESS
ST18	9705	.	GRCh37	8	53085085	53085085	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	17	0	ENST00000276480.7:c.336C>A	p.Ser112=	p.S112=	ENST00000276480	NM_014682.2	112	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6149.1	336	RADIA|VARSCANS	.	CTACTGGAGTT	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	.	.	ENSP00000276480	.	10/26	.	.	.	.	.	.	.	.	.	10/26	nonpreferredpair	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,synonymous_variant,p.%3D,ENST00000517580,;ST18,synonymous_variant,p.%3D,ENST00000276480,;ST18,non_coding_transcript_exon_variant,,ENST00000520257,;ST18,synonymous_variant,p.%3D,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;	1020	17	23	SUCCESS
ODF2	4957	.	GRCh37	9	131256871	131256871	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	41	0	ENST00000434106.3:c.1835A>C	p.Glu612Ala	p.E612A	ENST00000434106	NM_153433.1	612	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS56588.1	1835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGAGTGCC	BUFFER|p.A584A|c.1752G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162	.	.	ENSP00000403453	.	17/21	.	.	.	.	.	.	.	.	COSM487088,COSM1137954	17/21	nonpreferredpair	ENST00000434106	Transcript	.	.	ENSG00000136811	8114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.331)	.	deleterious(0.04)	1,1	ODFP2_HUMAN	ODF2	HGNC	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN	.	UPI0000211922	SNV	ODF2,missense_variant,p.Glu656Ala,ENST00000372814,;ODF2,missense_variant,p.Glu32Ala,ENST00000483070,;ODF2,missense_variant,p.Glu531Ala,ENST00000448249,;ODF2,missense_variant,p.Glu607Ala,ENST00000351030,;ODF2,missense_variant,p.Glu588Ala,ENST00000393527,;ODF2,missense_variant,p.Glu612Ala,ENST00000604420,;ODF2,missense_variant,p.Glu588Ala,ENST00000444119,;ODF2,missense_variant,p.Glu612Ala,ENST00000434106,;ODF2,missense_variant,p.Glu593Ala,ENST00000372791,;ODF2,missense_variant,p.Glu593Ala,ENST00000546203,;ODF2,missense_variant,p.Glu607Ala,ENST00000372807,;ODF2,missense_variant,p.Glu612Ala,ENST00000393533,;ODF2,upstream_gene_variant,,ENST00000488909,;	2198	41	35	SUCCESS
RP11-54D18.3	0	.	GRCh37	9	15048007	15048007	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs374043811	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	113	304	0	ENST00000609203.1:n.654C>A		p.*218*	ENST00000609203				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATGTGTAG	NONE	.	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	rs374043811	4/10	nonpreferredpair	ENST00000609203	Transcript	.	.	ENSG00000232000	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-54D18.3	Clone_based_vega_gene	.	.	.	SNV	RP11-54D18.3,non_coding_transcript_exon_variant,,ENST00000609203,;RP11-54D18.3,non_coding_transcript_exon_variant,,ENST00000423965,;	654	304	286	SUCCESS
GRHPR	9380	.	GRCh37	9	37428607	37428607	+	intron_variant	Intron	SNP	T	T	G	rs376674882	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	9	0	ENST00000318158.6:c.493+38T>G		p.*165*	ENST00000318158	NM_012203.1			0	C:0	.	.	.	.	G	.	protein_coding	YES	CCDS6609.1	.	RADIA|MUTECT	.	GGCTCTCACAG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000313432	.	.	.	.	.	.	.	.	.	.	rs376674882	.	nonpreferredpair	ENST00000318158	Transcript	.	.	ENSG00000137106	4570	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRHPR_HUMAN	GRHPR	HGNC	.	.	UPI0000073E2F	SNV	GRHPR,intron_variant,,ENST00000318158,;GRHPR,intron_variant,,ENST00000607784,;GRHPR,non_coding_transcript_exon_variant,,ENST00000493368,;GRHPR,intron_variant,,ENST00000491488,;GRHPR,intron_variant,,ENST00000460882,;GRHPR,upstream_gene_variant,,ENST00000512404,;GRHPR,upstream_gene_variant,,ENST00000482603,;GRHPR,downstream_gene_variant,,ENST00000487399,;GRHPR,non_coding_transcript_exon_variant,,ENST00000480596,;GRHPR,non_coding_transcript_exon_variant,,ENST00000497693,;GRHPR,intron_variant,,ENST00000377824,;GRHPR,upstream_gene_variant,,ENST00000494290,;	.	9	12	SUCCESS
C9orf170	0	.	GRCh37	9	89763702	89763702	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	23	0	ENST00000375941.2:c.57G>T	p.Gly19=	p.G19=	ENST00000375941	NM_001001709.2	19	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS35058.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGGTGTG	NONE	.	.	.	.	.	ENSP00000365108	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000375941	Transcript	.	.	ENSG00000204446	33817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI170_HUMAN	C9orf170	HGNC	.	.	UPI00001C0E2E	SNV	C9orf170,synonymous_variant,p.%3D,ENST00000375941,;	144	23	23	SUCCESS
COL4A5	1287	.	GRCh37	X	107844710	107844710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	47	0	ENST00000361603.2:c.2036T>C	p.Leu679Pro	p.L679P	ENST00000361603	NM_000495.4	679	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS35366.1	2036	MUTECT|VARSCANS	.	AGGTCTTCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	26/53	.	.	.	.	.	.	.	.	.	26/53	nonpreferredpair	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,missense_variant,p.Leu679Pro,ENST00000328300,;COL4A5,missense_variant,p.Leu679Pro,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	2280	47	46	SUCCESS
GDPD2	54857	.	GRCh37	X	69644840	69644840	+	synonymous_variant	Silent	SNP	C	C	T	rs762112029	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	33	42	0	ENST00000374382.3:c.6C>T	p.Ala2=	p.A2=	ENST00000374382	NM_017711.3	2	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55437.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCGAGTC	NONE	byFrequency	.	.	.	.	ENSP00000414019	.	2/17	.	.	.	.	.	.	.	.	rs762112029	2/17	nonpreferredpair	ENST00000453994	Transcript	.	.	ENSG00000130055	25974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDPD2_HUMAN	GDPD2	HGNC	.	.	UPI00017A7EF7	SNV	GDPD2,synonymous_variant,p.%3D,ENST00000453994,;GDPD2,synonymous_variant,p.%3D,ENST00000374382,;GDPD2,intron_variant,,ENST00000536730,;GDPD2,intron_variant,,ENST00000538649,;KIF4A,downstream_gene_variant,,ENST00000374403,;GDPD2,upstream_gene_variant,,ENST00000472623,;	367	42	35	SUCCESS
ZCCHC5	0	.	GRCh37	X	77913190	77913190	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	32	28	0	ENST00000321110.1:c.728C>A	p.Thr243Asn	p.T243N	ENST00000321110	NM_152694.2	243	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS14440.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTTAAA	NONE	.	.	hmmpanther:PTHR15503:SF7,hmmpanther:PTHR15503	.	.	ENSP00000316794	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000321110	Transcript	.	.	ENSG00000179300	22997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious(0.01)	.	ZCHC5_HUMAN	ZCCHC5	HGNC	.	.	UPI00000710DD	SNV	ZCCHC5,missense_variant,p.Thr243Asn,ENST00000321110,;	1024	28	35	SUCCESS
ABCC2	1244	.	GRCh37	10	101567952	101567952	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777261910	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	146	0	ENST00000370449.4:c.1781G>A	p.Ser594Asn	p.S594N	ENST00000370449	NM_000392.3	594	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS7484.1	1781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGCATGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000359478	.	13/32	.	.	.	.	.	.	.	.	rs777261910	13/32	PASS	ENST00000370449	Transcript	1	.	ENSG00000023839	53	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated(0.95)	.	MRP2_HUMAN	ABCC2	HGNC	.	.	UPI000013D6CA	SNV	ABCC2,missense_variant,p.Ser594Asn,ENST00000370449,;	1894	146	108	SUCCESS
ADAM8	101	.	GRCh37	10	135087474	135087474	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375135486	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	89	0	ENST00000445355.3:c.287C>T	p.Thr96Met	p.T96M	ENST00000445355	NM_001109.4	96	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS31319.2	287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTCACC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11905:SF20,hmmpanther:PTHR11905,Pfam_domain:PF01562	.	A:0.0003	ENSP00000453302	.	4/23	.	.	.	.	.	.	.	.	rs375135486	4/23	PASS	ENST00000445355	Transcript	.	.	ENSG00000151651	215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.03)	.	ADAM8_HUMAN	ADAM8	HGNC	.	.	UPI0001AE6E16	SNV	ADAM8,missense_variant,p.Thr161Met,ENST00000486609,;ADAM8,missense_variant,p.Thr96Met,ENST00000415217,;ADAM8,missense_variant,p.Thr96Met,ENST00000445355,;ADAM8,synonymous_variant,p.%3D,ENST00000485491,;ADAM8,non_coding_transcript_exon_variant,,ENST00000559180,;ADAM8,synonymous_variant,p.%3D,ENST00000560135,;ADAM8,non_coding_transcript_exon_variant,,ENST00000537099,;ADAM8,non_coding_transcript_exon_variant,,ENST00000463298,;ADAM8,upstream_gene_variant,,ENST00000468964,;ADAM8,upstream_gene_variant,,ENST00000561175,;	338	89	49	SUCCESS
ZNF37BP	100129482	.	GRCh37	10	43015384	43015384	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	114	0	ENST00000452075.3:n.2211G>T		p.*737*	ENST00000452075				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCCAACT	NONE	.	.	.	.	.	.	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000452075	Transcript	.	.	ENSG00000234420	13103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF37BP	HGNC	.	.	.	SNV	ZNF37BP,non_coding_transcript_exon_variant,,ENST00000452075,;ZNF37BP,downstream_gene_variant,,ENST00000473592,;ZNF37BP,downstream_gene_variant,,ENST00000435805,;ZNF37BP,non_coding_transcript_exon_variant,,ENST00000452306,;	2211	114	62	SUCCESS
MAT1A	4143	.	GRCh37	10	82039957	82039957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	91	0	ENST00000372213.3:c.521C>A	p.Pro174His	p.P174H	ENST00000372213	NM_000429.2	174	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS7365.1	521	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGGGAGG	NONE	.	.	HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Pfam_domain:PF02772,Gene3D:3.30.300.10,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	.	.	ENSP00000361287	.	5/9	.	.	.	.	.	.	.	.	.	5/9	oxog	ENST00000372213	Transcript	1	.	ENSG00000151224	6903	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.713)	.	deleterious(0)	.	METK1_HUMAN	MAT1A	HGNC	.	.	UPI000012EFF3	SNV	MAT1A,missense_variant,p.Pro111His,ENST00000455001,;MAT1A,missense_variant,p.Pro174His,ENST00000372213,;MAT1A,upstream_gene_variant,,ENST00000485270,;	782	91	61	SUCCESS
MRVI1	0	.	GRCh37	11	10603489	10603489	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199557491	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	116	0	ENST00000423302.2:c.2285C>T	p.Ala762Val	p.A762V	ENST00000423302	NM_130385.3	762	gCg/gTg	0	A:0.0002	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS55746.1	2285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCAGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15352:SF2,hmmpanther:PTHR15352,Pfam_domain:PF05781	A:0	A:0.0013	ENSP00000412130	A:0.002	19/21	.	.	.	.	.	.	.	.	rs199557491	19/21	PASS	ENST00000423302	Transcript	.	A:0.0004	ENSG00000072952	7237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	tolerated(0.89)	.	MRVI1_HUMAN	MRVI1	HGNC	H0YI08_HUMAN,E9PRG4_HUMAN	.	UPI0001F78343	SNV	MRVI1,missense_variant,p.Ala735Val,ENST00000436272,;MRVI1,missense_variant,p.Ala447Val,ENST00000424001,;MRVI1,missense_variant,p.Ala447Val,ENST00000545852,;MRVI1,missense_variant,p.Ala671Val,ENST00000547195,;MRVI1,missense_variant,p.Ala762Val,ENST00000423302,;MRVI1,missense_variant,p.Ala447Val,ENST00000558540,;MRVI1,missense_variant,p.Ala447Val,ENST00000534266,;MRVI1,missense_variant,p.Ala754Val,ENST00000531107,;MRVI1,missense_variant,p.Ala671Val,ENST00000527509,;MRVI1,missense_variant,p.Ala671Val,ENST00000552103,;MRVI1,missense_variant,p.Ala556Val,ENST00000541483,;MRVI1,missense_variant,p.Ala753Val,ENST00000421747,;MRVI1-AS1,intron_variant,,ENST00000529979,;MRVI1-AS1,intron_variant,,ENST00000529829,;LYVE1,intron_variant,,ENST00000531706,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;MRVI1,3_prime_UTR_variant,,ENST00000526414,;	2435	116	74	SUCCESS
BACE1	23621	.	GRCh37	11	117161738	117161739	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	116	0	ENST00000313005.6:c.969dup	p.Leu324AlafsTer28	p.L324Afs*28	ENST00000313005	NM_138971.3	323	-/G	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS8383.1	969-970	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTAGCCAGA	NONE	.	.	hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF245,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630,Prints_domain:PR01815	.	.	ENSP00000318585	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000313005	Transcript	.	.	ENSG00000186318	933	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BACE1_HUMAN	BACE1	HGNC	U3KPS1_HUMAN,H0YDX0_HUMAN	.	UPI000013F419	insertion	BACE1,frameshift_variant,p.Leu290AlafsTer28,ENST00000528053,;BACE1,frameshift_variant,p.Leu199AlafsTer28,ENST00000510630,;BACE1,frameshift_variant,p.Leu280AlafsTer28,ENST00000445823,;BACE1,frameshift_variant,p.Leu324AlafsTer28,ENST00000313005,;BACE1,frameshift_variant,p.Leu255AlafsTer28,ENST00000428381,;BACE1,frameshift_variant,p.Leu224AlafsTer28,ENST00000392937,;BACE1,frameshift_variant,p.Leu299AlafsTer28,ENST00000513780,;BACE1,downstream_gene_variant,,ENST00000504995,;BACE1,downstream_gene_variant,,ENST00000510915,;RNF214,downstream_gene_variant,,ENST00000530849,;BACE1,downstream_gene_variant,,ENST00000514464,;BACE1,non_coding_transcript_exon_variant,,ENST00000530824,;BACE1,non_coding_transcript_exon_variant,,ENST00000509916,;	1430-1431	116	81	SUCCESS
DSCAML1	57453	.	GRCh37	11	117374691	117374691	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1366888068	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	35	175	0	ENST00000321322.6:c.2408G>A	p.Arg803His	p.R803H	ENST00000321322	NM_020693.2	803	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8384.1	2408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCGGCCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	11/33	.	.	.	.	.	.	.	.	COSM1250719	11/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.969)	.	tolerated(0.06)	1	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Arg533His,ENST00000527706,;DSCAML1,missense_variant,p.Arg803His,ENST00000321322,;	2410	175	119	SUCCESS
FOXR1	283150	.	GRCh37	11	118842683	118842683	+	synonymous_variant	Silent	SNP	C	C	A	rs145283417	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	59	0	ENST00000317011.3:c.42C>A	p.Leu14=	p.L14=	ENST00000317011	NM_181721.2	14	ctC/ctA	0	A:0	.	.	.	.	A	L	protein_coding	YES	CCDS31688.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCCCCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11829:SF152,hmmpanther:PTHR11829	.	A:0.0002	ENSP00000314806	.	1/6	.	.	.	.	.	.	.	.	rs145283417	1/6	PASS	ENST00000317011	Transcript	.	.	ENSG00000176302	29980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXR1_HUMAN	FOXR1	HGNC	.	.	UPI0000192103	SNV	FOXR1,synonymous_variant,p.%3D,ENST00000317011,;Y_RNA,downstream_gene_variant,,ENST00000410597,;FOXR1,synonymous_variant,p.%3D,ENST00000531539,;	267	59	21	SUCCESS
C11orf63	0	.	GRCh37	11	122830087	122830087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	8	211	0	ENST00000227349.2:c.2271A>G	p.Ile757Met	p.I757M	ENST00000227349	NM_024806.3	757	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS8438.1	2271	MUTECT|MUSE	.	GAAATACTGCA	NONE	.	.	Pfam_domain:PF15261,hmmpanther:PTHR14726,Low_complexity_(Seg):seg	.	.	ENSP00000227349	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000227349	Transcript	.	.	ENSG00000109944	26288	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.18)	.	CK063_HUMAN	C11orf63	HGNC	.	.	UPI00001FA5AB	SNV	C11orf63,missense_variant,p.Ile757Met,ENST00000531316,;C11orf63,missense_variant,p.Ile757Met,ENST00000227349,;ATP5F1P5,upstream_gene_variant,,ENST00000526403,;	2568	211	122	SUCCESS
HSPA8	3312	.	GRCh37	11	122930222	122930222	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756920138	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	123	0	ENST00000227378.3:c.1079A>G	p.Asn360Ser	p.N360S	ENST00000227378		360	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8440.1	1079	MUTECT|MUSE|VARSCANS	.	TCTTATTCAGT	NONE	.	.	hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF156,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000432083	.	5/9	.	.	.	.	.	.	.	.	rs756920138	5/9	PASS	ENST00000534624	Transcript	.	.	ENSG00000109971	5241	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0.02)	.	HSP7C_HUMAN	HSPA8	HGNC	Q9NZ87_HUMAN,Q96IS6_HUMAN,Q96H53_HUMAN,Q96BE0_HUMAN,E9PS65_HUMAN,E9PQQ4_HUMAN,E9PQK7_HUMAN,E9PPY6_HUMAN,E9PN89_HUMAN,E9PN25_HUMAN,E9PM13_HUMAN,E9PLF4_HUMAN,E9PK54_HUMAN,A8K7Q2_HUMAN	.	UPI0000000801	SNV	HSPA8,missense_variant,p.Asn124Ser,ENST00000534319,;HSPA8,missense_variant,p.Asn341Ser,ENST00000526110,;HSPA8,missense_variant,p.Asn300Ser,ENST00000528292,;HSPA8,missense_variant,p.Asn360Ser,ENST00000453788,;HSPA8,missense_variant,p.Asn360Ser,ENST00000227378,;HSPA8,missense_variant,p.Asn360Ser,ENST00000532636,;HSPA8,missense_variant,p.Asn214Ser,ENST00000533540,;HSPA8,missense_variant,p.Asn360Ser,ENST00000534624,;HSPA8,downstream_gene_variant,,ENST00000525463,;HSPA8,downstream_gene_variant,,ENST00000525624,;HSPA8,downstream_gene_variant,,ENST00000532182,;HSPA8,downstream_gene_variant,,ENST00000534567,;HSPA8,downstream_gene_variant,,ENST00000530391,;HSPA8,downstream_gene_variant,,ENST00000527387,;HSPA8,upstream_gene_variant,,ENST00000524552,;HSPA8,downstream_gene_variant,,ENST00000524590,;HSPA8,upstream_gene_variant,,ENST00000526686,;SNORD14D,upstream_gene_variant,,ENST00000384390,;SNORD14E,upstream_gene_variant,,ENST00000364009,;SNORD14C,upstream_gene_variant,,ENST00000365382,;HSPA8,non_coding_transcript_exon_variant,,ENST00000526862,;HSPA8,intron_variant,,ENST00000533238,;HSPA8,non_coding_transcript_exon_variant,,ENST00000527983,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532091,;HSPA8,downstream_gene_variant,,ENST00000532780,;HSPA8,downstream_gene_variant,,ENST00000531063,;HSPA8,downstream_gene_variant,,ENST00000532167,;	1356	123	102	SUCCESS
OR10G8	219869	.	GRCh37	11	123901212	123901212	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	55	258	0	ENST00000431524.1:c.883A>T	p.Lys295Ter	p.K295*	ENST00000431524	NM_001004464.1	295	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31704.1	883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGAAGAAA	CODON|p.V294V|c.882G>A|6	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146	.	.	ENSP00000389072	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000431524	Transcript	.	.	ENSG00000234560	14845	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10G8_HUMAN	OR10G8	HGNC	.	.	UPI0000040A8F	SNV	OR10G8,stop_gained,p.Lys295Ter,ENST00000431524,;	916	258	186	SUCCESS
OR8G5	219865	.	GRCh37	11	124134976	124134976	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	122	0	ENST00000524943.2:c.254G>A	p.Gly85Glu	p.G85E	ENST00000524943	NM_001005198.1	85	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS66256.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGGGCTCA	NONE	.	.	Superfamily_domains:SSF81321,Prints_domain:PR00237,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF73,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000477014	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000524943	Transcript	.	.	ENSG00000255298	19622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.08)	.	OR8G5_HUMAN	OR8G5	HGNC	B2RND3_HUMAN	.	UPI00003B286B	SNV	OR8G5,missense_variant,p.Gly85Glu,ENST00000524943,;OR8G1,intron_variant,,ENST00000341493,;	254	122	111	SUCCESS
SAA4	6291	.	GRCh37	11	18253136	18253136	+	synonymous_variant	Silent	SNP	C	C	A	rs201938371	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	158	0	ENST00000278222.4:c.306G>T	p.Ser102=	p.S102=	ENST00000278222	NM_006512.3	102	tcG/tcT	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS7832.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCGAGTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23424:SF3,hmmpanther:PTHR23424,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197	T:0	.	ENSP00000278222	T:0.001	4/4	.	.	.	.	.	.	.	.	rs201938371,COSM284758	4/4	PASS	ENST00000278222	Transcript	.	T:0.0002	ENSG00000148965	10516	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	SAA4_HUMAN	SAA4	HGNC	.	.	UPI00001AEA25	SNV	SAA4,synonymous_variant,p.%3D,ENST00000278222,;SAA2-SAA4,non_coding_transcript_exon_variant,,ENST00000524555,;	487	158	107	SUCCESS
LUZP2	338645	.	GRCh37	11	24759781	24759781	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	53	232	0	ENST00000336930.6:c.266C>G	p.Ser89Cys	p.S89C	ENST00000336930		89	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS31446.1	266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCTCTTC	NONE	.	.	Pfam_domain:PF15294,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22414	.	.	ENSP00000336817	.	4/12	.	.	.	.	.	.	.	.	COSM1675902	4/12	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,missense_variant,p.Ser89Cys,ENST00000529015,;LUZP2,missense_variant,p.Ser89Cys,ENST00000336930,;LUZP2,missense_variant,p.Ser3Cys,ENST00000533227,;LUZP2,non_coding_transcript_exon_variant,,ENST00000531187,;LUZP2,non_coding_transcript_exon_variant,,ENST00000449567,;LUZP2,non_coding_transcript_exon_variant,,ENST00000405855,;	332	232	173	SUCCESS
LRP4	4038	.	GRCh37	11	46896443	46896443	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	119	0	ENST00000378623.1:c.4137C>A	p.Val1379=	p.V1379=	ENST00000378623	NM_002334.3	1379	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31478.1	4137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGACATG	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000367888	.	28/38	.	.	.	.	.	.	.	.	.	28/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,synonymous_variant,p.%3D,ENST00000378623,;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;	4380	119	103	SUCCESS
MS4A13	503497	.	GRCh37	11	60292725	60292725	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	217	111	397	0	ENST00000378186.2:c.232A>T	p.Ile78Phe	p.I78F	ENST00000378186	NM_001012417.2	78	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS31571.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAATTACT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320:SF42,hmmpanther:PTHR23320	.	.	ENSP00000367428	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000378186	Transcript	.	.	ENSG00000204979	16674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	deleterious(0.03)	.	M4A13_HUMAN	MS4A13	HGNC	.	.	UPI0000D6260E	SNV	MS4A13,missense_variant,p.Ile78Phe,ENST00000378186,;MS4A13,intron_variant,,ENST00000378185,;MS4A13,intron_variant,,ENST00000527948,;MS4A13,intron_variant,,ENST00000437058,;	555	397	328	SUCCESS
KLC2	64837	.	GRCh37	11	66031564	66031564	+	synonymous_variant	Silent	SNP	G	G	T	rs556408432	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	17	100	0	ENST00000316924.5:c.990G>T	p.Leu330=	p.L330=	ENST00000316924	NM_022822.2	330	ctG/ctT	0	.	A:0	.	A:0	.	T	L	protein_coding	YES	CCDS8130.1	990	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTGGCCCT	NONE	by1000G	.	Prints_domain:PR00381,Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13424,hmmpanther:PTHR19959:SF126,hmmpanther:PTHR19959,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	A:0	.	ENSP00000399403	A:0	8/16	.	.	.	.	.	.	.	.	rs556408432	8/16	PASS	ENST00000417856	Transcript	.	A:0.0002	ENSG00000174996	20716	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	KLC2_HUMAN	KLC2	HGNC	E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN	.	UPI0000001645	SNV	KLC2,synonymous_variant,p.%3D,ENST00000417856,;KLC2,synonymous_variant,p.%3D,ENST00000394066,;KLC2,synonymous_variant,p.%3D,ENST00000421552,;KLC2,synonymous_variant,p.%3D,ENST00000394065,;KLC2,synonymous_variant,p.%3D,ENST00000394067,;KLC2,synonymous_variant,p.%3D,ENST00000316924,;KLC2,intron_variant,,ENST00000394078,;KLC2,downstream_gene_variant,,ENST00000531240,;KLC2,downstream_gene_variant,,ENST00000526758,;KLC2,downstream_gene_variant,,ENST00000461611,;KLC2,downstream_gene_variant,,ENST00000440228,;KLC2,downstream_gene_variant,,ENST00000475757,;RAB1B,upstream_gene_variant,,ENST00000311481,;RAB1B,upstream_gene_variant,,ENST00000527397,;RP11-755F10.3,upstream_gene_variant,,ENST00000533576,;RP11-867G23.2,downstream_gene_variant,,ENST00000533287,;RP11-867G23.1,downstream_gene_variant,,ENST00000530805,;KLC2,downstream_gene_variant,,ENST00000483152,;KLC2,downstream_gene_variant,,ENST00000534023,;	1233	100	128	SUCCESS
TCIRG1	10312	.	GRCh37	11	67818045	67818045	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	146	364	0	ENST00000265686.3:c.2328C>A	p.Ile776=	p.I776=	ENST00000265686	NM_006019.3	776	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS8177.1	2328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCTTTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11629:SF21,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000265686	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000265686	Transcript	.	.	ENSG00000110719	11647	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPP3_HUMAN	TCIRG1	HGNC	Q6QBN6_HUMAN,E9PM12_HUMAN	.	UPI000006EC9A	SNV	TCIRG1,synonymous_variant,p.%3D,ENST00000532635,;TCIRG1,synonymous_variant,p.%3D,ENST00000265686,;TCIRG1,intron_variant,,ENST00000530063,;TCIRG1,downstream_gene_variant,,ENST00000529364,;CHKA,downstream_gene_variant,,ENST00000265689,;CHKA,downstream_gene_variant,,ENST00000356135,;RP11-802E16.3,upstream_gene_variant,,ENST00000526897,;RP11-802E16.3,upstream_gene_variant,,ENST00000529934,;RP11-802E16.3,upstream_gene_variant,,ENST00000534517,;TCIRG1,intron_variant,,ENST00000530802,;CHKA,downstream_gene_variant,,ENST00000533728,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000533005,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000525724,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000530449,;CHKA,downstream_gene_variant,,ENST00000525155,;TCIRG1,downstream_gene_variant,,ENST00000528981,;TCIRG1,downstream_gene_variant,,ENST00000524870,;TCIRG1,downstream_gene_variant,,ENST00000525516,;	2436	365	354	SUCCESS
TRIM66	9866	.	GRCh37	11	8642090	8642090	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	31	153	1	ENST00000299550.6:c.3047G>A	p.Ser1016Asn	p.S1016N	ENST00000299550	NM_014818.1	1016	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	.	3134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCTGCGG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121,Pfam_domain:PF00628,Gene3D:3.30.40.10,Superfamily_domains:SSF57903	.	.	ENSP00000384876	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(1)	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Ser1045Asn,ENST00000402157,;TRIM66,missense_variant,p.Ser1016Asn,ENST00000299550,;TRIM66,missense_variant,p.Ser148Asn,ENST00000530502,;TRIM66,non_coding_transcript_exon_variant,,ENST00000525788,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;TRIM66,upstream_gene_variant,,ENST00000529211,;	3575	154	120	SUCCESS
FAT3	120114	.	GRCh37	11	92533159	92533159	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	68	1	ENST00000298047.6:c.6980T>C	p.Val2327Ala	p.V2327A	ENST00000298047		2327	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	6980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGTCCAGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Val2327Ala,ENST00000298047,;FAT3,missense_variant,p.Val2327Ala,ENST00000409404,;FAT3,missense_variant,p.Val2177Ala,ENST00000525166,;	6997	69	53	SUCCESS
FAT3	120114	.	GRCh37	11	92616016	92616016	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	114	0	ENST00000298047.6:c.12394T>C	p.Tyr4132His	p.Y4132H	ENST00000298047		4132	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	.	12394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTACTGC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00179,SMART_domains:SM00181,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50026	.	.	ENSP00000298047	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Tyr467His,ENST00000533797,;FAT3,missense_variant,p.Tyr4132His,ENST00000298047,;FAT3,missense_variant,p.Tyr4132His,ENST00000409404,;FAT3,missense_variant,p.Tyr3982His,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	12411	114	73	SUCCESS
SETD8	0	.	GRCh37	12	123880916	123880924	+	inframe_deletion	In_Frame_Del	DEL	TCGCAAACT	TCGCAAACT	-	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	TCGCAAACT	TCGCAAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	77	0	ENST00000330479.4:c.535_543del	p.Arg179_Leu181del	p.R179_L181del	ENST00000330479	NM_020382.3	178	aaTCGCAAACTt/aat	0	.	.	.	.	.	-	NRKL/N	protein_coding	YES	CCDS9247.1	534-542	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGAATCGCAAACTTACGG	NONE	.	.	PROSITE_profiles:PS51571,Gene3D:2.170.270.10,PIRSF_domain:PIRSF027717	.	.	ENSP00000384629	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000402868	Transcript	.	.	ENSG00000183955	29489	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETD8_HUMAN	SETD8	HGNC	.	.	UPI000002B371	deletion	SETD8,inframe_deletion,p.Arg170_Leu172del,ENST00000437502,;SETD8,inframe_deletion,p.Arg179_Leu181del,ENST00000330479,;SETD8,inframe_deletion,p.Arg179_Leu181del,ENST00000402868,;SETD8,non_coding_transcript_exon_variant,,ENST00000478781,;SETD8,non_coding_transcript_exon_variant,,ENST00000485469,;SETD8,3_prime_UTR_variant,,ENST00000437519,;SETD8,non_coding_transcript_exon_variant,,ENST00000461103,;	960-968	77	55	SUCCESS
LOH12CR1	0	.	GRCh37	12	12510356	12510356	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs768776428	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	50	0	ENST00000314565.4:c.-30C>T		p.*10*	ENST00000314565	NM_058169.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8649.1	.	RADIA|VARSCANS	.	CCCGCCGTTCT	NONE	.	.	.	.	.	ENSP00000321546	.	1/4	.	.	.	.	.	.	.	.	rs768776428	1/4	PASS	ENST00000314565	Transcript	.	.	ENSG00000165714	17950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	L12R1_HUMAN	LOH12CR1	HGNC	.	.	UPI000006E3BA	SNV	LOH12CR1,5_prime_UTR_variant,,ENST00000314565,;LOH12CR1,5_prime_UTR_variant,,ENST00000298571,;LOH12CR1,intron_variant,,ENST00000542728,;LOH12CR2,upstream_gene_variant,,ENST00000381800,;LOH12CR1,non_coding_transcript_exon_variant,,ENST00000543990,;	302	50	37	SUCCESS
KCNA5	3741	.	GRCh37	12	5153812	5153812	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	87	0	ENST00000252321.3:c.499C>T	p.Arg167Cys	p.R167C	ENST00000252321	NM_002234.3	167	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS8536.1	499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGACCGCAAC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01496,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Arg167Cys,ENST00000252321,;	728	87	58	SUCCESS
SMARCC2	6601	.	GRCh37	12	56558092	56558093	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GT	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	27	0	ENST00000267064.4:c.3561_3562dup	p.Leu1188HisfsTer96	p.L1188Hfs*96	ENST00000267064	NM_003075.3	1188	ctg/cACtg	0	.	.	.	.	.	GT	L/HX	protein_coding	YES	CCDS8907.1	3562-3563	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGCAGTGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000267064	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	insertion	SMARCC2,frameshift_variant,p.Leu1188HisfsTer96,ENST00000267064,;SMARCC2,frameshift_variant,p.Leu1126HisfsTer96,ENST00000394023,;SMARCC2,frameshift_variant,p.Leu1219HisfsTer96,ENST00000550164,;SMARCC2,intron_variant,,ENST00000347471,;MYL6,downstream_gene_variant,,ENST00000547408,;MYL6,downstream_gene_variant,,ENST00000547649,;MYL6,downstream_gene_variant,,ENST00000548293,;MYL6,downstream_gene_variant,,ENST00000348108,;MYL6,downstream_gene_variant,,ENST00000549566,;MYL6,downstream_gene_variant,,ENST00000550697,;MYL6,downstream_gene_variant,,ENST00000549392,;MYL6,downstream_gene_variant,,ENST00000548580,;MYL6,downstream_gene_variant,,ENST00000549017,;MYL6,downstream_gene_variant,,ENST00000548400,;MYL6,downstream_gene_variant,,ENST00000293422,;MYL6,downstream_gene_variant,,ENST00000536128,;MYL6,downstream_gene_variant,,ENST00000551589,;RP11-977G19.5,intron_variant,,ENST00000553176,;MYL6B,downstream_gene_variant,,ENST00000548571,;MYL6,downstream_gene_variant,,ENST00000550639,;MYL6,downstream_gene_variant,,ENST00000552297,;MYL6,downstream_gene_variant,,ENST00000551954,;SMARCC2,intron_variant,,ENST00000552674,;MYL6,downstream_gene_variant,,ENST00000546630,;MYL6,downstream_gene_variant,,ENST00000550184,;MYL6,downstream_gene_variant,,ENST00000548725,;MYL6,downstream_gene_variant,,ENST00000546845,;MYL6,downstream_gene_variant,,ENST00000547703,;	3649-3650	27	28	SUCCESS
LRP1	4035	.	GRCh37	12	57573622	57573622	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	81	0	ENST00000243077.3:c.5024C>G	p.Thr1675Arg	p.T1675R	ENST00000243077	NM_002332.2	1675	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS8932.1	5024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACAAGCT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	30/89	.	.	.	.	.	.	.	.	.	30/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Thr1675Arg,ENST00000243077,;	5490	81	67	SUCCESS
TMTC4	84899	.	GRCh37	13	101322680	101322680	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	15	0	ENST00000376234.3:c.-54-1632T>C		p.*18*	ENST00000376234	NM_001079669.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9497.2	.	RADIA|MUSE	.	AGATGAAACAG	NONE	.	.	.	.	.	ENSP00000343871	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000342624	Transcript	.	.	ENSG00000125247	25904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMTC4_HUMAN	TMTC4	HGNC	C9K0R2_HUMAN	.	UPI000004B63E	SNV	TMTC4,5_prime_UTR_variant,,ENST00000475272,;TMTC4,5_prime_UTR_variant,,ENST00000423847,;TMTC4,5_prime_UTR_variant,,ENST00000342624,;TMTC4,intron_variant,,ENST00000376234,;TMTC4,intron_variant,,ENST00000328767,;TMTC4,non_coding_transcript_exon_variant,,ENST00000480433,;TMTC4,intron_variant,,ENST00000440120,;	196	15	19	SUCCESS
NBEA	26960	.	GRCh37	13	36239245	36239245	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368581341	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	48	253	0	ENST00000400445.3:c.8323G>A	p.Val2775Ile	p.V2775I	ENST00000400445	NM_015678.4	2775	Gtc/Atc	0	A:0	.	.	.	.	A	V/I	protein_coding	YES	CCDS45026.1	8323	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGTCCTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	A:0.0001	ENSP00000383295	.	55/58	.	.	.	.	.	.	.	.	rs368581341	55/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(1)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Val353Ile,ENST00000379922,;NBEA,missense_variant,p.Val2775Ile,ENST00000400445,;NBEA,missense_variant,p.Val2775Ile,ENST00000540320,;NBEA,missense_variant,p.Val2775Ile,ENST00000310336,;NBEA,missense_variant,p.Val568Ile,ENST00000537702,;NBEA,missense_variant,p.Val2772Ile,ENST00000379939,;	8857	253	159	SUCCESS
SPG20	0	.	GRCh37	13	36909272	36909272	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs770560051	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	55	0	ENST00000451493.1:c.696del	p.Phe232LeufsTer2	p.F232Lfs*2	ENST00000451493	NM_001142295.1	232	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS9356.1	696	INDELOCATOR|VARSCANI	.	ATTTACAAAAAA	NONE	.	.	hmmpanther:PTHR21068:SF20,hmmpanther:PTHR21068	.	.	ENSP00000414147	.	2/9	.	.	.	.	.	.	.	.	rs778573943	2/9	PASS	ENST00000451493	Transcript	.	.	ENSG00000133104	18514	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPG20_HUMAN	SPG20	HGNC	.	.	UPI000006F5EE	deletion	SPG20,frameshift_variant,p.Phe232LeufsTer2,ENST00000451493,;SPG20,frameshift_variant,p.Phe232LeufsTer2,ENST00000494062,;SPG20,frameshift_variant,p.Phe232LeufsTer2,ENST00000355182,;SPG20,frameshift_variant,p.Phe232LeufsTer2,ENST00000438666,;SPG20,non_coding_transcript_exon_variant,,ENST00000495510,;SPG20,downstream_gene_variant,,ENST00000476377,;SPG20,downstream_gene_variant,,ENST00000494703,;	914	55	49	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102494143	102494143	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	80	0	ENST00000360184.4:c.9236C>A	p.Ala3079Glu	p.A3079E	ENST00000360184	NM_001376.4	3079	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS9966.1	9236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCAGCTA	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000348965	.	47/78	.	.	.	.	.	.	.	.	.	47/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Ala3079Glu,ENST00000360184,;DYNC1H1,downstream_gene_variant,,ENST00000555204,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000554854,;	9400	80	52	SUCCESS
ZNF839	55778	.	GRCh37	14	102805186	102805186	+	synonymous_variant	Silent	SNP	C	C	A	rs535523717	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	34	200	0	ENST00000558850.1:c.1345C>A	p.Arg449=	p.R449=	ENST00000558850	NM_001267827.1	449	Cgg/Agg	0	.	T:0.0008	.	T:0	.	A	R	protein_coding	YES	CCDS45164.1	1693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTACGGAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR16116	T:0	.	ENSP00000399863	T:0	6/8	.	.	.	.	.	.	.	.	rs535523717	6/8	PASS	ENST00000442396	Transcript	.	T:0.0002	ENSG00000022976	20345	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN839_HUMAN	ZNF839	HGNC	H0YKY1_HUMAN,B3KWS2_HUMAN	.	UPI0001596890	SNV	ZNF839,synonymous_variant,p.%3D,ENST00000558490,;ZNF839,synonymous_variant,p.%3D,ENST00000559155,;ZNF839,synonymous_variant,p.%3D,ENST00000561251,;ZNF839,synonymous_variant,p.%3D,ENST00000558850,;ZNF839,synonymous_variant,p.%3D,ENST00000559185,;ZNF839,synonymous_variant,p.%3D,ENST00000442396,;ZNF839,synonymous_variant,p.%3D,ENST00000560112,;ZNF839,synonymous_variant,p.%3D,ENST00000558462,;ZNF839,synonymous_variant,p.%3D,ENST00000262236,;ZNF839,downstream_gene_variant,,ENST00000560568,;AL137229.1,upstream_gene_variant,,ENST00000577622,;ZNF839,non_coding_transcript_exon_variant,,ENST00000420933,;ZNF839,3_prime_UTR_variant,,ENST00000559098,;ZNF839,non_coding_transcript_exon_variant,,ENST00000557803,;CINP,downstream_gene_variant,,ENST00000559514,;CINP,downstream_gene_variant,,ENST00000559504,;	1708	200	139	SUCCESS
ZBTB42	100128927	.	GRCh37	14	105267670	105267670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	53	0	ENST00000342537.7:c.136A>G	p.Ser46Gly	p.S46G	ENST00000342537	NM_001137601.1	46	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS45174.1	136	RADIA|VARSCANS	.	CGTGCAGCGTC	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF409,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000409107	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342537	Transcript	.	.	ENSG00000179627	32550	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ZBT42_HUMAN	ZBTB42	HGNC	.	.	UPI0001849D48	SNV	ZBTB42,missense_variant,p.Ser46Gly,ENST00000342537,;ZBTB42,missense_variant,p.Ser46Gly,ENST00000555360,;	421	53	26	SUCCESS
OR4K14	122740	.	GRCh37	14	20483233	20483233	+	synonymous_variant	Silent	SNP	C	C	A	rs777014610	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	70	270	0	ENST00000305045.2:c.120G>T	p.Leu40=	p.L40=	ENST00000305045	NM_001004712.1	40	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32027.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCAGCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF31,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000305011	.	1/1	.	.	.	.	.	.	.	.	rs777014610	1/1	PASS	ENST00000305045	Transcript	.	.	ENSG00000169484	15352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4KE_HUMAN	OR4K14	HGNC	.	.	UPI0000041CED	SNV	OR4K14,synonymous_variant,p.%3D,ENST00000305045,;	120	270	210	SUCCESS
GPR68	8111	.	GRCh37	14	91700499	91700499	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs969683832	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	34	0	ENST00000531499.2:c.896G>A	p.Arg299His	p.R299H	ENST00000531499		299	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9894.2	896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGGGCC	NONE	.	.	hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF5,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000434045	.	2/2	.	.	.	.	.	.	.	.	COSM1371514	2/2	PASS	ENST00000531499	Transcript	.	.	ENSG00000119714	4519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.174)	.	deleterious(0.03)	1	OGR1_HUMAN	GPR68	HGNC	E9PNU7_HUMAN	.	UPI000005042A	SNV	GPR68,missense_variant,p.Arg299His,ENST00000535815,;GPR68,missense_variant,p.Arg299His,ENST00000531499,;GPR68,missense_variant,p.Arg299His,ENST00000529102,;GPR68,missense_variant,p.Arg309His,ENST00000238699,;GPR68,downstream_gene_variant,,ENST00000529300,;	1236	34	26	SUCCESS
SLC24A4	123041	.	GRCh37	14	92911658	92911658	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	456	85	629	0	ENST00000532405.1:c.658-3C>G		p.X220_splice	ENST00000532405		220		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9903.2	.	RADIA|MUSE|VARSCANS	.	CCTTACAGTTC	NONE	.	.	.	.	.	ENSP00000431840	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000532405	Transcript	1	.	ENSG00000140090	10978	.	.	LOW	7/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCKX4_HUMAN	SLC24A4	HGNC	G3V505_HUMAN,B4DHR5_HUMAN	.	UPI000044C5DE	SNV	SLC24A4,splice_region_variant,,ENST00000393265,;SLC24A4,splice_region_variant,,ENST00000532405,;SLC24A4,splice_region_variant,,ENST00000531433,;SLC24A4,splice_region_variant,,ENST00000525557,;SLC24A4,splice_region_variant,,ENST00000298877,;SLC24A4,splice_region_variant,,ENST00000351924,;SLC24A4,downstream_gene_variant,,ENST00000554461,;SLC24A4,upstream_gene_variant,,ENST00000556739,;SLC24A4,splice_region_variant,,ENST00000554925,;	.	629	542	SUCCESS
RYR3	6263	.	GRCh37	15	33855056	33855056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	110	0	ENST00000389232.4:c.991G>T	p.Asp331Tyr	p.D331Y	ENST00000389232	NM_001036.3	331	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS45210.1	991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTAGACTCC	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000373884	.	11/104	.	.	.	.	.	.	.	.	.	11/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Asp331Tyr,ENST00000389232,;RYR3,missense_variant,p.Asp331Tyr,ENST00000415757,;	1061	110	77	SUCCESS
SECISBP2L	9728	.	GRCh37	15	49320786	49320786	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	42	198	0	ENST00000559471.1:c.758C>G	p.Pro253Arg	p.P253R	ENST00000559471	NM_001193489.1	253	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS53942.1	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAGGGTGG	NONE	.	.	hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10	.	.	ENSP00000453854	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000559471	Transcript	.	.	ENSG00000138593	28997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious_low_confidence(0)	.	SBP2L_HUMAN	SECISBP2L	HGNC	J3KPI1_HUMAN	.	UPI00001C1F8B	SNV	SECISBP2L,missense_variant,p.Pro253Arg,ENST00000261847,;SECISBP2L,missense_variant,p.Pro253Arg,ENST00000559471,;SECISBP2L,missense_variant,p.Pro15Arg,ENST00000380927,;SECISBP2L,intron_variant,,ENST00000559424,;	1022	198	125	SUCCESS
CCPG1	9236	.	GRCh37	15	55664085	55664085	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	30	233	0	ENST00000310958.6:c.612G>A	p.Lys204=	p.K204=	ENST00000310958	NM_001204451.1	204	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS55966.1	612	RADIA|MUTECT|MUSE|VARSCANS	.	AACTCCTTAGA	NONE	.	.	.	.	.	ENSP00000403400	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000442196	Transcript	.	.	ENSG00000260916	24227	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCPG1_HUMAN	CCPG1	HGNC	H3BTZ1_HUMAN,H3BR24_HUMAN	.	UPI0000D61347	SNV	CCPG1,synonymous_variant,p.%3D,ENST00000310958,;CCPG1,synonymous_variant,p.%3D,ENST00000425574,;CCPG1,synonymous_variant,p.%3D,ENST00000442196,;CCPG1,synonymous_variant,p.%3D,ENST00000563171,;CCPG1,synonymous_variant,p.%3D,ENST00000569205,;CCPG1,downstream_gene_variant,,ENST00000570272,;MIR628,downstream_gene_variant,,ENST00000385229,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;CCPG1,3_prime_UTR_variant,,ENST00000568808,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;	660	233	180	SUCCESS
IGDCC3	9543	.	GRCh37	15	65621487	65621487	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	46	0	ENST00000327987.4:c.2206-1G>T		p.X736_splice	ENST00000327987	NM_004884.3	736		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10205.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCTGGGG	NONE	.	.	.	.	.	ENSP00000332773	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	HIGH	13/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,splice_acceptor_variant,,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	.	46	40	SUCCESS
USP31	57478	.	GRCh37	16	23080459	23080459	+	synonymous_variant	Silent	SNP	G	G	T	rs201814190	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	47	0	ENST00000219689.7:c.2967C>A	p.Ile989=	p.I989=	ENST00000219689	NM_020718.3	989	atC/atA	0	.	A:0.0008	.	A:0	.	T	I	protein_coding	YES	CCDS10607.1	2967	RADIA|MUSE|VARSCANS	.	TAAGCGATCTG	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000219689	A:0	16/16	.	.	.	.	.	.	.	.	rs201814190,COSM235551	16/16	oxog	ENST00000219689	Transcript	.	A:0.0002	ENSG00000103404	20060	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0	.	0,1	UBP31_HUMAN	USP31	HGNC	.	.	UPI0000366B06	SNV	USP31,synonymous_variant,p.%3D,ENST00000219689,;USP31,synonymous_variant,p.%3D,ENST00000567975,;RP11-20G6.3,upstream_gene_variant,,ENST00000563129,;USP31,non_coding_transcript_exon_variant,,ENST00000381162,;	2967	47	25	SUCCESS
ABCA3	21	.	GRCh37	16	2339468	2339468	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	98	0	ENST00000301732.5:c.2667G>A	p.Glu889=	p.E889=	ENST00000301732	NM_001089.2	889	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS10466.1	2667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCTCGAT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98	.	.	ENSP00000301732	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,synonymous_variant,p.%3D,ENST00000382381,;ABCA3,synonymous_variant,p.%3D,ENST00000301732,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	3368	98	59	SUCCESS
XPO6	23214	.	GRCh37	16	28167437	28167437	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs369899782	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	341	164	733	1	ENST00000304658.5:c.1055A>T	p.Asn352Ile	p.N352I	ENST00000304658	NM_015171.3	352	aAt/aTt	0	C:0.0003	.	.	.	.	A	N/I	protein_coding	YES	CCDS42135.1	1055	RADIA|SOMATICSNIPER|VARSCANS	.	GGGCATTGTTA	NONE	byCluster	.	Gene3D:1.25.10.10,hmmpanther:PTHR21452	.	C:0	ENSP00000302790	.	7/24	.	.	.	.	.	.	.	.	rs369899782	7/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.491)	.	deleterious(0.01)	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,missense_variant,p.Asn352Ile,ENST00000304658,;XPO6,missense_variant,p.Asn189Ile,ENST00000574435,;XPO6,missense_variant,p.Asn338Ile,ENST00000565698,;XPO6,non_coding_transcript_exon_variant,,ENST00000561488,;XPO6,upstream_gene_variant,,ENST00000564337,;XPO6,downstream_gene_variant,,ENST00000573645,;XPO6,downstream_gene_variant,,ENST00000569973,;XPO6,start_lost,p.Asn1?,ENST00000566175,;XPO6,upstream_gene_variant,,ENST00000565284,;XPO6,upstream_gene_variant,,ENST00000570294,;	1556	734	506	SUCCESS
GDPD3	79153	.	GRCh37	16	30124047	30124047	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761529339	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	48	0	ENST00000406256.3:c.250G>A	p.Val84Met	p.V84M	ENST00000406256	NM_024307.2	84	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS10671.2	250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACACCACCA	NONE	.	.	PROSITE_profiles:PS51704,hmmpanther:PTHR23344:SF12,hmmpanther:PTHR23344,Pfam_domain:PF03009,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000384363	.	3/10	.	.	.	.	.	.	.	.	rs761529339	3/10	PASS	ENST00000406256	Transcript	.	.	ENSG00000102886	28638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	GDPD3_HUMAN	GDPD3	HGNC	.	.	UPI00001FFEC4	SNV	GDPD3,missense_variant,p.Val84Met,ENST00000406256,;MAPK3,downstream_gene_variant,,ENST00000395202,;MAPK3,downstream_gene_variant,,ENST00000263025,;MAPK3,downstream_gene_variant,,ENST00000484663,;GDPD3,upstream_gene_variant,,ENST00000566613,;MAPK3,downstream_gene_variant,,ENST00000322266,;MAPK3,downstream_gene_variant,,ENST00000478356,;MAPK3,downstream_gene_variant,,ENST00000395200,;MAPK3,downstream_gene_variant,,ENST00000395199,;MAPK3,downstream_gene_variant,,ENST00000403394,;RP11-455F5.4,downstream_gene_variant,,ENST00000566190,;MAPK3,downstream_gene_variant,,ENST00000494643,;GDPD3,non_coding_transcript_exon_variant,,ENST00000360688,;MAPK3,downstream_gene_variant,,ENST00000473431,;MAPK3,downstream_gene_variant,,ENST00000466521,;MAPK3,downstream_gene_variant,,ENST00000461737,;MAPK3,downstream_gene_variant,,ENST00000485579,;MAPK3,downstream_gene_variant,,ENST00000490298,;GDPD3,upstream_gene_variant,,ENST00000565704,;GDPD3,upstream_gene_variant,,ENST00000566434,;	628	48	34	SUCCESS
ZNF75A	7627	.	GRCh37	16	3367499	3367499	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	56	207	0	ENST00000574298.1:c.521C>G	p.Ser174Cys	p.S174C	ENST00000574298	NM_153028.2	174	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS10501.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTCTGACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF11,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000459566	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000574298	Transcript	.	.	ENSG00000162086	13146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ZN75A_HUMAN	ZNF75A	HGNC	I3L2I5_HUMAN	.	UPI0000071E9B	SNV	ZNF75A,missense_variant,p.Ser174Cys,ENST00000574298,;ZNF75A,downstream_gene_variant,,ENST00000572999,;ZNF75A,non_coding_transcript_exon_variant,,ENST00000498240,;ZNF75A,downstream_gene_variant,,ENST00000571101,;ZNF75A,downstream_gene_variant,,ENST00000575253,;	994	207	186	SUCCESS
FOXL1	2300	.	GRCh37	16	86612739	86612739	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	51	0	ENST00000320241.3:c.410A>C	p.Asn137Thr	p.N137T	ENST00000320241	NM_005250.2	137	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS10959.1	410	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAACTACC	NONE	.	.	Superfamily_domains:SSF46785,SMART_domains:SM00339,Pfam_domain:PF00250,hmmpanther:PTHR11829:SF52,hmmpanther:PTHR11829,PROSITE_profiles:PS50039	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,missense_variant,p.Asn137Thr,ENST00000320241,;FOXL1,downstream_gene_variant,,ENST00000593625,;	625	51	75	SUCCESS
FOXL1	2300	.	GRCh37	16	86612753	86612753	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	43	0	ENST00000320241.3:c.424A>G	p.Lys142Glu	p.K142E	ENST00000320241	NM_005250.2	142	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10959.1	424	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGAAGAGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF46785,Pfam_domain:PF00250,hmmpanther:PTHR11829:SF52,hmmpanther:PTHR11829,PROSITE_profiles:PS50039	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,missense_variant,p.Lys142Glu,ENST00000320241,;FOXL1,downstream_gene_variant,,ENST00000593625,;	639	43	54	SUCCESS
TUBB8P7	197331	.	GRCh37	16	90161594	90161594	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs546128150	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	245	47	463	0	ENST00000564451.1:n.947G>T		p.*316*	ENST00000564451				0	.	A:0.0008	.	A:0.0014	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGGAGCT	BUFFER|p.M113T|c.338T>C|3	byFrequency|by1000G	.	.	A:0	.	.	A:0	3/3	.	.	.	.	.	.	.	.	rs546128150,COSM148140	3/3	PASS	ENST00000564451	Transcript	.	A:0.0004	ENSG00000261812	42345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0	.	0,1	.	TUBB8P7	HGNC	.	.	.	SNV	TUBB8P7,non_coding_transcript_exon_variant,,ENST00000564451,;TUBB8P7,non_coding_transcript_exon_variant,,ENST00000563927,;TUBB8P7,non_coding_transcript_exon_variant,,ENST00000567207,;PRDM7,upstream_gene_variant,,ENST00000569206,;TUBB8P7,synonymous_variant,p.%3D,ENST00000567960,;	947	463	293	SUCCESS
TOM1L2	146691	.	GRCh37	17	17801962	17801962	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	111	285	1	ENST00000379504.3:c.164A>G	p.Lys55Arg	p.K55R	ENST00000379504	NM_001082968.1	55	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS42270.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTTCAGG	NONE	.	.	PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF31,hmmpanther:PTHR13856,Gene3D:1.25.40.90,Pfam_domain:PF00790,SMART_domains:SM00288,PIRSF_domain:PIRSF036948,Superfamily_domains:SSF48464	.	.	ENSP00000368818	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000379504	Transcript	.	.	ENSG00000175662	11984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.15)	.	TM1L2_HUMAN	TOM1L2	HGNC	K7ENB0_HUMAN	.	UPI00001C09C6	SNV	TOM1L2,missense_variant,p.Lys55Arg,ENST00000540946,;TOM1L2,missense_variant,p.Lys55Arg,ENST00000542206,;TOM1L2,missense_variant,p.Lys55Arg,ENST00000395739,;TOM1L2,missense_variant,p.Lys55Arg,ENST00000379504,;TOM1L2,missense_variant,p.Lys55Arg,ENST00000581396,;TOM1L2,missense_variant,p.Lys55Arg,ENST00000318094,;TOM1L2,missense_variant,p.Lys22Arg,ENST00000579586,;TOM1L2,missense_variant,p.Lys55Arg,ENST00000535933,;TOM1L2,non_coding_transcript_exon_variant,,ENST00000537091,;	248	286	273	SUCCESS
SPECC1	92521	.	GRCh37	17	20107661	20107661	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	96	0	ENST00000261503.5:c.299C>G	p.Thr100Ser	p.T100S	ENST00000261503	NM_001033553.2	100	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS32590.1	299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAACTAAAC	NONE	.	.	hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.44)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Thr100Ser,ENST00000395527,;SPECC1,missense_variant,p.Thr19Ser,ENST00000395522,;SPECC1,missense_variant,p.Thr100Ser,ENST00000583463,;SPECC1,missense_variant,p.Thr19Ser,ENST00000395525,;SPECC1,missense_variant,p.Thr100Ser,ENST00000581973,;SPECC1,missense_variant,p.Thr100Ser,ENST00000261503,;SPECC1,missense_variant,p.Thr100Ser,ENST00000395529,;SPECC1,missense_variant,p.Thr100Ser,ENST00000583482,;SPECC1,missense_variant,p.Thr19Ser,ENST00000395530,;SPECC1,intron_variant,,ENST00000536879,;SPECC1,upstream_gene_variant,,ENST00000582226,;SPECC1,upstream_gene_variant,,ENST00000581399,;SPECC1,upstream_gene_variant,,ENST00000584527,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,non_coding_transcript_exon_variant,,ENST00000582063,;SPECC1,non_coding_transcript_exon_variant,,ENST00000579688,;SPECC1,non_coding_transcript_exon_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,intron_variant,,ENST00000467722,;	350	96	58	SUCCESS
CRYBA1	1411	.	GRCh37	17	27580737	27580737	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	25	101	0	ENST00000225387.3:c.437C>T	p.Pro146Leu	p.P146L	ENST00000225387	NM_005208.4	146	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11249.1	437	RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCCTCCT	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF8,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695	.	.	ENSP00000225387	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000225387	Transcript	.	.	ENSG00000108255	2394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CRBA1_HUMAN	CRYBA1	HGNC	.	.	UPI00001283CF	SNV	CRYBA1,missense_variant,p.Pro146Leu,ENST00000225387,;NUFIP2,downstream_gene_variant,,ENST00000225388,;CRYBA1,3_prime_UTR_variant,,ENST00000484605,;	438	102	140	SUCCESS
ATAD5	79915	.	GRCh37	17	29192785	29192785	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776130286	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	57	258	0	ENST00000321990.4:c.3200T>C	p.Ile1067Thr	p.I1067T	ENST00000321990	NM_024857.3	1067	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS11260.1	3200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTATAGGAA	NONE	.	.	hmmpanther:PTHR15828:SF1,hmmpanther:PTHR15828,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000313171	.	11/23	.	.	.	.	.	.	.	.	rs776130286	11/23	PASS	ENST00000321990	Transcript	.	.	ENSG00000176208	25752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0)	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,missense_variant,p.Ile1067Thr,ENST00000321990,;RNU6-298P,downstream_gene_variant,,ENST00000390888,;CTD-2349P21.11,upstream_gene_variant,,ENST00000580873,;RP13-753N3.1,upstream_gene_variant,,ENST00000584157,;ATAD5,missense_variant,p.Ile1067Thr,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;	3578	258	210	SUCCESS
CD300LG	146894	.	GRCh37	17	41924620	41924620	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	96	0	ENST00000317310.4:c.36G>A	p.Leu12=	p.L12=	ENST00000317310	NM_145273.3	12	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11470.1	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGCTCCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF42	.	.	ENSP00000321005	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000317310	Transcript	.	.	ENSG00000161649	30455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM9_HUMAN	CD300LG	HGNC	.	.	UPI000013E104	SNV	CD300LG,synonymous_variant,p.%3D,ENST00000317310,;CD300LG,synonymous_variant,p.%3D,ENST00000293396,;CD300LG,synonymous_variant,p.%3D,ENST00000588884,;CD300LG,synonymous_variant,p.%3D,ENST00000586233,;CD300LG,synonymous_variant,p.%3D,ENST00000377203,;CD300LG,synonymous_variant,p.%3D,ENST00000539718,;	77	96	84	SUCCESS
WFIKKN2	124857	.	GRCh37	17	48913333	48913333	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761597315	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	118	0	ENST00000311378.4:c.35G>A	p.Arg12His	p.R12H	ENST00000311378	NM_175575.5	12	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11575.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCGCTGGG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF183	.	.	ENSP00000311184	.	1/2	.	.	.	.	.	.	.	.	rs761597315	1/2	PASS	ENST00000311378	Transcript	.	.	ENSG00000173714	30916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.22)	.	WFKN2_HUMAN	WFIKKN2	HGNC	C9J6G4_HUMAN	.	UPI000004139B	SNV	WFIKKN2,missense_variant,p.Arg12His,ENST00000311378,;WFIKKN2,intron_variant,,ENST00000426127,;RP11-506D12.5,downstream_gene_variant,,ENST00000572491,;	563	118	103	SUCCESS
SLC16A5	9121	.	GRCh37	17	73100204	73100204	+	synonymous_variant	Silent	SNP	G	G	C	rs141647560	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	32	168	0	ENST00000329783.4:c.1293G>C	p.Ala431=	p.A431=	ENST00000329783	NM_004695.3	431	gcG/gcC	0	A:0	.	.	.	.	C	A	protein_coding	YES	CCDS11713.1	1293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGGATGC	BUFFER|p.A431V|c.1292C>T|3,BUFFER|p.A431V|c.1292C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR11360:SF21,hmmpanther:PTHR11360,TIGRFAM_domain:TIGR00892	.	A:0.0003	ENSP00000390564	.	5/6	.	.	.	.	.	.	.	.	rs141647560,COSM1385918,COSM1385917	5/6	PASS	ENST00000450736	Transcript	.	.	ENSG00000170190	10926	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	MOT6_HUMAN	SLC16A5	HGNC	J3QQW5_HUMAN,J3QL40_HUMAN,J3KT93_HUMAN	.	UPI0000000DC7	SNV	SLC16A5,synonymous_variant,p.%3D,ENST00000329783,;SLC16A5,synonymous_variant,p.%3D,ENST00000450736,;SLC16A5,synonymous_variant,p.%3D,ENST00000580123,;SLC16A5,synonymous_variant,p.%3D,ENST00000578376,;SLC16A5,synonymous_variant,p.%3D,ENST00000538213,;SLC16A5,downstream_gene_variant,,ENST00000584118,;SLC16A5,downstream_gene_variant,,ENST00000584207,;SLC16A5,downstream_gene_variant,,ENST00000585293,;SLC16A5,downstream_gene_variant,,ENST00000582048,;	1708	168	119	SUCCESS
KDM6B	23135	.	GRCh37	17	7749921	7749921	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755801518	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	67	0	ENST00000448097.2:c.574C>T	p.Arg192Trp	p.R192W	ENST00000448097		192	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS32552.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCGGGGA	NONE	.	.	hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5	.	.	ENSP00000254846	.	8/22	.	.	.	.	.	.	.	.	rs755801518	8/22	PASS	ENST00000254846	Transcript	.	.	ENSG00000132510	29012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KDM6B_HUMAN	KDM6B	HGNC	D3DTQ7_HUMAN	.	UPI00006C175B	SNV	KDM6B,missense_variant,p.Arg192Trp,ENST00000448097,;KDM6B,missense_variant,p.Arg192Trp,ENST00000570632,;KDM6B,missense_variant,p.Arg192Trp,ENST00000254846,;KDM6B,downstream_gene_variant,,ENST00000575521,;KDM6B,downstream_gene_variant,,ENST00000571047,;	963	67	59	SUCCESS
MBD1	4152	.	GRCh37	18	47803368	47803368	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	146	0	ENST00000269468.5:c.226G>T	p.Ala76Ser	p.A76S	ENST00000269468	NM_015846.3	76	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS59320.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCCTGGA	NONE	.	.	hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF4,Gene3D:3.30.890.10,SMART_domains:SM00391,Superfamily_domains:SSF54171	.	.	ENSP00000468785	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000590208	Transcript	.	.	ENSG00000141644	6916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.16)	.	.	MBD1	HGNC	K7ESN0_HUMAN	.	UPI0001F995B6	SNV	MBD1,missense_variant,p.Ala76Ser,ENST00000588937,;MBD1,missense_variant,p.Ala76Ser,ENST00000587605,;MBD1,missense_variant,p.Ala76Ser,ENST00000269471,;MBD1,missense_variant,p.Ala76Ser,ENST00000585595,;MBD1,missense_variant,p.Ala76Ser,ENST00000347968,;MBD1,missense_variant,p.Ala76Ser,ENST00000269468,;MBD1,missense_variant,p.Ala76Ser,ENST00000591535,;MBD1,missense_variant,p.Ala76Ser,ENST00000398495,;MBD1,missense_variant,p.Ala76Ser,ENST00000590208,;MBD1,missense_variant,p.Ala76Ser,ENST00000339998,;MBD1,missense_variant,p.Ala76Ser,ENST00000398493,;MBD1,missense_variant,p.Ala76Ser,ENST00000585672,;MBD1,missense_variant,p.Ala76Ser,ENST00000457839,;MBD1,missense_variant,p.Ala76Ser,ENST00000436910,;MBD1,missense_variant,p.Ala76Ser,ENST00000353909,;MBD1,missense_variant,p.Ala76Ser,ENST00000349085,;MBD1,missense_variant,p.Ala76Ser,ENST00000382948,;MBD1,missense_variant,p.Ala76Ser,ENST00000591416,;MBD1,missense_variant,p.Ala76Ser,ENST00000398488,;MBD1,missense_variant,p.Ala102Ser,ENST00000424334,;MBD1,upstream_gene_variant,,ENST00000589733,;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,upstream_gene_variant,,ENST00000592060,;MBD1,splice_region_variant,,ENST00000589867,;MBD1,splice_region_variant,,ENST00000590215,;MBD1,splice_region_variant,,ENST00000586118,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,upstream_gene_variant,,ENST00000586679,;MBD1,downstream_gene_variant,,ENST00000589758,;MBD1,upstream_gene_variant,,ENST00000591661,;	573	147	118	SUCCESS
WDR7	23335	.	GRCh37	18	54349915	54349915	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	41	182	0	ENST00000254442.3:c.352del	p.Gln118SerfsTer35	p.Q118Sfs*35	ENST00000254442	NM_015285.2	117	taC/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS11962.1	351	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCTACCAGTT	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000254442	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000254442	Transcript	.	.	ENSG00000091157	13490	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WDR7_HUMAN	WDR7	HGNC	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN	.	UPI000013CE33	deletion	WDR7,frameshift_variant,p.Gln118SerfsTer35,ENST00000254442,;WDR7,frameshift_variant,p.Gln118SerfsTer35,ENST00000593058,;WDR7,frameshift_variant,p.Gln118SerfsTer35,ENST00000357574,;WDR7,intron_variant,,ENST00000589935,;	562	182	193	SUCCESS
SERPINB3	6317	.	GRCh37	18	61324552	61324552	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150385073	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	613	226	946	1	ENST00000283752.5:c.564G>T	p.Lys188Asn	p.K188N	ENST00000283752	NM_006919.2	188	aaG/aaT	0	A:0.0073	A:0.0113	.	A:0.0014	.	A	K/N	protein_coding	YES	CCDS11987.1	564	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTCTTCTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	A:0	A:0.0001	ENSP00000283752	A:0	6/8	.	.	.	.	.	.	.	.	rs150385073	6/8	common_in_exac	ENST00000283752	Transcript	.	A:0.0032	ENSG00000057149	10569	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	A:0	tolerated(0.38)	.	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,missense_variant,p.Lys188Asn,ENST00000332821,;SERPINB3,missense_variant,p.Lys188Asn,ENST00000283752,;SERPINB11,intron_variant,,ENST00000489748,;	708	947	840	SUCCESS
C3P1	388503	.	GRCh37	19	10157854	10157854	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	39	157	0	ENST00000497718.1:n.2256A>G		p.*752*	ENST00000497718				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGTTTG	NONE	.	.	.	.	.	.	.	17/37	.	.	.	.	.	.	.	.	.	17/37	PASS	ENST00000497718	Transcript	.	.	ENSG00000167798	34414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	C3P1	HGNC	.	.	.	SNV	C3P1,non_coding_transcript_exon_variant,,ENST00000495140,;C3P1,non_coding_transcript_exon_variant,,ENST00000497718,;	2256	157	185	SUCCESS
CSNK1G2	1455	.	GRCh37	19	1969726	1969726	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	366	173	240	0	ENST00000255641.8:c.-46del		p.*16*	ENST00000255641	NM_001319.6			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12077.1	.	VARSCANI*|PINDEL	.	GGATTTGCACGG	NONE	.	.	.	.	.	ENSP00000255641	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000255641	Transcript	.	.	ENSG00000133275	2455	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KC1G2_HUMAN	CSNK1G2	HGNC	.	.	UPI00000015E2	deletion	CSNK1G2,5_prime_UTR_variant,,ENST00000255641,;CSNK1G2,5_prime_UTR_variant,,ENST00000591752,;CSNK1G2,5_prime_UTR_variant,,ENST00000589350,;CSNK1G2,upstream_gene_variant,,ENST00000589385,;	450	240	539	SUCCESS
RP11-420K14.6	0	.	GRCh37	19	21933647	21933647	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	11	0	ENST00000596710.1:n.99C>A		p.*33*	ENST00000596710				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42538.1	.	SOMATICSNIPER|MUTECT	.	ACGCCCCATGG	NONE	.	.	.	.	.	ENSP00000351042	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358296	Transcript	.	.	ENSG00000197020	12880	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN100_HUMAN	ZNF100	HGNC	Q6MZN6_HUMAN	.	UPI00001614AC	SNV	ZNF100,intron_variant,,ENST00000598026,;ZNF100,intron_variant,,ENST00000358296,;ZNF100,upstream_gene_variant,,ENST00000594401,;ZNF100,upstream_gene_variant,,ENST00000305570,;AC092364.2,upstream_gene_variant,,ENST00000579465,;RP11-420K14.6,non_coding_transcript_exon_variant,,ENST00000596710,;ZNF100,downstream_gene_variant,,ENST00000596452,;RP11-420K14.6,upstream_gene_variant,,ENST00000597012,;	.	11	16	SUCCESS
ZNF675	171392	.	GRCh37	19	23836432	23836432	+	synonymous_variant	Silent	SNP	G	G	T	rs199957959	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	49	0	ENST00000359788.4:c.1303C>A	p.Arg435=	p.R435=	ENST00000359788	NM_138330.2	435	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32981.1	1303	RADIA|MUSE|VARSCANS	.	GGATCGGTTAA	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000352836	.	4/4	.	.	.	.	.	.	.	.	rs199957959	4/4	oxog	ENST00000359788	Transcript	.	.	ENSG00000197372	30768	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,synonymous_variant,p.%3D,ENST00000359788,;ZNF675,intron_variant,,ENST00000601935,;ZNF675,intron_variant,,ENST00000596211,;ZNF675,intron_variant,,ENST00000600313,;ZNF675,downstream_gene_variant,,ENST00000601010,;ZNF675,downstream_gene_variant,,ENST00000599535,;ZNF675,non_coding_transcript_exon_variant,,ENST00000600299,;ZNF675,downstream_gene_variant,,ENST00000597074,;	1472	49	32	SUCCESS
KMT2B	9757	.	GRCh37	19	36229093	36229093	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	101	0	ENST00000222270.7:c.7872+1G>T		p.X2624_splice	ENST00000222270	NM_014727.1	2624		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46055.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGTGGGC	NONE	.	.	.	.	.	ENSP00000222270	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	HIGH	36/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,splice_donor_variant,,ENST00000420124,;KMT2B,splice_donor_variant,,ENST00000222270,;U2AF1L4,downstream_gene_variant,,ENST00000378975,;IGFLR1,downstream_gene_variant,,ENST00000586140,;IGFLR1,downstream_gene_variant,,ENST00000246532,;IGFLR1,downstream_gene_variant,,ENST00000344990,;U2AF1L4,downstream_gene_variant,,ENST00000292879,;IGFLR1,downstream_gene_variant,,ENST00000591748,;U2AF1L4,downstream_gene_variant,,ENST00000412391,;IGFLR1,downstream_gene_variant,,ENST00000588992,;IGFLR1,downstream_gene_variant,,ENST00000592889,;IGFLR1,downstream_gene_variant,,ENST00000592537,;IGFLR1,downstream_gene_variant,,ENST00000591277,;KMT2B,splice_donor_variant,,ENST00000607650,;IGFLR1,downstream_gene_variant,,ENST00000587101,;KMT2B,splice_donor_variant,,ENST00000586308,;KMT2B,splice_donor_variant,,ENST00000585476,;U2AF1L4,downstream_gene_variant,,ENST00000585554,;U2AF1L4,downstream_gene_variant,,ENST00000591084,;U2AF1L4,downstream_gene_variant,,ENST00000586476,;U2AF1L4,downstream_gene_variant,,ENST00000587987,;U2AF1L4,downstream_gene_variant,,ENST00000600296,;KMT2B,downstream_gene_variant,,ENST00000592092,;U2AF1L4,downstream_gene_variant,,ENST00000590135,;U2AF1L4,downstream_gene_variant,,ENST00000594792,;IGFLR1,downstream_gene_variant,,ENST00000588018,;U2AF1L4,downstream_gene_variant,,ENST00000592913,;U2AF1L4,downstream_gene_variant,,ENST00000591057,;IGFLR1,downstream_gene_variant,,ENST00000589175,;U2AF1L4,downstream_gene_variant,,ENST00000589429,;AD000671.6,downstream_gene_variant,,ENST00000589807,;U2AF1L4,downstream_gene_variant,,ENST00000591855,;U2AF1L4,downstream_gene_variant,,ENST00000588892,;U2AF1L4,downstream_gene_variant,,ENST00000588980,;IGFLR1,downstream_gene_variant,,ENST00000592693,;	.	101	40	SUCCESS
ZNF585B	92285	.	GRCh37	19	37677107	37677107	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	57	224	0	ENST00000532828.2:c.1332G>A	p.Gly444=	p.G444=	ENST00000532828	NM_152279.3	444	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12500.1	1332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCCCACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000433773	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000532828	Transcript	.	.	ENSG00000245680	30948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z585B_HUMAN	ZNF585B	HGNC	E9PQH3_HUMAN,B3KRH5_HUMAN	.	UPI00001AF01B	SNV	ZNF585B,synonymous_variant,p.%3D,ENST00000312908,;ZNF585B,synonymous_variant,p.%3D,ENST00000531805,;ZNF585B,synonymous_variant,p.%3D,ENST00000532828,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000586320,;ZNF585B,downstream_gene_variant,,ENST00000591492,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	1584	224	185	SUCCESS
ADCK4	0	.	GRCh37	19	41206291	41206291	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749674752	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	94	0	ENST00000324464.3:c.959G>T	p.Arg320Leu	p.R320L	ENST00000324464	NM_024876.3	320	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS12562.1	959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCGTGTC	NONE	byFrequency	.	Superfamily_domains:SSF56112,hmmpanther:PTHR10566:SF22,hmmpanther:PTHR10566	.	.	ENSP00000315118	.	11/15	.	.	.	.	.	.	.	.	rs749674752	11/15	PASS	ENST00000324464	Transcript	1	.	ENSG00000123815	19041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	ADCK4_HUMAN	ADCK4	HGNC	M0R3F7_HUMAN,M0R340_HUMAN,M0R307_HUMAN,M0R011_HUMAN,M0R001_HUMAN,M0QZZ2_HUMAN	.	UPI0000071B0F	SNV	ADCK4,missense_variant,p.Arg279Leu,ENST00000243583,;ADCK4,missense_variant,p.Arg320Leu,ENST00000324464,;ADCK4,missense_variant,p.Arg279Leu,ENST00000450541,;ADCK4,downstream_gene_variant,,ENST00000594084,;ADCK4,downstream_gene_variant,,ENST00000594720,;ADCK4,downstream_gene_variant,,ENST00000600080,;ADCK4,downstream_gene_variant,,ENST00000594490,;ADCK4,downstream_gene_variant,,ENST00000595254,;ADCK4,downstream_gene_variant,,ENST00000601967,;ADCK4,non_coding_transcript_exon_variant,,ENST00000593724,;ADCK4,downstream_gene_variant,,ENST00000601451,;ADCK4,downstream_gene_variant,,ENST00000601304,;ADCK4,downstream_gene_variant,,ENST00000593544,;ADCK4,downstream_gene_variant,,ENST00000599643,;ADCK4,downstream_gene_variant,,ENST00000596455,;	1261	94	72	SUCCESS
CD177	57126	.	GRCh37	19	43858024	43858024	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	132	0	ENST00000457794.2:c.72C>G	p.Cys24Trp	p.C24W	ENST00000457794		24	tgC/tgG	0	.	.	.	.	.	G	C/W	nonsense_mediated_decay	YES	.	72	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCCAGTT	NONE	.	.	hmmpanther:PTHR16529:SF8,hmmpanther:PTHR16529	.	.	ENSP00000388794	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000457794	Transcript	.	.	ENSG00000204936	30072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD177_HUMAN	CD177	HGNC	.	.	UPI000013C4F9	SNV	CD177,missense_variant,p.Cys24Trp,ENST00000378009,;CD177,missense_variant,p.Cys24Trp,ENST00000378012,;CD177,missense_variant,p.Cys24Trp,ENST00000457794,;CD177,non_coding_transcript_exon_variant,,ENST00000607855,;CD177,missense_variant,p.Cys24Trp,ENST00000607517,;	72	132	88	SUCCESS
FBXO46	23403	.	GRCh37	19	46216794	46216794	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	36	182	0	ENST00000317683.3:c.-41A>C		p.*14*	ENST00000317683	NM_001080469.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46116.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCTCAGGA	NONE	.	.	.	.	.	ENSP00000410007	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317683	Transcript	.	.	ENSG00000177051	25069	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX46_HUMAN	FBXO46	HGNC	K7ERN4_HUMAN	.	UPI00002026A5	SNV	FBXO46,5_prime_UTR_variant,,ENST00000591686,;FBXO46,5_prime_UTR_variant,,ENST00000586899,;FBXO46,5_prime_UTR_variant,,ENST00000317683,;	94	182	139	SUCCESS
PPFIA3	8541	.	GRCh37	19	49636569	49636569	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	23	140	0	ENST00000334186.4:c.1102G>A	p.Ala368Thr	p.A368T	ENST00000334186	NM_003660.3	368	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12758.1	1102	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGCGGAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4	.	.	ENSP00000335614	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000334186	Transcript	.	.	ENSG00000177380	9247	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.21)	.	deleterious(0.01)	.	LIPA3_HUMAN	PPFIA3	HGNC	R4GNF1_HUMAN	.	UPI00001AE464	SNV	PPFIA3,missense_variant,p.Ala368Thr,ENST00000334186,;PPFIA3,missense_variant,p.Ala368Thr,ENST00000602351,;PPFIA3,downstream_gene_variant,,ENST00000602509,;PPFIA3,missense_variant,p.Ala368Thr,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602716,;PPFIA3,downstream_gene_variant,,ENST00000602726,;PPFIA3,downstream_gene_variant,,ENST00000602492,;	1451	140	146	SUCCESS
PTPRS	5802	.	GRCh37	19	5216748	5216748	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753417682	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	260	63	399	0	ENST00000357368.4:c.4079C>T	p.Pro1360Leu	p.P1360L	ENST00000357368	NM_002850.3	1360	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS45930.1	4079	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGGCTCC	NONE	.	.	hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134	.	.	ENSP00000349932	.	26/38	.	.	.	.	.	.	.	.	rs753417682	26/38	PASS	ENST00000357368	Transcript	.	.	ENSG00000105426	9681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.08)	.	PTPRS_HUMAN	PTPRS	HGNC	K7ESP0_HUMAN,K7ERX4_HUMAN	.	UPI000059D63E	SNV	PTPRS,missense_variant,p.Pro1360Leu,ENST00000587303,;PTPRS,missense_variant,p.Pro1361Leu,ENST00000372412,;PTPRS,missense_variant,p.Pro1360Leu,ENST00000357368,;PTPRS,intron_variant,,ENST00000353284,;PTPRS,intron_variant,,ENST00000588012,;PTPRS,intron_variant,,ENST00000262963,;PTPRS,intron_variant,,ENST00000592099,;PTPRS,intron_variant,,ENST00000348075,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;PTPRS,intron_variant,,ENST00000589851,;	4313	399	324	SUCCESS
PGD	5226	.	GRCh37	1	10471547	10471547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	48	159	0	ENST00000270776.8:c.592A>T	p.Ile198Phe	p.I198F	ENST00000270776	NM_002631.2	198	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS113.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGATCTGT	NONE	.	.	hmmpanther:PTHR11811,Gene3D:1.10.1040.10,TIGRFAM_domain:TIGR00873,Pfam_domain:PF00393,PIRSF_domain:PIRSF000109,Superfamily_domains:SSF48179	.	.	ENSP00000270776	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000270776	Transcript	.	.	ENSG00000142657	8891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	6PGD_HUMAN	PGD	HGNC	K7EMN2_HUMAN,K7EM49_HUMAN,B4DV68_HUMAN,B4DQJ8_HUMAN	.	UPI0000169DB9	SNV	PGD,missense_variant,p.Ile198Phe,ENST00000270776,;PGD,missense_variant,p.Ile185Phe,ENST00000538557,;PGD,missense_variant,p.Ile176Phe,ENST00000541529,;PGD,missense_variant,p.Ile185Phe,ENST00000491493,;PGD,missense_variant,p.Ile173Phe,ENST00000460189,;PGD,missense_variant,p.Ile53Phe,ENST00000483936,;PGD,downstream_gene_variant,,ENST00000465632,;PGD,upstream_gene_variant,,ENST00000498356,;PGD,upstream_gene_variant,,ENST00000493288,;	630	159	127	SUCCESS
KCNA10	3744	.	GRCh37	1	111061042	111061042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	37	0	ENST00000369771.2:c.368A>G	p.Asp123Gly	p.D123G	ENST00000369771	NM_005549.2	123	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS826.1	368	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGTCAAAG	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF44,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01496	.	.	ENSP00000358786	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369771	Transcript	.	.	ENSG00000143105	6219	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCA10_HUMAN	KCNA10	HGNC	Q7KYZ7_HUMAN	.	UPI0000071B2B	SNV	KCNA10,missense_variant,p.Asp123Gly,ENST00000369771,;	756	37	24	SUCCESS
PRAMEF18	391003	.	GRCh37	1	13475005	13475005	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376569101	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	505	172	1056	0	ENST00000376126.2:c.1124G>A	p.Arg375His	p.R375H	ENST00000376126	NM_001099850.1	375	cGc/cAc	0	T:0.0002,T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS41258.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGGCTC	NONE	byCluster	.	hmmpanther:PTHR14224:SF5,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	T:0,T:0	ENSP00000365294	.	3/3	.	.	.	.	.	.	.	.	rs376569101,rs762928588	3/3	PASS	ENST00000376126	Transcript	.	.	ENSG00000204491	30693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.45)	.	PRA18_HUMAN	PRAMEF18	HGNC	.	.	UPI00002521C0	SNV	PRAMEF18,missense_variant,p.Arg375His,ENST00000376126,;	1124	1056	678	SUCCESS
SPRR2A	6700	.	GRCh37	1	153029108	153029108	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	26	146	0	ENST00000392653.2:c.104C>A	p.Pro35His	p.P35H	ENST00000392653	NM_005988.2	35	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS1034.1	104	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF29,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR01217,Prints_domain:PR00021	.	.	ENSP00000376423	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392653	Transcript	.	.	ENSG00000241794	11261	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SPR2A_HUMAN	SPRR2A	HGNC	.	.	UPI0000135D6D	SNV	SPRR2A,missense_variant,p.Pro35His,ENST00000392653,;	190	146	137	SUCCESS
CCT3	7203	.	GRCh37	1	156280946	156280946	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758436442	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	22	121	0	ENST00000295688.3:c.1196G>A	p.Arg399His	p.R399H	ENST00000295688	NM_005998.4	399	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS1140.2	1196	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCGACAC	NONE	byFrequency	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Gene3D:3.30.260.10,Pfam_domain:PF00118,Superfamily_domains:SSF54849	.	.	ENSP00000295688	.	12/14	.	.	.	.	.	.	.	.	rs758436442	12/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.167)	.	deleterious(0)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Arg354His,ENST00000472765,;CCT3,missense_variant,p.Arg399His,ENST00000295688,;CCT3,missense_variant,p.Arg354His,ENST00000368261,;CCT3,missense_variant,p.Arg361His,ENST00000368259,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;	1477	121	142	SUCCESS
FCRL5	83416	.	GRCh37	1	157504329	157504330	+	intron_variant	Intron	INS	-	-	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	297	29	171	0	ENST00000361835.3:c.1681+74dup		p.*561*	ENST00000361835	NM_001195388.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1165.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTGCAAACA	NONE	.	.	.	.	.	ENSP00000354691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODIFIER	8/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	insertion	FCRL5,frameshift_variant,p.Ala586CysfsTer22,ENST00000368189,;FCRL5,intron_variant,,ENST00000361835,;FCRL5,intron_variant,,ENST00000368190,;FCRL5,intron_variant,,ENST00000356953,;FCRL5,intron_variant,,ENST00000368191,;	.	171	326	SUCCESS
APCS	325	.	GRCh37	1	159558025	159558025	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	11	89	0	ENST00000255040.2:c.199A>T	p.Ser67Cys	p.S67C	ENST00000255040	NM_001639.3	67	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS1186.1	199	MUTECT|MUSE	.	CCTACAGCCTC	NONE	.	.	hmmpanther:PTHR19277:SF99,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000255040	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000255040	Transcript	.	.	ENSG00000132703	584	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.918)	.	deleterious(0.01)	.	SAMP_HUMAN	APCS	HGNC	.	.	UPI0000135533	SNV	APCS,missense_variant,p.Ser67Cys,ENST00000255040,;	296	89	160	SUCCESS
CD48	962	.	GRCh37	1	160648872	160648872	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	37	117	0	ENST00000368046.3:c.702G>A	p.Val234=	p.V234=	ENST00000368046	NM_001778.3	234	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1208.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCACCGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12080:SF47,hmmpanther:PTHR12080	.	.	ENSP00000357025	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368046	Transcript	.	.	ENSG00000117091	1683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD48_HUMAN	CD48	HGNC	.	.	UPI000004D167	SNV	CD48,synonymous_variant,p.%3D,ENST00000368046,;CD48,downstream_gene_variant,,ENST00000368045,;RP11-404F10.2,intron_variant,,ENST00000588034,;RP11-404F10.2,intron_variant,,ENST00000443928,;RP11-404F10.2,intron_variant,,ENST00000598917,;	790	117	121	SUCCESS
UBR4	23352	.	GRCh37	1	19407897	19407897	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372882903	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	11	80	0	ENST00000375254.3:c.15179G>A	p.Arg5060Gln	p.R5060Q	ENST00000375254	NM_020765.2	5060	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS189.1	15179	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCGCAAG	NONE	byFrequency|byCluster	.	Pfam_domain:PF13764,hmmpanther:PTHR21725	.	T:0.0001	ENSP00000364403	.	103/106	.	.	.	.	.	.	.	.	rs372882903	103/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.061)	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Arg724Gln,ENST00000543981,;UBR4,missense_variant,p.Arg5060Gln,ENST00000375267,;UBR4,missense_variant,p.Arg135Gln,ENST00000375225,;UBR4,missense_variant,p.Arg767Gln,ENST00000375224,;UBR4,missense_variant,p.Arg5060Gln,ENST00000375254,;UBR4,missense_variant,p.Arg583Gln,ENST00000429347,;UBR4,missense_variant,p.Arg5053Gln,ENST00000375217,;UBR4,missense_variant,p.Arg5036Gln,ENST00000375226,;AL137127.1,downstream_gene_variant,,ENST00000582644,;UBR4,upstream_gene_variant,,ENST00000486515,;UBR4,upstream_gene_variant,,ENST00000459947,;	15207	80	95	SUCCESS
DNAH14	127602	.	GRCh37	1	225440023	225440023	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1480949066	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	229	195	466	0	ENST00000445597.2:c.5488G>A	p.Glu1830Lys	p.E1830K	ENST00000445597		1830	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	.	.	5488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGAATGT	NONE	.	.	hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676	.	.	ENSP00000409472	.	31/61	.	.	.	.	.	.	.	.	.	31/61	PASS	ENST00000445597	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.24)	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI0001642868	SNV	DNAH14,missense_variant,p.Glu1830Lys,ENST00000445597,;DNAH14,missense_variant,p.Glu2251Lys,ENST00000430092,;DNAH14,missense_variant,p.Glu23Lys,ENST00000450490,;DNAH14,missense_variant,p.Glu2251Lys,ENST00000439375,;DNAH14,missense_variant,p.Glu18Lys,ENST00000327794,;	5488	466	425	SUCCESS
CYP4B1	1580	.	GRCh37	1	47264911	47264911	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs773563294	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	124	0	ENST00000271153.4:c.158G>A	p.Trp53Ter	p.W53*	ENST00000271153		53	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS41328.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGGCTTT	NONE	.	.	hmmpanther:PTHR24290:SF43,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360991	.	1/12	.	.	.	.	.	.	.	.	rs773563294,COSM230854	1/12	PASS	ENST00000371923	Transcript	.	.	ENSG00000142973	2644	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CP4B1_HUMAN	CYP4B1	HGNC	F5H1Q8_HUMAN,E7EME6_HUMAN	.	UPI0000073C54	SNV	CYP4B1,stop_gained,p.Trp53Ter,ENST00000271153,;CYP4B1,stop_gained,p.Trp53Ter,ENST00000371923,;CYP4B1,stop_gained,p.Trp53Ter,ENST00000371919,;CYP4B1,intron_variant,,ENST00000546128,;CYP4B1,stop_gained,p.Trp53Ter,ENST00000464439,;CYP4B1,stop_gained,p.Trp53Ter,ENST00000529715,;CYP4B1,stop_gained,p.Trp53Ter,ENST00000534708,;	194	124	67	SUCCESS
ICMT	23463	.	GRCh37	1	6292060	6292060	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	39	144	1	ENST00000343813.5:c.574G>T	p.Glu192Ter	p.E192*	ENST00000343813	NM_012405.3	192	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS61.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCATTCT	NONE	.	.	PROSITE_profiles:PS51564,hmmpanther:PTHR12714,Pfam_domain:PF04140	.	.	ENSP00000343552	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000343813	Transcript	.	.	ENSG00000116237	5350	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICMT_HUMAN	ICMT	HGNC	K7EQW0_HUMAN,B3KS61_HUMAN	.	UPI00000012C2	SNV	ICMT,stop_gained,p.Glu192Ter,ENST00000343813,;ICMT,downstream_gene_variant,,ENST00000362035,;LINC00337,upstream_gene_variant,,ENST00000441724,;ICMT,3_prime_UTR_variant,,ENST00000489498,;ICMT,3_prime_UTR_variant,,ENST00000474756,;	603	145	163	SUCCESS
DIRAS3	9077	.	GRCh37	1	68512864	68512864	+	synonymous_variant	Silent	SNP	G	G	A	rs1359297766	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	124	0	ENST00000370981.1:c.117C>T	p.Arg39=	p.R39=	ENST00000370981		39	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS641.1	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGACGCGGTA	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,hmmpanther:PTHR24070:SF202,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000360020	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370981	Transcript	.	.	ENSG00000162595	687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIRA3_HUMAN	DIRAS3	HGNC	.	.	UPI0000133893	SNV	DIRAS3,synonymous_variant,p.%3D,ENST00000370981,;DIRAS3,synonymous_variant,p.%3D,ENST00000395201,;GNG12-AS1,intron_variant,,ENST00000413628,;GNG12-AS1,intron_variant,,ENST00000420587,;ARL5AP3,downstream_gene_variant,,ENST00000439327,;RP4-609E1.2,downstream_gene_variant,,ENST00000435784,;	754	124	95	SUCCESS
C20orf26	0	.	GRCh37	20	20055874	20055874	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	35	205	0	ENST00000245957.5:c.413T>C	p.Leu138Pro	p.L138P	ENST00000245957	NM_015585.3	138	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS33447.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTCATCG	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Leu138Pro,ENST00000451767,;C20orf26,missense_variant,p.Leu138Pro,ENST00000377306,;C20orf26,missense_variant,p.Leu138Pro,ENST00000245957,;C20orf26,missense_variant,p.Leu92Pro,ENST00000340348,;C20orf26,missense_variant,p.Leu138Pro,ENST00000377303,;C20orf26,missense_variant,p.Leu34Pro,ENST00000472660,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,downstream_gene_variant,,ENST00000475466,;C20orf26,downstream_gene_variant,,ENST00000494029,;	489	205	121	SUCCESS
NCOA3	8202	.	GRCh37	20	46264392	46264392	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	33	128	0	ENST00000371998.3:c.1439T>G	p.Ile480Ser	p.I480S	ENST00000371998		480	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS13407.1	1439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATATCATGA	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0.05)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Ile490Ser,ENST00000371997,;NCOA3,missense_variant,p.Ile480Ser,ENST00000372004,;NCOA3,missense_variant,p.Ile490Ser,ENST00000341724,;NCOA3,missense_variant,p.Ile480Ser,ENST00000371998,;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;	1630	128	131	SUCCESS
NCOA3	8202	.	GRCh37	20	46265318	46265320	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	rs1475395274	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	139	39	157	0	ENST00000371998.3:c.2194_2196del	p.Lys732del	p.K732del	ENST00000371998		730	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS13407.1	2188-2190	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCCTAAGAAGAA	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	deletion	NCOA3,inframe_deletion,p.Lys742del,ENST00000371997,;NCOA3,inframe_deletion,p.Lys732del,ENST00000372004,;NCOA3,inframe_deletion,p.Lys742del,ENST00000341724,;NCOA3,inframe_deletion,p.Lys732del,ENST00000371998,;	2379-2381	157	178	SUCCESS
IFNAR2	3455	.	GRCh37	21	34617294	34617294	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs778657924	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	41	138	1	ENST00000342136.4:c.136C>T	p.Arg46Ter	p.R46*	ENST00000342136		46	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS13621.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCGAAAT	NONE	byFrequency	.	hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF23,Pfam_domain:PF01108,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000343957	.	4/9	.	.	.	.	.	.	.	.	rs778657924	4/9	PASS	ENST00000342136	Transcript	.	.	ENSG00000159110	5433	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INAR2_HUMAN	IFNAR2	HGNC	C9JCU0_HUMAN	.	UPI000012D69B	SNV	IFNAR2,stop_gained,p.Arg46Ter,ENST00000342136,;IFNAR2,stop_gained,p.Arg46Ter,ENST00000382241,;IFNAR2,stop_gained,p.Arg70Ter,ENST00000447980,;IFNAR2,stop_gained,p.Arg46Ter,ENST00000342101,;IFNAR2,stop_gained,p.Arg46Ter,ENST00000382264,;IFNAR2,stop_gained,p.Arg46Ter,ENST00000404220,;IFNAR2,5_prime_UTR_variant,,ENST00000413881,;IFNAR2,5_prime_UTR_variant,,ENST00000443073,;AP000295.9,upstream_gene_variant,,ENST00000433395,;IFNAR2,intron_variant,,ENST00000420068,;IFNAR2,stop_gained,p.Arg46Ter,ENST00000382238,;IFNAR2,upstream_gene_variant,,ENST00000417007,;AP000295.9,upstream_gene_variant,,ENST00000432231,;	462	139	175	SUCCESS
CBS	875	.	GRCh37	21	44488625	44488625	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	45	203	0	ENST00000352178.5:c.310G>T	p.Glu104Ter	p.E104*	ENST00000352178	NM_001178008.1	104	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS13693.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCACACT	CODON|p.E104D|c.312G>T|3	.	.	hmmpanther:PTHR10314:SF48,hmmpanther:PTHR10314,Pfam_domain:PF00291,TIGRFAM_domain:TIGR01137,Superfamily_domains:SSF53686	.	.	ENSP00000381231	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000398165	Transcript	.	.	ENSG00000160200	1550	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBS_HUMAN	CBS	HGNC	Q96EH7_HUMAN,Q3LR94_HUMAN,F5H2U1_HUMAN,C9JMA6_HUMAN	.	UPI0000036BC5	SNV	CBS,stop_gained,p.Glu104Ter,ENST00000398165,;CBS,stop_gained,p.Glu104Ter,ENST00000352178,;CBS,stop_gained,p.Glu104Ter,ENST00000359624,;CBS,stop_gained,p.Glu16Ter,ENST00000544202,;CBS,stop_gained,p.Glu104Ter,ENST00000398168,;CBS,stop_gained,p.Glu104Ter,ENST00000441030,;CBS,stop_gained,p.Glu104Ter,ENST00000398158,;CBS,non_coding_transcript_exon_variant,,ENST00000465732,;CBS,non_coding_transcript_exon_variant,,ENST00000488526,;CBS,non_coding_transcript_exon_variant,,ENST00000470912,;CBS,upstream_gene_variant,,ENST00000496485,;CBS,upstream_gene_variant,,ENST00000461686,;	570	203	136	SUCCESS
TSPEAR	54084	.	GRCh37	21	46020985	46020985	+	intron_variant	Intron	SNP	C	C	A	rs1555928561	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	77	366	0	ENST00000323084.4:c.83-33096G>T		p.*28*	ENST00000323084	NM_001272037.1	155		0	.	.	.	.	.	A	P/H	protein_coding	YES	.	464	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF40,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000369445	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380102	Transcript	.	.	ENSG00000205441	22970	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.02)	.	KR107_HUMAN	KRTAP10-7	HGNC	.	.	UPI000036709B	SNV	KRTAP10-7,missense_variant,p.Pro155His,ENST00000380102,;TSPEAR,intron_variant,,ENST00000323084,;AL773602.1,non_coding_transcript_exon_variant,,ENST00000339001,;	489	366	261	SUCCESS
GAS2L1	10634	.	GRCh37	22	29706428	29706428	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	62	122	0	ENST00000341313.6:c.634-1G>T		p.X212_splice	ENST00000341313		212		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGGTGAG	NONE	.	.	.	.	.	ENSP00000344012	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	HIGH	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,splice_acceptor_variant,,ENST00000341313,;GAS2L1,splice_acceptor_variant,,ENST00000403764,;GAS2L1,splice_acceptor_variant,,ENST00000407854,;GAS2L1,splice_acceptor_variant,,ENST00000471961,;GAS2L1,splice_acceptor_variant,,ENST00000360113,;GAS2L1,splice_acceptor_variant,,ENST00000407647,;GAS2L1,splice_acceptor_variant,,ENST00000406549,;GAS2L1,downstream_gene_variant,,ENST00000416823,;RASL10A,downstream_gene_variant,,ENST00000401450,;GAS2L1,downstream_gene_variant,,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000216101,;RASL10A,downstream_gene_variant,,ENST00000608559,;RASL10A,downstream_gene_variant,,ENST00000474590,;GAS2L1,non_coding_transcript_exon_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	.	122	154	SUCCESS
GAS2L1	10634	.	GRCh37	22	29706429	29706429	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	62	121	1	ENST00000341313.6:c.634G>T	p.Val212Leu	p.V212L	ENST00000341313		212	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	.	634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGTGAGG	NONE	.	.	PROSITE_profiles:PS51460,hmmpanther:PTHR25069:SF123,hmmpanther:PTHR25069,Pfam_domain:PF02187,Gene3D:1v5rA00,SMART_domains:SM00243,Superfamily_domains:0050058	.	.	ENSP00000344012	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,missense_variant,p.Val212Leu,ENST00000341313,;GAS2L1,missense_variant,p.Val212Leu,ENST00000403764,;GAS2L1,missense_variant,p.Val212Leu,ENST00000407854,;GAS2L1,missense_variant,p.Val212Leu,ENST00000471961,;GAS2L1,missense_variant,p.Val212Leu,ENST00000360113,;GAS2L1,missense_variant,p.Val212Leu,ENST00000407647,;GAS2L1,missense_variant,p.Val212Leu,ENST00000406549,;GAS2L1,downstream_gene_variant,,ENST00000416823,;RASL10A,downstream_gene_variant,,ENST00000401450,;GAS2L1,downstream_gene_variant,,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000216101,;RASL10A,downstream_gene_variant,,ENST00000608559,;RASL10A,downstream_gene_variant,,ENST00000474590,;GAS2L1,non_coding_transcript_exon_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	766	122	155	SUCCESS
CBX7	23492	.	GRCh37	22	39530449	39530449	+	synonymous_variant	Silent	SNP	C	C	T	rs765884458	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	76	0	ENST00000216133.5:c.555G>A	p.Ala185=	p.A185=	ENST00000216133	NM_175709.3	185	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13986.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCGCCTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22812:SF26,hmmpanther:PTHR22812	.	.	ENSP00000216133	.	5/6	.	.	.	.	.	.	.	.	rs765884458,COSM1416320	5/6	PASS	ENST00000216133	Transcript	.	.	ENSG00000100307	1557	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CBX7_HUMAN	CBX7	HGNC	.	.	UPI00001271FE	SNV	CBX7,synonymous_variant,p.%3D,ENST00000401405,;CBX7,synonymous_variant,p.%3D,ENST00000216133,;CBX7,downstream_gene_variant,,ENST00000434260,;CBX7,intron_variant,,ENST00000475962,;CBX7,non_coding_transcript_exon_variant,,ENST00000490741,;	761	76	49	SUCCESS
PLXNB2	23654	.	GRCh37	22	50720691	50720691	+	synonymous_variant	Silent	SNP	C	C	T	rs778706365	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	110	0	ENST00000359337.4:c.3039G>A	p.Arg1013=	p.R1013=	ENST00000359337	NM_012401.3	1013	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS43035.1	3039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAACCTCTG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000409171	.	19/37	.	.	.	.	.	.	.	.	rs778706365	19/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,synonymous_variant,p.%3D,ENST00000359337,;PLXNB2,synonymous_variant,p.%3D,ENST00000449103,;PLXNB2,intron_variant,,ENST00000427829,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,;PLXNB2,upstream_gene_variant,,ENST00000479818,;PLXNB2,upstream_gene_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000492578,;	3180	110	75	SUCCESS
IL1R1	3554	.	GRCh37	2	102791944	102791944	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761337171	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	420	104	505	0	ENST00000410023.1:c.1142A>G	p.Asp381Gly	p.D381G	ENST00000410023		381	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2055.1	1142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGATGGAA	NONE	.	.	hmmpanther:PTHR11890:SF19,hmmpanther:PTHR11890,Superfamily_domains:SSF52200,Prints_domain:PR01537	.	.	ENSP00000386380	.	11/12	.	.	.	.	.	.	.	.	rs761337171	11/12	PASS	ENST00000410023	Transcript	.	.	ENSG00000115594	5993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	deleterious(0)	.	IL1R1_HUMAN	IL1R1	HGNC	C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN	.	UPI0000034759	SNV	IL1R1,missense_variant,p.Asp381Gly,ENST00000409288,;IL1R1,missense_variant,p.Asp381Gly,ENST00000424272,;IL1R1,missense_variant,p.Asp381Gly,ENST00000409329,;IL1R1,missense_variant,p.Asp381Gly,ENST00000233946,;IL1R1,missense_variant,p.Asp381Gly,ENST00000410023,;IL1R1,missense_variant,p.Asp237Gly,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,intron_variant,,ENST00000409929,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	1460	506	525	SUCCESS
LRP1B	53353	.	GRCh37	2	141773444	141773444	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	66	280	0	ENST00000389484.3:c.2011G>T	p.Asp671Tyr	p.D671Y	ENST00000389484	NM_018557.2	671	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2182.1	2011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCATCTA	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	13/91	.	.	.	.	.	.	.	.	.	13/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Asp671Tyr,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	2983	280	216	SUCCESS
LRP2	4036	.	GRCh37	2	170044602	170044602	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	43	295	0	ENST00000263816.3:c.9206A>T	p.His3069Leu	p.H3069L	ENST00000263816	NM_004525.2	3069	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS2232.1	9206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGTGGCAC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	49/79	.	.	.	.	.	.	.	.	.	49/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.His3069Leu,ENST00000263816,;	9492	295	176	SUCCESS
EVX2	344191	.	GRCh37	2	176948256	176948256	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	42	193	0	ENST00000308618.4:c.249C>T	p.Gly83=	p.G83=	ENST00000308618	NM_001080458.1	83	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS33333.1	249	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTGCCCGT	NONE	.	.	hmmpanther:PTHR24329:SF289,hmmpanther:PTHR24329	.	.	ENSP00000312385	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308618	Transcript	.	.	ENSG00000174279	3507	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EVX2_HUMAN	EVX2	HGNC	.	.	UPI000012A2AF	SNV	EVX2,synonymous_variant,p.%3D,ENST00000308618,;	386	193	228	SUCCESS
GPBAR1	151306	.	GRCh37	2	219127770	219127770	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	96	0	ENST00000479077.1:c.323G>T	p.Gly108Val	p.G108V	ENST00000479077		108	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46515.1	323	RADIA|MUTECT|MUSE|VARSCANS	.	GCACGGGGAGC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24236:SF13,hmmpanther:PTHR24236,PROSITE_profiles:PS50262	.	.	ENSP00000430886	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000522678	Transcript	.	.	ENSG00000179921	19680	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.925)	.	tolerated(0.31)	.	GPBAR_HUMAN	GPBAR1	HGNC	.	.	UPI000000D72D	SNV	GPBAR1,missense_variant,p.Gly108Val,ENST00000521462,;GPBAR1,missense_variant,p.Gly108Val,ENST00000522678,;GPBAR1,missense_variant,p.Gly108Val,ENST00000479077,;GPBAR1,missense_variant,p.Gly108Val,ENST00000519574,;AAMP,downstream_gene_variant,,ENST00000422731,;AAMP,downstream_gene_variant,,ENST00000248450,;AAMP,downstream_gene_variant,,ENST00000420660,;AAMP,downstream_gene_variant,,ENST00000447885,;AAMP,downstream_gene_variant,,ENST00000444053,;AAMP,downstream_gene_variant,,ENST00000465442,;AAMP,downstream_gene_variant,,ENST00000475678,;AAMP,downstream_gene_variant,,ENST00000489767,;AAMP,downstream_gene_variant,,ENST00000494720,;AAMP,downstream_gene_variant,,ENST00000461911,;	1191	96	110	SUCCESS
C2orf62	0	.	GRCh37	2	219222293	219222293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369378162	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	13	96	0	ENST00000289388.3:c.155C>T	p.Thr52Met	p.T52M	ENST00000289388	NM_198559.1	52	aCg/aTg	0	T:0.0002	.	.	.	.	T	T/M	protein_coding	YES	CCDS2414.1	155	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGACGCTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2	.	T:0	ENSP00000289388	.	3/10	.	.	.	.	.	.	.	.	rs369378162,COSM2150139	3/10	PASS	ENST00000289388	Transcript	.	.	ENSG00000158428	25062	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.959)	.	deleterious(0)	0,1	CB062_HUMAN	C2orf62	HGNC	.	.	UPI000019B2D3	SNV	C2orf62,missense_variant,p.Thr52Met,ENST00000289388,;AC021016.8,intron_variant,,ENST00000411433,;C2orf62,upstream_gene_variant,,ENST00000481940,;C2orf62,non_coding_transcript_exon_variant,,ENST00000480532,;C2orf62,non_coding_transcript_exon_variant,,ENST00000495773,;AC021016.7,downstream_gene_variant,,ENST00000414167,;	184	96	98	SUCCESS
NYAP2	57624	.	GRCh37	2	226378371	226378371	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1274355128	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	80	0	ENST00000272907.6:c.506C>T	p.Thr169Ile	p.T169I	ENST00000272907	NM_020864.1	169	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS46529.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAACCCCTG	NONE	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633	.	.	ENSP00000272907	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.18)	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,missense_variant,p.Thr169Ile,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	919	80	64	SUCCESS
NYAP2	57624	.	GRCh37	2	226447056	226447056	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746993221	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	99	0	ENST00000272907.6:c.923A>G	p.Lys308Arg	p.K308R	ENST00000272907	NM_020864.1	308	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46529.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCAAGGCCT	NONE	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633	.	.	ENSP00000272907	.	4/6	.	.	.	.	.	.	.	.	rs746993221	4/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.55)	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,missense_variant,p.Lys308Arg,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	1336	99	108	SUCCESS
FAM161A	84140	.	GRCh37	2	62067708	62067708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	72	183	0	ENST00000405894.3:c.431C>T	p.Ser144Leu	p.S144L	ENST00000405894	NM_032180.2	144	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS56120.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGATACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF3	.	.	ENSP00000385158	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000404929	Transcript	.	.	ENSG00000170264	25808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	tolerated(0.84)	.	F161A_HUMAN	FAM161A	HGNC	.	.	UPI00006C0438	SNV	FAM161A,missense_variant,p.Ser144Leu,ENST00000405894,;FAM161A,missense_variant,p.Ser144Leu,ENST00000404929,;FAM161A,missense_variant,p.Ser140Leu,ENST00000418113,;FAM161A,3_prime_UTR_variant,,ENST00000307507,;FAM161A,intron_variant,,ENST00000456262,;FAM161A,upstream_gene_variant,,ENST00000496369,;FAM161A,upstream_gene_variant,,ENST00000478494,;	443	183	148	SUCCESS
EHBP1	23301	.	GRCh37	2	62998523	62998523	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	24	138	0	ENST00000263991.5:c.308A>C	p.Glu103Ala	p.E103A	ENST00000263991	NM_015252.3	103	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS1872.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGAAAATG	NONE	.	.	hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124,Pfam_domain:PF10358	.	.	ENSP00000263991	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000263991	Transcript	.	.	ENSG00000115504	29144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	deleterious(0)	.	EHBP1_HUMAN	EHBP1	HGNC	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN	.	UPI000013D49A	SNV	EHBP1,missense_variant,p.Glu103Ala,ENST00000405482,;EHBP1,missense_variant,p.Glu103Ala,ENST00000263991,;EHBP1,missense_variant,p.Glu103Ala,ENST00000405289,;EHBP1,missense_variant,p.Glu103Ala,ENST00000405015,;EHBP1,missense_variant,p.Glu103Ala,ENST00000431489,;EHBP1,missense_variant,p.Glu71Ala,ENST00000413434,;EHBP1,missense_variant,p.Glu103Ala,ENST00000354487,;EHBP1,5_prime_UTR_variant,,ENST00000426940,;EHBP1,intron_variant,,ENST00000449820,;EHBP1,non_coding_transcript_exon_variant,,ENST00000472809,;EHBP1,non_coding_transcript_exon_variant,,ENST00000494958,;	790	138	130	SUCCESS
C2orf81	388963	.	GRCh37	2	74642777	74642777	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	32	0	ENST00000290390.5:c.478-32C>A		p.*160*	ENST00000290390	NM_001145054.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUSE|VARSCANS	.	ATGTCGGAAAG	NONE	.	.	.	.	.	ENSP00000290390	.	.	.	.	.	.	.	.	.	.	.	.	oxog	ENST00000290390	Transcript	.	.	ENSG00000159239	34350	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	C2orf81	HGNC	G3XAA6_HUMAN	.	UPI0000EE2496	SNV	C2orf81,missense_variant,p.Pro81Gln,ENST00000517883,;C2orf81,missense_variant,p.Pro179Gln,ENST00000517896,;C2orf81,missense_variant,p.Pro81Gln,ENST00000518863,;C2orf81,intron_variant,,ENST00000290390,;C2orf81,downstream_gene_variant,,ENST00000518401,;HMGA1P8,downstream_gene_variant,,ENST00000414130,;AC005041.11,upstream_gene_variant,,ENST00000448783,;	.	32	17	SUCCESS
USP39	10713	.	GRCh37	2	85843340	85843340	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	44	1	ENST00000323701.6:c.22G>A	p.Glu8Lys	p.E8K	ENST00000323701	NM_006590.3	8	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33234.1	22	MUTECT|MUSE	.	AGCGGGAGTCT	BUFFER|p.R10R|c.30C>T|3	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000312981	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000323701	Transcript	.	.	ENSG00000168883	20071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.06)	.	SNUT2_HUMAN	USP39	HGNC	B3KPG7_HUMAN	.	UPI000003771A	SNV	USP39,missense_variant,p.Glu8Lys,ENST00000323701,;USP39,missense_variant,p.Glu8Lys,ENST00000409766,;USP39,missense_variant,p.Glu8Lys,ENST00000409470,;USP39,missense_variant,p.Glu8Lys,ENST00000409025,;USP39,intron_variant,,ENST00000448971,;USP39,intron_variant,,ENST00000442708,;USP39,intron_variant,,ENST00000450066,;C2orf68,upstream_gene_variant,,ENST00000306336,;C2orf68,upstream_gene_variant,,ENST00000409734,;USP39,non_coding_transcript_exon_variant,,ENST00000455732,;USP39,intron_variant,,ENST00000465282,;USP39,intron_variant,,ENST00000459775,;USP39,intron_variant,,ENST00000474572,;USP39,intron_variant,,ENST00000491659,;C2orf68,upstream_gene_variant,,ENST00000478626,;USP39,missense_variant,p.Glu8Lys,ENST00000458268,;C2orf68,upstream_gene_variant,,ENST00000420686,;C2orf68,upstream_gene_variant,,ENST00000423181,;USP39,upstream_gene_variant,,ENST00000493829,;	32	45	55	SUCCESS
MRPS5	64969	.	GRCh37	2	95756225	95756225	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768319910	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	115	0	ENST00000272418.2:c.974G>A	p.Arg325Gln	p.R325Q	ENST00000272418	NM_031902.3	325	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS2010.1	974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCCGGCAG	NONE	.	.	hmmpanther:PTHR13718,hmmpanther:PTHR13718:SF61,Gene3D:3.30.230.10,Pfam_domain:PF03719,Superfamily_domains:SSF54211	.	.	ENSP00000272418	.	11/12	.	.	.	.	.	.	.	.	rs768319910	11/12	PASS	ENST00000272418	Transcript	.	.	ENSG00000144029	14498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	tolerated(0.22)	.	RT05_HUMAN	MRPS5	HGNC	.	.	UPI00000467FE	SNV	MRPS5,missense_variant,p.Arg325Gln,ENST00000272418,;MRPS5,3_prime_UTR_variant,,ENST00000345084,;MRPS5,non_coding_transcript_exon_variant,,ENST00000482568,;MRPS5,non_coding_transcript_exon_variant,,ENST00000482821,;MRPS5,non_coding_transcript_exon_variant,,ENST00000461916,;	1183	115	76	SUCCESS
PROM2	150696	.	GRCh37	2	95950732	95950732	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs553459907	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	40	183	0	ENST00000317620.9:c.1744C>T	p.Arg582Trp	p.R582W	ENST00000317620	NM_001165978.1	582	Cgg/Tgg	0	.	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS2012.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTACGGCAG	NONE	by1000G	.	Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	T:0.001	.	ENSP00000318270	T:0	15/24	.	.	.	.	.	.	.	.	rs553459907	15/24	PASS	ENST00000317620	Transcript	.	T:0.0002	ENSG00000155066	20685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0	deleterious(0)	.	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,missense_variant,p.Arg582Trp,ENST00000317620,;PROM2,missense_variant,p.Arg582Trp,ENST00000403131,;PROM2,missense_variant,p.Arg582Trp,ENST00000317668,;PROM2,intron_variant,,ENST00000542147,;PROM2,intron_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	1877	183	125	SUCCESS
PHLDB2	90102	.	GRCh37	3	111604197	111604197	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	64	0	ENST00000393925.3:c.1273C>T	p.Leu425=	p.L425=	ENST00000393925	NM_001134439.1	425	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46886.1	1273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACCTGATG	NONE	.	.	hmmpanther:PTHR12156:SF17,hmmpanther:PTHR12156	.	.	ENSP00000405405	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000431670	Transcript	.	.	ENSG00000144824	29573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHLB2_HUMAN	PHLDB2	HGNC	Q8NEI7_HUMAN,Q659D2_HUMAN	.	UPI0000457152	SNV	PHLDB2,synonymous_variant,p.%3D,ENST00000477695,;PHLDB2,synonymous_variant,p.%3D,ENST00000478922,;PHLDB2,synonymous_variant,p.%3D,ENST00000393923,;PHLDB2,synonymous_variant,p.%3D,ENST00000412622,;PHLDB2,synonymous_variant,p.%3D,ENST00000481953,;PHLDB2,synonymous_variant,p.%3D,ENST00000498699,;PHLDB2,synonymous_variant,p.%3D,ENST00000431670,;PHLDB2,synonymous_variant,p.%3D,ENST00000393925,;	1684	64	63	SUCCESS
SLC9C1	285335	.	GRCh37	3	111985087	111985089	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	AAG	AAG	-	rs557883834	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	237	192	364	0	ENST00000305815.5:c.874_876del	p.Leu292del	p.L292del	ENST00000305815	NM_183061.1	292	CTT/-	0	.	-:0.003	.	-:0	.	-	L/-	protein_coding	YES	CCDS33817.1	874-876	INDELOCATOR*|VARSCANI*|PINDEL	.	TTACTCAAGAAGAA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Pfam_domain:PF00999	-:0	.	ENSP00000306627	-:0	8/29	.	.	.	.	.	.	.	.	rs557883834	8/29	PASS	ENST00000305815	Transcript	.	-:0.0008	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	-:0	.	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	deletion	SLC9C1,inframe_deletion,p.Leu292del,ENST00000487372,;SLC9C1,inframe_deletion,p.Leu292del,ENST00000305815,;SLC9C1,inframe_deletion,p.Leu238del,ENST00000471295,;	1127-1129	364	429	SUCCESS
BOC	91653	.	GRCh37	3	112987288	112987288	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	54	0	ENST00000355385.3:c.519C>T	p.Ser173=	p.S173=	ENST00000355385	NM_033254.2	173	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2971.1	519	RADIA|MUSE|VARSCANS	.	GCCTCCAGAGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	.	.	ENSP00000418663	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,synonymous_variant,p.%3D,ENST00000355385,;BOC,synonymous_variant,p.%3D,ENST00000495514,;BOC,synonymous_variant,p.%3D,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000498710,;BOC,non_coding_transcript_exon_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000471963,;BOC,upstream_gene_variant,,ENST00000466059,;BOC,upstream_gene_variant,,ENST00000479182,;	1223	55	63	SUCCESS
GRIP2	80852	.	GRCh37	3	14548375	14548375	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	113	0	ENST00000273083.3:n.2397C>T		p.*799*	ENST00000273083				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGCACAG	NONE	.	.	.	.	.	.	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000430219,;GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;	2397	114	67	SUCCESS
EIF2A	83939	.	GRCh37	3	150285799	150285799	+	synonymous_variant	Silent	SNP	G	G	A	rs958986245	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	56	0	ENST00000460851.1:c.660G>A	p.Lys220=	p.K220=	ENST00000460851		220	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS46935.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAGGCAGA	NONE	.	.	hmmpanther:PTHR13227,Pfam_domain:PF08662,PIRSF_domain:PIRSF017222	.	.	ENSP00000417229	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000460851	Transcript	.	.	ENSG00000144895	3254	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF2A_HUMAN	EIF2A	HGNC	.	.	UPI00000473DB	SNV	EIF2A,splice_acceptor_variant,,ENST00000383043,;EIF2A,synonymous_variant,p.%3D,ENST00000460851,;EIF2A,synonymous_variant,p.%3D,ENST00000406576,;EIF2A,synonymous_variant,p.%3D,ENST00000482093,;EIF2A,synonymous_variant,p.%3D,ENST00000487799,;EIF2A,synonymous_variant,p.%3D,ENST00000273435,;SERP1,intron_variant,,ENST00000479209,;EIF2A,upstream_gene_variant,,ENST00000465535,;SERP1,intron_variant,,ENST00000484608,;SERP1,intron_variant,,ENST00000490945,;SERP1,intron_variant,,ENST00000463647,;SERP1,intron_variant,,ENST00000491195,;EIF2A,upstream_gene_variant,,ENST00000482471,;EIF2A,splice_acceptor_variant,,ENST00000477551,;EIF2A,splice_region_variant,,ENST00000462221,;EIF2A,3_prime_UTR_variant,,ENST00000494558,;EIF2A,non_coding_transcript_exon_variant,,ENST00000472926,;EIF2A,downstream_gene_variant,,ENST00000474505,;EIF2A,downstream_gene_variant,,ENST00000490505,;	769	56	57	SUCCESS
TRIM59	286827	.	GRCh37	3	160155954	160155954	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	82	276	0	ENST00000309784.4:c.1018G>C	p.Val340Leu	p.V340L	ENST00000309784	NM_173084.2	340	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS3190.1	1018	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTACTGAAA	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000311219	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309784	Transcript	.	.	ENSG00000213186	30834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.63)	.	TRI59_HUMAN	TRIM59	HGNC	C9JE08_HUMAN,C9J9F0_HUMAN,C9J614_HUMAN,C9IZE0_HUMAN	.	UPI0000074490	SNV	TRIM59,missense_variant,p.Val340Leu,ENST00000309784,;TRIM59,intron_variant,,ENST00000543469,;SMC4,downstream_gene_variant,,ENST00000344722,;TRIM59,downstream_gene_variant,,ENST00000479460,;TRIM59,downstream_gene_variant,,ENST00000471155,;TRIM59,downstream_gene_variant,,ENST00000496222,;SMC4,downstream_gene_variant,,ENST00000469762,;SMC4,downstream_gene_variant,,ENST00000462787,;TRIM59,downstream_gene_variant,,ENST00000468542,;TRIM59,downstream_gene_variant,,ENST00000471396,;SMC4,downstream_gene_variant,,ENST00000357388,;TRIM59,downstream_gene_variant,,ENST00000494486,;SMC4,downstream_gene_variant,,ENST00000360111,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,;	1204	276	253	SUCCESS
RPL22L1	200916	.	GRCh37	3	170588045	170588045	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	11	61	0	ENST00000295830.8:c.-89C>A		p.*30*	ENST00000295830	NM_001099645.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46955.1	.	MUTECT|MUSE	.	AGAGCGTCAGA	NONE	.	.	.	.	.	ENSP00000346080	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000295830	Transcript	.	.	ENSG00000163584	27610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RL22L_HUMAN	RPL22L1	HGNC	.	.	UPI000020A7AA	SNV	RPL22L1,5_prime_UTR_variant,,ENST00000295830,;RPL22L1,upstream_gene_variant,,ENST00000463836,;RPL22L1,upstream_gene_variant,,ENST00000466674,;RPL22L1,upstream_gene_variant,,ENST00000494771,;RPL22L1,upstream_gene_variant,,ENST00000478578,;RPL22L1,upstream_gene_variant,,ENST00000475836,;	228	61	54	SUCCESS
SPATA16	83893	.	GRCh37	3	172835323	172835323	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	953	178	650	0	ENST00000351008.3:c.199A>G	p.Lys67Glu	p.K67E	ENST00000351008	NM_031955.5	67	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3221.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTTTGTCA	NONE	.	.	Pfam_domain:PF15015	.	.	ENSP00000341765	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.486)	.	tolerated(0.39)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Lys67Glu,ENST00000351008,;	383	650	1132	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266882	41266882	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	40	191	0	ENST00000349496.5:c.553A>G	p.Arg185Gly	p.R185G	ENST00000349496	NM_001904.3	185	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS2694.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGACAC	BUFFER|p.A183A|c.549T>C|3	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.78)	.	deleterious(0.04)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Arg185Gly,ENST00000349496,;CTNNB1,missense_variant,p.Arg185Gly,ENST00000396185,;CTNNB1,missense_variant,p.Arg185Gly,ENST00000405570,;CTNNB1,missense_variant,p.Arg178Gly,ENST00000453024,;CTNNB1,missense_variant,p.Arg185Gly,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	833	191	132	SUCCESS
CCR9	10803	.	GRCh37	3	45942794	45942794	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	97	0	ENST00000357632.2:c.514A>G	p.Ile172Val	p.I172V	ENST00000357632	NM_031200.2	172	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2732.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCATCTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF62,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000350256	.	3/3	.	.	.	.	.	.	.	.	COSM1617647	3/3	PASS	ENST00000357632	Transcript	.	.	ENSG00000173585	1610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.007)	.	tolerated(1)	1	CCR9_HUMAN	CCR9	HGNC	Q9UN87_HUMAN	.	UPI0000039DBB	SNV	CCR9,missense_variant,p.Ile160Val,ENST00000355983,;CCR9,missense_variant,p.Ile160Val,ENST00000395963,;CCR9,missense_variant,p.Ile172Val,ENST00000357632,;CCR9,3_prime_UTR_variant,,ENST00000422395,;LZTFL1,intron_variant,,ENST00000536047,;LZTFL1,intron_variant,,ENST00000539217,;Y_RNA,upstream_gene_variant,,ENST00000364765,;LZTFL1,intron_variant,,ENST00000472635,;LZTFL1,intron_variant,,ENST00000492333,;LZTFL1,intron_variant,,ENST00000483279,;LZTFL1,intron_variant,,ENST00000418700,;LZTFL1,intron_variant,,ENST00000448111,;	694	97	66	SUCCESS
SLC26A6	65010	.	GRCh37	3	48669737	48669737	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	99	316	0	ENST00000395550.2:c.526A>T	p.Arg176Ter	p.R176*	ENST00000395550		176	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43087.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGGCTG	NONE	.	.	hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF18,TIGRFAM_domain:TIGR00815	.	.	ENSP00000378920	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000395550	Transcript	.	.	ENSG00000225697	14472	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S26A6_HUMAN	SLC26A6	HGNC	Q9Y3Y1_HUMAN	.	UPI0000135460	SNV	SLC26A6,stop_gained,p.Arg22Ter,ENST00000421649,;SLC26A6,stop_gained,p.Arg155Ter,ENST00000358747,;SLC26A6,stop_gained,p.Arg176Ter,ENST00000383733,;SLC26A6,stop_gained,p.Arg176Ter,ENST00000420764,;SLC26A6,stop_gained,p.Arg176Ter,ENST00000395550,;SLC26A6,intron_variant,,ENST00000455886,;SLC26A6,intron_variant,,ENST00000426599,;SLC26A6,intron_variant,,ENST00000431739,;SLC26A6,intron_variant,,ENST00000337000,;CELSR3,downstream_gene_variant,,ENST00000544264,;CELSR3,downstream_gene_variant,,ENST00000164024,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000482282,;SLC26A6,stop_gained,p.Arg12Ter,ENST00000444531,;SLC26A6,3_prime_UTR_variant,,ENST00000431213,;SLC26A6,3_prime_UTR_variant,,ENST00000307364,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000480524,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000489483,;CELSR3,downstream_gene_variant,,ENST00000461362,;SLC26A6,upstream_gene_variant,,ENST00000466257,;SLC26A6,upstream_gene_variant,,ENST00000414944,;SLC26A6,upstream_gene_variant,,ENST00000462009,;SLC26A6,upstream_gene_variant,,ENST00000496469,;CELSR3,downstream_gene_variant,,ENST00000498057,;SLC26A6,upstream_gene_variant,,ENST00000469693,;SLC26A6,upstream_gene_variant,,ENST00000485361,;SLC26A6,upstream_gene_variant,,ENST00000494717,;	574	316	235	SUCCESS
TET2	54790	.	GRCh37	4	106155605	106155605	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs545616524	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	199	0	ENST00000380013.4:c.506A>T	p.His169Leu	p.H169L	ENST00000380013	NM_001127208.2	169	cAt/cTt	0	.	G:0	.	G:0.0014	.	T	H/L	protein_coding	YES	CCDS47120.1	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACATAACT	NONE	by1000G	.	hmmpanther:PTHR23358:SF3,hmmpanther:PTHR23358	G:0	.	ENSP00000442788	G:0	3/11	.	.	.	.	.	.	.	.	rs545616524	3/11	PASS	ENST00000540549	Transcript	1	G:0.0002	ENSG00000168769	25941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	G:0	tolerated(0.25)	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,missense_variant,p.His169Leu,ENST00000305737,;TET2,missense_variant,p.His169Leu,ENST00000413648,;TET2,missense_variant,p.His169Leu,ENST00000540549,;TET2,missense_variant,p.His169Leu,ENST00000380013,;TET2,missense_variant,p.His169Leu,ENST00000545826,;TET2,missense_variant,p.His190Leu,ENST00000513237,;TET2,missense_variant,p.His169Leu,ENST00000394764,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,missense_variant,p.His169Leu,ENST00000265149,;	1366	199	135	SUCCESS
SH3D19	152503	.	GRCh37	4	152060939	152060939	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	135	0	ENST00000304527.4:c.1513G>A	p.Asp505Asn	p.D505N	ENST00000304527	NM_001009555.3	505	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34077.2	1513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCATGAA	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF00018,Gene3D:2.30.30.40,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF127,PROSITE_profiles:PS50002	.	.	ENSP00000302913	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000304527	Transcript	.	.	ENSG00000109686	30418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.85)	.	deleterious(0.05)	.	SH319_HUMAN	SH3D19	HGNC	.	.	UPI0000251D9A	SNV	SH3D19,missense_variant,p.Asp446Asn,ENST00000424281,;SH3D19,missense_variant,p.Asp505Asn,ENST00000304527,;SH3D19,missense_variant,p.Asp482Asn,ENST00000455740,;SH3D19,missense_variant,p.Asp482Asn,ENST00000409598,;SH3D19,missense_variant,p.Asp505Asn,ENST00000409252,;SH3D19,missense_variant,p.Asp482Asn,ENST00000514152,;SH3D19,missense_variant,p.Asp446Asn,ENST00000427414,;RP11-372K14.2,upstream_gene_variant,,ENST00000603472,;SH3D19,non_coding_transcript_exon_variant,,ENST00000508492,;SH3D19,non_coding_transcript_exon_variant,,ENST00000478503,;	2603	135	87	SUCCESS
HTT	3064	.	GRCh37	4	3225849	3225849	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	32	91	0	ENST00000355072.5:c.7756G>T	p.Ala2586Ser	p.A2586S	ENST00000355072	NM_002111.6	2586	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS43206.1	7756	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCCGGCTACT	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	56/67	.	.	.	.	.	.	.	.	.	56/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Ala2586Ser,ENST00000355072,;HTT,upstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000512068,;	7901	91	88	SUCCESS
FTLP10	100130017	.	GRCh37	4	69078095	69078095	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	80	410	0	ENST00000503647.1:n.1408G>T		p.*470*	ENST00000503647		37		0	.	.	.	.	.	T	H/N	protein_coding	YES	.	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATGAACAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5,Gene3D:1ivzA00,Superfamily_domains:0047452	.	.	ENSP00000391149	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000432593	Transcript	.	.	ENSG00000226894	37262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.03)	.	TM11L_HUMAN	TMPRSS11BNL	HGNC	.	.	UPI0000251F2C	SNV	TMPRSS11BNL,missense_variant,p.His37Asn,ENST00000432593,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000504453,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000510782,;FTLP10,non_coding_transcript_exon_variant,,ENST00000503647,;RP11-646E20.6,intron_variant,,ENST00000511720,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000514295,;	276	410	281	SUCCESS
FAM47E-STBD1	100631383	.	GRCh37	4	77230621	77230621	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147970715	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	31	143	0	ENST00000237642.6:c.545G>T	p.Arg182Ile	p.R182I	ENST00000237642	NM_003943.4	182	aGa/aTa	0	.	A:0.0008	.	A:0	.	T	R/I	protein_coding	YES	CCDS3578.1	545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGAGCTA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15048,hmmpanther:PTHR15048:SF0	A:0	.	ENSP00000237642	A:0.001	2/2	.	.	.	.	.	.	.	.	rs147970715	2/2	PASS	ENST00000237642	Transcript	.	A:0.0004	ENSG00000118804	44667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	A:0	deleterious(0.02)	.	STBD1_HUMAN	FAM47E-STBD1	HGNC	B3KMK8_HUMAN	.	UPI000006DB9D	SNV	FAM47E-STBD1,missense_variant,p.Arg33Ile,ENST00000539752,;FAM47E-STBD1,missense_variant,p.Arg182Ile,ENST00000237642,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514140,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000515604,;CCDC158,downstream_gene_variant,,ENST00000388914,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514365,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;CCDC158,downstream_gene_variant,,ENST00000504667,;	1289	143	117	SUCCESS
ETF1	2107	.	GRCh37	5	137844000	137844000	+	synonymous_variant	Silent	SNP	G	G	A	rs765833712	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	18	82	0	ENST00000360541.5:c.1308C>T	p.Asp436=	p.D436=	ENST00000360541	NM_004730.3	436	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS4207.1	1308	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAGTCATC	NONE	byFrequency	.	hmmpanther:PTHR10113,hmmpanther:PTHR10113:SF7,Gene3D:3.30.1330.30	.	.	ENSP00000353741	.	11/11	.	.	.	.	.	.	.	.	rs765833712	11/11	PASS	ENST00000360541	Transcript	.	.	ENSG00000120705	3477	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERF1_HUMAN	ETF1	HGNC	Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN	.	UPI00001110CB	SNV	ETF1,synonymous_variant,p.%3D,ENST00000503014,;ETF1,synonymous_variant,p.%3D,ENST00000360541,;ETF1,synonymous_variant,p.%3D,ENST00000499810,;ETF1,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000512198,;ETF1,downstream_gene_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000503183,;	1530	82	115	SUCCESS
GABRA1	2554	.	GRCh37	5	161300201	161300201	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	38	154	0	ENST00000023897.6:c.334C>A	p.Arg112=	p.R112=	ENST00000023897	NM_000806.5	112	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4357.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCGGTTA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR01079	.	.	ENSP00000393097	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,synonymous_variant,p.%3D,ENST00000444819,;GABRA1,synonymous_variant,p.%3D,ENST00000420560,;GABRA1,synonymous_variant,p.%3D,ENST00000437025,;GABRA1,synonymous_variant,p.%3D,ENST00000519621,;GABRA1,synonymous_variant,p.%3D,ENST00000428797,;GABRA1,synonymous_variant,p.%3D,ENST00000393943,;GABRA1,synonymous_variant,p.%3D,ENST00000023897,;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,;	689	154	124	SUCCESS
NSD1	64324	.	GRCh37	5	176722236	176722236	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	130	0	ENST00000439151.2:c.7867A>C	p.Ser2623Arg	p.S2623R	ENST00000439151	NM_022455.4	2623	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS4412.1	7867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAAGTCCC	NONE	.	.	.	.	.	ENSP00000395929	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.12)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Ser2520Arg,ENST00000361032,;NSD1,missense_variant,p.Ser2354Arg,ENST00000354179,;NSD1,missense_variant,p.Ser2623Arg,ENST00000439151,;NSD1,missense_variant,p.Ser2354Arg,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000513736,;	7912	130	99	SUCCESS
MGAT1	4245	.	GRCh37	5	180219412	180219412	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775360849	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	95	0	ENST00000307826.4:c.560G>T	p.Arg187Leu	p.R187L	ENST00000307826	NM_001114619.1	187	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS4458.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCGCGCG	NONE	.	.	Superfamily_domains:SSF53448,Pfam_domain:PF03071,Gene3D:3.90.550.10,hmmpanther:PTHR10468,hmmpanther:PTHR10468:SF0	.	.	ENSP00000404718	.	3/3	.	.	.	.	.	.	.	.	rs775360849	3/3	PASS	ENST00000446023	Transcript	.	.	ENSG00000131446	7044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	MGAT1_HUMAN	MGAT1	HGNC	Q59G70_HUMAN,D6RIS2_HUMAN,D6RHZ8_HUMAN,D6RF69_HUMAN,D6RD15_HUMAN,D6RBS3_HUMAN,D6RB69_HUMAN,D6RAK2_HUMAN,D6RA48_HUMAN,D6R9U2_HUMAN	.	UPI000013CDF1	SNV	MGAT1,missense_variant,p.Arg187Leu,ENST00000446023,;MGAT1,missense_variant,p.Arg187Leu,ENST00000393340,;MGAT1,missense_variant,p.Arg187Leu,ENST00000307826,;MGAT1,missense_variant,p.Arg187Leu,ENST00000427865,;MGAT1,missense_variant,p.Arg187Leu,ENST00000333055,;MGAT1,missense_variant,p.Arg187Leu,ENST00000504671,;MGAT1,downstream_gene_variant,,ENST00000514283,;MGAT1,downstream_gene_variant,,ENST00000507384,;MGAT1,downstream_gene_variant,,ENST00000514438,;MGAT1,downstream_gene_variant,,ENST00000506269,;MGAT1,downstream_gene_variant,,ENST00000512695,;MGAT1,downstream_gene_variant,,ENST00000513431,;MGAT1,downstream_gene_variant,,ENST00000506889,;MGAT1,downstream_gene_variant,,ENST00000502678,;CTC-205M6.5,upstream_gene_variant,,ENST00000562870,;MGAT1,downstream_gene_variant,,ENST00000505682,;MGAT1,downstream_gene_variant,,ENST00000504385,;MGAT1,downstream_gene_variant,,ENST00000514760,;	1311	95	83	SUCCESS
BTNL8	79908	.	GRCh37	5	180375931	180375931	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	39	0	ENST00000340184.4:c.820A>C	p.Lys274Gln	p.K274Q	ENST00000340184	NM_001040462.2	274	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS43413.1	820	RADIA|SOMATICSNIPER|VARSCANS	.	GAAGAAAGCAC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF13,hmmpanther:PTHR24100	.	.	ENSP00000342197	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000340184	Transcript	.	.	ENSG00000113303	26131	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.43)	.	BTNL8_HUMAN	BTNL8	HGNC	D6RIR7_HUMAN	.	UPI00000389ED	SNV	BTNL8,missense_variant,p.Lys90Gln,ENST00000533815,;BTNL8,missense_variant,p.Lys274Gln,ENST00000340184,;BTNL8,missense_variant,p.Lys67Gln,ENST00000505126,;BTNL8,missense_variant,p.Lys310Thr,ENST00000508408,;BTNL8,missense_variant,p.Lys317Thr,ENST00000231229,;BTNL8,missense_variant,p.Lys149Gln,ENST00000400707,;BTNL8,missense_variant,p.Lys158Gln,ENST00000511704,;BTNL8,3_prime_UTR_variant,,ENST00000503543,;BTNL8,downstream_gene_variant,,ENST00000514448,;BTNL8,downstream_gene_variant,,ENST00000513442,;RPS29P12,downstream_gene_variant,,ENST00000460178,;	1026	39	24	SUCCESS
ENPP3	5169	.	GRCh37	6	132068028	132068028	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1272366803	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	32	203	0	ENST00000357639.3:c.2560A>G	p.Lys854Glu	p.K854E	ENST00000357639	NM_005021.3	854	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS5148.1	2560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATAAAGTG	NONE	.	.	SMART_domains:SM00892,SMART_domains:SM00477	.	.	ENSP00000406261	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000414305	Transcript	.	.	ENSG00000154269	3358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.03)	.	ENPP3_HUMAN	ENPP3	HGNC	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN	.	UPI000013DD9F	SNV	ENPP3,missense_variant,p.Lys854Glu,ENST00000357639,;ENPP3,missense_variant,p.Lys854Glu,ENST00000414305,;ENPP3,3_prime_UTR_variant,,ENST00000358229,;	2888	203	141	SUCCESS
TNXB	7148	.	GRCh37	6	32038106	32038106	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	30	176	0	ENST00000375244.3:c.5076C>A	p.Leu1692=	p.L1692=	ENST00000375244		1692	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	.	.	5076	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGAGGCG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	14/44	.	.	.	.	.	.	.	.	.	14/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,synonymous_variant,p.%3D,ENST00000375247,;TNXB,synonymous_variant,p.%3D,ENST00000375244,;	5278	176	153	SUCCESS
FKBP5	2289	.	GRCh37	6	35604882	35604882	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	187	0	ENST00000357266.4:c.159T>G	p.Val53=	p.V53=	ENST00000357266	NM_004117.3	53	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS4808.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAAACTTT	NONE	.	.	PROSITE_profiles:PS50059,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF26,Pfam_domain:PF00254,Gene3D:3.10.50.40,Superfamily_domains:SSF54534	.	.	ENSP00000444810	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000536438	Transcript	.	.	ENSG00000096060	3721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKBP5_HUMAN	FKBP5	HGNC	B7Z7Z8_HUMAN	.	UPI000000D9EE	SNV	FKBP5,synonymous_variant,p.%3D,ENST00000536438,;FKBP5,synonymous_variant,p.%3D,ENST00000539068,;FKBP5,synonymous_variant,p.%3D,ENST00000357266,;FKBP5,synonymous_variant,p.%3D,ENST00000542713,;FKBP5,intron_variant,,ENST00000540787,;	475	187	109	SUCCESS
RNF8	9025	.	GRCh37	6	37321934	37321934	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs776349584	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	51	208	0	ENST00000373479.4:c.-7G>A		p.*3*	ENST00000373479	NM_003958.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4834.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGAGTAGGC	NONE	.	.	.	.	.	ENSP00000362578	.	1/8	.	.	.	.	.	.	.	.	rs776349584	1/8	PASS	ENST00000373479	Transcript	.	.	ENSG00000112130	10071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF8_HUMAN	RNF8	HGNC	C9J858_HUMAN	.	UPI000013437B	SNV	RNF8,5_prime_UTR_variant,,ENST00000373479,;RNF8,5_prime_UTR_variant,,ENST00000394443,;RNF8,5_prime_UTR_variant,,ENST00000469731,;RNF8,intron_variant,,ENST00000487950,;RNF8,non_coding_transcript_exon_variant,,ENST00000479516,;RNF8,5_prime_UTR_variant,,ENST00000229866,;RNF8,5_prime_UTR_variant,,ENST00000494320,;RNF8,5_prime_UTR_variant,,ENST00000469316,;	187	208	177	SUCCESS
TMEM30A	55754	.	GRCh37	6	75970580	75970580	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	63	236	0	ENST00000230461.6:c.501A>G	p.Pro167=	p.P167=	ENST00000230461	NM_018247.3	167	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4983.1	501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATTGGTTT	NONE	.	.	hmmpanther:PTHR10926,hmmpanther:PTHR10926:SF17,Pfam_domain:PF03381,PIRSF_domain:PIRSF015840	.	.	ENSP00000230461	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000230461	Transcript	.	.	ENSG00000112697	16667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC50A_HUMAN	TMEM30A	HGNC	E5RG19_HUMAN	.	UPI0000071AE1	SNV	TMEM30A,synonymous_variant,p.%3D,ENST00000370050,;TMEM30A,synonymous_variant,p.%3D,ENST00000230461,;TMEM30A,synonymous_variant,p.%3D,ENST00000475111,;TMEM30A,synonymous_variant,p.%3D,ENST00000518161,;	831	236	175	SUCCESS
KIAA1549	57670	.	GRCh37	7	138554406	138554406	+	synonymous_variant	Silent	SNP	G	G	A	rs575482000	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	27	141	0	ENST00000422774.1:c.4653C>T	p.Asp1551=	p.D1551=	ENST00000422774		1551	gaC/gaT	0	.	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS56513.1	4653	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGTCTAC	NONE	by1000G	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	A:0	.	ENSP00000416040	A:0	14/20	.	.	.	.	.	.	.	.	rs575482000,COSM1239244,COSM1239243	14/20	PASS	ENST00000422774	Transcript	.	A:0.0002	ENSG00000122778	22219	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	A:0.001	.	0,1,1	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,synonymous_variant,p.%3D,ENST00000422774,;KIAA1549,synonymous_variant,p.%3D,ENST00000242365,;KIAA1549,synonymous_variant,p.%3D,ENST00000440172,;	4702	141	172	SUCCESS
WBSCR17	0	.	GRCh37	7	70880904	70880904	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	141	0	ENST00000333538.5:c.619G>A	p.Val207Ile	p.V207I	ENST00000333538	NM_022479.2	207	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS5540.1	619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGTCCAC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000329654	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.56)	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Val207Ile,ENST00000333538,;WBSCR17,missense_variant,p.Val185Ile,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	1253	141	77	SUCCESS
KCNQ3	3786	.	GRCh37	8	133153569	133153569	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	43	79	0	ENST00000388996.4:c.1272G>A	p.Leu424=	p.L424=	ENST00000388996	NM_004519.3	424	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34943.1	1272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCAGCTT	NONE	.	.	hmmpanther:PTHR11537:SF5,hmmpanther:PTHR11537	.	.	ENSP00000373648	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,synonymous_variant,p.%3D,ENST00000521134,;KCNQ3,synonymous_variant,p.%3D,ENST00000388996,;KCNQ3,synonymous_variant,p.%3D,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	1693	79	97	SUCCESS
CHD7	55636	.	GRCh37	8	61765595	61765595	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	86	217	0	ENST00000423902.2:c.6311C>T	p.Ala2104Val	p.A2104V	ENST00000423902	NM_017780.3	2104	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47865.1	6311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCTGCTA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	.	.	ENSP00000392028	.	31/38	.	.	.	.	.	.	.	.	.	31/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,missense_variant,p.Ala2104Val,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000531695,;	6790	217	198	SUCCESS
PREX2	80243	.	GRCh37	8	69104651	69104651	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	65	0	ENST00000288368.4:c.4495G>A	p.Ala1499Thr	p.A1499T	ENST00000288368	NM_024870.2	1499	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6201.1	4495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGCAAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	37/40	.	.	.	.	.	.	.	.	COSM1221964	37/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.014)	.	tolerated(0.2)	1	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ala1499Thr,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000522247,;PREX2,non_coding_transcript_exon_variant,,ENST00000520235,;	4772	65	62	SUCCESS
SWI5	375757	.	GRCh37	9	131038431	131038431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769608712	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	59	0	ENST00000320188.5:c.7C>T	p.Arg3Trp	p.R3W	ENST00000320188	NM_001040011.1	3	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS43883.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCGGCGT	NONE	.	.	.	.	.	ENSP00000316609	.	1/5	.	.	.	.	.	.	.	.	rs769608712	1/5	PASS	ENST00000320188	Transcript	.	.	ENSG00000175854	31412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.689)	.	deleterious_low_confidence(0)	.	SWI5_HUMAN	SWI5	HGNC	.	.	UPI00001D76F5	SNV	SWI5,missense_variant,p.Arg3Trp,ENST00000320188,;SWI5,intron_variant,,ENST00000372898,;SWI5,intron_variant,,ENST00000495313,;GOLGA2,upstream_gene_variant,,ENST00000609374,;GOLGA2,upstream_gene_variant,,ENST00000458730,;GOLGA2,upstream_gene_variant,,ENST00000490628,;GOLGA2,upstream_gene_variant,,ENST00000421699,;SWI5,upstream_gene_variant,,ENST00000418976,;SWI5,upstream_gene_variant,,ENST00000419867,;SWI5,upstream_gene_variant,,ENST00000608796,;GOLGA2,upstream_gene_variant,,ENST00000450617,;	7	59	45	SUCCESS
TSC1	7248	.	GRCh37	9	135779080	135779080	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	91	0	ENST00000298552.3:c.2166G>T	p.Lys722Asn	p.K722N	ENST00000298552	NM_001162426.1	722	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS6956.1	2166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCTTGCG	NONE	.	.	hmmpanther:PTHR15154	.	.	ENSP00000298552	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0)	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,missense_variant,p.Lys722Asn,ENST00000298552,;TSC1,missense_variant,p.Lys671Asn,ENST00000545250,;TSC1,missense_variant,p.Lys722Asn,ENST00000440111,;	2388	91	73	SUCCESS
GPSM1	26086	.	GRCh37	9	139250846	139250846	+	synonymous_variant	Silent	SNP	C	C	T	rs781889669	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	70	0	ENST00000440944.1:c.1665C>T	p.Ile555=	p.I555=	ENST00000440944	NM_001145638.2	555	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS48055.1	1665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCGCCAG	NONE	byFrequency	.	PROSITE_profiles:PS50877,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF36,Pfam_domain:PF02188,SMART_domains:SM00390	.	.	ENSP00000392828	.	13/14	.	.	.	.	.	.	.	.	rs781889669	13/14	PASS	ENST00000440944	Transcript	.	.	ENSG00000160360	17858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPSM1_HUMAN	GPSM1	HGNC	.	.	UPI0000481581	SNV	GPSM1,synonymous_variant,p.%3D,ENST00000440944,;GPSM1,synonymous_variant,p.%3D,ENST00000354753,;GPSM1,synonymous_variant,p.%3D,ENST00000291775,;GPSM1,synonymous_variant,p.%3D,ENST00000392944,;GPSM1,synonymous_variant,p.%3D,ENST00000429455,;DNLZ,downstream_gene_variant,,ENST00000371739,;	1885	70	59	SUCCESS
GRIN1	2902	.	GRCh37	9	140036523	140036523	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	31	254	0	ENST00000371561.3:c.317C>T	p.Pro106Leu	p.P106L	ENST00000371561	NM_007327.3	106	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS55354.1	317	RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCTGTCT	NONE	.	.	hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000360608	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.41)	.	deleterious(0.01)	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Pro106Leu,ENST00000371555,;GRIN1,missense_variant,p.Pro106Leu,ENST00000315048,;GRIN1,missense_variant,p.Pro106Leu,ENST00000371561,;GRIN1,missense_variant,p.Pro106Leu,ENST00000371550,;GRIN1,missense_variant,p.Pro106Leu,ENST00000350902,;GRIN1,missense_variant,p.Pro106Leu,ENST00000371553,;GRIN1,missense_variant,p.Pro106Leu,ENST00000371559,;GRIN1,missense_variant,p.Pro106Leu,ENST00000371546,;GRIN1,missense_variant,p.Pro106Leu,ENST00000371560,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;	323	254	168	SUCCESS
PGM5	5239	.	GRCh37	9	71144546	71144546	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs190312271	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	29	129	0	ENST00000396396.1:c.1678C>G	p.Arg560Gly	p.R560G	ENST00000396396	NM_021965.3	560	Cgg/Ggg	0	T:0.002	T:0.003	.	T:0	.	G	R/G	protein_coding	YES	CCDS6622.2	1678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCGGAGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Gene3D:3.30.310.50,Superfamily_domains:SSF55957	T:0	T:0	ENSP00000379678	T:0	11/11	.	.	.	.	.	.	.	.	rs190312271	11/11	PASS	ENST00000396396	Transcript	.	T:0.0008	ENSG00000154330	8908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	T:0	deleterious(0)	.	PGM5_HUMAN	PGM5	HGNC	.	.	UPI0000210ABF	SNV	PGM5,missense_variant,p.Arg560Gly,ENST00000396396,;PGM5,non_coding_transcript_exon_variant,,ENST00000496758,;	1907	129	92	SUCCESS
NTRK2	4915	.	GRCh37	9	87339221	87339221	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs997635600	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	33	171	0	ENST00000277120.3:c.803C>T	p.Ala268Val	p.A268V	ENST00000277120		268	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6671.1	803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCGGAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726,Prints_domain:PR01939	.	.	ENSP00000365387	.	10/21	.	.	.	.	.	.	.	.	COSM3908573,COSM3908574,COSM3908572,COSM3908575	10/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.999)	.	tolerated(0.06)	1,1,1,1	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,missense_variant,p.Ala268Val,ENST00000323115,;NTRK2,missense_variant,p.Ala112Val,ENST00000395866,;NTRK2,missense_variant,p.Ala268Val,ENST00000395882,;NTRK2,missense_variant,p.Ala268Val,ENST00000376213,;NTRK2,missense_variant,p.Ala268Val,ENST00000376208,;NTRK2,missense_variant,p.Ala268Val,ENST00000277120,;NTRK2,missense_variant,p.Ala268Val,ENST00000376214,;NTRK2,missense_variant,p.Ala268Val,ENST00000359847,;NTRK2,missense_variant,p.Ala268Val,ENST00000304053,;	1741	171	122	SUCCESS
ANKRD19P	138649	.	GRCh37	9	95584516	95584516	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	90	0	ENST00000473204.1:n.1042T>C		p.*348*	ENST00000473204				0	.	.	.	.	.	C	.	snRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACATAAAAA	NONE	.	1155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000516963	Transcript	.	.	ENSG00000252772	47677	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-714P	HGNC	.	.	.	SNV	RNU6-714P,downstream_gene_variant,,ENST00000516963,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000473204,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000492083,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000465736,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000464387,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000460854,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000338192,;ANKRD19P,non_coding_transcript_exon_variant,,ENST00000375504,;	.	90	78	SUCCESS
GLUD2	2747	.	GRCh37	X	120181981	120181981	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	37	219	0	ENST00000328078.1:c.443G>A	p.Gly148Glu	p.G148E	ENST00000328078	NM_012084.3	148	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS14603.1	443	RADIA|SOMATICSNIPER|VARSCANS	.	CAAGGGAGGTA	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.192.10,Pfam_domain:PF02812,Superfamily_domains:SSF53223	.	.	ENSP00000327589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328078	Transcript	.	.	ENSG00000182890	4336	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	DHE4_HUMAN	GLUD2	HGNC	Q9BSD0_HUMAN	.	UPI0000129301	SNV	GLUD2,missense_variant,p.Gly148Glu,ENST00000328078,;	520	219	131	SUCCESS
SLITRK2	84631	.	GRCh37	X	144906050	144906050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	109	0	ENST00000370490.1:c.2107C>A	p.Gln703Lys	p.Q703K	ENST00000370490		703	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS14680.1	2107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCAGAAG	NONE	.	.	hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.416)	.	tolerated(0.28)	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Gln703Lys,ENST00000370490,;SLITRK2,missense_variant,p.Gln703Lys,ENST00000434188,;SLITRK2,missense_variant,p.Gln703Lys,ENST00000428560,;SLITRK2,missense_variant,p.Gln703Lys,ENST00000413937,;SLITRK2,missense_variant,p.Gln703Lys,ENST00000447897,;SLITRK2,missense_variant,p.Gln703Lys,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	6362	109	96	SUCCESS
PLXNB3	5365	.	GRCh37	X	153032892	153032892	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	9	46	0	ENST00000361971.5:c.610G>T	p.Ala204Ser	p.A204S	ENST00000361971	NM_005393.2	204	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS55536.1	679	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGCCATC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000442736	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.69)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Ala227Ser,ENST00000538966,;PLXNB3,missense_variant,p.Ala204Ser,ENST00000361971,;PLXNB3,intron_variant,,ENST00000538543,;PLXNB3,intron_variant,,ENST00000538776,;PLXNB3,intron_variant,,ENST00000538282,;U52111.14,upstream_gene_variant,,ENST00000416854,;U52111.14,upstream_gene_variant,,ENST00000434284,;	950	46	59	SUCCESS
DMD	1756	.	GRCh37	X	32490308	32490308	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	35	196	0	ENST00000357033.4:c.2922C>A	p.Ile974=	p.I974=	ENST00000357033	NM_004007.2	974	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS14233.1	2922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGATTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	22/79	.	.	.	.	.	.	.	.	COSM1159188,COSM1159189,COSM1159190	22/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,synonymous_variant,p.%3D,ENST00000357033,;DMD,synonymous_variant,p.%3D,ENST00000378677,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	3129	196	136	SUCCESS
CXorf22	0	.	GRCh37	X	35989740	35989740	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	121	0	ENST00000297866.5:c.2008T>G	p.Leu670Val	p.L670V	ENST00000297866	NM_152632.3	670	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS14237.2	2008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCTTAGAG	NONE	.	.	hmmpanther:PTHR23053	.	.	ENSP00000297866	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000297866	Transcript	.	.	ENSG00000165164	28546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.409)	.	deleterious(0.01)	.	CX022_HUMAN	CXorf22	HGNC	.	.	UPI000022DD27	SNV	CXorf22,missense_variant,p.Leu670Val,ENST00000297866,;CXorf22,missense_variant,p.Leu670Val,ENST00000493930,;	2074	121	78	SUCCESS
CCDC22	28952	.	GRCh37	X	49105132	49105132	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	34	236	0	ENST00000376227.3:c.1368G>T	p.Leu456=	p.L456=	ENST00000376227	NM_014008.3	456	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14322.1	1368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTGCACCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15668,Pfam_domain:PF05667	.	.	ENSP00000365401	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000376227	Transcript	.	.	ENSG00000101997	28909	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD22_HUMAN	CCDC22	HGNC	.	.	UPI000006FFC7	SNV	CCDC22,synonymous_variant,p.%3D,ENST00000376227,;FOXP3,downstream_gene_variant,,ENST00000557224,;FOXP3,downstream_gene_variant,,ENST00000376199,;FOXP3,downstream_gene_variant,,ENST00000376197,;FOXP3,downstream_gene_variant,,ENST00000376207,;FOXP3,downstream_gene_variant,,ENST00000518685,;FOXP3,downstream_gene_variant,,ENST00000455775,;	1538	236	155	SUCCESS
SNX12	29934	.	GRCh37	X	70282707	70282707	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	117	0	ENST00000374274.3:c.258C>T	p.Ser86=	p.S86=	ENST00000374274	NM_001256188.1	86	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14405.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGCTATC	NONE	.	.	PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF72,hmmpanther:PTHR10555,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	.	.	ENSP00000363392	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000374274	Transcript	.	.	ENSG00000147164	14976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX12_HUMAN	SNX12	HGNC	Q3SYF1_HUMAN	.	UPI000000409E	SNV	SNX12,synonymous_variant,p.%3D,ENST00000276105,;SNX12,synonymous_variant,p.%3D,ENST00000374274,;SNX12,non_coding_transcript_exon_variant,,ENST00000490561,;SNX12,non_coding_transcript_exon_variant,,ENST00000483560,;SNX12,non_coding_transcript_exon_variant,,ENST00000465030,;	375	117	79	SUCCESS
PHKA1	5255	.	GRCh37	X	71915637	71915637	+	synonymous_variant	Silent	SNP	C	C	T	rs1569452033	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	333	149	786	0	ENST00000373542.4:c.375G>A	p.Val125=	p.V125=	ENST00000373542	NM_002637.3	125	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14421.1	375	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TCACCCACTAC	NONE	.	.	hmmpanther:PTHR10749:SF4,hmmpanther:PTHR10749,Gene3D:1.50.10.10,Pfam_domain:PF00723,Superfamily_domains:SSF48208	.	.	ENSP00000362643	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000373542	Transcript	.	.	ENSG00000067177	8925	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KPB1_HUMAN	PHKA1	HGNC	.	.	UPI000013D340	SNV	PHKA1,synonymous_variant,p.%3D,ENST00000373545,;PHKA1,synonymous_variant,p.%3D,ENST00000339490,;PHKA1,synonymous_variant,p.%3D,ENST00000373542,;PHKA1,synonymous_variant,p.%3D,ENST00000541944,;PHKA1,synonymous_variant,p.%3D,ENST00000373539,;PHKA1-AS1,intron_variant,,ENST00000420998,;	535	787	483	SUCCESS
BTRC	8945	.	GRCh37	10	103281409	103281409	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758642861	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	46	92	0	ENST00000370187.3:c.338A>T	p.Asn113Ile	p.N113I	ENST00000370187	NM_033637.3	113	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS7512.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAATGGCA	NONE	.	.	hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844	.	.	ENSP00000359206	.	5/15	.	.	.	.	.	.	.	.	rs758642861	5/15	PASS	ENST00000370187	Transcript	1	.	ENSG00000166167	1144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.02)	.	FBW1A_HUMAN	BTRC	HGNC	Q5T1W7_HUMAN	.	UPI00000012B5	SNV	BTRC,missense_variant,p.Asn77Ile,ENST00000408038,;BTRC,missense_variant,p.Asn95Ile,ENST00000370183,;BTRC,missense_variant,p.Asn113Ile,ENST00000370187,;BTRC,missense_variant,p.Asn72Ile,ENST00000393441,;BTRC,non_coding_transcript_exon_variant,,ENST00000475200,;BTRC,non_coding_transcript_exon_variant,,ENST00000465182,;	456	92	135	SUCCESS
CUBN	8029	.	GRCh37	10	17142090	17142090	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	101	179	0	ENST00000377833.4:c.1679G>C	p.Ser560Thr	p.S560T	ENST00000377833	NM_001081.3	560	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS7113.1	1679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCACTGCTG	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	14/67	.	.	.	.	.	.	.	.	COSM397922	14/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.789)	.	tolerated(0.12)	1	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ser560Thr,ENST00000377833,;	1745	179	235	SUCCESS
GRIA4	2893	.	GRCh37	11	105781253	105781253	+	synonymous_variant	Silent	SNP	G	G	T	rs777736250	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	50	202	0	ENST00000282499.5:c.1251G>T	p.Val417=	p.V417=	ENST00000282499	NM_000829.3	417	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8333.1	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGGTTGT	NONE	byFrequency	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	10/17	.	.	.	.	.	.	.	.	rs777736250	10/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,synonymous_variant,p.%3D,ENST00000282499,;GRIA4,synonymous_variant,p.%3D,ENST00000530497,;GRIA4,synonymous_variant,p.%3D,ENST00000393127,;GRIA4,synonymous_variant,p.%3D,ENST00000525187,;GRIA4,synonymous_variant,p.%3D,ENST00000428631,;GRIA4,synonymous_variant,p.%3D,ENST00000393125,;	1697	202	156	SUCCESS
SPATA19	219938	.	GRCh37	11	133714476	133714476	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs138068697	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	99	199	0	ENST00000299140.3:c.195G>C	p.Gln65His	p.Q65H	ENST00000299140	NM_174927.1	65	caG/caC	0	T:0.0002	T:0	.	T:0.0014	.	G	Q/H	protein_coding	YES	CCDS8493.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCTGGGA	NONE	byCluster|by1000G	.	Pfam_domain:PF15212	T:0	T:0	ENSP00000299140	T:0	3/7	.	.	.	.	.	.	.	.	rs138068697	3/7	PASS	ENST00000299140	Transcript	.	T:0.0002	ENSG00000166118	30614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	T:0	tolerated(0.11)	.	SPT19_HUMAN	SPATA19	HGNC	.	.	UPI000007021D	SNV	SPATA19,missense_variant,p.Gln65His,ENST00000532889,;SPATA19,missense_variant,p.Gln65His,ENST00000299140,;	250	199	166	SUCCESS
TH	7054	.	GRCh37	11	2190970	2190970	+	synonymous_variant	Silent	SNP	C	C	T	rs779373469	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	80	177	0	ENST00000381178.1:c.315G>A	p.Glu105=	p.E105=	ENST00000381178	NM_199292.2	105	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS7731.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTCAAA	NONE	.	.	PIRSF_domain:PIRSF000336,TIGRFAM_domain:TIGR01269,Gene3D:1.10.800.10,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF18	.	.	ENSP00000370571	.	3/14	.	.	.	.	.	.	.	.	rs779373469	3/14	PASS	ENST00000381178	Transcript	.	.	ENSG00000180176	11782	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TY3H_HUMAN	TH	HGNC	Q9UQ57_HUMAN,Q9NP14_HUMAN,Q8IZE1_HUMAN,Q6XS77_HUMAN,P78428_HUMAN	.	UPI00001412DD	SNV	TH,synonymous_variant,p.%3D,ENST00000352909,;TH,synonymous_variant,p.%3D,ENST00000381178,;TH,synonymous_variant,p.%3D,ENST00000333684,;TH,synonymous_variant,p.%3D,ENST00000381175,;TH,upstream_gene_variant,,ENST00000412076,;MIR4686,upstream_gene_variant,,ENST00000584128,;TH,intron_variant,,ENST00000324155,;TH,intron_variant,,ENST00000381168,;TH,upstream_gene_variant,,ENST00000469226,;TH,upstream_gene_variant,,ENST00000479437,;TH,upstream_gene_variant,,ENST00000461172,;TH,upstream_gene_variant,,ENST00000416223,;	334	177	142	SUCCESS
LIN7C	55327	.	GRCh37	11	27523454	27523454	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	25	88	0	ENST00000278193.2:c.51A>G	p.Ala17=	p.A17=	ENST00000278193	NM_018362.3	17	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS7864.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATTGCTCT	NONE	.	.	PROSITE_profiles:PS51022,hmmpanther:PTHR14063,Pfam_domain:PF02828,SMART_domains:SM00569,Superfamily_domains:SSF101288,PIRSF_domain:PIRSF038039	.	.	ENSP00000278193	.	2/5	.	.	.	.	.	.	.	.	COSM340906	2/5	PASS	ENST00000278193	Transcript	.	.	ENSG00000148943	17789	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LIN7C_HUMAN	LIN7C	HGNC	.	.	UPI000000BB45	SNV	LIN7C,synonymous_variant,p.%3D,ENST00000524596,;LIN7C,synonymous_variant,p.%3D,ENST00000278193,;BDNF-AS,upstream_gene_variant,,ENST00000502161,;BDNF-AS,upstream_gene_variant,,ENST00000501176,;BDNF-AS,upstream_gene_variant,,ENST00000530686,;BDNF-AS,upstream_gene_variant,,ENST00000499568,;BDNF-AS,upstream_gene_variant,,ENST00000532965,;BDNF-AS,upstream_gene_variant,,ENST00000499008,;BDNF-AS,upstream_gene_variant,,ENST00000500662,;	72	88	80	SUCCESS
APIP	51074	.	GRCh37	11	34904914	34904914	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745603170	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	322	163	479	0	ENST00000395787.3:c.599G>T	p.Trp200Leu	p.W200L	ENST00000395787	NM_015957.2	200	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS7895.1	599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCACACA	NONE	.	.	HAMAP:MF_03116,hmmpanther:PTHR10640,Gene3D:3.40.225.10,Pfam_domain:PF00596,TIGRFAM_domain:TIGR03328,SMART_domains:SM01007,Superfamily_domains:SSF53639	.	.	ENSP00000379133	.	6/7	.	.	.	.	.	.	.	.	rs745603170	6/7	PASS	ENST00000395787	Transcript	.	.	ENSG00000149089	17581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MTNB_HUMAN	APIP	HGNC	.	.	UPI00000411D1	SNV	APIP,missense_variant,p.Trp200Leu,ENST00000395787,;APIP,missense_variant,p.Trp217Leu,ENST00000278359,;APIP,non_coding_transcript_exon_variant,,ENST00000527830,;APIP,missense_variant,p.Trp153Leu,ENST00000532428,;	814	480	485	SUCCESS
OR51F1	256892	.	GRCh37	11	4790219	4790219	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	75	0	ENST00000380383.1:c.950T>C	p.Leu317Pro	p.L317P	ENST00000380383		317	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31359.1	929	MUTECT|MUSE	.	TTGTAAGCAGC	NONE	.	.	hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Superfamily_domains:SSF81321	.	.	ENSP00000345163	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343430	Transcript	.	.	ENSG00000188069	15196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(0.14)	.	.	OR51F1	HGNC	A6NLW9_HUMAN	.	UPI000016148C	SNV	OR51F1,missense_variant,p.Leu310Pro,ENST00000343430,;OR51F1,missense_variant,p.Leu317Pro,ENST00000380383,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	929	75	78	SUCCESS
TENM4	26011	.	GRCh37	11	78437179	78437179	+	synonymous_variant	Silent	SNP	C	C	A	rs369844183	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	220	129	421	0	ENST00000278550.7:c.3495G>T	p.Ala1165=	p.A1165=	ENST00000278550	NM_001098816.2	1165	gcG/gcT	0	T:0	.	.	.	.	A	A	protein_coding	YES	CCDS44688.1	3495	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TTGGACGCGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	T:0.0005	ENSP00000278550	.	23/34	.	.	.	.	.	.	.	.	rs369844183,COSM429934,COSM429935	23/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,synonymous_variant,p.%3D,ENST00000278550,;	3958	421	349	SUCCESS
HEPHL1	341208	.	GRCh37	11	93803697	93803697	+	synonymous_variant	Silent	SNP	C	C	T	rs557012995	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	39	139	0	ENST00000315765.9:c.1221C>T	p.Asn407=	p.N407=	ENST00000315765	NM_001098672.1	407	aaC/aaT	0	.	T:0	.	T:0.0014	.	T	N	protein_coding	YES	CCDS44710.1	1221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAACGCCTC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	T:0	.	ENSP00000313699	T:0	6/20	.	.	.	.	.	.	.	.	rs557012995	6/20	PASS	ENST00000315765	Transcript	.	T:0.0004	ENSG00000181333	30477	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	HPHL1_HUMAN	HEPHL1	HGNC	.	.	UPI0000237563	SNV	HEPHL1,synonymous_variant,p.%3D,ENST00000315765,;	1229	139	126	SUCCESS
TCP11L2	255394	.	GRCh37	12	106740125	106740125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	117	0	ENST00000299045.3:c.1377G>A	p.Met459Ile	p.M459I	ENST00000299045	NM_152772.1	459	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9104.1	1377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATGCCTCC	NONE	.	.	hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF17,Pfam_domain:PF05794	.	.	ENSP00000299045	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000299045	Transcript	.	.	ENSG00000166046	28627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.12)	.	T11L2_HUMAN	TCP11L2	HGNC	F8W1M6_HUMAN,F8W0R5_HUMAN,F8VW27_HUMAN,F8VRQ3_HUMAN	.	UPI000006D6D5	SNV	TCP11L2,missense_variant,p.Met459Ile,ENST00000299045,;	1551	117	97	SUCCESS
GIT2	9815	.	GRCh37	12	110390999	110390999	+	synonymous_variant	Silent	SNP	G	G	A	rs369471977	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	256	177	420	1	ENST00000355312.3:c.1140C>T	p.His380=	p.H380=	ENST00000355312	NM_057169.3	380	caC/caT	0	A:0	.	.	.	.	A	H	protein_coding	YES	CCDS9138.1	1140	RADIA|SOMATICSNIPER|VARSCANS	.	ACGCTGTGCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF215	.	A:0.0001	ENSP00000347464	.	13/20	.	.	.	.	.	.	.	.	rs369471977	13/20	PASS	ENST00000355312	Transcript	.	.	ENSG00000139436	4273	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GIT2_HUMAN	GIT2	HGNC	.	.	UPI000012B4C5	SNV	GIT2,synonymous_variant,p.%3D,ENST00000361006,;GIT2,synonymous_variant,p.%3D,ENST00000356259,;GIT2,synonymous_variant,p.%3D,ENST00000338373,;GIT2,synonymous_variant,p.%3D,ENST00000457474,;GIT2,synonymous_variant,p.%3D,ENST00000355312,;GIT2,synonymous_variant,p.%3D,ENST00000551209,;GIT2,synonymous_variant,p.%3D,ENST00000550186,;GIT2,synonymous_variant,p.%3D,ENST00000553118,;GIT2,synonymous_variant,p.%3D,ENST00000320063,;GIT2,synonymous_variant,p.%3D,ENST00000354574,;GIT2,synonymous_variant,p.%3D,ENST00000547815,;GIT2,synonymous_variant,p.%3D,ENST00000360185,;GIT2,intron_variant,,ENST00000343646,;TCHP,intron_variant,,ENST00000550780,;TCHP,3_prime_UTR_variant,,ENST00000544838,;GIT2,non_coding_transcript_exon_variant,,ENST00000549999,;GIT2,non_coding_transcript_exon_variant,,ENST00000547694,;GIT2,non_coding_transcript_exon_variant,,ENST00000551455,;	1140	421	433	SUCCESS
KNTC1	9735	.	GRCh37	12	123055607	123055607	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	14	222	0	ENST00000333479.7:c.1953G>C	p.Glu651Asp	p.E651D	ENST00000333479	NM_014708.4	651	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS45002.1	1953	MUTECT|MUSE	.	GCAGAGATATT	NONE	.	.	hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688	.	.	ENSP00000328236	.	24/64	.	.	.	.	.	.	.	.	COSM936252	24/64	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.956)	.	tolerated(0.06)	1	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	KNTC1,missense_variant,p.Glu614Asp,ENST00000450485,;KNTC1,missense_variant,p.Glu651Asp,ENST00000333479,;	2130	222	212	SUCCESS
ZNF10	7556	.	GRCh37	12	133727625	133727625	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	78	189	0	ENST00000248211.6:c.45C>G	p.Thr15=	p.T15=	ENST00000248211	NM_015394.4	15	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	.	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACCTTCAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000457704	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000540096	Transcript	.	.	ENSG00000256825	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2140B24.4	Clone_based_vega_gene	E7EV44_HUMAN,Q9H337_HUMAN,F5H467_HUMAN,F5H311_HUMAN,F5H0R3_HUMAN,F5GZ75_HUMAN	.	UPI0001AE6BD2	SNV	ZNF268,synonymous_variant,p.%3D,ENST00000416488,;ZNF10,synonymous_variant,p.%3D,ENST00000426665,;ZNF10,synonymous_variant,p.%3D,ENST00000536877,;ZNF10,synonymous_variant,p.%3D,ENST00000540609,;ZNF10,synonymous_variant,p.%3D,ENST00000538918,;CTD-2140B24.4,synonymous_variant,p.%3D,ENST00000540096,;ZNF10,synonymous_variant,p.%3D,ENST00000402932,;ZNF10,synonymous_variant,p.%3D,ENST00000248211,;ZNF10,5_prime_UTR_variant,,ENST00000537119,;ZNF10,non_coding_transcript_exon_variant,,ENST00000536704,;ZNF10,intron_variant,,ENST00000540927,;	135	189	189	SUCCESS
SYT10	341359	.	GRCh37	12	33579155	33579155	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	352	211	618	1	ENST00000228567.3:c.427G>A	p.Glu143Lys	p.E143K	ENST00000228567	NM_198992.3	143	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8732.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTGCTG	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46	.	.	ENSP00000228567	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000228567	Transcript	.	.	ENSG00000110975	19266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	SYT10_HUMAN	SYT10	HGNC	F5H2A8_HUMAN	.	UPI0000052B30	SNV	SYT10,missense_variant,p.Glu143Lys,ENST00000228567,;SYT10,5_prime_UTR_variant,,ENST00000535526,;SYT10,upstream_gene_variant,,ENST00000567656,;SYT10,missense_variant,p.Glu143Lys,ENST00000539102,;	724	619	563	SUCCESS
MARS	0	.	GRCh37	12	57910119	57910119	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	63	152	0	ENST00000262027.5:c.2555A>C	p.Gln852Pro	p.Q852P	ENST00000262027	NM_004990.3	852	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS8942.1	2555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACAAGTAT	NONE	.	.	Superfamily_domains:SSF47060,SMART_domains:SM00991,Gene3D:1.10.287.10,Pfam_domain:PF00458,PROSITE_patterns:PS00762,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69,PROSITE_profiles:PS51185	.	.	ENSP00000262027	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0)	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,missense_variant,p.Gln171Pro,ENST00000552914,;MARS,missense_variant,p.Gln852Pro,ENST00000262027,;MARS,missense_variant,p.Gln118Pro,ENST00000547665,;MARS,intron_variant,,ENST00000548944,;DDIT3,downstream_gene_variant,,ENST00000346473,;DDIT3,downstream_gene_variant,,ENST00000552740,;MBD6,upstream_gene_variant,,ENST00000548887,;DDIT3,downstream_gene_variant,,ENST00000551116,;MARS,downstream_gene_variant,,ENST00000315473,;MBD6,upstream_gene_variant,,ENST00000551351,;DDIT3,downstream_gene_variant,,ENST00000547526,;DDIT3,downstream_gene_variant,,ENST00000547303,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,splice_region_variant,,ENST00000551172,;MARS,splice_region_variant,,ENST00000537638,;MARS,splice_region_variant,,ENST00000552499,;MARS,splice_region_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000549603,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000551805,;	2689	152	141	SUCCESS
IFNG	3458	.	GRCh37	12	68551870	68551870	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	84	0	ENST00000229135.3:c.189T>A	p.Ser63Arg	p.S63R	ENST00000229135	NM_000619.2	63	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS8980.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCACTCTC	NONE	.	.	hmmpanther:PTHR11419,Pfam_domain:PF00714,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001936,Superfamily_domains:SSF47266	.	.	ENSP00000229135	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000229135	Transcript	.	.	ENSG00000111537	5438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	tolerated(0.07)	.	IFNG_HUMAN	IFNG	HGNC	A1Z2M2_HUMAN	.	UPI000002C7C8	SNV	IFNG,missense_variant,p.Ser63Arg,ENST00000229135,;IFNG-AS1,intron_variant,,ENST00000536914,;	321	84	103	SUCCESS
CSRP2	1466	.	GRCh37	12	77253334	77253334	+	synonymous_variant	Silent	SNP	A	A	G	rs202057442	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	141	305	1	ENST00000311083.5:c.498T>C	p.Tyr166=	p.Y166=	ENST00000311083	NM_001321.1	166	taT/taC	0	.	G:0	.	G:0	.	G	Y	protein_coding	YES	CCDS9015.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAATAGAT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24215:SF3,hmmpanther:PTHR24215,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	G:0	.	ENSP00000310901	G:0	5/6	.	.	.	.	.	.	.	.	rs202057442	5/6	common_in_exac	ENST00000311083	Transcript	.	G:0.0008	ENSG00000175183	2470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0041	.	.	CSRP2_HUMAN	CSRP2	HGNC	.	.	UPI000014104B	SNV	CSRP2,synonymous_variant,p.%3D,ENST00000547435,;CSRP2,synonymous_variant,p.%3D,ENST00000552330,;CSRP2,synonymous_variant,p.%3D,ENST00000311083,;CSRP2,synonymous_variant,p.%3D,ENST00000546966,;CSRP2,non_coding_transcript_exon_variant,,ENST00000548783,;	622	306	298	SUCCESS
RASSF9	9182	.	GRCh37	12	86198974	86198974	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1053694318	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	132	0	ENST00000361228.3:c.814C>T	p.Arg272Ter	p.R272*	ENST00000361228	NM_005447.3	272	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS44950.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGTTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10	.	.	ENSP00000354884	.	2/2	.	.	.	.	.	.	.	.	COSM258676,COSM258677	2/2	PASS	ENST00000361228	Transcript	.	.	ENSG00000198774	15739	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	RASF9_HUMAN	RASSF9	HGNC	.	.	UPI000003E7E4	SNV	RASSF9,stop_gained,p.Arg272Ter,ENST00000361228,;	1183	132	105	SUCCESS
ATP8A2	51761	.	GRCh37	13	26273474	26273474	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	42	77	0	ENST00000381655.2:c.2375T>C	p.Ile792Thr	p.I792T	ENST00000381655	NM_016529.4	792	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS41873.1	2375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATATGCT	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	.	.	ENSP00000371070	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Ile752Thr,ENST00000255283,;ATP8A2,missense_variant,p.Ile792Thr,ENST00000381655,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,missense_variant,p.Ile632Thr,ENST00000281620,;	2517	77	83	SUCCESS
SLITRK1	114798	.	GRCh37	13	84453981	84453981	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs754943039	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	59	98	0	ENST00000377084.2:c.1662C>G	p.Ser554Arg	p.S554R	ENST00000377084	NM_052910.2	554	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS9464.1	1662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGCTCAT	NONE	.	.	hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	rs754943039,COSM4048651	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.059)	.	tolerated(0.07)	0,1	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,missense_variant,p.Ser554Arg,ENST00000377084,;	2548	98	97	SUCCESS
SPTB	6710	.	GRCh37	14	65239468	65239468	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749332448	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	63	128	1	ENST00000389721.5:c.5383G>A	p.Ala1795Thr	p.A1795T	ENST00000389721	NM_000347.5	1795	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32099.1	5383	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGGCCA	NONE	byFrequency	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	.	.	ENSP00000374372	.	25/35	.	.	.	.	.	.	.	.	rs749332448	25/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.415)	.	tolerated(0.12)	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,missense_variant,p.Ala1795Thr,ENST00000389721,;SPTB,missense_variant,p.Ala1795Thr,ENST00000556626,;SPTB,missense_variant,p.Ala460Thr,ENST00000553938,;SPTB,missense_variant,p.Ala1795Thr,ENST00000389722,;SPTB,missense_variant,p.Ala1795Thr,ENST00000542895,;SPTB,missense_variant,p.Ala1795Thr,ENST00000389720,;SPTB,upstream_gene_variant,,ENST00000542694,;	5437	130	71	SUCCESS
COX5A	9377	.	GRCh37	15	75221502	75221502	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	40	172	0	ENST00000322347.6:c.172A>G	p.Thr58Ala	p.T58A	ENST00000322347	NM_004255.3	58	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10273.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGTTACCC	NONE	.	.	hmmpanther:PTHR14200,hmmpanther:PTHR14200:SF11,Gene3D:1v54E00,Pfam_domain:PF02284,Superfamily_domains:0053246	.	.	ENSP00000317780	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000322347	Transcript	.	.	ENSG00000178741	2267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.79)	.	COX5A_HUMAN	COX5A	HGNC	Q71UP1_HUMAN,H3BRM5_HUMAN	.	UPI000007112F	SNV	COX5A,missense_variant,p.Thr58Ala,ENST00000562233,;COX5A,missense_variant,p.Thr58Ala,ENST00000322347,;COX5A,missense_variant,p.Thr58Ala,ENST00000568783,;COX5A,missense_variant,p.Thr58Ala,ENST00000564811,;COX5A,5_prime_UTR_variant,,ENST00000568517,;COX5A,intron_variant,,ENST00000567270,;	326	173	115	SUCCESS
ZNF710	374655	.	GRCh37	15	90610374	90610374	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	34	93	0	ENST00000268154.4:c.5A>G	p.Glu2Gly	p.E2G	ENST00000268154	NM_198526.2	2	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10358.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGAGGGCT	NONE	.	.	hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF43	.	.	ENSP00000268154	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000268154	Transcript	.	.	ENSG00000140548	25352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious_low_confidence(0.02)	.	ZN710_HUMAN	ZNF710	HGNC	H0YKZ0_HUMAN	.	UPI000013D7A4	SNV	ZNF710,missense_variant,p.Glu2Gly,ENST00000268154,;ZNF710,missense_variant,p.Glu2Gly,ENST00000559419,;ZNF710,upstream_gene_variant,,ENST00000559360,;ZNF710,upstream_gene_variant,,ENST00000558883,;	256	93	72	SUCCESS
ZFHX3	463	.	GRCh37	16	72992020	72992020	+	synonymous_variant	Silent	SNP	C	C	T	rs750002479	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	35	0	ENST00000268489.5:c.2025G>A	p.Lys675=	p.K675=	ENST00000268489	NM_006885.3	675	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS10908.1	2025	RADIA|MUSE|VARSCANS	.	TTGCACTTGGG	NONE	.	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,PROSITE_patterns:PS00028,Pfam_domain:PF00096,SMART_domains:SM00355	.	.	ENSP00000268489	.	2/10	.	.	.	.	.	.	.	.	rs750002479	2/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,synonymous_variant,p.%3D,ENST00000268489,;ZFHX3,intron_variant,,ENST00000397992,;	2698	35	35	SUCCESS
PKD1L2	114780	.	GRCh37	16	81185495	81185495	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs546322359	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	65	176	0	ENST00000525539.1:c.4430A>G	p.Tyr1477Cys	p.Y1477C	ENST00000525539	NM_052892.3	1477	tAt/tGt	0	.	C:0.0008	.	C:0	.	C	.	retained_intron	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATAGACC	NONE	by1000G	.	.	C:0	.	.	C:0	17/25	.	.	.	.	.	.	.	.	rs546322359	17/25	PASS	ENST00000299598	Transcript	.	C:0.0002	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	PKD1L2	HGNC	.	.	.	SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,downstream_gene_variant,,ENST00000529079,;PKD1L2,missense_variant,p.Tyr1477Cys,ENST00000525539,;PKD1L2,missense_variant,p.Tyr792Cys,ENST00000533478,;	3827	176	81	SUCCESS
DEF8	54849	.	GRCh37	16	90023996	90023996	+	synonymous_variant	Silent	SNP	C	C	A	rs377269615	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	209	372	0	ENST00000268676.7:c.483C>A	p.Pro161=	p.P161=	ENST00000268676	NM_207514.2	161	ccC/ccA	0	G:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS10989.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGAGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12326	.	G:0	ENSP00000268676	.	5/13	.	.	.	.	.	.	.	.	rs377269615,COSM4063700,COSM4063701	5/13	PASS	ENST00000268676	Transcript	.	.	ENSG00000140995	25969	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	DEFI8_HUMAN	DEF8	HGNC	H3BT87_HUMAN,H3BRA7_HUMAN,H3BQX9_HUMAN,H3BNN0_HUMAN,H3BMP4_HUMAN	.	UPI0000359601	SNV	DEF8,synonymous_variant,p.%3D,ENST00000561959,;DEF8,synonymous_variant,p.%3D,ENST00000567884,;DEF8,synonymous_variant,p.%3D,ENST00000567874,;DEF8,synonymous_variant,p.%3D,ENST00000418391,;DEF8,synonymous_variant,p.%3D,ENST00000561741,;DEF8,synonymous_variant,p.%3D,ENST00000563594,;DEF8,synonymous_variant,p.%3D,ENST00000569061,;DEF8,synonymous_variant,p.%3D,ENST00000569453,;DEF8,synonymous_variant,p.%3D,ENST00000562986,;DEF8,synonymous_variant,p.%3D,ENST00000268676,;DEF8,synonymous_variant,p.%3D,ENST00000566820,;DEF8,synonymous_variant,p.%3D,ENST00000562578,;DEF8,synonymous_variant,p.%3D,ENST00000570182,;DEF8,synonymous_variant,p.%3D,ENST00000567999,;DEF8,synonymous_variant,p.%3D,ENST00000566079,;DEF8,synonymous_variant,p.%3D,ENST00000563795,;DEF8,downstream_gene_variant,,ENST00000564836,;DEF8,non_coding_transcript_exon_variant,,ENST00000569803,;DEF8,non_coding_transcript_exon_variant,,ENST00000567243,;DEF8,downstream_gene_variant,,ENST00000568096,;DEF8,upstream_gene_variant,,ENST00000562044,;DEF8,upstream_gene_variant,,ENST00000563848,;DEF8,3_prime_UTR_variant,,ENST00000561784,;DEF8,non_coding_transcript_exon_variant,,ENST00000568760,;DEF8,upstream_gene_variant,,ENST00000563805,;	572	372	244	SUCCESS
CDRT15	146822	.	GRCh37	17	14139241	14139241	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1473126001	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	64	241	0	ENST00000420162.2:c.499T>C	p.Trp167Arg	p.W167R	ENST00000420162	NM_001007530.1	167	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS32569.1	499	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCATGCCT	NONE	.	.	hmmpanther:PTHR16471:SF3,hmmpanther:PTHR16471	.	.	ENSP00000402355	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000420162	Transcript	.	.	ENSG00000223510	14395	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.781)	.	tolerated_low_confidence(0.35)	.	CDRTF_HUMAN	CDRT15	HGNC	.	.	UPI00000702CA	SNV	CDRT15,missense_variant,p.Trp167Arg,ENST00000420162,;CDRT15,missense_variant,p.Trp101Arg,ENST00000431716,;	515	241	274	SUCCESS
SPECC1	92521	.	GRCh37	17	20163561	20163561	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778718188	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	106	0	ENST00000261503.5:c.2894G>A	p.Arg965His	p.R965H	ENST00000261503	NM_001033553.2	965	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32590.1	2894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCGCAATG	NONE	byFrequency	.	PROSITE_profiles:PS50021,hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000261503	.	12/15	.	.	.	.	.	.	.	.	rs778718188	12/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Arg305His,ENST00000536879,;SPECC1,missense_variant,p.Arg965His,ENST00000395527,;SPECC1,missense_variant,p.Arg965His,ENST00000261503,;SPECC1,missense_variant,p.Arg470His,ENST00000581399,;SPECC1,missense_variant,p.Arg884His,ENST00000395530,;AC004702.2,intron_variant,,ENST00000580225,;	2945	107	122	SUCCESS
HNF1B	6928	.	GRCh37	17	36091619	36091619	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	157	370	0	ENST00000225893.4:c.1012C>T	p.Gln338Ter	p.Q338*	ENST00000225893	NM_001165923.1	338	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11324.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGGTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF2,Pfam_domain:PF04812	.	.	ENSP00000225893	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000225893	Transcript	.	.	ENSG00000108753	11630	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNF1B_HUMAN	HNF1B	HGNC	Q6FHW6_HUMAN	.	UPI000012CA96	SNV	HNF1B,stop_gained,p.Gln338Ter,ENST00000560016,;HNF1B,stop_gained,p.Gln338Ter,ENST00000225893,;HNF1B,stop_gained,p.Gln312Ter,ENST00000427275,;HNF1B,stop_gained,p.Gln312Ter,ENST00000561193,;HNF1B,non_coding_transcript_exon_variant,,ENST00000459669,;	1374	370	389	SUCCESS
TUBG1	7283	.	GRCh37	17	40762611	40762611	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	106	183	0	ENST00000251413.3:c.330+3C>G		p.X110_splice	ENST00000251413	NM_001070.4	110		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11433.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCGTTTC	NONE	.	.	.	.	.	ENSP00000251413	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251413	Transcript	.	.	ENSG00000131462	12417	.	.	LOW	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBG1_HUMAN	TUBG1	HGNC	.	.	UPI0000136A56	SNV	TUBG1,synonymous_variant,p.%3D,ENST00000591509,;TUBG1,splice_region_variant,,ENST00000251413,;FAM134C,5_prime_UTR_variant,,ENST00000591547,;FAM134C,5_prime_UTR_variant,,ENST00000585894,;FAM134C,5_prime_UTR_variant,,ENST00000588423,;FAM134C,upstream_gene_variant,,ENST00000309428,;FAM134C,upstream_gene_variant,,ENST00000543197,;TUBG1,splice_region_variant,,ENST00000588056,;TUBG1,splice_region_variant,,ENST00000589688,;TUBG1,non_coding_transcript_exon_variant,,ENST00000589613,;FAM134C,upstream_gene_variant,,ENST00000585726,;FAM134C,upstream_gene_variant,,ENST00000589797,;FAM134C,upstream_gene_variant,,ENST00000586796,;FAM134C,upstream_gene_variant,,ENST00000586870,;FAM134C,upstream_gene_variant,,ENST00000590541,;FAM134C,upstream_gene_variant,,ENST00000593251,;	.	183	238	SUCCESS
MPO	4353	.	GRCh37	17	56355209	56355209	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1271546630	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	34	0	ENST00000225275.3:c.1183C>T	p.Arg395Cys	p.R395C	ENST00000225275	NM_000250.1	395	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11604.1	1183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGCGCTG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000225275	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.01)	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,missense_variant,p.Arg427Cys,ENST00000340482,;MPO,missense_variant,p.Arg395Cys,ENST00000225275,;MPO,upstream_gene_variant,,ENST00000577220,;MPO,non_coding_transcript_exon_variant,,ENST00000578493,;MPO,downstream_gene_variant,,ENST00000580005,;MPO,downstream_gene_variant,,ENST00000581022,;	1360	34	36	SUCCESS
C18orf42	0	.	GRCh37	18	5145618	5145618	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	130	266	1	ENST00000434239.3:c.153C>T	p.Asn51=	p.N51=	ENST00000434239	NM_001145194.1	51	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS54179.1	153	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGGTTGTC	NONE	.	.	hmmpanther:PTHR15934:SF3,hmmpanther:PTHR15934	.	.	ENSP00000399075	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000434239	Transcript	.	.	ENSG00000231824	28285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR042_HUMAN	C18orf42	HGNC	.	.	UPI0000201977	SNV	C18orf42,synonymous_variant,p.%3D,ENST00000434239,;C18orf42,synonymous_variant,p.%3D,ENST00000580650,;	325	267	231	SUCCESS
TYK2	7297	.	GRCh37	19	10476357	10476357	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	37	79	0	ENST00000264818.6:c.847C>T	p.Leu283=	p.L283=	ENST00000264818		283	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12236.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGCAGCC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF68,PIRSF_domain:PIRSF000636	.	.	ENSP00000431885	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000525621	Transcript	1	.	ENSG00000105397	12440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYK2_HUMAN	TYK2	HGNC	E9PQM4_HUMAN,E9PQL2_HUMAN,E9PM19_HUMAN	.	UPI000013D573	SNV	TYK2,synonymous_variant,p.%3D,ENST00000525621,;TYK2,synonymous_variant,p.%3D,ENST00000529370,;TYK2,synonymous_variant,p.%3D,ENST00000264818,;TYK2,synonymous_variant,p.%3D,ENST00000524462,;TYK2,synonymous_variant,p.%3D,ENST00000525220,;TYK2,downstream_gene_variant,,ENST00000531836,;TYK2,downstream_gene_variant,,ENST00000530829,;TYK2,downstream_gene_variant,,ENST00000525824,;TYK2,upstream_gene_variant,,ENST00000533334,;TYK2,downstream_gene_variant,,ENST00000529317,;TYK2,upstream_gene_variant,,ENST00000531620,;	1329	79	79	SUCCESS
EMR3	0	.	GRCh37	19	14765979	14765979	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	129	236	0	ENST00000253673.5:c.394-2A>T		p.X132_splice	ENST00000253673	NM_032571.3	132		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12315.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTTTGAA	NONE	.	.	.	.	.	ENSP00000253673	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	HIGH	5/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,splice_acceptor_variant,,ENST00000253673,;EMR3,splice_acceptor_variant,,ENST00000344373,;EMR3,intron_variant,,ENST00000599900,;EMR3,intron_variant,,ENST00000443157,;	.	237	301	SUCCESS
NCAN	1463	.	GRCh37	19	19359573	19359573	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	55	122	0	ENST00000252575.6:c.3702C>A	p.Tyr1234Ter	p.Y1234*	ENST00000252575	NM_004386.2	1234	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS12397.1	3702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACAATGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000252575	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000252575	Transcript	.	.	ENSG00000130287	2465	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCAN_HUMAN	NCAN	HGNC	Q4LE67_HUMAN,F5H7X3_HUMAN	.	UPI000013CD70	SNV	NCAN,stop_gained,p.Tyr685Ter,ENST00000538881,;NCAN,stop_gained,p.Tyr1234Ter,ENST00000252575,;NCAN,intron_variant,,ENST00000588231,;NCAN,non_coding_transcript_exon_variant,,ENST00000585410,;	3801	122	115	SUCCESS
RHPN2	85415	.	GRCh37	19	33498926	33498926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	56	108	0	ENST00000254260.3:c.754G>T	p.Ala252Ser	p.A252S	ENST00000254260	NM_033103.4	252	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12427.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGCTCTCT	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23031:SF5,hmmpanther:PTHR23031,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041	.	.	ENSP00000254260	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000254260	Transcript	.	.	ENSG00000131941	19974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.284)	.	tolerated(0.05)	.	RHPN2_HUMAN	RHPN2	HGNC	B4DUS7_HUMAN,B3KX27_HUMAN	.	UPI00000747A3	SNV	RHPN2,missense_variant,p.Ala101Ser,ENST00000400226,;RHPN2,missense_variant,p.Ala252Ser,ENST00000254260,;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;	790	108	143	SUCCESS
CACTIN	58509	.	GRCh37	19	3626642	3626642	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	28	0	ENST00000221899.3:c.-86G>A		p.*29*	ENST00000221899		40		0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45920.1	119	RADIA|MUSE|VARSCANS	.	CCTCCCGGCGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000415078	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,missense_variant,p.Arg40Gln,ENST00000248420,;CACTIN,missense_variant,p.Arg40Gln,ENST00000429344,;CACTIN,5_prime_UTR_variant,,ENST00000221899,;PIP5K1C,downstream_gene_variant,,ENST00000335312,;CACTIN,missense_variant,p.Arg40Gln,ENST00000585942,;	172	28	28	SUCCESS
KCNN4	3783	.	GRCh37	19	44285117	44285117	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	19	0	ENST00000262888.3:c.-104C>T		p.*35*	ENST00000262888	NM_002250.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12630.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCTGGC	NONE	.	.	.	.	.	ENSP00000262888	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000262888	Transcript	.	.	ENSG00000104783	6293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNN4_HUMAN	KCNN4	HGNC	M0R2E8_HUMAN,M0QZ70_HUMAN	.	UPI0000000DF3	SNV	KCNN4,5_prime_UTR_variant,,ENST00000262888,;KCNN4,5_prime_UTR_variant,,ENST00000599720,;KCNN4,upstream_gene_variant,,ENST00000599107,;	293	19	23	SUCCESS
ZNF223	7766	.	GRCh37	19	44570978	44570978	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	49	97	0	ENST00000434772.3:c.997A>T	p.Lys333Ter	p.K333*	ENST00000434772	NM_013361.4	333	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS12635.1	997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTAAGCAT	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF29,PROSITE_profiles:PS50157	.	.	ENSP00000401947	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434772	Transcript	.	.	ENSG00000178386	13016	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN223_HUMAN	ZNF223	HGNC	K7EQ32_HUMAN	.	UPI00002025B5	SNV	ZNF223,stop_gained,p.Lys333Ter,ENST00000434772,;ZNF223,downstream_gene_variant,,ENST00000591850,;ZNF223,stop_gained,p.Lys443Ter,ENST00000591793,;ZNF223,downstream_gene_variant,,ENST00000593088,;	1252	97	128	SUCCESS
XAB2	56949	.	GRCh37	19	7691045	7691045	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	80	0	ENST00000358368.4:c.634A>G	p.Lys212Glu	p.K212E	ENST00000358368	NM_020196.2	212	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32892.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTTAGACA	NONE	.	.	hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13	.	.	ENSP00000351137	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000358368	Transcript	.	.	ENSG00000076924	14089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.26)	.	SYF1_HUMAN	XAB2	HGNC	Q68CN2_HUMAN,F5H315_HUMAN	.	UPI0000001BDE	SNV	XAB2,missense_variant,p.Lys212Glu,ENST00000358368,;XAB2,missense_variant,p.Lys209Glu,ENST00000534844,;PET100,upstream_gene_variant,,ENST00000601406,;PET100,upstream_gene_variant,,ENST00000594797,;PET100,upstream_gene_variant,,ENST00000456958,;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;PET100,upstream_gene_variant,,ENST00000600836,;CTD-3214H19.4,upstream_gene_variant,,ENST00000599243,;CTD-3214H19.4,upstream_gene_variant,,ENST00000595866,;CTD-3214H19.4,upstream_gene_variant,,ENST00000598664,;XAB2,upstream_gene_variant,,ENST00000600230,;PET100,upstream_gene_variant,,ENST00000601829,;XAB2,upstream_gene_variant,,ENST00000596134,;PET100,upstream_gene_variant,,ENST00000598540,;	672	80	88	SUCCESS
DENND4B	9909	.	GRCh37	1	153906108	153906108	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	203	225	0	ENST00000361217.4:c.3181C>T	p.Leu1061Phe	p.L1061F	ENST00000361217	NM_014856.2	1061	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS44228.1	3181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF18	.	.	ENSP00000354597	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000361217	Transcript	.	.	ENSG00000198837	29044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.05)	.	DEN4B_HUMAN	DENND4B	HGNC	.	.	UPI000047EA3E	SNV	DENND4B,missense_variant,p.Leu1072Phe,ENST00000368646,;DENND4B,missense_variant,p.Leu1061Phe,ENST00000361217,;DENND4B,upstream_gene_variant,,ENST00000474386,;DENND4B,upstream_gene_variant,,ENST00000492898,;DENND4B,upstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;DENND4B,upstream_gene_variant,,ENST00000462423,;DENND4B,upstream_gene_variant,,ENST00000480340,;	3600	225	363	SUCCESS
CCDC19	0	.	GRCh37	1	159846466	159846466	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377248471	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	873	221	783	0	ENST00000368099.4:c.1232G>A	p.Arg411Gln	p.R411Q	ENST00000368099	NM_012337.2	411	cGg/cAg	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	CCDS30914.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCGCGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15504,Pfam_domain:PF13868	.	T:0.0001	ENSP00000357079	.	10/12	.	.	.	.	.	.	.	.	rs377248471	10/12	PASS	ENST00000368099	Transcript	.	.	ENSG00000213085	17229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	CCD19_HUMAN	CCDC19	HGNC	Q05BA3_HUMAN	.	UPI000006F653	SNV	CCDC19,missense_variant,p.Arg326Gln,ENST00000426543,;CCDC19,missense_variant,p.Arg411Gln,ENST00000368099,;CCDC19,non_coding_transcript_exon_variant,,ENST00000476696,;CCDC19,non_coding_transcript_exon_variant,,ENST00000475911,;CCDC19,upstream_gene_variant,,ENST00000479861,;RP11-190A12.7,upstream_gene_variant,,ENST00000537167,;RP11-190A12.7,upstream_gene_variant,,ENST00000536779,;RP11-190A12.7,upstream_gene_variant,,ENST00000536764,;RP11-190A12.7,upstream_gene_variant,,ENST00000543372,;RP11-190A12.7,upstream_gene_variant,,ENST00000544342,;	1297	784	1095	SUCCESS
F5	2153	.	GRCh37	1	169515769	169515769	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780922091	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	18	136	1	ENST00000367797.3:c.1673A>G	p.Tyr558Cys	p.Y558C	ENST00000367797	NM_000130.4	558	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1281.1	1673	MUTECT|MUSE	.	CAAGGTACCAG	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000356771	.	11/25	.	.	.	.	.	.	.	.	rs780922091,CM014861	11/25	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	.	deleterious(0)	.	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,missense_variant,p.Tyr558Cys,ENST00000367796,;F5,missense_variant,p.Tyr558Cys,ENST00000367797,;F5,3_prime_UTR_variant,,ENST00000546081,;	1875	137	221	SUCCESS
DHX9	1660	.	GRCh37	1	182847265	182847265	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	203	22	155	0	ENST00000367549.3:c.2308C>G	p.Pro770Ala	p.P770A	ENST00000367549	NM_001357.4	770	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS41444.1	2308	RADIA|MUTECT|MUSE|VARSCANS	.	TACGGCCTGGA	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000356520	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.055)	.	tolerated(0.24)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Pro770Ala,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000474446,;DHX9,upstream_gene_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000490519,;	2418	155	225	SUCCESS
CR1L	1379	.	GRCh37	1	207890960	207890960	+	synonymous_variant	Silent	SNP	C	C	T	rs1230663963	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	421	69	313	0	ENST00000508064.2:c.1566C>T	p.Ile522=	p.I522=	ENST00000508064	NM_175710.1	522	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS44310.1	1566	RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCCGCCG	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923	.	.	ENSP00000421736	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000508064	Transcript	.	.	ENSG00000197721	2335	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CR1L_HUMAN	CR1L	HGNC	.	.	UPI0000DD792A	SNV	CR1L,synonymous_variant,p.%3D,ENST00000508064,;CR1L,3_prime_UTR_variant,,ENST00000294997,;	1626	313	491	SUCCESS
PLCH2	9651	.	GRCh37	1	2433634	2433634	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	17	0	ENST00000378486.3:c.2745C>T	p.Pro915=	p.P915=	ENST00000378486	NM_014638.2	915	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	.	2664	RADIA|MUSE	.	CGGCCCCCGGC	NONE	.	.	hmmpanther:PTHR10336:SF21,hmmpanther:PTHR10336	.	.	ENSP00000397289	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000449969	Transcript	.	.	ENSG00000149527	29037	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCH2_HUMAN	PLCH2	HGNC	.	.	UPI00006C0134	SNV	PLCH2,synonymous_variant,p.%3D,ENST00000278878,;PLCH2,synonymous_variant,p.%3D,ENST00000419816,;PLCH2,synonymous_variant,p.%3D,ENST00000288766,;PLCH2,synonymous_variant,p.%3D,ENST00000378486,;PLCH2,synonymous_variant,p.%3D,ENST00000449969,;PLCH2,synonymous_variant,p.%3D,ENST00000378488,;PLCH2,non_coding_transcript_exon_variant,,ENST00000462379,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,non_coding_transcript_exon_variant,,ENST00000473964,;	2825	17	14	SUCCESS
OR2T3	343173	.	GRCh37	1	248637025	248637025	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	354	165	374	0	ENST00000359594.2:c.374A>G	p.Tyr125Cys	p.Y125C	ENST00000359594	NM_001005495.1	125	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31117.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTATGACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000352604	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359594	Transcript	.	.	ENSG00000196539	14727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	OR2T3_HUMAN	OR2T3	HGNC	.	.	UPI00001D7CA5	SNV	OR2T3,missense_variant,p.Tyr125Cys,ENST00000359594,;	399	374	520	SUCCESS
ARID1A	8289	.	GRCh37	1	27106505	27106506	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	155	111	213	0	ENST00000324856.7:c.6116_6117insT	p.Gln2039HisfsTer60	p.Q2039Hfs*60	ENST00000324856	NM_006015.4	2039	caa/caTa	0	.	.	.	.	.	T	Q/HX	protein_coding	YES	CCDS285.1	6116-6117	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACCAAGGGG	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	insertion	ARID1A,frameshift_variant,p.Gln1822HisfsTer60,ENST00000457599,;ARID1A,frameshift_variant,p.Gln1656HisfsTer60,ENST00000374152,;ARID1A,frameshift_variant,p.Gln936HisfsTer60,ENST00000430799,;ARID1A,frameshift_variant,p.Gln367HisfsTer60,ENST00000540690,;ARID1A,frameshift_variant,p.Gln2039HisfsTer60,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6487-6488	213	266	SUCCESS
ELTD1	0	.	GRCh37	1	79404924	79404924	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs774842079	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	186	402	1	ENST00000370742.3:c.345C>A	p.Cys115Ter	p.C115*	ENST00000370742	NM_022159.3	115	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS41352.1	345	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	AAATGGCAGTT	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Gene3D:2.40.155.10	.	.	ENSP00000359778	.	4/15	.	.	.	.	.	.	.	.	rs774842079	4/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,stop_gained,p.Cys115Ter,ENST00000370742,;	409	403	234	SUCCESS
SCP2D1	140856	.	GRCh37	20	18794517	18794517	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	83	138	0	ENST00000377428.2:c.58G>T	p.Gly20Cys	p.G20C	ENST00000377428	NM_178483.2	20	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS13139.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGGCCAG	NONE	.	.	hmmpanther:PTHR24314:SF7,hmmpanther:PTHR24314	.	.	ENSP00000366645	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377428	Transcript	.	.	ENSG00000132631	16211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.11)	.	SCP2D_HUMAN	SCP2D1	HGNC	.	.	UPI00001285ED	SNV	SCP2D1,missense_variant,p.Gly20Cys,ENST00000377428,;C20orf78,intron_variant,,ENST00000278779,;C20orf78,upstream_gene_variant,,ENST00000463425,;	148	138	177	SUCCESS
DEFB119	245932	.	GRCh37	20	29976802	29976802	+	intron_variant	Intron	SNP	C	C	T	rs372022906	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	77	156	0	ENST00000376321.3:c.61+1424G>A		p.*21*	ENST00000376321	NM_153289.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS33455.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCTAAGC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000365492	.	2/2	.	.	.	.	.	.	.	.	rs372022906	2/2	PASS	ENST00000376315	Transcript	.	.	ENSG00000180483	18099	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DB119_HUMAN	DEFB119	HGNC	Q5GRG0_HUMAN	.	UPI0000128D95	SNV	DEFB119,3_prime_UTR_variant,,ENST00000376315,;DEFB119,intron_variant,,ENST00000376321,;DEFB119,intron_variant,,ENST00000339144,;DEFB119,intron_variant,,ENST00000492344,;	293	156	190	SUCCESS
CEP250	11190	.	GRCh37	20	34067549	34067549	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	153	0	ENST00000397527.1:c.2367G>T	p.Gln789His	p.Q789H	ENST00000397527	NM_007186.3	789	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS13255.1	2367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGCTGGA	NONE	.	.	hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	.	ENSP00000380661	.	19/35	.	.	.	.	.	.	.	.	.	19/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Gln789His,ENST00000342580,;CEP250,missense_variant,p.Gln789His,ENST00000397527,;CEP250,downstream_gene_variant,,ENST00000425934,;CEP250,downstream_gene_variant,,ENST00000425096,;RP3-477O4.14,intron_variant,,ENST00000416260,;RP3-477O4.14,intron_variant,,ENST00000444933,;RP3-477O4.14,intron_variant,,ENST00000453914,;CEP250,downstream_gene_variant,,ENST00000461386,;	3087	153	116	SUCCESS
SLC2A4RG	56731	.	GRCh37	20	62373570	62373570	+	synonymous_variant	Silent	SNP	C	C	T	rs779690496	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	57	110	0	ENST00000266077.2:c.667C>T	p.Leu223=	p.L223=	ENST00000266077	NM_020062.3	223	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13537.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCCTGGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR13006,hmmpanther:PTHR13006:SF5,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000266077	.	5/8	.	.	.	.	.	.	.	.	rs779690496	5/8	PASS	ENST00000266077	Transcript	.	.	ENSG00000125520	15930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2A4R_HUMAN	SLC2A4RG	HGNC	Q2PHL5_HUMAN	.	UPI000013D6CE	SNV	SLC2A4RG,synonymous_variant,p.%3D,ENST00000266077,;ZBTB46,downstream_gene_variant,,ENST00000395104,;RP4-583P15.14,downstream_gene_variant,,ENST00000467211,;LIME1,downstream_gene_variant,,ENST00000493265,;ZBTB46,downstream_gene_variant,,ENST00000245663,;LIME1,downstream_gene_variant,,ENST00000309546,;ZBTB46,downstream_gene_variant,,ENST00000302995,;LIME1,downstream_gene_variant,,ENST00000444951,;RP4-583P15.10,upstream_gene_variant,,ENST00000433905,;RP4-583P15.10,upstream_gene_variant,,ENST00000447343,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000473157,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000482718,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000485897,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000491109,;SLC2A4RG,non_coding_transcript_exon_variant,,ENST00000493772,;LIME1,downstream_gene_variant,,ENST00000490824,;LIME1,downstream_gene_variant,,ENST00000476183,;LIME1,downstream_gene_variant,,ENST00000496820,;LIME1,downstream_gene_variant,,ENST00000465591,;RP4-583P15.14,downstream_gene_variant,,ENST00000476221,;SLC2A4RG,upstream_gene_variant,,ENST00000496425,;LIME1,downstream_gene_variant,,ENST00000487026,;SLC2A4RG,downstream_gene_variant,,ENST00000474248,;LIME1,downstream_gene_variant,,ENST00000489212,;LIME1,downstream_gene_variant,,ENST00000480139,;LIME1,downstream_gene_variant,,ENST00000494776,;RP4-583P15.15,downstream_gene_variant,,ENST00000490623,;	719	110	123	SUCCESS
ADAMTS5	11096	.	GRCh37	21	28296553	28296553	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	44	92	0	ENST00000284987.5:c.2612G>T	p.Gly871Val	p.G871V	ENST00000284987	NM_007038.3	871	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS13579.1	2612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATCCCACT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37	.	.	ENSP00000284987	.	8/8	.	.	.	.	.	.	.	.	COSM3550016	8/8	PASS	ENST00000284987	Transcript	.	.	ENSG00000154736	221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.28)	1	ATS5_HUMAN	ADAMTS5	HGNC	.	.	UPI00001AEAC2	SNV	ADAMTS5,missense_variant,p.Gly871Val,ENST00000284987,;AP001601.2,intron_variant,,ENST00000426771,;	2734	93	124	SUCCESS
TSPEAR	54084	.	GRCh37	21	45953608	45953608	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370848096	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	67	111	0	ENST00000323084.4:c.502G>A	p.Val168Ile	p.V168I	ENST00000323084	NM_001272037.1	168	Gtc/Atc	0	.	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS13712.1	502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGCCTG	BUFFER|p.A166T|c.496G>A|3	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49899,SMART_domains:SM00210,hmmpanther:PTHR15261	T:0	.	ENSP00000321987	T:0	3/12	.	.	.	.	.	.	.	.	rs370848096	3/12	PASS	ENST00000323084	Transcript	.	T:0.0004	ENSG00000175894	1268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0.002	tolerated(0.36)	.	TSEAR_HUMAN	TSPEAR	HGNC	.	.	UPI0000137746	SNV	TSPEAR,missense_variant,p.Val100Ile,ENST00000397916,;TSPEAR,missense_variant,p.Val168Ile,ENST00000323084,;	568	111	174	SUCCESS
CCT8L2	150160	.	GRCh37	22	17072001	17072001	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	106	258	0	ENST00000359963.3:c.1440G>T	p.Val480=	p.V480=	ENST00000359963	NM_014406.4	480	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13738.1	1440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCACACC	NONE	.	.	Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353	.	.	ENSP00000353048	.	1/1	.	.	.	.	.	.	.	.	COSM3673209,COSM1307920	1/1	PASS	ENST00000359963	Transcript	.	.	ENSG00000198445	15553	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	TCPQM_HUMAN	CCT8L2	HGNC	.	.	UPI000006CF87	SNV	CCT8L2,synonymous_variant,p.%3D,ENST00000359963,;FABP5P11,downstream_gene_variant,,ENST00000430910,;	1700	258	149	SUCCESS
PI4KA	5297	.	GRCh37	22	21167781	21167781	+	synonymous_variant	Silent	SNP	G	G	A	rs146943439	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	117	0	ENST00000255882.6:c.870C>T	p.Pro290=	p.P290=	ENST00000255882	NM_058004.3	290	ccC/ccT	0	A:0.0102	A:0.0113	.	A:0.0014	.	A	P	protein_coding	YES	CCDS33603.2	870	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGGGCAA	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0002	ENSP00000255882	A:0	8/55	.	.	.	.	.	.	.	.	rs749678707,rs146943439	8/55	common_in_exac	ENST00000255882	Transcript	.	A:0.0032	ENSG00000241973	8983	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,synonymous_variant,p.%3D,ENST00000572273,;PI4KA,synonymous_variant,p.%3D,ENST00000255882,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485963,;	957	118	91	SUCCESS
SNAP29	9342	.	GRCh37	22	21235375	21235375	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	99	191	0	ENST00000215730.7:c.473C>T	p.Ala158Val	p.A158V	ENST00000215730	NM_004782.3	158	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13784.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGCAAAGT	NONE	.	.	hmmpanther:PTHR19305:SF0,hmmpanther:PTHR19305,Pfam_domain:PF00835	.	.	ENSP00000215730	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000215730	Transcript	.	.	ENSG00000099940	11133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.175)	.	tolerated(0.13)	.	SNP29_HUMAN	SNAP29	HGNC	C9JAF7_HUMAN	.	UPI0000135B00	SNV	SNAP29,missense_variant,p.Ala65Val,ENST00000439214,;SNAP29,missense_variant,p.Ala158Val,ENST00000215730,;	601	191	139	SUCCESS
SEZ6L	23544	.	GRCh37	22	26690288	26690288	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	146	0	ENST00000248933.6:c.866A>C	p.Glu289Ala	p.E289A	ENST00000248933		289	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS13833.1	866	MUTECT|MUSE	.	TCCTGAGGGGT	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS01180	.	.	ENSP00000248933	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Glu289Ala,ENST00000529632,;SEZ6L,missense_variant,p.Glu289Ala,ENST00000248933,;SEZ6L,missense_variant,p.Glu289Ala,ENST00000360929,;SEZ6L,missense_variant,p.Glu289Ala,ENST00000343706,;SEZ6L,missense_variant,p.Glu62Ala,ENST00000402979,;SEZ6L,missense_variant,p.Glu62Ala,ENST00000403121,;SEZ6L,missense_variant,p.Glu289Ala,ENST00000404234,;	961	147	94	SUCCESS
PHF21B	112885	.	GRCh37	22	45291935	45291935	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	60	121	0	ENST00000313237.5:c.860T>C	p.Leu287Pro	p.L287P	ENST00000313237	NM_138415.4	287	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS14061.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCAGGCCT	NONE	.	.	hmmpanther:PTHR24102:SF1,hmmpanther:PTHR24102	.	.	ENSP00000324403	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000313237	Transcript	.	.	ENSG00000056487	25161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PF21B_HUMAN	PHF21B	HGNC	B3KTL5_HUMAN	.	UPI0000072111	SNV	PHF21B,missense_variant,p.Leu233Pro,ENST00000447824,;PHF21B,missense_variant,p.Leu245Pro,ENST00000396103,;PHF21B,missense_variant,p.Leu287Pro,ENST00000313237,;PHF21B,missense_variant,p.Leu83Pro,ENST00000414269,;PHF21B,missense_variant,p.Leu233Pro,ENST00000404079,;PHF21B,missense_variant,p.Leu83Pro,ENST00000403565,;	1011	121	87	SUCCESS
FBLN1	2192	.	GRCh37	22	45943008	45943008	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	30	71	0	ENST00000327858.6:c.1365C>T	p.Ala455=	p.A455=	ENST00000327858	NM_006486.2	455	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14067.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCAACGT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000331544	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,synonymous_variant,p.%3D,ENST00000402984,;FBLN1,synonymous_variant,p.%3D,ENST00000262722,;FBLN1,synonymous_variant,p.%3D,ENST00000340923,;FBLN1,synonymous_variant,p.%3D,ENST00000348697,;FBLN1,synonymous_variant,p.%3D,ENST00000327858,;FBLN1,synonymous_variant,p.%3D,ENST00000442170,;FBLN1,non_coding_transcript_exon_variant,,ENST00000476366,;FBLN1,downstream_gene_variant,,ENST00000437711,;	1460	71	40	SUCCESS
RGPD4	285190	.	GRCh37	2	108487607	108487607	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	124	0	ENST00000408999.3:c.3147A>G	p.Glu1049=	p.E1049=	ENST00000408999	NM_182588.2	1049	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS46381.1	3147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAACTTGT	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	3224	124	112	SUCCESS
ERCC3	2071	.	GRCh37	2	128051105	128051105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	51	153	0	ENST00000285398.2:c.218C>T	p.Ser73Phe	p.S73F	ENST00000285398	NM_000122.1	73	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS2144.1	218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGAGGTG	NONE	.	.	hmmpanther:PTHR11274:SF0,hmmpanther:PTHR11274,TIGRFAM_domain:TIGR00603	.	.	ENSP00000285398	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000285398	Transcript	.	.	ENSG00000163161	3435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.02)	.	ERCC3_HUMAN	ERCC3	HGNC	G3V1S1_HUMAN	.	UPI000013900E	SNV	ERCC3,missense_variant,p.Ser9Phe,ENST00000493187,;ERCC3,missense_variant,p.Ser73Phe,ENST00000285398,;ERCC3,upstream_gene_variant,,ENST00000456257,;ERCC3,3_prime_UTR_variant,,ENST00000445889,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;ERCC3,non_coding_transcript_exon_variant,,ENST00000490062,;ERCC3,non_coding_transcript_exon_variant,,ENST00000494464,;ERCC3,non_coding_transcript_exon_variant,,ENST00000462306,;ERCC3,upstream_gene_variant,,ENST00000460485,;	313	153	163	SUCCESS
TPO	7173	.	GRCh37	2	1440156	1440156	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs1213524627	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	55	109	0	ENST00000329066.4:c.482G>T	p.Arg161Ile	p.R161I	ENST00000329066	NM_001206744.1	161	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS1643.1	482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGGTATT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Arg161Ile,ENST00000329066,;TPO,missense_variant,p.Arg161Ile,ENST00000539820,;TPO,missense_variant,p.Arg161Ile,ENST00000337415,;TPO,missense_variant,p.Arg161Ile,ENST00000382198,;TPO,missense_variant,p.Arg161Ile,ENST00000382201,;TPO,missense_variant,p.Arg161Ile,ENST00000382269,;TPO,missense_variant,p.Arg161Ile,ENST00000423320,;TPO,missense_variant,p.Arg161Ile,ENST00000349624,;TPO,missense_variant,p.Arg161Ile,ENST00000346956,;TPO,missense_variant,p.Arg90Ile,ENST00000422464,;TPO,missense_variant,p.Arg161Ile,ENST00000345913,;TPO,intron_variant,,ENST00000497517,;	573	109	97	SUCCESS
LANCL1	10314	.	GRCh37	2	211341073	211341073	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	146	339	0	ENST00000233714.4:c.48C>G	p.Ser16=	p.S16=	ENST00000233714		16	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2392.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGGATTT	NONE	.	.	hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF5	.	.	ENSP00000388713	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000443314	Transcript	.	.	ENSG00000115365	6508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LANC1_HUMAN	LANCL1	HGNC	Q53TN2_HUMAN,E9PHS0_HUMAN	.	UPI0000073D7C	SNV	LANCL1,synonymous_variant,p.%3D,ENST00000450366,;LANCL1,synonymous_variant,p.%3D,ENST00000448951,;LANCL1,synonymous_variant,p.%3D,ENST00000431941,;LANCL1,synonymous_variant,p.%3D,ENST00000443314,;LANCL1,synonymous_variant,p.%3D,ENST00000441020,;LANCL1,synonymous_variant,p.%3D,ENST00000233714,;CPS1,upstream_gene_variant,,ENST00000417946,;CPS1,upstream_gene_variant,,ENST00000518043,;CPS1,upstream_gene_variant,,ENST00000523702,;CPS1,upstream_gene_variant,,ENST00000430249,;LANCL1,synonymous_variant,p.%3D,ENST00000453956,;	391	339	293	SUCCESS
NPPC	4880	.	GRCh37	2	232790144	232790144	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	85	0	ENST00000295440.2:c.372G>A	p.Leu124=	p.L124=	ENST00000295440		124	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2489.1	372	RADIA|MUTECT|MUSE|VARSCANS	.	CATCCCAGGCC	NONE	.	.	Prints_domain:PR00713,Prints_domain:PR00710,SMART_domains:SM00183,Pfam_domain:PF00212,PROSITE_patterns:PS00263,hmmpanther:PTHR12167:SF2,hmmpanther:PTHR12167	.	.	ENSP00000387159	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000409852	Transcript	.	.	ENSG00000163273	7941	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANFC_HUMAN	NPPC	HGNC	E5LCN7_HUMAN	.	UPI0000033C91	SNV	NPPC,synonymous_variant,p.%3D,ENST00000295440,;NPPC,synonymous_variant,p.%3D,ENST00000409852,;	526	85	102	SUCCESS
PRR23A	729627	.	GRCh37	3	138725110	138725110	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs1335482305	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	14	0	ENST00000383163.2:c.1A>G	p.Met1?	p.M1?	ENST00000383163	NM_001134659.1	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS46923.1	1	RADIA|MUTECT|MUSE	.	GCCCATAGCCT	NONE	.	.	hmmpanther:PTHR31813:SF2,hmmpanther:PTHR31813,Pfam_domain:PF10630	.	.	ENSP00000372649	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383163	Transcript	.	.	ENSG00000206260	37172	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious(0.04)	.	PR23A_HUMAN	PRR23A	HGNC	.	.	UPI00003671C1	SNV	PRR23A,start_lost,p.Met1?,ENST00000383163,;MRPS22,intron_variant,,ENST00000495075,;	1	14	11	SUCCESS
MUC4	4585	.	GRCh37	3	195517320	195517320	+	synonymous_variant	Silent	SNP	G	G	C	rs1001914501	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	109	380	0	ENST00000463781.3:c.1131C>G	p.Thr377=	p.T377=	ENST00000463781	NM_018406.6	377	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS54700.1	1131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGGTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	1591	380	362	SUCCESS
PDCD6IP	10015	.	GRCh37	3	33870347	33870347	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	887	44	981	1	ENST00000307296.3:c.720G>T	p.Glu240Asp	p.E240D	ENST00000307296		240	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54561.1	735	MUTECT|MUSE	.	CAGGAGGTGTT	NONE	.	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23030:SF19,hmmpanther:PTHR23030,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041	.	.	ENSP00000411825	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000457054	Transcript	.	.	ENSG00000170248	8766	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.36)	.	PDC6I_HUMAN	PDCD6IP	HGNC	.	.	UPI00004121D3	SNV	PDCD6IP,missense_variant,p.Glu240Asp,ENST00000307296,;PDCD6IP,missense_variant,p.Glu245Asp,ENST00000457054,;PDCD6IP,downstream_gene_variant,,ENST00000413073,;PDCD6IP,splice_region_variant,,ENST00000482561,;PDCD6IP,downstream_gene_variant,,ENST00000477798,;PDCD6IP,downstream_gene_variant,,ENST00000484478,;PDCD6IP,missense_variant,p.Glu50Asp,ENST00000412887,;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000487821,;PDCD6IP,downstream_gene_variant,,ENST00000435909,;PDCD6IP,downstream_gene_variant,,ENST00000459659,;PDCD6IP,downstream_gene_variant,,ENST00000494810,;	890	982	931	SUCCESS
FAM208A	0	.	GRCh37	3	56658883	56658883	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753621253	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	156	338	0	ENST00000493960.2:c.4291C>G	p.Gln1431Glu	p.Q1431E	ENST00000493960	NM_001112736.1	1431	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS46853.1	4291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGTATGT	NONE	byFrequency	.	hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	22/24	.	.	.	.	.	.	.	.	rs753621253,COSM3993250,COSM3993251	22/24	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.839)	.	deleterious(0)	0,1,1	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Gln1370Glu,ENST00000355628,;FAM208A,missense_variant,p.Gln1431Glu,ENST00000493960,;FAM208A,missense_variant,p.Gln994Glu,ENST00000431842,;CCDC66,downstream_gene_variant,,ENST00000394672,;CCDC66,downstream_gene_variant,,ENST00000326595,;CCDC66,downstream_gene_variant,,ENST00000436465,;FAM208A,intron_variant,,ENST00000485156,;FAM208A,non_coding_transcript_exon_variant,,ENST00000487036,;FAM208A,non_coding_transcript_exon_variant,,ENST00000459993,;CCDC66,downstream_gene_variant,,ENST00000471681,;CCDC66,downstream_gene_variant,,ENST00000480884,;CCDC66,downstream_gene_variant,,ENST00000476142,;FAM208A,downstream_gene_variant,,ENST00000461863,;CCDC66,downstream_gene_variant,,ENST00000341455,;	4302	338	300	SUCCESS
CADM2	253559	.	GRCh37	3	85932566	85932567	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	106	31	129	0	ENST00000407528.2:c.337_338delinsT	p.Thr113PhefsTer29	p.T113Ffs*29	ENST00000407528	NM_001167674.1	113	ACt/Tt	0	.	.	.	.	.	T	T/X	protein_coding	YES	CCDS33792.1	343-344	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GTCAAAACTTCCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	substitution	CADM2,frameshift_variant,p.Thr113PhefsTer29,ENST00000407528,;CADM2,frameshift_variant,p.Thr122PhefsTer29,ENST00000383699,;CADM2,frameshift_variant,p.Thr115PhefsTer29,ENST00000405615,;	343-344	129	137	SUCCESS
KIAA0922	0	.	GRCh37	4	154524546	154524546	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1055093698	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	137	221	0	ENST00000409959.3:c.2731A>G	p.Ser911Gly	p.S911G	ENST00000409959	NM_001131007.1	911	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS47148.1	2731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTAGCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF2	.	.	ENSP00000386787	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000409959	Transcript	.	.	ENSG00000121210	29146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.14)	.	T131L_HUMAN	KIAA0922	HGNC	D3DP10_HUMAN	.	UPI00017BE9AB	SNV	KIAA0922,missense_variant,p.Ser910Gly,ENST00000409663,;KIAA0922,missense_variant,p.Ser827Gly,ENST00000440693,;KIAA0922,missense_variant,p.Ser911Gly,ENST00000409959,;KIAA0922,missense_variant,p.Ser688Gly,ENST00000240487,;KIAA0922,non_coding_transcript_exon_variant,,ENST00000497247,;	2780	221	161	SUCCESS
RBM47	54502	.	GRCh37	4	40434757	40434757	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	108	219	0	ENST00000295971.7:c.1453G>C	p.Asp485His	p.D485H	ENST00000295971	NM_001098634.1	485	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS43223.1	1453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCTGGCT	NONE	.	.	hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,TIGRFAM_domain:TIGR01648	.	.	ENSP00000371212	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000381793	Transcript	.	.	ENSG00000163694	30358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.606)	.	deleterious_low_confidence(0.03)	.	RBM47_HUMAN	RBM47	HGNC	D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN	.	UPI000020BBEC	SNV	RBM47,missense_variant,p.Asp447His,ENST00000514014,;RBM47,missense_variant,p.Asp416His,ENST00000381795,;RBM47,missense_variant,p.Asp485His,ENST00000381793,;RBM47,missense_variant,p.Asp416His,ENST00000319592,;RBM47,missense_variant,p.Asp485His,ENST00000295971,;RBM47,non_coding_transcript_exon_variant,,ENST00000515809,;RBM47,3_prime_UTR_variant,,ENST00000510871,;	1850	220	140	SUCCESS
DCUN1D4	23142	.	GRCh37	4	52740446	52740446	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs142966675	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	37	0	ENST00000334635.5:c.146G>T	p.Arg49Leu	p.R49L	ENST00000334635	NM_001040402.1	49	cGg/cTg	0	T:0.0002	T:0.0008	.	T:0	.	T	R/L	protein_coding	YES	CCDS33982.1	146	RADIA|MUSE|VARSCANS	.	TCTGCGGTCTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12281,hmmpanther:PTHR12281:SF8	T:0	T:0	ENSP00000334625	T:0	4/11	.	.	.	.	.	.	.	.	rs142966675,COSM70412	4/11	oxog	ENST00000334635	Transcript	.	T:0.0002	ENSG00000109184	28998	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.066)	T:0	tolerated_low_confidence(0.14)	0,1	DCNL4_HUMAN	DCUN1D4	HGNC	B4DH26_HUMAN	.	UPI00001C1E10	SNV	DCUN1D4,missense_variant,p.Arg93Leu,ENST00000505403,;DCUN1D4,missense_variant,p.Arg49Leu,ENST00000381441,;DCUN1D4,missense_variant,p.Arg49Leu,ENST00000334635,;DCUN1D4,missense_variant,p.Arg93Leu,ENST00000451288,;DCUN1D4,5_prime_UTR_variant,,ENST00000381437,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504113,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504661,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000513800,;DCUN1D4,missense_variant,p.Arg93Leu,ENST00000509068,;DCUN1D4,missense_variant,p.Gly36Cys,ENST00000502930,;DCUN1D4,missense_variant,p.Arg49Leu,ENST00000477560,;DCUN1D4,missense_variant,p.Gly36Cys,ENST00000509376,;DCUN1D4,3_prime_UTR_variant,,ENST00000507741,;DCUN1D4,3_prime_UTR_variant,,ENST00000506673,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000511675,;DCUN1D4,upstream_gene_variant,,ENST00000504923,;	326	37	29	SUCCESS
CCSER1	401145	.	GRCh37	4	91230222	91230222	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	42	0	ENST00000509176.1:c.787T>C	p.Leu263=	p.L263=	ENST00000509176	NM_001145065.1	263	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47099.1	787	RADIA|MUSE|VARSCANS	.	TAGCCTTGACT	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,synonymous_variant,p.%3D,ENST00000509176,;CCSER1,synonymous_variant,p.%3D,ENST00000333691,;CCSER1,synonymous_variant,p.%3D,ENST00000432775,;CCSER1,synonymous_variant,p.%3D,ENST00000505073,;CCSER1,upstream_gene_variant,,ENST00000514352,;CCSER1,upstream_gene_variant,,ENST00000508086,;CCSER1,upstream_gene_variant,,ENST00000508550,;	1075	42	31	SUCCESS
PAM	5066	.	GRCh37	5	102237061	102237061	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	130	342	1	ENST00000438793.3:c.212C>A	p.Ser71Tyr	p.S71Y	ENST00000438793	NM_001177306.1	71	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS43348.1	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGTCCGATA	NONE	.	.	hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13,Gene3D:1yi9A01,Pfam_domain:PF01082,Superfamily_domains:SSF49742	.	.	ENSP00000306100	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000304400	Transcript	.	.	ENSG00000145730	8596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	AMD_HUMAN	PAM	HGNC	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN	.	UPI000015618B	SNV	PAM,missense_variant,p.Ser71Tyr,ENST00000348126,;PAM,missense_variant,p.Ser71Tyr,ENST00000304400,;PAM,missense_variant,p.Ser71Tyr,ENST00000346918,;PAM,missense_variant,p.Ser71Tyr,ENST00000438793,;PAM,missense_variant,p.Ser71Tyr,ENST00000455264,;PAM,splice_region_variant,,ENST00000379787,;PAM,intron_variant,,ENST00000274392,;PAM,splice_region_variant,,ENST00000502472,;PAM,splice_region_variant,,ENST00000509636,;PAM,splice_region_variant,,ENST00000506260,;PAM,intron_variant,,ENST00000345721,;	398	343	361	SUCCESS
FBN2	2201	.	GRCh37	5	127704892	127704892	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	37	0	ENST00000262464.4:c.2231G>A	p.Cys744Tyr	p.C744Y	ENST00000262464	NM_001999.3	744	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS34222.1	2231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCATGGC	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	22/71	.	.	.	.	.	.	.	.	.	22/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Cys744Tyr,ENST00000262464,;FBN2,missense_variant,p.Cys744Tyr,ENST00000508053,;FBN2,missense_variant,p.Cys711Tyr,ENST00000508989,;Y_RNA,downstream_gene_variant,,ENST00000384560,;FBN2,non_coding_transcript_exon_variant,,ENST00000511489,;	3206	37	36	SUCCESS
PCDHB11	56125	.	GRCh37	5	140579924	140579924	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	116	177	0	ENST00000354757.3:c.577G>T	p.Glu193Ter	p.E193*	ENST00000354757	NM_018931.2	193	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4253.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGAGTTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF91,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000346802	.	1/1	.	.	.	.	.	.	.	.	COSM163319	1/1	PASS	ENST00000354757	Transcript	.	.	ENSG00000197479	8682	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PCDBB_HUMAN	PCDHB11	HGNC	B4DSF7_HUMAN	.	UPI00001273E6	SNV	PCDHB11,stop_gained,p.Glu193Ter,ENST00000354757,;PCDHB11,intron_variant,,ENST00000536699,;PCDHB10,downstream_gene_variant,,ENST00000239446,;	577	177	244	SUCCESS
PCDHB15	56121	.	GRCh37	5	140626597	140626597	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs532029427	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	109	196	0	ENST00000231173.3:c.1451C>G	p.Ala484Gly	p.A484G	ENST00000231173	NM_018935.2	484	gCc/gGc	0	.	T:0.0008	.	T:0	.	G	A/G	protein_coding	YES	CCDS4257.1	1451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACGCCCAGG	NONE	by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF97,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	T:0	.	ENSP00000231173	T:0	1/1	.	.	.	.	.	.	.	.	rs532029427	1/1	PASS	ENST00000231173	Transcript	.	T:0.0002	ENSG00000113248	8686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.29)	T:0	deleterious_low_confidence(0)	.	PCDBF_HUMAN	PCDHB15	HGNC	.	.	UPI00001273E8	SNV	PCDHB15,missense_variant,p.Ala484Gly,ENST00000231173,;PCDHB19P,downstream_gene_variant,,ENST00000570871,;	1451	196	241	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140735864	140735864	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	88	0	ENST00000571252.1:c.1097T>C	p.Ile366Thr	p.I366T	ENST00000571252	NM_018917.2	366	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS58979.1	1097	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAATTGCAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious_low_confidence(0)	.	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	SNV	PCDHGA4,missense_variant,p.Ile366Thr,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	1097	88	103	SUCCESS
RICTOR	253260	.	GRCh37	5	38950476	38950476	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	177	288	0	ENST00000357387.3:c.3474A>T	p.Gln1158His	p.Q1158H	ENST00000357387	NM_152756.3	1158	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS34148.1	3474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAATTGTAA	NONE	.	.	Pfam_domain:PF14665,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	.	.	ENSP00000349959	.	31/38	.	.	.	.	.	.	.	.	.	31/38	PASS	ENST00000357387	Transcript	.	.	ENSG00000164327	28611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	tolerated(0.08)	.	RICTR_HUMAN	RICTOR	HGNC	.	.	UPI00003529F3	SNV	RICTOR,missense_variant,p.Gln1158His,ENST00000357387,;RICTOR,missense_variant,p.Gln1158His,ENST00000296782,;RICTOR,downstream_gene_variant,,ENST00000503698,;RICTOR,3_prime_UTR_variant,,ENST00000511516,;OSMR,downstream_gene_variant,,ENST00000509237,;	3505	288	410	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60628300	60628300	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	17	0	ENST00000252744.5:c.201G>T	p.Pro67=	p.P67=	ENST00000252744	NM_020928.1	67	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47215.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,synonymous_variant,p.%3D,ENST00000252744,;	201	17	23	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60628301	60628301	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	17	0	ENST00000252744.5:c.202C>T	p.Pro68Ser	p.P68S	ENST00000252744	NM_020928.1	68	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47215.1	202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGCCGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.87)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Pro68Ser,ENST00000252744,;	202	17	25	SUCCESS
JARID2	3720	.	GRCh37	6	15497298	15497298	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	62	133	0	ENST00000341776.2:c.1842C>T	p.Ile614=	p.I614=	ENST00000341776	NM_004973.3	614	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4533.1	1842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCACAA	NONE	.	.	hmmpanther:PTHR10694,Gene3D:1.10.150.60,Superfamily_domains:SSF46774	.	.	ENSP00000341280	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,synonymous_variant,p.%3D,ENST00000397311,;JARID2,synonymous_variant,p.%3D,ENST00000541660,;JARID2,synonymous_variant,p.%3D,ENST00000341776,;JARID2,upstream_gene_variant,,ENST00000474854,;	2086	133	139	SUCCESS
TFAP2D	83741	.	GRCh37	6	50740456	50740456	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs905669915	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	41	76	0	ENST00000008391.3:c.1238C>T	p.Thr413Ile	p.T413I	ENST00000008391	NM_172238.3	413	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS4933.1	1238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACACTACTC	NONE	.	.	Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5	.	.	ENSP00000008391	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.351)	.	tolerated(0.21)	.	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,missense_variant,p.Thr413Ile,ENST00000008391,;	1466	76	115	SUCCESS
MDN1	23195	.	GRCh37	6	90368429	90368429	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	133	287	0	ENST00000369393.3:c.14921A>C	p.Glu4974Ala	p.E4974A	ENST00000369393		4974	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS5024.1	14921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTTCTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	89/102	.	.	.	.	.	.	.	.	.	89/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Glu4974Ala,ENST00000369393,;MDN1,missense_variant,p.Glu4974Ala,ENST00000428876,;	15037	287	286	SUCCESS
LRRC17	10234	.	GRCh37	7	102584705	102584705	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1585068833	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	105	0	ENST00000339431.4:c.977A>G	p.Asn326Ser	p.N326S	ENST00000339431	NM_001031692.2	326	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34721.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAACAGTC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF22,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000344242	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339431	Transcript	.	.	ENSG00000128606	16895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRC17_HUMAN	LRRC17	HGNC	C9JT74_HUMAN	.	UPI00000719CD	SNV	LRRC17,missense_variant,p.Asn326Ser,ENST00000339431,;LRRC17,3_prime_UTR_variant,,ENST00000249377,;FBXL13,intron_variant,,ENST00000379306,;FBXL13,intron_variant,,ENST00000393772,;FBXL13,intron_variant,,ENST00000456695,;FBXL13,intron_variant,,ENST00000313221,;FBXL13,intron_variant,,ENST00000455112,;FBXL13,intron_variant,,ENST00000379305,;FBXL13,intron_variant,,ENST00000436908,;FBXL13,intron_variant,,ENST00000379308,;LRRC17,non_coding_transcript_exon_variant,,ENST00000485478,;FBXL13,intron_variant,,ENST00000477915,;FBXL13,intron_variant,,ENST00000448002,;	1272	105	73	SUCCESS
WEE2	494551	.	GRCh37	7	141414139	141414139	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	83	0	ENST00000397541.2:c.473T>C	p.Phe158Ser	p.F158S	ENST00000397541	NM_001105558.1	158	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS43660.1	473	RADIA|MUSE	.	TCCCTTCACTC	NONE	.	.	PIRSF_domain:PIRSF037281,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF75	.	.	ENSP00000380675	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000397541	Transcript	.	.	ENSG00000214102	19684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WEE2_HUMAN	WEE2	HGNC	.	.	UPI000004E9D3	SNV	WEE2,missense_variant,p.Phe158Ser,ENST00000397541,;WEE2,upstream_gene_variant,,ENST00000493845,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000488785,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000471512,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000478332,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000462383,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000459753,;WEE2-AS1,intron_variant,,ENST00000465110,;	879	83	42	SUCCESS
CLCN1	1180	.	GRCh37	7	143016896	143016896	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	34	84	0	ENST00000343257.2:c.229G>A	p.Gly77Arg	p.G77R	ENST00000343257	NM_000083.2	77	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS5881.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAGGGATG	NONE	.	.	Prints_domain:PR01112,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	.	.	ENSP00000339867	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000343257	Transcript	.	.	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.19)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Gly77Arg,ENST00000343257,;CLCN1,upstream_gene_variant,,ENST00000495612,;CLCN1,upstream_gene_variant,,ENST00000455478,;CLCN1,upstream_gene_variant,,ENST00000432192,;	316	84	79	SUCCESS
ASIC3	9311	.	GRCh37	7	150747908	150747908	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	60	0	ENST00000349064.5:c.877C>G	p.Pro293Ala	p.P293A	ENST00000349064	NM_004769.3	293	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS5915.1	877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGCCAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF14,Gene3D:2qtsA02,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	.	.	ENSP00000297512	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000297512	Transcript	.	.	ENSG00000213199	101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.19)	.	ASIC3_HUMAN	ASIC3	HGNC	.	.	UPI00000300F6	SNV	ASIC3,missense_variant,p.Pro293Ala,ENST00000297512,;ASIC3,missense_variant,p.Pro293Ala,ENST00000357922,;ASIC3,missense_variant,p.Pro293Ala,ENST00000349064,;CDK5,downstream_gene_variant,,ENST00000297518,;ASIC3,upstream_gene_variant,,ENST00000490540,;CDK5,downstream_gene_variant,,ENST00000485972,;ASIC3,upstream_gene_variant,,ENST00000485929,;ABCB8,downstream_gene_variant,,ENST00000358849,;ASIC3,missense_variant,p.Pro293Ala,ENST00000377904,;ASIC3,missense_variant,p.Pro293Ala,ENST00000468325,;ASIC3,non_coding_transcript_exon_variant,,ENST00000474135,;ASIC3,upstream_gene_variant,,ENST00000498105,;CDK5,downstream_gene_variant,,ENST00000487703,;CDK5,downstream_gene_variant,,ENST00000476691,;	877	60	58	SUCCESS
BMPER	168667	.	GRCh37	7	34101636	34101636	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	140	0	ENST00000297161.2:c.1055G>T	p.Gly352Val	p.G352V	ENST00000297161	NM_133468.4	352	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5442.1	1055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGATGCT	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000297161	.	12/16	.	.	.	.	.	.	.	.	COSM3638231	12/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.934)	.	deleterious(0)	1	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Gly352Val,ENST00000297161,;BMPER,missense_variant,p.Gly352Val,ENST00000426693,;	1429	140	89	SUCCESS
GRM3	2913	.	GRCh37	7	86415661	86415661	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	78	265	0	ENST00000361669.2:c.553G>C	p.Asp185His	p.D185H	ENST00000361669	NM_000840.2	185	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS5600.1	553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATGATTAC	BUFFER|p.R183C|c.547C>T|4	.	.	hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000355316	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000361669	Transcript	.	.	ENSG00000198822	4595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRM3_HUMAN	GRM3	HGNC	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN	.	UPI0000153EFC	SNV	GRM3,missense_variant,p.Asp57His,ENST00000536043,;GRM3,missense_variant,p.Asp57His,ENST00000454217,;GRM3,missense_variant,p.Asp185His,ENST00000439827,;GRM3,missense_variant,p.Asp183His,ENST00000394720,;GRM3,missense_variant,p.Asp185His,ENST00000361669,;GRM3,intron_variant,,ENST00000546348,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000418031,;AC005009.2,intron_variant,,ENST00000452471,;	1652	265	199	SUCCESS
SLC45A4	57210	.	GRCh37	8	142228278	142228278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	61	0	ENST00000024061.3:c.1308G>T	p.Glu436Asp	p.E436D	ENST00000024061	NM_001080431.1	436	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS34948.1	1308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432	.	.	ENSP00000024061	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.498)	.	tolerated(0.08)	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,missense_variant,p.Glu436Asp,ENST00000024061,;SLC45A4,missense_variant,p.Glu429Asp,ENST00000433583,;SLC45A4,missense_variant,p.Glu487Asp,ENST00000517878,;SLC45A4,missense_variant,p.Glu436Asp,ENST00000519067,;SLC45A4,downstream_gene_variant,,ENST00000520137,;SLC45A4,downstream_gene_variant,,ENST00000519986,;	1616	61	76	SUCCESS
ADAM18	8749	.	GRCh37	8	39495084	39495084	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs771884090	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	74	153	1	ENST00000265707.5:c.689T>C	p.Ile230Thr	p.I230T	ENST00000265707	NM_014237.2	230	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS6113.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATACTGT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000265707	.	9/20	.	.	.	.	.	.	.	.	rs771884090	9/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.15)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Ile230Thr,ENST00000265707,;ADAM18,missense_variant,p.Ile206Thr,ENST00000379866,;ADAM18,5_prime_UTR_variant,,ENST00000541111,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	734	154	163	SUCCESS
NKX6-3	157848	.	GRCh37	8	41503971	41503971	+	synonymous_variant	Silent	SNP	G	G	A	rs977838689	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	88	0	ENST00000518699.2:c.795C>T	p.Val265=	p.V265=	ENST00000518699		265	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6118.1	405	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGTCAGACGCT	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF20	.	.	ENSP00000429553	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000524115	Transcript	.	.	ENSG00000165066	26328	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NKX63_HUMAN	NKX6-3	HGNC	.	.	UPI000006EB2C	SNV	NKX6-3,synonymous_variant,p.%3D,ENST00000518699,;NKX6-3,synonymous_variant,p.%3D,ENST00000524115,;	409	88	93	SUCCESS
MSANTD3	91283	.	GRCh37	9	103212870	103212870	+	synonymous_variant	Silent	SNP	C	C	T	rs755534896	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	78	156	0	ENST00000395067.2:c.450C>T	p.Cys150=	p.C150=	ENST00000395067	NM_080655.2	150	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS6749.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCGATGA	NONE	.	.	hmmpanther:PTHR21632	.	.	ENSP00000378506	.	3/3	.	.	.	.	.	.	.	.	rs755534896	3/3	PASS	ENST00000395067	Transcript	.	.	ENSG00000066697	23370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSD3_HUMAN	MSANTD3	HGNC	.	.	UPI000006CCC7	SNV	MSANTD3,synonymous_variant,p.%3D,ENST00000374886,;MSANTD3,synonymous_variant,p.%3D,ENST00000395067,;MSANTD3,3_prime_UTR_variant,,ENST00000374885,;TMEFF1,intron_variant,,ENST00000334943,;MSANTD3-TMEFF1,intron_variant,,ENST00000502978,;MSANTD3,non_coding_transcript_exon_variant,,ENST00000489377,;	721	156	180	SUCCESS
BAAT	570	.	GRCh37	9	104130448	104130448	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1380417991	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	56	119	0	ENST00000259407.2:c.623T>C	p.Leu208Ser	p.L208S	ENST00000259407	NM_001127610.1	208	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS6752.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAAATCT	NONE	.	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF016521,Gene3D:3.40.50.1820,Pfam_domain:PF08840,hmmpanther:PTHR10824:SF1,hmmpanther:PTHR10824	.	.	ENSP00000259407	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000259407	Transcript	.	.	ENSG00000136881	932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BAAT_HUMAN	BAAT	HGNC	.	.	UPI00000715D7	SNV	BAAT,missense_variant,p.Leu208Ser,ENST00000395051,;BAAT,missense_variant,p.Leu208Ser,ENST00000259407,;	732	119	129	SUCCESS
SLC28A3	64078	.	GRCh37	9	86955574	86955574	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs377212041	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	95	171	0	ENST00000376238.4:c.-26C>T		p.*9*	ENST00000376238	NM_001199633.1			0	C:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS6670.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGGTCTG	NONE	byCluster	.	.	.	C:0	ENSP00000365413	.	1/18	.	.	.	.	.	.	.	.	rs377212041	1/18	PASS	ENST00000376238	Transcript	.	.	ENSG00000197506	16484	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S28A3_HUMAN	SLC28A3	HGNC	F5GYE3_HUMAN	.	UPI000006F5A6	SNV	SLC28A3,5_prime_UTR_variant,,ENST00000376238,;SLC28A3,5_prime_UTR_variant,,ENST00000537648,;SLC28A3,non_coding_transcript_exon_variant,,ENST00000495823,;	25	171	177	SUCCESS
ROR2	4920	.	GRCh37	9	94495611	94495611	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148340413	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	99	145	0	ENST00000375708.3:c.730C>T	p.Arg244Trp	p.R244W	ENST00000375708	NM_004560.3	244	Cgg/Tgg	0	A:0.0005	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS6691.1	730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	TGTCCGGGAGC	BUFFER|p.T245A|c.733A>G|3	byFrequency|byCluster|by1000G	.	PIRSF_domain:PIRSF000624,Gene3D:2.40.20.10,Pfam_domain:PF01392,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50038	A:0	A:0.0001	ENSP00000364860	A:0	6/9	.	.	.	.	.	.	.	.	CM074998,rs148340413	6/9	common_in_exac	ENST00000375708	Transcript	.	A:0.0010	ENSG00000169071	10257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.849)	A:0.0041	deleterious(0.02)	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,missense_variant,p.Arg104Trp,ENST00000375715,;ROR2,missense_variant,p.Arg244Trp,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	929	146	203	SUCCESS
RNF128	79589	.	GRCh37	X	105970375	105970375	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	69	172	0	ENST00000255499.2:c.232G>T	p.Glu78Ter	p.E78*	ENST00000255499	NM_194463.1	78	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14521.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGGAGCCT	NONE	.	.	hmmpanther:PTHR22765:SF30,hmmpanther:PTHR22765	.	.	ENSP00000255499	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000255499	Transcript	.	.	ENSG00000133135	21153	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN128_HUMAN	RNF128	HGNC	A0PJI4_HUMAN	.	UPI0000046A7A	SNV	RNF128,stop_gained,p.Glu78Ter,ENST00000255499,;RNF128,intron_variant,,ENST00000418562,;RNF128,intron_variant,,ENST00000324342,;	482	172	187	SUCCESS
MMGT1	93380	.	GRCh37	X	135053250	135053250	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	217	521	0	ENST00000305963.2:c.99A>T	p.Leu33Phe	p.L33F	ENST00000305963	NM_173470.1	33	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS14653.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTTAATCG	NONE	.	.	hmmpanther:PTHR21181,hmmpanther:PTHR21181:SF15,Pfam_domain:PF10270	.	.	ENSP00000306220	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000305963	Transcript	.	.	ENSG00000169446	28100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.03)	.	MMGT1_HUMAN	MMGT1	HGNC	.	.	UPI000006D414	SNV	MMGT1,missense_variant,p.Leu98Phe,ENST00000433339,;MMGT1,missense_variant,p.Leu33Phe,ENST00000305963,;	487	521	443	SUCCESS
SOX3	6658	.	GRCh37	X	139587141	139587141	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	114	0	ENST00000370536.2:c.85C>A	p.Pro29Thr	p.P29T	ENST00000370536	NM_005634.2	29	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14669.1	85	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGTAGGC	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111	.	.	ENSP00000359567	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370536	Transcript	.	.	ENSG00000134595	11199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious_low_confidence(0.01)	.	SOX3_HUMAN	SOX3	HGNC	.	.	UPI000006F00F	SNV	SOX3,missense_variant,p.Pro29Thr,ENST00000370536,;	85	114	117	SUCCESS
CDKL5	6792	.	GRCh37	X	18606124	18606124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	229	586	1	ENST00000379989.3:c.605G>T	p.Gly202Val	p.G202V	ENST00000379989	NM_001037343.1	202	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS14186.1	605	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGGGGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF111,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000369325	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.947)	.	deleterious_low_confidence(0.01)	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	SNV	CDKL5,missense_variant,p.Gly202Val,ENST00000379989,;CDKL5,missense_variant,p.Gly202Val,ENST00000379996,;	890	587	435	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20181109	20181109	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	299	20	354	0	ENST00000379565.3:c.1814G>A	p.Gly605Asp	p.G605D	ENST00000379565	NM_004586.2	605	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS14197.1	1814	MUTECT|MUSE	.	GGACACCAAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Gly575Asp,ENST00000379548,;RPS6KA3,missense_variant,p.Gly605Asp,ENST00000379565,;RPS6KA3,missense_variant,p.Gly576Asp,ENST00000540702,;RPS6KA3,missense_variant,p.Gly577Asp,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000479809,;	2022	354	320	SUCCESS
DMD	1756	.	GRCh37	X	32715997	32715997	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	78	201	0	ENST00000357033.4:c.950T>A	p.Phe317Tyr	p.F317Y	ENST00000357033	NM_004007.2	317	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS14233.1	950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAAATGGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	9/79	.	.	.	.	.	.	.	.	.	9/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Phe317Tyr,ENST00000357033,;DMD,missense_variant,p.Phe313Tyr,ENST00000378677,;DMD,missense_variant,p.Phe309Tyr,ENST00000288447,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	1157	201	158	SUCCESS
CXorf22	0	.	GRCh37	X	35971756	35971756	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	109	390	1	ENST00000297866.5:c.1094A>G	p.Asp365Gly	p.D365G	ENST00000297866	NM_152632.3	365	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS14237.2	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGACTATG	NONE	.	.	hmmpanther:PTHR23053	.	.	ENSP00000297866	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000297866	Transcript	.	.	ENSG00000165164	28546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CX022_HUMAN	CXorf22	HGNC	.	.	UPI000022DD27	SNV	CXorf22,missense_variant,p.Asp365Gly,ENST00000297866,;CXorf22,missense_variant,p.Asp365Gly,ENST00000493930,;	1160	392	328	SUCCESS
ARAF	369	.	GRCh37	X	47430811	47430811	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	65	122	0	ENST00000377045.4:c.1776T>A	p.Asp592Glu	p.D592E	ENST00000377045	NM_001654.4	592	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS35232.1	1776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGATGAGTT	NONE	.	.	hmmpanther:PTHR23257:SF43,hmmpanther:PTHR23257	.	.	ENSP00000366244	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000377045	Transcript	.	.	ENSG00000078061	646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	ARAF_HUMAN	ARAF	HGNC	Q96II5_HUMAN	.	UPI0000000C41	SNV	ARAF,missense_variant,p.Asp592Glu,ENST00000377045,;SYN1,downstream_gene_variant,,ENST00000340666,;SYN1,downstream_gene_variant,,ENST00000295987,;ARAF,downstream_gene_variant,,ENST00000290277,;ARAF,splice_region_variant,,ENST00000470206,;ARAF,downstream_gene_variant,,ENST00000469505,;	1970	122	133	SUCCESS
WDR96	0	.	GRCh37	10	105991999	105991999	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	122	0	ENST00000357060.3:c.6G>A	p.Ala2=	p.A2=	ENST00000357060	NM_025145.5	2	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31281.1	6	RADIA|MUSE	.	CCTTGCGCCAT	NONE	.	.	.	.	.	ENSP00000349568	.	1/38	.	.	.	.	.	.	.	.	.	1/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,synonymous_variant,p.%3D,ENST00000428666,;WDR96,synonymous_variant,p.%3D,ENST00000357060,;WDR96,5_prime_UTR_variant,,ENST00000278064,;WDR96,5_prime_UTR_variant,,ENST00000369720,;WDR96,5_prime_UTR_variant,,ENST00000369719,;GSTO1,upstream_gene_variant,,ENST00000470554,;	122	122	16	SUCCESS
OAT	4942	.	GRCh37	10	126092375	126092375	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs774718349	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	141	0	ENST00000368845.5:c.763A>T	p.Arg255Trp	p.R255W	ENST00000368845	NM_000274.3	255	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7639.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGGTGC	NONE	.	.	hmmpanther:PTHR11986:SF18,hmmpanther:PTHR11986,Pfam_domain:PF00202,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01885,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000357838	.	6/10	.	.	.	.	.	.	.	.	rs774718349	6/10	PASS	ENST00000368845	Transcript	1	.	ENSG00000065154	8091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	deleterious(0)	.	OAT_HUMAN	OAT	HGNC	.	.	UPI0000000C1B	SNV	OAT,missense_variant,p.Arg117Trp,ENST00000539214,;OAT,missense_variant,p.Arg255Trp,ENST00000368845,;OAT,non_coding_transcript_exon_variant,,ENST00000467675,;OAT,downstream_gene_variant,,ENST00000476917,;OAT,downstream_gene_variant,,ENST00000483711,;OAT,upstream_gene_variant,,ENST00000471127,;	856	141	37	SUCCESS
YME1L1	10730	.	GRCh37	10	27436456	27436456	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs369706082	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	35	286	0	ENST00000326799.3:c.310del	p.Arg104ValfsTer15	p.R104Vfs*15	ENST00000326799	NM_139312.2	104	Cgt/gt	0	A:0	.	.	.	.	-	R/X	protein_coding	YES	CCDS7152.1	310	VARSCANI*|PINDEL	.	CTGGACGGATGT	NONE	byFrequency|byCluster	.	HAMAP:MF_01458,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF37	.	A:0.0001	ENSP00000318480	.	3/20	.	.	.	.	.	.	.	.	rs369706082,COSM3436914	3/20	PASS	ENST00000326799	Transcript	.	.	ENSG00000136758	12843	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	YMEL1_HUMAN	YME1L1	HGNC	.	.	UPI000013DBDD	deletion	YME1L1,frameshift_variant,p.Arg104ValfsTer15,ENST00000326799,;YME1L1,frameshift_variant,p.Arg104ValfsTer30,ENST00000477432,;YME1L1,intron_variant,,ENST00000375972,;YME1L1,intron_variant,,ENST00000396296,;YME1L1,intron_variant,,ENST00000376016,;YME1L1,intron_variant,,ENST00000491542,;YME1L1,intron_variant,,ENST00000427324,;	459	286	122	SUCCESS
NRG3	10718	.	GRCh37	10	84498384	84498384	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	140	0	ENST00000404547.1:c.1005T>C	p.Thr335=	p.T335=	ENST00000404547		335	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31233.1	1005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTGATTC	NONE	.	.	hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18	.	.	ENSP00000361214	.	3/9	.	.	.	.	.	.	.	.	COSM920849,COSM920850	3/9	PASS	ENST00000372141	Transcript	.	.	ENSG00000185737	7999	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	NRG3_HUMAN	NRG3	HGNC	D9ZHQ8_HUMAN	.	UPI00003D64C0	SNV	NRG3,synonymous_variant,p.%3D,ENST00000404576,;NRG3,synonymous_variant,p.%3D,ENST00000404547,;NRG3,synonymous_variant,p.%3D,ENST00000556918,;NRG3,synonymous_variant,p.%3D,ENST00000372142,;NRG3,synonymous_variant,p.%3D,ENST00000372141,;NRG3,3_prime_UTR_variant,,ENST00000555784,;NRG3,3_prime_UTR_variant,,ENST00000602794,;	1032	140	61	SUCCESS
NRG3	10718	.	GRCh37	10	84745054	84745054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	114	0	ENST00000404547.1:c.1856T>C	p.Val619Ala	p.V619A	ENST00000404547		619	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31233.1	1784	RADIA|MUSE|VARSCANS	.	TGAAGTCAAAA	NONE	.	.	hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18	.	.	ENSP00000361214	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000372141	Transcript	.	.	ENSG00000185737	7999	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.047)	.	tolerated(0.33)	.	NRG3_HUMAN	NRG3	HGNC	D9ZHQ8_HUMAN	.	UPI00003D64C0	SNV	NRG3,missense_variant,p.Val399Ala,ENST00000404576,;NRG3,missense_variant,p.Val619Ala,ENST00000404547,;NRG3,missense_variant,p.Val425Ala,ENST00000556918,;NRG3,missense_variant,p.Val398Ala,ENST00000372142,;NRG3,missense_variant,p.Val245Ala,ENST00000537893,;NRG3,missense_variant,p.Val245Ala,ENST00000545131,;NRG3,missense_variant,p.Val595Ala,ENST00000372141,;NRG3,3_prime_UTR_variant,,ENST00000602794,;NRG3,3_prime_UTR_variant,,ENST00000555784,;	1811	114	27	SUCCESS
FRA10AC1	118924	.	GRCh37	10	95436450	95436450	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	41	207	1	ENST00000359204.4:c.788-2A>G		p.X263_splice	ENST00000359204	NM_145246.4	263		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7430.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTGAAAA	NONE	.	.	.	.	.	ENSP00000360488	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359204	Transcript	1	.	ENSG00000148690	1162	.	.	HIGH	11/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F10C1_HUMAN	FRA10AC1	HGNC	.	.	UPI000006F7A9	SNV	FRA10AC1,splice_acceptor_variant,,ENST00000394100,;FRA10AC1,splice_acceptor_variant,,ENST00000371430,;FRA10AC1,splice_acceptor_variant,,ENST00000536233,;FRA10AC1,splice_acceptor_variant,,ENST00000359204,;FRA10AC1,upstream_gene_variant,,ENST00000462771,;FRA10AC1,upstream_gene_variant,,ENST00000460752,;FRA10AC1,upstream_gene_variant,,ENST00000483229,;	.	208	79	SUCCESS
CYP2C8	1558	.	GRCh37	10	96802834	96802834	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	146	0	ENST00000371270.3:c.962C>G	p.Ala321Gly	p.A321G	ENST00000371270	NM_000770.3	321	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS7438.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAGCTGAC	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000360317	.	7/9	.	.	.	.	.	.	.	.	COSM921752	7/9	PASS	ENST00000371270	Transcript	1	.	ENSG00000138115	2622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.023)	.	tolerated(0.06)	1	CP2C8_HUMAN	CYP2C8	HGNC	B7Z1F5_HUMAN	.	UPI0000128256	SNV	CYP2C8,missense_variant,p.Ala235Gly,ENST00000539050,;CYP2C8,missense_variant,p.Ala321Gly,ENST00000371270,;CYP2C8,missense_variant,p.Ala219Gly,ENST00000535898,;CYP2C8,missense_variant,p.Ala321Gly,ENST00000527420,;CYP2C8,splice_region_variant,,ENST00000525991,;CYP2C8,splice_region_variant,,ENST00000527953,;CYP2C8,splice_region_variant,,ENST00000533320,;CYP2C8,splice_region_variant,,ENST00000479946,;CYP2C8,splice_region_variant,,ENST00000526814,;CYP2C8,splice_region_variant,,ENST00000490994,;CYP2C8,upstream_gene_variant,,ENST00000531714,;	1057	146	36	SUCCESS
OR8D2	283160	.	GRCh37	11	124189177	124189177	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	66	0	ENST00000357438.2:c.917G>T	p.Arg306Met	p.R306M	ENST00000357438	NM_001002918.1	306	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS31707.1	917	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCTAGTC	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF278,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350022	.	1/1	.	.	.	.	.	.	.	.	COSM337236	1/1	oxog	ENST00000357438	Transcript	.	.	ENSG00000197263	8482	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.039)	.	tolerated(0.08)	1	OR8D2_HUMAN	OR8D2	HGNC	.	.	UPI0000041D8E	SNV	OR8D2,missense_variant,p.Arg306Met,ENST00000357438,;	1008	66	31	SUCCESS
ACAD8	27034	.	GRCh37	11	134131672	134131672	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	134	0	ENST00000281182.4:c.980T>C	p.Val327Ala	p.V327A	ENST00000281182	NM_014384.2	327	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS8498.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGTGGCCG	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Pfam_domain:PF00441,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	.	.	ENSP00000281182	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.754)	.	tolerated(0.23)	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,missense_variant,p.Val327Ala,ENST00000281182,;ACAD8,missense_variant,p.Val200Ala,ENST00000374752,;ACAD8,missense_variant,p.Val250Ala,ENST00000537423,;ACAD8,3_prime_UTR_variant,,ENST00000543332,;ACAD8,upstream_gene_variant,,ENST00000524502,;ACAD8,non_coding_transcript_exon_variant,,ENST00000524547,;ACAD8,3_prime_UTR_variant,,ENST00000524426,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527665,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,downstream_gene_variant,,ENST00000528325,;ACAD8,downstream_gene_variant,,ENST00000527082,;ACAD8,downstream_gene_variant,,ENST00000534433,;ACAD8,downstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000527713,;ACAD8,downstream_gene_variant,,ENST00000530533,;ACAD8,downstream_gene_variant,,ENST00000534240,;ACAD8,downstream_gene_variant,,ENST00000525961,;	1086	134	23	SUCCESS
BRSK2	9024	.	GRCh37	11	1466531	1466531	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	118	0	ENST00000528841.1:c.820A>G	p.Lys274Glu	p.K274E	ENST00000528841		274	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS58108.1	958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAAGAAT	NONE	.	.	hmmpanther:PTHR24343:SF84,hmmpanther:PTHR24343,Gene3D:1.10.510.10	.	.	ENSP00000371614	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000382179	Transcript	.	.	ENSG00000174672	11405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	tolerated(0.08)	.	BRSK2_HUMAN	BRSK2	HGNC	E9PRY3_HUMAN,E9PPI2_HUMAN	.	UPI000035E827	SNV	BRSK2,missense_variant,p.Lys214Glu,ENST00000528710,;BRSK2,missense_variant,p.Lys274Glu,ENST00000526678,;BRSK2,missense_variant,p.Lys274Glu,ENST00000308219,;BRSK2,missense_variant,p.Lys274Glu,ENST00000308230,;BRSK2,missense_variant,p.Lys320Glu,ENST00000382179,;BRSK2,missense_variant,p.Lys274Glu,ENST00000528841,;BRSK2,missense_variant,p.Lys274Glu,ENST00000531197,;BRSK2,5_prime_UTR_variant,,ENST00000544817,;BRSK2,downstream_gene_variant,,ENST00000524702,;BRSK2,downstream_gene_variant,,ENST00000528596,;BRSK2,missense_variant,p.Gln169Arg,ENST00000529951,;BRSK2,missense_variant,p.Lys274Glu,ENST00000529433,;BRSK2,non_coding_transcript_exon_variant,,ENST00000531078,;	1211	118	26	SUCCESS
ACCSL	390110	.	GRCh37	11	44072129	44072129	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	191	0	ENST00000378832.1:c.592G>T	p.Glu198Ter	p.E198*	ENST00000378832	NM_001031854.2	198	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41636.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGAGGAC	NONE	.	.	hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00753	.	.	ENSP00000368109	.	3/14	.	.	.	.	.	.	.	.	COSM3809228	3/14	PASS	ENST00000378832	Transcript	.	.	ENSG00000205126	34391	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	1A1L2_HUMAN	ACCSL	HGNC	.	.	UPI000023785D	SNV	ACCSL,stop_gained,p.Glu198Ter,ENST00000378832,;ACCSL,3_prime_UTR_variant,,ENST00000527145,;	648	191	57	SUCCESS
TP53I11	9537	.	GRCh37	11	44959105	44959105	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	201	0	ENST00000308212.5:c.188+1G>T		p.X63_splice	ENST00000308212	NM_001258321.1	63		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7911.1	.	RADIA|MUSE|VARSCANS	.	GCTCACCTGAG	NONE	.	.	.	.	.	ENSP00000436152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000533940	Transcript	.	.	ENSG00000175274	16842	.	.	HIGH	6/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P5I11_HUMAN	TP53I11	HGNC	E9PS55_HUMAN,E9PQ46_HUMAN,E9PN66_HUMAN,E9PMW4_HUMAN,E9PKZ4_HUMAN,E9PKN9_HUMAN	.	UPI00001BB8BA	SNV	TP53I11,splice_donor_variant,,ENST00000528473,;TP53I11,splice_donor_variant,,ENST00000530035,;TP53I11,splice_donor_variant,,ENST00000533443,;TP53I11,splice_donor_variant,,ENST00000531928,;TP53I11,splice_donor_variant,,ENST00000525138,;TP53I11,splice_donor_variant,,ENST00000525683,;TP53I11,splice_donor_variant,,ENST00000533940,;TP53I11,splice_donor_variant,,ENST00000527685,;TP53I11,splice_donor_variant,,ENST00000395648,;TP53I11,splice_donor_variant,,ENST00000525680,;TP53I11,splice_donor_variant,,ENST00000308212,;TP53I11,intron_variant,,ENST00000528290,;TP53I11,downstream_gene_variant,,ENST00000533937,;TP53I11,splice_donor_variant,,ENST00000531130,;TP53I11,splice_donor_variant,,ENST00000533955,;TP53I11,splice_donor_variant,,ENST00000532921,;TP53I11,splice_donor_variant,,ENST00000354556,;TP53I11,splice_donor_variant,,ENST00000525145,;TP53I11,intron_variant,,ENST00000532253,;TP53I11,upstream_gene_variant,,ENST00000524774,;TP53I11,upstream_gene_variant,,ENST00000525667,;	.	201	42	SUCCESS
TCN1	6947	.	GRCh37	11	59620709	59620709	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs759084692	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	174	0	ENST00000257264.3:c.1207G>T	p.Glu403Ter	p.E403*	ENST00000257264	NM_001062.3	403	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7978.1	1207	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCCCAGT	NONE	.	.	hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF14478	.	.	ENSP00000257264	.	8/9	.	.	.	.	.	.	.	.	rs759084692	8/9	PASS	ENST00000257264	Transcript	.	.	ENSG00000134827	11652	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCO1_HUMAN	TCN1	HGNC	.	.	UPI000013CF55	SNV	TCN1,stop_gained,p.Glu403Ter,ENST00000257264,;TCN1,downstream_gene_variant,,ENST00000532419,;TCN1,downstream_gene_variant,,ENST00000534531,;TCN1,non_coding_transcript_exon_variant,,ENST00000529251,;	1312	174	61	SUCCESS
NXF1	10482	.	GRCh37	11	62560160	62560160	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	157	0	ENST00000294172.2:c.1774A>T	p.Asn592Tyr	p.N592Y	ENST00000294172	NM_006362.4	592	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8037.1	1774	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTTGTCCT	NONE	.	.	Superfamily_domains:SSF46934,SMART_domains:SM00804,Pfam_domain:PF03943,Gene3D:1.10.8.10,hmmpanther:PTHR10662:SF27,hmmpanther:PTHR10662,PROSITE_profiles:PS51281	.	.	ENSP00000436679	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000532297	Transcript	.	.	ENSG00000162231	8071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NXF1_HUMAN	NXF1	HGNC	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN	.	UPI00000012B9	SNV	NXF1,missense_variant,p.Asn592Tyr,ENST00000532297,;NXF1,missense_variant,p.Asn592Tyr,ENST00000294172,;NXF1,missense_variant,p.Asn97Tyr,ENST00000527902,;NXF1,3_prime_UTR_variant,,ENST00000531709,;TMEM179B,downstream_gene_variant,,ENST00000526546,;NXF1,downstream_gene_variant,,ENST00000530875,;TMEM179B,downstream_gene_variant,,ENST00000533861,;TMEM223,upstream_gene_variant,,ENST00000525631,;TMEM223,upstream_gene_variant,,ENST00000528367,;TMEM179B,downstream_gene_variant,,ENST00000333449,;TMEM223,upstream_gene_variant,,ENST00000307366,;NXF1,non_coding_transcript_exon_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000531579,;TMEM223,upstream_gene_variant,,ENST00000527073,;NXF1,non_coding_transcript_exon_variant,,ENST00000533499,;NXF1,non_coding_transcript_exon_variant,,ENST00000527497,;NXF1,downstream_gene_variant,,ENST00000533440,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000531872,;	2404	157	46	SUCCESS
SLCO1B7	338821	.	GRCh37	12	21168632	21168632	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	45	0	ENST00000421593.2:c.3G>A	p.Met1?	p.M1?	ENST00000421593	NM_001009562.4	1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS44843.1	3	MUTECT|MUSE	.	TTTATGAAAAT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF78,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805	.	.	ENSP00000394168	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000421593	Transcript	.	.	ENSG00000205754	32934	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	SO1B7_HUMAN	SLCO1B7	HGNC	.	.	UPI0000E5E120	SNV	SLCO1B7,start_lost,p.Met1?,ENST00000421593,;SLCO1B7,intron_variant,,ENST00000554957,;SLCO1B3,intron_variant,,ENST00000553473,;LST3,intron_variant,,ENST00000540229,;LST3,intron_variant,,ENST00000381541,;	3	45	10	SUCCESS
CPNE8	144402	.	GRCh37	12	39161460	39161460	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	105	0	ENST00000331366.5:c.552T>A	p.Phe184Leu	p.F184L	ENST00000331366	NM_153634.2	184	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS8733.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATAAAATAC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10857:SF9,hmmpanther:PTHR10857,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000329748	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000331366	Transcript	.	.	ENSG00000139117	23498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.509)	.	tolerated(0.15)	.	CPNE8_HUMAN	CPNE8	HGNC	Q86VY2_HUMAN	.	UPI000015FF59	SNV	CPNE8,missense_variant,p.Phe172Leu,ENST00000360449,;CPNE8,missense_variant,p.Phe184Leu,ENST00000331366,;CPNE8,downstream_gene_variant,,ENST00000550863,;CPNE8,non_coding_transcript_exon_variant,,ENST00000551855,;	649	105	27	SUCCESS
FKBP11	51303	.	GRCh37	12	49317594	49317594	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1185599350	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	173	0	ENST00000550765.1:c.359G>A	p.Gly120Glu	p.G120E	ENST00000550765	NM_016594.2	120	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS8773.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTCCATAG	NONE	.	.	PROSITE_profiles:PS50059,hmmpanther:PTHR10516:SF13,hmmpanther:PTHR10516,Pfam_domain:PF00254,Gene3D:3.10.50.40,Superfamily_domains:SSF54534	.	.	ENSP00000449751	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000550765	Transcript	.	.	ENSG00000134285	18624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FKB11_HUMAN	FKBP11	HGNC	Q86SR8_HUMAN,E9PAR0_HUMAN	.	UPI00000495C5	SNV	FKBP11,missense_variant,p.Gly120Glu,ENST00000552878,;FKBP11,missense_variant,p.Gly18Glu,ENST00000444214,;FKBP11,missense_variant,p.Gly120Glu,ENST00000453172,;FKBP11,missense_variant,p.Gly120Glu,ENST00000550765,;AC073610.5,intron_variant,,ENST00000537495,;CCDC65,intron_variant,,ENST00000266984,;RP11-302B13.5,intron_variant,,ENST00000398092,;CCDC65,downstream_gene_variant,,ENST00000552942,;CCDC65,downstream_gene_variant,,ENST00000320516,;Y_RNA,downstream_gene_variant,,ENST00000364808,;FKBP11,3_prime_UTR_variant,,ENST00000256680,;FKBP11,3_prime_UTR_variant,,ENST00000547789,;FKBP11,3_prime_UTR_variant,,ENST00000546847,;FKBP11,non_coding_transcript_exon_variant,,ENST00000546671,;FKBP11,non_coding_transcript_exon_variant,,ENST00000551694,;FKBP11,non_coding_transcript_exon_variant,,ENST00000551094,;FKBP11,non_coding_transcript_exon_variant,,ENST00000553027,;FKBP11,downstream_gene_variant,,ENST00000549084,;FKBP11,downstream_gene_variant,,ENST00000551807,;CCDC65,downstream_gene_variant,,ENST00000547861,;CCDC65,downstream_gene_variant,,ENST00000552188,;	758	173	56	SUCCESS
LEMD3	23592	.	GRCh37	12	65563533	65563533	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	66	0	ENST00000308330.2:c.157C>G	p.Gln53Glu	p.Q53E	ENST00000308330	NM_014319.4	53	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS8972.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAACAGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428,Gene3D:1.10.720.40,Superfamily_domains:SSF63451	.	.	ENSP00000308369	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000308330	Transcript	.	.	ENSG00000174106	28887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	deleterious(0.03)	.	MAN1_HUMAN	LEMD3	HGNC	B4DI45_HUMAN	.	UPI000012EB75	SNV	LEMD3,missense_variant,p.Gln53Glu,ENST00000308330,;LEMD3,non_coding_transcript_exon_variant,,ENST00000541171,;	183	66	22	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72030627	72030627	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	60	0	ENST00000378743.3:c.1935+3A>T		p.X645_splice	ENST00000378743	NM_144982.4	645		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41813.1	.	RADIA|SOMATICSNIPER|MUSE	.	TAAATTACCTC	NONE	.	.	.	.	.	ENSP00000368017	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	LOW	8/34	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,splice_region_variant,,ENST00000378743,;SNORA17,upstream_gene_variant,,ENST00000391159,;ZFC3H1,splice_region_variant,,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546606,;	.	60	13	SUCCESS
TPH2	121278	.	GRCh37	12	72388234	72388234	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	129	0	ENST00000333850.3:c.957A>G	p.Glu319=	p.E319=	ENST00000333850	NM_173353.3	319	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS31859.1	957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAACTCTT	BUFFER|p.T316T|c.948A>G|4	.	.	PROSITE_profiles:PS51410,hmmpanther:PTHR11473:SF16,hmmpanther:PTHR11473,PROSITE_patterns:PS00367,TIGRFAM_domain:TIGR01270,Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF56534	.	.	ENSP00000329093	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000333850	Transcript	.	.	ENSG00000139287	20692	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPH2_HUMAN	TPH2	HGNC	Q14CC5_HUMAN,B3VS65_HUMAN,B3VS60_HUMAN,B3VS55_HUMAN,B3VS50_HUMAN,B3VS45_HUMAN,B3VS40_HUMAN,B3VS35_HUMAN,B3VS30_HUMAN,B3VS25_HUMAN,B3VS20_HUMAN,B3VS15_HUMAN	.	UPI000007446F	SNV	TPH2,synonymous_variant,p.%3D,ENST00000333850,;	1098	129	35	SUCCESS
FARP1	10160	.	GRCh37	13	99037964	99037964	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	50	0	ENST00000319562.6:c.655G>T	p.Ala219Ser	p.A219S	ENST00000319562	NM_005766.2	219	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9487.1	655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTGCCCGT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935	.	.	ENSP00000322926	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,missense_variant,p.Ala219Ser,ENST00000376586,;FARP1,missense_variant,p.Ala219Ser,ENST00000595437,;FARP1,missense_variant,p.Ala219Ser,ENST00000319562,;FARP1,missense_variant,p.Ala87Ser,ENST00000601009,;FARP1,5_prime_UTR_variant,,ENST00000599040,;FARP1,downstream_gene_variant,,ENST00000598389,;FARP1,non_coding_transcript_exon_variant,,ENST00000602263,;FARP1,non_coding_transcript_exon_variant,,ENST00000595380,;FARP1,non_coding_transcript_exon_variant,,ENST00000593548,;FARP1,downstream_gene_variant,,ENST00000601853,;FARP1,downstream_gene_variant,,ENST00000595817,;FARP1,downstream_gene_variant,,ENST00000600032,;FARP1,non_coding_transcript_exon_variant,,ENST00000490389,;FARP1,non_coding_transcript_exon_variant,,ENST00000596467,;FARP1,upstream_gene_variant,,ENST00000600190,;	920	50	20	SUCCESS
IGHG1	3500	.	GRCh37	14	106208338	106208338	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376405154	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	312	0	ENST00000390549.2:c.562G>A	p.Val188Ile	p.V188I	ENST00000390549		188	Gtc/Atc	0	T:0.0005	T:0	.	T:0	.	T	V/I	IG_C_gene	YES	.	562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACGCTGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835	T:0.001	T:0	ENSP00000374990	T:0	3/6	.	.	.	.	.	.	.	.	rs376405154	3/6	PASS	ENST00000390548	Transcript	1	T:0.0002	ENSG00000211896	5525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	T:0	tolerated(0.25)	.	.	IGHG1	HGNC	.	.	UPI000173A69D	SNV	IGHG1,missense_variant,p.Val188Ile,ENST00000390549,;IGHG1,missense_variant,p.Val188Ile,ENST00000390548,;IGHG1,intron_variant,,ENST00000390542,;	562	312	71	SUCCESS
IGHD	3495	.	GRCh37	14	106303896	106303896	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	495	0	ENST00000390556.2:c.1166A>T	p.Glu389Val	p.E389V	ENST00000390556		389	gAg/gTg	0	.	.	.	.	.	A	E/V	IG_C_gene	YES	.	1166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTCATCC	NONE	.	.	hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266	.	.	ENSP00000374998	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000390556	Transcript	.	.	ENSG00000211898	5480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	deleterious_low_confidence(0)	.	.	IGHD	HGNC	.	.	UPI000173A6A0	SNV	IGHD,missense_variant,p.Glu389Val,ENST00000390556,;	1165	496	99	SUCCESS
FBN1	2200	.	GRCh37	15	48802359	48802359	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	155	0	ENST00000316623.5:c.1596T>G	p.Asp532Glu	p.D532E	ENST00000316623	NM_000138.4	532	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS32232.1	1596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCATCAAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57184	.	.	ENSP00000325527	.	14/66	.	.	.	.	.	.	.	.	.	14/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Asp532Glu,ENST00000316623,;FBN1,intron_variant,,ENST00000537463,;	2052	155	49	SUCCESS
MCTP2	55784	.	GRCh37	15	94841767	94841767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	44	0	ENST00000357742.4:c.273C>A	p.Ser91Arg	p.S91R	ENST00000357742	NM_018349.3	91	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS32338.1	273	RADIA|SOMATICSNIPER|MUSE	.	AAGAGCAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5	.	.	ENSP00000350377	.	1/22	.	.	.	.	.	.	.	.	.	1/22	oxog	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.3)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Ser91Arg,ENST00000357742,;MCTP2,missense_variant,p.Ser91Arg,ENST00000451018,;MCTP2,missense_variant,p.Ser91Arg,ENST00000543482,;MCTP2,5_prime_UTR_variant,,ENST00000331706,;MCTP2,non_coding_transcript_exon_variant,,ENST00000561608,;MCTP2,missense_variant,p.Ser91Arg,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000556363,;	273	44	15	SUCCESS
RPS2	6187	.	GRCh37	16	2013233	2013233	+	synonymous_variant	Silent	SNP	G	G	A	rs377086871	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	111	0	ENST00000343262.4:c.292C>T	p.Leu98=	p.L98=	ENST00000343262	NM_002952.3	98	Ctg/Ttg	0	A:0.0005	A:0.0008	.	A:0	.	A	L	protein_coding	YES	CCDS10452.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGAAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF54768,TIGRFAM_domain:TIGR01020,Gene3D:3.30.160.20,hmmpanther:PTHR13718	A:0	A:0	ENSP00000341885	A:0	4/7	.	.	.	.	.	.	.	.	rs377086871	4/7	PASS	ENST00000343262	Transcript	.	A:0.0002	ENSG00000140988	10404	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	RS2_HUMAN	RPS2	HGNC	Q9BSW5_HUMAN,Q8NI62_HUMAN,O60249_HUMAN,H3BNG3_HUMAN,E9PMM9_HUMAN	.	UPI000000128D	SNV	RPS2,synonymous_variant,p.%3D,ENST00000526522,;RPS2,synonymous_variant,p.%3D,ENST00000563194,;RPS2,synonymous_variant,p.%3D,ENST00000530225,;RPS2,synonymous_variant,p.%3D,ENST00000527302,;RPS2,synonymous_variant,p.%3D,ENST00000343262,;RPS2,synonymous_variant,p.%3D,ENST00000529806,;RPS2,synonymous_variant,p.%3D,ENST00000526586,;RPS2,intron_variant,,ENST00000533186,;RNF151,upstream_gene_variant,,ENST00000321392,;NDUFB10,downstream_gene_variant,,ENST00000543683,;NDUFB10,downstream_gene_variant,,ENST00000268668,;NDUFB10,downstream_gene_variant,,ENST00000569148,;RNF151,upstream_gene_variant,,ENST00000569714,;RNF151,upstream_gene_variant,,ENST00000569210,;NDUFB10,downstream_gene_variant,,ENST00000570172,;SNHG9,upstream_gene_variant,,ENST00000564014,;SNHG9,upstream_gene_variant,,ENST00000459373,;SNORA10,upstream_gene_variant,,ENST00000384084,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNORA64,upstream_gene_variant,,ENST00000384674,;RPS2,3_prime_UTR_variant,,ENST00000532746,;RPS2,non_coding_transcript_exon_variant,,ENST00000526908,;RPS2,non_coding_transcript_exon_variant,,ENST00000527826,;RPS2,non_coding_transcript_exon_variant,,ENST00000527109,;RPS2,non_coding_transcript_exon_variant,,ENST00000531065,;RPS2,non_coding_transcript_exon_variant,,ENST00000534461,;RPS2,non_coding_transcript_exon_variant,,ENST00000527871,;RPS2,non_coding_transcript_exon_variant,,ENST00000533872,;RPS2,non_coding_transcript_exon_variant,,ENST00000533161,;NDUFB10,downstream_gene_variant,,ENST00000565031,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	349	111	30	SUCCESS
PHKG2	5261	.	GRCh37	16	30768227	30768227	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs564686049	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	51	0	ENST00000563588.1:c.1030C>T	p.Arg344Trp	p.R344W	ENST00000563588	NM_000294.2	344	Cgg/Tgg	0	.	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS10690.1	1030	MUTECT|MUSE	.	CGCTGCGGTCA	NONE	by1000G	.	hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF121,Prints_domain:PR01049	T:0	.	ENSP00000455607	T:0	10/10	.	.	.	.	.	.	.	.	rs564686049	10/10	PASS	ENST00000563588	Transcript	.	T:0.0002	ENSG00000156873	8931	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.935)	T:0.001	deleterious(0)	.	PHKG2_HUMAN	PHKG2	HGNC	Q59GQ4_HUMAN,H3BTW6_HUMAN,H3BP07_HUMAN	.	UPI000012DF54	SNV	PHKG2,missense_variant,p.Arg348Trp,ENST00000328273,;PHKG2,missense_variant,p.Arg344Trp,ENST00000424889,;PHKG2,missense_variant,p.Arg344Trp,ENST00000563588,;C16orf93,downstream_gene_variant,,ENST00000545825,;PHKG2,downstream_gene_variant,,ENST00000561712,;C16orf93,downstream_gene_variant,,ENST00000541260,;PHKG2,downstream_gene_variant,,ENST00000565897,;PHKG2,downstream_gene_variant,,ENST00000565924,;RNF40,upstream_gene_variant,,ENST00000563909,;C16orf93,downstream_gene_variant,,ENST00000535476,;C16orf93,downstream_gene_variant,,ENST00000544613,;C16orf93,downstream_gene_variant,,ENST00000543610,;PHKG2,non_coding_transcript_exon_variant,,ENST00000563913,;PHKG2,non_coding_transcript_exon_variant,,ENST00000564838,;C16orf93,downstream_gene_variant,,ENST00000544487,;C16orf93,downstream_gene_variant,,ENST00000544643,;PHKG2,downstream_gene_variant,,ENST00000569762,;PHKG2,downstream_gene_variant,,ENST00000563607,;C16orf93,downstream_gene_variant,,ENST00000545809,;PHKG2,downstream_gene_variant,,ENST00000569684,;C16orf93,downstream_gene_variant,,ENST00000543128,;C16orf93,downstream_gene_variant,,ENST00000546006,;C16orf93,downstream_gene_variant,,ENST00000433909,;C16orf93,downstream_gene_variant,,ENST00000537986,;	1269	51	12	SUCCESS
CBFA2T3	863	.	GRCh37	16	88943532	88943532	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	59	0	ENST00000268679.4:c.1814A>G	p.Asp605Gly	p.D605G	ENST00000268679	NM_005187.5	605	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS10972.1	1814	RADIA|SOMATICSNIPER|MUSE	.	CCGGGTCGGCC	NONE	.	.	hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6,Prints_domain:PR01878	.	.	ENSP00000268679	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000268679	Transcript	.	.	ENSG00000129993	1537	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.28)	.	MTG16_HUMAN	CBFA2T3	HGNC	H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN	.	UPI0000167F93	SNV	CBFA2T3,missense_variant,p.Asp519Gly,ENST00000360302,;CBFA2T3,missense_variant,p.Asp567Gly,ENST00000436887,;CBFA2T3,missense_variant,p.Asp519Gly,ENST00000327483,;CBFA2T3,missense_variant,p.Asp605Gly,ENST00000268679,;CBFA2T3,missense_variant,p.Asp529Gly,ENST00000448839,;CBFA2T3,downstream_gene_variant,,ENST00000569464,;RP11-830F9.5,upstream_gene_variant,,ENST00000569249,;RP11-830F9.5,upstream_gene_variant,,ENST00000562574,;RP11-830F9.5,upstream_gene_variant,,ENST00000562405,;CBFA2T3,non_coding_transcript_exon_variant,,ENST00000563856,;CBFA2T3,non_coding_transcript_exon_variant,,ENST00000563920,;CBFA2T3,downstream_gene_variant,,ENST00000566868,;	2211	59	15	SUCCESS
MIEF2	125170	.	GRCh37	17	18166172	18166172	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	76	0	ENST00000323019.4:c.138C>T	p.Ala46=	p.A46=	ENST00000323019	NM_139162.3	46	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS45624.1	171	RADIA|MUSE	.	CTGGCCGTGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16451,hmmpanther:PTHR16451:SF10	.	.	ENSP00000379057	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000395706	Transcript	.	.	ENSG00000177427	17920	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MID49_HUMAN	MIEF2	HGNC	.	.	UPI00005A76FC	SNV	MIEF2,synonymous_variant,p.%3D,ENST00000395706,;MIEF2,synonymous_variant,p.%3D,ENST00000323019,;MIEF2,synonymous_variant,p.%3D,ENST00000578174,;MIEF2,synonymous_variant,p.%3D,ENST00000395704,;MIEF2,synonymous_variant,p.%3D,ENST00000578621,;MIEF2,synonymous_variant,p.%3D,ENST00000579341,;MIEF2,synonymous_variant,p.%3D,ENST00000395703,;FLII,upstream_gene_variant,,ENST00000327031,;FLII,upstream_gene_variant,,ENST00000379450,;FLII,upstream_gene_variant,,ENST00000579294,;FLII,upstream_gene_variant,,ENST00000578558,;FLII,upstream_gene_variant,,ENST00000545457,;MIEF2,intron_variant,,ENST00000577216,;FLII,upstream_gene_variant,,ENST00000584444,;MIEF2,non_coding_transcript_exon_variant,,ENST00000583745,;FLII,upstream_gene_variant,,ENST00000582626,;FLII,upstream_gene_variant,,ENST00000478416,;FLII,upstream_gene_variant,,ENST00000578101,;	197	76	11	SUCCESS
SPAG5	10615	.	GRCh37	17	26912926	26912926	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs754701067	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	178	0	ENST00000321765.5:c.1696G>T	p.Glu566Ter	p.E566*	ENST00000321765	NM_006461.3	566	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32594.1	1696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCCTCCC	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0	.	.	ENSP00000323300	.	7/24	.	.	.	.	.	.	.	.	rs754701067	7/24	PASS	ENST00000321765	Transcript	.	.	ENSG00000076382	13452	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAG5_HUMAN	SPAG5	HGNC	.	.	UPI0000073414	SNV	SPAG5,stop_gained,p.Glu566Ter,ENST00000321765,;SPAG5,stop_gained,p.Glu106Ter,ENST00000584206,;RP11-192H23.4,intron_variant,,ENST00000531839,;SPAG5,stop_gained,p.Glu31Ter,ENST00000580083,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,upstream_gene_variant,,ENST00000577259,;SPAG5,upstream_gene_variant,,ENST00000578230,;SPAG5,upstream_gene_variant,,ENST00000378976,;	2029	179	64	SUCCESS
EVI2B	2124	.	GRCh37	17	29632211	29632211	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	252	19	573	0	ENST00000330927.4:c.417A>G	p.Pro139=	p.P139=	ENST00000330927	NM_006495.3	139	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS11266.1	417	MUTECT|MUSE	.	GACTTTGGTGG	NONE	.	.	hmmpanther:PTHR15384	.	.	ENSP00000333779	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330927	Transcript	.	.	ENSG00000185862	3500	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EVI2B_HUMAN	EVI2B	HGNC	.	.	UPI00001AFD5F	SNV	EVI2B,synonymous_variant,p.%3D,ENST00000330927,;EVI2B,synonymous_variant,p.%3D,ENST00000544462,;EVI2B,synonymous_variant,p.%3D,ENST00000577894,;NF1,intron_variant,,ENST00000358273,;NF1,intron_variant,,ENST00000456735,;NF1,intron_variant,,ENST00000356175,;CTD-2370N5.3,downstream_gene_variant,,ENST00000578584,;CTD-2370N5.3,downstream_gene_variant,,ENST00000584948,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;CTD-2370N5.3,downstream_gene_variant,,ENST00000581884,;CTD-2370N5.3,downstream_gene_variant,,ENST00000578021,;	572	573	271	SUCCESS
GOSR2	9570	.	GRCh37	17	45000561	45000561	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	185	0	ENST00000393456.2:c.3G>A	p.Met1?	p.M1?	ENST00000393456	NM_004287.3	1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS11507.1	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGGATCC	NONE	.	.	hmmpanther:PTHR21230:SF1,hmmpanther:PTHR21230,PIRSF_domain:PIRSF028865	.	.	ENSP00000225567	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000225567	Transcript	.	.	ENSG00000108433	4431	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0)	.	GOSR2_HUMAN	GOSR2	HGNC	.	.	UPI000002AACF	SNV	GOSR2,start_lost,p.Met1?,ENST00000575949,;GOSR2,start_lost,p.Met1?,ENST00000415811,;GOSR2,start_lost,p.Met1?,ENST00000439730,;GOSR2,start_lost,p.Met1?,ENST00000393456,;GOSR2,start_lost,p.Met1?,ENST00000225567,;GOSR2,start_lost,p.Met1?,ENST00000576910,;GOSR2,5_prime_UTR_variant,,ENST00000572403,;GOSR2,upstream_gene_variant,,ENST00000570879,;RNU6ATAC3P,downstream_gene_variant,,ENST00000387974,;RP11-63A1.1,upstream_gene_variant,,ENST00000572349,;RP11-156P1.2,start_lost,p.Met1?,ENST00000571841,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571048,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571658,;	34	185	54	SUCCESS
MAP2K6	5608	.	GRCh37	17	67522814	67522814	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1198336138	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	38	0	ENST00000590474.1:c.845A>G	p.Lys282Arg	p.K282R	ENST00000590474	NM_002758.3	282	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11686.1	845	MUTECT|MUSE	.	AGACAAGTTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF40,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000468348	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000590474	Transcript	.	.	ENSG00000108984	6846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.75)	.	MP2K6_HUMAN	MAP2K6	HGNC	K7ELM6_HUMAN,A8K3Y2_HUMAN	.	UPI000012F492	SNV	MAP2K6,missense_variant,p.Lys226Arg,ENST00000589647,;MAP2K6,missense_variant,p.Lys282Arg,ENST00000590474,;MAP2K6,3_prime_UTR_variant,,ENST00000359094,;MAP2K6,downstream_gene_variant,,ENST00000591445,;MAP2K6,downstream_gene_variant,,ENST00000586641,;	1132	38	19	SUCCESS
AANAT	15	.	GRCh37	17	74465363	74465363	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	120	0	ENST00000392492.3:c.272T>A	p.Val91Glu	p.V91E	ENST00000392492	NM_001088.2	91	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS54169.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTGGCCT	NONE	.	.	PROSITE_profiles:PS51186,hmmpanther:PTHR10908,hmmpanther:PTHR10908:SF0,Gene3D:3.40.630.30,Pfam_domain:PF00583,Superfamily_domains:SSF55729	.	.	ENSP00000250615	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000250615	Transcript	.	.	ENSG00000129673	19	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	.	AANAT	HGNC	Q9H3T0_HUMAN,Q9GZS4_HUMAN,J3KMZ5_HUMAN,F1T0I5_HUMAN	.	UPI000153D76E	SNV	AANAT,missense_variant,p.Val136Glu,ENST00000250615,;AANAT,missense_variant,p.Val129Glu,ENST00000585649,;AANAT,missense_variant,p.Val91Glu,ENST00000392492,;RHBDF2,downstream_gene_variant,,ENST00000591885,;RHBDF2,downstream_gene_variant,,ENST00000389760,;RHBDF2,downstream_gene_variant,,ENST00000591860,;RHBDF2,downstream_gene_variant,,ENST00000313080,;AANAT,3_prime_UTR_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000589582,;	1414	120	44	SUCCESS
RNF213	57674	.	GRCh37	17	78328357	78328357	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	65	0	ENST00000582970.1:c.10843C>A	p.Gln3615Lys	p.Q3615K	ENST00000582970	NM_001256071.1	3615	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS58606.1	10843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCAGGAG	NONE	.	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	36/68	.	.	.	.	.	.	.	.	.	36/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Gln3615Lys,ENST00000582970,;RNF213,missense_variant,p.Gln1688Lys,ENST00000336301,;RNF213,missense_variant,p.Gln3664Lys,ENST00000508628,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000572151,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;RNF213,non_coding_transcript_exon_variant,,ENST00000560694,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;	10986	65	36	SUCCESS
LOXHD1	125336	.	GRCh37	18	44089715	44089715	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	164	0	ENST00000300591.6:c.2130del	p.Met711CysfsTer21	p.M711Cfs*21	ENST00000300591	NM_001145472.2	710	aaG/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS45861.1	2130	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCATCTTGGT	NONE	.	.	PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Gene3D:2.60.60.20,Pfam_domain:PF01477,Superfamily_domains:SSF49723	.	.	ENSP00000300591	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	deletion	LOXHD1,frameshift_variant,p.Met649CysfsTer21,ENST00000582408,;LOXHD1,frameshift_variant,p.Met711CysfsTer21,ENST00000300591,;LOXHD1,frameshift_variant,p.Met1616CysfsTer21,ENST00000441551,;LOXHD1,frameshift_variant,p.Met61CysfsTer21,ENST00000398705,;LOXHD1,frameshift_variant,p.Met693CysfsTer21,ENST00000441893,;LOXHD1,frameshift_variant,p.Met61CysfsTer21,ENST00000414184,;LOXHD1,frameshift_variant,p.Met615CysfsTer21,ENST00000579038,;LOXHD1,frameshift_variant,p.Met1760CysfsTer21,ENST00000536736,;LOXHD1,frameshift_variant,p.Met1544CysfsTer21,ENST00000398722,;LOXHD1,frameshift_variant,p.Met61CysfsTer21,ENST00000398686,;LOXHD1,downstream_gene_variant,,ENST00000452425,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	2544	164	53	SUCCESS
LAMA1	284217	.	GRCh37	18	7017348	7017348	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762641681	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	81	0	ENST00000389658.3:c.2737G>T	p.Val913Leu	p.V913L	ENST00000389658	NM_005559.3	913	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS32787.1	2737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACGGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000374309	.	20/63	.	.	.	.	.	.	.	.	rs762641681	20/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.09)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Val913Leu,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	2831	81	18	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38694768	38694768	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs748028255	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	40	0	ENST00000222345.6:c.5122G>A	p.Glu1708Lys	p.E1708K	ENST00000222345	NM_015073.1	1708	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33007.1	5122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGAGGAG	NONE	byFrequency	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15,Pfam_domain:PF11881	.	.	ENSP00000222345	.	21/22	.	.	.	.	.	.	.	.	rs748028255	21/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.33)	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,missense_variant,p.Glu1708Lys,ENST00000222345,;RN7SL663P,downstream_gene_variant,,ENST00000578592,;CTB-102L5.8,downstream_gene_variant,,ENST00000598146,;SIPA1L3,non_coding_transcript_exon_variant,,ENST00000596403,;	5631	40	16	SUCCESS
PSG1	5669	.	GRCh37	19	43382065	43382065	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs545006367	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	161	0	ENST00000436291.2:c.430C>T		p.X144_splice	ENST00000436291	NM_001184826.1	144	Ctg/Ttg	0	.	A:0	.	A:0	.	A	L	protein_coding	YES	CCDS12612.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACGGTGTA	NONE	by1000G	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF114,SMART_domains:SM00409	A:0	.	ENSP00000244296	A:0	2/5	.	.	.	.	.	.	.	.	rs545006367	2/5	PASS	ENST00000244296	Transcript	.	A:0.0002	ENSG00000231924	9514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	PSG1_HUMAN	PSG1	HGNC	Q9UMI0_HUMAN,M0QY44_HUMAN	.	UPI0000001071	SNV	PSG1,missense_variant,p.Pro144Ser,ENST00000595124,;PSG1,missense_variant,p.Pro144Ser,ENST00000403380,;PSG1,synonymous_variant,p.%3D,ENST00000244296,;PSG1,synonymous_variant,p.%3D,ENST00000595356,;PSG1,synonymous_variant,p.%3D,ENST00000312439,;PSG1,synonymous_variant,p.%3D,ENST00000597058,;PSG1,synonymous_variant,p.%3D,ENST00000436291,;PSG1,synonymous_variant,p.%3D,ENST00000595930,;PSG1,splice_region_variant,,ENST00000601456,;PSG1,splice_region_variant,,ENST00000601073,;	568	161	42	SUCCESS
SLC1A5	6510	.	GRCh37	19	47280545	47280545	+	synonymous_variant	Silent	SNP	G	G	A	rs1218554735	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	89	0	ENST00000542575.2:c.1176C>T	p.Leu392=	p.L392=	ENST00000542575	NM_005628.2	392	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12692.1	1176	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAGCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF19,PROSITE_patterns:PS00714,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221,Prints_domain:PR00173	.	.	ENSP00000444408	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000542575	Transcript	.	.	ENSG00000105281	10943	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AAAT_HUMAN	SLC1A5	HGNC	M0R144_HUMAN	.	UPI000012507D	SNV	SLC1A5,synonymous_variant,p.%3D,ENST00000412532,;SLC1A5,synonymous_variant,p.%3D,ENST00000542575,;SLC1A5,synonymous_variant,p.%3D,ENST00000434726,;SLC1A5,synonymous_variant,p.%3D,ENST00000594991,;SLC1A5,synonymous_variant,p.%3D,ENST00000593713,;FKRP,downstream_gene_variant,,ENST00000600646,;	1805	89	22	SUCCESS
MEIS3	56917	.	GRCh37	19	47912456	47912456	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	83	0	ENST00000558555.1:c.758A>T	p.Asp253Val	p.D253V	ENST00000558555		253	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS33064.1	758	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATCTTCT	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF71	.	.	ENSP00000453307	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000561293	Transcript	.	.	ENSG00000105419	29537	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.542)	.	deleterious(0)	.	MEIS3_HUMAN	MEIS3	HGNC	.	.	UPI000006FB11	SNV	MEIS3,missense_variant,p.Asp112Val,ENST00000559338,;MEIS3,missense_variant,p.Asp236Val,ENST00000441740,;MEIS3,missense_variant,p.Asp128Val,ENST00000560245,;MEIS3,missense_variant,p.Asp341Val,ENST00000561096,;MEIS3,missense_variant,p.Asp253Val,ENST00000561293,;MEIS3,missense_variant,p.Asp253Val,ENST00000558555,;MEIS3,missense_variant,p.Asp236Val,ENST00000331559,;MEIS3,missense_variant,p.Asp253Val,ENST00000559524,;MEIS3,upstream_gene_variant,,ENST00000607695,;MEIS3,non_coding_transcript_exon_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;	965	83	16	SUCCESS
MEIS3	56917	.	GRCh37	19	47912457	47912457	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	83	0	ENST00000558555.1:c.757G>C	p.Asp253His	p.D253H	ENST00000558555		253	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS33064.1	757	RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCTTCTC	NONE	.	.	hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF71	.	.	ENSP00000453307	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000561293	Transcript	.	.	ENSG00000105419	29537	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	MEIS3_HUMAN	MEIS3	HGNC	.	.	UPI000006FB11	SNV	MEIS3,missense_variant,p.Asp112His,ENST00000559338,;MEIS3,missense_variant,p.Asp236His,ENST00000441740,;MEIS3,missense_variant,p.Asp128His,ENST00000560245,;MEIS3,missense_variant,p.Asp341His,ENST00000561096,;MEIS3,missense_variant,p.Asp253His,ENST00000561293,;MEIS3,missense_variant,p.Asp253His,ENST00000558555,;MEIS3,missense_variant,p.Asp236His,ENST00000331559,;MEIS3,missense_variant,p.Asp253His,ENST00000559524,;MEIS3,upstream_gene_variant,,ENST00000607695,;MEIS3,non_coding_transcript_exon_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;	964	83	17	SUCCESS
GLTSCR1	0	.	GRCh37	19	48204844	48204844	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	56	0	ENST00000396720.3:c.3855G>A	p.Glu1285=	p.E1285=	ENST00000396720	NM_015711.3	1285	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS46134.1	3855	MUTECT|MUSE	.	GACGAGGACGG	NONE	.	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572	.	.	ENSP00000379946	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,non_coding_transcript_exon_variant,,ENST00000602258,;	4049	56	11	SUCCESS
ZNF667	63934	.	GRCh37	19	56952618	56952618	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	85	0	ENST00000292069.6:c.1746C>T	p.Pro582=	p.P582=	ENST00000292069	NM_022103.3	582	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12944.1	1746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATAGGGTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000439402	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000504904	Transcript	.	.	ENSG00000198046	28854	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN667_HUMAN	ZNF667	HGNC	K7ERY5_HUMAN,K7EIE0_HUMAN	.	UPI0000202CEE	SNV	ZNF667,synonymous_variant,p.%3D,ENST00000342634,;ZNF667,synonymous_variant,p.%3D,ENST00000292069,;ZNF667,synonymous_variant,p.%3D,ENST00000504904,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;	2466	85	26	SUCCESS
AZU1	566	.	GRCh37	19	830863	830863	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	46	0	ENST00000233997.2:c.516G>T	p.Val172=	p.V172=	ENST00000233997	NM_001700.3	172	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12044.1	516	MUTECT|MUSE	.	AACGTGACTGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF10,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000233997	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000233997	Transcript	.	.	ENSG00000172232	913	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAP7_HUMAN	AZU1	HGNC	.	.	UPI0000126ECD	SNV	AZU1,synonymous_variant,p.%3D,ENST00000233997,;AZU1,non_coding_transcript_exon_variant,,ENST00000592205,;	537	46	13	SUCCESS
LRRC39	127495	.	GRCh37	1	100623869	100623869	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	138	0	ENST00000342895.3:c.431T>A	p.Val144Asp	p.V144D	ENST00000342895	NM_001256387.1	144	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS58014.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGACAGTC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF422,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000359157	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000370138	Transcript	.	.	ENSG00000122477	28228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0)	.	LRC39_HUMAN	LRRC39	HGNC	.	.	UPI00002053BB	SNV	LRRC39,missense_variant,p.Val144Asp,ENST00000342895,;LRRC39,missense_variant,p.Val144Asp,ENST00000370137,;LRRC39,missense_variant,p.Val144Asp,ENST00000370138,;	630	138	34	SUCCESS
MTOR	2475	.	GRCh37	1	11316988	11316988	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	71	0	ENST00000361445.4:c.504+2T>A		p.X168_splice	ENST00000361445	NM_004958.3	168		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS127.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCACAGCT	NONE	.	.	.	.	.	ENSP00000354558	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	HIGH	4/57	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,splice_donor_variant,,ENST00000361445,;	.	71	24	SUCCESS
CD5L	922	.	GRCh37	1	157805798	157805798	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779754060	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	43	226	0	ENST00000368174.4:c.203G>T	p.Gly68Val	p.G68V	ENST00000368174	NM_005894.2	68	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1171.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCCACAG	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	3/6	.	.	.	.	.	.	.	.	rs779754060	3/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,missense_variant,p.Gly68Val,ENST00000368174,;CD5L,non_coding_transcript_exon_variant,,ENST00000484609,;	300	227	71	SUCCESS
AXDND1	126859	.	GRCh37	1	179339142	179339142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	43	112	0	ENST00000367618.3:c.303G>T	p.Trp101Cys	p.W101C	ENST00000367618	NM_144696.5	101	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS30948.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGCATCA	NONE	.	.	hmmpanther:PTHR23052	.	.	ENSP00000356590	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000367618	Transcript	.	.	ENSG00000162779	26564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0)	.	AXDN1_HUMAN	AXDND1	HGNC	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	.	UPI000022AC91	SNV	AXDND1,missense_variant,p.Trp35Cys,ENST00000434088,;AXDND1,missense_variant,p.Trp101Cys,ENST00000367618,;AXDND1,missense_variant,p.Trp59Cys,ENST00000509175,;AXDND1,missense_variant,p.Trp101Cys,ENST00000508285,;AXDND1,missense_variant,p.Trp59Cys,ENST00000511889,;AXDND1,missense_variant,p.Trp59Cys,ENST00000507383,;AXDND1,missense_variant,p.Trp101Cys,ENST00000457238,;AXDND1,downstream_gene_variant,,ENST00000508229,;AXDND1,non_coding_transcript_exon_variant,,ENST00000461179,;AXDND1,non_coding_transcript_exon_variant,,ENST00000510593,;AXDND1,missense_variant,p.Trp101Cys,ENST00000511157,;	690	112	59	SUCCESS
DNAH14	127602	.	GRCh37	1	225586911	225586911	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	115	0	ENST00000445597.2:c.10464A>G	p.Lys3488=	p.K3488=	ENST00000445597		3488	aaA/aaG	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1545.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAACCTCC	NONE	.	2294	.	.	.	ENSP00000339883	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000428003,;DNAH14,synonymous_variant,p.%3D,ENST00000445597,;DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;LBR,downstream_gene_variant,,ENST00000338179,;LBR,downstream_gene_variant,,ENST00000441022,;LBR,downstream_gene_variant,,ENST00000272163,;DNAH14,downstream_gene_variant,,ENST00000327794,;	.	115	47	SUCCESS
RNF220	55182	.	GRCh37	1	45111114	45111114	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	131	0	ENST00000355387.2:c.1399A>T	p.Lys467Ter	p.K467*	ENST00000355387		467	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS510.1	1399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAAGCAG	NONE	.	.	hmmpanther:PTHR13459	.	.	ENSP00000347548	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000355387	Transcript	.	.	ENSG00000187147	25552	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN220_HUMAN	RNF220	HGNC	D3DPZ1_HUMAN	.	UPI000035895E	SNV	RNF220,stop_gained,p.Lys183Ter,ENST00000440132,;RNF220,stop_gained,p.Lys467Ter,ENST00000361799,;RNF220,stop_gained,p.Lys209Ter,ENST00000335497,;RNF220,stop_gained,p.Lys254Ter,ENST00000443020,;RNF220,stop_gained,p.Lys467Ter,ENST00000355387,;RNF220,stop_gained,p.Lys467Ter,ENST00000372247,;TMEM53,stop_gained,p.Leu159Ter,ENST00000372242,;TMEM53,stop_gained,p.Leu69Ter,ENST00000372243,;TMEM53,synonymous_variant,p.%3D,ENST00000372244,;RNF220,non_coding_transcript_exon_variant,,ENST00000474394,;RNF220,non_coding_transcript_exon_variant,,ENST00000484745,;RNF220,non_coding_transcript_exon_variant,,ENST00000480686,;RNF220,non_coding_transcript_exon_variant,,ENST00000474064,;RNF220,non_coding_transcript_exon_variant,,ENST00000475378,;TMEM53,intron_variant,,ENST00000495630,;RNF220,upstream_gene_variant,,ENST00000474956,;RNF220,downstream_gene_variant,,ENST00000497469,;RNF220,downstream_gene_variant,,ENST00000471494,;	1849	131	26	SUCCESS
DOCK7	85440	.	GRCh37	1	62971484	62971484	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746518826	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	64	0	ENST00000340370.5:c.4387G>A	p.Val1463Ile	p.V1463I	ENST00000340370	NM_033407.3	1463	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS30734.1	4387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACGGTCT	NONE	byFrequency	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	35/49	.	.	.	.	.	.	.	.	rs746518826	35/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.1)	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,missense_variant,p.Val1485Ile,ENST00000251157,;DOCK7,missense_variant,p.Val1463Ile,ENST00000340370,;DOCK7,missense_variant,p.Val657Ile,ENST00000454575,;	4405	64	18	SUCCESS
DNAJB4	11080	.	GRCh37	1	78481825	78481825	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	84	0	ENST00000370763.5:c.908A>G	p.Asn303Ser	p.N303S	ENST00000370763	NM_007034.3	303	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS684.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAATCCTG	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223,Pfam_domain:PF01556,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	.	.	ENSP00000359799	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370763	Transcript	.	.	ENSG00000162616	14886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.48)	.	DNJB4_HUMAN	DNAJB4	HGNC	C9JUL4_HUMAN,B4DNN2_HUMAN	.	UPI000000164F	SNV	DNAJB4,missense_variant,p.Asn303Ser,ENST00000370763,;DNAJB4,downstream_gene_variant,,ENST00000426517,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000476396,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000487931,;GIPC2,intron_variant,,ENST00000476882,;DNAJB4,downstream_gene_variant,,ENST00000484662,;DNAJB4,downstream_gene_variant,,ENST00000477671,;	1165	84	37	SUCCESS
LPHN2	0	.	GRCh37	1	82409304	82409304	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139129579	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	149	0	ENST00000370717.2:c.1049G>A	p.Arg350Gln	p.R350Q	ENST00000370717		350	cGa/cAa	0	A:0.0007	.	.	.	.	A	R/Q	protein_coding	YES	CCDS689.1	1049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCGAGGAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51132,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF02191,SMART_domains:SM00284	.	A:0	ENSP00000322270	.	5/20	.	.	.	.	.	.	.	.	rs139129579	5/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.75)	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,missense_variant,p.Arg350Gln,ENST00000370730,;LPHN2,missense_variant,p.Arg350Gln,ENST00000335786,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370713,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370717,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370727,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370725,;LPHN2,missense_variant,p.Arg350Gln,ENST00000319517,;LPHN2,missense_variant,p.Arg350Gln,ENST00000271029,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370728,;LPHN2,missense_variant,p.Arg350Gln,ENST00000359929,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370715,;LPHN2,missense_variant,p.Arg350Gln,ENST00000370723,;LPHN2,missense_variant,p.Arg354Gln,ENST00000370721,;LPHN2,missense_variant,p.Arg350Gln,ENST00000394879,;LPHN2,missense_variant,p.Arg218Gln,ENST00000449420,;LPHN2,intron_variant,,ENST00000469377,;	1265	149	26	SUCCESS
NSFL1C	55968	.	GRCh37	20	1433676	1433676	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	64	0	ENST00000216879.4:c.647G>T	p.Gly216Val	p.G216V	ENST00000216879	NM_016143.4	216	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS56175.1	653	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCCTCTG	NONE	.	.	PROSITE_profiles:PS51399,hmmpanther:PTHR23333:SF24,hmmpanther:PTHR23333,Pfam_domain:PF08059,SMART_domains:SM00553,Superfamily_domains:SSF102848	.	.	ENSP00000418529	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000476071	Transcript	.	.	ENSG00000088833	15912	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	NSF1C_HUMAN	NSFL1C	HGNC	G3V4V8_HUMAN	.	UPI0000232DEC	SNV	NSFL1C,missense_variant,p.Gly185Val,ENST00000353088,;NSFL1C,missense_variant,p.Gly218Val,ENST00000350991,;NSFL1C,missense_variant,p.Gly105Val,ENST00000381658,;NSFL1C,missense_variant,p.Gly216Val,ENST00000216879,;NSFL1C,missense_variant,p.Gly218Val,ENST00000476071,;NSFL1C,splice_region_variant,,ENST00000461211,;NSFL1C,downstream_gene_variant,,ENST00000553571,;NSFL1C,missense_variant,p.Gly216Val,ENST00000381653,;NSFL1C,splice_region_variant,,ENST00000470376,;NSFL1C,splice_region_variant,,ENST00000555944,;NSFL1C,splice_region_variant,,ENST00000555568,;NSFL1C,downstream_gene_variant,,ENST00000489203,;NSFL1C,downstream_gene_variant,,ENST00000487086,;NSFL1C,downstream_gene_variant,,ENST00000555359,;	747	64	36	SUCCESS
PCED1A	64773	.	GRCh37	20	2819099	2819099	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747580090	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	73	0	ENST00000360652.2:c.620G>T	p.Arg207Leu	p.R207L	ENST00000360652	NM_022760.4	207	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS13035.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCGCAGG	NONE	.	.	hmmpanther:PTHR14469:SF3,hmmpanther:PTHR14469,Pfam_domain:PF13839,Gene3D:3.40.50.1110,Superfamily_domains:SSF52266	.	.	ENSP00000353868	.	6/8	.	.	.	.	.	.	.	.	rs747580090	6/8	PASS	ENST00000360652	Transcript	.	.	ENSG00000132635	16212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.564)	.	deleterious(0.02)	.	PED1A_HUMAN	PCED1A	HGNC	.	.	UPI00001285EE	SNV	PCED1A,missense_variant,p.Arg207Leu,ENST00000439542,;PCED1A,missense_variant,p.Arg207Leu,ENST00000360652,;PCED1A,missense_variant,p.Arg156Leu,ENST00000448755,;PCED1A,missense_variant,p.Arg156Leu,ENST00000356872,;VPS16,upstream_gene_variant,,ENST00000417508,;PCED1A,upstream_gene_variant,,ENST00000474714,;VPS16,upstream_gene_variant,,ENST00000380469,;VPS16,upstream_gene_variant,,ENST00000453689,;VPS16,upstream_gene_variant,,ENST00000380445,;PCED1A,intron_variant,,ENST00000487501,;	1123	73	20	SUCCESS
WISP2	0	.	GRCh37	20	43344036	43344036	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	42	0	ENST00000372868.2:c.5G>A	p.Arg2Lys	p.R2K	ENST00000372868		2	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS13336.1	5	MUTECT|MUSE	.	CATGAGAGGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF16	.	.	ENSP00000361959	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000372868	Transcript	.	.	ENSG00000064205	12770	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.251)	.	tolerated(0.06)	.	WISP2_HUMAN	WISP2	HGNC	.	.	UPI0000037219	SNV	WISP2,missense_variant,p.Arg2Lys,ENST00000190983,;WISP2,missense_variant,p.Arg2Lys,ENST00000372865,;WISP2,missense_variant,p.Arg2Lys,ENST00000372868,;RP11-445H22.4,intron_variant,,ENST00000445420,;RP11-445H22.4,intron_variant,,ENST00000427303,;RP11-445H22.4,intron_variant,,ENST00000427598,;WISP2,non_coding_transcript_exon_variant,,ENST00000497421,;WISP2,upstream_gene_variant,,ENST00000465000,;	348	42	11	SUCCESS
SLC2A10	81031	.	GRCh37	20	45354541	45354541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	110	0	ENST00000359271.2:c.866G>A	p.Gly289Glu	p.G289E	ENST00000359271	NM_030777.3	289	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS13402.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGGCTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF93,hmmpanther:PTHR24063,PROSITE_patterns:PS00216,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000352216	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000359271	Transcript	1	.	ENSG00000197496	13444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.29)	.	tolerated(0.28)	.	GTR10_HUMAN	SLC2A10	HGNC	Q8TDC7_HUMAN	.	UPI000012BC8D	SNV	SLC2A10,missense_variant,p.Gly289Glu,ENST00000359271,;	1116	110	21	SUCCESS
COL9A3	1299	.	GRCh37	20	61470062	61470062	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	248	0	ENST00000343916.3:c.1813G>A	p.Gly605Ser	p.G605S	ENST00000343916	NM_001853.3	605	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS13505.1	1813	MUTECT|MUSE	.	ACAAAGGCGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF364,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000341640	.	31/32	.	.	.	.	.	.	.	.	.	31/32	PASS	ENST00000343916	Transcript	1	.	ENSG00000092758	2219	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CO9A3_HUMAN	COL9A3	HGNC	Q96IF4_HUMAN	.	UPI0000126D51	SNV	COL9A3,missense_variant,p.Gly605Ser,ENST00000343916,;TCFL5,downstream_gene_variant,,ENST00000335351,;COL9A3,non_coding_transcript_exon_variant,,ENST00000466532,;COL9A3,non_coding_transcript_exon_variant,,ENST00000467819,;COL9A3,non_coding_transcript_exon_variant,,ENST00000462700,;COL9A3,non_coding_transcript_exon_variant,,ENST00000466192,;COL9A3,downstream_gene_variant,,ENST00000472880,;COL9A3,downstream_gene_variant,,ENST00000481800,;COL9A3,downstream_gene_variant,,ENST00000469802,;COL9A3,downstream_gene_variant,,ENST00000469852,;COL9A3,downstream_gene_variant,,ENST00000490398,;	1816	248	80	SUCCESS
PAK7	0	.	GRCh37	20	9546904	9546904	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	50	0	ENST00000353224.5:c.1118A>T	p.Tyr373Phe	p.Y373F	ENST00000353224	NM_177990.2	373	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS13107.1	1118	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGTACTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.133)	.	tolerated(0.57)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Tyr373Phe,ENST00000378423,;PAK7,missense_variant,p.Tyr373Phe,ENST00000378429,;PAK7,missense_variant,p.Tyr373Phe,ENST00000353224,;	1665	50	18	SUCCESS
TUBA3FP	113691	.	GRCh37	22	21363434	21363434	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs574351355	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	141	0	ENST00000422086.1:n.1022G>A		p.*341*	ENST00000422086				0	.	T:0.0015	.	T:0	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACGACTG	NONE	byFrequency|by1000G	2698	.	T:0	.	ENSP00000446823	T:0	.	.	.	.	.	.	.	.	.	rs574351355	.	PASS	ENST00000547793	Transcript	.	T:0.0004	ENSG00000269103	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	AC002472.1	Clone_based_ensembl_gene	H0YHC8_HUMAN	.	UPI00015DF7A3	SNV	AC002472.1,upstream_gene_variant,,ENST00000547793,;THAP7-AS1,non_coding_transcript_exon_variant,,ENST00000452284,;THAP7-AS1,intron_variant,,ENST00000436079,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000292748,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000422086,;P2RX6,upstream_gene_variant,,ENST00000591411,;TUBA3FP,non_coding_transcript_exon_variant,,ENST00000442739,;	.	141	33	SUCCESS
ZNF70	7621	.	GRCh37	22	24086004	24086004	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	19	152	0	ENST00000341976.3:c.1324T>A	p.Ser442Thr	p.S442T	ENST00000341976	NM_021916.2	442	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS13812.1	1324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAATGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF82,Gene3D:3.30.160.60	.	.	ENSP00000339314	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341976	Transcript	.	.	ENSG00000187792	13140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZNF70_HUMAN	ZNF70	HGNC	.	.	UPI0000001C98	SNV	ZNF70,missense_variant,p.Ser442Thr,ENST00000341976,;LL22NC03-N27C7.1,upstream_gene_variant,,ENST00000602816,;	1785	152	35	SUCCESS
SCUBE1	80274	.	GRCh37	22	43634786	43634786	+	intron_variant	Intron	SNP	G	G	C	rs778006761	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	197	0	ENST00000360835.4:c.844+58C>G		p.*282*	ENST00000360835	NM_173050.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14048.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGGAGGC	NONE	.	.	.	.	.	ENSP00000354080	.	.	.	.	.	.	.	.	.	.	rs778006761,COSM1616529	.	PASS	ENST00000360835	Transcript	.	.	ENSG00000159307	13441	.	.	MODIFIER	7/21	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SCUB1_HUMAN	SCUBE1	HGNC	.	.	UPI000020790F	SNV	SCUBE1,missense_variant,p.Pro331Arg,ENST00000290460,;SCUBE1,intron_variant,,ENST00000360835,;SCUBE1,intron_variant,,ENST00000449304,;Z82214.2,non_coding_transcript_exon_variant,,ENST00000419643,;	.	197	46	SUCCESS
LRP2	4036	.	GRCh37	2	170147487	170147487	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	165	0	ENST00000263816.3:c.790C>T	p.His264Tyr	p.H264Y	ENST00000263816	NM_004525.2	264	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS2232.1	790	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATGAACAT	BUFFER|p.V263V|c.789T>C|3	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:4.10.400.10,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	8/79	.	.	.	.	.	.	.	.	.	8/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.His264Tyr,ENST00000263816,;LRP2,missense_variant,p.His264Tyr,ENST00000443831,;	1076	165	45	SUCCESS
MFSD6	54842	.	GRCh37	2	191301480	191301501	+	frameshift_variant	Frame_Shift_Del	DEL	TGAACTCAAGCACAGCAACCCC	TGAACTCAAGCACAGCAACCCC	-	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	TGAACTCAAGCACAGCAACCCC	TGAACTCAAGCACAGCAACCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	187	0	ENST00000281416.7:c.727_748del	p.Asn243SerfsTer6	p.N243Sfs*6	ENST00000281416		242	tTGAACTCAAGCACAGCAACCCCt/tt	0	.	.	.	.	.	-	LNSSTATP/X	protein_coding	YES	CCDS2306.1	725-746	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACTTTGAACTCAAGCACAGCAACCCCTGTCT	NONE	.	.	hmmpanther:PTHR16172:SF2,hmmpanther:PTHR16172	.	.	ENSP00000376141	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000392328	Transcript	.	.	ENSG00000151690	24711	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MFSD6_HUMAN	MFSD6	HGNC	C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN	.	UPI000022BD91	deletion	MFSD6,frameshift_variant,p.Asn243SerfsTer6,ENST00000281416,;MFSD6,frameshift_variant,p.Asn243SerfsTer6,ENST00000392328,;MFSD6,upstream_gene_variant,,ENST00000434582,;MFSD6,downstream_gene_variant,,ENST00000417958,;MFSD6,downstream_gene_variant,,ENST00000432036,;MFSD6,downstream_gene_variant,,ENST00000445546,;	1049-1070	187	27	SUCCESS
DNAH7	56171	.	GRCh37	2	196729549	196729549	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	176	0	ENST00000312428.6:c.6830A>G	p.Lys2277Arg	p.K2277R	ENST00000312428	NM_018897.2	2277	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS42794.1	6830	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTTGGGA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	41/65	.	.	.	.	.	.	.	.	.	41/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.11)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Lys2277Arg,ENST00000312428,;	6931	176	41	SUCCESS
SMARCAL1	50485	.	GRCh37	2	217280006	217280006	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	104	0	ENST00000357276.4:c.579G>C	p.Lys193Asn	p.K193N	ENST00000357276	NM_014140.3	193	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS2403.1	579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGACAGC	NONE	.	.	hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799	.	.	ENSP00000349823	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000357276	Transcript	.	.	ENSG00000138375	11102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.39)	.	SMAL1_HUMAN	SMARCAL1	HGNC	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN	.	UPI000000DA30	SNV	SMARCAL1,missense_variant,p.Lys193Asn,ENST00000357276,;SMARCAL1,missense_variant,p.Lys193Asn,ENST00000358207,;SMARCAL1,missense_variant,p.Lys92Asn,ENST00000427645,;SMARCAL1,missense_variant,p.Lys57Asn,ENST00000392128,;SMARCAL1,downstream_gene_variant,,ENST00000425815,;SMARCAL1,downstream_gene_variant,,ENST00000434435,;SMARCAL1,upstream_gene_variant,,ENST00000412913,;SMARCAL1,downstream_gene_variant,,ENST00000444508,;SMARCAL1,downstream_gene_variant,,ENST00000430374,;AC098820.2,upstream_gene_variant,,ENST00000457694,;SMARCAL1,downstream_gene_variant,,ENST00000496037,;	909	104	32	SUCCESS
ASIC4	55515	.	GRCh37	2	220379297	220379297	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	161	0	ENST00000347842.3:c.232G>A	p.Gly78Ser	p.G78S	ENST00000347842	NM_182847.2	78	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS2442.1	232	RADIA|MUSE|VARSCANS	.	CCTCGGGCCCC	NONE	.	.	.	.	.	ENSP00000326627	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000347842	Transcript	.	.	ENSG00000072182	21263	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	deleterious_low_confidence(0)	.	ASIC4_HUMAN	ASIC4	HGNC	.	.	UPI0000456EFC	SNV	ASIC4,missense_variant,p.Gly78Ser,ENST00000358078,;ASIC4,missense_variant,p.Gly78Ser,ENST00000347842,;AC053503.11,intron_variant,,ENST00000429882,;ASIC4,upstream_gene_variant,,ENST00000473709,;ASIC4,non_coding_transcript_exon_variant,,ENST00000461395,;ASIC4,upstream_gene_variant,,ENST00000474489,;	246	161	42	SUCCESS
SPHKAP	80309	.	GRCh37	2	228883534	228883534	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs868607348	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	173	0	ENST00000392056.3:c.2036C>T	p.Ser679Phe	p.S679F	ENST00000392056	NM_001142644.1	679	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS46537.1	2036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGAATGC	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Ser679Phe,ENST00000344657,;SPHKAP,missense_variant,p.Ser679Phe,ENST00000392056,;	2083	173	56	SUCCESS
TRIP12	9320	.	GRCh37	2	230723949	230723949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	92	0	ENST00000283943.5:c.440A>T	p.Gln147Leu	p.Q147L	ENST00000283943	NM_004238.1	147	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33391.1	440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGACTC	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	3/41	.	.	.	.	.	.	.	.	.	3/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious_low_confidence(0.01)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Gln189Leu,ENST00000543084,;TRIP12,missense_variant,p.Gln189Leu,ENST00000409677,;TRIP12,missense_variant,p.Gln189Leu,ENST00000389044,;TRIP12,missense_variant,p.Gln17Leu,ENST00000453485,;TRIP12,missense_variant,p.Gln147Leu,ENST00000283943,;TRIP12,missense_variant,p.Gln189Leu,ENST00000430954,;TRIP12,missense_variant,p.Gln147Leu,ENST00000428959,;TRIP12,missense_variant,p.Gln147Leu,ENST00000435716,;TRIP12,intron_variant,,ENST00000389045,;TRIP12,downstream_gene_variant,,ENST00000343290,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;	619	92	45	SUCCESS
CAD	790	.	GRCh37	2	27460320	27460320	+	synonymous_variant	Silent	SNP	C	C	T	rs570532952	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	182	1	ENST00000264705.4:c.4470C>T	p.Ala1490=	p.A1490=	ENST00000264705	NM_004341.3	1490	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS1742.1	4470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCGCTGC	NONE	by1000G	.	hmmpanther:PTHR11405:SF5,hmmpanther:PTHR11405,Gene3D:3.20.20.140,Pfam_domain:PF13147,Superfamily_domains:SSF51556	T:0	.	ENSP00000264705	T:0	28/44	.	.	.	.	.	.	.	.	rs570532952	28/44	PASS	ENST00000264705	Transcript	.	T:0.0002	ENSG00000084774	1424	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	PYR1_HUMAN	CAD	HGNC	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN	.	UPI000013D558	SNV	CAD,synonymous_variant,p.%3D,ENST00000458503,;CAD,synonymous_variant,p.%3D,ENST00000264705,;CAD,synonymous_variant,p.%3D,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000456311,;CAD,upstream_gene_variant,,ENST00000428460,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,downstream_gene_variant,,ENST00000479002,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,upstream_gene_variant,,ENST00000487239,;	4632	184	52	SUCCESS
PLB1	151056	.	GRCh37	2	28812636	28812636	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs778270117	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	49	0	ENST00000327757.5:c.2015T>C	p.Met672Thr	p.M672T	ENST00000327757	NM_153021.4	672	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS33168.1	2015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATATGGTAA	NONE	.	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1,Gene3D:3.40.50.1110,Superfamily_domains:SSF52266	.	.	ENSP00000330442	.	28/58	.	.	.	.	.	.	.	.	rs778270117	28/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,missense_variant,p.Met672Thr,ENST00000327757,;PLB1,missense_variant,p.Met661Thr,ENST00000422425,;PLB1,missense_variant,p.Met382Thr,ENST00000436544,;PLB1,missense_variant,p.Met360Thr,ENST00000329020,;PLB1,missense_variant,p.Met660Thr,ENST00000404858,;PLB1,splice_region_variant,,ENST00000481449,;	2059	49	20	SUCCESS
BIRC6	57448	.	GRCh37	2	32724674	32724674	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	81	0	ENST00000421745.2:c.8529T>A	p.Thr2843=	p.T2843=	ENST00000421745	NM_016252.3	2843	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33175.2	8529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTCTGGA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	46/74	.	.	.	.	.	.	.	.	.	46/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,synonymous_variant,p.%3D,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000497023,;	8663	81	23	SUCCESS
BIRC6	57448	.	GRCh37	2	32724675	32724675	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	81	0	ENST00000421745.2:c.8530C>T	p.Leu2844=	p.L2844=	ENST00000421745	NM_016252.3	2844	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33175.2	8530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTCTGGAG	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	46/74	.	.	.	.	.	.	.	.	COSM1614795,COSM1614794	46/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,synonymous_variant,p.%3D,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000497023,;	8664	81	22	SUCCESS
KCNK12	56660	.	GRCh37	2	47748598	47748598	+	synonymous_variant	Silent	SNP	G	G	C	rs1476644787	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	97	0	ENST00000327876.4:c.741C>G	p.Leu247=	p.L247=	ENST00000327876	NM_022055.1	247	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1835.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTAGAGCGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11003:SF11,hmmpanther:PTHR11003,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000327611	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327876	Transcript	.	.	ENSG00000184261	6274	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKC_HUMAN	KCNK12	HGNC	.	.	UPI000000DC4C	SNV	KCNK12,synonymous_variant,p.%3D,ENST00000327876,;MSH2,intron_variant,,ENST00000461394,;	1349	97	27	SUCCESS
KIDINS220	57498	.	GRCh37	2	8934018	8934018	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774334582	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	56	0	ENST00000256707.3:c.1198C>T	p.Pro400Ser	p.P400S	ENST00000256707	NM_020738.2	400	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS42650.1	1198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGCCTAT	NONE	.	.	hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000256707	.	12/30	.	.	.	.	.	.	.	.	rs774334582	12/30	PASS	ENST00000256707	Transcript	.	.	ENSG00000134313	29508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	KDIS_HUMAN	KIDINS220	HGNC	F8WAY8_HUMAN	.	UPI0000208E08	SNV	KIDINS220,missense_variant,p.Pro400Ser,ENST00000427284,;KIDINS220,missense_variant,p.Pro401Ser,ENST00000489024,;KIDINS220,missense_variant,p.Pro358Ser,ENST00000418530,;KIDINS220,missense_variant,p.Pro400Ser,ENST00000256707,;KIDINS220,missense_variant,p.Pro400Ser,ENST00000473731,;KIDINS220,missense_variant,p.Pro147Ser,ENST00000496383,;KIDINS220,missense_variant,p.Pro401Ser,ENST00000319688,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;KIDINS220,non_coding_transcript_exon_variant,,ENST00000474782,;	1380	56	20	SUCCESS
EPHB3	2049	.	GRCh37	3	184290761	184290761	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	88	0	ENST00000330394.2:c.653G>T	p.Gly218Val	p.G218V	ENST00000330394	NM_004443.3	218	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3268.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGCTTCG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,PIRSF_domain:PIRSF000666	.	.	ENSP00000332118	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	deleterious(0)	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Gly218Val,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,upstream_gene_variant,,ENST00000482987,;	1105	88	31	SUCCESS
BCL6	604	.	GRCh37	3	187447378	187447378	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	110	0	ENST00000232014.4:c.815A>T	p.Asp272Val	p.D272V	ENST00000232014	NM_001130845.1	272	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3289.1	815	RADIA|MUTECT|MUSE	.	GCATATCACTT	NONE	.	.	hmmpanther:PTHR23228:SF88,hmmpanther:PTHR23228	.	.	ENSP00000384371	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000406870	Transcript	.	.	ENSG00000113916	1001	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.432)	.	tolerated(0.21)	.	BCL6_HUMAN	BCL6	HGNC	C9JL16_HUMAN,C9JCS5_HUMAN	.	UPI000012682C	SNV	BCL6,missense_variant,p.Asp272Val,ENST00000232014,;BCL6,missense_variant,p.Asp272Val,ENST00000450123,;BCL6,missense_variant,p.Asp272Val,ENST00000406870,;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,downstream_gene_variant,,ENST00000430339,;BCL6,downstream_gene_variant,,ENST00000438077,;BCL6,downstream_gene_variant,,ENST00000480458,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;BCL6,upstream_gene_variant,,ENST00000479110,;	1182	110	33	SUCCESS
BCL6	604	.	GRCh37	3	187447392	187447392	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	110	0	ENST00000232014.4:c.801A>G	p.Glu267=	p.E267=	ENST00000232014	NM_001130845.1	267	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS3289.1	801	RADIA|MUTECT|MUSE	.	GCCTCTTCTGG	NONE	.	.	hmmpanther:PTHR23228:SF88,hmmpanther:PTHR23228	.	.	ENSP00000384371	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000406870	Transcript	.	.	ENSG00000113916	1001	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BCL6_HUMAN	BCL6	HGNC	C9JL16_HUMAN,C9JCS5_HUMAN	.	UPI000012682C	SNV	BCL6,synonymous_variant,p.%3D,ENST00000232014,;BCL6,synonymous_variant,p.%3D,ENST00000450123,;BCL6,synonymous_variant,p.%3D,ENST00000406870,;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,downstream_gene_variant,,ENST00000430339,;BCL6,downstream_gene_variant,,ENST00000438077,;BCL6,downstream_gene_variant,,ENST00000480458,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;BCL6,upstream_gene_variant,,ENST00000479110,;	1168	110	37	SUCCESS
ATP13A4	84239	.	GRCh37	3	193174846	193174846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	154	0	ENST00000342695.4:c.1858C>A	p.Leu620Met	p.L620M	ENST00000342695	NM_032279.2	620	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS3304.2	1858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGTCGGT	NONE	.	.	hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF81660	.	.	ENSP00000339182	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(1)	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Leu601Met,ENST00000392443,;ATP13A4,missense_variant,p.Leu620Met,ENST00000342695,;ATP13A4,downstream_gene_variant,,ENST00000295548,;ATP13A4,missense_variant,p.Leu260Met,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;	2181	154	57	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	295	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	296	94	SUCCESS
DAG1	1605	.	GRCh37	3	49569129	49569129	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	135	0	ENST00000308775.2:c.1185C>T	p.Thr395=	p.T395=	ENST00000308775	NM_001177639.2	395	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2799.1	1185	RADIA|MUSE	.	GGCACCACAGT	BUFFER|p.P398S|c.1192C>T|3	.	.	hmmpanther:PTHR21559	.	.	ENSP00000442600	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000545947	Transcript	.	.	ENSG00000173402	2666	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAG1_HUMAN	DAG1	HGNC	C9JYS1_HUMAN,C9JY76_HUMAN,C9JQL4_HUMAN,C9JEN1_HUMAN,C9JEH2_HUMAN,C9J6Z6_HUMAN,C9J196_HUMAN	.	UPI000013EDAE	SNV	DAG1,synonymous_variant,p.%3D,ENST00000308775,;DAG1,synonymous_variant,p.%3D,ENST00000545947,;DAG1,synonymous_variant,p.%3D,ENST00000539901,;DAG1,synonymous_variant,p.%3D,ENST00000515359,;DAG1,synonymous_variant,p.%3D,ENST00000541308,;DAG1,synonymous_variant,p.%3D,ENST00000538711,;DAG1,downstream_gene_variant,,ENST00000431960,;DAG1,downstream_gene_variant,,ENST00000421560,;DAG1,downstream_gene_variant,,ENST00000461492,;DAG1,downstream_gene_variant,,ENST00000479935,;	1907	135	41	SUCCESS
POC1A	25886	.	GRCh37	3	52179895	52179895	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139462706	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	50	0	ENST00000296484.2:c.646G>A	p.Val216Met	p.V216M	ENST00000296484	NM_015426.4	216	Gtg/Atg	0	T:0.0007	.	.	.	.	T	V/M	protein_coding	YES	CCDS2846.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACGTCCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF319,hmmpanther:PTHR22847,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	T:0	ENSP00000296484	.	6/11	.	.	.	.	.	.	.	.	rs139462706,COSM1424343	6/11	PASS	ENST00000296484	Transcript	.	.	ENSG00000164087	24488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.433)	.	deleterious(0)	0,1	POC1A_HUMAN	POC1A	HGNC	B2RDV4_HUMAN	.	UPI000045711C	SNV	POC1A,missense_variant,p.Val216Met,ENST00000394970,;POC1A,missense_variant,p.Val216Met,ENST00000296484,;POC1A,missense_variant,p.Val178Met,ENST00000474012,;	686	50	31	SUCCESS
DNAH1	25981	.	GRCh37	3	52428551	52428551	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	207	0	ENST00000420323.2:c.10697T>C	p.Leu3566Pro	p.L3566P	ENST00000420323	NM_015512.4	3566	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS46842.1	10697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTGTCAG	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	67/78	.	.	.	.	.	.	.	.	.	67/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Leu3566Pro,ENST00000420323,;DNAH1,downstream_gene_variant,,ENST00000480649,;DNAH1,missense_variant,p.Leu466Pro,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000487254,;	10958	207	76	SUCCESS
ALB	213	.	GRCh37	4	74284003	74284003	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	72	1	ENST00000295897.4:c.1627A>G	p.Lys543Glu	p.K543E	ENST00000295897	NM_000477.5	543	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3555.1	1627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGAAGGAG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Lys543Glu,ENST00000509063,;ALB,missense_variant,p.Lys388Glu,ENST00000511370,;ALB,missense_variant,p.Lys351Glu,ENST00000415165,;ALB,missense_variant,p.Lys543Glu,ENST00000295897,;ALB,missense_variant,p.Lys393Glu,ENST00000503124,;ALB,missense_variant,p.Lys428Glu,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1716	73	19	SUCCESS
WNT8A	7478	.	GRCh37	5	137426639	137426639	+	synonymous_variant	Silent	SNP	C	C	T	rs751921975	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	23	110	0	ENST00000398754.1:c.933C>T	p.Ser311=	p.S311=	ENST00000398754	NM_058244.2	311	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43368.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCTGTAA	NONE	.	.	hmmpanther:PTHR12027:SF92,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000381739	.	6/6	.	.	.	.	.	.	.	.	rs751921975	6/6	PASS	ENST00000398754	Transcript	.	.	ENSG00000061492	12788	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNT8A_HUMAN	WNT8A	HGNC	.	.	UPI00000443FE	SNV	WNT8A,synonymous_variant,p.%3D,ENST00000504809,;WNT8A,synonymous_variant,p.%3D,ENST00000398754,;WNT8A,synonymous_variant,p.%3D,ENST00000506684,;WNT8A,synonymous_variant,p.%3D,ENST00000361560,;	938	110	43	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215321	140215321	+	synonymous_variant	Silent	SNP	C	C	T	rs781957990	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	46	334	0	ENST00000525929.1:c.1353C>T	p.Asn451=	p.N451=	ENST00000525929	NM_018910.2	451	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS54918.1	1353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAACGCCCC	CODON|p.A452T|c.1354G>A|3,CODON|p.A452T|c.1354G>A|3	byFrequency	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	rs781957990	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,synonymous_variant,p.%3D,ENST00000378125,;PCDHA7,synonymous_variant,p.%3D,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1353	334	94	SUCCESS
ECT2L	345930	.	GRCh37	6	139202242	139202242	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368116476	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	94	0	ENST00000367682.2:c.1814C>T	p.Ala605Val	p.A605V	ENST00000367682	NM_001077706.2	605	gCg/gTg	0	G:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS43508.1	1814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCGATTC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Gene3D:1.20.900.10,Pfam_domain:PF00621,hmmpanther:PTHR12673:SF70,hmmpanther:PTHR12673,PROSITE_profiles:PS50010	.	G:0.0001	ENSP00000387388	.	14/21	.	.	.	.	.	.	.	.	rs368116476	14/21	PASS	ENST00000423192	Transcript	.	.	ENSG00000203734	21118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ECT2L_HUMAN	ECT2L	HGNC	B7ZBI6_HUMAN	.	UPI0000E86804	SNV	ECT2L,missense_variant,p.Ala605Val,ENST00000367682,;ECT2L,missense_variant,p.Ala536Val,ENST00000541398,;ECT2L,missense_variant,p.Ala605Val,ENST00000423192,;RP3-509I19.6,upstream_gene_variant,,ENST00000572284,;RP3-509I19.6,upstream_gene_variant,,ENST00000404494,;	1975	94	53	SUCCESS
NOX3	50508	.	GRCh37	6	155776225	155776225	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773061285	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	45	172	0	ENST00000159060.2:c.87C>A	p.Asp29Glu	p.D29E	ENST00000159060	NM_015718.2	29	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5250.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTGTCAAT	NONE	.	.	hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972	.	.	ENSP00000159060	.	2/14	.	.	.	.	.	.	.	.	rs773061285	2/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.27)	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,missense_variant,p.Asp29Glu,ENST00000159060,;	190	172	89	SUCCESS
HIST1H2BK	0	.	GRCh37	6	27114511	27114511	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758848454	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	34	178	0	ENST00000396891.4:c.67C>A	p.Gln23Lys	p.Q23K	ENST00000396891	NM_080593.2	23	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS4621.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	.	.	ENSP00000380100	.	1/2	.	.	.	.	.	.	.	.	rs758848454	1/2	PASS	ENST00000396891	Transcript	.	.	ENSG00000197903	13954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	H2B1K_HUMAN	HIST1H2BK	HGNC	.	.	UPI0000073CF8	SNV	HIST1H2BK,missense_variant,p.Gln23Lys,ENST00000356950,;HIST1H2BK,missense_variant,p.Gln23Lys,ENST00000396891,;HIST1H2AH,upstream_gene_variant,,ENST00000377459,;MIR3143,upstream_gene_variant,,ENST00000584253,;	109	178	71	SUCCESS
HLA-L	3139	.	GRCh37	6	30231208	30231208	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	60	0	ENST00000463348.1:n.1067A>G		p.*356*	ENST00000463348				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	RADIA|MUSE|VARSCANS	.	AAGAGATGAAT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453558	Transcript	.	.	ENSG00000270604	31339	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HCG17	HGNC	.	.	.	SNV	HCG17,intron_variant,,ENST00000453558,;HLA-L,non_coding_transcript_exon_variant,,ENST00000463348,;HLA-L,intron_variant,,ENST00000482052,;HLA-L,downstream_gene_variant,,ENST00000420110,;	.	60	30	SUCCESS
TNF	7124	.	GRCh37	6	31544935	31544935	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747115001	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	58	0	ENST00000449264.2:c.323G>A	p.Arg108Gln	p.R108Q	ENST00000449264	NM_000594.3	108	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS4702.1	323	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGGGCCA	NONE	byFrequency	.	PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF23,Pfam_domain:PF00229,Gene3D:2.60.120.40,SMART_domains:SM00207,Superfamily_domains:SSF49842,Prints_domain:PR01234	.	.	ENSP00000398698	.	4/4	.	.	.	.	.	.	.	.	rs747115001	4/4	PASS	ENST00000449264	Transcript	.	.	ENSG00000232810	11892	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.29)	.	TNFA_HUMAN	TNF	HGNC	Q5STB3_HUMAN,C1K3N5_HUMAN,B5BUQ6_HUMAN	.	UPI000000D745	SNV	TNF,missense_variant,p.Arg108Gln,ENST00000449264,;LTA,downstream_gene_variant,,ENST00000418386,;LTA,downstream_gene_variant,,ENST00000454783,;LTB,downstream_gene_variant,,ENST00000446745,;LTB,downstream_gene_variant,,ENST00000429299,;LTB,downstream_gene_variant,,ENST00000483972,;LTA,downstream_gene_variant,,ENST00000489638,;LTA,downstream_gene_variant,,ENST00000471842,;LTB,downstream_gene_variant,,ENST00000482429,;	498	58	22	SUCCESS
TAP1	6890	.	GRCh37	6	32816536	32816536	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1392845171	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	82	0	ENST00000354258.4:c.1639C>T	p.Arg547Cys	p.R547C	ENST00000354258	NM_000593.5	547	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4758.1	1639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGAGGGG	NONE	.	.	hmmpanther:PTHR24221:SF3,hmmpanther:PTHR24221,TIGRFAM_domain:TIGR00958,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000346206	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000354258	Transcript	.	.	ENSG00000168394	43	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.18)	.	TAP1_HUMAN	TAP1	HGNC	Q9UEE1_HUMAN,Q69DM1_HUMAN,Q53WZ1_HUMAN,F5H648_HUMAN	.	UPI000002D4E6	SNV	TAP1,missense_variant,p.Arg547Cys,ENST00000354258,;TAP1,missense_variant,p.Arg286Cys,ENST00000425148,;PSMB9,intron_variant,,ENST00000395330,;PSMB9,intron_variant,,ENST00000414474,;PSMB8,upstream_gene_variant,,ENST00000374881,;PSMB8,upstream_gene_variant,,ENST00000395339,;PSMB8,upstream_gene_variant,,ENST00000374882,;TAPSAR1,downstream_gene_variant,,ENST00000412095,;TAPSAR1,downstream_gene_variant,,ENST00000458296,;TAPSAR1,downstream_gene_variant,,ENST00000415067,;TAPSAR1,downstream_gene_variant,,ENST00000413039,;TAPSAR1,downstream_gene_variant,,ENST00000453426,;TAPSAR1,downstream_gene_variant,,ENST00000429600,;TAP1,non_coding_transcript_exon_variant,,ENST00000486332,;TAP1,upstream_gene_variant,,ENST00000487296,;PSMB8,upstream_gene_variant,,ENST00000484003,;	1801	82	32	SUCCESS
KCNK5	8645	.	GRCh37	6	39159107	39159107	+	synonymous_variant	Silent	SNP	G	G	T	rs146316205	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	83	0	ENST00000359534.3:c.1059C>A	p.Pro353=	p.P353=	ENST00000359534	NM_003740.3	353	ccC/ccA	0	A:0.0002	.	.	.	.	T	P	protein_coding	YES	CCDS4841.1	1059	RADIA|MUSE	.	AAGGTGGGCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22	.	A:0.0001	ENSP00000352527	.	5/5	.	.	.	.	.	.	.	.	rs146316205	5/5	PASS	ENST00000359534	Transcript	.	.	ENSG00000164626	6280	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNK5_HUMAN	KCNK5	HGNC	.	.	UPI000003AFB5	SNV	KCNK5,synonymous_variant,p.%3D,ENST00000359534,;	1398	83	32	SUCCESS
NAPEPLD	222236	.	GRCh37	7	102760530	102760530	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	153	0	ENST00000341533.4:c.435C>T	p.Leu145=	p.L145=	ENST00000341533	NM_198990.4	145	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5729.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTGAGAAA	NONE	.	.	hmmpanther:PTHR15032,hmmpanther:PTHR15032:SF8,Pfam_domain:PF12706,Gene3D:3.60.15.10,PIRSF_domain:PIRSF038896,Superfamily_domains:SSF56281	.	.	ENSP00000407112	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000417955	Transcript	.	.	ENSG00000161048	21683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAPEP_HUMAN	NAPEPLD	HGNC	C9JGB1_HUMAN	.	UPI00001D74C6	SNV	NAPEPLD,synonymous_variant,p.%3D,ENST00000341533,;NAPEPLD,synonymous_variant,p.%3D,ENST00000455523,;NAPEPLD,synonymous_variant,p.%3D,ENST00000427257,;NAPEPLD,synonymous_variant,p.%3D,ENST00000417955,;NAPEPLD,synonymous_variant,p.%3D,ENST00000465647,;NAPEPLD,downstream_gene_variant,,ENST00000418294,;NAPEPLD,synonymous_variant,p.%3D,ENST00000422589,;NAPEPLD,upstream_gene_variant,,ENST00000414118,;NAPEPLD,upstream_gene_variant,,ENST00000420631,;	590	153	53	SUCCESS
PUS7	54517	.	GRCh37	7	105146447	105146447	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	88	0	ENST00000356362.2:c.540A>G	p.Glu180=	p.E180=	ENST00000356362	NM_019042.3	180	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS34725.1	540	RADIA|MUSE|VARSCANS	.	AGCTCTTCCAA	NONE	.	.	hmmpanther:PTHR13326,PIRSF_domain:PIRSF037016	.	.	ENSP00000348722	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000356362	Transcript	.	.	ENSG00000091127	26033	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PUS7_HUMAN	PUS7	HGNC	A3R6R7_HUMAN	.	UPI00001D483E	SNV	PUS7,synonymous_variant,p.%3D,ENST00000356362,;PUS7,synonymous_variant,p.%3D,ENST00000469408,;PUS7,intron_variant,,ENST00000482157,;PUS7,synonymous_variant,p.%3D,ENST00000481939,;	755	88	38	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113519408	113519408	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	44	206	0	ENST00000284601.3:c.1739A>G	p.Asp580Gly	p.D580G	ENST00000284601	NM_002711.3	580	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5759.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACATCTGCT	CODON|p.D580D|c.1740T>C|3	.	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	COSM1447387,COSM72268	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.022)	.	tolerated(0.13)	1,1	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,missense_variant,p.Asp580Gly,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	1808	206	78	SUCCESS
LRGUK	136332	.	GRCh37	7	133812144	133812144	+	synonymous_variant	Silent	SNP	C	C	T	rs199883304	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	63	0	ENST00000285928.2:c.24C>T	p.Leu8=	p.L8=	ENST00000285928	NM_144648.1	8	ctC/ctT	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS5830.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCCTGAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0.001	.	ENSP00000285928	T:0	1/20	.	.	.	.	.	.	.	.	rs199883304	1/20	PASS	ENST00000285928	Transcript	.	T:0.0002	ENSG00000155530	21964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LRGUK_HUMAN	LRGUK	HGNC	.	.	UPI0000072C76	SNV	LRGUK,synonymous_variant,p.%3D,ENST00000285928,;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;	93	63	33	SUCCESS
ZNF398	57541	.	GRCh37	7	148863347	148863347	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	132	0	ENST00000475153.1:c.518A>G	p.Lys173Arg	p.K173R	ENST00000475153		173	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5894.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAAGGGCA	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF9,PROSITE_profiles:PS50805	.	.	ENSP00000420418	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000475153	Transcript	.	.	ENSG00000197024	18373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.25)	.	ZN398_HUMAN	ZNF398	HGNC	.	.	UPI000000DA2F	SNV	ZNF398,missense_variant,p.Lys2Arg,ENST00000335901,;ZNF398,missense_variant,p.Lys2Arg,ENST00000483892,;ZNF398,missense_variant,p.Lys173Arg,ENST00000475153,;ZNF398,missense_variant,p.Lys2Arg,ENST00000426851,;ZNF398,missense_variant,p.Lys178Arg,ENST00000540950,;ZNF398,missense_variant,p.Lys2Arg,ENST00000420008,;ZNF398,missense_variant,p.Lys2Arg,ENST00000491174,;ZNF398,downstream_gene_variant,,ENST00000485111,;	785	132	54	SUCCESS
SKAP2	8935	.	GRCh37	7	26779584	26779584	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	40	0	ENST00000345317.2:c.308-1G>A		p.X103_splice	ENST00000345317	NM_003930.3	103		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5400.1	.	RADIA|MUTECT|MUSE	.	GGCTCCTATGA	NONE	.	.	.	.	.	ENSP00000005587	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000345317	Transcript	.	.	ENSG00000005020	15687	.	.	HIGH	4/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SKAP2_HUMAN	SKAP2	HGNC	B7Z5R3_HUMAN	.	UPI0000073C8C	SNV	SKAP2,splice_acceptor_variant,,ENST00000432747,;SKAP2,splice_acceptor_variant,,ENST00000539623,;SKAP2,splice_acceptor_variant,,ENST00000345317,;SKAP2,splice_acceptor_variant,,ENST00000490456,;SKAP2,splice_acceptor_variant,,ENST00000495802,;SKAP2,splice_acceptor_variant,,ENST00000489977,;SKAP2,splice_acceptor_variant,,ENST00000468712,;	.	40	21	SUCCESS
CCT6P1	643253	.	GRCh37	7	65224875	65224875	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	62	0	ENST00000442266.1:n.924A>G		p.*308*	ENST00000442266				0	.	.	.	.	.	G	.	snoRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGTGTAACAAC	NONE	.	4229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000383907	Transcript	.	.	ENSG00000206634	32612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SNORA22	HGNC	.	.	.	SNV	SNORA22,downstream_gene_variant,,ENST00000383907,;SNORA15,upstream_gene_variant,,ENST00000384058,;CCT6P1,non_coding_transcript_exon_variant,,ENST00000442266,;CCT6P1,non_coding_transcript_exon_variant,,ENST00000443108,;CCT6P1,non_coding_transcript_exon_variant,,ENST00000434500,;	.	62	15	SUCCESS
CACNA2D1	781	.	GRCh37	7	81588622	81588622	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	73	0	ENST00000356253.5:c.3164G>A	p.Gly1055Glu	p.G1055E	ENST00000356253		1055	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS5598.1	3128	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCCTTTT	NONE	.	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	38/39	.	.	.	.	.	.	.	.	.	38/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Gly1055Glu,ENST00000356253,;CACNA2D1,missense_variant,p.Gly1043Glu,ENST00000356860,;CACNA2D1,missense_variant,p.Gly255Glu,ENST00000535308,;CACNA2D1,downstream_gene_variant,,ENST00000469297,;	3467	73	32	SUCCESS
PCLO	27445	.	GRCh37	7	82581541	82581541	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs547500251	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	23	78	0	ENST00000333891.9:c.8728G>A	p.Val2910Ile	p.V2910I	ENST00000333891	NM_033026.5	2910	Gta/Ata	0	.	A:0	.	A:0.0014	.	T	V/I	protein_coding	YES	CCDS47630.1	8728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTACGACTG	NONE	by1000G	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	A:0	.	ENSP00000334319	A:0	5/25	.	.	.	.	.	.	.	.	rs547500251,COSM1092276,COSM1092275,COSM1092277	5/25	PASS	ENST00000333891	Transcript	.	A:0.0002	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	unknown(0)	A:0	.	0,1,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Val2910Ile,ENST00000333891,;PCLO,missense_variant,p.Val2910Ile,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	9066	79	36	SUCCESS
PCLO	27445	.	GRCh37	7	82784846	82784846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	222	0	ENST00000333891.9:c.1111C>A	p.Pro371Thr	p.P371T	ENST00000333891	NM_033026.5	371	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47630.1	1111	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGCTTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Pro371Thr,ENST00000333891,;PCLO,missense_variant,p.Pro371Thr,ENST00000423517,;	1449	222	105	SUCCESS
ZNF804B	219578	.	GRCh37	7	88964537	88964537	+	synonymous_variant	Silent	SNP	C	C	T	rs1168944713	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	120	0	ENST00000333190.4:c.2241C>T	p.His747=	p.H747=	ENST00000333190	NM_181646.2	747	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS5613.1	2241	RADIA|MUTECT|MUSE|VARSCANS	.	GAACACCACTC	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,synonymous_variant,p.%3D,ENST00000333190,;	2850	120	52	SUCCESS
PTCD1	26024	.	GRCh37	7	99021404	99021404	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	119	0	ENST00000292478.4:c.1914T>C	p.Phe638=	p.F638=	ENST00000292478	NM_015545.3	638	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS56496.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCAAAGGT	NONE	.	.	hmmpanther:PTHR24014:SF5,hmmpanther:PTHR24014	.	.	ENSP00000400168	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000413834	Transcript	.	.	ENSG00000248919	38844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ATP5J2-PTCD1	HGNC	G3V325_HUMAN,C9JWL7_HUMAN,C9JQN9_HUMAN,C9JGL8_HUMAN,C9JBD7_HUMAN,A4D273_HUMAN	.	UPI000198CE57	SNV	ATP5J2-PTCD1,synonymous_variant,p.%3D,ENST00000413834,;PTCD1,synonymous_variant,p.%3D,ENST00000555673,;PTCD1,synonymous_variant,p.%3D,ENST00000292478,;BUD31,downstream_gene_variant,,ENST00000222969,;BUD31,downstream_gene_variant,,ENST00000431419,;BUD31,downstream_gene_variant,,ENST00000456893,;BUD31,downstream_gene_variant,,ENST00000403633,;	2084	119	59	SUCCESS
SGCZ	137868	.	GRCh37	8	13959983	13959983	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1010565221	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	57	0	ENST00000382080.1:c.646A>G	p.Ile216Val	p.I216V	ENST00000382080	NM_139167.2	216	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5992.2	646	MUTECT|MUSE	.	CATGATCAAGG	NONE	.	.	Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5	.	.	ENSP00000371512	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000382080	Transcript	.	.	ENSG00000185053	14075	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.58)	.	SGCZ_HUMAN	SGCZ	HGNC	.	.	UPI00002339F6	SNV	SGCZ,missense_variant,p.Ile216Val,ENST00000382080,;SGCZ,missense_variant,p.Ile169Val,ENST00000421524,;	1362	57	12	SUCCESS
KCNB2	9312	.	GRCh37	8	73480262	73480262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	103	0	ENST00000523207.1:c.293C>A	p.Ser98Tyr	p.S98Y	ENST00000523207	NM_004770.2	98	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS6209.1	293	RADIA|MUSE|VARSCANS	.	CACTTCCATTT	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169	.	.	ENSP00000430846	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.74)	.	tolerated(0.14)	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Ser98Tyr,ENST00000523207,;	881	103	57	SUCCESS
TMEM67	91147	.	GRCh37	8	94800156	94800156	+	synonymous_variant	Silent	SNP	T	T	C	rs780497869	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	131	0	ENST00000453321.3:c.1497T>C	p.Asp499=	p.D499=	ENST00000453321	NM_153704.5	499	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS6258.2	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGCCAA	NONE	byFrequency	.	hmmpanther:PTHR21274:SF0,hmmpanther:PTHR21274,Pfam_domain:PF09773	.	.	ENSP00000389998	.	14/28	.	.	.	.	.	.	.	.	rs780497869	14/28	PASS	ENST00000453321	Transcript	1	.	ENSG00000164953	28396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKS3_HUMAN	TMEM67	HGNC	E5RG10_HUMAN,C9JRQ8_HUMAN	.	UPI0000D624E9	SNV	TMEM67,synonymous_variant,p.%3D,ENST00000452276,;TMEM67,synonymous_variant,p.%3D,ENST00000409623,;TMEM67,synonymous_variant,p.%3D,ENST00000453321,;TMEM67,synonymous_variant,p.%3D,ENST00000520680,;TMEM67,downstream_gene_variant,,ENST00000453906,;TMEM67,downstream_gene_variant,,ENST00000520634,;TMEM67,synonymous_variant,p.%3D,ENST00000323130,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,upstream_gene_variant,,ENST00000523230,;	1555	131	83	SUCCESS
PRPF4	9128	.	GRCh37	9	116049016	116049016	+	synonymous_variant	Silent	SNP	C	C	T	rs779026548	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	129	0	ENST00000374198.4:c.843C>T	p.Phe281=	p.F281=	ENST00000374198	NM_001244926.1	281	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS6791.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTCCATCC	NONE	byFrequency	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19846,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000363313	.	9/14	.	.	.	.	.	.	.	.	rs779026548	9/14	PASS	ENST00000374198	Transcript	.	.	ENSG00000136875	17349	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP4_HUMAN	PRPF4	HGNC	.	.	UPI0000132340	SNV	PRPF4,synonymous_variant,p.%3D,ENST00000374198,;PRPF4,synonymous_variant,p.%3D,ENST00000374199,;PRPF4,downstream_gene_variant,,ENST00000488937,;	945	129	33	SUCCESS
COL4A5	1287	.	GRCh37	X	107834316	107834316	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	23	110	1	ENST00000361603.2:c.1194T>C	p.Pro398=	p.P398=	ENST00000361603	NM_000495.4	398	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS35366.1	1194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000331902	.	20/53	.	.	.	.	.	.	.	.	.	20/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,synonymous_variant,p.%3D,ENST00000328300,;COL4A5,synonymous_variant,p.%3D,ENST00000361603,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	1438	111	34	SUCCESS
RGAG1	0	.	GRCh37	X	109695030	109695030	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	54	0	ENST00000465301.2:c.1185T>A	p.Ser395=	p.S395=	ENST00000465301	NM_020769.2	395	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14552.1	1185	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCCTCTGGGGT	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,synonymous_variant,p.%3D,ENST00000540313,;RGAG1,synonymous_variant,p.%3D,ENST00000465301,;RGAG1,downstream_gene_variant,,ENST00000520821,;	1431	54	15	SUCCESS
ZNF185	7739	.	GRCh37	X	152106689	152106689	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1463476865	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	21	92	0	ENST00000370268.4:c.1190C>T	p.Ala397Val	p.A397V	ENST00000370268		397	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS55529.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCAAAGG	NONE	.	.	hmmpanther:PTHR15468:SF2,hmmpanther:PTHR15468	.	.	ENSP00000440847	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.18)	.	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,missense_variant,p.Ala338Val,ENST00000318504,;ZNF185,missense_variant,p.Ala429Val,ENST00000370270,;ZNF185,missense_variant,p.Ala165Val,ENST00000324823,;ZNF185,missense_variant,p.Ala398Val,ENST00000449285,;ZNF185,missense_variant,p.Ala397Val,ENST00000370268,;ZNF185,missense_variant,p.Ala176Val,ENST00000318529,;ZNF185,missense_variant,p.Ala400Val,ENST00000539731,;ZNF185,missense_variant,p.Ala132Val,ENST00000447792,;ZNF185,missense_variant,p.Ala429Val,ENST00000535861,;ZNF185,missense_variant,p.Ala156Val,ENST00000426821,;ZNF185,upstream_gene_variant,,ENST00000454925,;ZNF185,missense_variant,p.Ala400Val,ENST00000436731,;	1334	92	27	SUCCESS
ARX	170302	.	GRCh37	X	25033898	25033898	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	49	188	0	ENST00000379044.4:c.-44C>A		p.*15*	ENST00000379044	NM_139058.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14215.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTGCCTCT	NONE	.	.	.	.	.	ENSP00000368332	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000379044	Transcript	.	.	ENSG00000004848	18060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARX_HUMAN	ARX	HGNC	.	.	UPI00001260CA	SNV	ARX,5_prime_UTR_variant,,ENST00000379044,;	168	188	58	SUCCESS
MID1IP1	58526	.	GRCh37	X	38664209	38664209	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	35	166	0	ENST00000336949.6:c.10A>G	p.Ile4Val	p.I4V	ENST00000336949	NM_021242.4	4	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS14249.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAATCTGC	NONE	.	.	hmmpanther:PTHR14315,hmmpanther:PTHR14315:SF14,Pfam_domain:PF07084	.	.	ENSP00000338706	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000336949	Transcript	.	.	ENSG00000165175	20715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.2)	.	M1IP1_HUMAN	MID1IP1	HGNC	.	.	UPI0000035824	SNV	MID1IP1,missense_variant,p.Ile4Val,ENST00000378474,;MID1IP1,missense_variant,p.Ile4Val,ENST00000457894,;MID1IP1,missense_variant,p.Ile4Val,ENST00000336949,;MID1IP1-AS1,upstream_gene_variant,,ENST00000436893,;	955	166	45	SUCCESS
ACTR1A	10121	.	GRCh37	10	104247919	104247919	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	113	0	ENST00000369905.4:c.303T>G	p.Thr101=	p.T101=	ENST00000369905	NM_005736.3	101	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS7536.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAAGTCTG	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF166,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000358921	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000369905	Transcript	.	.	ENSG00000138107	167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTZ_HUMAN	ACTR1A	HGNC	F5H3I4_HUMAN,B4DXP9_HUMAN	.	UPI0000000973	SNV	ACTR1A,synonymous_variant,p.%3D,ENST00000369905,;ACTR1A,synonymous_variant,p.%3D,ENST00000487599,;ACTR1A,synonymous_variant,p.%3D,ENST00000545684,;ACTR1A,synonymous_variant,p.%3D,ENST00000446605,;RP11-18I14.11,downstream_gene_variant,,ENST00000608017,;ACTR1A,non_coding_transcript_exon_variant,,ENST00000480947,;ACTR1A,non_coding_transcript_exon_variant,,ENST00000481044,;ACTR1A,upstream_gene_variant,,ENST00000494549,;ACTR1A,upstream_gene_variant,,ENST00000470322,;	367	113	67	SUCCESS
ADD3	120	.	GRCh37	10	111883814	111883814	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1417018729	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	70	0	ENST00000356080.4:c.1183C>G	p.Arg395Gly	p.R395G	ENST00000356080	NM_016824.3	395	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS7561.1	1183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTCGAGAG	NONE	.	.	hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF5	.	.	ENSP00000348381	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000356080	Transcript	1	.	ENSG00000148700	245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	ADDG_HUMAN	ADD3	HGNC	Q5VU08_HUMAN	.	UPI0000125505	SNV	ADD3,missense_variant,p.Arg395Gly,ENST00000360162,;ADD3,missense_variant,p.Arg395Gly,ENST00000356080,;ADD3,missense_variant,p.Arg395Gly,ENST00000277900,;ADD3,non_coding_transcript_exon_variant,,ENST00000486014,;ADD3,non_coding_transcript_exon_variant,,ENST00000472568,;ADD3,non_coding_transcript_exon_variant,,ENST00000488837,;ADD3,upstream_gene_variant,,ENST00000492162,;ADD3,downstream_gene_variant,,ENST00000488104,;ADD3,upstream_gene_variant,,ENST00000479805,;ADD3,upstream_gene_variant,,ENST00000488799,;	1550	70	65	SUCCESS
ALOX5	240	.	GRCh37	10	45939709	45939709	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs994081039	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	10	86	0	ENST00000374391.2:c.1820C>T	p.Ala607Val	p.A607V	ENST00000374391	NM_000698.3	607	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7212.1	1820	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGCTGA	NONE	.	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484,Prints_domain:PR00467	.	.	ENSP00000363512	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000374391	Transcript	.	.	ENSG00000012779	435	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.782)	.	tolerated(0.89)	.	LOX5_HUMAN	ALOX5	HGNC	E5FPY7_HUMAN	.	UPI0000043F84	SNV	ALOX5,missense_variant,p.Ala607Val,ENST00000374391,;ALOX5,intron_variant,,ENST00000542434,;RP11-67C2.2,downstream_gene_variant,,ENST00000435635,;ALOX5,downstream_gene_variant,,ENST00000475300,;ALOX5,downstream_gene_variant,,ENST00000498461,;ALOX5,downstream_gene_variant,,ENST00000493336,;ALOX5,downstream_gene_variant,,ENST00000481117,;	1873	86	103	SUCCESS
WDFY4	57705	.	GRCh37	10	50025347	50025347	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	73	0	ENST00000325239.5:c.5398C>T	p.Gln1800Ter	p.Q1800*	ENST00000325239	NM_020945.1	1800	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS44385.1	5398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCAGTTC	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	31/61	.	.	.	.	.	.	.	.	COSM918528	31/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,stop_gained,p.Gln1800Ter,ENST00000325239,;WDFY4,stop_gained,p.Gln347Ter,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,upstream_gene_variant,,ENST00000265453,;	5425	73	53	SUCCESS
SFMBT2	57713	.	GRCh37	10	7327859	7327859	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs749125553	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	23	206	0	ENST00000361972.4:c.494C>A	p.Ser165Ter	p.S165*	ENST00000361972	NM_001018039.1	165	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS31138.1	494	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGAACCA	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000355109	.	5/21	.	.	.	.	.	.	.	.	rs749125553,COSM230181	5/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,stop_gained,p.Ser165Ter,ENST00000361972,;SFMBT2,stop_gained,p.Ser165Ter,ENST00000397167,;SFMBT2,stop_gained,p.Ser165Ter,ENST00000379713,;	585	206	149	SUCCESS
SFMBT2	57713	.	GRCh37	10	7327860	7327860	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	23	206	0	ENST00000361972.4:c.493T>A	p.Ser165Thr	p.S165T	ENST00000361972	NM_001018039.1	165	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS31138.1	493	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGAACCAG	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000355109	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.345)	.	tolerated(0.09)	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,missense_variant,p.Ser165Thr,ENST00000361972,;SFMBT2,missense_variant,p.Ser165Thr,ENST00000397167,;SFMBT2,missense_variant,p.Ser165Thr,ENST00000379713,;	584	206	148	SUCCESS
USP47	55031	.	GRCh37	11	11963990	11963990	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	102	0	ENST00000399455.2:c.2482C>G	p.Leu828Val	p.L828V	ENST00000399455		828	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS41619.1	2218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCTACCT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF98	.	.	ENSP00000339957	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000339865	Transcript	.	.	ENSG00000170242	20076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	UBP47_HUMAN	USP47	HGNC	.	.	UPI00001F9D69	SNV	USP47,missense_variant,p.Leu828Val,ENST00000399455,;USP47,missense_variant,p.Leu808Val,ENST00000527733,;USP47,missense_variant,p.Leu740Val,ENST00000339865,;USP47,5_prime_UTR_variant,,ENST00000539466,;USP47,upstream_gene_variant,,ENST00000530041,;USP47,non_coding_transcript_exon_variant,,ENST00000525078,;USP47,upstream_gene_variant,,ENST00000531513,;	2981	102	61	SUCCESS
TECTA	7007	.	GRCh37	11	120989400	120989400	+	synonymous_variant	Silent	SNP	C	C	T	rs776665080	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	81	0	ENST00000264037.2:c.1176C>T	p.Ile392=	p.I392=	ENST00000264037	NM_005422.2	392	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8434.1	1176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCCCCAA	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000376543	.	7/24	.	.	.	.	.	.	.	.	rs776665080	7/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,synonymous_variant,p.%3D,ENST00000264037,;TECTA,synonymous_variant,p.%3D,ENST00000392793,;	1447	81	49	SUCCESS
C11orf58	10944	.	GRCh37	11	16776415	16776415	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	188	0	ENST00000228136.4:c.319-3T>C		p.X107_splice	ENST00000228136		107		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7822.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTAGGTA	NONE	.	.	.	.	.	ENSP00000228136	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000228136	Transcript	.	.	ENSG00000110696	16990	.	.	LOW	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMAP_HUMAN	C11orf58	HGNC	E3W975_HUMAN	.	UPI000006FA0C	SNV	C11orf58,splice_region_variant,,ENST00000524439,;C11orf58,splice_region_variant,,ENST00000525684,;C11orf58,splice_region_variant,,ENST00000228136,;C11orf58,splice_region_variant,,ENST00000422258,;C11orf58,downstream_gene_variant,,ENST00000528634,;C11orf58,upstream_gene_variant,,ENST00000524508,;C11orf58,splice_region_variant,,ENST00000531658,;C11orf58,splice_region_variant,,ENST00000524461,;	.	188	102	SUCCESS
EIF3M	10480	.	GRCh37	11	32605410	32605410	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs769875867	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	59	0	ENST00000531120.1:c.-24G>A		p.*8*	ENST00000531120	NM_006360.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7880.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGTCCGC	NONE	.	.	.	.	.	ENSP00000436049	.	1/11	.	.	.	.	.	.	.	.	rs769875867	1/11	PASS	ENST00000531120	Transcript	.	.	ENSG00000149100	24460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EIF3M_HUMAN	EIF3M	HGNC	J3KNJ2_HUMAN,E9PN86_HUMAN	.	UPI0000070F8A	SNV	EIF3M,5_prime_UTR_variant,,ENST00000531120,;EIF3M,5_prime_UTR_variant,,ENST00000524896,;EIF3M,5_prime_UTR_variant,,ENST00000323213,;EIF3M,upstream_gene_variant,,ENST00000533439,;EIF3M,upstream_gene_variant,,ENST00000532054,;EIF3M,5_prime_UTR_variant,,ENST00000525782,;EIF3M,5_prime_UTR_variant,,ENST00000524711,;EIF3M,5_prime_UTR_variant,,ENST00000531921,;EIF3M,5_prime_UTR_variant,,ENST00000532444,;EIF3M,non_coding_transcript_exon_variant,,ENST00000531186,;EIF3M,upstream_gene_variant,,ENST00000530026,;	40	59	46	SUCCESS
OR10Q1	219960	.	GRCh37	11	57995759	57995759	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	154	0	ENST00000316770.2:c.589A>T	p.Ile197Phe	p.I197F	ENST00000316770	NM_001004471.2	197	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS31547.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGATGTCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000314324	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316770	Transcript	.	.	ENSG00000180475	15134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	O10Q1_HUMAN	OR10Q1	HGNC	.	.	UPI0000041C4C	SNV	OR10Q1,missense_variant,p.Ile197Phe,ENST00000316770,;	632	155	99	SUCCESS
MS4A15	219995	.	GRCh37	11	60543106	60543106	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779694586	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	88	0	ENST00000405633.3:c.641G>A	p.Ser214Asn	p.S214N	ENST00000405633	NM_001098835.1	214	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS44617.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGCGCAG	NONE	byFrequency	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF51	.	.	ENSP00000386022	.	7/7	.	.	.	.	.	.	.	.	rs779694586	7/7	PASS	ENST00000405633	Transcript	.	.	ENSG00000166961	28573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.49)	.	M4A15_HUMAN	MS4A15	HGNC	.	.	UPI00001FA81E	SNV	MS4A15,missense_variant,p.Ser121Asn,ENST00000337911,;MS4A15,missense_variant,p.Ser214Asn,ENST00000405633,;MS4A15,missense_variant,p.Ser173Asn,ENST00000528170,;MS4A15,3_prime_UTR_variant,,ENST00000429322,;	720	88	36	SUCCESS
DHX37	57647	.	GRCh37	12	125451669	125451669	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs750605552	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	92	0	ENST00000308736.2:c.1504G>A	p.Glu502Lys	p.E502K	ENST00000308736	NM_032656.3	502	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9261.1	1504	MUTECT|MUSE	.	TTTACCTTGTG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Gene3D:3.40.50.300	.	.	ENSP00000311135	.	11/27	.	.	.	.	.	.	.	.	rs750605552	11/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.39)	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,missense_variant,p.Glu502Lys,ENST00000308736,;DHX37,missense_variant,p.Glu289Lys,ENST00000544745,;DHX37,upstream_gene_variant,,ENST00000543962,;DHX37,splice_region_variant,,ENST00000539298,;	1603	92	72	SUCCESS
PGAM5	192111	.	GRCh37	12	133291565	133291565	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1448250757	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	168	0	ENST00000498926.2:c.313C>T	p.His105Tyr	p.H105Y	ENST00000498926	NM_001170543.1	105	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS53845.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCATTCC	NONE	.	.	hmmpanther:PTHR20935,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,Superfamily_domains:SSF53254	.	.	ENSP00000438465	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000498926	Transcript	.	.	ENSG00000247077	28763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PGAM5_HUMAN	PGAM5	HGNC	F5GXG4_HUMAN	.	UPI0000406AB5	SNV	PGAM5,missense_variant,p.His105Tyr,ENST00000498926,;PGAM5,missense_variant,p.His105Tyr,ENST00000317555,;PXMP2,missense_variant,p.Ala144Val,ENST00000545677,;PGAM5,5_prime_UTR_variant,,ENST00000454808,;PGAM5,5_prime_UTR_variant,,ENST00000543955,;RP13-672B3.2,downstream_gene_variant,,ENST00000537262,;PGAM5,upstream_gene_variant,,ENST00000541034,;	371	168	102	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18715634	18715634	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	13	134	0	ENST00000266497.5:c.3468-3T>A		p.X1156_splice	ENST00000266497		1156		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44839.1	.	RADIA|MUSE|VARSCANS	.	TTCTCTAGGAA	NONE	.	.	.	.	.	ENSP00000404845	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	LOW	25/31	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,splice_region_variant,,ENST00000538779,;PIK3C2G,splice_region_variant,,ENST00000266497,;PIK3C2G,splice_region_variant,,ENST00000433979,;PIK3C2G,splice_region_variant,,ENST00000546003,;	.	134	89	SUCCESS
UBE2N	7334	.	GRCh37	12	93835640	93835640	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	44	216	0	ENST00000318066.2:c.21G>T	p.Arg7Ser	p.R7S	ENST00000318066	NM_003348.3	7	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS31875.1	21	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCCTGCG	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000316176	.	1/4	.	.	.	.	.	.	.	.	COSM326802	1/4	PASS	ENST00000318066	Transcript	.	.	ENSG00000177889	12492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.983)	.	deleterious(0)	1	UBE2N_HUMAN	UBE2N	HGNC	F8VQQ8_HUMAN	.	UPI0000003EA3	SNV	UBE2N,missense_variant,p.Arg7Ser,ENST00000550657,;UBE2N,missense_variant,p.Arg7Ser,ENST00000552442,;UBE2N,missense_variant,p.Arg7Ser,ENST00000318066,;UBE2N,upstream_gene_variant,,ENST00000549833,;UBE2N,missense_variant,p.Arg7Ser,ENST00000549490,;	399	216	164	SUCCESS
EFNB2	1948	.	GRCh37	13	107164993	107164993	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	204	0	ENST00000245323.4:c.290C>T	p.Pro97Leu	p.P97L	ENST00000245323	NM_004093.3	97	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9507.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGGGGTA	NONE	.	.	Superfamily_domains:SSF49503,Pfam_domain:PF00812,Gene3D:2.60.40.420,hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304,PROSITE_profiles:PS51551	.	.	ENSP00000245323	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	tolerated(0.55)	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,missense_variant,p.Pro97Leu,ENST00000245323,;	440	204	106	SUCCESS
ZMYM5	9205	.	GRCh37	13	20411886	20411886	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	150	0	ENST00000337963.4:c.948A>G	p.Thr316=	p.T316=	ENST00000337963	NM_001142684.1	316	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS31942.1	948	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATGTACT	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF30	.	.	ENSP00000372361	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000382905	Transcript	.	.	ENSG00000132950	13029	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZMYM5_HUMAN	ZMYM5	HGNC	.	.	UPI0000070FA9	SNV	ZMYM5,synonymous_variant,p.%3D,ENST00000337963,;ZMYM5,synonymous_variant,p.%3D,ENST00000382905,;ZMYM5,synonymous_variant,p.%3D,ENST00000502168,;ZMYM5,3_prime_UTR_variant,,ENST00000382907,;RP11-61K9.2,upstream_gene_variant,,ENST00000422148,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000382909,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000467542,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000495534,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000535942,;	1101	150	68	SUCCESS
STARD13	90627	.	GRCh37	13	33703451	33703451	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	116	0	ENST00000336934.5:c.1363C>G	p.Arg455Gly	p.R455G	ENST00000336934	NM_178006.3	455	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS9348.1	1363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCGGCTGG	NONE	.	.	hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659	.	.	ENSP00000338785	.	5/14	.	.	.	.	.	.	.	.	COSM1607021	5/14	PASS	ENST00000336934	Transcript	.	.	ENSG00000133121	19164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	STA13_HUMAN	STARD13	HGNC	B3KT04_HUMAN,B2R789_HUMAN	.	UPI000006226E	SNV	STARD13,missense_variant,p.Arg440Gly,ENST00000567873,;STARD13,missense_variant,p.Arg455Gly,ENST00000336934,;STARD13,missense_variant,p.Arg447Gly,ENST00000255486,;STARD13,missense_variant,p.Arg337Gly,ENST00000399365,;	1480	116	60	SUCCESS
TRPC4	7223	.	GRCh37	13	38211433	38211433	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	126	0	ENST00000379705.3:c.2541A>G	p.Leu847=	p.L847=	ENST00000379705		847	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS45037.1	2556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAATAACCC	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Prints_domain:PR01645	.	.	ENSP00000369003	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000379681	Transcript	.	.	ENSG00000133107	12336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC4_HUMAN	TRPC4	HGNC	.	.	UPI000006E5BE	SNV	TRPC4,synonymous_variant,p.%3D,ENST00000338947,;TRPC4,synonymous_variant,p.%3D,ENST00000379681,;TRPC4,synonymous_variant,p.%3D,ENST00000379679,;TRPC4,synonymous_variant,p.%3D,ENST00000379705,;TRPC4,intron_variant,,ENST00000379673,;TRPC4,intron_variant,,ENST00000447043,;TRPC4,intron_variant,,ENST00000355779,;TRPC4,intron_variant,,ENST00000358477,;TRPC4,intron_variant,,ENST00000426868,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	2791	126	68	SUCCESS
FREM2	341640	.	GRCh37	13	39261907	39261907	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	12	0	ENST00000280481.7:c.426C>A	p.Gly142=	p.G142=	ENST00000280481	NM_207361.4	142	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31960.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGCGCG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	642	12	41	SUCCESS
NFKBIA	4792	.	GRCh37	14	35871997	35872005	+	inframe_deletion	In_Frame_Del	DEL	CCAAGGACA	CCAAGGACA	-	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	CCAAGGACA	CCAAGGACA	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	91	0	ENST00000216797.5:c.608_616del	p.Val203_Leu205del	p.V203_L205del	ENST00000216797	NM_020529.2	203	gTGTCCTTGGgt/ggt	0	.	.	.	.	.	-	VSLG/G	protein_coding	YES	CCDS9656.1	608-616	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCACCCAAGGACACCAAA	NONE	.	.	Prints_domain:PR01415,Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24139,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000216797	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000216797	Transcript	.	.	ENSG00000100906	7797	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IKBA_HUMAN	NFKBIA	HGNC	Q9UGJ5_HUMAN,G3V286_HUMAN	.	UPI000004F0A9	deletion	NFKBIA,inframe_deletion,p.Val113_Leu115del,ENST00000557389,;NFKBIA,inframe_deletion,p.Val203_Leu205del,ENST00000216797,;NFKBIA,inframe_deletion,p.Val203_Leu205del,ENST00000557140,;NFKBIA,downstream_gene_variant,,ENST00000553342,;NFKBIA,intron_variant,,ENST00000557100,;NFKBIA,3_prime_UTR_variant,,ENST00000554001,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000555371,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000556664,;NFKBIA,downstream_gene_variant,,ENST00000557459,;NFKBIA,downstream_gene_variant,,ENST00000555629,;	710-718	91	68	SUCCESS
MNS1	55329	.	GRCh37	15	56748716	56748716	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768236543	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	257	0	ENST00000260453.3:c.229G>C	p.Glu77Gln	p.E77Q	ENST00000260453	NM_018365.2	77	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS10158.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCTGCCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19265:SF0,hmmpanther:PTHR19265	.	.	ENSP00000260453	.	3/10	.	.	.	.	.	.	.	.	rs768236543	3/10	PASS	ENST00000260453	Transcript	.	.	ENSG00000138587	29636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.12)	.	MNS1_HUMAN	MNS1	HGNC	B3KQ70_HUMAN	.	UPI0000070061	SNV	MNS1,missense_variant,p.Glu77Gln,ENST00000260453,;	394	257	95	SUCCESS
SPESP1	246777	.	GRCh37	15	69238762	69238762	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs543376040	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	115	0	ENST00000310673.3:c.889G>C	p.Glu297Gln	p.E297Q	ENST00000310673	NM_145658.3	297	Gaa/Caa	0	.	A:0	.	A:0	.	C	E/Q	protein_coding	YES	CCDS10230.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCGAAACT	NONE	by1000G	.	hmmpanther:PTHR31667:SF2,hmmpanther:PTHR31667	A:0.001	.	ENSP00000312284	A:0	2/2	.	.	.	.	.	.	.	.	rs543376040	2/2	PASS	ENST00000310673	Transcript	.	A:0.0002	ENSG00000258484	15570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	A:0	deleterious(0.02)	.	SPESP_HUMAN	SPESP1	HGNC	.	.	UPI0000072E8F	SNV	SPESP1,missense_variant,p.Glu297Gln,ENST00000310673,;NOX5,intron_variant,,ENST00000455873,;NOX5,intron_variant,,ENST00000448182,;NOX5,intron_variant,,ENST00000260364,;SPESP1,downstream_gene_variant,,ENST00000560188,;SPESP1,downstream_gene_variant,,ENST00000561467,;RP11-809H16.2,intron_variant,,ENST00000557966,;	1043	115	44	SUCCESS
TBC1D21	161514	.	GRCh37	15	74177139	74177139	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs771171857	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	103	0	ENST00000300504.2:c.385A>C	p.Ile129Leu	p.I129L	ENST00000300504	NM_153356.1	129	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS10252.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAATCTAT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF258,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000300504	.	5/11	.	.	.	.	.	.	.	.	rs771171857	5/11	PASS	ENST00000300504	Transcript	.	.	ENSG00000167139	28536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TBC21_HUMAN	TBC1D21	HGNC	.	.	UPI00000741CB	SNV	TBC1D21,missense_variant,p.Ile93Leu,ENST00000535547,;TBC1D21,missense_variant,p.Ile129Leu,ENST00000300504,;TBC1D21,intron_variant,,ENST00000562056,;	468	103	81	SUCCESS
CRTC3	64784	.	GRCh37	15	91150628	91150628	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	50	0	ENST00000268184.6:c.495T>C	p.Ala165=	p.A165=	ENST00000268184		165	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS32331.1	495	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTCTTCA	NONE	.	.	Pfam_domain:PF12885,hmmpanther:PTHR13589,hmmpanther:PTHR13589:SF4	.	.	ENSP00000268184	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000268184	Transcript	.	.	ENSG00000140577	26148	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CRTC3_HUMAN	CRTC3	HGNC	.	.	UPI00001FEB98	SNV	CRTC3,synonymous_variant,p.%3D,ENST00000268184,;CRTC3,synonymous_variant,p.%3D,ENST00000558005,;CRTC3,synonymous_variant,p.%3D,ENST00000420329,;CTD-3065B20.3,intron_variant,,ENST00000559839,;CRTC3,non_coding_transcript_exon_variant,,ENST00000561255,;CRTC3,non_coding_transcript_exon_variant,,ENST00000558619,;CRTC3,downstream_gene_variant,,ENST00000558496,;CRTC3,non_coding_transcript_exon_variant,,ENST00000561119,;	499	50	32	SUCCESS
VWA3A	146177	.	GRCh37	16	22162149	22162149	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	99	0	ENST00000389398.5:c.3263C>A	p.Ser1088Tyr	p.S1088Y	ENST00000389398	NM_173615.3	1088	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS45441.1	3263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCCTTGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Gene3D:3.40.50.410,Pfam_domain:PF13768,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000374049	.	30/34	.	.	.	.	.	.	.	.	COSM3817520,COSM3817521,COSM3817519	30/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.898)	.	deleterious(0)	1,1,1	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,missense_variant,p.Ser190Tyr,ENST00000563755,;VWA3A,missense_variant,p.Ser190Tyr,ENST00000389397,;VWA3A,missense_variant,p.Ser1088Tyr,ENST00000389398,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;	3359	99	62	SUCCESS
VWA3A	146177	.	GRCh37	16	22162150	22162150	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	99	0	ENST00000389398.5:c.3264C>A	p.Ser1088=	p.S1088=	ENST00000389398	NM_173615.3	1088	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45441.1	3264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCTTGAA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Gene3D:3.40.50.410,Pfam_domain:PF13768,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000374049	.	30/34	.	.	.	.	.	.	.	.	.	30/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,synonymous_variant,p.%3D,ENST00000563755,;VWA3A,synonymous_variant,p.%3D,ENST00000389397,;VWA3A,synonymous_variant,p.%3D,ENST00000389398,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;	3360	99	62	SUCCESS
HBQ1	3049	.	GRCh37	16	230740	230740	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	18	0	ENST00000199708.2:c.171A>G	p.Arg57=	p.R57=	ENST00000199708	NM_005331.4	57	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS10400.1	171	RADIA|MUSE	.	GTCAGAGCCCA	NONE	.	.	PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF15,hmmpanther:PTHR11442,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458,Prints_domain:PR00815,Prints_domain:PR00612	.	.	ENSP00000199708	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000199708	Transcript	.	.	ENSG00000086506	4833	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HBAT_HUMAN	HBQ1	HGNC	.	.	UPI000013C621	SNV	HBQ1,synonymous_variant,p.%3D,ENST00000199708,;HBA1,downstream_gene_variant,,ENST00000397797,;HBA1,downstream_gene_variant,,ENST00000320868,;Y_RNA,downstream_gene_variant,,ENST00000384514,;HBA1,downstream_gene_variant,,ENST00000472694,;HBA1,downstream_gene_variant,,ENST00000487791,;	205	18	21	SUCCESS
SF3B3	23450	.	GRCh37	16	70595533	70595533	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	67	0	ENST00000302516.5:c.2134G>A	p.Val712Ile	p.V712I	ENST00000302516	NM_012426.4	712	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10894.1	2134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGTATTG	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1	.	.	ENSP00000305790	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.31)	.	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,missense_variant,p.Val712Ile,ENST00000302516,;SF3B3,splice_region_variant,,ENST00000568539,;SF3B3,non_coding_transcript_exon_variant,,ENST00000563739,;SF3B3,upstream_gene_variant,,ENST00000562722,;SF3B3,downstream_gene_variant,,ENST00000567250,;	2345	67	40	SUCCESS
WDR24	84219	.	GRCh37	16	735892	735892	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	116	0	ENST00000248142.6:c.1940C>T	p.Ser647Leu	p.S647L	ENST00000248142		647	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS10420.1	1550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGAGGAG	NONE	.	.	hmmpanther:PTHR22850:SF65,hmmpanther:PTHR22850	.	.	ENSP00000293883	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000293883	Transcript	.	.	ENSG00000127580	20852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.13)	.	WDR24_HUMAN	WDR24	HGNC	.	.	UPI0000037D32	SNV	WDR24,missense_variant,p.Ser517Leu,ENST00000293883,;WDR24,missense_variant,p.Ser647Leu,ENST00000248142,;JMJD8,upstream_gene_variant,,ENST00000562111,;JMJD8,upstream_gene_variant,,ENST00000562824,;STUB1,downstream_gene_variant,,ENST00000565677,;JMJD8,upstream_gene_variant,,ENST00000609261,;STUB1,downstream_gene_variant,,ENST00000567173,;JMJD8,upstream_gene_variant,,ENST00000454700,;STUB1,downstream_gene_variant,,ENST00000219548,;JMJD8,upstream_gene_variant,,ENST00000293882,;STUB1,downstream_gene_variant,,ENST00000564316,;STUB1,downstream_gene_variant,,ENST00000564370,;STUB1,downstream_gene_variant,,ENST00000566408,;JMJD8,upstream_gene_variant,,ENST00000412368,;LA16c-313D11.12,upstream_gene_variant,,ENST00000566927,;STUB1,downstream_gene_variant,,ENST00000566181,;WDR24,non_coding_transcript_exon_variant,,ENST00000567014,;JMJD8,upstream_gene_variant,,ENST00000565302,;STUB1,downstream_gene_variant,,ENST00000569248,;STUB1,downstream_gene_variant,,ENST00000565813,;JMJD8,upstream_gene_variant,,ENST00000565258,;JMJD8,upstream_gene_variant,,ENST00000568689,;JMJD8,upstream_gene_variant,,ENST00000569396,;JMJD8,upstream_gene_variant,,ENST00000563088,;JMJD8,upstream_gene_variant,,ENST00000566199,;LA16c-313D11.12,upstream_gene_variant,,ENST00000575305,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,upstream_gene_variant,,ENST00000567120,;JMJD8,upstream_gene_variant,,ENST00000568313,;JMJD8,upstream_gene_variant,,ENST00000570037,;STUB1,downstream_gene_variant,,ENST00000567790,;JMJD8,upstream_gene_variant,,ENST00000569441,;JMJD8,upstream_gene_variant,,ENST00000564436,;JMJD8,upstream_gene_variant,,ENST00000567901,;	2310	116	83	SUCCESS
WDR24	84219	.	GRCh37	16	737415	737415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	36	0	ENST00000248142.6:c.1051G>A	p.Gly351Ser	p.G351S	ENST00000248142		351	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS10420.1	661	RADIA|MUSE	.	CCAGCCCCTGT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF65,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000293883	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000293883	Transcript	.	.	ENSG00000127580	20852	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	tolerated(0.53)	.	WDR24_HUMAN	WDR24	HGNC	.	.	UPI0000037D32	SNV	WDR24,missense_variant,p.Gly221Ser,ENST00000293883,;WDR24,missense_variant,p.Gly351Ser,ENST00000248142,;JMJD8,upstream_gene_variant,,ENST00000562111,;JMJD8,upstream_gene_variant,,ENST00000562824,;STUB1,downstream_gene_variant,,ENST00000219548,;STUB1,downstream_gene_variant,,ENST00000565677,;JMJD8,upstream_gene_variant,,ENST00000609261,;STUB1,downstream_gene_variant,,ENST00000564316,;JMJD8,upstream_gene_variant,,ENST00000293882,;STUB1,downstream_gene_variant,,ENST00000564370,;STUB1,downstream_gene_variant,,ENST00000566408,;JMJD8,upstream_gene_variant,,ENST00000454700,;JMJD8,upstream_gene_variant,,ENST00000412368,;LA16c-313D11.12,upstream_gene_variant,,ENST00000566927,;JMJD8,upstream_gene_variant,,ENST00000565302,;STUB1,downstream_gene_variant,,ENST00000569248,;STUB1,downstream_gene_variant,,ENST00000565813,;JMJD8,upstream_gene_variant,,ENST00000565258,;JMJD8,upstream_gene_variant,,ENST00000568689,;JMJD8,upstream_gene_variant,,ENST00000568313,;JMJD8,upstream_gene_variant,,ENST00000569396,;JMJD8,upstream_gene_variant,,ENST00000570037,;JMJD8,upstream_gene_variant,,ENST00000563088,;WDR24,upstream_gene_variant,,ENST00000567014,;JMJD8,upstream_gene_variant,,ENST00000566199,;LA16c-313D11.12,upstream_gene_variant,,ENST00000575305,;JMJD8,upstream_gene_variant,,ENST00000567120,;JMJD8,upstream_gene_variant,,ENST00000564436,;JMJD8,upstream_gene_variant,,ENST00000569441,;JMJD8,upstream_gene_variant,,ENST00000567901,;	1421	36	25	SUCCESS
CDH13	1012	.	GRCh37	16	83816877	83816877	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779202676	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	82	0	ENST00000268613.10:c.2075G>T	p.Ser692Ile	p.S692I	ENST00000268613		692	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS58485.1	2075	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAAGCCTTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF80,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268613	.	14/15	.	.	.	.	.	.	.	.	rs779202676	14/15	PASS	ENST00000268613	Transcript	.	.	ENSG00000140945	1753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.09)	.	CAD13_HUMAN	CDH13	HGNC	.	.	UPI00020E71A6	SNV	CDH13,missense_variant,p.Ser606Ile,ENST00000428848,;CDH13,missense_variant,p.Ser692Ile,ENST00000268613,;CDH13,missense_variant,p.Ser645Ile,ENST00000566620,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	2168	82	45	SUCCESS
BPTF	2186	.	GRCh37	17	65822352	65822352	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1284339360	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	191	0	ENST00000321892.4:c.512A>G	p.Asp171Gly	p.D171G	ENST00000321892		171	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11673.1	512	RADIA|MUTECT|MUSE|VARSCANS	.	CGACGATGACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Asp171Gly,ENST00000306378,;BPTF,missense_variant,p.Asp171Gly,ENST00000321892,;BPTF,missense_variant,p.Asp171Gly,ENST00000544778,;BPTF,missense_variant,p.Asp171Gly,ENST00000335221,;BPTF,missense_variant,p.Asp32Gly,ENST00000424123,;	572	191	98	SUCCESS
CD300C	10871	.	GRCh37	17	72539019	72539019	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs765996056	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	129	0	ENST00000330793.1:c.508G>T	p.Glu170Ter	p.E170*	ENST00000330793	NM_006678.4	170	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11701.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF39	.	.	ENSP00000329507	.	3/4	.	.	.	.	.	.	.	.	rs765996056	3/4	PASS	ENST00000330793	Transcript	.	.	ENSG00000167850	19320	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM6_HUMAN	CD300C	HGNC	.	.	UPI0000127BB8	SNV	CD300C,stop_gained,p.Glu170Ter,ENST00000330793,;	869	129	104	SUCCESS
CD300C	10871	.	GRCh37	17	72539020	72539020	+	synonymous_variant	Silent	SNP	G	G	T	rs147705680	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	131	0	ENST00000330793.1:c.507C>A	p.Pro169=	p.P169=	ENST00000330793	NM_006678.4	169	ccC/ccA	0	A:0.0002	.	.	.	.	T	P	protein_coding	YES	CCDS11701.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCGGGGCT	NONE	byCluster	.	hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF39	.	A:0	ENSP00000329507	.	3/4	.	.	.	.	.	.	.	.	rs147705680,COSM3672561	3/4	PASS	ENST00000330793	Transcript	.	.	ENSG00000167850	19320	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CLM6_HUMAN	CD300C	HGNC	.	.	UPI0000127BB8	SNV	CD300C,synonymous_variant,p.%3D,ENST00000330793,;	868	131	107	SUCCESS
ACOX1	51	.	GRCh37	17	73975154	73975154	+	start_lost	Translation_Start_Site	SNP	T	T	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	55	0	ENST00000301608.4:c.1A>C	p.Met1?	p.M1?	ENST00000301608	NM_007292.5	1	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS11734.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATGGCGA	NONE	.	.	hmmpanther:PTHR10909:SF263,hmmpanther:PTHR10909,PIRSF_domain:PIRSF000168	.	.	ENSP00000293217	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000293217	Transcript	.	.	ENSG00000161533	119	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	.	deleterious(0.05)	.	ACOX1_HUMAN	ACOX1	HGNC	.	.	UPI000013E0F5	SNV	ACOX1,start_lost,p.Met1?,ENST00000293217,;ACOX1,start_lost,p.Met1?,ENST00000588176,;ACOX1,start_lost,p.Met1?,ENST00000301608,;ACOX1,5_prime_UTR_variant,,ENST00000537812,;TEN1,upstream_gene_variant,,ENST00000586891,;TEN1,upstream_gene_variant,,ENST00000416485,;ACOX1,upstream_gene_variant,,ENST00000576743,;TEN1,upstream_gene_variant,,ENST00000590676,;TEN1,upstream_gene_variant,,ENST00000588202,;TEN1,upstream_gene_variant,,ENST00000397640,;ACOX1,non_coding_transcript_exon_variant,,ENST00000591857,;ACOX1,start_lost,p.Met1?,ENST00000573078,;ACOX1,start_lost,p.Met1?,ENST00000589301,;ACOX1,start_lost,p.Met1?,ENST00000572047,;TEN1-CDK3,upstream_gene_variant,,ENST00000567351,;TEN1-CDK3,upstream_gene_variant,,ENST00000569284,;ACOX1,upstream_gene_variant,,ENST00000592329,;	291	55	32	SUCCESS
EVPL	2125	.	GRCh37	17	74011082	74011082	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	31	0	ENST00000301607.3:c.2137T>A	p.Phe713Ile	p.F713I	ENST00000301607	NM_001988.2	713	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11737.1	2137	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAACTCCT	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.735)	.	deleterious(0.01)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Phe735Ile,ENST00000586740,;EVPL,missense_variant,p.Phe713Ile,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;EVPL,upstream_gene_variant,,ENST00000593037,;	2391	31	39	SUCCESS
OGFOD3	79701	.	GRCh37	17	80373361	80373361	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	66	0	ENST00000313056.5:c.217G>A	p.Val73Ile	p.V73I	ENST00000313056	NM_024648.2	73	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS11812.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACCTCTG	NONE	.	.	hmmpanther:PTHR14650,hmmpanther:PTHR14650:SF1	.	.	ENSP00000330075	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000329197	Transcript	.	.	ENSG00000181396	26174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.2)	.	OGFD3_HUMAN	OGFOD3	HGNC	.	.	UPI00001AF029	SNV	OGFOD3,missense_variant,p.Val73Ile,ENST00000329197,;OGFOD3,missense_variant,p.Val12Ile,ENST00000583897,;OGFOD3,missense_variant,p.Val73Ile,ENST00000313056,;OGFOD3,5_prime_UTR_variant,,ENST00000577495,;HEXDC,upstream_gene_variant,,ENST00000577944,;HEXDC,upstream_gene_variant,,ENST00000337014,;HEXDC,upstream_gene_variant,,ENST00000580235,;HEXDC,upstream_gene_variant,,ENST00000327949,;Y_RNA,upstream_gene_variant,,ENST00000364369,;OGFOD3,non_coding_transcript_exon_variant,,ENST00000577606,;OGFOD3,missense_variant,p.Val73Ile,ENST00000580445,;HEXDC,upstream_gene_variant,,ENST00000583978,;HEXDC,upstream_gene_variant,,ENST00000582315,;HEXDC,upstream_gene_variant,,ENST00000581482,;OGFOD3,upstream_gene_variant,,ENST00000579407,;	308	66	63	SUCCESS
PER1	5187	.	GRCh37	17	8051980	8051980	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769554705	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	57	0	ENST00000317276.4:c.1030A>G	p.Ile344Val	p.I344V	ENST00000317276	NM_002616.2	344	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS11131.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATGCGCT	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	.	.	ENSP00000314420	.	8/23	.	.	.	.	.	.	.	.	rs769554705	8/23	PASS	ENST00000317276	Transcript	.	.	ENSG00000179094	8845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	PER1_HUMAN	PER1	HGNC	J3QLQ5_HUMAN,A2I2P6_HUMAN	.	UPI000013FFF5	SNV	PER1,missense_variant,p.Ile344Val,ENST00000317276,;PER1,missense_variant,p.Ile324Val,ENST00000581082,;PER1,missense_variant,p.Ile328Val,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,upstream_gene_variant,,ENST00000583559,;PER1,downstream_gene_variant,,ENST00000577253,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Ile344Val,ENST00000581395,;PER1,missense_variant,p.Ile344Val,ENST00000582719,;PER1,non_coding_transcript_exon_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000579065,;	1268	57	63	SUCCESS
LDLRAD4	753	.	GRCh37	18	13645383	13645383	+	synonymous_variant	Silent	SNP	T	T	C	rs1450631249	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	82	0	ENST00000359446.5:c.648T>C	p.Ser216=	p.S216=	ENST00000359446	NM_181481.4	216	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS32793.1	648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGTGATTT	NONE	.	.	hmmpanther:PTHR16514:SF4,hmmpanther:PTHR16514	.	.	ENSP00000354753	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361205	Transcript	.	.	ENSG00000168675	1224	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRAD4_HUMAN	LDLRAD4	HGNC	K7EMG1_HUMAN,K7EKD6_HUMAN,K7EJM9_HUMAN	.	UPI0000126BCF	SNV	LDLRAD4,synonymous_variant,p.%3D,ENST00000361205,;LDLRAD4,synonymous_variant,p.%3D,ENST00000359446,;LDLRAD4,synonymous_variant,p.%3D,ENST00000399848,;LDLRAD4,synonymous_variant,p.%3D,ENST00000587757,;LDLRAD4,synonymous_variant,p.%3D,ENST00000585931,;LDLRAD4,synonymous_variant,p.%3D,ENST00000592991,;LDLRAD4,synonymous_variant,p.%3D,ENST00000586765,;RP11-701H16.4,intron_variant,,ENST00000588397,;LDLRAD4,downstream_gene_variant,,ENST00000586207,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000435606,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000361303,;	1316	82	56	SUCCESS
DCC	1630	.	GRCh37	18	50918256	50918256	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	50	0	ENST00000442544.2:c.2687A>G	p.Lys896Arg	p.K896R	ENST00000442544	NM_005215.3	896	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11952.1	2687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAAGGTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	17/29	.	.	.	.	.	.	.	.	.	17/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.323)	.	tolerated(0.09)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Lys531Arg,ENST00000581580,;DCC,missense_variant,p.Lys896Arg,ENST00000442544,;DCC,missense_variant,p.Lys724Arg,ENST00000412726,;DCC,missense_variant,p.Lys35Arg,ENST00000579941,;DCC,intron_variant,,ENST00000304775,;	3303	50	45	SUCCESS
CYP4F8	11283	.	GRCh37	19	15740207	15740207	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs772354789	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	62	0	ENST00000589787.1:n.3311A>G		p.*1104*	ENST00000589787				0	.	.	.	.	.	G	.	retained_intron	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTACCTTT	NONE	byFrequency	.	.	.	.	.	.	9/9	.	.	.	.	.	.	.	.	rs772354789	9/9	PASS	ENST00000589787	Transcript	.	.	ENSG00000186526	2648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CYP4F8	HGNC	.	.	.	SNV	CYP4F8,non_coding_transcript_exon_variant,,ENST00000589778,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589722,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000325723,;CYP4F8,downstream_gene_variant,,ENST00000589019,;CYP4F8,downstream_gene_variant,,ENST00000443973,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590745,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000585349,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589787,;CYP4F8,downstream_gene_variant,,ENST00000589927,;	3311	62	33	SUCCESS
KMT2B	9757	.	GRCh37	19	36220117	36220117	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1370214169	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	138	0	ENST00000222270.7:c.4837A>G	p.Ile1613Val	p.I1613V	ENST00000222270	NM_014727.1	1613	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46055.1	4837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCATCTGG	NONE	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,Pfam_domain:PF13771,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Ile1613Val,ENST00000420124,;KMT2B,missense_variant,p.Ile1613Val,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000592092,;	4837	139	114	SUCCESS
WDR87	83889	.	GRCh37	19	38384931	38384931	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1449116015	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	142	0	ENST00000303868.5:c.1295G>A	p.Arg432Gln	p.R432Q	ENST00000303868	NM_031951.3	432	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS46063.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCGCCCC	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Arg471Gln,ENST00000447313,;WDR87,missense_variant,p.Arg432Gln,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	1520	142	63	SUCCESS
ANKRD24	170961	.	GRCh37	19	4224480	4224480	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	76	0	ENST00000318934.4:c.3419G>C	p.Arg1140Thr	p.R1140T	ENST00000318934		1140	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS45925.1	3419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGACTCC	NONE	.	.	hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8	.	.	ENSP00000471252	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000600132	Transcript	.	.	ENSG00000089847	29424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	ANR24_HUMAN	ANKRD24	HGNC	.	.	UPI000041F5A9	SNV	ANKRD24,missense_variant,p.Arg1230Thr,ENST00000262970,;ANKRD24,missense_variant,p.Arg1140Thr,ENST00000600132,;ANKRD24,missense_variant,p.Arg1140Thr,ENST00000318934,;	3695	76	43	SUCCESS
KLK8	11202	.	GRCh37	19	51503826	51503826	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	95	0	ENST00000600767.1:c.84A>T	p.Ala28=	p.A28=	ENST00000600767		28	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42600.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGTGCCCT	NONE	.	.	hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF7,Superfamily_domains:SSF50494	.	.	ENSP00000375682	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000391806	Transcript	.	.	ENSG00000129455	6369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLK8_HUMAN	KLK8	HGNC	B3FQ95_HUMAN	.	UPI000002ACDB	SNV	KLK8,synonymous_variant,p.%3D,ENST00000291726,;KLK8,synonymous_variant,p.%3D,ENST00000391806,;KLK8,synonymous_variant,p.%3D,ENST00000600767,;KLK8,synonymous_variant,p.%3D,ENST00000595238,;KLK9,3_prime_UTR_variant,,ENST00000376832,;KLK8,intron_variant,,ENST00000347619,;KLK8,intron_variant,,ENST00000320838,;KLK8,intron_variant,,ENST00000593490,;KLK9,downstream_gene_variant,,ENST00000594211,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK9,3_prime_UTR_variant,,ENST00000250366,;KLK8,non_coding_transcript_exon_variant,,ENST00000599710,;KLK8,intron_variant,,ENST00000594669,;KLK9,intron_variant,,ENST00000599166,;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594914,;	300	95	64	SUCCESS
LILRA6	79168	.	GRCh37	19	54746124	54746124	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758274752	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	270	51	539	0	ENST00000396365.2:c.133G>A	p.Val45Met	p.V45M	ENST00000396365	NM_024318.2	45	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS42610.1	133	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACGGGGC	NONE	.	.	Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738	.	.	ENSP00000379651	.	3/8	.	.	.	.	.	.	.	.	rs758274752	3/8	PASS	ENST00000396365	Transcript	.	.	ENSG00000244482	15495	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	tolerated(0.15)	.	LIRA6_HUMAN	LILRA6	HGNC	.	.	UPI000022A9CA	SNV	LILRA6,missense_variant,p.Val45Met,ENST00000245621,;LILRB3,missense_variant,p.Val45Met,ENST00000407860,;LILRA6,missense_variant,p.Val45Met,ENST00000270464,;LILRA6,missense_variant,p.Val45Met,ENST00000391735,;LILRA6,missense_variant,p.Val45Met,ENST00000440558,;LILRA6,missense_variant,p.Val45Met,ENST00000396365,;LILRA6,missense_variant,p.Val45Met,ENST00000419410,;LILRA6,missense_variant,p.Val45Met,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;	173	539	321	SUCCESS
LILRB4	11006	.	GRCh37	19	55176617	55176617	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	32	205	0	ENST00000391736.1:c.743C>T	p.Ser248Leu	p.S248L	ENST00000391736	NM_001278430.2	248	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS12902.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTCAGTCC	NONE	.	.	hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738	.	.	ENSP00000375616	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000391736	Transcript	.	.	ENSG00000186818	6608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	tolerated(0.34)	.	LIRB4_HUMAN	LILRB4	HGNC	.	.	UPI000013D889	SNV	LILRB4,missense_variant,p.Ser247Leu,ENST00000434286,;LILRB4,missense_variant,p.Ser248Leu,ENST00000270452,;LILRB4,missense_variant,p.Ser248Leu,ENST00000391733,;LILRB4,missense_variant,p.Ser248Leu,ENST00000391736,;LILRB4,missense_variant,p.Ser248Leu,ENST00000391734,;LILRB4,missense_variant,p.Ser248Leu,ENST00000430952,;LILRB4,non_coding_transcript_exon_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,upstream_gene_variant,,ENST00000470943,;	1058	205	145	SUCCESS
NLRP8	126205	.	GRCh37	19	56473481	56473482	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	130	14	165	0	ENST00000291971.3:c.2094_2095del	p.Phe699CysfsTer4	p.F699Cfs*4	ENST00000291971	NM_176811.2	697	tcTGtg/tctg	0	.	.	.	.	.	-	SV/SX	protein_coding	YES	CCDS12937.1	2091-2092	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCTCTGTGTTT	NONE	.	.	Superfamily_domains:SSF52047,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11	.	.	ENSP00000291971	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000291971	Transcript	.	.	ENSG00000179709	22940	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NALP8_HUMAN	NLRP8	HGNC	.	.	UPI00001BB3C9	deletion	NLRP8,frameshift_variant,p.Phe699CysfsTer4,ENST00000590542,;NLRP8,frameshift_variant,p.Phe699CysfsTer4,ENST00000291971,;	2162-2163	165	144	SUCCESS
MUC16	94025	.	GRCh37	19	8994178	8994178	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1309788182	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	112	0	ENST00000397910.4:c.41507G>T	p.Gly13836Val	p.G13836V	ENST00000397910	NM_024690.2	13836	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS54212.1	41507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCCAACA	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	65/84	.	.	.	.	.	.	.	.	.	65/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Gly477Val,ENST00000380951,;MUC16,missense_variant,p.Gly13836Val,ENST00000397910,;MUC16,missense_variant,p.Gly676Val,ENST00000599436,;MUC16,missense_variant,p.Gly654Val,ENST00000601404,;MUC16,missense_variant,p.Gly456Val,ENST00000596768,;	41711	112	79	SUCCESS
PSRC1	84722	.	GRCh37	1	109823808	109823808	+	synonymous_variant	Silent	SNP	C	C	A	rs374475468	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	103	1	ENST00000409138.2:c.585G>T	p.Ser195=	p.S195=	ENST00000409138		195	tcG/tcT	0	T:0	.	.	.	.	A	S	protein_coding	YES	CCDS797.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCGATCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21584:SF1,hmmpanther:PTHR21584	.	T:0.0001	ENSP00000358925	.	5/8	.	.	.	.	.	.	.	.	rs374475468	5/8	PASS	ENST00000369909	Transcript	.	.	ENSG00000134222	24472	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSRC1_HUMAN	PSRC1	HGNC	Q5T2Z1_HUMAN,Q5T2Z0_HUMAN	.	UPI0000073C97	SNV	PSRC1,synonymous_variant,p.%3D,ENST00000369909,;PSRC1,synonymous_variant,p.%3D,ENST00000429031,;PSRC1,synonymous_variant,p.%3D,ENST00000369904,;PSRC1,synonymous_variant,p.%3D,ENST00000409267,;PSRC1,synonymous_variant,p.%3D,ENST00000438534,;PSRC1,synonymous_variant,p.%3D,ENST00000418914,;PSRC1,synonymous_variant,p.%3D,ENST00000369907,;PSRC1,synonymous_variant,p.%3D,ENST00000409138,;PSRC1,synonymous_variant,p.%3D,ENST00000474126,;PSRC1,synonymous_variant,p.%3D,ENST00000369903,;PSRC1,non_coding_transcript_exon_variant,,ENST00000492431,;PSRC1,downstream_gene_variant,,ENST00000471740,;PSRC1,downstream_gene_variant,,ENST00000459765,;	729	104	54	SUCCESS
CD2	914	.	GRCh37	1	117311336	117311336	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	136	0	ENST00000369478.3:c.987C>A	p.Pro329=	p.P329=	ENST00000369478	NM_001767.3	329	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS889.1	987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCAGACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF10	.	.	ENSP00000358490	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000369478	Transcript	.	.	ENSG00000116824	1639	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD2_HUMAN	CD2	HGNC	Q53F96_HUMAN	.	UPI0000062209	SNV	CD2,synonymous_variant,p.%3D,ENST00000369478,;	1095	136	93	SUCCESS
HIST2H2AC	0	.	GRCh37	1	149858529	149858529	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	62	77	0	ENST00000331380.2:c.5C>G	p.Ser2Cys	p.S2C	ENST00000331380	NM_003517.2	2	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS937.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCTGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24	.	.	ENSP00000332194	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331380	Transcript	.	.	ENSG00000184260	4738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious_low_confidence(0.02)	.	H2A2C_HUMAN	HIST2H2AC	HGNC	.	.	UPI000007478F	SNV	HIST2H2AC,missense_variant,p.Ser2Cys,ENST00000331380,;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,;HIST2H2BE,upstream_gene_variant,,ENST00000369155,;	5	78	137	SUCCESS
SHC1	6464	.	GRCh37	1	154941042	154941042	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	139	0	ENST00000368445.5:c.679T>G	p.Phe227Val	p.F227V	ENST00000368445	NM_183001.4	227	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS44233.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAATTTCA	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR10337:SF2,hmmpanther:PTHR10337,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000401303	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000448116	Transcript	.	.	ENSG00000160691	10840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.599)	.	deleterious(0.01)	.	SHC1_HUMAN	SHC1	HGNC	Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN,B4DL02_HUMAN	.	UPI00002048B4	SNV	SHC1,missense_variant,p.Phe117Val,ENST00000412170,;SHC1,missense_variant,p.Phe227Val,ENST00000448116,;SHC1,missense_variant,p.Phe227Val,ENST00000368445,;SHC1,missense_variant,p.Phe117Val,ENST00000368453,;SHC1,missense_variant,p.Phe28Val,ENST00000606391,;SHC1,missense_variant,p.Phe117Val,ENST00000366442,;SHC1,missense_variant,p.Phe117Val,ENST00000368450,;SHC1,5_prime_UTR_variant,,ENST00000368449,;SHC1,5_prime_UTR_variant,,ENST00000414115,;SHC1,5_prime_UTR_variant,,ENST00000444179,;SHC1,upstream_gene_variant,,ENST00000444664,;SHC1,upstream_gene_variant,,ENST00000490667,;PYGO2,upstream_gene_variant,,ENST00000483463,;	900	139	126	SUCCESS
SPTA1	6708	.	GRCh37	1	158612680	158612680	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	242	11	246	0	ENST00000368147.4:c.4529A>G	p.Glu1510Gly	p.E1510G	ENST00000368147	NM_003126.2	1510	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41423.1	4529	MUTECT|MUSE	.	GCTCCTCAAGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	32/52	.	.	.	.	.	.	.	.	.	32/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Glu1510Gly,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000465741,;	4710	246	253	SUCCESS
PIGM	93183	.	GRCh37	1	160001525	160001525	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	14	94	0	ENST00000368090.2:c.5G>C	p.Gly2Ala	p.G2A	ENST00000368090	NM_145167.2	2	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS1192.1	5	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCCATG	NONE	.	.	hmmpanther:PTHR12886:SF0,hmmpanther:PTHR12886	.	.	ENSP00000357069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368090	Transcript	.	.	ENSG00000143315	18858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.67)	.	PIGM_HUMAN	PIGM	HGNC	.	.	UPI000006D9D7	SNV	PIGM,missense_variant,p.Gly2Ala,ENST00000368090,;RP11-226L15.5,upstream_gene_variant,,ENST00000562313,;	259	94	93	SUCCESS
RXRG	6258	.	GRCh37	1	165414274	165414274	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	43	0	ENST00000359842.5:c.-144C>T		p.*48*	ENST00000359842	NM_001256570.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1248.1	.	MUTECT|MUSE	.	GGCTGGGCCAG	NONE	.	.	.	.	.	ENSP00000352900	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000359842	Transcript	.	.	ENSG00000143171	10479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RXRG_HUMAN	RXRG	HGNC	F1D8Q7_HUMAN	.	UPI000004989F	SNV	RXRG,5_prime_UTR_variant,,ENST00000359842,;RXRG,non_coding_transcript_exon_variant,,ENST00000465764,;	160	43	34	SUCCESS
CROCC	9696	.	GRCh37	1	17256975	17256975	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	139	0	ENST00000375541.5:c.735G>T	p.Gln245His	p.Q245H	ENST00000375541	NM_014675.3	245	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS30616.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGCAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159,Pfam_domain:PF15035	.	.	ENSP00000364691	.	7/37	.	.	.	.	.	.	.	.	.	7/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Gln105His,ENST00000445545,;CROCC,missense_variant,p.Gln245His,ENST00000375541,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000467938,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;	804	139	108	SUCCESS
PRG4	10216	.	GRCh37	1	186277383	186277383	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	19	259	0	ENST00000445192.2:c.2532A>C	p.Pro844=	p.P844=	ENST00000445192	NM_005807.3	844	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS1369.1	2532	RADIA|MUTECT|MUSE	.	GCTCCAACTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1	.	.	ENSP00000399679	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,synonymous_variant,p.%3D,ENST00000367482,;PRG4,synonymous_variant,p.%3D,ENST00000367486,;PRG4,synonymous_variant,p.%3D,ENST00000367483,;PRG4,synonymous_variant,p.%3D,ENST00000367485,;PRG4,synonymous_variant,p.%3D,ENST00000367484,;PRG4,synonymous_variant,p.%3D,ENST00000445192,;TPR,downstream_gene_variant,,ENST00000367478,;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	2577	259	226	SUCCESS
ELK4	2005	.	GRCh37	1	205589534	205589534	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs368269938	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	19	170	0	ENST00000357992.4:c.640A>T	p.Ile214Phe	p.I214F	ENST00000357992	NM_001973.3	214	Att/Ttt	0	C:0.0002	.	.	.	.	A	I/F	protein_coding	YES	CCDS1456.1	640	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATACTTG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11849:SF21,hmmpanther:PTHR11849	.	C:0	ENSP00000350681	.	3/5	.	.	.	.	.	.	.	.	rs368269938	3/5	PASS	ENST00000357992	Transcript	.	.	ENSG00000158711	3326	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.11)	.	ELK4_HUMAN	ELK4	HGNC	Q8IXL1_HUMAN	.	UPI0000129E67	SNV	ELK4,missense_variant,p.Ile214Phe,ENST00000357992,;ELK4,missense_variant,p.Ile214Phe,ENST00000289703,;ELK4,downstream_gene_variant,,ENST00000468523,;	980	171	164	SUCCESS
RYR2	6262	.	GRCh37	1	237802427	237802427	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	82	184	0	ENST00000366574.2:c.7041G>A	p.Met2347Ile	p.M2347I	ENST00000366574	NM_001035.2	2347	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS55691.1	7041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATGGAAGA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	46/105	.	.	.	.	.	.	.	.	.	46/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Met2331Ile,ENST00000542537,;RYR2,missense_variant,p.Met2347Ile,ENST00000366574,;RYR2,missense_variant,p.Met2345Ile,ENST00000360064,;	7358	184	177	SUCCESS
CYB5RL	606495	.	GRCh37	1	54640412	54640412	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	42	0	ENST00000534324.1:c.828G>A	p.Leu276=	p.L276=	ENST00000534324		276	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44151.1	828	MUSE|VARSCANS	.	CTGACCAGCTC	NONE	.	.	Superfamily_domains:SSF52343,Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF81	.	.	ENSP00000409075	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000419823	Transcript	.	.	ENSG00000215883	32220	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NB5R5_HUMAN	CYB5RL	HGNC	.	.	UPI000019863E	SNV	CYB5RL,synonymous_variant,p.%3D,ENST00000534324,;CYB5RL,synonymous_variant,p.%3D,ENST00000537208,;CYB5RL,synonymous_variant,p.%3D,ENST00000542737,;CYB5RL,synonymous_variant,p.%3D,ENST00000419823,;CYB5RL,synonymous_variant,p.%3D,ENST00000287899,;CYB5RL,synonymous_variant,p.%3D,ENST00000401046,;CYB5RL,downstream_gene_variant,,ENST00000493530,;AL357673.1,upstream_gene_variant,,ENST00000536061,;RP11-446E24.4,upstream_gene_variant,,ENST00000525949,;CYB5RL,3_prime_UTR_variant,,ENST00000421415,;CYB5RL,3_prime_UTR_variant,,ENST00000528287,;CYB5RL,3_prime_UTR_variant,,ENST00000420054,;CYB5RL,non_coding_transcript_exon_variant,,ENST00000490863,;RP11-446E24.4,intron_variant,,ENST00000311841,;	1053	42	25	SUCCESS
SLC44A5	204962	.	GRCh37	1	75684996	75684996	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	81	0	ENST00000370855.5:c.1212A>T	p.Lys404Asn	p.K404N	ENST00000370855	NM_152697.4	404	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS667.1	1212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTTTGTA	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385,Pfam_domain:PF04515	.	.	ENSP00000359892	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.12)	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,missense_variant,p.Lys274Asn,ENST00000535611,;SLC44A5,missense_variant,p.Lys404Asn,ENST00000370855,;SLC44A5,missense_variant,p.Lys404Asn,ENST00000370859,;	1326	81	47	SUCCESS
CHRNA4	1137	.	GRCh37	20	61978128	61978128	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	49	0	ENST00000370263.4:c.1846G>T	p.Gly616Cys	p.G616C	ENST00000370263	NM_000744.6	616	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS13517.1	1846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCACCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000359285	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,missense_variant,p.Gly616Cys,ENST00000370263,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;	2068	49	62	SUCCESS
SAMSN1	64092	.	GRCh37	21	15873032	15873032	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	11	163	0	ENST00000400566.1:c.586T>C	p.Cys196Arg	p.C196R	ENST00000400566	NM_022136.4	196	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS58786.1	790	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCAAATAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000285670	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000285670	Transcript	.	.	ENSG00000155307	10528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	tolerated(0.62)	.	.	SAMSN1	HGNC	S6FRS6_HUMAN,F8WAA1_HUMAN	.	UPI000013DDFD	SNV	SAMSN1,missense_variant,p.Cys196Arg,ENST00000400566,;SAMSN1,missense_variant,p.Cys28Arg,ENST00000400564,;SAMSN1,missense_variant,p.Cys264Arg,ENST00000285670,;SAMSN1,upstream_gene_variant,,ENST00000463807,;	965	163	89	SUCCESS
DYRK1A	1859	.	GRCh37	21	38865436	38865436	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1555985724	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	118	0	ENST00000398960.2:c.1069G>T	p.Gly357Ter	p.G357*	ENST00000398960	NM_001396.3	357	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS42925.1	1069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTGGAGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000381932	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,stop_gained,p.Gly357Ter,ENST00000451934,;DYRK1A,stop_gained,p.Gly348Ter,ENST00000339659,;DYRK1A,stop_gained,p.Gly129Ter,ENST00000455387,;DYRK1A,stop_gained,p.Gly357Ter,ENST00000398956,;DYRK1A,stop_gained,p.Gly357Ter,ENST00000398960,;DYRK1A,stop_gained,p.Gly357Ter,ENST00000338785,;DYRK1A,stop_gained,p.Gly357Ter,ENST00000321219,;	1144	118	63	SUCCESS
GAB4	128954	.	GRCh37	22	17450871	17450871	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	142	0	ENST00000400588.1:c.899C>A	p.Thr300Asn	p.T300N	ENST00000400588	NM_001037814.1	300	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS42976.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGTGTGG	NONE	.	.	hmmpanther:PTHR12156:SF20,hmmpanther:PTHR12156	.	.	ENSP00000383431	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000400588	Transcript	.	.	ENSG00000215568	18325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	deleterious(0.05)	.	GAB4_HUMAN	GAB4	HGNC	.	.	UPI00002326B5	SNV	GAB4,missense_variant,p.Thr300Asn,ENST00000400588,;GAB4,intron_variant,,ENST00000523144,;GAB4,upstream_gene_variant,,ENST00000520505,;GAB4,intron_variant,,ENST00000465611,;	1007	143	69	SUCCESS
RASD2	23551	.	GRCh37	22	35947948	35947948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	66	0	ENST00000216127.4:c.670G>A	p.Glu224Lys	p.E224K	ENST00000216127	NM_014310.3	224	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13916.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGAGATG	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF229,SMART_domains:SM00176	.	.	ENSP00000216127	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000216127	Transcript	.	.	ENSG00000100302	18229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.91)	.	RHES_HUMAN	RASD2	HGNC	.	.	UPI000004980A	SNV	RASD2,missense_variant,p.Glu224Lys,ENST00000216127,;	1312	66	39	SUCCESS
NXPH2	11249	.	GRCh37	2	139428887	139428887	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	182	0	ENST00000272641.3:c.400A>G	p.Ile134Val	p.I134V	ENST00000272641	NM_007226.2	134	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46421.1	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAATTTTCC	NONE	.	.	hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000272641	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000272641	Transcript	.	.	ENSG00000144227	8076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.15)	.	NXPH2_HUMAN	NXPH2	HGNC	.	.	UPI000023FCD4	SNV	NXPH2,missense_variant,p.Ile134Val,ENST00000272641,;	507	182	102	SUCCESS
CCDC141	285025	.	GRCh37	2	179753268	179753268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	149	0	ENST00000420890.2:c.1393G>T	p.Gly465Cys	p.G465C	ENST00000420890	NM_173648.3	465	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	.	1393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACCCTCCA	NONE	.	.	hmmpanther:PTHR19897	.	.	ENSP00000395995	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000420890	Transcript	.	.	ENSG00000163492	26821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	.	CCDC141	HGNC	H7C0P1_HUMAN,E7ERF0_HUMAN	.	UPI0000EE2F1C	SNV	CCDC141,missense_variant,p.Gly465Cys,ENST00000420890,;CCDC141,missense_variant,p.Gly465Cys,ENST00000443758,;CCDC141,missense_variant,p.Gly465Cys,ENST00000409284,;CCDC141,missense_variant,p.Gly400Cys,ENST00000446116,;CCDC141,upstream_gene_variant,,ENST00000343876,;CCDC141,upstream_gene_variant,,ENST00000295723,;	1511	149	71	SUCCESS
SF3B1	23451	.	GRCh37	2	198267752	198267752	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	134	0	ENST00000335508.6:c.1727T>C	p.Val576Ala	p.V576A	ENST00000335508	NM_012433.2	576	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS33356.1	1727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCACGAGG	NONE	.	.	hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.38)	.	deleterious(0.01)	.	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Val576Ala,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;SF3B1,downstream_gene_variant,,ENST00000468925,;	1819	134	83	SUCCESS
ERBB4	2066	.	GRCh37	2	212543852	212543852	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767818461	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	37	230	0	ENST00000342788.4:c.1547G>T	p.Gly516Val	p.G516V	ENST00000342788	NM_005235.2	516	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2394.1	1547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCAGGT	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF14843,Gene3D:3.80.20.20,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Superfamily_domains:SSF52058,Superfamily_domains:SSF57184	.	.	ENSP00000342235	.	13/28	.	.	.	.	.	.	.	.	rs767818461	13/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0)	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Gly516Val,ENST00000402597,;ERBB4,missense_variant,p.Gly516Val,ENST00000436443,;ERBB4,missense_variant,p.Gly516Val,ENST00000260943,;ERBB4,missense_variant,p.Gly516Val,ENST00000342788,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	1858	230	150	SUCCESS
BARD1	580	.	GRCh37	2	215646146	215646146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	94	0	ENST00000260947.4:c.452G>A	p.Ser151Asn	p.S151N	ENST00000260947	NM_000465.2	151	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS2397.1	452	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACTTCGA	NONE	.	.	hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171	.	.	ENSP00000260947	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000260947	Transcript	.	.	ENSG00000138376	952	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	BARD1_HUMAN	BARD1	HGNC	.	.	UPI000013D11D	SNV	BARD1,missense_variant,p.Ser7Asn,ENST00000449967,;BARD1,missense_variant,p.Ser151Asn,ENST00000260947,;BARD1,intron_variant,,ENST00000421162,;BARD1,non_coding_transcript_exon_variant,,ENST00000471787,;BARD1,3_prime_UTR_variant,,ENST00000455743,;	587	95	38	SUCCESS
TTLL4	9654	.	GRCh37	2	219619007	219619007	+	synonymous_variant	Silent	SNP	T	T	C	rs1360179486	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	27	181	0	ENST00000258398.4:c.3495T>C	p.Ser1165=	p.S1165=	ENST00000258398		1165	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2422.1	3495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTACCCA	NONE	.	.	.	.	.	ENSP00000375951	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000392102	Transcript	.	.	ENSG00000135912	28976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL4_HUMAN	TTLL4	HGNC	C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN	.	UPI000013EDFF	SNV	TTLL4,missense_variant,p.Leu157Pro,ENST00000417855,;TTLL4,missense_variant,p.Leu968Pro,ENST00000457313,;TTLL4,synonymous_variant,p.%3D,ENST00000392102,;TTLL4,synonymous_variant,p.%3D,ENST00000442769,;TTLL4,synonymous_variant,p.%3D,ENST00000258398,;TTLL4,downstream_gene_variant,,ENST00000448224,;TTLL4,downstream_gene_variant,,ENST00000436668,;TTLL4,non_coding_transcript_exon_variant,,ENST00000472527,;TTLL4,downstream_gene_variant,,ENST00000465558,;TTLL4,downstream_gene_variant,,ENST00000467841,;	3835	181	122	SUCCESS
SGPP2	130367	.	GRCh37	2	223423159	223423159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	49	329	0	ENST00000321276.7:c.742C>T	p.Leu248Phe	p.L248F	ENST00000321276	NM_152386.2	248	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2453.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969	.	.	ENSP00000315137	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000321276	Transcript	.	.	ENSG00000163082	19953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.58)	.	SGPP2_HUMAN	SGPP2	HGNC	Q53QF5_HUMAN,Q4ZFX2_HUMAN,Q3B870_HUMAN	.	UPI000004A1E3	SNV	SGPP2,missense_variant,p.Leu248Phe,ENST00000321276,;	828	329	189	SUCCESS
DNER	92737	.	GRCh37	2	230231627	230231627	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	106	1	ENST00000341772.4:c.2064C>A	p.Ser688Arg	p.S688R	ENST00000341772	NM_139072.3	688	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS33390.1	2064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCGCTGTC	NONE	.	.	.	.	.	ENSP00000345229	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.149)	.	deleterious(0.01)	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,missense_variant,p.Ser688Arg,ENST00000341772,;	2199	107	55	SUCCESS
POMC	5443	.	GRCh37	2	25384548	25384548	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs768768839	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	89	0	ENST00000264708.3:c.206C>G	p.Pro69Arg	p.P69R	ENST00000264708		69	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS1717.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGGCTGC	NONE	.	.	hmmpanther:PTHR11416,Pfam_domain:PF08384	.	.	ENSP00000384092	.	3/3	.	.	.	.	.	.	.	.	rs768768839,CD064616	3/3	PASS	ENST00000405623	Transcript	.	.	ENSG00000115138	9201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.059)	.	deleterious(0.04)	.	COLI_HUMAN	POMC	HGNC	Q53WY7_HUMAN,K7R2J5_HUMAN,K7R2I7_HUMAN,K7QZC9_HUMAN,K7QZC2_HUMAN,K7QX47_HUMAN,E9PHK5_HUMAN,A6XND7_HUMAN	.	UPI0000127E5B	SNV	POMC,missense_variant,p.Pro69Arg,ENST00000264708,;POMC,missense_variant,p.Pro69Arg,ENST00000380794,;POMC,missense_variant,p.Pro69Arg,ENST00000449220,;POMC,missense_variant,p.Pro69Arg,ENST00000395826,;POMC,missense_variant,p.Pro69Arg,ENST00000405623,;RP11-509E16.1,downstream_gene_variant,,ENST00000567599,;	662	89	67	SUCCESS
LTBP1	4052	.	GRCh37	2	33500133	33500133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	85	1	ENST00000404816.2:c.2845A>T	p.Ser949Cys	p.S949C	ENST00000404816		949	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS33177.2	2845	RADIA|MUTECT|VARSCANS	.	TGGCCAGTGAG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184	.	.	ENSP00000386043	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Ser623Cys,ENST00000407925,;LTBP1,missense_variant,p.Ser950Cys,ENST00000354476,;LTBP1,missense_variant,p.Ser623Cys,ENST00000418533,;LTBP1,missense_variant,p.Ser624Cys,ENST00000390003,;LTBP1,missense_variant,p.Ser949Cys,ENST00000404816,;LTBP1,missense_variant,p.Ser570Cys,ENST00000402934,;LTBP1,missense_variant,p.Ser570Cys,ENST00000404525,;LTBP1,downstream_gene_variant,,ENST00000468091,;LTBP1,downstream_gene_variant,,ENST00000413303,;LTBP1,upstream_gene_variant,,ENST00000415140,;	3198	87	62	SUCCESS
SRBD1	55133	.	GRCh37	2	45616467	45616467	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	145	0	ENST00000263736.4:c.2970C>T	p.Asp990=	p.D990=	ENST00000263736	NM_018079.4	990	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS1823.1	2970	MUTECT|MUSE	.	ATGAGGTCCAG	NONE	.	.	PROSITE_profiles:PS50126,hmmpanther:PTHR10724:SF1,hmmpanther:PTHR10724,Gene3D:2.40.50.140,SMART_domains:SM00316,Superfamily_domains:SSF50249	.	.	ENSP00000263736	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000263736	Transcript	.	.	ENSG00000068784	25521	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRBD1_HUMAN	SRBD1	HGNC	B7Z6X7_HUMAN	.	UPI000004CC06	SNV	SRBD1,synonymous_variant,p.%3D,ENST00000535761,;SRBD1,synonymous_variant,p.%3D,ENST00000263736,;SRBD1,non_coding_transcript_exon_variant,,ENST00000490133,;	3033	145	84	SUCCESS
MYH15	22989	.	GRCh37	3	108220704	108220704	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs773774527	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	139	0	ENST00000273353.3:c.256-2A>G		p.X86_splice	ENST00000273353	NM_014981.1	86		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43127.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTGCAGA	NONE	.	.	.	.	.	ENSP00000273353	.	.	.	.	.	.	.	.	.	.	rs773774527	.	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	HIGH	3/41	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,splice_acceptor_variant,,ENST00000273353,;	.	139	73	SUCCESS
CD200R1L	344807	.	GRCh37	3	112548190	112548190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	30	210	0	ENST00000398214.1:c.88A>G	p.Asn30Asp	p.N30D	ENST00000398214	NM_001008784.2	30	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS43131.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTTCTGTG	NONE	.	.	hmmpanther:PTHR21462:SF3,hmmpanther:PTHR21462	.	.	ENSP00000381272	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000398214	Transcript	.	.	ENSG00000206531	24665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.44)	.	MO2R2_HUMAN	CD200R1L	HGNC	.	.	UPI000042263C	SNV	CD200R1L,missense_variant,p.Asn9Asp,ENST00000488794,;CD200R1L,missense_variant,p.Asn9Asp,ENST00000448932,;CD200R1L,missense_variant,p.Asn30Asp,ENST00000398214,;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;	314	210	142	SUCCESS
KIAA1407	0	.	GRCh37	3	113720527	113720527	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	51	297	0	ENST00000295878.3:c.2078A>G	p.Gln693Arg	p.Q693R	ENST00000295878	NM_020817.1	693	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS2977.1	2078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTGGGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Gln693Arg,ENST00000295878,;KIAA1407,3_prime_UTR_variant,,ENST00000545063,;KIAA1407,downstream_gene_variant,,ENST00000491000,;QTRTD1,upstream_gene_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000527855,;KIAA1407,downstream_gene_variant,,ENST00000481358,;	2225	297	185	SUCCESS
LIPH	200879	.	GRCh37	3	185270367	185270367	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	38	0	ENST00000296252.4:c.-108C>G		p.*36*	ENST00000296252	NM_139248.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3272.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGAGGTG	NONE	.	.	.	.	.	ENSP00000296252	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000296252	Transcript	.	.	ENSG00000163898	18483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPH_HUMAN	LIPH	HGNC	A2IBA8_HUMAN	.	UPI000003AEB8	SNV	LIPH,5_prime_UTR_variant,,ENST00000296252,;LIPH,upstream_gene_variant,,ENST00000424591,;LIPH,upstream_gene_variant,,ENST00000429510,;	35	38	46	SUCCESS
GADL1	339896	.	GRCh37	3	30827899	30827899	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	96	0	ENST00000282538.5:c.1251-1G>A		p.X417_splice	ENST00000282538	NM_207359.2	417		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2649.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACCTAAAA	NONE	.	.	.	.	.	ENSP00000282538	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282538	Transcript	.	.	ENSG00000144644	27949	.	.	HIGH	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,splice_acceptor_variant,,ENST00000282538,;	.	96	48	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274911	41274911	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs868651538	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	149	0	ENST00000349496.5:c.1161T>A	p.Asn387Lys	p.N387K	ENST00000349496	NM_001904.3	387	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2694.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATCTTTC	SITE|p.N387K|c.1161T>A|4,CODON|p.N387K|c.1161T>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	COSM131449,COSM188063	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asn387Lys,ENST00000349496,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000396185,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000405570,;CTNNB1,missense_variant,p.Asn380Lys,ENST00000453024,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1441	149	92	SUCCESS
CCDC36	0	.	GRCh37	3	49294178	49294178	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1198040115	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	136	0	ENST00000438782.1:c.1248G>A	p.Met416Ile	p.M416I	ENST00000438782		416	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33755.2	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGTTTTT	NONE	.	.	.	.	.	ENSP00000391788	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000438782	Transcript	.	.	ENSG00000173421	27945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.39)	.	CCD36_HUMAN	CCDC36	HGNC	.	.	UPI0000209CD2	SNV	CCDC36,missense_variant,p.Met416Ile,ENST00000438782,;CCDC36,missense_variant,p.Met416Ile,ENST00000296449,;CCDC36,missense_variant,p.Met416Ile,ENST00000452691,;RP11-3B7.1,upstream_gene_variant,,ENST00000440528,;RP11-3B7.7,upstream_gene_variant,,ENST00000604776,;	1484	136	76	SUCCESS
ATXN7	6314	.	GRCh37	3	63898497	63898497	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs199663915	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	56	0	ENST00000295900.6:c.223A>G	p.Met75Val	p.M75V	ENST00000295900	NM_000333.3	75	Atg/Gtg	0	G:0.0116	G:0.0174	.	G:0	.	G	M/V	protein_coding	YES	CCDS54603.1	223	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAATGGCG	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15117:SF2,hmmpanther:PTHR15117	G:0	G:0	ENSP00000381590	G:0	3/14	.	.	.	.	.	.	.	.	rs199663915	3/14	common_in_exac	ENST00000398590	Transcript	.	G:0.0046	ENSG00000163635	10560	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.486)	G:0	deleterious(0.05)	.	ATX7_HUMAN	ATXN7	HGNC	Q9UPD8_HUMAN,Q8TEZ8_HUMAN,H0YAT6_HUMAN	.	UPI00001B07C4	SNV	ATXN7,missense_variant,p.Met75Val,ENST00000398590,;ATXN7,missense_variant,p.Met75Val,ENST00000538065,;ATXN7,missense_variant,p.Met75Val,ENST00000487717,;ATXN7,missense_variant,p.Met75Val,ENST00000295900,;ATXN7,downstream_gene_variant,,ENST00000474513,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;	776	56	45	SUCCESS
TMF1	7110	.	GRCh37	3	69084238	69084238	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	167	0	ENST00000398559.2:c.2180G>T	p.Arg727Leu	p.R727L	ENST00000398559		727	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS43105.1	2180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTACGCTGC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285	.	.	ENSP00000381567	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000398559	Transcript	.	.	ENSG00000144747	11870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	TMF1_HUMAN	TMF1	HGNC	.	.	UPI000013D9A7	SNV	TMF1,missense_variant,p.Arg727Leu,ENST00000398559,;TMF1,missense_variant,p.Arg730Leu,ENST00000543976,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000601511,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000596732,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000599467,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000598783,;CTD-2013N24.2,non_coding_transcript_exon_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,downstream_gene_variant,,ENST00000597366,;CTD-2013N24.2,upstream_gene_variant,,ENST00000596274,;TMF1,missense_variant,p.Arg727Leu,ENST00000488010,;	2397	167	106	SUCCESS
SEC24B	10427	.	GRCh37	4	110384125	110384125	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	44	0	ENST00000265175.5:c.202T>C	p.Ser68Pro	p.S68P	ENST00000265175	NM_006323.2	68	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47124.1	202	MUTECT|MUSE	.	CTCCCTCAGGA	NONE	.	.	.	.	.	ENSP00000265175	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000265175	Transcript	.	.	ENSG00000138802	10704	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	tolerated_low_confidence(0.11)	.	SC24B_HUMAN	SEC24B	HGNC	B4E2E1_HUMAN	.	UPI00004F6ED7	SNV	SEC24B,missense_variant,p.Ser68Pro,ENST00000265175,;SEC24B,missense_variant,p.Ser99Pro,ENST00000504968,;SEC24B,missense_variant,p.Ser68Pro,ENST00000399100,;	257	44	24	SUCCESS
FAT4	79633	.	GRCh37	4	126367520	126367520	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	104	0	ENST00000394329.3:c.7266G>T	p.Leu2422Phe	p.L2422F	ENST00000394329	NM_024582.4	2422	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS3732.3	7266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGTTAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Leu2422Phe,ENST00000394329,;FAT4,missense_variant,p.Leu720Phe,ENST00000335110,;FAT4,non_coding_transcript_exon_variant,,ENST00000509444,;	7279	105	41	SUCCESS
ENAM	10117	.	GRCh37	4	71508497	71508497	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751890482	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	89	0	ENST00000396073.3:c.1354A>G	p.Lys452Glu	p.K452E	ENST00000396073	NM_031889.2	452	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3544.2	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAAAGAAT	NONE	.	.	Pfam_domain:PF15362,hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784	.	.	ENSP00000379383	.	9/9	.	.	.	.	.	.	.	.	rs751890482	9/9	PASS	ENST00000396073	Transcript	1	.	ENSG00000132464	3344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	deleterious(0.01)	.	ENAM_HUMAN	ENAM	HGNC	Q8NFB4_HUMAN	.	UPI000013CE60	SNV	ENAM,missense_variant,p.Lys452Glu,ENST00000396073,;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	1635	89	43	SUCCESS
ALB	213	.	GRCh37	4	74274387	74274388	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	124	0	ENST00000295897.4:c.351dup	p.Gln118ThrfsTer4	p.Q118Tfs*4	ENST00000295897	NM_000477.5	116	gca/gcAa	0	.	.	.	.	.	A	A/AX	protein_coding	YES	CCDS3555.1	347-348	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTGCAAAAC	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.Gln118ThrfsTer4,ENST00000509063,;ALB,frameshift_variant,p.Gln118ThrfsTer4,ENST00000295897,;ALB,frameshift_variant,p.Gln120ThrfsTer4,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	436-437	124	82	SUCCESS
MMRN1	22915	.	GRCh37	4	90856345	90856345	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	23	197	0	ENST00000264790.2:c.1514C>A	p.Ser505Tyr	p.S505Y	ENST00000264790	NM_007351.2	505	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS3635.1	1514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATCCCTCA	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,missense_variant,p.Ser505Tyr,ENST00000394980,;MMRN1,missense_variant,p.Ser247Tyr,ENST00000508372,;MMRN1,missense_variant,p.Ser505Tyr,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	1833	197	122	SUCCESS
SMARCAD1	56916	.	GRCh37	4	95198291	95198291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	112	0	ENST00000354268.4:c.2063G>T	p.Arg688Ile	p.R688I	ENST00000354268		688	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS47101.1	2063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAAGAATGT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF271,Pfam_domain:PF00176,Superfamily_domains:SSF52540	.	.	ENSP00000351947	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000359052	Transcript	1	.	ENSG00000163104	18398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	deleterious(0.01)	.	SMRCD_HUMAN	SMARCAD1	HGNC	.	.	UPI000020B1CF	SNV	SMARCAD1,missense_variant,p.Arg258Ile,ENST00000509418,;SMARCAD1,missense_variant,p.Arg688Ile,ENST00000457823,;SMARCAD1,missense_variant,p.Arg688Ile,ENST00000354268,;SMARCAD1,missense_variant,p.Arg688Ile,ENST00000359052,;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;SMARCAD1,3_prime_UTR_variant,,ENST00000510105,;SMARCAD1,downstream_gene_variant,,ENST00000506089,;SMARCAD1,downstream_gene_variant,,ENST00000514232,;	2237	112	78	SUCCESS
DNAH5	1767	.	GRCh37	5	13794081	13794081	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	104	222	1	ENST00000265104.4:c.7974T>C	p.Asp2658=	p.D2658=	ENST00000265104	NM_001369.2	2658	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3882.1	7974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACATCATC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	48/79	.	.	.	.	.	.	.	.	.	48/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	8079	224	198	SUCCESS
GRIA1	2890	.	GRCh37	5	153149817	153149817	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	59	169	0	ENST00000285900.5:c.2112G>A	p.Met704Ile	p.M704I	ENST00000285900	NM_000827.3	704	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS58987.1	2142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGATTCG	SITE|p.M704I|c.2112G>A|3,SITE|p.M704I|c.2112G>A|3	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	13/16	.	.	.	.	.	.	.	.	COSM1696621,COSM1696620	13/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.042)	.	tolerated(0.57)	1,1	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Met624Ile,ENST00000518142,;GRIA1,missense_variant,p.Met714Ile,ENST00000518783,;GRIA1,missense_variant,p.Met635Ile,ENST00000521843,;GRIA1,missense_variant,p.Met704Ile,ENST00000285900,;GRIA1,missense_variant,p.Met714Ile,ENST00000448073,;GRIA1,missense_variant,p.Met704Ile,ENST00000340592,;	2169	169	114	SUCCESS
CDH18	1016	.	GRCh37	5	19483500	19483500	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755435892	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	53	206	0	ENST00000274170.4:c.1792C>T	p.Arg598Trp	p.R598W	ENST00000274170		598	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3889.1	1792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCGCACAC	NONE	byFrequency	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	.	.	ENSP00000425093	.	14/15	.	.	.	.	.	.	.	.	rs755435892,COSM1066979,COSM1066980	14/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.857)	.	deleterious(0.05)	0,1,1	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Arg598Trp,ENST00000382275,;CDH18,missense_variant,p.Arg598Trp,ENST00000274170,;CDH18,missense_variant,p.Arg598Trp,ENST00000507958,;CDH18,synonymous_variant,p.%3D,ENST00000515257,;CDH18,synonymous_variant,p.%3D,ENST00000506372,;CDH18,synonymous_variant,p.%3D,ENST00000502796,;CDH18,upstream_gene_variant,,ENST00000510297,;	2783	206	281	SUCCESS
RAD1	5810	.	GRCh37	5	34914840	34914840	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	102	163	0	ENST00000341754.4:c.158T>C	p.Val53Ala	p.V53A	ENST00000341754		53	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3905.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCACTGTT	NONE	.	.	Prints_domain:PR01246,Prints_domain:PR01245,Gene3D:3.70.10.10,Pfam_domain:PF02144,hmmpanther:PTHR10870	.	.	ENSP00000371469	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000382038	Transcript	.	.	ENSG00000113456	9806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.626)	.	tolerated(0.09)	.	RAD1_HUMAN	RAD1	HGNC	.	.	UPI000003159B	SNV	RAD1,missense_variant,p.Val53Ala,ENST00000341754,;RAD1,missense_variant,p.Val53Ala,ENST00000382038,;BRIX1,upstream_gene_variant,,ENST00000336767,;BRIX1,upstream_gene_variant,,ENST00000506023,;RAD1,missense_variant,p.Val53Ala,ENST00000511456,;RAD1,missense_variant,p.Val53Ala,ENST00000325577,;RAD1,missense_variant,p.Val53Ala,ENST00000513914,;RAD1,non_coding_transcript_exon_variant,,ENST00000506311,;RAD1,non_coding_transcript_exon_variant,,ENST00000512192,;BRIX1,upstream_gene_variant,,ENST00000510834,;BRIX1,upstream_gene_variant,,ENST00000515798,;BRIX1,upstream_gene_variant,,ENST00000510960,;	1578	163	164	SUCCESS
C5orf42	0	.	GRCh37	5	37226698	37226698	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	36	132	0	ENST00000425232.2:c.1999A>T	p.Thr667Ser	p.T667S	ENST00000425232	NM_023073.3	667	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS34146.2	1999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTATTTG	NONE	.	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	.	ENSP00000389014	.	12/52	.	.	.	.	.	.	.	.	.	12/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,missense_variant,p.Thr667Ser,ENST00000508244,;C5orf42,missense_variant,p.Thr667Ser,ENST00000425232,;C5orf42,5_prime_UTR_variant,,ENST00000274258,;	2230	132	166	SUCCESS
MAP1B	4131	.	GRCh37	5	71489897	71489897	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775351695	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	138	0	ENST00000296755.7:c.715G>A	p.Val239Ile	p.V239I	ENST00000296755	NM_005909.3	239	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS4012.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGTCCCA	NONE	byFrequency	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	rs775351695	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Val256Ile,ENST00000511641,;MAP1B,missense_variant,p.Val113Ile,ENST00000504492,;MAP1B,missense_variant,p.Val239Ile,ENST00000296755,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;	1013	138	76	SUCCESS
GPR98	0	.	GRCh37	5	89989829	89989829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	155	0	ENST00000405460.2:c.7256C>A	p.Pro2419His	p.P2419H	ENST00000405460	NM_032119.3	2419	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS47246.1	7256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCTGACC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	33/90	.	.	.	.	.	.	.	.	.	33/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Pro2419His,ENST00000405460,;GPR98,upstream_gene_variant,,ENST00000509621,;	7352	155	97	SUCCESS
ARG1	383	.	GRCh37	6	131904974	131904974	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	38	78	0	ENST00000368087.3:c.895A>G	p.Ile299Val	p.I299V	ENST00000368087		299	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS59038.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAATAACC	NONE	.	.	PROSITE_profiles:PS51409,hmmpanther:PTHR11358:SF17,hmmpanther:PTHR11358,Pfam_domain:PF00491,Gene3D:3.40.800.10,TIGRFAM_domain:TIGR01229,PIRSF_domain:PIRSF036979,Superfamily_domains:SSF52768	.	.	ENSP00000349446	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000356962	Transcript	.	.	ENSG00000118520	663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ARGI1_HUMAN	ARG1	HGNC	.	.	UPI000013CA10	SNV	ARG1,missense_variant,p.Ile299Val,ENST00000368087,;ARG1,missense_variant,p.Ile307Val,ENST00000356962,;MED23,intron_variant,,ENST00000354577,;MED23,downstream_gene_variant,,ENST00000545957,;MED23,downstream_gene_variant,,ENST00000368068,;MED23,downstream_gene_variant,,ENST00000403834,;MED23,downstream_gene_variant,,ENST00000368060,;MED23,downstream_gene_variant,,ENST00000368058,;MED23,downstream_gene_variant,,ENST00000479213,;ARG1,downstream_gene_variant,,ENST00000484820,;ARG1,downstream_gene_variant,,ENST00000275196,;ARG1,downstream_gene_variant,,ENST00000498260,;ARG1,downstream_gene_variant,,ENST00000469293,;	977	78	67	SUCCESS
PDK4	5166	.	GRCh37	7	95222151	95222151	+	synonymous_variant	Silent	SNP	G	G	A	rs769225726	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	179	0	ENST00000005178.5:c.450C>T	p.Val150=	p.V150=	ENST00000005178	NM_002612.3	150	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5643.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGACTGG	NONE	.	.	Superfamily_domains:SSF69012,Pfam_domain:PF10436,Gene3D:1.20.140.20,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF17	.	.	ENSP00000005178	.	4/11	.	.	.	.	.	.	.	.	rs769225726	4/11	PASS	ENST00000005178	Transcript	.	.	ENSG00000004799	8812	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDK4_HUMAN	PDK4	HGNC	B3KUX1_HUMAN,B3KU25_HUMAN,A4D1H4_HUMAN	.	UPI000000D984	SNV	PDK4,synonymous_variant,p.%3D,ENST00000005178,;AC002451.3,upstream_gene_variant,,ENST00000416502,;AC002451.3,upstream_gene_variant,,ENST00000432265,;PDK4,upstream_gene_variant,,ENST00000473796,;PDK4,upstream_gene_variant,,ENST00000498190,;PDK4,downstream_gene_variant,,ENST00000473301,;	648	179	123	SUCCESS
SLC39A4	55630	.	GRCh37	8	145641255	145641255	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781929804	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	17	0	ENST00000301305.3:c.413C>T	p.Pro138Leu	p.P138L	ENST00000301305	NM_130849.3	138	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6424.1	413	MUTECT|MUSE	.	GGCCCGGGGTC	NONE	byFrequency	.	hmmpanther:PTHR12191:SF11,hmmpanther:PTHR12191	.	.	ENSP00000301305	.	2/12	.	.	.	.	.	.	.	.	rs781929804	2/12	PASS	ENST00000301305	Transcript	1	.	ENSG00000147804	17129	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.53)	.	S39A4_HUMAN	SLC39A4	HGNC	Q9NX22_HUMAN	.	UPI00001AED01	SNV	SLC39A4,missense_variant,p.Pro113Leu,ENST00000276833,;SLC39A4,missense_variant,p.Pro138Leu,ENST00000301305,;SLC39A4,intron_variant,,ENST00000526658,;SLC39A4,upstream_gene_variant,,ENST00000532718,;SLC39A4,upstream_gene_variant,,ENST00000527148,;SLC39A4,upstream_gene_variant,,ENST00000531013,;SLC39A4,upstream_gene_variant,,ENST00000530807,;SLC39A4,upstream_gene_variant,,ENST00000531789,;SLC39A4,upstream_gene_variant,,ENST00000529462,;	519	17	96	SUCCESS
ZBTB10	65986	.	GRCh37	8	81412172	81412172	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	64	0	ENST00000430430.1:c.1416A>G	p.Pro472=	p.P472=	ENST00000430430		472	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS47880.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAGAGTC	NONE	.	.	hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27	.	.	ENSP00000387462	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000430430	Transcript	.	.	ENSG00000205189	30953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT10_HUMAN	ZBTB10	HGNC	.	.	UPI0000E5AEF3	SNV	ZBTB10,synonymous_variant,p.%3D,ENST00000430430,;ZBTB10,synonymous_variant,p.%3D,ENST00000426744,;ZBTB10,synonymous_variant,p.%3D,ENST00000455036,;ZBTB10,synonymous_variant,p.%3D,ENST00000379091,;	2195	64	72	SUCCESS
ZCCHC7	84186	.	GRCh37	9	37302184	37302184	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	68	0	ENST00000336755.5:c.611-1G>A		p.X204_splice	ENST00000336755	NM_032226.2	204		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6608.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAGGAGAA	NONE	.	.	.	.	.	ENSP00000337839	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336755	Transcript	.	.	ENSG00000147905	26209	.	.	HIGH	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC7_HUMAN	ZCCHC7	HGNC	B4E024_HUMAN	.	UPI0000036027	SNV	ZCCHC7,splice_acceptor_variant,,ENST00000534928,;ZCCHC7,splice_acceptor_variant,,ENST00000336755,;ZCCHC7,splice_acceptor_variant,,ENST00000488607,;ZCCHC7,splice_acceptor_variant,,ENST00000461038,;ZCCHC7,splice_acceptor_variant,,ENST00000463625,;	.	68	35	SUCCESS
FAM120A	23196	.	GRCh37	9	96318785	96318785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	164	0	ENST00000277165.6:c.2396G>T	p.Trp799Leu	p.W799L	ENST00000277165	NM_014612.3	799	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS6706.1	2396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGGATGT	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14	.	.	ENSP00000277165	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000277165	Transcript	.	.	ENSG00000048828	13247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	F120A_HUMAN	FAM120A	HGNC	.	.	UPI0000211A83	SNV	FAM120A,missense_variant,p.Trp221Leu,ENST00000427765,;FAM120A,missense_variant,p.Trp799Leu,ENST00000340893,;FAM120A,missense_variant,p.Trp827Leu,ENST00000333936,;FAM120A,missense_variant,p.Trp799Leu,ENST00000277165,;	2590	164	120	SUCCESS
ZNF169	169841	.	GRCh37	9	97063227	97063227	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1182374727	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	96	0	ENST00000395395.2:c.1387T>C	p.Cys463Arg	p.C463R	ENST00000395395	NM_194320.2	463	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS6709.2	1387	RADIA|MUTECT|MUSE	.	CTGATTGTGGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF25,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000378792	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000395395	Transcript	.	.	ENSG00000175787	12957	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN169_HUMAN	ZNF169	HGNC	.	.	UPI00001C1EC1	SNV	ZNF169,missense_variant,p.Cys463Arg,ENST00000395395,;ZNF169,3_prime_UTR_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000375354,;	1477	96	72	SUCCESS
ZNF169	169841	.	GRCh37	9	97063234	97063234	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs769518931	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	107	0	ENST00000395395.2:c.1394G>C	p.Arg465Pro	p.R465P	ENST00000395395	NM_194320.2	465	cGt/cCt	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS6709.2	1394	RADIA|MUTECT|MUSE	.	TGGGCGTGGCT	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF25,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000378792	.	5/5	.	.	.	.	.	.	.	.	rs769518931	5/5	PASS	ENST00000395395	Transcript	.	.	ENSG00000175787	12957	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN169_HUMAN	ZNF169	HGNC	.	.	UPI00001C1EC1	SNV	ZNF169,missense_variant,p.Arg465Pro,ENST00000395395,;ZNF169,3_prime_UTR_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000375354,;	1484	107	76	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4968507	4968507	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	54	0	ENST00000400457.2:c.2825A>G	p.Asp942Gly	p.D942G	ENST00000400457	NM_032973.2	942	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS14777.1	2888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGACAGCC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08374	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(1)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Asp963Gly,ENST00000215473,;PCDH11Y,missense_variant,p.Asp952Gly,ENST00000333703,;PCDH11Y,missense_variant,p.Asp942Gly,ENST00000400457,;PCDH11Y,missense_variant,p.Asp963Gly,ENST00000362095,;	3622	54	41	SUCCESS
ATRNL1	26033	.	GRCh37	10	117075032	117075032	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	62	0	ENST00000355044.3:c.2823A>T	p.Gln941His	p.Q941H	ENST00000355044	NM_207303.2	941	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7592.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAAAATTG	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0.02)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Gln71His,ENST00000526373,;ATRNL1,missense_variant,p.Gln38His,ENST00000423111,;ATRNL1,missense_variant,p.Gln941His,ENST00000355044,;ATRNL1,5_prime_UTR_variant,,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	2949	62	68	SUCCESS
DHX32	55760	.	GRCh37	10	127569466	127569466	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	23	0	ENST00000284690.3:c.-73T>C		p.*25*	ENST00000284690	NM_018180.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGGGCT	NONE	.	.	.	.	.	ENSP00000284690	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,5_prime_UTR_variant,,ENST00000415732,;DHX32,5_prime_UTR_variant,,ENST00000284688,;DHX32,5_prime_UTR_variant,,ENST00000284690,;	419	23	30	SUCCESS
SLIT1	6585	.	GRCh37	10	98761962	98761962	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	41	0	ENST00000266058.4:c.4319C>T	p.Ala1440Val	p.A1440V	ENST00000266058	NM_003061.2	1440	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7453.1	4319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTGCCCCC	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00274	.	.	ENSP00000266058	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.15)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Ala1440Val,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;SLIT1,intron_variant,,ENST00000371070,;SLIT1,upstream_gene_variant,,ENST00000494968,;	4565	41	33	SUCCESS
NLRX1	79671	.	GRCh37	11	119044251	119044251	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs548995927	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	38	0	ENST00000292199.2:c.293G>A	p.Arg98His	p.R98H	ENST00000292199	NM_024618.2	98	cGc/cAc	0	.	T:0.0008	.	T:0	.	A	R/H	protein_coding	YES	CCDS8416.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGCCAGT	NONE	by1000G	.	hmmpanther:PTHR24106:SF17,hmmpanther:PTHR24106	T:0	.	ENSP00000387334	T:0	5/10	.	.	.	.	.	.	.	.	rs548995927,COSM923778,COSM923779	5/10	PASS	ENST00000409109	Transcript	.	T:0.0002	ENSG00000160703	29890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.025)	T:0	deleterious(0.01)	0,1,1	NLRX1_HUMAN	NLRX1	HGNC	C9JQE9_HUMAN,C9JLK8_HUMAN,C9J0R6_HUMAN,B7Z889_HUMAN	.	UPI0000161217	SNV	NLRX1,missense_variant,p.Arg98His,ENST00000409109,;NLRX1,missense_variant,p.Arg98His,ENST00000292199,;NLRX1,missense_variant,p.Arg98His,ENST00000409991,;NLRX1,missense_variant,p.Arg98His,ENST00000409265,;NLRX1,missense_variant,p.Arg98His,ENST00000454811,;NLRX1,missense_variant,p.Arg98His,ENST00000422249,;NLRX1,missense_variant,p.Arg98His,ENST00000525863,;NLRX1,missense_variant,p.Arg98His,ENST00000449394,;NLRX1,non_coding_transcript_exon_variant,,ENST00000474751,;NLRX1,non_coding_transcript_exon_variant,,ENST00000468765,;NLRX1,non_coding_transcript_exon_variant,,ENST00000482180,;NLRX1,upstream_gene_variant,,ENST00000469103,;NLRX1,non_coding_transcript_exon_variant,,ENST00000481860,;NLRX1,non_coding_transcript_exon_variant,,ENST00000524562,;	880	38	38	SUCCESS
MYBPC3	4607	.	GRCh37	11	47368980	47368980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	53	0	ENST00000545968.1:c.902A>G	p.Lys301Arg	p.K301R	ENST00000545968	NM_000256.3	301	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS53621.1	902	MUTECT|MUSE|VARSCANS	.	ACCTCTTTTTC	NONE	.	.	hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF52	.	.	ENSP00000442795	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000545968	Transcript	.	.	ENSG00000134571	7551	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.18)	.	MYPC3_HUMAN	MYBPC3	HGNC	B6D426_HUMAN	.	UPI000006EEAA	SNV	MYBPC3,missense_variant,p.Lys301Arg,ENST00000545968,;MYBPC3,missense_variant,p.Lys301Arg,ENST00000256993,;MYBPC3,missense_variant,p.Lys301Arg,ENST00000399249,;MYBPC3,missense_variant,p.Lys301Arg,ENST00000544791,;	957	53	47	SUCCESS
BSCL2	26580	.	GRCh37	11	62458597	62458597	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144725547	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	93	0	ENST00000403550.1:c.830G>A	p.Arg277Lys	p.R277K	ENST00000403550		277	aGa/aAa	0	T:0	.	.	.	.	T	R/K	protein_coding	YES	CCDS44627.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCTTTTT	NONE	byCluster	.	hmmpanther:PTHR21212:SF0,hmmpanther:PTHR21212	.	T:0.0001	ENSP00000414002	.	9/12	.	.	.	.	.	.	.	.	rs144725547	9/12	PASS	ENST00000433053	Transcript	.	.	ENSG00000168000	15832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.63)	.	BSCL2_HUMAN	BSCL2	HGNC	F8W7Q8_HUMAN,E9PSB5_HUMAN,E9PRU2_HUMAN,E9PPN5_HUMAN,E9PJS9_HUMAN,E9PJK0_HUMAN,E9PIU3_HUMAN	.	UPI0000140040	SNV	BSCL2,missense_variant,p.Arg277Lys,ENST00000421906,;BSCL2,missense_variant,p.Arg341Lys,ENST00000433053,;BSCL2,missense_variant,p.Arg277Lys,ENST00000403550,;BSCL2,missense_variant,p.Arg341Lys,ENST00000360796,;BSCL2,missense_variant,p.Arg277Lys,ENST00000407022,;BSCL2,missense_variant,p.Arg341Lys,ENST00000405837,;BSCL2,missense_variant,p.Arg26Lys,ENST00000449636,;BSCL2,missense_variant,p.Glu230Lys,ENST00000278893,;BSCL2,intron_variant,,ENST00000403098,;BSCL2,downstream_gene_variant,,ENST00000524862,;LRRN4CL,upstream_gene_variant,,ENST00000317449,;BSCL2,downstream_gene_variant,,ENST00000531524,;BSCL2,downstream_gene_variant,,ENST00000533982,;BSCL2,downstream_gene_variant,,ENST00000525000,;BSCL2,downstream_gene_variant,,ENST00000448568,;BSCL2,downstream_gene_variant,,ENST00000537604,;BSCL2,downstream_gene_variant,,ENST00000526426,;BSCL2,downstream_gene_variant,,ENST00000412351,;BSCL2,downstream_gene_variant,,ENST00000530900,;BSCL2,downstream_gene_variant,,ENST00000532115,;BSCL2,3_prime_UTR_variant,,ENST00000301781,;HNRNPUL2-BSCL2,3_prime_UTR_variant,,ENST00000403734,;BSCL2,non_coding_transcript_exon_variant,,ENST00000463679,;BSCL2,non_coding_transcript_exon_variant,,ENST00000470529,;BSCL2,non_coding_transcript_exon_variant,,ENST00000468505,;	1579	93	70	SUCCESS
PYGM	5837	.	GRCh37	11	64522286	64522286	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746412712	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	35	0	ENST00000164139.3:c.878G>A	p.Arg293Gln	p.R293Q	ENST00000164139	NM_005609.2	293	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8079.1	878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGCAGC	NONE	byFrequency	.	Superfamily_domains:SSF53756,PIRSF_domain:PIRSF000460,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,Gene3D:3.40.50.2000,hmmpanther:PTHR11468:SF1,hmmpanther:PTHR11468	.	.	ENSP00000164139	.	8/20	.	.	.	.	.	.	.	.	rs746412712	8/20	PASS	ENST00000164139	Transcript	.	.	ENSG00000068976	9726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	PYGM_HUMAN	PYGM	HGNC	.	.	UPI000013C5AC	SNV	PYGM,missense_variant,p.Arg293Gln,ENST00000164139,;PYGM,missense_variant,p.Arg205Gln,ENST00000377432,;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,upstream_gene_variant,,ENST00000460413,;	1277	35	27	SUCCESS
BATF2	116071	.	GRCh37	11	64757247	64757247	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374070737	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	59	0	ENST00000301887.4:c.179G>T	p.Arg60Leu	p.R60L	ENST00000301887	NM_138456.3	60	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS8087.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCGCAGG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR23351:SF11,hmmpanther:PTHR23351,Pfam_domain:PF00170,Gene3D:1.20.5.170,SMART_domains:SM00338,Superfamily_domains:SSF57959	.	T:0.0001	ENSP00000301887	.	3/3	.	.	.	.	.	.	.	.	rs374070737	3/3	PASS	ENST00000301887	Transcript	.	.	ENSG00000168062	25163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	BATF2_HUMAN	BATF2	HGNC	.	.	UPI000006E749	SNV	BATF2,missense_variant,p.Arg60Leu,ENST00000301887,;BATF2,missense_variant,p.Arg36Leu,ENST00000527716,;BATF2,missense_variant,p.Arg59Leu,ENST00000534177,;BATF2,5_prime_UTR_variant,,ENST00000435842,;BATF2,non_coding_transcript_exon_variant,,ENST00000527454,;	310	59	56	SUCCESS
SDS	10993	.	GRCh37	12	113834987	113834988	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	75	0	ENST00000257549.4:c.635_636insA	p.Leu213ProfsTer32	p.L213Pfs*32	ENST00000257549	NM_006843.2	212	tcc/tcAc	0	.	.	.	.	.	T	S/SX	protein_coding	YES	CCDS9169.1	635-636	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAGGGAGAC	NONE	.	.	hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF73,Pfam_domain:PF00291,Gene3D:3.40.50.1100,Superfamily_domains:SSF53686	.	.	ENSP00000257549	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000257549	Transcript	.	.	ENSG00000135094	10691	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDHL_HUMAN	SDS	HGNC	.	.	UPI000013CF6B	insertion	SDS,frameshift_variant,p.Leu213ProfsTer32,ENST00000257549,;SDS,downstream_gene_variant,,ENST00000547342,;SDS,downstream_gene_variant,,ENST00000552280,;SDS,non_coding_transcript_exon_variant,,ENST00000553112,;SDS,downstream_gene_variant,,ENST00000546785,;SDS,downstream_gene_variant,,ENST00000546639,;	758-759	75	72	SUCCESS
NCOR2	9612	.	GRCh37	12	124835161	124835162	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	38	0	ENST00000405201.1:c.3815dup	p.Lys1273GlnfsTer9	p.K1273Qfs*9	ENST00000405201		1272	ggc/ggGc	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS41858.2	3815-3816	VARSCANI*|PINDEL	.	TTCTTGCCTTC	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	28/47	.	.	.	.	.	.	.	.	.	28/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	insertion	NCOR2,frameshift_variant,p.Lys1280GlnfsTer9,ENST00000356219,;NCOR2,frameshift_variant,p.Lys1281GlnfsTer9,ENST00000458234,;NCOR2,frameshift_variant,p.Lys834GlnfsTer9,ENST00000404121,;NCOR2,frameshift_variant,p.Lys1263GlnfsTer9,ENST00000429285,;NCOR2,frameshift_variant,p.Lys1273GlnfsTer9,ENST00000405201,;NCOR2,frameshift_variant,p.Lys1263GlnfsTer9,ENST00000404621,;NCOR2,frameshift_variant,p.Lys1264GlnfsTer9,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000536195,;NCOR2,upstream_gene_variant,,ENST00000473999,;NCOR2,downstream_gene_variant,,ENST00000493859,;	3816-3817	38	39	SUCCESS
PPM1H	57460	.	GRCh37	12	63195713	63195713	+	synonymous_variant	Silent	SNP	G	G	A	rs201542231	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	20	0	ENST00000228705.6:c.639C>T	p.Arg213=	p.R213=	ENST00000228705	NM_020700.1	213	cgC/cgT	0	A:0	A:0	.	A:0	.	A	R	protein_coding	YES	CCDS44934.1	639	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCTCCGCGCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,SMART_domains:SM00332	A:0.001	A:0.0001	ENSP00000228705	A:0	3/10	.	.	.	.	.	.	.	.	rs201542231	3/10	PASS	ENST00000228705	Transcript	.	A:0.0002	ENSG00000111110	18583	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,synonymous_variant,p.%3D,ENST00000228705,;PPM1H,non_coding_transcript_exon_variant,,ENST00000548414,;PPM1H,downstream_gene_variant,,ENST00000547857,;	940	20	13	SUCCESS
FAM90A1	55138	.	GRCh37	12	8375287	8375287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	22	0	ENST00000307435.6:c.526A>G	p.Arg176Gly	p.R176G	ENST00000307435		176	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS31738.1	526	RADIA|MUTECT|VARSCANS	.	GCCCCTGTCAG	NONE	.	.	hmmpanther:PTHR16035:SF8,hmmpanther:PTHR16035	.	.	ENSP00000445418	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000538603	Transcript	.	.	ENSG00000171847	25526	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.796)	.	tolerated(0.14)	.	F90A1_HUMAN	FAM90A1	HGNC	.	.	UPI000013EC10	SNV	FAM90A1,missense_variant,p.Arg176Gly,ENST00000538603,;FAM90A1,missense_variant,p.Arg176Gly,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	1085	22	34	SUCCESS
KRT19P2	160313	.	GRCh37	12	95228694	95228694	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	31	0	ENST00000405395.2:n.465C>T		p.*155*	ENST00000405395				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCGTGAA	NONE	.	405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000385303	Transcript	.	.	ENSG00000208038	32081	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR492	HGNC	.	.	.	SNV	MIR492,downstream_gene_variant,,ENST00000385303,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000405395,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000557173,;	.	31	36	SUCCESS
SPATA13	221178	.	GRCh37	13	24798144	24798144	+	intron_variant	Intron	SNP	C	C	T	rs1340205836	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	26	0	ENST00000382095.4:c.-222-25471C>T		p.*74*	ENST00000382095	NM_153023.2	359		0	.	.	.	.	.	T	D	protein_coding	YES	CCDS53857.1	1077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGACGACTA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103	.	.	ENSP00000398560	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,synonymous_variant,p.%3D,ENST00000382108,;SPATA13,synonymous_variant,p.%3D,ENST00000424834,;SPATA13,intron_variant,,ENST00000382095,;SPATA13,upstream_gene_variant,,ENST00000474317,;RP11-307N16.6,synonymous_variant,p.%3D,ENST00000382141,;SPATA13,non_coding_transcript_exon_variant,,ENST00000466831,;	1550	26	33	SUCCESS
NFATC4	4776	.	GRCh37	14	24843036	24843036	+	synonymous_variant	Silent	SNP	C	C	A	rs780390718	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	66	1	ENST00000250373.4:c.1695C>A	p.Val565=	p.V565=	ENST00000250373	NM_004554.4	565	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45089.1	1884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCGTCTC	NONE	byFrequency	.	PROSITE_profiles:PS50254,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9,Gene3D:2.60.40.340,Pfam_domain:PF00554,Superfamily_domains:SSF49417,Prints_domain:PR01789	.	.	ENSP00000388910	.	6/10	.	.	.	.	.	.	.	.	rs780390718	6/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,synonymous_variant,p.%3D,ENST00000554473,;NFATC4,synonymous_variant,p.%3D,ENST00000555590,;NFATC4,synonymous_variant,p.%3D,ENST00000554661,;NFATC4,synonymous_variant,p.%3D,ENST00000555453,;NFATC4,synonymous_variant,p.%3D,ENST00000553708,;NFATC4,synonymous_variant,p.%3D,ENST00000413692,;NFATC4,synonymous_variant,p.%3D,ENST00000556279,;NFATC4,synonymous_variant,p.%3D,ENST00000553879,;NFATC4,synonymous_variant,p.%3D,ENST00000424781,;NFATC4,synonymous_variant,p.%3D,ENST00000554050,;NFATC4,synonymous_variant,p.%3D,ENST00000422617,;NFATC4,synonymous_variant,p.%3D,ENST00000250373,;NFATC4,synonymous_variant,p.%3D,ENST00000553469,;NFATC4,synonymous_variant,p.%3D,ENST00000556169,;NFATC4,synonymous_variant,p.%3D,ENST00000539237,;NFATC4,synonymous_variant,p.%3D,ENST00000555167,;NFATC4,synonymous_variant,p.%3D,ENST00000557451,;NFATC4,synonymous_variant,p.%3D,ENST00000554591,;NFATC4,synonymous_variant,p.%3D,ENST00000556759,;NFATC4,synonymous_variant,p.%3D,ENST00000554966,;NFATC4,synonymous_variant,p.%3D,ENST00000554344,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,upstream_gene_variant,,ENST00000555821,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000557028,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;	2028	67	53	SUCCESS
PCNX	0	.	GRCh37	14	71443876	71443876	+	synonymous_variant	Silent	SNP	T	T	C	rs141883113	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	5	130	0	ENST00000304743.2:c.822T>C	p.Tyr274=	p.Y274=	ENST00000304743	NM_014982.2	274	taT/taC	0	.	C:0	.	C:0	.	C	Y	protein_coding	YES	CCDS9806.1	822	MUTECT|MUSE	.	TCTTATAGAAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	C:0.006	.	ENSP00000304192	C:0	6/36	.	.	.	.	.	.	.	.	rs141883113	6/36	common_in_exac	ENST00000304743	Transcript	.	C:0.0012	ENSG00000100731	19740	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,synonymous_variant,p.%3D,ENST00000238570,;PCNX,synonymous_variant,p.%3D,ENST00000439984,;PCNX,synonymous_variant,p.%3D,ENST00000304743,;PCNX,non_coding_transcript_exon_variant,,ENST00000553272,;PCNX,downstream_gene_variant,,ENST00000553428,;PCNX,non_coding_transcript_exon_variant,,ENST00000554879,;PCNX,upstream_gene_variant,,ENST00000556846,;	1268	130	116	SUCCESS
SERPINA3	12	.	GRCh37	14	95080847	95080847	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	48	0	ENST00000393080.4:c.69C>T	p.Cys23=	p.C23=	ENST00000393080		23	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS32150.1	69	MUTECT|MUSE	.	CTCTGCCACCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11461:SF145,hmmpanther:PTHR11461,Superfamily_domains:SSF56574	.	.	ENSP00000450540	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000467132	Transcript	1	.	ENSG00000196136	16	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AACT_HUMAN	SERPINA3	HGNC	G3V5I3_HUMAN,G3V3A0_HUMAN	.	UPI000012509B	SNV	SERPINA3,synonymous_variant,p.%3D,ENST00000393078,;SERPINA3,synonymous_variant,p.%3D,ENST00000467132,;SERPINA3,synonymous_variant,p.%3D,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,missense_variant,p.Pro45Ser,ENST00000555820,;SERPINA3,synonymous_variant,p.%3D,ENST00000556968,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;	1217	48	34	SUCCESS
SLC12A6	9990	.	GRCh37	15	34628887	34628887	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	42	0	ENST00000354181.3:c.-6A>C		p.*2*	ENST00000354181				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58352.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTCTTTT	NONE	.	.	.	.	.	ENSP00000346112	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000354181	Transcript	1	.	ENSG00000140199	10914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S12A6_HUMAN	SLC12A6	HGNC	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN	.	UPI0000135427	SNV	SLC12A6,splice_region_variant,,ENST00000558667,;SLC12A6,5_prime_UTR_variant,,ENST00000560611,;SLC12A6,5_prime_UTR_variant,,ENST00000397707,;SLC12A6,5_prime_UTR_variant,,ENST00000559236,;SLC12A6,5_prime_UTR_variant,,ENST00000354181,;SLC12A6,intron_variant,,ENST00000458406,;SLC12A6,intron_variant,,ENST00000561120,;SLC12A6,intron_variant,,ENST00000558589,;SLC12A6,intron_variant,,ENST00000397702,;SLC12A6,intron_variant,,ENST00000559484,;SLC12A6,5_prime_UTR_variant,,ENST00000561080,;SLC12A6,5_prime_UTR_variant,,ENST00000559664,;SLC12A6,intron_variant,,ENST00000559523,;	488	42	50	SUCCESS
FANCI	55215	.	GRCh37	15	89844660	89844660	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	84	0	ENST00000310775.7:c.2993C>T	p.Pro998Leu	p.P998L	ENST00000310775	NM_001113378.1	998	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45346.1	2993	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCCTCCT	NONE	.	.	hmmpanther:PTHR21818,hmmpanther:PTHR21818:SF0,Pfam_domain:PF14677	.	.	ENSP00000310842	.	27/38	.	.	.	.	.	.	.	.	.	27/38	PASS	ENST00000310775	Transcript	1	.	ENSG00000140525	25568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	FANCI_HUMAN	FANCI	HGNC	H3BT54_HUMAN,H3BS60_HUMAN,H3BQE2_HUMAN	.	UPI00001FEB1D	SNV	FANCI,missense_variant,p.Pro938Leu,ENST00000300027,;FANCI,missense_variant,p.Pro765Leu,ENST00000561894,;FANCI,missense_variant,p.Pro998Leu,ENST00000310775,;FANCI,intron_variant,,ENST00000565522,;FANCI,missense_variant,p.Pro938Leu,ENST00000447611,;FANCI,non_coding_transcript_exon_variant,,ENST00000566895,;	3079	84	92	SUCCESS
MMP2	4313	.	GRCh37	16	55517934	55517934	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	69	0	ENST00000219070.4:c.387T>A	p.Ile129=	p.I129=	ENST00000219070	NM_004530.4	129	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10752.1	387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATTGGCTA	NONE	.	.	hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	.	ENSP00000219070	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000219070	Transcript	.	.	ENSG00000087245	7166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP2_HUMAN	MMP2	HGNC	Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN	.	UPI00000422C4	SNV	MMP2,synonymous_variant,p.%3D,ENST00000543485,;MMP2,synonymous_variant,p.%3D,ENST00000568715,;MMP2,synonymous_variant,p.%3D,ENST00000570308,;MMP2,synonymous_variant,p.%3D,ENST00000219070,;MMP2,synonymous_variant,p.%3D,ENST00000564864,;MMP2,synonymous_variant,p.%3D,ENST00000437642,;MMP2,upstream_gene_variant,,ENST00000570283,;	896	69	76	SUCCESS
ANKFY1	51479	.	GRCh37	17	4098292	4098292	+	synonymous_variant	Silent	SNP	G	G	A	rs745878528	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	47	0	ENST00000341657.4:c.1353C>T	p.Asp451=	p.D451=	ENST00000341657	NM_016376.3	451	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS58502.1	1479	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GGTGCGTCTGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	10/25	.	.	.	.	.	.	.	.	rs745878528	10/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,synonymous_variant,p.%3D,ENST00000433651,;ANKFY1,synonymous_variant,p.%3D,ENST00000341657,;ANKFY1,synonymous_variant,p.%3D,ENST00000574367,;ANKFY1,synonymous_variant,p.%3D,ENST00000570535,;Y_RNA,downstream_gene_variant,,ENST00000384660,;ANKFY1,upstream_gene_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;ANKFY1,downstream_gene_variant,,ENST00000573250,;	1596	47	58	SUCCESS
CHRNE	1145	.	GRCh37	17	4802334	4802334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	17	0	ENST00000293780.4:c.1288G>T	p.Val430Leu	p.V430L	ENST00000293780	NM_000080.3	430	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS11058.1	1288	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGAAGT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF59,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000293780	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000293780	Transcript	.	.	ENSG00000108556	1966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	deleterious(0.05)	.	ACHE_HUMAN	CHRNE	HGNC	Q8N731_HUMAN	.	UPI0000125262	SNV	CHRNE,missense_variant,p.Val430Leu,ENST00000293780,;C17orf107,upstream_gene_variant,,ENST00000521575,;C17orf107,upstream_gene_variant,,ENST00000381365,;MINK1,downstream_gene_variant,,ENST00000355280,;MINK1,downstream_gene_variant,,ENST00000347992,;MINK1,downstream_gene_variant,,ENST00000576037,;MINK1,downstream_gene_variant,,ENST00000453408,;CHRNE,downstream_gene_variant,,ENST00000575637,;CHRNE,non_coding_transcript_exon_variant,,ENST00000572438,;MINK1,downstream_gene_variant,,ENST00000575511,;MINK1,downstream_gene_variant,,ENST00000572330,;MINK1,downstream_gene_variant,,ENST00000574453,;MINK1,downstream_gene_variant,,ENST00000571207,;MINK1,downstream_gene_variant,,ENST00000572304,;MINK1,downstream_gene_variant,,ENST00000574871,;	1299	17	24	SUCCESS
KIF1C	10749	.	GRCh37	17	4923807	4923807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	48	0	ENST00000320785.5:c.1771A>G	p.Lys591Glu	p.K591E	ENST00000320785	NM_006612.5	591	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11065.1	1771	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCAAGAAC	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000320821	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000320785	Transcript	.	.	ENSG00000129250	6317	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.636)	.	deleterious(0.05)	.	KIF1C_HUMAN	KIF1C	HGNC	I3L1B1_HUMAN	.	UPI0000001C26	SNV	KIF1C,missense_variant,p.Lys591Glu,ENST00000320785,;AC109333.10,upstream_gene_variant,,ENST00000438266,;KIF1C,non_coding_transcript_exon_variant,,ENST00000573815,;	2128	48	57	SUCCESS
ALPK2	115701	.	GRCh37	18	56247067	56247067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	28	133	0	ENST00000361673.3:c.941T>C	p.Ile314Thr	p.I314T	ENST00000361673	NM_052947.3	314	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11966.2	941	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTATCTCT	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	.	.	ENSP00000354991	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000361673	Transcript	.	.	ENSG00000198796	20565	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.256)	.	tolerated(0.06)	.	ALPK2_HUMAN	ALPK2	HGNC	.	.	UPI000022A768	SNV	ALPK2,missense_variant,p.Ile314Thr,ENST00000361673,;ALPK2,upstream_gene_variant,,ENST00000587399,;ALPK2,downstream_gene_variant,,ENST00000590642,;ALPK2,upstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000590662,;	1155	133	167	SUCCESS
SIN3B	23309	.	GRCh37	19	16976267	16976267	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1482387474	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	81	0	ENST00000379803.1:c.1526A>G	p.Glu509Gly	p.E509G	ENST00000379803	NM_015260.2	509	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32946.1	1526	MUTECT|MUSE	.	GTTGGAAAGTG	NONE	.	.	SMART_domains:SM00761,Pfam_domain:PF08295,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1	.	.	ENSP00000369131	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	SNV	SIN3B,missense_variant,p.Glu67Gly,ENST00000595541,;SIN3B,missense_variant,p.Glu477Gly,ENST00000248054,;SIN3B,missense_variant,p.Glu509Gly,ENST00000379803,;SIN3B,downstream_gene_variant,,ENST00000596638,;SIN3B,non_coding_transcript_exon_variant,,ENST00000599880,;SIN3B,upstream_gene_variant,,ENST00000595900,;SIN3B,non_coding_transcript_exon_variant,,ENST00000594372,;SIN3B,upstream_gene_variant,,ENST00000602204,;	1540	81	83	SUCCESS
GMIP	51291	.	GRCh37	19	19745495	19745495	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	75	0	ENST00000203556.4:c.1905C>G	p.Ile635Met	p.I635M	ENST00000203556	NM_016573.2	635	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS12408.1	1905	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGATCAC	BUFFER|p.E632K|c.1894G>A|3	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000203556	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.493)	.	deleterious(0.04)	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,missense_variant,p.Ile609Met,ENST00000587238,;GMIP,missense_variant,p.Ile635Met,ENST00000203556,;GMIP,missense_variant,p.Ile606Met,ENST00000445806,;GMIP,downstream_gene_variant,,ENST00000593186,;GMIP,intron_variant,,ENST00000586269,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000591047,;	2043	75	75	SUCCESS
SPINT2	10653	.	GRCh37	19	38779819	38779819	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	49	0	ENST00000301244.7:c.379T>C	p.Phe127Leu	p.F127L	ENST00000301244	NM_021102.3	127	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS12510.1	379	MUTECT|MUSE	.	ATATGTTCAAC	BUFFER|p.D125N|c.373G>A|3	.	.	hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF177	.	.	ENSP00000301244	.	4/7	.	.	.	.	.	.	.	.	COSM3533291	4/7	PASS	ENST00000301244	Transcript	1	.	ENSG00000167642	11247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.067)	.	deleterious(0.04)	1	SPIT2_HUMAN	SPINT2	HGNC	K7EM91_HUMAN,K7EKC8_HUMAN,K7EJS4_HUMAN	.	UPI0000135E8E	SNV	SPINT2,missense_variant,p.Phe77Leu,ENST00000587090,;CTB-102L5.4,missense_variant,p.Phe5Leu,ENST00000591889,;SPINT2,missense_variant,p.Phe70Leu,ENST00000454580,;SPINT2,missense_variant,p.Phe15Leu,ENST00000590738,;SPINT2,missense_variant,p.Phe127Leu,ENST00000301244,;CTB-102L5.4,missense_variant,p.Phe11Leu,ENST00000587519,;SPINT2,missense_variant,p.Phe107Leu,ENST00000587516,;SPINT2,upstream_gene_variant,,ENST00000587334,;SPINT2,downstream_gene_variant,,ENST00000592007,;SPINT2,downstream_gene_variant,,ENST00000590510,;SPINT2,non_coding_transcript_exon_variant,,ENST00000589749,;SPINT2,non_coding_transcript_exon_variant,,ENST00000585357,;SPINT2,downstream_gene_variant,,ENST00000590210,;	814	49	38	SUCCESS
SARS2	54938	.	GRCh37	19	39406698	39406698	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	23	0	ENST00000221431.6:c.1326G>A	p.Gly442=	p.G442=	ENST00000221431	NM_017827.3	442	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS54265.1	1332	MUTECT|MUSE	.	AGCTCCCCAGC	NONE	.	.	PROSITE_profiles:PS50862,hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,TIGRFAM_domain:TIGR00414,Gene3D:3.30.930.10,PIRSF_domain:PIRSF001529,Superfamily_domains:SSF55681	.	.	ENSP00000472847	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,synonymous_variant,p.%3D,ENST00000600042,;SARS2,synonymous_variant,p.%3D,ENST00000448145,;SARS2,synonymous_variant,p.%3D,ENST00000221431,;CTC-360G5.8,synonymous_variant,p.%3D,ENST00000599996,;SARS2,synonymous_variant,p.%3D,ENST00000594171,;SARS2,synonymous_variant,p.%3D,ENST00000430193,;SARS2,synonymous_variant,p.%3D,ENST00000598831,;CCER2,upstream_gene_variant,,ENST00000571838,;SARS2,downstream_gene_variant,,ENST00000598563,;SARS2,downstream_gene_variant,,ENST00000455102,;SARS2,downstream_gene_variant,,ENST00000602034,;SARS2,upstream_gene_variant,,ENST00000594259,;SARS2,downstream_gene_variant,,ENST00000600448,;SARS2,downstream_gene_variant,,ENST00000597490,;	1357	23	37	SUCCESS
IGFL1	374918	.	GRCh37	19	46733653	46733653	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1298109745	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	60	0	ENST00000437936.1:c.202A>G	p.Thr68Ala	p.T68A	ENST00000437936	NM_198541.1	68	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46123.1	202	MUTECT|MUSE|VARSCANS	.	CCCAGACGTGT	NONE	.	.	Pfam_domain:PF14653	.	.	ENSP00000415823	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000437936	Transcript	.	.	ENSG00000188293	24093	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.16)	.	IGFL1_HUMAN	IGFL1	HGNC	.	.	UPI000003C715	SNV	IGFL1,missense_variant,p.Thr68Ala,ENST00000437936,;AC006262.10,upstream_gene_variant,,ENST00000597337,;	225	60	50	SUCCESS
PPP5C	5536	.	GRCh37	19	46890688	46890688	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	41	0	ENST00000012443.4:c.1113G>A	p.Arg371=	p.R371=	ENST00000012443	NM_006247.3	371	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12684.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGAATCG	NONE	.	.	hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300,Prints_domain:PR00114	.	.	ENSP00000012443	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,synonymous_variant,p.%3D,ENST00000391919,;PPP5C,synonymous_variant,p.%3D,ENST00000012443,;AC007193.8,downstream_gene_variant,,ENST00000598616,;AC007193.9,upstream_gene_variant,,ENST00000599645,;PPP5C,synonymous_variant,p.%3D,ENST00000478046,;PPP5C,non_coding_transcript_exon_variant,,ENST00000525507,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,non_coding_transcript_exon_variant,,ENST00000467502,;PPP5C,non_coding_transcript_exon_variant,,ENST00000492109,;PPP5C,non_coding_transcript_exon_variant,,ENST00000491003,;PPP5C,non_coding_transcript_exon_variant,,ENST00000486994,;PPP5C,downstream_gene_variant,,ENST00000532058,;PPP5C,downstream_gene_variant,,ENST00000527193,;PPP5C,downstream_gene_variant,,ENST00000493347,;PPP5C,upstream_gene_variant,,ENST00000527623,;PPP5C,downstream_gene_variant,,ENST00000595055,;	1216	41	45	SUCCESS
ZNF665	79788	.	GRCh37	19	53669326	53669326	+	synonymous_variant	Silent	SNP	A	A	G	rs751461693	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	39	131	0	ENST00000600412.1:c.222T>C	p.Asn74=	p.N74=	ENST00000600412		74	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS46169.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGATTTTC	NONE	byFrequency	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132	.	.	ENSP00000379702	.	4/4	.	.	.	.	.	.	.	.	rs751461693	4/4	PASS	ENST00000396424	Transcript	.	.	ENSG00000197497	25885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,synonymous_variant,p.%3D,ENST00000396424,;ZNF665,synonymous_variant,p.%3D,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	507	131	154	SUCCESS
ZNF677	342926	.	GRCh37	19	53747007	53747007	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	67	0	ENST00000333952.4:c.159T>A	p.Pro53=	p.P53=	ENST00000333952		53	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12861.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAGGGAT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,SMART_domains:SM00349	.	.	ENSP00000334394	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,synonymous_variant,p.%3D,ENST00000599012,;ZNF677,synonymous_variant,p.%3D,ENST00000594681,;ZNF677,synonymous_variant,p.%3D,ENST00000601413,;ZNF677,synonymous_variant,p.%3D,ENST00000601828,;ZNF677,synonymous_variant,p.%3D,ENST00000594517,;ZNF677,synonymous_variant,p.%3D,ENST00000598513,;ZNF677,synonymous_variant,p.%3D,ENST00000598806,;ZNF677,synonymous_variant,p.%3D,ENST00000333952,;CTD-2245F17.6,downstream_gene_variant,,ENST00000596041,;ZNF677,non_coding_transcript_exon_variant,,ENST00000593539,;ZNF677,upstream_gene_variant,,ENST00000599328,;	325	68	80	SUCCESS
PALMD	54873	.	GRCh37	1	100154970	100154970	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	85	0	ENST00000263174.4:c.1154C>G	p.Ser385Ter	p.S385*	ENST00000263174	NM_017734.4	385	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS758.1	1154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCACCCA	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5	.	.	ENSP00000263174	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,stop_gained,p.Ser385Ter,ENST00000605497,;PALMD,stop_gained,p.Ser385Ter,ENST00000263174,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;	1529	85	75	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186880477	186880477	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	120	0	ENST00000367466.3:c.514C>T	p.Leu172Phe	p.L172F	ENST00000367466	NM_024420.2	172	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1372.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACTCTTG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.13)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Leu172Phe,ENST00000367466,;PLA2G4A,intron_variant,,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	666	120	129	SUCCESS
ASPM	259266	.	GRCh37	1	197094016	197094016	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	14	118	0	ENST00000367409.4:c.3152T>C	p.Ile1051Thr	p.I1051T	ENST00000367409	NM_018136.4	1051	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS1389.1	3152	MUTECT|MUSE	.	ACGCTATTTTC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000356379	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Ile1051Thr,ENST00000367409,;ASPM,missense_variant,p.Ile301Thr,ENST00000367408,;ASPM,missense_variant,p.Ile1051Thr,ENST00000294732,;	3409	118	190	SUCCESS
CHML	1122	.	GRCh37	1	241798393	241798393	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	21	96	1	ENST00000366553.1:c.676G>A	p.Gly226Ser	p.G226S	ENST00000366553	NM_001821.3	226	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31073.1	676	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTTCTT	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,Gene3D:3.30.519.10,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000355511	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366553	Transcript	.	.	ENSG00000203668	1941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.423)	.	tolerated(0.16)	.	RAE2_HUMAN	CHML	HGNC	.	.	UPI0000073C74	SNV	CHML,missense_variant,p.Gly226Ser,ENST00000366553,;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000366554,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;	840	97	148	SUCCESS
GLIS1	148979	.	GRCh37	1	53974802	53974802	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs540910687	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	36	0	ENST00000312233.2:c.1696C>T	p.Pro566Ser	p.P566S	ENST00000312233	NM_147193.2	566	Cct/Tct	0	.	T:0.0008	.	T:0	.	A	P/S	protein_coding	YES	CCDS582.1	1696	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGCAAGG	NONE	by1000G	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75	T:0	.	ENSP00000309653	T:0	9/10	.	.	.	.	.	.	.	.	rs540910687	9/10	PASS	ENST00000312233	Transcript	.	T:0.0002	ENSG00000174332	29525	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	T:0	tolerated(0.19)	.	GLIS1_HUMAN	GLIS1	HGNC	.	.	UPI000013F293	SNV	GLIS1,missense_variant,p.Pro566Ser,ENST00000312233,;	2263	36	53	SUCCESS
PTPRT	11122	.	GRCh37	20	40944364	40944364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	103	0	ENST00000373198.4:c.2138G>A	p.Gly713Glu	p.G713E	ENST00000373198	NM_133170.3	713	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS42874.1	2138	RADIA|MUTECT|MUSE|VARSCANS	.	TTACTCCATTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	.	ENSP00000362283	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.326)	.	tolerated(0.07)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Gly713Glu,ENST00000373201,;PTPRT,missense_variant,p.Gly713Glu,ENST00000356100,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373198,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373193,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373184,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373190,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373187,;	2138	103	81	SUCCESS
PREX1	57580	.	GRCh37	20	47307560	47307560	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1441531948	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	28	124	0	ENST00000371941.3:c.1111G>T	p.Val371Phe	p.V371F	ENST00000371941	NM_020820.3	371	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS13410.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACAAACC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000361009	.	9/40	.	.	.	.	.	.	.	.	.	9/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Val371Phe,ENST00000396220,;PREX1,missense_variant,p.Val371Phe,ENST00000371941,;	1134	124	125	SUCCESS
BCR	613	.	GRCh37	22	23656199	23656199	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200185744	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	33	0	ENST00000305877.8:c.3502C>G	p.Leu1168Val	p.L1168V	ENST00000305877	NM_004327.3	1168	Ctg/Gtg	0	.	T:0.0008	.	T:0	.	G	L/V	protein_coding	YES	CCDS13806.1	3502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCTGCTG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50238,hmmpanther:PTHR23182:SF3,hmmpanther:PTHR23182,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	T:0	.	ENSP00000303507	T:0	21/23	.	.	.	.	.	.	.	.	rs200185744	21/23	PASS	ENST00000305877	Transcript	.	T:0.0002	ENSG00000186716	1014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	T:0	deleterious(0.02)	.	BCR_HUMAN	BCR	HGNC	.	.	UPI000016A088	SNV	BCR,missense_variant,p.Leu1124Val,ENST00000359540,;BCR,missense_variant,p.Leu1168Val,ENST00000305877,;BCR,non_coding_transcript_exon_variant,,ENST00000436990,;BCR,intron_variant,,ENST00000458056,;BCR,downstream_gene_variant,,ENST00000419722,;BCR,downstream_gene_variant,,ENST00000478978,;BCR,downstream_gene_variant,,ENST00000475025,;	4253	33	24	SUCCESS
CACNG2	10369	.	GRCh37	22	37098516	37098516	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	29	165	0	ENST00000300105.6:c.106T>A	p.Ser36Thr	p.S36T	ENST00000300105	NM_006078.3	36	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS13931.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAGTAGA	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107,Pfam_domain:PF00822	.	.	ENSP00000300105	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.286)	.	tolerated(0.29)	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,missense_variant,p.Ser36Thr,ENST00000300105,;RP1-293L6.1,upstream_gene_variant,,ENST00000430281,;	1088	165	150	SUCCESS
IL2RB	3560	.	GRCh37	22	37524431	37524431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1415121012	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	23	0	ENST00000216223.5:c.1361G>A	p.Arg454Lys	p.R454K	ENST00000216223	NM_000878.3	454	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS13942.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCCTCTCT	NONE	.	.	hmmpanther:PTHR23037:SF23,hmmpanther:PTHR23037	.	.	ENSP00000216223	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000216223	Transcript	.	.	ENSG00000100385	6009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.47)	.	IL2RB_HUMAN	IL2RB	HGNC	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN	.	UPI000000128F	SNV	IL2RB,missense_variant,p.Arg454Lys,ENST00000216223,;IL2RB,downstream_gene_variant,,ENST00000483573,;	1560	23	31	SUCCESS
NAGA	4668	.	GRCh37	22	42456385	42456385	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	41	0	ENST00000396398.3:c.1134T>A	p.Ser378Arg	p.S378R	ENST00000396398	NM_000262.2	378	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS14030.1	1134	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCACTGAT	NONE	.	.	hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF25,Gene3D:2.60.40.1180,Superfamily_domains:SSF51011	.	.	ENSP00000379680	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000396398	Transcript	.	.	ENSG00000198951	7631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.22)	.	NAGAB_HUMAN	NAGA	HGNC	.	.	UPI000012FD03	SNV	NAGA,missense_variant,p.Ser378Arg,ENST00000396398,;NAGA,missense_variant,p.Ser378Arg,ENST00000402937,;NAGA,missense_variant,p.Ser378Arg,ENST00000403363,;WBP2NL,downstream_gene_variant,,ENST00000436265,;	1667	41	27	SUCCESS
IL18RAP	8807	.	GRCh37	2	103039738	103039738	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	42	187	0	ENST00000264260.2:c.1A>T	p.Met1?	p.M1?	ENST00000264260	NM_003853.2	1	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS2061.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAATGCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4	.	.	ENSP00000264260	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000264260	Transcript	.	.	ENSG00000115607	5989	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.46)	.	deleterious(0.01)	.	I18RA_HUMAN	IL18RAP	HGNC	Q3KPE8_HUMAN,C9JLE2_HUMAN	.	UPI0000071CAF	SNV	IL18RAP,start_lost,p.Met1?,ENST00000450855,;IL18RAP,start_lost,p.Met1?,ENST00000264260,;IL18RAP,5_prime_UTR_variant,,ENST00000409369,;IL18RAP,non_coding_transcript_exon_variant,,ENST00000497795,;	590	187	178	SUCCESS
GREB1	9687	.	GRCh37	2	11738862	11738862	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	81	0	ENST00000234142.5:c.2209C>G	p.Gln737Glu	p.Q737E	ENST00000234142		737	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS42655.1	2209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACAGTAT	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.02)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Gln737Glu,ENST00000234142,;GREB1,missense_variant,p.Gln371Glu,ENST00000432985,;GREB1,missense_variant,p.Gln737Glu,ENST00000381486,;	2509	81	81	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131797718	131797718	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1334913907	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	28	0	ENST00000326016.5:c.877C>T	p.Leu293Phe	p.L293F	ENST00000326016	NM_015320.3	293	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2165.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCCTCAGC	NONE	.	.	Superfamily_domains:SSF48065,Superfamily_domains:SSF50044,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826,PROSITE_profiles:PS50010	.	.	ENSP00000316845	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0.02)	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Leu293Phe,ENST00000326016,;ARHGEF4,missense_variant,p.Leu222Phe,ENST00000355771,;ARHGEF4,missense_variant,p.Leu293Phe,ENST00000392953,;ARHGEF4,missense_variant,p.Leu293Phe,ENST00000525839,;ARHGEF4,missense_variant,p.Leu293Phe,ENST00000409303,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000532720,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000528247,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,upstream_gene_variant,,ENST00000527365,;ARHGEF4,upstream_gene_variant,,ENST00000525092,;	1396	28	24	SUCCESS
POTEE	445582	.	GRCh37	2	131981538	131981538	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	444	86	457	0	ENST00000356920.5:c.732C>T	p.His244=	p.H244=	ENST00000356920	NM_001083538.1	244	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS46414.1	732	RADIA|MUSE|VARSCANS	.	CTGCACTACGC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000439189	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,synonymous_variant,p.%3D,ENST00000356920,;POTEE,synonymous_variant,p.%3D,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	826	457	530	SUCCESS
SPEG	10290	.	GRCh37	2	220326612	220326612	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	72	0	ENST00000312358.7:c.2449A>G	p.Thr817Ala	p.T817A	ENST00000312358	NM_005876.4	817	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS42824.1	2449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTACATCC	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10	.	.	ENSP00000311684	.	7/41	.	.	.	.	.	.	.	.	.	7/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Thr25Ala,ENST00000396695,;SPEG,missense_variant,p.Thr713Ala,ENST00000396698,;SPEG,missense_variant,p.Thr817Ala,ENST00000312358,;SPEG,5_prime_UTR_variant,,ENST00000396688,;SPEG,5_prime_UTR_variant,,ENST00000396686,;SPEG,5_prime_UTR_variant,,ENST00000396689,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000496786,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000463218,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,non_coding_transcript_exon_variant,,ENST00000475921,;	2581	72	73	SUCCESS
PER2	8864	.	GRCh37	2	239161713	239161713	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	57	0	ENST00000254657.3:c.2951G>T	p.Arg984Leu	p.R984L	ENST00000254657	NM_022817.2	984	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2528.1	2951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCGGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	.	.	ENSP00000254657	.	19/23	.	.	.	.	.	.	.	.	COSM1018543	19/23	PASS	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,missense_variant,p.Arg984Leu,ENST00000254657,;PER2,3_prime_UTR_variant,,ENST00000254658,;AC096574.4,intron_variant,,ENST00000456601,;	3231	57	51	SUCCESS
ATAD2B	54454	.	GRCh37	2	23980355	23980355	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	37	162	0	ENST00000238789.5:c.4011T>C	p.Cys1337=	p.C1337=	ENST00000238789	NM_001242338.1	1337	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS46227.1	4011	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTACATTC	NONE	.	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069	.	.	ENSP00000238789	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,synonymous_variant,p.%3D,ENST00000238789,;ATAD2B,synonymous_variant,p.%3D,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;	4355	162	154	SUCCESS
DGUOK	1716	.	GRCh37	2	74185303	74185303	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	32	138	0	ENST00000264093.4:c.738A>G	p.Pro246=	p.P246=	ENST00000264093	NM_080916.2	246	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1931.1	738	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCAGTGCT	NONE	.	.	hmmpanther:PTHR10513:SF8,hmmpanther:PTHR10513,Pfam_domain:PF01712,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000264093	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000264093	Transcript	.	.	ENSG00000114956	2858	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DGUOK_HUMAN	DGUOK	HGNC	E5KSL5_HUMAN,D6W5I0_HUMAN	.	UPI000012921F	SNV	DGUOK,synonymous_variant,p.%3D,ENST00000264093,;DGUOK,synonymous_variant,p.%3D,ENST00000356837,;DGUOK,synonymous_variant,p.%3D,ENST00000348222,;DGUOK-AS1,non_coding_transcript_exon_variant,,ENST00000439192,;DGUOK-AS1,non_coding_transcript_exon_variant,,ENST00000413452,;DGUOK-AS1,intron_variant,,ENST00000453103,;DGUOK,non_coding_transcript_exon_variant,,ENST00000462685,;DGUOK,non_coding_transcript_exon_variant,,ENST00000489796,;DGUOK,3_prime_UTR_variant,,ENST00000418996,;	823	138	161	SUCCESS
ACTR1B	10120	.	GRCh37	2	98275456	98275456	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs148249069	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	43	0	ENST00000289228.5:c.326T>G	p.Leu109Arg	p.L109R	ENST00000289228	NM_005735.3	109	cTc/cGc	0	T:0.0005	.	.	.	.	C	L/R	protein_coding	YES	CCDS2033.1	326	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGAGCACA	NONE	byCluster	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,PROSITE_patterns:PS01132,hmmpanther:PTHR11937:SF195,hmmpanther:PTHR11937	.	T:0	ENSP00000289228	.	5/11	.	.	.	.	.	.	.	.	rs148249069	5/11	PASS	ENST00000289228	Transcript	.	.	ENSG00000115073	168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACTY_HUMAN	ACTR1B	HGNC	.	.	UPI0000049C38	SNV	ACTR1B,missense_variant,p.Leu109Arg,ENST00000289228,;ACTR1B,non_coding_transcript_exon_variant,,ENST00000460427,;ACTR1B,non_coding_transcript_exon_variant,,ENST00000451664,;	543	43	33	SUCCESS
TBCCD1	55171	.	GRCh37	3	186269064	186269064	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	91	0	ENST00000338733.5:c.1549C>A	p.Gln517Lys	p.Q517K	ENST00000338733	NM_018138.3	517	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS3276.1	1549	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGATCCC	NONE	.	.	hmmpanther:PTHR16052	.	.	ENSP00000411253	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000424280	Transcript	.	.	ENSG00000113838	25546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.677)	.	deleterious(0.02)	.	TBCC1_HUMAN	TBCCD1	HGNC	C9J4M0_HUMAN	.	UPI0000073055	SNV	TBCCD1,missense_variant,p.Gln517Lys,ENST00000338733,;TBCCD1,missense_variant,p.Gln421Lys,ENST00000446782,;TBCCD1,missense_variant,p.Gln517Lys,ENST00000424280,;CRYGS,upstream_gene_variant,,ENST00000392499,;TBCCD1,downstream_gene_variant,,ENST00000479590,;	2029	91	101	SUCCESS
SCN5A	6331	.	GRCh37	3	38597244	38597244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	12	112	0	ENST00000333535.4:c.4445G>T	p.Gly1482Val	p.G1482V	ENST00000333535		1482	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46799.1	4445	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCCCCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Gene3D:1byyA00	.	.	ENSP00000410257	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Gly1428Val,ENST00000449557,;SCN5A,missense_variant,p.Gly1482Val,ENST00000413689,;SCN5A,missense_variant,p.Gly1481Val,ENST00000423572,;SCN5A,missense_variant,p.Gly1464Val,ENST00000425664,;SCN5A,missense_variant,p.Gly1464Val,ENST00000414099,;SCN5A,missense_variant,p.Gly1428Val,ENST00000451551,;SCN5A,missense_variant,p.Gly1428Val,ENST00000450102,;SCN5A,missense_variant,p.Gly1482Val,ENST00000333535,;SCN5A,missense_variant,p.Gly1481Val,ENST00000455624,;SCN5A,missense_variant,p.Gly1481Val,ENST00000443581,;SCN5A,upstream_gene_variant,,ENST00000464652,;	4639	112	106	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28931589	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	29	182	0	ENST00000349496.5:c.101G>A	p.Gly34Glu	p.G34E	ENST00000349496	NM_001904.3	34	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2694.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,pathogenic	CTCTGGAATCC	BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs28931589,COSM5671,COSM5670	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	19635198	probably_damaging(0.993)	.	deleterious(0.03)	0,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Gly34Glu,ENST00000349496,;CTNNB1,missense_variant,p.Gly27Glu,ENST00000426215,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000396185,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000405570,;CTNNB1,missense_variant,p.Gly27Glu,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000396183,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	381	182	164	SUCCESS
BRPF1	7862	.	GRCh37	3	9776140	9776140	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	56	0	ENST00000457855.1:c.316C>T	p.Arg106Cys	p.R106C	ENST00000457855		106	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS33692.1	316	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGCGTC	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF10513	.	.	ENSP00000373340	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Arg106Cys,ENST00000457855,;BRPF1,missense_variant,p.Arg106Cys,ENST00000424362,;BRPF1,missense_variant,p.Arg106Cys,ENST00000433861,;BRPF1,missense_variant,p.Arg106Cys,ENST00000383829,;BRPF1,missense_variant,p.Arg106Cys,ENST00000302054,;BRPF1,incomplete_terminal_codon_variant,p.%3D,ENST00000426583,;CPNE9,downstream_gene_variant,,ENST00000383832,;BRPF1,downstream_gene_variant,,ENST00000420291,;	720	56	66	SUCCESS
NPY2R	4887	.	GRCh37	4	156135479	156135479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	40	0	ENST00000329476.3:c.388C>A	p.Gln130Lys	p.Q130K	ENST00000329476	NM_000910.2	130	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3791.1	388	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCAGGGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01012,Prints_domain:PR00237	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,missense_variant,p.Gln130Lys,ENST00000506608,;NPY2R,missense_variant,p.Gln130Lys,ENST00000329476,;	877	40	46	SUCCESS
ARAP2	116984	.	GRCh37	4	36230363	36230363	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	37	161	0	ENST00000303965.4:c.746A>G	p.Gln249Arg	p.Q249R	ENST00000303965	NM_015230.3	249	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3441.1	746	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTGAAAC	NONE	.	.	.	.	.	ENSP00000302895	.	2/33	.	.	.	.	.	.	.	.	.	2/33	PASS	ENST00000303965	Transcript	.	.	ENSG00000047365	16924	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.15)	.	tolerated(0.19)	.	ARAP2_HUMAN	ARAP2	HGNC	D6RAD6_HUMAN	.	UPI000013E917	SNV	ARAP2,missense_variant,p.Gln249Arg,ENST00000303965,;ARAP2,downstream_gene_variant,,ENST00000506189,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	1236	161	184	SUCCESS
TMED7-TICAM2	100302736	.	GRCh37	5	114952130	114952130	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs960731200	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	84	0	ENST00000282382.4:c.451T>C	p.Cys151Arg	p.C151R	ENST00000282382		151	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS54887.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACAGGCAG	NONE	.	.	hmmpanther:PTHR22811:SF49,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000282382	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000282382	Transcript	.	.	ENSG00000251201	33945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.01)	.	.	TMED7-TICAM2	HGNC	G3V2Y2_HUMAN	.	UPI00003779F1	SNV	TMED7-TICAM2,missense_variant,p.Cys151Arg,ENST00000282382,;TMED7,missense_variant,p.Cys151Arg,ENST00000456936,;TICAM2,missense_variant,p.Cys151Arg,ENST00000408996,;TMED7-TICAM2,missense_variant,p.Cys151Arg,ENST00000333314,;TMED7,downstream_gene_variant,,ENST00000508420,;AC010226.4,intron_variant,,ENST00000515570,;AC010226.4,intron_variant,,ENST00000508517,;TMED7,non_coding_transcript_exon_variant,,ENST00000503010,;TMED7-TICAM2,non_coding_transcript_exon_variant,,ENST00000514548,;	820	84	117	SUCCESS
DDX46	9879	.	GRCh37	5	134152221	134152221	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	64	0	ENST00000354283.4:c.2538T>A	p.Ala846=	p.A846=	ENST00000354283		846	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34240.1	2538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTGAGAA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158	.	.	ENSP00000346236	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,synonymous_variant,p.%3D,ENST00000354283,;DDX46,synonymous_variant,p.%3D,ENST00000452510,;DDX46,3_prime_UTR_variant,,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000503946,;DDX46,upstream_gene_variant,,ENST00000507053,;	2673	64	63	SUCCESS
PDE6A	5145	.	GRCh37	5	149324082	149324082	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774005137	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	57	0	ENST00000255266.5:c.155C>T	p.Pro52Leu	p.P52L	ENST00000255266	NM_000440.2	52	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4299.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGGGGAG	NONE	byFrequency	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347	.	.	ENSP00000255266	.	1/22	.	.	.	.	.	.	.	.	rs770854350,rs774005137	1/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,missense_variant,p.Pro52Leu,ENST00000255266,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	275	57	45	SUCCESS
L3MBTL3	84456	.	GRCh37	6	130455007	130455007	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	59	0	ENST00000361794.2:c.2156G>C	p.Ser719Thr	p.S719T	ENST00000361794	NM_032438.2	719	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS34537.1	2156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAGCTTAC	NONE	.	.	Superfamily_domains:SSF47769,SMART_domains:SM00454,Gene3D:1.10.150.50,Pfam_domain:PF00536,hmmpanther:PTHR12247:SF72,hmmpanther:PTHR12247,PROSITE_profiles:PS50105	.	.	ENSP00000431962	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000529410	Transcript	.	.	ENSG00000198945	23035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	tolerated(0.97)	.	LMBL3_HUMAN	L3MBTL3	HGNC	E9PLL7_HUMAN	.	UPI00001C1E3E	SNV	L3MBTL3,missense_variant,p.Ser694Thr,ENST00000533560,;L3MBTL3,missense_variant,p.Ser719Thr,ENST00000529410,;L3MBTL3,missense_variant,p.Ser719Thr,ENST00000361794,;L3MBTL3,missense_variant,p.Ser694Thr,ENST00000368139,;L3MBTL3,missense_variant,p.Ser694Thr,ENST00000526019,;L3MBTL3,missense_variant,p.Ser719Thr,ENST00000368136,;RP11-73O6.3,intron_variant,,ENST00000415964,;RP11-73O6.3,intron_variant,,ENST00000591297,;RP11-73O6.3,intron_variant,,ENST00000609978,;	2635	59	29	SUCCESS
TBC1D7	51256	.	GRCh37	6	13321159	13321159	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	36	0	ENST00000356436.4:c.362G>T	p.Arg121Leu	p.R121L	ENST00000356436	NM_001143965.2	121	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS4523.1	362	MUTECT|MUSE	.	GACTTCGAGGT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR13530:SF2,hmmpanther:PTHR13530	.	.	ENSP00000475727	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000606214	Transcript	.	.	ENSG00000145979	21066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.33)	.	TBCD7_HUMAN	TBC1D7	HGNC	U3KQ23_HUMAN,Q5SZM2_HUMAN,Q5SZM1_HUMAN,Q5SZL8_HUMAN,Q5SZL4_HUMAN	.	UPI0000073B32	SNV	TBC1D7,missense_variant,p.Arg94Leu,ENST00000452989,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000356436,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000416436,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000379300,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000606370,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000446018,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000450347,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000343141,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000422136,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000379291,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000379307,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000606214,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000606541,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000428109,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000607658,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000420456,;TBC1D7,downstream_gene_variant,,ENST00000607230,;TBC1D7,non_coding_transcript_exon_variant,,ENST00000607532,;TBC1D7,non_coding_transcript_exon_variant,,ENST00000607208,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000421203,;	376	36	40	SUCCESS
PHACTR2	9749	.	GRCh37	6	143999268	143999268	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	38	0	ENST00000427704.2:c.14-33885T>C		p.*5*	ENST00000427704	NM_014721.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47493.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCCGCTTGATC	NONE	.	.	.	.	.	ENSP00000417038	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000440869	Transcript	.	.	ENSG00000112419	20956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHAR2_HUMAN	PHACTR2	HGNC	.	.	UPI000020E355	SNV	PHACTR2,5_prime_UTR_variant,,ENST00000451827,;PHACTR2,5_prime_UTR_variant,,ENST00000440869,;PHACTR2,5_prime_UTR_variant,,ENST00000542769,;PHACTR2,5_prime_UTR_variant,,ENST00000397980,;PHACTR2,5_prime_UTR_variant,,ENST00000367582,;PHACTR2,intron_variant,,ENST00000427704,;PHACTR2,intron_variant,,ENST00000305766,;PHACTR2,intron_variant,,ENST00000367584,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000402863,;PHACTR2,upstream_gene_variant,,ENST00000545919,;	167	38	19	SUCCESS
UBR2	23304	.	GRCh37	6	42612241	42612241	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	61	0	ENST00000372899.1:c.2251G>A	p.Glu751Lys	p.E751K	ENST00000372899	NM_015255.2	751	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4870.1	2251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	20/47	.	.	.	.	.	.	.	.	.	20/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Glu751Lys,ENST00000372901,;UBR2,missense_variant,p.Glu255Lys,ENST00000372883,;UBR2,missense_variant,p.Glu751Lys,ENST00000372899,;	2509	61	93	SUCCESS
KCP	375616	.	GRCh37	7	128517710	128517710	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	113	0	ENST00000476647.2:n.4489C>T		p.*1497*	ENST00000476647				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAGCGACT	NONE	.	.	.	.	.	.	.	39/40	.	.	.	.	.	.	.	.	.	39/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,intron_variant,,ENST00000297801,;KCP,intron_variant,,ENST00000460528,;KCP,intron_variant,,ENST00000492679,;	4489	113	96	SUCCESS
MRPS24	64951	.	GRCh37	7	43906467	43906467	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763480703	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	39	0	ENST00000317534.5:c.335G>A	p.Arg112His	p.R112H	ENST00000317534	NM_032014.2	112	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5473.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCGCTTT	NONE	byFrequency	.	Pfam_domain:PF14955,hmmpanther:PTHR21244	.	.	ENSP00000318158	.	4/4	.	.	.	.	.	.	.	.	rs763480703	4/4	PASS	ENST00000317534	Transcript	.	.	ENSG00000062582	14510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	RT24_HUMAN	MRPS24	HGNC	.	.	UPI000006F034	SNV	MRPS24,missense_variant,p.Arg112His,ENST00000317534,;URGCP-MRPS24,3_prime_UTR_variant,,ENST00000603700,;MRPS24,non_coding_transcript_exon_variant,,ENST00000467084,;MRPS24,3_prime_UTR_variant,,ENST00000418740,;MRPS24,non_coding_transcript_exon_variant,,ENST00000483330,;MRPS24,downstream_gene_variant,,ENST00000414932,;	397	39	49	SUCCESS
GCK	2645	.	GRCh37	7	44198813	44198813	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	15	0	ENST00000403799.3:c.46-5751G>T		p.*16*	ENST00000403799	NM_000162.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5480.1	.	MUTECT|MUSE	.	AAGGCCCGCCT	NONE	.	.	.	.	.	ENSP00000223366	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000345378	Transcript	.	.	ENSG00000106633	4195	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXK4_HUMAN	GCK	HGNC	M4PS83_HUMAN,M4PPE1_HUMAN	.	UPI000002AB76	SNV	GCK,5_prime_UTR_variant,,ENST00000345378,;GCK,5_prime_UTR_variant,,ENST00000395796,;GCK,intron_variant,,ENST00000403799,;GCK,intron_variant,,ENST00000437084,;GCK,intron_variant,,ENST00000476008,;	69	15	15	SUCCESS
COBL	23242	.	GRCh37	7	51287547	51287547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs566661748	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	66	0	ENST00000265136.7:c.136G>A	p.Gly46Arg	p.G46R	ENST00000265136	NM_015198.3	46	Ggg/Agg	0	.	T:0.0008	.	T:0	.	T	G/R	protein_coding	YES	CCDS34637.1	136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCCGAGGG	NONE	by1000G	.	hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	T:0	.	ENSP00000265136	T:0	2/13	.	.	.	.	.	.	.	.	rs566661748	2/13	PASS	ENST00000265136	Transcript	.	T:0.0002	ENSG00000106078	22199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	T:0	tolerated(0.12)	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,missense_variant,p.Gly46Arg,ENST00000395540,;COBL,missense_variant,p.Gly30Arg,ENST00000449281,;COBL,missense_variant,p.Gly46Arg,ENST00000265136,;COBL,missense_variant,p.Gly46Arg,ENST00000395542,;COBL,missense_variant,p.Gly46Arg,ENST00000441453,;	302	66	58	SUCCESS
SEMA3A	10371	.	GRCh37	7	83592651	83592651	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	69	0	ENST00000265362.4:c.1730G>A	p.Gly577Asp	p.G577D	ENST00000265362	NM_006080.2	577	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5599.1	1730	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCATGG	NONE	.	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036	.	.	ENSP00000265362	.	16/17	.	.	.	.	.	.	.	.	COSM1092471	16/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.227)	.	tolerated(0.26)	1	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Gly577Asp,ENST00000265362,;SEMA3A,missense_variant,p.Gly577Asp,ENST00000436949,;	2045	69	58	SUCCESS
ADCY8	114	.	GRCh37	8	131848681	131848681	+	synonymous_variant	Silent	SNP	C	C	A	rs755447347	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	40	1	ENST00000286355.5:c.2517G>T	p.Thr839=	p.T839=	ENST00000286355	NM_001115.2	839	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6363.1	2517	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCGTGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	12/18	.	.	.	.	.	.	.	.	rs755447347	12/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;	4610	41	54	SUCCESS
DLC1	10395	.	GRCh37	8	13259101	13259101	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144283917	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	88	0	ENST00000276297.4:c.1051C>T	p.Arg351Trp	p.R351W	ENST00000276297	NM_182643.2	351	Cgg/Tgg	0	A:0.0002	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS5989.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGCGCCC	BUFFER|p.R347R|c.1041A>G|5,BUFFER|p.R347R|c.1041A>G|5,BUFFER|p.R347R|c.1041A>G|5	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2	A:0.001	A:0	ENSP00000276297	A:0	3/18	.	.	.	.	.	.	.	.	rs144283917,COSM244049,COSM244050	3/18	PASS	ENST00000276297	Transcript	.	A:0.0004	ENSG00000164741	2897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.994)	A:0	deleterious_low_confidence(0.02)	0,1,1	RHG07_HUMAN	DLC1	HGNC	.	.	UPI0000210275	SNV	DLC1,missense_variant,p.Arg351Trp,ENST00000511869,;DLC1,missense_variant,p.Arg351Trp,ENST00000276297,;DLC1,missense_variant,p.Arg351Trp,ENST00000316609,;	1461	88	54	SUCCESS
RB1CC1	9821	.	GRCh37	8	53536345	53536345	+	synonymous_variant	Silent	SNP	T	T	C	rs145350535	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	69	0	ENST00000025008.5:c.4782A>G	p.Val1594=	p.V1594=	ENST00000025008	NM_014781.4	1594	gtA/gtG	0	C:0.0002	.	.	.	.	C	V	protein_coding	YES	CCDS34892.1	4782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTATACTTT	NONE	byCluster	.	hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	.	C:0	ENSP00000025008	.	24/24	.	.	.	.	.	.	.	.	rs145350535	24/24	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,synonymous_variant,p.%3D,ENST00000025008,;RB1CC1,synonymous_variant,p.%3D,ENST00000539297,;RB1CC1,synonymous_variant,p.%3D,ENST00000435644,;RB1CC1,intron_variant,,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,non_coding_transcript_exon_variant,,ENST00000522957,;	5306	69	95	SUCCESS
HEY1	23462	.	GRCh37	8	80679323	80679323	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	71	0	ENST00000354724.3:c.170T>G	p.Ile57Ser	p.I57S	ENST00000354724	NM_012258.3	57	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS43749.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAATTATC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50888,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF78,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000338272	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000337919	Transcript	.	.	ENSG00000164683	4880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HEY1_HUMAN	HEY1	HGNC	.	.	UPI000014195F	SNV	HEY1,missense_variant,p.Ile57Ser,ENST00000354724,;HEY1,missense_variant,p.Ile57Ser,ENST00000337919,;HEY1,missense_variant,p.Ile19Ser,ENST00000518733,;HEY1,upstream_gene_variant,,ENST00000523976,;RP11-26J3.1,downstream_gene_variant,,ENST00000502766,;RP11-27N21.3,upstream_gene_variant,,ENST00000607172,;HEY1,upstream_gene_variant,,ENST00000435063,;HEY1,non_coding_transcript_exon_variant,,ENST00000523531,;HEY1,non_coding_transcript_exon_variant,,ENST00000521111,;HEY1,non_coding_transcript_exon_variant,,ENST00000519075,;	364	71	75	SUCCESS
SPTAN1	6709	.	GRCh37	9	131386761	131386761	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	25	0	ENST00000372731.4:c.5972G>T	p.Trp1991Leu	p.W1991L	ENST00000372731	NM_003127.3	1991	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS48036.1	5987	MUTECT|MUSE	.	GTCCTGGATCG	NONE	.	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	46/57	.	.	.	.	.	.	.	.	.	46/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Trp1996Leu,ENST00000372739,;SPTAN1,missense_variant,p.Trp1996Leu,ENST00000358161,;SPTAN1,missense_variant,p.Trp1991Leu,ENST00000372731,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000491712,;	6097	25	25	SUCCESS
C9orf64	84267	.	GRCh37	9	86571248	86571248	+	synonymous_variant	Silent	SNP	G	G	A	rs560017514	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	50	0	ENST00000376344.3:c.168C>T	p.Asn56=	p.N56=	ENST00000376344	NM_032307.3	56	aaC/aaT	0	.	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS6666.2	168	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGTTCAG	NONE	by1000G	.	hmmpanther:PTHR21314:SF0,hmmpanther:PTHR21314,Pfam_domain:PF10343	A:0	.	ENSP00000365522	A:0	1/4	.	.	.	.	.	.	.	.	rs560017514	1/4	PASS	ENST00000376344	Transcript	.	A:0.0002	ENSG00000165118	28144	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CI064_HUMAN	C9orf64	HGNC	Q5T6V7_HUMAN	.	UPI000013E45E	SNV	C9orf64,synonymous_variant,p.%3D,ENST00000376344,;C9orf64,intron_variant,,ENST00000314700,;C9orf64,upstream_gene_variant,,ENST00000376340,;	385	50	52	SUCCESS
NUDT11	55190	.	GRCh37	X	51238814	51238814	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	120	147	1	ENST00000375992.3:c.483T>G	p.Asp161Glu	p.D161E	ENST00000375992	NM_018159.3	161	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS43952.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTATCTGG	NONE	.	.	hmmpanther:PTHR12629,hmmpanther:PTHR12629:SF3	.	.	ENSP00000365160	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375992	Transcript	.	.	ENSG00000196368	18011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.23)	.	NUD11_HUMAN	NUDT11	HGNC	.	.	UPI000007085D	SNV	NUDT11,missense_variant,p.Asp161Glu,ENST00000375992,;	635	148	205	SUCCESS
ZC4H2	55906	.	GRCh37	X	64196327	64196327	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	23	27	0	ENST00000374839.3:c.-70T>C		p.*24*	ENST00000374839	NM_018684.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14380.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAATGTAG	NONE	.	.	.	.	.	ENSP00000363972	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000374839	Transcript	.	.	ENSG00000126970	24931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC4H2_HUMAN	ZC4H2	HGNC	.	.	UPI0000025CAA	SNV	ZC4H2,5_prime_UTR_variant,,ENST00000374839,;ZC4H2,5_prime_UTR_variant,,ENST00000447788,;ZC4H2,5_prime_UTR_variant,,ENST00000545618,;ZC4H2,intron_variant,,ENST00000337990,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000492653,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488608,;ZC4H2,intron_variant,,ENST00000488831,;ZC4H2,upstream_gene_variant,,ENST00000476032,;	38	27	40	SUCCESS
ATRNL1	26033	.	GRCh37	10	117075032	117075032	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	91	0	ENST00000355044.3:c.2823A>T	p.Gln941His	p.Q941H	ENST00000355044	NM_207303.2	941	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS7592.1	2823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAAAATTG	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	18/29	.	.	.	.	.	.	.	.	.	18/29	nonpreferredpair	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0.02)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Gln71His,ENST00000526373,;ATRNL1,missense_variant,p.Gln38His,ENST00000423111,;ATRNL1,missense_variant,p.Gln941His,ENST00000355044,;ATRNL1,5_prime_UTR_variant,,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	2949	91	68	SUCCESS
DHX32	55760	.	GRCh37	10	127569466	127569466	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	44	0	ENST00000284690.3:c.-73T>C		p.*25*	ENST00000284690	NM_018180.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGGGCT	NONE	.	.	.	.	.	ENSP00000284690	.	1/11	.	.	.	.	.	.	.	.	.	1/11	nonpreferredpair	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,5_prime_UTR_variant,,ENST00000415732,;DHX32,5_prime_UTR_variant,,ENST00000284688,;DHX32,5_prime_UTR_variant,,ENST00000284690,;	419	44	30	SUCCESS
SLIT1	6585	.	GRCh37	10	98761962	98761962	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	38	0	ENST00000266058.4:c.4319C>T	p.Ala1440Val	p.A1440V	ENST00000266058	NM_003061.2	1440	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7453.1	4319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTGCCCCC	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00274	.	.	ENSP00000266058	.	36/37	.	.	.	.	.	.	.	.	.	36/37	nonpreferredpair	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.15)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Ala1440Val,ENST00000266058,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;SLIT1,intron_variant,,ENST00000371070,;SLIT1,upstream_gene_variant,,ENST00000494968,;	4565	38	33	SUCCESS
NLRX1	79671	.	GRCh37	11	119044251	119044251	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs548995927	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	51	0	ENST00000292199.2:c.293G>A	p.Arg98His	p.R98H	ENST00000292199	NM_024618.2	98	cGc/cAc	0	.	T:0.0008	.	T:0	.	A	R/H	protein_coding	YES	CCDS8416.1	293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCCAGT	NONE	by1000G	.	hmmpanther:PTHR24106:SF17,hmmpanther:PTHR24106	T:0	.	ENSP00000387334	T:0	5/10	.	.	.	.	.	.	.	.	rs548995927,COSM923778,COSM923779	5/10	nonpreferredpair	ENST00000409109	Transcript	.	T:0.0002	ENSG00000160703	29890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.025)	T:0	deleterious(0.01)	0,1,1	NLRX1_HUMAN	NLRX1	HGNC	C9JQE9_HUMAN,C9JLK8_HUMAN,C9J0R6_HUMAN,B7Z889_HUMAN	.	UPI0000161217	SNV	NLRX1,missense_variant,p.Arg98His,ENST00000409109,;NLRX1,missense_variant,p.Arg98His,ENST00000292199,;NLRX1,missense_variant,p.Arg98His,ENST00000409991,;NLRX1,missense_variant,p.Arg98His,ENST00000409265,;NLRX1,missense_variant,p.Arg98His,ENST00000454811,;NLRX1,missense_variant,p.Arg98His,ENST00000422249,;NLRX1,missense_variant,p.Arg98His,ENST00000525863,;NLRX1,missense_variant,p.Arg98His,ENST00000449394,;NLRX1,non_coding_transcript_exon_variant,,ENST00000474751,;NLRX1,non_coding_transcript_exon_variant,,ENST00000468765,;NLRX1,non_coding_transcript_exon_variant,,ENST00000482180,;NLRX1,upstream_gene_variant,,ENST00000469103,;NLRX1,non_coding_transcript_exon_variant,,ENST00000481860,;NLRX1,non_coding_transcript_exon_variant,,ENST00000524562,;	880	51	38	SUCCESS
MYBPC3	4607	.	GRCh37	11	47368980	47368980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	57	0	ENST00000545968.1:c.902A>G	p.Lys301Arg	p.K301R	ENST00000545968	NM_000256.3	301	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS53621.1	902	MUTECT|MUSE|VARSCANS	.	ACCTCTTTTTC	NONE	.	.	hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF52	.	.	ENSP00000442795	.	9/35	.	.	.	.	.	.	.	.	.	9/35	nonpreferredpair	ENST00000545968	Transcript	.	.	ENSG00000134571	7551	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.18)	.	MYPC3_HUMAN	MYBPC3	HGNC	B6D426_HUMAN	.	UPI000006EEAA	SNV	MYBPC3,missense_variant,p.Lys301Arg,ENST00000545968,;MYBPC3,missense_variant,p.Lys301Arg,ENST00000256993,;MYBPC3,missense_variant,p.Lys301Arg,ENST00000399249,;MYBPC3,missense_variant,p.Lys301Arg,ENST00000544791,;	957	57	47	SUCCESS
BSCL2	26580	.	GRCh37	11	62458597	62458597	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144725547	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	120	0	ENST00000403550.1:c.830G>A	p.Arg277Lys	p.R277K	ENST00000403550		277	aGa/aAa	0	T:0	.	.	.	.	T	R/K	protein_coding	YES	CCDS44627.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCTTTTT	NONE	byCluster	.	hmmpanther:PTHR21212:SF0,hmmpanther:PTHR21212	.	T:0.0001	ENSP00000414002	.	9/12	.	.	.	.	.	.	.	.	rs144725547	9/12	nonpreferredpair	ENST00000433053	Transcript	.	.	ENSG00000168000	15832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.63)	.	BSCL2_HUMAN	BSCL2	HGNC	F8W7Q8_HUMAN,E9PSB5_HUMAN,E9PRU2_HUMAN,E9PPN5_HUMAN,E9PJS9_HUMAN,E9PJK0_HUMAN,E9PIU3_HUMAN	.	UPI0000140040	SNV	BSCL2,missense_variant,p.Arg277Lys,ENST00000421906,;BSCL2,missense_variant,p.Arg341Lys,ENST00000433053,;BSCL2,missense_variant,p.Arg277Lys,ENST00000403550,;BSCL2,missense_variant,p.Arg341Lys,ENST00000360796,;BSCL2,missense_variant,p.Arg277Lys,ENST00000407022,;BSCL2,missense_variant,p.Arg341Lys,ENST00000405837,;BSCL2,missense_variant,p.Arg26Lys,ENST00000449636,;BSCL2,missense_variant,p.Glu230Lys,ENST00000278893,;BSCL2,intron_variant,,ENST00000403098,;BSCL2,downstream_gene_variant,,ENST00000524862,;LRRN4CL,upstream_gene_variant,,ENST00000317449,;BSCL2,downstream_gene_variant,,ENST00000531524,;BSCL2,downstream_gene_variant,,ENST00000533982,;BSCL2,downstream_gene_variant,,ENST00000525000,;BSCL2,downstream_gene_variant,,ENST00000448568,;BSCL2,downstream_gene_variant,,ENST00000537604,;BSCL2,downstream_gene_variant,,ENST00000526426,;BSCL2,downstream_gene_variant,,ENST00000412351,;BSCL2,downstream_gene_variant,,ENST00000530900,;BSCL2,downstream_gene_variant,,ENST00000532115,;BSCL2,3_prime_UTR_variant,,ENST00000301781,;HNRNPUL2-BSCL2,3_prime_UTR_variant,,ENST00000403734,;BSCL2,non_coding_transcript_exon_variant,,ENST00000463679,;BSCL2,non_coding_transcript_exon_variant,,ENST00000470529,;BSCL2,non_coding_transcript_exon_variant,,ENST00000468505,;	1579	120	70	SUCCESS
PYGM	5837	.	GRCh37	11	64522286	64522286	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746412712	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	41	0	ENST00000164139.3:c.878G>A	p.Arg293Gln	p.R293Q	ENST00000164139	NM_005609.2	293	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8079.1	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCGCAGC	NONE	byFrequency	.	Superfamily_domains:SSF53756,PIRSF_domain:PIRSF000460,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,Gene3D:3.40.50.2000,hmmpanther:PTHR11468:SF1,hmmpanther:PTHR11468	.	.	ENSP00000164139	.	8/20	.	.	.	.	.	.	.	.	rs746412712	8/20	nonpreferredpair	ENST00000164139	Transcript	.	.	ENSG00000068976	9726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	PYGM_HUMAN	PYGM	HGNC	.	.	UPI000013C5AC	SNV	PYGM,missense_variant,p.Arg293Gln,ENST00000164139,;PYGM,missense_variant,p.Arg205Gln,ENST00000377432,;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,upstream_gene_variant,,ENST00000460413,;	1277	41	27	SUCCESS
BATF2	116071	.	GRCh37	11	64757247	64757247	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374070737	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	70	0	ENST00000301887.4:c.179G>T	p.Arg60Leu	p.R60L	ENST00000301887	NM_138456.3	60	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS8087.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCGCAGG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR23351:SF11,hmmpanther:PTHR23351,Pfam_domain:PF00170,Gene3D:1.20.5.170,SMART_domains:SM00338,Superfamily_domains:SSF57959	.	T:0.0001	ENSP00000301887	.	3/3	.	.	.	.	.	.	.	.	rs374070737	3/3	nonpreferredpair	ENST00000301887	Transcript	.	.	ENSG00000168062	25163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	BATF2_HUMAN	BATF2	HGNC	.	.	UPI000006E749	SNV	BATF2,missense_variant,p.Arg60Leu,ENST00000301887,;BATF2,missense_variant,p.Arg36Leu,ENST00000527716,;BATF2,missense_variant,p.Arg59Leu,ENST00000534177,;BATF2,5_prime_UTR_variant,,ENST00000435842,;BATF2,non_coding_transcript_exon_variant,,ENST00000527454,;	310	70	56	SUCCESS
SDS	10993	.	GRCh37	12	113834987	113834988	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	64	0	ENST00000257549.4:c.635_636insA	p.Leu213ProfsTer32	p.L213Pfs*32	ENST00000257549	NM_006843.2	212	tcc/tcAc	0	.	.	.	.	.	T	S/SX	protein_coding	YES	CCDS9169.1	635-636	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAGGGAGAC	NONE	.	.	hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF73,Pfam_domain:PF00291,Gene3D:3.40.50.1100,Superfamily_domains:SSF53686	.	.	ENSP00000257549	.	6/8	.	.	.	.	.	.	.	.	.	6/8	nonpreferredpair	ENST00000257549	Transcript	.	.	ENSG00000135094	10691	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDHL_HUMAN	SDS	HGNC	.	.	UPI000013CF6B	insertion	SDS,frameshift_variant,p.Leu213ProfsTer32,ENST00000257549,;SDS,downstream_gene_variant,,ENST00000547342,;SDS,downstream_gene_variant,,ENST00000552280,;SDS,non_coding_transcript_exon_variant,,ENST00000553112,;SDS,downstream_gene_variant,,ENST00000546785,;SDS,downstream_gene_variant,,ENST00000546639,;	758-759	64	72	SUCCESS
NCOR2	9612	.	GRCh37	12	124835161	124835162	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	36	0	ENST00000405201.1:c.3815dup	p.Lys1273GlnfsTer9	p.K1273Qfs*9	ENST00000405201		1272	ggc/ggGc	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS41858.2	3815-3816	VARSCANI*|PINDEL	.	TTCTTGCCTTC	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	28/47	.	.	.	.	.	.	.	.	.	28/47	nonpreferredpair	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	insertion	NCOR2,frameshift_variant,p.Lys1280GlnfsTer9,ENST00000356219,;NCOR2,frameshift_variant,p.Lys1281GlnfsTer9,ENST00000458234,;NCOR2,frameshift_variant,p.Lys834GlnfsTer9,ENST00000404121,;NCOR2,frameshift_variant,p.Lys1263GlnfsTer9,ENST00000429285,;NCOR2,frameshift_variant,p.Lys1273GlnfsTer9,ENST00000405201,;NCOR2,frameshift_variant,p.Lys1263GlnfsTer9,ENST00000404621,;NCOR2,frameshift_variant,p.Lys1264GlnfsTer9,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000536195,;NCOR2,upstream_gene_variant,,ENST00000473999,;NCOR2,downstream_gene_variant,,ENST00000493859,;	3816-3817	36	39	SUCCESS
PPM1H	57460	.	GRCh37	12	63195713	63195713	+	synonymous_variant	Silent	SNP	G	G	A	rs201542231	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	18	0	ENST00000228705.6:c.639C>T	p.Arg213=	p.R213=	ENST00000228705	NM_020700.1	213	cgC/cgT	0	A:0	A:0	.	A:0	.	A	R	protein_coding	YES	CCDS44934.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCTCCGCGCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,SMART_domains:SM00332	A:0.001	A:0.0001	ENSP00000228705	A:0	3/10	.	.	.	.	.	.	.	.	rs201542231	3/10	nonpreferredpair	ENST00000228705	Transcript	.	A:0.0002	ENSG00000111110	18583	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,synonymous_variant,p.%3D,ENST00000228705,;PPM1H,non_coding_transcript_exon_variant,,ENST00000548414,;PPM1H,downstream_gene_variant,,ENST00000547857,;	940	18	13	SUCCESS
FAM90A1	55138	.	GRCh37	12	8375287	8375287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	25	0	ENST00000307435.6:c.526A>G	p.Arg176Gly	p.R176G	ENST00000307435		176	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS31738.1	526	RADIA|MUTECT|VARSCANS	.	GCCCCTGTCAG	NONE	.	.	hmmpanther:PTHR16035:SF8,hmmpanther:PTHR16035	.	.	ENSP00000445418	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000538603	Transcript	.	.	ENSG00000171847	25526	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.796)	.	tolerated(0.14)	.	F90A1_HUMAN	FAM90A1	HGNC	.	.	UPI000013EC10	SNV	FAM90A1,missense_variant,p.Arg176Gly,ENST00000538603,;FAM90A1,missense_variant,p.Arg176Gly,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	1085	25	34	SUCCESS
KRT19P2	160313	.	GRCh37	12	95228694	95228694	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1326766685	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	39	0	ENST00000405395.2:n.465C>T		p.*155*	ENST00000405395				0	.	.	.	.	.	T	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCGTGAA	NONE	.	405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000385303	Transcript	.	.	ENSG00000208038	32081	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR492	HGNC	.	.	.	SNV	MIR492,downstream_gene_variant,,ENST00000385303,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000405395,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000557173,;	.	39	36	SUCCESS
SPATA13	221178	.	GRCh37	13	24798144	24798144	+	intron_variant	Intron	SNP	C	C	T	rs1340205836	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	40	0	ENST00000382095.4:c.-222-25471C>T		p.*74*	ENST00000382095	NM_153023.2	359		0	.	.	.	.	.	T	D	protein_coding	YES	CCDS53857.1	1077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACGACTA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103	.	.	ENSP00000398560	.	4/15	.	.	.	.	.	.	.	.	.	4/15	nonpreferredpair	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,synonymous_variant,p.%3D,ENST00000382108,;SPATA13,synonymous_variant,p.%3D,ENST00000424834,;SPATA13,intron_variant,,ENST00000382095,;SPATA13,upstream_gene_variant,,ENST00000474317,;RP11-307N16.6,synonymous_variant,p.%3D,ENST00000382141,;SPATA13,non_coding_transcript_exon_variant,,ENST00000466831,;	1550	40	33	SUCCESS
NFATC4	4776	.	GRCh37	14	24843036	24843036	+	synonymous_variant	Silent	SNP	C	C	A	rs780390718	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	93	0	ENST00000250373.4:c.1695C>A	p.Val565=	p.V565=	ENST00000250373	NM_004554.4	565	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45089.1	1884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTCGTCTC	NONE	byFrequency	.	PROSITE_profiles:PS50254,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9,Gene3D:2.60.40.340,Pfam_domain:PF00554,Superfamily_domains:SSF49417,Prints_domain:PR01789	.	.	ENSP00000388910	.	6/10	.	.	.	.	.	.	.	.	rs780390718	6/10	nonpreferredpair	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,synonymous_variant,p.%3D,ENST00000554473,;NFATC4,synonymous_variant,p.%3D,ENST00000555590,;NFATC4,synonymous_variant,p.%3D,ENST00000554661,;NFATC4,synonymous_variant,p.%3D,ENST00000555453,;NFATC4,synonymous_variant,p.%3D,ENST00000553708,;NFATC4,synonymous_variant,p.%3D,ENST00000413692,;NFATC4,synonymous_variant,p.%3D,ENST00000556279,;NFATC4,synonymous_variant,p.%3D,ENST00000553879,;NFATC4,synonymous_variant,p.%3D,ENST00000424781,;NFATC4,synonymous_variant,p.%3D,ENST00000554050,;NFATC4,synonymous_variant,p.%3D,ENST00000422617,;NFATC4,synonymous_variant,p.%3D,ENST00000250373,;NFATC4,synonymous_variant,p.%3D,ENST00000553469,;NFATC4,synonymous_variant,p.%3D,ENST00000556169,;NFATC4,synonymous_variant,p.%3D,ENST00000539237,;NFATC4,synonymous_variant,p.%3D,ENST00000555167,;NFATC4,synonymous_variant,p.%3D,ENST00000557451,;NFATC4,synonymous_variant,p.%3D,ENST00000554591,;NFATC4,synonymous_variant,p.%3D,ENST00000556759,;NFATC4,synonymous_variant,p.%3D,ENST00000554966,;NFATC4,synonymous_variant,p.%3D,ENST00000554344,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,upstream_gene_variant,,ENST00000555821,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000557028,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;	2028	93	53	SUCCESS
PCNX	0	.	GRCh37	14	71443876	71443876	+	synonymous_variant	Silent	SNP	T	T	C	rs141883113	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	5	178	0	ENST00000304743.2:c.822T>C	p.Tyr274=	p.Y274=	ENST00000304743	NM_014982.2	274	taT/taC	0	.	C:0	.	C:0	.	C	Y	protein_coding	YES	CCDS9806.1	822	MUTECT|MUSE	.	TCTTATAGAAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	C:0.006	.	ENSP00000304192	C:0	6/36	.	.	.	.	.	.	.	.	rs141883113	6/36	common_in_exac,nonpreferredpair	ENST00000304743	Transcript	.	C:0.0012	ENSG00000100731	19740	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,synonymous_variant,p.%3D,ENST00000238570,;PCNX,synonymous_variant,p.%3D,ENST00000439984,;PCNX,synonymous_variant,p.%3D,ENST00000304743,;PCNX,non_coding_transcript_exon_variant,,ENST00000553272,;PCNX,downstream_gene_variant,,ENST00000553428,;PCNX,non_coding_transcript_exon_variant,,ENST00000554879,;PCNX,upstream_gene_variant,,ENST00000556846,;	1268	178	116	SUCCESS
SERPINA3	12	.	GRCh37	14	95080847	95080847	+	synonymous_variant	Silent	SNP	C	C	T	rs1303905509	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	48	0	ENST00000393080.4:c.69C>T	p.Cys23=	p.C23=	ENST00000393080		23	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS32150.1	69	MUTECT|MUSE	.	CTCTGCCACCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11461:SF145,hmmpanther:PTHR11461,Superfamily_domains:SSF56574	.	.	ENSP00000450540	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000467132	Transcript	1	.	ENSG00000196136	16	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AACT_HUMAN	SERPINA3	HGNC	G3V5I3_HUMAN,G3V3A0_HUMAN	.	UPI000012509B	SNV	SERPINA3,synonymous_variant,p.%3D,ENST00000393078,;SERPINA3,synonymous_variant,p.%3D,ENST00000467132,;SERPINA3,synonymous_variant,p.%3D,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,missense_variant,p.Pro45Ser,ENST00000555820,;SERPINA3,synonymous_variant,p.%3D,ENST00000556968,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;	1217	48	34	SUCCESS
SLC12A6	9990	.	GRCh37	15	34628887	34628887	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	64	0	ENST00000354181.3:c.-6A>C		p.*2*	ENST00000354181				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58352.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTTCTTTT	NONE	.	.	.	.	.	ENSP00000346112	.	2/26	.	.	.	.	.	.	.	.	.	2/26	nonpreferredpair	ENST00000354181	Transcript	1	.	ENSG00000140199	10914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S12A6_HUMAN	SLC12A6	HGNC	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN	.	UPI0000135427	SNV	SLC12A6,splice_region_variant,,ENST00000558667,;SLC12A6,5_prime_UTR_variant,,ENST00000560611,;SLC12A6,5_prime_UTR_variant,,ENST00000397707,;SLC12A6,5_prime_UTR_variant,,ENST00000559236,;SLC12A6,5_prime_UTR_variant,,ENST00000354181,;SLC12A6,intron_variant,,ENST00000458406,;SLC12A6,intron_variant,,ENST00000561120,;SLC12A6,intron_variant,,ENST00000558589,;SLC12A6,intron_variant,,ENST00000397702,;SLC12A6,intron_variant,,ENST00000559484,;SLC12A6,5_prime_UTR_variant,,ENST00000561080,;SLC12A6,5_prime_UTR_variant,,ENST00000559664,;SLC12A6,intron_variant,,ENST00000559523,;	488	64	50	SUCCESS
FANCI	55215	.	GRCh37	15	89844660	89844660	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	126	0	ENST00000310775.7:c.2993C>T	p.Pro998Leu	p.P998L	ENST00000310775	NM_001113378.1	998	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45346.1	2993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCTCCT	NONE	.	.	hmmpanther:PTHR21818,hmmpanther:PTHR21818:SF0,Pfam_domain:PF14677	.	.	ENSP00000310842	.	27/38	.	.	.	.	.	.	.	.	.	27/38	nonpreferredpair	ENST00000310775	Transcript	1	.	ENSG00000140525	25568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	FANCI_HUMAN	FANCI	HGNC	H3BT54_HUMAN,H3BS60_HUMAN,H3BQE2_HUMAN	.	UPI00001FEB1D	SNV	FANCI,missense_variant,p.Pro938Leu,ENST00000300027,;FANCI,missense_variant,p.Pro765Leu,ENST00000561894,;FANCI,missense_variant,p.Pro998Leu,ENST00000310775,;FANCI,intron_variant,,ENST00000565522,;FANCI,missense_variant,p.Pro938Leu,ENST00000447611,;FANCI,non_coding_transcript_exon_variant,,ENST00000566895,;	3079	126	92	SUCCESS
MMP2	4313	.	GRCh37	16	55517934	55517934	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	79	0	ENST00000219070.4:c.387T>A	p.Ile129=	p.I129=	ENST00000219070	NM_004530.4	129	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10752.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTGGCTA	NONE	.	.	hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	.	ENSP00000219070	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000219070	Transcript	.	.	ENSG00000087245	7166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP2_HUMAN	MMP2	HGNC	Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN	.	UPI00000422C4	SNV	MMP2,synonymous_variant,p.%3D,ENST00000543485,;MMP2,synonymous_variant,p.%3D,ENST00000568715,;MMP2,synonymous_variant,p.%3D,ENST00000570308,;MMP2,synonymous_variant,p.%3D,ENST00000219070,;MMP2,synonymous_variant,p.%3D,ENST00000564864,;MMP2,synonymous_variant,p.%3D,ENST00000437642,;MMP2,upstream_gene_variant,,ENST00000570283,;	896	79	76	SUCCESS
ANKFY1	51479	.	GRCh37	17	4098292	4098292	+	synonymous_variant	Silent	SNP	G	G	A	rs745878528	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	76	0	ENST00000341657.4:c.1353C>T	p.Asp451=	p.D451=	ENST00000341657	NM_016376.3	451	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS58502.1	1479	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GGTGCGTCTGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24189,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403	.	.	ENSP00000459943	.	10/25	.	.	.	.	.	.	.	.	rs745878528	10/25	nonpreferredpair	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,synonymous_variant,p.%3D,ENST00000433651,;ANKFY1,synonymous_variant,p.%3D,ENST00000341657,;ANKFY1,synonymous_variant,p.%3D,ENST00000574367,;ANKFY1,synonymous_variant,p.%3D,ENST00000570535,;Y_RNA,downstream_gene_variant,,ENST00000384660,;ANKFY1,upstream_gene_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;ANKFY1,downstream_gene_variant,,ENST00000573250,;	1596	76	58	SUCCESS
CHRNE	1145	.	GRCh37	17	4802334	4802334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	22	0	ENST00000293780.4:c.1288G>T	p.Val430Leu	p.V430L	ENST00000293780	NM_000080.3	430	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS11058.1	1288	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGAAGT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF59,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000293780	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000293780	Transcript	.	.	ENSG00000108556	1966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	deleterious(0.05)	.	ACHE_HUMAN	CHRNE	HGNC	Q8N731_HUMAN	.	UPI0000125262	SNV	CHRNE,missense_variant,p.Val430Leu,ENST00000293780,;C17orf107,upstream_gene_variant,,ENST00000521575,;C17orf107,upstream_gene_variant,,ENST00000381365,;MINK1,downstream_gene_variant,,ENST00000355280,;MINK1,downstream_gene_variant,,ENST00000347992,;MINK1,downstream_gene_variant,,ENST00000576037,;MINK1,downstream_gene_variant,,ENST00000453408,;CHRNE,downstream_gene_variant,,ENST00000575637,;CHRNE,non_coding_transcript_exon_variant,,ENST00000572438,;MINK1,downstream_gene_variant,,ENST00000575511,;MINK1,downstream_gene_variant,,ENST00000572330,;MINK1,downstream_gene_variant,,ENST00000574453,;MINK1,downstream_gene_variant,,ENST00000571207,;MINK1,downstream_gene_variant,,ENST00000572304,;MINK1,downstream_gene_variant,,ENST00000574871,;	1299	22	24	SUCCESS
KIF1C	10749	.	GRCh37	17	4923807	4923807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	54	0	ENST00000320785.5:c.1771A>G	p.Lys591Glu	p.K591E	ENST00000320785	NM_006612.5	591	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11065.1	1771	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCAAGAAC	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000320821	.	20/23	.	.	.	.	.	.	.	.	.	20/23	nonpreferredpair	ENST00000320785	Transcript	.	.	ENSG00000129250	6317	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.636)	.	deleterious(0.05)	.	KIF1C_HUMAN	KIF1C	HGNC	I3L1B1_HUMAN	.	UPI0000001C26	SNV	KIF1C,missense_variant,p.Lys591Glu,ENST00000320785,;AC109333.10,upstream_gene_variant,,ENST00000438266,;KIF1C,non_coding_transcript_exon_variant,,ENST00000573815,;	2128	54	57	SUCCESS
ALPK2	115701	.	GRCh37	18	56247067	56247067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	28	161	0	ENST00000361673.3:c.941T>C	p.Ile314Thr	p.I314T	ENST00000361673	NM_052947.3	314	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11966.2	941	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTATCTCT	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	.	.	ENSP00000354991	.	4/13	.	.	.	.	.	.	.	.	.	4/13	nonpreferredpair	ENST00000361673	Transcript	.	.	ENSG00000198796	20565	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.256)	.	tolerated(0.06)	.	ALPK2_HUMAN	ALPK2	HGNC	.	.	UPI000022A768	SNV	ALPK2,missense_variant,p.Ile314Thr,ENST00000361673,;ALPK2,upstream_gene_variant,,ENST00000587399,;ALPK2,downstream_gene_variant,,ENST00000590642,;ALPK2,upstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000590662,;	1155	161	167	SUCCESS
SIN3B	23309	.	GRCh37	19	16976267	16976267	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1482387474	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	97	0	ENST00000379803.1:c.1526A>G	p.Glu509Gly	p.E509G	ENST00000379803	NM_015260.2	509	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32946.1	1526	MUTECT|MUSE	.	GTTGGAAAGTG	NONE	.	.	SMART_domains:SM00761,Pfam_domain:PF08295,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1	.	.	ENSP00000369131	.	12/20	.	.	.	.	.	.	.	.	.	12/20	nonpreferredpair	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	SNV	SIN3B,missense_variant,p.Glu67Gly,ENST00000595541,;SIN3B,missense_variant,p.Glu477Gly,ENST00000248054,;SIN3B,missense_variant,p.Glu509Gly,ENST00000379803,;SIN3B,downstream_gene_variant,,ENST00000596638,;SIN3B,non_coding_transcript_exon_variant,,ENST00000599880,;SIN3B,upstream_gene_variant,,ENST00000595900,;SIN3B,non_coding_transcript_exon_variant,,ENST00000594372,;SIN3B,upstream_gene_variant,,ENST00000602204,;	1540	97	83	SUCCESS
GMIP	51291	.	GRCh37	19	19745495	19745495	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	86	0	ENST00000203556.4:c.1905C>G	p.Ile635Met	p.I635M	ENST00000203556	NM_016573.2	635	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS12408.1	1905	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGATCAC	BUFFER|p.E632K|c.1894G>A|3	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000203556	.	18/21	.	.	.	.	.	.	.	.	.	18/21	nonpreferredpair	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.493)	.	deleterious(0.04)	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,missense_variant,p.Ile609Met,ENST00000587238,;GMIP,missense_variant,p.Ile635Met,ENST00000203556,;GMIP,missense_variant,p.Ile606Met,ENST00000445806,;GMIP,downstream_gene_variant,,ENST00000593186,;GMIP,intron_variant,,ENST00000586269,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000591047,;	2043	86	75	SUCCESS
SPINT2	10653	.	GRCh37	19	38779819	38779819	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	54	0	ENST00000301244.7:c.379T>C	p.Phe127Leu	p.F127L	ENST00000301244	NM_021102.3	127	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS12510.1	379	MUTECT|MUSE	.	ATATGTTCAAC	BUFFER|p.D125N|c.373G>A|3	.	.	hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF177	.	.	ENSP00000301244	.	4/7	.	.	.	.	.	.	.	.	COSM3533291	4/7	nonpreferredpair	ENST00000301244	Transcript	1	.	ENSG00000167642	11247	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.067)	.	deleterious(0.04)	1	SPIT2_HUMAN	SPINT2	HGNC	K7EM91_HUMAN,K7EKC8_HUMAN,K7EJS4_HUMAN	.	UPI0000135E8E	SNV	SPINT2,missense_variant,p.Phe77Leu,ENST00000587090,;CTB-102L5.4,missense_variant,p.Phe5Leu,ENST00000591889,;SPINT2,missense_variant,p.Phe70Leu,ENST00000454580,;SPINT2,missense_variant,p.Phe15Leu,ENST00000590738,;SPINT2,missense_variant,p.Phe127Leu,ENST00000301244,;CTB-102L5.4,missense_variant,p.Phe11Leu,ENST00000587519,;SPINT2,missense_variant,p.Phe107Leu,ENST00000587516,;SPINT2,upstream_gene_variant,,ENST00000587334,;SPINT2,downstream_gene_variant,,ENST00000592007,;SPINT2,downstream_gene_variant,,ENST00000590510,;SPINT2,non_coding_transcript_exon_variant,,ENST00000589749,;SPINT2,non_coding_transcript_exon_variant,,ENST00000585357,;SPINT2,downstream_gene_variant,,ENST00000590210,;	814	54	38	SUCCESS
SARS2	54938	.	GRCh37	19	39406698	39406698	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	36	0	ENST00000221431.6:c.1326G>A	p.Gly442=	p.G442=	ENST00000221431	NM_017827.3	442	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS54265.1	1332	MUTECT|MUSE	.	AGCTCCCCAGC	NONE	.	.	PROSITE_profiles:PS50862,hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,TIGRFAM_domain:TIGR00414,Gene3D:3.30.930.10,PIRSF_domain:PIRSF001529,Superfamily_domains:SSF55681	.	.	ENSP00000472847	.	15/17	.	.	.	.	.	.	.	.	.	15/17	nonpreferredpair	ENST00000600042	Transcript	1	.	ENSG00000104835	17697	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYSM_HUMAN	SARS2	HGNC	M0R259_HUMAN	.	UPI00017A6C34	SNV	SARS2,synonymous_variant,p.%3D,ENST00000600042,;SARS2,synonymous_variant,p.%3D,ENST00000448145,;SARS2,synonymous_variant,p.%3D,ENST00000221431,;CTC-360G5.8,synonymous_variant,p.%3D,ENST00000599996,;SARS2,synonymous_variant,p.%3D,ENST00000594171,;SARS2,synonymous_variant,p.%3D,ENST00000430193,;SARS2,synonymous_variant,p.%3D,ENST00000598831,;CCER2,upstream_gene_variant,,ENST00000571838,;SARS2,downstream_gene_variant,,ENST00000598563,;SARS2,downstream_gene_variant,,ENST00000455102,;SARS2,downstream_gene_variant,,ENST00000602034,;SARS2,upstream_gene_variant,,ENST00000594259,;SARS2,downstream_gene_variant,,ENST00000600448,;SARS2,downstream_gene_variant,,ENST00000597490,;	1357	36	37	SUCCESS
IGFL1	374918	.	GRCh37	19	46733653	46733653	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1298109745	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	62	0	ENST00000437936.1:c.202A>G	p.Thr68Ala	p.T68A	ENST00000437936	NM_198541.1	68	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46123.1	202	MUTECT|MUSE|VARSCANS	.	CCCAGACGTGT	NONE	.	.	Pfam_domain:PF14653	.	.	ENSP00000415823	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000437936	Transcript	.	.	ENSG00000188293	24093	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.16)	.	IGFL1_HUMAN	IGFL1	HGNC	.	.	UPI000003C715	SNV	IGFL1,missense_variant,p.Thr68Ala,ENST00000437936,;AC006262.10,upstream_gene_variant,,ENST00000597337,;	225	62	50	SUCCESS
PPP5C	5536	.	GRCh37	19	46890688	46890688	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	60	0	ENST00000012443.4:c.1113G>A	p.Arg371=	p.R371=	ENST00000012443	NM_006247.3	371	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12684.1	1113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGAATCG	NONE	.	.	hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300,Prints_domain:PR00114	.	.	ENSP00000012443	.	9/13	.	.	.	.	.	.	.	.	.	9/13	nonpreferredpair	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,synonymous_variant,p.%3D,ENST00000391919,;PPP5C,synonymous_variant,p.%3D,ENST00000012443,;AC007193.8,downstream_gene_variant,,ENST00000598616,;AC007193.9,upstream_gene_variant,,ENST00000599645,;PPP5C,synonymous_variant,p.%3D,ENST00000478046,;PPP5C,non_coding_transcript_exon_variant,,ENST00000525507,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,non_coding_transcript_exon_variant,,ENST00000467502,;PPP5C,non_coding_transcript_exon_variant,,ENST00000492109,;PPP5C,non_coding_transcript_exon_variant,,ENST00000491003,;PPP5C,non_coding_transcript_exon_variant,,ENST00000486994,;PPP5C,downstream_gene_variant,,ENST00000532058,;PPP5C,downstream_gene_variant,,ENST00000527193,;PPP5C,downstream_gene_variant,,ENST00000493347,;PPP5C,upstream_gene_variant,,ENST00000527623,;PPP5C,downstream_gene_variant,,ENST00000595055,;	1216	61	45	SUCCESS
ZNF665	79788	.	GRCh37	19	53669326	53669326	+	synonymous_variant	Silent	SNP	A	A	G	rs751461693	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	39	179	0	ENST00000600412.1:c.222T>C	p.Asn74=	p.N74=	ENST00000600412		74	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS46169.1	417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGATTTTC	NONE	byFrequency	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132	.	.	ENSP00000379702	.	4/4	.	.	.	.	.	.	.	.	rs751461693	4/4	nonpreferredpair	ENST00000396424	Transcript	.	.	ENSG00000197497	25885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,synonymous_variant,p.%3D,ENST00000396424,;ZNF665,synonymous_variant,p.%3D,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	507	179	154	SUCCESS
ZNF677	342926	.	GRCh37	19	53747007	53747007	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	97	0	ENST00000333952.4:c.159T>A	p.Pro53=	p.P53=	ENST00000333952		53	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12861.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGAGGGAT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,SMART_domains:SM00349	.	.	ENSP00000334394	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,synonymous_variant,p.%3D,ENST00000599012,;ZNF677,synonymous_variant,p.%3D,ENST00000594681,;ZNF677,synonymous_variant,p.%3D,ENST00000601413,;ZNF677,synonymous_variant,p.%3D,ENST00000601828,;ZNF677,synonymous_variant,p.%3D,ENST00000594517,;ZNF677,synonymous_variant,p.%3D,ENST00000598513,;ZNF677,synonymous_variant,p.%3D,ENST00000598806,;ZNF677,synonymous_variant,p.%3D,ENST00000333952,;CTD-2245F17.6,downstream_gene_variant,,ENST00000596041,;ZNF677,non_coding_transcript_exon_variant,,ENST00000593539,;ZNF677,upstream_gene_variant,,ENST00000599328,;	325	98	80	SUCCESS
PALMD	54873	.	GRCh37	1	100154970	100154970	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	116	0	ENST00000263174.4:c.1154C>G	p.Ser385Ter	p.S385*	ENST00000263174	NM_017734.4	385	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS758.1	1154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCACCCA	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5	.	.	ENSP00000263174	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,stop_gained,p.Ser385Ter,ENST00000605497,;PALMD,stop_gained,p.Ser385Ter,ENST00000263174,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;	1529	116	75	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186880477	186880477	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	149	0	ENST00000367466.3:c.514C>T	p.Leu172Phe	p.L172F	ENST00000367466	NM_024420.2	172	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1372.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACTCTTG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.13)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Leu172Phe,ENST00000367466,;PLA2G4A,intron_variant,,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	666	149	129	SUCCESS
ASPM	259266	.	GRCh37	1	197094016	197094016	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	14	199	0	ENST00000367409.4:c.3152T>C	p.Ile1051Thr	p.I1051T	ENST00000367409	NM_018136.4	1051	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS1389.1	3152	MUTECT|MUSE	.	ACGCTATTTTC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000356379	.	12/28	.	.	.	.	.	.	.	.	.	12/28	nonpreferredpair	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Ile1051Thr,ENST00000367409,;ASPM,missense_variant,p.Ile301Thr,ENST00000367408,;ASPM,missense_variant,p.Ile1051Thr,ENST00000294732,;	3409	199	190	SUCCESS
CHML	1122	.	GRCh37	1	241798393	241798393	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	21	117	0	ENST00000366553.1:c.676G>A	p.Gly226Ser	p.G226S	ENST00000366553	NM_001821.3	226	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31073.1	676	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTTCTT	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,Gene3D:3.30.519.10,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893	.	.	ENSP00000355511	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000366553	Transcript	.	.	ENSG00000203668	1941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.423)	.	tolerated(0.16)	.	RAE2_HUMAN	CHML	HGNC	.	.	UPI0000073C74	SNV	CHML,missense_variant,p.Gly226Ser,ENST00000366553,;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000366554,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;	840	117	148	SUCCESS
GLIS1	148979	.	GRCh37	1	53974802	53974802	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs540910687	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	49	0	ENST00000312233.2:c.1696C>T	p.Pro566Ser	p.P566S	ENST00000312233	NM_147193.2	566	Cct/Tct	0	.	T:0.0008	.	T:0	.	A	P/S	protein_coding	YES	CCDS582.1	1696	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGCAAGG	NONE	by1000G	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75	T:0	.	ENSP00000309653	T:0	9/10	.	.	.	.	.	.	.	.	rs540910687	9/10	nonpreferredpair	ENST00000312233	Transcript	.	T:0.0002	ENSG00000174332	29525	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	T:0	tolerated(0.19)	.	GLIS1_HUMAN	GLIS1	HGNC	.	.	UPI000013F293	SNV	GLIS1,missense_variant,p.Pro566Ser,ENST00000312233,;	2263	49	53	SUCCESS
PTPRT	11122	.	GRCh37	20	40944364	40944364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	120	0	ENST00000373198.4:c.2138G>A	p.Gly713Glu	p.G713E	ENST00000373198	NM_133170.3	713	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS42874.1	2138	RADIA|MUTECT|MUSE|VARSCANS	.	TTACTCCATTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	.	ENSP00000362283	.	12/31	.	.	.	.	.	.	.	.	.	12/31	nonpreferredpair	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.326)	.	tolerated(0.07)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Gly713Glu,ENST00000373201,;PTPRT,missense_variant,p.Gly713Glu,ENST00000356100,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373198,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373193,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373184,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373190,;PTPRT,missense_variant,p.Gly713Glu,ENST00000373187,;	2138	120	81	SUCCESS
PREX1	57580	.	GRCh37	20	47307560	47307560	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1441531948	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	28	141	0	ENST00000371941.3:c.1111G>T	p.Val371Phe	p.V371F	ENST00000371941	NM_020820.3	371	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS13410.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACAAACC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000361009	.	9/40	.	.	.	.	.	.	.	.	.	9/40	nonpreferredpair	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Val371Phe,ENST00000396220,;PREX1,missense_variant,p.Val371Phe,ENST00000371941,;	1134	141	125	SUCCESS
BCR	613	.	GRCh37	22	23656199	23656199	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200185744	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	23	0	ENST00000305877.8:c.3502C>G	p.Leu1168Val	p.L1168V	ENST00000305877	NM_004327.3	1168	Ctg/Gtg	0	.	T:0.0008	.	T:0	.	G	L/V	protein_coding	YES	CCDS13806.1	3502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCTGCTG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50238,hmmpanther:PTHR23182:SF3,hmmpanther:PTHR23182,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	T:0	.	ENSP00000303507	T:0	21/23	.	.	.	.	.	.	.	.	rs200185744	21/23	nonpreferredpair	ENST00000305877	Transcript	.	T:0.0002	ENSG00000186716	1014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	T:0	deleterious(0.02)	.	BCR_HUMAN	BCR	HGNC	.	.	UPI000016A088	SNV	BCR,missense_variant,p.Leu1124Val,ENST00000359540,;BCR,missense_variant,p.Leu1168Val,ENST00000305877,;BCR,non_coding_transcript_exon_variant,,ENST00000436990,;BCR,intron_variant,,ENST00000458056,;BCR,downstream_gene_variant,,ENST00000419722,;BCR,downstream_gene_variant,,ENST00000478978,;BCR,downstream_gene_variant,,ENST00000475025,;	4253	23	24	SUCCESS
CACNG2	10369	.	GRCh37	22	37098516	37098516	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	29	183	0	ENST00000300105.6:c.106T>A	p.Ser36Thr	p.S36T	ENST00000300105	NM_006078.3	36	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS13931.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGAGTAGA	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107,Pfam_domain:PF00822	.	.	ENSP00000300105	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.286)	.	tolerated(0.29)	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,missense_variant,p.Ser36Thr,ENST00000300105,;RP1-293L6.1,upstream_gene_variant,,ENST00000430281,;	1088	183	150	SUCCESS
IL2RB	3560	.	GRCh37	22	37524431	37524431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1415121012	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	38	0	ENST00000216223.5:c.1361G>A	p.Arg454Lys	p.R454K	ENST00000216223	NM_000878.3	454	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS13942.1	1361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCTCTCT	NONE	.	.	hmmpanther:PTHR23037:SF23,hmmpanther:PTHR23037	.	.	ENSP00000216223	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000216223	Transcript	.	.	ENSG00000100385	6009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.47)	.	IL2RB_HUMAN	IL2RB	HGNC	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN	.	UPI000000128F	SNV	IL2RB,missense_variant,p.Arg454Lys,ENST00000216223,;IL2RB,downstream_gene_variant,,ENST00000483573,;	1560	38	31	SUCCESS
NAGA	4668	.	GRCh37	22	42456385	42456385	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	37	0	ENST00000396398.3:c.1134T>A	p.Ser378Arg	p.S378R	ENST00000396398	NM_000262.2	378	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS14030.1	1134	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCACTGAT	NONE	.	.	hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF25,Gene3D:2.60.40.1180,Superfamily_domains:SSF51011	.	.	ENSP00000379680	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000396398	Transcript	.	.	ENSG00000198951	7631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.22)	.	NAGAB_HUMAN	NAGA	HGNC	.	.	UPI000012FD03	SNV	NAGA,missense_variant,p.Ser378Arg,ENST00000396398,;NAGA,missense_variant,p.Ser378Arg,ENST00000402937,;NAGA,missense_variant,p.Ser378Arg,ENST00000403363,;WBP2NL,downstream_gene_variant,,ENST00000436265,;	1667	37	27	SUCCESS
IL18RAP	8807	.	GRCh37	2	103039738	103039738	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	42	268	0	ENST00000264260.2:c.1A>T	p.Met1?	p.M1?	ENST00000264260	NM_003853.2	1	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS2061.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAATGCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4	.	.	ENSP00000264260	.	3/12	.	.	.	.	.	.	.	.	.	3/12	nonpreferredpair	ENST00000264260	Transcript	.	.	ENSG00000115607	5989	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.46)	.	deleterious(0.01)	.	I18RA_HUMAN	IL18RAP	HGNC	Q3KPE8_HUMAN,C9JLE2_HUMAN	.	UPI0000071CAF	SNV	IL18RAP,start_lost,p.Met1?,ENST00000450855,;IL18RAP,start_lost,p.Met1?,ENST00000264260,;IL18RAP,5_prime_UTR_variant,,ENST00000409369,;IL18RAP,non_coding_transcript_exon_variant,,ENST00000497795,;	590	268	178	SUCCESS
GREB1	9687	.	GRCh37	2	11738862	11738862	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	93	0	ENST00000234142.5:c.2209C>G	p.Gln737Glu	p.Q737E	ENST00000234142		737	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS42655.1	2209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACAGTAT	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	15/33	.	.	.	.	.	.	.	.	.	15/33	nonpreferredpair	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.02)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Gln737Glu,ENST00000234142,;GREB1,missense_variant,p.Gln371Glu,ENST00000432985,;GREB1,missense_variant,p.Gln737Glu,ENST00000381486,;	2509	93	81	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131797718	131797718	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1334913907	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	31	0	ENST00000326016.5:c.877C>T	p.Leu293Phe	p.L293F	ENST00000326016	NM_015320.3	293	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2165.1	877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCTCAGC	NONE	.	.	Superfamily_domains:SSF48065,Superfamily_domains:SSF50044,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826,PROSITE_profiles:PS50010	.	.	ENSP00000316845	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0.02)	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Leu293Phe,ENST00000326016,;ARHGEF4,missense_variant,p.Leu222Phe,ENST00000355771,;ARHGEF4,missense_variant,p.Leu293Phe,ENST00000392953,;ARHGEF4,missense_variant,p.Leu293Phe,ENST00000525839,;ARHGEF4,missense_variant,p.Leu293Phe,ENST00000409303,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000532720,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000528247,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,upstream_gene_variant,,ENST00000527365,;ARHGEF4,upstream_gene_variant,,ENST00000525092,;	1396	31	24	SUCCESS
POTEE	445582	.	GRCh37	2	131981538	131981538	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	48	304	0	ENST00000356920.5:c.732C>T	p.His244=	p.H244=	ENST00000356920	NM_001083538.1	244	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS46414.1	732	RADIA|VARSCANS	.	CTGCACTACGC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000439189	.	3/15	.	.	.	.	.	.	.	.	.	3/15	nonpreferredpair	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,synonymous_variant,p.%3D,ENST00000356920,;POTEE,synonymous_variant,p.%3D,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	826	304	250	SUCCESS
SPEG	10290	.	GRCh37	2	220326612	220326612	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	85	1	ENST00000312358.7:c.2449A>G	p.Thr817Ala	p.T817A	ENST00000312358	NM_005876.4	817	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS42824.1	2449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTACATCC	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10	.	.	ENSP00000311684	.	7/41	.	.	.	.	.	.	.	.	.	7/41	nonpreferredpair	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Thr25Ala,ENST00000396695,;SPEG,missense_variant,p.Thr713Ala,ENST00000396698,;SPEG,missense_variant,p.Thr817Ala,ENST00000312358,;SPEG,5_prime_UTR_variant,,ENST00000396688,;SPEG,5_prime_UTR_variant,,ENST00000396686,;SPEG,5_prime_UTR_variant,,ENST00000396689,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000496786,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000463218,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,non_coding_transcript_exon_variant,,ENST00000475921,;	2581	86	73	SUCCESS
PER2	8864	.	GRCh37	2	239161713	239161713	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	53	0	ENST00000254657.3:c.2951G>T	p.Arg984Leu	p.R984L	ENST00000254657	NM_022817.2	984	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2528.1	2951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCGGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	.	.	ENSP00000254657	.	19/23	.	.	.	.	.	.	.	.	COSM1018543	19/23	nonpreferredpair	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,missense_variant,p.Arg984Leu,ENST00000254657,;PER2,3_prime_UTR_variant,,ENST00000254658,;AC096574.4,intron_variant,,ENST00000456601,;	3231	53	51	SUCCESS
ATAD2B	54454	.	GRCh37	2	23980355	23980355	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	37	224	1	ENST00000238789.5:c.4011T>C	p.Cys1337=	p.C1337=	ENST00000238789	NM_001242338.1	1337	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS46227.1	4011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTACATTC	NONE	.	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069	.	.	ENSP00000238789	.	25/28	.	.	.	.	.	.	.	.	.	25/28	nonpreferredpair	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,synonymous_variant,p.%3D,ENST00000238789,;ATAD2B,synonymous_variant,p.%3D,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;	4355	225	154	SUCCESS
DGUOK	1716	.	GRCh37	2	74185303	74185303	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	32	176	0	ENST00000264093.4:c.738A>G	p.Pro246=	p.P246=	ENST00000264093	NM_080916.2	246	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1931.1	738	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCAGTGCT	NONE	.	.	hmmpanther:PTHR10513:SF8,hmmpanther:PTHR10513,Pfam_domain:PF01712,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000264093	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000264093	Transcript	.	.	ENSG00000114956	2858	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DGUOK_HUMAN	DGUOK	HGNC	E5KSL5_HUMAN,D6W5I0_HUMAN	.	UPI000012921F	SNV	DGUOK,synonymous_variant,p.%3D,ENST00000264093,;DGUOK,synonymous_variant,p.%3D,ENST00000356837,;DGUOK,synonymous_variant,p.%3D,ENST00000348222,;DGUOK-AS1,non_coding_transcript_exon_variant,,ENST00000439192,;DGUOK-AS1,non_coding_transcript_exon_variant,,ENST00000413452,;DGUOK-AS1,intron_variant,,ENST00000453103,;DGUOK,non_coding_transcript_exon_variant,,ENST00000462685,;DGUOK,non_coding_transcript_exon_variant,,ENST00000489796,;DGUOK,3_prime_UTR_variant,,ENST00000418996,;	823	176	161	SUCCESS
ACTR1B	10120	.	GRCh37	2	98275456	98275456	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs148249069	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	55	0	ENST00000289228.5:c.326T>G	p.Leu109Arg	p.L109R	ENST00000289228	NM_005735.3	109	cTc/cGc	0	T:0.0005	.	.	.	.	C	L/R	protein_coding	YES	CCDS2033.1	326	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGAGCACA	NONE	byCluster	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,PROSITE_patterns:PS01132,hmmpanther:PTHR11937:SF195,hmmpanther:PTHR11937	.	T:0	ENSP00000289228	.	5/11	.	.	.	.	.	.	.	.	rs148249069	5/11	nonpreferredpair	ENST00000289228	Transcript	.	.	ENSG00000115073	168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACTY_HUMAN	ACTR1B	HGNC	.	.	UPI0000049C38	SNV	ACTR1B,missense_variant,p.Leu109Arg,ENST00000289228,;ACTR1B,non_coding_transcript_exon_variant,,ENST00000460427,;ACTR1B,non_coding_transcript_exon_variant,,ENST00000451664,;	543	55	33	SUCCESS
TBCCD1	55171	.	GRCh37	3	186269064	186269064	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	17	127	0	ENST00000338733.5:c.1549C>A	p.Gln517Lys	p.Q517K	ENST00000338733	NM_018138.3	517	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS3276.1	1549	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGATCCC	NONE	.	.	hmmpanther:PTHR16052	.	.	ENSP00000411253	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000424280	Transcript	.	.	ENSG00000113838	25546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.677)	.	deleterious(0.02)	.	TBCC1_HUMAN	TBCCD1	HGNC	C9J4M0_HUMAN	.	UPI0000073055	SNV	TBCCD1,missense_variant,p.Gln517Lys,ENST00000338733,;TBCCD1,missense_variant,p.Gln421Lys,ENST00000446782,;TBCCD1,missense_variant,p.Gln517Lys,ENST00000424280,;CRYGS,upstream_gene_variant,,ENST00000392499,;TBCCD1,downstream_gene_variant,,ENST00000479590,;	2029	127	101	SUCCESS
SCN5A	6331	.	GRCh37	3	38597244	38597244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	12	116	0	ENST00000333535.4:c.4445G>T	p.Gly1482Val	p.G1482V	ENST00000333535		1482	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS46799.1	4445	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCCCCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Gene3D:1byyA00	.	.	ENSP00000410257	.	26/28	.	.	.	.	.	.	.	.	.	26/28	nonpreferredpair	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Gly1428Val,ENST00000449557,;SCN5A,missense_variant,p.Gly1482Val,ENST00000413689,;SCN5A,missense_variant,p.Gly1481Val,ENST00000423572,;SCN5A,missense_variant,p.Gly1464Val,ENST00000425664,;SCN5A,missense_variant,p.Gly1464Val,ENST00000414099,;SCN5A,missense_variant,p.Gly1428Val,ENST00000451551,;SCN5A,missense_variant,p.Gly1428Val,ENST00000450102,;SCN5A,missense_variant,p.Gly1482Val,ENST00000333535,;SCN5A,missense_variant,p.Gly1481Val,ENST00000455624,;SCN5A,missense_variant,p.Gly1481Val,ENST00000443581,;SCN5A,upstream_gene_variant,,ENST00000464652,;	4639	116	106	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28931589	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	29	221	0	ENST00000349496.5:c.101G>A	p.Gly34Glu	p.G34E	ENST00000349496	NM_001904.3	34	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2694.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,pathogenic	CTCTGGAATCC	BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs28931589,COSM5671,COSM5670	3/15	nonpreferredpair	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	19635198	probably_damaging(0.993)	.	deleterious(0.03)	0,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Gly34Glu,ENST00000349496,;CTNNB1,missense_variant,p.Gly27Glu,ENST00000426215,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000396185,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000405570,;CTNNB1,missense_variant,p.Gly27Glu,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000396183,;CTNNB1,missense_variant,p.Gly34Glu,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	381	222	164	SUCCESS
BRPF1	7862	.	GRCh37	3	9776140	9776140	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	7	65	1	ENST00000457855.1:c.316C>T	p.Arg106Cys	p.R106C	ENST00000457855		106	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS33692.1	316	RADIA|MUTECT|VARSCANS	.	ATGGCCGCGTC	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF10513	.	.	ENSP00000373340	.	2/14	.	.	.	.	.	.	.	.	.	2/14	nonpreferredpair	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Arg106Cys,ENST00000457855,;BRPF1,missense_variant,p.Arg106Cys,ENST00000424362,;BRPF1,missense_variant,p.Arg106Cys,ENST00000433861,;BRPF1,missense_variant,p.Arg106Cys,ENST00000383829,;BRPF1,missense_variant,p.Arg106Cys,ENST00000302054,;BRPF1,incomplete_terminal_codon_variant,p.%3D,ENST00000426583,;CPNE9,downstream_gene_variant,,ENST00000383832,;BRPF1,downstream_gene_variant,,ENST00000420291,;	720	66	66	SUCCESS
NPY2R	4887	.	GRCh37	4	156135479	156135479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	74	0	ENST00000329476.3:c.388C>A	p.Gln130Lys	p.Q130K	ENST00000329476	NM_000910.2	130	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3791.1	388	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCAGGGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01012,Prints_domain:PR00237	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,missense_variant,p.Gln130Lys,ENST00000506608,;NPY2R,missense_variant,p.Gln130Lys,ENST00000329476,;	877	74	46	SUCCESS
ARAP2	116984	.	GRCh37	4	36230363	36230363	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	37	218	0	ENST00000303965.4:c.746A>G	p.Gln249Arg	p.Q249R	ENST00000303965	NM_015230.3	249	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3441.1	746	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTGAAAC	NONE	.	.	.	.	.	ENSP00000302895	.	2/33	.	.	.	.	.	.	.	.	.	2/33	nonpreferredpair	ENST00000303965	Transcript	.	.	ENSG00000047365	16924	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.15)	.	tolerated(0.19)	.	ARAP2_HUMAN	ARAP2	HGNC	D6RAD6_HUMAN	.	UPI000013E917	SNV	ARAP2,missense_variant,p.Gln249Arg,ENST00000303965,;ARAP2,downstream_gene_variant,,ENST00000506189,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	1236	218	184	SUCCESS
TMED7-TICAM2	100302736	.	GRCh37	5	114952130	114952130	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs960731200	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	149	0	ENST00000282382.4:c.451T>C	p.Cys151Arg	p.C151R	ENST00000282382		151	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS54887.1	451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACAGGCAG	NONE	.	.	hmmpanther:PTHR22811:SF49,hmmpanther:PTHR22811,Pfam_domain:PF01105	.	.	ENSP00000282382	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000282382	Transcript	.	.	ENSG00000251201	33945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.01)	.	.	TMED7-TICAM2	HGNC	G3V2Y2_HUMAN	.	UPI00003779F1	SNV	TMED7-TICAM2,missense_variant,p.Cys151Arg,ENST00000282382,;TMED7,missense_variant,p.Cys151Arg,ENST00000456936,;TICAM2,missense_variant,p.Cys151Arg,ENST00000408996,;TMED7-TICAM2,missense_variant,p.Cys151Arg,ENST00000333314,;TMED7,downstream_gene_variant,,ENST00000508420,;AC010226.4,intron_variant,,ENST00000515570,;AC010226.4,intron_variant,,ENST00000508517,;TMED7,non_coding_transcript_exon_variant,,ENST00000503010,;TMED7-TICAM2,non_coding_transcript_exon_variant,,ENST00000514548,;	820	149	117	SUCCESS
DDX46	9879	.	GRCh37	5	134152221	134152221	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	71	0	ENST00000354283.4:c.2538T>A	p.Ala846=	p.A846=	ENST00000354283		846	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34240.1	2538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTGAGAA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158	.	.	ENSP00000346236	.	19/23	.	.	.	.	.	.	.	.	.	19/23	nonpreferredpair	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,synonymous_variant,p.%3D,ENST00000354283,;DDX46,synonymous_variant,p.%3D,ENST00000452510,;DDX46,3_prime_UTR_variant,,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000503946,;DDX46,upstream_gene_variant,,ENST00000507053,;	2673	72	63	SUCCESS
PDE6A	5145	.	GRCh37	5	149324082	149324082	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774005137	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	60	0	ENST00000255266.5:c.155C>T	p.Pro52Leu	p.P52L	ENST00000255266	NM_000440.2	52	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS4299.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGGGGAG	NONE	byFrequency	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347	.	.	ENSP00000255266	.	1/22	.	.	.	.	.	.	.	.	rs770854350,rs774005137	1/22	nonpreferredpair	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,missense_variant,p.Pro52Leu,ENST00000255266,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	275	60	45	SUCCESS
L3MBTL3	84456	.	GRCh37	6	130455007	130455007	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	82	0	ENST00000361794.2:c.2156G>C	p.Ser719Thr	p.S719T	ENST00000361794	NM_032438.2	719	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS34537.1	2156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGCTTAC	NONE	.	.	Superfamily_domains:SSF47769,SMART_domains:SM00454,Gene3D:1.10.150.50,Pfam_domain:PF00536,hmmpanther:PTHR12247:SF72,hmmpanther:PTHR12247,PROSITE_profiles:PS50105	.	.	ENSP00000431962	.	24/25	.	.	.	.	.	.	.	.	.	24/25	nonpreferredpair	ENST00000529410	Transcript	.	.	ENSG00000198945	23035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	tolerated(0.97)	.	LMBL3_HUMAN	L3MBTL3	HGNC	E9PLL7_HUMAN	.	UPI00001C1E3E	SNV	L3MBTL3,missense_variant,p.Ser694Thr,ENST00000533560,;L3MBTL3,missense_variant,p.Ser719Thr,ENST00000529410,;L3MBTL3,missense_variant,p.Ser719Thr,ENST00000361794,;L3MBTL3,missense_variant,p.Ser694Thr,ENST00000368139,;L3MBTL3,missense_variant,p.Ser694Thr,ENST00000526019,;L3MBTL3,missense_variant,p.Ser719Thr,ENST00000368136,;RP11-73O6.3,intron_variant,,ENST00000415964,;RP11-73O6.3,intron_variant,,ENST00000591297,;RP11-73O6.3,intron_variant,,ENST00000609978,;	2635	82	29	SUCCESS
TBC1D7	51256	.	GRCh37	6	13321159	13321159	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	43	0	ENST00000356436.4:c.362G>T	p.Arg121Leu	p.R121L	ENST00000356436	NM_001143965.2	121	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS4523.1	362	MUTECT|MUSE	.	GACTTCGAGGT	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR13530:SF2,hmmpanther:PTHR13530	.	.	ENSP00000475727	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000606214	Transcript	.	.	ENSG00000145979	21066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.33)	.	TBCD7_HUMAN	TBC1D7	HGNC	U3KQ23_HUMAN,Q5SZM2_HUMAN,Q5SZM1_HUMAN,Q5SZL8_HUMAN,Q5SZL4_HUMAN	.	UPI0000073B32	SNV	TBC1D7,missense_variant,p.Arg94Leu,ENST00000452989,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000356436,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000416436,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000379300,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000606370,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000446018,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000450347,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000343141,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000422136,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000379291,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000379307,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000606214,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000606541,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000428109,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000607658,;TBC1D7,missense_variant,p.Arg94Leu,ENST00000420456,;TBC1D7,downstream_gene_variant,,ENST00000607230,;TBC1D7,non_coding_transcript_exon_variant,,ENST00000607532,;TBC1D7,non_coding_transcript_exon_variant,,ENST00000607208,;TBC1D7,missense_variant,p.Arg121Leu,ENST00000421203,;	376	43	40	SUCCESS
PHACTR2	9749	.	GRCh37	6	143999268	143999268	+	intron_variant	Intron	SNP	T	T	C	rs1201579211	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	39	0	ENST00000427704.2:c.14-33885T>C		p.*5*	ENST00000427704	NM_014721.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47493.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCCGCTTGATC	NONE	.	.	.	.	.	ENSP00000417038	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000440869	Transcript	.	.	ENSG00000112419	20956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHAR2_HUMAN	PHACTR2	HGNC	.	.	UPI000020E355	SNV	PHACTR2,5_prime_UTR_variant,,ENST00000451827,;PHACTR2,5_prime_UTR_variant,,ENST00000440869,;PHACTR2,5_prime_UTR_variant,,ENST00000542769,;PHACTR2,5_prime_UTR_variant,,ENST00000397980,;PHACTR2,5_prime_UTR_variant,,ENST00000367582,;PHACTR2,intron_variant,,ENST00000427704,;PHACTR2,intron_variant,,ENST00000305766,;PHACTR2,intron_variant,,ENST00000367584,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000402863,;PHACTR2,upstream_gene_variant,,ENST00000545919,;	167	39	19	SUCCESS
UBR2	23304	.	GRCh37	6	42612241	42612241	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	108	0	ENST00000372899.1:c.2251G>A	p.Glu751Lys	p.E751K	ENST00000372899	NM_015255.2	751	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4870.1	2251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	20/47	.	.	.	.	.	.	.	.	.	20/47	nonpreferredpair	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Glu751Lys,ENST00000372901,;UBR2,missense_variant,p.Glu255Lys,ENST00000372883,;UBR2,missense_variant,p.Glu751Lys,ENST00000372899,;	2509	108	93	SUCCESS
KCP	375616	.	GRCh37	7	128517710	128517710	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	170	0	ENST00000476647.2:n.4489C>T		p.*1497*	ENST00000476647				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGCGACT	NONE	.	.	.	.	.	.	.	39/40	.	.	.	.	.	.	.	.	.	39/40	nonpreferredpair	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,intron_variant,,ENST00000297801,;KCP,intron_variant,,ENST00000460528,;KCP,intron_variant,,ENST00000492679,;	4489	170	96	SUCCESS
MRPS24	64951	.	GRCh37	7	43906467	43906467	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763480703	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	51	0	ENST00000317534.5:c.335G>A	p.Arg112His	p.R112H	ENST00000317534	NM_032014.2	112	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5473.1	335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGCTTT	NONE	byFrequency	.	Pfam_domain:PF14955,hmmpanther:PTHR21244	.	.	ENSP00000318158	.	4/4	.	.	.	.	.	.	.	.	rs763480703	4/4	nonpreferredpair	ENST00000317534	Transcript	.	.	ENSG00000062582	14510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	RT24_HUMAN	MRPS24	HGNC	.	.	UPI000006F034	SNV	MRPS24,missense_variant,p.Arg112His,ENST00000317534,;URGCP-MRPS24,3_prime_UTR_variant,,ENST00000603700,;MRPS24,non_coding_transcript_exon_variant,,ENST00000467084,;MRPS24,3_prime_UTR_variant,,ENST00000418740,;MRPS24,non_coding_transcript_exon_variant,,ENST00000483330,;MRPS24,downstream_gene_variant,,ENST00000414932,;	397	51	49	SUCCESS
GCK	2645	.	GRCh37	7	44198813	44198813	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	18	0	ENST00000403799.3:c.46-5751G>T		p.*16*	ENST00000403799	NM_000162.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5480.1	.	MUTECT|MUSE	.	AAGGCCCGCCT	NONE	.	.	.	.	.	ENSP00000223366	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000345378	Transcript	.	.	ENSG00000106633	4195	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXK4_HUMAN	GCK	HGNC	M4PS83_HUMAN,M4PPE1_HUMAN	.	UPI000002AB76	SNV	GCK,5_prime_UTR_variant,,ENST00000345378,;GCK,5_prime_UTR_variant,,ENST00000395796,;GCK,intron_variant,,ENST00000403799,;GCK,intron_variant,,ENST00000437084,;GCK,intron_variant,,ENST00000476008,;	69	18	15	SUCCESS
COBL	23242	.	GRCh37	7	51287547	51287547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs566661748	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	52	0	ENST00000265136.7:c.136G>A	p.Gly46Arg	p.G46R	ENST00000265136	NM_015198.3	46	Ggg/Agg	0	.	T:0.0008	.	T:0	.	T	G/R	protein_coding	YES	CCDS34637.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCCGAGGG	NONE	by1000G	.	hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	T:0	.	ENSP00000265136	T:0	2/13	.	.	.	.	.	.	.	.	rs566661748	2/13	nonpreferredpair	ENST00000265136	Transcript	.	T:0.0002	ENSG00000106078	22199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	T:0	tolerated(0.12)	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,missense_variant,p.Gly46Arg,ENST00000395540,;COBL,missense_variant,p.Gly30Arg,ENST00000449281,;COBL,missense_variant,p.Gly46Arg,ENST00000265136,;COBL,missense_variant,p.Gly46Arg,ENST00000395542,;COBL,missense_variant,p.Gly46Arg,ENST00000441453,;	302	52	58	SUCCESS
SEMA3A	10371	.	GRCh37	7	83592651	83592651	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	75	0	ENST00000265362.4:c.1730G>A	p.Gly577Asp	p.G577D	ENST00000265362	NM_006080.2	577	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5599.1	1730	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCATGG	NONE	.	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036	.	.	ENSP00000265362	.	16/17	.	.	.	.	.	.	.	.	COSM1092471	16/17	nonpreferredpair	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.227)	.	tolerated(0.26)	1	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Gly577Asp,ENST00000265362,;SEMA3A,missense_variant,p.Gly577Asp,ENST00000436949,;	2045	75	58	SUCCESS
ADCY8	114	.	GRCh37	8	131848681	131848681	+	synonymous_variant	Silent	SNP	C	C	A	rs755447347	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	60	0	ENST00000286355.5:c.2517G>T	p.Thr839=	p.T839=	ENST00000286355	NM_001115.2	839	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6363.1	2517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCGTGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	12/18	.	.	.	.	.	.	.	.	rs755447347	12/18	nonpreferredpair	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;	4610	60	53	SUCCESS
DLC1	10395	.	GRCh37	8	13259101	13259101	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144283917	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	103	0	ENST00000276297.4:c.1051C>T	p.Arg351Trp	p.R351W	ENST00000276297	NM_182643.2	351	Cgg/Tgg	0	A:0.0002	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS5989.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCGCCC	BUFFER|p.R347R|c.1041A>G|5,BUFFER|p.R347R|c.1041A>G|5,BUFFER|p.R347R|c.1041A>G|5	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2	A:0.001	A:0	ENSP00000276297	A:0	3/18	.	.	.	.	.	.	.	.	rs144283917,COSM244049,COSM244050	3/18	nonpreferredpair	ENST00000276297	Transcript	.	A:0.0004	ENSG00000164741	2897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.994)	A:0	deleterious_low_confidence(0.02)	0,1,1	RHG07_HUMAN	DLC1	HGNC	.	.	UPI0000210275	SNV	DLC1,missense_variant,p.Arg351Trp,ENST00000511869,;DLC1,missense_variant,p.Arg351Trp,ENST00000276297,;DLC1,missense_variant,p.Arg351Trp,ENST00000316609,;	1461	103	54	SUCCESS
RB1CC1	9821	.	GRCh37	8	53536345	53536345	+	synonymous_variant	Silent	SNP	T	T	C	rs145350535	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	80	0	ENST00000025008.5:c.4782A>G	p.Val1594=	p.V1594=	ENST00000025008	NM_014781.4	1594	gtA/gtG	0	C:0.0002	.	.	.	.	C	V	protein_coding	YES	CCDS34892.1	4782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATACTTT	NONE	byCluster	.	hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	.	C:0	ENSP00000025008	.	24/24	.	.	.	.	.	.	.	.	rs145350535	24/24	nonpreferredpair	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,synonymous_variant,p.%3D,ENST00000025008,;RB1CC1,synonymous_variant,p.%3D,ENST00000539297,;RB1CC1,synonymous_variant,p.%3D,ENST00000435644,;RB1CC1,intron_variant,,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,non_coding_transcript_exon_variant,,ENST00000522957,;	5306	80	95	SUCCESS
HEY1	23462	.	GRCh37	8	80679323	80679323	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	64	0	ENST00000354724.3:c.170T>G	p.Ile57Ser	p.I57S	ENST00000354724	NM_012258.3	57	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS43749.1	170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAATTATC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50888,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF78,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000338272	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000337919	Transcript	.	.	ENSG00000164683	4880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HEY1_HUMAN	HEY1	HGNC	.	.	UPI000014195F	SNV	HEY1,missense_variant,p.Ile57Ser,ENST00000354724,;HEY1,missense_variant,p.Ile57Ser,ENST00000337919,;HEY1,missense_variant,p.Ile19Ser,ENST00000518733,;HEY1,upstream_gene_variant,,ENST00000523976,;RP11-26J3.1,downstream_gene_variant,,ENST00000502766,;RP11-27N21.3,upstream_gene_variant,,ENST00000607172,;HEY1,upstream_gene_variant,,ENST00000435063,;HEY1,non_coding_transcript_exon_variant,,ENST00000523531,;HEY1,non_coding_transcript_exon_variant,,ENST00000521111,;HEY1,non_coding_transcript_exon_variant,,ENST00000519075,;	364	64	75	SUCCESS
SPTAN1	6709	.	GRCh37	9	131386761	131386761	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	44	0	ENST00000372731.4:c.5972G>T	p.Trp1991Leu	p.W1991L	ENST00000372731	NM_003127.3	1991	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS48036.1	5987	MUTECT|MUSE	.	GTCCTGGATCG	NONE	.	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	46/57	.	.	.	.	.	.	.	.	.	46/57	nonpreferredpair	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Trp1996Leu,ENST00000372739,;SPTAN1,missense_variant,p.Trp1996Leu,ENST00000358161,;SPTAN1,missense_variant,p.Trp1991Leu,ENST00000372731,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000491712,;	6097	44	25	SUCCESS
C9orf64	84267	.	GRCh37	9	86571248	86571248	+	synonymous_variant	Silent	SNP	G	G	A	rs560017514	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	80	0	ENST00000376344.3:c.168C>T	p.Asn56=	p.N56=	ENST00000376344	NM_032307.3	56	aaC/aaT	0	.	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS6666.2	168	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGTTCAG	NONE	by1000G	.	hmmpanther:PTHR21314:SF0,hmmpanther:PTHR21314,Pfam_domain:PF10343	A:0	.	ENSP00000365522	A:0	1/4	.	.	.	.	.	.	.	.	rs560017514	1/4	nonpreferredpair	ENST00000376344	Transcript	.	A:0.0002	ENSG00000165118	28144	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CI064_HUMAN	C9orf64	HGNC	Q5T6V7_HUMAN	.	UPI000013E45E	SNV	C9orf64,synonymous_variant,p.%3D,ENST00000376344,;C9orf64,intron_variant,,ENST00000314700,;C9orf64,upstream_gene_variant,,ENST00000376340,;	385	80	52	SUCCESS
NUDT11	55190	.	GRCh37	X	51238814	51238814	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	120	189	0	ENST00000375992.3:c.483T>G	p.Asp161Glu	p.D161E	ENST00000375992	NM_018159.3	161	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS43952.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTATCTGG	NONE	.	.	hmmpanther:PTHR12629,hmmpanther:PTHR12629:SF3	.	.	ENSP00000365160	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000375992	Transcript	.	.	ENSG00000196368	18011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.23)	.	NUD11_HUMAN	NUDT11	HGNC	.	.	UPI000007085D	SNV	NUDT11,missense_variant,p.Asp161Glu,ENST00000375992,;	635	189	205	SUCCESS
ZC4H2	55906	.	GRCh37	X	64196327	64196327	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	23	43	0	ENST00000374839.3:c.-70T>C		p.*24*	ENST00000374839	NM_018684.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14380.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAATGTAG	NONE	.	.	.	.	.	ENSP00000363972	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000374839	Transcript	.	.	ENSG00000126970	24931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC4H2_HUMAN	ZC4H2	HGNC	.	.	UPI0000025CAA	SNV	ZC4H2,5_prime_UTR_variant,,ENST00000374839,;ZC4H2,5_prime_UTR_variant,,ENST00000447788,;ZC4H2,5_prime_UTR_variant,,ENST00000545618,;ZC4H2,intron_variant,,ENST00000337990,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000492653,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488608,;ZC4H2,intron_variant,,ENST00000488831,;ZC4H2,upstream_gene_variant,,ENST00000476032,;	38	43	40	SUCCESS
ZNF511	118472	.	GRCh37	10	135123793	135123793	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs773215223	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	33	0	ENST00000359035.3:c.554+1G>A		p.X185_splice	ENST00000359035		185		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7677.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGTAGGG	NONE	.	.	.	.	.	ENSP00000355251	.	.	.	.	.	.	.	.	.	.	rs773215223	.	PASS	ENST00000361518	Transcript	.	.	ENSG00000198546	28445	.	.	HIGH	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN511_HUMAN	ZNF511	HGNC	.	.	UPI000006FF8A	SNV	ZNF511,splice_donor_variant,,ENST00000361518,;ZNF511,splice_donor_variant,,ENST00000359035,;ZNF511,splice_donor_variant,,ENST00000368554,;TUBGCP2,upstream_gene_variant,,ENST00000417178,;TUBGCP2,upstream_gene_variant,,ENST00000368563,;ZNF511,splice_donor_variant,,ENST00000463816,;TUBGCP2,upstream_gene_variant,,ENST00000470829,;ZNF511,non_coding_transcript_exon_variant,,ENST00000482153,;TUBGCP2,intron_variant,,ENST00000482278,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;	.	33	40	SUCCESS
FAM35BP	0	.	GRCh37	10	46918233	46918233	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	68	0	ENST00000497389.2:n.1752C>G		p.*584*	ENST00000497389				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCTACCT	NONE	.	1003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605984	Transcript	.	.	ENSG00000272430	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-38L15.8	Clone_based_vega_gene	.	.	.	SNV	RP11-38L15.8,upstream_gene_variant,,ENST00000605984,;FAM35BP,non_coding_transcript_exon_variant,,ENST00000475914,;FAM35BP,non_coding_transcript_exon_variant,,ENST00000497389,;FAM35BP,non_coding_transcript_exon_variant,,ENST00000539388,;RHEBP1,downstream_gene_variant,,ENST00000448647,;	.	68	63	SUCCESS
VCL	7414	.	GRCh37	10	75854142	75854142	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	10	224	0	ENST00000211998.4:c.1466C>T	p.Ala489Val	p.A489V	ENST00000211998	NM_014000.2	489	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7341.1	1466	MUTECT|MUSE	.	CAAAGCAGCTG	NONE	.	.	hmmpanther:PTHR18914:SF22,hmmpanther:PTHR18914,Pfam_domain:PF01044	.	.	ENSP00000211998	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000211998	Transcript	1	.	ENSG00000035403	12665	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.683)	.	tolerated(0.27)	.	VINC_HUMAN	VCL	HGNC	Q5JQ13_HUMAN	.	UPI0000167B54	SNV	VCL,missense_variant,p.Ala161Val,ENST00000436396,;VCL,missense_variant,p.Ala489Val,ENST00000211998,;VCL,missense_variant,p.Ala489Val,ENST00000372755,;VCL,intron_variant,,ENST00000417648,;VCL,intron_variant,,ENST00000478896,;	1560	224	201	SUCCESS
TSG101	7251	.	GRCh37	11	18502150	18502150	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	44	193	0	ENST00000251968.3:c.1116G>A	p.Gln372=	p.Q372=	ENST00000251968	NM_006292.3	372	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS7842.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGCTGGAA	NONE	.	.	PROSITE_profiles:PS51312,hmmpanther:PTHR23306:SF17,hmmpanther:PTHR23306,Pfam_domain:PF09454,Superfamily_domains:SSF140111	.	.	ENSP00000251968	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000251968	Transcript	.	.	ENSG00000074319	15971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TS101_HUMAN	TSG101	HGNC	L0L6B6_HUMAN,J3QRU6_HUMAN,D3DQY6_HUMAN	.	UPI000004750C	SNV	TSG101,synonymous_variant,p.%3D,ENST00000251968,;TSG101,synonymous_variant,p.%3D,ENST00000357193,;TSG101,intron_variant,,ENST00000536719,;LDHAL6A,downstream_gene_variant,,ENST00000396213,;LDHAL6A,downstream_gene_variant,,ENST00000280706,;TSG101,synonymous_variant,p.%3D,ENST00000584526,;TSG101,synonymous_variant,p.%3D,ENST00000580814,;TSG101,downstream_gene_variant,,ENST00000543054,;TSG101,downstream_gene_variant,,ENST00000540555,;TSG101,downstream_gene_variant,,ENST00000545247,;	1532	194	115	SUCCESS
PTPN5	84867	.	GRCh37	11	18754887	18754887	+	synonymous_variant	Silent	SNP	G	G	A	rs144666949	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	89	0	ENST00000358540.2:c.1113C>T	p.Ala371=	p.A371=	ENST00000358540	NM_006906.1	371	gcC/gcT	0	A:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS7845.1	1113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTGGCGAT	NONE	byCluster	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	A:0	ENSP00000351342	.	11/15	.	.	.	.	.	.	.	.	rs144666949	11/15	PASS	ENST00000358540	Transcript	.	.	ENSG00000110786	9657	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN5_HUMAN	PTPN5	HGNC	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN	.	UPI00001AE663	SNV	PTPN5,synonymous_variant,p.%3D,ENST00000396167,;PTPN5,synonymous_variant,p.%3D,ENST00000396171,;PTPN5,synonymous_variant,p.%3D,ENST00000358540,;PTPN5,synonymous_variant,p.%3D,ENST00000396168,;PTPN5,synonymous_variant,p.%3D,ENST00000477854,;PTPN5,synonymous_variant,p.%3D,ENST00000396170,;PTPN5,upstream_gene_variant,,ENST00000396166,;RP11-1081L13.4,intron_variant,,ENST00000527285,;	1544	89	74	SUCCESS
MS4A4A	51338	.	GRCh37	11	60073590	60073590	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	322	79	592	0	ENST00000337908.4:c.564G>A	p.Val188=	p.V188=	ENST00000337908	NM_148975.2	188	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7982.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGCTCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF35,Pfam_domain:PF04103	.	.	ENSP00000338648	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000337908	Transcript	.	.	ENSG00000110079	13371	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	M4A4A_HUMAN	MS4A4A	HGNC	.	.	UPI0000055AE7	SNV	MS4A4A,synonymous_variant,p.%3D,ENST00000532114,;MS4A4A,synonymous_variant,p.%3D,ENST00000395016,;MS4A4A,synonymous_variant,p.%3D,ENST00000337908,;MS4A4A,synonymous_variant,p.%3D,ENST00000355131,;MS4A4A,3_prime_UTR_variant,,ENST00000343968,;MS4A4A,non_coding_transcript_exon_variant,,ENST00000529991,;MS4A4A,downstream_gene_variant,,ENST00000527056,;MS4A4A,downstream_gene_variant,,ENST00000529950,;	654	593	402	SUCCESS
MS4A8	83661	.	GRCh37	11	60476245	60476245	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	48	219	0	ENST00000300226.2:c.525C>A	p.Ala175=	p.A175=	ENST00000300226	NM_031457.1	175	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7990.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGCCTGGGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF14,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	.	ENSP00000300226	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000300226	Transcript	.	.	ENSG00000166959	13380	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4A8_HUMAN	MS4A8	HGNC	.	.	UPI0000047F97	SNV	MS4A8,synonymous_variant,p.%3D,ENST00000300226,;MS4A8,synonymous_variant,p.%3D,ENST00000525458,;MS4A8,intron_variant,,ENST00000529752,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533354,;MS4A8,non_coding_transcript_exon_variant,,ENST00000532953,;MS4A8,non_coding_transcript_exon_variant,,ENST00000450141,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533691,;	728	219	139	SUCCESS
RCOR2	283248	.	GRCh37	11	63680389	63680389	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	90	0	ENST00000301459.4:c.922C>T	p.Leu308=	p.L308=	ENST00000301459	NM_173587.3	308	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8052.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCAGGCTGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF12	.	.	ENSP00000301459	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000301459	Transcript	.	.	ENSG00000167771	27455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCOR2_HUMAN	RCOR2	HGNC	.	.	UPI000016194C	SNV	RCOR2,synonymous_variant,p.%3D,ENST00000301459,;MARK2,downstream_gene_variant,,ENST00000509502,;MARK2,downstream_gene_variant,,ENST00000315032,;MARK2,downstream_gene_variant,,ENST00000502399,;MARK2,downstream_gene_variant,,ENST00000425897,;MARK2,downstream_gene_variant,,ENST00000361128,;MARK2,downstream_gene_variant,,ENST00000408948,;MARK2,downstream_gene_variant,,ENST00000402010,;MARK2,downstream_gene_variant,,ENST00000377810,;MARK2,downstream_gene_variant,,ENST00000413835,;MARK2,downstream_gene_variant,,ENST00000513765,;MARK2,downstream_gene_variant,,ENST00000508192,;MARK2,downstream_gene_variant,,ENST00000377809,;MARK2,downstream_gene_variant,,ENST00000350490,;RCOR2,upstream_gene_variant,,ENST00000473926,;RCOR2,non_coding_transcript_exon_variant,,ENST00000489217,;	1310	90	45	SUCCESS
SLC22A11	55867	.	GRCh37	11	64323631	64323631	+	synonymous_variant	Silent	SNP	C	C	T	rs776086473	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	157	0	ENST00000301891.4:c.160C>T	p.Leu54=	p.L54=	ENST00000301891	NM_018484.2	54	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8074.1	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCTGGAC	NONE	.	.	hmmpanther:PTHR24064:SF39,hmmpanther:PTHR24064	.	.	ENSP00000301891	.	1/10	.	.	.	.	.	.	.	.	rs776086473	1/10	PASS	ENST00000301891	Transcript	.	.	ENSG00000168065	18120	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AB_HUMAN	SLC22A11	HGNC	.	.	UPI000003ED3F	SNV	SLC22A11,synonymous_variant,p.%3D,ENST00000377581,;SLC22A11,synonymous_variant,p.%3D,ENST00000377585,;SLC22A11,synonymous_variant,p.%3D,ENST00000301891,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000490834,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000478051,;	534	157	79	SUCCESS
PPFIBP2	8495	.	GRCh37	11	7670813	7670813	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	63	284	0	ENST00000299492.4:c.2049C>G	p.Ile683Met	p.I683M	ENST00000299492	NM_003621.3	683	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS31419.1	2049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCAAATG	NONE	.	.	Superfamily_domains:SSF47769,SMART_domains:SM00454,Gene3D:1.10.150.50,Pfam_domain:PF00536,hmmpanther:PTHR12587:SF18,hmmpanther:PTHR12587,PROSITE_profiles:PS50105	.	.	ENSP00000299492	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000299492	Transcript	.	.	ENSG00000166387	9250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LIPB2_HUMAN	PPFIBP2	HGNC	E9PP16_HUMAN,E9PMN3_HUMAN,E9PMH3_HUMAN,E9PK17_HUMAN,E9PJA0_HUMAN,E9PIK8_HUMAN,B3KM46_HUMAN	.	UPI00001C1EF8	SNV	PPFIBP2,missense_variant,p.Ile571Met,ENST00000528883,;PPFIBP2,missense_variant,p.Ile540Met,ENST00000530181,;PPFIBP2,missense_variant,p.Ile683Met,ENST00000299492,;PPFIBP2,missense_variant,p.Ile525Met,ENST00000533792,;PPFIBP2,upstream_gene_variant,,ENST00000534552,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000530582,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000524495,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000528929,;PPFIBP2,upstream_gene_variant,,ENST00000529664,;PPFIBP2,downstream_gene_variant,,ENST00000532112,;	2437	284	180	SUCCESS
SCUBE2	57758	.	GRCh37	11	9069079	9069079	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756925394	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	16	200	0	ENST00000520467.1:c.1826G>T	p.Arg609Leu	p.R609L	ENST00000520467	NM_020974.2	609	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7797.2	1826	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTTCGCTTT	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF3	.	.	ENSP00000429969	.	16/22	.	.	.	.	.	.	.	.	rs756925394,COSM932998	16/22	PASS	ENST00000520467	Transcript	.	.	ENSG00000175356	30425	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.022)	.	deleterious(0.01)	0,1	SCUB2_HUMAN	SCUBE2	HGNC	.	.	UPI0001E5E848	SNV	SCUBE2,missense_variant,p.Arg609Leu,ENST00000457346,;SCUBE2,missense_variant,p.Arg454Leu,ENST00000450649,;SCUBE2,missense_variant,p.Arg580Leu,ENST00000309263,;SCUBE2,missense_variant,p.Arg609Leu,ENST00000520467,;RP11-467K18.2,intron_variant,,ENST00000531592,;SCUBE2,downstream_gene_variant,,ENST00000530265,;	1897	200	150	SUCCESS
KIAA1731	0	.	GRCh37	11	93462654	93462654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	77	0	ENST00000325212.6:c.7357G>A	p.Val2453Ile	p.V2453I	ENST00000325212		2453	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS44708.1	7357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGTATCA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.49)	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,missense_variant,p.Val465Ile,ENST00000531404,;KIAA1731,missense_variant,p.Val633Ile,ENST00000344196,;KIAA1731,missense_variant,p.Val2453Ile,ENST00000325212,;KIAA1731,missense_variant,p.Val2453Ile,ENST00000411936,;KIAA1731,missense_variant,p.Val633Ile,ENST00000531700,;KIAA1731,downstream_gene_variant,,ENST00000529185,;SNORA1,downstream_gene_variant,,ENST00000384107,;MIR1304,downstream_gene_variant,,ENST00000408243,;SNORD5,downstream_gene_variant,,ENST00000459342,;SNORA8,downstream_gene_variant,,ENST00000384574,;SNORA32,downstream_gene_variant,,ENST00000384072,;SNORD6,downstream_gene_variant,,ENST00000365444,;SNORA18,downstream_gene_variant,,ENST00000384416,;SNORA25,downstream_gene_variant,,ENST00000384384,;TAF1D,downstream_gene_variant,,ENST00000546088,;TAF1D,downstream_gene_variant,,ENST00000530089,;TAF1D,downstream_gene_variant,,ENST00000533794,;TAF1D,downstream_gene_variant,,ENST00000527068,;TAF1D,downstream_gene_variant,,ENST00000540232,;TAF1D,downstream_gene_variant,,ENST00000529794,;TAF1D,downstream_gene_variant,,ENST00000393259,;TAF1D,downstream_gene_variant,,ENST00000526015,;TAF1D,downstream_gene_variant,,ENST00000530769,;TAF1D,downstream_gene_variant,,ENST00000323981,;TAF1D,downstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000529900,;TAF1D,downstream_gene_variant,,ENST00000527169,;TAF1D,downstream_gene_variant,,ENST00000534079,;TAF1D,downstream_gene_variant,,ENST00000525928,;	7519	77	72	SUCCESS
WSB2	55884	.	GRCh37	12	118472835	118472835	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	8	95	0	ENST00000315436.3:c.1008G>C	p.Gly336=	p.G336=	ENST00000315436	NM_018639.4	336	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS9186.1	1008	MUTECT|MUSE|VARSCANS	.	CAAAGCCCATT	NONE	.	.	hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000319474	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000315436	Transcript	.	.	ENSG00000176871	19222	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WSB2_HUMAN	WSB2	HGNC	B4DPV6_HUMAN,B4DFS1_HUMAN	.	UPI0000031565	SNV	WSB2,synonymous_variant,p.%3D,ENST00000535496,;WSB2,synonymous_variant,p.%3D,ENST00000544233,;WSB2,synonymous_variant,p.%3D,ENST00000542304,;WSB2,synonymous_variant,p.%3D,ENST00000441406,;WSB2,synonymous_variant,p.%3D,ENST00000315436,;WSB2,downstream_gene_variant,,ENST00000537945,;RFC5,downstream_gene_variant,,ENST00000229043,;RFC5,downstream_gene_variant,,ENST00000392542,;RFC5,downstream_gene_variant,,ENST00000454402,;RFC5,downstream_gene_variant,,ENST00000543153,;WSB2,downstream_gene_variant,,ENST00000536738,;WSB2,3_prime_UTR_variant,,ENST00000543218,;WSB2,non_coding_transcript_exon_variant,,ENST00000540129,;WSB2,downstream_gene_variant,,ENST00000543186,;	1150	95	96	SUCCESS
PKP2	5318	.	GRCh37	12	33031343	33031343	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	12	120	0	ENST00000070846.6:c.471G>A	p.Glu157=	p.E157=	ENST00000070846	NM_004572.3	157	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8731.1	471	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCTCCGG	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25	.	.	ENSP00000070846	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000070846	Transcript	.	.	ENSG00000057294	9024	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PKP2_HUMAN	PKP2	HGNC	.	.	UPI000013C576	SNV	PKP2,synonymous_variant,p.%3D,ENST00000340811,;PKP2,synonymous_variant,p.%3D,ENST00000070846,;	496	120	92	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42866333	42866333	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	110	0	ENST00000345127.3:c.-15C>A		p.*5*	ENST00000345127	NM_153026.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8742.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGGTTTC	NONE	.	.	.	.	.	ENSP00000401060	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,5_prime_UTR_variant,,ENST00000547113,;PRICKLE1,5_prime_UTR_variant,,ENST00000345127,;PRICKLE1,5_prime_UTR_variant,,ENST00000551050,;PRICKLE1,5_prime_UTR_variant,,ENST00000455697,;PRICKLE1,5_prime_UTR_variant,,ENST00000445766,;PRICKLE1,5_prime_UTR_variant,,ENST00000552240,;PRICKLE1,5_prime_UTR_variant,,ENST00000552108,;PRICKLE1,5_prime_UTR_variant,,ENST00000548696,;	272	110	57	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43847742	43847742	+	synonymous_variant	Silent	SNP	G	G	A	rs774057715	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	42	99	0	ENST00000389420.3:c.1728C>T	p.Ile576=	p.I576=	ENST00000389420	NM_025003.3	576	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31778.2	1728	RADIA|MUTECT|MUSE	.	CTTTCGATTCC	NONE	byFrequency	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857	.	.	ENSP00000374071	.	12/39	.	.	.	.	.	.	.	.	rs774057715	12/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;	1728	99	69	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43847776	43847776	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	46	104	0	ENST00000389420.3:c.1694A>G	p.Tyr565Cys	p.Y565C	ENST00000389420	NM_025003.3	565	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS31778.2	1694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTAAGGT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857	.	.	ENSP00000374071	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Tyr565Cys,ENST00000553158,;ADAMTS20,missense_variant,p.Tyr565Cys,ENST00000389420,;	1694	104	78	SUCCESS
SHMT2	6472	.	GRCh37	12	57625269	57625269	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	72	164	0	ENST00000328923.3:c.237C>A	p.Phe79Leu	p.F79L	ENST00000328923	NM_005412.5	79	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS8934.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCTGCAG	NONE	.	.	HAMAP:MF_00051,hmmpanther:PTHR11680:SF1,hmmpanther:PTHR11680,Gene3D:3.40.640.10,Pfam_domain:PF00464,PIRSF_domain:PIRSF000412,Superfamily_domains:SSF53383	.	.	ENSP00000333667	.	3/12	.	.	.	.	.	.	.	.	COSM3359863	3/12	PASS	ENST00000328923	Transcript	.	.	ENSG00000182199	10852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.978)	.	deleterious(0.01)	1	GLYM_HUMAN	SHMT2	HGNC	G3V5L0_HUMAN,G3V4X0_HUMAN,G3V4T0_HUMAN,G3V3Y8_HUMAN,G3V2Y4_HUMAN,G3V2W0_HUMAN,G3V241_HUMAN	.	UPI000000DA76	SNV	SHMT2,missense_variant,p.Phe58Leu,ENST00000414700,;SHMT2,missense_variant,p.Phe58Leu,ENST00000554975,;SHMT2,missense_variant,p.Phe58Leu,ENST00000557427,;SHMT2,missense_variant,p.Phe79Leu,ENST00000557487,;SHMT2,missense_variant,p.Phe58Leu,ENST00000553529,;SHMT2,missense_variant,p.Phe79Leu,ENST00000328923,;SHMT2,missense_variant,p.Phe58Leu,ENST00000449049,;SHMT2,missense_variant,p.Phe58Leu,ENST00000554310,;SHMT2,missense_variant,p.Phe58Leu,ENST00000555773,;SHMT2,missense_variant,p.Phe58Leu,ENST00000556737,;SHMT2,missense_variant,p.Phe79Leu,ENST00000556689,;SHMT2,missense_variant,p.Phe58Leu,ENST00000557703,;SHMT2,missense_variant,p.Phe58Leu,ENST00000553474,;SHMT2,intron_variant,,ENST00000393827,;SHMT2,intron_variant,,ENST00000555634,;NDUFA4L2,downstream_gene_variant,,ENST00000554503,;SHMT2,upstream_gene_variant,,ENST00000557529,;NDUFA4L2,downstream_gene_variant,,ENST00000556732,;NDUFA4L2,downstream_gene_variant,,ENST00000393825,;Y_RNA,downstream_gene_variant,,ENST00000365197,;SHMT2,non_coding_transcript_exon_variant,,ENST00000554600,;SHMT2,non_coding_transcript_exon_variant,,ENST00000554656,;SHMT2,intron_variant,,ENST00000553949,;SHMT2,intron_variant,,ENST00000557740,;SHMT2,missense_variant,p.Phe58Leu,ENST00000553837,;SHMT2,missense_variant,p.Phe79Leu,ENST00000557433,;SHMT2,missense_variant,p.Phe58Leu,ENST00000554604,;SHMT2,non_coding_transcript_exon_variant,,ENST00000553868,;SHMT2,non_coding_transcript_exon_variant,,ENST00000553950,;SHMT2,non_coding_transcript_exon_variant,,ENST00000555213,;SHMT2,non_coding_transcript_exon_variant,,ENST00000554467,;SHMT2,intron_variant,,ENST00000556825,;SHMT2,intron_variant,,ENST00000557269,;SHMT2,intron_variant,,ENST00000557348,;SHMT2,intron_variant,,ENST00000555563,;SHMT2,intron_variant,,ENST00000555774,;SHMT2,intron_variant,,ENST00000555116,;SHMT2,intron_variant,,ENST00000553324,;SHMT2,downstream_gene_variant,,ENST00000557302,;NDUFA4L2,downstream_gene_variant,,ENST00000555173,;SHMT2,upstream_gene_variant,,ENST00000556798,;NDUFA4L2,downstream_gene_variant,,ENST00000554688,;	689	164	133	SUCCESS
COG6	57511	.	GRCh37	13	40293426	40293426	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	198	0	ENST00000455146.3:c.1338C>T	p.Leu446=	p.L446=	ENST00000455146	NM_020751.2	446	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9370.1	1338	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTCATGTT	NONE	.	.	hmmpanther:PTHR21506,Pfam_domain:PF06419,SMART_domains:SM01087	.	.	ENSP00000397441	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000455146	Transcript	.	.	ENSG00000133103	18621	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COG6_HUMAN	COG6	HGNC	B4DG73_HUMAN	.	UPI000019271E	SNV	COG6,synonymous_variant,p.%3D,ENST00000455146,;COG6,synonymous_variant,p.%3D,ENST00000416691,;COG6,3_prime_UTR_variant,,ENST00000356576,;	1388	198	129	SUCCESS
FOXO1	2308	.	GRCh37	13	41239792	41239792	+	synonymous_variant	Silent	SNP	G	G	A	rs754690688	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	60	294	0	ENST00000379561.5:c.558C>T	p.Ile186=	p.I186=	ENST00000379561	NM_002015.3	186	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS9371.1	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTAGATCTG	NONE	byFrequency	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000368880	.	1/3	.	.	.	.	.	.	.	.	rs754690688	1/3	PASS	ENST00000379561	Transcript	.	.	ENSG00000150907	3819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXO1_HUMAN	FOXO1	HGNC	.	.	UPI000013DC20	SNV	FOXO1,synonymous_variant,p.%3D,ENST00000379561,;	943	294	159	SUCCESS
TRAV26-1	28657	.	GRCh37	14	22592228	22592228	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	22	0	ENST00000390455.3:c.313T>C	p.Cys105Arg	p.C105R	ENST00000390455		105	Tgc/Cgc	0	.	.	.	.	.	C	C/R	TR_V_gene	YES	.	313	RADIA|MUTECT|MUSE|VARSCANS	.	ACTATTGCATC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19433:SF59,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000452431	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390455	Transcript	.	.	ENSG00000211807	12123	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	TRAV26-1	HGNC	.	.	UPI000011D129	SNV	TRAV26-1,missense_variant,p.Cys105Arg,ENST00000390455,;	522	22	19	SUCCESS
HOMEZ	57594	.	GRCh37	14	23745570	23745570	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	15	122	0	ENST00000357460.5:c.867T>C	p.Ser289=	p.S289=	ENST00000357460	NM_020834.2	289	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS45085.1	867	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAGAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15467	.	.	ENSP00000350049	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357460	Transcript	.	.	ENSG00000215271	20164	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HOMEZ_HUMAN	HOMEZ	HGNC	B4DLB7_HUMAN	.	UPI0000EE4A53	SNV	HOMEZ,synonymous_variant,p.%3D,ENST00000431326,;HOMEZ,synonymous_variant,p.%3D,ENST00000561013,;HOMEZ,synonymous_variant,p.%3D,ENST00000606731,;HOMEZ,synonymous_variant,p.%3D,ENST00000357460,;HOMEZ,downstream_gene_variant,,ENST00000606006,;C14orf164,downstream_gene_variant,,ENST00000399905,;C14orf164,downstream_gene_variant,,ENST00000492621,;C14orf164,downstream_gene_variant,,ENST00000399910,;C14orf164,downstream_gene_variant,,ENST00000430154,;C14orf164,downstream_gene_variant,,ENST00000492355,;C14orf164,downstream_gene_variant,,ENST00000470818,;	1032	122	110	SUCCESS
SLC22A17	51310	.	GRCh37	14	23816000	23816000	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	41	0	ENST00000206544.8:c.1474C>A	p.Leu492Met	p.L492M	ENST00000206544	NM_020372.2	492	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9593.1	1474	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCATAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000380437	.	10/10	.	.	.	.	.	.	.	.	.	10/10	oxog	ENST00000397267	Transcript	.	.	ENSG00000092096	23095	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S22AH_HUMAN	SLC22A17	HGNC	.	.	UPI0000126A49	SNV	SLC22A17,missense_variant,p.Leu474Met,ENST00000354772,;SLC22A17,missense_variant,p.Leu492Met,ENST00000206544,;SLC22A17,missense_variant,p.Leu492Met,ENST00000397267,;SLC22A17,missense_variant,p.Leu363Met,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,downstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000556803,;SLC22A17,downstream_gene_variant,,ENST00000557699,;	1937	41	36	SUCCESS
VASH1	22846	.	GRCh37	14	77237533	77237533	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs202147705	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	89	407	0	ENST00000167106.4:c.399G>A		p.X133_splice	ENST00000167106	NM_014909.4	133	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS9851.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGTACAA	NONE	.	.	Pfam_domain:PF14822,hmmpanther:PTHR15750:SF3,hmmpanther:PTHR15750	.	.	ENSP00000167106	.	3/7	.	.	.	.	.	.	.	.	rs202147705,COSM219526,COSM219527	3/7	PASS	ENST00000167106	Transcript	.	.	ENSG00000071246	19964	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	VASH1_HUMAN	VASH1	HGNC	.	.	UPI0000073F7C	SNV	VASH1,synonymous_variant,p.%3D,ENST00000167106,;VASH1,synonymous_variant,p.%3D,ENST00000554237,;RP11-488C13.6,downstream_gene_variant,,ENST00000556368,;VASH1,splice_region_variant,,ENST00000553518,;VASH1,splice_region_variant,,ENST00000556038,;	1032	407	327	SUCCESS
POMT2	29954	.	GRCh37	14	77746806	77746806	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	76	239	0	ENST00000261534.4:c.1654G>T	p.Gly552Trp	p.G552W	ENST00000261534	NM_013382.5	552	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS9857.1	1654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCCTGCA	NONE	.	.	hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF31	.	.	ENSP00000261534	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000261534	Transcript	.	.	ENSG00000009830	19743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	POMT2_HUMAN	POMT2	HGNC	G3V4X9_HUMAN	.	UPI0000070587	SNV	POMT2,missense_variant,p.Gly20Trp,ENST00000556171,;POMT2,missense_variant,p.Gly552Trp,ENST00000261534,;POMT2,upstream_gene_variant,,ENST00000556394,;POMT2,upstream_gene_variant,,ENST00000602717,;POMT2,downstream_gene_variant,,ENST00000554884,;POMT2,splice_region_variant,,ENST00000555134,;POMT2,splice_region_variant,,ENST00000452340,;POMT2,splice_region_variant,,ENST00000554564,;POMT2,splice_region_variant,,ENST00000554767,;POMT2,downstream_gene_variant,,ENST00000553880,;POMT2,upstream_gene_variant,,ENST00000556446,;POMT2,upstream_gene_variant,,ENST00000555710,;	1857	239	152	SUCCESS
POMT2	29954	.	GRCh37	14	77746807	77746807	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	75	234	1	ENST00000261534.4:c.1654-1G>T		p.X552_splice	ENST00000261534	NM_013382.5	552		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9857.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCTGCAT	NONE	.	.	.	.	.	ENSP00000261534	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261534	Transcript	.	.	ENSG00000009830	19743	.	.	HIGH	15/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POMT2_HUMAN	POMT2	HGNC	G3V4X9_HUMAN	.	UPI0000070587	SNV	POMT2,splice_acceptor_variant,,ENST00000556171,;POMT2,splice_acceptor_variant,,ENST00000261534,;POMT2,upstream_gene_variant,,ENST00000556394,;POMT2,upstream_gene_variant,,ENST00000602717,;POMT2,downstream_gene_variant,,ENST00000554884,;POMT2,splice_acceptor_variant,,ENST00000555134,;POMT2,splice_acceptor_variant,,ENST00000452340,;POMT2,splice_acceptor_variant,,ENST00000554564,;POMT2,splice_acceptor_variant,,ENST00000554767,;POMT2,downstream_gene_variant,,ENST00000553880,;POMT2,upstream_gene_variant,,ENST00000556446,;POMT2,upstream_gene_variant,,ENST00000555710,;	.	236	148	SUCCESS
CCDC88C	440193	.	GRCh37	14	91739338	91739338	+	synonymous_variant	Silent	SNP	G	G	T	rs756166689	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	71	1	ENST00000389857.6:c.5718C>A	p.Pro1906=	p.P1906=	ENST00000389857	NM_001080414.3	1906	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45151.1	5718	MUTECT|MUSE	.	ATGGCGGGGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31	.	.	ENSP00000374507	.	30/30	.	.	.	.	.	.	.	.	rs756166689	30/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,synonymous_variant,p.%3D,ENST00000389857,;CCDC88C,synonymous_variant,p.%3D,ENST00000331194,;CCDC88C,3_prime_UTR_variant,,ENST00000556726,;CCDC88C,downstream_gene_variant,,ENST00000334448,;	5805	72	28	SUCCESS
CGNL1	84952	.	GRCh37	15	57754012	57754012	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	123	0	ENST00000281282.5:c.2325T>G	p.Asp775Glu	p.D775E	ENST00000281282	NM_032866.4	775	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS10161.1	2325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGATCAGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF357,hmmpanther:PTHR13140	.	.	ENSP00000281282	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000281282	Transcript	1	.	ENSG00000128849	25931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CGNL1_HUMAN	CGNL1	HGNC	.	.	UPI000019B4EF	SNV	CGNL1,missense_variant,p.Asp775Glu,ENST00000281282,;	2403	123	82	SUCCESS
LIPC	3990	.	GRCh37	15	58840664	58840664	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	58	162	0	ENST00000299022.5:c.944G>A	p.Ser315Asn	p.S315N	ENST00000299022	NM_000236.2	315	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS10166.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGCTGCA	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF2,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821	.	.	ENSP00000348425	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000356113	Transcript	1	.	ENSG00000166035	6619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.15)	.	LIPC_HUMAN	LIPC	HGNC	.	.	UPI000013E54D	SNV	LIPC,missense_variant,p.Ser315Asn,ENST00000299022,;LIPC,missense_variant,p.Ser315Asn,ENST00000414170,;LIPC,missense_variant,p.Ser315Asn,ENST00000356113,;LIPC,missense_variant,p.Ser254Asn,ENST00000433326,;LIPC,non_coding_transcript_exon_variant,,ENST00000560664,;LIPC,non_coding_transcript_exon_variant,,ENST00000559845,;	1559	162	122	SUCCESS
ISLR	3671	.	GRCh37	15	74468160	74468160	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	64	0	ENST00000249842.3:c.961G>A	p.Glu321Lys	p.E321K	ENST00000249842	NM_005545.3	321	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS10260.1	961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAGGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000249842	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249842	Transcript	.	.	ENSG00000129009	6133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	deleterious(0)	.	ISLR_HUMAN	ISLR	HGNC	H0YN67_HUMAN,H0YL90_HUMAN	.	UPI0000049E09	SNV	ISLR,missense_variant,p.Glu321Lys,ENST00000249842,;ISLR,missense_variant,p.Glu321Lys,ENST00000395118,;STRA6,downstream_gene_variant,,ENST00000574278,;STRA6,downstream_gene_variant,,ENST00000323940,;ISLR,downstream_gene_variant,,ENST00000560862,;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000559510,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,;STRA6,downstream_gene_variant,,ENST00000563965,;STRA6,downstream_gene_variant,,ENST00000423167,;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000395105,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	1318	64	34	SUCCESS
SV2B	9899	.	GRCh37	15	91769904	91769904	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	73	0	ENST00000330276.4:c.411G>A	p.Glu137=	p.E137=	ENST00000330276		137	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS10370.1	411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAAGGA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF1,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR01299,Superfamily_domains:SSF103473	.	.	ENSP00000377779	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000394232	Transcript	.	.	ENSG00000185518	16874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SV2B_HUMAN	SV2B	HGNC	.	.	UPI000006FCF1	SNV	SV2B,synonymous_variant,p.%3D,ENST00000330276,;SV2B,synonymous_variant,p.%3D,ENST00000394232,;SV2B,intron_variant,,ENST00000545111,;SV2B,intron_variant,,ENST00000557291,;SV2B,synonymous_variant,p.%3D,ENST00000557410,;	881	73	77	SUCCESS
SMG1	23049	.	GRCh37	16	18846414	18846414	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	102	220	0	ENST00000446231.2:c.8130G>A	p.Leu2710=	p.L2710=	ENST00000446231		2710	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45430.1	8130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCAGGGT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	.	.	ENSP00000402515	.	49/63	.	.	.	.	.	.	.	.	.	49/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,synonymous_variant,p.%3D,ENST00000389467,;SMG1,synonymous_variant,p.%3D,ENST00000565324,;SMG1,synonymous_variant,p.%3D,ENST00000446231,;SMG1,downstream_gene_variant,,ENST00000563448,;	8543	220	180	SUCCESS
ERN2	10595	.	GRCh37	16	23707249	23707249	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	90	0	ENST00000256797.4:c.1720C>T	p.Leu574=	p.L574=	ENST00000256797	NM_033266.3	574	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32407.1	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCACGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000256797	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,synonymous_variant,p.%3D,ENST00000457008,;ERN2,synonymous_variant,p.%3D,ENST00000256797,;ERN2,upstream_gene_variant,,ENST00000562458,;ERN2,3_prime_UTR_variant,,ENST00000562562,;	1889	90	67	SUCCESS
AXIN1	8312	.	GRCh37	16	364562	364563	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	118	0	ENST00000262320.3:c.999_1000del	p.Ser334ProfsTer16	p.S334Pfs*16	ENST00000262320	NM_003502.3	333	ctGTcc/ctcc	0	.	.	.	.	.	-	LS/LX	protein_coding	YES	CCDS10405.1	999-1000	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGGGACAGGGT	BUFFER|p.D331fs*83|c.991_991delG|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	deletion	AXIN1,frameshift_variant,p.Ser334ProfsTer16,ENST00000262320,;AXIN1,frameshift_variant,p.Ser334ProfsTer16,ENST00000354866,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1371-1372	118	49	SUCCESS
AXIN1	8312	.	GRCh37	16	396448	396448	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	168	0	ENST00000262320.3:c.578T>A	p.Met193Lys	p.M193K	ENST00000262320	NM_003502.3	193	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS10405.1	578	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCATAGTG	BUFFER|p.Q190*|c.568C>T|4	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,missense_variant,p.Met193Lys,ENST00000262320,;AXIN1,missense_variant,p.Met193Lys,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;	950	168	101	SUCCESS
CMTM4	146223	.	GRCh37	16	66651253	66651253	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs767891322	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	89	377	0	ENST00000330687.4:c.632A>T	p.Tyr211Phe	p.Y211F	ENST00000330687	NM_181521.2	211	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10817.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGTAGGAA	NONE	.	.	.	.	.	ENSP00000333833	.	5/5	.	.	.	.	.	.	.	.	rs767891322	5/5	PASS	ENST00000330687	Transcript	.	.	ENSG00000183723	19175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.49)	.	CKLF4_HUMAN	CMTM4	HGNC	J3QRP2_HUMAN	.	UPI00000740BD	SNV	CMTM4,missense_variant,p.Tyr211Phe,ENST00000330687,;CMTM4,missense_variant,p.Tyr117Phe,ENST00000561680,;CMTM4,downstream_gene_variant,,ENST00000563952,;CMTM3,downstream_gene_variant,,ENST00000567572,;CMTM3,downstream_gene_variant,,ENST00000566121,;CMTM3,downstream_gene_variant,,ENST00000460097,;CMTM3,downstream_gene_variant,,ENST00000361909,;CMTM4,downstream_gene_variant,,ENST00000394106,;CMTM3,downstream_gene_variant,,ENST00000564060,;CMTM3,downstream_gene_variant,,ENST00000424011,;CMTM3,downstream_gene_variant,,ENST00000360086,;CMTM3,downstream_gene_variant,,ENST00000568477,;CMTM3,downstream_gene_variant,,ENST00000562707,;CMTM3,downstream_gene_variant,,ENST00000565922,;CMTM4,non_coding_transcript_exon_variant,,ENST00000581487,;CMTM3,downstream_gene_variant,,ENST00000564247,;CMTM3,downstream_gene_variant,,ENST00000566756,;	814	378	263	SUCCESS
TANGO6	79613	.	GRCh37	16	68953121	68953121	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	202	0	ENST00000261778.1:c.2126A>T	p.Gln709Leu	p.Q709L	ENST00000261778	NM_024562.1	709	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45516.1	2126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCAGGTGA	NONE	.	.	hmmpanther:PTHR20959:SF1,hmmpanther:PTHR20959,Superfamily_domains:SSF48371	.	.	ENSP00000261778	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000261778	Transcript	.	.	ENSG00000103047	25749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	deleterious(0)	.	TNG6_HUMAN	TANGO6	HGNC	B3KTB6_HUMAN	.	UPI00001FF4A8	SNV	TANGO6,missense_variant,p.Gln709Leu,ENST00000261778,;TANGO6,splice_region_variant,,ENST00000561856,;	2138	202	99	SUCCESS
GSDMB	55876	.	GRCh37	17	38068744	38068746	+	inframe_deletion	In_Frame_Del	DEL	TTT	TTT	-	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	TTT	TTT	.	.	.	.	.	.	.	.	.	.	.	.	.	80	102	205	0	ENST00000418519.1:c.240_242del	p.Lys81del	p.K81del	ENST00000418519	NM_001165958.1	80	caAAAg/cag	0	.	.	.	.	.	-	QK/Q	protein_coding	YES	CCDS54120.1	240-242	VARSCANI*|PINDEL	.	TCAGCCTTTTGACC	NONE	.	.	hmmpanther:PTHR16399:SF2,hmmpanther:PTHR16399,Pfam_domain:PF04598	.	.	ENSP00000415049	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000418519	Transcript	.	.	ENSG00000073605	23690	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GSDMB_HUMAN	GSDMB	HGNC	.	.	UPI0000200C24	deletion	GSDMB,inframe_deletion,p.Lys81del,ENST00000520542,;GSDMB,inframe_deletion,p.Lys81del,ENST00000394179,;GSDMB,inframe_deletion,p.Lys81del,ENST00000360317,;GSDMB,inframe_deletion,p.Lys81del,ENST00000394175,;GSDMB,inframe_deletion,p.Lys81del,ENST00000418519,;GSDMB,inframe_deletion,p.Lys81del,ENST00000309481,;GSDMB,inframe_deletion,p.Lys81del,ENST00000523371,;GSDMB,inframe_deletion,p.Lys81del,ENST00000522564,;GSDMB,inframe_deletion,p.Lys81del,ENST00000524039,;GSDMB,non_coding_transcript_exon_variant,,ENST00000477054,;GSDMB,non_coding_transcript_exon_variant,,ENST00000464556,;GSDMB,upstream_gene_variant,,ENST00000479136,;GSDMB,upstream_gene_variant,,ENST00000468820,;GSDMB,upstream_gene_variant,,ENST00000519429,;	371-373	205	182	SUCCESS
GOSR2	9570	.	GRCh37	17	45006918	45006918	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs981608270	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	60	0	ENST00000393456.2:c.62G>A	p.Arg21His	p.R21H	ENST00000393456	NM_004287.3	21	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS11507.1	62	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGCCTGG	NONE	.	.	hmmpanther:PTHR21230:SF1,hmmpanther:PTHR21230,Gene3D:1.20.58.70,PIRSF_domain:PIRSF028865,Superfamily_domains:SSF47661	.	.	ENSP00000225567	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000225567	Transcript	.	.	ENSG00000108433	4431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.05)	.	GOSR2_HUMAN	GOSR2	HGNC	.	.	UPI000002AACF	SNV	GOSR2,missense_variant,p.Arg21His,ENST00000575949,;GOSR2,missense_variant,p.Arg21His,ENST00000415811,;GOSR2,missense_variant,p.Arg21His,ENST00000439730,;GOSR2,missense_variant,p.Arg21His,ENST00000393456,;GOSR2,missense_variant,p.Arg21His,ENST00000225567,;GOSR2,missense_variant,p.Arg3His,ENST00000572403,;GOSR2,missense_variant,p.Arg21His,ENST00000576910,;GOSR2,missense_variant,p.Arg20His,ENST00000570879,;RP11-156P1.2,missense_variant,p.Arg21His,ENST00000571841,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571658,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571048,;	93	60	45	SUCCESS
LUC7L3	51747	.	GRCh37	17	48823914	48823914	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	167	312	0	ENST00000240304.1:c.989G>A	p.Arg330Gln	p.R330Q	ENST00000240304	NM_006107.3	330	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11573.1	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGACGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12375	.	.	ENSP00000425092	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000505658	Transcript	.	.	ENSG00000108848	24309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	LC7L3_HUMAN	LUC7L3	HGNC	U3KQT3_HUMAN,D6RHH0_HUMAN	.	UPI00000736F2	SNV	LUC7L3,missense_variant,p.Arg330Gln,ENST00000240304,;LUC7L3,missense_variant,p.Arg330Gln,ENST00000393227,;LUC7L3,missense_variant,p.Arg330Gln,ENST00000505658,;LUC7L3,missense_variant,p.Arg254Gln,ENST00000544170,;LUC7L3,downstream_gene_variant,,ENST00000505619,;LUC7L3,upstream_gene_variant,,ENST00000503728,;LUC7L3,upstream_gene_variant,,ENST00000511974,;LUC7L3,upstream_gene_variant,,ENST00000513969,;LUC7L3,downstream_gene_variant,,ENST00000513025,;LUC7L3,upstream_gene_variant,,ENST00000503798,;LUC7L3,upstream_gene_variant,,ENST00000512549,;LUC7L3,missense_variant,p.Arg37Gln,ENST00000509487,;LUC7L3,missense_variant,p.Arg150Gln,ENST00000504065,;LUC7L3,3_prime_UTR_variant,,ENST00000508482,;LUC7L3,downstream_gene_variant,,ENST00000507200,;LUC7L3,downstream_gene_variant,,ENST00000504563,;LUC7L3,downstream_gene_variant,,ENST00000511068,;LUC7L3,downstream_gene_variant,,ENST00000508045,;LUC7L3,downstream_gene_variant,,ENST00000507503,;	1178	313	302	SUCCESS
TBC1D3P2	440452	.	GRCh37	17	60348756	60348756	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs548616611	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	65	171	0	ENST00000339120.4:n.461A>G		p.*154*	ENST00000339120				0	.	C:0	.	C:0	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGTTCA	NONE	by1000G	.	.	C:0.001	.	.	C:0	6/14	.	.	.	.	.	.	.	.	rs548616611	6/14	PASS	ENST00000339120	Transcript	.	C:0.0002	ENSG00000188755	27783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	TBC1D3P2	HGNC	.	.	.	SNV	TBC1D3P2,non_coding_transcript_exon_variant,,ENST00000339120,;TBC1D3P2,non_coding_transcript_exon_variant,,ENST00000581291,;RP11-51L5.7,downstream_gene_variant,,ENST00000602932,;TBC1D3P2,non_coding_transcript_exon_variant,,ENST00000577902,;	461	171	126	SUCCESS
SDK2	54549	.	GRCh37	17	71335078	71335078	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	254	524	0	ENST00000392650.3:c.6167G>A	p.Gly2056Glu	p.G2056E	ENST00000392650	NM_001144952.1	2056	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS45769.1	6167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCCCTGG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37	.	.	ENSP00000376421	.	45/45	.	.	.	.	.	.	.	.	.	45/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0.01)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Gly1213Glu,ENST00000424778,;SDK2,missense_variant,p.Gly2037Glu,ENST00000388726,;SDK2,missense_variant,p.Gly2056Glu,ENST00000392650,;SDK2,splice_region_variant,,ENST00000410094,;	6168	524	479	SUCCESS
RP11-737O24.3	0	.	GRCh37	18	2946541	2946541	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs557256576	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	101	1	ENST00000581139.1:n.348A>G		p.*116*	ENST00000581139				0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS11829.1	.	MUTECT|MUSE|VARSCANS	.	TTTTTTCCCAC	NONE	byCluster|by1000G	.	.	C:0	.	ENSP00000261596	C:0	.	.	.	.	.	.	.	.	.	rs557256576	.	PASS	ENST00000261596	Transcript	.	C:0.0002	ENSG00000101577	14450	.	.	MODIFIER	4/19	PRIMARY	.	.	.	.	3	.	.	.	.	C:0.001	.	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,intron_variant,,ENST00000584294,;LPIN2,intron_variant,,ENST00000261596,;RP11-737O24.2,upstream_gene_variant,,ENST00000584431,;RP11-737O24.2,upstream_gene_variant,,ENST00000581488,;RP11-737O24.3,non_coding_transcript_exon_variant,,ENST00000581139,;RP11-737O24.3,upstream_gene_variant,,ENST00000582850,;	.	102	47	SUCCESS
MEP1B	4225	.	GRCh37	18	29788190	29788190	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	26	144	0	ENST00000269202.6:c.875C>G	p.Pro292Arg	p.P292R	ENST00000269202	NM_005925.2	292	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS45846.1	875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCCAGGG	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR10127:SF312,hmmpanther:PTHR10127,Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000269202	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	tolerated(0.07)	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	SNV	MEP1B,missense_variant,p.Pro292Arg,ENST00000269202,;MEP1B,missense_variant,p.Pro292Arg,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;MEP1B,downstream_gene_variant,,ENST00000581184,;	922	144	93	SUCCESS
MAP1S	55201	.	GRCh37	19	17837556	17837556	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	42	0	ENST00000324096.4:c.1363C>T	p.Arg455Ter	p.R455*	ENST00000324096	NM_018174.4	455	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS32954.1	1363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCGAGAG	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	SNV	MAP1S,stop_gained,p.Arg429Ter,ENST00000544059,;MAP1S,stop_gained,p.Arg455Ter,ENST00000324096,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;	1514	42	42	SUCCESS
ZNF208	7757	.	GRCh37	19	22156027	22156027	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	58	0	ENST00000397126.4:c.1809T>C	p.His603=	p.H603=	ENST00000397126	NM_007153.3	603	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS54240.1	1809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTATGAAT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,synonymous_variant,p.%3D,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	1958	58	60	SUCCESS
ZNF302	55900	.	GRCh37	19	35173713	35173713	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	74	225	0	ENST00000505242.1:c.41C>G	p.Ser14Cys	p.S14C	ENST00000505242		14	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS46042.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCTCATG	BUFFER|p.H15Q|c.45T>A|5	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000421028	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000505242	Transcript	.	.	ENSG00000089335	13848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	deleterious(0)	.	ZN302_HUMAN	ZNF302	HGNC	Q7Z4B9_HUMAN,D6RAM0_HUMAN	.	UPI0000001668	SNV	ZNF302,missense_variant,p.Ser14Cys,ENST00000506901,;ZNF302,missense_variant,p.Ser14Cys,ENST00000505163,;ZNF302,missense_variant,p.Ser14Cys,ENST00000457781,;ZNF302,missense_variant,p.Ser14Cys,ENST00000507959,;ZNF302,missense_variant,p.Ser14Cys,ENST00000423823,;ZNF302,missense_variant,p.Ser58Cys,ENST00000446502,;ZNF302,missense_variant,p.Ser14Cys,ENST00000505242,;ZNF302,missense_variant,p.Ser14Cys,ENST00000502743,;ZNF302,missense_variant,p.Ser14Cys,ENST00000505365,;ZNF302,intron_variant,,ENST00000509528,;ZNF302,non_coding_transcript_exon_variant,,ENST00000509196,;ZNF302,non_coding_transcript_exon_variant,,ENST00000512455,;ZNF302,non_coding_transcript_exon_variant,,ENST00000510002,;	535	225	207	SUCCESS
ZBTB32	27033	.	GRCh37	19	36206306	36206306	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746252543	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	73	0	ENST00000262630.3:c.778C>A	p.Pro260Thr	p.P260T	ENST00000262630	NM_014383.1	260	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS12471.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCTGCC	NONE	.	.	hmmpanther:PTHR11389:SF456,hmmpanther:PTHR11389	.	.	ENSP00000376035	.	3/7	.	.	.	.	.	.	.	.	rs746252543	3/7	PASS	ENST00000392197	Transcript	.	.	ENSG00000011590	16763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious_low_confidence(0)	.	ZBT32_HUMAN	ZBTB32	HGNC	K7EMJ1_HUMAN	.	UPI0000038C8C	SNV	ZBTB32,missense_variant,p.Pro260Thr,ENST00000392197,;ZBTB32,missense_variant,p.Pro260Thr,ENST00000262630,;ZBTB32,intron_variant,,ENST00000426659,;KMT2B,upstream_gene_variant,,ENST00000222270,;KMT2B,upstream_gene_variant,,ENST00000341701,;KMT2B,upstream_gene_variant,,ENST00000420124,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000442282,;KMT2B,upstream_gene_variant,,ENST00000607650,;ZBTB32,downstream_gene_variant,,ENST00000451726,;ZBTB32,missense_variant,p.Pro260Thr,ENST00000481182,;	1096	73	31	SUCCESS
ZNF284	342909	.	GRCh37	19	44590982	44590982	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1189794700	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	46	155	0	ENST00000421176.3:c.1351G>A	p.Gly451Arg	p.G451R	ENST00000421176	NM_001037813.2	451	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46099.1	1351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGGGAGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000411032	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000421176	Transcript	.	.	ENSG00000186026	13078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.03)	.	ZN284_HUMAN	ZNF284	HGNC	.	.	UPI00005788EA	SNV	ZNF284,missense_variant,p.Gly451Arg,ENST00000421176,;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;	1567	155	141	SUCCESS
TNNI3	7137	.	GRCh37	19	55663250	55663250	+	synonymous_variant	Silent	SNP	G	G	A	rs200085986	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	9	203	0	ENST00000344887.5:c.585C>T	p.Ile195=	p.I195=	ENST00000344887	NM_000363.4	195	atC/atT	0	A:0.0003	.	.	.	.	A	I	protein_coding	YES	CCDS42628.1	585	MUTECT|MUSE	.	GCATCGATGTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13738,hmmpanther:PTHR13738:SF4	.	A:0	ENSP00000341838	.	8/8	.	.	.	.	.	.	.	.	rs200085986,CM034577	8/8	PASS	ENST00000344887	Transcript	1	.	ENSG00000129991	11947	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	.	TNNI3_HUMAN	TNNI3	HGNC	Q6FGX2_HUMAN,A9UD06_HUMAN,A8CN18_HUMAN,A8CLQ8_HUMAN	.	UPI0000155A10	SNV	TNNI3,synonymous_variant,p.%3D,ENST00000588882,;TNNI3,synonymous_variant,p.%3D,ENST00000344887,;TNNT1,upstream_gene_variant,,ENST00000536926,;TNNT1,upstream_gene_variant,,ENST00000589226,;TNNT1,upstream_gene_variant,,ENST00000585321,;TNNT1,upstream_gene_variant,,ENST00000588981,;TNNT1,upstream_gene_variant,,ENST00000588426,;TNNT1,upstream_gene_variant,,ENST00000356783,;TNNT1,upstream_gene_variant,,ENST00000593046,;TNNI3,downstream_gene_variant,,ENST00000586858,;TNNT1,upstream_gene_variant,,ENST00000588147,;TNNT1,upstream_gene_variant,,ENST00000291901,;TNNT1,upstream_gene_variant,,ENST00000587758,;TNNT1,upstream_gene_variant,,ENST00000587465,;TNNI3,downstream_gene_variant,,ENST00000590463,;TNNI3,downstream_gene_variant,,ENST00000586669,;TNNT1,upstream_gene_variant,,ENST00000592920,;TNNI3,non_coding_transcript_exon_variant,,ENST00000585806,;TNNI3,non_coding_transcript_exon_variant,,ENST00000589864,;TNNI3,downstream_gene_variant,,ENST00000586446,;TNNT1,upstream_gene_variant,,ENST00000586282,;CTD-2587H24.4,downstream_gene_variant,,ENST00000587871,;TNNI3,downstream_gene_variant,,ENST00000587176,;	728	203	188	SUCCESS
ZNF324	25799	.	GRCh37	19	58982592	58982592	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs777767020	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	47	143	0	ENST00000196482.3:c.733G>T	p.Glu245Ter	p.E245*	ENST00000196482	NM_014347.2	245	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12981.1	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGAGCTG	NONE	byFrequency	.	hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32	.	.	ENSP00000444812	.	4/4	.	.	.	.	.	.	.	.	rs777767020,COSM286824	4/4	PASS	ENST00000536459	Transcript	.	.	ENSG00000083812	14096	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	Z324A_HUMAN	ZNF324	HGNC	F5H1K2_HUMAN	.	UPI000013C359	SNV	ZNF324,stop_gained,p.Glu22Ter,ENST00000535298,;ZNF324,stop_gained,p.Glu245Ter,ENST00000196482,;ZNF324,stop_gained,p.Glu104Ter,ENST00000593925,;ZNF324,stop_gained,p.Glu245Ter,ENST00000536459,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000600013,;ZNF446,upstream_gene_variant,,ENST00000594369,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000594468,;	1442	143	138	SUCCESS
KIAA1324	0	.	GRCh37	1	109715162	109715162	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	54	211	0	ENST00000369939.3:c.668C>A	p.Thr223Asn	p.T223N	ENST00000369939	NM_020775.4	223	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS794.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACCACAG	NONE	.	.	hmmpanther:PTHR22727,hmmpanther:PTHR22727:SF13	.	.	ENSP00000358955	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000369939	Transcript	.	.	ENSG00000116299	29618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0.04)	.	K1324_HUMAN	KIAA1324	HGNC	E9PS21_HUMAN,E9PMS2_HUMAN,E9PLY8_HUMAN,E9PLQ2_HUMAN	.	UPI00002051E0	SNV	KIAA1324,missense_variant,p.Thr223Asn,ENST00000529753,;KIAA1324,missense_variant,p.Thr223Asn,ENST00000369939,;KIAA1324,missense_variant,p.Thr223Asn,ENST00000457623,;KIAA1324,downstream_gene_variant,,ENST00000531664,;KIAA1324,3_prime_UTR_variant,,ENST00000527996,;KIAA1324,non_coding_transcript_exon_variant,,ENST00000490758,;	851	211	134	SUCCESS
EPS8L3	79574	.	GRCh37	1	110294654	110294654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	68	225	0	ENST00000361965.4:c.1397C>T	p.Pro466Leu	p.P466L	ENST00000361965		466	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS815.1	1400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTGGGTTC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000358820	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000369805	Transcript	.	.	ENSG00000198758	21297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	deleterious(0.01)	.	ES8L3_HUMAN	EPS8L3	HGNC	.	.	UPI00001613C9	SNV	EPS8L3,missense_variant,p.Pro467Leu,ENST00000369805,;EPS8L3,missense_variant,p.Pro466Leu,ENST00000361965,;EPS8L3,missense_variant,p.Pro436Leu,ENST00000361852,;RP4-735C1.4,intron_variant,,ENST00000431955,;EPS8L3,non_coding_transcript_exon_variant,,ENST00000475725,;EPS8L3,non_coding_transcript_exon_variant,,ENST00000482453,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,upstream_gene_variant,,ENST00000498743,;EPS8L3,upstream_gene_variant,,ENST00000489465,;	1630	225	173	SUCCESS
HRNR	388697	.	GRCh37	1	152191383	152191383	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs148651006	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	149	0	ENST00000368801.2:c.2722C>T	p.Arg908Ter	p.R908*	ENST00000368801	NM_001009931.2	908	Cga/Tga	0	T:0.0018	T:0.0015	.	T:0	.	A	R/*	protein_coding	YES	CCDS30859.1	2722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCGGCCAT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	T:0	T:0	ENSP00000357791	T:0	3/3	.	.	.	.	.	.	.	.	rs148651006	3/3	PASS	ENST00000368801	Transcript	.	T:0.0004	ENSG00000197915	20846	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,stop_gained,p.Arg908Ter,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	2798	149	107	SUCCESS
TRIM46	80128	.	GRCh37	1	155154372	155154372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	18	138	1	ENST00000334634.4:c.1633C>T	p.Arg545Trp	p.R545W	ENST00000334634	NM_001282378.1	545	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1097.1	1633	RADIA|MUTECT|VARSCANS	.	GAGAGCGGCTG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF27,hmmpanther:PTHR24103,Superfamily_domains:SSF49899	.	.	ENSP00000334657	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000334634	Transcript	.	.	ENSG00000163462	19019	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRI46_HUMAN	TRIM46	HGNC	F5GYK0_HUMAN	.	UPI000022B316	SNV	TRIM46,missense_variant,p.Arg522Trp,ENST00000368382,;TRIM46,missense_variant,p.Arg545Trp,ENST00000334634,;TRIM46,missense_variant,p.Arg545Trp,ENST00000368383,;TRIM46,missense_variant,p.Arg419Trp,ENST00000545012,;TRIM46,3_prime_UTR_variant,,ENST00000392451,;TRIM46,3_prime_UTR_variant,,ENST00000543729,;RP11-201K10.3,intron_variant,,ENST00000473363,;MUC1,downstream_gene_variant,,ENST00000368393,;MUC1,downstream_gene_variant,,ENST00000337604,;MUC1,downstream_gene_variant,,ENST00000457295,;MUC1,downstream_gene_variant,,ENST00000368392,;MUC1,downstream_gene_variant,,ENST00000338684,;MUC1,downstream_gene_variant,,ENST00000368395,;MUC1,downstream_gene_variant,,ENST00000438413,;MUC1,downstream_gene_variant,,ENST00000368389,;MUC1,downstream_gene_variant,,ENST00000368398,;MUC1,downstream_gene_variant,,ENST00000342482,;TRIM46,downstream_gene_variant,,ENST00000368385,;MUC1,downstream_gene_variant,,ENST00000343256,;MUC1,downstream_gene_variant,,ENST00000368390,;MUC1,downstream_gene_variant,,ENST00000368396,;TRIM46,non_coding_transcript_exon_variant,,ENST00000474430,;TRIM46,non_coding_transcript_exon_variant,,ENST00000468878,;MUC1,downstream_gene_variant,,ENST00000498431,;MUC1,downstream_gene_variant,,ENST00000468978,;MUC1,downstream_gene_variant,,ENST00000462215,;MUC1,downstream_gene_variant,,ENST00000471283,;MUC1,downstream_gene_variant,,ENST00000462317,;MUC1,downstream_gene_variant,,ENST00000467134,;TRIM46,downstream_gene_variant,,ENST00000464760,;MUC1,downstream_gene_variant,,ENST00000485118,;	1633	139	104	SUCCESS
F5	2153	.	GRCh37	1	169512354	169512354	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	.	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	94	0	ENST00000367797.3:c.1976-2A>G		p.X659_splice	ENST00000367797	NM_000130.4	659		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1281.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCTACAGA	NONE	.	.	.	.	.	ENSP00000356771	.	.	.	.	.	.	.	.	.	.	COSM2150718	.	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	HIGH	12/24	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,splice_acceptor_variant,,ENST00000367796,;F5,splice_acceptor_variant,,ENST00000367797,;F5,downstream_gene_variant,,ENST00000546081,;	.	94	66	SUCCESS
IGFN1	91156	.	GRCh37	1	201186487	201186487	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	20	204	0	ENST00000295591.8:c.1148C>T	p.Ala383Val	p.A383V	ENST00000295591		383	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS53455.1	9668	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCACCTC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145,PROSITE_profiles:PS50853	.	.	ENSP00000334714	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,missense_variant,p.Ala383Val,ENST00000295591,;IGFN1,missense_variant,p.Ala641Val,ENST00000412892,;IGFN1,missense_variant,p.Ala3223Val,ENST00000335211,;IGFN1,downstream_gene_variant,,ENST00000451870,;RP11-567E21.3,downstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	9798	204	153	SUCCESS
CHIT1	1118	.	GRCh37	1	203186123	203186123	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202003206	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	39	0	ENST00000367229.1:c.1295G>A	p.Arg432Gln	p.R432Q	ENST00000367229	NM_003465.2	432	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS1436.1	1295	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCGAGGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57625,SMART_domains:SM00494,Gene3D:1dqcA00,Pfam_domain:PF01607,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF108,PROSITE_profiles:PS50940	T:0.001	.	ENSP00000356198	T:0	11/11	.	.	.	.	.	.	.	.	rs202003206,COSM166491	11/11	PASS	ENST00000367229	Transcript	.	T:0.0002	ENSG00000133063	1936	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.002)	T:0	tolerated(0.6)	0,1	CHIT1_HUMAN	CHIT1	HGNC	.	.	UPI00000399C1	SNV	CHIT1,missense_variant,p.Arg423Gln,ENST00000535569,;CHIT1,missense_variant,p.Arg413Gln,ENST00000255427,;CHIT1,missense_variant,p.Arg432Gln,ENST00000367229,;CHIT1,intron_variant,,ENST00000479483,;CHIT1,intron_variant,,ENST00000484834,;CHIT1,downstream_gene_variant,,ENST00000506427,;CHIT1,3_prime_UTR_variant,,ENST00000503786,;CHIT1,3_prime_UTR_variant,,ENST00000491855,;	1330	39	26	SUCCESS
INTS7	25896	.	GRCh37	1	212139822	212139822	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	104	0	ENST00000366994.3:c.2133A>T	p.Leu711Phe	p.L711F	ENST00000366994	NM_001199811.1	711	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1501.1	2133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTAAACA	NONE	.	.	hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2	.	.	ENSP00000355961	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000366994	Transcript	.	.	ENSG00000143493	24484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	tolerated(0.18)	.	INT7_HUMAN	INTS7	HGNC	.	.	UPI000006FE2E	SNV	INTS7,missense_variant,p.Leu711Phe,ENST00000366994,;INTS7,missense_variant,p.Leu711Phe,ENST00000366993,;INTS7,missense_variant,p.Leu662Phe,ENST00000440600,;INTS7,missense_variant,p.Leu711Phe,ENST00000366992,;INTS7,non_coding_transcript_exon_variant,,ENST00000462910,;INTS7,non_coding_transcript_exon_variant,,ENST00000475798,;INTS7,non_coding_transcript_exon_variant,,ENST00000469606,;INTS7,non_coding_transcript_exon_variant,,ENST00000461212,;	2238	104	82	SUCCESS
FMN2	56776	.	GRCh37	1	240370660	240370660	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	48	134	0	ENST00000319653.9:c.2548A>G	p.Lys850Glu	p.K850E	ENST00000319653	NM_020066.4	850	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS31069.2	2548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTAAAAAC	NONE	.	.	hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,SMART_domains:SM00498	.	.	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	COSM1718897	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	1	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Lys850Glu,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	2778	134	101	SUCCESS
GPATCH3	63906	.	GRCh37	1	27226824	27226824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	114	0	ENST00000361720.5:c.110G>T	p.Arg37Leu	p.R37L	ENST00000361720	NM_022078.2	37	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS290.1	110	MUSE|VARSCANS	.	CTTCTCGGAAC	NONE	.	.	hmmpanther:PTHR14390	.	.	ENSP00000354645	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000361720	Transcript	.	.	ENSG00000198746	25720	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.35)	.	GPTC3_HUMAN	GPATCH3	HGNC	Q5JYG5_HUMAN,B4E015_HUMAN	.	UPI000003E830	SNV	GPATCH3,missense_variant,p.Arg37Leu,ENST00000361720,;NUDC,5_prime_UTR_variant,,ENST00000435827,;	134	114	39	SUCCESS
CDCP2	200008	.	GRCh37	1	54618517	54618517	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	22	191	0	ENST00000371330.1:c.79G>A	p.Gly27Ser	p.G27S	ENST00000371330	NM_201546.3	27	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS588.2	79	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACCTTCCA	NONE	.	.	Gene3D:2.60.120.290	.	.	ENSP00000360381	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000371330	Transcript	.	.	ENSG00000157211	27297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0.01)	.	CDCP2_HUMAN	CDCP2	HGNC	.	.	UPI0000458963	SNV	CDCP2,missense_variant,p.Gly27Ser,ENST00000371330,;RP11-446E24.4,intron_variant,,ENST00000525949,;RP11-446E24.4,splice_region_variant,,ENST00000311841,;	927	191	109	SUCCESS
PCSK2	5126	.	GRCh37	20	17410143	17410143	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	68	0	ENST00000262545.2:c.684A>T	p.Gly228=	p.G228=	ENST00000262545	NM_002594.3	228	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13125.1	684	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTTGGAGTAGC	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	.	.	ENSP00000262545	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000262545	Transcript	.	.	ENSG00000125851	8744	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEC2_HUMAN	PCSK2	HGNC	Q9UM69_HUMAN	.	UPI0000000C6E	SNV	PCSK2,synonymous_variant,p.%3D,ENST00000262545,;PCSK2,synonymous_variant,p.%3D,ENST00000377899,;PCSK2,synonymous_variant,p.%3D,ENST00000536609,;	999	68	71	SUCCESS
TGM3	7053	.	GRCh37	20	2290970	2290970	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139117716	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	131	0	ENST00000381458.5:c.328C>T	p.Arg110Trp	p.R110W	ENST00000381458	NM_003245.3	110	Cgg/Tgg	0	T:0.0009	T:0.0008	.	T:0.0014	.	T	R/W	protein_coding	YES	CCDS33435.1	328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGACGGTAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF81296	T:0	T:0	ENSP00000370867	T:0	3/13	.	.	.	.	.	.	.	.	rs139117716,COSM4097102	3/13	PASS	ENST00000381458	Transcript	.	T:0.0004	ENSG00000125780	11779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.012)	T:0	tolerated(0.14)	0,1	TGM3_HUMAN	TGM3	HGNC	.	.	UPI0000136CCC	SNV	TGM3,missense_variant,p.Arg110Trp,ENST00000381458,;TGM3,upstream_gene_variant,,ENST00000463090,;	391	131	117	SUCCESS
GGTLC1	92086	.	GRCh37	20	23967085	23967085	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	49	0	ENST00000278765.4:c.164C>T	p.Thr55Ile	p.T55I	ENST00000278765	NM_178312.2	55	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS13163.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGTGCTG	NONE	.	.	hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686,PROSITE_patterns:PS00462,Pfam_domain:PF01019,Superfamily_domains:SSF56235,Prints_domain:PR01210	.	.	ENSP00000337587	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000335694	Transcript	.	.	ENSG00000149435	16437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	GGTL1_HUMAN	GGTLC1	HGNC	.	.	UPI0000073C4D	SNV	GGTLC1,missense_variant,p.Thr55Ile,ENST00000286890,;GGTLC1,missense_variant,p.Thr55Ile,ENST00000335694,;GGTLC1,missense_variant,p.Thr55Ile,ENST00000278765,;POM121L3P,upstream_gene_variant,,ENST00000419331,;	369	49	53	SUCCESS
PMEPA1	56937	.	GRCh37	20	56228121	56228121	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	79	0	ENST00000341744.3:c.286G>T	p.Glu96Ter	p.E96*	ENST00000341744	NM_020182.4	96	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS13463.1	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCCGAGG	NONE	.	.	hmmpanther:PTHR16514,hmmpanther:PTHR16514:SF5	.	.	ENSP00000345826	.	3/4	.	.	.	.	.	.	.	.	COSM1483787	3/4	PASS	ENST00000341744	Transcript	.	.	ENSG00000124225	14107	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PMEPA_HUMAN	PMEPA1	HGNC	.	.	UPI000004970A	SNV	PMEPA1,stop_gained,p.Glu46Ter,ENST00000265626,;PMEPA1,stop_gained,p.Glu96Ter,ENST00000341744,;PMEPA1,stop_gained,p.Glu46Ter,ENST00000395816,;PMEPA1,stop_gained,p.Glu61Ter,ENST00000347215,;PMEPA1,stop_gained,p.Glu46Ter,ENST00000395814,;PMEPA1,stop_gained,p.Glu153Ter,ENST00000395819,;PMEPA1,stop_gained,p.Glu68Ter,ENST00000414037,;	606	79	96	SUCCESS
IGHV1OR21-1	390530	.	GRCh37	21	10862766	10862766	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747102674	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	143	0	ENST00000559480.1:c.62T>C	p.Val21Ala	p.V21A	ENST00000559480		21	gTa/gCa	0	.	.	.	.	.	C	V/A	IG_V_gene	YES	.	62	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTACAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000453358	.	2/2	.	.	.	.	.	.	.	.	rs747102674,COSM3841619	2/2	PASS	ENST00000559480	Transcript	.	.	ENSG00000169861	38040	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.512)	.	deleterious(0.02)	0,1	IV1U1_HUMAN	IGHV1OR21-1	HGNC	.	.	UPI000041AB26	SNV	IGHV1OR21-1,missense_variant,p.Val21Ala,ENST00000559480,;IGHV1OR21-1,missense_variant,p.Val21Ala,ENST00000302092,;	62	143	108	SUCCESS
RIMBP3B	440804	.	GRCh37	22	21742770	21742770	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	714	174	998	0	ENST00000434111.1:c.4623C>T	p.Ala1541=	p.A1541=	ENST00000434111	NM_001128635.1	1541	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46668.1	4623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCACCT	NONE	.	.	hmmpanther:PTHR14234:SF21,hmmpanther:PTHR14234	.	.	ENSP00000407925	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434111	Transcript	.	.	ENSG00000196934	33891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIM3B_HUMAN	RIMBP3B	HGNC	.	.	UPI0000237732	SNV	RIMBP3B,synonymous_variant,p.%3D,ENST00000434111,;SCARNA18,downstream_gene_variant,,ENST00000516505,;SCARNA17,downstream_gene_variant,,ENST00000516211,;RN7SKP63,upstream_gene_variant,,ENST00000363187,;	5108	998	888	SUCCESS
FLJ27365	0	.	GRCh37	22	46505777	46505777	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs559576610	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	50	188	0	ENST00000360737.3:c.370G>T	p.Asp124Tyr	p.D124Y	ENST00000360737		124	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGATGCC	NONE	.	.	.	.	.	ENSP00000353966	.	5/5	.	.	.	.	.	.	.	.	rs559576610	5/5	PASS	ENST00000360737	Transcript	.	.	ENSG00000197182	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	FLJ27365	Uniprot_gn	Q6ZNQ0_HUMAN,B1AKH8_HUMAN	.	UPI00001C11DA	SNV	FLJ27365,missense_variant,p.Asp124Tyr,ENST00000360737,;FLJ27365,downstream_gene_variant,,ENST00000381051,;MIR4763,upstream_gene_variant,,ENST00000581461,;MIRLET7B,upstream_gene_variant,,ENST00000385140,;MIRLET7A3,upstream_gene_variant,,ENST00000362116,;FLJ27365,3_prime_UTR_variant,,ENST00000435439,;	529	188	127	SUCCESS
MOV10L1	54456	.	GRCh37	22	50585539	50585539	+	intron_variant	Intron	SNP	G	G	C	rs529314381	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	73	185	0	ENST00000262794.5:c.2627+1300G>C		p.*876*	ENST00000262794	NM_018995.2			0	.	A:0	.	A:0	.	C	.	protein_coding	YES	CCDS14084.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGGGCAC	NONE	by1000G	.	.	A:0.001	.	ENSP00000262794	A:0	.	.	.	.	.	.	.	.	.	rs529314381	.	PASS	ENST00000262794	Transcript	.	A:0.0002	ENSG00000073146	7201	.	.	MODIFIER	19/26	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	M10L1_HUMAN	MOV10L1	HGNC	.	.	UPI00000421FB	SNV	MOV10L1,5_prime_UTR_variant,,ENST00000395852,;MOV10L1,intron_variant,,ENST00000540615,;MOV10L1,intron_variant,,ENST00000395843,;MOV10L1,intron_variant,,ENST00000545383,;MOV10L1,intron_variant,,ENST00000262794,;MOV10L1,intron_variant,,ENST00000395858,;MOV10L1,upstream_gene_variant,,ENST00000354853,;MOV10L1,downstream_gene_variant,,ENST00000434497,;	.	185	178	SUCCESS
AMMECR1L	83607	.	GRCh37	2	128628438	128628438	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	60	138	0	ENST00000272647.5:c.583G>A	p.Val195Ile	p.V195I	ENST00000272647	NM_001199140.1	195	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS2152.1	583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACAGAGC	NONE	.	.	PROSITE_profiles:PS51112,hmmpanther:PTHR13016,hmmpanther:PTHR13016:SF1,Pfam_domain:PF01871,Gene3D:1vajA01,TIGRFAM_domain:TIGR00296,Superfamily_domains:SSF143447	.	.	ENSP00000272647	.	5/8	.	.	.	.	.	.	.	.	COSM569826	5/8	PASS	ENST00000272647	Transcript	.	.	ENSG00000144233	28658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.923)	.	tolerated(0.07)	1	AMERL_HUMAN	AMMECR1L	HGNC	.	.	UPI000013D96F	SNV	AMMECR1L,missense_variant,p.Val195Ile,ENST00000393001,;AMMECR1L,missense_variant,p.Val195Ile,ENST00000272647,;	844	138	110	SUCCESS
TMEM214	54867	.	GRCh37	2	27258486	27258486	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375315795	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	81	0	ENST00000238788.9:c.527G>A	p.Arg176Gln	p.R176Q	ENST00000238788	NM_017727.4	176	cGg/cAg	0	A:0.0003	.	.	.	.	A	R/Q	protein_coding	YES	CCDS42664.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGGGAGC	NONE	byCluster	.	hmmpanther:PTHR13448	.	A:0	ENSP00000238788	.	4/17	.	.	.	.	.	.	.	.	rs375315795	4/17	PASS	ENST00000238788	Transcript	.	.	ENSG00000119777	25983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	tolerated(0.15)	.	TM214_HUMAN	TMEM214	HGNC	B2RD07_HUMAN	.	UPI00003FF926	SNV	TMEM214,missense_variant,p.Arg176Gln,ENST00000238788,;TMEM214,intron_variant,,ENST00000404032,;TMEM214,upstream_gene_variant,,ENST00000425720,;TMEM214,upstream_gene_variant,,ENST00000444135,;TMEM214,missense_variant,p.Arg176Gln,ENST00000321326,;TMEM214,missense_variant,p.Arg14Gln,ENST00000435172,;TMEM214,non_coding_transcript_exon_variant,,ENST00000475258,;TMEM214,upstream_gene_variant,,ENST00000460904,;TMEM214,upstream_gene_variant,,ENST00000469445,;TMEM214,upstream_gene_variant,,ENST00000460665,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,downstream_gene_variant,,ENST00000495312,;TMEM214,downstream_gene_variant,,ENST00000478980,;	589	81	53	SUCCESS
GK5	256356	.	GRCh37	3	141884509	141884509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	224	609	1	ENST00000392993.2:c.1545G>T	p.Trp515Cys	p.W515C	ENST00000392993	NM_001039547.2	515	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS33871.1	1545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCCAGTT	NONE	.	.	hmmpanther:PTHR10196:SF54,hmmpanther:PTHR10196,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067	.	.	ENSP00000418001	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000392993	Transcript	.	.	ENSG00000175066	28635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLPK5_HUMAN	GK5	HGNC	.	.	UPI000069B0CB	SNV	GK5,missense_variant,p.Trp515Cys,ENST00000392993,;GK5,downstream_gene_variant,,ENST00000486459,;RP11-485G4.2,upstream_gene_variant,,ENST00000608374,;GK5,3_prime_UTR_variant,,ENST00000480757,;GK5,3_prime_UTR_variant,,ENST00000492097,;GK5,non_coding_transcript_exon_variant,,ENST00000460515,;GK5,downstream_gene_variant,,ENST00000463349,;	1697	610	474	SUCCESS
XRN1	54464	.	GRCh37	3	142136023	142136023	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	274	95	416	1	ENST00000264951.4:c.1395G>A	p.Trp465Ter	p.W465*	ENST00000264951	NM_019001.3	465	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS3123.1	1395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCCACTG	NONE	.	.	hmmpanther:PTHR12341:SF9,hmmpanther:PTHR12341,PIRSF_domain:PIRSF006743	.	.	ENSP00000264951	.	13/42	.	.	.	.	.	.	.	.	.	13/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	SNV	XRN1,stop_gained,p.Trp465Ter,ENST00000392981,;XRN1,stop_gained,p.Trp465Ter,ENST00000264951,;XRN1,upstream_gene_variant,,ENST00000498077,;XRN1,downstream_gene_variant,,ENST00000544157,;XRN1,downstream_gene_variant,,ENST00000463916,;RNU1-100P,downstream_gene_variant,,ENST00000365255,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;XRN1,downstream_gene_variant,,ENST00000486211,;XRN1,upstream_gene_variant,,ENST00000465507,;	1513	417	370	SUCCESS
GP5	2814	.	GRCh37	3	194117687	194117687	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	36	0	ENST00000401815.1:c.1325T>C	p.Leu442Pro	p.L442P	ENST00000401815		442	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3307.1	1325	RADIA|SOMATICSNIPER|MUSE	.	CCACGAGGCCT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF12,hmmpanther:PTHR24373	.	.	ENSP00000383931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000401815	Transcript	.	.	ENSG00000178732	4443	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.804)	.	deleterious(0.03)	.	GPV_HUMAN	GP5	HGNC	D1MER9_HUMAN	.	UPI000004B117	SNV	GP5,missense_variant,p.Leu442Pro,ENST00000323007,;GP5,missense_variant,p.Leu442Pro,ENST00000401815,;	1397	36	14	SUCCESS
DLEC1	9940	.	GRCh37	3	38080908	38080908	+	synonymous_variant	Silent	SNP	C	C	T	rs755511481	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	163	0	ENST00000308059.6:c.192C>T	p.Arg64=	p.R64=	ENST00000308059		64	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2672.2	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCCGCCT	NONE	.	.	.	.	.	ENSP00000308597	.	1/37	.	.	.	.	.	.	.	.	rs755511481	1/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,synonymous_variant,p.%3D,ENST00000308059,;DLEC1,synonymous_variant,p.%3D,ENST00000346219,;DLEC1,synonymous_variant,p.%3D,ENST00000452631,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;	213	163	128	SUCCESS
MST1R	4486	.	GRCh37	3	49940121	49940121	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs541331773	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	69	0	ENST00000296474.3:c.922C>T	p.Arg308Cys	p.R308C	ENST00000296474	NM_002447.2	308	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS2807.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGCCTGC	NONE	by1000G	.	PROSITE_profiles:PS51004,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,PIRSF_domain:PIRSF000617,Superfamily_domains:SSF101912	A:0	.	ENSP00000296474	A:0	1/20	.	.	.	.	.	.	.	.	rs541331773	1/20	PASS	ENST00000296474	Transcript	.	A:0.0002	ENSG00000164078	7381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0.001	deleterious(0)	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,missense_variant,p.Arg308Cys,ENST00000344206,;MST1R,missense_variant,p.Arg308Cys,ENST00000296474,;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,intron_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,missense_variant,p.Arg308Cys,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;MST1R,non_coding_transcript_exon_variant,,ENST00000493535,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;	950	69	52	SUCCESS
FOXP1	27086	.	GRCh37	3	71096149	71096149	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770216660	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	15	205	0	ENST00000318789.4:c.608G>A	p.Gly203Asp	p.G203D	ENST00000318789	NM_032682.5	203	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS58837.1	614	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCCTTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF147,hmmpanther:PTHR11829	.	.	ENSP00000420736	.	5/16	.	.	.	.	.	.	.	.	rs770216660	5/16	PASS	ENST00000491238	Transcript	.	.	ENSG00000114861	3823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	.	FOXP1	HGNC	Q8IXF4_HUMAN,E9PFD3_HUMAN,C9J5T4_HUMAN,C9IYY1_HUMAN,B4DMV4_HUMAN	.	UPI00002099BD	SNV	FOXP1,missense_variant,p.Gly205Asp,ENST00000491238,;FOXP1,missense_variant,p.Gly203Asp,ENST00000498215,;FOXP1,missense_variant,p.Gly203Asp,ENST00000318789,;FOXP1,missense_variant,p.Gly203Asp,ENST00000475937,;FOXP1,missense_variant,p.Gly99Asp,ENST00000497355,;FOXP1,missense_variant,p.Gly103Asp,ENST00000485326,;FOXP1,missense_variant,p.Gly203Asp,ENST00000468577,;FOXP1,missense_variant,p.Gly103Asp,ENST00000497553,;FOXP1,missense_variant,p.Gly203Asp,ENST00000493089,;FOXP1,missense_variant,p.Gly127Asp,ENST00000484350,;FOXP1,non_coding_transcript_exon_variant,,ENST00000472382,;FOXP1,missense_variant,p.Gly203Asp,ENST00000327590,;	768	205	133	SUCCESS
SGCB	6443	.	GRCh37	4	52890227	52890227	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	15	167	0	ENST00000381431.5:c.853T>C	p.Tyr285His	p.Y285H	ENST00000381431	NM_000232.4	285	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS3488.1	853	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTAGCGTA	NONE	.	.	hmmpanther:PTHR21142,Pfam_domain:PF04790	.	.	ENSP00000370839	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381431	Transcript	1	.	ENSG00000163069	10806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	SGCB_HUMAN	SGCB	HGNC	Q5U0N0_HUMAN	.	UPI000013590B	SNV	SGCB,missense_variant,p.Tyr285His,ENST00000381431,;SGCB,missense_variant,p.Tyr215His,ENST00000535450,;SGCB,downstream_gene_variant,,ENST00000514133,;SGCB,downstream_gene_variant,,ENST00000506357,;	1076	167	116	SUCCESS
ALB	213	.	GRCh37	4	74275126	74275126	+	frameshift_variant	Frame_Shift_Ins	INS	T	T	CC	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	117	348	0	ENST00000295897.4:c.537delinsCC	p.Phe180LeufsTer4	p.F180Lfs*4	ENST00000295897	NM_000477.5	179	ctT/ctCC	0	.	.	.	.	.	CC	L/LX	protein_coding	YES	CCDS3555.1	537	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ACTCCTTTTCTT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	substitution	ALB,frameshift_variant,p.Phe180LeufsTer4,ENST00000509063,;ALB,frameshift_variant,p.Phe25LeufsTer4,ENST00000511370,;ALB,frameshift_variant,p.Phe180LeufsTer4,ENST00000295897,;ALB,frameshift_variant,p.Phe182LeufsTer4,ENST00000441319,;ALB,frameshift_variant,p.Phe30LeufsTer4,ENST00000503124,;ALB,frameshift_variant,p.Phe65LeufsTer4,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,frameshift_variant,p.Phe45SerfsTer432,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	626	348	339	SUCCESS
ALB	213	.	GRCh37	4	74275205	74275205	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs75828235	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	188	0	ENST00000295897.4:c.615+1G>A		p.X205_splice	ENST00000295897	NM_000477.5	205		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3555.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGTATTA	NONE	byCluster	.	.	.	.	ENSP00000295897	.	.	.	.	.	.	.	.	.	.	rs75828235	.	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,splice_donor_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,splice_donor_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	.	188	134	SUCCESS
PDHA2	5161	.	GRCh37	4	96762199	96762199	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776756344	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	34	108	0	ENST00000295266.4:c.898C>A	p.Arg300Ser	p.R300S	ENST00000295266	NM_005390.4	300	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3644.1	898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTATCGTACA	BUFFER|p.R300C|c.898C>T|3,BUFFER|p.R302*|c.904C>T|3	byFrequency	.	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	rs776756344,COSM276699,COSM331425	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	0,1,1	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,missense_variant,p.Arg300Ser,ENST00000295266,;	961	108	64	SUCCESS
KIAA0947	0	.	GRCh37	5	5463354	5463354	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs143644235	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	102	0	ENST00000296564.7:c.3907A>G	p.Ser1303Gly	p.S1303G	ENST00000296564	NM_015325.2	1303	Agt/Ggt	0	.	G:0	.	G:0	.	G	S/G	protein_coding	YES	CCDS47187.1	3907	MUTECT|MUSE	.	AGAAAAGTCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	G:0	.	ENSP00000296564	G:0.001	13/19	.	.	.	.	.	.	.	.	rs143644235	13/19	PASS	ENST00000296564	Transcript	.	G:0.0002	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	G:0	tolerated(0.28)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Ser1303Gly,ENST00000296564,;	4129	102	79	SUCCESS
GPR98	0	.	GRCh37	5	89971070	89971070	+	synonymous_variant	Silent	SNP	G	G	A	rs1195132598	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	40	81	0	ENST00000405460.2:c.5121G>A	p.Gln1707=	p.Q1707=	ENST00000405460	NM_032119.3	1707	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS47246.1	5121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGTTCTC	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	24/90	.	.	.	.	.	.	.	.	.	24/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;GPR98,non_coding_transcript_exon_variant,,ENST00000450321,;	5217	81	52	SUCCESS
ADAT2	134637	.	GRCh37	6	143755117	143755117	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	33	0	ENST00000237283.8:c.203C>T	p.Ala68Val	p.A68V	ENST00000237283	NM_182503.2	68	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43511.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTAGCCTGA	NONE	.	.	Superfamily_domains:SSF53927,Gene3D:3.40.140.10,Pfam_domain:PF00383,hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF47,HAMAP:MF_00972	.	.	ENSP00000237283	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000237283	Transcript	.	.	ENSG00000189007	21172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADAT2_HUMAN	ADAT2	HGNC	.	.	UPI00001A3A7E	SNV	ADAT2,missense_variant,p.Ala21Val,ENST00000606514,;ADAT2,missense_variant,p.Ala68Val,ENST00000237283,;AL031320.1,upstream_gene_variant,,ENST00000595616,;TUBB8P2,upstream_gene_variant,,ENST00000402141,;	218	33	23	SUCCESS
TAP1	6890	.	GRCh37	6	32820940	32820940	+	synonymous_variant	Silent	SNP	C	C	A	rs1173286127	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	28	117	0	ENST00000354258.4:c.654G>T	p.Gly218=	p.G218=	ENST00000354258	NM_000593.5	218	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4758.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCCCGAG	NONE	.	.	hmmpanther:PTHR24221:SF3,hmmpanther:PTHR24221,TIGRFAM_domain:TIGR00958,Prints_domain:PR01896	.	.	ENSP00000346206	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000354258	Transcript	.	.	ENSG00000168394	43	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAP1_HUMAN	TAP1	HGNC	Q9UEE1_HUMAN,Q69DM1_HUMAN,Q53WZ1_HUMAN,F5H648_HUMAN	.	UPI000002D4E6	SNV	TAP1,synonymous_variant,p.%3D,ENST00000354258,;PSMB9,intron_variant,,ENST00000395330,;PSMB9,intron_variant,,ENST00000414474,;PSMB9,upstream_gene_variant,,ENST00000374859,;PSMB9,upstream_gene_variant,,ENST00000453265,;TAP1,upstream_gene_variant,,ENST00000425148,;PSMB9,upstream_gene_variant,,ENST00000467593,;TAP1,upstream_gene_variant,,ENST00000487296,;TAP1,upstream_gene_variant,,ENST00000486332,;PSMB9,upstream_gene_variant,,ENST00000464863,;	816	117	92	SUCCESS
GFRAL	389400	.	GRCh37	6	55223877	55223877	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs766549763	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	56	125	0	ENST00000340465.2:c.893A>C	p.Gln298Pro	p.Q298P	ENST00000340465	NM_207410.2	298	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS4957.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACAAAGTG	NONE	.	.	hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,Pfam_domain:PF02351,SMART_domains:SM00907,Superfamily_domains:0042655	.	.	ENSP00000343636	.	6/9	.	.	.	.	.	.	.	.	rs766549763	6/9	PASS	ENST00000340465	Transcript	.	.	ENSG00000187871	32789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	GFRAL_HUMAN	GFRAL	HGNC	.	.	UPI000023780D	SNV	GFRAL,missense_variant,p.Gln298Pro,ENST00000340465,;	979	125	109	SUCCESS
CUX1	1523	.	GRCh37	7	101840082	101840082	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs569218052	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	39	168	0	ENST00000292535.7:c.1391C>A	p.Ser464Tyr	p.S464Y	ENST00000292535	NM_181552.3	464	tCc/tAc	0	.	A:0.0008	.	A:0	.	A	S/Y	protein_coding	YES	CCDS56498.1	1424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCCCTGG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043	A:0	.	ENSP00000353401	A:0	15/24	.	.	.	.	.	.	.	.	rs569218052	15/24	PASS	ENST00000360264	Transcript	.	A:0.0002	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	tolerated(0.05)	.	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,missense_variant,p.Ser464Tyr,ENST00000549414,;CUX1,missense_variant,p.Ser475Tyr,ENST00000360264,;CUX1,missense_variant,p.Ser464Tyr,ENST00000292535,;CUX1,missense_variant,p.Ser464Tyr,ENST00000550008,;CUX1,intron_variant,,ENST00000437600,;CUX1,intron_variant,,ENST00000547394,;CUX1,intron_variant,,ENST00000546411,;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000556210,;CUX1,intron_variant,,ENST00000425244,;CUX1,intron_variant,,ENST00000393824,;SNORA48,upstream_gene_variant,,ENST00000517015,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	1444	168	123	SUCCESS
ADCYAP1R1	117	.	GRCh37	7	31125006	31125006	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	33	0	ENST00000304166.4:c.618A>G	p.Lys206=	p.K206=	ENST00000304166	NM_001199636.1	206	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS56480.1	618	RADIA|VARSCANS	.	ATCAAAGACTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000379514	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000396211	Transcript	.	.	ENSG00000078549	242	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PACR_HUMAN	ADCYAP1R1	HGNC	Q6S991_HUMAN,Q6RKA2_HUMAN,C9JVH3_HUMAN	.	UPI0000DA58BA	SNV	ADCYAP1R1,synonymous_variant,p.%3D,ENST00000409363,;ADCYAP1R1,synonymous_variant,p.%3D,ENST00000409489,;ADCYAP1R1,synonymous_variant,p.%3D,ENST00000304166,;ADCYAP1R1,synonymous_variant,p.%3D,ENST00000396211,;ADCYAP1R1,upstream_gene_variant,,ENST00000436116,;	689	33	32	SUCCESS
ASAP1	50807	.	GRCh37	8	131130888	131130888	+	synonymous_variant	Silent	SNP	A	A	G	rs749003615	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	66	171	0	ENST00000518721.1:c.1641T>C	p.Tyr547=	p.Y547=	ENST00000518721	NM_001247996.1	547	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS6362.1	1641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACATACTT	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863	.	.	ENSP00000350297	.	18/29	.	.	.	.	.	.	.	.	rs749003615	18/29	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,synonymous_variant,p.%3D,ENST00000518721,;ASAP1,synonymous_variant,p.%3D,ENST00000524124,;ASAP1,synonymous_variant,p.%3D,ENST00000357668,;ASAP1,upstream_gene_variant,,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000521057,;	1669	171	242	SUCCESS
RECQL4	9401	.	GRCh37	8	145740718	145740718	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	9	133	0	ENST00000428558.2:c.1382A>T	p.Gln461Leu	p.Q461L	ENST00000428558	NM_004260.3	461	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	1382	MUTECT|MUSE	.	CCAACTGCCCT	NONE	.	.	hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1	.	.	ENSP00000475456	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.217)	.	deleterious(0.01)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Gln461Leu,ENST00000428558,;RECQL4,missense_variant,p.Gln90Leu,ENST00000532846,;MFSD3,downstream_gene_variant,,ENST00000301327,;LRRC14,upstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000529022,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000292524,;LRRC14,upstream_gene_variant,,ENST00000530854,;CTD-2517M22.17,downstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;LRRC14,upstream_gene_variant,,ENST00000531310,;	1424	133	141	SUCCESS
PXDNL	137902	.	GRCh37	8	52321594	52321594	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs936865843	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	80	0	ENST00000356297.4:c.2590C>T	p.Arg864Cys	p.R864C	ENST00000356297	NM_144651.4	864	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS47855.1	2590	MUTECT|MUSE	.	GGAGCGCGCGA	SITE|p.R864C|c.2590C>T|3,BUFFER|p.R63C|c.187C>T|3	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000348645	.	17/23	.	.	.	.	.	.	.	.	COSM267865,COSM267866	17/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.55)	.	deleterious(0.03)	1,1	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Arg864Cys,ENST00000543296,;PXDNL,missense_variant,p.Arg864Cys,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,missense_variant,p.Arg130Cys,ENST00000522628,;	2691	80	85	SUCCESS
CALB1	793	.	GRCh37	8	91072909	91072909	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	34	96	0	ENST00000265431.3:c.620A>C	p.Asp207Ala	p.D207A	ENST00000265431	NM_004929.2	207	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS6251.1	620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCATCTATG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR19972,hmmpanther:PTHR19972:SF3,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13405,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000265431	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000265431	Transcript	.	.	ENSG00000104327	1434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	CALB1_HUMAN	CALB1	HGNC	O75552_HUMAN,E5RIZ8_HUMAN,E5RG14_HUMAN,B7Z9J4_HUMAN	.	UPI000013D620	SNV	CALB1,missense_variant,p.Asp150Ala,ENST00000518457,;CALB1,missense_variant,p.Asp207Ala,ENST00000265431,;CALB1,downstream_gene_variant,,ENST00000520613,;CALB1,downstream_gene_variant,,ENST00000523716,;CALB1,non_coding_transcript_exon_variant,,ENST00000497376,;CALB1,non_coding_transcript_exon_variant,,ENST00000469032,;CALB1,downstream_gene_variant,,ENST00000522070,;	802	96	121	SUCCESS
KCNV2	169522	.	GRCh37	9	2729648	2729648	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	8	164	0	ENST00000382082.3:c.1559T>G	p.Phe520Cys	p.F520C	ENST00000382082	NM_133497.3	520	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS6447.1	1559	MUTECT|MUSE|VARSCANS	.	GAACTTCATGC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	.	ENSP00000371514	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,missense_variant,p.Phe520Cys,ENST00000382082,;KIAA0020,intron_variant,,ENST00000490444,;	1797	164	94	SUCCESS
ARSD	414	.	GRCh37	X	2831775	2831775	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	42	0	ENST00000381154.1:c.1000+1822T>C		p.*334*	ENST00000381154	NM_001669.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35196.1	.	RADIA|VARSCANS	.	GGTTGACAATA	NONE	.	.	.	.	.	ENSP00000370546	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381154	Transcript	.	.	ENSG00000006756	717	.	.	MODIFIER	6/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARSD_HUMAN	ARSD	HGNC	.	.	UPI0000070902	SNV	ARSD,intron_variant,,ENST00000381154,;ARSD,upstream_gene_variant,,ENST00000458014,;ARSD,non_coding_transcript_exon_variant,,ENST00000217890,;ARSD,intron_variant,,ENST00000495294,;ARSD,downstream_gene_variant,,ENST00000481340,;	.	42	34	SUCCESS
CHDC2	0	.	GRCh37	X	36156116	36156116	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	8	214	0	ENST00000313548.4:c.1087G>C	p.Asp363His	p.D363H	ENST00000313548	NM_173695.2	363	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS14238.1	1087	MUTECT|MUSE	.	ACAAAGACCTT	NONE	.	.	Superfamily_domains:SSF47576,Gene3D:1.10.418.10,Pfam_domain:PF00307,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4	.	.	ENSP00000324767	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000313548	Transcript	.	.	ENSG00000176034	26708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.889)	.	deleterious(0.03)	.	CHDC2_HUMAN	CHDC2	HGNC	.	.	UPI000006F5CD	SNV	CHDC2,missense_variant,p.Asp363His,ENST00000313548,;CHDC2,missense_variant,p.Asp539His,ENST00000378660,;	1273	214	150	SUCCESS
RBM10	8241	.	GRCh37	X	47041174	47041185	+	inframe_deletion	In_Frame_Del	DEL	GCTCAAATCTGA	GCTCAAATCTGA	-	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	GCTCAAATCTGA	GCTCAAATCTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	4	25	96	0	ENST00000329236.7:c.1372_1383del	p.Lys458_Leu461del	p.K458_L461del	ENST00000329236	NM_001204466.1	456	gtGCTCAAATCTGAg/gtg	0	.	.	.	.	.	-	VLKSE/V	protein_coding	YES	CCDS14274.1	1602-1613	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCTGTGCTCAAATCTGAGCTCC	NONE	.	.	hmmpanther:PTHR13948:SF4,hmmpanther:PTHR13948	.	.	ENSP00000366829	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000377604	Transcript	.	.	ENSG00000182872	9896	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBM10_HUMAN	RBM10	HGNC	.	.	UPI0000070DF1	deletion	RBM10,inframe_deletion,p.Lys458_Leu461del,ENST00000329236,;RBM10,inframe_deletion,p.Lys536_Leu539del,ENST00000377604,;RBM10,inframe_deletion,p.Lys459_Leu462del,ENST00000345781,;RBM10,downstream_gene_variant,,ENST00000478410,;RBM10,downstream_gene_variant,,ENST00000496012,;	2344-2355	96	29	SUCCESS
SORCS3	22986	.	GRCh37	10	106970970	106970970	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	30	192	0	ENST00000369699.4:c.195G>T	p.Lys65Asn	p.K65N	ENST00000369699		65	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7558.1	2337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGGACTG	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,SMART_domains:SM00602	.	.	ENSP00000358715	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	deleterious(0.04)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Lys140Asn,ENST00000393176,;SORCS3,missense_variant,p.Lys779Asn,ENST00000369701,;SORCS3,missense_variant,p.Lys65Asn,ENST00000369699,;	2564	192	131	SUCCESS
SCN2B	6327	.	GRCh37	11	118037686	118037686	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	55	308	1	ENST00000278947.5:c.564G>A	p.Glu188=	p.E188=	ENST00000278947	NM_004588.4	188	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8390.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCTCTTT	NONE	.	.	hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF3	.	.	ENSP00000278947	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000278947	Transcript	.	.	ENSG00000149575	10589	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN2B_HUMAN	SCN2B	HGNC	Q5U0K8_HUMAN	.	UPI000000165E	SNV	SCN2B,synonymous_variant,p.%3D,ENST00000278947,;	806	310	195	SUCCESS
ODF3	113746	.	GRCh37	11	197590	197590	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759896013	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	9	74	0	ENST00000325113.4:c.139C>A	p.Arg47Ser	p.R47S	ENST00000325113	NM_053280.3	47	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS7688.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCGTGCA	NONE	.	.	hmmpanther:PTHR21580:SF7,hmmpanther:PTHR21580,Pfam_domain:PF07004	.	.	ENSP00000325868	.	3/7	.	.	.	.	.	.	.	.	rs759896013	3/7	PASS	ENST00000325113	Transcript	.	.	ENSG00000177947	19905	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.461)	.	deleterious(0)	.	ODF3A_HUMAN	ODF3	HGNC	.	.	UPI0000072C66	SNV	ODF3,missense_variant,p.Arg47Ser,ENST00000342593,;ODF3,missense_variant,p.Arg47Ser,ENST00000525282,;ODF3,missense_variant,p.Arg47Ser,ENST00000325113,;BET1L,intron_variant,,ENST00000410108,;SCGB1C1,downstream_gene_variant,,ENST00000342878,;ODF3,non_coding_transcript_exon_variant,,ENST00000531679,;	456	74	63	SUCCESS
EHBP1L1	254102	.	GRCh37	11	65349836	65349836	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	50	0	ENST00000309295.4:c.1693G>A	p.Gly565Arg	p.G565R	ENST00000309295	NM_001099409.1	565	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS44649.1	1693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGGGGGT	NONE	.	.	hmmpanther:PTHR25069:SF112,hmmpanther:PTHR25069	.	.	ENSP00000312671	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000309295	Transcript	.	.	ENSG00000173442	30682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.06)	.	EH1L1_HUMAN	EHBP1L1	HGNC	.	.	UPI00001605A9	SNV	EHBP1L1,missense_variant,p.Gly565Arg,ENST00000309295,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;	1958	50	37	SUCCESS
FAM76B	143684	.	GRCh37	11	95516268	95516268	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1419396729	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	204	67	418	0	ENST00000358780.5:c.524A>G	p.His175Arg	p.H175R	ENST00000358780	NM_144664.4	175	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS41700.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22875:SF9,hmmpanther:PTHR22875	.	.	ENSP00000351631	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000358780	Transcript	.	.	ENSG00000077458	28492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	tolerated(0.44)	.	FA76B_HUMAN	FAM76B	HGNC	.	.	UPI0000D62675	SNV	FAM76B,missense_variant,p.Ile79Val,ENST00000540054,;FAM76B,missense_variant,p.His175Arg,ENST00000536839,;FAM76B,missense_variant,p.Ile79Val,ENST00000542135,;FAM76B,missense_variant,p.His175Arg,ENST00000358780,;FAM76B,downstream_gene_variant,,ENST00000537749,;FAM76B,downstream_gene_variant,,ENST00000538047,;FAM76B,missense_variant,p.His175Arg,ENST00000543641,;FAM76B,missense_variant,p.His175Arg,ENST00000398187,;FAM76B,non_coding_transcript_exon_variant,,ENST00000535919,;FAM76B,non_coding_transcript_exon_variant,,ENST00000545654,;FAM76B,downstream_gene_variant,,ENST00000538316,;FAM76B,upstream_gene_variant,,ENST00000541418,;FAM76B,upstream_gene_variant,,ENST00000545813,;	837	418	272	SUCCESS
SETD1B	23067	.	GRCh37	12	122247600	122247600	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	64	0	ENST00000604567.1:c.749C>A	p.Thr250Lys	p.T250K	ENST00000604567		250	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS53838.1	749	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACACCCT	NONE	.	.	hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	.	.	ENSP00000267197	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000267197	Transcript	.	.	ENSG00000139718	29187	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,missense_variant,p.Thr250Lys,ENST00000604567,;SETD1B,missense_variant,p.Thr250Lys,ENST00000542440,;SETD1B,missense_variant,p.Thr250Lys,ENST00000267197,;	755	64	49	SUCCESS
ZNF664	144348	.	GRCh37	12	124496675	124496675	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs768121363	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	77	0	ENST00000337815.4:c.-17G>C		p.*6*	ENST00000337815				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9257.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACGATACC	NONE	byFrequency	.	.	.	.	ENSP00000441405	.	6/6	.	.	.	.	.	.	.	.	rs768121363	6/6	PASS	ENST00000539644	Transcript	.	.	ENSG00000179195	25406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN664_HUMAN	ZNF664	HGNC	.	.	UPI0000023E91	SNV	ZNF664,5_prime_UTR_variant,,ENST00000539644,;ZNF664,5_prime_UTR_variant,,ENST00000392404,;ZNF664,5_prime_UTR_variant,,ENST00000538932,;ZNF664,5_prime_UTR_variant,,ENST00000337815,;FAM101A,intron_variant,,ENST00000540762,;FAM101A,intron_variant,,ENST00000545615,;ZNF664,downstream_gene_variant,,ENST00000542493,;ZNF664,downstream_gene_variant,,ENST00000541448,;ZNF664,downstream_gene_variant,,ENST00000539501,;ZNF664,downstream_gene_variant,,ENST00000537532,;ZNF664,downstream_gene_variant,,ENST00000543017,;ZNF664,downstream_gene_variant,,ENST00000546098,;	1814	77	63	SUCCESS
GJB6	10804	.	GRCh37	13	20797362	20797362	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	85	0	ENST00000241124.6:c.258C>A	p.Thr86=	p.T86=	ENST00000241124	NM_006783.4	86	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9291.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGGTGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF23,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206	.	.	ENSP00000348521	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000356192	Transcript	.	.	ENSG00000121742	4288	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB6_HUMAN	GJB6	HGNC	.	.	UPI0000074737	SNV	GJB6,synonymous_variant,p.%3D,ENST00000241124,;GJB6,synonymous_variant,p.%3D,ENST00000356192,;GJB6,synonymous_variant,p.%3D,ENST00000400065,;GJB6,synonymous_variant,p.%3D,ENST00000400066,;	879	85	43	SUCCESS
OR10G2	26534	.	GRCh37	14	22102803	22102803	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs370971403	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	55	385	0	ENST00000542433.1:c.196A>G	p.Ile66Val	p.I66V	ENST00000542433	NM_001005466.1	66	Att/Gtt	0	G:0	.	.	.	.	C	I/V	protein_coding	YES	CCDS32047.1	196	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATGTACA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	G:0.0001	ENSP00000445383	.	1/1	.	.	.	.	.	.	.	.	rs370971403	1/1	PASS	ENST00000542433	Transcript	.	.	ENSG00000255582	8170	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	deleterious(0.03)	.	O10G2_HUMAN	OR10G2	HGNC	.	.	UPI0000041E5C	SNV	OR10G2,missense_variant,p.Ile66Val,ENST00000542433,;	294	385	236	SUCCESS
SERPINA1	5265	.	GRCh37	14	94845816	94845816	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	67	0	ENST00000355814.4:c.1050C>T	p.Pro350=	p.P350=	ENST00000355814	NM_001002235.2	350	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9925.1	1050	MUTECT|MUSE|VARSCANS	.	TTCAGGGGTGC	NONE	.	.	Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461:SF150,hmmpanther:PTHR11461	.	.	ENSP00000416066	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000448921	Transcript	1	.	ENSG00000197249	8941	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A1AT_HUMAN	SERPINA1	HGNC	Q3I0J7_HUMAN,G3V5R8_HUMAN,G3V544_HUMAN,G3V4I7_HUMAN,G3V387_HUMAN,G3V2B9_HUMAN,E9KL23_HUMAN,A6YP93_HUMAN	.	UPI000000CBEC	SNV	SERPINA1,synonymous_variant,p.%3D,ENST00000448921,;SERPINA1,synonymous_variant,p.%3D,ENST00000449399,;SERPINA1,synonymous_variant,p.%3D,ENST00000355814,;SERPINA1,synonymous_variant,p.%3D,ENST00000404814,;SERPINA1,synonymous_variant,p.%3D,ENST00000393088,;SERPINA1,synonymous_variant,p.%3D,ENST00000393087,;SERPINA1,synonymous_variant,p.%3D,ENST00000437397,;SERPINA1,synonymous_variant,p.%3D,ENST00000402629,;SERPINA1,synonymous_variant,p.%3D,ENST00000440909,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,3_prime_UTR_variant,,ENST00000489769,;	1623	67	46	SUCCESS
FAN1	22909	.	GRCh37	15	31221547	31221547	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	128	0	ENST00000362065.4:c.2734A>G	p.Arg912Gly	p.R912G	ENST00000362065	NM_014967.4	912	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS32186.1	2734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCAGAGTG	NONE	.	.	hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749,Pfam_domain:PF08774,SMART_domains:SM00990	.	.	ENSP00000354497	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000362065	Transcript	1	.	ENSG00000198690	29170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	FAN1_HUMAN	FAN1	HGNC	.	.	UPI000006D713	SNV	FAN1,missense_variant,p.Arg912Gly,ENST00000362065,;RP11-540B6.6,downstream_gene_variant,,ENST00000602886,;FAN1,non_coding_transcript_exon_variant,,ENST00000568145,;FAN1,3_prime_UTR_variant,,ENST00000565280,;FAN1,non_coding_transcript_exon_variant,,ENST00000562881,;	3025	128	86	SUCCESS
VPS13C	54832	.	GRCh37	15	62352482	62352482	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	70	0	ENST00000261517.5:c.92T>G	p.Ile31Ser	p.I31S	ENST00000261517	NM_020821.2	31	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS32257.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGATGCCC	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166,Pfam_domain:PF12624	.	.	ENSP00000261517	.	1/85	.	.	.	.	.	.	.	.	.	1/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	deleterious(0)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Ile31Ser,ENST00000261517,;VPS13C,missense_variant,p.Ile31Ser,ENST00000395896,;VPS13C,missense_variant,p.Ile31Ser,ENST00000249837,;VPS13C,missense_variant,p.Ile31Ser,ENST00000395898,;RP11-643M14.1,upstream_gene_variant,,ENST00000558368,;RP11-643M14.1,upstream_gene_variant,,ENST00000560813,;	166	70	37	SUCCESS
GRB7	2886	.	GRCh37	17	37902437	37902437	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	164	0	ENST00000309156.4:c.1434G>T	p.Lys478Asn	p.K478N	ENST00000309156	NM_005310.3	478	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS56028.1	1503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGCATTA	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR11243:SF24,hmmpanther:PTHR11243,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000403459	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000445327	Transcript	.	.	ENSG00000141738	4567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	GRB7_HUMAN	GRB7	HGNC	.	.	UPI0001AE662D	SNV	GRB7,missense_variant,p.Lys478Asn,ENST00000394209,;GRB7,missense_variant,p.Lys501Asn,ENST00000445327,;GRB7,missense_variant,p.Lys478Asn,ENST00000394211,;GRB7,missense_variant,p.Lys478Asn,ENST00000309156,;GRB7,3_prime_UTR_variant,,ENST00000309185,;GRB7,3_prime_UTR_variant,,ENST00000394204,;GRB7,downstream_gene_variant,,ENST00000577695,;GRB7,downstream_gene_variant,,ENST00000578702,;GRB7,downstream_gene_variant,,ENST00000473071,;GRB7,downstream_gene_variant,,ENST00000461756,;GRB7,downstream_gene_variant,,ENST00000584053,;GRB7,downstream_gene_variant,,ENST00000485182,;GRB7,downstream_gene_variant,,ENST00000584819,;GRB7,downstream_gene_variant,,ENST00000583813,;	1638	164	92	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39274140	39274140	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765695476	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	104	0	ENST00000391413.2:c.428G>T	p.Ser143Ile	p.S143I	ENST00000391413	NM_033059.3	143	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS45675.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCTGGAG	BUFFER|p.S140C|c.418A>T|8	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1,Pfam_domain:PF13885	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	rs765695476	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,missense_variant,p.Ser143Ile,ENST00000391413,;	467	104	63	SUCCESS
EFCAB13	124989	.	GRCh37	17	45451912	45451912	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	39	295	0	ENST00000331493.2:c.952A>C	p.Lys318Gln	p.K318Q	ENST00000331493	NM_152347.4	318	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS11512.1	952	RADIA|MUTECT|MUSE	.	ATCTAAAATAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22656	.	.	ENSP00000332111	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(1)	.	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,missense_variant,p.Lys74Gln,ENST00000517310,;EFCAB13,missense_variant,p.Lys222Gln,ENST00000517484,;EFCAB13,missense_variant,p.Lys318Gln,ENST00000331493,;EFCAB13,upstream_gene_variant,,ENST00000523842,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000523978,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000520776,;EFCAB13,upstream_gene_variant,,ENST00000522326,;	1363	295	150	SUCCESS
EFCAB13	124989	.	GRCh37	17	45451924	45451924	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	41	328	0	ENST00000331493.2:c.964A>C	p.Lys322Gln	p.K322Q	ENST00000331493	NM_152347.4	322	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS11512.1	964	RADIA|MUTECT|MUSE	.	AGAAGAAAAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22656	.	.	ENSP00000332111	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,missense_variant,p.Lys78Gln,ENST00000517310,;EFCAB13,missense_variant,p.Lys226Gln,ENST00000517484,;EFCAB13,missense_variant,p.Lys322Gln,ENST00000331493,;EFCAB13,upstream_gene_variant,,ENST00000523842,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000523978,;EFCAB13,non_coding_transcript_exon_variant,,ENST00000520776,;EFCAB13,upstream_gene_variant,,ENST00000522326,;	1375	328	162	SUCCESS
OSBPL7	114881	.	GRCh37	17	45894019	45894019	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	83	0	ENST00000007414.3:c.838C>A	p.Leu280Met	p.L280M	ENST00000007414	NM_145798.2	280	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS11515.1	838	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGGTAGC	NONE	.	.	hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972	.	.	ENSP00000007414	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.12)	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,missense_variant,p.Leu280Met,ENST00000392507,;OSBPL7,missense_variant,p.Leu280Met,ENST00000007414,;OSBPL7,missense_variant,p.Leu280Met,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000580140,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000580808,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000584698,;OSBPL7,downstream_gene_variant,,ENST00000580226,;OSBPL7,downstream_gene_variant,,ENST00000585051,;	1030	83	56	SUCCESS
GNA13	10672	.	GRCh37	17	63014414	63014414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	230	17	350	0	ENST00000439174.2:c.518C>A	p.Ser173Tyr	p.S173Y	ENST00000439174	NM_006572.4	173	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS11661.1	518	MUTECT|MUSE	.	TTACAGATTCA	NONE	.	.	hmmpanther:PTHR10218:SF85,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000400717	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000439174	Transcript	.	.	ENSG00000120063	4381	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	GNA13_HUMAN	GNA13	HGNC	F5H1G8_HUMAN	.	UPI0000073EBA	SNV	GNA13,missense_variant,p.Ser78Tyr,ENST00000541118,;GNA13,missense_variant,p.Ser173Tyr,ENST00000439174,;	764	350	248	SUCCESS
BPTF	2186	.	GRCh37	17	65942113	65942113	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	26	179	0	ENST00000321892.4:c.7667C>T	p.Pro2556Leu	p.P2556L	ENST00000321892		2556	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11673.1	7289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCCCAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Pro2430Leu,ENST00000306378,;BPTF,missense_variant,p.Pro2556Leu,ENST00000321892,;BPTF,intron_variant,,ENST00000342579,;BPTF,intron_variant,,ENST00000424123,;BPTF,intron_variant,,ENST00000335221,;BPTF,intron_variant,,ENST00000580465,;BPTF,upstream_gene_variant,,ENST00000581258,;BPTF,downstream_gene_variant,,ENST00000544778,;RP11-855A2.3,downstream_gene_variant,,ENST00000577385,;BPTF,downstream_gene_variant,,ENST00000577770,;BPTF,downstream_gene_variant,,ENST00000582406,;BPTF,downstream_gene_variant,,ENST00000584931,;	7349	179	133	SUCCESS
EVPL	2125	.	GRCh37	17	74014678	74014678	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	186	0	ENST00000301607.3:c.1288C>A	p.Gln430Lys	p.Q430K	ENST00000301607	NM_001988.2	430	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS11737.1	1288	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGCACCT	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.1)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Gln430Lys,ENST00000586740,;EVPL,missense_variant,p.Gln430Lys,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	1542	186	125	SUCCESS
MGAT5B	146664	.	GRCh37	17	74898718	74898718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	190	0	ENST00000569840.2:c.411G>T	p.Gln137His	p.Q137H	ENST00000569840	NM_001199172.1	137	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS45788.1	444	RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGATCCT	NONE	.	.	hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075	.	.	ENSP00000391227	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000428789	Transcript	.	.	ENSG00000167889	24140	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.105)	.	tolerated(0.05)	.	MGT5B_HUMAN	MGAT5B	HGNC	.	.	UPI0000231C88	SNV	MGAT5B,missense_variant,p.Gln148His,ENST00000428789,;MGAT5B,missense_variant,p.Gln137His,ENST00000569840,;MGAT5B,missense_variant,p.Gln137His,ENST00000301618,;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,missense_variant,p.Gln148His,ENST00000565043,;	547	190	96	SUCCESS
USP36	57602	.	GRCh37	17	76799931	76799931	+	synonymous_variant	Silent	SNP	C	C	A	rs577284191	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	103	0	ENST00000542802.3:c.2346G>T	p.Thr782=	p.T782=	ENST00000542802		782	acG/acT	0	.	T:0	.	T:0	.	A	T	protein_coding	YES	CCDS32755.1	2346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCCGTCGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR24006:SF409,hmmpanther:PTHR24006	T:0.001	.	ENSP00000441214	T:0.001	16/21	.	.	.	.	.	.	.	.	rs577284191	16/21	PASS	ENST00000542802	Transcript	.	T:0.0004	ENSG00000055483	20062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	UBP36_HUMAN	USP36	HGNC	K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN	.	UPI00000398BB	SNV	USP36,synonymous_variant,p.%3D,ENST00000542802,;USP36,synonymous_variant,p.%3D,ENST00000312010,;USP36,intron_variant,,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000592231,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,downstream_gene_variant,,ENST00000588467,;USP36,synonymous_variant,p.%3D,ENST00000589225,;USP36,synonymous_variant,p.%3D,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;	2790	104	66	SUCCESS
TRAPPC8	22878	.	GRCh37	18	29488317	29488317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	43	315	0	ENST00000283351.4:c.1187G>T	p.Ser396Ile	p.S396I	ENST00000283351	NM_014939.3	396	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS11901.1	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTACTGCCA	NONE	.	.	hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6,Pfam_domain:PF12739	.	.	ENSP00000283351	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000283351	Transcript	.	.	ENSG00000153339	29169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.808)	.	deleterious(0.01)	.	TPPC8_HUMAN	TRAPPC8	HGNC	J3QQJ5_HUMAN,J3QKL6_HUMAN	.	UPI0000052E22	SNV	TRAPPC8,missense_variant,p.Ser342Ile,ENST00000582539,;TRAPPC8,missense_variant,p.Ser396Ile,ENST00000582513,;TRAPPC8,missense_variant,p.Ser396Ile,ENST00000283351,;TRAPPC8,missense_variant,p.Ser396Ile,ENST00000580104,;	1523	316	205	SUCCESS
EPG5	57724	.	GRCh37	18	43528527	43528527	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	72	0	ENST00000282041.5:c.1513A>G	p.Asn505Asp	p.N505D	ENST00000282041	NM_020964.2	505	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11926.2	1513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTTATGCA	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	6/44	.	.	.	.	.	.	.	.	.	6/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.06)	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,missense_variant,p.Asn505Asp,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	1548	72	45	SUCCESS
GRP	2922	.	GRCh37	18	56892742	56892742	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	96	0	ENST00000256857.2:c.158A>G	p.Lys53Arg	p.K53R	ENST00000256857	NM_001012512.1	53	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS11971.1	158	MUTECT|MUSE	.	GAAAAAGAGCA	NONE	.	.	hmmpanther:PTHR16866,hmmpanther:PTHR16866:SF1,Pfam_domain:PF02044	.	.	ENSP00000256857	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000256857	Transcript	.	.	ENSG00000134443	4605	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRP_HUMAN	GRP	HGNC	.	.	UPI000013CF31	SNV	GRP,missense_variant,p.Lys53Arg,ENST00000529320,;GRP,missense_variant,p.Lys53Arg,ENST00000256857,;GRP,missense_variant,p.Lys7Arg,ENST00000456142,;GRP,missense_variant,p.Lys53Arg,ENST00000420468,;GRP,upstream_gene_variant,,ENST00000530323,;	256	96	85	SUCCESS
C19orf80	0	.	GRCh37	19	11352157	11352157	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	113	0	ENST00000252453.8:c.496C>T	p.Leu166Phe	p.L166F	ENST00000252453	NM_018687.6	166	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS54220.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCTCACA	NONE	.	.	hmmpanther:PTHR21463	.	.	ENSP00000252453	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000252453	Transcript	.	.	ENSG00000130173	24933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	BETAT_HUMAN	C19orf80	HGNC	K7EIY2_HUMAN	.	UPI000003F538	SNV	C19orf80,missense_variant,p.Leu166Phe,ENST00000252453,;C19orf80,missense_variant,p.Leu26Phe,ENST00000587543,;C19orf80,missense_variant,p.Leu67Phe,ENST00000591200,;DOCK6,intron_variant,,ENST00000294618,;DOCK6,upstream_gene_variant,,ENST00000590680,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000591750,;	515	113	62	SUCCESS
KMT2B	9757	.	GRCh37	19	36222960	36222960	+	synonymous_variant	Silent	SNP	T	T	C	rs747165687	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	52	0	ENST00000222270.7:c.5589T>C	p.Ala1863=	p.A1863=	ENST00000222270	NM_014727.1	1863	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46055.1	5589	RADIA|VARSCANS	.	GGGGCTCGAAT	CODON|p.R1866*|c.5596C>T|3	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	27/37	.	.	.	.	.	.	.	.	rs747165687	27/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,synonymous_variant,p.%3D,ENST00000420124,;KMT2B,synonymous_variant,p.%3D,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	5589	52	37	SUCCESS
SPINT2	10653	.	GRCh37	19	38782590	38782590	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200600070	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	226	1	ENST00000301244.7:c.703G>A	p.Val235Ile	p.V235I	ENST00000301244	NM_021102.3	235	Gtc/Atc	0	A:0.0007	.	.	.	.	A	V/I	protein_coding	YES	CCDS12510.1	703	RADIA|SOMATICSNIPER|VARSCANS	.	GCACCGTCTGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF177	.	A:0.0001	ENSP00000301244	.	7/7	.	.	.	.	.	.	.	.	rs200600070	7/7	PASS	ENST00000301244	Transcript	1	.	ENSG00000167642	11247	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.012)	.	tolerated(0.32)	.	SPIT2_HUMAN	SPINT2	HGNC	K7EM91_HUMAN,K7EKC8_HUMAN,K7EJS4_HUMAN	.	UPI0000135E8E	SNV	SPINT2,missense_variant,p.Val185Ile,ENST00000587090,;SPINT2,missense_variant,p.Val89Ile,ENST00000587334,;SPINT2,missense_variant,p.Val178Ile,ENST00000454580,;SPINT2,missense_variant,p.Val235Ile,ENST00000301244,;CTB-102L5.4,intron_variant,,ENST00000591889,;CTB-102L5.4,intron_variant,,ENST00000587519,;SPINT2,downstream_gene_variant,,ENST00000592007,;SPINT2,downstream_gene_variant,,ENST00000590510,;SPINT2,downstream_gene_variant,,ENST00000590738,;SPINT2,downstream_gene_variant,,ENST00000587516,;Y_RNA,upstream_gene_variant,,ENST00000363339,;SPINT2,non_coding_transcript_exon_variant,,ENST00000585357,;SPINT2,downstream_gene_variant,,ENST00000590210,;SPINT2,downstream_gene_variant,,ENST00000589749,;	1138	227	136	SUCCESS
IRGC	56269	.	GRCh37	19	44222899	44222899	+	synonymous_variant	Silent	SNP	G	G	A	rs570958028	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	59	1	ENST00000244314.5:c.189G>A	p.Ser63=	p.S63=	ENST00000244314	NM_019612.3	63	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12629.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGGGCGC	NONE	.	.	PROSITE_profiles:PS51716,hmmpanther:PTHR32341:SF7,hmmpanther:PTHR32341,Gene3D:3.40.50.300,Pfam_domain:PF05049,Superfamily_domains:SSF52540	.	.	ENSP00000244314	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000244314	Transcript	.	.	ENSG00000124449	28835	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IIGP5_HUMAN	IRGC	HGNC	J7NNX4_HUMAN	.	UPI000011DFC0	SNV	IRGC,synonymous_variant,p.%3D,ENST00000596627,;IRGC,synonymous_variant,p.%3D,ENST00000244314,;	388	60	41	SUCCESS
ZNF227	7770	.	GRCh37	19	44739253	44739253	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	113	0	ENST00000313040.7:c.670A>C	p.Lys224Gln	p.K224Q	ENST00000313040	NM_182490.1	224	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS12636.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAAAACCC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,Superfamily_domains:SSF57667	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.06)	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	SNV	ZNF227,missense_variant,p.Lys173Gln,ENST00000589005,;ZNF227,missense_variant,p.Lys224Gln,ENST00000313040,;ZNF227,missense_variant,p.Lys196Gln,ENST00000588394,;ZNF227,missense_variant,p.Lys173Gln,ENST00000391961,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	875	113	74	SUCCESS
DPP9	91039	.	GRCh37	19	4694666	4694666	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	57	0	ENST00000598800.1:c.1429+7A>C		p.X477_splice	ENST00000598800		477		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45928.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTGCTCA	NONE	.	.	.	.	.	ENSP00000262960	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	LOW	13/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,missense_variant,p.Gln508Pro,ENST00000597849,;DPP9,splice_region_variant,,ENST00000262960,;DPP9,splice_region_variant,,ENST00000598800,;DPP9,splice_region_variant,,ENST00000594671,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,splice_region_variant,,ENST00000597145,;DPP9,splice_region_variant,,ENST00000599163,;DPP9,splice_region_variant,,ENST00000599998,;DPP9,splice_region_variant,,ENST00000597253,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;	.	57	32	SUCCESS
POLD1	5424	.	GRCh37	19	50921165	50921165	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	44	232	0	ENST00000440232.2:c.3285C>T	p.Leu1095=	p.L1095=	ENST00000440232	NM_002691.3	1095	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12795.1	3285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCTGCG	NONE	.	.	hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF11	.	.	ENSP00000406046	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000440232	Transcript	1	.	ENSG00000062822	9175	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOD1_HUMAN	POLD1	HGNC	M0R2J2_HUMAN	.	UPI000007288E	SNV	POLD1,missense_variant,p.Pro287Ser,ENST00000593981,;POLD1,synonymous_variant,p.%3D,ENST00000595904,;POLD1,synonymous_variant,p.%3D,ENST00000599857,;POLD1,synonymous_variant,p.%3D,ENST00000440232,;CTD-2545M3.6,intron_variant,,ENST00000599632,;SPIB,upstream_gene_variant,,ENST00000439922,;SPIB,upstream_gene_variant,,ENST00000594685,;POLD1,downstream_gene_variant,,ENST00000593407,;SPIB,upstream_gene_variant,,ENST00000596074,;SPIB,upstream_gene_variant,,ENST00000270632,;SPIB,upstream_gene_variant,,ENST00000597855,;SPIB,upstream_gene_variant,,ENST00000595883,;POLD1,downstream_gene_variant,,ENST00000596425,;POLD1,3_prime_UTR_variant,,ENST00000600859,;POLD1,non_coding_transcript_exon_variant,,ENST00000596221,;POLD1,non_coding_transcript_exon_variant,,ENST00000597963,;SPIB,upstream_gene_variant,,ENST00000594188,;SPIB,upstream_gene_variant,,ENST00000599923,;POLD1,downstream_gene_variant,,ENST00000596648,;	3338	232	147	SUCCESS
NLRP5	126206	.	GRCh37	19	56565058	56565058	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	131	0	ENST00000390649.3:c.3183C>A	p.Ile1061=	p.I1061=	ENST00000390649	NM_153447.4	1061	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12938.1	3183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATCTCGAG	NONE	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000375063	.	13/15	.	.	.	.	.	.	.	.	COSM1326147	13/15	PASS	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,synonymous_variant,p.%3D,ENST00000390649,;	3183	131	85	SUCCESS
MED16	10025	.	GRCh37	19	890977	890977	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1183598721	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	75	0	ENST00000325464.1:c.155G>A	p.Arg52His	p.R52H	ENST00000325464	NM_005481.2	52	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12047.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCGCAGG	NONE	.	.	hmmpanther:PTHR13224:SF6,hmmpanther:PTHR13224,Superfamily_domains:SSF50978	.	.	ENSP00000325612	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000325464	Transcript	.	.	ENSG00000175221	17556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	.	deleterious(0.02)	.	MED16_HUMAN	MED16	HGNC	K7EKX6_HUMAN,B9TX09_HUMAN	.	UPI0000141671	SNV	MED16,missense_variant,p.Arg52His,ENST00000395808,;MED16,missense_variant,p.Arg52His,ENST00000586017,;MED16,missense_variant,p.Arg52His,ENST00000325464,;MED16,missense_variant,p.Arg52His,ENST00000312090,;MED16,missense_variant,p.Arg52His,ENST00000269814,;MED16,missense_variant,p.Arg52His,ENST00000592943,;MED16,missense_variant,p.Arg52His,ENST00000589119,;MED16,downstream_gene_variant,,ENST00000586342,;RNU6-9,upstream_gene_variant,,ENST00000384776,;MED16,intron_variant,,ENST00000606828,;MED16,missense_variant,p.Arg52His,ENST00000592373,;MED16,missense_variant,p.Arg52His,ENST00000606248,;	306	75	47	SUCCESS
C1orf127	148345	.	GRCh37	1	11009710	11009710	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	25	121	0	ENST00000377004.4:c.1261C>T	p.Leu421=	p.L421=	ENST00000377004	NM_001170754.1	421	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS53267.1	1261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGGAGGT	NONE	.	.	.	.	.	ENSP00000366203	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000377004	Transcript	.	.	ENSG00000175262	26730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C1orf127	HGNC	G8JLG8_HUMAN,B7ZLG7_HUMAN	.	UPI0001C0B385	SNV	C1orf127,synonymous_variant,p.%3D,ENST00000377004,;C1orf127,synonymous_variant,p.%3D,ENST00000418570,;C1orf127,synonymous_variant,p.%3D,ENST00000377008,;C1orf127,intron_variant,,ENST00000520253,;C1orf127,upstream_gene_variant,,ENST00000468348,;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,;	1261	121	120	SUCCESS
IGSF3	3321	.	GRCh37	1	117156433	117156433	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1319760707	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	28	163	0	ENST00000369486.3:c.786G>T	p.Met262Ile	p.M262I	ENST00000369486	NM_001007237.2	262	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS30814.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTCATAGC	NONE	.	.	hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,Gene3D:2.60.40.10,SMART_domains:SM00409	.	.	ENSP00000358495	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000369483	Transcript	.	.	ENSG00000143061	5950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.24)	.	IGSF3_HUMAN	IGSF3	HGNC	.	.	UPI0000140437	SNV	IGSF3,missense_variant,p.Met262Ile,ENST00000318837,;IGSF3,missense_variant,p.Met262Ile,ENST00000369486,;IGSF3,missense_variant,p.Met262Ile,ENST00000369483,;IGSF3,downstream_gene_variant,,ENST00000481589,;	1491	163	114	SUCCESS
HRNR	388697	.	GRCh37	1	152192435	152192435	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	21	223	0	ENST00000368801.2:c.1670G>C	p.Ser557Thr	p.S557T	ENST00000368801	NM_001009931.2	557	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS30859.1	1670	MUTECT|MUSE|VARSCANS	.	CATAGCTGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	COSM1498458	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	unknown(0)	.	.	1	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Ser557Thr,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	1746	223	246	SUCCESS
FCRL5	83416	.	GRCh37	1	157497528	157497528	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	125	208	0	ENST00000361835.3:c.1839C>T	p.Pro613=	p.P613=	ENST00000361835	NM_001195388.1	613	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1165.1	1839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGGGGGC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835,Low_complexity_(Seg):seg	.	.	ENSP00000354691	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,synonymous_variant,p.%3D,ENST00000361835,;FCRL5,synonymous_variant,p.%3D,ENST00000368190,;FCRL5,synonymous_variant,p.%3D,ENST00000356953,;FCRL5,synonymous_variant,p.%3D,ENST00000368191,;FCRL5,downstream_gene_variant,,ENST00000368189,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	1997	208	194	SUCCESS
CFH	3075	.	GRCh37	1	196715034	196715034	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	491	82	506	0	ENST00000367429.4:c.3398C>A	p.Ser1133Ter	p.S1133*	ENST00000367429	NM_000186.3	1133	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS1385.1	3398	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCAGTTG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356399	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000367429	Transcript	.	.	ENSG00000000971	4883	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	SNV	CFH,stop_gained,p.Ser1133Ter,ENST00000367429,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;CFH,downstream_gene_variant,,ENST00000470918,;	3638	507	573	SUCCESS
MORN1	79906	.	GRCh37	1	2288951	2288951	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	30	239	0	ENST00000378531.3:c.956A>G	p.Asp319Gly	p.D319G	ENST00000378531	NM_024848.1	319	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS40.1	956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGTCGGCT	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF123	.	.	ENSP00000367792	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000378531	Transcript	.	.	ENSG00000116151	25852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious(0.02)	.	MORN1_HUMAN	MORN1	HGNC	.	.	UPI000007293C	SNV	MORN1,missense_variant,p.Asp319Gly,ENST00000378531,;MORN1,missense_variant,p.Asp319Gly,ENST00000378529,;MORN1,non_coding_transcript_exon_variant,,ENST00000606372,;RP4-740C4.6,upstream_gene_variant,,ENST00000602865,;MORN1,downstream_gene_variant,,ENST00000607342,;	1130	239	147	SUCCESS
RYR2	6262	.	GRCh37	1	237666628	237666628	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	29	168	0	ENST00000366574.2:c.2436A>T	p.Lys812Asn	p.K812N	ENST00000366574	NM_001035.2	812	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS55691.1	2436	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAATTTCT	NONE	.	.	Prints_domain:PR00795,Superfamily_domains:SSF49899,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	22/105	.	.	.	.	.	.	.	.	.	22/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.852)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Lys796Asn,ENST00000542537,;RYR2,missense_variant,p.Lys812Asn,ENST00000366574,;RYR2,missense_variant,p.Lys810Asn,ENST00000360064,;	2753	168	183	SUCCESS
ARID1A	8289	.	GRCh37	1	27094372	27094372	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751646404	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	54	316	0	ENST00000324856.7:c.3080A>G	p.Tyr1027Cys	p.Y1027C	ENST00000324856	NM_006015.4	1027	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS285.1	3080	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTATCTGG	NONE	.	.	PROSITE_profiles:PS51011,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF01388,Gene3D:1.10.150.60,SMART_domains:SM01014,SMART_domains:SM00501,Superfamily_domains:SSF46774	.	.	ENSP00000320485	.	11/20	.	.	.	.	.	.	.	.	rs751646404	11/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Tyr1027Cys,ENST00000457599,;ARID1A,missense_variant,p.Tyr644Cys,ENST00000374152,;ARID1A,missense_variant,p.Tyr1027Cys,ENST00000324856,;ARID1A,upstream_gene_variant,,ENST00000430799,;RN7SL501P,downstream_gene_variant,,ENST00000578818,;ARID1A,non_coding_transcript_exon_variant,,ENST00000430291,;	3451	316	198	SUCCESS
LHX8	431707	.	GRCh37	1	75602350	75602350	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	141	0	ENST00000294638.5:c.81C>T	p.Arg27=	p.R27=	ENST00000294638	NM_001001933.1	27	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30756.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGCAAAGG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF9	.	.	ENSP00000294638	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,synonymous_variant,p.%3D,ENST00000356261,;LHX8,synonymous_variant,p.%3D,ENST00000294638,;RP11-510C10.2,upstream_gene_variant,,ENST00000446238,;RP11-510C10.3,upstream_gene_variant,,ENST00000427892,;LHX8,upstream_gene_variant,,ENST00000559413,;	745	141	74	SUCCESS
MCOLN2	255231	.	GRCh37	1	85431253	85431253	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	20	168	0	ENST00000370608.3:c.216G>C	p.Lys72Asn	p.K72N	ENST00000370608	NM_153259.2	72	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS30762.1	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATCTTCAA	NONE	.	.	hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF4	.	.	ENSP00000359640	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000370608	Transcript	.	.	ENSG00000153898	13357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MCLN2_HUMAN	MCOLN2	HGNC	G5EA24_HUMAN	.	UPI00001D7674	SNV	MCOLN2,missense_variant,p.Lys72Asn,ENST00000370608,;MCOLN2,missense_variant,p.Lys44Asn,ENST00000284027,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531874,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531325,;MCOLN2,missense_variant,p.Lys72Asn,ENST00000463065,;	284	168	115	SUCCESS
DNTTIP2	30836	.	GRCh37	1	94342288	94342288	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	373	124	791	0	ENST00000436063.2:c.1203A>G	p.Glu401=	p.E401=	ENST00000436063	NM_014597.4	401	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS44174.1	1203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTTCTTC	NONE	.	.	hmmpanther:PTHR21686:SF12,hmmpanther:PTHR21686	.	.	ENSP00000411010	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000436063	Transcript	.	.	ENSG00000067334	24013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TDIF2_HUMAN	DNTTIP2	HGNC	.	.	UPI000006F063	SNV	DNTTIP2,synonymous_variant,p.%3D,ENST00000436063,;DNTTIP2,downstream_gene_variant,,ENST00000528680,;DNTTIP2,non_coding_transcript_exon_variant,,ENST00000460191,;DNTTIP2,downstream_gene_variant,,ENST00000496672,;DNTTIP2,upstream_gene_variant,,ENST00000496535,;DNTTIP2,synonymous_variant,p.%3D,ENST00000359208,;	1261	791	498	SUCCESS
DZANK1	55184	.	GRCh37	20	18407716	18407716	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1600947721	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	87	0	ENST00000262547.5:c.949C>T	p.Gln317Ter	p.Q317*	ENST00000262547	NM_001099407.1	317	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS46582.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTGTGATG	NONE	.	.	hmmpanther:PTHR16058:SF4,hmmpanther:PTHR16058	.	.	ENSP00000262547	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000262547	Transcript	.	.	ENSG00000089091	15858	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZAN1_HUMAN	DZANK1	HGNC	.	.	UPI0000E064B4	SNV	DZANK1,stop_gained,p.Gln317Ter,ENST00000358866,;DZANK1,stop_gained,p.Gln203Ter,ENST00000357236,;DZANK1,stop_gained,p.Gln319Ter,ENST00000329494,;DZANK1,stop_gained,p.Gln317Ter,ENST00000262547,;DZANK1,non_coding_transcript_exon_variant,,ENST00000470526,;DZANK1,non_coding_transcript_exon_variant,,ENST00000487128,;DZANK1,non_coding_transcript_exon_variant,,ENST00000460891,;DZANK1,stop_gained,p.Gln317Ter,ENST00000609267,;DZANK1,3_prime_UTR_variant,,ENST00000377630,;DZANK1,3_prime_UTR_variant,,ENST00000608192,;	1158	87	67	SUCCESS
SIRPA	140885	.	GRCh37	20	1876147	1876147	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	38	0	ENST00000356025.3:c.54G>T	p.Leu18=	p.L18=	ENST00000356025	NM_080792.2	18	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13022.1	54	MUSE|VARSCANS	.	CTGCTGCTCGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF4	.	.	ENSP00000351621	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000358771	Transcript	.	.	ENSG00000198053	9662	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SHPS1_HUMAN	SIRPA	HGNC	B4DP97_HUMAN	.	UPI0000073ADE	SNV	SIRPA,synonymous_variant,p.%3D,ENST00000356025,;SIRPA,synonymous_variant,p.%3D,ENST00000400068,;SIRPA,synonymous_variant,p.%3D,ENST00000358771,;	206	38	35	SUCCESS
NAPB	63908	.	GRCh37	20	23402050	23402050	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs760904693	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	76	0	ENST00000377026.4:c.-11C>T		p.*4*	ENST00000377026	NM_022080.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13152.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCGGCC	NONE	.	.	.	.	.	ENSP00000366225	.	1/11	.	.	.	.	.	.	.	.	rs760904693	1/11	PASS	ENST00000377026	Transcript	.	.	ENSG00000125814	15751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNAB_HUMAN	NAPB	HGNC	B4DGP9_HUMAN	.	UPI0000004164	SNV	NAPB,5_prime_UTR_variant,,ENST00000377026,;NAPB,5_prime_UTR_variant,,ENST00000398425,;NAPB,5_prime_UTR_variant,,ENST00000432543,;NAPB,non_coding_transcript_exon_variant,,ENST00000468128,;NAPB,non_coding_transcript_exon_variant,,ENST00000487502,;NAPB,non_coding_transcript_exon_variant,,ENST00000472855,;	76	76	45	SUCCESS
TMC2	117532	.	GRCh37	20	2593953	2593953	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	56	453	0	ENST00000358864.1:c.1857C>G	p.Asp619Glu	p.D619E	ENST00000358864	NM_080751.2	619	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS13029.2	1857	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACTTGGA	NONE	.	.	Pfam_domain:PF07810,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17	.	.	ENSP00000351732	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000358864	Transcript	.	.	ENSG00000149488	16527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	TMC2_HUMAN	TMC2	HGNC	.	.	UPI0000246C98	SNV	TMC2,missense_variant,p.Asp619Glu,ENST00000358864,;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	1872	453	265	SUCCESS
EPPIN-WFDC6	100526773	.	GRCh37	20	44168108	44168108	+	intron_variant	Intron	SNP	A	A	T	rs561467367	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	22	0	ENST00000504988.1:c.392-1375T>A		p.*131*	ENST00000504988	NM_001198986.1			0	.	G:0.0008	.	G:0	.	T	.	protein_coding	YES	CCDS13358.1	.	MUTECT|MUSE	.	CTCCTACATCT	NONE	by1000G	.	.	G:0	.	ENSP00000361755	G:0	1/3	.	.	.	.	.	.	.	.	rs561467367	1/3	PASS	ENST00000372670	Transcript	.	G:0.0002	ENSG00000243543	16164	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	WFDC6_HUMAN	WFDC6	HGNC	.	.	UPI0000071678	SNV	WFDC6,5_prime_UTR_variant,,ENST00000600168,;WFDC6,5_prime_UTR_variant,,ENST00000372670,;EPPIN-WFDC6,intron_variant,,ENST00000504988,;EPPIN,intron_variant,,ENST00000555685,;EPPIN,downstream_gene_variant,,ENST00000336443,;EPPIN,downstream_gene_variant,,ENST00000354280,;EPPIN,downstream_gene_variant,,ENST00000409554,;WFDC6,upstream_gene_variant,,ENST00000372665,;EPPIN,downstream_gene_variant,,ENST00000496898,;HSPD1P21,downstream_gene_variant,,ENST00000436541,;RP3-461P17.6,upstream_gene_variant,,ENST00000437445,;	27	22	14	SUCCESS
HORMAD2	150280	.	GRCh37	22	30517682	30517682	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1190774303	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	53	279	0	ENST00000336726.6:c.472G>T	p.Val158Phe	p.V158F	ENST00000336726	NM_152510.2	158	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS46683.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGTTCTA	NONE	.	.	PROSITE_profiles:PS50815,hmmpanther:PTHR21518:SF5,hmmpanther:PTHR21518,Pfam_domain:PF02301,Gene3D:1go4B00,Superfamily_domains:0040144	.	.	ENSP00000336984	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000336726	Transcript	.	.	ENSG00000176635	28383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.01)	.	HORM2_HUMAN	HORMAD2	HGNC	.	.	UPI000006EB31	SNV	HORMAD2,missense_variant,p.Val158Phe,ENST00000403975,;HORMAD2,missense_variant,p.Val158Phe,ENST00000336726,;HORMAD2,3_prime_UTR_variant,,ENST00000450612,;	827	279	203	SUCCESS
IL1R1	3554	.	GRCh37	2	102791973	102791973	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	426	191	907	1	ENST00000410023.1:c.1171T>C	p.Tyr391His	p.Y391H	ENST00000410023		391	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS2055.1	1171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGTATCCA	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF19,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537	.	.	ENSP00000386380	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000410023	Transcript	.	.	ENSG00000115594	5993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	IL1R1_HUMAN	IL1R1	HGNC	C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN	.	UPI0000034759	SNV	IL1R1,missense_variant,p.Tyr391His,ENST00000409288,;IL1R1,missense_variant,p.Tyr391His,ENST00000424272,;IL1R1,missense_variant,p.Tyr391His,ENST00000409329,;IL1R1,missense_variant,p.Tyr391His,ENST00000233946,;IL1R1,missense_variant,p.Tyr391His,ENST00000410023,;IL1R1,missense_variant,p.Tyr247His,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,intron_variant,,ENST00000409929,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	1489	908	618	SUCCESS
NPHP1	4867	.	GRCh37	2	110926056	110926056	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	111	0	ENST00000393272.3:c.597A>G	p.Glu199=	p.E199=	ENST00000393272	NM_207181.2	199	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS2086.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTTCATT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR15176:SF1,hmmpanther:PTHR15176,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000313169	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000316534	Transcript	.	.	ENSG00000144061	7905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHP1_HUMAN	NPHP1	HGNC	.	.	UPI0000358960	SNV	NPHP1,synonymous_variant,p.%3D,ENST00000445609,;NPHP1,synonymous_variant,p.%3D,ENST00000355301,;NPHP1,synonymous_variant,p.%3D,ENST00000316534,;NPHP1,synonymous_variant,p.%3D,ENST00000417665,;NPHP1,synonymous_variant,p.%3D,ENST00000393272,;NPHP1,non_coding_transcript_exon_variant,,ENST00000496524,;NPHP1,non_coding_transcript_exon_variant,,ENST00000461707,;	671	111	55	SUCCESS
BAZ2B	29994	.	GRCh37	2	160242972	160242972	+	synonymous_variant	Silent	SNP	A	A	C	rs532285305	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	28	230	0	ENST00000392783.2:c.3363T>G	p.Leu1121=	p.L1121=	ENST00000392783	NM_013450.2	1121	ctT/ctG	0	.	T:0	.	T:0	.	C	L	protein_coding	YES	CCDS2209.2	3363	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGAAGAAC	NONE	by1000G	.	SMART_domains:SM00571,Pfam_domain:PF02791,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,PROSITE_profiles:PS50827	T:0	.	ENSP00000376534	T:0.001	22/37	.	.	.	.	.	.	.	.	rs532285305	22/37	PASS	ENST00000392783	Transcript	.	T:0.0002	ENSG00000123636	963	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,synonymous_variant,p.%3D,ENST00000294905,;BAZ2B,synonymous_variant,p.%3D,ENST00000343439,;BAZ2B,synonymous_variant,p.%3D,ENST00000392782,;BAZ2B,synonymous_variant,p.%3D,ENST00000355831,;BAZ2B,synonymous_variant,p.%3D,ENST00000392783,;AC008277.1,non_coding_transcript_exon_variant,,ENST00000420020,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000551504,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000485917,;	3859	230	143	SUCCESS
LRP2	4036	.	GRCh37	2	170136002	170136002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	39	190	0	ENST00000263816.3:c.1445A>G	p.Tyr482Cys	p.Y482C	ENST00000263816	NM_004525.2	482	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS2232.1	1445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGATAGATT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	12/79	.	.	.	.	.	.	.	.	.	12/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Tyr482Cys,ENST00000263816,;LRP2,missense_variant,p.Tyr482Cys,ENST00000443831,;LRP2,upstream_gene_variant,,ENST00000493501,;	1731	190	129	SUCCESS
SCRN3	79634	.	GRCh37	2	175269041	175269041	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	107	0	ENST00000272732.6:c.752A>C	p.Lys251Thr	p.K251T	ENST00000272732	NM_024583.4	251	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS2258.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAAAGGTA	NONE	.	.	hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF18,Pfam_domain:PF03577	.	.	ENSP00000272732	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000272732	Transcript	.	.	ENSG00000144306	30382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	SCRN3_HUMAN	SCRN3	HGNC	H9KVC8_HUMAN,F8W0M9_HUMAN,C9JNS3_HUMAN,C9JID8_HUMAN	.	UPI00002090F8	SNV	SCRN3,missense_variant,p.Lys244Thr,ENST00000409673,;SCRN3,missense_variant,p.Lys251Thr,ENST00000272732,;SCRN3,downstream_gene_variant,,ENST00000548031,;SCRN3,downstream_gene_variant,,ENST00000458563,;SCRN3,downstream_gene_variant,,ENST00000427038,;SCRN3,downstream_gene_variant,,ENST00000424069,;SCRN3,splice_region_variant,,ENST00000490927,;SCRN3,splice_region_variant,,ENST00000548868,;SCRN3,splice_region_variant,,ENST00000437944,;	834	107	72	SUCCESS
TTN	7273	.	GRCh37	2	179396537	179396537	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	37	228	0	ENST00000591111.1:c.99882T>C	p.Pro33294=	p.P33294=	ENST00000591111		33294	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS59435.1	104805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAAGGCTG	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	358/363	.	.	.	.	.	.	.	.	.	358/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,downstream_gene_variant,,ENST00000592161,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000587576,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;	105030	228	124	SUCCESS
TTN	7273	.	GRCh37	2	179458397	179458397	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772132591	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	53	248	0	ENST00000591111.1:c.53707C>A	p.Leu17903Ile	p.L17903I	ENST00000591111		17903	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS59435.1	58630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGTTTAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	298/363	.	.	.	.	.	.	.	.	rs772132591	298/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu10604Ile,ENST00000359218,;TTN,missense_variant,p.Leu17903Ile,ENST00000591111,;TTN,missense_variant,p.Leu19544Ile,ENST00000589042,;TTN,missense_variant,p.Leu10671Ile,ENST00000342175,;TTN,missense_variant,p.Leu16976Ile,ENST00000342992,;TTN,missense_variant,p.Leu10479Ile,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589830,;	58855	248	177	SUCCESS
CYP27A1	1593	.	GRCh37	2	219674345	219674345	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	71	0	ENST00000258415.4:c.301G>A	p.Gly101Arg	p.G101R	ENST00000258415	NM_000784.3	101	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS2423.1	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTAGGGCCT	NONE	.	.	hmmpanther:PTHR24291:SF6,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000258415	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000258415	Transcript	.	.	ENSG00000135929	2605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.02)	.	CP27A_HUMAN	CYP27A1	HGNC	C9J1K5_HUMAN	.	UPI00001281BD	SNV	CYP27A1,missense_variant,p.Gly7Arg,ENST00000411688,;CYP27A1,missense_variant,p.Gly101Arg,ENST00000258415,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000494263,;CYP27A1,intron_variant,,ENST00000466602,;CYP27A1,intron_variant,,ENST00000445971,;	728	71	69	SUCCESS
D2HGDH	728294	.	GRCh37	2	242695207	242695207	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	29	0	ENST00000321264.4:c.1141-57T>C		p.*381*	ENST00000321264	NM_152783.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33426.1	.	MUTECT|MUSE	.	CCCCCTGTCCC	NONE	.	.	.	.	.	ENSP00000315351	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321264	Transcript	.	.	ENSG00000180902	28358	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	D2HDH_HUMAN	D2HGDH	HGNC	B5MCV2_HUMAN,B3KP72_HUMAN	.	UPI0000456F51	SNV	D2HGDH,intron_variant,,ENST00000445308,;D2HGDH,intron_variant,,ENST00000321264,;D2HGDH,intron_variant,,ENST00000403782,;D2HGDH,intron_variant,,ENST00000432449,;D2HGDH,downstream_gene_variant,,ENST00000454048,;AC114730.7,upstream_gene_variant,,ENST00000417267,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000486953,;D2HGDH,downstream_gene_variant,,ENST00000467427,;D2HGDH,downstream_gene_variant,,ENST00000496252,;D2HGDH,3_prime_UTR_variant,,ENST00000436747,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000468064,;D2HGDH,intron_variant,,ENST00000473126,;D2HGDH,intron_variant,,ENST00000400769,;D2HGDH,intron_variant,,ENST00000470343,;	.	29	26	SUCCESS
PSME4	23198	.	GRCh37	2	54101524	54101524	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	47	239	1	ENST00000404125.1:c.5052A>G	p.Lys1684=	p.K1684=	ENST00000404125	NM_014614.2	1684	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS33197.2	5052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCTTTAAC	NONE	.	.	hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384211	.	43/47	.	.	.	.	.	.	.	.	.	43/47	PASS	ENST00000404125	Transcript	.	.	ENSG00000068878	20635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSME4_HUMAN	PSME4	HGNC	.	.	UPI0000F3BE4A	SNV	PSME4,synonymous_variant,p.%3D,ENST00000421748,;PSME4,synonymous_variant,p.%3D,ENST00000404125,;PSME4,non_coding_transcript_exon_variant,,ENST00000466539,;PSME4,intron_variant,,ENST00000476586,;PSME4,3_prime_UTR_variant,,ENST00000389993,;PSME4,upstream_gene_variant,,ENST00000488687,;	5108	240	168	SUCCESS
C2orf74	339804	.	GRCh37	2	61390252	61390252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	150	0	ENST00000432605.1:c.296G>A	p.Ser99Asn	p.S99N	ENST00000432605	NM_001143959.1	99	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	.	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGTAAGG	NONE	.	.	Pfam_domain:PF15484	.	.	ENSP00000402915	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000432605	Transcript	.	.	ENSG00000237651	34439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	tolerated(0.42)	.	CB074_HUMAN	C2orf74	HGNC	C9JBF1_HUMAN	.	UPI00018E24F1	SNV	C2orf74,missense_variant,p.Ser99Asn,ENST00000432605,;C2orf74,missense_variant,p.Ser20Asn,ENST00000426997,;RP11-493E12.1,upstream_gene_variant,,ENST00000605902,;RP11-493E12.1,upstream_gene_variant,,ENST00000607743,;RP11-493E12.1,upstream_gene_variant,,ENST00000606876,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000464909,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000489686,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000488469,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000462959,;KIAA1841,3_prime_UTR_variant,,ENST00000398622,;	296	151	86	SUCCESS
LOXL3	84695	.	GRCh37	2	74761507	74761507	+	synonymous_variant	Silent	SNP	A	A	G	rs751033818	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	56	401	0	ENST00000264094.3:c.1875T>C	p.Asn625=	p.N625=	ENST00000264094	NM_032603.2	625	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS1953.1	1875	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCATTTGG	NONE	.	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF11,Pfam_domain:PF01186,Prints_domain:PR00074	.	.	ENSP00000264094	.	11/14	.	.	.	.	.	.	.	.	rs751033818	11/14	PASS	ENST00000264094	Transcript	.	.	ENSG00000115318	13869	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LOXL3_HUMAN	LOXL3	HGNC	Q8N505_HUMAN,Q53TY1_HUMAN,Q2EHP2_HUMAN,C9J5M1_HUMAN	.	UPI0000044959	SNV	LOXL3,synonymous_variant,p.%3D,ENST00000409986,;LOXL3,synonymous_variant,p.%3D,ENST00000264094,;LOXL3,synonymous_variant,p.%3D,ENST00000409549,;LOXL3,synonymous_variant,p.%3D,ENST00000393937,;LOXL3,intron_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000413469,;LOXL3,downstream_gene_variant,,ENST00000420535,;HTRA2,downstream_gene_variant,,ENST00000352222,;HTRA2,downstream_gene_variant,,ENST00000258080,;HTRA2,downstream_gene_variant,,ENST00000437202,;AUP1,upstream_gene_variant,,ENST00000377526,;HTRA2,downstream_gene_variant,,ENST00000462909,;HTRA2,downstream_gene_variant,,ENST00000484881,;HTRA2,downstream_gene_variant,,ENST00000467961,;LOXL3,downstream_gene_variant,,ENST00000481835,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000463900,;HTRA2,downstream_gene_variant,,ENST00000484352,;HTRA2,downstream_gene_variant,,ENST00000465521,;HTRA2,downstream_gene_variant,,ENST00000482205,;HTRA2,downstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000472800,;	1947	401	253	SUCCESS
DUSP2	1844	.	GRCh37	2	96809608	96809608	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	41	223	0	ENST00000288943.4:c.899T>G	p.Phe300Cys	p.F300C	ENST00000288943	NM_004418.3	300	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS2016.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGAAACTG	NONE	.	.	PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF109,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,SMART_domains:SM00404,PIRSF_domain:PIRSF000939,Superfamily_domains:SSF52799	.	.	ENSP00000288943	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000288943	Transcript	.	.	ENSG00000158050	3068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DUS2_HUMAN	DUSP2	HGNC	.	.	UPI000012995D	SNV	DUSP2,missense_variant,p.Phe300Cys,ENST00000288943,;AC012307.2,downstream_gene_variant,,ENST00000449242,;DUSP2,non_coding_transcript_exon_variant,,ENST00000488952,;	985	224	158	SUCCESS
SLC2A2	6514	.	GRCh37	3	170732421	170732421	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	304	116	670	0	ENST00000314251.3:c.208A>C	p.Ile70Leu	p.I70L	ENST00000314251	NM_001278659.1	70	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS3215.1	208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGATTGTGG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879	.	.	ENSP00000323568	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.83)	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,missense_variant,p.Ile70Leu,ENST00000314251,;SLC2A2,intron_variant,,ENST00000461867,;SLC2A2,intron_variant,,ENST00000382808,;SLC2A2,missense_variant,p.Ile70Leu,ENST00000497642,;SLC2A2,intron_variant,,ENST00000469787,;	288	670	421	SUCCESS
DGKG	1608	.	GRCh37	3	185970912	185970912	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	93	0	ENST00000265022.3:c.1570G>A	p.Asp524Asn	p.D524N	ENST00000265022	NM_001080744.1	524	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3274.1	1570	MUTECT|MUSE|VARSCANS	.	AAGGTCATTTC	NONE	.	.	PROSITE_profiles:PS50146,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,Pfam_domain:PF00781,SMART_domains:SM00046,Superfamily_domains:SSF111331	.	.	ENSP00000265022	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000265022	Transcript	.	.	ENSG00000058866	2853	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,missense_variant,p.Asp465Asn,ENST00000544847,;DGKG,missense_variant,p.Asp485Asn,ENST00000382164,;DGKG,missense_variant,p.Asp524Asn,ENST00000265022,;DGKG,missense_variant,p.Asp499Asn,ENST00000344484,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,downstream_gene_variant,,ENST00000480933,;	2110	93	52	SUCCESS
GUCY1A3	0	.	GRCh37	4	156631936	156631936	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	128	0	ENST00000296518.7:c.619C>T	p.Pro207Ser	p.P207S	ENST00000296518		207	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS34085.1	619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCCTAAG	NONE	.	.	hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920,Pfam_domain:PF07700,Superfamily_domains:SSF111126	.	.	ENSP00000296518	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000296518	Transcript	1	.	ENSG00000164116	4685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	GCYA3_HUMAN	GUCY1A3	HGNC	Q9NNW8_HUMAN,J3KPQ8_HUMAN	.	UPI0000033343	SNV	GUCY1A3,missense_variant,p.Pro207Ser,ENST00000506455,;GUCY1A3,missense_variant,p.Pro207Ser,ENST00000455639,;GUCY1A3,missense_variant,p.Pro207Ser,ENST00000513574,;GUCY1A3,missense_variant,p.Pro207Ser,ENST00000296518,;GUCY1A3,missense_variant,p.Pro207Ser,ENST00000511507,;GUCY1A3,missense_variant,p.Pro207Ser,ENST00000511108,;GUCY1A3,5_prime_UTR_variant,,ENST00000393832,;GUCY1A3,downstream_gene_variant,,ENST00000515602,;GUCY1A3,3_prime_UTR_variant,,ENST00000443668,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000512983,;GUCY1A3,intron_variant,,ENST00000515201,;GUCY1A3,intron_variant,,ENST00000509901,;	828	128	86	SUCCESS
PCDH7	5099	.	GRCh37	4	30725244	30725244	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	34	234	0	ENST00000361762.2:c.2200G>T	p.Asp734Tyr	p.D734Y	ENST00000361762	NM_002589.2	734	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54753.1	2200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGATGAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Asp424Tyr,ENST00000511884,;PCDH7,missense_variant,p.Asp734Tyr,ENST00000543491,;PCDH7,missense_variant,p.Asp734Tyr,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	2200	234	126	SUCCESS
KLB	152831	.	GRCh37	4	39435941	39435941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	46	293	0	ENST00000257408.4:c.937A>T	p.Thr313Ser	p.T313S	ENST00000257408	NM_175737.3	313	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3451.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACACGATG	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.79)	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,missense_variant,p.Thr313Ser,ENST00000257408,;	1034	293	174	SUCCESS
UGT2A2	574537	.	GRCh37	4	70504997	70504997	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	196	0	ENST00000457664.2:c.362G>A	p.Gly121Glu	p.G121E	ENST00000457664	NM_001105677.2	121	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS56331.1	362	MUTECT|MUSE	.	GTTTTCCTAGT	SITE|p.G121E|c.362G>A|3	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116	.	.	ENSP00000387888	.	1/6	.	.	.	.	.	.	.	.	COSM2829847	1/6	PASS	ENST00000457664	Transcript	.	.	ENSG00000271271	28183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.098)	.	tolerated(0.8)	1	UD2A1_HUMAN	UGT2A2	HGNC	S4R436_HUMAN	.	UPI0001C3E798	SNV	UGT2A2,missense_variant,p.Gly122Glu,ENST00000604021,;UGT2A2,missense_variant,p.Gly121Glu,ENST00000457664,;UGT2A1,missense_variant,p.Gly322Glu,ENST00000514019,;UGT2A2,missense_variant,p.Gly122Glu,ENST00000604629,;UGT2A1,intron_variant,,ENST00000286604,;UGT2A1,intron_variant,,ENST00000512704,;UGT2A1,intron_variant,,ENST00000503640,;	362	196	112	SUCCESS
RAP1GDS1	5910	.	GRCh37	4	99300176	99300176	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	120	0	ENST00000408927.3:c.370A>G	p.Arg124Gly	p.R124G	ENST00000408927	NM_021159.4	124	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS47105.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCAGAAGT	NONE	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR10957:SF2,hmmpanther:PTHR10957,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000340454	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000339360	Transcript	.	.	ENSG00000138698	9859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.628)	.	deleterious(0.02)	.	GDS1_HUMAN	RAP1GDS1	HGNC	.	.	UPI000004A01F	SNV	RAP1GDS1,missense_variant,p.Arg125Gly,ENST00000453712,;RAP1GDS1,missense_variant,p.Arg83Gly,ENST00000508213,;RAP1GDS1,missense_variant,p.Arg124Gly,ENST00000408927,;RAP1GDS1,missense_variant,p.Arg83Gly,ENST00000511212,;RAP1GDS1,missense_variant,p.Arg125Gly,ENST00000339360,;RAP1GDS1,intron_variant,,ENST00000514122,;RAP1GDS1,intron_variant,,ENST00000380158,;RAP1GDS1,intron_variant,,ENST00000408900,;RAP1GDS1,intron_variant,,ENST00000509011,;RAP1GDS1,intron_variant,,ENST00000264572,;RAP1GDS1,upstream_gene_variant,,ENST00000509501,;RAP1GDS1,upstream_gene_variant,,ENST00000514139,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000503745,;RAP1GDS1,intron_variant,,ENST00000512857,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000505378,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000507303,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000511379,;RAP1GDS1,intron_variant,,ENST00000510870,;	421	120	61	SUCCESS
IGIP	492311	.	GRCh37	5	139505673	139505673	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs548935184	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	33	245	0	ENST00000333305.3:c.-2389T>G		p.*797*	ENST00000333305	NM_001007189.1			0	.	C:0	.	C:0.0014	.	G	.	protein_coding	YES	CCDS34244.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTGTACA	NONE	by1000G	.	.	C:0	.	ENSP00000327344	C:0	1/1	.	.	.	.	.	.	.	.	rs548935184	1/1	PASS	ENST00000333305	Transcript	.	C:0.0002	ENSG00000182700	33847	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	IGIP_HUMAN	IGIP	HGNC	.	.	UPI000046D390	SNV	IGIP,5_prime_UTR_variant,,ENST00000333305,;	153	246	205	SUCCESS
FAT2	2196	.	GRCh37	5	150946265	150946265	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1195282978	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	104	0	ENST00000261800.5:c.2228A>T	p.Asp743Val	p.D743V	ENST00000261800	NM_001447.2	743	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS4317.1	2228	MUTECT|MUSE|VARSCANS	.	CAGCATCAGGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Asp743Val,ENST00000261800,;	2241	104	54	SUCCESS
GABRA1	2554	.	GRCh37	5	161292754	161292754	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	9	192	0	ENST00000023897.6:c.215T>A	p.Ile72Asn	p.I72N	ENST00000023897	NM_000806.5	72	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS4357.1	215	MUTECT|MUSE	.	TGATATCTTCG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR01079	.	.	ENSP00000393097	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.42)	.	deleterious(0)	.	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Ile72Asn,ENST00000444819,;GABRA1,missense_variant,p.Ile72Asn,ENST00000420560,;GABRA1,missense_variant,p.Ile78Asn,ENST00000521339,;GABRA1,missense_variant,p.Ile72Asn,ENST00000437025,;GABRA1,missense_variant,p.Ile72Asn,ENST00000519621,;GABRA1,missense_variant,p.Ile72Asn,ENST00000428797,;GABRA1,missense_variant,p.Ile72Asn,ENST00000393943,;GABRA1,missense_variant,p.Ile72Asn,ENST00000023897,;GABRA1,missense_variant,p.Ile72Asn,ENST00000522651,;	570	192	187	SUCCESS
DOCK2	1794	.	GRCh37	5	169508908	169508908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	113	0	ENST00000256935.8:c.5350A>G	p.Ser1784Gly	p.S1784G	ENST00000256935	NM_004946.2	1784	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS4371.1	5350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGCCAG	NONE	.	.	.	.	.	ENSP00000256935	.	51/52	.	.	.	.	.	.	.	.	.	51/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious_low_confidence(0.02)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Ser845Gly,ENST00000540750,;DOCK2,missense_variant,p.Ser1784Gly,ENST00000256935,;DOCK2,missense_variant,p.Ser1276Gly,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	5430	113	84	SUCCESS
TBC1D9B	23061	.	GRCh37	5	179298474	179298474	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	144	0	ENST00000356834.3:c.2472C>T	p.Tyr824=	p.Y824=	ENST00000356834	NM_198868.2	824	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS43408.1	2472	RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGTAAAG	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225	.	.	ENSP00000349291	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000356834	Transcript	.	.	ENSG00000197226	29097	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBC9B_HUMAN	TBC1D9B	HGNC	.	.	UPI000034ECFF	SNV	TBC1D9B,synonymous_variant,p.%3D,ENST00000355235,;TBC1D9B,synonymous_variant,p.%3D,ENST00000356834,;TBC1D9B,5_prime_UTR_variant,,ENST00000444477,;TBC1D9B,5_prime_UTR_variant,,ENST00000519746,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522180,;TBC1D9B,upstream_gene_variant,,ENST00000518085,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000521469,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000519757,;TBC1D9B,upstream_gene_variant,,ENST00000522921,;TBC1D9B,downstream_gene_variant,,ENST00000518459,;TBC1D9B,upstream_gene_variant,,ENST00000520794,;TBC1D9B,downstream_gene_variant,,ENST00000521669,;TBC1D9B,upstream_gene_variant,,ENST00000520912,;	2510	144	104	SUCCESS
SDHA	6389	.	GRCh37	5	251503	251503	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	57	338	0	ENST00000264932.6:c.1714A>T	p.Met572Leu	p.M572L	ENST00000264932	NM_004168.2	572	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS3853.1	1714	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGATGCTG	NONE	.	.	hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF37,TIGRFAM_domain:TIGR01816,TIGRFAM_domain:TIGR01812,Pfam_domain:PF02910,Gene3D:1.20.58.100,Superfamily_domains:SSF46977	.	.	ENSP00000264932	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000264932	Transcript	1	.	ENSG00000073578	10680	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated_low_confidence(1)	.	DHSA_HUMAN	SDHA	HGNC	Q0QF12_HUMAN,B3KT34_HUMAN	.	UPI0000000C2C	SNV	SDHA,missense_variant,p.Met572Leu,ENST00000264932,;SDHA,missense_variant,p.Met18Leu,ENST00000509564,;SDHA,missense_variant,p.Met524Leu,ENST00000510361,;SDHA,intron_variant,,ENST00000515815,;SDHA,intron_variant,,ENST00000504309,;SDHA,non_coding_transcript_exon_variant,,ENST00000507522,;SDHA,intron_variant,,ENST00000509082,;SDHA,non_coding_transcript_exon_variant,,ENST00000514027,;SDHA,non_coding_transcript_exon_variant,,ENST00000503674,;SDHA,non_coding_transcript_exon_variant,,ENST00000511810,;SDHA,non_coding_transcript_exon_variant,,ENST00000505555,;SDHA,non_coding_transcript_exon_variant,,ENST00000515752,;SDHA,downstream_gene_variant,,ENST00000507266,;	1829	338	259	SUCCESS
BCLAF1	9774	.	GRCh37	6	136597059	136597059	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	294	10	441	0	ENST00000531224.1:c.1604T>A	p.Ile535Asn	p.I535N	ENST00000531224	NM_001077441.1	535	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS5177.1	1604	MUTECT|MUSE	.	TTTTGATCCTA	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	.	.	ENSP00000435210	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.506)	.	tolerated(0.12)	.	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Ile535Asn,ENST00000529826,;BCLAF1,missense_variant,p.Ile535Asn,ENST00000527536,;BCLAF1,missense_variant,p.Ile533Asn,ENST00000392348,;BCLAF1,missense_variant,p.Ile362Asn,ENST00000530767,;BCLAF1,missense_variant,p.Ile535Asn,ENST00000531224,;BCLAF1,missense_variant,p.Ile533Asn,ENST00000353331,;BCLAF1,missense_variant,p.Ile533Asn,ENST00000527759,;BCLAF1,missense_variant,p.Ser117Thr,ENST00000533621,;BCLAF1,missense_variant,p.Ile535Asn,ENST00000527613,;BCLAF1,missense_variant,p.Ile360Asn,ENST00000534269,;BCLAF1,missense_variant,p.Ile533Asn,ENST00000530429,;BCLAF1,missense_variant,p.Ile535Asn,ENST00000532384,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	1857	442	304	SUCCESS
TXLNB	167838	.	GRCh37	6	139564133	139564133	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	41	246	0	ENST00000358430.3:c.1585A>T	p.Ser529Cys	p.S529C	ENST00000358430	NM_153235.3	529	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS34545.1	1585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTGCCTA	NONE	.	.	hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10	.	.	ENSP00000351206	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000358430	Transcript	.	.	ENSG00000164440	21617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.07)	.	TXLNB_HUMAN	TXLNB	HGNC	H0UI60_HUMAN	.	UPI0000072983	SNV	TXLNB,missense_variant,p.Ser529Cys,ENST00000358430,;RP1-225E12.2,upstream_gene_variant,,ENST00000590219,;RP1-225E12.2,upstream_gene_variant,,ENST00000585447,;RP1-225E12.2,upstream_gene_variant,,ENST00000588529,;RP1-225E12.2,upstream_gene_variant,,ENST00000586229,;RP1-225E12.2,upstream_gene_variant,,ENST00000415194,;RP1-225E12.2,upstream_gene_variant,,ENST00000587814,;RP1-225E12.2,upstream_gene_variant,,ENST00000591102,;RP1-225E12.2,upstream_gene_variant,,ENST00000592557,;RP1-225E12.2,upstream_gene_variant,,ENST00000587333,;RP1-225E12.2,upstream_gene_variant,,ENST00000586266,;RP1-225E12.2,upstream_gene_variant,,ENST00000587577,;RP1-225E12.2,upstream_gene_variant,,ENST00000588638,;RP1-225E12.2,upstream_gene_variant,,ENST00000590679,;RP1-225E12.2,upstream_gene_variant,,ENST00000589192,;RP1-225E12.3,intron_variant,,ENST00000585874,;	1818	246	151	SUCCESS
FAM120B	84498	.	GRCh37	6	170657249	170657249	+	synonymous_variant	Silent	SNP	T	T	A	rs747412214	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	61	0	ENST00000476287.1:c.2028T>A	p.Pro676=	p.P676=	ENST00000476287	NM_032448.1	676	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5314.1	2028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCTAGTTT	NONE	byFrequency	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7	.	.	ENSP00000417970	.	5/11	.	.	.	.	.	.	.	.	rs747412214	5/11	PASS	ENST00000476287	Transcript	.	.	ENSG00000112584	21109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F120B_HUMAN	FAM120B	HGNC	B4DL34_HUMAN	.	UPI000006DC13	SNV	FAM120B,synonymous_variant,p.%3D,ENST00000476287,;FAM120B,synonymous_variant,p.%3D,ENST00000537664,;FAM120B,synonymous_variant,p.%3D,ENST00000252510,;FAM120B,synonymous_variant,p.%3D,ENST00000540480,;	2136	61	41	SUCCESS
BTN3A1	11119	.	GRCh37	6	26413697	26413697	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs753391625	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	106	0	ENST00000289361.6:c.1319A>C	p.Lys440Thr	p.K440T	ENST00000289361	NM_001145009.1	440	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS4608.1	1319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGTATC	BUFFER|p.R442Q|c.1325G>A|4	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF56,PROSITE_profiles:PS50188	.	.	ENSP00000289361	.	10/10	.	.	.	.	.	.	.	.	rs753391625	10/10	PASS	ENST00000289361	Transcript	.	.	ENSG00000026950	1138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.14)	.	BT3A1_HUMAN	BTN3A1	HGNC	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN	.	UPI000013C904	SNV	BTN3A1,missense_variant,p.Lys388Thr,ENST00000414912,;BTN3A1,missense_variant,p.Lys440Thr,ENST00000289361,;BTN3A1,downstream_gene_variant,,ENST00000425234,;BTN3A1,downstream_gene_variant,,ENST00000476549,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;BTN3A1,downstream_gene_variant,,ENST00000502361,;BTN3A1,downstream_gene_variant,,ENST00000513047,;	1687	106	55	SUCCESS
C6orf222	0	.	GRCh37	6	36297976	36297976	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762369495	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	26	396	0	ENST00000437635.2:c.492C>A	p.His164Gln	p.H164Q	ENST00000437635	NM_001010903.4	164	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS34439.1	492	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGTGTTT	NONE	byFrequency	.	hmmpanther:PTHR22435,hmmpanther:PTHR22435:SF0	.	.	ENSP00000418983	.	2/12	.	.	.	.	.	.	.	.	rs762369495	2/12	PASS	ENST00000437635	Transcript	.	.	ENSG00000189325	33769	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.86)	.	tolerated(0.27)	.	CF222_HUMAN	C6orf222	HGNC	.	.	UPI000022CB9B	SNV	C6orf222,missense_variant,p.His164Gln,ENST00000437635,;	670	396	262	SUCCESS
TDRD6	221400	.	GRCh37	6	46657993	46657993	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	53	259	0	ENST00000316081.6:c.2128G>A	p.Ala710Thr	p.A710T	ENST00000316081	NM_001010870.2	710	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34470.1	2128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGCCAAG	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.46)	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,missense_variant,p.Ala710Thr,ENST00000316081,;TDRD6,missense_variant,p.Ala710Thr,ENST00000544460,;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	2128	259	178	SUCCESS
ZNF292	23036	.	GRCh37	6	87955340	87955340	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1374359541	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	42	245	1	ENST00000369577.3:c.998T>C	p.Leu333Pro	p.L333P	ENST00000369577	NM_015021.1	333	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47457.1	998	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGATTA	NONE	.	.	hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	.	.	ENSP00000358590	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000369577	Transcript	.	.	ENSG00000188994	18410	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN292_HUMAN	ZNF292	HGNC	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN	.	UPI000020D2CC	SNV	ZNF292,missense_variant,p.Leu333Pro,ENST00000369577,;ZNF292,missense_variant,p.Leu88Pro,ENST00000466062,;ZNF292,missense_variant,p.Leu328Pro,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000518845,;	1041	246	179	SUCCESS
KLHDC10	23008	.	GRCh37	7	129761948	129761948	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	55	206	0	ENST00000335420.5:c.685A>G	p.Ile229Val	p.I229V	ENST00000335420	NM_014997.3	229	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5815.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATATTTAC	NONE	.	.	hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13418,Superfamily_domains:0052715	.	.	ENSP00000334140	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000335420	Transcript	.	.	ENSG00000128607	22194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.43)	.	KLD10_HUMAN	KLHDC10	HGNC	C9JRX2_HUMAN	.	UPI0000160705	SNV	KLHDC10,missense_variant,p.Ile86Val,ENST00000468226,;KLHDC10,missense_variant,p.Ile229Val,ENST00000335420,;KLHDC10,downstream_gene_variant,,ENST00000463413,;KLHDC10,downstream_gene_variant,,ENST00000495724,;	819	206	162	SUCCESS
HDAC9	9734	.	GRCh37	7	18687567	18687567	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	76	0	ENST00000432645.2:c.1186C>T	p.Leu396=	p.L396=	ENST00000432645	NM_058176.2	396	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47553.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCTGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,synonymous_variant,p.%3D,ENST00000401921,;HDAC9,synonymous_variant,p.%3D,ENST00000405010,;HDAC9,synonymous_variant,p.%3D,ENST00000428307,;HDAC9,synonymous_variant,p.%3D,ENST00000441542,;HDAC9,synonymous_variant,p.%3D,ENST00000417496,;HDAC9,synonymous_variant,p.%3D,ENST00000406072,;HDAC9,synonymous_variant,p.%3D,ENST00000406451,;HDAC9,synonymous_variant,p.%3D,ENST00000456174,;HDAC9,synonymous_variant,p.%3D,ENST00000432645,;HDAC9,synonymous_variant,p.%3D,ENST00000524023,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1195	76	53	SUCCESS
ACN9	0	.	GRCh37	7	96810376	96810376	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	118	606	0	ENST00000432641.2:c.227C>A	p.Thr76Asn	p.T76N	ENST00000432641	NM_020186.2	76	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS5648.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACTGGAA	NONE	.	.	hmmpanther:PTHR13137:SF6,hmmpanther:PTHR13137,Pfam_domain:PF13233	.	.	ENSP00000414066	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000432641	Transcript	.	.	ENSG00000196636	21752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.28)	.	ACN9_HUMAN	ACN9	HGNC	.	.	UPI000007346E	SNV	ACN9,missense_variant,p.Thr76Asn,ENST00000432641,;ACN9,3_prime_UTR_variant,,ENST00000360382,;ACN9,non_coding_transcript_exon_variant,,ENST00000479853,;	1361	606	351	SUCCESS
ADCY8	114	.	GRCh37	8	131861906	131861906	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781040718	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	389	13	405	0	ENST00000286355.5:c.2354G>A	p.Arg785Gln	p.R785Q	ENST00000286355	NM_001115.2	785	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6363.1	2354	MUTECT|MUSE	.	CGTTCCGGGCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	10/18	.	.	.	.	.	.	.	.	rs781040718,COSM1700626	10/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0)	.	deleterious(0)	0,1	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Arg785Gln,ENST00000286355,;ADCY8,intron_variant,,ENST00000377928,;	4447	405	402	SUCCESS
HR	55806	.	GRCh37	8	21986470	21986470	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	72	0	ENST00000381418.4:c.214A>C	p.Met72Leu	p.M72L	ENST00000381418	NM_005144.4	72	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS6022.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCATGTCCT	NONE	.	.	hmmpanther:PTHR12549:SF4,hmmpanther:PTHR12549	.	.	ENSP00000370826	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000381418	Transcript	1	.	ENSG00000168453	5172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.05)	.	HAIR_HUMAN	HR	HGNC	E5RK80_HUMAN	.	UPI000013EB0B	SNV	HR,missense_variant,p.Met72Leu,ENST00000381418,;HR,missense_variant,p.Met72Leu,ENST00000312841,;HR,upstream_gene_variant,,ENST00000519619,;HR,downstream_gene_variant,,ENST00000518377,;HR,non_coding_transcript_exon_variant,,ENST00000522759,;	1695	72	52	SUCCESS
CLDN23	137075	.	GRCh37	8	8560187	8560187	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	18	0	ENST00000519106.1:c.279G>T	p.Leu93=	p.L93=	ENST00000519106	NM_194284.2	93	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55195.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GTCCTGGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF3,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000428780	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000519106	Transcript	.	.	ENSG00000253958	17591	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLD23_HUMAN	CLDN23	HGNC	.	.	UPI00001C1E93	SNV	CLDN23,synonymous_variant,p.%3D,ENST00000519106,;AC087269.1,intron_variant,,ENST00000389800,;	740	18	15	SUCCESS
CYLC2	1539	.	GRCh37	9	105767561	105767561	+	synonymous_variant	Silent	SNP	T	T	C	rs779686121	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	486	170	970	0	ENST00000374798.3:c.648T>C	p.Asp216=	p.D216=	ENST00000374798	NM_001340.3	216	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS35085.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATAGCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742	.	.	ENSP00000420256	.	5/8	.	.	.	.	.	.	.	.	rs779686121	5/8	PASS	ENST00000374798	Transcript	.	.	ENSG00000155833	2583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,synonymous_variant,p.%3D,ENST00000374798,;CYLC2,synonymous_variant,p.%3D,ENST00000487798,;	718	970	656	SUCCESS
ASTN2	23245	.	GRCh37	9	119858432	119858432	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	126	0	ENST00000313400.4:c.1169-2A>T		p.X390_splice	ENST00000313400		390		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6815.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGTGAG	NONE	.	.	.	.	.	ENSP00000354504	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361209	Transcript	.	.	ENSG00000148219	17021	.	.	HIGH	3/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASTN2_HUMAN	ASTN2	HGNC	B7ZKP3_HUMAN,B2RCB6_HUMAN	.	UPI00002116D7	SNV	ASTN2,splice_acceptor_variant,,ENST00000373996,;ASTN2,splice_acceptor_variant,,ENST00000313400,;ASTN2,splice_acceptor_variant,,ENST00000361209,;ASTN2,splice_acceptor_variant,,ENST00000361477,;ASTN2,splice_acceptor_variant,,ENST00000373986,;AL354981.1,upstream_gene_variant,,ENST00000583553,;	.	126	74	SUCCESS
GLIS3	169792	.	GRCh37	9	4118024	4118024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	40	0	ENST00000324333.10:c.989C>T	p.Ala330Val	p.A330V	ENST00000324333	NM_152629.3	330	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43784.1	1454	RADIA|VARSCANS	.	GGGTGGCCTGG	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF71	.	.	ENSP00000371398	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000381971	Transcript	.	.	ENSG00000107249	28510	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.116)	.	tolerated(0.26)	.	GLIS3_HUMAN	GLIS3	HGNC	Q1PHK4_HUMAN,Q1PHJ8_HUMAN,Q1PHJ7_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN	.	UPI0000DA4C5E	SNV	GLIS3,missense_variant,p.Ala330Val,ENST00000324333,;GLIS3,missense_variant,p.Ala485Val,ENST00000381971,;GLIS3,downstream_gene_variant,,ENST00000478315,;GLIS3,downstream_gene_variant,,ENST00000478844,;GLIS3,downstream_gene_variant,,ENST00000477901,;GLIS3,downstream_gene_variant,,ENST00000481827,;GLIS3,downstream_gene_variant,,ENST00000462164,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,downstream_gene_variant,,ENST00000490709,;GLIS3,downstream_gene_variant,,ENST00000491889,;GLIS3,upstream_gene_variant,,ENST00000467497,;	2048	40	27	SUCCESS
KLHL13	90293	.	GRCh37	X	117053530	117053536	+	frameshift_variant	Frame_Shift_Del	DEL	TGTAGGA	TGTAGGA	-	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	TGTAGGA	TGTAGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	70	91	303	0	ENST00000262820.3:c.518_524del	p.Phe173Ter	p.F173*	ENST00000262820	NM_033495.3	173	tTCCTACAg/tg	0	.	.	.	.	.	-	FLQ/X	protein_coding	YES	CCDS55480.1	527-533	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAATCTGTAGGAAACTG	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412:SF68,hmmpanther:PTHR24412	.	.	ENSP00000443191	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000539496	Transcript	.	.	ENSG00000003096	22931	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLH13_HUMAN	KLHL13	HGNC	Q96HC9_HUMAN,C9JTS9_HUMAN	.	UPI0001914B0F	deletion	KLHL13,frameshift_variant,p.Phe157Ter,ENST00000540167,;KLHL13,frameshift_variant,p.Phe122Ter,ENST00000469946,;KLHL13,frameshift_variant,p.Phe122Ter,ENST00000371876,;KLHL13,frameshift_variant,p.Phe176Ter,ENST00000539496,;KLHL13,frameshift_variant,p.Phe122Ter,ENST00000371878,;KLHL13,frameshift_variant,p.Phe131Ter,ENST00000545703,;KLHL13,frameshift_variant,p.Phe122Ter,ENST00000371882,;KLHL13,frameshift_variant,p.Phe157Ter,ENST00000541812,;KLHL13,frameshift_variant,p.Phe122Ter,ENST00000447671,;KLHL13,frameshift_variant,p.Phe173Ter,ENST00000262820,;KLHL13,downstream_gene_variant,,ENST00000453826,;	527-533	303	161	SUCCESS
PLAC1	10761	.	GRCh37	X	133700150	133700150	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	78	86	0	ENST00000359237.4:c.563C>T	p.Pro188Leu	p.P188L	ENST00000359237	NM_021796.3	188	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14642.1	563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGTTGA	NONE	.	.	hmmpanther:PTHR14380:SF2,hmmpanther:PTHR14380	.	.	ENSP00000352173	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000359237	Transcript	.	.	ENSG00000170965	9044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.31)	.	PLAC1_HUMAN	PLAC1	HGNC	.	.	UPI0000070F9F	SNV	PLAC1,missense_variant,p.Pro188Leu,ENST00000359237,;PLAC1,non_coding_transcript_exon_variant,,ENST00000476971,;PLAC1,downstream_gene_variant,,ENST00000473897,;	849	86	114	SUCCESS
XPNPEP1	7511	.	GRCh37	10	111642310	111642310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	41	0	ENST00000502935.1:c.921G>T	p.Gln307His	p.Q307H	ENST00000502935		307	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS7560.2	921	RADIA|VARSCANS	.	TGCACCTGGAT	NONE	.	.	hmmpanther:PTHR10804:SF87,hmmpanther:PTHR10804,Gene3D:3.40.350.10	.	.	ENSP00000421566	.	10/21	.	.	.	.	.	.	.	.	.	10/21	oxog	ENST00000502935	Transcript	.	.	ENSG00000108039	12822	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.08)	.	XPP1_HUMAN	XPNPEP1	HGNC	Q68EA4_HUMAN,Q5T6H7_HUMAN,Q5T6H2_HUMAN,B4E2P4_HUMAN,B4DIS4_HUMAN	.	UPI00003D2EAD	SNV	XPNPEP1,missense_variant,p.Gln307His,ENST00000322238,;XPNPEP1,missense_variant,p.Gln307His,ENST00000502935,;XPNPEP1,missense_variant,p.Gln264His,ENST00000403138,;XPNPEP1,missense_variant,p.Gln232His,ENST00000423625,;XPNPEP1,missense_variant,p.Gln193His,ENST00000369683,;XPNPEP1,missense_variant,p.Gln264His,ENST00000369680,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000509646,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000460055,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000507328,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000460523,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000512582,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000494564,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000430337,;XPNPEP1,downstream_gene_variant,,ENST00000490740,;XPNPEP1,upstream_gene_variant,,ENST00000510988,;XPNPEP1,downstream_gene_variant,,ENST00000508059,;XPNPEP1,downstream_gene_variant,,ENST00000505255,;XPNPEP1,downstream_gene_variant,,ENST00000506777,;XPNPEP1,downstream_gene_variant,,ENST00000451592,;XPNPEP1,downstream_gene_variant,,ENST00000443078,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000488118,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000472336,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000513817,;XPNPEP1,upstream_gene_variant,,ENST00000508525,;	1041	41	39	SUCCESS
GPAM	57678	.	GRCh37	10	113928263	113928263	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748375973	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	49	0	ENST00000348367.4:c.914G>T	p.Arg305Leu	p.R305L	ENST00000348367		305	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7570.1	914	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCGAAGT	NONE	.	.	Superfamily_domains:0039877,PIRSF_domain:PIRSF000437,SMART_domains:SM00563,PIRSF_domain:PIRSF500064,Gene3D:1iuqA02,Pfam_domain:PF01553,hmmpanther:PTHR12563:SF2,hmmpanther:PTHR12563	.	.	ENSP00000265276	.	11/22	.	.	.	.	.	.	.	.	rs748375973	11/22	PASS	ENST00000348367	Transcript	.	.	ENSG00000119927	24865	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.81)	.	deleterious(0.02)	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	SNV	GPAM,missense_variant,p.Arg305Leu,ENST00000348367,;GPAM,missense_variant,p.Arg305Leu,ENST00000423155,;GPAM,missense_variant,p.Arg305Leu,ENST00000369425,;	1112	49	48	SUCCESS
VWA2	340706	.	GRCh37	10	116032564	116032564	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	45	0	ENST00000392982.3:c.437G>A	p.Arg146Lys	p.R146K	ENST00000392982	NM_001272046.1	146	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	.	437	RADIA|VARSCANS	.	AGGCAGAAATG	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF9,PROSITE_profiles:PS50234	.	.	ENSP00000473752	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000603594	Transcript	.	.	ENSG00000165816	24709	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	VWA2_HUMAN	VWA2	HGNC	.	.	UPI00001C0885	SNV	VWA2,missense_variant,p.Arg146Lys,ENST00000603594,;VWA2,missense_variant,p.Arg146Lys,ENST00000392982,;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;	758	45	34	SUCCESS
TACC2	10579	.	GRCh37	10	123846141	123846141	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	35	0	ENST00000334433.3:c.4126A>G	p.Arg1376Gly	p.R1376G	ENST00000334433		1376	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS7626.1	4126	RADIA|MUTECT|VARSCANS	.	TGGAGAGGATG	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Arg1376Gly,ENST00000369005,;TACC2,missense_variant,p.Arg1376Gly,ENST00000453444,;TACC2,missense_variant,p.Arg1376Gly,ENST00000334433,;TACC2,missense_variant,p.Arg1376Gly,ENST00000515603,;TACC2,missense_variant,p.Arg1376Gly,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	4466	35	49	SUCCESS
ADARB2	105	.	GRCh37	10	1284338	1284338	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	17	0	ENST00000381312.1:c.1217T>G	p.Val406Gly	p.V406G	ENST00000381312	NM_018702.3	406	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS7058.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCACGACCTGC	NONE	.	.	hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,SMART_domains:SM00552	.	.	ENSP00000370713	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,missense_variant,p.Val406Gly,ENST00000381312,;ADARB2,upstream_gene_variant,,ENST00000469464,;	1543	17	13	SUCCESS
MBL2	4153	.	GRCh37	10	54531396	54531396	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	38	0	ENST00000373968.3:c.-1C>T		p.*1*	ENST00000373968	NM_000242.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7247.1	.	RADIA|MUTECT|VARSCANS	.	GACATGGTCCT	NONE	.	.	.	.	.	ENSP00000363079	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000373968	Transcript	1	.	ENSG00000165471	6922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MBL2_HUMAN	MBL2	HGNC	Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN	.	UPI0000035011	SNV	MBL2,5_prime_UTR_variant,,ENST00000373968,;	65	38	61	SUCCESS
FAM208B	0	.	GRCh37	10	5791794	5791794	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs761341274	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	22	0	ENST00000328090.5:c.6410A>T	p.Asp2137Val	p.D2137V	ENST00000328090	NM_017782.4	2137	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS41485.1	6410	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGATGTTT	NONE	.	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	15/21	.	.	.	.	.	.	.	.	rs761341274	15/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.9)	.	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,missense_variant,p.Asp2137Val,ENST00000328090,;	7035	22	20	SUCCESS
CDH23	64072	.	GRCh37	10	73491946	73491946	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	28	0	ENST00000224721.6:c.3933G>A	p.Glu1311=	p.E1311=	ENST00000224721	NM_022124.5	1311	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	.	.	3933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGAGCTGGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000224721	.	31/69	.	.	.	.	.	.	.	.	.	31/69	PASS	ENST00000224721	Transcript	1	.	ENSG00000107736	13733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CDH23	HGNC	.	.	UPI0002B831D5	SNV	CDH23,synonymous_variant,p.%3D,ENST00000224721,;C10orf105,intron_variant,,ENST00000398786,;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;	3938	28	37	SUCCESS
SCN2B	6327	.	GRCh37	11	118037718	118037718	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	55	0	ENST00000278947.5:c.532A>G	p.Met178Val	p.M178V	ENST00000278947	NM_004588.4	178	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8390.1	532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATCAGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF3,Prints_domain:PR00213	.	.	ENSP00000278947	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000278947	Transcript	.	.	ENSG00000149575	10589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	SCN2B_HUMAN	SCN2B	HGNC	Q5U0K8_HUMAN	.	UPI000000165E	SNV	SCN2B,missense_variant,p.Met178Val,ENST00000278947,;	774	55	52	SUCCESS
TECTA	7007	.	GRCh37	11	121008141	121008141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	35	0	ENST00000264037.2:c.2953C>A	p.Pro985Thr	p.P985T	ENST00000264037	NM_005422.2	985	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS8434.1	2953	RADIA|VARSCANS	.	AGTGCCCAGAG	NONE	.	.	Superfamily_domains:SSF57567,Pfam_domain:PF01826,Gene3D:2.10.25.10,hmmpanther:PTHR11339	.	.	ENSP00000376543	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000392793	Transcript	.	.	ENSG00000109927	11720	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	TECTA_HUMAN	TECTA	HGNC	.	.	UPI000045659D	SNV	TECTA,missense_variant,p.Pro985Thr,ENST00000264037,;TECTA,missense_variant,p.Pro985Thr,ENST00000392793,;TECTA,upstream_gene_variant,,ENST00000478058,;	3224	35	36	SUCCESS
KIRREL3	84623	.	GRCh37	11	126432754	126432754	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	34	0	ENST00000525144.2:c.109G>A	p.Asp37Asn	p.D37N	ENST00000525144	NM_032531.3	37	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS53723.1	109	RADIA|VARSCANS	.	CTTGTCCTTGG	NONE	.	.	hmmpanther:PTHR11640:SF49,hmmpanther:PTHR11640	.	.	ENSP00000435466	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000525144	Transcript	.	.	ENSG00000149571	23204	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.15)	.	KIRR3_HUMAN	KIRREL3	HGNC	B4DT91_HUMAN	.	UPI00000740A0	SNV	KIRREL3,missense_variant,p.Asp37Asn,ENST00000529097,;KIRREL3,missense_variant,p.Asp37Asn,ENST00000525144,;KIRREL3,missense_variant,p.Asp37Asn,ENST00000525704,;KIRREL3-AS1,intron_variant,,ENST00000548204,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000547738,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000549874,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000533026,;	359	34	33	SUCCESS
ABCC8	6833	.	GRCh37	11	17418528	17418528	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1434876771	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	93	0	ENST00000389817.3:c.4054C>T	p.Arg1352Cys	p.R1352C	ENST00000389817		1352	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS31437.1	4054	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGCACGC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000374467	.	33/39	.	.	.	.	.	.	.	.	COSM925473	33/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	deleterious(0)	1	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Arg1352Cys,ENST00000389817,;ABCC8,missense_variant,p.Arg180Cys,ENST00000528374,;ABCC8,missense_variant,p.Arg1353Cys,ENST00000302539,;ABCC8,3_prime_UTR_variant,,ENST00000527905,;ABCC8,3_prime_UTR_variant,,ENST00000531891,;ABCC8,non_coding_transcript_exon_variant,,ENST00000531137,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532220,;ABCC8,upstream_gene_variant,,ENST00000526037,;ABCC8,upstream_gene_variant,,ENST00000525022,;ABCC8,upstream_gene_variant,,ENST00000531642,;ABCC8,upstream_gene_variant,,ENST00000526168,;	4123	93	73	SUCCESS
ZDHHC13	54503	.	GRCh37	11	19172329	19172329	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770397481	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	138	0	ENST00000446113.2:c.575A>G	p.Lys192Arg	p.K192R	ENST00000446113	NM_019028.2	192	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44550.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAAAGTAA	NONE	byFrequency	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF16,PROSITE_profiles:PS50297	.	.	ENSP00000400113	.	6/17	.	.	.	.	.	.	.	.	rs770397481	6/17	PASS	ENST00000446113	Transcript	.	.	ENSG00000177054	18413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.51)	.	ZDH13_HUMAN	ZDHHC13	HGNC	.	.	UPI000015F967	SNV	ZDHHC13,missense_variant,p.Lys62Arg,ENST00000399351,;ZDHHC13,missense_variant,p.Lys192Arg,ENST00000446113,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000530698,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532812,;ZDHHC13,downstream_gene_variant,,ENST00000532026,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000525490,;	696	138	133	SUCCESS
ACCS	84680	.	GRCh37	11	44089461	44089461	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	33	0	ENST00000263776.8:c.284C>A	p.Pro95His	p.P95H	ENST00000263776	NM_032592.3	95	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS7907.1	284	RADIA|VARSCANS	.	GAACCCCAGTG	NONE	.	.	hmmpanther:PTHR11751:SF276,hmmpanther:PTHR11751,Superfamily_domains:SSF53383	.	.	ENSP00000263776	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000263776	Transcript	.	.	ENSG00000110455	23989	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	1A1L1_HUMAN	ACCS	HGNC	E9PS61_HUMAN,E9PRT9_HUMAN	.	UPI000006D45A	SNV	ACCS,missense_variant,p.Pro95His,ENST00000524990,;ACCS,missense_variant,p.Pro95His,ENST00000432284,;ACCS,missense_variant,p.Pro95His,ENST00000263776,;ACCS,downstream_gene_variant,,ENST00000533404,;CTD-2609K8.3,upstream_gene_variant,,ENST00000531268,;ACCS,intron_variant,,ENST00000533208,;ACCS,non_coding_transcript_exon_variant,,ENST00000526577,;ACCS,intron_variant,,ENST00000527603,;	718	33	37	SUCCESS
LRP4	4038	.	GRCh37	11	46897041	46897041	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	24	0	ENST00000378623.1:c.3891G>A	p.Met1297Ile	p.M1297I	ENST00000378623	NM_002334.3	1297	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS31478.1	3891	RADIA|VARSCANS	.	ATGTCCATGAG	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000367888	.	27/38	.	.	.	.	.	.	.	.	.	27/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.044)	.	deleterious(0)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Met1297Ile,ENST00000378623,;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;	4134	24	19	SUCCESS
OR8H1	219469	.	GRCh37	11	56057883	56057883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	73	1	ENST00000313022.2:c.656C>A	p.Ser219Tyr	p.S219Y	ENST00000313022	NM_001005199.1	219	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS31526.1	656	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAATGGACACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313022	Transcript	.	.	ENSG00000181693	14824	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(1)	.	OR8H1_HUMAN	OR8H1	HGNC	.	.	UPI0000041BC0	SNV	OR8H1,missense_variant,p.Ser219Tyr,ENST00000313022,;	684	74	89	SUCCESS
PC	5091	.	GRCh37	11	66618382	66618382	+	synonymous_variant	Silent	SNP	G	G	A	rs757893864	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	47	0	ENST00000393955.2:c.2236C>T	p.Leu746=	p.L746=	ENST00000393955	NM_022172.2	746	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8152.1	2236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCCCGG	NONE	.	.	Superfamily_domains:SSF51569,PIRSF_domain:PIRSF001594,Gene3D:3.20.20.70,TIGRFAM_domain:TIGR01235,Pfam_domain:PF00682,hmmpanther:PTHR18866,PROSITE_profiles:PS50991	.	.	ENSP00000377532	.	18/23	.	.	.	.	.	.	.	.	rs757893864	18/23	PASS	ENST00000393960	Transcript	.	.	ENSG00000173599	8636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYC_HUMAN	PC	HGNC	E9PS68_HUMAN	.	UPI0000132BC4	SNV	PC,synonymous_variant,p.%3D,ENST00000393960,;PC,synonymous_variant,p.%3D,ENST00000393958,;PC,synonymous_variant,p.%3D,ENST00000393955,;RCE1,downstream_gene_variant,,ENST00000525356,;RCE1,downstream_gene_variant,,ENST00000309657,;RCE1,downstream_gene_variant,,ENST00000524506,;PC,upstream_gene_variant,,ENST00000529047,;PC,non_coding_transcript_exon_variant,,ENST00000530259,;PC,upstream_gene_variant,,ENST00000528224,;PC,upstream_gene_variant,,ENST00000529352,;RCE1,downstream_gene_variant,,ENST00000533277,;RCE1,downstream_gene_variant,,ENST00000524849,;	2518	47	34	SUCCESS
CTTN	2017	.	GRCh37	11	70260723	70260723	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1471298429	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	85	0	ENST00000301843.8:c.367G>A	p.Gly123Ser	p.G123S	ENST00000301843	NM_005231.3	123	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS53676.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGAGGCAAG	NONE	.	.	PROSITE_profiles:PS51090,hmmpanther:PTHR10829:SF15,hmmpanther:PTHR10829,Pfam_domain:PF02218	.	.	ENSP00000365745	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000376561	Transcript	.	.	ENSG00000085733	3338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	SRC8_HUMAN	CTTN	HGNC	E9PP90_HUMAN,E9PKG3_HUMAN,B4E358_HUMAN	.	UPI000006E3C2	SNV	CTTN,missense_variant,p.Gly123Ser,ENST00000376561,;CTTN,missense_variant,p.Gly123Ser,ENST00000301843,;CTTN,missense_variant,p.Gly105Ser,ENST00000415461,;CTTN,missense_variant,p.Gly123Ser,ENST00000346329,;CTTN,downstream_gene_variant,,ENST00000527622,;CTTN,non_coding_transcript_exon_variant,,ENST00000525276,;CTTN,upstream_gene_variant,,ENST00000532334,;	538	85	90	SUCCESS
STAB2	55576	.	GRCh37	12	104118857	104118857	+	synonymous_variant	Silent	SNP	C	C	T	rs751986200	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	45	0	ENST00000388887.2:c.4788C>T	p.Arg1596=	p.R1596=	ENST00000388887	NM_017564.9	1596	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31888.1	4788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGCGGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,SMART_domains:SM00181,Superfamily_domains:SSF82153	.	.	ENSP00000373539	.	45/69	.	.	.	.	.	.	.	.	rs751986200,COSM80589	45/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,synonymous_variant,p.%3D,ENST00000388887,;snoU13,upstream_gene_variant,,ENST00000459574,;	4992	45	29	SUCCESS
PPM1H	57460	.	GRCh37	12	63083509	63083509	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	44	0	ENST00000228705.6:c.1215C>T	p.Tyr405=	p.Y405=	ENST00000228705	NM_020700.1	405	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS44934.1	1215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATGTAGAT	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000228705	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000228705	Transcript	.	.	ENSG00000111110	18583	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,synonymous_variant,p.%3D,ENST00000228705,;PPM1H,non_coding_transcript_exon_variant,,ENST00000551214,;PPM1H,downstream_gene_variant,,ENST00000551519,;	1516	44	35	SUCCESS
CD27	939	.	GRCh37	12	6560517	6560517	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	55	0	ENST00000266557.3:c.742C>A	p.Gln248Lys	p.Q248K	ENST00000266557	NM_001242.4	248	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS8545.1	742	RADIA|VARSCANS	.	CCATCCAGGAG	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF23	.	.	ENSP00000266557	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000266557	Transcript	.	.	ENSG00000139193	11922	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CD27_HUMAN	CD27	HGNC	.	.	UPI000013D6F7	SNV	CD27,missense_variant,p.Gln248Lys,ENST00000266557,;TAPBPL,upstream_gene_variant,,ENST00000544021,;TAPBPL,upstream_gene_variant,,ENST00000266556,;CD27-AS1,intron_variant,,ENST00000545339,;CD27-AS1,intron_variant,,ENST00000399492,;CD27,non_coding_transcript_exon_variant,,ENST00000541233,;TAPBPL,upstream_gene_variant,,ENST00000545700,;TAPBPL,upstream_gene_variant,,ENST00000539384,;TAPBPL,upstream_gene_variant,,ENST00000543567,;TAPBPL,upstream_gene_variant,,ENST00000544826,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000535639,;CD27-AS1,intron_variant,,ENST00000504270,;CD27-AS1,intron_variant,,ENST00000537003,;CD27-AS1,intron_variant,,ENST00000536388,;CD27-AS1,intron_variant,,ENST00000538616,;CD27-AS1,upstream_gene_variant,,ENST00000447687,;CD27-AS1,upstream_gene_variant,,ENST00000417058,;	971	55	29	SUCCESS
CAND1	55832	.	GRCh37	12	67663489	67663489	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	16	0	ENST00000545606.1:c.-9G>A		p.*3*	ENST00000545606	NM_018448.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8977.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGGCCGTC	NONE	.	.	.	.	.	ENSP00000442318	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,5_prime_UTR_variant,,ENST00000545606,;CAND1,upstream_gene_variant,,ENST00000540525,;CAND1,upstream_gene_variant,,ENST00000539109,;CAND1,non_coding_transcript_exon_variant,,ENST00000541058,;CAND1,upstream_gene_variant,,ENST00000539434,;GGTA2P,upstream_gene_variant,,ENST00000543442,;	429	16	19	SUCCESS
TRPC4	7223	.	GRCh37	13	38248410	38248410	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	37	99	0	ENST00000379705.3:c.1329C>T	p.Ser443=	p.S443=	ENST00000379705		443	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45037.1	1329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAAGGAGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870	.	.	ENSP00000369003	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000379681	Transcript	.	.	ENSG00000133107	12336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC4_HUMAN	TRPC4	HGNC	.	.	UPI000006E5BE	SNV	TRPC4,synonymous_variant,p.%3D,ENST00000379673,;TRPC4,synonymous_variant,p.%3D,ENST00000338947,;TRPC4,synonymous_variant,p.%3D,ENST00000379681,;TRPC4,synonymous_variant,p.%3D,ENST00000447043,;TRPC4,synonymous_variant,p.%3D,ENST00000379679,;TRPC4,synonymous_variant,p.%3D,ENST00000355779,;TRPC4,synonymous_variant,p.%3D,ENST00000358477,;TRPC4,synonymous_variant,p.%3D,ENST00000426868,;TRPC4,synonymous_variant,p.%3D,ENST00000379705,;TRPC4,non_coding_transcript_exon_variant,,ENST00000494529,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	1564	99	97	SUCCESS
JAG2	3714	.	GRCh37	14	105611364	105611364	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1486931022	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	43	1	ENST00000331782.3:c.2987G>A	p.Arg996His	p.R996H	ENST00000331782	NM_002226.4	996	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9998.1	2987	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGAGCGGATC	NONE	.	.	hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044,Prints_domain:PR02059	.	.	ENSP00000328169	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000331782	Transcript	.	.	ENSG00000184916	6189	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	JAG2_HUMAN	JAG2	HGNC	.	.	UPI0000167BD5	SNV	JAG2,missense_variant,p.Arg958His,ENST00000347004,;JAG2,missense_variant,p.Arg996His,ENST00000331782,;JAG2,non_coding_transcript_exon_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553244,;	3391	44	39	SUCCESS
JAG2	3714	.	GRCh37	14	105614150	105614150	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	30	0	ENST00000331782.3:c.2324G>A	p.Cys775Tyr	p.C775Y	ENST00000331782	NM_002226.4	775	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS9998.1	2324	RADIA|VARSCANS	.	AGATGCAGGAG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000328169	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000331782	Transcript	.	.	ENSG00000184916	6189	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	JAG2_HUMAN	JAG2	HGNC	.	.	UPI0000167BD5	SNV	JAG2,missense_variant,p.Cys737Tyr,ENST00000347004,;JAG2,missense_variant,p.Cys775Tyr,ENST00000331782,;RP11-44N21.4,downstream_gene_variant,,ENST00000548203,;JAG2,non_coding_transcript_exon_variant,,ENST00000553244,;JAG2,upstream_gene_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553051,;	2728	30	39	SUCCESS
NUDT14	256281	.	GRCh37	14	105639440	105639440	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753782011	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	34	0	ENST00000392568.2:c.587C>A	p.Pro196Gln	p.P196Q	ENST00000392568	NM_177533.4	196	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS10000.1	587	RADIA|VARSCANS	.	TGTCCGGGTCG	NONE	byFrequency	.	PROSITE_profiles:PS51462,hmmpanther:PTHR11839,Gene3D:3.90.79.10,TIGRFAM_domain:TIGR00052,Pfam_domain:PF00293,Superfamily_domains:SSF55811	.	.	ENSP00000376349	.	5/5	.	.	.	.	.	.	.	.	rs753782011	5/5	PASS	ENST00000392568	Transcript	.	.	ENSG00000183828	20141	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.911)	.	tolerated(0.18)	.	NUD14_HUMAN	NUDT14	HGNC	.	.	UPI000000D730	SNV	NUDT14,missense_variant,p.Pro196Gln,ENST00000392568,;JAG2,upstream_gene_variant,,ENST00000347004,;JAG2,upstream_gene_variant,,ENST00000331782,;NUDT14,non_coding_transcript_exon_variant,,ENST00000550912,;RP11-44N21.4,intron_variant,,ENST00000548203,;NUDT14,downstream_gene_variant,,ENST00000546553,;NUDT14,downstream_gene_variant,,ENST00000339418,;NUDT14,downstream_gene_variant,,ENST00000550002,;NUDT14,downstream_gene_variant,,ENST00000551024,;	681	34	36	SUCCESS
IGHV1-2	28474	.	GRCh37	14	106452864	106452864	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782675905	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	56	183	0	ENST00000390594.2:c.158T>C	p.Met53Thr	p.M53T	ENST00000390594		53	aTg/aCg	0	.	.	.	.	.	G	M/T	IG_V_gene	YES	.	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCATATAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375003	.	2/2	.	.	.	.	.	.	.	.	rs782675905	2/2	PASS	ENST00000390594	Transcript	.	.	ENSG00000211934	5550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.01)	.	.	IGHV1-2	HGNC	.	.	UPI0000115F95	SNV	IGHV1-2,missense_variant,p.Met53Thr,ENST00000390594,;	222	183	152	SUCCESS
SYT16	83851	.	GRCh37	14	62550927	62550927	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758851790	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	46	0	ENST00000430451.2:c.1448C>T	p.Pro483Leu	p.P483L	ENST00000430451	NM_031914.2	483	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45121.1	1448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCGCTCA	NONE	.	.	hmmpanther:PTHR10024:SF113,hmmpanther:PTHR10024	.	.	ENSP00000394700	.	5/6	.	.	.	.	.	.	.	.	rs758851790	5/6	PASS	ENST00000430451	Transcript	.	.	ENSG00000139973	23142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.15)	.	SYT16_HUMAN	SYT16	HGNC	.	.	UPI0000EE1AC0	SNV	SYT16,missense_variant,p.Pro483Leu,ENST00000430451,;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	1645	46	48	SUCCESS
ALDH6A1	4329	.	GRCh37	14	74535597	74535597	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	63	0	ENST00000553458.1:c.818G>A	p.Gly273Glu	p.G273E	ENST00000553458	NM_001278593.1	273	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9826.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCCTCTC	NONE	.	.	Superfamily_domains:SSF53720,Pfam_domain:PF00171,TIGRFAM_domain:TIGR01722,Gene3D:3.40.605.10,hmmpanther:PTHR11699:SF27,hmmpanther:PTHR11699	.	.	ENSP00000450436	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000553458	Transcript	.	.	ENSG00000119711	7179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	MMSA_HUMAN	ALDH6A1	HGNC	G3V4Z4_HUMAN	.	UPI0000001610	SNV	ALDH6A1,missense_variant,p.Gly273Glu,ENST00000553458,;ALDH6A1,missense_variant,p.Gly260Glu,ENST00000350259,;ALDH6A1,5_prime_UTR_variant,,ENST00000555126,;CCDC176,intron_variant,,ENST00000553773,;CCDC176,downstream_gene_variant,,ENST00000394009,;AC005484.5,intron_variant,,ENST00000492026,;ALDH6A1,downstream_gene_variant,,ENST00000553814,;ALDH6A1,downstream_gene_variant,,ENST00000556852,;ALDH6A1,non_coding_transcript_exon_variant,,ENST00000554501,;ALDH6A1,downstream_gene_variant,,ENST00000554231,;	917	63	77	SUCCESS
FLRT2	23768	.	GRCh37	14	86089513	86089513	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	70	0	ENST00000330753.4:c.1655T>C	p.Ile552Thr	p.I552T	ENST00000330753	NM_013231.4	552	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS9877.1	1655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGATATTTG	BUFFER|p.A550T|c.1648G>A|4,BUFFER|p.A550V|c.1649C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.25)	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,missense_variant,p.Ile552Thr,ENST00000330753,;FLRT2,missense_variant,p.Ile552Thr,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2422	70	60	SUCCESS
HMGN2P46	283651	.	GRCh37	15	45848235	45848235	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	47	0	ENST00000396645.2:n.1219T>A		p.*407*	ENST00000396645				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTTTTTTTT	NONE	.	2561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000557965	Transcript	.	.	ENSG00000259681	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-96O20.2	Clone_based_vega_gene	.	.	.	SNV	RP11-96O20.2,upstream_gene_variant,,ENST00000557965,;HMGN2P46,non_coding_transcript_exon_variant,,ENST00000409454,;HMGN2P46,non_coding_transcript_exon_variant,,ENST00000396644,;HMGN2P46,non_coding_transcript_exon_variant,,ENST00000396645,;HMGN2P46,non_coding_transcript_exon_variant,,ENST00000313559,;HMGN2P46,intron_variant,,ENST00000568669,;HMGN2P46,downstream_gene_variant,,ENST00000564594,;HMGN2P46,downstream_gene_variant,,ENST00000598619,;	.	47	55	SUCCESS
C15orf39	56905	.	GRCh37	15	75498804	75498804	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	58	0	ENST00000360639.2:c.415T>C	p.Cys139Arg	p.C139R	ENST00000360639		139	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS10276.1	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTGCTAT	NONE	.	.	.	.	.	ENSP00000353854	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000360639	Transcript	.	.	ENSG00000167173	24497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	deleterious(0)	.	CO039_HUMAN	C15orf39	HGNC	H3BT66_HUMAN,H3BRS2_HUMAN,H3BN41_HUMAN	.	UPI000004F079	SNV	C15orf39,missense_variant,p.Cys139Arg,ENST00000360639,;C15orf39,missense_variant,p.Cys139Arg,ENST00000394987,;C15orf39,missense_variant,p.Cys139Arg,ENST00000567617,;C15orf39,missense_variant,p.Cys8Arg,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;C15orf39,downstream_gene_variant,,ENST00000563905,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	735	58	48	SUCCESS
NTRK3	4916	.	GRCh37	15	88727470	88727470	+	synonymous_variant	Silent	SNP	G	G	T	rs201222990	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	35	0	ENST00000360948.2:c.309C>A	p.Thr103=	p.T103=	ENST00000360948	NM_001012338.2	103	acC/acA	0	A:0	A:0	.	A:0.0072	.	T	T	protein_coding	YES	CCDS32322.1	309	RADIA|VARSCANS	.	AGTCCGGTGTA	NONE	byFrequency|byCluster|by1000G	.	Prints_domain:PR01939,Superfamily_domains:SSF52058,Gene3D:3.80.10.10	A:0	A:0.0001	ENSP00000354207	A:0	3/19	.	.	.	.	.	.	.	.	rs201222990	3/19	PASS	ENST00000360948	Transcript	1	A:0.0012	ENSG00000140538	8033	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,synonymous_variant,p.%3D,ENST00000317501,;NTRK3,synonymous_variant,p.%3D,ENST00000559188,;NTRK3,synonymous_variant,p.%3D,ENST00000558676,;NTRK3,synonymous_variant,p.%3D,ENST00000557856,;NTRK3,synonymous_variant,p.%3D,ENST00000540489,;NTRK3,synonymous_variant,p.%3D,ENST00000394480,;NTRK3,synonymous_variant,p.%3D,ENST00000542733,;NTRK3,synonymous_variant,p.%3D,ENST00000357724,;NTRK3,synonymous_variant,p.%3D,ENST00000355254,;NTRK3,synonymous_variant,p.%3D,ENST00000360948,;	471	35	34	SUCCESS
SCNN1B	6338	.	GRCh37	16	23366664	23366664	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	65	0	ENST00000343070.2:c.630T>C	p.Ser210=	p.S210=	ENST00000343070	NM_000336.2	210	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS10609.1	630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTGCTAC	NONE	.	.	hmmpanther:PTHR11690:SF18,hmmpanther:PTHR11690,TIGRFAM_domain:TIGR00859,Pfam_domain:PF00858	.	.	ENSP00000345751	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000343070	Transcript	.	.	ENSG00000168447	10600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNNB_HUMAN	SCNN1B	HGNC	B2R812_HUMAN	.	UPI0000135616	SNV	SCNN1B,synonymous_variant,p.%3D,ENST00000307331,;SCNN1B,synonymous_variant,p.%3D,ENST00000343070,;SCNN1B,synonymous_variant,p.%3D,ENST00000568085,;SCNN1B,intron_variant,,ENST00000568923,;SCNN1B,upstream_gene_variant,,ENST00000566647,;SCNN1B,downstream_gene_variant,,ENST00000569789,;SCNN1B,synonymous_variant,p.%3D,ENST00000564275,;SCNN1B,upstream_gene_variant,,ENST00000566441,;SCNN1B,downstream_gene_variant,,ENST00000566870,;	806	65	32	SUCCESS
LCMT1	51451	.	GRCh37	16	25139863	25139863	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	35	0	ENST00000399069.3:c.181A>G	p.Arg61Gly	p.R61G	ENST00000399069	NM_016309.2	61	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS45445.1	181	RADIA|VARSCANS	.	AAGAGAGGAAA	NONE	.	.	hmmpanther:PTHR13600:SF6,hmmpanther:PTHR13600,Gene3D:3.40.50.150,Pfam_domain:PF04072,PIRSF_domain:PIRSF016305,Superfamily_domains:SSF53335	.	.	ENSP00000382021	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000399069	Transcript	.	.	ENSG00000205629	17557	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	LCMT1_HUMAN	LCMT1	HGNC	I3L2Q8_HUMAN	.	UPI0000000C29	SNV	LCMT1,missense_variant,p.Arg45Gly,ENST00000570981,;LCMT1,missense_variant,p.Arg61Gly,ENST00000399069,;LCMT1,missense_variant,p.Arg61Gly,ENST00000380966,;LCMT1,non_coding_transcript_exon_variant,,ENST00000577157,;LCMT1,missense_variant,p.Arg61Gly,ENST00000564011,;LCMT1,3_prime_UTR_variant,,ENST00000380962,;	336	35	27	SUCCESS
INO80E	283899	.	GRCh37	16	30012145	30012145	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376962416	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	22	0	ENST00000563197.1:c.272C>A	p.Pro91Gln	p.P91Q	ENST00000563197	NM_173618.1	91	cCg/cAg	0	T:0	.	.	.	.	A	P/Q	protein_coding	YES	CCDS10665.1	272	RADIA|VARSCANS	.	CACACCGGCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21812	.	T:0.0002	ENSP00000457016	.	4/7	.	.	.	.	.	.	.	.	rs376962416	4/7	PASS	ENST00000563197	Transcript	.	.	ENSG00000169592	26905	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.757)	.	tolerated(0.37)	.	IN80E_HUMAN	INO80E	HGNC	.	.	UPI000000DC3E	SNV	INO80E,missense_variant,p.Pro91Gln,ENST00000563197,;INO80E,missense_variant,p.Pro91Gln,ENST00000567254,;INO80E,missense_variant,p.Pro91Gln,ENST00000304516,;INO80E,missense_variant,p.Pro91Gln,ENST00000567705,;HIRIP3,upstream_gene_variant,,ENST00000279392,;INO80E,upstream_gene_variant,,ENST00000562291,;DOC2A,downstream_gene_variant,,ENST00000350119,;DOC2A,downstream_gene_variant,,ENST00000564944,;DOC2A,downstream_gene_variant,,ENST00000564357,;HIRIP3,upstream_gene_variant,,ENST00000566471,;INO80E,downstream_gene_variant,,ENST00000563040,;INO80E,missense_variant,p.Pro91Gln,ENST00000567987,;INO80E,missense_variant,p.Pro91Gln,ENST00000567065,;INO80E,missense_variant,p.Pro91Gln,ENST00000562441,;INO80E,non_coding_transcript_exon_variant,,ENST00000569957,;INO80E,non_coding_transcript_exon_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000568043,;HIRIP3,upstream_gene_variant,,ENST00000563053,;HIRIP3,upstream_gene_variant,,ENST00000568880,;DOC2A,downstream_gene_variant,,ENST00000564233,;INO80E,downstream_gene_variant,,ENST00000380503,;	1289	22	18	SUCCESS
AXIN1	8312	.	GRCh37	16	339439	339439	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs773799650	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	21	0	ENST00000262320.3:c.2462+1G>A		p.X821_splice	ENST00000262320	NM_003502.3	821		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10405.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ACTCACCTGTA	NONE	.	.	.	.	.	ENSP00000262320	.	.	.	.	.	.	.	.	.	.	rs773799650	.	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	10/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,splice_donor_variant,,ENST00000457798,;AXIN1,splice_donor_variant,,ENST00000262320,;AXIN1,splice_donor_variant,,ENST00000354866,;PDIA2,downstream_gene_variant,,ENST00000404312,;PDIA2,downstream_gene_variant,,ENST00000219406,;PDIA2,downstream_gene_variant,,ENST00000435833,;PDIA2,downstream_gene_variant,,ENST00000456379,;PDIA2,downstream_gene_variant,,ENST00000462950,;AXIN1,splice_donor_variant,,ENST00000461023,;PDIA2,downstream_gene_variant,,ENST00000482665,;PDIA2,downstream_gene_variant,,ENST00000467212,;	.	21	15	SUCCESS
CREBBP	1387	.	GRCh37	16	3900530	3900530	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	53	0	ENST00000262367.5:c.566T>C	p.Leu189Pro	p.L189P	ENST00000262367	NM_004380.2	189	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS10509.1	566	RADIA|VARSCANS	.	TATTGAGGAGG	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	.	.	ENSP00000262367	.	2/31	.	.	.	.	.	.	.	.	.	2/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,missense_variant,p.Leu189Pro,ENST00000262367,;CREBBP,missense_variant,p.Leu189Pro,ENST00000382070,;	1376	53	30	SUCCESS
CES5A	221223	.	GRCh37	16	55893533	55893533	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	77	0	ENST00000290567.9:c.982T>C	p.Ser328Pro	p.S328P	ENST00000290567	NM_001143685.1	328	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS54012.1	1069	RADIA|MUTECT|VARSCANS	.	CTGAGACAATA	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF43,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000428864	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000521992	Transcript	.	.	ENSG00000159398	26459	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.828)	.	deleterious(0.01)	.	EST5A_HUMAN	CES5A	HGNC	I3NI11_HUMAN,F5H0J7_HUMAN	.	UPI0001914B41	SNV	CES5A,missense_variant,p.Ser298Pro,ENST00000520435,;CES5A,missense_variant,p.Ser222Pro,ENST00000518005,;CES5A,missense_variant,p.Ser328Pro,ENST00000319165,;CES5A,missense_variant,p.Ser357Pro,ENST00000521992,;CES5A,missense_variant,p.Ser328Pro,ENST00000290567,;CES5A,non_coding_transcript_exon_variant,,ENST00000541580,;CES5A,3_prime_UTR_variant,,ENST00000521228,;CES5A,3_prime_UTR_variant,,ENST00000544479,;	1215	77	42	SUCCESS
MYH4	4622	.	GRCh37	17	10353951	10353951	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	29	0	ENST00000255381.2:c.4000del	p.Ala1334ProfsTer64	p.A1334Pfs*64	ENST00000255381	NM_017533.2	1334	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS11154.1	4000	INDELOCATOR*|VARSCANI*|PINDEL	.	CATGGGCCAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF278,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000255381	.	30/40	.	.	.	.	.	.	.	.	.	30/40	PASS	ENST00000255381	Transcript	.	.	ENSG00000264424	7574	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYH4_HUMAN	MYH4	HGNC	.	.	UPI000013CEAB	deletion	MYH4,frameshift_variant,p.Ala1334ProfsTer64,ENST00000255381,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4111	29	33	SUCCESS
MYH1	4619	.	GRCh37	17	10404676	10404676	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	23	91	0	ENST00000226207.5:c.3489C>A	p.Ala1163=	p.A1163=	ENST00000226207	NM_005963.3	1163	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11155.1	3489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGGGCTGA	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3584	91	36	SUCCESS
PSMD11	5717	.	GRCh37	17	30806343	30806343	+	synonymous_variant	Silent	SNP	C	C	T	rs770431348	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	59	0	ENST00000261712.3:c.987C>T	p.Asn329=	p.N329=	ENST00000261712	NM_001270482.1	329	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS11272.1	987	RADIA|MUTECT|MUSE|VARSCANS	.	GATAACTTACT	NONE	.	.	hmmpanther:PTHR10678:SF4,hmmpanther:PTHR10678,Pfam_domain:PF01399,Gene3D:1.10.10.10,SMART_domains:SM00088,Superfamily_domains:SSF48452,Superfamily_domains:SSF46785	.	.	ENSP00000261712	.	10/14	.	.	.	.	.	.	.	.	rs770431348	10/14	PASS	ENST00000261712	Transcript	.	.	ENSG00000108671	9556	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSD11_HUMAN	PSMD11	HGNC	J3KSW3_HUMAN	.	UPI0000132791	SNV	PSMD11,synonymous_variant,p.%3D,ENST00000457654,;PSMD11,synonymous_variant,p.%3D,ENST00000261712,;PSMD11,non_coding_transcript_exon_variant,,ENST00000493026,;PSMD11,downstream_gene_variant,,ENST00000584340,;PSMD11,upstream_gene_variant,,ENST00000585265,;PSMD11,upstream_gene_variant,,ENST00000469475,;PSMD11,downstream_gene_variant,,ENST00000578397,;	1250	59	92	SUCCESS
SHPK	23729	.	GRCh37	17	3514107	3514107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	45	0	ENST00000225519.3:c.1184T>A	p.Leu395Gln	p.L395Q	ENST00000225519	NM_013276.2	395	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11030.1	1184	RADIA|VARSCANS	.	GCCCCAGGGAG	NONE	.	.	hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF22,Superfamily_domains:SSF53067	.	.	ENSP00000225519	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000225519	Transcript	.	.	ENSG00000197417	1492	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SHPK_HUMAN	SHPK	HGNC	.	.	UPI000013C86F	SNV	SHPK,missense_variant,p.Leu395Gln,ENST00000225519,;SHPK,upstream_gene_variant,,ENST00000572705,;SHPK,missense_variant,p.Leu395Gln,ENST00000572919,;	1287	45	19	SUCCESS
BRCA1	672	.	GRCh37	17	41228578	41228578	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	75	0	ENST00000357654.3:c.4411G>C	p.Gly1471Arg	p.G1471R	ENST00000357654	NM_007294.3	1471	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS11456.2	4474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCTTCTG	NONE	.	.	hmmpanther:PTHR13763:SF0,hmmpanther:PTHR13763,PIRSF_domain:PIRSF001734	.	.	ENSP00000418960	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000471181	Transcript	.	.	ENSG00000012048	1100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.161)	.	tolerated(0.14)	.	.	BRCA1	HGNC	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFC7_HUMAN,E7EWN5_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN	.	UPI0000E0360B	SNV	BRCA1,missense_variant,p.Gly329Arg,ENST00000352993,;BRCA1,missense_variant,p.Gly288Arg,ENST00000351666,;BRCA1,missense_variant,p.Gly321Arg,ENST00000493919,;BRCA1,missense_variant,p.Gly1471Arg,ENST00000357654,;BRCA1,missense_variant,p.Gly1175Arg,ENST00000309486,;BRCA1,missense_variant,p.Gly367Arg,ENST00000468300,;BRCA1,missense_variant,p.Gly1424Arg,ENST00000493795,;BRCA1,missense_variant,p.Gly367Arg,ENST00000478531,;BRCA1,missense_variant,p.Gly367Arg,ENST00000491747,;BRCA1,missense_variant,p.Gly1492Arg,ENST00000471181,;BRCA1,missense_variant,p.Gly242Arg,ENST00000484087,;BRCA1,missense_variant,p.Gly235Arg,ENST00000461574,;BRCA1,missense_variant,p.Gly243Arg,ENST00000487825,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000346315,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,intron_variant,,ENST00000354071,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;RPL21P4,upstream_gene_variant,,ENST00000497954,;	4706	75	70	SUCCESS
DGKE	8526	.	GRCh37	17	54912182	54912182	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	25	0	ENST00000284061.3:c.26C>T	p.Pro9Leu	p.P9L	ENST00000284061	NM_003647.2	9	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11590.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCCGGGCT	NONE	.	.	.	.	.	ENSP00000284061	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000284061	Transcript	.	.	ENSG00000153933	2852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.31)	.	DGKE_HUMAN	DGKE	HGNC	A1L4Q0_HUMAN	.	UPI000012DD1F	SNV	DGKE,missense_variant,p.Pro9Leu,ENST00000284061,;DGKE,missense_variant,p.Pro9Leu,ENST00000572810,;DGKE,upstream_gene_variant,,ENST00000572944,;C17orf67,upstream_gene_variant,,ENST00000397861,;C17orf67,upstream_gene_variant,,ENST00000575658,;DGKE,non_coding_transcript_exon_variant,,ENST00000576869,;C17orf67,intron_variant,,ENST00000487705,;	206	25	23	SUCCESS
MTMR4	9110	.	GRCh37	17	56573314	56573314	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	14	0	ENST00000323456.5:c.2189G>A	p.Gly730Glu	p.G730E	ENST00000323456	NM_004687.4	730	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS11608.1	2189	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCCCTTA	NONE	.	.	hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807	.	.	ENSP00000325285	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.27)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Gly730Glu,ENST00000323456,;MTMR4,missense_variant,p.Gly673Glu,ENST00000579925,;MTMR4,upstream_gene_variant,,ENST00000578259,;	2314	14	16	SUCCESS
CEP95	90799	.	GRCh37	17	62523368	62523368	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	40	0	ENST00000556440.2:c.1292A>G	p.Lys431Arg	p.K431R	ENST00000556440	NM_138363.1	431	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS45763.1	1292	RADIA|VARSCANS	.	GCCAAAGAAGT	NONE	.	.	hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545	.	.	ENSP00000450461	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000556440	Transcript	.	.	ENSG00000258890	25141	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.078)	.	tolerated(0.83)	.	CEP95_HUMAN	CEP95	HGNC	K7ENV0_HUMAN,B4DMD2_HUMAN	.	UPI000006F4B3	SNV	CEP95,missense_variant,p.Lys431Arg,ENST00000556440,;CEP95,missense_variant,p.Lys59Arg,ENST00000583457,;CEP95,missense_variant,p.Lys267Arg,ENST00000553412,;AC009994.2,downstream_gene_variant,,ENST00000579926,;CEP95,non_coding_transcript_exon_variant,,ENST00000577476,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000584857,;CEP95,non_coding_transcript_exon_variant,,ENST00000579117,;CEP95,non_coding_transcript_exon_variant,,ENST00000579478,;CEP95,upstream_gene_variant,,ENST00000579637,;CEP95,downstream_gene_variant,,ENST00000579860,;CEP95,downstream_gene_variant,,ENST00000577960,;	1802	40	37	SUCCESS
ABCA6	23460	.	GRCh37	17	67084357	67084357	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs762034572	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	51	0	ENST00000284425.2:c.3649A>T	p.Met1217Leu	p.M1217L	ENST00000284425	NM_080284.2	1217	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS11683.1	3649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATGCATC	NONE	byFrequency	.	hmmpanther:PTHR19229:SF13,hmmpanther:PTHR19229	.	.	ENSP00000284425	.	28/39	.	.	.	.	.	.	.	.	rs762034572	28/39	PASS	ENST00000284425	Transcript	.	.	ENSG00000154262	36	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	ABCA6_HUMAN	ABCA6	HGNC	.	.	UPI000013DD9D	SNV	ABCA6,missense_variant,p.Met1217Leu,ENST00000284425,;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,upstream_gene_variant,,ENST00000589482,;	3824	51	48	SUCCESS
EVPL	2125	.	GRCh37	17	74015070	74015070	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	15	50	0	ENST00000301607.3:c.1209C>A	p.Ala403=	p.A403=	ENST00000301607	NM_001988.2	403	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11737.1	1209	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGGGCCAC	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,synonymous_variant,p.%3D,ENST00000586740,;EVPL,synonymous_variant,p.%3D,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	1463	50	89	SUCCESS
LAMA1	284217	.	GRCh37	18	7050908	7050908	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	42	0	ENST00000389658.3:c.373A>T	p.Lys125Ter	p.K125*	ENST00000389658	NM_005559.3	125	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS32787.1	373	RADIA|VARSCANS	.	AGCTTTAATGA	NONE	.	.	PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136	.	.	ENSP00000374309	.	4/63	.	.	.	.	.	.	.	.	.	4/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,stop_gained,p.Lys125Ter,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	467	42	39	SUCCESS
ELAVL3	1995	.	GRCh37	19	11577475	11577475	+	synonymous_variant	Silent	SNP	G	G	A	rs201270169	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	47	112	0	ENST00000359227.3:c.177C>T	p.Phe59=	p.F59=	ENST00000359227	NM_001420.3	59	ttC/ttT	0	A:0	A:0	.	A:0.0029	.	A	F	protein_coding	YES	CCDS32912.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGAAGAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF250,TIGRFAM_domain:TIGR01661,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928	A:0	A:0.0002	ENSP00000352162	A:0	2/7	.	.	.	.	.	.	.	.	rs201270169	2/7	PASS	ENST00000359227	Transcript	.	A:0.0006	ENSG00000196361	3314	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	ELAV3_HUMAN	ELAVL3	HGNC	Q96J71_HUMAN	.	UPI0000129E75	SNV	ELAVL3,synonymous_variant,p.%3D,ENST00000588853,;ELAVL3,synonymous_variant,p.%3D,ENST00000438662,;ELAVL3,synonymous_variant,p.%3D,ENST00000359227,;RN7SL669P,upstream_gene_variant,,ENST00000581926,;CTC-398G3.6,3_prime_UTR_variant,,ENST00000585656,;	602	112	85	SUCCESS
CACNA1A	773	.	GRCh37	19	13410090	13410090	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	8	0	ENST00000360228.5:c.2357T>A	p.Leu786Ter	p.L786*	ENST00000360228	NM_001127222.1	786	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS45998.1	2357	MUTECT|MUSE	.	CCAGCAAGTTC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59	.	.	ENSP00000353362	.	19/47	.	.	.	.	.	.	.	.	.	19/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,stop_gained,p.Leu787Ter,ENST00000573710,;CACNA1A,stop_gained,p.Leu786Ter,ENST00000360228,;	2357	8	13	SUCCESS
CYP4F3	4051	.	GRCh37	19	15758035	15758046	+	inframe_deletion	In_Frame_Del	DEL	AAAGTGGAGCCG	AAAGTGGAGCCG	-	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	AAAGTGGAGCCG	AAAGTGGAGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	47	0	ENST00000221307.8:c.426_437del	p.Glu142_Arg146delinsAsp	p.E142_R146delinsD	ENST00000221307	NM_000896.2	142	gaAAAGTGGAGCCGc/gac	0	.	.	.	.	.	-	EKWSR/D	protein_coding	YES	CCDS12332.1	426-437	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTGAAAAGTGGAGCCGCCACC	NONE	.	.	hmmpanther:PTHR24290:SF46,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000221307	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000221307	Transcript	.	.	ENSG00000186529	2646	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP4F3_HUMAN	CYP4F3	HGNC	B7Z5A8_HUMAN	.	UPI0000052BE3	deletion	CYP4F3,inframe_deletion,p.Glu142_Arg146delinsAsp,ENST00000585846,;CYP4F3,inframe_deletion,p.Glu142_Arg146delinsAsp,ENST00000221307,;CYP4F3,inframe_deletion,p.Glu142_Arg146delinsAsp,ENST00000591058,;CYP4F3,inframe_deletion,p.Glu142_Arg146delinsAsp,ENST00000586182,;CYP4F3,3_prime_UTR_variant,,ENST00000587360,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000609670,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,upstream_gene_variant,,ENST00000592424,;	473-484	47	41	SUCCESS
CRLF1	9244	.	GRCh37	19	18707746	18707746	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	81	0	ENST00000392386.3:c.811A>T	p.Lys271Ter	p.K271*	ENST00000392386	NM_004750.4	271	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS32962.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATTTGGCTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000376188	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000392386	Transcript	1	.	ENSG00000006016	2364	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRLF1_HUMAN	CRLF1	HGNC	.	.	UPI000000DA9E	SNV	CRLF1,stop_gained,p.Lys93Ter,ENST00000597131,;CRLF1,stop_gained,p.Lys271Ter,ENST00000392386,;C19orf60,downstream_gene_variant,,ENST00000358607,;C19orf60,downstream_gene_variant,,ENST00000450195,;C19orf60,downstream_gene_variant,,ENST00000595490,;CRLF1,upstream_gene_variant,,ENST00000594325,;CRLF1,downstream_gene_variant,,ENST00000593286,;C19orf60,downstream_gene_variant,,ENST00000601736,;C19orf60,downstream_gene_variant,,ENST00000598375,;CRLF1,upstream_gene_variant,,ENST00000596360,;C19orf60,downstream_gene_variant,,ENST00000595077,;C19orf60,downstream_gene_variant,,ENST00000597371,;C19orf60,downstream_gene_variant,,ENST00000600997,;	1005	81	51	SUCCESS
ZNF99	7652	.	GRCh37	19	22941187	22941187	+	synonymous_variant	Silent	SNP	A	A	G	rs769321352	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	25	0	ENST00000596209.1:c.1524T>C	p.Pro508=	p.P508=	ENST00000596209	NM_001080409.2	508	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS59369.1	1524	MUTECT|VARSCANS	.	TTGCAAGGTTT	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157,Low_complexity_(Seg):seg	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	rs769321352,COSM710659	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,synonymous_variant,p.%3D,ENST00000397104,;ZNF99,synonymous_variant,p.%3D,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	1615	25	32	SUCCESS
PAPL	0	.	GRCh37	19	39591841	39591841	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	15	0	ENST00000331256.5:c.967A>G	p.Lys323Glu	p.K323E	ENST00000331256	NM_001004318.2	323	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS33018.1	967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAAATAT	NONE	.	.	hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Gene3D:3.60.21.10,Pfam_domain:PF00149,Superfamily_domains:SSF56300	.	.	ENSP00000327557	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000331256	Transcript	.	.	ENSG00000183760	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.42)	.	PAPL_HUMAN	PAPL	Uniprot_gn	.	.	UPI000041AA68	SNV	PAPL,missense_variant,p.Lys182Glu,ENST00000601531,;PAPL,missense_variant,p.Lys323Glu,ENST00000331256,;PAPL,synonymous_variant,p.%3D,ENST00000594229,;PAPL,synonymous_variant,p.%3D,ENST00000601575,;	1241	15	38	SUCCESS
SPTBN4	57731	.	GRCh37	19	41072191	41072191	+	synonymous_variant	Silent	SNP	C	C	A	rs146550558	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	32	0	ENST00000352632.3:c.6262C>A	p.Arg2088=	p.R2088=	ENST00000352632		2088	Cgg/Agg	0	T:0.0005	.	.	.	.	A	R	protein_coding	YES	CCDS12559.1	6262	RADIA|VARSCANS	.	TTATCCGGCGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	T:0	ENSP00000263373	.	30/36	.	.	.	.	.	.	.	.	rs146550558	30/36	oxog	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,synonymous_variant,p.%3D,ENST00000338932,;SPTBN4,synonymous_variant,p.%3D,ENST00000352632,;SPTBN4,synonymous_variant,p.%3D,ENST00000598249,;SPTBN4,synonymous_variant,p.%3D,ENST00000392025,;SPTBN4,upstream_gene_variant,,ENST00000599926,;SPTBN4,upstream_gene_variant,,ENST00000593816,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;	6348	32	38	SUCCESS
ARHGAP35	2909	.	GRCh37	19	47422780	47422780	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779738931	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	21	0	ENST00000404338.3:c.848G>A	p.Arg283His	p.R283H	ENST00000404338	NM_004491.4	283	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS46127.1	848	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGCATTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51676,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26,SMART_domains:SM00441	.	.	ENSP00000385720	.	1/6	.	.	.	.	.	.	.	.	rs779738931	1/6	PASS	ENST00000404338	Transcript	.	.	ENSG00000160007	4591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.35)	.	RHG35_HUMAN	ARHGAP35	HGNC	.	.	UPI0000163F71	SNV	ARHGAP35,missense_variant,p.Arg283His,ENST00000404338,;	848	21	17	SUCCESS
CABP5	56344	.	GRCh37	19	48537600	48537600	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	23	0	ENST00000293255.2:c.368G>T	p.Gly123Val	p.G123V	ENST00000293255	NM_019855.4	123	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12709.1	368	RADIA|VARSCANS	.	TCTCCCCATCT	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF60,hmmpanther:PTHR23050,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000293255	.	5/6	.	.	.	.	.	.	.	.	.	5/6	oxog	ENST00000293255	Transcript	.	.	ENSG00000105507	13714	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CABP5_HUMAN	CABP5	HGNC	.	.	UPI0000126D6A	SNV	CABP5,missense_variant,p.Gly123Val,ENST00000293255,;	499	23	30	SUCCESS
KLK2	3817	.	GRCh37	19	51379981	51379981	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs572630957	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	13	0	ENST00000325321.3:c.460G>A	p.Ala154Thr	p.A154T	ENST00000325321		154	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12808.1	460	RADIA|MUSE|VARSCANS	.	GCTACGCCTCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF15,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000313581	.	3/5	.	.	.	.	.	.	.	.	rs572630957	3/5	PASS	ENST00000325321	Transcript	.	.	ENSG00000167751	6363	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.364)	.	tolerated(0.21)	.	KLK2_HUMAN	KLK2	HGNC	M0R2W5_HUMAN,M0R1T3_HUMAN,M0R0M4_HUMAN,B0AZU9_HUMAN	.	UPI000004CA0C	SNV	KLK2,missense_variant,p.Ala154Thr,ENST00000325321,;KLK2,missense_variant,p.Ala154Thr,ENST00000358049,;KLK2,missense_variant,p.Ala52Thr,ENST00000391810,;KLK2,missense_variant,p.Arg95His,ENST00000600690,;AC037199.1,upstream_gene_variant,,ENST00000594218,;KLK2,downstream_gene_variant,,ENST00000599568,;KLK2,downstream_gene_variant,,ENST00000593493,;KLK2,non_coding_transcript_exon_variant,,ENST00000596950,;KLK2,downstream_gene_variant,,ENST00000597509,;KLK2,missense_variant,p.Ala43Thr,ENST00000595050,;KLK2,missense_variant,p.Ala154Thr,ENST00000597439,;KLK2,3_prime_UTR_variant,,ENST00000595316,;KLK2,3_prime_UTR_variant,,ENST00000594174,;KLK2,3_prime_UTR_variant,,ENST00000599121,;KLK2,3_prime_UTR_variant,,ENST00000597727,;KLK2,non_coding_transcript_exon_variant,,ENST00000600755,;KLK2,non_coding_transcript_exon_variant,,ENST00000600866,;KLK2,non_coding_transcript_exon_variant,,ENST00000599280,;KLK2,non_coding_transcript_exon_variant,,ENST00000601114,;KLK2,non_coding_transcript_exon_variant,,ENST00000595173,;KLK2,upstream_gene_variant,,ENST00000597911,;KLK2,downstream_gene_variant,,ENST00000601743,;KLK2,downstream_gene_variant,,ENST00000595375,;KLK2,upstream_gene_variant,,ENST00000597461,;	685	13	21	SUCCESS
ZNF419	79744	.	GRCh37	19	58004285	58004285	+	synonymous_variant	Silent	SNP	C	C	T	rs1167245214	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	70	0	ENST00000221735.7:c.360C>T	p.Leu120=	p.L120=	ENST00000221735		120	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54325.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCAGTTC	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF195	.	.	ENSP00000388864	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000424930	Transcript	.	.	ENSG00000105136	20648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN419_HUMAN	ZNF419	HGNC	.	.	UPI0000E04CBA	SNV	ZNF419,synonymous_variant,p.%3D,ENST00000442920,;ZNF419,synonymous_variant,p.%3D,ENST00000221735,;ZNF419,synonymous_variant,p.%3D,ENST00000521754,;ZNF419,synonymous_variant,p.%3D,ENST00000415379,;ZNF419,synonymous_variant,p.%3D,ENST00000521137,;ZNF419,synonymous_variant,p.%3D,ENST00000347466,;ZNF419,synonymous_variant,p.%3D,ENST00000354197,;ZNF419,synonymous_variant,p.%3D,ENST00000424930,;ZNF419,synonymous_variant,p.%3D,ENST00000519310,;ZNF419,synonymous_variant,p.%3D,ENST00000426954,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000599674,;AC003005.4,intron_variant,,ENST00000601674,;	592	70	114	SUCCESS
ZNF134	7693	.	GRCh37	19	58132394	58132399	+	inframe_deletion	In_Frame_Del	DEL	CTTGTT	CTTGTT	-	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	CTTGTT	CTTGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	28	0	ENST00000396161.5:c.908_913del	p.Leu303_Val304del	p.L303_V304del	ENST00000396161	NM_003435.3	303	CTTGTT/-	0	.	.	.	.	.	-	LV/-	protein_coding	YES	CCDS42638.1	907-912	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTACACTTGTTCAGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24399:SF4,hmmpanther:PTHR24399,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379464	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396161	Transcript	.	.	ENSG00000213762	12918	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN134_HUMAN	ZNF134	HGNC	M0QXC7_HUMAN	.	UPI0000071FFE	deletion	ZNF134,inframe_deletion,p.Leu303_Val304del,ENST00000396161,;ZNF134,downstream_gene_variant,,ENST00000600883,;ZNF134,downstream_gene_variant,,ENST00000600344,;AC003682.16,upstream_gene_variant,,ENST00000599190,;ZNF134,downstream_gene_variant,,ENST00000597975,;	1217-1222	28	37	SUCCESS
ZNF256	10172	.	GRCh37	19	58453498	58453498	+	synonymous_variant	Silent	SNP	A	A	G	rs962502572	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	64	0	ENST00000282308.3:c.678T>C	p.Arg226=	p.R226=	ENST00000282308	NM_005773.2	226	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS12966.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACACGTAC	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,Superfamily_domains:SSF57667	.	.	ENSP00000282308	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282308	Transcript	.	.	ENSG00000152454	13049	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN256_HUMAN	ZNF256	HGNC	.	.	UPI00001D69EC	SNV	ZNF256,synonymous_variant,p.%3D,ENST00000282308,;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	875	64	109	SUCCESS
MUC16	94025	.	GRCh37	19	9057886	9057886	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777355694	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	88	0	ENST00000397910.4:c.29560G>C	p.Val9854Leu	p.V9854L	ENST00000397910	NM_024690.2	9854	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS54212.1	29560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACAGTGG	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs777355694,COSM3363096,COSM3363095	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	unknown(0)	.	.	0,1,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Val9854Leu,ENST00000397910,;	29764	88	85	SUCCESS
PRMT6	55170	.	GRCh37	1	107599362	107599362	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs539124873	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	36	0	ENST00000370078.1:c.25C>T	p.Leu9Phe	p.L9F	ENST00000370078		9	Ctt/Ttt	0	.	G:0.003	.	G:0	.	T	L/F	protein_coding	YES	CCDS41360.2	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGCTTGAG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11006:SF50,hmmpanther:PTHR11006	G:0	.	ENSP00000359095	G:0	1/1	.	.	.	.	.	.	.	.	rs539124873	1/1	PASS	ENST00000370078	Transcript	.	G:0.0008	ENSG00000198890	18241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	G:0	tolerated_low_confidence(0.14)	.	ANM6_HUMAN	PRMT6	HGNC	.	.	UPI000004B63D	SNV	PRMT6,missense_variant,p.Leu9Phe,ENST00000370078,;PRMT6,5_prime_UTR_variant,,ENST00000361318,;	62	36	30	SUCCESS
PRPF38B	55119	.	GRCh37	1	109242492	109242492	+	synonymous_variant	Silent	SNP	T	T	C	rs778732950	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	70	168	0	ENST00000370025.4:c.1491T>C	p.Ser497=	p.S497=	ENST00000370025	NM_018061.2	497	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS788.1	1491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTAGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23142	.	.	ENSP00000359042	.	6/6	.	.	.	.	.	.	.	.	rs778732950	6/6	PASS	ENST00000370025	Transcript	.	.	ENSG00000134186	25512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PR38B_HUMAN	PRPF38B	HGNC	.	.	UPI000013CF13	SNV	PRPF38B,synonymous_variant,p.%3D,ENST00000370021,;PRPF38B,synonymous_variant,p.%3D,ENST00000370025,;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,downstream_gene_variant,,ENST00000485810,;PRPF38B,downstream_gene_variant,,ENST00000467302,;	1760	168	188	SUCCESS
LRIF1	55791	.	GRCh37	1	111494007	111494007	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	39	129	0	ENST00000369763.4:c.1499A>G	p.Lys500Arg	p.K500R	ENST00000369763	NM_018372.3	500	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS30800.1	1499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTTTTCTA	NONE	.	.	hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2	.	.	ENSP00000358778	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000369763	Transcript	.	.	ENSG00000121931	30299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated(0.08)	.	LRIF1_HUMAN	LRIF1	HGNC	.	.	UPI0000205296	SNV	LRIF1,missense_variant,p.Lys500Arg,ENST00000369763,;LRIF1,intron_variant,,ENST00000494675,;LRIF1,intron_variant,,ENST00000485275,;RP11-96K19.2,intron_variant,,ENST00000440689,;	1890	129	115	SUCCESS
VPS13D	55187	.	GRCh37	1	12379555	12379555	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	48	0	ENST00000358136.3:c.7416T>C		p.X2472_splice	ENST00000358136	NM_015378.2	2472	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS30588.1	7416	RADIA|VARSCANS	.	CCAGGTACGGA	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	32/70	.	.	.	.	.	.	.	.	.	32/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,synonymous_variant,p.%3D,ENST00000358136,;VPS13D,synonymous_variant,p.%3D,ENST00000011700,;VPS13D,synonymous_variant,p.%3D,ENST00000356315,;VPS13D,splice_region_variant,,ENST00000460333,;VPS13D,splice_region_variant,,ENST00000487188,;	7546	48	36	SUCCESS
TNFAIP8L2	79626	.	GRCh37	1	151131649	151131649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	21	0	ENST00000368910.3:c.476T>C	p.Leu159Pro	p.L159P	ENST00000368910	NM_024575.4	159	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS985.1	476	RADIA|VARSCANS	.	GGCCCTCTATG	NONE	.	.	Pfam_domain:PF05527,hmmpanther:PTHR12757:SF4,hmmpanther:PTHR12757	.	.	ENSP00000357906	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368910	Transcript	.	.	ENSG00000163154	26277	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TP8L2_HUMAN	TNFAIP8L2	HGNC	.	.	UPI00000373B5	SNV	TNFAIP8L2,missense_variant,p.Leu159Pro,ENST00000368910,;SCNM1,intron_variant,,ENST00000602841,;LYSMD1,downstream_gene_variant,,ENST00000440902,;LYSMD1,downstream_gene_variant,,ENST00000368908,;	602	21	27	SUCCESS
NUP210L	91181	.	GRCh37	1	154042865	154042865	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	42	110	0	ENST00000368559.3:c.2438T>C	p.Phe813Ser	p.F813S	ENST00000368559	NM_207308.2	813	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS41399.1	2438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGAAATTA	NONE	.	.	hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	17/40	.	.	.	.	.	.	.	.	.	17/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,missense_variant,p.Phe813Ser,ENST00000368559,;NUP210L,missense_variant,p.Phe813Ser,ENST00000271854,;	2510	110	132	SUCCESS
LMNA	4000	.	GRCh37	1	156106182	156106182	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	46	0	ENST00000368300.4:c.1335G>T	p.Val445=	p.V445=	ENST00000368300	NM_170707.3	445	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1129.1	1335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTGGATGA	NONE	.	.	hmmpanther:PTHR23239:SF158,hmmpanther:PTHR23239,Gene3D:2.60.40.1260,Pfam_domain:PF00932,Superfamily_domains:SSF74853	.	.	ENSP00000357283	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000368300	Transcript	.	.	ENSG00000160789	6636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMNA_HUMAN	LMNA	HGNC	Q5I6Y5_HUMAN	.	UPI000012E20D	SNV	LMNA,synonymous_variant,p.%3D,ENST00000392353,;LMNA,synonymous_variant,p.%3D,ENST00000368299,;LMNA,synonymous_variant,p.%3D,ENST00000347559,;LMNA,synonymous_variant,p.%3D,ENST00000368301,;LMNA,synonymous_variant,p.%3D,ENST00000473598,;LMNA,synonymous_variant,p.%3D,ENST00000368297,;LMNA,synonymous_variant,p.%3D,ENST00000508500,;LMNA,synonymous_variant,p.%3D,ENST00000448611,;LMNA,synonymous_variant,p.%3D,ENST00000361308,;LMNA,synonymous_variant,p.%3D,ENST00000368300,;LMNA,downstream_gene_variant,,ENST00000504687,;LMNA,non_coding_transcript_exon_variant,,ENST00000459904,;LMNA,non_coding_transcript_exon_variant,,ENST00000496738,;LMNA,downstream_gene_variant,,ENST00000502357,;LMNA,downstream_gene_variant,,ENST00000502751,;LMNA,downstream_gene_variant,,ENST00000470199,;LMNA,downstream_gene_variant,,ENST00000469565,;LMNA,non_coding_transcript_exon_variant,,ENST00000498722,;LMNA,non_coding_transcript_exon_variant,,ENST00000368298,;LMNA,upstream_gene_variant,,ENST00000506981,;LMNA,downstream_gene_variant,,ENST00000515824,;LMNA,downstream_gene_variant,,ENST00000515459,;	1547	46	57	SUCCESS
LMNA	4000	.	GRCh37	1	156106183	156106183	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	46	0	ENST00000368300.4:c.1336G>A	p.Asp446Asn	p.D446N	ENST00000368300	NM_170707.3	446	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1129.1	1336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGATGAG	NONE	.	.	hmmpanther:PTHR23239:SF158,hmmpanther:PTHR23239,Gene3D:2.60.40.1260,Pfam_domain:PF00932,Superfamily_domains:SSF74853	.	.	ENSP00000357283	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000368300	Transcript	.	.	ENSG00000160789	6636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0.02)	.	LMNA_HUMAN	LMNA	HGNC	Q5I6Y5_HUMAN	.	UPI000012E20D	SNV	LMNA,missense_variant,p.Asp365Asn,ENST00000392353,;LMNA,missense_variant,p.Asp446Asn,ENST00000368299,;LMNA,missense_variant,p.Asp446Asn,ENST00000347559,;LMNA,missense_variant,p.Asp446Asn,ENST00000368301,;LMNA,missense_variant,p.Asp347Asn,ENST00000473598,;LMNA,missense_variant,p.Asp365Asn,ENST00000368297,;LMNA,missense_variant,p.Asp72Asn,ENST00000508500,;LMNA,missense_variant,p.Asp334Asn,ENST00000448611,;LMNA,missense_variant,p.Asp446Asn,ENST00000361308,;LMNA,missense_variant,p.Asp446Asn,ENST00000368300,;LMNA,downstream_gene_variant,,ENST00000504687,;LMNA,non_coding_transcript_exon_variant,,ENST00000459904,;LMNA,non_coding_transcript_exon_variant,,ENST00000496738,;LMNA,downstream_gene_variant,,ENST00000502357,;LMNA,downstream_gene_variant,,ENST00000502751,;LMNA,downstream_gene_variant,,ENST00000470199,;LMNA,downstream_gene_variant,,ENST00000469565,;LMNA,non_coding_transcript_exon_variant,,ENST00000498722,;LMNA,non_coding_transcript_exon_variant,,ENST00000368298,;LMNA,upstream_gene_variant,,ENST00000506981,;LMNA,downstream_gene_variant,,ENST00000515824,;LMNA,downstream_gene_variant,,ENST00000515459,;	1548	46	56	SUCCESS
NUF2	83540	.	GRCh37	1	163325198	163325198	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755556279	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	56	187	0	ENST00000271452.3:c.1334A>G	p.Tyr445Cys	p.Y445C	ENST00000271452	NM_145697.2	445	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1245.1	1334	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATGCTA	NONE	.	.	hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF2	.	.	ENSP00000271452	.	14/14	.	.	.	.	.	.	.	.	rs755556279	14/14	PASS	ENST00000271452	Transcript	.	.	ENSG00000143228	14621	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.24)	.	NUF2_HUMAN	NUF2	HGNC	E9PKH1_HUMAN,B1AQT4_HUMAN,B1AQT3_HUMAN	.	UPI000006D211	SNV	NUF2,missense_variant,p.Tyr445Cys,ENST00000367900,;NUF2,missense_variant,p.Tyr398Cys,ENST00000524800,;NUF2,missense_variant,p.Tyr445Cys,ENST00000271452,;	1613	187	242	SUCCESS
ADCY10	55811	.	GRCh37	1	167802265	167802267	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	GAA	GAA	.	.	.	.	.	.	.	.	.	.	.	.	.	82	26	71	0	ENST00000367851.4:c.3551_3553del	p.Phe1184_His1185delinsTyr	p.F1184_H1185delinsY	ENST00000367851	NM_018417.4	1184	tTTCat/tat	0	.	.	.	.	.	-	FH/Y	protein_coding	YES	CCDS1265.1	3551-3553	VARSCANI*|PINDEL	.	CATAATGAAAGTGT	NONE	.	.	hmmpanther:PTHR16305:SF23,hmmpanther:PTHR16305,PIRSF_domain:PIRSF011131	.	.	ENSP00000356825	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000367851	Transcript	.	.	ENSG00000143199	21285	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADCYA_HUMAN	ADCY10	HGNC	.	.	UPI0000204D00	deletion	ADCY10,inframe_deletion,p.Phe1031_His1032delinsTyr,ENST00000545172,;ADCY10,inframe_deletion,p.Phe1184_His1185delinsTyr,ENST00000367851,;ADCY10,inframe_deletion,p.Phe1092_His1093delinsTyr,ENST00000367848,;ADCY10,3_prime_UTR_variant,,ENST00000485964,;	3736-3738	71	108	SUCCESS
FMOD	2331	.	GRCh37	1	203317394	203317394	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs146564523	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	19	0	ENST00000354955.4:c.5A>G	p.Gln2Arg	p.Q2R	ENST00000354955	NM_002023.4	2	cAg/cGg	0	C:0	C:0	.	C:0	.	C	Q/R	protein_coding	YES	CCDS30976.1	5	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TCCACTGCATT	NONE	byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM	C:0	C:0.0006	ENSP00000347041	C:0.001	2/3	.	.	.	.	.	.	.	.	rs146564523	2/3	PASS	ENST00000354955	Transcript	.	C:0.0002	ENSG00000122176	3774	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	C:0	tolerated_low_confidence(0.85)	.	FMOD_HUMAN	FMOD	HGNC	Q12833_HUMAN,B4E1J3_HUMAN	.	UPI00000746A2	SNV	FMOD,missense_variant,p.Gln2Arg,ENST00000354955,;FMOD,intron_variant,,ENST00000493296,;FMOD,intron_variant,,ENST00000461936,;	469	19	15	SUCCESS
SLC30A1	7779	.	GRCh37	1	211751520	211751520	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	26	0	ENST00000367001.4:c.435C>G	p.Gly145=	p.G145=	ENST00000367001	NM_021194.2	145	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS1499.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGCCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297	.	.	ENSP00000355968	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	SNV	SLC30A1,synonymous_variant,p.%3D,ENST00000367001,;RP11-359E8.5,downstream_gene_variant,,ENST00000567907,;	565	26	16	SUCCESS
ZBTB40	9923	.	GRCh37	1	22838470	22838470	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	61	0	ENST00000375647.4:c.2304T>A	p.Cys768Ter	p.C768*	ENST00000375647	NM_014870.3	768	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS224.1	2304	RADIA|VARSCANS	.	CAGTGTAAGGA	NONE	.	.	hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394,SMART_domains:SM00355	.	.	ENSP00000384527	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,stop_gained,p.Cys768Ter,ENST00000404138,;ZBTB40,stop_gained,p.Cys768Ter,ENST00000375647,;ZBTB40,stop_gained,p.Cys656Ter,ENST00000374651,;	2815	61	35	SUCCESS
ARID1A	8289	.	GRCh37	1	27101342	27101342	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	31	73	0	ENST00000324856.7:c.4624G>T	p.Glu1542Ter	p.E1542*	ENST00000324856	NM_006015.4	1542	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS285.1	4624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGAAGGC	BUFFER|p.W1545*|c.4635G>A|3	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	18/20	.	.	.	.	.	.	.	.	COSM51483	18/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,stop_gained,p.Glu1159Ter,ENST00000374152,;ARID1A,stop_gained,p.Glu439Ter,ENST00000430799,;ARID1A,stop_gained,p.Glu1542Ter,ENST00000324856,;ARID1A,intron_variant,,ENST00000457599,;ARID1A,intron_variant,,ENST00000540690,;ARID1A,intron_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;	4995	73	45	SUCCESS
AKIRIN1	79647	.	GRCh37	1	39463936	39463936	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781305153	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	20	59	0	ENST00000432648.3:c.314C>T	p.Ser105Leu	p.S105L	ENST00000432648	NM_024595.2	105	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS433.1	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCGGAAA	NONE	byFrequency	.	hmmpanther:PTHR13293,hmmpanther:PTHR13293:SF9	.	.	ENSP00000392678	.	2/5	.	.	.	.	.	.	.	.	rs781305153	2/5	PASS	ENST00000432648	Transcript	.	.	ENSG00000174574	25744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.16)	.	AKIR1_HUMAN	AKIRIN1	HGNC	.	.	UPI000007221D	SNV	AKIRIN1,missense_variant,p.Ser105Leu,ENST00000446189,;AKIRIN1,missense_variant,p.Ser105Leu,ENST00000432648,;AKIRIN1,missense_variant,p.Ser67Leu,ENST00000531822,;AKIRIN1,intron_variant,,ENST00000372984,;	472	59	32	SUCCESS
TCEANC2	127428	.	GRCh37	1	54561960	54561960	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	61	0	ENST00000234827.1:c.441G>T	p.Met147Ile	p.M147I	ENST00000234827	NM_153035.1	147	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS587.1	441	RADIA|VARSCANS	.	TAGATGGATCA	NONE	.	.	PROSITE_profiles:PS51321,hmmpanther:PTHR11477,Pfam_domain:PF07500,Gene3D:1enwA00,Superfamily_domains:0037100	.	.	ENSP00000234827	.	5/5	.	.	.	.	.	.	.	.	.	5/5	oxog	ENST00000234827	Transcript	.	.	ENSG00000116205	26494	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.26)	.	TEAN2_HUMAN	TCEANC2	HGNC	.	.	UPI0000073C98	SNV	TCEANC2,missense_variant,p.Met177Ile,ENST00000371331,;TCEANC2,missense_variant,p.Met147Ile,ENST00000234827,;TCEANC2,splice_region_variant,,ENST00000498272,;AL353898.3,downstream_gene_variant,,ENST00000422908,;	641	61	33	SUCCESS
KIAA1755	85449	.	GRCh37	20	36874514	36874514	+	synonymous_variant	Silent	SNP	G	G	A	rs757306792	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	26	0	ENST00000279024.4:c.18C>T	p.Leu6=	p.L6=	ENST00000279024	NM_001029864.1	6	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33467.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGAGGGA	NONE	.	.	hmmpanther:PTHR22826:SF114,hmmpanther:PTHR22826	.	.	ENSP00000279024	.	2/14	.	.	.	.	.	.	.	.	rs757306792	2/14	PASS	ENST00000279024	Transcript	.	.	ENSG00000149633	29372	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1755_HUMAN	KIAA1755	HGNC	.	.	UPI000041AADF	SNV	KIAA1755,synonymous_variant,p.%3D,ENST00000279024,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000496900,;	290	26	26	SUCCESS
GPCPD1	56261	.	GRCh37	20	5579378	5579378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	69	0	ENST00000379019.4:c.139G>A	p.Gly47Ser	p.G47S	ENST00000379019	NM_019593.3	47	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13090.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACCTGTGT	NONE	.	.	Superfamily_domains:SSF49452,SMART_domains:SM01065,Gene3D:2.60.40.10,Pfam_domain:PF00686,hmmpanther:PTHR22958,PROSITE_profiles:PS51166	.	.	ENSP00000368305	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000379019	Transcript	.	.	ENSG00000125772	26957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.32)	.	GPCP1_HUMAN	GPCPD1	HGNC	D3DW07_HUMAN	.	UPI0000062241	SNV	GPCPD1,missense_variant,p.Gly47Ser,ENST00000379019,;GPCPD1,non_coding_transcript_exon_variant,,ENST00000481690,;	352	69	76	SUCCESS
POTEH	23784	.	GRCh37	22	16287313	16287313	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	219	48	288	0	ENST00000343518.6:c.573A>G	p.Arg191=	p.R191=	ENST00000343518	NM_001136213.1	191	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46658.1	573	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTTCTGGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000340610	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,synonymous_variant,p.%3D,ENST00000343518,;POTEH,synonymous_variant,p.%3D,ENST00000452800,;	625	288	267	SUCCESS
CLTCL1	8218	.	GRCh37	22	19168279	19168279	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	48	0	ENST00000427926.1:c.4868A>T	p.Glu1623Val	p.E1623V	ENST00000427926		1623	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46662.1	4868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTCTTGC	NONE	.	.	hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Gene3D:1.25.40.10,PIRSF_domain:PIRSF002290	.	.	ENSP00000445677	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000263200	Transcript	.	.	ENSG00000070371	2093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.29)	.	deleterious(0.01)	.	CLH2_HUMAN	CLTCL1	HGNC	.	.	UPI0000127ABE	SNV	CLTCL1,missense_variant,p.Glu1623Val,ENST00000427926,;CLTCL1,missense_variant,p.Glu1566Val,ENST00000353891,;CLTCL1,missense_variant,p.Glu1623Val,ENST00000263200,;SLC25A1,upstream_gene_variant,,ENST00000215882,;SLC25A1,upstream_gene_variant,,ENST00000451283,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000536806,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000442042,;SLC25A1,upstream_gene_variant,,ENST00000461267,;SLC25A1,upstream_gene_variant,,ENST00000468824,;CLTCL1,3_prime_UTR_variant,,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000412649,;CLTCL1,downstream_gene_variant,,ENST00000538828,;SLC25A1,upstream_gene_variant,,ENST00000470922,;	4941	48	55	SUCCESS
SH3BP1	23616	.	GRCh37	22	38040647	38040647	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs774890820	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	43	0	ENST00000357436.4:c.622G>T	p.Glu208Ter	p.E208*	ENST00000357436	NM_018957.3	208	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13952.2	622	RADIA|VARSCANS	.	AGGACGAGTAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51021,hmmpanther:PTHR14130:SF12,hmmpanther:PTHR14130,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000350018	.	8/18	.	.	.	.	.	.	.	.	rs774890820	8/18	PASS	ENST00000357436	Transcript	.	.	ENSG00000100092	10824	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	3BP1_HUMAN	SH3BP1	HGNC	F8WEQ3_HUMAN	.	UPI000004EE00	SNV	SH3BP1,stop_gained,p.Glu208Ter,ENST00000336738,;SH3BP1,stop_gained,p.Glu144Ter,ENST00000599616,;SH3BP1,stop_gained,p.Glu208Ter,ENST00000442465,;SH3BP1,stop_gained,p.Glu208Ter,ENST00000357436,;Z83844.1,intron_variant,,ENST00000456099,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000495174,;SH3BP1,stop_gained,p.Glu208Ter,ENST00000417536,;SH3BP1,3_prime_UTR_variant,,ENST00000451997,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000459646,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000469947,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000471650,;SH3BP1,upstream_gene_variant,,ENST00000466097,;	935	43	38	SUCCESS
CHST10	9486	.	GRCh37	2	101014572	101014572	+	synonymous_variant	Silent	SNP	G	G	A	rs766638550	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	23	0	ENST00000264249.3:c.225C>T	p.Leu75=	p.L75=	ENST00000264249	NM_004854.4	75	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2047.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACGAGCTG	NONE	byFrequency	.	hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF2	.	.	ENSP00000264249	.	5/7	.	.	.	.	.	.	.	.	rs766638550,COSM3564278,COSM3564279	5/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,synonymous_variant,p.%3D,ENST00000420858,;CHST10,synonymous_variant,p.%3D,ENST00000448989,;CHST10,synonymous_variant,p.%3D,ENST00000409046,;CHST10,synonymous_variant,p.%3D,ENST00000542617,;CHST10,synonymous_variant,p.%3D,ENST00000264249,;CHST10,synonymous_variant,p.%3D,ENST00000409701,;CHST10,synonymous_variant,p.%3D,ENST00000421474,;CHST10,downstream_gene_variant,,ENST00000418201,;CHST10,non_coding_transcript_exon_variant,,ENST00000484382,;	611	23	25	SUCCESS
IL18R1	8809	.	GRCh37	2	102988510	102988510	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	178	0	ENST00000233957.1:c.400A>C	p.Lys134Gln	p.K134Q	ENST00000233957	NM_003855.2	134	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS2060.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAAATTT	BUFFER|p.F135I|c.403T>A|3	.	.	SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11890:SF6,hmmpanther:PTHR11890	.	.	ENSP00000387211	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000409599	Transcript	.	.	ENSG00000115604	5988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0.02)	.	IL18R_HUMAN	IL18R1	HGNC	B7ZKV7_HUMAN	.	UPI000012D871	SNV	IL18R1,missense_variant,p.Lys134Gln,ENST00000409599,;IL18R1,missense_variant,p.Lys134Gln,ENST00000410040,;IL18R1,missense_variant,p.Lys134Gln,ENST00000334376,;IL18R1,missense_variant,p.Lys134Gln,ENST00000233957,;	756	178	162	SUCCESS
CHRNA1	1134	.	GRCh37	2	175618126	175618126	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	22	0	ENST00000261007.5:c.853+105C>T		p.*285*	ENST00000261007	NM_001039523.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33331.1	.	MUTECT|MUSE	.	GTTCGGGTCGA	NONE	.	.	.	.	.	ENSP00000261007	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261007	Transcript	.	.	ENSG00000138435	1955	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHA_HUMAN	CHRNA1	HGNC	A9X444_HUMAN	.	UPI000012524E	SNV	CHRNA1,3_prime_UTR_variant,,ENST00000409323,;CHRNA1,intron_variant,,ENST00000409542,;CHRNA1,intron_variant,,ENST00000409219,;CHRNA1,intron_variant,,ENST00000348749,;CHRNA1,intron_variant,,ENST00000261007,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,intron_variant,,ENST00000435083,;	.	22	23	SUCCESS
ZNF804A	91752	.	GRCh37	2	185800964	185800964	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	23	0	ENST00000302277.6:c.841C>T	p.Pro281Ser	p.P281S	ENST00000302277	NM_194250.1	281	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2291.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACCAGAG	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.78)	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.Pro281Ser,ENST00000302277,;	1435	23	42	SUCCESS
PLCL1	5334	.	GRCh37	2	198950752	198950752	+	synonymous_variant	Silent	SNP	G	G	A	rs1045149769	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	115	0	ENST00000428675.1:c.2511G>A	p.Glu837=	p.E837=	ENST00000428675	NM_006226.3	837	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2326.2	2511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGCACGT	BUFFER|p.H740H|c.2220C>T|3,BUFFER|p.V839I|c.2515G>A|3,BUFFER|p.V741I|c.2221G>A|3	.	.	hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000402861	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,synonymous_variant,p.%3D,ENST00000487695,;PLCL1,synonymous_variant,p.%3D,ENST00000428675,;PLCL1,synonymous_variant,p.%3D,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	2909	115	104	SUCCESS
OBSL1	23363	.	GRCh37	2	220422130	220422130	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	8	0	ENST00000404537.1:c.4001G>A	p.Gly1334Glu	p.G1334E	ENST00000404537	NM_015311.2	1334	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS46520.1	4001	MUTECT|MUSE	.	CGTCCCCGCTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385636	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.71)	.	tolerated(0.85)	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,missense_variant,p.Gly1334Glu,ENST00000603926,;OBSL1,missense_variant,p.Gly1242Glu,ENST00000265318,;OBSL1,missense_variant,p.Gly1334Glu,ENST00000404537,;OBSL1,intron_variant,,ENST00000456147,;OBSL1,intron_variant,,ENST00000373876,;OBSL1,intron_variant,,ENST00000604031,;OBSL1,intron_variant,,ENST00000265317,;OBSL1,downstream_gene_variant,,ENST00000289656,;OBSL1,downstream_gene_variant,,ENST00000373873,;RP11-256I23.2,upstream_gene_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000489804,;OBSL1,upstream_gene_variant,,ENST00000596474,;	4058	8	8	SUCCESS
GCKR	2646	.	GRCh37	2	27721133	27721133	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	40	0	ENST00000264717.2:c.297G>T	p.Gly99=	p.G99=	ENST00000264717	NM_001486.3	99	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1757.1	297	RADIA|VARSCANS	.	GATGGGGGGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51464,hmmpanther:PTHR10088,Gene3D:3.40.50.10490,Superfamily_domains:SSF53697	.	.	ENSP00000264717	.	4/19	.	.	.	.	.	.	.	.	.	4/19	oxog	ENST00000264717	Transcript	.	.	ENSG00000084734	4196	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GCKR_HUMAN	GCKR	HGNC	F5H1P6_HUMAN	.	UPI000013D55B	SNV	GCKR,synonymous_variant,p.%3D,ENST00000453813,;GCKR,synonymous_variant,p.%3D,ENST00000264717,;GCKR,5_prime_UTR_variant,,ENST00000424318,;FNDC4,upstream_gene_variant,,ENST00000264703,;GCKR,synonymous_variant,p.%3D,ENST00000417872,;GCKR,non_coding_transcript_exon_variant,,ENST00000472290,;FNDC4,upstream_gene_variant,,ENST00000476197,;FNDC4,upstream_gene_variant,,ENST00000491414,;	360	40	36	SUCCESS
FOSL2	2355	.	GRCh37	2	28626982	28626982	+	synonymous_variant	Silent	SNP	G	G	T	rs200198308	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	32	0	ENST00000264716.4:c.111G>T	p.Arg37=	p.R37=	ENST00000264716	NM_005253.3	37	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1766.1	111	RADIA|VARSCANS	.	TTCCGGGTAGA	NONE	.	.	hmmpanther:PTHR23351:SF25,hmmpanther:PTHR23351	.	.	ENSP00000264716	.	2/4	.	.	.	.	.	.	.	.	rs200198308	2/4	PASS	ENST00000264716	Transcript	.	.	ENSG00000075426	3798	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOSL2_HUMAN	FOSL2	HGNC	C9JCN8_HUMAN	.	UPI000004F8AB	SNV	FOSL2,synonymous_variant,p.%3D,ENST00000264716,;FOSL2,synonymous_variant,p.%3D,ENST00000379619,;FOSL2,5_prime_UTR_variant,,ENST00000436647,;FOSL2,5_prime_UTR_variant,,ENST00000545753,;FOSL2,non_coding_transcript_exon_variant,,ENST00000460736,;	974	32	40	SUCCESS
ERLEC1	27248	.	GRCh37	2	54014501	54014501	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	24	0	ENST00000185150.4:c.154T>C	p.Phe52Leu	p.F52L	ENST00000185150	NM_015701.4	52	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1848.1	154	RADIA|VARSCANS	.	CCGAGTTCTCT	NONE	.	.	hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0	.	.	ENSP00000185150	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000185150	Transcript	.	.	ENSG00000068912	25222	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.78)	.	ERLEC_HUMAN	ERLEC1	HGNC	.	.	UPI00000373C1	SNV	ERLEC1,missense_variant,p.Phe52Leu,ENST00000185150,;ERLEC1,missense_variant,p.Phe52Leu,ENST00000378239,;ERLEC1,missense_variant,p.Phe52Leu,ENST00000405123,;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,;GPR75-ASB3,upstream_gene_variant,,ENST00000394717,;GPR75-ASB3,upstream_gene_variant,,ENST00000263634,;GPR75-ASB3,upstream_gene_variant,,ENST00000406687,;ERLEC1,non_coding_transcript_exon_variant,,ENST00000494373,;GPR75-ASB3,intron_variant,,ENST00000414369,;ASB3,intron_variant,,ENST00000459916,;ASB3,intron_variant,,ENST00000498475,;GPR75-ASB3,upstream_gene_variant,,ENST00000470916,;	285	24	25	SUCCESS
PUS10	150962	.	GRCh37	2	61238007	61238007	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	25	0	ENST00000316752.6:c.126+893A>T		p.*42*	ENST00000316752	NM_144709.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1865.1	.	RADIA|VARSCANS	.	CTCTGTATCTC	NONE	.	.	.	.	.	ENSP00000326003	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316752	Transcript	.	.	ENSG00000162927	26505	.	.	MODIFIER	2/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PUS10_HUMAN	PUS10	HGNC	C9JNL8_HUMAN	.	UPI000013E1F4	SNV	PUS10,missense_variant,p.Tyr48Phe,ENST00000398658,;PUS10,intron_variant,,ENST00000407787,;PUS10,intron_variant,,ENST00000316752,;PUS10,intron_variant,,ENST00000421319,;PUS10,missense_variant,p.Tyr48Phe,ENST00000430495,;PUS10,intron_variant,,ENST00000602599,;	.	25	35	SUCCESS
TMEM45A	55076	.	GRCh37	3	100295791	100295791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	37	0	ENST00000323523.4:c.757A>G	p.Arg253Gly	p.R253G	ENST00000323523	NM_018004.1	253	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS2937.1	757	RADIA|VARSCANS	.	TTAAGAGGCTC	NONE	.	.	hmmpanther:PTHR16007:SF10,hmmpanther:PTHR16007	.	.	ENSP00000319009	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000323523	Transcript	.	.	ENSG00000181458	25480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.357)	.	deleterious(0)	.	TM45A_HUMAN	TMEM45A	HGNC	.	.	UPI0000039E49	SNV	TMEM45A,missense_variant,p.Arg269Gly,ENST00000403410,;TMEM45A,missense_variant,p.Arg253Gly,ENST00000323523,;TMEM45A,non_coding_transcript_exon_variant,,ENST00000488904,;TMEM45A,non_coding_transcript_exon_variant,,ENST00000489060,;	1070	37	39	SUCCESS
BOC	91653	.	GRCh37	3	112989647	112989647	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	30	0	ENST00000355385.3:c.524-1G>T		p.X175_splice	ENST00000355385	NM_033254.2	175		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2971.1	.	RADIA|VARSCANS	.	CCACAGGTAAC	NONE	.	.	.	.	.	ENSP00000418663	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	HIGH	5/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,splice_acceptor_variant,,ENST00000355385,;BOC,splice_acceptor_variant,,ENST00000495514,;BOC,splice_acceptor_variant,,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000498710,;BOC,splice_acceptor_variant,,ENST00000477178,;BOC,upstream_gene_variant,,ENST00000497495,;BOC,splice_acceptor_variant,,ENST00000471963,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,upstream_gene_variant,,ENST00000479182,;	.	30	35	SUCCESS
STXBP5L	9515	.	GRCh37	3	120876465	120876465	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs371884493	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	62	0	ENST00000273666.6:c.868A>G	p.Ile290Val	p.I290V	ENST00000273666	NM_014980.2	290	Att/Gtt	0	G:0.0005	.	.	.	.	G	I/V	protein_coding	YES	CCDS43137.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAATTCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08366,Superfamily_domains:SSF50978	.	G:0	ENSP00000273666	.	9/28	.	.	.	.	.	.	.	.	rs371884493	9/28	PASS	ENST00000273666	Transcript	.	.	ENSG00000145087	30757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.5)	.	STB5L_HUMAN	STXBP5L	HGNC	C9JUZ7_HUMAN	.	UPI00001C1DEA	SNV	STXBP5L,missense_variant,p.Ile290Val,ENST00000471262,;STXBP5L,missense_variant,p.Ile290Val,ENST00000472879,;STXBP5L,missense_variant,p.Ile290Val,ENST00000273666,;STXBP5L,missense_variant,p.Ile290Val,ENST00000471454,;STXBP5L,missense_variant,p.Ile290Val,ENST00000492541,;STXBP5L,missense_variant,p.Ile290Val,ENST00000497029,;STXBP5L,3_prime_UTR_variant,,ENST00000461772,;	1139	62	47	SUCCESS
PLXNA1	5361	.	GRCh37	3	126737176	126737176	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	32	0	ENST00000393409.2:c.3700C>T	p.Gln1234Ter	p.Q1234*	ENST00000393409	NM_032242.3	1234	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS33847.2	3700	RADIA|VARSCANS	.	CACTGCAGGTG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000377061	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,stop_gained,p.Gln1234Ter,ENST00000393409,;PLXNA1,stop_gained,p.Gln1211Ter,ENST00000251772,;	3700	32	28	SUCCESS
COL6A6	131873	.	GRCh37	3	130282231	130282231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	80	0	ENST00000358511.6:c.384G>T	p.Lys128Asn	p.K128N	ENST00000358511	NM_001102608.1	128	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS46911.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAGAAACA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.538)	.	tolerated(0.09)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Lys128Asn,ENST00000453409,;COL6A6,missense_variant,p.Lys128Asn,ENST00000358511,;	415	80	67	SUCCESS
PIK3R4	30849	.	GRCh37	3	130427320	130427320	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	71	155	0	ENST00000356763.3:c.2348A>T	p.Glu783Val	p.E783V	ENST00000356763	NM_014602.2	783	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3067.1	2348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTCTTCC	NONE	.	.	Low_complexity_(Seg):seg,Gene3D:1.25.10.10,hmmpanther:PTHR17583	.	.	ENSP00000349205	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000356763	Transcript	.	.	ENSG00000196455	8982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.84)	.	PI3R4_HUMAN	PIK3R4	HGNC	D6RJ98_HUMAN,D6RBB7_HUMAN,D6RAC3_HUMAN	.	UPI0000071EF3	SNV	PIK3R4,missense_variant,p.Glu783Val,ENST00000356763,;PIK3R4,missense_variant,p.Glu142Val,ENST00000508273,;	2906	155	184	SUCCESS
NR1D2	9975	.	GRCh37	3	24003754	24003754	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	60	0	ENST00000312521.4:c.804T>C	p.Asn268=	p.N268=	ENST00000312521	NM_005126.4	268	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS33718.1	804	RADIA|MUTECT|VARSCANS	.	TATAATCAAGA	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF112	.	.	ENSP00000310006	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000312521	Transcript	.	.	ENSG00000174738	7963	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NR1D2_HUMAN	NR1D2	HGNC	.	.	UPI0000209A6C	SNV	NR1D2,synonymous_variant,p.%3D,ENST00000312521,;NR1D2,non_coding_transcript_exon_variant,,ENST00000492552,;NR1D2,synonymous_variant,p.%3D,ENST00000383773,;NR1D2,non_coding_transcript_exon_variant,,ENST00000468700,;NR1D2,upstream_gene_variant,,ENST00000472780,;	1123	60	51	SUCCESS
CELSR3	1951	.	GRCh37	3	48680181	48680181	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757360789	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	18	0	ENST00000164024.4:c.8543G>A	p.Arg2848His	p.R2848H	ENST00000164024	NM_001407.2	2848	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS2775.1	8543	SOMATICSNIPER|MUTECT|MUSE	.	AGCTGCGGCCC	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	.	ENSP00000164024	.	30/35	.	.	.	.	.	.	.	.	rs757360789	30/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.18)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Arg2853His,ENST00000544264,;CELSR3,missense_variant,p.Arg2848His,ENST00000164024,;MIR4793,downstream_gene_variant,,ENST00000577502,;CELSR3,non_coding_transcript_exon_variant,,ENST00000461362,;CELSR3,non_coding_transcript_exon_variant,,ENST00000498057,;CELSR3,upstream_gene_variant,,ENST00000470999,;	8824	18	13	SUCCESS
DNASE1L3	1776	.	GRCh37	3	58179116	58179116	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	42	0	ENST00000394549.2:c.755A>G	p.Asn252Ser	p.N252S	ENST00000394549	NM_004944.3	252	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS2886.1	755	RADIA|VARSCANS	.	CACTGTTTGAC	NONE	.	.	hmmpanther:PTHR11371,hmmpanther:PTHR11371:SF21,Gene3D:3.60.10.10,Pfam_domain:PF03372,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219	.	.	ENSP00000316193	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000318316	Transcript	.	.	ENSG00000163687	2959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.12)	.	DNSL3_HUMAN	DNASE1L3	HGNC	C9J9N0_HUMAN,C9J0L2_HUMAN	.	UPI0000129890	SNV	DNASE1L3,missense_variant,p.Asn252Ser,ENST00000483681,;DNASE1L3,missense_variant,p.Asn222Ser,ENST00000486455,;DNASE1L3,missense_variant,p.Asn252Ser,ENST00000318316,;DNASE1L3,missense_variant,p.Asn252Ser,ENST00000394549,;DNASE1L3,intron_variant,,ENST00000477209,;	1240	42	44	SUCCESS
NDST3	9348	.	GRCh37	4	118975959	118975959	+	synonymous_variant	Silent	SNP	A	A	G	rs372361471	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	67	0	ENST00000296499.5:c.894A>G	p.Thr298=	p.T298=	ENST00000296499	NM_004784.2	298	acA/acG	0	G:0	.	.	.	.	G	T	protein_coding	YES	CCDS3708.1	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACATTGTC	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Pfam_domain:PF12062	.	G:0.0001	ENSP00000296499	.	2/14	.	.	.	.	.	.	.	.	rs372361471	2/14	PASS	ENST00000296499	Transcript	.	.	ENSG00000164100	7682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDST3_HUMAN	NDST3	HGNC	.	.	UPI0000071C44	SNV	NDST3,synonymous_variant,p.%3D,ENST00000433996,;NDST3,synonymous_variant,p.%3D,ENST00000296499,;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;	1297	67	63	SUCCESS
EXOC1	55763	.	GRCh37	4	56744128	56744128	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	55	0	ENST00000346134.7:c.1120A>G	p.Thr374Ala	p.T374A	ENST00000346134	NM_018261.3	374	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3502.1	1120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGACTTTA	NONE	.	.	hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19,Pfam_domain:PF09763	.	.	ENSP00000370695	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000381295	Transcript	.	.	ENSG00000090989	30380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.27)	.	EXOC1_HUMAN	EXOC1	HGNC	.	.	UPI000013574F	SNV	EXOC1,missense_variant,p.Thr374Ala,ENST00000381295,;EXOC1,missense_variant,p.Thr374Ala,ENST00000349598,;EXOC1,missense_variant,p.Thr374Ala,ENST00000346134,;EXOC1,upstream_gene_variant,,ENST00000511971,;	1468	55	65	SUCCESS
CENPC	1060	.	GRCh37	4	68396566	68396566	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	56	0	ENST00000273853.6:c.298G>T	p.Val100Phe	p.V100F	ENST00000273853	NM_001812.2	100	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS47063.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAACAAACT	NONE	.	.	hmmpanther:PTHR16684,Pfam_domain:PF15622	.	.	ENSP00000273853	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000273853	Transcript	.	.	ENSG00000145241	1854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.16)	.	CENPC_HUMAN	CENPC	HGNC	.	.	UPI00004135A3	SNV	CENPC,missense_variant,p.Val100Phe,ENST00000273853,;CENPC,missense_variant,p.Val100Phe,ENST00000506882,;CENPC,missense_variant,p.Val7Phe,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;	549	56	57	SUCCESS
PF4V1	5197	.	GRCh37	4	74719566	74719566	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	52	0	ENST00000226524.3:c.167G>A	p.Arg56Lys	p.R56K	ENST00000226524	NM_002620.2	56	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS3561.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGGCACA	NONE	.	.	hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF38,PROSITE_patterns:PS00471,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00436	.	.	ENSP00000226524	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000226524	Transcript	.	.	ENSG00000109272	8862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(1)	.	PF4V_HUMAN	PF4V1	HGNC	.	.	UPI000013171A	SNV	PF4V1,missense_variant,p.Arg56Lys,ENST00000226524,;CXCL6,downstream_gene_variant,,ENST00000503446,;	341	52	50	SUCCESS
CDKL2	8999	.	GRCh37	4	76551045	76551045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	98	0	ENST00000429927.2:c.128T>C	p.Met43Thr	p.M43T	ENST00000429927	NM_003948.3	43	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS3570.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCATTTTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF160,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000412365	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000429927	Transcript	.	.	ENSG00000138769	1782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.52)	.	CDKL2_HUMAN	CDKL2	HGNC	.	.	UPI000006D070	SNV	CDKL2,missense_variant,p.Met43Thr,ENST00000429927,;CDKL2,missense_variant,p.Met43Thr,ENST00000307465,;CDKL2,missense_variant,p.Met43Thr,ENST00000506234,;	832	98	122	SUCCESS
WDFY3	23001	.	GRCh37	4	85663040	85663040	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	79	0	ENST00000295888.4:c.6108A>G	p.Gly2036=	p.G2036=	ENST00000295888	NM_014991.4	2036	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS3609.1	6108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTTCCTCC	NONE	.	.	hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	.	.	ENSP00000295888	.	38/68	.	.	.	.	.	.	.	.	.	38/68	PASS	ENST00000295888	Transcript	.	.	ENSG00000163625	20751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY3_HUMAN	WDFY3	HGNC	D6RJE4_HUMAN,A7E1Z6_HUMAN	.	UPI000013E2C7	SNV	WDFY3,synonymous_variant,p.%3D,ENST00000295888,;WDFY3,synonymous_variant,p.%3D,ENST00000322366,;WDFY3,upstream_gene_variant,,ENST00000504839,;	6516	79	83	SUCCESS
STARD4	134429	.	GRCh37	5	110837675	110837675	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	24	0	ENST00000296632.3:c.267G>T	p.Leu89=	p.L89=	ENST00000296632	NM_139164.1	89	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4104.1	267	RADIA|VARSCANS	.	TTCTCCAGAAT	NONE	.	.	Superfamily_domains:SSF55961,SMART_domains:SM00234,Pfam_domain:PF01852,Gene3D:3.30.530.20,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF46,PROSITE_profiles:PS50848	.	.	ENSP00000296632	.	4/6	.	.	.	.	.	.	.	.	.	4/6	oxog	ENST00000296632	Transcript	.	.	ENSG00000164211	18058	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAR4_HUMAN	STARD4	HGNC	Q86T95_HUMAN,D6RIC8_HUMAN,B0AZS2_HUMAN	.	UPI0000136135	SNV	STARD4,synonymous_variant,p.%3D,ENST00000505803,;STARD4,synonymous_variant,p.%3D,ENST00000502322,;STARD4,synonymous_variant,p.%3D,ENST00000296632,;STARD4,intron_variant,,ENST00000512160,;STARD4,intron_variant,,ENST00000509887,;STARD4,non_coding_transcript_exon_variant,,ENST00000511569,;STARD4,intron_variant,,ENST00000511436,;STARD4,intron_variant,,ENST00000502931,;STARD4,intron_variant,,ENST00000510346,;STARD4,3_prime_UTR_variant,,ENST00000455172,;STARD4,intron_variant,,ENST00000511137,;STARD4,downstream_gene_variant,,ENST00000508215,;	402	24	24	SUCCESS
MATR3	9782	.	GRCh37	5	138643894	138643894	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	49	1	ENST00000394805.3:c.790T>C	p.Ser264Pro	p.S264P	ENST00000394805	NM_001194955.1	264	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS4210.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATCTCTC	NONE	.	.	hmmpanther:PTHR15592	.	.	ENSP00000378284	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000394805	Transcript	1	.	ENSG00000015479	6912	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	tolerated(0.17)	.	MATR3_HUMAN	MATR3	HGNC	Q9H4N1_HUMAN,D6REK4_HUMAN,D6RE02_HUMAN,D6RCM3_HUMAN,D6RBS2_HUMAN,D6RBK5_HUMAN,D6RBI2_HUMAN,D6RB45_HUMAN,D6RAY2_HUMAN,D6RAM9_HUMAN,D6R9F3_HUMAN,D6R991_HUMAN,D6R8Z5_HUMAN,B3KM87_HUMAN	.	UPI0000000DEE	SNV	MATR3,missense_variant,p.Ser264Pro,ENST00000502929,;MATR3,missense_variant,p.Ser264Pro,ENST00000510056,;MATR3,missense_variant,p.Ser264Pro,ENST00000394800,;MATR3,missense_variant,p.Ser264Pro,ENST00000394805,;MATR3,missense_variant,p.Ser264Pro,ENST00000504045,;MATR3,missense_variant,p.Ser264Pro,ENST00000509990,;MATR3,missense_variant,p.Ser38Pro,ENST00000515833,;MATR3,missense_variant,p.Ser264Pro,ENST00000361059,;MATR3,intron_variant,,ENST00000512876,;MATR3,intron_variant,,ENST00000514528,;MATR3,intron_variant,,ENST00000503811,;MATR3,intron_variant,,ENST00000511249,;MATR3,intron_variant,,ENST00000512107,;MATR3,intron_variant,,ENST00000502499,;MATR3,intron_variant,,ENST00000504311,;MATR3,intron_variant,,ENST00000506147,;MATR3,intron_variant,,ENST00000504203,;MATR3,intron_variant,,ENST00000509644,;MATR3,intron_variant,,ENST00000513678,;MATR3,downstream_gene_variant,,ENST00000508689,;MATR3,downstream_gene_variant,,ENST00000514694,;MATR3,downstream_gene_variant,,ENST00000503340,;MATR3,downstream_gene_variant,,ENST00000502394,;MATR3,downstream_gene_variant,,ENST00000514488,;MATR3,downstream_gene_variant,,ENST00000511378,;MATR3,downstream_gene_variant,,ENST00000504023,;MATR3,downstream_gene_variant,,ENST00000505016,;MATR3,intron_variant,,ENST00000509918,;MATR3,intron_variant,,ENST00000511978,;MATR3,intron_variant,,ENST00000504643,;MATR3,intron_variant,,ENST00000507860,;MATR3,intron_variant,,ENST00000513121,;MATR3,upstream_gene_variant,,ENST00000505625,;MATR3,upstream_gene_variant,,ENST00000514402,;	1125	50	69	SUCCESS
ANKHD1	54882	.	GRCh37	5	139903797	139903798	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	389	181	350	0	ENST00000360839.2:c.4465dup	p.Glu1489GlyfsTer3	p.E1489Gfs*3	ENST00000360839	NM_017747.2	1488	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS4224.1	4464-4465	VARSCANI*|PINDEL	.	GAGGATGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23206	.	.	ENSP00000297183	.	25/36	.	.	.	.	.	.	.	.	.	25/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	insertion	ANKHD1,frameshift_variant,p.Glu1489GlyfsTer3,ENST00000360839,;ANKHD1,frameshift_variant,p.Glu1508GlyfsTer3,ENST00000421134,;ANKHD1,frameshift_variant,p.Glu1489GlyfsTer3,ENST00000297183,;ANKHD1,frameshift_variant,p.Glu11GlyfsTer3,ENST00000433049,;ANKHD1,frameshift_variant,p.Glu145GlyfsTer3,ENST00000431508,;ANKHD1-EIF4EBP3,frameshift_variant,p.Glu1489GlyfsTer3,ENST00000532219,;ANKHD1,upstream_gene_variant,,ENST00000432301,;ANKHD1,downstream_gene_variant,,ENST00000412116,;ANKHD1,upstream_gene_variant,,ENST00000435794,;ANKHD1,upstream_gene_variant,,ENST00000544120,;ANKHD1,downstream_gene_variant,,ENST00000246149,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000437495,;SNORD45,downstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000474060,;	4588-4589	350	570	SUCCESS
LPCAT1	79888	.	GRCh37	5	1466955	1466955	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	28	0	ENST00000283415.3:c.1329C>A	p.Cys443Ter	p.C443*	ENST00000283415	NM_024830.3	443	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS3864.1	1329	RADIA|VARSCANS	.	AGGATGCAGGA	NONE	.	.	hmmpanther:PTHR23063:SF11,hmmpanther:PTHR23063,Pfam_domain:PF13833,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000283415	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000283415	Transcript	.	.	ENSG00000153395	25718	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCAT1_HUMAN	LPCAT1	HGNC	D3DTC2_HUMAN	.	UPI000004771C	SNV	LPCAT1,stop_gained,p.Cys443Ter,ENST00000283415,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000503252,;LPCAT1,stop_gained,p.Cys443Ter,ENST00000475622,;	1462	28	34	SUCCESS
FBXW11	23291	.	GRCh37	5	171296743	171296743	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773518789	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	44	0	ENST00000265094.5:c.1457G>A	p.Arg486His	p.R486H	ENST00000265094	NM_012300.2	486	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34289.1	1457	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGTGCGCAAA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF123,hmmpanther:PTHR22844,PROSITE_profiles:PS50294	.	.	ENSP00000265094	.	11/13	.	.	.	.	.	.	.	.	rs773518789	11/13	PASS	ENST00000265094	Transcript	.	.	ENSG00000072803	13607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.23)	.	FBW1B_HUMAN	FBXW11	HGNC	.	.	UPI000012ADB8	SNV	FBXW11,missense_variant,p.Arg486His,ENST00000265094,;FBXW11,missense_variant,p.Arg454His,ENST00000425623,;FBXW11,missense_variant,p.Arg452His,ENST00000393802,;FBXW11,missense_variant,p.Arg473His,ENST00000296933,;FBXW11,non_coding_transcript_exon_variant,,ENST00000522376,;FBXW11,upstream_gene_variant,,ENST00000518106,;FBXW11,3_prime_UTR_variant,,ENST00000523843,;	1595	44	41	SUCCESS
HK3	3101	.	GRCh37	5	176317835	176317835	+	synonymous_variant	Silent	SNP	C	C	T	rs762862821	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	32	0	ENST00000292432.5:c.522G>A	p.Thr174=	p.T174=	ENST00000292432	NM_002115.2	174	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4407.1	522	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAGCCCGTCTG	NONE	byFrequency	.	Pfam_domain:PF00349,Gene3D:3.30.420.40,Superfamily_domains:SSF53067	.	.	ENSP00000292432	.	5/19	.	.	.	.	.	.	.	.	rs762862821	5/19	PASS	ENST00000292432	Transcript	.	.	ENSG00000160883	4925	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HXK3_HUMAN	HK3	HGNC	.	.	UPI000006E237	SNV	HK3,synonymous_variant,p.%3D,ENST00000292432,;HK3,3_prime_UTR_variant,,ENST00000504910,;HK3,intron_variant,,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000506834,;	614	32	26	SUCCESS
ITGA1	3672	.	GRCh37	5	52084218	52084218	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746771583	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	16	0	ENST00000282588.6:c.31G>C	p.Val11Leu	p.V11L	ENST00000282588	NM_181501.1	11	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS3955.1	31	MUTECT|MUSE	.	CAGGGGTCGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22	.	.	ENSP00000282588	.	1/29	.	.	.	.	.	.	.	.	rs746771583	1/29	PASS	ENST00000282588	Transcript	.	.	ENSG00000213949	6134	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.3)	.	ITA1_HUMAN	ITGA1	HGNC	.	.	UPI00001A95E8	SNV	ITGA1,missense_variant,p.Val11Leu,ENST00000282588,;PELO,5_prime_UTR_variant,,ENST00000274311,;CTD-2288O8.1,upstream_gene_variant,,ENST00000502995,;PELO,non_coding_transcript_exon_variant,,ENST00000506949,;ITGA1,non_coding_transcript_exon_variant,,ENST00000504086,;	489	16	12	SUCCESS
IL31RA	133396	.	GRCh37	5	55202077	55202077	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	47	0	ENST00000447346.2:c.1213G>C	p.Glu405Gln	p.E405Q	ENST00000447346	NM_001242636.1	405	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS3970.2	1213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGAATCT	NONE	.	.	hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000415900	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000447346	Transcript	1	.	ENSG00000164509	18969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.37)	.	IL31R_HUMAN	IL31RA	HGNC	.	.	UPI00001A41DC	SNV	IL31RA,missense_variant,p.Glu405Gln,ENST00000447346,;IL31RA,missense_variant,p.Glu263Gln,ENST00000490985,;IL31RA,missense_variant,p.Glu405Gln,ENST00000359040,;IL31RA,missense_variant,p.Glu386Gln,ENST00000354961,;IL31RA,missense_variant,p.Glu405Gln,ENST00000396836,;IL31RA,missense_variant,p.Glu386Gln,ENST00000396834,;IL31RA,missense_variant,p.Glu263Gln,ENST00000297015,;	1278	47	49	SUCCESS
HTR1A	3350	.	GRCh37	5	63256420	63256420	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	55	1	ENST00000323865.3:c.1127A>T	p.His376Leu	p.H376L	ENST00000323865	NM_000524.3	376	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS34168.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGTGGCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000316244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323865	Transcript	1	.	ENSG00000178394	5286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.62)	.	5HT1A_HUMAN	HTR1A	HGNC	Q5ZGX3_HUMAN,D6RA34_HUMAN	.	UPI0000124F1A	SNV	HTR1A,missense_variant,p.His376Leu,ENST00000323865,;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	1361	56	56	SUCCESS
MTX3	345778	.	GRCh37	5	79287047	79287047	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	12	22	0	ENST00000512528.1:c.15G>T	p.Leu5Phe	p.L5F	ENST00000512528		5	ttG/ttT	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54872.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCAAGGG	NONE	.	.	.	.	.	ENSP00000423600	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000512560	Transcript	.	.	ENSG00000177034	24812	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTX3_HUMAN	MTX3	HGNC	.	.	UPI0001BDAB0C	SNV	MTX3,missense_variant,p.Leu5Phe,ENST00000512528,;MTX3,missense_variant,p.Leu5Phe,ENST00000509852,;MTX3,5_prime_UTR_variant,,ENST00000512560,;THBS4,upstream_gene_variant,,ENST00000510218,;THBS4,upstream_gene_variant,,ENST00000513310,;	22	22	22	SUCCESS
ROS1	6098	.	GRCh37	6	117718163	117718163	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	35	106	0	ENST00000368508.3:c.694C>T	p.Leu232=	p.L232=	ENST00000368508	NM_002944.2	232	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5116.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCAGCCTTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000357494	.	7/43	.	.	.	.	.	.	.	.	.	7/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,synonymous_variant,p.%3D,ENST00000368507,;ROS1,synonymous_variant,p.%3D,ENST00000368508,;GOPC,intron_variant,,ENST00000467125,;	893	106	45	SUCCESS
CLVS2	134829	.	GRCh37	6	123319163	123319163	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	9	29	0	ENST00000275162.5:c.241C>T	p.Gln81Ter	p.Q81*	ENST00000275162	NM_001010852.3	81	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34525.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGCAGCAGAAC	NONE	.	.	hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF73,Gene3D:3.40.525.10,Superfamily_domains:SSF46938	.	.	ENSP00000275162	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000275162	Transcript	.	.	ENSG00000146352	23046	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLVS2_HUMAN	CLVS2	HGNC	.	.	UPI000013DA49	SNV	CLVS2,stop_gained,p.Gln81Ter,ENST00000275162,;CLVS2,intron_variant,,ENST00000368438,;	1576	29	13	SUCCESS
FGFR1OP	0	.	GRCh37	6	167438330	167438330	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	21	71	0	ENST00000366847.4:c.867A>G	p.Leu289=	p.L289=	ENST00000366847	NM_007045.3	289	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5296.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTAAAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15431,hmmpanther:PTHR15431:SF3	.	.	ENSP00000355812	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000366847	Transcript	.	.	ENSG00000213066	17012	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FR1OP_HUMAN	FGFR1OP	HGNC	.	.	UPI0000071446	SNV	FGFR1OP,synonymous_variant,p.%3D,ENST00000349556,;FGFR1OP,synonymous_variant,p.%3D,ENST00000366847,;FGFR1OP,non_coding_transcript_exon_variant,,ENST00000496181,;FGFR1OP,non_coding_transcript_exon_variant,,ENST00000488525,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	1098	71	28	SUCCESS
DLL1	28514	.	GRCh37	6	170592756	170592756	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	35	0	ENST00000366756.3:c.1611G>A	p.Glu537=	p.E537=	ENST00000366756	NM_005618.3	537	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS5313.1	1611	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGGCCCTCTAG	NONE	.	.	hmmpanther:PTHR24044	.	.	ENSP00000355718	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000366756	Transcript	.	.	ENSG00000198719	2908	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLL1_HUMAN	DLL1	HGNC	.	.	UPI000004C656	SNV	DLL1,synonymous_variant,p.%3D,ENST00000366756,;RP5-894D12.3,downstream_gene_variant,,ENST00000438622,;RP5-894D12.3,downstream_gene_variant,,ENST00000607074,;RP5-894D12.3,downstream_gene_variant,,ENST00000422894,;	1945	35	18	SUCCESS
HLA-B	3106	.	GRCh37	6	31324160	31324161	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	27	0	ENST00000412585.2:c.402_403insT	p.Arg135SerfsTer4	p.R135Sfs*4	ENST00000412585	NM_005514.6	134	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS34394.1	402-403	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGCGGAGGA	NONE	.	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF157,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452	.	.	ENSP00000399168	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000412585	Transcript	.	.	ENSG00000234745	4932	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	1B73_HUMAN,1B07_HUMAN,1B42_HUMAN,1B67_HUMAN,1B81_HUMAN,1B48_HUMAN	HLA-B	HGNC	T1R372_HUMAN,R4QQU0_HUMAN,N0A4A9_HUMAN,N0A0K3_HUMAN,M9XMA8_HUMAN,M9PAL2_HUMAN,M9P9U8_HUMAN,M9P9C4_HUMAN,M9P9A4_HUMAN,M9P990_HUMAN,M9P8G8_HUMAN,M1FXF1_HUMAN,M1FWX2_HUMAN,M1F4D0_HUMAN,E5FQ95_HUMAN,Q9UIP1_HUMAN,Q9TQC5_HUMAN,Q9TQC2_HUMAN,Q9TPU4_HUMAN,Q9GIM0_HUMAN,Q95IE1_HUMAN,Q95HL7_HUMAN,Q8SP64_HUMAN,Q8HWQ3_HUMAN,Q861E5_HUMAN,Q861D6_HUMAN,Q861D4_HUMAN,Q7YP17_HUMAN,Q7YNX2_HUMAN,Q7JGR7_HUMAN,Q710M8_HUMAN,Q710M7_HUMAN,Q70HJ6_HUMAN,Q709M5_HUMAN,Q6ZXT6_HUMAN,Q5QR88_HUMAN,Q5QR87_HUMAN,Q5QR86_HUMAN,Q5QR85_HUMAN,Q5QR84_HUMAN,Q5QR83_HUMAN,Q5QR76_HUMAN,Q5QR73_HUMAN,Q5QR69_HUMAN,Q5QR62_HUMAN,Q5QR60_HUMAN,Q5QR59_HUMAN,Q5QR58_HUMAN,Q5QR57_HUMAN,Q5QR48_HUMAN,Q5QR47_HUMAN,Q5QR46_HUMAN,Q5QR36_HUMAN,Q5QR34_HUMAN,Q5QR33_HUMAN,Q5QR31_HUMAN,Q5F311_HUMAN,Q53ZP0_HUMAN,Q29923_HUMAN,Q29843_HUMAN,Q256S0_HUMAN,O19782_HUMAN,O19746_HUMAN,O19644_HUMAN,O19638_HUMAN,O19563_HUMAN,L0RH50_HUMAN,L0BXM2_HUMAN,K9LCN4_HUMAN,K9L8E6_HUMAN,K7QT39_HUMAN,K7P5R9_HUMAN,K4JQY2_HUMAN,J9UP90_HUMAN,J9PWQ9_HUMAN,J9PW07_HUMAN,J7K017_HUMAN,J7F682_HUMAN,J7F577_HUMAN,I7A4E3_HUMAN,I6TRW4_HUMAN,I6RCX9_HUMAN,I6NXG0_HUMAN,I6NWI0_HUMAN,I6NVS4_HUMAN,I4EC43_HUMAN,I3VZ13_HUMAN,I3UI65_HUMAN,I3QHR8_HUMAN,I2B2Z4_HUMAN,I2B2W6_HUMAN,H9C5J4_HUMAN,H9BQ86_HUMAN,H9BQ83_HUMAN,H9BQ82_HUMAN,G9I2L1_HUMAN,G3D6I7_HUMAN,G1EPU3_HUMAN,G1EPN0_HUMAN,G1EPJ1_HUMAN,G1ENJ6_HUMAN,G1ENJ0_HUMAN,G1EMP0_HUMAN,G1EMK6_HUMAN,G0ZMJ0_HUMAN,G0ZMH5_HUMAN,G0Z8C9_HUMAN,G0WVB6_HUMAN,F8SKV9_HUMAN,F8RHF3_HUMAN,F6KRS1_HUMAN,F6KRR7_HUMAN,F6KRQ7_HUMAN,F4YU56_HUMAN,F4YTC4_HUMAN,F4NBP2_HUMAN,F4NBP0_HUMAN,F2X5W5_HUMAN,F2X5T3_HUMAN,F2VNN2_HUMAN,E9LY38_HUMAN,E7BYA5_HUMAN,E3SWI1_HUMAN,E3SWH9_HUMAN,E2GJN0_HUMAN,E2DH92_HUMAN,E2D5Q2_HUMAN,E2D5P9_HUMAN,E2D5N8_HUMAN,D9U3G7_HUMAN,D7NSR4_HUMAN,D5L9C9_HUMAN,D5FWA6_HUMAN,D5FI14_HUMAN,D5FHY1_HUMAN,D5FHV8_HUMAN,D5FHU6_HUMAN,D4HPL2_HUMAN,D4HPB9_HUMAN,D4HPB2_HUMAN,D4HP81_HUMAN,D3Y5Y4_HUMAN,D3U4B8_HUMAN,D2DL25_HUMAN,D2DKQ8_HUMAN,D2DKN8_HUMAN,D2DKN6_HUMAN,D2DKF7_HUMAN,D2DKF6_HUMAN,C9WEP9_HUMAN,C9WEN6_HUMAN,C9WD06_HUMAN,C9WCZ5_HUMAN,C9WCQ2_HUMAN,C9E1H2_HUMAN,C8CH80_HUMAN,C8CAX9_HUMAN,C7FDQ9_HUMAN,C6L830_HUMAN,C5JA70_HUMAN,C3VIU8_HUMAN,B9VWB1_HUMAN,B4DUK6_HUMAN,B2YG95_HUMAN,A7E1C3_HUMAN,A5PHP5_HUMAN,A2VC07_HUMAN	.	UPI0000000B17	insertion	HLA-B,frameshift_variant,p.Arg135SerfsTer4,ENST00000412585,;HLA-B,frameshift_variant,p.Arg146SerfsTer4,ENST00000434333,;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,;HLA-B,non_coding_transcript_exon_variant,,ENST00000474381,;HLA-B,upstream_gene_variant,,ENST00000481849,;HLA-B,upstream_gene_variant,,ENST00000463574,;HLA-B,upstream_gene_variant,,ENST00000497377,;XXbac-BPG248L24.12,upstream_gene_variant,,ENST00000603274,;	431-432	27	32	SUCCESS
HSPA1L	3305	.	GRCh37	6	31778553	31778553	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	44	0	ENST00000375654.4:c.1197T>C	p.Ala399=	p.A399=	ENST00000375654	NM_005527.3	399	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS34413.1	1197	RADIA|VARSCANS	.	AGGGGAGCCAC	NONE	.	.	Prints_domain:PR00301,Superfamily_domains:SSF100920,Pfam_domain:PF00012,Gene3D:2.60.34.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137,Low_complexity_(Seg):seg	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,synonymous_variant,p.%3D,ENST00000417199,;HSPA1L,synonymous_variant,p.%3D,ENST00000375654,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000375651,;LSM2,upstream_gene_variant,,ENST00000375661,;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	1387	44	35	SUCCESS
CRISP2	7180	.	GRCh37	6	49666218	49666218	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	45	0	ENST00000339139.4:c.274A>T	p.Thr92Ser	p.T92S	ENST00000339139	NM_001261822.1	92	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4928.1	274	RADIA|VARSCANS	.	TCTTGTACCTA	NONE	.	.	Superfamily_domains:SSF55797,SMART_domains:SM00198,Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF154	.	.	ENSP00000339155	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000339139	Transcript	.	.	ENSG00000124490	12024	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.196)	.	tolerated(0.18)	.	CRIS2_HUMAN	CRISP2	HGNC	Q5U8Z9_HUMAN	.	UPI000013728C	SNV	CRISP2,missense_variant,p.Thr92Ser,ENST00000339139,;	511	45	26	SUCCESS
COL12A1	1303	.	GRCh37	6	75855116	75855116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373216375	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	29	0	ENST00000322507.8:c.4616C>T	p.Thr1539Met	p.T1539M	ENST00000322507	NM_004370.5	1539	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS43482.1	4616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGTGTTG	NONE	byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	25/66	.	.	.	.	.	.	.	.	rs373216375	25/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Thr1539Met,ENST00000416123,;COL12A1,missense_variant,p.Thr1539Met,ENST00000322507,;COL12A1,missense_variant,p.Thr281Met,ENST00000419671,;COL12A1,missense_variant,p.Thr1539Met,ENST00000483888,;COL12A1,missense_variant,p.Thr375Met,ENST00000345356,;COL12A1,non_coding_transcript_exon_variant,,ENST00000474564,;	4926	29	23	SUCCESS
SENP6	26054	.	GRCh37	6	76376473	76376473	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	35	0	ENST00000447266.2:c.1040G>T	p.Arg347Ile	p.R347I	ENST00000447266	NM_015571.2	347	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS47454.1	1040	RADIA|VARSCANS	.	TAACAGAAGAG	NONE	.	.	hmmpanther:PTHR12438:SF14,hmmpanther:PTHR12438	.	.	ENSP00000402527	.	10/24	.	.	.	.	.	.	.	.	.	10/24	oxog	ENST00000447266	Transcript	.	.	ENSG00000112701	20944	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.723)	.	deleterious(0)	.	SENP6_HUMAN	SENP6	HGNC	H0Y4F4_HUMAN	.	UPI0000141B65	SNV	SENP6,missense_variant,p.Arg237Ile,ENST00000424947,;SENP6,missense_variant,p.Arg340Ile,ENST00000327284,;SENP6,missense_variant,p.Arg340Ile,ENST00000370010,;SENP6,missense_variant,p.Arg347Ile,ENST00000370014,;SENP6,missense_variant,p.Arg347Ile,ENST00000447266,;SENP6,upstream_gene_variant,,ENST00000541192,;SENP6,downstream_gene_variant,,ENST00000483859,;SENP6,downstream_gene_variant,,ENST00000436928,;SENP6,downstream_gene_variant,,ENST00000485497,;SENP6,upstream_gene_variant,,ENST00000503501,;	1518	35	27	SUCCESS
GRM8	2918	.	GRCh37	7	126542649	126542649	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs78947184	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	69	0	ENST00000339582.2:c.1103G>T	p.Gly368Val	p.G368V	ENST00000339582		368	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5794.1	1103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCAAAA	BUFFER|p.E365D|c.1095G>T|3,BUFFER|p.E365D|c.1095G>T|3	byCluster	.	hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01058	.	.	ENSP00000344173	.	6/11	.	.	.	.	.	.	.	.	rs78947184	6/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.06)	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Gly368Val,ENST00000339582,;GRM8,missense_variant,p.Gly368Val,ENST00000444921,;GRM8,missense_variant,p.Gly368Val,ENST00000358373,;GRM8,missense_variant,p.Gly368Val,ENST00000405249,;GRM8,downstream_gene_variant,,ENST00000457830,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Gly368Val,ENST00000341617,;GRM8,missense_variant,p.Gly368Val,ENST00000472701,;	1912	69	68	SUCCESS
GRM8	2918	.	GRCh37	7	126542650	126542650	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	68	0	ENST00000339582.2:c.1102G>T	p.Gly368Cys	p.G368C	ENST00000339582		368	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5794.1	1102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCAAAAT	BUFFER|p.E365D|c.1095G>T|3	.	.	hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01058	.	.	ENSP00000344173	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	deleterious(0.01)	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Gly368Cys,ENST00000339582,;GRM8,missense_variant,p.Gly368Cys,ENST00000444921,;GRM8,missense_variant,p.Gly368Cys,ENST00000358373,;GRM8,missense_variant,p.Gly368Cys,ENST00000405249,;GRM8,downstream_gene_variant,,ENST00000457830,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Gly368Cys,ENST00000341617,;GRM8,missense_variant,p.Gly368Cys,ENST00000472701,;	1911	68	69	SUCCESS
ABCA13	154664	.	GRCh37	7	48506582	48506582	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201934902	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	54	0	ENST00000435803.1:c.12845G>A	p.Arg4282His	p.R4282H	ENST00000435803	NM_152701.3	4282	cGt/cAt	0	A:0.0002	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS47584.1	12845	RADIA|MUTECT|MUSE	.	CACCCGTGTGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	A:0	A:0	ENSP00000411096	A:0	44/62	.	.	.	.	.	.	.	.	rs201934902,COSM1451271,COSM1451270	44/62	PASS	ENST00000435803	Transcript	.	A:0.0002	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	benign(0)	A:0	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Arg4282His,ENST00000435803,;ABCA13,intron_variant,,ENST00000544596,;ABCA13,intron_variant,,ENST00000411975,;ABCA13,missense_variant,p.Arg548His,ENST00000453246,;	12869	54	51	SUCCESS
CHCHD2	51142	.	GRCh37	7	56170696	56170696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	19	0	ENST00000395422.3:c.309G>T	p.Gln103His	p.Q103H	ENST00000395422	NM_016139.2	103	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5526.1	309	RADIA|VARSCANS	.	GTTCCCTGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13523,hmmpanther:PTHR13523:SF3	.	.	ENSP00000378812	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395422	Transcript	.	.	ENSG00000106153	21645	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.06)	.	tolerated(0.29)	.	CHCH2_HUMAN	CHCHD2	HGNC	.	.	UPI0000073DC7	SNV	CHCHD2,missense_variant,p.Gln103His,ENST00000395422,;snoU13,downstream_gene_variant,,ENST00000458988,;CHCHD2,non_coding_transcript_exon_variant,,ENST00000473095,;	472	19	28	SUCCESS
FAM220A	84792	.	GRCh37	7	6370386	6370386	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760742712	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	27	0	ENST00000313324.4:c.400G>A	p.Gly134Arg	p.G134R	ENST00000313324	NM_001037163.1	134	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34599.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCTCCTC	NONE	.	.	hmmpanther:PTHR31980,Pfam_domain:PF15487	.	.	ENSP00000317289	.	2/2	.	.	.	.	.	.	.	.	rs760742712	2/2	PASS	ENST00000313324	Transcript	.	.	ENSG00000178397	22422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.34)	.	F220A_HUMAN	FAM220A	HGNC	E9PQY0_HUMAN,E9PQC6_HUMAN	.	UPI000013F4F0	SNV	FAM220A,missense_variant,p.Gly134Arg,ENST00000313324,;FAM220A,downstream_gene_variant,,ENST00000524898,;FAM220A,downstream_gene_variant,,ENST00000578372,;FAM220A,downstream_gene_variant,,ENST00000530143,;FAM220A,downstream_gene_variant,,ENST00000533877,;	868	27	34	SUCCESS
OPLAH	26873	.	GRCh37	8	145106247	145106247	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	45	0	ENST00000426825.1:c.3847C>A	p.Arg1283=	p.R1283=	ENST00000426825	NM_017570.3	1283	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	.	3847	RADIA|VARSCANS	.	GGCCCGGCGAT	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365	.	.	ENSP00000475943	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,synonymous_variant,p.%3D,ENST00000426825,;SPATC1,downstream_gene_variant,,ENST00000377470,;SPATC1,downstream_gene_variant,,ENST00000447830,;CTD-3065J16.6,non_coding_transcript_exon_variant,,ENST00000528912,;CTD-3065J16.6,downstream_gene_variant,,ENST00000561181,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000531027,;OPLAH,downstream_gene_variant,,ENST00000527993,;	3929	46	35	SUCCESS
OPLAH	26873	.	GRCh37	8	145112593	145112593	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	53	0	ENST00000426825.1:c.1180G>A	p.Ala394Thr	p.A394T	ENST00000426825	NM_017570.3	394	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGCATCCG	NONE	.	.	hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF01968	.	.	ENSP00000475943	.	10/28	.	.	.	.	.	.	.	.	.	10/28	PASS	ENST00000426825	Transcript	1	.	ENSG00000178814	8149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	OPLA_HUMAN	OPLAH	HGNC	.	.	UPI000035154E	SNV	OPLAH,missense_variant,p.Ala394Thr,ENST00000426825,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,downstream_gene_variant,,ENST00000567871,;OPLAH,upstream_gene_variant,,ENST00000527993,;OPLAH,upstream_gene_variant,,ENST00000531027,;	1262	53	41	SUCCESS
ZNF596	169270	.	GRCh37	8	192905	192905	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	28	0	ENST00000308811.4:c.31G>T	p.Asp11Tyr	p.D11Y	ENST00000308811	NM_173539.2	11	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS5951.2	31	RADIA|VARSCANS	.	TCGAGGATATC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF133,hmmpanther:PTHR24381,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000381613	.	3/6	.	.	.	.	.	.	.	.	COSM3898660	3/6	PASS	ENST00000398612	Transcript	.	.	ENSG00000172748	27268	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	ZN596_HUMAN	ZNF596	HGNC	E5RJH7_HUMAN,E5RIL8_HUMAN,E5RHT8_HUMAN	.	UPI0000160DBF	SNV	ZNF596,missense_variant,p.Asp11Tyr,ENST00000320552,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000521145,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000521270,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000518414,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000308811,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000522866,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000398612,;ZNF596,intron_variant,,ENST00000518320,;ZNF596,downstream_gene_variant,,ENST00000521238,;ZNF596,missense_variant,p.Asp11Tyr,ENST00000523162,;ZNF596,non_coding_transcript_exon_variant,,ENST00000523333,;ZNF596,non_coding_transcript_exon_variant,,ENST00000523418,;	414	28	28	SUCCESS
MYOM2	9172	.	GRCh37	8	2024362	2024362	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs536708249	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	70	0	ENST00000262113.4:c.1262G>A	p.Arg421Gln	p.R421Q	ENST00000262113	NM_003970.2	421	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS5957.1	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGGTGAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000262113	.	11/37	.	.	.	.	.	.	.	.	rs536708249	11/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	deleterious(0)	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,missense_variant,p.Arg421Gln,ENST00000262113,;MYOM2,intron_variant,,ENST00000523438,;	1403	70	48	SUCCESS
CSMD1	64478	.	GRCh37	8	2820093	2820093	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	29	1	ENST00000537824.1:c.9523T>C	p.Ser3175Pro	p.S3175P	ENST00000537824	NM_033225.5	3175	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS55189.1	9523	SOMATICSNIPER|VARSCANS	.	TTCGGACTTAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	61/70	.	.	.	.	.	.	.	.	.	61/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ser2999Pro,ENST00000400186,;CSMD1,missense_variant,p.Ser2998Pro,ENST00000542608,;CSMD1,missense_variant,p.Ser2999Pro,ENST00000602723,;CSMD1,missense_variant,p.Ser2593Pro,ENST00000335551,;CSMD1,missense_variant,p.Ser3175Pro,ENST00000537824,;CSMD1,missense_variant,p.Ser3176Pro,ENST00000602557,;CSMD1,missense_variant,p.Ser3176Pro,ENST00000520002,;	9523	30	39	SUCCESS
ASPH	444	.	GRCh37	8	62626969	62626969	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	25	0	ENST00000379454.4:c.-39G>C		p.*13*	ENST00000379454	NM_004318.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34898.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTCCTTCA	NONE	.	.	.	.	.	ENSP00000368767	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,5_prime_UTR_variant,,ENST00000518068,;ASPH,5_prime_UTR_variant,,ENST00000517856,;ASPH,5_prime_UTR_variant,,ENST00000379454,;ASPH,5_prime_UTR_variant,,ENST00000356457,;ASPH,5_prime_UTR_variant,,ENST00000379449,;ASPH,5_prime_UTR_variant,,ENST00000519234,;MIR4470,upstream_gene_variant,,ENST00000583453,;	150	25	21	SUCCESS
XKR5	389610	.	GRCh37	8	6681084	6681084	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	74	0	ENST00000518724.1:n.747T>A		p.*249*	ENST00000518724				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACAGAACC	NONE	.	.	.	.	.	.	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000518724	Transcript	.	.	ENSG00000186530	20782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XKR5	HGNC	.	.	.	SNV	XKR5,non_coding_transcript_exon_variant,,ENST00000518724,;XKR5,non_coding_transcript_exon_variant,,ENST00000405979,;XKR5,non_coding_transcript_exon_variant,,ENST00000409172,;	747	74	71	SUCCESS
TMEM67	91147	.	GRCh37	8	94770714	94770714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	55	0	ENST00000453321.3:c.316G>T	p.Gly106Cys	p.G106C	ENST00000453321	NM_153704.5	106	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS6258.2	316	RADIA|VARSCANS	.	AGAAAGGTGTT	NONE	.	.	hmmpanther:PTHR21274:SF0,hmmpanther:PTHR21274,Superfamily_domains:SSF57184	.	.	ENSP00000389998	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000453321	Transcript	1	.	ENSG00000164953	28396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.946)	.	deleterious(0.01)	.	MKS3_HUMAN	TMEM67	HGNC	E5RG10_HUMAN,C9JRQ8_HUMAN	.	UPI0000D624E9	SNV	TMEM67,splice_acceptor_variant,,ENST00000518319,;TMEM67,splice_acceptor_variant,,ENST00000409623,;TMEM67,missense_variant,p.Gly106Cys,ENST00000453906,;TMEM67,missense_variant,p.Gly3Cys,ENST00000452276,;TMEM67,missense_variant,p.Gly106Cys,ENST00000453321,;TMEM67,missense_variant,p.Gly104Cys,ENST00000521517,;TMEM67,5_prime_UTR_variant,,ENST00000498673,;TMEM67,splice_acceptor_variant,,ENST00000521222,;TMEM67,missense_variant,p.Gly106Cys,ENST00000455946,;TMEM67,missense_variant,p.Gly96Cys,ENST00000323130,;TMEM67,missense_variant,p.Arg75Met,ENST00000521065,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,non_coding_transcript_exon_variant,,ENST00000475305,;TMEM67,downstream_gene_variant,,ENST00000481620,;	374	55	39	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123199606	123199606	+	synonymous_variant	Silent	SNP	G	G	A	rs765512094	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	29	80	0	ENST00000349780.4:c.3922C>T	p.Leu1308=	p.L1308=	ENST00000349780	NM_018249.5	1308	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6823.1	3922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCTCAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	25/38	.	.	.	.	.	.	.	.	rs765512094	25/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,synonymous_variant,p.%3D,ENST00000416449,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000349780,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360822,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000425647,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360190,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000359309,;CDK5RAP2,downstream_gene_variant,,ENST00000479584,;CDK5RAP2,downstream_gene_variant,,ENST00000468989,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	4102	80	60	SUCCESS
TTLL11	158135	.	GRCh37	9	124751326	124751326	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	17	0	ENST00000321582.5:c.1539+148G>A		p.*513*	ENST00000321582	NM_001139442.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48012.1	.	RADIA|VARSCANS	.	TGGGCCCAGGT	NONE	.	.	.	.	.	ENSP00000321346	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321582	Transcript	.	.	ENSG00000175764	18113	.	.	MODIFIER	4/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TTLL11	HGNC	F8W6M1_HUMAN	.	UPI0000E0BF7B	SNV	TTLL11,3_prime_UTR_variant,,ENST00000373776,;TTLL11,intron_variant,,ENST00000321582,;TTLL11,non_coding_transcript_exon_variant,,ENST00000487468,;TTLL11,intron_variant,,ENST00000474723,;TTLL11,intron_variant,,ENST00000373778,;	.	17	18	SUCCESS
FAM102A	399665	.	GRCh37	9	130710383	130710383	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772806737	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	22	0	ENST00000373095.1:c.583C>A	p.Pro195Thr	p.P195T	ENST00000373095	NM_001035254.2	195	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS35150.1	583	RADIA|VARSCANS	.	GGGGGGCCGGG	NONE	byFrequency	.	hmmpanther:PTHR21456,hmmpanther:PTHR21456:SF2	.	.	ENSP00000362187	.	6/11	.	.	.	.	.	.	.	.	rs772806737	6/11	oxog	ENST00000373095	Transcript	.	.	ENSG00000167106	31419	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.17)	.	F102A_HUMAN	FAM102A	HGNC	.	.	UPI00005D3C96	SNV	FAM102A,missense_variant,p.Pro195Thr,ENST00000373095,;FAM102A,missense_variant,p.Pro53Thr,ENST00000373084,;FAM102A,intron_variant,,ENST00000300434,;FAM102A,downstream_gene_variant,,ENST00000479828,;FAM102A,non_coding_transcript_exon_variant,,ENST00000465821,;	959	22	28	SUCCESS
DDX58	23586	.	GRCh37	9	32493893	32493893	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs1177630726	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	8	93	0	ENST00000379883.2:c.289del	p.Ile97LeufsTer11	p.I97Lfs*11	ENST00000379883	NM_014314.3	97	Att/tt	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS6526.1	289	INDELOCATOR*|PINDEL	.	TTTCAATTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16	.	.	ENSP00000369213	.	3/18	.	.	.	.	.	.	.	.	COSM1461979	3/18	PASS	ENST00000379883	Transcript	.	.	ENSG00000107201	19102	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	DDX58_HUMAN	DDX58	HGNC	A2A376_HUMAN	.	UPI000013C841	deletion	DDX58,frameshift_variant,p.Ile26LeufsTer11,ENST00000542096,;DDX58,frameshift_variant,p.Ile97LeufsTer11,ENST00000379883,;DDX58,frameshift_variant,p.Ile52LeufsTer11,ENST00000379882,;DDX58,5_prime_UTR_variant,,ENST00000545044,;DDX58,5_prime_UTR_variant,,ENST00000379868,;	447	93	99	SUCCESS
ABHD17B	51104	.	GRCh37	9	74481719	74481719	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	38	0	ENST00000333421.6:c.851A>C	p.Glu284Ala	p.E284A	ENST00000333421	NM_001025780.1	284	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS35042.1	851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTCCTGT	NONE	.	.	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF48,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000366240	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000377041	Transcript	.	.	ENSG00000107362	24278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	AB17B_HUMAN	ABHD17B	HGNC	.	.	UPI0000210B1F	SNV	ABHD17B,missense_variant,p.Glu284Ala,ENST00000377041,;ABHD17B,missense_variant,p.Glu284Ala,ENST00000333421,;	1152	38	29	SUCCESS
HTR2C	3358	.	GRCh37	X	114141874	114141874	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs781872799	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	67	193	0	ENST00000276198.1:c.1273G>T	p.Glu425Ter	p.E425*	ENST00000276198	NM_000868.2	425	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14564.1	1273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCGAGAAA	NONE	byFrequency	.	hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247,Prints_domain:PR00517	.	.	ENSP00000276198	.	6/6	.	.	.	.	.	.	.	.	rs781872799,COSM1465018	6/6	PASS	ENST00000276198	Transcript	.	.	ENSG00000147246	5295	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,stop_gained,p.Glu425Ter,ENST00000276198,;HTR2C,stop_gained,p.Glu425Ter,ENST00000371951,;HTR2C,3_prime_UTR_variant,,ENST00000371950,;	2001	193	177	SUCCESS
OR13H1	347468	.	GRCh37	X	130678192	130678192	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	83	199	0	ENST00000338616.3:c.145A>G	p.Ile49Val	p.I49V	ENST00000338616	NM_001004486.1	49	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS35396.1	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTATTCAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF76,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000340748	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338616	Transcript	.	.	ENSG00000171054	14755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.75)	.	O13H1_HUMAN	OR13H1	HGNC	.	.	UPI000003CAC9	SNV	OR13H1,missense_variant,p.Ile49Val,ENST00000338616,;	243	199	226	SUCCESS
IDS	3423	.	GRCh37	X	148584736	148584736	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	107	0	ENST00000340855.6:c.418+106G>A		p.*140*	ENST00000340855	NM_001166550.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCCAGCC	NONE	.	.	.	.	.	ENSP00000477056	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422081	Transcript	.	.	ENSG00000241489	5389	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IDS	Uniprot_gn	B4DIX1_HUMAN,B3KWA1_HUMAN	.	UPI0000EE78A2	SNV	IDS,missense_variant,p.Gly175Glu,ENST00000428056,;IDS,intron_variant,,ENST00000370443,;IDS,intron_variant,,ENST00000541269,;IDS,intron_variant,,ENST00000422081,;IDS,intron_variant,,ENST00000370441,;IDS,intron_variant,,ENST00000340855,;IDS,downstream_gene_variant,,ENST00000521702,;IDS,intron_variant,,ENST00000523759,;IDS,intron_variant,,ENST00000427113,;IDS,intron_variant,,ENST00000490775,;IDS,intron_variant,,ENST00000441880,;IDS,upstream_gene_variant,,ENST00000466019,;IDS,intron_variant,,ENST00000464251,;IDS,intron_variant,,ENST00000466323,;	.	108	103	SUCCESS
ZNF185	7739	.	GRCh37	X	152101462	152101462	+	synonymous_variant	Silent	SNP	G	G	A	rs1041593473	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	85	0	ENST00000370268.4:c.1065G>A	p.Thr355=	p.T355=	ENST00000370268		355	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS55529.1	1065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGGGCTC	NONE	.	.	hmmpanther:PTHR15468:SF2,hmmpanther:PTHR15468	.	.	ENSP00000440847	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,synonymous_variant,p.%3D,ENST00000318504,;ZNF185,synonymous_variant,p.%3D,ENST00000370270,;ZNF185,synonymous_variant,p.%3D,ENST00000449285,;ZNF185,synonymous_variant,p.%3D,ENST00000370268,;ZNF185,synonymous_variant,p.%3D,ENST00000318529,;ZNF185,synonymous_variant,p.%3D,ENST00000539731,;ZNF185,synonymous_variant,p.%3D,ENST00000535861,;ZNF185,synonymous_variant,p.%3D,ENST00000426821,;ZNF185,intron_variant,,ENST00000324823,;ZNF185,intron_variant,,ENST00000447792,;ZNF185,synonymous_variant,p.%3D,ENST00000436731,;	1113	85	76	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20206011	20206011	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	64	177	0	ENST00000379565.3:c.709C>T	p.Pro237Ser	p.P237S	ENST00000379565	NM_004586.2	237	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS14197.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGAGCCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,missense_variant,p.Pro208Ser,ENST00000379548,;RPS6KA3,missense_variant,p.Pro237Ser,ENST00000379565,;RPS6KA3,missense_variant,p.Pro209Ser,ENST00000540702,;RPS6KA3,missense_variant,p.Pro209Ser,ENST00000544447,;RPS6KA3,missense_variant,p.Pro208Ser,ENST00000457145,;	917	177	159	SUCCESS
TSPAN7	7102	.	GRCh37	X	38525510	38525510	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	84	0	ENST00000378482.2:c.217G>C	p.Gly73Arg	p.G73R	ENST00000378482	NM_004615.3	73	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS14248.1	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTGGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF192,PROSITE_patterns:PS00421,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	.	.	ENSP00000367743	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000378482	Transcript	.	.	ENSG00000156298	11854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TSN7_HUMAN	TSPAN7	HGNC	Q7Z3Z6_HUMAN,Q7Z2J5_HUMAN,Q7Z2I5_HUMAN,Q7Z2E9_HUMAN,Q7Z2D9_HUMAN	.	UPI000013683C	SNV	TSPAN7,missense_variant,p.Gly47Arg,ENST00000545599,;TSPAN7,missense_variant,p.Gly99Arg,ENST00000422612,;TM4SF2,missense_variant,p.Gly103Arg,ENST00000465127,;TSPAN7,missense_variant,p.Gly90Arg,ENST00000286824,;TSPAN7,missense_variant,p.Gly73Arg,ENST00000378482,;TSPAN7,non_coding_transcript_exon_variant,,ENST00000488893,;TSPAN7,non_coding_transcript_exon_variant,,ENST00000494037,;TSPAN7,3_prime_UTR_variant,,ENST00000480976,;TSPAN7,3_prime_UTR_variant,,ENST00000471410,;TSPAN7,3_prime_UTR_variant,,ENST00000475216,;TSPAN7,non_coding_transcript_exon_variant,,ENST00000419600,;	394	84	107	SUCCESS
IQSEC2	23096	.	GRCh37	X	53270991	53270991	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	39	0	ENST00000396435.3:c.2990T>C	p.Val997Ala	p.V997A	ENST00000396435	NM_001111125.2	997	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS48130.1	2990	RADIA|VARSCANS	.	GGAAGACCTCC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF61,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000379712	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.761)	.	deleterious(0.02)	.	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,missense_variant,p.Val792Ala,ENST00000375365,;IQSEC2,missense_variant,p.Val987Ala,ENST00000375368,;IQSEC2,missense_variant,p.Val997Ala,ENST00000396435,;	3191	39	27	SUCCESS
VAX1	11023	.	GRCh37	10	118896162	118896162	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	39	0	ENST00000369206.5:c.250G>A	p.Gly84Arg	p.G84R	ENST00000369206	NM_001112704.1	84	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS44483.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCCTTGG	NONE	.	.	hmmpanther:PTHR24339:SF27,hmmpanther:PTHR24339	.	.	ENSP00000358207	.	2/3	.	.	.	.	.	.	.	.	COSM4011981,COSM4011980	2/3	PASS	ENST00000369206	Transcript	1	.	ENSG00000148704	12660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious(0)	1,1	VAX1_HUMAN	VAX1	HGNC	.	.	UPI000013DB43	SNV	VAX1,missense_variant,p.Gly84Arg,ENST00000277905,;VAX1,missense_variant,p.Gly84Arg,ENST00000369206,;	250	39	46	SUCCESS
VAX1	11023	.	GRCh37	10	118896163	118896163	+	synonymous_variant	Silent	SNP	C	C	T	rs567659626	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	40	0	ENST00000369206.5:c.249G>A	p.Lys83=	p.K83=	ENST00000369206	NM_001112704.1	83	aaG/aaA	0	.	T:0	.	T:0.0014	.	T	K	protein_coding	YES	CCDS44483.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCTTGGC	NONE	by1000G	.	hmmpanther:PTHR24339:SF27,hmmpanther:PTHR24339	T:0	.	ENSP00000358207	T:0	2/3	.	.	.	.	.	.	.	.	rs567659626	2/3	PASS	ENST00000369206	Transcript	1	T:0.0002	ENSG00000148704	12660	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	VAX1_HUMAN	VAX1	HGNC	.	.	UPI000013DB43	SNV	VAX1,synonymous_variant,p.%3D,ENST00000277905,;VAX1,synonymous_variant,p.%3D,ENST00000369206,;	249	40	46	SUCCESS
SLC39A12	221074	.	GRCh37	10	18292223	18292223	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	62	121	0	ENST00000377369.2:c.1883G>A	p.Cys628Tyr	p.C628Y	ENST00000377369	NM_001145195.1	628	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS44362.1	1883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGTGTTC	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000366586	.	12/13	.	.	.	.	.	.	.	.	COSM336324,COSM383022	12/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.612)	.	tolerated(1)	1,1	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Cys628Tyr,ENST00000377369,;SLC39A12,missense_variant,p.Cys494Tyr,ENST00000539911,;SLC39A12,missense_variant,p.Cys627Tyr,ENST00000377371,;SLC39A12,missense_variant,p.Cys591Tyr,ENST00000377374,;SLC39A12-AS1,non_coding_transcript_exon_variant,,ENST00000445287,;SLC39A12-AS1,non_coding_transcript_exon_variant,,ENST00000439319,;	2156	121	154	SUCCESS
MYO3A	53904	.	GRCh37	10	26436361	26436361	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	88	0	ENST00000265944.5:c.2508C>A		p.X836_splice	ENST00000265944	NM_017433.4	836	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7148.1	2508	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCCTCTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	23/35	.	.	.	.	.	.	.	.	COSM538316	23/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,synonymous_variant,p.%3D,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	2674	88	99	SUCCESS
MYO3A	53904	.	GRCh37	10	26465727	26465727	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	96	0	ENST00000265944.5:c.4391A>G	p.His1464Arg	p.H1464R	ENST00000265944	NM_017433.4	1464	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS7148.1	4391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCACCATA	NONE	.	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	31/35	.	.	.	.	.	.	.	.	.	31/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.66)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.His1464Arg,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	4557	96	81	SUCCESS
ZNF488	118738	.	GRCh37	10	48371172	48371172	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	55	0	ENST00000395702.2:c.640G>A	p.Val214Ile	p.V214I	ENST00000395702		214	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS7217.1	640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGTTGGT	NONE	.	.	hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF1	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.14)	.	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	SNV	ZNF488,missense_variant,p.Val214Ile,ENST00000395702,;ZNF488,missense_variant,p.Val107Ile,ENST00000586537,;ZNF488,3_prime_UTR_variant,,ENST00000494156,;ZNF488,downstream_gene_variant,,ENST00000444585,;ZNF488,downstream_gene_variant,,ENST00000442001,;ZNF488,downstream_gene_variant,,ENST00000433077,;ZNF488,downstream_gene_variant,,ENST00000436850,;ZNF488,downstream_gene_variant,,ENST00000412534,;ZNF488,downstream_gene_variant,,ENST00000425196,;	867	55	45	SUCCESS
WDFY4	57705	.	GRCh37	10	50151490	50151490	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	21	0	ENST00000325239.5:c.7745C>A	p.Ser2582Ter	p.S2582*	ENST00000325239	NM_020945.1	2582	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS44385.1	7745	RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCAGAGG	NONE	.	.	PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	.	.	ENSP00000320563	.	48/61	.	.	.	.	.	.	.	.	.	48/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,stop_gained,p.Ser2582Ter,ENST00000325239,;WDFY4,stop_gained,p.Ser669Ter,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,upstream_gene_variant,,ENST00000465910,;	7772	21	17	SUCCESS
CHAT	1103	.	GRCh37	10	50824554	50824554	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	45	0	ENST00000337653.2:c.293A>G	p.His98Arg	p.H98R	ENST00000337653	NM_020549.4	98	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS7232.1	293	RADIA|VARSCANS	.	TCCACACCTCT	NONE	.	.	.	.	.	ENSP00000337103	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000337653	Transcript	1	.	ENSG00000070748	1912	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.01)	.	CLAT_HUMAN	CHAT	HGNC	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN	.	UPI000013F1B9	SNV	CHAT,missense_variant,p.His16Arg,ENST00000395562,;CHAT,missense_variant,p.His98Arg,ENST00000337653,;CHAT,5_prime_UTR_variant,,ENST00000395559,;CHAT,5_prime_UTR_variant,,ENST00000455728,;CHAT,5_prime_UTR_variant,,ENST00000351556,;CHAT,5_prime_UTR_variant,,ENST00000339797,;SLC18A3,downstream_gene_variant,,ENST00000374115,;CHAT,non_coding_transcript_exon_variant,,ENST00000481336,;CHAT,non_coding_transcript_exon_variant,,ENST00000460699,;CHAT,non_coding_transcript_exon_variant,,ENST00000490270,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	446	45	38	SUCCESS
DNA2	1763	.	GRCh37	10	70192040	70192040	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs201999986	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	21	199	0	ENST00000358410.3:c.1796G>C	p.Arg599Pro	p.R599P	ENST00000358410	NM_001080449.2	599	cGt/cCt	0	T:0.0003	T:0	.	T:0	.	G	R/P	protein_coding	YES	.	2054	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCACGAAAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10887:SF339,hmmpanther:PTHR10887	T:0	T:0.0012	ENSP00000382133	T:0.001	12/21	.	.	.	.	.	.	.	.	rs201999986	12/21	PASS	ENST00000399180	Transcript	1	T:0.0002	ENSG00000138346	2939	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.874)	T:0	deleterious(0.03)	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,missense_variant,p.Arg599Pro,ENST00000358410,;DNA2,missense_variant,p.Arg599Pro,ENST00000399179,;DNA2,missense_variant,p.Arg685Pro,ENST00000399180,;DNA2,missense_variant,p.Arg599Pro,ENST00000551118,;DNA2,upstream_gene_variant,,ENST00000440722,;DNA2,downstream_gene_variant,,ENST00000478029,;	2054	200	162	SUCCESS
SLC16A12	387700	.	GRCh37	10	91193059	91193059	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	60	0	ENST00000341233.4:c.1223G>T	p.Ser408Ile	p.S408I	ENST00000341233	NM_213606.3	408	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS7404.2	1313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGCTGCCG	NONE	.	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF28,PROSITE_profiles:PS50850	.	.	ENSP00000360855	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371790	Transcript	1	.	ENSG00000152779	23094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	.	SLC16A12	HGNC	E9PSF9_HUMAN,E9PPP4_HUMAN	.	UPI0000049FA0	SNV	SLC16A12,missense_variant,p.Ser408Ile,ENST00000341233,;SLC16A12,missense_variant,p.Ser438Ile,ENST00000371790,;	1614	60	49	SUCCESS
PGR	5241	.	GRCh37	11	100999292	100999292	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	15	0	ENST00000325455.5:c.510C>G	p.Cys170Trp	p.C170W	ENST00000325455	NM_001202474.3	170	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS8310.1	510	RADIA|MUTECT|MUSE	.	ACCTTGCACCC	NONE	.	.	hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161	.	.	ENSP00000325120	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.273)	.	deleterious_low_confidence(0)	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,missense_variant,p.Cys170Trp,ENST00000263463,;PGR,missense_variant,p.Cys170Trp,ENST00000325455,;PGR,intron_variant,,ENST00000534013,;PGR,missense_variant,p.Cys170Trp,ENST00000534780,;PGR,missense_variant,p.Cys170Trp,ENST00000528960,;PGR,missense_variant,p.Cys170Trp,ENST00000526300,;	1964	15	13	SUCCESS
CARD18	59082	.	GRCh37	11	105009742	105009742	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	57	113	0	ENST00000530950.1:c.71C>A	p.Ala24Asp	p.A24D	ENST00000530950	NM_021571.3	24	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS53705.1	71	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGCATTT	NONE	.	.	PROSITE_profiles:PS50209,hmmpanther:PTHR10454:SF136,hmmpanther:PTHR10454,Pfam_domain:PF00619,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000436691	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000530950	Transcript	.	.	ENSG00000255501	28861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	deleterious(0.04)	.	CAR18_HUMAN	CARD18	HGNC	G5EA35_HUMAN	.	UPI000012D143	SNV	CARD18,missense_variant,p.Ala24Asp,ENST00000530950,;CARD18,5_prime_UTR_variant,,ENST00000532895,;CARD18,5_prime_UTR_variant,,ENST00000526823,;	71	114	121	SUCCESS
CTR9	9646	.	GRCh37	11	10797162	10797162	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	75	1	ENST00000361367.2:c.3077T>A	p.Leu1026His	p.L1026H	ENST00000361367	NM_014633.3	1026	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS7805.1	3077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACTTAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2	.	.	ENSP00000355013	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000361367	Transcript	.	.	ENSG00000198730	16850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	tolerated(0.19)	.	CTR9_HUMAN	CTR9	HGNC	.	.	UPI000006F32A	SNV	CTR9,missense_variant,p.Leu1026His,ENST00000361367,;CTR9,downstream_gene_variant,,ENST00000529898,;	3503	76	83	SUCCESS
DDX10	1662	.	GRCh37	11	108712068	108712068	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	83	206	0	ENST00000322536.3:c.2112G>T	p.Gln704His	p.Q704H	ENST00000322536	NM_004398.2	704	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS8342.1	2112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGAAATC	NONE	.	.	.	.	.	ENSP00000314348	.	15/18	.	.	.	.	.	.	.	.	COSM94128	15/18	PASS	ENST00000322536	Transcript	.	.	ENSG00000178105	2735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	DDX10_HUMAN	DDX10	HGNC	.	.	UPI0000140E62	SNV	DDX10,missense_variant,p.Gln704His,ENST00000526794,;DDX10,missense_variant,p.Gln704His,ENST00000322536,;DDX10,non_coding_transcript_exon_variant,,ENST00000534439,;DDX10,non_coding_transcript_exon_variant,,ENST00000533198,;	2241	206	220	SUCCESS
COLCA1	399948	.	GRCh37	11	111166919	111166919	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	85	0	ENST00000532918.1:c.285G>C	p.Leu95Phe	p.L95F	ENST00000532918		95	ttG/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	.	285	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAACAG	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000437253	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000532918	Transcript	.	.	ENSG00000196167	33789	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.765)	.	.	.	COLC1_HUMAN	COLCA1	HGNC	.	.	UPI00001C0E9B	SNV	COLCA1,missense_variant,p.Leu95Phe,ENST00000532918,;COLCA1,missense_variant,p.Leu95Phe,ENST00000540738,;COLCA1,missense_variant,p.Leu95Phe,ENST00000355430,;COLCA2,upstream_gene_variant,,ENST00000398035,;COLCA2,upstream_gene_variant,,ENST00000528846,;COLCA2,upstream_gene_variant,,ENST00000526216,;COLCA1,downstream_gene_variant,,ENST00000526150,;	2691	85	86	SUCCESS
TMPRSS13	84000	.	GRCh37	11	117784524	117784524	+	synonymous_variant	Silent	SNP	T	T	C	rs758103334	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	38	0	ENST00000524993.1:c.777A>G	p.Ser259=	p.S259=	ENST00000524993	NM_001077263.2	259	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS41721.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTGAGTA	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,PIRSF_domain:PIRSF037935,Gene3D:3.10.250.10,Pfam_domain:PF15494,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF1,PROSITE_profiles:PS50287	.	.	ENSP00000434279	.	5/13	.	.	.	.	.	.	.	.	rs758103334	5/13	PASS	ENST00000524993	Transcript	.	.	ENSG00000137747	29808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TMPRSS13	HGNC	Q1RMF8_HUMAN,E9PRA0_HUMAN	.	UPI0000E5923F	SNV	TMPRSS13,synonymous_variant,p.%3D,ENST00000526090,;TMPRSS13,synonymous_variant,p.%3D,ENST00000524993,;TMPRSS13,synonymous_variant,p.%3D,ENST00000430170,;TMPRSS13,synonymous_variant,p.%3D,ENST00000528626,;TMPRSS13,synonymous_variant,p.%3D,ENST00000445164,;TMPRSS13,3_prime_UTR_variant,,ENST00000528135,;TMPRSS13,downstream_gene_variant,,ENST00000525794,;	835	38	52	SUCCESS
CD81	975	.	GRCh37	11	2417938	2417938	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	47	0	ENST00000263645.5:c.642G>T	p.Val214=	p.V214=	ENST00000263645	NM_004356.3	214	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS7734.1	642	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGATCAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF209,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	.	.	ENSP00000263645	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000263645	Transcript	.	.	ENSG00000110651	1701	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD81_HUMAN	CD81	HGNC	E9PPF5_HUMAN,E9PM31_HUMAN,E9PJK1_HUMAN	.	UPI0000047033	SNV	CD81,synonymous_variant,p.%3D,ENST00000492252,;CD81,synonymous_variant,p.%3D,ENST00000527343,;CD81,synonymous_variant,p.%3D,ENST00000263645,;CD81,synonymous_variant,p.%3D,ENST00000526072,;CD81,synonymous_variant,p.%3D,ENST00000381036,;CD81,synonymous_variant,p.%3D,ENST00000464784,;CD81,synonymous_variant,p.%3D,ENST00000492627,;CD81,synonymous_variant,p.%3D,ENST00000481687,;TSSC4,upstream_gene_variant,,ENST00000435795,;TSSC4,upstream_gene_variant,,ENST00000485682,;TSSC4,upstream_gene_variant,,ENST00000380996,;CD81,downstream_gene_variant,,ENST00000533417,;CD81,downstream_gene_variant,,ENST00000493525,;TSSC4,upstream_gene_variant,,ENST00000333256,;TSSC4,upstream_gene_variant,,ENST00000437110,;TSSC4,upstream_gene_variant,,ENST00000380992,;CD81,downstream_gene_variant,,ENST00000530648,;CD81,downstream_gene_variant,,ENST00000475945,;CD81,downstream_gene_variant,,ENST00000524805,;CD81,non_coding_transcript_exon_variant,,ENST00000468153,;CD81,non_coding_transcript_exon_variant,,ENST00000531840,;CD81,non_coding_transcript_exon_variant,,ENST00000481386,;CD81,downstream_gene_variant,,ENST00000530239,;	898	47	36	SUCCESS
KCNE3	10008	.	GRCh37	11	74168404	74168404	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	97	0	ENST00000310128.4:c.205G>C	p.Ala69Pro	p.A69P	ENST00000310128	NM_005472.4	69	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS8232.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCAAATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15282:SF6,hmmpanther:PTHR15282,Pfam_domain:PF02060,Prints_domain:PR00168	.	.	ENSP00000310557	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000310128	Transcript	.	.	ENSG00000175538	6243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	KCNE3_HUMAN	KCNE3	HGNC	Q6IAE6_HUMAN,Q2N1I1_HUMAN,E9PN03_HUMAN,E9PJV9_HUMAN	.	UPI000012F15C	SNV	KCNE3,missense_variant,p.Ala69Pro,ENST00000310128,;KCNE3,missense_variant,p.Ala69Pro,ENST00000532569,;KCNE3,missense_variant,p.Ala69Pro,ENST00000525550,;KCNE3,downstream_gene_variant,,ENST00000531854,;KCNE3,downstream_gene_variant,,ENST00000529425,;KCNE3,downstream_gene_variant,,ENST00000526855,;RP11-702H23.4,intron_variant,,ENST00000533008,;RP11-702H23.6,downstream_gene_variant,,ENST00000530510,;	625	97	92	SUCCESS
TRIM49C	642612	.	GRCh37	11	89774525	89774525	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1262121511	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	106	0	ENST00000448984.1:c.1166G>T	p.Cys389Phe	p.C389F	ENST00000448984	NM_001195234.1	389	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS53694.1	1166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGCAGTC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF268,PROSITE_profiles:PS50188	.	.	ENSP00000388299	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000448984	Transcript	.	.	ENSG00000204449	38877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.51)	.	TR49C_HUMAN	TRIM49C	HGNC	.	.	UPI000013EA2B	SNV	TRIM49C,missense_variant,p.Cys389Phe,ENST00000448984,;TRIM49C,intron_variant,,ENST00000432771,;	1495	106	69	SUCCESS
CLEC9A	283420	.	GRCh37	12	10205339	10205339	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	76	0	ENST00000355819.1:c.53A>T	p.Asp18Val	p.D18V	ENST00000355819	NM_207345.2	18	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS8611.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGACACTT	NONE	.	.	hmmpanther:PTHR22800:SF11,hmmpanther:PTHR22800,Gene3D:3.10.100.10	.	.	ENSP00000348074	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000355819	Transcript	.	.	ENSG00000197992	26705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.02)	.	CLC9A_HUMAN	CLEC9A	HGNC	.	.	UPI00001D696C	SNV	CLEC9A,missense_variant,p.Asp18Val,ENST00000355819,;CLEC9A,non_coding_transcript_exon_variant,,ENST00000544751,;	666	76	81	SUCCESS
KLRC2	3822	.	GRCh37	12	10587104	10587104	+	synonymous_variant	Silent	SNP	C	C	T	rs749002157	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	453	91	530	0	ENST00000381902.2:c.312G>A	p.Pro104=	p.P104=	ENST00000381902	NM_002260.3	104	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31745.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTCGGGGA	NONE	byFrequency	.	hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF162,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	.	.	ENSP00000371327	.	3/6	.	.	.	.	.	.	.	.	rs749002157	3/6	PASS	ENST00000381902	Transcript	.	.	ENSG00000205809	6375	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2C_HUMAN	KLRC2	HGNC	.	.	UPI0000140823	SNV	KLRC2,synonymous_variant,p.%3D,ENST00000381902,;NKG2-E,synonymous_variant,p.%3D,ENST00000539033,;KLRC2,synonymous_variant,p.%3D,ENST00000536833,;KLRC2,intron_variant,,ENST00000381901,;KLRC2,upstream_gene_variant,,ENST00000537017,;KLRC2,synonymous_variant,p.%3D,ENST00000535069,;	319	530	544	SUCCESS
MORN3	283385	.	GRCh37	12	122107446	122107446	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	23	0	ENST00000355329.3:c.-57G>T		p.*19*	ENST00000355329	NM_173855.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31917.1	.	MUTECT|MUSE	.	TGGGGCTCAGC	NONE	.	.	.	.	.	ENSP00000347486	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000355329	Transcript	.	.	ENSG00000139714	29807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MORN3_HUMAN	MORN3	HGNC	.	.	UPI00000558DC	SNV	MORN3,5_prime_UTR_variant,,ENST00000355329,;MORN3,5_prime_UTR_variant,,ENST00000392462,;MORN3,intron_variant,,ENST00000542364,;	115	23	23	SUCCESS
EP400NL	0	.	GRCh37	12	132588784	132588791	+	intron_variant	Intron	DEL	GGGAAGCC	GGGAAGCC	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	GGGAAGCC	GGGAAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	143	0	ENST00000443539.2:c.150+69_150+76del		p.*50*	ENST00000443539				0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR*|PINDEL	.	GCTCCAGGGAAGCCCACAG	NONE	.	.	.	.	.	ENSP00000404338	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443539	Transcript	.	.	ENSG00000185684	26602	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	E400N_HUMAN	EP400NL	HGNC	F2Z2G7_HUMAN	.	UPI00003E27F2	deletion	EP400NL,frameshift_variant,p.Gln73HisfsTer28,ENST00000376625,;EP400NL,intron_variant,,ENST00000392352,;EP400NL,intron_variant,,ENST00000389560,;EP400NL,intron_variant,,ENST00000539205,;EP400NL,intron_variant,,ENST00000443539,;EP400NL,intron_variant,,ENST00000407361,;EP400NL,intron_variant,,ENST00000454179,;EP400NL,intron_variant,,ENST00000361109,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,frameshift_variant,p.Gln73HisfsTer28,ENST00000446190,;EP400NL,intron_variant,,ENST00000332441,;	.	143	94	SUCCESS
TMEM106C	79022	.	GRCh37	12	48359775	48359775	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1565658340	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	37	120	0	ENST00000429772.2:c.406A>G	p.Ile136Val	p.I136V	ENST00000429772	NM_001143842.1	136	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8758.1	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCATCATG	NONE	.	.	Pfam_domain:PF07092	.	.	ENSP00000400471	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000429772	Transcript	.	.	ENSG00000134291	28775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.16)	.	T106C_HUMAN	TMEM106C	HGNC	F8VZW0_HUMAN,F8VVN7_HUMAN	.	UPI000006D603	SNV	TMEM106C,missense_variant,p.Ile65Val,ENST00000548640,;TMEM106C,missense_variant,p.Ile136Val,ENST00000449758,;TMEM106C,missense_variant,p.Ile65Val,ENST00000552546,;TMEM106C,missense_variant,p.Ile23Val,ENST00000547682,;TMEM106C,missense_variant,p.Ile136Val,ENST00000552561,;TMEM106C,missense_variant,p.Ile136Val,ENST00000256686,;TMEM106C,missense_variant,p.Ile136Val,ENST00000550552,;TMEM106C,missense_variant,p.Ile136Val,ENST00000429772,;TMEM106C,5_prime_UTR_variant,,ENST00000546749,;TMEM106C,intron_variant,,ENST00000548965,;TMEM106C,intron_variant,,ENST00000549288,;TMEM106C,non_coding_transcript_exon_variant,,ENST00000551305,;TMEM106C,non_coding_transcript_exon_variant,,ENST00000547136,;TMEM106C,non_coding_transcript_exon_variant,,ENST00000550161,;TMEM106C,intron_variant,,ENST00000550146,;TMEM106C,intron_variant,,ENST00000548355,;TMEM106C,intron_variant,,ENST00000553217,;TMEM106C,downstream_gene_variant,,ENST00000552187,;TMEM106C,downstream_gene_variant,,ENST00000551705,;TMEM106C,downstream_gene_variant,,ENST00000548153,;TMEM106C,upstream_gene_variant,,ENST00000549287,;	519	120	138	SUCCESS
TROAP	10024	.	GRCh37	12	49724529	49724529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	34	0	ENST00000257909.3:c.1901G>A	p.Gly634Glu	p.G634E	ENST00000257909	NM_005480.3	634	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS8784.1	1901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGGCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3	.	.	ENSP00000257909	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000257909	Transcript	.	.	ENSG00000135451	12327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TROAP_HUMAN	TROAP	HGNC	F8W052_HUMAN	.	UPI000007108A	SNV	TROAP,missense_variant,p.Gly634Glu,ENST00000551245,;TROAP,missense_variant,p.Gly313Glu,ENST00000547923,;TROAP,missense_variant,p.Gly634Glu,ENST00000257909,;C1QL4,downstream_gene_variant,,ENST00000334221,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;	1977	34	37	SUCCESS
DCD	117159	.	GRCh37	12	55040929	55040929	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761933396	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	46	0	ENST00000293371.6:c.73G>T	p.Ala25Ser	p.A25S	ENST00000293371	NM_053283.2	25	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8884.1	73	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCGGCCT	NONE	.	.	Pfam_domain:PF15291	.	.	ENSP00000293371	.	2/5	.	.	.	.	.	.	.	.	rs761933396	2/5	PASS	ENST00000293371	Transcript	.	.	ENSG00000161634	14669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	tolerated_low_confidence(0.21)	.	DCD_HUMAN	DCD	HGNC	.	.	UPI0000001723	SNV	DCD,missense_variant,p.Ala25Ser,ENST00000456047,;DCD,missense_variant,p.Ala25Ser,ENST00000293371,;DCD,missense_variant,p.Ala25Ser,ENST00000546807,;	263	46	52	SUCCESS
ATN1	1822	.	GRCh37	12	7047886	7047886	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	44	0	ENST00000356654.4:c.2760C>T	p.Val920=	p.V920=	ENST00000356654	NM_001007026.1	920	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31734.1	2760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCCCGGC	NONE	.	.	hmmpanther:PTHR13859:SF9,hmmpanther:PTHR13859,Pfam_domain:PF03154,Prints_domain:PR01222	.	.	ENSP00000349076	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000356654	Transcript	.	.	ENSG00000111676	3033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATN1_HUMAN	ATN1	HGNC	Q86V38_HUMAN	.	UPI000006F554	SNV	ATN1,synonymous_variant,p.%3D,ENST00000396684,;ATN1,synonymous_variant,p.%3D,ENST00000356654,;C12orf57,upstream_gene_variant,,ENST00000545581,;U47924.31,downstream_gene_variant,,ENST00000607421,;C12orf57,upstream_gene_variant,,ENST00000542222,;ATN1,non_coding_transcript_exon_variant,,ENST00000541029,;C12orf57,upstream_gene_variant,,ENST00000538392,;ATN1,upstream_gene_variant,,ENST00000537488,;	2997	44	41	SUCCESS
NAV3	89795	.	GRCh37	12	78400495	78400495	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	104	0	ENST00000397909.2:c.1177G>A	p.Ala393Thr	p.A393T	ENST00000397909	NM_001024383.1	393	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41815.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGCCCGG	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.21)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Ala393Thr,ENST00000266692,;NAV3,missense_variant,p.Ala393Thr,ENST00000549464,;NAV3,missense_variant,p.Ala393Thr,ENST00000536525,;NAV3,missense_variant,p.Ala393Thr,ENST00000397909,;NAV3,missense_variant,p.Ala217Thr,ENST00000550503,;NAV3,missense_variant,p.Ala393Thr,ENST00000228327,;NAV3,downstream_gene_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;	1350	104	116	SUCCESS
DAOA	267012	.	GRCh37	13	106142291	106142291	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1490907366	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	61	0	ENST00000375936.3:c.323C>A	p.Ala108Glu	p.A108E	ENST00000375936	NM_001161812.1	108	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS41905.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCAAGAA	NONE	.	.	Pfam_domain:PF15199	.	.	ENSP00000365103	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000375936	Transcript	.	.	ENSG00000182346	21191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	tolerated_low_confidence(0.28)	.	DAOA_HUMAN	DAOA	HGNC	.	.	UPI00001B01AA	SNV	DAOA,missense_variant,p.Ala37Glu,ENST00000329625,;DAOA,missense_variant,p.Ala108Glu,ENST00000375936,;DAOA-AS1,non_coding_transcript_exon_variant,,ENST00000448407,;DAOA,missense_variant,p.Ala80Glu,ENST00000595812,;DAOA,missense_variant,p.Ala37Glu,ENST00000600388,;DAOA,missense_variant,p.Ala37Glu,ENST00000559369,;DAOA,3_prime_UTR_variant,,ENST00000601240,;DAOA,3_prime_UTR_variant,,ENST00000471432,;DAOA,3_prime_UTR_variant,,ENST00000473269,;DAOA,3_prime_UTR_variant,,ENST00000488534,;DAOA,3_prime_UTR_variant,,ENST00000489237,;	369	61	87	SUCCESS
PROSER1	80209	.	GRCh37	13	39587551	39587551	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1228401144	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	68	0	ENST00000352251.3:c.1838G>A	p.Ser613Asn	p.S613N	ENST00000352251	NM_025138.4	613	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS9368.2	1838	MUTECT|MUSE	.	TAGGACTTGTG	NONE	.	.	hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2	.	.	ENSP00000332034	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000352251	Transcript	.	.	ENSG00000120685	20291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0.04)	.	PRSR1_HUMAN	PROSER1	HGNC	.	.	UPI00001FCC65	SNV	PROSER1,missense_variant,p.Ser613Asn,ENST00000352251,;PROSER1,missense_variant,p.Ser591Asn,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,upstream_gene_variant,,ENST00000492646,;PROSER1,downstream_gene_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000602899,;	2672	68	66	SUCCESS
TDRD9	122402	.	GRCh37	14	104506642	104506642	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs182776644	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	86	0	ENST00000409874.4:c.3826G>A	p.Val1276Ile	p.V1276I	ENST00000409874	NM_153046.2	1276	Gtt/Att	0	T:0	T:0	.	T:0	.	A	V/I	protein_coding	YES	CCDS9987.2	3826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACGTTCAA	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0016	ENSP00000387303	T:0.002	33/36	.	.	.	.	.	.	.	.	rs182776644	33/36	PASS	ENST00000409874	Transcript	.	T:0.0006	ENSG00000156414	20122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	T:0.001	deleterious(0.01)	.	TDRD9_HUMAN	TDRD9	HGNC	.	.	UPI0001642306	SNV	TDRD9,missense_variant,p.Val1276Ile,ENST00000409874,;TDRD9,intron_variant,,ENST00000557332,;TDRD9,intron_variant,,ENST00000339063,;	3874	86	87	SUCCESS
PARP2	10038	.	GRCh37	14	20822996	20822996	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	94	0	ENST00000250416.5:c.831A>C	p.Ala277=	p.A277=	ENST00000250416	NM_005484.3	277	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS41910.1	831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCAGGTTA	NONE	.	.	PROSITE_profiles:PS51060,hmmpanther:PTHR15447,Pfam_domain:PF02877,Gene3D:1.20.142.10,Superfamily_domains:SSF47587	.	.	ENSP00000250416	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000250416	Transcript	.	.	ENSG00000129484	272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PARP2_HUMAN	PARP2	HGNC	G3V167_HUMAN	.	UPI0000035DCA	SNV	PARP2,synonymous_variant,p.%3D,ENST00000250416,;PARP2,synonymous_variant,p.%3D,ENST00000429687,;PARP2,synonymous_variant,p.%3D,ENST00000527915,;PARP2,upstream_gene_variant,,ENST00000539930,;PARP2,downstream_gene_variant,,ENST00000555140,;PARP2,splice_region_variant,,ENST00000529465,;PARP2,non_coding_transcript_exon_variant,,ENST00000527384,;PARP2,upstream_gene_variant,,ENST00000532299,;PARP2,upstream_gene_variant,,ENST00000534664,;PARP2,upstream_gene_variant,,ENST00000530598,;PARP2,downstream_gene_variant,,ENST00000528465,;	858	94	87	SUCCESS
IPO4	79711	.	GRCh37	14	24657605	24657605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	8	0	ENST00000354464.6:c.181A>G	p.Thr61Ala	p.T61A	ENST00000354464	NM_024658.3	61	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9616.1	181	MUTECT|MUSE	.	GCGGGTCAGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50166,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Gene3D:1.25.10.10,Pfam_domain:PF03810,SMART_domains:SM00913,Superfamily_domains:SSF48371	.	.	ENSP00000346453	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000354464	Transcript	.	.	ENSG00000196497	19426	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.07)	.	IPO4_HUMAN	IPO4	HGNC	Q6I9Y8_HUMAN,D3DS63_HUMAN	.	UPI000013CCB3	SNV	IPO4,missense_variant,p.Thr61Ala,ENST00000354464,;TM9SF1,downstream_gene_variant,,ENST00000524835,;TM9SF1,downstream_gene_variant,,ENST00000530611,;IPO4,upstream_gene_variant,,ENST00000561462,;TM9SF1,downstream_gene_variant,,ENST00000528010,;TM9SF1,downstream_gene_variant,,ENST00000528669,;TM9SF1,downstream_gene_variant,,ENST00000532632,;TM9SF1,downstream_gene_variant,,ENST00000528895,;TM9SF1,downstream_gene_variant,,ENST00000530563,;TM9SF1,downstream_gene_variant,,ENST00000261789,;TM9SF1,downstream_gene_variant,,ENST00000530468,;TM9SF1,downstream_gene_variant,,ENST00000396854,;TM9SF1,downstream_gene_variant,,ENST00000556387,;TM9SF1,downstream_gene_variant,,ENST00000525592,;IPO4,missense_variant,p.Thr61Ala,ENST00000559253,;IPO4,missense_variant,p.Thr61Ala,ENST00000560155,;IPO4,missense_variant,p.Thr61Ala,ENST00000558780,;IPO4,splice_region_variant,,ENST00000558046,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000561034,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000560315,;IPO4,non_coding_transcript_exon_variant,,ENST00000560222,;IPO4,non_coding_transcript_exon_variant,,ENST00000558718,;IPO4,non_coding_transcript_exon_variant,,ENST00000558193,;IPO4,non_coding_transcript_exon_variant,,ENST00000557996,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;TM9SF1,downstream_gene_variant,,ENST00000531406,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,upstream_gene_variant,,ENST00000559635,;IPO4,upstream_gene_variant,,ENST00000560935,;TM9SF1,downstream_gene_variant,,ENST00000529332,;	358	8	8	SUCCESS
LRFN5	145581	.	GRCh37	14	42356953	42356953	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	86	0	ENST00000298119.4:c.1125T>G	p.Ile375Met	p.I375M	ENST00000298119	NM_152447.3	375	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS9678.1	1125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATTAAGCT	NONE	.	.	SMART_domains:SM00409,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	tolerated(0.06)	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Ile375Met,ENST00000298119,;LRFN5,missense_variant,p.Ile375Met,ENST00000554120,;LRFN5,missense_variant,p.Ile375Met,ENST00000554171,;	2314	86	93	SUCCESS
LTBP2	4053	.	GRCh37	14	74989512	74989512	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	24	0	ENST00000261978.4:c.2640C>A	p.Pro880=	p.P880=	ENST00000261978	NM_000428.2	880	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9831.1	2640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGGGGTG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF07645,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,hmmpanther:PTHR24034:SF40,hmmpanther:PTHR24034,PROSITE_profiles:PS50026	.	.	ENSP00000261978	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,synonymous_variant,p.%3D,ENST00000261978,;LTBP2,synonymous_variant,p.%3D,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000556359,;LTBP2,synonymous_variant,p.%3D,ENST00000553939,;	3027	24	40	SUCCESS
PLCB2	5330	.	GRCh37	15	40585896	40585896	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	22	86	0	ENST00000260402.3:c.2091C>T	p.Arg697=	p.R697=	ENST00000260402	NM_004573.2	697	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42020.1	2091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTGCGTTC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF49562	.	.	ENSP00000260402	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000260402	Transcript	.	.	ENSG00000137841	9055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB2_HUMAN	PLCB2	HGNC	H0YNI4_HUMAN	.	UPI0000D79B75	SNV	PLCB2,synonymous_variant,p.%3D,ENST00000260402,;PLCB2,synonymous_variant,p.%3D,ENST00000557821,;PLCB2,synonymous_variant,p.%3D,ENST00000456256,;PLCB2,upstream_gene_variant,,ENST00000559671,;PLCB2,synonymous_variant,p.%3D,ENST00000558588,;PLCB2,upstream_gene_variant,,ENST00000558505,;PLCB2,downstream_gene_variant,,ENST00000560093,;PLCB2,upstream_gene_variant,,ENST00000560009,;PLCB2,upstream_gene_variant,,ENST00000559618,;PLCB2,downstream_gene_variant,,ENST00000558409,;PLCB2,upstream_gene_variant,,ENST00000560701,;PLCB2,upstream_gene_variant,,ENST00000561378,;PLCB2,upstream_gene_variant,,ENST00000559381,;	2341	86	93	SUCCESS
PLA2G4F	255189	.	GRCh37	15	42436338	42436338	+	synonymous_variant	Silent	SNP	T	T	A	rs1418223261	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	25	0	ENST00000397272.3:c.1986A>T	p.Thr662=	p.T662=	ENST00000397272	NM_213600.3	662	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS32204.1	1980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGTGTGTC	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000371833	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000382396	Transcript	.	.	ENSG00000168907	27396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PA24F_HUMAN	PLA2G4F	HGNC	.	.	UPI0000160965	SNV	PLA2G4F,synonymous_variant,p.%3D,ENST00000397272,;PLA2G4F,synonymous_variant,p.%3D,ENST00000382396,;PLA2G4F,3_prime_UTR_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,intron_variant,,ENST00000562320,;PLA2G4F,downstream_gene_variant,,ENST00000561893,;	2067	25	31	SUCCESS
CSPG4	1464	.	GRCh37	15	75969717	75969717	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1255928590	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	40	0	ENST00000308508.5:c.5143G>A	p.Val1715Ile	p.V1715I	ENST00000308508	NM_001897.4	1715	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS10284.1	5143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACCCAGA	NONE	.	.	hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	.	.	ENSP00000312506	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000308508	Transcript	.	.	ENSG00000173546	2466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.241)	.	tolerated(0.26)	.	CSPG4_HUMAN	CSPG4	HGNC	.	.	UPI00001AEEB6	SNV	CSPG4,missense_variant,p.Val1715Ile,ENST00000308508,;AC105020.1,upstream_gene_variant,,ENST00000435356,;CTD-2026K11.1,downstream_gene_variant,,ENST00000569467,;	5236	40	35	SUCCESS
RASGRF1	5923	.	GRCh37	15	79298691	79298691	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs950690194	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	54	0	ENST00000419573.3:c.1951G>A	p.Ala651Thr	p.A651T	ENST00000419573	NM_002891.4	651	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10309.1	1951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCGTAGC	NONE	.	.	PROSITE_profiles:PS50212,hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113,Pfam_domain:PF00618,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591	.	.	ENSP00000405963	.	15/28	.	.	.	.	.	.	.	.	COSM1735410	15/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.957)	.	deleterious(0)	1	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,missense_variant,p.Ala638Thr,ENST00000558480,;RASGRF1,missense_variant,p.Ala651Thr,ENST00000419573,;RASGRF1,upstream_gene_variant,,ENST00000394745,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	2226	54	69	SUCCESS
TELO2	9894	.	GRCh37	16	1550623	1550623	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146959869	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	14	0	ENST00000262319.6:c.1204G>A	p.Val402Met	p.V402M	ENST00000262319	NM_016111.3	402	Gtg/Atg	0	A:0.0009	A:0.0015	.	A:0	.	A	V/M	protein_coding	YES	CCDS32363.1	1204	RADIA|MUSE	.	CCCCCGTGCGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15830,Superfamily_domains:SSF48371	A:0	A:0	ENSP00000262319	A:0	9/21	.	.	.	.	.	.	.	.	rs146959869	9/21	PASS	ENST00000262319	Transcript	.	A:0.0004	ENSG00000100726	29099	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	A:0	deleterious(0)	.	TELO2_HUMAN	TELO2	HGNC	.	.	UPI000016961D	SNV	TELO2,missense_variant,p.Val402Met,ENST00000262319,;TELO2,upstream_gene_variant,,ENST00000567423,;TELO2,upstream_gene_variant,,ENST00000564507,;TELO2,upstream_gene_variant,,ENST00000567427,;TELO2,missense_variant,p.Val402Met,ENST00000497339,;TELO2,upstream_gene_variant,,ENST00000569744,;TELO2,upstream_gene_variant,,ENST00000563676,;	1483	14	14	SUCCESS
IFT140	9742	.	GRCh37	16	1634278	1634278	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs377217453	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	16	0	ENST00000426508.2:c.1299del	p.Thr434ArgfsTer54	p.T434Rfs*54	ENST00000426508	NM_014714.3	433	tcC/tc	0	A:0	.	.	.	.	-	S/X	protein_coding	YES	CCDS10439.1	1299	INDELOCATOR|VARSCANI	.	CCCCGTGGACAG	NONE	byCluster	.	hmmpanther:PTHR15722,Superfamily_domains:SSF50978	.	A:0.0001	ENSP00000406012	.	11/31	.	.	.	.	.	.	.	.	rs377217453	11/31	PASS	ENST00000426508	Transcript	.	.	ENSG00000187535	29077	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IF140_HUMAN	IFT140	HGNC	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN	.	UPI0000073C64	deletion	IFT140,frameshift_variant,p.Thr434ArgfsTer54,ENST00000426508,;LA16c-395F10.2,intron_variant,,ENST00000563162,;LA16c-425C2.1,upstream_gene_variant,,ENST00000568149,;IFT140,non_coding_transcript_exon_variant,,ENST00000439987,;IFT140,frameshift_variant,p.His158ThrfsTer992,ENST00000397417,;IFT140,upstream_gene_variant,,ENST00000565298,;	1663	16	30	SUCCESS
TPPP3	51673	.	GRCh37	16	67424387	67424387	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146906089	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	53	0	ENST00000290942.5:c.337G>A	p.Val113Ile	p.V113I	ENST00000290942	NM_016140.2	113	Gtc/Atc	0	T:0.0007	.	.	.	.	T	V/I	protein_coding	YES	CCDS10835.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGACGCCCA	NONE	byCluster	.	hmmpanther:PTHR12932,hmmpanther:PTHR12932:SF16,Pfam_domain:PF05517,Superfamily_domains:SSF47473	.	T:0.0001	ENSP00000462435	.	2/3	.	.	.	.	.	.	.	.	rs146906089	2/3	PASS	ENST00000564104	Transcript	.	.	ENSG00000159713	24162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.17)	.	TPPP3_HUMAN	TPPP3	HGNC	.	.	UPI0000127598	SNV	TPPP3,missense_variant,p.Val113Ile,ENST00000562206,;TPPP3,missense_variant,p.Val113Ile,ENST00000290942,;TPPP3,missense_variant,p.Val113Ile,ENST00000393957,;TPPP3,missense_variant,p.Val113Ile,ENST00000564104,;ZDHHC1,downstream_gene_variant,,ENST00000348579,;ZDHHC1,downstream_gene_variant,,ENST00000565726,;RNU1-123P,downstream_gene_variant,,ENST00000458950,;ZDHHC1,downstream_gene_variant,,ENST00000566075,;TPPP3,non_coding_transcript_exon_variant,,ENST00000561537,;	1179	53	64	SUCCESS
CDRT1	374286	.	GRCh37	17	15510886	15510886	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	56	119	0	ENST00000395906.3:c.1232+2T>A		p.X411_splice	ENST00000395906	NM_006382.3	411		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTACGTGT	NONE	.	.	.	.	.	ENSP00000402644	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000455584	Transcript	.	.	ENSG00000251537	.	.	.	HIGH	12/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-385D13.1	Clone_based_vega_gene	H0Y626_HUMAN,J3QKY5_HUMAN	.	UPI000268AF94	SNV	RP11-385D13.1,splice_donor_variant,,ENST00000455584,;CDRT1,splice_donor_variant,,ENST00000261644,;CDRT1,splice_donor_variant,,ENST00000395906,;	.	119	136	SUCCESS
CCDC144NL	339184	.	GRCh37	17	20769875	20769875	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	38	0	ENST00000327925.5:c.557del	p.Pro186HisfsTer35	p.P186Hfs*35	ENST00000327925	NM_001004306.1	186	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS32591.1	557	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCGTGGGTGC	NONE	.	.	hmmpanther:PTHR22245:SF1,hmmpanther:PTHR22245	.	.	ENSP00000328054	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000327925	Transcript	.	.	ENSG00000205212	33735	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C144L_HUMAN	CCDC144NL	HGNC	.	.	UPI00001D7A84	deletion	CCDC144NL,frameshift_variant,p.Pro186HisfsTer35,ENST00000327925,;RP11-344E13.3,upstream_gene_variant,,ENST00000577860,;RP11-344E13.3,upstream_gene_variant,,ENST00000582324,;RP11-344E13.3,upstream_gene_variant,,ENST00000583962,;RP11-344E13.3,upstream_gene_variant,,ENST00000439794,;RP11-344E13.3,upstream_gene_variant,,ENST00000577537,;RP11-344E13.3,upstream_gene_variant,,ENST00000417232,;CCDC144NL,intron_variant,,ENST00000539484,;CCDC144NL,downstream_gene_variant,,ENST00000539177,;	677	38	57	SUCCESS
CORO6	84940	.	GRCh37	17	27943827	27943828	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	52	0	ENST00000345068.5:c.896_897del	p.Glu299AlafsTer33	p.E299Afs*33	ENST00000345068		299	gAG/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS11252.2	896-897	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCGGCTCGTCG	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,Pfam_domain:PF08954,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF4	.	.	ENSP00000344562	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000345068	Transcript	.	.	ENSG00000167549	21356	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CORO6_HUMAN	CORO6	HGNC	K7ERF4_HUMAN,J3QRV4_HUMAN	.	UPI0000DA4C55	deletion	CORO6,frameshift_variant,p.Glu299AlafsTer33,ENST00000584969,;CORO6,frameshift_variant,p.Glu65AlafsTer33,ENST00000456796,;CORO6,frameshift_variant,p.Glu299AlafsTer33,ENST00000345068,;CORO6,frameshift_variant,p.Glu299AlafsTer33,ENST00000388767,;CORO6,frameshift_variant,p.Glu299AlafsTer33,ENST00000445145,;CORO6,frameshift_variant,p.Glu259AlafsTer33,ENST00000580212,;ANKRD13B,downstream_gene_variant,,ENST00000579719,;CORO6,downstream_gene_variant,,ENST00000584602,;CORO6,downstream_gene_variant,,ENST00000492276,;ANKRD13B,downstream_gene_variant,,ENST00000394859,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.10,downstream_gene_variant,,ENST00000582367,;CORO6,non_coding_transcript_exon_variant,,ENST00000577909,;CORO6,3_prime_UTR_variant,,ENST00000480954,;CORO6,non_coding_transcript_exon_variant,,ENST00000469090,;CORO6,non_coding_transcript_exon_variant,,ENST00000459686,;CORO6,non_coding_transcript_exon_variant,,ENST00000467534,;CORO6,non_coding_transcript_exon_variant,,ENST00000579388,;ANKRD13B,downstream_gene_variant,,ENST00000493506,;ANKRD13B,downstream_gene_variant,,ENST00000487527,;ANKRD13B,downstream_gene_variant,,ENST00000488766,;	1110-1111	52	69	SUCCESS
FKBP10	60681	.	GRCh37	17	39975631	39975631	+	synonymous_variant	Silent	SNP	C	C	T	rs560280765	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	97	1	ENST00000321562.4:c.897C>T	p.Asp299=	p.D299=	ENST00000321562	NM_021939.3	299	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS11409.1	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGACGGCAC	NONE	by1000G	.	Superfamily_domains:SSF54534,Gene3D:3.10.50.40,Pfam_domain:PF00254,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF247,PROSITE_profiles:PS50059	T:0	.	ENSP00000317232	T:0	5/10	.	.	.	.	.	.	.	.	rs560280765	5/10	PASS	ENST00000321562	Transcript	.	T:0.0002	ENSG00000141756	18169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	FKB10_HUMAN	FKBP10	HGNC	K7ESG6_HUMAN,K7ELI6_HUMAN,C9JPC3_HUMAN	.	UPI000012A80A	SNV	FKBP10,synonymous_variant,p.%3D,ENST00000455106,;FKBP10,synonymous_variant,p.%3D,ENST00000544340,;FKBP10,synonymous_variant,p.%3D,ENST00000321562,;FKBP10,downstream_gene_variant,,ENST00000429461,;FKBP10,downstream_gene_variant,,ENST00000585664,;FKBP10,downstream_gene_variant,,ENST00000585922,;FKBP10,3_prime_UTR_variant,,ENST00000489591,;FKBP10,non_coding_transcript_exon_variant,,ENST00000487489,;FKBP10,upstream_gene_variant,,ENST00000464180,;FKBP10,upstream_gene_variant,,ENST00000490938,;	1001	98	105	SUCCESS
AFMID	125061	.	GRCh37	17	76183452	76183452	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	45	0	ENST00000409257.5:c.1A>G	p.Met1?	p.M1?	ENST00000409257	NM_001010982.4	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS45801.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCATGATG	NONE	.	.	.	.	.	ENSP00000328938	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000327898	Transcript	.	.	ENSG00000183077	20910	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.61)	.	KFA_HUMAN	AFMID	HGNC	.	.	UPI000041A994	SNV	AFMID,start_lost,p.Met1?,ENST00000586542,;AFMID,start_lost,p.Met1?,ENST00000591256,;AFMID,start_lost,p.Met1?,ENST00000588800,;AFMID,start_lost,p.Met1?,ENST00000327898,;AFMID,start_lost,p.Met1?,ENST00000591952,;AFMID,start_lost,p.Met1?,ENST00000589256,;AFMID,start_lost,p.Met1?,ENST00000409257,;TK1,upstream_gene_variant,,ENST00000590862,;AFMID,upstream_gene_variant,,ENST00000586731,;TK1,upstream_gene_variant,,ENST00000586613,;TK1,upstream_gene_variant,,ENST00000590430,;TK1,upstream_gene_variant,,ENST00000405273,;TK1,upstream_gene_variant,,ENST00000301634,;TK1,upstream_gene_variant,,ENST00000588734,;AFMID,upstream_gene_variant,,ENST00000591538,;AFMID,start_lost,p.Met1?,ENST00000589107,;AFMID,start_lost,p.Met1?,ENST00000588199,;AFMID,non_coding_transcript_exon_variant,,ENST00000592988,;TK1,upstream_gene_variant,,ENST00000592126,;	10	45	39	SUCCESS
DNAH17	8632	.	GRCh37	17	76565546	76565546	+	synonymous_variant	Silent	SNP	G	G	A	rs563501310	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	79	0	ENST00000389840.5:c.1108C>T	p.Leu370=	p.L370=	ENST00000389840		370	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	.	1108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAGGACTT	BUFFER|p.E367K|c.1099G>A|3	byCluster	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000374490	.	8/81	.	.	.	.	.	.	.	.	rs563501310	8/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000589793,;	1233	79	72	SUCCESS
ME2	4200	.	GRCh37	18	48450496	48450496	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	23	155	0	ENST00000321341.5:c.1085A>T	p.Gln362Leu	p.Q362L	ENST00000321341	NM_002396.4	362	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS11948.1	1085	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCAGGAAC	NONE	.	.	hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF12,Gene3D:3.40.50.720,Pfam_domain:PF03949,SMART_domains:SM00919,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF51735	.	.	ENSP00000321070	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000321341	Transcript	.	.	ENSG00000082212	6984	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MAOM_HUMAN	ME2	HGNC	.	.	UPI000012EBAA	SNV	ME2,missense_variant,p.Gln362Leu,ENST00000382927,;ME2,missense_variant,p.Gln362Leu,ENST00000321341,;ME2,upstream_gene_variant,,ENST00000585680,;ME2,downstream_gene_variant,,ENST00000589330,;	1357	155	183	SUCCESS
CNDP2	55748	.	GRCh37	18	72183571	72183571	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	54	0	ENST00000324262.4:c.1012G>T	p.Gly338Cys	p.G338C	ENST00000324262	NM_018235.2	338	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS12006.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTGGCAAG	NONE	.	.	hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Pfam_domain:PF07687,Gene3D:3.30.70.360,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242	.	.	ENSP00000325548	.	9/12	.	.	.	.	.	.	.	.	COSM70212	9/12	PASS	ENST00000324262	Transcript	.	.	ENSG00000133313	24437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CNDP2_HUMAN	CNDP2	HGNC	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN	.	UPI00000463FE	SNV	CNDP2,missense_variant,p.Gly338Cys,ENST00000579847,;CNDP2,missense_variant,p.Gly338Cys,ENST00000324262,;CNDP2,missense_variant,p.Gly254Cys,ENST00000324301,;CNDP2,intron_variant,,ENST00000579624,;CNDP2,downstream_gene_variant,,ENST00000583785,;CNDP2,downstream_gene_variant,,ENST00000580672,;CNDP2,downstream_gene_variant,,ENST00000579583,;CNDP2,non_coding_transcript_exon_variant,,ENST00000583695,;CNDP2,downstream_gene_variant,,ENST00000577669,;CNDP2,downstream_gene_variant,,ENST00000582620,;CNDP2,non_coding_transcript_exon_variant,,ENST00000577409,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,non_coding_transcript_exon_variant,,ENST00000581600,;CNDP2,downstream_gene_variant,,ENST00000583938,;	1328	54	61	SUCCESS
CNDP2	55748	.	GRCh37	18	72183572	72183572	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	53	0	ENST00000324262.4:c.1013G>T	p.Gly338Val	p.G338V	ENST00000324262	NM_018235.2	338	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12006.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGCAAGT	NONE	.	.	hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Pfam_domain:PF07687,Gene3D:3.30.70.360,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242	.	.	ENSP00000325548	.	9/12	.	.	.	.	.	.	.	.	COSM1389710	9/12	PASS	ENST00000324262	Transcript	.	.	ENSG00000133313	24437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.968)	.	deleterious(0)	1	CNDP2_HUMAN	CNDP2	HGNC	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN	.	UPI00000463FE	SNV	CNDP2,missense_variant,p.Gly338Val,ENST00000579847,;CNDP2,missense_variant,p.Gly338Val,ENST00000324262,;CNDP2,missense_variant,p.Gly254Val,ENST00000324301,;CNDP2,intron_variant,,ENST00000579624,;CNDP2,downstream_gene_variant,,ENST00000583785,;CNDP2,downstream_gene_variant,,ENST00000580672,;CNDP2,downstream_gene_variant,,ENST00000579583,;CNDP2,non_coding_transcript_exon_variant,,ENST00000583695,;CNDP2,downstream_gene_variant,,ENST00000577669,;CNDP2,downstream_gene_variant,,ENST00000582620,;CNDP2,non_coding_transcript_exon_variant,,ENST00000577409,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,non_coding_transcript_exon_variant,,ENST00000581600,;CNDP2,downstream_gene_variant,,ENST00000583938,;	1329	53	59	SUCCESS
ZNF627	199692	.	GRCh37	19	11728045	11728045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	98	0	ENST00000361113.5:c.727A>G	p.Arg243Gly	p.R243G	ENST00000361113	NM_145295.3	243	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS42502.1	727	MUTECT|MUSE	.	ATGAAAGGACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000354414	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361113	Transcript	.	.	ENSG00000198551	30570	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	ZN627_HUMAN	ZNF627	HGNC	K7ELG4_HUMAN	.	UPI0000071491	SNV	ZNF627,missense_variant,p.Arg243Gly,ENST00000361113,;ZNF627,3_prime_UTR_variant,,ENST00000588174,;ZNF627,downstream_gene_variant,,ENST00000587939,;ZNF627,downstream_gene_variant,,ENST00000585493,;	935	98	82	SUCCESS
ZNF626	199777	.	GRCh37	19	20807980	20807980	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	29	0	ENST00000601440.1:c.703G>T	p.Gly235Cys	p.G235C	ENST00000601440	NM_001076675.2	235	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS42535.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCCACATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000469958	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000601440	Transcript	.	.	ENSG00000188171	30461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ZN626_HUMAN	ZNF626	HGNC	M0QY39_HUMAN,I0CMK8_HUMAN	.	UPI000035E843	SNV	ZNF626,missense_variant,p.Gly235Cys,ENST00000601440,;ZNF626,downstream_gene_variant,,ENST00000595405,;CTC-513N18.7,intron_variant,,ENST00000595094,;	850	29	38	SUCCESS
PLEKHG2	64857	.	GRCh37	19	39908236	39908236	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	58	0	ENST00000425673.1:c.786T>C	p.Gly262=	p.G262=	ENST00000425673		262	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS33022.2	786	MUSE|VARSCANS	.	GGGGGTCGCGA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF111,hmmpanther:PTHR22826,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000386733	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000409794	Transcript	.	.	ENSG00000090924	29515	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHG2_HUMAN	PLEKHG2	HGNC	.	.	UPI00001C2028	SNV	PLEKHG2,synonymous_variant,p.%3D,ENST00000205135,;PLEKHG2,synonymous_variant,p.%3D,ENST00000378550,;PLEKHG2,synonymous_variant,p.%3D,ENST00000409797,;PLEKHG2,synonymous_variant,p.%3D,ENST00000409794,;PLEKHG2,synonymous_variant,p.%3D,ENST00000425673,;PLEKHG2,synonymous_variant,p.%3D,ENST00000458508,;PLEKHG2,upstream_gene_variant,,ENST00000596443,;PLEKHG2,downstream_gene_variant,,ENST00000451354,;PLEKHG2,downstream_gene_variant,,ENST00000595920,;PLEKHG2,downstream_gene_variant,,ENST00000438123,;PLEKHG2,upstream_gene_variant,,ENST00000594307,;PLEKHG2,upstream_gene_variant,,ENST00000478523,;PLEKHG2,upstream_gene_variant,,ENST00000474449,;	1636	58	41	SUCCESS
SHC2	25759	.	GRCh37	19	436421	436421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	31	0	ENST00000264554.6:c.785A>G	p.Asp262Gly	p.D262G	ENST00000264554	NM_012435.2	262	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS45891.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAATCCGTC	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF5,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729,Prints_domain:PR00629	.	.	ENSP00000264554	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000264554	Transcript	.	.	ENSG00000129946	29869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SHC2_HUMAN	SHC2	HGNC	.	.	UPI0000DD84C2	SNV	SHC2,missense_variant,p.Asp83Gly,ENST00000590113,;SHC2,missense_variant,p.Asp262Gly,ENST00000264554,;SHC2,missense_variant,p.Asp39Gly,ENST00000591388,;SHC2,3_prime_UTR_variant,,ENST00000590222,;SHC2,non_coding_transcript_exon_variant,,ENST00000589922,;SHC2,upstream_gene_variant,,ENST00000590170,;	785	31	17	SUCCESS
SRRM5	100170229	.	GRCh37	19	44116772	44116772	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	36	0	ENST00000417606.1:c.499G>A	p.Gly167Arg	p.G167R	ENST00000417606	NM_001145641.1	167	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46095.1	499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGGAGC	NONE	.	.	.	.	.	ENSP00000476253	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000607544	Transcript	.	.	ENSG00000226763	37248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.26)	.	SRRM5_HUMAN	SRRM5	HGNC	.	.	UPI000059D73E	SNV	SRRM5,missense_variant,p.Gly182Arg,ENST00000526798,;SRRM5,missense_variant,p.Gly167Arg,ENST00000417606,;SRRM5,missense_variant,p.Gly167Arg,ENST00000607544,;ZNF428,intron_variant,,ENST00000598676,;ZNF428,intron_variant,,ENST00000300811,;ZNF428,downstream_gene_variant,,ENST00000595304,;	821	36	58	SUCCESS
PPP5C	5536	.	GRCh37	19	46857048	46857048	+	synonymous_variant	Silent	SNP	C	C	T	rs374930457	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	74	0	ENST00000012443.4:c.165C>T	p.Ile55=	p.I55=	ENST00000012443	NM_006247.3	55	atC/atT	0	T:0.0002	.	.	.	.	T	I	protein_coding	YES	CCDS12684.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGAGCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Pfam_domain:PF13414,Gene3D:1.25.40.10,PIRSF_domain:PIRSF033096,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	T:0	ENSP00000012443	.	2/13	.	.	.	.	.	.	.	.	rs374930457,COSM4079537	2/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,synonymous_variant,p.%3D,ENST00000012443,;PPP5C,5_prime_UTR_variant,,ENST00000391919,;PPP5C,synonymous_variant,p.%3D,ENST00000478046,;	268	74	77	SUCCESS
FEM1A	55527	.	GRCh37	19	4792915	4792915	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	25	0	ENST00000269856.3:c.1049A>C	p.Tyr350Ser	p.Y350S	ENST00000269856	NM_018708.2	350	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS12135.1	1049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTATTCCA	NONE	.	.	hmmpanther:PTHR24173:SF12,hmmpanther:PTHR24173	.	.	ENSP00000269856	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000269856	Transcript	.	.	ENSG00000141965	16934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.19)	.	FEM1A_HUMAN	FEM1A	HGNC	.	.	UPI0000073096	SNV	FEM1A,missense_variant,p.Tyr350Ser,ENST00000269856,;AC005523.3,upstream_gene_variant,,ENST00000598782,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;AC005523.2,downstream_gene_variant,,ENST00000596170,;	1188	25	43	SUCCESS
AP2A1	160	.	GRCh37	19	50309033	50309033	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs746056839	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	38	0	ENST00000359032.5:c.2650C>T	p.Leu884Phe	p.L884F	ENST00000359032	NM_014203.2	884	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46148.1	2650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCTGTGA	NONE	byFrequency	.	hmmpanther:PTHR22780:SF19,hmmpanther:PTHR22780,Gene3D:3.30.310.30,Pfam_domain:PF02296,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF55711	.	.	ENSP00000351926	.	21/24	.	.	.	.	.	.	.	.	rs746056839	21/24	PASS	ENST00000359032	Transcript	.	.	ENSG00000196961	561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0)	.	AP2A1_HUMAN	AP2A1	HGNC	Q8N9K4_HUMAN	.	UPI0000167B50	SNV	AP2A1,missense_variant,p.Leu862Phe,ENST00000354293,;AP2A1,missense_variant,p.Leu884Phe,ENST00000359032,;FUZ,downstream_gene_variant,,ENST00000445575,;FUZ,downstream_gene_variant,,ENST00000528094,;FUZ,downstream_gene_variant,,ENST00000313777,;FUZ,downstream_gene_variant,,ENST00000529634,;FUZ,downstream_gene_variant,,ENST00000533418,;AC006942.4,upstream_gene_variant,,ENST00000600669,;FUZ,downstream_gene_variant,,ENST00000527973,;AP2A1,splice_region_variant,,ENST00000594838,;AP2A1,splice_region_variant,,ENST00000597774,;AP2A1,non_coding_transcript_exon_variant,,ENST00000601356,;FUZ,downstream_gene_variant,,ENST00000377092,;FUZ,downstream_gene_variant,,ENST00000525370,;FUZ,downstream_gene_variant,,ENST00000534138,;FUZ,downstream_gene_variant,,ENST00000525130,;AP2A1,downstream_gene_variant,,ENST00000593788,;FUZ,downstream_gene_variant,,ENST00000528043,;AP2A1,downstream_gene_variant,,ENST00000600466,;	2650	39	44	SUCCESS
NKG7	4818	.	GRCh37	19	51875422	51875422	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	34	0	ENST00000221978.5:c.297T>C	p.Phe99=	p.F99=	ENST00000221978	NM_005601.3	99	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS12830.1	297	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAAAGGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF34,Pfam_domain:PF00822	.	.	ENSP00000221978	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000221978	Transcript	.	.	ENSG00000105374	7830	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NKG7_HUMAN	NKG7	HGNC	.	.	UPI00001301FE	SNV	NKG7,synonymous_variant,p.%3D,ENST00000595217,;NKG7,synonymous_variant,p.%3D,ENST00000221978,;NKG7,synonymous_variant,p.%3D,ENST00000600427,;NKG7,synonymous_variant,p.%3D,ENST00000595157,;NKG7,intron_variant,,ENST00000593572,;CLDND2,upstream_gene_variant,,ENST00000601435,;CLDND2,upstream_gene_variant,,ENST00000291715,;CLDND2,upstream_gene_variant,,ENST00000593841,;CTD-2616J11.11,upstream_gene_variant,,ENST00000600067,;	477	34	42	SUCCESS
ZNF350	59348	.	GRCh37	19	52468795	52468795	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	53	148	0	ENST00000243644.4:c.911A>C	p.Asn304Thr	p.N304T	ENST00000243644	NM_021632.3	304	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS12845.1	911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGATTTCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF11,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000243644	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000243644	Transcript	.	.	ENSG00000256683	16656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ZN350_HUMAN	ZNF350	HGNC	M0R1T8_HUMAN,M0R017_HUMAN,M0QYT6_HUMAN,M0QY52_HUMAN	.	UPI00000721F1	SNV	ZNF350,missense_variant,p.Asn304Thr,ENST00000243644,;ZNF350,downstream_gene_variant,,ENST00000593596,;ZNF350,downstream_gene_variant,,ENST00000594929,;ZNF350,downstream_gene_variant,,ENST00000601430,;ZNF350,downstream_gene_variant,,ENST00000597788,;HCCAT3,intron_variant,,ENST00000600253,;HCCAT3,intron_variant,,ENST00000595010,;ZNF350,downstream_gene_variant,,ENST00000600703,;ZNF350,downstream_gene_variant,,ENST00000598254,;	1139	148	175	SUCCESS
ZNF578	147660	.	GRCh37	19	53014979	53014979	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	31	97	1	ENST00000421239.2:c.1345C>A	p.His449Asn	p.H449N	ENST00000421239	NM_001099694.1	449	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS54310.1	1345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTCATACT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50157	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.His449Asn,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;	1589	98	111	SUCCESS
ZNF665	79788	.	GRCh37	19	53668481	53668481	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375603672	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	72	0	ENST00000600412.1:c.1067G>T	p.Arg356Leu	p.R356L	ENST00000600412		356	cGa/cTa	0	T:0.0005	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS46169.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCGATGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0.006	T:0	ENSP00000379702	T:0	4/4	.	.	.	.	.	.	.	.	rs375603672,COSM392351,COSM392350	4/4	PASS	ENST00000396424	Transcript	.	T:0.0012	ENSG00000197497	25885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.313)	T:0	tolerated(0.08)	0,1,1	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,missense_variant,p.Arg421Leu,ENST00000396424,;ZNF665,missense_variant,p.Arg356Leu,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	1352	72	89	SUCCESS
CACNG7	59284	.	GRCh37	19	54445427	54445427	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	53	0	ENST00000222212.2:c.708G>A	p.Ala236=	p.A236=	ENST00000222212	NM_031896.4	236	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12868.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGTGGCG	NONE	.	.	hmmpanther:PTHR12107:SF3,hmmpanther:PTHR12107	.	.	ENSP00000375647	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000391767	Transcript	.	.	ENSG00000105605	13626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCG7_HUMAN	CACNG7	HGNC	.	.	UPI00000010F1	SNV	CACNG7,synonymous_variant,p.%3D,ENST00000391767,;CACNG7,synonymous_variant,p.%3D,ENST00000222212,;CACNG7,downstream_gene_variant,,ENST00000391766,;CACNG7,downstream_gene_variant,,ENST00000468076,;	920	53	43	SUCCESS
NLRP7	199713	.	GRCh37	19	55453049	55453049	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	88	0	ENST00000340844.2:c.31C>G	p.Gln11Glu	p.Q11E	ENST00000340844	NM_206828.3	11	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS46183.1	31	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTGCAGAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106,Gene3D:1.10.533.10,Pfam_domain:PF02758,Superfamily_domains:SSF47986	.	.	ENSP00000467123	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.848)	.	deleterious(0.03)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Gln11Glu,ENST00000590659,;NLRP7,missense_variant,p.Gln11Glu,ENST00000587103,;NLRP7,missense_variant,p.Gln11Glu,ENST00000590030,;NLRP7,missense_variant,p.Gln39Glu,ENST00000446217,;NLRP7,missense_variant,p.Gln11Glu,ENST00000588756,;NLRP7,missense_variant,p.Gln11Glu,ENST00000448121,;NLRP7,missense_variant,p.Gln11Glu,ENST00000328092,;NLRP7,missense_variant,p.Gln11Glu,ENST00000587844,;NLRP7,missense_variant,p.Gln11Glu,ENST00000592784,;NLRP7,missense_variant,p.Gln11Glu,ENST00000340844,;NLRP7,missense_variant,p.Gln11Glu,ENST00000586379,;	518	88	91	SUCCESS
PEG3	5178	.	GRCh37	19	57326459	57326459	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	68	0	ENST00000326441.9:c.3351G>A	p.Val1117=	p.V1117=	ENST00000326441	NM_006210.2	1117	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12948.1	3351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCCACAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,synonymous_variant,p.%3D,ENST00000423103,;PEG3,synonymous_variant,p.%3D,ENST00000599577,;PEG3,synonymous_variant,p.%3D,ENST00000599534,;PEG3,synonymous_variant,p.%3D,ENST00000598410,;PEG3,synonymous_variant,p.%3D,ENST00000326441,;PEG3,synonymous_variant,p.%3D,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	3715	68	63	SUCCESS
MAP2K7	5609	.	GRCh37	19	7975100	7975100	+	intron_variant	Intron	SNP	G	G	T	rs757144085	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	54	0	ENST00000397979.3:c.334-45G>T		p.*112*	ENST00000397979	NM_145185.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42491.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGTGGCA	NONE	byFrequency	.	.	.	.	ENSP00000381066	.	.	.	.	.	.	.	.	.	.	rs757144085,COSM3707535	.	PASS	ENST00000397979	Transcript	.	.	ENSG00000076984	6847	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MP2K7_HUMAN	MAP2K7	HGNC	D6W660_HUMAN	.	UPI000012F494	SNV	MAP2K7,missense_variant,p.Gly140Val,ENST00000545011,;MAP2K7,intron_variant,,ENST00000397979,;MAP2K7,intron_variant,,ENST00000397981,;MAP2K7,intron_variant,,ENST00000397983,;CTD-3193O13.13,downstream_gene_variant,,ENST00000595655,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000468058,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000465324,;MAP2K7,intron_variant,,ENST00000494348,;MAP2K7,downstream_gene_variant,,ENST00000475022,;MAP2K7,upstream_gene_variant,,ENST00000498118,;	.	54	48	SUCCESS
ATXN7L2	127002	.	GRCh37	1	110029743	110029743	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	32	88	0	ENST00000369870.3:c.416del	p.Pro139GlnfsTer107	p.P139Qfs*107	ENST00000369870	NM_153340.4	138	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS30794.1	413	INDELOCATOR*|VARSCANI*|PINDEL	.	GTAGGGCCCCAG	NONE	.	.	hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF5	.	.	ENSP00000358886	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000369870	Transcript	.	.	ENSG00000162650	28713	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT7L2_HUMAN	ATXN7L2	HGNC	Q5T6C4_HUMAN	.	UPI0000470BE5	deletion	ATXN7L2,frameshift_variant,p.Pro139GlnfsTer107,ENST00000369870,;SYPL2,downstream_gene_variant,,ENST00000369872,;ATXN7L2,upstream_gene_variant,,ENST00000604728,;ATXN7L2,upstream_gene_variant,,ENST00000459635,;ATXN7L2,3_prime_UTR_variant,,ENST00000463678,;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000497545,;ATXN7L2,upstream_gene_variant,,ENST00000369869,;	428	88	129	SUCCESS
DENND2D	79961	.	GRCh37	1	111738547	111738547	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	27	0	ENST00000357640.4:c.636A>T	p.Ser212=	p.S212=	ENST00000357640	NM_024901.4	212	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS831.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGAGTC	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF2,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000350266	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000357640	Transcript	.	.	ENSG00000162777	26192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN2D_HUMAN	DENND2D	HGNC	Q8TCN6_HUMAN	.	UPI000006E1E1	SNV	DENND2D,synonymous_variant,p.%3D,ENST00000357640,;DENND2D,synonymous_variant,p.%3D,ENST00000369752,;CHI3L2,upstream_gene_variant,,ENST00000445067,;DENND2D,non_coding_transcript_exon_variant,,ENST00000473682,;DENND2D,non_coding_transcript_exon_variant,,ENST00000463713,;DENND2D,downstream_gene_variant,,ENST00000488786,;DENND2D,downstream_gene_variant,,ENST00000477586,;DENND2D,downstream_gene_variant,,ENST00000473822,;	866	27	28	SUCCESS
BCAN	63827	.	GRCh37	1	156628362	156628362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	54	0	ENST00000329117.5:c.2465C>A	p.Pro822His	p.P822H	ENST00000329117	NM_021948.4	822	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1149.1	2465	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCCCTGG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR22804,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000331210	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,missense_variant,p.Pro822His,ENST00000329117,;RP11-284F21.7,intron_variant,,ENST00000448869,;BCAN,non_coding_transcript_exon_variant,,ENST00000496038,;	2801	54	58	SUCCESS
OR6P1	128366	.	GRCh37	1	158533217	158533217	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	60	0	ENST00000334632.1:c.178T>A	p.Tyr60Asn	p.Y60N	ENST00000334632	NM_001160325.1	60	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS53391.1	178	RADIA|MUTECT|MUSE	.	AAAGTACATGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,missense_variant,p.Tyr60Asn,ENST00000334632,;	178	60	88	SUCCESS
SPTA1	6708	.	GRCh37	1	158655029	158655029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	71	96	0	ENST00000368147.4:c.133A>G	p.Arg45Gly	p.R45G	ENST00000368147	NM_003126.2	45	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS41423.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTCTCAG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.5.170,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	2/52	.	.	.	.	.	.	.	.	.	2/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,splice_donor_variant,,ENST00000467387,;SPTA1,missense_variant,p.Arg45Gly,ENST00000368147,;	314	96	149	SUCCESS
PIGM	93183	.	GRCh37	1	160001651	160001651	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	50	0	ENST00000368090.2:c.-122T>C		p.*41*	ENST00000368090	NM_145167.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1192.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGAAACGAC	NONE	.	.	.	.	.	ENSP00000357069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368090	Transcript	.	.	ENSG00000143315	18858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGM_HUMAN	PIGM	HGNC	.	.	UPI000006D9D7	SNV	PIGM,5_prime_UTR_variant,,ENST00000368090,;	133	50	74	SUCCESS
SFT2D2	375035	.	GRCh37	1	168195328	168195328	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	31	0	ENST00000271375.4:c.11T>C	p.Leu4Pro	p.L4P	ENST00000271375	NM_199344.2	4	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS1271.1	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTGAAGA	NONE	.	.	hmmpanther:PTHR23137,hmmpanther:PTHR23137:SF1	.	.	ENSP00000271375	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000271375	Transcript	.	.	ENSG00000213064	25140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	SFT2B_HUMAN	SFT2D2	HGNC	.	.	UPI0000072549	SNV	SFT2D2,missense_variant,p.Leu4Pro,ENST00000367829,;SFT2D2,missense_variant,p.Leu4Pro,ENST00000367825,;SFT2D2,missense_variant,p.Leu4Pro,ENST00000271375,;SFT2D2,non_coding_transcript_exon_variant,,ENST00000471981,;	83	31	22	SUCCESS
SELE	6401	.	GRCh37	1	169702100	169702100	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	16	80	0	ENST00000333360.7:c.77C>A	p.Thr26Asn	p.T26N	ENST00000333360	NM_000450.2	26	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS1283.1	77	RADIA|MUSE|VARSCANS	.	TGGAGGTGTTG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR19325:SF336,hmmpanther:PTHR19325,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000331736	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000333360	Transcript	.	.	ENSG00000007908	10718	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.051)	.	tolerated(0.29)	.	LYAM2_HUMAN	SELE	HGNC	.	.	UPI000012E44A	SNV	SELE,missense_variant,p.Thr26Asn,ENST00000367776,;SELE,missense_variant,p.Thr26Asn,ENST00000367779,;SELE,missense_variant,p.Thr26Asn,ENST00000367775,;SELE,missense_variant,p.Thr26Asn,ENST00000333360,;SELE,missense_variant,p.Thr26Asn,ENST00000367782,;SELE,missense_variant,p.Thr26Asn,ENST00000367781,;SELE,missense_variant,p.Thr26Asn,ENST00000367780,;SELE,missense_variant,p.Thr26Asn,ENST00000367774,;SELE,missense_variant,p.Thr26Asn,ENST00000367777,;SELE,downstream_gene_variant,,ENST00000609271,;C1orf112,intron_variant,,ENST00000498289,;SELE,upstream_gene_variant,,ENST00000461085,;	217	80	124	SUCCESS
RGS16	6004	.	GRCh37	1	182572454	182572454	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753151197	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	31	128	1	ENST00000367558.5:c.65G>A	p.Arg22His	p.R22H	ENST00000367558	NM_002928.3	22	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS1348.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACGTGTC	NONE	.	.	hmmpanther:PTHR10845	.	.	ENSP00000356529	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000367558	Transcript	.	.	ENSG00000143333	9997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	RGS16_HUMAN	RGS16	HGNC	.	.	UPI000013D8E9	SNV	RGS16,missense_variant,p.Arg22His,ENST00000367558,;	214	129	138	SUCCESS
HHAT	55733	.	GRCh37	1	210637950	210637950	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143700139	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	64	126	1	ENST00000261458.3:c.958G>A	p.Ala320Thr	p.A320T	ENST00000261458	NM_018194.4	320	Gcc/Acc	0	A:0.0002	.	.	.	.	A	A/T	protein_coding	YES	CCDS53471.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGCCCTC	NONE	byCluster	.	hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20,Pfam_domain:PF03062	.	A:0	ENSP00000438468	.	7/11	.	.	.	.	.	.	.	.	rs143700139,COSM1338563	7/11	PASS	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.043)	.	tolerated(0.1)	0,1	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Ala257Thr,ENST00000545781,;HHAT,missense_variant,p.Ala320Thr,ENST00000367010,;HHAT,missense_variant,p.Ala320Thr,ENST00000413764,;HHAT,missense_variant,p.Ala255Thr,ENST00000537898,;HHAT,missense_variant,p.Ala275Thr,ENST00000308852,;HHAT,missense_variant,p.Ala321Thr,ENST00000545154,;HHAT,missense_variant,p.Ala320Thr,ENST00000391905,;HHAT,missense_variant,p.Ala183Thr,ENST00000541565,;HHAT,missense_variant,p.Ala10Thr,ENST00000367009,;HHAT,missense_variant,p.Ala320Thr,ENST00000261458,;HHAT,missense_variant,p.Ala192Thr,ENST00000426968,;RP5-879K22.1,upstream_gene_variant,,ENST00000605288,;	1066	127	153	SUCCESS
FAM71A	149647	.	GRCh37	1	212799352	212799352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	26	69	0	ENST00000294829.3:c.1133C>A	p.Thr378Asn	p.T378N	ENST00000294829	NM_153606.3	378	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS1507.1	1133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGACCAGCA	NONE	.	.	hmmpanther:PTHR22574:SF9,hmmpanther:PTHR22574	.	.	ENSP00000294829	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000294829	Transcript	.	.	ENSG00000162771	26541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	deleterious(0)	.	FA71A_HUMAN	FAM71A	HGNC	.	.	UPI000013E1C2	SNV	FAM71A,missense_variant,p.Thr378Asn,ENST00000294829,;RP11-338C15.5,non_coding_transcript_exon_variant,,ENST00000427949,;	1564	70	99	SUCCESS
SH3BP5L	80851	.	GRCh37	1	249106250	249106250	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777717782	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	12	0	ENST00000366472.5:c.1031A>G	p.Asp344Gly	p.D344G	ENST00000366472	NM_030645.1	344	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS31126.1	1031	RADIA|MUTECT|MUSE	.	GCAGGTCTGAA	NONE	byFrequency	.	hmmpanther:PTHR19423	.	.	ENSP00000355428	.	7/7	.	.	.	.	.	.	.	.	rs777717782	7/7	PASS	ENST00000366472	Transcript	.	.	ENSG00000175137	29360	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0)	.	3BP5L_HUMAN	SH3BP5L	HGNC	Q96MW4_HUMAN,Q96ET3_HUMAN	.	UPI000003F53A	SNV	SH3BP5L,missense_variant,p.Asp312Gly,ENST00000411742,;SH3BP5L,missense_variant,p.Asp344Gly,ENST00000366472,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000475978,;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000484202,;SH3BP5L,downstream_gene_variant,,ENST00000494837,;	2261	12	15	SUCCESS
ZMYND12	84217	.	GRCh37	1	42914268	42914268	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	116	0	ENST00000372565.3:c.294C>A	p.Tyr98Ter	p.Y98*	ENST00000372565	NM_032257.4	98	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS467.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGTATTT	NONE	.	.	hmmpanther:PTHR12298,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000361646	.	3/8	.	.	.	.	.	.	.	.	COSM4169374	3/8	PASS	ENST00000372565	Transcript	.	.	ENSG00000066185	21192	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZMY12_HUMAN	ZMYND12	HGNC	.	.	UPI000020587B	SNV	ZMYND12,stop_gained,p.Tyr98Ter,ENST00000372565,;ZMYND12,intron_variant,,ENST00000433602,;ZMYND12,intron_variant,,ENST00000461083,;	564	116	85	SUCCESS
CRYZ	1429	.	GRCh37	1	75190517	75190517	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	T	T	C	rs762457506	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	122	0	ENST00000340866.5:c.-12A>G		p.X4_splice	ENST00000340866	NM_001889.3	4		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS665.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGATACTAA	NONE	.	.	.	.	.	ENSP00000399805	.	3/10	.	.	.	.	.	.	.	.	rs762457506	3/10	PASS	ENST00000417775	Transcript	.	.	ENSG00000116791	2419	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QOR_HUMAN	CRYZ	HGNC	C9JH92_HUMAN,A6NP24_HUMAN	.	UPI0000001C81	SNV	CRYZ,splice_region_variant,,ENST00000441120,;CRYZ,splice_region_variant,,ENST00000417775,;CRYZ,splice_region_variant,,ENST00000340866,;CRYZ,splice_region_variant,,ENST00000370871,;CRYZ,splice_region_variant,,ENST00000370870,;CRYZ,intron_variant,,ENST00000370872,;	494	122	141	SUCCESS
RPL5	6125	.	GRCh37	1	93307405	93307405	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200315052	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	43	89	0	ENST00000370321.3:c.877C>T	p.Arg293Trp	p.R293W	ENST00000370321	NM_000969.3	293	Cgg/Tgg	0	.	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS741.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCGGGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR23410	T:0.001	.	ENSP00000359345	T:0	8/8	.	.	.	.	.	.	.	.	rs200315052,COSM1344935	8/8	PASS	ENST00000370321	Transcript	.	T:0.0002	ENSG00000122406	10360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.898)	T:0	tolerated(0.14)	0,1	RL5_HUMAN	RPL5	HGNC	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN	.	UPI00000702C9	SNV	RPL5,missense_variant,p.Arg293Trp,ENST00000370321,;FAM69A,downstream_gene_variant,,ENST00000370310,;RPL5,downstream_gene_variant,,ENST00000315741,;SNORA66,downstream_gene_variant,,ENST00000384792,;SNORA66,downstream_gene_variant,,ENST00000515986,;SNORD21,downstream_gene_variant,,ENST00000383953,;SNORA51,upstream_gene_variant,,ENST00000384295,;RPL5,non_coding_transcript_exon_variant,,ENST00000497519,;	967	89	149	SUCCESS
SNTA1	6640	.	GRCh37	20	32000381	32000381	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	40	0	ENST00000217381.2:c.909G>A		p.X303_splice	ENST00000217381	NM_003098.2	303	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13220.1	909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACCTGCTC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10554:SF6,hmmpanther:PTHR10554,SMART_domains:SM00233	.	.	ENSP00000217381	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000217381	Transcript	1	.	ENSG00000101400	11167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNTA1_HUMAN	SNTA1	HGNC	B3KTR0_HUMAN	.	UPI0000135B08	SNV	SNTA1,synonymous_variant,p.%3D,ENST00000217381,;	1181	40	40	SUCCESS
CDH4	1002	.	GRCh37	20	60348088	60348088	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	47	0	ENST00000360469.5:c.426G>T	p.Leu142=	p.L142=	ENST00000360469	NM_001794.3	142	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13488.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGGACCC	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81	.	.	ENSP00000353656	.	4/16	.	.	.	.	.	.	.	.	COSM3963740	4/16	PASS	ENST00000360469	Transcript	.	.	ENSG00000179242	1763	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CADH4_HUMAN	CDH4	HGNC	Q8ND09_HUMAN	.	UPI000015FE86	SNV	CDH4,synonymous_variant,p.%3D,ENST00000543233,;CDH4,synonymous_variant,p.%3D,ENST00000360469,;	514	47	43	SUCCESS
BIRC7	79444	.	GRCh37	20	61867529	61867529	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs745552534	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	55	0	ENST00000217169.3:c.82del	p.Glu28SerfsTer13	p.E28Sfs*13	ENST00000217169	NM_139317.2	27	caG/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS13513.1	81	INDELOCATOR*|VARSCANI*|PINDEL	.	CACGCAGGAGCG	NONE	.	.	.	.	.	ENSP00000217169	.	1/7	.	.	.	.	.	.	.	.	rs745552534	1/7	PASS	ENST00000217169	Transcript	.	.	ENSG00000101197	13702	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BIRC7_HUMAN	BIRC7	HGNC	.	.	UPI00001269A6	deletion	BIRC7,frameshift_variant,p.Glu28SerfsTer13,ENST00000217169,;BIRC7,frameshift_variant,p.Glu28SerfsTer13,ENST00000342412,;NKAIN4,downstream_gene_variant,,ENST00000370316,;NKAIN4,downstream_gene_variant,,ENST00000370313,;BIRC7,upstream_gene_variant,,ENST00000395306,;MIR3196,upstream_gene_variant,,ENST00000579556,;NKAIN4,downstream_gene_variant,,ENST00000466885,;	295	55	65	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19651306	19651306	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	80	0	ENST00000284885.3:c.2739T>G	p.Ala913=	p.A913=	ENST00000284885	NM_002772.2	913	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13571.1	2739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCAGCAAT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000284885	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,synonymous_variant,p.%3D,ENST00000284885,;	2773	80	72	SUCCESS
GUSBP11	91316	.	GRCh37	22	24034460	24034460	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	77	0	ENST00000455485.1:n.879C>T		p.*293*	ENST00000455485				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13811.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGCCCTG	NONE	.	.	.	.	.	ENSP00000290691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290691	Transcript	.	.	ENSG00000159496	31911	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGDSR_HUMAN	RGL4	HGNC	B5MCW5_HUMAN	.	UPI00000740FE	SNV	RGL4,intron_variant,,ENST00000290691,;RGL4,intron_variant,,ENST00000423392,;RGL4,intron_variant,,ENST00000401461,;RGL4,upstream_gene_variant,,ENST00000452208,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000417194,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000455485,;KB-1572G7.2,intron_variant,,ENST00000421064,;GUSBP11,intron_variant,,ENST00000422506,;GUSBP11,intron_variant,,ENST00000452737,;GUSBP11,intron_variant,,ENST00000445682,;GUSBP11,intron_variant,,ENST00000451837,;AP000347.2,upstream_gene_variant,,ENST00000451919,;AP000347.2,upstream_gene_variant,,ENST00000458554,;KB-1572G7.2,upstream_gene_variant,,ENST00000423913,;AP000347.2,upstream_gene_variant,,ENST00000438858,;GUSBP11,upstream_gene_variant,,ENST00000608454,;AP000347.2,upstream_gene_variant,,ENST00000437862,;RGL4,non_coding_transcript_exon_variant,,ENST00000460003,;RGL4,non_coding_transcript_exon_variant,,ENST00000467354,;RGL4,intron_variant,,ENST00000441897,;AP000347.2,intron_variant,,ENST00000435868,;	.	77	75	SUCCESS
ZNRF3	84133	.	GRCh37	22	29445870	29445871	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	34	0	ENST00000544604.2:c.1703_1704del	p.Val568GlyfsTer5	p.V568Gfs*5	ENST00000544604	NM_001206998.1	567	tcTGtg/tctg	0	.	.	.	.	.	-	SV/SX	protein_coding	YES	CCDS56225.1	1701-1702	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACTCTGTGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200	.	.	ENSP00000443824	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000544604	Transcript	.	.	ENSG00000183579	18126	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNRF3_HUMAN	ZNRF3	HGNC	.	.	UPI0000EE5944	deletion	ZNRF3,frameshift_variant,p.Val468GlyfsTer5,ENST00000406323,;ZNRF3,frameshift_variant,p.Val468GlyfsTer5,ENST00000332811,;ZNRF3,frameshift_variant,p.Val468GlyfsTer5,ENST00000402174,;ZNRF3,frameshift_variant,p.Val568GlyfsTer5,ENST00000544604,;	1876-1877	34	40	SUCCESS
FBLN1	2192	.	GRCh37	22	45946402	45946402	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	35	0	ENST00000327858.6:c.1604A>G	p.Asn535Ser	p.N535S	ENST00000327858	NM_006486.2	535	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS14067.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAACTGCT	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57196,Superfamily_domains:SSF57184	.	.	ENSP00000331544	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	tolerated(0.18)	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Asn573Ser,ENST00000402984,;FBLN1,missense_variant,p.Asn535Ser,ENST00000442170,;FBLN1,missense_variant,p.Asn535Ser,ENST00000262722,;FBLN1,missense_variant,p.Asn535Ser,ENST00000340923,;FBLN1,missense_variant,p.Asn535Ser,ENST00000348697,;FBLN1,missense_variant,p.Asn535Ser,ENST00000327858,;FBLN1,non_coding_transcript_exon_variant,,ENST00000476366,;	1699	35	42	SUCCESS
PPARA	5465	.	GRCh37	22	46594485	46594485	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	46	1	ENST00000262735.5:c.205A>G	p.Thr69Ala	p.T69A	ENST00000262735	NM_005036.4	69	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33669.1	205	MUTECT|MUSE	.	TCATCACGGGT	NONE	.	.	Prints_domain:PR01289,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF197	.	.	ENSP00000379322	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000396000	Transcript	.	.	ENSG00000186951	9232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	.	tolerated_low_confidence(0.75)	.	PPARA_HUMAN	PPARA	HGNC	F1D8S4_HUMAN,B0QYX2_HUMAN	.	UPI000000D8E0	SNV	PPARA,missense_variant,p.Thr69Ala,ENST00000262735,;PPARA,missense_variant,p.Thr69Ala,ENST00000420804,;PPARA,missense_variant,p.Thr69Ala,ENST00000396000,;PPARA,missense_variant,p.Thr69Ala,ENST00000434345,;PPARA,missense_variant,p.Thr69Ala,ENST00000402126,;PPARA,missense_variant,p.Thr69Ala,ENST00000415785,;PPARA,missense_variant,p.Thr69Ala,ENST00000407236,;PPARA,downstream_gene_variant,,ENST00000440343,;PPARA,downstream_gene_variant,,ENST00000481567,;PPARA,downstream_gene_variant,,ENST00000484619,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,;	470	47	37	SUCCESS
CERK	64781	.	GRCh37	22	47085919	47085919	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	15	0	ENST00000216264.8:c.1511A>G	p.Glu504Gly	p.E504G	ENST00000216264	NM_022766.5	504	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS14077.1	1511	MUTECT|MUSE	.	GGACCTCCCCG	NONE	.	.	hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF25,Superfamily_domains:SSF111331	.	.	ENSP00000216264	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000216264	Transcript	.	.	ENSG00000100422	19256	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	CERK1_HUMAN	CERK	HGNC	Q6NX59_HUMAN	.	UPI000004BBBD	SNV	CERK,missense_variant,p.Glu504Gly,ENST00000216264,;CERK,missense_variant,p.Glu306Gly,ENST00000541677,;CERK,downstream_gene_variant,,ENST00000471929,;CERK,3_prime_UTR_variant,,ENST00000443629,;	1624	15	17	SUCCESS
BUB1	699	.	GRCh37	2	111399745	111399745	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	20	191	0	ENST00000302759.6:c.2414C>T	p.Thr805Ile	p.T805I	ENST00000302759	NM_004336.4	805	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS33273.1	2414	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGTAGCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR14030:SF3,hmmpanther:PTHR14030,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000302530	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000302759	Transcript	.	.	ENSG00000169679	1148	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated(0.09)	.	BUB1_HUMAN	BUB1	HGNC	Q9BXX5_HUMAN,C9JRC7_HUMAN,C9JQA4_HUMAN,C9IYH4_HUMAN	.	UPI00000012C4	SNV	BUB1,missense_variant,p.Thr805Ile,ENST00000409311,;BUB1,missense_variant,p.Thr805Ile,ENST00000302759,;BUB1,missense_variant,p.Thr785Ile,ENST00000535254,;BUB1,non_coding_transcript_exon_variant,,ENST00000478175,;BUB1,non_coding_transcript_exon_variant,,ENST00000466333,;	2533	191	210	SUCCESS
PSD4	23550	.	GRCh37	2	113940279	113940279	+	synonymous_variant	Silent	SNP	C	C	T	rs147089589	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	63	1	ENST00000245796.6:c.246C>T	p.Asp82=	p.D82=	ENST00000245796	NM_012455.2	82	gaC/gaT	0	T:0.0002	.	.	.	.	T	D	protein_coding	YES	CCDS33276.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGGGCT	SITE|p.D82D|c.246C>T|4	byCluster	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65	.	T:0.0001	ENSP00000245796	.	2/17	.	.	.	.	.	.	.	.	rs147089589,COSM1325977	2/17	PASS	ENST00000245796	Transcript	.	.	ENSG00000125637	19096	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PSD4_HUMAN	PSD4	HGNC	B3KN27_HUMAN	.	UPI00004A0748	SNV	PSD4,synonymous_variant,p.%3D,ENST00000441564,;PSD4,synonymous_variant,p.%3D,ENST00000245796,;PSD4,non_coding_transcript_exon_variant,,ENST00000465917,;PSD4,intron_variant,,ENST00000485525,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	441	64	81	SUCCESS
LRP1B	53353	.	GRCh37	2	141806729	141806729	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	63	175	0	ENST00000389484.3:c.1615G>T	p.Asp539Tyr	p.D539Y	ENST00000389484	NM_018557.2	539	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2182.1	1615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCCATTC	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	11/91	.	.	.	.	.	.	.	.	COSM1256756,COSM1213725	11/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.861)	.	.	1,1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Asp539Tyr,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	2587	175	209	SUCCESS
FMNL2	114793	.	GRCh37	2	153471433	153471433	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	144	0	ENST00000288670.9:c.1131T>C	p.Asp377=	p.D377=	ENST00000288670	NM_052905.3	377	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS46429.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGATGTAGG	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06367,Superfamily_domains:SSF48371	.	.	ENSP00000288670	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,synonymous_variant,p.%3D,ENST00000288670,;FMNL2,upstream_gene_variant,,ENST00000475377,;	1498	144	124	SUCCESS
RPRM	56475	.	GRCh37	2	154334986	154334986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	27	0	ENST00000325926.3:c.94C>A	p.Gln32Lys	p.Q32K	ENST00000325926	NM_019845.2	32	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS2198.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTGGGTGC	NONE	.	.	.	.	.	ENSP00000314946	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325926	Transcript	.	.	ENSG00000177519	24201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.94)	.	RPRM_HUMAN	RPRM	HGNC	.	.	UPI0000072BEC	SNV	RPRM,missense_variant,p.Gln32Lys,ENST00000325926,;AC012501.2,intron_variant,,ENST00000424322,;	337	27	29	SUCCESS
CYCTP	360163	.	GRCh37	2	178969026	178969026	+	splice_region_variant,intron_variant,non_coding_transcript_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	33	124	0	ENST00000504253.1:n.169+3A>T		p.X57_splice	ENST00000504253		57		0	.	.	.	.	.	A	.	unitary_pseudogene	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTACCTT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000504253	Transcript	.	.	ENSG00000249909	24424	.	.	LOW	1/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CYCTP	HGNC	.	.	.	SNV	PDE11A,splice_region_variant,,ENST00000358450,;CYCTP,splice_region_variant,,ENST00000504253,;AC011998.4,upstream_gene_variant,,ENST00000433403,;	.	124	129	SUCCESS
TTN	7273	.	GRCh37	2	179436094	179436094	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	45	135	0	ENST00000591111.1:c.69842G>C	p.Arg23281Thr	p.R23281T	ENST00000591111		23281	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS59435.1	74765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCTGGAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	COSM1565405,COSM1565404,COSM1565401,COSM1565403,COSM1565402	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg15982Thr,ENST00000359218,;TTN,missense_variant,p.Arg23281Thr,ENST00000591111,;TTN,missense_variant,p.Arg24922Thr,ENST00000589042,;TTN,missense_variant,p.Arg16049Thr,ENST00000342175,;TTN,missense_variant,p.Arg22354Thr,ENST00000342992,;TTN,missense_variant,p.Arg15857Thr,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000438095,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	74990	135	163	SUCCESS
TTN	7273	.	GRCh37	2	179636192	179636192	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753441258	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	15	98	0	ENST00000591111.1:c.7862C>A	p.Ala2621Asp	p.A2621D	ENST00000591111		2621	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS59435.1	7862	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCCCCA	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	34/363	.	.	.	.	.	.	.	.	rs753441258,COSM1403358,COSM1403357,COSM1403354,COSM1403356,COSM1403355,COSM1403359	34/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala2621Asp,ENST00000360870,;TTN,missense_variant,p.Ala2575Asp,ENST00000359218,;TTN,missense_variant,p.Ala2621Asp,ENST00000342992,;TTN,missense_variant,p.Ala2575Asp,ENST00000342175,;TTN,missense_variant,p.Ala2621Asp,ENST00000589042,;TTN,missense_variant,p.Ala2621Asp,ENST00000591111,;TTN,missense_variant,p.Ala2575Asp,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;	8087	98	113	SUCCESS
ITGA4	3676	.	GRCh37	2	182358113	182358113	+	synonymous_variant	Silent	SNP	C	C	T	rs754585299	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	26	102	0	ENST00000397033.2:c.1215C>T	p.Gly405=	p.G405=	ENST00000397033	NM_000885.4	405	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42788.1	1215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCCGTGC	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000380227	.	11/28	.	.	.	.	.	.	.	.	rs754585299	11/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,synonymous_variant,p.%3D,ENST00000233573,;ITGA4,synonymous_variant,p.%3D,ENST00000397033,;ITGA4,non_coding_transcript_exon_variant,,ENST00000473002,;ITGA4,upstream_gene_variant,,ENST00000490435,;	1645	102	110	SUCCESS
STAT4	6775	.	GRCh37	2	191927489	191927489	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	41	111	0	ENST00000358470.4:c.940A>G	p.Asn314Asp	p.N314D	ENST00000358470	NM_001243835.1	314	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS2310.1	940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTCTTGA	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Pfam_domain:PF01017,Gene3D:1bg1A01,Superfamily_domains:SSF47655	.	.	ENSP00000376134	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000392320	Transcript	.	.	ENSG00000138378	11365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.02)	.	STAT4_HUMAN	STAT4	HGNC	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN	.	UPI00000015F2	SNV	STAT4,missense_variant,p.Asn314Asp,ENST00000358470,;STAT4,missense_variant,p.Asn314Asp,ENST00000392320,;STAT4,splice_region_variant,,ENST00000495849,;	1255	111	144	SUCCESS
APOB	338	.	GRCh37	2	21232125	21232125	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs148170480	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	12	94	0	ENST00000233242.1:c.7615del	p.Val2539Ter	p.V2539*	ENST00000233242	NM_000384.2	2539	Gta/ta	0	T:0.0005	T:0	.	T:0	.	-	V/X	protein_coding	YES	CCDS1703.1	7615	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCTACCAGAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	T:0	T:0.0034	ENSP00000233242	T:0.004	26/29	.	.	.	.	.	.	.	.	rs148170480	26/29	PASS	ENST00000233242	Transcript	.	T:0.0016	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.0041	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Val2539Ter,ENST00000233242,;	7743	94	130	SUCCESS
TRIP12	9320	.	GRCh37	2	230724096	230724096	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs532583604	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	66	151	0	ENST00000283943.5:c.293C>T	p.Thr98Ile	p.T98I	ENST00000283943	NM_004238.1	98	aCt/aTt	0	.	C:0	.	C:0	.	A	T/I	protein_coding	YES	CCDS33391.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGTATGC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	C:0	.	ENSP00000283943	C:0	3/41	.	.	.	.	.	.	.	.	rs532583604	3/41	PASS	ENST00000283943	Transcript	.	C:0.0004	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0.002	tolerated_low_confidence(0.2)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Thr140Ile,ENST00000543084,;TRIP12,missense_variant,p.Thr98Ile,ENST00000343290,;TRIP12,missense_variant,p.Thr140Ile,ENST00000409677,;TRIP12,missense_variant,p.Thr140Ile,ENST00000389044,;TRIP12,missense_variant,p.Thr98Ile,ENST00000283943,;TRIP12,missense_variant,p.Thr140Ile,ENST00000430954,;TRIP12,missense_variant,p.Thr98Ile,ENST00000428959,;TRIP12,missense_variant,p.Thr98Ile,ENST00000435716,;TRIP12,intron_variant,,ENST00000389045,;TRIP12,upstream_gene_variant,,ENST00000453485,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;	472	151	193	SUCCESS
IQCA1	79781	.	GRCh37	2	237406078	237406078	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200469019	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	34	120	0	ENST00000409907.3:c.64G>A	p.Asp22Asn	p.D22N	ENST00000409907	NM_024726.4	22	Gat/Aat	0	T:0.0003	T:0.0015	.	T:0	.	T	D/N	protein_coding	YES	CCDS46549.1	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCGAGTA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2	T:0	T:0.0004	ENSP00000387347	T:0	2/19	.	.	.	.	.	.	.	.	rs200469019	2/19	PASS	ENST00000409907	Transcript	.	T:0.0006	ENSG00000132321	26195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	T:0.001	tolerated(0.14)	.	IQCA1_HUMAN	IQCA1	HGNC	Q53SG8_HUMAN	.	UPI000000DA5B	SNV	IQCA1,missense_variant,p.Asp18Asn,ENST00000309507,;IQCA1,missense_variant,p.Asp22Asn,ENST00000409907,;IQCA1,missense_variant,p.Asp41Asn,ENST00000418802,;IQCA1,missense_variant,p.Asp22Asn,ENST00000431676,;IQCA1,missense_variant,p.Asp22Asn,ENST00000254653,;	339	120	148	SUCCESS
IFT172	26160	.	GRCh37	2	27709063	27709063	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	96	0	ENST00000260570.3:c.40-693T>A		p.*14*	ENST00000260570	NM_015662.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1755.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAAACAGG	NONE	.	.	.	.	.	ENSP00000260570	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260570	Transcript	.	.	ENSG00000138002	30391	.	.	MODIFIER	1/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF172_HUMAN	IFT172	HGNC	H7C161_HUMAN	.	UPI0000353ABB	SNV	IFT172,5_prime_UTR_variant,,ENST00000416524,;IFT172,intron_variant,,ENST00000359466,;IFT172,intron_variant,,ENST00000260570,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,intron_variant,,ENST00000476264,;IFT172,intron_variant,,ENST00000511842,;IFT172,intron_variant,,ENST00000475476,;	.	96	126	SUCCESS
ALLC	55821	.	GRCh37	2	3727570	3727570	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374153308	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	90	1	ENST00000252505.3:c.284C>T	p.Ala95Val	p.A95V	ENST00000252505	NM_018436.3	95	gCa/gTa	0	A:0.0002	.	.	.	.	T	A/V	protein_coding	YES	CCDS46223.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCAAACT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12045,Pfam_domain:PF03561,TIGRFAM_domain:TIGR02961,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	A:0	ENSP00000252505	.	5/12	.	.	.	.	.	.	.	.	rs374153308	5/12	PASS	ENST00000252505	Transcript	.	.	ENSG00000151360	17377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	ALLC_HUMAN	ALLC	HGNC	B4DY77_HUMAN	.	UPI000050BBEF	SNV	ALLC,missense_variant,p.Ala95Val,ENST00000252505,;	446	91	100	SUCCESS
ITGB5	3693	.	GRCh37	3	124540317	124540317	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	42	0	ENST00000296181.4:c.785A>C	p.Lys262Thr	p.K262T	ENST00000296181	NM_002213.3	262	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS3030.1	785	RADIA|MUTECT|MUSE|VARSCANS	.	CAATCTTCTCC	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00327,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	.	.	ENSP00000296181	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000296181	Transcript	.	.	ENSG00000082781	6160	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	ITB5_HUMAN	ITGB5	HGNC	L7RT22_HUMAN,D3DNA1_HUMAN	.	UPI000012DA10	SNV	ITGB5,missense_variant,p.Lys59Thr,ENST00000496703,;ITGB5,missense_variant,p.Lys262Thr,ENST00000296181,;ITGB5,intron_variant,,ENST00000488466,;ITGB5,upstream_gene_variant,,ENST00000481591,;ITGB5,non_coding_transcript_exon_variant,,ENST00000476988,;ITGB5,3_prime_UTR_variant,,ENST00000465464,;	1082	42	39	SUCCESS
FOXL2	668	.	GRCh37	3	138665659	138665659	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	31	0	ENST00000330315.3:c.-95T>A		p.*32*	ENST00000330315	NM_023067.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3105.1	.	MUTECT|MUSE	.	CGGCCAAGTCT	NONE	.	.	.	.	.	ENSP00000333188	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330315	Transcript	.	.	ENSG00000183770	1092	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXL2_HUMAN	FOXL2	HGNC	Q53ZD3_HUMAN,Q4JHB7_HUMAN,Q4JHB5_HUMAN	.	UPI0000050DB3	SNV	FOXL2,5_prime_UTR_variant,,ENST00000330315,;C3orf72,upstream_gene_variant,,ENST00000383165,;RP11-548O1.3,upstream_gene_variant,,ENST00000483650,;RP11-548O1.3,upstream_gene_variant,,ENST00000495287,;RP11-548O1.3,upstream_gene_variant,,ENST00000477059,;C3orf72,upstream_gene_variant,,ENST00000470680,;C3orf72,upstream_gene_variant,,ENST00000498709,;	324	31	28	SUCCESS
MUC4	4585	.	GRCh37	3	195513177	195513177	+	synonymous_variant	Silent	SNP	G	G	T	rs781289232	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	40	287	0	ENST00000463781.3:c.5274C>A	p.Ala1758=	p.A1758=	ENST00000463781	NM_018406.6	1758	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54700.1	5274	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTGGCCTG	BUFFER|p.P1760S|c.5278C>T|4,BUFFER|p.P1760S|c.5278C>T|4,BUFFER|p.Q1757H|c.5271G>C|5,BUFFER|p.Q1757H|c.5271G>C|5	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	rs781289232	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	5734	287	294	SUCCESS
CHL1	10752	.	GRCh37	3	361529	361529	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1227512880	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	25	0	ENST00000397491.2:c.70G>T	p.Ala24Ser	p.A24S	ENST00000397491		24	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS2556.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGCAATT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	.	.	ENSP00000256509	.	3/28	.	.	.	.	.	.	.	.	COSM1043810	3/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.516)	.	tolerated(0.12)	1	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Ala24Ser,ENST00000449294,;CHL1,missense_variant,p.Ala24Ser,ENST00000397491,;CHL1,missense_variant,p.Ala24Ser,ENST00000421198,;CHL1,missense_variant,p.Ala24Ser,ENST00000427688,;CHL1,missense_variant,p.Ala24Ser,ENST00000435603,;CHL1,missense_variant,p.Ala24Ser,ENST00000256509,;CHL1,non_coding_transcript_exon_variant,,ENST00000461289,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	712	25	44	SUCCESS
GOLGA4	2803	.	GRCh37	3	37367438	37367438	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	42	103	0	ENST00000361924.2:c.4061C>A	p.Ala1354Asp	p.A1354D	ENST00000361924	NM_002078.4	1354	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS54564.1	4127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCTGTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	.	.	ENSP00000349305	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	.	.	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,missense_variant,p.Ala1376Asp,ENST00000356847,;GOLGA4,missense_variant,p.Ala1354Asp,ENST00000361924,;GOLGA4,missense_variant,p.Ala1225Asp,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,downstream_gene_variant,,ENST00000497537,;GOLGA4,upstream_gene_variant,,ENST00000498250,;	4426	103	122	SUCCESS
CTNNB1	1499	.	GRCh37	3	41274911	41274911	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	42	108	0	ENST00000349496.5:c.1161T>G	p.Asn387Lys	p.N387K	ENST00000349496	NM_001904.3	387	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS2694.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATCTTTC	SITE|p.N387K|c.1161T>G|3,CODON|p.N387K|c.1161T>A|4	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	8/15	.	.	.	.	.	.	.	.	COSM131449,COSM188063	8/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asn387Lys,ENST00000349496,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000396185,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000405570,;CTNNB1,missense_variant,p.Asn380Lys,ENST00000453024,;CTNNB1,missense_variant,p.Asn387Lys,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1441	108	123	SUCCESS
COL7A1	1294	.	GRCh37	3	48612816	48612816	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	51	0	ENST00000328333.8:c.6136G>A	p.Gly2046Ser	p.G2046S	ENST00000328333	NM_000094.3	2046	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2773.1	6136	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCTGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	73/118	.	.	.	.	.	.	.	.	.	73/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Gly2046Ser,ENST00000328333,;COL7A1,missense_variant,p.Gly2014Ser,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;MIR711,downstream_gene_variant,,ENST00000390201,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000462475,;	6244	51	37	SUCCESS
CCDC71	64925	.	GRCh37	3	49200370	49200370	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	20	115	0	ENST00000321895.6:c.1272G>T	p.Leu424=	p.L424=	ENST00000321895	NM_022903.3	424	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2790.1	1272	RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCAGCAG	NONE	.	.	hmmpanther:PTHR14484:SF0,hmmpanther:PTHR14484,Pfam_domain:PF15374	.	.	ENSP00000319006	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321895	Transcript	.	.	ENSG00000177352	25760	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD71_HUMAN	CCDC71	HGNC	.	.	UPI0000072BC0	SNV	CCDC71,synonymous_variant,p.%3D,ENST00000321895,;RP11-694I15.7,upstream_gene_variant,,ENST00000603877,;	1379	115	126	SUCCESS
CCDC66	285331	.	GRCh37	3	56597778	56597778	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1340950828	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	115	0	ENST00000394672.3:c.169A>G	p.Thr57Ala	p.T57A	ENST00000394672	NM_001141947.1	57	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46852.1	169	RADIA|MUTECT|MUSE|VARSCANS	.	AATCAACACAA	NONE	.	.	hmmpanther:PTHR22736:SF1,hmmpanther:PTHR22736	.	.	ENSP00000378167	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000394672	Transcript	.	.	ENSG00000180376	27709	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.884)	.	tolerated(0.07)	.	CCD66_HUMAN	CCDC66	HGNC	F8WCY0_HUMAN	.	UPI000020ADBC	SNV	CCDC66,missense_variant,p.Thr57Ala,ENST00000422222,;CCDC66,missense_variant,p.Thr57Ala,ENST00000538560,;CCDC66,missense_variant,p.Thr57Ala,ENST00000394672,;CCDC66,missense_variant,p.Thr23Ala,ENST00000326595,;CCDC66,missense_variant,p.Thr57Ala,ENST00000436465,;CCDC66,non_coding_transcript_exon_variant,,ENST00000469966,;CCDC66,non_coding_transcript_exon_variant,,ENST00000460838,;CCDC66,non_coding_transcript_exon_variant,,ENST00000459746,;CCDC66,non_coding_transcript_exon_variant,,ENST00000442522,;CCDC66,non_coding_transcript_exon_variant,,ENST00000472582,;CCDC66,intron_variant,,ENST00000484623,;CCDC66,missense_variant,p.Thr23Ala,ENST00000471681,;CCDC66,missense_variant,p.Thr57Ala,ENST00000341455,;CCDC66,3_prime_UTR_variant,,ENST00000422788,;CCDC66,3_prime_UTR_variant,,ENST00000434467,;CCDC66,3_prime_UTR_variant,,ENST00000439445,;CCDC66,non_coding_transcript_exon_variant,,ENST00000473322,;CCDC66,upstream_gene_variant,,ENST00000484441,;CCDC66,downstream_gene_variant,,ENST00000487739,;CCDC66,upstream_gene_variant,,ENST00000494672,;CCDC66,upstream_gene_variant,,ENST00000482673,;	239	115	102	SUCCESS
ZNF827	152485	.	GRCh37	4	146696966	146696966	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	57	0	ENST00000508784.1:c.2668G>A	p.Gly890Arg	p.G890R	ENST00000508784		890	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34072.1	2668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCATCAC	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.78)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Gly890Arg,ENST00000508784,;ZNF827,missense_variant,p.Gly890Arg,ENST00000379448,;ZNF827,missense_variant,p.Gly540Arg,ENST00000513320,;ZNF827,upstream_gene_variant,,ENST00000511659,;C4orf51,downstream_gene_variant,,ENST00000510096,;ZNF827,upstream_gene_variant,,ENST00000515386,;	2732	57	56	SUCCESS
LRBA	987	.	GRCh37	4	151770044	151770044	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	73	159	0	ENST00000357115.3:c.4265C>T	p.Ser1422Phe	p.S1422F	ENST00000357115	NM_006726.4	1422	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS3773.1	4265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGAACTT	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64	.	.	ENSP00000349629	.	26/58	.	.	.	.	.	.	.	.	COSM3600866	26/58	PASS	ENST00000357115	Transcript	1	.	ENSG00000198589	1742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	LRBA_HUMAN	LRBA	HGNC	Q7KZN3_HUMAN	.	UPI000013E35C	SNV	LRBA,missense_variant,p.Ser1422Phe,ENST00000535741,;LRBA,missense_variant,p.Ser1422Phe,ENST00000507224,;LRBA,missense_variant,p.Ser1422Phe,ENST00000357115,;LRBA,missense_variant,p.Ser1422Phe,ENST00000510413,;LRBA,missense_variant,p.Ser75Phe,ENST00000509835,;LRBA,upstream_gene_variant,,ENST00000502839,;	4509	159	183	SUCCESS
SPATA18	132671	.	GRCh37	4	52948586	52948586	+	synonymous_variant	Silent	SNP	T	T	C	rs752564973	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	73	0	ENST00000295213.4:c.1389T>C	p.Ala463=	p.A463=	ENST00000295213	NM_145263.2	463	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3489.1	1389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTCCCTT	NONE	.	.	hmmpanther:PTHR21771:SF0,hmmpanther:PTHR21771	.	.	ENSP00000295213	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000295213	Transcript	.	.	ENSG00000163071	29579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIEAP_HUMAN	SPATA18	HGNC	.	.	UPI000006FB0D	SNV	SPATA18,synonymous_variant,p.%3D,ENST00000295213,;SPATA18,synonymous_variant,p.%3D,ENST00000419395,;SPATA18,synonymous_variant,p.%3D,ENST00000505320,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;SPATA18,downstream_gene_variant,,ENST00000510549,;	1763	73	61	SUCCESS
ALB	213	.	GRCh37	4	74270860	74270860	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	45	192	0	ENST00000295897.4:c.107A>G	p.Lys36Arg	p.K36R	ENST00000295897	NM_000477.5	36	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS3555.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTAAAGATT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.22)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Lys36Arg,ENST00000509063,;ALB,missense_variant,p.Lys36Arg,ENST00000415165,;ALB,missense_variant,p.Lys36Arg,ENST00000295897,;ALB,missense_variant,p.Lys38Arg,ENST00000441319,;ALB,missense_variant,p.Lys36Arg,ENST00000401494,;ALB,intron_variant,,ENST00000503124,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;	196	192	212	SUCCESS
FRAS1	80144	.	GRCh37	4	79396668	79396668	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373757948	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	95	0	ENST00000264895.6:c.7759G>T	p.Val2587Phe	p.V2587F	ENST00000264895	NM_025074.6	2587	Gtc/Ttc	0	A:0	.	.	.	.	T	V/F	protein_coding	YES	CCDS54771.1	7759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCGTCCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	A:0.0001	ENSP00000264895	.	54/74	.	.	.	.	.	.	.	.	rs373757948	54/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Val816Phe,ENST00000512123,;FRAS1,missense_variant,p.Val2587Phe,ENST00000264895,;	8199	95	80	SUCCESS
FAM13A	10144	.	GRCh37	4	89772242	89772242	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	54	0	ENST00000264344.5:c.936A>G	p.Leu312=	p.L312=	ENST00000264344	NM_014883.3	312	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS34029.1	936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACTTAGCCG	NONE	.	.	hmmpanther:PTHR15904:SF18,hmmpanther:PTHR15904	.	.	ENSP00000264344	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000264344	Transcript	1	.	ENSG00000138640	19367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA13A_HUMAN	FAM13A	HGNC	B4DPB4_HUMAN	.	UPI0000481AF3	SNV	FAM13A,synonymous_variant,p.%3D,ENST00000264344,;FAM13A,intron_variant,,ENST00000511976,;FAM13A,non_coding_transcript_exon_variant,,ENST00000502459,;FAM13A,downstream_gene_variant,,ENST00000511145,;FAM13A,downstream_gene_variant,,ENST00000512339,;	1144	54	60	SUCCESS
UNC5C	8633	.	GRCh37	4	96141185	96141185	+	synonymous_variant	Silent	SNP	C	C	A	rs555624855	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	67	178	0	ENST00000453304.1:c.1251G>T	p.Ser417=	p.S417=	ENST00000453304	NM_003728.3	417	tcG/tcT	0	.	T:0.0008	.	T:0	.	A	S	protein_coding	YES	CCDS3643.1	1251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCGAAGA	NONE	by1000G	.	hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7	T:0	.	ENSP00000406022	T:0	8/16	.	.	.	.	.	.	.	.	rs555624855	8/16	PASS	ENST00000453304	Transcript	.	T:0.0002	ENSG00000182168	12569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	UNC5C_HUMAN	UNC5C	HGNC	Q4W5H4_HUMAN	.	UPI000004E6A5	SNV	UNC5C,synonymous_variant,p.%3D,ENST00000506749,;UNC5C,synonymous_variant,p.%3D,ENST00000513796,;UNC5C,synonymous_variant,p.%3D,ENST00000453304,;	1600	178	188	SUCCESS
TRIM36	55521	.	GRCh37	5	114506845	114506845	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	13	99	0	ENST00000282369.3:c.64-7396C>A		p.*22*	ENST00000282369	NM_018700.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4115.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGTCTGT	NONE	.	.	.	.	.	ENSP00000282369	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282369	Transcript	.	.	ENSG00000152503	16280	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI36_HUMAN	TRIM36	HGNC	E9PBG3_HUMAN	.	UPI000013DCD9	SNV	TRIM36,missense_variant,p.Asp46Glu,ENST00000379618,;TRIM36,intron_variant,,ENST00000514154,;TRIM36,intron_variant,,ENST00000282369,;TRIM36,upstream_gene_variant,,ENST00000508894,;TRIM36,upstream_gene_variant,,ENST00000513154,;TRIM36,non_coding_transcript_exon_variant,,ENST00000511701,;TRIM36,upstream_gene_variant,,ENST00000510222,;TRIM36,upstream_gene_variant,,ENST00000515104,;	.	99	119	SUCCESS
CHSY3	337876	.	GRCh37	5	129241310	129241310	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	44	0	ENST00000305031.4:c.788A>T	p.Asp263Val	p.D263V	ENST00000305031	NM_175856.4	263	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS34223.1	788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACGATGTCT	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Superfamily_domains:SSF53448	.	.	ENSP00000302629	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Asp263Val,ENST00000305031,;CTC-575N7.1,non_coding_transcript_exon_variant,,ENST00000515569,;CTC-575N7.1,intron_variant,,ENST00000503616,;CHSY3,upstream_gene_variant,,ENST00000507545,;	1146	44	55	SUCCESS
GLRA1	2741	.	GRCh37	5	151304062	151304062	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	74	0	ENST00000455880.2:c.49T>C	p.Phe17Leu	p.F17L	ENST00000455880		17	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS54942.1	49	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAATACAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF213,TIGRFAM_domain:TIGR00860,Prints_domain:PR01674	.	.	ENSP00000411593	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000455880	Transcript	1	.	ENSG00000145888	4326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.87)	.	GLRA1_HUMAN	GLRA1	HGNC	.	.	UPI0000DA6BF2	SNV	GLRA1,missense_variant,p.Phe17Leu,ENST00000455880,;GLRA1,missense_variant,p.Phe17Leu,ENST00000274576,;GLRA1,5_prime_UTR_variant,,ENST00000545569,;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,missense_variant,p.Phe17Leu,ENST00000462581,;	336	74	84	SUCCESS
FBXL7	23194	.	GRCh37	5	15936871	15936871	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745453041	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	33	1	ENST00000504595.1:c.1052G>A	p.Arg351His	p.R351H	ENST00000504595	NM_012304.4	351	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS54833.1	1052	MUTECT|SOMATICSNIPER|VARSCANS	.	GTCCCGCCTGC	BUFFER|p.R353Q|c.1058G>A|4	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	rs745453041	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.719)	.	tolerated(0.52)	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Arg339His,ENST00000329673,;FBXL7,missense_variant,p.Arg304His,ENST00000510662,;FBXL7,missense_variant,p.Arg351His,ENST00000504595,;MIR887,downstream_gene_variant,,ENST00000401258,;	1533	34	21	SUCCESS
RP11-1379J22.2	0	.	GRCh37	5	179023595	179023595	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	32	0	ENST00000500262.1:n.1277-1G>A		p.X426_splice	ENST00000500262		426		0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4445.2	1544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCTGAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22835:SF84,hmmpanther:PTHR22835	.	.	ENSP00000325594	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000319449	Transcript	.	.	ENSG00000176783	19760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.07)	.	RUFY1_HUMAN	RUFY1	HGNC	.	.	UPI0000D74C3F	SNV	RUFY1,missense_variant,p.Ala515Val,ENST00000319449,;RUFY1,missense_variant,p.Ala193Val,ENST00000502434,;RUFY1,missense_variant,p.Ala407Val,ENST00000437570,;RUFY1,missense_variant,p.Ala407Val,ENST00000393438,;RUFY1,3_prime_UTR_variant,,ENST00000377001,;RUFY1,downstream_gene_variant,,ENST00000508609,;RP11-1379J22.2,splice_acceptor_variant,,ENST00000500262,;RUFY1,3_prime_UTR_variant,,ENST00000393448,;RUFY1,non_coding_transcript_exon_variant,,ENST00000502531,;RUFY1,downstream_gene_variant,,ENST00000509797,;	1556	32	34	SUCCESS
TBC1D9B	23061	.	GRCh37	5	179306633	179306633	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	44	135	1	ENST00000356834.3:c.1411A>T	p.Lys471Ter	p.K471*	ENST00000356834	NM_198868.2	471	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS43408.1	1411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTTGGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225	.	.	ENSP00000349291	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000356834	Transcript	.	.	ENSG00000197226	29097	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC9B_HUMAN	TBC1D9B	HGNC	.	.	UPI000034ECFF	SNV	TBC1D9B,stop_gained,p.Lys25Ter,ENST00000522472,;TBC1D9B,stop_gained,p.Lys471Ter,ENST00000355235,;TBC1D9B,stop_gained,p.Lys471Ter,ENST00000356834,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,downstream_gene_variant,,ENST00000522029,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518115,;TBC1D9B,upstream_gene_variant,,ENST00000518459,;	1449	136	135	SUCCESS
CDH18	1016	.	GRCh37	5	19473467	19473467	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	40	212	1	ENST00000274170.4:c.2241T>G	p.Ala747=	p.A747=	ENST00000274170		747	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3889.1	2241	RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGCTTC	NONE	.	.	Pfam_domain:PF01049,Gene3D:4.10.900.10,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	.	.	ENSP00000425093	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,synonymous_variant,p.%3D,ENST00000382275,;CDH18,synonymous_variant,p.%3D,ENST00000274170,;CDH18,synonymous_variant,p.%3D,ENST00000507958,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	3232	213	220	SUCCESS
CDH9	1007	.	GRCh37	5	26881520	26881521	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	143	40	136	0	ENST00000231021.4:c.2094dup	p.Gln699SerfsTer13	p.Q699Sfs*13	ENST00000231021	NM_016279.3	698	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS3893.1	2094-2095	INDELOCATOR*|VARSCANI*|PINDEL	.	TATCTGAAAAA	NONE	.	.	Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	insertion	CDH9,frameshift_variant,p.Gln699SerfsTer13,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2267-2268	136	183	SUCCESS
EGFLAM	133584	.	GRCh37	5	38451432	38451432	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	46	0	ENST00000354891.3:c.2583A>G	p.Arg861=	p.R861=	ENST00000354891	NM_001205301.1	861	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS56363.1	2583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGATCAAA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000346964	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;EGFLAM,synonymous_variant,p.%3D,ENST00000397202,;EGFLAM,5_prime_UTR_variant,,ENST00000508131,;EGFLAM,5_prime_UTR_variant,,ENST00000397210,;EGFLAM,5_prime_UTR_variant,,ENST00000514476,;EGFLAM,5_prime_UTR_variant,,ENST00000506135,;EGFLAM,non_coding_transcript_exon_variant,,ENST00000508868,;	2929	46	50	SUCCESS
HCN1	348980	.	GRCh37	5	45353238	45353238	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	15	97	0	ENST00000303230.4:c.1341A>T	p.Glu447Asp	p.E447D	ENST00000303230	NM_021072.3	447	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS3952.1	1341	RADIA|MUTECT|MUSE|VARSCANS	.	ATATTTTCCTC	BUFFER|p.E447K|c.1339G>A|3	.	.	Superfamily_domains:SSF51206,Gene3D:3bpzA01,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217	.	.	ENSP00000307342	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.39)	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Glu447Asp,ENST00000303230,;	1399	97	119	SUCCESS
CDC20B	166979	.	GRCh37	5	54468477	54468477	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1373181109	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	50	0	ENST00000381375.2:c.65A>G	p.Glu22Gly	p.E22G	ENST00000381375		22	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS54852.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTTCCTTT	NONE	.	.	hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918	.	.	ENSP00000370781	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000381375	Transcript	.	.	ENSG00000164287	24222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0)	.	CD20B_HUMAN	CDC20B	HGNC	.	.	UPI0000D61625	SNV	CDC20B,missense_variant,p.Glu22Gly,ENST00000296733,;CDC20B,missense_variant,p.Glu22Gly,ENST00000334206,;CDC20B,missense_variant,p.Glu22Gly,ENST00000381375,;CDC20B,missense_variant,p.Glu22Gly,ENST00000322374,;CDC20B,intron_variant,,ENST00000331730,;MIR449A,upstream_gene_variant,,ENST00000362113,;MIR449C,upstream_gene_variant,,ENST00000516047,;MIR449B,upstream_gene_variant,,ENST00000384995,;CDC20B,missense_variant,p.Glu22Gly,ENST00000513180,;CDC20B,intron_variant,,ENST00000507931,;	211	50	50	SUCCESS
MAP3K1	4214	.	GRCh37	5	56178151	56178151	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	95	0	ENST00000399503.3:c.3124C>G	p.Leu1042Val	p.L1042V	ENST00000399503	NM_005921.1	1042	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43318.1	3124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAACTTTCC	NONE	.	.	hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361	.	.	ENSP00000382423	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000399503	Transcript	1	.	ENSG00000095015	6848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	deleterious_low_confidence(0)	.	M3K1_HUMAN	MAP3K1	HGNC	.	.	UPI000015153B	SNV	MAP3K1,missense_variant,p.Leu1042Val,ENST00000399503,;MAP3K1,upstream_gene_variant,,ENST00000469188,;	3124	95	92	SUCCESS
RNF180	285671	.	GRCh37	5	63509811	63509811	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747322087	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	28	102	0	ENST00000389100.4:c.658G>T	p.Ala220Ser	p.A220S	ENST00000389100	NM_001113561.1	220	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47219.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCGCTACA	NONE	.	.	hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF5	.	.	ENSP00000373752	.	4/8	.	.	.	.	.	.	.	.	rs747322087	4/8	PASS	ENST00000389100	Transcript	.	.	ENSG00000164197	27752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.1)	.	RN180_HUMAN	RNF180	HGNC	D6RE88_HUMAN	.	UPI0000141201	SNV	RNF180,missense_variant,p.Ala220Ser,ENST00000389100,;RNF180,missense_variant,p.Ala220Ser,ENST00000296615,;RNF180,intron_variant,,ENST00000381081,;RNF180,downstream_gene_variant,,ENST00000504296,;	730	103	112	SUCCESS
TAS2R1	50834	.	GRCh37	5	9629277	9629277	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs760913643	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	71	0	ENST00000382492.2:c.868A>T	p.Lys290Ter	p.K290*	ENST00000382492	NM_019599.2	290	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS3876.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTTTTTTG	NONE	.	.	hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF36,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000371932	.	1/1	.	.	.	.	.	.	.	.	rs760913643,COSM3857026	1/1	PASS	ENST00000382492	Transcript	.	.	ENSG00000169777	14909	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TA2R1_HUMAN	TAS2R1	HGNC	U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN	.	UPI0000038B09	SNV	TAS2R1,stop_gained,p.Lys290Ter,ENST00000382492,;TAS2R1,downstream_gene_variant,,ENST00000514078,;TAS2R1,downstream_gene_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;	1187	71	104	SUCCESS
ARMC2	84071	.	GRCh37	6	109190048	109190048	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	53	0	ENST00000392644.4:c.313C>G	p.Pro105Ala	p.P105A	ENST00000392644	NM_032131.4	105	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS5069.2	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCCACC	NONE	.	.	hmmpanther:PTHR21356	.	.	ENSP00000376417	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000392644	Transcript	.	.	ENSG00000118690	23045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.27)	.	ARMC2_HUMAN	ARMC2	HGNC	G5E993_HUMAN,B0QZC1_HUMAN	.	UPI000022CC80	SNV	ARMC2,missense_variant,p.Pro105Ala,ENST00000237512,;ARMC2,missense_variant,p.Pro105Ala,ENST00000392644,;ARMC2,5_prime_UTR_variant,,ENST00000368972,;ARMC2,upstream_gene_variant,,ENST00000414610,;	481	53	47	SUCCESS
ACAT2	39	.	GRCh37	6	160196295	160196295	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1268066667	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	65	0	ENST00000367048.4:c.584C>T	p.Ala195Val	p.A195V	ENST00000367048	NM_005891.2	195	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5268.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCTGGCC	NONE	.	.	hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000356015	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	deleterious(0.01)	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,missense_variant,p.Ala224Val,ENST00000541436,;ACAT2,missense_variant,p.Ala195Val,ENST00000367048,;TCP1,downstream_gene_variant,,ENST00000392168,;TCP1,downstream_gene_variant,,ENST00000321394,;TCP1,downstream_gene_variant,,ENST00000539756,;TCP1,downstream_gene_variant,,ENST00000544255,;TCP1,downstream_gene_variant,,ENST00000420894,;SNORA20,downstream_gene_variant,,ENST00000384662,;ACAT2,non_coding_transcript_exon_variant,,ENST00000467951,;ACAT2,upstream_gene_variant,,ENST00000472052,;TCP1,downstream_gene_variant,,ENST00000546204,;	2344	65	62	SUCCESS
UHRF1BP1	54887	.	GRCh37	6	34827055	34827055	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	49	0	ENST00000192788.5:c.2922C>G	p.Ser974=	p.S974=	ENST00000192788	NM_017754.3	974	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS43455.1	2922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCCCTACA	NONE	.	.	hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	.	.	ENSP00000192788	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000192788	Transcript	.	.	ENSG00000065060	21216	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	URFB1_HUMAN	UHRF1BP1	HGNC	.	.	UPI00001B654C	SNV	UHRF1BP1,synonymous_variant,p.%3D,ENST00000192788,;UHRF1BP1,synonymous_variant,p.%3D,ENST00000452449,;	3093	49	65	SUCCESS
SLC26A8	116369	.	GRCh37	6	35923037	35923037	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	5	119	0	ENST00000355574.2:c.2124A>T	p.Ser708=	p.S708=	ENST00000355574	NM_001193476.1	708	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4813.1	2124	MUTECT|MUSE	.	ATGAGTGATCT	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF11,Pfam_domain:PF01740	.	.	ENSP00000417638	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000490799	Transcript	.	.	ENSG00000112053	14468	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S26A8_HUMAN	SLC26A8	HGNC	.	.	UPI00000739C0	SNV	SLC26A8,synonymous_variant,p.%3D,ENST00000490799,;SLC26A8,synonymous_variant,p.%3D,ENST00000355574,;SLC26A8,synonymous_variant,p.%3D,ENST00000394602,;SLC26A8,synonymous_variant,p.%3D,ENST00000465492,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000466805,;SLC26A8,downstream_gene_variant,,ENST00000486155,;	2478	119	123	SUCCESS
EFHC1	114327	.	GRCh37	6	52334232	52334232	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	62	0	ENST00000371068.5:c.1239G>A	p.Leu413=	p.L413=	ENST00000371068	NM_018100.3	413	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4942.1	1239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGGTGAA	NONE	.	.	hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF9	.	.	ENSP00000360107	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000371068	Transcript	.	.	ENSG00000096093	16406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFHC1_HUMAN	EFHC1	HGNC	B2CKC5_HUMAN	.	UPI0000141099	SNV	EFHC1,synonymous_variant,p.%3D,ENST00000538167,;EFHC1,synonymous_variant,p.%3D,ENST00000433625,;EFHC1,synonymous_variant,p.%3D,ENST00000371068,;EFHC1,3_prime_UTR_variant,,ENST00000480623,;	1342	62	60	SUCCESS
DST	667	.	GRCh37	6	56342207	56342207	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	36	152	0	ENST00000244364.6:c.13742G>C	p.Cys4581Ser	p.C4581S	ENST00000244364	NM_015548.4	4581	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS47443.1	13742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCAGATA	NONE	.	.	Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	72/84	.	.	.	.	.	.	.	.	.	72/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Cys6669Ser,ENST00000446842,;DST,missense_variant,p.Cys4798Ser,ENST00000370788,;DST,missense_variant,p.Cys4581Ser,ENST00000244364,;DST,missense_variant,p.Cys7173Ser,ENST00000370754,;DST,missense_variant,p.Cys6884Ser,ENST00000361203,;DST,missense_variant,p.Cys6995Ser,ENST00000370769,;DST,missense_variant,p.Cys4907Ser,ENST00000421834,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000523943,;DST,non_coding_transcript_exon_variant,,ENST00000517840,;DST,upstream_gene_variant,,ENST00000492944,;	13950	152	133	SUCCESS
RAB23	51715	.	GRCh37	6	57055398	57055398	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	91	0	ENST00000317483.3:c.575G>T	p.Gly192Val	p.G192V	ENST00000317483	NM_016277.4	192	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4962.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACACCTGTA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF209,hmmpanther:PTHR24073,SMART_domains:SM00176	.	.	ENSP00000320413	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000317483	Transcript	.	.	ENSG00000112210	14263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	tolerated(0.12)	.	RAB23_HUMAN	RAB23	HGNC	.	.	UPI000013315E	SNV	RAB23,missense_variant,p.Gly192Val,ENST00000468148,;RAB23,missense_variant,p.Gly192Val,ENST00000317483,;BAG2,downstream_gene_variant,,ENST00000370693,;	1195	91	88	SUCCESS
DSP	1832	.	GRCh37	6	7585457	7585457	+	synonymous_variant	Silent	SNP	G	G	A	rs767539050	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	72	0	ENST00000379802.3:c.7962G>A	p.Gln2654=	p.Q2654=	ENST00000379802	NM_004415.2	2654	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS4501.1	7962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCAGGCCTG	NONE	byFrequency	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Pfam_domain:PF00681,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	24/24	.	.	.	.	.	.	.	.	rs767539050	24/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,synonymous_variant,p.%3D,ENST00000379802,;DSP,synonymous_variant,p.%3D,ENST00000418664,;SNRNP48,upstream_gene_variant,,ENST00000342415,;	8303	72	82	SUCCESS
FILIP1	27145	.	GRCh37	6	76024199	76024199	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1226651077	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	69	192	0	ENST00000237172.7:c.1349C>T	p.Thr450Ile	p.T450I	ENST00000237172	NM_015687.2	450	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4984.1	1349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGTGCAC	NONE	.	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.32)	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,missense_variant,p.Thr351Ile,ENST00000370020,;FILIP1,missense_variant,p.Thr450Ile,ENST00000393004,;FILIP1,missense_variant,p.Thr450Ile,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	1680	192	223	SUCCESS
RELN	5649	.	GRCh37	7	103159876	103159876	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	86	0	ENST00000428762.1:c.7756A>T	p.Thr2586Ser	p.T2586S	ENST00000428762	NM_005045.3	2586	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS47680.1	7756	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTAATCA	NONE	.	.	hmmpanther:PTHR11841,Superfamily_domains:SSF50939,Superfamily_domains:SSF50939	.	.	ENSP00000392423	.	49/65	.	.	.	.	.	.	.	.	.	49/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.76)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Thr2586Ser,ENST00000424685,;RELN,missense_variant,p.Thr2586Ser,ENST00000428762,;RELN,missense_variant,p.Thr2586Ser,ENST00000343529,;RELN,downstream_gene_variant,,ENST00000478148,;	7916	86	114	SUCCESS
FLNC	2318	.	GRCh37	7	128482659	128482659	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200215340	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	56	0	ENST00000325888.8:c.2296C>T	p.Arg766Trp	p.R766W	ENST00000325888	NM_001458.4	766	Cgg/Tgg	0	T:0	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS43644.1	2296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGCGGGTA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF81296,Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	T:0	T:0.0003	ENSP00000327145	T:0.001	15/48	.	.	.	.	.	.	.	.	rs200215340	15/48	PASS	ENST00000325888	Transcript	.	T:0.0002	ENSG00000128591	3756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	T:0	deleterious(0)	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,missense_variant,p.Arg766Trp,ENST00000325888,;FLNC,missense_variant,p.Arg766Trp,ENST00000346177,;FLNC,non_coding_transcript_exon_variant,,ENST00000388853,;	2557	56	42	SUCCESS
TNPO3	23534	.	GRCh37	7	128694954	128694954	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	22	0	ENST00000265388.5:c.-130A>G		p.*44*	ENST00000265388				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5809.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTGGCCG	NONE	.	.	.	.	.	ENSP00000265388	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000265388	Transcript	.	.	ENSG00000064419	17103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNPO3_HUMAN	TNPO3	HGNC	E9PFH4_HUMAN,B3KMX1_HUMAN	.	UPI0000072FAB	SNV	TNPO3,5_prime_UTR_variant,,ENST00000393245,;TNPO3,5_prime_UTR_variant,,ENST00000471234,;TNPO3,5_prime_UTR_variant,,ENST00000482320,;TNPO3,5_prime_UTR_variant,,ENST00000265388,;TNPO3,upstream_gene_variant,,ENST00000471166,;TPI1P2,upstream_gene_variant,,ENST00000453581,;TPI1P2,upstream_gene_variant,,ENST00000491343,;	15	22	13	SUCCESS
OR2A12	346525	.	GRCh37	7	143792372	143792372	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1443089210	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	40	125	0	ENST00000408949.2:c.172A>G	p.Met58Val	p.M58V	ENST00000408949	NM_001004135.1	58	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS43670.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCATGTAT	BUFFER|p.V60D|c.179T>A|3	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,PROSITE_profiles:PS50262	.	.	ENSP00000386174	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408949	Transcript	.	.	ENSG00000221858	15082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	deleterious(0)	.	O2A12_HUMAN	OR2A12	HGNC	A4D2G4_HUMAN	.	UPI0000061E6F	SNV	OR2A12,missense_variant,p.Met58Val,ENST00000408949,;	232	125	123	SUCCESS
PTPRN2	5799	.	GRCh37	7	157369433	157369433	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	38	0	ENST00000389418.4:c.2655C>G	p.Phe885Leu	p.F885L	ENST00000389418	NM_002847.3	885	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS5947.1	2655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGAAGTC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000374069	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000389418	Transcript	.	.	ENSG00000155093	9677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,missense_variant,p.Phe847Leu,ENST00000409483,;PTPRN2,missense_variant,p.Phe868Leu,ENST00000389416,;PTPRN2,missense_variant,p.Phe908Leu,ENST00000404321,;PTPRN2,missense_variant,p.Phe885Leu,ENST00000389418,;PTPRN2,missense_variant,p.Phe856Leu,ENST00000389413,;MIR153-2,upstream_gene_variant,,ENST00000385225,;	2665	38	38	SUCCESS
IQCE	23288	.	GRCh37	7	2646793	2646793	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	60	0	ENST00000402050.2:c.1901C>G	p.Thr634Ser	p.T634S	ENST00000402050	NM_152558.3	634	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS43542.1	1901	MUTECT|MUSE	.	TTCTACCAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22590	.	.	ENSP00000385597	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000402050	Transcript	.	.	ENSG00000106012	29171	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.87)	.	IQCE_HUMAN	IQCE	HGNC	C9JX25_HUMAN,C9JP75_HUMAN	.	UPI000020E9EF	SNV	IQCE,missense_variant,p.Thr583Ser,ENST00000404984,;IQCE,missense_variant,p.Thr634Ser,ENST00000402050,;IQCE,missense_variant,p.Thr214Ser,ENST00000423196,;IQCE,missense_variant,p.Thr569Ser,ENST00000325979,;IQCE,missense_variant,p.Thr618Ser,ENST00000438376,;IQCE,downstream_gene_variant,,ENST00000486730,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;	2085	60	61	SUCCESS
STEAP2	261729	.	GRCh37	7	89854507	89854507	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	47	172	0	ENST00000287908.3:c.111A>G	p.Gly37=	p.G37=	ENST00000287908	NM_152999.3	37	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS5615.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGAAGTGG	NONE	.	.	hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF6,Pfam_domain:PF03807,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000287908	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000287908	Transcript	.	.	ENSG00000157214	17885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STEA2_HUMAN	STEAP2	HGNC	C9JLP2_HUMAN,C9JHX5_HUMAN	.	UPI000013DEE0	SNV	STEAP2,synonymous_variant,p.%3D,ENST00000394629,;STEAP2,synonymous_variant,p.%3D,ENST00000402625,;STEAP2,synonymous_variant,p.%3D,ENST00000394632,;STEAP2,synonymous_variant,p.%3D,ENST00000394621,;STEAP2,synonymous_variant,p.%3D,ENST00000394626,;STEAP2,synonymous_variant,p.%3D,ENST00000287908,;STEAP2,synonymous_variant,p.%3D,ENST00000428074,;STEAP2,synonymous_variant,p.%3D,ENST00000394622,;STEAP2,synonymous_variant,p.%3D,ENST00000426158,;STEAP2,non_coding_transcript_exon_variant,,ENST00000482369,;	504	172	185	SUCCESS
PON1	5444	.	GRCh37	7	94953829	94953829	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs764765675	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	9	0	ENST00000222381.3:c.-42G>T		p.*14*	ENST00000222381	NM_000446.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5638.1	.	MUTECT|MUSE	.	ACCGACGGGCT	NONE	.	.	.	.	.	ENSP00000222381	.	1/9	.	.	.	.	.	.	.	.	rs764765675	1/9	PASS	ENST00000222381	Transcript	.	.	ENSG00000005421	9204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PON1_HUMAN	PON1	HGNC	.	.	UPI000013C7FD	SNV	PON1,5_prime_UTR_variant,,ENST00000222381,;PON1,intron_variant,,ENST00000542556,;PON1,upstream_gene_variant,,ENST00000433729,;	191	9	20	SUCCESS
RRM2B	50484	.	GRCh37	8	103237178	103237178	+	synonymous_variant	Silent	SNP	G	G	T	rs770060751	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	30	68	0	ENST00000251810.3:c.390C>A	p.Ile130=	p.I130=	ENST00000251810	NM_001172478.1	130	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS34932.1	390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCGATGAG	NONE	.	.	Superfamily_domains:SSF47240,Gene3D:1.10.620.20,Pfam_domain:PF00268,PROSITE_patterns:PS00368,hmmpanther:PTHR23409,hmmpanther:PTHR23409:SF19	.	.	ENSP00000251810	.	4/9	.	.	.	.	.	.	.	.	rs770060751	4/9	PASS	ENST00000251810	Transcript	1	.	ENSG00000048392	17296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIR2B_HUMAN	RRM2B	HGNC	B4E2N4_HUMAN	.	UPI000015AB89	SNV	RRM2B,synonymous_variant,p.%3D,ENST00000395912,;RRM2B,synonymous_variant,p.%3D,ENST00000522368,;RRM2B,synonymous_variant,p.%3D,ENST00000251810,;RRM2B,intron_variant,,ENST00000519317,;RRM2B,intron_variant,,ENST00000519962,;RRM2B,3_prime_UTR_variant,,ENST00000523957,;RRM2B,intron_variant,,ENST00000522394,;RRM2B,downstream_gene_variant,,ENST00000517517,;	634	68	149	SUCCESS
CTSB	1508	.	GRCh37	8	11705274	11705274	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	45	0	ENST00000345125.3:c.590del	p.Pro197HisfsTer78	p.P197Hfs*78	ENST00000345125	NM_147781.2	197	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS5986.1	590	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCATGGGGGC	NONE	.	.	hmmpanther:PTHR12411:SF285,hmmpanther:PTHR12411,Pfam_domain:PF00112,Gene3D:3.90.70.10,SMART_domains:SM00645,Superfamily_domains:SSF54001	.	.	ENSP00000345672	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000353047	Transcript	.	.	ENSG00000164733	2527	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CATB_HUMAN	CTSB	HGNC	R4GMQ5_HUMAN,Q8TAC7_HUMAN,E9PSG5_HUMAN,E9PS78_HUMAN,E9PR54_HUMAN,E9PR00_HUMAN,E9PQM1_HUMAN,E9PNL5_HUMAN,E9PLY3_HUMAN,E9PL32_HUMAN,E9PKX0_HUMAN,E9PKQ7_HUMAN,E9PJ67_HUMAN,E9PIS1_HUMAN,E9PID0_HUMAN,E9PHZ5_HUMAN	.	UPI000013E3F0	deletion	CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000453527,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000530640,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000533455,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000345125,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000353047,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000531089,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000434271,;CTSB,frameshift_variant,p.Pro197HisfsTer78,ENST00000534510,;CTSB,3_prime_UTR_variant,,ENST00000415599,;CTSB,downstream_gene_variant,,ENST00000528965,;CTSB,downstream_gene_variant,,ENST00000526645,;CTSB,downstream_gene_variant,,ENST00000530296,;CTSB,downstream_gene_variant,,ENST00000531502,;CTSB,downstream_gene_variant,,ENST00000534382,;CTSB,downstream_gene_variant,,ENST00000527243,;CTSB,downstream_gene_variant,,ENST00000505496,;CTSB,downstream_gene_variant,,ENST00000534149,;CTSB,downstream_gene_variant,,ENST00000527215,;CTSB,downstream_gene_variant,,ENST00000524500,;CTSB,downstream_gene_variant,,ENST00000534636,;CTSB,downstream_gene_variant,,ENST00000532656,;CTSB,downstream_gene_variant,,ENST00000526195,;CTSB,downstream_gene_variant,,ENST00000533572,;RP11-589N15.2,upstream_gene_variant,,ENST00000602711,;CTSB,non_coding_transcript_exon_variant,,ENST00000530290,;CTSB,non_coding_transcript_exon_variant,,ENST00000533110,;CTSB,intron_variant,,ENST00000530624,;CTSB,downstream_gene_variant,,ENST00000525076,;CTSB,3_prime_UTR_variant,,ENST00000531551,;CTSB,non_coding_transcript_exon_variant,,ENST00000532409,;CTSB,non_coding_transcript_exon_variant,,ENST00000420692,;CTSB,downstream_gene_variant,,ENST00000525315,;CTSB,downstream_gene_variant,,ENST00000532370,;CTSB,upstream_gene_variant,,ENST00000526481,;	844	45	49	SUCCESS
FAM84B	0	.	GRCh37	8	127568717	127568717	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	47	0	ENST00000304916.3:c.918G>C	p.Glu306Asp	p.E306D	ENST00000304916	NM_174911.4	306	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS6358.1	918	RADIA|MUTECT|MUSE	.	ACTGCCTCTCC	NONE	.	.	.	.	.	ENSP00000302578	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304916	Transcript	.	.	ENSG00000168672	24166	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.217)	.	tolerated_low_confidence(0.1)	.	FA84B_HUMAN	FAM84B	HGNC	.	.	UPI00000710F2	SNV	FAM84B,missense_variant,p.Glu306Asp,ENST00000304916,;RP11-89K10.1,upstream_gene_variant,,ENST00000520512,;RP11-89K10.1,upstream_gene_variant,,ENST00000519880,;RP11-89K10.1,upstream_gene_variant,,ENST00000517773,;RP11-103H7.5,upstream_gene_variant,,ENST00000524320,;FAM84B,upstream_gene_variant,,ENST00000517458,;	1374	47	65	SUCCESS
ADCY8	114	.	GRCh37	8	132051783	132051783	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	48	0	ENST00000286355.5:c.797T>G	p.Leu266Arg	p.L266R	ENST00000286355	NM_001115.2	266	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS6363.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAGCCCG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.454)	.	tolerated(0.12)	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,missense_variant,p.Leu266Arg,ENST00000286355,;ADCY8,missense_variant,p.Leu266Arg,ENST00000377928,;	2890	48	92	SUCCESS
CSMD1	64478	.	GRCh37	8	3063095	3063095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	30	0	ENST00000537824.1:c.4915C>A	p.Pro1639Thr	p.P1639T	ENST00000537824	NM_033225.5	1639	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55189.1	4915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGGTGATA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	31/70	.	.	.	.	.	.	.	.	.	31/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Pro1640Thr,ENST00000400186,;CSMD1,missense_variant,p.Pro1639Thr,ENST00000542608,;CSMD1,missense_variant,p.Pro1640Thr,ENST00000602723,;CSMD1,missense_variant,p.Pro1120Thr,ENST00000335551,;CSMD1,missense_variant,p.Pro1639Thr,ENST00000537824,;CSMD1,missense_variant,p.Pro1640Thr,ENST00000520002,;CSMD1,missense_variant,p.Pro1639Thr,ENST00000539096,;CSMD1,missense_variant,p.Pro1640Thr,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4915	30	24	SUCCESS
CNGB3	54714	.	GRCh37	8	87645119	87645119	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	73	165	0	ENST00000320005.5:c.1181A>C	p.Tyr394Ser	p.Y394S	ENST00000320005	NM_019098.4	394	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS6244.1	1181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGATACCTG	NONE	.	.	hmmpanther:PTHR10217:SF385,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000316605	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0.03)	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,missense_variant,p.Tyr394Ser,ENST00000320005,;	1229	165	234	SUCCESS
STXBP1	6812	.	GRCh37	9	130428513	130428513	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	51	0	ENST00000373299.1:c.732C>A	p.Leu244=	p.L244=	ENST00000373299	NM_001032221.3	244	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6874.1	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTCCATGA	NONE	.	.	hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.40.50.1910,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000362399	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000373302	Transcript	.	.	ENSG00000136854	11444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB1_HUMAN	STXBP1	HGNC	.	.	UPI0000006C0B	SNV	STXBP1,synonymous_variant,p.%3D,ENST00000373302,;STXBP1,synonymous_variant,p.%3D,ENST00000373299,;STXBP1,downstream_gene_variant,,ENST00000496504,;STXBP1,upstream_gene_variant,,ENST00000481942,;STXBP1,downstream_gene_variant,,ENST00000495829,;	871	51	49	SUCCESS
SPTAN1	6709	.	GRCh37	9	131377967	131377967	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757734927	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	52	0	ENST00000372731.4:c.5190C>A	p.Phe1730Leu	p.F1730L	ENST00000372731	NM_003127.3	1730	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS48036.1	5205	MUTECT|MUSE	.	GCCTTCGACAC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	41/57	.	.	.	.	.	.	.	.	rs757734927	41/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	deleterious(0.01)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Phe1735Leu,ENST00000372739,;SPTAN1,missense_variant,p.Phe1735Leu,ENST00000358161,;SPTAN1,missense_variant,p.Phe1730Leu,ENST00000372731,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000476825,;	5315	52	65	SUCCESS
ADAMTS13	11093	.	GRCh37	9	136302887	136302887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	65	0	ENST00000371929.3:c.1454A>G	p.His485Arg	p.H485R	ENST00000371929	NM_139025.4	485	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS6970.1	1454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACACATGT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161	.	.	ENSP00000360997	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000371929	Transcript	.	.	ENSG00000160323	1366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	deleterious(0.05)	.	ATS13_HUMAN	ADAMTS13	HGNC	Q6QNA4_HUMAN,B3KWF7_HUMAN	.	UPI0000000DAD	SNV	ADAMTS13,missense_variant,p.His485Arg,ENST00000355699,;ADAMTS13,missense_variant,p.His454Arg,ENST00000356589,;ADAMTS13,missense_variant,p.His485Arg,ENST00000371929,;ADAMTS13,missense_variant,p.His157Arg,ENST00000536611,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,intron_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000495234,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;	1898	65	54	SUCCESS
CA9	768	.	GRCh37	9	35674288	35674288	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	65	0	ENST00000378357.4:c.332A>C	p.Glu111Ala	p.E111A	ENST00000378357	NM_001216.2	111	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS6585.1	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGAGGATC	NONE	.	.	hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18	.	.	ENSP00000367608	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000378357	Transcript	.	.	ENSG00000107159	1383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.706)	.	deleterious_low_confidence(0)	.	CAH9_HUMAN	CA9	HGNC	.	.	UPI000013E02C	SNV	CA9,missense_variant,p.Glu111Ala,ENST00000378357,;ARHGEF39,upstream_gene_variant,,ENST00000378395,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000493245,;ARHGEF39,5_prime_UTR_variant,,ENST00000490638,;	436	65	64	SUCCESS
NLGN4X	57502	.	GRCh37	X	5821576	5821576	+	synonymous_variant	Silent	SNP	G	G	A	rs764507720	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	59	115	0	ENST00000275857.6:c.1143C>T	p.Asp381=	p.D381=	ENST00000275857	NM_020742.2	381	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS14126.1	1143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCGTCCAC	NONE	byFrequency	.	Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559	.	.	ENSP00000370485	.	5/6	.	.	.	.	.	.	.	.	rs764507720	5/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,synonymous_variant,p.%3D,ENST00000381092,;NLGN4X,synonymous_variant,p.%3D,ENST00000381095,;NLGN4X,synonymous_variant,p.%3D,ENST00000381093,;NLGN4X,synonymous_variant,p.%3D,ENST00000538097,;NLGN4X,synonymous_variant,p.%3D,ENST00000275857,;NLGN4X,upstream_gene_variant,,ENST00000477079,;	1771	115	104	SUCCESS
TEX11	56159	.	GRCh37	X	69942515	69942515	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	40	51	0	ENST00000344304.3:c.1002C>T	p.Pro334=	p.P334=	ENST00000344304		334	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35323.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAAGGGCAT	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631	.	.	ENSP00000379226	.	14/31	.	.	.	.	.	.	.	.	.	14/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,synonymous_variant,p.%3D,ENST00000374320,;TEX11,synonymous_variant,p.%3D,ENST00000374333,;TEX11,synonymous_variant,p.%3D,ENST00000395889,;TEX11,synonymous_variant,p.%3D,ENST00000344304,;	1158	51	59	SUCCESS
DDX50	79009	.	GRCh37	10	70694063	70694063	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755105994	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	46	0	ENST00000373585.3:c.1348C>T	p.Arg450Cys	p.R450C	ENST00000373585	NM_024045.1	450	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7283.1	1348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCGTGGT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000362687	.	9/15	.	.	.	.	.	.	.	.	rs755105994	9/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Arg450Cys,ENST00000373585,;DDX50,intron_variant,,ENST00000466265,;DDX50,intron_variant,,ENST00000460470,;	1455	46	60	SUCCESS
DUPD1	0	.	GRCh37	10	76818256	76818256	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	47	0	ENST00000338487.5:c.17T>A	p.Val6Glu	p.V6E	ENST00000338487	NM_001003892.1	6	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS31223.1	17	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCACTTCT	NONE	.	.	.	.	.	ENSP00000340609	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000338487	Transcript	.	.	ENSG00000188716	23481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.08)	.	DUPD1_HUMAN	DUPD1	HGNC	.	.	UPI000003E897	SNV	DUPD1,missense_variant,p.Val6Glu,ENST00000338487,;	17	47	68	SUCCESS
MMP13	4322	.	GRCh37	11	102826137	102826137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs558630699	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	76	126	1	ENST00000260302.3:c.206G>A	p.Arg69Gln	p.R69Q	ENST00000260302	NM_002427.3	69	cGa/cAa	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS8324.1	206	RADIA|SOMATICSNIPER|VARSCANS	.	TTTCTCGGAGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10201:SF130,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090	T:0	.	ENSP00000260302	T:0	2/10	.	.	.	.	.	.	.	.	rs558630699	2/10	PASS	ENST00000260302	Transcript	.	T:0.0004	ENSG00000137745	7159	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.036)	T:0.001	tolerated(0.52)	.	MMP13_HUMAN	MMP13	HGNC	Q6LBE5_HUMAN	.	UPI00000422BC	SNV	MMP13,missense_variant,p.Arg69Gln,ENST00000260302,;MMP13,missense_variant,p.Arg69Gln,ENST00000340273,;	235	127	197	SUCCESS
CXCR5	643	.	GRCh37	11	118764607	118764607	+	synonymous_variant	Silent	SNP	G	G	A	rs1259220217	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	39	164	0	ENST00000292174.4:c.354G>A	p.Gly118=	p.G118=	ENST00000292174	NM_001716.4	118	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8402.1	354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGACCTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227:SF33,hmmpanther:PTHR24227,PROSITE_profiles:PS50262	.	.	ENSP00000292174	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000292174	Transcript	.	.	ENSG00000160683	1060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCR5_HUMAN	CXCR5	HGNC	A0N0R2_HUMAN	.	UPI000004358C	SNV	CXCR5,synonymous_variant,p.%3D,ENST00000292174,;BCL9L,3_prime_UTR_variant,,ENST00000334801,;BCL9L,downstream_gene_variant,,ENST00000526143,;	530	164	154	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128932247	128932247	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	39	0	ENST00000310343.9:c.849A>G	p.Gly283=	p.G283=	ENST00000310343	NM_001142685.1	283	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS44769.1	849	MUSE|VARSCANS	.	ATGTCTCCCAC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000310561	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,synonymous_variant,p.%3D,ENST00000524655,;ARHGAP32,synonymous_variant,p.%3D,ENST00000310343,;ARHGAP32,downstream_gene_variant,,ENST00000525234,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;	849	39	41	SUCCESS
OR51G1	79324	.	GRCh37	11	4944635	4944635	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772754451	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	100	0	ENST00000321961.2:c.935T>C	p.Ile312Thr	p.I312T	ENST00000321961	NM_001005237.1	312	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31366.1	935	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTATAAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Superfamily_domains:SSF81321	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	rs772754451	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.4)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Ile312Thr,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	1003	100	103	SUCCESS
OR4S2	219431	.	GRCh37	11	55418935	55418935	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1295933490	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	105	217	0	ENST00000312422.2:c.556G>T	p.Ala186Ser	p.A186S	ENST00000312422	NM_001004059.2	186	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31505.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGCCTGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000310337	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312422	Transcript	.	.	ENSG00000174982	15183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	deleterious(0.05)	.	OR4S2_HUMAN	OR4S2	HGNC	.	.	UPI00001D77D2	SNV	OR4S2,missense_variant,p.Ala186Ser,ENST00000312422,;	556	217	283	SUCCESS
MPEG1	219972	.	GRCh37	11	58979671	58979671	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	42	0	ENST00000361050.3:c.668C>T	p.Ala223Val	p.A223V	ENST00000361050	NM_001039396.1	223	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41650.1	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGCCCTG	NONE	.	.	SMART_domains:SM00457,Pfam_domain:PF01823,hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3,PROSITE_profiles:PS51412	.	.	ENSP00000354335	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361050	Transcript	.	.	ENSG00000197629	29619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	deleterious(0.02)	.	MPEG1_HUMAN	MPEG1	HGNC	.	.	UPI0000049D9F	SNV	MPEG1,missense_variant,p.Ala223Val,ENST00000361050,;DTX4,downstream_gene_variant,,ENST00000227451,;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	754	42	48	SUCCESS
SLC22A11	55867	.	GRCh37	11	64326710	64326710	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs571324325	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	59	0	ENST00000301891.4:c.497G>A	p.Arg166Gln	p.R166Q	ENST00000301891	NM_018484.2	166	cGg/cAg	0	.	A:0.0008	.	A:0	.	A	R/Q	protein_coding	YES	CCDS8074.1	497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCGGTGAG	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF39,hmmpanther:PTHR24064,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	A:0	.	ENSP00000301891	A:0	2/10	.	.	.	.	.	.	.	.	rs571324325	2/10	PASS	ENST00000301891	Transcript	.	A:0.0002	ENSG00000168065	18120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	A:0	deleterious(0.05)	.	S22AB_HUMAN	SLC22A11	HGNC	.	.	UPI000003ED3F	SNV	SLC22A11,missense_variant,p.Arg166Gln,ENST00000377581,;SLC22A11,missense_variant,p.Arg166Gln,ENST00000377585,;SLC22A11,missense_variant,p.Arg166Gln,ENST00000301891,;SLC22A11,intron_variant,,ENST00000490834,;SLC22A11,splice_region_variant,,ENST00000478051,;SLC22A11,upstream_gene_variant,,ENST00000460745,;	871	59	82	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73076917	73076917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	67	0	ENST00000263674.3:c.5920C>A	p.Arg1974Ser	p.R1974S	ENST00000263674	NM_014786.3	1974	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS8221.1	5920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCCGCTTC	NONE	.	.	hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Superfamily_domains:SSF50978	.	.	ENSP00000263674	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Arg1974Ser,ENST00000263674,;ARHGEF17,non_coding_transcript_exon_variant,,ENST00000543530,;ARHGEF17,downstream_gene_variant,,ENST00000536481,;	6270	67	78	SUCCESS
KDM4D	55693	.	GRCh37	11	94732090	94732104	+	inframe_deletion	In_Frame_Del	DEL	CTGGGCCCCTGTGCC	CTGGGCCCCTGTGCC	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	CTGGGCCCCTGTGCC	CTGGGCCCCTGTGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	72	32	119	0	ENST00000335080.5:c.1556_1570del	p.Trp519_Pro523del	p.W519_P523del	ENST00000335080	NM_018039.2	518	agCTGGGCCCCTGTGCCc/agc	0	.	.	.	.	.	-	SWAPVP/S	protein_coding	YES	CCDS8302.1	1554-1568	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCAGCTGGGCCCCTGTGCCCTAAG	NONE	.	.	.	.	.	ENSP00000334181	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000335080	Transcript	.	.	ENSG00000186280	25498	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KDM4D_HUMAN	KDM4D	HGNC	.	.	UPI00001A82EC	deletion	KDM4D,inframe_deletion,p.Trp519_Pro523del,ENST00000536741,;KDM4D,inframe_deletion,p.Trp519_Pro523del,ENST00000335080,;	2386-2400	119	104	SUCCESS
TAS2R7	50837	.	GRCh37	12	10954420	10954420	+	synonymous_variant	Silent	SNP	G	G	A	rs201086265	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	61	107	0	ENST00000240687.2:c.750C>T	p.Ser250=	p.S250=	ENST00000240687	NM_023919.2	250	tcC/tcT	0	A:0	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS8631.1	750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGGACAA	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11394:SF58,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	A:0	A:0.0001	ENSP00000240687	A:0.001	1/1	.	.	.	.	.	.	.	.	rs201086265	1/1	PASS	ENST00000240687	Transcript	.	A:0.0002	ENSG00000121377	14913	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TA2R7_HUMAN	TAS2R7	HGNC	Q50KV7_HUMAN,Q50KV5_HUMAN	.	UPI0000038B0F	SNV	TAS2R7,synonymous_variant,p.%3D,ENST00000240687,;TAS2R8,downstream_gene_variant,,ENST00000240615,;	807	107	159	SUCCESS
CIT	11113	.	GRCh37	12	120172998	120172998	+	synonymous_variant	Silent	SNP	C	C	T	rs907326946	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	254	132	340	0	ENST00000261833.7:c.2997G>A	p.Thr999=	p.T999=	ENST00000261833	NM_007174.2	999	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS55891.1	3123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCCGTGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26	.	.	ENSP00000376306	.	25/48	.	.	.	.	.	.	.	.	.	25/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Arg25Gln,ENST00000546026,;CIT,synonymous_variant,p.%3D,ENST00000392520,;CIT,synonymous_variant,p.%3D,ENST00000261833,;CIT,synonymous_variant,p.%3D,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,downstream_gene_variant,,ENST00000541841,;	3179	340	386	SUCCESS
UBC	7316	.	GRCh37	12	125396988	125396988	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	42	152	0	ENST00000339647.5:c.1330G>C	p.Glu444Gln	p.E444Q	ENST00000339647	NM_021009.5	444	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS9260.1	1330	RADIA|MUSE|VARSCANS	.	GGACTCTTTCT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF94,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000441543	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000536769	Transcript	.	.	ENSG00000150991	12468	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.34)	.	deleterious(0.01)	.	UBC_HUMAN	UBC	HGNC	Q9UFQ0_HUMAN,Q96C32_HUMAN,Q5PY61_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,J3QS39_HUMAN,J3QKN0_HUMAN,F5H747_HUMAN,F5H6Q2_HUMAN,F5H388_HUMAN,F5H2Z3_HUMAN,F5H265_HUMAN,F5H041_HUMAN,F5GZ39_HUMAN,F5GYU3_HUMAN,F5GXK7_HUMAN,A8CGI2_HUMAN	.	UPI000013DC28	SNV	UBC,missense_variant,p.Glu368Gln,ENST00000546120,;UBC,missense_variant,p.Glu444Gln,ENST00000536769,;UBC,missense_variant,p.Glu444Gln,ENST00000339647,;UBC,intron_variant,,ENST00000538617,;UBC,downstream_gene_variant,,ENST00000546271,;UBC,downstream_gene_variant,,ENST00000542416,;UBC,downstream_gene_variant,,ENST00000540700,;UBC,downstream_gene_variant,,ENST00000541645,;UBC,downstream_gene_variant,,ENST00000535131,;UBC,downstream_gene_variant,,ENST00000541272,;UBC,downstream_gene_variant,,ENST00000535859,;UBC,downstream_gene_variant,,ENST00000540351,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,downstream_gene_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,;	2907	152	169	SUCCESS
KIAA1551	0	.	GRCh37	12	32136525	32136525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	41	125	0	ENST00000312561.4:c.2636C>T	p.Ser879Leu	p.S879L	ENST00000312561	NM_018169.3	879	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS8725.2	2636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCAAGGA	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	tolerated(0.12)	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,missense_variant,p.Ser879Leu,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	3050	125	151	SUCCESS
SLC6A13	6540	.	GRCh37	12	333670	333670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	54	140	0	ENST00000343164.4:c.1070T>C	p.Leu357Pro	p.L357P	ENST00000343164	NM_016615.4	357	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8502.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAGGCCA	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF111,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000339260	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000343164	Transcript	.	.	ENSG00000010379	11046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S6A13_HUMAN	SLC6A13	HGNC	.	.	UPI0000046060	SNV	SLC6A13,missense_variant,p.Leu265Pro,ENST00000445055,;SLC6A13,missense_variant,p.Leu357Pro,ENST00000343164,;SLC6A13,intron_variant,,ENST00000542379,;SLC6A13,upstream_gene_variant,,ENST00000539668,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000543722,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000542947,;	1123	140	145	SUCCESS
CSRNP2	81566	.	GRCh37	12	51457625	51457625	+	synonymous_variant	Silent	SNP	C	C	A	rs765804181	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	63	143	0	ENST00000228515.1:c.1536G>T	p.Thr512=	p.T512=	ENST00000228515	NM_030809.2	512	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8807.1	1536	RADIA|MUTECT|MUSE	.	TTGTCCGTGCG	NONE	.	.	hmmpanther:PTHR13580:SF6,hmmpanther:PTHR13580	.	.	ENSP00000228515	.	5/5	.	.	.	.	.	.	.	.	rs765804181	5/5	PASS	ENST00000228515	Transcript	.	.	ENSG00000110925	16006	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSRN2_HUMAN	CSRNP2	HGNC	F8W1G8_HUMAN,F8VZY2_HUMAN,F8VVN1_HUMAN,F8VTU0_HUMAN	.	UPI0000073111	SNV	CSRNP2,synonymous_variant,p.%3D,ENST00000228515,;LETMD1,downstream_gene_variant,,ENST00000547008,;LETMD1,downstream_gene_variant,,ENST00000553043,;LETMD1,downstream_gene_variant,,ENST00000552739,;CSRNP2,downstream_gene_variant,,ENST00000548206,;LETMD1,downstream_gene_variant,,ENST00000418425,;LETMD1,downstream_gene_variant,,ENST00000551931,;LETMD1,downstream_gene_variant,,ENST00000550929,;LETMD1,downstream_gene_variant,,ENST00000262055,;LETMD1,downstream_gene_variant,,ENST00000547256,;LETMD1,downstream_gene_variant,,ENST00000380123,;LETMD1,downstream_gene_variant,,ENST00000547660,;LETMD1,downstream_gene_variant,,ENST00000548516,;LETMD1,downstream_gene_variant,,ENST00000549395,;LETMD1,downstream_gene_variant,,ENST00000546814,;LETMD1,downstream_gene_variant,,ENST00000552645,;LETMD1,downstream_gene_variant,,ENST00000550100,;LETMD1,downstream_gene_variant,,ENST00000550274,;LETMD1,downstream_gene_variant,,ENST00000547555,;LETMD1,downstream_gene_variant,,ENST00000380135,;LETMD1,downstream_gene_variant,,ENST00000547318,;LETMD1,downstream_gene_variant,,ENST00000547877,;LETMD1,downstream_gene_variant,,ENST00000549686,;	1834	143	139	SUCCESS
CSRNP2	81566	.	GRCh37	12	51457641	51457641	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	66	154	0	ENST00000228515.1:c.1520G>T	p.Ser507Ile	p.S507I	ENST00000228515	NM_030809.2	507	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS8807.1	1520	RADIA|MUTECT|MUSE	.	GGAGGCTTGAG	NONE	.	.	hmmpanther:PTHR13580:SF6,hmmpanther:PTHR13580	.	.	ENSP00000228515	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228515	Transcript	.	.	ENSG00000110925	16006	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.09)	.	CSRN2_HUMAN	CSRNP2	HGNC	F8W1G8_HUMAN,F8VZY2_HUMAN,F8VVN1_HUMAN,F8VTU0_HUMAN	.	UPI0000073111	SNV	CSRNP2,missense_variant,p.Ser507Ile,ENST00000228515,;LETMD1,downstream_gene_variant,,ENST00000547008,;LETMD1,downstream_gene_variant,,ENST00000553043,;LETMD1,downstream_gene_variant,,ENST00000552739,;CSRNP2,downstream_gene_variant,,ENST00000548206,;LETMD1,downstream_gene_variant,,ENST00000418425,;LETMD1,downstream_gene_variant,,ENST00000551931,;LETMD1,downstream_gene_variant,,ENST00000550929,;LETMD1,downstream_gene_variant,,ENST00000262055,;LETMD1,downstream_gene_variant,,ENST00000547256,;LETMD1,downstream_gene_variant,,ENST00000380123,;LETMD1,downstream_gene_variant,,ENST00000547660,;LETMD1,downstream_gene_variant,,ENST00000548516,;LETMD1,downstream_gene_variant,,ENST00000549395,;LETMD1,downstream_gene_variant,,ENST00000546814,;LETMD1,downstream_gene_variant,,ENST00000552645,;LETMD1,downstream_gene_variant,,ENST00000550100,;LETMD1,downstream_gene_variant,,ENST00000550274,;LETMD1,downstream_gene_variant,,ENST00000547555,;LETMD1,downstream_gene_variant,,ENST00000380135,;LETMD1,downstream_gene_variant,,ENST00000547318,;LETMD1,downstream_gene_variant,,ENST00000547877,;LETMD1,downstream_gene_variant,,ENST00000549686,;	1818	154	155	SUCCESS
GALNT6	11226	.	GRCh37	12	51748219	51748219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	19	136	0	ENST00000356317.3:c.1813C>A	p.Pro605Thr	p.P605T	ENST00000356317	NM_007210.3	605	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8813.1	1813	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCTTTT	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000444171	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000543196	Transcript	.	.	ENSG00000139629	4128	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.627)	.	deleterious(0.02)	.	GALT6_HUMAN	GALNT6	HGNC	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN	.	UPI000013D726	SNV	GALNT6,missense_variant,p.Pro605Thr,ENST00000543196,;GALNT6,missense_variant,p.Pro605Thr,ENST00000356317,;GALNT6,3_prime_UTR_variant,,ENST00000603641,;GALNT6,non_coding_transcript_exon_variant,,ENST00000603680,;	2019	136	179	SUCCESS
HOXC4	3221	.	GRCh37	12	54447662	54447662	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	50	0	ENST00000303406.4:c.-6-39G>T		p.*2*	ENST00000303406	NM_014620.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8873.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGAAAAA	NONE	.	.	.	.	.	ENSP00000399808	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000430889	Transcript	.	.	ENSG00000273266	5126	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC4_HUMAN	HOXC4	Uniprot_gn	.	.	UPI000013E89C	SNV	HOXC4,5_prime_UTR_variant,,ENST00000430889,;HOXC4,5_prime_UTR_variant,,ENST00000609810,;HOXC4,intron_variant,,ENST00000303406,;RP11-834C11.3,upstream_gene_variant,,ENST00000515617,;HOXC4,downstream_gene_variant,,ENST00000507650,;	2	50	57	SUCCESS
TBK1	29110	.	GRCh37	12	64889483	64889483	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	46	53	0	ENST00000331710.5:c.1648G>C	p.Glu550Gln	p.E550Q	ENST00000331710	NM_013254.3	550	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS8968.1	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTAGAAAAA	NONE	.	.	hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF14	.	.	ENSP00000329967	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000331710	Transcript	.	.	ENSG00000183735	11584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(1)	.	TBK1_HUMAN	TBK1	HGNC	F5H206_HUMAN,F5H1A3_HUMAN,F5GZI4_HUMAN,B4E164_HUMAN	.	UPI0000035B47	SNV	TBK1,missense_variant,p.Glu550Gln,ENST00000331710,;TBK1,non_coding_transcript_exon_variant,,ENST00000541805,;TBK1,upstream_gene_variant,,ENST00000545392,;	1987	53	100	SUCCESS
CAND1	55832	.	GRCh37	12	67701207	67701207	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751453121	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	50	0	ENST00000545606.1:c.2960C>T	p.Thr987Met	p.T987M	ENST00000545606	NM_018448.3	987	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS8977.1	2960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTACGGCTG	NONE	byFrequency	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	11/15	.	.	.	.	.	.	.	.	rs751453121	11/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.03)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Thr987Met,ENST00000545606,;CAND1,missense_variant,p.Thr527Met,ENST00000544619,;CAND1,missense_variant,p.Arg441Trp,ENST00000540319,;	3397	50	72	SUCCESS
CD163L1	283316	.	GRCh37	12	7510070	7510070	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	47	0	ENST00000313599.3:c.4292A>T	p.Asn1431Ile	p.N1431I	ENST00000313599		1431	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS8577.1	4292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTTGGGG	NONE	.	.	.	.	.	ENSP00000315945	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000313599	Transcript	.	.	ENSG00000177675	30375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.21)	.	C163B_HUMAN	CD163L1	HGNC	F5H7R7_HUMAN	.	UPI000013F5AD	SNV	CD163L1,missense_variant,p.Asn87Ile,ENST00000539726,;CD163L1,missense_variant,p.Asn1441Ile,ENST00000416109,;CD163L1,missense_variant,p.Asn1431Ile,ENST00000313599,;CD163L1,missense_variant,p.Asn1399Ile,ENST00000396630,;CD163L1,3_prime_UTR_variant,,ENST00000546182,;CD163L1,non_coding_transcript_exon_variant,,ENST00000543841,;CD163L1,non_coding_transcript_exon_variant,,ENST00000542055,;	4350	47	58	SUCCESS
NAV3	89795	.	GRCh37	12	78513703	78513703	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	68	143	0	ENST00000397909.2:c.3727A>G	p.Ile1243Val	p.I1243V	ENST00000397909	NM_001024383.1	1243	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41815.1	3727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATTGCC	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.99)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Ile1243Val,ENST00000536525,;NAV3,missense_variant,p.Ile1243Val,ENST00000397909,;NAV3,missense_variant,p.Ile1243Val,ENST00000266692,;NAV3,missense_variant,p.Ile1243Val,ENST00000228327,;NAV3,missense_variant,p.Ile315Val,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	3900	143	180	SUCCESS
CEP290	80184	.	GRCh37	12	88486591	88486591	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	59	161	0	ENST00000552810.1:c.3328G>T	p.Asp1110Tyr	p.D1110Y	ENST00000552810	NM_025114.3	1110	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS55858.1	3328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCCAAAT	BUFFER|p.I1107I|c.3321C>A|3	.	.	hmmpanther:PTHR18879	.	.	ENSP00000448012	.	29/54	.	.	.	.	.	.	.	.	.	29/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Asp1110Tyr,ENST00000552810,;CEP290,missense_variant,p.Asp170Tyr,ENST00000397838,;CEP290,missense_variant,p.Asp1112Tyr,ENST00000309041,;CEP290,missense_variant,p.Asp170Tyr,ENST00000547691,;CEP290,downstream_gene_variant,,ENST00000604024,;	3672	161	160	SUCCESS
SLC10A2	6555	.	GRCh37	13	103701761	103701761	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	63	132	0	ENST00000245312.3:c.797A>G	p.Asn266Ser	p.N266S	ENST00000245312	NM_000452.2	266	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9506.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTTCTGC	NONE	.	.	TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19	.	.	ENSP00000245312	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000245312	Transcript	.	.	ENSG00000125255	10906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.03)	.	NTCP2_HUMAN	SLC10A2	HGNC	.	.	UPI000013CB9B	SNV	SLC10A2,missense_variant,p.Asn266Ser,ENST00000245312,;	1394	132	166	SUCCESS
ZMYM2	7750	.	GRCh37	13	20567643	20567643	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760872094	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	87	0	ENST00000382871.2:c.431C>T	p.Pro144Leu	p.P144L	ENST00000382871		144	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45016.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCTGAGA	NONE	.	.	.	.	.	ENSP00000372322	.	3/25	.	.	.	.	.	.	.	.	rs760872094	3/25	PASS	ENST00000382869	Transcript	.	.	ENSG00000121741	12989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.04)	.	ZMYM2_HUMAN	ZMYM2	HGNC	.	.	UPI000013C318	SNV	ZMYM2,missense_variant,p.Pro144Leu,ENST00000382881,;ZMYM2,missense_variant,p.Pro144Leu,ENST00000382869,;ZMYM2,missense_variant,p.Pro144Leu,ENST00000382871,;ZMYM2,missense_variant,p.Pro144Leu,ENST00000382874,;	682	87	102	SUCCESS
BRCA2	675	.	GRCh37	13	32937516	32937516	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs80359064	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	126	0	ENST00000380152.3:c.8177A>G	p.Tyr2726Cys	p.Y2726C	ENST00000380152		2726	tAt/tGt	0	G:0	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9344.1	8177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	GTGGTATGCTG	NONE	byCluster	.	hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,Gene3D:2.40.50.140,Pfam_domain:PF09103,PIRSF_domain:PIRSF002397,Superfamily_domains:SSF50249	.	G:0.0001	ENSP00000439902	.	18/28	.	.	.	.	.	.	.	.	rs80359064	18/28	PASS	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.Tyr2726Cys,ENST00000544455,;BRCA2,missense_variant,p.Tyr2726Cys,ENST00000380152,;	8404	126	152	SUCCESS
BRCA2	675	.	GRCh37	13	32953916	32953924	+	inframe_deletion	In_Frame_Del	DEL	GATTTATAT	GATTTATAT	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	GATTTATAT	GATTTATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	135	29	167	0	ENST00000380152.3:c.8983_8991del	p.Asp2995_Tyr2997del	p.D2995_Y2997del	ENST00000380152		2995	GATTTATAT/-	0	.	.	.	.	.	-	DLY/-	protein_coding	YES	CCDS9344.1	8983-8991	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATCAGATTTATATTCTCT	NONE	.	.	hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,Gene3D:2.40.50.140,PIRSF_domain:PIRSF002397,Superfamily_domains:SSF50249	.	.	ENSP00000439902	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	deletion	BRCA2,inframe_deletion,p.Asp2995_Tyr2997del,ENST00000544455,;BRCA2,inframe_deletion,p.Asp2995_Tyr2997del,ENST00000380152,;BRCA2,downstream_gene_variant,,ENST00000528762,;BRCA2,upstream_gene_variant,,ENST00000470094,;IFIT1P1,upstream_gene_variant,,ENST00000400497,;	9210-9218	167	164	SUCCESS
LACC1	144811	.	GRCh37	13	44455558	44455558	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150202700	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	68	0	ENST00000325686.6:c.437C>A	p.Ser146Tyr	p.S146Y	ENST00000325686	NM_153218.2	146	tCc/tAc	0	A:0	.	.	.	.	A	S/Y	protein_coding	YES	CCDS9391.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCCATTG	NONE	byCluster	.	hmmpanther:PTHR30616	.	A:0.0002	ENSP00000391747	.	2/7	.	.	.	.	.	.	.	.	rs150202700	2/7	PASS	ENST00000441843	Transcript	.	.	ENSG00000179630	26789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	tolerated(0.14)	.	LACC1_HUMAN	LACC1	HGNC	A2A3Z5_HUMAN	.	UPI00000746BB	SNV	LACC1,missense_variant,p.Ser146Tyr,ENST00000441843,;LACC1,missense_variant,p.Ser146Tyr,ENST00000325686,;LACC1,missense_variant,p.Ser146Tyr,ENST00000425906,;CCDC122,upstream_gene_variant,,ENST00000444614,;CCDC122,upstream_gene_variant,,ENST00000476570,;	922	68	72	SUCCESS
YY1	7528	.	GRCh37	14	100742844	100742844	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	75	0	ENST00000262238.4:c.921C>G	p.Phe307Leu	p.F307L	ENST00000262238	NM_003403.4	307	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS9957.1	921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCAGGGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR14003:SF10,hmmpanther:PTHR14003,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13894,SMART_domains:SM00355,PIRSF_domain:PIRSF037113,Superfamily_domains:SSF57667	.	.	ENSP00000262238	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000262238	Transcript	1	.	ENSG00000100811	12856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	tolerated(0.14)	.	TYY1_HUMAN	YY1	HGNC	G3V3M8_HUMAN	.	UPI00001378FC	SNV	YY1,stop_gained,p.Ser118Ter,ENST00000553625,;YY1,missense_variant,p.Phe307Leu,ENST00000262238,;YY1,intron_variant,,ENST00000554804,;AL157871.2,downstream_gene_variant,,ENST00000553954,;YY1,non_coding_transcript_exon_variant,,ENST00000554579,;	1181	75	96	SUCCESS
RP11-468E2.9	0	.	GRCh37	14	24517998	24517998	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs759806033	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	487	303	617	0	ENST00000606840.1:n.653T>C		p.*218*	ENST00000606840				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32054.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTATCAAGA	NONE	byFrequency	3211	.	.	.	ENSP00000340467	.	.	.	.	.	.	.	.	.	.	rs759806033	.	PASS	ENST00000342740	Transcript	.	.	ENSG00000186648	20272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16B_HUMAN	LRRC16B	HGNC	.	.	UPI0000DBEF11	SNV	LRRC16B,upstream_gene_variant,,ENST00000342740,;LRRC16B,upstream_gene_variant,,ENST00000334420,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000558293,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000559270,;RP11-468E2.9,intron_variant,,ENST00000558622,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000606840,;RP11-468E2.9,non_coding_transcript_exon_variant,,ENST00000397065,;	.	617	790	SUCCESS
ACOT6	641372	.	GRCh37	14	74083755	74083766	+	5_prime_UTR_variant	5'UTR	DEL	CAGGGCCAGCCT	CAGGGCCAGCCT	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	CAGGGCCAGCCT	CAGGGCCAGCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	25	0	ENST00000381139.1:c.-123_-112del		p.*41*	ENST00000381139	NM_001037162.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32118.1	.	INDELOCATOR|VARSCANI	.	TGAATACAGGGCCAGCCTCCTGG	NONE	.	.	.	.	.	ENSP00000370531	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000381139	Transcript	.	.	ENSG00000205669	33159	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACOT6_HUMAN	ACOT6	HGNC	G3V3W6_HUMAN	.	UPI00005BB7DB	deletion	ACOT6,5_prime_UTR_variant,,ENST00000381139,;ACOT6,5_prime_UTR_variant,,ENST00000554229,;RP3-414A15.10,non_coding_transcript_exon_variant,,ENST00000555011,;RP3-414A15.10,downstream_gene_variant,,ENST00000555500,;	208-219	25	17	SUCCESS
C14orf1	0	.	GRCh37	14	76117958	76117958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1463985777	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	71	0	ENST00000256319.6:c.363G>A	p.Met121Ile	p.M121I	ENST00000256319	NM_007176.3	121	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS9845.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCATACC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15451,hmmpanther:PTHR15451:SF19	.	.	ENSP00000256319	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000256319	Transcript	.	.	ENSG00000133935	1187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ERG28_HUMAN	C14orf1	HGNC	Q86TW5_HUMAN,Q6FII3_HUMAN	.	UPI0000127BDF	SNV	C14orf1,missense_variant,p.Met121Ile,ENST00000256319,;FLVCR2,intron_variant,,ENST00000553587,;FLVCR2,downstream_gene_variant,,ENST00000539311,;FLVCR2,downstream_gene_variant,,ENST00000555027,;FLVCR2,downstream_gene_variant,,ENST00000238667,;FLVCR2,downstream_gene_variant,,ENST00000556856,;FLVCR2,intron_variant,,ENST00000555385,;FLVCR2,intron_variant,,ENST00000556241,;TTLL5,intron_variant,,ENST00000554132,;TTLL5,intron_variant,,ENST00000556265,;FLVCR2,downstream_gene_variant,,ENST00000554496,;	809	71	96	SUCCESS
SLC24A4	123041	.	GRCh37	14	92953018	92953024	+	frameshift_variant	Frame_Shift_Del	DEL	TATCGGA	TATCGGA	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	TATCGGA	TATCGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	152	59	204	0	ENST00000532405.1:c.1433_1439del	p.Ile478ThrfsTer28	p.I478Tfs*28	ENST00000532405		477	atTATCGGA/at	0	.	.	.	.	.	-	IIG/X	protein_coding	YES	CCDS9903.2	1431-1437	INDELOCATOR*|VARSCANI*|PINDEL	.	GACTATTATCGGATACAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF21,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000431840	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000532405	Transcript	1	.	ENSG00000140090	10978	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCKX4_HUMAN	SLC24A4	HGNC	G3V505_HUMAN,B4DHR5_HUMAN	.	UPI000044C5DE	deletion	SLC24A4,frameshift_variant,p.Ile459ThrfsTer28,ENST00000531433,;SLC24A4,frameshift_variant,p.Ile344ThrfsTer28,ENST00000525557,;SLC24A4,frameshift_variant,p.Ile414ThrfsTer28,ENST00000393265,;SLC24A4,frameshift_variant,p.Ile442ThrfsTer28,ENST00000351924,;SLC24A4,frameshift_variant,p.Ile461ThrfsTer28,ENST00000298877,;SLC24A4,frameshift_variant,p.Ile478ThrfsTer28,ENST00000532405,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000526482,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000554925,;	1657-1663	204	211	SUCCESS
HERC2P3	283755	.	GRCh37	15	20663201	20663201	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	22	103	0	ENST00000428453.1:n.1101T>A		p.*367*	ENST00000428453				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGACACAA	NONE	.	.	.	.	.	.	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,downstream_gene_variant,,ENST00000412154,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,downstream_gene_variant,,ENST00000414804,;HERC2P3,upstream_gene_variant,,ENST00000426501,;HERC2P3,upstream_gene_variant,,ENST00000440441,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429926,;HERC2P3,upstream_gene_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1101	103	138	SUCCESS
C15orf52	0	.	GRCh37	15	40628995	40628995	+	synonymous_variant	Silent	SNP	T	T	C	rs143912259	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	56	0	ENST00000559313.1:c.894A>G	p.Lys298=	p.K298=	ENST00000559313	NM_207380.2	298	aaA/aaG	0	C:0	.	.	.	.	C	K	protein_coding	YES	CCDS10055.2	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGTTTCTG	NONE	byCluster	.	hmmpanther:PTHR15635,hmmpanther:PTHR15635:SF10,Pfam_domain:PF15266	.	C:0.0001	ENSP00000453969	.	8/11	.	.	.	.	.	.	.	.	rs143912259	8/11	PASS	ENST00000559313	Transcript	.	.	ENSG00000188549	33488	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO052_HUMAN	C15orf52	HGNC	H0YM82_HUMAN,H0YK65_HUMAN	.	UPI00001C0AEA	SNV	C15orf52,synonymous_variant,p.%3D,ENST00000397536,;C15orf52,synonymous_variant,p.%3D,ENST00000559313,;C15orf52,5_prime_UTR_variant,,ENST00000558858,;C15orf52,downstream_gene_variant,,ENST00000560922,;C15orf52,downstream_gene_variant,,ENST00000557973,;C15orf52,non_coding_transcript_exon_variant,,ENST00000382688,;C15orf52,non_coding_transcript_exon_variant,,ENST00000558912,;	910	56	66	SUCCESS
LOXL1	4016	.	GRCh37	15	74219024	74219024	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	19	0	ENST00000261921.7:c.-101C>A		p.*34*	ENST00000261921	NM_005576.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGCAAGGA	NONE	.	.	.	.	.	ENSP00000261921	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000261921	Transcript	1	.	ENSG00000129038	6665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOXL1_HUMAN	LOXL1	HGNC	.	.	UPI000013D224	SNV	LOXL1,5_prime_UTR_variant,,ENST00000261921,;LOXL1-AS1,intron_variant,,ENST00000564963,;LOXL1-AS1,intron_variant,,ENST00000565756,;LOXL1-AS1,intron_variant,,ENST00000562965,;LOXL1-AS1,intron_variant,,ENST00000564194,;LOXL1-AS1,intron_variant,,ENST00000565416,;LOXL1-AS1,intron_variant,,ENST00000568087,;LOXL1-AS1,intron_variant,,ENST00000566675,;LOXL1-AS1,intron_variant,,ENST00000567257,;LOXL1-AS1,intron_variant,,ENST00000562739,;LOXL1-AS1,upstream_gene_variant,,ENST00000567644,;LOXL1-AS1,upstream_gene_variant,,ENST00000562130,;LOXL1-AS1,upstream_gene_variant,,ENST00000568229,;LOXL1,5_prime_UTR_variant,,ENST00000566011,;	226	19	27	SUCCESS
SCAMP5	192683	.	GRCh37	15	75310253	75310253	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	108	0	ENST00000361900.6:c.336C>T	p.Phe112=	p.F112=	ENST00000361900	NM_001178111.1	112	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS45306.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCATGGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF04144,hmmpanther:PTHR10687,hmmpanther:PTHR10687:SF5	.	.	ENSP00000355387	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000361900	Transcript	.	.	ENSG00000198794	30386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCAM5_HUMAN	SCAMP5	HGNC	H3BTD1_HUMAN,H3BT30_HUMAN,H3BS22_HUMAN,H3BP89_HUMAN,H3BNW6_HUMAN,H3BNH7_HUMAN,H3BNB3_HUMAN	.	UPI00000700E5	SNV	SCAMP5,synonymous_variant,p.%3D,ENST00000564779,;SCAMP5,synonymous_variant,p.%3D,ENST00000567920,;SCAMP5,synonymous_variant,p.%3D,ENST00000562327,;SCAMP5,synonymous_variant,p.%3D,ENST00000545456,;SCAMP5,synonymous_variant,p.%3D,ENST00000568081,;SCAMP5,synonymous_variant,p.%3D,ENST00000562212,;SCAMP5,synonymous_variant,p.%3D,ENST00000361900,;SCAMP5,synonymous_variant,p.%3D,ENST00000425597,;SCAMP5,downstream_gene_variant,,ENST00000565989,;SCAMP5,downstream_gene_variant,,ENST00000568018,;SCAMP5,downstream_gene_variant,,ENST00000566872,;SCAMP5,non_coding_transcript_exon_variant,,ENST00000565923,;SCAMP5,non_coding_transcript_exon_variant,,ENST00000564141,;SCAMP5,3_prime_UTR_variant,,ENST00000567529,;SCAMP5,3_prime_UTR_variant,,ENST00000564491,;SCAMP5,3_prime_UTR_variant,,ENST00000562765,;SCAMP5,3_prime_UTR_variant,,ENST00000568423,;SCAMP5,downstream_gene_variant,,ENST00000567535,;	543	108	121	SUCCESS
ATF7IP2	80063	.	GRCh37	16	10527419	10527419	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	42	151	0	ENST00000356427.2:c.873G>A	p.Glu291=	p.E291=	ENST00000356427		291	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS10540.1	873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGAGGAAAA	NONE	.	.	hmmpanther:PTHR23210:SF6,hmmpanther:PTHR23210	.	.	ENSP00000379808	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000396560	Transcript	.	.	ENSG00000166669	20397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCAF2_HUMAN	ATF7IP2	HGNC	H3BUP1_HUMAN,H3BR07_HUMAN,H3BPC9_HUMAN,H3BNE6_HUMAN,B4DKH3_HUMAN	.	UPI00001FEDD8	SNV	ATF7IP2,synonymous_variant,p.%3D,ENST00000396559,;ATF7IP2,synonymous_variant,p.%3D,ENST00000396560,;ATF7IP2,synonymous_variant,p.%3D,ENST00000324570,;ATF7IP2,synonymous_variant,p.%3D,ENST00000356427,;ATF7IP2,intron_variant,,ENST00000543967,;ATF7IP2,downstream_gene_variant,,ENST00000562527,;ATF7IP2,downstream_gene_variant,,ENST00000569939,;ATF7IP2,downstream_gene_variant,,ENST00000562102,;ATF7IP2,downstream_gene_variant,,ENST00000569900,;ATF7IP2,downstream_gene_variant,,ENST00000561932,;ATF7IP2,synonymous_variant,p.%3D,ENST00000535850,;ATF7IP2,synonymous_variant,p.%3D,ENST00000568027,;	1100	151	169	SUCCESS
MVP	9961	.	GRCh37	16	29841810	29841810	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	77	0	ENST00000357402.5:c.-35-26C>G		p.*12*	ENST00000357402	NM_017458.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10656.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCTGTG	NONE	.	.	.	.	.	ENSP00000349977	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357402	Transcript	.	.	ENSG00000013364	7531	.	.	MODIFIER	1/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MVP_HUMAN	MVP	HGNC	H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN	.	UPI000012FA9C	SNV	MVP,5_prime_UTR_variant,,ENST00000566066,;MVP,5_prime_UTR_variant,,ENST00000395353,;MVP,5_prime_UTR_variant,,ENST00000563558,;MVP,5_prime_UTR_variant,,ENST00000563915,;MVP,intron_variant,,ENST00000357402,;MVP,intron_variant,,ENST00000566252,;MVP,intron_variant,,ENST00000452209,;MVP,intron_variant,,ENST00000565164,;MVP,intron_variant,,ENST00000570234,;MVP,non_coding_transcript_exon_variant,,ENST00000566554,;MVP,non_coding_transcript_exon_variant,,ENST00000565830,;MVP,upstream_gene_variant,,ENST00000570061,;PAGR1,3_prime_UTR_variant,,ENST00000562285,;MVP,non_coding_transcript_exon_variant,,ENST00000563096,;MVP,intron_variant,,ENST00000569887,;MVP,intron_variant,,ENST00000566859,;MVP,intron_variant,,ENST00000562463,;MVP,upstream_gene_variant,,ENST00000569612,;MVP,upstream_gene_variant,,ENST00000563123,;	.	77	112	SUCCESS
ZNF629	23361	.	GRCh37	16	30793663	30793663	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	52	0	ENST00000262525.4:c.1986C>T	p.Tyr662=	p.Y662=	ENST00000262525	NM_001080417.1	662	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS45463.1	1986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGTAGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF286,hmmpanther:PTHR24377,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000262525	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000262525	Transcript	.	.	ENSG00000102870	29008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN629_HUMAN	ZNF629	HGNC	.	.	UPI00001C1FA5	SNV	ZNF629,synonymous_variant,p.%3D,ENST00000262525,;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	2194	52	43	SUCCESS
C16orf78	123970	.	GRCh37	16	49412388	49412388	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	39	0	ENST00000299191.3:c.278G>A	p.Gly93Glu	p.G93E	ENST00000299191	NM_144602.2	93	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS10738.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGGAAAGA	NONE	.	.	Pfam_domain:PF15472	.	.	ENSP00000299191	.	3/5	.	.	.	.	.	.	.	.	COSM1709136	3/5	PASS	ENST00000299191	Transcript	.	.	ENSG00000166152	28479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.029)	.	tolerated(0.29)	1	CP078_HUMAN	C16orf78	HGNC	.	.	UPI0000071013	SNV	C16orf78,missense_variant,p.Gly93Glu,ENST00000299191,;	395	39	37	SUCCESS
CHD9	80205	.	GRCh37	16	53269094	53269094	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	48	0	ENST00000398510.3:c.2512-3A>G		p.X838_splice	ENST00000398510		838		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45485.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAAAGGAC	NONE	.	.	.	.	.	ENSP00000457466	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	LOW	10/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,splice_region_variant,,ENST00000566029,;CHD9,splice_region_variant,,ENST00000565803,;CHD9,splice_region_variant,,ENST00000447540,;CHD9,splice_region_variant,,ENST00000564845,;CHD9,splice_region_variant,,ENST00000398510,;CHD9,splice_region_variant,,ENST00000564255,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,non_coding_transcript_exon_variant,,ENST00000569225,;	.	48	55	SUCCESS
HYDIN	54768	.	GRCh37	16	70884465	70884465	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	28	104	0	ENST00000393567.2:c.12537A>C	p.Thr4179=	p.T4179=	ENST00000393567	NM_001270974.1	4179	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS59269.1	12537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAATGTCAC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	74/86	.	.	.	.	.	.	.	.	.	74/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,synonymous_variant,p.%3D,ENST00000393567,;RNU6ATAC25P,upstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	12688	104	114	SUCCESS
HYDIN	54768	.	GRCh37	16	70884466	70884466	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	102	1	ENST00000393567.2:c.12536C>A	p.Thr4179Lys	p.T4179K	ENST00000393567	NM_001270974.1	4179	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS59269.1	12536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATGTCACA	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	74/86	.	.	.	.	.	.	.	.	.	74/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Thr4179Lys,ENST00000393567,;RNU6ATAC25P,upstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	12687	103	112	SUCCESS
HYDIN	54768	.	GRCh37	16	70884467	70884467	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	30	101	0	ENST00000393567.2:c.12535A>G	p.Thr4179Ala	p.T4179A	ENST00000393567	NM_001270974.1	4179	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59269.1	12535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGTCACAG	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	74/86	.	.	.	.	.	.	.	.	.	74/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Thr4179Ala,ENST00000393567,;RNU6ATAC25P,upstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	12686	101	115	SUCCESS
C16orf46	123775	.	GRCh37	16	81095083	81095083	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	63	172	0	ENST00000299578.5:c.871C>T	p.Leu291=	p.L291=	ENST00000299578	NM_152337.2	291	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10932.1	871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGCAGGG	NONE	.	.	Pfam_domain:PF15032	.	.	ENSP00000299578	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299578	Transcript	.	.	ENSG00000166455	26525	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP046_HUMAN	C16orf46	HGNC	H3BQQ0_HUMAN,B4DI50_HUMAN	.	UPI000013E5BE	SNV	C16orf46,synonymous_variant,p.%3D,ENST00000378611,;C16orf46,synonymous_variant,p.%3D,ENST00000299578,;C16orf46,downstream_gene_variant,,ENST00000565253,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,downstream_gene_variant,,ENST00000444657,;	1107	172	189	SUCCESS
NF1	4763	.	GRCh37	17	29576138	29576138	+	splice_donor_variant	Splice_Site	SNP	G	G	C	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	80	0	ENST00000358273.4:c.4110+1G>C		p.X1370_splice	ENST00000358273	NM_001042492.2	1370		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGTATGC	NONE	.	.	.	.	.	ENSP00000351015	.	.	.	.	.	.	.	.	.	.	CS971829,CS000898,COSM220125,COSM330994,COSM330993	.	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	HIGH	30/57	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	.	.	0,0,1,1,1	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,splice_donor_variant,,ENST00000358273,;NF1,splice_donor_variant,,ENST00000456735,;NF1,splice_donor_variant,,ENST00000356175,;NF1,splice_donor_variant,,ENST00000495910,;NF1,splice_donor_variant,,ENST00000466819,;NF1,splice_donor_variant,,ENST00000579081,;NF1,splice_donor_variant,,ENST00000493220,;NF1,splice_donor_variant,,ENST00000479614,;	.	80	87	SUCCESS
CCL8	6355	.	GRCh37	17	32646502	32646502	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs200834045	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	53	0	ENST00000394620.1:c.-19C>A		p.*7*	ENST00000394620	NM_005623.2			0	.	G:0	.	G:0	.	A	.	protein_coding	YES	CCDS11280.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCACACC	NONE	byFrequency|byCluster|by1000G	.	.	G:0.001	.	ENSP00000378118	G:0	1/3	.	.	.	.	.	.	.	.	rs200834045	1/3	PASS	ENST00000394620	Transcript	.	G:0.0022	ENSG00000108700	10635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0102	.	.	CCL8_HUMAN	CCL8	HGNC	H0UIC7_HUMAN	.	UPI000002FE45	SNV	CCL8,5_prime_UTR_variant,,ENST00000394620,;	448	53	68	SUCCESS
KRT17	3872	.	GRCh37	17	39778675	39778675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	330	196	397	0	ENST00000311208.8:c.604G>T	p.Ala202Ser	p.A202S	ENST00000311208	NM_000422.2	202	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS11402.1	604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGCTCTGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF91,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF46579,Prints_domain:PR01248	.	.	ENSP00000308452	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000311208	Transcript	.	.	ENSG00000128422	6427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.3)	.	K1C17_HUMAN	KRT17	HGNC	K7ESE1_HUMAN,B4E2P9_HUMAN	.	UPI0000148FD6	SNV	KRT17,missense_variant,p.Ala167Ser,ENST00000577817,;JUP,missense_variant,p.Ala361Ser,ENST00000540235,;KRT17,missense_variant,p.Ala202Ser,ENST00000311208,;KRT17,5_prime_UTR_variant,,ENST00000590038,;KRT17,5_prime_UTR_variant,,ENST00000463128,;KRT42P,downstream_gene_variant,,ENST00000398469,;KRT42P,downstream_gene_variant,,ENST00000438131,;KRT17,non_coding_transcript_exon_variant,,ENST00000493253,;KRT17,downstream_gene_variant,,ENST00000491673,;	672	397	527	SUCCESS
PELP1	27043	.	GRCh37	17	4585844	4585844	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	69	0	ENST00000574876.1:c.595A>G	p.Met199Val	p.M199V	ENST00000574876		199	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	.	595	MUTECT|MUSE	.	CTTCATTCCTT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429,Pfam_domain:PF08167,Superfamily_domains:SSF48371	.	.	ENSP00000461625	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000574876	Transcript	.	.	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.504)	.	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Met52Val,ENST00000570387,;PELP1,missense_variant,p.Met199Val,ENST00000269230,;PELP1,missense_variant,p.Met52Val,ENST00000436683,;PELP1,missense_variant,p.Met199Val,ENST00000574876,;PELP1,missense_variant,p.Met199Val,ENST00000301396,;PELP1,missense_variant,p.Met176Val,ENST00000570571,;PELP1,missense_variant,p.Met249Val,ENST00000572293,;PELP1,intron_variant,,ENST00000575101,;AC091153.4,intron_variant,,ENST00000441700,;PELP1,downstream_gene_variant,,ENST00000570823,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,downstream_gene_variant,,ENST00000571170,;	613	69	53	SUCCESS
RP11-112H10.4	0	.	GRCh37	17	56621120	56621120	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	343	10	198	0	ENST00000580769.1:n.452A>G		p.*151*	ENST00000580769		143		0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32691.1	428	MUTECT|MUSE	.	GGCCGACCTCG	NONE	.	.	Pfam_domain:PF15548	.	.	ENSP00000354874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000321691	Transcript	.	.	ENSG00000181013	26844	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.728)	.	tolerated(0.4)	.	CQ047_HUMAN	C17orf47	HGNC	.	.	UPI0000140BFA	SNV	C17orf47,missense_variant,p.Val143Ala,ENST00000321691,;SEPT4,upstream_gene_variant,,ENST00000457347,;SEPT4,upstream_gene_variant,,ENST00000412945,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580769,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,intron_variant,,ENST00000578022,;SEPT4,upstream_gene_variant,,ENST00000581921,;	610	198	353	SUCCESS
PLEKHM1P	0	.	GRCh37	17	62796826	62796826	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	79	0	ENST00000578036.1:n.1328G>C		p.*443*	ENST00000578036				0	.	.	.	.	.	G	.	processed_transcript	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACCAGCT	NONE	.	.	.	.	.	.	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000578036	Transcript	.	.	ENSG00000214176	35411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLEKHM1P	HGNC	.	.	.	SNV	PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000578036,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582986,;PLEKHM1P,downstream_gene_variant,,ENST00000580919,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582201,;PLEKHM1P,downstream_gene_variant,,ENST00000440036,;	1328	79	116	SUCCESS
HELZ	9931	.	GRCh37	17	65105654	65105654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	335	120	276	0	ENST00000358691.5:c.4067C>T	p.Pro1356Leu	p.P1356L	ENST00000358691	NM_014877.3	1356	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42374.1	4067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTAGGGATT	NONE	.	.	hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887	.	.	ENSP00000351524	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated_low_confidence(0.07)	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Pro1357Leu,ENST00000580168,;HELZ,missense_variant,p.Pro1356Leu,ENST00000358691,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	4234	276	455	SUCCESS
DNAH2	146754	.	GRCh37	17	7721766	7721766	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	76	0	ENST00000389173.2:c.10524T>C	p.Ala3508=	p.A3508=	ENST00000389173	NM_020877.2	3508	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS32551.1	10524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTGTTAA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12781	.	.	ENSP00000458355	.	69/86	.	.	.	.	.	.	.	.	.	69/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,synonymous_variant,p.%3D,ENST00000575105,;	11984	76	50	SUCCESS
CHMP6	79643	.	GRCh37	17	78972946	78972946	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	84	0	ENST00000325167.5:c.599C>G	p.Ala200Gly	p.A200G	ENST00000325167	NM_024591.4	200	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS11774.1	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCTTCGT	NONE	.	.	.	.	.	ENSP00000317468	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000325167	Transcript	.	.	ENSG00000176108	25675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CHMP6_HUMAN	CHMP6	HGNC	I3L3E4_HUMAN	.	UPI000003E7D8	SNV	CHMP6,missense_variant,p.Ala200Gly,ENST00000325167,;CHMP6,intron_variant,,ENST00000571457,;CHMP6,downstream_gene_variant,,ENST00000572778,;AC127496.1,upstream_gene_variant,,ENST00000321930,;CHMP6,downstream_gene_variant,,ENST00000572525,;CTD-2561B21.7,downstream_gene_variant,,ENST00000577061,;CTD-2561B21.7,downstream_gene_variant,,ENST00000576215,;	677	84	110	SUCCESS
ALPK2	115701	.	GRCh37	18	56247584	56247584	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	113	250	0	ENST00000361673.3:c.424G>T	p.Glu142Ter	p.E142*	ENST00000361673	NM_052947.3	142	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11966.2	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCATCAA	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	.	.	ENSP00000354991	.	4/13	.	.	.	.	.	.	.	.	COSM3796469	4/13	PASS	ENST00000361673	Transcript	.	.	ENSG00000198796	20565	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ALPK2_HUMAN	ALPK2	HGNC	.	.	UPI000022A768	SNV	ALPK2,stop_gained,p.Glu142Ter,ENST00000361673,;ALPK2,non_coding_transcript_exon_variant,,ENST00000590642,;ALPK2,upstream_gene_variant,,ENST00000587399,;ALPK2,upstream_gene_variant,,ENST00000587842,;ALPK2,upstream_gene_variant,,ENST00000590662,;	638	250	282	SUCCESS
ZSWIM4	65249	.	GRCh37	19	13910558	13910558	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770349251	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	47	111	1	ENST00000254323.2:c.178C>T	p.Pro60Ser	p.P60S	ENST00000254323	NM_023072.2	60	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32924.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCCTGAG	NONE	.	.	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4	.	.	ENSP00000254323	.	2/13	.	.	.	.	.	.	.	.	rs770349251	2/13	PASS	ENST00000254323	Transcript	.	.	ENSG00000132003	25704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	ZSWM4_HUMAN	ZSWIM4	HGNC	Q9HA55_HUMAN	.	UPI00001C2005	SNV	ZSWIM4,missense_variant,p.Pro60Ser,ENST00000254323,;CTD-3252C9.2,upstream_gene_variant,,ENST00000591242,;	367	112	128	SUCCESS
ZNF208	7757	.	GRCh37	19	22157531	22157531	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs267605388	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	71	0	ENST00000397126.4:c.305G>C	p.Arg102Thr	p.R102T	ENST00000397126	NM_007153.3	102	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS54240.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	CATACCTTCTC	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	rs267605388	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.244)	.	tolerated(0.36)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Arg102Thr,ENST00000599916,;ZNF208,missense_variant,p.Arg102Thr,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;	454	72	92	SUCCESS
ZNF681	148213	.	GRCh37	19	23938330	23938330	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	29	1	ENST00000402377.3:c.27G>T	p.Val9=	p.V9=	ENST00000402377	NM_138286.2	9	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12414.2	27	SOMATICSNIPER|VARSCANS	.	ATGGCCACATC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000384000	.	2/4	.	.	.	.	.	.	.	.	COSM3531839	2/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,synonymous_variant,p.%3D,ENST00000402377,;ZNF681,intron_variant,,ENST00000395385,;ZNF681,intron_variant,,ENST00000528059,;ZNF681,intron_variant,,ENST00000531570,;	169	30	33	SUCCESS
CD22	933	.	GRCh37	19	35832037	35832037	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	53	112	0	ENST00000085219.5:c.1503C>G	p.Val501=	p.V501=	ENST00000085219	NM_001771.3	501	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS12457.1	1503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCCAGTG	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000085219	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000085219	Transcript	.	.	ENSG00000012124	1643	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD22_HUMAN	CD22	HGNC	Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN	.	UPI000012733D	SNV	CD22,synonymous_variant,p.%3D,ENST00000544992,;CD22,synonymous_variant,p.%3D,ENST00000270311,;CD22,synonymous_variant,p.%3D,ENST00000085219,;CD22,synonymous_variant,p.%3D,ENST00000341773,;CD22,synonymous_variant,p.%3D,ENST00000594250,;CD22,synonymous_variant,p.%3D,ENST00000536635,;CD22,synonymous_variant,p.%3D,ENST00000419549,;CD22,downstream_gene_variant,,ENST00000600424,;CD22,downstream_gene_variant,,ENST00000599811,;CD22,downstream_gene_variant,,ENST00000593867,;MIR5196,upstream_gene_variant,,ENST00000578146,;CD22,non_coding_transcript_exon_variant,,ENST00000598815,;CD22,downstream_gene_variant,,ENST00000597433,;CD22,downstream_gene_variant,,ENST00000601329,;CD22,downstream_gene_variant,,ENST00000598138,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000601414,;CD22,downstream_gene_variant,,ENST00000600905,;CD22,synonymous_variant,p.%3D,ENST00000594125,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,non_coding_transcript_exon_variant,,ENST00000600655,;CD22,non_coding_transcript_exon_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000599717,;CD22,downstream_gene_variant,,ENST00000594349,;CD22,downstream_gene_variant,,ENST00000596492,;CD22,upstream_gene_variant,,ENST00000593704,;	1569	112	113	SUCCESS
NPHS1	4868	.	GRCh37	19	36342181	36342181	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771864711	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	69	0	ENST00000378910.5:c.380T>A	p.Val127Glu	p.V127E	ENST00000378910	NM_004646.3	127	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS32996.1	380	MUTECT|MUSE	.	GGATCACTCTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF31,hmmpanther:PTHR11640,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000368190	.	3/29	.	.	.	.	.	.	.	.	rs771864711	3/29	PASS	ENST00000378910	Transcript	1	.	ENSG00000161270	7908	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	NPHN_HUMAN	NPHS1	HGNC	.	.	UPI000004EF61	SNV	NPHS1,missense_variant,p.Val127Glu,ENST00000378910,;NPHS1,missense_variant,p.Val127Glu,ENST00000353632,;KIRREL2,upstream_gene_variant,,ENST00000586102,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000592132,;	380	69	93	SUCCESS
HNRNPUL1	11100	.	GRCh37	19	41800283	41800283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	71	175	0	ENST00000392006.3:c.1307C>A	p.Thr436Lys	p.T436K	ENST00000392006	NM_007040.3	436	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS12576.1	1307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCACATGGG	NONE	.	.	hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Gene3D:3.40.50.300,Pfam_domain:PF13671,Superfamily_domains:SSF52540	.	.	ENSP00000375863	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000392006	Transcript	.	.	ENSG00000105323	17011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	HNRL1_HUMAN	HNRNPUL1	HGNC	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN	.	UPI000013D3F4	SNV	HNRNPUL1,missense_variant,p.Thr436Lys,ENST00000392006,;HNRNPUL1,missense_variant,p.Thr322Lys,ENST00000378215,;HNRNPUL1,missense_variant,p.Thr336Lys,ENST00000595018,;HNRNPUL1,missense_variant,p.Thr347Lys,ENST00000263367,;HNRNPUL1,missense_variant,p.Thr436Lys,ENST00000602130,;HNRNPUL1,missense_variant,p.Thr285Lys,ENST00000599614,;HNRNPUL1,missense_variant,p.Thr336Lys,ENST00000352456,;HNRNPUL1,missense_variant,p.Thr336Lys,ENST00000599719,;HNRNPUL1,missense_variant,p.Thr336Lys,ENST00000593587,;HNRNPUL1,upstream_gene_variant,,ENST00000600493,;HNRNPUL1,3_prime_UTR_variant,,ENST00000600596,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;	1480	175	209	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48565265	48565265	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	41	0	ENST00000599921.1:c.1247A>G	p.Asp416Gly	p.D416G	ENST00000599921		416	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS59403.1	1277	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATCTCCG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF28,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000472546	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.331)	.	deleterious(0.01)	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,missense_variant,p.Asp416Gly,ENST00000599921,;PLA2G4C,missense_variant,p.Asp416Gly,ENST00000413144,;PLA2G4C,missense_variant,p.Asp426Gly,ENST00000599111,;PLA2G4C,missense_variant,p.Asp416Gly,ENST00000354276,;PLA2G4C,missense_variant,p.Asp168Gly,ENST00000599300,;PLA2G4C,missense_variant,p.Asp105Gly,ENST00000595161,;PLA2G4C,downstream_gene_variant,,ENST00000601946,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000601548,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000596552,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000601950,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599239,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596353,;	1579	41	51	SUCCESS
ZNF83	55769	.	GRCh37	19	53138403	53138403	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	11	0	ENST00000301096.3:c.-318T>C		p.*106*	ENST00000301096	NM_018300.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12854.1	.	RADIA|MUTECT|MUSE	.	AAGTCAATCCT	NONE	.	.	.	.	.	ENSP00000472619	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000597597	Transcript	.	.	ENSG00000167766	13158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF83_HUMAN	ZNF83	HGNC	H9XFB5_HUMAN	.	UPI000013E6CF	SNV	ZNF83,5_prime_UTR_variant,,ENST00000598536,;ZNF83,5_prime_UTR_variant,,ENST00000601257,;ZNF83,5_prime_UTR_variant,,ENST00000301096,;ZNF83,5_prime_UTR_variant,,ENST00000597161,;ZNF83,5_prime_UTR_variant,,ENST00000597597,;ZNF83,5_prime_UTR_variant,,ENST00000594682,;ZNF83,5_prime_UTR_variant,,ENST00000536937,;ZNF83,5_prime_UTR_variant,,ENST00000600714,;ZNF83,5_prime_UTR_variant,,ENST00000596930,;ZNF83,5_prime_UTR_variant,,ENST00000544146,;ZNF83,5_prime_UTR_variant,,ENST00000545872,;ZNF83,non_coding_transcript_exon_variant,,ENST00000595171,;ZNF83,non_coding_transcript_exon_variant,,ENST00000596440,;ZNF83,5_prime_UTR_variant,,ENST00000601140,;ZNF83,5_prime_UTR_variant,,ENST00000595939,;ZNF83,non_coding_transcript_exon_variant,,ENST00000601237,;ZNF83,non_coding_transcript_exon_variant,,ENST00000602232,;	1937	11	10	SUCCESS
ZNF835	90485	.	GRCh37	19	57175640	57175640	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775095344	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	14	0	ENST00000537055.2:c.927G>T	p.Gln309His	p.Q309H	ENST00000537055	NM_001005850.2	309	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS56105.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CAGTCCTGGCA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	rs775095344	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.085)	.	tolerated(0.28)	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,missense_variant,p.Gln309His,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1159	14	17	SUCCESS
PTPN22	26191	.	GRCh37	1	114380814	114380814	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	39	111	0	ENST00000359785.5:c.1208C>T	p.Pro403Leu	p.P403L	ENST00000359785	NM_015967.5	403	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS863.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTGGAAAT	NONE	.	.	PIRSF_domain:PIRSF000930	.	.	ENSP00000352833	.	13/21	.	.	.	.	.	.	.	.	COSM3471485	13/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.031)	.	tolerated(0.07)	1	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Pro348Leu,ENST00000528414,;PTPN22,missense_variant,p.Pro403Leu,ENST00000420377,;PTPN22,missense_variant,p.Pro403Leu,ENST00000359785,;PTPN22,missense_variant,p.Pro276Leu,ENST00000525799,;PTPN22,missense_variant,p.Pro159Leu,ENST00000538253,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	1344	111	110	SUCCESS
MCL1	4170	.	GRCh37	1	150551951	150551951	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1490867890	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	31	74	0	ENST00000369026.2:c.56C>T	p.Ala19Val	p.A19V	ENST00000369026	NM_021960.4	19	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS957.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGCCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000358022	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369026	Transcript	.	.	ENSG00000143384	6943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious_low_confidence(0.01)	.	MCL1_HUMAN	MCL1	HGNC	B4DG83_HUMAN	.	UPI000006D775	SNV	MCL1,missense_variant,p.Ala19Val,ENST00000369026,;MCL1,missense_variant,p.Ala19Val,ENST00000307940,;MCL1,upstream_gene_variant,,ENST00000464132,;	116	74	127	SUCCESS
THEM4	117145	.	GRCh37	1	151867506	151867506	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	9	83	0	ENST00000368814.3:c.264A>C	p.Gln88His	p.Q88H	ENST00000368814	NM_053055.4	88	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS1006.1	264	MUTECT|MUSE	.	AAGTCTTGAAT	NONE	.	.	hmmpanther:PTHR12418:SF19,hmmpanther:PTHR12418,Superfamily_domains:SSF54637	.	.	ENSP00000357804	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000368814	Transcript	.	.	ENSG00000159445	17947	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	tolerated(0.2)	.	THEM4_HUMAN	THEM4	HGNC	.	.	UPI000045625A	SNV	THEM4,missense_variant,p.Gln88His,ENST00000368814,;THEM4,missense_variant,p.Gln88His,ENST00000489410,;THEM4,missense_variant,p.Gln88His,ENST00000471464,;THEM4,upstream_gene_variant,,ENST00000483207,;	614	83	212	SUCCESS
PKLR	5313	.	GRCh37	1	155270745	155270745	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	187	39	90	0	ENST00000342741.4:c.100+342G>T		p.*34*	ENST00000342741	NM_000298.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1109.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCATGAG	NONE	.	.	.	.	.	ENSP00000339933	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342741	Transcript	.	.	ENSG00000143627	9020	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KPYR_HUMAN	PKLR	HGNC	Q16715_HUMAN,B4DPM0_HUMAN	.	UPI0000001292	SNV	PKLR,5_prime_UTR_variant,,ENST00000392414,;PKLR,intron_variant,,ENST00000342741,;PKLR,start_lost,p.Met1?,ENST00000434082,;	.	90	226	SUCCESS
PEAR1	375033	.	GRCh37	1	156878092	156878092	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1355647842	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	51	0	ENST00000292357.7:c.1075T>C	p.Cys359Arg	p.C359R	ENST00000292357	NM_001080471.1	359	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS30892.1	1075	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTGCCAG	NONE	.	.	SMART_domains:SM00181,SMART_domains:SM00180,Gene3D:2gy5A03,hmmpanther:PTHR24052:SF9,hmmpanther:PTHR24052	.	.	ENSP00000344465	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000338302	Transcript	.	.	ENSG00000187800	33631	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PEAR1_HUMAN	PEAR1	HGNC	A6PVP2_HUMAN	.	UPI000045889A	SNV	PEAR1,missense_variant,p.Cys359Arg,ENST00000338302,;PEAR1,missense_variant,p.Cys359Arg,ENST00000292357,;PEAR1,downstream_gene_variant,,ENST00000455314,;PEAR1,non_coding_transcript_exon_variant,,ENST00000469390,;PEAR1,downstream_gene_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;	1300	51	104	SUCCESS
IFI16	3428	.	GRCh37	1	158988074	158988074	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	108	120	0	ENST00000295809.7:c.605A>T	p.Lys202Ile	p.K202I	ENST00000295809		202	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS1180.3	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAAACGCC	NONE	.	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200:SF5,hmmpanther:PTHR12200,Pfam_domain:PF02760,Gene3D:2.40.50.140,Superfamily_domains:SSF159141	.	.	ENSP00000357113	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000368131	Transcript	.	.	ENSG00000163565	5395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	deleterious(0)	.	IF16_HUMAN	IFI16	HGNC	H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN	.	UPI00001412C9	SNV	IFI16,missense_variant,p.Lys44Ile,ENST00000567661,;IFI16,missense_variant,p.Lys202Ile,ENST00000295809,;IFI16,missense_variant,p.Lys202Ile,ENST00000340979,;IFI16,missense_variant,p.Lys150Ile,ENST00000430894,;IFI16,missense_variant,p.Lys202Ile,ENST00000368132,;IFI16,missense_variant,p.Lys202Ile,ENST00000368131,;IFI16,missense_variant,p.Lys44Ile,ENST00000474473,;IFI16,missense_variant,p.Lys202Ile,ENST00000448393,;IFI16,missense_variant,p.Lys146Ile,ENST00000359709,;IFI16,downstream_gene_variant,,ENST00000566111,;IFI16,downstream_gene_variant,,ENST00000426592,;IFI16,downstream_gene_variant,,ENST00000447473,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;	895	120	326	SUCCESS
PRRC2C	23215	.	GRCh37	1	171510373	171510373	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	353	24	144	0	ENST00000338920.4:c.3762C>T	p.Val1254=	p.V1254=	ENST00000338920	NM_015172.3	1254	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1296.2	3762	MUTECT|MUSE	.	GTTGTCCCCAA	NONE	.	.	hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038	.	.	ENSP00000343629	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,synonymous_variant,p.%3D,ENST00000338920,;PRRC2C,synonymous_variant,p.%3D,ENST00000367742,;PRRC2C,synonymous_variant,p.%3D,ENST00000426496,;PRRC2C,synonymous_variant,p.%3D,ENST00000392078,;PRRC2C,upstream_gene_variant,,ENST00000495585,;	3999	144	378	SUCCESS
TDRD5	163589	.	GRCh37	1	179564922	179564922	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	37	94	0	ENST00000294848.8:c.800C>G	p.Ser267Ter	p.S267*	ENST00000294848	NM_173533.3	267	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS55663.1	800	RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCAAGAC	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,stop_gained,p.Ser267Ter,ENST00000367614,;TDRD5,stop_gained,p.Ser267Ter,ENST00000444136,;TDRD5,stop_gained,p.Ser267Ter,ENST00000294848,;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;	1050	94	231	SUCCESS
KIAA1614	57710	.	GRCh37	1	180897384	180897384	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	17	0	ENST00000367588.4:c.1062-182C>A		p.*354*	ENST00000367588	NM_020950.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41442.1	.	MUTECT|MUSE	.	CAGCCCCAGGC	NONE	.	.	.	.	.	ENSP00000356560	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367588	Transcript	.	.	ENSG00000135835	29327	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1614_HUMAN	KIAA1614	HGNC	.	.	UPI00001C1D75	SNV	KIAA1614,5_prime_UTR_variant,,ENST00000367587,;KIAA1614,intron_variant,,ENST00000367588,;KIAA1614,upstream_gene_variant,,ENST00000483705,;	.	17	20	SUCCESS
JMJD4	65094	.	GRCh37	1	227922402	227922402	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	245	246	0	ENST00000366758.3:c.516C>T	p.Gly172=	p.G172=	ENST00000366758	NM_023007.2	172	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1561.1	516	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GAGTAGCCCGC	NONE	.	.	hmmpanther:PTHR12480:SF6,hmmpanther:PTHR12480,Gene3D:1vrbA01,Pfam_domain:PF13621,Superfamily_domains:SSF51197	.	.	ENSP00000355720	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000366758	Transcript	.	.	ENSG00000081692	25724	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JMJD4_HUMAN	JMJD4	HGNC	.	.	UPI000013FE0C	SNV	JMJD4,synonymous_variant,p.%3D,ENST00000438896,;JMJD4,synonymous_variant,p.%3D,ENST00000366758,;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000366759,;SNAP47,upstream_gene_variant,,ENST00000315781,;SNAP47,upstream_gene_variant,,ENST00000418653,;SNAP47,upstream_gene_variant,,ENST00000426344,;JMJD4,non_coding_transcript_exon_variant,,ENST00000480590,;SNAP47,intron_variant,,ENST00000491439,;SNAP47,intron_variant,,ENST00000475930,;SNAP47,upstream_gene_variant,,ENST00000470038,;JMJD4,upstream_gene_variant,,ENST00000465251,;SNAP47,downstream_gene_variant,,ENST00000480265,;JMJD4,upstream_gene_variant,,ENST00000485807,;SNAP47,downstream_gene_variant,,ENST00000480897,;	516	246	420	SUCCESS
EPHB2	2048	.	GRCh37	1	23232489	23232489	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	90	0	ENST00000400191.3:c.1775G>T	p.Gly592Val	p.G592V	ENST00000400191	NM_004442.6	592	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS230.1	1778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCATGA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	.	.	ENSP00000363763	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,missense_variant,p.Gly587Val,ENST00000374627,;EPHB2,missense_variant,p.Gly593Val,ENST00000374632,;EPHB2,missense_variant,p.Gly592Val,ENST00000400191,;EPHB2,missense_variant,p.Gly592Val,ENST00000374630,;	1791	90	78	SUCCESS
HEATR1	55127	.	GRCh37	1	236749177	236749177	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	224	16	127	0	ENST00000366582.3:c.1992G>C	p.Met664Ile	p.M664I	ENST00000366582	NM_018072.5	664	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS31066.1	1992	MUTECT|MUSE	.	TCAATCATCTT	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR13457:SF1,hmmpanther:PTHR13457	.	.	ENSP00000355541	.	16/45	.	.	.	.	.	.	.	.	.	16/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.12)	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	SNV	HEATR1,missense_variant,p.Met664Ile,ENST00000366581,;HEATR1,missense_variant,p.Met664Ile,ENST00000366582,;	2107	127	240	SUCCESS
SFPQ	6421	.	GRCh37	1	35656352	35656352	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	53	131	0	ENST00000357214.5:c.1262A>C	p.Lys421Thr	p.K421T	ENST00000357214	NM_005066.2	421	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS388.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTTAGAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF42,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000349748	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000357214	Transcript	.	.	ENSG00000116560	10774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	SFPQ_HUMAN	SFPQ	HGNC	Q9BSV4_HUMAN	.	UPI00001358B9	SNV	SFPQ,missense_variant,p.Lys421Thr,ENST00000357214,;SFPQ,upstream_gene_variant,,ENST00000470472,;SFPQ,upstream_gene_variant,,ENST00000460428,;	1361	131	141	SUCCESS
STIL	6491	.	GRCh37	1	47748019	47748019	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	28	0	ENST00000360380.3:c.1246A>G	p.Lys416Glu	p.K416E	ENST00000360380	NM_001282936.1	416	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS41329.1	1246	MUTECT|MUSE	.	TACCTTCTGAC	NONE	.	.	hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0,Pfam_domain:PF15253	.	.	ENSP00000360944	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.885)	.	deleterious(0.03)	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	SNV	STIL,missense_variant,p.Lys416Glu,ENST00000337817,;STIL,missense_variant,p.Lys416Glu,ENST00000396221,;STIL,missense_variant,p.Lys416Glu,ENST00000243182,;STIL,missense_variant,p.Lys369Glu,ENST00000447475,;STIL,missense_variant,p.Lys416Glu,ENST00000371877,;STIL,missense_variant,p.Lys416Glu,ENST00000360380,;STIL,upstream_gene_variant,,ENST00000436811,;STIL,splice_region_variant,,ENST00000418131,;	1394	28	37	SUCCESS
TCTEX1D1	0	.	GRCh37	1	67241997	67241997	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	84	162	0	ENST00000282670.2:c.247C>G	p.His83Asp	p.H83D	ENST00000282670	NM_152665.2	83	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS633.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATCATATT	NONE	.	.	hmmpanther:PTHR21255,hmmpanther:PTHR21255:SF2,Pfam_domain:PF03645	.	.	ENSP00000282670	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000282670	Transcript	.	.	ENSG00000152760	26882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.83)	.	TC1D1_HUMAN	TCTEX1D1	HGNC	.	.	UPI000013DCF4	SNV	TCTEX1D1,missense_variant,p.His83Asp,ENST00000282670,;TCTEX1D1,downstream_gene_variant,,ENST00000448074,;TCTEX1D1,3_prime_UTR_variant,,ENST00000528352,;TCTEX1D1,non_coding_transcript_exon_variant,,ENST00000489510,;	375	162	207	SUCCESS
PTGER3	5733	.	GRCh37	1	71478142	71478142	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	61	0	ENST00000306666.5:c.923A>T	p.Asn308Ile	p.N308I	ENST00000306666	NM_198719.1	308	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS655.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATTGAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00582	.	.	ENSP00000349003	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious(0.02)	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,missense_variant,p.Asn308Ile,ENST00000370932,;PTGER3,missense_variant,p.Asn308Ile,ENST00000306666,;PTGER3,missense_variant,p.Asn308Ile,ENST00000351052,;PTGER3,missense_variant,p.Asn308Ile,ENST00000354608,;PTGER3,missense_variant,p.Asn308Ile,ENST00000356595,;PTGER3,missense_variant,p.Asn308Ile,ENST00000370924,;PTGER3,missense_variant,p.Asn308Ile,ENST00000460330,;PTGER3,missense_variant,p.Asn308Ile,ENST00000370931,;PTGER3,missense_variant,p.Asn308Ile,ENST00000414819,;PTGER3,missense_variant,p.Asn308Ile,ENST00000361210,;PTGER3,missense_variant,p.Asn308Ile,ENST00000479353,;PTGER3,missense_variant,p.Asn308Ile,ENST00000497146,;	1134	61	89	SUCCESS
RPAP2	79871	.	GRCh37	1	92789250	92789250	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	67	116	0	ENST00000610020.1:c.773C>G	p.Ser258Cys	p.S258C	ENST00000610020	NM_024813.2	258	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS740.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACTCCAAAC	NONE	.	.	hmmpanther:PTHR14732:SF0,hmmpanther:PTHR14732	.	.	ENSP00000476948	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000610020	Transcript	.	.	ENSG00000122484	25791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	tolerated(0.08)	.	RPAP2_HUMAN	RPAP2	HGNC	.	.	UPI0000074323	SNV	RPAP2,missense_variant,p.Ser258Cys,ENST00000610020,;RPAP2,non_coding_transcript_exon_variant,,ENST00000484158,;	882	116	138	SUCCESS
MYLK2	85366	.	GRCh37	20	30409394	30409394	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	60	136	1	ENST00000375985.4:c.626A>G	p.Glu209Gly	p.E209G	ENST00000375985	NM_033118.3	209	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS13191.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGAGAAAA	NONE	.	.	hmmpanther:PTHR24347:SF118,hmmpanther:PTHR24347	.	.	ENSP00000365162	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000375994	Transcript	1	.	ENSG00000101306	16243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0.01)	.	MYLK2_HUMAN	MYLK2	HGNC	.	.	UPI0000041851	SNV	MYLK2,missense_variant,p.Glu209Gly,ENST00000375985,;MYLK2,missense_variant,p.Glu209Gly,ENST00000375994,;	899	137	163	SUCCESS
TCF15	6939	.	GRCh37	20	590549	590549	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	40	0	ENST00000246080.3:c.333C>T	p.Ile111=	p.I111=	ENST00000246080	NM_004609.3	111	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33432.1	333	RADIA|MUSE	.	GTCTCGATCTT	BUFFER|p.V114L|c.340G>C|12,BUFFER|p.T113T|c.339C>G|12	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR23349:SF4,hmmpanther:PTHR23349,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000246080	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000246080	Transcript	.	.	ENSG00000125878	11627	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCF15_HUMAN	TCF15	HGNC	.	.	UPI000013CBD4	SNV	TCF15,synonymous_variant,p.%3D,ENST00000246080,;	494	40	27	SUCCESS
LINC00205	642852	.	GRCh37	21	46713386	46713386	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs556480336	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	83	0	ENST00000433465.1:n.187C>T		p.*63*	ENST00000433465				0	.	T:0	.	T:0.0014	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACGAGAG	NONE	by1000G	.	.	T:0	.	.	T:0	1/2	.	.	.	.	.	.	.	.	rs556480336	1/2	PASS	ENST00000433465	Transcript	.	T:0.0002	ENSG00000223768	16420	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	LINC00205	HGNC	.	.	.	SNV	LINC00205,non_coding_transcript_exon_variant,,ENST00000433465,;BX322557.10,downstream_gene_variant,,ENST00000400362,;BX322557.10,downstream_gene_variant,,ENST00000454115,;	187	83	79	SUCCESS
AC002472.13	0	.	GRCh37	22	21403327	21403327	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	229	45	155	1	ENST00000442047.1:c.503T>C	p.Met168Thr	p.M168T	ENST00000442047		168	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	.	503	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATGCAGC	NONE	.	.	hmmpanther:PTHR24114:SF16,hmmpanther:PTHR24114,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000341179	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000342608	Transcript	.	.	ENSG00000187905	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.036)	.	deleterious(0.01)	.	YV012_HUMAN	AC002472.13	Clone_based_vega_gene	.	.	UPI0001642928	SNV	AC002472.13,missense_variant,p.Met168Thr,ENST00000442047,;AC002472.13,missense_variant,p.Met168Thr,ENST00000342608,;AC002472.13,3_prime_UTR_variant,,ENST00000543388,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000473769,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000497328,;P2RX6P,upstream_gene_variant,,ENST00000439119,;P2RX6P,upstream_gene_variant,,ENST00000450626,;P2RX6P,upstream_gene_variant,,ENST00000382931,;	530	156	274	SUCCESS
SUSD2	56241	.	GRCh37	22	24582054	24582054	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	47	126	0	ENST00000358321.3:c.1410G>A	p.Glu470=	p.E470=	ENST00000358321	NM_019601.3	470	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS13824.1	1410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGTACGT	NONE	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS51233	.	.	ENSP00000351075	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,synonymous_variant,p.%3D,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	1671	126	197	SUCCESS
MORC2	22880	.	GRCh37	22	31333805	31333805	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1237819801	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	98	124	0	ENST00000397641.3:c.1366A>G	p.Ile456Val	p.I456V	ENST00000397641		456	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33636.1	1180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGATGGCAA	NONE	.	.	hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337	.	.	ENSP00000215862	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000215862	Transcript	.	.	ENSG00000133422	23573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.03)	.	MORC2_HUMAN	MORC2	HGNC	.	.	UPI000012DB74	SNV	MORC2,missense_variant,p.Ile394Val,ENST00000215862,;MORC2,missense_variant,p.Ile456Val,ENST00000397641,;MORC2,upstream_gene_variant,,ENST00000445980,;MORC2,intron_variant,,ENST00000469915,;MORC2,downstream_gene_variant,,ENST00000476152,;	2544	124	201	SUCCESS
TNRC6B	23112	.	GRCh37	22	40660706	40660706	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367663125	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	32	86	0	ENST00000454349.2:c.472G>A	p.Gly158Ser	p.G158S	ENST00000454349	NM_001162501.1	158	Ggt/Agt	0	T:0	.	.	.	.	A	G/S	protein_coding	YES	CCDS54533.1	472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGGTGCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32	.	T:0.0001	ENSP00000401946	.	5/23	.	.	.	.	.	.	.	.	rs367663125	5/23	PASS	ENST00000454349	Transcript	.	.	ENSG00000100354	29190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.08)	.	TNR6B_HUMAN	TNRC6B	HGNC	.	.	UPI00017A6F19	SNV	TNRC6B,missense_variant,p.Gly158Ser,ENST00000454349,;TNRC6B,missense_variant,p.Gly158Ser,ENST00000335727,;TNRC6B,intron_variant,,ENST00000402203,;TNRC6B,intron_variant,,ENST00000301923,;TNRC6B,upstream_gene_variant,,ENST00000446273,;	683	86	124	SUCCESS
XRCC6	2547	.	GRCh37	22	42057392	42057407	+	frameshift_variant	Frame_Shift_Del	DEL	AGCTTGTTTACCCACC	AGCTTGTTTACCCACC	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	AGCTTGTTTACCCACC	AGCTTGTTTACCCACC	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	64	0	ENST00000359308.4:c.1582_1597del	p.Leu528IlefsTer32	p.L528Ifs*32	ENST00000359308		527	gAGCTTGTTTACCCACCa/ga	0	.	.	.	.	.	-	ELVYPP/X	protein_coding	YES	CCDS14021.1	1580-1595	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAAGGAGCTTGTTTACCCACCAGATT	NONE	.	.	hmmpanther:PTHR12604,hmmpanther:PTHR12604:SF2,TIGRFAM_domain:TIGR00578,Gene3D:1.10.1600.10,Pfam_domain:PF03730,PIRSF_domain:PIRSF003033,Superfamily_domains:SSF100939	.	.	ENSP00000352257	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000359308	Transcript	.	.	ENSG00000196419	4055	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XRCC6_HUMAN	XRCC6	HGNC	F5H1I8_HUMAN	.	UPI0000000C8F	deletion	XRCC6,frameshift_variant,p.Leu528IlefsTer32,ENST00000405878,;XRCC6,frameshift_variant,p.Leu478IlefsTer32,ENST00000405506,;XRCC6,frameshift_variant,p.Leu528IlefsTer32,ENST00000359308,;XRCC6,frameshift_variant,p.Leu395IlefsTer32,ENST00000428575,;XRCC6,frameshift_variant,p.Leu487IlefsTer32,ENST00000402580,;XRCC6,frameshift_variant,p.Leu528IlefsTer32,ENST00000360079,;XRCC6,non_coding_transcript_exon_variant,,ENST00000478914,;	2235-2250	64	90	SUCCESS
REV1	51455	.	GRCh37	2	100029414	100029414	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	113	0	ENST00000258428.3:c.1952-1G>A		p.X651_splice	ENST00000258428	NM_001037872.1	651		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2045.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCCTAGGA	NONE	.	.	.	.	.	ENSP00000258428	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258428	Transcript	.	.	ENSG00000135945	14060	.	.	HIGH	12/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REV1_HUMAN	REV1	HGNC	.	.	UPI0000073A14	SNV	REV1,splice_acceptor_variant,,ENST00000258428,;REV1,splice_acceptor_variant,,ENST00000393445,;REV1,splice_acceptor_variant,,ENST00000465835,;REV1,non_coding_transcript_exon_variant,,ENST00000482595,;REV1,splice_acceptor_variant,,ENST00000413697,;REV1,upstream_gene_variant,,ENST00000477121,;REV1,upstream_gene_variant,,ENST00000438366,;	.	113	111	SUCCESS
LRP1B	53353	.	GRCh37	2	141819744	141819744	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	54	146	0	ENST00000389484.3:c.1112A>C	p.Gln371Pro	p.Q371P	ENST00000389484	NM_018557.2	371	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2182.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTGCTCT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	8/91	.	.	.	.	.	.	.	.	.	8/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Gln371Pro,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	2084	146	151	SUCCESS
PDE11A	50940	.	GRCh37	2	178545631	178545631	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs768948955	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	34	0	ENST00000286063.6:c.2346G>T	p.Glu782Asp	p.E782D	ENST00000286063	NM_016953.3	782	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS33334.1	2346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCCTGCA	NONE	byFrequency	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000286063	.	16/20	.	.	.	.	.	.	.	.	rs768948955,COSM402054,COSM402055	16/20	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.663)	.	tolerated(0.07)	0,1,1	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,missense_variant,p.Glu390Asp,ENST00000433879,;PDE11A,missense_variant,p.Glu532Asp,ENST00000358450,;PDE11A,missense_variant,p.Glu782Asp,ENST00000286063,;PDE11A,missense_variant,p.Glu338Asp,ENST00000389683,;PDE11A,missense_variant,p.Glu424Asp,ENST00000449286,;PDE11A,missense_variant,p.Glu424Asp,ENST00000409504,;PDE11A,splice_region_variant,,ENST00000466790,;PDE11A,upstream_gene_variant,,ENST00000488399,;	2664	34	22	SUCCESS
HS1BP3	64342	.	GRCh37	2	20823705	20823705	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	73	0	ENST00000304031.3:c.871G>T	p.Gly291Trp	p.G291W	ENST00000304031	NM_022460.3	291	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS1700.1	871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCTCCAC	NONE	.	.	hmmpanther:PTHR14431:SF0,hmmpanther:PTHR14431	.	.	ENSP00000305193	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000304031	Transcript	.	.	ENSG00000118960	24979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0.01)	.	H1BP3_HUMAN	HS1BP3	HGNC	.	.	UPI000013E92A	SNV	HS1BP3,missense_variant,p.Gly84Trp,ENST00000445102,;HS1BP3,missense_variant,p.Gly110Trp,ENST00000458740,;HS1BP3,missense_variant,p.Gly291Trp,ENST00000304031,;HS1BP3,missense_variant,p.Gly44Trp,ENST00000415264,;HS1BP3,3_prime_UTR_variant,,ENST00000446825,;	897	73	87	SUCCESS
CCDC108	0	.	GRCh37	2	219892384	219892384	+	synonymous_variant	Silent	SNP	G	G	A	rs1244525585	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	78	171	0	ENST00000341552.5:c.2199C>T	p.Phe733=	p.F733=	ENST00000341552	NM_194302.3	733	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS2430.2	2199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGAAGGC	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,synonymous_variant,p.%3D,ENST00000410037,;CCDC108,synonymous_variant,p.%3D,ENST00000441968,;CCDC108,synonymous_variant,p.%3D,ENST00000453220,;CCDC108,synonymous_variant,p.%3D,ENST00000409865,;CCDC108,synonymous_variant,p.%3D,ENST00000341552,;CCDC108,downstream_gene_variant,,ENST00000436631,;CCDC108,downstream_gene_variant,,ENST00000457968,;CCDC108,non_coding_transcript_exon_variant,,ENST00000462848,;CCDC108,non_coding_transcript_exon_variant,,ENST00000474601,;CCDC108,non_coding_transcript_exon_variant,,ENST00000463683,;	2283	171	230	SUCCESS
ALK	238	.	GRCh37	2	29451807	29451807	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	147	277	1	ENST00000389048.3:c.2758G>T	p.Gly920Cys	p.G920C	ENST00000389048	NM_004304.4	920	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33172.1	2758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCCCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276,Pfam_domain:PF12810	.	.	ENSP00000373700	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Gly920Cys,ENST00000389048,;ALK,intron_variant,,ENST00000431873,;	3665	278	319	SUCCESS
DRD3	1814	.	GRCh37	3	113850192	113850192	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	62	112	0	ENST00000460779.1:c.779A>C	p.Gln260Pro	p.Q260P	ENST00000460779	NM_001282563.1	260	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS2978.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTGGCAG	NONE	.	.	Prints_domain:PR00568,Pfam_domain:PF00001,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF38,PROSITE_profiles:PS50262	.	.	ENSP00000373169	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000383673	Transcript	.	.	ENSG00000151577	3024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.713)	.	tolerated(0.32)	.	DRD3_HUMAN	DRD3	HGNC	.	.	UPI000013E2C2	SNV	DRD3,missense_variant,p.Gln260Pro,ENST00000467632,;DRD3,missense_variant,p.Gln260Pro,ENST00000295881,;DRD3,missense_variant,p.Gln260Pro,ENST00000383673,;DRD3,missense_variant,p.Gln260Pro,ENST00000460779,;	1210	112	175	SUCCESS
TMEM43	79188	.	GRCh37	3	14180787	14180787	+	synonymous_variant	Silent	SNP	C	C	T	rs780129544	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	97	0	ENST00000306077.4:c.990C>T	p.Leu330=	p.L330=	ENST00000306077	NM_024334.2	330	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2618.1	990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCTACAC	NONE	byFrequency	.	Pfam_domain:PF07787,hmmpanther:PTHR13416:SF0,hmmpanther:PTHR13416,Transmembrane_helices:TMhelix	.	.	ENSP00000303992	.	11/12	.	.	.	.	.	.	.	.	rs780129544	11/12	PASS	ENST00000306077	Transcript	.	.	ENSG00000170876	28472	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM43_HUMAN	TMEM43	HGNC	.	.	UPI0000048F42	SNV	TMEM43,synonymous_variant,p.%3D,ENST00000306077,;RP11-434D12.1,non_coding_transcript_exon_variant,,ENST00000601399,;RP11-434D12.1,synonymous_variant,p.%3D,ENST00000608606,;	1244	97	145	SUCCESS
ZIC1	7545	.	GRCh37	3	147128512	147128526	+	inframe_deletion	In_Frame_Del	DEL	GCCGCGCATCACGGC	GCCGCGCATCACGGC	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	GCCGCGCATCACGGC	GCCGCGCATCACGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	14	34	113	0	ENST00000282928.4:c.617_631del	p.Ala206_Ala210del	p.A206_A210del	ENST00000282928	NM_003412.3	205	GCCGCGCATCACGGC/-	0	.	.	.	.	.	-	AAHHG/-	protein_coding	YES	CCDS3136.1	613-627	INDELOCATOR*|VARSCANI*|PINDEL	.	AACATGGCCGCGCATCACGGCGCCGG	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26	.	.	ENSP00000282928	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	deletion	ZIC1,inframe_deletion,p.Ala206_Ala210del,ENST00000282928,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000491672,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	1342-1356	113	48	SUCCESS
P2RY12	64805	.	GRCh37	3	151055763	151055763	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770714899	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	40	99	0	ENST00000302632.3:c.871G>T	p.Ala291Ser	p.A291S	ENST00000302632	NM_022788.4	291	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3159.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCATTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000307259	.	3/3	.	.	.	.	.	.	.	.	rs770714899	3/3	PASS	ENST00000302632	Transcript	.	.	ENSG00000169313	18124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	tolerated(0.28)	.	P2Y12_HUMAN	P2RY12	HGNC	.	.	UPI0000001662	SNV	P2RY12,missense_variant,p.Ala291Ser,ENST00000302632,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000273432,;MED12L,downstream_gene_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;P2RY12,downstream_gene_variant,,ENST00000468596,;	1171	99	59	SUCCESS
MME	4311	.	GRCh37	3	154861272	154861272	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201238171	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	6	179	0	ENST00000360490.2:c.1229G>C	p.Arg410Pro	p.R410P	ENST00000360490	NM_007289.2	410	cGt/cCt	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS3172.1	1229	MUTECT|MUSE	.	GAGACGTTGTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF114,hmmpanther:PTHR11733	.	.	ENSP00000418525	.	13/23	.	.	.	.	.	.	.	.	rs201238171	13/23	PASS	ENST00000460393	Transcript	.	.	ENSG00000196549	7154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.678)	.	deleterious(0.03)	.	NEP_HUMAN	MME	HGNC	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN	.	UPI0000033C41	SNV	MME,missense_variant,p.Arg410Pro,ENST00000360490,;MME,missense_variant,p.Arg410Pro,ENST00000460393,;MME,missense_variant,p.Arg410Pro,ENST00000492661,;MME,missense_variant,p.Arg410Pro,ENST00000493237,;MME,missense_variant,p.Arg410Pro,ENST00000462745,;	1349	179	130	SUCCESS
SST	6750	.	GRCh37	3	187388043	187388043	+	synonymous_variant	Silent	SNP	G	G	A	rs770602806	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	118	0	ENST00000287641.3:c.37C>T	p.Leu13=	p.L13=	ENST00000287641	NM_001048.3	13	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3288.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAGCGCAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257,hmmpanther:PTHR10558,PIRSF_domain:PIRSF001814	.	.	ENSP00000287641	.	1/2	.	.	.	.	.	.	.	.	rs770602806	1/2	PASS	ENST00000287641	Transcript	.	.	ENSG00000157005	11329	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMS_HUMAN	SST	HGNC	.	.	UPI0000135AE3	SNV	SST,synonymous_variant,p.%3D,ENST00000287641,;	145	118	99	SUCCESS
RBM6	10180	.	GRCh37	3	50103698	50103698	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs150609021	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	43	0	ENST00000266022.4:c.2706del	p.Ile902MetfsTer69	p.I902Mfs*69	ENST00000266022	NM_005777.2	902	atC/at	0	T:0.0016	T:0.0008	.	T:0	.	-	I/X	protein_coding	YES	CCDS2809.1	2706	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGATCGGCCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR13948:SF22,hmmpanther:PTHR13948	T:0	T:0.0001	ENSP00000266022	T:0	17/21	.	.	.	.	.	.	.	.	rs150609021	17/21	PASS	ENST00000266022	Transcript	.	T:0.0002	ENSG00000004534	9903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	RBM6_HUMAN	RBM6	HGNC	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN	.	UPI000013D6C0	deletion	RBM6,frameshift_variant,p.Ile244MetfsTer69,ENST00000539992,;RBM6,frameshift_variant,p.Ile380MetfsTer69,ENST00000442092,;RBM6,frameshift_variant,p.Ile902MetfsTer69,ENST00000266022,;RBM6,frameshift_variant,p.Ile380MetfsTer69,ENST00000422955,;RBM6,frameshift_variant,p.Ile770MetfsTer69,ENST00000443081,;RBM6,upstream_gene_variant,,ENST00000421682,;RBM6,downstream_gene_variant,,ENST00000438912,;RBM6,non_coding_transcript_exon_variant,,ENST00000441115,;RBM6,3_prime_UTR_variant,,ENST00000454079,;RBM6,3_prime_UTR_variant,,ENST00000419610,;RBM6,3_prime_UTR_variant,,ENST00000434592,;	2965	43	53	SUCCESS
MITF	4286	.	GRCh37	3	69813025	69813025	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	69	0	ENST00000352241.4:c.104+24173C>T		p.*35*	ENST00000352241	NM_198159.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43106.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCCCACG	NONE	.	.	.	.	.	ENSP00000295600	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000352241	Transcript	.	.	ENSG00000187098	7105	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MITF_HUMAN	MITF	HGNC	C9K0S7_HUMAN	.	UPI000002ADF8	SNV	MITF,synonymous_variant,p.%3D,ENST00000457080,;MITF,synonymous_variant,p.%3D,ENST00000328528,;MITF,intron_variant,,ENST00000433517,;MITF,intron_variant,,ENST00000472437,;MITF,intron_variant,,ENST00000352241,;MITF,intron_variant,,ENST00000429090,;MITF,intron_variant,,ENST00000448226,;MITF,intron_variant,,ENST00000495741,;	.	69	82	SUCCESS
PPP3CA	5530	.	GRCh37	4	101982264	101982264	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	285	82	380	0	ENST00000394854.3:c.1136C>T	p.Ser379Leu	p.S379L	ENST00000394854	NM_000944.4	379	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS34037.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGACCCT	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF192,Superfamily_domains:SSF56300	.	.	ENSP00000378323	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000394854	Transcript	.	.	ENSG00000138814	9314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.05)	.	PP2BA_HUMAN	PPP3CA	HGNC	Q9UMM5_HUMAN,Q9UMB2_HUMAN,E9PPC8_HUMAN,E9PK68_HUMAN,E7ETC2_HUMAN	.	UPI0000110660	SNV	PPP3CA,missense_variant,p.Ser147Leu,ENST00000512215,;PPP3CA,missense_variant,p.Ser379Leu,ENST00000394854,;PPP3CA,missense_variant,p.Ser281Leu,ENST00000507176,;PPP3CA,missense_variant,p.Ser312Leu,ENST00000523694,;PPP3CA,missense_variant,p.Ser379Leu,ENST00000394853,;PPP3CA,missense_variant,p.Ser337Leu,ENST00000323055,;	1820	380	368	SUCCESS
BANK1	55024	.	GRCh37	4	102783739	102783739	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	63	128	0	ENST00000322953.4:c.681G>T	p.Glu227Asp	p.E227D	ENST00000322953	NM_017935.4	227	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS34038.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGAGGTTGA	NONE	.	.	Pfam_domain:PF14545,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF10,PROSITE_profiles:PS51376	.	.	ENSP00000320509	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000322953	Transcript	1	.	ENSG00000153064	18233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	BANK1_HUMAN	BANK1	HGNC	.	.	UPI0000D6159D	SNV	BANK1,missense_variant,p.Glu94Asp,ENST00000508653,;BANK1,missense_variant,p.Glu94Asp,ENST00000428908,;BANK1,missense_variant,p.Glu212Asp,ENST00000504592,;BANK1,missense_variant,p.Glu197Asp,ENST00000444316,;BANK1,missense_variant,p.Glu227Asp,ENST00000322953,;	955	128	166	SUCCESS
UVSSA	57654	.	GRCh37	4	1377635	1377635	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	55	0	ENST00000389851.4:c.1943G>A	p.Gly648Asp	p.G648D	ENST00000389851	NM_020894.2	648	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS33938.1	1943	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGCAGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000374501	.	13/14	.	.	.	.	.	.	.	.	COSM1051313	13/14	PASS	ENST00000389851	Transcript	1	.	ENSG00000163945	29304	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.076)	.	tolerated(0.07)	1	UVSSA_HUMAN	UVSSA	HGNC	.	.	UPI00001C1E0C	SNV	UVSSA,missense_variant,p.Gly199Asp,ENST00000512728,;UVSSA,missense_variant,p.Gly648Asp,ENST00000507531,;UVSSA,missense_variant,p.Gly648Asp,ENST00000389851,;UVSSA,missense_variant,p.Gly648Asp,ENST00000511216,;UVSSA,missense_variant,p.Gly199Asp,ENST00000511563,;UVSSA,upstream_gene_variant,,ENST00000507422,;UVSSA,3_prime_UTR_variant,,ENST00000503548,;	2390	55	40	SUCCESS
NFXL1	152518	.	GRCh37	4	47916121	47916121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	79	0	ENST00000329043.3:c.100G>A	p.Gly34Arg	p.G34R	ENST00000329043		34	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS3478.2	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCGGCGC	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1	.	.	ENSP00000422037	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.577)	.	tolerated_low_confidence(0.29)	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,missense_variant,p.Gly34Arg,ENST00000381538,;NFXL1,missense_variant,p.Gly34Arg,ENST00000507489,;NFXL1,missense_variant,p.Gly34Arg,ENST00000329043,;NIPAL1,upstream_gene_variant,,ENST00000513724,;NIPAL1,upstream_gene_variant,,ENST00000500571,;NFXL1,missense_variant,p.Gly34Arg,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;	277	79	31	SUCCESS
SRP72	6731	.	GRCh37	4	57340266	57340277	+	inframe_deletion	In_Frame_Del	DEL	ATCTCGTCCGAA	ATCTCGTCCGAA	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	ATCTCGTCCGAA	ATCTCGTCCGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	115	0	ENST00000342756.5:c.402_413del	p.Leu135_Asn138del	p.L135_N138del	ENST00000342756	NM_006947.3	134	gATCTCGTCCGAAac/gac	0	.	.	.	.	.	-	DLVRN/D	protein_coding	YES	CCDS3506.1	401-412	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAGAGATCTCGTCCGAAACTCC	NONE	.	.	PROSITE_profiles:PS50005,hmmpanther:PTHR14094:SF9,hmmpanther:PTHR14094,Gene3D:1.25.40.10,PIRSF_domain:PIRSF038922,Superfamily_domains:SSF48452	.	.	ENSP00000342181	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000342756	Transcript	1	.	ENSG00000174780	11303	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRP72_HUMAN	SRP72	HGNC	Q86X80_HUMAN	.	UPI000013EEB0	deletion	SRP72,inframe_deletion,p.Leu135_Asn138del,ENST00000504757,;SRP72,inframe_deletion,p.Leu135_Asn138del,ENST00000510663,;SRP72,inframe_deletion,p.Leu135_Asn138del,ENST00000342756,;SRP72,upstream_gene_variant,,ENST00000505314,;	1122-1133	115	116	SUCCESS
AP3S1	1176	.	GRCh37	5	115249174	115249174	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	35	199	0	ENST00000316788.7:c.569C>A	p.Pro190His	p.P190H	ENST00000316788	NM_001284.2	190	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS4123.1	569	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCCTCTT	NONE	.	.	.	.	.	ENSP00000325369	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000316788	Transcript	.	.	ENSG00000177879	2013	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.365)	.	deleterious_low_confidence(0)	.	AP3S1_HUMAN	AP3S1	HGNC	.	.	UPI000002236E	SNV	AP3S1,missense_variant,p.Pro190His,ENST00000316788,;AP3S1,non_coding_transcript_exon_variant,,ENST00000505423,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;AP3S1,downstream_gene_variant,,ENST00000506430,;	1126	199	199	SUCCESS
IRF1	3659	.	GRCh37	5	131825125	131825125	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	35	97	0	ENST00000245414.4:c.46A>C	p.Ile16Leu	p.I16L	ENST00000245414	NM_002198.2	16	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4155.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAATCTGCA	NONE	.	.	Prints_domain:PR00267,Superfamily_domains:SSF46785,PIRSF_domain:PIRSF038196,SMART_domains:SM00348,Pfam_domain:PF00605,Gene3D:1.10.10.10,hmmpanther:PTHR11949:SF3,hmmpanther:PTHR11949,PROSITE_profiles:PS51507	.	.	ENSP00000245414	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000245414	Transcript	1	.	ENSG00000125347	6116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	IRF1_HUMAN	IRF1	HGNC	R4GNI0_HUMAN,Q75MZ8_HUMAN,Q6FHN8_HUMAN,C9JD95_HUMAN	.	UPI000012D885	SNV	IRF1,missense_variant,p.Ile16Leu,ENST00000405885,;IRF1,missense_variant,p.Ile16Leu,ENST00000245414,;IRF1,missense_variant,p.Ile16Leu,ENST00000458069,;IRF1,missense_variant,p.Ile16Leu,ENST00000437654,;IRF1,missense_variant,p.Ile16Leu,ENST00000476613,;IRF1,intron_variant,,ENST00000463784,;IRF1,missense_variant,p.Ile16Leu,ENST00000439555,;IRF1,non_coding_transcript_exon_variant,,ENST00000493208,;IRF1,non_coding_transcript_exon_variant,,ENST00000459982,;IRF1,upstream_gene_variant,,ENST00000472045,;	305	97	113	SUCCESS
ZCCHC10	54819	.	GRCh37	5	132334321	132334321	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	34	78	0	ENST00000509437.1:c.533A>G	p.Asp178Gly	p.D178G	ENST00000509437		178	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4165.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTATCTGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13491	.	.	ENSP00000324274	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000324170	Transcript	.	.	ENSG00000155329	25954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	ZCH10_HUMAN	ZCCHC10	HGNC	.	.	UPI0000073DBB	SNV	ZCCHC10,missense_variant,p.Asp142Gly,ENST00000513848,;ZCCHC10,missense_variant,p.Asp156Gly,ENST00000324170,;ZCCHC10,missense_variant,p.Asp172Gly,ENST00000355372,;ZCCHC10,missense_variant,p.Asp178Gly,ENST00000509437,;ZCCHC10,3_prime_UTR_variant,,ENST00000509008,;ZCCHC10,3_prime_UTR_variant,,ENST00000513541,;ZCCHC10,non_coding_transcript_exon_variant,,ENST00000506403,;ZCCHC10,non_coding_transcript_exon_variant,,ENST00000508080,;ZCCHC10,downstream_gene_variant,,ENST00000511440,;RP11-485M7.1,upstream_gene_variant,,ENST00000505029,;	534	78	96	SUCCESS
CLPTM1L	81037	.	GRCh37	5	1331943	1331943	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	40	103	1	ENST00000320895.5:c.947A>G	p.Lys316Arg	p.K316R	ENST00000320895	NM_030782.3	316	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3862.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTTCTTC	NONE	.	.	hmmpanther:PTHR21347:SF1,hmmpanther:PTHR21347,Pfam_domain:PF05602	.	.	ENSP00000313854	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000320895	Transcript	.	.	ENSG00000049656	24308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.22)	.	CLP1L_HUMAN	CLPTM1L	HGNC	B3KY18_HUMAN	.	UPI00000707DF	SNV	CLPTM1L,missense_variant,p.Lys316Arg,ENST00000320927,;CLPTM1L,missense_variant,p.Lys316Arg,ENST00000320895,;CLPTM1L,missense_variant,p.Lys183Arg,ENST00000507807,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000513250,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000508765,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503042,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503151,;CLPTM1L,downstream_gene_variant,,ENST00000511786,;	1205	105	165	SUCCESS
FBXO38	81545	.	GRCh37	5	147807217	147807217	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	73	0	ENST00000340253.5:c.2360G>A	p.Arg787Lys	p.R787K	ENST00000340253	NM_030793.4	787	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS43384.1	2360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGAACTA	NONE	.	.	hmmpanther:PTHR14753	.	.	ENSP00000377895	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000394370	Transcript	1	.	ENSG00000145868	28844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	tolerated(0.38)	.	FBX38_HUMAN	FBXO38	HGNC	.	.	UPI000034ECEB	SNV	FBXO38,missense_variant,p.Arg787Lys,ENST00000394370,;FBXO38,missense_variant,p.Arg787Lys,ENST00000340253,;FBXO38,intron_variant,,ENST00000513826,;FBXO38,intron_variant,,ENST00000296701,;CTD-2283N19.1,downstream_gene_variant,,ENST00000520980,;FBXO38,non_coding_transcript_exon_variant,,ENST00000505399,;FBXO38,downstream_gene_variant,,ENST00000514832,;	2461	73	85	SUCCESS
FAT2	2196	.	GRCh37	5	150908876	150908876	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	41	96	0	ENST00000261800.5:c.9889A>G	p.Ser3297Gly	p.S3297G	ENST00000261800	NM_001447.2	3297	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS4317.1	9889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTCTTCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	14/23	.	.	.	.	.	.	.	.	COSM1754139	14/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	.	1	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Ser3297Gly,ENST00000261800,;FAT2,missense_variant,p.Ser156Gly,ENST00000520200,;	9902	96	110	SUCCESS
FAM134B	0	.	GRCh37	5	16508838	16508838	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	34	0	ENST00000306320.9:c.459-25257T>G		p.*153*	ENST00000306320	NM_001034850.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43304.1	.	MUTECT|MUSE|VARSCANS	.	AAAAAACCCAG	NONE	.	.	.	.	.	ENSP00000304642	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306320	Transcript	1	.	ENSG00000154153	25964	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F134B_HUMAN	FAM134B	HGNC	.	.	UPI000006D7DB	SNV	FAM134B,5_prime_UTR_variant,,ENST00000399793,;FAM134B,intron_variant,,ENST00000306320,;FAM134B,intron_variant,,ENST00000509977,;FAM134B,upstream_gene_variant,,ENST00000506441,;	.	34	51	SUCCESS
MYO10	4651	.	GRCh37	5	16783454	16783454	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	51	0	ENST00000513610.1:c.592C>A	p.Leu198Ile	p.L198I	ENST00000513610	NM_012334.2	198	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS54834.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGAATAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	5/41	.	.	.	.	.	.	.	.	.	5/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Leu209Ile,ENST00000513882,;MYO10,missense_variant,p.Leu198Ile,ENST00000513610,;MYO10,missense_variant,p.Leu165Ile,ENST00000502436,;	1047	51	93	SUCCESS
FLT4	2324	.	GRCh37	5	180036905	180036905	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	101	0	ENST00000261937.6:c.3807G>T		p.X1269_splice	ENST00000261937	NM_182925.4	1269	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4457.1	3807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACCACAGA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49	.	.	ENSP00000261937	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,downstream_gene_variant,,ENST00000512795,;FLT4,splice_region_variant,,ENST00000502603,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,downstream_gene_variant,,ENST00000510000,;FLT4,downstream_gene_variant,,ENST00000514810,;	3886	101	111	SUCCESS
SLC9A3	6550	.	GRCh37	5	477525	477525	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371187218	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	34	100	0	ENST00000264938.3:c.1682C>A	p.Ser561Tyr	p.S561Y	ENST00000264938	NM_004174.2	561	tCc/tAc	0	T:0	.	.	.	.	T	S/Y	protein_coding	YES	CCDS3855.1	1682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGAGCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Prints_domain:PR01087	.	T:0.0001	ENSP00000264938	.	11/17	.	.	.	.	.	.	.	.	rs371187218	11/17	PASS	ENST00000264938	Transcript	.	.	ENSG00000066230	11073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.05)	.	SL9A3_HUMAN	SLC9A3	HGNC	.	.	UPI000013D597	SNV	SLC9A3,missense_variant,p.Ser552Tyr,ENST00000514375,;SLC9A3,missense_variant,p.Ser561Tyr,ENST00000264938,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.5,upstream_gene_variant,,ENST00000342584,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000607005,;CTD-2228K2.7,intron_variant,,ENST00000606288,;CTD-2228K2.7,intron_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606319,;CTD-2228K2.7,upstream_gene_variant,,ENST00000431004,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510714,;CTD-2228K2.5,upstream_gene_variant,,ENST00000502511,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000606074,;CTD-2228K2.7,intron_variant,,ENST00000606107,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;SLC9A3,downstream_gene_variant,,ENST00000507407,;	1692	100	159	SUCCESS
ITGA2	3673	.	GRCh37	5	52356813	52356813	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	65	171	0	ENST00000296585.5:c.1395A>T	p.Ile465=	p.I465=	ENST00000296585	NM_002203.3	465	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3957.1	1395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATAGTGCT	NONE	.	.	Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,PROSITE_profiles:PS51470	.	.	ENSP00000296585	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,synonymous_variant,p.%3D,ENST00000296585,;ITGA2,synonymous_variant,p.%3D,ENST00000510722,;ITGA2,synonymous_variant,p.%3D,ENST00000509960,;ITGA2,synonymous_variant,p.%3D,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;	1538	171	173	SUCCESS
IL31RA	133396	.	GRCh37	5	55206415	55206415	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	91	211	0	ENST00000447346.2:c.1557G>T	p.Lys519Asn	p.K519N	ENST00000447346	NM_001242636.1	519	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS3970.2	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAGACCTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000415900	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000447346	Transcript	1	.	ENSG00000164509	18969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.69)	.	IL31R_HUMAN	IL31RA	HGNC	.	.	UPI00001A41DC	SNV	IL31RA,missense_variant,p.Lys519Asn,ENST00000447346,;IL31RA,missense_variant,p.Lys377Asn,ENST00000490985,;IL31RA,missense_variant,p.Lys519Asn,ENST00000359040,;IL31RA,missense_variant,p.Lys500Asn,ENST00000354961,;IL31RA,missense_variant,p.Lys500Asn,ENST00000396834,;IL31RA,downstream_gene_variant,,ENST00000396836,;IL31RA,downstream_gene_variant,,ENST00000297015,;	1622	211	235	SUCCESS
SETD9	133383	.	GRCh37	5	56205565	56205565	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	109	0	ENST00000285947.2:c.93C>T	p.Asn31=	p.N31=	ENST00000285947	NM_153706.3	31	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS3972.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAACCCGAG	NONE	.	.	.	.	.	ENSP00000285947	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000285947	Transcript	.	.	ENSG00000155542	28508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD9_HUMAN	SETD9	HGNC	.	.	UPI000013DE19	SNV	SETD9,synonymous_variant,p.%3D,ENST00000541720,;SETD9,synonymous_variant,p.%3D,ENST00000285947,;SETD9,upstream_gene_variant,,ENST00000423328,;AC008937.3,intron_variant,,ENST00000453721,;SETD9,non_coding_transcript_exon_variant,,ENST00000498322,;SETD9,non_coding_transcript_exon_variant,,ENST00000480414,;SETD9,intron_variant,,ENST00000475908,;SETD9,upstream_gene_variant,,ENST00000477359,;SETD9,upstream_gene_variant,,ENST00000463805,;SETD9,upstream_gene_variant,,ENST00000472636,;SETD9,synonymous_variant,p.%3D,ENST00000418299,;	479	109	105	SUCCESS
VCAN	1462	.	GRCh37	5	82835029	82835029	+	synonymous_variant	Silent	SNP	G	G	A	rs563628544	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	62	0	ENST00000265077.3:c.6207G>A	p.Thr2069=	p.T2069=	ENST00000265077	NM_004385.4	2069	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4060.1	6207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACGAAAGC	NONE	byCluster	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	rs563628544	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,synonymous_variant,p.%3D,ENST00000265077,;VCAN,synonymous_variant,p.%3D,ENST00000343200,;VCAN,synonymous_variant,p.%3D,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	6772	62	82	SUCCESS
GPR98	0	.	GRCh37	5	89954088	89954088	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1225720048	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	66	141	0	ENST00000405460.2:c.4745T>C	p.Ile1582Thr	p.I1582T	ENST00000405460	NM_032119.3	1582	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47246.1	4745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTATACCAG	NONE	.	.	Superfamily_domains:SSF141072,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	21/90	.	.	.	.	.	.	.	.	COSM1717496	21/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.954)	.	.	1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ile1582Thr,ENST00000405460,;GPR98,downstream_gene_variant,,ENST00000504142,;	4841	141	155	SUCCESS
HEY2	23493	.	GRCh37	6	126080600	126080600	+	synonymous_variant	Silent	SNP	C	C	T	rs376521140	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	26	72	0	ENST00000368364.3:c.666C>T	p.His222=	p.H222=	ENST00000368364	NM_012259.2	222	caC/caT	0	T:0.0002	.	.	.	.	T	H	protein_coding	YES	CCDS5131.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGGCTC	NONE	byCluster	.	hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF79	.	T:0	ENSP00000357348	.	5/5	.	.	.	.	.	.	.	.	rs376521140,COSM237498	5/5	PASS	ENST00000368364	Transcript	.	.	ENSG00000135547	4881	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HEY2_HUMAN	HEY2	HGNC	Q5TF93_HUMAN,B4E1L3_HUMAN	.	UPI0000037AFE	SNV	HEY2,synonymous_variant,p.%3D,ENST00000368365,;HEY2,synonymous_variant,p.%3D,ENST00000368364,;	863	72	40	SUCCESS
MDC1	9656	.	GRCh37	6	30679231	30679231	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	76	165	0	ENST00000376406.3:c.2179C>T	p.Pro727Ser	p.P727S	ENST00000376406	NM_014641.2	727	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34384.1	2179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGTGGAG	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.06)	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,missense_variant,p.Pro727Ser,ENST00000376405,;MDC1,missense_variant,p.Pro52Ser,ENST00000417033,;MDC1,missense_variant,p.Pro727Ser,ENST00000376406,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,downstream_gene_variant,,ENST00000425072,;MDC1,downstream_gene_variant,,ENST00000416571,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000492462,;	2827	165	203	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33405455	33405455	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs538281267	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	52	0	ENST00000418600.2:c.773G>A	p.Arg258His	p.R258H	ENST00000418600	NM_006772.2	258	cGc/cAc	0	.	A:0	.	A:0.0014	.	A	R/H	protein_coding	YES	CCDS34434.2	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGCCGGG	NONE	by1000G	.	hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Gene3D:3bxjA01,Superfamily_domains:SSF50729	A:0	.	ENSP00000403636	A:0	8/19	.	.	.	.	.	.	.	.	rs538281267	8/19	PASS	ENST00000418600	Transcript	.	A:0.0002	ENSG00000197283	11497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	A:0	deleterious(0.03)	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,missense_variant,p.Arg199His,ENST00000428982,;SYNGAP1,missense_variant,p.Arg258His,ENST00000418600,;SYNGAP1,missense_variant,p.Arg258His,ENST00000293748,;SYNGAP1,missense_variant,p.Arg258His,ENST00000449372,;MIR5004,upstream_gene_variant,,ENST00000579078,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000495633,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000479510,;	874	52	52	SUCCESS
GIMAP8	155038	.	GRCh37	7	150171348	150171348	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	29	57	0	ENST00000307271.3:c.931A>G	p.Asn311Asp	p.N311D	ENST00000307271	NM_175571.2	311	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS34777.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGAACATT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF45,PROSITE_profiles:PS51720	.	.	ENSP00000305107	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307271	Transcript	.	.	ENSG00000171115	21792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	GIMA8_HUMAN	GIMAP8	HGNC	.	.	UPI0000168646	SNV	GIMAP8,missense_variant,p.Asn311Asp,ENST00000307271,;	1505	57	118	SUCCESS
ITGB8	3696	.	GRCh37	7	20438493	20438493	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	55	115	0	ENST00000222573.4:c.1157C>A	p.Ser386Ter	p.S386*	ENST00000222573	NM_002214.2	386	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS5370.1	1157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCAGAAG	NONE	.	.	hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300	.	.	ENSP00000222573	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000222573	Transcript	.	.	ENSG00000105855	6163	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITB8_HUMAN	ITGB8	HGNC	B4DHD4_HUMAN	.	UPI000012DA14	SNV	ITGB8,stop_gained,p.Ser386Ter,ENST00000222573,;ITGB8,stop_gained,p.Ser251Ter,ENST00000537992,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;	1841	115	147	SUCCESS
EVX1	2128	.	GRCh37	7	27285622	27285622	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs994524662	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	30	0	ENST00000496902.4:c.802G>C	p.Gly268Arg	p.G268R	ENST00000496902		268	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS5413.1	802	MUTECT|MUSE	.	CGGGCGGCCTG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF246	.	.	ENSP00000419266	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000496902	Transcript	.	.	ENSG00000106038	3506	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.229)	.	tolerated(0.1)	.	EVX1_HUMAN	EVX1	HGNC	B4DQJ0_HUMAN	.	UPI000012A2AD	SNV	EVX1,missense_variant,p.Gly268Arg,ENST00000496902,;EVX1,missense_variant,p.Gly86Arg,ENST00000535619,;EVX1,3_prime_UTR_variant,,ENST00000580535,;EVX1,3_prime_UTR_variant,,ENST00000222761,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1-AS,upstream_gene_variant,,ENST00000519218,;EVX1,upstream_gene_variant,,ENST00000518886,;	1288	30	10	SUCCESS
NPC1L1	29881	.	GRCh37	7	44555505	44555505	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	66	0	ENST00000289547.4:c.3774G>A	p.Lys1258=	p.K1258=	ENST00000289547	NM_013389.2	1258	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5491.1	3774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCTTGGC	NONE	.	.	Superfamily_domains:SSF82866,Gene3D:2j8sB01,Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,synonymous_variant,p.%3D,ENST00000546276,;NPC1L1,synonymous_variant,p.%3D,ENST00000381160,;NPC1L1,synonymous_variant,p.%3D,ENST00000289547,;AC004938.5,upstream_gene_variant,,ENST00000438468,;	3830	66	87	SUCCESS
PMS2	5395	.	GRCh37	7	6026652	6026652	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs63750739	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	37	70	0	ENST00000265849.7:c.1744G>C	p.Glu582Gln	p.E582Q	ENST00000265849	NM_000535.5	582	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5343.1	1744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCTTTTT	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9	.	.	ENSP00000265849	.	11/15	.	.	.	.	.	.	.	.	rs63750739,MMR_c.1744G>A	11/15	PASS	ENST00000265849	Transcript	.	.	ENSG00000122512	9122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious(0.04)	.	PMS2_HUMAN	PMS2	HGNC	.	.	UPI000013D696	SNV	PMS2,missense_variant,p.Glu582Gln,ENST00000265849,;PMS2,missense_variant,p.Glu476Gln,ENST00000441476,;PMS2,intron_variant,,ENST00000382321,;PMS2,intron_variant,,ENST00000406569,;PMS2,intron_variant,,ENST00000469652,;	1850	70	79	SUCCESS
INTS4L1	0	.	GRCh37	7	64639786	64639786	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs537203051	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	256	81	239	0	ENST00000297235.5:n.669C>T		p.*223*	ENST00000297235				0	.	T:0	.	T:0	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTACGTCTG	NONE	by1000G	.	.	T:0.001	.	.	T:0	5/15	.	.	.	.	.	.	.	.	rs537203051	5/15	PASS	ENST00000297235	Transcript	.	T:0.0002	ENSG00000164669	21925	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	INTS4L1	HGNC	.	.	.	SNV	INTS4L1,non_coding_transcript_exon_variant,,ENST00000587624,;INTS4L1,non_coding_transcript_exon_variant,,ENST00000297235,;INTS4L1,non_coding_transcript_exon_variant,,ENST00000438455,;	669	239	337	SUCCESS
TYW1	55253	.	GRCh37	7	66660199	66660199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	69	164	0	ENST00000359626.5:c.1852A>T	p.Met618Leu	p.M618L	ENST00000359626	NM_018264.3	618	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS5538.1	1852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCATGGCC	NONE	.	.	hmmpanther:PTHR13930:SF0,hmmpanther:PTHR13930,Gene3D:3.20.20.70,Pfam_domain:PF08608	.	.	ENSP00000352645	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000359626	Transcript	.	.	ENSG00000198874	25598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0.03)	.	TYW1_HUMAN	TYW1	HGNC	B4DW16_HUMAN	.	UPI00003674A9	SNV	TYW1,missense_variant,p.Met618Leu,ENST00000359626,;TYW1,3_prime_UTR_variant,,ENST00000361660,;TYW1,non_coding_transcript_exon_variant,,ENST00000495971,;	2016	164	204	SUCCESS
SEMA3A	10371	.	GRCh37	7	83590840	83590840	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	409	99	219	0	ENST00000265362.4:c.2163C>A	p.Phe721Leu	p.F721L	ENST00000265362	NM_006080.2	721	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS5599.1	2163	RADIA|MUTECT|MUSE	.	TCACAGAACTC	NONE	.	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036	.	.	ENSP00000265362	.	17/17	.	.	.	.	.	.	.	.	COSM121813	17/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.022)	.	tolerated(0.1)	1	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Phe721Leu,ENST00000265362,;SEMA3A,missense_variant,p.Phe721Leu,ENST00000436949,;	2478	219	508	SUCCESS
SAMD12	401474	.	GRCh37	8	119452108	119452108	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs761510466	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	63	151	0	ENST00000314727.4:c.285G>C	p.Gln95His	p.Q95H	ENST00000314727	NM_207506.2	95	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS6325.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATCTGATA	NONE	.	.	Superfamily_domains:SSF47769,SMART_domains:SM00454,Pfam_domain:PF07647,Gene3D:1.10.150.50,hmmpanther:PTHR20843:SF2,hmmpanther:PTHR20843,PROSITE_profiles:PS50105	.	.	ENSP00000314173	.	3/4	.	.	.	.	.	.	.	.	rs761510466	3/4	PASS	ENST00000314727	Transcript	.	.	ENSG00000177570	31750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.15)	.	SAM12_HUMAN	SAMD12	HGNC	E9PLP5_HUMAN	.	UPI000013F8F1	SNV	SAMD12,missense_variant,p.Gln95His,ENST00000314727,;SAMD12,missense_variant,p.Gln92His,ENST00000453675,;SAMD12,missense_variant,p.Gln87His,ENST00000524796,;SAMD12,missense_variant,p.Gln95His,ENST00000409003,;SAMD12,missense_variant,p.Gln110His,ENST00000526765,;SAMD12,missense_variant,p.Gln95His,ENST00000526328,;SAMD12,intron_variant,,ENST00000445741,;	422	151	155	SUCCESS
ZHX2	22882	.	GRCh37	8	123964092	123964092	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	39	0	ENST00000314393.4:c.342A>T	p.Glu114Asp	p.E114D	ENST00000314393	NM_014943.3	114	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6336.1	342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAATGTAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5,Pfam_domain:PF13909,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000314709	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314393	Transcript	.	.	ENSG00000178764	18513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	tolerated(0.3)	.	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,missense_variant,p.Glu114Asp,ENST00000314393,;ZHX2,missense_variant,p.Glu114Asp,ENST00000534247,;	1177	39	67	SUCCESS
ZFAT	57623	.	GRCh37	8	135545117	135545124	+	frameshift_variant	Frame_Shift_Del	DEL	CACGTTGG	CACGTTGG	-	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	CACGTTGG	CACGTTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	56	0	ENST00000377838.3:c.3068_3075del	p.Ala1023GlyfsTer33	p.A1023Gfs*33	ENST00000377838	NM_020863.3	1023	gCCAACGTG/g	0	.	.	.	.	.	-	ANV/X	protein_coding	YES	CCDS47924.1	3068-3075	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGCCCACGTTGGCATAC	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0	.	.	ENSP00000367069	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000377838	Transcript	.	.	ENSG00000066827	19899	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFAT_HUMAN	ZFAT	HGNC	.	.	UPI0000210061	deletion	ZFAT,frameshift_variant,p.Ala1011GlyfsTer33,ENST00000429442,;ZFAT,frameshift_variant,p.Ala1011GlyfsTer33,ENST00000520214,;ZFAT,frameshift_variant,p.Ala1023GlyfsTer33,ENST00000377838,;ZFAT,frameshift_variant,p.Ala961GlyfsTer33,ENST00000523399,;ZFAT,frameshift_variant,p.Ala1011GlyfsTer33,ENST00000520727,;ZFAT,frameshift_variant,p.Ala1011GlyfsTer33,ENST00000520356,;ZFAT,non_coding_transcript_exon_variant,,ENST00000517307,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,3_prime_UTR_variant,,ENST00000523243,;ZFAT,non_coding_transcript_exon_variant,,ENST00000518408,;	3243-3250	56	57	SUCCESS
TONSL	4796	.	GRCh37	8	145659589	145659589	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	109	0	ENST00000409379.3:c.3159C>T	p.Ala1053=	p.A1053=	ENST00000409379	NM_013432.4	1053	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34968.2	3159	MUTECT|MUSE|VARSCANS	.	TCCAGGGCCAG	NONE	.	.	hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000386239	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000409379	Transcript	.	.	ENSG00000160949	7801	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TONSL_HUMAN	TONSL	HGNC	.	.	UPI0000424A3B	SNV	TONSL,synonymous_variant,p.%3D,ENST00000409379,;AC084125.4,upstream_gene_variant,,ENST00000544423,;AC084125.4,upstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	3189	109	81	SUCCESS
VPS37A	137492	.	GRCh37	8	17132309	17132309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	58	154	0	ENST00000324849.4:c.484C>A	p.Pro162Thr	p.P162T	ENST00000324849	NM_001145152.1	162	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS6001.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATCCTCCA	NONE	.	.	hmmpanther:PTHR13678,hmmpanther:PTHR13678:SF2	.	.	ENSP00000318629	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000324849	Transcript	1	.	ENSG00000155975	24928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.04)	.	VP37A_HUMAN	VPS37A	HGNC	H0YBN0_HUMAN,B3KW95_HUMAN	.	UPI0000039EC3	SNV	VPS37A,missense_variant,p.Pro162Thr,ENST00000324849,;VPS37A,missense_variant,p.Pro137Thr,ENST00000521829,;VPS37A,missense_variant,p.Ser171Tyr,ENST00000324815,;VPS37A,upstream_gene_variant,,ENST00000521976,;VPS37A,missense_variant,p.Ser171Tyr,ENST00000425020,;VPS37A,missense_variant,p.Pro162Thr,ENST00000520140,;	1158	154	105	SUCCESS
EXTL3	2137	.	GRCh37	8	28575571	28575571	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	87	205	0	ENST00000220562.4:c.1995G>T	p.Val665=	p.V665=	ENST00000220562	NM_001440.3	665	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6070.1	1995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTGGTGAT	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF09258,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57	.	.	ENSP00000220562	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000220562	Transcript	.	.	ENSG00000012232	3518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXTL3_HUMAN	EXTL3	HGNC	E5RIV6_HUMAN,B4DG91_HUMAN	.	UPI000012A35D	SNV	EXTL3,synonymous_variant,p.%3D,ENST00000523149,;EXTL3,synonymous_variant,p.%3D,ENST00000220562,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,intron_variant,,ENST00000522698,;	2897	206	152	SUCCESS
AP3M2	10947	.	GRCh37	8	42022975	42022975	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	119	218	0	ENST00000174653.3:c.700C>T	p.His234Tyr	p.H234Y	ENST00000174653	NM_006803.3	234	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS6125.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCATCCT	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF20,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852,Prints_domain:PR00314	.	.	ENSP00000428787	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000518421	Transcript	.	.	ENSG00000070718	570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP3M2_HUMAN	AP3M2	HGNC	H0YBM0_HUMAN,E5RJ52_HUMAN,E5RI83_HUMAN	.	UPI0000125033	SNV	AP3M2,missense_variant,p.His234Tyr,ENST00000518421,;AP3M2,missense_variant,p.His234Tyr,ENST00000396926,;AP3M2,missense_variant,p.His234Tyr,ENST00000174653,;AP3M2,missense_variant,p.His97Tyr,ENST00000517499,;AP3M2,missense_variant,p.His119Tyr,ENST00000521280,;AP3M2,missense_variant,p.His234Tyr,ENST00000517922,;AP3M2,upstream_gene_variant,,ENST00000522606,;AP3M2,intron_variant,,ENST00000520685,;AP3M2,missense_variant,p.His234Tyr,ENST00000530375,;AP3M2,3_prime_UTR_variant,,ENST00000517865,;AP3M2,non_coding_transcript_exon_variant,,ENST00000521899,;AP3M2,upstream_gene_variant,,ENST00000522320,;AP3M2,downstream_gene_variant,,ENST00000523249,;AP3M2,upstream_gene_variant,,ENST00000520689,;	991	218	286	SUCCESS
FNTA	2339	.	GRCh37	8	42939883	42939883	+	synonymous_variant	Silent	SNP	T	T	C	rs774088506	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	79	0	ENST00000302279.3:c.876T>C	p.Tyr292=	p.Y292=	ENST00000302279	NM_002027.2	292	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS6140.1	876	MUTECT|MUSE	.	AAATATCCTAA	NONE	.	.	hmmpanther:PTHR11129:SF1,hmmpanther:PTHR11129,Gene3D:1.25.40.120,Superfamily_domains:SSF48439	.	.	ENSP00000303423	.	8/9	.	.	.	.	.	.	.	.	rs774088506	8/9	PASS	ENST00000302279	Transcript	.	.	ENSG00000168522	3782	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FNTA_HUMAN	FNTA	HGNC	E9PPM9_HUMAN,D3DSY9_HUMAN,B3KVN2_HUMAN	.	UPI000013176D	SNV	FNTA,synonymous_variant,p.%3D,ENST00000533336,;FNTA,synonymous_variant,p.%3D,ENST00000302279,;FNTA,synonymous_variant,p.%3D,ENST00000342116,;FNTA,synonymous_variant,p.%3D,ENST00000529687,;FNTA,3_prime_UTR_variant,,ENST00000526755,;FNTA,3_prime_UTR_variant,,ENST00000533383,;FNTA,3_prime_UTR_variant,,ENST00000533998,;FNTA,non_coding_transcript_exon_variant,,ENST00000525099,;FNTA,non_coding_transcript_exon_variant,,ENST00000528400,;	1070	79	90	SUCCESS
ZFHX4	79776	.	GRCh37	8	77616371	77616371	+	synonymous_variant	Silent	SNP	G	G	A	rs1247297483	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	51	114	0	ENST00000521891.2:c.48G>A	p.Gln16=	p.Q16=	ENST00000521891	NM_024721.4	16	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS47878.2	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGAGCAC	NONE	.	.	.	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	COSM376929	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000517585,;ZFHX4,synonymous_variant,p.%3D,ENST00000520307,;ZFHX4,synonymous_variant,p.%3D,ENST00000523885,;ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;ZFHX4,synonymous_variant,p.%3D,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	496	114	122	SUCCESS
COL27A1	85301	.	GRCh37	9	117015214	117015214	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	116	0	ENST00000356083.3:c.3141+2T>A		p.X1047_splice	ENST00000356083	NM_032888.2	1047		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6802.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTAAGCA	NONE	.	.	.	.	.	ENSP00000348385	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356083	Transcript	.	.	ENSG00000196739	22986	.	.	HIGH	27/60	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CORA1_HUMAN	COL27A1	HGNC	.	.	UPI0000062271	SNV	COL27A1,splice_donor_variant,,ENST00000356083,;COL27A1,splice_donor_variant,,ENST00000494090,;	.	116	144	SUCCESS
C9orf173	0	.	GRCh37	9	140147365	140147365	+	synonymous_variant	Silent	SNP	G	G	A	rs747539546	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	57	0	ENST00000388931.3:c.744G>A	p.Ser248=	p.S248=	ENST00000388931	NM_001004353.3	248	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS59156.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGCCGGC	NONE	byFrequency	.	.	.	.	ENSP00000373583	.	5/6	.	.	.	.	.	.	.	.	rs747539546	5/6	PASS	ENST00000388931	Transcript	.	.	ENSG00000197768	37285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI173_HUMAN	C9orf173	HGNC	.	.	UPI0000F095C7	SNV	C9orf173,synonymous_variant,p.%3D,ENST00000412566,;C9orf173,synonymous_variant,p.%3D,ENST00000388931,;NELFB,upstream_gene_variant,,ENST00000343053,;	770	57	59	SUCCESS
PLIN2	123	.	GRCh37	9	19116605	19116605	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1339551820	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	85	181	0	ENST00000276914.2:c.955C>G	p.Gln319Glu	p.Q319E	ENST00000276914	NM_001122.3	319	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS6490.1	955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGAGTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14024,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881,Superfamily_domains:0043810	.	.	ENSP00000276914	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000276914	Transcript	.	.	ENSG00000147872	248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	deleterious(0.01)	.	PLIN2_HUMAN	PLIN2	HGNC	Q6FHZ7_HUMAN,Q5SYF5_HUMAN,B4DJK9_HUMAN	.	UPI0000125535	SNV	PLIN2,missense_variant,p.Gln319Glu,ENST00000276914,;PLIN2,missense_variant,p.Gln238Glu,ENST00000411567,;PLIN2,downstream_gene_variant,,ENST00000434144,;PLIN2,non_coding_transcript_exon_variant,,ENST00000464326,;	1135	181	191	SUCCESS
MLLT3	4300	.	GRCh37	9	20414041	20414041	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1031452176	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	158	394	0	ENST00000380338.4:c.803A>G	p.Asn268Ser	p.N268S	ENST00000380338	NM_004529.2	268	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6494.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGTTACTA	NONE	.	.	hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF25	.	.	ENSP00000369695	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000380338	Transcript	.	.	ENSG00000171843	7136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.84)	.	AF9_HUMAN	MLLT3	HGNC	Q6LEQ8_HUMAN,B1APT5_HUMAN	.	UPI00002111CB	SNV	MLLT3,missense_variant,p.Asn265Ser,ENST00000429426,;MLLT3,missense_variant,p.Asn268Ser,ENST00000380338,;MLLT3,5_prime_UTR_variant,,ENST00000355930,;MIR4473,upstream_gene_variant,,ENST00000583731,;RNU4-26P,upstream_gene_variant,,ENST00000410270,;MLLT3,non_coding_transcript_exon_variant,,ENST00000475957,;MLLT3,upstream_gene_variant,,ENST00000468513,;	1090	395	405	SUCCESS
IFNA6	3443	.	GRCh37	9	21350645	21350645	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	102	183	0	ENST00000380210.1:c.242A>C	p.His81Pro	p.H81P	ENST00000380210	NM_021002.2	81	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS6504.1	242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATGGAGG	NONE	.	.	hmmpanther:PTHR11691:SF27,hmmpanther:PTHR11691,Pfam_domain:PF00143,Gene3D:1.20.1250.10,SMART_domains:SM00076,Superfamily_domains:SSF47266,Prints_domain:PR00266	.	.	ENSP00000369558	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380210	Transcript	.	.	ENSG00000120235	5427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	IFNA6_HUMAN	IFNA6	HGNC	.	.	UPI000004775F	SNV	IFNA6,missense_variant,p.His81Pro,ENST00000380210,;	733	183	224	SUCCESS
FGFR2	2263	.	GRCh37	10	123325033	123325033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	43	69	0	ENST00000358487.5:c.295C>T	p.Pro99Ser	p.P99S	ENST00000358487	NM_000141.4	99	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7620.2	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGGCGTGG	BUFFER|p.D101Y|c.301G>T|3,BUFFER|p.D101Y|c.301G>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF130,hmmpanther:PTHR24416,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF48726	.	.	ENSP00000410294	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.39)	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	SNV	FGFR2,missense_variant,p.Pro99Ser,ENST00000351936,;FGFR2,missense_variant,p.Pro99Ser,ENST00000346997,;FGFR2,missense_variant,p.Pro99Ser,ENST00000369061,;FGFR2,missense_variant,p.Pro99Ser,ENST00000358487,;FGFR2,missense_variant,p.Pro99Ser,ENST00000359354,;FGFR2,missense_variant,p.Pro99Ser,ENST00000369058,;FGFR2,missense_variant,p.Pro99Ser,ENST00000369060,;FGFR2,missense_variant,p.Pro99Ser,ENST00000369056,;FGFR2,missense_variant,p.Pro99Ser,ENST00000457416,;FGFR2,intron_variant,,ENST00000336553,;FGFR2,intron_variant,,ENST00000360144,;FGFR2,intron_variant,,ENST00000369059,;FGFR2,intron_variant,,ENST00000356226,;FGFR2,intron_variant,,ENST00000357555,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,non_coding_transcript_exon_variant,,ENST00000491475,;FGFR2,intron_variant,,ENST00000604236,;	887	69	75	SUCCESS
TACC2	10579	.	GRCh37	10	123843951	123843951	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754824553	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	30	0	ENST00000334433.3:c.1936G>T	p.Gly646Trp	p.G646W	ENST00000334433		646	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS7626.1	1936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACGGGCCC	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	rs754824553	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Gly646Trp,ENST00000369005,;TACC2,missense_variant,p.Gly646Trp,ENST00000453444,;TACC2,missense_variant,p.Gly646Trp,ENST00000334433,;TACC2,missense_variant,p.Gly646Trp,ENST00000515603,;TACC2,missense_variant,p.Gly646Trp,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	2276	30	28	SUCCESS
ADAM8	101	.	GRCh37	10	135084292	135084292	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	61	1	ENST00000445355.3:c.1582G>A	p.Glu528Lys	p.E528K	ENST00000445355	NM_001109.4	528	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31319.2	1582	RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCCTCGG	NONE	.	.	hmmpanther:PTHR11905:SF20,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000453302	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000445355	Transcript	.	.	ENSG00000151651	215	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.23)	.	deleterious(0.02)	.	ADAM8_HUMAN	ADAM8	HGNC	.	.	UPI0001AE6E16	SNV	ADAM8,missense_variant,p.Glu489Lys,ENST00000485491,;ADAM8,missense_variant,p.Glu528Lys,ENST00000415217,;ADAM8,missense_variant,p.Glu528Lys,ENST00000445355,;ADAM8,downstream_gene_variant,,ENST00000486609,;ADAM8,downstream_gene_variant,,ENST00000559180,;ADAM8,non_coding_transcript_exon_variant,,ENST00000468964,;ADAM8,downstream_gene_variant,,ENST00000537099,;ADAM8,downstream_gene_variant,,ENST00000561175,;ADAM8,downstream_gene_variant,,ENST00000560135,;ADAM8,downstream_gene_variant,,ENST00000463298,;	1633	62	72	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37506693	37506693	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	45	266	0	ENST00000361713.1:c.2986T>C	p.Leu996=	p.L996=	ENST00000361713	NM_052997.2	996	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS7193.1	2986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAATTAGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000354432	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,synonymous_variant,p.%3D,ENST00000374660,;ANKRD30A,synonymous_variant,p.%3D,ENST00000361713,;ANKRD30A,synonymous_variant,p.%3D,ENST00000602533,;	3085	266	209	SUCCESS
HERC4	26091	.	GRCh37	10	69797855	69797855	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	25	150	0	ENST00000395198.3:c.458C>G	p.Ser153Cys	p.S153C	ENST00000395198	NM_022079.2	153	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS41533.1	458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAGAAAGT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF290,Gene3D:2.130.10.30,Superfamily_domains:SSF50985,Prints_domain:PR00633	.	.	ENSP00000378624	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000395198	Transcript	.	.	ENSG00000148634	24521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0)	.	HERC4_HUMAN	HERC4	HGNC	D6RFK9_HUMAN	.	UPI00004C6F56	SNV	HERC4,missense_variant,p.Ser153Cys,ENST00000373700,;HERC4,missense_variant,p.Ser177Cys,ENST00000513996,;HERC4,missense_variant,p.Ser43Cys,ENST00000277817,;HERC4,missense_variant,p.Ser153Cys,ENST00000412272,;HERC4,missense_variant,p.Leu100Val,ENST00000395187,;HERC4,missense_variant,p.Ser153Cys,ENST00000395198,;HERC4,missense_variant,p.Leu100Val,ENST00000473533,;HERC4,missense_variant,p.Ser150Cys,ENST00000427635,;HERC4,non_coding_transcript_exon_variant,,ENST00000463478,;	706	150	119	SUCCESS
C10orf12	0	.	GRCh37	10	98741247	98741247	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1345080723	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	120	0	ENST00000286067.2:c.100T>C	p.Phe34Leu	p.F34L	ENST00000286067	NM_015652.2	34	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS7452.1	100	MUTECT|MUSE	.	ATTTGTTCAAA	NONE	.	.	hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2	.	.	ENSP00000286067	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286067	Transcript	.	.	ENSG00000155640	23420	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.22)	.	CJ012_HUMAN	C10orf12	HGNC	.	.	UPI000006F242	SNV	C10orf12,missense_variant,p.Phe34Leu,ENST00000286067,;LCOR,downstream_gene_variant,,ENST00000498444,;	207	120	75	SUCCESS
MUC5B	727897	.	GRCh37	11	1277989	1277989	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs915602595	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	15	0	ENST00000529681.1:c.16225G>A	p.Val5409Met	p.V5409M	ENST00000529681	NM_002458.2	5409	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS44515.2	16225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCGTGCAG	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Gene3D:2.10.25.10,Superfamily_domains:SSF57567	.	.	ENSP00000436812	.	39/49	.	.	.	.	.	.	.	.	.	39/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Val5409Met,ENST00000529681,;MUC5B,missense_variant,p.Val5412Met,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000526859,;MUC5B,upstream_gene_variant,,ENST00000527802,;	16283	15	29	SUCCESS
SAAL1	113174	.	GRCh37	11	18127543	18127543	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	16	0	ENST00000524803.1:c.46G>C	p.Glu16Gln	p.E16Q	ENST00000524803		16	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS31439.1	46	MUTECT|MUSE	.	CTCCTCCTCCT	NONE	.	.	hmmpanther:PTHR23424:SF4,hmmpanther:PTHR23424	.	.	ENSP00000432487	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000524803	Transcript	.	.	ENSG00000166788	25158	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.068)	.	tolerated(0.26)	.	SAAL1_HUMAN	SAAL1	HGNC	G1UCX3_HUMAN	.	UPI00001F9E3B	SNV	SAAL1,missense_variant,p.Glu16Gln,ENST00000529318,;SAAL1,missense_variant,p.Glu9Gln,ENST00000532452,;SAAL1,missense_variant,p.Glu16Gln,ENST00000300013,;SAAL1,missense_variant,p.Glu16Gln,ENST00000530180,;SAAL1,missense_variant,p.Glu16Gln,ENST00000524803,;SAAL1,non_coding_transcript_exon_variant,,ENST00000530736,;SAAL1,non_coding_transcript_exon_variant,,ENST00000533851,;SAAL1,missense_variant,p.Glu16Gln,ENST00000531581,;HIGD1AP5,upstream_gene_variant,,ENST00000529959,;	96	16	15	SUCCESS
HPS5	11234	.	GRCh37	11	18333521	18333521	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	56	0	ENST00000349215.3:c.159A>G	p.Gly53=	p.G53=	ENST00000349215	NM_181507.1	53	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS7836.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23287:SF15,hmmpanther:PTHR23287,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037475,Superfamily_domains:SSF50978	.	.	ENSP00000265967	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000349215	Transcript	.	.	ENSG00000110756	17022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPS5_HUMAN	HPS5	HGNC	F5GWM5_HUMAN	.	UPI000000D7E9	SNV	HPS5,synonymous_variant,p.%3D,ENST00000349215,;HPS5,5_prime_UTR_variant,,ENST00000531848,;HPS5,5_prime_UTR_variant,,ENST00000438420,;HPS5,5_prime_UTR_variant,,ENST00000396253,;HPS5,non_coding_transcript_exon_variant,,ENST00000589545,;HPS5,non_coding_transcript_exon_variant,,ENST00000399287,;	437	56	55	SUCCESS
SLC17A6	57084	.	GRCh37	11	22399124	22399124	+	synonymous_variant	Silent	SNP	G	G	T	rs770305192	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	141	1	ENST00000263160.3:c.1587G>T	p.Gly529=	p.G529=	ENST00000263160	NM_020346.2	529	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7856.1	1587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGGACAT	NONE	byFrequency	.	hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662	.	.	ENSP00000263160	.	12/12	.	.	.	.	.	.	.	.	rs770305192	12/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,synonymous_variant,p.%3D,ENST00000263160,;	2024	142	126	SUCCESS
STIM1	6786	.	GRCh37	11	4076832	4076832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	104	0	ENST00000300737.4:c.462C>A	p.Phe154Leu	p.F154L	ENST00000300737	NM_003156.3	154	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS7749.1	462	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCCGGAA	NONE	.	.	Superfamily_domains:SSF47769,SMART_domains:SM00454,Pfam_domain:PF07647,Gene3D:1.10.150.50,hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF9,PROSITE_profiles:PS50105	.	.	ENSP00000300737	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000300737	Transcript	.	.	ENSG00000167323	11386	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.488)	.	deleterious(0.01)	.	STIM1_HUMAN	STIM1	HGNC	E9PRZ7_HUMAN,E9PRE4_HUMAN,E9PR09_HUMAN,E9PR07_HUMAN,E9PNJ4_HUMAN,E9PMB4_HUMAN,E9PJ19_HUMAN,E9PIQ8_HUMAN	.	UPI00000724B7	SNV	STIM1,missense_variant,p.Phe80Leu,ENST00000530554,;STIM1,missense_variant,p.Phe80Leu,ENST00000528656,;STIM1,missense_variant,p.Phe80Leu,ENST00000532919,;STIM1,missense_variant,p.Phe80Leu,ENST00000525055,;STIM1,missense_variant,p.Phe154Leu,ENST00000527651,;STIM1,missense_variant,p.Phe80Leu,ENST00000525403,;STIM1,missense_variant,p.Phe80Leu,ENST00000532610,;STIM1,missense_variant,p.Phe154Leu,ENST00000300737,;STIM1,upstream_gene_variant,,ENST00000533977,;STIM1,downstream_gene_variant,,ENST00000532990,;STIM1,non_coding_transcript_exon_variant,,ENST00000527484,;STIM1,non_coding_transcript_exon_variant,,ENST00000533445,;STIM1,non_coding_transcript_exon_variant,,ENST00000526771,;	1031	104	114	SUCCESS
HNRNPKP3	399881	.	GRCh37	11	43283803	43283803	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	11	0	ENST00000511537.1:n.1133C>G		p.*378*	ENST00000511537				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGATTTG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000511537	Transcript	.	.	ENSG00000251557	42376	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HNRNPKP3	HGNC	.	.	.	SNV	HNRNPKP3,non_coding_transcript_exon_variant,,ENST00000511537,;HNRNPKP3,intron_variant,,ENST00000533565,;HNRNPKP3,non_coding_transcript_exon_variant,,ENST00000534639,;	1133	11	21	SUCCESS
SLC35C1	55343	.	GRCh37	11	45832329	45832329	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	28	0	ENST00000314134.3:c.538G>A	p.Gly180Ser	p.G180S	ENST00000314134	NM_018389.4	180	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS7914.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGGCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11132:SF36,hmmpanther:PTHR11132,Pfam_domain:PF00892	.	.	ENSP00000313318	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314134	Transcript	.	.	ENSG00000181830	20197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FUCT1_HUMAN	SLC35C1	HGNC	Q96K20_HUMAN,E9PS26_HUMAN,E9PPI4_HUMAN,B3KQH0_HUMAN	.	UPI000012A5BB	SNV	SLC35C1,missense_variant,p.Gly167Ser,ENST00000442528,;SLC35C1,missense_variant,p.Gly167Ser,ENST00000456334,;SLC35C1,missense_variant,p.Gly180Ser,ENST00000314134,;SLC35C1,downstream_gene_variant,,ENST00000530471,;SLC35C1,downstream_gene_variant,,ENST00000526817,;CTD-2210P24.6,upstream_gene_variant,,ENST00000534128,;	1934	28	52	SUCCESS
OR51T1	401665	.	GRCh37	11	4904015	4904015	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	7	126	0	ENST00000322049.1:c.886T>C	p.Leu296=	p.L296=	ENST00000322049		296	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31363.1	967	MUTECT|MUSE	.	ACAGCTTGAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000369738	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380378	Transcript	.	.	ENSG00000176900	15205	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O51T1_HUMAN	OR51T1	HGNC	.	.	UPI000015F1FF	SNV	OR51T1,synonymous_variant,p.%3D,ENST00000380378,;OR51T1,synonymous_variant,p.%3D,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	967	126	137	SUCCESS
APBB1	322	.	GRCh37	11	6422643	6422643	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs142613637	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	47	0	ENST00000609360.1:c.1520G>C	p.Arg507Pro	p.R507P	ENST00000609360	NM_001164.3	507	cGt/cCt	0	G:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS31410.1	1514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTACGCCGT	NONE	byCluster	.	SMART_domains:SM00462,Pfam_domain:PF00640,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF5,PROSITE_profiles:PS01179	.	G:0.0001	ENSP00000299402	.	10/14	.	.	.	.	.	.	.	.	rs142613637	10/14	PASS	ENST00000299402	Transcript	.	.	ENSG00000166313	581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	APBB1_HUMAN	APBB1	HGNC	.	.	UPI0000070BF7	SNV	APBB1,missense_variant,p.Arg248Pro,ENST00000608704,;APBB1,missense_variant,p.Arg248Pro,ENST00000608394,;APBB1,missense_variant,p.Arg285Pro,ENST00000530885,;APBB1,missense_variant,p.Arg505Pro,ENST00000299402,;APBB1,missense_variant,p.Arg507Pro,ENST00000609360,;APBB1,missense_variant,p.Arg246Pro,ENST00000529890,;APBB1,missense_variant,p.Arg507Pro,ENST00000389906,;APBB1,missense_variant,p.Arg248Pro,ENST00000608645,;APBB1,missense_variant,p.Arg272Pro,ENST00000609331,;APBB1,missense_variant,p.Arg505Pro,ENST00000311051,;APBB1,missense_variant,p.Arg287Pro,ENST00000608655,;APBB1,missense_variant,p.Arg32Pro,ENST00000529519,;APBB1,downstream_gene_variant,,ENST00000532020,;APBB1,upstream_gene_variant,,ENST00000526240,;APBB1,missense_variant,p.Arg507Pro,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000533139,;APBB1,non_coding_transcript_exon_variant,,ENST00000533407,;APBB1,non_coding_transcript_exon_variant,,ENST00000529778,;APBB1,non_coding_transcript_exon_variant,,ENST00000524626,;APBB1,non_coding_transcript_exon_variant,,ENST00000526925,;APBB1,downstream_gene_variant,,ENST00000534188,;	1614	47	34	SUCCESS
SUV420H1	0	.	GRCh37	11	67925241	67925241	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	97	134	0	ENST00000304363.4:c.2572T>G	p.Leu858Val	p.L858V	ENST00000304363	NM_017635.3	858	Ttg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS31623.1	2572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAAGCGCT	NONE	.	.	hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10	.	.	ENSP00000305899	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000304363	Transcript	.	.	ENSG00000110066	24283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SV421_HUMAN	SUV420H1	HGNC	E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN	.	UPI00001FADE7	SNV	SUV420H1,missense_variant,p.Leu858Val,ENST00000304363,;SUV420H1,3_prime_UTR_variant,,ENST00000441488,;SUV420H1,downstream_gene_variant,,ENST00000427752,;	2926	134	173	SUCCESS
OR2D3	120775	.	GRCh37	11	6942827	6942827	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	128	242	0	ENST00000317834.3:c.595G>T	p.Ala199Ser	p.A199S	ENST00000317834	NM_001004684.1	199	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31417.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGCCCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF136,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000320560	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317834	Transcript	.	.	ENSG00000178358	15146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.383)	.	deleterious(0.04)	.	OR2D3_HUMAN	OR2D3	HGNC	.	.	UPI0000041C7D	SNV	OR2D3,missense_variant,p.Ala199Ser,ENST00000317834,;ZNF215,upstream_gene_variant,,ENST00000414517,;ZNF215,upstream_gene_variant,,ENST00000278319,;ZNF215,upstream_gene_variant,,ENST00000529755,;ZNF215,upstream_gene_variant,,ENST00000527171,;	623	242	251	SUCCESS
UTP20	27340	.	GRCh37	12	101736252	101736253	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AC	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	91	39	75	0	ENST00000261637.4:c.4132_4133dup	p.Gln1378HisfsTer5	p.Q1378Hfs*5	ENST00000261637	NM_014503.2	1377	gta/gtACa	0	.	.	.	.	.	AC	V/VX	protein_coding	YES	CCDS9081.1	4130-4131	INDELOCATOR*|VARSCANI*|PINDEL	.	GACAGTACAAA	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	33/62	.	.	.	.	.	.	.	.	.	33/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	insertion	UTP20,frameshift_variant,p.Gln1378HisfsTer5,ENST00000261637,;	4304-4305	75	130	SUCCESS
PIWIL1	9271	.	GRCh37	12	130827612	130827612	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	34	156	0	ENST00000245255.3:c.156G>C	p.Gln52His	p.Q52H	ENST00000245255	NM_004764.4	52	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS9268.1	156	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAGAGAGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF05831,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31	.	.	ENSP00000245255	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000245255	Transcript	.	.	ENSG00000125207	9007	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.796)	.	tolerated(0.07)	.	PIWL1_HUMAN	PIWIL1	HGNC	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN	.	UPI000007059F	SNV	PIWIL1,missense_variant,p.Gln52His,ENST00000546060,;PIWIL1,missense_variant,p.Gln52His,ENST00000542723,;PIWIL1,missense_variant,p.Gln52His,ENST00000539995,;PIWIL1,missense_variant,p.Gln52His,ENST00000539400,;PIWIL1,missense_variant,p.Gln52His,ENST00000245255,;PIWIL1,missense_variant,p.Gln52His,ENST00000535956,;PIWIL1,upstream_gene_variant,,ENST00000540672,;	428	156	206	SUCCESS
CMAS	55907	.	GRCh37	12	22199469	22199479	+	frameshift_variant	Frame_Shift_Del	DEL	GCGGCCCTGGA	GCGGCCCTGGA	-	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	GCGGCCCTGGA	GCGGCCCTGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	36	34	22	0	ENST00000229329.2:c.232_242del	p.Ala78PhefsTer14	p.A78Ffs*14	ENST00000229329	NM_018686.4	78	GCGGCCCTGGAt/t	0	.	.	.	.	.	-	AALD/X	protein_coding	YES	CCDS8696.1	232-242	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCGTGCGGCCCTGGATTCAG	NONE	.	.	hmmpanther:PTHR21485:SF3,hmmpanther:PTHR21485,Gene3D:3.90.550.10,Pfam_domain:PF02348,Superfamily_domains:SSF53448	.	.	ENSP00000229329	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000229329	Transcript	.	.	ENSG00000111726	18290	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEUA_HUMAN	CMAS	HGNC	F5GYM0_HUMAN	.	UPI0000034274	deletion	CMAS,frameshift_variant,p.Ala78PhefsTer14,ENST00000229329,;CMAS,frameshift_variant,p.Ala78PhefsTer14,ENST00000534981,;CMAS,frameshift_variant,p.Ala78PhefsTer11,ENST00000535610,;	362-372	22	70	SUCCESS
RARG	5916	.	GRCh37	12	53607025	53607025	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs754842832	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	33	35	0	ENST00000425354.2:c.1021C>T	p.Arg341Cys	p.R341C	ENST00000425354	NM_000966.5	341	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8850.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGGTCTA	NONE	.	.	hmmpanther:PTHR24082:SF116,hmmpanther:PTHR24082,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000388510	.	9/10	.	.	.	.	.	.	.	.	rs754842832,COSM431375	9/10	PASS	ENST00000425354	Transcript	.	.	ENSG00000172819	9866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	RARG_HUMAN	RARG	HGNC	H3BMY6_HUMAN,H3BMK1_HUMAN,A8K3H3_HUMAN	.	UPI000000105D	SNV	RARG,missense_variant,p.Arg341Cys,ENST00000425354,;RARG,missense_variant,p.Arg269Cys,ENST00000327550,;RARG,missense_variant,p.Arg341Cys,ENST00000394426,;RARG,missense_variant,p.Arg319Cys,ENST00000543726,;RARG,missense_variant,p.Arg330Cys,ENST00000338561,;RARG,splice_region_variant,,ENST00000543762,;RARG,non_coding_transcript_exon_variant,,ENST00000550265,;RARG,downstream_gene_variant,,ENST00000548284,;RARG,downstream_gene_variant,,ENST00000548317,;RARG,downstream_gene_variant,,ENST00000551580,;	1509	35	62	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102510668	102510668	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1012807291	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	45	0	ENST00000360184.4:c.12742G>T	p.Ala4248Ser	p.A4248S	ENST00000360184	NM_001376.4	4248	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9966.1	12742	MUTECT|MUSE	.	TAATGGCCCAG	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000348965	.	71/78	.	.	.	.	.	.	.	.	.	71/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Ala4248Ser,ENST00000360184,;RP11-1017G21.4,non_coding_transcript_exon_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000553701,;RP11-1017G21.4,intron_variant,,ENST00000557242,;DYNC1H1,downstream_gene_variant,,ENST00000555102,;DYNC1H1,downstream_gene_variant,,ENST00000556499,;DYNC1H1,downstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000555062,;DYNC1H1,upstream_gene_variant,,ENST00000556229,;	12906	45	22	SUCCESS
KTN1	3895	.	GRCh37	14	56079097	56079097	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1261444785	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	48	116	0	ENST00000395314.3:c.331G>T	p.Val111Phe	p.V111F	ENST00000395314	NM_001079521.1	111	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS41957.1	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTGTTAGG	NONE	.	.	hmmpanther:PTHR18864	.	.	ENSP00000378725	.	2/44	.	.	.	.	.	.	.	.	.	2/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	deleterious(0)	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,missense_variant,p.Val111Phe,ENST00000395308,;KTN1,missense_variant,p.Val111Phe,ENST00000438792,;KTN1,missense_variant,p.Val111Phe,ENST00000395309,;KTN1,missense_variant,p.Val111Phe,ENST00000413890,;KTN1,missense_variant,p.Val111Phe,ENST00000395311,;KTN1,missense_variant,p.Val111Phe,ENST00000395314,;KTN1,missense_variant,p.Val111Phe,ENST00000416613,;KTN1,intron_variant,,ENST00000554567,;KTN1,downstream_gene_variant,,ENST00000555498,;KTN1,downstream_gene_variant,,ENST00000557267,;KTN1,missense_variant,p.Val111Phe,ENST00000459737,;	399	116	152	SUCCESS
RIN3	79890	.	GRCh37	14	93118817	93118817	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	21	53	0	ENST00000216487.7:c.1423C>T	p.Pro475Ser	p.P475S	ENST00000216487	NM_024832.3	475	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32144.1	1423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCCAGCT	NONE	.	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101	.	.	ENSP00000216487	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000216487	Transcript	.	.	ENSG00000100599	18751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated(0.2)	.	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,missense_variant,p.Pro475Ser,ENST00000216487,;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	1582	53	26	SUCCESS
OR4N4	283694	.	GRCh37	15	22382912	22382912	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	325	24	340	0	ENST00000328795.4:c.440C>T	p.Ala147Val	p.A147V	ENST00000328795	NM_001005241.2	147	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32173.1	440	MUTECT|MUSE	.	GTTGGCTCTGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF97,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000332500	.	1/1	.	.	.	.	.	.	.	.	COSM699530	1/1	PASS	ENST00000328795	Transcript	.	.	ENSG00000183706	15375	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.068)	.	tolerated(0.12)	1	OR4N4_HUMAN	OR4N4	HGNC	.	.	UPI0000041C1A	SNV	OR4N4,missense_variant,p.Ala147Val,ENST00000328795,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558312,;	531	340	349	SUCCESS
TRIP4	9325	.	GRCh37	15	64698610	64698610	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1596341254	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	23	94	0	ENST00000261884.3:c.779A>G	p.Glu260Gly	p.E260G	ENST00000261884	NM_016213.4	260	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS10194.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAGAAGG	NONE	.	.	hmmpanther:PTHR12963:SF0,hmmpanther:PTHR12963	.	.	ENSP00000261884	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000261884	Transcript	.	.	ENSG00000103671	12310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	TRIP4_HUMAN	TRIP4	HGNC	.	.	UPI0000035D96	SNV	TRIP4,missense_variant,p.Glu260Gly,ENST00000261884,;TRIP4,upstream_gene_variant,,ENST00000560475,;TRIP4,intron_variant,,ENST00000559565,;TRIP4,missense_variant,p.Glu260Gly,ENST00000560567,;TRIP4,3_prime_UTR_variant,,ENST00000558820,;TRIP4,intron_variant,,ENST00000561265,;	839	94	109	SUCCESS
RRN3P2	653390	.	GRCh37	16	29113397	29113397	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	24	164	0	ENST00000427965.2:n.1303C>T		p.*435*	ENST00000427965				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGACTCAGTGC	NONE	.	.	.	.	.	.	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000427965	Transcript	.	.	ENSG00000103472	37619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RRN3P2	HGNC	.	.	.	SNV	RRN3P2,non_coding_transcript_exon_variant,,ENST00000564580,;RRN3P2,non_coding_transcript_exon_variant,,ENST00000427965,;CTB-134H23.3,downstream_gene_variant,,ENST00000562618,;RRN3P2,non_coding_transcript_exon_variant,,ENST00000566038,;CTB-134H23.3,intron_variant,,ENST00000567688,;RRN3P2,downstream_gene_variant,,ENST00000415221,;	1303	164	130	SUCCESS
STX4	6810	.	GRCh37	16	31045531	31045531	+	intron_variant	Intron	SNP	C	C	T	rs1335783742	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	30	72	0	ENST00000313843.3:c.133-16C>T		p.*45*	ENST00000313843	NM_001272095.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10700.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCGGTCA	NONE	.	.	.	.	.	ENSP00000317714	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313843	Transcript	.	.	ENSG00000103496	11439	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX4_HUMAN	STX4	HGNC	B7Z425_HUMAN	.	UPI0000136162	SNV	STX4,synonymous_variant,p.%3D,ENST00000394998,;STX4,intron_variant,,ENST00000457779,;STX4,intron_variant,,ENST00000313843,;STX4,intron_variant,,ENST00000493902,;STX4,upstream_gene_variant,,ENST00000503629,;STX4,missense_variant,p.Arg47Trp,ENST00000496977,;STX4,missense_variant,p.Arg47Trp,ENST00000460668,;STX4,non_coding_transcript_exon_variant,,ENST00000478150,;STX4,non_coding_transcript_exon_variant,,ENST00000565483,;STX4,non_coding_transcript_exon_variant,,ENST00000566353,;STX4,intron_variant,,ENST00000461455,;STX4,intron_variant,,ENST00000487411,;STX4,upstream_gene_variant,,ENST00000475862,;STX4,upstream_gene_variant,,ENST00000468583,;STX4,upstream_gene_variant,,ENST00000486660,;	.	72	55	SUCCESS
NLRC3	197358	.	GRCh37	16	3613089	3613089	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1222465640	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	35	19	0	ENST00000359128.5:c.1849G>A	p.Glu617Lys	p.E617K	ENST00000359128		617	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	.	1990	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCCTGGG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF16	.	.	ENSP00000414415	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000448023	Transcript	.	.	ENSG00000167984	29889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	deleterious(0)	.	.	NLRC3	HGNC	C9JLH9_HUMAN	.	UPI0000246E58	SNV	NLRC3,missense_variant,p.Glu617Lys,ENST00000301749,;NLRC3,missense_variant,p.Glu599Lys,ENST00000324659,;NLRC3,missense_variant,p.Glu617Lys,ENST00000359128,;NLRC3,missense_variant,p.Glu664Lys,ENST00000448023,;NLRC3,non_coding_transcript_exon_variant,,ENST00000603128,;NLRC3,non_coding_transcript_exon_variant,,ENST00000419350,;NLRC3,downstream_gene_variant,,ENST00000603055,;NLRC3,missense_variant,p.Glu664Lys,ENST00000603507,;	2177	19	52	SUCCESS
ADCY9	115	.	GRCh37	16	4016936	4016936	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368342558	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	55	0	ENST00000294016.3:c.2902C>T	p.Pro968Ser	p.P968S	ENST00000294016	NM_001116.3	968	Ccg/Tcg	0	A:0	.	.	.	.	A	P/S	protein_coding	YES	CCDS32382.1	2902	MUTECT|MUSE	.	ACGCGGCACCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	.	A:0.0001	ENSP00000294016	.	11/11	.	.	.	.	.	.	.	.	rs368342558	11/11	PASS	ENST00000294016	Transcript	.	.	ENSG00000162104	240	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.83)	.	ADCY9_HUMAN	ADCY9	HGNC	.	.	UPI000012887F	SNV	ADCY9,missense_variant,p.Pro968Ser,ENST00000294016,;ADCY9,intron_variant,,ENST00000576936,;	3441	55	40	SUCCESS
N4BP1	9683	.	GRCh37	16	48595690	48595690	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	42	94	0	ENST00000262384.3:c.864T>A	p.Ser288=	p.S288=	ENST00000262384	NM_153029.3	288	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45479.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCAGAAAA	NONE	.	.	hmmpanther:PTHR12876:SF26,hmmpanther:PTHR12876	.	.	ENSP00000262384	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000262384	Transcript	.	.	ENSG00000102921	29850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N4BP1_HUMAN	N4BP1	HGNC	I3L3R7_HUMAN	.	UPI000013D2A2	SNV	N4BP1,synonymous_variant,p.%3D,ENST00000262384,;N4BP1,downstream_gene_variant,,ENST00000564710,;RP11-44I10.3,intron_variant,,ENST00000563994,;N4BP1,non_coding_transcript_exon_variant,,ENST00000564124,;	1101	94	65	SUCCESS
MT1F	4494	.	GRCh37	16	56692645	56692645	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	24	53	0	ENST00000334350.6:c.87C>T	p.Cys29=	p.C29=	ENST00000334350		29	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS32456.1	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23299,hmmpanther:PTHR23299:SF6,PROSITE_patterns:PS00203,Gene3D:4mt2A00,Pfam_domain:PF00131,Superfamily_domains:SSF57868,Prints_domain:PR00860	.	.	ENSP00000334872	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000334350	Transcript	.	.	ENSG00000198417	7398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT1F_HUMAN	MT1F	HGNC	.	.	UPI000012F6D8	SNV	MT1F,synonymous_variant,p.%3D,ENST00000568475,;MT1F,synonymous_variant,p.%3D,ENST00000394501,;MT1F,synonymous_variant,p.%3D,ENST00000334350,;MT1F,upstream_gene_variant,,ENST00000567672,;MT1F,non_coding_transcript_exon_variant,,ENST00000564295,;	452	53	39	SUCCESS
RAB11FIP3	9727	.	GRCh37	16	568966	568966	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	42	0	ENST00000262305.4:c.1664A>G	p.Asn555Ser	p.N555S	ENST00000262305	NM_014700.3	555	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32351.1	1664	MUTECT|MUSE	.	GGAGAACAGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF6	.	.	ENSP00000262305	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000262305	Transcript	.	.	ENSG00000090565	17224	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.766)	.	deleterious(0.01)	.	RFIP3_HUMAN	RAB11FIP3	HGNC	F6X994_HUMAN	.	UPI0000129C9C	SNV	RAB11FIP3,missense_variant,p.Asn476Ser,ENST00000434585,;RAB11FIP3,missense_variant,p.Asn259Ser,ENST00000450428,;RAB11FIP3,missense_variant,p.Asn600Ser,ENST00000457159,;RAB11FIP3,missense_variant,p.Asn555Ser,ENST00000262305,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000461009,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000487899,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000464263,;	2052	42	38	SUCCESS
KIFC3	3801	.	GRCh37	16	57832189	57832189	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs782671547	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	15	0	ENST00000379655.4:c.-34C>G		p.*12*	ENST00000379655	NM_005550.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10789.2	.	RADIA|MUTECT|MUSE	.	CACCAGGCAGC	NONE	byFrequency	.	.	.	.	ENSP00000368976	.	2/19	.	.	.	.	.	.	.	.	rs782671547	2/19	PASS	ENST00000379655	Transcript	.	.	ENSG00000140859	6326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIFC3_HUMAN	KIFC3	HGNC	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN	.	UPI000059D399	SNV	KIFC3,synonymous_variant,p.%3D,ENST00000563028,;KIFC3,synonymous_variant,p.%3D,ENST00000566648,;KIFC3,synonymous_variant,p.%3D,ENST00000567059,;KIFC3,synonymous_variant,p.%3D,ENST00000541240,;KIFC3,5_prime_UTR_variant,,ENST00000564891,;KIFC3,5_prime_UTR_variant,,ENST00000565684,;KIFC3,5_prime_UTR_variant,,ENST00000379655,;KIFC3,5_prime_UTR_variant,,ENST00000445690,;KIFC3,intron_variant,,ENST00000562984,;KIFC3,intron_variant,,ENST00000562311,;KIFC3,intron_variant,,ENST00000565481,;KIFC3,intron_variant,,ENST00000569112,;KIFC3,upstream_gene_variant,,ENST00000539578,;KIFC3,upstream_gene_variant,,ENST00000562503,;KIFC3,upstream_gene_variant,,ENST00000421376,;KIFC3,upstream_gene_variant,,ENST00000465878,;KIFC3,upstream_gene_variant,,ENST00000561524,;CTD-2600O9.1,non_coding_transcript_exon_variant,,ENST00000566652,;CTD-2600O9.1,non_coding_transcript_exon_variant,,ENST00000568697,;KIFC3,non_coding_transcript_exon_variant,,ENST00000567204,;KIFC3,intron_variant,,ENST00000565871,;KIFC3,upstream_gene_variant,,ENST00000566975,;KIFC3,non_coding_transcript_exon_variant,,ENST00000566914,;	225	15	12	SUCCESS
KDM6B	23135	.	GRCh37	17	7755291	7755291	+	synonymous_variant	Silent	SNP	C	C	T	rs758374059	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	71	0	ENST00000448097.2:c.4188C>T	p.Phe1396=	p.F1396=	ENST00000448097		1396	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS32552.1	4188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCTGCTC	NONE	byFrequency	.	PROSITE_profiles:PS51184,hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000254846	.	18/22	.	.	.	.	.	.	.	.	rs758374059	18/22	PASS	ENST00000254846	Transcript	.	.	ENSG00000132510	29012	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM6B_HUMAN	KDM6B	HGNC	D3DTQ7_HUMAN	.	UPI00006C175B	SNV	KDM6B,synonymous_variant,p.%3D,ENST00000448097,;KDM6B,synonymous_variant,p.%3D,ENST00000254846,;LSMD1,downstream_gene_variant,,ENST00000335155,;LSMD1,downstream_gene_variant,,ENST00000333775,;TMEM88,upstream_gene_variant,,ENST00000301599,;LSMD1,downstream_gene_variant,,ENST00000575071,;TMEM88,upstream_gene_variant,,ENST00000574668,;LSMD1,downstream_gene_variant,,ENST00000576384,;LSMD1,downstream_gene_variant,,ENST00000576861,;KDM6B,downstream_gene_variant,,ENST00000570632,;LSMD1,downstream_gene_variant,,ENST00000575208,;LSMD1,downstream_gene_variant,,ENST00000575771,;	4577	71	85	SUCCESS
ENTHD2	0	.	GRCh37	17	79203158	79203158	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	130	0	ENST00000300714.3:c.1148C>G	p.Pro383Arg	p.P383R	ENST00000300714	NM_144679.2	383	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS11779.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGGCACA	NONE	.	.	hmmpanther:PTHR21514:SF0,hmmpanther:PTHR21514	.	.	ENSP00000300714	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000300714	Transcript	.	.	ENSG00000167302	26458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AP4AT_HUMAN	ENTHD2	HGNC	.	.	UPI0000071221	SNV	ENTHD2,missense_variant,p.Pro299Arg,ENST00000374769,;ENTHD2,missense_variant,p.Pro383Arg,ENST00000300714,;ENTHD2,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000569559,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;ENTHD2,3_prime_UTR_variant,,ENST00000571115,;ENTHD2,non_coding_transcript_exon_variant,,ENST00000576090,;ENTHD2,non_coding_transcript_exon_variant,,ENST00000573295,;ENTHD2,downstream_gene_variant,,ENST00000570854,;ENTHD2,downstream_gene_variant,,ENST00000574944,;	1206	130	95	SUCCESS
ATG4D	84971	.	GRCh37	19	10657547	10657547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142336391	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	38	0	ENST00000309469.4:c.526C>T	p.Pro176Ser	p.P176S	ENST00000309469	NM_032885.5	176	Ccc/Tcc	0	T:0.0014	T:0.0015	.	T:0	.	T	P/S	protein_coding	YES	CCDS12241.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCCCCCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF36,Pfam_domain:PF03416	T:0	T:0	ENSP00000311318	T:0	4/10	.	.	.	.	.	.	.	.	rs142336391	4/10	PASS	ENST00000309469	Transcript	.	T:0.0004	ENSG00000130734	20789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	T:0	tolerated(0.41)	.	ATG4D_HUMAN	ATG4D	HGNC	Q969K0_HUMAN,K7EKP6_HUMAN	.	UPI000000DCA0	SNV	ATG4D,missense_variant,p.Pro176Ser,ENST00000309469,;ATG4D,missense_variant,p.Pro142Ser,ENST00000586477,;ATG4D,missense_variant,p.Pro16Ser,ENST00000587256,;ATG4D,intron_variant,,ENST00000586863,;ATG4D,intron_variant,,ENST00000540862,;ATG4D,upstream_gene_variant,,ENST00000588972,;RNU7-140P,downstream_gene_variant,,ENST00000459546,;ATG4D,missense_variant,p.Pro176Ser,ENST00000588857,;ATG4D,3_prime_UTR_variant,,ENST00000586417,;ATG4D,non_coding_transcript_exon_variant,,ENST00000590096,;ATG4D,intron_variant,,ENST00000588667,;ATG4D,intron_variant,,ENST00000585752,;ATG4D,intron_variant,,ENST00000589753,;	699	38	61	SUCCESS
KCNN1	3780	.	GRCh37	19	18092829	18092829	+	synonymous_variant	Silent	SNP	G	G	A	rs374014650	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	31	0	ENST00000222249.9:c.810G>A	p.Thr270=	p.T270=	ENST00000222249	NM_002248.4	270	acG/acA	0	A:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS67611.1	810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACGCGCTT	NONE	byCluster	.	hmmpanther:PTHR10153:SF8,hmmpanther:PTHR10153,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	A:0	ENSP00000476519	.	5/11	.	.	.	.	.	.	.	.	rs374014650	5/11	PASS	ENST00000222249	Transcript	.	.	ENSG00000105642	6290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNN1_HUMAN	KCNN1	HGNC	.	.	UPI00001649F9	SNV	KCNN1,synonymous_variant,p.%3D,ENST00000222249,;	1129	31	85	SUCCESS
TMEM145	284339	.	GRCh37	19	42820695	42820695	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs117101875	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	11	71	0	ENST00000301204.3:c.709G>A	p.Glu237Lys	p.E237K	ENST00000301204	NM_173633.2	237	Gag/Aag	0	.	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS12603.1	709	RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGAGAGT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23252,hmmpanther:PTHR23252:SF24,Pfam_domain:PF10192	A:0.003	.	ENSP00000301204	A:0	9/15	.	.	.	.	.	.	.	.	rs117101875	9/15	PASS	ENST00000301204	Transcript	.	A:0.0006	ENSG00000167619	26912	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.12)	A:0	tolerated(0.75)	.	TM145_HUMAN	TMEM145	HGNC	.	.	UPI000013E6E6	SNV	TMEM145,missense_variant,p.Glu261Lys,ENST00000598766,;TMEM145,missense_variant,p.Glu237Lys,ENST00000301204,;TMEM145,upstream_gene_variant,,ENST00000601644,;TMEM145,downstream_gene_variant,,ENST00000601020,;TMEM145,downstream_gene_variant,,ENST00000595775,;	750	71	99	SUCCESS
MED25	81857	.	GRCh37	19	50331706	50331706	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	43	60	0	ENST00000312865.6:c.306G>T	p.Lys102Asn	p.K102N	ENST00000312865	NM_030973.3	102	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS33075.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGTTCAT	NONE	.	.	hmmpanther:PTHR12433,hmmpanther:PTHR12433:SF10,Pfam_domain:PF11265,Superfamily_domains:SSF53300	.	.	ENSP00000326767	.	4/18	.	.	.	.	.	.	.	.	COSM713369,COSM713370	4/18	PASS	ENST00000312865	Transcript	1	.	ENSG00000104973	28845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.175)	.	deleterious(0.03)	1,1	MED25_HUMAN	MED25	HGNC	.	.	UPI00002029A3	SNV	MED25,missense_variant,p.Lys102Asn,ENST00000595185,;MED25,missense_variant,p.Lys102Asn,ENST00000312865,;MED25,intron_variant,,ENST00000538643,;MED25,upstream_gene_variant,,ENST00000594998,;MED25,upstream_gene_variant,,ENST00000599722,;	359	60	82	SUCCESS
ZNF841	284371	.	GRCh37	19	52570784	52570784	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	37	224	0	ENST00000426391.2:c.3G>T	p.Met1?	p.M1?	ENST00000426391		1	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS46161.1	351	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAACATCAC	NONE	.	.	hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.25)	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,start_lost,p.Met1?,ENST00000426391,;ZNF841,start_lost,p.Met1?,ENST00000359973,;ZNF841,missense_variant,p.Met13Ile,ENST00000601738,;ZNF841,missense_variant,p.Met117Ile,ENST00000389534,;ZNF841,missense_variant,p.Met117Ile,ENST00000594295,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,non_coding_transcript_exon_variant,,ENST00000595599,;	811	224	257	SUCCESS
ZNF578	147660	.	GRCh37	19	53014990	53014990	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779530711	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	39	87	0	ENST00000421239.2:c.1356G>T	p.Glu452Asp	p.E452D	ENST00000421239	NM_001099694.1	452	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54310.1	1356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGAAATC	NONE	byFrequency	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50157	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	rs779530711,COSM1395952	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.167)	.	deleterious(0.02)	0,1	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,missense_variant,p.Glu452Asp,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;	1600	87	123	SUCCESS
UBE2S	27338	.	GRCh37	19	55918294	55918294	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374069290	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	13	70	0	ENST00000264552.9:c.40C>T	p.Arg14Cys	p.R14C	ENST00000264552	NM_014501.2	14	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS33114.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGGATGA	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF57,hmmpanther:PTHR24067,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	A:0.0001	ENSP00000264552	.	2/4	.	.	.	.	.	.	.	.	rs374069290	2/4	PASS	ENST00000264552	Transcript	.	.	ENSG00000108106	17895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	UBE2S_HUMAN	UBE2S	HGNC	.	.	UPI000000122B	SNV	UBE2S,missense_variant,p.Arg14Cys,ENST00000264552,;UBE2S,missense_variant,p.Arg14Cys,ENST00000589978,;UBE2S,missense_variant,p.Arg14Cys,ENST00000587845,;RPL28,downstream_gene_variant,,ENST00000560055,;UBE2S,upstream_gene_variant,,ENST00000592570,;	228	70	82	SUCCESS
ZIM3	114026	.	GRCh37	19	57646911	57646911	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	31	173	1	ENST00000269834.1:c.794C>G	p.Ser265Cys	p.S265C	ENST00000269834	NM_052882.1	265	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS33125.1	794	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGATGAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000269834	.	5/5	.	.	.	.	.	.	.	.	COSM363315	5/5	PASS	ENST00000269834	Transcript	.	.	ENSG00000141946	16366	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.002)	.	tolerated(0.13)	1	ZIM3_HUMAN	ZIM3	HGNC	.	.	UPI000013C3E0	SNV	ZIM3,missense_variant,p.Ser265Cys,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000598197,;USP29,downstream_gene_variant,,ENST00000254181,;U3,upstream_gene_variant,,ENST00000516874,;	1180	174	221	SUCCESS
ZSCAN4	201516	.	GRCh37	19	58187569	58187569	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	83	107	0	ENST00000318203.5:c.56G>A	p.Gly19Glu	p.G19E	ENST00000318203	NM_152677.2	19	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12958.1	56	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGATCAG	NONE	.	.	hmmpanther:PTHR23226:SF45,hmmpanther:PTHR23226	.	.	ENSP00000321963	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000318203	Transcript	.	.	ENSG00000180532	23709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.57)	.	ZSCA4_HUMAN	ZSCAN4	HGNC	.	.	UPI000006E923	SNV	ZSCAN4,missense_variant,p.Gly19Glu,ENST00000318203,;	753	107	150	SUCCESS
ZNF551	90233	.	GRCh37	19	58199625	58199625	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs928172581	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	48	0	ENST00000282296.5:c.1982A>G	p.His661Arg	p.H661R	ENST00000282296		661	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS12959.2	1982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACATCGGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF212,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000282296	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282296	Transcript	.	.	ENSG00000204519	25108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ZN551_HUMAN	ZNF551	HGNC	M0R2M4_HUMAN	.	UPI000059D7C6	SNV	ZNF551,missense_variant,p.His661Arg,ENST00000282296,;ZNF551,missense_variant,p.His645Arg,ENST00000356715,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC004017.1,downstream_gene_variant,,ENST00000597520,;ZNF551,downstream_gene_variant,,ENST00000601064,;AC003006.7,intron_variant,,ENST00000599221,;ZNF551,downstream_gene_variant,,ENST00000599402,;	2167	48	68	SUCCESS
ZNF121	7675	.	GRCh37	19	9677428	9677428	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs144655023	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	84	138	0	ENST00000320451.6:c.361T>C	p.Cys121Arg	p.C121R	ENST00000320451	NM_001008727.2	121	Tgt/Cgt	0	G:0	.	.	.	.	G	C/R	protein_coding	YES	CCDS32902.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACATTGCT	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF119,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	G:0.0003	ENSP00000326967	.	4/4	.	.	.	.	.	.	.	.	rs144655023	4/4	PASS	ENST00000320451	Transcript	.	.	ENSG00000197961	12904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.02)	.	ZN121_HUMAN	ZNF121	HGNC	K7EQI1_HUMAN	.	UPI0000203287	SNV	ZNF121,missense_variant,p.Cys121Arg,ENST00000591447,;ZNF121,missense_variant,p.Cys121Arg,ENST00000586602,;ZNF121,missense_variant,p.Cys121Arg,ENST00000320451,;ZNF121,upstream_gene_variant,,ENST00000590933,;	593	138	147	SUCCESS
SLC16A1	6566	.	GRCh37	1	113471853	113471853	+	synonymous_variant	Silent	SNP	A	A	G	rs771773316	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	37	0	ENST00000369626.3:c.78T>C	p.Ala26=	p.A26=	ENST00000369626	NM_003051.3	26	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS858.1	78	RADIA|MUSE	.	ATGAAAGCTCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF24,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00892,Superfamily_domains:SSF103473	.	.	ENSP00000441065	.	2/5	.	.	.	.	.	.	.	.	rs771773316	2/5	PASS	ENST00000538576	Transcript	.	.	ENSG00000155380	10922	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MOT1_HUMAN	SLC16A1	HGNC	Q5T8R5_HUMAN,Q5T8R4_HUMAN,Q5T8R3_HUMAN	.	UPI00000012F5	SNV	SLC16A1,synonymous_variant,p.%3D,ENST00000369626,;SLC16A1,synonymous_variant,p.%3D,ENST00000429288,;SLC16A1,synonymous_variant,p.%3D,ENST00000433570,;SLC16A1,synonymous_variant,p.%3D,ENST00000458229,;SLC16A1,synonymous_variant,p.%3D,ENST00000443580,;SLC16A1,synonymous_variant,p.%3D,ENST00000538576,;SLC16A1,non_coding_transcript_exon_variant,,ENST00000478835,;AKR7A2P1,downstream_gene_variant,,ENST00000460134,;	910	37	25	SUCCESS
AP4B1-AS1	100287722	.	GRCh37	1	114443785	114443785	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	43	75	0	ENST00000419536.1:n.1660A>T		p.*554*	ENST00000419536				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS865.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAATACTT	NONE	.	.	.	.	.	ENSP00000358582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369569	Transcript	.	.	ENSG00000134262	572	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AP4B1_HUMAN	AP4B1	HGNC	B1ALD2_HUMAN	.	UPI0000072F63	SNV	AP4B1,intron_variant,,ENST00000432415,;AP4B1,intron_variant,,ENST00000256658,;AP4B1,intron_variant,,ENST00000369564,;AP4B1,intron_variant,,ENST00000369569,;AP4B1,intron_variant,,ENST00000369567,;AP4B1,intron_variant,,ENST00000369571,;AP4B1,intron_variant,,ENST00000369566,;DCLRE1B,upstream_gene_variant,,ENST00000369563,;AP4B1-AS1,non_coding_transcript_exon_variant,,ENST00000419536,;AP4B1,intron_variant,,ENST00000489092,;AP4B1,intron_variant,,ENST00000489499,;AP4B1,intron_variant,,ENST00000484201,;AP4B1,intron_variant,,ENST00000472122,;AP4B1,upstream_gene_variant,,ENST00000479801,;AP4B1,upstream_gene_variant,,ENST00000479285,;AP4B1,upstream_gene_variant,,ENST00000460653,;AP4B1,upstream_gene_variant,,ENST00000462591,;DCLRE1B,upstream_gene_variant,,ENST00000466480,;	.	75	65	SUCCESS
FLG2	388698	.	GRCh37	1	152327575	152327575	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	26	147	0	ENST00000388718.5:c.2687G>A	p.Gly896Asp	p.G896D	ENST00000388718	NM_001014342.2	896	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS30861.1	2687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGCCACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Gly896Asp,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	2760	147	152	SUCCESS
S100A7	6278	.	GRCh37	1	153430321	153430321	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766366283	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	33	181	0	ENST00000368722.1:c.267G>T	p.Gln89His	p.Q89H	ENST00000368722		89	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1039.1	267	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCTGCTT	BUFFER|p.G92R|c.274G>A|4	byFrequency	.	hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF64,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357712	.	3/3	.	.	.	.	.	.	.	.	rs766366283	3/3	PASS	ENST00000368723	Transcript	.	.	ENSG00000143556	10497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.2)	.	S10A7_HUMAN	S100A7	HGNC	.	.	UPI000013D90F	SNV	S100A7,missense_variant,p.Gln89His,ENST00000368723,;S100A7,missense_variant,p.Gln89His,ENST00000368722,;	378	181	184	SUCCESS
ETV3L	440695	.	GRCh37	1	157069139	157069139	+	synonymous_variant	Silent	SNP	G	G	A	rs750838692	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	15	92	1	ENST00000454449.2:c.90C>T	p.Ala30=	p.A30=	ENST00000454449	NM_001004341.2	30	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30893.1	90	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCGGCTTT	NONE	.	.	hmmpanther:PTHR11849:SF163,hmmpanther:PTHR11849,Gene3D:1.10.10.10	.	.	ENSP00000430271	.	2/5	.	.	.	.	.	.	.	.	rs750838692	2/5	PASS	ENST00000454449	Transcript	.	.	ENSG00000253831	33834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETV3L_HUMAN	ETV3L	HGNC	.	.	UPI000035E7AE	SNV	ETV3L,synonymous_variant,p.%3D,ENST00000454449,;	375	93	89	SUCCESS
DUSP27	0	.	GRCh37	1	167096333	167096333	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	62	0	ENST00000361200.2:c.1965G>C	p.Gly655=	p.G655=	ENST00000361200		655	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS30932.1	1965	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGGAGCAT	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	2131	62	85	SUCCESS
USH2A	7399	.	GRCh37	1	215932017	215932017	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	86	0	ENST00000307340.3:c.11309C>G	p.Ser3770Ter	p.S3770*	ENST00000307340	NM_206933.2	3770	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS31025.1	11309	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTGACATA	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	58/72	.	.	.	.	.	.	.	.	.	58/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,stop_gained,p.Ser3770Ter,ENST00000366943,;USH2A,stop_gained,p.Ser3770Ter,ENST00000307340,;	11696	86	77	SUCCESS
USH2A	7399	.	GRCh37	1	216495239	216495239	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	85	152	0	ENST00000307340.3:c.1630A>G	p.Thr544Ala	p.T544A	ENST00000307340	NM_206933.2	544	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31025.1	1630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGTGAAGC	NONE	.	.	SMART_domains:SM00180,Gene3D:2.10.25.10,Pfam_domain:PF00053,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	9/72	.	.	.	.	.	.	.	.	.	9/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Thr544Ala,ENST00000366942,;USH2A,missense_variant,p.Thr544Ala,ENST00000366943,;USH2A,missense_variant,p.Thr544Ala,ENST00000307340,;	2017	152	113	SUCCESS
TCEB3	0	.	GRCh37	1	24078281	24078281	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	29	57	0	ENST00000418390.2:c.1264A>G	p.Met422Val	p.M422V	ENST00000418390	NM_003198.2	422	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS239.2	1264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATGGAG	NONE	.	.	hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141	.	.	ENSP00000395574	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000418390	Transcript	.	.	ENSG00000011007	11620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.74)	.	ELOA1_HUMAN	TCEB3	HGNC	.	.	UPI000181BA17	SNV	TCEB3,missense_variant,p.Met422Val,ENST00000418390,;TCEB3,missense_variant,p.Met396Val,ENST00000609199,;TCEB3,downstream_gene_variant,,ENST00000487554,;	1535	57	41	SUCCESS
PSMF1	9491	.	GRCh37	20	1106148	1106148	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	82	1	ENST00000333082.3:c.137C>T	p.Pro46Leu	p.P46L	ENST00000333082	NM_178578.2	46	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13010.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCCAATG	NONE	.	.	hmmpanther:PTHR13266,Pfam_domain:PF11566	.	.	ENSP00000338039	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000335877	Transcript	.	.	ENSG00000125818	9571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.02)	.	PSMF1_HUMAN	PSMF1	HGNC	Q5QPM9_HUMAN	.	UPI000013CBCB	SNV	PSMF1,missense_variant,p.Pro46Leu,ENST00000246015,;PSMF1,missense_variant,p.Pro46Leu,ENST00000438768,;PSMF1,missense_variant,p.Pro46Leu,ENST00000381899,;PSMF1,missense_variant,p.Pro46Leu,ENST00000333082,;PSMF1,missense_variant,p.Pro46Leu,ENST00000335877,;PSMF1,5_prime_UTR_variant,,ENST00000381898,;PSMF1,non_coding_transcript_exon_variant,,ENST00000478004,;PSMF1,non_coding_transcript_exon_variant,,ENST00000479715,;	313	83	85	SUCCESS
SAMSN1	64092	.	GRCh37	21	15858388	15858388	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	38	132	0	ENST00000400566.1:c.967G>T	p.Asp323Tyr	p.D323Y	ENST00000400566	NM_022136.4	323	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS58786.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTCTGAGC	NONE	.	.	hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4	.	.	ENSP00000285670	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000285670	Transcript	.	.	ENSG00000155307	10528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.583)	.	deleterious(0)	.	.	SAMSN1	HGNC	S6FRS6_HUMAN,F8WAA1_HUMAN	.	UPI000013DDFD	SNV	SAMSN1,missense_variant,p.Asp323Tyr,ENST00000400566,;SAMSN1,missense_variant,p.Asp155Tyr,ENST00000400564,;SAMSN1,missense_variant,p.Asp391Tyr,ENST00000285670,;	1346	132	148	SUCCESS
IGSF5	150084	.	GRCh37	21	41137531	41137531	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs372378189	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	47	0	ENST00000380588.4:c.170G>T	p.Arg57Leu	p.R57L	ENST00000380588	NM_001080444.1	57	cGc/cTc	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS33562.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCGCTTCA	CODON|p.R57C|c.169C>T|3	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831,hmmpanther:PTHR19831:SF41,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	A:0	ENSP00000369962	.	3/9	.	.	.	.	.	.	.	.	rs372378189,COSM174861	3/9	PASS	ENST00000380588	Transcript	.	.	ENSG00000183067	5952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.975)	.	deleterious(0)	0,1	IGSF5_HUMAN	IGSF5	HGNC	.	.	UPI0000198970	SNV	IGSF5,missense_variant,p.Arg57Leu,ENST00000380588,;IGSF5,non_coding_transcript_exon_variant,,ENST00000479378,;	273	47	60	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105885897	105885897	+	synonymous_variant	Silent	SNP	G	G	A	rs763610405	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	88	0	ENST00000258449.1:c.2238C>T	p.Thr746=	p.T746=	ENST00000258449	NM_001142621.1	746	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2067.1	2238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCGGTGGC	NONE	byFrequency	.	hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF10367	.	.	ENSP00000377027	.	11/12	.	.	.	.	.	.	.	.	rs763610405	11/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,synonymous_variant,p.%3D,ENST00000393359,;TGFBRAP1,synonymous_variant,p.%3D,ENST00000258449,;AC012360.2,upstream_gene_variant,,ENST00000595531,;	2665	88	101	SUCCESS
RGPD4	285190	.	GRCh37	2	108487292	108487292	+	synonymous_variant	Silent	SNP	T	T	C	rs781250584	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	766	154	901	1	ENST00000408999.3:c.2832T>C	p.Asp944=	p.D944=	ENST00000408999	NM_182588.2	944	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS46381.1	2832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATACTGG	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	rs781250584	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	2909	902	920	SUCCESS
CDCA7	83879	.	GRCh37	2	174231134	174231134	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	86	0	ENST00000347703.3:c.922G>A	p.Glu308Lys	p.E308K	ENST00000347703	NM_145810.2	308	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2252.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAGAGGTC	NONE	.	.	hmmpanther:PTHR31169:SF2,hmmpanther:PTHR31169,Pfam_domain:PF10497	.	.	ENSP00000306968	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000306721	Transcript	.	.	ENSG00000144354	14628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0)	.	CDCA7_HUMAN	CDCA7	HGNC	B4DM13_HUMAN	.	UPI0000456EA4	SNV	CDCA7,missense_variant,p.Glu343Lys,ENST00000410101,;CDCA7,missense_variant,p.Glu387Lys,ENST00000306721,;CDCA7,missense_variant,p.Glu266Lys,ENST00000410019,;CDCA7,missense_variant,p.Glu308Lys,ENST00000347703,;CDCA7,intron_variant,,ENST00000392567,;CDCA7,non_coding_transcript_exon_variant,,ENST00000496441,;CDCA7,intron_variant,,ENST00000467411,;CDCA7,downstream_gene_variant,,ENST00000468359,;CDCA7,downstream_gene_variant,,ENST00000435616,;	1262	86	88	SUCCESS
SMC6	79677	.	GRCh37	2	17877588	17877588	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	18	133	0	ENST00000351948.4:c.2500C>T	p.Arg834Ter	p.R834*	ENST00000351948	NM_024624.5	834	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1690.1	2500	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGTTTCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF2,Pfam_domain:PF02463,Superfamily_domains:SSF52540	.	.	ENSP00000404092	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000448223	Transcript	.	.	ENSG00000163029	20466	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMC6_HUMAN	SMC6	HGNC	C9JEF0_HUMAN	.	UPI0000073C3B	SNV	SMC6,stop_gained,p.Arg860Ter,ENST00000381272,;SMC6,stop_gained,p.Arg834Ter,ENST00000448223,;SMC6,stop_gained,p.Arg834Ter,ENST00000351948,;SMC6,stop_gained,p.Arg834Ter,ENST00000402989,;	2770	134	105	SUCCESS
DPYSL5	56896	.	GRCh37	2	27156166	27156166	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372829541	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	53	111	0	ENST00000288699.6:c.755C>T	p.Ser252Leu	p.S252L	ENST00000288699	NM_001253724.1	252	tCg/tTg	0	T:0	.	.	.	.	T	S/L	protein_coding	YES	CCDS1730.1	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTCGGCTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11647:SF58,hmmpanther:PTHR11647,Gene3D:3.20.20.140,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	T:0.0001	ENSP00000288699	.	7/13	.	.	.	.	.	.	.	.	rs372829541,COSM720687	7/13	PASS	ENST00000288699	Transcript	.	.	ENSG00000157851	20637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.005)	.	deleterious(0.03)	0,1	DPYL5_HUMAN	DPYSL5	HGNC	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN	.	UPI00000411CF	SNV	DPYSL5,missense_variant,p.Ser252Leu,ENST00000288699,;DPYSL5,missense_variant,p.Ser252Leu,ENST00000401478,;	913	111	111	SUCCESS
PLB1	151056	.	GRCh37	2	28825786	28825786	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	28	0	ENST00000327757.5:c.2772C>T		p.X924_splice	ENST00000327757	NM_153021.4	924	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33168.1	2772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCAGGTA	NONE	.	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1,Pfam_domain:PF00657,Superfamily_domains:SSF52266	.	.	ENSP00000330442	.	39/58	.	.	.	.	.	.	.	.	.	39/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,synonymous_variant,p.%3D,ENST00000327757,;PLB1,synonymous_variant,p.%3D,ENST00000422425,;PLB1,synonymous_variant,p.%3D,ENST00000404858,;PLB1,splice_region_variant,,ENST00000541605,;PLB1,synonymous_variant,p.%3D,ENST00000411743,;PLB1,splice_region_variant,,ENST00000479065,;PLB1,upstream_gene_variant,,ENST00000444257,;	2816	28	26	SUCCESS
THADA	63892	.	GRCh37	2	43458154	43458154	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	59	101	0	ENST00000405006.4:c.5795T>G	p.Leu1932Arg	p.L1932R	ENST00000405006	NM_001083953.1	1932	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS46268.1	5795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGAGAACT	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	.	.	ENSP00000385995	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated_low_confidence(0.05)	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,missense_variant,p.Leu1172Arg,ENST00000407351,;THADA,missense_variant,p.Leu1613Arg,ENST00000415080,;THADA,missense_variant,p.Leu1932Arg,ENST00000405006,;THADA,missense_variant,p.Leu1932Arg,ENST00000405975,;THADA,intron_variant,,ENST00000330266,;ZFP36L2,upstream_gene_variant,,ENST00000282388,;AC010883.5,intron_variant,,ENST00000423354,;THADA,downstream_gene_variant,,ENST00000467668,;THADA,3_prime_UTR_variant,,ENST00000398653,;	6147	101	124	SUCCESS
CLEC4F	165530	.	GRCh37	2	71043685	71043685	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	104	244	0	ENST00000272367.2:c.828T>C	p.Asn276=	p.N276=	ENST00000272367	NM_001258027.1	276	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS1910.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTATTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195	.	.	ENSP00000272367	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000272367	Transcript	.	.	ENSG00000152672	25357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC4F_HUMAN	CLEC4F	HGNC	.	.	UPI0000376BCC	SNV	CLEC4F,synonymous_variant,p.%3D,ENST00000426626,;CLEC4F,synonymous_variant,p.%3D,ENST00000272367,;	905	244	197	SUCCESS
DYSF	8291	.	GRCh37	2	71892431	71892431	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768208859	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	44	0	ENST00000258104.3:c.5197A>G	p.Ile1733Val	p.I1733V	ENST00000258104	NM_003494.3	1733	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46328.1	5314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGATAGGT	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35	.	.	ENSP00000386881	.	47/56	.	.	.	.	.	.	.	.	rs768208859	47/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.05)	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Ile1771Val,ENST00000409582,;DYSF,missense_variant,p.Ile1772Val,ENST00000410020,;DYSF,missense_variant,p.Ile1741Val,ENST00000409744,;DYSF,missense_variant,p.Ile1754Val,ENST00000429174,;DYSF,missense_variant,p.Ile1750Val,ENST00000409762,;DYSF,missense_variant,p.Ile1751Val,ENST00000410041,;DYSF,missense_variant,p.Ile1765Val,ENST00000409651,;DYSF,missense_variant,p.Ile1734Val,ENST00000394120,;DYSF,missense_variant,p.Ile1755Val,ENST00000409366,;DYSF,missense_variant,p.Ile1764Val,ENST00000413539,;DYSF,missense_variant,p.Ile1733Val,ENST00000258104,;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;	5455	44	55	SUCCESS
HK2	3099	.	GRCh37	2	75113781	75113781	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	47	0	ENST00000290573.2:c.2200C>T	p.Leu734Phe	p.L734F	ENST00000290573	NM_000189.4	734	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1956.1	2200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACTCAAC	NONE	.	.	hmmpanther:PTHR19443:SF4,hmmpanther:PTHR19443,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067	.	.	ENSP00000290573	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,missense_variant,p.Leu706Phe,ENST00000409174,;HK2,missense_variant,p.Leu734Phe,ENST00000290573,;	2800	47	47	SUCCESS
STARD7	56910	.	GRCh37	2	96874004	96874004	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	39	0	ENST00000337288.5:c.169C>T	p.Leu57Phe	p.L57F	ENST00000337288	NM_020151.3	57	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS2017.2	169	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGAACGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19308:SF4,hmmpanther:PTHR19308	.	.	ENSP00000338030	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000337288	Transcript	.	.	ENSG00000084090	18063	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.974)	.	deleterious(0.01)	.	STAR7_HUMAN	STARD7	HGNC	C9JTD3_HUMAN	.	UPI0000001C0C	SNV	STARD7,missense_variant,p.Leu57Phe,ENST00000337288,;STARD7,intron_variant,,ENST00000443962,;STARD7-AS1,upstream_gene_variant,,ENST00000446816,;STARD7,upstream_gene_variant,,ENST00000488084,;	553	39	53	SUCCESS
SLCO2A1	6578	.	GRCh37	3	133654650	133654650	+	synonymous_variant	Silent	SNP	G	G	A	rs751921800	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	107	0	ENST00000310926.4:c.1782C>T	p.Cys594=	p.C594=	ENST00000310926	NM_005630.2	594	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS3084.1	1782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCGCAGGC	NONE	byFrequency	.	Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS50850	.	.	ENSP00000311291	.	13/14	.	.	.	.	.	.	.	.	rs751921800	13/14	PASS	ENST00000310926	Transcript	.	.	ENSG00000174640	10955	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO2A1_HUMAN	SLCO2A1	HGNC	Q4LEJ9_HUMAN	.	UPI000013F0AD	SNV	SLCO2A1,synonymous_variant,p.%3D,ENST00000493729,;SLCO2A1,synonymous_variant,p.%3D,ENST00000310926,;SLCO2A1,3_prime_UTR_variant,,ENST00000481359,;	2056	107	110	SUCCESS
UBXN7	26043	.	GRCh37	3	196089289	196089289	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	37	71	0	ENST00000296328.4:c.1104G>A	p.Glu368=	p.E368=	ENST00000296328	NM_015562.1	368	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43191.1	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCTCAGT	NONE	.	.	hmmpanther:PTHR23322:SF6,hmmpanther:PTHR23322,PIRSF_domain:PIRSF037991	.	.	ENSP00000296328	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000296328	Transcript	.	.	ENSG00000163960	29119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBXN7_HUMAN	UBXN7	HGNC	F5GYB1_HUMAN,C9JD50_HUMAN,C9JAT7_HUMAN	.	UPI00001C1DEF	SNV	UBXN7,synonymous_variant,p.%3D,ENST00000535858,;UBXN7,synonymous_variant,p.%3D,ENST00000428095,;UBXN7,synonymous_variant,p.%3D,ENST00000296328,;UBXN7,3_prime_UTR_variant,,ENST00000429160,;	1179	71	66	SUCCESS
PBRM1	55193	.	GRCh37	3	52584506	52584506	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	27	47	0	ENST00000394830.3:c.4507T>C	p.Tyr1503His	p.Y1503H	ENST00000394830	NM_018313.4	1503	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS43099.1	4507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTAGGCCT	NONE	.	.	hmmpanther:PTHR16062	.	.	ENSP00000378307	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000394830	Transcript	.	.	ENSG00000163939	30064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	SNV	PBRM1,missense_variant,p.Tyr1503His,ENST00000394830,;PBRM1,missense_variant,p.Tyr1555His,ENST00000409057,;PBRM1,missense_variant,p.Tyr1530His,ENST00000410007,;PBRM1,missense_variant,p.Tyr1523His,ENST00000356770,;PBRM1,missense_variant,p.Tyr1610His,ENST00000296302,;PBRM1,missense_variant,p.Tyr1518His,ENST00000409767,;PBRM1,missense_variant,p.Tyr1503His,ENST00000337303,;PBRM1,missense_variant,p.Tyr1573His,ENST00000409114,;SMIM4,intron_variant,,ENST00000476842,;PBRM1,downstream_gene_variant,,ENST00000423351,;RNU6-856P,downstream_gene_variant,,ENST00000516959,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	4607	47	34	SUCCESS
FILIP1L	11259	.	GRCh37	3	99643072	99643072	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	34	181	0	ENST00000354552.3:c.605+2T>C		p.X202_splice	ENST00000354552	NM_182909.2	202		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43117.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTACCTTT	NONE	.	.	.	.	.	ENSP00000346560	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354552	Transcript	.	.	ENSG00000168386	24589	.	.	HIGH	4/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FIL1L_HUMAN	FILIP1L	HGNC	C9JYJ6_HUMAN	.	UPI00001B24B2	SNV	FILIP1L,splice_donor_variant,,ENST00000398326,;FILIP1L,splice_donor_variant,,ENST00000354552,;FILIP1L,splice_donor_variant,,ENST00000331335,;CMSS1,intron_variant,,ENST00000463526,;CMSS1,intron_variant,,ENST00000421999,;CMSS1,intron_variant,,ENST00000496116,;CMSS1,intron_variant,,ENST00000491299,;	.	181	181	SUCCESS
CTBP1	1487	.	GRCh37	4	1235166	1235166	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	67	65	0	ENST00000290921.6:c.41-3041T>A		p.*14*	ENST00000290921	NM_001328.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3348.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAAAGCTT	NONE	.	.	.	.	.	ENSP00000290921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290921	Transcript	.	.	ENSG00000159692	2494	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTBP1_HUMAN	CTBP1	HGNC	.	.	UPI0000128637	SNV	CTBP1,5_prime_UTR_variant,,ENST00000513420,;CTBP1,5_prime_UTR_variant,,ENST00000382952,;CTBP1,5_prime_UTR_variant,,ENST00000510568,;CTBP1,5_prime_UTR_variant,,ENST00000515399,;CTBP1,5_prime_UTR_variant,,ENST00000514210,;CTBP1,intron_variant,,ENST00000290921,;CTBP1,intron_variant,,ENST00000506180,;CTBP1,non_coding_transcript_exon_variant,,ENST00000515690,;CTBP1,intron_variant,,ENST00000514495,;	.	65	93	SUCCESS
FHDC1	85462	.	GRCh37	4	153896719	153896719	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	63	0	ENST00000260008.3:c.2276G>A	p.Ser759Asn	p.S759N	ENST00000260008	NM_033393.2	759	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS34081.1	2276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTAGCAGCG	NONE	.	.	hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213	.	.	ENSP00000427567	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000511601	Transcript	.	.	ENSG00000137460	29363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	tolerated(0.11)	.	FHDC1_HUMAN	FHDC1	HGNC	.	.	UPI00001D7673	SNV	FHDC1,missense_variant,p.Ser759Asn,ENST00000511601,;FHDC1,missense_variant,p.Ser759Asn,ENST00000260008,;	2464	63	73	SUCCESS
ASIC5	51802	.	GRCh37	4	156784657	156784657	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	96	0	ENST00000537611.2:c.290A>T	p.Glu97Val	p.E97V	ENST00000537611	NM_017419.2	97	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS3793.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTCAATG	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF126,Gene3D:2qtsA02,Pfam_domain:PF00858	.	.	ENSP00000442477	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000537611	Transcript	.	.	ENSG00000256394	17537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.37)	.	ASIC5_HUMAN	ASIC5	HGNC	.	.	UPI00000433EB	SNV	ASIC5,missense_variant,p.Glu97Val,ENST00000537611,;TDO2,intron_variant,,ENST00000506072,;TDO2,intron_variant,,ENST00000507590,;TDO2,intron_variant,,ENST00000503634,;TDO2,intron_variant,,ENST00000506181,;	337	96	100	SUCCESS
LAP3	51056	.	GRCh37	4	17579110	17579110	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775609370	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	12	0	ENST00000226299.4:c.22G>A	p.Ala8Thr	p.A8T	ENST00000226299	NM_015907.2	8	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS3422.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCGGCTGCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000226299	.	1/13	.	.	.	.	.	.	.	.	rs775609370	1/13	PASS	ENST00000226299	Transcript	.	.	ENSG00000002549	18449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated_low_confidence(0.13)	.	AMPL_HUMAN	LAP3	HGNC	.	.	UPI000014F97D	SNV	LAP3,missense_variant,p.Ala8Thr,ENST00000226299,;LAP3,upstream_gene_variant,,ENST00000606142,;LAP3,upstream_gene_variant,,ENST00000507960,;LAP3,non_coding_transcript_exon_variant,,ENST00000508497,;LAP3,non_coding_transcript_exon_variant,,ENST00000512397,;LAP3,upstream_gene_variant,,ENST00000509583,;	296	12	69	SUCCESS
HTT	3064	.	GRCh37	4	3224125	3224125	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764639811	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	56	1	ENST00000355072.5:c.7381C>T	p.Arg2461Cys	p.R2461C	ENST00000355072	NM_002111.6	2461	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS43206.1	7381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCGTACT	NONE	byFrequency	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	54/67	.	.	.	.	.	.	.	.	rs764639811	54/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Arg2461Cys,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	7526	57	59	SUCCESS
MRFAP1	93621	.	GRCh37	4	6642727	6642727	+	synonymous_variant	Silent	SNP	C	C	T	rs1443742205	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	81	92	0	ENST00000320912.4:c.138C>T	p.His46=	p.H46=	ENST00000320912	NM_001272053.1	46	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS3389.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCACGGGCG	NONE	.	.	hmmpanther:PTHR31324:SF1,hmmpanther:PTHR31324,Pfam_domain:PF15155	.	.	ENSP00000318352	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000320912	Transcript	.	.	ENSG00000179010	24549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOFA1_HUMAN	MRFAP1	HGNC	.	.	UPI000006F0BC	SNV	MRFAP1,synonymous_variant,p.%3D,ENST00000382581,;MRFAP1,synonymous_variant,p.%3D,ENST00000320912,;MRFAP1,synonymous_variant,p.%3D,ENST00000507420,;MRFAP1,non_coding_transcript_exon_variant,,ENST00000512914,;	791	92	106	SUCCESS
FRAS1	80144	.	GRCh37	4	79366872	79366872	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	21	142	0	ENST00000264895.6:c.5856+6G>C		p.X1952_splice	ENST00000264895	NM_025074.6	1952		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54771.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGACTTT	NONE	.	.	.	.	.	ENSP00000264895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	LOW	42/73	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Lys404Asn,ENST00000510944,;FRAS1,missense_variant,p.Lys1954Asn,ENST00000325942,;FRAS1,splice_region_variant,,ENST00000512123,;FRAS1,splice_region_variant,,ENST00000264895,;FRAS1,upstream_gene_variant,,ENST00000509802,;	.	143	139	SUCCESS
CLK4	57396	.	GRCh37	5	178050338	178050338	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	66	100	1	ENST00000316308.4:c.80A>G	p.His27Arg	p.H27R	ENST00000316308	NM_020666.2	27	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS4437.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGTGACTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058	.	.	ENSP00000316948	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.3)	.	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,missense_variant,p.His27Arg,ENST00000316308,;CLK4,missense_variant,p.His27Arg,ENST00000520957,;RN7SKP70,upstream_gene_variant,,ENST00000516655,;CLK4,upstream_gene_variant,,ENST00000522749,;CLK4,missense_variant,p.His27Arg,ENST00000522556,;CLK4,missense_variant,p.His27Arg,ENST00000522136,;CLK4,missense_variant,p.His27Arg,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000523013,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000520126,;CLK4,non_coding_transcript_exon_variant,,ENST00000520909,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,non_coding_transcript_exon_variant,,ENST00000520199,;	249	101	118	SUCCESS
PRKAA1	5562	.	GRCh37	5	40777637	40777637	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780617578	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	25	191	0	ENST00000397128.2:c.179G>A	p.Arg60Gln	p.R60Q	ENST00000397128	NM_006251.5	60	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3933.2	179	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCGATTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF81,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000346148	.	2/10	.	.	.	.	.	.	.	.	rs780617578	2/10	PASS	ENST00000354209	Transcript	.	.	ENSG00000132356	9376	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AAPK1_HUMAN	PRKAA1	HGNC	.	.	UPI00003529FB	SNV	PRKAA1,missense_variant,p.Arg51Gln,ENST00000296800,;PRKAA1,missense_variant,p.Arg60Gln,ENST00000397128,;PRKAA1,missense_variant,p.Arg60Gln,ENST00000354209,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000397006,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000511248,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000506652,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000509874,;	364	191	243	SUCCESS
SESN1	27244	.	GRCh37	6	109315748	109315748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	81	0	ENST00000436639.2:c.1037G>T	p.Arg346Leu	p.R346L	ENST00000436639	NM_014454.2	346	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5070.1	1037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCGACAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12474,hmmpanther:PTHR12474:SF3,Pfam_domain:PF04636	.	.	ENSP00000393762	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000436639	Transcript	.	.	ENSG00000080546	21595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0.02)	.	SESN1_HUMAN	SESN1	HGNC	.	.	UPI000002B36B	SNV	SESN1,missense_variant,p.Arg221Leu,ENST00000302071,;SESN1,missense_variant,p.Arg346Leu,ENST00000436639,;SESN1,missense_variant,p.Arg287Leu,ENST00000356644,;RP11-787I22.3,upstream_gene_variant,,ENST00000605885,;SESN1,non_coding_transcript_exon_variant,,ENST00000368971,;SESN1,upstream_gene_variant,,ENST00000520364,;	1783	81	49	SUCCESS
TTBK1	84630	.	GRCh37	6	43226802	43226802	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	9	65	0	ENST00000259750.4:c.1043G>C	p.Gly348Ala	p.G348A	ENST00000259750	NM_032538.1	348	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS34455.1	1043	MUTECT|MUSE|VARSCANS	.	GCCTGGGGACC	NONE	.	.	hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909	.	.	ENSP00000259750	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,missense_variant,p.Gly297Ala,ENST00000304139,;TTBK1,missense_variant,p.Gly348Ala,ENST00000259750,;	1126	65	104	SUCCESS
ABCC10	89845	.	GRCh37	6	43406411	43406411	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	16	37	0	ENST00000372530.4:c.2005G>A	p.Ala669Thr	p.A669T	ENST00000372530	NM_001198934.1	669	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS56430.1	2005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGCCACC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000361608	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(0.06)	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,missense_variant,p.Ala669Thr,ENST00000372530,;ABCC10,missense_variant,p.Ala225Thr,ENST00000372515,;ABCC10,missense_variant,p.Ala641Thr,ENST00000244533,;ABCC10,downstream_gene_variant,,ENST00000443426,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,upstream_gene_variant,,ENST00000469856,;	2220	37	95	SUCCESS
UFL1	23376	.	GRCh37	6	96986605	96986605	+	synonymous_variant	Silent	SNP	C	C	T	rs199861765	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	130	0	ENST00000369278.4:c.1077C>T	p.Ser359=	p.S359=	ENST00000369278	NM_015323.4	359	agC/agT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS5034.1	1077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGCGACAC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0	T:0.001	.	ENSP00000358283	T:0	10/19	.	.	.	.	.	.	.	.	rs199861765	10/19	PASS	ENST00000369278	Transcript	.	T:0.0002	ENSG00000014123	23039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	UFL1_HUMAN	UFL1	HGNC	B7ZAY8_HUMAN	.	UPI0000072D61	SNV	UFL1,synonymous_variant,p.%3D,ENST00000369278,;	1143	130	76	SUCCESS
ZNF777	27153	.	GRCh37	7	149152627	149152627	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	56	0	ENST00000247930.4:c.487G>C	p.Asp163His	p.D163H	ENST00000247930	NM_015694.2	163	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS43675.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTCCTTTT	NONE	.	.	.	.	.	ENSP00000247930	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000247930	Transcript	.	.	ENSG00000196453	22213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.07)	.	ZN777_HUMAN	ZNF777	HGNC	Q3KR11_HUMAN	.	UPI0000E9B152	SNV	ZNF777,missense_variant,p.Asp163His,ENST00000247930,;	811	56	66	SUCCESS
SP4	6671	.	GRCh37	7	21470288	21470288	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	91	139	0	ENST00000222584.3:c.1505G>C	p.Ser502Thr	p.S502T	ENST00000222584	NM_003112.3	502	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS5373.1	1505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGTGGTG	NONE	.	.	hmmpanther:PTHR23235:SF5,hmmpanther:PTHR23235	.	.	ENSP00000222584	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000222584	Transcript	.	.	ENSG00000105866	11209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.637)	.	deleterious(0.03)	.	SP4_HUMAN	SP4	HGNC	Q32M51_HUMAN	.	UPI000013C807	SNV	SP4,missense_variant,p.Ser502Thr,ENST00000222584,;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,;	1723	139	164	SUCCESS
SNX8	29886	.	GRCh37	7	2302995	2302995	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	39	0	ENST00000222990.3:c.785C>A	p.Ala262Glu	p.A262E	ENST00000222990	NM_013321.2	262	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS5331.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTGCACTG	NONE	.	.	hmmpanther:PTHR10555:SF15,hmmpanther:PTHR10555	.	.	ENSP00000222990	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000222990	Transcript	.	.	ENSG00000106266	14972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.11)	.	SNX8_HUMAN	SNX8	HGNC	C9JCB9_HUMAN,C9J8E6_HUMAN,C9J014_HUMAN,C9IYC5_HUMAN	.	UPI0000135B46	SNV	SNX8,missense_variant,p.Ala262Glu,ENST00000222990,;SNX8,downstream_gene_variant,,ENST00000435336,;SNX8,downstream_gene_variant,,ENST00000457286,;SNX8,downstream_gene_variant,,ENST00000435060,;SNX8,splice_region_variant,,ENST00000479689,;	828	39	35	SUCCESS
DFNA5	0	.	GRCh37	7	24784360	24784360	+	synonymous_variant	Silent	SNP	C	C	T	rs191022542	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	40	0	ENST00000342947.3:c.225G>A	p.Ser75=	p.S75=	ENST00000342947	NM_004403.2	75	tcG/tcA	0	.	T:0	.	T:0.0014	.	T	S	protein_coding	YES	CCDS5389.1	225	MUTECT|MUSE	.	AAGTCCGACTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	T:0	.	ENSP00000339587	T:0	3/10	.	.	.	.	.	.	.	.	rs191022542	3/10	PASS	ENST00000342947	Transcript	.	T:0.0002	ENSG00000105928	2810	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,synonymous_variant,p.%3D,ENST00000409775,;DFNA5,synonymous_variant,p.%3D,ENST00000342947,;DFNA5,5_prime_UTR_variant,,ENST00000414428,;DFNA5,5_prime_UTR_variant,,ENST00000545231,;DFNA5,5_prime_UTR_variant,,ENST00000419307,;DFNA5,5_prime_UTR_variant,,ENST00000409970,;DFNA5,non_coding_transcript_exon_variant,,ENST00000473990,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;DFNA5,upstream_gene_variant,,ENST00000411476,;	651	40	45	SUCCESS
BBS9	27241	.	GRCh37	7	33545255	33545255	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	32	0	ENST00000242067.6:c.2297del	p.Leu766TrpfsTer15	p.L766Wfs*15	ENST00000242067	NM_198428.2	766	Ttg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS43566.1	2296	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGAATTGGTA	NONE	.	.	Pfam_domain:PF14728,hmmpanther:PTHR20991:SF0,hmmpanther:PTHR20991	.	.	ENSP00000242067	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000242067	Transcript	.	.	ENSG00000122507	30000	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTHB1_HUMAN	BBS9	HGNC	C9JRR5_HUMAN,C9JJ08_HUMAN	.	UPI000020ED57	deletion	BBS9,frameshift_variant,p.Leu766TrpfsTer15,ENST00000242067,;BBS9,frameshift_variant,p.Leu333TrpfsTer15,ENST00000434373,;BBS9,frameshift_variant,p.Leu726TrpfsTer15,ENST00000350941,;BBS9,frameshift_variant,p.Leu731TrpfsTer15,ENST00000396127,;BBS9,frameshift_variant,p.Leu761TrpfsTer15,ENST00000355070,;BBS9,frameshift_variant,p.Leu731TrpfsTer15,ENST00000354265,;BBS9,non_coding_transcript_exon_variant,,ENST00000489708,;BBS9,splice_region_variant,,ENST00000433714,;BBS9,splice_region_variant,,ENST00000495426,;	2817	32	26	SUCCESS
DCSTAMP	81501	.	GRCh37	8	105361092	105361092	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	24	118	0	ENST00000297581.2:c.312G>T	p.Gly104=	p.G104=	ENST00000297581	NM_030788.3	104	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6301.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGATCGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	.	.	ENSP00000297581	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297581	Transcript	.	.	ENSG00000164935	18549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCSTP_HUMAN	DCSTAMP	HGNC	.	.	UPI000003BCB5	SNV	DCSTAMP,synonymous_variant,p.%3D,ENST00000297581,;DCSTAMP,synonymous_variant,p.%3D,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	361	118	146	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110495324	110495324	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	101	0	ENST00000378402.5:c.9566T>A	p.Val3189Glu	p.V3189E	ENST00000378402	NM_177531.4	3189	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47911.1	9566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTGGATT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	.	.	ENSP00000367655	.	57/78	.	.	.	.	.	.	.	.	.	57/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Val117Glu,ENST00000526472,;PKHD1L1,missense_variant,p.Val3189Glu,ENST00000378402,;	9670	101	129	SUCCESS
ATAD2	29028	.	GRCh37	8	124361670	124361670	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	30	48	0	ENST00000287394.5:c.1661C>T	p.Thr554Ile	p.T554I	ENST00000287394	NM_014109.3	554	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS6343.1	1661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGTGGAA	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000287394	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Thr554Ile,ENST00000287394,;ATAD2,intron_variant,,ENST00000521903,;MIR548D1,downstream_gene_variant,,ENST00000384971,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;DUTP2,upstream_gene_variant,,ENST00000519164,;	1769	48	57	SUCCESS
DGAT1	8694	.	GRCh37	8	145540267	145540267	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs782605643	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	36	33	0	ENST00000528718.1:n.560G>A		p.*187*	ENST00000528718		473		0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS6420.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACGTACA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF7,Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500231	.	.	ENSP00000332258	.	17/17	.	.	.	.	.	.	.	.	rs782605643	17/17	PASS	ENST00000332324	Transcript	1	.	ENSG00000185000	2843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	deleterious(0.04)	.	DGAT1_HUMAN	DGAT1	HGNC	Q9BRH5_HUMAN	.	UPI0000061DF4	SNV	DGAT1,missense_variant,p.Val473Ile,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528838,;HSF1,downstream_gene_variant,,ENST00000400780,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,non_coding_transcript_exon_variant,,ENST00000526479,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527438,;HSF1,downstream_gene_variant,,ENST00000533130,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000531447,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,non_coding_transcript_exon_variant,,ENST00000528718,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000532338,;DGAT1,downstream_gene_variant,,ENST00000527885,;HSF1,downstream_gene_variant,,ENST00000527328,;	1691	33	63	SUCCESS
CPA6	57094	.	GRCh37	8	68658311	68658311	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs778807405	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	81	0	ENST00000297770.4:c.54C>A	p.Cys18Ter	p.C18*	ENST00000297770	NM_020361.4	18	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS6200.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGCAAAG	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11705:SF18,hmmpanther:PTHR11705	.	.	ENSP00000297770	.	1/11	.	.	.	.	.	.	.	.	rs778807405	1/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,stop_gained,p.Cys18Ter,ENST00000518549,;CPA6,stop_gained,p.Cys18Ter,ENST00000297770,;CPA6,5_prime_UTR_variant,,ENST00000297769,;CPA6,stop_gained,p.Cys18Ter,ENST00000479862,;	270	81	71	SUCCESS
ABCA1	19	.	GRCh37	9	107547843	107547843	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	78	0	ENST00000374736.3:c.6479G>C	p.Gly2160Ala	p.G2160A	ENST00000374736	NM_005502.3	2160	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS6762.1	6479	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTCCAAAG	NONE	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229	.	.	ENSP00000363868	.	49/50	.	.	.	.	.	.	.	.	.	49/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.51)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Gly2160Ala,ENST00000374736,;	6874	79	54	SUCCESS
GOLGA2	2801	.	GRCh37	9	131028284	131028284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	85	0	ENST00000421699.2:c.616C>T	p.His206Tyr	p.H206Y	ENST00000421699	NM_004486.4	206	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS6896.2	616	MUTECT|MUSE	.	TTGGTGGCATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF45	.	.	ENSP00000416097	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000421699	Transcript	.	.	ENSG00000167110	4425	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.092)	.	deleterious(0)	.	GOGA2_HUMAN	GOLGA2	HGNC	Q5PXD5_HUMAN	.	UPI0000D4C11A	SNV	GOLGA2,missense_variant,p.His194Tyr,ENST00000609374,;GOLGA2,missense_variant,p.His139Tyr,ENST00000458730,;GOLGA2,missense_variant,p.His206Tyr,ENST00000421699,;GOLGA2,missense_variant,p.His233Tyr,ENST00000450617,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000490257,;GOLGA2,upstream_gene_variant,,ENST00000468488,;GOLGA2,upstream_gene_variant,,ENST00000470630,;GOLGA2,upstream_gene_variant,,ENST00000461031,;	629	85	36	SUCCESS
MPDZ	8777	.	GRCh37	9	13109010	13109010	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	28	49	0	ENST00000319217.7:c.5991A>T	p.Leu1997Phe	p.L1997F	ENST00000319217	NM_001261406.1	1997	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS47951.1	5904	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTAAGCC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF10,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000439807	.	45/46	.	.	.	.	.	.	.	.	.	45/46	PASS	ENST00000541718	Transcript	.	.	ENSG00000107186	7208	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	MPDZ_HUMAN	MPDZ	HGNC	.	.	UPI00015367D3	SNV	MPDZ,missense_variant,p.Leu538Phe,ENST00000438511,;MPDZ,missense_variant,p.Leu1968Phe,ENST00000381022,;MPDZ,missense_variant,p.Leu1964Phe,ENST00000447879,;MPDZ,missense_variant,p.Leu933Phe,ENST00000545857,;MPDZ,missense_variant,p.Leu231Phe,ENST00000541093,;MPDZ,missense_variant,p.Leu1997Phe,ENST00000319217,;MPDZ,missense_variant,p.Leu2011Phe,ENST00000546205,;MPDZ,missense_variant,p.Leu1997Phe,ENST00000381015,;MPDZ,missense_variant,p.Leu1935Phe,ENST00000536827,;MPDZ,missense_variant,p.Leu856Phe,ENST00000538841,;MPDZ,missense_variant,p.Leu1968Phe,ENST00000541718,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,non_coding_transcript_exon_variant,,ENST00000381017,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;	6126	49	53	SUCCESS
PHYHD1	254295	.	GRCh37	9	131696337	131696337	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs762452242	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	46	0	ENST00000372592.3:c.316G>A	p.Ala106Thr	p.A106T	ENST00000372592	NM_001100876.1	106	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6914.1	316	MUTECT|MUSE	.	GCCACGGTGAG	NONE	.	.	hmmpanther:PTHR20883,Pfam_domain:PF05721,Gene3D:2.60.120.620,Superfamily_domains:SSF51197	.	.	ENSP00000309515	.	6/12	.	.	.	.	.	.	.	.	rs762452242	6/12	PASS	ENST00000308941	Transcript	.	.	ENSG00000175287	23396	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.626)	.	deleterious(0.01)	.	PHYD1_HUMAN	PHYHD1	HGNC	.	.	UPI0000140899	SNV	PHYHD1,missense_variant,p.Ala106Thr,ENST00000421063,;PHYHD1,missense_variant,p.Ala106Thr,ENST00000308941,;PHYHD1,missense_variant,p.Ala106Thr,ENST00000426694,;PHYHD1,missense_variant,p.Ala106Thr,ENST00000372592,;PHYHD1,missense_variant,p.Ala12Thr,ENST00000442837,;PHYHD1,missense_variant,p.Ala106Thr,ENST00000353176,;PHYHD1,downstream_gene_variant,,ENST00000419552,;PHYHD1,upstream_gene_variant,,ENST00000419872,;PHYHD1,missense_variant,p.Ala106Thr,ENST00000412476,;PHYHD1,splice_region_variant,,ENST00000424503,;PHYHD1,splice_region_variant,,ENST00000451000,;	736	46	30	SUCCESS
SEC16A	9919	.	GRCh37	9	139370175	139370175	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	32	63	0	ENST00000313050.7:c.1893G>T	p.Val631=	p.V631=	ENST00000313050	NM_014866.1	631	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55351.1	1893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCACGTT	NONE	.	.	hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7	.	.	ENSP00000325827	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000313050	Transcript	.	.	ENSG00000148396	29006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SEC16A	HGNC	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN	.	UPI0000F0888B	SNV	SEC16A,synonymous_variant,p.%3D,ENST00000290037,;SEC16A,synonymous_variant,p.%3D,ENST00000313050,;SEC16A,synonymous_variant,p.%3D,ENST00000431893,;SEC16A,synonymous_variant,p.%3D,ENST00000371706,;	1967	63	44	SUCCESS
KLHL9	55958	.	GRCh37	9	21335000	21335000	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	16	0	ENST00000359039.4:c.-142C>T		p.*48*	ENST00000359039				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6503.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGGCCACG	NONE	.	.	.	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,5_prime_UTR_variant,,ENST00000359039,;KLHL9,intron_variant,,ENST00000537938,;	380	16	20	SUCCESS
KLHL9	55958	.	GRCh37	9	21335001	21335001	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	16	0	ENST00000359039.4:c.-143G>T		p.*48*	ENST00000359039				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6503.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGCCACGC	NONE	.	.	.	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,5_prime_UTR_variant,,ENST00000359039,;KLHL9,intron_variant,,ENST00000537938,;	379	16	20	SUCCESS
ZNF658	26149	.	GRCh37	9	40772354	40772354	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	39	170	0	ENST00000602553.1:c.2921C>A	p.Thr974Lys	p.T974K	ENST00000602553		974	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS35023.1	2921	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGAACGTTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000473484	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000602553	Transcript	.	.	ENSG00000196409	25226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.439)	.	tolerated(0.18)	.	ZN658_HUMAN	ZNF658	HGNC	B3KNB1_HUMAN	.	UPI000046D388	SNV	ZNF658,missense_variant,p.Thr974Lys,ENST00000377626,;ZNF658,missense_variant,p.Thr974Lys,ENST00000602553,;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;	3216	170	58	SUCCESS
WNK2	65268	.	GRCh37	9	96051838	96051838	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	18	0	ENST00000297954.4:c.4913A>G	p.Asp1638Gly	p.D1638G	ENST00000297954	NM_001282394.1	1638	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	.	4913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGACCTGG	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Asp1597Gly,ENST00000432730,;WNK2,missense_variant,p.Asp1213Gly,ENST00000427277,;WNK2,missense_variant,p.Asp1250Gly,ENST00000349097,;WNK2,missense_variant,p.Asp1205Gly,ENST00000411624,;WNK2,missense_variant,p.Asp1638Gly,ENST00000297954,;WNK2,missense_variant,p.Asp124Gly,ENST00000453718,;WNK2,missense_variant,p.Asp398Gly,ENST00000448251,;WNK2,missense_variant,p.Asp1601Gly,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	4913	18	15	SUCCESS
DCAF8L2	347442	.	GRCh37	X	27765469	27765469	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	58	82	0	ENST00000451261.2:c.457C>T	p.Pro153Ser	p.P153S	ENST00000451261	NM_001136533.1	153	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS59162.1	457	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTCCACAA	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF36	.	.	ENSP00000462745	.	5/5	.	.	.	.	.	.	.	.	COSM1119627	5/5	PASS	ENST00000451261	Transcript	.	.	ENSG00000189186	31811	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.004)	.	tolerated(0.67)	1	DC8L2_HUMAN	DCAF8L2	HGNC	J3QRI4_HUMAN	.	UPI000183CBD9	SNV	DCAF8L2,missense_variant,p.Pro153Ser,ENST00000451261,;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;AC107613.1,non_coding_transcript_exon_variant,,ENST00000545306,;	856	82	65	SUCCESS
LDB1	8861	.	GRCh37	10	103870721	103870721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	92	0	ENST00000425280.1:c.257A>G	p.Asp86Gly	p.D86G	ENST00000425280	NM_001113407.1	86	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS44472.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGTCACAC	NONE	.	.	hmmpanther:PTHR10378:SF7,hmmpanther:PTHR10378,Pfam_domain:PF01803	.	.	ENSP00000392466	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000425280	Transcript	.	.	ENSG00000198728	6532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0)	.	LDB1_HUMAN	LDB1	HGNC	.	.	UPI00001F95EA	SNV	LDB1,missense_variant,p.Asp86Gly,ENST00000425280,;LDB1,missense_variant,p.Asp50Gly,ENST00000361198,;LDB1,non_coding_transcript_exon_variant,,ENST00000461873,;LDB1,non_coding_transcript_exon_variant,,ENST00000490751,;	600	92	88	SUCCESS
MYO3A	53904	.	GRCh37	10	26414368	26414368	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	33	157	0	ENST00000265944.5:c.1945G>T	p.Ala649Ser	p.A649S	ENST00000265944	NM_017433.4	649	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS7148.1	1945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGCTCTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	19/35	.	.	.	.	.	.	.	.	COSM917279	19/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.838)	.	deleterious(0)	1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Ala649Ser,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	2111	158	122	SUCCESS
CDHR1	92211	.	GRCh37	10	85971460	85971460	+	synonymous_variant	Silent	SNP	T	T	A	rs779290074	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	23	81	0	ENST00000372117.3:c.1542T>A	p.Thr514=	p.T514=	ENST00000372117	NM_033100.3	514	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7372.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTGGGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	14/17	.	.	.	.	.	.	.	.	rs779290074	14/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,synonymous_variant,p.%3D,ENST00000440770,;CDHR1,synonymous_variant,p.%3D,ENST00000372117,;CDHR1,synonymous_variant,p.%3D,ENST00000332904,;CDHR1,upstream_gene_variant,,ENST00000459673,;	1645	81	84	SUCCESS
KIF20B	9585	.	GRCh37	10	91522476	91522476	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	69	0	ENST00000371728.3:c.4873A>G	p.Ile1625Val	p.I1625V	ENST00000371728	NM_001284259.1	1625	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7407.1	4753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGATTCAA	NONE	.	.	hmmpanther:PTHR23165	.	.	ENSP00000260753	.	29/33	.	.	.	.	.	.	.	.	.	29/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,missense_variant,p.Ile1625Val,ENST00000371728,;KIF20B,missense_variant,p.Ile1655Val,ENST00000416354,;KIF20B,missense_variant,p.Ile1585Val,ENST00000260753,;KIF20B,missense_variant,p.Ile1625Val,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	4825	69	62	SUCCESS
SORL1	6653	.	GRCh37	11	121440944	121440944	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs747210518	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	70	0	ENST00000260197.7:c.3302A>G	p.Asn1101Ser	p.N1101S	ENST00000260197	NM_003105.5	1101	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8436.1	3302	MUTECT|MUSE	.	TGACAACGACT	NONE	byFrequency	.	PROSITE_profiles:PS50068,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000260197	.	23/48	.	.	.	.	.	.	.	.	rs747210518	23/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.148)	.	deleterious_low_confidence(0.01)	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,missense_variant,p.Asn45Ser,ENST00000525532,;SORL1,missense_variant,p.Asn1101Ser,ENST00000260197,;	3431	70	81	SUCCESS
MRGPRE	116534	.	GRCh37	11	3249346	3249346	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs531538794	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	35	0	ENST00000389832.5:c.684C>A	p.Phe228Leu	p.F228L	ENST00000389832		228	ttC/ttA	0	.	C:0	.	C:0	.	T	F/L	protein_coding	YES	.	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGAAGAG	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF26,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02108,Prints_domain:PR00237	C:0	.	ENSP00000393251	C:0	2/2	.	.	.	.	.	.	.	.	rs531538794	2/2	PASS	ENST00000436689	Transcript	.	C:0.0002	ENSG00000184350	30694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	C:0.001	tolerated(1)	.	MRGRE_HUMAN	MRGPRE	HGNC	.	.	UPI00001D78AA	SNV	MRGPRE,missense_variant,p.Phe227Leu,ENST00000436689,;MRGPRE,missense_variant,p.Phe228Leu,ENST00000389832,;AC109309.4,intron_variant,,ENST00000418995,;MRGPRG-AS1,downstream_gene_variant,,ENST00000420873,;MRGPRG-AS1,downstream_gene_variant,,ENST00000434798,;	991	35	29	SUCCESS
TRIM22	10346	.	GRCh37	11	5717446	5717446	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	80	0	ENST00000379965.3:c.-17G>A		p.*6*	ENST00000379965	NM_001199573.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41612.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGCCAAG	NONE	.	.	.	.	.	ENSP00000369299	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000379965	Transcript	.	.	ENSG00000132274	16379	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI22_HUMAN	TRIM22	HGNC	C9JIU5_HUMAN,C9J060_HUMAN	.	UPI0000074222	SNV	TRIM22,5_prime_UTR_variant,,ENST00000414641,;TRIM22,5_prime_UTR_variant,,ENST00000425490,;TRIM22,5_prime_UTR_variant,,ENST00000454828,;TRIM22,5_prime_UTR_variant,,ENST00000379965,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,non_coding_transcript_exon_variant,,ENST00000460454,;TRIM22,upstream_gene_variant,,ENST00000480395,;TRIM22,upstream_gene_variant,,ENST00000414897,;	261	80	84	SUCCESS
SLC22A10	387775	.	GRCh37	11	63059095	63059095	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	105	0	ENST00000332793.6:c.486A>T	p.Ile162=	p.I162=	ENST00000332793	NM_001039752.3	162	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS41661.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATAGGTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000327569	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000332793	Transcript	.	.	ENSG00000184999	18057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AA_HUMAN	SLC22A10	HGNC	B4DJY8_HUMAN	.	UPI0000D62620	SNV	SLC22A10,synonymous_variant,p.%3D,ENST00000544661,;SLC22A10,synonymous_variant,p.%3D,ENST00000332793,;SLC22A10,synonymous_variant,p.%3D,ENST00000526800,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,downstream_gene_variant,,ENST00000533176,;SLC22A10,synonymous_variant,p.%3D,ENST00000532724,;SLC22A10,synonymous_variant,p.%3D,ENST00000533483,;	488	105	111	SUCCESS
KAT5	10524	.	GRCh37	11	65482196	65482196	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	49	157	0	ENST00000377046.3:c.822G>T	p.Lys274Asn	p.K274N	ENST00000377046	NM_006388.3	274	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS8110.1	921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAGTGTCT	NONE	.	.	hmmpanther:PTHR10615,Superfamily_domains:SSF55729	.	.	ENSP00000340330	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000341318	Transcript	.	.	ENSG00000172977	5275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0.05)	.	KAT5_HUMAN	KAT5	HGNC	E9PMG8_HUMAN,E9PJI1_HUMAN	.	UPI00001D3EFB	SNV	KAT5,missense_variant,p.Lys255Asn,ENST00000530446,;KAT5,missense_variant,p.Lys268Asn,ENST00000531880,;KAT5,missense_variant,p.Lys222Asn,ENST00000352980,;KAT5,missense_variant,p.Lys307Asn,ENST00000341318,;KAT5,missense_variant,p.Lys63Asn,ENST00000534650,;KAT5,missense_variant,p.Lys274Asn,ENST00000377046,;KAT5,downstream_gene_variant,,ENST00000528198,;KAT5,upstream_gene_variant,,ENST00000533596,;RNASEH2C,downstream_gene_variant,,ENST00000527610,;RNASEH2C,downstream_gene_variant,,ENST00000528220,;RNASEH2C,downstream_gene_variant,,ENST00000308418,;KAT5,downstream_gene_variant,,ENST00000530605,;KAT5,downstream_gene_variant,,ENST00000534104,;KAT5,downstream_gene_variant,,ENST00000534681,;KAT5,non_coding_transcript_exon_variant,,ENST00000534293,;KAT5,downstream_gene_variant,,ENST00000525204,;KAT5,non_coding_transcript_exon_variant,,ENST00000527544,;RNASEH2C,downstream_gene_variant,,ENST00000531596,;RNASEH2C,downstream_gene_variant,,ENST00000533698,;KAT5,upstream_gene_variant,,ENST00000525600,;KAT5,upstream_gene_variant,,ENST00000533441,;KAT5,downstream_gene_variant,,ENST00000532042,;RNASEH2C,downstream_gene_variant,,ENST00000534482,;	1155	157	158	SUCCESS
RAB6A	5870	.	GRCh37	11	73431941	73431941	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	29	109	0	ENST00000336083.3:c.133A>G	p.Thr45Ala	p.T45A	ENST00000336083	NM_198896.1	45	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8223.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTTGCCT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF421,hmmpanther:PTHR24073,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000311449	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000310653	Transcript	.	.	ENSG00000175582	9786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0)	.	RAB6A_HUMAN	RAB6A	HGNC	Q9UL30_HUMAN	.	UPI000002B21A	SNV	RAB6A,missense_variant,p.Thr38Ala,ENST00000541973,;RAB6A,missense_variant,p.Thr45Ala,ENST00000336083,;RAB6A,missense_variant,p.Thr37Ala,ENST00000400470,;RAB6A,missense_variant,p.Thr45Ala,ENST00000310653,;RAB6A,missense_variant,p.Thr12Ala,ENST00000536566,;RAB6A,missense_variant,p.Thr45Ala,ENST00000541588,;RAB6A,intron_variant,,ENST00000540771,;RP11-456I15.2,upstream_gene_variant,,ENST00000538624,;RAB6A,missense_variant,p.Thr45Ala,ENST00000537446,;RAB6A,missense_variant,p.Thr45Ala,ENST00000545625,;	635	109	113	SUCCESS
NOS1	4842	.	GRCh37	12	117723945	117723945	+	synonymous_variant	Silent	SNP	C	C	T	rs946356254	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	147	0	ENST00000317775.6:c.1254G>A	p.Ser418=	p.S418=	ENST00000317775	NM_000620.4	418	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55890.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGCGAGGC	BUFFER|p.R415Q|c.1244G>A|4	.	.	Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Gene3D:3.90.340.10,Pfam_domain:PF02898,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	5/29	.	.	.	.	.	.	.	.	COSM1359118	5/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,synonymous_variant,p.%3D,ENST00000317775,;NOS1,synonymous_variant,p.%3D,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	1259	147	117	SUCCESS
DNAH10	196385	.	GRCh37	12	124414218	124414218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	108	0	ENST00000409039.3:c.12170T>C	p.Met4057Thr	p.M4057T	ENST00000409039	NM_207437.3	4057	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS9255.2	12170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATGGAAA	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000386770	.	71/78	.	.	.	.	.	.	.	.	.	71/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Met4057Thr,ENST00000409039,;DNAH10OS,3_prime_UTR_variant,,ENST00000514254,;RP11-380L11.4,upstream_gene_variant,,ENST00000602952,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,upstream_gene_variant,,ENST00000538983,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,non_coding_transcript_exon_variant,,ENST00000545078,;	12195	108	100	SUCCESS
HEBP1	50865	.	GRCh37	12	13139868	13139868	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	17	0	ENST00000014930.4:c.398+218A>G		p.*133*	ENST00000014930	NM_015987.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31749.1	.	RADIA|MUTECT|MUSE	.	ATCAATTTGGC	NONE	.	.	.	.	.	ENSP00000014930	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000014930	Transcript	.	.	ENSG00000013583	17176	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEBP1_HUMAN	HEBP1	HGNC	F5GWX2_HUMAN	.	UPI0000038D71	SNV	HEBP1,3_prime_UTR_variant,,ENST00000536942,;HEBP1,intron_variant,,ENST00000014930,;HEBP1,intron_variant,,ENST00000535636,;RP11-392P7.6,downstream_gene_variant,,ENST00000607894,;RP11-392P7.6,downstream_gene_variant,,ENST00000499948,;RP11-392P7.6,downstream_gene_variant,,ENST00000542078,;	.	17	13	SUCCESS
KMT2D	8085	.	GRCh37	12	49427419	49427419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	56	0	ENST00000301067.7:c.11069G>T	p.Gly3690Val	p.G3690V	ENST00000301067	NM_003482.3	3690	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS44873.1	11069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gly3690Val,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	11069	56	52	SUCCESS
KMT2D	8085	.	GRCh37	12	49427420	49427420	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	57	0	ENST00000301067.7:c.11068G>A	p.Gly3690Arg	p.G3690R	ENST00000301067	NM_003482.3	3690	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS44873.1	11068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCAGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gly3690Arg,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	11068	57	52	SUCCESS
TNFRSF1A	7132	.	GRCh37	12	6443355	6443355	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	112	0	ENST00000162749.2:c.95C>A	p.Pro32His	p.P32H	ENST00000162749	NM_001065.3	32	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS8542.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGAGGGACC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01918,hmmpanther:PTHR23097:SF110,hmmpanther:PTHR23097	.	.	ENSP00000162749	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000162749	Transcript	.	.	ENSG00000067182	11916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	TNR1A_HUMAN	TNFRSF1A	HGNC	J9PH39_HUMAN,F5H4T5_HUMAN	.	UPI000002CE11	SNV	TNFRSF1A,missense_variant,p.Pro32His,ENST00000366159,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000539372,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000536194,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000540022,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000162749,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000440083,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000535958,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000538363,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000437813,;TNFRSF1A,upstream_gene_variant,,ENST00000535038,;TNFRSF1A,upstream_gene_variant,,ENST00000543359,;TNFRSF1A,upstream_gene_variant,,ENST00000537842,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000543048,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000543995,;TNFRSF1A,intron_variant,,ENST00000534885,;TNFRSF1A,upstream_gene_variant,,ENST00000536717,;	395	112	111	SUCCESS
APAF1	317	.	GRCh37	12	99060130	99060130	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371633206	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	58	154	0	ENST00000551964.1:c.1357C>A	p.Leu453Ile	p.L453I	ENST00000551964	NM_181861.1	453	Ctt/Att	0	T:0	.	.	.	.	A	L/I	protein_coding	YES	CCDS9069.1	1357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCTTCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,PIRSF_domain:PIRSF037646	.	T:0.0001	ENSP00000448165	.	9/27	.	.	.	.	.	.	.	.	rs371633206,COSM2047226	9/27	PASS	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.345)	.	tolerated(0.25)	0,1	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.Leu453Ile,ENST00000357310,;APAF1,missense_variant,p.Leu442Ile,ENST00000550527,;APAF1,missense_variant,p.Leu453Ile,ENST00000339433,;APAF1,missense_variant,p.Leu453Ile,ENST00000547045,;APAF1,missense_variant,p.Leu442Ile,ENST00000359972,;APAF1,missense_variant,p.Leu453Ile,ENST00000549007,;APAF1,missense_variant,p.Leu453Ile,ENST00000551964,;APAF1,intron_variant,,ENST00000552268,;APAF1,intron_variant,,ENST00000333991,;APAF1,upstream_gene_variant,,ENST00000555047,;	2093	154	177	SUCCESS
VPS36	51028	.	GRCh37	13	52992155	52992155	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	69	0	ENST00000378060.4:c.877A>G	p.Met293Val	p.M293V	ENST00000378060	NM_016075.2	293	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9434.1	877	MUTECT|MUSE	.	CAGCATCTTGC	NONE	.	.	hmmpanther:PTHR13128:SF12,hmmpanther:PTHR13128,Pfam_domain:PF04157,Gene3D:1.10.10.10,Superfamily_domains:SSF46785,Superfamily_domains:SSF46785	.	.	ENSP00000367299	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000378060	Transcript	.	.	ENSG00000136100	20312	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.24)	.	VPS36_HUMAN	VPS36	HGNC	.	.	UPI000013CFE6	SNV	VPS36,missense_variant,p.Met293Val,ENST00000378060,;VPS36,upstream_gene_variant,,ENST00000462289,;VPS36,upstream_gene_variant,,ENST00000497149,;	905	69	63	SUCCESS
HS6ST3	266722	.	GRCh37	13	97484795	97484795	+	synonymous_variant	Silent	SNP	C	C	T	rs368146960	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	83	0	ENST00000376705.2:c.759C>T	p.Ser253=	p.S253=	ENST00000376705	NM_153456.3	253	agC/agT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS9481.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCGAGTG	NONE	byCluster	.	hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF3,Pfam_domain:PF03567,Superfamily_domains:SSF52540	.	T:0	ENSP00000365895	.	2/2	.	.	.	.	.	.	.	.	rs368146960	2/2	PASS	ENST00000376705	Transcript	.	.	ENSG00000185352	19134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H6ST3_HUMAN	HS6ST3	HGNC	B3KX95_HUMAN	.	UPI00001AF933	SNV	HS6ST3,synonymous_variant,p.%3D,ENST00000376705,;	783	83	86	SUCCESS
SLC25A47	283600	.	GRCh37	14	100789705	100789705	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	13	0	ENST00000361529.3:c.-47G>A		p.*16*	ENST00000361529	NM_207117.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9959.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAGCCCTC	NONE	.	.	.	.	.	ENSP00000354886	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000361529	Transcript	.	.	ENSG00000140107	20115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2547_HUMAN	SLC25A47	HGNC	G3V374_HUMAN	.	UPI000004ABFB	SNV	SLC25A47,5_prime_UTR_variant,,ENST00000557052,;SLC25A47,5_prime_UTR_variant,,ENST00000361529,;AL157871.1,upstream_gene_variant,,ENST00000583404,;RN7SL523P,upstream_gene_variant,,ENST00000484401,;	32	13	24	SUCCESS
APBA2	321	.	GRCh37	15	29398965	29398965	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	37	99	0	ENST00000558259.1:c.1860C>T	p.Ser620=	p.S620=	ENST00000558259	NM_005503.3	620	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10022.1	1860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCCATCAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000453293	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,synonymous_variant,p.%3D,ENST00000558259,;APBA2,synonymous_variant,p.%3D,ENST00000561069,;APBA2,synonymous_variant,p.%3D,ENST00000558402,;APBA2,synonymous_variant,p.%3D,ENST00000411764,;APBA2,synonymous_variant,p.%3D,ENST00000558330,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,downstream_gene_variant,,ENST00000382938,;	2459	99	117	SUCCESS
SPTBN5	51332	.	GRCh37	15	42158099	42158099	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	59	0	ENST00000320955.6:c.6825G>A		p.X2275_splice	ENST00000320955	NM_016642.3	2275	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS61599.1	6825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCTCCTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150	.	.	ENSP00000317790	.	39/68	.	.	.	.	.	.	.	.	.	39/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,synonymous_variant,p.%3D,ENST00000320955,;MIR4310,downstream_gene_variant,,ENST00000582950,;	7053	59	66	SUCCESS
HDC	3067	.	GRCh37	15	50534990	50534990	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778709808	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	67	0	ENST00000267845.3:c.1456C>T	p.Arg486Trp	p.R486W	ENST00000267845	NM_002112.3	486	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10134.1	1456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGAGGGC	NONE	byFrequency	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68	.	.	ENSP00000267845	.	12/12	.	.	.	.	.	.	.	.	rs778709808	12/12	PASS	ENST00000267845	Transcript	.	.	ENSG00000140287	4855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.339)	.	deleterious(0)	.	DCHS_HUMAN	HDC	HGNC	.	.	UPI0000128FB4	SNV	HDC,missense_variant,p.Arg453Trp,ENST00000543581,;HDC,missense_variant,p.Arg486Trp,ENST00000267845,;RN7SL494P,downstream_gene_variant,,ENST00000461517,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;	1859	67	58	SUCCESS
KRTAP9-2	83899	.	GRCh37	17	39383348	39383348	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1340635882	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	136	1	ENST00000377721.3:c.442G>A	p.Ala148Thr	p.A148T	ENST00000377721	NM_031961.2	148	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32651.1	442	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF36	.	.	ENSP00000366950	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377721	Transcript	.	.	ENSG00000239886	16926	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.51)	.	KRA92_HUMAN	KRTAP9-2	HGNC	Q6ISF6_HUMAN	.	UPI000013CE13	SNV	KRTAP9-2,missense_variant,p.Ala132Thr,ENST00000455970,;KRTAP9-2,missense_variant,p.Ala148Thr,ENST00000377721,;	449	137	121	SUCCESS
NEURL4	84461	.	GRCh37	17	7230299	7230299	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	56	0	ENST00000399464.2:c.823G>C	p.Val275Leu	p.V275L	ENST00000399464	NM_032442.2	275	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS42251.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACCACCT	NONE	.	.	hmmpanther:PTHR12429:SF2,hmmpanther:PTHR12429	.	.	ENSP00000382390	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000399464	Transcript	.	.	ENSG00000215041	34410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.17)	.	NEUL4_HUMAN	NEURL4	HGNC	.	.	UPI000020081C	SNV	NEURL4,missense_variant,p.Val253Leu,ENST00000570460,;NEURL4,missense_variant,p.Val238Leu,ENST00000571887,;NEURL4,missense_variant,p.Val275Leu,ENST00000399464,;NEURL4,missense_variant,p.Val275Leu,ENST00000315614,;NEURL4,intron_variant,,ENST00000573186,;NEURL4,upstream_gene_variant,,ENST00000576485,;NEURL4,upstream_gene_variant,,ENST00000571508,;NEURL4,upstream_gene_variant,,ENST00000576966,;NEURL4,upstream_gene_variant,,ENST00000571243,;NEURL4,upstream_gene_variant,,ENST00000573651,;AC026954.6,upstream_gene_variant,,ENST00000429771,;	839	56	28	SUCCESS
TP53	7157	.	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs786201838	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	116	1	ENST00000269305.4:c.578A>G	p.His193Arg	p.H193R	ENST00000269305	NM_001126112.2	193	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS11118.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATGCTGA	SITE|p.H193R|c.578A>G|8,SITE|p.H193R|c.578A>G|89,SITE|p.H61R|c.182A>G|23,SITE|p.H193R|c.578A>G|21,SITE|p.H193R|c.578A>G|22,SITE|p.H100R|c.299A>G|22,SITE|p.H193R|c.578A>G|5,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.H193fs*16|c.577_578insN|3,CODON|p.H193L|c.578A>T|8,CODON|p.H61P|c.182A>C|4,CODON|p.H100L|c.299A>T|8,CODON|p.H193L|c.578A>T|8,CODON|p.H100P|c.299A>C|4,CODON|p.H193P|c.578A>C|4,CODON|p.H193L|c.578A>T|3,CODON|p.H193L|c.578A>T|3,CODON|p.H193P|c.578A>C|16,CODON|p.H193P|c.578A>C|3,CODON|p.H193L|c.578A>T|37,CODON|p.H61L|c.182A>T|10,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM083194,CM951225,TP53_g.12647A>T,TP53_g.12647A>C,TP53_g.12647A>G,COSM10742,COSM11066,COSM43833,COSM308307,COSM99919,COSM131458,COSM131459,COSM99916,COSM308306,COSM99917,COSM308308,COSM131461,COSM3820719,COSM3970355,COSM3732881,COSM1740322,COSM2744772,COSM3970354,COSM308309,COSM131460,COSM99918	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.His193Arg,ENST00000413465,;TP53,missense_variant,p.His193Arg,ENST00000420246,;TP53,missense_variant,p.His193Arg,ENST00000269305,;TP53,missense_variant,p.His61Arg,ENST00000509690,;TP53,missense_variant,p.His193Arg,ENST00000359597,;TP53,missense_variant,p.His100Arg,ENST00000514944,;TP53,missense_variant,p.His193Arg,ENST00000445888,;TP53,missense_variant,p.His193Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	768	117	65	SUCCESS
PALM3	342979	.	GRCh37	19	14167259	14167259	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs998902486	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	75	0	ENST00000340790.4:c.336G>T	p.Arg112Ser	p.R112S	ENST00000340790	NM_001145028.1	112	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46001.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCTGCC	NONE	.	.	hmmpanther:PTHR10498:SF6,hmmpanther:PTHR10498	.	.	ENSP00000344996	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000340790	Transcript	.	.	ENSG00000187867	33274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.02)	.	PALM3_HUMAN	PALM3	HGNC	K7EKN5_HUMAN	.	UPI0001662AC1	SNV	PALM3,missense_variant,p.Arg112Ser,ENST00000340790,;PALM3,missense_variant,p.Arg61Ser,ENST00000589048,;IL27RA,downstream_gene_variant,,ENST00000263379,;PALM3,non_coding_transcript_exon_variant,,ENST00000586368,;	336	75	54	SUCCESS
LHB	3972	.	GRCh37	19	49519808	49519808	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	79	0	ENST00000221421.2:c.179C>A	p.Thr60Asn	p.T60N	ENST00000221421	NM_000894.2	60	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS12748.1	179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGTGGGG	NONE	.	.	hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12,PROSITE_patterns:PS00261,Gene3D:2.10.90.10,Pfam_domain:PF00007,SMART_domains:SM00068,Superfamily_domains:SSF57501	.	.	ENSP00000221421	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000221421	Transcript	1	.	ENSG00000104826	6584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0)	.	LSHB_HUMAN	LHB	HGNC	Q8WXL0_HUMAN	.	UPI00000378AB	SNV	LHB,missense_variant,p.Thr60Asn,ENST00000221421,;RUVBL2,downstream_gene_variant,,ENST00000595090,;RUVBL2,downstream_gene_variant,,ENST00000413176,;RUVBL2,downstream_gene_variant,,ENST00000601968,;CTB-60B18.10,downstream_gene_variant,,ENST00000600007,;RUVBL2,downstream_gene_variant,,ENST00000595002,;RUVBL2,downstream_gene_variant,,ENST00000596247,;RUVBL2,downstream_gene_variant,,ENST00000221413,;RUVBL2,downstream_gene_variant,,ENST00000594338,;	179	79	82	SUCCESS
CACNG7	59284	.	GRCh37	19	54417766	54417766	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	29	129	0	ENST00000222212.2:c.209G>T	p.Gly70Val	p.G70V	ENST00000222212	NM_031896.4	70	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12868.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGTCGCT	NONE	.	.	Pfam_domain:PF00822,hmmpanther:PTHR12107:SF3,hmmpanther:PTHR12107	.	.	ENSP00000375647	.	3/6	.	.	.	.	.	.	.	.	COSM1396187,COSM1326192	3/6	PASS	ENST00000391767	Transcript	.	.	ENSG00000105605	13626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.992)	.	deleterious(0.01)	1,1	CCG7_HUMAN	CACNG7	HGNC	.	.	UPI00000010F1	SNV	CACNG7,missense_variant,p.Gly70Val,ENST00000391766,;CACNG7,missense_variant,p.Gly70Val,ENST00000391767,;CACNG7,missense_variant,p.Gly70Val,ENST00000222212,;CACNG7,intron_variant,,ENST00000468076,;	421	129	120	SUCCESS
ZNF559	84527	.	GRCh37	19	9453375	9453375	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	43	139	0	ENST00000393883.2:c.1248A>C	p.Lys416Asn	p.K416N	ENST00000393883	NM_001202412.1	416	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS12211.1	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAAGCCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF77,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000377461	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393883	Transcript	.	.	ENSG00000188321	28197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ZN559_HUMAN	ZNF559	HGNC	S4R3F2_HUMAN,K7ERK9_HUMAN,B4DP29_HUMAN	.	UPI00000733B2	SNV	ZNF559,missense_variant,p.Lys336Asn,ENST00000538743,;ZNF559,missense_variant,p.Lys416Asn,ENST00000393883,;ZNF559,missense_variant,p.Lys416Asn,ENST00000603380,;ZNF559,missense_variant,p.Lys480Asn,ENST00000587557,;ZNF559,missense_variant,p.Lys402Asn,ENST00000605750,;ZNF559,3_prime_UTR_variant,,ENST00000317221,;ZNF177,intron_variant,,ENST00000602856,;ZNF559,intron_variant,,ENST00000586255,;ZNF559-ZNF177,intron_variant,,ENST00000603656,;ZNF177,intron_variant,,ENST00000602738,;ZNF559,intron_variant,,ENST00000591652,;ZNF559-ZNF177,intron_variant,,ENST00000446085,;ZNF559-ZNF177,intron_variant,,ENST00000541595,;ZNF559,downstream_gene_variant,,ENST00000592896,;ZNF559,downstream_gene_variant,,ENST00000589208,;ZNF559,downstream_gene_variant,,ENST00000585377,;ZNF559,downstream_gene_variant,,ENST00000592504,;ZNF559,downstream_gene_variant,,ENST00000592298,;ZNF559,downstream_gene_variant,,ENST00000588124,;ZNF559,downstream_gene_variant,,ENST00000585352,;CTC-325H20.2,upstream_gene_variant,,ENST00000592371,;ZNF559-ZNF177,intron_variant,,ENST00000605301,;ZNF559-ZNF177,intron_variant,,ENST00000605522,;ZNF559-ZNF177,intron_variant,,ENST00000605471,;ZNF559-ZNF177,intron_variant,,ENST00000603099,;ZNF559-ZNF177,intron_variant,,ENST00000605775,;ZNF559-ZNF177,intron_variant,,ENST00000603974,;ZNF559-ZNF177,intron_variant,,ENST00000604886,;ZNF559-ZNF177,intron_variant,,ENST00000605093,;ZNF559-ZNF177,intron_variant,,ENST00000593242,;ZNF559-ZNF177,intron_variant,,ENST00000604543,;ZNF559-ZNF177,intron_variant,,ENST00000605071,;ZNF559-ZNF177,intron_variant,,ENST00000603024,;ZNF559-ZNF177,intron_variant,,ENST00000605006,;	1896	139	82	SUCCESS
HAPLN2	60484	.	GRCh37	1	156594411	156594411	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	28	0	ENST00000255039.1:c.575A>G	p.Asp192Gly	p.D192G	ENST00000255039	NM_021817.2	192	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1148.1	575	MUTECT|MUSE	.	TCTGGACTGGT	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF8,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436,Prints_domain:PR01265	.	.	ENSP00000255039	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000255039	Transcript	.	.	ENSG00000132702	17410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	HPLN2_HUMAN	HAPLN2	HGNC	Q5T3J1_HUMAN,Q5T3J0_HUMAN	.	UPI00000012E0	SNV	HAPLN2,missense_variant,p.Asp192Gly,ENST00000255039,;HAPLN2,downstream_gene_variant,,ENST00000456112,;HAPLN2,non_coding_transcript_exon_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000482204,;HAPLN2,downstream_gene_variant,,ENST00000487988,;	982	28	49	SUCCESS
CEP350	9857	.	GRCh37	1	180062616	180062617	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	303	134	241	0	ENST00000367607.3:c.7376_7377insT	p.Lys2459AsnfsTer5	p.K2459Nfs*5	ENST00000367607	NM_014810.4	2459	aag/aaTg	0	.	.	.	.	.	T	K/NX	protein_coding	YES	CCDS1336.1	7376-7377	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCAAGTCCC	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	34/38	.	.	.	.	.	.	.	.	.	34/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	insertion	CEP350,frameshift_variant,p.Lys634AsnfsTer5,ENST00000429851,;CEP350,frameshift_variant,p.Lys2459AsnfsTer5,ENST00000367607,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,downstream_gene_variant,,ENST00000484356,;CEP350,upstream_gene_variant,,ENST00000496440,;	7794-7795	241	437	SUCCESS
LAD1	3898	.	GRCh37	1	201351823	201351823	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	53	0	ENST00000391967.2:c.1431G>A	p.Leu477=	p.L477=	ENST00000391967	NM_005558.3	477	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1410.1	1431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCACAGGTT	NONE	.	.	hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144	.	.	ENSP00000375829	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000391967	Transcript	.	.	ENSG00000159166	6472	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAD1_HUMAN	LAD1	HGNC	.	.	UPI000006CD59	SNV	LAD1,synonymous_variant,p.%3D,ENST00000391967,;LAD1,synonymous_variant,p.%3D,ENST00000367313,;LAD1,synonymous_variant,p.%3D,ENST00000503578,;TNNT2,upstream_gene_variant,,ENST00000509001,;LAD1,non_coding_transcript_exon_variant,,ENST00000488842,;LAD1,non_coding_transcript_exon_variant,,ENST00000475136,;	1733	53	52	SUCCESS
MIR320B2	100313769	.	GRCh37	1	224444769	224444769	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	385	133	364	1	ENST00000408479.1:n.75A>G		p.*25*	ENST00000408479				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1541.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCAGCTTTTCC	NONE	.	.	.	.	.	ENSP00000281701	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281701	Transcript	.	.	ENSG00000143748	8070	.	.	MODIFIER	18/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NVL_HUMAN	NVL	HGNC	Q96PA2_HUMAN	.	UPI0000073F3E	SNV	NVL,intron_variant,,ENST00000482491,;NVL,intron_variant,,ENST00000361463,;NVL,intron_variant,,ENST00000340871,;NVL,intron_variant,,ENST00000391875,;NVL,intron_variant,,ENST00000281701,;NVL,intron_variant,,ENST00000469968,;NVL,intron_variant,,ENST00000469075,;MIR320B2,mature_miRNA_variant,,ENST00000408479,;NVL,intron_variant,,ENST00000489194,;NVL,intron_variant,,ENST00000496393,;	.	366	519	SUCCESS
OBSCN	84033	.	GRCh37	1	228487681	228487681	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	27	0	ENST00000422127.1:c.11659+4937G>T		p.*3887*	ENST00000422127	NM_001098623.2	4525		0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS59204.1	13573	MUTECT|MUSE	.	CCGTGGAGTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	51/116	.	.	.	.	.	.	.	.	.	51/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,stop_gained,p.Glu1215Ter,ENST00000366707,;OBSCN,stop_gained,p.Glu1372Ter,ENST00000483539,;OBSCN,stop_gained,p.Glu4525Ter,ENST00000570156,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,non_coding_transcript_exon_variant,,ENST00000602685,;OBSCN,upstream_gene_variant,,ENST00000602832,;OBSCN,downstream_gene_variant,,ENST00000494839,;	13647	27	33	SUCCESS
C1orf94	84970	.	GRCh37	1	34643282	34643282	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	20	0	ENST00000488417.1:c.-109C>A		p.*37*	ENST00000488417	NM_001134734.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44108.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCCTCCC	NONE	.	.	.	.	.	ENSP00000435634	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,5_prime_UTR_variant,,ENST00000488417,;C1orf94,intron_variant,,ENST00000373374,;AC115286.1,upstream_gene_variant,,ENST00000408126,;	12	20	17	SUCCESS
MRPS15	64960	.	GRCh37	1	36923570	36923570	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376585999	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	101	0	ENST00000373116.5:c.398C>G	p.Ser133Cys	p.S133C	ENST00000373116	NM_031280.3	133	tCt/tGt	0	C:0	.	.	.	.	C	S/C	protein_coding	YES	CCDS411.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAGACAAG	NONE	.	.	Superfamily_domains:SSF47060,Pfam_domain:PF00312,Gene3D:1.10.287.10,hmmpanther:PTHR23321:SF26,hmmpanther:PTHR23321,HAMAP:MF_01343_B	.	C:0.0001	ENSP00000362208	.	6/8	.	.	.	.	.	.	.	.	rs376585999	6/8	PASS	ENST00000373116	Transcript	.	.	ENSG00000116898	14504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	RT15_HUMAN	MRPS15	HGNC	D3DPS9_HUMAN	.	UPI0000135287	SNV	MRPS15,missense_variant,p.Ser133Cys,ENST00000373116,;MRPS15,non_coding_transcript_exon_variant,,ENST00000462067,;MRPS15,non_coding_transcript_exon_variant,,ENST00000488606,;MRPS15,upstream_gene_variant,,ENST00000477040,;	560	101	117	SUCCESS
CYP4A22	284541	.	GRCh37	1	47609480	47609481	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	145	48	179	0	ENST00000371891.3:c.688dup	p.Cys230LeufsTer9	p.C230Lfs*9	ENST00000371891	NM_001010969.2	228	gtt/gTtt	0	.	.	.	.	.	T	V/VX	protein_coding	YES	CCDS30707.1	682-683	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTGGTTTTT	NONE	.	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360958	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	insertion	CYP4A22,frameshift_variant,p.Cys230LeufsTer9,ENST00000294337,;CYP4A22,frameshift_variant,p.Cys230LeufsTer9,ENST00000371891,;CYP4A22,intron_variant,,ENST00000371890,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,intron_variant,,ENST00000490948,;	713-714	179	193	SUCCESS
ITGB3BP	23421	.	GRCh37	1	63974243	63974243	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs969231213	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	96	250	0	ENST00000271002.10:c.6-2A>G		p.X2_splice	ENST00000271002	NM_014288.4	2		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55603.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACTACAAA	NONE	.	.	.	.	.	ENSP00000360133	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371092	Transcript	.	.	ENSG00000142856	6157	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPR_HUMAN	ITGB3BP	HGNC	D3DQ59_HUMAN	.	UPI0000470389	SNV	ITGB3BP,splice_acceptor_variant,,ENST00000371092,;ITGB3BP,splice_acceptor_variant,,ENST00000271002,;ITGB3BP,splice_acceptor_variant,,ENST00000283568,;ITGB3BP,splice_acceptor_variant,,ENST00000465781,;ITGB3BP,splice_acceptor_variant,,ENST00000478138,;ITGB3BP,splice_acceptor_variant,,ENST00000460251,;ITGB3BP,splice_acceptor_variant,,ENST00000460394,;ITGB3BP,splice_acceptor_variant,,ENST00000462285,;ITGB3BP,intron_variant,,ENST00000489863,;ITGB3BP,splice_acceptor_variant,,ENST00000489099,;	.	250	300	SUCCESS
DEPDC1	55635	.	GRCh37	1	68944871	68944874	+	frameshift_variant	Frame_Shift_Del	DEL	GTAA	GTAA	-	rs760374659	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	GTAA	GTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	112	52	198	0	ENST00000456315.2:c.2065_2068del	p.Leu689ArgfsTer11	p.L689Rfs*11	ENST00000456315	NM_001114120.1	689	TTACag/ag	0	.	.	.	.	.	-	LQ/X	protein_coding	YES	CCDS44159.1	2065-2068	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTCTGTAAGTAAG	NONE	byFrequency	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12	.	.	ENSP00000412292	.	10/12	.	.	.	.	.	.	.	.	rs760374659	10/12	PASS	ENST00000456315	Transcript	.	.	ENSG00000024526	22949	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	deletion	DEPDC1,frameshift_variant,p.Leu689ArgfsTer11,ENST00000456315,;DEPDC1,frameshift_variant,p.Leu405ArgfsTer11,ENST00000370966,;RP4-694A7.2,non_coding_transcript_exon_variant,,ENST00000425820,;DEPDC1,3_prime_UTR_variant,,ENST00000489862,;DEPDC1,non_coding_transcript_exon_variant,,ENST00000488146,;	2180-2183	198	164	SUCCESS
GPR157	80045	.	GRCh37	1	9188904	9188904	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	26	0	ENST00000377411.4:c.183C>T	p.Ala61=	p.A61=	ENST00000377411	NM_024980.4	61	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS100.2	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGGCCGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,PROSITE_profiles:PS50262,hmmpanther:PTHR23112,hmmpanther:PTHR23112:SF12,Gene3D:1.20.1070.10,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000366628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377411	Transcript	.	.	ENSG00000180758	23687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP157_HUMAN	GPR157	HGNC	.	.	UPI0000044DD4	SNV	GPR157,synonymous_variant,p.%3D,ENST00000414642,;GPR157,synonymous_variant,p.%3D,ENST00000377411,;GPR157,upstream_gene_variant,,ENST00000466131,;	326	26	41	SUCCESS
DPYD	1806	.	GRCh37	1	98164998	98164998	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764635955	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	49	142	0	ENST00000370192.3:c.589C>T	p.Pro197Ser	p.P197S	ENST00000370192	NM_000110.3	197	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30777.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGCCCAG	NONE	byFrequency	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Pfam_domain:PF13450,Gene3D:3.50.50.60,Superfamily_domains:SSF51971,Superfamily_domains:SSF46548,Prints_domain:PR00419	.	.	ENSP00000359211	.	6/23	.	.	.	.	.	.	.	.	rs764635955	6/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Pro197Ser,ENST00000370192,;DPYD,3_prime_UTR_variant,,ENST00000423006,;DPYD,non_coding_transcript_exon_variant,,ENST00000474241,;	690	142	157	SUCCESS
LPPR4	0	.	GRCh37	1	99771771	99771771	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	92	0	ENST00000370185.3:c.1497T>C	p.Asn499=	p.N499=	ENST00000370185	NM_014839.4	499	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS757.1	1497	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAATCAGTA	NONE	.	.	.	.	.	ENSP00000359204	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370185	Transcript	.	.	ENSG00000117600	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPPR4_HUMAN	LPPR4	Uniprot_gn	.	.	UPI0000161229	SNV	LPPR4,synonymous_variant,p.%3D,ENST00000370185,;LPPR4,synonymous_variant,p.%3D,ENST00000457765,;LPPR4,synonymous_variant,p.%3D,ENST00000370184,;	1994	92	94	SUCCESS
PLK1S1	0	.	GRCh37	20	21142904	21142904	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	99	0	ENST00000457464.1:n.462T>A		p.*154*	ENST00000457464				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTGAAGG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000591761	Transcript	.	.	ENSG00000232712	.	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP4-777D9.2	Clone_based_vega_gene	.	.	.	SNV	RP4-777D9.2,intron_variant,,ENST00000591761,;RP5-872K7.7,intron_variant,,ENST00000425746,;RP5-872K7.7,upstream_gene_variant,,ENST00000434043,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000428699,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000458446,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000445992,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000457464,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000424111,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000427692,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000432487,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000447448,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000246027,;RPS15AP1,downstream_gene_variant,,ENST00000457423,;	.	99	109	SUCCESS
NOP56	10528	.	GRCh37	20	2635458	2635458	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	58	0	ENST00000329276.5:c.434A>G	p.Gln145Arg	p.Q145R	ENST00000329276	NM_006392.3	145	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13030.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGCTGG	NONE	.	.	hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894	.	.	ENSP00000370589	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.465)	.	deleterious(0.01)	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,missense_variant,p.Gln145Arg,ENST00000445139,;NOP56,missense_variant,p.Gln145Arg,ENST00000329276,;IDH3B,downstream_gene_variant,,ENST00000380851,;IDH3B,downstream_gene_variant,,ENST00000380843,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORD86,upstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORA51,upstream_gene_variant,,ENST00000606420,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,upstream_gene_variant,,ENST00000413522,;NOP56,non_coding_transcript_exon_variant,,ENST00000480992,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000492240,;NOP56,upstream_gene_variant,,ENST00000480447,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000492135,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000470143,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,upstream_gene_variant,,ENST00000467196,;	950	58	49	SUCCESS
ODC1	4953	.	GRCh37	2	10581663	10581663	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	95	116	0	ENST00000234111.4:c.1213A>G	p.Ile405Val	p.I405V	ENST00000234111	NM_002539.1	405	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1672.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGATCGTCG	NONE	.	.	hmmpanther:PTHR11482:SF42,hmmpanther:PTHR11482,Pfam_domain:PF00278,Gene3D:2.40.37.10,Superfamily_domains:SSF50621	.	.	ENSP00000234111	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000234111	Transcript	.	.	ENSG00000115758	8109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.43)	.	DCOR_HUMAN	ODC1	HGNC	C9JG30_HUMAN	.	UPI0000001283	SNV	ODC1,missense_variant,p.Ile405Val,ENST00000234111,;ODC1,missense_variant,p.Ile405Val,ENST00000405333,;ODC1,downstream_gene_variant,,ENST00000443218,;ODC1,downstream_gene_variant,,ENST00000446285,;	1724	116	136	SUCCESS
THSD7B	80731	.	GRCh37	2	137814010	137814010	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	76	0	ENST00000272643.3:c.160G>C	p.Gly54Arg	p.G54R	ENST00000272643		54	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	.	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAGGAGAC	BUFFER|p.G23E|c.68G>A|3,BUFFER|p.G54E|c.161G>A|3	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,SMART_domains:SM00209	.	.	ENSP00000272643	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Gly54Arg,ENST00000409968,;THSD7B,missense_variant,p.Gly23Arg,ENST00000413152,;THSD7B,missense_variant,p.Gly54Arg,ENST00000272643,;THSD7B,upstream_gene_variant,,ENST00000543459,;THSD7B,3_prime_UTR_variant,,ENST00000472720,;	160	76	46	SUCCESS
PLCL1	5334	.	GRCh37	2	198949734	198949734	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1236965488	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	111	138	0	ENST00000428675.1:c.1493C>T	p.Pro498Leu	p.P498L	ENST00000428675	NM_006226.3	498	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2326.2	1493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCCGCAGC	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,Superfamily_domains:SSF51695	.	.	ENSP00000402861	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,missense_variant,p.Pro424Leu,ENST00000487695,;PLCL1,missense_variant,p.Pro498Leu,ENST00000428675,;PLCL1,missense_variant,p.Pro400Leu,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	1891	138	152	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218925128	218925128	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	63	0	ENST00000439871.1:n.1253C>T		p.*418*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GGCAGGGAGTC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,non_coding_transcript_exon_variant,,ENST00000443392,;	1253	63	55	SUCCESS
BBX	56987	.	GRCh37	3	107510138	107510138	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138504832	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	52	207	0	ENST00000325805.8:c.2345C>T	p.Pro782Leu	p.P782L	ENST00000325805		782	cCt/cTt	0	A:0.0002	.	.	.	.	T	P/L	protein_coding	YES	CCDS46881.1	2345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCTACAG	NONE	byCluster	.	hmmpanther:PTHR13059	.	A:0	ENSP00000319974	.	15/18	.	.	.	.	.	.	.	.	rs138504832	15/18	PASS	ENST00000325805	Transcript	.	.	ENSG00000114439	14422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated(0.13)	.	BBX_HUMAN	BBX	HGNC	Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN	.	UPI000007315E	SNV	BBX,missense_variant,p.Pro752Leu,ENST00000415149,;BBX,missense_variant,p.Pro782Leu,ENST00000325805,;BBX,missense_variant,p.Pro54Leu,ENST00000443253,;BBX,missense_variant,p.Pro752Leu,ENST00000406780,;BBX,synonymous_variant,p.%3D,ENST00000416476,;BBX,intron_variant,,ENST00000402543,;BBX,non_coding_transcript_exon_variant,,ENST00000473542,;	2632	207	223	SUCCESS
PLCXD2	257068	.	GRCh37	3	111393932	111393932	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	12	0	ENST00000477665.1:c.-161T>C		p.*54*	ENST00000477665	NM_001185106.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54619.1	.	MUTECT|MUSE	.	GCTAGTGGGTA	NONE	.	.	.	.	.	ENSP00000420686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,5_prime_UTR_variant,,ENST00000477665,;PLCXD2,5_prime_UTR_variant,,ENST00000393934,;PLCXD2-AS1,downstream_gene_variant,,ENST00000493131,;	164	12	15	SUCCESS
COPG1	22820	.	GRCh37	3	128973580	128973580	+	synonymous_variant	Silent	SNP	C	C	A	rs1416895782	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	38	0	ENST00000314797.6:c.393C>A	p.Ile131=	p.I131=	ENST00000314797	NM_016128.3	131	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33851.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCACTGA	CODON|p.I131I|c.393C>T|3	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037093,Pfam_domain:PF01602,Gene3D:1.25.10.10,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	.	ENSP00000325002	.	6/24	.	.	.	.	.	.	.	.	COSM1752894	6/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,synonymous_variant,p.%3D,ENST00000314797,;COPG1,3_prime_UTR_variant,,ENST00000504350,;COPG1,non_coding_transcript_exon_variant,,ENST00000509208,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,downstream_gene_variant,,ENST00000513965,;	497	38	44	SUCCESS
GPR87	53836	.	GRCh37	3	151017871	151017871	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	78	0	ENST00000260843.4:c.18G>T	p.Thr6=	p.T6=	ENST00000260843	NM_023915.3	6	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3157.1	18	MUTECT|MUSE	.	GCAAGCGTCAA	NONE	.	.	.	.	.	ENSP00000260843	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000260843	Transcript	.	.	ENSG00000138271	4538	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR87_HUMAN	GPR87	HGNC	.	.	UPI000003C9FF	SNV	GPR87,synonymous_variant,p.%3D,ENST00000260843,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000491549,;	483	78	81	SUCCESS
NLGN1	22871	.	GRCh37	3	173998534	173998534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	39	161	0	ENST00000457714.1:c.1913C>A	p.Pro638His	p.P638H	ENST00000457714	NM_014932.3	638	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3222.1	1913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCTACGA	NONE	.	.	.	.	.	ENSP00000392500	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0.01)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Pro678His,ENST00000401917,;NLGN1,missense_variant,p.Pro638His,ENST00000457714,;NLGN1,missense_variant,p.Pro638His,ENST00000361589,;NLGN1,missense_variant,p.Pro638His,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;	2342	161	142	SUCCESS
SETD2	29072	.	GRCh37	3	47098921	47098921	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	96	0	ENST00000409792.3:c.6353C>T	p.Thr2118Ile	p.T2118I	ENST00000409792	NM_014159.6	2118	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2749.2	6353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGTAGAA	NONE	.	.	.	.	.	ENSP00000386759	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Thr2118Ile,ENST00000409792,;SETD2,downstream_gene_variant,,ENST00000492397,;SETD2,3_prime_UTR_variant,,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;	6396	96	92	SUCCESS
DNAH12	201625	.	GRCh37	3	57454649	57454649	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	49	106	1	ENST00000351747.2:c.2163A>G	p.Glu721=	p.E721=	ENST00000351747	NM_178504.4	721	gaA/gaG	0	.	.	.	.	.	C	.	snoRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTTCCAC	NONE	.	1223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000459308	Transcript	.	.	ENSG00000238905	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	snoU13	RFAM	.	.	.	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000389536,;DNAH12,synonymous_variant,p.%3D,ENST00000495027,;snoU13,downstream_gene_variant,,ENST00000459308,;	.	107	128	SUCCESS
ROBO1	6091	.	GRCh37	3	78685014	78685014	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	57	175	0	ENST00000464233.1:c.3282T>C	p.Ser1094=	p.S1094=	ENST00000464233	NM_002941.3	1094	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS54611.1	3282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCAGAGTC	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,Low_complexity_(Seg):seg	.	.	ENSP00000420321	.	23/31	.	.	.	.	.	.	.	.	.	23/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,synonymous_variant,p.%3D,ENST00000464233,;ROBO1,synonymous_variant,p.%3D,ENST00000495273,;ROBO1,synonymous_variant,p.%3D,ENST00000436010,;ROBO1,synonymous_variant,p.%3D,ENST00000467549,;ROBO1,upstream_gene_variant,,ENST00000472273,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	3396	175	172	SUCCESS
OR5H14	403273	.	GRCh37	3	97868346	97868346	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	182	535	0	ENST00000437310.1:c.117C>A	p.Ile39=	p.I39=	ENST00000437310	NM_001005514.1	39	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33798.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCATGGG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,synonymous_variant,p.%3D,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	177	535	531	SUCCESS
C4orf45	152940	.	GRCh37	4	159956182	159956182	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	119	0	ENST00000434826.2:c.64+3A>G		p.X22_splice	ENST00000434826	NM_152543.2	22		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47156.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTTACCTG	NONE	.	.	.	.	.	ENSP00000412215	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	LOW	1/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,splice_region_variant,,ENST00000434826,;C4orf45,intron_variant,,ENST00000508011,;	.	119	91	SUCCESS
TENM3	55714	.	GRCh37	4	183659598	183659598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	46	131	0	ENST00000511685.1:c.3280T>C	p.Trp1094Arg	p.W1094R	ENST00000511685		1094	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS47165.1	3280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTGGGAA	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0.01)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Trp1094Arg,ENST00000511685,;TENM3,missense_variant,p.Trp1094Arg,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	3403	131	146	SUCCESS
PPEF2	5470	.	GRCh37	4	76794280	76794280	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs747832342	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	19	75	0	ENST00000286719.7:c.1506G>T	p.Lys502Asn	p.K502N	ENST00000286719	NM_006239.2	502	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34013.1	1506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTTGCG	NONE	.	.	Prints_domain:PR00114,Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214	.	.	ENSP00000286719	.	12/17	.	.	.	.	.	.	.	.	rs747832342,COSM3605878	12/17	PASS	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,missense_variant,p.Lys502Asn,ENST00000286719,;PPEF2,splice_region_variant,,ENST00000511880,;	1863	75	89	SUCCESS
EIF4E	1977	.	GRCh37	4	99850144	99850144	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	46	0	ENST00000280892.6:c.-21C>G		p.*7*	ENST00000280892	NM_001130678.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54779.1	.	RADIA|MUTECT|MUSE	.	GCAAGGGGTAC	NONE	.	.	.	.	.	ENSP00000425561	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000505992	Transcript	1	.	ENSG00000151247	3287	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IF4E_HUMAN	EIF4E	HGNC	D6RFJ3_HUMAN	.	UPI00017BAF0A	SNV	EIF4E,5_prime_UTR_variant,,ENST00000280892,;EIF4E,intron_variant,,ENST00000504432,;EIF4E,intron_variant,,ENST00000450253,;EIF4E,intron_variant,,ENST00000511644,;EIF4E,intron_variant,,ENST00000505992,;AC019131.1,downstream_gene_variant,,ENST00000459306,;RP11-571L19.7,intron_variant,,ENST00000583654,;EIF4E,intron_variant,,ENST00000418385,;EIF4E,intron_variant,,ENST00000504472,;EIF4E,intron_variant,,ENST00000515638,;EIF4E,intron_variant,,ENST00000507665,;	.	46	42	SUCCESS
WDR36	134430	.	GRCh37	5	110456277	110456277	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748204022	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	86	0	ENST00000506538.2:c.2156C>A	p.Thr719Asn	p.T719N	ENST00000506538	NM_139281.2	719	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS4102.1	2156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTACTTGTC	NONE	.	.	hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2	.	.	ENSP00000423067	.	18/23	.	.	.	.	.	.	.	.	rs748204022	18/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.02)	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,missense_variant,p.Thr719Asn,ENST00000513710,;WDR36,missense_variant,p.Thr719Asn,ENST00000506538,;	2729	86	101	SUCCESS
MYOT	9499	.	GRCh37	5	137219116	137219116	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	54	163	0	ENST00000239926.4:c.860G>T	p.Gly287Val	p.G287V	ENST00000239926	NM_006790.2	287	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4194.1	860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGAAGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000239926	.	7/10	.	.	.	.	.	.	.	.	COSM1216495	7/10	PASS	ENST00000239926	Transcript	1	.	ENSG00000120729	12399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	MYOTI_HUMAN	MYOT	HGNC	B4DT68_HUMAN	.	UPI000013CA96	SNV	MYOT,missense_variant,p.Gly287Val,ENST00000239926,;MYOT,missense_variant,p.Gly103Val,ENST00000421631,;MYOT,missense_variant,p.Gly172Val,ENST00000515645,;PKD2L2,upstream_gene_variant,,ENST00000503015,;RP11-381K20.2,non_coding_transcript_exon_variant,,ENST00000508281,;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,intron_variant,,ENST00000509812,;MYOT,non_coding_transcript_exon_variant,,ENST00000511254,;MYOT,non_coding_transcript_exon_variant,,ENST00000503748,;MYOT,upstream_gene_variant,,ENST00000508938,;	1234	163	180	SUCCESS
ANKHD1	54882	.	GRCh37	5	139889380	139889380	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	56	102	0	ENST00000360839.2:c.3924T>C	p.Cys1308=	p.C1308=	ENST00000360839	NM_017747.2	1308	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS4224.1	3924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTGAACT	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000297183	.	21/36	.	.	.	.	.	.	.	.	.	21/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,synonymous_variant,p.%3D,ENST00000297183,;ANKHD1,synonymous_variant,p.%3D,ENST00000412116,;ANKHD1,synonymous_variant,p.%3D,ENST00000246149,;ANKHD1,synonymous_variant,p.%3D,ENST00000360839,;ANKHD1,synonymous_variant,p.%3D,ENST00000421134,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000532219,;ANKHD1,upstream_gene_variant,,ENST00000431508,;ANKHD1,downstream_gene_variant,,ENST00000506930,;	4048	102	160	SUCCESS
ANKHD1	54882	.	GRCh37	5	139917173	139917173	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	34	115	1	ENST00000360839.2:c.7227A>T		p.X2409_splice	ENST00000360839	NM_017747.2	2409	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4224.1	7227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCAGGTAC	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	31/36	.	.	.	.	.	.	.	.	.	31/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	SRA1,missense_variant,p.Leu72Gln,ENST00000602657,;ANKHD1,synonymous_variant,p.%3D,ENST00000432301,;ANKHD1,synonymous_variant,p.%3D,ENST00000421706,;ANKHD1,synonymous_variant,p.%3D,ENST00000435794,;ANKHD1,synonymous_variant,p.%3D,ENST00000360839,;ANKHD1,synonymous_variant,p.%3D,ENST00000544120,;ANKHD1,synonymous_variant,p.%3D,ENST00000297183,;ANKHD1,synonymous_variant,p.%3D,ENST00000433049,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000437495,;ANKHD1,synonymous_variant,p.%3D,ENST00000431508,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000532219,;ANKHD1-EIF4EBP3,splice_region_variant,,ENST00000474060,;ANKHD1,splice_region_variant,,ENST00000495578,;ANKHD1,downstream_gene_variant,,ENST00000475148,;	7351	116	125	SUCCESS
PCDHA10	56139	.	GRCh37	5	140235699	140235699	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	46	59	0	ENST00000307360.5:c.66C>T	p.Ala22=	p.A22=	ENST00000307360	NM_018901.2	22	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54921.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCTGGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000506939,;PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;	66	59	68	SUCCESS
ZNF354B	117608	.	GRCh37	5	178310382	178310382	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	62	199	0	ENST00000322434.3:c.929G>C	p.Arg310Thr	p.R310T	ENST00000322434	NM_058230.2	310	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS4439.1	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAAGGTCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF87,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000327143	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000322434	Transcript	.	.	ENSG00000178338	17197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.46)	.	Z354B_HUMAN	ZNF354B	HGNC	E5RH89_HUMAN	.	UPI0000071A24	SNV	ZNF354B,missense_variant,p.Arg310Thr,ENST00000322434,;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522624,;ZNF354B,upstream_gene_variant,,ENST00000522714,;	1155	199	200	SUCCESS
OCLN	100506658	.	GRCh37	5	68805338	68805338	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759259792	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	109	283	0	ENST00000355237.2:c.421A>T	p.Met141Leu	p.M141L	ENST00000355237	NM_002538.3	141	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS4006.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCATGTTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,Pfam_domain:PF01284,PIRSF_domain:PIRSF005993,Superfamily_domains:SSF103473	.	.	ENSP00000347379	.	3/9	.	.	.	.	.	.	.	.	rs759259792	3/9	PASS	ENST00000355237	Transcript	1	.	ENSG00000197822	8104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.72)	.	OCLN_HUMAN	OCLN	HGNC	.	.	UPI00000341F0	SNV	OCLN,missense_variant,p.Met141Leu,ENST00000396442,;OCLN,missense_variant,p.Met141Leu,ENST00000355237,;OCLN,missense_variant,p.Met141Leu,ENST00000380766,;OCLN,intron_variant,,ENST00000542132,;OCLN,intron_variant,,ENST00000538151,;GUSBP3,intron_variant,,ENST00000380759,;	857	283	312	SUCCESS
EDIL3	10085	.	GRCh37	5	83680126	83680126	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs776762718	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	34	0	ENST00000296591.5:c.67G>A	p.Gly23Ser	p.G23S	ENST00000296591	NM_005711.4	23	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4062.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTTTGC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50026	.	.	ENSP00000296591	.	1/11	.	.	.	.	.	.	.	.	rs776762718	1/11	PASS	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.01)	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,missense_variant,p.Gly23Ser,ENST00000296591,;EDIL3,missense_variant,p.Gly23Ser,ENST00000380138,;CTD-2269F5.1,upstream_gene_variant,,ENST00000509406,;CTD-2269F5.1,upstream_gene_variant,,ENST00000507060,;CTD-2269F5.1,upstream_gene_variant,,ENST00000502253,;CTD-2269F5.1,upstream_gene_variant,,ENST00000514696,;CTD-2269F5.1,upstream_gene_variant,,ENST00000515688,;	486	34	42	SUCCESS
TFAP2A	7020	.	GRCh37	6	10398750	10398750	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	143	0	ENST00000482890.1:c.1214C>A	p.Ala405Asp	p.A405D	ENST00000482890		405	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4510.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCCTCG	NONE	.	.	hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF8,Pfam_domain:PF03299	.	.	ENSP00000368924	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000379604	Transcript	.	.	ENSG00000137203	11742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	AP2A_HUMAN	TFAP2A	HGNC	.	.	UPI0000125BC5	SNV	TFAP2A,missense_variant,p.Ala399Asp,ENST00000379608,;TFAP2A,missense_variant,p.Ala407Asp,ENST00000379613,;TFAP2A,missense_variant,p.Ala401Asp,ENST00000319516,;TFAP2A,missense_variant,p.Ala405Asp,ENST00000482890,;TFAP2A,missense_variant,p.Ala405Asp,ENST00000379604,;TFAP2A,intron_variant,,ENST00000461628,;TFAP2A,downstream_gene_variant,,ENST00000498450,;TFAP2A,downstream_gene_variant,,ENST00000475264,;TFAP2A,downstream_gene_variant,,ENST00000466073,;TFAP2A,downstream_gene_variant,,ENST00000497266,;TFAP2A,3_prime_UTR_variant,,ENST00000488193,;TFAP2A,3_prime_UTR_variant,,ENST00000489805,;TFAP2A,downstream_gene_variant,,ENST00000478375,;	1466	143	140	SUCCESS
FAM184A	79632	.	GRCh37	6	119345814	119345814	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	72	200	0	ENST00000338891.7:c.324T>G	p.Ile108Met	p.I108M	ENST00000338891	NM_024581.4	108	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS43499.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGAATCTT	NONE	.	.	hmmpanther:PTHR18870,hmmpanther:PTHR18870:SF7	.	.	ENSP00000342604	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.09)	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,missense_variant,p.Ile108Met,ENST00000338891,;FAM184A,missense_variant,p.Ile108Met,ENST00000521531,;FAM184A,5_prime_UTR_variant,,ENST00000368475,;FAM184A,5_prime_UTR_variant,,ENST00000352896,;FAM184A,5_prime_UTR_variant,,ENST00000522284,;FAM184A,upstream_gene_variant,,ENST00000448815,;RP11-351A11.1,intron_variant,,ENST00000518570,;	768	200	224	SUCCESS
THEMIS	387357	.	GRCh37	6	128222138	128222138	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	56	0	ENST00000368248.2:c.-61G>T		p.*21*	ENST00000368248	NM_001010923.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55056.1	.	MUTECT|MUSE	.	GGTGACACTTG	NONE	.	.	.	.	.	ENSP00000439594	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,5_prime_UTR_variant,,ENST00000368250,;THEMIS,5_prime_UTR_variant,,ENST00000368248,;THEMIS,5_prime_UTR_variant,,ENST00000543064,;THEMIS,intron_variant,,ENST00000537166,;THEMIS,upstream_gene_variant,,ENST00000434358,;	89	56	73	SUCCESS
ADGB	79747	.	GRCh37	6	147109747	147109747	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs370591540	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	50	0	ENST00000397944.3:c.4537+1G>A		p.X1513_splice	ENST00000397944	NM_024694.3	1513		0	A:0	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCGTAAGT	NONE	byFrequency|byCluster	.	.	.	A:0.0003	ENSP00000381036	.	.	.	.	.	.	.	.	.	.	rs370591540	.	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	HIGH	33/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,splice_donor_variant,,ENST00000367493,;ADGB,splice_donor_variant,,ENST00000326916,;ADGB,splice_donor_variant,,ENST00000367490,;ADGB,splice_donor_variant,,ENST00000397944,;ADGB,splice_donor_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000470716,;ADGB,downstream_gene_variant,,ENST00000523560,;ADGB,splice_donor_variant,,ENST00000493950,;ADGB,splice_donor_variant,,ENST00000480328,;	.	50	52	SUCCESS
MAP3K4	4216	.	GRCh37	6	161470524	161470524	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	62	161	0	ENST00000392142.4:c.1220T>G	p.Leu407Ter	p.L407*	ENST00000392142	NM_005922.2	407	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS34565.1	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTAAGGA	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,stop_gained,p.Leu407Ter,ENST00000366919,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000348824,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000366920,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000392142,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000544041,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000490904,;MAP3K4,intron_variant,,ENST00000542952,;	1368	161	167	SUCCESS
EHMT2	10919	.	GRCh37	6	31848859	31848859	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	52	0	ENST00000375537.4:c.3208G>A	p.Glu1070Lys	p.E1070K	ENST00000375537	NM_006709.3	1070	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4725.1	3208	MUTECT|MUSE	.	CAGCTCCCCGA	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306,Gene3D:2.170.270.10,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000364687	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000375537	Transcript	.	.	ENSG00000204371	14129	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EHMT2_HUMAN	EHMT2	HGNC	.	.	UPI000013D085	SNV	EHMT2,missense_variant,p.Glu1093Lys,ENST00000375528,;EHMT2,missense_variant,p.Glu1127Lys,ENST00000395728,;EHMT2,missense_variant,p.Glu1036Lys,ENST00000375530,;EHMT2,missense_variant,p.Glu1070Lys,ENST00000375537,;EHMT2,downstream_gene_variant,,ENST00000436026,;SLC44A4,upstream_gene_variant,,ENST00000229729,;SLC44A4,upstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000544672,;SLC44A4,upstream_gene_variant,,ENST00000375562,;EHMT2-AS1,upstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000478491,;SLC44A4,upstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000462671,;EHMT2,non_coding_transcript_exon_variant,,ENST00000461880,;EHMT2,non_coding_transcript_exon_variant,,ENST00000494816,;EHMT2,downstream_gene_variant,,ENST00000477678,;	3215	52	48	SUCCESS
ZBTB9	221504	.	GRCh37	6	33424110	33424110	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	43	0	ENST00000395064.2:c.1233T>A	p.Phe411Leu	p.F411L	ENST00000395064	NM_152735.3	411	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS4780.1	1233	MUSE|VARSCANS	.	CCTTTTGGCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24414:SF24,hmmpanther:PTHR24414,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	SNV	ZBTB9,missense_variant,p.Phe411Leu,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000428982,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	1501	43	43	SUCCESS
DUSP22	56940	.	GRCh37	6	349068	349068	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	19	0	ENST00000344450.5:c.508+227G>C		p.*170*	ENST00000344450	NM_020185.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4468.1	.	RADIA|MUTECT|VARSCANS	.	GGTGGGGCGAG	NONE	.	.	.	.	.	ENSP00000345281	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344450	Transcript	.	.	ENSG00000112679	16077	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUS22_HUMAN	DUSP22	HGNC	S4R3A4_HUMAN	.	UPI0000036A3C	SNV	DUSP22,3_prime_UTR_variant,,ENST00000419235,;DUSP22,3_prime_UTR_variant,,ENST00000605315,;DUSP22,3_prime_UTR_variant,,ENST00000604971,;DUSP22,intron_variant,,ENST00000344450,;DUSP22,downstream_gene_variant,,ENST00000605863,;DUSP22,downstream_gene_variant,,ENST00000603453,;DUSP22,downstream_gene_variant,,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000605035,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,intron_variant,,ENST00000604988,;DUSP22,downstream_gene_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,downstream_gene_variant,,ENST00000604914,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,intron_variant,,ENST00000603726,;	.	19	19	SUCCESS
EYS	346007	.	GRCh37	6	66044982	66044982	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	51	136	0	ENST00000370616.2:c.1657C>A	p.Leu553Ile	p.L553I	ENST00000370616		553	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS47445.1	1657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGATACC	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,SMART_domains:SM00181	.	.	ENSP00000424243	.	11/43	.	.	.	.	.	.	.	.	.	11/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Leu553Ile,ENST00000342421,;EYS,missense_variant,p.Leu553Ile,ENST00000393380,;EYS,missense_variant,p.Leu553Ile,ENST00000370616,;EYS,missense_variant,p.Leu553Ile,ENST00000370618,;EYS,missense_variant,p.Leu553Ile,ENST00000370621,;EYS,missense_variant,p.Leu553Ile,ENST00000503581,;	2195	136	138	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138764382	138764382	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	108	181	0	ENST00000242351.5:c.1305G>T	p.Val435=	p.V435=	ENST00000242351	NM_020119.3	435	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5851.1	1305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCACTCC	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,synonymous_variant,p.%3D,ENST00000471652,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000464606,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000242351,;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;	1622	181	233	SUCCESS
EPHA1	2041	.	GRCh37	7	143095957	143095957	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370810516	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	31	0	ENST00000275815.3:c.1073C>A	p.Thr358Lys	p.T358K	ENST00000275815	NM_005232.4	358	aCg/aAg	0	A:0	.	.	.	.	T	T/K	protein_coding	YES	CCDS5884.1	1073	RADIA|MUTECT|MUSE	.	CCCCCGTATCT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853	.	A:0.0001	ENSP00000275815	.	6/18	.	.	.	.	.	.	.	.	rs370810516	6/18	PASS	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.11)	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,missense_variant,p.Thr358Lys,ENST00000275815,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;EPHA1,upstream_gene_variant,,ENST00000494989,;	1160	31	46	SUCCESS
EPHA1	2041	.	GRCh37	7	143095959	143095959	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	21	31	0	ENST00000275815.3:c.1071T>A	p.Asp357Glu	p.D357E	ENST00000275815	NM_005232.4	357	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5884.1	1071	RADIA|MUTECT|MUSE	.	CCCGTATCTGC	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853	.	.	ENSP00000275815	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	tolerated(0.06)	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,missense_variant,p.Asp357Glu,ENST00000275815,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;EPHA1,upstream_gene_variant,,ENST00000494989,;	1158	31	45	SUCCESS
DFNA5	0	.	GRCh37	7	24758722	24758722	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761265129	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	48	0	ENST00000342947.3:c.520A>G	p.Met174Val	p.M174V	ENST00000342947	NM_004403.2	174	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS5389.1	520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATGTGCT	NONE	.	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	.	.	ENSP00000339587	.	4/10	.	.	.	.	.	.	.	.	rs761265129	4/10	PASS	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,missense_variant,p.Met174Val,ENST00000409775,;DFNA5,missense_variant,p.Met174Val,ENST00000342947,;DFNA5,missense_variant,p.Met10Val,ENST00000414428,;DFNA5,missense_variant,p.Met10Val,ENST00000545231,;DFNA5,missense_variant,p.Met10Val,ENST00000419307,;DFNA5,missense_variant,p.Met10Val,ENST00000409970,;DFNA5,upstream_gene_variant,,ENST00000415480,;DFNA5,upstream_gene_variant,,ENST00000446822,;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,;DFNA5,missense_variant,p.Met97Val,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;	946	48	26	SUCCESS
STAG3L3	442578	.	GRCh37	7	72469249	72469249	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	17	0	ENST00000423834.2:n.1026G>A		p.*342*	ENST00000423834				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	CTGGGCACCTG	NONE	.	4253	.	.	.	ENSP00000471729	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000594241	Transcript	.	.	ENSG00000267985	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC005488.1	Clone_based_ensembl_gene	M0R184_HUMAN	.	UPI00015E04AA	SNV	AC005488.1,downstream_gene_variant,,ENST00000594241,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000569650,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000448173,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000428423,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000423834,;STAG3L3,intron_variant,,ENST00000436857,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000608210,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000308103,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000426587,;	.	17	18	SUCCESS
RP1	6101	.	GRCh37	8	55539906	55539906	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	57	190	0	ENST00000220676.1:c.3464A>G	p.Asn1155Ser	p.N1155S	ENST00000220676	NM_006269.1	1155	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS6160.1	3464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCAACAAAT	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Asn1155Ser,ENST00000220676,;	3612	190	238	SUCCESS
MATN2	4147	.	GRCh37	8	99045370	99045370	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	48	137	0	ENST00000254898.5:c.2682T>C	p.Ser894=	p.S894=	ENST00000254898	NM_002380.3	894	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS55264.1	2682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCTACACA	NONE	.	.	hmmpanther:PTHR22992:SF17,hmmpanther:PTHR22992	.	.	ENSP00000430487	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000520016	Transcript	.	.	ENSG00000132561	6908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATN2_HUMAN	MATN2	HGNC	E5RJM4_HUMAN	.	UPI000021037B	SNV	MATN2,synonymous_variant,p.%3D,ENST00000518154,;MATN2,synonymous_variant,p.%3D,ENST00000521689,;MATN2,synonymous_variant,p.%3D,ENST00000254898,;MATN2,synonymous_variant,p.%3D,ENST00000520016,;MATN2,synonymous_variant,p.%3D,ENST00000522135,;MATN2,synonymous_variant,p.%3D,ENST00000524308,;MATN2,synonymous_variant,p.%3D,ENST00000519582,;MATN2,synonymous_variant,p.%3D,ENST00000522025,;RPL30,intron_variant,,ENST00000518164,;MATN2,3_prime_UTR_variant,,ENST00000521952,;MATN2,non_coding_transcript_exon_variant,,ENST00000523561,;	2806	137	180	SUCCESS
HSPA5	3309	.	GRCh37	9	128001549	128001549	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	46	97	0	ENST00000324460.6:c.667T>G	p.Phe223Val	p.F223V	ENST00000324460	NM_005347.4	223	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS6863.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAAACACCA	NONE	.	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.30.420.40,PROSITE_patterns:PS00329,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF157	.	.	ENSP00000324173	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000324460	Transcript	.	.	ENSG00000044574	5238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	GRP78_HUMAN	HSPA5	HGNC	.	.	UPI0000001061	SNV	HSPA5,missense_variant,p.Phe223Val,ENST00000324460,;RP11-65N13.8,upstream_gene_variant,,ENST00000468244,;	871	98	86	SUCCESS
EXOSC3	51010	.	GRCh37	9	37784995	37784995	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	59	1	ENST00000327304.5:c.47G>A	p.Arg16Lys	p.R16K	ENST00000327304	NM_016042.3	16	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS35016.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCCTGCTG	NONE	.	.	hmmpanther:PTHR21321,hmmpanther:PTHR21321:SF3	.	.	ENSP00000323046	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000327304	Transcript	.	.	ENSG00000107371	17944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.49)	.	EXOS3_HUMAN	EXOSC3	HGNC	.	.	UPI0000134936	SNV	EXOSC3,missense_variant,p.Arg16Lys,ENST00000327304,;EXOSC3,missense_variant,p.Arg16Lys,ENST00000396521,;EXOSC3,intron_variant,,ENST00000482614,;EXOSC3,intron_variant,,ENST00000489414,;EXOSC3,upstream_gene_variant,,ENST00000490516,;EXOSC3,missense_variant,p.Arg16Lys,ENST00000465229,;RP11-613M10.9,intron_variant,,ENST00000540557,;EXOSC3,upstream_gene_variant,,ENST00000496910,;EXOSC3,upstream_gene_variant,,ENST00000465860,;	60	60	40	SUCCESS
C9orf64	84267	.	GRCh37	9	86571114	86571114	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1255636282	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	26	0	ENST00000376344.3:c.302C>T	p.Ser101Phe	p.S101F	ENST00000376344	NM_032307.3	101	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS6666.2	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGACCAG	NONE	.	.	hmmpanther:PTHR21314:SF0,hmmpanther:PTHR21314,Pfam_domain:PF10343	.	.	ENSP00000365522	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000376344	Transcript	.	.	ENSG00000165118	28144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	CI064_HUMAN	C9orf64	HGNC	Q5T6V7_HUMAN	.	UPI000013E45E	SNV	C9orf64,missense_variant,p.Ser101Phe,ENST00000376344,;C9orf64,5_prime_UTR_variant,,ENST00000314700,;C9orf64,5_prime_UTR_variant,,ENST00000376340,;	519	26	24	SUCCESS
PHF2	5253	.	GRCh37	9	96415567	96415567	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	31	0	ENST00000359246.4:c.709T>G	p.Cys237Gly	p.C237G	ENST00000359246	NM_005392.3	237	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS35069.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACTGCCTA	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Gene3D:1vrbA01,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000352185	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,missense_variant,p.Cys237Gly,ENST00000359246,;PHF2,intron_variant,,ENST00000375376,;	1076	31	22	SUCCESS
NXF2B	728343	.	GRCh37	X	101615541	101615541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	767	67	782	0	ENST00000457521.2:c.1862C>T	p.Ala621Val	p.A621V	ENST00000457521		621	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43979.1	1862	MUTECT|MUSE	.	TGAAGGCCTCC	NONE	.	.	PROSITE_profiles:PS51281,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF15,Gene3D:1.10.8.10,Pfam_domain:PF03943,SMART_domains:SM00804,Superfamily_domains:SSF46934	.	.	ENSP00000396447	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000457521	Transcript	.	.	ENSG00000185945	23984	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.708)	.	deleterious(0.04)	.	NXF2_HUMAN	NXF2B	HGNC	D3DX98_HUMAN	.	UPI0000130AB1	SNV	NXF2B,missense_variant,p.Ala621Val,ENST00000372749,;NXF2B,missense_variant,p.Ala621Val,ENST00000457521,;NXF2B,missense_variant,p.Ala621Val,ENST00000372750,;NXF2B,missense_variant,p.Ala621Val,ENST00000412230,;NXF2B,3_prime_UTR_variant,,ENST00000372752,;NXF2B,downstream_gene_variant,,ENST00000489531,;	3734	782	834	SUCCESS
FAM127C	0	.	GRCh37	X	134156305	134156305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	52	126	0	ENST00000391440.1:c.185C>T	p.Ala62Val	p.A62V	ENST00000391440	NM_001078173.1	62	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43996.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGCGTCG	NONE	.	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF6	.	.	ENSP00000375268	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391440	Transcript	.	.	ENSG00000212747	33156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.06)	.	F127C_HUMAN	FAM127C	HGNC	.	.	UPI00001613F2	SNV	FAM127C,missense_variant,p.Ala62Val,ENST00000391440,;	255	126	153	SUCCESS
L1CAM	3897	.	GRCh37	X	153136308	153136308	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs202000092	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	69	211	0	ENST00000370060.1:c.631G>T	p.Ala211Ser	p.A211S	ENST00000370060	NM_001278116.1	211	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14733.1	631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGTGGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	7/29	.	.	.	.	.	.	.	.	rs202000092	7/29	PASS	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Ala213Ser,ENST00000538883,;L1CAM,missense_variant,p.Ala206Ser,ENST00000370055,;L1CAM,missense_variant,p.Ala206Ser,ENST00000361981,;L1CAM,missense_variant,p.Ala213Ser,ENST00000543994,;L1CAM,missense_variant,p.Ala211Ser,ENST00000370057,;L1CAM,missense_variant,p.Ala211Ser,ENST00000370060,;L1CAM,missense_variant,p.Ala211Ser,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000484652,;L1CAM,downstream_gene_variant,,ENST00000460553,;	821	211	210	SUCCESS
ZFX	7543	.	GRCh37	X	24229378	24229378	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	108	347	0	ENST00000304543.5:c.2303C>A	p.Ser768Tyr	p.S768Y	ENST00000304543		768	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS14211.1	2303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCCATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF208,hmmpanther:PTHR24387,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000368475	.	11/11	.	.	.	.	.	.	.	.	COSM3913800	11/11	PASS	ENST00000379177	Transcript	.	.	ENSG00000005889	12869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	ZFX_HUMAN	ZFX	HGNC	Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN	.	UPI000013C504	SNV	ZFX,missense_variant,p.Ser807Tyr,ENST00000540034,;ZFX,missense_variant,p.Ser768Tyr,ENST00000379188,;ZFX,missense_variant,p.Ser768Tyr,ENST00000379177,;ZFX,missense_variant,p.Ser539Tyr,ENST00000539115,;ZFX,missense_variant,p.Ser768Tyr,ENST00000304543,;ZFX,missense_variant,p.Ser718Tyr,ENST00000338565,;ZFX,downstream_gene_variant,,ENST00000459724,;	2730	347	301	SUCCESS
MXRA5	25878	.	GRCh37	X	3227926	3227926	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1366305934	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	72	268	1	ENST00000217939.6:c.8318C>T	p.Ser2773Leu	p.S2773L	ENST00000217939	NM_015419.3	2773	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS14124.1	8318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCGACTTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000217939	.	7/7	.	.	.	.	.	.	.	.	COSM3560940,COSM3560941	7/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.031)	.	tolerated(0.05)	1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Ser2773Leu,ENST00000217939,;	8473	269	232	SUCCESS
FAM47A	158724	.	GRCh37	X	34149524	34149524	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	42	152	0	ENST00000346193.3:c.872C>G	p.Thr291Arg	p.T291R	ENST00000346193	NM_203408.3	291	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS43926.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGTGGGT	NONE	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	tolerated(0.37)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Thr291Arg,ENST00000346193,;	924	152	133	SUCCESS
MAOB	4129	.	GRCh37	X	43655030	43655030	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	117	0	ENST00000378069.4:c.724A>T	p.Arg242Ter	p.R242*	ENST00000378069	NM_000898.4	242	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS14261.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTGTCT	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF51905	.	.	ENSP00000367309	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,stop_gained,p.Arg226Ter,ENST00000538942,;MAOB,stop_gained,p.Arg226Ter,ENST00000536181,;MAOB,stop_gained,p.Arg242Ter,ENST00000378069,;MAOB,downstream_gene_variant,,ENST00000487544,;	872	117	112	SUCCESS
MTMR8	55613	.	GRCh37	X	63548663	63548663	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	25	0	ENST00000374852.3:c.1470C>A	p.Pro490=	p.P490=	ENST00000374852	NM_017677.3	490	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14379.1	1470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGGGCAC	NONE	.	.	Superfamily_domains:SSF52799,hmmpanther:PTHR10807:SF36,hmmpanther:PTHR10807,PROSITE_profiles:PS51339	.	.	ENSP00000363985	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000374852	Transcript	.	.	ENSG00000102043	16825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMR8_HUMAN	MTMR8	HGNC	.	.	UPI000006DFF7	SNV	MTMR8,synonymous_variant,p.%3D,ENST00000374852,;MTMR8,intron_variant,,ENST00000453546,;MTMR8,downstream_gene_variant,,ENST00000462447,;MTMR8,downstream_gene_variant,,ENST00000478487,;	1538	25	33	SUCCESS
PIN4	5303	.	GRCh37	X	71417258	71417258	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1423088655	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	91	259	0	ENST00000373669.2:c.353C>A	p.Pro118Gln	p.P118Q	ENST00000373669	NM_006223.3	118	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS14417.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCATTTC	NONE	.	.	PROSITE_profiles:PS50198,hmmpanther:PTHR10657,Gene3D:3.10.50.40,Pfam_domain:PF13616,Superfamily_domains:SSF54534	.	.	ENSP00000362773	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000373669	Transcript	.	.	ENSG00000102309	8992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	tolerated(0.05)	.	PIN4_HUMAN	PIN4	HGNC	A8E0G8_HUMAN	.	UPI00002263A9	SNV	PIN4,missense_variant,p.Pro118Gln,ENST00000373669,;PIN4,3_prime_UTR_variant,,ENST00000218432,;PIN4,intron_variant,,ENST00000423432,;PIN4,intron_variant,,ENST00000496835,;PIN4,downstream_gene_variant,,ENST00000446576,;RN7SL388P,upstream_gene_variant,,ENST00000498736,;PIN4,intron_variant,,ENST00000439980,;PIN4,downstream_gene_variant,,ENST00000373662,;	385	260	298	SUCCESS
LDB1	8861	.	GRCh37	10	103870721	103870721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	106	0	ENST00000425280.1:c.257A>G	p.Asp86Gly	p.D86G	ENST00000425280	NM_001113407.1	86	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS44472.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGTCACAC	NONE	.	.	hmmpanther:PTHR10378:SF7,hmmpanther:PTHR10378,Pfam_domain:PF01803	.	.	ENSP00000392466	.	5/11	.	.	.	.	.	.	.	.	.	5/11	nonpreferredpair	ENST00000425280	Transcript	.	.	ENSG00000198728	6532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0)	.	LDB1_HUMAN	LDB1	HGNC	.	.	UPI00001F95EA	SNV	LDB1,missense_variant,p.Asp86Gly,ENST00000425280,;LDB1,missense_variant,p.Asp50Gly,ENST00000361198,;LDB1,non_coding_transcript_exon_variant,,ENST00000461873,;LDB1,non_coding_transcript_exon_variant,,ENST00000490751,;	600	106	88	SUCCESS
MYO3A	53904	.	GRCh37	10	26414368	26414368	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	33	121	0	ENST00000265944.5:c.1945G>T	p.Ala649Ser	p.A649S	ENST00000265944	NM_017433.4	649	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS7148.1	1945	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGCTCTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	19/35	.	.	.	.	.	.	.	.	COSM917279	19/35	nonpreferredpair	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.838)	.	deleterious(0)	1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Ala649Ser,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	2111	121	122	SUCCESS
CDHR1	92211	.	GRCh37	10	85971460	85971460	+	synonymous_variant	Silent	SNP	T	T	A	rs779290074	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	23	82	0	ENST00000372117.3:c.1542T>A	p.Thr514=	p.T514=	ENST00000372117	NM_033100.3	514	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7372.1	1542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACTGGGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	14/17	.	.	.	.	.	.	.	.	rs779290074	14/17	nonpreferredpair	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,synonymous_variant,p.%3D,ENST00000440770,;CDHR1,synonymous_variant,p.%3D,ENST00000372117,;CDHR1,synonymous_variant,p.%3D,ENST00000332904,;CDHR1,upstream_gene_variant,,ENST00000459673,;	1645	82	84	SUCCESS
KIF20B	9585	.	GRCh37	10	91522476	91522476	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	86	0	ENST00000371728.3:c.4873A>G	p.Ile1625Val	p.I1625V	ENST00000371728	NM_001284259.1	1625	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7407.1	4753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGATTCAA	NONE	.	.	hmmpanther:PTHR23165	.	.	ENSP00000260753	.	29/33	.	.	.	.	.	.	.	.	.	29/33	nonpreferredpair	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,missense_variant,p.Ile1625Val,ENST00000371728,;KIF20B,missense_variant,p.Ile1655Val,ENST00000416354,;KIF20B,missense_variant,p.Ile1585Val,ENST00000260753,;KIF20B,missense_variant,p.Ile1625Val,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	4825	86	62	SUCCESS
SORL1	6653	.	GRCh37	11	121440944	121440944	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs747210518	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	90	0	ENST00000260197.7:c.3302A>G	p.Asn1101Ser	p.N1101S	ENST00000260197	NM_003105.5	1101	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8436.1	3302	MUTECT|MUSE	.	TGACAACGACT	NONE	byFrequency	.	PROSITE_profiles:PS50068,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000260197	.	23/48	.	.	.	.	.	.	.	.	rs747210518	23/48	nonpreferredpair	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.148)	.	deleterious_low_confidence(0.01)	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,missense_variant,p.Asn45Ser,ENST00000525532,;SORL1,missense_variant,p.Asn1101Ser,ENST00000260197,;	3431	90	81	SUCCESS
MRGPRE	116534	.	GRCh37	11	3249346	3249346	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs531538794	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	29	0	ENST00000389832.5:c.684C>A	p.Phe228Leu	p.F228L	ENST00000389832		228	ttC/ttA	0	.	C:0	.	C:0	.	T	F/L	protein_coding	YES	.	681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGAAGAG	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF26,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02108,Prints_domain:PR00237	C:0	.	ENSP00000393251	C:0	2/2	.	.	.	.	.	.	.	.	rs531538794	2/2	nonpreferredpair	ENST00000436689	Transcript	.	C:0.0002	ENSG00000184350	30694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	C:0.001	tolerated(1)	.	MRGRE_HUMAN	MRGPRE	HGNC	.	.	UPI00001D78AA	SNV	MRGPRE,missense_variant,p.Phe227Leu,ENST00000436689,;MRGPRE,missense_variant,p.Phe228Leu,ENST00000389832,;AC109309.4,intron_variant,,ENST00000418995,;MRGPRG-AS1,downstream_gene_variant,,ENST00000420873,;MRGPRG-AS1,downstream_gene_variant,,ENST00000434798,;	991	29	29	SUCCESS
TRIM22	10346	.	GRCh37	11	5717446	5717446	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	95	0	ENST00000379965.3:c.-17G>A		p.*6*	ENST00000379965	NM_001199573.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41612.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGCCAAG	NONE	.	.	.	.	.	ENSP00000369299	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000379965	Transcript	.	.	ENSG00000132274	16379	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI22_HUMAN	TRIM22	HGNC	C9JIU5_HUMAN,C9J060_HUMAN	.	UPI0000074222	SNV	TRIM22,5_prime_UTR_variant,,ENST00000414641,;TRIM22,5_prime_UTR_variant,,ENST00000425490,;TRIM22,5_prime_UTR_variant,,ENST00000454828,;TRIM22,5_prime_UTR_variant,,ENST00000379965,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,non_coding_transcript_exon_variant,,ENST00000460454,;TRIM22,upstream_gene_variant,,ENST00000480395,;TRIM22,upstream_gene_variant,,ENST00000414897,;	261	95	84	SUCCESS
SLC22A10	387775	.	GRCh37	11	63059095	63059095	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	128	0	ENST00000332793.6:c.486A>T	p.Ile162=	p.I162=	ENST00000332793	NM_001039752.3	162	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS41661.1	486	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATAGGTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000327569	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000332793	Transcript	.	.	ENSG00000184999	18057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AA_HUMAN	SLC22A10	HGNC	B4DJY8_HUMAN	.	UPI0000D62620	SNV	SLC22A10,synonymous_variant,p.%3D,ENST00000544661,;SLC22A10,synonymous_variant,p.%3D,ENST00000332793,;SLC22A10,synonymous_variant,p.%3D,ENST00000526800,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,downstream_gene_variant,,ENST00000533176,;SLC22A10,synonymous_variant,p.%3D,ENST00000532724,;SLC22A10,synonymous_variant,p.%3D,ENST00000533483,;	488	128	111	SUCCESS
KAT5	10524	.	GRCh37	11	65482196	65482196	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	49	152	0	ENST00000377046.3:c.822G>T	p.Lys274Asn	p.K274N	ENST00000377046	NM_006388.3	274	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS8110.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGTGTCT	NONE	.	.	hmmpanther:PTHR10615,Superfamily_domains:SSF55729	.	.	ENSP00000340330	.	7/13	.	.	.	.	.	.	.	.	.	7/13	nonpreferredpair	ENST00000341318	Transcript	.	.	ENSG00000172977	5275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	deleterious(0.05)	.	KAT5_HUMAN	KAT5	HGNC	E9PMG8_HUMAN,E9PJI1_HUMAN	.	UPI00001D3EFB	SNV	KAT5,missense_variant,p.Lys255Asn,ENST00000530446,;KAT5,missense_variant,p.Lys268Asn,ENST00000531880,;KAT5,missense_variant,p.Lys222Asn,ENST00000352980,;KAT5,missense_variant,p.Lys307Asn,ENST00000341318,;KAT5,missense_variant,p.Lys63Asn,ENST00000534650,;KAT5,missense_variant,p.Lys274Asn,ENST00000377046,;KAT5,downstream_gene_variant,,ENST00000528198,;KAT5,upstream_gene_variant,,ENST00000533596,;RNASEH2C,downstream_gene_variant,,ENST00000527610,;RNASEH2C,downstream_gene_variant,,ENST00000528220,;RNASEH2C,downstream_gene_variant,,ENST00000308418,;KAT5,downstream_gene_variant,,ENST00000530605,;KAT5,downstream_gene_variant,,ENST00000534104,;KAT5,downstream_gene_variant,,ENST00000534681,;KAT5,non_coding_transcript_exon_variant,,ENST00000534293,;KAT5,downstream_gene_variant,,ENST00000525204,;KAT5,non_coding_transcript_exon_variant,,ENST00000527544,;RNASEH2C,downstream_gene_variant,,ENST00000531596,;RNASEH2C,downstream_gene_variant,,ENST00000533698,;KAT5,upstream_gene_variant,,ENST00000525600,;KAT5,upstream_gene_variant,,ENST00000533441,;KAT5,downstream_gene_variant,,ENST00000532042,;RNASEH2C,downstream_gene_variant,,ENST00000534482,;	1155	152	158	SUCCESS
RAB6A	5870	.	GRCh37	11	73431941	73431941	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	29	108	0	ENST00000336083.3:c.133A>G	p.Thr45Ala	p.T45A	ENST00000336083	NM_198896.1	45	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8223.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGTTGCCT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF421,hmmpanther:PTHR24073,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000311449	.	3/8	.	.	.	.	.	.	.	.	.	3/8	nonpreferredpair	ENST00000310653	Transcript	.	.	ENSG00000175582	9786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0)	.	RAB6A_HUMAN	RAB6A	HGNC	Q9UL30_HUMAN	.	UPI000002B21A	SNV	RAB6A,missense_variant,p.Thr38Ala,ENST00000541973,;RAB6A,missense_variant,p.Thr45Ala,ENST00000336083,;RAB6A,missense_variant,p.Thr37Ala,ENST00000400470,;RAB6A,missense_variant,p.Thr45Ala,ENST00000310653,;RAB6A,missense_variant,p.Thr12Ala,ENST00000536566,;RAB6A,missense_variant,p.Thr45Ala,ENST00000541588,;RAB6A,intron_variant,,ENST00000540771,;RP11-456I15.2,upstream_gene_variant,,ENST00000538624,;RAB6A,missense_variant,p.Thr45Ala,ENST00000537446,;RAB6A,missense_variant,p.Thr45Ala,ENST00000545625,;	635	108	113	SUCCESS
NOS1	4842	.	GRCh37	12	117723945	117723945	+	synonymous_variant	Silent	SNP	C	C	T	rs946356254	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	112	1	ENST00000317775.6:c.1254G>A	p.Ser418=	p.S418=	ENST00000317775	NM_000620.4	418	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55890.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGCGAGGC	BUFFER|p.R415Q|c.1244G>A|4	.	.	Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Gene3D:3.90.340.10,Pfam_domain:PF02898,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	5/29	.	.	.	.	.	.	.	.	COSM1359118	5/29	nonpreferredpair	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,synonymous_variant,p.%3D,ENST00000317775,;NOS1,synonymous_variant,p.%3D,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	1259	113	117	SUCCESS
DNAH10	196385	.	GRCh37	12	124414218	124414218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	95	0	ENST00000409039.3:c.12170T>C	p.Met4057Thr	p.M4057T	ENST00000409039	NM_207437.3	4057	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS9255.2	12170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATGGAAA	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000386770	.	71/78	.	.	.	.	.	.	.	.	.	71/78	nonpreferredpair	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Met4057Thr,ENST00000409039,;DNAH10OS,3_prime_UTR_variant,,ENST00000514254,;RP11-380L11.4,upstream_gene_variant,,ENST00000602952,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,upstream_gene_variant,,ENST00000538983,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,non_coding_transcript_exon_variant,,ENST00000545078,;	12195	95	100	SUCCESS
HEBP1	50865	.	GRCh37	12	13139868	13139868	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	13	0	ENST00000014930.4:c.398+218A>G		p.*133*	ENST00000014930	NM_015987.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31749.1	.	RADIA|MUTECT|MUSE	.	ATCAATTTGGC	NONE	.	.	.	.	.	ENSP00000014930	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000014930	Transcript	.	.	ENSG00000013583	17176	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEBP1_HUMAN	HEBP1	HGNC	F5GWX2_HUMAN	.	UPI0000038D71	SNV	HEBP1,3_prime_UTR_variant,,ENST00000536942,;HEBP1,intron_variant,,ENST00000014930,;HEBP1,intron_variant,,ENST00000535636,;RP11-392P7.6,downstream_gene_variant,,ENST00000607894,;RP11-392P7.6,downstream_gene_variant,,ENST00000499948,;RP11-392P7.6,downstream_gene_variant,,ENST00000542078,;	.	13	13	SUCCESS
KMT2D	8085	.	GRCh37	12	49427419	49427419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	54	0	ENST00000301067.7:c.11069G>T	p.Gly3690Val	p.G3690V	ENST00000301067	NM_003482.3	3690	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS44873.1	11069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	nonpreferredpair	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gly3690Val,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	11069	54	52	SUCCESS
KMT2D	8085	.	GRCh37	12	49427420	49427420	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	55	0	ENST00000301067.7:c.11068G>A	p.Gly3690Arg	p.G3690R	ENST00000301067	NM_003482.3	3690	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS44873.1	11068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCAGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	nonpreferredpair	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gly3690Arg,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	11068	55	52	SUCCESS
TNFRSF1A	7132	.	GRCh37	12	6443355	6443355	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	132	0	ENST00000162749.2:c.95C>A	p.Pro32His	p.P32H	ENST00000162749	NM_001065.3	32	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS8542.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAGGGACC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01918,hmmpanther:PTHR23097:SF110,hmmpanther:PTHR23097	.	.	ENSP00000162749	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000162749	Transcript	.	.	ENSG00000067182	11916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	TNR1A_HUMAN	TNFRSF1A	HGNC	J9PH39_HUMAN,F5H4T5_HUMAN	.	UPI000002CE11	SNV	TNFRSF1A,missense_variant,p.Pro32His,ENST00000366159,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000539372,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000536194,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000540022,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000162749,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000440083,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000535958,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000538363,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000437813,;TNFRSF1A,upstream_gene_variant,,ENST00000535038,;TNFRSF1A,upstream_gene_variant,,ENST00000543359,;TNFRSF1A,upstream_gene_variant,,ENST00000537842,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000543048,;TNFRSF1A,missense_variant,p.Pro32His,ENST00000543995,;TNFRSF1A,intron_variant,,ENST00000534885,;TNFRSF1A,upstream_gene_variant,,ENST00000536717,;	395	132	111	SUCCESS
APAF1	317	.	GRCh37	12	99060130	99060130	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs371633206	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	58	135	0	ENST00000551964.1:c.1357C>A	p.Leu453Ile	p.L453I	ENST00000551964	NM_181861.1	453	Ctt/Att	0	T:0	.	.	.	.	A	L/I	protein_coding	YES	CCDS9069.1	1357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCTTCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,PIRSF_domain:PIRSF037646	.	T:0.0001	ENSP00000448165	.	9/27	.	.	.	.	.	.	.	.	rs371633206,COSM2047226	9/27	nonpreferredpair	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.345)	.	tolerated(0.25)	0,1	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.Leu453Ile,ENST00000357310,;APAF1,missense_variant,p.Leu442Ile,ENST00000550527,;APAF1,missense_variant,p.Leu453Ile,ENST00000339433,;APAF1,missense_variant,p.Leu453Ile,ENST00000547045,;APAF1,missense_variant,p.Leu442Ile,ENST00000359972,;APAF1,missense_variant,p.Leu453Ile,ENST00000549007,;APAF1,missense_variant,p.Leu453Ile,ENST00000551964,;APAF1,intron_variant,,ENST00000552268,;APAF1,intron_variant,,ENST00000333991,;APAF1,upstream_gene_variant,,ENST00000555047,;	2093	135	177	SUCCESS
VPS36	51028	.	GRCh37	13	52992155	52992155	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	71	0	ENST00000378060.4:c.877A>G	p.Met293Val	p.M293V	ENST00000378060	NM_016075.2	293	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9434.1	877	MUTECT|MUSE	.	CAGCATCTTGC	NONE	.	.	hmmpanther:PTHR13128:SF12,hmmpanther:PTHR13128,Pfam_domain:PF04157,Gene3D:1.10.10.10,Superfamily_domains:SSF46785,Superfamily_domains:SSF46785	.	.	ENSP00000367299	.	11/14	.	.	.	.	.	.	.	.	.	11/14	nonpreferredpair	ENST00000378060	Transcript	.	.	ENSG00000136100	20312	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.24)	.	VPS36_HUMAN	VPS36	HGNC	.	.	UPI000013CFE6	SNV	VPS36,missense_variant,p.Met293Val,ENST00000378060,;VPS36,upstream_gene_variant,,ENST00000462289,;VPS36,upstream_gene_variant,,ENST00000497149,;	905	71	63	SUCCESS
HS6ST3	266722	.	GRCh37	13	97484795	97484795	+	synonymous_variant	Silent	SNP	C	C	T	rs368146960	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	68	0	ENST00000376705.2:c.759C>T	p.Ser253=	p.S253=	ENST00000376705	NM_153456.3	253	agC/agT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS9481.1	759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCGAGTG	NONE	byCluster	.	hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF3,Pfam_domain:PF03567,Superfamily_domains:SSF52540	.	T:0	ENSP00000365895	.	2/2	.	.	.	.	.	.	.	.	rs368146960	2/2	nonpreferredpair	ENST00000376705	Transcript	.	.	ENSG00000185352	19134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H6ST3_HUMAN	HS6ST3	HGNC	B3KX95_HUMAN	.	UPI00001AF933	SNV	HS6ST3,synonymous_variant,p.%3D,ENST00000376705,;	783	68	86	SUCCESS
SLC25A47	283600	.	GRCh37	14	100789705	100789705	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1595387452	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	13	0	ENST00000361529.3:c.-47G>A		p.*16*	ENST00000361529	NM_207117.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9959.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGCCCTC	NONE	.	.	.	.	.	ENSP00000354886	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000361529	Transcript	.	.	ENSG00000140107	20115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2547_HUMAN	SLC25A47	HGNC	G3V374_HUMAN	.	UPI000004ABFB	SNV	SLC25A47,5_prime_UTR_variant,,ENST00000557052,;SLC25A47,5_prime_UTR_variant,,ENST00000361529,;AL157871.1,upstream_gene_variant,,ENST00000583404,;RN7SL523P,upstream_gene_variant,,ENST00000484401,;	32	13	24	SUCCESS
APBA2	321	.	GRCh37	15	29398965	29398965	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	37	101	0	ENST00000558259.1:c.1860C>T	p.Ser620=	p.S620=	ENST00000558259	NM_005503.3	620	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10022.1	1860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCATCAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000453293	.	13/16	.	.	.	.	.	.	.	.	.	13/16	nonpreferredpair	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,synonymous_variant,p.%3D,ENST00000558259,;APBA2,synonymous_variant,p.%3D,ENST00000561069,;APBA2,synonymous_variant,p.%3D,ENST00000558402,;APBA2,synonymous_variant,p.%3D,ENST00000411764,;APBA2,synonymous_variant,p.%3D,ENST00000558330,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,downstream_gene_variant,,ENST00000382938,;	2459	101	117	SUCCESS
SPTBN5	51332	.	GRCh37	15	42158099	42158099	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	67	0	ENST00000320955.6:c.6825G>A		p.X2275_splice	ENST00000320955	NM_016642.3	2275	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS61599.1	6825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACCTCCTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150	.	.	ENSP00000317790	.	39/68	.	.	.	.	.	.	.	.	.	39/68	nonpreferredpair	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,synonymous_variant,p.%3D,ENST00000320955,;MIR4310,downstream_gene_variant,,ENST00000582950,;	7053	67	66	SUCCESS
HDC	3067	.	GRCh37	15	50534990	50534990	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778709808	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	71	0	ENST00000267845.3:c.1456C>T	p.Arg486Trp	p.R486W	ENST00000267845	NM_002112.3	486	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS10134.1	1456	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGAGGGC	NONE	byFrequency	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68	.	.	ENSP00000267845	.	12/12	.	.	.	.	.	.	.	.	rs778709808	12/12	nonpreferredpair	ENST00000267845	Transcript	.	.	ENSG00000140287	4855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.339)	.	deleterious(0)	.	DCHS_HUMAN	HDC	HGNC	.	.	UPI0000128FB4	SNV	HDC,missense_variant,p.Arg453Trp,ENST00000543581,;HDC,missense_variant,p.Arg486Trp,ENST00000267845,;RN7SL494P,downstream_gene_variant,,ENST00000461517,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;	1859	71	58	SUCCESS
KRTAP9-2	83899	.	GRCh37	17	39383348	39383348	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1340635882	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	151	0	ENST00000377721.3:c.442G>A	p.Ala148Thr	p.A148T	ENST00000377721	NM_031961.2	148	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32651.1	442	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF36	.	.	ENSP00000366950	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000377721	Transcript	.	.	ENSG00000239886	16926	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.51)	.	KRA92_HUMAN	KRTAP9-2	HGNC	Q6ISF6_HUMAN	.	UPI000013CE13	SNV	KRTAP9-2,missense_variant,p.Ala132Thr,ENST00000455970,;KRTAP9-2,missense_variant,p.Ala148Thr,ENST00000377721,;	449	151	121	SUCCESS
NEURL4	84461	.	GRCh37	17	7230299	7230299	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	55	0	ENST00000399464.2:c.823G>C	p.Val275Leu	p.V275L	ENST00000399464	NM_032442.2	275	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS42251.1	823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACCACCT	NONE	.	.	hmmpanther:PTHR12429:SF2,hmmpanther:PTHR12429	.	.	ENSP00000382390	.	4/29	.	.	.	.	.	.	.	.	.	4/29	nonpreferredpair	ENST00000399464	Transcript	.	.	ENSG00000215041	34410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.17)	.	NEUL4_HUMAN	NEURL4	HGNC	.	.	UPI000020081C	SNV	NEURL4,missense_variant,p.Val253Leu,ENST00000570460,;NEURL4,missense_variant,p.Val238Leu,ENST00000571887,;NEURL4,missense_variant,p.Val275Leu,ENST00000399464,;NEURL4,missense_variant,p.Val275Leu,ENST00000315614,;NEURL4,intron_variant,,ENST00000573186,;NEURL4,upstream_gene_variant,,ENST00000576485,;NEURL4,upstream_gene_variant,,ENST00000571508,;NEURL4,upstream_gene_variant,,ENST00000576966,;NEURL4,upstream_gene_variant,,ENST00000571243,;NEURL4,upstream_gene_variant,,ENST00000573651,;AC026954.6,upstream_gene_variant,,ENST00000429771,;	839	55	28	SUCCESS
TP53	7157	.	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs786201838	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	123	0	ENST00000269305.4:c.578A>G	p.His193Arg	p.H193R	ENST00000269305	NM_001126112.2	193	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS11118.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATGCTGA	SITE|p.H193R|c.578A>G|8,SITE|p.H193R|c.578A>G|89,SITE|p.H61R|c.182A>G|23,SITE|p.H193R|c.578A>G|21,SITE|p.H193R|c.578A>G|22,SITE|p.H100R|c.299A>G|22,SITE|p.H193R|c.578A>G|5,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.H193fs*16|c.577_578insN|3,CODON|p.H193L|c.578A>T|8,CODON|p.H61P|c.182A>C|4,CODON|p.H100L|c.299A>T|8,CODON|p.H193L|c.578A>T|8,CODON|p.H100P|c.299A>C|4,CODON|p.H193P|c.578A>C|4,CODON|p.H193L|c.578A>T|3,CODON|p.H193L|c.578A>T|3,CODON|p.H193P|c.578A>C|16,CODON|p.H193P|c.578A>C|3,CODON|p.H193L|c.578A>T|37,CODON|p.H61L|c.182A>T|10,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM083194,CM951225,TP53_g.12647A>T,TP53_g.12647A>C,TP53_g.12647A>G,COSM10742,COSM11066,COSM43833,COSM308307,COSM99919,COSM131458,COSM131459,COSM99916,COSM308306,COSM99917,COSM308308,COSM131461,COSM3820719,COSM3970355,COSM3732881,COSM1740322,COSM2744772,COSM3970354,COSM308309,COSM131460,COSM99918	6/11	nonpreferredpair	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.His193Arg,ENST00000413465,;TP53,missense_variant,p.His193Arg,ENST00000420246,;TP53,missense_variant,p.His193Arg,ENST00000269305,;TP53,missense_variant,p.His61Arg,ENST00000509690,;TP53,missense_variant,p.His193Arg,ENST00000359597,;TP53,missense_variant,p.His100Arg,ENST00000514944,;TP53,missense_variant,p.His193Arg,ENST00000445888,;TP53,missense_variant,p.His193Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	768	123	65	SUCCESS
PALM3	342979	.	GRCh37	19	14167259	14167259	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs998902486	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	81	0	ENST00000340790.4:c.336G>T	p.Arg112Ser	p.R112S	ENST00000340790	NM_001145028.1	112	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46001.1	336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCTGCC	NONE	.	.	hmmpanther:PTHR10498:SF6,hmmpanther:PTHR10498	.	.	ENSP00000344996	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000340790	Transcript	.	.	ENSG00000187867	33274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.02)	.	PALM3_HUMAN	PALM3	HGNC	K7EKN5_HUMAN	.	UPI0001662AC1	SNV	PALM3,missense_variant,p.Arg112Ser,ENST00000340790,;PALM3,missense_variant,p.Arg61Ser,ENST00000589048,;IL27RA,downstream_gene_variant,,ENST00000263379,;PALM3,non_coding_transcript_exon_variant,,ENST00000586368,;	336	81	54	SUCCESS
LHB	3972	.	GRCh37	19	49519808	49519808	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	60	0	ENST00000221421.2:c.179C>A	p.Thr60Asn	p.T60N	ENST00000221421	NM_000894.2	60	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS12748.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGTGGGG	NONE	.	.	hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12,PROSITE_patterns:PS00261,Gene3D:2.10.90.10,Pfam_domain:PF00007,SMART_domains:SM00068,Superfamily_domains:SSF57501	.	.	ENSP00000221421	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000221421	Transcript	1	.	ENSG00000104826	6584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0)	.	LSHB_HUMAN	LHB	HGNC	Q8WXL0_HUMAN	.	UPI00000378AB	SNV	LHB,missense_variant,p.Thr60Asn,ENST00000221421,;RUVBL2,downstream_gene_variant,,ENST00000595090,;RUVBL2,downstream_gene_variant,,ENST00000413176,;RUVBL2,downstream_gene_variant,,ENST00000601968,;CTB-60B18.10,downstream_gene_variant,,ENST00000600007,;RUVBL2,downstream_gene_variant,,ENST00000595002,;RUVBL2,downstream_gene_variant,,ENST00000596247,;RUVBL2,downstream_gene_variant,,ENST00000221413,;RUVBL2,downstream_gene_variant,,ENST00000594338,;	179	60	82	SUCCESS
CACNG7	59284	.	GRCh37	19	54417766	54417766	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	29	128	0	ENST00000222212.2:c.209G>T	p.Gly70Val	p.G70V	ENST00000222212	NM_031896.4	70	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12868.1	209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGGTCGCT	NONE	.	.	Pfam_domain:PF00822,hmmpanther:PTHR12107:SF3,hmmpanther:PTHR12107	.	.	ENSP00000375647	.	3/6	.	.	.	.	.	.	.	.	COSM1396187,COSM1326192	3/6	nonpreferredpair	ENST00000391767	Transcript	.	.	ENSG00000105605	13626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.992)	.	deleterious(0.01)	1,1	CCG7_HUMAN	CACNG7	HGNC	.	.	UPI00000010F1	SNV	CACNG7,missense_variant,p.Gly70Val,ENST00000391766,;CACNG7,missense_variant,p.Gly70Val,ENST00000391767,;CACNG7,missense_variant,p.Gly70Val,ENST00000222212,;CACNG7,intron_variant,,ENST00000468076,;	421	128	120	SUCCESS
ZNF559	84527	.	GRCh37	19	9453375	9453375	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	43	137	0	ENST00000393883.2:c.1248A>C	p.Lys416Asn	p.K416N	ENST00000393883	NM_001202412.1	416	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS12211.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAAAGCCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF77,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000377461	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000393883	Transcript	.	.	ENSG00000188321	28197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ZN559_HUMAN	ZNF559	HGNC	S4R3F2_HUMAN,K7ERK9_HUMAN,B4DP29_HUMAN	.	UPI00000733B2	SNV	ZNF559,missense_variant,p.Lys336Asn,ENST00000538743,;ZNF559,missense_variant,p.Lys416Asn,ENST00000393883,;ZNF559,missense_variant,p.Lys416Asn,ENST00000603380,;ZNF559,missense_variant,p.Lys480Asn,ENST00000587557,;ZNF559,missense_variant,p.Lys402Asn,ENST00000605750,;ZNF559,3_prime_UTR_variant,,ENST00000317221,;ZNF177,intron_variant,,ENST00000602856,;ZNF559,intron_variant,,ENST00000586255,;ZNF559-ZNF177,intron_variant,,ENST00000603656,;ZNF177,intron_variant,,ENST00000602738,;ZNF559,intron_variant,,ENST00000591652,;ZNF559-ZNF177,intron_variant,,ENST00000446085,;ZNF559-ZNF177,intron_variant,,ENST00000541595,;ZNF559,downstream_gene_variant,,ENST00000592896,;ZNF559,downstream_gene_variant,,ENST00000589208,;ZNF559,downstream_gene_variant,,ENST00000585377,;ZNF559,downstream_gene_variant,,ENST00000592504,;ZNF559,downstream_gene_variant,,ENST00000592298,;ZNF559,downstream_gene_variant,,ENST00000588124,;ZNF559,downstream_gene_variant,,ENST00000585352,;CTC-325H20.2,upstream_gene_variant,,ENST00000592371,;ZNF559-ZNF177,intron_variant,,ENST00000605301,;ZNF559-ZNF177,intron_variant,,ENST00000605522,;ZNF559-ZNF177,intron_variant,,ENST00000605471,;ZNF559-ZNF177,intron_variant,,ENST00000603099,;ZNF559-ZNF177,intron_variant,,ENST00000605775,;ZNF559-ZNF177,intron_variant,,ENST00000603974,;ZNF559-ZNF177,intron_variant,,ENST00000604886,;ZNF559-ZNF177,intron_variant,,ENST00000605093,;ZNF559-ZNF177,intron_variant,,ENST00000593242,;ZNF559-ZNF177,intron_variant,,ENST00000604543,;ZNF559-ZNF177,intron_variant,,ENST00000605071,;ZNF559-ZNF177,intron_variant,,ENST00000603024,;ZNF559-ZNF177,intron_variant,,ENST00000605006,;	1896	137	82	SUCCESS
HAPLN2	60484	.	GRCh37	1	156594411	156594411	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	32	0	ENST00000255039.1:c.575A>G	p.Asp192Gly	p.D192G	ENST00000255039	NM_021817.2	192	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1148.1	575	MUTECT|MUSE	.	TCTGGACTGGT	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF8,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436,Prints_domain:PR01265	.	.	ENSP00000255039	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000255039	Transcript	.	.	ENSG00000132702	17410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	HPLN2_HUMAN	HAPLN2	HGNC	Q5T3J1_HUMAN,Q5T3J0_HUMAN	.	UPI00000012E0	SNV	HAPLN2,missense_variant,p.Asp192Gly,ENST00000255039,;HAPLN2,downstream_gene_variant,,ENST00000456112,;HAPLN2,non_coding_transcript_exon_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000482204,;HAPLN2,downstream_gene_variant,,ENST00000487988,;	982	32	49	SUCCESS
CEP350	9857	.	GRCh37	1	180062616	180062617	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	303	134	222	0	ENST00000367607.3:c.7376_7377insT	p.Lys2459AsnfsTer5	p.K2459Nfs*5	ENST00000367607	NM_014810.4	2459	aag/aaTg	0	.	.	.	.	.	T	K/NX	protein_coding	YES	CCDS1336.1	7376-7377	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCAAGTCCC	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	34/38	.	.	.	.	.	.	.	.	.	34/38	nonpreferredpair	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	insertion	CEP350,frameshift_variant,p.Lys634AsnfsTer5,ENST00000429851,;CEP350,frameshift_variant,p.Lys2459AsnfsTer5,ENST00000367607,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,downstream_gene_variant,,ENST00000484356,;CEP350,upstream_gene_variant,,ENST00000496440,;	7794-7795	222	437	SUCCESS
LAD1	3898	.	GRCh37	1	201351823	201351823	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	47	0	ENST00000391967.2:c.1431G>A	p.Leu477=	p.L477=	ENST00000391967	NM_005558.3	477	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1410.1	1431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACAGGTT	NONE	.	.	hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144	.	.	ENSP00000375829	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000391967	Transcript	.	.	ENSG00000159166	6472	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAD1_HUMAN	LAD1	HGNC	.	.	UPI000006CD59	SNV	LAD1,synonymous_variant,p.%3D,ENST00000391967,;LAD1,synonymous_variant,p.%3D,ENST00000367313,;LAD1,synonymous_variant,p.%3D,ENST00000503578,;TNNT2,upstream_gene_variant,,ENST00000509001,;LAD1,non_coding_transcript_exon_variant,,ENST00000488842,;LAD1,non_coding_transcript_exon_variant,,ENST00000475136,;	1733	47	52	SUCCESS
MIR320B2	100313769	.	GRCh37	1	224444769	224444769	+	mature_miRNA_variant	RNA	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	382	133	325	0	ENST00000408479.1:n.75A>G		p.*25*	ENST00000408479				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1541.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTTTTCC	NONE	.	.	.	.	.	ENSP00000281701	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000281701	Transcript	.	.	ENSG00000143748	8070	.	.	MODIFIER	18/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NVL_HUMAN	NVL	HGNC	Q96PA2_HUMAN	.	UPI0000073F3E	SNV	NVL,intron_variant,,ENST00000482491,;NVL,intron_variant,,ENST00000361463,;NVL,intron_variant,,ENST00000340871,;NVL,intron_variant,,ENST00000391875,;NVL,intron_variant,,ENST00000281701,;NVL,intron_variant,,ENST00000469968,;NVL,intron_variant,,ENST00000469075,;MIR320B2,mature_miRNA_variant,,ENST00000408479,;NVL,intron_variant,,ENST00000489194,;NVL,intron_variant,,ENST00000496393,;	.	325	516	SUCCESS
OBSCN	84033	.	GRCh37	1	228487681	228487681	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	19	0	ENST00000422127.1:c.11659+4937G>T		p.*3887*	ENST00000422127	NM_001098623.2	4525		0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS59204.1	13573	MUTECT|MUSE	.	CCGTGGAGTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	51/116	.	.	.	.	.	.	.	.	.	51/116	nonpreferredpair	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,stop_gained,p.Glu1215Ter,ENST00000366707,;OBSCN,stop_gained,p.Glu1372Ter,ENST00000483539,;OBSCN,stop_gained,p.Glu4525Ter,ENST00000570156,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000366709,;OBSCN,intron_variant,,ENST00000284548,;OBSCN,intron_variant,,ENST00000422127,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,non_coding_transcript_exon_variant,,ENST00000602685,;OBSCN,upstream_gene_variant,,ENST00000602832,;OBSCN,downstream_gene_variant,,ENST00000494839,;	13647	19	33	SUCCESS
C1orf94	84970	.	GRCh37	1	34643282	34643282	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	16	0	ENST00000488417.1:c.-109C>A		p.*37*	ENST00000488417	NM_001134734.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44108.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCCTCCC	NONE	.	.	.	.	.	ENSP00000435634	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,5_prime_UTR_variant,,ENST00000488417,;C1orf94,intron_variant,,ENST00000373374,;AC115286.1,upstream_gene_variant,,ENST00000408126,;	12	16	17	SUCCESS
MRPS15	64960	.	GRCh37	1	36923570	36923570	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376585999	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	124	0	ENST00000373116.5:c.398C>G	p.Ser133Cys	p.S133C	ENST00000373116	NM_031280.3	133	tCt/tGt	0	C:0	.	.	.	.	C	S/C	protein_coding	YES	CCDS411.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAGACAAG	NONE	.	.	Superfamily_domains:SSF47060,Pfam_domain:PF00312,Gene3D:1.10.287.10,hmmpanther:PTHR23321:SF26,hmmpanther:PTHR23321,HAMAP:MF_01343_B	.	C:0.0001	ENSP00000362208	.	6/8	.	.	.	.	.	.	.	.	rs376585999	6/8	nonpreferredpair	ENST00000373116	Transcript	.	.	ENSG00000116898	14504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	RT15_HUMAN	MRPS15	HGNC	D3DPS9_HUMAN	.	UPI0000135287	SNV	MRPS15,missense_variant,p.Ser133Cys,ENST00000373116,;MRPS15,non_coding_transcript_exon_variant,,ENST00000462067,;MRPS15,non_coding_transcript_exon_variant,,ENST00000488606,;MRPS15,upstream_gene_variant,,ENST00000477040,;	560	124	117	SUCCESS
CYP4A22	284541	.	GRCh37	1	47609480	47609481	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	145	48	155	0	ENST00000371891.3:c.688dup	p.Cys230LeufsTer9	p.C230Lfs*9	ENST00000371891	NM_001010969.2	228	gtt/gTtt	0	.	.	.	.	.	T	V/VX	protein_coding	YES	CCDS30707.1	682-683	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTGGTTTTT	NONE	.	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360958	.	6/12	.	.	.	.	.	.	.	.	.	6/12	nonpreferredpair	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	insertion	CYP4A22,frameshift_variant,p.Cys230LeufsTer9,ENST00000294337,;CYP4A22,frameshift_variant,p.Cys230LeufsTer9,ENST00000371891,;CYP4A22,intron_variant,,ENST00000371890,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,intron_variant,,ENST00000490948,;	713-714	155	193	SUCCESS
ITGB3BP	23421	.	GRCh37	1	63974243	63974243	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs969231213	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	96	264	0	ENST00000271002.10:c.6-2A>G		p.X2_splice	ENST00000271002	NM_014288.4	2		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55603.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACTACAAA	NONE	.	.	.	.	.	ENSP00000360133	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000371092	Transcript	.	.	ENSG00000142856	6157	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPR_HUMAN	ITGB3BP	HGNC	D3DQ59_HUMAN	.	UPI0000470389	SNV	ITGB3BP,splice_acceptor_variant,,ENST00000371092,;ITGB3BP,splice_acceptor_variant,,ENST00000271002,;ITGB3BP,splice_acceptor_variant,,ENST00000283568,;ITGB3BP,splice_acceptor_variant,,ENST00000465781,;ITGB3BP,splice_acceptor_variant,,ENST00000478138,;ITGB3BP,splice_acceptor_variant,,ENST00000460251,;ITGB3BP,splice_acceptor_variant,,ENST00000460394,;ITGB3BP,splice_acceptor_variant,,ENST00000462285,;ITGB3BP,intron_variant,,ENST00000489863,;ITGB3BP,splice_acceptor_variant,,ENST00000489099,;	.	264	300	SUCCESS
DEPDC1	55635	.	GRCh37	1	68944871	68944874	+	frameshift_variant	Frame_Shift_Del	DEL	GTAA	GTAA	-	rs760374659	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	GTAA	GTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	112	52	155	0	ENST00000456315.2:c.2065_2068del	p.Leu689ArgfsTer11	p.L689Rfs*11	ENST00000456315	NM_001114120.1	689	TTACag/ag	0	.	.	.	.	.	-	LQ/X	protein_coding	YES	CCDS44159.1	2065-2068	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTCTGTAAGTAAG	NONE	byFrequency	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12	.	.	ENSP00000412292	.	10/12	.	.	.	.	.	.	.	.	rs760374659	10/12	nonpreferredpair	ENST00000456315	Transcript	.	.	ENSG00000024526	22949	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	deletion	DEPDC1,frameshift_variant,p.Leu689ArgfsTer11,ENST00000456315,;DEPDC1,frameshift_variant,p.Leu405ArgfsTer11,ENST00000370966,;RP4-694A7.2,non_coding_transcript_exon_variant,,ENST00000425820,;DEPDC1,3_prime_UTR_variant,,ENST00000489862,;DEPDC1,non_coding_transcript_exon_variant,,ENST00000488146,;	2180-2183	155	164	SUCCESS
GPR157	80045	.	GRCh37	1	9188904	9188904	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	35	0	ENST00000377411.4:c.183C>T	p.Ala61=	p.A61=	ENST00000377411	NM_024980.4	61	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS100.2	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGGCCGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,PROSITE_profiles:PS50262,hmmpanther:PTHR23112,hmmpanther:PTHR23112:SF12,Gene3D:1.20.1070.10,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000366628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000377411	Transcript	.	.	ENSG00000180758	23687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP157_HUMAN	GPR157	HGNC	.	.	UPI0000044DD4	SNV	GPR157,synonymous_variant,p.%3D,ENST00000414642,;GPR157,synonymous_variant,p.%3D,ENST00000377411,;GPR157,upstream_gene_variant,,ENST00000466131,;	326	35	41	SUCCESS
DPYD	1806	.	GRCh37	1	98164998	98164998	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764635955	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	49	168	0	ENST00000370192.3:c.589C>T	p.Pro197Ser	p.P197S	ENST00000370192	NM_000110.3	197	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30777.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGCCCAG	NONE	byFrequency	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Pfam_domain:PF13450,Gene3D:3.50.50.60,Superfamily_domains:SSF51971,Superfamily_domains:SSF46548,Prints_domain:PR00419	.	.	ENSP00000359211	.	6/23	.	.	.	.	.	.	.	.	rs764635955	6/23	nonpreferredpair	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Pro197Ser,ENST00000370192,;DPYD,3_prime_UTR_variant,,ENST00000423006,;DPYD,non_coding_transcript_exon_variant,,ENST00000474241,;	690	168	157	SUCCESS
LPPR4	0	.	GRCh37	1	99771771	99771771	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	109	0	ENST00000370185.3:c.1497T>C	p.Asn499=	p.N499=	ENST00000370185	NM_014839.4	499	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS757.1	1497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAATCAGTA	NONE	.	.	.	.	.	ENSP00000359204	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000370185	Transcript	.	.	ENSG00000117600	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPPR4_HUMAN	LPPR4	Uniprot_gn	.	.	UPI0000161229	SNV	LPPR4,synonymous_variant,p.%3D,ENST00000370185,;LPPR4,synonymous_variant,p.%3D,ENST00000457765,;LPPR4,synonymous_variant,p.%3D,ENST00000370184,;	1994	109	94	SUCCESS
PLK1S1	0	.	GRCh37	20	21142904	21142904	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	110	1	ENST00000457464.1:n.462T>A		p.*154*	ENST00000457464				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTGAAGG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000591761	Transcript	.	.	ENSG00000232712	.	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP4-777D9.2	Clone_based_vega_gene	.	.	.	SNV	RP4-777D9.2,intron_variant,,ENST00000591761,;RP5-872K7.7,intron_variant,,ENST00000425746,;RP5-872K7.7,upstream_gene_variant,,ENST00000434043,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000428699,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000458446,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000445992,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000457464,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000424111,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000427692,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000432487,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000447448,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000246027,;RPS15AP1,downstream_gene_variant,,ENST00000457423,;	.	111	109	SUCCESS
NOP56	10528	.	GRCh37	20	2635458	2635458	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	59	0	ENST00000329276.5:c.434A>G	p.Gln145Arg	p.Q145R	ENST00000329276	NM_006392.3	145	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13030.1	434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGCTGG	NONE	.	.	hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894	.	.	ENSP00000370589	.	5/12	.	.	.	.	.	.	.	.	.	5/12	nonpreferredpair	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.465)	.	deleterious(0.01)	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,missense_variant,p.Gln145Arg,ENST00000445139,;NOP56,missense_variant,p.Gln145Arg,ENST00000329276,;IDH3B,downstream_gene_variant,,ENST00000380851,;IDH3B,downstream_gene_variant,,ENST00000380843,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORD86,upstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORA51,upstream_gene_variant,,ENST00000606420,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,upstream_gene_variant,,ENST00000413522,;NOP56,non_coding_transcript_exon_variant,,ENST00000480992,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000492240,;NOP56,upstream_gene_variant,,ENST00000480447,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000492135,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000470143,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,upstream_gene_variant,,ENST00000467196,;	950	59	49	SUCCESS
ODC1	4953	.	GRCh37	2	10581663	10581663	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	95	128	0	ENST00000234111.4:c.1213A>G	p.Ile405Val	p.I405V	ENST00000234111	NM_002539.1	405	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1672.1	1213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATCGTCG	NONE	.	.	hmmpanther:PTHR11482:SF42,hmmpanther:PTHR11482,Pfam_domain:PF00278,Gene3D:2.40.37.10,Superfamily_domains:SSF50621	.	.	ENSP00000234111	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000234111	Transcript	.	.	ENSG00000115758	8109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.43)	.	DCOR_HUMAN	ODC1	HGNC	C9JG30_HUMAN	.	UPI0000001283	SNV	ODC1,missense_variant,p.Ile405Val,ENST00000234111,;ODC1,missense_variant,p.Ile405Val,ENST00000405333,;ODC1,downstream_gene_variant,,ENST00000443218,;ODC1,downstream_gene_variant,,ENST00000446285,;	1724	128	136	SUCCESS
THSD7B	80731	.	GRCh37	2	137814010	137814010	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	60	0	ENST00000272643.3:c.160G>C	p.Gly54Arg	p.G54R	ENST00000272643		54	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	.	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACAGGAGAC	BUFFER|p.G23E|c.68G>A|3,BUFFER|p.G54E|c.161G>A|3	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,SMART_domains:SM00209	.	.	ENSP00000272643	.	2/28	.	.	.	.	.	.	.	.	.	2/28	nonpreferredpair	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Gly54Arg,ENST00000409968,;THSD7B,missense_variant,p.Gly23Arg,ENST00000413152,;THSD7B,missense_variant,p.Gly54Arg,ENST00000272643,;THSD7B,upstream_gene_variant,,ENST00000543459,;THSD7B,3_prime_UTR_variant,,ENST00000472720,;	160	60	46	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098960	178098974	+	inframe_deletion	In_Frame_Del	DEL	CTATATCTTGCCTCC	CTATATCTTGCCTCC	-	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	CTATATCTTGCCTCC	CTATATCTTGCCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	33	130	103	0	ENST00000397062.3:c.71_85del	p.Trp24_Asp29delinsTyr	p.W24_D29delinsY	ENST00000397062	NM_006164.4	24	tGGAGGCAAGATATAGat/tat	0	.	.	.	.	.	-	WRQDID/Y	protein_coding	YES	CCDS42782.1	71-85	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGATCTATATCTTGCCTCCAAAGT	CODON|p.L30F|c.88C>T|6,CODON|p.D29G|c.86A>G|11,CODON|p.D29H|c.85G>C|12,CODON|p.D29N|c.85G>A|3,CODON|p.D29Y|c.85G>T|4,CODON|p.D27G|c.80A>G|3,CODON|p.W24C|c.72G>C|5,BUFFER|p.G31E|c.92G>A|5,BUFFER|p.G31A|c.92G>C|7,BUFFER|p.L30R|c.89T>G|7	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	deletion	NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000449627,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000423513,;NFE2L2,inframe_deletion,p.Trp24_Asp29delinsTyr,ENST00000397062,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000446151,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000588123,;NFE2L2,inframe_deletion,p.Trp23_Asp28delinsTyr,ENST00000586532,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000421929,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000464747,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000448782,;NFE2L2,inframe_deletion,p.Trp8_Asp13delinsTyr,ENST00000397063,;NFE2L2,splice_region_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	626-640	103	163	SUCCESS
PLCL1	5334	.	GRCh37	2	198949734	198949734	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1236965488	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	111	143	0	ENST00000428675.1:c.1493C>T	p.Pro498Leu	p.P498L	ENST00000428675	NM_006226.3	498	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2326.2	1493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCGCAGC	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,Superfamily_domains:SSF51695	.	.	ENSP00000402861	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,missense_variant,p.Pro424Leu,ENST00000487695,;PLCL1,missense_variant,p.Pro498Leu,ENST00000428675,;PLCL1,missense_variant,p.Pro400Leu,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	1891	143	152	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218925128	218925128	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	68	0	ENST00000439871.1:n.1253C>T		p.*418*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GGCAGGGAGTC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,non_coding_transcript_exon_variant,,ENST00000443392,;	1253	68	55	SUCCESS
BBX	56987	.	GRCh37	3	107510138	107510138	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138504832	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	52	225	0	ENST00000325805.8:c.2345C>T	p.Pro782Leu	p.P782L	ENST00000325805		782	cCt/cTt	0	A:0.0002	.	.	.	.	T	P/L	protein_coding	YES	CCDS46881.1	2345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCTACAG	NONE	byCluster	.	hmmpanther:PTHR13059	.	A:0	ENSP00000319974	.	15/18	.	.	.	.	.	.	.	.	rs138504832	15/18	nonpreferredpair	ENST00000325805	Transcript	.	.	ENSG00000114439	14422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated(0.13)	.	BBX_HUMAN	BBX	HGNC	Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN	.	UPI000007315E	SNV	BBX,missense_variant,p.Pro752Leu,ENST00000415149,;BBX,missense_variant,p.Pro782Leu,ENST00000325805,;BBX,missense_variant,p.Pro54Leu,ENST00000443253,;BBX,missense_variant,p.Pro752Leu,ENST00000406780,;BBX,synonymous_variant,p.%3D,ENST00000416476,;BBX,intron_variant,,ENST00000402543,;BBX,non_coding_transcript_exon_variant,,ENST00000473542,;	2632	225	223	SUCCESS
PLCXD2	257068	.	GRCh37	3	111393932	111393932	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	9	0	ENST00000477665.1:c.-161T>C		p.*54*	ENST00000477665	NM_001185106.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54619.1	.	MUTECT|MUSE	.	GCTAGTGGGTA	NONE	.	.	.	.	.	ENSP00000420686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,5_prime_UTR_variant,,ENST00000477665,;PLCXD2,5_prime_UTR_variant,,ENST00000393934,;PLCXD2-AS1,downstream_gene_variant,,ENST00000493131,;	164	9	15	SUCCESS
COPG1	22820	.	GRCh37	3	128973580	128973580	+	synonymous_variant	Silent	SNP	C	C	A	rs1416895782	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	48	0	ENST00000314797.6:c.393C>A	p.Ile131=	p.I131=	ENST00000314797	NM_016128.3	131	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33851.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCACTGA	CODON|p.I131I|c.393C>T|3	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037093,Pfam_domain:PF01602,Gene3D:1.25.10.10,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	.	ENSP00000325002	.	6/24	.	.	.	.	.	.	.	.	COSM1752894	6/24	nonpreferredpair	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,synonymous_variant,p.%3D,ENST00000314797,;COPG1,3_prime_UTR_variant,,ENST00000504350,;COPG1,non_coding_transcript_exon_variant,,ENST00000509208,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,downstream_gene_variant,,ENST00000513965,;	497	48	44	SUCCESS
GPR87	53836	.	GRCh37	3	151017871	151017871	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	86	0	ENST00000260843.4:c.18G>T	p.Thr6=	p.T6=	ENST00000260843	NM_023915.3	6	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3157.1	18	MUTECT|MUSE	.	GCAAGCGTCAA	NONE	.	.	.	.	.	ENSP00000260843	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000260843	Transcript	.	.	ENSG00000138271	4538	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR87_HUMAN	GPR87	HGNC	.	.	UPI000003C9FF	SNV	GPR87,synonymous_variant,p.%3D,ENST00000260843,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000491549,;	483	86	81	SUCCESS
NLGN1	22871	.	GRCh37	3	173998534	173998534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	39	167	0	ENST00000457714.1:c.1913C>A	p.Pro638His	p.P638H	ENST00000457714	NM_014932.3	638	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3222.1	1913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCTACGA	NONE	.	.	.	.	.	ENSP00000392500	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0.01)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Pro678His,ENST00000401917,;NLGN1,missense_variant,p.Pro638His,ENST00000457714,;NLGN1,missense_variant,p.Pro638His,ENST00000361589,;NLGN1,missense_variant,p.Pro638His,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;	2342	167	142	SUCCESS
SETD2	29072	.	GRCh37	3	47098921	47098921	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	130	0	ENST00000409792.3:c.6353C>T	p.Thr2118Ile	p.T2118I	ENST00000409792	NM_014159.6	2118	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2749.2	6353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGTAGAA	NONE	.	.	.	.	.	ENSP00000386759	.	15/21	.	.	.	.	.	.	.	.	.	15/21	nonpreferredpair	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Thr2118Ile,ENST00000409792,;SETD2,downstream_gene_variant,,ENST00000492397,;SETD2,3_prime_UTR_variant,,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;	6396	130	92	SUCCESS
DNAH12	201625	.	GRCh37	3	57454649	57454649	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	49	119	1	ENST00000351747.2:c.2163A>G	p.Glu721=	p.E721=	ENST00000351747	NM_178504.4	721	gaA/gaG	0	.	.	.	.	.	C	.	snoRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCTTCCAC	NONE	.	1223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000459308	Transcript	.	.	ENSG00000238905	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	snoU13	RFAM	.	.	.	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000389536,;DNAH12,synonymous_variant,p.%3D,ENST00000495027,;snoU13,downstream_gene_variant,,ENST00000459308,;	.	120	128	SUCCESS
ROBO1	6091	.	GRCh37	3	78685014	78685014	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	57	185	0	ENST00000464233.1:c.3282T>C	p.Ser1094=	p.S1094=	ENST00000464233	NM_002941.3	1094	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS54611.1	3282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCAGAGTC	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,Low_complexity_(Seg):seg	.	.	ENSP00000420321	.	23/31	.	.	.	.	.	.	.	.	.	23/31	nonpreferredpair	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,synonymous_variant,p.%3D,ENST00000464233,;ROBO1,synonymous_variant,p.%3D,ENST00000495273,;ROBO1,synonymous_variant,p.%3D,ENST00000436010,;ROBO1,synonymous_variant,p.%3D,ENST00000467549,;ROBO1,upstream_gene_variant,,ENST00000472273,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	3396	185	172	SUCCESS
OR5H14	403273	.	GRCh37	3	97868346	97868346	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	346	182	541	2	ENST00000437310.1:c.117C>A	p.Ile39=	p.I39=	ENST00000437310	NM_001005514.1	39	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS33798.1	117	RADIA|SOMATICSNIPER|VARSCANS	.	ACCATCATGGG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,synonymous_variant,p.%3D,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	177	543	529	SUCCESS
C4orf45	152940	.	GRCh37	4	159956182	159956182	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	141	0	ENST00000434826.2:c.64+3A>G		p.X22_splice	ENST00000434826	NM_152543.2	22		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47156.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTTACCTG	NONE	.	.	.	.	.	ENSP00000412215	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	LOW	1/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,splice_region_variant,,ENST00000434826,;C4orf45,intron_variant,,ENST00000508011,;	.	141	91	SUCCESS
TENM3	55714	.	GRCh37	4	183659598	183659598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	46	151	0	ENST00000511685.1:c.3280T>C	p.Trp1094Arg	p.W1094R	ENST00000511685		1094	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS47165.1	3280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTGGGAA	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	18/28	.	.	.	.	.	.	.	.	.	18/28	nonpreferredpair	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0.01)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Trp1094Arg,ENST00000511685,;TENM3,missense_variant,p.Trp1094Arg,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	3403	151	146	SUCCESS
PPEF2	5470	.	GRCh37	4	76794280	76794280	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs747832342	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	19	79	0	ENST00000286719.7:c.1506G>T	p.Lys502Asn	p.K502N	ENST00000286719	NM_006239.2	502	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34013.1	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCTTGCG	NONE	.	.	Prints_domain:PR00114,Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214	.	.	ENSP00000286719	.	12/17	.	.	.	.	.	.	.	.	rs747832342,COSM3605878	12/17	nonpreferredpair	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,missense_variant,p.Lys502Asn,ENST00000286719,;PPEF2,splice_region_variant,,ENST00000511880,;	1863	79	89	SUCCESS
EIF4E	1977	.	GRCh37	4	99850144	99850144	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	58	0	ENST00000280892.6:c.-21C>G		p.*7*	ENST00000280892	NM_001130678.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54779.1	.	RADIA|MUTECT|MUSE	.	GCAAGGGGTAC	NONE	.	.	.	.	.	ENSP00000425561	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000505992	Transcript	1	.	ENSG00000151247	3287	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IF4E_HUMAN	EIF4E	HGNC	D6RFJ3_HUMAN	.	UPI00017BAF0A	SNV	EIF4E,5_prime_UTR_variant,,ENST00000280892,;EIF4E,intron_variant,,ENST00000504432,;EIF4E,intron_variant,,ENST00000450253,;EIF4E,intron_variant,,ENST00000511644,;EIF4E,intron_variant,,ENST00000505992,;AC019131.1,downstream_gene_variant,,ENST00000459306,;RP11-571L19.7,intron_variant,,ENST00000583654,;EIF4E,intron_variant,,ENST00000418385,;EIF4E,intron_variant,,ENST00000504472,;EIF4E,intron_variant,,ENST00000515638,;EIF4E,intron_variant,,ENST00000507665,;	.	58	42	SUCCESS
WDR36	134430	.	GRCh37	5	110456277	110456277	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748204022	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	92	0	ENST00000506538.2:c.2156C>A	p.Thr719Asn	p.T719N	ENST00000506538	NM_139281.2	719	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS4102.1	2156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTACTTGTC	NONE	.	.	hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2	.	.	ENSP00000423067	.	18/23	.	.	.	.	.	.	.	.	rs748204022	18/23	nonpreferredpair	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.02)	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,missense_variant,p.Thr719Asn,ENST00000513710,;WDR36,missense_variant,p.Thr719Asn,ENST00000506538,;	2729	92	101	SUCCESS
MYOT	9499	.	GRCh37	5	137219116	137219116	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	54	158	1	ENST00000239926.4:c.860G>T	p.Gly287Val	p.G287V	ENST00000239926	NM_006790.2	287	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4194.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGAAGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000239926	.	7/10	.	.	.	.	.	.	.	.	COSM1216495	7/10	nonpreferredpair	ENST00000239926	Transcript	1	.	ENSG00000120729	12399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	MYOTI_HUMAN	MYOT	HGNC	B4DT68_HUMAN	.	UPI000013CA96	SNV	MYOT,missense_variant,p.Gly287Val,ENST00000239926,;MYOT,missense_variant,p.Gly103Val,ENST00000421631,;MYOT,missense_variant,p.Gly172Val,ENST00000515645,;PKD2L2,upstream_gene_variant,,ENST00000503015,;RP11-381K20.2,non_coding_transcript_exon_variant,,ENST00000508281,;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,intron_variant,,ENST00000509812,;MYOT,non_coding_transcript_exon_variant,,ENST00000511254,;MYOT,non_coding_transcript_exon_variant,,ENST00000503748,;MYOT,upstream_gene_variant,,ENST00000508938,;	1234	159	180	SUCCESS
ANKHD1	54882	.	GRCh37	5	139889380	139889380	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	56	143	1	ENST00000360839.2:c.3924T>C	p.Cys1308=	p.C1308=	ENST00000360839	NM_017747.2	1308	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS4224.1	3924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGTGAACT	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000297183	.	21/36	.	.	.	.	.	.	.	.	.	21/36	nonpreferredpair	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,synonymous_variant,p.%3D,ENST00000297183,;ANKHD1,synonymous_variant,p.%3D,ENST00000412116,;ANKHD1,synonymous_variant,p.%3D,ENST00000246149,;ANKHD1,synonymous_variant,p.%3D,ENST00000360839,;ANKHD1,synonymous_variant,p.%3D,ENST00000421134,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000532219,;ANKHD1,upstream_gene_variant,,ENST00000431508,;ANKHD1,downstream_gene_variant,,ENST00000506930,;	4048	144	160	SUCCESS
ANKHD1	54882	.	GRCh37	5	139917173	139917173	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	34	125	0	ENST00000360839.2:c.7227A>T		p.X2409_splice	ENST00000360839	NM_017747.2	2409	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4224.1	7227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCAGGTAC	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	31/36	.	.	.	.	.	.	.	.	.	31/36	nonpreferredpair	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	SRA1,missense_variant,p.Leu72Gln,ENST00000602657,;ANKHD1,synonymous_variant,p.%3D,ENST00000432301,;ANKHD1,synonymous_variant,p.%3D,ENST00000421706,;ANKHD1,synonymous_variant,p.%3D,ENST00000435794,;ANKHD1,synonymous_variant,p.%3D,ENST00000360839,;ANKHD1,synonymous_variant,p.%3D,ENST00000544120,;ANKHD1,synonymous_variant,p.%3D,ENST00000297183,;ANKHD1,synonymous_variant,p.%3D,ENST00000433049,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000437495,;ANKHD1,synonymous_variant,p.%3D,ENST00000431508,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000532219,;ANKHD1-EIF4EBP3,splice_region_variant,,ENST00000474060,;ANKHD1,splice_region_variant,,ENST00000495578,;ANKHD1,downstream_gene_variant,,ENST00000475148,;	7351	125	125	SUCCESS
PCDHA10	56139	.	GRCh37	5	140235699	140235699	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	46	68	0	ENST00000307360.5:c.66C>T	p.Ala22=	p.A22=	ENST00000307360	NM_018901.2	22	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54921.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCTGGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000506939,;PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;	66	68	68	SUCCESS
ZNF354B	117608	.	GRCh37	5	178310382	178310382	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	62	216	0	ENST00000322434.3:c.929G>C	p.Arg310Thr	p.R310T	ENST00000322434	NM_058230.2	310	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS4439.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAAGGTCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF87,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000327143	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000322434	Transcript	.	.	ENSG00000178338	17197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.46)	.	Z354B_HUMAN	ZNF354B	HGNC	E5RH89_HUMAN	.	UPI0000071A24	SNV	ZNF354B,missense_variant,p.Arg310Thr,ENST00000322434,;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522624,;ZNF354B,upstream_gene_variant,,ENST00000522714,;	1155	216	200	SUCCESS
OCLN	100506658	.	GRCh37	5	68805338	68805338	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759259792	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	109	261	0	ENST00000355237.2:c.421A>T	p.Met141Leu	p.M141L	ENST00000355237	NM_002538.3	141	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS4006.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCATGTTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,Pfam_domain:PF01284,PIRSF_domain:PIRSF005993,Superfamily_domains:SSF103473	.	.	ENSP00000347379	.	3/9	.	.	.	.	.	.	.	.	rs759259792	3/9	nonpreferredpair	ENST00000355237	Transcript	1	.	ENSG00000197822	8104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.72)	.	OCLN_HUMAN	OCLN	HGNC	.	.	UPI00000341F0	SNV	OCLN,missense_variant,p.Met141Leu,ENST00000396442,;OCLN,missense_variant,p.Met141Leu,ENST00000355237,;OCLN,missense_variant,p.Met141Leu,ENST00000380766,;OCLN,intron_variant,,ENST00000542132,;OCLN,intron_variant,,ENST00000538151,;GUSBP3,intron_variant,,ENST00000380759,;	857	261	312	SUCCESS
EDIL3	10085	.	GRCh37	5	83680126	83680126	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs776762718	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	31	0	ENST00000296591.5:c.67G>A	p.Gly23Ser	p.G23S	ENST00000296591	NM_005711.4	23	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4062.1	67	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTTTGC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50026	.	.	ENSP00000296591	.	1/11	.	.	.	.	.	.	.	.	rs776762718	1/11	nonpreferredpair	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.01)	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,missense_variant,p.Gly23Ser,ENST00000296591,;EDIL3,missense_variant,p.Gly23Ser,ENST00000380138,;CTD-2269F5.1,upstream_gene_variant,,ENST00000509406,;CTD-2269F5.1,upstream_gene_variant,,ENST00000507060,;CTD-2269F5.1,upstream_gene_variant,,ENST00000502253,;CTD-2269F5.1,upstream_gene_variant,,ENST00000514696,;CTD-2269F5.1,upstream_gene_variant,,ENST00000515688,;	486	31	42	SUCCESS
TFAP2A	7020	.	GRCh37	6	10398750	10398750	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	136	0	ENST00000482890.1:c.1214C>A	p.Ala405Asp	p.A405D	ENST00000482890		405	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS4510.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCCTCG	NONE	.	.	hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF8,Pfam_domain:PF03299	.	.	ENSP00000368924	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000379604	Transcript	.	.	ENSG00000137203	11742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	AP2A_HUMAN	TFAP2A	HGNC	.	.	UPI0000125BC5	SNV	TFAP2A,missense_variant,p.Ala399Asp,ENST00000379608,;TFAP2A,missense_variant,p.Ala407Asp,ENST00000379613,;TFAP2A,missense_variant,p.Ala401Asp,ENST00000319516,;TFAP2A,missense_variant,p.Ala405Asp,ENST00000482890,;TFAP2A,missense_variant,p.Ala405Asp,ENST00000379604,;TFAP2A,intron_variant,,ENST00000461628,;TFAP2A,downstream_gene_variant,,ENST00000498450,;TFAP2A,downstream_gene_variant,,ENST00000475264,;TFAP2A,downstream_gene_variant,,ENST00000466073,;TFAP2A,downstream_gene_variant,,ENST00000497266,;TFAP2A,3_prime_UTR_variant,,ENST00000488193,;TFAP2A,3_prime_UTR_variant,,ENST00000489805,;TFAP2A,downstream_gene_variant,,ENST00000478375,;	1466	136	140	SUCCESS
FAM184A	79632	.	GRCh37	6	119345814	119345814	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	72	230	0	ENST00000338891.7:c.324T>G	p.Ile108Met	p.I108M	ENST00000338891	NM_024581.4	108	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS43499.1	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGAATCTT	NONE	.	.	hmmpanther:PTHR18870,hmmpanther:PTHR18870:SF7	.	.	ENSP00000342604	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.09)	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,missense_variant,p.Ile108Met,ENST00000338891,;FAM184A,missense_variant,p.Ile108Met,ENST00000521531,;FAM184A,5_prime_UTR_variant,,ENST00000368475,;FAM184A,5_prime_UTR_variant,,ENST00000352896,;FAM184A,5_prime_UTR_variant,,ENST00000522284,;FAM184A,upstream_gene_variant,,ENST00000448815,;RP11-351A11.1,intron_variant,,ENST00000518570,;	768	230	224	SUCCESS
SMPDL3A	10924	.	GRCh37	6	123110566	123110566	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	12	0	ENST00000368440.4:c.75G>T	p.Val25=	p.V25=	ENST00000368440	NM_006714.3	25	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5128.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTGGCGCC	NONE	.	.	hmmpanther:PTHR10340:SF24,hmmpanther:PTHR10340,PIRSF_domain:PIRSF036767	.	.	ENSP00000357425	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000368440	Transcript	.	.	ENSG00000172594	17389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASM3A_HUMAN	SMPDL3A	HGNC	B7Z729_HUMAN	.	UPI00000701D1	SNV	SMPDL3A,synonymous_variant,p.%3D,ENST00000368440,;SMPDL3A,5_prime_UTR_variant,,ENST00000539041,;SMPDL3A,non_coding_transcript_exon_variant,,ENST00000487215,;	252	12	18	SUCCESS
THEMIS	387357	.	GRCh37	6	128222138	128222138	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	71	0	ENST00000368248.2:c.-61G>T		p.*21*	ENST00000368248	NM_001010923.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55056.1	.	MUTECT|MUSE	.	GGTGACACTTG	NONE	.	.	.	.	.	ENSP00000439594	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,5_prime_UTR_variant,,ENST00000368250,;THEMIS,5_prime_UTR_variant,,ENST00000368248,;THEMIS,5_prime_UTR_variant,,ENST00000543064,;THEMIS,intron_variant,,ENST00000537166,;THEMIS,upstream_gene_variant,,ENST00000434358,;	89	71	73	SUCCESS
ADGB	79747	.	GRCh37	6	147109747	147109747	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs370591540	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	62	0	ENST00000397944.3:c.4537+1G>A		p.X1513_splice	ENST00000397944	NM_024694.3	1513		0	A:0	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCGTAAGT	NONE	byFrequency|byCluster	.	.	.	A:0.0003	ENSP00000381036	.	.	.	.	.	.	.	.	.	.	rs370591540	.	nonpreferredpair	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	HIGH	33/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,splice_donor_variant,,ENST00000367493,;ADGB,splice_donor_variant,,ENST00000326916,;ADGB,splice_donor_variant,,ENST00000367490,;ADGB,splice_donor_variant,,ENST00000397944,;ADGB,splice_donor_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000470716,;ADGB,downstream_gene_variant,,ENST00000523560,;ADGB,splice_donor_variant,,ENST00000493950,;ADGB,splice_donor_variant,,ENST00000480328,;	.	62	52	SUCCESS
MAP3K4	4216	.	GRCh37	6	161470524	161470524	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	62	155	0	ENST00000392142.4:c.1220T>G	p.Leu407Ter	p.L407*	ENST00000392142	NM_005922.2	407	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS34565.1	1220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATTAAGGA	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	.	.	ENSP00000375986	.	3/27	.	.	.	.	.	.	.	.	.	3/27	nonpreferredpair	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,stop_gained,p.Leu407Ter,ENST00000366919,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000348824,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000366920,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000392142,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000544041,;MAP3K4,stop_gained,p.Leu407Ter,ENST00000490904,;MAP3K4,intron_variant,,ENST00000542952,;	1368	155	167	SUCCESS
EHMT2	10919	.	GRCh37	6	31848859	31848859	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	52	0	ENST00000375537.4:c.3208G>A	p.Glu1070Lys	p.E1070K	ENST00000375537	NM_006709.3	1070	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4725.1	3208	MUTECT|MUSE	.	CAGCTCCCCGA	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306,Gene3D:2.170.270.10,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000364687	.	26/28	.	.	.	.	.	.	.	.	.	26/28	nonpreferredpair	ENST00000375537	Transcript	.	.	ENSG00000204371	14129	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EHMT2_HUMAN	EHMT2	HGNC	.	.	UPI000013D085	SNV	EHMT2,missense_variant,p.Glu1093Lys,ENST00000375528,;EHMT2,missense_variant,p.Glu1127Lys,ENST00000395728,;EHMT2,missense_variant,p.Glu1036Lys,ENST00000375530,;EHMT2,missense_variant,p.Glu1070Lys,ENST00000375537,;EHMT2,downstream_gene_variant,,ENST00000436026,;SLC44A4,upstream_gene_variant,,ENST00000229729,;SLC44A4,upstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000544672,;SLC44A4,upstream_gene_variant,,ENST00000375562,;EHMT2-AS1,upstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000478491,;SLC44A4,upstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000462671,;EHMT2,non_coding_transcript_exon_variant,,ENST00000461880,;EHMT2,non_coding_transcript_exon_variant,,ENST00000494816,;EHMT2,downstream_gene_variant,,ENST00000477678,;	3215	52	48	SUCCESS
ZBTB9	221504	.	GRCh37	6	33424110	33424110	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	41	0	ENST00000395064.2:c.1233T>A	p.Phe411Leu	p.F411L	ENST00000395064	NM_152735.3	411	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS4780.1	1233	MUSE|VARSCANS	.	CCTTTTGGCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24414:SF24,hmmpanther:PTHR24414,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	SNV	ZBTB9,missense_variant,p.Phe411Leu,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000428982,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	1501	41	43	SUCCESS
DUSP22	56940	.	GRCh37	6	349068	349068	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	12	0	ENST00000344450.5:c.508+227G>C		p.*170*	ENST00000344450	NM_020185.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4468.1	.	RADIA|MUTECT|VARSCANS	.	GGTGGGGCGAG	NONE	.	.	.	.	.	ENSP00000345281	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000344450	Transcript	.	.	ENSG00000112679	16077	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUS22_HUMAN	DUSP22	HGNC	S4R3A4_HUMAN	.	UPI0000036A3C	SNV	DUSP22,3_prime_UTR_variant,,ENST00000419235,;DUSP22,3_prime_UTR_variant,,ENST00000605315,;DUSP22,3_prime_UTR_variant,,ENST00000604971,;DUSP22,intron_variant,,ENST00000344450,;DUSP22,downstream_gene_variant,,ENST00000605863,;DUSP22,downstream_gene_variant,,ENST00000603453,;DUSP22,downstream_gene_variant,,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000605035,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,intron_variant,,ENST00000604988,;DUSP22,downstream_gene_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,downstream_gene_variant,,ENST00000604914,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,intron_variant,,ENST00000603726,;	.	12	19	SUCCESS
EYS	346007	.	GRCh37	6	66044982	66044982	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	51	149	0	ENST00000370616.2:c.1657C>A	p.Leu553Ile	p.L553I	ENST00000370616		553	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS47445.1	1657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAGATACC	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,SMART_domains:SM00181	.	.	ENSP00000424243	.	11/43	.	.	.	.	.	.	.	.	.	11/43	nonpreferredpair	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Leu553Ile,ENST00000342421,;EYS,missense_variant,p.Leu553Ile,ENST00000393380,;EYS,missense_variant,p.Leu553Ile,ENST00000370616,;EYS,missense_variant,p.Leu553Ile,ENST00000370618,;EYS,missense_variant,p.Leu553Ile,ENST00000370621,;EYS,missense_variant,p.Leu553Ile,ENST00000503581,;	2195	150	138	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138764382	138764382	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	108	162	1	ENST00000242351.5:c.1305G>T	p.Val435=	p.V435=	ENST00000242351	NM_020119.3	435	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5851.1	1305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCACTCC	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	4/13	.	.	.	.	.	.	.	.	.	4/13	nonpreferredpair	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,synonymous_variant,p.%3D,ENST00000471652,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000464606,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000242351,;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;	1622	163	233	SUCCESS
EPHA1	2041	.	GRCh37	7	143095957	143095957	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370810516	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	31	0	ENST00000275815.3:c.1073C>A	p.Thr358Lys	p.T358K	ENST00000275815	NM_005232.4	358	aCg/aAg	0	A:0	.	.	.	.	T	T/K	protein_coding	YES	CCDS5884.1	1073	RADIA|MUTECT|MUSE	.	CCCCCGTATCT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853	.	A:0.0001	ENSP00000275815	.	6/18	.	.	.	.	.	.	.	.	rs370810516	6/18	nonpreferredpair	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.11)	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,missense_variant,p.Thr358Lys,ENST00000275815,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;EPHA1,upstream_gene_variant,,ENST00000494989,;	1160	31	46	SUCCESS
EPHA1	2041	.	GRCh37	7	143095959	143095959	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	21	30	0	ENST00000275815.3:c.1071T>A	p.Asp357Glu	p.D357E	ENST00000275815	NM_005232.4	357	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5884.1	1071	RADIA|MUTECT|MUSE	.	CCCGTATCTGC	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853	.	.	ENSP00000275815	.	6/18	.	.	.	.	.	.	.	.	.	6/18	nonpreferredpair	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	tolerated(0.06)	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,missense_variant,p.Asp357Glu,ENST00000275815,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;EPHA1,upstream_gene_variant,,ENST00000494989,;	1158	30	45	SUCCESS
DFNA5	0	.	GRCh37	7	24758722	24758722	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761265129	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	59	0	ENST00000342947.3:c.520A>G	p.Met174Val	p.M174V	ENST00000342947	NM_004403.2	174	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS5389.1	520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCATGTGCT	NONE	.	.	hmmpanther:PTHR15207:SF1,hmmpanther:PTHR15207,Pfam_domain:PF04598	.	.	ENSP00000339587	.	4/10	.	.	.	.	.	.	.	.	rs761265129	4/10	nonpreferredpair	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,missense_variant,p.Met174Val,ENST00000409775,;DFNA5,missense_variant,p.Met174Val,ENST00000342947,;DFNA5,missense_variant,p.Met10Val,ENST00000414428,;DFNA5,missense_variant,p.Met10Val,ENST00000545231,;DFNA5,missense_variant,p.Met10Val,ENST00000419307,;DFNA5,missense_variant,p.Met10Val,ENST00000409970,;DFNA5,upstream_gene_variant,,ENST00000415480,;DFNA5,upstream_gene_variant,,ENST00000446822,;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,;DFNA5,missense_variant,p.Met97Val,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;	946	59	26	SUCCESS
STAG3L3	442578	.	GRCh37	7	72469249	72469249	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	21	0	ENST00000423834.2:n.1026G>A		p.*342*	ENST00000423834				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	CTGGGCACCTG	NONE	.	4253	.	.	.	ENSP00000471729	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000594241	Transcript	.	.	ENSG00000267985	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC005488.1	Clone_based_ensembl_gene	M0R184_HUMAN	.	UPI00015E04AA	SNV	AC005488.1,downstream_gene_variant,,ENST00000594241,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000569650,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000448173,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000428423,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000423834,;STAG3L3,intron_variant,,ENST00000436857,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000608210,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000308103,;STAG3L3,non_coding_transcript_exon_variant,,ENST00000426587,;	.	21	18	SUCCESS
RP1	6101	.	GRCh37	8	55539906	55539906	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	57	181	0	ENST00000220676.1:c.3464A>G	p.Asn1155Ser	p.N1155S	ENST00000220676	NM_006269.1	1155	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS6160.1	3464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAACAAAT	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Asn1155Ser,ENST00000220676,;	3612	181	238	SUCCESS
MATN2	4147	.	GRCh37	8	99045370	99045370	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	48	123	0	ENST00000254898.5:c.2682T>C	p.Ser894=	p.S894=	ENST00000254898	NM_002380.3	894	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS55264.1	2682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCTACACA	NONE	.	.	hmmpanther:PTHR22992:SF17,hmmpanther:PTHR22992	.	.	ENSP00000430487	.	16/18	.	.	.	.	.	.	.	.	.	16/18	nonpreferredpair	ENST00000520016	Transcript	.	.	ENSG00000132561	6908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATN2_HUMAN	MATN2	HGNC	E5RJM4_HUMAN	.	UPI000021037B	SNV	MATN2,synonymous_variant,p.%3D,ENST00000518154,;MATN2,synonymous_variant,p.%3D,ENST00000521689,;MATN2,synonymous_variant,p.%3D,ENST00000254898,;MATN2,synonymous_variant,p.%3D,ENST00000520016,;MATN2,synonymous_variant,p.%3D,ENST00000522135,;MATN2,synonymous_variant,p.%3D,ENST00000524308,;MATN2,synonymous_variant,p.%3D,ENST00000519582,;MATN2,synonymous_variant,p.%3D,ENST00000522025,;RPL30,intron_variant,,ENST00000518164,;MATN2,3_prime_UTR_variant,,ENST00000521952,;MATN2,non_coding_transcript_exon_variant,,ENST00000523561,;	2806	123	180	SUCCESS
HSPA5	3309	.	GRCh37	9	128001549	128001549	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	46	116	0	ENST00000324460.6:c.667T>G	p.Phe223Val	p.F223V	ENST00000324460	NM_005347.4	223	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS6863.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAACACCA	NONE	.	.	Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.30.420.40,PROSITE_patterns:PS00329,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF157	.	.	ENSP00000324173	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000324460	Transcript	.	.	ENSG00000044574	5238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	GRP78_HUMAN	HSPA5	HGNC	.	.	UPI0000001061	SNV	HSPA5,missense_variant,p.Phe223Val,ENST00000324460,;RP11-65N13.8,upstream_gene_variant,,ENST00000468244,;	871	116	86	SUCCESS
EXOSC3	51010	.	GRCh37	9	37784995	37784995	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	17	39	0	ENST00000327304.5:c.47G>A	p.Arg16Lys	p.R16K	ENST00000327304	NM_016042.3	16	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS35016.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCCTGCTG	NONE	.	.	hmmpanther:PTHR21321,hmmpanther:PTHR21321:SF3	.	.	ENSP00000323046	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000327304	Transcript	.	.	ENSG00000107371	17944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.49)	.	EXOS3_HUMAN	EXOSC3	HGNC	.	.	UPI0000134936	SNV	EXOSC3,missense_variant,p.Arg16Lys,ENST00000327304,;EXOSC3,missense_variant,p.Arg16Lys,ENST00000396521,;EXOSC3,intron_variant,,ENST00000482614,;EXOSC3,intron_variant,,ENST00000489414,;EXOSC3,upstream_gene_variant,,ENST00000490516,;EXOSC3,missense_variant,p.Arg16Lys,ENST00000465229,;RP11-613M10.9,intron_variant,,ENST00000540557,;EXOSC3,upstream_gene_variant,,ENST00000496910,;EXOSC3,upstream_gene_variant,,ENST00000465860,;	60	39	40	SUCCESS
C9orf64	84267	.	GRCh37	9	86571114	86571114	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1255636282	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	33	0	ENST00000376344.3:c.302C>T	p.Ser101Phe	p.S101F	ENST00000376344	NM_032307.3	101	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS6666.2	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGACCAG	NONE	.	.	hmmpanther:PTHR21314:SF0,hmmpanther:PTHR21314,Pfam_domain:PF10343	.	.	ENSP00000365522	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000376344	Transcript	.	.	ENSG00000165118	28144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	CI064_HUMAN	C9orf64	HGNC	Q5T6V7_HUMAN	.	UPI000013E45E	SNV	C9orf64,missense_variant,p.Ser101Phe,ENST00000376344,;C9orf64,5_prime_UTR_variant,,ENST00000314700,;C9orf64,5_prime_UTR_variant,,ENST00000376340,;	519	33	24	SUCCESS
PHF2	5253	.	GRCh37	9	96415567	96415567	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	41	0	ENST00000359246.4:c.709T>G	p.Cys237Gly	p.C237G	ENST00000359246	NM_005392.3	237	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS35069.1	709	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACTGCCTA	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Gene3D:1vrbA01,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000352185	.	6/22	.	.	.	.	.	.	.	.	.	6/22	nonpreferredpair	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,missense_variant,p.Cys237Gly,ENST00000359246,;PHF2,intron_variant,,ENST00000375376,;	1076	41	22	SUCCESS
NXF2B	728343	.	GRCh37	X	101615541	101615541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	767	67	826	0	ENST00000457521.2:c.1862C>T	p.Ala621Val	p.A621V	ENST00000457521		621	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43979.1	1862	MUTECT|MUSE	.	TGAAGGCCTCC	NONE	.	.	PROSITE_profiles:PS51281,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF15,Gene3D:1.10.8.10,Pfam_domain:PF03943,SMART_domains:SM00804,Superfamily_domains:SSF46934	.	.	ENSP00000396447	.	34/34	.	.	.	.	.	.	.	.	.	34/34	nonpreferredpair	ENST00000457521	Transcript	.	.	ENSG00000185945	23984	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.708)	.	deleterious(0.04)	.	NXF2_HUMAN	NXF2B	HGNC	D3DX98_HUMAN	.	UPI0000130AB1	SNV	NXF2B,missense_variant,p.Ala621Val,ENST00000372749,;NXF2B,missense_variant,p.Ala621Val,ENST00000457521,;NXF2B,missense_variant,p.Ala621Val,ENST00000372750,;NXF2B,missense_variant,p.Ala621Val,ENST00000412230,;NXF2B,3_prime_UTR_variant,,ENST00000372752,;NXF2B,downstream_gene_variant,,ENST00000489531,;	3734	826	834	SUCCESS
FAM127C	0	.	GRCh37	X	134156305	134156305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	52	152	0	ENST00000391440.1:c.185C>T	p.Ala62Val	p.A62V	ENST00000391440	NM_001078173.1	62	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43996.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGCGTCG	NONE	.	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF6	.	.	ENSP00000375268	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000391440	Transcript	.	.	ENSG00000212747	33156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.06)	.	F127C_HUMAN	FAM127C	HGNC	.	.	UPI00001613F2	SNV	FAM127C,missense_variant,p.Ala62Val,ENST00000391440,;	255	152	153	SUCCESS
L1CAM	3897	.	GRCh37	X	153136308	153136308	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs202000092	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	69	192	0	ENST00000370060.1:c.631G>T	p.Ala211Ser	p.A211S	ENST00000370060	NM_001278116.1	211	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14733.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGTGGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359077	.	7/29	.	.	.	.	.	.	.	.	rs202000092	7/29	nonpreferredpair	ENST00000370060	Transcript	.	.	ENSG00000198910	6470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	L1CAM_HUMAN	L1CAM	HGNC	Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN	.	UPI0000126E89	SNV	L1CAM,missense_variant,p.Ala213Ser,ENST00000538883,;L1CAM,missense_variant,p.Ala206Ser,ENST00000370055,;L1CAM,missense_variant,p.Ala206Ser,ENST00000361981,;L1CAM,missense_variant,p.Ala213Ser,ENST00000543994,;L1CAM,missense_variant,p.Ala211Ser,ENST00000370057,;L1CAM,missense_variant,p.Ala211Ser,ENST00000370060,;L1CAM,missense_variant,p.Ala211Ser,ENST00000361699,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000484652,;L1CAM,downstream_gene_variant,,ENST00000460553,;	821	192	210	SUCCESS
ZFX	7543	.	GRCh37	X	24229378	24229378	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	108	305	1	ENST00000304543.5:c.2303C>A	p.Ser768Tyr	p.S768Y	ENST00000304543		768	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS14211.1	2303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCCATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF208,hmmpanther:PTHR24387,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000368475	.	11/11	.	.	.	.	.	.	.	.	COSM3913800	11/11	nonpreferredpair	ENST00000379177	Transcript	.	.	ENSG00000005889	12869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	ZFX_HUMAN	ZFX	HGNC	Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN	.	UPI000013C504	SNV	ZFX,missense_variant,p.Ser807Tyr,ENST00000540034,;ZFX,missense_variant,p.Ser768Tyr,ENST00000379188,;ZFX,missense_variant,p.Ser768Tyr,ENST00000379177,;ZFX,missense_variant,p.Ser539Tyr,ENST00000539115,;ZFX,missense_variant,p.Ser768Tyr,ENST00000304543,;ZFX,missense_variant,p.Ser718Tyr,ENST00000338565,;ZFX,downstream_gene_variant,,ENST00000459724,;	2730	306	301	SUCCESS
MXRA5	25878	.	GRCh37	X	3227926	3227926	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1366305934	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	72	252	0	ENST00000217939.6:c.8318C>T	p.Ser2773Leu	p.S2773L	ENST00000217939	NM_015419.3	2773	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS14124.1	8318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGACTTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000217939	.	7/7	.	.	.	.	.	.	.	.	COSM3560940,COSM3560941	7/7	nonpreferredpair	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.031)	.	tolerated(0.05)	1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Ser2773Leu,ENST00000217939,;	8473	252	232	SUCCESS
FAM47A	158724	.	GRCh37	X	34149524	34149524	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	42	156	0	ENST00000346193.3:c.872C>G	p.Thr291Arg	p.T291R	ENST00000346193	NM_203408.3	291	aCa/aGa	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS43926.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGTGGGT	NONE	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	tolerated(0.37)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Thr291Arg,ENST00000346193,;	924	156	133	SUCCESS
MAOB	4129	.	GRCh37	X	43655030	43655030	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	43	115	0	ENST00000378069.4:c.724A>T	p.Arg242Ter	p.R242*	ENST00000378069	NM_000898.4	242	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS14261.1	724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTTGTCT	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF51905	.	.	ENSP00000367309	.	7/15	.	.	.	.	.	.	.	.	.	7/15	nonpreferredpair	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,stop_gained,p.Arg226Ter,ENST00000538942,;MAOB,stop_gained,p.Arg226Ter,ENST00000536181,;MAOB,stop_gained,p.Arg242Ter,ENST00000378069,;MAOB,downstream_gene_variant,,ENST00000487544,;	872	115	112	SUCCESS
MTMR8	55613	.	GRCh37	X	63548663	63548663	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	33	0	ENST00000374852.3:c.1470C>A	p.Pro490=	p.P490=	ENST00000374852	NM_017677.3	490	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14379.1	1470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGGGCAC	NONE	.	.	Superfamily_domains:SSF52799,hmmpanther:PTHR10807:SF36,hmmpanther:PTHR10807,PROSITE_profiles:PS51339	.	.	ENSP00000363985	.	12/14	.	.	.	.	.	.	.	.	.	12/14	nonpreferredpair	ENST00000374852	Transcript	.	.	ENSG00000102043	16825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMR8_HUMAN	MTMR8	HGNC	.	.	UPI000006DFF7	SNV	MTMR8,synonymous_variant,p.%3D,ENST00000374852,;MTMR8,intron_variant,,ENST00000453546,;MTMR8,downstream_gene_variant,,ENST00000462447,;MTMR8,downstream_gene_variant,,ENST00000478487,;	1538	33	33	SUCCESS
PIN4	5303	.	GRCh37	X	71417258	71417258	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1423088655	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	91	311	0	ENST00000373669.2:c.353C>A	p.Pro118Gln	p.P118Q	ENST00000373669	NM_006223.3	118	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS14417.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCATTTC	NONE	.	.	PROSITE_profiles:PS50198,hmmpanther:PTHR10657,Gene3D:3.10.50.40,Pfam_domain:PF13616,Superfamily_domains:SSF54534	.	.	ENSP00000362773	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000373669	Transcript	.	.	ENSG00000102309	8992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	tolerated(0.05)	.	PIN4_HUMAN	PIN4	HGNC	A8E0G8_HUMAN	.	UPI00002263A9	SNV	PIN4,missense_variant,p.Pro118Gln,ENST00000373669,;PIN4,3_prime_UTR_variant,,ENST00000218432,;PIN4,intron_variant,,ENST00000423432,;PIN4,intron_variant,,ENST00000496835,;PIN4,downstream_gene_variant,,ENST00000446576,;RN7SL388P,upstream_gene_variant,,ENST00000498736,;PIN4,intron_variant,,ENST00000439980,;PIN4,downstream_gene_variant,,ENST00000373662,;	385	311	298	SUCCESS
FANK1	92565	.	GRCh37	10	127697046	127697046	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	84	0	ENST00000368693.1:c.776G>T	p.Arg259Met	p.R259M	ENST00000368693		259	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS31309.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGGGTGG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24183,hmmpanther:PTHR24183:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000357682	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000368693	Transcript	.	.	ENSG00000203780	23527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0.03)	.	FANK1_HUMAN	FANK1	HGNC	C9JD80_HUMAN,A6NH44_HUMAN	.	UPI000046FFD6	SNV	FANK1,missense_variant,p.Arg253Met,ENST00000368695,;FANK1,missense_variant,p.Arg154Met,ENST00000456942,;FANK1,missense_variant,p.Arg259Met,ENST00000368693,;FANK1,missense_variant,p.Arg237Met,ENST00000368691,;ADAM12,downstream_gene_variant,,ENST00000368679,;FANK1,non_coding_transcript_exon_variant,,ENST00000492670,;FANK1,non_coding_transcript_exon_variant,,ENST00000477963,;FANK1,non_coding_transcript_exon_variant,,ENST00000464130,;	880	84	100	SUCCESS
C11orf57	0	.	GRCh37	11	111953465	111953465	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	45	130	1	ENST00000393047.3:c.651A>C	p.Lys217Asn	p.K217N	ENST00000393047		217	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS8356.2	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAACCTGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000376767	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393047	Transcript	.	.	ENSG00000150776	25569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	tolerated_low_confidence(0.25)	.	CK057_HUMAN	C11orf57	HGNC	E9PQL5_HUMAN,E9PKA8_HUMAN	.	UPI00001FA363	SNV	C11orf57,missense_variant,p.Lys188Asn,ENST00000525785,;C11orf57,missense_variant,p.Lys216Asn,ENST00000420986,;C11orf57,missense_variant,p.Lys217Asn,ENST00000393047,;C11orf57,missense_variant,p.Lys216Asn,ENST00000280352,;C11orf57,missense_variant,p.Lys188Asn,ENST00000532163,;SDHD,upstream_gene_variant,,ENST00000528182,;C11orf57,downstream_gene_variant,,ENST00000531378,;C11orf57,downstream_gene_variant,,ENST00000526879,;C11orf57,downstream_gene_variant,,ENST00000530104,;TIMM8B,downstream_gene_variant,,ENST00000504148,;SDHD,upstream_gene_variant,,ENST00000526592,;SDHD,upstream_gene_variant,,ENST00000375549,;SDHD,upstream_gene_variant,,ENST00000525291,;SDHD,upstream_gene_variant,,ENST00000528021,;TIMM8B,downstream_gene_variant,,ENST00000541231,;SDHD,upstream_gene_variant,,ENST00000528048,;TIMM8B,downstream_gene_variant,,ENST00000507614,;C11orf57,3_prime_UTR_variant,,ENST00000524989,;SDHD,upstream_gene_variant,,ENST00000525987,;SDHD,upstream_gene_variant,,ENST00000532699,;TIMM8B,downstream_gene_variant,,ENST00000509359,;SDHD,upstream_gene_variant,,ENST00000531744,;SDHD,upstream_gene_variant,,ENST00000530923,;	1260	131	139	SUCCESS
OR10G8	219869	.	GRCh37	11	123900948	123900948	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	89	222	0	ENST00000431524.1:c.619T>C	p.Ser207Pro	p.S207P	ENST00000431524	NM_001004464.1	207	Tcg/Ccg	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31704.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCGGGC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262	.	.	ENSP00000389072	.	1/1	.	.	.	.	.	.	.	.	COSM3986006	1/1	PASS	ENST00000431524	Transcript	.	.	ENSG00000234560	14845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.824)	.	deleterious(0.02)	1	O10G8_HUMAN	OR10G8	HGNC	.	.	UPI0000040A8F	SNV	OR10G8,missense_variant,p.Ser207Pro,ENST00000431524,;	652	222	205	SUCCESS
ROBO4	54538	.	GRCh37	11	124766856	124766856	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	56	0	ENST00000306534.3:c.372C>A	p.Val124=	p.V124=	ENST00000306534	NM_019055.5	124	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8455.1	372	MUTECT|MUSE	.	CTGCTGACTGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF1,hmmpanther:PTHR10489,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000304945	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000306534	Transcript	.	.	ENSG00000154133	17985	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROBO4_HUMAN	ROBO4	HGNC	B4DYV8_HUMAN	.	UPI000004A023	SNV	ROBO4,synonymous_variant,p.%3D,ENST00000306534,;ROBO4,5_prime_UTR_variant,,ENST00000533054,;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,non_coding_transcript_exon_variant,,ENST00000527279,;ROBO4,non_coding_transcript_exon_variant,,ENST00000529941,;ROBO4,non_coding_transcript_exon_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000533337,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000532216,;	858	56	53	SUCCESS
FOXRED1	55572	.	GRCh37	11	126145999	126145999	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	88	0	ENST00000263578.5:c.856A>G	p.Ile286Val	p.I286V	ENST00000263578	NM_017547.3	286	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8471.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCATTGTG	NONE	.	.	Superfamily_domains:SSF51905,Pfam_domain:PF01266,Gene3D:3.50.50.60,hmmpanther:PTHR13847:SF161,hmmpanther:PTHR13847	.	.	ENSP00000263578	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000263578	Transcript	.	.	ENSG00000110074	26927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.27)	.	FXRD1_HUMAN	FOXRED1	HGNC	B4DXM1_HUMAN,B4DQI0_HUMAN	.	UPI0000037C04	SNV	FOXRED1,missense_variant,p.Ile272Val,ENST00000532125,;FOXRED1,missense_variant,p.Ile116Val,ENST00000442061,;FOXRED1,missense_variant,p.Ile286Val,ENST00000263578,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000533839,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534011,;FOXRED1,downstream_gene_variant,,ENST00000526366,;FOXRED1,3_prime_UTR_variant,,ENST00000527004,;FOXRED1,3_prime_UTR_variant,,ENST00000525770,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000533395,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000525083,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534315,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000530642,;FOXRED1,downstream_gene_variant,,ENST00000526525,;FOXRED1,downstream_gene_variant,,ENST00000527875,;FOXRED1,downstream_gene_variant,,ENST00000532101,;FOXRED1,downstream_gene_variant,,ENST00000529802,;FOXRED1,upstream_gene_variant,,ENST00000532590,;FOXRED1,downstream_gene_variant,,ENST00000531257,;FOXRED1,downstream_gene_variant,,ENST00000524751,;RPL35AP26,downstream_gene_variant,,ENST00000476981,;	930	88	77	SUCCESS
LGR4	55366	.	GRCh37	11	27389536	27389536	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	77	0	ENST00000379214.4:c.2734G>T	p.Glu912Ter	p.E912*	ENST00000379214	NM_018490.2	912	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS31449.1	2734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCTTCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24367:SF246,hmmpanther:PTHR24367	.	.	ENSP00000368516	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000379214	Transcript	.	.	ENSG00000205213	13299	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR4_HUMAN	LGR4	HGNC	Q59ER8_HUMAN	.	UPI00000373E7	SNV	LGR4,stop_gained,p.Glu888Ter,ENST00000389858,;LGR4,stop_gained,p.Glu912Ter,ENST00000379214,;CCDC34,upstream_gene_variant,,ENST00000328697,;CCDC34,upstream_gene_variant,,ENST00000317945,;	3178	77	53	SUCCESS
IFITM5	387733	.	GRCh37	11	299408	299408	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765481203	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	32	0	ENST00000382614.2:c.83C>T	p.Ala28Val	p.A28V	ENST00000382614	NM_001025295.2	28	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31323.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCCCCC	NONE	byFrequency	.	Pfam_domain:PF04505,hmmpanther:PTHR13999:SF10,hmmpanther:PTHR13999	.	.	ENSP00000372059	.	1/2	.	.	.	.	.	.	.	.	rs765481203	1/2	PASS	ENST00000382614	Transcript	.	.	ENSG00000206013	16644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	deleterious(0.04)	.	IFM5_HUMAN	IFITM5	HGNC	.	.	UPI0000161610	SNV	IFITM5,missense_variant,p.Ala28Val,ENST00000382614,;ATHL1,downstream_gene_variant,,ENST00000397660,;ATHL1,downstream_gene_variant,,ENST00000409655,;ATHL1,downstream_gene_variant,,ENST00000409479,;ATHL1,downstream_gene_variant,,ENST00000409548,;ATHL1,downstream_gene_variant,,ENST00000476372,;ATHL1,downstream_gene_variant,,ENST00000474221,;RP11-326C3.4,downstream_gene_variant,,ENST00000533113,;	119	32	56	SUCCESS
DAGLA	747	.	GRCh37	11	61502408	61502408	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	51	0	ENST00000257215.5:c.1062C>A	p.Ile354=	p.I354=	ENST00000257215	NM_006133.2	354	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31578.1	1062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCCGGCG	NONE	.	.	hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87,Superfamily_domains:SSF53474	.	.	ENSP00000257215	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000257215	Transcript	.	.	ENSG00000134780	1165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGLA_HUMAN	DAGLA	HGNC	.	.	UPI00001678B3	SNV	DAGLA,synonymous_variant,p.%3D,ENST00000257215,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	1178	51	32	SUCCESS
ANO4	121601	.	GRCh37	12	101520844	101520844	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	84	0	ENST00000392977.3:c.2864C>A	p.Pro955Gln	p.P955Q	ENST00000392977	NM_001286615.1	955	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS31884.1	2759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCGTGAC	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	26/27	.	.	.	.	.	.	.	.	COSM169461	26/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	1	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Pro475Gln,ENST00000550015,;ANO4,missense_variant,p.Pro475Gln,ENST00000299222,;ANO4,missense_variant,p.Pro955Gln,ENST00000392977,;ANO4,missense_variant,p.Pro920Gln,ENST00000392979,;	3120	84	71	SUCCESS
KSR2	283455	.	GRCh37	12	118298110	118298110	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	23	0	ENST00000339824.5:c.307A>T	p.Lys103Ter	p.K103*	ENST00000339824		103	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	.	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGCGCA	NONE	.	.	Pfam_domain:PF13543	.	.	ENSP00000339952	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,stop_gained,p.Lys74Ter,ENST00000425217,;KSR2,stop_gained,p.Lys103Ter,ENST00000339824,;	1035	23	20	SUCCESS
EFCAB4B	0	.	GRCh37	12	3806151	3806151	+	synonymous_variant	Silent	SNP	G	G	A	rs148897271	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	47	0	ENST00000252322.1:c.15C>T	p.Asp5=	p.D5=	ENST00000252322	NM_032680.3	5	gaC/gaT	0	.	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS44803.1	15	MUTECT|MUSE	.	CTCCCGTCAGG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000409382	A:0	4/20	.	.	.	.	.	.	.	.	rs148897271	4/20	PASS	ENST00000440314	Transcript	.	A:0.0008	ENSG00000130038	28657	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0041	.	.	EFC4B_HUMAN	EFCAB4B	HGNC	.	.	UPI00017A8807	SNV	EFCAB4B,synonymous_variant,p.%3D,ENST00000444507,;EFCAB4B,synonymous_variant,p.%3D,ENST00000252322,;EFCAB4B,synonymous_variant,p.%3D,ENST00000440314,;	489	47	14	SUCCESS
ADCY6	112	.	GRCh37	12	49176704	49176704	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	37	0	ENST00000307885.4:c.514G>T	p.Ala172Ser	p.A172S	ENST00000307885	NM_015270.3	172	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8767.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCGGCGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263	.	.	ENSP00000311405	.	1/21	.	.	.	.	.	.	.	.	COSM1299410	1/21	PASS	ENST00000307885	Transcript	.	.	ENSG00000174233	237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated(0.51)	1	ADCY6_HUMAN	ADCY6	HGNC	Q9NR74_HUMAN,Q6LCE1_HUMAN	.	UPI000003EC29	SNV	ADCY6,missense_variant,p.Ala172Ser,ENST00000357869,;ADCY6,missense_variant,p.Ala172Ser,ENST00000307885,;ADCY6,missense_variant,p.Ala172Ser,ENST00000550422,;ADCY6,upstream_gene_variant,,ENST00000548820,;ADCY6,upstream_gene_variant,,ENST00000551435,;	1209	37	46	SUCCESS
HNRNPA1	3178	.	GRCh37	12	54676893	54676893	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	69	0	ENST00000340913.6:c.782C>G	p.Ser261Cys	p.S261C	ENST00000340913	NM_002136.2	261	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS44909.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF309,hmmpanther:PTHR24012	.	.	ENSP00000341826	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000340913	Transcript	.	.	ENSG00000135486	5031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.17)	.	ROA1_HUMAN	HNRNPA1	HGNC	F8VYN5_HUMAN	.	UPI0000161BF2	SNV	HNRNPA1,missense_variant,p.Ser261Cys,ENST00000340913,;HNRNPA1,intron_variant,,ENST00000550482,;HNRNPA1,intron_variant,,ENST00000547708,;HNRNPA1,intron_variant,,ENST00000546500,;HNRNPA1,intron_variant,,ENST00000330752,;HNRNPA1,intron_variant,,ENST00000547276,;CBX5,upstream_gene_variant,,ENST00000209875,;HNRNPA1,downstream_gene_variant,,ENST00000551702,;HNRNPA1,downstream_gene_variant,,ENST00000550994,;HNRNPA1,downstream_gene_variant,,ENST00000548688,;RP11-968A15.8,intron_variant,,ENST00000553061,;RP11-968A15.2,downstream_gene_variant,,ENST00000547177,;HNRNPA1,upstream_gene_variant,,ENST00000551803,;HNRNPA1,intron_variant,,ENST00000547566,;HNRNPA1,downstream_gene_variant,,ENST00000547870,;HNRNPA1,upstream_gene_variant,,ENST00000551679,;HNRNPA1,upstream_gene_variant,,ENST00000551665,;	835	69	75	SUCCESS
RPL10L	140801	.	GRCh37	14	47120791	47120791	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	87	0	ENST00000298283.3:c.149G>A	p.Gly50Asp	p.G50D	ENST00000298283	NM_080746.2	50	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32071.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCCACCG	NONE	.	.	hmmpanther:PTHR11726:SF9,hmmpanther:PTHR11726,TIGRFAM_domain:TIGR00279,Gene3D:3.90.1170.10,Pfam_domain:PF00252,PIRSF_domain:PIRSF005590,Superfamily_domains:SSF54686	.	.	ENSP00000298283	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000298283	Transcript	.	.	ENSG00000165496	17976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(0.16)	.	RL10L_HUMAN	RPL10L	HGNC	.	.	UPI0000073CA8	SNV	RPL10L,missense_variant,p.Gly50Asp,ENST00000298283,;	238	88	86	SUCCESS
ZNF410	57862	.	GRCh37	14	74363143	74363143	+	synonymous_variant	Silent	SNP	G	G	A	rs150263864	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	95	0	ENST00000555044.1:c.294G>A	p.Pro98=	p.P98=	ENST00000555044	NM_021188.2	98	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS55929.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGGAGTT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11389:SF363,hmmpanther:PTHR11389	.	A:0	ENSP00000407130	.	5/14	.	.	.	.	.	.	.	.	rs150263864	5/14	PASS	ENST00000442160	Transcript	.	.	ENSG00000119725	20144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN410_HUMAN	ZNF410	HGNC	G3V4E6_HUMAN	.	UPI00017A6BE1	SNV	ZNF410,synonymous_variant,p.%3D,ENST00000442160,;ZNF410,synonymous_variant,p.%3D,ENST00000557363,;ZNF410,synonymous_variant,p.%3D,ENST00000556797,;ZNF410,synonymous_variant,p.%3D,ENST00000557495,;ZNF410,synonymous_variant,p.%3D,ENST00000324593,;ZNF410,synonymous_variant,p.%3D,ENST00000334521,;ZNF410,synonymous_variant,p.%3D,ENST00000555730,;ZNF410,synonymous_variant,p.%3D,ENST00000556659,;ZNF410,synonymous_variant,p.%3D,ENST00000555044,;ZNF410,intron_variant,,ENST00000540593,;ZNF410,downstream_gene_variant,,ENST00000554797,;ZNF410,downstream_gene_variant,,ENST00000556160,;RP5-1021I20.5,non_coding_transcript_exon_variant,,ENST00000554009,;ZNF410,non_coding_transcript_exon_variant,,ENST00000412490,;ZNF410,non_coding_transcript_exon_variant,,ENST00000555602,;ZNF410,non_coding_transcript_exon_variant,,ENST00000541357,;ZNF410,missense_variant,p.Gly88Arg,ENST00000556396,;ZNF410,missense_variant,p.Gly88Arg,ENST00000554582,;ZNF410,synonymous_variant,p.%3D,ENST00000398139,;RP5-1021I20.4,3_prime_UTR_variant,,ENST00000556551,;	539	95	117	SUCCESS
GSTZ1	2954	.	GRCh37	14	77796672	77796672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	73	0	ENST00000216465.5:c.494G>T	p.Cys165Phe	p.C165F	ENST00000216465	NM_145870.2	165	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS9858.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGCTTGG	NONE	.	.	Superfamily_domains:SSF47616,Pfam_domain:PF00043,Gene3D:1.20.1050.10,TIGRFAM_domain:TIGR01262,hmmpanther:PTHR11260:SF176,hmmpanther:PTHR11260,PROSITE_profiles:PS50405	.	.	ENSP00000216465	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000216465	Transcript	.	.	ENSG00000100577	4643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.453)	.	tolerated(0.08)	.	MAAI_HUMAN	GSTZ1	HGNC	G3V5U6_HUMAN,G3V5G8_HUMAN	.	UPI000013C6F0	SNV	GSTZ1,missense_variant,p.Cys138Phe,ENST00000556627,;GSTZ1,missense_variant,p.Cys165Phe,ENST00000216465,;GSTZ1,missense_variant,p.Cys110Phe,ENST00000393734,;GSTZ1,missense_variant,p.Cys123Phe,ENST00000349555,;GSTZ1,missense_variant,p.Cys110Phe,ENST00000361389,;GSTZ1,missense_variant,p.Cys110Phe,ENST00000557639,;GSTZ1,missense_variant,p.Cys166Phe,ENST00000553586,;GSTZ1,missense_variant,p.Cys151Phe,ENST00000554279,;GSTZ1,missense_variant,p.Cys68Phe,ENST00000557053,;GSTZ1,downstream_gene_variant,,ENST00000554846,;TMED8,downstream_gene_variant,,ENST00000216468,;GSTZ1,downstream_gene_variant,,ENST00000555583,;GSTZ1,3_prime_UTR_variant,,ENST00000554381,;GSTZ1,non_coding_transcript_exon_variant,,ENST00000555208,;GSTZ1,non_coding_transcript_exon_variant,,ENST00000555093,;GSTZ1,downstream_gene_variant,,ENST00000553268,;GSTZ1,downstream_gene_variant,,ENST00000553431,;GSTZ1,downstream_gene_variant,,ENST00000556914,;GSTZ1,downstream_gene_variant,,ENST00000553838,;	779	73	69	SUCCESS
BTBD7	55727	.	GRCh37	14	93720038	93720038	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	67	0	ENST00000334746.5:c.1707C>A	p.Ile569=	p.I569=	ENST00000334746	NM_001002860.2	569	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS32146.1	1707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGATGCC	NONE	.	.	hmmpanther:PTHR16064	.	.	ENSP00000335615	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000334746	Transcript	.	.	ENSG00000011114	18269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBD7_HUMAN	BTBD7	HGNC	G3V2J4_HUMAN	.	UPI00001FDA78	SNV	BTBD7,synonymous_variant,p.%3D,ENST00000393170,;BTBD7,synonymous_variant,p.%3D,ENST00000553975,;BTBD7,synonymous_variant,p.%3D,ENST00000334746,;BTBD7,synonymous_variant,p.%3D,ENST00000554565,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;BTBD7,downstream_gene_variant,,ENST00000554644,;	2015	67	84	SUCCESS
SYNE3	161176	.	GRCh37	14	95942020	95942020	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	32	0	ENST00000334258.5:c.139A>G	p.Thr47Ala	p.T47A	ENST00000334258	NM_152592.3	47	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9935.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGTCTCCC	NONE	.	.	SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	.	.	ENSP00000334308	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000334258	Transcript	.	.	ENSG00000176438	19861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,missense_variant,p.Thr47Ala,ENST00000334258,;SYNE3,missense_variant,p.Thr47Ala,ENST00000557275,;SYNE3,missense_variant,p.Thr47Ala,ENST00000553340,;	154	32	23	SUCCESS
HYPK	25764	.	GRCh37	15	44093878	44093878	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	59	0	ENST00000406925.1:c.295-31G>T		p.*99*	ENST00000406925				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10104.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGGAACC	NONE	.	.	.	.	.	ENSP00000384474	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406925	Transcript	.	.	ENSG00000242028	18418	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYPK_HUMAN	HYPK	HGNC	.	.	UPI000000D937	SNV	HYPK,3_prime_UTR_variant,,ENST00000458412,;SERF2,intron_variant,,ENST00000594896,;HYPK,intron_variant,,ENST00000406925,;HYPK,intron_variant,,ENST00000442995,;SERF2,intron_variant,,ENST00000600633,;SERF2,downstream_gene_variant,,ENST00000430901,;SERINC4,upstream_gene_variant,,ENST00000249714,;SERINC4,upstream_gene_variant,,ENST00000299969,;SERINC4,upstream_gene_variant,,ENST00000319327,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000409291,;MFAP1,downstream_gene_variant,,ENST00000267812,;HYPK,intron_variant,,ENST00000497142,;HYPK,downstream_gene_variant,,ENST00000498605,;SERF2,intron_variant,,ENST00000409617,;SERF2,intron_variant,,ENST00000448830,;MFAP1,downstream_gene_variant,,ENST00000484386,;SERINC4,upstream_gene_variant,,ENST00000412697,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000457418,;SERINC4,upstream_gene_variant,,ENST00000476490,;SERINC4,upstream_gene_variant,,ENST00000448553,;	.	59	59	SUCCESS
NARG2	0	.	GRCh37	15	60740303	60740303	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	61	0	ENST00000261520.4:c.2161G>A	p.Glu721Lys	p.E721K	ENST00000261520	NM_024611.5	721	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10176.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTCCGATG	NONE	.	.	hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633,Pfam_domain:PF10505	.	.	ENSP00000261520	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000261520	Transcript	.	.	ENSG00000128915	29885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	NARG2_HUMAN	NARG2	HGNC	H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN	.	UPI00001A828C	SNV	NARG2,missense_variant,p.Glu721Lys,ENST00000261520,;NARG2,missense_variant,p.Glu584Lys,ENST00000439632,;NARG2,downstream_gene_variant,,ENST00000561114,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,non_coding_transcript_exon_variant,,ENST00000561144,;NARG2,intron_variant,,ENST00000561328,;	2396	61	74	SUCCESS
MAP2K1	5604	.	GRCh37	15	66729181	66729181	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121908595	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	74	0	ENST00000307102.5:c.389A>G	p.Tyr130Cys	p.Y130C	ENST00000307102	NM_002755.3	130	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10216.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CTTCTATGGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000302486	.	3/11	.	.	.	.	.	.	.	.	CM061104,rs121908595	3/11	PASS	ENST00000307102	Transcript	1	.	ENSG00000169032	6840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MP2K1_HUMAN	MAP2K1	HGNC	A4QPA9_HUMAN	.	UPI000013EBC9	SNV	MAP2K1,missense_variant,p.Tyr130Cys,ENST00000307102,;MAP2K1,non_coding_transcript_exon_variant,,ENST00000425818,;	920	74	51	SUCCESS
CHRNA3	1136	.	GRCh37	15	78893648	78893648	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	87	207	0	ENST00000326828.5:c.1336C>A	p.Gln446Lys	p.Q446K	ENST00000326828	NM_000743.4	446	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS10305.1	1336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTGGATGG	NONE	.	.	hmmpanther:PTHR18945:SF445,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000315602	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000326828	Transcript	1	.	ENSG00000080644	1957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.1)	.	ACHA3_HUMAN	CHRNA3	HGNC	Q6EWN2_HUMAN,B4DP53_HUMAN	.	UPI000013D783	SNV	CHRNA3,missense_variant,p.Gln446Lys,ENST00000326828,;CHRNA3,missense_variant,p.Gln446Lys,ENST00000348639,;CHRNA3,upstream_gene_variant,,ENST00000559002,;CHRNA3,downstream_gene_variant,,ENST00000558903,;CHRNA3,missense_variant,p.Gln446Lys,ENST00000559658,;	1721	207	230	SUCCESS
AXIN1	8312	.	GRCh37	16	360070	360070	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	32	0	ENST00000262320.3:c.1020-1G>T		p.X340_splice	ENST00000262320	NM_003502.3	340		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10405.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCCTGTCC	NONE	.	.	.	.	.	ENSP00000262320	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	3/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,splice_acceptor_variant,,ENST00000262320,;AXIN1,splice_acceptor_variant,,ENST00000354866,;AXIN1,splice_acceptor_variant,,ENST00000481769,;AXIN1,splice_acceptor_variant,,ENST00000461023,;	.	32	22	SUCCESS
PRPF8	10594	.	GRCh37	17	1580416	1580416	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	47	0	ENST00000304992.6:c.2035T>A	p.Ser679Thr	p.S679T	ENST00000304992	NM_006445.3	679	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS11010.1	2035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGACTCCA	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140,Pfam_domain:PF08083	.	.	ENSP00000460348	.	14/42	.	.	.	.	.	.	.	.	.	14/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	tolerated(0.15)	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,missense_variant,p.Ser624Thr,ENST00000577001,;PRPF8,missense_variant,p.Ser679Thr,ENST00000572621,;PRPF8,missense_variant,p.Ser679Thr,ENST00000304992,;PRPF8,non_coding_transcript_exon_variant,,ENST00000576407,;PRPF8,upstream_gene_variant,,ENST00000574217,;PRPF8,downstream_gene_variant,,ENST00000574728,;PRPF8,downstream_gene_variant,,ENST00000573716,;PRPF8,upstream_gene_variant,,ENST00000576958,;	2301	47	55	SUCCESS
USP32P1	162632	.	GRCh37	17	16703467	16703467	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	86	308	0	ENST00000393005.2:n.1338T>C		p.*446*	ENST00000393005				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTGACGC	NONE	.	.	.	.	.	ENSP00000439262	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,3_prime_UTR_variant,,ENST00000443444,;RP11-219A15.2,upstream_gene_variant,,ENST00000582895,;USP32P1,non_coding_transcript_exon_variant,,ENST00000341745,;RP11-219A15.4,non_coding_transcript_exon_variant,,ENST00000602730,;USP32P1,non_coding_transcript_exon_variant,,ENST00000445583,;USP32P1,non_coding_transcript_exon_variant,,ENST00000393005,;USP32P1,non_coding_transcript_exon_variant,,ENST00000444558,;USP32P1,downstream_gene_variant,,ENST00000578986,;USP32P1,downstream_gene_variant,,ENST00000437217,;USP32P1,downstream_gene_variant,,ENST00000577603,;USP32P1,downstream_gene_variant,,ENST00000582011,;USP32P1,downstream_gene_variant,,ENST00000417524,;USP32P1,downstream_gene_variant,,ENST00000456071,;RP11-219A15.1,3_prime_UTR_variant,,ENST00000448331,;USP32P1,non_coding_transcript_exon_variant,,ENST00000506594,;	6406	308	241	SUCCESS
SLFN14	342618	.	GRCh37	17	33884944	33884944	+	synonymous_variant	Silent	SNP	G	G	T	rs1243556594	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	58	130	0	ENST00000415846.3:c.138C>A	p.Ile46=	p.I46=	ENST00000415846	NM_001129820.1	46	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS45650.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGATAAT	NONE	.	.	hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF22	.	.	ENSP00000391101	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000415846	Transcript	.	.	ENSG00000236320	32689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLN14_HUMAN	SLFN14	HGNC	.	.	UPI000041A9FB	SNV	SLFN14,synonymous_variant,p.%3D,ENST00000415846,;RP11-1094M14.14,downstream_gene_variant,,ENST00000591634,;RP11-1094M14.12,downstream_gene_variant,,ENST00000588445,;	174	130	144	SUCCESS
GOSR2	9570	.	GRCh37	17	45015970	45015970	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	66	0	ENST00000393456.2:c.483T>G	p.Thr161=	p.T161=	ENST00000393456	NM_004287.3	161	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS11507.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTCAGAA	NONE	.	.	hmmpanther:PTHR21230:SF1,hmmpanther:PTHR21230,Gene3D:1.20.5.110,Pfam_domain:PF12352,PIRSF_domain:PIRSF028865,Superfamily_domains:SSF58038	.	.	ENSP00000225567	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000225567	Transcript	.	.	ENSG00000108433	4431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOSR2_HUMAN	GOSR2	HGNC	.	.	UPI000002AACF	SNV	GOSR2,synonymous_variant,p.%3D,ENST00000439730,;GOSR2,synonymous_variant,p.%3D,ENST00000393456,;GOSR2,synonymous_variant,p.%3D,ENST00000573224,;GOSR2,synonymous_variant,p.%3D,ENST00000225567,;GOSR2,synonymous_variant,p.%3D,ENST00000572403,;GOSR2,synonymous_variant,p.%3D,ENST00000576910,;GOSR2,synonymous_variant,p.%3D,ENST00000570879,;GOSR2,downstream_gene_variant,,ENST00000415811,;RP11-156P1.2,synonymous_variant,p.%3D,ENST00000571841,;	514	66	64	SUCCESS
TOM1L1	10040	.	GRCh37	17	53027430	53027430	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs545805013	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	73	0	ENST00000575882.1:c.1313C>T	p.Pro438Leu	p.P438L	ENST00000575882	NM_005486.2	438	cCa/cTa	0	.	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS11582.1	1313	MUTECT|MUSE	.	CCAGCCACCTA	NONE	by1000G	.	hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,PIRSF_domain:PIRSF036948	T:0.001	.	ENSP00000460823	T:0	14/16	.	.	.	.	.	.	.	.	rs545805013	14/16	PASS	ENST00000575882	Transcript	.	T:0.0002	ENSG00000141198	11983	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	T:0	tolerated(0.28)	.	TM1L1_HUMAN	TOM1L1	HGNC	I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN	.	UPI000003E7E0	SNV	TOM1L1,missense_variant,p.Pro94Leu,ENST00000574318,;TOM1L1,missense_variant,p.Pro427Leu,ENST00000445275,;TOM1L1,missense_variant,p.Pro326Leu,ENST00000540336,;TOM1L1,missense_variant,p.Pro361Leu,ENST00000536554,;TOM1L1,missense_variant,p.Pro431Leu,ENST00000572158,;TOM1L1,missense_variant,p.Pro361Leu,ENST00000348161,;TOM1L1,missense_variant,p.Pro438Leu,ENST00000575882,;COX11,downstream_gene_variant,,ENST00000573912,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000574653,;COX11,downstream_gene_variant,,ENST00000574821,;COX11,downstream_gene_variant,,ENST00000572088,;COX11,downstream_gene_variant,,ENST00000576370,;COX11,downstream_gene_variant,,ENST00000572558,;COX11,downstream_gene_variant,,ENST00000576084,;TOM1L1,downstream_gene_variant,,ENST00000572905,;TOM1L1,downstream_gene_variant,,ENST00000576932,;	1666	73	75	SUCCESS
UNC13D	201294	.	GRCh37	17	73840324	73840324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766863447	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	23	0	ENST00000207549.4:c.95C>T	p.Pro32Leu	p.P32L	ENST00000207549	NM_199242.2	32	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11730.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGGATCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15015:SF20,hmmpanther:PTHR15015	.	.	ENSP00000207549	.	1/32	.	.	.	.	.	.	.	.	rs766863447	1/32	PASS	ENST00000207549	Transcript	.	.	ENSG00000092929	23147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.08)	.	UN13D_HUMAN	UNC13D	HGNC	K7EIH3_HUMAN	.	UPI000015FC91	SNV	UNC13D,missense_variant,p.Pro32Leu,ENST00000412096,;UNC13D,missense_variant,p.Pro31Leu,ENST00000592386,;UNC13D,missense_variant,p.Pro32Leu,ENST00000586147,;UNC13D,missense_variant,p.Pro32Leu,ENST00000586108,;UNC13D,missense_variant,p.Pro32Leu,ENST00000207549,;WBP2,downstream_gene_variant,,ENST00000433525,;WBP2,downstream_gene_variant,,ENST00000590221,;UNC13D,upstream_gene_variant,,ENST00000590762,;WBP2,downstream_gene_variant,,ENST00000591399,;WBP2,downstream_gene_variant,,ENST00000589642,;WBP2,downstream_gene_variant,,ENST00000586257,;WBP2,downstream_gene_variant,,ENST00000587374,;WBP2,downstream_gene_variant,,ENST00000254806,;WBP2,downstream_gene_variant,,ENST00000585462,;WBP2,downstream_gene_variant,,ENST00000593002,;WBP2,downstream_gene_variant,,ENST00000344296,;UNC13D,upstream_gene_variant,,ENST00000585574,;UNC13D,upstream_gene_variant,,ENST00000587504,;WBP2,downstream_gene_variant,,ENST00000590450,;UNC13D,non_coding_transcript_exon_variant,,ENST00000588774,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;WBP2,downstream_gene_variant,,ENST00000589241,;WBP2,downstream_gene_variant,,ENST00000589236,;WBP2,downstream_gene_variant,,ENST00000588373,;UNC13D,upstream_gene_variant,,ENST00000587495,;WBP2,downstream_gene_variant,,ENST00000591831,;UNC13D,upstream_gene_variant,,ENST00000587105,;WBP2,downstream_gene_variant,,ENST00000587642,;WBP2,downstream_gene_variant,,ENST00000416574,;	475	23	20	SUCCESS
TP53	7157	.	GRCh37	17	7577022	7577022	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs121913344	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	60	1	ENST00000269305.4:c.916C>T	p.Arg306Ter	p.R306*	ENST00000269305	NM_001126112.2	306	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11118.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	ACCTCGCTTAG	SITE|p.R306*|c.916C>T|16,SITE|p.R306*|c.916C>T|152,SITE|p.R306*|c.916C>T|24,SITE|p.R306*|c.916C>T|43,CODON|p.0?|c.1_1182del1182|6,BUFFER|p.?|c.919+2T>G|3,BUFFER|p.?|c.919+1G>C|4,BUFFER|p.?|c.919+1G>T|9,BUFFER|p.?|c.919+1G>A|6,BUFFER|p.?|c.919+1G>A|10,BUFFER|p.A307fs*38|c.919delG|4,BUFFER|p.K305N|c.915G>T|3,BUFFER|p.K305*|c.913A>T|16,BUFFER|p.K305*|c.913A>T|3,BUFFER|p.S303N|c.908G>A|3,BUFFER|p.S303T|c.908G>C|3,BUFFER|p.G302E|c.905G>A|3,BUFFER|p.S303fs*42|c.904delG|5	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM971506,rs121913344,TP53_g.13896del,TP53_g.13896C>T,COSM10663,COSM44631,COSM99947,COSM3388168,COSM1640820	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,0,0,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Arg306Ter,ENST00000420246,;TP53,stop_gained,p.Arg306Ter,ENST00000269305,;TP53,stop_gained,p.Arg174Ter,ENST00000509690,;TP53,stop_gained,p.Arg306Ter,ENST00000359597,;TP53,stop_gained,p.Arg306Ter,ENST00000445888,;TP53,stop_gained,p.Arg306Ter,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1106	61	37	SUCCESS
TMEM88	92162	.	GRCh37	17	7758491	7758491	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	18	41	0	ENST00000301599.6:c.99C>T	p.Ala33=	p.A33=	ENST00000301599	NM_203411.1	33	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11121.1	99	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCCAGAA	NONE	.	.	.	.	.	ENSP00000301599	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000301599	Transcript	.	.	ENSG00000167874	32371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM88_HUMAN	TMEM88	HGNC	.	.	UPI0000197213	SNV	TMEM88,synonymous_variant,p.%3D,ENST00000301599,;TMEM88,synonymous_variant,p.%3D,ENST00000574668,;LSMD1,downstream_gene_variant,,ENST00000335155,;KDM6B,downstream_gene_variant,,ENST00000448097,;LSMD1,downstream_gene_variant,,ENST00000333775,;LSMD1,downstream_gene_variant,,ENST00000575071,;CYB5D1,upstream_gene_variant,,ENST00000570446,;CYB5D1,upstream_gene_variant,,ENST00000332439,;LSMD1,downstream_gene_variant,,ENST00000576384,;LSMD1,downstream_gene_variant,,ENST00000576861,;LSMD1,downstream_gene_variant,,ENST00000575208,;LSMD1,downstream_gene_variant,,ENST00000575771,;KDM6B,downstream_gene_variant,,ENST00000254846,;CYB5D1,upstream_gene_variant,,ENST00000571846,;LSMD1,downstream_gene_variant,,ENST00000570555,;CYB5D1,upstream_gene_variant,,ENST00000574357,;CYB5D1,upstream_gene_variant,,ENST00000574196,;CYB5D1,upstream_gene_variant,,ENST00000573940,;	109	41	24	SUCCESS
CHD3	1107	.	GRCh37	17	7811224	7811224	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1298854987	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	71	0	ENST00000330494.7:c.5039G>T	p.Gly1680Val	p.G1680V	ENST00000330494	NM_001005273.2	1680	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32553.2	5216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGGTGACC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF544	.	.	ENSP00000369716	.	34/40	.	.	.	.	.	.	.	.	.	34/40	PASS	ENST00000380358	Transcript	.	.	ENSG00000170004	1918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	.	.	CHD3_HUMAN	CHD3	HGNC	Q2TAZ1_HUMAN	.	UPI00004DDA7C	SNV	CHD3,missense_variant,p.Gly1739Val,ENST00000380358,;CHD3,missense_variant,p.Gly1646Val,ENST00000358181,;CHD3,missense_variant,p.Gly8Val,ENST00000439235,;CHD3,missense_variant,p.Gly1680Val,ENST00000330494,;CHD3,upstream_gene_variant,,ENST00000449744,;CHD3,upstream_gene_variant,,ENST00000573936,;SCARNA21,downstream_gene_variant,,ENST00000517026,;CHD3,3_prime_UTR_variant,,ENST00000470531,;CHD3,non_coding_transcript_exon_variant,,ENST00000572750,;CHD3,downstream_gene_variant,,ENST00000466233,;CHD3,downstream_gene_variant,,ENST00000473376,;CHD3,upstream_gene_variant,,ENST00000481999,;	5217	71	23	SUCCESS
ALOX12B	242	.	GRCh37	17	7983975	7983975	+	splice_donor_variant	Splice_Site	SNP	C	C	A	rs745818573	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	38	74	1	ENST00000319144.4:c.650+1G>T		p.X217_splice	ENST00000319144	NM_001139.2	217		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11129.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACATGGG	NONE	.	.	.	.	.	ENSP00000315167	.	.	.	.	.	.	.	.	.	.	rs745818573	.	PASS	ENST00000319144	Transcript	.	.	ENSG00000179477	430	.	.	HIGH	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LX12B_HUMAN	ALOX12B	HGNC	.	.	UPI000000D996	SNV	ALOX12B,splice_donor_variant,,ENST00000319144,;AC129492.6,3_prime_UTR_variant,,ENST00000399413,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000584116,;ALOX12B,upstream_gene_variant,,ENST00000583276,;	.	75	58	SUCCESS
ODF4	146852	.	GRCh37	17	8243610	8243610	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	26	65	0	ENST00000328248.2:c.241C>T	p.Gln81Ter	p.Q81*	ENST00000328248	NM_153007.4	81	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS11140.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCAGGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10671:SF24,hmmpanther:PTHR10671	.	.	ENSP00000331086	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000328248	Transcript	.	.	ENSG00000184650	19056	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODFP4_HUMAN	ODF4	HGNC	.	.	UPI000013F20D	SNV	ODF4,stop_gained,p.Gln81Ter,ENST00000328248,;ODF4,intron_variant,,ENST00000584943,;RP11-849F2.4,downstream_gene_variant,,ENST00000585275,;	429	65	39	SUCCESS
POTEC	388468	.	GRCh37	18	14542851	14542851	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	86	225	0	ENST00000358970.5:c.295G>T	p.Gly99Cys	p.G99C	ENST00000358970	NM_001137671.1	99	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS45835.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCCCATCT	NONE	.	.	hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118	.	.	ENSP00000351856	.	1/11	.	.	.	.	.	.	.	.	COSM337497	1/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.212)	.	deleterious_low_confidence(0.02)	1	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,missense_variant,p.Gly99Cys,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Gly99Cys,ENST00000511306,;	295	225	251	SUCCESS
DTNA	1837	.	GRCh37	18	32418793	32418793	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1396259577	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	75	1	ENST00000399113.3:c.1257C>A	p.Asn419Lys	p.N419K	ENST00000399113		419	aaC/aaA	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59312.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAACCCCTC	NONE	.	.	.	.	.	ENSP00000470152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000598334	Transcript	.	.	ENSG00000134769	3057	.	.	MODIFIER	11/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DTNA	HGNC	M0QYX6_HUMAN,K7ERZ2_HUMAN,K7ERH7_HUMAN,K7ER73_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN	.	UPI0001E92A2F	SNV	DTNA,missense_variant,p.Asn419Lys,ENST00000399113,;DTNA,missense_variant,p.Asn416Lys,ENST00000348997,;DTNA,missense_variant,p.Asn419Lys,ENST00000444659,;DTNA,missense_variant,p.Asn420Lys,ENST00000269190,;DTNA,missense_variant,p.Asn419Lys,ENST00000269191,;DTNA,missense_variant,p.Asn128Lys,ENST00000269192,;DTNA,intron_variant,,ENST00000598334,;DTNA,intron_variant,,ENST00000598774,;DTNA,intron_variant,,ENST00000597599,;DTNA,intron_variant,,ENST00000587723,;DTNA,intron_variant,,ENST00000597674,;DTNA,intron_variant,,ENST00000399121,;DTNA,intron_variant,,ENST00000556414,;DTNA,intron_variant,,ENST00000591182,;DTNA,intron_variant,,ENST00000596745,;DTNA,intron_variant,,ENST00000598142,;DTNA,intron_variant,,ENST00000599844,;DTNA,intron_variant,,ENST00000595022,;DTNA,intron_variant,,ENST00000601125,;DTNA,intron_variant,,ENST00000283365,;DTNA,intron_variant,,ENST00000399097,;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;DTNA,intron_variant,,ENST00000601895,;	.	76	90	SUCCESS
TCF4	6925	.	GRCh37	18	52901914	52901914	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	41	0	ENST00000356073.4:c.1351G>A	p.Val451Met	p.V451M	ENST00000356073	NM_003199.2	451	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS58631.1	1657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCACCTGAA	NONE	.	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10	.	.	ENSP00000381382	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000398339	Transcript	.	.	ENSG00000196628	11634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	tolerated(0.06)	.	.	TCF4	HGNC	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN,E9PH57_HUMAN	.	UPI000059D58C	SNV	TCF4,missense_variant,p.Val321Met,ENST00000570177,;TCF4,missense_variant,p.Val426Met,ENST00000568740,;TCF4,missense_variant,p.Val451Met,ENST00000565018,;TCF4,missense_variant,p.Val391Met,ENST00000566279,;TCF4,missense_variant,p.Val427Met,ENST00000568673,;TCF4,missense_variant,p.Val427Met,ENST00000537578,;TCF4,missense_variant,p.Val380Met,ENST00000544241,;TCF4,missense_variant,p.Val553Met,ENST00000398339,;TCF4,missense_variant,p.Val457Met,ENST00000564403,;TCF4,missense_variant,p.Val291Met,ENST00000570287,;TCF4,missense_variant,p.Val409Met,ENST00000543082,;TCF4,missense_variant,p.Val448Met,ENST00000566286,;TCF4,missense_variant,p.Val391Met,ENST00000567880,;TCF4,missense_variant,p.Val380Met,ENST00000564228,;TCF4,missense_variant,p.Val321Met,ENST00000537856,;TCF4,missense_variant,p.Val451Met,ENST00000354452,;TCF4,missense_variant,p.Val427Met,ENST00000540999,;TCF4,missense_variant,p.Val291Met,ENST00000561831,;TCF4,missense_variant,p.Val451Met,ENST00000564999,;TCF4,missense_variant,p.Val291Met,ENST00000457482,;TCF4,missense_variant,p.Val451Met,ENST00000356073,;TCF4,missense_variant,p.Val321Met,ENST00000561992,;TCF4,splice_region_variant,,ENST00000562680,;	1714	41	26	SUCCESS
NETO1	81832	.	GRCh37	18	70417752	70417752	+	synonymous_variant	Silent	SNP	G	G	A	rs145217972	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	54	0	ENST00000327305.6:c.1086C>T	p.Ile362=	p.I362=	ENST00000327305	NM_138966.3	362	atC/atT	0	A:0.0002	.	.	.	.	A	I	protein_coding	YES	CCDS12000.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACGATGAC	NONE	byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127	.	A:0	ENSP00000313088	.	9/11	.	.	.	.	.	.	.	.	rs145217972	9/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,synonymous_variant,p.%3D,ENST00000327305,;NETO1,synonymous_variant,p.%3D,ENST00000583169,;NETO1,synonymous_variant,p.%3D,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;	1744	54	67	SUCCESS
PRKCSH	5589	.	GRCh37	19	11548763	11548763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	43	136	1	ENST00000589838.1:c.263C>T	p.Pro88Leu	p.P88L	ENST00000589838		88	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32911.1	263	RADIA|SOMATICSNIPER|VARSCANS	.	TATCCCCTCCA	NONE	.	.	hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF1,Gene3D:4.10.400.10,Pfam_domain:PF12999,Superfamily_domains:SSF57424	.	.	ENSP00000252455	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000252455	Transcript	1	.	ENSG00000130175	9411	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.026)	.	tolerated(0.1)	.	GLU2B_HUMAN	PRKCSH	HGNC	K7EPW7_HUMAN,K7EKX1_HUMAN,K7EJ70_HUMAN,K7EIP3_HUMAN	.	UPI000007007F	SNV	PRKCSH,missense_variant,p.Pro88Leu,ENST00000587509,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000589838,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000412601,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000593101,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000592741,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000591462,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000587327,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000589126,;PRKCSH,missense_variant,p.Pro88Leu,ENST00000252455,;PRKCSH,downstream_gene_variant,,ENST00000591946,;PRKCSH,downstream_gene_variant,,ENST00000588269,;CCDC151,upstream_gene_variant,,ENST00000356392,;CCDC151,upstream_gene_variant,,ENST00000545100,;CCDC151,upstream_gene_variant,,ENST00000591179,;CCDC151,upstream_gene_variant,,ENST00000586836,;snoU13,upstream_gene_variant,,ENST00000459022,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000593104,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000593053,;PRKCSH,upstream_gene_variant,,ENST00000589990,;CCDC151,upstream_gene_variant,,ENST00000593281,;CCDC151,upstream_gene_variant,,ENST00000591345,;	599	138	124	SUCCESS
CACNA1A	773	.	GRCh37	19	13387893	13387893	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	44	0	ENST00000360228.5:c.3872T>C	p.Met1291Thr	p.M1291T	ENST00000360228	NM_001127222.1	1291	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS45998.1	3872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCATCTCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000353362	.	23/47	.	.	.	.	.	.	.	.	.	23/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Met1292Thr,ENST00000573710,;CACNA1A,missense_variant,p.Met1291Thr,ENST00000360228,;CACNA1A,upstream_gene_variant,,ENST00000585802,;	3872	44	49	SUCCESS
KIAA0355	0	.	GRCh37	19	34810943	34810943	+	synonymous_variant	Silent	SNP	C	C	T	rs772182883	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	102	0	ENST00000299505.6:c.627C>T	p.Gly209=	p.G209=	ENST00000299505	NM_014686.3	209	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12436.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCAGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	.	ENSP00000299505	.	3/14	.	.	.	.	.	.	.	.	rs772182883	3/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,synonymous_variant,p.%3D,ENST00000299505,;KIAA0355,intron_variant,,ENST00000588338,;KIAA0355,downstream_gene_variant,,ENST00000588470,;	1500	102	92	SUCCESS
NUP62	23636	.	GRCh37	19	50411919	50411919	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	54	0	ENST00000352066.3:c.1146G>T	p.Val382=	p.V382=	ENST00000352066	NM_016553.4	382	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12788.1	1146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTCACCTT	NONE	.	.	Pfam_domain:PF05064,hmmpanther:PTHR12084,hmmpanther:PTHR12084:SF2,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000471191	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000596217	Transcript	1	.	ENSG00000213024	8066	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP62_HUMAN	NUP62	HGNC	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN	.	UPI000013EAFD	SNV	NUP62,synonymous_variant,p.%3D,ENST00000413454,;NUP62,synonymous_variant,p.%3D,ENST00000422090,;NUP62,synonymous_variant,p.%3D,ENST00000597723,;NUP62,synonymous_variant,p.%3D,ENST00000596217,;NUP62,synonymous_variant,p.%3D,ENST00000352066,;NUP62,synonymous_variant,p.%3D,ENST00000597029,;IL4I1,intron_variant,,ENST00000597295,;IL4I1,intron_variant,,ENST00000596011,;IL4I1,intron_variant,,ENST00000596022,;IL4I1,intron_variant,,ENST00000341114,;IL4I1,intron_variant,,ENST00000595948,;NUP62,downstream_gene_variant,,ENST00000595761,;NUP62,downstream_gene_variant,,ENST00000596437,;NUP62,downstream_gene_variant,,ENST00000599788,;NUP62,downstream_gene_variant,,ENST00000596680,;NUP62,downstream_gene_variant,,ENST00000600645,;NUP62,downstream_gene_variant,,ENST00000600935,;NUP62,downstream_gene_variant,,ENST00000594673,;NUP62,downstream_gene_variant,,ENST00000593652,;NUP62,downstream_gene_variant,,ENST00000599567,;NUP62,downstream_gene_variant,,ENST00000599830,;NUP62,downstream_gene_variant,,ENST00000599560,;NUP62,downstream_gene_variant,,ENST00000601665,;NUP62,downstream_gene_variant,,ENST00000600583,;NUP62,downstream_gene_variant,,ENST00000597814,;NUP62,downstream_gene_variant,,ENST00000595463,;NUP62,downstream_gene_variant,,ENST00000595373,;NUP62,downstream_gene_variant,,ENST00000599186,;NUP62,downstream_gene_variant,,ENST00000598301,;IL4I1,intron_variant,,ENST00000601717,;CTC-326K19.6,downstream_gene_variant,,ENST00000451973,;	3034	54	57	SUCCESS
SHANK1	50944	.	GRCh37	19	51169520	51169526	+	frameshift_variant	Frame_Shift_Del	DEL	CCCACTG	CCCACTG	-	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	CCCACTG	CCCACTG	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	32	0	ENST00000293441.1:c.5691_5697del	p.Ser1898GlufsTer233	p.S1898Efs*233	ENST00000293441	NM_016148.2	1897	ggCAGTGGG/gg	0	.	.	.	.	.	-	GSG/X	protein_coding	YES	CCDS12799.1	5691-5697	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTCCCCCACTGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	deletion	SHANK1,frameshift_variant,p.Ser1906GlufsTer233,ENST00000391814,;SHANK1,frameshift_variant,p.Ser1285GlufsTer233,ENST00000391813,;SHANK1,frameshift_variant,p.Ser1889GlufsTer233,ENST00000359082,;SHANK1,frameshift_variant,p.Ser1898GlufsTer233,ENST00000293441,;SYT3,intron_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,frameshift_variant,p.Ser156GlufsTer25,ENST00000468654,;	5710-5716	32	46	SUCCESS
MUC16	94025	.	GRCh37	19	9057255	9057255	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	108	0	ENST00000397910.4:c.30191C>A	p.Thr10064Lys	p.T10064K	ENST00000397910	NM_024690.2	10064	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS54212.1	30191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTGTGTCT	NONE	.	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr10064Lys,ENST00000397910,;	30395	108	87	SUCCESS
PEX14	5195	.	GRCh37	1	10678434	10678434	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	28	0	ENST00000356607.4:c.344T>C	p.Ile115Thr	p.I115T	ENST00000356607	NM_004565.2	115	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS30582.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATCATGG	NONE	.	.	hmmpanther:PTHR23058,Pfam_domain:PF04695	.	.	ENSP00000349016	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000356607	Transcript	.	.	ENSG00000142655	8856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PEX14_HUMAN	PEX14	HGNC	F5H4J2_HUMAN	.	UPI000013170A	SNV	PEX14,missense_variant,p.Ile51Thr,ENST00000538836,;PEX14,missense_variant,p.Ile115Thr,ENST00000356607,;PEX14,missense_variant,p.Ile110Thr,ENST00000491661,;RN7SL614P,downstream_gene_variant,,ENST00000461850,;	424	28	21	SUCCESS
RFX5	5993	.	GRCh37	1	151316341	151316341	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	103	0	ENST00000290524.4:c.573A>G	p.Glu191=	p.E191=	ENST00000290524	NM_000449.3	191	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS994.1	573	MUTECT|MUSE	.	GTTACTTCTGG	NONE	.	.	hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF18	.	.	ENSP00000290524	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000290524	Transcript	.	.	ENSG00000143390	9986	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFX5_HUMAN	RFX5	HGNC	Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN	.	UPI0000000E8B	SNV	RFX5,synonymous_variant,p.%3D,ENST00000392746,;RFX5,synonymous_variant,p.%3D,ENST00000452513,;RFX5,synonymous_variant,p.%3D,ENST00000452671,;RFX5,synonymous_variant,p.%3D,ENST00000436637,;RFX5,synonymous_variant,p.%3D,ENST00000368870,;RFX5,synonymous_variant,p.%3D,ENST00000290524,;RFX5,synonymous_variant,p.%3D,ENST00000422595,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000450506,;RFX5,downstream_gene_variant,,ENST00000458484,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000436271,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,non_coding_transcript_exon_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000469513,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000494217,;	752	103	75	SUCCESS
LAMTOR2	28956	.	GRCh37	1	156024661	156024661	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	82	0	ENST00000368305.4:c.-20C>T		p.*7*	ENST00000368305	NM_014017.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1128.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCAGGGT	NONE	.	.	.	.	.	ENSP00000357288	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000368305	Transcript	.	.	ENSG00000116586	29796	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTOR2_HUMAN	LAMTOR2	HGNC	.	.	UPI000012E762	SNV	LAMTOR2,5_prime_UTR_variant,,ENST00000368302,;LAMTOR2,5_prime_UTR_variant,,ENST00000368305,;LAMTOR2,5_prime_UTR_variant,,ENST00000368304,;UBQLN4,upstream_gene_variant,,ENST00000368309,;LAMTOR2,non_coding_transcript_exon_variant,,ENST00000489664,;LAMTOR2,upstream_gene_variant,,ENST00000463371,;UBQLN4,upstream_gene_variant,,ENST00000472638,;LAMTOR2,upstream_gene_variant,,ENST00000487106,;	119	82	80	SUCCESS
KIF14	9928	.	GRCh37	1	200587131	200587131	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	44	144	0	ENST00000367350.4:c.721del	p.Gln241ArgfsTer33	p.Q241Rfs*33	ENST00000367350	NM_014875.2	241	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS30963.1	721	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTCTGAGTAG	NONE	.	.	.	.	.	ENSP00000356319	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	deletion	KIF14,frameshift_variant,p.Gln241ArgfsTer33,ENST00000367350,;	1160	144	163	SUCCESS
LGR6	59352	.	GRCh37	1	202249945	202249945	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	42	0	ENST00000367278.3:c.681C>A	p.Thr227=	p.T227=	ENST00000367278	NM_001017403.1	227	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30971.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCCACAG	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00365,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,PROSITE_profiles:PS51450	.	.	ENSP00000356247	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,synonymous_variant,p.%3D,ENST00000255432,;LGR6,synonymous_variant,p.%3D,ENST00000367278,;LGR6,intron_variant,,ENST00000423542,;LGR6,intron_variant,,ENST00000439764,;LGR6,non_coding_transcript_exon_variant,,ENST00000308543,;LGR6,non_coding_transcript_exon_variant,,ENST00000506931,;LGR6,synonymous_variant,p.%3D,ENST00000487787,;	770	42	71	SUCCESS
ADIPOR1	51094	.	GRCh37	1	202914287	202914287	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	123	1	ENST00000340990.5:c.441G>T	p.Leu147=	p.L147=	ENST00000340990	NM_015999.4	147	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1430.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAACAGCAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF40,Pfam_domain:PF03006	.	.	ENSP00000341785	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000340990	Transcript	.	.	ENSG00000159346	24040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADR1_HUMAN	ADIPOR1	HGNC	C9JNM5_HUMAN,C9J0W7_HUMAN	.	UPI000003779A	SNV	ADIPOR1,synonymous_variant,p.%3D,ENST00000436244,;ADIPOR1,synonymous_variant,p.%3D,ENST00000340990,;ADIPOR1,synonymous_variant,p.%3D,ENST00000426229,;ADIPOR1,synonymous_variant,p.%3D,ENST00000417068,;ADIPOR1,intron_variant,,ENST00000367254,;ADIPOR1,upstream_gene_variant,,ENST00000495562,;	740	125	123	SUCCESS
CR2	1380	.	GRCh37	1	207642179	207642179	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	89	221	2	ENST00000367058.3:c.669T>A	p.Asn223Lys	p.N223K	ENST00000367058	NM_001877.4	223	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS31007.1	669	RADIA|SOMATICSNIPER|VARSCANS	.	CCCAATGGGAA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Asn223Lys,ENST00000458541,;CR2,missense_variant,p.Asn223Lys,ENST00000367057,;CR2,missense_variant,p.Asn223Lys,ENST00000367058,;CR2,missense_variant,p.Asn223Lys,ENST00000367059,;CR2,non_coding_transcript_exon_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;CR2,downstream_gene_variant,,ENST00000479186,;	858	223	237	SUCCESS
HHAT	55733	.	GRCh37	1	210637852	210637852	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	44	135	2	ENST00000261458.3:c.860G>C	p.Gly287Ala	p.G287A	ENST00000261458	NM_018194.4	287	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS53471.1	863	RADIA|VARSCANS	.	AGGAGGACTGG	NONE	.	.	hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20,Pfam_domain:PF03062	.	.	ENSP00000438468	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Gly224Ala,ENST00000545781,;HHAT,missense_variant,p.Gly287Ala,ENST00000367010,;HHAT,missense_variant,p.Gly287Ala,ENST00000413764,;HHAT,missense_variant,p.Gly222Ala,ENST00000537898,;HHAT,missense_variant,p.Gly242Ala,ENST00000308852,;HHAT,missense_variant,p.Gly288Ala,ENST00000545154,;HHAT,missense_variant,p.Gly287Ala,ENST00000391905,;HHAT,missense_variant,p.Gly150Ala,ENST00000541565,;HHAT,missense_variant,p.Gly287Ala,ENST00000261458,;HHAT,missense_variant,p.Gly159Ala,ENST00000426968,;HHAT,5_prime_UTR_variant,,ENST00000367009,;RP5-879K22.1,upstream_gene_variant,,ENST00000605288,;	968	137	128	SUCCESS
TGFB2	7042	.	GRCh37	1	218520094	218520094	+	synonymous_variant	Silent	SNP	C	C	T	rs549320294	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	69	0	ENST00000366930.4:c.51C>T	p.Val17=	p.V17=	ENST00000366930	NM_003238.3	17	gtC/gtT	0	.	T:0	.	T:0	.	T	V	protein_coding	YES	CCDS44318.1	51	MUTECT|MUSE	.	ACGGTCGCGCT	NONE	by1000G	.	Prints_domain:PR01423,Prints_domain:PR01425,PIRSF_domain:PIRSF001787,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	T:0	.	ENSP00000355896	T:0	1/8	.	.	.	.	.	.	.	.	rs549320294	1/8	PASS	ENST00000366929	Transcript	.	T:0.0002	ENSG00000092969	11768	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	TGFB2_HUMAN	TGFB2	HGNC	.	.	UPI000016B0C1	SNV	TGFB2,synonymous_variant,p.%3D,ENST00000366929,;TGFB2,synonymous_variant,p.%3D,ENST00000366930,;RP11-224O19.2,upstream_gene_variant,,ENST00000414452,;TGFB2,upstream_gene_variant,,ENST00000488793,;	518	69	52	SUCCESS
OR2T11	127077	.	GRCh37	1	248790035	248790035	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1287482326	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	84	0	ENST00000330803.2:c.395T>C	p.Leu132Pro	p.L132P	ENST00000330803	NM_001001964.1	132	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31122.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCAGGACT	BUFFER|p.R135C|c.403C>T|3	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF173,PROSITE_profiles:PS50262	.	.	ENSP00000328934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330803	Transcript	.	.	ENSG00000183130	19574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O2T11_HUMAN	OR2T11	HGNC	.	.	UPI000004F23F	SNV	OR2T11,missense_variant,p.Leu132Pro,ENST00000330803,;	457	84	82	SUCCESS
PRDM16	63976	.	GRCh37	1	3328405	3328405	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	24	0	ENST00000270722.5:c.1644C>T	p.Pro548=	p.P548=	ENST00000270722		548	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41236.2	1644	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGTCC	NONE	.	.	hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393	.	.	ENSP00000270722	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,synonymous_variant,p.%3D,ENST00000441472,;PRDM16,synonymous_variant,p.%3D,ENST00000514189,;PRDM16,synonymous_variant,p.%3D,ENST00000509860,;PRDM16,synonymous_variant,p.%3D,ENST00000270722,;PRDM16,synonymous_variant,p.%3D,ENST00000442529,;PRDM16,synonymous_variant,p.%3D,ENST00000511072,;PRDM16,synonymous_variant,p.%3D,ENST00000378398,;PRDM16,synonymous_variant,p.%3D,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	1693	24	36	SUCCESS
EFCAB8	388795	.	GRCh37	20	31481009	31481009	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	59	78	0	ENST00000400522.4:c.788A>G	p.Tyr263Cys	p.Y263C	ENST00000400522		263	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTATGGAG	NONE	.	.	hmmpanther:PTHR19847,hmmpanther:PTHR19847:SF8,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000383366	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000400522	Transcript	.	.	ENSG00000215529	34532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB8_HUMAN	EFCAB8	HGNC	.	.	UPI0002466C6B	SNV	EFCAB8,missense_variant,p.Tyr263Cys,ENST00000400522,;	882	78	111	SUCCESS
CCT8	10694	.	GRCh37	21	30445937	30445937	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs775759894	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	44	0	ENST00000286788.4:c.-26C>T		p.*9*	ENST00000286788	NM_006585.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33528.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGCGACC	NONE	byFrequency	.	.	.	.	ENSP00000286788	.	1/15	.	.	.	.	.	.	.	.	rs775759894	1/15	PASS	ENST00000286788	Transcript	.	.	ENSG00000156261	1623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPQ_HUMAN	CCT8	HGNC	Q7Z759_HUMAN	.	UPI0000136B0D	SNV	CCT8,5_prime_UTR_variant,,ENST00000286788,;CCT8,5_prime_UTR_variant,,ENST00000540844,;MAP3K7CL,upstream_gene_variant,,ENST00000545939,;CCT8,upstream_gene_variant,,ENST00000431234,;MAP3K7CL,upstream_gene_variant,,ENST00000341618,;MAP3K7CL,upstream_gene_variant,,ENST00000286791,;MAP3K7CL,upstream_gene_variant,,ENST00000399935,;MAP3K7CL,upstream_gene_variant,,ENST00000399934,;MAP3K7CL,upstream_gene_variant,,ENST00000419845,;CCT8,upstream_gene_variant,,ENST00000542732,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;MAP3K7CL,upstream_gene_variant,,ENST00000492930,;MAP3K7CL,upstream_gene_variant,,ENST00000496779,;CCT8,upstream_gene_variant,,ENST00000494296,;CCT8,upstream_gene_variant,,ENST00000481059,;CCT8,upstream_gene_variant,,ENST00000484403,;	182	44	27	SUCCESS
P2RX6	9127	.	GRCh37	22	21380718	21380718	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	65	0	ENST00000413302.2:c.1138C>T	p.Pro380Ser	p.P380S	ENST00000413302		380	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS13788.2	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCGAAA	NONE	.	.	hmmpanther:PTHR10125:SF21,hmmpanther:PTHR10125,Pfam_domain:PF00864,Prints_domain:PR01313	.	.	ENSP00000416193	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000413302	Transcript	.	.	ENSG00000099957	8538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	tolerated(0.11)	.	P2RX6_HUMAN	P2RX6	HGNC	.	.	UPI000013C698	SNV	P2RX6,missense_variant,p.Pro354Ser,ENST00000401443,;P2RX6,missense_variant,p.Pro380Ser,ENST00000413302,;P2RX6,missense_variant,p.Pro370Ser,ENST00000336296,;P2RX6,missense_variant,p.Pro327Ser,ENST00000443995,;P2RX6,3_prime_UTR_variant,,ENST00000402329,;SLC7A4,downstream_gene_variant,,ENST00000403586,;SLC7A4,downstream_gene_variant,,ENST00000382932,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6,3_prime_UTR_variant,,ENST00000442475,;P2RX6,3_prime_UTR_variant,,ENST00000432930,;P2RX6,3_prime_UTR_variant,,ENST00000422210,;P2RX6,non_coding_transcript_exon_variant,,ENST00000487342,;P2RX6,downstream_gene_variant,,ENST00000452228,;	1286	65	54	SUCCESS
MAPK1	5594	.	GRCh37	22	22160192	22160192	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	45	148	0	ENST00000215832.6:c.439C>T	p.His147Tyr	p.H147Y	ENST00000215832	NM_002745.4	147	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS13795.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTGCAGAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF161,PROSITE_patterns:PS01351,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000215832	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000215832	Transcript	.	.	ENSG00000100030	6871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MK01_HUMAN	MAPK1	HGNC	Q1HBJ4_HUMAN,B4DHN0_HUMAN	.	UPI000000104F	SNV	MAPK1,missense_variant,p.His147Tyr,ENST00000398822,;MAPK1,missense_variant,p.His147Tyr,ENST00000544786,;MAPK1,missense_variant,p.His147Tyr,ENST00000215832,;	628	148	129	SUCCESS
LRP1B	53353	.	GRCh37	2	141660519	141660519	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778648870	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	114	1	ENST00000389484.3:c.3736G>T	p.Asp1246Tyr	p.D1246Y	ENST00000389484	NM_018557.2	1246	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2182.1	3736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATCCAGCT	NONE	byFrequency	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000374135	.	23/91	.	.	.	.	.	.	.	.	rs778648870,COSM1691116	23/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.861)	.	.	0,1	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Asp1246Tyr,ENST00000389484,;LRP1B,missense_variant,p.Asp391Tyr,ENST00000434794,;AC010740.1,downstream_gene_variant,,ENST00000417035,;	4708	115	112	SUCCESS
CACNB4	785	.	GRCh37	2	152695776	152695776	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	72	167	0	ENST00000539935.1:c.1420T>A	p.Leu474Met	p.L474M	ENST00000539935	NM_001145798.1	474	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS46426.1	1420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAAGCGGT	NONE	.	.	hmmpanther:PTHR11824:SF7,hmmpanther:PTHR11824,Low_complexity_(Seg):seg	.	.	ENSP00000438949	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000539935	Transcript	.	.	ENSG00000182389	1404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.23)	.	CACB4_HUMAN	CACNB4	HGNC	Q9NZA2_HUMAN,Q580I4_HUMAN,Q53S65_HUMAN	.	UPI0000208F1E	SNV	CACNB4,missense_variant,p.Leu440Met,ENST00000534999,;CACNB4,missense_variant,p.Leu456Met,ENST00000427385,;CACNB4,missense_variant,p.Leu427Met,ENST00000397327,;CACNB4,missense_variant,p.Leu441Met,ENST00000360283,;CACNB4,missense_variant,p.Leu412Met,ENST00000201943,;CACNB4,missense_variant,p.Leu474Met,ENST00000539935,;CACNB4,missense_variant,p.Leu469Met,ENST00000439467,;	1488	167	172	SUCCESS
RFTN2	130132	.	GRCh37	2	198436936	198436936	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	58	155	0	ENST00000295049.4:c.1302C>A	p.Asp434Glu	p.D434E	ENST00000295049	NM_144629.2	434	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS2323.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTGTCTAA	NONE	.	.	hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250	.	.	ENSP00000295049	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000295049	Transcript	.	.	ENSG00000162944	26402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	tolerated(0.06)	.	RFTN2_HUMAN	RFTN2	HGNC	C9J6C2_HUMAN	.	UPI000013E1F9	SNV	RFTN2,missense_variant,p.Asp126Glu,ENST00000454447,;RFTN2,missense_variant,p.Asp434Glu,ENST00000295049,;RFTN2,non_coding_transcript_exon_variant,,ENST00000494346,;	1839	155	160	SUCCESS
ANKMY1	51281	.	GRCh37	2	241463777	241463777	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	61	0	ENST00000272972.3:c.1090G>A	p.Val364Ile	p.V364I	ENST00000272972	NM_016552.2	364	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS2536.1	1090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACAACTG	NONE	.	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897	.	.	ENSP00000375847	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.3)	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,missense_variant,p.Val223Ile,ENST00000405523,;ANKMY1,missense_variant,p.Val364Ile,ENST00000391987,;ANKMY1,missense_variant,p.Val223Ile,ENST00000361678,;ANKMY1,missense_variant,p.Val134Ile,ENST00000405002,;ANKMY1,missense_variant,p.Val134Ile,ENST00000373320,;ANKMY1,missense_variant,p.Val302Ile,ENST00000403283,;ANKMY1,missense_variant,p.Val453Ile,ENST00000401804,;ANKMY1,missense_variant,p.Val364Ile,ENST00000272972,;ANKMY1,missense_variant,p.Val176Ile,ENST00000536462,;ANKMY1,missense_variant,p.Val223Ile,ENST00000373318,;ANKMY1,missense_variant,p.Val223Ile,ENST00000406958,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000418708,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;	1457	61	54	SUCCESS
SPTBN1	6711	.	GRCh37	2	54853192	54853192	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1467998194	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	124	0	ENST00000356805.4:c.1465G>A	p.Glu489Lys	p.E489K	ENST00000356805	NM_003128.2	489	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33198.1	1465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGAGGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	12/36	.	.	.	.	.	.	.	.	.	12/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.54)	.	deleterious(0.02)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Glu476Lys,ENST00000333896,;SPTBN1,missense_variant,p.Glu489Lys,ENST00000356805,;SPTBN1,missense_variant,p.Glu489Lys,ENST00000389980,;	1746	124	100	SUCCESS
CHMP3	51652	.	GRCh37	2	86790593	86790593	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	12	0	ENST00000263856.4:c.-122G>A		p.*41*	ENST00000263856	NM_001193517.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56128.1	.	MUTECT|MUSE	.	GGGAGCGGCGG	NONE	.	.	.	.	.	ENSP00000405575	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439940	Transcript	.	.	ENSG00000115561	29865	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHMP3_HUMAN	CHMP3	HGNC	.	.	UPI00017A6DE0	SNV	CHMP3,5_prime_UTR_variant,,ENST00000409225,;CHMP3,5_prime_UTR_variant,,ENST00000263856,;RNF103-CHMP3,intron_variant,,ENST00000440757,;CHMP3,intron_variant,,ENST00000439940,;RNF103-CHMP3,intron_variant,,ENST00000604011,;CHMP3,upstream_gene_variant,,ENST00000409727,;AC015971.2,intron_variant,,ENST00000439077,;AC015971.2,intron_variant,,ENST00000597638,;CHMP3,upstream_gene_variant,,ENST00000393773,;CHMP3,upstream_gene_variant,,ENST00000485465,;CHMP3,upstream_gene_variant,,ENST00000486404,;	.	12	13	SUCCESS
IGKV2-28	28921	.	GRCh37	2	89521327	89521327	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	51	226	0	ENST00000482769.1:c.212T>C	p.Leu71Pro	p.L71P	ENST00000482769		71	cTc/cCc	0	.	.	.	.	.	G	L/P	IG_V_gene	YES	.	212	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAGCTGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF155,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000419353	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482769	Transcript	.	.	ENSG00000244116	5783	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.261)	.	deleterious(0.03)	.	.	IGKV2-28	HGNC	.	.	UPI00005FFCB1	SNV	IGKV2-28,missense_variant,p.Leu71Pro,ENST00000482769,;	242	227	208	SUCCESS
ZPLD1	131368	.	GRCh37	3	102157387	102157387	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1222159125	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	57	117	1	ENST00000466937.1:c.56C>T	p.Ala19Val	p.A19V	ENST00000466937		19	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2947.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGCTCAGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962	.	.	ENSP00000307801	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000306176	Transcript	.	.	ENSG00000170044	27022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0.02)	.	ZPLD1_HUMAN	ZPLD1	HGNC	.	.	UPI000006EC89	SNV	ZPLD1,missense_variant,p.Ala19Val,ENST00000466937,;ZPLD1,missense_variant,p.Ala35Val,ENST00000306176,;ZPLD1,missense_variant,p.Ala19Val,ENST00000491959,;	204	118	172	SUCCESS
GRIP2	80852	.	GRCh37	3	14551403	14551403	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	23	0	ENST00000273083.3:n.2068T>C		p.*690*	ENST00000273083				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGATGCCC	NONE	.	.	.	.	.	.	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000273083	Transcript	.	.	ENSG00000144596	23841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GRIP2	HGNC	.	.	.	SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000430219,;GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;	2068	23	34	SUCCESS
SATB1	6304	.	GRCh37	3	18462375	18462375	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	91	130	0	ENST00000338745.6:c.85A>C	p.Lys29Gln	p.K29Q	ENST00000338745	NM_002971.4	29	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS56242.1	85	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTGGCTG	NONE	.	.	hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14	.	.	ENSP00000399518	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000417717	Transcript	.	.	ENSG00000182568	10541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SATB1_HUMAN	SATB1	HGNC	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN	.	UPI0000E1FB67	SNV	SATB1,missense_variant,p.Lys29Gln,ENST00000440737,;SATB1,missense_variant,p.Lys29Gln,ENST00000454909,;SATB1,missense_variant,p.Lys29Gln,ENST00000415069,;SATB1,missense_variant,p.Lys29Gln,ENST00000457005,;SATB1,missense_variant,p.Lys29Gln,ENST00000444341,;SATB1,missense_variant,p.Lys29Gln,ENST00000338745,;SATB1,missense_variant,p.Lys29Gln,ENST00000493952,;SATB1,missense_variant,p.Lys29Gln,ENST00000414509,;SATB1,missense_variant,p.Lys29Gln,ENST00000417717,;SATB1,missense_variant,p.Lys29Gln,ENST00000452260,;SATB1,downstream_gene_variant,,ENST00000450898,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,upstream_gene_variant,,ENST00000475083,;SATB1,non_coding_transcript_exon_variant,,ENST00000487699,;SATB1,upstream_gene_variant,,ENST00000491519,;SATB1,upstream_gene_variant,,ENST00000482788,;	1056	130	156	SUCCESS
MB21D2	151963	.	GRCh37	3	192516790	192516790	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	45	53	0	ENST00000392452.2:c.861G>A	p.Trp287Ter	p.W287*	ENST00000392452	NM_178496.3	287	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS3302.2	861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGCCATTC	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF43	.	.	ENSP00000376246	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392452	Transcript	.	.	ENSG00000180611	30438	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M21D2_HUMAN	MB21D2	HGNC	A8K332_HUMAN	.	UPI000013FAFE	SNV	MB21D2,stop_gained,p.Trp287Ter,ENST00000392452,;	1182	53	75	SUCCESS
LNX1	84708	.	GRCh37	4	54373548	54373548	+	synonymous_variant	Silent	SNP	C	C	G	rs756086455	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	106	0	ENST00000263925.7:c.711G>C	p.Gly237=	p.G237=	ENST00000263925	NM_001126328.2	237	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS47057.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTCCCGCT	NONE	byFrequency	.	hmmpanther:PTHR19964:SF14,hmmpanther:PTHR19964	.	.	ENSP00000263925	.	4/11	.	.	.	.	.	.	.	.	rs756086455,COSM312548	4/11	PASS	ENST00000263925	Transcript	.	.	ENSG00000072201	6657	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LNX1_HUMAN	LNX1	HGNC	D6RB76_HUMAN,D6RAH9_HUMAN	.	UPI000012E7A6	SNV	LNX1,synonymous_variant,p.%3D,ENST00000306888,;LNX1,synonymous_variant,p.%3D,ENST00000263925,;FIP1L1,intron_variant,,ENST00000507166,;LNX1-AS1,intron_variant,,ENST00000514364,;LNX1-AS1,intron_variant,,ENST00000511989,;LNX1-AS1,intron_variant,,ENST00000510785,;LNX1,non_coding_transcript_exon_variant,,ENST00000511398,;	1026	106	104	SUCCESS
TMPRSS11B	132724	.	GRCh37	4	69095161	69095161	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	62	188	1	ENST00000332644.5:c.760C>T	p.Gln254Ter	p.Q254*	ENST00000332644	NM_182502.3	254	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS3521.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGGACTT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000330475	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000332644	Transcript	.	.	ENSG00000185873	25398	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM11B_HUMAN	TMPRSS11B	HGNC	.	.	UPI000013E249	SNV	TMPRSS11B,stop_gained,p.Gln254Ter,ENST00000332644,;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000510856,;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;RP11-646E20.6,upstream_gene_variant,,ENST00000514295,;	922	189	197	SUCCESS
PPEF2	5470	.	GRCh37	4	76817508	76817508	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	77	0	ENST00000286719.7:c.-30T>A		p.*10*	ENST00000286719	NM_006239.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34013.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCAGCAGA	NONE	.	.	.	.	.	ENSP00000286719	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,5_prime_UTR_variant,,ENST00000286719,;PPEF2,non_coding_transcript_exon_variant,,ENST00000510607,;PPEF2,5_prime_UTR_variant,,ENST00000511880,;	328	77	79	SUCCESS
MRPL1	65008	.	GRCh37	4	78806454	78806454	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	51	124	0	ENST00000315567.8:c.447A>G	p.Pro149=	p.P149=	ENST00000315567	NM_020236.3	149	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3583.2	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCATTTGC	NONE	.	.	TIGRFAM_domain:TIGR01170,Gene3D:3.30.190.20,Pfam_domain:PF13003,Superfamily_domains:SSF56808	.	.	ENSP00000315017	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000315567	Transcript	.	.	ENSG00000169288	14275	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM01_HUMAN	MRPL1	HGNC	.	.	UPI000020B07E	SNV	MRPL1,synonymous_variant,p.%3D,ENST00000502384,;MRPL1,synonymous_variant,p.%3D,ENST00000315567,;MRPL1,non_coding_transcript_exon_variant,,ENST00000511521,;MRPL1,non_coding_transcript_exon_variant,,ENST00000506674,;MRPL1,downstream_gene_variant,,ENST00000515625,;	776	124	120	SUCCESS
SKP1	6500	.	GRCh37	5	133494206	133494206	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	42	102	0	ENST00000353411.6:c.396T>G	p.Pro132=	p.P132=	ENST00000353411	NM_170679.2	132	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4171.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAGGAGT	NONE	.	.	hmmpanther:PTHR11165,Pfam_domain:PF01466,Gene3D:3.30.710.10,PIRSF_domain:PIRSF028729,Superfamily_domains:SSF81382	.	.	ENSP00000231487	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000353411	Transcript	.	.	ENSG00000113558	10899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKP1_HUMAN	SKP1	HGNC	E7ERH2_HUMAN,E5RGM3_HUMAN	.	UPI00000002C9	SNV	SKP1,synonymous_variant,p.%3D,ENST00000522552,;SKP1,synonymous_variant,p.%3D,ENST00000519321,;SKP1,synonymous_variant,p.%3D,ENST00000353411,;SKP1,synonymous_variant,p.%3D,ENST00000517625,;SKP1,synonymous_variant,p.%3D,ENST00000522855,;SKP1,synonymous_variant,p.%3D,ENST00000521216,;SKP1,synonymous_variant,p.%3D,ENST00000328392,;SKP1,downstream_gene_variant,,ENST00000520417,;SKP1,3_prime_UTR_variant,,ENST00000523966,;SKP1,3_prime_UTR_variant,,ENST00000519054,;SKP1,non_coding_transcript_exon_variant,,ENST00000517691,;	580	102	121	SUCCESS
TMEM173	0	.	GRCh37	5	138856001	138856001	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748947114	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	30	0	ENST00000330794.4:c.985G>T	p.Val329Phe	p.V329F	ENST00000330794	NM_198282.2	329	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS4215.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACCTCCT	NONE	.	.	Pfam_domain:PF15009	.	.	ENSP00000331288	.	8/8	.	.	.	.	.	.	.	.	rs748947114	8/8	PASS	ENST00000330794	Transcript	.	.	ENSG00000184584	27962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	STING_HUMAN	TMEM173	HGNC	J3QTB1_HUMAN	.	UPI000000DC5E	SNV	TMEM173,missense_variant,p.Val329Phe,ENST00000330794,;AC138517.1,downstream_gene_variant,,ENST00000593907,;TMEM173,downstream_gene_variant,,ENST00000510817,;TMEM173,non_coding_transcript_exon_variant,,ENST00000512606,;TMEM173,downstream_gene_variant,,ENST00000511886,;TMEM173,downstream_gene_variant,,ENST00000515507,;TMEM173,downstream_gene_variant,,ENST00000511850,;TMEM173,non_coding_transcript_exon_variant,,ENST00000509573,;TMEM173,non_coding_transcript_exon_variant,,ENST00000507297,;TMEM173,non_coding_transcript_exon_variant,,ENST00000503287,;TMEM173,downstream_gene_variant,,ENST00000503838,;TMEM173,downstream_gene_variant,,ENST00000514119,;TMEM173,downstream_gene_variant,,ENST00000502825,;TMEM173,downstream_gene_variant,,ENST00000502362,;	1319	30	62	SUCCESS
SH3RF2	153769	.	GRCh37	5	145317471	145317471	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	25	0	ENST00000359120.4:c.-21G>T		p.*7*	ENST00000359120	NM_152550.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4280.1	.	MUTECT|MUSE	.	GGTGGGAACTG	NONE	.	.	.	.	.	ENSP00000424497	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000511217	Transcript	.	.	ENSG00000156463	26299	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SH3R2_HUMAN	SH3RF2	HGNC	.	.	UPI0000457366	SNV	SH3RF2,5_prime_UTR_variant,,ENST00000359120,;SH3RF2,5_prime_UTR_variant,,ENST00000511217,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000506591,;	32	25	23	SUCCESS
PPP2R2B	5521	.	GRCh37	5	146077624	146077624	+	synonymous_variant	Silent	SNP	C	C	T	rs200884068	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	71	162	1	ENST00000394409.3:c.426G>A	p.Lys142=	p.K142=	ENST00000394409		142	aaG/aaA	0	T:0	.	.	.	.	T	K	protein_coding	YES	CCDS4283.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTCTTCAG	NONE	byCluster	.	hmmpanther:PTHR11871:SF1,hmmpanther:PTHR11871,PROSITE_patterns:PS01024,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF037309,Superfamily_domains:SSF50978,Prints_domain:PR00600	.	T:0.0001	ENSP00000336591	.	3/9	.	.	.	.	.	.	.	.	rs200884068	3/9	PASS	ENST00000336640	Transcript	1	.	ENSG00000156475	9305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2ABB_HUMAN	PPP2R2B	HGNC	.	.	UPI0000026156	SNV	PPP2R2B,synonymous_variant,p.%3D,ENST00000394414,;PPP2R2B,synonymous_variant,p.%3D,ENST00000504198,;PPP2R2B,synonymous_variant,p.%3D,ENST00000394411,;PPP2R2B,synonymous_variant,p.%3D,ENST00000356826,;PPP2R2B,synonymous_variant,p.%3D,ENST00000508545,;PPP2R2B,synonymous_variant,p.%3D,ENST00000453001,;PPP2R2B,synonymous_variant,p.%3D,ENST00000394409,;PPP2R2B,synonymous_variant,p.%3D,ENST00000394410,;PPP2R2B,synonymous_variant,p.%3D,ENST00000394413,;PPP2R2B,synonymous_variant,p.%3D,ENST00000336640,;PPP2R2B,downstream_gene_variant,,ENST00000508267,;PPP2R2B,non_coding_transcript_exon_variant,,ENST00000502876,;PPP2R2B,non_coding_transcript_exon_variant,,ENST00000530902,;PPP2R2B,downstream_gene_variant,,ENST00000509721,;PPP2R2B,3_prime_UTR_variant,,ENST00000528601,;PPP2R2B,3_prime_UTR_variant,,ENST00000532154,;PPP2R2B,3_prime_UTR_variant,,ENST00000512639,;PPP2R2B,3_prime_UTR_variant,,ENST00000515880,;PPP2R2B,3_prime_UTR_variant,,ENST00000512011,;PPP2R2B,intron_variant,,ENST00000522831,;PPP2R2B,downstream_gene_variant,,ENST00000504565,;	492	163	249	SUCCESS
ATP10B	23120	.	GRCh37	5	160033981	160033981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	158	180	0	ENST00000327245.5:c.2951C>A	p.Ser984Tyr	p.S984Y	ENST00000327245	NM_025153.2	984	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS43394.1	2951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGATGGT	NONE	.	.	Superfamily_domains:SSF56784,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0.01)	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,missense_variant,p.Ser984Tyr,ENST00000327245,;ATP10B,downstream_gene_variant,,ENST00000522169,;ATP10B,upstream_gene_variant,,ENST00000523758,;ATP10B,upstream_gene_variant,,ENST00000517815,;	3798	181	287	SUCCESS
CDH9	1007	.	GRCh37	5	26889956	26889956	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	93	0	ENST00000231021.4:c.1501A>G	p.Lys501Glu	p.K501E	ENST00000231021	NM_016279.3	501	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3893.1	1501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTTTGCAT	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	tolerated(0.06)	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Lys501Glu,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	1674	93	133	SUCCESS
VCAN	1462	.	GRCh37	5	82836955	82836955	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	87	0	ENST00000265077.3:c.8133T>A	p.Ala2711=	p.A2711=	ENST00000265077	NM_004385.4	2711	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4060.1	8133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTGAAGC	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,synonymous_variant,p.%3D,ENST00000265077,;VCAN,synonymous_variant,p.%3D,ENST00000343200,;VCAN,intron_variant,,ENST00000342785,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000512590,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	8698	87	91	SUCCESS
FIG4	9896	.	GRCh37	6	110059526	110059526	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	52	114	0	ENST00000230124.3:c.647-2A>G		p.X216_splice	ENST00000230124	NM_014845.5	216		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5078.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGGGGT	NONE	.	.	.	.	.	ENSP00000230124	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	HIGH	6/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,splice_acceptor_variant,,ENST00000454215,;FIG4,splice_acceptor_variant,,ENST00000230124,;FIG4,intron_variant,,ENST00000441478,;FIG4,intron_variant,,ENST00000368941,;	.	114	86	SUCCESS
GMNN	51053	.	GRCh37	6	24785914	24785914	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	68	0	ENST00000230056.3:c.517G>C	p.Glu173Gln	p.E173Q	ENST00000230056	NM_015895.4	173	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4560.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGAATTT	NONE	.	.	hmmpanther:PTHR13372,hmmpanther:PTHR13372:SF4,Pfam_domain:PF07412	.	.	ENSP00000230056	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000230056	Transcript	.	.	ENSG00000112312	17493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	tolerated(0.13)	.	GEMI_HUMAN	GMNN	HGNC	H7C608_HUMAN,E2QRF9_HUMAN,C9K0U5_HUMAN	.	UPI000012B3BB	SNV	GMNN,missense_variant,p.Glu173Gln,ENST00000356509,;GMNN,missense_variant,p.Glu173Gln,ENST00000378054,;GMNN,missense_variant,p.Glu173Gln,ENST00000230056,;GMNN,downstream_gene_variant,,ENST00000378059,;GMNN,downstream_gene_variant,,ENST00000476555,;	849	68	133	SUCCESS
OR12D2	26529	.	GRCh37	6	29364910	29364910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	60	155	0	ENST00000383555.2:c.434C>A	p.Thr145Lys	p.T145K	ENST00000383555	NM_013936.3	145	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS4659.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACAATCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF52,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000373047	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383555	Transcript	.	.	ENSG00000168787	8178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.392)	.	deleterious(0.02)	.	O12D2_HUMAN	OR12D2	HGNC	.	.	UPI00001406A8	SNV	OR12D2,missense_variant,p.Thr145Lys,ENST00000383555,;OR5V1,intron_variant,,ENST00000377154,;	495	155	222	SUCCESS
HSPA1L	3305	.	GRCh37	6	31778524	31778524	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	37	94	0	ENST00000375654.4:c.1226G>A	p.Gly409Glu	p.G409E	ENST00000375654	NM_005527.3	409	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS34413.1	1226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCCAGCC	NONE	.	.	Prints_domain:PR00301,Superfamily_domains:SSF100920,Pfam_domain:PF00012,Gene3D:2.60.34.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,missense_variant,p.Gly409Glu,ENST00000417199,;HSPA1L,missense_variant,p.Gly409Glu,ENST00000375654,;HSPA1A,upstream_gene_variant,,ENST00000458062,;HSPA1A,upstream_gene_variant,,ENST00000375651,;LSM2,upstream_gene_variant,,ENST00000375661,;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	1416	94	138	SUCCESS
IP6K3	117283	.	GRCh37	6	33690707	33690707	+	synonymous_variant	Silent	SNP	G	G	A	rs1175116858	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	40	103	0	ENST00000293756.4:c.1023C>T	p.Gly341=	p.G341=	ENST00000293756	NM_054111.4	341	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34435.1	1023	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGCCTGG	NONE	.	.	hmmpanther:PTHR12400:SF40,hmmpanther:PTHR12400,Pfam_domain:PF03770	.	.	ENSP00000398861	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000451316	Transcript	.	.	ENSG00000161896	17269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K3_HUMAN	IP6K3	HGNC	Q5TAQ4_HUMAN	.	UPI000013E117	SNV	IP6K3,synonymous_variant,p.%3D,ENST00000451316,;IP6K3,synonymous_variant,p.%3D,ENST00000293756,;	1559	103	157	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113519285	113519285	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	157	263	0	ENST00000284601.3:c.1862G>A	p.Arg621Lys	p.R621K	ENST00000284601	NM_002711.3	621	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS5759.1	1862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTCTTGAT	NONE	.	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	COSM2149488,COSM3411487	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.01)	.	tolerated(0.17)	1,1	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,missense_variant,p.Arg621Lys,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	1931	263	300	SUCCESS
WNT2	7472	.	GRCh37	7	116955172	116955172	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	246	88	186	0	ENST00000265441.3:c.541G>A	p.Asp181Asn	p.D181N	ENST00000265441	NM_003391.2	181	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5771.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCCTTTC	NONE	.	.	hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01842	.	.	ENSP00000265441	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000265441	Transcript	.	.	ENSG00000105989	12780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	WNT2_HUMAN	WNT2	HGNC	A4D0V1_HUMAN	.	UPI0000051044	SNV	WNT2,missense_variant,p.Asp181Asn,ENST00000265441,;WNT2,intron_variant,,ENST00000491214,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,3_prime_UTR_variant,,ENST00000449446,;	841	186	334	SUCCESS
KCNH2	3757	.	GRCh37	7	150644109	150644109	+	synonymous_variant	Silent	SNP	A	A	T	rs774112063	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	43	92	0	ENST00000262186.5:c.3186T>A	p.Thr1062=	p.T1062=	ENST00000262186	NM_000238.3	1062	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5910.1	3186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGTGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217	.	.	ENSP00000262186	.	14/15	.	.	.	.	.	.	.	.	rs774112063	14/15	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,synonymous_variant,p.%3D,ENST00000262186,;KCNH2,synonymous_variant,p.%3D,ENST00000330883,;KCNH2,synonymous_variant,p.%3D,ENST00000392968,;KCNH2,downstream_gene_variant,,ENST00000430723,;KCNH2,downstream_gene_variant,,ENST00000532957,;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000461280,;	3588	92	154	SUCCESS
BMPER	168667	.	GRCh37	7	34118587	34118587	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	51	0	ENST00000297161.2:c.1197G>T	p.Ser399=	p.S399=	ENST00000297161	NM_133468.4	399	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5442.1	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGCCCTT	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000297161	.	13/16	.	.	.	.	.	.	.	.	COSM600869	13/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,synonymous_variant,p.%3D,ENST00000297161,;BMPER,synonymous_variant,p.%3D,ENST00000426693,;BMPER,intron_variant,,ENST00000476525,;	1571	51	64	SUCCESS
TYW1	55253	.	GRCh37	7	66463919	66463919	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs542889524	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	32	87	0	ENST00000359626.5:c.251G>T	p.Gly84Val	p.G84V	ENST00000359626	NM_018264.3	84	gGt/gTt	0	.	A:0.0008	.	A:0	.	T	G/V	protein_coding	YES	CCDS5538.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGGTTCTC	NONE	by1000G	.	PROSITE_profiles:PS50902,hmmpanther:PTHR13930:SF0,hmmpanther:PTHR13930,Pfam_domain:PF00258,Gene3D:3.40.50.360,Superfamily_domains:SSF52218,Prints_domain:PR00369	A:0	.	ENSP00000352645	A:0	3/16	.	.	.	.	.	.	.	.	rs542889524	3/16	PASS	ENST00000359626	Transcript	.	A:0.0002	ENSG00000198874	25598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	A:0	deleterious(0.03)	.	TYW1_HUMAN	TYW1	HGNC	B4DW16_HUMAN	.	UPI00003674A9	SNV	TYW1,missense_variant,p.Gly84Val,ENST00000442959,;TYW1,missense_variant,p.Gly84Val,ENST00000359626,;SBDS,upstream_gene_variant,,ENST00000246868,;TYW1,downstream_gene_variant,,ENST00000491969,;TYW1,missense_variant,p.Gly84Val,ENST00000361660,;TYW1,non_coding_transcript_exon_variant,,ENST00000475392,;SBDS,upstream_gene_variant,,ENST00000490953,;SBDS,upstream_gene_variant,,ENST00000414306,;SBDS,upstream_gene_variant,,ENST00000463579,;	415	87	124	SUCCESS
ANGPT1	284	.	GRCh37	8	108334350	108334350	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	42	126	0	ENST00000517746.1:c.582A>T	p.Leu194Phe	p.L194F	ENST00000517746	NM_001199859.1	194	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6306.1	582	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCTAATAA	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156	.	.	ENSP00000428340	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000517746	Transcript	.	.	ENSG00000154188	484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.626)	.	deleterious(0)	.	ANGP1_HUMAN	ANGPT1	HGNC	E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN	.	UPI0000034766	SNV	ANGPT1,missense_variant,p.Leu194Phe,ENST00000517746,;ANGPT1,missense_variant,p.Leu194Phe,ENST00000297450,;ANGPT1,5_prime_UTR_variant,,ENST00000520734,;ANGPT1,5_prime_UTR_variant,,ENST00000520052,;ANGPT1,upstream_gene_variant,,ENST00000518386,;ANGPT1,upstream_gene_variant,,ENST00000521950,;	1034	126	203	SUCCESS
FER1L6	654463	.	GRCh37	8	125072474	125072474	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	49	0	ENST00000399018.1:c.2928C>G	p.Thr976=	p.T976=	ENST00000399018		976	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS43767.1	2928	RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCCAGAT	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	23/41	.	.	.	.	.	.	.	.	COSM3644907	23/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,synonymous_variant,p.%3D,ENST00000522917,;FER1L6,synonymous_variant,p.%3D,ENST00000399018,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000601180,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000520031,;	3134	49	68	SUCCESS
PI15	51050	.	GRCh37	8	75761417	75761417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	61	184	0	ENST00000260113.2:c.706T>A	p.Tyr236Asn	p.Y236N	ENST00000260113	NM_015886.3	236	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS6218.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTTATGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF63,Gene3D:3.40.33.10	.	.	ENSP00000260113	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000260113	Transcript	.	.	ENSG00000137558	8946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PI15_HUMAN	PI15	HGNC	.	.	UPI00000422F7	SNV	PI15,missense_variant,p.Tyr236Asn,ENST00000523773,;PI15,missense_variant,p.Tyr236Asn,ENST00000260113,;RP11-758M4.4,intron_variant,,ENST00000522914,;RP11-758M4.4,intron_variant,,ENST00000518128,;RP11-758M4.4,intron_variant,,ENST00000523860,;	885	184	246	SUCCESS
ZNF618	114991	.	GRCh37	9	116731402	116731402	+	synonymous_variant	Silent	SNP	C	C	T	rs754153795	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	14	26	0	ENST00000374126.5:c.39C>T	p.Asp13=	p.D13=	ENST00000374126		13	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS48008.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACGGAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000288466	.	2/14	.	.	.	.	.	.	.	.	rs754153795	2/14	PASS	ENST00000288466	Transcript	.	.	ENSG00000157657	29416	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN618_HUMAN	ZNF618	HGNC	.	.	UPI0000D4BD81	SNV	ZNF618,synonymous_variant,p.%3D,ENST00000452710,;ZNF618,synonymous_variant,p.%3D,ENST00000288466,;ZNF618,synonymous_variant,p.%3D,ENST00000374124,;ZNF618,synonymous_variant,p.%3D,ENST00000374126,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;	138	26	17	SUCCESS
TSC1	7248	.	GRCh37	9	135786464	135786464	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	71	0	ENST00000298552.3:c.1066del	p.Thr356ProfsTer84	p.T356Pfs*84	ENST00000298552	NM_001162426.1	356	Acc/cc	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS6956.1	1066	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGTGGTCATAC	NONE	.	.	hmmpanther:PTHR15154,Pfam_domain:PF04388	.	.	ENSP00000298552	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	deletion	TSC1,frameshift_variant,p.Thr356ProfsTer84,ENST00000298552,;TSC1,frameshift_variant,p.Thr305ProfsTer84,ENST00000545250,;TSC1,frameshift_variant,p.Thr356ProfsTer84,ENST00000440111,;TSC1,downstream_gene_variant,,ENST00000403810,;TSC1,non_coding_transcript_exon_variant,,ENST00000493467,;	1288	71	70	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18777712	18777712	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767012703	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	12	64	0	ENST00000380548.4:c.3485G>A	p.Arg1162His	p.R1162H	ENST00000380548	NM_001040272.5	1162	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47954.1	3485	RADIA|MUTECT|MUSE|VARSCANS	.	ACACCGCAAGC	NONE	.	.	hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	.	.	ENSP00000369921	.	19/29	.	.	.	.	.	.	.	.	rs767012703,COSM1283286	19/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.792)	.	deleterious(0)	0,1	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Arg1162His,ENST00000380548,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	3824	64	88	SUCCESS
GLIS3	169792	.	GRCh37	9	3898836	3898836	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	74	0	ENST00000324333.10:c.1519-1G>C		p.X507_splice	ENST00000324333	NM_152629.3	507		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43784.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAACTAAGA	NONE	.	.	.	.	.	ENSP00000371398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381971	Transcript	.	.	ENSG00000107249	28510	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLIS3_HUMAN	GLIS3	HGNC	Q1PHK4_HUMAN,Q1PHJ8_HUMAN,Q1PHJ7_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN	.	UPI0000DA4C5E	SNV	GLIS3,splice_acceptor_variant,,ENST00000381971,;GLIS3,splice_acceptor_variant,,ENST00000324333,;GLIS3-AS1,non_coding_transcript_exon_variant,,ENST00000451340,;GLIS3,splice_acceptor_variant,,ENST00000461870,;GLIS3,splice_acceptor_variant,,ENST00000467497,;GLIS3,splice_acceptor_variant,,ENST00000463680,;	.	74	88	SUCCESS
CTSL	1514	.	GRCh37	9	90342998	90342998	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	50	1	ENST00000340342.6:c.183G>A	p.Leu61=	p.L61=	ENST00000340342	NM_001257971.1	61	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6675.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGCACAA	NONE	.	.	Superfamily_domains:SSF54001,SMART_domains:SM00848,Gene3D:3.90.70.10,Pfam_domain:PF08246,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF306	.	.	ENSP00000345344	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000343150	Transcript	.	.	ENSG00000135047	2537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATL1_HUMAN	CTSL	HGNC	Q9HBQ7_HUMAN,Q8NG13_HUMAN,Q5K630_HUMAN	.	UPI000004CAA2	SNV	CTSL,synonymous_variant,p.%3D,ENST00000342020,;CTSL,synonymous_variant,p.%3D,ENST00000340342,;CTSL,synonymous_variant,p.%3D,ENST00000343150,;CTSL,non_coding_transcript_exon_variant,,ENST00000482054,;CTSL,non_coding_transcript_exon_variant,,ENST00000375894,;CTSL,intron_variant,,ENST00000495822,;	1073	51	28	SUCCESS
RGAG1	0	.	GRCh37	X	109695878	109695878	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	36	74	0	ENST00000465301.2:c.2033C>T	p.Ala678Val	p.A678V	ENST00000465301	NM_020769.2	678	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14552.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCAATGT	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.37)	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,missense_variant,p.Ala678Val,ENST00000540313,;RGAG1,missense_variant,p.Ala678Val,ENST00000465301,;RGAG1,downstream_gene_variant,,ENST00000520821,;	2279	74	45	SUCCESS
ARHGAP36	158763	.	GRCh37	X	130219933	130219933	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	57	77	0	ENST00000276211.5:c.1151G>T	p.Gly384Val	p.G384V	ENST00000276211	NM_144967.3	384	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS14628.1	1151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGGATCTG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR12635:SF5,hmmpanther:PTHR12635,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000276211	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000276211	Transcript	.	.	ENSG00000147256	26388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RHG36_HUMAN	ARHGAP36	HGNC	.	.	UPI0000041347	SNV	ARHGAP36,missense_variant,p.Gly384Val,ENST00000276211,;ARHGAP36,missense_variant,p.Gly372Val,ENST00000370922,;ARHGAP36,missense_variant,p.Gly353Val,ENST00000412432,;ARHGAP36,missense_variant,p.Gly248Val,ENST00000370921,;ARHGAP36,downstream_gene_variant,,ENST00000423277,;	1496	77	75	SUCCESS
MAP7D3	79649	.	GRCh37	X	135318411	135318411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	33	0	ENST00000316077.9:c.728A>G	p.Lys243Arg	p.K243R	ENST00000316077	NM_024597.3	243	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS44004.1	728	RADIA|MUSE|VARSCANS	.	GTGGCTTCCTT	NONE	.	.	hmmpanther:PTHR15073:SF5,hmmpanther:PTHR15073	.	.	ENSP00000318086	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000316077	Transcript	.	.	ENSG00000129680	25742	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.149)	.	tolerated(0.1)	.	MA7D3_HUMAN	MAP7D3	HGNC	.	.	UPI00001C207C	SNV	MAP7D3,missense_variant,p.Lys225Arg,ENST00000370663,;MAP7D3,missense_variant,p.Lys208Arg,ENST00000370661,;MAP7D3,missense_variant,p.Lys243Arg,ENST00000370660,;MAP7D3,missense_variant,p.Lys243Arg,ENST00000316077,;	949	33	39	SUCCESS
RPL10	6134	.	GRCh37	X	153628235	153628235	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	91	110	2	ENST00000344746.4:c.282C>A	p.Phe94Leu	p.F94L	ENST00000344746		94	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS14746.1	282	RADIA|SOMATICSNIPER|VARSCANS	.	CCCTTCCACGT	NONE	.	.	hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF9,Pfam_domain:PF00252,Gene3D:3.90.1170.10,TIGRFAM_domain:TIGR00279,PIRSF_domain:PIRSF005590,Superfamily_domains:SSF54686	.	.	ENSP00000413436	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000424325	Transcript	.	.	ENSG00000147403	10298	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.147)	.	deleterious(0.03)	.	RL10_HUMAN	RPL10	HGNC	F8W7C6_HUMAN	.	UPI00000019F3	SNV	RPL10,missense_variant,p.Phe94Leu,ENST00000344746,;RPL10,missense_variant,p.Phe4Leu,ENST00000428169,;RPL10,missense_variant,p.Phe43Leu,ENST00000406022,;RPL10,missense_variant,p.Phe4Leu,ENST00000449494,;RPL10,missense_variant,p.Phe94Leu,ENST00000436473,;RPL10,missense_variant,p.Phe4Leu,ENST00000427682,;RPL10,missense_variant,p.Phe94Leu,ENST00000369817,;RPL10,missense_variant,p.Phe94Leu,ENST00000458500,;RPL10,missense_variant,p.Phe77Leu,ENST00000451365,;RPL10,missense_variant,p.Phe94Leu,ENST00000424325,;DNASE1L1,downstream_gene_variant,,ENST00000369808,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000309585,;DNASE1L1,downstream_gene_variant,,ENST00000369809,;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000369807,;DNASE1L1,downstream_gene_variant,,ENST00000393638,;SNORA70,upstream_gene_variant,,ENST00000384436,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000485196,;RPL10,non_coding_transcript_exon_variant,,ENST00000474786,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;DNASE1L1,downstream_gene_variant,,ENST00000497242,;	470	112	111	SUCCESS
MPP1	4354	.	GRCh37	X	154007594	154007594	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	32	40	0	ENST00000369534.3:c.1259A>G	p.Glu420Gly	p.E420G	ENST00000369534	NM_001166461.1	420	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS14762.1	1259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCAGAG	NONE	.	.	PROSITE_profiles:PS50052,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,Gene3D:3.40.50.300,Pfam_domain:PF00625,SMART_domains:SM00072,Superfamily_domains:SSF52540	.	.	ENSP00000358547	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369534	Transcript	.	.	ENSG00000130830	7219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.16)	.	EM55_HUMAN	MPP1	HGNC	A8MTH1_HUMAN	.	UPI0000129E86	SNV	MPP1,missense_variant,p.Glu400Gly,ENST00000393531,;MPP1,missense_variant,p.Glu390Gly,ENST00000413259,;MPP1,missense_variant,p.Glu420Gly,ENST00000369534,;DKC1,downstream_gene_variant,,ENST00000369550,;MPP1,downstream_gene_variant,,ENST00000393529,;MPP1,downstream_gene_variant,,ENST00000453245,;SNORA56,downstream_gene_variant,,ENST00000383966,;DKC1,downstream_gene_variant,,ENST00000492372,;DKC1,downstream_gene_variant,,ENST00000475966,;MPP1,downstream_gene_variant,,ENST00000462825,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,non_coding_transcript_exon_variant,,ENST00000482757,;MPP1,non_coding_transcript_exon_variant,,ENST00000491955,;DKC1,downstream_gene_variant,,ENST00000412124,;MPP1,downstream_gene_variant,,ENST00000493871,;MPP1,downstream_gene_variant,,ENST00000494170,;DKC1,downstream_gene_variant,,ENST00000481062,;DKC1,downstream_gene_variant,,ENST00000426673,;	1407	41	41	SUCCESS
MAP3K15	389840	.	GRCh37	X	19413202	19413202	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1459360829	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	20	26	1	ENST00000338883.4:c.2191G>A	p.Gly731Arg	p.G731R	ENST00000338883	NM_001001671.3	731	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	.	2191	SOMATICSNIPER|VARSCANS	.	ACCTCCAGGCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000345629	.	16/29	.	.	.	.	.	.	.	.	COSM182434,COSM182435	16/29	PASS	ENST00000338883	Transcript	.	.	ENSG00000180815	31689	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	M3K15_HUMAN	MAP3K15	HGNC	E7EWI5_HUMAN	.	UPI0000E444D0	SNV	MAP3K15,missense_variant,p.Gly563Arg,ENST00000469203,;MAP3K15,missense_variant,p.Gly166Arg,ENST00000359173,;MAP3K15,missense_variant,p.Gly731Arg,ENST00000338883,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	2191	27	23	SUCCESS
MAGEE1	57692	.	GRCh37	X	75649863	75649863	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	36	48	1	ENST00000361470.2:c.1540G>T	p.Glu514Ter	p.E514*	ENST00000361470	NM_020932.2	514	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14433.1	1540	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGGAGTCT	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736:SF9,hmmpanther:PTHR11736,PROSITE_profiles:PS50838	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	COSM488618,COSM488619	1/1	PASS	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,stop_gained,p.Glu514Ter,ENST00000361470,;	1818	49	48	SUCCESS
USP9Y	8287	.	GRCh37	Y	14968376	14968376	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	74	113	1	ENST00000338981.3:c.7176G>A	p.Met2392Ile	p.M2392I	ENST00000338981	NM_004654.3	2392	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS14781.1	7176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATGGTAGC	NONE	.	.	.	.	.	ENSP00000342812	.	43/46	.	.	.	.	.	.	.	.	.	43/46	PASS	ENST00000338981	Transcript	1	.	ENSG00000114374	12633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	tolerated(0.09)	.	USP9Y_HUMAN	USP9Y	HGNC	.	.	UPI00001AE67D	SNV	USP9Y,missense_variant,p.Met74Ile,ENST00000453031,;USP9Y,missense_variant,p.Met2392Ile,ENST00000338981,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,;USP9Y,upstream_gene_variant,,ENST00000471409,;	8121	114	91	SUCCESS
USP9Y	8287	.	GRCh37	Y	14968377	14968377	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	73	114	0	ENST00000338981.3:c.7177G>T	p.Val2393Leu	p.V2393L	ENST00000338981	NM_004654.3	2393	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS14781.1	7177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGGTAGCT	NONE	.	.	.	.	.	ENSP00000342812	.	43/46	.	.	.	.	.	.	.	.	.	43/46	PASS	ENST00000338981	Transcript	1	.	ENSG00000114374	12633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	USP9Y_HUMAN	USP9Y	HGNC	.	.	UPI00001AE67D	SNV	USP9Y,missense_variant,p.Val75Leu,ENST00000453031,;USP9Y,missense_variant,p.Val2393Leu,ENST00000338981,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,;USP9Y,upstream_gene_variant,,ENST00000471409,;	8122	114	90	SUCCESS
ELOVL3	83401	.	GRCh37	10	103988605	103988605	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150611171	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	111	1	ENST00000370005.3:c.409C>T	p.Arg137Cys	p.R137C	ENST00000370005	NM_152310.1	137	Cgt/Tgt	0	T:0.0005	T:0	.	T:0	.	T	R/C	protein_coding	YES	CCDS7531.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCGTAAG	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01151,hmmpanther:PTHR11157:SF40,hmmpanther:PTHR11157	T:0	T:0.0006	ENSP00000359022	T:0.003	4/4	.	.	.	.	.	.	.	.	rs150611171	4/4	PASS	ENST00000370005	Transcript	.	T:0.0006	ENSG00000119915	18047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	T:0	deleterious(0.01)	.	ELOV3_HUMAN	ELOVL3	HGNC	.	.	UPI000004CAF5	SNV	ELOVL3,missense_variant,p.Arg137Cys,ENST00000370005,;PITX3,downstream_gene_variant,,ENST00000539804,;PITX3,downstream_gene_variant,,ENST00000370002,;	630	112	89	SUCCESS
CRY1	1407	.	GRCh37	12	107486610	107486610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	75	0	ENST00000008527.5:c.130T>C	p.Ser44Pro	p.S44P	ENST00000008527	NM_004075.4	44	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS9112.1	130	MUTECT|MUSE	.	GGAGGAGCCGG	NONE	.	.	Superfamily_domains:SSF52425,Pfam_domain:PF00875,Gene3D:3.40.50.620,hmmpanther:PTHR11455:SF16,hmmpanther:PTHR11455,PROSITE_profiles:PS51645	.	.	ENSP00000008527	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000008527	Transcript	.	.	ENSG00000008405	2384	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.799)	.	tolerated(0.06)	.	CRY1_HUMAN	CRY1	HGNC	H0YHT0_HUMAN,A2I2P0_HUMAN	.	UPI0000073E80	SNV	CRY1,missense_variant,p.Ser44Pro,ENST00000008527,;RP11-797M17.1,upstream_gene_variant,,ENST00000547679,;CRY1,non_coding_transcript_exon_variant,,ENST00000550633,;	998	75	69	SUCCESS
DHX37	57647	.	GRCh37	12	125455935	125455935	+	synonymous_variant	Silent	SNP	C	C	G	rs1340857054	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	40	0	ENST00000308736.2:c.1104G>C	p.Val368=	p.V368=	ENST00000308736	NM_032656.3	368	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS9261.1	1104	RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCACCTT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000311135	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,synonymous_variant,p.%3D,ENST00000308736,;DHX37,synonymous_variant,p.%3D,ENST00000544745,;DHX37,upstream_gene_variant,,ENST00000543962,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	1203	40	33	SUCCESS
KRT83	3889	.	GRCh37	12	52712959	52712959	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	134	0	ENST00000293670.3:c.574C>A	p.Leu192Met	p.L192M	ENST00000293670	NM_002282.3	192	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS8823.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGCACCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038,Prints_domain:PR01276	.	.	ENSP00000293670	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000293670	Transcript	.	.	ENSG00000170523	6460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	tolerated(0.12)	.	KRT83_HUMAN	KRT83	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000070AF2	SNV	KRT83,missense_variant,p.Leu192Met,ENST00000293670,;AC121757.1,downstream_gene_variant,,ENST00000594763,;	637	134	109	SUCCESS
PAN2	9924	.	GRCh37	12	56720646	56720646	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	30	0	ENST00000425394.2:c.1017A>G	p.Ser339=	p.S339=	ENST00000425394	NM_001127460.2	339	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS44922.1	1017	RADIA|VARSCANS	.	CTGGCTGACAC	NONE	.	.	hmmpanther:PTHR15728,hmmpanther:PTHR15728:SF0,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000401721	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000425394	Transcript	.	.	ENSG00000135473	20074	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAN2_HUMAN	PAN2	HGNC	F8VXK8_HUMAN	.	UPI0000577D0A	SNV	PAN2,synonymous_variant,p.%3D,ENST00000425394,;PAN2,synonymous_variant,p.%3D,ENST00000440411,;PAN2,synonymous_variant,p.%3D,ENST00000257931,;PAN2,synonymous_variant,p.%3D,ENST00000548043,;PAN2,downstream_gene_variant,,ENST00000547572,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547994,;PAN2,upstream_gene_variant,,ENST00000550555,;PAN2,upstream_gene_variant,,ENST00000547226,;PAN2,upstream_gene_variant,,ENST00000548982,;PAN2,upstream_gene_variant,,ENST00000552630,;PAN2,upstream_gene_variant,,ENST00000552868,;PAN2,upstream_gene_variant,,ENST00000549073,;PAN2,upstream_gene_variant,,ENST00000550028,;PAN2,upstream_gene_variant,,ENST00000549348,;PAN2,downstream_gene_variant,,ENST00000547518,;	1394	30	36	SUCCESS
PTPRQ	374462	.	GRCh37	12	80862537	80862537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	93	0	ENST00000266688.5:c.947A>T	p.Lys316Met	p.K316M	ENST00000266688		316	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	.	947	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAAGTCCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	12/50	.	.	.	.	.	.	.	.	.	12/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.873)	.	deleterious(0.01)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Lys316Met,ENST00000266688,;	947	93	116	SUCCESS
TM9SF2	9375	.	GRCh37	13	100206607	100206607	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773552636	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	22	160	0	ENST00000376387.4:c.1538A>G	p.Glu513Gly	p.E513G	ENST00000376387	NM_004800.2	513	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9493.1	1538	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAACAGT	NONE	.	.	hmmpanther:PTHR10766:SF36,hmmpanther:PTHR10766,Pfam_domain:PF02990	.	.	ENSP00000365567	.	14/17	.	.	.	.	.	.	.	.	rs773552636	14/17	PASS	ENST00000376387	Transcript	.	.	ENSG00000125304	11865	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.232)	.	deleterious(0.01)	.	TM9S2_HUMAN	TM9SF2	HGNC	.	.	UPI000013684D	SNV	TM9SF2,missense_variant,p.Glu513Gly,ENST00000376387,;	1728	160	132	SUCCESS
THSD1	55901	.	GRCh37	13	52972291	52972300	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGCTCTCT	CTGGCTCTCT	-	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	CTGGCTCTCT	CTGGCTCTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	68	0	ENST00000258613.4:c.88_97del	p.Arg30AlafsTer3	p.R30Afs*3	ENST00000258613	NM_018676.3	30	AGAGAGCCAGgc/gc	0	.	.	.	.	.	-	REPG/X	protein_coding	YES	CCDS9432.1	88-97	INDELOCATOR*|PINDEL	.	CATGGCCTGGCTCTCTCAAGA	NONE	.	.	hmmpanther:PTHR16311	.	.	ENSP00000258613	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000258613	Transcript	.	.	ENSG00000136114	17754	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THSD1_HUMAN	THSD1	HGNC	F5H419_HUMAN	.	UPI000007376D	deletion	THSD1,frameshift_variant,p.Arg30AlafsTer3,ENST00000349258,;THSD1,frameshift_variant,p.Arg30AlafsTer3,ENST00000258613,;THSD1,intron_variant,,ENST00000544466,;RNY4P24,upstream_gene_variant,,ENST00000362735,;	267-276	68	57	SUCCESS
PSMB5	5693	.	GRCh37	14	23502649	23502649	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1378629697	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	53	0	ENST00000361611.6:c.433A>G	p.Met145Val	p.M145V	ENST00000361611	NM_002797.3	145	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9584.1	433	MUTECT|MUSE|VARSCANS	.	CACCATGTTGG	NONE	.	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599:SF51,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	.	ENSP00000355325	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000361611	Transcript	.	.	ENSG00000100804	9542	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.272)	.	tolerated(0.1)	.	PSB5_HUMAN	PSMB5	HGNC	.	.	UPI000013C701	SNV	PSMB5,missense_variant,p.Met94Val,ENST00000555895,;PSMB5,missense_variant,p.Met145Val,ENST00000361611,;PSMB5,missense_variant,p.Met42Val,ENST00000425762,;PSMB5,missense_variant,p.Met145Val,ENST00000493471,;PSMB5,intron_variant,,ENST00000460922,;AL132780.1,downstream_gene_variant,,ENST00000385031,;PSMB5,3_prime_UTR_variant,,ENST00000334454,;	697	53	44	SUCCESS
CIDEB	27141	.	GRCh37	14	24775280	24775280	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	45	0	ENST00000258807.5:c.400T>C	p.Phe134Leu	p.F134L	ENST00000258807	NM_014430.2	134	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS32056.1	400	MUTECT|MUSE	.	GGTGAATCGGG	NONE	.	.	hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF10	.	.	ENSP00000337731	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000336557	Transcript	.	.	ENSG00000136305	1977	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.17)	.	CIDEB_HUMAN	CIDEB	HGNC	G3V4E2_HUMAN	.	UPI0000001BDD	SNV	CIDEB,missense_variant,p.Phe134Leu,ENST00000554411,;CIDEB,missense_variant,p.Phe134Leu,ENST00000336557,;CIDEB,missense_variant,p.Phe134Leu,ENST00000258807,;NOP9,3_prime_UTR_variant,,ENST00000267425,;LTB4R2,intron_variant,,ENST00000527924,;CIDEB,intron_variant,,ENST00000556756,;NOP9,intron_variant,,ENST00000557362,;LTB4R2,upstream_gene_variant,,ENST00000530080,;LTB4R2,upstream_gene_variant,,ENST00000543919,;LTB4R2,upstream_gene_variant,,ENST00000533293,;NOP9,downstream_gene_variant,,ENST00000396802,;LTB4R2,upstream_gene_variant,,ENST00000528054,;CIDEB,downstream_gene_variant,,ENST00000555817,;CIDEB,downstream_gene_variant,,ENST00000555471,;	1703	45	36	SUCCESS
BAZ1A	11177	.	GRCh37	14	35231121	35231121	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	275	34	350	1	ENST00000360310.1:c.4085A>G	p.Lys1362Arg	p.K1362R	ENST00000360310	NM_013448.2	1362	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS9651.1	4085	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTTTCCTG	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145	.	.	ENSP00000353458	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000360310	Transcript	.	.	ENSG00000198604	960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.31)	.	BAZ1A_HUMAN	BAZ1A	HGNC	D3DS96_HUMAN	.	UPI00001584D3	SNV	BAZ1A,missense_variant,p.Lys1330Arg,ENST00000358716,;BAZ1A,missense_variant,p.Lys1362Arg,ENST00000360310,;BAZ1A,missense_variant,p.Lys1362Arg,ENST00000382422,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000557739,;BAZ1A,downstream_gene_variant,,ENST00000554865,;BAZ1A,upstream_gene_variant,,ENST00000555331,;	4653	351	310	SUCCESS
COQ6	51004	.	GRCh37	14	74422552	74422552	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	116	0	ENST00000334571.2:c.402T>G	p.Asp134Glu	p.D134E	ENST00000334571	NM_182476.2	134	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS9823.1	402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATAATTT	NONE	.	.	hmmpanther:PTHR13789:SF5,hmmpanther:PTHR13789,TIGRFAM_domain:TIGR01988,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01989,Superfamily_domains:SSF51905	.	.	ENSP00000333946	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000334571	Transcript	.	.	ENSG00000119723	20233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.24)	.	COQ6_HUMAN	COQ6	HGNC	G3V2W8_HUMAN	.	UPI0000127F00	SNV	COQ6,missense_variant,p.Asp59Glu,ENST00000238709,;COQ6,missense_variant,p.Asp134Glu,ENST00000334571,;COQ6,missense_variant,p.Asp134Glu,ENST00000554920,;COQ6,missense_variant,p.Asp59Glu,ENST00000554320,;COQ6,missense_variant,p.Asp109Glu,ENST00000394026,;ENTPD5,downstream_gene_variant,,ENST00000557325,;COQ6,non_coding_transcript_exon_variant,,ENST00000555552,;COQ6,upstream_gene_variant,,ENST00000557780,;COQ6,3_prime_UTR_variant,,ENST00000554153,;COQ6,3_prime_UTR_variant,,ENST00000557584,;COQ6,3_prime_UTR_variant,,ENST00000554341,;COQ6,3_prime_UTR_variant,,ENST00000555196,;COQ6,non_coding_transcript_exon_variant,,ENST00000555392,;COQ6,non_coding_transcript_exon_variant,,ENST00000555511,;COQ6,non_coding_transcript_exon_variant,,ENST00000556300,;COQ6,non_coding_transcript_exon_variant,,ENST00000553462,;COQ6,non_coding_transcript_exon_variant,,ENST00000557205,;COQ6,non_coding_transcript_exon_variant,,ENST00000554193,;COQ6,non_coding_transcript_exon_variant,,ENST00000553922,;COQ6,upstream_gene_variant,,ENST00000553448,;COQ6,downstream_gene_variant,,ENST00000554217,;COQ6,upstream_gene_variant,,ENST00000556588,;	442	116	88	SUCCESS
VPS13C	54832	.	GRCh37	15	62182512	62182512	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	105	0	ENST00000261517.5:c.9193A>G	p.Thr3065Ala	p.T3065A	ENST00000261517	NM_020821.2	3065	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32257.1	9193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGGTGAAAA	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	67/85	.	.	.	.	.	.	.	.	.	67/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Thr3065Ala,ENST00000261517,;VPS13C,missense_variant,p.Thr3065Ala,ENST00000395896,;VPS13C,missense_variant,p.Thr3022Ala,ENST00000249837,;VPS13C,missense_variant,p.Thr3022Ala,ENST00000395898,;	9267	105	67	SUCCESS
DENND4A	10260	.	GRCh37	15	65962395	65962395	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	8	99	0	ENST00000431932.2:c.4464A>T	p.Leu1488Phe	p.L1488F	ENST00000431932	NM_005848.3	1488	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS53949.1	4593	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGTAAGAA	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	26/33	.	.	.	.	.	.	.	.	.	26/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.234)	.	deleterious(0)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Leu1531Phe,ENST00000443035,;DENND4A,missense_variant,p.Leu1488Phe,ENST00000431932,;	4809	99	87	SUCCESS
BBS4	585	.	GRCh37	15	73016989	73016989	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	106	0	ENST00000268057.4:c.580G>A	p.Ala194Thr	p.A194T	ENST00000268057	NM_033028.4	194	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10246.1	580	MUTECT|MUSE	.	AGAAAGCAGTG	NONE	.	.	Superfamily_domains:SSF48452,Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF389,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000268057	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000268057	Transcript	1	.	ENSG00000140463	969	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.764)	.	deleterious(0.03)	.	BBS4_HUMAN	BBS4	HGNC	.	.	UPI000013D78E	SNV	BBS4,missense_variant,p.Ala191Thr,ENST00000569338,;BBS4,missense_variant,p.Ala194Thr,ENST00000268057,;BBS4,missense_variant,p.Ala202Thr,ENST00000395205,;BBS4,missense_variant,p.Ala22Thr,ENST00000542334,;BBS4,missense_variant,p.Ala182Thr,ENST00000539603,;BBS4,downstream_gene_variant,,ENST00000564239,;BBS4,3_prime_UTR_variant,,ENST00000562084,;BBS4,3_prime_UTR_variant,,ENST00000567279,;BBS4,3_prime_UTR_variant,,ENST00000566400,;BBS4,3_prime_UTR_variant,,ENST00000566938,;BBS4,3_prime_UTR_variant,,ENST00000561914,;BBS4,3_prime_UTR_variant,,ENST00000565160,;BBS4,non_coding_transcript_exon_variant,,ENST00000562219,;BBS4,downstream_gene_variant,,ENST00000569440,;BBS4,downstream_gene_variant,,ENST00000563600,;	621	106	96	SUCCESS
FSD2	123722	.	GRCh37	15	83451591	83451591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	23	270	0	ENST00000334574.8:c.922A>G	p.Thr308Ala	p.T308A	ENST00000334574		308	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS45332.1	922	RADIA|MUTECT|MUSE|VARSCANS	.	TATTGTTTCCA	NONE	.	.	hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099	.	.	ENSP00000335651	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000334574	Transcript	.	.	ENSG00000186628	18024	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.117)	.	deleterious(0.04)	.	FSD2_HUMAN	FSD2	HGNC	H0YLA8_HUMAN	.	UPI0000161097	SNV	FSD2,missense_variant,p.Thr308Ala,ENST00000334574,;FSD2,missense_variant,p.Thr308Ala,ENST00000541889,;FSD2,downstream_gene_variant,,ENST00000561368,;	1104	270	207	SUCCESS
AKAP13	11214	.	GRCh37	15	86265519	86265519	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	14	132	0	ENST00000394518.2:c.6437T>G	p.Val2146Gly	p.V2146G	ENST00000394518	NM_007200.4	2146	gTa/gGa	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS32320.1	6449	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGTAACTC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000354718	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,missense_variant,p.Val2146Gly,ENST00000394518,;AKAP13,missense_variant,p.Val2150Gly,ENST00000361243,;AKAP13,missense_variant,p.Val391Gly,ENST00000394510,;RP11-158M2.2,downstream_gene_variant,,ENST00000561417,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560676,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560579,;AKAP13,downstream_gene_variant,,ENST00000559820,;AKAP13,non_coding_transcript_exon_variant,,ENST00000558009,;AKAP13,non_coding_transcript_exon_variant,,ENST00000558644,;AKAP13,downstream_gene_variant,,ENST00000559278,;AKAP13,downstream_gene_variant,,ENST00000560482,;	6530	132	132	SUCCESS
NOXO1	124056	.	GRCh37	16	2029505	2029505	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	37	0	ENST00000397280.4:c.754C>T	p.Arg252Cys	p.R252C	ENST00000397280		252	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS42101.1	754	RADIA|MUSE	.	TGCGCGGCTGC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR15706:SF1,hmmpanther:PTHR15706,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000380450	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000397280	Transcript	.	.	ENSG00000196408	19404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.091)	.	deleterious(0.04)	.	NOXO1_HUMAN	NOXO1	HGNC	.	.	UPI000006E194	SNV	NOXO1,missense_variant,p.Arg246Cys,ENST00000354249,;NOXO1,missense_variant,p.Arg251Cys,ENST00000566005,;NOXO1,missense_variant,p.Arg252Cys,ENST00000397280,;NOXO1,missense_variant,p.Arg247Cys,ENST00000356120,;TBL3,3_prime_UTR_variant,,ENST00000568546,;AC005606.1,upstream_gene_variant,,ENST00000598236,;TBL3,downstream_gene_variant,,ENST00000332704,;GFER,upstream_gene_variant,,ENST00000248114,;NOXO1,downstream_gene_variant,,ENST00000567471,;GFER,upstream_gene_variant,,ENST00000561710,;GFER,upstream_gene_variant,,ENST00000569451,;NOXO1,non_coding_transcript_exon_variant,,ENST00000569739,;TBL3,downstream_gene_variant,,ENST00000561907,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,downstream_gene_variant,,ENST00000569792,;TBL3,downstream_gene_variant,,ENST00000564171,;TBL3,downstream_gene_variant,,ENST00000567615,;TBL3,downstream_gene_variant,,ENST00000569628,;GFER,upstream_gene_variant,,ENST00000565658,;	758	37	27	SUCCESS
SLC5A11	115584	.	GRCh37	16	24902218	24902218	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	80	0	ENST00000347898.3:c.693A>G	p.Gly231=	p.G231=	ENST00000347898	NM_052944.3	231	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS10625.1	693	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGACTGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF127,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000289932	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000347898	Transcript	.	.	ENSG00000158865	23091	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SC5AB_HUMAN	SLC5A11	HGNC	H3BN85_HUMAN	.	UPI0000036161	SNV	SLC5A11,synonymous_variant,p.%3D,ENST00000539472,;SLC5A11,synonymous_variant,p.%3D,ENST00000568579,;SLC5A11,synonymous_variant,p.%3D,ENST00000545376,;SLC5A11,synonymous_variant,p.%3D,ENST00000424767,;SLC5A11,synonymous_variant,p.%3D,ENST00000565769,;SLC5A11,synonymous_variant,p.%3D,ENST00000567758,;SLC5A11,synonymous_variant,p.%3D,ENST00000347898,;SLC5A11,intron_variant,,ENST00000569071,;SLC5A11,intron_variant,,ENST00000449109,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;SLC5A11,non_coding_transcript_exon_variant,,ENST00000565586,;	1315	80	60	SUCCESS
POLR2A	5430	.	GRCh37	17	7400976	7400976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	83	0	ENST00000322644.6:c.989A>T	p.Gln330Leu	p.Q330L	ENST00000322644	NM_000937.4	330	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS32548.1	989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAGAAGT	NONE	.	.	hmmpanther:PTHR19376:SF33,hmmpanther:PTHR19376,Pfam_domain:PF04997,SMART_domains:SM00663,Superfamily_domains:SSF64484	.	.	ENSP00000314949	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000322644	Transcript	.	.	ENSG00000181222	9187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.819)	.	.	.	RPB1_HUMAN	POLR2A	HGNC	.	.	UPI0000140EB9	SNV	POLR2A,missense_variant,p.Gln330Leu,ENST00000572844,;POLR2A,missense_variant,p.Gln330Leu,ENST00000322644,;POLR2A,upstream_gene_variant,,ENST00000576114,;POLR2A,upstream_gene_variant,,ENST00000576952,;POLR2A,upstream_gene_variant,,ENST00000575547,;	1388	83	69	SUCCESS
NPC1	4864	.	GRCh37	18	21140425	21140425	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1255173529	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	78	0	ENST00000269228.5:c.651G>A	p.Met217Ile	p.M217I	ENST00000269228	NM_000271.4	217	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS11878.1	651	MUTECT|MUSE	.	GGCTCCATCCC	NONE	.	.	hmmpanther:PTHR10796:SF35,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00917	.	.	ENSP00000269228	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000269228	Transcript	.	.	ENSG00000141458	7897	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.39)	.	NPC1_HUMAN	NPC1	HGNC	.	.	UPI000013D80F	SNV	NPC1,missense_variant,p.Met217Ile,ENST00000269228,;NPC1,upstream_gene_variant,,ENST00000412552,;NPC1,upstream_gene_variant,,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;	1206	78	80	SUCCESS
DAZAP1	26528	.	GRCh37	19	1434862	1434862	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773570832	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	23	0	ENST00000233078.4:c.1175G>A	p.Gly392Glu	p.G392E	ENST00000233078	NM_018959.2	392	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12065.1	1175	MUTECT|MUSE	.	CTTTGGACGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF259	.	.	ENSP00000233078	.	12/12	.	.	.	.	.	.	.	.	rs773570832	12/12	PASS	ENST00000233078	Transcript	.	.	ENSG00000071626	2683	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0)	.	DAZP1_HUMAN	DAZAP1	HGNC	Q5IRM7_HUMAN,B3KS63_HUMAN	.	UPI00000728D6	SNV	DAZAP1,missense_variant,p.Gly392Glu,ENST00000233078,;DAZAP1,missense_variant,p.Gly191Glu,ENST00000587079,;DAZAP1,3_prime_UTR_variant,,ENST00000336761,;DAZAP1,3_prime_UTR_variant,,ENST00000591999,;RPS15,upstream_gene_variant,,ENST00000591804,;RPS15,upstream_gene_variant,,ENST00000593052,;RPS15,upstream_gene_variant,,ENST00000233609,;RPS15,upstream_gene_variant,,ENST00000586686,;DAZAP1,downstream_gene_variant,,ENST00000592453,;RPS15,upstream_gene_variant,,ENST00000589656,;RPS15,upstream_gene_variant,,ENST00000591032,;RPS15,upstream_gene_variant,,ENST00000586656,;RPS15,upstream_gene_variant,,ENST00000586096,;RPS15,upstream_gene_variant,,ENST00000585665,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000585485,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589874,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589484,;RPS15,upstream_gene_variant,,ENST00000592623,;RPS15,upstream_gene_variant,,ENST00000592588,;RPS15,upstream_gene_variant,,ENST00000592700,;	1336	23	22	SUCCESS
HAUS5	23354	.	GRCh37	19	36109582	36109582	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375370177	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	25	0	ENST00000203166.5:c.997G>T	p.Val333Phe	p.V333F	ENST00000203166	NM_015302.1	333	Gtc/Ttc	0	A:0.0005	.	.	.	.	T	V/F	protein_coding	YES	CCDS42550.1	997	MUTECT|MUSE	.	GACGCGTCCTG	NONE	byFrequency|byCluster	.	Pfam_domain:PF14817,Prints_domain:PR02091	.	A:0	ENSP00000439056	.	12/19	.	.	.	.	.	.	.	.	rs375370177	12/19	PASS	ENST00000203166	Transcript	.	.	ENSG00000249115	29130	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.105)	.	tolerated(0.34)	.	HAUS5_HUMAN	HAUS5	HGNC	.	.	UPI0000169F45	SNV	HAUS5,missense_variant,p.Val333Phe,ENST00000203166,;HAUS5,3_prime_UTR_variant,,ENST00000379045,;HAUS5,upstream_gene_variant,,ENST00000590994,;HAUS5,3_prime_UTR_variant,,ENST00000587439,;HAUS5,3_prime_UTR_variant,,ENST00000424522,;HAUS5,non_coding_transcript_exon_variant,,ENST00000428854,;HAUS5,non_coding_transcript_exon_variant,,ENST00000585968,;HAUS5,downstream_gene_variant,,ENST00000592291,;HAUS5,upstream_gene_variant,,ENST00000430749,;HAUS5,downstream_gene_variant,,ENST00000588570,;	1022	25	32	SUCCESS
ZNF793	390927	.	GRCh37	19	38028241	38028241	+	synonymous_variant	Silent	SNP	C	C	T	rs371897623	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	58	0	ENST00000445217.1:c.681C>T	p.His227=	p.H227=	ENST00000445217		227	caC/caT	0	T:0.0002	.	.	.	.	T	H	protein_coding	YES	CCDS46062.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCACGTCTG	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	T:0	ENSP00000396402	.	4/4	.	.	.	.	.	.	.	.	rs371897623,COSM995750	4/4	PASS	ENST00000445217	Transcript	.	.	ENSG00000188227	33115	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	SNV	ZNF793,synonymous_variant,p.%3D,ENST00000587143,;ZNF793,synonymous_variant,p.%3D,ENST00000542455,;ZNF793,synonymous_variant,p.%3D,ENST00000445217,;ZNF793,3_prime_UTR_variant,,ENST00000588578,;ZNF793,intron_variant,,ENST00000589319,;ZNF793,downstream_gene_variant,,ENST00000587490,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,downstream_gene_variant,,ENST00000587986,;ZNF793,intron_variant,,ENST00000586187,;	716	58	71	SUCCESS
ZNF607	84775	.	GRCh37	19	38189048	38189048	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs371361210	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	20	120	0	ENST00000355202.4:c.1984A>T	p.Ile662Leu	p.I662L	ENST00000355202	NM_032689.4	662	Ata/Tta	0	A:0	.	.	.	.	A	I/L	protein_coding	YES	CCDS33006.1	1984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTATACTAA	NONE	byCluster	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157	.	A:0.0001	ENSP00000347338	.	5/5	.	.	.	.	.	.	.	.	rs371361210	5/5	PASS	ENST00000355202	Transcript	.	.	ENSG00000198182	28192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.74)	.	ZN607_HUMAN	ZNF607	HGNC	Q59G67_HUMAN,K7EN48_HUMAN	.	UPI000040BC07	SNV	ZNF607,missense_variant,p.Ile661Leu,ENST00000395835,;ZNF607,missense_variant,p.Ile662Leu,ENST00000355202,;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;CTD-2528L19.3,upstream_gene_variant,,ENST00000589357,;	2580	120	115	SUCCESS
SULT2B1	6820	.	GRCh37	19	49090570	49090570	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138292714	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	42	0	ENST00000201586.2:c.299G>A	p.Arg100Gln	p.R100Q	ENST00000201586	NM_177973.1	100	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12723.1	299	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGGGCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11783:SF9,hmmpanther:PTHR11783,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	A:0.0002	ENSP00000201586	.	3/7	.	.	.	.	.	.	.	.	rs138292714	3/7	PASS	ENST00000201586	Transcript	.	.	ENSG00000088002	11459	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ST2B1_HUMAN	SULT2B1	HGNC	.	.	UPI0000073F98	SNV	SULT2B1,missense_variant,p.Arg85Gln,ENST00000323090,;SULT2B1,missense_variant,p.Arg100Gln,ENST00000201586,;SULT2B1,upstream_gene_variant,,ENST00000594274,;	477	42	51	SUCCESS
MUC16	94025	.	GRCh37	19	9060181	9060181	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs753252672	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	13	108	0	ENST00000397910.4:c.27265A>C	p.Thr9089Pro	p.T9089P	ENST00000397910	NM_024690.2	9089	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS54212.1	27265	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTAGCCC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs753252672	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr9089Pro,ENST00000397910,;	27469	108	103	SUCCESS
PTCHD2	0	.	GRCh37	1	11584041	11584041	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs752172755	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	5	83	0	ENST00000294484.6:c.2405G>C	p.Arg802Pro	p.R802P	ENST00000294484	NM_020780.1	802	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS41247.1	2405	MUTECT|MUSE	.	CATCCGGACGT	NONE	byFrequency	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	11/21	.	.	.	.	.	.	.	.	rs752172755,COSM322883	11/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.998)	.	tolerated_low_confidence(0.12)	0,1	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Arg802Pro,ENST00000389575,;PTCHD2,missense_variant,p.Arg802Pro,ENST00000294484,;	2543	83	76	SUCCESS
PRAMEF20	645425	.	GRCh37	1	13742998	13742998	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs577731266	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	11	324	0	ENST00000316412.5:c.187C>T	p.Arg63Cys	p.R63C	ENST00000316412	NM_001099852.1	63	Cgc/Tgc	0	.	T:0	.	T:0.0029	.	T	R/C	protein_coding	YES	CCDS41265.1	187	MUTECT|MUSE	.	TCCTCCGCCTT	NONE	byFrequency|by1000G	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF21,hmmpanther:PTHR14224	T:0	.	ENSP00000346275	T:0	2/4	.	.	.	.	.	.	.	.	rs577731266	2/4	PASS	ENST00000316412	Transcript	.	T:0.0004	ENSG00000204478	25224	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	T:0	tolerated(0.08)	.	PRA20_HUMAN	PRAMEF20	HGNC	.	.	UPI0000237232	SNV	PRAMEF20,missense_variant,p.Arg63Cys,ENST00000602960,;PRAMEF20,missense_variant,p.Arg63Cys,ENST00000316412,;	286	324	215	SUCCESS
NEK2	4751	.	GRCh37	1	211848801	211848801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	75	0	ENST00000366999.4:c.21C>A	p.Asp7Glu	p.D7E	ENST00000366999	NM_002497.3	7	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS1500.1	21	RADIA|MUTECT|MUSE|VARSCANS	.	TCATAGTCCTC	NONE	.	.	hmmpanther:PTHR24362,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000355966	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000366999	Transcript	.	.	ENSG00000117650	7745	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.069)	.	deleterious(0.01)	.	NEK2_HUMAN	NEK2	HGNC	B4DZU0_HUMAN	.	UPI000012FF27	SNV	NEK2,missense_variant,p.Asp7Glu,ENST00000366999,;NEK2,missense_variant,p.Asp7Glu,ENST00000366998,;NEK2,intron_variant,,ENST00000540251,;RP11-122M14.1,upstream_gene_variant,,ENST00000415202,;NEK2,upstream_gene_variant,,ENST00000462283,;	160	75	65	SUCCESS
FMN2	56776	.	GRCh37	1	240371393	240371393	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201701711	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	57	0	ENST00000319653.9:c.3281C>A	p.Ala1094Glu	p.A1094E	ENST00000319653	NM_020066.4	1094	gCg/gAg	0	T:0.0005	.	.	.	.	A	A/E	protein_coding	YES	CCDS31069.2	3281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCGGGCA	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF06346,Pfam_domain:PF06346,SMART_domains:SM00498	.	T:0.0019	ENSP00000318884	.	5/18	.	.	.	.	.	.	.	.	rs201701711,COSM1748259	5/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	.	0,1	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Ala1094Glu,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000447095,;	3511	57	35	SUCCESS
EPB41L1	2036	.	GRCh37	20	34761813	34761813	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	74	0	ENST00000338074.2:c.114C>A	p.Gly38=	p.G38=	ENST00000338074	NM_012156.2	38	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13271.1	114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCCACCC	NONE	.	.	PIRSF_domain:PIRSF002304	.	.	ENSP00000337168	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000338074	Transcript	1	.	ENSG00000088367	3378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41L1_HUMAN	EPB41L1	HGNC	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN	.	UPI0000129AF8	SNV	EPB41L1,synonymous_variant,p.%3D,ENST00000452261,;EPB41L1,synonymous_variant,p.%3D,ENST00000338074,;EPB41L1,synonymous_variant,p.%3D,ENST00000406771,;EPB41L1,synonymous_variant,p.%3D,ENST00000373941,;EPB41L1,synonymous_variant,p.%3D,ENST00000427533,;EPB41L1,synonymous_variant,p.%3D,ENST00000447825,;EPB41L1,intron_variant,,ENST00000373950,;EPB41L1,intron_variant,,ENST00000202028,;EPB41L1,intron_variant,,ENST00000432589,;EPB41L1,intron_variant,,ENST00000373945,;EPB41L1,intron_variant,,ENST00000430276,;EPB41L1,intron_variant,,ENST00000373946,;EPB41L1,intron_variant,,ENST00000441639,;AL121895.1,upstream_gene_variant,,ENST00000597622,;	275	74	68	SUCCESS
DHX35	60625	.	GRCh37	20	37621023	37621023	+	synonymous_variant	Silent	SNP	C	C	T	rs549854740	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	10	127	0	ENST00000252011.3:c.537C>T	p.His179=	p.H179=	ENST00000252011	NM_021931.3	179	caC/caT	0	.	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS13310.1	537	MUTECT|MUSE|VARSCANS	.	GCCCACGAGAG	NONE	by1000G	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934,PROSITE_patterns:PS00690,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	T:0	.	ENSP00000252011	T:0	7/22	.	.	.	.	.	.	.	.	rs549854740	7/22	PASS	ENST00000252011	Transcript	.	T:0.0002	ENSG00000101452	15861	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.001	.	.	DHX35_HUMAN	DHX35	HGNC	.	.	UPI0000129088	SNV	DHX35,synonymous_variant,p.%3D,ENST00000252011,;DHX35,synonymous_variant,p.%3D,ENST00000373325,;DHX35,synonymous_variant,p.%3D,ENST00000373323,;DHX35,3_prime_UTR_variant,,ENST00000484417,;	570	127	116	SUCCESS
PCK1	5105	.	GRCh37	20	56139383	56139383	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1298925180	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	15	128	0	ENST00000319441.4:c.1120G>A	p.Asp374Asn	p.D374N	ENST00000319441	NM_002591.3	374	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS13460.1	1120	RADIA|MUTECT|MUSE	.	GCATTGATGAG	NONE	.	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.90.228.20,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795	.	.	ENSP00000319814	.	7/10	.	.	.	.	.	.	.	.	COSM1533929	7/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.02)	.	tolerated(0.05)	1	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,missense_variant,p.Asp242Asn,ENST00000535860,;PCK1,missense_variant,p.Asp374Asn,ENST00000319441,;PCK1,missense_variant,p.Asp57Asn,ENST00000543666,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	1284	128	90	SUCCESS
PCK1	5105	.	GRCh37	20	56139386	56139386	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	130	0	ENST00000319441.4:c.1123G>A	p.Glu375Lys	p.E375K	ENST00000319441	NM_002591.3	375	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13460.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGAGCCG	NONE	.	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.90.228.20,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795	.	.	ENSP00000319814	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.45)	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,missense_variant,p.Glu243Lys,ENST00000535860,;PCK1,missense_variant,p.Glu375Lys,ENST00000319441,;PCK1,missense_variant,p.Glu58Lys,ENST00000543666,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	1287	131	88	SUCCESS
GNAS	2778	.	GRCh37	20	57484420	57484420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11554273	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	93	0	ENST00000371085.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000371085	NM_000516.4	201	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS46622.1	2530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGTGTC	SITE|p.R844C|c.2530C>T|31,SITE|p.R201C|c.601C>T|420,BUFFER|p.R201S|c.601C>A|15,BUFFER|p.R844H|c.2531G>A|25,BUFFER|p.R201L|c.602G>T|3,BUFFER|p.R201H|c.602G>A|306	.	.	hmmpanther:PTHR10218:SF36,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540,Superfamily_domains:SSF47895,Prints_domain:PR00318	.	.	ENSP00000360141	.	8/13	.	.	.	.	.	.	.	.	COSM27899,COSM1757313,COSM27887,COSM1566192,COSM123397	8/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1,1,1,1	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Arg201Cys,ENST00000371085,;GNAS,missense_variant,p.Arg187Cys,ENST00000306090,;GNAS,missense_variant,p.Arg142Cys,ENST00000604005,;GNAS,missense_variant,p.Arg202Cys,ENST00000354359,;GNAS,missense_variant,p.Arg187Cys,ENST00000371095,;GNAS,missense_variant,p.Arg830Cys,ENST00000371102,;GNAS,missense_variant,p.Arg186Cys,ENST00000265620,;GNAS,missense_variant,p.Arg844Cys,ENST00000371100,;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000482112,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000472183,;GNAS,non_coding_transcript_exon_variant,,ENST00000464788,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000467227,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,upstream_gene_variant,,ENST00000475610,;	3082	93	91	SUCCESS
DIDO1	11083	.	GRCh37	20	61511712	61511712	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746504551	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	48	0	ENST00000266070.4:c.5596G>A	p.Ala1866Thr	p.A1866T	ENST00000266070	NM_033081.2	1866	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33506.1	5596	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCGCCCG	NONE	byFrequency	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	16/16	.	.	.	.	.	.	.	.	rs746504551	16/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Ala1866Thr,ENST00000266070,;DIDO1,missense_variant,p.Ala1866Thr,ENST00000395343,;	5922	48	49	SUCCESS
MYH9	4627	.	GRCh37	22	36737554	36737554	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	74	0	ENST00000216181.5:c.351C>T	p.Phe117=	p.F117=	ENST00000216181	NM_002473.4	117	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS13927.1	351	MUTECT|MUSE	.	ACACAGAACAG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000216181	.	3/41	.	.	.	.	.	.	.	.	.	3/41	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,synonymous_variant,p.%3D,ENST00000401701,;MYH9,synonymous_variant,p.%3D,ENST00000216181,;	582	74	70	SUCCESS
GLI2	2736	.	GRCh37	2	121747077	121747077	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	54	0	ENST00000361492.4:c.3587G>A	p.Gly1196Glu	p.G1196E	ENST00000361492	NM_005270.4	1196	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS33283.1	3587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGGGGCC	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.546)	.	tolerated(0.1)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Gly1196Glu,ENST00000452319,;GLI2,missense_variant,p.Gly1196Glu,ENST00000361492,;GLI2,intron_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	3647	54	68	SUCCESS
RMDN2	151393	.	GRCh37	2	38178436	38178436	+	intron_variant	Intron	SNP	C	C	T	rs181813340	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	37	0	ENST00000354545.2:c.452+21564C>T		p.*151*	ENST00000354545	NM_001170791.1	26		0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS1792.1	78	MUTECT|MUSE	.	ACAGACGCCCA	NONE	byCluster|by1000G	.	.	T:0.001	T:0.0001	ENSP00000234195	T:0	2/11	.	.	.	.	.	.	.	.	rs181813340	2/11	PASS	ENST00000234195	Transcript	.	T:0.0002	ENSG00000115841	26567	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RMD2_HUMAN	RMDN2	HGNC	.	.	UPI000013C99A	SNV	RMDN2,synonymous_variant,p.%3D,ENST00000402091,;RMDN2,synonymous_variant,p.%3D,ENST00000234195,;RMDN2,synonymous_variant,p.%3D,ENST00000407257,;RMDN2,intron_variant,,ENST00000442857,;RMDN2,intron_variant,,ENST00000406384,;RMDN2,intron_variant,,ENST00000354545,;RMDN2,intron_variant,,ENST00000417700,;RMDN2,intron_variant,,ENST00000414644,;RMDN2-AS1,intron_variant,,ENST00000414365,;RMDN2,intron_variant,,ENST00000440353,;	194	37	33	SUCCESS
ANKRD36BP2	645784	.	GRCh37	2	89065665	89065665	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	41	0	ENST00000393525.3:n.281A>G		p.*94*	ENST00000393525				0	.	.	.	.	.	G	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTACCTTC	NONE	.	1170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408759	Transcript	.	.	ENSG00000221686	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC096579.1	Clone_based_ensembl_gene	.	.	.	SNV	AC096579.1,upstream_gene_variant,,ENST00000408759,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000427055,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000443770,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000421951,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393525,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393515,;	.	41	44	SUCCESS
SMC4	10051	.	GRCh37	3	160141354	160141354	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	24	78	0	ENST00000344722.5:c.2161T>G	p.Leu721Val	p.L721V	ENST00000344722	NM_005496.3	721	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3189.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACTTGGAT	NONE	.	.	hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF148,Pfam_domain:PF02463,Pfam_domain:PF06470,PIRSF_domain:PIRSF005719,SMART_domains:SM00968,Superfamily_domains:0038317	.	.	ENSP00000349961	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000357388	Transcript	.	.	ENSG00000113810	14013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	SMC4_HUMAN	SMC4	HGNC	C9JWF0_HUMAN,C9JVD8_HUMAN,C9JR83_HUMAN,C9JJ64_HUMAN,C9J9E4_HUMAN,C9J578_HUMAN,C9IYK2_HUMAN	.	UPI000006DA0A	SNV	SMC4,missense_variant,p.Leu721Val,ENST00000344722,;SMC4,missense_variant,p.Leu696Val,ENST00000469762,;SMC4,missense_variant,p.Leu721Val,ENST00000462787,;SMC4,missense_variant,p.Leu721Val,ENST00000357388,;SMC4,missense_variant,p.Leu721Val,ENST00000360111,;SMC4,3_prime_UTR_variant,,ENST00000469858,;SMC4,non_coding_transcript_exon_variant,,ENST00000497203,;SMC4,non_coding_transcript_exon_variant,,ENST00000462668,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000484799,;	2612	78	99	SUCCESS
MUC4	4585	.	GRCh37	3	195513066	195513066	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	319	45	504	0	ENST00000463781.3:c.5385C>A	p.Val1795=	p.V1795=	ENST00000463781	NM_018406.6	1795	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54700.1	5385	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTGACAGG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	5845	504	365	SUCCESS
CHL1	10752	.	GRCh37	3	425546	425546	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	123	0	ENST00000397491.2:c.2176A>G	p.Lys726Glu	p.K726E	ENST00000397491		726	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS2556.1	2224	MUTECT|MUSE|VARSCANS	.	AACCCAAGGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000256509	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.281)	.	deleterious(0.04)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Lys726Glu,ENST00000397491,;CHL1,missense_variant,p.Lys742Glu,ENST00000256509,;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1,non_coding_transcript_exon_variant,,ENST00000470880,;CHL1,non_coding_transcript_exon_variant,,ENST00000470005,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	2866	123	89	SUCCESS
PTPN23	25930	.	GRCh37	3	47452056	47452056	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1389192363	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	124	0	ENST00000265562.4:c.2768C>T	p.Thr923Ile	p.T923I	ENST00000265562	NM_015466.2	923	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS2754.1	2768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACACCTACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19134:SF27,hmmpanther:PTHR19134	.	.	ENSP00000265562	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000265562	Transcript	.	.	ENSG00000076201	14406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PTN23_HUMAN	PTPN23	HGNC	B4DST5_HUMAN	.	UPI000006EBC4	SNV	PTPN23,missense_variant,p.Thr797Ile,ENST00000431726,;PTPN23,missense_variant,p.Thr923Ile,ENST00000265562,;SCAP,downstream_gene_variant,,ENST00000545718,;SCAP,downstream_gene_variant,,ENST00000441517,;PTPN23,downstream_gene_variant,,ENST00000456221,;SCAP,downstream_gene_variant,,ENST00000265565,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;PTPN23,downstream_gene_variant,,ENST00000477276,;SCAP,downstream_gene_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000495653,;	2845	124	53	SUCCESS
CLGN	1047	.	GRCh37	4	141313503	141313503	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	10	247	1	ENST00000325617.5:c.1521A>G	p.Lys507=	p.K507=	ENST00000325617	NM_004362.2	507	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS3751.1	1521	MUTECT|MUSE	.	TCGGTTTTTTT	NONE	.	.	hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000326699	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000325617	Transcript	.	.	ENSG00000153132	2060	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLGN_HUMAN	CLGN	HGNC	D6RAZ4_HUMAN,B4DRG2_HUMAN	.	UPI0000126E4A	SNV	CLGN,synonymous_variant,p.%3D,ENST00000414773,;CLGN,synonymous_variant,p.%3D,ENST00000325617,;CLGN,synonymous_variant,p.%3D,ENST00000537281,;	1962	248	233	SUCCESS
GRIA2	2891	.	GRCh37	4	158254023	158254023	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777296512	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	116	0	ENST00000264426.9:c.935G>A	p.Arg312His	p.R312H	ENST00000264426	NM_001083619.1	312	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS3797.1	935	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCAACC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000296526	.	7/16	.	.	.	.	.	.	.	.	rs777296512	7/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	deleterious(0.04)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Arg265His,ENST00000393815,;GRIA2,missense_variant,p.Arg312His,ENST00000296526,;GRIA2,missense_variant,p.Arg312His,ENST00000264426,;GRIA2,missense_variant,p.Arg265His,ENST00000507898,;GRIA2,missense_variant,p.Arg265His,ENST00000449365,;GRIA2,missense_variant,p.Arg265His,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	1260	116	109	SUCCESS
FAM184B	27146	.	GRCh37	4	17711023	17711023	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs977021514	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	68	0	ENST00000265018.3:c.386C>T	p.Thr129Met	p.T129M	ENST00000265018	NM_015688.1	129	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS47033.1	386	MUTECT|MUSE	.	CCTTCGTCTCC	NONE	.	.	hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870	.	.	ENSP00000265018	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000265018	Transcript	.	.	ENSG00000047662	29235	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.8)	.	deleterious(0.02)	.	F184B_HUMAN	FAM184B	HGNC	.	.	UPI000020BD7C	SNV	FAM184B,missense_variant,p.Thr129Met,ENST00000265018,;	599	68	64	SUCCESS
DTHD1	401124	.	GRCh37	4	36296584	36296584	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	35	214	0	ENST00000456874.2:c.1191C>T	p.Asn397=	p.N397=	ENST00000456874	NM_001170700.2	397	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS54754.1	1191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACAACCT	NONE	.	.	hmmpanther:PTHR24199:SF7,hmmpanther:PTHR24199	.	.	ENSP00000401597	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000456874	Transcript	.	.	ENSG00000197057	37261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTHD1_HUMAN	DTHD1	HGNC	.	.	UPI00006C079E	SNV	DTHD1,synonymous_variant,p.%3D,ENST00000456874,;DTHD1,synonymous_variant,p.%3D,ENST00000507598,;DTHD1,synonymous_variant,p.%3D,ENST00000357504,;	1249	214	143	SUCCESS
COX18	285521	.	GRCh37	4	73923971	73923971	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201251329	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	36	117	0	ENST00000295890.4:c.862G>T	p.Val288Leu	p.V288L	ENST00000295890	NM_173827.2	288	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS3554.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGAAGC	BUFFER|p.F287F|c.861C>T|3	byCluster	.	Pfam_domain:PF02096,hmmpanther:PTHR12428:SF17,hmmpanther:PTHR12428	.	.	ENSP00000295890	.	6/6	.	.	.	.	.	.	.	.	rs201251329	6/6	PASS	ENST00000295890	Transcript	.	.	ENSG00000163626	26801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.21)	.	COX18_HUMAN	COX18	HGNC	.	.	UPI000006FD5F	SNV	COX18,missense_variant,p.Val289Leu,ENST00000507544,;COX18,missense_variant,p.Val288Leu,ENST00000295890,;COX18,3_prime_UTR_variant,,ENST00000449739,;COX18,3_prime_UTR_variant,,ENST00000510031,;	954	117	125	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86643102	86643102	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	21	197	0	ENST00000395184.1:c.245A>T	p.Lys82Met	p.K82M	ENST00000395184	NM_001025616.2	82	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS34025.1	245	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAAGTTCC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000378611	.	3/10	.	.	.	.	.	.	.	.	COSM243022	3/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.025)	.	deleterious(0.02)	1	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,missense_variant,p.Lys82Met,ENST00000503995,;ARHGAP24,missense_variant,p.Lys82Met,ENST00000395184,;ARHGAP24,5_prime_UTR_variant,,ENST00000512201,;MIR4451,upstream_gene_variant,,ENST00000580577,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000506421,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000509709,;	711	197	166	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140736620	140736620	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1561513386	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	14	169	0	ENST00000571252.1:c.1853C>T	p.Ala618Val	p.A618V	ENST00000571252	NM_018917.2	618	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS58979.1	1853	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGCAGTGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.25)	.	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	SNV	PCDHGA4,missense_variant,p.Ala618Val,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	1853	169	133	SUCCESS
ARSI	340075	.	GRCh37	5	149681722	149681722	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	36	0	ENST00000328668.7:c.215C>A	p.Pro72His	p.P72H	ENST00000328668	NM_001012301.2	72	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS34275.1	215	RADIA|MUSE	.	GCGTAGGGGTC	NONE	.	.	hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000333395	.	1/2	.	.	.	.	.	.	.	.	.	1/2	oxog	ENST00000328668	Transcript	1	.	ENSG00000183876	32521	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARSI_HUMAN	ARSI	HGNC	D6RDH0_HUMAN	.	UPI000003FD83	SNV	ARSI,missense_variant,p.Pro72His,ENST00000328668,;ARSI,intron_variant,,ENST00000509146,;ARSI,intron_variant,,ENST00000515301,;	795	36	19	SUCCESS
LIFR	3977	.	GRCh37	5	38482266	38482266	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs775137844	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	86	0	ENST00000263409.4:c.2725G>T	p.Glu909Ter	p.E909*	ENST00000263409	NM_002310.5	909	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3927.1	2725	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCAACAT	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91	.	.	ENSP00000263409	.	20/20	.	.	.	.	.	.	.	.	rs775137844	20/20	PASS	ENST00000263409	Transcript	1	.	ENSG00000113594	6597	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIFR_HUMAN	LIFR	HGNC	D6RJ94_HUMAN,D6RF33_HUMAN	.	UPI000004CAC2	SNV	LIFR,stop_gained,p.Glu909Ter,ENST00000263409,;LIFR,stop_gained,p.Glu909Ter,ENST00000453190,;LIFR,downstream_gene_variant,,ENST00000508477,;LIFR,downstream_gene_variant,,ENST00000506003,;	2888	86	84	SUCCESS
PDE4D	5144	.	GRCh37	5	58511685	58511685	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	95	0	ENST00000340635.6:c.565G>T	p.Glu189Ter	p.E189*	ENST00000340635	NM_001104631.1	189	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS47213.1	565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCCCGTC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF91	.	.	ENSP00000345502	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,stop_gained,p.Glu59Ter,ENST00000503258,;PDE4D,stop_gained,p.Glu128Ter,ENST00000546160,;PDE4D,stop_gained,p.Glu53Ter,ENST00000360047,;PDE4D,stop_gained,p.Glu189Ter,ENST00000340635,;PDE4D,stop_gained,p.Glu67Ter,ENST00000405755,;PDE4D,stop_gained,p.Glu125Ter,ENST00000507116,;PDE4D,stop_gained,p.Glu125Ter,ENST00000502575,;PDE4D,stop_gained,p.Glu128Ter,ENST00000502484,;PDE4D,intron_variant,,ENST00000505453,;PDE4D,non_coding_transcript_exon_variant,,ENST00000405053,;PDE4D,non_coding_transcript_exon_variant,,ENST00000503947,;PDE4D,non_coding_transcript_exon_variant,,ENST00000515324,;PDE4D,stop_gained,p.Glu125Ter,ENST00000309641,;PDE4D,non_coding_transcript_exon_variant,,ENST00000514231,;	741	95	71	SUCCESS
SASH1	23328	.	GRCh37	6	148835544	148835544	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	35	0	ENST00000367467.3:c.814A>G	p.Arg272Gly	p.R272G	ENST00000367467	NM_015278.3	272	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS5212.1	814	RADIA|MUTECT	.	GAGTCAGAAAG	NONE	.	.	hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301	.	.	ENSP00000356437	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.584)	.	deleterious_low_confidence(0)	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,missense_variant,p.Arg272Gly,ENST00000367467,;	1289	35	35	SUCCESS
BMP5	653	.	GRCh37	6	55620459	55620459	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	17	227	0	ENST00000370830.3:c.1237C>G	p.His413Asp	p.H413D	ENST00000370830	NM_021073.2	413	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS4958.1	1237	MUTECT|MUSE	.	TACGTGGTCAG	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000359866	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.19)	.	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,missense_variant,p.His413Asp,ENST00000370830,;BMP5,missense_variant,p.His376Asp,ENST00000446683,;	1936	227	245	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72419550	72419550	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	6	132	0	ENST00000388955.4:n.1229G>A		p.*410*	ENST00000388955				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59059.1	.	MUTECT|MUSE	.	TGGCACAGGGC	NONE	.	.	.	.	.	ENSP00000378687	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,3_prime_UTR_variant,,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000446813,;POM121,downstream_gene_variant,,ENST00000257622,;POM121,downstream_gene_variant,,ENST00000434423,;POM121,downstream_gene_variant,,ENST00000358357,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000388955,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000602348,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000444583,;NSUN5P2,intron_variant,,ENST00000485741,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000457352,;	4582	132	101	SUCCESS
NSUN5P1	155400	.	GRCh37	7	75045350	75045350	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	79	0	ENST00000393633.2:n.4161G>A		p.*1387*	ENST00000393633				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47617.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGTGCCA	NONE	.	719	.	.	.	ENSP00000414208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453279	Transcript	.	.	ENSG00000135213	34005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P121C_HUMAN	POM121C	HGNC	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN	.	UPI00001C1E87	SNV	POM121C,downstream_gene_variant,,ENST00000453279,;POM121C,downstream_gene_variant,,ENST00000257665,;NSUN5P1,non_coding_transcript_exon_variant,,ENST00000393633,;NSUN5P1,non_coding_transcript_exon_variant,,ENST00000455158,;NSUN5P1,non_coding_transcript_exon_variant,,ENST00000428392,;NSUN5P1,non_coding_transcript_exon_variant,,ENST00000457988,;NSUN5P1,intron_variant,,ENST00000422386,;NSUN5P1,downstream_gene_variant,,ENST00000473960,;NSUN5P1,downstream_gene_variant,,ENST00000464979,;POM121C,downstream_gene_variant,,ENST00000476072,;NSUN5P1,non_coding_transcript_exon_variant,,ENST00000427550,;NSUN5P1,non_coding_transcript_exon_variant,,ENST00000421140,;	.	79	60	SUCCESS
MRPS28	28957	.	GRCh37	8	80942420	80942420	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	39	0	ENST00000276585.4:c.64T>C	p.Phe22Leu	p.F22L	ENST00000276585	NM_014018.2	22	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS6226.1	64	RADIA|MUTECT|MUSE	.	GAAGAAGAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13447:SF1,hmmpanther:PTHR13447	.	.	ENSP00000276585	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000276585	Transcript	.	.	ENSG00000147586	14513	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.29)	.	RT28_HUMAN	MRPS28	HGNC	E5RGC7_HUMAN	.	UPI00001352A5	SNV	MRPS28,missense_variant,p.Phe22Leu,ENST00000521605,;MRPS28,missense_variant,p.Phe22Leu,ENST00000276585,;MRPS28,missense_variant,p.Phe17Leu,ENST00000518271,;TPD52,intron_variant,,ENST00000537855,;MRPS28,upstream_gene_variant,,ENST00000519120,;MRPS28,upstream_gene_variant,,ENST00000521434,;TPD52,downstream_gene_variant,,ENST00000379096,;MRPS28,upstream_gene_variant,,ENST00000519386,;MRPS28,upstream_gene_variant,,ENST00000520946,;RP11-92K15.3,downstream_gene_variant,,ENST00000607017,;MRPS28,non_coding_transcript_exon_variant,,ENST00000522987,;	87	39	34	SUCCESS
ZBTB10	65986	.	GRCh37	8	81412242	81412243	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	64	0	ENST00000430430.1:c.1492dup	p.Ile498AsnfsTer16	p.I498Nfs*16	ENST00000430430		496	caa/cAaa	0	.	.	.	.	.	A	Q/QX	protein_coding	YES	CCDS47880.1	1486-1487	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGATCAAAAA	NONE	.	.	hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27	.	.	ENSP00000387462	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000430430	Transcript	.	.	ENSG00000205189	30953	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBT10_HUMAN	ZBTB10	HGNC	.	.	UPI0000E5AEF3	insertion	ZBTB10,frameshift_variant,p.Ile498AsnfsTer16,ENST00000430430,;ZBTB10,frameshift_variant,p.Ile498AsnfsTer16,ENST00000426744,;ZBTB10,frameshift_variant,p.Ile498AsnfsTer16,ENST00000455036,;ZBTB10,frameshift_variant,p.Ile206AsnfsTer16,ENST00000379091,;	2265-2266	64	109	SUCCESS
C9orf84	0	.	GRCh37	9	114462240	114462240	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	58	0	ENST00000374287.3:c.2985T>C	p.Asp995=	p.D995=	ENST00000374287		995	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS6781.3	2985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACATCCAG	NONE	.	.	.	.	.	ENSP00000363405	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000374287	Transcript	.	.	ENSG00000165181	26535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI084_HUMAN	C9orf84	HGNC	.	.	UPI0000458916	SNV	C9orf84,synonymous_variant,p.%3D,ENST00000318737,;C9orf84,synonymous_variant,p.%3D,ENST00000374287,;C9orf84,synonymous_variant,p.%3D,ENST00000394779,;C9orf84,synonymous_variant,p.%3D,ENST00000394777,;	3246	58	45	SUCCESS
AKNA	80709	.	GRCh37	9	117122236	117122236	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	66	0	ENST00000307564.4:c.2231del	p.Leu744ArgfsTer25	p.L744Rfs*25	ENST00000307564	NM_030767.4	744	cTg/cg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS6805.1	2231	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGCCAGGGGG	NONE	.	.	hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510	.	.	ENSP00000303769	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000307564	Transcript	.	.	ENSG00000106948	24108	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKNA_HUMAN	AKNA	HGNC	.	.	UPI000021168C	deletion	AKNA,frameshift_variant,p.Leu744ArgfsTer25,ENST00000307564,;AKNA,frameshift_variant,p.Leu744ArgfsTer25,ENST00000312033,;AKNA,frameshift_variant,p.Leu744ArgfsTer25,ENST00000374088,;AKNA,frameshift_variant,p.Leu204ArgfsTer25,ENST00000223791,;AKNA,frameshift_variant,p.Leu663ArgfsTer25,ENST00000374075,;AKNA,upstream_gene_variant,,ENST00000490767,;	2393	66	47	SUCCESS
PTGES	9536	.	GRCh37	9	132502105	132502105	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	75	0	ENST00000340607.4:c.244T>A	p.Phe82Ile	p.F82I	ENST00000340607	NM_004878.4	82	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS6927.1	244	MUTECT|MUSE	.	AAGGAAGGGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10689,hmmpanther:PTHR10689:SF2,Gene3D:1.20.120.550,Pfam_domain:PF01124,Superfamily_domains:SSF161084	.	.	ENSP00000342385	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340607	Transcript	.	.	ENSG00000148344	9599	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTGES_HUMAN	PTGES	HGNC	.	.	UPI00001328DD	SNV	PTGES,missense_variant,p.Phe82Ile,ENST00000340607,;PTGES,non_coding_transcript_exon_variant,,ENST00000481476,;AL590369.1,upstream_gene_variant,,ENST00000435588,;	279	75	46	SUCCESS
RXRA	6256	.	GRCh37	9	137326002	137326002	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs901061760	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	28	0	ENST00000481739.1:c.1190A>G	p.Tyr397Cys	p.Y397C	ENST00000481739	NM_002957.4	397	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS35172.1	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GGTCTATGCGT	NONE	.	.	Prints_domain:PR00545,Superfamily_domains:SSF48508,SMART_domains:SM00430,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	9/10	.	.	.	.	.	.	.	.	COSM72513	9/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Tyr397Cys,ENST00000481739,;RXRA,missense_variant,p.Tyr300Cys,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;	1242	28	14	SUCCESS
C9orf57	138240	.	GRCh37	9	74667237	74667237	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	84	0	ENST00000377024.3:c.461G>T	p.Cys154Phe	p.C154F	ENST00000377024	NM_001128618.1	154	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS47980.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGCAGCAG	NONE	.	.	hmmpanther:PTHR17571	.	.	ENSP00000366223	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377024	Transcript	.	.	ENSG00000204669	27037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	CI057_HUMAN	C9orf57	HGNC	.	.	UPI0000160595	SNV	C9orf57,missense_variant,p.Cys154Phe,ENST00000377024,;C9orf57,missense_variant,p.Cys120Phe,ENST00000424431,;	557	84	76	SUCCESS
MID2	11043	.	GRCh37	X	107084301	107084301	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	79	0	ENST00000262843.6:c.406C>T	p.Arg136Ter	p.R136*	ENST00000262843	NM_052817.2	136	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS14532.2	406	RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGCGAATT	NONE	.	.	hmmpanther:PTHR24103:SF319,hmmpanther:PTHR24103,SMART_domains:SM00336	.	.	ENSP00000262843	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000262843	Transcript	.	.	ENSG00000080561	7096	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRIM1_HUMAN	MID2	HGNC	A6PVI4_HUMAN	.	UPI0000D4F411	SNV	MID2,stop_gained,p.Arg116Ter,ENST00000451923,;MID2,stop_gained,p.Arg136Ter,ENST00000262843,;MID2,stop_gained,p.Arg136Ter,ENST00000443968,;	954	79	69	SUCCESS
AMMECR1	9949	.	GRCh37	X	109444278	109444278	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	93	0	ENST00000262844.5:c.791G>A	p.Gly264Glu	p.G264E	ENST00000262844	NM_015365.2	264	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS14551.1	791	RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCCTGTA	NONE	.	.	PROSITE_profiles:PS51112,hmmpanther:PTHR13016:SF2,hmmpanther:PTHR13016,Gene3D:1vajA02,Pfam_domain:PF01871,TIGRFAM_domain:TIGR00296,Superfamily_domains:SSF143447	.	.	ENSP00000262844	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000262844	Transcript	.	.	ENSG00000101935	467	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.836)	.	tolerated(0.09)	.	AMMR1_HUMAN	AMMECR1	HGNC	.	.	UPI000006E66F	SNV	AMMECR1,missense_variant,p.Gly264Glu,ENST00000262844,;AMMECR1,missense_variant,p.Gly141Glu,ENST00000372057,;AMMECR1,missense_variant,p.Gly227Glu,ENST00000372059,;	959	93	69	SUCCESS
CXorf67	0	.	GRCh37	X	51149824	51149824	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs782675858	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	58	0	ENST00000342995.2:c.-45G>T		p.*15*	ENST00000342995				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGAAGTA	NONE	.	.	.	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	rs782675858	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,5_prime_UTR_variant,,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	58	58	33	SUCCESS
ITIH6	347365	.	GRCh37	X	54785172	54785172	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	113	0	ENST00000218436.6:c.1335C>T	p.Asn445=	p.N445=	ENST00000218436	NM_198510.2	445	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS14361.1	1335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGGTTTTC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000218436	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,synonymous_variant,p.%3D,ENST00000218436,;	1365	113	73	SUCCESS
ZXDA	7789	.	GRCh37	X	57936066	57936066	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	35	0	ENST00000358697.4:c.789C>T	p.Gly263=	p.G263=	ENST00000358697	NM_007156.4	263	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS14376.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACGCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF72,hmmpanther:PTHR19818	.	.	ENSP00000351530	.	1/1	.	.	.	.	.	.	.	.	COSM3780530	1/1	PASS	ENST00000358697	Transcript	.	.	ENSG00000198205	13198	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZXDA_HUMAN	ZXDA	HGNC	.	.	UPI000013C494	SNV	ZXDA,synonymous_variant,p.%3D,ENST00000358697,;	1002	35	33	SUCCESS
TNMD	64102	.	GRCh37	X	99839924	99839924	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	12	152	0	ENST00000373031.4:c.-92G>A		p.*31*	ENST00000373031	NM_022144.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14469.1	.	MUTECT|MUSE	.	CTCTGGCATCT	NONE	.	.	.	.	.	ENSP00000362122	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000373031	Transcript	.	.	ENSG00000000005	17757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNMD_HUMAN	TNMD	HGNC	.	.	UPI0000001042	SNV	TNMD,5_prime_UTR_variant,,ENST00000373031,;	126	152	108	SUCCESS
PCDH15	65217	.	GRCh37	10	56129002	56129002	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs929285864	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	80	0	ENST00000320301.6:c.352G>C	p.Val118Leu	p.V118L	ENST00000320301	NM_033056.3	118	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS44404.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACCTGCA	NONE	.	.	SMART_domains:SM00112	.	.	ENSP00000354950	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.24)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Val118Leu,ENST00000437009,;PCDH15,missense_variant,p.Val96Leu,ENST00000395433,;PCDH15,missense_variant,p.Val118Leu,ENST00000395445,;PCDH15,missense_variant,p.Val118Leu,ENST00000320301,;PCDH15,missense_variant,p.Val118Leu,ENST00000395432,;PCDH15,missense_variant,p.Val118Leu,ENST00000373955,;PCDH15,missense_variant,p.Val96Leu,ENST00000373957,;PCDH15,missense_variant,p.Val118Leu,ENST00000395440,;PCDH15,missense_variant,p.Val118Leu,ENST00000361849,;PCDH15,missense_variant,p.Val118Leu,ENST00000395438,;PCDH15,missense_variant,p.Val118Leu,ENST00000395446,;PCDH15,missense_variant,p.Val118Leu,ENST00000395442,;PCDH15,missense_variant,p.Val123Leu,ENST00000414778,;PCDH15,missense_variant,p.Val118Leu,ENST00000373965,;PCDH15,missense_variant,p.Val118Leu,ENST00000395430,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Val118Leu,ENST00000448885,;PCDH15,missense_variant,p.Val118Leu,ENST00000414367,;PCDH15,intron_variant,,ENST00000373956,;	747	80	69	SUCCESS
MYOF	26509	.	GRCh37	10	95161196	95161196	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs199504349	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	50	0	ENST00000359263.4:c.1096C>T	p.Arg366Ter	p.R366*	ENST00000359263	NM_013451.3	366	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS41551.1	1096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGGTAGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000352208	.	12/54	.	.	.	.	.	.	.	.	rs199504349	12/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,stop_gained,p.Arg366Ter,ENST00000371502,;MYOF,stop_gained,p.Arg366Ter,ENST00000358334,;MYOF,stop_gained,p.Arg366Ter,ENST00000371489,;MYOF,stop_gained,p.Arg366Ter,ENST00000371501,;MYOF,stop_gained,p.Arg366Ter,ENST00000359263,;	1096	50	89	SUCCESS
PLCE1	51196	.	GRCh37	10	96084287	96084287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	57	0	ENST00000260766.3:c.6683C>A	p.Ala2228Glu	p.A2228E	ENST00000260766	NM_016341.3	2228	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS41552.1	6683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCAGGAA	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00314,Pfam_domain:PF00788,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6,PROSITE_profiles:PS50200	.	.	ENSP00000360431	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,missense_variant,p.Ala2228Glu,ENST00000371380,;PLCE1,missense_variant,p.Ala2228Glu,ENST00000260766,;PLCE1,missense_variant,p.Ala1920Glu,ENST00000371375,;PLCE1,missense_variant,p.Ala1920Glu,ENST00000371385,;NOC3L,intron_variant,,ENST00000543788,;PLCE1,upstream_gene_variant,,ENST00000464214,;	6918	57	51	SUCCESS
MUC5B	727897	.	GRCh37	11	1266818	1266818	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs535181655	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	23	1	ENST00000529681.1:c.8708C>T	p.Ala2903Val	p.A2903V	ENST00000529681	NM_002458.2	2903	gCg/gTg	0	.	T:0	.	T:0.0014	.	T	A/V	protein_coding	YES	CCDS44515.2	8708	SOMATICSNIPER|VARSCANS	.	CCGTGCGGCCG	NONE	by1000G	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	T:0	.	ENSP00000436812	T:0	31/49	.	.	.	.	.	.	.	.	rs535181655	31/49	PASS	ENST00000529681	Transcript	.	T:0.0002	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	T:0	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ala2903Val,ENST00000529681,;MUC5B,missense_variant,p.Ala2906Val,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	8766	24	27	SUCCESS
PSMD13	5719	.	GRCh37	11	251919	251919	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761963967	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	8	112	0	ENST00000532097.1:c.1018G>C	p.Val340Leu	p.V340L	ENST00000532097	NM_002817.3	340	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS44504.1	1024	MUTECT|MUSE	.	CCCGAGTGTTG	NONE	.	.	hmmpanther:PTHR10539,SMART_domains:SM00088	.	.	ENSP00000396937	.	10/11	.	.	.	.	.	.	.	.	rs761963967	10/11	PASS	ENST00000431206	Transcript	.	.	ENSG00000185627	9558	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.654)	.	deleterious(0.04)	.	PSD13_HUMAN	PSMD13	HGNC	Q9UNM7_HUMAN	.	UPI00003E5E1D	SNV	PSMD13,missense_variant,p.Val340Leu,ENST00000532097,;PSMD13,missense_variant,p.Val313Leu,ENST00000352303,;PSMD13,missense_variant,p.Val342Leu,ENST00000431206,;PSMD13,intron_variant,,ENST00000526783,;PSMD13,downstream_gene_variant,,ENST00000528906,;PSMD13,non_coding_transcript_exon_variant,,ENST00000532025,;PSMD13,3_prime_UTR_variant,,ENST00000382671,;PSMD13,3_prime_UTR_variant,,ENST00000525665,;PSMD13,non_coding_transcript_exon_variant,,ENST00000529679,;PSMD13,non_coding_transcript_exon_variant,,ENST00000527982,;PSMD13,downstream_gene_variant,,ENST00000527047,;PSMD13,downstream_gene_variant,,ENST00000533717,;PSMD13,downstream_gene_variant,,ENST00000529372,;PSMD13,downstream_gene_variant,,ENST00000534590,;	1097	112	170	SUCCESS
RIN1	9610	.	GRCh37	11	66103889	66103889	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs201184971	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	52	0	ENST00000311320.4:c.-16G>A		p.*6*	ENST00000311320	NM_004292.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS31614.1	.	MUTECT|MUSE	.	TCCTTCGCTTC	NONE	byFrequency|byCluster|by1000G	.	.	T:0.004	.	ENSP00000310406	T:0	1/10	.	.	.	.	.	.	.	.	rs201184971	1/10	PASS	ENST00000311320	Transcript	.	T:0.0008	ENSG00000174791	18749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RIN1_HUMAN	RIN1	HGNC	.	.	UPI000013F14D	SNV	RIN1,5_prime_UTR_variant,,ENST00000311320,;RIN1,intron_variant,,ENST00000530056,;BRMS1,downstream_gene_variant,,ENST00000425825,;RIN1,upstream_gene_variant,,ENST00000424433,;BRMS1,downstream_gene_variant,,ENST00000359957,;BRMS1,downstream_gene_variant,,ENST00000524699,;BRMS1,downstream_gene_variant,,ENST00000530756,;RP11-867G23.12,non_coding_transcript_exon_variant,,ENST00000526655,;RIN1,upstream_gene_variant,,ENST00000524804,;RIN1,5_prime_UTR_variant,,ENST00000530745,;RIN1,upstream_gene_variant,,ENST00000534824,;RIN1,upstream_gene_variant,,ENST00000526246,;BRMS1,downstream_gene_variant,,ENST00000534617,;RIN1,upstream_gene_variant,,ENST00000528006,;BRMS1,downstream_gene_variant,,ENST00000527375,;BRMS1,downstream_gene_variant,,ENST00000525127,;BRMS1,downstream_gene_variant,,ENST00000530238,;	112	52	41	SUCCESS
DCHS1	8642	.	GRCh37	11	6655134	6655134	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	99	0	ENST00000299441.3:c.2104A>G	p.Thr702Ala	p.T702A	ENST00000299441	NM_003737.2	702	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7771.1	2104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGTGCCTG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Thr702Ala,ENST00000299441,;RP11-732A19.6,intron_variant,,ENST00000526633,;	2516	99	112	SUCCESS
FADD	8772	.	GRCh37	11	70049591	70049591	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	47	0	ENST00000301838.4:c.26A>G	p.His9Arg	p.H9R	ENST00000301838	NM_003824.3	9	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS8196.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACTCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50168,hmmpanther:PTHR15077,Gene3D:1.10.533.10,Pfam_domain:PF01335,PIRSF_domain:PIRSF018586,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000301838	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000301838	Transcript	.	.	ENSG00000168040	3573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	deleterious(0)	.	FADD_HUMAN	FADD	HGNC	Q6LCG1_HUMAN,Q6LCB0_HUMAN	.	UPI000012A4D1	SNV	FADD,missense_variant,p.His9Arg,ENST00000301838,;RP11-805J14.5,downstream_gene_variant,,ENST00000527232,;RP11-805J14.5,downstream_gene_variant,,ENST00000526174,;	323	48	49	SUCCESS
LRTOMT	220074	.	GRCh37	11	71806552	71806552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	97	1	ENST00000289488.2:c.565C>A	p.Gln189Lys	p.Q189K	ENST00000289488	NM_001271471.2	189	Cag/Aag	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44668.1	.	MUTECT|MUSE	.	CCAAGCAGAAT	NONE	.	.	.	.	.	ENSP00000409789	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,missense_variant,p.Gln189Lys,ENST00000289488,;LRTOMT,missense_variant,p.Gln189Lys,ENST00000538478,;LRTOMT,missense_variant,p.Gln171Lys,ENST00000423494,;LRTOMT,3_prime_UTR_variant,,ENST00000324866,;LRTOMT,3_prime_UTR_variant,,ENST00000539587,;LRTOMT,intron_variant,,ENST00000440313,;LRTOMT,intron_variant,,ENST00000439209,;LRTOMT,intron_variant,,ENST00000435085,;LRTOMT,intron_variant,,ENST00000541614,;LRTOMT,intron_variant,,ENST00000307198,;LRTOMT,intron_variant,,ENST00000447974,;LAMTOR1,intron_variant,,ENST00000545249,;LRTOMT,intron_variant,,ENST00000419228,;LAMTOR1,intron_variant,,ENST00000535107,;LRTOMT,downstream_gene_variant,,ENST00000539271,;LAMTOR1,downstream_gene_variant,,ENST00000278671,;LRTOMT,downstream_gene_variant,,ENST00000538413,;LRTOMT,downstream_gene_variant,,ENST00000542846,;LAMTOR1,downstream_gene_variant,,ENST00000544594,;LRTOMT,downstream_gene_variant,,ENST00000536917,;LAMTOR1,downstream_gene_variant,,ENST00000538404,;LAMTOR1,downstream_gene_variant,,ENST00000539797,;LRTOMT,3_prime_UTR_variant,,ENST00000535883,;LRTOMT,intron_variant,,ENST00000544409,;LRTOMT,intron_variant,,ENST00000427369,;LAMTOR1,downstream_gene_variant,,ENST00000535872,;LRTOMT,downstream_gene_variant,,ENST00000412777,;LAMTOR1,downstream_gene_variant,,ENST00000541403,;	.	98	84	SUCCESS
GAS2L3	283431	.	GRCh37	12	101017478	101017478	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	67	0	ENST00000266754.5:c.895G>T	p.Val299Phe	p.V299F	ENST00000266754		299	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9079.1	895	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AAGGAGTTTCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF256	.	.	ENSP00000439672	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000539410	Transcript	.	.	ENSG00000139354	27475	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.361)	.	deleterious(0.04)	.	GA2L3_HUMAN	GAS2L3	HGNC	H0YIT6_HUMAN,G3V1N3_HUMAN,F8VSB7_HUMAN	.	UPI000000DA3B	SNV	GAS2L3,missense_variant,p.Val299Phe,ENST00000539410,;GAS2L3,missense_variant,p.Val299Phe,ENST00000266754,;GAS2L3,missense_variant,p.Val195Phe,ENST00000537247,;GAS2L3,missense_variant,p.Val299Phe,ENST00000547754,;GAS2L3,upstream_gene_variant,,ENST00000552854,;	1281	67	59	SUCCESS
STAB2	55576	.	GRCh37	12	104060114	104060114	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147674384	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	105	0	ENST00000388887.2:c.2068G>A	p.Ala690Thr	p.A690T	ENST00000388887	NM_017564.9	690	Gct/Act	0	A:0.0002	.	.	.	.	A	A/T	protein_coding	YES	CCDS31888.1	2068	MUTECT|MUSE	.	GTCCTGCTAAC	NONE	.	.	hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038	.	A:0	ENSP00000373539	.	19/69	.	.	.	.	.	.	.	.	rs147674384	19/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.36)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Ala690Thr,ENST00000388887,;RP11-341G23.3,downstream_gene_variant,,ENST00000550175,;	2272	105	122	SUCCESS
SRRM4	84530	.	GRCh37	12	119563215	119563215	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs550204730	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	60	0	ENST00000267260.4:c.545G>A	p.Arg182His	p.R182H	ENST00000267260	NM_194286.3	182	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS44994.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCGCCACC	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000267260	A:0	7/13	.	.	.	.	.	.	.	.	rs550204730,COSM202143	7/13	PASS	ENST00000267260	Transcript	.	A:0.0002	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	A:0.001	tolerated_low_confidence(0.08)	0,1	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Arg182His,ENST00000267260,;SRRM4,non_coding_transcript_exon_variant,,ENST00000545224,;SRRM4,non_coding_transcript_exon_variant,,ENST00000537597,;	933	60	67	SUCCESS
SBNO1	55206	.	GRCh37	12	123782650	123782650	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	39	98	0	ENST00000420886.2:c.3914A>T	p.Tyr1305Phe	p.Y1305F	ENST00000420886	NM_001167856.1	1305	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS53844.1	3914	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACATAATAT	NONE	.	.	hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8	.	.	ENSP00000387361	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000420886	Transcript	.	.	ENSG00000139697	22973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.41)	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,missense_variant,p.Tyr1305Phe,ENST00000602398,;SBNO1,missense_variant,p.Tyr1304Phe,ENST00000602750,;SBNO1,missense_variant,p.Tyr1305Phe,ENST00000420886,;SBNO1,missense_variant,p.Tyr1304Phe,ENST00000267176,;	3914	98	126	SUCCESS
GOLT1B	51026	.	GRCh37	12	21665265	21665265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	48	0	ENST00000229314.5:c.333A>T	p.Arg111Ser	p.R111S	ENST00000229314	NM_016072.4	111	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS8689.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAGTGCC	NONE	.	.	hmmpanther:PTHR21493,Pfam_domain:PF04178	.	.	ENSP00000229314	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000229314	Transcript	.	.	ENSG00000111711	20175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	GOT1B_HUMAN	GOLT1B	HGNC	G3V1U5_HUMAN	.	UPI0000048ED8	SNV	GOLT1B,missense_variant,p.Arg111Ser,ENST00000540141,;GOLT1B,missense_variant,p.Arg111Ser,ENST00000229314,;GOLT1B,missense_variant,p.Arg47Ser,ENST00000542038,;GOLT1B,non_coding_transcript_exon_variant,,ENST00000545093,;GOLT1B,non_coding_transcript_exon_variant,,ENST00000535593,;GOLT1B,3_prime_UTR_variant,,ENST00000539025,;GOLT1B,3_prime_UTR_variant,,ENST00000539663,;GOLT1B,3_prime_UTR_variant,,ENST00000542194,;	442	48	77	SUCCESS
KRT79	338785	.	GRCh37	12	53225247	53225247	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	85	0	ENST00000330553.5:c.641G>A	p.Gly214Glu	p.G214E	ENST00000330553	NM_175834.2	214	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS8839.1	641	MUTECT|MUSE	.	GCCTCCCCCGC	NONE	.	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000328358	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.192)	.	tolerated(0.21)	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,missense_variant,p.Gly214Glu,ENST00000330553,;KRT79,upstream_gene_variant,,ENST00000546453,;	676	85	92	SUCCESS
VEZT	55591	.	GRCh37	12	95676231	95676231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	29	97	1	ENST00000436874.1:c.1139G>T	p.Gly380Val	p.G380V	ENST00000436874	NM_017599.3	380	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44954.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGTCTAC	NONE	.	.	Pfam_domain:PF12632,hmmpanther:PTHR15989:SF5,hmmpanther:PTHR15989	.	.	ENSP00000410083	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000436874	Transcript	.	.	ENSG00000028203	18258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	VEZA_HUMAN	VEZT	HGNC	.	.	UPI00001FB2EC	SNV	VEZT,missense_variant,p.Gly336Val,ENST00000397792,;VEZT,missense_variant,p.Gly332Val,ENST00000261219,;VEZT,missense_variant,p.Gly380Val,ENST00000436874,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000546398,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,intron_variant,,ENST00000551695,;VEZT,3_prime_UTR_variant,,ENST00000547611,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,non_coding_transcript_exon_variant,,ENST00000552827,;VEZT,non_coding_transcript_exon_variant,,ENST00000549192,;VEZT,intron_variant,,ENST00000548371,;VEZT,intron_variant,,ENST00000548838,;CBX3P5,downstream_gene_variant,,ENST00000552017,;	1244	98	132	SUCCESS
NEDD1	121441	.	GRCh37	12	97301333	97301333	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	53	0	ENST00000266742.4:c.-261-49A>G		p.*87*	ENST00000266742	NM_152905.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44955.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCACAAGT	NONE	.	.	.	.	.	ENSP00000451211	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000557644	Transcript	.	.	ENSG00000139350	7723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NEDD1	HGNC	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V3F1_HUMAN,G3V2V3_HUMAN,G3V2M9_HUMAN	.	UPI000004D249	SNV	NEDD1,5_prime_UTR_variant,,ENST00000557644,;NEDD1,intron_variant,,ENST00000554226,;NEDD1,intron_variant,,ENST00000411739,;NEDD1,intron_variant,,ENST00000553609,;NEDD1,intron_variant,,ENST00000266742,;NEDD1,intron_variant,,ENST00000429527,;NEDD1,intron_variant,,ENST00000557478,;NEDD1,intron_variant,,ENST00000557092,;NEDD1,intron_variant,,ENST00000557454,;NEDD1,intron_variant,,ENST00000557400,;NEDD1,intron_variant,,ENST00000555114,;NEDD1,intron_variant,,ENST00000555806,;EEF1A1P33,upstream_gene_variant,,ENST00000554413,;	90	53	71	SUCCESS
ZAR1L	646799	.	GRCh37	13	32878064	32878064	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	97	0	ENST00000345108.6:c.918C>G	p.Asp306Glu	p.D306E	ENST00000345108	NM_001136571.1	306	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS45023.1	918	MUTECT|MUSE	.	CTCTTGTCTTT	NONE	.	.	hmmpanther:PTHR31054:SF4,hmmpanther:PTHR31054,Pfam_domain:PF13695	.	.	ENSP00000437289	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000533490	Transcript	.	.	ENSG00000189167	37116	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.55)	.	tolerated(0.14)	.	ZAR1L_HUMAN	ZAR1L	HGNC	.	.	UPI00006C1387	SNV	ZAR1L,missense_variant,p.Asp306Glu,ENST00000345108,;ZAR1L,missense_variant,p.Asp306Glu,ENST00000533490,;	1337	97	79	SUCCESS
MRPS31P5	100887750	.	GRCh37	13	52768353	52768353	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	12	0	ENST00000416599.1:n.248T>A		p.*83*	ENST00000416599				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCCCGAGGACC	NONE	.	.	.	.	.	.	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000416599	Transcript	.	.	ENSG00000243406	39253	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MRPS31P5	HGNC	.	.	.	SNV	MRPS31P5,non_coding_transcript_exon_variant,,ENST00000416599,;MRPS31P5,intron_variant,,ENST00000606619,;RP11-248G5.8,intron_variant,,ENST00000451298,;MRPS31P5,intron_variant,,ENST00000606974,;MRPS31P5,splice_region_variant,,ENST00000423686,;	248	12	14	SUCCESS
MAGEL2	54551	.	GRCh37	15	23889752	23889752	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750090677	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	170	0	ENST00000532292.1:c.1329G>T	p.Met443Ile	p.M443I	ENST00000532292	NM_019066.4	443	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	1329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCATCTC	NONE	byFrequency	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	rs750090677	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	tolerated(0.09)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Met443Ile,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	1424	170	171	SUCCESS
MIR211	406993	.	GRCh37	15	31357301	31357301	+	mature_miRNA_variant	RNA	SNP	C	C	A	rs187960998	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	46	0	ENST00000384969.1:n.44G>T		p.*15*	ENST00000384969				0	T:0.0003	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS58347.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGCGAAGG	NONE	byCluster|by1000G	.	.	T:0.001	T:0	ENSP00000437849	T:0	.	.	.	.	.	.	.	.	.	rs187960998	.	PASS	ENST00000542188	Transcript	1	T:0.0002	ENSG00000134160	7146	.	.	MODIFIER	6/26	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,intron_variant,,ENST00000558445,;TRPM1,intron_variant,,ENST00000542188,;TRPM1,intron_variant,,ENST00000558768,;TRPM1,intron_variant,,ENST00000256552,;TRPM1,intron_variant,,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;TRPM1,downstream_gene_variant,,ENST00000559179,;MIR211,mature_miRNA_variant,,ENST00000384969,;TRPM1,intron_variant,,ENST00000560801,;TRPM1,intron_variant,,ENST00000560658,;TRPM1,upstream_gene_variant,,ENST00000558070,;	.	46	57	SUCCESS
SCG3	29106	.	GRCh37	15	51975586	51975586	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775852158	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	25	0	ENST00000220478.3:c.352G>A	p.Asp118Asn	p.D118N	ENST00000220478	NM_013243.3	118	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10142.1	352	RADIA|MUSE	.	TGATCGATGAT	NONE	byFrequency	.	Pfam_domain:PF15467,hmmpanther:PTHR17388,hmmpanther:PTHR17388:SF2	.	.	ENSP00000220478	.	4/12	.	.	.	.	.	.	.	.	rs775852158,COSM121014	4/12	PASS	ENST00000220478	Transcript	.	.	ENSG00000104112	13707	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.871)	.	deleterious_low_confidence(0)	0,1	SCG3_HUMAN	SCG3	HGNC	H0YKC2_HUMAN	.	UPI0000038A09	SNV	SCG3,missense_variant,p.Asp118Asn,ENST00000220478,;SCG3,5_prime_UTR_variant,,ENST00000542355,;SCG3,5_prime_UTR_variant,,ENST00000558709,;	755	25	35	SUCCESS
GRAMD2	0	.	GRCh37	15	72455767	72455767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	66	0	ENST00000309731.7:c.796C>T	p.Pro266Ser	p.P266S	ENST00000309731	NM_001012642.2	266	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32283.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGCCATG	NONE	.	.	hmmpanther:PTHR23319:SF7,hmmpanther:PTHR23319	.	.	ENSP00000311657	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000309731	Transcript	.	.	ENSG00000175318	27287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.62)	.	GRAM2_HUMAN	GRAMD2	HGNC	B4E188_HUMAN	.	UPI00001FE7DE	SNV	GRAMD2,missense_variant,p.Pro266Ser,ENST00000309731,;GRAMD2,downstream_gene_variant,,ENST00000564129,;GRAMD2,downstream_gene_variant,,ENST00000570275,;GRAMD2,downstream_gene_variant,,ENST00000568594,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564184,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000565233,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567662,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567029,;GRAMD2,intron_variant,,ENST00000564773,;GRAMD2,downstream_gene_variant,,ENST00000567637,;GRAMD2,downstream_gene_variant,,ENST00000562288,;	810	66	101	SUCCESS
CHD2	1106	.	GRCh37	15	93499777	93499777	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	46	0	ENST00000394196.4:c.1898T>C	p.Leu633Pro	p.L633P	ENST00000394196	NM_001271.3	633	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS10374.2	1898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTGATTG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000377747	.	16/39	.	.	.	.	.	.	.	.	.	16/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Leu633Pro,ENST00000557381,;CHD2,missense_variant,p.Leu633Pro,ENST00000394196,;CHD2,non_coding_transcript_exon_variant,,ENST00000555582,;	2966	46	43	SUCCESS
NETO2	81831	.	GRCh37	16	47117548	47117548	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749831838	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	77	0	ENST00000562435.1:c.1162G>C	p.Gly388Arg	p.G388R	ENST00000562435	NM_018092.4	388	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS10727.1	1162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCCGGTTT	NONE	byFrequency	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF314	.	.	ENSP00000455169	.	9/9	.	.	.	.	.	.	.	.	rs749831838	9/9	PASS	ENST00000562435	Transcript	.	.	ENSG00000171208	14644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	tolerated(0.44)	.	NETO2_HUMAN	NETO2	HGNC	.	.	UPI000003C718	SNV	NETO2,missense_variant,p.Gly388Arg,ENST00000562435,;NETO2,missense_variant,p.Gly381Arg,ENST00000303155,;NETO2,missense_variant,p.Gly91Arg,ENST00000564667,;NETO2,missense_variant,p.Gly187Arg,ENST00000563078,;NETO2,missense_variant,p.Gly228Arg,ENST00000562559,;	1547	77	51	SUCCESS
RANBP10	57610	.	GRCh37	16	67839340	67839340	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	56	0	ENST00000317506.3:c.338del	p.Gly113GlufsTer8	p.G113Efs*8	ENST00000317506	NM_020850.1	113	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32469.1	338	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCTTCCTTTG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR12864,PROSITE_profiles:PS50188,hmmpanther:PTHR12864:SF17	.	.	ENSP00000316589	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000317506	Transcript	.	.	ENSG00000141084	29285	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBP10_HUMAN	RANBP10	HGNC	B3KP49_HUMAN	.	UPI00001C1FA6	deletion	RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000317506,;RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000602677,;RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000448631,;RANBP10,5_prime_UTR_variant,,ENST00000536251,;RANBP10,5_prime_UTR_variant,,ENST00000425512,;RANBP10,intron_variant,,ENST00000411657,;TSNAXIP1,upstream_gene_variant,,ENST00000431934,;TSNAXIP1,upstream_gene_variant,,ENST00000388833,;TSNAXIP1,upstream_gene_variant,,ENST00000567852,;TSNAXIP1,upstream_gene_variant,,ENST00000415766,;TSNAXIP1,upstream_gene_variant,,ENST00000561639,;TSNAXIP1,upstream_gene_variant,,ENST00000561654,;TSNAXIP1,upstream_gene_variant,,ENST00000565148,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602887,;TSNAXIP1,upstream_gene_variant,,ENST00000562321,;RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000602506,;RANBP10,frameshift_variant,p.Gly113GlufsTer182,ENST00000602638,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602525,;RANBP10,intron_variant,,ENST00000602815,;TSNAXIP1,upstream_gene_variant,,ENST00000569504,;TSNAXIP1,upstream_gene_variant,,ENST00000562633,;TSNAXIP1,upstream_gene_variant,,ENST00000565339,;TSNAXIP1,upstream_gene_variant,,ENST00000487120,;TSNAXIP1,upstream_gene_variant,,ENST00000466164,;TSNAXIP1,upstream_gene_variant,,ENST00000563363,;TSNAXIP1,upstream_gene_variant,,ENST00000568990,;	454	56	99	SUCCESS
HAGHL	84264	.	GRCh37	16	777559	777559	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	83	0	ENST00000341413.4:c.50T>G	p.Val17Gly	p.V17G	ENST00000341413		17	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS32354.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTCATCG	NONE	.	.	HAMAP:MF_01374,hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935,Gene3D:3.60.15.10,Pfam_domain:PF00753,TIGRFAM_domain:TIGR03413,SMART_domains:SM00849,Superfamily_domains:SSF56281	.	.	ENSP00000374353	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000389703	Transcript	.	.	ENSG00000103253	14177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HAGHL_HUMAN	HAGHL	HGNC	H3BT20_HUMAN,B4DED4_HUMAN	.	UPI00000498AB	SNV	HAGHL,missense_variant,p.Val17Gly,ENST00000564537,;HAGHL,missense_variant,p.Val17Gly,ENST00000389703,;HAGHL,missense_variant,p.Val17Gly,ENST00000561546,;HAGHL,missense_variant,p.Val17Gly,ENST00000562141,;HAGHL,missense_variant,p.Val17Gly,ENST00000564545,;HAGHL,missense_variant,p.Val17Gly,ENST00000568141,;HAGHL,missense_variant,p.Val17Gly,ENST00000341413,;HAGHL,missense_variant,p.Val17Gly,ENST00000567414,;HAGHL,missense_variant,p.Val17Gly,ENST00000549114,;FAM173A,downstream_gene_variant,,ENST00000568916,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,;FAM173A,downstream_gene_variant,,ENST00000569529,;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000301694,;CCDC78,upstream_gene_variant,,ENST00000293889,;FAM173A,downstream_gene_variant,,ENST00000564000,;HAGHL,downstream_gene_variant,,ENST00000562187,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,upstream_gene_variant,,ENST00000563792,;FAM173A,downstream_gene_variant,,ENST00000219535,;CCDC78,upstream_gene_variant,,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,non_coding_transcript_exon_variant,,ENST00000569143,;HAGHL,non_coding_transcript_exon_variant,,ENST00000561750,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;CCDC78,upstream_gene_variant,,ENST00000471861,;FAM173A,downstream_gene_variant,,ENST00000566525,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000478979,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000561561,;NARFL,downstream_gene_variant,,ENST00000566650,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;CCDC78,upstream_gene_variant,,ENST00000481804,;FAM173A,downstream_gene_variant,,ENST00000570237,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000538176,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000485091,;	289	83	112	SUCCESS
SPECC1	92521	.	GRCh37	17	20109082	20109082	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	56	0	ENST00000261503.5:c.1720A>G	p.Thr574Ala	p.T574A	ENST00000261503	NM_001033553.2	574	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS32590.1	1720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGACGGCA	NONE	.	.	hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Thr574Ala,ENST00000395527,;SPECC1,missense_variant,p.Thr493Ala,ENST00000395522,;SPECC1,missense_variant,p.Thr11Ala,ENST00000582226,;SPECC1,missense_variant,p.Thr493Ala,ENST00000395525,;SPECC1,missense_variant,p.Thr79Ala,ENST00000581399,;SPECC1,missense_variant,p.Thr574Ala,ENST00000261503,;SPECC1,missense_variant,p.Thr574Ala,ENST00000395529,;SPECC1,missense_variant,p.Thr493Ala,ENST00000395530,;SPECC1,intron_variant,,ENST00000536879,;SPECC1,downstream_gene_variant,,ENST00000583463,;SPECC1,upstream_gene_variant,,ENST00000584527,;SPECC1,downstream_gene_variant,,ENST00000581973,;SPECC1,downstream_gene_variant,,ENST00000583482,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,downstream_gene_variant,,ENST00000582063,;SPECC1,downstream_gene_variant,,ENST00000579688,;SPECC1,downstream_gene_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000467722,;	1771	56	60	SUCCESS
DNAH2	146754	.	GRCh37	17	7708380	7708380	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	91	0	ENST00000389173.2:c.9288A>G	p.Glu3096=	p.E3096=	ENST00000389173	NM_020877.2	3096	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS32551.1	9288	MUTECT|MUSE	.	CTGGAAGAGGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12777	.	.	ENSP00000458355	.	60/86	.	.	.	.	.	.	.	.	.	60/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,intron_variant,,ENST00000575105,;	10748	91	66	SUCCESS
TRAPPC8	22878	.	GRCh37	18	29419280	29419280	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	38	0	ENST00000283351.4:c.3978A>G	p.Gln1326=	p.Q1326=	ENST00000283351	NM_014939.3	1326	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS11901.1	3978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTTGATG	NONE	.	.	hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6,Pfam_domain:PF12739	.	.	ENSP00000283351	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000283351	Transcript	.	.	ENSG00000153339	29169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPPC8_HUMAN	TRAPPC8	HGNC	J3QQJ5_HUMAN,J3QKL6_HUMAN	.	UPI0000052E22	SNV	TRAPPC8,synonymous_variant,p.%3D,ENST00000582539,;TRAPPC8,synonymous_variant,p.%3D,ENST00000581057,;TRAPPC8,synonymous_variant,p.%3D,ENST00000283351,;TRAPPC8,3_prime_UTR_variant,,ENST00000580104,;	4314	38	47	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60225965	60225965	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	121	0	ENST00000269499.5:c.1454T>G	p.Leu485Ter	p.L485*	ENST00000269499	NM_017742.4	485	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS45880.1	1454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTTAAAAG	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	.	.	ENSP00000269499	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,stop_gained,p.Leu164Ter,ENST00000586834,;ZCCHC2,stop_gained,p.Leu485Ter,ENST00000269499,;ZCCHC2,intron_variant,,ENST00000591632,;ZCCHC2,stop_gained,p.Leu405Ter,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000591435,;ZCCHC2,upstream_gene_variant,,ENST00000585949,;	1872	121	119	SUCCESS
ZNF441	126068	.	GRCh37	19	11892231	11892231	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781511935	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	35	0	ENST00000357901.4:c.1592A>G	p.Tyr531Cys	p.Y531C	ENST00000357901	NM_152355.2	531	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12266.2	1592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTATAAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF22,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350576	.	4/4	.	.	.	.	.	.	.	.	rs781511935	4/4	PASS	ENST00000357901	Transcript	.	.	ENSG00000197044	20875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN441_HUMAN	ZNF441	HGNC	J3KQM6_HUMAN	.	UPI000059D677	SNV	ZNF441,missense_variant,p.Tyr531Cys,ENST00000357901,;ZNF441,missense_variant,p.Tyr464Cys,ENST00000454339,;ZNF441,3_prime_UTR_variant,,ENST00000409902,;ZNF441,downstream_gene_variant,,ENST00000462251,;	1694	35	37	SUCCESS
ZNF430	80264	.	GRCh37	19	21240807	21240807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	23	0	ENST00000261560.5:c.1693A>G	p.Arg565Gly	p.R565G	ENST00000261560	NM_025189.3	565	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS32978.1	1693	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	ACTGGAGAGAA	NONE	.	.	.	.	.	ENSP00000261560	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.35)	.	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,missense_variant,p.Arg565Gly,ENST00000261560,;ZNF430,intron_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,;AC012627.1,downstream_gene_variant,,ENST00000578233,;	1874	23	18	SUCCESS
ZNF536	9745	.	GRCh37	19	31038889	31038889	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	77	0	ENST00000355537.3:c.2363G>A	p.Gly788Asp	p.G788D	ENST00000355537	NM_014717.1	788	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32984.1	2363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGGCACGC	BUFFER|p.A787A|c.2361C>T|3,BUFFER|p.T789M|c.2366C>T|5,BUFFER|p.T789T|c.2367G>A|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly788Asp,ENST00000585628,;ZNF536,missense_variant,p.Gly788Asp,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2510	77	73	SUCCESS
PPP5C	5536	.	GRCh37	19	46850460	46850460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	32	0	ENST00000012443.4:c.107A>G	p.Asn36Ser	p.N36S	ENST00000012443	NM_006247.3	36	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12684.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAATGACT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Pfam_domain:PF13414,Gene3D:1.25.40.10,PIRSF_domain:PIRSF033096,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000012443	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,missense_variant,p.Asn36Ser,ENST00000012443,;PPP5C,5_prime_UTR_variant,,ENST00000391919,;HIF3A,downstream_gene_variant,,ENST00000377670,;HIF3A,downstream_gene_variant,,ENST00000339613,;PPP5C,missense_variant,p.Asn35Ser,ENST00000478046,;	210	32	49	SUCCESS
ZNF175	7728	.	GRCh37	19	52090484	52090484	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	32	93	0	ENST00000262259.2:c.900T>A	p.Ile300=	p.I300=	ENST00000262259	NM_007147.2	300	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12837.1	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATTCATAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF37,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000262259	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000262259	Transcript	.	.	ENSG00000105497	12964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN175_HUMAN	ZNF175	HGNC	.	.	UPI000013C30A	SNV	ZNF175,synonymous_variant,p.%3D,ENST00000262259,;ZNF175,intron_variant,,ENST00000436511,;AC018755.1,downstream_gene_variant,,ENST00000301439,;ZNF175,non_coding_transcript_exon_variant,,ENST00000600460,;	1258	93	122	SUCCESS
LILRB1	10859	.	GRCh37	19	55143640	55143640	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	63	255	0	ENST00000324602.7:c.613C>T	p.Pro205Ser	p.P205S	ENST00000324602	NM_001278399.1	205	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42614.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCCCTAT	BUFFER|p.S202S|c.606G>A|3	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000315997	.	5/15	.	.	.	.	.	.	.	.	COSM567834,COSM3538924	5/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.189)	.	deleterious(0.04)	1,1	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,missense_variant,p.Pro205Ser,ENST00000396317,;LILRB1,missense_variant,p.Pro205Ser,ENST00000448689,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396331,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396315,;LILRB1,missense_variant,p.Pro241Ser,ENST00000427581,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396327,;LILRB1,missense_variant,p.Pro205Ser,ENST00000418536,;LILRB1,missense_variant,p.Pro205Ser,ENST00000434867,;LILRB1,missense_variant,p.Pro205Ser,ENST00000324602,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396332,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396321,;AC009892.10,downstream_gene_variant,,ENST00000456337,;AC009892.1,upstream_gene_variant,,ENST00000578908,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Pro205Ser,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	838	256	263	SUCCESS
FIZ1	84922	.	GRCh37	19	56104976	56104976	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	93	0	ENST00000221665.3:c.331G>A	p.Val111Ile	p.V111I	ENST00000221665	NM_032836.2	111	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS12928.1	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACCAGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF11,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221665	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000221665	Transcript	.	.	ENSG00000179943	25917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.15)	.	FIZ1_HUMAN	FIZ1	HGNC	K7EQX6_HUMAN,K7EJE2_HUMAN	.	UPI000013C7D7	SNV	FIZ1,missense_variant,p.Val111Ile,ENST00000221665,;FIZ1,missense_variant,p.Val111Ile,ENST00000590714,;FIZ1,3_prime_UTR_variant,,ENST00000587678,;FIZ1,intron_variant,,ENST00000592585,;FIZ1,downstream_gene_variant,,ENST00000587414,;	421	93	106	SUCCESS
PEG3	5178	.	GRCh37	19	57327699	57327699	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	95	0	ENST00000326441.9:c.2111A>T	p.Gln704Leu	p.Q704L	ENST00000326441	NM_006210.2	704	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS12948.1	2111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGATGC	BUFFER|p.H707Y|c.2119C>T|6,BUFFER|p.H707Y|c.2119C>T|6	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Superfamily_domains:SSF57667	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.2)	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,missense_variant,p.Gln704Leu,ENST00000423103,;PEG3,missense_variant,p.Gln704Leu,ENST00000599577,;PEG3,missense_variant,p.Gln704Leu,ENST00000599534,;PEG3,missense_variant,p.Gln580Leu,ENST00000598410,;PEG3,missense_variant,p.Gln704Leu,ENST00000326441,;PEG3,missense_variant,p.Gln578Leu,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	2475	95	93	SUCCESS
VAV3	10451	.	GRCh37	1	108507415	108507415	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	33	162	1	ENST00000370056.4:c.77A>G	p.Asp26Gly	p.D26G	ENST00000370056	NM_006113.4	26	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS785.1	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGTCCCAG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Pfam_domain:PF11971,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000359073	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	tolerated(0.13)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Asp21Gly,ENST00000490388,;VAV3,missense_variant,p.Asp26Gly,ENST00000370056,;VAV3,missense_variant,p.Asp26Gly,ENST00000527011,;VAV3,5_prime_UTR_variant,,ENST00000371846,;VAV3-AS1,intron_variant,,ENST00000438318,;VAV3,upstream_gene_variant,,ENST00000469325,;VAV3,upstream_gene_variant,,ENST00000530671,;	352	163	160	SUCCESS
GON4L	54856	.	GRCh37	1	155722050	155722050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	318	139	299	0	ENST00000368331.1:c.6174G>T	p.Lys2058Asn	p.K2058N	ENST00000368331	NM_001037533.1	2058	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS44242.1	6171	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTTTGA	NONE	.	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF10	.	.	ENSP00000396117	.	30/32	.	.	.	.	.	.	.	.	.	30/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.11)	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,missense_variant,p.Lys2057Asn,ENST00000437809,;GON4L,missense_variant,p.Lys2058Asn,ENST00000368331,;GON4L,missense_variant,p.Lys2057Asn,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,upstream_gene_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;GON4L,downstream_gene_variant,,ENST00000483032,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	6294	299	457	SUCCESS
FHAD1	114827	.	GRCh37	1	15675645	15675645	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	58	0	ENST00000358897.4:c.2388G>C	p.Glu796Asp	p.E796D	ENST00000358897	NM_052929.1	796	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	.	.	2388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGGTATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF3	.	.	ENSP00000351770	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000358897	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	deleterious(0.01)	.	FHAD1_HUMAN	FHAD1	HGNC	.	.	UPI0001761703	SNV	FHAD1,missense_variant,p.Glu796Asp,ENST00000358897,;FHAD1,missense_variant,p.Glu796Asp,ENST00000375998,;FHAD1,missense_variant,p.Glu796Asp,ENST00000375999,;FHAD1,intron_variant,,ENST00000314668,;FHAD1,intron_variant,,ENST00000314740,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000444385,;FHAD1,intron_variant,,ENST00000529606,;FHAD1,splice_region_variant,,ENST00000471347,;FHAD1,intron_variant,,ENST00000532408,;	2526	58	50	SUCCESS
RGSL1	353299	.	GRCh37	1	182443519	182443519	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs896098429	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	307	10	197	0	ENST00000294854.8:c.1273C>T	p.Arg425Cys	p.R425C	ENST00000294854	NM_001137669.1	425	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS58049.1	1273	MUTECT|MUSE	.	TCTTTCGTCAC	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845,Superfamily_domains:SSF48097	.	.	ENSP00000457748	.	6/22	.	.	.	.	.	.	.	.	COSM1689367,COSM1689366	6/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.051)	.	deleterious(0.03)	1,1	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,missense_variant,p.Arg425Cys,ENST00000294854,;RGSL1,missense_variant,p.Arg460Cys,ENST00000542961,;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Arg460Cys,ENST00000443996,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000416676,;RGSL1,upstream_gene_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000444367,;	1293	197	317	SUCCESS
CAPZB	832	.	GRCh37	1	19746233	19746233	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	80	0	ENST00000375142.1:c.15G>C	p.Gln5His	p.Q5H	ENST00000375142	NM_001206540.1	5	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS55579.1	15	MUTECT|MUSE	.	TCCAGCTGCTG	NONE	.	.	hmmpanther:PTHR10619,Pfam_domain:PF01115,Superfamily_domains:SSF90096,Prints_domain:PR00192	.	.	ENSP00000364284	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000375142	Transcript	.	.	ENSG00000077549	1491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CAPZB_HUMAN	CAPZB	HGNC	F6USW4_HUMAN	.	UPI0000126EDB	SNV	CAPZB,missense_variant,p.Gln5His,ENST00000375142,;CAPZB,missense_variant,p.Gln34His,ENST00000433834,;CAPZB,missense_variant,p.Gln5His,ENST00000401084,;CAPZB,missense_variant,p.Gln5His,ENST00000264202,;CAPZB,missense_variant,p.Gln31His,ENST00000264203,;CAPZB,5_prime_UTR_variant,,ENST00000375144,;CAPZB,5_prime_UTR_variant,,ENST00000413711,;RN7SL277P,upstream_gene_variant,,ENST00000481521,;CAPZB,non_coding_transcript_exon_variant,,ENST00000482808,;CAPZB,non_coding_transcript_exon_variant,,ENST00000489607,;CAPZB,intron_variant,,ENST00000459967,;	62	80	87	SUCCESS
USP1	7398	.	GRCh37	1	62913095	62913095	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	81	0	ENST00000339950.4:c.1333A>G	p.Ser445Gly	p.S445G	ENST00000339950	NM_003368.4	445	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS621.1	1333	MUTECT|MUSE|VARSCANS	.	GTGAAAGTTTA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,Gene3D:1nbfA02,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378,PROSITE_profiles:PS50235	.	.	ENSP00000343526	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000339950	Transcript	.	.	ENSG00000162607	12607	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.555)	.	tolerated(0.25)	.	UBP1_HUMAN	USP1	HGNC	C9JWX4_HUMAN,C9JC88_HUMAN	.	UPI00001379D4	SNV	USP1,missense_variant,p.Ser445Gly,ENST00000371146,;USP1,missense_variant,p.Ser445Gly,ENST00000339950,;USP1,downstream_gene_variant,,ENST00000452143,;	2148	81	87	SUCCESS
LEPR	3953	.	GRCh37	1	66102511	66102511	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	130	0	ENST00000349533.6:c.3311T>A	p.Phe1104Tyr	p.F1104Y	ENST00000349533	NM_002303.5	1104	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS631.1	3311	MUTECT|MUSE	.	CCCATTCCCAG	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF11	.	.	ENSP00000330393	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000349533	Transcript	.	.	ENSG00000116678	6554	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	tolerated(0.06)	.	LEPR_HUMAN	LEPR	HGNC	L0I9J6_HUMAN,A2RRQ4_HUMAN	.	UPI000014C37B	SNV	LEPR,missense_variant,p.Phe1104Tyr,ENST00000349533,;LEPR,missense_variant,p.Phe171Tyr,ENST00000406510,;LEPR,downstream_gene_variant,,ENST00000371060,;	3496	130	115	SUCCESS
TAS1R1	80835	.	GRCh37	1	6635364	6635364	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767318686	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	106	1	ENST00000333172.6:c.1172G>A	p.Arg391Gln	p.R391Q	ENST00000333172	NM_138697.3	391	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS81.1	1172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCGGGCTG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	.	.	ENSP00000331867	.	3/6	.	.	.	.	.	.	.	.	rs767318686	3/6	PASS	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.64)	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,missense_variant,p.Arg391Gln,ENST00000333172,;TAS1R1,missense_variant,p.Arg391Gln,ENST00000328191,;TAS1R1,missense_variant,p.Arg317Gln,ENST00000411823,;TAS1R1,intron_variant,,ENST00000415267,;TAS1R1,intron_variant,,ENST00000351136,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;ZBTB48,upstream_gene_variant,,ENST00000377674,;ZBTB48,upstream_gene_variant,,ENST00000319084,;	1365	107	95	SUCCESS
OVOL2	58495	.	GRCh37	20	18005322	18005322	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	21	201	0	ENST00000278780.6:c.786C>G	p.His262Gln	p.H262Q	ENST00000278780	NM_021220.2	262	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS13132.1	786	MUTECT|MUSE|VARSCANS	.	TCCTGGTGTGC	NONE	.	.	hmmpanther:PTHR10032:SF193,hmmpanther:PTHR10032	.	.	ENSP00000278780	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000278780	Transcript	.	.	ENSG00000125850	15804	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.043)	.	tolerated(0.07)	.	OVOL2_HUMAN	OVOL2	HGNC	.	.	UPI000013C360	SNV	OVOL2,missense_variant,p.His262Gln,ENST00000278780,;OVOL2,non_coding_transcript_exon_variant,,ENST00000483661,;OVOL2,non_coding_transcript_exon_variant,,ENST00000494030,;OVOL2,intron_variant,,ENST00000486776,;	1029	201	248	SUCCESS
LBP	3929	.	GRCh37	20	36983752	36983752	+	synonymous_variant	Silent	SNP	G	G	A	rs753612358	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	84	0	ENST00000217407.2:c.531G>A	p.Leu177=	p.L177=	ENST00000217407	NM_004139.3	177	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13304.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGTTGAA	NONE	byFrequency	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,Gene3D:1ewfA01,Pfam_domain:PF01273,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000217407	.	5/15	.	.	.	.	.	.	.	.	rs753612358	5/15	PASS	ENST00000217407	Transcript	.	.	ENSG00000129988	6517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBP_HUMAN	LBP	HGNC	.	.	UPI000013C728	SNV	LBP,synonymous_variant,p.%3D,ENST00000217407,;	692	84	89	SUCCESS
CTCFL	140690	.	GRCh37	20	56073609	56073609	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	31	103	0	ENST00000243914.3:c.1989G>A	p.Lys663=	p.K663=	ENST00000243914		663	aaG/aaA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58780.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCACTTATC	NONE	.	.	.	.	.	ENSP00000415579	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000423479	Transcript	.	.	ENSG00000124092	16234	.	.	HIGH	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTCFL_HUMAN	CTCFL	HGNC	.	.	UPI000157860F	SNV	CTCFL,splice_donor_variant,,ENST00000423479,;CTCFL,synonymous_variant,p.%3D,ENST00000371196,;CTCFL,synonymous_variant,p.%3D,ENST00000429804,;CTCFL,synonymous_variant,p.%3D,ENST00000608263,;CTCFL,synonymous_variant,p.%3D,ENST00000243914,;CTCFL,synonymous_variant,p.%3D,ENST00000609232,;CTCFL,downstream_gene_variant,,ENST00000608440,;CTCFL,downstream_gene_variant,,ENST00000433949,;CTCFL,downstream_gene_variant,,ENST00000502686,;CTCFL,downstream_gene_variant,,ENST00000422109,;CTCFL,downstream_gene_variant,,ENST00000426658,;	.	103	140	SUCCESS
PLCB1	23236	.	GRCh37	20	8678275	8678275	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	72	301	1	ENST00000338037.6:c.1012G>C	p.Gly338Arg	p.G338R	ENST00000338037	NM_015192.3	338	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS13102.1	1012	RADIA|SOMATICSNIPER|VARSCANS	.	TAGCTGGCCAA	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000338185	.	11/32	.	.	.	.	.	.	.	.	COSM4100708,COSM4100709	11/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.173)	.	deleterious(0)	1,1	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Gly338Arg,ENST00000378641,;PLCB1,missense_variant,p.Gly338Arg,ENST00000338037,;PLCB1,missense_variant,p.Gly338Arg,ENST00000378637,;PLCB1,missense_variant,p.Gly79Arg,ENST00000487210,;	1039	303	304	SUCCESS
LAMP5	24141	.	GRCh37	20	9510307	9510307	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	22	94	0	ENST00000246070.2:c.683A>G	p.Asp228Gly	p.D228G	ENST00000246070	NM_012261.3	228	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13106.1	683	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGATGAGC	NONE	.	.	hmmpanther:PTHR11506,Pfam_domain:PF01299	.	.	ENSP00000246070	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,missense_variant,p.Asp228Gly,ENST00000246070,;LAMP5,missense_variant,p.Asp184Gly,ENST00000427562,;	1175	94	135	SUCCESS
CACNG2	10369	.	GRCh37	22	36960731	36960731	+	synonymous_variant	Silent	SNP	G	G	A	rs762691427	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	18	0	ENST00000300105.6:c.639C>T	p.Arg213=	p.R213=	ENST00000300105	NM_006078.3	213	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13931.1	639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGCGGGC	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107	.	.	ENSP00000300105	.	4/4	.	.	.	.	.	.	.	.	rs762691427,COSM272448	4/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,synonymous_variant,p.%3D,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	1621	18	22	SUCCESS
CLASP1	23332	.	GRCh37	2	122216520	122216520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	54	0	ENST00000263710.4:c.1210G>A	p.Asp404Asn	p.D404N	ENST00000263710	NM_015282.2	404	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	.	1210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCAAACT	NONE	.	.	hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567,Pfam_domain:PF12348,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000263710	.	13/40	.	.	.	.	.	.	.	.	.	13/40	PASS	ENST00000263710	Transcript	.	.	ENSG00000074054	17088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	CLAP1_HUMAN	CLASP1	HGNC	C9JP76_HUMAN,C9J151_HUMAN	.	UPI00001A8BFF	SNV	CLASP1,missense_variant,p.Asp404Asn,ENST00000397587,;CLASP1,missense_variant,p.Asp404Asn,ENST00000263710,;CLASP1,missense_variant,p.Asp173Asn,ENST00000541859,;CLASP1,missense_variant,p.Asp404Asn,ENST00000455322,;CLASP1,missense_variant,p.Asp172Asn,ENST00000545861,;CLASP1,missense_variant,p.Asp404Asn,ENST00000541377,;CLASP1,missense_variant,p.Asp404Asn,ENST00000409078,;CLASP1,downstream_gene_variant,,ENST00000449975,;CLASP1,downstream_gene_variant,,ENST00000418989,;CLASP1,non_coding_transcript_exon_variant,,ENST00000430234,;CLASP1,downstream_gene_variant,,ENST00000480007,;CLASP1,missense_variant,p.Asp185Asn,ENST00000452274,;CLASP1,downstream_gene_variant,,ENST00000491646,;CLASP1,downstream_gene_variant,,ENST00000474065,;	1600	54	92	SUCCESS
ARL5A	26225	.	GRCh37	2	152670806	152670806	+	synonymous_variant	Silent	SNP	T	T	C	rs776861293	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	46	177	0	ENST00000295087.8:c.132A>G	p.Thr44=	p.T44=	ENST00000295087	NM_012097.3	44	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2195.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGTATG	NONE	byFrequency	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF147,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00178,SMART_domains:SM00177,Superfamily_domains:SSF52540	.	.	ENSP00000295087	.	3/6	.	.	.	.	.	.	.	.	rs776861293	3/6	PASS	ENST00000295087	Transcript	.	.	ENSG00000162980	696	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL5A_HUMAN	ARL5A	HGNC	.	.	UPI0000125EE6	SNV	ARL5A,synonymous_variant,p.%3D,ENST00000428992,;ARL5A,synonymous_variant,p.%3D,ENST00000295087,;ARL5A,synonymous_variant,p.%3D,ENST00000446896,;ARL5A,synonymous_variant,p.%3D,ENST00000458140,;	444	177	180	SUCCESS
MIR561	693146	.	GRCh37	2	189162265	189162265	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	74	0	ENST00000385216.1:n.47C>T		p.*16*	ENST00000385216				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2295.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCCAGAGC	NONE	.	.	.	.	.	ENSP00000386289	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409580	Transcript	.	.	ENSG00000144366	18649	.	.	MODIFIER	2/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GULP1_HUMAN	GULP1	HGNC	B8ZZL1_HUMAN	.	UPI0000031CE3	SNV	GULP1,intron_variant,,ENST00000409637,;GULP1,intron_variant,,ENST00000409805,;GULP1,intron_variant,,ENST00000409609,;GULP1,intron_variant,,ENST00000359135,;GULP1,intron_variant,,ENST00000409927,;GULP1,intron_variant,,ENST00000410051,;GULP1,intron_variant,,ENST00000409830,;GULP1,intron_variant,,ENST00000409843,;GULP1,intron_variant,,ENST00000409580,;MIR561,mature_miRNA_variant,,ENST00000385216,;GULP1,intron_variant,,ENST00000479019,;GULP1,downstream_gene_variant,,ENST00000486445,;	.	74	104	SUCCESS
SGOL2	0	.	GRCh37	2	201399836	201399838	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	37	0	ENST00000357799.4:c.254_256del	p.Glu85del	p.E85del	ENST00000357799	NM_152524.5	84	aAAGaa/aaa	0	.	.	.	.	.	-	KE/K	protein_coding	YES	CCDS42796.1	251-253	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCAAAAAGAAGTA	NONE	.	.	hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577	.	.	ENSP00000350447	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000357799	Transcript	.	.	ENSG00000163535	30812	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SGOL2_HUMAN	SGOL2	HGNC	C9JW92_HUMAN	.	UPI00001AEBF5	deletion	SGOL2,inframe_deletion,p.Glu85del,ENST00000418045,;SGOL2,inframe_deletion,p.Glu85del,ENST00000409203,;SGOL2,inframe_deletion,p.Glu85del,ENST00000357799,;SGOL2,downstream_gene_variant,,ENST00000460534,;SGOL2,upstream_gene_variant,,ENST00000469840,;SGOL2,non_coding_transcript_exon_variant,,ENST00000488636,;	349-351	37	72	SUCCESS
NYAP2	57624	.	GRCh37	2	226273578	226273578	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	71	1	ENST00000272907.6:c.-17-2A>T		p.X6_splice	ENST00000272907	NM_020864.1	6		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46529.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	CCTGCAGGCAG	NONE	.	.	.	.	.	ENSP00000272907	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	HIGH	1/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,splice_acceptor_variant,,ENST00000272907,;NYAP2,upstream_gene_variant,,ENST00000409269,;	.	72	85	SUCCESS
SPHKAP	80309	.	GRCh37	2	228882436	228882436	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	79	0	ENST00000392056.3:c.3134A>C	p.Lys1045Thr	p.K1045T	ENST00000392056	NM_001142644.1	1045	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS46537.1	3134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCTTGGCT	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	deleterious(0)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Lys1045Thr,ENST00000344657,;SPHKAP,missense_variant,p.Lys1045Thr,ENST00000392056,;	3181	79	91	SUCCESS
COL6A3	1293	.	GRCh37	2	238245049	238245049	+	synonymous_variant	Silent	SNP	A	A	G	rs537384335	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	71	0	ENST00000295550.4:c.8694T>C	p.Thr2898=	p.T2898=	ENST00000295550	NM_004369.3	2898	acT/acC	0	.	G:0	.	G:0	.	G	T	protein_coding	YES	CCDS33412.1	8694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATAGTCAC	NONE	by1000G	.	Low_complexity_(Seg):seg	G:0.001	.	ENSP00000295550	G:0	40/44	.	.	.	.	.	.	.	.	rs537384335	40/44	PASS	ENST00000295550	Transcript	.	G:0.0002	ENSG00000163359	2213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,synonymous_variant,p.%3D,ENST00000472056,;COL6A3,synonymous_variant,p.%3D,ENST00000409809,;COL6A3,synonymous_variant,p.%3D,ENST00000295550,;COL6A3,synonymous_variant,p.%3D,ENST00000347401,;COL6A3,synonymous_variant,p.%3D,ENST00000346358,;COL6A3,synonymous_variant,p.%3D,ENST00000353578,;COL6A3,upstream_gene_variant,,ENST00000493608,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,;	9147	71	104	SUCCESS
DRC1	92749	.	GRCh37	2	26676331	26676331	+	synonymous_variant	Silent	SNP	G	G	A	rs770534903	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	87	1	ENST00000288710.2:c.1833G>A	p.Glu611=	p.E611=	ENST00000288710	NM_145038.2	611	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS1723.1	1833	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGGAGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1	.	.	ENSP00000288710	.	14/17	.	.	.	.	.	.	.	.	rs770534903	14/17	PASS	ENST00000288710	Transcript	.	.	ENSG00000157856	24245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRC1_HUMAN	DRC1	HGNC	.	.	UPI000013DF36	SNV	DRC1,synonymous_variant,p.%3D,ENST00000288710,;DRC1,synonymous_variant,p.%3D,ENST00000439066,;OTOF,downstream_gene_variant,,ENST00000403946,;OTOF,downstream_gene_variant,,ENST00000338581,;OTOF,downstream_gene_variant,,ENST00000272371,;OTOF,downstream_gene_variant,,ENST00000339598,;OTOF,downstream_gene_variant,,ENST00000402415,;	1907	88	94	SUCCESS
TET3	200424	.	GRCh37	2	74275063	74275063	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	90	0	ENST00000409262.3:c.1614G>C	p.Arg538Ser	p.R538S	ENST00000409262	NM_144993.1	538	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS46339.1	1614	MUTECT|MUSE	.	TCCAGGGACAG	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4	.	.	ENSP00000386869	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000409262	Transcript	.	.	ENSG00000187605	28313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.39)	.	TET3_HUMAN	TET3	HGNC	K9JJH7_HUMAN	.	UPI0000DD79F5	SNV	TET3,missense_variant,p.Arg538Ser,ENST00000409262,;TET3,missense_variant,p.Arg580Ser,ENST00000305799,;TET3,non_coding_transcript_exon_variant,,ENST00000475405,;	1614	90	120	SUCCESS
MYH15	22989	.	GRCh37	3	108147461	108147461	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	258	11	209	0	ENST00000273353.3:c.3640G>C	p.Glu1214Gln	p.E1214Q	ENST00000273353	NM_014981.1	1214	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS43127.1	3640	MUTECT|MUSE	.	GAGCTCAGCCA	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	28/42	.	.	.	.	.	.	.	.	COSM727415	28/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.872)	.	deleterious(0.01)	1	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Glu1214Gln,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	3697	209	269	SUCCESS
ZIC1	7545	.	GRCh37	3	147128637	147128637	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	43	135	0	ENST00000282928.4:c.738C>T	p.Phe246=	p.F246=	ENST00000282928	NM_003412.3	246	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS3136.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCAGCAC	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000282928	.	1/3	.	.	.	.	.	.	.	.	COSM1566196	1/3	PASS	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	SNV	ZIC1,synonymous_variant,p.%3D,ENST00000282928,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000491672,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	1467	135	166	SUCCESS
SSR3	6747	.	GRCh37	3	156266720	156266720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	54	0	ENST00000265044.2:c.333G>T	p.Lys111Asn	p.K111N	ENST00000265044	NM_007107.3	111	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS3176.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCTTTCT	NONE	.	.	Pfam_domain:PF07074,hmmpanther:PTHR13399,hmmpanther:PTHR13399:SF2	.	.	ENSP00000265044	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000265044	Transcript	.	.	ENSG00000114850	11325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	SSRG_HUMAN	SSR3	HGNC	C9J365_HUMAN	.	UPI0000136005	SNV	SSR3,missense_variant,p.Lys111Asn,ENST00000265044,;SSR3,missense_variant,p.Lys59Asn,ENST00000463503,;SSR3,missense_variant,p.Lys59Asn,ENST00000496050,;SSR3,missense_variant,p.Lys111Asn,ENST00000467789,;SSR3,missense_variant,p.Lys111Asn,ENST00000476217,;SSR3,non_coding_transcript_exon_variant,,ENST00000464138,;SSR3,non_coding_transcript_exon_variant,,ENST00000478842,;SSR3,non_coding_transcript_exon_variant,,ENST00000498205,;SSR3,non_coding_transcript_exon_variant,,ENST00000467733,;	428	54	63	SUCCESS
IQCJ-SCHIP1	100505385	.	GRCh37	3	158991644	158991644	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	91	0	ENST00000337808.6:c.35A>T	p.Asp12Val	p.D12V	ENST00000337808	NM_001197107.1	12	gAc/gTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56289.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGACTGTG	NONE	.	.	.	.	.	ENSP00000420182	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000485419	Transcript	.	.	ENSG00000250588	38842	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IQCJ-SCHIP1	HGNC	C9JMW4_HUMAN,C9J630_HUMAN,C9J615_HUMAN	.	UPI0000E5AA62	SNV	IQCJ-SCHIP1,missense_variant,p.Asp12Val,ENST00000527095,;IQCJ-SCHIP1,missense_variant,p.Asp12Val,ENST00000337808,;IQCJ-SCHIP1,missense_variant,p.Asp12Val,ENST00000412423,;IQCJ-SCHIP1,intron_variant,,ENST00000481715,;IQCJ-SCHIP1,intron_variant,,ENST00000488898,;IQCJ-SCHIP1,intron_variant,,ENST00000476809,;IQCJ-SCHIP1,intron_variant,,ENST00000471575,;IQCJ-SCHIP1,intron_variant,,ENST00000485419,;IQCJ-SCHIP1,intron_variant,,ENST00000483486,;IQCJ-SCHIP1,intron_variant,,ENST00000467442,;	.	91	105	SUCCESS
SI	6476	.	GRCh37	3	164776979	164776979	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	5	128	0	ENST00000264382.3:c.1255G>A	p.Gly419Arg	p.G419R	ENST00000264382	NM_001041.3	419	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS3196.1	1255	MUTECT|MUSE	.	CTGTCCATGGT	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	11/48	.	.	.	.	.	.	.	.	COSM3589597	11/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Gly419Arg,ENST00000264382,;	1318	128	151	SUCCESS
SCN5A	6331	.	GRCh37	3	38645342	38645342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	48	0	ENST00000333535.4:c.1751G>A	p.Gly584Asp	p.G584D	ENST00000333535		584	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS46799.1	1751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCCAGGA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF11933	.	.	ENSP00000410257	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.236)	.	tolerated(0.62)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Gly584Asp,ENST00000449557,;SCN5A,missense_variant,p.Gly584Asp,ENST00000413689,;SCN5A,missense_variant,p.Gly584Asp,ENST00000423572,;SCN5A,missense_variant,p.Gly584Asp,ENST00000425664,;SCN5A,missense_variant,p.Gly584Asp,ENST00000414099,;SCN5A,missense_variant,p.Gly584Asp,ENST00000451551,;SCN5A,missense_variant,p.Gly584Asp,ENST00000450102,;SCN5A,missense_variant,p.Gly584Asp,ENST00000333535,;SCN5A,missense_variant,p.Gly584Asp,ENST00000455624,;SCN5A,missense_variant,p.Gly584Asp,ENST00000443581,;	1945	48	60	SUCCESS
ITPR1	3708	.	GRCh37	3	4693825	4693829	+	frameshift_variant	Frame_Shift_Del	DEL	TGTCG	TGTCG	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	TGTCG	TGTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	96	35	102	0	ENST00000354582.6:c.874_878del	p.Cys292GlyfsTer28	p.C292Gfs*28	ENST00000354582		292	TGTCGg/g	0	.	.	.	.	.	-	CR/X	protein_coding	YES	CCDS54551.1	874-878	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCCATGTCGGGGCG	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,Superfamily_domains:SSF82109,Prints_domain:PR00779	.	.	ENSP00000306253	.	11/61	.	.	.	.	.	.	.	.	.	11/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	deletion	ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000423119,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000456211,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000357086,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000302640,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000443694,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000354582,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;	1224-1228	102	131	SUCCESS
ITIH4	3700	.	GRCh37	3	52863215	52863215	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	33	95	0	ENST00000266041.4:c.171G>A	p.Val57=	p.V57=	ENST00000266041	NM_002218.4	57	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2865.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACCACTCG	NONE	.	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338,Pfam_domain:PF08487,SMART_domains:SM00609	.	.	ENSP00000266041	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,synonymous_variant,p.%3D,ENST00000266041,;ITIH4,synonymous_variant,p.%3D,ENST00000346281,;ITIH4,synonymous_variant,p.%3D,ENST00000485816,;ITIH4,synonymous_variant,p.%3D,ENST00000406595,;ITIH4,intron_variant,,ENST00000434759,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000514466,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000504329,;MUSTN1,downstream_gene_variant,,ENST00000486659,;ITIH4,upstream_gene_variant,,ENST00000441637,;MUSTN1,downstream_gene_variant,,ENST00000446157,;ITIH4-AS1,downstream_gene_variant,,ENST00000478366,;RP5-966M1.6,downstream_gene_variant,,ENST00000513520,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,intron_variant,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000483372,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000495552,;ITIH4,downstream_gene_variant,,ENST00000473904,;	268	95	113	SUCCESS
ARHGEF3	50650	.	GRCh37	3	56835759	56835759	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs751146866	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	75	1	ENST00000296315.3:c.68C>G	p.Pro23Arg	p.P23R	ENST00000296315	NM_019555.2	23	cCg/cGg	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46854.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TGGCCGGGGGT	NONE	byFrequency	.	.	.	.	ENSP00000341071	.	.	.	.	.	.	.	.	.	.	rs751146866	.	PASS	ENST00000338458	Transcript	.	.	ENSG00000163947	683	.	.	MODIFIER	4/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHG3_HUMAN	ARHGEF3	HGNC	C9J609_HUMAN,C9J5K8_HUMAN	.	UPI00001B3D98	SNV	ARHGEF3,missense_variant,p.Pro23Arg,ENST00000296315,;ARHGEF3,missense_variant,p.Pro23Arg,ENST00000495373,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000496106,;ARHGEF3,intron_variant,,ENST00000473779,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000481422,;ARHGEF3,intron_variant,,ENST00000498517,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,missense_variant,p.Pro74Arg,ENST00000465659,;ARHGEF3,intron_variant,,ENST00000486829,;ARHGEF3,intron_variant,,ENST00000477833,;	.	76	72	SUCCESS
ROBO2	6092	.	GRCh37	3	77614132	77614132	+	synonymous_variant	Silent	SNP	C	C	T	rs765291604	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	68	1	ENST00000461745.1:c.1710C>T	p.Thr570=	p.T570=	ENST00000461745	NM_002942.4	570	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54609.1	1758	MUTECT|VARSCANS	.	CAGACCGTGGC	BUFFER|p.Q585K|c.1753C>A|3,BUFFER|p.Q569K|c.1705C>A|4	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	13/27	.	.	.	.	.	.	.	.	rs765291604,COSM1048515,COSM1048516	13/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,synonymous_variant,p.%3D,ENST00000332191,;ROBO2,synonymous_variant,p.%3D,ENST00000602589,;ROBO2,synonymous_variant,p.%3D,ENST00000461745,;ROBO2,synonymous_variant,p.%3D,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2037	69	53	SUCCESS
STIM2	57620	.	GRCh37	4	27024472	27024472	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	95	0	ENST00000467087.1:c.2095T>G	p.Ser699Ala	p.S699A	ENST00000467087	NM_020860.3	699	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS54751.1	2119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTTCCTCA	NONE	.	.	hmmpanther:PTHR15136:SF2,hmmpanther:PTHR15136	.	.	ENSP00000417569	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000465503	Transcript	.	.	ENSG00000109689	19205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	deleterious_low_confidence(0.01)	.	.	STIM2	HGNC	R4GNC5_HUMAN,R4GN82_HUMAN,R4GMP0_HUMAN,Q05BJ5_HUMAN,H0Y860_HUMAN	.	UPI0001B79443	SNV	STIM2,missense_variant,p.Ser786Ala,ENST00000237364,;STIM2,missense_variant,p.Ser699Ala,ENST00000467087,;STIM2,missense_variant,p.Ser707Ala,ENST00000465503,;STIM2,missense_variant,p.Ser794Ala,ENST00000382009,;STIM2,3_prime_UTR_variant,,ENST00000467011,;STIM2,3_prime_UTR_variant,,ENST00000412829,;STIM2,downstream_gene_variant,,ENST00000477474,;STIM2,downstream_gene_variant,,ENST00000473519,;STIM2,downstream_gene_variant,,ENST00000504511,;	2497	95	108	SUCCESS
ZNF141	7700	.	GRCh37	4	366775	366775	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	59	0	ENST00000240499.7:c.549T>A	p.Phe183Leu	p.F183L	ENST00000240499	NM_003441.2	183	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS33931.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTTTCACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF102,hmmpanther:PTHR24384,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000240499	.	4/4	.	.	.	.	.	.	.	.	COSM1055033	4/4	PASS	ENST00000240499	Transcript	1	.	ENSG00000131127	12926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.827)	.	tolerated(1)	1	ZN141_HUMAN	ZNF141	HGNC	Q4W5N2_HUMAN	.	UPI000013C2FB	SNV	ZNF141,missense_variant,p.Phe183Leu,ENST00000240499,;ZNF141,missense_variant,p.Phe183Leu,ENST00000512994,;ZNF141,intron_variant,,ENST00000505939,;ZNF141,non_coding_transcript_exon_variant,,ENST00000366506,;	698	59	79	SUCCESS
ATP8A1	10396	.	GRCh37	4	42553255	42553255	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	37	131	0	ENST00000381668.5:c.1562T>C	p.Val521Ala	p.V521A	ENST00000381668	NM_006095.2	521	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3466.1	1562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAACAAAA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Pfam_domain:PF12710,Superfamily_domains:SSF81660	.	.	ENSP00000371084	.	18/37	.	.	.	.	.	.	.	.	.	18/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.07)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Val521Ala,ENST00000381668,;ATP8A1,missense_variant,p.Val506Ala,ENST00000264449,;ATP8A1,downstream_gene_variant,,ENST00000506713,;	1794	131	136	SUCCESS
EVC2	132884	.	GRCh37	4	5633629	5633629	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	66	0	ENST00000344408.5:c.1601G>A	p.Arg534Lys	p.R534K	ENST00000344408	NM_147127.4	534	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS3382.2	1601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCTCTGG	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Arg534Lys,ENST00000344938,;EVC2,missense_variant,p.Arg454Lys,ENST00000310917,;EVC2,missense_variant,p.Arg534Lys,ENST00000344408,;EVC2,missense_variant,p.Arg454Lys,ENST00000475313,;EVC2,synonymous_variant,p.%3D,ENST00000509670,;	1655	66	69	SUCCESS
UGT2B4	7363	.	GRCh37	4	70360887	70360889	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	81	14	99	0	ENST00000305107.6:c.691_693del	p.Lys231del	p.K231del	ENST00000305107	NM_021139.2	231	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS43234.1	691-693	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCCACTTCTTCA	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,inframe_deletion,p.Lys231del,ENST00000305107,;UGT2B4,inframe_deletion,p.Lys231del,ENST00000512583,;UGT2B4,inframe_deletion,p.Lys95del,ENST00000381096,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;	738-740	99	95	SUCCESS
GIN1	54826	.	GRCh37	5	102433403	102433403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782668467	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	78	0	ENST00000399004.2:c.722G>A	p.Ser241Asn	p.S241N	ENST00000399004	NM_017676.2	241	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS43349.1	722	MUTECT|MUSE	.	GTGTACTTTCC	NONE	.	.	PROSITE_profiles:PS50994,hmmpanther:PTHR24559:SF168,hmmpanther:PTHR24559,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000381970	.	5/8	.	.	.	.	.	.	.	.	rs782668467	5/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.32)	.	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,missense_variant,p.Ser241Asn,ENST00000399004,;GIN1,intron_variant,,ENST00000508629,;GIN1,upstream_gene_variant,,ENST00000507478,;GIN1,downstream_gene_variant,,ENST00000511400,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,intron_variant,,ENST00000513747,;	817	78	111	SUCCESS
FBN2	2201	.	GRCh37	5	127686699	127686699	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	50	0	ENST00000262464.4:c.2675-2A>G		p.X892_splice	ENST00000262464	NM_001999.3	892		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34222.1	.	MUTECT|MUSE	.	CTGTCTGAAAA	NONE	.	.	.	.	.	ENSP00000424571	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	HIGH	26/70	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,splice_acceptor_variant,,ENST00000262464,;FBN2,splice_acceptor_variant,,ENST00000508053,;FBN2,splice_acceptor_variant,,ENST00000508989,;	.	50	79	SUCCESS
SLC27A6	28965	.	GRCh37	5	128365345	128365345	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	60	1	ENST00000262462.4:c.1628A>G	p.Glu543Gly	p.E543G	ENST00000262462		543	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4145.1	1628	MUTECT|MUSE	.	TTATGAACAAG	NONE	.	.	hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Pfam_domain:PF13193,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	.	.	ENSP00000262462	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.071)	.	deleterious(0.05)	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,missense_variant,p.Glu543Gly,ENST00000506176,;SLC27A6,missense_variant,p.Glu543Gly,ENST00000395266,;SLC27A6,missense_variant,p.Glu543Gly,ENST00000262462,;	2638	61	92	SUCCESS
DNAH5	1767	.	GRCh37	5	13820597	13820597	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	69	0	ENST00000265104.4:c.6699T>C	p.Ala2233=	p.A2233=	ENST00000265104	NM_001369.2	2233	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3882.1	6699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAGCTTC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	41/79	.	.	.	.	.	.	.	.	.	41/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	6804	69	105	SUCCESS
PCDHA5	56143	.	GRCh37	5	140203594	140203594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	15	79	0	ENST00000529859.1:c.2234G>T	p.Gly745Val	p.G745V	ENST00000529859	NM_018908.2	745	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54917.1	2234	MUSE|VARSCANS	.	GGTGGGGAGCT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.731)	.	deleterious_low_confidence(0)	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Gly745Val,ENST00000529619,;PCDHA5,missense_variant,p.Gly745Val,ENST00000378126,;PCDHA5,missense_variant,p.Gly745Val,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	2234	79	122	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140307840	140307840	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	34	0	ENST00000253807.2:c.1363G>C	p.Ala455Pro	p.A455P	ENST00000253807	NM_018898.3	455	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS4241.1	1363	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTGCTGAA	BUFFER|p.F453F|c.1359C>T|3	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,PROSITE_profiles:PS50268	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.3)	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,missense_variant,p.Ala455Pro,ENST00000253807,;PCDHAC1,missense_variant,p.Ala455Pro,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1363	34	49	SUCCESS
ADRB2	154	.	GRCh37	5	148207094	148207094	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	76	0	ENST00000305988.4:c.700G>C	p.Asp234His	p.D234H	ENST00000305988	NM_000024.5	234	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4292.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTGACAAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF21,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00562	.	.	ENSP00000305372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305988	Transcript	1	.	ENSG00000169252	286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0)	.	ADRB2_HUMAN	ADRB2	HGNC	Q9BYZ0_HUMAN	.	UPI000013EAD0	SNV	ADRB2,missense_variant,p.Asp234His,ENST00000305988,;	939	76	99	SUCCESS
FAT2	2196	.	GRCh37	5	150948274	150948274	+	synonymous_variant	Silent	SNP	G	G	T	rs1219424693	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	43	147	1	ENST00000261800.5:c.219C>A	p.Ile73=	p.I73=	ENST00000261800	NM_001447.2	73	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4317.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATGATCCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	232	148	204	SUCCESS
GRIA1	2890	.	GRCh37	5	153085452	153085460	+	inframe_deletion	In_Frame_Del	DEL	GTGAGTGTT	GTGAGTGTT	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	GTGAGTGTT	GTGAGTGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	298	42	240	0	ENST00000285900.5:c.1650_1658del	p.Ser551_Val553del	p.S551_V553del	ENST00000285900	NM_000827.3	550	GTGAGTGTT/-	0	.	.	.	.	.	-	VSV/-	protein_coding	YES	CCDS58987.1	1678-1686	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGGAGTGAGTGTTGTCCT	NONE	.	.	Superfamily_domains:SSF81324,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000428994	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	deletion	GRIA1,inframe_deletion,p.Ser471_Val473del,ENST00000518142,;GRIA1,inframe_deletion,p.Ser561_Val563del,ENST00000518783,;GRIA1,inframe_deletion,p.Ser482_Val484del,ENST00000521843,;GRIA1,inframe_deletion,p.Ser551_Val553del,ENST00000285900,;GRIA1,inframe_deletion,p.Ser561_Val563del,ENST00000448073,;GRIA1,inframe_deletion,p.Ser551_Val553del,ENST00000340592,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	1705-1713	240	340	SUCCESS
DOK3	79930	.	GRCh37	5	176931755	176931755	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751359031	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	87	0	ENST00000357198.4:c.802G>A	p.Gly268Ser	p.G268S	ENST00000357198	NM_024872.2	268	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4426.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGAACT	NONE	byFrequency	.	PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF42,Pfam_domain:PF02174,Gene3D:2.30.29.30,SMART_domains:SM00310,Superfamily_domains:SSF50729	.	.	ENSP00000349727	.	5/6	.	.	.	.	.	.	.	.	rs751359031	5/6	PASS	ENST00000357198	Transcript	.	.	ENSG00000146094	24583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DOK3_HUMAN	DOK3	HGNC	D6RC22_HUMAN,D6RAZ9_HUMAN,D6RAV2_HUMAN,D6RAM3_HUMAN,D6R977_HUMAN,D6R951_HUMAN	.	UPI000013DA2C	SNV	DOK3,missense_variant,p.Gly212Ser,ENST00000312943,;DOK3,missense_variant,p.Gly212Ser,ENST00000510380,;DOK3,missense_variant,p.Gly212Ser,ENST00000501403,;DOK3,missense_variant,p.Gly268Ser,ENST00000357198,;DOK3,missense_variant,p.Gly110Ser,ENST00000377112,;DOK3,downstream_gene_variant,,ENST00000506493,;DOK3,downstream_gene_variant,,ENST00000502885,;DOK3,downstream_gene_variant,,ENST00000510898,;DOK3,downstream_gene_variant,,ENST00000510389,;DOK3,downstream_gene_variant,,ENST00000509310,;RP11-1334A24.6,downstream_gene_variant,,ENST00000506025,;DOK3,non_coding_transcript_exon_variant,,ENST00000500323,;DOK3,downstream_gene_variant,,ENST00000512660,;DOK3,downstream_gene_variant,,ENST00000502380,;	807	87	114	SUCCESS
PRDM9	56979	.	GRCh37	5	23527194	23527194	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	20	85	0	ENST00000296682.3:c.1997G>A	p.Cys666Tyr	p.C666Y	ENST00000296682	NM_020227.2	666	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS43307.1	1997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGCAGGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	.	.	ENSP00000296682	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,missense_variant,p.Cys666Tyr,ENST00000296682,;	2179	85	107	SUCCESS
BRIX1	55299	.	GRCh37	5	34925045	34925045	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	21	0	ENST00000336767.5:c.757T>G	p.Leu253Val	p.L253V	ENST00000336767	NM_018321.3	253	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS34143.1	757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTTTATAT	NONE	.	.	hmmpanther:PTHR13634	.	.	ENSP00000338862	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000336767	Transcript	.	.	ENSG00000113460	24170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	tolerated(0.06)	.	BRX1_HUMAN	BRIX1	HGNC	Q9NUW4_HUMAN	.	UPI000007186B	SNV	BRIX1,missense_variant,p.Leu253Val,ENST00000336767,;DNAJC21,upstream_gene_variant,,ENST00000303525,;DNAJC21,upstream_gene_variant,,ENST00000342382,;DNAJC21,upstream_gene_variant,,ENST00000382021,;BRIX1,non_coding_transcript_exon_variant,,ENST00000506023,;BRIX1,non_coding_transcript_exon_variant,,ENST00000515798,;BRIX1,downstream_gene_variant,,ENST00000510834,;BRIX1,downstream_gene_variant,,ENST00000510960,;	1120	21	29	SUCCESS
C7	730	.	GRCh37	5	40945320	40945320	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	5	87	0	ENST00000313164.9:c.588T>A	p.Phe196Leu	p.F196L	ENST00000313164	NM_000587.2	196	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS47201.1	588	MUTECT|MUSE	.	GATTTTAATTA	NONE	.	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF312	.	.	ENSP00000322061	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000313164	Transcript	1	.	ENSG00000112936	1346	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.414)	.	tolerated(0.06)	.	CO7_HUMAN	C7	HGNC	.	.	UPI000020CA08	SNV	C7,missense_variant,p.Phe196Leu,ENST00000313164,;C7,non_coding_transcript_exon_variant,,ENST00000508185,;	947	87	137	SUCCESS
CEP85L	387119	.	GRCh37	6	118832526	118832526	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138089888	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	26	83	0	ENST00000368491.3:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000368491	NM_001042475.2	398	Cgg/Tgg	0	A:0.0009	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS55052.1	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGTAATT	NONE	byCluster|by1000G	.	hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF2	A:0	A:0	ENSP00000357474	A:0	6/14	.	.	.	.	.	.	.	.	rs138089888,COSM1440125	6/14	PASS	ENST00000368488	Transcript	.	A:0.0002	ENSG00000111860	21638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.429)	A:0	deleterious(0)	0,1	CE85L_HUMAN	CEP85L	HGNC	A2A3P3_HUMAN	.	UPI0001D1E40A	SNV	CEP85L,missense_variant,p.Arg401Trp,ENST00000434604,;CEP85L,missense_variant,p.Arg296Trp,ENST00000360290,;CEP85L,missense_variant,p.Arg398Trp,ENST00000419517,;CEP85L,missense_variant,p.Arg401Trp,ENST00000392500,;CEP85L,missense_variant,p.Arg401Trp,ENST00000368488,;CEP85L,missense_variant,p.Arg398Trp,ENST00000368491,;	1268	83	101	SUCCESS
TBC1D32	221322	.	GRCh37	6	121625734	121625734	+	synonymous_variant	Silent	SNP	A	A	G	rs775508858	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	68	0	ENST00000398212.2:c.807T>C	p.Asn269=	p.N269=	ENST00000398212	NM_152730.4	269	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS43501.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGATTTTC	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	7/32	.	.	.	.	.	.	.	.	rs775508858	7/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,synonymous_variant,p.%3D,ENST00000398212,;TBC1D32,synonymous_variant,p.%3D,ENST00000275159,;TBC1D32,downstream_gene_variant,,ENST00000422369,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	857	68	52	SUCCESS
KIAA1244	0	.	GRCh37	6	138640960	138640960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	56	151	0	ENST00000251691.4:c.4595C>T	p.Ala1532Val	p.A1532V	ENST00000251691	NM_020340.4	1532	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5189.2	4595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGCTATTG	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	28/34	.	.	.	.	.	.	.	.	.	28/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Ala1532Val,ENST00000251691,;	4761	151	160	SUCCESS
PRSS16	10279	.	GRCh37	6	27220730	27220730	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	11	120	0	ENST00000230582.3:c.1150+2T>C		p.X384_splice	ENST00000230582	NM_005865.3	384		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4623.1	.	MUTECT|MUSE|VARSCANS	.	TTCTGTAAGTG	BUFFER|p.F381F|c.1143C>T|5	.	.	.	.	.	ENSP00000230582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	HIGH	9/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,splice_donor_variant,,ENST00000485993,;PRSS16,splice_donor_variant,,ENST00000475106,;PRSS16,splice_donor_variant,,ENST00000230582,;PRSS16,splice_donor_variant,,ENST00000421826,;PRSS16,splice_donor_variant,,ENST00000468138,;PRSS16,splice_donor_variant,,ENST00000459736,;PRSS16,splice_donor_variant,,ENST00000484493,;PRSS16,intron_variant,,ENST00000471463,;PRSS16,intron_variant,,ENST00000478690,;PRSS16,intron_variant,,ENST00000377456,;PRSS16,splice_donor_variant,,ENST00000481125,;PRSS16,splice_donor_variant,,ENST00000492575,;PRSS16,splice_donor_variant,,ENST00000470870,;PRSS16,splice_donor_variant,,ENST00000454665,;PRSS16,splice_donor_variant,,ENST00000488649,;PRSS16,splice_donor_variant,,ENST00000468930,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,downstream_gene_variant,,ENST00000462664,;	.	120	143	SUCCESS
HCP5	10866	.	GRCh37	6	31378413	31378413	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	51	193	0	ENST00000414046.2:n.62+9873C>T		p.*21*	ENST00000414046		55		0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS56412.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCCTTCC	NONE	.	.	Superfamily_domains:SSF54452,Pfam_domain:PF00129,Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF138	.	.	ENSP00000413079	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000449934	Transcript	.	.	ENSG00000204520	7090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.94)	.	.	MICA	HGNC	Q96QC4_HUMAN,P79540_HUMAN,P79539_HUMAN,P79533_HUMAN,P79531_HUMAN,P79530_HUMAN,P79527_HUMAN,P78551_HUMAN,L0L8F7_HUMAN,J9YLR7_HUMAN,F5CQ57_HUMAN,F5CIT5_HUMAN	.	UPI000006F0B0	SNV	MICA,missense_variant,p.Pro55Leu,ENST00000449934,;MICA,missense_variant,p.Pro42Leu,ENST00000421350,;HCP5,intron_variant,,ENST00000414046,;	218	193	212	SUCCESS
PPIL1	51645	.	GRCh37	6	36839673	36839673	+	intron_variant	Intron	SNP	C	C	G	rs772430665	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	57	59	0	ENST00000373699.5:c.57-25G>C		p.*19*	ENST00000373699	NM_016059.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4826.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCCAGTA	NONE	byFrequency	.	.	.	.	ENSP00000362803	.	.	.	.	.	.	.	.	.	.	rs772430665	.	PASS	ENST00000373699	Transcript	.	.	ENSG00000137168	9260	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPIL1_HUMAN	PPIL1	HGNC	.	.	UPI000004C600	SNV	C6orf89,5_prime_UTR_variant,,ENST00000510325,;C6orf89,5_prime_UTR_variant,,ENST00000359359,;PPIL1,intron_variant,,ENST00000373699,;	.	59	111	SUCCESS
KCNK16	83795	.	GRCh37	6	39285579	39285579	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746438375	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	58	0	ENST00000373229.5:c.478C>A	p.Arg160Ser	p.R160S	ENST00000373229	NM_032115.3	160	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47421.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACGGTCCT	NONE	byFrequency	.	Superfamily_domains:SSF81324,Superfamily_domains:SSF81324,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF56	.	.	ENSP00000391498	.	3/5	.	.	.	.	.	.	.	.	rs746438375	3/5	PASS	ENST00000425054	Transcript	.	.	ENSG00000095981	14464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.17)	.	KCNKG_HUMAN	KCNK16	HGNC	.	.	UPI00006838F1	SNV	KCNK16,missense_variant,p.Arg160Ser,ENST00000425054,;KCNK16,missense_variant,p.Arg160Ser,ENST00000373227,;KCNK16,missense_variant,p.Arg160Ser,ENST00000437525,;KCNK16,missense_variant,p.Arg95Ser,ENST00000507712,;KCNK16,missense_variant,p.Arg160Ser,ENST00000373229,;KCNK17,upstream_gene_variant,,ENST00000373231,;KCNK17,upstream_gene_variant,,ENST00000453413,;KCNK17,upstream_gene_variant,,ENST00000503878,;	478	58	93	SUCCESS
YIPF3	25844	.	GRCh37	6	43480544	43480544	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	31	141	0	ENST00000372422.2:c.735C>G	p.Phe245Leu	p.F245L	ENST00000372422	NM_015388.3	245	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS4899.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTAGAAGAG	NONE	.	.	hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14,Transmembrane_helices:TMhelix	.	.	ENSP00000361499	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000372422	Transcript	.	.	ENSG00000137207	21023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	YIPF3_HUMAN	YIPF3	HGNC	Q5JTD5_HUMAN,D6RGY8_HUMAN	.	UPI0000037775	SNV	YIPF3,missense_variant,p.Phe251Leu,ENST00000506469,;YIPF3,missense_variant,p.Phe211Leu,ENST00000503972,;YIPF3,missense_variant,p.Phe245Leu,ENST00000372422,;POLR1C,intron_variant,,ENST00000428025,;POLR1C,upstream_gene_variant,,ENST00000372389,;POLR1C,upstream_gene_variant,,ENST00000372344,;LRRC73,upstream_gene_variant,,ENST00000372441,;POLR1C,upstream_gene_variant,,ENST00000304004,;YIPF3,downstream_gene_variant,,ENST00000500090,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,downstream_gene_variant,,ENST00000511831,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000455768,;YIPF3,3_prime_UTR_variant,,ENST00000416380,;YIPF3,3_prime_UTR_variant,,ENST00000460547,;YIPF3,non_coding_transcript_exon_variant,,ENST00000503147,;YIPF3,non_coding_transcript_exon_variant,,ENST00000512713,;YIPF3,non_coding_transcript_exon_variant,,ENST00000514627,;YIPF3,downstream_gene_variant,,ENST00000488966,;POLR1C,upstream_gene_variant,,ENST00000455605,;YIPF3,downstream_gene_variant,,ENST00000460903,;YIPF3,downstream_gene_variant,,ENST00000502714,;POLR1C,upstream_gene_variant,,ENST00000488601,;POLR1C,upstream_gene_variant,,ENST00000481352,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,downstream_gene_variant,,ENST00000372417,;	918	141	167	SUCCESS
RIOK1	83732	.	GRCh37	6	7390192	7390192	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	29	74	0	ENST00000379834.2:c.-44C>A		p.*15*	ENST00000379834	NM_031480.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4500.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTCCTTTC	NONE	.	.	.	.	.	ENSP00000369162	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000379834	Transcript	.	.	ENSG00000124784	18656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIOK1_HUMAN	RIOK1	HGNC	Q9H2L9_HUMAN	.	UPI000003FDCE	SNV	RIOK1,5_prime_UTR_variant,,ENST00000379834,;CAGE1,upstream_gene_variant,,ENST00000512086,;CAGE1,upstream_gene_variant,,ENST00000502583,;CAGE1,upstream_gene_variant,,ENST00000379918,;CAGE1,upstream_gene_variant,,ENST00000338150,;CAGE1,upstream_gene_variant,,ENST00000512691,;CAGE1,upstream_gene_variant,,ENST00000296742,;CAGE1,upstream_gene_variant,,ENST00000509324,;RIOK1,5_prime_UTR_variant,,ENST00000475351,;CAGE1,upstream_gene_variant,,ENST00000442019,;CAGE1,upstream_gene_variant,,ENST00000458291,;	464	74	105	SUCCESS
CUX1	1523	.	GRCh37	7	101877505	101877505	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	37	0	ENST00000292535.7:c.3607C>T	p.Arg1203Trp	p.R1203W	ENST00000292535	NM_181552.3	1203	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS56498.1	3640	MUTECT|MUSE	.	TGAAACGGATG	NONE	.	.	PROSITE_profiles:PS51042,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043,Superfamily_domains:SSF47413	.	.	ENSP00000353401	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000360264	Transcript	.	.	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,missense_variant,p.Arg1101Trp,ENST00000546411,;CUX1,missense_variant,p.Arg1045Trp,ENST00000556210,;CUX1,missense_variant,p.Arg1181Trp,ENST00000549414,;CUX1,missense_variant,p.Arg1214Trp,ENST00000360264,;CUX1,missense_variant,p.Arg1203Trp,ENST00000292535,;CUX1,missense_variant,p.Arg1147Trp,ENST00000550008,;CUX1,intron_variant,,ENST00000437600,;CUX1,intron_variant,,ENST00000547394,;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000425244,;CUX1,intron_variant,,ENST00000393824,;AC005088.1,downstream_gene_variant,,ENST00000580604,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	3660	37	34	SUCCESS
KMT2E	55904	.	GRCh37	7	104741930	104741930	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	8	0	ENST00000257745.4:c.1781G>A	p.Arg594Lys	p.R594K	ENST00000257745	NM_018682.3	594	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS34723.1	1781	MUTECT|MUSE	.	AAAGAGAGAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.067)	.	deleterious(0.02)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Arg594Lys,ENST00000311117,;KMT2E,missense_variant,p.Arg5Lys,ENST00000479838,;KMT2E,missense_variant,p.Arg594Lys,ENST00000257745,;KMT2E,missense_variant,p.Arg594Lys,ENST00000334877,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;CTB-152G17.6,downstream_gene_variant,,ENST00000607968,;KMT2E,missense_variant,p.Arg594Lys,ENST00000334884,;	2326	8	11	SUCCESS
ST7-OT4	338069	.	GRCh37	7	116596768	116596768	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	55	0	ENST00000397750.3:c.361A>G	p.Ile121Val	p.I121V	ENST00000397750		121	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCATATTT	NONE	.	.	.	.	.	ENSP00000380858	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000397750	Transcript	.	.	ENSG00000214188	18835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious_low_confidence(0)	.	.	ST7-OT4	HGNC	A8MTU0_HUMAN	.	UPI000020F980	SNV	ST7-OT4,missense_variant,p.Ile23Val,ENST00000597499,;ST7-OT4,missense_variant,p.Ile121Val,ENST00000397751,;ST7-OT4,missense_variant,p.Ile121Val,ENST00000397750,;ST7,intron_variant,,ENST00000393449,;ST7,intron_variant,,ENST00000417919,;ST7,intron_variant,,ENST00000446490,;ST7,intron_variant,,ENST00000393451,;ST7,intron_variant,,ENST00000393446,;ST7,intron_variant,,ENST00000323984,;ST7,intron_variant,,ENST00000265437,;ST7,intron_variant,,ENST00000421345,;ST7-AS1,upstream_gene_variant,,ENST00000456775,;ST7-OT4,intron_variant,,ENST00000471110,;ST7-OT4,intron_variant,,ENST00000470996,;ST7-OT4,intron_variant,,ENST00000466018,;ST7,intron_variant,,ENST00000438863,;ST7,intron_variant,,ENST00000443979,;	902	55	59	SUCCESS
PAX4	5078	.	GRCh37	7	127255087	127255087	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	65	0	ENST00000341640.2:c.183A>G	p.Pro61=	p.P61=	ENST00000341640	NM_006193.2	61	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5797.1	183	MUTECT|MUSE	.	CCCTTTGGCTC	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Gene3D:1.10.10.10,Pfam_domain:PF00292,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,PROSITE_profiles:PS51057	.	.	ENSP00000339906	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000341640	Transcript	.	.	ENSG00000106331	8618	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,synonymous_variant,p.%3D,ENST00000463946,;PAX4,synonymous_variant,p.%3D,ENST00000338516,;PAX4,synonymous_variant,p.%3D,ENST00000378740,;PAX4,synonymous_variant,p.%3D,ENST00000341640,;PAX4,synonymous_variant,p.%3D,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;	389	65	74	SUCCESS
INTS1	26173	.	GRCh37	7	1535088	1535088	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773976282	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	31	0	ENST00000404767.3:c.1813C>A	p.Pro605Thr	p.P605T	ENST00000404767	NM_001080453.2	605	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47526.1	1813	MUTECT|MUSE	.	CTTAGGGGCGA	NONE	.	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	.	.	ENSP00000385722	.	13/48	.	.	.	.	.	.	.	.	rs773976282	13/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	deleterious(0.04)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Pro605Thr,ENST00000404767,;INTS1,missense_variant,p.Pro733Thr,ENST00000389470,;INTS1,non_coding_transcript_exon_variant,,ENST00000496988,;INTS1,downstream_gene_variant,,ENST00000493531,;INTS1,upstream_gene_variant,,ENST00000468115,;	1899	31	40	SUCCESS
TRGC1	6966	.	GRCh37	7	38305036	38305036	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770761246	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	62	164	0	ENST00000443402.2:c.245T>C	p.Leu82Pro	p.L82P	ENST00000443402	NM_001003806.1	82	cTg/cCg	0	.	.	.	.	.	G	L/P	TR_C_gene	YES	.	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAGTGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19256,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000404817	.	1/3	.	.	.	.	.	.	.	.	rs770761246	1/3	PASS	ENST00000443402	Transcript	.	.	ENSG00000211689	12275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	tolerated(0.1)	.	.	TRGC1	HGNC	Q0VGM3_HUMAN	.	UPI0000F3036A	SNV	TRGC1,missense_variant,p.Leu82Pro,ENST00000443402,;TRGJ1,downstream_gene_variant,,ENST00000390337,;	244	164	218	SUCCESS
GLI3	2737	.	GRCh37	7	42262748	42262748	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	86	0	ENST00000395925.3:c.105C>T	p.Ala35=	p.A35=	ENST00000395925	NM_000168.5	35	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5465.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGCAAC	NONE	.	.	.	.	.	ENSP00000379258	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,synonymous_variant,p.%3D,ENST00000448703,;GLI3,synonymous_variant,p.%3D,ENST00000437480,;GLI3,synonymous_variant,p.%3D,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000428534,;	190	86	71	SUCCESS
USP42	84132	.	GRCh37	7	6194392	6194392	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	20	0	ENST00000306177.5:c.3207C>T	p.Tyr1069=	p.Y1069=	ENST00000306177	NM_032172.2	1069	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS47535.1	3207	RADIA|SOMATICSNIPER|MUSE	.	CTGTACGCTGC	NONE	.	.	hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	.	ENSP00000301962	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,downstream_gene_variant,,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	3365	20	18	SUCCESS
RGS22	26166	.	GRCh37	8	100994297	100994297	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	79	0	ENST00000360863.6:c.3228T>C	p.Ile1076=	p.I1076=	ENST00000360863	NM_015668.3	1076	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS43758.1	3228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTAATCTT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845,Gene3D:1.10.167.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000354109	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,synonymous_variant,p.%3D,ENST00000523287,;RGS22,synonymous_variant,p.%3D,ENST00000523437,;RGS22,synonymous_variant,p.%3D,ENST00000360863,;RGS22,upstream_gene_variant,,ENST00000517843,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;	3423	79	88	SUCCESS
RIMS2	9699	.	GRCh37	8	104930679	104930679	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	102	0	ENST00000406091.3:c.2047C>A	p.Arg683=	p.R683=	ENST00000406091	NM_001100117.2	683	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS55269.1	2047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCGCGAATA	NONE	.	.	hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	9/24	.	.	.	.	.	.	.	.	COSM2149316,COSM2149315,COSM2149312,COSM2149314,COSM2149313	9/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,synonymous_variant,p.%3D,ENST00000408894,;RIMS2,synonymous_variant,p.%3D,ENST00000504942,;RIMS2,synonymous_variant,p.%3D,ENST00000507740,;RIMS2,synonymous_variant,p.%3D,ENST00000436393,;RIMS2,synonymous_variant,p.%3D,ENST00000406091,;RIMS2,synonymous_variant,p.%3D,ENST00000515551,;RIMS2,synonymous_variant,p.%3D,ENST00000262231,;RIMS2,non_coding_transcript_exon_variant,,ENST00000501515,;RIMS2,non_coding_transcript_exon_variant,,ENST00000507677,;RIMS2,non_coding_transcript_exon_variant,,ENST00000511046,;RIMS2,non_coding_transcript_exon_variant,,ENST00000512598,;	2047	102	107	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110417294	110417294	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	84	0	ENST00000378402.5:c.1604C>T	p.Pro535Leu	p.P535L	ENST00000378402	NM_177531.4	535	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47911.1	1604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCATGTG	NONE	.	.	.	.	.	ENSP00000367655	.	16/78	.	.	.	.	.	.	.	.	COSM387926	16/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.019)	.	tolerated(0.12)	1	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Pro535Leu,ENST00000378402,;	1708	84	91	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110539189	110539189	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	112	0	ENST00000378402.5:c.12661G>T	p.Gly4221Ter	p.G4221*	ENST00000378402	NM_177531.4	4221	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS47911.1	12661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTGGAAGA	NONE	.	.	.	.	.	ENSP00000367655	.	77/78	.	.	.	.	.	.	.	.	.	77/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,stop_gained,p.Gly1149Ter,ENST00000526472,;PKHD1L1,stop_gained,p.Gly4221Ter,ENST00000378402,;PKHD1L1,non_coding_transcript_exon_variant,,ENST00000534623,;	12765	112	115	SUCCESS
TG	7038	.	GRCh37	8	133953779	133953779	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	70	213	0	ENST00000220616.4:c.5225T>C	p.Val1742Ala	p.V1742A	ENST00000220616	NM_003235.4	1742	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS34944.1	5225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTTCAAG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	26/48	.	.	.	.	.	.	.	.	.	26/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	deleterious(0.02)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Val1742Ala,ENST00000220616,;TG,missense_variant,p.Val1685Ala,ENST00000377869,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;	5265	214	262	SUCCESS
PLEC	5339	.	GRCh37	8	144995161	144995161	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782066196	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	44	0	ENST00000322810.4:c.9239G>A	p.Arg3080Gln	p.R3080Q	ENST00000322810	NM_201380.2	3080	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS43772.1	9239	RADIA|MUSE	.	ACTGCCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	.	.	ENSP00000323856	.	32/32	.	.	.	.	.	.	.	.	rs782066196	32/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.459)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Arg3080Gln,ENST00000322810,;PLEC,missense_variant,p.Arg2966Gln,ENST00000527096,;PLEC,missense_variant,p.Arg2943Gln,ENST00000345136,;PLEC,missense_variant,p.Arg2947Gln,ENST00000357649,;PLEC,missense_variant,p.Arg2911Gln,ENST00000398774,;PLEC,missense_variant,p.Arg2943Gln,ENST00000354589,;PLEC,missense_variant,p.Arg2929Gln,ENST00000356346,;PLEC,missense_variant,p.Arg2970Gln,ENST00000436759,;PLEC,missense_variant,p.Arg2921Gln,ENST00000354958,;PLEC,downstream_gene_variant,,ENST00000527303,;	9409	44	36	SUCCESS
BMP1	649	.	GRCh37	8	22052004	22052004	+	synonymous_variant	Silent	SNP	G	G	A	rs199778498	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	49	118	0	ENST00000306385.5:c.1344G>A	p.Ser448=	p.S448=	ENST00000306385	NM_006129.4	448	tcG/tcA	0	.	A:0.0008	.	A:0	.	A	S	protein_coding	YES	CCDS6026.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCGCCCAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF305,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	A:0	.	ENSP00000305714	A:0	11/20	.	.	.	.	.	.	.	.	rs199778498	11/20	PASS	ENST00000306385	Transcript	1	A:0.0002	ENSG00000168487	1067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	BMP1_HUMAN	BMP1	HGNC	.	.	UPI0000049818	SNV	BMP1,synonymous_variant,p.%3D,ENST00000306385,;BMP1,synonymous_variant,p.%3D,ENST00000306349,;BMP1,synonymous_variant,p.%3D,ENST00000397816,;BMP1,synonymous_variant,p.%3D,ENST00000397814,;BMP1,3_prime_UTR_variant,,ENST00000354870,;BMP1,non_coding_transcript_exon_variant,,ENST00000523749,;BMP1,synonymous_variant,p.%3D,ENST00000471755,;BMP1,synonymous_variant,p.%3D,ENST00000521385,;BMP1,synonymous_variant,p.%3D,ENST00000520970,;BMP1,3_prime_UTR_variant,,ENST00000483364,;BMP1,3_prime_UTR_variant,,ENST00000518913,;BMP1,3_prime_UTR_variant,,ENST00000520626,;BMP1,3_prime_UTR_variant,,ENST00000520982,;BMP1,non_coding_transcript_exon_variant,,ENST00000517324,;BMP1,downstream_gene_variant,,ENST00000523457,;BMP1,upstream_gene_variant,,ENST00000522332,;	2014	118	108	SUCCESS
KIF13B	23303	.	GRCh37	8	28950346	28950346	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	82	0	ENST00000524189.1:c.4374G>C	p.Val1458=	p.V1458=	ENST00000524189	NM_015254.3	1458	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS55217.1	4374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGCACGAA	NONE	.	.	.	.	.	ENSP00000427900	.	37/40	.	.	.	.	.	.	.	.	.	37/40	PASS	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,synonymous_variant,p.%3D,ENST00000523130,;KIF13B,synonymous_variant,p.%3D,ENST00000524189,;KIF13B,5_prime_UTR_variant,,ENST00000404075,;	4413	82	55	SUCCESS
ZMAT4	79698	.	GRCh37	8	40532341	40532341	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	24	95	0	ENST00000297737.6:c.459G>A	p.Trp153Ter	p.W153*	ENST00000297737	NM_024645.2	153	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS34885.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAACCAGGC	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19,PROSITE_patterns:PS00028,Pfam_domain:PF12171,SMART_domains:SM00451,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000297737	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,stop_gained,p.Trp153Ter,ENST00000297737,;ZMAT4,stop_gained,p.Trp153Ter,ENST00000519406,;ZMAT4,intron_variant,,ENST00000315769,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000519806,;	606	95	112	SUCCESS
SLC7A13	157724	.	GRCh37	8	87235302	87235302	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	57	0	ENST00000297524.3:c.716C>T	p.Pro239Leu	p.P239L	ENST00000297524	NM_138817.2	239	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34917.1	716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGGGAATT	NONE	.	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000297524	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000297524	Transcript	.	.	ENSG00000164893	23092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	tolerated(0.07)	.	S7A13_HUMAN	SLC7A13	HGNC	.	.	UPI000006DF39	SNV	SLC7A13,missense_variant,p.Pro230Leu,ENST00000419776,;SLC7A13,missense_variant,p.Pro239Leu,ENST00000297524,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;	820	57	78	SUCCESS
RMDN1	51115	.	GRCh37	8	87492510	87492511	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	106	0	ENST00000406452.3:c.636dup	p.Ile213TyrfsTer18	p.I213Yfs*18	ENST00000406452	NM_016033.2	212	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS34918.1	636-637	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAATACCCA	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR16056	.	.	ENSP00000385927	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000406452	Transcript	.	.	ENSG00000176623	24285	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RMD1_HUMAN	RMDN1	HGNC	E5RGC8_HUMAN	.	UPI0000073168	insertion	RMDN1,frameshift_variant,p.Ile183TyrfsTer18,ENST00000519966,;RMDN1,frameshift_variant,p.Ile19TyrfsTer18,ENST00000522942,;RMDN1,frameshift_variant,p.Ile59TyrfsTer18,ENST00000519639,;RMDN1,frameshift_variant,p.Ile213TyrfsTer18,ENST00000406452,;RMDN1,frameshift_variant,p.Ile169TyrfsTer18,ENST00000523911,;RMDN1,frameshift_variant,p.Ile77TyrfsTer18,ENST00000520719,;RMDN1,frameshift_variant,p.Ile183TyrfsTer18,ENST00000430676,;RMDN1,frameshift_variant,p.Ile159TyrfsTer18,ENST00000519789,;WWP1,downstream_gene_variant,,ENST00000520798,;CPNE3,upstream_gene_variant,,ENST00000198765,;RMDN1,upstream_gene_variant,,ENST00000517710,;RMDN1,3_prime_UTR_variant,,ENST00000524172,;RMDN1,non_coding_transcript_exon_variant,,ENST00000519145,;RMDN1,non_coding_transcript_exon_variant,,ENST00000518390,;RMDN1,downstream_gene_variant,,ENST00000522804,;RMDN1,upstream_gene_variant,,ENST00000517821,;NTAN1P2,downstream_gene_variant,,ENST00000515730,;	796-797	106	135	SUCCESS
DECR1	1666	.	GRCh37	8	91031397	91031397	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	69	0	ENST00000220764.2:c.414T>C	p.Pro138=	p.P138=	ENST00000220764	NM_001359.1	138	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6250.1	414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTAATGT	NONE	.	.	hmmpanther:PTHR24315,hmmpanther:PTHR24315:SF2,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000220764	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000220764	Transcript	1	.	ENSG00000104325	2753	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DECR_HUMAN	DECR1	HGNC	Q7LDK6_HUMAN,E5RJD2_HUMAN	.	UPI000004C795	SNV	DECR1,synonymous_variant,p.%3D,ENST00000517761,;DECR1,synonymous_variant,p.%3D,ENST00000520227,;DECR1,synonymous_variant,p.%3D,ENST00000522161,;DECR1,synonymous_variant,p.%3D,ENST00000220764,;DECR1,synonymous_variant,p.%3D,ENST00000519410,;DECR1,non_coding_transcript_exon_variant,,ENST00000523447,;DECR1,non_coding_transcript_exon_variant,,ENST00000519007,;DECR1,non_coding_transcript_exon_variant,,ENST00000524326,;DECR1,downstream_gene_variant,,ENST00000521668,;DECR1,3_prime_UTR_variant,,ENST00000517314,;DECR1,3_prime_UTR_variant,,ENST00000519328,;DECR1,3_prime_UTR_variant,,ENST00000518725,;DECR1,3_prime_UTR_variant,,ENST00000521603,;DECR1,3_prime_UTR_variant,,ENST00000517597,;DECR1,downstream_gene_variant,,ENST00000522583,;	502	69	94	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123298712	123298712	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	64	0	ENST00000349780.4:c.600A>G	p.Ser200=	p.S200=	ENST00000349780	NM_018249.5	200	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6823.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTGAAAG	NONE	.	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	7/38	.	.	.	.	.	.	.	.	.	7/38	PASS	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,synonymous_variant,p.%3D,ENST00000349780,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360822,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360190,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000359309,;CDK5RAP2,upstream_gene_variant,,ENST00000482047,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000472883,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000480112,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000473282,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000481266,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	780	64	72	SUCCESS
TLE1	7088	.	GRCh37	9	84208092	84208092	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1440453806	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	52	118	0	ENST00000376499.3:c.1429C>T	p.Gln477Ter	p.Q477*	ENST00000376499	NM_005077.3	477	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6661.1	1429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGGCGAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR10814	.	.	ENSP00000365682	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,stop_gained,p.Gln477Ter,ENST00000376499,;	2494	118	139	SUCCESS
BHLHB9	80823	.	GRCh37	X	102004068	102004068	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766817967	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	102	332	0	ENST00000361229.4:c.145G>A	p.Gly49Arg	p.G49R	ENST00000361229	NM_030639.2	49	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14502.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGGGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18	.	.	ENSP00000361820	.	4/4	.	.	.	.	.	.	.	.	rs766817967	4/4	PASS	ENST00000372735	Transcript	.	.	ENSG00000198908	29353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.16)	.	BHLH9_HUMAN	BHLHB9	HGNC	.	.	UPI00001C1D50	SNV	BHLHB9,missense_variant,p.Gly49Arg,ENST00000448867,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000372735,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000447531,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000457056,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000361229,;BHLHB9,downstream_gene_variant,,ENST00000486988,;BHLHB9,downstream_gene_variant,,ENST00000483294,;	730	332	350	SUCCESS
AMOT	154796	.	GRCh37	X	112022293	112022293	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	37	238	0	ENST00000371959.3:c.3089G>C	p.Ser1030Thr	p.S1030T	ENST00000371959	NM_001113490.1	1030	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS48154.1	3089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACTTGCA	BUFFER|p.P1028_A1029insP|c.3080_3081insTCC|6,BUFFER|p.P619_A620insP|c.1853_1854insTCC|6	.	.	hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF6	.	.	ENSP00000361027	.	10/11	.	.	.	.	.	.	.	.	COSM224135,COSM224136	10/11	PASS	ENST00000371959	Transcript	.	.	ENSG00000126016	17810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.358)	.	.	1,1	AMOT_HUMAN	AMOT	HGNC	E7ERM3_HUMAN	.	UPI000050ED33	SNV	AMOT,missense_variant,p.Ser1030Thr,ENST00000371959,;AMOT,missense_variant,p.Ser798Thr,ENST00000371962,;AMOT,missense_variant,p.Ser621Thr,ENST00000304758,;AMOT,missense_variant,p.Ser1030Thr,ENST00000524145,;AMOT,downstream_gene_variant,,ENST00000371958,;MIR4329,downstream_gene_variant,,ENST00000582643,;	3089	238	226	SUCCESS
SLC9A6	10479	.	GRCh37	X	135067806	135067806	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	60	0	ENST00000370698.3:c.145G>A	p.Glu49Lys	p.E49K	ENST00000370698	NM_006359.2	49	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44003.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAGAGGCT	NONE	.	.	hmmpanther:PTHR10110:SF94,hmmpanther:PTHR10110,Prints_domain:PR01088	.	.	ENSP00000359729	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000370695	Transcript	.	.	ENSG00000198689	11079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.17)	.	SL9A6_HUMAN	SLC9A6	HGNC	Q8WYK8_HUMAN,B4DLY9_HUMAN,B4DK83_HUMAN	.	UPI0000062320	SNV	SLC9A6,missense_variant,p.Glu49Lys,ENST00000370695,;SLC9A6,missense_variant,p.Glu49Lys,ENST00000370698,;SLC9A6,5_prime_UTR_variant,,ENST00000370701,;	180	60	56	SUCCESS
SLITRK2	84631	.	GRCh37	X	144903985	144903985	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	31	148	0	ENST00000370490.1:c.42C>A	p.Ala14=	p.A14=	ENST00000370490		14	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14680.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCGGGAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;SLITRK2,synonymous_variant,p.%3D,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	4297	148	179	SUCCESS
FLNA	2316	.	GRCh37	X	153586830	153586830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	27	144	0	ENST00000369850.3:c.4581T>A	p.Asp1527Glu	p.D1527E	ENST00000369850	NM_001110556.1	1527	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS48194.1	4581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCATCTCC	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296,Superfamily_domains:SSF81296	.	.	ENSP00000358866	.	27/48	.	.	.	.	.	.	.	.	.	27/48	PASS	ENST00000369850	Transcript	.	.	ENSG00000196924	3754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	FLNA_HUMAN	FLNA	HGNC	Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN	.	UPI000013C596	SNV	FLNA,missense_variant,p.Asp1527Glu,ENST00000422373,;FLNA,missense_variant,p.Asp1527Glu,ENST00000360319,;FLNA,missense_variant,p.Asp1527Glu,ENST00000344736,;FLNA,missense_variant,p.Asp1527Glu,ENST00000369850,;FLNA,upstream_gene_variant,,ENST00000438732,;FLNA,upstream_gene_variant,,ENST00000369856,;FLNA,non_coding_transcript_exon_variant,,ENST00000466319,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,non_coding_transcript_exon_variant,,ENST00000490936,;FLNA,upstream_gene_variant,,ENST00000474072,;FLNA,upstream_gene_variant,,ENST00000415241,;	4818	144	155	SUCCESS
CXorf58	254158	.	GRCh37	X	23953337	23953337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	31	0	ENST00000379211.3:c.580C>A	p.Pro194Thr	p.P194T	ENST00000379211	NM_001169574.1	194	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS14209.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCTGCA	NONE	.	.	.	.	.	ENSP00000368511	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000379211	Transcript	.	.	ENSG00000165182	26356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CX058_HUMAN	CXorf58	HGNC	.	.	UPI00001AEC5F	SNV	CXorf58,missense_variant,p.Pro194Thr,ENST00000379211,;	1129	31	23	SUCCESS
DMD	1756	.	GRCh37	X	31165436	31165436	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	8	137	0	ENST00000357033.4:c.10753C>T	p.Gln3585Ter	p.Q3585*	ENST00000357033	NM_004007.2	3585	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14233.1	10753	MUTECT|MUSE	.	CAGCTGTTTAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	75/79	.	.	.	.	.	.	.	.	.	75/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,stop_gained,p.Gln3585Ter,ENST00000357033,;DMD,stop_gained,p.Gln1268Ter,ENST00000358062,;DMD,stop_gained,p.Gln517Ter,ENST00000378723,;DMD,stop_gained,p.Gln1015Ter,ENST00000343523,;DMD,stop_gained,p.Gln407Ter,ENST00000378680,;DMD,stop_gained,p.Gln1125Ter,ENST00000378707,;DMD,stop_gained,p.Gln1125Ter,ENST00000474231,;DMD,stop_gained,p.Gln3581Ter,ENST00000378677,;DMD,stop_gained,p.Gln504Ter,ENST00000361471,;DMD,stop_gained,p.Gln1112Ter,ENST00000359836,;DMD,stop_gained,p.Gln1015Ter,ENST00000541735,;DMD,stop_gained,p.Gln517Ter,ENST00000378702,;DMD,intron_variant,,ENST00000481143,;	10960	137	144	SUCCESS
CXorf30	0	.	GRCh37	X	36319234	36319234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	14	218	0	ENST00000378657.4:c.248A>T	p.Lys83Met	p.K83M	ENST00000378657	NM_001098843.4	83	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS55396.1	248	MUTECT|MUSE	.	ACTGAAGTTAA	NONE	.	.	hmmpanther:PTHR23053:SF7,hmmpanther:PTHR23053	.	.	ENSP00000367926	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000378657	Transcript	.	.	ENSG00000205081	27298	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,missense_variant,p.Lys83Met,ENST00000378657,;CXorf30,missense_variant,p.Lys368Met,ENST00000378653,;	896	218	242	SUCCESS
GPR82	27197	.	GRCh37	X	41586979	41586979	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	53	168	1	ENST00000302548.4:c.700T>A	p.Cys234Ser	p.C234S	ENST00000302548	NM_080817.4	234	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS14259.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTGTACG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000303549	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302548	Transcript	.	.	ENSG00000171657	4533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.5)	.	GPR82_HUMAN	GPR82	HGNC	.	.	UPI000003BCD1	SNV	GPR82,missense_variant,p.Cys234Ser,ENST00000302548,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;GPR82,upstream_gene_variant,,ENST00000497180,;	940	169	173	SUCCESS
UBA1	7317	.	GRCh37	X	47072228	47072228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	83	280	1	ENST00000335972.6:c.2612A>G	p.Glu871Gly	p.E871G	ENST00000335972	NM_003334.3	871	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14275.1	2612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGAAAACT	NONE	.	.	hmmpanther:PTHR10953:SF136,hmmpanther:PTHR10953,TIGRFAM_domain:TIGR01408,Gene3D:1y8qD02,Pfam_domain:PF02134,Superfamily_domains:SSF69572	.	.	ENSP00000338413	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000335972	Transcript	.	.	ENSG00000130985	12469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.15)	.	UBA1_HUMAN	UBA1	HGNC	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN	.	UPI0000137946	SNV	UBA1,missense_variant,p.Glu871Gly,ENST00000335972,;UBA1,missense_variant,p.Glu871Gly,ENST00000377351,;UBA1,missense_variant,p.Glu319Gly,ENST00000377269,;	2795	281	343	SUCCESS
GPR173	54328	.	GRCh37	X	53106558	53106558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	39	0	ENST00000332582.4:c.755G>A	p.Gly252Glu	p.G252E	ENST00000332582	NM_018969.5	252	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS14349.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGGCCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR19268:SF4,hmmpanther:PTHR19268,Pfam_domain:PF00001	.	.	ENSP00000331600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332582	Transcript	.	.	ENSG00000184194	18186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	GP173_HUMAN	GPR173	HGNC	J3KPD1_HUMAN	.	UPI0000050480	SNV	GPR173,missense_variant,p.Gly252Glu,ENST00000332582,;TSPYL2,upstream_gene_variant,,ENST00000375442,;GPR173,downstream_gene_variant,,ENST00000375466,;TSPYL2,upstream_gene_variant,,ENST00000553557,;	1246	39	46	SUCCESS
PFKFB1	5207	.	GRCh37	X	54989780	54989780	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	47	151	0	ENST00000375006.3:c.133G>A	p.Val45Met	p.V45M	ENST00000375006	NM_001271804.1	45	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14364.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCACCATTG	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.300,Pfam_domain:PF01591,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF52540	.	.	ENSP00000364145	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Val45Met,ENST00000374992,;PFKFB1,missense_variant,p.Val45Met,ENST00000375006,;PFKFB1,intron_variant,,ENST00000545676,;	204	151	153	SUCCESS
ARR3	407	.	GRCh37	X	69501565	69501565	+	synonymous_variant	Silent	SNP	C	C	T	rs1569223613	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	80	0	ENST00000307959.8:c.1116C>T	p.Gly372=	p.G372=	ENST00000307959	NM_004312.2	372	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14399.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGCGAGGA	NONE	.	.	hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF19,Prints_domain:PR00309	.	.	ENSP00000311538	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000307959	Transcript	.	.	ENSG00000120500	710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARRC_HUMAN	ARR3	HGNC	D6RCT3_HUMAN	.	UPI0000457850	SNV	ARR3,synonymous_variant,p.%3D,ENST00000307959,;ARR3,downstream_gene_variant,,ENST00000374495,;RAB41,upstream_gene_variant,,ENST00000374473,;RAB41,upstream_gene_variant,,ENST00000276066,;RAB41,upstream_gene_variant,,ENST00000509895,;PDZD11,downstream_gene_variant,,ENST00000239666,;	1167	80	93	SUCCESS
CHIC1	53344	.	GRCh37	X	72783227	72783227	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	93	0	ENST00000373502.5:c.107C>A	p.Ser36Ter	p.S36*	ENST00000373502	NM_001039840.2	36	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS35335.2	107	MUTECT|MUSE	.	GTCGTCGTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13005,hmmpanther:PTHR13005:SF2,Gene3D:1.25.10.10	.	.	ENSP00000362601	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373502	Transcript	.	.	ENSG00000204116	1934	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHIC1_HUMAN	CHIC1	HGNC	B7Z4S5_HUMAN	.	UPI0000160F74	SNV	CHIC1,stop_gained,p.Ser36Ter,ENST00000373502,;CHIC1,stop_gained,p.Ser36Ter,ENST00000373504,;MAP2K4P1,upstream_gene_variant,,ENST00000602584,;CHIC1,stop_gained,p.Ser29Ter,ENST00000498407,;CHIC1,upstream_gene_variant,,ENST00000498318,;	184	93	113	SUCCESS
GPR174	84636	.	GRCh37	X	78426850	78426850	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	341	112	407	0	ENST00000276077.1:c.346C>G	p.Arg116Gly	p.R116G	ENST00000276077	NM_032553.1	116	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS14443.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGACGATTT	CODON|p.R115Q|c.344G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24237:SF4,hmmpanther:PTHR24237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01157,Prints_domain:PR00237	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,missense_variant,p.Arg116Gly,ENST00000276077,;	382	407	453	SUCCESS
PCDH15	65217	.	GRCh37	10	56129002	56129002	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs929285864	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	80	0	ENST00000320301.6:c.352G>C	p.Val118Leu	p.V118L	ENST00000320301	NM_033056.3	118	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS44404.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACCTGCA	NONE	.	.	SMART_domains:SM00112	.	.	ENSP00000354950	.	5/34	.	.	.	.	.	.	.	.	.	5/34	nonpreferredpair	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.24)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Val118Leu,ENST00000437009,;PCDH15,missense_variant,p.Val96Leu,ENST00000395433,;PCDH15,missense_variant,p.Val118Leu,ENST00000395445,;PCDH15,missense_variant,p.Val118Leu,ENST00000320301,;PCDH15,missense_variant,p.Val118Leu,ENST00000395432,;PCDH15,missense_variant,p.Val118Leu,ENST00000373955,;PCDH15,missense_variant,p.Val96Leu,ENST00000373957,;PCDH15,missense_variant,p.Val118Leu,ENST00000395440,;PCDH15,missense_variant,p.Val118Leu,ENST00000361849,;PCDH15,missense_variant,p.Val118Leu,ENST00000395438,;PCDH15,missense_variant,p.Val118Leu,ENST00000395446,;PCDH15,missense_variant,p.Val118Leu,ENST00000395442,;PCDH15,missense_variant,p.Val123Leu,ENST00000414778,;PCDH15,missense_variant,p.Val118Leu,ENST00000373965,;PCDH15,missense_variant,p.Val118Leu,ENST00000395430,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Val118Leu,ENST00000448885,;PCDH15,missense_variant,p.Val118Leu,ENST00000414367,;PCDH15,intron_variant,,ENST00000373956,;	747	80	69	SUCCESS
MYOF	26509	.	GRCh37	10	95161196	95161196	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs199504349	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	90	0	ENST00000359263.4:c.1096C>T	p.Arg366Ter	p.R366*	ENST00000359263	NM_013451.3	366	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS41551.1	1096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCGGTAGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000352208	.	12/54	.	.	.	.	.	.	.	.	rs199504349	12/54	nonpreferredpair	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,stop_gained,p.Arg366Ter,ENST00000371502,;MYOF,stop_gained,p.Arg366Ter,ENST00000358334,;MYOF,stop_gained,p.Arg366Ter,ENST00000371489,;MYOF,stop_gained,p.Arg366Ter,ENST00000371501,;MYOF,stop_gained,p.Arg366Ter,ENST00000359263,;	1096	90	89	SUCCESS
PLCE1	51196	.	GRCh37	10	96084287	96084287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	48	0	ENST00000260766.3:c.6683C>A	p.Ala2228Glu	p.A2228E	ENST00000260766	NM_016341.3	2228	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS41552.1	6683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCAGGAA	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00314,Pfam_domain:PF00788,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6,PROSITE_profiles:PS50200	.	.	ENSP00000360431	.	30/32	.	.	.	.	.	.	.	.	.	30/32	nonpreferredpair	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,missense_variant,p.Ala2228Glu,ENST00000371380,;PLCE1,missense_variant,p.Ala2228Glu,ENST00000260766,;PLCE1,missense_variant,p.Ala1920Glu,ENST00000371375,;PLCE1,missense_variant,p.Ala1920Glu,ENST00000371385,;NOC3L,intron_variant,,ENST00000543788,;PLCE1,upstream_gene_variant,,ENST00000464214,;	6918	48	51	SUCCESS
MUC5B	727897	.	GRCh37	11	1266818	1266818	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs535181655	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	55	0	ENST00000529681.1:c.8708C>T	p.Ala2903Val	p.A2903V	ENST00000529681	NM_002458.2	2903	gCg/gTg	0	.	T:0	.	T:0.0014	.	T	A/V	protein_coding	YES	CCDS44515.2	8708	SOMATICSNIPER|VARSCANS	.	CCGTGCGGCCG	NONE	by1000G	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	T:0	.	ENSP00000436812	T:0	31/49	.	.	.	.	.	.	.	.	rs535181655	31/49	nonpreferredpair	ENST00000529681	Transcript	.	T:0.0002	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	T:0	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Ala2903Val,ENST00000529681,;MUC5B,missense_variant,p.Ala2906Val,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	8766	55	27	SUCCESS
PSMD13	5719	.	GRCh37	11	251919	251919	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761963967	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	8	156	0	ENST00000532097.1:c.1018G>C	p.Val340Leu	p.V340L	ENST00000532097	NM_002817.3	340	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS44504.1	1024	MUTECT|MUSE	.	CCCGAGTGTTG	NONE	.	.	hmmpanther:PTHR10539,SMART_domains:SM00088	.	.	ENSP00000396937	.	10/11	.	.	.	.	.	.	.	.	rs761963967	10/11	nonpreferredpair	ENST00000431206	Transcript	.	.	ENSG00000185627	9558	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.654)	.	deleterious(0.04)	.	PSD13_HUMAN	PSMD13	HGNC	Q9UNM7_HUMAN	.	UPI00003E5E1D	SNV	PSMD13,missense_variant,p.Val340Leu,ENST00000532097,;PSMD13,missense_variant,p.Val313Leu,ENST00000352303,;PSMD13,missense_variant,p.Val342Leu,ENST00000431206,;PSMD13,intron_variant,,ENST00000526783,;PSMD13,downstream_gene_variant,,ENST00000528906,;PSMD13,non_coding_transcript_exon_variant,,ENST00000532025,;PSMD13,3_prime_UTR_variant,,ENST00000382671,;PSMD13,3_prime_UTR_variant,,ENST00000525665,;PSMD13,non_coding_transcript_exon_variant,,ENST00000529679,;PSMD13,non_coding_transcript_exon_variant,,ENST00000527982,;PSMD13,downstream_gene_variant,,ENST00000527047,;PSMD13,downstream_gene_variant,,ENST00000533717,;PSMD13,downstream_gene_variant,,ENST00000529372,;PSMD13,downstream_gene_variant,,ENST00000534590,;	1097	156	170	SUCCESS
RIN1	9610	.	GRCh37	11	66103889	66103889	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs201184971	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	38	0	ENST00000311320.4:c.-16G>A		p.*6*	ENST00000311320	NM_004292.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS31614.1	.	MUTECT|MUSE	.	TCCTTCGCTTC	NONE	byFrequency|byCluster|by1000G	.	.	T:0.004	.	ENSP00000310406	T:0	1/10	.	.	.	.	.	.	.	.	rs201184971	1/10	nonpreferredpair	ENST00000311320	Transcript	.	T:0.0008	ENSG00000174791	18749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RIN1_HUMAN	RIN1	HGNC	.	.	UPI000013F14D	SNV	RIN1,5_prime_UTR_variant,,ENST00000311320,;RIN1,intron_variant,,ENST00000530056,;BRMS1,downstream_gene_variant,,ENST00000425825,;RIN1,upstream_gene_variant,,ENST00000424433,;BRMS1,downstream_gene_variant,,ENST00000359957,;BRMS1,downstream_gene_variant,,ENST00000524699,;BRMS1,downstream_gene_variant,,ENST00000530756,;RP11-867G23.12,non_coding_transcript_exon_variant,,ENST00000526655,;RIN1,upstream_gene_variant,,ENST00000524804,;RIN1,5_prime_UTR_variant,,ENST00000530745,;RIN1,upstream_gene_variant,,ENST00000534824,;RIN1,upstream_gene_variant,,ENST00000526246,;BRMS1,downstream_gene_variant,,ENST00000534617,;RIN1,upstream_gene_variant,,ENST00000528006,;BRMS1,downstream_gene_variant,,ENST00000527375,;BRMS1,downstream_gene_variant,,ENST00000525127,;BRMS1,downstream_gene_variant,,ENST00000530238,;	112	38	41	SUCCESS
DCHS1	8642	.	GRCh37	11	6655134	6655134	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	114	0	ENST00000299441.3:c.2104A>G	p.Thr702Ala	p.T702A	ENST00000299441	NM_003737.2	702	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7771.1	2104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGTGCCTG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	4/21	.	.	.	.	.	.	.	.	.	4/21	nonpreferredpair	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Thr702Ala,ENST00000299441,;RP11-732A19.6,intron_variant,,ENST00000526633,;	2516	114	112	SUCCESS
FADD	8772	.	GRCh37	11	70049591	70049591	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	124	0	ENST00000301838.4:c.26A>G	p.His9Arg	p.H9R	ENST00000301838	NM_003824.3	9	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS8196.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACTCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50168,hmmpanther:PTHR15077,Gene3D:1.10.533.10,Pfam_domain:PF01335,PIRSF_domain:PIRSF018586,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000301838	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000301838	Transcript	.	.	ENSG00000168040	3573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	deleterious(0)	.	FADD_HUMAN	FADD	HGNC	Q6LCG1_HUMAN,Q6LCB0_HUMAN	.	UPI000012A4D1	SNV	FADD,missense_variant,p.His9Arg,ENST00000301838,;RP11-805J14.5,downstream_gene_variant,,ENST00000527232,;RP11-805J14.5,downstream_gene_variant,,ENST00000526174,;	323	124	49	SUCCESS
LRTOMT	220074	.	GRCh37	11	71806552	71806552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	142	0	ENST00000289488.2:c.565C>A	p.Gln189Lys	p.Q189K	ENST00000289488	NM_001271471.2	189	Cag/Aag	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44668.1	.	MUTECT|MUSE	.	CCAAGCAGAAT	NONE	.	.	.	.	.	ENSP00000409789	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,missense_variant,p.Gln189Lys,ENST00000289488,;LRTOMT,missense_variant,p.Gln189Lys,ENST00000538478,;LRTOMT,missense_variant,p.Gln171Lys,ENST00000423494,;LRTOMT,3_prime_UTR_variant,,ENST00000324866,;LRTOMT,3_prime_UTR_variant,,ENST00000539587,;LRTOMT,intron_variant,,ENST00000440313,;LRTOMT,intron_variant,,ENST00000439209,;LRTOMT,intron_variant,,ENST00000435085,;LRTOMT,intron_variant,,ENST00000541614,;LRTOMT,intron_variant,,ENST00000307198,;LRTOMT,intron_variant,,ENST00000447974,;LAMTOR1,intron_variant,,ENST00000545249,;LRTOMT,intron_variant,,ENST00000419228,;LAMTOR1,intron_variant,,ENST00000535107,;LRTOMT,downstream_gene_variant,,ENST00000539271,;LAMTOR1,downstream_gene_variant,,ENST00000278671,;LRTOMT,downstream_gene_variant,,ENST00000538413,;LRTOMT,downstream_gene_variant,,ENST00000542846,;LAMTOR1,downstream_gene_variant,,ENST00000544594,;LRTOMT,downstream_gene_variant,,ENST00000536917,;LAMTOR1,downstream_gene_variant,,ENST00000538404,;LAMTOR1,downstream_gene_variant,,ENST00000539797,;LRTOMT,3_prime_UTR_variant,,ENST00000535883,;LRTOMT,intron_variant,,ENST00000544409,;LRTOMT,intron_variant,,ENST00000427369,;LAMTOR1,downstream_gene_variant,,ENST00000535872,;LRTOMT,downstream_gene_variant,,ENST00000412777,;LAMTOR1,downstream_gene_variant,,ENST00000541403,;	.	142	84	SUCCESS
GAS2L3	283431	.	GRCh37	12	101017478	101017478	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	62	0	ENST00000266754.5:c.895G>T	p.Val299Phe	p.V299F	ENST00000266754		299	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9079.1	895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGTTTCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF256	.	.	ENSP00000439672	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000539410	Transcript	.	.	ENSG00000139354	27475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious(0.04)	.	GA2L3_HUMAN	GAS2L3	HGNC	H0YIT6_HUMAN,G3V1N3_HUMAN,F8VSB7_HUMAN	.	UPI000000DA3B	SNV	GAS2L3,missense_variant,p.Val299Phe,ENST00000539410,;GAS2L3,missense_variant,p.Val299Phe,ENST00000266754,;GAS2L3,missense_variant,p.Val195Phe,ENST00000537247,;GAS2L3,missense_variant,p.Val299Phe,ENST00000547754,;GAS2L3,upstream_gene_variant,,ENST00000552854,;	1281	62	60	SUCCESS
STAB2	55576	.	GRCh37	12	104060114	104060114	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147674384	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	120	0	ENST00000388887.2:c.2068G>A	p.Ala690Thr	p.A690T	ENST00000388887	NM_017564.9	690	Gct/Act	0	A:0.0002	.	.	.	.	A	A/T	protein_coding	YES	CCDS31888.1	2068	MUTECT|MUSE	.	GTCCTGCTAAC	NONE	.	.	hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038	.	A:0	ENSP00000373539	.	19/69	.	.	.	.	.	.	.	.	rs147674384	19/69	nonpreferredpair	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.36)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Ala690Thr,ENST00000388887,;RP11-341G23.3,downstream_gene_variant,,ENST00000550175,;	2272	120	122	SUCCESS
SRRM4	84530	.	GRCh37	12	119563215	119563215	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs550204730	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	119	1	ENST00000267260.4:c.545G>A	p.Arg182His	p.R182H	ENST00000267260	NM_194286.3	182	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS44994.1	545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGCCACC	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0	.	ENSP00000267260	A:0	7/13	.	.	.	.	.	.	.	.	rs550204730,COSM202143	7/13	nonpreferredpair	ENST00000267260	Transcript	.	A:0.0002	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	A:0.001	tolerated_low_confidence(0.08)	0,1	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Arg182His,ENST00000267260,;SRRM4,non_coding_transcript_exon_variant,,ENST00000545224,;SRRM4,non_coding_transcript_exon_variant,,ENST00000537597,;	933	121	67	SUCCESS
SBNO1	55206	.	GRCh37	12	123782650	123782650	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	39	121	0	ENST00000420886.2:c.3914A>T	p.Tyr1305Phe	p.Y1305F	ENST00000420886	NM_001167856.1	1305	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS53844.1	3914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACATAATAT	NONE	.	.	hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8	.	.	ENSP00000387361	.	30/31	.	.	.	.	.	.	.	.	.	30/31	nonpreferredpair	ENST00000420886	Transcript	.	.	ENSG00000139697	22973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.41)	.	SBNO1_HUMAN	SBNO1	HGNC	Q9NVJ3_HUMAN	.	UPI00001FB922	SNV	SBNO1,missense_variant,p.Tyr1305Phe,ENST00000602398,;SBNO1,missense_variant,p.Tyr1304Phe,ENST00000602750,;SBNO1,missense_variant,p.Tyr1305Phe,ENST00000420886,;SBNO1,missense_variant,p.Tyr1304Phe,ENST00000267176,;	3914	121	126	SUCCESS
GOLT1B	51026	.	GRCh37	12	21665265	21665265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	67	0	ENST00000229314.5:c.333A>T	p.Arg111Ser	p.R111S	ENST00000229314	NM_016072.4	111	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS8689.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGAGTGCC	NONE	.	.	hmmpanther:PTHR21493,Pfam_domain:PF04178	.	.	ENSP00000229314	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000229314	Transcript	.	.	ENSG00000111711	20175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	GOT1B_HUMAN	GOLT1B	HGNC	G3V1U5_HUMAN	.	UPI0000048ED8	SNV	GOLT1B,missense_variant,p.Arg111Ser,ENST00000540141,;GOLT1B,missense_variant,p.Arg111Ser,ENST00000229314,;GOLT1B,missense_variant,p.Arg47Ser,ENST00000542038,;GOLT1B,non_coding_transcript_exon_variant,,ENST00000545093,;GOLT1B,non_coding_transcript_exon_variant,,ENST00000535593,;GOLT1B,3_prime_UTR_variant,,ENST00000539025,;GOLT1B,3_prime_UTR_variant,,ENST00000539663,;GOLT1B,3_prime_UTR_variant,,ENST00000542194,;	442	67	77	SUCCESS
KRT79	338785	.	GRCh37	12	53225247	53225247	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	100	0	ENST00000330553.5:c.641G>A	p.Gly214Glu	p.G214E	ENST00000330553	NM_175834.2	214	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS8839.1	641	MUTECT|MUSE	.	GCCTCCCCCGC	NONE	.	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000328358	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.192)	.	tolerated(0.21)	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,missense_variant,p.Gly214Glu,ENST00000330553,;KRT79,upstream_gene_variant,,ENST00000546453,;	676	100	92	SUCCESS
VEZT	55591	.	GRCh37	12	95676231	95676231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	29	142	1	ENST00000436874.1:c.1139G>T	p.Gly380Val	p.G380V	ENST00000436874	NM_017599.3	380	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44954.1	1139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTCTAC	NONE	.	.	Pfam_domain:PF12632,hmmpanther:PTHR15989:SF5,hmmpanther:PTHR15989	.	.	ENSP00000410083	.	8/12	.	.	.	.	.	.	.	.	.	8/12	nonpreferredpair	ENST00000436874	Transcript	.	.	ENSG00000028203	18258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	VEZA_HUMAN	VEZT	HGNC	.	.	UPI00001FB2EC	SNV	VEZT,missense_variant,p.Gly336Val,ENST00000397792,;VEZT,missense_variant,p.Gly332Val,ENST00000261219,;VEZT,missense_variant,p.Gly380Val,ENST00000436874,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000546398,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,intron_variant,,ENST00000551695,;VEZT,3_prime_UTR_variant,,ENST00000547611,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,non_coding_transcript_exon_variant,,ENST00000552827,;VEZT,non_coding_transcript_exon_variant,,ENST00000549192,;VEZT,intron_variant,,ENST00000548371,;VEZT,intron_variant,,ENST00000548838,;CBX3P5,downstream_gene_variant,,ENST00000552017,;	1244	143	132	SUCCESS
NEDD1	121441	.	GRCh37	12	97301333	97301333	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	59	0	ENST00000266742.4:c.-261-49A>G		p.*87*	ENST00000266742	NM_152905.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44955.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCACAAGT	NONE	.	.	.	.	.	ENSP00000451211	.	1/15	.	.	.	.	.	.	.	.	.	1/15	nonpreferredpair	ENST00000557644	Transcript	.	.	ENSG00000139350	7723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NEDD1	HGNC	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V3F1_HUMAN,G3V2V3_HUMAN,G3V2M9_HUMAN	.	UPI000004D249	SNV	NEDD1,5_prime_UTR_variant,,ENST00000557644,;NEDD1,intron_variant,,ENST00000554226,;NEDD1,intron_variant,,ENST00000411739,;NEDD1,intron_variant,,ENST00000553609,;NEDD1,intron_variant,,ENST00000266742,;NEDD1,intron_variant,,ENST00000429527,;NEDD1,intron_variant,,ENST00000557478,;NEDD1,intron_variant,,ENST00000557092,;NEDD1,intron_variant,,ENST00000557454,;NEDD1,intron_variant,,ENST00000557400,;NEDD1,intron_variant,,ENST00000555114,;NEDD1,intron_variant,,ENST00000555806,;EEF1A1P33,upstream_gene_variant,,ENST00000554413,;	90	59	71	SUCCESS
ZAR1L	646799	.	GRCh37	13	32878064	32878064	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	105	0	ENST00000345108.6:c.918C>G	p.Asp306Glu	p.D306E	ENST00000345108	NM_001136571.1	306	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS45023.1	918	MUTECT|MUSE	.	CTCTTGTCTTT	NONE	.	.	hmmpanther:PTHR31054:SF4,hmmpanther:PTHR31054,Pfam_domain:PF13695	.	.	ENSP00000437289	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000533490	Transcript	.	.	ENSG00000189167	37116	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.55)	.	tolerated(0.14)	.	ZAR1L_HUMAN	ZAR1L	HGNC	.	.	UPI00006C1387	SNV	ZAR1L,missense_variant,p.Asp306Glu,ENST00000345108,;ZAR1L,missense_variant,p.Asp306Glu,ENST00000533490,;	1337	105	79	SUCCESS
MRPS31P5	100887750	.	GRCh37	13	52768353	52768353	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	18	0	ENST00000416599.1:n.248T>A		p.*83*	ENST00000416599				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCCCGAGGACC	NONE	.	.	.	.	.	.	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000416599	Transcript	.	.	ENSG00000243406	39253	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MRPS31P5	HGNC	.	.	.	SNV	MRPS31P5,non_coding_transcript_exon_variant,,ENST00000416599,;MRPS31P5,intron_variant,,ENST00000606619,;RP11-248G5.8,intron_variant,,ENST00000451298,;MRPS31P5,intron_variant,,ENST00000606974,;MRPS31P5,splice_region_variant,,ENST00000423686,;	248	18	14	SUCCESS
MAGEL2	54551	.	GRCh37	15	23889752	23889752	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750090677	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	169	0	ENST00000532292.1:c.1329G>T	p.Met443Ile	p.M443I	ENST00000532292	NM_019066.4	443	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	1329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACCATCTC	NONE	byFrequency	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	rs750090677	1/1	nonpreferredpair	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	tolerated(0.09)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Met443Ile,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	1424	169	171	SUCCESS
MIR211	406993	.	GRCh37	15	31357301	31357301	+	mature_miRNA_variant	RNA	SNP	C	C	A	rs187960998	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	56	0	ENST00000384969.1:n.44G>T		p.*15*	ENST00000384969				0	T:0.0003	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS58347.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGCGAAGG	NONE	byCluster|by1000G	.	.	T:0.001	T:0	ENSP00000437849	T:0	.	.	.	.	.	.	.	.	.	rs187960998	.	nonpreferredpair	ENST00000542188	Transcript	1	T:0.0002	ENSG00000134160	7146	.	.	MODIFIER	6/26	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,intron_variant,,ENST00000558445,;TRPM1,intron_variant,,ENST00000542188,;TRPM1,intron_variant,,ENST00000558768,;TRPM1,intron_variant,,ENST00000256552,;TRPM1,intron_variant,,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;TRPM1,downstream_gene_variant,,ENST00000559179,;MIR211,mature_miRNA_variant,,ENST00000384969,;TRPM1,intron_variant,,ENST00000560801,;TRPM1,intron_variant,,ENST00000560658,;TRPM1,upstream_gene_variant,,ENST00000558070,;	.	56	57	SUCCESS
SCG3	29106	.	GRCh37	15	51975586	51975586	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775852158	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	23	0	ENST00000220478.3:c.352G>A	p.Asp118Asn	p.D118N	ENST00000220478	NM_013243.3	118	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10142.1	352	RADIA|MUSE	.	TGATCGATGAT	NONE	byFrequency	.	Pfam_domain:PF15467,hmmpanther:PTHR17388,hmmpanther:PTHR17388:SF2	.	.	ENSP00000220478	.	4/12	.	.	.	.	.	.	.	.	rs775852158,COSM121014	4/12	nonpreferredpair	ENST00000220478	Transcript	.	.	ENSG00000104112	13707	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.871)	.	deleterious_low_confidence(0)	0,1	SCG3_HUMAN	SCG3	HGNC	H0YKC2_HUMAN	.	UPI0000038A09	SNV	SCG3,missense_variant,p.Asp118Asn,ENST00000220478,;SCG3,5_prime_UTR_variant,,ENST00000542355,;SCG3,5_prime_UTR_variant,,ENST00000558709,;	755	23	35	SUCCESS
GRAMD2	0	.	GRCh37	15	72455767	72455767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	99	0	ENST00000309731.7:c.796C>T	p.Pro266Ser	p.P266S	ENST00000309731	NM_001012642.2	266	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32283.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGCCATG	NONE	.	.	hmmpanther:PTHR23319:SF7,hmmpanther:PTHR23319	.	.	ENSP00000311657	.	10/12	.	.	.	.	.	.	.	.	.	10/12	nonpreferredpair	ENST00000309731	Transcript	.	.	ENSG00000175318	27287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.62)	.	GRAM2_HUMAN	GRAMD2	HGNC	B4E188_HUMAN	.	UPI00001FE7DE	SNV	GRAMD2,missense_variant,p.Pro266Ser,ENST00000309731,;GRAMD2,downstream_gene_variant,,ENST00000564129,;GRAMD2,downstream_gene_variant,,ENST00000570275,;GRAMD2,downstream_gene_variant,,ENST00000568594,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564184,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000565233,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567662,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567029,;GRAMD2,intron_variant,,ENST00000564773,;GRAMD2,downstream_gene_variant,,ENST00000567637,;GRAMD2,downstream_gene_variant,,ENST00000562288,;	810	99	101	SUCCESS
CHD2	1106	.	GRCh37	15	93499777	93499777	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	36	0	ENST00000394196.4:c.1898T>C	p.Leu633Pro	p.L633P	ENST00000394196	NM_001271.3	633	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS10374.2	1898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCTGATTG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000377747	.	16/39	.	.	.	.	.	.	.	.	.	16/39	nonpreferredpair	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Leu633Pro,ENST00000557381,;CHD2,missense_variant,p.Leu633Pro,ENST00000394196,;CHD2,non_coding_transcript_exon_variant,,ENST00000555582,;	2966	36	43	SUCCESS
NETO2	81831	.	GRCh37	16	47117548	47117548	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749831838	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	55	0	ENST00000562435.1:c.1162G>C	p.Gly388Arg	p.G388R	ENST00000562435	NM_018092.4	388	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS10727.1	1162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCCGGTTT	NONE	byFrequency	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF314	.	.	ENSP00000455169	.	9/9	.	.	.	.	.	.	.	.	rs749831838	9/9	nonpreferredpair	ENST00000562435	Transcript	.	.	ENSG00000171208	14644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.588)	.	tolerated(0.44)	.	NETO2_HUMAN	NETO2	HGNC	.	.	UPI000003C718	SNV	NETO2,missense_variant,p.Gly388Arg,ENST00000562435,;NETO2,missense_variant,p.Gly381Arg,ENST00000303155,;NETO2,missense_variant,p.Gly91Arg,ENST00000564667,;NETO2,missense_variant,p.Gly187Arg,ENST00000563078,;NETO2,missense_variant,p.Gly228Arg,ENST00000562559,;	1547	55	51	SUCCESS
RANBP10	57610	.	GRCh37	16	67839340	67839340	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	94	0	ENST00000317506.3:c.338del	p.Gly113GlufsTer8	p.G113Efs*8	ENST00000317506	NM_020850.1	113	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32469.1	338	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCTTCCTTTG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR12864,PROSITE_profiles:PS50188,hmmpanther:PTHR12864:SF17	.	.	ENSP00000316589	.	2/14	.	.	.	.	.	.	.	.	.	2/14	nonpreferredpair	ENST00000317506	Transcript	.	.	ENSG00000141084	29285	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBP10_HUMAN	RANBP10	HGNC	B3KP49_HUMAN	.	UPI00001C1FA6	deletion	RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000317506,;RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000602677,;RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000448631,;RANBP10,5_prime_UTR_variant,,ENST00000536251,;RANBP10,5_prime_UTR_variant,,ENST00000425512,;RANBP10,intron_variant,,ENST00000411657,;TSNAXIP1,upstream_gene_variant,,ENST00000431934,;TSNAXIP1,upstream_gene_variant,,ENST00000388833,;TSNAXIP1,upstream_gene_variant,,ENST00000567852,;TSNAXIP1,upstream_gene_variant,,ENST00000415766,;TSNAXIP1,upstream_gene_variant,,ENST00000561639,;TSNAXIP1,upstream_gene_variant,,ENST00000561654,;TSNAXIP1,upstream_gene_variant,,ENST00000565148,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602887,;TSNAXIP1,upstream_gene_variant,,ENST00000562321,;RANBP10,frameshift_variant,p.Gly113GlufsTer8,ENST00000602506,;RANBP10,frameshift_variant,p.Gly113GlufsTer182,ENST00000602638,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602525,;RANBP10,intron_variant,,ENST00000602815,;TSNAXIP1,upstream_gene_variant,,ENST00000569504,;TSNAXIP1,upstream_gene_variant,,ENST00000562633,;TSNAXIP1,upstream_gene_variant,,ENST00000565339,;TSNAXIP1,upstream_gene_variant,,ENST00000487120,;TSNAXIP1,upstream_gene_variant,,ENST00000466164,;TSNAXIP1,upstream_gene_variant,,ENST00000563363,;TSNAXIP1,upstream_gene_variant,,ENST00000568990,;	454	94	99	SUCCESS
HAGHL	84264	.	GRCh37	16	777559	777559	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	180	0	ENST00000341413.4:c.50T>G	p.Val17Gly	p.V17G	ENST00000341413		17	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS32354.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTCATCG	NONE	.	.	HAMAP:MF_01374,hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935,Gene3D:3.60.15.10,Pfam_domain:PF00753,TIGRFAM_domain:TIGR03413,SMART_domains:SM00849,Superfamily_domains:SSF56281	.	.	ENSP00000374353	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000389703	Transcript	.	.	ENSG00000103253	14177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HAGHL_HUMAN	HAGHL	HGNC	H3BT20_HUMAN,B4DED4_HUMAN	.	UPI00000498AB	SNV	HAGHL,missense_variant,p.Val17Gly,ENST00000564537,;HAGHL,missense_variant,p.Val17Gly,ENST00000389703,;HAGHL,missense_variant,p.Val17Gly,ENST00000561546,;HAGHL,missense_variant,p.Val17Gly,ENST00000562141,;HAGHL,missense_variant,p.Val17Gly,ENST00000564545,;HAGHL,missense_variant,p.Val17Gly,ENST00000568141,;HAGHL,missense_variant,p.Val17Gly,ENST00000341413,;HAGHL,missense_variant,p.Val17Gly,ENST00000567414,;HAGHL,missense_variant,p.Val17Gly,ENST00000549114,;FAM173A,downstream_gene_variant,,ENST00000568916,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,;FAM173A,downstream_gene_variant,,ENST00000569529,;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000301694,;CCDC78,upstream_gene_variant,,ENST00000293889,;FAM173A,downstream_gene_variant,,ENST00000564000,;HAGHL,downstream_gene_variant,,ENST00000562187,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,upstream_gene_variant,,ENST00000563792,;FAM173A,downstream_gene_variant,,ENST00000219535,;CCDC78,upstream_gene_variant,,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,non_coding_transcript_exon_variant,,ENST00000569143,;HAGHL,non_coding_transcript_exon_variant,,ENST00000561750,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;CCDC78,upstream_gene_variant,,ENST00000471861,;FAM173A,downstream_gene_variant,,ENST00000566525,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000478979,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000561561,;NARFL,downstream_gene_variant,,ENST00000566650,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;CCDC78,upstream_gene_variant,,ENST00000481804,;FAM173A,downstream_gene_variant,,ENST00000570237,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000538176,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000485091,;	289	180	112	SUCCESS
SPECC1	92521	.	GRCh37	17	20109082	20109082	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	52	1	ENST00000261503.5:c.1720A>G	p.Thr574Ala	p.T574A	ENST00000261503	NM_001033553.2	574	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS32590.1	1720	SOMATICSNIPER|MUTECT|VARSCANS	.	AGCAGACGGCA	NONE	.	.	hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	4/15	.	.	.	.	.	.	.	.	.	4/15	nonpreferredpair	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Thr574Ala,ENST00000395527,;SPECC1,missense_variant,p.Thr493Ala,ENST00000395522,;SPECC1,missense_variant,p.Thr11Ala,ENST00000582226,;SPECC1,missense_variant,p.Thr493Ala,ENST00000395525,;SPECC1,missense_variant,p.Thr79Ala,ENST00000581399,;SPECC1,missense_variant,p.Thr574Ala,ENST00000261503,;SPECC1,missense_variant,p.Thr574Ala,ENST00000395529,;SPECC1,missense_variant,p.Thr493Ala,ENST00000395530,;SPECC1,intron_variant,,ENST00000536879,;SPECC1,downstream_gene_variant,,ENST00000583463,;SPECC1,upstream_gene_variant,,ENST00000584527,;SPECC1,downstream_gene_variant,,ENST00000581973,;SPECC1,downstream_gene_variant,,ENST00000583482,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,downstream_gene_variant,,ENST00000582063,;SPECC1,downstream_gene_variant,,ENST00000579688,;SPECC1,downstream_gene_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000467722,;	1771	54	57	SUCCESS
DNAH2	146754	.	GRCh37	17	7708380	7708380	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	72	0	ENST00000389173.2:c.9288A>G	p.Glu3096=	p.E3096=	ENST00000389173	NM_020877.2	3096	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS32551.1	9288	MUTECT|MUSE	.	CTGGAAGAGGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12777	.	.	ENSP00000458355	.	60/86	.	.	.	.	.	.	.	.	.	60/86	nonpreferredpair	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,intron_variant,,ENST00000575105,;	10748	72	66	SUCCESS
TRAPPC8	22878	.	GRCh37	18	29419280	29419280	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	26	0	ENST00000283351.4:c.3978A>G	p.Gln1326=	p.Q1326=	ENST00000283351	NM_014939.3	1326	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS11901.1	3978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTTTGATG	NONE	.	.	hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6,Pfam_domain:PF12739	.	.	ENSP00000283351	.	27/29	.	.	.	.	.	.	.	.	.	27/29	nonpreferredpair	ENST00000283351	Transcript	.	.	ENSG00000153339	29169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPPC8_HUMAN	TRAPPC8	HGNC	J3QQJ5_HUMAN,J3QKL6_HUMAN	.	UPI0000052E22	SNV	TRAPPC8,synonymous_variant,p.%3D,ENST00000582539,;TRAPPC8,synonymous_variant,p.%3D,ENST00000581057,;TRAPPC8,synonymous_variant,p.%3D,ENST00000283351,;TRAPPC8,3_prime_UTR_variant,,ENST00000580104,;	4314	26	47	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60225965	60225965	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	40	101	0	ENST00000269499.5:c.1454T>G	p.Leu485Ter	p.L485*	ENST00000269499	NM_017742.4	485	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS45880.1	1454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTAAAAG	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	.	.	ENSP00000269499	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,stop_gained,p.Leu164Ter,ENST00000586834,;ZCCHC2,stop_gained,p.Leu485Ter,ENST00000269499,;ZCCHC2,intron_variant,,ENST00000591632,;ZCCHC2,stop_gained,p.Leu405Ter,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000591435,;ZCCHC2,upstream_gene_variant,,ENST00000585949,;	1872	101	119	SUCCESS
ZNF441	126068	.	GRCh37	19	11892231	11892231	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781511935	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	31	0	ENST00000357901.4:c.1592A>G	p.Tyr531Cys	p.Y531C	ENST00000357901	NM_152355.2	531	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12266.2	1592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTATAAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF22,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350576	.	4/4	.	.	.	.	.	.	.	.	rs781511935	4/4	nonpreferredpair	ENST00000357901	Transcript	.	.	ENSG00000197044	20875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN441_HUMAN	ZNF441	HGNC	J3KQM6_HUMAN	.	UPI000059D677	SNV	ZNF441,missense_variant,p.Tyr531Cys,ENST00000357901,;ZNF441,missense_variant,p.Tyr464Cys,ENST00000454339,;ZNF441,3_prime_UTR_variant,,ENST00000409902,;ZNF441,downstream_gene_variant,,ENST00000462251,;	1694	31	37	SUCCESS
ZNF430	80264	.	GRCh37	19	21240807	21240807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	19	0	ENST00000261560.5:c.1693A>G	p.Arg565Gly	p.R565G	ENST00000261560	NM_025189.3	565	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS32978.1	1693	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ACTGGAGAGAA	NONE	.	.	.	.	.	ENSP00000261560	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.35)	.	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,missense_variant,p.Arg565Gly,ENST00000261560,;ZNF430,intron_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,;AC012627.1,downstream_gene_variant,,ENST00000578233,;	1874	19	18	SUCCESS
ZNF536	9745	.	GRCh37	19	31038889	31038889	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	77	0	ENST00000355537.3:c.2363G>A	p.Gly788Asp	p.G788D	ENST00000355537	NM_014717.1	788	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32984.1	2363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGGCACGC	BUFFER|p.A787A|c.2361C>T|3,BUFFER|p.T789M|c.2366C>T|5,BUFFER|p.T789T|c.2367G>A|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly788Asp,ENST00000585628,;ZNF536,missense_variant,p.Gly788Asp,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2510	77	73	SUCCESS
PPP5C	5536	.	GRCh37	19	46850460	46850460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	67	0	ENST00000012443.4:c.107A>G	p.Asn36Ser	p.N36S	ENST00000012443	NM_006247.3	36	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12684.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAATGACT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Pfam_domain:PF13414,Gene3D:1.25.40.10,PIRSF_domain:PIRSF033096,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000012443	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,missense_variant,p.Asn36Ser,ENST00000012443,;PPP5C,5_prime_UTR_variant,,ENST00000391919,;HIF3A,downstream_gene_variant,,ENST00000377670,;HIF3A,downstream_gene_variant,,ENST00000339613,;PPP5C,missense_variant,p.Asn35Ser,ENST00000478046,;	210	67	49	SUCCESS
ZNF175	7728	.	GRCh37	19	52090484	52090484	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	32	101	0	ENST00000262259.2:c.900T>A	p.Ile300=	p.I300=	ENST00000262259	NM_007147.2	300	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12837.1	900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATTCATAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF37,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000262259	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000262259	Transcript	.	.	ENSG00000105497	12964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN175_HUMAN	ZNF175	HGNC	.	.	UPI000013C30A	SNV	ZNF175,synonymous_variant,p.%3D,ENST00000262259,;ZNF175,intron_variant,,ENST00000436511,;AC018755.1,downstream_gene_variant,,ENST00000301439,;ZNF175,non_coding_transcript_exon_variant,,ENST00000600460,;	1258	101	122	SUCCESS
LILRB1	10859	.	GRCh37	19	55143640	55143640	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	63	314	0	ENST00000324602.7:c.613C>T	p.Pro205Ser	p.P205S	ENST00000324602	NM_001278399.1	205	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42614.1	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCCCTAT	BUFFER|p.S202S|c.606G>A|3	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000315997	.	5/15	.	.	.	.	.	.	.	.	COSM567834,COSM3538924	5/15	nonpreferredpair	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.189)	.	deleterious(0.04)	1,1	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,missense_variant,p.Pro205Ser,ENST00000396317,;LILRB1,missense_variant,p.Pro205Ser,ENST00000448689,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396331,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396315,;LILRB1,missense_variant,p.Pro241Ser,ENST00000427581,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396327,;LILRB1,missense_variant,p.Pro205Ser,ENST00000418536,;LILRB1,missense_variant,p.Pro205Ser,ENST00000434867,;LILRB1,missense_variant,p.Pro205Ser,ENST00000324602,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396332,;LILRB1,missense_variant,p.Pro205Ser,ENST00000396321,;AC009892.10,downstream_gene_variant,,ENST00000456337,;AC009892.1,upstream_gene_variant,,ENST00000578908,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Pro205Ser,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	838	314	263	SUCCESS
FIZ1	84922	.	GRCh37	19	56104976	56104976	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	23	170	0	ENST00000221665.3:c.331G>A	p.Val111Ile	p.V111I	ENST00000221665	NM_032836.2	111	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS12928.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACCAGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF11,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221665	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000221665	Transcript	.	.	ENSG00000179943	25917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.15)	.	FIZ1_HUMAN	FIZ1	HGNC	K7EQX6_HUMAN,K7EJE2_HUMAN	.	UPI000013C7D7	SNV	FIZ1,missense_variant,p.Val111Ile,ENST00000221665,;FIZ1,missense_variant,p.Val111Ile,ENST00000590714,;FIZ1,3_prime_UTR_variant,,ENST00000587678,;FIZ1,intron_variant,,ENST00000592585,;FIZ1,downstream_gene_variant,,ENST00000587414,;	421	170	106	SUCCESS
PEG3	5178	.	GRCh37	19	57327699	57327699	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	88	0	ENST00000326441.9:c.2111A>T	p.Gln704Leu	p.Q704L	ENST00000326441	NM_006210.2	704	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS12948.1	2111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTGATGC	BUFFER|p.H707Y|c.2119C>T|6,BUFFER|p.H707Y|c.2119C>T|6	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Superfamily_domains:SSF57667	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.2)	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,missense_variant,p.Gln704Leu,ENST00000423103,;PEG3,missense_variant,p.Gln704Leu,ENST00000599577,;PEG3,missense_variant,p.Gln704Leu,ENST00000599534,;PEG3,missense_variant,p.Gln580Leu,ENST00000598410,;PEG3,missense_variant,p.Gln704Leu,ENST00000326441,;PEG3,missense_variant,p.Gln578Leu,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	2475	88	93	SUCCESS
VAV3	10451	.	GRCh37	1	108507415	108507415	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	33	300	0	ENST00000370056.4:c.77A>G	p.Asp26Gly	p.D26G	ENST00000370056	NM_006113.4	26	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS785.1	77	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGTCCCAG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Pfam_domain:PF11971,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000359073	.	1/27	.	.	.	.	.	.	.	.	.	1/27	nonpreferredpair	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	tolerated(0.13)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Asp21Gly,ENST00000490388,;VAV3,missense_variant,p.Asp26Gly,ENST00000370056,;VAV3,missense_variant,p.Asp26Gly,ENST00000527011,;VAV3,5_prime_UTR_variant,,ENST00000371846,;VAV3-AS1,intron_variant,,ENST00000438318,;VAV3,upstream_gene_variant,,ENST00000469325,;VAV3,upstream_gene_variant,,ENST00000530671,;	352	301	160	SUCCESS
GON4L	54856	.	GRCh37	1	155722050	155722050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	318	139	336	0	ENST00000368331.1:c.6174G>T	p.Lys2058Asn	p.K2058N	ENST00000368331	NM_001037533.1	2058	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS44242.1	6171	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTTTGA	NONE	.	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF10	.	.	ENSP00000396117	.	30/32	.	.	.	.	.	.	.	.	.	30/32	nonpreferredpair	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.11)	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,missense_variant,p.Lys2057Asn,ENST00000437809,;GON4L,missense_variant,p.Lys2058Asn,ENST00000368331,;GON4L,missense_variant,p.Lys2057Asn,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,upstream_gene_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;GON4L,downstream_gene_variant,,ENST00000483032,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	6294	336	457	SUCCESS
FHAD1	114827	.	GRCh37	1	15675645	15675645	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	58	0	ENST00000358897.4:c.2388G>C	p.Glu796Asp	p.E796D	ENST00000358897	NM_052929.1	796	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	.	.	2388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGGTATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF3	.	.	ENSP00000351770	.	18/31	.	.	.	.	.	.	.	.	.	18/31	nonpreferredpair	ENST00000358897	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	deleterious(0.01)	.	FHAD1_HUMAN	FHAD1	HGNC	.	.	UPI0001761703	SNV	FHAD1,missense_variant,p.Glu796Asp,ENST00000358897,;FHAD1,missense_variant,p.Glu796Asp,ENST00000375998,;FHAD1,missense_variant,p.Glu796Asp,ENST00000375999,;FHAD1,intron_variant,,ENST00000314668,;FHAD1,intron_variant,,ENST00000314740,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000444385,;FHAD1,intron_variant,,ENST00000529606,;FHAD1,splice_region_variant,,ENST00000471347,;FHAD1,intron_variant,,ENST00000532408,;	2526	58	50	SUCCESS
CAPZB	832	.	GRCh37	1	19746233	19746233	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	86	0	ENST00000375142.1:c.15G>C	p.Gln5His	p.Q5H	ENST00000375142	NM_001206540.1	5	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS55579.1	15	MUTECT|MUSE	.	TCCAGCTGCTG	NONE	.	.	hmmpanther:PTHR10619,Pfam_domain:PF01115,Superfamily_domains:SSF90096,Prints_domain:PR00192	.	.	ENSP00000364284	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000375142	Transcript	.	.	ENSG00000077549	1491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CAPZB_HUMAN	CAPZB	HGNC	F6USW4_HUMAN	.	UPI0000126EDB	SNV	CAPZB,missense_variant,p.Gln5His,ENST00000375142,;CAPZB,missense_variant,p.Gln34His,ENST00000433834,;CAPZB,missense_variant,p.Gln5His,ENST00000401084,;CAPZB,missense_variant,p.Gln5His,ENST00000264202,;CAPZB,missense_variant,p.Gln31His,ENST00000264203,;CAPZB,5_prime_UTR_variant,,ENST00000375144,;CAPZB,5_prime_UTR_variant,,ENST00000413711,;RN7SL277P,upstream_gene_variant,,ENST00000481521,;CAPZB,non_coding_transcript_exon_variant,,ENST00000482808,;CAPZB,non_coding_transcript_exon_variant,,ENST00000489607,;CAPZB,intron_variant,,ENST00000459967,;	62	86	87	SUCCESS
USP1	7398	.	GRCh37	1	62913095	62913095	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	83	0	ENST00000339950.4:c.1333A>G	p.Ser445Gly	p.S445G	ENST00000339950	NM_003368.4	445	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS621.1	1333	MUTECT|MUSE|VARSCANS	.	GTGAAAGTTTA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,Gene3D:1nbfA02,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378,PROSITE_profiles:PS50235	.	.	ENSP00000343526	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000339950	Transcript	.	.	ENSG00000162607	12607	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.555)	.	tolerated(0.25)	.	UBP1_HUMAN	USP1	HGNC	C9JWX4_HUMAN,C9JC88_HUMAN	.	UPI00001379D4	SNV	USP1,missense_variant,p.Ser445Gly,ENST00000371146,;USP1,missense_variant,p.Ser445Gly,ENST00000339950,;USP1,downstream_gene_variant,,ENST00000452143,;	2148	83	87	SUCCESS
LEPR	3953	.	GRCh37	1	66102511	66102511	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	124	0	ENST00000349533.6:c.3311T>A	p.Phe1104Tyr	p.F1104Y	ENST00000349533	NM_002303.5	1104	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS631.1	3311	MUTECT|MUSE	.	CCCATTCCCAG	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF11	.	.	ENSP00000330393	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000349533	Transcript	.	.	ENSG00000116678	6554	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	tolerated(0.06)	.	LEPR_HUMAN	LEPR	HGNC	L0I9J6_HUMAN,A2RRQ4_HUMAN	.	UPI000014C37B	SNV	LEPR,missense_variant,p.Phe1104Tyr,ENST00000349533,;LEPR,missense_variant,p.Phe171Tyr,ENST00000406510,;LEPR,downstream_gene_variant,,ENST00000371060,;	3496	124	115	SUCCESS
TAS1R1	80835	.	GRCh37	1	6635364	6635364	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767318686	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	122	0	ENST00000333172.6:c.1172G>A	p.Arg391Gln	p.R391Q	ENST00000333172	NM_138697.3	391	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS81.1	1172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCGGGCTG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	.	.	ENSP00000331867	.	3/6	.	.	.	.	.	.	.	.	rs767318686	3/6	nonpreferredpair	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.64)	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,missense_variant,p.Arg391Gln,ENST00000333172,;TAS1R1,missense_variant,p.Arg391Gln,ENST00000328191,;TAS1R1,missense_variant,p.Arg317Gln,ENST00000411823,;TAS1R1,intron_variant,,ENST00000415267,;TAS1R1,intron_variant,,ENST00000351136,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;ZBTB48,upstream_gene_variant,,ENST00000377674,;ZBTB48,upstream_gene_variant,,ENST00000319084,;	1365	122	95	SUCCESS
OVOL2	58495	.	GRCh37	20	18005322	18005322	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	21	263	0	ENST00000278780.6:c.786C>G	p.His262Gln	p.H262Q	ENST00000278780	NM_021220.2	262	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS13132.1	786	MUTECT|MUSE|VARSCANS	.	TCCTGGTGTGC	NONE	.	.	hmmpanther:PTHR10032:SF193,hmmpanther:PTHR10032	.	.	ENSP00000278780	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000278780	Transcript	.	.	ENSG00000125850	15804	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.043)	.	tolerated(0.07)	.	OVOL2_HUMAN	OVOL2	HGNC	.	.	UPI000013C360	SNV	OVOL2,missense_variant,p.His262Gln,ENST00000278780,;OVOL2,non_coding_transcript_exon_variant,,ENST00000483661,;OVOL2,non_coding_transcript_exon_variant,,ENST00000494030,;OVOL2,intron_variant,,ENST00000486776,;	1029	263	248	SUCCESS
LBP	3929	.	GRCh37	20	36983752	36983752	+	synonymous_variant	Silent	SNP	G	G	A	rs753612358	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	101	0	ENST00000217407.2:c.531G>A	p.Leu177=	p.L177=	ENST00000217407	NM_004139.3	177	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13304.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGTTGAA	NONE	byFrequency	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,Gene3D:1ewfA01,Pfam_domain:PF01273,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000217407	.	5/15	.	.	.	.	.	.	.	.	rs753612358	5/15	nonpreferredpair	ENST00000217407	Transcript	.	.	ENSG00000129988	6517	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBP_HUMAN	LBP	HGNC	.	.	UPI000013C728	SNV	LBP,synonymous_variant,p.%3D,ENST00000217407,;	692	101	89	SUCCESS
CTCFL	140690	.	GRCh37	20	56073609	56073609	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	31	152	0	ENST00000243914.3:c.1989G>A	p.Lys663=	p.K663=	ENST00000243914		663	aaG/aaA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58780.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCACTTATC	NONE	.	.	.	.	.	ENSP00000415579	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000423479	Transcript	.	.	ENSG00000124092	16234	.	.	HIGH	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTCFL_HUMAN	CTCFL	HGNC	.	.	UPI000157860F	SNV	CTCFL,splice_donor_variant,,ENST00000423479,;CTCFL,synonymous_variant,p.%3D,ENST00000371196,;CTCFL,synonymous_variant,p.%3D,ENST00000429804,;CTCFL,synonymous_variant,p.%3D,ENST00000608263,;CTCFL,synonymous_variant,p.%3D,ENST00000243914,;CTCFL,synonymous_variant,p.%3D,ENST00000609232,;CTCFL,downstream_gene_variant,,ENST00000608440,;CTCFL,downstream_gene_variant,,ENST00000433949,;CTCFL,downstream_gene_variant,,ENST00000502686,;CTCFL,downstream_gene_variant,,ENST00000422109,;CTCFL,downstream_gene_variant,,ENST00000426658,;	.	152	140	SUCCESS
ZBTB46	140685	.	GRCh37	20	62421193	62421193	+	synonymous_variant	Silent	SNP	C	C	T	rs758957257	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	51	0	ENST00000245663.4:c.918G>A	p.Pro306=	p.P306=	ENST00000245663	NM_025224.3	306	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13538.1	918	RADIA|VARSCANS	.	CTGAACGGCCA	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118	.	.	ENSP00000245663	.	2/5	.	.	.	.	.	.	.	.	rs758957257	2/5	nonpreferredpair	ENST00000245663	Transcript	.	.	ENSG00000130584	16094	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT46_HUMAN	ZBTB46	HGNC	.	.	UPI0000206406	SNV	ZBTB46,synonymous_variant,p.%3D,ENST00000302995,;ZBTB46,synonymous_variant,p.%3D,ENST00000395104,;ZBTB46,synonymous_variant,p.%3D,ENST00000245663,;ZBTB46,non_coding_transcript_exon_variant,,ENST00000480766,;	1069	51	34	SUCCESS
PLCB1	23236	.	GRCh37	20	8678275	8678275	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	68	325	2	ENST00000338037.6:c.1012G>C	p.Gly338Arg	p.G338R	ENST00000338037	NM_015192.3	338	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS13102.1	1012	RADIA|VARSCANS	.	TAGCTGGCCAA	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000338185	.	11/32	.	.	.	.	.	.	.	.	COSM4100708,COSM4100709	11/32	nonpreferredpair	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.173)	.	deleterious(0)	1,1	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Gly338Arg,ENST00000378641,;PLCB1,missense_variant,p.Gly338Arg,ENST00000338037,;PLCB1,missense_variant,p.Gly338Arg,ENST00000378637,;PLCB1,missense_variant,p.Gly79Arg,ENST00000487210,;	1039	327	288	SUCCESS
LAMP5	24141	.	GRCh37	20	9510307	9510307	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	22	93	0	ENST00000246070.2:c.683A>G	p.Asp228Gly	p.D228G	ENST00000246070	NM_012261.3	228	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13106.1	683	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGATGAGC	NONE	.	.	hmmpanther:PTHR11506,Pfam_domain:PF01299	.	.	ENSP00000246070	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,missense_variant,p.Asp228Gly,ENST00000246070,;LAMP5,missense_variant,p.Asp184Gly,ENST00000427562,;	1175	93	135	SUCCESS
CACNG2	10369	.	GRCh37	22	36960731	36960731	+	synonymous_variant	Silent	SNP	G	G	A	rs762691427	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	39	0	ENST00000300105.6:c.639C>T	p.Arg213=	p.R213=	ENST00000300105	NM_006078.3	213	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13931.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCGCGGGC	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107	.	.	ENSP00000300105	.	4/4	.	.	.	.	.	.	.	.	rs762691427,COSM272448	4/4	nonpreferredpair	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,synonymous_variant,p.%3D,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	1621	39	22	SUCCESS
CLASP1	23332	.	GRCh37	2	122216520	122216520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	71	0	ENST00000263710.4:c.1210G>A	p.Asp404Asn	p.D404N	ENST00000263710	NM_015282.2	404	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	.	1210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCAAACT	NONE	.	.	hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567,Pfam_domain:PF12348,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000263710	.	13/40	.	.	.	.	.	.	.	.	.	13/40	nonpreferredpair	ENST00000263710	Transcript	.	.	ENSG00000074054	17088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	CLAP1_HUMAN	CLASP1	HGNC	C9JP76_HUMAN,C9J151_HUMAN	.	UPI00001A8BFF	SNV	CLASP1,missense_variant,p.Asp404Asn,ENST00000397587,;CLASP1,missense_variant,p.Asp404Asn,ENST00000263710,;CLASP1,missense_variant,p.Asp173Asn,ENST00000541859,;CLASP1,missense_variant,p.Asp404Asn,ENST00000455322,;CLASP1,missense_variant,p.Asp172Asn,ENST00000545861,;CLASP1,missense_variant,p.Asp404Asn,ENST00000541377,;CLASP1,missense_variant,p.Asp404Asn,ENST00000409078,;CLASP1,downstream_gene_variant,,ENST00000449975,;CLASP1,downstream_gene_variant,,ENST00000418989,;CLASP1,non_coding_transcript_exon_variant,,ENST00000430234,;CLASP1,downstream_gene_variant,,ENST00000480007,;CLASP1,missense_variant,p.Asp185Asn,ENST00000452274,;CLASP1,downstream_gene_variant,,ENST00000491646,;CLASP1,downstream_gene_variant,,ENST00000474065,;	1600	71	92	SUCCESS
ARL5A	26225	.	GRCh37	2	152670806	152670806	+	synonymous_variant	Silent	SNP	T	T	C	rs776861293	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	46	147	1	ENST00000295087.8:c.132A>G	p.Thr44=	p.T44=	ENST00000295087	NM_012097.3	44	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2195.1	132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATGTATG	NONE	byFrequency	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF147,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00178,SMART_domains:SM00177,Superfamily_domains:SSF52540	.	.	ENSP00000295087	.	3/6	.	.	.	.	.	.	.	.	rs776861293	3/6	nonpreferredpair	ENST00000295087	Transcript	.	.	ENSG00000162980	696	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL5A_HUMAN	ARL5A	HGNC	.	.	UPI0000125EE6	SNV	ARL5A,synonymous_variant,p.%3D,ENST00000428992,;ARL5A,synonymous_variant,p.%3D,ENST00000295087,;ARL5A,synonymous_variant,p.%3D,ENST00000446896,;ARL5A,synonymous_variant,p.%3D,ENST00000458140,;	444	149	180	SUCCESS
MIR561	693146	.	GRCh37	2	189162265	189162265	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	81	0	ENST00000385216.1:n.47C>T		p.*16*	ENST00000385216				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2295.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCAGAGC	NONE	.	.	.	.	.	ENSP00000386289	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000409580	Transcript	.	.	ENSG00000144366	18649	.	.	MODIFIER	2/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GULP1_HUMAN	GULP1	HGNC	B8ZZL1_HUMAN	.	UPI0000031CE3	SNV	GULP1,intron_variant,,ENST00000409637,;GULP1,intron_variant,,ENST00000409805,;GULP1,intron_variant,,ENST00000409609,;GULP1,intron_variant,,ENST00000359135,;GULP1,intron_variant,,ENST00000409927,;GULP1,intron_variant,,ENST00000410051,;GULP1,intron_variant,,ENST00000409830,;GULP1,intron_variant,,ENST00000409843,;GULP1,intron_variant,,ENST00000409580,;MIR561,mature_miRNA_variant,,ENST00000385216,;GULP1,intron_variant,,ENST00000479019,;GULP1,downstream_gene_variant,,ENST00000486445,;	.	81	104	SUCCESS
SGOL2	0	.	GRCh37	2	201399836	201399838	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	34	0	ENST00000357799.4:c.254_256del	p.Glu85del	p.E85del	ENST00000357799	NM_152524.5	84	aAAGaa/aaa	0	.	.	.	.	.	-	KE/K	protein_coding	YES	CCDS42796.1	251-253	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCAAAAAGAAGTA	NONE	.	.	hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577	.	.	ENSP00000350447	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000357799	Transcript	.	.	ENSG00000163535	30812	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SGOL2_HUMAN	SGOL2	HGNC	C9JW92_HUMAN	.	UPI00001AEBF5	deletion	SGOL2,inframe_deletion,p.Glu85del,ENST00000418045,;SGOL2,inframe_deletion,p.Glu85del,ENST00000409203,;SGOL2,inframe_deletion,p.Glu85del,ENST00000357799,;SGOL2,downstream_gene_variant,,ENST00000460534,;SGOL2,upstream_gene_variant,,ENST00000469840,;SGOL2,non_coding_transcript_exon_variant,,ENST00000488636,;	349-351	34	72	SUCCESS
NYAP2	57624	.	GRCh37	2	226273578	226273578	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	15	89	0	ENST00000272907.6:c.-17-2A>T		p.X6_splice	ENST00000272907	NM_020864.1	6		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46529.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAGGCAG	NONE	.	.	.	.	.	ENSP00000272907	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	HIGH	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,splice_acceptor_variant,,ENST00000272907,;NYAP2,upstream_gene_variant,,ENST00000409269,;	.	89	89	SUCCESS
SPHKAP	80309	.	GRCh37	2	228882436	228882436	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	74	0	ENST00000392056.3:c.3134A>C	p.Lys1045Thr	p.K1045T	ENST00000392056	NM_001142644.1	1045	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS46537.1	3134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCTTGGCT	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.842)	.	deleterious(0)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Lys1045Thr,ENST00000344657,;SPHKAP,missense_variant,p.Lys1045Thr,ENST00000392056,;	3181	74	91	SUCCESS
COL6A3	1293	.	GRCh37	2	238245049	238245049	+	synonymous_variant	Silent	SNP	A	A	G	rs537384335	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	21	137	0	ENST00000295550.4:c.8694T>C	p.Thr2898=	p.T2898=	ENST00000295550	NM_004369.3	2898	acT/acC	0	.	G:0	.	G:0	.	G	T	protein_coding	YES	CCDS33412.1	8694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATAGTCAC	NONE	by1000G	.	Low_complexity_(Seg):seg	G:0.001	.	ENSP00000295550	G:0	40/44	.	.	.	.	.	.	.	.	rs537384335	40/44	nonpreferredpair	ENST00000295550	Transcript	.	G:0.0002	ENSG00000163359	2213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,synonymous_variant,p.%3D,ENST00000472056,;COL6A3,synonymous_variant,p.%3D,ENST00000409809,;COL6A3,synonymous_variant,p.%3D,ENST00000295550,;COL6A3,synonymous_variant,p.%3D,ENST00000347401,;COL6A3,synonymous_variant,p.%3D,ENST00000346358,;COL6A3,synonymous_variant,p.%3D,ENST00000353578,;COL6A3,upstream_gene_variant,,ENST00000493608,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,;	9147	137	104	SUCCESS
DRC1	92749	.	GRCh37	2	26676331	26676331	+	synonymous_variant	Silent	SNP	G	G	A	rs770534903	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	96	0	ENST00000288710.2:c.1833G>A	p.Glu611=	p.E611=	ENST00000288710	NM_145038.2	611	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS1723.1	1833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGAGAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1	.	.	ENSP00000288710	.	14/17	.	.	.	.	.	.	.	.	rs770534903	14/17	nonpreferredpair	ENST00000288710	Transcript	.	.	ENSG00000157856	24245	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRC1_HUMAN	DRC1	HGNC	.	.	UPI000013DF36	SNV	DRC1,synonymous_variant,p.%3D,ENST00000288710,;DRC1,synonymous_variant,p.%3D,ENST00000439066,;OTOF,downstream_gene_variant,,ENST00000403946,;OTOF,downstream_gene_variant,,ENST00000338581,;OTOF,downstream_gene_variant,,ENST00000272371,;OTOF,downstream_gene_variant,,ENST00000339598,;OTOF,downstream_gene_variant,,ENST00000402415,;	1907	96	94	SUCCESS
TET3	200424	.	GRCh37	2	74275063	74275063	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	121	0	ENST00000409262.3:c.1614G>C	p.Arg538Ser	p.R538S	ENST00000409262	NM_144993.1	538	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS46339.1	1614	MUTECT|MUSE	.	TCCAGGGACAG	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4	.	.	ENSP00000386869	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000409262	Transcript	.	.	ENSG00000187605	28313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.39)	.	TET3_HUMAN	TET3	HGNC	K9JJH7_HUMAN	.	UPI0000DD79F5	SNV	TET3,missense_variant,p.Arg538Ser,ENST00000409262,;TET3,missense_variant,p.Arg580Ser,ENST00000305799,;TET3,non_coding_transcript_exon_variant,,ENST00000475405,;	1614	122	120	SUCCESS
MYH15	22989	.	GRCh37	3	108147461	108147461	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	258	11	231	1	ENST00000273353.3:c.3640G>C	p.Glu1214Gln	p.E1214Q	ENST00000273353	NM_014981.1	1214	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS43127.1	3640	MUTECT|MUSE	.	GAGCTCAGCCA	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	28/42	.	.	.	.	.	.	.	.	COSM727415	28/42	nonpreferredpair	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.872)	.	deleterious(0.01)	1	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Glu1214Gln,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	3697	232	269	SUCCESS
ZIC1	7545	.	GRCh37	3	147128637	147128637	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	43	203	1	ENST00000282928.4:c.738C>T	p.Phe246=	p.F246=	ENST00000282928	NM_003412.3	246	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS3136.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCAGCAC	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000282928	.	1/3	.	.	.	.	.	.	.	.	COSM1566196	1/3	nonpreferredpair	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	SNV	ZIC1,synonymous_variant,p.%3D,ENST00000282928,;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000491672,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	1467	204	166	SUCCESS
SSR3	6747	.	GRCh37	3	156266720	156266720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	43	0	ENST00000265044.2:c.333G>T	p.Lys111Asn	p.K111N	ENST00000265044	NM_007107.3	111	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS3176.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCTTTCT	NONE	.	.	Pfam_domain:PF07074,hmmpanther:PTHR13399,hmmpanther:PTHR13399:SF2	.	.	ENSP00000265044	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000265044	Transcript	.	.	ENSG00000114850	11325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	SSRG_HUMAN	SSR3	HGNC	C9J365_HUMAN	.	UPI0000136005	SNV	SSR3,missense_variant,p.Lys111Asn,ENST00000265044,;SSR3,missense_variant,p.Lys59Asn,ENST00000463503,;SSR3,missense_variant,p.Lys59Asn,ENST00000496050,;SSR3,missense_variant,p.Lys111Asn,ENST00000467789,;SSR3,missense_variant,p.Lys111Asn,ENST00000476217,;SSR3,non_coding_transcript_exon_variant,,ENST00000464138,;SSR3,non_coding_transcript_exon_variant,,ENST00000478842,;SSR3,non_coding_transcript_exon_variant,,ENST00000498205,;SSR3,non_coding_transcript_exon_variant,,ENST00000467733,;	428	43	63	SUCCESS
IQCJ-SCHIP1	100505385	.	GRCh37	3	158991644	158991644	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	136	0	ENST00000337808.6:c.35A>T	p.Asp12Val	p.D12V	ENST00000337808	NM_001197107.1	12	gAc/gTc	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56289.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGACTGTG	NONE	.	.	.	.	.	ENSP00000420182	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000485419	Transcript	.	.	ENSG00000250588	38842	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IQCJ-SCHIP1	HGNC	C9JMW4_HUMAN,C9J630_HUMAN,C9J615_HUMAN	.	UPI0000E5AA62	SNV	IQCJ-SCHIP1,missense_variant,p.Asp12Val,ENST00000527095,;IQCJ-SCHIP1,missense_variant,p.Asp12Val,ENST00000337808,;IQCJ-SCHIP1,missense_variant,p.Asp12Val,ENST00000412423,;IQCJ-SCHIP1,intron_variant,,ENST00000481715,;IQCJ-SCHIP1,intron_variant,,ENST00000488898,;IQCJ-SCHIP1,intron_variant,,ENST00000476809,;IQCJ-SCHIP1,intron_variant,,ENST00000471575,;IQCJ-SCHIP1,intron_variant,,ENST00000485419,;IQCJ-SCHIP1,intron_variant,,ENST00000483486,;IQCJ-SCHIP1,intron_variant,,ENST00000467442,;	.	136	105	SUCCESS
SI	6476	.	GRCh37	3	164776979	164776979	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	5	134	0	ENST00000264382.3:c.1255G>A	p.Gly419Arg	p.G419R	ENST00000264382	NM_001041.3	419	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS3196.1	1255	MUTECT|MUSE	.	CTGTCCATGGT	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	.	.	ENSP00000264382	.	11/48	.	.	.	.	.	.	.	.	COSM3589597	11/48	nonpreferredpair	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Gly419Arg,ENST00000264382,;	1318	134	151	SUCCESS
SCN5A	6331	.	GRCh37	3	38645342	38645342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	140	1	ENST00000333535.4:c.1751G>A	p.Gly584Asp	p.G584D	ENST00000333535		584	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS46799.1	1751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGCCAGGA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Pfam_domain:PF11933	.	.	ENSP00000410257	.	12/28	.	.	.	.	.	.	.	.	.	12/28	nonpreferredpair	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.236)	.	tolerated(0.62)	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,missense_variant,p.Gly584Asp,ENST00000449557,;SCN5A,missense_variant,p.Gly584Asp,ENST00000413689,;SCN5A,missense_variant,p.Gly584Asp,ENST00000423572,;SCN5A,missense_variant,p.Gly584Asp,ENST00000425664,;SCN5A,missense_variant,p.Gly584Asp,ENST00000414099,;SCN5A,missense_variant,p.Gly584Asp,ENST00000451551,;SCN5A,missense_variant,p.Gly584Asp,ENST00000450102,;SCN5A,missense_variant,p.Gly584Asp,ENST00000333535,;SCN5A,missense_variant,p.Gly584Asp,ENST00000455624,;SCN5A,missense_variant,p.Gly584Asp,ENST00000443581,;	1945	141	60	SUCCESS
ITPR1	3708	.	GRCh37	3	4693825	4693829	+	frameshift_variant	Frame_Shift_Del	DEL	TGTCG	TGTCG	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	TGTCG	TGTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	96	35	137	0	ENST00000354582.6:c.874_878del	p.Cys292GlyfsTer28	p.C292Gfs*28	ENST00000354582		292	TGTCGg/g	0	.	.	.	.	.	-	CR/X	protein_coding	YES	CCDS54551.1	874-878	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCCATGTCGGGGCG	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,Superfamily_domains:SSF82109,Prints_domain:PR00779	.	.	ENSP00000306253	.	11/61	.	.	.	.	.	.	.	.	.	11/61	nonpreferredpair	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	deletion	ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000423119,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000456211,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000357086,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000302640,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000443694,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000354582,;ITPR1,frameshift_variant,p.Cys292GlyfsTer28,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;	1224-1228	137	131	SUCCESS
ITIH4	3700	.	GRCh37	3	52863215	52863215	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	33	121	0	ENST00000266041.4:c.171G>A	p.Val57=	p.V57=	ENST00000266041	NM_002218.4	57	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2865.1	171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACCACTCG	NONE	.	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338,Pfam_domain:PF08487,SMART_domains:SM00609	.	.	ENSP00000266041	.	2/24	.	.	.	.	.	.	.	.	.	2/24	nonpreferredpair	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,synonymous_variant,p.%3D,ENST00000266041,;ITIH4,synonymous_variant,p.%3D,ENST00000346281,;ITIH4,synonymous_variant,p.%3D,ENST00000485816,;ITIH4,synonymous_variant,p.%3D,ENST00000406595,;ITIH4,intron_variant,,ENST00000434759,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000514466,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000504329,;MUSTN1,downstream_gene_variant,,ENST00000486659,;ITIH4,upstream_gene_variant,,ENST00000441637,;MUSTN1,downstream_gene_variant,,ENST00000446157,;ITIH4-AS1,downstream_gene_variant,,ENST00000478366,;RP5-966M1.6,downstream_gene_variant,,ENST00000513520,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,intron_variant,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000483372,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000495552,;ITIH4,downstream_gene_variant,,ENST00000473904,;	268	122	113	SUCCESS
ARHGEF3	50650	.	GRCh37	3	56835759	56835759	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs751146866	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	156	0	ENST00000296315.3:c.68C>G	p.Pro23Arg	p.P23R	ENST00000296315	NM_019555.2	23	cCg/cGg	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46854.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGGGGGT	NONE	byFrequency	.	.	.	.	ENSP00000341071	.	.	.	.	.	.	.	.	.	.	rs751146866	.	nonpreferredpair	ENST00000338458	Transcript	.	.	ENSG00000163947	683	.	.	MODIFIER	4/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG3_HUMAN	ARHGEF3	HGNC	C9J609_HUMAN,C9J5K8_HUMAN	.	UPI00001B3D98	SNV	ARHGEF3,missense_variant,p.Pro23Arg,ENST00000296315,;ARHGEF3,missense_variant,p.Pro23Arg,ENST00000495373,;ARHGEF3,intron_variant,,ENST00000468466,;ARHGEF3,intron_variant,,ENST00000496106,;ARHGEF3,intron_variant,,ENST00000473779,;ARHGEF3,intron_variant,,ENST00000338458,;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000481422,;ARHGEF3,intron_variant,,ENST00000498517,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,missense_variant,p.Pro74Arg,ENST00000465659,;ARHGEF3,intron_variant,,ENST00000486829,;ARHGEF3,intron_variant,,ENST00000477833,;	.	156	74	SUCCESS
ROBO2	6092	.	GRCh37	3	77614132	77614132	+	synonymous_variant	Silent	SNP	C	C	T	rs765291604	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	79	0	ENST00000461745.1:c.1710C>T	p.Thr570=	p.T570=	ENST00000461745	NM_002942.4	570	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54609.1	1758	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCGTGGC	BUFFER|p.Q585K|c.1753C>A|3,BUFFER|p.Q569K|c.1705C>A|4	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	13/27	.	.	.	.	.	.	.	.	rs765291604,COSM1048515,COSM1048516	13/27	nonpreferredpair	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,synonymous_variant,p.%3D,ENST00000332191,;ROBO2,synonymous_variant,p.%3D,ENST00000602589,;ROBO2,synonymous_variant,p.%3D,ENST00000461745,;ROBO2,synonymous_variant,p.%3D,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2037	79	60	SUCCESS
STIM2	57620	.	GRCh37	4	27024472	27024472	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	121	0	ENST00000467087.1:c.2095T>G	p.Ser699Ala	p.S699A	ENST00000467087	NM_020860.3	699	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS54751.1	2119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTTCCTCA	NONE	.	.	hmmpanther:PTHR15136:SF2,hmmpanther:PTHR15136	.	.	ENSP00000417569	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000465503	Transcript	.	.	ENSG00000109689	19205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	deleterious_low_confidence(0.01)	.	.	STIM2	HGNC	R4GNC5_HUMAN,R4GN82_HUMAN,R4GMP0_HUMAN,Q05BJ5_HUMAN,H0Y860_HUMAN	.	UPI0001B79443	SNV	STIM2,missense_variant,p.Ser786Ala,ENST00000237364,;STIM2,missense_variant,p.Ser699Ala,ENST00000467087,;STIM2,missense_variant,p.Ser707Ala,ENST00000465503,;STIM2,missense_variant,p.Ser794Ala,ENST00000382009,;STIM2,3_prime_UTR_variant,,ENST00000467011,;STIM2,3_prime_UTR_variant,,ENST00000412829,;STIM2,downstream_gene_variant,,ENST00000477474,;STIM2,downstream_gene_variant,,ENST00000473519,;STIM2,downstream_gene_variant,,ENST00000504511,;	2497	122	108	SUCCESS
ZNF141	7700	.	GRCh37	4	366775	366775	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	65	0	ENST00000240499.7:c.549T>A	p.Phe183Leu	p.F183L	ENST00000240499	NM_003441.2	183	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS33931.1	549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTTCACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF102,hmmpanther:PTHR24384,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000240499	.	4/4	.	.	.	.	.	.	.	.	COSM1055033	4/4	nonpreferredpair	ENST00000240499	Transcript	1	.	ENSG00000131127	12926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.827)	.	tolerated(1)	1	ZN141_HUMAN	ZNF141	HGNC	Q4W5N2_HUMAN	.	UPI000013C2FB	SNV	ZNF141,missense_variant,p.Phe183Leu,ENST00000240499,;ZNF141,missense_variant,p.Phe183Leu,ENST00000512994,;ZNF141,intron_variant,,ENST00000505939,;ZNF141,non_coding_transcript_exon_variant,,ENST00000366506,;	698	65	79	SUCCESS
ATP8A1	10396	.	GRCh37	4	42553255	42553255	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	37	89	0	ENST00000381668.5:c.1562T>C	p.Val521Ala	p.V521A	ENST00000381668	NM_006095.2	521	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS3466.1	1562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAACAAAA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Pfam_domain:PF12710,Superfamily_domains:SSF81660	.	.	ENSP00000371084	.	18/37	.	.	.	.	.	.	.	.	.	18/37	nonpreferredpair	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.07)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Val521Ala,ENST00000381668,;ATP8A1,missense_variant,p.Val506Ala,ENST00000264449,;ATP8A1,downstream_gene_variant,,ENST00000506713,;	1794	89	136	SUCCESS
EVC2	132884	.	GRCh37	4	5633629	5633629	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	81	0	ENST00000344408.5:c.1601G>A	p.Arg534Lys	p.R534K	ENST00000344408	NM_147127.4	534	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS3382.2	1601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTCTGG	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	11/22	.	.	.	.	.	.	.	.	.	11/22	nonpreferredpair	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Arg534Lys,ENST00000344938,;EVC2,missense_variant,p.Arg454Lys,ENST00000310917,;EVC2,missense_variant,p.Arg534Lys,ENST00000344408,;EVC2,missense_variant,p.Arg454Lys,ENST00000475313,;EVC2,synonymous_variant,p.%3D,ENST00000509670,;	1655	81	69	SUCCESS
UGT2B4	7363	.	GRCh37	4	70360887	70360889	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	81	14	90	0	ENST00000305107.6:c.691_693del	p.Lys231del	p.K231del	ENST00000305107	NM_021139.2	231	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS43234.1	691-693	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCCACTTCTTCA	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,inframe_deletion,p.Lys231del,ENST00000305107,;UGT2B4,inframe_deletion,p.Lys231del,ENST00000512583,;UGT2B4,inframe_deletion,p.Lys95del,ENST00000381096,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;	738-740	90	95	SUCCESS
GIN1	54826	.	GRCh37	5	102433403	102433403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782668467	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	82	0	ENST00000399004.2:c.722G>A	p.Ser241Asn	p.S241N	ENST00000399004	NM_017676.2	241	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS43349.1	722	MUTECT|MUSE	.	GTGTACTTTCC	NONE	.	.	PROSITE_profiles:PS50994,hmmpanther:PTHR24559:SF168,hmmpanther:PTHR24559,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000381970	.	5/8	.	.	.	.	.	.	.	.	rs782668467	5/8	nonpreferredpair	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.32)	.	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,missense_variant,p.Ser241Asn,ENST00000399004,;GIN1,intron_variant,,ENST00000508629,;GIN1,upstream_gene_variant,,ENST00000507478,;GIN1,downstream_gene_variant,,ENST00000511400,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,intron_variant,,ENST00000513747,;	817	82	111	SUCCESS
FBN2	2201	.	GRCh37	5	127686699	127686699	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	53	0	ENST00000262464.4:c.2675-2A>G		p.X892_splice	ENST00000262464	NM_001999.3	892		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34222.1	.	MUTECT|MUSE	.	CTGTCTGAAAA	NONE	.	.	.	.	.	ENSP00000424571	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	HIGH	26/70	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,splice_acceptor_variant,,ENST00000262464,;FBN2,splice_acceptor_variant,,ENST00000508053,;FBN2,splice_acceptor_variant,,ENST00000508989,;	.	53	79	SUCCESS
SLC27A6	28965	.	GRCh37	5	128365345	128365345	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	64	0	ENST00000262462.4:c.1628A>G	p.Glu543Gly	p.E543G	ENST00000262462		543	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4145.1	1628	MUTECT|MUSE	.	TTATGAACAAG	NONE	.	.	hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Pfam_domain:PF13193,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	.	.	ENSP00000262462	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.071)	.	deleterious(0.05)	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,missense_variant,p.Glu543Gly,ENST00000506176,;SLC27A6,missense_variant,p.Glu543Gly,ENST00000395266,;SLC27A6,missense_variant,p.Glu543Gly,ENST00000262462,;	2638	64	92	SUCCESS
DNAH5	1767	.	GRCh37	5	13820597	13820597	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	75	0	ENST00000265104.4:c.6699T>C	p.Ala2233=	p.A2233=	ENST00000265104	NM_001369.2	2233	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3882.1	6699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAGCTTC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	41/79	.	.	.	.	.	.	.	.	.	41/79	nonpreferredpair	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;	6804	75	105	SUCCESS
PCDHA5	56143	.	GRCh37	5	140203594	140203594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	15	138	0	ENST00000529859.1:c.2234G>T	p.Gly745Val	p.G745V	ENST00000529859	NM_018908.2	745	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54917.1	2234	MUSE|VARSCANS	.	GGTGGGGAGCT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.731)	.	deleterious_low_confidence(0)	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Gly745Val,ENST00000529619,;PCDHA5,missense_variant,p.Gly745Val,ENST00000378126,;PCDHA5,missense_variant,p.Gly745Val,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	2234	138	122	SUCCESS
PCDHAC1	56135	.	GRCh37	5	140307840	140307840	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	31	0	ENST00000253807.2:c.1363G>C	p.Ala455Pro	p.A455P	ENST00000253807	NM_018898.3	455	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS4241.1	1363	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTGCTGAA	BUFFER|p.F453F|c.1359C>T|3	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,PROSITE_profiles:PS50268	.	.	ENSP00000253807	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000253807	Transcript	.	.	ENSG00000248383	8676	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(0.3)	.	PCDC1_HUMAN	PCDHAC1	HGNC	.	.	UPI000013CDF7	SNV	PCDHAC1,missense_variant,p.Ala455Pro,ENST00000253807,;PCDHAC1,missense_variant,p.Ala455Pro,ENST00000409700,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA13,intron_variant,,ENST00000289272,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,intron_variant,,ENST00000409494,;	1363	31	49	SUCCESS
ADRB2	154	.	GRCh37	5	148207094	148207094	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	39	71	0	ENST00000305988.4:c.700G>C	p.Asp234His	p.D234H	ENST00000305988	NM_000024.5	234	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4292.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTGACAAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF21,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00562	.	.	ENSP00000305372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000305988	Transcript	1	.	ENSG00000169252	286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0)	.	ADRB2_HUMAN	ADRB2	HGNC	Q9BYZ0_HUMAN	.	UPI000013EAD0	SNV	ADRB2,missense_variant,p.Asp234His,ENST00000305988,;	939	71	99	SUCCESS
FAT2	2196	.	GRCh37	5	150948274	150948274	+	synonymous_variant	Silent	SNP	G	G	T	rs1219424693	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	43	175	0	ENST00000261800.5:c.219C>A	p.Ile73=	p.I73=	ENST00000261800	NM_001447.2	73	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4317.1	219	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATGATCCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	nonpreferredpair	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	232	175	204	SUCCESS
DOK3	79930	.	GRCh37	5	176931755	176931755	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751359031	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	172	1	ENST00000357198.4:c.802G>A	p.Gly268Ser	p.G268S	ENST00000357198	NM_024872.2	268	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4426.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCGAACT	NONE	byFrequency	.	PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF42,Pfam_domain:PF02174,Gene3D:2.30.29.30,SMART_domains:SM00310,Superfamily_domains:SSF50729	.	.	ENSP00000349727	.	5/6	.	.	.	.	.	.	.	.	rs751359031	5/6	nonpreferredpair	ENST00000357198	Transcript	.	.	ENSG00000146094	24583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DOK3_HUMAN	DOK3	HGNC	D6RC22_HUMAN,D6RAZ9_HUMAN,D6RAV2_HUMAN,D6RAM3_HUMAN,D6R977_HUMAN,D6R951_HUMAN	.	UPI000013DA2C	SNV	DOK3,missense_variant,p.Gly212Ser,ENST00000312943,;DOK3,missense_variant,p.Gly212Ser,ENST00000510380,;DOK3,missense_variant,p.Gly212Ser,ENST00000501403,;DOK3,missense_variant,p.Gly268Ser,ENST00000357198,;DOK3,missense_variant,p.Gly110Ser,ENST00000377112,;DOK3,downstream_gene_variant,,ENST00000506493,;DOK3,downstream_gene_variant,,ENST00000502885,;DOK3,downstream_gene_variant,,ENST00000510898,;DOK3,downstream_gene_variant,,ENST00000510389,;DOK3,downstream_gene_variant,,ENST00000509310,;RP11-1334A24.6,downstream_gene_variant,,ENST00000506025,;DOK3,non_coding_transcript_exon_variant,,ENST00000500323,;DOK3,downstream_gene_variant,,ENST00000512660,;DOK3,downstream_gene_variant,,ENST00000502380,;	807	173	114	SUCCESS
PRDM9	56979	.	GRCh37	5	23527194	23527194	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	20	87	0	ENST00000296682.3:c.1997G>A	p.Cys666Tyr	p.C666Y	ENST00000296682	NM_020227.2	666	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS43307.1	1997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGCAGGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	.	.	ENSP00000296682	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,missense_variant,p.Cys666Tyr,ENST00000296682,;	2179	87	107	SUCCESS
BRIX1	55299	.	GRCh37	5	34925045	34925045	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	13	0	ENST00000336767.5:c.757T>G	p.Leu253Val	p.L253V	ENST00000336767	NM_018321.3	253	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS34143.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTTTATAT	NONE	.	.	hmmpanther:PTHR13634	.	.	ENSP00000338862	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000336767	Transcript	.	.	ENSG00000113460	24170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	tolerated(0.06)	.	BRX1_HUMAN	BRIX1	HGNC	Q9NUW4_HUMAN	.	UPI000007186B	SNV	BRIX1,missense_variant,p.Leu253Val,ENST00000336767,;DNAJC21,upstream_gene_variant,,ENST00000303525,;DNAJC21,upstream_gene_variant,,ENST00000342382,;DNAJC21,upstream_gene_variant,,ENST00000382021,;BRIX1,non_coding_transcript_exon_variant,,ENST00000506023,;BRIX1,non_coding_transcript_exon_variant,,ENST00000515798,;BRIX1,downstream_gene_variant,,ENST00000510834,;BRIX1,downstream_gene_variant,,ENST00000510960,;	1120	13	29	SUCCESS
C7	730	.	GRCh37	5	40945320	40945320	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	5	79	0	ENST00000313164.9:c.588T>A	p.Phe196Leu	p.F196L	ENST00000313164	NM_000587.2	196	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS47201.1	588	MUTECT|MUSE	.	GATTTTAATTA	NONE	.	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF312	.	.	ENSP00000322061	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000313164	Transcript	1	.	ENSG00000112936	1346	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.414)	.	tolerated(0.06)	.	CO7_HUMAN	C7	HGNC	.	.	UPI000020CA08	SNV	C7,missense_variant,p.Phe196Leu,ENST00000313164,;C7,non_coding_transcript_exon_variant,,ENST00000508185,;	947	79	137	SUCCESS
CEP85L	387119	.	GRCh37	6	118832526	118832526	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138089888	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	26	94	0	ENST00000368491.3:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000368491	NM_001042475.2	398	Cgg/Tgg	0	A:0.0009	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS55052.1	1201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGTAATT	NONE	byCluster|by1000G	.	hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF2	A:0	A:0	ENSP00000357474	A:0	6/14	.	.	.	.	.	.	.	.	rs138089888,COSM1440125	6/14	nonpreferredpair	ENST00000368488	Transcript	.	A:0.0002	ENSG00000111860	21638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.429)	A:0	deleterious(0)	0,1	CE85L_HUMAN	CEP85L	HGNC	A2A3P3_HUMAN	.	UPI0001D1E40A	SNV	CEP85L,missense_variant,p.Arg401Trp,ENST00000434604,;CEP85L,missense_variant,p.Arg296Trp,ENST00000360290,;CEP85L,missense_variant,p.Arg398Trp,ENST00000419517,;CEP85L,missense_variant,p.Arg401Trp,ENST00000392500,;CEP85L,missense_variant,p.Arg401Trp,ENST00000368488,;CEP85L,missense_variant,p.Arg398Trp,ENST00000368491,;	1268	94	101	SUCCESS
TBC1D32	221322	.	GRCh37	6	121625734	121625734	+	synonymous_variant	Silent	SNP	A	A	G	rs775508858	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	53	0	ENST00000398212.2:c.807T>C	p.Asn269=	p.N269=	ENST00000398212	NM_152730.4	269	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS43501.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGATTTTC	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	7/32	.	.	.	.	.	.	.	.	rs775508858	7/32	nonpreferredpair	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,synonymous_variant,p.%3D,ENST00000398212,;TBC1D32,synonymous_variant,p.%3D,ENST00000275159,;TBC1D32,downstream_gene_variant,,ENST00000422369,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	857	53	52	SUCCESS
KIAA1244	0	.	GRCh37	6	138640960	138640960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	56	184	0	ENST00000251691.4:c.4595C>T	p.Ala1532Val	p.A1532V	ENST00000251691	NM_020340.4	1532	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5189.2	4595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGCTATTG	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	28/34	.	.	.	.	.	.	.	.	.	28/34	nonpreferredpair	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Ala1532Val,ENST00000251691,;	4761	184	160	SUCCESS
PRSS16	10279	.	GRCh37	6	27220730	27220730	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	11	138	0	ENST00000230582.3:c.1150+2T>C		p.X384_splice	ENST00000230582	NM_005865.3	384		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4623.1	.	MUTECT|MUSE|VARSCANS	.	TTCTGTAAGTG	BUFFER|p.F381F|c.1143C>T|5	.	.	.	.	.	ENSP00000230582	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	HIGH	9/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,splice_donor_variant,,ENST00000485993,;PRSS16,splice_donor_variant,,ENST00000475106,;PRSS16,splice_donor_variant,,ENST00000230582,;PRSS16,splice_donor_variant,,ENST00000421826,;PRSS16,splice_donor_variant,,ENST00000468138,;PRSS16,splice_donor_variant,,ENST00000459736,;PRSS16,splice_donor_variant,,ENST00000484493,;PRSS16,intron_variant,,ENST00000471463,;PRSS16,intron_variant,,ENST00000478690,;PRSS16,intron_variant,,ENST00000377456,;PRSS16,splice_donor_variant,,ENST00000481125,;PRSS16,splice_donor_variant,,ENST00000492575,;PRSS16,splice_donor_variant,,ENST00000470870,;PRSS16,splice_donor_variant,,ENST00000454665,;PRSS16,splice_donor_variant,,ENST00000488649,;PRSS16,splice_donor_variant,,ENST00000468930,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,downstream_gene_variant,,ENST00000462664,;	.	138	143	SUCCESS
HCP5	10866	.	GRCh37	6	31378413	31378413	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	51	208	0	ENST00000414046.2:n.62+9873C>T		p.*21*	ENST00000414046		55		0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS56412.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCCTTCC	NONE	.	.	Superfamily_domains:SSF54452,Pfam_domain:PF00129,Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF138	.	.	ENSP00000413079	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000449934	Transcript	.	.	ENSG00000204520	7090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.94)	.	.	MICA	HGNC	Q96QC4_HUMAN,P79540_HUMAN,P79539_HUMAN,P79533_HUMAN,P79531_HUMAN,P79530_HUMAN,P79527_HUMAN,P78551_HUMAN,L0L8F7_HUMAN,J9YLR7_HUMAN,F5CQ57_HUMAN,F5CIT5_HUMAN	.	UPI000006F0B0	SNV	MICA,missense_variant,p.Pro55Leu,ENST00000449934,;MICA,missense_variant,p.Pro42Leu,ENST00000421350,;HCP5,intron_variant,,ENST00000414046,;	218	208	212	SUCCESS
PPIL1	51645	.	GRCh37	6	36839673	36839673	+	intron_variant	Intron	SNP	C	C	G	rs772430665	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	57	52	0	ENST00000373699.5:c.57-25G>C		p.*19*	ENST00000373699	NM_016059.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4826.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCAGTA	NONE	byFrequency	.	.	.	.	ENSP00000362803	.	.	.	.	.	.	.	.	.	.	rs772430665	.	nonpreferredpair	ENST00000373699	Transcript	.	.	ENSG00000137168	9260	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPIL1_HUMAN	PPIL1	HGNC	.	.	UPI000004C600	SNV	C6orf89,5_prime_UTR_variant,,ENST00000510325,;C6orf89,5_prime_UTR_variant,,ENST00000359359,;PPIL1,intron_variant,,ENST00000373699,;	.	52	111	SUCCESS
KCNK16	83795	.	GRCh37	6	39285579	39285579	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746438375	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	71	0	ENST00000373229.5:c.478C>A	p.Arg160Ser	p.R160S	ENST00000373229	NM_032115.3	160	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47421.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACGGTCCT	NONE	byFrequency	.	Superfamily_domains:SSF81324,Superfamily_domains:SSF81324,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF56	.	.	ENSP00000391498	.	3/5	.	.	.	.	.	.	.	.	rs746438375	3/5	nonpreferredpair	ENST00000425054	Transcript	.	.	ENSG00000095981	14464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.17)	.	KCNKG_HUMAN	KCNK16	HGNC	.	.	UPI00006838F1	SNV	KCNK16,missense_variant,p.Arg160Ser,ENST00000425054,;KCNK16,missense_variant,p.Arg160Ser,ENST00000373227,;KCNK16,missense_variant,p.Arg160Ser,ENST00000437525,;KCNK16,missense_variant,p.Arg95Ser,ENST00000507712,;KCNK16,missense_variant,p.Arg160Ser,ENST00000373229,;KCNK17,upstream_gene_variant,,ENST00000373231,;KCNK17,upstream_gene_variant,,ENST00000453413,;KCNK17,upstream_gene_variant,,ENST00000503878,;	478	71	93	SUCCESS
CUL9	23113	.	GRCh37	6	43181019	43181022	+	frameshift_variant	Frame_Shift_Del	DEL	TCAA	TCAA	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	TCAA	TCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	112	0	ENST00000252050.4:c.5348_5351del	p.Asn1783ArgfsTer7	p.N1783Rfs*7	ENST00000252050	NM_015089.2	1782	tTCAAt/tt	0	.	.	.	.	.	-	FN/X	protein_coding	YES	CCDS4890.1	5345-5348	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAATTCAATCAGA	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Gene3D:1.10.10.10,Pfam_domain:PF00888,Superfamily_domains:SSF75632	.	.	ENSP00000252050	.	27/41	.	.	.	.	.	.	.	.	.	27/41	nonpreferredpair	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	deletion	CUL9,frameshift_variant,p.Asn1673ArgfsTer7,ENST00000354495,;CUL9,frameshift_variant,p.Asn1783ArgfsTer7,ENST00000372647,;CUL9,frameshift_variant,p.Asn1783ArgfsTer7,ENST00000252050,;RP3-330M21.5,downstream_gene_variant,,ENST00000500590,;CUL9,non_coding_transcript_exon_variant,,ENST00000502937,;CUL9,3_prime_UTR_variant,,ENST00000502719,;CUL9,non_coding_transcript_exon_variant,,ENST00000513904,;CUL9,non_coding_transcript_exon_variant,,ENST00000504485,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000505172,;CUL9,upstream_gene_variant,,ENST00000506830,;CUL9,upstream_gene_variant,,ENST00000508656,;	5429-5432	112	90	SUCCESS
YIPF3	25844	.	GRCh37	6	43480544	43480544	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	31	143	0	ENST00000372422.2:c.735C>G	p.Phe245Leu	p.F245L	ENST00000372422	NM_015388.3	245	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS4899.1	735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTAGAAGAG	NONE	.	.	hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14,Transmembrane_helices:TMhelix	.	.	ENSP00000361499	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000372422	Transcript	.	.	ENSG00000137207	21023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	YIPF3_HUMAN	YIPF3	HGNC	Q5JTD5_HUMAN,D6RGY8_HUMAN	.	UPI0000037775	SNV	YIPF3,missense_variant,p.Phe251Leu,ENST00000506469,;YIPF3,missense_variant,p.Phe211Leu,ENST00000503972,;YIPF3,missense_variant,p.Phe245Leu,ENST00000372422,;POLR1C,intron_variant,,ENST00000428025,;POLR1C,upstream_gene_variant,,ENST00000372389,;POLR1C,upstream_gene_variant,,ENST00000372344,;LRRC73,upstream_gene_variant,,ENST00000372441,;POLR1C,upstream_gene_variant,,ENST00000304004,;YIPF3,downstream_gene_variant,,ENST00000500090,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,downstream_gene_variant,,ENST00000511831,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000455768,;YIPF3,3_prime_UTR_variant,,ENST00000416380,;YIPF3,3_prime_UTR_variant,,ENST00000460547,;YIPF3,non_coding_transcript_exon_variant,,ENST00000503147,;YIPF3,non_coding_transcript_exon_variant,,ENST00000512713,;YIPF3,non_coding_transcript_exon_variant,,ENST00000514627,;YIPF3,downstream_gene_variant,,ENST00000488966,;POLR1C,upstream_gene_variant,,ENST00000455605,;YIPF3,downstream_gene_variant,,ENST00000460903,;YIPF3,downstream_gene_variant,,ENST00000502714,;POLR1C,upstream_gene_variant,,ENST00000488601,;POLR1C,upstream_gene_variant,,ENST00000481352,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,downstream_gene_variant,,ENST00000372417,;	918	143	167	SUCCESS
RIOK1	83732	.	GRCh37	6	7390192	7390192	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	29	143	0	ENST00000379834.2:c.-44C>A		p.*15*	ENST00000379834	NM_031480.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4500.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTCCTTTC	NONE	.	.	.	.	.	ENSP00000369162	.	1/17	.	.	.	.	.	.	.	.	.	1/17	nonpreferredpair	ENST00000379834	Transcript	.	.	ENSG00000124784	18656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIOK1_HUMAN	RIOK1	HGNC	Q9H2L9_HUMAN	.	UPI000003FDCE	SNV	RIOK1,5_prime_UTR_variant,,ENST00000379834,;CAGE1,upstream_gene_variant,,ENST00000512086,;CAGE1,upstream_gene_variant,,ENST00000502583,;CAGE1,upstream_gene_variant,,ENST00000379918,;CAGE1,upstream_gene_variant,,ENST00000338150,;CAGE1,upstream_gene_variant,,ENST00000512691,;CAGE1,upstream_gene_variant,,ENST00000296742,;CAGE1,upstream_gene_variant,,ENST00000509324,;RIOK1,5_prime_UTR_variant,,ENST00000475351,;CAGE1,upstream_gene_variant,,ENST00000442019,;CAGE1,upstream_gene_variant,,ENST00000458291,;	464	143	105	SUCCESS
CUX1	1523	.	GRCh37	7	101877505	101877505	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	24	0	ENST00000292535.7:c.3607C>T	p.Arg1203Trp	p.R1203W	ENST00000292535	NM_181552.3	1203	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS56498.1	3640	MUTECT|MUSE	.	TGAAACGGATG	NONE	.	.	PROSITE_profiles:PS51042,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043,Superfamily_domains:SSF47413	.	.	ENSP00000353401	.	22/24	.	.	.	.	.	.	.	.	.	22/24	nonpreferredpair	ENST00000360264	Transcript	.	.	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,missense_variant,p.Arg1101Trp,ENST00000546411,;CUX1,missense_variant,p.Arg1045Trp,ENST00000556210,;CUX1,missense_variant,p.Arg1181Trp,ENST00000549414,;CUX1,missense_variant,p.Arg1214Trp,ENST00000360264,;CUX1,missense_variant,p.Arg1203Trp,ENST00000292535,;CUX1,missense_variant,p.Arg1147Trp,ENST00000550008,;CUX1,intron_variant,,ENST00000437600,;CUX1,intron_variant,,ENST00000547394,;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000425244,;CUX1,intron_variant,,ENST00000393824,;AC005088.1,downstream_gene_variant,,ENST00000580604,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	3660	24	34	SUCCESS
KMT2E	55904	.	GRCh37	7	104741930	104741930	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	14	0	ENST00000257745.4:c.1781G>A	p.Arg594Lys	p.R594K	ENST00000257745	NM_018682.3	594	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS34723.1	1781	MUTECT|MUSE	.	AAAGAGAGAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	.	.	ENSP00000312379	.	16/27	.	.	.	.	.	.	.	.	.	16/27	nonpreferredpair	ENST00000311117	Transcript	.	.	ENSG00000005483	18541	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.067)	.	deleterious(0.02)	.	KMT2E_HUMAN	KMT2E	HGNC	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN	.	UPI0000074133	SNV	KMT2E,missense_variant,p.Arg594Lys,ENST00000311117,;KMT2E,missense_variant,p.Arg5Lys,ENST00000479838,;KMT2E,missense_variant,p.Arg594Lys,ENST00000257745,;KMT2E,missense_variant,p.Arg594Lys,ENST00000334877,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;CTB-152G17.6,downstream_gene_variant,,ENST00000607968,;KMT2E,missense_variant,p.Arg594Lys,ENST00000334884,;	2326	14	11	SUCCESS
ST7-OT4	338069	.	GRCh37	7	116596768	116596768	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	41	0	ENST00000397750.3:c.361A>G	p.Ile121Val	p.I121V	ENST00000397750		121	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCATATTT	NONE	.	.	.	.	.	ENSP00000380858	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000397750	Transcript	.	.	ENSG00000214188	18835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious_low_confidence(0)	.	.	ST7-OT4	HGNC	A8MTU0_HUMAN	.	UPI000020F980	SNV	ST7-OT4,missense_variant,p.Ile23Val,ENST00000597499,;ST7-OT4,missense_variant,p.Ile121Val,ENST00000397751,;ST7-OT4,missense_variant,p.Ile121Val,ENST00000397750,;ST7,intron_variant,,ENST00000393449,;ST7,intron_variant,,ENST00000417919,;ST7,intron_variant,,ENST00000446490,;ST7,intron_variant,,ENST00000393451,;ST7,intron_variant,,ENST00000393446,;ST7,intron_variant,,ENST00000323984,;ST7,intron_variant,,ENST00000265437,;ST7,intron_variant,,ENST00000421345,;ST7-AS1,upstream_gene_variant,,ENST00000456775,;ST7-OT4,intron_variant,,ENST00000471110,;ST7-OT4,intron_variant,,ENST00000470996,;ST7-OT4,intron_variant,,ENST00000466018,;ST7,intron_variant,,ENST00000438863,;ST7,intron_variant,,ENST00000443979,;	902	41	59	SUCCESS
PAX4	5078	.	GRCh37	7	127255087	127255087	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	103	0	ENST00000341640.2:c.183A>G	p.Pro61=	p.P61=	ENST00000341640	NM_006193.2	61	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5797.1	183	MUTECT|MUSE	.	CCCTTTGGCTC	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Gene3D:1.10.10.10,Pfam_domain:PF00292,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,PROSITE_profiles:PS51057	.	.	ENSP00000339906	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000341640	Transcript	.	.	ENSG00000106331	8618	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,synonymous_variant,p.%3D,ENST00000463946,;PAX4,synonymous_variant,p.%3D,ENST00000338516,;PAX4,synonymous_variant,p.%3D,ENST00000378740,;PAX4,synonymous_variant,p.%3D,ENST00000341640,;PAX4,synonymous_variant,p.%3D,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;	389	103	74	SUCCESS
INTS1	26173	.	GRCh37	7	1535088	1535088	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773976282	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	38	0	ENST00000404767.3:c.1813C>A	p.Pro605Thr	p.P605T	ENST00000404767	NM_001080453.2	605	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS47526.1	1813	MUTECT|MUSE	.	CTTAGGGGCGA	NONE	.	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224	.	.	ENSP00000385722	.	13/48	.	.	.	.	.	.	.	.	rs773976282	13/48	nonpreferredpair	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	deleterious(0.04)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Pro605Thr,ENST00000404767,;INTS1,missense_variant,p.Pro733Thr,ENST00000389470,;INTS1,non_coding_transcript_exon_variant,,ENST00000496988,;INTS1,downstream_gene_variant,,ENST00000493531,;INTS1,upstream_gene_variant,,ENST00000468115,;	1899	38	40	SUCCESS
TRGC1	6966	.	GRCh37	7	38305036	38305036	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770761246	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	62	180	0	ENST00000443402.2:c.245T>C	p.Leu82Pro	p.L82P	ENST00000443402	NM_001003806.1	82	cTg/cCg	0	.	.	.	.	.	G	L/P	TR_C_gene	YES	.	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAGTGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19256,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000404817	.	1/3	.	.	.	.	.	.	.	.	rs770761246	1/3	nonpreferredpair	ENST00000443402	Transcript	.	.	ENSG00000211689	12275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.136)	.	tolerated(0.1)	.	.	TRGC1	HGNC	Q0VGM3_HUMAN	.	UPI0000F3036A	SNV	TRGC1,missense_variant,p.Leu82Pro,ENST00000443402,;TRGJ1,downstream_gene_variant,,ENST00000390337,;	244	180	218	SUCCESS
GLI3	2737	.	GRCh37	7	42262748	42262748	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	82	0	ENST00000395925.3:c.105C>T	p.Ala35=	p.A35=	ENST00000395925	NM_000168.5	35	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5465.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGCAAC	NONE	.	.	.	.	.	ENSP00000379258	.	2/15	.	.	.	.	.	.	.	.	.	2/15	nonpreferredpair	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,synonymous_variant,p.%3D,ENST00000448703,;GLI3,synonymous_variant,p.%3D,ENST00000437480,;GLI3,synonymous_variant,p.%3D,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000428534,;	190	82	71	SUCCESS
USP42	84132	.	GRCh37	7	6194392	6194392	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	37	0	ENST00000306177.5:c.3207C>T	p.Tyr1069=	p.Y1069=	ENST00000306177	NM_032172.2	1069	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS47535.1	3207	RADIA|SOMATICSNIPER|MUSE	.	CTGTACGCTGC	NONE	.	.	hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006	.	.	ENSP00000301962	.	15/18	.	.	.	.	.	.	.	.	.	15/18	nonpreferredpair	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,downstream_gene_variant,,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	3365	37	18	SUCCESS
RGS22	26166	.	GRCh37	8	100994297	100994297	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	99	0	ENST00000360863.6:c.3228T>C	p.Ile1076=	p.I1076=	ENST00000360863	NM_015668.3	1076	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS43758.1	3228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTAATCTT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845,Gene3D:1.10.167.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000354109	.	22/28	.	.	.	.	.	.	.	.	.	22/28	nonpreferredpair	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,synonymous_variant,p.%3D,ENST00000523287,;RGS22,synonymous_variant,p.%3D,ENST00000523437,;RGS22,synonymous_variant,p.%3D,ENST00000360863,;RGS22,upstream_gene_variant,,ENST00000517843,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;	3423	99	88	SUCCESS
RIMS2	9699	.	GRCh37	8	104930679	104930679	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	93	0	ENST00000406091.3:c.2047C>A	p.Arg683=	p.R683=	ENST00000406091	NM_001100117.2	683	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS55269.1	2047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCGCGAATA	NONE	.	.	hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	9/24	.	.	.	.	.	.	.	.	COSM2149316,COSM2149315,COSM2149312,COSM2149314,COSM2149313	9/24	nonpreferredpair	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,synonymous_variant,p.%3D,ENST00000408894,;RIMS2,synonymous_variant,p.%3D,ENST00000504942,;RIMS2,synonymous_variant,p.%3D,ENST00000507740,;RIMS2,synonymous_variant,p.%3D,ENST00000436393,;RIMS2,synonymous_variant,p.%3D,ENST00000406091,;RIMS2,synonymous_variant,p.%3D,ENST00000515551,;RIMS2,synonymous_variant,p.%3D,ENST00000262231,;RIMS2,non_coding_transcript_exon_variant,,ENST00000501515,;RIMS2,non_coding_transcript_exon_variant,,ENST00000507677,;RIMS2,non_coding_transcript_exon_variant,,ENST00000511046,;RIMS2,non_coding_transcript_exon_variant,,ENST00000512598,;	2047	93	107	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110417294	110417294	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	63	0	ENST00000378402.5:c.1604C>T	p.Pro535Leu	p.P535L	ENST00000378402	NM_177531.4	535	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47911.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCATGTG	NONE	.	.	.	.	.	ENSP00000367655	.	16/78	.	.	.	.	.	.	.	.	COSM387926	16/78	nonpreferredpair	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.019)	.	tolerated(0.12)	1	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Pro535Leu,ENST00000378402,;	1708	63	91	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110539189	110539189	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	116	0	ENST00000378402.5:c.12661G>T	p.Gly4221Ter	p.G4221*	ENST00000378402	NM_177531.4	4221	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS47911.1	12661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGGAAGA	NONE	.	.	.	.	.	ENSP00000367655	.	77/78	.	.	.	.	.	.	.	.	.	77/78	nonpreferredpair	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,stop_gained,p.Gly1149Ter,ENST00000526472,;PKHD1L1,stop_gained,p.Gly4221Ter,ENST00000378402,;PKHD1L1,non_coding_transcript_exon_variant,,ENST00000534623,;	12765	116	115	SUCCESS
TG	7038	.	GRCh37	8	133953779	133953779	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	70	308	0	ENST00000220616.4:c.5225T>C	p.Val1742Ala	p.V1742A	ENST00000220616	NM_003235.4	1742	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS34944.1	5225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTTCAAG	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	26/48	.	.	.	.	.	.	.	.	.	26/48	nonpreferredpair	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	deleterious(0.02)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Val1742Ala,ENST00000220616,;TG,missense_variant,p.Val1685Ala,ENST00000377869,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;	5265	308	262	SUCCESS
PLEC	5339	.	GRCh37	8	144995161	144995161	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782066196	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	60	0	ENST00000322810.4:c.9239G>A	p.Arg3080Gln	p.R3080Q	ENST00000322810	NM_201380.2	3080	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS43772.1	9239	RADIA|MUSE	.	ACTGCCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915	.	.	ENSP00000323856	.	32/32	.	.	.	.	.	.	.	.	rs782066196	32/32	nonpreferredpair	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.459)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Arg3080Gln,ENST00000322810,;PLEC,missense_variant,p.Arg2966Gln,ENST00000527096,;PLEC,missense_variant,p.Arg2943Gln,ENST00000345136,;PLEC,missense_variant,p.Arg2947Gln,ENST00000357649,;PLEC,missense_variant,p.Arg2911Gln,ENST00000398774,;PLEC,missense_variant,p.Arg2943Gln,ENST00000354589,;PLEC,missense_variant,p.Arg2929Gln,ENST00000356346,;PLEC,missense_variant,p.Arg2970Gln,ENST00000436759,;PLEC,missense_variant,p.Arg2921Gln,ENST00000354958,;PLEC,downstream_gene_variant,,ENST00000527303,;	9409	60	36	SUCCESS
BMP1	649	.	GRCh37	8	22052004	22052004	+	synonymous_variant	Silent	SNP	G	G	A	rs199778498	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	49	103	1	ENST00000306385.5:c.1344G>A	p.Ser448=	p.S448=	ENST00000306385	NM_006129.4	448	tcG/tcA	0	.	A:0.0008	.	A:0	.	A	S	protein_coding	YES	CCDS6026.1	1344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCGCCCAA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF305,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	A:0	.	ENSP00000305714	A:0	11/20	.	.	.	.	.	.	.	.	rs199778498	11/20	nonpreferredpair	ENST00000306385	Transcript	1	A:0.0002	ENSG00000168487	1067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	BMP1_HUMAN	BMP1	HGNC	.	.	UPI0000049818	SNV	BMP1,synonymous_variant,p.%3D,ENST00000306385,;BMP1,synonymous_variant,p.%3D,ENST00000306349,;BMP1,synonymous_variant,p.%3D,ENST00000397816,;BMP1,synonymous_variant,p.%3D,ENST00000397814,;BMP1,3_prime_UTR_variant,,ENST00000354870,;BMP1,non_coding_transcript_exon_variant,,ENST00000523749,;BMP1,synonymous_variant,p.%3D,ENST00000471755,;BMP1,synonymous_variant,p.%3D,ENST00000521385,;BMP1,synonymous_variant,p.%3D,ENST00000520970,;BMP1,3_prime_UTR_variant,,ENST00000483364,;BMP1,3_prime_UTR_variant,,ENST00000518913,;BMP1,3_prime_UTR_variant,,ENST00000520626,;BMP1,3_prime_UTR_variant,,ENST00000520982,;BMP1,non_coding_transcript_exon_variant,,ENST00000517324,;BMP1,downstream_gene_variant,,ENST00000523457,;BMP1,upstream_gene_variant,,ENST00000522332,;	2014	104	108	SUCCESS
KIF13B	23303	.	GRCh37	8	28950346	28950346	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	84	0	ENST00000524189.1:c.4374G>C	p.Val1458=	p.V1458=	ENST00000524189	NM_015254.3	1458	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS55217.1	4374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGCACGAA	NONE	.	.	.	.	.	ENSP00000427900	.	37/40	.	.	.	.	.	.	.	.	.	37/40	nonpreferredpair	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,synonymous_variant,p.%3D,ENST00000523130,;KIF13B,synonymous_variant,p.%3D,ENST00000524189,;KIF13B,5_prime_UTR_variant,,ENST00000404075,;	4413	84	55	SUCCESS
ZMAT4	79698	.	GRCh37	8	40532341	40532341	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	24	119	1	ENST00000297737.6:c.459G>A	p.Trp153Ter	p.W153*	ENST00000297737	NM_024645.2	153	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS34885.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAACCAGGC	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19,PROSITE_patterns:PS00028,Pfam_domain:PF12171,SMART_domains:SM00451,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000297737	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,stop_gained,p.Trp153Ter,ENST00000297737,;ZMAT4,stop_gained,p.Trp153Ter,ENST00000519406,;ZMAT4,intron_variant,,ENST00000315769,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000519806,;	606	120	112	SUCCESS
SLC7A13	157724	.	GRCh37	8	87235302	87235302	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	58	0	ENST00000297524.3:c.716C>T	p.Pro239Leu	p.P239L	ENST00000297524	NM_138817.2	239	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS34917.1	716	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGGAATT	NONE	.	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000297524	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000297524	Transcript	.	.	ENSG00000164893	23092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	tolerated(0.07)	.	S7A13_HUMAN	SLC7A13	HGNC	.	.	UPI000006DF39	SNV	SLC7A13,missense_variant,p.Pro230Leu,ENST00000419776,;SLC7A13,missense_variant,p.Pro239Leu,ENST00000297524,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;	820	58	78	SUCCESS
RMDN1	51115	.	GRCh37	8	87492510	87492511	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	108	27	75	0	ENST00000406452.3:c.636dup	p.Ile213TyrfsTer18	p.I213Yfs*18	ENST00000406452	NM_016033.2	212	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS34918.1	636-637	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAATACCCA	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR16056	.	.	ENSP00000385927	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000406452	Transcript	.	.	ENSG00000176623	24285	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RMD1_HUMAN	RMDN1	HGNC	E5RGC8_HUMAN	.	UPI0000073168	insertion	RMDN1,frameshift_variant,p.Ile183TyrfsTer18,ENST00000519966,;RMDN1,frameshift_variant,p.Ile19TyrfsTer18,ENST00000522942,;RMDN1,frameshift_variant,p.Ile59TyrfsTer18,ENST00000519639,;RMDN1,frameshift_variant,p.Ile213TyrfsTer18,ENST00000406452,;RMDN1,frameshift_variant,p.Ile169TyrfsTer18,ENST00000523911,;RMDN1,frameshift_variant,p.Ile77TyrfsTer18,ENST00000520719,;RMDN1,frameshift_variant,p.Ile183TyrfsTer18,ENST00000430676,;RMDN1,frameshift_variant,p.Ile159TyrfsTer18,ENST00000519789,;WWP1,downstream_gene_variant,,ENST00000520798,;CPNE3,upstream_gene_variant,,ENST00000198765,;RMDN1,upstream_gene_variant,,ENST00000517710,;RMDN1,3_prime_UTR_variant,,ENST00000524172,;RMDN1,non_coding_transcript_exon_variant,,ENST00000519145,;RMDN1,non_coding_transcript_exon_variant,,ENST00000518390,;RMDN1,downstream_gene_variant,,ENST00000522804,;RMDN1,upstream_gene_variant,,ENST00000517821,;NTAN1P2,downstream_gene_variant,,ENST00000515730,;	796-797	75	135	SUCCESS
DECR1	1666	.	GRCh37	8	91031397	91031397	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	83	0	ENST00000220764.2:c.414T>C	p.Pro138=	p.P138=	ENST00000220764	NM_001359.1	138	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6250.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTAATGT	NONE	.	.	hmmpanther:PTHR24315,hmmpanther:PTHR24315:SF2,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000220764	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000220764	Transcript	1	.	ENSG00000104325	2753	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DECR_HUMAN	DECR1	HGNC	Q7LDK6_HUMAN,E5RJD2_HUMAN	.	UPI000004C795	SNV	DECR1,synonymous_variant,p.%3D,ENST00000517761,;DECR1,synonymous_variant,p.%3D,ENST00000520227,;DECR1,synonymous_variant,p.%3D,ENST00000522161,;DECR1,synonymous_variant,p.%3D,ENST00000220764,;DECR1,synonymous_variant,p.%3D,ENST00000519410,;DECR1,non_coding_transcript_exon_variant,,ENST00000523447,;DECR1,non_coding_transcript_exon_variant,,ENST00000519007,;DECR1,non_coding_transcript_exon_variant,,ENST00000524326,;DECR1,downstream_gene_variant,,ENST00000521668,;DECR1,3_prime_UTR_variant,,ENST00000517314,;DECR1,3_prime_UTR_variant,,ENST00000519328,;DECR1,3_prime_UTR_variant,,ENST00000518725,;DECR1,3_prime_UTR_variant,,ENST00000521603,;DECR1,3_prime_UTR_variant,,ENST00000517597,;DECR1,downstream_gene_variant,,ENST00000522583,;	502	83	94	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123298712	123298712	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	66	0	ENST00000349780.4:c.600A>G	p.Ser200=	p.S200=	ENST00000349780	NM_018249.5	200	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6823.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGAAAG	NONE	.	.	hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	.	.	ENSP00000343818	.	7/38	.	.	.	.	.	.	.	.	.	7/38	nonpreferredpair	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,synonymous_variant,p.%3D,ENST00000349780,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360822,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360190,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000359309,;CDK5RAP2,upstream_gene_variant,,ENST00000482047,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000472883,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000480112,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000473282,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000481266,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	780	66	72	SUCCESS
TLE1	7088	.	GRCh37	9	84208092	84208092	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1440453806	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	52	146	1	ENST00000376499.3:c.1429C>T	p.Gln477Ter	p.Q477*	ENST00000376499	NM_005077.3	477	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6661.1	1429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTGGCGAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR10814	.	.	ENSP00000365682	.	15/20	.	.	.	.	.	.	.	.	.	15/20	nonpreferredpair	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,stop_gained,p.Gln477Ter,ENST00000376499,;	2494	148	139	SUCCESS
BHLHB9	80823	.	GRCh37	X	102004068	102004068	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766817967	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	251	103	398	2	ENST00000361229.4:c.145G>A	p.Gly49Arg	p.G49R	ENST00000361229	NM_030639.2	49	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14502.1	145	RADIA|SOMATICSNIPER|VARSCANS	.	AGACAGGGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18	.	.	ENSP00000361820	.	4/4	.	.	.	.	.	.	.	.	rs766817967	4/4	nonpreferredpair	ENST00000372735	Transcript	.	.	ENSG00000198908	29353	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	tolerated(0.16)	.	BHLH9_HUMAN	BHLHB9	HGNC	.	.	UPI00001C1D50	SNV	BHLHB9,missense_variant,p.Gly49Arg,ENST00000448867,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000372735,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000447531,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000457056,;BHLHB9,missense_variant,p.Gly49Arg,ENST00000361229,;BHLHB9,downstream_gene_variant,,ENST00000486988,;BHLHB9,downstream_gene_variant,,ENST00000483294,;	730	400	355	SUCCESS
AMOT	154796	.	GRCh37	X	112022293	112022293	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	37	310	1	ENST00000371959.3:c.3089G>C	p.Ser1030Thr	p.S1030T	ENST00000371959	NM_001113490.1	1030	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS48154.1	3089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACTTGCA	BUFFER|p.P1028_A1029insP|c.3080_3081insTCC|6,BUFFER|p.P619_A620insP|c.1853_1854insTCC|6	.	.	hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF6	.	.	ENSP00000361027	.	10/11	.	.	.	.	.	.	.	.	COSM224135,COSM224136	10/11	nonpreferredpair	ENST00000371959	Transcript	.	.	ENSG00000126016	17810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.358)	.	.	1,1	AMOT_HUMAN	AMOT	HGNC	E7ERM3_HUMAN	.	UPI000050ED33	SNV	AMOT,missense_variant,p.Ser1030Thr,ENST00000371959,;AMOT,missense_variant,p.Ser798Thr,ENST00000371962,;AMOT,missense_variant,p.Ser621Thr,ENST00000304758,;AMOT,missense_variant,p.Ser1030Thr,ENST00000524145,;AMOT,downstream_gene_variant,,ENST00000371958,;MIR4329,downstream_gene_variant,,ENST00000582643,;	3089	311	226	SUCCESS
SLC9A6	10479	.	GRCh37	X	135067806	135067806	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	111	0	ENST00000370698.3:c.145G>A	p.Glu49Lys	p.E49K	ENST00000370698	NM_006359.2	49	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44003.1	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGAGAGGCT	NONE	.	.	hmmpanther:PTHR10110:SF94,hmmpanther:PTHR10110,Prints_domain:PR01088	.	.	ENSP00000359729	.	1/16	.	.	.	.	.	.	.	.	.	1/16	nonpreferredpair	ENST00000370695	Transcript	.	.	ENSG00000198689	11079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.17)	.	SL9A6_HUMAN	SLC9A6	HGNC	Q8WYK8_HUMAN,B4DLY9_HUMAN,B4DK83_HUMAN	.	UPI0000062320	SNV	SLC9A6,missense_variant,p.Glu49Lys,ENST00000370695,;SLC9A6,missense_variant,p.Glu49Lys,ENST00000370698,;SLC9A6,5_prime_UTR_variant,,ENST00000370701,;	180	111	56	SUCCESS
SLITRK2	84631	.	GRCh37	X	144903985	144903985	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	31	165	1	ENST00000370490.1:c.42C>A	p.Ala14=	p.A14=	ENST00000370490		14	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14680.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCGGGAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;SLITRK2,synonymous_variant,p.%3D,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	4297	166	179	SUCCESS
FLNA	2316	.	GRCh37	X	153586830	153586830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	27	171	1	ENST00000369850.3:c.4581T>A	p.Asp1527Glu	p.D1527E	ENST00000369850	NM_001110556.1	1527	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS48194.1	4581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCATCTCC	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296,Superfamily_domains:SSF81296	.	.	ENSP00000358866	.	27/48	.	.	.	.	.	.	.	.	.	27/48	nonpreferredpair	ENST00000369850	Transcript	.	.	ENSG00000196924	3754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	FLNA_HUMAN	FLNA	HGNC	Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN	.	UPI000013C596	SNV	FLNA,missense_variant,p.Asp1527Glu,ENST00000422373,;FLNA,missense_variant,p.Asp1527Glu,ENST00000360319,;FLNA,missense_variant,p.Asp1527Glu,ENST00000344736,;FLNA,missense_variant,p.Asp1527Glu,ENST00000369850,;FLNA,upstream_gene_variant,,ENST00000438732,;FLNA,upstream_gene_variant,,ENST00000369856,;FLNA,non_coding_transcript_exon_variant,,ENST00000466319,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,non_coding_transcript_exon_variant,,ENST00000490936,;FLNA,upstream_gene_variant,,ENST00000474072,;FLNA,upstream_gene_variant,,ENST00000415241,;	4818	173	155	SUCCESS
CXorf58	254158	.	GRCh37	X	23953337	23953337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	29	0	ENST00000379211.3:c.580C>A	p.Pro194Thr	p.P194T	ENST00000379211	NM_001169574.1	194	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS14209.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCCTGCA	NONE	.	.	.	.	.	ENSP00000368511	.	7/9	.	.	.	.	.	.	.	.	.	7/9	nonpreferredpair	ENST00000379211	Transcript	.	.	ENSG00000165182	26356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CX058_HUMAN	CXorf58	HGNC	.	.	UPI00001AEC5F	SNV	CXorf58,missense_variant,p.Pro194Thr,ENST00000379211,;	1129	29	23	SUCCESS
DMD	1756	.	GRCh37	X	31165436	31165436	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	8	144	0	ENST00000357033.4:c.10753C>T	p.Gln3585Ter	p.Q3585*	ENST00000357033	NM_004007.2	3585	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14233.1	10753	MUTECT|MUSE	.	CAGCTGTTTAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	75/79	.	.	.	.	.	.	.	.	.	75/79	nonpreferredpair	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,stop_gained,p.Gln3585Ter,ENST00000357033,;DMD,stop_gained,p.Gln1268Ter,ENST00000358062,;DMD,stop_gained,p.Gln517Ter,ENST00000378723,;DMD,stop_gained,p.Gln1015Ter,ENST00000343523,;DMD,stop_gained,p.Gln407Ter,ENST00000378680,;DMD,stop_gained,p.Gln1125Ter,ENST00000378707,;DMD,stop_gained,p.Gln1125Ter,ENST00000474231,;DMD,stop_gained,p.Gln3581Ter,ENST00000378677,;DMD,stop_gained,p.Gln504Ter,ENST00000361471,;DMD,stop_gained,p.Gln1112Ter,ENST00000359836,;DMD,stop_gained,p.Gln1015Ter,ENST00000541735,;DMD,stop_gained,p.Gln517Ter,ENST00000378702,;DMD,intron_variant,,ENST00000481143,;	10960	144	144	SUCCESS
CXorf30	0	.	GRCh37	X	36319234	36319234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	14	219	0	ENST00000378657.4:c.248A>T	p.Lys83Met	p.K83M	ENST00000378657	NM_001098843.4	83	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS55396.1	248	MUTECT|MUSE	.	ACTGAAGTTAA	NONE	.	.	hmmpanther:PTHR23053:SF7,hmmpanther:PTHR23053	.	.	ENSP00000367926	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000378657	Transcript	.	.	ENSG00000205081	27298	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,missense_variant,p.Lys83Met,ENST00000378657,;CXorf30,missense_variant,p.Lys368Met,ENST00000378653,;	896	219	242	SUCCESS
GPR82	27197	.	GRCh37	X	41586979	41586979	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	53	132	0	ENST00000302548.4:c.700T>A	p.Cys234Ser	p.C234S	ENST00000302548	NM_080817.4	234	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS14259.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTGTACG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000303549	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000302548	Transcript	.	.	ENSG00000171657	4533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.5)	.	GPR82_HUMAN	GPR82	HGNC	.	.	UPI000003BCD1	SNV	GPR82,missense_variant,p.Cys234Ser,ENST00000302548,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;GPR82,upstream_gene_variant,,ENST00000497180,;	940	132	173	SUCCESS
UBA1	7317	.	GRCh37	X	47072228	47072228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	260	83	339	0	ENST00000335972.6:c.2612A>G	p.Glu871Gly	p.E871G	ENST00000335972	NM_003334.3	871	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14275.1	2612	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGAAAACT	NONE	.	.	hmmpanther:PTHR10953:SF136,hmmpanther:PTHR10953,TIGRFAM_domain:TIGR01408,Gene3D:1y8qD02,Pfam_domain:PF02134,Superfamily_domains:SSF69572	.	.	ENSP00000338413	.	22/26	.	.	.	.	.	.	.	.	.	22/26	nonpreferredpair	ENST00000335972	Transcript	.	.	ENSG00000130985	12469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.15)	.	UBA1_HUMAN	UBA1	HGNC	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN	.	UPI0000137946	SNV	UBA1,missense_variant,p.Glu871Gly,ENST00000335972,;UBA1,missense_variant,p.Glu871Gly,ENST00000377351,;UBA1,missense_variant,p.Glu319Gly,ENST00000377269,;	2795	339	343	SUCCESS
GPR173	54328	.	GRCh37	X	53106558	53106558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	121	0	ENST00000332582.4:c.755G>A	p.Gly252Glu	p.G252E	ENST00000332582	NM_018969.5	252	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS14349.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGGCCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR19268:SF4,hmmpanther:PTHR19268,Pfam_domain:PF00001	.	.	ENSP00000331600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000332582	Transcript	.	.	ENSG00000184194	18186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	GP173_HUMAN	GPR173	HGNC	J3KPD1_HUMAN	.	UPI0000050480	SNV	GPR173,missense_variant,p.Gly252Glu,ENST00000332582,;TSPYL2,upstream_gene_variant,,ENST00000375442,;GPR173,downstream_gene_variant,,ENST00000375466,;TSPYL2,upstream_gene_variant,,ENST00000553557,;	1246	121	46	SUCCESS
PFKFB1	5207	.	GRCh37	X	54989780	54989780	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	47	144	0	ENST00000375006.3:c.133G>A	p.Val45Met	p.V45M	ENST00000375006	NM_001271804.1	45	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14364.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCACCATTG	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.300,Pfam_domain:PF01591,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF52540	.	.	ENSP00000364145	.	2/14	.	.	.	.	.	.	.	.	.	2/14	nonpreferredpair	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Val45Met,ENST00000374992,;PFKFB1,missense_variant,p.Val45Met,ENST00000375006,;PFKFB1,intron_variant,,ENST00000545676,;	204	144	153	SUCCESS
ARR3	407	.	GRCh37	X	69501565	69501565	+	synonymous_variant	Silent	SNP	C	C	T	rs1569223613	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	24	99	0	ENST00000307959.8:c.1116C>T	p.Gly372=	p.G372=	ENST00000307959	NM_004312.2	372	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14399.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGCGAGGA	NONE	.	.	hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF19,Prints_domain:PR00309	.	.	ENSP00000311538	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000307959	Transcript	.	.	ENSG00000120500	710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARRC_HUMAN	ARR3	HGNC	D6RCT3_HUMAN	.	UPI0000457850	SNV	ARR3,synonymous_variant,p.%3D,ENST00000307959,;ARR3,downstream_gene_variant,,ENST00000374495,;RAB41,upstream_gene_variant,,ENST00000374473,;RAB41,upstream_gene_variant,,ENST00000276066,;RAB41,upstream_gene_variant,,ENST00000509895,;PDZD11,downstream_gene_variant,,ENST00000239666,;	1167	99	93	SUCCESS
CHIC1	53344	.	GRCh37	X	72783227	72783227	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	7	140	0	ENST00000373502.5:c.107C>A	p.Ser36Ter	p.S36*	ENST00000373502	NM_001039840.2	36	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS35335.2	107	MUTECT|MUSE	.	GTCGTCGTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13005,hmmpanther:PTHR13005:SF2,Gene3D:1.25.10.10	.	.	ENSP00000362601	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000373502	Transcript	.	.	ENSG00000204116	1934	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHIC1_HUMAN	CHIC1	HGNC	B7Z4S5_HUMAN	.	UPI0000160F74	SNV	CHIC1,stop_gained,p.Ser36Ter,ENST00000373502,;CHIC1,stop_gained,p.Ser36Ter,ENST00000373504,;MAP2K4P1,upstream_gene_variant,,ENST00000602584,;CHIC1,stop_gained,p.Ser29Ter,ENST00000498407,;CHIC1,upstream_gene_variant,,ENST00000498318,;	184	140	113	SUCCESS
GPR174	84636	.	GRCh37	X	78426850	78426850	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	341	112	527	0	ENST00000276077.1:c.346C>G	p.Arg116Gly	p.R116G	ENST00000276077	NM_032553.1	116	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS14443.1	346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGACGATTT	CODON|p.R115Q|c.344G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24237:SF4,hmmpanther:PTHR24237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01157,Prints_domain:PR00237	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,missense_variant,p.Arg116Gly,ENST00000276077,;	382	527	453	SUCCESS
C10orf76	0	.	GRCh37	10	103609618	103609618	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199549255	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	103	0	ENST00000370033.4:c.1892C>T	p.Thr631Met	p.T631M	ENST00000370033	NM_024541.2	631	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS41563.1	1892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGTGTCA	NONE	by1000G	.	hmmpanther:PTHR13608:SF3,hmmpanther:PTHR13608,Pfam_domain:PF08427	.	.	ENSP00000359050	.	25/26	.	.	.	.	.	.	.	.	rs199549255	25/26	PASS	ENST00000370033	Transcript	.	.	ENSG00000120029	25788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CJ076_HUMAN	C10orf76	HGNC	.	.	UPI000047005B	SNV	C10orf76,missense_variant,p.Thr631Met,ENST00000370033,;C10orf76,non_coding_transcript_exon_variant,,ENST00000495001,;	2012	103	85	SUCCESS
TTC40	0	.	GRCh37	10	134742941	134742941	+	intron_variant	Intron	SNP	G	G	A	rs547496534	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	31	0	ENST00000368586.5:c.966+268C>T		p.*322*	ENST00000368586	NM_001200049.2			0	.	A:0.0008	.	A:0.0014	.	A	.	protein_coding	YES	CCDS58101.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCGTCCGT	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000357575	A:0	.	.	.	.	.	.	.	.	.	rs547496534	.	PASS	ENST00000368586	Transcript	.	A:0.0004	ENSG00000171811	25247	.	.	MODIFIER	9/57	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,3_prime_UTR_variant,,ENST00000368585,;TTC40,intron_variant,,ENST00000368582,;TTC40,intron_variant,,ENST00000368586,;	.	31	17	SUCCESS
RET	5979	.	GRCh37	10	43615627	43615627	+	synonymous_variant	Silent	SNP	G	G	A	rs1468709610	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	83	0	ENST00000355710.3:c.2706G>A	p.Glu902=	p.E902=	ENST00000355710	NM_020975.4	902	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7200.1	2706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGGATTC	BUFFER|p.D898_E901del|c.2694_2705del12|4	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000631,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000347942	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000355710	Transcript	1	.	ENSG00000165731	9967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET_HUMAN	RET	HGNC	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	.	UPI00001336E1	SNV	RET,synonymous_variant,p.%3D,ENST00000340058,;RET,synonymous_variant,p.%3D,ENST00000355710,;	2938	83	65	SUCCESS
GDF2	2658	.	GRCh37	10	48413956	48413956	+	synonymous_variant	Silent	SNP	C	C	T	rs201627211	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	122	2	ENST00000249598.1:c.912G>A	p.Thr304=	p.T304=	ENST00000249598	NM_016204.1	304	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7219.1	912	RADIA|VARSCANS	.	CCATCCGTGTC	NONE	byCluster	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127	.	.	ENSP00000249598	.	2/2	.	.	.	.	.	.	.	.	rs201627211,COSM2154761,COSM330752	2/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,synonymous_variant,p.%3D,ENST00000249598,;	1072	124	98	SUCCESS
C10orf40	0	.	GRCh37	10	61719363	61719363	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	241	69	388	0	ENST00000521074.1:c.-692C>A		p.*231*	ENST00000521074				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAAGGGTTT	NONE	.	.	.	.	.	ENSP00000430990	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000521074	Transcript	.	.	ENSG00000235931	23524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ040_HUMAN	C10orf40	HGNC	.	.	UPI00001600DA	SNV	C10orf40,5_prime_UTR_variant,,ENST00000521074,;C10orf40,5_prime_UTR_variant,,ENST00000444900,;C10orf40,upstream_gene_variant,,ENST00000430888,;	396	388	310	SUCCESS
LRRTM3	347731	.	GRCh37	10	68687250	68687250	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	68	0	ENST00000361320.4:c.576G>T	p.Arg192=	p.R192=	ENST00000361320	NM_178011.3	192	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7270.1	576	MUTECT|MUSE	.	AACCGGATCCG	BUFFER|p.R194Q|c.581G>A|3,BUFFER|p.R194Q|c.581G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,synonymous_variant,p.%3D,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	1154	68	48	SUCCESS
LRRTM3	347731	.	GRCh37	10	68687251	68687251	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	70	0	ENST00000361320.4:c.577A>T	p.Ile193Phe	p.I193F	ENST00000361320	NM_178011.3	193	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS7270.1	577	MUTECT|MUSE	.	ACCGGATCCGA	BUFFER|p.R194Q|c.581G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,missense_variant,p.Ile193Phe,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	1155	70	47	SUCCESS
DYNC2H1	79659	.	GRCh37	11	102988459	102988459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1302921684	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	61	0	ENST00000375735.2:c.866C>T	p.Ser289Leu	p.S289L	ENST00000375735	NM_001080463.1	289	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS44717.1	866	RADIA|MUTECT|MUSE	.	TATTTCAATTT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08385	.	.	ENSP00000381167	.	6/90	.	.	.	.	.	.	.	.	.	6/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Ser289Leu,ENST00000398093,;DYNC2H1,missense_variant,p.Ser289Leu,ENST00000334267,;DYNC2H1,missense_variant,p.Ser289Leu,ENST00000375735,;	866	62	77	SUCCESS
BTG4	54766	.	GRCh37	11	111367922	111367922	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	67	0	ENST00000356018.2:c.510+14C>A		p.*170*	ENST00000356018	NM_017589.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8346.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGGAACA	NONE	.	.	.	.	.	ENSP00000348300	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356018	Transcript	.	.	ENSG00000137707	13862	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTG4_HUMAN	BTG4	HGNC	E9PRM5_HUMAN	.	UPI0000126B15	SNV	BTG4,missense_variant,p.Pro175Gln,ENST00000525791,;BTG4,intron_variant,,ENST00000356018,;BTG4,downstream_gene_variant,,ENST00000456861,;	.	67	66	SUCCESS
JAM3	83700	.	GRCh37	11	134014143	134014143	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	58	0	ENST00000299106.4:c.264G>C	p.Leu88Phe	p.L88F	ENST00000299106		88	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS8494.2	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGGCGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF5,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000299106	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000299106	Transcript	.	.	ENSG00000166086	15532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.19)	.	JAM3_HUMAN	JAM3	HGNC	.	.	UPI0000034063	SNV	JAM3,missense_variant,p.Leu133Phe,ENST00000529443,;JAM3,missense_variant,p.Leu88Phe,ENST00000299106,;JAM3,missense_variant,p.Leu28Phe,ENST00000534549,;JAM3,intron_variant,,ENST00000441717,;JAM3,non_coding_transcript_exon_variant,,ENST00000524969,;JAM3,non_coding_transcript_exon_variant,,ENST00000532165,;JAM3,3_prime_UTR_variant,,ENST00000532252,;JAM3,non_coding_transcript_exon_variant,,ENST00000531302,;JAM3,upstream_gene_variant,,ENST00000533711,;	423	58	86	SUCCESS
NUP160	23279	.	GRCh37	11	47801951	47801951	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs62000434	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	85	0	ENST00000378460.2:c.4165A>G	p.Ile1389Val	p.I1389V	ENST00000378460	NM_015231.1	1389	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31484.1	4165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAATAGAGG	NONE	.	.	hmmpanther:PTHR21286	.	.	ENSP00000367721	.	35/36	.	.	.	.	.	.	.	.	rs62000434	35/36	PASS	ENST00000378460	Transcript	.	.	ENSG00000030066	18017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.464)	.	deleterious(0.04)	.	NU160_HUMAN	NUP160	HGNC	.	.	UPI0000185FEB	SNV	NUP160,missense_variant,p.Ile1389Val,ENST00000378460,;NUP160,intron_variant,,ENST00000530326,;NUP160,downstream_gene_variant,,ENST00000532773,;	4212	85	101	SUCCESS
PTPRJ	5795	.	GRCh37	11	48185171	48185171	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	52	98	0	ENST00000418331.2:c.3719+1G>T		p.X1240_splice	ENST00000418331	NM_002843.3	1240		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7945.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGTACGC	NONE	.	.	.	.	.	ENSP00000400010	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000418331	Transcript	.	.	ENSG00000149177	9673	.	.	HIGH	23/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRJ_HUMAN	PTPRJ	HGNC	Q9NPR5_HUMAN	.	UPI00004564C8	SNV	PTPRJ,splice_donor_variant,,ENST00000418331,;	.	98	97	SUCCESS
CTNND1	1500	.	GRCh37	11	57577636	57577636	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	29	0	ENST00000399050.4:c.2491G>T	p.Gly831Ter	p.G831*	ENST00000399050	NM_001085458.1	831	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS44604.1	2491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGGATAT	NONE	.	.	hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000382004	.	16/21	.	.	.	.	.	.	.	.	COSM1196379,COSM1196378	16/21	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,stop_gained,p.Gly825Ter,ENST00000361796,;CTNND1,stop_gained,p.Gly724Ter,ENST00000532787,;CTNND1,stop_gained,p.Gly771Ter,ENST00000526357,;CTNND1,stop_gained,p.Gly825Ter,ENST00000428599,;CTNND1,stop_gained,p.Gly502Ter,ENST00000533667,;CTNND1,stop_gained,p.Gly771Ter,ENST00000532649,;CTNND1,stop_gained,p.Gly730Ter,ENST00000528232,;CTNND1,stop_gained,p.Gly831Ter,ENST00000529919,;CTNND1,stop_gained,p.Gly8Ter,ENST00000531007,;CTNND1,stop_gained,p.Gly771Ter,ENST00000529873,;CTNND1,stop_gained,p.Gly777Ter,ENST00000532844,;CTNND1,stop_gained,p.Gly502Ter,ENST00000531014,;CTNND1,stop_gained,p.Gly724Ter,ENST00000532463,;CTNND1,stop_gained,p.Gly730Ter,ENST00000415361,;CTNND1,stop_gained,p.Gly724Ter,ENST00000530094,;CTNND1,stop_gained,p.Gly724Ter,ENST00000529986,;CTNND1,stop_gained,p.Gly508Ter,ENST00000527467,;CTNND1,stop_gained,p.Gly724Ter,ENST00000532245,;CTNND1,stop_gained,p.Gly777Ter,ENST00000530748,;CTNND1,stop_gained,p.Gly771Ter,ENST00000528621,;CTNND1,stop_gained,p.Gly825Ter,ENST00000361391,;CTNND1,stop_gained,p.Gly831Ter,ENST00000399050,;CTNND1,stop_gained,p.Gly771Ter,ENST00000534579,;CTNND1,stop_gained,p.Gly831Ter,ENST00000526938,;CTNND1,stop_gained,p.Gly771Ter,ENST00000529526,;CTNND1,stop_gained,p.Gly831Ter,ENST00000399039,;CTNND1,stop_gained,p.Gly831Ter,ENST00000360682,;CTNND1,stop_gained,p.Gly825Ter,ENST00000524630,;CTNND1,stop_gained,p.Gly825Ter,ENST00000358694,;CTNND1,stop_gained,p.Gly724Ter,ENST00000426142,;CTNND1,stop_gained,p.Gly502Ter,ENST00000526772,;CTNND1,stop_gained,p.Gly825Ter,ENST00000361332,;CTNND1,stop_gained,p.Gly508Ter,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000530720,;CTNND1,upstream_gene_variant,,ENST00000525821,;	3027	29	40	SUCCESS
CTNND1	1500	.	GRCh37	11	57577637	57577637	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	28	0	ENST00000399050.4:c.2492G>T	p.Gly831Val	p.G831V	ENST00000399050	NM_001085458.1	831	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44604.1	2492	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGGGATATA	NONE	.	.	hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000382004	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.613)	.	deleterious(0.02)	.	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,missense_variant,p.Gly825Val,ENST00000361796,;CTNND1,missense_variant,p.Gly724Val,ENST00000532787,;CTNND1,missense_variant,p.Gly771Val,ENST00000526357,;CTNND1,missense_variant,p.Gly825Val,ENST00000428599,;CTNND1,missense_variant,p.Gly502Val,ENST00000533667,;CTNND1,missense_variant,p.Gly771Val,ENST00000532649,;CTNND1,missense_variant,p.Gly730Val,ENST00000528232,;CTNND1,missense_variant,p.Gly831Val,ENST00000529919,;CTNND1,missense_variant,p.Gly8Val,ENST00000531007,;CTNND1,missense_variant,p.Gly771Val,ENST00000529873,;CTNND1,missense_variant,p.Gly777Val,ENST00000532844,;CTNND1,missense_variant,p.Gly502Val,ENST00000531014,;CTNND1,missense_variant,p.Gly724Val,ENST00000532463,;CTNND1,missense_variant,p.Gly730Val,ENST00000415361,;CTNND1,missense_variant,p.Gly724Val,ENST00000530094,;CTNND1,missense_variant,p.Gly724Val,ENST00000529986,;CTNND1,missense_variant,p.Gly508Val,ENST00000527467,;CTNND1,missense_variant,p.Gly724Val,ENST00000532245,;CTNND1,missense_variant,p.Gly777Val,ENST00000530748,;CTNND1,missense_variant,p.Gly771Val,ENST00000528621,;CTNND1,missense_variant,p.Gly825Val,ENST00000361391,;CTNND1,missense_variant,p.Gly831Val,ENST00000399050,;CTNND1,missense_variant,p.Gly771Val,ENST00000534579,;CTNND1,missense_variant,p.Gly831Val,ENST00000526938,;CTNND1,missense_variant,p.Gly771Val,ENST00000529526,;CTNND1,missense_variant,p.Gly831Val,ENST00000399039,;CTNND1,missense_variant,p.Gly831Val,ENST00000360682,;CTNND1,missense_variant,p.Gly825Val,ENST00000524630,;CTNND1,missense_variant,p.Gly825Val,ENST00000358694,;CTNND1,missense_variant,p.Gly724Val,ENST00000426142,;CTNND1,missense_variant,p.Gly502Val,ENST00000526772,;CTNND1,missense_variant,p.Gly825Val,ENST00000361332,;CTNND1,missense_variant,p.Gly508Val,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000530720,;CTNND1,upstream_gene_variant,,ENST00000525821,;	3028	28	39	SUCCESS
INCENP	3619	.	GRCh37	11	61912532	61912532	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1302950403	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	46	93	0	ENST00000394818.3:c.1684G>A	p.Asp562Asn	p.D562N	ENST00000394818	NM_001040694.1	562	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44624.1	1684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGACAAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142,hmmpanther:PTHR13142:SF1	.	.	ENSP00000378295	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000394818	Transcript	.	.	ENSG00000149503	6058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	INCE_HUMAN	INCENP	HGNC	E9PM67_HUMAN	.	UPI0000D7D6F3	SNV	INCENP,missense_variant,p.Asp558Asn,ENST00000278849,;INCENP,missense_variant,p.Asp562Asn,ENST00000394818,;INCENP,downstream_gene_variant,,ENST00000528375,;	1886	93	85	SUCCESS
LGALS12	85329	.	GRCh37	11	63277947	63277947	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773447125	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	44	149	0	ENST00000394618.3:c.571G>A	p.Gly191Ser	p.G191S	ENST00000394618	NM_033101.3	191	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS44633.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGGCAGC	NONE	.	.	hmmpanther:PTHR11346:SF19,hmmpanther:PTHR11346	.	.	ENSP00000339374	.	5/9	.	.	.	.	.	.	.	.	rs773447125	5/9	PASS	ENST00000340246	Transcript	.	.	ENSG00000133317	15788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.25)	.	.	LGALS12	HGNC	G5E970_HUMAN	.	UPI000014130D	SNV	LGALS12,missense_variant,p.Gly130Ser,ENST00000425950,;LGALS12,missense_variant,p.Gly191Ser,ENST00000255684,;LGALS12,missense_variant,p.Gly130Ser,ENST00000415491,;LGALS12,missense_variant,p.Gly192Ser,ENST00000340246,;LGALS12,missense_variant,p.Gly191Ser,ENST00000394618,;	604	149	215	SUCCESS
SF1	7536	.	GRCh37	11	64537468	64537468	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	46	80	0	ENST00000377390.3:c.447A>C	p.Glu149Asp	p.E149D	ENST00000377390	NM_004630.3	149	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS53661.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATTTCTGG	NONE	.	.	hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000366604	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000377387	Transcript	.	.	ENSG00000168066	12950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.19)	.	SF01_HUMAN	SF1	HGNC	Q14821_HUMAN,C9J792_HUMAN,B4DX42_HUMAN	.	UPI0000074300	SNV	SF1,missense_variant,p.Glu149Asp,ENST00000227503,;SF1,missense_variant,p.Glu149Asp,ENST00000377390,;SF1,missense_variant,p.Glu34Asp,ENST00000422298,;SF1,missense_variant,p.Glu149Asp,ENST00000377394,;SF1,missense_variant,p.Glu149Asp,ENST00000334944,;SF1,missense_variant,p.Glu274Asp,ENST00000377387,;SF1,missense_variant,p.Glu123Asp,ENST00000433274,;SF1,upstream_gene_variant,,ENST00000443908,;SF1,downstream_gene_variant,,ENST00000432725,;SF1,upstream_gene_variant,,ENST00000486867,;SF1,upstream_gene_variant,,ENST00000413725,;SF1,non_coding_transcript_exon_variant,,ENST00000496969,;SF1,upstream_gene_variant,,ENST00000489544,;SF1,3_prime_UTR_variant,,ENST00000448404,;SF1,non_coding_transcript_exon_variant,,ENST00000486960,;SF1,upstream_gene_variant,,ENST00000477596,;SF1,downstream_gene_variant,,ENST00000482693,;SF1,downstream_gene_variant,,ENST00000413951,;	899	80	99	SUCCESS
TENM4	26011	.	GRCh37	11	78380618	78380618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	15	162	0	ENST00000278550.7:c.6772G>A	p.Asp2258Asn	p.D2258N	ENST00000278550	NM_001098816.2	2258	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS44688.1	6772	MUTECT|MUSE	.	GCCATCCTCAT	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Asp2258Asn,ENST00000278550,;TENM4,missense_variant,p.Asp722Asn,ENST00000530738,;	7235	162	227	SUCCESS
TMEM52B	120939	.	GRCh37	12	10332058	10332058	+	intron_variant	Intron	SNP	G	G	A	rs550743558	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	13	0	ENST00000381923.2:c.-94-22G>A		p.*32*	ENST00000381923	NM_001079815.1			0	.	C:0.0008	.	C:0	.	A	.	protein_coding	YES	CCDS8619.1	.	MUTECT|MUSE	.	TTCCTGAGAAA	NONE	by1000G	.	.	C:0	.	ENSP00000298530	C:0	1/4	.	.	.	.	.	.	.	.	rs550743558	1/4	PASS	ENST00000298530	Transcript	.	C:0.0002	ENSG00000165685	26438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	TM52B_HUMAN	TMEM52B	HGNC	.	.	UPI000006D360	SNV	TMEM52B,5_prime_UTR_variant,,ENST00000298530,;TMEM52B,5_prime_UTR_variant,,ENST00000543484,;TMEM52B,intron_variant,,ENST00000381923,;TMEM52B,upstream_gene_variant,,ENST00000536952,;TMEM52B,downstream_gene_variant,,ENST00000545924,;	447	13	9	SUCCESS
GCN1L1	0	.	GRCh37	12	120602471	120602471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	172	0	ENST00000300648.6:c.1667G>T	p.Arg556Ile	p.R556I	ENST00000300648	NM_006836.1	556	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS41847.1	1667	MUTECT|MUSE	.	TGAGTCTATGC	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF12074,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	17/58	.	.	.	.	.	.	.	.	.	17/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.778)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Arg556Ile,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000550471,;GCN1L1,downstream_gene_variant,,ENST00000551549,;GCN1L1,upstream_gene_variant,,ENST00000547369,;	1680	172	152	SUCCESS
TMEM132D	121256	.	GRCh37	12	129559354	129559354	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	267	24	331	0	ENST00000422113.2:c.2366G>A	p.Gly789Glu	p.G789E	ENST00000422113	NM_133448.2	789	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9266.1	2366	MUTECT|MUSE|VARSCANS	.	CCGTTCCAACA	NONE	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Gly789Glu,ENST00000422113,;TMEM132D,missense_variant,p.Gly327Glu,ENST00000389441,;	2693	331	291	SUCCESS
ITGA5	3678	.	GRCh37	12	54798211	54798211	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	24	87	0	ENST00000293379.4:c.1463+3A>G		p.X488_splice	ENST00000293379	NM_002205.2	488		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8880.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATACCTG	NONE	.	.	.	.	.	ENSP00000293379	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293379	Transcript	.	.	ENSG00000161638	6141	.	.	LOW	14/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITA5_HUMAN	ITGA5	HGNC	.	.	UPI000012D9F3	SNV	ITGA5,splice_region_variant,,ENST00000293379,;ITGA5,upstream_gene_variant,,ENST00000547197,;RP11-753H16.5,intron_variant,,ENST00000552785,;RP11-753H16.3,intron_variant,,ENST00000550474,;ITGA5,splice_region_variant,,ENST00000552564,;ITGA5,non_coding_transcript_exon_variant,,ENST00000551861,;ITGA5,upstream_gene_variant,,ENST00000550141,;ITGA5,upstream_gene_variant,,ENST00000552431,;ITGA5,upstream_gene_variant,,ENST00000552387,;ITGA5,upstream_gene_variant,,ENST00000551564,;ITGA5,downstream_gene_variant,,ENST00000435631,;ITGA5,upstream_gene_variant,,ENST00000552583,;ITGA5,downstream_gene_variant,,ENST00000553071,;	.	87	107	SUCCESS
INHBE	83729	.	GRCh37	12	57849890	57849890	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	69	0	ENST00000266646.2:c.312C>T	p.Ala104=	p.A104=	ENST00000266646	NM_031479.3	104	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8939.1	312	MUTECT|MUSE	.	TCAGCCTACAG	NONE	.	.	hmmpanther:PTHR11848:SF6,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000266646	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000266646	Transcript	.	.	ENSG00000139269	24029	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INHBE_HUMAN	INHBE	HGNC	.	.	UPI000012D42C	SNV	INHBE,synonymous_variant,p.%3D,ENST00000266646,;INHBE,synonymous_variant,p.%3D,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,;GLI1,upstream_gene_variant,,ENST00000546141,;GLI1,upstream_gene_variant,,ENST00000528432,;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000543426,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,non_coding_transcript_exon_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;	528	69	86	SUCCESS
PIP4K2C	79837	.	GRCh37	12	57985226	57985226	+	synonymous_variant	Silent	SNP	C	C	T	rs1385841726	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	81	199	0	ENST00000354947.5:c.154C>T	p.Leu52=	p.L52=	ENST00000354947		52	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8946.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCTGTGG	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:2gk9B01,Superfamily_domains:SSF56104	.	.	ENSP00000347032	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000354947	Transcript	.	.	ENSG00000166908	23786	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI42C_HUMAN	PIP4K2C	HGNC	F8VU68_HUMAN	.	UPI000003F553	SNV	PIP4K2C,synonymous_variant,p.%3D,ENST00000550465,;PIP4K2C,synonymous_variant,p.%3D,ENST00000354947,;PIP4K2C,synonymous_variant,p.%3D,ENST00000422156,;PIP4K2C,synonymous_variant,p.%3D,ENST00000540759,;PIP4K2C,intron_variant,,ENST00000551772,;KIF5A,downstream_gene_variant,,ENST00000455537,;PIP4K2C,synonymous_variant,p.%3D,ENST00000550095,;PIP4K2C,intron_variant,,ENST00000550360,;	170	200	174	SUCCESS
ZNF705A	440077	.	GRCh37	12	8329947	8329947	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	82	0	ENST00000359286.4:c.671G>A	p.Gly224Glu	p.G224E	ENST00000359286	NM_001004328.2	224	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS31737.1	671	MUTECT|MUSE|VARSCANS	.	CACGGGAGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF18,hmmpanther:PTHR24381,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000352233	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359286	Transcript	.	.	ENSG00000196946	32281	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	Z705A_HUMAN	ZNF705A	HGNC	J3KPU9_HUMAN,B5MCH6_HUMAN	.	UPI000035E780	SNV	ZNF705A,missense_variant,p.Gly224Glu,ENST00000359286,;ZNF705A,intron_variant,,ENST00000398526,;ZNF705A,downstream_gene_variant,,ENST00000396570,;ZNF705A,downstream_gene_variant,,ENST00000402465,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000456135,;FAM66C,upstream_gene_variant,,ENST00000544214,;	760	82	61	SUCCESS
TFDP1	7027	.	GRCh37	13	114277525	114277525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	47	111	0	ENST00000375370.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000375370	NM_007111.4	37	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS9538.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCCACCG	NONE	.	.	hmmpanther:PTHR12548:SF4,hmmpanther:PTHR12548,PIRSF_domain:PIRSF009404	.	.	ENSP00000364519	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000375370	Transcript	.	.	ENSG00000198176	11749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	tolerated(0.07)	.	TFDP1_HUMAN	TFDP1	HGNC	Q5JSB5_HUMAN	.	UPI0000000CB6	SNV	TFDP1,missense_variant,p.Ser37Phe,ENST00000375370,;TFDP1,missense_variant,p.Ser37Phe,ENST00000453989,;TFDP1,missense_variant,p.Ser37Phe,ENST00000408980,;TFDP1,5_prime_UTR_variant,,ENST00000544902,;TFDP1,5_prime_UTR_variant,,ENST00000538138,;TFDP1,non_coding_transcript_exon_variant,,ENST00000465174,;TFDP1,non_coding_transcript_exon_variant,,ENST00000475254,;	322	111	170	SUCCESS
POU4F1	5457	.	GRCh37	13	79175687	79175687	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	59	0	ENST00000377208.5:c.1123G>A	p.Ala375Thr	p.A375T	ENST00000377208	NM_006237.3	375	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31996.1	1123	MUTECT|MUSE	.	CACGGCGAAGT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000366413	.	2/2	.	.	.	.	.	.	.	.	COSM3376591	2/2	PASS	ENST00000377208	Transcript	.	.	ENSG00000152192	9218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated(0.06)	1	PO4F1_HUMAN	POU4F1	HGNC	.	.	UPI000013DCAA	SNV	POU4F1,missense_variant,p.Ala375Thr,ENST00000377208,;RNF219-AS1,intron_variant,,ENST00000430549,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000607860,;RP11-52L5.6,downstream_gene_variant,,ENST00000607269,;	1335	59	25	SUCCESS
SLITRK1	114798	.	GRCh37	13	84454076	84454076	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	25	87	0	ENST00000377084.2:c.1567C>A	p.Gln523Lys	p.Q523K	ENST00000377084	NM_052910.2	523	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS9464.1	1567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGGATGA	NONE	.	.	hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.02)	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,missense_variant,p.Gln523Lys,ENST00000377084,;	2453	87	129	SUCCESS
RTL1	388015	.	GRCh37	14	101349498	101349498	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769924231	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	35	151	0	ENST00000534062.1:c.1628C>T	p.Ala543Val	p.A543V	ENST00000534062	NM_001134888.2	543	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS53910.1	1628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGGCAATG	NONE	.	.	.	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	rs769924231	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.722)	.	tolerated(0.07)	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,missense_variant,p.Ala543Val,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	1687	151	175	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414938	105414938	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs112406618	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	336	49	198	0	ENST00000333244.5:c.6850G>A	p.Val2284Met	p.V2284M	ENST00000333244	NM_138420.2	2284	Gtg/Atg	0	T:0.0023	T:0.0008	.	T:0.0014	.	T	V/M	protein_coding	YES	CCDS45177.1	6850	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACGCTGG	SITE|p.V2284M|c.6850G>A|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	T:0	T:0	ENSP00000353114	T:0	7/7	.	.	.	.	.	.	.	.	rs112406618,COSM953898	7/7	PASS	ENST00000333244	Transcript	.	T:0.0004	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.002)	T:0	.	0,1	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Val2284Met,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	6970	198	385	SUCCESS
KLHL33	123103	.	GRCh37	14	20898551	20898551	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781672639	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	75	0	ENST00000344581.4:c.284G>A	p.Arg95His	p.R95H	ENST00000344581	NM_001109997.2	95	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS53882.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACGGGCT	NONE	.	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875	.	.	ENSP00000341549	.	2/4	.	.	.	.	.	.	.	.	rs781672639	2/4	PASS	ENST00000344581	Transcript	.	.	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.26)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Arg95His,ENST00000344581,;	507	75	107	SUCCESS
SUPT16H	11198	.	GRCh37	14	21821900	21821902	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-	rs773988222	.	TCGA-FV-A496-01	TCGA-FV-A496-10	TCC	TCC	.	.	.	.	.	.	.	.	.	.	.	.	.	188	36	196	0	ENST00000216297.2:c.2880_2882del	p.Glu960del	p.E960del	ENST00000216297	NM_007192.3	960	gaGGAc/gac	0	.	.	.	.	.	-	ED/D	protein_coding	YES	CCDS9569.1	2880-2882	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACTGTCCTCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980	.	.	ENSP00000216297	.	24/26	.	.	.	.	.	.	.	.	rs773988222	24/26	PASS	ENST00000216297	Transcript	.	.	ENSG00000092201	11465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SP16H_HUMAN	SUPT16H	HGNC	.	.	UPI0000035D5C	deletion	SUPT16H,inframe_deletion,p.Glu960del,ENST00000216297,;RPGRIP1,downstream_gene_variant,,ENST00000400017,;RPGRIP1,downstream_gene_variant,,ENST00000382933,;RPGRIP1,downstream_gene_variant,,ENST00000557771,;RPGRIP1,downstream_gene_variant,,ENST00000307974,;RPGRIP1,downstream_gene_variant,,ENST00000555587,;RPGRIP1,downstream_gene_variant,,ENST00000206660,;RPGRIP1,downstream_gene_variant,,ENST00000556336,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000552829,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000557394,;RPGRIP1,downstream_gene_variant,,ENST00000555489,;RPGRIP1,downstream_gene_variant,,ENST00000553927,;RPGRIP1,downstream_gene_variant,,ENST00000555322,;	3219-3221	196	224	SUCCESS
CFL2	1073	.	GRCh37	14	35182517	35182517	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	58	87	0	ENST00000298159.6:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000298159	NM_138638.4	85	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9650.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGTACAAA	NONE	.	.	PROSITE_profiles:PS51263,hmmpanther:PTHR11913,hmmpanther:PTHR11913:SF15,Pfam_domain:PF00241,Gene3D:3.40.20.10,SMART_domains:SM00102,Superfamily_domains:SSF55753,Prints_domain:PR00006	.	.	ENSP00000340635	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000341223	Transcript	.	.	ENSG00000165410	1875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.03)	.	COF2_HUMAN	CFL2	HGNC	Q549N0_HUMAN	.	UPI0000001236	SNV	CFL2,missense_variant,p.Tyr85Cys,ENST00000341223,;CFL2,missense_variant,p.Tyr68Cys,ENST00000556161,;CFL2,missense_variant,p.Tyr85Cys,ENST00000298159,;CFL2,missense_variant,p.Tyr68Cys,ENST00000555765,;CFL2,intron_variant,,ENST00000422678,;CFL2,intron_variant,,ENST00000554470,;	406	87	112	SUCCESS
FSCB	84075	.	GRCh37	14	44975318	44975318	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	41	0	ENST00000340446.4:c.873C>A	p.Val291=	p.V291=	ENST00000340446	NM_032135.3	291	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9679.1	873	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGACATG	NONE	.	.	.	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,synonymous_variant,p.%3D,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	1165	41	38	SUCCESS
SIX4	51804	.	GRCh37	14	61186834	61186834	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	29	131	0	ENST00000216513.4:c.1193C>G	p.Ser398Ter	p.S398*	ENST00000216513	NM_017420.4	398	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS9749.2	1193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTGATGAC	NONE	.	.	hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22	.	.	ENSP00000216513	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,stop_gained,p.Ser390Ter,ENST00000556952,;SIX4,stop_gained,p.Ser398Ter,ENST00000216513,;SIX4,3_prime_UTR_variant,,ENST00000554079,;	1253	132	157	SUCCESS
EIF2B2	8892	.	GRCh37	14	75471535	75471535	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	43	0	ENST00000266126.5:c.529T>G	p.Phe177Val	p.F177V	ENST00000266126	NM_014239.3	177	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS9836.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTTCCTC	NONE	.	.	hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF9,Pfam_domain:PF01008,Gene3D:3.40.50.10470,Superfamily_domains:SSF100950	.	.	ENSP00000266126	.	4/8	.	.	.	.	.	.	.	.	CD067166	4/8	PASS	ENST00000266126	Transcript	.	.	ENSG00000119718	3258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious(0)	.	EI2BB_HUMAN	EIF2B2	HGNC	Q53XC2_HUMAN	.	UPI0000000CB9	SNV	EIF2B2,missense_variant,p.Phe177Val,ENST00000266126,;EIF2B2,upstream_gene_variant,,ENST00000554748,;RP11-950C14.3,non_coding_transcript_exon_variant,,ENST00000554430,;EIF2B2,missense_variant,p.Phe168Val,ENST00000553401,;EIF2B2,missense_variant,p.Phe177Val,ENST00000556028,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000553539,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000555522,;EIF2B2,upstream_gene_variant,,ENST00000556668,;	609	43	81	SUCCESS
GPATCH2L	55668	.	GRCh37	14	76640009	76640009	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	65	0	ENST00000261530.7:c.984+41A>G		p.*328*	ENST00000261530	NM_017926.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9848.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAATATTC	NONE	.	.	.	.	.	ENSP00000261530	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261530	Transcript	.	.	ENSG00000089916	20210	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPT2L_HUMAN	GPATCH2L	HGNC	G3V5D0_HUMAN	.	UPI000006FA38	SNV	GPATCH2L,missense_variant,p.Asn342Ser,ENST00000556663,;GPATCH2L,missense_variant,p.Asn342Ser,ENST00000557263,;GPATCH2L,intron_variant,,ENST00000554799,;GPATCH2L,intron_variant,,ENST00000312858,;GPATCH2L,intron_variant,,ENST00000261530,;GPATCH2L,non_coding_transcript_exon_variant,,ENST00000554125,;GPATCH2L,intron_variant,,ENST00000554375,;	.	65	72	SUCCESS
ADAL	161823	.	GRCh37	15	43643144	43643144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	198	0	ENST00000562188.1:c.778T>C	p.Cys260Arg	p.C260R	ENST00000562188		260	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS53936.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTGTTTG	NONE	.	.	Superfamily_domains:SSF51556,Pfam_domain:PF00962,Gene3D:3.20.20.140,hmmpanther:PTHR11409:SF21,hmmpanther:PTHR11409	.	.	ENSP00000413074	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000428046	Transcript	.	.	ENSG00000168803	31853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ADAL_HUMAN	ADAL	HGNC	.	.	UPI00017A77C0	SNV	ADAL,missense_variant,p.Cys260Arg,ENST00000422466,;ADAL,missense_variant,p.Cys233Arg,ENST00000428046,;ADAL,missense_variant,p.Cys260Arg,ENST00000562188,;ADAL,missense_variant,p.Cys74Arg,ENST00000566154,;ADAL,downstream_gene_variant,,ENST00000389651,;	1271	198	109	SUCCESS
USP3	9960	.	GRCh37	15	63796930	63796930	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	71	0	ENST00000380324.3:c.-9C>G		p.*3*	ENST00000380324	NM_006537.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32265.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCTCGTG	NONE	.	.	.	.	.	ENSP00000369681	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000380324	Transcript	.	.	ENSG00000140455	12626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP3_HUMAN	USP3	HGNC	Q9Y2R8_HUMAN,H0YM72_HUMAN,B4DWJ6_HUMAN	.	UPI0000071F2D	SNV	USP3,5_prime_UTR_variant,,ENST00000536001,;USP3,5_prime_UTR_variant,,ENST00000540797,;USP3,5_prime_UTR_variant,,ENST00000560070,;USP3,5_prime_UTR_variant,,ENST00000380324,;USP3,5_prime_UTR_variant,,ENST00000539772,;USP3,5_prime_UTR_variant,,ENST00000561442,;USP3,5_prime_UTR_variant,,ENST00000268049,;USP3,non_coding_transcript_exon_variant,,ENST00000561326,;USP3,5_prime_UTR_variant,,ENST00000557884,;USP3,5_prime_UTR_variant,,ENST00000559873,;USP3,5_prime_UTR_variant,,ENST00000558157,;USP3,upstream_gene_variant,,ENST00000559192,;	121	71	37	SUCCESS
COG7	91949	.	GRCh37	16	23409377	23409377	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1237019918	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	33	126	1	ENST00000307149.5:c.1877A>G	p.Tyr626Cys	p.Y626C	ENST00000307149	NM_153603.3	626	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10610.1	1877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGTACTCG	NONE	.	.	hmmpanther:PTHR21443,Pfam_domain:PF10191	.	.	ENSP00000305442	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000307149	Transcript	.	.	ENSG00000168434	18622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	COG7_HUMAN	COG7	HGNC	.	.	UPI0000127E42	SNV	COG7,missense_variant,p.Tyr626Cys,ENST00000307149,;COG7,upstream_gene_variant,,ENST00000563164,;COG7,upstream_gene_variant,,ENST00000569635,;COG7,non_coding_transcript_exon_variant,,ENST00000567821,;COG7,upstream_gene_variant,,ENST00000561854,;COG7,upstream_gene_variant,,ENST00000566364,;	2063	127	143	SUCCESS
ITGAD	3681	.	GRCh37	16	31419146	31419146	+	synonymous_variant	Silent	SNP	G	G	A	rs141660381	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	29	114	0	ENST00000389202.2:c.918G>A	p.Ala306=	p.A306=	ENST00000389202	NM_005353.2	306	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS32438.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCCTCC	NONE	byCluster	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS50234	.	A:0.0006	ENSP00000373854	.	9/30	.	.	.	.	.	.	.	.	rs141660381	9/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,synonymous_variant,p.%3D,ENST00000389202,;RP11-120K18.2,downstream_gene_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	967	114	154	SUCCESS
CDH8	1006	.	GRCh37	16	61687728	61687728	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	55	0	ENST00000577390.1:c.2184G>C	p.Arg728Ser	p.R728S	ENST00000577390	NM_001796.4	728	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS10802.1	2184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCCTTAC	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10	.	.	ENSP00000462701	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,missense_variant,p.Arg728Ser,ENST00000577390,;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	3139	55	51	SUCCESS
PDPR	55066	.	GRCh37	16	70165260	70165260	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	79	0	ENST00000288050.4:c.785C>G	p.Ala262Gly	p.A262G	ENST00000288050	NM_017990.3	262	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS45520.1	785	RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCCTGCG	NONE	.	.	hmmpanther:PTHR13847:SF146,hmmpanther:PTHR13847,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000288050	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.28)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Ala262Gly,ENST00000288050,;PDPR,missense_variant,p.Ala162Gly,ENST00000398122,;PDPR,missense_variant,p.Ala262Gly,ENST00000568530,;PDPR,upstream_gene_variant,,ENST00000562100,;PDPR,missense_variant,p.Ala262Gly,ENST00000565186,;PDPR,intron_variant,,ENST00000561920,;	1742	79	61	SUCCESS
OSGIN1	29948	.	GRCh37	16	83999421	83999421	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	46	224	0	ENST00000343939.2:c.1492G>A	p.Asp498Asn	p.D498N	ENST00000343939		498	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10939.1	1243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGATCCT	NONE	.	.	hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF15,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000355374	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361711	Transcript	.	.	ENSG00000140961	30093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.279)	.	tolerated(0.24)	.	OSGI1_HUMAN	OSGIN1	HGNC	J3KRK7_HUMAN,H3BTF9_HUMAN	.	UPI000006CF29	SNV	OSGIN1,missense_variant,p.Asp415Asn,ENST00000361711,;OSGIN1,missense_variant,p.Asp498Asn,ENST00000343939,;OSGIN1,missense_variant,p.Asp415Asn,ENST00000393306,;OSGIN1,downstream_gene_variant,,ENST00000565123,;NECAB2,upstream_gene_variant,,ENST00000305202,;	1715	224	198	SUCCESS
ZNF469	84627	.	GRCh37	16	88498400	88498400	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	48	0	ENST00000437464.1:c.4438T>C	p.Ser1480Pro	p.S1480P	ENST00000437464	NM_001127464.1	1480	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS45544.1	4438	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTATCCCCG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ser1508Pro,ENST00000565624,;ZNF469,missense_variant,p.Ser1480Pro,ENST00000437464,;	4438	48	55	SUCCESS
USP7	7874	.	GRCh37	16	9000399	9000399	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	37	0	ENST00000344836.4:c.1312C>T	p.Gln438Ter	p.Q438*	ENST00000344836	NM_003470.2	438	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS32385.1	1312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGCAAAA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF89,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000343535	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,stop_gained,p.Gln438Ter,ENST00000344836,;USP7,stop_gained,p.Gln339Ter,ENST00000563085,;USP7,stop_gained,p.Gln422Ter,ENST00000381886,;USP7,stop_gained,p.Gln339Ter,ENST00000535863,;USP7,stop_gained,p.Gln380Ter,ENST00000542333,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,upstream_gene_variant,,ENST00000567329,;USP7,upstream_gene_variant,,ENST00000570256,;	1511	37	36	SUCCESS
MYOCD	93649	.	GRCh37	17	12655884	12655884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	28	98	0	ENST00000343344.4:c.1279C>A	p.Pro427Thr	p.P427T	ENST00000343344		427	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54091.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACCCAAC	BUFFER|p.P328S|c.982C>T|3,BUFFER|p.P424S|c.1270C>T|3,BUFFER|p.P424S|c.1270C>T|3	.	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.17)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Pro427Thr,ENST00000343344,;MYOCD,missense_variant,p.Pro132Thr,ENST00000443061,;MYOCD,missense_variant,p.Pro427Thr,ENST00000425538,;AC005358.1,missense_variant,p.Pro331Thr,ENST00000609971,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	1479	98	114	SUCCESS
FLII	2314	.	GRCh37	17	18154288	18154288	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1567712265	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	21	194	0	ENST00000327031.4:c.1640A>G	p.Tyr547Cys	p.Y547C	ENST00000327031	NM_002018.3	547	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11192.1	1640	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTAGTAG	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF16,Gene3D:3.40.20.10,Pfam_domain:PF00626,SMART_domains:SM00262,Superfamily_domains:SSF55753,Prints_domain:PR00597	.	.	ENSP00000324573	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000327031	Transcript	.	.	ENSG00000177731	3750	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	FLII_HUMAN	FLII	HGNC	K7EP37_HUMAN,K7EP27_HUMAN	.	UPI0000001284	SNV	FLII,missense_variant,p.Tyr547Cys,ENST00000327031,;FLII,missense_variant,p.Tyr461Cys,ENST00000379450,;FLII,missense_variant,p.Tyr536Cys,ENST00000579294,;FLII,missense_variant,p.Tyr546Cys,ENST00000578558,;FLII,missense_variant,p.Tyr492Cys,ENST00000545457,;FLII,intron_variant,,ENST00000577485,;FLII,upstream_gene_variant,,ENST00000577398,;FLII,downstream_gene_variant,,ENST00000488932,;FLII,downstream_gene_variant,,ENST00000581349,;FLII,downstream_gene_variant,,ENST00000473425,;FLII,downstream_gene_variant,,ENST00000584444,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,non_coding_transcript_exon_variant,,ENST00000496727,;FLII,downstream_gene_variant,,ENST00000478416,;FLII,upstream_gene_variant,,ENST00000493600,;FLII,downstream_gene_variant,,ENST00000488221,;FLII,downstream_gene_variant,,ENST00000581401,;FLII,upstream_gene_variant,,ENST00000459958,;FLII,upstream_gene_variant,,ENST00000487693,;FLII,downstream_gene_variant,,ENST00000461110,;FLII,upstream_gene_variant,,ENST00000580966,;FLII,upstream_gene_variant,,ENST00000577402,;FLII,downstream_gene_variant,,ENST00000577626,;FLII,upstream_gene_variant,,ENST00000493401,;FLII,upstream_gene_variant,,ENST00000465046,;FLII,upstream_gene_variant,,ENST00000487369,;FLII,upstream_gene_variant,,ENST00000474265,;FLII,upstream_gene_variant,,ENST00000580453,;	1866	195	177	SUCCESS
GPR179	440435	.	GRCh37	17	36485933	36485933	+	synonymous_variant	Silent	SNP	G	G	A	rs769135444	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	40	139	1	ENST00000342292.4:c.3519C>T	p.Ser1173=	p.S1173=	ENST00000342292	NM_001004334.2	1173	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42308.1	3519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGCTGCC	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	rs769135444	11/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,synonymous_variant,p.%3D,ENST00000342292,;GPR179,upstream_gene_variant,,ENST00000584976,;	3540	140	168	SUCCESS
IKZF3	22806	.	GRCh37	17	37922298	37922298	+	synonymous_variant	Silent	SNP	G	G	A	rs765182589	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	122	0	ENST00000346872.3:c.1275C>T	p.Tyr425=	p.Y425=	ENST00000346872	NM_012481.4	425	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11346.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGTAAGA	NONE	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF29	.	.	ENSP00000344544	.	8/8	.	.	.	.	.	.	.	.	rs765182589,COSM397532,COSM1382885	8/8	PASS	ENST00000346872	Transcript	.	.	ENSG00000161405	13178	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	IKZF3_HUMAN	IKZF3	HGNC	B4DVV5_HUMAN	.	UPI000006E6CC	SNV	IKZF3,synonymous_variant,p.%3D,ENST00000351680,;IKZF3,synonymous_variant,p.%3D,ENST00000439167,;IKZF3,synonymous_variant,p.%3D,ENST00000535189,;IKZF3,synonymous_variant,p.%3D,ENST00000377944,;IKZF3,synonymous_variant,p.%3D,ENST00000377958,;IKZF3,synonymous_variant,p.%3D,ENST00000346872,;IKZF3,synonymous_variant,p.%3D,ENST00000467757,;IKZF3,synonymous_variant,p.%3D,ENST00000583368,;IKZF3,synonymous_variant,p.%3D,ENST00000377945,;IKZF3,synonymous_variant,p.%3D,ENST00000346243,;IKZF3,synonymous_variant,p.%3D,ENST00000377952,;IKZF3,synonymous_variant,p.%3D,ENST00000439016,;IKZF3,synonymous_variant,p.%3D,ENST00000394189,;IKZF3,synonymous_variant,p.%3D,ENST00000350532,;RP11-94L15.2,upstream_gene_variant,,ENST00000488188,;IKZF3,3_prime_UTR_variant,,ENST00000348427,;IKZF3,3_prime_UTR_variant,,ENST00000293068,;	1337	122	121	SUCCESS
ACLY	47	.	GRCh37	17	40028400	40028400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	102	0	ENST00000352035.2:c.2678G>A	p.Cys893Tyr	p.C893Y	ENST00000352035	NM_001096.2	893	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS11412.1	2678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACACATC	NONE	.	.	Superfamily_domains:SSF48256,PIRSF_domain:PIRSF036511,Pfam_domain:PF00285,Gene3D:1.10.580.10,hmmpanther:PTHR23118	.	.	ENSP00000253792	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000352035	Transcript	.	.	ENSG00000131473	115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ACLY_HUMAN	ACLY	HGNC	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN	.	UPI000013CDF3	SNV	ACLY,missense_variant,p.Cys883Tyr,ENST00000353196,;ACLY,missense_variant,p.Cys893Tyr,ENST00000590151,;ACLY,missense_variant,p.Cys893Tyr,ENST00000352035,;ACLY,missense_variant,p.Cys622Tyr,ENST00000537919,;ACLY,missense_variant,p.Cys883Tyr,ENST00000393896,;ACLY,upstream_gene_variant,,ENST00000588779,;	2809	102	101	SUCCESS
MYCBPAP	84073	.	GRCh37	17	48601116	48601116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774395843	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	49	102	0	ENST00000323776.5:c.1735G>A	p.Val579Ile	p.V579I	ENST00000323776	NM_032133.4	579	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32680.2	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGTTTTT	NONE	byFrequency	.	hmmpanther:PTHR12276:SF44,hmmpanther:PTHR12276,Pfam_domain:PF14646	.	.	ENSP00000323184	.	12/19	.	.	.	.	.	.	.	.	rs774395843	12/19	PASS	ENST00000323776	Transcript	.	.	ENSG00000136449	19677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.5)	.	MYBPP_HUMAN	MYCBPAP	HGNC	.	.	UPI0000E5A00B	SNV	MYCBPAP,missense_variant,p.Val542Ile,ENST00000436259,;MYCBPAP,missense_variant,p.Val579Ile,ENST00000323776,;MYCBPAP,missense_variant,p.Val13Ile,ENST00000488432,;MYCBPAP,downstream_gene_variant,,ENST00000452039,;MYCBPAP,downstream_gene_variant,,ENST00000468821,;MYCBPAP,missense_variant,p.Val554Ile,ENST00000437498,;MYCBPAP,upstream_gene_variant,,ENST00000485169,;MYCBPAP,downstream_gene_variant,,ENST00000470609,;MYCBPAP,downstream_gene_variant,,ENST00000459754,;	1897	102	88	SUCCESS
LUC7L3	51747	.	GRCh37	17	48823123	48823123	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753362684	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	52	0	ENST00000240304.1:c.736C>T	p.Arg246Cys	p.R246C	ENST00000240304	NM_006107.3	246	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11573.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGCGTCTA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03194,hmmpanther:PTHR12375	.	.	ENSP00000425092	.	8/10	.	.	.	.	.	.	.	.	rs753362684	8/10	PASS	ENST00000505658	Transcript	.	.	ENSG00000108848	24309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.11)	.	LC7L3_HUMAN	LUC7L3	HGNC	U3KQT3_HUMAN,D6RHH0_HUMAN	.	UPI00000736F2	SNV	LUC7L3,missense_variant,p.Arg246Cys,ENST00000240304,;LUC7L3,missense_variant,p.Arg246Cys,ENST00000393227,;LUC7L3,missense_variant,p.Arg246Cys,ENST00000505658,;LUC7L3,missense_variant,p.Arg170Cys,ENST00000544170,;LUC7L3,downstream_gene_variant,,ENST00000505619,;LUC7L3,upstream_gene_variant,,ENST00000503728,;LUC7L3,upstream_gene_variant,,ENST00000511974,;LUC7L3,upstream_gene_variant,,ENST00000513969,;LUC7L3,downstream_gene_variant,,ENST00000513025,;LUC7L3,downstream_gene_variant,,ENST00000510984,;LUC7L3,upstream_gene_variant,,ENST00000512549,;LUC7L3,missense_variant,p.Arg66Cys,ENST00000504065,;LUC7L3,3_prime_UTR_variant,,ENST00000508482,;LUC7L3,upstream_gene_variant,,ENST00000509487,;LUC7L3,downstream_gene_variant,,ENST00000507200,;LUC7L3,downstream_gene_variant,,ENST00000509335,;LUC7L3,downstream_gene_variant,,ENST00000508218,;LUC7L3,downstream_gene_variant,,ENST00000504563,;LUC7L3,downstream_gene_variant,,ENST00000511068,;LUC7L3,downstream_gene_variant,,ENST00000508045,;LUC7L3,downstream_gene_variant,,ENST00000507503,;	925	52	66	SUCCESS
EFCAB3	146779	.	GRCh37	17	60493468	60493468	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	41	102	0	ENST00000305286.3:c.1095C>T	p.Asp365=	p.D365=	ENST00000305286	NM_173503.3	365	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS45751.1	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACTCTAG	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF158	.	.	ENSP00000403932	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000450662	Transcript	.	.	ENSG00000172421	26379	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB3_HUMAN	EFCAB3	HGNC	E5RJB7_HUMAN,E5RHB1_HUMAN	.	UPI0001929531	SNV	EFCAB3,synonymous_variant,p.%3D,ENST00000450662,;EFCAB3,synonymous_variant,p.%3D,ENST00000305286,;	1322	102	175	SUCCESS
TANC2	26115	.	GRCh37	17	61315394	61315394	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	7	62	0	ENST00000424789.2:c.767A>T	p.Gln256Leu	p.Q256L	ENST00000424789	NM_025185.3	256	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45754.1	767	MUTECT|MUSE	.	AGTACAGTCTA	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.065)	.	tolerated(0.13)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Gln256Leu,ENST00000389520,;TANC2,missense_variant,p.Gln256Leu,ENST00000424789,;TANC2,missense_variant,p.Gln185Leu,ENST00000583356,;AC037445.1,intron_variant,,ENST00000581421,;	771	62	98	SUCCESS
KCNH6	81033	.	GRCh37	17	61611361	61611361	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	346	9	241	0	ENST00000583023.1:c.790C>T	p.Leu264=	p.L264=	ENST00000583023	NM_030779.3	264	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11638.1	790	MUTECT|MUSE	.	TCATCCTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	.	.	ENSP00000463533	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,synonymous_variant,p.%3D,ENST00000580652,;KCNH6,synonymous_variant,p.%3D,ENST00000581784,;KCNH6,synonymous_variant,p.%3D,ENST00000583023,;KCNH6,synonymous_variant,p.%3D,ENST00000456941,;KCNH6,synonymous_variant,p.%3D,ENST00000314672,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	801	241	356	SUCCESS
ABCA5	23461	.	GRCh37	17	67300830	67300830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	37	55	0	ENST00000392676.3:c.910T>A	p.Phe304Ile	p.F304I	ENST00000392676		304	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11685.1	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAAAAAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698	.	.	ENSP00000376443	.	7/39	.	.	.	.	.	.	.	.	.	7/39	PASS	ENST00000392676	Transcript	.	.	ENSG00000154265	35	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.576)	.	deleterious(0)	.	ABCA5_HUMAN	ABCA5	HGNC	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN	.	UPI000013DD9E	SNV	ABCA5,missense_variant,p.Phe304Ile,ENST00000392676,;ABCA5,missense_variant,p.Phe304Ile,ENST00000588877,;ABCA5,missense_variant,p.Phe304Ile,ENST00000392677,;ABCA5,missense_variant,p.Phe168Ile,ENST00000589975,;ABCA5,missense_variant,p.Phe304Ile,ENST00000593153,;ABCA5,downstream_gene_variant,,ENST00000592568,;ABCA5,downstream_gene_variant,,ENST00000593253,;ABCA5,upstream_gene_variant,,ENST00000586995,;ABCA5,downstream_gene_variant,,ENST00000587607,;	975	55	104	SUCCESS
POLR2A	5430	.	GRCh37	17	7417050	7417070	+	inframe_deletion	In_Frame_Del	DEL	CCCAGCTACAGCCCCAGCTCG	CCCAGCTACAGCCCCAGCTCG	-	rs770798456	.	TCGA-FV-A496-01	TCGA-FV-A496-10	CCCAGCTACAGCCCCAGCTCG	CCCAGCTACAGCCCCAGCTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	101	9	192	0	ENST00000322644.6:c.5481_5501del	p.Ser1828_Pro1834del	p.S1828_P1834del	ENST00000322644	NM_000937.4	1823	CCCAGCTACAGCCCCAGCTCG/-	0	.	.	.	.	.	-	PSYSPSS/-	protein_coding	YES	CCDS32548.1	5467-5487	INDELOCATOR|VARSCANI	.	AGCTCACCCAGCTACAGCCCCAGCTCGCCCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_patterns:PS00115,PROSITE_patterns:PS00115,Pfam_domain:PF05001	.	.	ENSP00000314949	.	29/29	.	.	.	.	.	.	.	.	rs770798456	29/29	PASS	ENST00000322644	Transcript	.	.	ENSG00000181222	9187	14	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPB1_HUMAN	POLR2A	HGNC	.	.	UPI0000140EB9	deletion	POLR2A,inframe_deletion,p.Ser1828_Pro1834del,ENST00000322644,;POLR2A,downstream_gene_variant,,ENST00000576553,;POLR2A,downstream_gene_variant,,ENST00000573603,;	5866-5886	192	110	SUCCESS
ST6GALNAC1	55808	.	GRCh37	17	74625422	74625422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	376	28	248	0	ENST00000156626.7:c.503G>T	p.Gly168Val	p.G168V	ENST00000156626	NM_018414.3	168	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11748.1	503	MUTECT|MUSE	.	GGCCCCCATTT	NONE	.	.	hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713	.	.	ENSP00000156626	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000156626	Transcript	.	.	ENSG00000070526	23614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.777)	.	.	.	SIA7A_HUMAN	ST6GALNAC1	HGNC	.	.	UPI0000001C00	SNV	ST6GALNAC1,missense_variant,p.Gly168Val,ENST00000156626,;ST6GALNAC1,upstream_gene_variant,,ENST00000590784,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000590878,;ST6GALNAC1,upstream_gene_variant,,ENST00000589004,;ST6GALNAC1,downstream_gene_variant,,ENST00000590915,;ST6GALNAC1,missense_variant,p.Gly168Val,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,downstream_gene_variant,,ENST00000589813,;ST6GALNAC1,upstream_gene_variant,,ENST00000585633,;ST6GALNAC1,upstream_gene_variant,,ENST00000588375,;	703	248	404	SUCCESS
CNDP1	84735	.	GRCh37	18	72226672	72226672	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147983814	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	44	0	ENST00000358821.3:c.268G>T	p.Ala90Ser	p.A90S	ENST00000358821	NM_032649.5	90	Gcc/Tcc	0	A:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS12007.1	268	MUTECT|MUSE	.	TGGGGGCCCGT	NONE	byCluster	.	hmmpanther:PTHR11014:SF58,hmmpanther:PTHR11014,Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187	.	A:0.0002	ENSP00000351682	.	3/12	.	.	.	.	.	.	.	.	rs147983814	3/12	PASS	ENST00000358821	Transcript	.	.	ENSG00000150656	20675	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0.02)	.	CNDP1_HUMAN	CNDP1	HGNC	.	.	UPI0000141054	SNV	CNDP1,missense_variant,p.Ala90Ser,ENST00000358821,;CNDP1,missense_variant,p.Ala47Ser,ENST00000582365,;RP11-231E4.3,downstream_gene_variant,,ENST00000583702,;CNDP1,non_coding_transcript_exon_variant,,ENST00000585136,;CNDP1,upstream_gene_variant,,ENST00000584316,;	496	44	42	SUCCESS
ZNF490	57474	.	GRCh37	19	12692141	12692141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	69	1	ENST00000311437.6:c.748T>A	p.Tyr250Asn	p.Y250N	ENST00000311437	NM_020714.2	250	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS12272.1	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATAGGGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF16,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000311521	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311437	Transcript	.	.	ENSG00000188033	23705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN490_HUMAN	ZNF490	HGNC	.	.	UPI0000001C6F	SNV	ZNF490,missense_variant,p.Tyr250Asn,ENST00000311437,;ZNF490,downstream_gene_variant,,ENST00000440366,;ZNF490,downstream_gene_variant,,ENST00000465656,;ZNF490,3_prime_UTR_variant,,ENST00000414906,;CTD-2192J16.20,upstream_gene_variant,,ENST00000593682,;	871	70	56	SUCCESS
DNAJB1	3337	.	GRCh37	19	14629102	14629102	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	18	22	0	ENST00000254322.2:c.60C>T	p.Ile20=	p.I20=	ENST00000254322	NM_006145.1	20	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12312.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTGATCTC	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR24077:SF207,hmmpanther:PTHR24077,Gene3D:1.10.287.110,Pfam_domain:PF00226,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	.	.	ENSP00000254322	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000254322	Transcript	1	.	ENSG00000132002	5270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJB1_HUMAN	DNAJB1	HGNC	Q6FHS4_HUMAN,M0R1D6_HUMAN,M0R128_HUMAN,M0R080_HUMAN,M0QZD0_HUMAN,M0QYT3_HUMAN,B4DX52_HUMAN	.	UPI0000000C3A	SNV	DNAJB1,synonymous_variant,p.%3D,ENST00000254322,;DNAJB1,intron_variant,,ENST00000594099,;DNAJB1,intron_variant,,ENST00000598692,;DNAJB1,intron_variant,,ENST00000596853,;DNAJB1,intron_variant,,ENST00000596075,;DNAJB1,intron_variant,,ENST00000396969,;DNAJB1,intron_variant,,ENST00000601533,;DNAJB1,intron_variant,,ENST00000595992,;DNAJB1,upstream_gene_variant,,ENST00000598235,;DNAJB1,upstream_gene_variant,,ENST00000595139,;TECR,intron_variant,,ENST00000600076,;	131	22	25	SUCCESS
NDUFA13	51079	.	GRCh37	19	19626948	19626948	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	78	161	0	ENST00000507754.4:c.-100A>C		p.*34*	ENST00000507754				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12404.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAGCCGT	NONE	.	.	.	.	.	ENSP00000423673	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000507754	Transcript	1	.	ENSG00000186010	17194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUAD_HUMAN	NDUFA13	HGNC	.	.	UPI00001699BB	SNV	NDUFA13,synonymous_variant,p.%3D,ENST00000252576,;NDUFA13,5_prime_UTR_variant,,ENST00000507754,;NDUFA13,upstream_gene_variant,,ENST00000428459,;NDUFA13,upstream_gene_variant,,ENST00000512771,;NDUFA13,upstream_gene_variant,,ENST00000503283,;CTC-260F20.3,upstream_gene_variant,,ENST00000555938,;TSSK6,upstream_gene_variant,,ENST00000585580,;YJEFN3,upstream_gene_variant,,ENST00000608404,;TSSK6,upstream_gene_variant,,ENST00000360913,;CTC-260F20.3,upstream_gene_variant,,ENST00000586674,;NDUFA13,5_prime_UTR_variant,,ENST00000502506,;NDUFA13,upstream_gene_variant,,ENST00000511584,;NDUFA13,upstream_gene_variant,,ENST00000511180,;TSSK6,upstream_gene_variant,,ENST00000602623,;NDUFA13,upstream_gene_variant,,ENST00000606722,;TSSK6,upstream_gene_variant,,ENST00000587522,;	385	161	170	SUCCESS
ZNF429	353088	.	GRCh37	19	21688527	21688527	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	40	0	ENST00000358491.4:c.-47T>C		p.*16*	ENST00000358491	NM_001001415.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42537.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATATTGGGA	NONE	.	.	.	.	.	ENSP00000351280	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000358491	Transcript	.	.	ENSG00000197013	20817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN429_HUMAN	ZNF429	HGNC	.	.	UPI000022ABC2	SNV	ZNF429,5_prime_UTR_variant,,ENST00000358491,;ZNF429,5_prime_UTR_variant,,ENST00000597078,;LINC00664,downstream_gene_variant,,ENST00000599078,;ZNF429,non_coding_transcript_exon_variant,,ENST00000597556,;ZNF429,non_coding_transcript_exon_variant,,ENST00000596126,;ZNF429,non_coding_transcript_exon_variant,,ENST00000598747,;ZNF429,non_coding_transcript_exon_variant,,ENST00000596237,;ZNF429,intron_variant,,ENST00000594022,;	162	40	53	SUCCESS
LSM14A	26065	.	GRCh37	19	34687544	34687544	+	synonymous_variant	Silent	SNP	A	A	G	rs1404420063	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	57	155	0	ENST00000433627.5:c.291A>G	p.Ser97=	p.S97=	ENST00000433627	NM_001114093.1	97	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS12435.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCACTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13586,hmmpanther:PTHR13586:SF2,Pfam_domain:PF12701	.	.	ENSP00000446271	.	3/10	.	.	.	.	.	.	.	.	COSM1630854	3/10	PASS	ENST00000544216	Transcript	.	.	ENSG00000257103	24489	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LS14A_HUMAN	LSM14A	HGNC	.	.	UPI000006E20E	SNV	LSM14A,synonymous_variant,p.%3D,ENST00000586157,;LSM14A,synonymous_variant,p.%3D,ENST00000544216,;LSM14A,synonymous_variant,p.%3D,ENST00000433627,;LSM14A,synonymous_variant,p.%3D,ENST00000540746,;LSM14A,3_prime_UTR_variant,,ENST00000589878,;	368	155	128	SUCCESS
MAG	4099	.	GRCh37	19	35800859	35800859	+	synonymous_variant	Silent	SNP	G	G	C	rs111518896	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	44	0	ENST00000392213.3:c.1314G>C	p.Pro438=	p.P438=	ENST00000392213	NM_002361.3	438	ccG/ccC	0	A:0.0005	A:0.0008	.	A:0	.	C	P	protein_coding	YES	CCDS12455.1	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGGAGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Superfamily_domains:SSF48726	A:0	A:0	ENSP00000376048	A:0	8/11	.	.	.	.	.	.	.	.	rs111518896	8/11	PASS	ENST00000392213	Transcript	.	A:0.0002	ENSG00000105695	6783	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MAG_HUMAN	MAG	HGNC	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN	.	UPI000012EB2F	SNV	MAG,synonymous_variant,p.%3D,ENST00000392213,;MAG,synonymous_variant,p.%3D,ENST00000537831,;MAG,synonymous_variant,p.%3D,ENST00000361922,;MAG,non_coding_transcript_exon_variant,,ENST00000593348,;MAG,upstream_gene_variant,,ENST00000597162,;	1473	44	23	SUCCESS
RASGRP4	115727	.	GRCh37	19	38912788	38912788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	85	0	ENST00000587738.1:c.29C>T	p.Ser10Phe	p.S10F	ENST00000587738		10	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS46068.1	29	MUTECT|MUSE	.	GGTGGGACTTC	NONE	.	.	hmmpanther:PTHR23113:SF157,hmmpanther:PTHR23113	.	.	ENSP00000465772	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.62)	.	deleterious(0)	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,missense_variant,p.Ser10Phe,ENST00000454404,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000426920,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000586305,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000293062,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000587738,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000587753,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000433821,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000589474,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000589358,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;	100	85	98	SUCCESS
CYP2A7	1549	.	GRCh37	19	41387953	41387953	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	119	240	0	ENST00000301146.4:c.163T>A	p.Cys55Ser	p.C55S	ENST00000301146	NM_000764.2	55	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12569.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACATATGT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000301146	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000301146	Transcript	.	.	ENSG00000198077	2611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.43)	.	CP2A7_HUMAN	CYP2A7	HGNC	.	.	UPI000013E6D5	SNV	CYP2A7,missense_variant,p.Cys55Ser,ENST00000291764,;CYP2A7,missense_variant,p.Cys55Ser,ENST00000301146,;CYP2A7,missense_variant,p.Cys55Ser,ENST00000594332,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,upstream_gene_variant,,ENST00000598264,;	705	240	261	SUCCESS
CABP5	56344	.	GRCh37	19	48543934	48543934	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs751526865	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	26	126	0	ENST00000293255.2:c.166C>G	p.Leu56Val	p.L56V	ENST00000293255	NM_019855.4	56	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS12709.1	166	RADIA|MUTECT|MUSE|VARSCANS	.	CATGAGATTCC	NONE	byFrequency	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF60,hmmpanther:PTHR23050,Pfam_domain:PF00036,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000293255	.	3/6	.	.	.	.	.	.	.	.	rs751526865	3/6	PASS	ENST00000293255	Transcript	.	.	ENSG00000105507	13714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	tolerated(0.41)	.	CABP5_HUMAN	CABP5	HGNC	.	.	UPI0000126D6A	SNV	CABP5,missense_variant,p.Leu56Val,ENST00000293255,;CABP5,downstream_gene_variant,,ENST00000602032,;	297	126	208	SUCCESS
PRKCG	5582	.	GRCh37	19	54407908	54407908	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	15	106	1	ENST00000263431.3:c.1676A>T	p.Asp559Val	p.D559V	ENST00000263431	NM_002739.3	559	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS12867.1	1676	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGACGAGG	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000263431	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,missense_variant,p.Asp559Val,ENST00000540413,;PRKCG,missense_variant,p.Asp559Val,ENST00000263431,;PRKCG,intron_variant,,ENST00000542049,;CACNG7,upstream_gene_variant,,ENST00000391767,;CACNG7,upstream_gene_variant,,ENST00000468076,;	1958	107	132	SUCCESS
TSEN34	79042	.	GRCh37	19	54694193	54694193	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs778937826	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	24	83	0	ENST00000302937.4:c.-113C>T		p.*38*	ENST00000302937	NM_024075.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42609.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCCACCT	NONE	.	389	.	.	.	ENSP00000379667	.	.	.	.	.	.	.	.	.	.	rs778937826	.	PASS	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,5_prime_UTR_variant,,ENST00000456872,;TSEN34,5_prime_UTR_variant,,ENST00000429671,;TSEN34,5_prime_UTR_variant,,ENST00000302937,;TSEN34,intron_variant,,ENST00000455798,;TSEN34,upstream_gene_variant,,ENST00000396383,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;TSEN34,upstream_gene_variant,,ENST00000396388,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;TSEN34,upstream_gene_variant,,ENST00000496583,;	.	83	123	SUCCESS
LILRA2	11027	.	GRCh37	19	55086870	55086870	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762258442	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	54	185	2	ENST00000251377.3:c.803G>T	p.Gly268Val	p.G268V	ENST00000251377		268	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46179.1	803	RADIA|SOMATICSNIPER|VARSCANS	.	CCCTGGTTGGC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251377	.	6/9	.	.	.	.	.	.	.	.	rs762258442	6/9	PASS	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.893)	.	tolerated(0.33)	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,missense_variant,p.Gly268Val,ENST00000251376,;LILRA2,missense_variant,p.Gly268Val,ENST00000391738,;LILRA2,missense_variant,p.Gly256Val,ENST00000391737,;LILRA2,missense_variant,p.Gly268Val,ENST00000439534,;LILRA2,missense_variant,p.Gly268Val,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	936	187	240	SUCCESS
ZNF776	284309	.	GRCh37	19	58264871	58264871	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755162710	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	77	0	ENST00000317178.5:c.373G>A	p.Asp125Asn	p.D125N	ENST00000317178	NM_173632.3	125	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGACGAT	NONE	byFrequency	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF21	.	.	ENSP00000472160	.	3/3	.	.	.	.	.	.	.	.	rs755162710	3/3	PASS	ENST00000594684	Transcript	.	.	ENSG00000269026	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0.02)	.	.	AC003006.7	Clone_based_vega_gene	M0R1X1_HUMAN	.	UPI0002A47213	SNV	AC003006.7,missense_variant,p.Asp125Asn,ENST00000594684,;ZNF776,missense_variant,p.Asp125Asn,ENST00000317178,;ZNF776,intron_variant,,ENST00000451849,;ZNF776,downstream_gene_variant,,ENST00000431353,;ZNF776,upstream_gene_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,;	540	77	94	SUCCESS
ZNF776	284309	.	GRCh37	19	58265306	58265306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	61	0	ENST00000317178.5:c.808G>A	p.Asp270Asn	p.D270N	ENST00000317178	NM_173632.3	270	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12962.2	808	RADIA|MUTECT|MUSE|VARSCANS	.	AATGTGATGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF21,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321812	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000317178	Transcript	.	.	ENSG00000152443	26765	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.484)	.	deleterious(0.02)	.	ZN776_HUMAN	ZNF776	HGNC	B2RN90_HUMAN	.	UPI000022AA12	SNV	ZNF776,missense_variant,p.Asp270Asn,ENST00000317178,;ZNF776,intron_variant,,ENST00000451849,;AC003006.7,downstream_gene_variant,,ENST00000594684,;ZNF776,downstream_gene_variant,,ENST00000431353,;ZNF776,upstream_gene_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,;	1071	61	71	SUCCESS
ZNF584	201514	.	GRCh37	19	58929119	58929119	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	28	158	1	ENST00000306910.4:c.1234G>A	p.Asp412Asn	p.D412N	ENST00000306910	NM_173548.1	412	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12979.1	1234	RADIA|MUTECT|MUSE	.	AGGAGGACAGG	NONE	.	.	.	.	.	ENSP00000306756	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000306910	Transcript	.	.	ENSG00000171574	27318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.456)	.	tolerated(0.17)	.	ZN584_HUMAN	ZNF584	HGNC	M0R0A3_HUMAN	.	UPI000007465A	SNV	ZNF584,missense_variant,p.Asp412Asn,ENST00000306910,;ZNF584,missense_variant,p.Asp367Asn,ENST00000593920,;ZNF584,3_prime_UTR_variant,,ENST00000599238,;ZNF584,downstream_gene_variant,,ENST00000596281,;ZNF584,downstream_gene_variant,,ENST00000322834,;ZNF584,downstream_gene_variant,,ENST00000598901,;CTD-2619J13.16,upstream_gene_variant,,ENST00000596296,;ZNF584,downstream_gene_variant,,ENST00000594993,;ZNF584,downstream_gene_variant,,ENST00000596921,;ZNF584,non_coding_transcript_exon_variant,,ENST00000599145,;	1757	159	228	SUCCESS
SNAPC2	6618	.	GRCh37	19	7987327	7987327	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	104	0	ENST00000221573.6:c.686-3T>G		p.X229_splice	ENST00000221573	NM_003083.3	229		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12190.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTAGAGT	NONE	.	.	.	.	.	ENSP00000221573	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000221573	Transcript	.	.	ENSG00000104976	11135	.	.	LOW	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNPC2_HUMAN	SNAPC2	HGNC	M0R1L8_HUMAN	.	UPI0000000CBC	SNV	SNAPC2,synonymous_variant,p.%3D,ENST00000595637,;SNAPC2,splice_region_variant,,ENST00000597584,;SNAPC2,splice_region_variant,,ENST00000221573,;TIMM44,downstream_gene_variant,,ENST00000595565,;TGFBR3L,downstream_gene_variant,,ENST00000565886,;TIMM44,downstream_gene_variant,,ENST00000270538,;CTXN1,downstream_gene_variant,,ENST00000318978,;CTD-3193O13.8,upstream_gene_variant,,ENST00000594308,;CTD-3193O13.1,upstream_gene_variant,,ENST00000564226,;SNAPC2,downstream_gene_variant,,ENST00000593598,;TGFBR3L,downstream_gene_variant,,ENST00000564348,;SNAPC2,downstream_gene_variant,,ENST00000595035,;TIMM44,downstream_gene_variant,,ENST00000598968,;SNAPC2,downstream_gene_variant,,ENST00000596520,;TIMM44,downstream_gene_variant,,ENST00000595831,;TGFBR3L,downstream_gene_variant,,ENST00000566166,;TIMM44,downstream_gene_variant,,ENST00000599939,;TIMM44,downstream_gene_variant,,ENST00000599650,;	.	104	66	SUCCESS
HNRNPCL1	343069	.	GRCh37	1	12908257	12908257	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	6	185	0	ENST00000317869.6:c.-115C>T		p.*39*	ENST00000317869	NM_001013631.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30591.1	.	MUTECT|MUSE	.	GGCTCGAGGCC	NONE	.	.	.	.	.	ENSP00000365370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317869	Transcript	.	.	ENSG00000179172	29295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HNRCL_HUMAN	HNRNPCL1	HGNC	.	.	UPI0000134525	SNV	HNRNPCL1,5_prime_UTR_variant,,ENST00000317869,;	112	185	178	SUCCESS
NBPF9	400818	.	GRCh37	1	144814737	144814737	+	synonymous_variant	Silent	SNP	G	G	A	rs587709831	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	14	114	0	ENST00000375552.4:c.372G>A	p.Lys124=	p.K124=	ENST00000375552	NM_001277444.1	124	aaG/aaA	0	.	T:0	.	T:0	.	A	K	protein_coding	YES	.	372	MUSE|VARSCANS	.	GAGAAGTTGCG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199	T:0	.	ENSP00000364702	T:0.001	3/15	.	.	.	.	.	.	.	.	rs587709831	3/15	PASS	ENST00000375552	Transcript	.	T:0.0002	ENSG00000168614	31991	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	.	NBPF9	HGNC	Q5TB04_HUMAN,I1VE14_HUMAN	.	UPI000059D038	SNV	NBPF9,synonymous_variant,p.%3D,ENST00000375552,;NBPF9,synonymous_variant,p.%3D,ENST00000338347,;NBPF9,synonymous_variant,p.%3D,ENST00000440491,;NBPF9,5_prime_UTR_variant,,ENST00000281815,;NBPF9,non_coding_transcript_exon_variant,,ENST00000496755,;NBPF9,non_coding_transcript_exon_variant,,ENST00000465793,;NBPF9,non_coding_transcript_exon_variant,,ENST00000491652,;NBPF9,non_coding_transcript_exon_variant,,ENST00000468645,;NBPF9,non_coding_transcript_exon_variant,,ENST00000471873,;NBPF9,non_coding_transcript_exon_variant,,ENST00000483630,;NBPF9,upstream_gene_variant,,ENST00000484811,;NBPF9,upstream_gene_variant,,ENST00000472811,;	371	114	187	SUCCESS
PIAS3	10401	.	GRCh37	1	145585532	145585532	+	synonymous_variant	Silent	SNP	T	T	G	rs782645439	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	13	0	ENST00000393045.2:c.1797T>G	p.Pro599=	p.P599=	ENST00000393045	NM_006099.3	599	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS920.2	1797	MUTECT|MUSE	.	GCCCCTGGGGG	NONE	.	.	hmmpanther:PTHR10782:SF10,hmmpanther:PTHR10782	.	.	ENSP00000376765	.	14/14	.	.	.	.	.	.	.	.	rs782645439	14/14	PASS	ENST00000393045	Transcript	.	.	ENSG00000131788	16861	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PIAS3_HUMAN	PIAS3	HGNC	Q6IAR4_HUMAN,E7ESB4_HUMAN,A4CZ08_HUMAN	.	UPI0000150636	SNV	PIAS3,synonymous_variant,p.%3D,ENST00000393045,;PIAS3,synonymous_variant,p.%3D,ENST00000369298,;NUDT17,downstream_gene_variant,,ENST00000334513,;PIAS3,downstream_gene_variant,,ENST00000369299,;NUDT17,downstream_gene_variant,,ENST00000444015,;PIAS3,non_coding_transcript_exon_variant,,ENST00000475261,;PIAS3,non_coding_transcript_exon_variant,,ENST00000472114,;NUDT17,downstream_gene_variant,,ENST00000460879,;NUDT17,downstream_gene_variant,,ENST00000477878,;NUDT17,downstream_gene_variant,,ENST00000498192,;	1887	13	8	SUCCESS
HORMAD1	84072	.	GRCh37	1	150680868	150680868	+	synonymous_variant	Silent	SNP	G	G	A	rs368484414	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	21	130	1	ENST00000361824.2:c.411C>T	p.Asn137=	p.N137=	ENST00000361824	NM_032132.4	137	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS967.1	411	RADIA|MUTECT|MUSE|VARSCANS	.	GATTCGTTGCT	BUFFER|p.N134S|c.401A>G|3	byFrequency|byCluster	.	Superfamily_domains:0040144,Gene3D:1go4B00,Pfam_domain:PF02301,hmmpanther:PTHR21518:SF4,hmmpanther:PTHR21518,PROSITE_profiles:PS50815	.	A:0.0001	ENSP00000355167	.	9/15	.	.	.	.	.	.	.	.	rs368484414	9/15	PASS	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	SNV	HORMAD1,synonymous_variant,p.%3D,ENST00000361824,;HORMAD1,synonymous_variant,p.%3D,ENST00000368993,;HORMAD1,synonymous_variant,p.%3D,ENST00000442853,;HORMAD1,synonymous_variant,p.%3D,ENST00000368987,;HORMAD1,synonymous_variant,p.%3D,ENST00000322343,;HORMAD1,synonymous_variant,p.%3D,ENST00000368995,;HORMAD1,upstream_gene_variant,,ENST00000470397,;HORMAD1,upstream_gene_variant,,ENST00000486497,;	517	131	156	SUCCESS
NUP210L	91181	.	GRCh37	1	154018769	154018769	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	8	129	0	ENST00000368559.3:c.3560C>T	p.Thr1187Ile	p.T1187I	ENST00000368559	NM_207308.2	1187	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41399.1	3560	MUTECT|MUSE	.	CCTTGGTAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	26/40	.	.	.	.	.	.	.	.	.	26/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.693)	.	deleterious(0)	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,missense_variant,p.Thr120Ile,ENST00000368553,;NUP210L,missense_variant,p.Thr1187Ile,ENST00000368559,;NUP210L,missense_variant,p.Thr1187Ile,ENST00000271854,;	3632	129	188	SUCCESS
FCRL1	115350	.	GRCh37	1	157771741	157771741	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200955967	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	31	147	0	ENST00000368176.3:c.850G>A	p.Ala284Thr	p.A284T	ENST00000368176	NM_001159398.1	284	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS1170.1	850	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCCCCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	.	ENSP00000357158	T:0.001	5/11	.	.	.	.	.	.	.	.	rs200955967,COSM1335096,COSM1335097	5/11	PASS	ENST00000368176	Transcript	.	T:0.0002	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.411)	T:0	tolerated(0.1)	0,1,1	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Ala284Thr,ENST00000368176,;FCRL1,missense_variant,p.Ala284Thr,ENST00000358292,;FCRL1,missense_variant,p.Ala284Thr,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,downstream_gene_variant,,ENST00000480310,;FCRL1,upstream_gene_variant,,ENST00000495126,;	918	147	269	SUCCESS
ATP1A4	480	.	GRCh37	1	160121863	160121863	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	34	0	ENST00000368081.4:c.33T>G	p.Ala11=	p.A11=	ENST00000368081	NM_144699.3	11	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS1197.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTCCCCA	NONE	.	.	hmmpanther:PTHR24093:SF233,hmmpanther:PTHR24093	.	.	ENSP00000357060	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,synonymous_variant,p.%3D,ENST00000368081,;ATP1A4,synonymous_variant,p.%3D,ENST00000477338,;	504	34	33	SUCCESS
CACNA1E	777	.	GRCh37	1	181700351	181700351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	68	255	0	ENST00000367573.2:c.2281C>A	p.Pro761Thr	p.P761T	ENST00000367573	NM_001205293.1	761	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS55664.1	2281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCCACGC	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	19/48	.	.	.	.	.	.	.	.	.	19/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	tolerated(0.06)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Pro368Thr,ENST00000367567,;CACNA1E,missense_variant,p.Pro712Thr,ENST00000357570,;CACNA1E,missense_variant,p.Pro761Thr,ENST00000367573,;CACNA1E,missense_variant,p.Pro761Thr,ENST00000367570,;CACNA1E,intron_variant,,ENST00000358338,;CACNA1E,intron_variant,,ENST00000360108,;CACNA1E,intron_variant,,ENST00000526775,;	2281	255	362	SUCCESS
SLC26A9	115019	.	GRCh37	1	205890933	205890933	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1358483614	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	89	1	ENST00000367135.3:c.1816C>T	p.Pro606Ser	p.P606S	ENST00000367135	NM_052934.3	606	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30989.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGCGCAT	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF17,hmmpanther:PTHR11814,TIGRFAM_domain:TIGR00815,Pfam_domain:PF01740	.	.	ENSP00000356102	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(1)	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,missense_variant,p.Pro606Ser,ENST00000367135,;SLC26A9,missense_variant,p.Pro606Ser,ENST00000340781,;SLC26A9,missense_variant,p.Pro606Ser,ENST00000367134,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;SLC26A9,downstream_gene_variant,,ENST00000461505,;	1930	90	146	SUCCESS
SLC30A10	55532	.	GRCh37	1	220089062	220089067	+	inframe_deletion	In_Frame_Del	DEL	AAGTCC	AAGTCC	-	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	AAGTCC	AAGTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	194	17	157	0	ENST00000366926.3:c.1182_1187del	p.Asp395_Leu396del	p.D395_L396del	ENST00000366926	NM_018713.2	394	aaGGACTTa/aaa	0	.	.	.	.	.	-	KDL/K	protein_coding	YES	CCDS31026.1	1182-1187	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAGTAAGTCCTTCTG	NONE	.	.	hmmpanther:PTHR11562:SF14,hmmpanther:PTHR11562	.	.	ENSP00000355893	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366926	Transcript	.	.	ENSG00000196660	25355	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNT10_HUMAN	SLC30A10	HGNC	B3KR19_HUMAN	.	UPI000040E993	deletion	SLC30A10,inframe_deletion,p.Asp150_Leu151del,ENST00000536446,;SLC30A10,inframe_deletion,p.Asp395_Leu396del,ENST00000366926,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	1344-1349	157	211	SUCCESS
TARBP1	6894	.	GRCh37	1	234536930	234536930	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	40	56	0	ENST00000040877.1:c.4068A>T	p.Leu1356=	p.L1356=	ENST00000040877	NM_005646.3	1356	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1601.1	4068	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTAGACA	NONE	.	.	PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11	.	.	ENSP00000040877	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000040877	Transcript	.	.	ENSG00000059588	11568	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TARB1_HUMAN	TARBP1	HGNC	.	.	UPI000006DB0F	SNV	TARBP1,synonymous_variant,p.%3D,ENST00000040877,;TARBP1,non_coding_transcript_exon_variant,,ENST00000481183,;TARBP1,non_coding_transcript_exon_variant,,ENST00000483404,;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000468077,;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,;TARBP1,upstream_gene_variant,,ENST00000484454,;	4068	56	69	SUCCESS
PPCS	79717	.	GRCh37	1	42922564	42922564	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372401432	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	64	0	ENST00000372561.3:c.328C>T	p.Pro110Ser	p.P110S	ENST00000372561	NM_024664.2	110	Cca/Tca	0	T:0	.	.	.	.	T	P/S	protein_coding	YES	CCDS41311.1	328	MUTECT|MUSE	.	CGGGCCCAGCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12290:SF2,hmmpanther:PTHR12290,Gene3D:3.40.50.10300,Superfamily_domains:SSF102645	.	T:0.0001	ENSP00000361642	.	1/3	.	.	.	.	.	.	.	.	rs372401432	1/3	PASS	ENST00000372561	Transcript	.	.	ENSG00000127125	25686	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.3)	.	PPCS_HUMAN	PPCS	HGNC	.	.	UPI000035B21F	SNV	PPCS,missense_variant,p.Pro110Ser,ENST00000372561,;PPCS,missense_variant,p.Pro110Ser,ENST00000372560,;PPCS,intron_variant,,ENST00000455780,;PPCS,intron_variant,,ENST00000372562,;PPCS,intron_variant,,ENST00000372556,;ZMYND12,upstream_gene_variant,,ENST00000372565,;ZMYND12,upstream_gene_variant,,ENST00000433602,;PPCS,non_coding_transcript_exon_variant,,ENST00000471420,;PPCS,non_coding_transcript_exon_variant,,ENST00000472013,;ZMYND12,upstream_gene_variant,,ENST00000461083,;PPCS,upstream_gene_variant,,ENST00000482168,;PPCS,upstream_gene_variant,,ENST00000469615,;	335	64	38	SUCCESS
AJAP1	55966	.	GRCh37	1	4772487	4772487	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753347923	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	44	0	ENST00000378190.3:c.557C>T	p.Thr186Met	p.T186M	ENST00000378190	NM_001042478.1	186	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS54.1	557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGGGGG	NONE	byFrequency	.	Pfam_domain:PF15298,hmmpanther:PTHR32422	.	.	ENSP00000367433	.	2/6	.	.	.	.	.	.	.	.	rs753347923	2/6	PASS	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,missense_variant,p.Thr186Met,ENST00000378191,;AJAP1,missense_variant,p.Thr186Met,ENST00000378190,;AJAP1,downstream_gene_variant,,ENST00000466761,;	938	44	33	SUCCESS
LRP8	7804	.	GRCh37	1	53727880	53727880	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	38	140	0	ENST00000306052.6:c.1775-1G>A		p.X592_splice	ENST00000306052	NM_004631.4	592		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS578.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCTTGGG	NONE	.	.	.	.	.	ENSP00000303634	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	HIGH	11/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,splice_acceptor_variant,,ENST00000465675,;LRP8,splice_acceptor_variant,,ENST00000371454,;LRP8,splice_acceptor_variant,,ENST00000354412,;LRP8,splice_acceptor_variant,,ENST00000306052,;LRP8,splice_acceptor_variant,,ENST00000347547,;LRP8,downstream_gene_variant,,ENST00000475501,;LRP8,splice_acceptor_variant,,ENST00000460214,;LRP8,splice_acceptor_variant,,ENST00000480045,;LRP8,splice_acceptor_variant,,ENST00000481431,;LRP8,splice_acceptor_variant,,ENST00000459674,;LRP8,upstream_gene_variant,,ENST00000529670,;	.	140	140	SUCCESS
CAMTA1	23261	.	GRCh37	1	7724692	7724692	+	synonymous_variant	Silent	SNP	G	G	T	rs567138522	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	73	106	0	ENST00000303635.7:c.2085G>T	p.Ser695=	p.S695=	ENST00000303635	NM_015215.2	695	tcG/tcT	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS30576.1	2085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCGCAGGC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	A:0	.	ENSP00000306522	A:0	9/23	.	.	.	.	.	.	.	.	rs567138522	9/23	PASS	ENST00000303635	Transcript	.	A:0.0006	ENSG00000171735	18806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0031	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,synonymous_variant,p.%3D,ENST00000303635,;CAMTA1,synonymous_variant,p.%3D,ENST00000439411,;	2292	106	105	SUCCESS
TGIF2	60436	.	GRCh37	20	35219383	35219383	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	79	0	ENST00000373872.4:c.263C>T	p.Pro88Leu	p.P88L	ENST00000373872	NM_021809.6	88	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13278.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCTAATC	NONE	.	.	hmmpanther:PTHR11850,Superfamily_domains:SSF46689	.	.	ENSP00000362981	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373874	Transcript	.	.	ENSG00000118707	15764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	TGIF2_HUMAN	TGIF2	HGNC	H0YKN5_HUMAN	.	UPI0000136CC1	SNV	TGIF2,missense_variant,p.Pro71Leu,ENST00000557885,;TGIF2,missense_variant,p.Pro88Leu,ENST00000560025,;TGIF2,missense_variant,p.Pro88Leu,ENST00000558028,;TGIF2,missense_variant,p.Pro88Leu,ENST00000373872,;TGIF2,missense_variant,p.Pro88Leu,ENST00000373874,;TGIF2,intron_variant,,ENST00000561398,;TGIF2,intron_variant,,ENST00000558465,;TGIF2-C20orf24,intron_variant,,ENST00000558530,;RP5-977B1.11,intron_variant,,ENST00000561134,;	462	79	84	SUCCESS
HSPA12B	116835	.	GRCh37	20	3728929	3728929	+	synonymous_variant	Silent	SNP	G	G	A	rs775745835	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	73	0	ENST00000254963.2:c.741G>A	p.Ser247=	p.S247=	ENST00000254963	NM_052970.4	247	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13061.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGGTATA	NONE	.	.	hmmpanther:PTHR14187:SF39,hmmpanther:PTHR14187,Gene3D:3.30.420.40,Superfamily_domains:SSF53067	.	.	ENSP00000254963	.	8/13	.	.	.	.	.	.	.	.	rs775745835	8/13	PASS	ENST00000254963	Transcript	.	.	ENSG00000132622	16193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS12B_HUMAN	HSPA12B	HGNC	Q5JX83_HUMAN,B7ZLP2_HUMAN,B4DLR4_HUMAN	.	UPI00001285E5	SNV	HSPA12B,synonymous_variant,p.%3D,ENST00000542646,;HSPA12B,synonymous_variant,p.%3D,ENST00000254963,;HSPA12B,synonymous_variant,p.%3D,ENST00000399701,;	886	73	75	SUCCESS
ZNF335	63925	.	GRCh37	20	44588920	44588920	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	9	157	0	ENST00000322927.2:c.1947C>T	p.Phe649=	p.F649=	ENST00000322927	NM_022095.3	649	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS13389.1	1947	MUTECT|MUSE	.	CATTTGAAGGG	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403,PROSITE_profiles:PS50157	.	.	ENSP00000325326	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,synonymous_variant,p.%3D,ENST00000322927,;ZNF335,synonymous_variant,p.%3D,ENST00000426788,;ZNF335,downstream_gene_variant,,ENST00000475002,;	2048	157	160	SUCCESS
UFD1L	0	.	GRCh37	22	19463069	19463069	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	22	106	0	ENST00000263202.10:c.60C>G	p.Ser20=	p.S20=	ENST00000263202	NM_005659.6	20	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS13761.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGGAGAA	NONE	.	.	hmmpanther:PTHR12555,Pfam_domain:PF03152	.	.	ENSP00000263202	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000263202	Transcript	.	.	ENSG00000070010	12520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UFD1_HUMAN	UFD1L	HGNC	Q541A5_HUMAN,C9J7C8_HUMAN,C9J6N9_HUMAN	.	UPI0000000A0D	SNV	UFD1L,synonymous_variant,p.%3D,ENST00000399523,;UFD1L,synonymous_variant,p.%3D,ENST00000263202,;UFD1L,synonymous_variant,p.%3D,ENST00000360834,;UFD1L,synonymous_variant,p.%3D,ENST00000494054,;UFD1L,synonymous_variant,p.%3D,ENST00000421968,;UFD1L,intron_variant,,ENST00000474226,;UFD1L,intron_variant,,ENST00000447868,;CDC45,upstream_gene_variant,,ENST00000438587,;CDC45,upstream_gene_variant,,ENST00000407835,;CDC45,upstream_gene_variant,,ENST00000263201,;CDC45,upstream_gene_variant,,ENST00000437685,;CDC45,upstream_gene_variant,,ENST00000455750,;CDC45,upstream_gene_variant,,ENST00000404724,;UFD1L,non_coding_transcript_exon_variant,,ENST00000484101,;CDC45,upstream_gene_variant,,ENST00000483431,;UFD1L,non_coding_transcript_exon_variant,,ENST00000489406,;UFD1L,non_coding_transcript_exon_variant,,ENST00000459854,;CDC45,upstream_gene_variant,,ENST00000487669,;CDC45,upstream_gene_variant,,ENST00000491520,;	190	106	129	SUCCESS
RFPL3	10738	.	GRCh37	22	32756294	32756294	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780270312	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	70	268	0	ENST00000249007.4:c.429C>A	p.Asp143Glu	p.D143E	ENST00000249007	NM_001098535.1	143	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS43011.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGACCTCAG	NONE	byFrequency	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,PROSITE_profiles:PS50188	.	.	ENSP00000249007	.	2/2	.	.	.	.	.	.	.	.	rs780270312	2/2	PASS	ENST00000249007	Transcript	.	.	ENSG00000128276	9980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	RFPL3_HUMAN	RFPL3	HGNC	.	.	UPI000013CC68	SNV	RFPL3,missense_variant,p.Asp143Glu,ENST00000249007,;RFPL3,missense_variant,p.Asp114Glu,ENST00000397468,;RFPL3,missense_variant,p.Asp114Glu,ENST00000382088,;RFPL3S,3_prime_UTR_variant,,ENST00000400234,;RFPL3S,3_prime_UTR_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	634	269	314	SUCCESS
FBLN1	2192	.	GRCh37	22	45939311	45939311	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775398109	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	31	0	ENST00000327858.6:c.1226G>A	p.Arg409His	p.R409H	ENST00000327858	NM_006486.2	409	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14067.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCCTGT	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000331544	.	11/17	.	.	.	.	.	.	.	.	rs775398109	11/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0.01)	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Arg447His,ENST00000402984,;FBLN1,missense_variant,p.Arg409His,ENST00000262722,;FBLN1,missense_variant,p.Arg409His,ENST00000340923,;FBLN1,missense_variant,p.Arg409His,ENST00000348697,;FBLN1,missense_variant,p.Arg409His,ENST00000327858,;FBLN1,missense_variant,p.Arg409His,ENST00000442170,;FBLN1,non_coding_transcript_exon_variant,,ENST00000476366,;FBLN1,downstream_gene_variant,,ENST00000460538,;FBLN1,downstream_gene_variant,,ENST00000437711,;	1321	31	48	SUCCESS
RGPD4	285190	.	GRCh37	2	108499260	108499260	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs570292087	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	593	152	682	0	ENST00000408999.3:c.5197C>A	p.Leu1733Ile	p.L1733I	ENST00000408999	NM_182588.2	1733	Ctt/Att	0	.	G:0	.	G:0	.	A	L/I	protein_coding	YES	CCDS46381.1	5197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTTCCT	NONE	by1000G	.	PROSITE_profiles:PS50913,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF01465,Gene3D:1uptF00,SMART_domains:SM00755	G:0	.	ENSP00000386810	G:0	22/23	.	.	.	.	.	.	.	.	rs570292087,COSM1005033	22/23	PASS	ENST00000408999	Transcript	.	G:0.0002	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.694)	G:0.001	deleterious_low_confidence(0)	0,1	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Leu1733Ile,ENST00000408999,;RGPD4,missense_variant,p.Leu1733Ile,ENST00000354986,;	5274	682	745	SUCCESS
LRP1B	53353	.	GRCh37	2	141128766	141128766	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	33	193	0	ENST00000389484.3:c.10857T>G	p.Cys3619Trp	p.C3619W	ENST00000389484	NM_018557.2	3619	tgT/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS2182.1	10857	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCACAATC	NONE	.	.	PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	70/91	.	.	.	.	.	.	.	.	.	70/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.892)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Cys3619Trp,ENST00000389484,;	11829	193	228	SUCCESS
NEB	4703	.	GRCh37	2	152466364	152466364	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752089716	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	42	156	1	ENST00000172853.10:c.11560G>C	p.Asp3854His	p.D3854H	ENST00000172853		3854	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS54407.1	12289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCGTTTT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	81/182	.	.	.	.	.	.	.	.	rs752089716,COSM1631326,COSM1631324,COSM1631325	81/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.997)	.	.	0,1,1,1	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Asp4097His,ENST00000603639,;NEB,missense_variant,p.Asp3854His,ENST00000172853,;NEB,missense_variant,p.Asp4097His,ENST00000427231,;NEB,missense_variant,p.Asp4097His,ENST00000397345,;NEB,missense_variant,p.Asp4097His,ENST00000604864,;NEB,missense_variant,p.Asp3854His,ENST00000409198,;	12492	157	194	SUCCESS
SCN9A	6335	.	GRCh37	2	167056365	167056366	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	104	42	84	0	ENST00000303354.6:c.4786_4787del	p.Leu1596SerfsTer2	p.L1596Sfs*2	ENST00000303354		1596	CTa/a	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS46441.1	4750-4751	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGCTAGAAACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	deletion	SCN9A,frameshift_variant,p.Leu1584SerfsTer2,ENST00000409672,;SCN9A,frameshift_variant,p.Leu1596SerfsTer2,ENST00000375387,;SCN9A,frameshift_variant,p.Leu1595SerfsTer2,ENST00000409435,;SCN9A,frameshift_variant,p.Leu1596SerfsTer2,ENST00000303354,;AC010127.3,intron_variant,,ENST00000447809,;	5097-5098	84	146	SUCCESS
NBEAL1	65065	.	GRCh37	2	204067444	204067444	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	6	106	0	ENST00000449802.1:c.7359A>T	p.Gly2453=	p.G2453=	ENST00000449802	NM_001114132.1	2453	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46495.1	7359	MUTECT|MUSE	.	TGTGGAATACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000399903	.	50/55	.	.	.	.	.	.	.	.	.	50/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,synonymous_variant,p.%3D,ENST00000449802,;NBEAL1,synonymous_variant,p.%3D,ENST00000414576,;	7692	106	110	SUCCESS
CCDC108	0	.	GRCh37	2	219874178	219874178	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	107	0	ENST00000341552.5:c.4457C>T	p.Ser1486Phe	p.S1486F	ENST00000341552	NM_194302.3	1486	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS2430.2	4457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGACACC	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	28/35	.	.	.	.	.	.	.	.	.	28/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,missense_variant,p.Ser1486Phe,ENST00000453220,;CCDC108,missense_variant,p.Ser1486Phe,ENST00000341552,;CCDC108,missense_variant,p.Ser1486Phe,ENST00000441968,;AC097468.4,intron_variant,,ENST00000441450,;	4541	107	83	SUCCESS
UGT1A4	54657	.	GRCh37	2	234628158	234628158	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754670633	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	77	269	0	ENST00000373409.3:c.692A>G	p.Tyr231Cys	p.Y231C	ENST00000373409	NM_007120.2	231	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33405.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTATGCAA	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926	.	.	ENSP00000362508	.	1/5	.	.	.	.	.	.	.	.	rs754670633	1/5	PASS	ENST00000373409	Transcript	.	.	ENSG00000244474	12536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	UD14_HUMAN	UGT1A4	HGNC	Q8WX88_HUMAN,Q53QD2_HUMAN,B8K2E8_HUMAN	.	UPI0000001044	SNV	UGT1A4,missense_variant,p.Tyr231Cys,ENST00000373409,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A4,missense_variant,p.Tyr231Cys,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;RPL17P11,downstream_gene_variant,,ENST00000417593,;	735	269	275	SUCCESS
ADI1	55256	.	GRCh37	2	3502749	3502749	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	23	127	1	ENST00000327435.6:c.525G>A	p.Leu175=	p.L175=	ENST00000327435	NM_018269.3	175	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1653.1	525	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCAGAAA	NONE	.	.	hmmpanther:PTHR23418,Gene3D:2.60.120.10,Superfamily_domains:SSF51182	.	.	ENSP00000333666	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000327435	Transcript	.	.	ENSG00000182551	30576	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTND_HUMAN	ADI1	HGNC	.	.	UPI000006D8C6	SNV	ADI1,synonymous_variant,p.%3D,ENST00000382093,;ADI1,synonymous_variant,p.%3D,ENST00000327435,;ADI1,synonymous_variant,p.%3D,ENST00000415131,;RP11-1293J14.1,downstream_gene_variant,,ENST00000607415,;	774	128	150	SUCCESS
XPO1	7514	.	GRCh37	2	61726908	61726908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	5	103	0	ENST00000401558.2:c.530A>T	p.Glu177Val	p.E177V	ENST00000401558	NM_003400.3	177	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS33205.1	530	MUTECT|MUSE	.	ATACTTCTTCA	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Glu177Val,ENST00000404992,;XPO1,missense_variant,p.Glu177Val,ENST00000401558,;XPO1,missense_variant,p.Glu177Val,ENST00000406957,;XPO1,missense_variant,p.Glu177Val,ENST00000451765,;XPO1,downstream_gene_variant,,ENST00000443240,;XPO1,downstream_gene_variant,,ENST00000468259,;XPO1,downstream_gene_variant,,ENST00000476585,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,3_prime_UTR_variant,,ENST00000437159,;XPO1,non_coding_transcript_exon_variant,,ENST00000489954,;XPO1,upstream_gene_variant,,ENST00000460037,;XPO1,upstream_gene_variant,,ENST00000475744,;	1258	103	105	SUCCESS
XPO1	7514	.	GRCh37	2	61726909	61726909	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	105	0	ENST00000401558.2:c.529G>A	p.Glu177Lys	p.E177K	ENST00000401558	NM_003400.3	177	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33205.1	529	MUTECT|MUSE	.	TACTTCTTCAC	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Glu177Lys,ENST00000404992,;XPO1,missense_variant,p.Glu177Lys,ENST00000401558,;XPO1,missense_variant,p.Glu177Lys,ENST00000406957,;XPO1,missense_variant,p.Glu177Lys,ENST00000451765,;XPO1,downstream_gene_variant,,ENST00000443240,;XPO1,downstream_gene_variant,,ENST00000468259,;XPO1,downstream_gene_variant,,ENST00000476585,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,3_prime_UTR_variant,,ENST00000437159,;XPO1,non_coding_transcript_exon_variant,,ENST00000489954,;XPO1,upstream_gene_variant,,ENST00000460037,;XPO1,upstream_gene_variant,,ENST00000475744,;	1257	105	106	SUCCESS
NFKBIZ	64332	.	GRCh37	3	101571988	101571988	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	81	0	ENST00000326172.5:c.618T>G	p.Asn206Lys	p.N206K	ENST00000326172	NM_031419.3	206	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS2946.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAATGAACC	NONE	.	.	hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF5	.	.	ENSP00000325663	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000326172	Transcript	.	.	ENSG00000144802	29805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious_low_confidence(0.02)	.	IKBZ_HUMAN	NFKBIZ	HGNC	C9JZ23_HUMAN,C9J5I7_HUMAN,C9J5G8_HUMAN	.	UPI000006FBB1	SNV	NFKBIZ,missense_variant,p.Asn106Lys,ENST00000491281,;NFKBIZ,missense_variant,p.Asn206Lys,ENST00000326151,;NFKBIZ,missense_variant,p.Asn106Lys,ENST00000394054,;NFKBIZ,missense_variant,p.Asn206Lys,ENST00000326172,;NFKBIZ,missense_variant,p.Asn106Lys,ENST00000483180,;NFKBIZ,upstream_gene_variant,,ENST00000477601,;NFKBIZ,downstream_gene_variant,,ENST00000461724,;NFKBIZ,upstream_gene_variant,,ENST00000495719,;NFKBIZ,downstream_gene_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;NFKBIZ,upstream_gene_variant,,ENST00000495089,;	733	81	78	SUCCESS
C3orf30	0	.	GRCh37	3	118865064	118865064	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	71	0	ENST00000295622.1:c.28G>C	p.Ala10Pro	p.A10P	ENST00000295622	NM_152539.2	10	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS2984.1	28	MUTECT|MUSE	.	CTCTGGCTGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000295622	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295622	Transcript	.	.	ENSG00000163424	26553	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.18)	.	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,missense_variant,p.Ala10Pro,ENST00000295622,;IGSF11,upstream_gene_variant,,ENST00000425327,;C3orf30,upstream_gene_variant,,ENST00000492792,;RP11-484M3.5,upstream_gene_variant,,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000354673,;C3orf30,upstream_gene_variant,,ENST00000460150,;C3orf30,upstream_gene_variant,,ENST00000473121,;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Ala10Pro,ENST00000494105,;	68	71	72	SUCCESS
COL6A5	256076	.	GRCh37	3	130145236	130145236	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs202221090	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	345	11	295	0	ENST00000312481.7:c.5225G>A	p.Arg1742Gln	p.R1742Q	ENST00000312481		1742	cGg/cAg	0	A:0	A:0	.	A:0	.	A	R/Q	protein_coding	YES	.	5225	MUTECT|MUSE	.	TTTGCGGGAAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992	A:0.003	A:0.0006	ENSP00000265379	A:0	31/42	.	.	.	.	.	.	.	.	rs202221090	31/42	PASS	ENST00000265379	Transcript	.	A:0.0006	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.124)	A:0	tolerated(0.08)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Arg1742Gln,ENST00000432398,;COL6A5,missense_variant,p.Arg1742Gln,ENST00000265379,;COL6A5,missense_variant,p.Arg1742Gln,ENST00000312481,;	5719	295	356	SUCCESS
ECE2	9718	.	GRCh37	3	184008634	184008634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	6	163	0	ENST00000402825.3:c.2174C>A	p.Ala725Asp	p.A725D	ENST00000402825	NM_014693.3	725	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS3256.2	2174	MUTECT|MUSE	.	GCATGCCTTTG	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Gene3D:3.40.390.10,Pfam_domain:PF01431,Superfamily_domains:SSF55486,Prints_domain:PR00786	.	.	ENSP00000384223	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	SNV	ECE2,missense_variant,p.Ala599Asp,ENST00000430587,;ECE2,missense_variant,p.Ala578Asp,ENST00000359140,;ECE2,missense_variant,p.Ala653Asp,ENST00000357474,;ECE2,missense_variant,p.Ala607Asp,ENST00000404464,;ECE2,missense_variant,p.Ala725Asp,ENST00000402825,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,non_coding_transcript_exon_variant,,ENST00000488401,;ECE2,non_coding_transcript_exon_variant,,ENST00000490579,;	2174	163	124	SUCCESS
VPS8	23355	.	GRCh37	3	184711798	184711798	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	137	0	ENST00000437079.3:c.3613G>C	p.Gly1205Arg	p.G1205R	ENST00000437079	NM_001009921.2	1205	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS46971.1	3613	MUTECT|MUSE	.	AACTTGGAGAA	NONE	.	.	hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19	.	.	ENSP00000397879	.	43/48	.	.	.	.	.	.	.	.	.	43/48	PASS	ENST00000437079	Transcript	.	.	ENSG00000156931	29122	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	VPS8_HUMAN	VPS8	HGNC	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN	.	UPI0000160BDC	SNV	VPS8,missense_variant,p.Gly1113Arg,ENST00000446204,;VPS8,missense_variant,p.Gly1203Arg,ENST00000436792,;VPS8,missense_variant,p.Gly1205Arg,ENST00000437079,;VPS8,missense_variant,p.Gly1205Arg,ENST00000287546,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,non_coding_transcript_exon_variant,,ENST00000488255,;	3784	137	96	SUCCESS
CACNA1D	776	.	GRCh37	3	53845180	53845180	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	11	177	0	ENST00000350061.5:c.6233C>T	p.Pro2078Leu	p.P2078L	ENST00000350061	NM_001128840.2	2078	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2872.1	6293	MUTECT|MUSE	.	GGACCCAAAAT	NONE	.	.	.	.	.	ENSP00000288139	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,missense_variant,p.Pro2098Leu,ENST00000288139,;CACNA1D,missense_variant,p.Pro2054Leu,ENST00000422281,;CACNA1D,missense_variant,p.Pro2078Leu,ENST00000350061,;CACNA1D,missense_variant,p.Pro1771Leu,ENST00000481478,;CACNA1D,3_prime_UTR_variant,,ENST00000544977,;CHDH,downstream_gene_variant,,ENST00000315251,;	6411	177	181	SUCCESS
ROBO2	6092	.	GRCh37	3	77656991	77656991	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs746256476	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	70	0	ENST00000461745.1:c.3179A>C	p.Lys1060Thr	p.K1060T	ENST00000461745	NM_002942.4	1060	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS54609.1	3227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAAACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489	.	.	ENSP00000417335	.	22/27	.	.	.	.	.	.	.	.	rs746256476	22/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.05)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Lys177Thr,ENST00000471893,;ROBO2,missense_variant,p.Lys1076Thr,ENST00000487694,;ROBO2,missense_variant,p.Lys1060Thr,ENST00000332191,;ROBO2,missense_variant,p.Lys1060Thr,ENST00000461745,;ROBO2,missense_variant,p.Lys217Thr,ENST00000490991,;ROBO2,downstream_gene_variant,,ENST00000602589,;ROBO2,non_coding_transcript_exon_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	3506	70	71	SUCCESS
ANK2	287	.	GRCh37	4	114274746	114274746	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	70	0	ENST00000357077.4:c.4972G>C	p.Val1658Leu	p.V1658L	ENST00000357077	NM_001148.4	1658	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS3702.1	4972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGTTCAA	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Val1625Leu,ENST00000264366,;ANK2,missense_variant,p.Val1571Leu,ENST00000503423,;ANK2,missense_variant,p.Val1658Leu,ENST00000357077,;ANK2,missense_variant,p.Val1673Leu,ENST00000504454,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	5025	70	48	SUCCESS
TKTL2	84076	.	GRCh37	4	164394922	164394922	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1200474157	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	22	89	0	ENST00000280605.3:c.-36C>T		p.*12*	ENST00000280605	NM_032136.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3805.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGCAGCA	NONE	.	.	.	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,5_prime_UTR_variant,,ENST00000280605,;	126	89	32	SUCCESS
WDR17	116966	.	GRCh37	4	177069402	177069402	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	151	0	ENST00000280190.4:c.1885A>G	p.Ser629Gly	p.S629G	ENST00000280190		629	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS3825.1	1885	MUTECT|MUSE	.	CTGGCAGCTGG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998,Prints_domain:PR00320	.	.	ENSP00000280190	.	14/31	.	.	.	.	.	.	.	.	.	14/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Ser612Gly,ENST00000507824,;WDR17,missense_variant,p.Ser629Gly,ENST00000280190,;WDR17,missense_variant,p.Ser605Gly,ENST00000508596,;WDR17,missense_variant,p.Ser605Gly,ENST00000393643,;WDR17,upstream_gene_variant,,ENST00000443118,;	2041	151	61	SUCCESS
BEND4	389206	.	GRCh37	4	42145862	42145862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	69	247	0	ENST00000502486.1:c.637G>A	p.Glu213Lys	p.E213K	ENST00000502486	NM_207406.3	213	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47048.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTCCTGTC	BUFFER|p.N209N|c.627C>T|3	.	.	.	.	.	ENSP00000421169	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated_low_confidence(0.17)	.	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,missense_variant,p.Glu209Lys,ENST00000504360,;BEND4,missense_variant,p.Glu213Lys,ENST00000502486,;	1217	247	260	SUCCESS
ZNF721	170960	.	GRCh37	4	438107	438107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	122	0	ENST00000338977.5:c.113G>T	p.Arg38Met	p.R38M	ENST00000338977		38	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS46991.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCTTAAT	NONE	.	.	hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16	.	.	ENSP00000428878	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000511833	Transcript	.	.	ENSG00000182903	29425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	tolerated(0.09)	.	ZN721_HUMAN	ZNF721	HGNC	.	.	UPI0000E9B4A9	SNV	ZNF721,missense_variant,p.Arg82Met,ENST00000505900,;ZNF721,missense_variant,p.Arg38Met,ENST00000338977,;ZNF721,missense_variant,p.Arg50Met,ENST00000511833,;ZNF721,intron_variant,,ENST00000506646,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000514396,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ZNF721,intron_variant,,ENST00000515578,;	343	123	121	SUCCESS
ALB	213	.	GRCh37	4	74276072	74276073	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	129	37	129	0	ENST00000295897.4:c.662_663del	p.Arg221ThrfsTer30	p.R221Tfs*30	ENST00000295897	NM_000477.5	220	cAG/c	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS3555.1	659-660	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAACAGAGACT	BUFFER|p.S216L|c.647C>T|3	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520	.	.	ENSP00000295897	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Arg221ThrfsTer30,ENST00000509063,;ALB,frameshift_variant,p.Arg66ThrfsTer30,ENST00000511370,;ALB,frameshift_variant,p.Arg221ThrfsTer30,ENST00000295897,;ALB,frameshift_variant,p.Arg71ThrfsTer30,ENST00000503124,;ALB,frameshift_variant,p.Arg106ThrfsTer30,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,frameshift_variant,p.Asp87LeufsTer389,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	748-749	129	166	SUCCESS
FRAS1	80144	.	GRCh37	4	79398969	79398969	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	100	181	0	ENST00000264895.6:c.7852G>A	p.Val2618Ile	p.V2618I	ENST00000264895	NM_025074.6	2618	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS54771.1	7852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGTCCAG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000264895	.	55/74	.	.	.	.	.	.	.	.	.	55/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Val847Ile,ENST00000512123,;FRAS1,missense_variant,p.Val2618Ile,ENST00000264895,;	8292	181	189	SUCCESS
MEPE	56955	.	GRCh37	4	88766214	88766214	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	35	1	ENST00000361056.3:c.194T>C	p.Val65Ala	p.V65A	ENST00000361056	NM_020203.3	65	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3625.1	194	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTCCAGG	NONE	.	.	hmmpanther:PTHR16510	.	.	ENSP00000416984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000424957	Transcript	.	.	ENSG00000152595	13361	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.37)	.	MEPE_HUMAN	MEPE	HGNC	.	.	UPI000003B034	SNV	MEPE,missense_variant,p.Val41Ala,ENST00000497649,;MEPE,missense_variant,p.Val65Ala,ENST00000424957,;MEPE,missense_variant,p.Val65Ala,ENST00000361056,;MEPE,missense_variant,p.Val96Ala,ENST00000395102,;MEPE,3_prime_UTR_variant,,ENST00000511670,;MEPE,5_prime_UTR_variant,,ENST00000540395,;MEPE,5_prime_UTR_variant,,ENST00000560249,;MEPE,non_coding_transcript_exon_variant,,ENST00000515821,;MEPE,non_coding_transcript_exon_variant,,ENST00000508016,;	267	36	27	SUCCESS
GPRIN3	285513	.	GRCh37	4	90170573	90170573	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	56	0	ENST00000333209.4:c.689C>A	p.Ser230Tyr	p.S230Y	ENST00000333209		230	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34030.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGAGTCA	NONE	.	.	hmmpanther:PTHR15718:SF2,hmmpanther:PTHR15718	.	.	ENSP00000476603	.	2/2	.	.	.	.	.	.	.	.	COSM3606974	2/2	PASS	ENST00000609438	Transcript	.	.	ENSG00000185477	27733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.759)	.	deleterious(0.01)	1	.	GPRIN3	HGNC	.	.	UPI00001C1E20	SNV	GPRIN3,missense_variant,p.Ser230Tyr,ENST00000609438,;GPRIN3,missense_variant,p.Ser230Tyr,ENST00000333209,;	1208	56	57	SUCCESS
FBN2	2201	.	GRCh37	5	127705012	127705012	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745451975	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	61	0	ENST00000262464.4:c.2111G>T	p.Ser704Ile	p.S704I	ENST00000262464	NM_001999.3	704	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS34222.1	2111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTACTGCGC	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	22/71	.	.	.	.	.	.	.	.	rs745451975	22/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Ser704Ile,ENST00000262464,;FBN2,missense_variant,p.Ser704Ile,ENST00000508053,;FBN2,missense_variant,p.Ser671Ile,ENST00000508989,;Y_RNA,downstream_gene_variant,,ENST00000384560,;FBN2,non_coding_transcript_exon_variant,,ENST00000511489,;	3086	61	42	SUCCESS
FCHSD1	89848	.	GRCh37	5	141026047	141026047	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	15	0	ENST00000435817.2:c.1044+123A>C		p.*348*	ENST00000435817	NM_033449.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47295.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTTAAAA	NONE	.	.	.	.	.	ENSP00000399259	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435817	Transcript	.	.	ENSG00000197948	25463	.	.	MODIFIER	11/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCSD1_HUMAN	FCHSD1	HGNC	.	.	UPI000000D903	SNV	FCHSD1,intron_variant,,ENST00000522783,;FCHSD1,intron_variant,,ENST00000435817,;FCHSD1,intron_variant,,ENST00000522126,;FCHSD1,downstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000518499,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;FCHSD1,downstream_gene_variant,,ENST00000522763,;FCHSD1,downstream_gene_variant,,ENST00000522386,;FCHSD1,upstream_gene_variant,,ENST00000518160,;FCHSD1,upstream_gene_variant,,ENST00000520747,;	.	15	18	SUCCESS
EBF1	1879	.	GRCh37	5	158139190	158139190	+	synonymous_variant	Silent	SNP	G	G	A	rs763968946	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	107	0	ENST00000313708.6:c.1521C>T	p.Asn507=	p.N507=	ENST00000313708	NM_024007.3	507	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4343.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGTTGAG	NONE	byFrequency	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	14/16	.	.	.	.	.	.	.	.	rs763968946	14/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,synonymous_variant,p.%3D,ENST00000380654,;EBF1,synonymous_variant,p.%3D,ENST00000313708,;EBF1,intron_variant,,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,upstream_gene_variant,,ENST00000518323,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	1804	107	77	SUCCESS
SDHA	6389	.	GRCh37	5	223682	223682	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs369321221	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	69	326	0	ENST00000264932.6:c.149C>T	p.Ser50Phe	p.S50F	ENST00000264932	NM_004168.2	50	tCc/tTc	0	A:0.0002	.	.	.	.	T	S/F	protein_coding	YES	CCDS3853.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCCGTAA	NONE	byCluster	.	hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF37,Gene3D:3.50.50.60	.	A:0	ENSP00000264932	.	2/15	.	.	.	.	.	.	.	.	rs369321221	2/15	PASS	ENST00000264932	Transcript	1	.	ENSG00000073578	10680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.49)	.	DHSA_HUMAN	SDHA	HGNC	Q0QF12_HUMAN,B3KT34_HUMAN	.	UPI0000000C2C	SNV	SDHA,missense_variant,p.Ser50Phe,ENST00000264932,;SDHA,missense_variant,p.Ser50Phe,ENST00000504309,;SDHA,missense_variant,p.Ser50Phe,ENST00000510361,;SDHA,upstream_gene_variant,,ENST00000514233,;SDHA,missense_variant,p.Pro83Ser,ENST00000509632,;SDHA,splice_region_variant,,ENST00000502379,;SDHA,splice_region_variant,,ENST00000504824,;SDHA,splice_region_variant,,ENST00000505555,;SDHA,upstream_gene_variant,,ENST00000514027,;SDHA,upstream_gene_variant,,ENST00000509420,;	264	326	307	SUCCESS
DIMT1	27292	.	GRCh37	5	61690415	61690415	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	41	208	1	ENST00000199320.4:c.466C>G	p.Gln156Glu	p.Q156E	ENST00000199320	NM_014473.2	156	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS3981.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTGAAACA	NONE	.	.	PROSITE_profiles:PS51689,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Gene3D:3.40.50.150,Pfam_domain:PF00398,SMART_domains:SM00650,Superfamily_domains:SSF53335	.	.	ENSP00000199320	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000199320	Transcript	.	.	ENSG00000086189	30217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.748)	.	deleterious(0)	.	DIM1_HUMAN	DIMT1	HGNC	B4DRY2_HUMAN	.	UPI00001293E2	SNV	DIMT1,missense_variant,p.Gln156Glu,ENST00000199320,;DIMT1,missense_variant,p.Gln156Glu,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,3_prime_UTR_variant,,ENST00000514911,;DIMT1,non_coding_transcript_exon_variant,,ENST00000509182,;DIMT1,upstream_gene_variant,,ENST00000514605,;	627	209	216	SUCCESS
BVES-AS1	154442	.	GRCh37	6	105585661	105585661	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	54	0	ENST00000369122.3:n.100C>T		p.*34*	ENST00000369122				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5051.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGAAACTAGCA	NONE	.	612	.	.	.	ENSP00000313172	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,upstream_gene_variant,,ENST00000336775,;BVES,upstream_gene_variant,,ENST00000446408,;BVES,upstream_gene_variant,,ENST00000314641,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000580511,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000369122,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000580854,;BVES-AS1,upstream_gene_variant,,ENST00000369120,;	.	54	57	SUCCESS
TIAM2	26230	.	GRCh37	6	155504406	155504406	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs76467763	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	95	0	ENST00000318981.5:c.2836G>T	p.Gly946Trp	p.G946W	ENST00000318981	NM_012454.3	946	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS34558.1	2836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATGGGGAA	NONE	byCluster	.	PROSITE_profiles:PS50106,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000437188	.	16/29	.	.	.	.	.	.	.	.	rs76467763	16/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Gly946Trp,ENST00000461783,;TIAM2,missense_variant,p.Gly946Trp,ENST00000318981,;TIAM2,missense_variant,p.Gly282Trp,ENST00000528391,;TIAM2,missense_variant,p.Gly946Trp,ENST00000528535,;TIAM2,missense_variant,p.Gly946Trp,ENST00000456144,;TIAM2,missense_variant,p.Gly322Trp,ENST00000367174,;TIAM2,missense_variant,p.Gly946Trp,ENST00000529824,;TIAM2,missense_variant,p.Gly970Trp,ENST00000360366,;TIAM2,missense_variant,p.Gly258Trp,ENST00000456877,;TIAM2,upstream_gene_variant,,ENST00000543712,;	4109	95	103	SUCCESS
TMEM181	57583	.	GRCh37	6	159029441	159029441	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	128	331	0	ENST00000367090.3:c.1161C>T	p.Phe387=	p.F387=	ENST00000367090	NM_020823.1	387	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS43520.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31918,hmmpanther:PTHR31918:SF1,Pfam_domain:PF06664	.	.	ENSP00000356057	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000367090	Transcript	.	.	ENSG00000146433	20958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM181_HUMAN	TMEM181	HGNC	.	.	UPI00001C1E40	SNV	TMEM181,synonymous_variant,p.%3D,ENST00000367090,;TATDN2P2,downstream_gene_variant,,ENST00000403590,;	1172	331	286	SUCCESS
SCGN	10590	.	GRCh37	6	25652581	25652581	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs369887092	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	24	0	ENST00000377961.2:c.-51A>G		p.*17*	ENST00000377961	NM_006998.3			0	G:0.0002	.	.	.	.	G	.	protein_coding	YES	CCDS4561.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAAAGTT	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000367197	.	1/11	.	.	.	.	.	.	.	.	rs369887092	1/11	PASS	ENST00000377961	Transcript	.	.	ENSG00000079689	16941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEGN_HUMAN	SCGN	HGNC	.	.	UPI000013580E	SNV	SCGN,5_prime_UTR_variant,,ENST00000377961,;SCGN,upstream_gene_variant,,ENST00000334979,;	118	24	29	SUCCESS
VWA7	80737	.	GRCh37	6	31742377	31742377	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753769243	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	39	0	ENST00000375688.4:c.637G>A	p.Glu213Lys	p.E213K	ENST00000375688		213	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4721.2	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGCAAT	NONE	byFrequency	.	hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	.	.	ENSP00000364840	.	5/17	.	.	.	.	.	.	.	.	rs753769243	5/17	PASS	ENST00000375688	Transcript	.	.	ENSG00000204396	13939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.3)	.	VWA7_HUMAN	VWA7	HGNC	.	.	UPI0000E5AD19	SNV	VWA7,missense_variant,p.Glu213Lys,ENST00000447450,;VWA7,missense_variant,p.Glu213Lys,ENST00000375688,;VWA7,missense_variant,p.Glu213Lys,ENST00000375686,;VARS,downstream_gene_variant,,ENST00000375663,;Y_RNA,downstream_gene_variant,,ENST00000364685,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,upstream_gene_variant,,ENST00000487013,;VWA7,downstream_gene_variant,,ENST00000497645,;VARS,downstream_gene_variant,,ENST00000470953,;VARS,downstream_gene_variant,,ENST00000463184,;	838	39	50	SUCCESS
PEX6	5190	.	GRCh37	6	42932089	42932089	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	113	0	ENST00000304611.8:c.2927A>C	p.Lys976Thr	p.K976T	ENST00000304611	NM_000287.3	976	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS4877.1	2927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTTGCGC	NONE	.	.	hmmpanther:PTHR23077:SF9,hmmpanther:PTHR23077	.	.	ENSP00000303511	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000304611	Transcript	.	.	ENSG00000124587	8859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	deleterious(0.01)	.	PEX6_HUMAN	PEX6	HGNC	.	.	UPI00001316EC	SNV	PEX6,missense_variant,p.Lys976Thr,ENST00000304611,;PEX6,3_prime_UTR_variant,,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,;	2997	113	95	SUCCESS
KLHDC3	116138	.	GRCh37	6	42986679	42986679	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	80	0	ENST00000326974.4:c.899G>T	p.Gly300Val	p.G300V	ENST00000326974	NM_057161.3	300	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4880.1	899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGTGACA	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF287,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000313995	.	8/11	.	.	.	.	.	.	.	.	COSM3928472	8/11	PASS	ENST00000326974	Transcript	.	.	ENSG00000124702	20704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.238)	.	deleterious(0.01)	1	KLDC3_HUMAN	KLHDC3	HGNC	.	.	UPI0000036176	SNV	KLHDC3,missense_variant,p.Gly241Val,ENST00000332245,;KLHDC3,missense_variant,p.Gly300Val,ENST00000326974,;KLHDC3,missense_variant,p.Gly166Val,ENST00000244670,;MEA1,upstream_gene_variant,,ENST00000244711,;RRP36,upstream_gene_variant,,ENST00000244496,;	1094	80	67	SUCCESS
DEFB110	245913	.	GRCh37	6	49989618	49989618	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	40	0	ENST00000371148.2:c.31C>A	p.His11Asn	p.H11N	ENST00000371148	NM_001037497.1	11	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS34475.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTGCAGAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15001:SF10,hmmpanther:PTHR15001	.	.	ENSP00000360190	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000371148	Transcript	.	.	ENSG00000203970	18091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	DB110_HUMAN	DEFB110	HGNC	.	.	UPI00005E4A70	SNV	DEFB110,missense_variant,p.His11Asn,ENST00000371148,;DEFB110,missense_variant,p.His11Asn,ENST00000393660,;	77	40	44	SUCCESS
C6ORF165	0	.	GRCh37	6	88128105	88128105	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140570931	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	80	0	ENST00000369562.4:c.811C>A	p.Gln271Lys	p.Q271K	ENST00000369562	NM_001031743.2	271	Caa/Aaa	0	T:0	.	.	.	.	A	Q/K	protein_coding	YES	CCDS34498.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGACAATAT	NONE	.	.	Pfam_domain:PF12018,hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	.	T:0.0001	ENSP00000358575	.	7/13	.	.	.	.	.	.	.	.	rs140570931	7/13	PASS	ENST00000369562	Transcript	.	.	ENSG00000272514	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	C6ORF165	Uniprot_gn	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN	.	UPI00001A3AA5	SNV	C6ORF165,missense_variant,p.Gln271Lys,ENST00000369562,;C6ORF165,downstream_gene_variant,,ENST00000480123,;C6orf165,missense_variant,p.Gln271Lys,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;	923	80	92	SUCCESS
UFL1	23376	.	GRCh37	6	96997391	96997391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760506200	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	99	0	ENST00000369278.4:c.1624G>A	p.Glu542Lys	p.E542K	ENST00000369278	NM_015323.4	542	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5034.1	1624	MUTECT|MUSE	.	TGCAAGAAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0	.	.	ENSP00000358283	.	14/19	.	.	.	.	.	.	.	.	rs760506200	14/19	PASS	ENST00000369278	Transcript	.	.	ENSG00000014123	23039	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.721)	.	deleterious(0.01)	.	UFL1_HUMAN	UFL1	HGNC	B7ZAY8_HUMAN	.	UPI0000072D61	SNV	UFL1,missense_variant,p.Glu542Lys,ENST00000369278,;	1690	99	106	SUCCESS
MGAM	8972	.	GRCh37	7	141734140	141734140	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	119	211	1	ENST00000549489.2:c.1748A>C	p.His583Pro	p.H583P	ENST00000549489	NM_004668.2	583	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS47727.1	1748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCACAATC	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	15/48	.	.	.	.	.	.	.	.	.	15/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.His583Pro,ENST00000475668,;MGAM,missense_variant,p.His583Pro,ENST00000549489,;MGAM,upstream_gene_variant,,ENST00000490593,;MGAM,downstream_gene_variant,,ENST00000495045,;	1843	213	139	SUCCESS
TRPV5	56302	.	GRCh37	7	142625797	142625797	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377425606	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	11	147	0	ENST00000265310.1:c.751G>A	p.Gly251Ser	p.G251S	ENST00000265310	NM_019841.4	251	Ggt/Agt	0	T:0.0002	.	.	.	.	T	G/S	protein_coding	YES	CCDS5875.1	751	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCCTCCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	T:0	ENSP00000265310	.	6/15	.	.	.	.	.	.	.	.	rs377425606	6/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,missense_variant,p.Gly251Ser,ENST00000442623,;TRPV5,missense_variant,p.Gly245Ser,ENST00000439304,;TRPV5,missense_variant,p.Gly251Ser,ENST00000265310,;	1100	147	90	SUCCESS
HDAC9	9734	.	GRCh37	7	18767353	18767353	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766702378	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	16	185	0	ENST00000432645.2:c.1873C>A	p.Arg625Ser	p.R625S	ENST00000432645	NM_058176.2	625	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS47553.1	1882	MUTECT|MUSE	.	TGGACCGCCCC	NONE	byFrequency	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	12/25	.	.	.	.	.	.	.	.	rs766702378,COSM1254012,COSM1254011	12/25	PASS	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.04)	.	tolerated(0.43)	0,1,1	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Arg584Ser,ENST00000401921,;HDAC9,missense_variant,p.Arg625Ser,ENST00000406451,;HDAC9,missense_variant,p.Arg625Ser,ENST00000432645,;HDAC9,missense_variant,p.Arg628Ser,ENST00000441542,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1882	185	251	SUCCESS
SDK1	221935	.	GRCh37	7	4008918	4008918	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753638529	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	60	128	1	ENST00000404826.2:c.1576C>T	p.Arg526Trp	p.R526W	ENST00000404826	NM_152744.3	526	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS34590.1	1576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCGGATT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	11/45	.	.	.	.	.	.	.	.	rs753638529,COSM1225019	11/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.846)	.	deleterious(0)	0,1	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Arg526Trp,ENST00000404826,;SDK1,missense_variant,p.Arg526Trp,ENST00000389531,;SDK1,upstream_gene_variant,,ENST00000484011,;	1715	129	170	SUCCESS
TNS3	64759	.	GRCh37	7	47384383	47384383	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	42	0	ENST00000311160.9:c.2620A>T	p.Ser874Cys	p.S874C	ENST00000311160	NM_022748.11	874	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS5506.2	2620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCTGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	.	ENSP00000381854	.	20/31	.	.	.	.	.	.	.	.	.	20/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.05)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Ser874Cys,ENST00000398879,;TNS3,missense_variant,p.Ser874Cys,ENST00000311160,;TNS3,missense_variant,p.Ser977Cys,ENST00000457718,;TNS3,missense_variant,p.Ser634Cys,ENST00000355730,;	2987	42	57	SUCCESS
ABCA13	154664	.	GRCh37	7	48559880	48559880	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs760564740	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	6	153	0	ENST00000435803.1:c.14041C>T	p.Arg4681Ter	p.R4681*	ENST00000435803	NM_152701.3	4681	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS47584.1	14041	MUTECT|MUSE	.	TTCTGCGATGG	NONE	byFrequency	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Low_complexity_(Seg):seg	.	.	ENSP00000411096	.	53/62	.	.	.	.	.	.	.	.	rs760564740	53/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,stop_gained,p.Arg4681Ter,ENST00000435803,;ABCA13,stop_gained,p.Arg411Ter,ENST00000544596,;ABCA13,stop_gained,p.Arg454Ter,ENST00000411975,;ABCA13,downstream_gene_variant,,ENST00000435451,;ABCA13,stop_gained,p.Arg947Ter,ENST00000453246,;	14065	153	170	SUCCESS
PAPOLB	56903	.	GRCh37	7	4900131	4900131	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	50	169	0	ENST00000404991.1:c.1308G>A	p.Met436Ile	p.M436I	ENST00000404991	NM_020144.4	436	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	.	1308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCACATTGT	NONE	.	.	hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Gene3D:3.30.70.590,Pfam_domain:PF04926,PIRSF_domain:PIRSF018425,Superfamily_domains:SSF55003	.	.	ENSP00000384700	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000404991	Transcript	.	.	ENSG00000218823	15970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0.03)	.	PAPOB_HUMAN	PAPOLB	HGNC	A4D1Z6_HUMAN	.	UPI0000131304	SNV	PAPOLB,missense_variant,p.Met436Ile,ENST00000404991,;RADIL,intron_variant,,ENST00000399583,;RADIL,intron_variant,,ENST00000536091,;RADIL,intron_variant,,ENST00000445392,;AC092610.12,downstream_gene_variant,,ENST00000454916,;	1495	169	249	SUCCESS
ZNF479	90827	.	GRCh37	7	57188708	57188708	+	synonymous_variant	Silent	SNP	G	G	A	rs1360513637	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	194	147	293	2	ENST00000331162.4:c.414C>T	p.His138=	p.H138=	ENST00000331162	NM_033273.1	138	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS43590.1	414	RADIA|VARSCANS	.	CCCTTGTGCAC	NONE	.	.	hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,synonymous_variant,p.%3D,ENST00000331162,;	685	295	341	SUCCESS
SEMA3C	10512	.	GRCh37	7	80435065	80435065	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	30	0	ENST00000265361.3:c.548T>A	p.Leu183His	p.L183H	ENST00000265361	NM_006379.3	183	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS5596.1	548	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAGCTCC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265361	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,missense_variant,p.Leu183His,ENST00000265361,;SEMA3C,missense_variant,p.Leu201His,ENST00000544525,;SEMA3C,missense_variant,p.Leu35His,ENST00000536800,;SEMA3C,missense_variant,p.Leu183His,ENST00000419255,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;	1110	30	47	SUCCESS
CYP3A7	1551	.	GRCh37	7	99314832	99314832	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	65	231	2	ENST00000336374.2:c.489A>C	p.Glu163Asp	p.E163D	ENST00000336374	NM_000765.3	163	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS5673.1	489	RADIA|SOMATICSNIPER|VARSCANS	.	TCTGCTTCCCG	NONE	.	.	hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000337450	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000336374	Transcript	.	.	ENSG00000160870	2640	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.07)	.	CP3A7_HUMAN	CYP3A7	HGNC	.	.	UPI000013F283	SNV	CYP3A7,missense_variant,p.Glu163Asp,ENST00000336374,;AC069294.1,downstream_gene_variant,,ENST00000408560,;CYP3A7,non_coding_transcript_exon_variant,,ENST00000498080,;CYP3A7,non_coding_transcript_exon_variant,,ENST00000477357,;	492	233	220	SUCCESS
MCM7	4176	.	GRCh37	7	99691936	99691936	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	65	0	ENST00000303887.5:c.1708C>T	p.Gln570Ter	p.Q570*	ENST00000303887	NM_001278595.1	570	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5683.1	1708	MUTECT|MUSE	.	GGGCTGCTTCT	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000307288	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,stop_gained,p.Gln394Ter,ENST00000354230,;MCM7,stop_gained,p.Gln570Ter,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;MCM7,downstream_gene_variant,,ENST00000425308,;COPS6,downstream_gene_variant,,ENST00000419210,;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000303904,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MCM7,3_prime_UTR_variant,,ENST00000491245,;MCM7,non_coding_transcript_exon_variant,,ENST00000493352,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;COPS6,downstream_gene_variant,,ENST00000474823,;COPS6,downstream_gene_variant,,ENST00000426712,;COPS6,downstream_gene_variant,,ENST00000496358,;MCM7,downstream_gene_variant,,ENST00000463722,;COPS6,downstream_gene_variant,,ENST00000472107,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000468499,;COPS6,downstream_gene_variant,,ENST00000465027,;COPS6,downstream_gene_variant,,ENST00000483891,;	2354	65	55	SUCCESS
CSMD3	114788	.	GRCh37	8	113519031	113519031	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	75	0	ENST00000297405.5:c.4784C>A	p.Ser1595Tyr	p.S1595Y	ENST00000297405	NM_198123.1	1595	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6315.1	4784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGATCCT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	29/71	.	.	.	.	.	.	.	.	.	29/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ser1595Tyr,ENST00000352409,;CSMD3,missense_variant,p.Ser1491Tyr,ENST00000455883,;CSMD3,missense_variant,p.Ser1595Tyr,ENST00000297405,;CSMD3,missense_variant,p.Ser935Tyr,ENST00000339701,;CSMD3,missense_variant,p.Ser1555Tyr,ENST00000343508,;	5029	75	78	SUCCESS
ASAP1	50807	.	GRCh37	8	131104271	131104271	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	70	0	ENST00000518721.1:c.2520C>A	p.Asp840Glu	p.D840E	ENST00000518721	NM_001247996.1	840	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS6362.1	2520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGTCGGA	NONE	.	.	hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180	.	.	ENSP00000350297	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.79)	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,missense_variant,p.Asp840Glu,ENST00000518721,;ASAP1,missense_variant,p.Asp661Glu,ENST00000524124,;ASAP1,missense_variant,p.Asp840Glu,ENST00000357668,;ASAP1,intron_variant,,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000520189,;	2548	70	79	SUCCESS
PIWIL2	55124	.	GRCh37	8	22136992	22136992	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	48	105	0	ENST00000356766.6:c.93T>G	p.Ala31=	p.A31=	ENST00000356766	NM_018068.3	31	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6029.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTTCTAA	NONE	.	.	.	.	.	ENSP00000349208	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000356766	Transcript	.	.	ENSG00000197181	17644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL2_HUMAN	PIWIL2	HGNC	.	.	UPI000006E98E	SNV	PIWIL2,synonymous_variant,p.%3D,ENST00000521356,;PIWIL2,synonymous_variant,p.%3D,ENST00000454009,;PIWIL2,synonymous_variant,p.%3D,ENST00000356766,;CTD-2530N21.4,upstream_gene_variant,,ENST00000523556,;	241	105	107	SUCCESS
TRPA1	8989	.	GRCh37	8	72967815	72967815	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs944401339	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	66	292	0	ENST00000262209.4:c.1385G>T	p.Cys462Phe	p.C462F	ENST00000262209	NM_007332.2	462	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34908.1	1385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACAGGTA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Cys314Phe,ENST00000523582,;TRPA1,missense_variant,p.Cys462Phe,ENST00000262209,;RP11-383H13.1,downstream_gene_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,downstream_gene_variant,,ENST00000512290,;RP11-383H13.1,splice_region_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000520788,;RP11-383H13.1,downstream_gene_variant,,ENST00000522519,;	1593	293	309	SUCCESS
RPP25L	138716	.	GRCh37	9	34610870	34610870	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	45	0	ENST00000297613.4:c.424C>G	p.Leu142Val	p.L142V	ENST00000297613	NM_148179.2	142	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6559.1	424	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGGCCAG	NONE	.	.	hmmpanther:PTHR13516,hmmpanther:PTHR13516:SF2	.	.	ENSP00000297613	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297613	Transcript	.	.	ENSG00000164967	19909	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.636)	.	tolerated(0.12)	.	RP25L_HUMAN	RPP25L	HGNC	.	.	UPI000006FAD5	SNV	RPP25L,missense_variant,p.Leu142Val,ENST00000297613,;RPP25L,missense_variant,p.Leu142Val,ENST00000378959,;DCTN3,downstream_gene_variant,,ENST00000447983,;DCTN3,downstream_gene_variant,,ENST00000378916,;DCTN3,downstream_gene_variant,,ENST00000341694,;DCTN3,downstream_gene_variant,,ENST00000378913,;DCTN3,downstream_gene_variant,,ENST00000421919,;DCTN3,downstream_gene_variant,,ENST00000259632,;DCTN3,downstream_gene_variant,,ENST00000477738,;DCTN3,downstream_gene_variant,,ENST00000472074,;DCTN3,downstream_gene_variant,,ENST00000472418,;DCTN3,downstream_gene_variant,,ENST00000479399,;DCTN3,downstream_gene_variant,,ENST00000481438,;	705	45	28	SUCCESS
ASPN	54829	.	GRCh37	9	95228783	95228783	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371768627	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	15	180	0	ENST00000375544.3:c.458G>A	p.Arg153Gln	p.R153Q	ENST00000375544	NM_017680.4	153	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	.	458	MUTECT|MUSE	.	GCCTTCGCAAC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF10,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	T:0.0001	ENSP00000364694	.	4/8	.	.	.	.	.	.	.	.	rs371768627	4/8	PASS	ENST00000375544	Transcript	.	.	ENSG00000106819	14872	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.097)	.	tolerated(0.64)	.	ASPN_HUMAN	ASPN	HGNC	Q6P528_HUMAN	.	UPI000013C839	SNV	ASPN,missense_variant,p.Arg153Gln,ENST00000375544,;ASPN,missense_variant,p.Arg153Gln,ENST00000395538,;ASPN,missense_variant,p.Arg153Gln,ENST00000375543,;CENPP,intron_variant,,ENST00000375587,;ASPN,downstream_gene_variant,,ENST00000450139,;	702	180	189	SUCCESS
CAPN6	827	.	GRCh37	X	110497516	110497516	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs779587945	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	59	82	0	ENST00000324068.1:c.281del	p.Glu94GlyfsTer42	p.E94Gfs*42	ENST00000324068	NM_014289.3	94	gAg/gg	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS14555.1	281	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGACTCCTGA	NONE	byFrequency	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF281,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000317214	.	3/13	.	.	.	.	.	.	.	.	rs779587945	3/13	PASS	ENST00000324068	Transcript	.	.	ENSG00000077274	1483	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAN6_HUMAN	CAPN6	HGNC	F5GWQ6_HUMAN	.	UPI0000126EA1	deletion	CAPN6,frameshift_variant,p.Glu94GlyfsTer42,ENST00000324068,;CAPN6,5_prime_UTR_variant,,ENST00000541758,;	449	82	121	SUCCESS
MAGEE2	139599	.	GRCh37	X	75003421	75003421	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	42	242	1	ENST00000373359.2:c.1466G>A	p.Arg489Lys	p.R489K	ENST00000373359	NM_138703.4	489	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS14431.1	1466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCTGTAG	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.96)	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,missense_variant,p.Arg489Lys,ENST00000373359,;	1659	243	111	SUCCESS
CYLC1	1538	.	GRCh37	X	83128349	83128349	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	78	0	ENST00000329312.4:c.633T>A	p.Thr211=	p.T211=	ENST00000329312	NM_021118.2	211	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS35341.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACTGAATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,synonymous_variant,p.%3D,ENST00000329312,;	670	78	61	SUCCESS
C10orf76	0	.	GRCh37	10	103609618	103609618	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199549255	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	94	0	ENST00000370033.4:c.1892C>T	p.Thr631Met	p.T631M	ENST00000370033	NM_024541.2	631	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS41563.1	1892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGTGTCA	NONE	by1000G	.	hmmpanther:PTHR13608:SF3,hmmpanther:PTHR13608,Pfam_domain:PF08427	.	.	ENSP00000359050	.	25/26	.	.	.	.	.	.	.	.	rs199549255	25/26	nonpreferredpair	ENST00000370033	Transcript	.	.	ENSG00000120029	25788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CJ076_HUMAN	C10orf76	HGNC	.	.	UPI000047005B	SNV	C10orf76,missense_variant,p.Thr631Met,ENST00000370033,;C10orf76,non_coding_transcript_exon_variant,,ENST00000495001,;	2012	94	85	SUCCESS
TTC40	0	.	GRCh37	10	134742941	134742941	+	intron_variant	Intron	SNP	G	G	A	rs547496534	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	28	0	ENST00000368586.5:c.966+268C>T		p.*322*	ENST00000368586	NM_001200049.2			0	.	A:0.0008	.	A:0.0014	.	A	.	protein_coding	YES	CCDS58101.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGTCCGT	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000357575	A:0	.	.	.	.	.	.	.	.	.	rs547496534	.	nonpreferredpair	ENST00000368586	Transcript	.	A:0.0004	ENSG00000171811	25247	.	.	MODIFIER	9/57	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,3_prime_UTR_variant,,ENST00000368585,;TTC40,intron_variant,,ENST00000368582,;TTC40,intron_variant,,ENST00000368586,;	.	28	17	SUCCESS
RET	5979	.	GRCh37	10	43615627	43615627	+	synonymous_variant	Silent	SNP	G	G	A	rs1468709610	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	67	1	ENST00000355710.3:c.2706G>A	p.Glu902=	p.E902=	ENST00000355710	NM_020975.4	902	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7200.1	2706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGGATTC	BUFFER|p.D898_E901del|c.2694_2705del12|4	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000631,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000347942	.	15/20	.	.	.	.	.	.	.	.	.	15/20	nonpreferredpair	ENST00000355710	Transcript	1	.	ENSG00000165731	9967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET_HUMAN	RET	HGNC	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	.	UPI00001336E1	SNV	RET,synonymous_variant,p.%3D,ENST00000340058,;RET,synonymous_variant,p.%3D,ENST00000355710,;	2938	68	65	SUCCESS
GDF2	2658	.	GRCh37	10	48413956	48413956	+	synonymous_variant	Silent	SNP	C	C	T	rs201627211	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	86	1	ENST00000249598.1:c.912G>A	p.Thr304=	p.T304=	ENST00000249598	NM_016204.1	304	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7219.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCGTGTC	NONE	byCluster	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127	.	.	ENSP00000249598	.	2/2	.	.	.	.	.	.	.	.	rs201627211,COSM2154761,COSM330752	2/2	nonpreferredpair	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,synonymous_variant,p.%3D,ENST00000249598,;	1072	87	99	SUCCESS
C10orf40	0	.	GRCh37	10	61719363	61719363	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	241	69	340	0	ENST00000521074.1:c.-692C>A		p.*231*	ENST00000521074				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAGGGTTT	NONE	.	.	.	.	.	ENSP00000430990	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000521074	Transcript	.	.	ENSG00000235931	23524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ040_HUMAN	C10orf40	HGNC	.	.	UPI00001600DA	SNV	C10orf40,5_prime_UTR_variant,,ENST00000521074,;C10orf40,5_prime_UTR_variant,,ENST00000444900,;C10orf40,upstream_gene_variant,,ENST00000430888,;	396	340	310	SUCCESS
LRRTM3	347731	.	GRCh37	10	68687250	68687250	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	70	0	ENST00000361320.4:c.576G>T	p.Arg192=	p.R192=	ENST00000361320	NM_178011.3	192	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7270.1	576	MUTECT|MUSE	.	AACCGGATCCG	BUFFER|p.R194Q|c.581G>A|3,BUFFER|p.R194Q|c.581G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,synonymous_variant,p.%3D,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	1154	70	48	SUCCESS
LRRTM3	347731	.	GRCh37	10	68687251	68687251	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	70	0	ENST00000361320.4:c.577A>T	p.Ile193Phe	p.I193F	ENST00000361320	NM_178011.3	193	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS7270.1	577	MUTECT|MUSE	.	ACCGGATCCGA	BUFFER|p.R194Q|c.581G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000355187	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000361320	Transcript	.	.	ENSG00000198739	19410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	LRRT3_HUMAN	LRRTM3	HGNC	B4DFC3_HUMAN	.	UPI0000088C0F	SNV	LRRTM3,missense_variant,p.Ile193Phe,ENST00000361320,;CTNNA3,intron_variant,,ENST00000433211,;CTNNA3,intron_variant,,ENST00000494580,;CTNNA3,intron_variant,,ENST00000373744,;	1155	70	47	SUCCESS
DYNC2H1	79659	.	GRCh37	11	102988459	102988459	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1302921684	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	64	0	ENST00000375735.2:c.866C>T	p.Ser289Leu	p.S289L	ENST00000375735	NM_001080463.1	289	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS44717.1	866	RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCAATTT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Pfam_domain:PF08385	.	.	ENSP00000381167	.	6/90	.	.	.	.	.	.	.	.	.	6/90	nonpreferredpair	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Ser289Leu,ENST00000398093,;DYNC2H1,missense_variant,p.Ser289Leu,ENST00000334267,;DYNC2H1,missense_variant,p.Ser289Leu,ENST00000375735,;	866	64	73	SUCCESS
BTG4	54766	.	GRCh37	11	111367922	111367922	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	58	0	ENST00000356018.2:c.510+14C>A		p.*170*	ENST00000356018	NM_017589.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8346.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTGGAACA	NONE	.	.	.	.	.	ENSP00000348300	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000356018	Transcript	.	.	ENSG00000137707	13862	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTG4_HUMAN	BTG4	HGNC	E9PRM5_HUMAN	.	UPI0000126B15	SNV	BTG4,missense_variant,p.Pro175Gln,ENST00000525791,;BTG4,intron_variant,,ENST00000356018,;BTG4,downstream_gene_variant,,ENST00000456861,;	.	58	66	SUCCESS
JAM3	83700	.	GRCh37	11	134014143	134014143	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	63	0	ENST00000299106.4:c.264G>C	p.Leu88Phe	p.L88F	ENST00000299106		88	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS8494.2	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGGCGGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF5,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000299106	.	4/9	.	.	.	.	.	.	.	.	.	4/9	nonpreferredpair	ENST00000299106	Transcript	.	.	ENSG00000166086	15532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	tolerated(0.19)	.	JAM3_HUMAN	JAM3	HGNC	.	.	UPI0000034063	SNV	JAM3,missense_variant,p.Leu133Phe,ENST00000529443,;JAM3,missense_variant,p.Leu88Phe,ENST00000299106,;JAM3,missense_variant,p.Leu28Phe,ENST00000534549,;JAM3,intron_variant,,ENST00000441717,;JAM3,non_coding_transcript_exon_variant,,ENST00000524969,;JAM3,non_coding_transcript_exon_variant,,ENST00000532165,;JAM3,3_prime_UTR_variant,,ENST00000532252,;JAM3,non_coding_transcript_exon_variant,,ENST00000531302,;JAM3,upstream_gene_variant,,ENST00000533711,;	423	63	86	SUCCESS
NUP160	23279	.	GRCh37	11	47801951	47801951	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs62000434	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	88	0	ENST00000378460.2:c.4165A>G	p.Ile1389Val	p.I1389V	ENST00000378460	NM_015231.1	1389	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31484.1	4165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATAGAGG	NONE	.	.	hmmpanther:PTHR21286	.	.	ENSP00000367721	.	35/36	.	.	.	.	.	.	.	.	rs62000434	35/36	nonpreferredpair	ENST00000378460	Transcript	.	.	ENSG00000030066	18017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.464)	.	deleterious(0.04)	.	NU160_HUMAN	NUP160	HGNC	.	.	UPI0000185FEB	SNV	NUP160,missense_variant,p.Ile1389Val,ENST00000378460,;NUP160,intron_variant,,ENST00000530326,;NUP160,downstream_gene_variant,,ENST00000532773,;	4212	88	101	SUCCESS
PTPRJ	5795	.	GRCh37	11	48185171	48185171	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	52	69	0	ENST00000418331.2:c.3719+1G>T		p.X1240_splice	ENST00000418331	NM_002843.3	1240		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7945.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGTACGC	NONE	.	.	.	.	.	ENSP00000400010	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000418331	Transcript	.	.	ENSG00000149177	9673	.	.	HIGH	23/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRJ_HUMAN	PTPRJ	HGNC	Q9NPR5_HUMAN	.	UPI00004564C8	SNV	PTPRJ,splice_donor_variant,,ENST00000418331,;	.	69	97	SUCCESS
CTNND1	1500	.	GRCh37	11	57577636	57577636	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	42	0	ENST00000399050.4:c.2491G>T	p.Gly831Ter	p.G831*	ENST00000399050	NM_001085458.1	831	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS44604.1	2491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGGATAT	NONE	.	.	hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000382004	.	16/21	.	.	.	.	.	.	.	.	COSM1196379,COSM1196378	16/21	nonpreferredpair	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,stop_gained,p.Gly825Ter,ENST00000361796,;CTNND1,stop_gained,p.Gly724Ter,ENST00000532787,;CTNND1,stop_gained,p.Gly771Ter,ENST00000526357,;CTNND1,stop_gained,p.Gly825Ter,ENST00000428599,;CTNND1,stop_gained,p.Gly502Ter,ENST00000533667,;CTNND1,stop_gained,p.Gly771Ter,ENST00000532649,;CTNND1,stop_gained,p.Gly730Ter,ENST00000528232,;CTNND1,stop_gained,p.Gly831Ter,ENST00000529919,;CTNND1,stop_gained,p.Gly8Ter,ENST00000531007,;CTNND1,stop_gained,p.Gly771Ter,ENST00000529873,;CTNND1,stop_gained,p.Gly777Ter,ENST00000532844,;CTNND1,stop_gained,p.Gly502Ter,ENST00000531014,;CTNND1,stop_gained,p.Gly724Ter,ENST00000532463,;CTNND1,stop_gained,p.Gly730Ter,ENST00000415361,;CTNND1,stop_gained,p.Gly724Ter,ENST00000530094,;CTNND1,stop_gained,p.Gly724Ter,ENST00000529986,;CTNND1,stop_gained,p.Gly508Ter,ENST00000527467,;CTNND1,stop_gained,p.Gly724Ter,ENST00000532245,;CTNND1,stop_gained,p.Gly777Ter,ENST00000530748,;CTNND1,stop_gained,p.Gly771Ter,ENST00000528621,;CTNND1,stop_gained,p.Gly825Ter,ENST00000361391,;CTNND1,stop_gained,p.Gly831Ter,ENST00000399050,;CTNND1,stop_gained,p.Gly771Ter,ENST00000534579,;CTNND1,stop_gained,p.Gly831Ter,ENST00000526938,;CTNND1,stop_gained,p.Gly771Ter,ENST00000529526,;CTNND1,stop_gained,p.Gly831Ter,ENST00000399039,;CTNND1,stop_gained,p.Gly831Ter,ENST00000360682,;CTNND1,stop_gained,p.Gly825Ter,ENST00000524630,;CTNND1,stop_gained,p.Gly825Ter,ENST00000358694,;CTNND1,stop_gained,p.Gly724Ter,ENST00000426142,;CTNND1,stop_gained,p.Gly502Ter,ENST00000526772,;CTNND1,stop_gained,p.Gly825Ter,ENST00000361332,;CTNND1,stop_gained,p.Gly508Ter,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000530720,;CTNND1,upstream_gene_variant,,ENST00000525821,;	3027	42	40	SUCCESS
CTNND1	1500	.	GRCh37	11	57577637	57577637	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	41	0	ENST00000399050.4:c.2492G>T	p.Gly831Val	p.G831V	ENST00000399050	NM_001085458.1	831	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS44604.1	2492	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGGGATATA	NONE	.	.	hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000382004	.	16/21	.	.	.	.	.	.	.	.	.	16/21	nonpreferredpair	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.613)	.	deleterious(0.02)	.	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,missense_variant,p.Gly825Val,ENST00000361796,;CTNND1,missense_variant,p.Gly724Val,ENST00000532787,;CTNND1,missense_variant,p.Gly771Val,ENST00000526357,;CTNND1,missense_variant,p.Gly825Val,ENST00000428599,;CTNND1,missense_variant,p.Gly502Val,ENST00000533667,;CTNND1,missense_variant,p.Gly771Val,ENST00000532649,;CTNND1,missense_variant,p.Gly730Val,ENST00000528232,;CTNND1,missense_variant,p.Gly831Val,ENST00000529919,;CTNND1,missense_variant,p.Gly8Val,ENST00000531007,;CTNND1,missense_variant,p.Gly771Val,ENST00000529873,;CTNND1,missense_variant,p.Gly777Val,ENST00000532844,;CTNND1,missense_variant,p.Gly502Val,ENST00000531014,;CTNND1,missense_variant,p.Gly724Val,ENST00000532463,;CTNND1,missense_variant,p.Gly730Val,ENST00000415361,;CTNND1,missense_variant,p.Gly724Val,ENST00000530094,;CTNND1,missense_variant,p.Gly724Val,ENST00000529986,;CTNND1,missense_variant,p.Gly508Val,ENST00000527467,;CTNND1,missense_variant,p.Gly724Val,ENST00000532245,;CTNND1,missense_variant,p.Gly777Val,ENST00000530748,;CTNND1,missense_variant,p.Gly771Val,ENST00000528621,;CTNND1,missense_variant,p.Gly825Val,ENST00000361391,;CTNND1,missense_variant,p.Gly831Val,ENST00000399050,;CTNND1,missense_variant,p.Gly771Val,ENST00000534579,;CTNND1,missense_variant,p.Gly831Val,ENST00000526938,;CTNND1,missense_variant,p.Gly771Val,ENST00000529526,;CTNND1,missense_variant,p.Gly831Val,ENST00000399039,;CTNND1,missense_variant,p.Gly831Val,ENST00000360682,;CTNND1,missense_variant,p.Gly825Val,ENST00000524630,;CTNND1,missense_variant,p.Gly825Val,ENST00000358694,;CTNND1,missense_variant,p.Gly724Val,ENST00000426142,;CTNND1,missense_variant,p.Gly502Val,ENST00000526772,;CTNND1,missense_variant,p.Gly825Val,ENST00000361332,;CTNND1,missense_variant,p.Gly508Val,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000530720,;CTNND1,upstream_gene_variant,,ENST00000525821,;	3028	41	39	SUCCESS
INCENP	3619	.	GRCh37	11	61912532	61912532	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1302950403	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	46	66	0	ENST00000394818.3:c.1684G>A	p.Asp562Asn	p.D562N	ENST00000394818	NM_001040694.1	562	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS44624.1	1684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGACAAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142,hmmpanther:PTHR13142:SF1	.	.	ENSP00000378295	.	12/19	.	.	.	.	.	.	.	.	.	12/19	nonpreferredpair	ENST00000394818	Transcript	.	.	ENSG00000149503	6058	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	INCE_HUMAN	INCENP	HGNC	E9PM67_HUMAN	.	UPI0000D7D6F3	SNV	INCENP,missense_variant,p.Asp558Asn,ENST00000278849,;INCENP,missense_variant,p.Asp562Asn,ENST00000394818,;INCENP,downstream_gene_variant,,ENST00000528375,;	1886	66	85	SUCCESS
LGALS12	85329	.	GRCh37	11	63277947	63277947	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773447125	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	44	145	0	ENST00000394618.3:c.571G>A	p.Gly191Ser	p.G191S	ENST00000394618	NM_033101.3	191	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS44633.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGGCAGC	NONE	.	.	hmmpanther:PTHR11346:SF19,hmmpanther:PTHR11346	.	.	ENSP00000339374	.	5/9	.	.	.	.	.	.	.	.	rs773447125	5/9	nonpreferredpair	ENST00000340246	Transcript	.	.	ENSG00000133317	15788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.25)	.	.	LGALS12	HGNC	G5E970_HUMAN	.	UPI000014130D	SNV	LGALS12,missense_variant,p.Gly130Ser,ENST00000425950,;LGALS12,missense_variant,p.Gly191Ser,ENST00000255684,;LGALS12,missense_variant,p.Gly130Ser,ENST00000415491,;LGALS12,missense_variant,p.Gly192Ser,ENST00000340246,;LGALS12,missense_variant,p.Gly191Ser,ENST00000394618,;	604	145	215	SUCCESS
SF1	7536	.	GRCh37	11	64537468	64537468	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	46	83	0	ENST00000377390.3:c.447A>C	p.Glu149Asp	p.E149D	ENST00000377390	NM_004630.3	149	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS53661.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATTTCTGG	NONE	.	.	hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000366604	.	5/13	.	.	.	.	.	.	.	.	.	5/13	nonpreferredpair	ENST00000377387	Transcript	.	.	ENSG00000168066	12950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.19)	.	SF01_HUMAN	SF1	HGNC	Q14821_HUMAN,C9J792_HUMAN,B4DX42_HUMAN	.	UPI0000074300	SNV	SF1,missense_variant,p.Glu149Asp,ENST00000227503,;SF1,missense_variant,p.Glu149Asp,ENST00000377390,;SF1,missense_variant,p.Glu34Asp,ENST00000422298,;SF1,missense_variant,p.Glu149Asp,ENST00000377394,;SF1,missense_variant,p.Glu149Asp,ENST00000334944,;SF1,missense_variant,p.Glu274Asp,ENST00000377387,;SF1,missense_variant,p.Glu123Asp,ENST00000433274,;SF1,upstream_gene_variant,,ENST00000443908,;SF1,downstream_gene_variant,,ENST00000432725,;SF1,upstream_gene_variant,,ENST00000486867,;SF1,upstream_gene_variant,,ENST00000413725,;SF1,non_coding_transcript_exon_variant,,ENST00000496969,;SF1,upstream_gene_variant,,ENST00000489544,;SF1,3_prime_UTR_variant,,ENST00000448404,;SF1,non_coding_transcript_exon_variant,,ENST00000486960,;SF1,upstream_gene_variant,,ENST00000477596,;SF1,downstream_gene_variant,,ENST00000482693,;SF1,downstream_gene_variant,,ENST00000413951,;	899	83	99	SUCCESS
TENM4	26011	.	GRCh37	11	78380618	78380618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	15	131	0	ENST00000278550.7:c.6772G>A	p.Asp2258Asn	p.D2258N	ENST00000278550	NM_001098816.2	2258	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS44688.1	6772	MUTECT|MUSE	.	GCCATCCTCAT	NONE	.	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	32/34	.	.	.	.	.	.	.	.	.	32/34	nonpreferredpair	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Asp2258Asn,ENST00000278550,;TENM4,missense_variant,p.Asp722Asn,ENST00000530738,;	7235	131	227	SUCCESS
TMEM52B	120939	.	GRCh37	12	10332058	10332058	+	intron_variant	Intron	SNP	G	G	A	rs550743558	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	12	0	ENST00000381923.2:c.-94-22G>A		p.*32*	ENST00000381923	NM_001079815.1			0	.	C:0.0008	.	C:0	.	A	.	protein_coding	YES	CCDS8619.1	.	MUTECT|MUSE	.	TTCCTGAGAAA	NONE	by1000G	.	.	C:0	.	ENSP00000298530	C:0	1/4	.	.	.	.	.	.	.	.	rs550743558	1/4	nonpreferredpair	ENST00000298530	Transcript	.	C:0.0002	ENSG00000165685	26438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	TM52B_HUMAN	TMEM52B	HGNC	.	.	UPI000006D360	SNV	TMEM52B,5_prime_UTR_variant,,ENST00000298530,;TMEM52B,5_prime_UTR_variant,,ENST00000543484,;TMEM52B,intron_variant,,ENST00000381923,;TMEM52B,upstream_gene_variant,,ENST00000536952,;TMEM52B,downstream_gene_variant,,ENST00000545924,;	447	12	9	SUCCESS
GCN1L1	0	.	GRCh37	12	120602471	120602471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	150	0	ENST00000300648.6:c.1667G>T	p.Arg556Ile	p.R556I	ENST00000300648	NM_006836.1	556	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS41847.1	1667	MUTECT|MUSE	.	TGAGTCTATGC	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF12074,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	17/58	.	.	.	.	.	.	.	.	.	17/58	nonpreferredpair	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.778)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Arg556Ile,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000550471,;GCN1L1,downstream_gene_variant,,ENST00000551549,;GCN1L1,upstream_gene_variant,,ENST00000547369,;	1680	150	152	SUCCESS
TMEM132D	121256	.	GRCh37	12	129559354	129559354	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	267	24	282	0	ENST00000422113.2:c.2366G>A	p.Gly789Glu	p.G789E	ENST00000422113	NM_133448.2	789	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS9266.1	2366	MUTECT|MUSE|VARSCANS	.	CCGTTCCAACA	NONE	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Gly789Glu,ENST00000422113,;TMEM132D,missense_variant,p.Gly327Glu,ENST00000389441,;	2693	282	291	SUCCESS
ITGA5	3678	.	GRCh37	12	54798211	54798211	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	24	69	0	ENST00000293379.4:c.1463+3A>G		p.X488_splice	ENST00000293379	NM_002205.2	488		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8880.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATACCTG	NONE	.	.	.	.	.	ENSP00000293379	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000293379	Transcript	.	.	ENSG00000161638	6141	.	.	LOW	14/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITA5_HUMAN	ITGA5	HGNC	.	.	UPI000012D9F3	SNV	ITGA5,splice_region_variant,,ENST00000293379,;ITGA5,upstream_gene_variant,,ENST00000547197,;RP11-753H16.5,intron_variant,,ENST00000552785,;RP11-753H16.3,intron_variant,,ENST00000550474,;ITGA5,splice_region_variant,,ENST00000552564,;ITGA5,non_coding_transcript_exon_variant,,ENST00000551861,;ITGA5,upstream_gene_variant,,ENST00000550141,;ITGA5,upstream_gene_variant,,ENST00000552431,;ITGA5,upstream_gene_variant,,ENST00000552387,;ITGA5,upstream_gene_variant,,ENST00000551564,;ITGA5,downstream_gene_variant,,ENST00000435631,;ITGA5,upstream_gene_variant,,ENST00000552583,;ITGA5,downstream_gene_variant,,ENST00000553071,;	.	69	107	SUCCESS
INHBE	83729	.	GRCh37	12	57849890	57849890	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	54	0	ENST00000266646.2:c.312C>T	p.Ala104=	p.A104=	ENST00000266646	NM_031479.3	104	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8939.1	312	MUTECT|MUSE	.	TCAGCCTACAG	NONE	.	.	hmmpanther:PTHR11848:SF6,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000266646	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000266646	Transcript	.	.	ENSG00000139269	24029	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INHBE_HUMAN	INHBE	HGNC	.	.	UPI000012D42C	SNV	INHBE,synonymous_variant,p.%3D,ENST00000266646,;INHBE,synonymous_variant,p.%3D,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,;GLI1,upstream_gene_variant,,ENST00000546141,;GLI1,upstream_gene_variant,,ENST00000528432,;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000543426,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,non_coding_transcript_exon_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;	528	54	86	SUCCESS
PIP4K2C	79837	.	GRCh37	12	57985226	57985226	+	synonymous_variant	Silent	SNP	C	C	T	rs1385841726	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	81	120	0	ENST00000354947.5:c.154C>T	p.Leu52=	p.L52=	ENST00000354947		52	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8946.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCTGTGG	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:2gk9B01,Superfamily_domains:SSF56104	.	.	ENSP00000347032	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000354947	Transcript	.	.	ENSG00000166908	23786	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI42C_HUMAN	PIP4K2C	HGNC	F8VU68_HUMAN	.	UPI000003F553	SNV	PIP4K2C,synonymous_variant,p.%3D,ENST00000550465,;PIP4K2C,synonymous_variant,p.%3D,ENST00000354947,;PIP4K2C,synonymous_variant,p.%3D,ENST00000422156,;PIP4K2C,synonymous_variant,p.%3D,ENST00000540759,;PIP4K2C,intron_variant,,ENST00000551772,;KIF5A,downstream_gene_variant,,ENST00000455537,;PIP4K2C,synonymous_variant,p.%3D,ENST00000550095,;PIP4K2C,intron_variant,,ENST00000550360,;	170	120	174	SUCCESS
ZNF705A	440077	.	GRCh37	12	8329947	8329947	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	79	0	ENST00000359286.4:c.671G>A	p.Gly224Glu	p.G224E	ENST00000359286	NM_001004328.2	224	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS31737.1	671	MUTECT|MUSE|VARSCANS	.	CACGGGAGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF18,hmmpanther:PTHR24381,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000352233	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000359286	Transcript	.	.	ENSG00000196946	32281	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	Z705A_HUMAN	ZNF705A	HGNC	J3KPU9_HUMAN,B5MCH6_HUMAN	.	UPI000035E780	SNV	ZNF705A,missense_variant,p.Gly224Glu,ENST00000359286,;ZNF705A,intron_variant,,ENST00000398526,;ZNF705A,downstream_gene_variant,,ENST00000396570,;ZNF705A,downstream_gene_variant,,ENST00000402465,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000456135,;FAM66C,upstream_gene_variant,,ENST00000544214,;	760	79	61	SUCCESS
TFDP1	7027	.	GRCh37	13	114277525	114277525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	47	84	0	ENST00000375370.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000375370	NM_007111.4	37	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS9538.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTCCACCG	NONE	.	.	hmmpanther:PTHR12548:SF4,hmmpanther:PTHR12548,PIRSF_domain:PIRSF009404	.	.	ENSP00000364519	.	4/12	.	.	.	.	.	.	.	.	.	4/12	nonpreferredpair	ENST00000375370	Transcript	.	.	ENSG00000198176	11749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	tolerated(0.07)	.	TFDP1_HUMAN	TFDP1	HGNC	Q5JSB5_HUMAN	.	UPI0000000CB6	SNV	TFDP1,missense_variant,p.Ser37Phe,ENST00000375370,;TFDP1,missense_variant,p.Ser37Phe,ENST00000453989,;TFDP1,missense_variant,p.Ser37Phe,ENST00000408980,;TFDP1,5_prime_UTR_variant,,ENST00000544902,;TFDP1,5_prime_UTR_variant,,ENST00000538138,;TFDP1,non_coding_transcript_exon_variant,,ENST00000465174,;TFDP1,non_coding_transcript_exon_variant,,ENST00000475254,;	322	84	170	SUCCESS
KLHL1	57626	.	GRCh37	13	70456494	70456494	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs988473664	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	10	135	0	ENST00000377844.4:c.1148T>G	p.Val383Gly	p.V383G	ENST00000377844	NM_020866.2	383	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS9445.1	1148	MUTECT|MUSE	.	ACTTGACCCAC	NONE	.	.	hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875	.	.	ENSP00000367075	.	5/11	.	.	.	.	.	.	.	.	.	5/11	nonpreferredpair	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,missense_variant,p.Val190Gly,ENST00000545028,;KLHL1,missense_variant,p.Val383Gly,ENST00000377844,;	1908	135	235	SUCCESS
POU4F1	5457	.	GRCh37	13	79175687	79175687	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	24	0	ENST00000377208.5:c.1123G>A	p.Ala375Thr	p.A375T	ENST00000377208	NM_006237.3	375	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31996.1	1123	MUTECT|MUSE	.	CACGGCGAAGT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000366413	.	2/2	.	.	.	.	.	.	.	.	COSM3376591	2/2	nonpreferredpair	ENST00000377208	Transcript	.	.	ENSG00000152192	9218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	tolerated(0.06)	1	PO4F1_HUMAN	POU4F1	HGNC	.	.	UPI000013DCAA	SNV	POU4F1,missense_variant,p.Ala375Thr,ENST00000377208,;RNF219-AS1,intron_variant,,ENST00000430549,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000607860,;RP11-52L5.6,downstream_gene_variant,,ENST00000607269,;	1335	24	25	SUCCESS
SLITRK1	114798	.	GRCh37	13	84454076	84454076	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	25	79	0	ENST00000377084.2:c.1567C>A	p.Gln523Lys	p.Q523K	ENST00000377084	NM_052910.2	523	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS9464.1	1567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGGATGA	NONE	.	.	hmmpanther:PTHR24373:SF33,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.02)	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,missense_variant,p.Gln523Lys,ENST00000377084,;	2453	79	129	SUCCESS
RTL1	388015	.	GRCh37	14	101349498	101349498	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769924231	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	35	119	0	ENST00000534062.1:c.1628C>T	p.Ala543Val	p.A543V	ENST00000534062	NM_001134888.2	543	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS53910.1	1628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGGCAATG	NONE	.	.	.	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	rs769924231	1/1	nonpreferredpair	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.722)	.	tolerated(0.07)	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,missense_variant,p.Ala543Val,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	1687	119	175	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414938	105414938	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs112406618	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	336	49	125	0	ENST00000333244.5:c.6850G>A	p.Val2284Met	p.V2284M	ENST00000333244	NM_138420.2	2284	Gtg/Atg	0	T:0.0023	T:0.0008	.	T:0.0014	.	T	V/M	protein_coding	YES	CCDS45177.1	6850	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACGCTGG	SITE|p.V2284M|c.6850G>A|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	T:0	T:0	ENSP00000353114	T:0	7/7	.	.	.	.	.	.	.	.	rs112406618,COSM953898	7/7	nonpreferredpair	ENST00000333244	Transcript	.	T:0.0004	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.002)	T:0	.	0,1	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Val2284Met,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	6970	125	385	SUCCESS
KLHL33	123103	.	GRCh37	14	20898551	20898551	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781672639	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	97	0	ENST00000344581.4:c.284G>A	p.Arg95His	p.R95H	ENST00000344581	NM_001109997.2	95	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS53882.1	284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACGGGCT	NONE	.	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875	.	.	ENSP00000341549	.	2/4	.	.	.	.	.	.	.	.	rs781672639	2/4	nonpreferredpair	ENST00000344581	Transcript	.	.	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.26)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Arg95His,ENST00000344581,;	507	97	107	SUCCESS
SUPT16H	11198	.	GRCh37	14	21821900	21821902	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-	rs773988222	.	TCGA-FV-A496-01	TCGA-FV-A496-11	TCC	TCC	.	.	.	.	.	.	.	.	.	.	.	.	.	188	36	191	0	ENST00000216297.2:c.2880_2882del	p.Glu960del	p.E960del	ENST00000216297	NM_007192.3	960	gaGGAc/gac	0	.	.	.	.	.	-	ED/D	protein_coding	YES	CCDS9569.1	2880-2882	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACTGTCCTCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980	.	.	ENSP00000216297	.	24/26	.	.	.	.	.	.	.	.	rs773988222	24/26	nonpreferredpair	ENST00000216297	Transcript	.	.	ENSG00000092201	11465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SP16H_HUMAN	SUPT16H	HGNC	.	.	UPI0000035D5C	deletion	SUPT16H,inframe_deletion,p.Glu960del,ENST00000216297,;RPGRIP1,downstream_gene_variant,,ENST00000400017,;RPGRIP1,downstream_gene_variant,,ENST00000382933,;RPGRIP1,downstream_gene_variant,,ENST00000557771,;RPGRIP1,downstream_gene_variant,,ENST00000307974,;RPGRIP1,downstream_gene_variant,,ENST00000555587,;RPGRIP1,downstream_gene_variant,,ENST00000206660,;RPGRIP1,downstream_gene_variant,,ENST00000556336,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000552829,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000557394,;RPGRIP1,downstream_gene_variant,,ENST00000555489,;RPGRIP1,downstream_gene_variant,,ENST00000553927,;RPGRIP1,downstream_gene_variant,,ENST00000555322,;	3219-3221	191	224	SUCCESS
CFL2	1073	.	GRCh37	14	35182517	35182517	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	58	96	0	ENST00000298159.6:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000298159	NM_138638.4	85	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9650.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCGTACAAA	NONE	.	.	PROSITE_profiles:PS51263,hmmpanther:PTHR11913,hmmpanther:PTHR11913:SF15,Pfam_domain:PF00241,Gene3D:3.40.20.10,SMART_domains:SM00102,Superfamily_domains:SSF55753,Prints_domain:PR00006	.	.	ENSP00000340635	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000341223	Transcript	.	.	ENSG00000165410	1875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.03)	.	COF2_HUMAN	CFL2	HGNC	Q549N0_HUMAN	.	UPI0000001236	SNV	CFL2,missense_variant,p.Tyr85Cys,ENST00000341223,;CFL2,missense_variant,p.Tyr68Cys,ENST00000556161,;CFL2,missense_variant,p.Tyr85Cys,ENST00000298159,;CFL2,missense_variant,p.Tyr68Cys,ENST00000555765,;CFL2,intron_variant,,ENST00000422678,;CFL2,intron_variant,,ENST00000554470,;	406	96	112	SUCCESS
FSCB	84075	.	GRCh37	14	44975318	44975318	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	33	0	ENST00000340446.4:c.873C>A	p.Val291=	p.V291=	ENST00000340446	NM_032135.3	291	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9679.1	873	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGACATG	NONE	.	.	.	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,synonymous_variant,p.%3D,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	1165	33	38	SUCCESS
SIX4	51804	.	GRCh37	14	61186834	61186834	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	29	130	0	ENST00000216513.4:c.1193C>G	p.Ser398Ter	p.S398*	ENST00000216513	NM_017420.4	398	tCa/tGa	0	.	.	.	.	.	C	S/*	protein_coding	YES	CCDS9749.2	1193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGATGAC	NONE	.	.	hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22	.	.	ENSP00000216513	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,stop_gained,p.Ser390Ter,ENST00000556952,;SIX4,stop_gained,p.Ser398Ter,ENST00000216513,;SIX4,3_prime_UTR_variant,,ENST00000554079,;	1253	130	157	SUCCESS
EIF2B2	8892	.	GRCh37	14	75471535	75471535	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	40	0	ENST00000266126.5:c.529T>G	p.Phe177Val	p.F177V	ENST00000266126	NM_014239.3	177	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS9836.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCTTCCTC	NONE	.	.	hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF9,Pfam_domain:PF01008,Gene3D:3.40.50.10470,Superfamily_domains:SSF100950	.	.	ENSP00000266126	.	4/8	.	.	.	.	.	.	.	.	CD067166	4/8	nonpreferredpair	ENST00000266126	Transcript	.	.	ENSG00000119718	3258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious(0)	.	EI2BB_HUMAN	EIF2B2	HGNC	Q53XC2_HUMAN	.	UPI0000000CB9	SNV	EIF2B2,missense_variant,p.Phe177Val,ENST00000266126,;EIF2B2,upstream_gene_variant,,ENST00000554748,;RP11-950C14.3,non_coding_transcript_exon_variant,,ENST00000554430,;EIF2B2,missense_variant,p.Phe168Val,ENST00000553401,;EIF2B2,missense_variant,p.Phe177Val,ENST00000556028,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000553539,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000555522,;EIF2B2,upstream_gene_variant,,ENST00000556668,;	609	40	81	SUCCESS
GPATCH2L	55668	.	GRCh37	14	76640009	76640009	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	44	0	ENST00000261530.7:c.984+41A>G		p.*328*	ENST00000261530	NM_017926.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9848.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAATATTC	NONE	.	.	.	.	.	ENSP00000261530	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000261530	Transcript	.	.	ENSG00000089916	20210	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPT2L_HUMAN	GPATCH2L	HGNC	G3V5D0_HUMAN	.	UPI000006FA38	SNV	GPATCH2L,missense_variant,p.Asn342Ser,ENST00000556663,;GPATCH2L,missense_variant,p.Asn342Ser,ENST00000557263,;GPATCH2L,intron_variant,,ENST00000554799,;GPATCH2L,intron_variant,,ENST00000312858,;GPATCH2L,intron_variant,,ENST00000261530,;GPATCH2L,non_coding_transcript_exon_variant,,ENST00000554125,;GPATCH2L,intron_variant,,ENST00000554375,;	.	44	72	SUCCESS
ADAL	161823	.	GRCh37	15	43643144	43643144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	189	0	ENST00000562188.1:c.778T>C	p.Cys260Arg	p.C260R	ENST00000562188		260	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS53936.1	697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCTGTTTG	NONE	.	.	Superfamily_domains:SSF51556,Pfam_domain:PF00962,Gene3D:3.20.20.140,hmmpanther:PTHR11409:SF21,hmmpanther:PTHR11409	.	.	ENSP00000413074	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000428046	Transcript	.	.	ENSG00000168803	31853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ADAL_HUMAN	ADAL	HGNC	.	.	UPI00017A77C0	SNV	ADAL,missense_variant,p.Cys260Arg,ENST00000422466,;ADAL,missense_variant,p.Cys233Arg,ENST00000428046,;ADAL,missense_variant,p.Cys260Arg,ENST00000562188,;ADAL,missense_variant,p.Cys74Arg,ENST00000566154,;ADAL,downstream_gene_variant,,ENST00000389651,;	1271	189	109	SUCCESS
USP3	9960	.	GRCh37	15	63796930	63796930	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	31	0	ENST00000380324.3:c.-9C>G		p.*3*	ENST00000380324	NM_006537.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32265.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCTCGTG	NONE	.	.	.	.	.	ENSP00000369681	.	1/15	.	.	.	.	.	.	.	.	.	1/15	nonpreferredpair	ENST00000380324	Transcript	.	.	ENSG00000140455	12626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP3_HUMAN	USP3	HGNC	Q9Y2R8_HUMAN,H0YM72_HUMAN,B4DWJ6_HUMAN	.	UPI0000071F2D	SNV	USP3,5_prime_UTR_variant,,ENST00000536001,;USP3,5_prime_UTR_variant,,ENST00000540797,;USP3,5_prime_UTR_variant,,ENST00000560070,;USP3,5_prime_UTR_variant,,ENST00000380324,;USP3,5_prime_UTR_variant,,ENST00000539772,;USP3,5_prime_UTR_variant,,ENST00000561442,;USP3,5_prime_UTR_variant,,ENST00000268049,;USP3,non_coding_transcript_exon_variant,,ENST00000561326,;USP3,5_prime_UTR_variant,,ENST00000557884,;USP3,5_prime_UTR_variant,,ENST00000559873,;USP3,5_prime_UTR_variant,,ENST00000558157,;USP3,upstream_gene_variant,,ENST00000559192,;	121	31	37	SUCCESS
COG7	91949	.	GRCh37	16	23409377	23409377	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1237019918	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	33	150	0	ENST00000307149.5:c.1877A>G	p.Tyr626Cys	p.Y626C	ENST00000307149	NM_153603.3	626	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10610.1	1877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTACTCG	NONE	.	.	hmmpanther:PTHR21443,Pfam_domain:PF10191	.	.	ENSP00000305442	.	14/17	.	.	.	.	.	.	.	.	.	14/17	nonpreferredpair	ENST00000307149	Transcript	.	.	ENSG00000168434	18622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	COG7_HUMAN	COG7	HGNC	.	.	UPI0000127E42	SNV	COG7,missense_variant,p.Tyr626Cys,ENST00000307149,;COG7,upstream_gene_variant,,ENST00000563164,;COG7,upstream_gene_variant,,ENST00000569635,;COG7,non_coding_transcript_exon_variant,,ENST00000567821,;COG7,upstream_gene_variant,,ENST00000561854,;COG7,upstream_gene_variant,,ENST00000566364,;	2063	150	143	SUCCESS
ITGAD	3681	.	GRCh37	16	31419146	31419146	+	synonymous_variant	Silent	SNP	G	G	A	rs141660381	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	29	76	0	ENST00000389202.2:c.918G>A	p.Ala306=	p.A306=	ENST00000389202	NM_005353.2	306	gcG/gcA	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS32438.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCCTCC	NONE	byCluster	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS50234	.	A:0.0006	ENSP00000373854	.	9/30	.	.	.	.	.	.	.	.	rs141660381	9/30	nonpreferredpair	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,synonymous_variant,p.%3D,ENST00000389202,;RP11-120K18.2,downstream_gene_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	967	76	154	SUCCESS
CDH8	1006	.	GRCh37	16	61687728	61687728	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	72	0	ENST00000577390.1:c.2184G>C	p.Arg728Ser	p.R728S	ENST00000577390	NM_001796.4	728	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS10802.1	2184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCTTAC	NONE	.	.	hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10	.	.	ENSP00000462701	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,missense_variant,p.Arg728Ser,ENST00000577390,;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	3139	73	51	SUCCESS
C16orf70	0	.	GRCh37	16	67166792	67166792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	84	194	0	ENST00000219139.3:c.428G>T	p.Trp143Leu	p.W143L	ENST00000219139	NM_025187.3	143	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS10828.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATGGACTG	NONE	.	.	hmmpanther:PTHR13465,Pfam_domain:PF03676	.	.	ENSP00000219139	.	6/16	.	.	.	.	.	.	.	.	.	6/16	nonpreferredpair	ENST00000219139	Transcript	.	.	ENSG00000125149	29564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	tolerated(0.77)	.	CP070_HUMAN	C16orf70	HGNC	H3BSG0_HUMAN	.	UPI0000137911	SNV	C16orf70,missense_variant,p.Trp143Leu,ENST00000563853,;C16orf70,missense_variant,p.Trp115Leu,ENST00000566026,;C16orf70,missense_variant,p.Trp115Leu,ENST00000569914,;C16orf70,missense_variant,p.Trp143Leu,ENST00000569600,;C16orf70,missense_variant,p.Trp143Leu,ENST00000219139,;C16orf70,non_coding_transcript_exon_variant,,ENST00000569683,;C16orf70,upstream_gene_variant,,ENST00000561683,;C16orf70,non_coding_transcript_exon_variant,,ENST00000565900,;C16orf70,non_coding_transcript_exon_variant,,ENST00000569626,;	616	194	229	SUCCESS
PDPR	55066	.	GRCh37	16	70165260	70165260	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	66	0	ENST00000288050.4:c.785C>G	p.Ala262Gly	p.A262G	ENST00000288050	NM_017990.3	262	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS45520.1	785	RADIA|MUTECT|MUSE|VARSCANS	.	ACATGCCTGCG	NONE	.	.	hmmpanther:PTHR13847:SF146,hmmpanther:PTHR13847,Gene3D:3.30.9.10,Pfam_domain:PF01266,Superfamily_domains:SSF54373	.	.	ENSP00000288050	.	8/19	.	.	.	.	.	.	.	.	.	8/19	nonpreferredpair	ENST00000288050	Transcript	.	.	ENSG00000090857	30264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.28)	.	PDPR_HUMAN	PDPR	HGNC	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN	.	UPI00001FF513	SNV	PDPR,missense_variant,p.Ala262Gly,ENST00000288050,;PDPR,missense_variant,p.Ala162Gly,ENST00000398122,;PDPR,missense_variant,p.Ala262Gly,ENST00000568530,;PDPR,upstream_gene_variant,,ENST00000562100,;PDPR,missense_variant,p.Ala262Gly,ENST00000565186,;PDPR,intron_variant,,ENST00000561920,;	1742	66	61	SUCCESS
OSGIN1	29948	.	GRCh37	16	83999421	83999421	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	46	161	0	ENST00000343939.2:c.1492G>A	p.Asp498Asn	p.D498N	ENST00000343939		498	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10939.1	1243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGATCCT	NONE	.	.	hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF15,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000355374	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000361711	Transcript	.	.	ENSG00000140961	30093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.279)	.	tolerated(0.24)	.	OSGI1_HUMAN	OSGIN1	HGNC	J3KRK7_HUMAN,H3BTF9_HUMAN	.	UPI000006CF29	SNV	OSGIN1,missense_variant,p.Asp415Asn,ENST00000361711,;OSGIN1,missense_variant,p.Asp498Asn,ENST00000343939,;OSGIN1,missense_variant,p.Asp415Asn,ENST00000393306,;OSGIN1,downstream_gene_variant,,ENST00000565123,;NECAB2,upstream_gene_variant,,ENST00000305202,;	1715	161	198	SUCCESS
ZNF469	84627	.	GRCh37	16	88498400	88498400	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	46	0	ENST00000437464.1:c.4438T>C	p.Ser1480Pro	p.S1480P	ENST00000437464	NM_001127464.1	1480	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS45544.1	4438	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTATCCCCG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ser1508Pro,ENST00000565624,;ZNF469,missense_variant,p.Ser1480Pro,ENST00000437464,;	4438	46	55	SUCCESS
USP7	7874	.	GRCh37	16	9000399	9000399	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	55	0	ENST00000344836.4:c.1312C>T	p.Gln438Ter	p.Q438*	ENST00000344836	NM_003470.2	438	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS32385.1	1312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGCAAAA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF89,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000343535	.	13/31	.	.	.	.	.	.	.	.	.	13/31	nonpreferredpair	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,stop_gained,p.Gln438Ter,ENST00000344836,;USP7,stop_gained,p.Gln339Ter,ENST00000563085,;USP7,stop_gained,p.Gln422Ter,ENST00000381886,;USP7,stop_gained,p.Gln339Ter,ENST00000535863,;USP7,stop_gained,p.Gln380Ter,ENST00000542333,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,upstream_gene_variant,,ENST00000567329,;USP7,upstream_gene_variant,,ENST00000570256,;	1511	55	36	SUCCESS
MYOCD	93649	.	GRCh37	17	12655884	12655884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	28	105	0	ENST00000343344.4:c.1279C>A	p.Pro427Thr	p.P427T	ENST00000343344		427	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54091.1	1279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACCCAAC	BUFFER|p.P328S|c.982C>T|3,BUFFER|p.P424S|c.1270C>T|3,BUFFER|p.P424S|c.1270C>T|3	.	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	10/14	.	.	.	.	.	.	.	.	.	10/14	nonpreferredpair	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.17)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Pro427Thr,ENST00000343344,;MYOCD,missense_variant,p.Pro132Thr,ENST00000443061,;MYOCD,missense_variant,p.Pro427Thr,ENST00000425538,;AC005358.1,missense_variant,p.Pro331Thr,ENST00000609971,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	1479	105	114	SUCCESS
FLII	2314	.	GRCh37	17	18154288	18154288	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1567712265	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	20	127	1	ENST00000327031.4:c.1640A>G	p.Tyr547Cys	p.Y547C	ENST00000327031	NM_002018.3	547	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11192.1	1640	RADIA|MUTECT|VARSCANS	.	TCCAGTAGTAG	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF16,Gene3D:3.40.20.10,Pfam_domain:PF00626,SMART_domains:SM00262,Superfamily_domains:SSF55753,Prints_domain:PR00597	.	.	ENSP00000324573	.	14/30	.	.	.	.	.	.	.	.	.	14/30	nonpreferredpair	ENST00000327031	Transcript	.	.	ENSG00000177731	3750	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	FLII_HUMAN	FLII	HGNC	K7EP37_HUMAN,K7EP27_HUMAN	.	UPI0000001284	SNV	FLII,missense_variant,p.Tyr547Cys,ENST00000327031,;FLII,missense_variant,p.Tyr461Cys,ENST00000379450,;FLII,missense_variant,p.Tyr536Cys,ENST00000579294,;FLII,missense_variant,p.Tyr546Cys,ENST00000578558,;FLII,missense_variant,p.Tyr492Cys,ENST00000545457,;FLII,intron_variant,,ENST00000577485,;FLII,upstream_gene_variant,,ENST00000577398,;FLII,downstream_gene_variant,,ENST00000488932,;FLII,downstream_gene_variant,,ENST00000581349,;FLII,downstream_gene_variant,,ENST00000473425,;FLII,downstream_gene_variant,,ENST00000584444,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,non_coding_transcript_exon_variant,,ENST00000496727,;FLII,downstream_gene_variant,,ENST00000478416,;FLII,upstream_gene_variant,,ENST00000493600,;FLII,downstream_gene_variant,,ENST00000488221,;FLII,downstream_gene_variant,,ENST00000581401,;FLII,upstream_gene_variant,,ENST00000459958,;FLII,upstream_gene_variant,,ENST00000487693,;FLII,downstream_gene_variant,,ENST00000461110,;FLII,upstream_gene_variant,,ENST00000580966,;FLII,upstream_gene_variant,,ENST00000577402,;FLII,downstream_gene_variant,,ENST00000577626,;FLII,upstream_gene_variant,,ENST00000493401,;FLII,upstream_gene_variant,,ENST00000465046,;FLII,upstream_gene_variant,,ENST00000487369,;FLII,upstream_gene_variant,,ENST00000474265,;FLII,upstream_gene_variant,,ENST00000580453,;	1866	128	168	SUCCESS
GPR179	440435	.	GRCh37	17	36485933	36485933	+	synonymous_variant	Silent	SNP	G	G	A	rs769135444	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	40	101	0	ENST00000342292.4:c.3519C>T	p.Ser1173=	p.S1173=	ENST00000342292	NM_001004334.2	1173	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42308.1	3519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGCTGCC	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	rs769135444	11/11	nonpreferredpair	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,synonymous_variant,p.%3D,ENST00000342292,;GPR179,upstream_gene_variant,,ENST00000584976,;	3540	101	168	SUCCESS
IKZF3	22806	.	GRCh37	17	37922298	37922298	+	synonymous_variant	Silent	SNP	G	G	A	rs765182589	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	24	112	0	ENST00000346872.3:c.1275C>T	p.Tyr425=	p.Y425=	ENST00000346872	NM_012481.4	425	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS11346.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGTAAGA	NONE	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF29	.	.	ENSP00000344544	.	8/8	.	.	.	.	.	.	.	.	rs765182589,COSM397532,COSM1382885	8/8	nonpreferredpair	ENST00000346872	Transcript	.	.	ENSG00000161405	13178	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	IKZF3_HUMAN	IKZF3	HGNC	B4DVV5_HUMAN	.	UPI000006E6CC	SNV	IKZF3,synonymous_variant,p.%3D,ENST00000351680,;IKZF3,synonymous_variant,p.%3D,ENST00000439167,;IKZF3,synonymous_variant,p.%3D,ENST00000535189,;IKZF3,synonymous_variant,p.%3D,ENST00000377944,;IKZF3,synonymous_variant,p.%3D,ENST00000377958,;IKZF3,synonymous_variant,p.%3D,ENST00000346872,;IKZF3,synonymous_variant,p.%3D,ENST00000467757,;IKZF3,synonymous_variant,p.%3D,ENST00000583368,;IKZF3,synonymous_variant,p.%3D,ENST00000377945,;IKZF3,synonymous_variant,p.%3D,ENST00000346243,;IKZF3,synonymous_variant,p.%3D,ENST00000377952,;IKZF3,synonymous_variant,p.%3D,ENST00000439016,;IKZF3,synonymous_variant,p.%3D,ENST00000394189,;IKZF3,synonymous_variant,p.%3D,ENST00000350532,;RP11-94L15.2,upstream_gene_variant,,ENST00000488188,;IKZF3,3_prime_UTR_variant,,ENST00000348427,;IKZF3,3_prime_UTR_variant,,ENST00000293068,;	1337	112	121	SUCCESS
ACLY	47	.	GRCh37	17	40028400	40028400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	65	0	ENST00000352035.2:c.2678G>A	p.Cys893Tyr	p.C893Y	ENST00000352035	NM_001096.2	893	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS11412.1	2678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGACACATC	NONE	.	.	Superfamily_domains:SSF48256,PIRSF_domain:PIRSF036511,Pfam_domain:PF00285,Gene3D:1.10.580.10,hmmpanther:PTHR23118	.	.	ENSP00000253792	.	24/29	.	.	.	.	.	.	.	.	.	24/29	nonpreferredpair	ENST00000352035	Transcript	.	.	ENSG00000131473	115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ACLY_HUMAN	ACLY	HGNC	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN	.	UPI000013CDF3	SNV	ACLY,missense_variant,p.Cys883Tyr,ENST00000353196,;ACLY,missense_variant,p.Cys893Tyr,ENST00000590151,;ACLY,missense_variant,p.Cys893Tyr,ENST00000352035,;ACLY,missense_variant,p.Cys622Tyr,ENST00000537919,;ACLY,missense_variant,p.Cys883Tyr,ENST00000393896,;ACLY,upstream_gene_variant,,ENST00000588779,;	2809	65	101	SUCCESS
MYCBPAP	84073	.	GRCh37	17	48601116	48601116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774395843	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	48	74	1	ENST00000323776.5:c.1735G>A	p.Val579Ile	p.V579I	ENST00000323776	NM_032133.4	579	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32680.2	1735	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGACGTTTTT	NONE	byFrequency	.	hmmpanther:PTHR12276:SF44,hmmpanther:PTHR12276,Pfam_domain:PF14646	.	.	ENSP00000323184	.	12/19	.	.	.	.	.	.	.	.	rs774395843	12/19	nonpreferredpair	ENST00000323776	Transcript	.	.	ENSG00000136449	19677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.5)	.	MYBPP_HUMAN	MYCBPAP	HGNC	.	.	UPI0000E5A00B	SNV	MYCBPAP,missense_variant,p.Val542Ile,ENST00000436259,;MYCBPAP,missense_variant,p.Val579Ile,ENST00000323776,;MYCBPAP,missense_variant,p.Val13Ile,ENST00000488432,;MYCBPAP,downstream_gene_variant,,ENST00000452039,;MYCBPAP,downstream_gene_variant,,ENST00000468821,;MYCBPAP,missense_variant,p.Val554Ile,ENST00000437498,;MYCBPAP,upstream_gene_variant,,ENST00000485169,;MYCBPAP,downstream_gene_variant,,ENST00000470609,;MYCBPAP,downstream_gene_variant,,ENST00000459754,;	1897	75	87	SUCCESS
LUC7L3	51747	.	GRCh37	17	48823123	48823123	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753362684	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	53	0	ENST00000240304.1:c.736C>T	p.Arg246Cys	p.R246C	ENST00000240304	NM_006107.3	246	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11573.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGCGTCTA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03194,hmmpanther:PTHR12375	.	.	ENSP00000425092	.	8/10	.	.	.	.	.	.	.	.	rs753362684	8/10	nonpreferredpair	ENST00000505658	Transcript	.	.	ENSG00000108848	24309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.11)	.	LC7L3_HUMAN	LUC7L3	HGNC	U3KQT3_HUMAN,D6RHH0_HUMAN	.	UPI00000736F2	SNV	LUC7L3,missense_variant,p.Arg246Cys,ENST00000240304,;LUC7L3,missense_variant,p.Arg246Cys,ENST00000393227,;LUC7L3,missense_variant,p.Arg246Cys,ENST00000505658,;LUC7L3,missense_variant,p.Arg170Cys,ENST00000544170,;LUC7L3,downstream_gene_variant,,ENST00000505619,;LUC7L3,upstream_gene_variant,,ENST00000503728,;LUC7L3,upstream_gene_variant,,ENST00000511974,;LUC7L3,upstream_gene_variant,,ENST00000513969,;LUC7L3,downstream_gene_variant,,ENST00000513025,;LUC7L3,downstream_gene_variant,,ENST00000510984,;LUC7L3,upstream_gene_variant,,ENST00000512549,;LUC7L3,missense_variant,p.Arg66Cys,ENST00000504065,;LUC7L3,3_prime_UTR_variant,,ENST00000508482,;LUC7L3,upstream_gene_variant,,ENST00000509487,;LUC7L3,downstream_gene_variant,,ENST00000507200,;LUC7L3,downstream_gene_variant,,ENST00000509335,;LUC7L3,downstream_gene_variant,,ENST00000508218,;LUC7L3,downstream_gene_variant,,ENST00000504563,;LUC7L3,downstream_gene_variant,,ENST00000511068,;LUC7L3,downstream_gene_variant,,ENST00000508045,;LUC7L3,downstream_gene_variant,,ENST00000507503,;	925	53	66	SUCCESS
EFCAB3	146779	.	GRCh37	17	60493468	60493468	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	41	110	0	ENST00000305286.3:c.1095C>T	p.Asp365=	p.D365=	ENST00000305286	NM_173503.3	365	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS45751.1	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGACTCTAG	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF158	.	.	ENSP00000403932	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000450662	Transcript	.	.	ENSG00000172421	26379	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB3_HUMAN	EFCAB3	HGNC	E5RJB7_HUMAN,E5RHB1_HUMAN	.	UPI0001929531	SNV	EFCAB3,synonymous_variant,p.%3D,ENST00000450662,;EFCAB3,synonymous_variant,p.%3D,ENST00000305286,;	1322	110	175	SUCCESS
TANC2	26115	.	GRCh37	17	61315394	61315394	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	7	54	0	ENST00000424789.2:c.767A>T	p.Gln256Leu	p.Q256L	ENST00000424789	NM_025185.3	256	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45754.1	767	MUTECT|MUSE	.	AGTACAGTCTA	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	6/25	.	.	.	.	.	.	.	.	.	6/25	nonpreferredpair	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.065)	.	tolerated(0.13)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Gln256Leu,ENST00000389520,;TANC2,missense_variant,p.Gln256Leu,ENST00000424789,;TANC2,missense_variant,p.Gln185Leu,ENST00000583356,;AC037445.1,intron_variant,,ENST00000581421,;	771	54	98	SUCCESS
KCNH6	81033	.	GRCh37	17	61611361	61611361	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	346	9	145	0	ENST00000583023.1:c.790C>T	p.Leu264=	p.L264=	ENST00000583023	NM_030779.3	264	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11638.1	790	MUTECT|MUSE	.	TCATCCTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	.	.	ENSP00000463533	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,synonymous_variant,p.%3D,ENST00000580652,;KCNH6,synonymous_variant,p.%3D,ENST00000581784,;KCNH6,synonymous_variant,p.%3D,ENST00000583023,;KCNH6,synonymous_variant,p.%3D,ENST00000456941,;KCNH6,synonymous_variant,p.%3D,ENST00000314672,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	801	145	356	SUCCESS
ABCA5	23461	.	GRCh37	17	67300830	67300830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	37	66	0	ENST00000392676.3:c.910T>A	p.Phe304Ile	p.F304I	ENST00000392676		304	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS11685.1	910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAAAAAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698	.	.	ENSP00000376443	.	7/39	.	.	.	.	.	.	.	.	.	7/39	nonpreferredpair	ENST00000392676	Transcript	.	.	ENSG00000154265	35	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.576)	.	deleterious(0)	.	ABCA5_HUMAN	ABCA5	HGNC	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN	.	UPI000013DD9E	SNV	ABCA5,missense_variant,p.Phe304Ile,ENST00000392676,;ABCA5,missense_variant,p.Phe304Ile,ENST00000588877,;ABCA5,missense_variant,p.Phe304Ile,ENST00000392677,;ABCA5,missense_variant,p.Phe168Ile,ENST00000589975,;ABCA5,missense_variant,p.Phe304Ile,ENST00000593153,;ABCA5,downstream_gene_variant,,ENST00000592568,;ABCA5,downstream_gene_variant,,ENST00000593253,;ABCA5,upstream_gene_variant,,ENST00000586995,;ABCA5,downstream_gene_variant,,ENST00000587607,;	975	66	104	SUCCESS
POLR2A	5430	.	GRCh37	17	7417050	7417070	+	inframe_deletion	In_Frame_Del	DEL	CCCAGCTACAGCCCCAGCTCG	CCCAGCTACAGCCCCAGCTCG	-	rs770798456	.	TCGA-FV-A496-01	TCGA-FV-A496-11	CCCAGCTACAGCCCCAGCTCG	CCCAGCTACAGCCCCAGCTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	101	9	171	0	ENST00000322644.6:c.5481_5501del	p.Ser1828_Pro1834del	p.S1828_P1834del	ENST00000322644	NM_000937.4	1823	CCCAGCTACAGCCCCAGCTCG/-	0	.	.	.	.	.	-	PSYSPSS/-	protein_coding	YES	CCDS32548.1	5467-5487	INDELOCATOR|VARSCANI	.	AGCTCACCCAGCTACAGCCCCAGCTCGCCCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_patterns:PS00115,PROSITE_patterns:PS00115,Pfam_domain:PF05001	.	.	ENSP00000314949	.	29/29	.	.	.	.	.	.	.	.	rs770798456	29/29	nonpreferredpair	ENST00000322644	Transcript	.	.	ENSG00000181222	9187	14	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPB1_HUMAN	POLR2A	HGNC	.	.	UPI0000140EB9	deletion	POLR2A,inframe_deletion,p.Ser1828_Pro1834del,ENST00000322644,;POLR2A,downstream_gene_variant,,ENST00000576553,;POLR2A,downstream_gene_variant,,ENST00000573603,;	5866-5886	171	110	SUCCESS
ST6GALNAC1	55808	.	GRCh37	17	74625422	74625422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	376	28	193	0	ENST00000156626.7:c.503G>T	p.Gly168Val	p.G168V	ENST00000156626	NM_018414.3	168	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11748.1	503	MUTECT|MUSE	.	GGCCCCCATTT	NONE	.	.	hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713	.	.	ENSP00000156626	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000156626	Transcript	.	.	ENSG00000070526	23614	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.777)	.	.	.	SIA7A_HUMAN	ST6GALNAC1	HGNC	.	.	UPI0000001C00	SNV	ST6GALNAC1,missense_variant,p.Gly168Val,ENST00000156626,;ST6GALNAC1,upstream_gene_variant,,ENST00000590784,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000590878,;ST6GALNAC1,upstream_gene_variant,,ENST00000589004,;ST6GALNAC1,downstream_gene_variant,,ENST00000590915,;ST6GALNAC1,missense_variant,p.Gly168Val,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,downstream_gene_variant,,ENST00000589813,;ST6GALNAC1,upstream_gene_variant,,ENST00000585633,;ST6GALNAC1,upstream_gene_variant,,ENST00000588375,;	703	193	404	SUCCESS
TP53	7157	.	GRCh37	17	7579380	7579380	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	59	120	0	ENST00000269305.4:c.307del	p.Tyr103ThrfsTer20	p.Y103Tfs*20	ENST00000269305	NM_001126112.2	103	Tac/ac	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS11118.1	307	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGGTAGGTTT	CODON|p.0?|c.1_1182del1182|6,CODON|p.G59fs*23|c.175_374del200|3,CODON|p.Q104*|c.310C>T|8,CODON|p.Q104*|c.310C>T|8,CODON|p.Q104*|c.310C>T|14,CODON|p.Y103*|c.309C>G|5,CODON|p.Y103*|c.309C>A|3,BUFFER|p.Y107D|c.319T>G|7,BUFFER|p.Y107D|c.319T>G|7,BUFFER|p.Y107D|c.319T>G|8,BUFFER|p.S106R|c.318C>G|3,BUFFER|p.S106R|c.318C>G|3,BUFFER|p.S106R|c.318C>G|6,BUFFER|p.G105D|c.314G>A|3,BUFFER|p.G105C|c.313G>T|7,BUFFER|p.G105R|c.313G>C|4,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|8,BUFFER|p.Y103fs*20|c.306delC|9,BUFFER|p.T102I|c.305C>T|7,BUFFER|p.K101R|c.302A>G|3,BUFFER|p.K101*|c.301A>T|3,BUFFER|p.Q100*|c.298C>T|16,BUFFER|p.Q100*|c.298C>T|3,BUFFER|p.Q100*|c.298C>T|3,BUFFER|p.S99F|c.296C>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	4/11	.	.	.	.	.	.	.	.	.	4/11	nonpreferredpair	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000508793,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000413465,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000604348,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000420246,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000269305,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000359597,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000445888,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000503591,;TP53,frameshift_variant,p.Tyr103ThrfsTer20,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	497	120	126	SUCCESS
CNDP1	84735	.	GRCh37	18	72226672	72226672	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147983814	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	30	0	ENST00000358821.3:c.268G>T	p.Ala90Ser	p.A90S	ENST00000358821	NM_032649.5	90	Gcc/Tcc	0	A:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS12007.1	268	MUTECT|MUSE	.	TGGGGGCCCGT	NONE	byCluster	.	hmmpanther:PTHR11014:SF58,hmmpanther:PTHR11014,Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187	.	A:0.0002	ENSP00000351682	.	3/12	.	.	.	.	.	.	.	.	rs147983814	3/12	nonpreferredpair	ENST00000358821	Transcript	.	.	ENSG00000150656	20675	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.967)	.	deleterious(0.02)	.	CNDP1_HUMAN	CNDP1	HGNC	.	.	UPI0000141054	SNV	CNDP1,missense_variant,p.Ala90Ser,ENST00000358821,;CNDP1,missense_variant,p.Ala47Ser,ENST00000582365,;RP11-231E4.3,downstream_gene_variant,,ENST00000583702,;CNDP1,non_coding_transcript_exon_variant,,ENST00000585136,;CNDP1,upstream_gene_variant,,ENST00000584316,;	496	30	42	SUCCESS
ZNF490	57474	.	GRCh37	19	12692141	12692141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	77	0	ENST00000311437.6:c.748T>A	p.Tyr250Asn	p.Y250N	ENST00000311437	NM_020714.2	250	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS12272.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATAGGGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF16,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000311521	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000311437	Transcript	.	.	ENSG00000188033	23705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN490_HUMAN	ZNF490	HGNC	.	.	UPI0000001C6F	SNV	ZNF490,missense_variant,p.Tyr250Asn,ENST00000311437,;ZNF490,downstream_gene_variant,,ENST00000440366,;ZNF490,downstream_gene_variant,,ENST00000465656,;ZNF490,3_prime_UTR_variant,,ENST00000414906,;CTD-2192J16.20,upstream_gene_variant,,ENST00000593682,;	871	77	56	SUCCESS
DNAJB1	3337	.	GRCh37	19	14629102	14629102	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	18	13	0	ENST00000254322.2:c.60C>T	p.Ile20=	p.I20=	ENST00000254322	NM_006145.1	20	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12312.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTGATCTC	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR24077:SF207,hmmpanther:PTHR24077,Gene3D:1.10.287.110,Pfam_domain:PF00226,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	.	.	ENSP00000254322	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000254322	Transcript	1	.	ENSG00000132002	5270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJB1_HUMAN	DNAJB1	HGNC	Q6FHS4_HUMAN,M0R1D6_HUMAN,M0R128_HUMAN,M0R080_HUMAN,M0QZD0_HUMAN,M0QYT3_HUMAN,B4DX52_HUMAN	.	UPI0000000C3A	SNV	DNAJB1,synonymous_variant,p.%3D,ENST00000254322,;DNAJB1,intron_variant,,ENST00000594099,;DNAJB1,intron_variant,,ENST00000598692,;DNAJB1,intron_variant,,ENST00000596853,;DNAJB1,intron_variant,,ENST00000596075,;DNAJB1,intron_variant,,ENST00000396969,;DNAJB1,intron_variant,,ENST00000601533,;DNAJB1,intron_variant,,ENST00000595992,;DNAJB1,upstream_gene_variant,,ENST00000598235,;DNAJB1,upstream_gene_variant,,ENST00000595139,;TECR,intron_variant,,ENST00000600076,;	131	13	25	SUCCESS
NDUFA13	51079	.	GRCh37	19	19626948	19626948	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	78	104	0	ENST00000507754.4:c.-100A>C		p.*34*	ENST00000507754				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12404.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTAGCCGT	NONE	.	.	.	.	.	ENSP00000423673	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000507754	Transcript	1	.	ENSG00000186010	17194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUAD_HUMAN	NDUFA13	HGNC	.	.	UPI00001699BB	SNV	NDUFA13,synonymous_variant,p.%3D,ENST00000252576,;NDUFA13,5_prime_UTR_variant,,ENST00000507754,;NDUFA13,upstream_gene_variant,,ENST00000428459,;NDUFA13,upstream_gene_variant,,ENST00000512771,;NDUFA13,upstream_gene_variant,,ENST00000503283,;CTC-260F20.3,upstream_gene_variant,,ENST00000555938,;TSSK6,upstream_gene_variant,,ENST00000585580,;YJEFN3,upstream_gene_variant,,ENST00000608404,;TSSK6,upstream_gene_variant,,ENST00000360913,;CTC-260F20.3,upstream_gene_variant,,ENST00000586674,;NDUFA13,5_prime_UTR_variant,,ENST00000502506,;NDUFA13,upstream_gene_variant,,ENST00000511584,;NDUFA13,upstream_gene_variant,,ENST00000511180,;TSSK6,upstream_gene_variant,,ENST00000602623,;NDUFA13,upstream_gene_variant,,ENST00000606722,;TSSK6,upstream_gene_variant,,ENST00000587522,;	385	104	170	SUCCESS
ZNF429	353088	.	GRCh37	19	21688527	21688527	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs1423626976	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	38	0	ENST00000358491.4:c.-47T>C		p.*16*	ENST00000358491	NM_001001415.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42537.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATATTGGGA	NONE	.	.	.	.	.	ENSP00000351280	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000358491	Transcript	.	.	ENSG00000197013	20817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN429_HUMAN	ZNF429	HGNC	.	.	UPI000022ABC2	SNV	ZNF429,5_prime_UTR_variant,,ENST00000358491,;ZNF429,5_prime_UTR_variant,,ENST00000597078,;LINC00664,downstream_gene_variant,,ENST00000599078,;ZNF429,non_coding_transcript_exon_variant,,ENST00000597556,;ZNF429,non_coding_transcript_exon_variant,,ENST00000596126,;ZNF429,non_coding_transcript_exon_variant,,ENST00000598747,;ZNF429,non_coding_transcript_exon_variant,,ENST00000596237,;ZNF429,intron_variant,,ENST00000594022,;	162	38	53	SUCCESS
MAG	4099	.	GRCh37	19	35800859	35800859	+	synonymous_variant	Silent	SNP	G	G	C	rs111518896	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	17	0	ENST00000392213.3:c.1314G>C	p.Pro438=	p.P438=	ENST00000392213	NM_002361.3	438	ccG/ccC	0	A:0.0005	A:0.0008	.	A:0	.	C	P	protein_coding	YES	CCDS12455.1	1314	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGGAGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Superfamily_domains:SSF48726	A:0	A:0	ENSP00000376048	A:0	8/11	.	.	.	.	.	.	.	.	rs111518896	8/11	nonpreferredpair	ENST00000392213	Transcript	.	A:0.0002	ENSG00000105695	6783	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	MAG_HUMAN	MAG	HGNC	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN	.	UPI000012EB2F	SNV	MAG,synonymous_variant,p.%3D,ENST00000392213,;MAG,synonymous_variant,p.%3D,ENST00000537831,;MAG,synonymous_variant,p.%3D,ENST00000361922,;MAG,non_coding_transcript_exon_variant,,ENST00000593348,;MAG,upstream_gene_variant,,ENST00000597162,;	1473	17	25	SUCCESS
RASGRP4	115727	.	GRCh37	19	38912788	38912788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	55	0	ENST00000587738.1:c.29C>T	p.Ser10Phe	p.S10F	ENST00000587738		10	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS46068.1	29	MUTECT|MUSE	.	GGTGGGACTTC	NONE	.	.	hmmpanther:PTHR23113:SF157,hmmpanther:PTHR23113	.	.	ENSP00000465772	.	2/17	.	.	.	.	.	.	.	.	.	2/17	nonpreferredpair	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.62)	.	deleterious(0)	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,missense_variant,p.Ser10Phe,ENST00000454404,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000426920,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000586305,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000293062,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000587738,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000587753,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000433821,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000589474,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000589358,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;	100	55	98	SUCCESS
CYP2A7	1549	.	GRCh37	19	41387953	41387953	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	119	171	0	ENST00000301146.4:c.163T>A	p.Cys55Ser	p.C55S	ENST00000301146	NM_000764.2	55	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12569.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACATATGT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000301146	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000301146	Transcript	.	.	ENSG00000198077	2611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.43)	.	CP2A7_HUMAN	CYP2A7	HGNC	.	.	UPI000013E6D5	SNV	CYP2A7,missense_variant,p.Cys55Ser,ENST00000291764,;CYP2A7,missense_variant,p.Cys55Ser,ENST00000301146,;CYP2A7,missense_variant,p.Cys55Ser,ENST00000594332,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,upstream_gene_variant,,ENST00000598264,;	705	172	261	SUCCESS
CABP5	56344	.	GRCh37	19	48543934	48543934	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs751526865	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	26	84	0	ENST00000293255.2:c.166C>G	p.Leu56Val	p.L56V	ENST00000293255	NM_019855.4	56	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS12709.1	166	RADIA|MUTECT|MUSE|VARSCANS	.	CATGAGATTCC	NONE	byFrequency	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF60,hmmpanther:PTHR23050,Pfam_domain:PF00036,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000293255	.	3/6	.	.	.	.	.	.	.	.	rs751526865	3/6	nonpreferredpair	ENST00000293255	Transcript	.	.	ENSG00000105507	13714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	tolerated(0.41)	.	CABP5_HUMAN	CABP5	HGNC	.	.	UPI0000126D6A	SNV	CABP5,missense_variant,p.Leu56Val,ENST00000293255,;CABP5,downstream_gene_variant,,ENST00000602032,;	297	84	208	SUCCESS
PRKCG	5582	.	GRCh37	19	54407908	54407908	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	15	66	0	ENST00000263431.3:c.1676A>T	p.Asp559Val	p.D559V	ENST00000263431	NM_002739.3	559	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS12867.1	1676	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGACGAGG	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000263431	.	16/18	.	.	.	.	.	.	.	.	.	16/18	nonpreferredpair	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,missense_variant,p.Asp559Val,ENST00000540413,;PRKCG,missense_variant,p.Asp559Val,ENST00000263431,;PRKCG,intron_variant,,ENST00000542049,;CACNG7,upstream_gene_variant,,ENST00000391767,;CACNG7,upstream_gene_variant,,ENST00000468076,;	1958	66	132	SUCCESS
TSEN34	79042	.	GRCh37	19	54694193	54694193	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs778937826	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	24	55	0	ENST00000302937.4:c.-113C>T		p.*38*	ENST00000302937	NM_024075.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42609.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCCACCT	NONE	.	389	.	.	.	ENSP00000379667	.	.	.	.	.	.	.	.	.	.	rs778937826	.	nonpreferredpair	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,5_prime_UTR_variant,,ENST00000456872,;TSEN34,5_prime_UTR_variant,,ENST00000429671,;TSEN34,5_prime_UTR_variant,,ENST00000302937,;TSEN34,intron_variant,,ENST00000455798,;TSEN34,upstream_gene_variant,,ENST00000396383,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;TSEN34,upstream_gene_variant,,ENST00000396388,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;TSEN34,upstream_gene_variant,,ENST00000496583,;	.	55	123	SUCCESS
LILRA2	11027	.	GRCh37	19	55086870	55086870	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762258442	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	54	156	0	ENST00000251377.3:c.803G>T	p.Gly268Val	p.G268V	ENST00000251377		268	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46179.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGTTGGC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251377	.	6/9	.	.	.	.	.	.	.	.	rs762258442	6/9	nonpreferredpair	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	tolerated(0.33)	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,missense_variant,p.Gly268Val,ENST00000251376,;LILRA2,missense_variant,p.Gly268Val,ENST00000391738,;LILRA2,missense_variant,p.Gly256Val,ENST00000391737,;LILRA2,missense_variant,p.Gly268Val,ENST00000439534,;LILRA2,missense_variant,p.Gly268Val,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	936	156	237	SUCCESS
ZNF776	284309	.	GRCh37	19	58264871	58264871	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755162710	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	81	0	ENST00000317178.5:c.373G>A	p.Asp125Asn	p.D125N	ENST00000317178	NM_173632.3	125	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGACGAT	NONE	byFrequency	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF21	.	.	ENSP00000472160	.	3/3	.	.	.	.	.	.	.	.	rs755162710	3/3	nonpreferredpair	ENST00000594684	Transcript	.	.	ENSG00000269026	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0.02)	.	.	AC003006.7	Clone_based_vega_gene	M0R1X1_HUMAN	.	UPI0002A47213	SNV	AC003006.7,missense_variant,p.Asp125Asn,ENST00000594684,;ZNF776,missense_variant,p.Asp125Asn,ENST00000317178,;ZNF776,intron_variant,,ENST00000451849,;ZNF776,downstream_gene_variant,,ENST00000431353,;ZNF776,upstream_gene_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,;	540	81	94	SUCCESS
ZNF776	284309	.	GRCh37	19	58265306	58265306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	63	0	ENST00000317178.5:c.808G>A	p.Asp270Asn	p.D270N	ENST00000317178	NM_173632.3	270	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12962.2	808	RADIA|MUTECT|MUSE|VARSCANS	.	AATGTGATGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF21,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321812	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000317178	Transcript	.	.	ENSG00000152443	26765	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.484)	.	deleterious(0.02)	.	ZN776_HUMAN	ZNF776	HGNC	B2RN90_HUMAN	.	UPI000022AA12	SNV	ZNF776,missense_variant,p.Asp270Asn,ENST00000317178,;ZNF776,intron_variant,,ENST00000451849,;AC003006.7,downstream_gene_variant,,ENST00000594684,;ZNF776,downstream_gene_variant,,ENST00000431353,;ZNF776,upstream_gene_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,;	1071	63	71	SUCCESS
ZNF584	201514	.	GRCh37	19	58929119	58929119	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	28	111	0	ENST00000306910.4:c.1234G>A	p.Asp412Asn	p.D412N	ENST00000306910	NM_173548.1	412	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12979.1	1234	RADIA|MUTECT|MUSE	.	AGGAGGACAGG	NONE	.	.	.	.	.	ENSP00000306756	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000306910	Transcript	.	.	ENSG00000171574	27318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.456)	.	tolerated(0.17)	.	ZN584_HUMAN	ZNF584	HGNC	M0R0A3_HUMAN	.	UPI000007465A	SNV	ZNF584,missense_variant,p.Asp412Asn,ENST00000306910,;ZNF584,missense_variant,p.Asp367Asn,ENST00000593920,;ZNF584,3_prime_UTR_variant,,ENST00000599238,;ZNF584,downstream_gene_variant,,ENST00000596281,;ZNF584,downstream_gene_variant,,ENST00000322834,;ZNF584,downstream_gene_variant,,ENST00000598901,;CTD-2619J13.16,upstream_gene_variant,,ENST00000596296,;ZNF584,downstream_gene_variant,,ENST00000594993,;ZNF584,downstream_gene_variant,,ENST00000596921,;ZNF584,non_coding_transcript_exon_variant,,ENST00000599145,;	1757	111	228	SUCCESS
SNAPC2	6618	.	GRCh37	19	7987327	7987327	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	73	0	ENST00000221573.6:c.686-3T>G		p.X229_splice	ENST00000221573	NM_003083.3	229		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12190.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTAGAGT	NONE	.	.	.	.	.	ENSP00000221573	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000221573	Transcript	.	.	ENSG00000104976	11135	.	.	LOW	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNPC2_HUMAN	SNAPC2	HGNC	M0R1L8_HUMAN	.	UPI0000000CBC	SNV	SNAPC2,synonymous_variant,p.%3D,ENST00000595637,;SNAPC2,splice_region_variant,,ENST00000597584,;SNAPC2,splice_region_variant,,ENST00000221573,;TIMM44,downstream_gene_variant,,ENST00000595565,;TGFBR3L,downstream_gene_variant,,ENST00000565886,;TIMM44,downstream_gene_variant,,ENST00000270538,;CTXN1,downstream_gene_variant,,ENST00000318978,;CTD-3193O13.8,upstream_gene_variant,,ENST00000594308,;CTD-3193O13.1,upstream_gene_variant,,ENST00000564226,;SNAPC2,downstream_gene_variant,,ENST00000593598,;TGFBR3L,downstream_gene_variant,,ENST00000564348,;SNAPC2,downstream_gene_variant,,ENST00000595035,;TIMM44,downstream_gene_variant,,ENST00000598968,;SNAPC2,downstream_gene_variant,,ENST00000596520,;TIMM44,downstream_gene_variant,,ENST00000595831,;TGFBR3L,downstream_gene_variant,,ENST00000566166,;TIMM44,downstream_gene_variant,,ENST00000599939,;TIMM44,downstream_gene_variant,,ENST00000599650,;	.	73	66	SUCCESS
HNRNPCL1	343069	.	GRCh37	1	12908257	12908257	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	6	153	0	ENST00000317869.6:c.-115C>T		p.*39*	ENST00000317869	NM_001013631.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30591.1	.	MUTECT|MUSE	.	GGCTCGAGGCC	NONE	.	.	.	.	.	ENSP00000365370	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000317869	Transcript	.	.	ENSG00000179172	29295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HNRCL_HUMAN	HNRNPCL1	HGNC	.	.	UPI0000134525	SNV	HNRNPCL1,5_prime_UTR_variant,,ENST00000317869,;	112	153	178	SUCCESS
NBPF9	400818	.	GRCh37	1	144814737	144814737	+	synonymous_variant	Silent	SNP	G	G	A	rs587709831	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	14	94	0	ENST00000375552.4:c.372G>A	p.Lys124=	p.K124=	ENST00000375552	NM_001277444.1	124	aaG/aaA	0	.	T:0	.	T:0	.	A	K	protein_coding	YES	.	372	MUSE|VARSCANS	.	GAGAAGTTGCG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199	T:0	.	ENSP00000364702	T:0.001	3/15	.	.	.	.	.	.	.	.	rs587709831	3/15	nonpreferredpair	ENST00000375552	Transcript	.	T:0.0002	ENSG00000168614	31991	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	.	NBPF9	HGNC	Q5TB04_HUMAN,I1VE14_HUMAN	.	UPI000059D038	SNV	NBPF9,synonymous_variant,p.%3D,ENST00000375552,;NBPF9,synonymous_variant,p.%3D,ENST00000338347,;NBPF9,synonymous_variant,p.%3D,ENST00000440491,;NBPF9,5_prime_UTR_variant,,ENST00000281815,;NBPF9,non_coding_transcript_exon_variant,,ENST00000496755,;NBPF9,non_coding_transcript_exon_variant,,ENST00000465793,;NBPF9,non_coding_transcript_exon_variant,,ENST00000491652,;NBPF9,non_coding_transcript_exon_variant,,ENST00000468645,;NBPF9,non_coding_transcript_exon_variant,,ENST00000471873,;NBPF9,non_coding_transcript_exon_variant,,ENST00000483630,;NBPF9,upstream_gene_variant,,ENST00000484811,;NBPF9,upstream_gene_variant,,ENST00000472811,;	371	94	187	SUCCESS
HORMAD1	84072	.	GRCh37	1	150680868	150680868	+	synonymous_variant	Silent	SNP	G	G	A	rs368484414	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	21	103	0	ENST00000361824.2:c.411C>T	p.Asn137=	p.N137=	ENST00000361824	NM_032132.4	137	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS967.1	411	RADIA|MUTECT|MUSE|VARSCANS	.	GATTCGTTGCT	BUFFER|p.N134S|c.401A>G|3	byFrequency|byCluster	.	Superfamily_domains:0040144,Gene3D:1go4B00,Pfam_domain:PF02301,hmmpanther:PTHR21518:SF4,hmmpanther:PTHR21518,PROSITE_profiles:PS50815	.	A:0.0001	ENSP00000355167	.	9/15	.	.	.	.	.	.	.	.	rs368484414	9/15	nonpreferredpair	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	SNV	HORMAD1,synonymous_variant,p.%3D,ENST00000361824,;HORMAD1,synonymous_variant,p.%3D,ENST00000368993,;HORMAD1,synonymous_variant,p.%3D,ENST00000442853,;HORMAD1,synonymous_variant,p.%3D,ENST00000368987,;HORMAD1,synonymous_variant,p.%3D,ENST00000322343,;HORMAD1,synonymous_variant,p.%3D,ENST00000368995,;HORMAD1,upstream_gene_variant,,ENST00000470397,;HORMAD1,upstream_gene_variant,,ENST00000486497,;	517	103	156	SUCCESS
NUP210L	91181	.	GRCh37	1	154018769	154018769	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	8	124	0	ENST00000368559.3:c.3560C>T	p.Thr1187Ile	p.T1187I	ENST00000368559	NM_207308.2	1187	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41399.1	3560	MUTECT|MUSE	.	CCTTGGTAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	26/40	.	.	.	.	.	.	.	.	.	26/40	nonpreferredpair	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.693)	.	deleterious(0)	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,missense_variant,p.Thr120Ile,ENST00000368553,;NUP210L,missense_variant,p.Thr1187Ile,ENST00000368559,;NUP210L,missense_variant,p.Thr1187Ile,ENST00000271854,;	3632	124	188	SUCCESS
FCRL1	115350	.	GRCh37	1	157771741	157771741	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200955967	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	31	113	0	ENST00000368176.3:c.850G>A	p.Ala284Thr	p.A284T	ENST00000368176	NM_001159398.1	284	Gcc/Acc	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS1170.1	850	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCCCCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	.	ENSP00000357158	T:0.001	5/11	.	.	.	.	.	.	.	.	rs200955967,COSM1335096,COSM1335097	5/11	nonpreferredpair	ENST00000368176	Transcript	.	T:0.0002	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.411)	T:0	tolerated(0.1)	0,1,1	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Ala284Thr,ENST00000368176,;FCRL1,missense_variant,p.Ala284Thr,ENST00000358292,;FCRL1,missense_variant,p.Ala284Thr,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,downstream_gene_variant,,ENST00000480310,;FCRL1,upstream_gene_variant,,ENST00000495126,;	918	113	269	SUCCESS
CACNA1E	777	.	GRCh37	1	181700351	181700351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	68	171	0	ENST00000367573.2:c.2281C>A	p.Pro761Thr	p.P761T	ENST00000367573	NM_001205293.1	761	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS55664.1	2281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCCACGC	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	19/48	.	.	.	.	.	.	.	.	.	19/48	nonpreferredpair	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	tolerated(0.06)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Pro368Thr,ENST00000367567,;CACNA1E,missense_variant,p.Pro712Thr,ENST00000357570,;CACNA1E,missense_variant,p.Pro761Thr,ENST00000367573,;CACNA1E,missense_variant,p.Pro761Thr,ENST00000367570,;CACNA1E,intron_variant,,ENST00000358338,;CACNA1E,intron_variant,,ENST00000360108,;CACNA1E,intron_variant,,ENST00000526775,;	2281	171	362	SUCCESS
SLC26A9	115019	.	GRCh37	1	205890933	205890933	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1358483614	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	49	76	0	ENST00000367135.3:c.1816C>T	p.Pro606Ser	p.P606S	ENST00000367135	NM_052934.3	606	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30989.1	1816	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGGGGCGCAT	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF17,hmmpanther:PTHR11814,TIGRFAM_domain:TIGR00815,Pfam_domain:PF01740	.	.	ENSP00000356102	.	17/22	.	.	.	.	.	.	.	.	.	17/22	nonpreferredpair	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(1)	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,missense_variant,p.Pro606Ser,ENST00000367135,;SLC26A9,missense_variant,p.Pro606Ser,ENST00000340781,;SLC26A9,missense_variant,p.Pro606Ser,ENST00000367134,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;SLC26A9,downstream_gene_variant,,ENST00000461505,;	1930	76	143	SUCCESS
SLC30A10	55532	.	GRCh37	1	220089062	220089067	+	inframe_deletion	In_Frame_Del	DEL	AAGTCC	AAGTCC	-	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	AAGTCC	AAGTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	194	17	153	0	ENST00000366926.3:c.1182_1187del	p.Asp395_Leu396del	p.D395_L396del	ENST00000366926	NM_018713.2	394	aaGGACTTa/aaa	0	.	.	.	.	.	-	KDL/K	protein_coding	YES	CCDS31026.1	1182-1187	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAGTAAGTCCTTCTG	NONE	.	.	hmmpanther:PTHR11562:SF14,hmmpanther:PTHR11562	.	.	ENSP00000355893	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000366926	Transcript	.	.	ENSG00000196660	25355	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNT10_HUMAN	SLC30A10	HGNC	B3KR19_HUMAN	.	UPI000040E993	deletion	SLC30A10,inframe_deletion,p.Asp150_Leu151del,ENST00000536446,;SLC30A10,inframe_deletion,p.Asp395_Leu396del,ENST00000366926,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	1344-1349	153	211	SUCCESS
TARBP1	6894	.	GRCh37	1	234536930	234536930	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	40	71	0	ENST00000040877.1:c.4068A>T	p.Leu1356=	p.L1356=	ENST00000040877	NM_005646.3	1356	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1601.1	4068	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCTCTAGACA	NONE	.	.	PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11	.	.	ENSP00000040877	.	25/30	.	.	.	.	.	.	.	.	.	25/30	nonpreferredpair	ENST00000040877	Transcript	.	.	ENSG00000059588	11568	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TARB1_HUMAN	TARBP1	HGNC	.	.	UPI000006DB0F	SNV	TARBP1,synonymous_variant,p.%3D,ENST00000040877,;TARBP1,non_coding_transcript_exon_variant,,ENST00000481183,;TARBP1,non_coding_transcript_exon_variant,,ENST00000483404,;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000468077,;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,;TARBP1,upstream_gene_variant,,ENST00000484454,;	4068	71	69	SUCCESS
PPCS	79717	.	GRCh37	1	42922564	42922564	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372401432	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	26	0	ENST00000372561.3:c.328C>T	p.Pro110Ser	p.P110S	ENST00000372561	NM_024664.2	110	Cca/Tca	0	T:0	.	.	.	.	T	P/S	protein_coding	YES	CCDS41311.1	328	MUTECT|MUSE	.	CGGGCCCAGCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12290:SF2,hmmpanther:PTHR12290,Gene3D:3.40.50.10300,Superfamily_domains:SSF102645	.	T:0.0001	ENSP00000361642	.	1/3	.	.	.	.	.	.	.	.	rs372401432	1/3	nonpreferredpair	ENST00000372561	Transcript	.	.	ENSG00000127125	25686	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.3)	.	PPCS_HUMAN	PPCS	HGNC	.	.	UPI000035B21F	SNV	PPCS,missense_variant,p.Pro110Ser,ENST00000372561,;PPCS,missense_variant,p.Pro110Ser,ENST00000372560,;PPCS,intron_variant,,ENST00000455780,;PPCS,intron_variant,,ENST00000372562,;PPCS,intron_variant,,ENST00000372556,;ZMYND12,upstream_gene_variant,,ENST00000372565,;ZMYND12,upstream_gene_variant,,ENST00000433602,;PPCS,non_coding_transcript_exon_variant,,ENST00000471420,;PPCS,non_coding_transcript_exon_variant,,ENST00000472013,;ZMYND12,upstream_gene_variant,,ENST00000461083,;PPCS,upstream_gene_variant,,ENST00000482168,;PPCS,upstream_gene_variant,,ENST00000469615,;	335	26	38	SUCCESS
AJAP1	55966	.	GRCh37	1	4772487	4772487	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753347923	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	38	0	ENST00000378190.3:c.557C>T	p.Thr186Met	p.T186M	ENST00000378190	NM_001042478.1	186	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS54.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACGGGGG	NONE	byFrequency	.	Pfam_domain:PF15298,hmmpanther:PTHR32422	.	.	ENSP00000367433	.	2/6	.	.	.	.	.	.	.	.	rs753347923	2/6	nonpreferredpair	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,missense_variant,p.Thr186Met,ENST00000378191,;AJAP1,missense_variant,p.Thr186Met,ENST00000378190,;AJAP1,downstream_gene_variant,,ENST00000466761,;	938	38	33	SUCCESS
LRP8	7804	.	GRCh37	1	53727880	53727880	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	38	117	0	ENST00000306052.6:c.1775-1G>A		p.X592_splice	ENST00000306052	NM_004631.4	592		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS578.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCTTGGG	NONE	.	.	.	.	.	ENSP00000303634	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	HIGH	11/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,splice_acceptor_variant,,ENST00000465675,;LRP8,splice_acceptor_variant,,ENST00000371454,;LRP8,splice_acceptor_variant,,ENST00000354412,;LRP8,splice_acceptor_variant,,ENST00000306052,;LRP8,splice_acceptor_variant,,ENST00000347547,;LRP8,downstream_gene_variant,,ENST00000475501,;LRP8,splice_acceptor_variant,,ENST00000460214,;LRP8,splice_acceptor_variant,,ENST00000480045,;LRP8,splice_acceptor_variant,,ENST00000481431,;LRP8,splice_acceptor_variant,,ENST00000459674,;LRP8,upstream_gene_variant,,ENST00000529670,;	.	117	140	SUCCESS
CAMTA1	23261	.	GRCh37	1	7724692	7724692	+	synonymous_variant	Silent	SNP	G	G	T	rs567138522	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	73	74	1	ENST00000303635.7:c.2085G>T	p.Ser695=	p.S695=	ENST00000303635	NM_015215.2	695	tcG/tcT	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS30576.1	2085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGCAGGC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	A:0	.	ENSP00000306522	A:0	9/23	.	.	.	.	.	.	.	.	rs567138522	9/23	nonpreferredpair	ENST00000303635	Transcript	.	A:0.0006	ENSG00000171735	18806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0031	.	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,synonymous_variant,p.%3D,ENST00000303635,;CAMTA1,synonymous_variant,p.%3D,ENST00000439411,;	2292	75	105	SUCCESS
TGIF2	60436	.	GRCh37	20	35219383	35219383	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	51	0	ENST00000373872.4:c.263C>T	p.Pro88Leu	p.P88L	ENST00000373872	NM_021809.6	88	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13278.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCTAATC	NONE	.	.	hmmpanther:PTHR11850,Superfamily_domains:SSF46689	.	.	ENSP00000362981	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000373874	Transcript	.	.	ENSG00000118707	15764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	TGIF2_HUMAN	TGIF2	HGNC	H0YKN5_HUMAN	.	UPI0000136CC1	SNV	TGIF2,missense_variant,p.Pro71Leu,ENST00000557885,;TGIF2,missense_variant,p.Pro88Leu,ENST00000560025,;TGIF2,missense_variant,p.Pro88Leu,ENST00000558028,;TGIF2,missense_variant,p.Pro88Leu,ENST00000373872,;TGIF2,missense_variant,p.Pro88Leu,ENST00000373874,;TGIF2,intron_variant,,ENST00000561398,;TGIF2,intron_variant,,ENST00000558465,;TGIF2-C20orf24,intron_variant,,ENST00000558530,;RP5-977B1.11,intron_variant,,ENST00000561134,;	462	51	84	SUCCESS
HSPA12B	116835	.	GRCh37	20	3728929	3728929	+	synonymous_variant	Silent	SNP	G	G	A	rs775745835	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	42	0	ENST00000254963.2:c.741G>A	p.Ser247=	p.S247=	ENST00000254963	NM_052970.4	247	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13061.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGGTATA	NONE	.	.	hmmpanther:PTHR14187:SF39,hmmpanther:PTHR14187,Gene3D:3.30.420.40,Superfamily_domains:SSF53067	.	.	ENSP00000254963	.	8/13	.	.	.	.	.	.	.	.	rs775745835	8/13	nonpreferredpair	ENST00000254963	Transcript	.	.	ENSG00000132622	16193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS12B_HUMAN	HSPA12B	HGNC	Q5JX83_HUMAN,B7ZLP2_HUMAN,B4DLR4_HUMAN	.	UPI00001285E5	SNV	HSPA12B,synonymous_variant,p.%3D,ENST00000542646,;HSPA12B,synonymous_variant,p.%3D,ENST00000254963,;HSPA12B,synonymous_variant,p.%3D,ENST00000399701,;	886	42	75	SUCCESS
ZNF335	63925	.	GRCh37	20	44588920	44588920	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	9	90	0	ENST00000322927.2:c.1947C>T	p.Phe649=	p.F649=	ENST00000322927	NM_022095.3	649	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS13389.1	1947	MUTECT|MUSE	.	CATTTGAAGGG	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403,PROSITE_profiles:PS50157	.	.	ENSP00000325326	.	14/28	.	.	.	.	.	.	.	.	.	14/28	nonpreferredpair	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,synonymous_variant,p.%3D,ENST00000322927,;ZNF335,synonymous_variant,p.%3D,ENST00000426788,;ZNF335,downstream_gene_variant,,ENST00000475002,;	2048	90	160	SUCCESS
UFD1L	0	.	GRCh37	22	19463069	19463069	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	22	104	0	ENST00000263202.10:c.60C>G	p.Ser20=	p.S20=	ENST00000263202	NM_005659.6	20	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS13761.1	60	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGGAGAA	NONE	.	.	hmmpanther:PTHR12555,Pfam_domain:PF03152	.	.	ENSP00000263202	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000263202	Transcript	.	.	ENSG00000070010	12520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UFD1_HUMAN	UFD1L	HGNC	Q541A5_HUMAN,C9J7C8_HUMAN,C9J6N9_HUMAN	.	UPI0000000A0D	SNV	UFD1L,synonymous_variant,p.%3D,ENST00000399523,;UFD1L,synonymous_variant,p.%3D,ENST00000263202,;UFD1L,synonymous_variant,p.%3D,ENST00000360834,;UFD1L,synonymous_variant,p.%3D,ENST00000494054,;UFD1L,synonymous_variant,p.%3D,ENST00000421968,;UFD1L,intron_variant,,ENST00000474226,;UFD1L,intron_variant,,ENST00000447868,;CDC45,upstream_gene_variant,,ENST00000438587,;CDC45,upstream_gene_variant,,ENST00000407835,;CDC45,upstream_gene_variant,,ENST00000263201,;CDC45,upstream_gene_variant,,ENST00000437685,;CDC45,upstream_gene_variant,,ENST00000455750,;CDC45,upstream_gene_variant,,ENST00000404724,;UFD1L,non_coding_transcript_exon_variant,,ENST00000484101,;CDC45,upstream_gene_variant,,ENST00000483431,;UFD1L,non_coding_transcript_exon_variant,,ENST00000489406,;UFD1L,non_coding_transcript_exon_variant,,ENST00000459854,;CDC45,upstream_gene_variant,,ENST00000487669,;CDC45,upstream_gene_variant,,ENST00000491520,;	190	104	129	SUCCESS
RFPL3	10738	.	GRCh37	22	32756294	32756294	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780270312	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	70	232	0	ENST00000249007.4:c.429C>A	p.Asp143Glu	p.D143E	ENST00000249007	NM_001098535.1	143	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS43011.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGACCTCAG	NONE	byFrequency	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,PROSITE_profiles:PS50188	.	.	ENSP00000249007	.	2/2	.	.	.	.	.	.	.	.	rs780270312	2/2	nonpreferredpair	ENST00000249007	Transcript	.	.	ENSG00000128276	9980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	RFPL3_HUMAN	RFPL3	HGNC	.	.	UPI000013CC68	SNV	RFPL3,missense_variant,p.Asp143Glu,ENST00000249007,;RFPL3,missense_variant,p.Asp114Glu,ENST00000397468,;RFPL3,missense_variant,p.Asp114Glu,ENST00000382088,;RFPL3S,3_prime_UTR_variant,,ENST00000400234,;RFPL3S,3_prime_UTR_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	634	232	314	SUCCESS
FBLN1	2192	.	GRCh37	22	45939311	45939311	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775398109	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	35	0	ENST00000327858.6:c.1226G>A	p.Arg409His	p.R409H	ENST00000327858	NM_006486.2	409	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14067.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCCTGT	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000331544	.	11/17	.	.	.	.	.	.	.	.	rs775398109	11/17	nonpreferredpair	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0.01)	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Arg447His,ENST00000402984,;FBLN1,missense_variant,p.Arg409His,ENST00000262722,;FBLN1,missense_variant,p.Arg409His,ENST00000340923,;FBLN1,missense_variant,p.Arg409His,ENST00000348697,;FBLN1,missense_variant,p.Arg409His,ENST00000327858,;FBLN1,missense_variant,p.Arg409His,ENST00000442170,;FBLN1,non_coding_transcript_exon_variant,,ENST00000476366,;FBLN1,downstream_gene_variant,,ENST00000460538,;FBLN1,downstream_gene_variant,,ENST00000437711,;	1321	35	48	SUCCESS
RGPD4	285190	.	GRCh37	2	108499260	108499260	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs570292087	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	593	152	599	1	ENST00000408999.3:c.5197C>A	p.Leu1733Ile	p.L1733I	ENST00000408999	NM_182588.2	1733	Ctt/Att	0	.	G:0	.	G:0	.	A	L/I	protein_coding	YES	CCDS46381.1	5197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTTCCT	NONE	by1000G	.	PROSITE_profiles:PS50913,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF01465,Gene3D:1uptF00,SMART_domains:SM00755	G:0	.	ENSP00000386810	G:0	22/23	.	.	.	.	.	.	.	.	rs570292087,COSM1005033	22/23	nonpreferredpair	ENST00000408999	Transcript	.	G:0.0002	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.694)	G:0.001	deleterious_low_confidence(0)	0,1	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Leu1733Ile,ENST00000408999,;RGPD4,missense_variant,p.Leu1733Ile,ENST00000354986,;	5274	600	745	SUCCESS
LRP1B	53353	.	GRCh37	2	141128766	141128766	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	33	219	0	ENST00000389484.3:c.10857T>G	p.Cys3619Trp	p.C3619W	ENST00000389484	NM_018557.2	3619	tgT/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS2182.1	10857	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCACAATC	NONE	.	.	PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	70/91	.	.	.	.	.	.	.	.	.	70/91	nonpreferredpair	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.892)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Cys3619Trp,ENST00000389484,;	11829	219	228	SUCCESS
NEB	4703	.	GRCh37	2	152466364	152466364	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752089716	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	42	132	0	ENST00000172853.10:c.11560G>C	p.Asp3854His	p.D3854H	ENST00000172853		3854	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS54407.1	12289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCGTTTT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	81/182	.	.	.	.	.	.	.	.	rs752089716,COSM1631326,COSM1631324,COSM1631325	81/182	nonpreferredpair	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.997)	.	.	0,1,1,1	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Asp4097His,ENST00000603639,;NEB,missense_variant,p.Asp3854His,ENST00000172853,;NEB,missense_variant,p.Asp4097His,ENST00000427231,;NEB,missense_variant,p.Asp4097His,ENST00000397345,;NEB,missense_variant,p.Asp4097His,ENST00000604864,;NEB,missense_variant,p.Asp3854His,ENST00000409198,;	12492	132	194	SUCCESS
SCN9A	6335	.	GRCh37	2	167056365	167056366	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	104	42	78	0	ENST00000303354.6:c.4786_4787del	p.Leu1596SerfsTer2	p.L1596Sfs*2	ENST00000303354		1596	CTa/a	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS46441.1	4750-4751	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGCTAGAAACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	27/27	.	.	.	.	.	.	.	.	.	27/27	nonpreferredpair	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	deletion	SCN9A,frameshift_variant,p.Leu1584SerfsTer2,ENST00000409672,;SCN9A,frameshift_variant,p.Leu1596SerfsTer2,ENST00000375387,;SCN9A,frameshift_variant,p.Leu1595SerfsTer2,ENST00000409435,;SCN9A,frameshift_variant,p.Leu1596SerfsTer2,ENST00000303354,;AC010127.3,intron_variant,,ENST00000447809,;	5097-5098	78	146	SUCCESS
NBEAL1	65065	.	GRCh37	2	204067444	204067444	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	6	89	0	ENST00000449802.1:c.7359A>T	p.Gly2453=	p.G2453=	ENST00000449802	NM_001114132.1	2453	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46495.1	7359	MUTECT|MUSE	.	TGTGGAATACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000399903	.	50/55	.	.	.	.	.	.	.	.	.	50/55	nonpreferredpair	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,synonymous_variant,p.%3D,ENST00000449802,;NBEAL1,synonymous_variant,p.%3D,ENST00000414576,;	7692	89	110	SUCCESS
CCDC108	0	.	GRCh37	2	219874178	219874178	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	96	0	ENST00000341552.5:c.4457C>T	p.Ser1486Phe	p.S1486F	ENST00000341552	NM_194302.3	1486	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS2430.2	4457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGACACC	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	28/35	.	.	.	.	.	.	.	.	.	28/35	nonpreferredpair	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,missense_variant,p.Ser1486Phe,ENST00000453220,;CCDC108,missense_variant,p.Ser1486Phe,ENST00000341552,;CCDC108,missense_variant,p.Ser1486Phe,ENST00000441968,;AC097468.4,intron_variant,,ENST00000441450,;	4541	96	83	SUCCESS
UGT1A4	54657	.	GRCh37	2	234628158	234628158	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754670633	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	77	259	0	ENST00000373409.3:c.692A>G	p.Tyr231Cys	p.Y231C	ENST00000373409	NM_007120.2	231	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33405.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTATGCAA	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926	.	.	ENSP00000362508	.	1/5	.	.	.	.	.	.	.	.	rs754670633	1/5	nonpreferredpair	ENST00000373409	Transcript	.	.	ENSG00000244474	12536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	UD14_HUMAN	UGT1A4	HGNC	Q8WX88_HUMAN,Q53QD2_HUMAN,B8K2E8_HUMAN	.	UPI0000001044	SNV	UGT1A4,missense_variant,p.Tyr231Cys,ENST00000373409,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A8,intron_variant,,ENST00000608381,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A5,intron_variant,,ENST00000373414,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A4,missense_variant,p.Tyr231Cys,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;RPL17P11,downstream_gene_variant,,ENST00000417593,;	735	259	275	SUCCESS
ADI1	55256	.	GRCh37	2	3502749	3502749	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	23	126	0	ENST00000327435.6:c.525G>A	p.Leu175=	p.L175=	ENST00000327435	NM_018269.3	175	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1653.1	525	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCAGAAA	NONE	.	.	hmmpanther:PTHR23418,Gene3D:2.60.120.10,Superfamily_domains:SSF51182	.	.	ENSP00000333666	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000327435	Transcript	.	.	ENSG00000182551	30576	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTND_HUMAN	ADI1	HGNC	.	.	UPI000006D8C6	SNV	ADI1,synonymous_variant,p.%3D,ENST00000382093,;ADI1,synonymous_variant,p.%3D,ENST00000327435,;ADI1,synonymous_variant,p.%3D,ENST00000415131,;RP11-1293J14.1,downstream_gene_variant,,ENST00000607415,;	774	126	150	SUCCESS
XPO1	7514	.	GRCh37	2	61726908	61726908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	5	95	0	ENST00000401558.2:c.530A>T	p.Glu177Val	p.E177V	ENST00000401558	NM_003400.3	177	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS33205.1	530	MUTECT|MUSE	.	ATACTTCTTCA	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	7/25	.	.	.	.	.	.	.	.	.	7/25	nonpreferredpair	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Glu177Val,ENST00000404992,;XPO1,missense_variant,p.Glu177Val,ENST00000401558,;XPO1,missense_variant,p.Glu177Val,ENST00000406957,;XPO1,missense_variant,p.Glu177Val,ENST00000451765,;XPO1,downstream_gene_variant,,ENST00000443240,;XPO1,downstream_gene_variant,,ENST00000468259,;XPO1,downstream_gene_variant,,ENST00000476585,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,3_prime_UTR_variant,,ENST00000437159,;XPO1,non_coding_transcript_exon_variant,,ENST00000489954,;XPO1,upstream_gene_variant,,ENST00000460037,;XPO1,upstream_gene_variant,,ENST00000475744,;	1258	95	105	SUCCESS
XPO1	7514	.	GRCh37	2	61726909	61726909	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	95	0	ENST00000401558.2:c.529G>A	p.Glu177Lys	p.E177K	ENST00000401558	NM_003400.3	177	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33205.1	529	MUTECT|MUSE	.	TACTTCTTCAC	NONE	.	.	hmmpanther:PTHR11223,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	7/25	.	.	.	.	.	.	.	.	.	7/25	nonpreferredpair	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Glu177Lys,ENST00000404992,;XPO1,missense_variant,p.Glu177Lys,ENST00000401558,;XPO1,missense_variant,p.Glu177Lys,ENST00000406957,;XPO1,missense_variant,p.Glu177Lys,ENST00000451765,;XPO1,downstream_gene_variant,,ENST00000443240,;XPO1,downstream_gene_variant,,ENST00000468259,;XPO1,downstream_gene_variant,,ENST00000476585,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,3_prime_UTR_variant,,ENST00000437159,;XPO1,non_coding_transcript_exon_variant,,ENST00000489954,;XPO1,upstream_gene_variant,,ENST00000460037,;XPO1,upstream_gene_variant,,ENST00000475744,;	1257	95	106	SUCCESS
NFKBIZ	64332	.	GRCh37	3	101571988	101571988	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	76	0	ENST00000326172.5:c.618T>G	p.Asn206Lys	p.N206K	ENST00000326172	NM_031419.3	206	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS2946.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGAACC	NONE	.	.	hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF5	.	.	ENSP00000325663	.	5/12	.	.	.	.	.	.	.	.	.	5/12	nonpreferredpair	ENST00000326172	Transcript	.	.	ENSG00000144802	29805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious_low_confidence(0.02)	.	IKBZ_HUMAN	NFKBIZ	HGNC	C9JZ23_HUMAN,C9J5I7_HUMAN,C9J5G8_HUMAN	.	UPI000006FBB1	SNV	NFKBIZ,missense_variant,p.Asn106Lys,ENST00000491281,;NFKBIZ,missense_variant,p.Asn206Lys,ENST00000326151,;NFKBIZ,missense_variant,p.Asn106Lys,ENST00000394054,;NFKBIZ,missense_variant,p.Asn206Lys,ENST00000326172,;NFKBIZ,missense_variant,p.Asn106Lys,ENST00000483180,;NFKBIZ,upstream_gene_variant,,ENST00000477601,;NFKBIZ,downstream_gene_variant,,ENST00000461724,;NFKBIZ,upstream_gene_variant,,ENST00000495719,;NFKBIZ,downstream_gene_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;NFKBIZ,upstream_gene_variant,,ENST00000495089,;	733	76	78	SUCCESS
C3orf30	0	.	GRCh37	3	118865064	118865064	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	53	0	ENST00000295622.1:c.28G>C	p.Ala10Pro	p.A10P	ENST00000295622	NM_152539.2	10	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS2984.1	28	MUTECT|MUSE	.	CTCTGGCTGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000295622	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000295622	Transcript	.	.	ENSG00000163424	26553	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.18)	.	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,missense_variant,p.Ala10Pro,ENST00000295622,;IGSF11,upstream_gene_variant,,ENST00000425327,;C3orf30,upstream_gene_variant,,ENST00000492792,;RP11-484M3.5,upstream_gene_variant,,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000354673,;C3orf30,upstream_gene_variant,,ENST00000460150,;C3orf30,upstream_gene_variant,,ENST00000473121,;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Ala10Pro,ENST00000494105,;	68	53	72	SUCCESS
COL6A5	256076	.	GRCh37	3	130145236	130145236	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs202221090	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	345	11	290	0	ENST00000312481.7:c.5225G>A	p.Arg1742Gln	p.R1742Q	ENST00000312481		1742	cGg/cAg	0	A:0	A:0	.	A:0	.	A	R/Q	protein_coding	YES	.	5225	MUTECT|MUSE	.	TTTGCGGGAAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992	A:0.003	A:0.0006	ENSP00000265379	A:0	31/42	.	.	.	.	.	.	.	.	rs202221090	31/42	nonpreferredpair	ENST00000265379	Transcript	.	A:0.0006	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.124)	A:0	tolerated(0.08)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Arg1742Gln,ENST00000432398,;COL6A5,missense_variant,p.Arg1742Gln,ENST00000265379,;COL6A5,missense_variant,p.Arg1742Gln,ENST00000312481,;	5719	290	356	SUCCESS
ECE2	9718	.	GRCh37	3	184008634	184008634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	6	140	0	ENST00000402825.3:c.2174C>A	p.Ala725Asp	p.A725D	ENST00000402825	NM_014693.3	725	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS3256.2	2174	MUTECT|MUSE	.	GCATGCCTTTG	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Gene3D:3.40.390.10,Pfam_domain:PF01431,Superfamily_domains:SSF55486,Prints_domain:PR00786	.	.	ENSP00000384223	.	16/19	.	.	.	.	.	.	.	.	.	16/19	nonpreferredpair	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	SNV	ECE2,missense_variant,p.Ala599Asp,ENST00000430587,;ECE2,missense_variant,p.Ala578Asp,ENST00000359140,;ECE2,missense_variant,p.Ala653Asp,ENST00000357474,;ECE2,missense_variant,p.Ala607Asp,ENST00000404464,;ECE2,missense_variant,p.Ala725Asp,ENST00000402825,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,non_coding_transcript_exon_variant,,ENST00000488401,;ECE2,non_coding_transcript_exon_variant,,ENST00000490579,;	2174	140	124	SUCCESS
VPS8	23355	.	GRCh37	3	184711798	184711798	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	106	0	ENST00000437079.3:c.3613G>C	p.Gly1205Arg	p.G1205R	ENST00000437079	NM_001009921.2	1205	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS46971.1	3613	MUTECT|MUSE	.	AACTTGGAGAA	NONE	.	.	hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19	.	.	ENSP00000397879	.	43/48	.	.	.	.	.	.	.	.	.	43/48	nonpreferredpair	ENST00000437079	Transcript	.	.	ENSG00000156931	29122	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	VPS8_HUMAN	VPS8	HGNC	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN	.	UPI0000160BDC	SNV	VPS8,missense_variant,p.Gly1113Arg,ENST00000446204,;VPS8,missense_variant,p.Gly1203Arg,ENST00000436792,;VPS8,missense_variant,p.Gly1205Arg,ENST00000437079,;VPS8,missense_variant,p.Gly1205Arg,ENST00000287546,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,non_coding_transcript_exon_variant,,ENST00000488255,;	3784	106	96	SUCCESS
CACNA1D	776	.	GRCh37	3	53845180	53845180	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	11	138	0	ENST00000350061.5:c.6233C>T	p.Pro2078Leu	p.P2078L	ENST00000350061	NM_001128840.2	2078	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2872.1	6293	MUTECT|MUSE	.	GGACCCAAAAT	NONE	.	.	.	.	.	ENSP00000288139	.	49/49	.	.	.	.	.	.	.	.	.	49/49	nonpreferredpair	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,missense_variant,p.Pro2098Leu,ENST00000288139,;CACNA1D,missense_variant,p.Pro2054Leu,ENST00000422281,;CACNA1D,missense_variant,p.Pro2078Leu,ENST00000350061,;CACNA1D,missense_variant,p.Pro1771Leu,ENST00000481478,;CACNA1D,3_prime_UTR_variant,,ENST00000544977,;CHDH,downstream_gene_variant,,ENST00000315251,;	6411	138	181	SUCCESS
ROBO2	6092	.	GRCh37	3	77656991	77656991	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs746256476	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	78	0	ENST00000461745.1:c.3179A>C	p.Lys1060Thr	p.K1060T	ENST00000461745	NM_002942.4	1060	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS54609.1	3227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTAAACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489	.	.	ENSP00000417335	.	22/27	.	.	.	.	.	.	.	.	rs746256476	22/27	nonpreferredpair	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.05)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Lys177Thr,ENST00000471893,;ROBO2,missense_variant,p.Lys1076Thr,ENST00000487694,;ROBO2,missense_variant,p.Lys1060Thr,ENST00000332191,;ROBO2,missense_variant,p.Lys1060Thr,ENST00000461745,;ROBO2,missense_variant,p.Lys217Thr,ENST00000490991,;ROBO2,downstream_gene_variant,,ENST00000602589,;ROBO2,non_coding_transcript_exon_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	3506	78	71	SUCCESS
ANK2	287	.	GRCh37	4	114274746	114274746	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	47	0	ENST00000357077.4:c.4972G>C	p.Val1658Leu	p.V1658L	ENST00000357077	NM_001148.4	1658	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS3702.1	4972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGTTCAA	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	nonpreferredpair	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Val1625Leu,ENST00000264366,;ANK2,missense_variant,p.Val1571Leu,ENST00000503423,;ANK2,missense_variant,p.Val1658Leu,ENST00000357077,;ANK2,missense_variant,p.Val1673Leu,ENST00000504454,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	5025	47	48	SUCCESS
TKTL2	84076	.	GRCh37	4	164394922	164394922	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1200474157	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	22	41	0	ENST00000280605.3:c.-36C>T		p.*12*	ENST00000280605	NM_032136.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3805.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCAGCA	NONE	.	.	.	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,5_prime_UTR_variant,,ENST00000280605,;	126	41	32	SUCCESS
WDR17	116966	.	GRCh37	4	177069402	177069402	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	151	1	ENST00000280190.4:c.1885A>G	p.Ser629Gly	p.S629G	ENST00000280190		629	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS3825.1	1885	MUTECT|MUSE	.	CTGGCAGCTGG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998,Prints_domain:PR00320	.	.	ENSP00000280190	.	14/31	.	.	.	.	.	.	.	.	.	14/31	nonpreferredpair	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Ser612Gly,ENST00000507824,;WDR17,missense_variant,p.Ser629Gly,ENST00000280190,;WDR17,missense_variant,p.Ser605Gly,ENST00000508596,;WDR17,missense_variant,p.Ser605Gly,ENST00000393643,;WDR17,upstream_gene_variant,,ENST00000443118,;	2041	152	61	SUCCESS
BEND4	389206	.	GRCh37	4	42145862	42145862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	69	210	0	ENST00000502486.1:c.637G>A	p.Glu213Lys	p.E213K	ENST00000502486	NM_207406.3	213	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS47048.1	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTCCTGTC	BUFFER|p.N209N|c.627C>T|3	.	.	.	.	.	ENSP00000421169	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated_low_confidence(0.17)	.	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,missense_variant,p.Glu209Lys,ENST00000504360,;BEND4,missense_variant,p.Glu213Lys,ENST00000502486,;	1217	210	260	SUCCESS
ZNF721	170960	.	GRCh37	4	438107	438107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	116	0	ENST00000338977.5:c.113G>T	p.Arg38Met	p.R38M	ENST00000338977		38	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS46991.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCTTAAT	NONE	.	.	hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16	.	.	ENSP00000428878	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000511833	Transcript	.	.	ENSG00000182903	29425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	tolerated(0.09)	.	ZN721_HUMAN	ZNF721	HGNC	.	.	UPI0000E9B4A9	SNV	ZNF721,missense_variant,p.Arg82Met,ENST00000505900,;ZNF721,missense_variant,p.Arg38Met,ENST00000338977,;ZNF721,missense_variant,p.Arg50Met,ENST00000511833,;ZNF721,intron_variant,,ENST00000506646,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000514396,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ZNF721,intron_variant,,ENST00000515578,;	343	116	121	SUCCESS
FRAS1	80144	.	GRCh37	4	79398969	79398969	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	100	180	0	ENST00000264895.6:c.7852G>A	p.Val2618Ile	p.V2618I	ENST00000264895	NM_025074.6	2618	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS54771.1	7852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGTCCAG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000264895	.	55/74	.	.	.	.	.	.	.	.	.	55/74	nonpreferredpair	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Val847Ile,ENST00000512123,;FRAS1,missense_variant,p.Val2618Ile,ENST00000264895,;	8292	180	189	SUCCESS
MEPE	56955	.	GRCh37	4	88766214	88766214	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	35	0	ENST00000361056.3:c.194T>C	p.Val65Ala	p.V65A	ENST00000361056	NM_020203.3	65	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3625.1	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTCCAGG	NONE	.	.	hmmpanther:PTHR16510	.	.	ENSP00000416984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000424957	Transcript	.	.	ENSG00000152595	13361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.37)	.	MEPE_HUMAN	MEPE	HGNC	.	.	UPI000003B034	SNV	MEPE,missense_variant,p.Val41Ala,ENST00000497649,;MEPE,missense_variant,p.Val65Ala,ENST00000424957,;MEPE,missense_variant,p.Val65Ala,ENST00000361056,;MEPE,missense_variant,p.Val96Ala,ENST00000395102,;MEPE,3_prime_UTR_variant,,ENST00000511670,;MEPE,5_prime_UTR_variant,,ENST00000540395,;MEPE,5_prime_UTR_variant,,ENST00000560249,;MEPE,non_coding_transcript_exon_variant,,ENST00000515821,;MEPE,non_coding_transcript_exon_variant,,ENST00000508016,;	267	35	27	SUCCESS
GPRIN3	285513	.	GRCh37	4	90170573	90170573	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	47	0	ENST00000333209.4:c.689C>A	p.Ser230Tyr	p.S230Y	ENST00000333209		230	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34030.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGAGTCA	NONE	.	.	hmmpanther:PTHR15718:SF2,hmmpanther:PTHR15718	.	.	ENSP00000476603	.	2/2	.	.	.	.	.	.	.	.	COSM3606974	2/2	nonpreferredpair	ENST00000609438	Transcript	.	.	ENSG00000185477	27733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.759)	.	deleterious(0.01)	1	.	GPRIN3	HGNC	.	.	UPI00001C1E20	SNV	GPRIN3,missense_variant,p.Ser230Tyr,ENST00000609438,;GPRIN3,missense_variant,p.Ser230Tyr,ENST00000333209,;	1208	47	57	SUCCESS
FBN2	2201	.	GRCh37	5	127705012	127705012	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745451975	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	36	0	ENST00000262464.4:c.2111G>T	p.Ser704Ile	p.S704I	ENST00000262464	NM_001999.3	704	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS34222.1	2111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTACTGCGC	NONE	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	22/71	.	.	.	.	.	.	.	.	rs745451975	22/71	nonpreferredpair	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	deleterious(0)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Ser704Ile,ENST00000262464,;FBN2,missense_variant,p.Ser704Ile,ENST00000508053,;FBN2,missense_variant,p.Ser671Ile,ENST00000508989,;Y_RNA,downstream_gene_variant,,ENST00000384560,;FBN2,non_coding_transcript_exon_variant,,ENST00000511489,;	3086	36	42	SUCCESS
FCHSD1	89848	.	GRCh37	5	141026047	141026047	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	19	0	ENST00000435817.2:c.1044+123A>C		p.*348*	ENST00000435817	NM_033449.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47295.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTTAAAA	NONE	.	.	.	.	.	ENSP00000399259	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000435817	Transcript	.	.	ENSG00000197948	25463	.	.	MODIFIER	11/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCSD1_HUMAN	FCHSD1	HGNC	.	.	UPI000000D903	SNV	FCHSD1,intron_variant,,ENST00000522783,;FCHSD1,intron_variant,,ENST00000435817,;FCHSD1,intron_variant,,ENST00000522126,;FCHSD1,downstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000518499,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;FCHSD1,downstream_gene_variant,,ENST00000522763,;FCHSD1,downstream_gene_variant,,ENST00000522386,;FCHSD1,upstream_gene_variant,,ENST00000518160,;FCHSD1,upstream_gene_variant,,ENST00000520747,;	.	19	18	SUCCESS
EBF1	1879	.	GRCh37	5	158139190	158139190	+	synonymous_variant	Silent	SNP	G	G	A	rs763968946	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	91	0	ENST00000313708.6:c.1521C>T	p.Asn507=	p.N507=	ENST00000313708	NM_024007.3	507	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4343.1	1521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGTTGAG	NONE	byFrequency	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	14/16	.	.	.	.	.	.	.	.	rs763968946	14/16	nonpreferredpair	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,synonymous_variant,p.%3D,ENST00000380654,;EBF1,synonymous_variant,p.%3D,ENST00000313708,;EBF1,intron_variant,,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,upstream_gene_variant,,ENST00000518323,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	1804	91	77	SUCCESS
SDHA	6389	.	GRCh37	5	223682	223682	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs369321221	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	69	269	0	ENST00000264932.6:c.149C>T	p.Ser50Phe	p.S50F	ENST00000264932	NM_004168.2	50	tCc/tTc	0	A:0.0002	.	.	.	.	T	S/F	protein_coding	YES	CCDS3853.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCCGTAA	NONE	byCluster	.	hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF37,Gene3D:3.50.50.60	.	A:0	ENSP00000264932	.	2/15	.	.	.	.	.	.	.	.	rs369321221	2/15	nonpreferredpair	ENST00000264932	Transcript	1	.	ENSG00000073578	10680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.49)	.	DHSA_HUMAN	SDHA	HGNC	Q0QF12_HUMAN,B3KT34_HUMAN	.	UPI0000000C2C	SNV	SDHA,missense_variant,p.Ser50Phe,ENST00000264932,;SDHA,missense_variant,p.Ser50Phe,ENST00000504309,;SDHA,missense_variant,p.Ser50Phe,ENST00000510361,;SDHA,upstream_gene_variant,,ENST00000514233,;SDHA,missense_variant,p.Pro83Ser,ENST00000509632,;SDHA,splice_region_variant,,ENST00000502379,;SDHA,splice_region_variant,,ENST00000504824,;SDHA,splice_region_variant,,ENST00000505555,;SDHA,upstream_gene_variant,,ENST00000514027,;SDHA,upstream_gene_variant,,ENST00000509420,;	264	269	307	SUCCESS
DIMT1	27292	.	GRCh37	5	61690415	61690415	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	41	206	2	ENST00000199320.4:c.466C>G	p.Gln156Glu	p.Q156E	ENST00000199320	NM_014473.2	156	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS3981.1	466	RADIA|VARSCANS	.	TCTTTGAAACA	NONE	.	.	PROSITE_profiles:PS51689,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Gene3D:3.40.50.150,Pfam_domain:PF00398,SMART_domains:SM00650,Superfamily_domains:SSF53335	.	.	ENSP00000199320	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000199320	Transcript	.	.	ENSG00000086189	30217	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.748)	.	deleterious(0)	.	DIM1_HUMAN	DIMT1	HGNC	B4DRY2_HUMAN	.	UPI00001293E2	SNV	DIMT1,missense_variant,p.Gln156Glu,ENST00000199320,;DIMT1,missense_variant,p.Gln156Glu,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,3_prime_UTR_variant,,ENST00000514911,;DIMT1,non_coding_transcript_exon_variant,,ENST00000509182,;DIMT1,upstream_gene_variant,,ENST00000514605,;	627	209	211	SUCCESS
BVES-AS1	154442	.	GRCh37	6	105585661	105585661	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	37	0	ENST00000369122.3:n.100C>T		p.*34*	ENST00000369122				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5051.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGAAACTAGCA	NONE	.	612	.	.	.	ENSP00000313172	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,upstream_gene_variant,,ENST00000336775,;BVES,upstream_gene_variant,,ENST00000446408,;BVES,upstream_gene_variant,,ENST00000314641,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000580511,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000369122,;BVES-AS1,non_coding_transcript_exon_variant,,ENST00000580854,;BVES-AS1,upstream_gene_variant,,ENST00000369120,;	.	37	57	SUCCESS
TIAM2	26230	.	GRCh37	6	155504406	155504406	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs76467763	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	84	0	ENST00000318981.5:c.2836G>T	p.Gly946Trp	p.G946W	ENST00000318981	NM_012454.3	946	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS34558.1	2836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATGGGGAA	NONE	byCluster	.	PROSITE_profiles:PS50106,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000437188	.	16/29	.	.	.	.	.	.	.	.	rs76467763	16/29	nonpreferredpair	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Gly946Trp,ENST00000461783,;TIAM2,missense_variant,p.Gly946Trp,ENST00000318981,;TIAM2,missense_variant,p.Gly282Trp,ENST00000528391,;TIAM2,missense_variant,p.Gly946Trp,ENST00000528535,;TIAM2,missense_variant,p.Gly946Trp,ENST00000456144,;TIAM2,missense_variant,p.Gly322Trp,ENST00000367174,;TIAM2,missense_variant,p.Gly946Trp,ENST00000529824,;TIAM2,missense_variant,p.Gly970Trp,ENST00000360366,;TIAM2,missense_variant,p.Gly258Trp,ENST00000456877,;TIAM2,upstream_gene_variant,,ENST00000543712,;	4109	84	103	SUCCESS
TMEM181	57583	.	GRCh37	6	159029441	159029441	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	128	221	0	ENST00000367090.3:c.1161C>T	p.Phe387=	p.F387=	ENST00000367090	NM_020823.1	387	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS43520.1	1161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31918,hmmpanther:PTHR31918:SF1,Pfam_domain:PF06664	.	.	ENSP00000356057	.	9/17	.	.	.	.	.	.	.	.	.	9/17	nonpreferredpair	ENST00000367090	Transcript	.	.	ENSG00000146433	20958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM181_HUMAN	TMEM181	HGNC	.	.	UPI00001C1E40	SNV	TMEM181,synonymous_variant,p.%3D,ENST00000367090,;TATDN2P2,downstream_gene_variant,,ENST00000403590,;	1172	221	286	SUCCESS
SCGN	10590	.	GRCh37	6	25652581	25652581	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs369887092	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	20	0	ENST00000377961.2:c.-51A>G		p.*17*	ENST00000377961	NM_006998.3			0	G:0.0002	.	.	.	.	G	.	protein_coding	YES	CCDS4561.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAAAGTT	NONE	byFrequency|byCluster	.	.	.	G:0	ENSP00000367197	.	1/11	.	.	.	.	.	.	.	.	rs369887092	1/11	nonpreferredpair	ENST00000377961	Transcript	.	.	ENSG00000079689	16941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEGN_HUMAN	SCGN	HGNC	.	.	UPI000013580E	SNV	SCGN,5_prime_UTR_variant,,ENST00000377961,;SCGN,upstream_gene_variant,,ENST00000334979,;	118	20	29	SUCCESS
VWA7	80737	.	GRCh37	6	31742377	31742377	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753769243	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	29	0	ENST00000375688.4:c.637G>A	p.Glu213Lys	p.E213K	ENST00000375688		213	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4721.2	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCGCAAT	NONE	byFrequency	.	hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	.	.	ENSP00000364840	.	5/17	.	.	.	.	.	.	.	.	rs753769243	5/17	nonpreferredpair	ENST00000375688	Transcript	.	.	ENSG00000204396	13939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.3)	.	VWA7_HUMAN	VWA7	HGNC	.	.	UPI0000E5AD19	SNV	VWA7,missense_variant,p.Glu213Lys,ENST00000447450,;VWA7,missense_variant,p.Glu213Lys,ENST00000375688,;VWA7,missense_variant,p.Glu213Lys,ENST00000375686,;VARS,downstream_gene_variant,,ENST00000375663,;Y_RNA,downstream_gene_variant,,ENST00000364685,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,upstream_gene_variant,,ENST00000487013,;VWA7,downstream_gene_variant,,ENST00000497645,;VARS,downstream_gene_variant,,ENST00000470953,;VARS,downstream_gene_variant,,ENST00000463184,;	838	29	50	SUCCESS
PEX6	5190	.	GRCh37	6	42932089	42932089	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	67	0	ENST00000304611.8:c.2927A>C	p.Lys976Thr	p.K976T	ENST00000304611	NM_000287.3	976	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS4877.1	2927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACTTGCGC	NONE	.	.	hmmpanther:PTHR23077:SF9,hmmpanther:PTHR23077	.	.	ENSP00000303511	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000304611	Transcript	.	.	ENSG00000124587	8859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	deleterious(0.01)	.	PEX6_HUMAN	PEX6	HGNC	.	.	UPI00001316EC	SNV	PEX6,missense_variant,p.Lys976Thr,ENST00000304611,;PEX6,3_prime_UTR_variant,,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,;	2997	67	95	SUCCESS
KLHDC3	116138	.	GRCh37	6	42986679	42986679	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	60	0	ENST00000326974.4:c.899G>T	p.Gly300Val	p.G300V	ENST00000326974	NM_057161.3	300	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4880.1	899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGTGACA	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF287,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000313995	.	8/11	.	.	.	.	.	.	.	.	COSM3928472	8/11	nonpreferredpair	ENST00000326974	Transcript	.	.	ENSG00000124702	20704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.238)	.	deleterious(0.01)	1	KLDC3_HUMAN	KLHDC3	HGNC	.	.	UPI0000036176	SNV	KLHDC3,missense_variant,p.Gly241Val,ENST00000332245,;KLHDC3,missense_variant,p.Gly300Val,ENST00000326974,;KLHDC3,missense_variant,p.Gly166Val,ENST00000244670,;MEA1,upstream_gene_variant,,ENST00000244711,;RRP36,upstream_gene_variant,,ENST00000244496,;	1094	60	67	SUCCESS
DEFB110	245913	.	GRCh37	6	49989618	49989618	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	59	0	ENST00000371148.2:c.31C>A	p.His11Asn	p.H11N	ENST00000371148	NM_001037497.1	11	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS34475.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGCAGAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15001:SF10,hmmpanther:PTHR15001	.	.	ENSP00000360190	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000371148	Transcript	.	.	ENSG00000203970	18091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	DB110_HUMAN	DEFB110	HGNC	.	.	UPI00005E4A70	SNV	DEFB110,missense_variant,p.His11Asn,ENST00000371148,;DEFB110,missense_variant,p.His11Asn,ENST00000393660,;	77	59	44	SUCCESS
C6ORF165	0	.	GRCh37	6	88128105	88128105	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140570931	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	107	0	ENST00000369562.4:c.811C>A	p.Gln271Lys	p.Q271K	ENST00000369562	NM_001031743.2	271	Caa/Aaa	0	T:0	.	.	.	.	A	Q/K	protein_coding	YES	CCDS34498.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGACAATAT	NONE	.	.	Pfam_domain:PF12018,hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	.	T:0.0001	ENSP00000358575	.	7/13	.	.	.	.	.	.	.	.	rs140570931	7/13	nonpreferredpair	ENST00000369562	Transcript	.	.	ENSG00000272514	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	C6ORF165	Uniprot_gn	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN	.	UPI00001A3AA5	SNV	C6ORF165,missense_variant,p.Gln271Lys,ENST00000369562,;C6ORF165,downstream_gene_variant,,ENST00000480123,;C6orf165,missense_variant,p.Gln271Lys,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;	923	107	92	SUCCESS
UFL1	23376	.	GRCh37	6	96997391	96997391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760506200	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	102	0	ENST00000369278.4:c.1624G>A	p.Glu542Lys	p.E542K	ENST00000369278	NM_015323.4	542	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5034.1	1624	MUTECT|MUSE	.	TGCAAGAAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0	.	.	ENSP00000358283	.	14/19	.	.	.	.	.	.	.	.	rs760506200	14/19	nonpreferredpair	ENST00000369278	Transcript	.	.	ENSG00000014123	23039	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.721)	.	deleterious(0.01)	.	UFL1_HUMAN	UFL1	HGNC	B7ZAY8_HUMAN	.	UPI0000072D61	SNV	UFL1,missense_variant,p.Glu542Lys,ENST00000369278,;	1690	102	106	SUCCESS
MGAM	8972	.	GRCh37	7	141734140	141734140	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	119	204	1	ENST00000549489.2:c.1748A>C	p.His583Pro	p.H583P	ENST00000549489	NM_004668.2	583	cAc/cCc	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS47727.1	1748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCACAATC	NONE	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	.	.	ENSP00000447378	.	15/48	.	.	.	.	.	.	.	.	.	15/48	nonpreferredpair	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.His583Pro,ENST00000475668,;MGAM,missense_variant,p.His583Pro,ENST00000549489,;MGAM,upstream_gene_variant,,ENST00000490593,;MGAM,downstream_gene_variant,,ENST00000495045,;	1843	206	139	SUCCESS
TRPV5	56302	.	GRCh37	7	142625797	142625797	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377425606	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	11	122	1	ENST00000265310.1:c.751G>A	p.Gly251Ser	p.G251S	ENST00000265310	NM_019841.4	251	Ggt/Agt	0	T:0.0002	.	.	.	.	T	G/S	protein_coding	YES	CCDS5875.1	751	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACCCTCCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	T:0	ENSP00000265310	.	6/15	.	.	.	.	.	.	.	.	rs377425606	6/15	nonpreferredpair	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,missense_variant,p.Gly251Ser,ENST00000442623,;TRPV5,missense_variant,p.Gly245Ser,ENST00000439304,;TRPV5,missense_variant,p.Gly251Ser,ENST00000265310,;	1100	123	90	SUCCESS
HDAC9	9734	.	GRCh37	7	18767353	18767353	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766702378	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	16	147	0	ENST00000432645.2:c.1873C>A	p.Arg625Ser	p.R625S	ENST00000432645	NM_058176.2	625	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS47553.1	1882	MUTECT|MUSE	.	TGGACCGCCCC	NONE	byFrequency	.	hmmpanther:PTHR10625:SF116,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000408617	.	12/25	.	.	.	.	.	.	.	.	rs766702378,COSM1254012,COSM1254011	12/25	nonpreferredpair	ENST00000441542	Transcript	.	.	ENSG00000048052	14065	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.04)	.	tolerated(0.43)	0,1,1	HDAC9_HUMAN	HDAC9	HGNC	Q8N926_HUMAN,Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,C9JLX1_HUMAN,C9J835_HUMAN,C9J1W4_HUMAN,C9IZS0_HUMAN	.	UPI000019AB75	SNV	HDAC9,missense_variant,p.Arg584Ser,ENST00000401921,;HDAC9,missense_variant,p.Arg625Ser,ENST00000406451,;HDAC9,missense_variant,p.Arg625Ser,ENST00000432645,;HDAC9,missense_variant,p.Arg628Ser,ENST00000441542,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;	1882	147	251	SUCCESS
SDK1	221935	.	GRCh37	7	4008918	4008918	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753638529	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	60	106	0	ENST00000404826.2:c.1576C>T	p.Arg526Trp	p.R526W	ENST00000404826	NM_152744.3	526	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS34590.1	1576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCGGATT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	11/45	.	.	.	.	.	.	.	.	rs753638529,COSM1225019	11/45	nonpreferredpair	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.846)	.	deleterious(0)	0,1	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Arg526Trp,ENST00000404826,;SDK1,missense_variant,p.Arg526Trp,ENST00000389531,;SDK1,upstream_gene_variant,,ENST00000484011,;	1715	106	170	SUCCESS
TNS3	64759	.	GRCh37	7	47384383	47384383	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	39	0	ENST00000311160.9:c.2620A>T	p.Ser874Cys	p.S874C	ENST00000311160	NM_022748.11	874	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS5506.2	2620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	.	ENSP00000381854	.	20/31	.	.	.	.	.	.	.	.	.	20/31	nonpreferredpair	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.05)	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,missense_variant,p.Ser874Cys,ENST00000398879,;TNS3,missense_variant,p.Ser874Cys,ENST00000311160,;TNS3,missense_variant,p.Ser977Cys,ENST00000457718,;TNS3,missense_variant,p.Ser634Cys,ENST00000355730,;	2987	39	57	SUCCESS
ABCA13	154664	.	GRCh37	7	48559880	48559880	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs760564740	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	6	118	0	ENST00000435803.1:c.14041C>T	p.Arg4681Ter	p.R4681*	ENST00000435803	NM_152701.3	4681	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS47584.1	14041	MUTECT|MUSE	.	TTCTGCGATGG	NONE	byFrequency	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Low_complexity_(Seg):seg	.	.	ENSP00000411096	.	53/62	.	.	.	.	.	.	.	.	rs760564740	53/62	nonpreferredpair	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,stop_gained,p.Arg4681Ter,ENST00000435803,;ABCA13,stop_gained,p.Arg411Ter,ENST00000544596,;ABCA13,stop_gained,p.Arg454Ter,ENST00000411975,;ABCA13,downstream_gene_variant,,ENST00000435451,;ABCA13,stop_gained,p.Arg947Ter,ENST00000453246,;	14065	118	170	SUCCESS
PAPOLB	56903	.	GRCh37	7	4900131	4900131	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	50	183	0	ENST00000404991.1:c.1308G>A	p.Met436Ile	p.M436I	ENST00000404991	NM_020144.4	436	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	.	1308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACATTGT	NONE	.	.	hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Gene3D:3.30.70.590,Pfam_domain:PF04926,PIRSF_domain:PIRSF018425,Superfamily_domains:SSF55003	.	.	ENSP00000384700	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000404991	Transcript	.	.	ENSG00000218823	15970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0.03)	.	PAPOB_HUMAN	PAPOLB	HGNC	A4D1Z6_HUMAN	.	UPI0000131304	SNV	PAPOLB,missense_variant,p.Met436Ile,ENST00000404991,;RADIL,intron_variant,,ENST00000399583,;RADIL,intron_variant,,ENST00000536091,;RADIL,intron_variant,,ENST00000445392,;AC092610.12,downstream_gene_variant,,ENST00000454916,;	1495	183	249	SUCCESS
ZNF479	90827	.	GRCh37	7	57188708	57188708	+	synonymous_variant	Silent	SNP	G	G	A	rs1360513637	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	151	307	1	ENST00000331162.4:c.414C>T	p.His138=	p.H138=	ENST00000331162	NM_033273.1	138	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS43590.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGTGCAC	NONE	.	.	hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,synonymous_variant,p.%3D,ENST00000331162,;	685	308	352	SUCCESS
SEMA3C	10512	.	GRCh37	7	80435065	80435065	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	33	0	ENST00000265361.3:c.548T>A	p.Leu183His	p.L183H	ENST00000265361	NM_006379.3	183	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS5596.1	548	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAGCTCC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000265361	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,missense_variant,p.Leu183His,ENST00000265361,;SEMA3C,missense_variant,p.Leu201His,ENST00000544525,;SEMA3C,missense_variant,p.Leu35His,ENST00000536800,;SEMA3C,missense_variant,p.Leu183His,ENST00000419255,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;	1110	33	47	SUCCESS
CYP3A7	1551	.	GRCh37	7	99314832	99314832	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	65	185	0	ENST00000336374.2:c.489A>C	p.Glu163Asp	p.E163D	ENST00000336374	NM_000765.3	163	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS5673.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTTCCCG	NONE	.	.	hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000337450	.	6/13	.	.	.	.	.	.	.	.	.	6/13	nonpreferredpair	ENST00000336374	Transcript	.	.	ENSG00000160870	2640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.07)	.	CP3A7_HUMAN	CYP3A7	HGNC	.	.	UPI000013F283	SNV	CYP3A7,missense_variant,p.Glu163Asp,ENST00000336374,;AC069294.1,downstream_gene_variant,,ENST00000408560,;CYP3A7,non_coding_transcript_exon_variant,,ENST00000498080,;CYP3A7,non_coding_transcript_exon_variant,,ENST00000477357,;	492	185	220	SUCCESS
MCM7	4176	.	GRCh37	7	99691936	99691936	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	56	0	ENST00000303887.5:c.1708C>T	p.Gln570Ter	p.Q570*	ENST00000303887	NM_001278595.1	570	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5683.1	1708	MUTECT|MUSE	.	GGGCTGCTTCT	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000307288	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,stop_gained,p.Gln394Ter,ENST00000354230,;MCM7,stop_gained,p.Gln570Ter,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;MCM7,downstream_gene_variant,,ENST00000425308,;COPS6,downstream_gene_variant,,ENST00000419210,;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000303904,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MCM7,3_prime_UTR_variant,,ENST00000491245,;MCM7,non_coding_transcript_exon_variant,,ENST00000493352,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;COPS6,downstream_gene_variant,,ENST00000474823,;COPS6,downstream_gene_variant,,ENST00000426712,;COPS6,downstream_gene_variant,,ENST00000496358,;MCM7,downstream_gene_variant,,ENST00000463722,;COPS6,downstream_gene_variant,,ENST00000472107,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000468499,;COPS6,downstream_gene_variant,,ENST00000465027,;COPS6,downstream_gene_variant,,ENST00000483891,;	2354	56	55	SUCCESS
CSMD3	114788	.	GRCh37	8	113519031	113519031	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	79	1	ENST00000297405.5:c.4784C>A	p.Ser1595Tyr	p.S1595Y	ENST00000297405	NM_198123.1	1595	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6315.1	4784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGATCCT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	29/71	.	.	.	.	.	.	.	.	.	29/71	nonpreferredpair	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ser1595Tyr,ENST00000352409,;CSMD3,missense_variant,p.Ser1491Tyr,ENST00000455883,;CSMD3,missense_variant,p.Ser1595Tyr,ENST00000297405,;CSMD3,missense_variant,p.Ser935Tyr,ENST00000339701,;CSMD3,missense_variant,p.Ser1555Tyr,ENST00000343508,;	5029	80	78	SUCCESS
ASAP1	50807	.	GRCh37	8	131104271	131104271	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	62	0	ENST00000518721.1:c.2520C>A	p.Asp840Glu	p.D840E	ENST00000518721	NM_001247996.1	840	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS6362.1	2520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGTCGGA	NONE	.	.	hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180	.	.	ENSP00000350297	.	24/29	.	.	.	.	.	.	.	.	.	24/29	nonpreferredpair	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	tolerated(0.79)	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,missense_variant,p.Asp840Glu,ENST00000518721,;ASAP1,missense_variant,p.Asp661Glu,ENST00000524124,;ASAP1,missense_variant,p.Asp840Glu,ENST00000357668,;ASAP1,intron_variant,,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000520189,;	2548	62	79	SUCCESS
PIWIL2	55124	.	GRCh37	8	22136992	22136992	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	48	88	0	ENST00000356766.6:c.93T>G	p.Ala31=	p.A31=	ENST00000356766	NM_018068.3	31	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6029.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTTCTAA	NONE	.	.	.	.	.	ENSP00000349208	.	2/23	.	.	.	.	.	.	.	.	.	2/23	nonpreferredpair	ENST00000356766	Transcript	.	.	ENSG00000197181	17644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL2_HUMAN	PIWIL2	HGNC	.	.	UPI000006E98E	SNV	PIWIL2,synonymous_variant,p.%3D,ENST00000521356,;PIWIL2,synonymous_variant,p.%3D,ENST00000454009,;PIWIL2,synonymous_variant,p.%3D,ENST00000356766,;CTD-2530N21.4,upstream_gene_variant,,ENST00000523556,;	241	88	107	SUCCESS
TRPA1	8989	.	GRCh37	8	72967815	72967815	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs944401339	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	66	298	0	ENST00000262209.4:c.1385G>T	p.Cys462Phe	p.C462F	ENST00000262209	NM_007332.2	462	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34908.1	1385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACAGGTA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	12/27	.	.	.	.	.	.	.	.	.	12/27	nonpreferredpair	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Cys314Phe,ENST00000523582,;TRPA1,missense_variant,p.Cys462Phe,ENST00000262209,;RP11-383H13.1,downstream_gene_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,downstream_gene_variant,,ENST00000512290,;RP11-383H13.1,splice_region_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000520788,;RP11-383H13.1,downstream_gene_variant,,ENST00000522519,;	1593	298	309	SUCCESS
RPP25L	138716	.	GRCh37	9	34610870	34610870	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	31	0	ENST00000297613.4:c.424C>G	p.Leu142Val	p.L142V	ENST00000297613	NM_148179.2	142	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6559.1	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGGCCAG	NONE	.	.	hmmpanther:PTHR13516,hmmpanther:PTHR13516:SF2	.	.	ENSP00000297613	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000297613	Transcript	.	.	ENSG00000164967	19909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	tolerated(0.12)	.	RP25L_HUMAN	RPP25L	HGNC	.	.	UPI000006FAD5	SNV	RPP25L,missense_variant,p.Leu142Val,ENST00000297613,;RPP25L,missense_variant,p.Leu142Val,ENST00000378959,;DCTN3,downstream_gene_variant,,ENST00000447983,;DCTN3,downstream_gene_variant,,ENST00000378916,;DCTN3,downstream_gene_variant,,ENST00000341694,;DCTN3,downstream_gene_variant,,ENST00000378913,;DCTN3,downstream_gene_variant,,ENST00000421919,;DCTN3,downstream_gene_variant,,ENST00000259632,;DCTN3,downstream_gene_variant,,ENST00000477738,;DCTN3,downstream_gene_variant,,ENST00000472074,;DCTN3,downstream_gene_variant,,ENST00000472418,;DCTN3,downstream_gene_variant,,ENST00000479399,;DCTN3,downstream_gene_variant,,ENST00000481438,;	705	31	28	SUCCESS
ASPN	54829	.	GRCh37	9	95228783	95228783	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371768627	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	15	177	0	ENST00000375544.3:c.458G>A	p.Arg153Gln	p.R153Q	ENST00000375544	NM_017680.4	153	cGa/cAa	0	T:0	.	.	.	.	T	R/Q	protein_coding	YES	.	458	MUTECT|MUSE	.	GCCTTCGCAAC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF10,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	T:0.0001	ENSP00000364694	.	4/8	.	.	.	.	.	.	.	.	rs371768627	4/8	nonpreferredpair	ENST00000375544	Transcript	.	.	ENSG00000106819	14872	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.097)	.	tolerated(0.64)	.	ASPN_HUMAN	ASPN	HGNC	Q6P528_HUMAN	.	UPI000013C839	SNV	ASPN,missense_variant,p.Arg153Gln,ENST00000375544,;ASPN,missense_variant,p.Arg153Gln,ENST00000395538,;ASPN,missense_variant,p.Arg153Gln,ENST00000375543,;CENPP,intron_variant,,ENST00000375587,;ASPN,downstream_gene_variant,,ENST00000450139,;	702	177	189	SUCCESS
CAPN6	827	.	GRCh37	X	110497516	110497516	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs779587945	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	59	98	0	ENST00000324068.1:c.281del	p.Glu94GlyfsTer42	p.E94Gfs*42	ENST00000324068	NM_014289.3	94	gAg/gg	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS14555.1	281	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGACTCCTGA	NONE	byFrequency	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF281,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000317214	.	3/13	.	.	.	.	.	.	.	.	rs779587945	3/13	nonpreferredpair	ENST00000324068	Transcript	.	.	ENSG00000077274	1483	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAN6_HUMAN	CAPN6	HGNC	F5GWQ6_HUMAN	.	UPI0000126EA1	deletion	CAPN6,frameshift_variant,p.Glu94GlyfsTer42,ENST00000324068,;CAPN6,5_prime_UTR_variant,,ENST00000541758,;	449	98	121	SUCCESS
MAGEE2	139599	.	GRCh37	X	75003421	75003421	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	42	185	0	ENST00000373359.2:c.1466G>A	p.Arg489Lys	p.R489K	ENST00000373359	NM_138703.4	489	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS14431.1	1466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCTGTAG	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.96)	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,missense_variant,p.Arg489Lys,ENST00000373359,;	1659	185	111	SUCCESS
CYLC1	1538	.	GRCh37	X	83128349	83128349	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	123	0	ENST00000329312.4:c.633T>A	p.Thr211=	p.T211=	ENST00000329312	NM_021118.2	211	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS35341.1	633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACTGAATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742:SF1,hmmpanther:PTHR16742	.	.	ENSP00000331556	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000329312	Transcript	.	.	ENSG00000183035	2582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYLC1_HUMAN	CYLC1	HGNC	.	.	UPI0000251E1D	SNV	CYLC1,synonymous_variant,p.%3D,ENST00000329312,;	670	123	61	SUCCESS
CHUK	1147	.	GRCh37	10	101953098	101953098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	21	102	0	ENST00000370397.7:c.2065G>A	p.Glu689Lys	p.E689K	ENST00000370397	NM_001278.3	689	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7488.1	2065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCTGCTG	NONE	.	.	hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13	.	.	ENSP00000359424	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.92)	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	SNV	CHUK,missense_variant,p.Glu689Lys,ENST00000370397,;RP11-316M21.7,downstream_gene_variant,,ENST00000443919,;CHUK,non_coding_transcript_exon_variant,,ENST00000585551,;CHUK,non_coding_transcript_exon_variant,,ENST00000590930,;CHUK,intron_variant,,ENST00000588656,;	2152	102	105	SUCCESS
CWF19L1	55280	.	GRCh37	10	101996663	101996663	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	18	161	2	ENST00000354105.4:c.1318G>A	p.Ala440Thr	p.A440T	ENST00000354105	NM_018294.4	440	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS7489.1	1318	RADIA|VARSCANS	.	CTGTGCCTGGG	NONE	.	.	hmmpanther:PTHR12072:SF4,hmmpanther:PTHR12072,Gene3D:3.30.428.10	.	.	ENSP00000326411	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000354105	Transcript	.	.	ENSG00000095485	25613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	C19L1_HUMAN	CWF19L1	HGNC	D3DR67_HUMAN	.	UPI0000070B3E	SNV	CWF19L1,missense_variant,p.Ala440Thr,ENST00000354105,;CWF19L1,intron_variant,,ENST00000370379,;SNORA12,downstream_gene_variant,,ENST00000391162,;RP11-316M21.6,downstream_gene_variant,,ENST00000444359,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000468709,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000482452,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000478047,;CWF19L1,downstream_gene_variant,,ENST00000466408,;CWF19L1,downstream_gene_variant,,ENST00000466955,;	1405	163	154	SUCCESS
ATRNL1	26033	.	GRCh37	10	117027800	117027800	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	103	1	ENST00000355044.3:c.1982-3T>A		p.X661_splice	ENST00000355044	NM_207303.2	661		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7592.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTATAGCTG	NONE	.	.	.	.	.	ENSP00000347152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	LOW	12/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,splice_region_variant,,ENST00000355044,;	.	104	93	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37442511	37442511	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	594	48	689	0	ENST00000361713.1:c.1551G>A	p.Glu517=	p.E517=	ENST00000361713	NM_052997.2	517	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7193.1	1551	MUTECT|MUSE|VARSCANS	.	TGTGAGACTGT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11	.	.	ENSP00000354432	.	13/36	.	.	.	.	.	.	.	.	.	13/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,synonymous_variant,p.%3D,ENST00000374660,;ANKRD30A,synonymous_variant,p.%3D,ENST00000361713,;ANKRD30A,synonymous_variant,p.%3D,ENST00000602533,;	1650	689	643	SUCCESS
ARID5B	84159	.	GRCh37	10	63851583	63851583	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs745891908	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	88	0	ENST00000279873.7:c.2361C>A	p.Ser787Arg	p.S787R	ENST00000279873	NM_032199.2	787	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS31208.1	2361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCTTCTC	NONE	byFrequency	.	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22	.	.	ENSP00000279873	.	10/10	.	.	.	.	.	.	.	.	rs745891908	10/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.24)	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,missense_variant,p.Ser787Arg,ENST00000279873,;ARID5B,missense_variant,p.Ser544Arg,ENST00000309334,;	2771	88	86	SUCCESS
LRIT1	26103	.	GRCh37	10	86001094	86001094	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	59	140	0	ENST00000372105.3:c.102G>T	p.Met34Ile	p.M34I	ENST00000372105	NM_015613.2	34	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7373.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCATGAT	NONE	.	.	.	.	.	ENSP00000361177	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.16)	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Met34Ile,ENST00000372105,;RGR,upstream_gene_variant,,ENST00000358110,;RGR,upstream_gene_variant,,ENST00000372092,;RGR,upstream_gene_variant,,ENST00000359452,;RGR,upstream_gene_variant,,ENST00000478727,;RGR,upstream_gene_variant,,ENST00000469446,;RGR,upstream_gene_variant,,ENST00000483660,;RGR,upstream_gene_variant,,ENST00000483771,;	124	140	160	SUCCESS
SLC35F2	54733	.	GRCh37	11	107663412	107663412	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	110	0	ENST00000525815.1:c.1054A>G	p.Ser352Gly	p.S352G	ENST00000525815	NM_017515.4	352	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS41709.1	1054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTGGTGA	NONE	.	.	hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Pfam_domain:PF06027	.	.	ENSP00000436785	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000525815	Transcript	.	.	ENSG00000110660	23615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.11)	.	S35F2_HUMAN	SLC35F2	HGNC	E9PKZ2_HUMAN,B4DUB9_HUMAN	.	UPI0000074335	SNV	SLC35F2,missense_variant,p.Ser352Gly,ENST00000429869,;SLC35F2,missense_variant,p.Ser352Gly,ENST00000525815,;SLC35F2,missense_variant,p.Ser305Gly,ENST00000375682,;SLC35F2,missense_variant,p.Ser204Gly,ENST00000265836,;SLC35F2,synonymous_variant,p.%3D,ENST00000525071,;SLC35F2,3_prime_UTR_variant,,ENST00000532513,;SLC35F2,3_prime_UTR_variant,,ENST00000533664,;	1475	110	72	SUCCESS
TEAD1	7003	.	GRCh37	11	12958680	12958680	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	19	138	0	ENST00000527636.1:c.1192G>A	p.Glu398Lys	p.E398K	ENST00000527636		398	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7810.2	1192	RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGAAACT	NONE	.	.	hmmpanther:PTHR11834,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603	.	.	ENSP00000354588	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000361985	Transcript	.	.	ENSG00000187079	11714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	TEAD1	HGNC	H0YE88_HUMAN,H0YCZ6_HUMAN	.	UPI000013D412	SNV	TEAD1,missense_variant,p.Glu329Lys,ENST00000334310,;TEAD1,missense_variant,p.Glu302Lys,ENST00000526600,;TEAD1,missense_variant,p.Glu383Lys,ENST00000361905,;TEAD1,missense_variant,p.Glu340Lys,ENST00000527575,;TEAD1,missense_variant,p.Glu398Lys,ENST00000527636,;TEAD1,missense_variant,p.Glu398Lys,ENST00000361985,;	1346	138	128	SUCCESS
OR51G1	79324	.	GRCh37	11	4945247	4945247	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	92	1	ENST00000321961.2:c.323C>A	p.Thr108Asn	p.T108N	ENST00000321961	NM_001005237.1	108	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS31366.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGGTGTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321961	Transcript	.	.	ENSG00000176879	14738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	tolerated(0.15)	.	O51G1_HUMAN	OR51G1	HGNC	.	.	UPI0000041B56	SNV	OR51G1,missense_variant,p.Thr108Asn,ENST00000321961,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	391	93	84	SUCCESS
GLYATL1	92292	.	GRCh37	11	58722261	58722261	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	31	205	0	ENST00000317391.4:c.205G>A	p.Asp69Asn	p.D69N	ENST00000317391	NM_001220494.1	69	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS31556.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGATTCA	NONE	.	.	hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF7,Pfam_domain:PF06021,Superfamily_domains:SSF55729	.	.	ENSP00000300079	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000300079	Transcript	.	.	ENSG00000166840	30519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	tolerated(0.06)	.	GLYL1_HUMAN	GLYATL1	HGNC	E9PP99_HUMAN,E9PNJ8_HUMAN,E9PK55_HUMAN	.	UPI000006ED98	SNV	GLYATL1,missense_variant,p.Asp69Asn,ENST00000317391,;GLYATL1,missense_variant,p.Asp69Asn,ENST00000532726,;GLYATL1,missense_variant,p.Asp92Asn,ENST00000526351,;GLYATL1,missense_variant,p.Asp100Asn,ENST00000300079,;GLYATL1,incomplete_terminal_codon_variant,p.%3D,ENST00000525608,;RP11-142C4.6,intron_variant,,ENST00000533954,;RP11-142C4.6,downstream_gene_variant,,ENST00000525714,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000533864,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000524403,;GLYATL1,intron_variant,,ENST00000534063,;GLYATL1,3_prime_UTR_variant,,ENST00000527708,;GLYATL1,3_prime_UTR_variant,,ENST00000530240,;GLYATL1,3_prime_UTR_variant,,ENST00000524881,;GLYATL1,3_prime_UTR_variant,,ENST00000530774,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000534119,;	348	205	136	SUCCESS
MAP4K2	5871	.	GRCh37	11	64567809	64567811	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	rs771074867	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	43	0	ENST00000294066.2:c.779_781del	p.Lys260del	p.K260del	ENST00000294066	NM_004579.3	260	aAGAgg/agg	0	-:0.0002	.	.	.	.	-	KR/R	protein_coding	YES	CCDS8082.1	779-781	VARSCANI*|PINDEL	.	TCGGCCTCTTCTTA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	.	-:0	ENSP00000294066	.	11/32	.	.	.	.	.	.	.	.	rs771074867	11/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	deletion	MAP4K2,inframe_deletion,p.Lys260del,ENST00000377350,;MAP4K2,inframe_deletion,p.Lys260del,ENST00000294066,;MAP4K2,inframe_deletion,p.Lys216del,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000443283,;MEN1,downstream_gene_variant,,ENST00000394374,;MEN1,downstream_gene_variant,,ENST00000377326,;MEN1,downstream_gene_variant,,ENST00000394376,;MEN1,downstream_gene_variant,,ENST00000377316,;MEN1,downstream_gene_variant,,ENST00000315422,;MEN1,downstream_gene_variant,,ENST00000312049,;MEN1,downstream_gene_variant,,ENST00000377321,;MEN1,downstream_gene_variant,,ENST00000377313,;MEN1,downstream_gene_variant,,ENST00000337652,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000493428,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000482314,;MEN1,downstream_gene_variant,,ENST00000478548,;MEN1,downstream_gene_variant,,ENST00000487019,;MAP4K2,downstream_gene_variant,,ENST00000468062,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,upstream_gene_variant,,ENST00000424945,;MAP4K2,upstream_gene_variant,,ENST00000467689,;MAP4K2,downstream_gene_variant,,ENST00000444560,;MAP4K2,upstream_gene_variant,,ENST00000489952,;MAP4K2,upstream_gene_variant,,ENST00000470088,;	871-873	43	30	SUCCESS
DCHS1	8642	.	GRCh37	11	6650989	6650989	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	54	0	ENST00000299441.3:c.4949A>G	p.Gln1650Arg	p.Q1650R	ENST00000299441	NM_003737.2	1650	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7771.1	4949	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGGAAA	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.11)	.	deleterious(0.04)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Gln1650Arg,ENST00000299441,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	5361	54	58	SUCCESS
ZNF214	7761	.	GRCh37	11	7021610	7021610	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	25	108	0	ENST00000278314.4:c.1304T>A	p.Val435Glu	p.V435E	ENST00000278314	NM_013249.2	435	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS31418.1	1304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCACTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF54,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000278314	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000278314	Transcript	.	.	ENSG00000149050	13006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	ZN214_HUMAN	ZNF214	HGNC	.	.	UPI000013DB6B	SNV	ZNF214,missense_variant,p.Val435Glu,ENST00000536068,;ZNF214,missense_variant,p.Val435Glu,ENST00000278314,;ZNF214,downstream_gene_variant,,ENST00000531083,;	1620	108	90	SUCCESS
FAT3	120114	.	GRCh37	11	92531022	92531022	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	41	198	2	ENST00000298047.6:c.4843A>T	p.Lys1615Ter	p.K1615*	ENST00000298047		1615	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	.	4843	RADIA|SOMATICSNIPER|VARSCANS	.	TGTTTAAGATC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,stop_gained,p.Lys1615Ter,ENST00000298047,;FAT3,stop_gained,p.Lys1615Ter,ENST00000409404,;FAT3,stop_gained,p.Lys1465Ter,ENST00000525166,;	4860	200	164	SUCCESS
KLRK1	22914	.	GRCh37	12	10531200	10531200	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	84	0	ENST00000240618.6:c.382A>G	p.Met128Val	p.M128V	ENST00000240618	NM_007360.3	128	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS8623.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATACAAG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF14,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000240618	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000240618	Transcript	.	.	ENSG00000213809	18788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.59)	.	NKG2D_HUMAN	KLRK1	HGNC	Q8WZ67_HUMAN	.	UPI000013CAB1	SNV	KLRK1,missense_variant,p.Met128Val,ENST00000540818,;KLRK1,missense_variant,p.Met128Val,ENST00000240618,;RP11-277P12.20,intron_variant,,ENST00000500682,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591546,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588263,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588447,;KLRK1,3_prime_UTR_variant,,ENST00000396451,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590323,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRK1,non_coding_transcript_exon_variant,,ENST00000540267,;KLRC4-KLRK1,downstream_gene_variant,,ENST00000585507,;KLRC4-KLRK1,downstream_gene_variant,,ENST00000539370,;KLRC4-KLRK1,downstream_gene_variant,,ENST00000591937,;	523	84	56	SUCCESS
SETD1B	23067	.	GRCh37	12	122252796	122252796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	118	0	ENST00000604567.1:c.2675C>T	p.Ala892Val	p.A892V	ENST00000604567		892	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS53838.1	2675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCCTTTG	NONE	.	.	hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	.	.	ENSP00000267197	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000267197	Transcript	.	.	ENSG00000139718	29187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,missense_variant,p.Ala892Val,ENST00000604567,;SETD1B,missense_variant,p.Ala892Val,ENST00000542440,;SETD1B,missense_variant,p.Ala892Val,ENST00000267197,;	2681	118	104	SUCCESS
SCN8A	6334	.	GRCh37	12	52115518	52115518	+	synonymous_variant	Silent	SNP	C	C	T	rs756753738	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	19	0	ENST00000354534.6:c.1824C>T	p.Arg608=	p.R608=	ENST00000354534	NM_014191.3	608	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS44891.1	1824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCGAGCG	NONE	byFrequency	.	Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132	.	.	ENSP00000346534	.	12/27	.	.	.	.	.	.	.	.	rs756753738	12/27	PASS	ENST00000354534	Transcript	.	.	ENSG00000196876	10596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN8A_HUMAN	SCN8A	HGNC	Q9P2Q6_HUMAN,Q8WWN3_HUMAN	.	UPI000006FD85	SNV	SCN8A,synonymous_variant,p.%3D,ENST00000550891,;SCN8A,synonymous_variant,p.%3D,ENST00000354534,;SCN8A,synonymous_variant,p.%3D,ENST00000551216,;SCN8A,synonymous_variant,p.%3D,ENST00000355133,;SCN8A,synonymous_variant,p.%3D,ENST00000545061,;	2002	19	15	SUCCESS
SMARCC2	6601	.	GRCh37	12	56563450	56563450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	76	2	ENST00000267064.4:c.2485G>A	p.Glu829Lys	p.E829K	ENST00000267064	NM_003075.3	829	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8907.1	2485	SOMATICSNIPER|VARSCANS	.	CCCTTCCTTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12802:SF38,hmmpanther:PTHR12802	.	.	ENSP00000267064	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.16)	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	SNV	SMARCC2,missense_variant,p.Glu829Lys,ENST00000267064,;SMARCC2,missense_variant,p.Glu860Lys,ENST00000550164,;SMARCC2,missense_variant,p.Glu860Lys,ENST00000394023,;SMARCC2,missense_variant,p.Glu860Lys,ENST00000347471,;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,downstream_gene_variant,,ENST00000549209,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,downstream_gene_variant,,ENST00000552566,;SMARCC2,downstream_gene_variant,,ENST00000548130,;SMARCC2,downstream_gene_variant,,ENST00000552931,;	2572	78	83	SUCCESS
MON2	23041	.	GRCh37	12	62926222	62926222	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	17	113	0	ENST00000393630.3:c.1405G>T	p.Glu469Ter	p.E469*	ENST00000393630		469	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31849.1	1405	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTAGAAATG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105	.	.	ENSP00000377252	.	12/35	.	.	.	.	.	.	.	.	COSM942357	12/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,stop_gained,p.Glu469Ter,ENST00000546600,;MON2,stop_gained,p.Glu469Ter,ENST00000393630,;MON2,stop_gained,p.Glu469Ter,ENST00000280379,;MON2,stop_gained,p.Glu469Ter,ENST00000552115,;MON2,stop_gained,p.Glu469Ter,ENST00000393629,;MON2,stop_gained,p.Glu469Ter,ENST00000393632,;MON2,stop_gained,p.Glu469Ter,ENST00000552738,;MON2,3_prime_UTR_variant,,ENST00000547095,;	1796	113	112	SUCCESS
UBAC2	337867	.	GRCh37	13	100020041	100020041	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	42	139	0	ENST00000403766.3:c.808G>A	p.Gly270Arg	p.G270R	ENST00000403766	NM_001144072.1	270	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS45064.1	808	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12917:SF11,hmmpanther:PTHR12917	.	.	ENSP00000383911	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000403766	Transcript	.	.	ENSG00000134882	20486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.05)	.	UBAC2_HUMAN	UBAC2	HGNC	B3KW74_HUMAN	.	UPI000003B0B4	SNV	UBAC2,missense_variant,p.Gly235Arg,ENST00000376440,;UBAC2,missense_variant,p.Gly136Arg,ENST00000355700,;UBAC2,missense_variant,p.Gly270Arg,ENST00000403766,;UBAC2,splice_region_variant,,ENST00000460562,;UBAC2,splice_region_variant,,ENST00000494576,;UBAC2,splice_region_variant,,ENST00000480738,;UBAC2,splice_region_variant,,ENST00000473194,;UBAC2,non_coding_transcript_exon_variant,,ENST00000474510,;HMGB3P4,upstream_gene_variant,,ENST00000428776,;	943	139	127	SUCCESS
METTL21C	196541	.	GRCh37	13	103339396	103339396	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs763639154	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	70	0	ENST00000267273.6:c.294del	p.Leu98PhefsTer12	p.L98Ffs*12	ENST00000267273	NM_001010977.2	98	ttG/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS32003.1	294	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGACACAAAGC	NONE	.	.	hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614,Gene3D:3.40.50.150,Pfam_domain:PF10294,Superfamily_domains:SSF53335	.	.	ENSP00000267273	.	3/4	.	.	.	.	.	.	.	.	rs763639154	3/4	PASS	ENST00000267273	Transcript	.	.	ENSG00000139780	33717	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MT21C_HUMAN	METTL21C	HGNC	.	.	UPI000016196F	deletion	METTL21C,frameshift_variant,p.Leu98PhefsTer12,ENST00000267273,;	300	70	70	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111811416	111811416	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	121	1	ENST00000375741.2:c.295A>G	p.Thr99Ala	p.T99A	ENST00000375741	NM_145735.2	99	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS45068.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCACCATT	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Gene3D:1.10.418.10,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826,PROSITE_profiles:PS50021	.	.	ENSP00000364893	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(1)	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,missense_variant,p.Thr99Ala,ENST00000375741,;ARHGEF7,intron_variant,,ENST00000466143,;ARHGEF7,intron_variant,,ENST00000375736,;ARHGEF7,intron_variant,,ENST00000449979,;ARHGEF7,intron_variant,,ENST00000218789,;ARHGEF7,intron_variant,,ENST00000375739,;ARHGEF7,intron_variant,,ENST00000491775,;ARHGEF7,intron_variant,,ENST00000544132,;ARHGEF7,intron_variant,,ENST00000317133,;ARHGEF7,intron_variant,,ENST00000370623,;ARHGEF7,intron_variant,,ENST00000469877,;	545	123	93	SUCCESS
BRCA2	675	.	GRCh37	13	32914479	32914479	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs80358834	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	61	0	ENST00000380152.3:c.5987C>G	p.Ala1996Gly	p.A1996G	ENST00000380152		1996	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS9344.1	5987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	AAACGCAAGAC	NONE	byCluster	.	PROSITE_profiles:PS50138,hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,Pfam_domain:PF00634,PIRSF_domain:PIRSF002397	.	.	ENSP00000439902	.	11/28	.	.	.	.	.	.	.	.	rs80358834	11/28	PASS	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.986)	.	deleterious(0.01)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.Ala1996Gly,ENST00000544455,;BRCA2,missense_variant,p.Ala1996Gly,ENST00000380152,;	6214	61	55	SUCCESS
PCDH17	27253	.	GRCh37	13	58206732	58206732	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	89	0	ENST00000377918.3:c.52C>A	p.Leu18Ile	p.L18I	ENST00000377918	NM_001040429.2	18	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS31986.1	52	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCTCAAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF41,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000367151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,missense_variant,p.Leu18Ile,ENST00000377918,;PCDH17,missense_variant,p.Leu18Ile,ENST00000484979,;	78	89	86	SUCCESS
LMO7	4008	.	GRCh37	13	76381696	76381696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	80	0	ENST00000465261.2:c.578C>A	p.Thr193Asn	p.T193N	ENST00000465261	NM_015842.2	193	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS53876.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCACTTCTG	NONE	.	.	hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4	.	.	ENSP00000433352	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.04)	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Thr478Asn,ENST00000357063,;LMO7,missense_variant,p.Thr193Asn,ENST00000465261,;LMO7,missense_variant,p.Thr478Asn,ENST00000377534,;LMO7,missense_variant,p.Thr193Asn,ENST00000321797,;LMO7,missense_variant,p.Thr99Asn,ENST00000526528,;LMO7,missense_variant,p.Thr102Asn,ENST00000447038,;LMO7,intron_variant,,ENST00000526202,;LMO7,intron_variant,,ENST00000341547,;LMO7,intron_variant,,ENST00000377499,;LMO7,intron_variant,,ENST00000489941,;LMO7,intron_variant,,ENST00000497947,;LMO7,intron_variant,,ENST00000525373,;LMO7,downstream_gene_variant,,ENST00000534657,;LMO7,downstream_gene_variant,,ENST00000526371,;LMO7,downstream_gene_variant,,ENST00000533305,;RP11-29G8.3,downstream_gene_variant,,ENST00000563635,;LMO7,downstream_gene_variant,,ENST00000465309,;	1338	80	77	SUCCESS
POTEM	641455	.	GRCh37	14	20020053	20020053	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	277	49	434	1	ENST00000547848.1:c.168A>T	p.Thr56=	p.T56=	ENST00000547848		56	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS45076.1	168	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTGTCTT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000452296	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000551509	Transcript	.	.	ENSG00000187537	37096	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POTEM_HUMAN	POTEM	HGNC	.	.	UPI00006C1407	SNV	POTEM,synonymous_variant,p.%3D,ENST00000551509,;POTEM,synonymous_variant,p.%3D,ENST00000547848,;POTEM,synonymous_variant,p.%3D,ENST00000547722,;	220	435	327	SUCCESS
TRIP11	9321	.	GRCh37	14	92470462	92470462	+	synonymous_variant	Silent	SNP	C	C	T	rs35798420	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	111	0	ENST00000267622.4:c.3858G>A	p.Gln1286=	p.Q1286=	ENST00000267622	NM_004239.3	1286	caG/caA	0	T:0.0161	T:0.0159	.	T:0	.	T	Q	protein_coding	YES	CCDS9899.1	3858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCCTGCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR18921:SF2,hmmpanther:PTHR18921	T:0	T:0	ENSP00000267622	T:0	11/21	.	.	.	.	.	.	.	.	rs35798420	11/21	common_in_exac	ENST00000267622	Transcript	1	T:0.0042	ENSG00000100815	12305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TRIPB_HUMAN	TRIP11	HGNC	G3V4R7_HUMAN	.	UPI000013D767	SNV	TRIP11,synonymous_variant,p.%3D,ENST00000554357,;TRIP11,synonymous_variant,p.%3D,ENST00000267622,;TRIP11,upstream_gene_variant,,ENST00000557017,;	4232	111	64	SUCCESS
OCA2	4948	.	GRCh37	15	28230305	28230305	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1397133196	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	53	135	1	ENST00000354638.3:c.1269G>A	p.Trp423Ter	p.W423*	ENST00000354638	NM_000275.2	423	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS10020.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCCACAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF67,Pfam_domain:PF03600	.	.	ENSP00000346659	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000354638	Transcript	1	.	ENSG00000104044	8101	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P_HUMAN	OCA2	HGNC	C9JDV3_HUMAN	.	UPI000013D158	SNV	OCA2,stop_gained,p.Trp423Ter,ENST00000354638,;OCA2,stop_gained,p.Trp399Ter,ENST00000353809,;OCA2,stop_gained,p.Trp423Ter,ENST00000382996,;	1425	136	114	SUCCESS
MAN2C1	4123	.	GRCh37	15	75652525	75652525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377316574	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	92	0	ENST00000267978.5:c.1612C>T	p.Arg538Trp	p.R538W	ENST00000267978	NM_006715.3	538	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS58391.1	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGCTCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607,Gene3D:3bvxA02,Pfam_domain:PF09261,SMART_domains:SM00872,Superfamily_domains:SSF88688	.	A:0.0001	ENSP00000457788	.	14/26	.	.	.	.	.	.	.	.	rs377316574	14/26	PASS	ENST00000565683	Transcript	.	.	ENSG00000140400	6827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.663)	.	tolerated(0.18)	.	MA2C1_HUMAN	MAN2C1	HGNC	H3BRV3_HUMAN	.	UPI0000229CBC	SNV	MAN2C1,missense_variant,p.Arg538Trp,ENST00000565683,;MAN2C1,missense_variant,p.Arg439Trp,ENST00000563622,;MAN2C1,missense_variant,p.Arg538Trp,ENST00000267978,;MAN2C1,missense_variant,p.Arg538Trp,ENST00000569482,;MAN2C1,downstream_gene_variant,,ENST00000566256,;NEIL1,downstream_gene_variant,,ENST00000564784,;MAN2C1,downstream_gene_variant,,ENST00000561615,;MAN2C1,downstream_gene_variant,,ENST00000568374,;NEIL1,downstream_gene_variant,,ENST00000355059,;NEIL1,downstream_gene_variant,,ENST00000569035,;RP11-817O13.6,upstream_gene_variant,,ENST00000563660,;MAN2C1,downstream_gene_variant,,ENST00000563539,;MAN2C1,downstream_gene_variant,,ENST00000566253,;MAN2C1,3_prime_UTR_variant,,ENST00000566634,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000562461,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563596,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564785,;MAN2C1,upstream_gene_variant,,ENST00000563794,;MAN2C1,downstream_gene_variant,,ENST00000421803,;MAN2C1,downstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000566099,;MAN2C1,upstream_gene_variant,,ENST00000561693,;MAN2C1,upstream_gene_variant,,ENST00000566569,;MAN2C1,upstream_gene_variant,,ENST00000567360,;NEIL1,downstream_gene_variant,,ENST00000569758,;MAN2C1,downstream_gene_variant,,ENST00000565784,;MAN2C1,downstream_gene_variant,,ENST00000563058,;MAN2C1,upstream_gene_variant,,ENST00000562067,;MAN2C1,upstream_gene_variant,,ENST00000566013,;MAN2C1,downstream_gene_variant,,ENST00000569355,;MAN2C1,downstream_gene_variant,,ENST00000562071,;MAN2C1,downstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000565801,;MAN2C1,upstream_gene_variant,,ENST00000564570,;NEIL1,downstream_gene_variant,,ENST00000561643,;MAN2C1,downstream_gene_variant,,ENST00000565534,;NEIL1,downstream_gene_variant,,ENST00000565121,;MAN2C1,downstream_gene_variant,,ENST00000563013,;MAN2C1,upstream_gene_variant,,ENST00000564929,;MAN2C1,upstream_gene_variant,,ENST00000567163,;MAN2C1,upstream_gene_variant,,ENST00000563368,;MAN2C1,downstream_gene_variant,,ENST00000570257,;NEIL1,downstream_gene_variant,,ENST00000567393,;MAN2C1,upstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000562228,;MAN2C1,upstream_gene_variant,,ENST00000563528,;MAN2C1,upstream_gene_variant,,ENST00000569176,;	1624	93	64	SUCCESS
CLEC16A	23274	.	GRCh37	16	11114147	11114147	+	synonymous_variant	Silent	SNP	C	C	T	rs80034801	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	67	145	0	ENST00000409790.1:c.1401C>T	p.Ala467=	p.A467=	ENST00000409790	NM_015226.2	467	gcC/gcT	0	T:0.0173	T:0.0257	.	T:0.0043	.	T	A	protein_coding	YES	CCDS45409.1	1401	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCGCCGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21481	T:0	T:0.0001	ENSP00000387122	T:0	12/24	.	.	.	.	.	.	.	.	rs80034801	12/24	common_in_exac	ENST00000409790	Transcript	.	T:0.0076	ENSG00000038532	29013	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	CL16A_HUMAN	CLEC16A	HGNC	.	.	UPI0000253BAD	SNV	CLEC16A,synonymous_variant,p.%3D,ENST00000409790,;CLEC16A,synonymous_variant,p.%3D,ENST00000409552,;CLEC16A,upstream_gene_variant,,ENST00000476025,;CLEC16A,upstream_gene_variant,,ENST00000465491,;CLEC16A,upstream_gene_variant,,ENST00000463459,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000494853,;CLEC16A,upstream_gene_variant,,ENST00000487189,;CLEC16A,upstream_gene_variant,,ENST00000463896,;	1631	145	175	SUCCESS
MMP2	4313	.	GRCh37	16	55513476	55513476	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	66	0	ENST00000219070.4:c.85G>A	p.Ala29Thr	p.A29T	ENST00000219070	NM_004530.4	29	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10752.1	85	MUTECT|MUSE	.	CCGCCGCCGCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201	.	.	ENSP00000219070	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000219070	Transcript	.	.	ENSG00000087245	7166	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.821)	.	tolerated(0.06)	.	MMP2_HUMAN	MMP2	HGNC	Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN	.	UPI00000422C4	SNV	MMP2,missense_variant,p.Ala29Thr,ENST00000219070,;MMP2,intron_variant,,ENST00000568715,;MMP2,intron_variant,,ENST00000570308,;MMP2,upstream_gene_variant,,ENST00000543485,;MMP2,upstream_gene_variant,,ENST00000564864,;MMP2,upstream_gene_variant,,ENST00000437642,;	594	66	66	SUCCESS
ENKD1	84080	.	GRCh37	16	67697652	67697652	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	40	135	2	ENST00000243878.4:c.651C>T	p.Ser217=	p.S217=	ENST00000243878	NM_032140.1	217	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10844.1	651	RADIA|SOMATICSNIPER|VARSCANS	.	GAGCAGGAATG	NONE	.	.	hmmpanther:PTHR21490:SF2,hmmpanther:PTHR21490	.	.	ENSP00000243878	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000243878	Transcript	.	.	ENSG00000124074	25246	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENKD1_HUMAN	ENKD1	HGNC	.	.	UPI00000727D7	SNV	ENKD1,synonymous_variant,p.%3D,ENST00000243878,;ENKD1,intron_variant,,ENST00000602644,;PARD6A,downstream_gene_variant,,ENST00000458121,;PARD6A,downstream_gene_variant,,ENST00000602551,;ACD,upstream_gene_variant,,ENST00000219251,;PARD6A,downstream_gene_variant,,ENST00000219255,;C16orf86,upstream_gene_variant,,ENST00000403458,;ACD,upstream_gene_variant,,ENST00000602850,;ACD,upstream_gene_variant,,ENST00000393919,;ACD,upstream_gene_variant,,ENST00000602320,;ACD,upstream_gene_variant,,ENST00000602382,;C16orf86,upstream_gene_variant,,ENST00000602365,;ENKD1,downstream_gene_variant,,ENST00000602409,;C16orf86,upstream_gene_variant,,ENST00000602974,;ENKD1,missense_variant,p.Pro135Leu,ENST00000602415,;ENKD1,non_coding_transcript_exon_variant,,ENST00000602942,;ENKD1,non_coding_transcript_exon_variant,,ENST00000602642,;PARD6A,downstream_gene_variant,,ENST00000602727,;ACD,upstream_gene_variant,,ENST00000602860,;C16orf86,upstream_gene_variant,,ENST00000459925,;ACD,upstream_gene_variant,,ENST00000602821,;ACD,upstream_gene_variant,,ENST00000602423,;ACD,upstream_gene_variant,,ENST00000602945,;ACD,upstream_gene_variant,,ENST00000602780,;C16orf86,upstream_gene_variant,,ENST00000445068,;ACD,upstream_gene_variant,,ENST00000602519,;ACD,upstream_gene_variant,,ENST00000602622,;C16orf86,upstream_gene_variant,,ENST00000602987,;ENKD1,downstream_gene_variant,,ENST00000602531,;	973	137	119	SUCCESS
CTU2	348180	.	GRCh37	16	88780118	88780118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	55	149	2	ENST00000453996.2:c.937A>G	p.Lys313Glu	p.K313E	ENST00000453996	NM_001012759.1	313	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS45545.1	937	RADIA|SOMATICSNIPER|VARSCANS	.	CCCTGAAGGAG	NONE	.	.	HAMAP:MF_03054,hmmpanther:PTHR20882,Pfam_domain:PF10288,Gene3D:3.40.50.620,Superfamily_domains:SSF52402	.	.	ENSP00000388320	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000453996	Transcript	.	.	ENSG00000174177	28005	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CTU2_HUMAN	CTU2	HGNC	H3BNU5_HUMAN,B4DS10_HUMAN	.	UPI0000251EAE	SNV	CTU2,missense_variant,p.Lys313Glu,ENST00000312060,;CTU2,missense_variant,p.Lys226Glu,ENST00000378384,;CTU2,missense_variant,p.Lys384Glu,ENST00000567949,;CTU2,missense_variant,p.Lys313Glu,ENST00000453996,;PIEZO1,downstream_gene_variant,,ENST00000518793,;CTU2,downstream_gene_variant,,ENST00000564921,;CTU2,upstream_gene_variant,,ENST00000567316,;PIEZO1,downstream_gene_variant,,ENST00000327397,;PIEZO1,downstream_gene_variant,,ENST00000301015,;PIEZO1,downstream_gene_variant,,ENST00000466823,;MIR4722,downstream_gene_variant,,ENST00000578292,;RP5-1142A6.9,upstream_gene_variant,,ENST00000564984,;CTU2,3_prime_UTR_variant,,ENST00000564105,;CTU2,non_coding_transcript_exon_variant,,ENST00000564584,;CTU2,non_coding_transcript_exon_variant,,ENST00000566637,;PIEZO1,downstream_gene_variant,,ENST00000419505,;CTU2,upstream_gene_variant,,ENST00000562011,;PIEZO1,downstream_gene_variant,,ENST00000472168,;PIEZO1,downstream_gene_variant,,ENST00000484567,;PIEZO1,downstream_gene_variant,,ENST00000521877,;CTU2,downstream_gene_variant,,ENST00000565071,;PIEZO1,downstream_gene_variant,,ENST00000495568,;	1005	151	152	SUCCESS
SPECC1	92521	.	GRCh37	17	20108938	20108938	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	34	62	2	ENST00000261503.5:c.1576G>A	p.Glu526Lys	p.E526K	ENST00000261503	NM_001033553.2	526	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS32590.1	1576	SOMATICSNIPER|VARSCANS	.	AACTGGAACGG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Glu526Lys,ENST00000395527,;SPECC1,missense_variant,p.Glu445Lys,ENST00000395522,;SPECC1,missense_variant,p.Glu445Lys,ENST00000395525,;SPECC1,missense_variant,p.Glu31Lys,ENST00000581399,;SPECC1,missense_variant,p.Glu526Lys,ENST00000261503,;SPECC1,missense_variant,p.Glu526Lys,ENST00000395529,;SPECC1,missense_variant,p.Glu445Lys,ENST00000395530,;SPECC1,intron_variant,,ENST00000536879,;SPECC1,upstream_gene_variant,,ENST00000582226,;SPECC1,downstream_gene_variant,,ENST00000583463,;SPECC1,upstream_gene_variant,,ENST00000584527,;SPECC1,downstream_gene_variant,,ENST00000581973,;SPECC1,downstream_gene_variant,,ENST00000583482,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,downstream_gene_variant,,ENST00000582063,;SPECC1,downstream_gene_variant,,ENST00000579688,;SPECC1,downstream_gene_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000467722,;	1627	64	159	SUCCESS
CLTC	1213	.	GRCh37	17	57754422	57754422	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1555606635	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	102	1	ENST00000269122.3:c.2669C>T	p.Pro890Leu	p.P890L	ENST00000269122	NM_004859.3	890	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32696.1	2669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCCGGAGA	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371	.	.	ENSP00000269122	.	17/32	.	.	.	.	.	.	.	.	.	17/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Pro890Leu,ENST00000269122,;CLTC,missense_variant,p.Pro890Leu,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,non_coding_transcript_exon_variant,,ENST00000579815,;PTRH2,intron_variant,,ENST00000587935,;	2943	103	99	SUCCESS
C17orf64	124773	.	GRCh37	17	58503178	58503178	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	79	1	ENST00000269127.4:c.86G>A	p.Ser29Asn	p.S29N	ENST00000269127	NM_181707.2	29	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS32698.2	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGCGCCA	NONE	.	.	hmmpanther:PTHR21765	.	.	ENSP00000269127	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000269127	Transcript	.	.	ENSG00000141371	26990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.28)	.	CQ064_HUMAN	C17orf64	HGNC	K7EQ24_HUMAN	.	UPI0000161125	SNV	C17orf64,missense_variant,p.Ser29Asn,ENST00000269127,;C17orf64,5_prime_UTR_variant,,ENST00000474834,;C17orf64,5_prime_UTR_variant,,ENST00000461535,;USP32,upstream_gene_variant,,ENST00000588898,;USP32,upstream_gene_variant,,ENST00000590297,;C17orf64,non_coding_transcript_exon_variant,,ENST00000464714,;	170	80	85	SUCCESS
STRADA	92335	.	GRCh37	17	61791458	61791458	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777619656	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	56	101	1	ENST00000336174.6:c.134C>T	p.Ala45Val	p.A45V	ENST00000336174	NM_001003787.2	45	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32703.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGCATCA	NONE	byFrequency	.	hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361	.	.	ENSP00000336655	.	5/13	.	.	.	.	.	.	.	.	rs777619656,COSM473185	5/13	PASS	ENST00000336174	Transcript	.	.	ENSG00000266173	30172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.471)	.	tolerated(0.14)	0,1	STRAA_HUMAN	STRADA	HGNC	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN	.	UPI000013CBBE	SNV	STRADA,missense_variant,p.Ala16Val,ENST00000582137,;STRADA,missense_variant,p.Ala45Val,ENST00000336174,;STRADA,missense_variant,p.Ala8Val,ENST00000392950,;STRADA,missense_variant,p.Ala8Val,ENST00000579549,;STRADA,missense_variant,p.Ala45Val,ENST00000580288,;STRADA,5_prime_UTR_variant,,ENST00000582030,;STRADA,5_prime_UTR_variant,,ENST00000245865,;STRADA,5_prime_UTR_variant,,ENST00000579340,;STRADA,5_prime_UTR_variant,,ENST00000580338,;STRADA,5_prime_UTR_variant,,ENST00000375840,;STRADA,5_prime_UTR_variant,,ENST00000584110,;STRADA,intron_variant,,ENST00000447001,;STRADA,upstream_gene_variant,,ENST00000578801,;STRADA,upstream_gene_variant,,ENST00000578008,;STRADA,non_coding_transcript_exon_variant,,ENST00000579350,;STRADA,intron_variant,,ENST00000581505,;STRADA,intron_variant,,ENST00000580039,;STRADA,3_prime_UTR_variant,,ENST00000581243,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,non_coding_transcript_exon_variant,,ENST00000579318,;STRADA,non_coding_transcript_exon_variant,,ENST00000577375,;	247	102	120	SUCCESS
TP53	7157	.	GRCh37	17	7577082	7577082	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs786201059	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	59	83	1	ENST00000269305.4:c.856G>A	p.Glu286Lys	p.E286K	ENST00000269305	NM_001126112.2	286	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS11118.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCCTCTG	SITE|p.E286K|c.856G>A|14,SITE|p.E286K|c.856G>A|10,SITE|p.E286K|c.856G>A|23,SITE|p.E286K|c.856G>A|75,CODON|p.0?|c.1_1182del1182|6,CODON|p.E286E|c.858A>G|3,CODON|p.E286G|c.857A>G|4,CODON|p.E286V|c.857A>T|9,CODON|p.E286G|c.857A>G|18,BUFFER|p.N288fs*13|c.859_872del14|17,BUFFER|p.L289L|c.867C>T|3,BUFFER|p.L289F|c.865C>T|3,BUFFER|p.N288S|c.863A>G|6,BUFFER|p.N288Y|c.862A>T|3,BUFFER|p.E287E|c.861G>A|5,BUFFER|p.E287K|c.859G>A|6,BUFFER|p.E287*|c.859G>T|3,BUFFER|p.E287*|c.859G>T|12,BUFFER|p.E286*|c.856G>T|17,BUFFER|p.E286Q|c.856G>C|6,BUFFER|p.E286*|c.856G>T|3,BUFFER|p.E285E|c.855G>A|3,BUFFER|p.E285V|c.854A>T|3,BUFFER|p.E285G|c.854A>G|4,BUFFER|p.E285V|c.854A>T|17,BUFFER|p.E285V|c.854A>T|4,BUFFER|p.E285K|c.853G>A|19,BUFFER|p.E285*|c.853G>T|5,BUFFER|p.E285K|c.853G>A|114,BUFFER|p.E285*|c.853G>T|9,BUFFER|p.E285Q|c.853G>C|4,BUFFER|p.E285*|c.853G>T|25,BUFFER|p.E285K|c.853G>A|5,BUFFER|p.E285K|c.853G>A|9,BUFFER|p.T284T|c.852A>T|3,BUFFER|p.T284A|c.850A>G|3,BUFFER|p.T284P|c.850A>C|8,BUFFER|p.R283fs*62|c.847delC|3,BUFFER|p.R283P|c.848G>C|4,BUFFER|p.R283H|c.848G>A|12,BUFFER|p.R283L|c.848G>T|4,BUFFER|p.R283P|c.848G>C|24,BUFFER|p.R283C|c.847C>T|19,BUFFER|p.R282R|c.846G>A|4,BUFFER|p.R282Q|c.845G>A|5,BUFFER|p.R282Q|c.845G>A|26,BUFFER|p.R282L|c.845G>T|3,BUFFER|p.R282Q|c.845G>A|3,BUFFER|p.R282P|c.845G>C|17,BUFFER|p.R282W|c.843_844CC>TT|10	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM076567,TP53_g.13836G>C,TP53_g.13836del,TP53_g.13836G>T,TP53_g.13836G>A,COSM44250,COSM10726,COSM43919,COSM45277,COSM99924,COSM1480057,COSM318163,COSM3522693,COSM1645467,COSM1649346	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.982)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Glu286Lys,ENST00000420246,;TP53,missense_variant,p.Glu286Lys,ENST00000269305,;TP53,missense_variant,p.Glu154Lys,ENST00000509690,;TP53,missense_variant,p.Glu286Lys,ENST00000359597,;TP53,missense_variant,p.Glu286Lys,ENST00000445888,;TP53,missense_variant,p.Glu286Lys,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1046	84	96	SUCCESS
MYOM1	8736	.	GRCh37	18	3083787	3083787	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	38	0	ENST00000356443.4:c.4484A>T	p.Asn1495Ile	p.N1495I	ENST00000356443	NM_019856.1	1495	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS45824.1	4484	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACTTGTGG	NONE	.	.	hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000348821	.	33/38	.	.	.	.	.	.	.	.	.	33/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.25)	.	deleterious(0)	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Asn1495Ile,ENST00000356443,;MYOM1,missense_variant,p.Asn1495Ile,ENST00000400569,;MYOM1,missense_variant,p.Asn1399Ile,ENST00000261606,;MYOM1,splice_region_variant,,ENST00000581075,;	4818	38	59	SUCCESS
PTPRM	5797	.	GRCh37	18	8143667	8143667	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	68	130	1	ENST00000332175.8:c.2190C>G	p.Val730=	p.V730=	ENST00000332175	NM_002845.3	730	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS58613.1	2190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCCCAGA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206	.	.	ENSP00000463325	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,synonymous_variant,p.%3D,ENST00000332175,;PTPRM,synonymous_variant,p.%3D,ENST00000583289,;PTPRM,synonymous_variant,p.%3D,ENST00000400060,;PTPRM,synonymous_variant,p.%3D,ENST00000400053,;PTPRM,synonymous_variant,p.%3D,ENST00000444013,;PTPRM,synonymous_variant,p.%3D,ENST00000577468,;PTPRM,synonymous_variant,p.%3D,ENST00000580170,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	3227	132	115	SUCCESS
ZNF791	163049	.	GRCh37	19	12739344	12739344	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	35	0	ENST00000343325.4:c.1001G>A	p.Gly334Glu	p.G334E	ENST00000343325	NM_153358.2	334	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12273.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGGGAAAT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000342974	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343325	Transcript	.	.	ENSG00000173875	26895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.05)	.	ZN791_HUMAN	ZNF791	HGNC	M0R0E8_HUMAN,F5GXD7_HUMAN,B7Z586_HUMAN	.	UPI0000203455	SNV	ZNF791,missense_variant,p.Gly334Glu,ENST00000343325,;ZNF791,missense_variant,p.Gly225Glu,ENST00000540038,;ZNF791,missense_variant,p.Gly302Glu,ENST00000458122,;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;AC010422.1,upstream_gene_variant,,ENST00000408416,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,;	1163	35	45	SUCCESS
LPHN1	0	.	GRCh37	19	14274081	14274081	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369670781	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	41	128	0	ENST00000340736.6:c.547C>T	p.Arg183Cys	p.R183C	ENST00000340736	NM_001008701.2	183	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS32928.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCGGTAGG	NONE	byFrequency|byCluster	.	SMART_domains:SM00284,Pfam_domain:PF02191,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF62,PROSITE_profiles:PS51132	.	A:0.0001	ENSP00000340688	.	6/24	.	.	.	.	.	.	.	.	rs369670781,COSM3529323	6/24	PASS	ENST00000340736	Transcript	.	.	ENSG00000072071	20973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	LPHN1_HUMAN	LPHN1	HGNC	.	.	UPI000005046A	SNV	LPHN1,missense_variant,p.Arg178Cys,ENST00000361434,;LPHN1,missense_variant,p.Arg183Cys,ENST00000340736,;LPHN1,upstream_gene_variant,,ENST00000589616,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000592086,;LPHN1,non_coding_transcript_exon_variant,,ENST00000591528,;LPHN1,upstream_gene_variant,,ENST00000588677,;	845	128	152	SUCCESS
ZNF43	7594	.	GRCh37	19	22002022	22002022	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	46	110	1	ENST00000354959.4:c.5G>T	p.Gly2Val	p.G2V	ENST00000354959	NM_003423.3	2	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12413.2	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCCCTAA	BUFFER|p.?|c.4-3delt|4	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,Superfamily_domains:0044637	.	.	ENSP00000347045	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,missense_variant,p.Gly2Val,ENST00000354959,;ZNF43,splice_region_variant,,ENST00000595461,;ZNF43,splice_region_variant,,ENST00000593551,;ZNF43,splice_region_variant,,ENST00000598288,;ZNF43,splice_region_variant,,ENST00000594012,;ZNF43,splice_region_variant,,ENST00000598381,;ZNF43,intron_variant,,ENST00000599906,;ZNF43,intron_variant,,ENST00000596899,;	175	111	113	SUCCESS
RBM42	79171	.	GRCh37	19	36120002	36120002	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	12	0	ENST00000262633.4:c.-54A>G		p.*18*	ENST00000262633	NM_024321.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12468.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCAGCGGC	NONE	.	.	.	.	.	ENSP00000262633	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000262633	Transcript	.	.	ENSG00000126254	28117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM42_HUMAN	RBM42	HGNC	.	.	UPI000006D046	SNV	RBM42,5_prime_UTR_variant,,ENST00000588161,;RBM42,5_prime_UTR_variant,,ENST00000262633,;RBM42,5_prime_UTR_variant,,ENST00000592202,;RBM42,5_prime_UTR_variant,,ENST00000360475,;RBM42,5_prime_UTR_variant,,ENST00000589559,;RBM42,5_prime_UTR_variant,,ENST00000586618,;HAUS5,downstream_gene_variant,,ENST00000203166,;RBM42,upstream_gene_variant,,ENST00000589871,;RBM42,non_coding_transcript_exon_variant,,ENST00000592526,;HAUS5,downstream_gene_variant,,ENST00000428854,;HAUS5,downstream_gene_variant,,ENST00000424522,;	52	12	28	SUCCESS
PSG8	440533	.	GRCh37	19	43259369	43259369	+	synonymous_variant	Silent	SNP	C	C	T	rs144938138	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	31	119	2	ENST00000306511.4:c.759G>A	p.Glu253=	p.E253=	ENST00000306511	NM_182707.2	253	gaG/gaA	0	G:0.0002	.	.	.	.	T	E	protein_coding	YES	CCDS33037.1	759	RADIA|SOMATICSNIPER|VARSCANS	.	TTATTCTCCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408	.	G:0	ENSP00000305005	.	4/5	.	.	.	.	.	.	.	.	rs144938138	4/5	PASS	ENST00000306511	Transcript	.	.	ENSG00000124467	9525	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSG8_HUMAN	PSG8	HGNC	.	.	UPI0000071471	SNV	PSG8,synonymous_variant,p.%3D,ENST00000404209,;PSG8,synonymous_variant,p.%3D,ENST00000406636,;PSG8,synonymous_variant,p.%3D,ENST00000306511,;PSG8,synonymous_variant,p.%3D,ENST00000401467,;PSG8,non_coding_transcript_exon_variant,,ENST00000469260,;PSG8,intron_variant,,ENST00000600709,;PSG8,3_prime_UTR_variant,,ENST00000478387,;PSG8,non_coding_transcript_exon_variant,,ENST00000466163,;	857	121	107	SUCCESS
CLPTM1	1209	.	GRCh37	19	45488541	45488541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	102	0	ENST00000337392.5:c.652G>A	p.Ala218Thr	p.A218T	ENST00000337392	NM_001294.2	218	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12651.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAGCGGAC	NONE	.	.	hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0,Pfam_domain:PF05602	.	.	ENSP00000336994	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000337392	Transcript	.	.	ENSG00000104853	2087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	tolerated(0.19)	.	CLPT1_HUMAN	CLPTM1	HGNC	K7EKQ7_HUMAN,B4DDS3_HUMAN	.	UPI0000072CBA	SNV	CLPTM1,missense_variant,p.Ala165Thr,ENST00000591304,;CLPTM1,missense_variant,p.Ala218Thr,ENST00000337392,;CLPTM1,missense_variant,p.Ala204Thr,ENST00000541297,;CLPTM1,missense_variant,p.Ala116Thr,ENST00000546079,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000589158,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588855,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000587537,;CLPTM1,upstream_gene_variant,,ENST00000586975,;CLPTM1,upstream_gene_variant,,ENST00000589347,;CLPTM1,upstream_gene_variant,,ENST00000588274,;	802	102	92	SUCCESS
VN1R4	317703	.	GRCh37	19	53770602	53770602	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	259	37	299	0	ENST00000311170.4:c.317T>G	p.Val106Gly	p.V106G	ENST00000311170	NM_173857.2	106	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS33099.1	317	RADIA|MUTECT|MUSE|VARSCANS	.	TGATCACCTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF59,Gene3D:1.20.1070.10,Pfam_domain:PF03402,Superfamily_domains:SSF81321	.	.	ENSP00000310856	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311170	Transcript	.	.	ENSG00000228567	19871	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.373)	.	deleterious(0)	.	VN1R4_HUMAN	VN1R4	HGNC	.	.	UPI000004B23A	SNV	VN1R4,missense_variant,p.Val106Gly,ENST00000311170,;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;	371	299	296	SUCCESS
MUC16	94025	.	GRCh37	19	9060557	9060557	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	59	283	0	ENST00000397910.4:c.26889C>T	p.Ser8963=	p.S8963=	ENST00000397910	NM_024690.2	8963	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54212.1	26889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGGATGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	27093	283	285	SUCCESS
ARID3A	1820	.	GRCh37	19	932472	932472	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	50	0	ENST00000263620.3:c.423G>C	p.Glu141Asp	p.E141D	ENST00000263620	NM_005224.2	141	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS12050.1	423	RADIA|SOMATICSNIPER|VARSCANS	.	GAGGAGGAGGA	NONE	.	.	hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF1,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000263620	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000263620	Transcript	.	.	ENSG00000116017	3031	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.5)	.	ARI3A_HUMAN	ARID3A	HGNC	.	.	UPI0000129881	SNV	ARID3A,missense_variant,p.Glu141Asp,ENST00000263620,;ARID3A,upstream_gene_variant,,ENST00000587532,;AC005391.2,upstream_gene_variant,,ENST00000585647,;ARID3A,downstream_gene_variant,,ENST00000592216,;ARID3A,downstream_gene_variant,,ENST00000592916,;ARID3A,downstream_gene_variant,,ENST00000585895,;	750	50	52	SUCCESS
SPAG17	200162	.	GRCh37	1	118629516	118629516	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	166	0	ENST00000336338.5:c.1475G>T	p.Cys492Phe	p.C492F	ENST00000336338	NM_206996.2	492	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS899.1	1475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACAGAGT	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	11/49	.	.	.	.	.	.	.	.	COSM1333186	11/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Cys492Phe,ENST00000336338,;SPAG17,non_coding_transcript_exon_variant,,ENST00000463628,;	1541	166	112	SUCCESS
TARS2	80222	.	GRCh37	1	150461451	150461451	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	63	0	ENST00000369064.3:c.275C>G	p.Ala92Gly	p.A92G	ENST00000369064	NM_025150.4	92	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS952.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCAGATA	NONE	.	.	hmmpanther:PTHR11451:SF13,hmmpanther:PTHR11451,Gene3D:3.10.20.30,Pfam_domain:PF02824,Superfamily_domains:SSF81271	.	.	ENSP00000358060	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000369064	Transcript	.	.	ENSG00000143374	30740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	SYTM_HUMAN	TARS2	HGNC	Q9H045_HUMAN	.	UPI00000492D1	SNV	TARS2,missense_variant,p.Ala92Gly,ENST00000369054,;TARS2,missense_variant,p.Ala92Gly,ENST00000438568,;TARS2,missense_variant,p.Ala92Gly,ENST00000369064,;TARS2,missense_variant,p.Ala92Gly,ENST00000606933,;TARS2,upstream_gene_variant,,ENST00000463555,;TARS2,upstream_gene_variant,,ENST00000480070,;TARS2,missense_variant,p.Ala66Gly,ENST00000467982,;TARS2,missense_variant,p.Ala92Gly,ENST00000369051,;TARS2,non_coding_transcript_exon_variant,,ENST00000466989,;TARS2,non_coding_transcript_exon_variant,,ENST00000369053,;TARS2,downstream_gene_variant,,ENST00000479372,;TARS2,upstream_gene_variant,,ENST00000462578,;TARS2,upstream_gene_variant,,ENST00000460794,;	309	63	92	SUCCESS
CRNN	49860	.	GRCh37	1	152382192	152382192	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	278	32	210	0	ENST00000271835.3:c.1366G>C	p.Asp456His	p.D456H	ENST00000271835	NM_016190.2	456	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS1010.1	1366	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCCAGCC	NONE	.	.	hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639	.	.	ENSP00000271835	.	3/3	.	.	.	.	.	.	.	.	COSM3474181	3/3	PASS	ENST00000271835	Transcript	.	.	ENSG00000143536	1230	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.917)	.	deleterious(0.01)	1	CRNN_HUMAN	CRNN	HGNC	.	.	UPI000006E106	SNV	CRNN,missense_variant,p.Asp456His,ENST00000271835,;RP1-91G5.3,intron_variant,,ENST00000411804,;	1429	210	310	SUCCESS
DEDD	9191	.	GRCh37	1	161091967	161091967	+	synonymous_variant	Silent	SNP	C	C	G	rs1187099077	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	65	202	1	ENST00000368006.3:c.927G>C	p.Leu309=	p.L309=	ENST00000368006	NM_032998.2	309	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1219.1	927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTCAGGAG	NONE	.	.	hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF2	.	.	ENSP00000356985	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000368006	Transcript	.	.	ENSG00000158796	2755	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEDD_HUMAN	DEDD	HGNC	.	.	UPI0000031CE9	SNV	DEDD,synonymous_variant,p.%3D,ENST00000490843,;DEDD,synonymous_variant,p.%3D,ENST00000368006,;DEDD,synonymous_variant,p.%3D,ENST00000458050,;DEDD,synonymous_variant,p.%3D,ENST00000392188,;DEDD,synonymous_variant,p.%3D,ENST00000368005,;DEDD,synonymous_variant,p.%3D,ENST00000545495,;NIT1,intron_variant,,ENST00000368008,;NIT1,downstream_gene_variant,,ENST00000368009,;DEDD,downstream_gene_variant,,ENST00000464113,;PFDN2,upstream_gene_variant,,ENST00000368010,;NIT1,downstream_gene_variant,,ENST00000392190,;NIT1,downstream_gene_variant,,ENST00000368007,;DEDD,non_coding_transcript_exon_variant,,ENST00000486041,;DEDD,non_coding_transcript_exon_variant,,ENST00000489249,;DEDD,intron_variant,,ENST00000472996,;NIT1,downstream_gene_variant,,ENST00000478277,;NIT1,downstream_gene_variant,,ENST00000486962,;NIT1,downstream_gene_variant,,ENST00000461376,;NIT1,downstream_gene_variant,,ENST00000491497,;NIT1,downstream_gene_variant,,ENST00000473918,;NIT1,downstream_gene_variant,,ENST00000496768,;NIT1,downstream_gene_variant,,ENST00000477684,;NIT1,upstream_gene_variant,,ENST00000479728,;PFDN2,upstream_gene_variant,,ENST00000468311,;NIT1,downstream_gene_variant,,ENST00000496861,;DEDD,downstream_gene_variant,,ENST00000473679,;NIT1,downstream_gene_variant,,ENST00000492411,;DEDD,downstream_gene_variant,,ENST00000496632,;NIT1,downstream_gene_variant,,ENST00000485594,;DEDD,downstream_gene_variant,,ENST00000463227,;NIT1,downstream_gene_variant,,ENST00000479266,;	1142	203	195	SUCCESS
C1orf110	0	.	GRCh37	1	162824806	162824806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	23	224	0	ENST00000367910.1:c.658G>T	p.Gly220Trp	p.G220W	ENST00000367910	NM_178550.4	220	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS44269.1	658	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCATCTG	NONE	.	.	.	.	.	ENSP00000356886	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367910	Transcript	.	.	ENSG00000185860	28736	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.418)	.	tolerated(0.19)	.	CA110_HUMAN	C1orf110	HGNC	.	.	UPI0000198631	SNV	C1orf110,missense_variant,p.Gly220Trp,ENST00000367910,;C1orf110,intron_variant,,ENST00000367911,;C1orf110,intron_variant,,ENST00000367912,;C1orf110,intron_variant,,ENST00000524691,;C1orf110,downstream_gene_variant,,ENST00000524710,;	779	224	237	SUCCESS
CACNA1E	777	.	GRCh37	1	181725193	181725193	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	55	134	0	ENST00000367573.2:c.4093del	p.Leu1365SerfsTer18	p.L1365Sfs*18	ENST00000367573	NM_001205293.1	1364	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS55664.1	4091	INDELOCATOR|VARSCANI	.	TGCTGACCCTCT	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	29/48	.	.	.	.	.	.	.	.	.	29/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	deletion	CACNA1E,frameshift_variant,p.Leu1297SerfsTer18,ENST00000358338,;CACNA1E,frameshift_variant,p.Leu972SerfsTer18,ENST00000367567,;CACNA1E,frameshift_variant,p.Leu1316SerfsTer18,ENST00000357570,;CACNA1E,frameshift_variant,p.Leu1346SerfsTer18,ENST00000360108,;CACNA1E,frameshift_variant,p.Leu1346SerfsTer18,ENST00000526775,;CACNA1E,frameshift_variant,p.Leu1365SerfsTer18,ENST00000367573,;CACNA1E,frameshift_variant,p.Leu1365SerfsTer18,ENST00000367570,;	4091	134	143	SUCCESS
DHX9	1660	.	GRCh37	1	182852766	182852766	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	107	1	ENST00000367549.3:c.3256G>A	p.Asp1086Asn	p.D1086N	ENST00000367549	NM_001357.4	1086	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS41444.1	3256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATGACTGG	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934	.	.	ENSP00000356520	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.77)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Asp1086Asn,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000473076,;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,downstream_gene_variant,,ENST00000474446,;	3366	108	100	SUCCESS
PKP1	5317	.	GRCh37	1	201291111	201291111	+	synonymous_variant	Silent	SNP	G	G	A	rs376484047	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	16	104	0	ENST00000263946.3:c.1416G>A	p.Val472=	p.V472=	ENST00000263946	NM_000299.3	472	gtG/gtA	0	A:0.0002	.	.	.	.	A	V	protein_coding	YES	CCDS30966.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGGAAAA	NONE	byCluster	.	hmmpanther:PTHR10372:SF3,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	A:0	ENSP00000263946	.	9/15	.	.	.	.	.	.	.	.	rs376484047	9/15	PASS	ENST00000263946	Transcript	.	.	ENSG00000081277	9023	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKP1_HUMAN	PKP1	HGNC	B4DRX5_HUMAN	.	UPI0000131B86	SNV	PKP1,synonymous_variant,p.%3D,ENST00000352845,;PKP1,synonymous_variant,p.%3D,ENST00000263946,;PKP1,synonymous_variant,p.%3D,ENST00000367324,;PKP1,downstream_gene_variant,,ENST00000475988,;	1667	104	106	SUCCESS
USH2A	7399	.	GRCh37	1	216173842	216173842	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	18	141	0	ENST00000307340.3:c.6388A>G	p.Asn2130Asp	p.N2130D	ENST00000307340	NM_206933.2	2130	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS31025.1	6388	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTTTGTAC	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	33/72	.	.	.	.	.	.	.	.	.	33/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Asn2130Asp,ENST00000366943,;USH2A,missense_variant,p.Asn2130Asp,ENST00000307340,;	6775	141	148	SUCCESS
USH2A	7399	.	GRCh37	1	216373074	216373074	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	99	1	ENST00000307340.3:c.3706G>C	p.Val1236Leu	p.V1236L	ENST00000307340	NM_206933.2	1236	Gtg/Ctg	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS31025.1	3706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCACTGTAA	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	17/72	.	.	.	.	.	.	.	.	.	17/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Val1236Leu,ENST00000366942,;USH2A,missense_variant,p.Val1236Leu,ENST00000366943,;USH2A,missense_variant,p.Val1236Leu,ENST00000307340,;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	4093	100	93	SUCCESS
DISC1	27185	.	GRCh37	1	231858293	231858293	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	11	103	0	ENST00000439617.2:c.1117+20523A>G		p.*373*	ENST00000439617	NM_001164540.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53482.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAACCAATTGC	NONE	.	.	.	.	.	ENSP00000355593	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,synonymous_variant,p.%3D,ENST00000317586,;DISC1,intron_variant,,ENST00000366637,;DISC1,intron_variant,,ENST00000539444,;DISC1,intron_variant,,ENST00000439617,;DISC1,intron_variant,,ENST00000602873,;DISC1,intron_variant,,ENST00000535983,;DISC1,intron_variant,,ENST00000602281,;DISC1,intron_variant,,ENST00000366633,;DISC1,intron_variant,,ENST00000366636,;DISC1,intron_variant,,ENST00000537876,;TSNAX-DISC1,intron_variant,,ENST00000602634,;DISC1,intron_variant,,ENST00000295051,;TSNAX-DISC1,intron_variant,,ENST00000602962,;TSNAX-DISC1,intron_variant,,ENST00000602885,;DISC1,intron_variant,,ENST00000602822,;DISC1,intron_variant,,ENST00000366632,;TSNAX-DISC1,intron_variant,,ENST00000602956,;DISC1,intron_variant,,ENST00000422590,;DISC1,intron_variant,,ENST00000602713,;DISC1,intron_variant,,ENST00000602700,;TSNAX-DISC1,intron_variant,,ENST00000602567,;DISC1,intron_variant,,ENST00000535944,;	.	103	108	SUCCESS
RER1	11079	.	GRCh37	1	2333628	2333628	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	7	215	0	ENST00000488353.1:c.366-18T>C		p.*122*	ENST00000488353				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41232.1	.	MUTECT|MUSE	.	TAACCTTCTCT	NONE	.	.	.	.	.	ENSP00000475168	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605895	Transcript	.	.	ENSG00000157916	30309	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RER1_HUMAN	RER1	HGNC	Q5T094_HUMAN,Q5T092_HUMAN	.	UPI0000000C69	SNV	RER1,missense_variant,p.Leu153Pro,ENST00000378512,;RER1,intron_variant,,ENST00000378513,;RER1,intron_variant,,ENST00000488353,;RER1,intron_variant,,ENST00000605895,;RER1,intron_variant,,ENST00000378518,;RER1,intron_variant,,ENST00000306256,;RER1,intron_variant,,ENST00000443438,;PEX10,downstream_gene_variant,,ENST00000447513,;PEX10,downstream_gene_variant,,ENST00000507596,;PEX10,downstream_gene_variant,,ENST00000288774,;RER1,non_coding_transcript_exon_variant,,ENST00000462129,;PEX10,downstream_gene_variant,,ENST00000510434,;	.	215	193	SUCCESS
ROR1	4919	.	GRCh37	1	64624861	64624861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	110	1	ENST00000371079.1:c.1372G>T	p.Ala458Ser	p.A458S	ENST00000371079	NM_005012.3	458	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS626.1	1372	MUTECT|MUSE	.	TGAATGCATAT	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000624	.	.	ENSP00000360120	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000371079	Transcript	.	.	ENSG00000185483	10256	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.5)	.	ROR1_HUMAN	ROR1	HGNC	.	.	UPI00001AF82C	SNV	ROR1,missense_variant,p.Ala458Ser,ENST00000371079,;ROR1,5_prime_UTR_variant,,ENST00000545203,;RP11-24J23.2,intron_variant,,ENST00000424995,;	1747	111	90	SUCCESS
CCBL2	0	.	GRCh37	1	89414796	89414796	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	143	2	ENST00000260508.4:c.1119C>T	p.Ile373=	p.I373=	ENST00000260508	NM_001008661.2	373	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS30766.1	1119	RADIA|VARSCANS	.	GCGATGATGAA	NONE	.	.	hmmpanther:PTHR11751:SF336,hmmpanther:PTHR11751,Gene3D:3.90.1150.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383	.	.	ENSP00000260508	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000260508	Transcript	.	.	ENSG00000137944	33238	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAT3_HUMAN	CCBL2	HGNC	B4DW13_HUMAN	.	UPI0000155712	SNV	CCBL2,synonymous_variant,p.%3D,ENST00000370491,;CCBL2,synonymous_variant,p.%3D,ENST00000260508,;CCBL2,3_prime_UTR_variant,,ENST00000370485,;CCBL2,non_coding_transcript_exon_variant,,ENST00000446900,;	1457	145	97	SUCCESS
GBP4	115361	.	GRCh37	1	89664559	89664561	+	5_prime_UTR_variant	5'UTR	DEL	TTC	TTC	-	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	56	0	ENST00000355754.6:c.-44_-42del		p.*15*	ENST00000355754	NM_052941.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS721.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTGTTCTTAGA	NONE	.	.	.	.	.	ENSP00000359490	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000355754	Transcript	.	.	ENSG00000162654	20480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBP4_HUMAN	GBP4	HGNC	B4E2F1_HUMAN	.	UPI000013E1A4	deletion	GBP4,5_prime_UTR_variant,,ENST00000355754,;	55-57	56	34	SUCCESS
KIF16B	55614	.	GRCh37	20	16410519	16410523	+	frameshift_variant	Frame_Shift_Del	DEL	ATAAG	ATAAG	-	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	ATAAG	ATAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	26	0	ENST00000354981.2:c.1407_1411del	p.Leu470SerfsTer11	p.L470Sfs*11	ENST00000354981	NM_024704.4	469	atCTTATat/atat	0	.	.	.	.	.	-	ILY/IX	protein_coding	YES	CCDS56178.1	1407-1411	INDELOCATOR|VARSCANI	.	AATGATATAAGATGAT	NONE	.	.	hmmpanther:PTHR24115:SF400,hmmpanther:PTHR24115,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000384164	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000408042	Transcript	.	.	ENSG00000089177	15869	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI16B_HUMAN	KIF16B	HGNC	.	.	UPI00003BF77C	deletion	KIF16B,frameshift_variant,p.Leu470SerfsTer11,ENST00000408042,;KIF16B,frameshift_variant,p.Leu470SerfsTer11,ENST00000354981,;KIF16B,frameshift_variant,p.Leu470SerfsTer11,ENST00000355755,;KIF16B,5_prime_UTR_variant,,ENST00000378003,;	1565-1569	26	20	SUCCESS
PTPRT	11122	.	GRCh37	20	40980875	40980875	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	13	88	0	ENST00000373198.4:c.1611C>G	p.Ser537Arg	p.S537R	ENST00000373198	NM_133170.3	537	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS42874.1	1611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGCTCGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000362283	.	10/31	.	.	.	.	.	.	.	.	COSM1533804	10/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.21)	1	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Ser537Arg,ENST00000373201,;PTPRT,missense_variant,p.Ser537Arg,ENST00000356100,;PTPRT,missense_variant,p.Ser537Arg,ENST00000373198,;PTPRT,missense_variant,p.Ser537Arg,ENST00000373193,;PTPRT,missense_variant,p.Ser537Arg,ENST00000373184,;PTPRT,missense_variant,p.Ser537Arg,ENST00000373190,;PTPRT,missense_variant,p.Ser537Arg,ENST00000373187,;	1611	88	74	SUCCESS
TBC1D20	128637	.	GRCh37	20	422333	422333	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	63	190	2	ENST00000354200.4:c.525G>T	p.Arg175Ser	p.R175S	ENST00000354200	NM_144628.2	175	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS13002.1	525	RADIA|SOMATICSNIPER|VARSCANS	.	AAATCCCTGGA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR20913:SF10,hmmpanther:PTHR20913,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000346139	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000354200	Transcript	1	.	ENSG00000125875	16133	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0.03)	.	TBC20_HUMAN	TBC1D20	HGNC	B9A6M1_HUMAN	.	UPI000006D549	SNV	TBC1D20,missense_variant,p.Arg175Ser,ENST00000354200,;TBC1D20,non_coding_transcript_exon_variant,,ENST00000494633,;TBC1D20,non_coding_transcript_exon_variant,,ENST00000461188,;TBC1D20,missense_variant,p.Arg175Ser,ENST00000461304,;	673	192	185	SUCCESS
C20orf196	0	.	GRCh37	20	5843711	5843711	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758092845	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	9	74	0	ENST00000303142.6:c.220G>A	p.Ala74Thr	p.A74T	ENST00000303142	NM_152504.2	74	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13091.1	220	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCGCTGAG	NONE	.	.	Pfam_domain:PF15021	.	.	ENSP00000305875	.	3/3	.	.	.	.	.	.	.	.	rs758092845	3/3	PASS	ENST00000303142	Transcript	.	.	ENSG00000171984	26318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.15)	.	CT196_HUMAN	C20orf196	HGNC	.	.	UPI0000074251	SNV	C20orf196,missense_variant,p.Ala121Thr,ENST00000442185,;C20orf196,missense_variant,p.Ala74Thr,ENST00000303142,;C20orf196,missense_variant,p.Ala74Thr,ENST00000445603,;	307	74	83	SUCCESS
TPTE	7179	.	GRCh37	21	10998311	10998311	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	327	38	507	0	ENST00000415664.2:n.1242G>C		p.*414*	ENST00000415664				0	.	.	.	.	.	G	.	processed_transcript	.	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCCATCA	NONE	.	.	.	.	.	.	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000415664	Transcript	.	.	ENSG00000166157	12023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	TPTE	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1242	507	365	SUCCESS
PI4KA	5297	.	GRCh37	22	21153477	21153477	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	57	0	ENST00000255882.6:c.1908C>T	p.Pro636=	p.P636=	ENST00000255882	NM_058004.3	636	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33603.2	1908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATGGGCTC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15	.	.	ENSP00000255882	.	16/55	.	.	.	.	.	.	.	.	.	16/55	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,synonymous_variant,p.%3D,ENST00000572273,;PI4KA,synonymous_variant,p.%3D,ENST00000255882,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485950,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485963,;PI4KA,upstream_gene_variant,,ENST00000484220,;	1995	57	60	SUCCESS
ZNF280B	140883	.	GRCh37	22	22843682	22843682	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	39	279	0	ENST00000360412.2:c.42G>A	p.Gln14=	p.Q14=	ENST00000360412	NM_080764.2	14	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13799.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTGTGG	NONE	.	.	hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228,Low_complexity_(Seg):seg	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,synonymous_variant,p.%3D,ENST00000406426,;ZNF280B,synonymous_variant,p.%3D,ENST00000360412,;	818	279	255	SUCCESS
CSDC2	27254	.	GRCh37	22	41967939	41967939	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	19	22	0	ENST00000306149.7:c.-31G>A		p.*11*	ENST00000306149	NM_014460.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14019.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGAGCCC	NONE	.	.	.	.	.	ENSP00000302485	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000306149	Transcript	.	.	ENSG00000172346	30359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSDC2_HUMAN	CSDC2	HGNC	.	.	UPI000006D88D	SNV	CSDC2,5_prime_UTR_variant,,ENST00000306149,;CSDC2,upstream_gene_variant,,ENST00000460790,;PMM1,downstream_gene_variant,,ENST00000216259,;PMM1,downstream_gene_variant,,ENST00000463617,;PMM1,downstream_gene_variant,,ENST00000482178,;PMM1,downstream_gene_variant,,ENST00000472620,;	514	22	27	SUCCESS
CELSR1	9620	.	GRCh37	22	46772959	46772959	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs533045376	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	71	1	ENST00000262738.3:c.7583C>T	p.Pro2528Leu	p.P2528L	ENST00000262738	NM_014246.1	2528	cCg/cTg	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS14076.1	7583	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCGGGTTT	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR24026,PROSITE_profiles:PS50261	A:0	.	ENSP00000262738	A:0	24/35	.	.	.	.	.	.	.	.	rs533045376	24/35	PASS	ENST00000262738	Transcript	.	A:0.0004	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.631)	A:0.002	deleterious(0.03)	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Pro2528Leu,ENST00000262738,;CELSR1,splice_region_variant,,ENST00000468025,;	7583	72	54	SUCCESS
GREB1	9687	.	GRCh37	2	11752722	11752722	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	34	190	1	ENST00000234142.5:c.3108G>A	p.Gly1036=	p.G1036=	ENST00000234142		1036	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42655.1	3108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGGAGTC	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,synonymous_variant,p.%3D,ENST00000234142,;GREB1,synonymous_variant,p.%3D,ENST00000396123,;GREB1,synonymous_variant,p.%3D,ENST00000381486,;GREB1,downstream_gene_variant,,ENST00000432985,;GREB1,non_coding_transcript_exon_variant,,ENST00000472040,;	3408	191	160	SUCCESS
MAP2	4133	.	GRCh37	2	210574887	210574887	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1487230722	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	19	156	0	ENST00000360351.4:c.4982G>A	p.Arg1661Gln	p.R1661Q	ENST00000360351	NM_002374.3	1661	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS2384.1	4982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGGCTTA	NONE	.	.	PROSITE_profiles:PS51491,hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF00418	.	.	ENSP00000353508	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.09)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Arg1657Gln,ENST00000447185,;MAP2,missense_variant,p.Arg305Gln,ENST00000361559,;MAP2,missense_variant,p.Arg1661Gln,ENST00000360351,;MAP2,missense_variant,p.Arg362Gln,ENST00000199940,;MAP2,missense_variant,p.Arg305Gln,ENST00000392194,;MAP2,downstream_gene_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000473543,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;MAP2,non_coding_transcript_exon_variant,,ENST00000471619,;MAP2,non_coding_transcript_exon_variant,,ENST00000478233,;MAP2,downstream_gene_variant,,ENST00000464007,;	5488	156	134	SUCCESS
FN1	2335	.	GRCh37	2	216249663	216249663	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs202245868	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	260	37	332	0	ENST00000359671.1:c.4376C>A	p.Ala1459Glu	p.A1459E	ENST00000359671		1459	gCg/gAg	0	.	A:0	.	A:0	.	T	A/E	protein_coding	YES	CCDS42814.1	4649	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCGCAGCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	A:0	.	ENSP00000346839	A:0.001	29/46	.	.	.	.	.	.	.	.	rs202245868	29/46	PASS	ENST00000354785	Transcript	.	A:0.0002	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.246)	A:0	deleterious(0.04)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Ala1550Glu,ENST00000432072,;FN1,missense_variant,p.Ala1459Glu,ENST00000443816,;FN1,missense_variant,p.Ala1459Glu,ENST00000345488,;FN1,missense_variant,p.Ala1550Glu,ENST00000354785,;FN1,missense_variant,p.Ala1459Glu,ENST00000359671,;FN1,missense_variant,p.Ala1459Glu,ENST00000357009,;FN1,missense_variant,p.Ala1459Glu,ENST00000446046,;FN1,missense_variant,p.Ala1459Glu,ENST00000357867,;FN1,missense_variant,p.Ala1459Glu,ENST00000421182,;FN1,missense_variant,p.Ala1459Glu,ENST00000346544,;FN1,missense_variant,p.Ala1459Glu,ENST00000336916,;FN1,missense_variant,p.Ala266Glu,ENST00000456923,;FN1,missense_variant,p.Ala1550Glu,ENST00000323926,;FN1,missense_variant,p.Ala1459Glu,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000474036,;FN1,upstream_gene_variant,,ENST00000480737,;	5019	332	297	SUCCESS
OBSL1	23363	.	GRCh37	2	220421321	220421321	+	synonymous_variant	Silent	SNP	G	G	A	rs747358446	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	109	240	2	ENST00000404537.1:c.4191C>T	p.Ala1397=	p.A1397=	ENST00000404537	NM_015311.2	1397	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46520.1	4191	RADIA|SOMATICSNIPER|VARSCANS	.	ACGACGGCCCC	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385636	.	13/21	.	.	.	.	.	.	.	.	rs747358446	13/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,synonymous_variant,p.%3D,ENST00000603926,;OBSL1,synonymous_variant,p.%3D,ENST00000456147,;OBSL1,synonymous_variant,p.%3D,ENST00000373876,;OBSL1,synonymous_variant,p.%3D,ENST00000604031,;OBSL1,synonymous_variant,p.%3D,ENST00000265317,;OBSL1,synonymous_variant,p.%3D,ENST00000265318,;OBSL1,synonymous_variant,p.%3D,ENST00000404537,;RP11-256I23.2,upstream_gene_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000462534,;OBSL1,upstream_gene_variant,,ENST00000489804,;OBSL1,upstream_gene_variant,,ENST00000596474,;	4248	242	292	SUCCESS
AGFG1	3267	.	GRCh37	2	228389469	228389487	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGTTTGTAGTCCCCAGTTG	GGTTTGTAGTCCCCAGTTG	-	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	GGTTTGTAGTCCCCAGTTG	GGTTTGTAGTCCCCAGTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	108	0	ENST00000310078.8:c.541-9_550del		p.X181_splice	ENST00000310078	NM_004504.4	181		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46533.1	?-550	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATGTGGTTTGTAGTCCCCAGTTGTAGGT	NONE	.	.	.	.	.	ENSP00000387282	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000409979	Transcript	.	.	ENSG00000173744	5175	.	.	HIGH	4/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AGFG1	HGNC	.	.	UPI0001814801	deletion	AGFG1,splice_acceptor_variant,,ENST00000409171,;AGFG1,splice_acceptor_variant,,ENST00000456594,;AGFG1,splice_acceptor_variant,,ENST00000409315,;AGFG1,splice_acceptor_variant,,ENST00000409979,;AGFG1,splice_acceptor_variant,,ENST00000373671,;AGFG1,splice_acceptor_variant,,ENST00000310078,;AGFG1,splice_acceptor_variant,,ENST00000486932,;	?-820	108	103	SUCCESS
DIS3L2	129563	.	GRCh37	2	233199346	233199346	+	synonymous_variant	Silent	SNP	T	T	C	rs763103187	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	168	78	231	1	ENST00000325385.7:c.2295T>C	p.Ser765=	p.S765=	ENST00000325385	NM_152383.4	765	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS42834.1	2295	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGGCCC	NONE	byFrequency	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9	.	.	ENSP00000315569	.	19/21	.	.	.	.	.	.	.	.	rs763103187	19/21	common_in_exac	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,synonymous_variant,p.%3D,ENST00000325385,;DIS3L2,synonymous_variant,p.%3D,ENST00000434477,;DIS3L2,synonymous_variant,p.%3D,ENST00000409307,;DIS3L2,intron_variant,,ENST00000273009,;DIS3L2,upstream_gene_variant,,ENST00000417808,;DIS3L2,downstream_gene_variant,,ENST00000424049,;DIS3L2,upstream_gene_variant,,ENST00000418143,;DIS3L2,3_prime_UTR_variant,,ENST00000445090,;DIS3L2,3_prime_UTR_variant,,ENST00000390005,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000429283,;	2571	232	246	SUCCESS
ECEL1	9427	.	GRCh37	2	233348748	233348748	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	262	140	350	2	ENST00000304546.1:c.1370T>A	p.Phe457Tyr	p.F457Y	ENST00000304546	NM_004826.2	457	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS2493.1	1370	RADIA|SOMATICSNIPER|VARSCANS	.	GTACAAAGAGG	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF05649,Gene3D:3.40.390.10,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	.	.	ENSP00000302051	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000304546	Transcript	.	.	ENSG00000171551	3147	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	ECEL1_HUMAN	ECEL1	HGNC	.	.	UPI000013E997	SNV	ECEL1,missense_variant,p.Phe457Tyr,ENST00000409941,;ECEL1,missense_variant,p.Phe457Tyr,ENST00000304546,;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	1581	352	402	SUCCESS
LHCGR	3973	.	GRCh37	2	48925801	48925801	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	68	0	ENST00000294954.7:c.819G>A	p.Leu273=	p.L273=	ENST00000294954	NM_000233.3	273	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1842.1	819	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTCAACGT	NONE	.	.	hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1	.	.	ENSP00000294954	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,synonymous_variant,p.%3D,ENST00000403273,;LHCGR,synonymous_variant,p.%3D,ENST00000405626,;LHCGR,synonymous_variant,p.%3D,ENST00000401907,;LHCGR,synonymous_variant,p.%3D,ENST00000294954,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,intron_variant,,ENST00000344775,;LHCGR,3_prime_UTR_variant,,ENST00000602369,;	841	68	59	SUCCESS
MYH15	22989	.	GRCh37	3	108127246	108127246	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	84	0	ENST00000273353.3:c.4561A>C	p.Ile1521Leu	p.I1521L	ENST00000273353	NM_014981.1	1521	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS43127.1	4561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATCTCTT	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	33/42	.	.	.	.	.	.	.	.	.	33/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	tolerated(0.05)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Ile1521Leu,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	4618	84	99	SUCCESS
CAND2	23066	.	GRCh37	3	12859283	12859283	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1186910356	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	76	0	ENST00000456430.2:c.2852G>T	p.Gly951Val	p.G951V	ENST00000456430	NM_001162499.1	951	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54554.1	2852	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCACCC	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Gly951Val,ENST00000456430,;CAND2,missense_variant,p.Gly858Val,ENST00000295989,;CAND2,downstream_gene_variant,,ENST00000446928,;	2893	76	60	SUCCESS
TRH	7200	.	GRCh37	3	129695783	129695783	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	47	119	1	ENST00000302649.3:c.453G>T	p.Arg151=	p.R151=	ENST00000302649	NM_007117.4	151	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3066.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGCAGCA	NONE	.	.	hmmpanther:PTHR17530,hmmpanther:PTHR17530:SF2,Pfam_domain:PF05438,PIRSF_domain:PIRSF001795	.	.	ENSP00000303452	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302649	Transcript	.	.	ENSG00000170893	12298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRH_HUMAN	TRH	HGNC	.	.	UPI0000136F2B	SNV	TRH,synonymous_variant,p.%3D,ENST00000507066,;TRH,synonymous_variant,p.%3D,ENST00000302649,;	980	120	130	SUCCESS
SATB1	6304	.	GRCh37	3	18390856	18390856	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	30	162	2	ENST00000338745.6:c.2098C>G	p.Leu700Val	p.L700V	ENST00000338745	NM_002971.4	700	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS56242.1	2194	RADIA|SOMATICSNIPER|VARSCANS	.	CTTGAGATAGT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000399518	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000417717	Transcript	.	.	ENSG00000182568	10541	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(1)	.	SATB1_HUMAN	SATB1	HGNC	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN	.	UPI0000E1FB67	SNV	SATB1,missense_variant,p.Leu700Val,ENST00000454909,;SATB1,missense_variant,p.Leu732Val,ENST00000417717,;SATB1,missense_variant,p.Leu700Val,ENST00000338745,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000606296,;SATB1,downstream_gene_variant,,ENST00000476178,;SATB1,downstream_gene_variant,,ENST00000467628,;	3165	164	174	SUCCESS
CRBN	51185	.	GRCh37	3	3221334	3221334	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	51	136	1	ENST00000231948.4:c.38A>G	p.Asn13Ser	p.N13S	ENST00000231948	NM_016302.3	13	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS2562.1	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTTGTGC	NONE	.	.	hmmpanther:PTHR14255:SF2,hmmpanther:PTHR14255	.	.	ENSP00000231948	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000231948	Transcript	.	.	ENSG00000113851	30185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious_low_confidence(0.03)	.	CRBN_HUMAN	CRBN	HGNC	.	.	UPI000006E62A	SNV	CRBN,missense_variant,p.Asn13Ser,ENST00000432408,;CRBN,missense_variant,p.Asn9Ser,ENST00000450014,;CRBN,missense_variant,p.Asn13Ser,ENST00000231948,;CRBN,missense_variant,p.Asn9Ser,ENST00000424814,;CRBN,non_coding_transcript_exon_variant,,ENST00000498700,;CRBN,non_coding_transcript_exon_variant,,ENST00000491834,;CRBN,non_coding_transcript_exon_variant,,ENST00000478353,;CRBN,upstream_gene_variant,,ENST00000492178,;	61	137	144	SUCCESS
SACM1L	22908	.	GRCh37	3	45754687	45754687	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	19	0	ENST00000389061.5:c.542A>T	p.Glu181Val	p.E181V	ENST00000389061	NM_014016.3	181	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33745.1	542	RADIA|SOMATICSNIPER|VARSCANS	.	GCCAGAGGTAA	NONE	.	.	Pfam_domain:PF02383,hmmpanther:PTHR11200,PROSITE_profiles:PS50275	.	.	ENSP00000373713	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000389061	Transcript	.	.	ENSG00000211456	17059	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.703)	.	deleterious(0.01)	.	SAC1_HUMAN	SACM1L	HGNC	E9PGZ4_HUMAN,C9JV50_HUMAN	.	UPI000006EAA5	SNV	SACM1L,missense_variant,p.Glu181Val,ENST00000389061,;SACM1L,missense_variant,p.Glu120Val,ENST00000541314,;SACM1L,missense_variant,p.Glu78Val,ENST00000418611,;SACM1L,downstream_gene_variant,,ENST00000438671,;SACM1L,downstream_gene_variant,,ENST00000464524,;SACM1L,downstream_gene_variant,,ENST00000478586,;SACM1L,missense_variant,p.Glu78Val,ENST00000455997,;SACM1L,splice_region_variant,,ENST00000441228,;SACM1L,splice_region_variant,,ENST00000445499,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463237,;SACM1L,upstream_gene_variant,,ENST00000463659,;	746	19	16	SUCCESS
LRIG1	26018	.	GRCh37	3	66436448	66436448	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	93	270	2	ENST00000273261.3:c.1746C>G	p.His582Gln	p.H582Q	ENST00000273261	NM_015541.2	582	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS33783.1	1746	RADIA|VARSCANS	.	CCAAAGTGGTT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS50835	.	.	ENSP00000273261	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.291)	.	deleterious(0.03)	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,missense_variant,p.His606Gln,ENST00000383703,;LRIG1,missense_variant,p.His582Gln,ENST00000273261,;SLC25A26,intron_variant,,ENST00000536651,;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,intron_variant,,ENST00000464350,;	2271	272	264	SUCCESS
TACR3	6870	.	GRCh37	4	104511152	104511152	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	103	0	ENST00000304883.2:c.1086-1G>C		p.X362_splice	ENST00000304883	NM_001059.2	362		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3664.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCTGAGG	BUFFER|p.F363I|c.1087T>A|3	.	.	.	.	.	ENSP00000303325	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304883	Transcript	1	.	ENSG00000169836	11528	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NK3R_HUMAN	TACR3	HGNC	.	.	UPI0000050413	SNV	TACR3,splice_acceptor_variant,,ENST00000304883,;RP11-297P16.3,intron_variant,,ENST00000512401,;RP11-297P16.3,intron_variant,,ENST00000502936,;	.	103	72	SUCCESS
TRAM1L1	133022	.	GRCh37	4	118005773	118005789	+	frameshift_variant	Frame_Shift_Del	DEL	CAAGATAAACACAATGG	CAAGATAAACACAATGG	-	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	CAAGATAAACACAATGG	CAAGATAAACACAATGG	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	108	0	ENST00000310754.4:c.761_777del	p.Ala254GlyfsTer2	p.A254Gfs*2	ENST00000310754	NM_152402.2	254	gCCATTGTGTTTATCTTG/g	0	.	.	.	.	.	-	AIVFIL/X	protein_coding	YES	CCDS3707.1	761-777	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTACCCAAGATAAACACAATGGCCCAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,Pfam_domain:PF03798,PIRSF_domain:PIRSF005449,SMART_domains:SM00724	.	.	ENSP00000309402	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310754	Transcript	.	.	ENSG00000174599	28371	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TR1L1_HUMAN	TRAM1L1	HGNC	.	.	UPI000013F075	deletion	TRAM1L1,frameshift_variant,p.Ala254GlyfsTer2,ENST00000310754,;	948-964	108	62	SUCCESS
FHDC1	85462	.	GRCh37	4	153864380	153864380	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	41	0	ENST00000260008.3:c.171C>T	p.Ser57=	p.S57=	ENST00000260008	NM_033393.2	57	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34081.1	171	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213	.	.	ENSP00000427567	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000511601	Transcript	.	.	ENSG00000137460	29363	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FHDC1_HUMAN	FHDC1	HGNC	.	.	UPI00001D7673	SNV	FHDC1,synonymous_variant,p.%3D,ENST00000511601,;FHDC1,synonymous_variant,p.%3D,ENST00000260008,;	359	41	33	SUCCESS
KIAA1211	0	.	GRCh37	4	57164398	57164398	+	start_lost	Translation_Start_Site	SNP	G	G	A	rs1336240262	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	76	0	ENST00000504228.1:c.3G>A	p.Met1?	p.M1?	ENST00000504228		1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS43230.1	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATGGGAAC	NONE	.	.	.	.	.	ENSP00000423366	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0)	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,start_lost,p.Met1?,ENST00000504228,;KIAA1211,start_lost,p.Met1?,ENST00000264229,;KIAA1211,5_prime_UTR_variant,,ENST00000541073,;KIAA1211,non_coding_transcript_exon_variant,,ENST00000503618,;	108	76	56	SUCCESS
KIAA1211	0	.	GRCh37	4	57181429	57181429	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	22	0	ENST00000504228.1:c.1761G>A	p.Ser587=	p.S587=	ENST00000504228		587	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS43230.1	1761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCGTCCCT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	.	.	ENSP00000423366	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,synonymous_variant,p.%3D,ENST00000504228,;KIAA1211,synonymous_variant,p.%3D,ENST00000264229,;KIAA1211,synonymous_variant,p.%3D,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	1866	22	30	SUCCESS
LPHN3	0	.	GRCh37	4	62599267	62599267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	126	0	ENST00000514591.1:c.1190G>T	p.Arg397Ile	p.R397I	ENST00000514591		397	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS54768.1	1190	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAGATCAG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60	.	.	ENSP00000422533	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.035)	.	tolerated(0.21)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Arg465Ile,ENST00000506720,;LPHN3,missense_variant,p.Arg397Ile,ENST00000545650,;LPHN3,missense_variant,p.Arg465Ile,ENST00000507625,;LPHN3,missense_variant,p.Arg397Ile,ENST00000504896,;LPHN3,missense_variant,p.Arg397Ile,ENST00000508946,;LPHN3,missense_variant,p.Arg397Ile,ENST00000506700,;LPHN3,missense_variant,p.Arg397Ile,ENST00000514591,;LPHN3,missense_variant,p.Arg397Ile,ENST00000514996,;LPHN3,missense_variant,p.Arg465Ile,ENST00000506746,;LPHN3,missense_variant,p.Arg465Ile,ENST00000508693,;LPHN3,missense_variant,p.Arg397Ile,ENST00000514157,;LPHN3,missense_variant,p.Arg397Ile,ENST00000512091,;LPHN3,missense_variant,p.Arg465Ile,ENST00000509896,;LPHN3,missense_variant,p.Arg465Ile,ENST00000511324,;LPHN3,missense_variant,p.Arg465Ile,ENST00000507164,;	1519	126	99	SUCCESS
NPFFR2	10886	.	GRCh37	4	72897750	72897750	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	58	0	ENST00000308744.6:c.132G>T	p.Trp44Cys	p.W44C	ENST00000308744	NM_004885.2	44	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS3551.1	132	MUSE|VARSCANS	.	GCCTGGAGCGG	NONE	.	.	.	.	.	ENSP00000307822	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000308744	Transcript	.	.	ENSG00000056291	4525	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.09)	.	NPFF2_HUMAN	NPFFR2	HGNC	A0PJM9_HUMAN	.	UPI000012FFBD	SNV	NPFFR2,missense_variant,p.Trp44Cys,ENST00000308744,;NPFFR2,missense_variant,p.Trp44Cys,ENST00000344413,;	230	58	53	SUCCESS
HPSE	10855	.	GRCh37	4	84222134	84222134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	79	0	ENST00000311412.5:c.1451G>A	p.Gly484Glu	p.G484E	ENST00000311412	NM_001098540.2	484	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS3602.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCCCAAA	NONE	.	.	hmmpanther:PTHR14363:SF10,hmmpanther:PTHR14363	.	.	ENSP00000384262	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000405413	Transcript	.	.	ENSG00000173083	5164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	deleterious(0.02)	.	HPSE_HUMAN	HPSE	HGNC	.	.	UPI000013F168	SNV	HPSE,missense_variant,p.Gly426Glu,ENST00000513463,;HPSE,missense_variant,p.Gly484Glu,ENST00000405413,;HPSE,missense_variant,p.Gly410Glu,ENST00000512196,;HPSE,missense_variant,p.Gly484Glu,ENST00000311412,;HPSE,3_prime_UTR_variant,,ENST00000507150,;HPSE,3_prime_UTR_variant,,ENST00000508891,;HPSE,3_prime_UTR_variant,,ENST00000509906,;	1588	79	64	SUCCESS
ST8SIA4	7903	.	GRCh37	5	100191909	100191909	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	53	199	2	ENST00000231461.5:c.695G>T	p.Gly232Val	p.G232V	ENST00000231461	NM_005668.5	232	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4091.1	695	RADIA|SOMATICSNIPER|VARSCANS	.	CTCCTCCTTTG	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF31	.	.	ENSP00000231461	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000231461	Transcript	.	.	ENSG00000113532	10871	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.757)	.	.	.	SIA8D_HUMAN	ST8SIA4	HGNC	.	.	UPI0000135973	SNV	ST8SIA4,missense_variant,p.Gly232Val,ENST00000231461,;	1006	201	137	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140745937	140745937	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	37	159	0	ENST00000518069.1:c.2040C>A	p.Thr680=	p.T680=	ENST00000518069	NM_018918.2	680	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS54925.1	2040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCCCCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,synonymous_variant,p.%3D,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGB3,upstream_gene_variant,,ENST00000576222,;	2040	159	173	SUCCESS
C5orf42	0	.	GRCh37	5	37176032	37176032	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762263576	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	18	77	0	ENST00000425232.2:c.5957A>G	p.Asp1986Gly	p.D1986G	ENST00000425232	NM_023073.3	1986	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34146.2	5957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTATCTACT	NONE	byFrequency	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	.	.	ENSP00000389014	.	31/52	.	.	.	.	.	.	.	.	rs762263576	31/52	PASS	ENST00000425232	Transcript	1	.	ENSG00000197603	25801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.625)	.	deleterious(0.01)	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,missense_variant,p.Asp866Gly,ENST00000274258,;C5orf42,missense_variant,p.Asp1986Gly,ENST00000508244,;C5orf42,missense_variant,p.Asp1986Gly,ENST00000425232,;C5orf42,missense_variant,p.Asp1034Gly,ENST00000514429,;C5orf42,missense_variant,p.Asp990Gly,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000511781,;	6188	77	129	SUCCESS
BEND3	57673	.	GRCh37	6	107391665	107391665	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	66	128	1	ENST00000369042.1:c.730C>T	p.Pro244Ser	p.P244S	ENST00000369042		244	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34507.1	730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGGGGCG	NONE	.	.	PROSITE_profiles:PS51457	.	.	ENSP00000411268	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429433	Transcript	.	.	ENSG00000178409	23040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.13)	.	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	SNV	BEND3,missense_variant,p.Pro244Ser,ENST00000429433,;BEND3,missense_variant,p.Pro244Ser,ENST00000369042,;	1380	129	137	SUCCESS
GPRC6A	222545	.	GRCh37	6	117113958	117113958	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	100	0	ENST00000310357.3:c.2128A>G	p.Thr710Ala	p.T710A	ENST00000310357	NM_148963.2	710	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS5112.1	2128	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGTGAAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000309493	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.043)	.	tolerated(0.49)	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,missense_variant,p.Thr710Ala,ENST00000310357,;GPRC6A,missense_variant,p.Thr639Ala,ENST00000368549,;GPRC6A,missense_variant,p.Thr535Ala,ENST00000530250,;	2150	100	92	SUCCESS
THEMIS	387357	.	GRCh37	6	128135050	128135050	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	71	0	ENST00000368248.2:c.736C>A	p.Pro246Thr	p.P246T	ENST00000368248	NM_001010923.2	246	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS55056.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGGAGGA	BUFFER|p.I244I|c.732C>T|3,BUFFER|p.I244I|c.732C>T|3	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1,Pfam_domain:PF12736	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	COSM1073043	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.625)	.	tolerated(0.29)	1	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,missense_variant,p.Pro167Thr,ENST00000368250,;THEMIS,missense_variant,p.Pro246Thr,ENST00000368248,;THEMIS,missense_variant,p.Pro246Thr,ENST00000543064,;THEMIS,missense_variant,p.Pro14Thr,ENST00000434358,;THEMIS,missense_variant,p.Pro211Thr,ENST00000537166,;	885	71	55	SUCCESS
THEMIS	387357	.	GRCh37	6	128135051	128135051	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	70	0	ENST00000368248.2:c.735C>A	p.Leu245=	p.L245=	ENST00000368248	NM_001010923.2	245	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55056.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAGGAT	BUFFER|p.I244I|c.732C>T|3	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1,Pfam_domain:PF12736	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,synonymous_variant,p.%3D,ENST00000368250,;THEMIS,synonymous_variant,p.%3D,ENST00000368248,;THEMIS,synonymous_variant,p.%3D,ENST00000543064,;THEMIS,synonymous_variant,p.%3D,ENST00000434358,;THEMIS,synonymous_variant,p.%3D,ENST00000537166,;	884	70	55	SUCCESS
BCLAF1	9774	.	GRCh37	6	136600958	136600958	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766557604	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	28	0	ENST00000531224.1:c.47G>T	p.Arg16Ile	p.R16I	ENST00000531224	NM_001077441.1	16	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS5177.1	47	MUTECT|MUSE	.	GTGATCTAGAC	BUFFER|p.S19F|c.56C>T|3	.	.	hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000435210	.	3/13	.	.	.	.	.	.	.	.	rs766557604,COSM332094,COSM594514	3/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	unknown(0)	.	deleterious_low_confidence(0)	0,1,1	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Arg16Ile,ENST00000392348,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000529826,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000353331,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000531224,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000530767,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000527536,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000527759,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000534269,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000527613,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000530429,;BCLAF1,missense_variant,p.Arg16Ile,ENST00000532384,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000528229,;BCLAF1,upstream_gene_variant,,ENST00000533621,;	300	28	29	SUCCESS
OR2H2	7932	.	GRCh37	6	29556520	29556520	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	402	11	453	0	ENST00000383640.2:c.799G>C	p.Glu267Gln	p.E267Q	ENST00000383640	NM_007160.3	267	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS34365.1	799	MUTECT|MUSE	.	CCCAAGAGAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000373136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383640	Transcript	.	.	ENSG00000204657	8253	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.243)	.	deleterious(0.01)	.	OR2H2_HUMAN	OR2H2	HGNC	.	.	UPI00001404DC	SNV	OR2H2,missense_variant,p.Glu267Gln,ENST00000383640,;GABBR1,intron_variant,,ENST00000355973,;	838	453	413	SUCCESS
TRIM31	11074	.	GRCh37	6	30080616	30080616	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	50	1	ENST00000376734.3:c.-34T>G		p.*12*	ENST00000376734	NM_007028.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34374.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTAGGAAGCTG	NONE	.	.	.	.	.	ENSP00000365924	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000376734	Transcript	.	.	ENSG00000204616	16289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI31_HUMAN	TRIM31	HGNC	Q2L6J1_HUMAN	.	UPI00001B0109	SNV	TRIM31,5_prime_UTR_variant,,ENST00000376734,;TRIM31,5_prime_UTR_variant,,ENST00000540829,;TRIM31-AS1,intron_variant,,ENST00000440874,;TRIM31,upstream_gene_variant,,ENST00000485864,;TRIM31,upstream_gene_variant,,ENST00000480808,;TRIM31,upstream_gene_variant,,ENST00000493404,;TRIM31,upstream_gene_variant,,ENST00000468264,;	93	51	37	SUCCESS
KLHL32	114792	.	GRCh37	6	97533184	97533184	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	37	1	ENST00000369261.4:c.594C>A	p.Arg198=	p.R198=	ENST00000369261	NM_052904.3	198	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5038.1	594	MUTECT|SOMATICSNIPER|VARSCANS	.	GACCGCCTGAC	NONE	.	.	PIRSF_domain:PIRSF037037,SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,synonymous_variant,p.%3D,ENST00000447886,;KLHL32,synonymous_variant,p.%3D,ENST00000539200,;KLHL32,synonymous_variant,p.%3D,ENST00000536676,;KLHL32,synonymous_variant,p.%3D,ENST00000369261,;KLHL32,intron_variant,,ENST00000369254,;KLHL32,intron_variant,,ENST00000544166,;	957	38	35	SUCCESS
PTPRN2	5799	.	GRCh37	7	157959802	157959802	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139278439	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	59	0	ENST00000389418.4:c.731C>T	p.Ala244Val	p.A244V	ENST00000389418	NM_002847.3	244	gCg/gTg	0	A:0	T:0	.	T:0	.	A	A/V	protein_coding	YES	CCDS5947.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGCCATC	NONE	byCluster|by1000G	.	.	T:0.001	A:0.0001	ENSP00000374069	T:0	6/23	.	.	.	.	.	.	.	.	rs139278439,COSM369395	6/23	PASS	ENST00000389418	Transcript	.	T:0.0002	ENSG00000155093	9677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.175)	T:0	deleterious(0.03)	0,1	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,missense_variant,p.Ala206Val,ENST00000409483,;PTPRN2,missense_variant,p.Ala227Val,ENST00000389416,;PTPRN2,missense_variant,p.Ala267Val,ENST00000404321,;PTPRN2,missense_variant,p.Ala244Val,ENST00000389418,;PTPRN2,missense_variant,p.Ala244Val,ENST00000389413,;	741	59	69	SUCCESS
MRPL32	64983	.	GRCh37	7	42976921	42976921	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	60	153	0	ENST00000223324.2:c.313A>G	p.Asn105Asp	p.N105D	ENST00000223324	NM_031903.2	105	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS5468.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGAACAAC	NONE	.	.	hmmpanther:PTHR21026,hmmpanther:PTHR21026:SF2,Pfam_domain:PF01783,Superfamily_domains:SSF57829	.	.	ENSP00000223324	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000223324	Transcript	.	.	ENSG00000106591	14035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.17)	.	RM32_HUMAN	MRPL32	HGNC	A4D1V4_HUMAN	.	UPI00001342E5	SNV	MRPL32,missense_variant,p.Asn105Asp,ENST00000223324,;MRPL32,intron_variant,,ENST00000496564,;MRPL32,splice_region_variant,,ENST00000413995,;MRPL32,splice_region_variant,,ENST00000432845,;	500	153	226	SUCCESS
VSTM2A	222008	.	GRCh37	7	54621656	54621656	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	413	16	265	0	ENST00000407838.3:c.634+3793T>A		p.*212*	ENST00000407838	NM_182546.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5512.2	.	MUTECT|MUSE	.	CCCCCTTCCCA	NONE	.	.	.	.	.	ENSP00000384967	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000407838	Transcript	.	.	ENSG00000170419	28499	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VTM2A_HUMAN	VSTM2A	HGNC	.	.	UPI0000EE7EC1	SNV	VSTM2A,missense_variant,p.Leu244His,ENST00000404951,;VSTM2A,intron_variant,,ENST00000402613,;VSTM2A,intron_variant,,ENST00000407838,;VSTM2A,downstream_gene_variant,,ENST00000402026,;VSTM2A,downstream_gene_variant,,ENST00000302287,;GS1-18A18.1,upstream_gene_variant,,ENST00000456049,;VSTM2A,intron_variant,,ENST00000466888,;VSTM2A,intron_variant,,ENST00000498834,;VSTM2A,downstream_gene_variant,,ENST00000469952,;	.	265	430	SUCCESS
RP11-3N2.13	0	.	GRCh37	7	63538068	63538068	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	47	63	1	ENST00000456806.1:n.623A>T		p.*208*	ENST00000456806		214		0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS55113.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAACCTTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000447987	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000550760	Transcript	.	.	ENSG00000257482	22785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.33)	.	ZN727_HUMAN	ZNF727	HGNC	.	.	UPI0001A23134	SNV	ZNF727,missense_variant,p.Asn214Ile,ENST00000550760,;RP11-3N2.13,downstream_gene_variant,,ENST00000445978,;RP11-3N2.13,non_coding_transcript_exon_variant,,ENST00000456806,;RP11-3N2.13,upstream_gene_variant,,ENST00000430271,;	820	64	73	SUCCESS
ABCB4	5244	.	GRCh37	7	87051507	87051507	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	419	70	221	1	ENST00000265723.4:c.2246A>T	p.Gln749Leu	p.Q749L	ENST00000265723	NM_000443.3	749	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5606.1	2246	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGCTGC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265723	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000265723	Transcript	.	.	ENSG00000005471	45	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.143)	.	deleterious(0.04)	.	MDR3_HUMAN	ABCB4	HGNC	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN	.	UPI000013D66B	SNV	ABCB4,missense_variant,p.Gln749Leu,ENST00000453593,;ABCB4,missense_variant,p.Gln749Leu,ENST00000265723,;ABCB4,missense_variant,p.Gln749Leu,ENST00000358400,;ABCB4,missense_variant,p.Gln749Leu,ENST00000545634,;ABCB4,missense_variant,p.Gln749Leu,ENST00000359206,;ABCB4,downstream_gene_variant,,ENST00000469770,;	2358	222	489	SUCCESS
ABCB1	5243	.	GRCh37	7	87170675	87170675	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	15	0	ENST00000265724.3:c.2317C>A	p.Gln773Lys	p.Q773K	ENST00000265724	NM_000927.4	773	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5608.1	2317	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGAAGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265724	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.567)	.	deleterious(0.01)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Gln773Lys,ENST00000265724,;ABCB1,missense_variant,p.Gln709Lys,ENST00000543898,;ABCB1,upstream_gene_variant,,ENST00000496821,;ABCB1,downstream_gene_variant,,ENST00000482527,;	2735	15	22	SUCCESS
TOX	9760	.	GRCh37	8	59750851	59750851	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1563366418	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	22	0	ENST00000361421.1:c.713G>A	p.Arg238Gln	p.R238Q	ENST00000361421	NM_014729.2	238	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS34897.1	713	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGCTTC	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155	.	.	ENSP00000354842	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000361421	Transcript	.	.	ENSG00000198846	18988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	TOX_HUMAN	TOX	HGNC	B4DYA1_HUMAN	.	UPI0000070A73	SNV	TOX,missense_variant,p.Arg238Gln,ENST00000361421,;	934	22	35	SUCCESS
RALYL	138046	.	GRCh37	8	85799965	85799965	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	16	126	0	ENST00000521268.1:c.812C>T	p.Thr271Ile	p.T271I	ENST00000521268	NM_173848.5	271	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS55252.1	851	MUTECT|MUSE	.	GATGACAGATG	NONE	.	.	hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000430128	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000517638	Transcript	.	.	ENSG00000184672	27036	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.951)	.	tolerated(0.06)	.	.	RALYL	HGNC	G3V129_HUMAN,E5RIX9_HUMAN,E5RG71_HUMAN	.	UPI00002108E6	SNV	RALYL,missense_variant,p.Thr198Ile,ENST00000523850,;RALYL,missense_variant,p.Thr271Ile,ENST00000521268,;RALYL,missense_variant,p.Thr271Ile,ENST00000522455,;RALYL,missense_variant,p.Thr284Ile,ENST00000517638,;RALYL,missense_variant,p.Thr271Ile,ENST00000521695,;RALYL,missense_variant,p.Thr260Ile,ENST00000518566,;RALYL,intron_variant,,ENST00000521376,;RALYL,intron_variant,,ENST00000518065,;	975	126	252	SUCCESS
RALYL	138046	.	GRCh37	8	85799990	85799990	+	synonymous_variant	Silent	SNP	T	T	C	rs751319727	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	175	32	97	1	ENST00000521268.1:c.837T>C	p.Asp279=	p.D279=	ENST00000521268	NM_173848.5	279	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS55252.1	876	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGATGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	.	.	ENSP00000430128	.	8/9	.	.	.	.	.	.	.	.	rs751319727	8/9	PASS	ENST00000517638	Transcript	.	.	ENSG00000184672	27036	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RALYL	HGNC	G3V129_HUMAN,E5RIX9_HUMAN,E5RG71_HUMAN	.	UPI00002108E6	SNV	RALYL,synonymous_variant,p.%3D,ENST00000523850,;RALYL,synonymous_variant,p.%3D,ENST00000521268,;RALYL,synonymous_variant,p.%3D,ENST00000522455,;RALYL,synonymous_variant,p.%3D,ENST00000517638,;RALYL,synonymous_variant,p.%3D,ENST00000521695,;RALYL,synonymous_variant,p.%3D,ENST00000518566,;RALYL,intron_variant,,ENST00000521376,;RALYL,intron_variant,,ENST00000518065,;	1000	98	208	SUCCESS
GALNT12	79695	.	GRCh37	9	101608380	101608380	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	39	234	0	ENST00000375011.3:c.1580A>G	p.Glu527Gly	p.E527G	ENST00000375011	NM_024642.4	527	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS6737.1	1580	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAGAATC	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF18,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000364150	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000375011	Transcript	.	.	ENSG00000119514	19877	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.257)	.	tolerated(0.37)	.	GLT12_HUMAN	GALNT12	HGNC	.	.	UPI000004D295	SNV	GALNT12,missense_variant,p.Glu527Gly,ENST00000375011,;RP11-92C4.3,downstream_gene_variant,,ENST00000433997,;RP11-92C4.3,downstream_gene_variant,,ENST00000589257,;GALNT12,upstream_gene_variant,,ENST00000470473,;	1580	234	231	SUCCESS
TLR4	7099	.	GRCh37	9	120475751	120475751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	113	0	ENST00000355622.6:c.1345C>T	p.Leu449Phe	p.L449F	ENST00000355622	NM_138557.2	449	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS6818.1	1345	RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCTCATT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Pfam_domain:PF13855,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52047	.	.	ENSP00000363089	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,missense_variant,p.Leu449Phe,ENST00000355622,;TLR4,missense_variant,p.Leu409Phe,ENST00000394487,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	1446	113	79	SUCCESS
ZBTB43	23099	.	GRCh37	9	129595854	129595854	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	52	1	ENST00000373457.1:c.1066G>A	p.Gly356Arg	p.G356R	ENST00000373457		356	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6867.1	1066	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAGGGATT	NONE	.	.	hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF13	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.03)	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,missense_variant,p.Gly356Arg,ENST00000373457,;ZBTB43,missense_variant,p.Gly356Arg,ENST00000373464,;ZBTB43,missense_variant,p.Gly356Arg,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	1330	53	53	SUCCESS
PRRC2B	84726	.	GRCh37	9	134363453	134363453	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	98	0	ENST00000357304.4:c.6195C>T	p.Ala2065=	p.A2065=	ENST00000357304	NM_013318.3	2065	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS48044.1	6195	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCTCCCA	NONE	.	.	hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	.	.	ENSP00000349856	.	27/31	.	.	.	.	.	.	.	.	.	27/31	PASS	ENST00000357304	Transcript	.	.	ENSG00000130723	28121	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,synonymous_variant,p.%3D,ENST00000320547,;PRRC2B,synonymous_variant,p.%3D,ENST00000357304,;PRRC2B,synonymous_variant,p.%3D,ENST00000405995,;PRRC2B,synonymous_variant,p.%3D,ENST00000458550,;PRRC2B,synonymous_variant,p.%3D,ENST00000372249,;PRRC2B,downstream_gene_variant,,ENST00000451855,;SNORD62A,downstream_gene_variant,,ENST00000428514,;SNORD62B,upstream_gene_variant,,ENST00000426867,;PRRC2B,upstream_gene_variant,,ENST00000465931,;	6250	98	101	SUCCESS
FAM205A	259308	.	GRCh37	9	34724216	34724216	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	75	213	1	ENST00000378788.3:c.3021G>C	p.Met1007Ile	p.M1007I	ENST00000378788	NM_001141917.1	1007	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS55305.1	3021	RADIA|MUTECT|MUSE	.	CAAGGCATGTG	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.11)	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,missense_variant,p.Met1007Ile,ENST00000378788,;	3061	214	292	SUCCESS
TMEM2	0	.	GRCh37	9	74355033	74355033	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	77	0	ENST00000377044.4:c.1150T>C	p.Tyr384His	p.Y384H	ENST00000377044	NM_013390.2	384	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS6638.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATAAAATT	NONE	.	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17	.	.	ENSP00000366243	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000377044	Transcript	.	.	ENSG00000135048	11869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.54)	.	TMEM2_HUMAN	TMEM2	HGNC	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN	.	UPI0000071E8D	SNV	TMEM2,missense_variant,p.Tyr384His,ENST00000377066,;TMEM2,missense_variant,p.Tyr384His,ENST00000377044,;TMEM2,missense_variant,p.Tyr384His,ENST00000542935,;	1690	77	80	SUCCESS
ARHGEF6	9459	.	GRCh37	X	135863020	135863020	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	22	37	0	ENST00000250617.6:c.22G>A	p.Val8Met	p.V8M	ENST00000250617	NM_004840.2	8	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14660.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCACGATTT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000250617	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000250617	Transcript	.	.	ENSG00000129675	685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	ARHG6_HUMAN	ARHGEF6	HGNC	.	.	UPI0000001C8E	SNV	ARHGEF6,missense_variant,p.Val8Met,ENST00000250617,;	1228	37	32	SUCCESS
ZBED1	9189	.	GRCh37	X	2407852	2407852	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	75	0	ENST00000381218.3:c.909C>T	p.Phe303=	p.F303=	ENST00000381218		303	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS14118.1	909	MUTECT|MUSE	.	AGCTGGAAGGC	NONE	.	.	Superfamily_domains:SSF53098,hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF2	.	.	ENSP00000370621	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381223	Transcript	.	.	ENSG00000214717	447	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBED1_HUMAN	ZBED1	HGNC	C9JXP4_HUMAN	.	UPI0000073DE9	SNV	ZBED1,synonymous_variant,p.%3D,ENST00000381223,;ZBED1,synonymous_variant,p.%3D,ENST00000381222,;ZBED1,synonymous_variant,p.%3D,ENST00000381218,;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000334651,;DHRSX,intron_variant,,ENST00000412516,;ZBED1,downstream_gene_variant,,ENST00000461691,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,upstream_gene_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	1113	75	101	SUCCESS
OTUD5	55593	.	GRCh37	X	48814825	48814825	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	38	44	0	ENST00000156084.4:c.8T>C	p.Ile3Thr	p.I3T	ENST00000156084	NM_017602.3	3	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS14313.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTATAGTC	NONE	.	.	hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF4	.	.	ENSP00000156084	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000156084	Transcript	.	.	ENSG00000068308	25402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	OTUD5_HUMAN	OTUD5	HGNC	H7BZQ3_HUMAN	.	UPI000006ED2A	SNV	OTUD5,missense_variant,p.Ile3Thr,ENST00000376488,;OTUD5,missense_variant,p.Ile3Thr,ENST00000156084,;OTUD5,missense_variant,p.Ile3Thr,ENST00000396743,;OTUD5,intron_variant,,ENST00000428668,;OTUD5,upstream_gene_variant,,ENST00000455452,;KCND1,downstream_gene_variant,,ENST00000218176,;KCND1,downstream_gene_variant,,ENST00000376477,;RNU6-722P,downstream_gene_variant,,ENST00000411377,;OTUD5,upstream_gene_variant,,ENST00000484499,;	69	44	48	SUCCESS
DDX3Y	8653	.	GRCh37	Y	15016810	15016810	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	19	241	0	ENST00000336079.3:c.-38C>G		p.*13*	ENST00000336079	NM_001122665.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14782.1	.	MUTECT|MUSE	.	CACACCTACAG	NONE	.	.	.	.	.	ENSP00000336725	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000336079	Transcript	1	.	ENSG00000067048	2699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX3Y_HUMAN	DDX3Y	HGNC	C9J8G5_HUMAN	.	UPI00000741D9	SNV	DDX3Y,5_prime_UTR_variant,,ENST00000336079,;DDX3Y,5_prime_UTR_variant,,ENST00000454054,;DDX3Y,intron_variant,,ENST00000360160,;DDX3Y,upstream_gene_variant,,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000493363,;	69	241	280	SUCCESS
GPAM	57678	.	GRCh37	10	113935464	113935464	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs368640883	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	59	0	ENST00000348367.4:c.307G>T	p.Gly103Ter	p.G103*	ENST00000348367		103	Gga/Tga	0	T:0.0002	T:0.0008	.	T:0	.	A	G/*	protein_coding	YES	CCDS7570.1	307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCGCGGT	NONE	byCluster|by1000G	.	PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500064,hmmpanther:PTHR12563:SF2,hmmpanther:PTHR12563	T:0	T:0	ENSP00000265276	T:0	6/22	.	.	.	.	.	.	.	.	rs368640883	6/22	PASS	ENST00000348367	Transcript	.	T:0.0002	ENSG00000119927	24865	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	SNV	GPAM,stop_gained,p.Gly103Ter,ENST00000348367,;GPAM,stop_gained,p.Gly103Ter,ENST00000423155,;GPAM,stop_gained,p.Gly103Ter,ENST00000369425,;GPAM,downstream_gene_variant,,ENST00000498541,;GPAM,downstream_gene_variant,,ENST00000480130,;	505	59	75	SUCCESS
MKI67	4288	.	GRCh37	10	129904790	129904790	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764585282	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	176	45	183	0	ENST00000368654.3:c.5314A>T	p.Arg1772Trp	p.R1772W	ENST00000368654	NM_002417.4	1772	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7659.1	5314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTAAATG	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	rs764585282	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	SNV	MKI67,missense_variant,p.Arg1772Trp,ENST00000368654,;MKI67,missense_variant,p.Arg1412Trp,ENST00000368653,;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,;	5690	184	222	SUCCESS
EBF3	253738	.	GRCh37	10	131676057	131676057	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	82	0	ENST00000355311.5:c.611del	p.Asn204ThrfsTer44	p.N204Tfs*44	ENST00000355311		204	aAc/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS31314.1	611	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGGGTTGCCT	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000357637	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000368648	Transcript	.	.	ENSG00000108001	19087	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COE3_HUMAN	EBF3	HGNC	Q658Y5_HUMAN	.	UPI000002A6FB	deletion	EBF3,frameshift_variant,p.Asn204ThrfsTer44,ENST00000355311,;EBF3,frameshift_variant,p.Asn204ThrfsTer44,ENST00000368648,;	684	82	97	SUCCESS
DPYSL4	10570	.	GRCh37	10	134012417	134012417	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs763838182	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	74	211	1	ENST00000338492.4:c.753C>A	p.Tyr251Ter	p.Y251*	ENST00000338492	NM_006426.2	251	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS7665.1	753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTACGTCAC	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51556	.	.	ENSP00000339850	.	8/14	.	.	.	.	.	.	.	.	rs763838182,COSM683963	8/14	PASS	ENST00000338492	Transcript	.	.	ENSG00000151640	3016	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DPYL4_HUMAN	DPYSL4	HGNC	D3DRG7_HUMAN	.	UPI000013DC70	SNV	DPYSL4,stop_gained,p.Tyr151Ter,ENST00000368627,;DPYSL4,stop_gained,p.Tyr151Ter,ENST00000368629,;DPYSL4,stop_gained,p.Tyr251Ter,ENST00000338492,;DPYSL4,downstream_gene_variant,,ENST00000493882,;DPYSL4,upstream_gene_variant,,ENST00000471544,;	917	212	167	SUCCESS
NET1	10276	.	GRCh37	10	5488742	5488742	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	62	0	ENST00000355029.4:c.256-5051A>T		p.*86*	ENST00000355029	NM_001047160.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41483.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACATGATGAGA	NONE	.	.	.	.	.	ENSP00000347134	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355029	Transcript	.	.	ENSG00000173848	14592	.	.	MODIFIER	3/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHG8_HUMAN	NET1	HGNC	Q5SQI5_HUMAN,B4E1Y1_HUMAN	.	UPI00001A9465	SNV	NET1,missense_variant,p.Asp5Val,ENST00000449083,;NET1,missense_variant,p.Asp5Val,ENST00000380359,;NET1,intron_variant,,ENST00000542715,;NET1,intron_variant,,ENST00000355029,;NET1,non_coding_transcript_exon_variant,,ENST00000486354,;	.	62	68	SUCCESS
CADM1	23705	.	GRCh37	11	115085403	115085403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	312	122	497	0	ENST00000452722.3:c.919G>T	p.Asp307Tyr	p.D307Y	ENST00000452722	NM_014333.3	307	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS8373.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATCTGTTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000395359	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000452722	Transcript	.	.	ENSG00000182985	5951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.635)	.	tolerated(0.12)	.	CADM1_HUMAN	CADM1	HGNC	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN	.	UPI0000049C25	SNV	CADM1,missense_variant,p.Asp307Tyr,ENST00000452722,;CADM1,missense_variant,p.Asp307Tyr,ENST00000331581,;CADM1,missense_variant,p.Asp307Tyr,ENST00000536727,;CADM1,missense_variant,p.Asp306Tyr,ENST00000545380,;CADM1,missense_variant,p.Asp307Tyr,ENST00000542447,;CADM1,missense_variant,p.Asp307Tyr,ENST00000537058,;CADM1,downstream_gene_variant,,ENST00000542450,;CADM1,non_coding_transcript_exon_variant,,ENST00000441886,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;CADM1,downstream_gene_variant,,ENST00000540373,;	940	498	435	SUCCESS
CADM1	23705	.	GRCh37	11	115375044	115375044	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	24	0	ENST00000452722.3:c.69G>T	p.Gly23=	p.G23=	ENST00000452722	NM_014333.3	23	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS8373.1	69	RADIA|MUSE	.	CGGAGCCCGGG	BUFFER|p.R27_L28delRL|c.78_83delCCGGCT|7	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53	.	.	ENSP00000395359	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000452722	Transcript	.	.	ENSG00000182985	5951	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADM1_HUMAN	CADM1	HGNC	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN	.	UPI0000049C25	SNV	CADM1,synonymous_variant,p.%3D,ENST00000452722,;CADM1,synonymous_variant,p.%3D,ENST00000331581,;CADM1,synonymous_variant,p.%3D,ENST00000536727,;CADM1,synonymous_variant,p.%3D,ENST00000545380,;CADM1,synonymous_variant,p.%3D,ENST00000542447,;CADM1,synonymous_variant,p.%3D,ENST00000537058,;CADM1,intron_variant,,ENST00000543249,;CADM1,non_coding_transcript_exon_variant,,ENST00000536781,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,synonymous_variant,p.%3D,ENST00000540951,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;	90	24	18	SUCCESS
TNNI2	7136	.	GRCh37	11	1861085	1861085	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	26	96	0	ENST00000252898.7:c.15G>C	p.Glu5Asp	p.E5D	ENST00000252898		5	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS31333.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAGGTAAG	NONE	.	.	hmmpanther:PTHR13738:SF2,hmmpanther:PTHR13738,Gene3D:1.20.5.350	.	.	ENSP00000371331	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000381906	Transcript	.	.	ENSG00000130598	11946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.23)	.	TNNI2_HUMAN	TNNI2	HGNC	.	.	UPI0000001605	SNV	TNNI2,missense_variant,p.Glu5Asp,ENST00000381911,;TNNI2,missense_variant,p.Glu5Asp,ENST00000252898,;TNNI2,missense_variant,p.Glu5Asp,ENST00000381906,;SYT8,downstream_gene_variant,,ENST00000430303,;SYT8,downstream_gene_variant,,ENST00000417052,;SYT8,downstream_gene_variant,,ENST00000381968,;SYT8,downstream_gene_variant,,ENST00000535046,;TNNI2,upstream_gene_variant,,ENST00000381905,;SYT8,downstream_gene_variant,,ENST00000436964,;SYT8,downstream_gene_variant,,ENST00000341958,;SYT8,downstream_gene_variant,,ENST00000381978,;SYT8,downstream_gene_variant,,ENST00000483280,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000479276,;SYT8,downstream_gene_variant,,ENST00000424556,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000490707,;SYT8,downstream_gene_variant,,ENST00000482118,;SYT8,downstream_gene_variant,,ENST00000464897,;TNNI2,upstream_gene_variant,,ENST00000468473,;SYT8,downstream_gene_variant,,ENST00000479089,;	84	96	119	SUCCESS
OR4A47	403253	.	GRCh37	11	48510880	48510880	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	236	69	250	0	ENST00000446524.1:c.536T>A	p.Met179Lys	p.M179K	ENST00000446524	NM_001005512.2	179	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS31490.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATGTATC	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000412752	.	1/1	.	.	.	.	.	.	.	.	COSM1746288	1/1	PASS	ENST00000446524	Transcript	.	.	ENSG00000237388	31266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.876)	.	deleterious_low_confidence(0)	1	O4A47_HUMAN	OR4A47	HGNC	.	.	UPI00001971E5	SNV	OR4A47,missense_variant,p.Met179Lys,ENST00000446524,;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	612	250	306	SUCCESS
SPTBN2	6712	.	GRCh37	11	66455336	66455336	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	54	163	1	ENST00000309996.2:c.6501+3G>T		p.X2167_splice	ENST00000309996	NM_006946.2	2167		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8150.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCACCGG	NONE	.	.	.	.	.	ENSP00000432568	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	LOW	34/37	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,splice_region_variant,,ENST00000533211,;SPTBN2,splice_region_variant,,ENST00000309996,;SPTBN2,splice_region_variant,,ENST00000529997,;SPTBN2,splice_region_variant,,ENST00000532650,;SPTBN2,upstream_gene_variant,,ENST00000530775,;SPTBN2,downstream_gene_variant,,ENST00000532902,;SPTBN2,upstream_gene_variant,,ENST00000528051,;	.	165	236	SUCCESS
PC	5091	.	GRCh37	11	66616778	66616778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	84	143	0	ENST00000393955.2:c.3211G>T	p.Ala1071Ser	p.A1071S	ENST00000393955	NM_022172.2	1071	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS8152.1	3211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCCCGGT	NONE	.	.	PIRSF_domain:PIRSF001594,TIGRFAM_domain:TIGR01235,Gene3D:2qf7A03,hmmpanther:PTHR18866	.	.	ENSP00000377532	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000393960	Transcript	.	.	ENSG00000173599	8636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	PYC_HUMAN	PC	HGNC	E9PS68_HUMAN	.	UPI0000132BC4	SNV	PC,missense_variant,p.Ala1071Ser,ENST00000393960,;PC,missense_variant,p.Ala1071Ser,ENST00000393958,;PC,missense_variant,p.Ala191Ser,ENST00000529047,;PC,missense_variant,p.Ala1071Ser,ENST00000393955,;RCE1,downstream_gene_variant,,ENST00000525356,;RCE1,downstream_gene_variant,,ENST00000309657,;RCE1,downstream_gene_variant,,ENST00000524506,;PC,non_coding_transcript_exon_variant,,ENST00000528224,;PC,downstream_gene_variant,,ENST00000530259,;RCE1,downstream_gene_variant,,ENST00000534645,;PC,upstream_gene_variant,,ENST00000529352,;RCE1,downstream_gene_variant,,ENST00000533277,;RCE1,downstream_gene_variant,,ENST00000532775,;RCE1,downstream_gene_variant,,ENST00000524849,;	3493	143	122	SUCCESS
TENM4	26011	.	GRCh37	11	78380651	78380651	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758333727	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	82	288	1	ENST00000278550.7:c.6739C>T	p.Arg2247Trp	p.R2247W	ENST00000278550	NM_001098816.2	2247	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44688.1	6739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGAGTGA	NONE	byFrequency	.	hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	32/34	.	.	.	.	.	.	.	.	rs758333727	32/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Arg2247Trp,ENST00000278550,;TENM4,missense_variant,p.Arg711Trp,ENST00000530738,;	7202	289	243	SUCCESS
STK33	65975	.	GRCh37	11	8474374	8474374	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781289189	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	48	0	ENST00000315204.1:c.866A>G	p.Tyr289Cys	p.Y289C	ENST00000315204	NM_030906.2	289	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7789.1	866	MUTECT|MUSE	.	CCATATAGATA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF133,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000416750	.	7/12	.	.	.	.	.	.	.	.	rs781289189	7/12	PASS	ENST00000447869	Transcript	.	.	ENSG00000130413	14568	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	STK33_HUMAN	STK33	HGNC	F8WAK5_HUMAN,E9PNP9_HUMAN,C9JCS6_HUMAN,C9J8B1_HUMAN,C9J6X7_HUMAN,C9J5G1_HUMAN,C9J319_HUMAN,B4DDH2_HUMAN	.	UPI000004496E	SNV	STK33,missense_variant,p.Tyr201Cys,ENST00000524760,;STK33,missense_variant,p.Tyr289Cys,ENST00000315204,;STK33,missense_variant,p.Tyr289Cys,ENST00000396672,;STK33,missense_variant,p.Tyr248Cys,ENST00000534493,;STK33,missense_variant,p.Tyr102Cys,ENST00000358872,;STK33,missense_variant,p.Tyr44Cys,ENST00000444064,;STK33,missense_variant,p.Tyr289Cys,ENST00000396673,;STK33,missense_variant,p.Tyr289Cys,ENST00000447869,;STK33,downstream_gene_variant,,ENST00000422559,;STK33,downstream_gene_variant,,ENST00000418597,;STK33,non_coding_transcript_exon_variant,,ENST00000473980,;STK33,non_coding_transcript_exon_variant,,ENST00000526517,;STK33,non_coding_transcript_exon_variant,,ENST00000486305,;	1785	48	79	SUCCESS
GRM5	2915	.	GRCh37	11	88330465	88330465	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	44	131	0	ENST00000305447.4:c.1450G>A	p.Val484Ile	p.V484I	ENST00000305447	NM_001143831.2	484	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS44694.1	1450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACGTTGA	NONE	.	.	hmmpanther:PTHR24060:SF30,hmmpanther:PTHR24060,Superfamily_domains:SSF53822	.	.	ENSP00000402912	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.32)	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,missense_variant,p.Val484Ile,ENST00000305447,;GRM5,missense_variant,p.Val484Ile,ENST00000393297,;GRM5,missense_variant,p.Val484Ile,ENST00000305432,;GRM5,missense_variant,p.Val484Ile,ENST00000418177,;GRM5,missense_variant,p.Val484Ile,ENST00000455756,;	1818	131	135	SUCCESS
CNTN5	53942	.	GRCh37	11	99426917	99426917	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	72	0	ENST00000524871.1:c.-29T>G		p.*10*	ENST00000524871	NM_014361.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53696.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATTGAGAC	NONE	.	.	.	.	.	ENSP00000435637	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,5_prime_UTR_variant,,ENST00000524871,;CNTN5,5_prime_UTR_variant,,ENST00000528682,;CNTN5,5_prime_UTR_variant,,ENST00000527185,;CNTN5,5_prime_UTR_variant,,ENST00000530458,;CNTN5,5_prime_UTR_variant,,ENST00000418526,;CNTN5,upstream_gene_variant,,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	262	72	87	SUCCESS
RFC5	5985	.	GRCh37	12	118456923	118456923	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs751804934	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	46	0	ENST00000454402.2:c.112C>G	p.Gln38Glu	p.Q38E	ENST00000454402	NM_007370.5	38	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS9185.1	112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCAGGAC	NONE	byFrequency	.	hmmpanther:PTHR11669:SF9,hmmpanther:PTHR11669,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000408295	.	2/11	.	.	.	.	.	.	.	.	rs751804934	2/11	PASS	ENST00000454402	Transcript	.	.	ENSG00000111445	9973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.7)	.	RFC5_HUMAN	RFC5	HGNC	F8W9B4_HUMAN,F5H5S0_HUMAN,E9PEP3_HUMAN	.	UPI00000622E5	SNV	RFC5,missense_variant,p.Gln17Glu,ENST00000535092,;RFC5,missense_variant,p.Gln70Glu,ENST00000484086,;RFC5,missense_variant,p.Gln17Glu,ENST00000420967,;RFC5,missense_variant,p.Gln17Glu,ENST00000392542,;RFC5,missense_variant,p.Gln38Glu,ENST00000454402,;RFC5,5_prime_UTR_variant,,ENST00000229043,;RFC5,5_prime_UTR_variant,,ENST00000537315,;RFC5,5_prime_UTR_variant,,ENST00000449641,;	230	46	76	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85441061	85441061	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	101	0	ENST00000393217.2:c.491A>G	p.Glu164Gly	p.E164G	ENST00000393217	NM_001079910.1	164	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS41816.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGAAGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000376910	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Glu62Gly,ENST00000533414,;LRRIQ1,missense_variant,p.Glu164Gly,ENST00000393217,;LRRIQ1,missense_variant,p.Glu164Gly,ENST00000393212,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000529408,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	552	101	100	SUCCESS
ATP12A	479	.	GRCh37	13	25265114	25265114	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	50	229	0	ENST00000381946.3:c.800-6C>T		p.X267_splice	ENST00000381946		267		0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS53858.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCTGTAG	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,Superfamily_domains:0049471	.	.	ENSP00000218548	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.67)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Pro271Leu,ENST00000218548,;ATP12A,splice_region_variant,,ENST00000381946,;	1145	229	184	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049768	36049768	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	40	209	0	ENST00000379919.4:c.508A>T	p.Ile170Phe	p.I170F	ENST00000379919	NM_005584.4	170	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS9353.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGATCTGCA	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Ile170Phe,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1065	209	162	SUCCESS
AKAP11	11215	.	GRCh37	13	42872928	42872928	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1300581503	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	82	0	ENST00000025301.2:c.611A>G	p.Asn204Ser	p.N204S	ENST00000025301	NM_016248.3	204	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS9383.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAATGATG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.61)	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,missense_variant,p.Asn204Ser,ENST00000025301,;	786	82	54	SUCCESS
KLC1	3831	.	GRCh37	14	104153537	104153537	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	103	0	ENST00000348520.6:c.1650+7655A>G		p.*550*	ENST00000348520	NM_182923.3	590		0	.	.	.	.	.	G	P	protein_coding	YES	CCDS45168.1	1770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCAAAGAA	NONE	.	.	.	.	.	ENSP00000414982	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000452929	Transcript	.	.	ENSG00000126214	6387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC1_HUMAN	KLC1	HGNC	Q7Z5D5_HUMAN,G3V2P7_HUMAN	.	UPI0000E23AFA	SNV	KLC1,synonymous_variant,p.%3D,ENST00000246489,;KLC1,synonymous_variant,p.%3D,ENST00000537046,;KLC1,synonymous_variant,p.%3D,ENST00000452929,;KLC1,synonymous_variant,p.%3D,ENST00000554280,;KLC1,synonymous_variant,p.%3D,ENST00000555836,;KLC1,synonymous_variant,p.%3D,ENST00000347839,;KLC1,synonymous_variant,p.%3D,ENST00000334553,;KLC1,intron_variant,,ENST00000348520,;KLC1,intron_variant,,ENST00000557450,;KLC1,intron_variant,,ENST00000535194,;KLC1,downstream_gene_variant,,ENST00000555856,;KLC1,downstream_gene_variant,,ENST00000553325,;KLC1,downstream_gene_variant,,ENST00000380038,;KLC1,downstream_gene_variant,,ENST00000557575,;RP11-73M18.2,downstream_gene_variant,,ENST00000472726,;KLC1,downstream_gene_variant,,ENST00000445352,;KLC1,downstream_gene_variant,,ENST00000553286,;KLC1,downstream_gene_variant,,ENST00000389744,;RP11-73M18.6,upstream_gene_variant,,ENST00000602827,;RP11-894P9.1,upstream_gene_variant,,ENST00000498989,;KLC1,3_prime_UTR_variant,,ENST00000554228,;KLC1,non_coding_transcript_exon_variant,,ENST00000557143,;KLC1,non_coding_transcript_exon_variant,,ENST00000538504,;KLC1,downstream_gene_variant,,ENST00000553680,;	2025	103	69	SUCCESS
IGHA1	3493	.	GRCh37	14	106173860	106173860	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747147251	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	38	0	ENST00000390547.2:c.707C>T	p.Pro236Leu	p.P236L	ENST00000390547		236	cCg/cTg	0	.	.	.	.	.	A	P/L	IG_C_gene	YES	.	707	RADIA|MUSE	.	CCGACGGCGGC	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374989	.	3/3	.	.	.	.	.	.	.	.	rs747147251	3/3	PASS	ENST00000390547	Transcript	.	.	ENSG00000211895	5478	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	IGHA1_HUMAN	IGHA1	HGNC	Q9UP60_HUMAN,Q96K68_HUMAN,Q8NCL6_HUMAN,Q6MZW0_HUMAN	.	UPI000004718D	SNV	IGHA1,missense_variant,p.Pro236Leu,ENST00000390547,;AL928768.3,upstream_gene_variant,,ENST00000497872,;AL901608.1,downstream_gene_variant,,ENST00000581070,;	707	38	12	SUCCESS
IGHM	3507	.	GRCh37	14	106322168	106322168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	30	194	0	ENST00000390559.2:c.156C>A	p.Ser52Arg	p.S52R	ENST00000390559		52	agC/agA	0	.	.	.	.	.	T	S/R	IG_C_gene	YES	.	156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTGCTGCT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,PROSITE_profiles:PS50835	.	.	ENSP00000375001	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000390559	Transcript	1	.	ENSG00000211899	5541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.18)	.	.	IGHM	HGNC	Q86TT1_HUMAN	.	UPI000173A6A1	SNV	IGHM,missense_variant,p.Ser52Arg,ENST00000390559,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.2,downstream_gene_variant,,ENST00000581918,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.5,downstream_gene_variant,,ENST00000582202,;AL122127.3,downstream_gene_variant,,ENST00000580379,;AL122127.1,downstream_gene_variant,,ENST00000581354,;AL122127.4,downstream_gene_variant,,ENST00000581720,;	156	194	122	SUCCESS
EXOC5	10640	.	GRCh37	14	57713485	57713485	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	32	105	0	ENST00000413566.2:c.214C>T	p.Gln72Ter	p.Q72*	ENST00000413566	NM_006544.3	72	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS45111.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGACATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12100	.	.	ENSP00000389934	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000413566	Transcript	.	.	ENSG00000070367	10696	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOC5_HUMAN	EXOC5	HGNC	Q658M3_HUMAN,G3V4Z7_HUMAN	.	UPI0000047E53	SNV	EXOC5,stop_gained,p.Gln72Ter,ENST00000413566,;EXOC5,stop_gained,p.Gln17Ter,ENST00000556318,;EXOC5,stop_gained,p.Gln72Ter,ENST00000340918,;EXOC5,non_coding_transcript_exon_variant,,ENST00000556911,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000555749,;EXOC5,non_coding_transcript_exon_variant,,ENST00000554598,;	574	105	107	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72190403	72190403	+	synonymous_variant	Silent	SNP	C	C	T	rs760762758	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	137	0	ENST00000555818.1:c.4311C>T	p.Phe1437=	p.F1437=	ENST00000555818	NM_015556.1	1437	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS9807.1	4311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCACCAG	NONE	.	.	hmmpanther:PTHR15711:SF10,hmmpanther:PTHR15711	.	.	ENSP00000450832	.	16/22	.	.	.	.	.	.	.	.	rs760762758	16/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,synonymous_variant,p.%3D,ENST00000537413,;SIPA1L1,synonymous_variant,p.%3D,ENST00000358550,;SIPA1L1,synonymous_variant,p.%3D,ENST00000381232,;SIPA1L1,synonymous_variant,p.%3D,ENST00000555818,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;	4659	137	87	SUCCESS
SERPINA9	327657	.	GRCh37	14	94936087	94936087	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	109	0	ENST00000380365.3:c.91C>A	p.Pro31Thr	p.P31T	ENST00000380365		31	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS41982.1	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGGGTATG	NONE	.	.	hmmpanther:PTHR11461:SF40,hmmpanther:PTHR11461,Superfamily_domains:SSF56574	.	.	ENSP00000337133	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000337425	Transcript	.	.	ENSG00000170054	15995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.38)	.	SPA9_HUMAN	SERPINA9	HGNC	.	.	UPI000024706E	SNV	SERPINA9,missense_variant,p.Pro31Thr,ENST00000380365,;SERPINA9,missense_variant,p.Pro49Thr,ENST00000298845,;SERPINA9,missense_variant,p.Pro49Thr,ENST00000337425,;SERPINA9,intron_variant,,ENST00000546329,;SERPINA9,intron_variant,,ENST00000448305,;SERPINA9,intron_variant,,ENST00000424550,;SERPINA9,downstream_gene_variant,,ENST00000539349,;SERPINA9,missense_variant,p.Pro76His,ENST00000538527,;	220	109	100	SUCCESS
B2M	567	.	GRCh37	15	45007635	45007635	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	54	62	0	ENST00000558401.1:c.82C>T	p.Gln28Ter	p.Q28*	ENST00000558401	NM_004048.2	28	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10113.1	82	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCAGGTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000452780	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000558401	Transcript	1	.	ENSG00000166710	914	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B2MG_HUMAN	B2M	HGNC	Q9UM88_HUMAN,H0YLF3_HUMAN,A6XND9_HUMAN	.	UPI000000D892	SNV	B2M,stop_gained,p.Gln28Ter,ENST00000558401,;B2M,stop_gained,p.Gln28Ter,ENST00000544417,;B2M,stop_gained,p.Gln28Ter,ENST00000559916,;B2M,non_coding_transcript_exon_variant,,ENST00000559907,;B2M,intron_variant,,ENST00000559220,;B2M,upstream_gene_variant,,ENST00000560556,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,stop_gained,p.Gln28Ter,ENST00000561424,;B2M,stop_gained,p.Gln28Ter,ENST00000559720,;B2M,missense_variant,p.Ser24Leu,ENST00000557901,;B2M,non_coding_transcript_exon_variant,,ENST00000560681,;B2M,intron_variant,,ENST00000349264,;B2M,upstream_gene_variant,,ENST00000561139,;	152	62	100	SUCCESS
RAB27A	5873	.	GRCh37	15	55527010	55527010	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	16	82	0	ENST00000336787.1:c.123A>T	p.Thr41=	p.T41=	ENST00000336787	NM_183235.2	41	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10153.1	123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACTGTTGT	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF388,PROSITE_profiles:PS51419	.	.	ENSP00000379601	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000396307	Transcript	1	.	ENSG00000069974	9766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB27A_HUMAN	RAB27A	HGNC	H3BVH7_HUMAN,H3BUD9_HUMAN,H3BU81_HUMAN,H3BS49_HUMAN,H3BN55_HUMAN,A2RU94_HUMAN	.	UPI0000001267	SNV	RAB27A,synonymous_variant,p.%3D,ENST00000569493,;RAB27A,synonymous_variant,p.%3D,ENST00000566877,;RAB27A,synonymous_variant,p.%3D,ENST00000567380,;RAB27A,synonymous_variant,p.%3D,ENST00000336787,;RAB27A,synonymous_variant,p.%3D,ENST00000568803,;RAB27A,synonymous_variant,p.%3D,ENST00000396307,;RAB27A,synonymous_variant,p.%3D,ENST00000564609,;RAB27A,synonymous_variant,p.%3D,ENST00000563262,;RAB27A,synonymous_variant,p.%3D,ENST00000565972,;RAB27A,downstream_gene_variant,,ENST00000567639,;	375	82	98	SUCCESS
IGDCC3	9543	.	GRCh37	15	65623843	65623843	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148656626	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	28	147	0	ENST00000327987.4:c.1303G>A	p.Val435Met	p.V435M	ENST00000327987	NM_004884.3	435	Gtg/Atg	0	T:0.0025	T:0.0008	.	T:0	.	T	V/M	protein_coding	YES	CCDS10205.1	1303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACAGAGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF106,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	T:0	ENSP00000332773	T:0	8/14	.	.	.	.	.	.	.	.	rs148656626	8/14	PASS	ENST00000327987	Transcript	.	T:0.0002	ENSG00000174498	9700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	T:0	tolerated(0.18)	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,missense_variant,p.Val298Met,ENST00000558354,;IGDCC3,missense_variant,p.Val435Met,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,non_coding_transcript_exon_variant,,ENST00000559231,;	1555	147	123	SUCCESS
MAP2K1	5604	.	GRCh37	15	66679670	66679670	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	87	0	ENST00000307102.5:c.-16G>T		p.*6*	ENST00000307102	NM_002755.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10216.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGTTACC	NONE	.	.	.	.	.	ENSP00000302486	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000307102	Transcript	1	.	ENSG00000169032	6840	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP2K1_HUMAN	MAP2K1	HGNC	A4QPA9_HUMAN	.	UPI000013EBC9	SNV	MAP2K1,5_prime_UTR_variant,,ENST00000307102,;TIPIN,upstream_gene_variant,,ENST00000568216,;TIPIN,upstream_gene_variant,,ENST00000562124,;TIPIN,upstream_gene_variant,,ENST00000570251,;TIPIN,upstream_gene_variant,,ENST00000561773,;MAP2K1,non_coding_transcript_exon_variant,,ENST00000425818,;	516	87	82	SUCCESS
AXIN1	8312	.	GRCh37	16	396951	396951	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	76	0	ENST00000262320.3:c.75G>T	p.Val25=	p.V25=	ENST00000262320	NM_003502.3	25	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10405.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCACTGG	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,synonymous_variant,p.%3D,ENST00000262320,;AXIN1,synonymous_variant,p.%3D,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;	447	76	80	SUCCESS
THAP11	57215	.	GRCh37	16	67877084	67877084	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	39	0	ENST00000303596.1:c.627G>T	p.Ser209=	p.S209=	ENST00000303596	NM_020457.2	209	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10847.1	627	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GCGTCGGAGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22794	.	.	ENSP00000304689	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303596	Transcript	.	.	ENSG00000168286	23194	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THA11_HUMAN	THAP11	HGNC	B5APZ3_HUMAN	.	UPI000013E8BD	SNV	THAP11,synonymous_variant,p.%3D,ENST00000303596,;CENPT,intron_variant,,ENST00000561593,;CENPT,intron_variant,,ENST00000562787,;CENPT,intron_variant,,ENST00000565114,;NUTF2,upstream_gene_variant,,ENST00000219169,;NUTF2,upstream_gene_variant,,ENST00000568396,;NUTF2,upstream_gene_variant,,ENST00000569436,;NUTF2,upstream_gene_variant,,ENST00000567105,;CENPT,upstream_gene_variant,,ENST00000567985,;CENPT,non_coding_transcript_exon_variant,,ENST00000564144,;CENPT,non_coding_transcript_exon_variant,,ENST00000567482,;CENPT,non_coding_transcript_exon_variant,,ENST00000569019,;CENPT,intron_variant,,ENST00000568652,;CENPT,intron_variant,,ENST00000565132,;CENPT,intron_variant,,ENST00000568765,;CENPT,intron_variant,,ENST00000569094,;CENPT,upstream_gene_variant,,ENST00000564346,;CENPT,upstream_gene_variant,,ENST00000565385,;CENPT,upstream_gene_variant,,ENST00000565436,;NUTF2,upstream_gene_variant,,ENST00000568390,;NUTF2,upstream_gene_variant,,ENST00000570026,;NUTF2,upstream_gene_variant,,ENST00000568233,;	872	39	18	SUCCESS
SLC12A4	6560	.	GRCh37	16	67997347	67997347	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	60	0	ENST00000316341.3:c.210+21G>T		p.*70*	ENST00000316341	NM_001145961.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCCAAAA	NONE	.	.	.	.	.	ENSP00000395983	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	MODIFIER	1/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,intron_variant,,ENST00000537830,;SLC12A4,intron_variant,,ENST00000541864,;SLC12A4,intron_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000338335,;SLC12A4,intron_variant,,ENST00000572037,;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,intron_variant,,ENST00000316341,;SLC12A4,intron_variant,,ENST00000422611,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,intron_variant,,ENST00000576462,;SLC12A4,intron_variant,,ENST00000576377,;SLC12A4,intron_variant,,ENST00000570802,;	.	60	71	SUCCESS
BCAR1	9564	.	GRCh37	16	75263466	75263466	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777459699	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	40	0	ENST00000162330.5:c.2556G>T	p.Glu852Asp	p.E852D	ENST00000162330	NM_001170717.1	852	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS54040.1	2694	RADIA|MUTECT	.	CCCAGCTCCTT	NONE	.	.	hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF5,Gene3D:1.20.1490.10,Pfam_domain:PF12026	.	.	ENSP00000391669	.	8/8	.	.	.	.	.	.	.	.	rs777459699	8/8	PASS	ENST00000418647	Transcript	.	.	ENSG00000050820	971	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	tolerated(0.72)	.	BCAR1_HUMAN	BCAR1	HGNC	Q8NC57_HUMAN,H3BVF0_HUMAN,H3BU42_HUMAN,H3BTL5_HUMAN,H3BTB0_HUMAN,H3BSY4_HUMAN,H3BSB2_HUMAN,H3BQJ7_HUMAN,F5H855_HUMAN	.	UPI0001AE689B	SNV	BCAR1,missense_variant,p.Glu850Asp,ENST00000542031,;BCAR1,missense_variant,p.Glu852Asp,ENST00000538440,;BCAR1,missense_variant,p.Glu704Asp,ENST00000535626,;BCAR1,missense_variant,p.Glu870Asp,ENST00000420641,;BCAR1,missense_variant,p.Glu852Asp,ENST00000162330,;BCAR1,missense_variant,p.Glu870Asp,ENST00000393420,;BCAR1,missense_variant,p.Glu898Asp,ENST00000418647,;BCAR1,missense_variant,p.Glu870Asp,ENST00000393422,;BCAR1,missense_variant,p.Glu823Asp,ENST00000546196,;CTRB1,downstream_gene_variant,,ENST00000361017,;BCAR1,non_coding_transcript_exon_variant,,ENST00000566982,;RP11-331F4.4,downstream_gene_variant,,ENST00000489723,;BCAR1,3_prime_UTR_variant,,ENST00000562556,;BCAR1,non_coding_transcript_exon_variant,,ENST00000563038,;RP11-331F4.4,downstream_gene_variant,,ENST00000498687,;RP11-331F4.4,downstream_gene_variant,,ENST00000467381,;RP11-331F4.4,downstream_gene_variant,,ENST00000463353,;	2978	40	9	SUCCESS
KLHDC4	54758	.	GRCh37	16	87788861	87788861	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	61	216	0	ENST00000270583.5:c.308G>A	p.Arg103Lys	p.R103K	ENST00000270583	NM_017566.3	103	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS10963.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCTGGTA	NONE	.	.	hmmpanther:PTHR23244:SF283,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13415,Superfamily_domains:0052715	.	.	ENSP00000270583	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000270583	Transcript	.	.	ENSG00000104731	25272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.83)	.	KLDC4_HUMAN	KLHDC4	HGNC	.	.	UPI00000705D4	SNV	KLHDC4,missense_variant,p.Arg46Lys,ENST00000353170,;KLHDC4,missense_variant,p.Arg150Lys,ENST00000561825,;KLHDC4,missense_variant,p.Arg103Lys,ENST00000270583,;KLHDC4,missense_variant,p.Arg103Lys,ENST00000347925,;KLHDC4,intron_variant,,ENST00000562261,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000565328,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000564484,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000568502,;KLHDC4,upstream_gene_variant,,ENST00000316853,;KLHDC4,splice_acceptor_variant,,ENST00000569747,;KLHDC4,missense_variant,p.Arg103Lys,ENST00000567298,;KLHDC4,missense_variant,p.Glu77Lys,ENST00000562155,;KLHDC4,3_prime_UTR_variant,,ENST00000568338,;KLHDC4,3_prime_UTR_variant,,ENST00000564396,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000566661,;	367	216	215	SUCCESS
SSH2	85464	.	GRCh37	17	28022497	28022497	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs764605339	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	64	127	0	ENST00000269033.3:c.256C>G	p.Pro86Ala	p.P86A	ENST00000269033	NM_033389.2	86	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS11253.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGGCGGA	NONE	.	.	hmmpanther:PTHR10159:SF106,hmmpanther:PTHR10159	.	.	ENSP00000269033	.	4/15	.	.	.	.	.	.	.	.	rs764605339	4/15	PASS	ENST00000269033	Transcript	.	.	ENSG00000141298	30580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.502)	.	tolerated(0.07)	.	SSH2_HUMAN	SSH2	HGNC	J3KSQ9_HUMAN	.	UPI00001D6272	SNV	SSH2,missense_variant,p.Pro66Ala,ENST00000592397,;SSH2,missense_variant,p.Pro86Ala,ENST00000269033,;SSH2,missense_variant,p.Pro113Ala,ENST00000540801,;RP11-68I3.2,intron_variant,,ENST00000581474,;SSH2,non_coding_transcript_exon_variant,,ENST00000324677,;SSH2,missense_variant,p.Pro86Ala,ENST00000579040,;SSH2,non_coding_transcript_exon_variant,,ENST00000577483,;SSH2,non_coding_transcript_exon_variant,,ENST00000394848,;	408	127	116	SUCCESS
APOH	350	.	GRCh37	17	64210647	64210647	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	33	179	0	ENST00000205948.6:c.906T>C	p.Asn302=	p.N302=	ENST00000205948	NM_000042.2	302	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS11663.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTATTTTT	NONE	.	.	Superfamily_domains:SSF57535,Pfam_domain:PF09014,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF46	.	.	ENSP00000205948	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000205948	Transcript	.	.	ENSG00000091583	616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOH_HUMAN	APOH	HGNC	J3QRN2_HUMAN,J3QLI0_HUMAN,D9IWP9_HUMAN	.	UPI0000125CAA	SNV	APOH,synonymous_variant,p.%3D,ENST00000205948,;APOH,intron_variant,,ENST00000585162,;APOH,downstream_gene_variant,,ENST00000581797,;	944	179	172	SUCCESS
KPNA2	3838	.	GRCh37	17	66038335	66038335	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	87	153	1	ENST00000330459.3:c.437A>G	p.Asn146Ser	p.N146S	ENST00000330459	NM_002266.2	146	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32713.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTAACATTG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316:SF12,hmmpanther:PTHR23316,PROSITE_profiles:PS50176	.	.	ENSP00000438483	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000537025	Transcript	.	.	ENSG00000182481	6395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	deleterious(0)	.	IMA1_HUMAN	KPNA2	HGNC	J3QLL0_HUMAN,J3KS65_HUMAN	.	UPI000012D5F6	SNV	KPNA2,missense_variant,p.Asn146Ser,ENST00000537025,;KPNA2,missense_variant,p.Asn146Ser,ENST00000330459,;KPNA2,downstream_gene_variant,,ENST00000579754,;KPNA2,downstream_gene_variant,,ENST00000584026,;KPNA2,upstream_gene_variant,,ENST00000582898,;KPNA2,upstream_gene_variant,,ENST00000583392,;KPNA2,downstream_gene_variant,,ENST00000583269,;	1057	154	126	SUCCESS
EVPL	2125	.	GRCh37	17	74006234	74006234	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	63	168	0	ENST00000301607.3:c.3052G>C	p.Glu1018Gln	p.E1018Q	ENST00000301607	NM_001988.2	1018	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS11737.1	3052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTCCTTGG	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Glu1040Gln,ENST00000586740,;EVPL,missense_variant,p.Glu1018Gln,ENST00000301607,;EVPL,upstream_gene_variant,,ENST00000589231,;CDK3,downstream_gene_variant,,ENST00000448471,;CDK3,downstream_gene_variant,,ENST00000425876,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;EVPL,downstream_gene_variant,,ENST00000593037,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;	3306	168	102	SUCCESS
TP53	7157	.	GRCh37	17	7577141	7577141	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs193920774	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	35	66	0	ENST00000269305.4:c.797G>T	p.Gly266Val	p.G266V	ENST00000269305	NM_001126112.2	266	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11118.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	TCCGTCCCAGT	SITE|p.G266V|c.797G>T|5,SITE|p.G266V|c.797G>T|18,SITE|p.G266V|c.797G>T|46,CODON|p.0?|c.1_1182del1182|6,CODON|p.G266fs*79|c.797delG|3,CODON|p.G266E|c.797G>A|11,CODON|p.G266E|c.797G>A|7,CODON|p.G266E|c.797G>A|17,CODON|p.G266E|c.797G>A|64,BUFFER|p.F270L|c.808T>C|16,BUFFER|p.F270I|c.808T>A|3,BUFFER|p.F270V|c.808T>G|8,BUFFER|p.F270L|c.808T>C|3,BUFFER|p.F270I|c.808T>A|6,BUFFER|p.S269S|c.807C>T|3,BUFFER|p.S269N|c.806G>A|4,BUFFER|p.S269C|c.805A>T|4,BUFFER|p.S269G|c.805A>G|3,BUFFER|p.N268H|c.802A>C|3,BUFFER|p.R267R|c.801G>T|3,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267Q|c.800G>A|3,BUFFER|p.R267P|c.800G>C|18,BUFFER|p.R267Q|c.800G>A|13,BUFFER|p.R267L|c.800G>T|6,BUFFER|p.R267L|c.800G>T|7,BUFFER|p.R267P|c.800G>C|5,BUFFER|p.R267W|c.799C>T|8,BUFFER|p.R267W|c.799C>T|4,BUFFER|p.R267W|c.799C>T|30,BUFFER|p.G266R|c.796G>A|5,BUFFER|p.G266*|c.796G>T|13,BUFFER|p.G266R|c.796G>A|7,BUFFER|p.G266R|c.796G>A|36,BUFFER|p.G266R|c.796G>C|15,BUFFER|p.G266R|c.796G>A|6,BUFFER|p.L265delL|c.792_794delACT|3,BUFFER|p.L265L|c.795G>A|3,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265P|c.794T>C|17,BUFFER|p.L265R|c.794T>G|4,BUFFER|p.L265P|c.794T>C|4,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265fs*80|c.793delC|3,BUFFER|p.L265delL|c.790_792delCTA|4,BUFFER|p.L265M|c.793C>A|5,BUFFER|p.L264fs*81|c.790delC|3,BUFFER|p.L264I|c.790C>A|3,BUFFER|p.L264L|c.790C>T|5,BUFFER|p.N263fs*82|c.787delA|3,BUFFER|p.G262delG|c.784_786delGGT|12,BUFFER|p.G262delG|c.784_786delGGT|10,BUFFER|p.G262delG|c.784_786delGGT|10	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	rs193920774,TP53_g.13777G>C,TP53_g.13777del,TP53_g.13777G>T,TP53_g.13777G>A,COSM10958,COSM44187,COSM10867,COSM45488,COSM216410,COSM99952,COSM3388173,COSM3388174,COSM1679491,COSM1646803	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Gly266Val,ENST00000420246,;TP53,missense_variant,p.Gly266Val,ENST00000269305,;TP53,missense_variant,p.Gly134Val,ENST00000509690,;TP53,missense_variant,p.Gly266Val,ENST00000359597,;TP53,missense_variant,p.Gly266Val,ENST00000445888,;TP53,missense_variant,p.Gly266Val,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	987	66	69	SUCCESS
JAK3	3718	.	GRCh37	19	17947999	17947999	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	89	0	ENST00000458235.1:c.1725G>A	p.Leu575=	p.L575=	ENST00000458235	NM_000215.3	575	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12366.1	1725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCAAGCT	BUFFER|p.A573V|c.1718C>T|10,BUFFER|p.A572V|c.1715C>T|6	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000391676	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,synonymous_variant,p.%3D,ENST00000458235,;JAK3,synonymous_variant,p.%3D,ENST00000534444,;JAK3,synonymous_variant,p.%3D,ENST00000527670,;JAK3,downstream_gene_variant,,ENST00000526008,;JAK3,non_coding_transcript_exon_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528705,;	1825	89	118	SUCCESS
CACTIN	58509	.	GRCh37	19	3623771	3623771	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	158	0	ENST00000221899.3:c.353G>T	p.Gly118Val	p.G118V	ENST00000221899		118	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45920.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCCATC	NONE	.	.	hmmpanther:PTHR21737:SF6,hmmpanther:PTHR21737	.	.	ENSP00000415078	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,missense_variant,p.Gly118Val,ENST00000221899,;CACTIN,missense_variant,p.Gly186Val,ENST00000248420,;CACTIN,missense_variant,p.Gly186Val,ENST00000429344,;CACTIN,upstream_gene_variant,,ENST00000588749,;CACTIN,missense_variant,p.Gly186Val,ENST00000585942,;CACTIN,upstream_gene_variant,,ENST00000587175,;CACTIN,upstream_gene_variant,,ENST00000589321,;	610	158	97	SUCCESS
PSG4	5672	.	GRCh37	19	43699214	43699214	+	synonymous_variant	Silent	SNP	A	A	G	rs545983733	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	20	109	0	ENST00000405312.3:c.921T>C	p.Pro307=	p.P307=	ENST00000405312	NM_002780.4	307	ccT/ccC	0	.	G:0	.	G:0	.	G	P	protein_coding	YES	CCDS46093.1	921	RADIA|MUTECT|MUSE	.	TGATAAGGTCC	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF105,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	G:0.002	.	ENSP00000384770	G:0	4/6	.	.	.	.	.	.	.	.	rs545983733	4/6	PASS	ENST00000405312	Transcript	.	G:0.0004	ENSG00000243137	9521	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	PSG4_HUMAN	PSG4	HGNC	M0QYU2_HUMAN	.	UPI000034ECBA	SNV	PSG4,synonymous_variant,p.%3D,ENST00000596907,;PSG4,synonymous_variant,p.%3D,ENST00000597374,;PSG4,synonymous_variant,p.%3D,ENST00000599746,;PSG4,synonymous_variant,p.%3D,ENST00000405312,;PSG4,synonymous_variant,p.%3D,ENST00000433626,;PSG4,intron_variant,,ENST00000599391,;PSG4,intron_variant,,ENST00000244295,;PSG4,downstream_gene_variant,,ENST00000451895,;PSG4,downstream_gene_variant,,ENST00000600572,;PSG4,downstream_gene_variant,,ENST00000599371,;PSG4,3_prime_UTR_variant,,ENST00000595949,;PSG4,3_prime_UTR_variant,,ENST00000601041,;PSG4,non_coding_transcript_exon_variant,,ENST00000597349,;PSG4,downstream_gene_variant,,ENST00000495316,;PSG4,upstream_gene_variant,,ENST00000490769,;PSG4,downstream_gene_variant,,ENST00000596199,;	1159	109	120	SUCCESS
KIR3DX1	90011	.	GRCh37	19	55047101	55047101	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	18	97	0	ENST00000221567.6:c.646G>T	p.Val216Leu	p.V216L	ENST00000221567		216	Gtg/Ttg	0	.	.	.	.	.	T	V/L	nonsense_mediated_decay	YES	.	646	RADIA|MUTECT|MUSE|VARSCANS	.	ACATTGTGATC	NONE	.	.	hmmpanther:PTHR11738:SF91,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000221567	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000221567	Transcript	.	.	ENSG00000104970	25043	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	tolerated(0.29)	.	KI3X1_HUMAN	KIR3DX1	HGNC	.	.	UPI0000DE238B	SNV	KIR3DX1,missense_variant,p.Val216Leu,ENST00000335056,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000482404,;KIR3DX1,missense_variant,p.Val216Leu,ENST00000221567,;KIR3DX1,intron_variant,,ENST00000465702,;KIR3DX1,intron_variant,,ENST00000446586,;KIR3DX1,intron_variant,,ENST00000471931,;KIR3DX1,intron_variant,,ENST00000434659,;KIR3DX1,intron_variant,,ENST00000447145,;	653	97	111	SUCCESS
EPS8L1	54869	.	GRCh37	19	55598089	55598089	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	59	0	ENST00000201647.6:c.1785C>G	p.Phe595Leu	p.F595L	ENST00000201647	NM_133180.2	595	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS12914.1	1785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCTCCCA	NONE	.	.	hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19	.	.	ENSP00000201647	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.57)	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,missense_variant,p.Phe281Leu,ENST00000588359,;EPS8L1,missense_variant,p.Phe468Leu,ENST00000245618,;EPS8L1,missense_variant,p.Phe595Leu,ENST00000201647,;EPS8L1,missense_variant,p.Phe531Leu,ENST00000540810,;EPS8L1,intron_variant,,ENST00000586329,;PPP1R12C,downstream_gene_variant,,ENST00000435544,;PPP1R12C,downstream_gene_variant,,ENST00000263433,;PPP1R12C,downstream_gene_variant,,ENST00000591938,;PPP1R12C,downstream_gene_variant,,ENST00000592993,;PPP1R12C,downstream_gene_variant,,ENST00000376393,;EPS8L1,upstream_gene_variant,,ENST00000587901,;EPS8L1,downstream_gene_variant,,ENST00000592824,;EPS8L1,downstream_gene_variant,,ENST00000585347,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,downstream_gene_variant,,ENST00000587786,;PPP1R12C,downstream_gene_variant,,ENST00000590268,;EPS8L1,downstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000590232,;EPS8L1,upstream_gene_variant,,ENST00000587715,;EPS8L1,downstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592284,;	1841	59	39	SUCCESS
TNFRSF18	8784	.	GRCh37	1	1139782	1139782	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1358133653	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	101	0	ENST00000379268.2:c.395C>A	p.Thr132Lys	p.T132K	ENST00000379268	NM_004195.2	132	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS9.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGTCCAA	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF4	.	.	ENSP00000328207	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000328596	Transcript	.	.	ENSG00000186891	11914	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	deleterious_low_confidence(0)	.	TNR18_HUMAN	TNFRSF18	HGNC	.	.	UPI000002B5CE	SNV	TNFRSF18,missense_variant,p.Thr132Lys,ENST00000379265,;TNFRSF18,missense_variant,p.Thr132Lys,ENST00000379268,;TNFRSF18,missense_variant,p.Thr60Lys,ENST00000486728,;TNFRSF18,missense_variant,p.Thr132Lys,ENST00000328596,;	395	101	71	SUCCESS
VWA1	64856	.	GRCh37	1	1372313	1372313	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	30	173	0	ENST00000476993.1:c.80C>T	p.Pro27Leu	p.P27L	ENST00000476993	NM_022834.4	27	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS27.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCAGCAT	NONE	.	.	hmmpanther:PTHR22992:SF7,hmmpanther:PTHR22992	.	.	ENSP00000417185	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000476993	Transcript	.	.	ENSG00000179403	30910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.07)	.	VWA1_HUMAN	VWA1	HGNC	J3QLP3_HUMAN	.	UPI00001D9616	SNV	VWA1,missense_variant,p.Pro27Leu,ENST00000476993,;VWA1,missense_variant,p.Pro67Leu,ENST00000471398,;VWA1,5_prime_UTR_variant,,ENST00000495558,;VWA1,intron_variant,,ENST00000404702,;VWA1,intron_variant,,ENST00000338660,;RP4-758J18.10,upstream_gene_variant,,ENST00000430109,;RP4-758J18.10,upstream_gene_variant,,ENST00000417917,;RP4-758J18.10,upstream_gene_variant,,ENST00000454562,;	158	173	113	SUCCESS
SH2D2A	9047	.	GRCh37	1	156785887	156785887	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	36	144	0	ENST00000368199.3:c.35-1G>A		p.X12_splice	ENST00000368199	NM_001161444.1	12		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53381.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCTGTGA	NONE	.	.	.	.	.	ENSP00000376123	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392306	Transcript	.	.	ENSG00000027869	10821	.	.	HIGH	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH22A_HUMAN	SH2D2A	HGNC	.	.	UPI0000F534AC	SNV	SH2D2A,splice_acceptor_variant,,ENST00000368199,;SH2D2A,splice_acceptor_variant,,ENST00000392306,;NTRK1,intron_variant,,ENST00000392302,;SH2D2A,intron_variant,,ENST00000368198,;SH2D2A,splice_acceptor_variant,,ENST00000495306,;NTRK1,intron_variant,,ENST00000489021,;SH2D2A,upstream_gene_variant,,ENST00000468744,;SH2D2A,upstream_gene_variant,,ENST00000486350,;NTRK1,intron_variant,,ENST00000497019,;	.	144	115	SUCCESS
NFASC	23114	.	GRCh37	1	204937427	204937427	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs535350909	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	121	0	ENST00000339876.6:c.757G>A	p.Ala253Thr	p.A253T	ENST00000339876	NM_001005388.2	253	Gcg/Acg	0	.	A:0	.	A:0.0014	.	A	A/T	protein_coding	YES	CCDS53460.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCGCGAGC	NONE	by1000G	.	SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50835	A:0	.	ENSP00000344786	A:0	9/30	.	.	.	.	.	.	.	.	rs535350909,COSM1338107,COSM1338106,COSM1338108	9/30	PASS	ENST00000339876	Transcript	.	A:0.0002	ENSG00000163531	29866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.273)	A:0	tolerated(0.6)	0,1,1,1	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,missense_variant,p.Ala247Thr,ENST00000404076,;NFASC,missense_variant,p.Ala253Thr,ENST00000403080,;NFASC,missense_variant,p.Ala253Thr,ENST00000367170,;NFASC,missense_variant,p.Ala253Thr,ENST00000446412,;NFASC,missense_variant,p.Ala253Thr,ENST00000338515,;NFASC,missense_variant,p.Ala264Thr,ENST00000360049,;NFASC,missense_variant,p.Ala253Thr,ENST00000401399,;NFASC,missense_variant,p.Ala264Thr,ENST00000404907,;NFASC,missense_variant,p.Ala253Thr,ENST00000367171,;NFASC,missense_variant,p.Ala264Thr,ENST00000539706,;NFASC,missense_variant,p.Ala253Thr,ENST00000339876,;NFASC,missense_variant,p.Ala223Thr,ENST00000367173,;NFASC,missense_variant,p.Ala240Thr,ENST00000430393,;NFASC,missense_variant,p.Ala264Thr,ENST00000513543,;NFASC,missense_variant,p.Ala253Thr,ENST00000367169,;NFASC,missense_variant,p.Ala253Thr,ENST00000367172,;NFASC,missense_variant,p.Ala253Thr,ENST00000338586,;NFASC,non_coding_transcript_exon_variant,,ENST00000504149,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,missense_variant,p.Ala270Thr,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;	1085	121	96	SUCCESS
USH2A	7399	.	GRCh37	1	216062335	216062335	+	synonymous_variant	Silent	SNP	G	G	A	rs373383107	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	44	0	ENST00000307340.3:c.7656C>T	p.Thr2552=	p.T2552=	ENST00000307340	NM_206933.2	2552	acC/acT	0	A:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS31025.1	7656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGGTGAC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	A:0	ENSP00000305941	.	41/72	.	.	.	.	.	.	.	.	rs373383107	41/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;RP5-1111A8.3,intron_variant,,ENST00000414995,;	8043	44	36	SUCCESS
SLC30A10	55532	.	GRCh37	1	220088994	220088994	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	50	210	0	ENST00000366926.3:c.1255G>T	p.Ala419Ser	p.A419S	ENST00000366926	NM_018713.2	419	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31026.1	1255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCCCCGG	NONE	.	.	hmmpanther:PTHR11562:SF14,hmmpanther:PTHR11562	.	.	ENSP00000355893	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366926	Transcript	.	.	ENSG00000196660	25355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.23)	.	ZNT10_HUMAN	SLC30A10	HGNC	B3KR19_HUMAN	.	UPI000040E993	SNV	SLC30A10,missense_variant,p.Ala174Ser,ENST00000536446,;SLC30A10,missense_variant,p.Ala419Ser,ENST00000366926,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	1417	210	181	SUCCESS
USP48	84196	.	GRCh37	1	22084166	22084166	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	76	0	ENST00000308271.9:c.245G>T	p.Arg82Met	p.R82M	ENST00000308271	NM_032236.5	82	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS30623.1	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTCTCA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF100	.	.	ENSP00000309262	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	deleterious(0)	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,missense_variant,p.Arg82Met,ENST00000421625,;USP48,missense_variant,p.Arg82Met,ENST00000529637,;USP48,missense_variant,p.Arg82Met,ENST00000308271,;USP48,missense_variant,p.Arg82Met,ENST00000400301,;USP48,5_prime_UTR_variant,,ENST00000532737,;USP48,5_prime_UTR_variant,,ENST00000527823,;USP48,non_coding_transcript_exon_variant,,ENST00000489108,;	894	76	73	SUCCESS
TCTEX1D1	0	.	GRCh37	1	67242056	67242056	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	44	161	0	ENST00000282670.2:c.306C>T	p.Leu102=	p.L102=	ENST00000282670	NM_152665.2	102	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS633.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCTGTAG	NONE	.	.	hmmpanther:PTHR21255,hmmpanther:PTHR21255:SF2,Pfam_domain:PF03645	.	.	ENSP00000282670	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000282670	Transcript	.	.	ENSG00000152760	26882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TC1D1_HUMAN	TCTEX1D1	HGNC	.	.	UPI000013DCF4	SNV	TCTEX1D1,synonymous_variant,p.%3D,ENST00000282670,;TCTEX1D1,downstream_gene_variant,,ENST00000448074,;TCTEX1D1,3_prime_UTR_variant,,ENST00000528352,;TCTEX1D1,non_coding_transcript_exon_variant,,ENST00000489510,;	434	161	126	SUCCESS
PTPRT	11122	.	GRCh37	20	41101120	41101120	+	synonymous_variant	Silent	SNP	G	G	A	rs376152261	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	17	124	0	ENST00000373198.4:c.1236C>T	p.Tyr412=	p.Y412=	ENST00000373198	NM_133170.3	412	taC/taT	0	A:0.0002	.	.	.	.	A	Y	protein_coding	YES	CCDS42874.1	1236	MUTECT|MUSE|VARSCANS	.	ACCGCGTAGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265	.	A:0.0001	ENSP00000362283	.	8/31	.	.	.	.	.	.	.	.	rs376152261,COSM1411874,COSM577752	8/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,synonymous_variant,p.%3D,ENST00000373201,;PTPRT,synonymous_variant,p.%3D,ENST00000356100,;PTPRT,synonymous_variant,p.%3D,ENST00000373198,;PTPRT,synonymous_variant,p.%3D,ENST00000373193,;PTPRT,synonymous_variant,p.%3D,ENST00000373184,;PTPRT,synonymous_variant,p.%3D,ENST00000373190,;PTPRT,synonymous_variant,p.%3D,ENST00000373187,;	1236	124	198	SUCCESS
DIDO1	11083	.	GRCh37	20	61512904	61512904	+	synonymous_variant	Silent	SNP	C	C	A	rs776072192	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	69	137	1	ENST00000266070.4:c.4404G>T	p.Ala1468=	p.A1468=	ENST00000266070	NM_033081.2	1468	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33506.1	4404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGTCGCAGC	NONE	byFrequency	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	16/16	.	.	.	.	.	.	.	.	rs776072192	16/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,synonymous_variant,p.%3D,ENST00000266070,;DIDO1,synonymous_variant,p.%3D,ENST00000395343,;	4730	138	155	SUCCESS
ZNF512B	57473	.	GRCh37	20	62591366	62591366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	49	0	ENST00000217130.3:c.2554A>G	p.Thr852Ala	p.T852A	ENST00000217130		852	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13548.1	2554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGTCCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3	.	.	ENSP00000393795	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.08)	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	SNV	ZNF512B,missense_variant,p.Thr852Ala,ENST00000450537,;ZNF512B,missense_variant,p.Thr852Ala,ENST00000217130,;ZNF512B,missense_variant,p.Thr852Ala,ENST00000369888,;UCKL1,upstream_gene_variant,,ENST00000354216,;UCKL1,upstream_gene_variant,,ENST00000358711,;UCKL1,upstream_gene_variant,,ENST00000369892,;UCKL1,upstream_gene_variant,,ENST00000483710,;	2615	49	51	SUCCESS
RGS19	10287	.	GRCh37	20	62708207	62708207	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	23	105	0	ENST00000332298.5:c.30+3A>G		p.X10_splice	ENST00000332298	NM_001039467.1	10		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13555.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATACCTG	NONE	.	.	.	.	.	ENSP00000378483	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395042	Transcript	.	.	ENSG00000171700	13735	.	.	LOW	2/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS19_HUMAN	RGS19	HGNC	Q9H2T9_HUMAN,B4DP94_HUMAN	.	UPI0000133838	SNV	RGS19,splice_region_variant,,ENST00000395042,;RGS19,splice_region_variant,,ENST00000332298,;TCEA2,downstream_gene_variant,,ENST00000343484,;TCEA2,downstream_gene_variant,,ENST00000361317,;OPRL1,upstream_gene_variant,,ENST00000336866,;TCEA2,downstream_gene_variant,,ENST00000395053,;TCEA2,downstream_gene_variant,,ENST00000458442,;OPRL1,upstream_gene_variant,,ENST00000355631,;RGS19,splice_region_variant,,ENST00000493165,;RGS19,intron_variant,,ENST00000479996,;TCEA2,downstream_gene_variant,,ENST00000475236,;TCEA2,downstream_gene_variant,,ENST00000465433,;TCEA2,downstream_gene_variant,,ENST00000477783,;TCEA2,downstream_gene_variant,,ENST00000461072,;TCEA2,downstream_gene_variant,,ENST00000465111,;TCEA2,downstream_gene_variant,,ENST00000495168,;	.	105	125	SUCCESS
C21orf33	0	.	GRCh37	21	45553649	45553649	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769750960	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	51	0	ENST00000291577.6:c.70G>A	p.Gly24Ser	p.G24S	ENST00000291577	NM_004649.6	24	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS33580.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCCCCGGCGGT	NONE	.	.	hmmpanther:PTHR10224:SF7,hmmpanther:PTHR10224	.	.	ENSP00000291577	.	1/7	.	.	.	.	.	.	.	.	rs769750960	1/7	PASS	ENST00000291577	Transcript	.	.	ENSG00000160221	1273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.54)	.	ES1_HUMAN	C21orf33	HGNC	.	.	UPI0000169D5E	SNV	C21orf33,missense_variant,p.Gly24Ser,ENST00000291577,;C21orf33,missense_variant,p.Gly24Ser,ENST00000427803,;C21orf33,missense_variant,p.Gly24Ser,ENST00000348499,;C21orf33,upstream_gene_variant,,ENST00000449622,;C21orf33,upstream_gene_variant,,ENST00000389690,;C21orf33,upstream_gene_variant,,ENST00000419699,;PWP2,downstream_gene_variant,,ENST00000291576,;C21orf33,non_coding_transcript_exon_variant,,ENST00000493883,;C21orf33,non_coding_transcript_exon_variant,,ENST00000480786,;C21orf33,non_coding_transcript_exon_variant,,ENST00000495007,;C21orf33,upstream_gene_variant,,ENST00000470545,;C21orf33,upstream_gene_variant,,ENST00000488392,;	163	51	12	SUCCESS
LZTR1	8216	.	GRCh37	22	21351518	21351518	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	81	442	1	ENST00000215739.8:c.2407-3C>T		p.X803_splice	ENST00000215739	NM_006767.3	803		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33606.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CCTTACAGGTC	NONE	.	.	.	.	.	ENSP00000215739	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000215739	Transcript	.	.	ENSG00000099949	6742	.	.	LOW	20/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	SNV	LZTR1,splice_region_variant,,ENST00000215739,;LZTR1,splice_region_variant,,ENST00000389355,;LZTR1,3_prime_UTR_variant,,ENST00000415817,;THAP7,downstream_gene_variant,,ENST00000399133,;THAP7,downstream_gene_variant,,ENST00000215742,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;LZTR1,splice_region_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,splice_region_variant,,ENST00000452988,;LZTR1,splice_region_variant,,ENST00000498649,;LZTR1,splice_region_variant,,ENST00000463909,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000492480,;THAP7,downstream_gene_variant,,ENST00000488975,;THAP7,downstream_gene_variant,,ENST00000471723,;LZTR1,downstream_gene_variant,,ENST00000491432,;LZTR1,downstream_gene_variant,,ENST00000439171,;THAP7,downstream_gene_variant,,ENST00000476667,;THAP7,downstream_gene_variant,,ENST00000498406,;LZTR1,downstream_gene_variant,,ENST00000495142,;THAP7,downstream_gene_variant,,ENST00000471073,;LZTR1,downstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000415354,;	.	443	281	SUCCESS
MN1	4330	.	GRCh37	22	28193384	28193384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	80	0	ENST00000302326.4:c.3148A>T	p.Ser1050Cys	p.S1050C	ENST00000302326	NM_002430.2	1050	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS42998.1	3148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCTCACCT	NONE	.	.	hmmpanther:PTHR15821	.	.	ENSP00000304956	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302326	Transcript	.	.	ENSG00000169184	7180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	.	.	MN1_HUMAN	MN1	HGNC	A5HML1_HUMAN	.	UPI0000207445	SNV	MN1,missense_variant,p.Ser1050Cys,ENST00000302326,;MN1,upstream_gene_variant,,ENST00000424656,;	4103	80	45	SUCCESS
RPL3	6122	.	GRCh37	22	39709288	39709288	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	31	129	0	ENST00000216146.4:c.1075G>T	p.Ala359Ser	p.A359S	ENST00000216146	NM_001033853.1	359	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13988.1	1075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCCGCC	NONE	.	.	hmmpanther:PTHR11363,Gene3D:2.40.30.10,Superfamily_domains:SSF50447	.	.	ENSP00000346001	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000216146	Transcript	.	.	ENSG00000100316	10332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.11)	.	RL3_HUMAN	RPL3	HGNC	Q9NY85_HUMAN,Q9BT63_HUMAN,Q8TBW1_HUMAN,Q49AJ9_HUMAN,G5E9G0_HUMAN,B5MCW2_HUMAN,B4DN06_HUMAN	.	UPI0000167B7E	SNV	RPL3,missense_variant,p.Ala307Ser,ENST00000401609,;RPL3,missense_variant,p.Ala359Ser,ENST00000216146,;RPL3,downstream_gene_variant,,ENST00000453303,;RPL3,downstream_gene_variant,,ENST00000402527,;RPL3,downstream_gene_variant,,ENST00000427905,;SNORD83A,downstream_gene_variant,,ENST00000386747,;SNORD83B,downstream_gene_variant,,ENST00000386745,;RPL3,non_coding_transcript_exon_variant,,ENST00000465618,;RPL3,downstream_gene_variant,,ENST00000471290,;RPL3,non_coding_transcript_exon_variant,,ENST00000464182,;RPL3,non_coding_transcript_exon_variant,,ENST00000473638,;RPL3,non_coding_transcript_exon_variant,,ENST00000467105,;RPL3,downstream_gene_variant,,ENST00000498462,;RPL3,downstream_gene_variant,,ENST00000420536,;RPL3,downstream_gene_variant,,ENST00000484358,;RPL3,downstream_gene_variant,,ENST00000481985,;RPL3,downstream_gene_variant,,ENST00000460589,;RPL3,downstream_gene_variant,,ENST00000484615,;RPL3,downstream_gene_variant,,ENST00000461967,;	1249	129	129	SUCCESS
CELSR1	9620	.	GRCh37	22	46792623	46792623	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765095935	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	102	0	ENST00000262738.3:c.5722G>T	p.Val1908Leu	p.V1908L	ENST00000262738	NM_014246.1	1908	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS14076.1	5722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACACAGT	NONE	.	.	SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,hmmpanther:PTHR24026,PROSITE_profiles:PS50026	.	.	ENSP00000262738	.	13/35	.	.	.	.	.	.	.	.	rs765095935,COSM1327183	13/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	tolerated(0.06)	0,1	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,missense_variant,p.Val1908Leu,ENST00000262738,;	5722	102	56	SUCCESS
MAP4K4	9448	.	GRCh37	2	102480445	102480445	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	136	0	ENST00000347699.4:c.1867-947A>G		p.*623*	ENST00000347699	NM_145687.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56130.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTAAGTCA	NONE	.	.	.	.	.	ENSP00000314363	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000347699	Transcript	.	.	ENSG00000071054	6866	.	.	MODIFIER	16/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M4K4_HUMAN	MAP4K4	HGNC	Q53TW0_HUMAN,E7ETN6_HUMAN	.	UPI00000747E2	SNV	MAP4K4,missense_variant,p.Lys417Glu,ENST00000421882,;MAP4K4,missense_variant,p.Lys572Glu,ENST00000350878,;MAP4K4,missense_variant,p.Lys212Glu,ENST00000418101,;MAP4K4,missense_variant,p.Lys677Glu,ENST00000324219,;MAP4K4,intron_variant,,ENST00000456652,;MAP4K4,intron_variant,,ENST00000347699,;MAP4K4,intron_variant,,ENST00000425019,;MAP4K4,intron_variant,,ENST00000302217,;MAP4K4,intron_variant,,ENST00000350198,;MAP4K4,intron_variant,,ENST00000413150,;MAP4K4,intron_variant,,ENST00000417294,;MAP4K4,upstream_gene_variant,,ENST00000498066,;MAP4K4,upstream_gene_variant,,ENST00000477711,;MAP4K4,upstream_gene_variant,,ENST00000491743,;MAP4K4,downstream_gene_variant,,ENST00000476609,;	.	136	141	SUCCESS
GAD1	2571	.	GRCh37	2	171700595	171700595	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1215136344	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	39	191	0	ENST00000358196.3:c.679C>A	p.Gln227Lys	p.Q227K	ENST00000358196	NM_000817.2	227	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS2239.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACAAATA	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF57,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000350928	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000358196	Transcript	.	.	ENSG00000128683	4092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated(0.4)	.	DCE1_HUMAN	GAD1	HGNC	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN	.	UPI000002D729	SNV	GAD1,missense_variant,p.Gln227Lys,ENST00000358196,;GAD1,downstream_gene_variant,,ENST00000375272,;GAD1,downstream_gene_variant,,ENST00000344257,;GAD1,non_coding_transcript_exon_variant,,ENST00000429023,;GAD1,missense_variant,p.Gln227Lys,ENST00000493875,;GAD1,non_coding_transcript_exon_variant,,ENST00000462739,;GAD1,intron_variant,,ENST00000414527,;GAD1,upstream_gene_variant,,ENST00000488724,;	1229	191	163	SUCCESS
RAD51AP2	729475	.	GRCh37	2	17696823	17696823	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	144	0	ENST00000399080.2:c.2860G>T	p.Glu954Ter	p.E954*	ENST00000399080	NM_001099218.2	954	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42656.1	2860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTCTGTTG	NONE	.	.	.	.	.	ENSP00000382030	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000399080	Transcript	.	.	ENSG00000214842	34417	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R51A2_HUMAN	RAD51AP2	HGNC	.	.	UPI0000418FD4	SNV	RAD51AP2,stop_gained,p.Glu954Ter,ENST00000399080,;	2884	144	110	SUCCESS
PUM2	23369	.	GRCh37	2	20490545	20490545	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs530419740	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	131	0	ENST00000338086.5:c.1159C>G	p.Arg387Gly	p.R387G	ENST00000338086	NM_015317.1	387	Cgt/Ggt	0	.	A:0	.	A:0	.	C	R/G	protein_coding	YES	CCDS1698.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACGGAGAA	NONE	by1000G	.	hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537	A:0	.	ENSP00000338173	A:0	9/20	.	.	.	.	.	.	.	.	rs530419740	9/20	PASS	ENST00000338086	Transcript	.	A:0.0000	ENSG00000055917	14958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	deleterious_low_confidence(0.02)	.	PUM2_HUMAN	PUM2	HGNC	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN	.	UPI0000001665	SNV	PUM2,missense_variant,p.Arg387Gly,ENST00000403432,;PUM2,missense_variant,p.Arg387Gly,ENST00000319801,;PUM2,missense_variant,p.Arg387Gly,ENST00000338086,;PUM2,missense_variant,p.Arg278Gly,ENST00000440577,;PUM2,missense_variant,p.Arg331Gly,ENST00000536417,;PUM2,missense_variant,p.Arg387Gly,ENST00000361078,;	1182	131	97	SUCCESS
IKZF2	22807	.	GRCh37	2	213914450	213914450	+	synonymous_variant	Silent	SNP	G	G	A	rs1284713718	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	74	0	ENST00000434687.1:c.561C>T	p.Leu187=	p.L187=	ENST00000434687		187	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2395.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGAGGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000410447	.	5/8	.	.	.	.	.	.	.	.	COSM1752316	5/8	PASS	ENST00000457361	Transcript	.	.	ENSG00000030419	13177	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IKZF2_HUMAN	IKZF2	HGNC	Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN	.	UPI000013D4DA	SNV	IKZF2,synonymous_variant,p.%3D,ENST00000457361,;IKZF2,synonymous_variant,p.%3D,ENST00000434687,;IKZF2,synonymous_variant,p.%3D,ENST00000421754,;IKZF2,synonymous_variant,p.%3D,ENST00000451136,;IKZF2,synonymous_variant,p.%3D,ENST00000342002,;IKZF2,synonymous_variant,p.%3D,ENST00000374319,;IKZF2,synonymous_variant,p.%3D,ENST00000413091,;IKZF2,intron_variant,,ENST00000374327,;IKZF2,downstream_gene_variant,,ENST00000433134,;IKZF2,synonymous_variant,p.%3D,ENST00000431520,;IKZF2,3_prime_UTR_variant,,ENST00000453575,;IKZF2,3_prime_UTR_variant,,ENST00000439848,;IKZF2,3_prime_UTR_variant,,ENST00000412444,;IKZF2,3_prime_UTR_variant,,ENST00000374326,;	730	74	75	SUCCESS
SPAG16	79582	.	GRCh37	2	214354720	214354720	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	92	0	ENST00000331683.5:c.976C>T	p.Pro326Ser	p.P326S	ENST00000331683	NM_024532.4	326	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2396.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCCAAAC	NONE	.	.	hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604	.	.	ENSP00000332592	.	10/16	.	.	.	.	.	.	.	.	COSM3577398	10/16	PASS	ENST00000331683	Transcript	.	.	ENSG00000144451	23225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.39)	.	tolerated(0.11)	1	SPG16_HUMAN	SPAG16	HGNC	Q53TL7_HUMAN,Q53TF1_HUMAN,Q53SC3_HUMAN,Q53RV6_HUMAN,Q53RF0_HUMAN,Q53R35_HUMAN,Q53QP6_HUMAN	.	UPI00001AFF12	SNV	SPAG16,missense_variant,p.Pro232Ser,ENST00000374309,;SPAG16,missense_variant,p.Pro12Ser,ENST00000451561,;SPAG16,missense_variant,p.Pro326Ser,ENST00000331683,;SPAG16,3_prime_UTR_variant,,ENST00000452556,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;	1071	92	91	SUCCESS
SPEG	10290	.	GRCh37	2	220348819	220348819	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	141	0	ENST00000312358.7:c.6634C>T	p.Gln2212Ter	p.Q2212*	ENST00000312358	NM_005876.4	2212	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS42824.1	6634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCAAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,stop_gained,p.Gln2212Ter,ENST00000312358,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	6766	141	57	SUCCESS
ARMC9	80210	.	GRCh37	2	232209780	232209780	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771301737	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	65	0	ENST00000349938.4:c.1972G>A	p.Gly658Ser	p.G658S	ENST00000349938	NM_025139.4	658	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS2484.1	1972	MUTECT|MUSE	.	CCGGCGGCCAC	NONE	byFrequency	.	hmmpanther:PTHR14881	.	.	ENSP00000258417	.	21/21	.	.	.	.	.	.	.	.	rs771301737	21/21	PASS	ENST00000349938	Transcript	.	.	ENSG00000135931	20730	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.96)	.	ARMC9_HUMAN	ARMC9	HGNC	C9JW07_HUMAN	.	UPI00001AE7AC	SNV	ARMC9,missense_variant,p.Gly658Ser,ENST00000349938,;ARMC9,non_coding_transcript_exon_variant,,ENST00000483477,;ARMC9,3_prime_UTR_variant,,ENST00000428662,;ARMC9,non_coding_transcript_exon_variant,,ENST00000486787,;	2166	65	77	SUCCESS
QPCT	25797	.	GRCh37	2	37580079	37580079	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	32	0	ENST00000338415.3:c.267+1G>T		p.X89_splice	ENST00000338415	NM_012413.3	89		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1790.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGTGAGA	NONE	.	.	.	.	.	ENSP00000344829	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338415	Transcript	.	.	ENSG00000115828	9753	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QPCT_HUMAN	QPCT	HGNC	.	.	UPI000000DC4F	SNV	QPCT,splice_donor_variant,,ENST00000338415,;QPCT,intron_variant,,ENST00000404976,;QPCT,intron_variant,,ENST00000537448,;QPCT,splice_donor_variant,,ENST00000470075,;	.	32	40	SUCCESS
SPTBN1	6711	.	GRCh37	2	54858501	54858501	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772780138	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	55	186	0	ENST00000356805.4:c.3317A>G	p.Asn1106Ser	p.N1106S	ENST00000356805	NM_003128.2	1106	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33198.1	3317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAACATCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	16/36	.	.	.	.	.	.	.	.	rs772780138	16/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.25)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Asn1093Ser,ENST00000333896,;SPTBN1,missense_variant,p.Asn1106Ser,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000389980,;	3598	186	184	SUCCESS
KIAA1841	84542	.	GRCh37	2	61324923	61324923	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	37	176	0	ENST00000402291.1:c.1301G>T	p.Gly434Val	p.G434V	ENST00000402291	NM_001129993.1	434	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46296.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGCACTG	NONE	.	.	hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946,Pfam_domain:PF11822	.	.	ENSP00000385579	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	tolerated(0.06)	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,missense_variant,p.Gly434Val,ENST00000453873,;KIAA1841,missense_variant,p.Gly434Val,ENST00000402291,;KIAA1841,missense_variant,p.Gly434Val,ENST00000356719,;KIAA1841,missense_variant,p.Gly434Val,ENST00000295031,;KIAA1841,downstream_gene_variant,,ENST00000483509,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;	1542	177	144	SUCCESS
NFU1	27247	.	GRCh37	2	69642381	69642381	+	synonymous_variant	Silent	SNP	T	T	A	rs768949114	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	46	225	0	ENST00000410022.2:c.420A>T	p.Thr140=	p.T140=	ENST00000410022	NM_001002755.2	140	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33217.1	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATTGTTGC	NONE	byFrequency	.	hmmpanther:PTHR11178,hmmpanther:PTHR11178:SF1,Pfam_domain:PF08712,Gene3D:2ffmA00,SMART_domains:SM00932,PIRSF_domain:PIRSF036773,Superfamily_domains:0042426	.	.	ENSP00000387219	.	5/8	.	.	.	.	.	.	.	.	rs768949114	5/8	PASS	ENST00000410022	Transcript	.	.	ENSG00000169599	16287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFU1_HUMAN	NFU1	HGNC	F8W9P7_HUMAN,C9J8Q1_HUMAN	.	UPI00001B3DAF	SNV	NFU1,synonymous_variant,p.%3D,ENST00000410022,;NFU1,synonymous_variant,p.%3D,ENST00000303698,;NFU1,5_prime_UTR_variant,,ENST00000394305,;NFU1,5_prime_UTR_variant,,ENST00000462320,;NFU1,5_prime_UTR_variant,,ENST00000484177,;NFU1,5_prime_UTR_variant,,ENST00000450796,;NFU1,non_coding_transcript_exon_variant,,ENST00000471185,;NFU1,synonymous_variant,p.%3D,ENST00000474230,;NFU1,3_prime_UTR_variant,,ENST00000438184,;NFU1,3_prime_UTR_variant,,ENST00000419370,;	626	225	195	SUCCESS
KDM3A	55818	.	GRCh37	2	86709144	86709144	+	synonymous_variant	Silent	SNP	G	G	A	rs771659588	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	46	151	0	ENST00000312912.5:c.2604G>A	p.Thr868=	p.T868=	ENST00000312912	NM_018433.5	868	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1990.1	2604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACGTTTAA	NONE	byFrequency	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7	.	.	ENSP00000386660	.	18/27	.	.	.	.	.	.	.	.	rs771659588	18/27	PASS	ENST00000409556	Transcript	.	.	ENSG00000115548	20815	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM3A_HUMAN	KDM3A	HGNC	C9JC73_HUMAN,C9J7Q7_HUMAN	.	UPI0000161FAE	SNV	KDM3A,synonymous_variant,p.%3D,ENST00000542128,;KDM3A,synonymous_variant,p.%3D,ENST00000409064,;KDM3A,synonymous_variant,p.%3D,ENST00000409556,;KDM3A,synonymous_variant,p.%3D,ENST00000312912,;KDM3A,upstream_gene_variant,,ENST00000462197,;KDM3A,3_prime_UTR_variant,,ENST00000441719,;KDM3A,upstream_gene_variant,,ENST00000491383,;	2969	151	162	SUCCESS
MYH15	22989	.	GRCh37	3	108204062	108204062	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	61	118	0	ENST00000273353.3:c.1050C>A	p.Ile350=	p.I350=	ENST00000273353	NM_014981.1	350	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS43127.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGATGTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000273353	.	12/42	.	.	.	.	.	.	.	.	.	12/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,synonymous_variant,p.%3D,ENST00000273353,;	1107	118	110	SUCCESS
MFN1	55669	.	GRCh37	3	179096370	179096370	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	42	0	ENST00000471841.1:c.1433-3T>C		p.X478_splice	ENST00000471841	NM_033540.2	478		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3228.1	.	RADIA|MUSE	.	CTTTCTAGAAA	NONE	.	.	.	.	.	ENSP00000420617	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000471841	Transcript	.	.	ENSG00000171109	18262	.	.	LOW	13/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MFN1_HUMAN	MFN1	HGNC	C9JXQ1_HUMAN,C9JQT7_HUMAN	.	UPI000013D495	SNV	MFN1,splice_region_variant,,ENST00000263969,;MFN1,splice_region_variant,,ENST00000471841,;MFN1,intron_variant,,ENST00000474903,;MFN1,intron_variant,,ENST00000280653,;MFN1,splice_region_variant,,ENST00000482661,;MFN1,splice_region_variant,,ENST00000357390,;MFN1,non_coding_transcript_exon_variant,,ENST00000480636,;MFN1,downstream_gene_variant,,ENST00000466287,;	.	42	31	SUCCESS
KLHL6	89857	.	GRCh37	3	183209982	183209982	+	synonymous_variant	Silent	SNP	C	C	G	rs932157964	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	31	94	0	ENST00000341319.3:c.1599G>C	p.Pro533=	p.P533=	ENST00000341319	NM_130446.2	533	ccG/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3245.2	1599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCGGGCT	NONE	.	.	hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000341342	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000341319	Transcript	.	.	ENSG00000172578	18653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL6_HUMAN	KLHL6	HGNC	.	.	UPI0000169CB9	SNV	KLHL6,synonymous_variant,p.%3D,ENST00000341319,;KLHL6,synonymous_variant,p.%3D,ENST00000468734,;KLHL6,non_coding_transcript_exon_variant,,ENST00000489245,;	1635	94	39	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913400	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	65	283	0	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33C|c.98C>G|191,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	283	258	SUCCESS
MANBA	4126	.	GRCh37	4	103590162	103590162	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	31	133	0	ENST00000226578.4:c.1275T>C	p.Asp425=	p.D425=	ENST00000226578	NM_005908.3	425	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3658.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGATCAGT	NONE	.	.	hmmpanther:PTHR10066:SF12,hmmpanther:PTHR10066,Gene3D:3.20.20.80,Pfam_domain:PF02836,Superfamily_domains:SSF51445	.	.	ENSP00000226578	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000226578	Transcript	1	.	ENSG00000109323	6831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANBA_HUMAN	MANBA	HGNC	.	.	UPI000013C8A2	SNV	MANBA,synonymous_variant,p.%3D,ENST00000226578,;MANBA,synonymous_variant,p.%3D,ENST00000505239,;MANBA,non_coding_transcript_exon_variant,,ENST00000514430,;	1375	133	115	SUCCESS
FBXW7	55294	.	GRCh37	4	153253841	153253841	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs112892452	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	95	0	ENST00000281708.4:c.892C>A	p.Pro298Thr	p.P298T	ENST00000281708	NM_033632.3	298	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3777.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGTTCCA	NONE	.	.	Superfamily_domains:SSF81383,SMART_domains:SM00256,Gene3D:1.20.1280.50,Pfam_domain:PF12937,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF116,PROSITE_profiles:PS50181	.	.	ENSP00000281708	.	6/12	.	.	.	.	.	.	.	.	rs112892452,COSM30597	6/12	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.983)	.	deleterious(0.04)	0,1	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,missense_variant,p.Pro298Thr,ENST00000603548,;FBXW7,missense_variant,p.Pro218Thr,ENST00000263981,;FBXW7,missense_variant,p.Pro180Thr,ENST00000296555,;FBXW7,missense_variant,p.Pro122Thr,ENST00000393956,;FBXW7,missense_variant,p.Pro298Thr,ENST00000281708,;FBXW7,missense_variant,p.Pro298Thr,ENST00000603841,;RP11-461L13.2,upstream_gene_variant,,ENST00000605147,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604069,;FBXW7,upstream_gene_variant,,ENST00000603821,;	2122	95	107	SUCCESS
ADAM29	11086	.	GRCh37	4	175897585	175897585	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	58	225	1	ENST00000359240.3:c.909T>A	p.Phe303Leu	p.F303L	ENST00000359240	NM_014269.4	303	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS3823.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTTAGAGG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.29)	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Phe303Leu,ENST00000514159,;ADAM29,missense_variant,p.Phe303Leu,ENST00000445694,;ADAM29,missense_variant,p.Phe303Leu,ENST00000404450,;ADAM29,missense_variant,p.Phe303Leu,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	1579	226	196	SUCCESS
KLHL5	51088	.	GRCh37	4	39116973	39116973	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	97	0	ENST00000504108.1:c.2211+24del		p.*737*	ENST00000504108	NM_015990.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33974.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATTATTACAC	NONE	.	.	.	.	.	ENSP00000423897	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000504108	Transcript	.	.	ENSG00000109790	6356	1	.	MODIFIER	10/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLHL5_HUMAN	KLHL5	HGNC	Q642I3_HUMAN	.	UPI000013D185	deletion	KLHL5,frameshift_variant,p.Thr746HisfsTer2,ENST00000381930,;KLHL5,intron_variant,,ENST00000359687,;KLHL5,intron_variant,,ENST00000508137,;KLHL5,intron_variant,,ENST00000504108,;KLHL5,intron_variant,,ENST00000261426,;KLHL5,intron_variant,,ENST00000515612,;KLHL5,intron_variant,,ENST00000261425,;RP11-360F5.1,intron_variant,,ENST00000509449,;	.	97	74	SUCCESS
FRAS1	80144	.	GRCh37	4	79166410	79166410	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	136	0	ENST00000264895.6:c.240C>T	p.Ala80=	p.A80=	ENST00000264895	NM_025074.6	80	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54771.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCAACCA	NONE	.	.	PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603	.	.	ENSP00000264895	.	4/74	.	.	.	.	.	.	.	.	.	4/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,synonymous_variant,p.%3D,ENST00000502446,;FRAS1,synonymous_variant,p.%3D,ENST00000325942,;FRAS1,synonymous_variant,p.%3D,ENST00000264899,;FRAS1,synonymous_variant,p.%3D,ENST00000264895,;	680	136	131	SUCCESS
HERC6	55008	.	GRCh37	4	89318063	89318063	+	synonymous_variant	Silent	SNP	A	A	G	rs1282523298	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	52	150	1	ENST00000264346.7:c.948A>G	p.Pro316=	p.P316=	ENST00000264346	NM_017912.3	316	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS47098.1	948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAAGTGA	NONE	.	.	Superfamily_domains:SSF50985,Gene3D:2.130.10.30,hmmpanther:PTHR11254:SF297,hmmpanther:PTHR11254	.	.	ENSP00000264346	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000264346	Transcript	.	.	ENSG00000138642	26072	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC6_HUMAN	HERC6	HGNC	B3KUG6_HUMAN	.	UPI00004C7A84	SNV	HERC6,synonymous_variant,p.%3D,ENST00000380265,;HERC6,synonymous_variant,p.%3D,ENST00000264346,;HERC6,intron_variant,,ENST00000273960,;HERC6,non_coding_transcript_exon_variant,,ENST00000515365,;HERC6,intron_variant,,ENST00000506714,;	1007	152	158	SUCCESS
PCDHB1	29930	.	GRCh37	5	140433269	140433269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	33	123	0	ENST00000306549.3:c.2214C>A	p.Asn738Lys	p.N738K	ENST00000306549	NM_013340.2	738	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS4243.1	2214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAACAACCT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88	.	.	ENSP00000307234	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306549	Transcript	.	.	ENSG00000171815	8680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious(0)	.	PCDB1_HUMAN	PCDHB1	HGNC	.	.	UPI000013EB56	SNV	PCDHB1,missense_variant,p.Asn738Lys,ENST00000306549,;	2291	123	126	SUCCESS
HAPLN1	1404	.	GRCh37	5	82937472	82937472	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772034939	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	188	62	202	0	ENST00000274341.4:c.908G>T	p.Arg303Leu	p.R303L	ENST00000274341	NM_001884.3	303	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS4061.1	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCGGTCA	BUFFER|p.G300*|c.898G>T|3	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF10,PROSITE_patterns:PS01241,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000274341	.	5/5	.	.	.	.	.	.	.	.	rs772034939	5/5	PASS	ENST00000274341	Transcript	.	.	ENSG00000145681	2380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0.01)	.	HPLN1_HUMAN	HAPLN1	HGNC	D6RG04_HUMAN,D6RC59_HUMAN,D6RBX9_HUMAN,D6RBS1_HUMAN	.	UPI0000131BFF	SNV	HAPLN1,missense_variant,p.Arg303Leu,ENST00000274341,;HAPLN1,downstream_gene_variant,,ENST00000510978,;HAPLN1,downstream_gene_variant,,ENST00000508307,;HAPLN1,downstream_gene_variant,,ENST00000503117,;HAPLN1,downstream_gene_variant,,ENST00000504713,;	1759	202	251	SUCCESS
AIM1	0	.	GRCh37	6	106968959	106968959	+	synonymous_variant	Silent	SNP	G	G	T	rs199971648	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	94	0	ENST00000369066.3:c.2652G>T	p.Pro884=	p.P884=	ENST00000369066	NM_001624.2	884	ccG/ccT	0	T:0	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS34506.1	2652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCCCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818	T:0	T:0.0001	ENSP00000358062	T:0.001	2/20	.	.	.	.	.	.	.	.	rs199971648,COSM1544778	2/20	PASS	ENST00000369066	Transcript	.	T:0.0002	ENSG00000112297	356	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,synonymous_variant,p.%3D,ENST00000369066,;	3139	94	90	SUCCESS
SLC22A16	85413	.	GRCh37	6	110752455	110752455	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145203259	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	38	0	ENST00000368919.3:c.1440C>A	p.Ser480Arg	p.S480R	ENST00000368919	NM_033125.3	480	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS5084.1	1440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCTTCC	NONE	byCluster	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF00083,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF206,PROSITE_profiles:PS50850	.	.	ENSP00000357915	.	7/8	.	.	.	.	.	.	.	.	rs145203259	7/8	PASS	ENST00000368919	Transcript	.	.	ENSG00000004809	20302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	S22AG_HUMAN	SLC22A16	HGNC	Q96ER0_HUMAN,C9JU94_HUMAN,C9JGT0_HUMAN	.	UPI000000DC13	SNV	SLC22A16,missense_variant,p.Ser480Arg,ENST00000439654,;SLC22A16,missense_variant,p.Ser480Arg,ENST00000368919,;SLC22A16,missense_variant,p.Ser446Arg,ENST00000330550,;SLC22A16,missense_variant,p.Ser397Arg,ENST00000451557,;	1507	38	25	SUCCESS
WDR27	253769	.	GRCh37	6	170065609	170065609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	84	0	ENST00000448612.1:c.756G>T	p.Gln252His	p.Q252H	ENST00000448612	NM_182552.4	252	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47520.2	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCTGCCT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF313,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000416289	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000448612	Transcript	.	.	ENSG00000184465	21248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.04)	.	WDR27_HUMAN	WDR27	HGNC	F8VUY7_HUMAN	.	UPI00015E06AF	SNV	WDR27,missense_variant,p.Ser167Ile,ENST00000420344,;WDR27,missense_variant,p.Gln252His,ENST00000333572,;WDR27,missense_variant,p.Gln252His,ENST00000448612,;WDR27,missense_variant,p.Gln125His,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000441385,;WDR27,non_coding_transcript_exon_variant,,ENST00000546525,;WDR27,non_coding_transcript_exon_variant,,ENST00000486490,;WDR27,downstream_gene_variant,,ENST00000464249,;WDR27,upstream_gene_variant,,ENST00000467418,;WDR27,non_coding_transcript_exon_variant,,ENST00000496752,;WDR27,downstream_gene_variant,,ENST00000546953,;WDR27,upstream_gene_variant,,ENST00000476322,;	866	84	132	SUCCESS
ERMARD	55780	.	GRCh37	6	170159125	170159125	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	67	223	0	ENST00000366773.3:c.569G>T	p.Trp190Leu	p.W190L	ENST00000366773	NM_018341.2	190	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS34576.1	569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATGGCATG	NONE	.	.	hmmpanther:PTHR31701,hmmpanther:PTHR31701:SF2,Pfam_domain:PF13910	.	.	ENSP00000355735	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000366773	Transcript	.	.	ENSG00000130023	21056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EMARD_HUMAN	ERMARD	HGNC	K7EMW5_HUMAN,K7EME8_HUMAN,F8WAF1_HUMAN	.	UPI000020DF6E	SNV	ERMARD,missense_variant,p.Trp64Leu,ENST00000392095,;ERMARD,missense_variant,p.Trp156Leu,ENST00000586341,;ERMARD,missense_variant,p.Trp190Leu,ENST00000366773,;ERMARD,missense_variant,p.Trp190Leu,ENST00000418781,;ERMARD,missense_variant,p.Trp64Leu,ENST00000590711,;ERMARD,missense_variant,p.Trp190Leu,ENST00000366772,;ERMARD,missense_variant,p.Trp64Leu,ENST00000588451,;ERMARD,downstream_gene_variant,,ENST00000592745,;ERMARD,downstream_gene_variant,,ENST00000588437,;ERMARD,downstream_gene_variant,,ENST00000592367,;ERMARD,3_prime_UTR_variant,,ENST00000590017,;ERMARD,downstream_gene_variant,,ENST00000592315,;ERMARD,downstream_gene_variant,,ENST00000592580,;	602	223	252	SUCCESS
NUP153	9972	.	GRCh37	6	17637675	17637675	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756935695	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	193	266	0	ENST00000262077.2:c.2173A>G	p.Thr725Ala	p.T725A	ENST00000262077	NM_001278210.1	725	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS4541.1	2173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTGCCTA	NONE	.	.	Superfamily_domains:SSF90209,SMART_domains:SM00547,Pfam_domain:PF00641,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18,PROSITE_profiles:PS50199	.	.	ENSP00000262077	.	16/22	.	.	.	.	.	.	.	.	rs756935695	16/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	deleterious(0.04)	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,missense_variant,p.Thr756Ala,ENST00000537253,;NUP153,missense_variant,p.Thr725Ala,ENST00000262077,;	2173	266	316	SUCCESS
ZNF318	24149	.	GRCh37	6	43322734	43322734	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	398	109	316	0	ENST00000361428.2:c.2338G>T	p.Gly780Ter	p.G780*	ENST00000361428	NM_014345.2	780	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS4895.2	2338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCCTGGT	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,stop_gained,p.Gly780Ter,ENST00000361428,;ZNF318,stop_gained,p.Gly780Ter,ENST00000318149,;ZNF318,stop_gained,p.Gly780Ter,ENST00000605935,;	2416	316	507	SUCCESS
CFTR	1080	.	GRCh37	7	117176688	117176688	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs672601317	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	24	0	ENST00000003084.6:c.830G>T	p.Trp277Leu	p.W277L	ENST00000003084	NM_000492.3	277	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS5773.1	830	RADIA|MUSE	pathogenic	CTGCTGGGAAG	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF19,hmmpanther:PTHR24223,Pfam_domain:PF00664,TIGRFAM_domain:TIGR01271,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000003084	.	7/27	.	.	.	.	.	.	.	.	rs672601317	7/27	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,missense_variant,p.Trp247Leu,ENST00000426809,;CFTR,missense_variant,p.Trp277Leu,ENST00000454343,;CFTR,missense_variant,p.Trp277Leu,ENST00000003084,;	962	24	35	SUCCESS
CSMD3	114788	.	GRCh37	8	113651094	113651094	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs145905619	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	90	96	1	ENST00000297405.5:c.3357C>G	p.Asp1119Glu	p.D1119E	ENST00000297405	NM_198123.1	1119	gaC/gaG	0	A:0	.	.	.	.	C	D/E	protein_coding	YES	CCDS6315.1	3357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGTCATG	NONE	byCluster	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	A:0.0001	ENSP00000297405	.	21/71	.	.	.	.	.	.	.	.	rs145905619,COSM603799,COSM1144868	21/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.9)	.	deleterious(0.01)	0,1,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Asp1119Glu,ENST00000352409,;CSMD3,missense_variant,p.Asp1015Glu,ENST00000455883,;CSMD3,missense_variant,p.Asp1119Glu,ENST00000297405,;CSMD3,missense_variant,p.Asp459Glu,ENST00000339701,;CSMD3,missense_variant,p.Asp1079Glu,ENST00000343508,;MIR2053,upstream_gene_variant,,ENST00000459295,;	3602	97	142	SUCCESS
TRPS1	7227	.	GRCh37	8	116427073	116427073	+	synonymous_variant	Silent	SNP	A	A	G	rs778852142	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	35	150	0	ENST00000220888.5:c.3024T>C	p.Gly1008=	p.G1008=	ENST00000220888		1008	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS6318.2	3063	RADIA|MUTECT|MUSE|VARSCANS	.	AATGAACCCTG	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	7/7	.	.	.	.	.	.	.	.	rs778852142	7/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,synonymous_variant,p.%3D,ENST00000520276,;TRPS1,synonymous_variant,p.%3D,ENST00000220888,;TRPS1,synonymous_variant,p.%3D,ENST00000518018,;TRPS1,synonymous_variant,p.%3D,ENST00000519076,;TRPS1,synonymous_variant,p.%3D,ENST00000395715,;	3641	150	269	SUCCESS
PLEC	5339	.	GRCh37	8	144991598	144991598	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	18	85	0	ENST00000322810.4:c.12802T>G	p.Ser4268Ala	p.S4268A	ENST00000322810	NM_201380.2	4268	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS43772.1	12802	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGACGTCT	NONE	.	.	SMART_domains:SM00250,hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915,Low_complexity_(Seg):seg	.	.	ENSP00000323856	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,missense_variant,p.Ser4268Ala,ENST00000322810,;PLEC,missense_variant,p.Ser4154Ala,ENST00000527096,;PLEC,missense_variant,p.Ser4131Ala,ENST00000345136,;PLEC,missense_variant,p.Ser4135Ala,ENST00000357649,;PLEC,missense_variant,p.Ser4099Ala,ENST00000398774,;PLEC,missense_variant,p.Ser4131Ala,ENST00000354589,;PLEC,missense_variant,p.Ser4117Ala,ENST00000356346,;PLEC,missense_variant,p.Ser4158Ala,ENST00000436759,;PLEC,missense_variant,p.Ser4109Ala,ENST00000354958,;PLEC,downstream_gene_variant,,ENST00000527303,;	12972	85	131	SUCCESS
TERF1	7013	.	GRCh37	8	73921159	73921159	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	40	208	0	ENST00000276603.5:c.38G>C	p.Arg13Pro	p.R13P	ENST00000276603	NM_017489.2	13	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS6211.1	38	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGGGGCT	NONE	.	.	PIRSF_domain:PIRSF038016	.	.	ENSP00000276603	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000276603	Transcript	.	.	ENSG00000147601	11728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.93)	.	deleterious_low_confidence(0.03)	.	TERF1_HUMAN	TERF1	HGNC	.	.	UPI000013DAD5	SNV	TERF1,missense_variant,p.Arg13Pro,ENST00000276602,;TERF1,missense_variant,p.Arg13Pro,ENST00000276603,;TERF1,missense_variant,p.Arg13Pro,ENST00000518874,;TERF1,upstream_gene_variant,,ENST00000517390,;TERF1,non_coding_transcript_exon_variant,,ENST00000518695,;	61	208	261	SUCCESS
EPB41L4B	54566	.	GRCh37	9	112004035	112004035	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	71	201	0	ENST00000374566.3:c.1409+1863C>T		p.*470*	ENST00000374566	NM_019114.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43859.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGTCATC	NONE	.	.	.	.	.	ENSP00000363694	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374566	Transcript	.	.	ENSG00000095203	19818	.	.	MODIFIER	15/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41LB_HUMAN	EPB41L4B	HGNC	.	.	UPI0000458994	SNV	EPB41L4B,synonymous_variant,p.%3D,ENST00000374557,;EPB41L4B,intron_variant,,ENST00000374566,;	.	201	213	SUCCESS
PALM2-AKAP2	0	.	GRCh37	9	112694224	112694224	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	94	1	ENST00000374530.3:c.412T>A	p.Ser138Thr	p.S138T	ENST00000374530	NM_007203.4	138	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS35100.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTTCCTCC	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10	.	.	ENSP00000363654	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000374530	Transcript	.	.	ENSG00000157654	33529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.201)	.	tolerated(0.2)	.	.	PALM2-AKAP2	HGNC	.	.	UPI0000125755	SNV	PALM2-AKAP2,missense_variant,p.Ser138Thr,ENST00000374530,;PALM2,missense_variant,p.Ser140Thr,ENST00000448454,;PALM2-AKAP2,missense_variant,p.Ser138Thr,ENST00000413420,;PALM2,missense_variant,p.Ser124Thr,ENST00000497711,;PALM2,missense_variant,p.Ser138Thr,ENST00000314527,;PALM2-AKAP2,missense_variant,p.Ser138Thr,ENST00000302798,;AKAP2,missense_variant,p.Ser138Thr,ENST00000510514,;AKAP2,missense_variant,p.Ser138Thr,ENST00000555236,;PALM2,intron_variant,,ENST00000374531,;PALM2,intron_variant,,ENST00000483909,;	592	95	77	SUCCESS
ENHO	375704	.	GRCh37	9	34521798	34521798	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	89	0	ENST00000399775.2:c.-105G>A		p.*35*	ENST00000399775	NM_198573.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43795.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCTGTCT	NONE	.	.	.	.	.	ENSP00000382675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000399775	Transcript	.	.	ENSG00000168913	24838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENHO_HUMAN	ENHO	HGNC	.	.	UPI00000283B4	SNV	ENHO,5_prime_UTR_variant,,ENST00000399775,;DNAI1,downstream_gene_variant,,ENST00000442556,;DNAI1,downstream_gene_variant,,ENST00000242317,;RP11-296L22.8,intron_variant,,ENST00000439960,;DNAI1,downstream_gene_variant,,ENST00000485580,;DNAI1,downstream_gene_variant,,ENST00000470169,;	322	89	76	SUCCESS
JAK2	3717	.	GRCh37	9	5072525	5072525	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	83	0	ENST00000381652.3:c.1675A>C	p.Ile559Leu	p.I559L	ENST00000381652	NM_004972.3	559	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS6457.1	1675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGATTTTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF55550,Superfamily_domains:SSF56112	.	.	ENSP00000371067	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000381652	Transcript	.	.	ENSG00000096968	6192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0.03)	.	JAK2_HUMAN	JAK2	HGNC	Q8IXP2_HUMAN,F5H5U8_HUMAN	.	UPI000012DA9E	SNV	JAK2,missense_variant,p.Ile410Leu,ENST00000544510,;JAK2,missense_variant,p.Ile559Leu,ENST00000539801,;JAK2,missense_variant,p.Ile559Leu,ENST00000381652,;AL161450.1,downstream_gene_variant,,ENST00000601793,;	2169	83	73	SUCCESS
OGN	4969	.	GRCh37	9	95155381	95155381	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	66	165	0	ENST00000262551.4:c.414T>C	p.Asp138=	p.D138=	ENST00000262551	NM_033014.2	138	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS6695.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAATCTTT	NONE	.	.	hmmpanther:PTHR24371:SF5,hmmpanther:PTHR24371,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000262551	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000262551	Transcript	.	.	ENSG00000106809	8126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIME_HUMAN	OGN	HGNC	A8K0R3_HUMAN	.	UPI00000540ED	SNV	OGN,synonymous_variant,p.%3D,ENST00000447356,;OGN,synonymous_variant,p.%3D,ENST00000375561,;OGN,synonymous_variant,p.%3D,ENST00000262551,;CENPP,intron_variant,,ENST00000375587,;OGN,non_coding_transcript_exon_variant,,ENST00000468743,;	835	165	173	SUCCESS
MIR892B	100126307	.	GRCh37	X	145078746	145078746	+	mature_miRNA_variant	RNA	SNP	T	T	A	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	97	209	0	ENST00000401279.1:n.47A>T		p.*16*	ENST00000401279				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTGACAT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000401279	Transcript	.	.	ENSG00000216098	33649	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR892B	HGNC	.	.	.	SNV	MIR892B,mature_miRNA_variant,,ENST00000401279,;MIR891B,downstream_gene_variant,,ENST00000401245,;MIR888,upstream_gene_variant,,ENST00000401186,;MIR892A,upstream_gene_variant,,ENST00000401124,;MIR890,upstream_gene_variant,,ENST00000401256,;hsa-mir-892c,upstream_gene_variant,,ENST00000516410,;	47	209	159	SUCCESS
CPN1	1369	.	GRCh37	10	101802222	101802222	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	69	0	ENST00000370418.3:c.1339G>A	p.Glu447Lys	p.E447K	ENST00000370418	NM_001308.2	447	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7486.1	1339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTTTCT	NONE	.	.	hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532	.	.	ENSP00000359446	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370418	Transcript	1	.	ENSG00000120054	2312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.43)	.	CBPN_HUMAN	CPN1	HGNC	B1AP59_HUMAN,B1AP58_HUMAN	.	UPI00000012AC	SNV	CPN1,missense_variant,p.Glu447Lys,ENST00000370418,;	1591	69	77	SUCCESS
SHOC2	8036	.	GRCh37	10	112723994	112723994	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	13	0	ENST00000369452.4:c.-123T>C		p.*41*	ENST00000369452	NM_007373.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7568.1	.	RADIA|MUSE	.	CTCCATGCTGA	NONE	.	.	.	.	.	ENSP00000358464	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000369452	Transcript	1	.	ENSG00000108061	15454	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SHOC2_HUMAN	SHOC2	HGNC	.	.	UPI0000135954	SNV	SHOC2,5_prime_UTR_variant,,ENST00000369452,;SHOC2,5_prime_UTR_variant,,ENST00000265277,;SHOC2,upstream_gene_variant,,ENST00000451838,;SHOC2,non_coding_transcript_exon_variant,,ENST00000489783,;SHOC2,non_coding_transcript_exon_variant,,ENST00000480155,;SHOC2,intron_variant,,ENST00000489390,;SHOC2,upstream_gene_variant,,ENST00000497305,;	223	13	18	SUCCESS
TUBGCP2	10844	.	GRCh37	10	135099037	135099037	+	synonymous_variant	Silent	SNP	C	C	A	rs760797156	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	39	0	ENST00000252936.3:c.1818G>T	p.Thr606=	p.T606=	ENST00000252936		606	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS58105.1	1902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCGTGGG	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF13,Pfam_domain:PF04130	.	.	ENSP00000446093	.	12/18	.	.	.	.	.	.	.	.	rs760797156	12/18	PASS	ENST00000543663	Transcript	.	.	ENSG00000130640	18599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCP2_HUMAN	TUBGCP2	HGNC	B3KTU7_HUMAN	.	UPI00020651C0	SNV	TUBGCP2,synonymous_variant,p.%3D,ENST00000252936,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368562,;TUBGCP2,synonymous_variant,p.%3D,ENST00000417178,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368563,;TUBGCP2,synonymous_variant,p.%3D,ENST00000543663,;TUBGCP2,upstream_gene_variant,,ENST00000477923,;TUBGCP2,synonymous_variant,p.%3D,ENST00000482278,;	1942	39	34	SUCCESS
ANKRD26	22852	.	GRCh37	10	27389068	27389068	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	35	0	ENST00000376087.4:c.188A>G	p.Gln63Arg	p.Q63R	ENST00000376087	NM_014915.2	63	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS41499.1	188	RADIA|MUTECT|VARSCANS	.	TCTGCTGCACT	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17,PROSITE_profiles:PS50297	.	.	ENSP00000365255	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.017)	.	tolerated(0.14)	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,missense_variant,p.Gln63Arg,ENST00000376087,;ANKRD26,missense_variant,p.Gln63Arg,ENST00000436985,;	354	35	37	SUCCESS
CCAR1	55749	.	GRCh37	10	70509281	70509281	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	10	0	ENST00000265872.6:c.957T>C		p.X319_splice	ENST00000265872	NM_018237.2	319	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7282.1	957	RADIA|VARSCANS	.	TTCAGTCGTGA	NONE	.	.	hmmpanther:PTHR14304:SF13,hmmpanther:PTHR14304,Low_complexity_(Seg):seg	.	.	ENSP00000265872	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000265872	Transcript	.	.	ENSG00000060339	24236	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCAR1_HUMAN	CCAR1	HGNC	F5H7M9_HUMAN,F5H3I8_HUMAN,F5H1H2_HUMAN	.	UPI000004D30A	SNV	CCAR1,synonymous_variant,p.%3D,ENST00000535016,;CCAR1,synonymous_variant,p.%3D,ENST00000543225,;CCAR1,synonymous_variant,p.%3D,ENST00000539539,;CCAR1,synonymous_variant,p.%3D,ENST00000543719,;CCAR1,synonymous_variant,p.%3D,ENST00000265872,;CCAR1,synonymous_variant,p.%3D,ENST00000536012,;CCAR1,synonymous_variant,p.%3D,ENST00000540210,;CCAR1,synonymous_variant,p.%3D,ENST00000541012,;CCAR1,splice_region_variant,,ENST00000543229,;	1076	10	15	SUCCESS
TACR2	6865	.	GRCh37	10	71175879	71175879	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	39	0	ENST00000373306.4:c.201C>T	p.Val67=	p.V67=	ENST00000373306	NM_001057.2	67	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7293.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGACTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF208,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000362403	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000373306	Transcript	.	.	ENSG00000075073	11527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NK2R_HUMAN	TACR2	HGNC	A6NEW7_HUMAN	.	UPI0000061EE3	SNV	TACR2,synonymous_variant,p.%3D,ENST00000373306,;	745	39	73	SUCCESS
SYNPO2L	79933	.	GRCh37	10	75408416	75408416	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	48	0	ENST00000394810.2:c.994G>T	p.Glu332Ter	p.E332*	ENST00000394810	NM_001114133.1	332	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS44438.1	994	RADIA|VARSCANS	.	GGACTCACTCG	NONE	.	.	hmmpanther:PTHR24217:SF10,hmmpanther:PTHR24217	.	.	ENSP00000378289	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000394810	Transcript	.	.	ENSG00000166317	23532	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYP2L_HUMAN	SYNPO2L	HGNC	U3KQD0_HUMAN	.	UPI000042704D	SNV	SYNPO2L,stop_gained,p.Glu108Ter,ENST00000372873,;SYNPO2L,stop_gained,p.Glu332Ter,ENST00000394810,;SYNPO2L,downstream_gene_variant,,ENST00000606523,;	1144	48	40	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75548453	75548453	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	45	0	ENST00000605216.1:c.234G>A	p.Glu78=	p.E78=	ENST00000605216	NM_001242487.1	78	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS44440.1	234	MUTECT|VARSCANS	.	GTGGAGCTGTC	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,synonymous_variant,p.%3D,ENST00000605216,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604729,;ZSWIM8,synonymous_variant,p.%3D,ENST00000398706,;ZSWIM8,synonymous_variant,p.%3D,ENST00000604524,;ZSWIM8,synonymous_variant,p.%3D,ENST00000603114,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000451629,;ZSWIM8,synonymous_variant,p.%3D,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000492395,;ZSWIM8,downstream_gene_variant,,ENST00000446546,;	451	45	34	SUCCESS
NDST2	8509	.	GRCh37	10	75567716	75567716	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	48	0	ENST00000299641.4:c.62T>C	p.Leu21Pro	p.L21P	ENST00000299641	NM_003635.3	21	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS7335.1	431	RADIA|VARSCANS	.	ACTTGAGCAGG	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36,Pfam_domain:PF12062	.	.	ENSP00000310657	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000309979	Transcript	.	.	ENSG00000166507	7681	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	tolerated(0.14)	.	NDST2_HUMAN	NDST2	HGNC	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN	.	UPI0000001C41	SNV	NDST2,missense_variant,p.Leu21Pro,ENST00000299641,;NDST2,missense_variant,p.Leu144Pro,ENST00000309979,;CAMK2G,downstream_gene_variant,,ENST00000322680,;CAMK2G,downstream_gene_variant,,ENST00000322635,;CAMK2G,downstream_gene_variant,,ENST00000394762,;CAMK2G,downstream_gene_variant,,ENST00000423381,;CAMK2G,downstream_gene_variant,,ENST00000351293,;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,downstream_gene_variant,,ENST00000465929,;NDST2,upstream_gene_variant,,ENST00000463410,;NDST2,downstream_gene_variant,,ENST00000398701,;RP11-574K11.31,missense_variant,p.Leu144Pro,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;	988	48	43	SUCCESS
ACTA2	59	.	GRCh37	10	90695109	90695109	+	synonymous_variant	Silent	SNP	C	C	A	rs775742052	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	33	0	ENST00000224784.6:c.1005G>T	p.Pro335=	p.P335=	ENST00000224784	NM_001613.2	335	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7392.1	1005	RADIA|VARSCANS	.	CGCTCCGGAGG	NONE	.	.	hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000402373	.	9/9	.	.	.	.	.	.	.	.	rs775742052,COSM158657	9/9	PASS	ENST00000458208	Transcript	1	.	ENSG00000107796	130	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	ACTA_HUMAN	ACTA2	HGNC	D2JYH4_HUMAN,Q562S2_HUMAN,F6UVQ4_HUMAN,F6QUT6_HUMAN,B4DUI8_HUMAN,B3KPP5_HUMAN	.	UPI0000000E0F	SNV	ACTA2,synonymous_variant,p.%3D,ENST00000224784,;ACTA2,synonymous_variant,p.%3D,ENST00000458208,;STAMBPL1,intron_variant,,ENST00000371927,;ACTA2-AS1,non_coding_transcript_exon_variant,,ENST00000437930,;ACTA2-AS1,upstream_gene_variant,,ENST00000596007,;	1480	33	35	SUCCESS
MUC6	4588	.	GRCh37	11	1026952	1026952	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763956171	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	50	0	ENST00000421673.2:c.2383G>A	p.Gly795Ser	p.G795S	ENST00000421673	NM_005961.2	795	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS44513.1	2383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACCGGTGG	NONE	byFrequency	.	Superfamily_domains:SSF57567,Pfam_domain:PF01826,Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264	.	.	ENSP00000406861	.	19/33	.	.	.	.	.	.	.	.	rs763956171	19/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Gly795Ser,ENST00000421673,;MUC6,downstream_gene_variant,,ENST00000525923,;	2434	50	68	SUCCESS
CASP4	837	.	GRCh37	11	104820474	104820474	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs559503139	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	92	0	ENST00000444739.2:c.577A>G	p.Thr193Ala	p.T193A	ENST00000444739	NM_001225.3	193	Acc/Gcc	0	.	C:0.0008	.	C:0	.	C	T/A	protein_coding	YES	CCDS8327.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTAGCAA	BUFFER|p.R194R|c.582A>G|3	byCluster|by1000G	.	PROSITE_profiles:PS50208,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF137,Pfam_domain:PF00656,Gene3D:3.40.50.1460,PIRSF_domain:PIRSF038001,SMART_domains:SM00115,Superfamily_domains:SSF52129	C:0	.	ENSP00000388566	C:0	5/9	.	.	.	.	.	.	.	.	rs559503139,COSM4017405	5/9	PASS	ENST00000444739	Transcript	.	C:0.0002	ENSG00000196954	1505	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	C:0	tolerated(1)	0,1	CASP4_HUMAN	CASP4	HGNC	Q7KYX7_HUMAN,E9PMT1_HUMAN	.	UPI000003AEFA	SNV	CASP4,missense_variant,p.Thr137Ala,ENST00000393150,;CASP4,missense_variant,p.Thr193Ala,ENST00000444739,;CASP4,downstream_gene_variant,,ENST00000417440,;CASP4,upstream_gene_variant,,ENST00000533252,;CASP4,non_coding_transcript_exon_variant,,ENST00000531333,;CASP4,non_coding_transcript_exon_variant,,ENST00000529183,;CASP4,non_coding_transcript_exon_variant,,ENST00000524843,;CASP4,non_coding_transcript_exon_variant,,ENST00000533730,;CASP4,non_coding_transcript_exon_variant,,ENST00000529565,;CASP4,downstream_gene_variant,,ENST00000531546,;CASP4,upstream_gene_variant,,ENST00000534356,;CASP4,upstream_gene_variant,,ENST00000530309,;CASP4,upstream_gene_variant,,ENST00000525116,;	1488	92	46	SUCCESS
GRIA4	2893	.	GRCh37	11	105782639	105782639	+	intron_variant	Intron	SNP	G	G	T	rs777178132	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	105	0	ENST00000282499.5:c.1269+1368G>T		p.*423*	ENST00000282499	NM_000829.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8333.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAGAAAGA	NONE	.	.	.	.	.	ENSP00000282499	.	.	.	.	.	.	.	.	.	.	rs777178132	.	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODIFIER	10/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,3_prime_UTR_variant,,ENST00000428631,;GRIA4,3_prime_UTR_variant,,ENST00000393125,;GRIA4,intron_variant,,ENST00000282499,;GRIA4,intron_variant,,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,;GRIA4,intron_variant,,ENST00000525187,;	.	105	69	SUCCESS
KBTBD3	143879	.	GRCh37	11	105925003	105925003	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	132	0	ENST00000526793.1:c.413C>G	p.Ser138Cys	p.S138C	ENST00000526793	NM_152433.3	138	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS8334.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGATAGG	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF5,Low_complexity_(Seg):seg	.	.	ENSP00000436262	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000526793	Transcript	.	.	ENSG00000182359	22934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	tolerated(0.1)	.	KBTB3_HUMAN	KBTBD3	HGNC	G3V161_HUMAN,E9PKJ3_HUMAN	.	UPI00001BDB79	SNV	KBTBD3,missense_variant,p.Ser138Cys,ENST00000531837,;KBTBD3,missense_variant,p.Ser138Cys,ENST00000526793,;KBTBD3,missense_variant,p.Ser59Cys,ENST00000534815,;KBTBD3,downstream_gene_variant,,ENST00000531482,;KBTBD3,downstream_gene_variant,,ENST00000532662,;KBTBD3,downstream_gene_variant,,ENST00000528483,;	573	132	69	SUCCESS
ALKBH8	91801	.	GRCh37	11	107375536	107375536	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	53	0	ENST00000389568.3:c.1843G>T	p.Gly615Ter	p.G615*	ENST00000389568		615	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS8337.2	1843	RADIA|VARSCANS	.	GGATCCTATGG	NONE	.	.	hmmpanther:PTHR13069:SF21,hmmpanther:PTHR13069	.	.	ENSP00000415885	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000428149	Transcript	.	.	ENSG00000137760	25189	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALKB8_HUMAN	ALKBH8	HGNC	.	.	UPI0000EE3A38	SNV	ALKBH8,stop_gained,p.Gly615Ter,ENST00000428149,;ALKBH8,stop_gained,p.Gly618Ter,ENST00000417449,;ALKBH8,stop_gained,p.Gly615Ter,ENST00000389568,;ALKBH8,intron_variant,,ENST00000429370,;ALKBH8,3_prime_UTR_variant,,ENST00000260318,;	1995	53	35	SUCCESS
ATM	472	.	GRCh37	11	108121612	108121612	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	63	0	ENST00000278616.4:c.1420A>G	p.Ser474Gly	p.S474G	ENST00000278616	NM_000051.3	474	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS31669.1	1420	RADIA|VARSCANS	.	TAGAAAGCTCA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	10/63	.	.	.	.	.	.	.	.	.	10/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.21)	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,missense_variant,p.Ser474Gly,ENST00000278616,;ATM,missense_variant,p.Ser474Gly,ENST00000527805,;ATM,missense_variant,p.Ser474Gly,ENST00000452508,;ATM,upstream_gene_variant,,ENST00000533526,;ATM,upstream_gene_variant,,ENST00000525012,;	1805	63	39	SUCCESS
OR8B8	26493	.	GRCh37	11	124310110	124310110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147220624	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	62	0	ENST00000328064.2:c.872G>A	p.Ser291Asn	p.S291N	ENST00000328064	NM_012378.1	291	aGc/aAc	0	A:0.0018	A:0.0045	.	A:0	.	T	S/N	protein_coding	YES	CCDS8446.1	872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCTATAA	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF5,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	A:0	A:0	ENSP00000330280	A:0	1/1	.	.	.	.	.	.	.	.	rs147220624	1/1	PASS	ENST00000328064	Transcript	.	A:0.0012	ENSG00000197125	8477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	A:0	deleterious_low_confidence(0)	.	OR8B8_HUMAN	OR8B8	HGNC	.	.	UPI00000015B1	SNV	OR8B8,missense_variant,p.Ser291Asn,ENST00000328064,;	945	62	32	SUCCESS
OR8B8	26493	.	GRCh37	11	124310343	124310343	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	80	0	ENST00000328064.2:c.639C>A	p.Thr213=	p.T213=	ENST00000328064	NM_012378.1	213	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS8446.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGGTGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF5,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330280	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328064	Transcript	.	.	ENSG00000197125	8477	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8B8_HUMAN	OR8B8	HGNC	.	.	UPI00000015B1	SNV	OR8B8,synonymous_variant,p.%3D,ENST00000328064,;	712	80	38	SUCCESS
TIRAP	114609	.	GRCh37	11	126162958	126162958	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	21	0	ENST00000392679.1:c.646+8A>G		p.X216_splice	ENST00000392679		216		0	.	.	.	.	.	G	L	protein_coding	YES	CCDS41731.1	654	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAGCTACTACA	BUFFER|p.R215H|c.644G>A|3	.	.	hmmpanther:PTHR22662:SF0,hmmpanther:PTHR22662,PIRSF_domain:PIRSF037750	.	.	ENSP00000376445	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392678	Transcript	.	.	ENSG00000150455	17192	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TIRAP_HUMAN	TIRAP	HGNC	.	.	UPI0000136FBA	SNV	TIRAP,synonymous_variant,p.%3D,ENST00000392678,;TIRAP,splice_region_variant,,ENST00000392680,;TIRAP,splice_region_variant,,ENST00000392679,;RP11-712L6.5,downstream_gene_variant,,ENST00000524964,;RP11-712L6.7,non_coding_transcript_exon_variant,,ENST00000533378,;TIRAP,downstream_gene_variant,,ENST00000467006,;RP11-712L6.5,downstream_gene_variant,,ENST00000528876,;TIRAP,downstream_gene_variant,,ENST00000462401,;TIRAP,splice_region_variant,,ENST00000479770,;TIRAP,downstream_gene_variant,,ENST00000488598,;	1083	21	16	SUCCESS
ABCC8	6833	.	GRCh37	11	17464837	17464837	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	28	0	ENST00000389817.3:c.1355T>C	p.Leu452Pro	p.L452P	ENST00000389817		452	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31437.1	1355	RADIA|VARSCANS	.	AGTAGAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000374467	.	9/39	.	.	.	.	.	.	.	.	.	9/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Leu452Pro,ENST00000389817,;ABCC8,missense_variant,p.Leu452Pro,ENST00000302539,;ABCC8,upstream_gene_variant,,ENST00000528202,;ABCC8,missense_variant,p.Leu452Pro,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526002,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;	1424	28	34	SUCCESS
TRIM44	54765	.	GRCh37	11	35684743	35684743	+	synonymous_variant	Silent	SNP	G	G	T	rs771344870	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	15	0	ENST00000299413.5:c.84G>T	p.Gly28=	p.G28=	ENST00000299413	NM_017583.4	28	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS31461.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGGCCGA	NONE	byFrequency	.	hmmpanther:PTHR24103:SF104,hmmpanther:PTHR24103	.	.	ENSP00000299413	.	1/5	.	.	.	.	.	.	.	.	rs771344870	1/5	PASS	ENST00000299413	Transcript	.	.	ENSG00000166326	19016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI44_HUMAN	TRIM44	HGNC	.	.	UPI00000725C5	SNV	TRIM44,synonymous_variant,p.%3D,ENST00000299413,;RP1-276E15.1,downstream_gene_variant,,ENST00000525573,;	391	15	21	SUCCESS
CHRM4	1132	.	GRCh37	11	46406927	46406927	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1395969075	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	61	0	ENST00000433765.2:c.1181G>A	p.Arg394Gln	p.R394Q	ENST00000433765	NM_000741.2	394	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS44581.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGGGCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF60,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000409378	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000433765	Transcript	.	.	ENSG00000180720	1953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ACM4_HUMAN	CHRM4	HGNC	.	.	UPI00001252BB	SNV	CHRM4,missense_variant,p.Arg394Gln,ENST00000433765,;MDK,downstream_gene_variant,,ENST00000395565,;MDK,downstream_gene_variant,,ENST00000359803,;MDK,downstream_gene_variant,,ENST00000533952,;DGKZ,downstream_gene_variant,,ENST00000456247,;MDK,downstream_gene_variant,,ENST00000441869,;DGKZ,downstream_gene_variant,,ENST00000543978,;DGKZ,downstream_gene_variant,,ENST00000343674,;MDK,downstream_gene_variant,,ENST00000395566,;DGKZ,downstream_gene_variant,,ENST00000454345,;MDK,downstream_gene_variant,,ENST00000395569,;MDK,downstream_gene_variant,,ENST00000407067,;DGKZ,downstream_gene_variant,,ENST00000395574,;MDK,downstream_gene_variant,,ENST00000405308,;MDK,downstream_gene_variant,,ENST00000533283,;DGKZ,downstream_gene_variant,,ENST00000524984,;DGKZ,downstream_gene_variant,,ENST00000534802,;MDK,downstream_gene_variant,,ENST00000481047,;MDK,downstream_gene_variant,,ENST00000489525,;DGKZ,downstream_gene_variant,,ENST00000528173,;DGKZ,downstream_gene_variant,,ENST00000527211,;MDK,downstream_gene_variant,,ENST00000490240,;	1181	61	80	SUCCESS
MADD	8567	.	GRCh37	11	47308084	47308084	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	35	0	ENST00000311027.5:c.2652A>G		p.X884_splice	ENST00000311027	NM_003682.3	884	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS7930.1	2652	RADIA|VARSCANS	.	CTGAAAGGTAA	NONE	.	.	hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008	.	.	ENSP00000310933	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000311027	Transcript	.	.	ENSG00000110514	6766	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MADD_HUMAN	MADD	HGNC	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN	.	UPI000013E874	SNV	MADD,synonymous_variant,p.%3D,ENST00000395336,;MADD,synonymous_variant,p.%3D,ENST00000349238,;MADD,synonymous_variant,p.%3D,ENST00000402192,;MADD,synonymous_variant,p.%3D,ENST00000311027,;MADD,synonymous_variant,p.%3D,ENST00000402799,;MADD,synonymous_variant,p.%3D,ENST00000406482,;MADD,synonymous_variant,p.%3D,ENST00000395344,;MADD,synonymous_variant,p.%3D,ENST00000342922,;MADD,synonymous_variant,p.%3D,ENST00000407859,;MADD,splice_region_variant,,ENST00000524686,;MADD,intron_variant,,ENST00000524530,;MADD,downstream_gene_variant,,ENST00000489415,;	2817	35	32	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57080520	57080520	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	41	0	ENST00000358252.3:c.1642C>G	p.Pro548Ala	p.P548A	ENST00000358252	NM_033396.2	548	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS7951.1	1642	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGATCAT	NONE	.	.	hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	4/11	.	.	.	.	.	.	.	.	COSM3809571	4/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.062)	.	tolerated(0.1)	1	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,missense_variant,p.Pro548Ala,ENST00000532437,;TNKS1BP1,missense_variant,p.Pro548Ala,ENST00000358252,;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	1954	41	120	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57080609	57080609	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	22	0	ENST00000358252.3:c.1553C>T	p.Ser518Phe	p.S518F	ENST00000358252	NM_033396.2	518	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS7951.1	1553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGAAACG	NONE	.	.	hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,missense_variant,p.Ser518Phe,ENST00000532437,;TNKS1BP1,missense_variant,p.Ser518Phe,ENST00000358252,;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	1865	22	75	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57080662	57080662	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	15	0	ENST00000358252.3:c.1500C>A	p.Ile500=	p.I500=	ENST00000358252	NM_033396.2	500	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS7951.1	1500	RADIA|MUTECT|MUSE	.	TCAGTGATGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,synonymous_variant,p.%3D,ENST00000532437,;TNKS1BP1,synonymous_variant,p.%3D,ENST00000358252,;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	1812	15	53	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57080675	57080675	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1009751208	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	13	0	ENST00000358252.3:c.1487C>T	p.Pro496Leu	p.P496L	ENST00000358252	NM_033396.2	496	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS7951.1	1487	RADIA|MUTECT	.	AGGGAGGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	SNV	TNKS1BP1,missense_variant,p.Pro496Leu,ENST00000532437,;TNKS1BP1,missense_variant,p.Pro496Leu,ENST00000358252,;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	1799	13	43	SUCCESS
CNIH2	254263	.	GRCh37	11	66050758	66050758	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	17	57	0	ENST00000311445.6:c.351T>G	p.Tyr117Ter	p.Y117*	ENST00000311445	NM_182553.2	117	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS8131.1	351	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGTATGATGC	BUFFER|p.A119V|c.356C>T|3	.	.	hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF13,Pfam_domain:PF03311	.	.	ENSP00000310003	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000311445	Transcript	.	.	ENSG00000174871	28744	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNIH2_HUMAN	CNIH2	HGNC	.	.	UPI000000DC89	SNV	CNIH2,stop_gained,p.Tyr117Ter,ENST00000528852,;CNIH2,stop_gained,p.Tyr117Ter,ENST00000311445,;YIF1A,downstream_gene_variant,,ENST00000359461,;YIF1A,downstream_gene_variant,,ENST00000496746,;YIF1A,downstream_gene_variant,,ENST00000376901,;YIF1A,downstream_gene_variant,,ENST00000431556,;YIF1A,downstream_gene_variant,,ENST00000471387,;YIF1A,downstream_gene_variant,,ENST00000528575,;RP11-867G23.3,upstream_gene_variant,,ENST00000501708,;CNIH2,non_coding_transcript_exon_variant,,ENST00000530519,;YIF1A,downstream_gene_variant,,ENST00000526497,;CNIH2,3_prime_UTR_variant,,ENST00000528063,;CNIH2,non_coding_transcript_exon_variant,,ENST00000531936,;YIF1A,downstream_gene_variant,,ENST00000376899,;CNIH2,downstream_gene_variant,,ENST00000534826,;YIF1A,downstream_gene_variant,,ENST00000474986,;YIF1A,downstream_gene_variant,,ENST00000485820,;YIF1A,downstream_gene_variant,,ENST00000484814,;YIF1A,downstream_gene_variant,,ENST00000494836,;YIF1A,downstream_gene_variant,,ENST00000534374,;	609	57	28	SUCCESS
CCND1	595	.	GRCh37	11	69457804	69457804	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	12	0	ENST00000227507.2:c.204C>T	p.Cys68=	p.C68=	ENST00000227507	NM_053056.2	68	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS8191.1	204	RADIA|VARSCANS	.	GTCTGCGAGGA	NONE	.	.	Superfamily_domains:SSF47954,PIRSF_domain:PIRSF001771,SMART_domains:SM00385,Pfam_domain:PF00134,Gene3D:1.10.472.10,PROSITE_patterns:PS00292,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF67,Low_complexity_(Seg):seg	.	.	ENSP00000227507	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000227507	Transcript	.	.	ENSG00000110092	1582	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCND1_HUMAN	CCND1	HGNC	Q9H014_HUMAN,Q6FI00_HUMAN,Q5MGB2_HUMAN	.	UPI0000001285	SNV	CCND1,synonymous_variant,p.%3D,ENST00000227507,;CCND1,intron_variant,,ENST00000536559,;CCND1,non_coding_transcript_exon_variant,,ENST00000535993,;CCND1,non_coding_transcript_exon_variant,,ENST00000539241,;CCND1,upstream_gene_variant,,ENST00000542367,;CCND1,upstream_gene_variant,,ENST00000545484,;	431	12	36	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73022229	73022229	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs934073278	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	71	0	ENST00000263674.3:c.2546C>T	p.Pro849Leu	p.P849L	ENST00000263674	NM_014786.3	849	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS8221.1	2546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.63)	.	deleterious_low_confidence(0)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Pro849Leu,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,;	2896	71	35	SUCCESS
SLCO2B1	11309	.	GRCh37	11	74911286	74911286	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	19	0	ENST00000289575.5:c.1617C>T	p.Cys539=	p.C539=	ENST00000289575	NM_007256.4	539	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS8235.1	1617	RADIA|VARSCANS	.	AACTGCAGCTG	NONE	.	.	Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,PROSITE_profiles:PS51465	.	.	ENSP00000289575	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000289575	Transcript	.	.	ENSG00000137491	10962	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SO2B1_HUMAN	SLCO2B1	HGNC	E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN	.	UPI000013DF8A	SNV	SLCO2B1,synonymous_variant,p.%3D,ENST00000454962,;SLCO2B1,synonymous_variant,p.%3D,ENST00000531756,;SLCO2B1,synonymous_variant,p.%3D,ENST00000341411,;SLCO2B1,synonymous_variant,p.%3D,ENST00000289575,;SLCO2B1,synonymous_variant,p.%3D,ENST00000532236,;SLCO2B1,synonymous_variant,p.%3D,ENST00000525650,;SLCO2B1,synonymous_variant,p.%3D,ENST00000428359,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530015,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530012,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000528108,;	2012	19	34	SUCCESS
TCTN2	79867	.	GRCh37	12	124189231	124189231	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	58	0	ENST00000303372.5:c.1765A>G	p.Thr589Ala	p.T589A	ENST00000303372	NM_024809.4	589	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS9253.1	1765	RADIA|VARSCANS	.	TAGAGACAAGG	NONE	.	.	hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF3	.	.	ENSP00000304941	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000303372	Transcript	.	.	ENSG00000168778	25774	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.37)	.	TECT2_HUMAN	TCTN2	HGNC	.	.	UPI0000038A56	SNV	TCTN2,missense_variant,p.Thr589Ala,ENST00000303372,;TCTN2,missense_variant,p.Thr588Ala,ENST00000426174,;RP11-338K17.8,downstream_gene_variant,,ENST00000538837,;TCTN2,non_coding_transcript_exon_variant,,ENST00000543998,;	1893	58	30	SUCCESS
DNAH10	196385	.	GRCh37	12	124257438	124257438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	49	0	ENST00000409039.3:c.271C>T	p.Pro91Ser	p.P91S	ENST00000409039	NM_207437.3	91	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9255.2	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCCCGAG	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	4/78	.	.	.	.	.	.	.	.	.	4/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Pro91Ser,ENST00000409039,;	296	49	55	SUCCESS
DNAH10	196385	.	GRCh37	12	124257449	124257449	+	synonymous_variant	Silent	SNP	C	C	T	rs890113575	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	29	51	0	ENST00000409039.3:c.282C>T	p.Phe94=	p.F94=	ENST00000409039	NM_207437.3	94	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS9255.2	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCCTGGA	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676	.	.	ENSP00000386770	.	4/78	.	.	.	.	.	.	.	.	.	4/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;	307	51	53	SUCCESS
TMEM132B	114795	.	GRCh37	12	126135429	126135429	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	42	0	ENST00000299308.3:c.1829A>G	p.Glu610Gly	p.E610G	ENST00000299308	NM_052907.2	610	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS41859.1	1829	RADIA|VARSCANS	.	GGAGGAGCCGA	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.904)	.	deleterious(0.05)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Glu122Gly,ENST00000535886,;TMEM132B,missense_variant,p.Glu610Gly,ENST00000299308,;	1837	42	29	SUCCESS
CCDC91	55297	.	GRCh37	12	28637055	28637055	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	67	0	ENST00000381259.1:c.1172G>T	p.Arg391Ile	p.R391I	ENST00000381259	NM_018318.3	391	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS8716.1	1172	RADIA|VARSCANS	.	GAAAAGAACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000438040	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000545336	Transcript	.	.	ENSG00000123106	24855	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.655)	.	deleterious(0)	.	CCD91_HUMAN	CCDC91	HGNC	F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN	.	UPI00001AEE23	SNV	CCDC91,missense_variant,p.Arg355Ile,ENST00000381256,;CCDC91,missense_variant,p.Arg391Ile,ENST00000545336,;CCDC91,missense_variant,p.Arg361Ile,ENST00000306172,;CCDC91,missense_variant,p.Arg355Ile,ENST00000539107,;CCDC91,missense_variant,p.Arg62Ile,ENST00000542801,;CCDC91,missense_variant,p.Arg391Ile,ENST00000381259,;CCDC91,missense_variant,p.Arg90Ile,ENST00000535212,;CCDC91,downstream_gene_variant,,ENST00000536154,;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;CCDC91,3_prime_UTR_variant,,ENST00000543809,;	1591	67	36	SUCCESS
NRIP2	83714	.	GRCh37	12	2944113	2944113	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	76	0	ENST00000337508.4:c.37C>T	p.Pro13Ser	p.P13S	ENST00000337508	NM_031474.2	13	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS8514.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGTCTCC	NONE	.	.	hmmpanther:PTHR12917:SF3,hmmpanther:PTHR12917	.	.	ENSP00000337501	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000337508	Transcript	.	.	ENSG00000053702	23078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.11)	.	NRIP2_HUMAN	NRIP2	HGNC	F5H2G5_HUMAN,F5H065_HUMAN,A2RRE3_HUMAN	.	UPI000006E2A1	SNV	NRIP2,missense_variant,p.Pro13Ser,ENST00000337508,;NRIP2,splice_region_variant,,ENST00000542386,;NRIP2,intron_variant,,ENST00000542990,;ITFG2,downstream_gene_variant,,ENST00000542548,;ITFG2,intron_variant,,ENST00000552005,;ITFG2,upstream_gene_variant,,ENST00000537710,;ITFG2,downstream_gene_variant,,ENST00000538822,;ITFG2,downstream_gene_variant,,ENST00000540929,;	78	76	56	SUCCESS
PTPN6	5777	.	GRCh37	12	7064833	7064833	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	53	0	ENST00000318974.9:c.758A>G	p.Lys253Arg	p.K253R	ENST00000318974	NM_002831.5	253	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44821.1	758	RADIA|MUTECT|VARSCANS	.	GCAGAAGCAGG	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF65,hmmpanther:PTHR19134,Gene3D:3.90.190.10,PIRSF_domain:PIRSF000929,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000391592	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000456013	Transcript	.	.	ENSG00000111679	9658	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	deleterious(0.01)	.	PTN6_HUMAN	PTPN6	HGNC	F5H0N8_HUMAN	.	UPI000014049A	SNV	PTPN6,missense_variant,p.Lys253Arg,ENST00000456013,;PTPN6,missense_variant,p.Lys214Arg,ENST00000447931,;PTPN6,missense_variant,p.Lys253Arg,ENST00000318974,;PTPN6,missense_variant,p.Lys255Arg,ENST00000399448,;PTPN6,downstream_gene_variant,,ENST00000538715,;PTPN6,downstream_gene_variant,,ENST00000542462,;PTPN6,downstream_gene_variant,,ENST00000541698,;PTPN6,downstream_gene_variant,,ENST00000543115,;PTPN6,downstream_gene_variant,,ENST00000534900,;PTPN6,downstream_gene_variant,,ENST00000543120,;PTPN6,downstream_gene_variant,,ENST00000542277,;PTPN6,upstream_gene_variant,,ENST00000537533,;PTPN6,downstream_gene_variant,,ENST00000540740,;PTPN6,upstream_gene_variant,,ENST00000539029,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,downstream_gene_variant,,ENST00000535462,;PTPN6,upstream_gene_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,downstream_gene_variant,,ENST00000543744,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000536013,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000536521,;	1000	53	46	SUCCESS
COL4A2	1284	.	GRCh37	13	111082761	111082761	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	104	0	ENST00000360467.5:c.563A>G	p.Glu188Gly	p.E188G	ENST00000360467	NM_001846.2	188	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS41907.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGAGCCTG	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	.	.	ENSP00000353654	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,missense_variant,p.Glu188Gly,ENST00000360467,;COL4A2,non_coding_transcript_exon_variant,,ENST00000462309,;	869	104	66	SUCCESS
BRCA2	675	.	GRCh37	13	32931936	32931936	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	57	0	ENST00000380152.3:c.7675T>C	p.Ser2559Pro	p.S2559P	ENST00000380152		2559	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS9344.1	7675	RADIA|VARSCANS	.	CAGAGTCTTTT	NONE	.	.	hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,Pfam_domain:PF09169,PIRSF_domain:PIRSF002397,Superfamily_domains:SSF81872	.	.	ENSP00000439902	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.Ser2559Pro,ENST00000544455,;BRCA2,missense_variant,p.Ser2559Pro,ENST00000380152,;	7902	58	33	SUCCESS
NBEA	26960	.	GRCh37	13	36229035	36229036	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	59	0	ENST00000400445.3:c.8016_8017insC	p.Asp2673ArgfsTer17	p.D2673Rfs*17	ENST00000400445	NM_015678.4	2672	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS45026.1	8016-8017	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCGTTGACCA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.130.10.10,SMART_domains:SM00320	.	.	ENSP00000383295	.	53/58	.	.	.	.	.	.	.	.	.	53/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	insertion	NBEA,frameshift_variant,p.Asp251ArgfsTer17,ENST00000379922,;NBEA,frameshift_variant,p.Asp2673ArgfsTer17,ENST00000400445,;NBEA,frameshift_variant,p.Asp2673ArgfsTer17,ENST00000540320,;NBEA,frameshift_variant,p.Asp2673ArgfsTer17,ENST00000310336,;NBEA,frameshift_variant,p.Asp466ArgfsTer17,ENST00000537702,;NBEA,frameshift_variant,p.Asp2670ArgfsTer17,ENST00000379939,;	8550-8551	59	74	SUCCESS
FREM2	341640	.	GRCh37	13	39265055	39265055	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	43	125	0	ENST00000280481.7:c.3574G>T	p.Glu1192Ter	p.E1192*	ENST00000280481	NM_207361.4	1192	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31960.1	3574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGAGATG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,stop_gained,p.Glu1192Ter,ENST00000280481,;	3790	125	54	SUCCESS
LCP1	3936	.	GRCh37	13	46725197	46725197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	37	0	ENST00000323076.2:c.756G>T	p.Leu252Phe	p.L252F	ENST00000323076	NM_002298.4	252	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS9403.1	756	RADIA|VARSCANS	.	TCTCTCAAAAG	NONE	.	.	hmmpanther:PTHR19961:SF34,hmmpanther:PTHR19961,Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000381581	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000398576	Transcript	.	.	ENSG00000136167	6528	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	PLSL_HUMAN	LCP1	HGNC	Q5TBN5_HUMAN,Q5TBN3_HUMAN	.	UPI0000070B5C	SNV	LCP1,missense_variant,p.Leu252Phe,ENST00000323076,;LCP1,missense_variant,p.Leu252Phe,ENST00000398576,;LCP1,downstream_gene_variant,,ENST00000416500,;LCP1,non_coding_transcript_exon_variant,,ENST00000494531,;LCP1,non_coding_transcript_exon_variant,,ENST00000469227,;	1145	37	29	SUCCESS
ARL11	115761	.	GRCh37	13	50205138	50205138	+	synonymous_variant	Silent	SNP	C	C	T	rs769272757	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	88	0	ENST00000282026.1:c.555C>T	p.Ala185=	p.A185=	ENST00000282026	NM_138450.5	185	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9419.1	555	RADIA|VARSCANS	.	AGAGCCCATGG	NONE	byFrequency	.	.	.	.	ENSP00000282026	.	2/2	.	.	.	.	.	.	.	.	rs769272757	2/2	PASS	ENST00000282026	Transcript	.	.	ENSG00000152213	24046	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARL11_HUMAN	ARL11	HGNC	.	.	UPI0000073EDE	SNV	ARL11,synonymous_variant,p.%3D,ENST00000282026,;ARL11,intron_variant,,ENST00000490932,;	890	88	34	SUCCESS
DACH1	1602	.	GRCh37	13	72440929	72440929	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	79	0	ENST00000305425.4:c.-22C>A		p.*8*	ENST00000305425	NM_080759.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41899.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAACAGACGGA	NONE	.	.	.	.	.	ENSP00000304994	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,5_prime_UTR_variant,,ENST00000305425,;DACH1,5_prime_UTR_variant,,ENST00000313174,;DACH1,5_prime_UTR_variant,,ENST00000354591,;DACH1,upstream_gene_variant,,ENST00000359684,;	402	79	41	SUCCESS
INF2	64423	.	GRCh37	14	105175662	105175662	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1279137766	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	30	0	ENST00000392634.4:c.1994C>T	p.Thr665Ile	p.T665I	ENST00000392634	NM_022489.3	665	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS9989.2	1994	RADIA|VARSCANS	.	TACCACCAAGT	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000376410	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000392634	Transcript	1	.	ENSG00000203485	23791	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.01)	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,missense_variant,p.Thr133Ile,ENST00000252527,;INF2,missense_variant,p.Thr665Ile,ENST00000330634,;INF2,missense_variant,p.Thr665Ile,ENST00000392634,;INF2,downstream_gene_variant,,ENST00000398337,;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000477497,;INF2,upstream_gene_variant,,ENST00000480763,;	2106	30	23	SUCCESS
NFATC4	4776	.	GRCh37	14	24844908	24844908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	83	0	ENST00000250373.4:c.1916T>A	p.Leu639Gln	p.L639Q	ENST00000250373	NM_004554.4	639	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS45089.1	2105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGACTGCAGA	NONE	.	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000388910	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	tolerated(0.26)	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,missense_variant,p.Leu639Gln,ENST00000554050,;NFATC4,missense_variant,p.Leu627Gln,ENST00000422617,;NFATC4,missense_variant,p.Leu639Gln,ENST00000250373,;NFATC4,missense_variant,p.Leu174Gln,ENST00000554473,;NFATC4,missense_variant,p.Leu652Gln,ENST00000555590,;NFATC4,missense_variant,p.Leu627Gln,ENST00000556169,;NFATC4,missense_variant,p.Leu671Gln,ENST00000553469,;NFATC4,missense_variant,p.Leu671Gln,ENST00000539237,;NFATC4,missense_variant,p.Leu569Gln,ENST00000554661,;NFATC4,missense_variant,p.Leu174Gln,ENST00000555167,;NFATC4,missense_variant,p.Leu627Gln,ENST00000555453,;NFATC4,missense_variant,p.Leu639Gln,ENST00000553708,;NFATC4,missense_variant,p.Leu569Gln,ENST00000557451,;NFATC4,missense_variant,p.Leu702Gln,ENST00000413692,;NFATC4,missense_variant,p.Leu671Gln,ENST00000556279,;NFATC4,missense_variant,p.Leu569Gln,ENST00000553879,;NFATC4,missense_variant,p.Leu652Gln,ENST00000424781,;NFATC4,missense_variant,p.Leu702Gln,ENST00000554591,;NFATC4,missense_variant,p.Leu174Gln,ENST00000556759,;NFATC4,missense_variant,p.Leu652Gln,ENST00000554966,;NFATC4,missense_variant,p.Leu569Gln,ENST00000554344,;NFATC4,5_prime_UTR_variant,,ENST00000557767,;NFATC4,5_prime_UTR_variant,,ENST00000555802,;NFATC4,5_prime_UTR_variant,,ENST00000555393,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,upstream_gene_variant,,ENST00000555821,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,downstream_gene_variant,,ENST00000557028,;NFATC4,downstream_gene_variant,,ENST00000556957,;	2249	83	46	SUCCESS
TMEM260	54916	.	GRCh37	14	57088308	57088308	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	44	0	ENST00000261556.6:c.1286C>G	p.Ser429Cys	p.S429C	ENST00000261556	NM_017799.3	429	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS9727.2	1286	RADIA|VARSCANS	.	CACCTCTATGC	NONE	.	.	hmmpanther:PTHR16214	.	.	ENSP00000261556	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000261556	Transcript	.	.	ENSG00000070269	20185	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TM260_HUMAN	TMEM260	HGNC	G3V4Y3_HUMAN,B3KN73_HUMAN	.	UPI00001FD5D2	SNV	TMEM260,missense_variant,p.Ser429Cys,ENST00000261556,;TMEM260,intron_variant,,ENST00000538838,;TMEM260,intron_variant,,ENST00000536419,;TMEM260,downstream_gene_variant,,ENST00000553335,;TMEM260,3_prime_UTR_variant,,ENST00000539559,;TMEM260,intron_variant,,ENST00000556422,;TMEM260,intron_variant,,ENST00000555905,;TMEM260,intron_variant,,ENST00000555497,;TMEM260,intron_variant,,ENST00000556648,;TMEM260,downstream_gene_variant,,ENST00000556929,;	1408	44	20	SUCCESS
SPATA7	55812	.	GRCh37	14	88852147	88852147	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	30	0	ENST00000393545.4:c.-16T>C		p.*6*	ENST00000393545	NM_018418.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9883.1	.	SOMATICSNIPER|RADIA|MUTECT	.	GCGGCTGCAAG	NONE	.	.	.	.	.	ENSP00000377176	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000393545	Transcript	.	.	ENSG00000042317	20423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPAT7_HUMAN	SPATA7	HGNC	.	.	UPI00000712C7	SNV	SPATA7,5_prime_UTR_variant,,ENST00000555401,;SPATA7,5_prime_UTR_variant,,ENST00000356583,;SPATA7,5_prime_UTR_variant,,ENST00000393545,;SPATA7,5_prime_UTR_variant,,ENST00000553885,;SPATA7,5_prime_UTR_variant,,ENST00000556553,;SPATA7,upstream_gene_variant,,ENST00000045347,;SPATA7,non_coding_transcript_exon_variant,,ENST00000554102,;SPATA7,5_prime_UTR_variant,,ENST00000553908,;SPATA7,5_prime_UTR_variant,,ENST00000555715,;SPATA7,5_prime_UTR_variant,,ENST00000557248,;SPATA7,5_prime_UTR_variant,,ENST00000555356,;SPATA7,5_prime_UTR_variant,,ENST00000556870,;SPATA7,5_prime_UTR_variant,,ENST00000557724,;SPATA7,5_prime_UTR_variant,,ENST00000554168,;SPATA7,5_prime_UTR_variant,,ENST00000555515,;SPATA7,5_prime_UTR_variant,,ENST00000555534,;SPATA7,non_coding_transcript_exon_variant,,ENST00000553626,;SPATA7,non_coding_transcript_exon_variant,,ENST00000557567,;	274	30	13	SUCCESS
MYO1E	4643	.	GRCh37	15	59470655	59470655	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	45	0	ENST00000288235.4:c.1986C>A	p.Val662=	p.V662=	ENST00000288235	NM_004998.3	662	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32254.1	1986	RADIA|VARSCANS	.	ATGTTGACCGA	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000288235	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,synonymous_variant,p.%3D,ENST00000560749,;MYO1E,synonymous_variant,p.%3D,ENST00000288235,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,non_coding_transcript_exon_variant,,ENST00000558182,;	2386	45	40	SUCCESS
ADAMTSL3	57188	.	GRCh37	15	84651559	84651559	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	56	0	ENST00000286744.5:c.3179T>C	p.Leu1060Ser	p.L1060S	ENST00000286744	NM_207517.2	1060	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS10326.1	3179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTTAGGCC	NONE	.	.	hmmpanther:PTHR13723:SF169,hmmpanther:PTHR13723	.	.	ENSP00000286744	.	21/30	.	.	.	.	.	.	.	.	.	21/30	PASS	ENST00000286744	Transcript	.	.	ENSG00000156218	14633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.36)	.	ATL3_HUMAN	ADAMTSL3	HGNC	.	.	UPI00001615A5	SNV	ADAMTSL3,missense_variant,p.Leu1060Ser,ENST00000286744,;ADAMTSL3,missense_variant,p.Leu1060Ser,ENST00000567476,;ADAMTSL3,downstream_gene_variant,,ENST00000562296,;ADAMTSL3,downstream_gene_variant,,ENST00000567716,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	3403	56	41	SUCCESS
MIR1276	100302121	.	GRCh37	15	86313785	86313785	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	38	0	ENST00000408707.1:n.25G>A		p.*9*	ENST00000408707				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10339.1	.	RADIA|VARSCANS	.	GTCTCCACAGG	NONE	.	.	.	.	.	ENSP00000336800	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337975	Transcript	.	.	ENSG00000183655	25732	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLH25_HUMAN	KLHL25	HGNC	.	.	UPI0000037CB1	SNV	KLHL25,intron_variant,,ENST00000536947,;KLHL25,intron_variant,,ENST00000337975,;MIR1276,mature_miRNA_variant,,ENST00000408707,;KLHL25,intron_variant,,ENST00000559131,;RP11-158M2.6,upstream_gene_variant,,ENST00000559631,;	.	38	36	SUCCESS
RHCG	51458	.	GRCh37	15	90023512	90023512	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs749575034	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	37	0	ENST00000268122.4:c.650C>A	p.Ser217Ter	p.S217*	ENST00000268122	NM_016321.1	217	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS10351.1	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGACTGG	NONE	byFrequency	.	Superfamily_domains:0044218,Pfam_domain:PF00909,Gene3D:1.10.3430.10,hmmpanther:PTHR11883:SF12,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix	.	.	ENSP00000268122	.	4/11	.	.	.	.	.	.	.	.	rs749575034	4/11	PASS	ENST00000268122	Transcript	.	.	ENSG00000140519	18140	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHCG_HUMAN	RHCG	HGNC	.	.	UPI00000343FD	SNV	RHCG,stop_gained,p.Ser217Ter,ENST00000268122,;RHCG,stop_gained,p.Ser217Ter,ENST00000544600,;RHCG,upstream_gene_variant,,ENST00000558360,;RHCG,stop_gained,p.Ser217Ter,ENST00000560081,;RHCG,3_prime_UTR_variant,,ENST00000558184,;RHCG,intron_variant,,ENST00000558030,;RHCG,upstream_gene_variant,,ENST00000559638,;	719	37	41	SUCCESS
IQGAP1	8826	.	GRCh37	15	91020941	91020941	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1388244542	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	54	0	ENST00000268182.5:c.3149C>T	p.Thr1050Met	p.T1050M	ENST00000268182	NM_003870.3	1050	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS10362.1	3149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTACGGTTA	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00323,Pfam_domain:PF00616,Gene3D:1.10.506.10,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15,PROSITE_profiles:PS50018	.	.	ENSP00000268182	.	26/38	.	.	.	.	.	.	.	.	.	26/38	PASS	ENST00000268182	Transcript	.	.	ENSG00000140575	6110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0.04)	.	IQGA1_HUMAN	IQGAP1	HGNC	H0YKA5_HUMAN	.	UPI000012D863	SNV	IQGAP1,missense_variant,p.Thr478Met,ENST00000560738,;IQGAP1,missense_variant,p.Thr1050Met,ENST00000268182,;IQGAP1,downstream_gene_variant,,ENST00000560020,;IQGAP1,downstream_gene_variant,,ENST00000560733,;IQGAP1,downstream_gene_variant,,ENST00000560373,;IQGAP1,downstream_gene_variant,,ENST00000558003,;	3273	54	60	SUCCESS
TMC7	79905	.	GRCh37	16	19049310	19049310	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	74	155	0	ENST00000304381.5:c.1120G>T	p.Gly374Trp	p.G374W	ENST00000304381	NM_024847.3	374	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS10573.1	1120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGGGGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF9	.	.	ENSP00000304710	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000304381	Transcript	.	.	ENSG00000170537	23000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.541)	.	deleterious(0.01)	.	TMC7_HUMAN	TMC7	HGNC	E7ERB6_HUMAN	.	UPI00001AEDAD	SNV	TMC7,missense_variant,p.Gly374Trp,ENST00000569532,;TMC7,missense_variant,p.Gly264Trp,ENST00000421369,;TMC7,missense_variant,p.Gly374Trp,ENST00000304381,;TMC7,non_coding_transcript_exon_variant,,ENST00000561963,;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	1250	155	143	SUCCESS
FUS	2521	.	GRCh37	16	31193931	31193931	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	81	0	ENST00000254108.7:c.136G>C	p.Asp46His	p.D46H	ENST00000254108	NM_004960.3	46	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS10707.1	136	MUTECT|VARSCANS	.	CCACGGACACT	BUFFER|p.G49G|c.147C>A|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF5,hmmpanther:PTHR23238	.	.	ENSP00000254108	.	3/15	.	.	.	.	.	.	.	.	COSM471667	3/15	PASS	ENST00000254108	Transcript	.	.	ENSG00000089280	4010	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	deleterious(0.01)	1	FUS_HUMAN	FUS	HGNC	Q6IBQ5_HUMAN	.	UPI000012AD9A	SNV	FUS,missense_variant,p.Asp46His,ENST00000380244,;FUS,missense_variant,p.Asp46His,ENST00000254108,;FUS,missense_variant,p.Asp46His,ENST00000568685,;RP11-388M20.6,non_coding_transcript_exon_variant,,ENST00000564743,;FUS,upstream_gene_variant,,ENST00000474990,;FUS,missense_variant,p.Asp46His,ENST00000566605,;FUS,non_coding_transcript_exon_variant,,ENST00000487509,;FUS,non_coding_transcript_exon_variant,,ENST00000487045,;FUS,upstream_gene_variant,,ENST00000570090,;FUS,upstream_gene_variant,,ENST00000487974,;	241	81	73	SUCCESS
CNOT1	23019	.	GRCh37	16	58568277	58568277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	18	0	ENST00000317147.5:c.5669A>G	p.Lys1890Arg	p.K1890R	ENST00000317147	NM_016284.4	1890	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10799.1	5669	RADIA|VARSCANS	.	CGGTCTTCAGT	NONE	.	.	hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162	.	.	ENSP00000320949	.	40/49	.	.	.	.	.	.	.	.	.	40/49	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.127)	.	tolerated(0.12)	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	SNV	CNOT1,missense_variant,p.Lys1890Arg,ENST00000317147,;CNOT1,missense_variant,p.Lys1885Arg,ENST00000569240,;CNOT1,missense_variant,p.Lys270Arg,ENST00000568917,;CNOT1,missense_variant,p.Lys741Arg,ENST00000245138,;CNOT1,missense_variant,p.Lys1885Arg,ENST00000567188,;CNOT1,upstream_gene_variant,,ENST00000570139,;CNOT1,downstream_gene_variant,,ENST00000563283,;CNOT1,upstream_gene_variant,,ENST00000563130,;	6002	18	20	SUCCESS
SLC7A5	8140	.	GRCh37	16	87868106	87868106	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	65	0	ENST00000261622.4:c.1382G>T	p.Gly461Val	p.G461V	ENST00000261622	NM_003486.5	461	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10964.1	1382	RADIA|VARSCANS	.	TGAAGCCGATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF232,TIGRFAM_domain:TIGR00911,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000261622	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000261622	Transcript	.	.	ENSG00000103257	11063	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LAT1_HUMAN	SLC7A5	HGNC	.	.	UPI000000D9ED	SNV	SLC7A5,missense_variant,p.Gly461Val,ENST00000261622,;SLC7A5,missense_variant,p.Gly195Val,ENST00000565644,;RP4-536B24.2,upstream_gene_variant,,ENST00000563687,;SLC7A5,non_coding_transcript_exon_variant,,ENST00000563489,;	1448	65	37	SUCCESS
CBFA2T3	863	.	GRCh37	16	88949122	88949122	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	34	0	ENST00000268679.4:c.1165G>A	p.Glu389Lys	p.E389K	ENST00000268679	NM_005187.5	389	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10972.1	1165	RADIA|VARSCANS	.	ACGCTCTGTGA	NONE	.	.	hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6,Pfam_domain:PF08788	.	.	ENSP00000268679	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000268679	Transcript	.	.	ENSG00000129993	1537	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.507)	.	deleterious(0.02)	.	MTG16_HUMAN	CBFA2T3	HGNC	H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN	.	UPI0000167F93	SNV	CBFA2T3,missense_variant,p.Glu328Lys,ENST00000569464,;CBFA2T3,missense_variant,p.Glu303Lys,ENST00000360302,;CBFA2T3,missense_variant,p.Glu351Lys,ENST00000436887,;CBFA2T3,missense_variant,p.Glu303Lys,ENST00000327483,;CBFA2T3,missense_variant,p.Glu389Lys,ENST00000268679,;CBFA2T3,missense_variant,p.Glu313Lys,ENST00000448839,;RP11-830F9.5,intron_variant,,ENST00000569249,;RP11-830F9.5,intron_variant,,ENST00000562574,;RP11-830F9.5,intron_variant,,ENST00000562405,;RP11-830F9.5,upstream_gene_variant,,ENST00000565053,;CBFA2T3,upstream_gene_variant,,ENST00000563856,;CBFA2T3,upstream_gene_variant,,ENST00000563920,;CBFA2T3,upstream_gene_variant,,ENST00000566868,;	1562	34	27	SUCCESS
KSR1	8844	.	GRCh37	17	25944438	25944438	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	17	0	ENST00000398988.3:c.2266T>C	p.Phe756Leu	p.F756L	ENST00000398988	NM_014238.1	756	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS58532.1	2266	RADIA|MUTECT|VARSCANS	.	GACACTTCTGG	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413	.	.	ENSP00000381958	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000398988	Transcript	.	.	ENSG00000141068	6465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.913)	.	tolerated(0.27)	.	.	KSR1	HGNC	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN	.	UPI00005B2F0C	SNV	KSR1,missense_variant,p.Phe109Leu,ENST00000580430,;KSR1,missense_variant,p.Phe756Leu,ENST00000398988,;KSR1,missense_variant,p.Phe756Leu,ENST00000268763,;KSR1,missense_variant,p.Phe107Leu,ENST00000582410,;KSR1,missense_variant,p.Phe606Leu,ENST00000398982,;KSR1,missense_variant,p.Phe871Leu,ENST00000509603,;KSR1,missense_variant,p.Phe893Leu,ENST00000319524,;KSR1,upstream_gene_variant,,ENST00000578981,;KSR1,non_coding_transcript_exon_variant,,ENST00000583998,;ITM2BP1,upstream_gene_variant,,ENST00000580276,;	2711	17	19	SUCCESS
C17orf75	64149	.	GRCh37	17	30666909	30666909	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	39	0	ENST00000577809.1:c.270G>A	p.Leu90=	p.L90=	ENST00000577809	NM_022344.3	90	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58537.1	270	RADIA|VARSCANS	.	CTGCGCAGCTC	NONE	.	.	hmmpanther:PTHR14416,Pfam_domain:PF15053	.	.	ENSP00000464275	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000577809	Transcript	.	.	ENSG00000108666	30173	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NJMU_HUMAN	C17orf75	HGNC	Q8NI83_HUMAN,K7ERX0_HUMAN,K7EIQ2_HUMAN,K7EII1_HUMAN,J3KRR1_HUMAN	.	UPI00001AE577	SNV	C17orf75,synonymous_variant,p.%3D,ENST00000577809,;C17orf75,synonymous_variant,p.%3D,ENST00000225805,;C17orf75,synonymous_variant,p.%3D,ENST00000583774,;C17orf75,5_prime_UTR_variant,,ENST00000580558,;C17orf75,5_prime_UTR_variant,,ENST00000583334,;C17orf75,5_prime_UTR_variant,,ENST00000581747,;C17orf75,upstream_gene_variant,,ENST00000583104,;RP11-227G15.3,intron_variant,,ENST00000578389,;RP11-227G15.3,intron_variant,,ENST00000581915,;C17orf75,3_prime_UTR_variant,,ENST00000583221,;C17orf75,non_coding_transcript_exon_variant,,ENST00000582073,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580485,;C17orf75,upstream_gene_variant,,ENST00000578215,;C17orf75,downstream_gene_variant,,ENST00000580294,;OOSP1P2,downstream_gene_variant,,ENST00000579644,;	320	39	28	SUCCESS
ACADVL	37	.	GRCh37	17	7124266	7124266	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	47	0	ENST00000356839.5:c.366T>C	p.Asn122=	p.N122=	ENST00000356839	NM_001270448.1	122	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS58509.1	435	RADIA|MUTECT|VARSCANS	.	AAGAATGACGC	NONE	.	.	Superfamily_domains:SSF56645,Gene3D:1.10.540.10,Pfam_domain:PF02771,hmmpanther:PTHR10909:SF121,hmmpanther:PTHR10909	.	.	ENSP00000438689	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000543245	Transcript	.	.	ENSG00000072778	92	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACADV_HUMAN	ACADVL	HGNC	B3KPA6_HUMAN	.	UPI0002064F84	SNV	ACADVL,synonymous_variant,p.%3D,ENST00000584103,;ACADVL,synonymous_variant,p.%3D,ENST00000356839,;ACADVL,synonymous_variant,p.%3D,ENST00000543245,;ACADVL,synonymous_variant,p.%3D,ENST00000350303,;ACADVL,synonymous_variant,p.%3D,ENST00000583312,;ACADVL,synonymous_variant,p.%3D,ENST00000579886,;DLG4,upstream_gene_variant,,ENST00000399510,;ACADVL,upstream_gene_variant,,ENST00000542255,;DVL2,downstream_gene_variant,,ENST00000575458,;ACADVL,upstream_gene_variant,,ENST00000579546,;DLG4,upstream_gene_variant,,ENST00000485100,;DLG4,upstream_gene_variant,,ENST00000399506,;DLG4,upstream_gene_variant,,ENST00000447163,;DLG4,upstream_gene_variant,,ENST00000302955,;DVL2,downstream_gene_variant,,ENST00000005340,;MIR324,downstream_gene_variant,,ENST00000362183,;ACADVL,non_coding_transcript_exon_variant,,ENST00000581562,;ACADVL,intron_variant,,ENST00000577857,;ACADVL,upstream_gene_variant,,ENST00000583074,;ACADVL,synonymous_variant,p.%3D,ENST00000581378,;ACADVL,3_prime_UTR_variant,,ENST00000322910,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579286,;ACADVL,non_coding_transcript_exon_variant,,ENST00000577191,;ACADVL,non_coding_transcript_exon_variant,,ENST00000577433,;ACADVL,non_coding_transcript_exon_variant,,ENST00000582166,;ACADVL,non_coding_transcript_exon_variant,,ENST00000580365,;ACADVL,non_coding_transcript_exon_variant,,ENST00000582056,;ACADVL,upstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000578421,;ACADVL,upstream_gene_variant,,ENST00000579391,;ACADVL,upstream_gene_variant,,ENST00000582379,;ACADVL,downstream_gene_variant,,ENST00000580263,;ACADVL,upstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000578269,;ACADVL,upstream_gene_variant,,ENST00000585203,;ACADVL,upstream_gene_variant,,ENST00000578711,;ACADVL,downstream_gene_variant,,ENST00000582356,;ACADVL,upstream_gene_variant,,ENST00000582450,;ACADVL,upstream_gene_variant,,ENST00000578319,;ACADVL,upstream_gene_variant,,ENST00000578809,;ACADVL,upstream_gene_variant,,ENST00000583760,;ACADVL,upstream_gene_variant,,ENST00000578824,;ACADVL,upstream_gene_variant,,ENST00000579425,;ACADVL,upstream_gene_variant,,ENST00000583858,;ACADVL,upstream_gene_variant,,ENST00000583850,;ACADVL,upstream_gene_variant,,ENST00000579894,;ACADVL,upstream_gene_variant,,ENST00000578579,;	456	47	36	SUCCESS
NEURL4	84461	.	GRCh37	17	7221959	7221959	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1477982297	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	44	0	ENST00000399464.2:c.3719G>A	p.Cys1240Tyr	p.C1240Y	ENST00000399464	NM_032442.2	1240	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS42251.1	3719	RADIA|VARSCANS	.	CAGGGCACGTG	NONE	.	.	PROSITE_profiles:PS51065,hmmpanther:PTHR12429:SF2,hmmpanther:PTHR12429,SMART_domains:SM00588	.	.	ENSP00000382390	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000399464	Transcript	.	.	ENSG00000215041	34410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.254)	.	deleterious(0.01)	.	NEUL4_HUMAN	NEURL4	HGNC	.	.	UPI000020081C	SNV	NEURL4,missense_variant,p.Cys1216Tyr,ENST00000570460,;NEURL4,missense_variant,p.Cys1203Tyr,ENST00000571887,;NEURL4,missense_variant,p.Cys1238Tyr,ENST00000315614,;NEURL4,missense_variant,p.Cys1240Tyr,ENST00000399464,;GPS2,upstream_gene_variant,,ENST00000573684,;GPS2,upstream_gene_variant,,ENST00000380728,;GPS2,upstream_gene_variant,,ENST00000570780,;GPS2,upstream_gene_variant,,ENST00000577040,;GPS2,upstream_gene_variant,,ENST00000391950,;GPS2,upstream_gene_variant,,ENST00000389167,;NEURL4,non_coding_transcript_exon_variant,,ENST00000574120,;RP11-542C16.2,missense_variant,p.Cys21Tyr,ENST00000315601,;NEURL4,missense_variant,p.Ala991Thr,ENST00000573186,;RP11-542C16.2,missense_variant,p.Cys54Tyr,ENST00000575474,;NEURL4,non_coding_transcript_exon_variant,,ENST00000572029,;NEURL4,downstream_gene_variant,,ENST00000576485,;GPS2,upstream_gene_variant,,ENST00000571569,;GPS2,upstream_gene_variant,,ENST00000571697,;GPS2,upstream_gene_variant,,ENST00000571695,;GPS2,upstream_gene_variant,,ENST00000573059,;NEURL4,downstream_gene_variant,,ENST00000573651,;NEURL4,upstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000571508,;NEURL4,upstream_gene_variant,,ENST00000576794,;GPS2,upstream_gene_variant,,ENST00000572172,;GPS2,upstream_gene_variant,,ENST00000572707,;GPS2,upstream_gene_variant,,ENST00000573807,;GPS2,upstream_gene_variant,,ENST00000571098,;GPS2,upstream_gene_variant,,ENST00000572363,;GPS2,upstream_gene_variant,,ENST00000574201,;	3735	44	36	SUCCESS
WBP2	23558	.	GRCh37	17	73851333	73851333	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	89	71	0	ENST00000254806.3:c.46A>G	p.Asn16Asp	p.N16D	ENST00000254806	NM_012478.3	16	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS11731.1	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTATTGACGA	NONE	.	.	hmmpanther:PTHR31606:SF4,hmmpanther:PTHR31606,Pfam_domain:PF02893,Superfamily_domains:SSF50729	.	.	ENSP00000467579	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000591399	Transcript	.	.	ENSG00000132471	12738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.1)	.	WBP2_HUMAN	WBP2	HGNC	K7ESN4_HUMAN,K7EIJ0_HUMAN,A6NG10_HUMAN	.	UPI0000138EBB	SNV	WBP2,missense_variant,p.Asn16Asp,ENST00000433525,;WBP2,missense_variant,p.Asn16Asp,ENST00000590221,;WBP2,missense_variant,p.Asn16Asp,ENST00000591399,;WBP2,missense_variant,p.Asn16Asp,ENST00000254806,;WBP2,5_prime_UTR_variant,,ENST00000587374,;WBP2,5_prime_UTR_variant,,ENST00000585462,;WBP2,5_prime_UTR_variant,,ENST00000344296,;WBP2,upstream_gene_variant,,ENST00000589642,;WBP2,upstream_gene_variant,,ENST00000593002,;WBP2,non_coding_transcript_exon_variant,,ENST00000590450,;WBP2,missense_variant,p.Asn16Asp,ENST00000588373,;WBP2,missense_variant,p.Asn16Asp,ENST00000591831,;WBP2,non_coding_transcript_exon_variant,,ENST00000589241,;WBP2,non_coding_transcript_exon_variant,,ENST00000592802,;WBP2,non_coding_transcript_exon_variant,,ENST00000416574,;WBP2,non_coding_transcript_exon_variant,,ENST00000589834,;WBP2,upstream_gene_variant,,ENST00000587642,;	471	71	96	SUCCESS
MALT1	10892	.	GRCh37	18	56415027	56415027	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	92	0	ENST00000348428.3:c.2428G>A	p.Glu810Lys	p.E810K	ENST00000348428	NM_006785.3	810	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS11967.1	2428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGAAATA	NONE	.	.	hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF20	.	.	ENSP00000319279	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000348428	Transcript	.	.	ENSG00000172175	6819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious_low_confidence(0.01)	.	MALT1_HUMAN	MALT1	HGNC	K7EP42_HUMAN	.	UPI000004D05E	SNV	MALT1,missense_variant,p.Glu799Lys,ENST00000345724,;MALT1,missense_variant,p.Glu810Lys,ENST00000348428,;RP11-108P20.1,upstream_gene_variant,,ENST00000592021,;RP11-108P20.3,downstream_gene_variant,,ENST00000587011,;RP11-126O1.4,intron_variant,,ENST00000588835,;MALT1,non_coding_transcript_exon_variant,,ENST00000589873,;MALT1,downstream_gene_variant,,ENST00000587438,;	2686	92	71	SUCCESS
CDH7	1005	.	GRCh37	18	63525062	63525062	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	35	0	ENST00000323011.3:c.1246G>A	p.Asp416Asn	p.D416N	ENST00000323011	NM_033646.1	416	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS11993.1	1246	RADIA|MUTECT|VARSCANS	.	CAATTGACAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381058	.	8/12	.	.	.	.	.	.	.	.	COSM709090,COSM709091	8/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(0.981)	.	deleterious(0.03)	1,1	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Asp416Asn,ENST00000397968,;CDH7,missense_variant,p.Asp416Asn,ENST00000536984,;CDH7,missense_variant,p.Asp416Asn,ENST00000323011,;	1672	35	17	SUCCESS
LAMA1	284217	.	GRCh37	18	6975955	6975955	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	101	0	ENST00000389658.3:c.6470A>T	p.Tyr2157Phe	p.Y2157F	ENST00000389658	NM_005559.3	2157	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32787.1	6470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGTAGAAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000374309	.	45/63	.	.	.	.	.	.	.	.	.	45/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(0.06)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Tyr2157Phe,ENST00000389658,;RN7SL537P,upstream_gene_variant,,ENST00000584392,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000484335,;	6564	101	76	SUCCESS
CNDP2	55748	.	GRCh37	18	72185845	72185845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	35	0	ENST00000324262.4:c.1180T>A	p.Tyr394Asn	p.Y394N	ENST00000324262	NM_018235.2	394	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS12006.1	1180	MUTECT|MUSE|VARSCANS	.	CTCATTACCTG	NONE	.	.	hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187	.	.	ENSP00000325548	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000324262	Transcript	.	.	ENSG00000133313	24437	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CNDP2_HUMAN	CNDP2	HGNC	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN	.	UPI00000463FE	SNV	CNDP2,missense_variant,p.Tyr394Asn,ENST00000579847,;CNDP2,missense_variant,p.Tyr394Asn,ENST00000324262,;CNDP2,missense_variant,p.Tyr310Asn,ENST00000324301,;CNDP2,intron_variant,,ENST00000579624,;CNDP2,downstream_gene_variant,,ENST00000577669,;CNDP2,downstream_gene_variant,,ENST00000583695,;CNDP2,non_coding_transcript_exon_variant,,ENST00000577409,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,downstream_gene_variant,,ENST00000583938,;CNDP2,downstream_gene_variant,,ENST00000581600,;	1496	35	31	SUCCESS
YES1	7525	.	GRCh37	18	742994	742994	+	synonymous_variant	Silent	SNP	T	T	C	rs1209775122	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	63	175	0	ENST00000314574.4:c.984A>G	p.Arg328=	p.R328=	ENST00000314574	NM_005433.3	328	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS11824.1	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGTCTTAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF90,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000462468	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000584307	Transcript	.	.	ENSG00000176105	12841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YES_HUMAN	YES1	HGNC	.	.	UPI0000062316	SNV	YES1,synonymous_variant,p.%3D,ENST00000314574,;YES1,synonymous_variant,p.%3D,ENST00000584307,;YES1,synonymous_variant,p.%3D,ENST00000577961,;RP11-769O8.2,downstream_gene_variant,,ENST00000579595,;RP11-769O8.3,upstream_gene_variant,,ENST00000581712,;	1155	176	123	SUCCESS
RAB31	11031	.	GRCh37	18	9859227	9859227	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs147665641	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	55	0	ENST00000578921.1:c.493C>A	p.Arg165Ser	p.R165S	ENST00000578921	NM_006868.3	165	Cgc/Agc	0	T:0.0003	T:0.0015	.	T:0	.	A	R/S	protein_coding	YES	CCDS45826.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGCCAG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF331,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	T:0	T:0.0001	ENSP00000461945	T:0	7/7	.	.	.	.	.	.	.	.	rs147665641,COSM1222918	7/7	PASS	ENST00000578921	Transcript	.	T:0.0006	ENSG00000168461	9771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.135)	T:0.001	deleterious(0.01)	0,1	RAB31_HUMAN	RAB31	HGNC	.	.	UPI00000729DB	SNV	RAB31,missense_variant,p.Arg165Ser,ENST00000578921,;RAB31,splice_region_variant,,ENST00000583921,;RAB31,splice_region_variant,,ENST00000580795,;RAB31,splice_region_variant,,ENST00000577284,;RAB31,splice_region_variant,,ENST00000435762,;RAB31,splice_region_variant,,ENST00000581109,;RAB31,splice_region_variant,,ENST00000578734,;	734	55	35	SUCCESS
RASAL3	64926	.	GRCh37	19	15567317	15567317	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	56	0	ENST00000343625.7:c.1572C>A	p.Thr524=	p.T524=	ENST00000343625	NM_022904.1	524	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46006.1	1572	RADIA|VARSCANS	.	CCCAGGGTCTC	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR10194:SF82,hmmpanther:PTHR10194,Gene3D:1.10.506.10,Pfam_domain:PF00616,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000341905	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000343625	Transcript	.	.	ENSG00000105122	26129	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASL3_HUMAN	RASAL3	HGNC	.	.	UPI0000197831	SNV	RASAL3,synonymous_variant,p.%3D,ENST00000599694,;RASAL3,synonymous_variant,p.%3D,ENST00000343625,;RASAL3,upstream_gene_variant,,ENST00000609274,;RASAL3,non_coding_transcript_exon_variant,,ENST00000595098,;RASAL3,downstream_gene_variant,,ENST00000608577,;RASAL3,non_coding_transcript_exon_variant,,ENST00000597025,;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;	1658	56	39	SUCCESS
ATCAY	85300	.	GRCh37	19	3905457	3905457	+	synonymous_variant	Silent	SNP	C	C	T	rs373392142	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	57	0	ENST00000450849.2:c.162C>T	p.Asn54=	p.N54=	ENST00000450849	NM_033064.4	54	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS45923.1	162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACGGAGC	NONE	.	.	hmmpanther:PTHR12112	.	.	ENSP00000390941	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000450849	Transcript	1	.	ENSG00000167654	779	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATCAY_HUMAN	ATCAY	HGNC	M0R197_HUMAN	.	UPI000006DE3B	SNV	ATCAY,synonymous_variant,p.%3D,ENST00000398448,;ATCAY,synonymous_variant,p.%3D,ENST00000598136,;ATCAY,synonymous_variant,p.%3D,ENST00000600960,;ATCAY,synonymous_variant,p.%3D,ENST00000301260,;ATCAY,synonymous_variant,p.%3D,ENST00000450849,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	629	57	41	SUCCESS
MAP2K2	5605	.	GRCh37	19	4097279	4097280	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	GTTCACAA	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	20	0	ENST00000262948.5:c.974_981dup	p.Glu328LeufsTer2	p.E328Lfs*2	ENST00000262948	NM_030662.3	327	-/TTGTGAAC	0	.	.	.	.	.	GTTCACAA	-/L*X	protein_coding	YES	CCDS12120.1	981-982	INDELOCATOR|VARSCANI	.	AACCTCGTTCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262948	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000262948	Transcript	1	.	ENSG00000126934	6842	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MP2K2_HUMAN	MAP2K2	HGNC	G5E9C7_HUMAN,B3KS97_HUMAN	.	UPI000012F489	insertion	MAP2K2,stop_gained,p.Glu231LeufsTer2,ENST00000394867,;MAP2K2,stop_gained,p.Glu328LeufsTer2,ENST00000262948,;MAP2K2,stop_gained,p.Glu32LeufsTer2,ENST00000599021,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000595715,;MAP2K2,intron_variant,,ENST00000597263,;MAP2K2,downstream_gene_variant,,ENST00000593364,;MAP2K2,downstream_gene_variant,,ENST00000599345,;MAP2K2,downstream_gene_variant,,ENST00000602167,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000600584,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000601786,;MAP2K2,downstream_gene_variant,,ENST00000597008,;	1235-1236	20	15	SUCCESS
SPTBN4	57731	.	GRCh37	19	41009905	41009905	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	33	47	0	ENST00000352632.3:c.1531G>C	p.Asp511His	p.D511H	ENST00000352632		511	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS12559.1	1531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTGACAGC	NONE	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000263373	.	12/36	.	.	.	.	.	.	.	.	.	12/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.808)	.	tolerated(0.06)	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Asp511His,ENST00000338932,;SPTBN4,missense_variant,p.Asp511His,ENST00000352632,;SPTBN4,missense_variant,p.Asp511His,ENST00000598249,;SPTBN4,missense_variant,p.Asp511His,ENST00000595535,;SPTBN4,missense_variant,p.Asp511His,ENST00000344104,;SPTBN4,downstream_gene_variant,,ENST00000598775,;	1617	47	52	SUCCESS
PSG3	5671	.	GRCh37	19	43233951	43233951	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	41	0	ENST00000327495.5:c.967C>A	p.Pro323Thr	p.P323T	ENST00000327495	NM_021016.3	323	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12611.1	967	RADIA|VARSCANS	.	GACTGGGTAAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000332215	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000327495	Transcript	.	.	ENSG00000221826	9520	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.895)	.	tolerated(0.83)	.	PSG3_HUMAN	PSG3	HGNC	.	.	UPI0000073DC1	SNV	PSG3,missense_variant,p.Pro323Thr,ENST00000595140,;PSG3,missense_variant,p.Pro323Thr,ENST00000327495,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,downstream_gene_variant,,ENST00000597009,;	1152	41	36	SUCCESS
CGB5	93659	.	GRCh37	19	49547421	49547421	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	rs770426766	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	28	78	0	ENST00000301408.6:c.-43del		p.*15*	ENST00000301408	NM_033043.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12752.1	.	INDELOCATOR|VARSCANI	.	CCACAACCCCGA	NONE	byFrequency	.	.	.	.	ENSP00000301408	.	1/3	.	.	.	.	.	.	.	.	rs770426766	1/3	PASS	ENST00000301408	Transcript	.	.	ENSG00000189052	16452	3	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB5	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	deletion	CGB5,5_prime_UTR_variant,,ENST00000301408,;CGB1,intron_variant,,ENST00000391869,;CGB8,downstream_gene_variant,,ENST00000448456,;CGB8,downstream_gene_variant,,ENST00000355414,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;	281	78	155	SUCCESS
PRMT1	3276	.	GRCh37	19	50188212	50188212	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	48	0	ENST00000454376.2:c.677G>A	p.Cys226Tyr	p.C226Y	ENST00000454376	NM_001536.5	226	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS46145.1	677	RADIA|VARSCANS	.	GTCTTGCATCA	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF54,Gene3D:2.70.160.11,Superfamily_domains:SSF53335	.	.	ENSP00000406162	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000454376	Transcript	.	.	ENSG00000126457	5187	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.129)	.	deleterious(0.05)	.	.	PRMT1	HGNC	H7C2I1_HUMAN,E9PQ98_HUMAN,E9PNR9_HUMAN,E9PKG1_HUMAN,E9PI83_HUMAN	.	UPI0000456CFB	SNV	PRMT1,missense_variant,p.Cys236Tyr,ENST00000524771,;PRMT1,missense_variant,p.Cys180Tyr,ENST00000534465,;PRMT1,missense_variant,p.Cys208Tyr,ENST00000391851,;PRMT1,missense_variant,p.Cys180Tyr,ENST00000532489,;PRMT1,missense_variant,p.Cys226Tyr,ENST00000454376,;PRMT1,missense_variant,p.Cys180Tyr,ENST00000527382,;PRMT1,downstream_gene_variant,,ENST00000526224,;PRMT1,downstream_gene_variant,,ENST00000528623,;PRMT1,downstream_gene_variant,,ENST00000529836,;ADM5,upstream_gene_variant,,ENST00000420022,;PRMT1,downstream_gene_variant,,ENST00000529284,;PRMT1,downstream_gene_variant,,ENST00000527412,;AC011495.1,downstream_gene_variant,,ENST00000581740,;CTB-33G10.6,downstream_gene_variant,,ENST00000596472,;PRMT1,non_coding_transcript_exon_variant,,ENST00000530070,;PRMT1,upstream_gene_variant,,ENST00000527866,;PRMT1,upstream_gene_variant,,ENST00000530361,;PRMT1,non_coding_transcript_exon_variant,,ENST00000525616,;PRMT1,non_coding_transcript_exon_variant,,ENST00000534676,;PRMT1,downstream_gene_variant,,ENST00000525915,;PRMT1,downstream_gene_variant,,ENST00000534280,;PRMT1,upstream_gene_variant,,ENST00000528126,;PRMT1,downstream_gene_variant,,ENST00000529650,;	686	48	40	SUCCESS
ZNF671	79891	.	GRCh37	19	58232430	58232430	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750871699	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	39	0	ENST00000317398.6:c.1024G>A	p.Glu342Lys	p.E342K	ENST00000317398	NM_024833.2	342	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12961.1	1024	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCGTATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390:SF44,hmmpanther:PTHR24390,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321848	.	4/4	.	.	.	.	.	.	.	.	rs750871699	4/4	PASS	ENST00000317398	Transcript	.	.	ENSG00000083814	26279	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.93)	.	tolerated(0.05)	.	ZN671_HUMAN	ZNF671	HGNC	C9J3V7_HUMAN	.	UPI000013C612	SNV	ZNF671,missense_variant,p.Glu342Lys,ENST00000317398,;ZNF671,missense_variant,p.Glu244Lys,ENST00000335820,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,downstream_gene_variant,,ENST00000596085,;ZNF671,downstream_gene_variant,,ENST00000596939,;AC003006.7,intron_variant,,ENST00000599221,;ZNF671,downstream_gene_variant,,ENST00000599961,;ZNF671,downstream_gene_variant,,ENST00000594803,;ZNF671,3_prime_UTR_variant,,ENST00000601584,;ZNF671,3_prime_UTR_variant,,ENST00000600125,;	1120	39	32	SUCCESS
CELF3	11189	.	GRCh37	1	151679702	151679702	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs966059814	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	87	0	ENST00000290583.4:c.841G>A	p.Gly281Ser	p.G281S	ENST00000290583	NM_001172648.1	281	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1002.1	841	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCCGTTGA	NONE	.	.	hmmpanther:PTHR24622:SF169,hmmpanther:PTHR24622	.	.	ENSP00000290583	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000290583	Transcript	.	.	ENSG00000159409	11967	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.138)	.	tolerated(0.13)	.	CELF3_HUMAN	CELF3	HGNC	Q8IZ97_HUMAN	.	UPI000013F059	SNV	CELF3,missense_variant,p.Gly281Ser,ENST00000290583,;CELF3,missense_variant,p.Gly282Ser,ENST00000420342,;CELF3,missense_variant,p.Gly98Ser,ENST00000392706,;CELF3,intron_variant,,ENST00000290585,;RIIAD1,upstream_gene_variant,,ENST00000326413,;AL589765.1,upstream_gene_variant,,ENST00000442233,;RP11-98D18.1,intron_variant,,ENST00000457548,;CELF3,non_coding_transcript_exon_variant,,ENST00000470688,;CELF3,downstream_gene_variant,,ENST00000479893,;CELF3,downstream_gene_variant,,ENST00000478829,;CELF3,downstream_gene_variant,,ENST00000419910,;	1635	87	103	SUCCESS
PBX1	5087	.	GRCh37	1	164768969	164768969	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	51	0	ENST00000420696.2:c.544C>T	p.Leu182Phe	p.L182F	ENST00000420696	NM_002585.3	182	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS1246.1	544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCTCCTG	NONE	.	.	Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000405890	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000420696	Transcript	.	.	ENSG00000185630	8632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PBX1_HUMAN	PBX1	HGNC	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN	.	UPI00000213E1	SNV	PBX1,missense_variant,p.Leu110Phe,ENST00000559578,;PBX1,missense_variant,p.Leu182Phe,ENST00000540236,;PBX1,missense_variant,p.Leu182Phe,ENST00000559240,;PBX1,missense_variant,p.Leu77Phe,ENST00000560641,;PBX1,missense_variant,p.Leu182Phe,ENST00000367897,;PBX1,missense_variant,p.Leu77Phe,ENST00000558837,;PBX1,missense_variant,p.Leu182Phe,ENST00000420696,;PBX1,missense_variant,p.Leu77Phe,ENST00000559560,;PBX1,missense_variant,p.Leu77Phe,ENST00000540246,;PBX1,missense_variant,p.Leu77Phe,ENST00000482110,;PBX1,missense_variant,p.Leu182Phe,ENST00000401534,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;	732	51	69	SUCCESS
RXRG	6258	.	GRCh37	1	165376062	165376062	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780391845	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	28	0	ENST00000359842.5:c.1231G>A	p.Glu411Lys	p.E411K	ENST00000359842	NM_001256570.1	411	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1248.1	1231	RADIA|MUTECT|VARSCANS	.	CTGTTCCGGAT	NONE	byFrequency	.	hmmpanther:PTHR24083:SF83,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000352900	.	9/10	.	.	.	.	.	.	.	.	rs780391845	9/10	PASS	ENST00000359842	Transcript	.	.	ENSG00000143171	10479	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.075)	.	deleterious(0.03)	.	RXRG_HUMAN	RXRG	HGNC	F1D8Q7_HUMAN	.	UPI000004989F	SNV	RXRG,missense_variant,p.Glu411Lys,ENST00000359842,;RXRG,downstream_gene_variant,,ENST00000470566,;	1534	28	60	SUCCESS
SERPINC1	462	.	GRCh37	1	173878764	173878764	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1410177368	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	29	0	ENST00000367698.3:c.1079G>A	p.Gly360Asp	p.G360D	ENST00000367698	NM_000488.3	360	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1313.1	1079	RADIA|MUTECT|MUSE	.	TGAAGCCGTCC	NONE	.	.	hmmpanther:PTHR11461:SF53,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000356671	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000367698	Transcript	.	.	ENSG00000117601	775	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.13)	.	tolerated(0.13)	.	ANT3_HUMAN	SERPINC1	HGNC	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN	.	UPI000002C0C1	SNV	SERPINC1,missense_variant,p.Gly360Asp,ENST00000367698,;SERPINC1,downstream_gene_variant,,ENST00000494024,;SERPINC1,downstream_gene_variant,,ENST00000487183,;	1198	29	36	SUCCESS
PADI1	29943	.	GRCh37	1	17563890	17563890	+	synonymous_variant	Silent	SNP	G	G	A	rs766287642	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	30	73	0	ENST00000375471.4:c.1395G>A	p.Ser465=	p.S465=	ENST00000375471	NM_013358.2	465	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS178.1	1395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCGGACTG	NONE	byFrequency	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364620	.	12/16	.	.	.	.	.	.	.	.	rs766287642	12/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,synonymous_variant,p.%3D,ENST00000537499,;PADI1,synonymous_variant,p.%3D,ENST00000413717,;PADI1,synonymous_variant,p.%3D,ENST00000375471,;PADI1,intron_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000460293,;	1487	73	44	SUCCESS
PADI3	51702	.	GRCh37	1	17609432	17609432	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs35624745	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	44	0	ENST00000375460.3:c.1853G>A	p.Arg618Gln	p.R618Q	ENST00000375460	NM_016233.2	618	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS179.1	1853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGGTCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10837:SF2,hmmpanther:PTHR10837,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364609	.	16/16	.	.	.	.	.	.	.	.	rs35624745	16/16	PASS	ENST00000375460	Transcript	.	.	ENSG00000142619	18337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.1)	.	PADI3_HUMAN	PADI3	HGNC	.	.	UPI000013D8A0	SNV	PADI3,missense_variant,p.Arg618Gln,ENST00000375460,;MIR3972,downstream_gene_variant,,ENST00000582732,;	1893	44	34	SUCCESS
DHX9	1660	.	GRCh37	1	182852382	182852382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	74	123	0	ENST00000367549.3:c.3023A>T	p.Glu1008Val	p.E1008V	ENST00000367549	NM_001357.4	1008	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS41444.1	3023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGAAAAGA	NONE	.	.	hmmpanther:PTHR18934:SF84,hmmpanther:PTHR18934,Pfam_domain:PF07717	.	.	ENSP00000356520	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000367549	Transcript	.	.	ENSG00000135829	2750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.04)	.	DHX9_HUMAN	DHX9	HGNC	.	.	UPI00001AEF15	SNV	DHX9,missense_variant,p.Glu1008Val,ENST00000367549,;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,intron_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000474446,;	3133	123	137	SUCCESS
YOD1	55432	.	GRCh37	1	207224106	207224106	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	9	58	0	ENST00000315927.4:c.270C>T	p.Leu90=	p.L90=	ENST00000315927	NM_018566.3	90	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31002.1	270	MUTECT|MUSE|VARSCANS	.	CCGACGAGGAT	NONE	.	.	hmmpanther:PTHR13312:SF0,hmmpanther:PTHR13312,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	.	.	ENSP00000326813	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000315927	Transcript	.	.	ENSG00000180667	25035	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OTU1_HUMAN	YOD1	HGNC	.	.	UPI0000458A05	SNV	YOD1,synonymous_variant,p.%3D,ENST00000315927,;YOD1,synonymous_variant,p.%3D,ENST00000367084,;YOD1,synonymous_variant,p.%3D,ENST00000391927,;PFKFB2,intron_variant,,ENST00000411990,;PFKFB2,upstream_gene_variant,,ENST00000367080,;PFKFB2,upstream_gene_variant,,ENST00000545806,;PFKFB2,upstream_gene_variant,,ENST00000367079,;PFKFB2,upstream_gene_variant,,ENST00000464777,;PFKFB2,upstream_gene_variant,,ENST00000468857,;	317	58	106	SUCCESS
CR2	1380	.	GRCh37	1	207641906	207641906	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	147	210	0	ENST00000367058.3:c.480C>T	p.Ile160=	p.I160=	ENST00000367058	NM_001877.4	160	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31007.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCCACAA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	3/20	.	.	.	.	.	.	.	.	COSM3482633	3/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,synonymous_variant,p.%3D,ENST00000458541,;CR2,synonymous_variant,p.%3D,ENST00000367057,;CR2,synonymous_variant,p.%3D,ENST00000367058,;CR2,synonymous_variant,p.%3D,ENST00000367059,;CR2,non_coding_transcript_exon_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;CR2,downstream_gene_variant,,ENST00000479186,;	669	210	264	SUCCESS
HSD11B1	3290	.	GRCh37	1	209878227	209878227	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	28	0	ENST00000367027.3:c.-61G>T		p.*21*	ENST00000367027	NM_005525.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1489.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGAAAGC	NONE	.	.	.	.	.	ENSP00000355995	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367028	Transcript	.	.	ENSG00000117594	5208	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DHI1_HUMAN	HSD11B1	HGNC	.	.	UPI000004C796	SNV	HSD11B1,5_prime_UTR_variant,,ENST00000367027,;HSD11B1,intron_variant,,ENST00000261465,;HSD11B1,intron_variant,,ENST00000367028,;RP1-28O10.1,intron_variant,,ENST00000441672,;	.	28	39	SUCCESS
PCNXL2	0	.	GRCh37	1	233397906	233397906	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	16	97	0	ENST00000258229.9:c.365A>G	p.Asn122Ser	p.N122S	ENST00000258229	NM_014801.3	122	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS44335.1	365	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTATTATTG	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	3/34	.	.	.	.	.	.	.	.	.	3/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.035)	.	tolerated(0.33)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Asn122Ser,ENST00000258229,;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,upstream_gene_variant,,ENST00000475463,;	600	97	134	SUCCESS
PLD5	200150	.	GRCh37	1	242451667	242451667	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	448	54	381	0	ENST00000442594.2:c.216T>A	p.Cys72Ter	p.C72*	ENST00000442594	NM_152666.2	72	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS1621.2	492	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGACATGC	NONE	.	.	hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000440896	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,stop_gained,p.Cys164Ter,ENST00000536534,;PLD5,stop_gained,p.Cys102Ter,ENST00000427495,;PLD5,stop_gained,p.Cys102Ter,ENST00000459864,;PLD5,stop_gained,p.Cys72Ter,ENST00000442594,;PLD5,stop_gained,p.Cys164Ter,ENST00000467561,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,intron_variant,,ENST00000314833,;	734	381	503	SUCCESS
C1orf94	84970	.	GRCh37	1	34663019	34663019	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs759596517	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	33	0	ENST00000488417.1:c.514G>T	p.Glu172Ter	p.E172*	ENST00000488417	NM_001134734.1	172	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS44108.1	514	RADIA|MUTECT|VARSCANS	.	GTAATGAGCGC	NONE	.	.	.	.	.	ENSP00000435634	.	2/7	.	.	.	.	.	.	.	.	rs759596517	2/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,stop_gained,p.Glu172Ter,ENST00000488417,;C1orf94,5_prime_UTR_variant,,ENST00000373374,;	634	33	20	SUCCESS
MACF1	23499	.	GRCh37	1	39946609	39946609	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	28	0	ENST00000372915.3:c.21780+928T>G		p.*7260*	ENST00000372915				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS435.1	.	RADIA|MUTECT	.	TTCTCTCGCTG	NONE	.	.	.	.	.	ENSP00000439537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODIFIER	92/93	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000446276,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,synonymous_variant,p.%3D,ENST00000442046,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000360115,;MACF1,downstream_gene_variant,,ENST00000422234,;MACF1,non_coding_transcript_exon_variant,,ENST00000496360,;MACF1,intron_variant,,ENST00000497807,;MACF1,downstream_gene_variant,,ENST00000462496,;MACF1,downstream_gene_variant,,ENST00000462103,;	.	28	23	SUCCESS
NFYC	4802	.	GRCh37	1	41215259	41215259	+	synonymous_variant	Silent	SNP	A	A	G	rs756363774	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	71	0	ENST00000308733.5:c.192A>G	p.Glu64=	p.E64=	ENST00000308733		64	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS44120.1	192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAGCGCC	NONE	.	.	hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8,Gene3D:1.10.20.10,Pfam_domain:PF00808,Superfamily_domains:SSF47113	.	.	ENSP00000396620	.	4/11	.	.	.	.	.	.	.	.	rs756363774	4/11	PASS	ENST00000425457	Transcript	.	.	ENSG00000066136	7806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFYC_HUMAN	NFYC	HGNC	Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN	.	UPI0000D4DA2D	SNV	NFYC,synonymous_variant,p.%3D,ENST00000456393,;NFYC,synonymous_variant,p.%3D,ENST00000530965,;NFYC,synonymous_variant,p.%3D,ENST00000372652,;NFYC,synonymous_variant,p.%3D,ENST00000372651,;NFYC,synonymous_variant,p.%3D,ENST00000425457,;NFYC,synonymous_variant,p.%3D,ENST00000453631,;NFYC,synonymous_variant,p.%3D,ENST00000372653,;NFYC,synonymous_variant,p.%3D,ENST00000447388,;NFYC,synonymous_variant,p.%3D,ENST00000372669,;NFYC,synonymous_variant,p.%3D,ENST00000416859,;NFYC,synonymous_variant,p.%3D,ENST00000308733,;NFYC,synonymous_variant,p.%3D,ENST00000440226,;NFYC,synonymous_variant,p.%3D,ENST00000372654,;NFYC,synonymous_variant,p.%3D,ENST00000525290,;NFYC,intron_variant,,ENST00000427410,;NFYC,downstream_gene_variant,,ENST00000531464,;NFYC,upstream_gene_variant,,ENST00000414185,;NFYC,downstream_gene_variant,,ENST00000534399,;MIR30E,upstream_gene_variant,,ENST00000362104,;NFYC,non_coding_transcript_exon_variant,,ENST00000467203,;NFYC,intron_variant,,ENST00000424419,;	352	71	52	SUCCESS
PIK3CD	5293	.	GRCh37	1	9782105	9782105	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	57	0	ENST00000377346.4:c.2128C>T	p.Gln710Ter	p.Q710*	ENST00000377346	NM_005026.3	710	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS104.1	2128	RADIA|VARSCANS	.	AGCCCCAGACC	NONE	.	.	hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112	.	.	ENSP00000366563	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000377346	Transcript	.	.	ENSG00000171608	8977	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PK3CD_HUMAN	PIK3CD	HGNC	B7ZM44_HUMAN	.	UPI000013E807	SNV	PIK3CD,stop_gained,p.Gln734Ter,ENST00000536656,;PIK3CD,stop_gained,p.Gln710Ter,ENST00000377346,;PIK3CD,stop_gained,p.Gln734Ter,ENST00000361110,;PIK3CD,3_prime_UTR_variant,,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;	2323	57	40	SUCCESS
KIF3B	9371	.	GRCh37	20	30897746	30897746	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	54	0	ENST00000375712.3:c.166del	p.Thr56ProfsTer90	p.T56Pfs*90	ENST00000375712	NM_004798.3	56	Acc/cc	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS13200.1	166	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCAAGACCTTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00129,Pfam_domain:PF00225,Gene3D:3.40.850.10,hmmpanther:PTHR24115:SF349,hmmpanther:PTHR24115,PROSITE_profiles:PS50067	.	.	ENSP00000364864	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000375712	Transcript	.	.	ENSG00000101350	6320	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF3B_HUMAN	KIF3B	HGNC	.	.	UPI000012DDB1	deletion	KIF3B,frameshift_variant,p.Thr56ProfsTer90,ENST00000375712,;KIF3B,upstream_gene_variant,,ENST00000418717,;	333	54	71	SUCCESS
ASXL1	171023	.	GRCh37	20	31021262	31021262	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	41	0	ENST00000375687.4:c.1261A>G	p.Arg421Gly	p.R421G	ENST00000375687	NM_015338.5	421	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS13201.1	1261	RADIA|MUTECT|VARSCANS	.	GAGCCAGAAGG	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,missense_variant,p.Arg421Gly,ENST00000375687,;ASXL1,missense_variant,p.Arg416Gly,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000470145,;ASXL1,downstream_gene_variant,,ENST00000555564,;	1685	41	36	SUCCESS
GDF5	8200	.	GRCh37	20	34022378	34022378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	41	0	ENST00000374369.3:c.835G>A	p.Asp279Asn	p.D279N	ENST00000374369	NM_000557.2	279	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13254.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCAGCA	BUFFER|p.E144A|c.431A>C|4,BUFFER|p.E144A|c.431A>C|4,BUFFER|p.S276A|c.826T>G|4	.	.	hmmpanther:PTHR11848:SF44,hmmpanther:PTHR11848,Pfam_domain:PF00688	.	.	ENSP00000363492	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374372	Transcript	1	.	ENSG00000125965	4220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0.01)	.	GDF5_HUMAN	GDF5	HGNC	D3YR76_HUMAN,D3YQT0_HUMAN	.	UPI000002E33B	SNV	GDF5,missense_variant,p.Asp279Asn,ENST00000374372,;GDF5,missense_variant,p.Asp279Asn,ENST00000374369,;GDF5OS,missense_variant,p.Ser141Phe,ENST00000374375,;	1339	41	45	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42143656	42143656	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	23	0	ENST00000427442.2:c.448del	p.Gln150ArgfsTer50	p.Q150Rfs*50	ENST00000427442		148	caC/ca	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS46602.2	444	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACCACCCCCA	NONE	.	.	.	.	.	ENSP00000402107	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	deletion	L3MBTL1,frameshift_variant,p.Gln82ArgfsTer50,ENST00000444063,;L3MBTL1,frameshift_variant,p.Gln82ArgfsTer50,ENST00000373134,;L3MBTL1,frameshift_variant,p.Gln82ArgfsTer50,ENST00000373135,;L3MBTL1,frameshift_variant,p.Gln42ArgfsTer?,ENST00000434666,;L3MBTL1,frameshift_variant,p.Gln150ArgfsTer50,ENST00000427442,;L3MBTL1,frameshift_variant,p.Gln150ArgfsTer50,ENST00000418998,;L3MBTL1,downstream_gene_variant,,ENST00000439769,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000473981,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000457824,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000468336,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000473289,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000430781,;	603	23	74	SUCCESS
TFAP2C	7022	.	GRCh37	20	55212882	55212882	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762413823	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	52	0	ENST00000201031.2:c.1166G>A	p.Cys389Tyr	p.C389Y	ENST00000201031	NM_003222.3	389	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS13454.1	1166	RADIA|MUTECT|VARSCANS	.	GAACTGCTTGT	NONE	byFrequency	.	hmmpanther:PTHR10812:SF9,hmmpanther:PTHR10812,Pfam_domain:PF03299	.	.	ENSP00000201031	.	7/7	.	.	.	.	.	.	.	.	rs762413823	7/7	PASS	ENST00000201031	Transcript	.	.	ENSG00000087510	11744	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.636)	.	deleterious(0.02)	.	AP2C_HUMAN	TFAP2C	HGNC	B4DWK3_HUMAN	.	UPI0000125BC8	SNV	TFAP2C,missense_variant,p.Cys220Tyr,ENST00000544508,;TFAP2C,missense_variant,p.Cys389Tyr,ENST00000201031,;	1409	52	53	SUCCESS
ZNF831	128611	.	GRCh37	20	57767023	57767023	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	11	18	0	ENST00000371030.2:c.949C>A	p.Arg317=	p.R317=	ENST00000371030	NM_178457.2	317	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42894.1	949	SOMATICSNIPER|MUTECT|MUSE	.	TGCAGCGGCAG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	COSM1737503	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	949	18	15	SUCCESS
LAMA5	3911	.	GRCh37	20	60886538	60886538	+	synonymous_variant	Silent	SNP	A	A	G	rs759422371	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	62	0	ENST00000252999.3:c.9861T>C	p.Asn3287=	p.N3287=	ENST00000252999	NM_005560.4	3287	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS33502.1	9861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACATTGAC	NONE	byFrequency	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000252999	.	72/80	.	.	.	.	.	.	.	.	rs759422371	72/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,synonymous_variant,p.%3D,ENST00000252999,;ADRM1,downstream_gene_variant,,ENST00000253003,;ADRM1,downstream_gene_variant,,ENST00000465805,;LAMA5,upstream_gene_variant,,ENST00000492698,;ADRM1,downstream_gene_variant,,ENST00000462554,;LAMA5,synonymous_variant,p.%3D,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000462415,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000491036,;LAMA5,downstream_gene_variant,,ENST00000468786,;LAMA5,downstream_gene_variant,,ENST00000471042,;	9928	62	56	SUCCESS
PLCB1	23236	.	GRCh37	20	8626827	8626827	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	13	123	0	ENST00000338037.6:c.463G>A	p.Ala155Thr	p.A155T	ENST00000338037	NM_015192.3	155	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13102.1	463	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGCGTAA	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF47473	.	.	ENSP00000338185	.	5/32	.	.	.	.	.	.	.	.	.	5/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.131)	.	tolerated(0.28)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Ala155Thr,ENST00000378641,;PLCB1,missense_variant,p.Ala155Thr,ENST00000338037,;PLCB1,missense_variant,p.Ala154Thr,ENST00000404098,;PLCB1,missense_variant,p.Ala155Thr,ENST00000378637,;PLCB1,upstream_gene_variant,,ENST00000475958,;	490	123	108	SUCCESS
USP25	29761	.	GRCh37	21	17197365	17197365	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754666962	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	35	250	0	ENST00000285679.6:c.1289A>G	p.Gln430Arg	p.Q430R	ENST00000285679	NM_013396.3	430	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS33515.1	1289	RADIA|MUTECT|MUSE|VARSCANS	.	ATTACAACAAA	BUFFER|p.T427M|c.1280C>T|3	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000285679	.	12/24	.	.	.	.	.	.	.	.	rs754666962	12/24	PASS	ENST00000285679	Transcript	.	.	ENSG00000155313	12624	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.227)	.	deleterious(0.03)	.	UBP25_HUMAN	USP25	HGNC	Q9HA22_HUMAN	.	UPI000002B680	SNV	USP25,missense_variant,p.Gln430Arg,ENST00000400183,;USP25,missense_variant,p.Gln13Arg,ENST00000453553,;USP25,missense_variant,p.Gln430Arg,ENST00000285679,;USP25,missense_variant,p.Gln430Arg,ENST00000285681,;USP25,intron_variant,,ENST00000351097,;	1658	250	137	SUCCESS
TTC3	7267	.	GRCh37	21	38538901	38538901	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1239369508	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	102	0	ENST00000354749.2:c.4385A>G	p.Gln1462Arg	p.Q1462R	ENST00000354749		1462	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13651.1	4385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCAGATGG	NONE	.	.	hmmpanther:PTHR17550	.	.	ENSP00000381981	.	33/46	.	.	.	.	.	.	.	.	.	33/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Gln1462Arg,ENST00000354749,;TTC3,missense_variant,p.Gln1462Arg,ENST00000355666,;TTC3,missense_variant,p.Gln1462Arg,ENST00000399017,;TTC3,downstream_gene_variant,,ENST00000438055,;TTC3,downstream_gene_variant,,ENST00000418766,;TTC3,downstream_gene_variant,,ENST00000411496,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,downstream_gene_variant,,ENST00000487711,;TTC3,downstream_gene_variant,,ENST00000469939,;TTC3,downstream_gene_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;	7132	102	62	SUCCESS
AGPAT3	56894	.	GRCh37	21	45397993	45397993	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs775834879	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	20	0	ENST00000291572.8:c.834C>G	p.Tyr278Ter	p.Y278*	ENST00000291572	NM_020132.4	278	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS13703.1	834	RADIA|MUTECT|MUSE	.	CTGTACCAGGA	NONE	.	.	hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF9	.	.	ENSP00000381140	.	7/9	.	.	.	.	.	.	.	.	rs775834879	7/9	PASS	ENST00000398063	Transcript	.	.	ENSG00000160216	326	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLCC_HUMAN	AGPAT3	HGNC	C9JQX8_HUMAN,C9JL26_HUMAN,C9JK35_HUMAN,C9J184_HUMAN	.	UPI000004616E	SNV	AGPAT3,stop_gained,p.Tyr278Ter,ENST00000398061,;AGPAT3,stop_gained,p.Tyr278Ter,ENST00000546158,;AGPAT3,stop_gained,p.Tyr278Ter,ENST00000398063,;AGPAT3,stop_gained,p.Tyr278Ter,ENST00000327505,;AGPAT3,stop_gained,p.Tyr278Ter,ENST00000398058,;AGPAT3,stop_gained,p.Tyr278Ter,ENST00000291572,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000479117,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000484865,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000467358,;	1326	20	9	SUCCESS
TTC28	23331	.	GRCh37	22	28504014	28504014	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1254650178	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	45	0	ENST00000397906.2:c.1819C>T	p.Arg607Trp	p.R607W	ENST00000397906	NM_001145418.1	607	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS46678.1	1819	MUTECT|MUSE|VARSCANS	.	TCCCCGAGAGC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13424,Gene3D:1.25.40.10,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000381003	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	SNV	TTC28,missense_variant,p.Arg607Trp,ENST00000397906,;	1961	45	27	SUCCESS
EWSR1	2130	.	GRCh37	22	29693885	29693885	+	synonymous_variant	Silent	SNP	C	C	A	rs772636858	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	30	0	ENST00000397938.2:c.1363C>A	p.Arg455=	p.R455=	ENST00000397938	NM_001163286.1	455	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS13852.2	1378	MUTECT|VARSCANS	.	GTATGCGGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000400142	.	14/18	.	.	.	.	.	.	.	.	rs772636858,COSM1033137,COSM2936290	14/18	PASS	ENST00000414183	Transcript	.	.	ENSG00000182944	3508	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	EWS_HUMAN	EWSR1	HGNC	.	.	UPI000006DE88	SNV	EWSR1,synonymous_variant,p.%3D,ENST00000406548,;EWSR1,synonymous_variant,p.%3D,ENST00000414183,;EWSR1,synonymous_variant,p.%3D,ENST00000332050,;EWSR1,synonymous_variant,p.%3D,ENST00000397938,;EWSR1,synonymous_variant,p.%3D,ENST00000332035,;EWSR1,synonymous_variant,p.%3D,ENST00000331029,;EWSR1,synonymous_variant,p.%3D,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;	1399	30	28	SUCCESS
RANBP2	5903	.	GRCh37	2	109383262	109383262	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	38	0	ENST00000283195.6:c.6267A>G	p.Ile2089Met	p.I2089M	ENST00000283195	NM_006267.4	2089	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS2079.1	6267	RADIA|VARSCANS	.	TGGATAACGAC	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000283195	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Ile2089Met,ENST00000283195,;	6393	38	33	SUCCESS
XIRP2	129446	.	GRCh37	2	168097234	168097234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	64	170	0	ENST00000409195.1:c.1030G>T	p.Val344Phe	p.V344F	ENST00000409195	NM_152381.5	344	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS42769.1	1030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATGTTCAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Val122Phe,ENST00000409605,;XIRP2,missense_variant,p.Val122Phe,ENST00000409273,;XIRP2,missense_variant,p.Val344Phe,ENST00000409195,;XIRP2,missense_variant,p.Val377Phe,ENST00000420519,;XIRP2,missense_variant,p.Val344Phe,ENST00000409756,;XIRP2,missense_variant,p.Val344Phe,ENST00000409043,;XIRP2,missense_variant,p.Val377Phe,ENST00000409728,;XIRP2,missense_variant,p.Val344Phe,ENST00000295237,;	1119	170	146	SUCCESS
DNAJC10	54431	.	GRCh37	2	183604933	183604934	+	intron_variant	Intron	INS	-	-	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	114	73	136	0	ENST00000264065.7:c.988-88dup		p.*330*	ENST00000264065	NM_018981.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33345.1	.	VARSCANI*|PINDEL	.	TTTCCTAAAAA	NONE	.	.	.	.	.	ENSP00000264065	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264065	Transcript	.	.	ENSG00000077232	24637	5	.	MODIFIER	11/23	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DJC10_HUMAN	DNAJC10	HGNC	Q8N4C5_HUMAN	.	UPI000007376C	insertion	DNAJC10,intron_variant,,ENST00000264065,;DNAJC10,downstream_gene_variant,,ENST00000537515,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,intron_variant,,ENST00000444005,;DNAJC10,intron_variant,,ENST00000418559,;	.	136	187	SUCCESS
RAPH1	65059	.	GRCh37	2	204306126	204306126	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776413554	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	47	0	ENST00000319170.5:c.1787A>G	p.Glu596Gly	p.E596G	ENST00000319170	NM_213589.1	596	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2359.1	1787	RADIA|VARSCANS	.	TAGACTCCATT	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15	.	.	ENSP00000316543	.	14/14	.	.	.	.	.	.	.	.	rs776413554	14/14	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.196)	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,missense_variant,p.Glu648Gly,ENST00000374493,;RAPH1,missense_variant,p.Glu596Gly,ENST00000319170,;ABI2,3_prime_UTR_variant,,ENST00000295851,;RAPH1,intron_variant,,ENST00000457812,;RAPH1,downstream_gene_variant,,ENST00000418114,;RAPH1,downstream_gene_variant,,ENST00000423104,;RAPH1,downstream_gene_variant,,ENST00000419464,;RAPH1,downstream_gene_variant,,ENST00000374488,;RAPH1,downstream_gene_variant,,ENST00000439222,;RAPH1,downstream_gene_variant,,ENST00000374489,;RAPH1,downstream_gene_variant,,ENST00000453034,;RAPH1,downstream_gene_variant,,ENST00000308091,;ABI2,downstream_gene_variant,,ENST00000464761,;	2087	47	31	SUCCESS
FN1	2335	.	GRCh37	2	216238044	216238044	+	splice_donor_variant	Splice_Site	SNP	C	C	G	rs111852829	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	29	219	0	ENST00000359671.1:c.5974+1G>C		p.X1992_splice	ENST00000359671		1992		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42814.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACCTGTC	NONE	byCluster	.	.	.	.	ENSP00000346839	.	.	.	.	.	.	.	.	.	.	rs111852829	.	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	HIGH	39/45	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,splice_donor_variant,,ENST00000432072,;FN1,splice_donor_variant,,ENST00000443816,;FN1,splice_donor_variant,,ENST00000345488,;FN1,splice_donor_variant,,ENST00000354785,;FN1,splice_donor_variant,,ENST00000359671,;FN1,splice_donor_variant,,ENST00000357009,;FN1,splice_donor_variant,,ENST00000446046,;FN1,splice_donor_variant,,ENST00000438981,;FN1,splice_donor_variant,,ENST00000357867,;FN1,splice_donor_variant,,ENST00000421182,;FN1,splice_donor_variant,,ENST00000346544,;FN1,splice_donor_variant,,ENST00000336916,;FN1,splice_donor_variant,,ENST00000456923,;FN1,splice_donor_variant,,ENST00000323926,;FN1,splice_donor_variant,,ENST00000356005,;FN1,splice_donor_variant,,ENST00000492816,;FN1,splice_donor_variant,,ENST00000460217,;FN1,downstream_gene_variant,,ENST00000474036,;FN1,upstream_gene_variant,,ENST00000461974,;FN1,upstream_gene_variant,,ENST00000485567,;FN1,upstream_gene_variant,,ENST00000480024,;	.	219	203	SUCCESS
ANKMY1	51281	.	GRCh37	2	241492433	241492433	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	45	0	ENST00000272972.3:c.111G>A	p.Leu37=	p.L37=	ENST00000272972	NM_016552.2	37	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2536.1	111	RADIA|VARSCANS	.	GTACCCAGGCC	NONE	.	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897,Gene3D:1h3iA01,Pfam_domain:PF02493,SMART_domains:SM00698,Superfamily_domains:0038399	.	.	ENSP00000375847	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,synonymous_variant,p.%3D,ENST00000441168,;ANKMY1,synonymous_variant,p.%3D,ENST00000405523,;ANKMY1,synonymous_variant,p.%3D,ENST00000391987,;ANKMY1,synonymous_variant,p.%3D,ENST00000361678,;ANKMY1,synonymous_variant,p.%3D,ENST00000405002,;ANKMY1,synonymous_variant,p.%3D,ENST00000373320,;ANKMY1,synonymous_variant,p.%3D,ENST00000403283,;ANKMY1,synonymous_variant,p.%3D,ENST00000401804,;ANKMY1,synonymous_variant,p.%3D,ENST00000418505,;ANKMY1,synonymous_variant,p.%3D,ENST00000272972,;ANKMY1,synonymous_variant,p.%3D,ENST00000536462,;ANKMY1,synonymous_variant,p.%3D,ENST00000373318,;ANKMY1,synonymous_variant,p.%3D,ENST00000418708,;ANKMY1,synonymous_variant,p.%3D,ENST00000406958,;ANKMY1,intron_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000411765,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000464991,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,intron_variant,,ENST00000484526,;ANKMY1,downstream_gene_variant,,ENST00000477316,;	478	45	41	SUCCESS
DYSF	8291	.	GRCh37	2	71778194	71778194	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	79	1	ENST00000258104.3:c.1546C>A	p.Pro516Thr	p.P516T	ENST00000258104	NM_003494.3	516	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS46328.1	1600	SOMATICSNIPER|VARSCANS	.	TCCTCCCCACT	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35	.	.	ENSP00000386881	.	18/56	.	.	.	.	.	.	.	.	.	18/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Pro533Thr,ENST00000409582,;DYSF,missense_variant,p.Pro534Thr,ENST00000410020,;DYSF,missense_variant,p.Pro503Thr,ENST00000409744,;DYSF,missense_variant,p.Pro516Thr,ENST00000429174,;DYSF,missense_variant,p.Pro533Thr,ENST00000409762,;DYSF,missense_variant,p.Pro534Thr,ENST00000410041,;DYSF,missense_variant,p.Pro548Thr,ENST00000409651,;DYSF,missense_variant,p.Pro517Thr,ENST00000394120,;DYSF,missense_variant,p.Pro517Thr,ENST00000409366,;DYSF,missense_variant,p.Pro547Thr,ENST00000413539,;DYSF,missense_variant,p.Pro516Thr,ENST00000258104,;	1741	80	66	SUCCESS
SEMA4F	10505	.	GRCh37	2	74901762	74901762	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	114	0	ENST00000357877.2:c.960G>C	p.Gly320=	p.G320=	ENST00000357877	NM_004263.4	320	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS1955.1	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGGCAGG	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,PROSITE_profiles:PS51004	.	.	ENSP00000350547	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000357877	Transcript	.	.	ENSG00000135622	10734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM4F_HUMAN	SEMA4F	HGNC	.	.	UPI0000001BF5	SNV	SEMA4F,synonymous_variant,p.%3D,ENST00000453930,;SEMA4F,synonymous_variant,p.%3D,ENST00000357877,;SEMA4F,synonymous_variant,p.%3D,ENST00000339773,;SEMA4F,downstream_gene_variant,,ENST00000434486,;SEMA4F,upstream_gene_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,downstream_gene_variant,,ENST00000458114,;	1109	114	88	SUCCESS
REG1B	5968	.	GRCh37	2	79314699	79314699	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	128	0	ENST00000305089.3:c.40C>A	p.Leu14Met	p.L14M	ENST00000305089	NM_006507.3	14	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS1963.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGGGAGG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF31	.	.	ENSP00000303206	.	2/6	.	.	.	.	.	.	.	.	COSM1532436	2/6	PASS	ENST00000305089	Transcript	.	.	ENSG00000172023	9952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.665)	.	deleterious(0.01)	1	REG1B_HUMAN	REG1B	HGNC	Q6ICS1_HUMAN	.	UPI00000012AB	SNV	REG1B,missense_variant,p.Leu14Met,ENST00000305089,;REG1B,upstream_gene_variant,,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000476554,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,non_coding_transcript_exon_variant,,ENST00000469052,;	121	128	98	SUCCESS
DNAH6	1768	.	GRCh37	2	84852030	84852030	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368034415	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	116	0	ENST00000237449.6:c.4358G>T	p.Arg1453Leu	p.R1453L	ENST00000237449		1453	cGc/cTc	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS46348.1	4358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCGCTGCT	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF12774	.	A:0.0003	ENSP00000374045	.	29/77	.	.	.	.	.	.	.	.	rs368034415	29/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Arg1453Leu,ENST00000237449,;DNAH6,missense_variant,p.Arg1453Leu,ENST00000398278,;DNAH6,missense_variant,p.Arg1453Leu,ENST00000389394,;	4495	116	75	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111764780	111764780	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	109	337	0	ENST00000452346.2:c.681G>A	p.Val227=	p.V227=	ENST00000452346		227	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43129.2	342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGGTACT	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,Superfamily_domains:0047452	.	.	ENSP00000411645	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,synonymous_variant,p.%3D,ENST00000452346,;TMPRSS7,synonymous_variant,p.%3D,ENST00000460599,;TMPRSS7,synonymous_variant,p.%3D,ENST00000419127,;TMPRSS7,synonymous_variant,p.%3D,ENST00000435737,;	424	337	286	SUCCESS
IGSF11	152404	.	GRCh37	3	118621409	118621409	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	6	84	0	ENST00000393775.2:c.1254T>C	p.Pro418=	p.P418=	ENST00000393775	NM_001015887.1	418	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46891.1	1254	MUTECT|VARSCANS	.	ATGACAGGTAC	NONE	.	.	hmmpanther:PTHR12231:SF74,hmmpanther:PTHR12231	.	.	ENSP00000377370	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000393775	Transcript	.	.	ENSG00000144847	16669	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IGS11_HUMAN	IGSF11	HGNC	C9JAD3_HUMAN,C9IZX3_HUMAN	.	UPI000013D9B3	SNV	IGSF11,synonymous_variant,p.%3D,ENST00000425327,;IGSF11,synonymous_variant,p.%3D,ENST00000441144,;IGSF11,synonymous_variant,p.%3D,ENST00000489689,;IGSF11,synonymous_variant,p.%3D,ENST00000393775,;IGSF11,synonymous_variant,p.%3D,ENST00000354673,;IGSF11,synonymous_variant,p.%3D,ENST00000491903,;	1560	84	73	SUCCESS
CCDC14	64770	.	GRCh37	3	123665744	123665744	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs777809722	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	71	0	ENST00000433542.2:c.1128T>A	p.Asp376Glu	p.D376E	ENST00000433542	NM_022757.4	376	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3025.2	1128	RADIA|MUTECT|MUSE|VARSCANS	.	TGTACATCCTT	NONE	byFrequency	.	hmmpanther:PTHR22367,hmmpanther:PTHR22367:SF1,Pfam_domain:PF15254	.	.	ENSP00000395706	.	7/12	.	.	.	.	.	.	.	.	rs777809722	7/12	PASS	ENST00000433542	Transcript	.	.	ENSG00000175455	25766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.866)	.	tolerated(0.26)	.	CCD14_HUMAN	CCDC14	HGNC	C9JWZ1_HUMAN	.	UPI00016632FB	SNV	CCDC14,missense_variant,p.Asp257Glu,ENST00000310351,;CCDC14,missense_variant,p.Asp217Glu,ENST00000485727,;CCDC14,missense_variant,p.Asp143Glu,ENST00000426152,;CCDC14,missense_variant,p.Asp398Glu,ENST00000409697,;CCDC14,missense_variant,p.Asp417Glu,ENST00000488653,;CCDC14,missense_variant,p.Asp376Glu,ENST00000433542,;CCDC14,missense_variant,p.Asp217Glu,ENST00000489746,;CCDC14,intron_variant,,ENST00000419247,;CCDC14,downstream_gene_variant,,ENST00000434954,;CCDC14,upstream_gene_variant,,ENST00000479903,;CCDC14,intron_variant,,ENST00000463996,;CCDC14,intron_variant,,ENST00000483247,;CCDC14,downstream_gene_variant,,ENST00000477268,;CCDC14,3_prime_UTR_variant,,ENST00000409657,;CCDC14,non_coding_transcript_exon_variant,,ENST00000495381,;CCDC14,intron_variant,,ENST00000471054,;CCDC14,downstream_gene_variant,,ENST00000438440,;CCDC14,upstream_gene_variant,,ENST00000485949,;CCDC14,downstream_gene_variant,,ENST00000435910,;CCDC14,downstream_gene_variant,,ENST00000417438,;	1528	71	60	SUCCESS
MBD4	8930	.	GRCh37	3	129155490	129155490	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs994641746	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	20	157	0	ENST00000249910.1:c.997A>T	p.Ile333Leu	p.I333L	ENST00000249910		333	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS3058.1	997	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTATGATGC	NONE	.	.	hmmpanther:PTHR15074,hmmpanther:PTHR15074:SF2,PIRSF_domain:PIRSF038005	.	.	ENSP00000249910	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000249910	Transcript	.	.	ENSG00000129071	6919	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	tolerated(0.78)	.	MBD4_HUMAN	MBD4	HGNC	.	.	UPI0000073E6A	SNV	MBD4,missense_variant,p.Ile333Leu,ENST00000503197,;MBD4,missense_variant,p.Ile333Leu,ENST00000249910,;MBD4,missense_variant,p.Ile333Leu,ENST00000429544,;MBD4,missense_variant,p.Ile333Leu,ENST00000507208,;MBD4,intron_variant,,ENST00000393278,;IFT122,upstream_gene_variant,,ENST00000349441,;IFT122,upstream_gene_variant,,ENST00000504021,;IFT122,upstream_gene_variant,,ENST00000507564,;IFT122,upstream_gene_variant,,ENST00000431818,;IFT122,upstream_gene_variant,,ENST00000347300,;IFT122,upstream_gene_variant,,ENST00000440957,;IFT122,upstream_gene_variant,,ENST00000296266,;IFT122,upstream_gene_variant,,ENST00000348417,;MBD4,intron_variant,,ENST00000509587,;MBD4,downstream_gene_variant,,ENST00000505883,;MBD4,intron_variant,,ENST00000509828,;MBD4,upstream_gene_variant,,ENST00000515266,;MBD4,upstream_gene_variant,,ENST00000511009,;IFT122,upstream_gene_variant,,ENST00000512220,;	1173	157	127	SUCCESS
COL6A6	131873	.	GRCh37	3	130289820	130289820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	82	0	ENST00000358511.6:c.2560G>A	p.Ala854Thr	p.A854T	ENST00000358511	NM_001102608.1	854	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46911.1	2560	RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGCTGAT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.825)	.	deleterious(0)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Ala854Thr,ENST00000453409,;COL6A6,missense_variant,p.Ala854Thr,ENST00000358511,;	2591	82	76	SUCCESS
NLGN1	22871	.	GRCh37	3	173322666	173322666	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749776633	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	37	95	0	ENST00000457714.1:c.278G>T	p.Arg93Leu	p.R93L	ENST00000457714	NM_014932.3	93	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3222.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACGTCGTT	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	3/7	.	.	.	.	.	.	.	.	rs749776633,COSM1165253,COSM313242	3/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.109)	.	tolerated(1)	0,1,1	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Arg93Leu,ENST00000361589,;NLGN1,missense_variant,p.Arg93Leu,ENST00000415045,;NLGN1,missense_variant,p.Arg93Leu,ENST00000401917,;NLGN1,missense_variant,p.Arg93Leu,ENST00000457714,;NLGN1,missense_variant,p.Arg93Leu,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000413821,;NLGN1,downstream_gene_variant,,ENST00000423427,;	707	95	88	SUCCESS
NLGN1	22871	.	GRCh37	3	173525610	173525610	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	48	123	0	ENST00000457714.1:c.634C>A	p.Leu212Ile	p.L212I	ENST00000457714	NM_014932.3	212	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3222.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGACTTGGA	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.06)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Leu212Ile,ENST00000361589,;NLGN1,missense_variant,p.Leu252Ile,ENST00000415045,;NLGN1,missense_variant,p.Leu252Ile,ENST00000401917,;NLGN1,missense_variant,p.Leu212Ile,ENST00000457714,;NLGN1,missense_variant,p.Leu212Ile,ENST00000545397,;	1063	123	91	SUCCESS
SNORA4	619568	.	GRCh37	3	186505444	186505444	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	62	0	ENST00000584302.1:n.44T>G		p.*15*	ENST00000584302	NR_002588.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3282.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAACCTTTGCC	NONE	.	.	.	.	.	ENSP00000326381	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODIFIER	9/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,intron_variant,,ENST00000323963,;EIF4A2,intron_variant,,ENST00000356531,;EIF4A2,intron_variant,,ENST00000440191,;RFC4,downstream_gene_variant,,ENST00000418288,;RFC4,downstream_gene_variant,,ENST00000296273,;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000441007,;EIF4A2,downstream_gene_variant,,ENST00000498746,;RFC4,downstream_gene_variant,,ENST00000392481,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA4,non_coding_transcript_exon_variant,,ENST00000584302,;SNORA81,downstream_gene_variant,,ENST00000408493,;SNORA63,downstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,;SNORA63,downstream_gene_variant,,ENST00000363450,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000468362,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,intron_variant,,ENST00000497177,;EIF4A2,intron_variant,,ENST00000426808,;EIF4A2,intron_variant,,ENST00000443963,;EIF4A2,intron_variant,,ENST00000429589,;EIF4A2,intron_variant,,ENST00000492144,;EIF4A2,intron_variant,,ENST00000461021,;EIF4A2,intron_variant,,ENST00000425053,;EIF4A2,intron_variant,,ENST00000494445,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,downstream_gene_variant,,ENST00000475409,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000465267,;EIF4A2,downstream_gene_variant,,ENST00000486805,;EIF4A2,downstream_gene_variant,,ENST00000475653,;RFC4,downstream_gene_variant,,ENST00000460408,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,downstream_gene_variant,,ENST00000465792,;EIF4A2,downstream_gene_variant,,ENST00000466362,;RFC4,downstream_gene_variant,,ENST00000494047,;RFC4,downstream_gene_variant,,ENST00000449502,;	.	62	43	SUCCESS
RNF168	165918	.	GRCh37	3	196229935	196229935	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	70	0	ENST00000318037.3:c.110A>G	p.Lys37Arg	p.K37R	ENST00000318037	NM_152617.3	37	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3317.1	110	RADIA|VARSCANS	.	ACGGTTTACAC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR23328:SF1,hmmpanther:PTHR23328,Pfam_domain:PF13923,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000320898	.	1/6	.	.	.	.	.	.	.	.	COSM4116397	1/6	PASS	ENST00000318037	Transcript	.	.	ENSG00000163961	26661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.006)	.	deleterious(0.05)	1	RN168_HUMAN	RNF168	HGNC	.	.	UPI00000741D1	SNV	RNF168,missense_variant,p.Lys37Arg,ENST00000318037,;SMCO1,downstream_gene_variant,,ENST00000397537,;RNF168,missense_variant,p.Lys37Arg,ENST00000437070,;SMCO1,downstream_gene_variant,,ENST00000452776,;	705	70	39	SUCCESS
OSBPL10	114884	.	GRCh37	3	31705616	31705616	+	synonymous_variant	Silent	SNP	G	G	A	rs1419362955	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	54	0	ENST00000396556.2:c.2205C>T	p.Arg735=	p.R735=	ENST00000396556	NM_017784.4	735	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2651.1	2205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGCGCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47,Pfam_domain:PF01237,Superfamily_domains:0051579	.	.	ENSP00000379804	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000396556	Transcript	.	.	ENSG00000144645	16395	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSB10_HUMAN	OSBPL10	HGNC	.	.	UPI0000130E9B	SNV	OSBPL10,synonymous_variant,p.%3D,ENST00000438237,;OSBPL10,synonymous_variant,p.%3D,ENST00000396556,;OSBPL10,synonymous_variant,p.%3D,ENST00000429492,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000469557,;	2328	54	54	SUCCESS
TRNT1	51095	.	GRCh37	3	3186326	3186329	+	frameshift_variant	Frame_Shift_Del	DEL	AGTT	AGTT	-	rs769317780	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	AGTT	AGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	108	25	176	0	ENST00000251607.6:c.542_545del	p.Val181AspfsTer18	p.V181Dfs*18	ENST00000251607	NM_182916.2	180	aaAGTT/aa	0	-:0	.	.	.	.	-	KV/X	protein_coding	YES	CCDS2561.2	540-543	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAGAAAGTTAGATT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81891,Pfam_domain:PF01743,hmmpanther:PTHR13734,Gene3D:1.10.3090.10,hmmpanther:PTHR13734:SF5	.	-:0.0001	ENSP00000251607	.	5/8	.	.	.	.	.	.	.	.	rs769317780	5/8	PASS	ENST00000251607	Transcript	.	.	ENSG00000072756	17341	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRNT1_HUMAN	TRNT1	HGNC	C9JRS7_HUMAN	.	UPI000013CD08	deletion	TRNT1,frameshift_variant,p.Val181AspfsTer18,ENST00000251607,;TRNT1,frameshift_variant,p.Val181AspfsTer18,ENST00000280591,;TRNT1,frameshift_variant,p.Val181AspfsTer18,ENST00000434583,;CRBN,downstream_gene_variant,,ENST00000491834,;TRNT1,downstream_gene_variant,,ENST00000482311,;	642-645	176	133	SUCCESS
CHL1	10752	.	GRCh37	3	423911	423911	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763642714	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	84	0	ENST00000397491.2:c.1878G>T	p.Arg626Ser	p.R626S	ENST00000397491		626	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS2556.1	1926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGGAGTGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726	.	.	ENSP00000256509	.	17/28	.	.	.	.	.	.	.	.	rs763642714,COSM3594041	17/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.944)	.	deleterious(0)	0,1	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Arg626Ser,ENST00000397491,;CHL1,missense_variant,p.Arg642Ser,ENST00000256509,;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1,non_coding_transcript_exon_variant,,ENST00000470880,;CHL1,non_coding_transcript_exon_variant,,ENST00000470005,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	2568	84	71	SUCCESS
BSN	8927	.	GRCh37	3	49694892	49694892	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762860512	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	51	0	ENST00000296452.4:c.7903C>T	p.Arg2635Cys	p.R2635C	ENST00000296452	NM_003458.3	2635	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2800.1	7903	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	TTCCCCGCCAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	rs762860512	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Arg2635Cys,ENST00000296452,;	8017	51	30	SUCCESS
RNF123	63891	.	GRCh37	3	49753579	49753579	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	25	0	ENST00000327697.6:c.3384G>C	p.Leu1128=	p.L1128=	ENST00000327697	NM_022064.3	1128	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33758.1	3384	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTGTTTGA	NONE	.	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	.	ENSP00000328287	.	34/39	.	.	.	.	.	.	.	.	.	34/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,synonymous_variant,p.%3D,ENST00000327697,;RNF123,synonymous_variant,p.%3D,ENST00000433785,;RNF123,downstream_gene_variant,,ENST00000432042,;AMIGO3,downstream_gene_variant,,ENST00000320431,;GMPPB,downstream_gene_variant,,ENST00000480687,;GMPPB,downstream_gene_variant,,ENST00000308375,;AMIGO3,downstream_gene_variant,,ENST00000535833,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000444689,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;	3528	25	38	SUCCESS
ARPC4-TTLL3	100526693	.	GRCh37	3	9870684	9870685	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	32	0	ENST00000397256.1:c.1344_1345del	p.Asn449LeufsTer16	p.N449Lfs*16	ENST00000397256	NM_001198793.1	448	GAg/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS43048.2	1588-1589	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCTGGAGAACT	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF92,Pfam_domain:PF03133	.	.	ENSP00000392549	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000426895	Transcript	.	.	ENSG00000214021	24483	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TTLL3	HGNC	J3KQB2_HUMAN,C9JW59_HUMAN,C9JQ30_HUMAN	.	UPI0001B79456	deletion	TTLL3,frameshift_variant,p.Asn176LeufsTer16,ENST00000430793,;TTLL3,frameshift_variant,p.Asn344LeufsTer16,ENST00000310252,;ARPC4-TTLL3,frameshift_variant,p.Asn449LeufsTer16,ENST00000397256,;TTLL3,frameshift_variant,p.Asn531LeufsTer16,ENST00000426895,;TTLL3,frameshift_variant,p.Asn326LeufsTer16,ENST00000443148,;TTLL3,frameshift_variant,p.Asn176LeufsTer16,ENST00000427853,;TTLL3,frameshift_variant,p.Asn176LeufsTer16,ENST00000455274,;TTLL3,frameshift_variant,p.Asn176LeufsTer16,ENST00000383827,;TTLL3,frameshift_variant,p.Asn176LeufsTer16,ENST00000397241,;TTLL3,frameshift_variant,p.Asn388LeufsTer16,ENST00000547186,;TTLL3,upstream_gene_variant,,ENST00000471058,;TTLL3,downstream_gene_variant,,ENST00000452823,;TTLL3,non_coding_transcript_exon_variant,,ENST00000466245,;TTLL3,frameshift_variant,p.Asn176LeufsTer16,ENST00000438141,;TTLL3,3_prime_UTR_variant,,ENST00000427220,;TTLL3,3_prime_UTR_variant,,ENST00000431204,;TTLL3,3_prime_UTR_variant,,ENST00000473661,;TTLL3,3_prime_UTR_variant,,ENST00000430390,;TTLL3,non_coding_transcript_exon_variant,,ENST00000496526,;TTLL3,non_coding_transcript_exon_variant,,ENST00000482269,;TTLL3,non_coding_transcript_exon_variant,,ENST00000483051,;TTLL3,downstream_gene_variant,,ENST00000492440,;	1607-1608	32	41	SUCCESS
ZNF827	152485	.	GRCh37	4	146859553	146859553	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	60	141	0	ENST00000508784.1:c.7A>T	p.Arg3Trp	p.R3W	ENST00000508784		3	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS34072.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTGGGCA	NONE	.	.	.	.	.	ENSP00000368761	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	deleterious_low_confidence(0)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Arg3Trp,ENST00000508784,;ZNF827,missense_variant,p.Arg3Trp,ENST00000379448,;ZNF827,missense_variant,p.Arg3Trp,ENST00000513320,;	71	141	86	SUCCESS
CD38	952	.	GRCh37	4	15839760	15839760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	31	48	0	ENST00000226279.3:c.631T>C	p.Ser211Pro	p.S211P	ENST00000226279	NM_001775.2	211	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3417.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATCCCGC	NONE	.	.	hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF5,Gene3D:3.40.50.720,Pfam_domain:PF02267,Superfamily_domains:SSF52309	.	.	ENSP00000226279	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000226279	Transcript	.	.	ENSG00000004468	1667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD38_HUMAN	CD38	HGNC	Q4FCX6_HUMAN,B4DMR7_HUMAN	.	UPI00000739C2	SNV	CD38,missense_variant,p.Ser99Pro,ENST00000510674,;CD38,missense_variant,p.Ser211Pro,ENST00000226279,;CD38,3_prime_UTR_variant,,ENST00000502843,;	768	48	47	SUCCESS
PDLIM3	27295	.	GRCh37	4	186425735	186425735	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs373419233	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	15	33	0	ENST00000284770.5:c.799C>G	p.Arg267Gly	p.R267G	ENST00000284770	NM_014476.5	267	Cgt/Ggt	0	A:0.0002	.	.	.	.	C	R/G	protein_coding	YES	CCDS3844.1	799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACGGTCAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24214:SF7,hmmpanther:PTHR24214	.	A:0	ENSP00000284770	.	7/8	.	.	.	.	.	.	.	.	rs373419233	7/8	PASS	ENST00000284770	Transcript	.	.	ENSG00000154553	20767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	PDLI3_HUMAN	PDLIM3	HGNC	.	.	UPI000013DDB6	SNV	PDLIM3,missense_variant,p.Arg219Gly,ENST00000284771,;PDLIM3,missense_variant,p.Arg267Gly,ENST00000284770,;PDLIM3,3_prime_UTR_variant,,ENST00000284767,;PDLIM3,3_prime_UTR_variant,,ENST00000505886,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000514142,;PDLIM3,non_coding_transcript_exon_variant,,ENST00000514308,;PDLIM3,downstream_gene_variant,,ENST00000512293,;	873	33	17	SUCCESS
WHSC1	0	.	GRCh37	4	1957733	1957733	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	12	92	0	ENST00000382895.3:c.2699A>G	p.His900Arg	p.H900R	ENST00000382895	NM_133330.2	900	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33940.1	2699	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCATCCCA	NONE	.	.	PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Pfam_domain:PF00855,Gene3D:2.30.30.160,SMART_domains:SM00293,Superfamily_domains:SSF63748	.	.	ENSP00000372351	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,missense_variant,p.His900Arg,ENST00000508803,;WHSC1,missense_variant,p.His248Arg,ENST00000382888,;WHSC1,missense_variant,p.His900Arg,ENST00000382892,;WHSC1,missense_variant,p.His900Arg,ENST00000382895,;WHSC1,missense_variant,p.His900Arg,ENST00000382891,;WHSC1,missense_variant,p.His224Arg,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000503207,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000513726,;WHSC1,downstream_gene_variant,,ENST00000502425,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,non_coding_transcript_exon_variant,,ENST00000507094,;WHSC1,downstream_gene_variant,,ENST00000511904,;AL132868.1,downstream_gene_variant,,ENST00000327785,;	3130	92	80	SUCCESS
RBM47	54502	.	GRCh37	4	40440519	40440519	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	47	0	ENST00000295971.7:c.392T>C	p.Leu131Pro	p.L131P	ENST00000295971	NM_001098634.1	131	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS43223.1	392	RADIA|VARSCANS	.	TGTTGAGCTCA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000371212	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000381793	Transcript	.	.	ENSG00000163694	30358	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	RBM47_HUMAN	RBM47	HGNC	D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN	.	UPI000020BBEC	SNV	RBM47,missense_variant,p.Leu131Pro,ENST00000514782,;RBM47,missense_variant,p.Leu131Pro,ENST00000513473,;RBM47,missense_variant,p.Leu131Pro,ENST00000319592,;RBM47,missense_variant,p.Leu131Pro,ENST00000515053,;RBM47,missense_variant,p.Leu131Pro,ENST00000505414,;RBM47,missense_variant,p.Leu131Pro,ENST00000381795,;RBM47,missense_variant,p.Leu93Pro,ENST00000514014,;RBM47,missense_variant,p.Leu131Pro,ENST00000381793,;RBM47,missense_variant,p.Leu131Pro,ENST00000295971,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Leu131Pro,ENST00000510871,;	789	47	36	SUCCESS
GRXCR1	389207	.	GRCh37	4	42895631	42895631	+	synonymous_variant	Silent	SNP	C	C	T	rs778007626	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	43	1	ENST00000399770.2:c.348C>T	p.Gly116=	p.G116=	ENST00000399770	NM_001080476.2	116	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43225.1	348	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTGGCCAGGC	NONE	byFrequency	.	hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	1/4	.	.	.	.	.	.	.	.	rs778007626	1/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,synonymous_variant,p.%3D,ENST00000399770,;RN7SKP82,downstream_gene_variant,,ENST00000516786,;	348	44	18	SUCCESS
PCGF3	10336	.	GRCh37	4	727952	727952	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	68	0	ENST00000362003.5:c.109+374G>A		p.*37*	ENST00000362003	NM_006315.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3339.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGTGCGT	NONE	.	.	.	.	.	ENSP00000354724	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362003	Transcript	.	.	ENSG00000185619	10066	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCGF3_HUMAN	PCGF3	HGNC	C9JYD0_HUMAN,C9JGV3_HUMAN,C9J3G7_HUMAN,B4DTN5_HUMAN	.	UPI00001A9628	SNV	PCGF3,missense_variant,p.Met161Ile,ENST00000400151,;PCGF3,5_prime_UTR_variant,,ENST00000521023,;PCGF3,intron_variant,,ENST00000427463,;PCGF3,intron_variant,,ENST00000419774,;PCGF3,intron_variant,,ENST00000505655,;PCGF3,intron_variant,,ENST00000362003,;PCGF3,intron_variant,,ENST00000433814,;PCGF3,intron_variant,,ENST00000470161,;PCGF3,intron_variant,,ENST00000482726,;PCGF3,3_prime_UTR_variant,,ENST00000440452,;PCGF3,3_prime_UTR_variant,,ENST00000430644,;PCGF3,intron_variant,,ENST00000484141,;PCGF3,downstream_gene_variant,,ENST00000475288,;	.	68	69	SUCCESS
ALB	213	.	GRCh37	4	74283297	74283298	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	33	36	94	0	ENST00000295897.4:c.1341dup	p.Val448CysfsTer16	p.V448Cfs*16	ENST00000295897	NM_000477.5	447	ctt/cTtt	0	.	.	.	.	.	T	L/LX	protein_coding	YES	CCDS3555.1	1339-1340	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACTCTTGTA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.Val448CysfsTer16,ENST00000509063,;ALB,frameshift_variant,p.Val293CysfsTer16,ENST00000511370,;ALB,frameshift_variant,p.Val256CysfsTer16,ENST00000415165,;ALB,frameshift_variant,p.Val448CysfsTer16,ENST00000295897,;ALB,frameshift_variant,p.Val298CysfsTer16,ENST00000503124,;ALB,frameshift_variant,p.Val333CysfsTer16,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000504043,;	1428-1429	94	69	SUCCESS
ALB	213	.	GRCh37	4	74283386	74283387	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TG	TG	-	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	51	0	ENST00000295897.4:c.1428+2_1428+3del		p.X476_splice	ENST00000295897	NM_000477.5	476		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	1428-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTATGTGAGT	NONE	.	.	.	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	HIGH	11/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1517-?	51	36	SUCCESS
DMXL1	1657	.	GRCh37	5	118485268	118485268	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	30	54	0	ENST00000311085.8:c.3746C>T	p.Pro1249Leu	p.P1249L	ENST00000311085	NM_005509.4	1249	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4125.1	3746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCTGTTA	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	18/43	.	.	.	.	.	.	.	.	.	18/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.4)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Pro1249Leu,ENST00000539542,;DMXL1,missense_variant,p.Pro1249Leu,ENST00000311085,;DMXL1,downstream_gene_variant,,ENST00000512281,;	3826	54	50	SUCCESS
PRR16	51334	.	GRCh37	5	120022233	120022233	+	synonymous_variant	Silent	SNP	C	C	T	rs1199871647	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	25	84	1	ENST00000407149.2:c.744C>T	p.Gly248=	p.G248=	ENST00000407149		248	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4127.1	675	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAAGGCCCTCC	NONE	.	.	hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,synonymous_variant,p.%3D,ENST00000407149,;PRR16,synonymous_variant,p.%3D,ENST00000446965,;PRR16,synonymous_variant,p.%3D,ENST00000505123,;PRR16,synonymous_variant,p.%3D,ENST00000379551,;PRR16,downstream_gene_variant,,ENST00000509923,;	1032	86	106	SUCCESS
FBN2	2201	.	GRCh37	5	127730952	127730952	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	28	0	ENST00000262464.4:c.1094T>C	p.Met365Thr	p.M365T	ENST00000262464	NM_001999.3	365	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS34222.1	1094	RADIA|VARSCANS	.	AACACATGCCT	NONE	.	.	Superfamily_domains:SSF57581,Superfamily_domains:SSF57184,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	15/71	.	.	.	.	.	.	.	.	.	15/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Met365Thr,ENST00000262464,;FBN2,missense_variant,p.Met365Thr,ENST00000508053,;FBN2,missense_variant,p.Met332Thr,ENST00000508989,;	2069	28	33	SUCCESS
FSTL4	23105	.	GRCh37	5	132585166	132585166	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	63	0	ENST00000265342.7:c.830G>A	p.Arg277Lys	p.R277K	ENST00000265342	NM_015082.1	277	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS34238.1	830	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCTCAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF9,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000265342	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000265342	Transcript	.	.	ENSG00000053108	21389	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.536)	.	tolerated(0.08)	.	FSTL4_HUMAN	FSTL4	HGNC	.	.	UPI000003AFB0	SNV	FSTL4,missense_variant,p.Arg277Lys,ENST00000265342,;CTB-49A3.5,downstream_gene_variant,,ENST00000515122,;CTB-49A3.5,downstream_gene_variant,,ENST00000504312,;FSTL4,non_coding_transcript_exon_variant,,ENST00000507112,;	1080	63	76	SUCCESS
DNAJC18	202052	.	GRCh37	5	138764241	138764241	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1033770326	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	53	0	ENST00000302060.5:c.359C>A	p.Thr120Lys	p.T120K	ENST00000302060	NM_152686.3	120	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS4214.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGTTGCT	NONE	.	.	Prints_domain:PR00625,Superfamily_domains:SSF46565,SMART_domains:SM00271,Gene3D:1.10.287.110,Pfam_domain:PF00226,hmmpanther:PTHR24078:SF15,hmmpanther:PTHR24078,PROSITE_profiles:PS50076	.	.	ENSP00000302843	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000302060	Transcript	.	.	ENSG00000170464	28429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	DJC18_HUMAN	DNAJC18	HGNC	D6REJ9_HUMAN,D6RCS7_HUMAN,D6RB03_HUMAN	.	UPI00000375B2	SNV	DNAJC18,missense_variant,p.Thr120Lys,ENST00000515277,;DNAJC18,missense_variant,p.Thr120Lys,ENST00000515581,;DNAJC18,missense_variant,p.Thr120Lys,ENST00000302060,;DNAJC18,upstream_gene_variant,,ENST00000508445,;DNAJC18,upstream_gene_variant,,ENST00000514052,;DNAJC18,non_coding_transcript_exon_variant,,ENST00000507405,;DNAJC18,3_prime_UTR_variant,,ENST00000505568,;DNAJC18,intron_variant,,ENST00000506870,;	440	53	70	SUCCESS
SPINK9	643394	.	GRCh37	5	147718126	147718126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	314	120	325	0	ENST00000377906.1:c.173G>T	p.Gly58Val	p.G58V	ENST00000377906	NM_001040433.1	58	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34269.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGCAAAA	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR21312,hmmpanther:PTHR21312:SF25,PROSITE_patterns:PS00282,Gene3D:1.10.1890.10,Pfam_domain:PF00050,SMART_domains:SM00280,Superfamily_domains:SSF100895,Prints_domain:PR00290	.	.	ENSP00000367139	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000377906	Transcript	.	.	ENSG00000204909	32951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	ISK9_HUMAN	SPINK9	HGNC	.	.	UPI000004CA7E	SNV	SPINK9,missense_variant,p.Gly79Val,ENST00000511717,;SPINK9,missense_variant,p.Gly58Val,ENST00000377906,;RP11-373N22.3,intron_variant,,ENST00000501695,;	228	326	434	SUCCESS
SPEF2	79925	.	GRCh37	5	35618118	35618118	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	12	81	0	ENST00000356031.3:c.19C>T	p.Gln7Ter	p.Q7*	ENST00000356031	NM_024867.3	7	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS43309.1	19	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCAGTGG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Pfam_domain:PF06294	.	.	ENSP00000348314	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,stop_gained,p.Gln7Ter,ENST00000440995,;SPEF2,stop_gained,p.Gln7Ter,ENST00000510777,;SPEF2,stop_gained,p.Gln7Ter,ENST00000509059,;SPEF2,stop_gained,p.Gln7Ter,ENST00000282469,;SPEF2,stop_gained,p.Gln7Ter,ENST00000356031,;SPEF2,stop_gained,p.Gln7Ter,ENST00000505847,;SPEF2,non_coding_transcript_exon_variant,,ENST00000505088,;	173	81	102	SUCCESS
ZNF131	7690	.	GRCh37	5	43161948	43161948	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	67	154	0	ENST00000509156.1:c.969T>C	p.Thr323=	p.T323=	ENST00000509156		323	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS43313.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTGGGAA	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,hmmpanther:PTHR10032:SF26,hmmpanther:PTHR10032	.	.	ENSP00000421246	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000509634	Transcript	.	.	ENSG00000172262	12915	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN131_HUMAN	ZNF131	HGNC	D6RFI6_HUMAN,D6RBK1_HUMAN,D6RAT8_HUMAN,D6R9I2_HUMAN	.	UPI000013F57D	SNV	ZNF131,synonymous_variant,p.%3D,ENST00000509634,;ZNF131,synonymous_variant,p.%3D,ENST00000399534,;ZNF131,synonymous_variant,p.%3D,ENST00000306938,;ZNF131,synonymous_variant,p.%3D,ENST00000509156,;ZNF131,synonymous_variant,p.%3D,ENST00000505606,;ZNF131,intron_variant,,ENST00000509931,;ZNF131,downstream_gene_variant,,ENST00000515326,;ZNF131,downstream_gene_variant,,ENST00000509341,;ZNF131,downstream_gene_variant,,ENST00000508259,;ZNF131,downstream_gene_variant,,ENST00000504359,;ZNF131,synonymous_variant,p.%3D,ENST00000502623,;ZNF131,3_prime_UTR_variant,,ENST00000510026,;ZNF131,3_prime_UTR_variant,,ENST00000507218,;ZNF131,intron_variant,,ENST00000511736,;	1323	154	126	SUCCESS
ELL2	22936	.	GRCh37	5	95226823	95226823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	74	107	0	ENST00000237853.4:c.1745G>T	p.Gly582Val	p.G582V	ENST00000237853	NM_012081.5	582	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4080.1	1745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGCCTGGA	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288,Pfam_domain:PF07303,Superfamily_domains:0053542	.	.	ENSP00000237853	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,missense_variant,p.Gly332Val,ENST00000431061,;ELL2,missense_variant,p.Gly100Val,ENST00000508757,;ELL2,missense_variant,p.Gly582Val,ENST00000237853,;	2095	107	124	SUCCESS
TCP1	6950	.	GRCh37	6	160206479	160206479	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	62	0	ENST00000321394.7:c.427C>G	p.Leu143Val	p.L143V	ENST00000321394	NM_030752.2	143	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS5269.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGTTCAT	NONE	.	.	hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02340,Pfam_domain:PF00118	.	.	ENSP00000317334	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000321394	Transcript	.	.	ENSG00000120438	11655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	tolerated(0.06)	.	TCPA_HUMAN	TCP1	HGNC	F5H726_HUMAN,F5H676_HUMAN,F5H282_HUMAN,F5H136_HUMAN,E7EQR6_HUMAN	.	UPI0000136AEA	SNV	TCP1,missense_variant,p.Leu121Val,ENST00000539948,;TCP1,missense_variant,p.Leu143Val,ENST00000321394,;TCP1,missense_variant,p.Leu23Val,ENST00000538128,;TCP1,missense_variant,p.Leu143Val,ENST00000420894,;TCP1,5_prime_UTR_variant,,ENST00000392168,;TCP1,intron_variant,,ENST00000544255,;TCP1,intron_variant,,ENST00000539756,;TCP1,downstream_gene_variant,,ENST00000536394,;TCP1,downstream_gene_variant,,ENST00000537390,;SNORA29,downstream_gene_variant,,ENST00000384183,;TCP1,intron_variant,,ENST00000543532,;MRPL18,upstream_gene_variant,,ENST00000476826,;MRPL18,upstream_gene_variant,,ENST00000479638,;TCP1,downstream_gene_variant,,ENST00000546023,;TCP1,3_prime_UTR_variant,,ENST00000538530,;TCP1,3_prime_UTR_variant,,ENST00000543517,;TCP1,non_coding_transcript_exon_variant,,ENST00000467544,;TCP1,non_coding_transcript_exon_variant,,ENST00000545764,;TCP1,downstream_gene_variant,,ENST00000536607,;TCP1,upstream_gene_variant,,ENST00000536807,;	708	62	43	SUCCESS
PRL	5617	.	GRCh37	6	22294684	22294684	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	48	114	0	ENST00000306482.1:c.158T>A	p.Leu53Gln	p.L53Q	ENST00000306482	NM_000948.5	53	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS4548.1	158	RADIA|MUTECT|MUSE|VARSCANS	.	GGGACAGGACG	NONE	.	.	hmmpanther:PTHR11417:SF5,hmmpanther:PTHR11417,Pfam_domain:PF00103,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000302150	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000306482	Transcript	.	.	ENSG00000172179	9445	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.07)	.	PRL_HUMAN	PRL	HGNC	Q5THQ0_HUMAN,Q5I0G2_HUMAN	.	UPI0000001C13	SNV	PRL,missense_variant,p.Leu53Gln,ENST00000306482,;RP3-404K8.2,intron_variant,,ENST00000561912,;	677	114	240	SUCCESS
MYLK4	340156	.	GRCh37	6	2685624	2685624	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs796052168	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	69	0	ENST00000274643.7:c.451G>A	p.Glu151Lys	p.E151K	ENST00000274643	NM_001012418.3	151	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS34330.1	451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCGTTCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF119,hmmpanther:PTHR24347,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000274643	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000274643	Transcript	.	.	ENSG00000145949	27972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MYLK4_HUMAN	MYLK4	HGNC	.	.	UPI00000498AE	SNV	MYLK4,missense_variant,p.Glu151Lys,ENST00000274643,;MYLK4,missense_variant,p.Glu151Lys,ENST00000268446,;	794	69	85	SUCCESS
MDC1	9656	.	GRCh37	6	30681089	30681089	+	synonymous_variant	Silent	SNP	C	C	T	rs753850236	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	26	0	ENST00000376406.3:c.630G>A	p.Pro210=	p.P210=	ENST00000376406	NM_014641.2	210	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS34384.1	630	MUTECT|VARSCANS	.	AAAGGCGGCCC	NONE	byFrequency	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	5/15	.	.	.	.	.	.	.	.	rs753850236	5/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,synonymous_variant,p.%3D,ENST00000376405,;MDC1,synonymous_variant,p.%3D,ENST00000376406,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,downstream_gene_variant,,ENST00000425072,;MDC1,upstream_gene_variant,,ENST00000417033,;MDC1,downstream_gene_variant,,ENST00000416571,;MDC1-AS1,downstream_gene_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000494654,;	1278	26	22	SUCCESS
CDKN1A	1026	.	GRCh37	6	36651880	36651880	+	start_lost	Translation_Start_Site	SNP	T	T	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	40	44	0	ENST00000244741.5:c.2T>G	p.Met1?	p.M1?	ENST00000244741	NM_000389.4	1	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS4824.1	2	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCCATGTCAG	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious_low_confidence(0)	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,start_lost,p.Met1?,ENST00000244741,;CDKN1A,start_lost,p.Met1?,ENST00000373711,;CDKN1A,start_lost,p.Met1?,ENST00000405375,;CDKN1A,missense_variant,p.Met35Arg,ENST00000448526,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	237	44	42	SUCCESS
CDKN1A	1026	.	GRCh37	6	36651881	36651881	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	39	43	0	ENST00000244741.5:c.3G>T	p.Met1?	p.M1?	ENST00000244741	NM_000389.4	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4824.1	3	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCCATGTCAGA	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.937)	.	deleterious_low_confidence(0)	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,start_lost,p.Met1?,ENST00000244741,;CDKN1A,start_lost,p.Met1?,ENST00000373711,;CDKN1A,start_lost,p.Met1?,ENST00000405375,;CDKN1A,missense_variant,p.Met35Ile,ENST00000448526,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	238	43	42	SUCCESS
CRIP3	401262	.	GRCh37	6	43274043	43274043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	44	39	0	ENST00000274990.4:c.409G>A	p.Val137Met	p.V137M	ENST00000274990		137	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS4894.2	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACCTTCT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.548)	.	deleterious(0.01)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Val9Met,ENST00000451294,;CRIP3,missense_variant,p.Val61Met,ENST00000416431,;CRIP3,missense_variant,p.Val137Met,ENST00000274990,;CRIP3,missense_variant,p.Val137Met,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	414	39	47	SUCCESS
CRIP3	401262	.	GRCh37	6	43274045	43274045	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755721027	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	40	40	0	ENST00000274990.4:c.407A>T	p.Lys136Met	p.K136M	ENST00000274990		136	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS4894.2	407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTTCTCA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	rs755721027	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	deleterious(0)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Lys8Met,ENST00000451294,;CRIP3,missense_variant,p.Lys60Met,ENST00000416431,;CRIP3,missense_variant,p.Lys136Met,ENST00000274990,;CRIP3,missense_variant,p.Lys136Met,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	412	40	43	SUCCESS
CRIP3	401262	.	GRCh37	6	43274046	43274046	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	41	41	0	ENST00000274990.4:c.406A>G	p.Lys136Glu	p.K136E	ENST00000274990		136	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4894.2	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTCTCAG	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	deleterious(0.03)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Lys8Glu,ENST00000451294,;CRIP3,missense_variant,p.Lys60Glu,ENST00000416431,;CRIP3,missense_variant,p.Lys136Glu,ENST00000274990,;CRIP3,missense_variant,p.Lys136Glu,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000485819,;ZNF318,downstream_gene_variant,,ENST00000605935,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	411	41	43	SUCCESS
GPR115	0	.	GRCh37	6	47681793	47681793	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	53	0	ENST00000283303.2:c.812G>A	p.Gly271Glu	p.G271E	ENST00000283303	NM_153838.3	271	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS4922.2	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGGAATGG	NONE	.	.	hmmpanther:PTHR12011:SF229,hmmpanther:PTHR12011	.	.	ENSP00000283303	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000283303	Transcript	.	.	ENSG00000153294	19011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	GP115_HUMAN	GPR115	HGNC	.	.	UPI000046FF2B	SNV	GPR115,missense_variant,p.Gly271Glu,ENST00000283303,;GPR115,missense_variant,p.Gly271Glu,ENST00000327753,;GPR115,missense_variant,p.Gly328Glu,ENST00000371220,;RN7SKP116,upstream_gene_variant,,ENST00000516902,;	1070	53	85	SUCCESS
PKHD1	5314	.	GRCh37	6	51824795	51824795	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1278736824	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	11	52	0	ENST00000371117.3:c.5781A>T	p.Arg1927Ser	p.R1927S	ENST00000371117	NM_138694.3	1927	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4935.1	5781	RADIA|MUTECT|MUSE|VARSCANS	.	GACCATCTCCG	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	36/67	.	.	.	.	.	.	.	.	.	36/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.714)	.	deleterious(0.01)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Arg1927Ser,ENST00000340994,;PKHD1,missense_variant,p.Arg1927Ser,ENST00000371117,;	6057	52	111	SUCCESS
EXOC2	55770	.	GRCh37	6	592543	592543	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	47	0	ENST00000230449.4:c.1118G>A	p.Cys373Tyr	p.C373Y	ENST00000230449	NM_018303.5	373	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS34327.1	1118	RADIA|MUTECT|MUSE|VARSCANS	.	CAATGCATTGC	NONE	.	.	hmmpanther:PTHR13043,Pfam_domain:PF15469	.	.	ENSP00000230449	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000230449	Transcript	.	.	ENSG00000112685	24968	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	EXOC2_HUMAN	EXOC2	HGNC	Q2MDF5_HUMAN,G8JLK9_HUMAN	.	UPI000003E7E3	SNV	EXOC2,missense_variant,p.Cys373Tyr,ENST00000230449,;EXOC2,intron_variant,,ENST00000448181,;	1254	47	81	SUCCESS
HTR1B	3351	.	GRCh37	6	78172410	78172410	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	16	35	0	ENST00000369947.2:c.711C>T	p.Ser237=	p.S237=	ENST00000369947	NM_000863.1	237	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4986.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGGGAGCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF16,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000358963	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369947	Transcript	.	.	ENSG00000135312	5287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT1B_HUMAN	HTR1B	HGNC	.	.	UPI00000007CB	SNV	HTR1B,synonymous_variant,p.%3D,ENST00000369947,;	1081	35	20	SUCCESS
GPR63	81491	.	GRCh37	6	97246970	97246970	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	55	0	ENST00000229955.3:c.638T>C	p.Leu213Ser	p.L213S	ENST00000229955	NM_030784.3	213	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS5036.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTAAAGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.55)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Leu213Ser,ENST00000417980,;GPR63,missense_variant,p.Leu213Ser,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	984	55	24	SUCCESS
DGKB	1607	.	GRCh37	7	14216380	14216380	+	intron_variant	Intron	DEL	A	A	-	rs1416293711	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	27	0	ENST00000399322.3:c.2307+84del		p.*769*	ENST00000399322	NM_004080.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47547.1	.	VARSCANI*|PINDEL	.	ATAAAGAAAAAA	NONE	.	.	.	.	.	ENSP00000385780	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403951	Transcript	.	.	ENSG00000136267	2850	.	.	MODIFIER	25/25	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DGKB_HUMAN	DGKB	HGNC	C9JA18_HUMAN,B7Z3B3_HUMAN	.	UPI0000033B9B	deletion	DGKB,3_prime_UTR_variant,,ENST00000406247,;DGKB,intron_variant,,ENST00000403951,;DGKB,intron_variant,,ENST00000258767,;DGKB,intron_variant,,ENST00000444700,;DGKB,intron_variant,,ENST00000407950,;DGKB,intron_variant,,ENST00000402815,;DGKB,intron_variant,,ENST00000399322,;DGKB,intron_variant,,ENST00000493142,;	.	27	37	SUCCESS
INSIG1	3638	.	GRCh37	7	155094019	155094019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	38	210	0	ENST00000340368.4:c.596G>A	p.Gly199Asp	p.G199D	ENST00000340368	NM_005542.4	199	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS5938.1	596	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGCCTTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15301:SF11,hmmpanther:PTHR15301,Pfam_domain:PF07281	.	.	ENSP00000344741	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000340368	Transcript	.	.	ENSG00000186480	6083	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INSI1_HUMAN	INSIG1	HGNC	C9JSG8_HUMAN	.	UPI00000015DE	SNV	INSIG1,missense_variant,p.Gly47Asp,ENST00000344756,;INSIG1,missense_variant,p.Gly199Asp,ENST00000340368,;INSIG1,missense_variant,p.Gly108Asp,ENST00000476756,;INSIG1,intron_variant,,ENST00000342407,;INSIG1,downstream_gene_variant,,ENST00000425172,;AC144652.1,upstream_gene_variant,,ENST00000609974,;INSIG1,non_coding_transcript_exon_variant,,ENST00000468307,;	807	210	180	SUCCESS
HOXA5	3202	.	GRCh37	7	27182734	27182734	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	45	0	ENST00000222726.3:c.493G>T	p.Glu165Ter	p.E165*	ENST00000222726	NM_019102.3	165	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5406.1	493	RADIA|VARSCANS	.	CGGCTCGCTCT	NONE	.	.	hmmpanther:PTHR24326:SF166,hmmpanther:PTHR24326,Low_complexity_(Seg):seg	.	.	ENSP00000222726	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222726	Transcript	.	.	ENSG00000106004	5106	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXA5_HUMAN	HOXA5	HGNC	.	.	UPI000006CEBE	SNV	HOXA5,stop_gained,p.Glu165Ter,ENST00000222726,;HOXA3,upstream_gene_variant,,ENST00000522788,;HOXA6,downstream_gene_variant,,ENST00000222728,;HOXA3,upstream_gene_variant,,ENST00000521779,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,upstream_gene_variant,,ENST00000521401,;HOXA6,downstream_gene_variant,,ENST00000521478,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	554	45	39	SUCCESS
RADIL	55698	.	GRCh37	7	4874647	4874647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	19	37	0	ENST00000399583.3:c.1007C>T	p.Thr336Ile	p.T336I	ENST00000399583	NM_018059.4	336	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS43544.1	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGGTCCTG	NONE	.	.	hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000382492	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000399583	Transcript	.	.	ENSG00000157927	22226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.02)	.	RADIL_HUMAN	RADIL	HGNC	F5H6X3_HUMAN,C9J7G0_HUMAN	.	UPI0000E0A787	SNV	RADIL,missense_variant,p.Thr336Ile,ENST00000399583,;RADIL,missense_variant,p.Thr336Ile,ENST00000536091,;RADIL,missense_variant,p.Thr96Ile,ENST00000538469,;RADIL,synonymous_variant,p.%3D,ENST00000445392,;RADIL,upstream_gene_variant,,ENST00000473130,;RADIL,upstream_gene_variant,,ENST00000484211,;	1195	37	30	SUCCESS
FIGNL1	63979	.	GRCh37	7	50514900	50514900	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781103365	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	73	0	ENST00000356889.4:c.86C>T	p.Pro29Leu	p.P29L	ENST00000356889	NM_001287495.1	29	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5510.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCGGTCCG	NONE	byFrequency	.	hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074	.	.	ENSP00000410811	.	2/2	.	.	.	.	.	.	.	.	rs781103365	2/2	PASS	ENST00000419119	Transcript	.	.	ENSG00000132436	13286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	FIGL1_HUMAN	FIGNL1	HGNC	C9JTG6_HUMAN,C9JTB2_HUMAN,C9JP37_HUMAN,C9JKI6_HUMAN,C9JHJ4_HUMAN	.	UPI000013CE5D	SNV	FIGNL1,missense_variant,p.Pro29Leu,ENST00000433017,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000422854,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000420829,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000448788,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000440350,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000436590,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000419119,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000356889,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000435566,;FIGNL1,missense_variant,p.Pro29Leu,ENST00000395556,;	1640	73	62	SUCCESS
CCT6A	908	.	GRCh37	7	56119613	56119613	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	45	0	ENST00000275603.4:c.72C>A	p.Ile24=	p.I24=	ENST00000275603	NM_001762.3	24	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS5523.1	72	RADIA|VARSCANS	.	AACATCAGCGC	NONE	.	.	Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02347,Gene3D:1.10.560.10,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353	.	.	ENSP00000275603	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000275603	Transcript	.	.	ENSG00000146731	1620	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCPZ_HUMAN	CCT6A	HGNC	.	.	UPI0000136B11	SNV	CCT6A,synonymous_variant,p.%3D,ENST00000275603,;CCT6A,synonymous_variant,p.%3D,ENST00000335503,;CCT6A,intron_variant,,ENST00000540286,;PSPH,upstream_gene_variant,,ENST00000421312,;PSPH,upstream_gene_variant,,ENST00000275605,;PSPH,upstream_gene_variant,,ENST00000416592,;PSPH,upstream_gene_variant,,ENST00000419984,;PSPH,upstream_gene_variant,,ENST00000424596,;PSPH,upstream_gene_variant,,ENST00000413218,;PSPH,upstream_gene_variant,,ENST00000395471,;SNORA22,upstream_gene_variant,,ENST00000383876,;CCT6A,upstream_gene_variant,,ENST00000493855,;PSPH,upstream_gene_variant,,ENST00000437355,;CCT6A,upstream_gene_variant,,ENST00000482776,;	291	45	36	SUCCESS
GRID2IP	392862	.	GRCh37	7	6554130	6554130	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	11	0	ENST00000457091.2:c.1299C>A	p.Tyr433Ter	p.Y433*	ENST00000457091	NM_001145118.1	433	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS47537.1	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ACAGGGTAGAC	NONE	.	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15	.	.	ENSP00000397351	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000457091	Transcript	.	.	ENSG00000215045	18464	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRD2I_HUMAN	GRID2IP	HGNC	.	.	UPI0001722D0B	SNV	GRID2IP,stop_gained,p.Tyr433Ter,ENST00000457091,;GRID2IP,stop_gained,p.Tyr243Ter,ENST00000452113,;GRID2IP,stop_gained,p.Tyr250Ter,ENST00000435185,;	1299	11	13	SUCCESS
FZD9	8326	.	GRCh37	7	72849142	72849142	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	41	0	ENST00000344575.3:c.805T>C	p.Phe269Leu	p.F269L	ENST00000344575	NM_003508.2	269	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS5548.1	805	RADIA|VARSCANS	.	TCATCTTCCTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000345785	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344575	Transcript	.	.	ENSG00000188763	4047	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.987)	.	tolerated(0.09)	.	FZD9_HUMAN	FZD9	HGNC	.	.	UPI000004EC98	SNV	FZD9,missense_variant,p.Phe269Leu,ENST00000344575,;	1034	41	39	SUCCESS
SEMA3A	10371	.	GRCh37	7	83590805	83590805	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs318240753	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	70	217	0	ENST00000265362.4:c.2198G>T	p.Arg733Leu	p.R733L	ENST00000265362	NM_006080.2	733	cGt/cTt	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS5599.1	2198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	GCCGACGTTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036	.	T:0.0001	ENSP00000265362	.	17/17	.	.	.	.	.	.	.	.	rs318240753	17/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	22927827	possibly_damaging(0.604)	.	tolerated(0.07)	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,missense_variant,p.Arg733Leu,ENST00000265362,;SEMA3A,missense_variant,p.Arg733Leu,ENST00000436949,;	2513	217	168	SUCCESS
OR2AE1	81392	.	GRCh37	7	99474046	99474046	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	52	0	ENST00000316368.2:c.611T>C	p.Ile204Thr	p.I204T	ENST00000316368	NM_001005276.1	204	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS34696.1	611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAATGCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF196,PROSITE_profiles:PS50262	.	.	ENSP00000313936	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316368	Transcript	.	.	ENSG00000244623	15087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0.03)	.	O2AE1_HUMAN	OR2AE1	HGNC	.	.	UPI000004B1E7	SNV	OR2AE1,missense_variant,p.Ile204Thr,ENST00000316368,;TRIM4,downstream_gene_variant,,ENST00000447480,;CYP3A52P,downstream_gene_variant,,ENST00000563326,;	635	52	42	SUCCESS
MCM7	4176	.	GRCh37	7	99697309	99697309	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	8	0	ENST00000303887.5:c.179C>G	p.Pro60Arg	p.P60R	ENST00000303887	NM_001278595.1	60	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS5683.1	179	MUTECT|MUSE	.	ACTCGGGGTCA	NONE	.	.	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF14551,Gene3D:1ltlA01,Superfamily_domains:SSF50249	.	.	ENSP00000307288	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.211)	.	tolerated(0.37)	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,missense_variant,p.Pro60Arg,ENST00000303887,;MCM7,missense_variant,p.Pro60Arg,ENST00000343023,;MCM7,5_prime_UTR_variant,,ENST00000425308,;MCM7,5_prime_UTR_variant,,ENST00000354230,;AP4M1,upstream_gene_variant,,ENST00000422582,;AP4M1,upstream_gene_variant,,ENST00000359593,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000421755,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000439416,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,upstream_gene_variant,,ENST00000478501,;MCM7,missense_variant,p.Pro18Arg,ENST00000491245,;MCM7,non_coding_transcript_exon_variant,,ENST00000467516,;MCM7,non_coding_transcript_exon_variant,,ENST00000465738,;MCM7,non_coding_transcript_exon_variant,,ENST00000463722,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000465688,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,upstream_gene_variant,,ENST00000493352,;AP4M1,upstream_gene_variant,,ENST00000445208,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,upstream_gene_variant,,ENST00000477372,;AP4M1,upstream_gene_variant,,ENST00000394061,;AP4M1,upstream_gene_variant,,ENST00000479916,;	825	8	12	SUCCESS
CYP11B1	1584	.	GRCh37	8	143958298	143958298	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	44	0	ENST00000292427.4:c.599G>A	p.Ser200Asn	p.S200N	ENST00000292427	NM_000497.3	200	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS6392.1	599	RADIA|VARSCANS	.	AGTTGCTGGCT	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000292427	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000292427	Transcript	1	.	ENSG00000160882	2591	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	C11B1_HUMAN	CYP11B1	HGNC	Q8TE40_HUMAN,Q8TE38_HUMAN	.	UPI000013E0BA	SNV	CYP11B1,missense_variant,p.Ser200Asn,ENST00000517471,;CYP11B1,missense_variant,p.Ser200Asn,ENST00000292427,;CYP11B1,missense_variant,p.Ser271Asn,ENST00000377675,;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	632	44	38	SUCCESS
CSMD1	64478	.	GRCh37	8	2999990	2999990	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	88	0	ENST00000537824.1:c.6238C>A	p.Gln2080Lys	p.Q2080K	ENST00000537824	NM_033225.5	2080	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS55189.1	6238	RADIA|VARSCANS	.	ACCTTGGTAAG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	41/70	.	.	.	.	.	.	.	.	.	41/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Gln2081Lys,ENST00000400186,;CSMD1,missense_variant,p.Gln2080Lys,ENST00000542608,;CSMD1,missense_variant,p.Gln2081Lys,ENST00000602723,;CSMD1,missense_variant,p.Gln1561Lys,ENST00000335551,;CSMD1,missense_variant,p.Gln2080Lys,ENST00000537824,;CSMD1,missense_variant,p.Gln2081Lys,ENST00000520002,;CSMD1,missense_variant,p.Gln2080Lys,ENST00000539096,;CSMD1,missense_variant,p.Gln2081Lys,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;	6238	88	32	SUCCESS
SLC26A7	115111	.	GRCh37	8	92301399	92301399	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	49	187	0	ENST00000276609.3:c.229G>T	p.Val77Leu	p.V77L	ENST00000276609	NM_052832.2	77	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS6255.1	229	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGTGTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF13792	.	.	ENSP00000309504	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,missense_variant,p.Val77Leu,ENST00000276609,;SLC26A7,missense_variant,p.Val77Leu,ENST00000309536,;SLC26A7,missense_variant,p.Val77Leu,ENST00000522862,;SLC26A7,missense_variant,p.Val77Leu,ENST00000523719,;SLC26A7,missense_variant,p.Val77Leu,ENST00000522181,;	449	187	223	SUCCESS
ZBTB6	10773	.	GRCh37	9	125674263	125674263	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	51	107	0	ENST00000373659.3:c.89A>G	p.Asn30Ser	p.N30S	ENST00000373659	NM_006626.5	30	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6846.1	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATTCTGC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF91,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	.	.	ENSP00000362763	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373659	Transcript	.	.	ENSG00000186130	16764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.21)	.	ZBTB6_HUMAN	ZBTB6	HGNC	.	.	UPI000006D7C8	SNV	ZBTB6,missense_variant,p.Asn30Ser,ENST00000373659,;ZBTB26,downstream_gene_variant,,ENST00000373656,;	178	107	59	SUCCESS
CDK9	1025	.	GRCh37	9	130550943	130550943	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	47	117	1	ENST00000373264.4:c.725G>T	p.Ser242Ile	p.S242I	ENST00000373264	NM_001261.3	242	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS6879.1	725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGTCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF158,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362361	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000373264	Transcript	.	.	ENSG00000136807	1780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.46)	.	CDK9_HUMAN	CDK9	HGNC	.	.	UPI000013D041	SNV	CDK9,missense_variant,p.Ser359Ile,ENST00000373265,;CDK9,missense_variant,p.Ser242Ile,ENST00000373264,;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,non_coding_transcript_exon_variant,,ENST00000498339,;CDK9,downstream_gene_variant,,ENST00000480353,;CDK9,downstream_gene_variant,,ENST00000491521,;	825	118	59	SUCCESS
NUP214	8021	.	GRCh37	9	134004676	134004676	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	78	0	ENST00000359428.5:c.404A>T	p.Gln135Leu	p.Q135L	ENST00000359428	NM_005085.3	135	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6940.1	404	RADIA|VARSCANS	.	ACAGCAAAAAC	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10	.	.	ENSP00000352400	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Gln135Leu,ENST00000451030,;NUP214,missense_variant,p.Gln135Leu,ENST00000359428,;NUP214,missense_variant,p.Gln45Leu,ENST00000531584,;NUP214,missense_variant,p.Gln135Leu,ENST00000411637,;RNU6-881P,downstream_gene_variant,,ENST00000516813,;RP11-544A12.4,downstream_gene_variant,,ENST00000587264,;RP11-544A12.4,downstream_gene_variant,,ENST00000586290,;RP11-544A12.4,downstream_gene_variant,,ENST00000588378,;RP11-544A12.4,downstream_gene_variant,,ENST00000589667,;RP11-544A12.4,downstream_gene_variant,,ENST00000587408,;RP11-544A12.4,downstream_gene_variant,,ENST00000589540,;NUP214,non_coding_transcript_exon_variant,,ENST00000526412,;NUP214,upstream_gene_variant,,ENST00000530843,;NUP214,upstream_gene_variant,,ENST00000525561,;	548	78	38	SUCCESS
RALGDS	5900	.	GRCh37	9	135982063	135982063	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	53	0	ENST00000372050.3:c.1486C>A	p.Arg496Ser	p.R496S	ENST00000372050	NM_006266.3	496	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS6959.1	1486	RADIA|VARSCANS	.	CAGACGGTGGA	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000361120	.	8/18	.	.	.	.	.	.	.	.	COSM1569385	8/18	PASS	ENST00000372050	Transcript	.	.	ENSG00000160271	9842	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	deleterious(0)	1	GNDS_HUMAN	RALGDS	HGNC	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN	.	UPI000012B8BC	SNV	RALGDS,missense_variant,p.Arg56Ser,ENST00000424572,;RALGDS,missense_variant,p.Arg496Ser,ENST00000372050,;RALGDS,missense_variant,p.Arg441Ser,ENST00000393160,;RALGDS,missense_variant,p.Arg495Ser,ENST00000393157,;RALGDS,missense_variant,p.Arg484Ser,ENST00000372047,;RALGDS,missense_variant,p.Arg467Ser,ENST00000372062,;RALGDS,missense_variant,p.Arg567Ser,ENST00000542690,;RALGDS,non_coding_transcript_exon_variant,,ENST00000469972,;RALGDS,non_coding_transcript_exon_variant,,ENST00000493438,;RALGDS,non_coding_transcript_exon_variant,,ENST00000482648,;RALGDS,non_coding_transcript_exon_variant,,ENST00000460587,;RALGDS,upstream_gene_variant,,ENST00000471109,;RALGDS,upstream_gene_variant,,ENST00000498797,;RALGDS,upstream_gene_variant,,ENST00000493067,;	1508	53	36	SUCCESS
TUBB4B	10383	.	GRCh37	9	140137668	140137668	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	127	0	ENST00000340384.4:c.998T>C	p.Val333Ala	p.V333A	ENST00000340384	NM_006088.5	333	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS7039.1	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGTCCAAA	NONE	.	.	hmmpanther:PTHR11588:SF54,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01163	.	.	ENSP00000341289	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340384	Transcript	.	.	ENSG00000188229	20771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	deleterious_low_confidence(0.02)	.	TBB4B_HUMAN	TUBB4B	HGNC	Q96HX0_HUMAN	.	UPI000000D966	SNV	TUBB4B,missense_variant,p.Val333Ala,ENST00000340384,;FAM166A,downstream_gene_variant,,ENST00000344774,;FAM166A,downstream_gene_variant,,ENST00000484720,;FAM166A,downstream_gene_variant,,ENST00000388932,;TUBB4B,non_coding_transcript_exon_variant,,ENST00000604929,;FAM166A,downstream_gene_variant,,ENST00000471784,;	1146	127	67	SUCCESS
LINGO2	158038	.	GRCh37	9	27950383	27950383	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	157	1	ENST00000308675.3:c.287T>A	p.Val96Glu	p.V96E	ENST00000308675		96	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS6524.1	287	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCACATTG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000369328	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000379992	Transcript	.	.	ENSG00000174482	21207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	LIGO2_HUMAN	LINGO2	HGNC	.	.	UPI000004C7CD	SNV	LINGO2,missense_variant,p.Val96Glu,ENST00000308675,;LINGO2,missense_variant,p.Val96Glu,ENST00000379992,;	737	158	80	SUCCESS
RFX3	5991	.	GRCh37	9	3346710	3346710	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	63	0	ENST00000382004.3:c.172C>T	p.Gln58Ter	p.Q58*	ENST00000382004	NM_134428.1	58	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6449.1	172	RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGCACCT	NONE	.	.	Pfam_domain:PF04589,hmmpanther:PTHR12619:SF20,hmmpanther:PTHR12619	.	.	ENSP00000371434	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000382004	Transcript	.	.	ENSG00000080298	9984	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFX3_HUMAN	RFX3	HGNC	F6XM74_HUMAN,F6USP3_HUMAN	.	UPI0000070BFB	SNV	RFX3,stop_gained,p.Gln19Ter,ENST00000442560,;RFX3,stop_gained,p.Gln19Ter,ENST00000420720,;RFX3,stop_gained,p.Gln58Ter,ENST00000381984,;RFX3,stop_gained,p.Gln58Ter,ENST00000302303,;RFX3,stop_gained,p.Gln58Ter,ENST00000457373,;RFX3,stop_gained,p.Gln58Ter,ENST00000382004,;RFX3,stop_gained,p.Gln58Ter,ENST00000449190,;RFX3,stop_gained,p.Gln58Ter,ENST00000358730,;RFX3,stop_gained,p.Gln58Ter,ENST00000451859,;	484	63	37	SUCCESS
KIAA1432	0	.	GRCh37	9	5774022	5774022	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	101	0	ENST00000414202.2:c.4048G>A	p.Glu1350Lys	p.E1350K	ENST00000414202	NM_001206557.1	1350	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34982.2	4048	RADIA|VARSCANS	.	TAACAGAAGAG	NONE	.	.	hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10	.	.	ENSP00000416696	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000414202	Transcript	.	.	ENSG00000107036	17686	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.08)	.	RIC1_HUMAN	KIAA1432	HGNC	.	.	UPI00002110DE	SNV	KIAA1432,missense_variant,p.Glu1234Lys,ENST00000449720,;KIAA1432,missense_variant,p.Glu1242Lys,ENST00000545641,;KIAA1432,missense_variant,p.Glu1271Lys,ENST00000418622,;KIAA1432,missense_variant,p.Glu1350Lys,ENST00000414202,;KIAA1432,downstream_gene_variant,,ENST00000381532,;KIAA1432,downstream_gene_variant,,ENST00000490816,;KIAA1432,downstream_gene_variant,,ENST00000251879,;KIAA1432,3_prime_UTR_variant,,ENST00000545243,;ERMP1,intron_variant,,ENST00000462592,;KIAA1432,downstream_gene_variant,,ENST00000276898,;	4239	101	41	SUCCESS
SMC5	23137	.	GRCh37	9	72874164	72874164	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs770019765	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	42	0	ENST00000361138.5:c.170C>A	p.Ser57Ter	p.S57*	ENST00000361138	NM_015110.3	57	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS6632.1	170	RADIA|VARSCANS	.	CATCTCGATGG	NONE	.	.	hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306,Pfam_domain:PF02463,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000354957	.	1/25	.	.	.	.	.	.	.	.	rs770019765	1/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,stop_gained,p.Ser57Ter,ENST00000361138,;SMC5-AS1,upstream_gene_variant,,ENST00000594708,;	228	42	26	SUCCESS
LUZP4	51213	.	GRCh37	X	114541215	114541215	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	58	88	0	ENST00000371920.3:c.788A>G	p.Gln263Arg	p.Q263R	ENST00000371920	NM_016383.3	263	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS14567.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCAGAGAG	NONE	.	.	hmmpanther:PTHR22550:SF6,hmmpanther:PTHR22550	.	.	ENSP00000360988	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000371920	Transcript	.	.	ENSG00000102021	24971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	tolerated(0.14)	.	LUZP4_HUMAN	LUZP4	HGNC	.	.	UPI0000036093	SNV	LUZP4,missense_variant,p.Gln181Arg,ENST00000451986,;LUZP4,missense_variant,p.Gln263Arg,ENST00000371920,;LUZP4,3_prime_UTR_variant,,ENST00000371921,;	795	89	92	SUCCESS
REPS2	9185	.	GRCh37	X	17095520	17095520	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	22	0	ENST00000357277.3:c.1506C>T	p.Pro502=	p.P502=	ENST00000357277	NM_001080975.1	502	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14180.2	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCAGTGT	NONE	.	.	hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216	.	.	ENSP00000349824	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000357277	Transcript	.	.	ENSG00000169891	9963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REPS2_HUMAN	REPS2	HGNC	.	.	UPI00001BBB18	SNV	REPS2,synonymous_variant,p.%3D,ENST00000357277,;REPS2,synonymous_variant,p.%3D,ENST00000303843,;REPS2,intron_variant,,ENST00000380064,;REPS2,intron_variant,,ENST00000469714,;	1677	22	30	SUCCESS
RAI2	10742	.	GRCh37	X	17819189	17819189	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756566295	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	24	0	ENST00000331511.1:c.942C>A	p.Asn314Lys	p.N314K	ENST00000331511		314	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS14183.1	942	RADIA|VARSCANS	.	GCCTCGTTCTC	NONE	byFrequency	.	hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF3	.	.	ENSP00000444210	.	3/3	.	.	.	.	.	.	.	.	rs756566295,COSM3780405	3/3	PASS	ENST00000545871	Transcript	.	.	ENSG00000131831	9835	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	unknown(0)	.	deleterious(0.03)	0,1	RAI2_HUMAN	RAI2	HGNC	.	.	UPI000013CE19	SNV	RAI2,missense_variant,p.Asn314Lys,ENST00000331511,;RAI2,missense_variant,p.Asn314Lys,ENST00000360011,;RAI2,missense_variant,p.Asn314Lys,ENST00000451717,;RAI2,missense_variant,p.Asn264Lys,ENST00000415486,;RAI2,missense_variant,p.Asn314Lys,ENST00000545871,;RAI2,downstream_gene_variant,,ENST00000509491,;	1403	24	33	SUCCESS
NUDT5	11164	.	GRCh37	10	12221083	12221083	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs763127956	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	80	1	ENST00000491614.1:c.180T>C		p.X60_splice	ENST00000491614		60	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS7089.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCATCCGC	NONE	.	.	Superfamily_domains:SSF55811,Gene3D:3.90.79.10,Pfam_domain:PF00293,hmmpanther:PTHR11839,hmmpanther:PTHR11839:SF1,PROSITE_profiles:PS51462	.	.	ENSP00000419628	.	4/10	.	.	.	.	.	.	.	.	rs763127956	4/10	PASS	ENST00000491614	Transcript	.	.	ENSG00000165609	8052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUDT5_HUMAN	NUDT5	HGNC	.	.	UPI00001308E1	SNV	NUDT5,synonymous_variant,p.%3D,ENST00000491614,;NUDT5,synonymous_variant,p.%3D,ENST00000378937,;NUDT5,synonymous_variant,p.%3D,ENST00000378927,;NUDT5,synonymous_variant,p.%3D,ENST00000537776,;NUDT5,synonymous_variant,p.%3D,ENST00000444732,;NUDT5,synonymous_variant,p.%3D,ENST00000378940,;NUDT5,splice_region_variant,,ENST00000378952,;NUDT5,synonymous_variant,p.%3D,ENST00000476462,;	576	81	71	SUCCESS
KIAA1217	56243	.	GRCh37	10	24762983	24762983	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	26	0	ENST00000376454.3:c.1673A>G	p.Glu558Gly	p.E558G	ENST00000376454	NM_019590.3	558	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31165.1	1673	RADIA|VARSCANS	.	CAGAGAGACCA	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Glu479Gly,ENST00000430453,;KIAA1217,missense_variant,p.Glu558Gly,ENST00000376454,;KIAA1217,missense_variant,p.Glu276Gly,ENST00000396445,;KIAA1217,missense_variant,p.Glu276Gly,ENST00000307544,;KIAA1217,missense_variant,p.Glu276Gly,ENST00000396446,;KIAA1217,missense_variant,p.Glu276Gly,ENST00000376451,;KIAA1217,missense_variant,p.Glu558Gly,ENST00000376456,;KIAA1217,missense_variant,p.Glu558Gly,ENST00000376452,;KIAA1217,missense_variant,p.Glu478Gly,ENST00000376462,;KIAA1217,missense_variant,p.Glu408Gly,ENST00000438429,;KIAA1217,missense_variant,p.Glu558Gly,ENST00000458595,;	1703	26	32	SUCCESS
UNC5B	219699	.	GRCh37	10	73055576	73055576	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	53	0	ENST00000335350.6:c.2184G>T	p.Leu728=	p.L728=	ENST00000335350	NM_170744.4	728	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7309.1	2184	RADIA|VARSCANS	.	GTGCTGGAGCT	NONE	.	.	hmmpanther:PTHR12582:SF6,hmmpanther:PTHR12582	.	.	ENSP00000334329	.	14/17	.	.	.	.	.	.	.	.	COSM3440167	14/17	oxog	ENST00000335350	Transcript	.	.	ENSG00000107731	12568	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	UNC5B_HUMAN	UNC5B	HGNC	.	.	UPI000000D753	SNV	UNC5B,synonymous_variant,p.%3D,ENST00000335350,;UNC5B,synonymous_variant,p.%3D,ENST00000373192,;	2600	53	32	SUCCESS
LIPA	3988	.	GRCh37	10	90988121	90988121	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755847301	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	36	0	ENST00000336233.5:c.264G>T	p.Leu88Phe	p.L88F	ENST00000336233		88	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7401.1	264	RADIA|VARSCANS	.	GCCAGCAAGCC	NONE	byFrequency	.	hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF26,Gene3D:3.40.50.1820,Pfam_domain:PF04083,PIRSF_domain:PIRSF000862,Superfamily_domains:SSF53474	.	.	ENSP00000337354	.	4/10	.	.	.	.	.	.	.	.	rs755847301	4/10	PASS	ENST00000336233	Transcript	1	.	ENSG00000107798	6617	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.288)	.	tolerated(0.12)	.	LICH_HUMAN	LIPA	HGNC	Q5T770_HUMAN,Q5T073_HUMAN,B4DE67_HUMAN	.	UPI000013C851	SNV	LIPA,missense_variant,p.Leu32Phe,ENST00000371837,;LIPA,missense_variant,p.Leu88Phe,ENST00000456827,;LIPA,missense_variant,p.Leu88Phe,ENST00000428800,;LIPA,missense_variant,p.Leu88Phe,ENST00000282673,;LIPA,missense_variant,p.Leu88Phe,ENST00000336233,;	587	36	32	SUCCESS
PCSK7	9159	.	GRCh37	11	117097967	117097967	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	45	0	ENST00000320934.3:c.675C>A	p.Gly225=	p.G225=	ENST00000320934	NM_004716.2	225	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS8382.1	675	RADIA|VARSCANS	.	TGGTTGCCATT	NONE	.	.	hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743,Prints_domain:PR00723	.	.	ENSP00000325917	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000320934	Transcript	.	.	ENSG00000160613	8748	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCSK7_HUMAN	PCSK7	HGNC	E9PMC0_HUMAN,E9PLM0_HUMAN,E9PIW7_HUMAN,B3KUH2_HUMAN	.	UPI0000070E4E	SNV	PCSK7,synonymous_variant,p.%3D,ENST00000320934,;PCSK7,synonymous_variant,p.%3D,ENST00000525027,;PCSK7,downstream_gene_variant,,ENST00000532301,;PCSK7,upstream_gene_variant,,ENST00000540028,;PCSK7,downstream_gene_variant,,ENST00000524507,;PCSK7,downstream_gene_variant,,ENST00000530269,;PCSK7,upstream_gene_variant,,ENST00000528217,;PCSK7,upstream_gene_variant,,ENST00000534529,;	1306	45	36	SUCCESS
ANO3	63982	.	GRCh37	11	26529751	26529751	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	65	0	ENST00000256737.3:c.533A>G	p.Asp178Gly	p.D178G	ENST00000256737	NM_031418.2	178	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS31447.1	533	MUTECT|VARSCANS	.	ATATGATAAAA	NONE	.	.	hmmpanther:PTHR12308:SF16,hmmpanther:PTHR12308	.	.	ENSP00000256737	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000256737	Transcript	.	.	ENSG00000134343	14004	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.01)	.	ANO3_HUMAN	ANO3	HGNC	E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN	.	UPI00001F9ED8	SNV	ANO3,missense_variant,p.Asp178Gly,ENST00000531646,;ANO3,missense_variant,p.Asp32Gly,ENST00000531568,;ANO3,missense_variant,p.Asp162Gly,ENST00000525139,;ANO3,missense_variant,p.Asp178Gly,ENST00000256737,;ANO3,missense_variant,p.Asp162Gly,ENST00000537978,;	1385	65	48	SUCCESS
EIF3M	10480	.	GRCh37	11	32610277	32610277	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	47	0	ENST00000531120.1:c.313T>C		p.X105_splice	ENST00000531120	NM_006360.4	105	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS7880.1	313	RADIA|VARSCANS	.	TGCAGTTGTAA	NONE	.	.	HAMAP:MF_03012,hmmpanther:PTHR15350,Superfamily_domains:SSF48371	.	.	ENSP00000436049	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000531120	Transcript	.	.	ENSG00000149100	24460	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3M_HUMAN	EIF3M	HGNC	J3KNJ2_HUMAN,E9PN86_HUMAN	.	UPI0000070F8A	SNV	EIF3M,synonymous_variant,p.%3D,ENST00000531120,;EIF3M,synonymous_variant,p.%3D,ENST00000533439,;EIF3M,synonymous_variant,p.%3D,ENST00000323213,;EIF3M,intron_variant,,ENST00000524896,;EIF3M,upstream_gene_variant,,ENST00000526267,;EIF3M,downstream_gene_variant,,ENST00000532054,;EIF3M,synonymous_variant,p.%3D,ENST00000531921,;EIF3M,splice_region_variant,,ENST00000530026,;EIF3M,splice_region_variant,,ENST00000532444,;EIF3M,non_coding_transcript_exon_variant,,ENST00000531186,;EIF3M,intron_variant,,ENST00000525782,;EIF3M,intron_variant,,ENST00000524711,;HNRNPA3P9,downstream_gene_variant,,ENST00000604913,;	376	47	32	SUCCESS
PYGM	5837	.	GRCh37	11	64522270	64522270	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	31	0	ENST00000164139.3:c.894T>A	p.Tyr298Ter	p.Y298*	ENST00000164139	NM_005609.2	298	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS8079.1	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAAATACTC	NONE	.	.	Superfamily_domains:SSF53756,PIRSF_domain:PIRSF000460,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,Gene3D:3.40.50.2000,hmmpanther:PTHR11468:SF1,hmmpanther:PTHR11468	.	.	ENSP00000164139	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000164139	Transcript	.	.	ENSG00000068976	9726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYGM_HUMAN	PYGM	HGNC	.	.	UPI000013C5AC	SNV	PYGM,stop_gained,p.Tyr298Ter,ENST00000164139,;PYGM,stop_gained,p.Tyr210Ter,ENST00000377432,;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,upstream_gene_variant,,ENST00000460413,;	1293	31	35	SUCCESS
CST6	1474	.	GRCh37	11	65780325	65780325	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	23	46	0	ENST00000312134.2:c.269C>A	p.Thr90Lys	p.T90K	ENST00000312134	NM_001323.3	90	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS8126.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACGATGG	NONE	.	.	Superfamily_domains:SSF54403,SMART_domains:SM00043,Pfam_domain:PF00031,Gene3D:3.10.450.10,PROSITE_patterns:PS00287,hmmpanther:PTHR11413:SF33,hmmpanther:PTHR11413	.	.	ENSP00000311313	.	2/3	.	.	.	.	.	.	.	.	COSM1561655	2/3	PASS	ENST00000312134	Transcript	.	.	ENSG00000175315	2478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0.02)	1	CYTM_HUMAN	CST6	HGNC	.	.	UPI00000015F5	SNV	CST6,missense_variant,p.Thr90Lys,ENST00000312134,;CATSPER1,downstream_gene_variant,,ENST00000312106,;CATSPER1,downstream_gene_variant,,ENST00000529244,;	473	46	32	SUCCESS
TYR	7299	.	GRCh37	11	88911776	88911776	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs747995722	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	23	0	ENST00000263321.5:c.655G>C	p.Glu219Gln	p.E219Q	ENST00000263321	NM_000372.4	219	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS8284.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGAACAA	NONE	.	.	hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16,PROSITE_patterns:PS00497,Pfam_domain:PF00264,Gene3D:1.10.1280.10,Superfamily_domains:SSF48056,Prints_domain:PR00092	.	.	ENSP00000263321	.	1/5	.	.	.	.	.	.	.	.	rs747995722,CM085760,HM050006	1/5	PASS	ENST00000263321	Transcript	.	.	ENSG00000077498	12442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	.	TYRO_HUMAN	TYR	HGNC	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN	.	UPI000004441A	SNV	TYR,missense_variant,p.Glu219Gln,ENST00000263321,;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;	1157	23	20	SUCCESS
TAS2R30	259293	.	GRCh37	12	11286203	11286203	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	20	119	0	ENST00000539585.1:c.641A>T	p.Lys214Ile	p.K214I	ENST00000539585	NM_001097643.1	214	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS53750.1	641	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTTTGCCA	NONE	.	.	hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF48,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000444736	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000539585	Transcript	.	.	ENSG00000256188	19112	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	.	TAS2R30	HGNC	Q50KG7_HUMAN	.	UPI000006202F	SNV	TAS2R30,missense_variant,p.Lys214Ile,ENST00000539585,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000546265,;PRR4,intron_variant,,ENST00000541175,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;	1041	119	179	SUCCESS
PLBD2	196463	.	GRCh37	12	113824744	113824744	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	17	0	ENST00000280800.3:c.1289C>T	p.Ser430Phe	p.S430F	ENST00000280800	NM_173542.3	430	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS9168.1	1289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCCTTCG	NONE	.	.	hmmpanther:PTHR12370:SF3,hmmpanther:PTHR12370,Pfam_domain:PF04916	.	.	ENSP00000280800	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000280800	Transcript	.	.	ENSG00000151176	27283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.23)	.	PLBL2_HUMAN	PLBD2	HGNC	.	.	UPI000013DC40	SNV	PLBD2,missense_variant,p.Ser430Phe,ENST00000280800,;PLBD2,missense_variant,p.Ser398Phe,ENST00000545182,;	1320	17	25	SUCCESS
HNF1A	6927	.	GRCh37	12	121426782	121426782	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	21	0	ENST00000257555.6:c.473A>G	p.Lys158Arg	p.K158R	ENST00000257555		158	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9209.1	473	RADIA|VARSCANS	.	GCAGAAGCGGG	NONE	.	.	hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF04814,Gene3D:1.10.260.40,Superfamily_domains:SSF47413	.	.	ENSP00000257555	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.793)	.	deleterious(0.01)	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Lys158Arg,ENST00000541395,;HNF1A,missense_variant,p.Lys158Arg,ENST00000400024,;HNF1A,missense_variant,p.Lys158Arg,ENST00000402929,;HNF1A,missense_variant,p.Lys41Arg,ENST00000543427,;HNF1A,missense_variant,p.Lys158Arg,ENST00000544413,;HNF1A,missense_variant,p.Lys158Arg,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Lys206Arg,ENST00000560968,;HNF1A,missense_variant,p.Lys158Arg,ENST00000538646,;HNF1A,missense_variant,p.Lys158Arg,ENST00000541924,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000540108,;	699	21	35	SUCCESS
ITGA7	3679	.	GRCh37	12	56086982	56086982	+	synonymous_variant	Silent	SNP	G	G	T	rs751647692	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	26	0	ENST00000555728.1:c.2787C>A	p.Gly929=	p.G929=	ENST00000555728		929	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS55832.1	2667	RADIA|VARSCANS	.	TGCCCGCCCTC	NONE	byFrequency	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	20/25	.	.	.	.	.	.	.	.	rs751647692,COSM81304,COSM694556	20/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,synonymous_variant,p.%3D,ENST00000452168,;ITGA7,synonymous_variant,p.%3D,ENST00000257879,;ITGA7,synonymous_variant,p.%3D,ENST00000394230,;ITGA7,synonymous_variant,p.%3D,ENST00000555728,;ITGA7,synonymous_variant,p.%3D,ENST00000553804,;ITGA7,synonymous_variant,p.%3D,ENST00000257880,;ITGA7,synonymous_variant,p.%3D,ENST00000347027,;ITGA7,synonymous_variant,p.%3D,ENST00000394229,;ITGA7,upstream_gene_variant,,ENST00000557555,;ITGA7,3_prime_UTR_variant,,ENST00000554327,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,;ITGA7,downstream_gene_variant,,ENST00000557058,;	2686	26	31	SUCCESS
PCID2	55795	.	GRCh37	13	113835485	113835485	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	50	0	ENST00000337344.4:c.745A>G	p.Arg249Gly	p.R249G	ENST00000337344	NM_001127202.2	249	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS58302.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTTTTGT	NONE	.	.	hmmpanther:PTHR12732,SMART_domains:SM00753	.	.	ENSP00000246505	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000246505	Transcript	.	.	ENSG00000126226	25653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	PCID2_HUMAN	PCID2	HGNC	.	.	UPI00001AEF24	SNV	PCID2,missense_variant,p.Arg249Gly,ENST00000375477,;PCID2,missense_variant,p.Arg247Gly,ENST00000375459,;PCID2,missense_variant,p.Arg249Gly,ENST00000375479,;PCID2,missense_variant,p.Arg249Gly,ENST00000337344,;PCID2,missense_variant,p.Arg303Gly,ENST00000246505,;PCID2,missense_variant,p.Arg247Gly,ENST00000375457,;PCID2,non_coding_transcript_exon_variant,,ENST00000480971,;PCID2,non_coding_transcript_exon_variant,,ENST00000484641,;PCID2,non_coding_transcript_exon_variant,,ENST00000473462,;PCID2,non_coding_transcript_exon_variant,,ENST00000475433,;PCID2,non_coding_transcript_exon_variant,,ENST00000493650,;PCID2,upstream_gene_variant,,ENST00000462653,;PCID2,upstream_gene_variant,,ENST00000463102,;	942	50	31	SUCCESS
RNASE10	338879	.	GRCh37	14	20979191	20979191	+	synonymous_variant	Silent	SNP	T	T	C	rs777852060	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	30	0	ENST00000328444.5:c.561T>C	p.Thr187=	p.T187=	ENST00000328444	NM_001012975.1	187	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS32035.1	561	RADIA|VARSCANS	.	GTCACTCCTAA	NONE	.	.	Superfamily_domains:SSF54076,SMART_domains:SM00092,Pfam_domain:PF00074,Gene3D:3.10.130.10,hmmpanther:PTHR11437:SF2,hmmpanther:PTHR11437	.	.	ENSP00000333358	.	1/1	.	.	.	.	.	.	.	.	rs777852060	1/1	PASS	ENST00000328444	Transcript	.	.	ENSG00000182545	19275	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RNS10_HUMAN	RNASE10	HGNC	.	.	UPI00001986DE	SNV	RNASE10,synonymous_variant,p.%3D,ENST00000430083,;RNASE10,synonymous_variant,p.%3D,ENST00000328444,;	580	30	30	SUCCESS
STXBP6	29091	.	GRCh37	14	25281918	25281918	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	34	0	ENST00000323944.5:c.630T>C	p.Cys210=	p.C210=	ENST00000323944		210	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS9634.1	630	RADIA|MUTECT|VARSCANS	.	TCTCAACATTT	NONE	.	.	PROSITE_profiles:PS50892,hmmpanther:PTHR16092	.	.	ENSP00000324302	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000323944	Transcript	.	.	ENSG00000168952	19666	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STXB6_HUMAN	STXBP6	HGNC	.	.	UPI000006DD7D	SNV	STXBP6,synonymous_variant,p.%3D,ENST00000419632,;STXBP6,synonymous_variant,p.%3D,ENST00000546511,;STXBP6,synonymous_variant,p.%3D,ENST00000396700,;STXBP6,synonymous_variant,p.%3D,ENST00000548369,;STXBP6,synonymous_variant,p.%3D,ENST00000323944,;STXBP6,synonymous_variant,p.%3D,ENST00000550887,;STXBP6,synonymous_variant,p.%3D,ENST00000548724,;STXBP6,downstream_gene_variant,,ENST00000548182,;	1082	34	40	SUCCESS
BCL11B	64919	.	GRCh37	14	99642434	99642434	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772129957	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	39	0	ENST00000357195.3:c.739C>A	p.Arg247Ser	p.R247S	ENST00000357195	NM_138576.2	247	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS9950.1	739	RADIA|VARSCANS	.	GATGCGGAAGC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	rs772129957,COSM3386770	4/4	oxog	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,missense_variant,p.Arg53Ser,ENST00000443726,;BCL11B,missense_variant,p.Arg176Ser,ENST00000345514,;BCL11B,missense_variant,p.Arg247Ser,ENST00000357195,;	749	39	18	SUCCESS
SPTBN5	51332	.	GRCh37	15	42182309	42182309	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1432860289	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	48	0	ENST00000320955.6:c.479T>C	p.Ile160Thr	p.I160T	ENST00000320955	NM_016642.3	160	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS61599.1	479	RADIA|MUTECT|VARSCANS	.	GGGAGATCTGG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000317790	.	4/68	.	.	.	.	.	.	.	.	.	4/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Ile160Thr,ENST00000320955,;RP11-23P13.6,upstream_gene_variant,,ENST00000309874,;RP11-23P13.6,upstream_gene_variant,,ENST00000568861,;RP11-23P13.6,upstream_gene_variant,,ENST00000564432,;	707	48	48	SUCCESS
UNC13C	440279	.	GRCh37	15	54306377	54306377	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1448220871	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	64	0	ENST00000260323.11:c.1277C>T	p.Thr426Ile	p.T426I	ENST00000260323	NM_001080534.1	426	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS45264.1	1277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACATATG	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,missense_variant,p.Thr426Ile,ENST00000537900,;UNC13C,missense_variant,p.Thr426Ile,ENST00000545554,;UNC13C,missense_variant,p.Thr426Ile,ENST00000260323,;	1277	64	78	SUCCESS
IDH2	3418	.	GRCh37	15	90631837	90631837	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1057519736	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	120	0	ENST00000330062.3:c.516G>C	p.Arg172Ser	p.R172S	ENST00000330062	NM_002168.2	172	agG/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS10359.1	516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCCTGCC	SITE|p.R172S|c.516G>C|7,CODON|p.R172S|c.516G>T|22,CODON|p.R172M|c.515G>T|28,CODON|p.R172K|c.515G>A|175,BUFFER|p.R172G|c.514A>G|4,BUFFER|p.R172W|c.514A>T|18,BUFFER|p.G171D|c.512G>A|5	.	.	hmmpanther:PTHR11822,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,Gene3D:3.40.718.10,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	.	.	ENSP00000331897	.	4/11	.	.	.	.	.	.	.	.	COSM34090,COSM133672	4/11	PASS	ENST00000330062	Transcript	1	.	ENSG00000182054	5383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	1,1	IDHP_HUMAN	IDH2	HGNC	H0YLL5_HUMAN,B4DSZ6_HUMAN,B4DFL2_HUMAN	.	UPI000012D1C3	SNV	IDH2,missense_variant,p.Arg42Ser,ENST00000539790,;IDH2,missense_variant,p.Arg172Ser,ENST00000330062,;IDH2,missense_variant,p.Arg120Ser,ENST00000540499,;IDH2,intron_variant,,ENST00000559482,;IDH2,3_prime_UTR_variant,,ENST00000560061,;	630	120	82	SUCCESS
GNAO1	2775	.	GRCh37	16	56309970	56309970	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	24	0	ENST00000262493.6:c.289G>T	p.Asp97Tyr	p.D97Y	ENST00000262493	NM_020988.2	97	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS10757.1	289	RADIA|VARSCANS	.	ATGGTGATAAG	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF203,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000262494	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000262494	Transcript	.	.	ENSG00000087258	4389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.45)	.	deleterious(0.04)	.	GNAO_HUMAN	GNAO1	HGNC	Q6AWC5_HUMAN,H3BTM2_HUMAN,H3BQG8_HUMAN	.	UPI000007349C	SNV	GNAO1,missense_variant,p.Asp10Tyr,ENST00000563440,;GNAO1,missense_variant,p.Asp97Tyr,ENST00000262493,;GNAO1,missense_variant,p.Asp55Tyr,ENST00000565363,;GNAO1,missense_variant,p.Asp97Tyr,ENST00000262494,;GNAO1,missense_variant,p.Asp10Tyr,ENST00000562316,;GNAO1,non_coding_transcript_exon_variant,,ENST00000563661,;	549	24	28	SUCCESS
SLC12A4	6560	.	GRCh37	16	67983784	67983784	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	64	0	ENST00000316341.3:c.1667G>A	p.Trp556Ter	p.W556*	ENST00000316341	NM_001145961.1	556	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS54032.1	1673	RADIA|VARSCANS	.	GTGCCCATGTG	NONE	.	.	Prints_domain:PR01081,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46,Transmembrane_helices:TMhelix	.	.	ENSP00000395983	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,stop_gained,p.Trp550Ter,ENST00000537830,;SLC12A4,stop_gained,p.Trp525Ter,ENST00000541864,;SLC12A4,stop_gained,p.Trp556Ter,ENST00000576616,;SLC12A4,stop_gained,p.Trp508Ter,ENST00000572037,;SLC12A4,stop_gained,p.Trp556Ter,ENST00000316341,;SLC12A4,stop_gained,p.Trp556Ter,ENST00000338335,;SLC12A4,stop_gained,p.Trp558Ter,ENST00000422611,;SLC12A4,downstream_gene_variant,,ENST00000571299,;SLC12A4,downstream_gene_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000574665,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000576513,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,intron_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,downstream_gene_variant,,ENST00000573702,;SLC12A4,downstream_gene_variant,,ENST00000572766,;SLC12A4,upstream_gene_variant,,ENST00000570616,;SLC12A4,downstream_gene_variant,,ENST00000576377,;	1713	64	37	SUCCESS
HYDIN	54768	.	GRCh37	16	70937965	70937965	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	40	0	ENST00000393567.2:c.8519A>T	p.Tyr2840Phe	p.Y2840F	ENST00000393567	NM_001270974.1	2840	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS59269.1	8519	RADIA|VARSCANS	.	ACTTGTACCTG	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	51/86	.	.	.	.	.	.	.	.	.	51/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.801)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Tyr2840Phe,ENST00000393567,;HYDIN,splice_region_variant,,ENST00000309900,;	8670	40	42	SUCCESS
CHST5	23563	.	GRCh37	16	75564370	75564370	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	22	0	ENST00000336257.3:c.-88C>A		p.*30*	ENST00000336257	NM_024533.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10919.1	.	RADIA|VARSCANS	.	CCAAGGTCTCA	NONE	.	.	.	.	.	ENSP00000338783	.	3/3	.	.	.	.	.	.	.	.	.	3/3	oxog	ENST00000336257	Transcript	.	.	ENSG00000135702	1973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHST5_HUMAN	CHST5	HGNC	.	.	UPI000006EAEA	SNV	CHST5,5_prime_UTR_variant,,ENST00000336257,;CHST5,intron_variant,,ENST00000565039,;CHST5,intron_variant,,ENST00000541075,;RP11-77K12.7,intron_variant,,ENST00000460606,;	1308	22	30	SUCCESS
MYO1C	4641	.	GRCh37	17	1387559	1387559	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	17	1	ENST00000359786.5:c.114T>G	p.Ser38Arg	p.S38R	ENST00000359786	NM_001080779.1	38	agT/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS42226.1	114	MUTECT|MUSE	.	AGCGCACTCTC	NONE	.	.	hmmpanther:PTHR13140:SF255,hmmpanther:PTHR13140	.	.	ENSP00000352834	.	2/32	.	.	.	.	.	.	.	.	.	2/32	PASS	ENST00000359786	Transcript	.	.	ENSG00000197879	7597	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.793)	.	tolerated(0.32)	.	MYO1C_HUMAN	MYO1C	HGNC	I3L4D4_HUMAN,I3L3Y6_HUMAN,I3L3F5_HUMAN,I3L204_HUMAN,I3L168_HUMAN	.	UPI0000200579	SNV	MYO1C,missense_variant,p.Ser3Arg,ENST00000575335,;MYO1C,missense_variant,p.Ser3Arg,ENST00000574790,;MYO1C,missense_variant,p.Ser14Arg,ENST00000545534,;MYO1C,missense_variant,p.Ser19Arg,ENST00000438665,;MYO1C,missense_variant,p.Ser16Arg,ENST00000570490,;MYO1C,missense_variant,p.Ser3Arg,ENST00000571715,;MYO1C,missense_variant,p.Ser3Arg,ENST00000361007,;MYO1C,missense_variant,p.Ser3Arg,ENST00000575158,;MYO1C,missense_variant,p.Ser3Arg,ENST00000570984,;MYO1C,missense_variant,p.Ser3Arg,ENST00000573853,;MYO1C,missense_variant,p.Ser38Arg,ENST00000359786,;MYO1C,upstream_gene_variant,,ENST00000571851,;MYO1C,upstream_gene_variant,,ENST00000573198,;MYO1C,upstream_gene_variant,,ENST00000576822,;	439	18	8	SUCCESS
SMG6	23293	.	GRCh37	17	2203159	2203159	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	16	52	0	ENST00000263073.6:c.888G>T	p.Val296=	p.V296=	ENST00000263073	NM_017575.4	296	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11016.1	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGACACTTG	NONE	.	.	hmmpanther:PTHR13548:SF1,hmmpanther:PTHR13548	.	.	ENSP00000263073	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000263073	Transcript	.	.	ENSG00000070366	17809	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EST1A_HUMAN	SMG6	HGNC	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN	.	UPI00002005C8	SNV	SMG6,synonymous_variant,p.%3D,ENST00000544865,;SMG6,synonymous_variant,p.%3D,ENST00000263073,;SRR,upstream_gene_variant,,ENST00000576620,;SRR,upstream_gene_variant,,ENST00000575840,;SRR,upstream_gene_variant,,ENST00000576848,;SRR,upstream_gene_variant,,ENST00000344595,;SRR,upstream_gene_variant,,ENST00000574987,;SRR,upstream_gene_variant,,ENST00000572709,;	939	52	53	SUCCESS
MYO18A	399687	.	GRCh37	17	27421740	27421740	+	synonymous_variant	Silent	SNP	G	G	A	rs752998128	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	127	0	ENST00000527372.1:c.4638C>T	p.Asp1546=	p.D1546=	ENST00000527372	NM_078471.3	1546	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS45642.1	4638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGTCCCG	NONE	.	.	Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000437073	.	30/42	.	.	.	.	.	.	.	.	.	30/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,synonymous_variant,p.%3D,ENST00000527372,;MYO18A,synonymous_variant,p.%3D,ENST00000533112,;MYO18A,synonymous_variant,p.%3D,ENST00000354329,;MYO18A,synonymous_variant,p.%3D,ENST00000531253,;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000530557,;MYO18A,intron_variant,,ENST00000533652,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,downstream_gene_variant,,ENST00000532143,;	4819	127	100	SUCCESS
RHOT1	55288	.	GRCh37	17	30551747	30551747	+	synonymous_variant	Silent	SNP	C	C	A	rs769181876	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	28	0	ENST00000333942.6:c.1852C>A	p.Arg618=	p.R618=	ENST00000333942	NM_018307.3	618	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32610.1	2071	RADIA|VARSCANS	.	AACAGCGATGA	NONE	byFrequency	.	.	.	.	ENSP00000351132	.	21/21	.	.	.	.	.	.	.	.	rs769181876,COSM1679710	21/21	PASS	ENST00000358365	Transcript	.	.	ENSG00000126858	21168	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	MIRO1_HUMAN	RHOT1	HGNC	.	.	UPI0000074394	SNV	RHOT1,synonymous_variant,p.%3D,ENST00000354266,;RHOT1,synonymous_variant,p.%3D,ENST00000583994,;RHOT1,synonymous_variant,p.%3D,ENST00000358365,;RHOT1,synonymous_variant,p.%3D,ENST00000545287,;RHOT1,synonymous_variant,p.%3D,ENST00000394692,;RHOT1,synonymous_variant,p.%3D,ENST00000333942,;RHOT1,intron_variant,,ENST00000584852,;RHOT1,intron_variant,,ENST00000580392,;RHOT1,intron_variant,,ENST00000582586,;RHOT1,3_prime_UTR_variant,,ENST00000584692,;RHOT1,3_prime_UTR_variant,,ENST00000581031,;RHOT1,3_prime_UTR_variant,,ENST00000578205,;UBL5P2,downstream_gene_variant,,ENST00000583788,;	2298	28	28	SUCCESS
ZZEF1	23140	.	GRCh37	17	3957431	3957431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	40	0	ENST00000381638.2:c.5354G>T	p.Gly1785Val	p.G1785V	ENST00000381638	NM_015113.3	1785	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS11043.1	5354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCCATCA	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00291,Pfam_domain:PF00569,hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3,PROSITE_profiles:PS50135	.	.	ENSP00000371051	.	34/55	.	.	.	.	.	.	.	.	.	34/55	PASS	ENST00000381638	Transcript	.	.	ENSG00000074755	29027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZZEF1_HUMAN	ZZEF1	HGNC	.	.	UPI00004569F7	SNV	ZZEF1,missense_variant,p.Gly173Val,ENST00000573183,;ZZEF1,missense_variant,p.Gly1785Val,ENST00000381638,;RNA5SP434,downstream_gene_variant,,ENST00000516647,;ZZEF1,3_prime_UTR_variant,,ENST00000571436,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000572426,;	5479	40	46	SUCCESS
GPATCH8	23131	.	GRCh37	17	42476035	42476035	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	30	0	ENST00000591680.1:c.3410del	p.Pro1137HisfsTer11	p.P1137Hfs*11	ENST00000591680	NM_001002909.2	1137	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS32666.1	3410	VARSCANI*|PINDEL	.	AGAGATGGGGGG	NONE	.	.	hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11	.	.	ENSP00000467556	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000591680	Transcript	.	.	ENSG00000186566	29066	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPTC8_HUMAN	GPATCH8	HGNC	.	.	UPI0000237985	deletion	GPATCH8,frameshift_variant,p.Pro1137HisfsTer11,ENST00000591680,;GPATCH8,frameshift_variant,p.Pro1059HisfsTer11,ENST00000434000,;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,downstream_gene_variant,,ENST00000590041,;	3441	30	36	SUCCESS
CXCL16	58191	.	GRCh37	17	4642567	4642567	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs143565057	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	48	0	ENST00000293778.6:c.125T>C	p.Leu42Pro	p.L42P	ENST00000293778	NM_022059.2	42	cTg/cCg	0	G:0	C:0	.	C:0.0014	.	G	L/P	protein_coding	YES	CCDS11052.1	125	RADIA|VARSCANS	.	GAGTCAGGTAC	NONE	byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR14385	C:0	G:0.0001	ENSP00000293778	C:0	1/6	.	.	.	.	.	.	.	.	rs143565057	1/6	PASS	ENST00000293778	Transcript	.	C:0.0002	ENSG00000161921	16642	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	C:0	tolerated(0.09)	.	CXL16_HUMAN	CXCL16	HGNC	I3L333_HUMAN	.	UPI000013E11E	SNV	CXCL16,missense_variant,p.Leu42Pro,ENST00000574412,;CXCL16,missense_variant,p.Leu42Pro,ENST00000293778,;ZMYND15,upstream_gene_variant,,ENST00000269289,;ZMYND15,upstream_gene_variant,,ENST00000433935,;ZMYND15,upstream_gene_variant,,ENST00000592813,;CXCL16,upstream_gene_variant,,ENST00000573123,;ZMYND15,upstream_gene_variant,,ENST00000573751,;CXCL16,upstream_gene_variant,,ENST00000576153,;ZMYND15,upstream_gene_variant,,ENST00000571782,;CXCL16,upstream_gene_variant,,ENST00000575168,;ZMYND15,upstream_gene_variant,,ENST00000574829,;	548	48	31	SUCCESS
C17orf77	146723	.	GRCh37	17	72588235	72588235	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs976702325	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	36	0	ENST00000392620.1:c.50A>G	p.Asn17Ser	p.N17S	ENST00000392620	NM_152460.2	17	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS32721.1	50	RADIA|VARSCANS	.	TGAGAACAGAG	NONE	.	.	.	.	.	ENSP00000376396	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000392620	Transcript	.	.	ENSG00000182352	26480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.486)	.	tolerated_low_confidence(0.09)	.	CQ077_HUMAN	C17orf77	HGNC	E9PQI6_HUMAN	.	UPI00002001C6	SNV	C17orf77,missense_variant,p.Asn17Ser,ENST00000328023,;C17orf77,missense_variant,p.Asn17Ser,ENST00000392620,;C17orf77,missense_variant,p.Asn17Ser,ENST00000524389,;CD300LD,intron_variant,,ENST00000375352,;	412	36	36	SUCCESS
AFG3L2	10939	.	GRCh37	18	12329714	12329717	+	frameshift_variant	Frame_Shift_Del	DEL	TCTG	TCTG	CCT	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	TCTG	TCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	78	0	ENST00000269143.3:c.2241_2244delinsAGG	p.Arg748GlyfsTer93	p.R748Gfs*93	ENST00000269143	NM_006796.2	747	ccCAGA/ccAGG	0	.	.	.	.	.	CCT	PR/PX	protein_coding	YES	CCDS11859.1	2241-2244	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|RADIA*|VARSCANS*	.	AAATGGTCTGGGGCC	NONE	.	.	HAMAP:MF_01458,hmmpanther:PTHR23076:SF45,hmmpanther:PTHR23076,Superfamily_domains:SSF140990	.	.	ENSP00000269143	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000269143	Transcript	.	.	ENSG00000141385	315	.	.	HIGH	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	AFG32_HUMAN	AFG3L2	HGNC	D3DUJ0_HUMAN	.	UPI000013D7FF	substitution	AFG3L2,frameshift_variant,p.Arg748GlyfsTer93,ENST00000269143,;TUBB6,3_prime_UTR_variant,,ENST00000591909,;TUBB6,intron_variant,,ENST00000590967,;TUBB6,intron_variant,,ENST00000586691,;TUBB6,downstream_gene_variant,,ENST00000592683,;TUBB6,downstream_gene_variant,,ENST00000586653,;TUBB6,downstream_gene_variant,,ENST00000591208,;TUBB6,downstream_gene_variant,,ENST00000591463,;TUBB6,downstream_gene_variant,,ENST00000590103,;TUBB6,downstream_gene_variant,,ENST00000590693,;TUBB6,downstream_gene_variant,,ENST00000317702,;TUBB6,downstream_gene_variant,,ENST00000417736,;TUBB6,downstream_gene_variant,,ENST00000586810,;TUBB6,downstream_gene_variant,,ENST00000590388,;	2473-2476	78	100	SUCCESS
CDH2	1000	.	GRCh37	18	25591881	25591881	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	70	0	ENST00000269141.3:c.475A>G	p.Arg159Gly	p.R159G	ENST00000269141	NM_001792.3	159	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS11891.1	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTCTTCT	NONE	.	.	hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Superfamily_domains:SSF49313	.	.	ENSP00000269141	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000269141	Transcript	.	.	ENSG00000170558	1759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CADH2_HUMAN	CDH2	HGNC	C9JMH2_HUMAN,C9J126_HUMAN	.	UPI000013D7FD	SNV	CDH2,missense_variant,p.Arg108Gly,ENST00000418492,;CDH2,missense_variant,p.Arg128Gly,ENST00000399380,;CDH2,missense_variant,p.Arg159Gly,ENST00000269141,;CDH2,missense_variant,p.Arg74Gly,ENST00000430882,;CDH2,downstream_gene_variant,,ENST00000413878,;	899	70	81	SUCCESS
LPIN2	9663	.	GRCh37	18	2920361	2920361	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201160155	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	37	0	ENST00000261596.4:c.2621G>T	p.Cys874Phe	p.C874F	ENST00000261596	NM_014646.2	874	tGc/tTc	0	A:0	A:0	.	A:0	.	A	C/F	protein_coding	YES	CCDS11829.1	2621	RADIA|VARSCANS	.	CCGGGCAGGGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11	A:0	A:0.0002	ENSP00000261596	A:0	20/20	.	.	.	.	.	.	.	.	rs201160155	20/20	common_in_exac	ENST00000261596	Transcript	.	A:0.0018	ENSG00000101577	14450	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	A:0.0092	tolerated(0.19)	.	LPIN2_HUMAN	LPIN2	HGNC	J3KTK1_HUMAN	.	UPI000012E865	SNV	LPIN2,missense_variant,p.Cys874Phe,ENST00000261596,;EMILIN2,downstream_gene_variant,,ENST00000254528,;RP11-737O24.5,upstream_gene_variant,,ENST00000608032,;	2860	37	31	SUCCESS
DLGAP1	9229	.	GRCh37	18	3742341	3742341	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	22	0	ENST00000315677.3:c.1344C>A	p.Ile448=	p.I448=	ENST00000315677	NM_004746.3	448	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11836.1	1344	RADIA|VARSCANS	.	TGGCTGATGGT	NONE	.	.	hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353	.	.	ENSP00000316377	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000315677	Transcript	.	.	ENSG00000170579	2905	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLGP1_HUMAN	DLGAP1	HGNC	.	.	UPI0000129490	SNV	DLGAP1,synonymous_variant,p.%3D,ENST00000581527,;DLGAP1,synonymous_variant,p.%3D,ENST00000315677,;DLGAP1,synonymous_variant,p.%3D,ENST00000400149,;DLGAP1,synonymous_variant,p.%3D,ENST00000584874,;DLGAP1,synonymous_variant,p.%3D,ENST00000400145,;DLGAP1,synonymous_variant,p.%3D,ENST00000400150,;DLGAP1,synonymous_variant,p.%3D,ENST00000400155,;DLGAP1,synonymous_variant,p.%3D,ENST00000400147,;DLGAP1,synonymous_variant,p.%3D,ENST00000539435,;DLGAP1,synonymous_variant,p.%3D,ENST00000515196,;DLGAP1,synonymous_variant,p.%3D,ENST00000534970,;DLGAP1,synonymous_variant,p.%3D,ENST00000581699,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000485480,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000478161,;	1940	22	31	SUCCESS
ZNF532	55205	.	GRCh37	18	56585829	56585829	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	53	0	ENST00000336078.4:c.310A>G	p.Lys104Glu	p.K104E	ENST00000336078	NM_018181.4	104	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11969.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTAAAGAT	NONE	.	.	hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374	.	.	ENSP00000338217	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000336078	Transcript	.	.	ENSG00000074657	30940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	tolerated(0.05)	.	ZN532_HUMAN	ZNF532	HGNC	K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN	.	UPI000013D30C	SNV	ZNF532,missense_variant,p.Lys104Glu,ENST00000588456,;ZNF532,missense_variant,p.Lys104Glu,ENST00000590287,;ZNF532,missense_variant,p.Lys104Glu,ENST00000589288,;ZNF532,missense_variant,p.Lys104Glu,ENST00000591083,;ZNF532,missense_variant,p.Lys104Glu,ENST00000591049,;ZNF532,missense_variant,p.Lys104Glu,ENST00000591230,;ZNF532,missense_variant,p.Lys104Glu,ENST00000589481,;ZNF532,missense_variant,p.Lys104Glu,ENST00000592452,;ZNF532,missense_variant,p.Lys133Glu,ENST00000587755,;ZNF532,missense_variant,p.Lys104Glu,ENST00000591808,;ZNF532,missense_variant,p.Lys104Glu,ENST00000336078,;ZNF532,upstream_gene_variant,,ENST00000586997,;ZNF532,downstream_gene_variant,,ENST00000590285,;ZNF532,downstream_gene_variant,,ENST00000586085,;ZNF532,downstream_gene_variant,,ENST00000588601,;ZNF532,downstream_gene_variant,,ENST00000588543,;ZNF532,upstream_gene_variant,,ENST00000589156,;ZNF532,upstream_gene_variant,,ENST00000590157,;	1086	53	65	SUCCESS
ZNF569	148266	.	GRCh37	19	37935820	37935820	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	17	0	ENST00000316950.6:c.4A>G	p.Thr2Ala	p.T2A	ENST00000316950	NM_152484.2	2	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS12503.1	4	RADIA|VARSCANS	.	CTCAGTCATTT	NONE	.	.	Superfamily_domains:0044637	.	.	ENSP00000325018	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000316950	Transcript	.	.	ENSG00000196437	24737	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.12)	.	ZN569_HUMAN	ZNF569	HGNC	Q17RR6_HUMAN	.	UPI0000202203	SNV	ZNF569,missense_variant,p.Thr26Ala,ENST00000591710,;ZNF569,missense_variant,p.Thr2Ala,ENST00000316950,;ZNF569,missense_variant,p.Thr26Ala,ENST00000448051,;ZNF569,missense_variant,p.Thr2Ala,ENST00000592490,;ZNF569,missense_variant,p.Thr2Ala,ENST00000392149,;ZNF569,missense_variant,p.Thr26Ala,ENST00000589833,;ZNF569,5_prime_UTR_variant,,ENST00000392150,;ZNF569,non_coding_transcript_exon_variant,,ENST00000591073,;	562	17	34	SUCCESS
PRKD2	25865	.	GRCh37	19	47207834	47207834	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	26	0	ENST00000291281.4:c.584G>A	p.Arg195His	p.R195H	ENST00000291281		195	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12689.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCGCCGT	NONE	.	.	PIRSF_domain:PIRSF000552,Gene3D:3.30.60.20,hmmpanther:PTHR22968	.	.	ENSP00000393978	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	deleterious(0.01)	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,missense_variant,p.Arg195His,ENST00000595515,;PRKD2,missense_variant,p.Arg38His,ENST00000600194,;PRKD2,missense_variant,p.Arg38His,ENST00000601806,;PRKD2,missense_variant,p.Arg195His,ENST00000433867,;PRKD2,missense_variant,p.Arg195His,ENST00000291281,;PRKD2,missense_variant,p.Arg38His,ENST00000595132,;PRKD2,intron_variant,,ENST00000601605,;PRKD2,downstream_gene_variant,,ENST00000598633,;MIR320E,downstream_gene_variant,,ENST00000390179,;PRKD2,3_prime_UTR_variant,,ENST00000597641,;	1062	26	36	SUCCESS
SPHK2	56848	.	GRCh37	19	49131441	49131441	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775661505	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	32	0	ENST00000245222.4:c.779G>A	p.Arg260His	p.R260H	ENST00000245222	NM_001204158.2	260	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12727.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGCCCTG	NONE	byFrequency	.	Superfamily_domains:SSF111331,SMART_domains:SM00046,Pfam_domain:PF00781,hmmpanther:PTHR12358:SF12,hmmpanther:PTHR12358,PROSITE_profiles:PS50146	.	.	ENSP00000245222	.	6/7	.	.	.	.	.	.	.	.	rs775661505	6/7	PASS	ENST00000245222	Transcript	.	.	ENSG00000063176	18859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPHK2_HUMAN	SPHK2	HGNC	Q8N2M3_HUMAN,M0R0E9_HUMAN,M0QZP3_HUMAN,M0QXX5_HUMAN	.	UPI0000135E14	SNV	SPHK2,missense_variant,p.Arg224His,ENST00000340932,;SPHK2,missense_variant,p.Arg224His,ENST00000599748,;SPHK2,missense_variant,p.Arg260His,ENST00000245222,;SPHK2,missense_variant,p.Arg224His,ENST00000601712,;SPHK2,missense_variant,p.Arg260His,ENST00000598088,;SPHK2,missense_variant,p.Arg201His,ENST00000600537,;SPHK2,missense_variant,p.Arg322His,ENST00000443164,;SPHK2,missense_variant,p.Arg224His,ENST00000599029,;SPHK2,downstream_gene_variant,,ENST00000601704,;DBP,downstream_gene_variant,,ENST00000601104,;DBP,downstream_gene_variant,,ENST00000222122,;SPHK2,downstream_gene_variant,,ENST00000593308,;DBP,downstream_gene_variant,,ENST00000593500,;DBP,downstream_gene_variant,,ENST00000599385,;AC022154.7,upstream_gene_variant,,ENST00000594850,;AC022154.7,upstream_gene_variant,,ENST00000600303,;AC022154.7,upstream_gene_variant,,ENST00000598735,;SPHK2,downstream_gene_variant,,ENST00000599033,;SPHK2,missense_variant,p.Arg224His,ENST00000597434,;SPHK2,3_prime_UTR_variant,,ENST00000426514,;DBP,downstream_gene_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000598574,;	1145	32	25	SUCCESS
ZNF416	55659	.	GRCh37	19	58084146	58084146	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	77	0	ENST00000196489.3:c.1126C>G	p.His376Asp	p.H376D	ENST00000196489	NM_017879.1	376	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS12954.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGAGTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF15,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000196489	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000196489	Transcript	.	.	ENSG00000083817	20645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN416_HUMAN	ZNF416	HGNC	.	.	UPI000007314D	SNV	ZNF416,missense_variant,p.His376Asp,ENST00000196489,;	1349	77	103	SUCCESS
MIR200A	406983	.	GRCh37	1	1103284	1103284	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs202051309	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	55	0	ENST00000384875.1:n.42C>G		p.*14*	ENST00000384875				0	T:0.0006	T:0	.	T:0	.	G	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCCAGCT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.001	.	T:0.005	1/1	.	.	.	.	.	.	.	.	rs202051309	1/1	PASS	ENST00000384875	Transcript	.	T:0.0014	ENSG00000207607	31578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	.	MIR200A	HGNC	.	.	.	SNV	MIR200A,non_coding_transcript_exon_variant,,ENST00000384875,;MIR200B,downstream_gene_variant,,ENST00000384997,;RP11-465B22.8,upstream_gene_variant,,ENST00000606993,;MIR429,upstream_gene_variant,,ENST00000362106,;	42	55	41	SUCCESS
NOTCH2	4853	.	GRCh37	1	120529697	120529697	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	17	0	ENST00000256646.2:c.760G>A	p.Gly254Arg	p.G254R	ENST00000256646	NM_024408.3	254	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS908.1	760	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCTTCAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF4,hmmpanther:PTHR24033,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00179,PIRSF_domain:PIRSF002279,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000256646	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000256646	Transcript	.	.	ENSG00000134250	7882	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NOTC2_HUMAN	NOTCH2	HGNC	Q9UFD5_HUMAN,Q13560_HUMAN	.	UPI000013CF1D	SNV	NOTCH2,missense_variant,p.Gly254Arg,ENST00000256646,;NOTCH2,non_coding_transcript_exon_variant,,ENST00000479412,;	980	17	24	SUCCESS
ANKRD45	339416	.	GRCh37	1	173596300	173596300	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	32	0	ENST00000333279.2:c.497-2A>G		p.X166_splice	ENST00000333279	NM_198493.2	166		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1309.1	.	RADIA|VARSCANS	.	GCATCTGAAAG	NONE	.	.	.	.	.	ENSP00000331268	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333279	Transcript	.	.	ENSG00000183831	24786	.	.	HIGH	3/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANR45_HUMAN	ANKRD45	HGNC	.	.	UPI000019851A	SNV	ANKRD45,splice_acceptor_variant,,ENST00000333279,;	.	32	29	SUCCESS
TNR	7143	.	GRCh37	1	175372511	175372511	+	synonymous_variant	Silent	SNP	G	G	A	rs756995159	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	32	0	ENST00000263525.2:c.741C>T	p.Asp247=	p.D247=	ENST00000263525	NM_003285.2	247	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS1318.1	741	RADIA|SOMATICSNIPER|VARSCANS	.	TCCCCGTCCAC	NONE	byFrequency	.	hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000356646	.	4/23	.	.	.	.	.	.	.	.	rs756995159,COSM1473024	4/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,synonymous_variant,p.%3D,ENST00000367674,;TNR,synonymous_variant,p.%3D,ENST00000263525,;TNR,intron_variant,,ENST00000422274,;	1450	33	41	SUCCESS
KIF14	9928	.	GRCh37	1	200544771	200544771	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	22	0	ENST00000367350.4:c.3514del	p.Glu1172AsnfsTer22	p.E1172Nfs*22	ENST00000367350	NM_014875.2	1172	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS30963.1	3514	RADIA*|PINDEL	.	CCCATTCATCTT	NONE	.	.	hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115	.	.	ENSP00000356319	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	deletion	KIF14,frameshift_variant,p.Glu1172AsnfsTer22,ENST00000367350,;	3953	22	32	SUCCESS
LGR6	59352	.	GRCh37	1	202287962	202287962	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374809410	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	43	0	ENST00000367278.3:c.2531G>A	p.Arg844His	p.R844H	ENST00000367278	NM_001017403.1	844	cGc/cAc	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS30971.1	2531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCGCAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF81321,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12	.	A:0.0001	ENSP00000356247	.	18/18	.	.	.	.	.	.	.	.	rs374809410	18/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.21)	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,missense_variant,p.Arg792His,ENST00000255432,;LGR6,missense_variant,p.Arg844His,ENST00000367278,;LGR6,missense_variant,p.Arg705His,ENST00000439764,;LGR6,3_prime_UTR_variant,,ENST00000487787,;	2620	43	34	SUCCESS
ABCB10	23456	.	GRCh37	1	229666102	229666102	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773222168	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	49	0	ENST00000344517.4:c.1489G>A	p.Val497Met	p.V497M	ENST00000344517	NM_012089.2	497	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS1580.1	1489	RADIA|VARSCANS	.	ATGCACGTTCT	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221:SF121,hmmpanther:PTHR24221,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000355637	.	8/13	.	.	.	.	.	.	.	.	rs773222168	8/13	PASS	ENST00000344517	Transcript	.	.	ENSG00000135776	41	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	ABCBA_HUMAN	ABCB10	HGNC	Q6ZMF8_HUMAN	.	UPI000013CFBF	SNV	ABCB10,missense_variant,p.Val497Met,ENST00000344517,;RNU4-21P,downstream_gene_variant,,ENST00000362802,;ABCB10,non_coding_transcript_exon_variant,,ENST00000486755,;	1532	49	41	SUCCESS
EPHB2	2048	.	GRCh37	1	23234452	23234452	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751896309	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	52	0	ENST00000400191.3:c.2143G>A	p.Asp715Asn	p.D715N	ENST00000400191	NM_004442.6	715	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS230.1	2146	RADIA|VARSCANS	.	AAAACGATGGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000363763	.	12/16	.	.	.	.	.	.	.	.	rs751896309	12/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.758)	.	deleterious(0)	.	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,missense_variant,p.Asp710Asn,ENST00000374627,;EPHB2,missense_variant,p.Asp716Asn,ENST00000374632,;EPHB2,missense_variant,p.Asp715Asn,ENST00000400191,;EPHB2,missense_variant,p.Asp715Asn,ENST00000374630,;	2159	52	36	SUCCESS
ACTN2	88	.	GRCh37	1	236924459	236924459	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	42	0	ENST00000366578.4:c.2512C>T	p.Leu838=	p.L838=	ENST00000366578	NM_001278344.1	838	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1613.1	2512	RADIA|VARSCANS	.	GGATCCTGGCT	NONE	.	.	Superfamily_domains:SSF47473,Pfam_domain:PF08726,Gene3D:1.10.238.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236	.	.	ENSP00000355537	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,synonymous_variant,p.%3D,ENST00000542672,;ACTN2,synonymous_variant,p.%3D,ENST00000366578,;ACTN2,synonymous_variant,p.%3D,ENST00000546208,;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	2678	42	37	SUCCESS
MAP3K6	9064	.	GRCh37	1	27690041	27690041	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	10	0	ENST00000357582.2:c.865-2A>G		p.X289_splice	ENST00000357582		289		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS299.1	.	RADIA|VARSCANS	.	AGTCCTGCATC	NONE	.	.	.	.	.	ENSP00000419591	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000493901	Transcript	.	.	ENSG00000142733	6858	.	.	HIGH	6/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M3K6_HUMAN	MAP3K6	HGNC	Q32MQ5_HUMAN	.	UPI0000205587	SNV	MAP3K6,splice_acceptor_variant,,ENST00000374040,;MAP3K6,splice_acceptor_variant,,ENST00000357582,;MAP3K6,splice_acceptor_variant,,ENST00000472410,;MAP3K6,splice_acceptor_variant,,ENST00000493901,;	.	10	20	SUCCESS
GBP4	115361	.	GRCh37	1	89664501	89664501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	22	0	ENST00000355754.6:c.17T>C	p.Leu6Pro	p.L6P	ENST00000355754	NM_052941.4	6	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS721.1	17	RADIA|VARSCANS	.	CGTGAAGAGTT	NONE	.	.	hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17	.	.	ENSP00000359490	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000355754	Transcript	.	.	ENSG00000162654	20480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	deleterious_low_confidence(0.03)	.	GBP4_HUMAN	GBP4	HGNC	B4E2F1_HUMAN	.	UPI000013E1A4	SNV	GBP4,missense_variant,p.Leu6Pro,ENST00000355754,;	115	22	28	SUCCESS
XRN2	22803	.	GRCh37	20	21346075	21346075	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	98	0	ENST00000377191.3:c.2272C>T	p.Pro758Ser	p.P758S	ENST00000377191	NM_012255.3	758	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS13144.1	2272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCCACAG	NONE	.	.	hmmpanther:PTHR12341,PIRSF_domain:PIRSF037239	.	.	ENSP00000366396	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,missense_variant,p.Pro704Ser,ENST00000539513,;XRN2,missense_variant,p.Pro682Ser,ENST00000430571,;XRN2,missense_variant,p.Pro758Ser,ENST00000377191,;	2367	98	83	SUCCESS
UQCC1	55245	.	GRCh37	20	33902530	33902530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	47	0	ENST00000374385.5:c.612G>T	p.Met204Ile	p.M204I	ENST00000374385	NM_018244.4	204	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS13252.1	612	RADIA|VARSCANS	.	TTTGTCATGAG	NONE	.	.	hmmpanther:PTHR12184:SF1,hmmpanther:PTHR12184,Pfam_domain:PF03981	.	.	ENSP00000363506	.	8/10	.	.	.	.	.	.	.	.	.	8/10	oxog	ENST00000374385	Transcript	.	.	ENSG00000101019	15891	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.309)	.	deleterious(0.01)	.	UQCC1_HUMAN	UQCC1	HGNC	Q3KRB6_HUMAN,B7Z314_HUMAN,B7Z1C6_HUMAN	.	UPI0000206264	SNV	UQCC1,missense_variant,p.Met124Ile,ENST00000359226,;UQCC1,missense_variant,p.Met136Ile,ENST00000374380,;UQCC1,missense_variant,p.Met49Ile,ENST00000540457,;UQCC1,missense_variant,p.Met177Ile,ENST00000349714,;UQCC1,missense_variant,p.Met92Ile,ENST00000374377,;UQCC1,missense_variant,p.Met218Ile,ENST00000438533,;UQCC1,missense_variant,p.Met172Ile,ENST00000424405,;UQCC1,missense_variant,p.Met105Ile,ENST00000397556,;UQCC1,missense_variant,p.Met204Ile,ENST00000374385,;UQCC1,3_prime_UTR_variant,,ENST00000542501,;UQCC1,intron_variant,,ENST00000407996,;UQCC1,intron_variant,,ENST00000374384,;UQCC1,non_coding_transcript_exon_variant,,ENST00000473982,;UQCC1,3_prime_UTR_variant,,ENST00000457259,;UQCC1,3_prime_UTR_variant,,ENST00000374394,;UQCC1,3_prime_UTR_variant,,ENST00000443429,;UQCC1,non_coding_transcript_exon_variant,,ENST00000497717,;UQCC1,intron_variant,,ENST00000453855,;	790	47	39	SUCCESS
AGPAT3	56894	.	GRCh37	21	45397947	45397947	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	43	0	ENST00000291572.8:c.788T>C	p.Ile263Thr	p.I263T	ENST00000291572	NM_020132.4	263	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS13703.1	788	RADIA|VARSCANS	.	AGACATCCCGC	NONE	.	.	hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF9	.	.	ENSP00000381140	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000398063	Transcript	.	.	ENSG00000160216	326	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.517)	.	deleterious(0.01)	.	PLCC_HUMAN	AGPAT3	HGNC	C9JQX8_HUMAN,C9JL26_HUMAN,C9JK35_HUMAN,C9J184_HUMAN	.	UPI000004616E	SNV	AGPAT3,missense_variant,p.Ile263Thr,ENST00000398061,;AGPAT3,missense_variant,p.Ile263Thr,ENST00000546158,;AGPAT3,missense_variant,p.Ile263Thr,ENST00000398063,;AGPAT3,missense_variant,p.Ile263Thr,ENST00000327505,;AGPAT3,missense_variant,p.Ile263Thr,ENST00000398058,;AGPAT3,missense_variant,p.Ile263Thr,ENST00000291572,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000479117,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000484865,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000467358,;	1280	43	29	SUCCESS
LZTR1	8216	.	GRCh37	22	21350269	21350269	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765187155	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	26	0	ENST00000215739.8:c.2087T>C	p.Phe696Ser	p.F696S	ENST00000215739	NM_006767.3	696	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS33606.1	2087	RADIA|MUTECT	.	CATGTTCCGGT	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000215739	.	18/21	.	.	.	.	.	.	.	.	rs765187155	18/21	PASS	ENST00000215739	Transcript	.	.	ENSG00000099949	6742	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	SNV	LZTR1,missense_variant,p.Phe696Ser,ENST00000215739,;LZTR1,missense_variant,p.Phe677Ser,ENST00000389355,;THAP7,downstream_gene_variant,,ENST00000399133,;LZTR1,upstream_gene_variant,,ENST00000415817,;THAP7,downstream_gene_variant,,ENST00000215742,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,3_prime_UTR_variant,,ENST00000452988,;LZTR1,3_prime_UTR_variant,,ENST00000439171,;LZTR1,3_prime_UTR_variant,,ENST00000415354,;LZTR1,non_coding_transcript_exon_variant,,ENST00000498649,;LZTR1,non_coding_transcript_exon_variant,,ENST00000491432,;LZTR1,non_coding_transcript_exon_variant,,ENST00000463909,;LZTR1,non_coding_transcript_exon_variant,,ENST00000495142,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000492480,;THAP7,downstream_gene_variant,,ENST00000488975,;THAP7,downstream_gene_variant,,ENST00000476667,;THAP7,downstream_gene_variant,,ENST00000498406,;THAP7,downstream_gene_variant,,ENST00000471073,;LZTR1,downstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000414985,;	2446	26	14	SUCCESS
PAX8	7849	.	GRCh37	2	113993092	113993092	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	65	0	ENST00000263334.5:c.899-12C>T		p.*300*	ENST00000263334		322		0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46398.1	966	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAGGAAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF10	.	.	ENSP00000395498	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000429538	Transcript	.	.	ENSG00000125618	8622	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAX8_HUMAN	PAX8	HGNC	R9W7C9_HUMAN	.	UPI0000071DEC	SNV	PAX8,synonymous_variant,p.%3D,ENST00000429538,;PAX8,intron_variant,,ENST00000263334,;PAX8,intron_variant,,ENST00000263335,;PAX8,intron_variant,,ENST00000397647,;PAX8,intron_variant,,ENST00000468980,;PAX8,intron_variant,,ENST00000348715,;PAX8,upstream_gene_variant,,ENST00000465084,;PAX8-AS1,intron_variant,,ENST00000456685,;PAX8-AS1,upstream_gene_variant,,ENST00000436293,;PAX8-AS1,upstream_gene_variant,,ENST00000556070,;PAX8-AS1,upstream_gene_variant,,ENST00000451179,;PAX8-AS1,upstream_gene_variant,,ENST00000431844,;PAX8-AS1,upstream_gene_variant,,ENST00000445745,;PAX8-AS1,upstream_gene_variant,,ENST00000422956,;PAX8-AS1,upstream_gene_variant,,ENST00000437551,;PAX8-AS1,upstream_gene_variant,,ENST00000333145,;PAX8-AS1,upstream_gene_variant,,ENST00000553869,;PAX8,3_prime_UTR_variant,,ENST00000497038,;PAX8,non_coding_transcript_exon_variant,,ENST00000554352,;PAX8,non_coding_transcript_exon_variant,,ENST00000485840,;PAX8-AS1,upstream_gene_variant,,ENST00000555766,;	1161	65	65	SUCCESS
PLA2R1	22925	.	GRCh37	2	160804063	160804063	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	68	0	ENST00000283243.7:c.3717A>G	p.Arg1239=	p.R1239=	ENST00000283243	NM_001195641.1	1239	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS33309.1	3717	RADIA|MUTECT|MUSE|VARSCANS	.	GATTGTCTTGT	NONE	.	.	hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10	.	.	ENSP00000283243	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,synonymous_variant,p.%3D,ENST00000283243,;PLA2R1,synonymous_variant,p.%3D,ENST00000392771,;PLA2R1,upstream_gene_variant,,ENST00000460710,;	3924	69	105	SUCCESS
SP5	389058	.	GRCh37	2	171573770	171573770	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	29	0	ENST00000375281.3:c.1053G>A	p.Thr351=	p.T351=	ENST00000375281	NM_001003845.2	351	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33322.1	1053	RADIA|VARSCANS	.	CACACGGGCGA	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF15,PROSITE_profiles:PS50157	.	.	ENSP00000364430	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375281	Transcript	.	.	ENSG00000204335	14529	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SP5_HUMAN	SP5	HGNC	.	.	UPI000015C8D6	SNV	SP5,synonymous_variant,p.%3D,ENST00000375281,;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;	1215	29	28	SUCCESS
TTN	7273	.	GRCh37	2	179430304	179430304	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202149931	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	60	0	ENST00000591111.1:c.75632G>A	p.Arg25211His	p.R25211H	ENST00000591111		25211	cGt/cAt	0	T:0.0005	T:0.0008	.	T:0	.	T	R/H	protein_coding	YES	CCDS59435.1	80555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	TGACACGGAAC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	T:0.0001	ENSP00000467141	T:0	326/363	.	.	.	.	.	.	.	.	rs202149931,COSM3971783,COSM3971782,COSM3971779,COSM3971781,COSM3971780	326/363	PASS	ENST00000589042	Transcript	.	T:0.0002	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	.	.	T:0	.	0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg17912His,ENST00000359218,;TTN,missense_variant,p.Arg25211His,ENST00000591111,;TTN,missense_variant,p.Arg26852His,ENST00000589042,;TTN,missense_variant,p.Arg17979His,ENST00000342175,;TTN,missense_variant,p.Arg24284His,ENST00000342992,;TTN,missense_variant,p.Arg17787His,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	80780	60	87	SUCCESS
TTN	7273	.	GRCh37	2	179610836	179610836	+	intron_variant	Intron	SNP	C	C	T	rs141483365	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	85	0	ENST00000591111.1:c.10361-4188G>A		p.*3454*	ENST00000591111				0	T:0	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS59435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCGCTAA	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000467141	T:0	.	.	.	.	.	.	.	.	.	rs141483365	.	PASS	ENST00000589042	Transcript	.	T:0.0002	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu5431Lys,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	.	85	96	SUCCESS
CD28	940	.	GRCh37	2	204591353	204591353	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	23	0	ENST00000324106.8:c.53-3C>T		p.X18_splice	ENST00000324106	NM_006139.3	18		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2361.1	.	RADIA|VARSCANS	.	TCCCCCAGGAA	NONE	.	.	.	.	.	ENSP00000324890	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324106	Transcript	.	.	ENSG00000178562	1653	.	.	LOW	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD28_HUMAN	CD28	HGNC	.	.	UPI0000043F4D	SNV	CD28,splice_region_variant,,ENST00000324106,;CD28,splice_region_variant,,ENST00000374481,;CD28,splice_region_variant,,ENST00000458610,;CD28,intron_variant,,ENST00000374478,;	.	23	39	SUCCESS
MRPL53	116540	.	GRCh37	2	74699826	74699826	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	29	0	ENST00000258105.7:c.-39A>T		p.*13*	ENST00000258105	NM_053050.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1944.1	.	RADIA|VARSCANS	.	GGAAGTGTCGC	NONE	.	.	.	.	.	ENSP00000258105	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258105	Transcript	.	.	ENSG00000204822	16684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RM53_HUMAN	MRPL53	HGNC	.	.	UPI000006ED10	SNV	MRPL53,5_prime_UTR_variant,,ENST00000258105,;CCDC142,downstream_gene_variant,,ENST00000393965,;CCDC142,downstream_gene_variant,,ENST00000290418,;MRPL53,upstream_gene_variant,,ENST00000409710,;CCDC142,3_prime_UTR_variant,,ENST00000454193,;CCDC142,downstream_gene_variant,,ENST00000497232,;CCDC142,downstream_gene_variant,,ENST00000473278,;MRPL53,upstream_gene_variant,,ENST00000468875,;MRPL53,upstream_gene_variant,,ENST00000467349,;CCDC142,downstream_gene_variant,,ENST00000486335,;	624	29	18	SUCCESS
CD96	10225	.	GRCh37	3	111319663	111319663	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	32	71	0	ENST00000283285.5:c.1037C>G	p.Ala346Gly	p.A346G	ENST00000283285	NM_198196.2	346	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS2959.1	1037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCCAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0,Pfam_domain:PF13927	.	.	ENSP00000283285	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000283285	Transcript	.	.	ENSG00000153283	16892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.08)	.	TACT_HUMAN	CD96	HGNC	U3KPT0_HUMAN	.	UPI000013DD36	SNV	CD96,missense_variant,p.Ala346Gly,ENST00000283285,;CD96,missense_variant,p.Ala330Gly,ENST00000438817,;CD96,missense_variant,p.Ala330Gly,ENST00000352690,;CD96,missense_variant,p.Ala330Gly,ENST00000494798,;	1168	71	57	SUCCESS
MRAS	22808	.	GRCh37	3	138117409	138117409	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	38	0	ENST00000289104.4:c.446A>G	p.Asn149Ser	p.N149S	ENST00000289104	NM_012219.4	149	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3100.1	446	RADIA|VARSCANS	.	ACACAATGTAG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF179,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000289104	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000289104	Transcript	.	.	ENSG00000158186	7227	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.16)	.	RASM_HUMAN	MRAS	HGNC	Q6FGP0_HUMAN,C9J8Q6_HUMAN,C9J601_HUMAN	.	UPI0000001253	SNV	MRAS,missense_variant,p.Asn73Ser,ENST00000464896,;MRAS,missense_variant,p.Asn149Ser,ENST00000474559,;MRAS,missense_variant,p.Asn149Ser,ENST00000423968,;MRAS,missense_variant,p.Asn149Ser,ENST00000289104,;MRAS,missense_variant,p.Asn73Ser,ENST00000494949,;MRAS,upstream_gene_variant,,ENST00000478647,;	1093	38	27	SUCCESS
IMPDH2	3615	.	GRCh37	3	49064263	49064263	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	49	0	ENST00000326739.4:c.676G>T	p.Asp226Tyr	p.D226Y	ENST00000326739	NM_000884.2	226	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2786.1	676	RADIA|VARSCANS	.	CAGGTCTGTCC	NONE	.	.	HAMAP:MF_01964,PROSITE_profiles:PS51371,hmmpanther:PTHR11911,hmmpanther:PTHR11911:SF64,Pfam_domain:PF00571,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000130,SMART_domains:SM00116,Superfamily_domains:SSF51412	.	.	ENSP00000321584	.	7/14	.	.	.	.	.	.	.	.	COSM13878	7/14	oxog	ENST00000326739	Transcript	.	.	ENSG00000178035	6053	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	IMDH2_HUMAN	IMPDH2	HGNC	Q6RUP9_HUMAN,Q6RUP8_HUMAN	.	UPI000004A47A	SNV	IMPDH2,missense_variant,p.Asp226Tyr,ENST00000326739,;IMPDH2,missense_variant,p.Asp158Tyr,ENST00000429182,;IMPDH2,missense_variant,p.Asp201Tyr,ENST00000442157,;QRICH1,downstream_gene_variant,,ENST00000424300,;QRICH1,downstream_gene_variant,,ENST00000357496,;NDUFAF3,downstream_gene_variant,,ENST00000395458,;QRICH1,downstream_gene_variant,,ENST00000395443,;NDUFAF3,downstream_gene_variant,,ENST00000451378,;NDUFAF3,downstream_gene_variant,,ENST00000326925,;NDUFAF3,downstream_gene_variant,,ENST00000326912,;RP13-131K19.6,upstream_gene_variant,,ENST00000607245,;DALRD3,upstream_gene_variant,,ENST00000492585,;DALRD3,upstream_gene_variant,,ENST00000496568,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000491610,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000462980,;IMPDH2,upstream_gene_variant,,ENST00000463903,;IMPDH2,upstream_gene_variant,,ENST00000484872,;IMPDH2,upstream_gene_variant,,ENST00000481274,;IMPDH2,upstream_gene_variant,,ENST00000466147,;QRICH1,downstream_gene_variant,,ENST00000489642,;IMPDH2,downstream_gene_variant,,ENST00000485500,;IMPDH2,downstream_gene_variant,,ENST00000496837,;NDUFAF3,downstream_gene_variant,,ENST00000480392,;IMPDH2,upstream_gene_variant,,ENST00000472328,;NDUFAF3,downstream_gene_variant,,ENST00000496152,;QRICH1,downstream_gene_variant,,ENST00000498392,;	716	49	42	SUCCESS
BAP1	8314	.	GRCh37	3	52439874	52439874	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs746045584	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	16	35	0	ENST00000460680.1:c.838C>T	p.Gln280Ter	p.Q280*	ENST00000460680	NM_004656.3	280	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS2853.1	838	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGTGACT	NONE	byFrequency	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	10/17	.	.	.	.	.	.	.	.	rs746045584,COSM159327	10/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,stop_gained,p.Gln262Ter,ENST00000296288,;BAP1,stop_gained,p.Gln280Ter,ENST00000460680,;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;BAP1,downstream_gene_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;	1310	35	26	SUCCESS
CCDC109B	0	.	GRCh37	4	110581513	110581513	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	52	0	ENST00000394650.4:c.338T>C	p.Phe113Ser	p.F113S	ENST00000394650	NM_017918.4	113	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS3683.2	338	RADIA|VARSCANS	.	CATCTTCACAG	NONE	.	.	Pfam_domain:PF04678,hmmpanther:PTHR13462:SF6,hmmpanther:PTHR13462	.	.	ENSP00000378145	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000394650	Transcript	.	.	ENSG00000005059	26076	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.314)	.	tolerated(0.06)	.	MCUB_HUMAN	CCDC109B	HGNC	.	.	UPI000037446B	SNV	CCDC109B,missense_variant,p.Phe113Ser,ENST00000394650,;CCDC109B,missense_variant,p.Phe92Ser,ENST00000452915,;CCDC109B,downstream_gene_variant,,ENST00000515114,;CCDC109B,non_coding_transcript_exon_variant,,ENST00000472310,;	471	52	34	SUCCESS
KIAA1109	84162	.	GRCh37	4	123238013	123238013	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	116	0	ENST00000264501.4:c.10666C>T	p.Leu3556=	p.L3556=	ENST00000264501		3556	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43267.1	10666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTGAAG	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	62/86	.	.	.	.	.	.	.	.	COSM3409036,COSM3409037	62/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,synonymous_variant,p.%3D,ENST00000438707,;KIAA1109,synonymous_variant,p.%3D,ENST00000455637,;KIAA1109,synonymous_variant,p.%3D,ENST00000264501,;KIAA1109,synonymous_variant,p.%3D,ENST00000388738,;KIAA1109,synonymous_variant,p.%3D,ENST00000419325,;KIAA1109,downstream_gene_variant,,ENST00000421930,;	11039	116	66	SUCCESS
INTU	27152	.	GRCh37	4	128590302	128590302	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	44	0	ENST00000335251.6:c.1084G>A	p.Val362Ile	p.V362I	ENST00000335251	NM_015693.3	362	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS34061.1	1084	RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGTTACT	NONE	.	.	hmmpanther:PTHR21082	.	.	ENSP00000334003	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000335251	Transcript	.	.	ENSG00000164066	29239	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.8)	.	INTU_HUMAN	INTU	HGNC	B3KVS6_HUMAN	.	UPI00001C1E05	SNV	INTU,missense_variant,p.Val362Ile,ENST00000296461,;INTU,missense_variant,p.Val362Ile,ENST00000335251,;INTU,missense_variant,p.Val362Ile,ENST00000503952,;INTU,missense_variant,p.Val362Ile,ENST00000503626,;	1187	44	42	SUCCESS
LARP1B	55132	.	GRCh37	4	129127674	129127674	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	35	0	ENST00000326639.6:c.2406del	p.Asp803ThrfsTer10	p.D803Tfs*10	ENST00000326639	NM_018078.3	801	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS3738.1	2401	VARSCANI*|PINDEL	.	GAAACCAAAAAA	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50,SMART_domains:SM00684	.	.	ENSP00000321997	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	5	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	deletion	LARP1B,frameshift_variant,p.Asp744ThrfsTer10,ENST00000264584,;LARP1B,frameshift_variant,p.Asp803ThrfsTer10,ENST00000326639,;LARP1B,frameshift_variant,p.Asp222ThrfsTer10,ENST00000354456,;LARP1B,intron_variant,,ENST00000441387,;LARP1B,non_coding_transcript_exon_variant,,ENST00000506199,;LARP1B,non_coding_transcript_exon_variant,,ENST00000503725,;LARP1B,intron_variant,,ENST00000508648,;LARP1B,3_prime_UTR_variant,,ENST00000507259,;	2612	35	29	SUCCESS
LRAT	9227	.	GRCh37	4	155665881	155665881	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139819099	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	30	0	ENST00000336356.3:c.403G>A	p.Ala135Thr	p.A135T	ENST00000336356	NM_004744.3	135	Gca/Aca	0	T:0.0005	T:0.0008	.	T:0	.	A	A/T	protein_coding	YES	CCDS3789.1	403	RADIA|VARSCANS	.	AAAAGGCACTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13943:SF1,hmmpanther:PTHR13943,Pfam_domain:PF04970	T:0	T:0.0013	ENSP00000337224	T:0.001	2/3	.	.	.	.	.	.	.	.	rs139819099	2/3	PASS	ENST00000336356	Transcript	1	T:0.0004	ENSG00000121207	6685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.597)	T:0	tolerated(0.08)	.	LRAT_HUMAN	LRAT	HGNC	D6RC94_HUMAN	.	UPI0000072711	SNV	LRAT,missense_variant,p.Ala135Thr,ENST00000507827,;LRAT,missense_variant,p.Ala135Thr,ENST00000336356,;LRAT,downstream_gene_variant,,ENST00000502525,;LRAT,intron_variant,,ENST00000499392,;LRAT,upstream_gene_variant,,ENST00000502474,;LRAT,upstream_gene_variant,,ENST00000510919,;LRAT,non_coding_transcript_exon_variant,,ENST00000510733,;	656	30	35	SUCCESS
TMEM128	85013	.	GRCh37	4	4249372	4249372	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	70	0	ENST00000382753.4:c.97+461G>A		p.*33*	ENST00000382753				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3373.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCCCTTT	NONE	.	.	.	.	.	ENSP00000254742	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000254742	Transcript	.	.	ENSG00000132406	28201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM128_HUMAN	TMEM128	HGNC	.	.	UPI0000073696	SNV	TMEM128,5_prime_UTR_variant,,ENST00000254742,;TMEM128,intron_variant,,ENST00000540397,;TMEM128,intron_variant,,ENST00000382753,;TMEM128,intron_variant,,ENST00000538516,;	568	70	40	SUCCESS
EVC2	132884	.	GRCh37	4	5620323	5620323	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780525637	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	44	0	ENST00000344408.5:c.2588A>G	p.Asp863Gly	p.D863G	ENST00000344408	NM_147127.4	863	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3382.2	2588	RADIA|VARSCANS	.	TCCTGTCCATC	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	15/22	.	.	.	.	.	.	.	.	rs780525637	15/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.Asp863Gly,ENST00000344938,;EVC2,missense_variant,p.Asp783Gly,ENST00000310917,;EVC2,missense_variant,p.Asp863Gly,ENST00000344408,;EVC2,missense_variant,p.Asp783Gly,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	2642	44	30	SUCCESS
C4orf50	389197	.	GRCh37	4	5975506	5975506	+	synonymous_variant	Silent	SNP	C	C	T	rs748123627	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	46	0	ENST00000324058.5:c.288G>A	p.Leu96=	p.L96=	ENST00000324058		96	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	.	1710	RADIA|VARSCANS	.	TCCTGCAGCAG	NONE	.	.	Pfam_domain:PF15030	.	.	ENSP00000437121	.	4/7	.	.	.	.	.	.	.	.	rs748123627	4/7	PASS	ENST00000531445	Transcript	.	.	ENSG00000181215	33766	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	C4orf50	HGNC	E9PNW5_HUMAN	.	UPI0001F7863C	SNV	C4orf50,synonymous_variant,p.%3D,ENST00000324058,;C4orf50,synonymous_variant,p.%3D,ENST00000531445,;	1757	46	30	SUCCESS
TMPRSS11F	389208	.	GRCh37	4	68995584	68995584	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	32	0	ENST00000356291.2:c.-46A>T		p.*16*	ENST00000356291	NM_207407.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3520.1	.	RADIA|VARSCANS	.	ATCTGTATCAG	NONE	.	.	.	.	.	ENSP00000348639	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000356291	Transcript	.	.	ENSG00000198092	29994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM11F_HUMAN	TMPRSS11F	HGNC	.	.	UPI0000251DE7	SNV	TMPRSS11F,5_prime_UTR_variant,,ENST00000356291,;	15	32	35	SUCCESS
REV3L	5980	.	GRCh37	6	111696640	111696640	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs183900471	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	43	0	ENST00000358835.3:c.2918C>A	p.Pro973His	p.P973H	ENST00000358835		973	cCt/cAt	0	.	A:0	.	A:0	.	T	P/H	protein_coding	YES	CCDS5091.2	2918	RADIA|VARSCANS	.	TGACAGGGGGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	A:0.001	.	ENSP00000351697	A:0	14/33	.	.	.	.	.	.	.	.	rs183900471	14/33	oxog	ENST00000358835	Transcript	.	A:0.0002	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	A:0	deleterious(0)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Pro895His,ENST00000435970,;REV3L,missense_variant,p.Pro973His,ENST00000358835,;REV3L,missense_variant,p.Pro973His,ENST00000368802,;REV3L,missense_variant,p.Pro973His,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	3373	43	37	SUCCESS
HIST1H4J	0	.	GRCh37	6	27791973	27791973	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	92	0	ENST00000355057.1:c.71G>A	p.Arg24His	p.R24H	ENST00000355057	NM_021968.3	24	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4630.1	71	RADIA|MUSE|VARSCANS	.	ACTGCGCGACA	NONE	.	.	hmmpanther:PTHR10484,Gene3D:1.10.20.10,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000347168	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355057	Transcript	.	.	ENSG00000197238	4785	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.065)	.	tolerated(0.05)	.	H4_HUMAN	HIST1H4J	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4J,missense_variant,p.Arg24His,ENST00000355057,;	90	92	73	SUCCESS
RIMS1	22999	.	GRCh37	6	72892264	72892264	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	110	0	ENST00000521978.1:c.1090T>G	p.Tyr364Asp	p.Y364D	ENST00000521978	NM_014989.5	364	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS47449.1	1090	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCGGTACCCG	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	6/34	.	.	.	.	.	.	.	.	.	6/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.698)	.	deleterious(0)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Tyr364Asp,ENST00000518273,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000491071,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000517960,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000522291,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000264839,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000348717,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000520567,;RIMS1,missense_variant,p.Tyr364Asp,ENST00000521978,;RIMS1,upstream_gene_variant,,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	1090	111	41	SUCCESS
STEAP1B	256227	.	GRCh37	7	22533059	22533059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	69	136	1	ENST00000406890.2:c.424A>G	p.Arg142Gly	p.R142G	ENST00000406890	NM_207342.2	142	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS56469.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTTGTTA	NONE	.	.	hmmpanther:PTHR14239:SF3,hmmpanther:PTHR14239,Pfam_domain:PF01794	.	.	ENSP00000384370	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000404369	Transcript	.	.	ENSG00000105889	41907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	STEAP1B	HGNC	C9JL51_HUMAN,C9JE84_HUMAN,B5MCI2_HUMAN	.	UPI000173A267	SNV	STEAP1B,missense_variant,p.Arg161Gly,ENST00000404369,;STEAP1B,missense_variant,p.Arg142Gly,ENST00000406890,;STEAP1B,missense_variant,p.Arg161Gly,ENST00000424363,;STEAP1B,missense_variant,p.Arg161Gly,ENST00000439708,;STEAP1B,non_coding_transcript_exon_variant,,ENST00000483679,;	897	137	168	SUCCESS
FOXK1	221937	.	GRCh37	7	4798696	4798701	+	frameshift_variant	Frame_Shift_Del	DEL	CGCCCA	CGCCCA	TTCCT	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	CGCCCA	CGCCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	34	0	ENST00000328914.4:c.1259_1264delinsTTCCT	p.Ser420PhefsTer7	p.S420Ffs*7	ENST00000328914	NM_001037165.1	420	tCGCCCAca/tTTCCTca	0	.	.	.	.	.	TTCCT	SPT/FPX	protein_coding	YES	CCDS34591.1	1259-1264	RADIA*|PINDEL	.	CAGCTTCGCCCACACAC	NONE	.	.	hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829	.	.	ENSP00000328720	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000328914	Transcript	.	.	ENSG00000164916	23480	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXK1_HUMAN	FOXK1	HGNC	B3KV39_HUMAN	.	UPI00004158EB	substitution	FOXK1,frameshift_variant,p.Ser257PhefsTer7,ENST00000446823,;FOXK1,frameshift_variant,p.Ser420PhefsTer7,ENST00000328914,;FOXK1,downstream_gene_variant,,ENST00000460979,;FOXK1,non_coding_transcript_exon_variant,,ENST00000496023,;	1259-1264	34	23	SUCCESS
PEG10	23089	.	GRCh37	7	94293687	94293687	+	synonymous_variant	Silent	SNP	G	G	A	rs767492854	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	33	0	ENST00000482108.1:c.819G>A	p.Pro273=	p.P273=	ENST00000482108	NM_001172437.1	273	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS55126.1	819	MUTECT|VARSCANS	.	GAGCCGGTGGG	NONE	byFrequency	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	rs767492854	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,synonymous_variant,p.%3D,ENST00000482108,;PEG10,synonymous_variant,p.%3D,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	1298	33	24	SUCCESS
SLC30A8	169026	.	GRCh37	8	118170071	118170071	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141202988	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	58	86	0	ENST00000456015.2:c.560C>T	p.Ala187Val	p.A187V	ENST00000456015	NM_173851.2	187	gCg/gTg	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS6322.1	560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCGGCCA	SITE|p.A187V|c.560C>T|4	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Superfamily_domains:0054606	.	T:0.0003	ENSP00000415011	.	4/8	.	.	.	.	.	.	.	.	rs141202988,COSM78516,COSM1569221	4/8	PASS	ENST00000456015	Transcript	1	.	ENSG00000164756	20303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.004)	.	tolerated(1)	0,1,1	ZNT8_HUMAN	SLC30A8	HGNC	E5RG87_HUMAN	.	UPI00001B00D6	SNV	SLC30A8,missense_variant,p.Ala138Val,ENST00000427715,;SLC30A8,missense_variant,p.Ala187Val,ENST00000456015,;SLC30A8,missense_variant,p.Ala138Val,ENST00000519688,;SLC30A8,missense_variant,p.Ala138Val,ENST00000521243,;SLC30A8,downstream_gene_variant,,ENST00000524274,;SLC30A8,downstream_gene_variant,,ENST00000518521,;	560	86	87	SUCCESS
SPIDR	23514	.	GRCh37	8	48614552	48614552	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	55	105	0	ENST00000297423.4:c.1952C>G	p.Ala651Gly	p.A651G	ENST00000297423	NM_001080394.2	651	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS43737.1	1952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGCCACGG	NONE	.	.	Pfam_domain:PF14951	.	.	ENSP00000297423	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000297423	Transcript	.	.	ENSG00000164808	28971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.707)	.	deleterious(0.03)	.	SPIDR_HUMAN	SPIDR	HGNC	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN	.	UPI0000253B92	SNV	SPIDR,missense_variant,p.Ala581Gly,ENST00000541342,;SPIDR,missense_variant,p.Ala651Gly,ENST00000297423,;SPIDR,missense_variant,p.Ala126Gly,ENST00000517693,;SPIDR,missense_variant,p.Ala333Gly,ENST00000519401,;SPIDR,missense_variant,p.Ala591Gly,ENST00000518074,;SPIDR,non_coding_transcript_exon_variant,,ENST00000518692,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000522321,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519141,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519362,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;	2336	105	118	SUCCESS
LRRC8A	56262	.	GRCh37	9	131678510	131678510	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752227637	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	28	0	ENST00000259324.5:c.2293C>T	p.Arg765Trp	p.R765W	ENST00000259324	NM_001127244.1	765	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS35155.1	2293	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCGGCTG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000259324	.	4/4	.	.	.	.	.	.	.	.	rs752227637	4/4	PASS	ENST00000259324	Transcript	.	.	ENSG00000136802	19027	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.12)	.	LRC8A_HUMAN	LRRC8A	HGNC	Q96SW8_HUMAN	.	UPI000004EF9E	SNV	LRRC8A,missense_variant,p.Arg765Trp,ENST00000259324,;LRRC8A,missense_variant,p.Arg765Trp,ENST00000372600,;LRRC8A,missense_variant,p.Arg765Trp,ENST00000372599,;PHYHD1,upstream_gene_variant,,ENST00000428610,;PHYHD1,upstream_gene_variant,,ENST00000372592,;LRRC8A,non_coding_transcript_exon_variant,,ENST00000492784,;PHYHD1,upstream_gene_variant,,ENST00000412476,;	2816	28	18	SUCCESS
FIBCD1	84929	.	GRCh37	9	133787241	133787241	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	36	0	ENST00000372338.4:c.884T>C	p.Phe295Ser	p.F295S	ENST00000372338	NM_032843.4	295	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS6937.1	884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAAGTTC	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF45,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000361413	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000372338	Transcript	.	.	ENSG00000130720	25922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FBCD1_HUMAN	FIBCD1	HGNC	A7YSM1_HUMAN,A3KFJ8_HUMAN	.	UPI0000049DF9	SNV	FIBCD1,missense_variant,p.Phe295Ser,ENST00000448616,;FIBCD1,missense_variant,p.Phe137Ser,ENST00000372337,;FIBCD1,missense_variant,p.Phe295Ser,ENST00000372338,;FIBCD1,missense_variant,p.Phe249Ser,ENST00000444139,;FIBCD1,missense_variant,p.Phe137Ser,ENST00000253018,;FIBCD1,downstream_gene_variant,,ENST00000451466,;	1127	36	19	SUCCESS
BNC2	54796	.	GRCh37	9	16436331	16436331	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779522917	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	60	0	ENST00000380672.4:c.1861C>T	p.His621Tyr	p.H621Y	ENST00000380672	NM_017637.5	621	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS6482.2	1861	RADIA|VARSCANS	.	CTCATGGGTGG	NONE	.	.	hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2	.	.	ENSP00000370047	.	6/7	.	.	.	.	.	.	.	.	rs779522917	6/7	PASS	ENST00000380672	Transcript	.	.	ENSG00000173068	30988	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.04)	.	deleterious(0.02)	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,missense_variant,p.His526Tyr,ENST00000545497,;BNC2,missense_variant,p.His554Tyr,ENST00000380667,;BNC2,missense_variant,p.His621Tyr,ENST00000380672,;BNC2,missense_variant,p.His621Tyr,ENST00000380666,;BNC2,missense_variant,p.His14Tyr,ENST00000411752,;BNC2,missense_variant,p.His578Tyr,ENST00000418777,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,missense_variant,p.His621Tyr,ENST00000484726,;	1919	60	39	SUCCESS
TSC22D3	1831	.	GRCh37	X	106959961	106959961	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	77	0	ENST00000372397.2:c.81T>A	p.Ser27=	p.S27=	ENST00000372397	NM_004089.3	27	tcT/tcA	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14530.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAGAAGA	NONE	.	.	.	.	.	ENSP00000361458	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372383	Transcript	.	.	ENSG00000157514	3051	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T22D3_HUMAN	TSC22D3	HGNC	Q5JRJ2_HUMAN,E7EWD5_HUMAN,D6RDZ9_HUMAN,D6RDZ7_HUMAN,D6RD92_HUMAN,D6RD37_HUMAN,D6RCK9_HUMAN,D6RBL1_HUMAN,D6RAX8_HUMAN,D6R8Z7_HUMAN,B4DU81_HUMAN	.	UPI000006DE94	SNV	TSC22D3,synonymous_variant,p.%3D,ENST00000372397,;TSC22D3,synonymous_variant,p.%3D,ENST00000503515,;TSC22D3,intron_variant,,ENST00000502650,;TSC22D3,intron_variant,,ENST00000510887,;TSC22D3,intron_variant,,ENST00000372384,;TSC22D3,intron_variant,,ENST00000480691,;TSC22D3,intron_variant,,ENST00000514897,;TSC22D3,intron_variant,,ENST00000506081,;TSC22D3,intron_variant,,ENST00000372382,;TSC22D3,intron_variant,,ENST00000315660,;TSC22D3,intron_variant,,ENST00000514426,;TSC22D3,intron_variant,,ENST00000372383,;TSC22D3,upstream_gene_variant,,ENST00000486554,;TSC22D3,upstream_gene_variant,,ENST00000372390,;	.	78	32	SUCCESS
ABCD1	215	.	GRCh37	X	152991039	152991039	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	49	0	ENST00000218104.3:c.318C>T	p.Phe106=	p.F106=	ENST00000218104	NM_000033.3	106	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS14728.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCCTGTC	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF21,Pfam_domain:PF06472,TIGRFAM_domain:TIGR00954,Superfamily_domains:SSF90123	.	.	ENSP00000218104	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000218104	Transcript	.	.	ENSG00000101986	61	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCD1_HUMAN	ABCD1	HGNC	.	.	UPI0000000DF5	SNV	ABCD1,synonymous_variant,p.%3D,ENST00000218104,;BCAP31,upstream_gene_variant,,ENST00000430088,;BCAP31,upstream_gene_variant,,ENST00000423827,;BCAP31,upstream_gene_variant,,ENST00000429550,;BCAP31,upstream_gene_variant,,ENST00000458587,;ABCD1,upstream_gene_variant,,ENST00000370129,;BCAP31,upstream_gene_variant,,ENST00000442093,;BCAP31,upstream_gene_variant,,ENST00000441714,;BCAP31,upstream_gene_variant,,ENST00000416815,;BCAP31,upstream_gene_variant,,ENST00000345046,;BCAP31,upstream_gene_variant,,ENST00000468947,;	717	49	25	SUCCESS
FAM47A	158724	.	GRCh37	X	34149594	34149594	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	54	62	0	ENST00000346193.3:c.802G>T	p.Asp268Tyr	p.D268Y	ENST00000346193	NM_203408.3	268	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS43926.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCCAGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(1)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Asp268Tyr,ENST00000346193,;	854	62	93	SUCCESS
PCDH11X	27328	.	GRCh37	X	91134323	91134323	+	intron_variant	Intron	SNP	T	T	C	rs767990169	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	18	0	ENST00000373094.1:c.3033+51T>C		p.*1011*	ENST00000373094	NM_032968.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14461.1	.	MUTECT|MUSE	.	TATTATTTTCA	NONE	byFrequency	.	.	.	.	ENSP00000362186	.	.	.	.	.	.	.	.	.	.	rs767990169	.	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,3_prime_UTR_variant,,ENST00000361724,;PCDH11X,intron_variant,,ENST00000373088,;PCDH11X,intron_variant,,ENST00000395337,;PCDH11X,intron_variant,,ENST00000298274,;PCDH11X,intron_variant,,ENST00000504220,;PCDH11X,intron_variant,,ENST00000406881,;PCDH11X,intron_variant,,ENST00000373094,;PCDH11X,intron_variant,,ENST00000373097,;PCDH11X,intron_variant,,ENST00000361655,;	.	18	22	SUCCESS
DOCK1	1793	.	GRCh37	10	129141983	129141983	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	80	0	ENST00000280333.6:c.3134G>A	p.Ser1045Asn	p.S1045N	ENST00000280333	NM_001380.3	1045	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	.	3134	RADIA|MUTECT|VARSCANS	.	TTCAAGTGCCA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79	.	.	ENSP00000280333	.	31/52	.	.	.	.	.	.	.	.	.	31/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.483)	.	tolerated(0.42)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Ser1045Asn,ENST00000280333,;DOCK1,non_coding_transcript_exon_variant,,ENST00000484400,;	3243	80	45	SUCCESS
ITGA8	8516	.	GRCh37	10	15658547	15658547	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1588677424	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	42	0	ENST00000378076.3:c.1411G>T	p.Gly471Cys	p.G471C	ENST00000378076	NM_003638.1	471	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31155.1	1411	RADIA|VARSCANS	.	TGCACCCACAA	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000367316	.	14/30	.	.	.	.	.	.	.	.	.	14/30	oxog	ENST00000378076	Transcript	1	.	ENSG00000077943	6144	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,missense_variant,p.Gly471Cys,ENST00000378076,;ITGA8,non_coding_transcript_exon_variant,,ENST00000468882,;	1765	42	42	SUCCESS
KIAA1217	56243	.	GRCh37	10	24762971	24762971	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767212277	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	30	0	ENST00000376454.3:c.1661C>A	p.Pro554His	p.P554H	ENST00000376454	NM_019590.3	554	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS31165.1	1661	RADIA|VARSCANS	.	AATACCCAAAG	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	6/21	.	.	.	.	.	.	.	.	rs767212277	6/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Pro475His,ENST00000430453,;KIAA1217,missense_variant,p.Pro554His,ENST00000376454,;KIAA1217,missense_variant,p.Pro272His,ENST00000396445,;KIAA1217,missense_variant,p.Pro272His,ENST00000307544,;KIAA1217,missense_variant,p.Pro272His,ENST00000396446,;KIAA1217,missense_variant,p.Pro272His,ENST00000376451,;KIAA1217,missense_variant,p.Pro554His,ENST00000376456,;KIAA1217,missense_variant,p.Pro554His,ENST00000376452,;KIAA1217,missense_variant,p.Pro474His,ENST00000376462,;KIAA1217,missense_variant,p.Pro404His,ENST00000438429,;KIAA1217,missense_variant,p.Pro554His,ENST00000458595,;	1691	30	31	SUCCESS
MBL2	4153	.	GRCh37	10	54531337	54531337	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	85	0	ENST00000373968.3:c.59C>A	p.Ser20Ter	p.S20*	ENST00000373968	NM_000242.2	20	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS7247.1	59	RADIA|VARSCANS	.	TTTCTGAGTAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF2	.	.	ENSP00000363079	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000373968	Transcript	1	.	ENSG00000165471	6922	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MBL2_HUMAN	MBL2	HGNC	Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN	.	UPI0000035011	SNV	MBL2,stop_gained,p.Ser20Ter,ENST00000373968,;	124	85	32	SUCCESS
HK1	3098	.	GRCh37	10	71148962	71148962	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	42	143	0	ENST00000359426.6:c.1945C>T	p.Leu649=	p.L649=	ENST00000359426	NM_000188.2	649	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7289.1	1957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACCTGGAC	NONE	.	.	hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF10,Gene3D:3.30.420.40,Pfam_domain:PF00349,Superfamily_domains:SSF53067	.	.	ENSP00000384774	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000404387	Transcript	1	.	ENSG00000156515	4922	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXK1_HUMAN	HK1	HGNC	P78542_HUMAN,B1AR61_HUMAN	.	UPI000013E945	SNV	HK1,synonymous_variant,p.%3D,ENST00000298649,;HK1,synonymous_variant,p.%3D,ENST00000448642,;HK1,synonymous_variant,p.%3D,ENST00000359426,;HK1,synonymous_variant,p.%3D,ENST00000404387,;HK1,synonymous_variant,p.%3D,ENST00000360289,;HK1,downstream_gene_variant,,ENST00000494253,;HK1,upstream_gene_variant,,ENST00000470050,;	1957	143	51	SUCCESS
KCNMA1	3778	.	GRCh37	10	79010979	79010979	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	47	0	ENST00000286628.8:c.576T>C	p.Leu192=	p.L192=	ENST00000286628	NM_001161352.1	192	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS53545.1	576	RADIA|VARSCANS	.	ATTACAAGTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10027:SF18,hmmpanther:PTHR10027,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000385806	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,synonymous_variant,p.%3D,ENST00000404857,;KCNMA1,synonymous_variant,p.%3D,ENST00000604624,;KCNMA1,synonymous_variant,p.%3D,ENST00000372437,;KCNMA1,synonymous_variant,p.%3D,ENST00000406533,;KCNMA1,synonymous_variant,p.%3D,ENST00000354353,;KCNMA1,synonymous_variant,p.%3D,ENST00000457953,;KCNMA1,synonymous_variant,p.%3D,ENST00000372408,;KCNMA1,synonymous_variant,p.%3D,ENST00000372443,;KCNMA1,synonymous_variant,p.%3D,ENST00000372403,;KCNMA1,synonymous_variant,p.%3D,ENST00000286627,;KCNMA1,synonymous_variant,p.%3D,ENST00000404771,;KCNMA1,synonymous_variant,p.%3D,ENST00000372440,;KCNMA1,synonymous_variant,p.%3D,ENST00000372421,;KCNMA1,synonymous_variant,p.%3D,ENST00000286628,;	576	47	28	SUCCESS
CCSER2	54462	.	GRCh37	10	86131991	86131991	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	61	0	ENST00000224756.8:c.1183G>T	p.Asp395Tyr	p.D395Y	ENST00000224756	NM_018999.2	395	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS31235.1	1183	RADIA|VARSCANS	.	ATGTGGATGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF2	.	.	ENSP00000224756	.	2/11	.	.	.	.	.	.	.	.	COSM920919	2/11	PASS	ENST00000224756	Transcript	.	.	ENSG00000107771	29197	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CCSE2_HUMAN	CCSER2	HGNC	B4DFY4_HUMAN	.	UPI00005E1AE0	SNV	CCSER2,missense_variant,p.Asp395Tyr,ENST00000359979,;CCSER2,missense_variant,p.Asp395Tyr,ENST00000372088,;CCSER2,missense_variant,p.Asp395Tyr,ENST00000224756,;	1368	61	52	SUCCESS
ZNF518A	9849	.	GRCh37	10	97918109	97918109	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	62	0	ENST00000316045.5:n.1034C>A		p.*345*	ENST00000316045				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	ACAACCAATTA	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000316045,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	2887	62	46	SUCCESS
C11orf1	64776	.	GRCh37	11	111753200	111753200	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	60	0	ENST00000260276.3:c.154C>T	p.Gln52Ter	p.Q52*	ENST00000260276	NM_022761.2	52	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS8350.1	154	RADIA|VARSCANS	.	TTTTCCAGTAT	NONE	.	.	Pfam_domain:PF06608	.	.	ENSP00000260276	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000260276	Transcript	.	.	ENSG00000137720	1163	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK001_HUMAN	C11orf1	HGNC	E9PLN1_HUMAN	.	UPI000004C5AE	SNV	C11orf1,stop_gained,p.Gln92Ter,ENST00000529270,;C11orf1,stop_gained,p.Gln52Ter,ENST00000260276,;C11orf1,stop_gained,p.Gln68Ter,ENST00000530799,;C11orf1,stop_gained,p.Gln52Ter,ENST00000530214,;C11orf1,stop_gained,p.Gln6Ter,ENST00000528125,;FDXACB1,upstream_gene_variant,,ENST00000528274,;FDXACB1,upstream_gene_variant,,ENST00000260257,;FDXACB1,upstream_gene_variant,,ENST00000542429,;ALG9,upstream_gene_variant,,ENST00000524880,;FDXACB1,upstream_gene_variant,,ENST00000531487,;	491	60	32	SUCCESS
TMEM218	219854	.	GRCh37	11	124972140	124972140	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs778764342	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9	22	0	ENST00000279968.4:c.-3G>A		p.*1*	ENST00000279968				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31715.1	.	RADIA|MUTECT	.	CATCCCGCGGG	NONE	byFrequency	.	.	.	.	ENSP00000399803	.	2/4	.	.	.	.	.	.	.	.	rs778764342	2/4	PASS	ENST00000455225	Transcript	.	.	ENSG00000150433	27344	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM218_HUMAN	TMEM218	HGNC	E9PQM6_HUMAN,E9PL96_HUMAN	.	UPI00001617A4	SNV	TMEM218,5_prime_UTR_variant,,ENST00000532156,;TMEM218,5_prime_UTR_variant,,ENST00000524373,;TMEM218,5_prime_UTR_variant,,ENST00000529530,;TMEM218,5_prime_UTR_variant,,ENST00000455225,;TMEM218,5_prime_UTR_variant,,ENST00000528724,;TMEM218,5_prime_UTR_variant,,ENST00000533273,;TMEM218,5_prime_UTR_variant,,ENST00000527271,;TMEM218,5_prime_UTR_variant,,ENST00000526175,;TMEM218,5_prime_UTR_variant,,ENST00000529609,;TMEM218,5_prime_UTR_variant,,ENST00000279968,;TMEM218,5_prime_UTR_variant,,ENST00000532407,;TMEM218,5_prime_UTR_variant,,ENST00000531909,;TMEM218,5_prime_UTR_variant,,ENST00000529583,;TMEM218,5_prime_UTR_variant,,ENST00000527766,;TMEM218,intron_variant,,ENST00000531262,;TMEM218,non_coding_transcript_exon_variant,,ENST00000527257,;TMEM218,intron_variant,,ENST00000531851,;TMEM218,downstream_gene_variant,,ENST00000532717,;	650	22	9	SUCCESS
HIPK3	10114	.	GRCh37	11	33358704	33358704	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	51	0	ENST00000303296.4:c.1305A>T	p.Lys435Asn	p.K435N	ENST00000303296	NM_005734.4	435	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7884.1	1305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAAGAAAC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000304226	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	deleterious(0)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Lys435Asn,ENST00000525975,;HIPK3,missense_variant,p.Lys435Asn,ENST00000456517,;HIPK3,missense_variant,p.Lys435Asn,ENST00000379016,;HIPK3,missense_variant,p.Lys435Asn,ENST00000303296,;HIPK3,non_coding_transcript_exon_variant,,ENST00000534262,;	1610	51	61	SUCCESS
HIPK3	10114	.	GRCh37	11	33358706	33358706	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	50	0	ENST00000303296.4:c.1307A>C	p.Glu436Ala	p.E436A	ENST00000303296	NM_005734.4	436	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS7884.1	1307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGAAACAG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000304226	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.06)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Glu436Ala,ENST00000525975,;HIPK3,missense_variant,p.Glu436Ala,ENST00000456517,;HIPK3,missense_variant,p.Glu436Ala,ENST00000379016,;HIPK3,missense_variant,p.Glu436Ala,ENST00000303296,;HIPK3,non_coding_transcript_exon_variant,,ENST00000534262,;	1612	50	58	SUCCESS
SCGB2A2	4250	.	GRCh37	11	62040428	62040428	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	15	0	ENST00000227918.2:c.244-1G>C		p.X82_splice	ENST00000227918	NM_002411.2	82		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGCAATT	NONE	.	.	.	.	.	ENSP00000227918	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000227918	Transcript	.	.	ENSG00000110484	7050	.	.	HIGH	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SG2A2_HUMAN	SCGB2A2	HGNC	.	.	UPI0000035993	SNV	SCGB2A2,splice_acceptor_variant,,ENST00000227918,;SCGB2A2,downstream_gene_variant,,ENST00000525380,;	.	15	31	SUCCESS
AHNAK	79026	.	GRCh37	11	62290411	62290411	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	61	0	ENST00000378024.4:c.11478G>T	p.Val3826=	p.V3826=	ENST00000378024	NM_001620.2	3826	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31584.1	11478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTCACATC	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,synonymous_variant,p.%3D,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	11753	61	74	SUCCESS
VPS51	738	.	GRCh37	11	64878964	64878964	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	75	0	ENST00000279281.3:c.2254C>G	p.Leu752Val	p.L752V	ENST00000279281	NM_013265.3	752	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS8093.1	2254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15954:SF4,hmmpanther:PTHR15954	.	.	ENSP00000279281	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279281	Transcript	.	.	ENSG00000149823	1172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	VPS51_HUMAN	VPS51	HGNC	E9PMB6_HUMAN,E9PJ36_HUMAN	.	UPI000006D6D8	SNV	VPS51,missense_variant,p.Leu752Val,ENST00000279281,;VPS51,3_prime_UTR_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000530750,;TM7SF2,upstream_gene_variant,,ENST00000279263,;ZNHIT2,downstream_gene_variant,,ENST00000310597,;TM7SF2,upstream_gene_variant,,ENST00000526085,;TM7SF2,upstream_gene_variant,,ENST00000524986,;TM7SF2,upstream_gene_variant,,ENST00000527968,;TM7SF2,upstream_gene_variant,,ENST00000345348,;TM7SF2,upstream_gene_variant,,ENST00000531321,;TM7SF2,upstream_gene_variant,,ENST00000528802,;TM7SF2,upstream_gene_variant,,ENST00000534371,;VPS51,downstream_gene_variant,,ENST00000530773,;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000526578,;TM7SF2,upstream_gene_variant,,ENST00000525385,;TM7SF2,upstream_gene_variant,,ENST00000529414,;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000528588,;TM7SF2,upstream_gene_variant,,ENST00000526809,;TM7SF2,upstream_gene_variant,,ENST00000540748,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.9,non_coding_transcript_exon_variant,,ENST00000528887,;VPS51,non_coding_transcript_exon_variant,,ENST00000527646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;TM7SF2,upstream_gene_variant,,ENST00000533646,;VPS51,3_prime_UTR_variant,,ENST00000533827,;VPS51,non_coding_transcript_exon_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000529601,;TM7SF2,upstream_gene_variant,,ENST00000533766,;TM7SF2,upstream_gene_variant,,ENST00000528026,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000532328,;TM7SF2,upstream_gene_variant,,ENST00000529292,;TM7SF2,upstream_gene_variant,,ENST00000526048,;TM7SF2,upstream_gene_variant,,ENST00000527851,;VPS51,downstream_gene_variant,,ENST00000534124,;TM7SF2,upstream_gene_variant,,ENST00000524690,;VPS51,downstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000530650,;TM7SF2,upstream_gene_variant,,ENST00000530892,;VPS51,downstream_gene_variant,,ENST00000533656,;VPS51,downstream_gene_variant,,ENST00000533487,;TM7SF2,upstream_gene_variant,,ENST00000534667,;	2346	75	64	SUCCESS
RSF1	51773	.	GRCh37	11	77412597	77412597	+	synonymous_variant	Silent	SNP	G	G	T	rs774642000	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	78	0	ENST00000308488.6:c.1677C>A	p.Thr559=	p.T559=	ENST00000308488		559	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS8253.1	1677	RADIA|VARSCANS	.	GACTCGGTGGA	NONE	byFrequency	.	hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2	.	.	ENSP00000311513	.	6/16	.	.	.	.	.	.	.	.	rs774642000	6/16	oxog	ENST00000308488	Transcript	.	.	ENSG00000048649	18118	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSF1_HUMAN	RSF1	HGNC	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN	.	UPI00001FB001	SNV	RSF1,synonymous_variant,p.%3D,ENST00000308488,;RSF1,synonymous_variant,p.%3D,ENST00000360355,;RSF1,synonymous_variant,p.%3D,ENST00000528095,;RSF1,synonymous_variant,p.%3D,ENST00000526324,;RSF1,synonymous_variant,p.%3D,ENST00000480887,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,upstream_gene_variant,,ENST00000532556,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,upstream_gene_variant,,ENST00000531768,;	1980	78	44	SUCCESS
BTBD11	121551	.	GRCh37	12	107712744	107712744	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	49	0	ENST00000280758.5:c.27G>T	p.Val9=	p.V9=	ENST00000280758	NM_001018072.1	9	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31893.1	27	RADIA|VARSCANS	.	CCCGTGGTGAG	NONE	.	.	.	.	.	ENSP00000280758	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,synonymous_variant,p.%3D,ENST00000490090,;BTBD11,synonymous_variant,p.%3D,ENST00000280758,;BTBD11,synonymous_variant,p.%3D,ENST00000420571,;BTBD11,upstream_gene_variant,,ENST00000415943,;BTBD11,upstream_gene_variant,,ENST00000550706,;	555	49	35	SUCCESS
KCTD10	83892	.	GRCh37	12	109889619	109889619	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	18	0	ENST00000228495.6:c.724-1G>T		p.X242_splice	ENST00000228495	NM_031954.3	242		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9128.1	.	RADIA|VARSCANS	.	TCCACCTGTGT	NONE	.	.	.	.	.	ENSP00000228495	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000228495	Transcript	.	.	ENSG00000110906	23236	.	.	HIGH	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BACD3_HUMAN	KCTD10	HGNC	F5H268_HUMAN,F5GY15_HUMAN,F5GWK6_HUMAN,B3KVY5_HUMAN	.	UPI000004DAE1	SNV	KCTD10,splice_acceptor_variant,,ENST00000542954,;KCTD10,splice_acceptor_variant,,ENST00000228495,;KCTD10,splice_acceptor_variant,,ENST00000535546,;KCTD10,splice_acceptor_variant,,ENST00000540355,;KCTD10,splice_acceptor_variant,,ENST00000540089,;KCTD10,splice_acceptor_variant,,ENST00000540411,;KCTD10,splice_acceptor_variant,,ENST00000424763,;MYO1H,downstream_gene_variant,,ENST00000431443,;KCTD10,downstream_gene_variant,,ENST00000542262,;KCTD10,downstream_gene_variant,,ENST00000542858,;MYO1H,downstream_gene_variant,,ENST00000310903,;RP11-256L11.3,upstream_gene_variant,,ENST00000539987,;KCTD10,splice_acceptor_variant,,ENST00000538161,;KCTD10,splice_acceptor_variant,,ENST00000540402,;KCTD10,splice_acceptor_variant,,ENST00000537165,;KCTD10,splice_acceptor_variant,,ENST00000440541,;KCTD10,splice_acceptor_variant,,ENST00000545759,;MYO1H,intron_variant,,ENST00000543960,;KCTD10,downstream_gene_variant,,ENST00000541077,;MYO1H,downstream_gene_variant,,ENST00000542268,;	.	18	35	SUCCESS
TULP3	7289	.	GRCh37	12	3048495	3048495	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	132	0	ENST00000448120.2:c.1214A>T	p.Gln405Leu	p.Q405L	ENST00000448120	NM_003324.4	405	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS53737.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAGTTTG	NONE	.	.	Prints_domain:PR01573,Superfamily_domains:SSF54518,Gene3D:3c5nA00,Pfam_domain:PF01167,hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF26	.	.	ENSP00000380321	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000397132	Transcript	.	.	ENSG00000078246	12425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	TULP3	HGNC	F8WBZ9_HUMAN,F5H7B9_HUMAN	.	UPI00001FBDC0	SNV	TULP3,missense_variant,p.Gln71Leu,ENST00000538704,;TULP3,missense_variant,p.Gln405Leu,ENST00000397132,;TULP3,missense_variant,p.Gln132Leu,ENST00000544943,;TULP3,missense_variant,p.Gln82Leu,ENST00000541678,;TULP3,missense_variant,p.Gln405Leu,ENST00000448120,;TULP3,3_prime_UTR_variant,,ENST00000538354,;TULP3,3_prime_UTR_variant,,ENST00000545331,;TULP3,downstream_gene_variant,,ENST00000540184,;	1255	132	116	SUCCESS
C12orf40	283461	.	GRCh37	12	40076864	40076864	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs765650911	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	21	0	ENST00000324616.5:c.1138G>T	p.Glu380Ter	p.E380*	ENST00000324616	NM_001031748.2	380	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41770.1	1138	RADIA|VARSCANS	.	AGAGAGAGTAT	NONE	.	.	Pfam_domain:PF15089	.	.	ENSP00000317671	.	8/13	.	.	.	.	.	.	.	.	rs765650911,COSM159472	8/13	PASS	ENST00000324616	Transcript	.	.	ENSG00000180116	26846	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CL040_HUMAN	C12orf40	HGNC	.	.	UPI000069A925	SNV	C12orf40,stop_gained,p.Glu303Ter,ENST00000398716,;C12orf40,stop_gained,p.Glu380Ter,ENST00000405531,;C12orf40,stop_gained,p.Glu380Ter,ENST00000324616,;C12orf40,stop_gained,p.Glu303Ter,ENST00000468200,;	1292	21	24	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48143590	48143590	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	39	0	ENST00000389212.3:c.828G>T	p.Gln276His	p.Q276H	ENST00000389212		276	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS41775.1	828	RADIA|VARSCANS	.	TCCCCCTGGCT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR23113:SF24,hmmpanther:PTHR23113,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000395708	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,missense_variant,p.Gln276His,ENST00000395358,;RAPGEF3,missense_variant,p.Gln234His,ENST00000548919,;RAPGEF3,missense_variant,p.Gln276His,ENST00000389212,;RAPGEF3,missense_variant,p.Gln234His,ENST00000171000,;RAPGEF3,missense_variant,p.Gln234His,ENST00000549151,;RAPGEF3,missense_variant,p.Gln276His,ENST00000449771,;RAPGEF3,missense_variant,p.Gln234His,ENST00000405493,;RAPGEF3,downstream_gene_variant,,ENST00000466322,;SLC48A1,upstream_gene_variant,,ENST00000548498,;RAPGEF3,downstream_gene_variant,,ENST00000495953,;RAPGEF3,downstream_gene_variant,,ENST00000549347,;RAPGEF3,missense_variant,p.Arg91Met,ENST00000495465,;RAPGEF3,3_prime_UTR_variant,,ENST00000547856,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000494764,;SLC48A1,upstream_gene_variant,,ENST00000552003,;RAPGEF3,upstream_gene_variant,,ENST00000395360,;	917	39	24	SUCCESS
LRRC10	376132	.	GRCh37	12	70004150	70004150	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201257055	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	30	0	ENST00000361484.3:c.469C>A	p.Arg157Ser	p.R157S	ENST00000361484	NM_201550.2	157	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31856.1	469	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACGCAGGG	NONE	byCluster	.	Superfamily_domains:SSF52058,SMART_domains:SM00364,Gene3D:3.80.10.10,hmmpanther:PTHR23155,PROSITE_profiles:PS51450,Low_complexity_(Seg):seg	.	.	ENSP00000355166	.	1/1	.	.	.	.	.	.	.	.	rs201257055	1/1	PASS	ENST00000361484	Transcript	.	.	ENSG00000198812	20264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.508)	.	tolerated(0.31)	.	LRC10_HUMAN	LRRC10	HGNC	Q3KP57_HUMAN,Q3B873_HUMAN	.	UPI00001D79A1	SNV	LRRC10,missense_variant,p.Arg157Ser,ENST00000361484,;	793	30	39	SUCCESS
DUSP6	1848	.	GRCh37	12	89745641	89745641	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	39	0	ENST00000279488.7:c.176C>A	p.Pro59Gln	p.P59Q	ENST00000279488	NM_001946.2	59	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS9033.1	176	RADIA|VARSCANS	.	TGCCCGGGATG	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF45,Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,SMART_domains:SM00450,Superfamily_domains:SSF52821	.	.	ENSP00000279488	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000279488	Transcript	.	.	ENSG00000139318	3072	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	DUS6_HUMAN	DUSP6	HGNC	F8VZA4_HUMAN	.	UPI000013ED2F	SNV	DUSP6,missense_variant,p.Pro59Gln,ENST00000279488,;DUSP6,missense_variant,p.Pro59Gln,ENST00000308385,;DUSP6,missense_variant,p.Pro59Gln,ENST00000548755,;DUSP6,upstream_gene_variant,,ENST00000547291,;DUSP6,upstream_gene_variant,,ENST00000547140,;	1408	39	29	SUCCESS
HAL	3034	.	GRCh37	12	96371774	96371774	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs376202377	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	47	0	ENST00000261208.3:c.1602G>T	p.Met534Ile	p.M534I	ENST00000261208	NM_002108.3	534	atG/atT	0	T:0	.	.	.	.	A	M/I	protein_coding	YES	CCDS9058.1	1602	RADIA|VARSCANS	.	CCTCCCATGGA	NONE	byCluster	.	Superfamily_domains:SSF48557,Pfam_domain:PF00221,Gene3D:1.20.200.10,TIGRFAM_domain:TIGR01225,hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7	.	T:0.0001	ENSP00000261208	.	18/21	.	.	.	.	.	.	.	.	rs376202377	18/21	oxog	ENST00000261208	Transcript	.	.	ENSG00000084110	4806	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HUTH_HUMAN	HAL	HGNC	Q2PH61_HUMAN,Q2PH60_HUMAN,Q2PH56_HUMAN	.	UPI000012CE8E	SNV	HAL,missense_variant,p.Met326Ile,ENST00000541929,;HAL,missense_variant,p.Met534Ile,ENST00000261208,;HAL,missense_variant,p.Met66Ile,ENST00000548808,;HAL,missense_variant,p.Met534Ile,ENST00000538703,;HAL,3_prime_UTR_variant,,ENST00000544080,;HAL,3_prime_UTR_variant,,ENST00000546999,;	1971	47	42	SUCCESS
APAF1	317	.	GRCh37	12	99117014	99117014	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	101	0	ENST00000551964.1:c.3128A>G	p.His1043Arg	p.H1043R	ENST00000551964	NM_181861.1	1043	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9069.1	3128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCATCAGG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,Pfam_domain:PF00400,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037646,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000448165	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0.05)	.	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.His1000Arg,ENST00000357310,;APAF1,missense_variant,p.His1032Arg,ENST00000550527,;APAF1,missense_variant,p.His1000Arg,ENST00000339433,;APAF1,missense_variant,p.His1000Arg,ENST00000547045,;APAF1,missense_variant,p.His989Arg,ENST00000359972,;APAF1,missense_variant,p.His1000Arg,ENST00000549007,;APAF1,missense_variant,p.His1043Arg,ENST00000551964,;APAF1,intron_variant,,ENST00000552268,;APAF1,intron_variant,,ENST00000333991,;APAF1,upstream_gene_variant,,ENST00000552929,;ANKS1B,downstream_gene_variant,,ENST00000555119,;	3864	101	111	SUCCESS
NBEA	26960	.	GRCh37	13	35731313	35731313	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776613118	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	103	101	1	ENST00000400445.3:c.2750A>G	p.Tyr917Cys	p.Y917C	ENST00000400445	NM_015678.4	917	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45026.1	2750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTACAATA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	21/58	.	.	.	.	.	.	.	.	rs776613118	21/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Tyr917Cys,ENST00000400445,;NBEA,missense_variant,p.Tyr917Cys,ENST00000540320,;NBEA,missense_variant,p.Tyr917Cys,ENST00000310336,;NBEA,missense_variant,p.Tyr917Cys,ENST00000379939,;	3284	102	110	SUCCESS
RB1	5925	.	GRCh37	13	48947605	48947606	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	265	300	193	0	ENST00000267163.4:c.1196dup	p.Asn399LysfsTer7	p.N399Kfs*7	ENST00000267163	NM_000321.2	398	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS31973.1	1192-1193	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCAGAAAAT	BUFFER|p.Q395*|c.1183C>T|3,BUFFER|p.Q395Q|c.1185A>G|3,BUFFER|p.Q395Q|c.1185A>G|3	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Asn399LysfsTer7,ENST00000267163,;	1330-1331	193	565	SUCCESS
PPP2R5C	5527	.	GRCh37	14	102391540	102391540	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	49	0	ENST00000334743.5:c.1506C>A	p.Asp502Glu	p.D502E	ENST00000334743	NM_002719.3	502	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS53912.1	1599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACCCCCA	NONE	.	.	hmmpanther:PTHR10257	.	.	ENSP00000412324	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000422945	Transcript	.	.	ENSG00000078304	9311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious_low_confidence(0.01)	.	2A5G_HUMAN	PPP2R5C	HGNC	H0YJ75_HUMAN	.	UPI0001A7AE62	SNV	PPP2R5C,missense_variant,p.Asp463Glu,ENST00000350249,;PPP2R5C,missense_variant,p.Asp533Glu,ENST00000422945,;PPP2R5C,missense_variant,p.Asp518Glu,ENST00000328724,;PPP2R5C,missense_variant,p.Asp502Glu,ENST00000334743,;PPP2R5C,missense_variant,p.Asp531Glu,ENST00000557268,;PPP2R5C,downstream_gene_variant,,ENST00000555237,;PPP2R5C,3_prime_UTR_variant,,ENST00000557071,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000554147,;	1695	49	66	SUCCESS
IGHV3-11	28450	.	GRCh37	14	106573427	106573427	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs547199875	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	101	0	ENST00000390601.2:c.157A>G	p.Met53Val	p.M53V	ENST00000390601		53	Atg/Gtg	0	.	C:0	.	C:0.0014	.	C	M/V	IG_V_gene	YES	.	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATGTAGT	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	C:0	.	ENSP00000375010	C:0	2/2	.	.	.	.	.	.	.	.	rs547199875	2/2	PASS	ENST00000390601	Transcript	.	C:0.0002	ENSG00000211941	5580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	C:0	deleterious_low_confidence(0.01)	.	.	IGHV3-11	HGNC	.	.	UPI000011AADC	SNV	IGHV3-11,missense_variant,p.Met53Val,ENST00000390601,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,;	277	101	79	SUCCESS
KHNYN	23351	.	GRCh37	14	24901958	24901958	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	28	0	ENST00000251343.5:c.1380G>T	p.Arg460=	p.R460=	ENST00000251343		460	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32058.1	1380	RADIA|VARSCANS	.	AGCCGGGGCAT	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28,Pfam_domain:PF11977	.	.	ENSP00000251343	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000251343	Transcript	.	.	ENSG00000100441	20166	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KHNYN_HUMAN	KHNYN	HGNC	G3V3G3_HUMAN,G3V331_HUMAN	.	UPI000000CC1F	SNV	KHNYN,synonymous_variant,p.%3D,ENST00000251343,;KHNYN,synonymous_variant,p.%3D,ENST00000556842,;KHNYN,synonymous_variant,p.%3D,ENST00000553935,;CBLN3,upstream_gene_variant,,ENST00000555436,;CBLN3,upstream_gene_variant,,ENST00000267406,;KHNYN,upstream_gene_variant,,ENST00000554268,;KHNYN,downstream_gene_variant,,ENST00000556510,;KHNYN,upstream_gene_variant,,ENST00000556255,;	1519	28	35	SUCCESS
SNX6	58533	.	GRCh37	14	35072633	35072633	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	64	158	1	ENST00000362031.4:c.473T>G	p.Val158Gly	p.V158G	ENST00000362031	NM_152233.2	158	gTg/gGg	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS41942.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACACTTCA	NONE	.	.	PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF120,Pfam_domain:PF00787,Gene3D:3.30.1520.10,PIRSF_domain:PIRSF036924,Superfamily_domains:SSF64268	.	.	ENSP00000355217	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000362031	Transcript	.	.	ENSG00000129515	14970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.02)	.	.	SNX6	HGNC	Q5QTQ6_HUMAN	.	UPI00006AB832	SNV	SNX6,missense_variant,p.Val158Gly,ENST00000362031,;SNX6,missense_variant,p.Val30Gly,ENST00000396534,;SNX6,missense_variant,p.Val121Gly,ENST00000557265,;SNX6,missense_variant,p.Val34Gly,ENST00000355110,;SNX6,missense_variant,p.Val30Gly,ENST00000396526,;SNX6,downstream_gene_variant,,ENST00000555648,;SNX6,3_prime_UTR_variant,,ENST00000556712,;SNX6,3_prime_UTR_variant,,ENST00000556162,;SNX6,3_prime_UTR_variant,,ENST00000557341,;SNX6,3_prime_UTR_variant,,ENST00000555416,;SNX6,downstream_gene_variant,,ENST00000556303,;	504	159	151	SUCCESS
ESR2	2100	.	GRCh37	14	64749351	64749351	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	24	0	ENST00000341099.4:c.353C>A	p.Pro118His	p.P118H	ENST00000341099	NM_001437.2	118	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS9762.1	353	RADIA|VARSCANS	.	TTACAGGTAAG	NONE	.	.	hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF1,Pfam_domain:PF12497,PIRSF_domain:PIRSF500102,PIRSF_domain:PIRSF002527	.	.	ENSP00000343925	.	2/9	.	.	.	.	.	.	.	.	COSM1205682,COSM1205683	2/9	PASS	ENST00000341099	Transcript	.	.	ENSG00000140009	3468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.072)	.	tolerated(0.07)	1,1	ESR2_HUMAN	ESR2	HGNC	Q7LCB3_HUMAN,G3V5S2_HUMAN	.	UPI0000000964	SNV	ESR2,missense_variant,p.Pro118His,ENST00000357782,;ESR2,missense_variant,p.Pro118His,ENST00000553796,;ESR2,missense_variant,p.Pro118His,ENST00000353772,;ESR2,missense_variant,p.Pro118His,ENST00000267525,;ESR2,missense_variant,p.Pro118His,ENST00000341099,;ESR2,missense_variant,p.Pro118His,ENST00000555278,;ESR2,missense_variant,p.Pro118His,ENST00000556275,;ESR2,missense_variant,p.Pro118His,ENST00000557772,;ESR2,missense_variant,p.Pro118His,ENST00000554572,;ESR2,missense_variant,p.Pro118His,ENST00000542956,;ESR2,missense_variant,p.Pro118His,ENST00000358599,;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,;ESR2,missense_variant,p.Pro118His,ENST00000344288,;	771	24	25	SUCCESS
DISP2	85455	.	GRCh37	15	40659780	40659780	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	59	0	ENST00000267889.3:c.1467G>T	p.Thr489=	p.T489=	ENST00000267889	NM_033510.1	489	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10056.1	1467	RADIA|VARSCANS	.	GACACGGTGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796,Gene3D:2j8sB01	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	COSM1323229	8/8	oxog	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,synonymous_variant,p.%3D,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	1554	59	35	SUCCESS
CHST14	113189	.	GRCh37	15	40764449	40764449	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	46	0	ENST00000306243.5:c.1037C>A	p.Ala346Asp	p.A346D	ENST00000306243	NM_130468.3	346	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS10059.1	1037	RADIA|VARSCANS	.	CCGGGCCCTGC	NONE	.	.	hmmpanther:PTHR12137:SF34,hmmpanther:PTHR12137,Pfam_domain:PF03567	.	.	ENSP00000307297	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306243	Transcript	1	.	ENSG00000169105	24464	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.63)	.	CHSTE_HUMAN	CHST14	HGNC	.	.	UPI000004616D	SNV	CHST14,missense_variant,p.Ala346Asp,ENST00000306243,;CHST14,missense_variant,p.Ala321Asp,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000416165,;BAHD1,downstream_gene_variant,,ENST00000561234,;	1290	46	28	SUCCESS
MAP1A	4130	.	GRCh37	15	43816465	43816465	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	34	0	ENST00000300231.5:c.2794T>C	p.Leu932=	p.L932=	ENST00000300231		932	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42031.1	2794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTTGTCT	NONE	.	.	hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	.	.	ENSP00000300231	.	4/6	.	.	.	.	.	.	.	.	COSM4150949	4/6	PASS	ENST00000300231	Transcript	.	.	ENSG00000166963	6835	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MAP1A_HUMAN	MAP1A	HGNC	.	.	UPI000013E63C	SNV	MAP1A,synonymous_variant,p.%3D,ENST00000399453,;MAP1A,synonymous_variant,p.%3D,ENST00000300231,;MAP1A,synonymous_variant,p.%3D,ENST00000382031,;	3244	34	25	SUCCESS
NOX5	79400	.	GRCh37	15	69347714	69347714	+	synonymous_variant	Silent	SNP	G	G	T	rs774389114	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	31	0	ENST00000388866.3:c.2040G>T	p.Leu680=	p.L680=	ENST00000388866	NM_024505.3	680	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32276.2	2040	RADIA|VARSCANS	.	GCACTGGGCAA	NONE	.	.	hmmpanther:PTHR11972:SF36,hmmpanther:PTHR11972,Pfam_domain:PF08030,Superfamily_domains:SSF52343	.	.	ENSP00000373518	.	15/16	.	.	.	.	.	.	.	.	rs774389114	15/16	oxog	ENST00000388866	Transcript	.	.	ENSG00000255346	14874	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOX5_HUMAN	NOX5	HGNC	.	.	UPI000006DDBD	SNV	NOX5,synonymous_variant,p.%3D,ENST00000530406,;NOX5,synonymous_variant,p.%3D,ENST00000388866,;NOX5,synonymous_variant,p.%3D,ENST00000448182,;NOX5,synonymous_variant,p.%3D,ENST00000455873,;NOX5,synonymous_variant,p.%3D,ENST00000260364,;NOX5,3_prime_UTR_variant,,ENST00000525143,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;NOX5,non_coding_transcript_exon_variant,,ENST00000529367,;	2081	31	32	SUCCESS
IL16	3603	.	GRCh37	15	81589305	81589305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	57	0	ENST00000302987.4:c.1939G>A	p.Glu647Lys	p.E647K	ENST00000302987		647	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS42069.1	1939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGAAGAC	NONE	.	.	hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2	.	.	ENSP00000302935	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000302987	Transcript	.	.	ENSG00000172349	5980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.29)	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,missense_variant,p.Glu647Lys,ENST00000394660,;IL16,missense_variant,p.Glu601Lys,ENST00000559388,;IL16,missense_variant,p.Glu647Lys,ENST00000302987,;IL16,5_prime_UTR_variant,,ENST00000394652,;IL16,upstream_gene_variant,,ENST00000558332,;IL16,downstream_gene_variant,,ENST00000559383,;IL16,upstream_gene_variant,,ENST00000560230,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,upstream_gene_variant,,ENST00000558857,;IL16,downstream_gene_variant,,ENST00000560241,;	1939	57	44	SUCCESS
STARD5	80765	.	GRCh37	15	81615246	81615246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	39	63	0	ENST00000302824.6:c.143G>T	p.Gly48Val	p.G48V	ENST00000302824	NM_181900.2	48	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10318.1	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCCTGGA	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF44,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000304032	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000302824	Transcript	.	.	ENSG00000172345	18065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STAR5_HUMAN	STARD5	HGNC	.	.	UPI0000136136	SNV	STARD5,missense_variant,p.Gly48Val,ENST00000302824,;RP11-761I4.3,upstream_gene_variant,,ENST00000559781,;RP11-761I4.3,upstream_gene_variant,,ENST00000560973,;STARD5,non_coding_transcript_exon_variant,,ENST00000559913,;STARD5,non_coding_transcript_exon_variant,,ENST00000560723,;STARD5,intron_variant,,ENST00000560156,;STARD5,intron_variant,,ENST00000325346,;	169	63	67	SUCCESS
NTRK3	4916	.	GRCh37	15	88522526	88522526	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	28	0	ENST00000360948.2:c.1586-38542C>A		p.*529*	ENST00000360948	NM_001012338.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32322.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGGCCCA	NONE	.	.	.	.	.	ENSP00000354207	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODIFIER	13/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,3_prime_UTR_variant,,ENST00000317501,;NTRK3,3_prime_UTR_variant,,ENST00000540489,;NTRK3,intron_variant,,ENST00000558676,;NTRK3,intron_variant,,ENST00000557856,;NTRK3,intron_variant,,ENST00000394480,;NTRK3,intron_variant,,ENST00000542733,;NTRK3,intron_variant,,ENST00000357724,;NTRK3,intron_variant,,ENST00000355254,;NTRK3,intron_variant,,ENST00000360948,;NTRK3,non_coding_transcript_exon_variant,,ENST00000558306,;NTRK3,downstream_gene_variant,,ENST00000537300,;NTRK3,upstream_gene_variant,,ENST00000560201,;	.	28	25	SUCCESS
DET1	55070	.	GRCh37	15	89074867	89074867	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367738496	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	23	56	0	ENST00000268148.8:c.70C>T	p.Arg24Cys	p.R24C	ENST00000268148	NM_001144074.1	24	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS45343.1	103	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGTTCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13374	.	A:0.0001	ENSP00000456340	.	3/6	.	.	.	.	.	.	.	.	rs367738496	3/6	PASS	ENST00000564406	Transcript	.	.	ENSG00000140543	25477	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.394)	.	tolerated(0.08)	.	DET1_HUMAN	DET1	HGNC	.	.	UPI00001A8183	SNV	DET1,missense_variant,p.Arg35Cys,ENST00000564406,;DET1,missense_variant,p.Arg35Cys,ENST00000444300,;DET1,missense_variant,p.Arg24Cys,ENST00000268148,;DET1,missense_variant,p.Arg24Cys,ENST00000558413,;DET1,downstream_gene_variant,,ENST00000559656,;DET1,missense_variant,p.Arg24Cys,ENST00000557842,;DET1,missense_variant,p.Arg24Cys,ENST00000557837,;	264	56	37	SUCCESS
MYH11	4629	.	GRCh37	16	15811118	15811118	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	44	0	ENST00000300036.5:c.5383A>T	p.Lys1795Ter	p.K1795*	ENST00000300036	NM_002474.2	1795	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45423.1	5404	RADIA|VARSCANS	.	CTCCTTGTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140	.	.	ENSP00000379616	.	39/42	.	.	.	.	.	.	.	.	.	39/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,stop_gained,p.Lys1795Ter,ENST00000576790,;MYH11,stop_gained,p.Lys1795Ter,ENST00000300036,;MYH11,stop_gained,p.Lys1802Ter,ENST00000396324,;MYH11,stop_gained,p.Lys1802Ter,ENST00000452625,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,intron_variant,,ENST00000396355,;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000396354,;NDE1,upstream_gene_variant,,ENST00000571896,;NDE1,upstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000576164,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;	5492	44	33	SUCCESS
RAB11FIP3	9727	.	GRCh37	16	524995	524995	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	16	0	ENST00000262305.4:c.903+3606G>A		p.*301*	ENST00000262305	NM_014700.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32351.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGGACGG	NONE	.	.	.	.	.	ENSP00000262305	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262305	Transcript	.	.	ENSG00000090565	17224	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFIP3_HUMAN	RAB11FIP3	HGNC	F6X994_HUMAN	.	UPI0000129C9C	SNV	RAB11FIP3,5_prime_UTR_variant,,ENST00000450428,;RAB11FIP3,5_prime_UTR_variant,,ENST00000452814,;RAB11FIP3,5_prime_UTR_variant,,ENST00000449879,;RAB11FIP3,intron_variant,,ENST00000434585,;RAB11FIP3,intron_variant,,ENST00000457159,;RAB11FIP3,intron_variant,,ENST00000262305,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000483002,;	.	16	14	SUCCESS
HYDIN	54768	.	GRCh37	16	70841965	70841965	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	48	0	ENST00000393567.2:c.14884A>G	p.Thr4962Ala	p.T4962A	ENST00000393567	NM_001270974.1	4962	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59269.1	14884	RADIA|SOMATICSNIPER|VARSCANS	.	GTCGGTCTGAA	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	86/86	.	.	.	.	.	.	.	.	.	86/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.801)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Thr4962Ala,ENST00000393567,;HYDIN,splice_region_variant,,ENST00000378856,;	15035	48	22	SUCCESS
WDR90	197335	.	GRCh37	16	712780	712780	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs576866547	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	38	0	ENST00000293879.4:c.4247C>T	p.Thr1416Met	p.T1416M	ENST00000293879		1416	aCg/aTg	0	.	T:0.0015	.	T:0	.	T	T/M	protein_coding	YES	CCDS42092.1	4247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACGCTGT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF10,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	T:0	.	ENSP00000293879	T:0	34/41	.	.	.	.	.	.	.	.	rs576866547	34/41	PASS	ENST00000293879	Transcript	.	T:0.0004	ENSG00000161996	26960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	T:0	deleterious(0.02)	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,missense_variant,p.Thr1418Met,ENST00000549091,;WDR90,missense_variant,p.Thr1416Met,ENST00000293879,;WDR90,upstream_gene_variant,,ENST00000547944,;WDR90,upstream_gene_variant,,ENST00000551100,;WDR90,downstream_gene_variant,,ENST00000550739,;WDR90,upstream_gene_variant,,ENST00000546896,;WDR90,upstream_gene_variant,,ENST00000315764,;WDR90,non_coding_transcript_exon_variant,,ENST00000548603,;WDR90,upstream_gene_variant,,ENST00000547543,;WDR90,downstream_gene_variant,,ENST00000548844,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000552683,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,intron_variant,,ENST00000552728,;WDR90,upstream_gene_variant,,ENST00000548448,;WDR90,downstream_gene_variant,,ENST00000550902,;WDR90,downstream_gene_variant,,ENST00000546923,;WDR90,downstream_gene_variant,,ENST00000552943,;WDR90,upstream_gene_variant,,ENST00000553080,;	4247	38	29	SUCCESS
ZNF821	55565	.	GRCh37	16	71894144	71894144	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	40	0	ENST00000425432.1:c.1016G>T	p.Arg339Leu	p.R339L	ENST00000425432	NM_001201552.1	339	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS56006.1	1016	RADIA|MUTECT|VARSCANS	.	CCTGCCGCTTT	NONE	.	.	hmmpanther:PTHR24404:SF1,hmmpanther:PTHR24404	.	.	ENSP00000398089	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000425432	Transcript	.	.	ENSG00000102984	28043	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN821_HUMAN	ZNF821	HGNC	H3BS68_HUMAN	.	UPI0000EE78C4	SNV	ZNF821,missense_variant,p.Arg339Leu,ENST00000425432,;ZNF821,missense_variant,p.Arg297Leu,ENST00000313565,;ZNF821,missense_variant,p.Arg339Leu,ENST00000568666,;ZNF821,missense_variant,p.Arg339Leu,ENST00000565601,;ZNF821,missense_variant,p.Arg297Leu,ENST00000446827,;ZNF821,3_prime_UTR_variant,,ENST00000564134,;IST1,intron_variant,,ENST00000568581,;ZNF821,downstream_gene_variant,,ENST00000568322,;ZNF821,downstream_gene_variant,,ENST00000562797,;ZNF821,downstream_gene_variant,,ENST00000565516,;ATXN1L,downstream_gene_variant,,ENST00000427980,;ZNF821,downstream_gene_variant,,ENST00000565843,;ATXN1L,intron_variant,,ENST00000569119,;ZNF821,downstream_gene_variant,,ENST00000564943,;ZNF821,3_prime_UTR_variant,,ENST00000568961,;ZNF821,3_prime_UTR_variant,,ENST00000562808,;ZNF821,3_prime_UTR_variant,,ENST00000566987,;ZNF821,downstream_gene_variant,,ENST00000569186,;ZNF821,downstream_gene_variant,,ENST00000563878,;ZNF821,downstream_gene_variant,,ENST00000562985,;ZNF821,downstream_gene_variant,,ENST00000563827,;	1396	40	32	SUCCESS
DHODH	1723	.	GRCh37	16	72045982	72045982	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs955893236	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	32	0	ENST00000219240.4:c.55G>A	p.Gly19Arg	p.G19R	ENST00000219240	NM_001361.4	19	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS42192.1	55	RADIA|VARSCANS	.	TGGGGGGAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11938	.	.	ENSP00000219240	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000219240	Transcript	.	.	ENSG00000102967	2867	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	PYRD_HUMAN	DHODH	HGNC	J3QRQ3_HUMAN	.	UPI00001FF5FB	SNV	DHODH,missense_variant,p.Gly19Arg,ENST00000219240,;DHODH,missense_variant,p.Gly19Arg,ENST00000572887,;DHODH,missense_variant,p.Gly18Arg,ENST00000574309,;DHODH,5_prime_UTR_variant,,ENST00000576145,;DHODH,upstream_gene_variant,,ENST00000573922,;DHODH,missense_variant,p.Gly15Arg,ENST00000571288,;DHODH,upstream_gene_variant,,ENST00000571392,;DHODH,upstream_gene_variant,,ENST00000573843,;DHODH,upstream_gene_variant,,ENST00000572003,;	76	32	22	SUCCESS
DHX38	9785	.	GRCh37	16	72142233	72142233	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	59	0	ENST00000268482.3:c.3072C>A	p.Ser1024=	p.S1024=	ENST00000268482	NM_014003.3	1024	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10907.1	3072	RADIA|VARSCANS	.	TACTCCACCAT	NONE	.	.	hmmpanther:PTHR18934:SF91,hmmpanther:PTHR18934,Superfamily_domains:SSF52540	.	.	ENSP00000268482	.	22/27	.	.	.	.	.	.	.	.	COSM3511978	22/27	PASS	ENST00000268482	Transcript	.	.	ENSG00000140829	17211	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PRP16_HUMAN	DHX38	HGNC	H3BV01_HUMAN,H3BQT9_HUMAN,B4DN69_HUMAN,B4DM30_HUMAN	.	UPI000002FBFE	SNV	DHX38,synonymous_variant,p.%3D,ENST00000536867,;DHX38,synonymous_variant,p.%3D,ENST00000268482,;DHX38,synonymous_variant,p.%3D,ENST00000563819,;DHX38,intron_variant,,ENST00000562774,;DHX38,upstream_gene_variant,,ENST00000567142,;PMFBP1,downstream_gene_variant,,ENST00000537792,;DHX38,3_prime_UTR_variant,,ENST00000579387,;DHX38,non_coding_transcript_exon_variant,,ENST00000564622,;DHX38,upstream_gene_variant,,ENST00000569952,;DHX38,downstream_gene_variant,,ENST00000566329,;DHX38,downstream_gene_variant,,ENST00000569935,;DHX38,upstream_gene_variant,,ENST00000567552,;	3581	59	32	SUCCESS
MVD	4597	.	GRCh37	16	88718946	88718946	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	48	1	ENST00000301012.3:c.1190A>G	p.Lys397Arg	p.K397R	ENST00000301012	NM_002461.1	397	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10968.1	1190	MUTECT|VARSCANS	.	CTGGCTTCGGC	NONE	.	.	hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2	.	.	ENSP00000301012	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301012	Transcript	.	.	ENSG00000167508	7529	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.077)	.	tolerated(0.15)	.	MVD1_HUMAN	MVD	HGNC	.	.	UPI000012A0C6	SNV	MVD,missense_variant,p.Lys397Arg,ENST00000301012,;CYBA,upstream_gene_variant,,ENST00000567174,;CYBA,upstream_gene_variant,,ENST00000261623,;MVD,downstream_gene_variant,,ENST00000569177,;CYBA,upstream_gene_variant,,ENST00000568278,;CYBA,upstream_gene_variant,,ENST00000566229,;CYBA,upstream_gene_variant,,ENST00000569359,;MVD,downstream_gene_variant,,ENST00000565720,;MVD,downstream_gene_variant,,ENST00000568709,;CYBA,upstream_gene_variant,,ENST00000561972,;MVD,non_coding_transcript_exon_variant,,ENST00000561895,;MVD,non_coding_transcript_exon_variant,,ENST00000565149,;MVD,non_coding_transcript_exon_variant,,ENST00000562981,;CYBA,upstream_gene_variant,,ENST00000563526,;MVD,downstream_gene_variant,,ENST00000563785,;MVD,downstream_gene_variant,,ENST00000563170,;MVD,downstream_gene_variant,,ENST00000568133,;MVD,downstream_gene_variant,,ENST00000562651,;MVD,downstream_gene_variant,,ENST00000566636,;CYBA,upstream_gene_variant,,ENST00000562209,;MVD,downstream_gene_variant,,ENST00000567064,;CYBA,upstream_gene_variant,,ENST00000566534,;	1220	49	13	SUCCESS
ARHGAP44	9912	.	GRCh37	17	12819237	12819237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	60	0	ENST00000379672.5:c.296G>T	p.Gly99Val	p.G99V	ENST00000379672	NM_014859.4	99	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS45616.1	296	RADIA|VARSCANS	.	CTGTGGAGAGA	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000368994	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000379672	Transcript	.	.	ENSG00000006740	29096	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	RHG44_HUMAN	ARHGAP44	HGNC	J3QQU7_HUMAN	.	UPI0000252116	SNV	ARHGAP44,missense_variant,p.Gly99Val,ENST00000340825,;ARHGAP44,missense_variant,p.Gly99Val,ENST00000379672,;ARHGAP44,missense_variant,p.Gly99Val,ENST00000262444,;MIR1269B,downstream_gene_variant,,ENST00000580405,;ARHGAP44,missense_variant,p.Gly99Val,ENST00000544416,;ARHGAP44,missense_variant,p.Gly99Val,ENST00000580768,;ARHGAP44,non_coding_transcript_exon_variant,,ENST00000578442,;	596	60	33	SUCCESS
ADORA2B	136	.	GRCh37	17	15878047	15878047	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	79	0	ENST00000304222.2:c.390G>T	p.Trp130Cys	p.W130C	ENST00000304222	NM_000676.2	130	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS11173.1	390	RADIA|VARSCANS	.	CTCTGGGTCCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF18,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000304501	.	2/2	.	.	.	.	.	.	.	.	.	2/2	oxog	ENST00000304222	Transcript	.	.	ENSG00000170425	264	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	AA2BR_HUMAN	ADORA2B	HGNC	Q2L7J7_HUMAN	.	UPI00000503E3	SNV	ADORA2B,missense_variant,p.Trp130Cys,ENST00000304222,;ZSWIM7,downstream_gene_variant,,ENST00000486655,;ZSWIM7,downstream_gene_variant,,ENST00000399277,;ZSWIM7,downstream_gene_variant,,ENST00000472495,;ZSWIM7,downstream_gene_variant,,ENST00000475498,;ZSWIM7,downstream_gene_variant,,ENST00000497434,;ZSWIM7,downstream_gene_variant,,ENST00000497719,;ZSWIM7,downstream_gene_variant,,ENST00000495825,;ZSWIM7,downstream_gene_variant,,ENST00000399280,;ADORA2B,non_coding_transcript_exon_variant,,ENST00000582124,;ZSWIM7,downstream_gene_variant,,ENST00000491631,;ZSWIM7,downstream_gene_variant,,ENST00000585208,;ZSWIM7,downstream_gene_variant,,ENST00000579955,;ZSWIM7,downstream_gene_variant,,ENST00000476496,;ZSWIM7,downstream_gene_variant,,ENST00000486706,;ZSWIM7,downstream_gene_variant,,ENST00000460252,;ZSWIM7,downstream_gene_variant,,ENST00000474716,;ZSWIM7,downstream_gene_variant,,ENST00000490395,;ZSWIM7,downstream_gene_variant,,ENST00000460315,;ZSWIM7,downstream_gene_variant,,ENST00000584519,;	722	79	38	SUCCESS
SREBF1	6720	.	GRCh37	17	17716721	17716721	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748730943	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	21	0	ENST00000261646.5:c.3175C>T	p.Arg1059Cys	p.R1059C	ENST00000261646	NM_004176.4	1059	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32583.1	3265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGGTCGA	NONE	byFrequency	.	hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	19/20	.	.	.	.	.	.	.	.	rs748730943	19/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,missense_variant,p.Arg805Cys,ENST00000395757,;SREBF1,missense_variant,p.Arg1089Cys,ENST00000355815,;SREBF1,missense_variant,p.Arg1059Cys,ENST00000261646,;SREBF1,missense_variant,p.Arg129Cys,ENST00000478616,;SREBF1,intron_variant,,ENST00000338854,;SREBF1,intron_variant,,ENST00000486311,;RAI1,downstream_gene_variant,,ENST00000261641,;RAI1,downstream_gene_variant,,ENST00000353383,;SREBF1,downstream_gene_variant,,ENST00000435530,;MIR33B,downstream_gene_variant,,ENST00000385104,;RAI1,downstream_gene_variant,,ENST00000582514,;SREBF1,missense_variant,p.Arg13Cys,ENST00000578469,;SREBF1,missense_variant,p.Arg92Cys,ENST00000485080,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,downstream_gene_variant,,ENST00000490796,;SREBF1,downstream_gene_variant,,ENST00000581707,;SREBF1,downstream_gene_variant,,ENST00000447641,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000470247,;	3435	21	18	SUCCESS
MYO18A	399687	.	GRCh37	17	27442787	27442787	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	49	0	ENST00000527372.1:c.2122G>A	p.Glu708Lys	p.E708K	ENST00000527372	NM_078471.3	708	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS45642.1	2122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCCTCCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,PROSITE_profiles:PS51456	.	.	ENSP00000437073	.	12/42	.	.	.	.	.	.	.	.	.	12/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Glu708Lys,ENST00000354329,;MYO18A,missense_variant,p.Glu708Lys,ENST00000527372,;MYO18A,missense_variant,p.Glu708Lys,ENST00000533112,;MYO18A,missense_variant,p.Glu708Lys,ENST00000531253,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,3_prime_UTR_variant,,ENST00000588791,;MYO18A,upstream_gene_variant,,ENST00000533399,;	2303	49	32	SUCCESS
MIEN1	84299	.	GRCh37	17	37886014	37886014	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	32	0	ENST00000394231.3:c.188G>A	p.Gly63Asp	p.G63D	ENST00000394231		63	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11344.1	188	MUTECT|MUSE	.	AGGCACCTGGT	NONE	.	.	hmmpanther:PTHR15124,hmmpanther:PTHR15124:SF15,Gene3D:3.40.30.10,Pfam_domain:PF10262,TIGRFAM_domain:TIGR02174,Superfamily_domains:SSF52833	.	.	ENSP00000377778	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000394231	Transcript	.	.	ENSG00000141741	28230	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	tolerated(0.05)	.	MIEN1_HUMAN	MIEN1	HGNC	.	.	UPI0000043728	SNV	MIEN1,missense_variant,p.Gly63Asp,ENST00000577810,;MIEN1,missense_variant,p.Gly63Asp,ENST00000394231,;ERBB2,downstream_gene_variant,,ENST00000580074,;ERBB2,downstream_gene_variant,,ENST00000584450,;ERBB2,downstream_gene_variant,,ENST00000541774,;ERBB2,downstream_gene_variant,,ENST00000445658,;ERBB2,downstream_gene_variant,,ENST00000269571,;ERBB2,downstream_gene_variant,,ENST00000406381,;ERBB2,downstream_gene_variant,,ENST00000540147,;ERBB2,downstream_gene_variant,,ENST00000584601,;MIR4728,downstream_gene_variant,,ENST00000580969,;MIEN1,splice_region_variant,,ENST00000474210,;ERBB2,intron_variant,,ENST00000584888,;MIEN1,splice_region_variant,,ENST00000469568,;MIEN1,splice_region_variant,,ENST00000498164,;MIEN1,non_coding_transcript_exon_variant,,ENST00000582963,;ERBB2,downstream_gene_variant,,ENST00000583038,;ERBB2,downstream_gene_variant,,ENST00000578373,;	480	32	29	SUCCESS
KRT32	3882	.	GRCh37	17	39623271	39623271	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs553067866	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	45	0	ENST00000225899.3:c.307C>A	p.Leu103Ile	p.L103I	ENST00000225899	NM_002278.3	103	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS11393.1	307	RADIA|VARSCANS	.	GTTAAGGAACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000225899	.	1/7	.	.	.	.	.	.	.	.	rs553067866	1/7	PASS	ENST00000225899	Transcript	.	.	ENSG00000108759	6449	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	K1H2_HUMAN	KRT32	HGNC	.	.	UPI000013C883	SNV	KRT32,missense_variant,p.Leu103Ile,ENST00000225899,;RNU2-32P,upstream_gene_variant,,ENST00000411193,;	411	45	37	SUCCESS
KANSL1	284058	.	GRCh37	17	44249095	44249095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	32	0	ENST00000574590.1:c.415A>G	p.Arg139Gly	p.R139G	ENST00000574590	NM_001193465.1	139	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS11503.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTAAGAT	NONE	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443	.	.	ENSP00000262419	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	deleterious(0)	.	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	SNV	KANSL1,missense_variant,p.Arg139Gly,ENST00000574655,;KANSL1,missense_variant,p.Arg139Gly,ENST00000575318,;KANSL1,missense_variant,p.Arg139Gly,ENST00000574590,;KANSL1,missense_variant,p.Arg139Gly,ENST00000432791,;KANSL1,missense_variant,p.Arg139Gly,ENST00000262419,;KANSL1,missense_variant,p.Arg139Gly,ENST00000572904,;KANSL1,5_prime_UTR_variant,,ENST00000393476,;KANSL1,downstream_gene_variant,,ENST00000576739,;KANSL1,downstream_gene_variant,,ENST00000571698,;KANSL1,upstream_gene_variant,,ENST00000576248,;KANSL1,upstream_gene_variant,,ENST00000577114,;	886	32	37	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	35	75	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	75	46	SUCCESS
AZI1	0	.	GRCh37	17	79172048	79172048	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149450146	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	37	0	ENST00000269392.4:c.1337C>A	p.Pro446Gln	p.P446Q	ENST00000269392	NM_014984.2	446	cCg/cAg	0	A:0.0007	.	.	.	.	T	P/Q	protein_coding	YES	CCDS45808.1	1337	RADIA|VARSCANS	.	TGCTCGGGGCC	NONE	byCluster	.	hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1	.	A:0.0001	ENSP00000393583	.	12/26	.	.	.	.	.	.	.	.	rs149450146	12/26	oxog	ENST00000450824	Transcript	.	.	ENSG00000141577	29511	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.681)	.	tolerated(0.07)	.	AZI1_HUMAN	AZI1	HGNC	.	.	UPI00002017B6	SNV	AZI1,missense_variant,p.Pro446Gln,ENST00000269392,;AZI1,missense_variant,p.Pro446Gln,ENST00000450824,;AZI1,missense_variant,p.Pro446Gln,ENST00000374782,;AZI1,missense_variant,p.Pro446Gln,ENST00000575907,;AZI1,upstream_gene_variant,,ENST00000573053,;AZI1,upstream_gene_variant,,ENST00000570817,;RP11-455O6.2,intron_variant,,ENST00000571085,;AZI1,downstream_gene_variant,,ENST00000570482,;	1516	37	41	SUCCESS
LRRC45	201255	.	GRCh37	17	79984801	79984801	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202017922	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	22	0	ENST00000306688.3:c.688C>T	p.Arg230Trp	p.R230W	ENST00000306688	NM_144999.2	230	Cgg/Tgg	0	G:0	T:0	.	T:0.0043	.	T	R/W	protein_coding	YES	CCDS11797.1	688	SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCGGCTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF3,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	T:0	G:0.0001	ENSP00000306760	T:0	6/17	.	.	.	.	.	.	.	.	rs202017922	6/17	PASS	ENST00000306688	Transcript	.	T:0.0006	ENSG00000169683	28302	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.027)	T:0	deleterious(0)	.	LRC45_HUMAN	LRRC45	HGNC	.	.	UPI000006EF33	SNV	LRRC45,missense_variant,p.Arg230Trp,ENST00000306688,;STRA13,upstream_gene_variant,,ENST00000392359,;RAC3,upstream_gene_variant,,ENST00000306897,;STRA13,upstream_gene_variant,,ENST00000580435,;STRA13,upstream_gene_variant,,ENST00000579520,;LRRC45,downstream_gene_variant,,ENST00000577638,;STRA13,upstream_gene_variant,,ENST00000306704,;STRA13,upstream_gene_variant,,ENST00000584347,;STRA13,upstream_gene_variant,,ENST00000584600,;STRA13,upstream_gene_variant,,ENST00000583767,;STRA13,upstream_gene_variant,,ENST00000584514,;LRRC45,downstream_gene_variant,,ENST00000583383,;STRA13,upstream_gene_variant,,ENST00000580090,;STRA13,upstream_gene_variant,,ENST00000577379,;LRRC45,non_coding_transcript_exon_variant,,ENST00000583302,;LRRC45,upstream_gene_variant,,ENST00000582083,;STRA13,upstream_gene_variant,,ENST00000585091,;LRRC45,upstream_gene_variant,,ENST00000581227,;	1030	22	29	SUCCESS
ABR	29	.	GRCh37	17	975919	975919	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200320950	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	74	0	ENST00000302538.5:c.829T>C	p.Phe277Leu	p.F277L	ENST00000302538	NM_021962.3	277	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS10999.1	829	RADIA|VARSCANS	.	CAGGAAGTTCT	NONE	by1000G	.	PROSITE_profiles:PS50010,hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000303909	.	8/23	.	.	.	.	.	.	.	.	rs200320950	8/23	PASS	ENST00000302538	Transcript	.	.	ENSG00000159842	81	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ABR_HUMAN	ABR	HGNC	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN	.	UPI00001AED3D	SNV	ABR,missense_variant,p.Phe240Leu,ENST00000291107,;ABR,missense_variant,p.Phe59Leu,ENST00000536794,;ABR,missense_variant,p.Phe231Leu,ENST00000544583,;ABR,missense_variant,p.Phe277Leu,ENST00000302538,;ABR,missense_variant,p.Phe231Leu,ENST00000574437,;ABR,missense_variant,p.Phe62Leu,ENST00000571945,;ABR,downstream_gene_variant,,ENST00000570441,;ABR,upstream_gene_variant,,ENST00000574544,;ABR,non_coding_transcript_exon_variant,,ENST00000576964,;ABR,non_coding_transcript_exon_variant,,ENST00000573667,;	976	74	26	SUCCESS
AFG3L2	10939	.	GRCh37	18	12353119	12353119	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	20	0	ENST00000269143.3:c.1203T>C	p.Pro401=	p.P401=	ENST00000269143	NM_006796.2	401	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11859.1	1203	RADIA|VARSCANS	.	ATGCAAGGGGC	NONE	.	.	HAMAP:MF_01458,hmmpanther:PTHR23076:SF45,hmmpanther:PTHR23076,Gene3D:3.40.50.300,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01241,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000269143	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000269143	Transcript	.	.	ENSG00000141385	315	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AFG32_HUMAN	AFG3L2	HGNC	D3DUJ0_HUMAN	.	UPI000013D7FF	SNV	AFG3L2,synonymous_variant,p.%3D,ENST00000269143,;AFG3L2,upstream_gene_variant,,ENST00000588893,;	1435	20	35	SUCCESS
PTPN2	5771	.	GRCh37	18	12802149	12802149	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	48	65	0	ENST00000309660.5:c.860A>C	p.Lys287Thr	p.K287T	ENST00000309660	NM_002828.3	287	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS11865.1	860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGTTTCTAG	NONE	.	.	Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000926,Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF200	.	.	ENSP00000311857	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000309660	Transcript	.	.	ENSG00000175354	9650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.461)	.	tolerated(0.07)	.	PTN2_HUMAN	PTPN2	HGNC	K7ER87_HUMAN,D3DUJ3_HUMAN	.	UPI000017284E	SNV	PTPN2,missense_variant,p.Lys287Thr,ENST00000309660,;PTPN2,missense_variant,p.Lys2Thr,ENST00000591901,;PTPN2,missense_variant,p.Lys46Thr,ENST00000587703,;PTPN2,missense_variant,p.Lys36Thr,ENST00000585666,;PTPN2,missense_variant,p.Lys310Thr,ENST00000591115,;PTPN2,missense_variant,p.Lys287Thr,ENST00000353319,;PTPN2,missense_variant,p.Lys287Thr,ENST00000327283,;PTPN2,missense_variant,p.Lys258Thr,ENST00000591497,;PTPN2,splice_region_variant,,ENST00000591305,;	954	65	94	SUCCESS
RTBDN	83546	.	GRCh37	19	12945925	12945925	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs371005746	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	41	0	ENST00000393233.2:c.-233G>T		p.*78*	ENST00000393233	NM_001270440.1			0	T:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS12283.1	.	RADIA|VARSCANS	.	CTCCCCTAATC	NONE	.	.	.	.	T:0	ENSP00000326253	.	1/7	.	.	.	.	.	.	.	.	rs371005746	1/7	PASS	ENST00000322912	Transcript	.	.	ENSG00000132026	30310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTBDN_HUMAN	RTBDN	HGNC	K7EN64_HUMAN,K7EKV3_HUMAN,K7EIS2_HUMAN	.	UPI000006D823	SNV	RTBDN,5_prime_UTR_variant,,ENST00000393233,;RTBDN,5_prime_UTR_variant,,ENST00000587549,;RTBDN,5_prime_UTR_variant,,ENST00000322912,;RTBDN,5_prime_UTR_variant,,ENST00000589272,;RTBDN,5_prime_UTR_variant,,ENST00000591512,;MAST1,intron_variant,,ENST00000591495,;RTBDN,upstream_gene_variant,,ENST00000586969,;RTBDN,upstream_gene_variant,,ENST00000589681,;RTBDN,upstream_gene_variant,,ENST00000585384,;RTBDN,upstream_gene_variant,,ENST00000589808,;RTBDN,upstream_gene_variant,,ENST00000592204,;MAST1,upstream_gene_variant,,ENST00000251472,;RTBDN,upstream_gene_variant,,ENST00000458671,;RTBDN,upstream_gene_variant,,ENST00000590404,;RTBDN,upstream_gene_variant,,ENST00000589567,;CTD-2265O21.3,downstream_gene_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;MAST1,upstream_gene_variant,,ENST00000590883,;	306	41	37	SUCCESS
BRD4	23476	.	GRCh37	19	15359981	15359981	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	13	0	ENST00000263377.2:c.2159-4408T>C		p.*720*	ENST00000263377	NM_058243.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12328.1	.	RADIA|MUTECT|MUSE	.	TCCATAACTTG	NONE	.	.	.	.	.	ENSP00000263377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263377	Transcript	.	.	ENSG00000141867	13575	.	.	MODIFIER	11/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRD4_HUMAN	BRD4	HGNC	Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN	.	UPI0000126ACE	SNV	BRD4,3_prime_UTR_variant,,ENST00000371835,;BRD4,intron_variant,,ENST00000263377,;BRD4,downstream_gene_variant,,ENST00000360016,;BRD4,downstream_gene_variant,,ENST00000595926,;BRD4,upstream_gene_variant,,ENST00000594066,;	.	13	11	SUCCESS
ZNF724P	0	.	GRCh37	19	23433061	23433061	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs774412752	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	24	0	ENST00000418100.1:c.-17C>T		p.*6*	ENST00000418100				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CAGGGGAGGCC	NONE	byFrequency	.	.	.	.	ENSP00000413411	.	1/4	.	.	.	.	.	.	.	.	rs774412752	1/4	PASS	ENST00000418100	Transcript	.	.	ENSG00000196081	32460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN724_HUMAN	ZNF724P	HGNC	M0R3J2_HUMAN	.	UPI0000EE61E4	SNV	ZNF724P,5_prime_UTR_variant,,ENST00000597537,;ZNF724P,5_prime_UTR_variant,,ENST00000418100,;ZNF724P,5_prime_UTR_variant,,ENST00000597037,;RP11-15H20.5,downstream_gene_variant,,ENST00000593576,;RP11-15H20.5,downstream_gene_variant,,ENST00000600039,;	102	24	9	SUCCESS
KMT2B	9757	.	GRCh37	19	36216120	36216120	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	15	26	0	ENST00000222270.7:c.3529-1G>C		p.X1177_splice	ENST00000222270	NM_014727.1	1177		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46055.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGAGGA	NONE	.	.	.	.	.	ENSP00000222270	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	HIGH	10/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,splice_acceptor_variant,,ENST00000420124,;KMT2B,splice_acceptor_variant,,ENST00000222270,;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,splice_acceptor_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;	.	26	28	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36272086	36272086	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	28	0	ENST00000314737.5:c.1017T>G	p.Ile339Met	p.I339M	ENST00000314737	NM_052948.3	339	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS12477.1	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTGAGGC	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8,PROSITE_profiles:PS50238	.	.	ENSP00000320038	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.52)	.	deleterious_low_confidence(0)	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,missense_variant,p.Ile339Met,ENST00000007510,;ARHGAP33,missense_variant,p.Ile203Met,ENST00000378944,;ARHGAP33,missense_variant,p.Ile339Met,ENST00000314737,;ARHGAP33,upstream_gene_variant,,ENST00000587447,;ARHGAP33,upstream_gene_variant,,ENST00000588248,;ARHGAP33,downstream_gene_variant,,ENST00000221905,;ARHGAP33,downstream_gene_variant,,ENST00000589133,;ARHGAP33,upstream_gene_variant,,ENST00000591438,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000587984,;ARHGAP33,upstream_gene_variant,,ENST00000586918,;	1101	28	32	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36272101	36272101	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	32	0	ENST00000314737.5:c.1032G>T	p.Val344=	p.V344=	ENST00000314737	NM_052948.3	344	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12477.1	1032	RADIA|VARSCANS	.	GGGGTGGTGGA	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8,PROSITE_profiles:PS50238	.	.	ENSP00000320038	.	12/21	.	.	.	.	.	.	.	.	.	12/21	oxog	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,synonymous_variant,p.%3D,ENST00000007510,;ARHGAP33,synonymous_variant,p.%3D,ENST00000378944,;ARHGAP33,synonymous_variant,p.%3D,ENST00000314737,;ARHGAP33,upstream_gene_variant,,ENST00000587447,;ARHGAP33,upstream_gene_variant,,ENST00000588248,;ARHGAP33,downstream_gene_variant,,ENST00000221905,;ARHGAP33,downstream_gene_variant,,ENST00000589133,;ARHGAP33,upstream_gene_variant,,ENST00000591438,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000587984,;ARHGAP33,upstream_gene_variant,,ENST00000586918,;	1116	32	29	SUCCESS
ZFP36	7538	.	GRCh37	19	39899108	39899108	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	61	0	ENST00000248673.3:c.750C>A	p.Cys250Ter	p.C250*	ENST00000248673	NM_003407.3	250	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS12534.2	768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCCCCTC	NONE	.	.	hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF3	.	.	ENSP00000469647	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597629	Transcript	.	.	ENSG00000128016	12862	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZFP36	HGNC	M0QY76_HUMAN	.	UPI000059D71E	SNV	ZFP36,stop_gained,p.Cys256Ter,ENST00000597629,;ZFP36,stop_gained,p.Cys267Ter,ENST00000594442,;ZFP36,stop_gained,p.Cys250Ter,ENST00000248673,;PLEKHG2,upstream_gene_variant,,ENST00000378550,;ZFP36,downstream_gene_variant,,ENST00000600033,;PLEKHG2,upstream_gene_variant,,ENST00000409794,;PLEKHG2,upstream_gene_variant,,ENST00000458508,;ZFP36,downstream_gene_variant,,ENST00000594045,;PLEKHG2,upstream_gene_variant,,ENST00000425673,;PLEKHG2,upstream_gene_variant,,ENST00000595920,;MIR4530,downstream_gene_variant,,ENST00000581459,;	842	62	47	SUCCESS
RFPL4A	342931	.	GRCh37	19	56274197	56274197	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs780977039	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	34	168	0	ENST00000434937.2:c.520C>T	p.Arg174Ter	p.R174*	ENST00000434937	NM_001145014.1	174	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS46201.1	520	RADIA|MUTECT|MUSE|VARSCANS	.	TGAACCGACAG	BUFFER|p.V172V|c.516G>C|3	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF202,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000392936	.	3/3	.	.	.	.	.	.	.	.	rs780977039	3/3	PASS	ENST00000434937	Transcript	.	.	ENSG00000223638	16449	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFPLA_HUMAN	RFPL4A	HGNC	.	.	UPI0000D6181F	SNV	RFPL4A,stop_gained,p.Arg174Ter,ENST00000434937,;	691	168	184	SUCCESS
MUC16	94025	.	GRCh37	19	9006378	9006378	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	41	0	ENST00000397910.4:c.39640C>G	p.Pro13214Ala	p.P13214A	ENST00000397910	NM_024690.2	13214	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS54212.1	39640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGGCCAA	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	45/84	.	.	.	.	.	.	.	.	.	45/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Pro13214Ala,ENST00000397910,;MUC16,missense_variant,p.Pro54Ala,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000380951,;MUC16,missense_variant,p.Pro54Ala,ENST00000601404,;MUC16,upstream_gene_variant,,ENST00000596768,;	39844	41	38	SUCCESS
PIN1	5300	.	GRCh37	19	9949168	9949168	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774388688	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	45	0	ENST00000247970.4:c.115G>T	p.Gly39Cys	p.G39C	ENST00000247970	NM_006221.3	39	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS12220.1	115	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGGCAAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50020,hmmpanther:PTHR10657,SMART_domains:SM00456,Superfamily_domains:SSF51045	.	.	ENSP00000247970	.	2/4	.	.	.	.	.	.	.	.	rs774388688,COSM322654	2/4	oxog	ENST00000247970	Transcript	.	.	ENSG00000127445	8988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.994)	.	deleterious(0.01)	0,1	PIN1_HUMAN	PIN1	HGNC	Q8NFL2_HUMAN	.	UPI000004062D	SNV	PIN1,missense_variant,p.Gly39Cys,ENST00000587625,;PIN1,missense_variant,p.Gly39Cys,ENST00000588695,;PIN1,missense_variant,p.Gly39Cys,ENST00000247970,;CTD-2623N2.11,upstream_gene_variant,,ENST00000591174,;PIN1,non_coding_transcript_exon_variant,,ENST00000589058,;PIN1,non_coding_transcript_exon_variant,,ENST00000590540,;PIN1,non_coding_transcript_exon_variant,,ENST00000380889,;PIN1,non_coding_transcript_exon_variant,,ENST00000585442,;PIN1,downstream_gene_variant,,ENST00000592184,;PIN1,3_prime_UTR_variant,,ENST00000586352,;PIN1,non_coding_transcript_exon_variant,,ENST00000586025,;PIN1,upstream_gene_variant,,ENST00000591777,;	137	45	41	SUCCESS
PRDM2	7799	.	GRCh37	1	14075897	14075897	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	51	0	ENST00000235372.7:c.426G>A	p.Gly142=	p.G142=	ENST00000235372	NM_012231.4	142	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS150.1	426	RADIA|VARSCANS	.	AATGGGGAAGA	NONE	.	.	Superfamily_domains:SSF82199,SMART_domains:SM00317,PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4	.	.	ENSP00000235372	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,synonymous_variant,p.%3D,ENST00000311066,;PRDM2,synonymous_variant,p.%3D,ENST00000484063,;PRDM2,synonymous_variant,p.%3D,ENST00000376048,;PRDM2,synonymous_variant,p.%3D,ENST00000235372,;PRDM2,upstream_gene_variant,,ENST00000505823,;PRDM2,upstream_gene_variant,,ENST00000343137,;PRDM2,upstream_gene_variant,,ENST00000413440,;PRDM2,upstream_gene_variant,,ENST00000503842,;PRDM2,upstream_gene_variant,,ENST00000407521,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502724,;PRDM2,non_coding_transcript_exon_variant,,ENST00000502727,;PRDM2,3_prime_UTR_variant,,ENST00000491134,;PRDM2,upstream_gene_variant,,ENST00000491815,;	1282	51	39	SUCCESS
CD1E	913	.	GRCh37	1	158325802	158325802	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	82	0	ENST00000368167.3:c.811G>A	p.Ala271Thr	p.A271T	ENST00000368167	NM_030893.3	271	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41417.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGCAACC	BUFFER|p.R270*|c.808C>T|4	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000357149	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.04)	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,missense_variant,p.Ala181Thr,ENST00000368165,;CD1E,missense_variant,p.Ala269Thr,ENST00000434258,;CD1E,missense_variant,p.Ala82Thr,ENST00000368166,;CD1E,missense_variant,p.Ala172Thr,ENST00000444681,;CD1E,missense_variant,p.Ala271Thr,ENST00000368160,;CD1E,missense_variant,p.Ala271Thr,ENST00000368167,;CD1E,missense_variant,p.Ala181Thr,ENST00000368156,;CD1E,missense_variant,p.Ala82Thr,ENST00000452291,;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368161,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368164,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	1050	82	112	SUCCESS
DUSP27	0	.	GRCh37	1	167096471	167096471	+	synonymous_variant	Silent	SNP	C	C	A	rs756161976	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	30	0	ENST00000361200.2:c.2103C>A	p.Ser701=	p.S701=	ENST00000361200		701	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS30932.1	2103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCAACCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs756161976	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	2269	30	24	SUCCESS
CRB1	23418	.	GRCh37	1	197404300	197404300	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs62636275	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	56	0	ENST00000367400.3:c.3307G>T	p.Gly1103Ter	p.G1103*	ENST00000367400	NM_201253.2	1103	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS1390.1	3307	RADIA|VARSCANS	not_provided,pathogenic	AAATCGGAGGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24049,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000356370	.	9/12	.	.	.	.	.	.	.	.	rs62636275,CM040718,CM057655,RISN_CRB1:c.3307G>A,COSM1242154,COSM678305	9/12	PASS	ENST00000367400	Transcript	.	.	ENSG00000134376	2343	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1,1,0,1,1	.	.	.	.	.	0,0,0,0,1,1	CRUM1_HUMAN	CRB1	HGNC	B7Z824_HUMAN	.	UPI0000073345	SNV	CRB1,stop_gained,p.Gly584Ter,ENST00000544212,;CRB1,stop_gained,p.Gly991Ter,ENST00000367399,;CRB1,stop_gained,p.Gly1079Ter,ENST00000535699,;CRB1,stop_gained,p.Gly484Ter,ENST00000367397,;CRB1,stop_gained,p.Gly1103Ter,ENST00000367400,;CRB1,intron_variant,,ENST00000538660,;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,stop_gained,p.Gly1103Ter,ENST00000484075,;	3442	56	35	SUCCESS
CACNA1S	779	.	GRCh37	1	201058492	201058492	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	41	0	ENST00000362061.3:c.794G>A	p.Trp265Ter	p.W265*	ENST00000362061	NM_000069.2	265	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS1407.1	794	RADIA|VARSCANS	.	CTGGCCAGCCG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520	.	.	ENSP00000355192	.	6/44	.	.	.	.	.	.	.	.	.	6/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,stop_gained,p.Trp265Ter,ENST00000367338,;CACNA1S,stop_gained,p.Trp265Ter,ENST00000362061,;	1021	41	28	SUCCESS
USH2A	7399	.	GRCh37	1	216462747	216462747	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	50	0	ENST00000307340.3:c.1846A>G	p.Asn616Asp	p.N616D	ENST00000307340	NM_206933.2	616	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS31025.1	1846	RADIA|VARSCANS	.	ACAGTTCCTTC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	11/72	.	.	.	.	.	.	.	.	.	11/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.744)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Asn616Asp,ENST00000366942,;USH2A,missense_variant,p.Asn616Asp,ENST00000366943,;USH2A,missense_variant,p.Asn616Asp,ENST00000307340,;	2233	50	34	SUCCESS
ZBTB40	9923	.	GRCh37	1	22839460	22839460	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	21	0	ENST00000375647.4:c.2505T>C	p.Pro835=	p.P835=	ENST00000375647	NM_014870.3	835	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS224.1	2505	RADIA|VARSCANS	.	AAGCCTTTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000384527	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,synonymous_variant,p.%3D,ENST00000404138,;ZBTB40,synonymous_variant,p.%3D,ENST00000375647,;ZBTB40,synonymous_variant,p.%3D,ENST00000374651,;ZBTB40-IT1,upstream_gene_variant,,ENST00000438551,;	3016	21	32	SUCCESS
OR14K1	343170	.	GRCh37	1	247902126	247902126	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	35	55	0	ENST00000283225.2:c.210T>C	p.Cys70=	p.C70=	ENST00000283225		70	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	.	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGTCTCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000283225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000283225	Transcript	.	.	ENSG00000153230	15025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O14K1_HUMAN	OR14K1	HGNC	.	.	UPI0000041CBA	SNV	OR14K1,synonymous_variant,p.%3D,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	210	55	36	SUCCESS
BMP8B	656	.	GRCh37	1	40226097	40226097	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs765295542	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	42	0	ENST00000372827.3:c.1203C>A	p.Cys401Ter	p.C401*	ENST00000372827	NM_001720.3	401	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS444.1	1203	RADIA|VARSCANS	.	CAGTGGCAGCC	NONE	.	.	Superfamily_domains:SSF57501,SMART_domains:SM00204,Gene3D:2.10.90.10,Pfam_domain:PF00019,hmmpanther:PTHR11848:SF119,hmmpanther:PTHR11848,PROSITE_profiles:PS51362	.	.	ENSP00000361915	.	7/7	.	.	.	.	.	.	.	.	rs765295542	7/7	PASS	ENST00000372827	Transcript	.	.	ENSG00000116985	1075	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BMP8B_HUMAN	BMP8B	HGNC	.	.	UPI000013C9D9	SNV	BMP8B,stop_gained,p.Cys401Ter,ENST00000372827,;PPIE,intron_variant,,ENST00000372830,;PPIE,intron_variant,,ENST00000356511,;BMP8B,downstream_gene_variant,,ENST00000397360,;PPIE,upstream_gene_variant,,ENST00000467741,;	1579	42	35	SUCCESS
WDR78	0	.	GRCh37	1	67292730	67292730	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	80	148	0	ENST00000371026.3:c.2113-1G>A		p.X705_splice	ENST00000371026	NM_024763.4	705		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCTAGAA	NONE	.	.	.	.	.	ENSP00000360065	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371026	Transcript	.	.	ENSG00000152763	26252	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR78_HUMAN	WDR78	HGNC	.	.	UPI00004561EF	SNV	WDR78,splice_acceptor_variant,,ENST00000431318,;WDR78,splice_acceptor_variant,,ENST00000371026,;WDR78,splice_acceptor_variant,,ENST00000464352,;RP11-342H21.2,non_coding_transcript_exon_variant,,ENST00000456389,;WDR78,splice_acceptor_variant,,ENST00000491297,;	.	149	174	SUCCESS
CAMTA1	23261	.	GRCh37	1	6845604	6845604	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	12	0	ENST00000303635.7:c.14A>C	p.Glu5Ala	p.E5A	ENST00000303635	NM_015215.2	5	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS30576.1	14	RADIA|MUTECT|VARSCANS	.	CGCGGAGGGGA	NONE	.	.	hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	.	.	ENSP00000306522	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000303635	Transcript	.	.	ENSG00000171735	18806	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.213)	.	deleterious_low_confidence(0.02)	.	CMTA1_HUMAN	CAMTA1	HGNC	.	.	UPI00001C1D72	SNV	CAMTA1,missense_variant,p.Glu5Ala,ENST00000557126,;CAMTA1,missense_variant,p.Glu5Ala,ENST00000467404,;CAMTA1,missense_variant,p.Glu5Ala,ENST00000303635,;CAMTA1,missense_variant,p.Glu5Ala,ENST00000439411,;CAMTA1,missense_variant,p.Glu5Ala,ENST00000473578,;RP11-312B8.1,upstream_gene_variant,,ENST00000442889,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000476163,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000490738,;CAMTA1,upstream_gene_variant,,ENST00000461311,;	221	12	21	SUCCESS
PRKACB	5567	.	GRCh37	1	84609990	84609990	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	26	0	ENST00000370689.2:c.47-34870G>T		p.*16*	ENST00000370689	NM_002731.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS693.1	.	RADIA|VARSCANS	.	GTTGTGAGCTC	NONE	.	.	.	.	.	ENSP00000359719	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000370685	Transcript	.	.	ENSG00000142875	9381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAPCB_HUMAN	PRKACB	HGNC	.	.	UPI00001A9CCB	SNV	PRKACB,5_prime_UTR_variant,,ENST00000370685,;PRKACB,intron_variant,,ENST00000370689,;PRKACB,intron_variant,,ENST00000370688,;PRKACB,upstream_gene_variant,,ENST00000470673,;	37	26	44	SUCCESS
FERMT1	55612	.	GRCh37	20	6096555	6096555	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs184921922	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	43	0	ENST00000217289.4:c.288G>T	p.Met96Ile	p.M96I	ENST00000217289	NM_017671.4	96	atG/atT	0	.	T:0.0008	.	T:0	.	A	M/I	protein_coding	YES	CCDS13098.1	288	RADIA|MUSE|VARSCANS	.	CGCAGCATTTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160,SMART_domains:SM00295	T:0	.	ENSP00000217289	T:0	3/15	.	.	.	.	.	.	.	.	rs184921922	3/15	oxog	ENST00000217289	Transcript	1	T:0.0002	ENSG00000101311	15889	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.017)	T:0	tolerated(0.48)	.	FERM1_HUMAN	FERMT1	HGNC	Q5JWV4_HUMAN,G3V1L6_HUMAN	.	UPI00001285DD	SNV	FERMT1,missense_variant,p.Met96Ile,ENST00000378844,;FERMT1,missense_variant,p.Met96Ile,ENST00000217289,;FERMT1,5_prime_UTR_variant,,ENST00000536936,;	1077	43	56	SUCCESS
MICALL1	85377	.	GRCh37	22	38313779	38313779	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	24	0	ENST00000215957.6:c.403G>A	p.Val135Met	p.V135M	ENST00000215957	NM_033386.3	135	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13961.1	403	RADIA|VARSCANS	.	CTCCAGTGGAA	NONE	.	.	hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33	.	.	ENSP00000215957	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.021)	.	tolerated(0.13)	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,missense_variant,p.Val135Met,ENST00000215957,;MICALL1,missense_variant,p.Val51Met,ENST00000445494,;MICALL1,intron_variant,,ENST00000489812,;	529	24	25	SUCCESS
NPHP1	4867	.	GRCh37	2	110959033	110959033	+	synonymous_variant	Silent	SNP	A	A	G	rs770032884	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	60	0	ENST00000393272.3:c.108T>C	p.Ala36=	p.A36=	ENST00000393272	NM_207181.2	36	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS2086.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGAGCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15176:SF1,hmmpanther:PTHR15176	.	.	ENSP00000313169	.	2/20	.	.	.	.	.	.	.	.	rs770032884	2/20	PASS	ENST00000316534	Transcript	.	.	ENSG00000144061	7905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHP1_HUMAN	NPHP1	HGNC	.	.	UPI0000358960	SNV	NPHP1,synonymous_variant,p.%3D,ENST00000445609,;NPHP1,synonymous_variant,p.%3D,ENST00000355301,;NPHP1,synonymous_variant,p.%3D,ENST00000316534,;NPHP1,synonymous_variant,p.%3D,ENST00000417665,;NPHP1,synonymous_variant,p.%3D,ENST00000393272,;NPHP1,synonymous_variant,p.%3D,ENST00000418527,;NPHP1,3_prime_UTR_variant,,ENST00000449600,;NPHP1,non_coding_transcript_exon_variant,,ENST00000496524,;NPHP1,non_coding_transcript_exon_variant,,ENST00000461707,;	182	60	80	SUCCESS
MYO7B	4648	.	GRCh37	2	128366307	128366307	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760403230	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	42	0	ENST00000409816.2:c.2668G>T	p.Gly890Trp	p.G890W	ENST00000409816		890	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS46405.1	2668	RADIA|VARSCANS	.	CCGAGGGGCAG	BUFFER|p.A888A|c.2664C>T|3,BUFFER|p.A888A|c.2664C>T|3	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF352	.	.	ENSP00000415090	.	22/47	.	.	.	.	.	.	.	.	rs760403230	22/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.267)	.	deleterious(0.01)	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,missense_variant,p.Gly890Trp,ENST00000389524,;MYO7B,missense_variant,p.Gly890Trp,ENST00000409816,;MYO7B,missense_variant,p.Gly890Trp,ENST00000428314,;MYO7B,upstream_gene_variant,,ENST00000563538,;	2721	42	39	SUCCESS
PKP4	8502	.	GRCh37	2	159519545	159519545	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	21	0	ENST00000389759.3:c.2348C>A	p.Pro783Gln	p.P783Q	ENST00000389759	NM_003628.3	783	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS33305.1	2348	RADIA|VARSCANS	.	TGAGCCAAGTT	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Superfamily_domains:SSF48371	.	.	ENSP00000374409	.	14/22	.	.	.	.	.	.	.	.	COSM1528662	14/22	oxog	ENST00000389759	Transcript	.	.	ENSG00000144283	9026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.439)	.	tolerated(0.2)	1	PKP4_HUMAN	PKP4	HGNC	Q53TM5_HUMAN	.	UPI000044D379	SNV	PKP4,missense_variant,p.Pro783Gln,ENST00000389759,;PKP4,missense_variant,p.Pro783Gln,ENST00000389757,;AC005042.4,intron_variant,,ENST00000342892,;PKP4,non_coding_transcript_exon_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,downstream_gene_variant,,ENST00000492496,;PKP4,upstream_gene_variant,,ENST00000483881,;PKP4,downstream_gene_variant,,ENST00000421462,;	2460	21	26	SUCCESS
ERBB4	2066	.	GRCh37	2	212615384	212615384	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	31	0	ENST00000342788.4:c.602C>A	p.Thr201Lys	p.T201K	ENST00000342788	NM_005235.2	201	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS2394.1	602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGTGGGT	NONE	.	.	hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF00757,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF52058	.	.	ENSP00000342235	.	5/28	.	.	.	.	.	.	.	.	COSM1016000	5/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.15)	1	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Thr201Lys,ENST00000402597,;ERBB4,missense_variant,p.Thr201Lys,ENST00000436443,;ERBB4,missense_variant,p.Thr201Lys,ENST00000260943,;ERBB4,missense_variant,p.Thr201Lys,ENST00000342788,;ERBB4,downstream_gene_variant,,ENST00000435846,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484474,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	913	31	42	SUCCESS
GMPPA	29926	.	GRCh37	2	220371496	220371496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	33	0	ENST00000313597.5:c.1239C>A	p.Ser413Arg	p.S413R	ENST00000313597	NM_013335.3	413	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS2441.1	1239	RADIA|VARSCANS	.	CGAAGCTTCAC	NONE	.	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF85	.	.	ENSP00000350949	.	13/13	.	.	.	.	.	.	.	.	.	13/13	oxog	ENST00000358215	Transcript	.	.	ENSG00000144591	22923	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.878)	.	deleterious(0.01)	.	GMPPA_HUMAN	GMPPA	HGNC	C9JAH0_HUMAN,C9J255_HUMAN	.	UPI000006D41C	SNV	GMPPA,missense_variant,p.Ser413Arg,ENST00000373908,;GMPPA,missense_variant,p.Ser413Arg,ENST00000341142,;GMPPA,missense_variant,p.Ser413Arg,ENST00000358215,;GMPPA,missense_variant,p.Ser466Arg,ENST00000373917,;GMPPA,missense_variant,p.Ser413Arg,ENST00000313597,;GMPPA,downstream_gene_variant,,ENST00000435316,;GMPPA,downstream_gene_variant,,ENST00000455657,;AC053503.11,intron_variant,,ENST00000429882,;GMPPA,3_prime_UTR_variant,,ENST00000443704,;GMPPA,non_coding_transcript_exon_variant,,ENST00000481170,;GMPPA,downstream_gene_variant,,ENST00000496536,;GMPPA,downstream_gene_variant,,ENST00000480506,;GMPPA,downstream_gene_variant,,ENST00000480034,;	1608	33	16	SUCCESS
RASGRP3	25780	.	GRCh37	2	33752434	33752434	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	18	0	ENST00000402538.3:c.1038C>A	p.Ala346=	p.A346=	ENST00000402538	NM_170672.2	346	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46256.1	1038	RADIA|VARSCANS	.	AATGCCTCTCA	NONE	.	.	Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,hmmpanther:PTHR23113:SF178,hmmpanther:PTHR23113,PROSITE_profiles:PS50009	.	.	ENSP00000384192	.	10/18	.	.	.	.	.	.	.	.	.	10/18	oxog	ENST00000403687	Transcript	.	.	ENSG00000152689	14545	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRP3_HUMAN	RASGRP3	HGNC	C9K0P4_HUMAN,C9JWP0_HUMAN,C9JSS2_HUMAN,C9J9C9_HUMAN,C9IYA5_HUMAN	.	UPI0000074694	SNV	RASGRP3,synonymous_variant,p.%3D,ENST00000407811,;RASGRP3,synonymous_variant,p.%3D,ENST00000402538,;RASGRP3,synonymous_variant,p.%3D,ENST00000403687,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000477927,;RASGRP3,synonymous_variant,p.%3D,ENST00000419772,;RASGRP3,non_coding_transcript_exon_variant,,ENST00000490150,;RASGRP3,upstream_gene_variant,,ENST00000468856,;	1778	18	21	SUCCESS
SLC8A1	6546	.	GRCh37	2	40657282	40657282	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766064333	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	49	0	ENST00000332839.4:c.139G>T	p.Gly47Cys	p.G47C	ENST00000332839	NM_021097.2	47	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS1806.1	139	RADIA|VARSCANS	.	TTCACCAGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	rs766064333	2/11	oxog	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.443)	.	tolerated(0.1)	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Gly47Cys,ENST00000408028,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000448531,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000406785,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000542024,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000403092,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000405269,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000332839,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000455476,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000542756,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000417271,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000406391,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000405901,;SLC8A1,missense_variant,p.Gly47Cys,ENST00000402441,;SLC8A1,missense_variant,p.Gly44Cys,ENST00000407929,;	173	49	67	SUCCESS
EFEMP1	2202	.	GRCh37	2	56104946	56104946	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs950717015	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	53	0	ENST00000355426.3:c.695C>A	p.Pro232Gln	p.P232Q	ENST00000355426		232	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS1857.1	695	MUTECT|VARSCANS	.	AGCCTGGTGTA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000378058	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.012)	.	tolerated(0.15)	.	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Pro232Gln,ENST00000355426,;EFEMP1,missense_variant,p.Pro232Gln,ENST00000394554,;EFEMP1,missense_variant,p.Pro232Gln,ENST00000394555,;EFEMP1,intron_variant,,ENST00000424836,;	1131	53	64	SUCCESS
IRAK2	3656	.	GRCh37	3	10206641	10206641	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	79	0	ENST00000256458.4:c.3G>T	p.Met1?	p.M1?	ENST00000256458	NM_001570.3	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS33697.1	3	RADIA|VARSCANS	.	GCCATGGCCTG	NONE	.	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF2	.	.	ENSP00000256458	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000256458	Transcript	.	.	ENSG00000134070	6113	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	IRAK2_HUMAN	IRAK2	HGNC	.	.	UPI000020AB17	SNV	IRAK2,start_lost,p.Met1?,ENST00000256458,;	93	79	48	SUCCESS
FBXO40	51725	.	GRCh37	3	121340340	121340340	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1560132174	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	35	0	ENST00000338040.4:c.64C>T	p.His22Tyr	p.H22Y	ENST00000338040	NM_016298.3	22	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS33835.1	64	RADIA|VARSCANS	.	ACCGCCACTGC	NONE	.	.	hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1	.	.	ENSP00000337510	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338040	Transcript	.	.	ENSG00000163833	29816	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.24)	.	FBX40_HUMAN	FBXO40	HGNC	.	.	UPI000020A046	SNV	FBXO40,missense_variant,p.His22Tyr,ENST00000338040,;	478	35	33	SUCCESS
CEP70	80321	.	GRCh37	3	138219253	138219253	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	65	109	0	ENST00000264982.3:c.1525C>T	p.Leu509Phe	p.L509F	ENST00000264982	NM_024491.2	509	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3102.1	1525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGAGTTCTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594	.	.	ENSP00000264982	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000264982	Transcript	.	.	ENSG00000114107	29972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	CEP70_HUMAN	CEP70	HGNC	C9JZ04_HUMAN,C9J0F4_HUMAN	.	UPI000013D5A3	SNV	CEP70,missense_variant,p.Leu509Phe,ENST00000481834,;CEP70,missense_variant,p.Leu491Phe,ENST00000474781,;CEP70,missense_variant,p.Leu357Phe,ENST00000489254,;CEP70,missense_variant,p.Leu489Phe,ENST00000542237,;CEP70,missense_variant,p.Leu509Phe,ENST00000484888,;CEP70,missense_variant,p.Leu509Phe,ENST00000264982,;CEP70,upstream_gene_variant,,ENST00000459695,;	1792	109	173	SUCCESS
TFDP2	7029	.	GRCh37	3	141678612	141678612	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	58	0	ENST00000489671.1:c.955G>T	p.Gly319Ter	p.G319*	ENST00000489671		319	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS54650.1	955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCCATCC	NONE	.	.	hmmpanther:PTHR12548,hmmpanther:PTHR12548:SF5,Pfam_domain:PF08781,PIRSF_domain:PIRSF009404,Superfamily_domains:SSF144074	.	.	ENSP00000420616	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000489671	Transcript	.	.	ENSG00000114126	11751	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFDP2_HUMAN	TFDP2	HGNC	C9JTZ9_HUMAN,C9JNB6_HUMAN,C9JCY5_HUMAN,C9J5D5_HUMAN,C9J461_HUMAN	.	UPI0000136B56	SNV	TFDP2,stop_gained,p.Gly258Ter,ENST00000479040,;TFDP2,stop_gained,p.Gly259Ter,ENST00000467072,;TFDP2,stop_gained,p.Gly259Ter,ENST00000499676,;TFDP2,stop_gained,p.Gly291Ter,ENST00000397991,;TFDP2,stop_gained,p.Gly33Ter,ENST00000474279,;TFDP2,stop_gained,p.Gly259Ter,ENST00000310282,;TFDP2,stop_gained,p.Gly319Ter,ENST00000489671,;TFDP2,stop_gained,p.Gly243Ter,ENST00000317104,;TFDP2,stop_gained,p.Gly222Ter,ENST00000495310,;TFDP2,stop_gained,p.Gly183Ter,ENST00000477292,;TFDP2,stop_gained,p.Gly259Ter,ENST00000486111,;TFDP2,downstream_gene_variant,,ENST00000478006,;TFDP2,downstream_gene_variant,,ENST00000497579,;TFDP2,downstream_gene_variant,,ENST00000467667,;TFDP2,3_prime_UTR_variant,,ENST00000487734,;	1386	58	54	SUCCESS
TFDP2	7029	.	GRCh37	3	141678613	141678613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	60	0	ENST00000489671.1:c.954G>T	p.Met318Ile	p.M318I	ENST00000489671		318	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS54650.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCCATCCG	NONE	.	.	hmmpanther:PTHR12548,hmmpanther:PTHR12548:SF5,Pfam_domain:PF08781,PIRSF_domain:PIRSF009404,Superfamily_domains:SSF144074	.	.	ENSP00000420616	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000489671	Transcript	.	.	ENSG00000114126	11751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0.05)	.	TFDP2_HUMAN	TFDP2	HGNC	C9JTZ9_HUMAN,C9JNB6_HUMAN,C9JCY5_HUMAN,C9J5D5_HUMAN,C9J461_HUMAN	.	UPI0000136B56	SNV	TFDP2,missense_variant,p.Met257Ile,ENST00000479040,;TFDP2,missense_variant,p.Met258Ile,ENST00000467072,;TFDP2,missense_variant,p.Met258Ile,ENST00000499676,;TFDP2,missense_variant,p.Met290Ile,ENST00000397991,;TFDP2,missense_variant,p.Met32Ile,ENST00000474279,;TFDP2,missense_variant,p.Met258Ile,ENST00000310282,;TFDP2,missense_variant,p.Met318Ile,ENST00000489671,;TFDP2,missense_variant,p.Met242Ile,ENST00000317104,;TFDP2,missense_variant,p.Met221Ile,ENST00000495310,;TFDP2,missense_variant,p.Met182Ile,ENST00000477292,;TFDP2,missense_variant,p.Met258Ile,ENST00000486111,;TFDP2,downstream_gene_variant,,ENST00000478006,;TFDP2,downstream_gene_variant,,ENST00000497579,;TFDP2,downstream_gene_variant,,ENST00000467667,;TFDP2,3_prime_UTR_variant,,ENST00000487734,;	1385	60	53	SUCCESS
SUCNR1	56670	.	GRCh37	3	151598552	151598552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	53	130	0	ENST00000362032.5:c.221G>T	p.Cys74Phe	p.C74F	ENST00000362032	NM_033050.4	74	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS3162.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGCACCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF14,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01157	.	.	ENSP00000355156	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000362032	Transcript	.	.	ENSG00000198829	4542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	SUCR1_HUMAN	SUCNR1	HGNC	.	.	UPI0000072507	SNV	SUCNR1,missense_variant,p.Cys74Phe,ENST00000362032,;RP11-454C18.2,intron_variant,,ENST00000475855,;RP11-454C18.2,intron_variant,,ENST00000483843,;	326	130	148	SUCCESS
PIK3CA	5290	.	GRCh37	3	178916692	178916692	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	34	69	0	ENST00000263967.3:c.79C>A	p.Pro27Thr	p.P27T	ENST00000263967	NM_006218.2	27	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS43171.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTACCAAAT	NONE	.	.	PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:3.10.20.90	.	.	ENSP00000263967	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Pro27Thr,ENST00000468036,;PIK3CA,missense_variant,p.Pro27Thr,ENST00000263967,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	236	69	71	SUCCESS
SATB1	6304	.	GRCh37	3	18456693	18456693	+	synonymous_variant	Silent	SNP	T	T	C	rs61733671	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	93	0	ENST00000338745.6:c.549A>G	p.Gln183=	p.Q183=	ENST00000338745	NM_002971.4	183	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS56242.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCATTGTTC	NONE	.	.	hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14	.	.	ENSP00000399518	.	5/12	.	.	.	.	.	.	.	.	rs61733671	5/12	PASS	ENST00000417717	Transcript	.	.	ENSG00000182568	10541	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SATB1_HUMAN	SATB1	HGNC	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN	.	UPI0000E1FB67	SNV	SATB1,synonymous_variant,p.%3D,ENST00000440737,;SATB1,synonymous_variant,p.%3D,ENST00000454909,;SATB1,synonymous_variant,p.%3D,ENST00000338745,;SATB1,synonymous_variant,p.%3D,ENST00000417717,;SATB1,downstream_gene_variant,,ENST00000415069,;SATB1,downstream_gene_variant,,ENST00000457005,;SATB1,downstream_gene_variant,,ENST00000493952,;SATB1,downstream_gene_variant,,ENST00000414509,;SATB1,downstream_gene_variant,,ENST00000452260,;SATB1,non_coding_transcript_exon_variant,,ENST00000475083,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000491519,;SATB1,non_coding_transcript_exon_variant,,ENST00000482788,;	1520	93	90	SUCCESS
MB21D2	151963	.	GRCh37	3	192517134	192517134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	51	0	ENST00000392452.2:c.517G>T	p.Gly173Cys	p.G173C	ENST00000392452	NM_178496.3	173	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS3302.2	517	RADIA|VARSCANS	.	GGCACCATTGA	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF43	.	.	ENSP00000376246	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392452	Transcript	.	.	ENSG00000180611	30438	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.84)	.	deleterious(0.01)	.	M21D2_HUMAN	MB21D2	HGNC	A8K332_HUMAN	.	UPI000013FAFE	SNV	MB21D2,missense_variant,p.Gly173Cys,ENST00000392452,;	838	51	42	SUCCESS
CCDC13	152206	.	GRCh37	3	42750572	42750572	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750710030	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	52	0	ENST00000310232.6:c.2048G>T	p.Arg683Leu	p.R683L	ENST00000310232	NM_144719.3	683	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2705.1	2048	RADIA|VARSCANS	.	TTCCCCGCAGG	NONE	byFrequency	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	16/16	.	.	.	.	.	.	.	.	rs750710030	16/16	oxog	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.677)	.	deleterious(0.01)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Arg683Leu,ENST00000310232,;HHATL-AS1,downstream_gene_variant,,ENST00000423165,;HHATL-AS1,downstream_gene_variant,,ENST00000600839,;CCDC13,intron_variant,,ENST00000496027,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000472921,;CCDC13,downstream_gene_variant,,ENST00000466031,;	2132	52	28	SUCCESS
SEMA3F	6405	.	GRCh37	3	50211496	50211496	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	25	0	ENST00000002829.3:c.285A>G	p.Ala95=	p.A95=	ENST00000002829	NM_004186.3	95	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS2811.1	285	RADIA|VARSCANS	.	TGGGCAGCCTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF27,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000002829	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000002829	Transcript	.	.	ENSG00000001617	10728	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEM3F_HUMAN	SEMA3F	HGNC	.	.	UPI0000135A69	SNV	SEMA3F,synonymous_variant,p.%3D,ENST00000413852,;SEMA3F,synonymous_variant,p.%3D,ENST00000414301,;SEMA3F,synonymous_variant,p.%3D,ENST00000434342,;SEMA3F,synonymous_variant,p.%3D,ENST00000002829,;SEMA3F,synonymous_variant,p.%3D,ENST00000420831,;SEMA3F,synonymous_variant,p.%3D,ENST00000450338,;SEMA3F,downstream_gene_variant,,ENST00000426511,;MIR566,downstream_gene_variant,,ENST00000385187,;	769	25	27	SUCCESS
PCBP4	57060	.	GRCh37	3	51993962	51993962	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	22	0	ENST00000322099.7:c.465G>A	p.Val155=	p.V155=	ENST00000322099	NM_033010.2	155	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2839.1	465	RADIA|VARSCANS	.	TCAGGCACCCC	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Pfam_domain:PF00013,Gene3D:3.30.1370.10,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF135,PROSITE_profiles:PS50084	.	.	ENSP00000417196	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000461554	Transcript	.	.	ENSG00000090097	8652	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCBP4_HUMAN	PCBP4	HGNC	C9K0A2_HUMAN,C9JZY3_HUMAN,C9JTY5_HUMAN,C9JSA6_HUMAN,C9J5V4_HUMAN,C9IZV9_HUMAN	.	UPI00001313CB	SNV	PCBP4,synonymous_variant,p.%3D,ENST00000322099,;PCBP4,synonymous_variant,p.%3D,ENST00000468324,;PCBP4,synonymous_variant,p.%3D,ENST00000395014,;PCBP4,synonymous_variant,p.%3D,ENST00000461554,;PCBP4,synonymous_variant,p.%3D,ENST00000471622,;PCBP4,synonymous_variant,p.%3D,ENST00000355852,;PCBP4,intron_variant,,ENST00000484633,;PCBP4,intron_variant,,ENST00000395013,;PCBP4,intron_variant,,ENST00000428823,;PCBP4,downstream_gene_variant,,ENST00000466412,;PCBP4,downstream_gene_variant,,ENST00000483411,;PCBP4,downstream_gene_variant,,ENST00000490063,;PCBP4,downstream_gene_variant,,ENST00000461544,;PCBP4,downstream_gene_variant,,ENST00000497653,;RP11-155D18.14,downstream_gene_variant,,ENST00000489595,;GPR62,downstream_gene_variant,,ENST00000322241,;RP11-155D18.12,downstream_gene_variant,,ENST00000488257,;PCBP4,non_coding_transcript_exon_variant,,ENST00000498822,;PCBP4,non_coding_transcript_exon_variant,,ENST00000492809,;PCBP4,non_coding_transcript_exon_variant,,ENST00000497390,;PCBP4,intron_variant,,ENST00000471308,;PCBP4,downstream_gene_variant,,ENST00000471358,;	797	22	16	SUCCESS
NISCH	11188	.	GRCh37	3	52513791	52513791	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	65	0	ENST00000345716.4:c.1329A>G	p.Thr443=	p.T443=	ENST00000345716	NM_007184.3	443	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS33767.1	1329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACAGAGAA	NONE	.	.	hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454	.	.	ENSP00000339958	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000345716	Transcript	.	.	ENSG00000010322	18006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NISCH_HUMAN	NISCH	HGNC	.	.	UPI000036715D	SNV	NISCH,synonymous_variant,p.%3D,ENST00000345716,;NISCH,synonymous_variant,p.%3D,ENST00000488380,;NISCH,synonymous_variant,p.%3D,ENST00000479054,;NISCH,synonymous_variant,p.%3D,ENST00000420808,;NISCH,downstream_gene_variant,,ENST00000464280,;NISCH,downstream_gene_variant,,ENST00000490425,;NISCH,non_coding_transcript_exon_variant,,ENST00000474188,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;NISCH,upstream_gene_variant,,ENST00000460759,;NISCH,downstream_gene_variant,,ENST00000481211,;NISCH,upstream_gene_variant,,ENST00000485765,;	1463	65	81	SUCCESS
PTPRG	5793	.	GRCh37	3	61975392	61975392	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs916309143	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	36	73	0	ENST00000474889.1:c.284T>C	p.Val95Ala	p.V95A	ENST00000474889	NM_002841.3	95	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2895.1	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTTGGGG	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR19134:SF189,hmmpanther:PTHR19134,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000418112	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000474889	Transcript	.	.	ENSG00000144724	9671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.357)	.	deleterious(0.02)	.	PTPRG_HUMAN	PTPRG	HGNC	O60420_HUMAN	.	UPI00001AEBFB	SNV	PTPRG,missense_variant,p.Val95Ala,ENST00000295874,;PTPRG,missense_variant,p.Val95Ala,ENST00000474889,;	661	73	74	SUCCESS
SHROOM3	57619	.	GRCh37	4	77357245	77357245	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs879246777	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	95	0	ENST00000296043.6:c.40A>G	p.Thr14Ala	p.T14A	ENST00000296043	NM_020859.3	14	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3579.2	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCACATTA	NONE	.	.	.	.	.	ENSP00000296043	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.11)	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,missense_variant,p.Thr14Ala,ENST00000296043,;SHROOM3,upstream_gene_variant,,ENST00000497440,;SHROOM3,upstream_gene_variant,,ENST00000466541,;	993	95	77	SUCCESS
GABRB2	2561	.	GRCh37	5	160972296	160972296	+	synonymous_variant	Silent	SNP	G	G	A	rs1385011173	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	47	0	ENST00000274547.2:c.174C>T	p.Pro58=	p.P58=	ENST00000274547	NM_000813.2	58	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4355.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGGGGACC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000274547	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000274547	Transcript	.	.	ENSG00000145864	4082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRB2_HUMAN	GABRB2	HGNC	D1M715_HUMAN	.	UPI000002AA29	SNV	GABRB2,synonymous_variant,p.%3D,ENST00000520240,;GABRB2,synonymous_variant,p.%3D,ENST00000353437,;GABRB2,synonymous_variant,p.%3D,ENST00000274547,;GABRB2,synonymous_variant,p.%3D,ENST00000393959,;GABRB2,5_prime_UTR_variant,,ENST00000517547,;GABRB2,5_prime_UTR_variant,,ENST00000517901,;GABRA6,upstream_gene_variant,,ENST00000522269,;GABRB2,downstream_gene_variant,,ENST00000523730,;GABRB2,non_coding_transcript_exon_variant,,ENST00000522758,;	392	47	53	SUCCESS
DDX41	51428	.	GRCh37	5	176939387	176939387	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	35	0	ENST00000507955.1:c.1557G>T	p.Arg519=	p.R519=	ENST00000507955	NM_016222.2	519	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4427.1	1557	RADIA|VARSCANS	.	CCAATCCGGTG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Pfam_domain:PF00271,Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,PROSITE_profiles:PS51194	.	.	ENSP00000422753	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000507955	Transcript	.	.	ENSG00000183258	18674	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX41_HUMAN	DDX41	HGNC	B3KRK2_HUMAN	.	UPI0000125164	SNV	DDX41,synonymous_variant,p.%3D,ENST00000330503,;DDX41,synonymous_variant,p.%3D,ENST00000507955,;DOK3,upstream_gene_variant,,ENST00000312943,;DOK3,upstream_gene_variant,,ENST00000502885,;DOK3,upstream_gene_variant,,ENST00000510898,;DOK3,upstream_gene_variant,,ENST00000510380,;DOK3,upstream_gene_variant,,ENST00000510389,;DOK3,upstream_gene_variant,,ENST00000377112,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000506493,;DOK3,upstream_gene_variant,,ENST00000501403,;DOK3,upstream_gene_variant,,ENST00000357198,;DDX41,downstream_gene_variant,,ENST00000506965,;DDX41,non_coding_transcript_exon_variant,,ENST00000507900,;DDX41,non_coding_transcript_exon_variant,,ENST00000512334,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DOK3,upstream_gene_variant,,ENST00000500323,;DDX41,downstream_gene_variant,,ENST00000512027,;DDX41,downstream_gene_variant,,ENST00000508279,;DDX41,downstream_gene_variant,,ENST00000509576,;DOK3,upstream_gene_variant,,ENST00000512660,;DDX41,downstream_gene_variant,,ENST00000511040,;DDX41,downstream_gene_variant,,ENST00000504807,;DDX41,downstream_gene_variant,,ENST00000512431,;DDX41,downstream_gene_variant,,ENST00000513562,;DDX41,downstream_gene_variant,,ENST00000510171,;DOK3,upstream_gene_variant,,ENST00000502380,;DDX41,downstream_gene_variant,,ENST00000504781,;DDX41,downstream_gene_variant,,ENST00000515562,;	2081	35	23	SUCCESS
SDHA	6389	.	GRCh37	5	240575	240575	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs192818312	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	59	156	0	ENST00000264932.6:c.1535G>T	p.Arg512Leu	p.R512L	ENST00000264932	NM_004168.2	512	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3853.1	1535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGACTCA	NONE	by1000G	.	hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF37,TIGRFAM_domain:TIGR01816,TIGRFAM_domain:TIGR01812,Pfam_domain:PF02910,Gene3D:1.20.58.100,Superfamily_domains:SSF46977	.	.	ENSP00000264932	.	11/15	.	.	.	.	.	.	.	.	rs192818312	11/15	PASS	ENST00000264932	Transcript	1	.	ENSG00000073578	10680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	DHSA_HUMAN	SDHA	HGNC	Q0QF12_HUMAN,B3KT34_HUMAN	.	UPI0000000C2C	SNV	SDHA,missense_variant,p.Arg64Leu,ENST00000515815,;SDHA,missense_variant,p.Arg512Leu,ENST00000264932,;SDHA,missense_variant,p.Arg512Leu,ENST00000504309,;SDHA,missense_variant,p.Arg464Leu,ENST00000510361,;SDHA,non_coding_transcript_exon_variant,,ENST00000509082,;SDHA,non_coding_transcript_exon_variant,,ENST00000514027,;SDHA,non_coding_transcript_exon_variant,,ENST00000511810,;SDHA,non_coding_transcript_exon_variant,,ENST00000505555,;SDHA,non_coding_transcript_exon_variant,,ENST00000515752,;SDHA,downstream_gene_variant,,ENST00000512962,;SDHA,downstream_gene_variant,,ENST00000504824,;	1650	156	140	SUCCESS
TNPO1	3842	.	GRCh37	5	72189531	72189532	+	splice_donor_variant	Splice_Site	INS	-	-	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	62	0	ENST00000337273.5:c.2143+2dup		p.X715_splice	ENST00000337273	NM_002270.3	715		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43329.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATAGGTATGA	NONE	.	.	.	.	.	ENSP00000336712	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337273	Transcript	.	.	ENSG00000083312	6401	1	.	HIGH	18/24	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	insertion	TNPO1,splice_donor_variant,,ENST00000523768,;TNPO1,splice_donor_variant,,ENST00000506351,;TNPO1,splice_donor_variant,,ENST00000337273,;TNPO1,splice_donor_variant,,ENST00000454282,;TNPO1,splice_donor_variant,,ENST00000605210,;	.	62	78	SUCCESS
ADTRP	84830	.	GRCh37	6	11717539	11717539	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	35	0	ENST00000414691.3:c.659-2794G>A		p.*220*	ENST00000414691	NM_032744.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47374.1	.	RADIA|VARSCANS	.	TATTTCACCTG	NONE	.	.	.	.	.	ENSP00000229583	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000229583	Transcript	.	.	ENSG00000111863	21214	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADTRP_HUMAN	ADTRP	HGNC	.	.	UPI00017A7DC7	SNV	ADTRP,stop_retained_variant,p.%3D,ENST00000503285,;ADTRP,stop_retained_variant,p.%3D,ENST00000379413,;ADTRP,intron_variant,,ENST00000414691,;ADTRP,intron_variant,,ENST00000229583,;ADTRP,splice_region_variant,,ENST00000514824,;ADTRP,intron_variant,,ENST00000512139,;ADTRP,intron_variant,,ENST00000513651,;ADTRP,intron_variant,,ENST00000505099,;	.	35	49	SUCCESS
TULP4	56995	.	GRCh37	6	158923495	158923495	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	35	1	ENST00000367097.3:c.2800G>T	p.Val934Phe	p.V934F	ENST00000367097	NM_020245.4	934	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS34561.1	2800	SOMATICSNIPER|VARSCANS	.	AGAAGGTCCCT	NONE	.	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2	.	.	ENSP00000356064	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000367097	Transcript	.	.	ENSG00000130338	15530	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.157)	.	deleterious_low_confidence(0)	.	TULP4_HUMAN	TULP4	HGNC	.	.	UPI000013CD76	SNV	TULP4,missense_variant,p.Val934Phe,ENST00000367097,;TULP4,intron_variant,,ENST00000367094,;	4157	36	30	SUCCESS
CAP2	10486	.	GRCh37	6	17463259	17463259	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	33	44	0	ENST00000229922.2:c.255G>A	p.Gln85=	p.Q85=	ENST00000229922	NM_006366.2	85	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS4539.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGCGGGC	NONE	.	.	hmmpanther:PTHR10652,hmmpanther:PTHR10652:SF2,Pfam_domain:PF01213,Superfamily_domains:0043456	.	.	ENSP00000229922	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000229922	Transcript	.	.	ENSG00000112186	20039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAP2_HUMAN	CAP2	HGNC	.	.	UPI0000126EC6	SNV	CAP2,synonymous_variant,p.%3D,ENST00000465994,;CAP2,synonymous_variant,p.%3D,ENST00000489374,;CAP2,synonymous_variant,p.%3D,ENST00000229922,;CAP2,intron_variant,,ENST00000378990,;CAP2,intron_variant,,ENST00000493172,;CAP2,synonymous_variant,p.%3D,ENST00000476263,;CAP2,intron_variant,,ENST00000479291,;	787	44	57	SUCCESS
DAXX	1616	.	GRCh37	6	33289726	33289726	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	20	0	ENST00000374542.5:c.-24T>C		p.*8*	ENST00000374542	NM_001141970.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4776.1	.	RADIA|VARSCANS	.	GAGGGAGGAAG	NONE	.	.	.	.	.	ENSP00000363668	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000374542	Transcript	.	.	ENSG00000204209	2681	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAXX_HUMAN	DAXX	HGNC	Q5STR5_HUMAN,Q4VX54_HUMAN,A2AB94_HUMAN	.	UPI0000128ED8	SNV	DAXX,5_prime_UTR_variant,,ENST00000374542,;DAXX,5_prime_UTR_variant,,ENST00000453407,;DAXX,5_prime_UTR_variant,,ENST00000446403,;DAXX,5_prime_UTR_variant,,ENST00000266000,;DAXX,5_prime_UTR_variant,,ENST00000446511,;DAXX,intron_variant,,ENST00000414083,;ZBTB22,upstream_gene_variant,,ENST00000431845,;ZBTB22,upstream_gene_variant,,ENST00000418724,;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,intron_variant,,ENST00000468536,;DAXX,intron_variant,,ENST00000477370,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,upstream_gene_variant,,ENST00000477162,;DAXX,non_coding_transcript_exon_variant,,ENST00000498030,;DAXX,upstream_gene_variant,,ENST00000490173,;	182	20	35	SUCCESS
DEF6	50619	.	GRCh37	6	35289121	35289121	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	36	0	ENST00000316637.5:c.1830G>T	p.Gly610=	p.G610=	ENST00000316637	NM_022047.3	610	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4802.1	1830	RADIA|VARSCANS	.	GGTGGGGATGA	NONE	.	.	hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2	.	.	ENSP00000319831	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000316637	Transcript	.	.	ENSG00000023892	2760	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEFI6_HUMAN	DEF6	HGNC	.	.	UPI000006E74E	SNV	DEF6,synonymous_variant,p.%3D,ENST00000316637,;DEF6,synonymous_variant,p.%3D,ENST00000542066,;DEF6,downstream_gene_variant,,ENST00000468102,;	1835	36	25	SUCCESS
DNPH1	10591	.	GRCh37	6	43193533	43193533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	33	0	ENST00000230431.6:c.463G>T	p.Asp155Tyr	p.D155Y	ENST00000230431	NM_006443.2	155	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS4891.1	463	RADIA|VARSCANS	.	TCGATCCAGCA	NONE	.	.	HAMAP:MF_03036,hmmpanther:PTHR15364	.	.	ENSP00000230431	.	4/4	.	.	.	.	.	.	.	.	.	4/4	oxog	ENST00000230431	Transcript	.	.	ENSG00000112667	21218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.473)	.	deleterious(0)	.	DNPH1_HUMAN	DNPH1	HGNC	.	.	UPI0000072046	SNV	DNPH1,missense_variant,p.Asp224Tyr,ENST00000509253,;DNPH1,missense_variant,p.Asp155Tyr,ENST00000230431,;DNPH1,3_prime_UTR_variant,,ENST00000393987,;CUL9,downstream_gene_variant,,ENST00000354495,;CUL9,downstream_gene_variant,,ENST00000372647,;CUL9,downstream_gene_variant,,ENST00000252050,;RP3-330M21.5,upstream_gene_variant,,ENST00000500590,;CUL9,downstream_gene_variant,,ENST00000506830,;CUL9,downstream_gene_variant,,ENST00000512423,;DNPH1,downstream_gene_variant,,ENST00000505042,;CUL9,downstream_gene_variant,,ENST00000515773,;CUL9,downstream_gene_variant,,ENST00000504647,;CUL9,downstream_gene_variant,,ENST00000505405,;CUL9,downstream_gene_variant,,ENST00000503766,;	491	33	23	SUCCESS
SND1	27044	.	GRCh37	7	127292418	127292418	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	62	142	0	ENST00000354725.3:c.-10A>G		p.*4*	ENST00000354725	NM_014390.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCATCTCC	NONE	.	.	.	.	.	ENSP00000346762	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,5_prime_UTR_variant,,ENST00000354725,;AC073934.6,upstream_gene_variant,,ENST00000490314,;SND1,non_coding_transcript_exon_variant,,ENST00000463020,;	185	142	137	SUCCESS
DPP6	1804	.	GRCh37	7	154379847	154379847	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	26	0	ENST00000377770.3:c.628-49684A>G		p.*210*	ENST00000377770				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	TGGAGAGAGAC	NONE	.	.	.	.	.	ENSP00000367001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODIFIER	5/25	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,3_prime_UTR_variant,,ENST00000406326,;DPP6,intron_variant,,ENST00000427557,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000332007,;DPP6,intron_variant,,ENST00000404039,;DPP6,downstream_gene_variant,,ENST00000496611,;	.	26	29	SUCCESS
TMED4	222068	.	GRCh37	7	44621075	44621075	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	22	0	ENST00000457408.2:c.360G>A	p.Arg120=	p.R120=	ENST00000457408	NM_182547.2	120	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5493.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCCATCCTGGT	NONE	.	.	PROSITE_profiles:PS50866,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF38,Pfam_domain:PF01105	.	.	ENSP00000404042	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000457408	Transcript	.	.	ENSG00000158604	22301	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMED4_HUMAN	TMED4	HGNC	.	.	UPI000003ED37	SNV	TMED4,synonymous_variant,p.%3D,ENST00000289577,;TMED4,synonymous_variant,p.%3D,ENST00000457408,;TMED4,synonymous_variant,p.%3D,ENST00000481238,;TMED4,non_coding_transcript_exon_variant,,ENST00000444131,;TMED4,non_coding_transcript_exon_variant,,ENST00000477639,;	413	22	16	SUCCESS
MAGI2	9863	.	GRCh37	7	77649287	77649287	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	24	0	ENST00000354212.4:c.3713C>A	p.Pro1238His	p.P1238H	ENST00000354212	NM_012301.3	1238	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS5594.1	3713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGGTTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316	.	.	ENSP00000346151	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	tolerated(0.09)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Pro1238His,ENST00000354212,;MAGI2,missense_variant,p.Pro1224His,ENST00000419488,;MAGI2,missense_variant,p.Pro1268Thr,ENST00000522391,;	3967	24	16	SUCCESS
ZNF804B	219578	.	GRCh37	7	88963115	88963115	+	synonymous_variant	Silent	SNP	A	A	G	rs1332337743	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	42	107	0	ENST00000333190.4:c.819A>G	p.Thr273=	p.T273=	ENST00000333190	NM_181646.2	273	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS5613.1	819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACACACCT	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,synonymous_variant,p.%3D,ENST00000333190,;	1428	107	94	SUCCESS
CYP3A5	1577	.	GRCh37	7	99247719	99247721	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	93	71	168	0	ENST00000222982.4:c.1388_1390del	p.Ser463del	p.S463del	ENST00000222982	NM_000777.3	463	tCCTtc/ttc	0	.	.	.	.	.	-	SF/F	protein_coding	YES	CCDS5672.1	1388-1390	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTGAAGGAGAAG	NONE	.	.	Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24302:SF3,hmmpanther:PTHR24302	.	.	ENSP00000222982	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	deletion	CYP3A5,inframe_deletion,p.Ser463del,ENST00000222982,;CYP3A5,inframe_deletion,p.Ser453del,ENST00000343703,;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,downstream_gene_variant,,ENST00000488187,;	1488-1490	168	164	SUCCESS
KIAA0196	0	.	GRCh37	8	126071769	126071769	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	21	0	ENST00000318410.7:c.1537C>A	p.Gln513Lys	p.Q513K	ENST00000318410	NM_014846.3	513	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS6355.1	1537	RADIA|VARSCANS	.	CAACTGGTGGA	NONE	.	.	hmmpanther:PTHR15691,Pfam_domain:PF10266	.	.	ENSP00000318016	.	13/29	.	.	.	.	.	.	.	.	.	13/29	oxog	ENST00000318410	Transcript	1	.	ENSG00000164961	28984	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.826)	.	deleterious(0.03)	.	STRUM_HUMAN	KIAA0196	HGNC	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN	.	UPI000013943B	SNV	KIAA0196,missense_variant,p.Gln365Lys,ENST00000517845,;KIAA0196,missense_variant,p.Gln513Lys,ENST00000318410,;	1887	21	30	SUCCESS
COL22A1	169044	.	GRCh37	8	139736874	139736874	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1194439406	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	14	0	ENST00000303045.6:c.2231G>A	p.Gly744Glu	p.G744E	ENST00000303045	NM_152888.1	744	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS6376.1	2231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCCAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	25/65	.	.	.	.	.	.	.	.	.	25/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Gly744Glu,ENST00000303045,;COL22A1,missense_variant,p.Gly744Glu,ENST00000435777,;COL22A1,upstream_gene_variant,,ENST00000341807,;	2678	14	20	SUCCESS
PPP2CB	5516	.	GRCh37	8	30643819	30643819	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	32	0	ENST00000221138.4:c.862C>T	p.Gln288Ter	p.Q288*	ENST00000221138	NM_001009552.1	288	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6079.1	862	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGAAGGC	NONE	.	.	hmmpanther:PTHR11668:SF216,hmmpanther:PTHR11668,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300	.	.	ENSP00000221138	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000221138	Transcript	.	.	ENSG00000104695	9300	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PP2AB_HUMAN	PPP2CB	HGNC	E5RJX4_HUMAN,E5RFI3_HUMAN	.	UPI0000000CC2	SNV	PPP2CB,stop_gained,p.Gln288Ter,ENST00000221138,;PPP2CB,intron_variant,,ENST00000518564,;PPP2CB,downstream_gene_variant,,ENST00000520334,;PPP2CB,non_coding_transcript_exon_variant,,ENST00000522113,;PPP2CB,stop_gained,p.Gln31Ter,ENST00000523023,;PPP2CB,non_coding_transcript_exon_variant,,ENST00000518532,;	1313	32	30	SUCCESS
KCNU1	157855	.	GRCh37	8	36776402	36776402	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	37	0	ENST00000399881.3:c.2583C>A	p.Ile861=	p.I861=	ENST00000399881	NM_001031836.2	861	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS55220.1	2583	RADIA|VARSCANS	.	CCTATCCTTAC	NONE	.	.	Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,synonymous_variant,p.%3D,ENST00000399881,;KCNU1,synonymous_variant,p.%3D,ENST00000522372,;	2620	37	39	SUCCESS
POLB	5423	.	GRCh37	8	42227402	42227402	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	16	0	ENST00000265421.4:c.809T>C	p.Leu270Pro	p.L270P	ENST00000265421	NM_002690.2	270	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS6129.1	809	RADIA|VARSCANS	.	TGTTCTCTATT	NONE	.	.	hmmpanther:PTHR11276,Gene3D:3.30.460.10,Pfam_domain:PF14791,SMART_domains:SM00483,Superfamily_domains:SSF81301,Prints_domain:PR00869,Prints_domain:PR00870	.	.	ENSP00000265421	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000265421	Transcript	.	.	ENSG00000070501	9174	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPOLB_HUMAN	POLB	HGNC	Q6LBJ9_HUMAN,E5RJ55_HUMAN,E5RHZ4_HUMAN,B7Z1W5_HUMAN	.	UPI000013D61E	SNV	POLB,missense_variant,p.Leu128Pro,ENST00000518579,;POLB,missense_variant,p.Leu116Pro,ENST00000538005,;POLB,missense_variant,p.Leu172Pro,ENST00000521290,;POLB,missense_variant,p.Leu270Pro,ENST00000265421,;POLB,5_prime_UTR_variant,,ENST00000521492,;POLB,intron_variant,,ENST00000517393,;POLB,downstream_gene_variant,,ENST00000518925,;DKK4,downstream_gene_variant,,ENST00000220812,;POLB,3_prime_UTR_variant,,ENST00000524208,;POLB,3_prime_UTR_variant,,ENST00000522610,;POLB,non_coding_transcript_exon_variant,,ENST00000521418,;POLB,downstream_gene_variant,,ENST00000519771,;	979	16	29	SUCCESS
COL15A1	1306	.	GRCh37	9	101778304	101778304	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	29	32	0	ENST00000375001.3:c.1550C>T	p.Pro517Leu	p.P517L	ENST00000375001	NM_001855.4	517	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS35081.1	1550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCCCTCA	NONE	.	.	hmmpanther:PTHR24023:SF398,hmmpanther:PTHR24023	.	.	ENSP00000364140	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.07)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Pro517Leu,ENST00000375001,;	1973	32	51	SUCCESS
KIAA1958	158405	.	GRCh37	9	115337283	115337283	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	38	0	ENST00000337530.6:c.923T>C	p.Met308Thr	p.M308T	ENST00000337530	NM_001287038.1	308	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS35108.1	923	RADIA|VARSCANS	.	GGCCATGCAAA	NONE	.	.	hmmpanther:PTHR11697:SF98,hmmpanther:PTHR11697	.	.	ENSP00000336940	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000337530	Transcript	.	.	ENSG00000165185	23427	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.01)	.	K1958_HUMAN	KIAA1958	HGNC	.	.	UPI000007327E	SNV	KIAA1958,missense_variant,p.Met308Thr,ENST00000536272,;KIAA1958,missense_variant,p.Met308Thr,ENST00000374244,;KIAA1958,missense_variant,p.Met308Thr,ENST00000337530,;	1219	38	25	SUCCESS
ZNF79	7633	.	GRCh37	9	130206447	130206447	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	25	0	ENST00000342483.5:c.468C>G	p.Val156=	p.V156=	ENST00000342483	NM_007135.2	156	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6871.1	468	RADIA|MUTECT|VARSCANS	.	CCAGTCCTCTC	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24387:SF197,hmmpanther:PTHR24387	.	.	ENSP00000362446	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000342483	Transcript	.	.	ENSG00000196152	13153	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF79_HUMAN	ZNF79	HGNC	F5H032_HUMAN	.	UPI0000367683	SNV	ZNF79,synonymous_variant,p.%3D,ENST00000342483,;ZNF79,synonymous_variant,p.%3D,ENST00000543471,;RPL12,downstream_gene_variant,,ENST00000536368,;RPL12,downstream_gene_variant,,ENST00000361436,;SNORA65,downstream_gene_variant,,ENST00000364432,;RPL12,downstream_gene_variant,,ENST00000483598,;RPL12,downstream_gene_variant,,ENST00000497825,;RPL12,downstream_gene_variant,,ENST00000497322,;	874	25	39	SUCCESS
ARHGEF39	84904	.	GRCh37	9	35662720	35662720	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	50	0	ENST00000378387.3:c.692A>T	p.Gln231Leu	p.Q231L	ENST00000378387	NM_032818.2	231	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6584.2	692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTGGCGT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF103,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000367638	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000378387	Transcript	.	.	ENSG00000137135	25909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.02)	.	ARG39_HUMAN	ARHGEF39	HGNC	.	.	UPI000006FAA2	SNV	ARHGEF39,missense_variant,p.Gln231Leu,ENST00000378387,;ARHGEF39,missense_variant,p.Gln195Leu,ENST00000378395,;ARHGEF39,intron_variant,,ENST00000343259,;CCDC107,downstream_gene_variant,,ENST00000378407,;CCDC107,downstream_gene_variant,,ENST00000378409,;CCDC107,downstream_gene_variant,,ENST00000421582,;CCDC107,downstream_gene_variant,,ENST00000426546,;CCDC107,downstream_gene_variant,,ENST00000378406,;CCDC107,downstream_gene_variant,,ENST00000327351,;RMRP,upstream_gene_variant,,ENST00000602361,;RMRP,upstream_gene_variant,,ENST00000363046,;ARHGEF39,non_coding_transcript_exon_variant,,ENST00000490970,;ARHGEF39,downstream_gene_variant,,ENST00000468876,;ARHGEF39,upstream_gene_variant,,ENST00000488918,;ARHGEF39,missense_variant,p.Gln195Leu,ENST00000490638,;ARHGEF39,intron_variant,,ENST00000475323,;	810	50	78	SUCCESS
LONRF3	79836	.	GRCh37	X	118148215	118148215	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	51	74	0	ENST00000371628.3:c.2020G>A	p.Val674Ile	p.V674I	ENST00000371628	NM_001031855.1	674	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS35374.1	2020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTGTCTAT	NONE	.	.	hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF7,Pfam_domain:PF02190,SMART_domains:SM00464,Superfamily_domains:SSF88697	.	.	ENSP00000360690	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000371628	Transcript	.	.	ENSG00000175556	21152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LONF3_HUMAN	LONRF3	HGNC	.	.	UPI0000211E03	SNV	LONRF3,missense_variant,p.Val633Ile,ENST00000304778,;LONRF3,missense_variant,p.Val418Ile,ENST00000422289,;LONRF3,missense_variant,p.Val440Ile,ENST00000439603,;LONRF3,missense_variant,p.Val674Ile,ENST00000371628,;LONRF3,non_coding_transcript_exon_variant,,ENST00000472173,;LONRF3,3_prime_UTR_variant,,ENST00000481285,;	2051	75	109	SUCCESS
MIR888	100126306	.	GRCh37	X	145076315	145076315	+	mature_miRNA_variant	RNA	SNP	A	A	C	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	71	0	ENST00000401186.1:n.64T>G		p.*22*	ENST00000401186				0	.	.	.	.	.	C	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCACCCAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000401186	Transcript	.	.	ENSG00000216005	33648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR888	HGNC	.	.	.	SNV	MIR888,non_coding_transcript_exon_variant,,ENST00000401186,;MIR892A,downstream_gene_variant,,ENST00000401124,;AL445258.1,upstream_gene_variant,,ENST00000401213,;MIR890,upstream_gene_variant,,ENST00000401256,;MIR892B,downstream_gene_variant,,ENST00000401279,;hsa-mir-892c,upstream_gene_variant,,ENST00000516410,;	64	72	51	SUCCESS
SYTL5	94122	.	GRCh37	X	37893261	37893261	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	56	0	ENST00000297875.2:c.119G>T	p.Arg40Met	p.R40M	ENST00000297875	NM_001163335.1	40	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS55399.1	119	RADIA|VARSCANS	.	AATAAGGTAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57903,Gene3D:3.30.40.10,Pfam_domain:PF02318,hmmpanther:PTHR10024:SF13,hmmpanther:PTHR10024,PROSITE_profiles:PS50916	.	.	ENSP00000395220	.	1/17	.	.	.	.	.	.	.	.	.	1/17	oxog	ENST00000456733	Transcript	.	.	ENSG00000147041	15589	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	SYTL5_HUMAN	SYTL5	HGNC	.	.	UPI0000F0599F	SNV	SYTL5,missense_variant,p.Arg40Met,ENST00000357972,;SYTL5,missense_variant,p.Arg40Met,ENST00000297875,;SYTL5,missense_variant,p.Arg40Met,ENST00000456733,;TM4SF2,intron_variant,,ENST00000465127,;	475	56	36	SUCCESS
MAOB	4129	.	GRCh37	X	43640727	43640727	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	46	0	ENST00000378069.4:c.993C>A	p.Thr331=	p.T331=	ENST00000378069	NM_000898.4	331	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS14261.1	993	RADIA|VARSCANS	.	GGTTTGGTATC	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF54373	.	.	ENSP00000367309	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000378069	Transcript	.	.	ENSG00000069535	6834	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AOFB_HUMAN	MAOB	HGNC	H0YCD8_HUMAN,B7Z242_HUMAN	.	UPI0000049071	SNV	MAOB,synonymous_variant,p.%3D,ENST00000538942,;MAOB,synonymous_variant,p.%3D,ENST00000536181,;MAOB,synonymous_variant,p.%3D,ENST00000378069,;	1141	46	37	SUCCESS
AMER1	139285	.	GRCh37	X	63410591	63410591	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	38	98	0	ENST00000330258.3:c.2576A>T	p.Tyr859Phe	p.Y859F	ENST00000330258	NM_152424.3	859	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS14377.2	2576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTAGAAT	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	tolerated(1)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Tyr859Phe,ENST00000330258,;AMER1,intron_variant,,ENST00000374869,;AMER1,intron_variant,,ENST00000403336,;	2849	98	82	SUCCESS
TEX11	56159	.	GRCh37	X	70053381	70053383	+	inframe_deletion	In_Frame_Del	DEL	CAA	CAA	-	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	CAA	CAA	.	.	.	.	.	.	.	.	.	.	.	.	.	92	66	151	0	ENST00000344304.3:c.631_633del	p.Leu211del	p.L211del	ENST00000344304		211	TTG/-	0	.	.	.	.	.	-	L/-	protein_coding	YES	CCDS35323.1	631-633	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCATCAACATAT	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631	.	.	ENSP00000379226	.	9/31	.	.	.	.	.	.	.	.	.	9/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	deletion	TEX11,inframe_deletion,p.Leu196del,ENST00000374333,;TEX11,inframe_deletion,p.Leu211del,ENST00000395889,;TEX11,inframe_deletion,p.Leu211del,ENST00000344304,;	787-789	151	158	SUCCESS
TNMD	64102	.	GRCh37	X	99854571	99854571	+	synonymous_variant	Silent	SNP	C	C	A	rs746574268	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	71	0	ENST00000373031.4:c.811C>A	p.Arg271=	p.R271=	ENST00000373031	NM_022144.2	271	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS14469.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTCGAGGC	NONE	byFrequency	.	hmmpanther:PTHR14064,hmmpanther:PTHR14064:SF3	.	.	ENSP00000362122	.	7/7	.	.	.	.	.	.	.	.	rs746574268,COSM1126618	7/7	PASS	ENST00000373031	Transcript	.	.	ENSG00000000005	17757	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TNMD_HUMAN	TNMD	HGNC	.	.	UPI0000001042	SNV	TNMD,synonymous_variant,p.%3D,ENST00000373031,;TNMD,downstream_gene_variant,,ENST00000485971,;	1028	71	44	SUCCESS
PPAPDC1A	0	.	GRCh37	10	122263112	122263112	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	13	90	0	ENST00000398250.1:c.57-218G>A		p.*19*	ENST00000398250	NM_001030059.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41573.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGGCAGG	NONE	.	.	.	.	.	ENSP00000381302	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398250	Transcript	.	.	ENSG00000203805	23531	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPC1A_HUMAN	PPAPDC1A	HGNC	.	.	UPI00001619F5	SNV	PPAPDC1A,missense_variant,p.Gly8Ser,ENST00000369073,;PPAPDC1A,intron_variant,,ENST00000541332,;PPAPDC1A,intron_variant,,ENST00000398248,;PPAPDC1A,intron_variant,,ENST00000398250,;PPAPDC1A,intron_variant,,ENST00000427079,;PPAPDC1A,intron_variant,,ENST00000439221,;	.	90	98	SUCCESS
TRPC6	7225	.	GRCh37	11	101353776	101353776	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	61	0	ENST00000344327.3:c.1414C>A	p.Pro472Thr	p.P472T	ENST00000344327	NM_004621.5	472	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8311.1	1414	RADIA|MUSE|VARSCANS	.	ATTAGGAAGGA	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870	.	.	ENSP00000340913	.	5/13	.	.	.	.	.	.	.	.	.	5/13	oxog	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,missense_variant,p.Pro472Thr,ENST00000532133,;TRPC6,missense_variant,p.Pro356Thr,ENST00000348423,;TRPC6,missense_variant,p.Pro472Thr,ENST00000344327,;TRPC6,missense_variant,p.Pro417Thr,ENST00000360497,;	1839	61	93	SUCCESS
DPAGT1	1798	.	GRCh37	11	118967763	118967763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	9	104	0	ENST00000354202.4:c.1172G>A	p.Ser391Asn	p.S391N	ENST00000354202	NM_001382.3	391	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS8411.1	1172	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACTGCCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10571:SF0,hmmpanther:PTHR10571	.	.	ENSP00000386597	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000409993	Transcript	.	.	ENSG00000172269	2995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.907)	.	deleterious(0.02)	.	GPT_HUMAN	DPAGT1	HGNC	.	.	UPI000012BA3F	SNV	DPAGT1,missense_variant,p.Ser391Asn,ENST00000409993,;DPAGT1,missense_variant,p.Ser391Asn,ENST00000354202,;DPAGT1,missense_variant,p.Ser310Asn,ENST00000432443,;H2AFX,upstream_gene_variant,,ENST00000530167,;HMBS,downstream_gene_variant,,ENST00000392841,;HMBS,downstream_gene_variant,,ENST00000542729,;HMBS,downstream_gene_variant,,ENST00000546302,;HMBS,downstream_gene_variant,,ENST00000442944,;HMBS,downstream_gene_variant,,ENST00000543090,;HMBS,downstream_gene_variant,,ENST00000278715,;HMBS,downstream_gene_variant,,ENST00000544387,;HMBS,downstream_gene_variant,,ENST00000537841,;DPAGT1,downstream_gene_variant,,ENST00000445653,;DPAGT1,3_prime_UTR_variant,,ENST00000442480,;DPAGT1,3_prime_UTR_variant,,ENST00000392834,;DPAGT1,3_prime_UTR_variant,,ENST00000414373,;DPAGT1,non_coding_transcript_exon_variant,,ENST00000481084,;DPAGT1,non_coding_transcript_exon_variant,,ENST00000461999,;HMBS,downstream_gene_variant,,ENST00000542345,;DPAGT1,downstream_gene_variant,,ENST00000525456,;DPAGT1,downstream_gene_variant,,ENST00000460183,;HMBS,downstream_gene_variant,,ENST00000543543,;DPAGT1,downstream_gene_variant,,ENST00000530052,;DPAGT1,downstream_gene_variant,,ENST00000524658,;HMBS,downstream_gene_variant,,ENST00000539045,;DPAGT1,downstream_gene_variant,,ENST00000472016,;HMBS,downstream_gene_variant,,ENST00000542044,;H2AFX,upstream_gene_variant,,ENST00000375167,;HMBS,downstream_gene_variant,,ENST00000546226,;HMBS,downstream_gene_variant,,ENST00000545621,;DPAGT1,downstream_gene_variant,,ENST00000533687,;HMBS,downstream_gene_variant,,ENST00000544182,;	2724	105	92	SUCCESS
DNAJC24	120526	.	GRCh37	11	31436406	31436406	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	55	0	ENST00000465995.1:c.160G>A	p.Glu54Lys	p.E54K	ENST00000465995	NM_181706.4	54	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7873.2	160	MUTECT|VARSCANS	.	TGGAGGAATGT	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF131,Pfam_domain:PF00226,Gene3D:1.10.287.110,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	.	.	ENSP00000417548	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000465995	Transcript	.	.	ENSG00000170946	26979	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.066)	.	tolerated(0.05)	.	DJC24_HUMAN	DNAJC24	HGNC	.	.	UPI0000160EAB	SNV	DNAJC24,missense_variant,p.Glu54Lys,ENST00000465995,;DNAJC24,missense_variant,p.Glu53Lys,ENST00000536040,;DNAJC24,upstream_gene_variant,,ENST00000530125,;DNAJC24,missense_variant,p.Glu54Lys,ENST00000526042,;DNAJC24,3_prime_UTR_variant,,ENST00000527731,;DNAJC24,3_prime_UTR_variant,,ENST00000525511,;DNAJC24,non_coding_transcript_exon_variant,,ENST00000529086,;	266	55	71	SUCCESS
DDB2	1643	.	GRCh37	11	47256456	47256456	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs773602928	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	74	0	ENST00000256996.4:c.851C>A	p.Ser284Ter	p.S284*	ENST00000256996	NM_000107.2	284	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS7927.1	851	RADIA|MUTECT|MUSE|VARSCANS	.	CTACTCGCTGC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR15169:SF0,hmmpanther:PTHR15169,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000256996	.	6/10	.	.	.	.	.	.	.	.	rs773602928	6/10	PASS	ENST00000256996	Transcript	.	.	ENSG00000134574	2718	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDB2_HUMAN	DDB2	HGNC	.	.	UPI000000D90C	SNV	DDB2,stop_gained,p.Ser220Ter,ENST00000378603,;DDB2,stop_gained,p.Ser284Ter,ENST00000256996,;DDB2,intron_variant,,ENST00000378601,;DDB2,intron_variant,,ENST00000378600,;ACP2,downstream_gene_variant,,ENST00000256997,;ACP2,downstream_gene_variant,,ENST00000529444,;ACP2,downstream_gene_variant,,ENST00000537863,;ACP2,downstream_gene_variant,,ENST00000527256,;ACP2,downstream_gene_variant,,ENST00000534752,;ACP2,downstream_gene_variant,,ENST00000531004,;ACP2,downstream_gene_variant,,ENST00000534448,;	1046	74	54	SUCCESS
OR4A5	81318	.	GRCh37	11	51411592	51411592	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	16	67	0	ENST00000319760.6:c.804G>T	p.Met268Ile	p.M268I	ENST00000319760	NM_001005272.3	268	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS31497.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCATGAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF299,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000367664	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319760	Transcript	.	.	ENSG00000221840	15162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.6)	.	OR4A5_HUMAN	OR4A5	HGNC	.	.	UPI0000041D58	SNV	OR4A5,missense_variant,p.Met268Ile,ENST00000319760,;	857	67	84	SUCCESS
OR5L2	26338	.	GRCh37	11	55595514	55595514	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	36	0	ENST00000378397.1:c.820G>T	p.Ala274Ser	p.A274S	ENST00000378397	NM_001004739.1	274	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31511.1	820	RADIA|VARSCANS	.	AAGTGGCCACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000367650	.	1/1	.	.	.	.	.	.	.	.	.	1/1	oxog	ENST00000378397	Transcript	.	.	ENSG00000205030	8351	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.097)	.	deleterious(0.05)	.	OR5L2_HUMAN	OR5L2	HGNC	.	.	UPI0000041C49	SNV	OR5L2,missense_variant,p.Ala274Ser,ENST00000378397,;	820	36	39	SUCCESS
TRIM51	84767	.	GRCh37	11	55657422	55657422	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1338462153	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	19	159	0	ENST00000449290.2:c.766G>A	p.Glu256Lys	p.E256K	ENST00000449290	NM_032681.3	256	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	766	RADIA|MUTECT|MUSE|VARSCANS	.	GGTATGAGTCT	NONE	.	.	hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103	.	.	ENSP00000395086	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.09)	.	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,missense_variant,p.Glu256Lys,ENST00000449290,;TRIM51,missense_variant,p.Glu113Lys,ENST00000244891,;	858	159	210	SUCCESS
ZFPL1	7542	.	GRCh37	11	64854053	64854053	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	70	0	ENST00000294258.3:c.381G>T	p.Trp127Cys	p.W127C	ENST00000294258	NM_006782.3	127	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS8092.1	381	RADIA|VARSCANS	.	AACTGGGCCCG	NONE	.	.	hmmpanther:PTHR12981,hmmpanther:PTHR12981:SF0	.	.	ENSP00000294258	.	4/8	.	.	.	.	.	.	.	.	.	4/8	oxog	ENST00000294258	Transcript	.	.	ENSG00000162300	12868	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZFPL1_HUMAN	ZFPL1	HGNC	E9PQ47_HUMAN,E9PNY1_HUMAN	.	UPI000007347E	SNV	ZFPL1,missense_variant,p.Trp127Cys,ENST00000294258,;ZFPL1,missense_variant,p.Trp127Cys,ENST00000526334,;ZFPL1,missense_variant,p.Trp121Cys,ENST00000526945,;ZFPL1,missense_variant,p.Trp127Cys,ENST00000532200,;ZFPL1,intron_variant,,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000275517,;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000530719,;CDCA5,upstream_gene_variant,,ENST00000404147,;ZFPL1,downstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524632,;VPS51,upstream_gene_variant,,ENST00000528588,;ZFPL1,downstream_gene_variant,,ENST00000526791,;TMEM262,downstream_gene_variant,,ENST00000525544,;ZFPL1,3_prime_UTR_variant,,ENST00000531761,;ZFPL1,3_prime_UTR_variant,,ENST00000453524,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000528123,;ZFPL1,intron_variant,,ENST00000530744,;ZFPL1,downstream_gene_variant,,ENST00000526289,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000524733,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,downstream_gene_variant,,ENST00000533216,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000479032,;ZFPL1,downstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000527430,;CDCA5,upstream_gene_variant,,ENST00000462902,;	533	70	39	SUCCESS
AMOTL1	154810	.	GRCh37	11	94602492	94602492	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	53	0	ENST00000433060.2:c.2618A>G	p.Lys873Arg	p.K873R	ENST00000433060	NM_130847.2	873	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44712.1	2618	MUTECT|VARSCANS	.	CAGCAAGGACA	NONE	.	.	hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12	.	.	ENSP00000387739	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000433060	Transcript	.	.	ENSG00000166025	17811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	tolerated(0.68)	.	AMOL1_HUMAN	AMOTL1	HGNC	.	.	UPI00000742C2	SNV	AMOTL1,missense_variant,p.Lys460Arg,ENST00000317837,;AMOTL1,missense_variant,p.Lys823Arg,ENST00000317829,;AMOTL1,missense_variant,p.Lys873Arg,ENST00000433060,;RP11-856F16.2,downstream_gene_variant,,ENST00000545958,;AMOTL1,downstream_gene_variant,,ENST00000537191,;	2759	53	40	SUCCESS
STYK1	55359	.	GRCh37	12	10775259	10775259	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	12	81	0	ENST00000075503.3:c.945G>T	p.Leu315=	p.L315=	ENST00000075503	NM_018423.2	315	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8629.1	945	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGCAGGAT	BUFFER|p.L316P|c.947T>C|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF216,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000075503	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000075503	Transcript	.	.	ENSG00000060140	18889	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STYK1_HUMAN	STYK1	HGNC	F5H4G3_HUMAN,F5H366_HUMAN,F5H2I9_HUMAN	.	UPI000013C57C	SNV	STYK1,synonymous_variant,p.%3D,ENST00000075503,;STYK1,downstream_gene_variant,,ENST00000542924,;	1466	81	113	SUCCESS
KRT85	3891	.	GRCh37	12	52756032	52756032	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	rs1400968506	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	70	0	ENST00000257901.3:c.1298+3G>T		p.X433_splice	ENST00000257901	NM_002283.3	433		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8824.1	.	RADIA|VARSCANS	.	AGCCCCACCTG	NONE	.	.	.	.	.	ENSP00000257901	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257901	Transcript	.	.	ENSG00000135443	6462	.	.	LOW	7/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,splice_region_variant,,ENST00000544265,;KRT85,splice_region_variant,,ENST00000257901,;KRT85,downstream_gene_variant,,ENST00000552537,;	.	70	63	SUCCESS
TIMELESS	8914	.	GRCh37	12	56814376	56814376	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	80	0	ENST00000553532.1:c.3205G>C	p.Val1069Leu	p.V1069L	ENST00000553532		1069	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS8918.1	3205	RADIA|MUSE|VARSCANS	.	CCGAACCCCTA	NONE	.	.	Pfam_domain:PF05029,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(1)	.	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,missense_variant,p.Val1069Leu,ENST00000553532,;TIMELESS,missense_variant,p.Val566Leu,ENST00000554616,;TIMELESS,missense_variant,p.Val1068Leu,ENST00000229201,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000553314,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,downstream_gene_variant,,ENST00000555808,;	3356	80	69	SUCCESS
CAPS2	84698	.	GRCh37	12	75692559	75692559	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs372993486	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	11	74	0	ENST00000409445.3:c.1009A>G	p.Thr337Ala	p.T337A	ENST00000409445	NM_032606.3	337	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9008.2	1009	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGTTCTAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891	.	.	ENSP00000386959	.	12/18	.	.	.	.	.	.	.	.	rs372993486	12/18	PASS	ENST00000409445	Transcript	.	.	ENSG00000180881	16471	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.19)	.	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,missense_variant,p.Thr337Ala,ENST00000409445,;CAPS2,missense_variant,p.Thr255Ala,ENST00000409799,;CAPS2,missense_variant,p.Thr105Ala,ENST00000393284,;CAPS2,intron_variant,,ENST00000442339,;CAPS2,downstream_gene_variant,,ENST00000552497,;RP11-560G2.1,downstream_gene_variant,,ENST00000549953,;RP11-560G2.1,downstream_gene_variant,,ENST00000534648,;CAPS2,splice_region_variant,,ENST00000409004,;CAPS2,splice_region_variant,,ENST00000328705,;CAPS2,intron_variant,,ENST00000336815,;	1206	74	90	SUCCESS
GRTP1	79774	.	GRCh37	13	113980034	113980034	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs375273020	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	129	0	ENST00000375431.4:c.863A>G	p.Asp288Gly	p.D288G	ENST00000375431	NM_024719.2	288	gAt/gGt	0	C:0	.	.	.	.	C	D/G	protein_coding	YES	CCDS9534.2	863	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATCGCAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF232,Superfamily_domains:SSF47923	.	C:0.0001	ENSP00000364580	.	7/8	.	.	.	.	.	.	.	.	rs375273020	7/8	PASS	ENST00000375431	Transcript	.	.	ENSG00000139835	20310	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.15)	.	tolerated(0.11)	.	GRTP1_HUMAN	GRTP1	HGNC	.	.	UPI00003E2A97	SNV	GRTP1,missense_variant,p.Asp288Gly,ENST00000375431,;GRTP1,missense_variant,p.Asp288Gly,ENST00000375430,;GRTP1,missense_variant,p.Asp210Gly,ENST00000326039,;LAMP1,downstream_gene_variant,,ENST00000332556,;LAMP1,downstream_gene_variant,,ENST00000397181,;LAMP1,downstream_gene_variant,,ENST00000471046,;LAMP1,downstream_gene_variant,,ENST00000472564,;	938	129	76	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37678905	37678906	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	216	54	255	0	ENST00000379800.3:c.488dup	p.Tyr164ValfsTer16	p.Y164Vfs*16	ENST00000379800	NM_145203.5	163	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS9363.1	488-489	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTACTTTTT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	insertion	CSNK1A1L,frameshift_variant,p.Tyr164ValfsTer16,ENST00000379800,;	898-899	255	270	SUCCESS
OR4L1	122742	.	GRCh37	14	20528668	20528668	+	synonymous_variant	Silent	SNP	C	C	T	rs771452167	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	14	50	0	ENST00000315683.1:c.465C>T	p.His155=	p.H155=	ENST00000315683	NM_001004717.1	155	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS32029.1	465	RADIA|MUTECT|MUSE|VARSCANS	.	TTACACTCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF221,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000319217	.	1/1	.	.	.	.	.	.	.	.	rs771452167	1/1	PASS	ENST00000315683	Transcript	.	.	ENSG00000176246	15356	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR4L1_HUMAN	OR4L1	HGNC	.	.	UPI0000041CE3	SNV	OR4L1,synonymous_variant,p.%3D,ENST00000315683,;	465	50	96	SUCCESS
AP1G2	8906	.	GRCh37	14	24032935	24032935	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	39	0	ENST00000308724.5:c.1222G>C	p.Ala408Pro	p.A408P	ENST00000308724	NM_003917.2	408	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS9602.1	1222	RADIA|MUTECT|VARSCANS	.	TGCAGCCAGCA	NONE	.	.	hmmpanther:PTHR22780:SF22,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037094,Superfamily_domains:SSF48371	.	.	ENSP00000312442	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000308724	Transcript	.	.	ENSG00000213983	556	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AP1G2_HUMAN	AP1G2	HGNC	Q86U41_HUMAN,Q86U03_HUMAN,G3V532_HUMAN,G3V3Z2_HUMAN,G3V2V9_HUMAN	.	UPI0000124FE8	SNV	AP1G2,missense_variant,p.Ala408Pro,ENST00000308724,;AP1G2,missense_variant,p.Ala408Pro,ENST00000397120,;THTPA,downstream_gene_variant,,ENST00000556545,;THTPA,downstream_gene_variant,,ENST00000404535,;AP1G2,downstream_gene_variant,,ENST00000556843,;AP1G2,upstream_gene_variant,,ENST00000554477,;JPH4,downstream_gene_variant,,ENST00000397118,;THTPA,downstream_gene_variant,,ENST00000288014,;AP1G2,downstream_gene_variant,,ENST00000557189,;THTPA,downstream_gene_variant,,ENST00000554970,;THTPA,downstream_gene_variant,,ENST00000556015,;JPH4,downstream_gene_variant,,ENST00000356300,;THTPA,downstream_gene_variant,,ENST00000554789,;RP11-66N24.3,intron_variant,,ENST00000555968,;RP11-66N24.4,downstream_gene_variant,,ENST00000553985,;RP11-66N24.4,downstream_gene_variant,,ENST00000555446,;RP11-66N24.4,downstream_gene_variant,,ENST00000556354,;AP1G2,non_coding_transcript_exon_variant,,ENST00000555118,;AP1G2,upstream_gene_variant,,ENST00000555510,;AP1G2,downstream_gene_variant,,ENST00000556277,;AP1G2,missense_variant,p.Ala125Pro,ENST00000557162,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556741,;AP1G2,non_coding_transcript_exon_variant,,ENST00000555789,;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,;AP1G2,non_coding_transcript_exon_variant,,ENST00000557132,;AP1G2,non_coding_transcript_exon_variant,,ENST00000555974,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554977,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554554,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554982,;AP1G2,non_coding_transcript_exon_variant,,ENST00000465445,;AP1G2,downstream_gene_variant,,ENST00000556943,;AP1G2,downstream_gene_variant,,ENST00000554069,;AP1G2,downstream_gene_variant,,ENST00000554312,;AP1G2,downstream_gene_variant,,ENST00000553685,;AP1G2,downstream_gene_variant,,ENST00000556743,;AP1G2,downstream_gene_variant,,ENST00000554816,;AP1G2,downstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000557391,;AP1G2,upstream_gene_variant,,ENST00000554892,;AP1G2,downstream_gene_variant,,ENST00000557619,;AP1G2,downstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000556966,;AP1G2,downstream_gene_variant,,ENST00000555896,;AP1G2,downstream_gene_variant,,ENST00000556152,;AP1G2,downstream_gene_variant,,ENST00000553629,;	1978	39	33	SUCCESS
UNC79	57578	.	GRCh37	14	94173201	94173201	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	55	0	ENST00000393151.2:c.7859A>G	p.Gln2620Arg	p.Q2620R	ENST00000393151		2620	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS9911.2	7328	RADIA|MUTECT|VARSCANS	.	GGCCCAGGTGG	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	50/50	.	.	.	.	.	.	.	.	.	50/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Gln2620Arg,ENST00000393151,;UNC79,missense_variant,p.Gln2443Arg,ENST00000256339,;UNC79,missense_variant,p.Gln2642Arg,ENST00000553484,;UNC79,missense_variant,p.Gln2581Arg,ENST00000555664,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;	7983	55	54	SUCCESS
ACTC1	70	.	GRCh37	15	35083385	35083385	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1422171214	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	59	0	ENST00000290378.4:c.920T>C	p.Met307Thr	p.M307T	ENST00000290378	NM_005159.4	307	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS10041.1	920	RADIA|MUTECT|VARSCANS	.	GGTACATAGTG	NONE	.	.	hmmpanther:PTHR11937:SF176,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000290378	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000290378	Transcript	1	.	ENSG00000159251	143	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.553)	.	deleterious_low_confidence(0.01)	.	ACTC_HUMAN	ACTC1	HGNC	B3KPP5_HUMAN	.	UPI0000003F15	SNV	ACTC1,missense_variant,p.Met307Thr,ENST00000290378,;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,non_coding_transcript_exon_variant,,ENST00000557860,;ACTC1,downstream_gene_variant,,ENST00000560563,;	1576	59	67	SUCCESS
DISP2	85455	.	GRCh37	15	40659408	40659408	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	42	0	ENST00000267889.3:c.1095G>T	p.Leu365=	p.L365=	ENST00000267889	NM_033510.1	365	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10056.1	1095	RADIA|VARSCANS	.	ACACTGGCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	.	8/8	oxog	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,synonymous_variant,p.%3D,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	1182	42	35	SUCCESS
PLA2G4D	283748	.	GRCh37	15	42364567	42364567	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	27	0	ENST00000290472.3:c.1341A>G	p.Gly447=	p.G447=	ENST00000290472	NM_178034.3	447	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS32203.1	1341	RADIA|VARSCANS	.	CTCTGTCCTGA	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF25,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000290472	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000290472	Transcript	.	.	ENSG00000159337	30038	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PA24D_HUMAN	PLA2G4D	HGNC	.	.	UPI00001FE2F2	SNV	PLA2G4D,synonymous_variant,p.%3D,ENST00000290472,;PLA2G4D,upstream_gene_variant,,ENST00000560932,;	1436	27	23	SUCCESS
HMG20A	10363	.	GRCh37	15	77759501	77759501	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs202021605	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	40	0	ENST00000336216.4:c.302A>G	p.Asn101Ser	p.N101S	ENST00000336216		101	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS10295.1	302	MUTECT|VARSCANS	.	CAGCAATGCAC	BUFFER|p.R98*|c.292C>T|6	byFrequency|byCluster	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF158,Gene3D:1.10.30.10,Superfamily_domains:SSF47095	.	.	ENSP00000371133	.	5/11	.	.	.	.	.	.	.	.	rs202021605	5/11	PASS	ENST00000381714	Transcript	.	.	ENSG00000140382	5001	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.596)	.	deleterious(0.01)	.	HM20A_HUMAN	HMG20A	HGNC	H0YNS8_HUMAN,H0YMS9_HUMAN,H0YM80_HUMAN,H0YKM5_HUMAN,H0YK55_HUMAN,B4DMG1_HUMAN	.	UPI00000737EF	SNV	HMG20A,missense_variant,p.Asn101Ser,ENST00000560867,;HMG20A,missense_variant,p.Asn101Ser,ENST00000381714,;HMG20A,missense_variant,p.Asn101Ser,ENST00000559099,;HMG20A,missense_variant,p.Asn101Ser,ENST00000336216,;HMG20A,5_prime_UTR_variant,,ENST00000558651,;HMG20A,intron_variant,,ENST00000558176,;HMG20A,downstream_gene_variant,,ENST00000560498,;HMG20A,intron_variant,,ENST00000559035,;HMG20A,downstream_gene_variant,,ENST00000560986,;	730	40	42	SUCCESS
SEMA4B	10509	.	GRCh37	15	90768934	90768934	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	29	0	ENST00000411539.2:c.1563G>T	p.Val521=	p.V521=	ENST00000411539	NM_198925.2	521	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45347.1	1563	RADIA|VARSCANS	.	CAGGTGCCCAT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF14,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	.	ENSP00000394720	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000411539	Transcript	.	.	ENSG00000185033	10730	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SEMA4B	HGNC	Q4VBY2_HUMAN,J3KNP4_HUMAN,H0YMR1_HUMAN,H0YMD6_HUMAN,H0YLN3_HUMAN	.	UPI0000197391	SNV	SEMA4B,synonymous_variant,p.%3D,ENST00000559247,;SEMA4B,synonymous_variant,p.%3D,ENST00000332496,;SEMA4B,synonymous_variant,p.%3D,ENST00000559983,;SEMA4B,synonymous_variant,p.%3D,ENST00000379122,;SEMA4B,synonymous_variant,p.%3D,ENST00000559074,;SEMA4B,synonymous_variant,p.%3D,ENST00000411539,;SEMA4B,downstream_gene_variant,,ENST00000561085,;SEMA4B,downstream_gene_variant,,ENST00000558051,;CIB1,downstream_gene_variant,,ENST00000328649,;SEMA4B,3_prime_UTR_variant,,ENST00000560089,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000560993,;SEMA4B,downstream_gene_variant,,ENST00000561252,;SEMA4B,upstream_gene_variant,,ENST00000561321,;SEMA4B,downstream_gene_variant,,ENST00000558975,;	1823	29	31	SUCCESS
FAM169B	283777	.	GRCh37	15	98995196	98995196	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	43	0	ENST00000558256.1:c.228T>C	p.Pro76=	p.P76=	ENST00000558256	NM_182562.2	76	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS45360.1	228	RADIA|VARSCANS	.	AAGACAGGCAG	NONE	.	.	hmmpanther:PTHR22442:SF4,hmmpanther:PTHR22442	.	.	ENSP00000453554	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000558256	Transcript	.	.	ENSG00000185087	26835	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F169B_HUMAN	FAM169B	HGNC	.	.	UPI0000199E5A	SNV	FAM169B,synonymous_variant,p.%3D,ENST00000332908,;FAM169B,synonymous_variant,p.%3D,ENST00000558256,;	478	43	33	SUCCESS
XPO6	23214	.	GRCh37	16	28167768	28167768	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	45	0	ENST00000304658.5:c.724A>T	p.Ser242Cys	p.S242C	ENST00000304658	NM_015171.3	242	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS42135.1	724	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTCTCCA	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF08389,Gene3D:1.25.10.10,hmmpanther:PTHR21452	.	.	ENSP00000302790	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,missense_variant,p.Ser242Cys,ENST00000304658,;XPO6,missense_variant,p.Ser79Cys,ENST00000574435,;XPO6,missense_variant,p.Ser228Cys,ENST00000565698,;XPO6,non_coding_transcript_exon_variant,,ENST00000573645,;XPO6,non_coding_transcript_exon_variant,,ENST00000569973,;XPO6,upstream_gene_variant,,ENST00000564337,;XPO6,upstream_gene_variant,,ENST00000561488,;XPO6,upstream_gene_variant,,ENST00000566175,;XPO6,upstream_gene_variant,,ENST00000565284,;XPO6,upstream_gene_variant,,ENST00000570294,;	1225	45	44	SUCCESS
ABCC12	94160	.	GRCh37	16	48149506	48149506	+	synonymous_variant	Silent	SNP	G	G	A	rs770598854	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	18	0	ENST00000311303.3:c.1809C>T	p.Leu603=	p.L603=	ENST00000311303	NM_033226.2	603	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10730.1	1809	MUTECT|VARSCANS	.	CCAGAGAGGTT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,PROSITE_patterns:PS00211,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311030	.	13/29	.	.	.	.	.	.	.	.	rs770598854	13/29	PASS	ENST00000311303	Transcript	.	.	ENSG00000140798	14640	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRP9_HUMAN	ABCC12	HGNC	E9PHY2_HUMAN	.	UPI0000456987	SNV	ABCC12,missense_variant,p.Ser579Phe,ENST00000416054,;ABCC12,synonymous_variant,p.%3D,ENST00000448542,;ABCC12,synonymous_variant,p.%3D,ENST00000311303,;ABCC12,missense_variant,p.Ser579Phe,ENST00000529084,;ABCC12,synonymous_variant,p.%3D,ENST00000532494,;ABCC12,synonymous_variant,p.%3D,ENST00000529504,;ABCC12,synonymous_variant,p.%3D,ENST00000497206,;ABCC12,synonymous_variant,p.%3D,ENST00000534418,;ABCC12,upstream_gene_variant,,ENST00000533185,;	2155	18	18	SUCCESS
CHD9	80205	.	GRCh37	16	53340280	53340280	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	73	0	ENST00000398510.3:c.6751del	p.Tyr2251IlefsTer13	p.Y2251Ifs*13	ENST00000398510		2251	Tat/at	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS45485.1	6751	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGATATATG	NONE	.	.	.	.	.	ENSP00000457466	.	32/39	.	.	.	.	.	.	.	.	.	32/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	deletion	CHD9,frameshift_variant,p.Tyr2251IlefsTer13,ENST00000566029,;CHD9,frameshift_variant,p.Tyr2252IlefsTer13,ENST00000447540,;CHD9,frameshift_variant,p.Tyr2251IlefsTer13,ENST00000564845,;CHD9,frameshift_variant,p.Tyr2251IlefsTer13,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	6960	73	93	SUCCESS
FANCA	2175	.	GRCh37	16	89807184	89807184	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	88	0	ENST00000389301.3:c.3828+28T>G		p.*1276*	ENST00000389301	NM_000135.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45554.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGACACCT	NONE	.	2205	.	.	.	ENSP00000415836	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443381	Transcript	.	.	ENSG00000158805	23330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN276_HUMAN	ZNF276	HGNC	.	.	UPI0000EE7D9C	SNV	ZNF276,3_prime_UTR_variant,,ENST00000289816,;FANCA,intron_variant,,ENST00000389301,;FANCA,intron_variant,,ENST00000567879,;FANCA,intron_variant,,ENST00000564475,;FANCA,intron_variant,,ENST00000568369,;FANCA,intron_variant,,ENST00000564870,;FANCA,upstream_gene_variant,,ENST00000561722,;ZNF276,downstream_gene_variant,,ENST00000568064,;ZNF276,downstream_gene_variant,,ENST00000443381,;ZNF276,downstream_gene_variant,,ENST00000446326,;FANCA,intron_variant,,ENST00000564969,;FANCA,intron_variant,,ENST00000568626,;FANCA,intron_variant,,ENST00000305699,;ZNF276,downstream_gene_variant,,ENST00000563983,;FANCA,downstream_gene_variant,,ENST00000568983,;ZNF276,downstream_gene_variant,,ENST00000564004,;FANCA,upstream_gene_variant,,ENST00000562424,;ZNF276,downstream_gene_variant,,ENST00000568295,;ZNF276,downstream_gene_variant,,ENST00000561536,;ZNF276,downstream_gene_variant,,ENST00000569901,;FANCA,downstream_gene_variant,,ENST00000561660,;FANCA,downstream_gene_variant,,ENST00000567988,;ZNF276,downstream_gene_variant,,ENST00000569582,;ZNF276,downstream_gene_variant,,ENST00000562530,;	.	88	101	SUCCESS
MAP2K4	6416	.	GRCh37	17	11998923	11998923	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	66	0	ENST00000353533.5:c.429del	p.Lys143AsnfsTer9	p.K143Nfs*9	ENST00000353533	NM_003010.3	142	cAa/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS11162.1	425	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGAACAAAAAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF46,hmmpanther:PTHR24360,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262445	.	4/11	.	.	.	.	.	.	.	.	COSM12870	4/11	PASS	ENST00000353533	Transcript	.	.	ENSG00000065559	6844	4	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	MP2K4_HUMAN	MAP2K4	HGNC	J3QQR2_HUMAN,J3KTI6_HUMAN	.	UPI000012F48E	deletion	MAP2K4,frameshift_variant,p.Lys143AsnfsTer9,ENST00000353533,;MAP2K4,frameshift_variant,p.Lys154AsnfsTer9,ENST00000415385,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000582897,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000579089,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000581941,;MAP2K4,frameshift_variant,p.Asn85ThrfsTer13,ENST00000602375,;MAP2K4,3_prime_UTR_variant,,ENST00000602811,;MAP2K4,3_prime_UTR_variant,,ENST00000582183,;MAP2K4,3_prime_UTR_variant,,ENST00000538465,;MAP2K4,3_prime_UTR_variant,,ENST00000602537,;MAP2K4,3_prime_UTR_variant,,ENST00000602686,;MAP2K4,3_prime_UTR_variant,,ENST00000602305,;MAP2K4,non_coding_transcript_exon_variant,,ENST00000582377,;	488	66	67	SUCCESS
WDR81	124997	.	GRCh37	17	1631824	1631824	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	57	0	ENST00000409644.1:c.3571G>T	p.Glu1191Ter	p.E1191*	ENST00000409644	NM_001163809.1	1191	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54062.1	3571	RADIA|VARSCANS	.	CCATGGAGACG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314	.	.	ENSP00000386609	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000409644	Transcript	.	.	ENSG00000167716	26600	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR81_HUMAN	WDR81	HGNC	E9PDG3_HUMAN,C9JD20_HUMAN	.	UPI0001881A85	SNV	WDR81,stop_gained,p.Glu108Ter,ENST00000575206,;WDR81,stop_gained,p.Glu140Ter,ENST00000309182,;WDR81,stop_gained,p.Glu1191Ter,ENST00000409644,;WDR81,intron_variant,,ENST00000468539,;WDR81,intron_variant,,ENST00000419248,;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000437219,;WDR81,intron_variant,,ENST00000418841,;WDR81,upstream_gene_variant,,ENST00000545662,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000495411,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000474958,;	3571	57	35	SUCCESS
TM4SF5	9032	.	GRCh37	17	4686278	4686278	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	99	0	ENST00000270560.3:c.525C>T	p.Ile175=	p.I175=	ENST00000270560	NM_003963.2	175	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11054.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATCCAGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14198:SF4,hmmpanther:PTHR14198,Pfam_domain:PF05805	.	.	ENSP00000270560	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000270560	Transcript	.	.	ENSG00000142484	11857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T4S5_HUMAN	TM4SF5	HGNC	.	.	UPI0000152C4B	SNV	TM4SF5,synonymous_variant,p.%3D,ENST00000270560,;VMO1,downstream_gene_variant,,ENST00000441199,;VMO1,downstream_gene_variant,,ENST00000328739,;VMO1,downstream_gene_variant,,ENST00000416307,;VMO1,downstream_gene_variant,,ENST00000354194,;TM4SF5,non_coding_transcript_exon_variant,,ENST00000576530,;	556	99	69	SUCCESS
TP53	7157	.	GRCh37	17	7577531	7577531	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs1567549203	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	81	69	0	ENST00000269305.4:c.750del	p.Ile251SerfsTer94	p.I251Sfs*94	ENST00000269305	NM_001126112.2	250	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS11118.1	750	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGATGGGCCT	CODON|p.0?|c.1_1182del1182|6,CODON|p.L252_I254delLTI|c.751_759delATCCTCACC|4,CODON|p.I251fs*94|c.751delA|6,CODON|p.I251L|c.751A>C|3,CODON|p.I251F|c.751A>T|8,CODON|p.P250P|c.750C>T|4,CODON|p.P250F|c.748_749CC>TT|3,BUFFER|p.I255delI|c.760_762delATC|3,BUFFER|p.I255fs*90|c.762delC|3,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254S|c.761T>G|9,BUFFER|p.I254N|c.761T>A|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254T|c.761T>C|3,BUFFER|p.I254F|c.760A>T|7,BUFFER|p.I254V|c.760A>G|6,BUFFER|p.I254fs*10|c.759_760insN|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	TP53_g.13387C>G,TP53_g.13387C>T,COSM43957,COSM437492,COSM437493,COSM437494	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1,1,1,1	.	.	.	.	.	0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Ile251SerfsTer18,ENST00000413465,;TP53,frameshift_variant,p.Ile251SerfsTer100,ENST00000420246,;TP53,frameshift_variant,p.Ile251SerfsTer94,ENST00000269305,;TP53,frameshift_variant,p.Ile119SerfsTer?,ENST00000509690,;TP53,frameshift_variant,p.Ile251SerfsTer101,ENST00000359597,;TP53,frameshift_variant,p.Ile251SerfsTer94,ENST00000445888,;TP53,frameshift_variant,p.Ile251SerfsTer92,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	940	69	276	SUCCESS
ALOXE3	59344	.	GRCh37	17	8012628	8012628	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1198565136	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	50	0	ENST00000448843.2:c.1426C>T	p.Leu476Phe	p.L476F	ENST00000448843	NM_021628.2	476	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS54084.1	1822	RADIA|VARSCANS	.	CATGAGGTAGA	NONE	.	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF40,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484	.	.	ENSP00000314879	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000318227	Transcript	.	.	ENSG00000179148	13743	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.861)	.	deleterious(0.02)	.	LOXE3_HUMAN	ALOXE3	HGNC	.	.	UPI0000EE63AA	SNV	ALOXE3,missense_variant,p.Leu476Phe,ENST00000448843,;ALOXE3,missense_variant,p.Leu632Phe,ENST00000380149,;ALOXE3,missense_variant,p.Leu608Phe,ENST00000318227,;	2091	50	26	SUCCESS
DSC2	1824	.	GRCh37	18	28648117	28648117	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	24	88	0	ENST00000280904.6:c.2570A>G	p.Tyr857Cys	p.Y857C	ENST00000280904	NM_024422.3	857	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11892.1	2570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATATGTC	NONE	.	.	hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,Pfam_domain:PF01049,Gene3D:4.10.900.10	.	.	ENSP00000280904	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000280904	Transcript	.	.	ENSG00000134755	3036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	DSC2_HUMAN	DSC2	HGNC	A9X9L1_HUMAN	.	UPI00001298F9	SNV	DSC2,missense_variant,p.Tyr857Cys,ENST00000280904,;DSC2,3_prime_UTR_variant,,ENST00000251081,;snoU13,upstream_gene_variant,,ENST00000459603,;	3014	88	119	SUCCESS
LAMA1	284217	.	GRCh37	18	6958590	6958590	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751200271	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	8	102	0	ENST00000389658.3:c.7850C>T	p.Thr2617Met	p.T2617M	ENST00000389658	NM_005559.3	2617	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS32787.1	7850	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCGTCCTG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000374309	.	55/63	.	.	.	.	.	.	.	.	rs751200271,COSM4073137	55/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.87)	.	deleterious(0.01)	0,1	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Thr2617Met,ENST00000389658,;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000492048,;	7944	102	86	SUCCESS
ZNF543	125919	.	GRCh37	19	57840605	57840605	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	34	0	ENST00000321545.4:c.1775A>G	p.Asn592Ser	p.N592S	ENST00000321545	NM_213598.3	592	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33130.1	1775	RADIA|VARSCANS	.	TTTGAATATCA	NONE	.	.	.	.	.	ENSP00000322545	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000321545	Transcript	.	.	ENSG00000178229	25281	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.06)	.	ZN543_HUMAN	ZNF543	HGNC	.	.	UPI00001D8197	SNV	ZNF543,missense_variant,p.Asn592Ser,ENST00000321545,;	2120	34	26	SUCCESS
ZNF549	256051	.	GRCh37	19	58048901	58048901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	40	0	ENST00000376233.3:c.529C>A	p.Leu177Met	p.L177M	ENST00000376233	NM_001199295.1	177	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS56106.1	529	RADIA|MUTECT|VARSCANS	.	TTCCTCTGTCA	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF30	.	.	ENSP00000365407	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376233	Transcript	.	.	ENSG00000121406	26632	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.004)	.	tolerated(0.24)	.	ZN549_HUMAN	ZNF549	HGNC	.	.	UPI0000202D31	SNV	ZNF549,missense_variant,p.Leu164Met,ENST00000240719,;ZNF549,missense_variant,p.Leu177Met,ENST00000376233,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,downstream_gene_variant,,ENST00000457177,;ZNF550,downstream_gene_variant,,ENST00000325134,;ZNF550,downstream_gene_variant,,ENST00000447310,;ZNF550,downstream_gene_variant,,ENST00000376230,;	710	40	49	SUCCESS
A1BG-AS1	503538	.	GRCh37	19	58864757	58864757	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	102	0	ENST00000595302.1:n.1088C>A		p.*363*	ENST00000595302				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12976.1	.	MUTECT|VARSCANS	.	GACCCCAGGAG	NONE	.	.	.	.	.	ENSP00000263100	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263100	Transcript	.	.	ENSG00000121410	5	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	SNV	A1BG,intron_variant,,ENST00000263100,;A1BG,upstream_gene_variant,,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,;ZNF497,downstream_gene_variant,,ENST00000595763,;ZNF497,downstream_gene_variant,,ENST00000425453,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000593374,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000594950,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000600379,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000595302,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000593960,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000599728,;A1BG-AS1,intron_variant,,ENST00000600686,;CTD-2619J13.9,upstream_gene_variant,,ENST00000599952,;CTD-2619J13.8,intron_variant,,ENST00000599109,;CTD-2619J13.8,intron_variant,,ENST00000600123,;CTD-2619J13.8,intron_variant,,ENST00000596636,;A1BG,intron_variant,,ENST00000595014,;	.	102	64	SUCCESS
COL11A1	1301	.	GRCh37	1	103343720	103343720	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	46	0	ENST00000370096.3:c.5276C>A	p.Ser1759Tyr	p.S1759Y	ENST00000370096	NM_001854.3	1759	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS778.1	5276	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGACTGT	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01410,SMART_domains:SM00038	.	.	ENSP00000359114	.	67/67	.	.	.	.	.	.	.	.	.	67/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Ser1643Tyr,ENST00000512756,;COL11A1,missense_variant,p.Ser1720Tyr,ENST00000353414,;COL11A1,missense_variant,p.Ser1759Tyr,ENST00000370096,;COL11A1,missense_variant,p.Ser1771Tyr,ENST00000358392,;COL11A1,splice_region_variant,,ENST00000470170,;	5589	46	93	SUCCESS
KIF1B	23095	.	GRCh37	1	10381913	10381913	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	61	0	ENST00000377086.1:c.2356A>C	p.Lys786Gln	p.K786Q	ENST00000377086		786	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS111.1	2218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAAGGTA	NONE	.	.	hmmpanther:PTHR24115:SF328,hmmpanther:PTHR24115	.	.	ENSP00000263934	.	22/47	.	.	.	.	.	.	.	.	.	22/47	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	tolerated(0.17)	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,missense_variant,p.Lys786Gln,ENST00000377081,;KIF1B,missense_variant,p.Lys786Gln,ENST00000377086,;KIF1B,missense_variant,p.Lys740Gln,ENST00000263934,;	2371	61	71	SUCCESS
KIRREL	0	.	GRCh37	1	158063179	158063179	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	38	0	ENST00000359209.6:c.1522C>A	p.Leu508Met	p.L508M	ENST00000359209		508	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS1172.2	1522	RADIA|VARSCANS	.	GCATCCTGCTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640	.	.	ENSP00000352138	.	12/15	.	.	.	.	.	.	.	.	.	12/15	oxog	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.611)	.	deleterious(0.02)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Leu344Met,ENST00000360089,;KIRREL,missense_variant,p.Leu524Met,ENST00000368173,;KIRREL,missense_variant,p.Leu322Met,ENST00000368172,;KIRREL,missense_variant,p.Leu408Met,ENST00000416935,;KIRREL,missense_variant,p.Leu508Met,ENST00000359209,;KIRREL,missense_variant,p.Leu405Met,ENST00000392272,;	1589	38	39	SUCCESS
FCGR3B	2215	.	GRCh37	1	161600871	161600871	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	87	0	ENST00000294800.3:c.14T>G	p.Leu5Arg	p.L5R	ENST00000294800	NM_001271035.1	5	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS58040.1	122	MUTECT|MUSE|VARSCANS	.	GGAGGAGCAGC	NONE	.	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14,Low_complexity_(Seg):seg	.	.	ENSP00000433642	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000531221	Transcript	.	.	ENSG00000162747	3620	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	.	FCGR3B	HGNC	M9MML6_HUMAN,E9PNY5_HUMAN	.	UPI000066D8C5	SNV	FCGR3B,missense_variant,p.Leu27Arg,ENST00000421702,;FCGR3B,missense_variant,p.Leu41Arg,ENST00000531221,;FCGR3B,missense_variant,p.Leu5Arg,ENST00000367964,;FCGR3B,missense_variant,p.Leu5Arg,ENST00000294800,;FCGR3A,missense_variant,p.Leu5Arg,ENST00000540048,;FCGR2B,intron_variant,,ENST00000403078,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000428605,;FCGR2B,intron_variant,,ENST00000367962,;FCGR3B,upstream_gene_variant,,ENST00000534776,;FCGR3B,non_coding_transcript_exon_variant,,ENST00000534489,;FCGR3B,upstream_gene_variant,,ENST00000533780,;	126	87	68	SUCCESS
KIF21B	23046	.	GRCh37	1	200959272	200959272	+	synonymous_variant	Silent	SNP	C	C	T	rs766135570	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	107	1	ENST00000422435.2:c.3024G>A	p.Glu1008=	p.E1008=	ENST00000422435	NM_001252100.1	1008	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS58056.1	3024	RADIA|MUTECT|VARSCANS	.	TTGGTCTCCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Superfamily_domains:SSF46579	.	.	ENSP00000411831	.	20/35	.	.	.	.	.	.	.	.	rs766135570	20/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,synonymous_variant,p.%3D,ENST00000422435,;KIF21B,synonymous_variant,p.%3D,ENST00000360529,;KIF21B,synonymous_variant,p.%3D,ENST00000461742,;KIF21B,synonymous_variant,p.%3D,ENST00000332129,;	3341	108	74	SUCCESS
ELK4	2005	.	GRCh37	1	205588972	205588972	+	intron_variant	Intron	SNP	C	C	T	rs778437914	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	73	0	ENST00000357992.4:c.1080+122G>A		p.*360*	ENST00000357992	NM_001973.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1456.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCACACATAAC	NONE	.	.	.	.	.	ENSP00000350681	.	.	.	.	.	.	.	.	.	.	rs778437914	.	PASS	ENST00000357992	Transcript	.	.	ENSG00000158711	3326	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ELK4_HUMAN	ELK4	HGNC	Q8IXL1_HUMAN	.	UPI0000129E67	SNV	ELK4,missense_variant,p.Cys401Tyr,ENST00000289703,;ELK4,intron_variant,,ENST00000357992,;ELK4,downstream_gene_variant,,ENST00000468523,;	.	73	94	SUCCESS
USH2A	7399	.	GRCh37	1	216538320	216538320	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	66	0	ENST00000307340.3:c.759T>C	p.Thr253=	p.T253=	ENST00000307340	NM_206933.2	253	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31025.1	759	RADIA|MUTECT|MUSE|VARSCANS	.	TGCACAGTACC	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00560,Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	.	.	ENSP00000305941	.	4/72	.	.	.	.	.	.	.	.	COSM1338879	4/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366942,;USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	1146	66	98	SUCCESS
MLK4	0	.	GRCh37	1	233512249	233512249	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1418321967	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	67	0	ENST00000366624.3:c.1900G>T	p.Ala634Ser	p.A634S	ENST00000366624	NM_032435.2	634	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1598.1	1900	MUTECT|VARSCANS	.	CCTTGGCTTCA	NONE	.	.	PIRSF_domain:PIRSF000556	.	.	ENSP00000355583	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000366624	Transcript	.	.	ENSG00000143674	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.17)	.	M3KL4_HUMAN	MLK4	Uniprot_gn	.	.	UPI000013D922	SNV	MLK4,missense_variant,p.Ala634Ser,ENST00000366624,;MLK4,missense_variant,p.Ala80Ser,ENST00000366622,;MLK4,downstream_gene_variant,,ENST00000366623,;	2161	67	79	SUCCESS
PGBD2	267002	.	GRCh37	1	249211485	249211485	+	synonymous_variant	Silent	SNP	C	C	T	rs888823858	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	33	0	ENST00000329291.5:c.702C>T	p.Asn234=	p.N234=	ENST00000329291	NM_170725.2	234	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS31128.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAACGAACT	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000331643	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329291	Transcript	.	.	ENSG00000185220	19399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBD2_HUMAN	PGBD2	HGNC	.	.	UPI000016196D	SNV	PGBD2,synonymous_variant,p.%3D,ENST00000539153,;PGBD2,synonymous_variant,p.%3D,ENST00000329291,;PGBD2,5_prime_UTR_variant,,ENST00000355360,;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,non_coding_transcript_exon_variant,,ENST00000462488,;	849	33	39	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77528691	77528691	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	86	0	ENST00000477717.1:c.811T>C	p.Tyr271His	p.Y271H	ENST00000477717	NM_030965.1	271	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS673.1	811	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTATTAT	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF33	.	.	ENSP00000417583	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000477717	Transcript	.	.	ENSG00000117069	19342	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,missense_variant,p.Tyr271His,ENST00000477717,;RP4-564M11.2,upstream_gene_variant,,ENST00000454305,;ST6GALNAC5,3_prime_UTR_variant,,ENST00000318803,;	1046	86	101	SUCCESS
ELTD1	0	.	GRCh37	1	79356902	79356902	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1337265043	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	225	37	171	0	ENST00000370742.3:c.2011-1G>A		p.X671_splice	ENST00000370742	NM_022159.3	671		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41352.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCTAAAA	NONE	.	.	.	.	.	ENSP00000359778	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	HIGH	14/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,splice_acceptor_variant,,ENST00000370742,;ELTD1,splice_acceptor_variant,,ENST00000401034,;	.	171	263	SUCCESS
RTEL1-TNFRSF6B	100533107	.	GRCh37	20	62322251	62322251	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	rs761063091	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	79	0	ENST00000482936.1:c.2507C>A	p.Ala836Asp	p.A836D	ENST00000482936		836	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS13530.3	2579	RADIA|VARSCANS	.	GCTGGCCGCCC	NONE	byFrequency	.	hmmpanther:PTHR11472:SF4,hmmpanther:PTHR11472	.	.	ENSP00000424307	.	27/35	.	.	.	.	.	.	.	.	rs761063091	27/35	oxog	ENST00000508582	Transcript	1	.	ENSG00000258366	15888	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.76)	.	RTEL1_HUMAN	RTEL1	HGNC	.	.	UPI00019B2219	SNV	RTEL1,missense_variant,p.Ala836Asp,ENST00000370018,;RTEL1,missense_variant,p.Ala836Asp,ENST00000360203,;RTEL1,missense_variant,p.Ala860Asp,ENST00000508582,;RTEL1,missense_variant,p.Ala836Asp,ENST00000318100,;RTEL1,missense_variant,p.Ala81Asp,ENST00000370003,;RTEL1,downstream_gene_variant,,ENST00000425905,;RTEL1,missense_variant,p.Ala129Asp,ENST00000496816,;RTEL1-TNFRSF6B,missense_variant,p.Ala836Asp,ENST00000482936,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;	2925	79	38	SUCCESS
C21orf54	0	.	GRCh37	21	34540848	34540848	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs551756589	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	59	0	ENST00000451980.2:c.206G>A	p.Arg69His	p.R69H	ENST00000451980		69	cGc/cAc	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	.	206	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCGCGCTTG	NONE	by1000G	.	.	T:0.001	.	ENSP00000407868	T:0	3/4	.	.	.	.	.	.	.	.	rs551756589	3/4	PASS	ENST00000451980	Transcript	.	T:0.0002	ENSG00000229086	1296	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	T:0	.	.	CU054_HUMAN	C21orf54	HGNC	.	.	UPI000019783D	SNV	C21orf54,missense_variant,p.Arg69His,ENST00000451980,;	273	59	52	SUCCESS
RANBP2	5903	.	GRCh37	2	109347859	109347859	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	642	92	748	0	ENST00000283195.6:c.334G>T	p.Gly112Ter	p.G112*	ENST00000283195	NM_006267.4	112	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS2079.1	334	RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGGAAGA	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000283195	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,stop_gained,p.Gly112Ter,ENST00000283195,;RANBP2,3_prime_UTR_variant,,ENST00000425282,;RANBP2,non_coding_transcript_exon_variant,,ENST00000495924,;	460	748	734	SUCCESS
RANBP2	5903	.	GRCh37	2	109392308	109392308	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	28	0	ENST00000283195.6:c.8413T>C	p.Ser2805Pro	p.S2805P	ENST00000283195	NM_006267.4	2805	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2079.1	8413	RADIA|VARSCANS	.	TTAGTTCACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8	.	.	ENSP00000283195	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000283195	Transcript	.	.	ENSG00000153201	9848	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.854)	.	tolerated(0.15)	.	RBP2_HUMAN	RANBP2	HGNC	I1Z9D1_HUMAN	.	UPI0000207FB9	SNV	RANBP2,missense_variant,p.Ser2805Pro,ENST00000283195,;	8539	28	38	SUCCESS
PAX8	7849	.	GRCh37	2	114004482	114004482	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	45	0	ENST00000263334.5:c.40A>G	p.Asn14Asp	p.N14D	ENST00000263334		14	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS46398.1	40	RADIA|VARSCANS	.	CTGGTTCAGCC	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Gene3D:1.10.10.10,Pfam_domain:PF00292,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF10,PROSITE_profiles:PS51057	.	.	ENSP00000395498	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000429538	Transcript	.	.	ENSG00000125618	8622	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	PAX8_HUMAN	PAX8	HGNC	R9W7C9_HUMAN	.	UPI0000071DEC	SNV	PAX8,missense_variant,p.Asn14Asp,ENST00000263334,;PAX8,missense_variant,p.Asn14Asp,ENST00000348715,;PAX8,missense_variant,p.Asn14Asp,ENST00000429538,;PAX8,missense_variant,p.Asn14Asp,ENST00000263335,;PAX8,missense_variant,p.Asn14Asp,ENST00000397647,;PAX8-AS1,intron_variant,,ENST00000436293,;PAX8-AS1,intron_variant,,ENST00000445745,;PAX8-AS1,intron_variant,,ENST00000556070,;PAX8-AS1,intron_variant,,ENST00000422956,;PAX8-AS1,intron_variant,,ENST00000333145,;PAX8-AS1,intron_variant,,ENST00000451179,;PAX8-AS1,intron_variant,,ENST00000553869,;PAX8-AS1,upstream_gene_variant,,ENST00000510859,;PAX8,non_coding_transcript_exon_variant,,ENST00000467778,;PAX8,intron_variant,,ENST00000554830,;	235	45	37	SUCCESS
AC093838.4	0	.	GRCh37	2	132277738	132277738	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	57	0	ENST00000438378.2:n.2377C>A		p.*793*	ENST00000438378				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CACCTCACAGA	NONE	.	.	.	.	.	.	.	18/18	.	.	.	.	.	.	.	.	.	18/18	oxog	ENST00000438378	Transcript	.	.	ENSG00000152117	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC093838.4	Clone_based_vega_gene	.	.	.	SNV	AC093838.4,non_coding_transcript_exon_variant,,ENST00000438378,;AC093838.4,non_coding_transcript_exon_variant,,ENST00000536977,;AC093838.4,non_coding_transcript_exon_variant,,ENST00000415574,;AC093838.4,downstream_gene_variant,,ENST00000538598,;AC093838.4,downstream_gene_variant,,ENST00000416745,;AC093838.4,downstream_gene_variant,,ENST00000426369,;AC093838.4,downstream_gene_variant,,ENST00000543513,;	2377	57	33	SUCCESS
GTDC1	79712	.	GRCh37	2	144903283	144903283	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	27	0	ENST00000344850.4:c.203T>A	p.Leu68His	p.L68H	ENST00000344850		68	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS33300.1	203	RADIA|MUTECT|VARSCANS	.	GGTTAAGCACT	NONE	.	.	Pfam_domain:PF12038,hmmpanther:PTHR13615:SF1,hmmpanther:PTHR13615	.	.	ENSP00000376608	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000392869	Transcript	.	.	ENSG00000121964	20887	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GTDC1_HUMAN	GTDC1	HGNC	G5EA49_HUMAN,G1UFN1_HUMAN,C9JIH3_HUMAN,C9J2C5_HUMAN	.	UPI000022BC3B	SNV	GTDC1,missense_variant,p.Leu68His,ENST00000344850,;GTDC1,missense_variant,p.Leu68His,ENST00000409214,;GTDC1,missense_variant,p.Leu68His,ENST00000437114,;GTDC1,missense_variant,p.Leu68His,ENST00000241391,;GTDC1,missense_variant,p.Leu68His,ENST00000409298,;GTDC1,missense_variant,p.Leu68His,ENST00000392867,;GTDC1,missense_variant,p.Leu68His,ENST00000542155,;GTDC1,missense_variant,p.Leu68His,ENST00000417450,;GTDC1,missense_variant,p.Leu68His,ENST00000392869,;GTDC1,5_prime_UTR_variant,,ENST00000463875,;GTDC1,non_coding_transcript_exon_variant,,ENST00000482601,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,missense_variant,p.Leu68His,ENST00000392871,;GTDC1,3_prime_UTR_variant,,ENST00000415569,;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;	356	27	51	SUCCESS
CIR1	9541	.	GRCh37	2	175244954	175244954	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	87	0	ENST00000342016.3:c.342C>T	p.Ile114=	p.I114=	ENST00000342016	NM_004882.3	114	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS2256.1	342	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGATGTT	NONE	.	.	hmmpanther:PTHR13151	.	.	ENSP00000339723	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000342016	Transcript	.	.	ENSG00000138433	24217	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CIR1_HUMAN	CIR1	HGNC	.	.	UPI000000DB2A	SNV	CIR1,synonymous_variant,p.%3D,ENST00000362053,;CIR1,synonymous_variant,p.%3D,ENST00000377973,;CIR1,synonymous_variant,p.%3D,ENST00000342016,;CIR1,non_coding_transcript_exon_variant,,ENST00000461454,;	435	87	130	SUCCESS
PMS1	5378	.	GRCh37	2	190719433	190719433	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs749923368	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	11	76	0	ENST00000441310.2:c.1438del	p.Glu480LysfsTer36	p.E480Kfs*36	ENST00000441310	NM_000534.4	479	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS2302.1	1435	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAGTGGGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38	.	.	ENSP00000406490	.	9/13	.	.	.	.	.	.	.	.	rs749923368	9/13	PASS	ENST00000441310	Transcript	.	.	ENSG00000064933	9121	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PMS1_HUMAN	PMS1	HGNC	Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN	.	UPI00000405F5	deletion	PMS1,frameshift_variant,p.Glu419LysfsTer36,ENST00000424307,;PMS1,frameshift_variant,p.Glu480LysfsTer36,ENST00000441310,;PMS1,frameshift_variant,p.Glu304LysfsTer36,ENST00000432292,;PMS1,frameshift_variant,p.Glu480LysfsTer36,ENST00000447232,;PMS1,frameshift_variant,p.Glu441LysfsTer36,ENST00000409823,;PMS1,frameshift_variant,p.Glu265LysfsTer36,ENST00000409593,;PMS1,frameshift_variant,p.Glu304LysfsTer36,ENST00000418224,;PMS1,upstream_gene_variant,,ENST00000452382,;PMS1,non_coding_transcript_exon_variant,,ENST00000424059,;PMS1,non_coding_transcript_exon_variant,,ENST00000421722,;PMS1,upstream_gene_variant,,ENST00000483293,;PMS1,frameshift_variant,p.Glu441LysfsTer36,ENST00000450931,;PMS1,3_prime_UTR_variant,,ENST00000342075,;PMS1,downstream_gene_variant,,ENST00000447734,;	1668	76	111	SUCCESS
NYAP2	57624	.	GRCh37	2	226378354	226378354	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	37	0	ENST00000272907.6:c.489C>T	p.Ala163=	p.A163=	ENST00000272907	NM_020864.1	163	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46529.1	489	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCAGTAA	NONE	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633,Low_complexity_(Seg):seg	.	.	ENSP00000272907	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,synonymous_variant,p.%3D,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	902	37	42	SUCCESS
BIRC6	57448	.	GRCh37	2	32626685	32626685	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746057727	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	74	1	ENST00000421745.2:c.1412G>A	p.Gly471Glu	p.G471E	ENST00000421745	NM_016252.3	471	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS33175.2	1412	RADIA|VARSCANS	.	GGAAGGAGATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	8/74	.	.	.	.	.	.	.	.	rs746057727	8/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Gly471Glu,ENST00000421745,;BIRC6,downstream_gene_variant,,ENST00000466527,;	1546	75	86	SUCCESS
SMYD5	10322	.	GRCh37	2	73447311	73447311	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1025683682	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	31	0	ENST00000389501.4:c.338A>G	p.His113Arg	p.H113R	ENST00000389501	NM_006062.2	113	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33221.2	338	RADIA|VARSCANS	.	TCCCCATTGCC	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF153,Pfam_domain:PF00856,SMART_domains:SM00317	.	.	ENSP00000374152	.	3/13	.	.	.	.	.	.	.	.	COSM1669036	3/13	PASS	ENST00000389501	Transcript	.	.	ENSG00000135632	16258	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.003)	.	tolerated(0.8)	1	SMYD5_HUMAN	SMYD5	HGNC	B4DUT1_HUMAN	.	UPI0000161654	SNV	SMYD5,missense_variant,p.His113Arg,ENST00000389501,;SMYD5,missense_variant,p.His86Arg,ENST00000443900,;SMYD5,non_coding_transcript_exon_variant,,ENST00000491204,;SMYD5,non_coding_transcript_exon_variant,,ENST00000474652,;SMYD5,3_prime_UTR_variant,,ENST00000413491,;SMYD5,3_prime_UTR_variant,,ENST00000258100,;SMYD5,upstream_gene_variant,,ENST00000477038,;	383	31	28	SUCCESS
SLC9C1	285335	.	GRCh37	3	111996688	111996688	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776449068	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	24	114	0	ENST00000305815.5:c.338C>T	p.Pro113Leu	p.P113L	ENST00000305815	NM_183061.1	113	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33817.1	338	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGGAATT	BUFFER|p.S111L|c.332C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Pfam_domain:PF00999	.	.	ENSP00000306627	.	5/29	.	.	.	.	.	.	.	.	rs776449068	5/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Pro113Leu,ENST00000487372,;SLC9C1,missense_variant,p.Pro113Leu,ENST00000305815,;SLC9C1,missense_variant,p.Pro40Leu,ENST00000486574,;SLC9C1,downstream_gene_variant,,ENST00000467397,;SLC9C1,missense_variant,p.Pro113Leu,ENST00000471295,;	591	114	195	SUCCESS
TIGIT	201633	.	GRCh37	3	114018501	114018501	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	28	0	ENST00000383671.3:c.449T>C	p.Leu150Pro	p.L150P	ENST00000383671	NM_173799.3	150	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS2980.1	449	RADIA|MUTECT|VARSCANS	.	GACGCTGGTGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF62	.	.	ENSP00000419085	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000486257	Transcript	.	.	ENSG00000181847	26838	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.085)	.	tolerated(0.06)	.	TIGIT_HUMAN	TIGIT	HGNC	C9JZW6_HUMAN,C9J0B0_HUMAN	.	UPI000013F7B8	SNV	TIGIT,missense_variant,p.Leu129Pro,ENST00000461158,;TIGIT,missense_variant,p.Leu150Pro,ENST00000383671,;TIGIT,missense_variant,p.Leu129Pro,ENST00000484319,;TIGIT,missense_variant,p.Leu150Pro,ENST00000486257,;TIGIT,missense_variant,p.Leu217Pro,ENST00000481065,;TIGIT,downstream_gene_variant,,ENST00000485814,;	706	28	29	SUCCESS
KBTBD12	166348	.	GRCh37	3	127642837	127642838	+	inframe_insertion	In_Frame_Ins	INS	-	-	TCA	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	25	92	0	ENST00000405109.1:c.936_938dup	p.Ser313dup	p.S313dup	ENST00000405109		313	-/TCA	0	.	.	.	.	.	TCA	-/S	protein_coding	YES	CCDS33848.2	933-934	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCATCTCATC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000385957	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000405109	Transcript	.	.	ENSG00000187715	25731	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KBTBC_HUMAN	KBTBD12	HGNC	B5MCZ4_HUMAN	.	UPI00001D802F	insertion	KBTBD12,inframe_insertion,p.Ser313dup,ENST00000405256,;KBTBD12,inframe_insertion,p.Ser313dup,ENST00000405109,;KBTBD12,intron_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;	1400-1401	92	137	SUCCESS
CHST2	9435	.	GRCh37	3	142841015	142841015	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	78	0	ENST00000309575.3:c.1357C>T	p.Gln453Ter	p.Q453*	ENST00000309575	NM_004267.4	453	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3129.1	1357	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCAGTTT	NONE	.	.	hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	.	.	ENSP00000307911	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309575	Transcript	.	.	ENSG00000175040	1970	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHST2_HUMAN	CHST2	HGNC	.	.	UPI0000073CBC	SNV	CHST2,stop_gained,p.Gln453Ter,ENST00000309575,;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	2741	78	57	SUCCESS
MCF2L2	23101	.	GRCh37	3	183145765	183145765	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	38	0	ENST00000328913.3:c.1A>G	p.Met1?	p.M1?	ENST00000328913	NM_015078.2	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS3243.1	1	RADIA|VARSCANS	.	CAGCATTTCAC	NONE	.	.	.	.	.	ENSP00000328118	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.06)	.	deleterious_low_confidence(0)	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,start_lost,p.Met1?,ENST00000414362,;MCF2L2,start_lost,p.Met1?,ENST00000473233,;MCF2L2,start_lost,p.Met1?,ENST00000447025,;MCF2L2,start_lost,p.Met1?,ENST00000328913,;MCF2L2,intron_variant,,ENST00000482017,;	299	38	41	SUCCESS
EFHB	151651	.	GRCh37	3	19962061	19962061	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	43	0	ENST00000295824.9:c.790-2A>G		p.X264_splice	ENST00000295824	NM_144715.3	264		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33715.2	.	RADIA|VARSCANS	.	CTGCCTTTGGG	NONE	.	.	.	.	.	ENSP00000295824	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295824	Transcript	.	.	ENSG00000163576	26330	.	.	HIGH	1/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFHB_HUMAN	EFHB	HGNC	.	.	UPI0000209A4C	SNV	EFHB,splice_acceptor_variant,,ENST00000344838,;EFHB,splice_acceptor_variant,,ENST00000295824,;EFHB,splice_acceptor_variant,,ENST00000389256,;EFHB,intron_variant,,ENST00000440022,;EFHB,splice_acceptor_variant,,ENST00000498089,;	.	43	39	SUCCESS
TMEM173	0	.	GRCh37	5	138855911	138855911	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	63	1	ENST00000330794.4:c.1075C>A	p.Gln359Lys	p.Q359K	ENST00000330794	NM_198282.2	359	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS4215.1	1075	RADIA|MUTECT	.	CTCTTGGGACA	NONE	.	.	.	.	.	ENSP00000331288	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000330794	Transcript	.	.	ENSG00000184584	27962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.535)	.	tolerated(0.5)	.	STING_HUMAN	TMEM173	HGNC	J3QTB1_HUMAN	.	UPI000000DC5E	SNV	TMEM173,missense_variant,p.Gln359Lys,ENST00000330794,;AC138517.1,downstream_gene_variant,,ENST00000593907,;TMEM173,downstream_gene_variant,,ENST00000510817,;TMEM173,non_coding_transcript_exon_variant,,ENST00000512606,;TMEM173,downstream_gene_variant,,ENST00000511886,;TMEM173,downstream_gene_variant,,ENST00000515507,;TMEM173,downstream_gene_variant,,ENST00000511850,;TMEM173,non_coding_transcript_exon_variant,,ENST00000509573,;TMEM173,non_coding_transcript_exon_variant,,ENST00000507297,;TMEM173,downstream_gene_variant,,ENST00000503838,;TMEM173,downstream_gene_variant,,ENST00000514119,;TMEM173,downstream_gene_variant,,ENST00000502825,;TMEM173,downstream_gene_variant,,ENST00000502362,;TMEM173,downstream_gene_variant,,ENST00000503287,;	1409	64	52	SUCCESS
DDX4	54514	.	GRCh37	5	55088627	55088627	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	17	0	ENST00000505374.1:c.1461A>G	p.Glu487=	p.E487=	ENST00000505374	NM_024415.2	487	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS3969.1	1461	RADIA|VARSCANS	.	GAGGAAATTCA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF168,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540	.	.	ENSP00000424838	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000505374	Transcript	.	.	ENSG00000152670	18700	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX4_HUMAN	DDX4	HGNC	D6RBL3_HUMAN,D6RAF5_HUMAN	.	UPI00001290D3	SNV	DDX4,synonymous_variant,p.%3D,ENST00000514278,;DDX4,synonymous_variant,p.%3D,ENST00000506511,;DDX4,synonymous_variant,p.%3D,ENST00000353507,;DDX4,synonymous_variant,p.%3D,ENST00000511853,;DDX4,synonymous_variant,p.%3D,ENST00000354991,;DDX4,synonymous_variant,p.%3D,ENST00000505374,;DDX4,3_prime_UTR_variant,,ENST00000503129,;	1553	17	32	SUCCESS
BRD9	65980	.	GRCh37	5	878533	878533	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs756436277	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	48	0	ENST00000467963.1:c.1208C>A	p.Ser403Ter	p.S403*	ENST00000467963	NM_023924.4	403	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS34127.2	1208	RADIA|VARSCANS	.	CGTCCGACTTC	BUFFER|p.M310L|c.928A>T|3,BUFFER|p.M406L|c.1216A>T|3	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4	.	.	ENSP00000419765	.	11/16	.	.	.	.	.	.	.	.	rs756436277	11/16	oxog	ENST00000467963	Transcript	.	.	ENSG00000028310	25818	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRD9_HUMAN	BRD9	HGNC	.	.	UPI000020BEBE	SNV	BRD9,stop_gained,p.Ser403Ter,ENST00000467963,;BRD9,stop_gained,p.Ser307Ter,ENST00000323510,;BRD9,stop_gained,p.Ser287Ter,ENST00000388890,;BRD9,stop_gained,p.Ser350Ter,ENST00000483173,;BRD9,3_prime_UTR_variant,,ENST00000435709,;BRD9,non_coding_transcript_exon_variant,,ENST00000494422,;BRD9,non_coding_transcript_exon_variant,,ENST00000519838,;BRD9,stop_gained,p.Ser24Ter,ENST00000519112,;BRD9,stop_gained,p.Ser8Ter,ENST00000518251,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,3_prime_UTR_variant,,ENST00000466684,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,non_coding_transcript_exon_variant,,ENST00000493082,;BRD9,non_coding_transcript_exon_variant,,ENST00000483234,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;BRD9,non_coding_transcript_exon_variant,,ENST00000475706,;BRD9,upstream_gene_variant,,ENST00000523139,;	1375	48	35	SUCCESS
GCNT2	2651	.	GRCh37	6	10586875	10586875	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	81	1	ENST00000379597.3:c.926-34709G>T		p.*309*	ENST00000379597				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34338.1	.	RADIA|MUSE|VARSCANS	.	CCCAGGGGTGC	NONE	.	.	.	.	.	ENSP00000368917	.	.	.	.	.	.	.	.	.	.	.	.	oxog	ENST00000379597	Transcript	.	.	ENSG00000111846	4204	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GNT2A_HUMAN	GCNT2	HGNC	Q8N7N7_HUMAN,Q08M29_HUMAN	.	UPI000006E705	SNV	GCNT2,missense_variant,p.Gly218Val,ENST00000265012,;GCNT2,intron_variant,,ENST00000495262,;GCNT2,intron_variant,,ENST00000316170,;GCNT2,intron_variant,,ENST00000379597,;GCNT2,intron_variant,,ENST00000410107,;GCNT2,intron_variant,,ENST00000459872,;GCNT2,intron_variant,,ENST00000397423,;GCNT2,intron_variant,,ENST00000489225,;GCNT2,intron_variant,,ENST00000475577,;GCNT2,intron_variant,,ENST00000474518,;GCNT2,intron_variant,,ENST00000489819,;GCNT2,intron_variant,,ENST00000485764,;GCNT2,intron_variant,,ENST00000461400,;	.	82	79	SUCCESS
PDSS2	57107	.	GRCh37	6	107655522	107655522	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	22	0	ENST00000369037.4:c.311A>G	p.Asp104Gly	p.D104G	ENST00000369037	NM_020381.3	104	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5059.1	311	RADIA|VARSCANS	.	AGCTGTCATGT	NONE	.	.	hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF49,Gene3D:1.10.600.10,Superfamily_domains:SSF48576	.	.	ENSP00000358033	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000369037	Transcript	.	.	ENSG00000164494	23041	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.24)	.	tolerated(0.14)	.	DLP1_HUMAN	PDSS2	HGNC	B4DWD3_HUMAN	.	UPI000013E3B4	SNV	PDSS2,missense_variant,p.Asp104Gly,ENST00000453874,;PDSS2,missense_variant,p.Asp104Gly,ENST00000369037,;PDSS2,missense_variant,p.Asp104Gly,ENST00000369031,;	589	22	30	SUCCESS
ROS1	6098	.	GRCh37	6	117632252	117632252	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	14	0	ENST00000368508.3:c.6164A>G	p.Asp2055Gly	p.D2055G	ENST00000368508	NM_002944.2	2055	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5116.1	6164	RADIA|VARSCANS	.	CAAGGTCAACC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000357494	.	39/43	.	.	.	.	.	.	.	.	.	39/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,missense_variant,p.Asp2049Gly,ENST00000368507,;ROS1,missense_variant,p.Asp2055Gly,ENST00000368508,;	6363	14	31	SUCCESS
PTPRK	5796	.	GRCh37	6	128326319	128326319	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	45	0	ENST00000368215.3:c.2401A>G	p.Met801Val	p.M801V	ENST00000368215		801	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS47473.1	2404	RADIA|MUTECT|VARSCANS	.	ATCCATTGCAT	NONE	.	.	hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134	.	.	ENSP00000357196	.	15/31	.	.	.	.	.	.	.	.	.	15/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.036)	.	tolerated(0.44)	.	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	SNV	PTPRK,missense_variant,p.Met45Val,ENST00000415055,;PTPRK,missense_variant,p.Met802Val,ENST00000532331,;PTPRK,missense_variant,p.Met802Val,ENST00000368226,;PTPRK,missense_variant,p.Met801Val,ENST00000368215,;PTPRK,missense_variant,p.Met812Val,ENST00000368207,;PTPRK,missense_variant,p.Met83Val,ENST00000415046,;PTPRK,missense_variant,p.Met802Val,ENST00000368210,;PTPRK,missense_variant,p.Met802Val,ENST00000368227,;PTPRK,missense_variant,p.Met802Val,ENST00000368213,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;PTPRK,non_coding_transcript_exon_variant,,ENST00000531466,;	2629	45	60	SUCCESS
DHX16	8449	.	GRCh37	6	30633483	30633483	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	20	0	ENST00000376442.3:c.694C>A	p.Arg232=	p.R232=	ENST00000376442	NM_001164239.1	232	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4685.1	694	RADIA|SOMATICSNIPER	.	CTCTCGGCGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934	.	.	ENSP00000365625	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	SNV	DHX16,synonymous_variant,p.%3D,ENST00000415603,;DHX16,synonymous_variant,p.%3D,ENST00000376442,;DHX16,upstream_gene_variant,,ENST00000376437,;	890	20	14	SUCCESS
MOCS1	4337	.	GRCh37	6	39877595	39877595	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	18	0	ENST00000340692.5:c.1086G>T	p.Lys362Asn	p.K362N	ENST00000340692		362	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4846.1	1086	RADIA|VARSCANS	.	CGCTTCTTCCT	NONE	.	.	HAMAP:MF_01225_B,hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960,TIGRFAM_domain:TIGR02666,Pfam_domain:PF06463,Gene3D:3.20.20.70	.	.	ENSP00000362282	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000373186	Transcript	.	.	ENSG00000124615	7190	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	MOCS1_HUMAN	MOCS1	HGNC	Q9NP27_HUMAN	.	UPI000006FA21	SNV	MOCS1,missense_variant,p.Lys362Asn,ENST00000425303,;MOCS1,missense_variant,p.Lys362Asn,ENST00000373188,;MOCS1,missense_variant,p.Lys275Asn,ENST00000373195,;MOCS1,missense_variant,p.Lys333Asn,ENST00000373175,;MOCS1,missense_variant,p.Lys362Asn,ENST00000340692,;MOCS1,missense_variant,p.Lys362Asn,ENST00000308559,;MOCS1,missense_variant,p.Lys333Asn,ENST00000432280,;MOCS1,missense_variant,p.Lys362Asn,ENST00000373186,;DAAM2,downstream_gene_variant,,ENST00000538976,;DAAM2,downstream_gene_variant,,ENST00000274867,;DAAM2,downstream_gene_variant,,ENST00000398904,;MOCS1,missense_variant,p.Lys275Asn,ENST00000373181,;MOCS1,downstream_gene_variant,,ENST00000473742,;	1224	18	41	SUCCESS
GPR116	0	.	GRCh37	6	46847716	46847716	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	10	67	0	ENST00000265417.7:c.875del	p.Val292GlyfsTer38	p.V292Gfs*38	ENST00000265417	NM_015234.4	292	gTg/gg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS4919.1	875	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACACACCAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000283296	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000283296	Transcript	.	.	ENSG00000069122	19030	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP116_HUMAN	GPR116	HGNC	.	.	UPI000007075A	deletion	GPR116,frameshift_variant,p.Val292GlyfsTer38,ENST00000265417,;GPR116,frameshift_variant,p.Val292GlyfsTer38,ENST00000283296,;GPR116,frameshift_variant,p.Val292GlyfsTer38,ENST00000362015,;GPR116,intron_variant,,ENST00000456426,;	1164	67	74	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	75	0	ENST00000309268.6:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000309268		432	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4980.1	1295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGTCTGT	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM2151856	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.58)	.	deleterious_low_confidence(0.03)	1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ile,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2287	75	90	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	75	0	ENST00000309268.6:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000309268		432	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4980.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGTCTGTC	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM3162419,COSM3745352	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	deleterious_low_confidence(0)	1,1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ser,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2286	75	92	SUCCESS
CUX1	1523	.	GRCh37	7	101671397	101671397	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143267032	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	69	0	ENST00000292535.7:c.161C>T	p.Ala54Val	p.A54V	ENST00000292535	NM_181552.3	54	gCg/gTg	0	G:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS56498.1	194	RADIA|MUTECT|VARSCANS	.	GGTAGCGCCGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043	.	G:0.0002	ENSP00000353401	.	3/24	.	.	.	.	.	.	.	.	rs143267032,COSM1202703,COSM1202704	3/24	PASS	ENST00000360264	Transcript	.	.	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	unknown(0)	.	deleterious(0.03)	0,1,1	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,missense_variant,p.Ala65Val,ENST00000437600,;CUX1,missense_variant,p.Ala54Val,ENST00000556210,;CUX1,missense_variant,p.Ala54Val,ENST00000549414,;CUX1,missense_variant,p.Ala65Val,ENST00000425244,;CUX1,missense_variant,p.Ala65Val,ENST00000360264,;CUX1,missense_variant,p.Ala28Val,ENST00000393824,;CUX1,missense_variant,p.Ala54Val,ENST00000292535,;CUX1,missense_variant,p.Ala54Val,ENST00000550008,;CUX1,missense_variant,p.Ala54Val,ENST00000546411,;CUX1,missense_variant,p.Ala65Val,ENST00000292538,;CUX1,intron_variant,,ENST00000547394,;CTA-357J21.1,upstream_gene_variant,,ENST00000606465,;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000606749,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,;CUX1,non_coding_transcript_exon_variant,,ENST00000558469,;CUX1,non_coding_transcript_exon_variant,,ENST00000497815,;	214	69	64	SUCCESS
NUP205	23165	.	GRCh37	7	135330244	135330244	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	19	107	0	ENST00000285968.6:c.5712T>G	p.Leu1904=	p.L1904=	ENST00000285968	NM_015135.2	1904	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34759.1	5712	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTTTGGCG	NONE	.	.	hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344	.	.	ENSP00000285968	.	41/43	.	.	.	.	.	.	.	.	.	41/43	PASS	ENST00000285968	Transcript	.	.	ENSG00000155561	18658	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NU205_HUMAN	NUP205	HGNC	Q6P486_HUMAN,Q6DKH1_HUMAN	.	UPI00001D74D8	SNV	NUP205,synonymous_variant,p.%3D,ENST00000285968,;NUP205,non_coding_transcript_exon_variant,,ENST00000461255,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,intron_variant,,ENST00000490439,;NUP205,intron_variant,,ENST00000477620,;NUP205,upstream_gene_variant,,ENST00000491089,;	5738	107	164	SUCCESS
DPP6	1804	.	GRCh37	7	154645528	154645528	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771329138	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	39	136	0	ENST00000377770.3:c.1705G>T	p.Asp569Tyr	p.D569Y	ENST00000377770		569	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	.	1705	RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGATAAG	NONE	byFrequency	.	Superfamily_domains:SSF82171,Gene3D:2.140.10.30,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	17/26	.	.	.	.	.	.	.	.	rs771329138,COSM3636630,COSM3636629,COSM3636628	17/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	benign(0.035)	.	deleterious(0.01)	0,1,1,1	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Asp462Tyr,ENST00000427557,;DPP6,missense_variant,p.Asp569Tyr,ENST00000377770,;DPP6,missense_variant,p.Asp507Tyr,ENST00000332007,;DPP6,missense_variant,p.Asp505Tyr,ENST00000404039,;RP11-476H24.1,intron_variant,,ENST00000448767,;DPP6,non_coding_transcript_exon_variant,,ENST00000493268,;	1846	136	142	SUCCESS
RBM33	155435	.	GRCh37	7	155457902	155457902	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	75	0	ENST00000401878.3:c.77C>G	p.Ala26Gly	p.A26G	ENST00000401878	NM_053043.2	26	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS5941.2	77	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGCGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2	.	.	ENSP00000384160	.	2/18	.	.	.	.	.	.	.	.	COSM3879736,COSM3879735,COSM3879734	2/18	PASS	ENST00000401878	Transcript	.	.	ENSG00000184863	27223	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	unknown(0)	.	deleterious(0)	1,1,1	RBM33_HUMAN	RBM33	HGNC	C9J7M3_HUMAN	.	UPI00015743D7	SNV	RBM33,missense_variant,p.Ala26Gly,ENST00000392759,;RBM33,missense_variant,p.Ala26Gly,ENST00000401878,;RBM33,missense_variant,p.Ala26Gly,ENST00000287912,;	275	76	83	SUCCESS
DNAH11	8701	.	GRCh37	7	21940749	21940749	+	synonymous_variant	Silent	SNP	C	C	T	rs530934832	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	57	0	ENST00000409508.3:c.13428C>T	p.Tyr4476=	p.Y4476=	ENST00000409508	NM_001277115.1	4476	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	.	13449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTACGAGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000330671	.	83/83	.	.	.	.	.	.	.	.	rs530934832,COSM1088462	83/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,synonymous_variant,p.%3D,ENST00000328843,;DNAH11,synonymous_variant,p.%3D,ENST00000409508,;CDCA7L,3_prime_UTR_variant,,ENST00000406877,;CDCA7L,3_prime_UTR_variant,,ENST00000356195,;CDCA7L,downstream_gene_variant,,ENST00000435717,;CDCA7L,downstream_gene_variant,,ENST00000373934,;CDCA7L,downstream_gene_variant,,ENST00000465490,;CDCA7L,non_coding_transcript_exon_variant,,ENST00000488845,;DNAH11,downstream_gene_variant,,ENST00000479878,;CDCA7L,downstream_gene_variant,,ENST00000489669,;	13480	57	39	SUCCESS
PKD1L1	168507	.	GRCh37	7	47937789	47937789	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	28	0	ENST00000289672.2:c.2067A>G	p.Ile689Met	p.I689M	ENST00000289672	NM_138295.3	689	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS34633.1	2067	RADIA|MUTECT|VARSCANS	.	CTCCATATCTA	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,PROSITE_profiles:PS51111	.	.	ENSP00000289672	.	14/57	.	.	.	.	.	.	.	.	.	14/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.184)	.	tolerated(0.06)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Ile689Met,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	2118	28	23	SUCCESS
CRCP	27297	.	GRCh37	7	65617296	65617296	+	synonymous_variant	Silent	SNP	G	G	A	rs771388383	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	37	0	ENST00000395326.3:c.399G>A	p.Lys133=	p.K133=	ENST00000395326	NM_014478.4	133	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS5532.1	399	RADIA|VARSCANS	.	CAGAAGAAGAA	NONE	byFrequency	.	hmmpanther:PTHR15561:SF0,hmmpanther:PTHR15561	.	.	ENSP00000378736	.	6/6	.	.	.	.	.	.	.	.	rs771388383	6/6	PASS	ENST00000395326	Transcript	.	.	ENSG00000241258	17888	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPC9_HUMAN	CRCP	HGNC	.	.	UPI0000128406	SNV	CRCP,synonymous_variant,p.%3D,ENST00000338592,;CRCP,synonymous_variant,p.%3D,ENST00000431089,;CRCP,synonymous_variant,p.%3D,ENST00000398684,;CRCP,synonymous_variant,p.%3D,ENST00000415001,;CRCP,synonymous_variant,p.%3D,ENST00000395326,;AC068533.7,downstream_gene_variant,,ENST00000450043,;RP5-1132H15.1,intron_variant,,ENST00000435524,;CRCP,non_coding_transcript_exon_variant,,ENST00000492264,;CRCP,3_prime_UTR_variant,,ENST00000360415,;	757	37	30	SUCCESS
TMEM243	79161	.	GRCh37	7	86826043	86826043	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766468075	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	25	0	ENST00000257637.3:c.266C>T	p.Pro89Leu	p.P89L	ENST00000257637	NM_024315.2	89	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5602.1	266	MUTECT|VARSCANS	.	ATTTCGGTTCT	NONE	byFrequency	.	Pfam_domain:PF10856	.	.	ENSP00000398083	.	5/5	.	.	.	.	.	.	.	.	rs766468075	5/5	PASS	ENST00000433078	Transcript	.	.	ENSG00000135185	21707	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	TM243_HUMAN	TMEM243	HGNC	.	.	UPI0000073B91	SNV	TMEM243,missense_variant,p.Pro89Leu,ENST00000257637,;TMEM243,missense_variant,p.Pro89Leu,ENST00000433078,;DMTF1,downstream_gene_variant,,ENST00000394703,;DMTF1,downstream_gene_variant,,ENST00000414194,;DMTF1,downstream_gene_variant,,ENST00000454008,;DMTF1,downstream_gene_variant,,ENST00000432937,;TMEM243,downstream_gene_variant,,ENST00000423734,;DMTF1,downstream_gene_variant,,ENST00000413276,;DMTF1,downstream_gene_variant,,ENST00000331242,;DMTF1,downstream_gene_variant,,ENST00000582204,;TMEM243,non_coding_transcript_exon_variant,,ENST00000481425,;TMEM243,downstream_gene_variant,,ENST00000465976,;TMEM243,downstream_gene_variant,,ENST00000492231,;DMTF1,downstream_gene_variant,,ENST00000580010,;DMTF1,downstream_gene_variant,,ENST00000447863,;DMTF1,downstream_gene_variant,,ENST00000480982,;DMTF1,downstream_gene_variant,,ENST00000412139,;TMEM243,downstream_gene_variant,,ENST00000474074,;DMTF1,downstream_gene_variant,,ENST00000580803,;DMTF1,downstream_gene_variant,,ENST00000579677,;DMTF1,downstream_gene_variant,,ENST00000579850,;DMTF1,downstream_gene_variant,,ENST00000425406,;DMTF1,downstream_gene_variant,,ENST00000488352,;DMTF1,downstream_gene_variant,,ENST00000547146,;	708	25	44	SUCCESS
PABPC1	26986	.	GRCh37	8	101718907	101718907	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	13	78	0	ENST00000318607.5:c.1574A>G	p.Asn525Ser	p.N525S	ENST00000318607	NM_002568.3	525	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS6289.1	1574	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATTAAGA	NONE	.	.	hmmpanther:PTHR24011:SF239,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628,Superfamily_domains:SSF63570	.	.	ENSP00000313007	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000318607	Transcript	.	.	ENSG00000070756	8554	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.87)	.	PABP1_HUMAN	PABPC1	HGNC	H0YB75_HUMAN,E7EQV3_HUMAN,E5RJM8_HUMAN,E5RJB9_HUMAN,E5RHG7_HUMAN,E5RH24_HUMAN,E5RGH3_HUMAN,E5RGC4_HUMAN,E5RFD8_HUMAN	.	UPI0000000BC4	SNV	PABPC1,missense_variant,p.Asn178Ser,ENST00000517403,;PABPC1,missense_variant,p.Asn480Ser,ENST00000519004,;PABPC1,missense_variant,p.Asn493Ser,ENST00000522387,;PABPC1,missense_variant,p.Asn58Ser,ENST00000520868,;PABPC1,missense_variant,p.Asn72Ser,ENST00000522658,;PABPC1,missense_variant,p.Asn34Ser,ENST00000517990,;PABPC1,missense_variant,p.Asn525Ser,ENST00000318607,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000519100,;AP001205.1,downstream_gene_variant,,ENST00000579868,;PABPC1,downstream_gene_variant,,ENST00000519596,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519848,;PABPC1,intron_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000519622,;PABPC1,downstream_gene_variant,,ENST00000518716,;	2703	78	116	SUCCESS
ZNF395	55893	.	GRCh37	8	28218433	28218433	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	31	0	ENST00000344423.5:c.209T>C	p.Leu70Pro	p.L70P	ENST00000344423	NM_018660.2	70	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6067.1	209	RADIA|MUTECT|VARSCANS	.	GCTGAAGGCCC	NONE	.	.	hmmpanther:PTHR13006:SF6,hmmpanther:PTHR13006	.	.	ENSP00000340494	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000344423	Transcript	.	.	ENSG00000186918	18737	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.27)	.	ZN395_HUMAN	ZNF395	HGNC	E5RH90_HUMAN,E5RGF1_HUMAN,E5RG59_HUMAN,E5RFV4_HUMAN	.	UPI0000073F08	SNV	ZNF395,missense_variant,p.Leu70Pro,ENST00000520290,;ZNF395,missense_variant,p.Leu70Pro,ENST00000344423,;ZNF395,missense_variant,p.Leu70Pro,ENST00000521185,;ZNF395,missense_variant,p.Leu70Pro,ENST00000522795,;ZNF395,missense_variant,p.Leu70Pro,ENST00000521912,;ZNF395,missense_variant,p.Leu70Pro,ENST00000523202,;ZNF395,missense_variant,p.Leu70Pro,ENST00000523095,;ZNF395,downstream_gene_variant,,ENST00000517459,;ZNF395,downstream_gene_variant,,ENST00000519730,;FBXO16,3_prime_UTR_variant,,ENST00000521548,;	341	31	19	SUCCESS
COL15A1	1306	.	GRCh37	9	101829192	101829192	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs747424432	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	41	0	ENST00000375001.3:c.3680T>C	p.Phe1227Ser	p.F1227S	ENST00000375001	NM_001855.4	1227	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS35081.1	3680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATTTTCTG	NONE	byFrequency	.	hmmpanther:PTHR24023:SF398,hmmpanther:PTHR24023,Pfam_domain:PF06482,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	.	.	ENSP00000364140	.	40/42	.	.	.	.	.	.	.	.	rs747424432	40/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	deleterious(0.03)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Phe1227Ser,ENST00000375001,;	4103	41	39	SUCCESS
C9orf152	401546	.	GRCh37	9	112963511	112963511	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	121	0	ENST00000400613.4:c.437G>A	p.Gly146Glu	p.G146E	ENST00000400613	NM_001012993.2	146	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS35102.2	437	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGATCCCACA	NONE	.	.	.	.	.	ENSP00000383456	.	2/2	.	.	.	.	.	.	.	.	COSM3925882,COSM3925881	2/2	PASS	ENST00000400613	Transcript	.	.	ENSG00000188959	31455	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.063)	.	tolerated(0.36)	1,1	CI152_HUMAN	C9orf152	HGNC	A8K2L3_HUMAN	.	UPI00016278ED	SNV	C9orf152,missense_variant,p.Gly146Glu,ENST00000400613,;C9orf152,intron_variant,,ENST00000473442,;	1047	121	94	SUCCESS
OR1K1	392392	.	GRCh37	9	125563002	125563002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	48	0	ENST00000277309.2:c.601T>C	p.Phe201Leu	p.F201L	ENST00000277309	NM_080859.1	201	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS35132.1	601	MUTECT|VARSCANS	.	TCATCTTCACC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000277309	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000277309	Transcript	.	.	ENSG00000165204	8212	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.039)	.	tolerated(0.79)	.	OR1K1_HUMAN	OR1K1	HGNC	.	.	UPI000004B1FE	SNV	OR1K1,missense_variant,p.Phe201Leu,ENST00000277309,;PDCL,intron_variant,,ENST00000436632,;	633	48	39	SUCCESS
PTPDC1	138639	.	GRCh37	9	96870207	96870207	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777021224	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	9	63	0	ENST00000375360.3:c.2246G>A	p.Gly749Asp	p.G749D	ENST00000375360	NM_001253830.1	749	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS6708.1	2402	MUTECT|MUSE|VARSCANS	.	AGATGGCCCTA	NONE	.	.	.	.	.	ENSP00000288976	.	9/9	.	.	.	.	.	.	.	.	rs777021224	9/9	PASS	ENST00000288976	Transcript	.	.	ENSG00000158079	30184	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.062)	.	tolerated_low_confidence(0.2)	.	PTPC1_HUMAN	PTPDC1	HGNC	.	.	UPI000004DC48	SNV	PTPDC1,missense_variant,p.Gly801Asp,ENST00000288976,;PTPDC1,missense_variant,p.Gly749Asp,ENST00000375360,;PTPDC1,downstream_gene_variant,,ENST00000467049,;	2469	63	114	SUCCESS
FATE1	89885	.	GRCh37	X	150884676	150884676	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	44	0	ENST00000370350.3:c.85C>A	p.Gln29Lys	p.Q29K	ENST00000370350	NM_033085.2	29	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS14700.1	85	RADIA|VARSCANS	.	AAAACCAAGAG	NONE	.	.	Pfam_domain:PF05644,hmmpanther:PTHR21128	.	.	ENSP00000359375	.	1/5	.	.	.	.	.	.	.	.	COSM1117023	1/5	PASS	ENST00000370350	Transcript	.	.	ENSG00000147378	24683	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.935)	.	deleterious(0.03)	1	FATE1_HUMAN	FATE1	HGNC	.	.	UPI0000073DB2	SNV	FATE1,missense_variant,p.Gln21Lys,ENST00000417321,;FATE1,missense_variant,p.Gln29Lys,ENST00000370350,;	170	44	34	SUCCESS
BCAP31	10134	.	GRCh37	X	152986434	152986434	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	rs1180153884	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	14	0	ENST00000345046.6:c.93-7T>C		p.X31_splice	ENST00000345046	NM_001256447.1	31		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS48191.1	.	RADIA|VARSCANS	.	TGTGAAGAAGA	NONE	.	.	.	.	.	ENSP00000392330	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458587	Transcript	.	.	ENSG00000185825	16695	.	.	LOW	2/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAP31_HUMAN	BCAP31	HGNC	C9JSP1_HUMAN,C9JQ75_HUMAN,C9JMD7_HUMAN,C9JM14_HUMAN,C9J0M4_HUMAN	.	UPI00001A8439	SNV	BCAP31,splice_region_variant,,ENST00000430088,;BCAP31,splice_region_variant,,ENST00000423827,;BCAP31,splice_region_variant,,ENST00000429550,;BCAP31,splice_region_variant,,ENST00000458587,;BCAP31,splice_region_variant,,ENST00000442093,;BCAP31,splice_region_variant,,ENST00000441714,;BCAP31,splice_region_variant,,ENST00000416815,;BCAP31,splice_region_variant,,ENST00000345046,;ABCD1,upstream_gene_variant,,ENST00000370129,;ABCD1,upstream_gene_variant,,ENST00000218104,;BCAP31,non_coding_transcript_exon_variant,,ENST00000468947,;	.	14	16	SUCCESS
AKAP17A	8227	.	GRCh37	X	1712870	1712870	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	38	0	ENST00000313871.3:c.515A>G	p.Asp172Gly	p.D172G	ENST00000313871	NM_005088.2	172	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS14116.1	515	RADIA|VARSCANS	.	CGAGGACGTCC	NONE	.	.	hmmpanther:PTHR12484:SF2,hmmpanther:PTHR12484,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000324827	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000313871	Transcript	.	.	ENSG00000197976	18783	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.547)	.	tolerated(0.06)	.	AK17A_HUMAN	AKAP17A	HGNC	.	.	UPI00001AF072	SNV	AKAP17A,missense_variant,p.Asp172Gly,ENST00000381261,;AKAP17A,missense_variant,p.Asp172Gly,ENST00000313871,;AKAP17A,missense_variant,p.Asp172Gly,ENST00000474361,;	711	38	42	SUCCESS
ASB12	142689	.	GRCh37	X	63445128	63445128	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	42	0	ENST00000362002.2:c.403A>G	p.Ser135Gly	p.S135G	ENST00000362002	NM_130388.3	135	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS14378.2	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCTACCAC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24120,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000355195	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362002	Transcript	.	.	ENSG00000198881	19763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	ASB12_HUMAN	ASB12	HGNC	.	.	UPI000013DA93	SNV	ASB12,missense_variant,p.Ser126Gly,ENST00000396130,;MTMR8,missense_variant,p.Ser510Gly,ENST00000453546,;ASB12,missense_variant,p.Ser135Gly,ENST00000362002,;	596	42	43	SUCCESS
KDM5D	8284	.	GRCh37	Y	21897301	21897301	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	36	0	ENST00000317961.4:c.870G>A	p.Leu290=	p.L290=	ENST00000317961	NM_004653.4	290	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14794.1	870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCAAGTG	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF31	.	.	ENSP00000322408	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000317961	Transcript	.	.	ENSG00000012817	11115	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM5D_HUMAN	KDM5D	HGNC	.	.	UPI0000135A93	SNV	KDM5D,synonymous_variant,p.%3D,ENST00000382806,;KDM5D,synonymous_variant,p.%3D,ENST00000440077,;KDM5D,synonymous_variant,p.%3D,ENST00000317961,;KDM5D,synonymous_variant,p.%3D,ENST00000447300,;KDM5D,synonymous_variant,p.%3D,ENST00000541639,;	1142	36	65	SUCCESS
SEPHS1	22929	.	GRCh37	10	13371747	13371747	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	30	0	ENST00000327347.5:c.602A>G	p.Lys201Arg	p.K201R	ENST00000327347	NM_012247.4	201	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS7098.1	602	RADIA|VARSCANS	.	GGGGTTTTGTC	NONE	.	.	Superfamily_domains:SSF56042,PIRSF_domain:PIRSF036407,Pfam_domain:PF02769,TIGRFAM_domain:TIGR00476,hmmpanther:PTHR10256,hmmpanther:PTHR10256:SF2	.	.	ENSP00000367893	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000327347	Transcript	.	.	ENSG00000086475	19685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SPS1_HUMAN	SEPHS1	HGNC	Q5T5U7_HUMAN,Q5T5U6_HUMAN	.	UPI0000135E82	SNV	SEPHS1,missense_variant,p.Lys201Arg,ENST00000545675,;SEPHS1,missense_variant,p.Lys201Arg,ENST00000378614,;SEPHS1,missense_variant,p.Lys134Arg,ENST00000537130,;SEPHS1,missense_variant,p.Lys201Arg,ENST00000327347,;SEPHS1,downstream_gene_variant,,ENST00000425947,;SEPHS1,downstream_gene_variant,,ENST00000413411,;	978	30	34	SUCCESS
MTG1	92170	.	GRCh37	10	135211954	135211954	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	37	0	ENST00000317502.6:c.298T>C	p.Leu100=	p.L100=	ENST00000317502	NM_138384.2	100	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31320.1	298	RADIA|VARSCANS	.	AACACTTAGAA	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF006230,TIGRFAM_domain:TIGR03596,Gene3D:3.40.50.300,hmmpanther:PTHR11089:SF4,hmmpanther:PTHR11089,PROSITE_profiles:PS51721	.	.	ENSP00000323047	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000317502	Transcript	.	.	ENSG00000148824	32159	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTG1_HUMAN	MTG1	HGNC	U3KQ69_HUMAN	.	UPI00004588B9	SNV	MTG1,synonymous_variant,p.%3D,ENST00000317502,;RP11-108K14.8,synonymous_variant,p.%3D,ENST00000468317,;MTG1,synonymous_variant,p.%3D,ENST00000477902,;MTG1,synonymous_variant,p.%3D,ENST00000432508,;MTG1,non_coding_transcript_exon_variant,,ENST00000460848,;MTG1,non_coding_transcript_exon_variant,,ENST00000473735,;MTG1,non_coding_transcript_exon_variant,,ENST00000498790,;MTG1,non_coding_transcript_exon_variant,,ENST00000495014,;MTG1,upstream_gene_variant,,ENST00000492266,;	348	37	37	SUCCESS
FAM171A1	221061	.	GRCh37	10	15255747	15255747	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	76	0	ENST00000378116.4:c.1840C>T	p.Leu614=	p.L614=	ENST00000378116	NM_001010924.1	614	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31154.1	1840	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAGTCTTT	NONE	.	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	.	ENSP00000367356	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,synonymous_variant,p.%3D,ENST00000378116,;FAM171A1,downstream_gene_variant,,ENST00000477161,;	1847	76	58	SUCCESS
WDFY4	57705	.	GRCh37	10	49983837	49983837	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	34	0	ENST00000325239.5:c.2849A>G	p.Asn950Ser	p.N950S	ENST00000325239	NM_020945.1	950	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS44385.1	2849	RADIA|MUTECT|VARSCANS	.	AGGCAACCCTG	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	14/61	.	.	.	.	.	.	.	.	.	14/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Asn950Ser,ENST00000413659,;WDFY4,missense_variant,p.Asn950Ser,ENST00000325239,;	2876	34	50	SUCCESS
HERC4	26091	.	GRCh37	10	69726472	69726472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	108	0	ENST00000395198.3:c.1894A>G	p.Ile632Val	p.I632V	ENST00000395198	NM_022079.2	632	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS41533.1	1894	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATATAAT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF290	.	.	ENSP00000378624	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000395198	Transcript	.	.	ENSG00000148634	24521	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.65)	.	HERC4_HUMAN	HERC4	HGNC	D6RFK9_HUMAN	.	UPI00004C6F56	SNV	HERC4,missense_variant,p.Ile632Val,ENST00000373700,;HERC4,missense_variant,p.Ile522Val,ENST00000277817,;HERC4,missense_variant,p.Ile632Val,ENST00000412272,;HERC4,missense_variant,p.Ile632Val,ENST00000395198,;HERC4,3_prime_UTR_variant,,ENST00000395187,;AL356741.1,downstream_gene_variant,,ENST00000408232,;HERC4,3_prime_UTR_variant,,ENST00000473533,;HERC4,3_prime_UTR_variant,,ENST00000427635,;HERC4,non_coding_transcript_exon_variant,,ENST00000460168,;	2142	108	89	SUCCESS
UBASH3B	84959	.	GRCh37	11	122659905	122659905	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	32	0	ENST00000284273.5:c.869G>A	p.Ser290Asn	p.S290N	ENST00000284273	NM_032873.4	290	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS31694.1	869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGCACCA	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,Pfam_domain:PF14604,hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24,PROSITE_profiles:PS50002	.	.	ENSP00000284273	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000284273	Transcript	.	.	ENSG00000154127	29884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.3)	.	UBS3B_HUMAN	UBASH3B	HGNC	.	.	UPI0000047471	SNV	UBASH3B,missense_variant,p.Ser290Asn,ENST00000284273,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000529998,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000526493,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000530917,;	1244	32	38	SUCCESS
BDNF	627	.	GRCh37	11	27695800	27695800	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	40	0	ENST00000356660.4:c.-21-15668G>T		p.*7*	ENST00000356660	NM_001709.4	11		0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS44558.1	32	RADIA|VARSCANS	.	TTGTGCACTCA	NONE	.	.	.	.	.	ENSP00000414303	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000438929	Transcript	.	.	ENSG00000176697	1033	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.506)	.	deleterious_low_confidence(0)	.	BDNF_HUMAN	BDNF	HGNC	S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN	.	UPI0001594492	SNV	BDNF,missense_variant,p.Cys11Phe,ENST00000438929,;BDNF,5_prime_UTR_variant,,ENST00000420794,;BDNF,intron_variant,,ENST00000533131,;BDNF,intron_variant,,ENST00000356660,;BDNF,intron_variant,,ENST00000532997,;BDNF,intron_variant,,ENST00000395981,;BDNF,intron_variant,,ENST00000418212,;BDNF,intron_variant,,ENST00000395983,;BDNF,intron_variant,,ENST00000395980,;BDNF,intron_variant,,ENST00000525950,;BDNF,intron_variant,,ENST00000395978,;BDNF,intron_variant,,ENST00000395986,;BDNF,intron_variant,,ENST00000530861,;BDNF,intron_variant,,ENST00000314915,;BDNF,intron_variant,,ENST00000533246,;BDNF-AS,intron_variant,,ENST00000502161,;BDNF-AS,intron_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000501663,;BDNF-AS,intron_variant,,ENST00000499008,;BDNF-AS,intron_variant,,ENST00000501176,;BDNF-AS,intron_variant,,ENST00000499568,;BDNF-AS,intron_variant,,ENST00000500662,;BDNF,intron_variant,,ENST00000584049,;BDNF,missense_variant,p.Cys11Phe,ENST00000530786,;	173	40	34	SUCCESS
C11orf96	387763	.	GRCh37	11	43964686	43964686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	37	0	ENST00000339446.3:c.1171A>G	p.Lys391Glu	p.K391E	ENST00000339446		391	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	.	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGAAGGCC	NONE	.	.	.	.	.	ENSP00000340667	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339446	Transcript	.	.	ENSG00000187479	38675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious_low_confidence(0)	.	CK096_HUMAN	C11orf96	HGNC	.	.	UPI0000DD807F	SNV	C11orf96,missense_variant,p.Glu194Gly,ENST00000528572,;C11orf96,missense_variant,p.Lys391Glu,ENST00000339446,;RP11-613D13.8,downstream_gene_variant,,ENST00000501541,;RP11-613D13.4,intron_variant,,ENST00000526408,;	1171	37	27	SUCCESS
FNBP4	23360	.	GRCh37	11	47745708	47745708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	50	0	ENST00000263773.5:c.2336C>T	p.Thr779Ile	p.T779I	ENST00000263773	NM_015308.2	779	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41644.1	2336	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGTGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186	.	.	ENSP00000263773	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000263773	Transcript	.	.	ENSG00000109920	19752	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.05)	.	FNBP4_HUMAN	FNBP4	HGNC	.	.	UPI0000DBEF37	SNV	FNBP4,missense_variant,p.Thr779Ile,ENST00000263773,;snoU13,upstream_gene_variant,,ENST00000516638,;Y_RNA,downstream_gene_variant,,ENST00000363220,;FNBP4,non_coding_transcript_exon_variant,,ENST00000532646,;FNBP4,non_coding_transcript_exon_variant,,ENST00000526109,;FNBP4,downstream_gene_variant,,ENST00000531394,;FNBP4,downstream_gene_variant,,ENST00000525792,;FNBP4,non_coding_transcript_exon_variant,,ENST00000530207,;	2349	50	47	SUCCESS
BEST1	7439	.	GRCh37	11	61723374	61723376	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	CAC	CAC	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	23	0	ENST00000378043.4:c.433_435del	p.Thr145del	p.T145del	ENST00000378043	NM_004183.3	144	agCACc/agc	0	.	.	.	.	.	-	ST/S	protein_coding	YES	CCDS44623.1	252-254	INDELOCATOR|VARSCANI	.	CGTCAGCACCGCAG	NONE	.	.	hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF4,Pfam_domain:PF01062	.	.	ENSP00000399709	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000449131	Transcript	.	.	ENSG00000167995	12703	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BEST1_HUMAN	BEST1	HGNC	G8JLA7_HUMAN	.	UPI0000232791	deletion	BEST1,inframe_deletion,p.Thr85del,ENST00000378042,;BEST1,inframe_deletion,p.Thr145del,ENST00000378043,;BEST1,inframe_deletion,p.Thr145del,ENST00000435278,;BEST1,inframe_deletion,p.Thr85del,ENST00000449131,;BEST1,inframe_deletion,p.Thr39del,ENST00000526988,;BEST1,inframe_deletion,p.Thr39del,ENST00000534553,;BEST1,5_prime_UTR_variant,,ENST00000301774,;FTH1,downstream_gene_variant,,ENST00000529631,;FTH1,downstream_gene_variant,,ENST00000530019,;FTH1,downstream_gene_variant,,ENST00000529191,;BEST1,inframe_deletion,p.Thr145del,ENST00000524926,;BEST1,non_coding_transcript_exon_variant,,ENST00000529265,;BEST1,non_coding_transcript_exon_variant,,ENST00000524877,;BEST1,non_coding_transcript_exon_variant,,ENST00000533521,;	338-340	23	30	SUCCESS
INCENP	3619	.	GRCh37	11	61914204	61914204	+	synonymous_variant	Silent	SNP	G	G	T	rs536991463	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	31	0	ENST00000394818.3:c.2034G>T	p.Ala678=	p.A678=	ENST00000394818	NM_001040694.1	678	gcG/gcT	0	.	A:0.0015	.	A:0.0014	.	T	A	protein_coding	YES	CCDS44624.1	2034	RADIA|VARSCANS	.	AAGGCGGCCGA	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142,hmmpanther:PTHR13142:SF1	A:0	.	ENSP00000378295	A:0	15/19	.	.	.	.	.	.	.	.	rs536991463	15/19	oxog	ENST00000394818	Transcript	.	A:0.0006	ENSG00000149503	6058	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	INCE_HUMAN	INCENP	HGNC	E9PM67_HUMAN	.	UPI0000D7D6F3	SNV	INCENP,synonymous_variant,p.%3D,ENST00000278849,;INCENP,synonymous_variant,p.%3D,ENST00000394818,;INCENP,downstream_gene_variant,,ENST00000528375,;	2236	31	26	SUCCESS
SLC22A25	387601	.	GRCh37	11	62997040	62997040	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370074611	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	46	0	ENST00000306494.6:c.85G>T	p.Val29Phe	p.V29F	ENST00000306494	NM_199352.3	29	Gtc/Ttc	0	T:0	T:0.0008	.	T:0	.	A	V/F	protein_coding	YES	CCDS31592.1	85	RADIA|VARSCANS	.	TATGACGTTGA	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185	T:0	T:0.0001	ENSP00000307443	T:0	1/9	.	.	.	.	.	.	.	.	rs370074611,COSM3967710	1/9	oxog	ENST00000306494	Transcript	.	T:0.0002	ENSG00000196600	32935	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.016)	T:0	tolerated(0.18)	0,1	S22AP_HUMAN	SLC22A25	HGNC	.	.	UPI00001A72A5	SNV	SLC22A25,missense_variant,p.Val29Phe,ENST00000306494,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A25,upstream_gene_variant,,ENST00000403374,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A25,missense_variant,p.Val28Phe,ENST00000527057,;SLC22A25,missense_variant,p.Val29Phe,ENST00000528239,;SLC22A25,missense_variant,p.Val29Phe,ENST00000525295,;	85	46	51	SUCCESS
RIN1	9610	.	GRCh37	11	66101485	66101485	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	35	0	ENST00000311320.4:c.1496T>C	p.Leu499Pro	p.L499P	ENST00000311320	NM_004292.2	499	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31614.1	1496	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGCTTC	NONE	.	.	PROSITE_profiles:PS51205,hmmpanther:PTHR23101:SF54,hmmpanther:PTHR23101,Pfam_domain:PF02204,SMART_domains:SM00167,Superfamily_domains:0044157	.	.	ENSP00000310406	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000311320	Transcript	.	.	ENSG00000174791	18749	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RIN1_HUMAN	RIN1	HGNC	.	.	UPI000013F14D	SNV	RIN1,missense_variant,p.Leu499Pro,ENST00000311320,;RIN1,missense_variant,p.Leu394Pro,ENST00000424433,;RIN1,missense_variant,p.Leu333Pro,ENST00000530056,;BRMS1,downstream_gene_variant,,ENST00000359957,;BRMS1,downstream_gene_variant,,ENST00000524699,;BRMS1,downstream_gene_variant,,ENST00000530756,;BRMS1,downstream_gene_variant,,ENST00000425825,;RP11-867G23.12,upstream_gene_variant,,ENST00000526655,;RIN1,upstream_gene_variant,,ENST00000524804,;RIN1,3_prime_UTR_variant,,ENST00000534824,;RIN1,3_prime_UTR_variant,,ENST00000530745,;RIN1,non_coding_transcript_exon_variant,,ENST00000526246,;BRMS1,downstream_gene_variant,,ENST00000530238,;RIN1,downstream_gene_variant,,ENST00000528006,;BRMS1,downstream_gene_variant,,ENST00000527375,;	1623	35	46	SUCCESS
B3GNT1	0	.	GRCh37	11	66114249	66114249	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	13	0	ENST00000311181.4:c.768G>T	p.Val256=	p.V256=	ENST00000311181	NM_006876.2	256	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8136.1	768	RADIA|VARSCANS	.	GGCACCACCAG	NONE	.	.	hmmpanther:PTHR12270:SF20,hmmpanther:PTHR12270,Pfam_domain:PF13896	.	.	ENSP00000309096	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000311181	Transcript	.	.	ENSG00000174684	15685	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3GN1_HUMAN	B3GNT1	HGNC	B4DGI0_HUMAN	.	UPI00000358A1	SNV	B3GNT1,synonymous_variant,p.%3D,ENST00000311181,;BRMS1,upstream_gene_variant,,ENST00000359957,;BRMS1,upstream_gene_variant,,ENST00000524699,;RP11-867G23.8,upstream_gene_variant,,ENST00000531602,;BRMS1,upstream_gene_variant,,ENST00000530756,;BRMS1,upstream_gene_variant,,ENST00000425825,;RP11-867G23.8,upstream_gene_variant,,ENST00000581155,;RP11-867G23.8,upstream_gene_variant,,ENST00000580881,;BRMS1,upstream_gene_variant,,ENST00000529544,;BRMS1,upstream_gene_variant,,ENST00000530238,;BRMS1,upstream_gene_variant,,ENST00000534617,;BRMS1,upstream_gene_variant,,ENST00000527375,;BRMS1,upstream_gene_variant,,ENST00000525127,;	915	13	26	SUCCESS
TYR	7299	.	GRCh37	11	88911570	88911570	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	47	0	ENST00000263321.5:c.449T>A	p.Val150Asp	p.V150D	ENST00000263321	NM_000372.4	150	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS8284.1	449	RADIA|VARSCANS	.	CTATGTCATCC	NONE	.	.	hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16,Gene3D:1.10.1280.10,Superfamily_domains:SSF48056	.	.	ENSP00000263321	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000263321	Transcript	.	.	ENSG00000077498	12442	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TYRO_HUMAN	TYR	HGNC	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN	.	UPI000004441A	SNV	TYR,missense_variant,p.Val150Asp,ENST00000263321,;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;	951	47	36	SUCCESS
RIC8B	55188	.	GRCh37	12	107254187	107254187	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	48	0	ENST00000392839.2:c.1448C>A	p.Pro483Gln	p.P483Q	ENST00000392839	NM_018157.2	483	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS9109.2	1448	RADIA|MUTECT|VARSCANS	.	AAAACCAAAGT	NONE	.	.	Prints_domain:PR01802,Pfam_domain:PF10165,hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF2	.	.	ENSP00000376583	.	8/9	.	.	.	.	.	.	.	.	COSM1358450	8/9	PASS	ENST00000392839	Transcript	.	.	ENSG00000111785	25555	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(1)	.	deleterious(0)	1	RIC8B_HUMAN	RIC8B	HGNC	F8VR30_HUMAN	.	UPI00001FB46B	SNV	RIC8B,missense_variant,p.Pro443Gln,ENST00000355478,;RIC8B,missense_variant,p.Pro483Gln,ENST00000392839,;RIC8B,missense_variant,p.Pro483Gln,ENST00000392837,;RIC8B,5_prime_UTR_variant,,ENST00000549643,;RIC8B,downstream_gene_variant,,ENST00000548914,;RIC8B,missense_variant,p.Pro483Gln,ENST00000462949,;RIC8B,missense_variant,p.Pro243Gln,ENST00000470960,;RIC8B,non_coding_transcript_exon_variant,,ENST00000470628,;	1554	48	36	SUCCESS
MAPKAPK5	8550	.	GRCh37	12	112308091	112308091	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761251796	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	24	135	0	ENST00000551404.2:c.410G>A	p.Arg137Gln	p.R137Q	ENST00000551404		137	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS44975.1	410	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGGCACT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000449381	.	6/14	.	.	.	.	.	.	.	.	rs761251796	6/14	PASS	ENST00000551404	Transcript	.	.	ENSG00000089022	6889	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	MAPK5_HUMAN	MAPKAPK5	HGNC	.	.	UPI0000161429	SNV	MAPKAPK5,missense_variant,p.Arg137Gln,ENST00000550735,;MAPKAPK5,missense_variant,p.Arg137Gln,ENST00000551404,;MAPKAPK5,intron_variant,,ENST00000549875,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000546394,;MAPKAPK5,intron_variant,,ENST00000553053,;	518	135	128	SUCCESS
NCOR2	9612	.	GRCh37	12	124835268	124835268	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755508738	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	13	0	ENST00000405201.1:c.3709G>A	p.Val1237Ile	p.V1237I	ENST00000405201		1237	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS41858.2	3709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGTCAG	NONE	byFrequency	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	28/47	.	.	.	.	.	.	.	.	rs755508738	28/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Val1244Ile,ENST00000356219,;NCOR2,missense_variant,p.Val1245Ile,ENST00000458234,;NCOR2,missense_variant,p.Val798Ile,ENST00000404121,;NCOR2,missense_variant,p.Val1227Ile,ENST00000429285,;NCOR2,missense_variant,p.Val1237Ile,ENST00000405201,;NCOR2,missense_variant,p.Val1227Ile,ENST00000404621,;NCOR2,missense_variant,p.Val1228Ile,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000536195,;NCOR2,upstream_gene_variant,,ENST00000473999,;NCOR2,downstream_gene_variant,,ENST00000493859,;	3710	13	30	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834592	125834592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	16	0	ENST00000299308.3:c.647A>G	p.Glu216Gly	p.E216G	ENST00000299308	NM_052907.2	216	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS41859.1	647	RADIA|VARSCANS	.	GATGGAGCTCT	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Glu216Gly,ENST00000299308,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,downstream_gene_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	655	16	22	SUCCESS
ST8SIA1	6489	.	GRCh37	12	22486954	22486954	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	19	0	ENST00000396037.4:c.213C>G	p.Asn71Lys	p.N71K	ENST00000396037	NM_003034.3	71	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS8697.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGTTCCT	NONE	.	.	PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987:SF3,hmmpanther:PTHR11987	.	.	ENSP00000379353	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000396037	Transcript	.	.	ENSG00000111728	10869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	tolerated(0.08)	.	SIA8A_HUMAN	ST8SIA1	HGNC	H0YFU1_HUMAN	.	UPI000013596F	SNV	ST8SIA1,missense_variant,p.Asn48Lys,ENST00000541868,;ST8SIA1,missense_variant,p.Asn71Lys,ENST00000396037,;ST8SIA1,missense_variant,p.Asn71Lys,ENST00000381424,;ST8SIA1,missense_variant,p.Asn71Lys,ENST00000404299,;ST8SIA1,5_prime_UTR_variant,,ENST00000539510,;ST8SIA1,intron_variant,,ENST00000540824,;ST8SIA1,intron_variant,,ENST00000536558,;ST8SIA1,missense_variant,p.Asn71Lys,ENST00000261197,;	695	19	22	SUCCESS
LRMP	0	.	GRCh37	12	25232338	25232338	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	.	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	20	99	0	ENST00000354454.3:c.78T>A	p.Tyr26Ter	p.Y26*	ENST00000354454	NM_006152.3	26	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS8701.1	78	RADIA|MUTECT|MUSE|VARSCANS	.	GAATATTCCTC	NONE	.	.	hmmpanther:PTHR15352,Pfam_domain:PF05781	.	.	ENSP00000346442	.	7/21	.	.	.	.	.	.	.	.	COSM468164	7/21	PASS	ENST00000354454	Transcript	.	.	ENSG00000118308	6690	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	LRMP_HUMAN	LRMP	HGNC	G3V513_HUMAN,G3V2F6_HUMAN,F8W9L6_HUMAN,F8VRE4_HUMAN,F5H006_HUMAN	.	UPI000034ECC4	SNV	LRMP,stop_gained,p.Tyr26Ter,ENST00000354454,;LRMP,stop_gained,p.Tyr26Ter,ENST00000554942,;LRMP,stop_gained,p.Tyr26Ter,ENST00000557489,;LRMP,stop_gained,p.Tyr26Ter,ENST00000548766,;LRMP,stop_gained,p.Tyr26Ter,ENST00000547044,;LRMP,stop_gained,p.Tyr26Ter,ENST00000550945,;LRMP,5_prime_UTR_variant,,ENST00000536173,;LRMP,non_coding_transcript_exon_variant,,ENST00000557472,;LRMP,stop_gained,p.Tyr26Ter,ENST00000554272,;LRMP,stop_gained,p.Tyr26Ter,ENST00000361433,;LRMP,non_coding_transcript_exon_variant,,ENST00000549437,;	907	99	112	SUCCESS
KIAA1551	0	.	GRCh37	12	32135645	32135645	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756631544	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	44	0	ENST00000312561.4:c.1756G>A	p.Ala586Thr	p.A586T	ENST00000312561	NM_018169.3	586	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8725.2	1756	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGCTTTG	NONE	byFrequency	.	hmmpanther:PTHR21604	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	rs756631544	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.38)	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,missense_variant,p.Ala586Thr,ENST00000312561,;KIAA1551,missense_variant,p.Ala586Thr,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	2170	44	46	SUCCESS
KRT83	3889	.	GRCh37	12	52711467	52711467	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	33	0	ENST00000293670.3:c.748G>A	p.Glu250Lys	p.E250K	ENST00000293670	NM_002282.3	250	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS8823.1	748	RADIA|VARSCANS	.	CACCTCCTCGT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038	.	.	ENSP00000293670	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000293670	Transcript	.	.	ENSG00000170523	6460	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.367)	.	deleterious(0.02)	.	KRT83_HUMAN	KRT83	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000070AF2	SNV	KRT83,missense_variant,p.Glu250Lys,ENST00000293670,;AC121757.1,downstream_gene_variant,,ENST00000594763,;	811	33	29	SUCCESS
OSBPL8	114882	.	GRCh37	12	76765334	76765334	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	48	0	ENST00000261183.3:c.1948A>G	p.Thr650Ala	p.T650A	ENST00000261183	NM_020841.4	650	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31862.1	1948	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTCTTTT	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF77	.	.	ENSP00000261183	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000261183	Transcript	.	.	ENSG00000091039	16396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.815)	.	deleterious(0.03)	.	OSBL8_HUMAN	OSBPL8	HGNC	Q96E43_HUMAN,Q6ZME5_HUMAN,F8VZB8_HUMAN,F8VVE7_HUMAN,F8VVD3_HUMAN,F8VQX7_HUMAN	.	UPI000006ECD1	SNV	OSBPL8,missense_variant,p.Thr650Ala,ENST00000261183,;OSBPL8,missense_variant,p.Thr625Ala,ENST00000546946,;OSBPL8,missense_variant,p.Thr608Ala,ENST00000393250,;OSBPL8,missense_variant,p.Thr608Ala,ENST00000393249,;OSBPL8,missense_variant,p.Thr650Ala,ENST00000547540,;OSBPL8,non_coding_transcript_exon_variant,,ENST00000552586,;OSBPL8,non_coding_transcript_exon_variant,,ENST00000548485,;	2428	48	60	SUCCESS
OTOGL	283310	.	GRCh37	12	80655780	80655780	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775207938	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	28	0	ENST00000547103.1:c.1894C>A	p.Gln632Lys	p.Q632K	ENST00000547103		632	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	.	1894	RADIA|MUTECT|VARSCANS	.	CACCACAACTT	NONE	.	.	hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000400895	.	18/58	.	.	.	.	.	.	.	.	rs775207938	18/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Gln632Lys,ENST00000458043,;OTOGL,missense_variant,p.Gln632Lys,ENST00000547103,;	1900	28	42	SUCCESS
ZIC5	85416	.	GRCh37	13	100617641	100617641	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146570814	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	57	0	ENST00000267294.4:c.1982C>T	p.Thr661Met	p.T661M	ENST00000267294	NM_033132.3	661	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS9494.2	1982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCGTCCGC	NONE	byCluster	.	hmmpanther:PTHR19818:SF69,hmmpanther:PTHR19818	.	A:0.0002	ENSP00000267294	.	2/2	.	.	.	.	.	.	.	.	rs146570814,COSM242338	2/2	PASS	ENST00000267294	Transcript	.	.	ENSG00000139800	20322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	.	deleterious_low_confidence(0)	0,1	ZIC5_HUMAN	ZIC5	HGNC	.	.	UPI0000458928	SNV	ZIC5,missense_variant,p.Thr661Met,ENST00000267294,;	2216	57	57	SUCCESS
MYO16	23026	.	GRCh37	13	109507803	109507803	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	49	1	ENST00000356711.2:c.1195C>T	p.Pro399Ser	p.P399S	ENST00000356711	NM_015011.1	399	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS32008.1	1195	MUTECT|MUSE|VARSCANS	.	TAATGCCTCCT	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000349145	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,missense_variant,p.Pro399Ser,ENST00000251041,;MYO16,missense_variant,p.Pro399Ser,ENST00000356711,;MYO16,missense_variant,p.Pro399Ser,ENST00000357550,;MYO16,non_coding_transcript_exon_variant,,ENST00000482793,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	1321	50	46	SUCCESS
HEATR5A	25938	.	GRCh37	14	31827874	31827874	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	50	0	ENST00000389961.3:c.2362del	p.Val788LeufsTer22	p.V788Lfs*22	ENST00000389961		788	Gtt/tt	0	.	.	.	.	.	-	V/X	protein_coding	.	.	1501	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACAACCCCAA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF1	.	.	ENSP00000408681	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000439727	Transcript	.	.	ENSG00000129493	20276	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	HEATR5A	HGNC	E9PB09_HUMAN	.	UPI0000197428	deletion	HEATR5A,frameshift_variant,p.Val501LeufsTer22,ENST00000439727,;HEATR5A,frameshift_variant,p.Val794LeufsTer22,ENST00000404677,;HEATR5A,frameshift_variant,p.Val788LeufsTer22,ENST00000389961,;HEATR5A,frameshift_variant,p.Val794LeufsTer22,ENST00000543095,;HEATR5A,frameshift_variant,p.Val788LeufsTer22,ENST00000439348,;HEATR5A,frameshift_variant,p.Val422LeufsTer22,ENST00000538864,;HEATR5A,frameshift_variant,p.Val437LeufsTer22,ENST00000550366,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	1578	50	39	SUCCESS
SEC23A	10484	.	GRCh37	14	39524374	39524374	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	80	0	ENST00000307712.6:c.1632G>T	p.Arg544Ser	p.R544S	ENST00000307712	NM_006364.2	544	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS9668.1	1632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCTAAG	NONE	.	.	hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF5,Pfam_domain:PF04815,Superfamily_domains:SSF81811	.	.	ENSP00000306881	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000307712	Transcript	.	.	ENSG00000100934	10701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	SC23A_HUMAN	SEC23A	HGNC	G3V5K1_HUMAN,G3V3G5_HUMAN,G3V2R6_HUMAN,B3KXI2_HUMAN	.	UPI000013EC46	SNV	SEC23A,missense_variant,p.Arg544Ser,ENST00000307712,;SEC23A,missense_variant,p.Arg418Ser,ENST00000536508,;SEC23A,missense_variant,p.Arg515Ser,ENST00000545328,;SEC23A,missense_variant,p.Arg342Ser,ENST00000537403,;	2150	80	80	SUCCESS
NEMF	9147	.	GRCh37	14	50269987	50269987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	96	0	ENST00000298310.5:c.1883A>G	p.Glu628Gly	p.E628G	ENST00000298310		628	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS9694.1	1883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTCTCCA	NONE	.	.	hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1,Pfam_domain:PF05670	.	.	ENSP00000298310	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000298310	Transcript	.	.	ENSG00000165525	10663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NEMF_HUMAN	NEMF	HGNC	.	.	UPI0000246D16	SNV	NEMF,missense_variant,p.Glu607Gly,ENST00000546046,;NEMF,missense_variant,p.Glu586Gly,ENST00000555970,;NEMF,missense_variant,p.Glu628Gly,ENST00000298310,;NEMF,missense_variant,p.Glu586Gly,ENST00000545773,;NEMF,non_coding_transcript_exon_variant,,ENST00000556925,;NEMF,non_coding_transcript_exon_variant,,ENST00000555411,;NEMF,upstream_gene_variant,,ENST00000556691,;NEMF,upstream_gene_variant,,ENST00000556074,;	2333	96	96	SUCCESS
GALC	2581	.	GRCh37	14	88416215	88416215	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	57	0	ENST00000261304.2:c.1312C>G	p.Leu438Val	p.L438V	ENST00000261304	NM_000153.3	438	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS9878.2	1312	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGAAATC	NONE	.	.	Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1	.	.	ENSP00000261304	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000261304	Transcript	.	.	ENSG00000054983	4115	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.106)	.	tolerated(0.27)	.	GALC_HUMAN	GALC	HGNC	.	.	UPI00001FD982	SNV	GALC,missense_variant,p.Leu415Val,ENST00000393568,;GALC,missense_variant,p.Leu382Val,ENST00000544807,;GALC,missense_variant,p.Leu412Val,ENST00000393569,;GALC,missense_variant,p.Leu438Val,ENST00000261304,;GALC,missense_variant,p.Leu227Val,ENST00000555000,;GALC,missense_variant,p.Leu11Val,ENST00000555179,;GALC,3_prime_UTR_variant,,ENST00000557316,;FAM35CP,upstream_gene_variant,,ENST00000554755,;	1419	57	53	SUCCESS
SERPINA10	51156	.	GRCh37	14	94752572	94752572	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	36	0	ENST00000261994.4:c.1016A>G	p.Lys339Arg	p.K339R	ENST00000261994	NM_001100607.2	339	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS9923.1	1016	RADIA|MUSE|VARSCANS	.	TGAACTTCGGA	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF31,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000376809	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000393096	Transcript	.	.	ENSG00000140093	15996	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.333)	.	tolerated(0.11)	.	ZPI_HUMAN	SERPINA10	HGNC	.	.	UPI000013C46E	SNV	SERPINA10,missense_variant,p.Lys339Arg,ENST00000393096,;SERPINA10,missense_variant,p.Lys339Arg,ENST00000261994,;SERPINA10,missense_variant,p.Lys339Arg,ENST00000554173,;SERPINA10,missense_variant,p.Lys379Arg,ENST00000554723,;	1482	36	41	SUCCESS
SYNE3	161176	.	GRCh37	14	95916354	95916354	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	58	0	ENST00000334258.5:c.1363T>C	p.Trp455Arg	p.W455R	ENST00000334258	NM_152592.3	455	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS9935.1	1363	RADIA|MUSE|VARSCANS	.	CTTCCACAGCT	NONE	.	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	.	.	ENSP00000334308	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000334258	Transcript	.	.	ENSG00000176438	19861	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,missense_variant,p.Trp212Arg,ENST00000554873,;SYNE3,missense_variant,p.Trp455Arg,ENST00000334258,;SYNE3,missense_variant,p.Trp455Arg,ENST00000557275,;SYNE3,missense_variant,p.Trp455Arg,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	1378	58	52	SUCCESS
SPG11	80208	.	GRCh37	15	44943731	44943731	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	49	0	ENST00000261866.7:c.1414G>T	p.Val472Leu	p.V472L	ENST00000261866	NM_025137.3	472	Gta/Tta	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS10112.1	1414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTACAGGAA	NONE	.	.	hmmpanther:PTHR13650	.	.	ENSP00000261866	.	6/40	.	.	.	.	.	.	.	.	.	6/40	PASS	ENST00000261866	Transcript	1	.	ENSG00000104133	11226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.04)	.	SPTCS_HUMAN	SPG11	HGNC	H0YN96_HUMAN,C4B7M3_HUMAN	.	UPI0000456840	SNV	SPG11,missense_variant,p.Val472Leu,ENST00000535302,;SPG11,missense_variant,p.Val472Leu,ENST00000559193,;SPG11,missense_variant,p.Val472Leu,ENST00000261866,;SPG11,missense_variant,p.Val472Leu,ENST00000558319,;SPG11,missense_variant,p.Val472Leu,ENST00000427534,;SPG11,missense_variant,p.Val38Leu,ENST00000557866,;	1431	49	39	SUCCESS
VWA3A	146177	.	GRCh37	16	22144300	22144300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	18	0	ENST00000389398.5:c.1952A>G	p.Glu651Gly	p.E651G	ENST00000389398	NM_173615.3	651	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS45441.1	1952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGAGCCAA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Superfamily_domains:SSF53300	.	.	ENSP00000374049	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.08)	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,missense_variant,p.Glu33Gly,ENST00000563389,;VWA3A,missense_variant,p.Glu672Gly,ENST00000568328,;VWA3A,missense_variant,p.Glu651Gly,ENST00000389398,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,missense_variant,p.Glu261Gly,ENST00000299840,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;	2048	18	23	SUCCESS
TNRC6A	27327	.	GRCh37	16	24802369	24802369	+	synonymous_variant	Silent	SNP	G	G	A	rs113829020	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	24	0	ENST00000395799.3:c.2406G>A	p.Gly802=	p.G802=	ENST00000395799	NM_014494.2	802	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10624.2	2406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGGGGTG	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,synonymous_variant,p.%3D,ENST00000395799,;TNRC6A,synonymous_variant,p.%3D,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000561726,;TNRC6A,upstream_gene_variant,,ENST00000567232,;TNRC6A,upstream_gene_variant,,ENST00000568903,;	2535	24	21	SUCCESS
SHCBP1	79801	.	GRCh37	16	46615855	46615855	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	19	102	1	ENST00000303383.3:c.1805C>T	p.Thr602Ile	p.T602I	ENST00000303383	NM_024745.4	602	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10720.1	1805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGTTCTT	NONE	.	.	hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF6	.	.	ENSP00000306473	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000303383	Transcript	.	.	ENSG00000171241	29547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	SHCBP_HUMAN	SHCBP1	HGNC	.	.	UPI000013E898	SNV	SHCBP1,missense_variant,p.Thr602Ile,ENST00000303383,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000567698,;	2072	103	85	SUCCESS
PHKB	5257	.	GRCh37	16	47533690	47533690	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	31	0	ENST00000323584.5:c.190C>G	p.Gln64Glu	p.Q64E	ENST00000323584	NM_000293.2	64	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS10729.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATCAAAGT	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3,Pfam_domain:PF00723,Superfamily_domains:SSF48208	.	.	ENSP00000313504	.	3/31	.	.	.	.	.	.	.	.	.	3/31	PASS	ENST00000323584	Transcript	.	.	ENSG00000102893	8927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.923)	.	deleterious(0)	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Gln64Glu,ENST00000299167,;PHKB,missense_variant,p.Gln57Glu,ENST00000563376,;PHKB,missense_variant,p.Gln64Glu,ENST00000323584,;PHKB,missense_variant,p.Gln57Glu,ENST00000564873,;PHKB,missense_variant,p.Gln57Glu,ENST00000566044,;PHKB,missense_variant,p.Gln57Glu,ENST00000455779,;PHKB,missense_variant,p.Gln57Glu,ENST00000566037,;PHKB,non_coding_transcript_exon_variant,,ENST00000567402,;PHKB,missense_variant,p.Gln9Glu,ENST00000570047,;PHKB,intron_variant,,ENST00000565424,;	214	31	19	SUCCESS
PPL	5493	.	GRCh37	16	4945347	4945347	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	24	0	ENST00000345988.2:c.1157A>T	p.Gln386Leu	p.Q386L	ENST00000345988	NM_002705.4	386	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10526.1	1157	RADIA|MUTECT|VARSCANS	.	CCTGCTGGCCT	NONE	.	.	hmmpanther:PTHR23169,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000340510	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000345988	Transcript	.	.	ENSG00000118898	9273	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.41)	.	PEPL_HUMAN	PPL	HGNC	.	.	UPI00001AE832	SNV	PPL,missense_variant,p.Gln384Leu,ENST00000590782,;PPL,missense_variant,p.Gln386Leu,ENST00000345988,;PPL,intron_variant,,ENST00000592772,;PPL,upstream_gene_variant,,ENST00000590093,;PPL,upstream_gene_variant,,ENST00000588556,;	1247	24	18	SUCCESS
NLRC5	84166	.	GRCh37	16	57075465	57075465	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	28	0	ENST00000262510.6:c.3008A>G	p.His1003Arg	p.H1003R	ENST00000262510	NM_032206.4	1003	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS10773.1	3008	RADIA|VARSCANS	.	CTGCCACCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000262510	.	18/49	.	.	.	.	.	.	.	.	.	18/49	PASS	ENST00000262510	Transcript	.	.	ENSG00000140853	29933	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.079)	.	tolerated(0.42)	.	NLRC5_HUMAN	NLRC5	HGNC	F5H274_HUMAN,F5GYP0_HUMAN	.	UPI00001AEE94	SNV	NLRC5,missense_variant,p.His302Arg,ENST00000543030,;NLRC5,missense_variant,p.His1003Arg,ENST00000308149,;NLRC5,missense_variant,p.His756Arg,ENST00000538805,;NLRC5,missense_variant,p.His510Arg,ENST00000538110,;NLRC5,missense_variant,p.His1003Arg,ENST00000539144,;NLRC5,missense_variant,p.His1003Arg,ENST00000436936,;NLRC5,missense_variant,p.His1003Arg,ENST00000262510,;NLRC5,missense_variant,p.His34Arg,ENST00000540182,;NLRC5,missense_variant,p.His731Arg,ENST00000545081,;NLRC5,missense_variant,p.His154Arg,ENST00000538453,;NLRC5,3_prime_UTR_variant,,ENST00000539881,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538778,;NLRC5,non_coding_transcript_exon_variant,,ENST00000541020,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538930,;NLRC5,upstream_gene_variant,,ENST00000537056,;NLRC5,upstream_gene_variant,,ENST00000534931,;	3233	28	32	SUCCESS
KIAA0895L	653319	.	GRCh37	16	67214392	67214392	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	57	0	ENST00000290881.7:c.122G>A	p.Trp41Ter	p.W41*	ENST00000290881		41	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS42177.1	122	RADIA|VARSCANS	.	GAGACCAGGGG	NONE	.	.	hmmpanther:PTHR31817:SF1,hmmpanther:PTHR31817	.	.	ENSP00000290881	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000290881	Transcript	.	.	ENSG00000196123	34408	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K895L_HUMAN	KIAA0895L	HGNC	J3KRL4_HUMAN	.	UPI00001AEB6A	SNV	KIAA0895L,stop_gained,p.Trp41Ter,ENST00000290881,;KIAA0895L,stop_gained,p.Trp41Ter,ENST00000561621,;KIAA0895L,stop_gained,p.Trp41Ter,ENST00000563902,;NOL3,downstream_gene_variant,,ENST00000432069,;EXOC3L1,downstream_gene_variant,,ENST00000545725,;EXOC3L1,downstream_gene_variant,,ENST00000563889,;KIAA0895L,upstream_gene_variant,,ENST00000568563,;NOL3,downstream_gene_variant,,ENST00000268605,;NOL3,downstream_gene_variant,,ENST00000568146,;EXOC3L1,downstream_gene_variant,,ENST00000314586,;KIAA0895L,intron_variant,,ENST00000563831,;KIAA0895L,intron_variant,,ENST00000564423,;KIAA0895L,upstream_gene_variant,,ENST00000563918,;KIAA0895L,upstream_gene_variant,,ENST00000570009,;KIAA0895L,upstream_gene_variant,,ENST00000562514,;KIAA0895L,intron_variant,,ENST00000569349,;KIAA0895L,upstream_gene_variant,,ENST00000568165,;NOL3,downstream_gene_variant,,ENST00000568503,;KIAA0895L,upstream_gene_variant,,ENST00000561679,;EXOC3L1,downstream_gene_variant,,ENST00000564324,;KIAA0895L,upstream_gene_variant,,ENST00000564835,;EXOC3L1,downstream_gene_variant,,ENST00000563536,;	1049	57	35	SUCCESS
TAT	6898	.	GRCh37	16	71604286	71604286	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	29	0	ENST00000355962.4:c.927G>T	p.Leu309=	p.L309=	ENST00000355962	NM_000353.2	309	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10903.1	927	RADIA|VARSCANS	.	TTCACCAGCCC	NONE	.	.	hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	.	.	ENSP00000348234	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	SNV	TAT,synonymous_variant,p.%3D,ENST00000355962,;RP11-432I5.1,intron_variant,,ENST00000561529,;TAT,upstream_gene_variant,,ENST00000564007,;TAT,downstream_gene_variant,,ENST00000566094,;	1061	29	31	SUCCESS
ZCCHC14	23174	.	GRCh37	16	87446754	87446754	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	19	0	ENST00000268616.4:c.1240G>A	p.Gly414Ser	p.G414S	ENST00000268616	NM_015144.2	414	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS10961.1	1240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCTTCCC	NONE	.	.	hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195	.	.	ENSP00000268616	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000268616	Transcript	.	.	ENSG00000140948	24134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.5)	.	ZCH14_HUMAN	ZCCHC14	HGNC	.	.	UPI00000705C4	SNV	ZCCHC14,missense_variant,p.Gly414Ser,ENST00000268616,;ZCCHC14,missense_variant,p.Gly298Ser,ENST00000561928,;ZCCHC14,missense_variant,p.Gly414Ser,ENST00000568020,;ZCCHC14,downstream_gene_variant,,ENST00000565193,;	1458	19	24	SUCCESS
RAB34	83871	.	GRCh37	17	27041897	27041897	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	23	0	ENST00000301043.6:c.626T>C	p.Phe209Ser	p.F209S	ENST00000301043	NM_001256277.1	209	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS45635.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAAGAAT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF397,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000410403	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000447716	Transcript	.	.	ENSG00000109113	16519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	RAB34	HGNC	K7EIF2_HUMAN,J3KQW8_HUMAN,C9JBG0_HUMAN,B4DNC0_HUMAN	.	UPI0001929526	SNV	RAB34,missense_variant,p.Phe115Ser,ENST00000583538,;RAB34,missense_variant,p.Phe209Ser,ENST00000430132,;RAB34,missense_variant,p.Phe209Ser,ENST00000301043,;RAB34,missense_variant,p.Phe210Ser,ENST00000395242,;RAB34,missense_variant,p.Phe201Ser,ENST00000395243,;RAB34,missense_variant,p.Phe187Ser,ENST00000415040,;RAB34,missense_variant,p.Phe209Ser,ENST00000395245,;RAB34,missense_variant,p.Phe209Ser,ENST00000436730,;RAB34,missense_variant,p.Phe209Ser,ENST00000353676,;RAB34,missense_variant,p.Phe266Ser,ENST00000447716,;RAB34,missense_variant,p.Phe209Ser,ENST00000412625,;RAB34,missense_variant,p.Phe201Ser,ENST00000450529,;RAB34,intron_variant,,ENST00000453384,;PROCA1,upstream_gene_variant,,ENST00000581289,;RAB34,downstream_gene_variant,,ENST00000419712,;PROCA1,upstream_gene_variant,,ENST00000439862,;RPL23A,upstream_gene_variant,,ENST00000422514,;RAB34,downstream_gene_variant,,ENST00000580843,;PROCA1,upstream_gene_variant,,ENST00000301039,;RAB34,downstream_gene_variant,,ENST00000582934,;PROCA1,upstream_gene_variant,,ENST00000578097,;PROCA1,upstream_gene_variant,,ENST00000422880,;PROCA1,upstream_gene_variant,,ENST00000579650,;RAB34,3_prime_UTR_variant,,ENST00000422279,;RAB34,non_coding_transcript_exon_variant,,ENST00000474704,;RAB34,non_coding_transcript_exon_variant,,ENST00000484161,;RAB34,downstream_gene_variant,,ENST00000482688,;RAB34,downstream_gene_variant,,ENST00000481501,;RAB34,downstream_gene_variant,,ENST00000496866,;PROCA1,upstream_gene_variant,,ENST00000473751,;RAB34,downstream_gene_variant,,ENST00000483554,;	798	23	36	SUCCESS
NBR1	4077	.	GRCh37	17	41347052	41347052	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	90	0	ENST00000341165.6:c.1746T>G	p.Pro582=	p.P582=	ENST00000341165	NM_031862.2	582	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS45694.1	1746	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTGTGGG	NONE	.	.	hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,synonymous_variant,p.%3D,ENST00000422280,;NBR1,synonymous_variant,p.%3D,ENST00000589872,;NBR1,synonymous_variant,p.%3D,ENST00000389312,;NBR1,synonymous_variant,p.%3D,ENST00000542611,;NBR1,synonymous_variant,p.%3D,ENST00000341165,;NBR1,synonymous_variant,p.%3D,ENST00000590996,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;	2205	90	107	SUCCESS
MPP3	4356	.	GRCh37	17	41879127	41879127	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	18	0	ENST00000398389.4:c.1700T>C	p.Val567Ala	p.V567A	ENST00000398389	NM_001932.4	567	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS42344.1	1700	MUTECT|VARSCANS	.	AGACCACTTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF33,PROSITE_profiles:PS50052	.	.	ENSP00000381425	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000398389	Transcript	.	.	ENSG00000161647	7221	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.8)	.	MPP3_HUMAN	MPP3	HGNC	.	.	UPI0000167B23	SNV	MPP3,missense_variant,p.Val592Ala,ENST00000398393,;MPP3,missense_variant,p.Val567Ala,ENST00000398389,;MPP3,3_prime_UTR_variant,,ENST00000496503,;	1866	18	17	SUCCESS
CDK3	1018	.	GRCh37	17	73998397	73998397	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	25	0	ENST00000425876.2:c.384G>T	p.Leu128=	p.L128=	ENST00000425876		128	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11736.1	384	RADIA|VARSCANS	.	GACCTGAAGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF173,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000410561	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000425876	Transcript	.	.	ENSG00000250506	1772	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDK3_HUMAN	CDK3	HGNC	K7ELV5_HUMAN,K7EJ83_HUMAN	.	UPI0000113587	SNV	CDK3,synonymous_variant,p.%3D,ENST00000448471,;CDK3,synonymous_variant,p.%3D,ENST00000588812,;CDK3,synonymous_variant,p.%3D,ENST00000425876,;CDK3,synonymous_variant,p.%3D,ENST00000586261,;EVPL,downstream_gene_variant,,ENST00000589231,;EVPL,downstream_gene_variant,,ENST00000586740,;TEN1,downstream_gene_variant,,ENST00000588202,;EVPL,downstream_gene_variant,,ENST00000301607,;TEN1,downstream_gene_variant,,ENST00000416485,;TEN1,downstream_gene_variant,,ENST00000397640,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000587569,;	472	25	41	SUCCESS
GPS1	2873	.	GRCh37	17	80011842	80011842	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	15	0	ENST00000306823.6:c.225G>A	p.Leu75=	p.L75=	ENST00000306823		75	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11800.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGAAGAT	NONE	.	.	hmmpanther:PTHR14145:SF2,hmmpanther:PTHR14145	.	.	ENSP00000376167	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000392358	Transcript	.	.	ENSG00000169727	4549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN1_HUMAN	GPS1	HGNC	J3QS88_HUMAN,J3QL53_HUMAN,J3KTB0_HUMAN,J3KSA5_HUMAN,C9JFE4_HUMAN,A8K070_HUMAN	.	UPI0000231C2E	SNV	GPS1,synonymous_variant,p.%3D,ENST00000583641,;GPS1,synonymous_variant,p.%3D,ENST00000392358,;GPS1,synonymous_variant,p.%3D,ENST00000578552,;GPS1,synonymous_variant,p.%3D,ENST00000583009,;GPS1,synonymous_variant,p.%3D,ENST00000320548,;GPS1,synonymous_variant,p.%3D,ENST00000581418,;GPS1,synonymous_variant,p.%3D,ENST00000581578,;GPS1,synonymous_variant,p.%3D,ENST00000580716,;GPS1,synonymous_variant,p.%3D,ENST00000355130,;GPS1,synonymous_variant,p.%3D,ENST00000583961,;GPS1,synonymous_variant,p.%3D,ENST00000582327,;GPS1,synonymous_variant,p.%3D,ENST00000306823,;GPS1,synonymous_variant,p.%3D,ENST00000583885,;GPS1,synonymous_variant,p.%3D,ENST00000585084,;DUS1L,downstream_gene_variant,,ENST00000538833,;DUS1L,downstream_gene_variant,,ENST00000542088,;DUS1L,downstream_gene_variant,,ENST00000306796,;RFNG,upstream_gene_variant,,ENST00000310496,;DUS1L,downstream_gene_variant,,ENST00000577574,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000578168,;DUS1L,downstream_gene_variant,,ENST00000354321,;RFNG,upstream_gene_variant,,ENST00000429557,;RFNG,upstream_gene_variant,,ENST00000580928,;GPS1,downstream_gene_variant,,ENST00000584229,;GPS1,downstream_gene_variant,,ENST00000583983,;RFNG,upstream_gene_variant,,ENST00000584838,;GPS1,3_prime_UTR_variant,,ENST00000580141,;GPS1,3_prime_UTR_variant,,ENST00000584460,;GPS1,3_prime_UTR_variant,,ENST00000580627,;GPS1,3_prime_UTR_variant,,ENST00000580723,;GPS1,3_prime_UTR_variant,,ENST00000578392,;GPS1,non_coding_transcript_exon_variant,,ENST00000392357,;RFNG,upstream_gene_variant,,ENST00000584515,;RFNG,upstream_gene_variant,,ENST00000582478,;GPS1,upstream_gene_variant,,ENST00000578279,;RFNG,upstream_gene_variant,,ENST00000580953,;DUS1L,downstream_gene_variant,,ENST00000578846,;GPS1,upstream_gene_variant,,ENST00000583486,;RFNG,upstream_gene_variant,,ENST00000584463,;GPS1,downstream_gene_variant,,ENST00000578642,;RFNG,upstream_gene_variant,,ENST00000583784,;RFNG,upstream_gene_variant,,ENST00000578676,;DUS1L,downstream_gene_variant,,ENST00000584871,;DUS1L,downstream_gene_variant,,ENST00000579854,;DUS1L,downstream_gene_variant,,ENST00000580731,;DUS1L,downstream_gene_variant,,ENST00000578428,;RFNG,upstream_gene_variant,,ENST00000580793,;	694	15	33	SUCCESS
WDR7	23335	.	GRCh37	18	54362254	54362254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	26	119	0	ENST00000254442.3:c.1182A>G	p.Ile394Met	p.I394M	ENST00000254442	NM_015285.2	394	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS11962.1	1182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATAGATCA	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10	.	.	ENSP00000254442	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000254442	Transcript	.	.	ENSG00000091157	13490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.07)	.	WDR7_HUMAN	WDR7	HGNC	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN	.	UPI000013CE33	SNV	WDR7,missense_variant,p.Ile394Met,ENST00000254442,;WDR7,missense_variant,p.Ile394Met,ENST00000357574,;WDR7,intron_variant,,ENST00000589935,;WDR7,non_coding_transcript_exon_variant,,ENST00000585754,;	1393	119	114	SUCCESS
RTTN	25914	.	GRCh37	18	67871371	67871371	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	83	1	ENST00000255674.6:c.348T>C	p.Pro116=	p.P116=	ENST00000255674	NM_173630.3	116	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS42443.1	348	RADIA|MUTECT|VARSCANS	.	TCCGAAGGAAG	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	.	.	ENSP00000255674	.	3/49	.	.	.	.	.	.	.	.	.	3/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,synonymous_variant,p.%3D,ENST00000255674,;RTTN,synonymous_variant,p.%3D,ENST00000454359,;RTTN,synonymous_variant,p.%3D,ENST00000437017,;RTTN,synonymous_variant,p.%3D,ENST00000581161,;RTTN,non_coding_transcript_exon_variant,,ENST00000581583,;	635	84	73	SUCCESS
PCSK4	54760	.	GRCh37	19	1484037	1484037	+	synonymous_variant	Silent	SNP	C	C	T	rs1002821734	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	25	0	ENST00000300954.5:c.1158G>A	p.Ala386=	p.A386=	ENST00000300954	NM_017573.3	386	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12069.2	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCGCTAG	NONE	.	.	hmmpanther:PTHR10795:SF338,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743,Prints_domain:PR00723	.	.	ENSP00000300954	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000300954	Transcript	.	.	ENSG00000115257	8746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCSK4_HUMAN	PCSK4	HGNC	.	.	UPI000014E136	SNV	PCSK4,synonymous_variant,p.%3D,ENST00000300954,;PCSK4,downstream_gene_variant,,ENST00000588671,;C19orf25,upstream_gene_variant,,ENST00000586564,;C19orf25,upstream_gene_variant,,ENST00000436106,;C19orf25,upstream_gene_variant,,ENST00000588427,;C19orf25,upstream_gene_variant,,ENST00000592872,;C19orf25,upstream_gene_variant,,ENST00000588871,;C19orf25,upstream_gene_variant,,ENST00000427685,;C19orf25,upstream_gene_variant,,ENST00000589529,;C19orf25,upstream_gene_variant,,ENST00000585675,;CTB-25B13.6,upstream_gene_variant,,ENST00000585643,;C19orf25,upstream_gene_variant,,ENST00000591027,;C19orf25,upstream_gene_variant,,ENST00000592605,;PCSK4,downstream_gene_variant,,ENST00000591687,;PCSK4,downstream_gene_variant,,ENST00000590057,;PCSK4,downstream_gene_variant,,ENST00000587784,;PCSK4,missense_variant,p.Ala382Thr,ENST00000588195,;PCSK4,3_prime_UTR_variant,,ENST00000591201,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586002,;PCSK4,upstream_gene_variant,,ENST00000591303,;PCSK4,upstream_gene_variant,,ENST00000586074,;C19orf25,upstream_gene_variant,,ENST00000589421,;	1220	25	29	SUCCESS
ATP8B3	148229	.	GRCh37	19	1807173	1807173	+	synonymous_variant	Silent	SNP	G	G	A	rs367593614	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	32	0	ENST00000310127.6:c.609C>T	p.Asp203=	p.D203=	ENST00000310127	NM_138813.3	203	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS45901.1	609	MUTECT|VARSCANS	.	ATGTCGTCCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049473	.	A:0.0001	ENSP00000311336	.	6/29	.	.	.	.	.	.	.	.	rs367593614	6/29	PASS	ENST00000310127	Transcript	.	.	ENSG00000130270	13535	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,synonymous_variant,p.%3D,ENST00000310127,;ATP8B3,synonymous_variant,p.%3D,ENST00000587160,;ATP8B3,synonymous_variant,p.%3D,ENST00000533993,;ATP8B3,synonymous_variant,p.%3D,ENST00000539485,;ATP8B3,synonymous_variant,p.%3D,ENST00000526092,;ATP8B3,synonymous_variant,p.%3D,ENST00000525591,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,upstream_gene_variant,,ENST00000533107,;	848	32	38	SUCCESS
WDR88	126248	.	GRCh37	19	33647374	33647374	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770635793	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	25	0	ENST00000355868.3:c.923G>T	p.Arg308Leu	p.R308L	ENST00000355868	NM_173479.3	308	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12429.1	923	RADIA|VARSCANS	.	GTTTCGAAACT	CODON|p.R308*|c.922C>T|3	byFrequency	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF391,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000348129	.	7/11	.	.	.	.	.	.	.	.	rs770635793	7/11	oxog	ENST00000355868	Transcript	.	.	ENSG00000166359	26999	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	WDR88_HUMAN	WDR88	HGNC	.	.	UPI0000456C8B	SNV	WDR88,missense_variant,p.Arg308Leu,ENST00000355868,;WDR88,missense_variant,p.Arg308Leu,ENST00000361680,;	999	25	39	SUCCESS
PPP1R15A	23645	.	GRCh37	19	49379178	49379178	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767917201	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	53	0	ENST00000200453.5:c.1973G>A	p.Arg658His	p.R658H	ENST00000200453	NM_014330.3	658	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12738.1	1973	RADIA|VARSCANS	.	TTCCCGCTCGT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000200453	.	3/3	.	.	.	.	.	.	.	.	rs767917201	3/3	PASS	ENST00000200453	Transcript	.	.	ENSG00000087074	14375	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.56)	.	PR15A_HUMAN	PPP1R15A	HGNC	.	.	UPI000006F652	SNV	PPP1R15A,missense_variant,p.Arg658His,ENST00000200453,;PPP1R15A,3_prime_UTR_variant,,ENST00000600406,;	2242	53	44	SUCCESS
KLK1	3816	.	GRCh37	19	51323553	51323553	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	14	90	0	ENST00000301420.2:c.353G>C	p.Ser118Thr	p.S118T	ENST00000301420	NM_002257.3	118	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS12804.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGCTGTAG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF14,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000301420	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000301420	Transcript	1	.	ENSG00000167748	6357	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KLK1_HUMAN	KLK1	HGNC	Q9UE84_HUMAN,F8WAM8_HUMAN	.	UPI000004CA0D	SNV	KLK1,missense_variant,p.Ser118Thr,ENST00000301420,;KLK1,missense_variant,p.Ser16Thr,ENST00000448701,;KLK15,downstream_gene_variant,,ENST00000301421,;KLK15,downstream_gene_variant,,ENST00000416184,;CTD-2568A17.5,downstream_gene_variant,,ENST00000326989,;CTD-2568A17.5,downstream_gene_variant,,ENST00000593632,;KLK1,3_prime_UTR_variant,,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK1,non_coding_transcript_exon_variant,,ENST00000596300,;KLK15,downstream_gene_variant,,ENST00000601680,;	389	90	104	SUCCESS
ZNF578	147660	.	GRCh37	19	53015353	53015353	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	37	0	ENST00000421239.2:c.1719T>A	p.Gly573=	p.G573=	ENST00000421239	NM_001099694.1	573	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54310.1	1719	RADIA|VARSCANS	.	TGTGGTAAGGC	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,synonymous_variant,p.%3D,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,intron_variant,,ENST00000599143,;	1963	37	34	SUCCESS
SSC5D	284297	.	GRCh37	19	56029520	56029520	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	30	212	0	ENST00000389623.6:c.3877C>T	p.Pro1293Ser	p.P1293S	ENST00000389623	NM_001144950.1	1293	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46196.1	3877	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCCCTCAC	BUFFER|p.H1294Y|c.3880C>T|3	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000374274	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000389623	Transcript	.	.	ENSG00000179954	26641	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	SRCRL_HUMAN	SSC5D	HGNC	M0QZ17_HUMAN	.	UPI000192952A	SNV	SSC5D,missense_variant,p.Pro1293Ser,ENST00000389623,;	3900	212	134	SUCCESS
PRAM1	84106	.	GRCh37	19	8563670	8563670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	72	0	ENST00000423345.4:c.1022T>C	p.Leu341Pro	p.L341P	ENST00000423345		341	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS45954.2	1022	RADIA|VARSCANS	.	TGGGGAGTGAG	NONE	.	.	hmmpanther:PTHR16830:SF6,hmmpanther:PTHR16830	.	.	ENSP00000408342	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000423345	Transcript	.	.	ENSG00000133246	30091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.222)	.	deleterious(0.02)	.	PRAM_HUMAN	PRAM1	HGNC	.	.	UPI00001AE786	SNV	PRAM1,missense_variant,p.Leu341Pro,ENST00000255612,;PRAM1,missense_variant,p.Leu341Pro,ENST00000423345,;PRAM1,downstream_gene_variant,,ENST00000600262,;	1543	72	40	SUCCESS
HFE2	0	.	GRCh37	1	145414811	145414811	+	synonymous_variant	Silent	SNP	C	C	T	rs782076129	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	56	0	ENST00000336751.5:c.30C>T	p.Pro10=	p.P10=	ENST00000336751	NM_213653.3	10	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS910.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCAGGTC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR31428:SF3,hmmpanther:PTHR31428	.	.	ENSP00000337014	.	2/4	.	.	.	.	.	.	.	.	rs782076129	2/4	PASS	ENST00000336751	Transcript	.	.	ENSG00000168509	4887	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGMC_HUMAN	HFE2	HGNC	F8W6J7_HUMAN,A8K466_HUMAN	.	UPI000013EB58	SNV	HFE2,synonymous_variant,p.%3D,ENST00000336751,;HFE2,synonymous_variant,p.%3D,ENST00000421822,;HFE2,intron_variant,,ENST00000475797,;HFE2,intron_variant,,ENST00000497365,;HFE2,intron_variant,,ENST00000357836,;	268	56	69	SUCCESS
CKS1B	1163	.	GRCh37	1	154947279	154947279	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	48	128	0	ENST00000308987.5:c.58C>T	p.Arg20Ter	p.R20*	ENST00000308987	NM_001826.2	20	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS1077.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATCGGTTA	NONE	.	.	hmmpanther:PTHR23415,PROSITE_patterns:PS00944,Pfam_domain:PF01111,Gene3D:3.30.170.10,SMART_domains:SM01084,Superfamily_domains:SSF55637,Prints_domain:PR00296	.	.	ENSP00000311083	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308987	Transcript	.	.	ENSG00000173207	19083	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CKS1_HUMAN	CKS1B	HGNC	Q5T178_HUMAN,D3DV79_HUMAN	.	UPI0000003ED9	SNV	CKS1B,stop_gained,p.Arg20Ter,ENST00000308987,;CKS1B,stop_gained,p.Arg20Ter,ENST00000368436,;CKS1B,5_prime_UTR_variant,,ENST00000368439,;SHC1,upstream_gene_variant,,ENST00000448116,;SHC1,upstream_gene_variant,,ENST00000368445,;SHC1,upstream_gene_variant,,ENST00000368453,;SHC1,upstream_gene_variant,,ENST00000412170,;SHC1,upstream_gene_variant,,ENST00000368449,;SHC1,upstream_gene_variant,,ENST00000606391,;SHC1,upstream_gene_variant,,ENST00000366442,;SHC1,upstream_gene_variant,,ENST00000368450,;MIR4258,upstream_gene_variant,,ENST00000580920,;CKS1B,upstream_gene_variant,,ENST00000471245,;CKS1B,upstream_gene_variant,,ENST00000477676,;CKS1B,upstream_gene_variant,,ENST00000474215,;CKS1B,upstream_gene_variant,,ENST00000473344,;	105	128	156	SUCCESS
IFI16	3428	.	GRCh37	1	158984635	158984635	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	52	232	0	ENST00000295809.7:c.165G>C	p.Lys55Asn	p.K55N	ENST00000295809		55	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS1180.3	165	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGTTCCG	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR12200:SF5,hmmpanther:PTHR12200,Pfam_domain:PF02758	.	.	ENSP00000357113	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000368131	Transcript	.	.	ENSG00000163565	5395	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.493)	.	deleterious(0.03)	.	IF16_HUMAN	IFI16	HGNC	H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN	.	UPI00001412C9	SNV	IFI16,missense_variant,p.Lys55Asn,ENST00000295809,;IFI16,missense_variant,p.Lys55Asn,ENST00000340979,;IFI16,missense_variant,p.Lys59Asn,ENST00000430894,;IFI16,missense_variant,p.Lys55Asn,ENST00000368132,;IFI16,missense_variant,p.Lys55Asn,ENST00000368131,;IFI16,missense_variant,p.Lys55Asn,ENST00000566111,;IFI16,missense_variant,p.Lys55Asn,ENST00000448393,;IFI16,missense_variant,p.Lys55Asn,ENST00000426592,;IFI16,missense_variant,p.Lys55Asn,ENST00000359709,;IFI16,missense_variant,p.Lys55Asn,ENST00000447473,;IFI16,upstream_gene_variant,,ENST00000567661,;IFI16,upstream_gene_variant,,ENST00000474473,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;	455	232	231	SUCCESS
RASAL2	9462	.	GRCh37	1	178420786	178420786	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	61	0	ENST00000462775.1:c.1264G>A	p.Asp422Asn	p.D422N	ENST00000462775	NM_004841.3	422	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1321.2	1708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATAGACCAT	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF00616,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000356621	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.477)	.	tolerated(0.11)	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,missense_variant,p.Asp422Asn,ENST00000462775,;RASAL2,missense_variant,p.Asp570Asn,ENST00000367649,;RASAL2,missense_variant,p.Asp552Asn,ENST00000448150,;RASAL2,upstream_gene_variant,,ENST00000433130,;RASAL2,upstream_gene_variant,,ENST00000463079,;	2060	61	50	SUCCESS
LHX9	56956	.	GRCh37	1	197890497	197890497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	29	0	ENST00000367387.4:c.441G>T	p.Met147Ile	p.M147I	ENST00000367387	NM_020204.2	147	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1393.1	441	RADIA|VARSCANS	.	GTCATGCGCGC	BUFFER|p.R141Q|c.422G>A|3,BUFFER|p.R150Q|c.449G>A|3	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF95,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000356357	.	3/5	.	.	.	.	.	.	.	.	.	3/5	oxog	ENST00000367387	Transcript	.	.	ENSG00000143355	14222	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	LHX9_HUMAN	LHX9	HGNC	.	.	UPI00001B6453	SNV	LHX9,missense_variant,p.Met147Ile,ENST00000367387,;LHX9,missense_variant,p.Met138Ile,ENST00000367390,;LHX9,missense_variant,p.Met153Ile,ENST00000561173,;LHX9,missense_variant,p.Met138Ile,ENST00000367391,;LHX9,missense_variant,p.Met147Ile,ENST00000337020,;LHX9,downstream_gene_variant,,ENST00000367388,;LHX9,downstream_gene_variant,,ENST00000606127,;LHX9,downstream_gene_variant,,ENST00000475727,;	866	29	36	SUCCESS
IPO9	55705	.	GRCh37	1	201832722	201832722	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775534568	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	47	0	ENST00000361565.4:c.1615A>G	p.Arg539Gly	p.R539G	ENST00000361565	NM_018085.4	539	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS1415.1	1615	RADIA|VARSCANS	.	CAGTGAGAGCC	NONE	byFrequency	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354742	.	14/24	.	.	.	.	.	.	.	.	rs775534568	14/24	PASS	ENST00000361565	Transcript	.	.	ENSG00000198700	19425	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	IPO9_HUMAN	IPO9	HGNC	.	.	UPI000007304B	SNV	IPO9,missense_variant,p.Arg539Gly,ENST00000361565,;	1684	47	37	SUCCESS
KDM5B	10765	.	GRCh37	1	202710671	202710671	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	38	0	ENST00000367265.3:c.2769G>A	p.Val923=	p.V923=	ENST00000367265	NM_006618.3	923	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS30974.1	2769	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCACCTC	NONE	.	.	Pfam_domain:PF08429,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3	.	.	ENSP00000356234	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000367265	Transcript	.	.	ENSG00000117139	18039	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KDM5B_HUMAN	KDM5B	HGNC	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN	.	UPI0000032AA2	SNV	KDM5B,synonymous_variant,p.%3D,ENST00000235790,;KDM5B,synonymous_variant,p.%3D,ENST00000367264,;KDM5B,synonymous_variant,p.%3D,ENST00000367265,;KDM5B,downstream_gene_variant,,ENST00000498276,;	3934	38	40	SUCCESS
MECR	51102	.	GRCh37	1	29543106	29543106	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	44	0	ENST00000263702.6:c.268A>G	p.Ile90Val	p.I90V	ENST00000263702		90	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS30659.1	268	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTGGATCATAT	NONE	.	.	hmmpanther:PTHR11695:SF15,hmmpanther:PTHR11695,Gene3D:3.90.180.10,Pfam_domain:PF08240,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000263702	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000263702	Transcript	.	.	ENSG00000116353	19691	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.035)	.	tolerated(0.11)	.	MECR_HUMAN	MECR	HGNC	.	.	UPI000013D444	SNV	MECR,missense_variant,p.Ile14Val,ENST00000373791,;MECR,missense_variant,p.Ile90Val,ENST00000263702,;MECR,non_coding_transcript_exon_variant,,ENST00000478505,;MECR,non_coding_transcript_exon_variant,,ENST00000482610,;MECR,non_coding_transcript_exon_variant,,ENST00000475861,;MECR,non_coding_transcript_exon_variant,,ENST00000473030,;MECR,non_coding_transcript_exon_variant,,ENST00000490529,;MECR,non_coding_transcript_exon_variant,,ENST00000464915,;MECR,non_coding_transcript_exon_variant,,ENST00000474946,;MECR,non_coding_transcript_exon_variant,,ENST00000489248,;MECR,non_coding_transcript_exon_variant,,ENST00000463052,;MECR,downstream_gene_variant,,ENST00000484012,;MECR,downstream_gene_variant,,ENST00000493928,;MECR,upstream_gene_variant,,ENST00000463412,;	294	44	15	SUCCESS
AGO1	26523	.	GRCh37	1	36348954	36348954	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	18	0	ENST00000373204.4:c.-69G>T		p.*23*	ENST00000373204	NM_012199.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS398.1	.	RADIA|VARSCANS	.	GTGTGGGGTAC	NONE	.	.	.	.	.	ENSP00000362300	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000373204	Transcript	.	.	ENSG00000092847	3262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AGO1_HUMAN	AGO1	HGNC	Q5TA58_HUMAN	.	UPI000012D07D	SNV	AGO1,5_prime_UTR_variant,,ENST00000373204,;AGO1,intron_variant,,ENST00000373206,;	145	18	24	SUCCESS
LRRC7	57554	.	GRCh37	1	70501869	70501869	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	67	0	ENST00000035383.5:c.1947C>T	p.Thr649=	p.T649=	ENST00000035383	NM_020794.2	649	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS645.1	1947	RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCCCTCT	NONE	.	.	.	.	.	ENSP00000035383	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,synonymous_variant,p.%3D,ENST00000035383,;LRRC7,synonymous_variant,p.%3D,ENST00000310961,;LRRC7,intron_variant,,ENST00000415775,;RP11-181B18.1,upstream_gene_variant,,ENST00000414132,;	1977	67	67	SUCCESS
FLRT3	23767	.	GRCh37	20	14306475	14306475	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	30	138	0	ENST00000341420.4:c.1678T>A	p.Ser560Thr	p.S560T	ENST00000341420	NM_198391.2	560	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS13121.1	1678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGAAGA	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF4	.	.	ENSP00000367292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378053	Transcript	1	.	ENSG00000125848	3762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.35)	.	FLRT3_HUMAN	FLRT3	HGNC	.	.	UPI0000001BE7	SNV	FLRT3,missense_variant,p.Ser560Thr,ENST00000378053,;FLRT3,missense_variant,p.Ser560Thr,ENST00000341420,;MACROD2,intron_variant,,ENST00000217246,;MACROD2,intron_variant,,ENST00000310348,;MACROD2,intron_variant,,ENST00000490428,;MACROD2,intron_variant,,ENST00000494602,;MACROD2,intron_variant,,ENST00000477147,;FLRT3,downstream_gene_variant,,ENST00000462077,;	1935	138	144	SUCCESS
RIMS4	140730	.	GRCh37	20	43384815	43384815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	28	0	ENST00000372851.3:c.770C>T	p.Ser257Phe	p.S257F	ENST00000372851	NM_001205317.1	257	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS56191.1	773	RADIA|VARSCANS	.	CGAGGGACAAC	NONE	.	.	hmmpanther:PTHR12157	.	.	ENSP00000439287	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000541604	Transcript	.	.	ENSG00000101098	16183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious_low_confidence(0)	.	RIMS4_HUMAN	RIMS4	HGNC	.	.	UPI0000367043	SNV	RIMS4,missense_variant,p.Ser258Phe,ENST00000541604,;RIMS4,missense_variant,p.Ser257Phe,ENST00000372851,;	773	28	43	SUCCESS
HELZ2	85441	.	GRCh37	20	62198260	62198260	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	27	0	ENST00000467148.1:c.2451C>A	p.Thr817=	p.T817=	ENST00000467148	NM_001037335.2	817	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33508.1	2451	RADIA|VARSCANS	.	GGCCAGGTGTT	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Pfam_domain:PF13087,Superfamily_domains:SSF52540	.	.	ENSP00000417401	.	6/19	.	.	.	.	.	.	.	.	.	6/19	oxog	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,synonymous_variant,p.%3D,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	2521	27	20	SUCCESS
MYT1	4661	.	GRCh37	20	62839474	62839474	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200028860	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	16	0	ENST00000328439.1:c.925C>A	p.Pro309Thr	p.P309T	ENST00000328439	NM_004535.2	309	Cct/Act	0	.	T:0	.	T:0.0014	.	A	P/T	protein_coding	YES	CCDS13558.1	925	RADIA|MUTECT|VARSCANS	.	CAGCTCCTGAT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10,Coiled-coils_(Ncoils):Coil	T:0	.	ENSP00000327465	T:0	7/23	.	.	.	.	.	.	.	.	rs200028860	7/23	PASS	ENST00000328439	Transcript	.	T:0.0002	ENSG00000196132	7622	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.114)	T:0	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,missense_variant,p.Pro309Thr,ENST00000536311,;MYT1,missense_variant,p.Pro309Thr,ENST00000328439,;MYT1,intron_variant,,ENST00000360149,;	1289	16	22	SUCCESS
GUCD1	83606	.	GRCh37	22	24939007	24939007	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	52	1	ENST00000407471.3:c.690T>C	p.Asp230=	p.D230=	ENST00000407471	NM_001284251.1	230	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS33621.1	690	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCATCTGT	NONE	.	.	Pfam_domain:PF09778,hmmpanther:PTHR31400	.	.	ENSP00000386076	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000407471	Transcript	.	.	ENSG00000138867	14237	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GUCD1_HUMAN	GUCD1	HGNC	B5MCF3_HUMAN	.	UPI00003FF9EE	SNV	GUCD1,synonymous_variant,p.%3D,ENST00000404664,;GUCD1,synonymous_variant,p.%3D,ENST00000407471,;GUCD1,synonymous_variant,p.%3D,ENST00000435822,;GUCD1,3_prime_UTR_variant,,ENST00000402766,;GUCD1,3_prime_UTR_variant,,ENST00000447813,;GUCD1,downstream_gene_variant,,ENST00000407973,;GUCD1,non_coding_transcript_exon_variant,,ENST00000493099,;GUCD1,intron_variant,,ENST00000490922,;GUCD1,downstream_gene_variant,,ENST00000490810,;GUCD1,synonymous_variant,p.%3D,ENST00000398245,;GUCD1,downstream_gene_variant,,ENST00000468170,;GUCD1,downstream_gene_variant,,ENST00000480272,;	881	53	53	SUCCESS
SF3A1	10291	.	GRCh37	22	30733807	30733807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	47	0	ENST00000215793.8:c.1823T>C	p.Leu608Pro	p.L608P	ENST00000215793	NM_005877.4	608	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS13875.1	1823	RADIA|VARSCANS	.	GGGGCAGCCGG	NONE	.	.	hmmpanther:PTHR15316	.	.	ENSP00000215793	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000215793	Transcript	.	.	ENSG00000099995	10765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.601)	.	tolerated(0.22)	.	SF3A1_HUMAN	SF3A1	HGNC	.	.	UPI0000000C88	SNV	SF3A1,missense_variant,p.Leu608Pro,ENST00000215793,;SF3A1,missense_variant,p.Leu259Pro,ENST00000444440,;SF3A1,missense_variant,p.Leu543Pro,ENST00000439242,;SF3A1,3_prime_UTR_variant,,ENST00000411423,;SF3A1,downstream_gene_variant,,ENST00000498259,;SF3A1,downstream_gene_variant,,ENST00000485618,;SF3A1,downstream_gene_variant,,ENST00000471037,;SF3A1,downstream_gene_variant,,ENST00000447376,;	1978	47	34	SUCCESS
REV1	51455	.	GRCh37	2	100019252	100019253	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	22	0	ENST00000258428.3:c.3395_3396del	p.Ser1132CysfsTer11	p.S1132Cfs*11	ENST00000258428	NM_001037872.1	1132	tCT/t	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS2045.1	3395-3396	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGCAGAGAGT	NONE	.	.	PIRSF_domain:PIRSF036573	.	.	ENSP00000258428	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000258428	Transcript	.	.	ENSG00000135945	14060	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REV1_HUMAN	REV1	HGNC	.	.	UPI0000073A14	deletion	REV1,frameshift_variant,p.Ser1132CysfsTer11,ENST00000258428,;REV1,frameshift_variant,p.Ser1131CysfsTer11,ENST00000393445,;EIF5B,downstream_gene_variant,,ENST00000289371,;RP11-527J8.1,upstream_gene_variant,,ENST00000608144,;REV1,intron_variant,,ENST00000482595,;REV1,downstream_gene_variant,,ENST00000465835,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000465086,;REV1,downstream_gene_variant,,ENST00000472000,;REV1,downstream_gene_variant,,ENST00000485487,;EIF5B,downstream_gene_variant,,ENST00000470023,;REV1,downstream_gene_variant,,ENST00000477121,;REV1,downstream_gene_variant,,ENST00000438366,;EIF5B,downstream_gene_variant,,ENST00000494190,;	3624-3625	22	61	SUCCESS
MARCO	8685	.	GRCh37	2	119739211	119739211	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1222641496	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	73	0	ENST00000327097.4:c.880C>T	p.Pro294Ser	p.P294S	ENST00000327097	NM_006770.3	294	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2124.1	880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTCCTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000318916	.	10/17	.	.	.	.	.	.	.	.	COSM3894626	10/17	PASS	ENST00000327097	Transcript	.	.	ENSG00000019169	6895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.876)	.	tolerated(0.07)	1	MARCO_HUMAN	MARCO	HGNC	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN	.	UPI0000000DF8	SNV	MARCO,missense_variant,p.Pro294Ser,ENST00000327097,;MARCO,missense_variant,p.Pro216Ser,ENST00000541757,;	1015	74	85	SUCCESS
THSD7B	80731	.	GRCh37	2	137988754	137988754	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	74	0	ENST00000272643.3:c.1864T>C	p.Ser622Pro	p.S622P	ENST00000272643		622	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	.	1864	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTCAGAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000272643	.	7/28	.	.	.	.	.	.	.	.	.	7/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.82)	.	deleterious(0.01)	.	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Ser622Pro,ENST00000409968,;THSD7B,missense_variant,p.Ser591Pro,ENST00000413152,;THSD7B,missense_variant,p.Ser622Pro,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;	1864	74	82	SUCCESS
MYO3B	140469	.	GRCh37	2	171358299	171358299	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777829010	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	44	0	ENST00000408978.4:c.3294G>T	p.Trp1098Cys	p.W1098C	ENST00000408978	NM_138995.4	1098	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS42773.1	3294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGAGAGG	NONE	byCluster	.	Superfamily_domains:SSF52540,SMART_domains:SM00015,Pfam_domain:PF00612,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS50096	.	.	ENSP00000386213	.	28/35	.	.	.	.	.	.	.	.	rs777829010	28/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.15)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Trp1098Cys,ENST00000408978,;MYO3B,missense_variant,p.Trp1107Cys,ENST00000334231,;MYO3B,intron_variant,,ENST00000409044,;MYO3B,downstream_gene_variant,,ENST00000484338,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,intron_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;MYO3B,intron_variant,,ENST00000317935,;	3437	44	38	SUCCESS
TTN	7273	.	GRCh37	2	179407524	179407524	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1250490166	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	16	95	0	ENST00000591111.1:c.92134G>A	p.Val30712Ile	p.V30712I	ENST00000591111		30712	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS59435.1	97057	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGACACGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	348/363	.	.	.	.	.	.	.	.	.	348/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val23413Ile,ENST00000359218,;TTN,missense_variant,p.Val30712Ile,ENST00000591111,;TTN,missense_variant,p.Val32353Ile,ENST00000589042,;TTN,missense_variant,p.Val23480Ile,ENST00000342175,;TTN,missense_variant,p.Val29785Ile,ENST00000342992,;TTN,missense_variant,p.Val23288Ile,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,downstream_gene_variant,,ENST00000585358,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000589391,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000592182,;TTN-AS1,downstream_gene_variant,,ENST00000450692,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000588244,;TTN-AS1,downstream_gene_variant,,ENST00000588804,;TTN-AS1,downstream_gene_variant,,ENST00000585487,;	97282	95	102	SUCCESS
APOB	338	.	GRCh37	2	21235442	21235442	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs200708197	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	64	0	ENST00000233242.1:c.4298C>A	p.Ser1433Ter	p.S1433*	ENST00000233242	NM_000384.2	1433	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS1703.1	4298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCGAATCT	CODON|p.S1433L|c.4298C>T|4	byCluster	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	rs200708197,COSM274013	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,stop_gained,p.Ser1433Ter,ENST00000233242,;	4426	64	68	SUCCESS
CNPPD1	27013	.	GRCh37	2	220037368	220037368	+	synonymous_variant	Silent	SNP	T	T	C	rs779568915	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	40	0	ENST00000360507.5:c.1173A>G	p.Gln391=	p.Q391=	ENST00000360507	NM_015680.4	391	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS2433.1	1173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15615,hmmpanther:PTHR15615:SF0	.	.	ENSP00000386277	.	9/9	.	.	.	.	.	.	.	.	rs779568915	9/9	PASS	ENST00000409789	Transcript	.	.	ENSG00000115649	25220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPD1_HUMAN	CNPPD1	HGNC	C9JF31_HUMAN	.	UPI000013D5FA	SNV	CNPPD1,synonymous_variant,p.%3D,ENST00000409789,;CNPPD1,synonymous_variant,p.%3D,ENST00000360507,;SLC23A3,upstream_gene_variant,,ENST00000430764,;SLC23A3,upstream_gene_variant,,ENST00000409878,;SLC23A3,upstream_gene_variant,,ENST00000455516,;CNPPD1,downstream_gene_variant,,ENST00000453038,;SLC23A3,upstream_gene_variant,,ENST00000295738,;SLC23A3,upstream_gene_variant,,ENST00000396775,;CNPPD1,downstream_gene_variant,,ENST00000451647,;SLC23A3,upstream_gene_variant,,ENST00000409370,;FAM134A,upstream_gene_variant,,ENST00000458520,;SLC23A3,upstream_gene_variant,,ENST00000497918,;SLC23A3,upstream_gene_variant,,ENST00000498327,;SLC23A3,upstream_gene_variant,,ENST00000465580,;SLC23A3,upstream_gene_variant,,ENST00000421779,;SLC23A3,upstream_gene_variant,,ENST00000414999,;SLC23A3,upstream_gene_variant,,ENST00000318673,;SLC23A3,upstream_gene_variant,,ENST00000461812,;	1601	40	34	SUCCESS
MLPH	79083	.	GRCh37	2	238434305	238434305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	37	0	ENST00000264605.3:c.737A>T	p.Glu246Val	p.E246V	ENST00000264605	NM_024101.6	246	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS2518.1	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGAGGCTG	NONE	.	.	hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF1	.	.	ENSP00000264605	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000264605	Transcript	.	.	ENSG00000115648	29643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	deleterious(0)	.	MELPH_HUMAN	MLPH	HGNC	Q53QV8_HUMAN,Q53QF3_HUMAN,C9JKV5_HUMAN,C9JI01_HUMAN	.	UPI00000730BF	SNV	MLPH,missense_variant,p.Glu246Val,ENST00000445024,;MLPH,missense_variant,p.Glu206Val,ENST00000409373,;MLPH,missense_variant,p.Glu246Val,ENST00000264605,;MLPH,missense_variant,p.Arg53Trp,ENST00000437893,;MLPH,missense_variant,p.Glu246Val,ENST00000338530,;MLPH,intron_variant,,ENST00000410032,;MLPH,upstream_gene_variant,,ENST00000436965,;MLPH,upstream_gene_variant,,ENST00000415753,;MLPH,non_coding_transcript_exon_variant,,ENST00000485956,;MLPH,non_coding_transcript_exon_variant,,ENST00000468178,;MLPH,non_coding_transcript_exon_variant,,ENST00000495439,;MLPH,non_coding_transcript_exon_variant,,ENST00000464123,;MLPH,non_coding_transcript_exon_variant,,ENST00000494110,;MLPH,non_coding_transcript_exon_variant,,ENST00000478712,;MLPH,upstream_gene_variant,,ENST00000482528,;	1031	37	48	SUCCESS
HDLBP	3069	.	GRCh37	2	242174629	242174629	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	33	0	ENST00000391975.1:c.3051C>A	p.Ile1017=	p.I1017=	ENST00000391975	NM_203346.3	1017	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS2547.1	3051	RADIA|VARSCANS	.	GCGATGATGTC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000375836	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000391975	Transcript	.	.	ENSG00000115677	4857	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VIGLN_HUMAN	HDLBP	HGNC	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN	.	UPI00001AEF85	SNV	HDLBP,synonymous_variant,p.%3D,ENST00000310931,;HDLBP,synonymous_variant,p.%3D,ENST00000427183,;HDLBP,synonymous_variant,p.%3D,ENST00000373292,;HDLBP,synonymous_variant,p.%3D,ENST00000391976,;HDLBP,synonymous_variant,p.%3D,ENST00000391975,;HDLBP,upstream_gene_variant,,ENST00000442730,;HDLBP,downstream_gene_variant,,ENST00000427487,;HDLBP,downstream_gene_variant,,ENST00000452931,;HDLBP,non_coding_transcript_exon_variant,,ENST00000470482,;HDLBP,non_coding_transcript_exon_variant,,ENST00000483086,;HDLBP,upstream_gene_variant,,ENST00000484412,;HDLBP,downstream_gene_variant,,ENST00000471294,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479894,;HDLBP,upstream_gene_variant,,ENST00000488013,;HDLBP,downstream_gene_variant,,ENST00000459788,;HDLBP,downstream_gene_variant,,ENST00000479169,;	3279	33	38	SUCCESS
CCDC80	151887	.	GRCh37	3	112358316	112358316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	30	0	ENST00000206423.3:c.437C>A	p.Ala146Glu	p.A146E	ENST00000206423	NM_199512.1	146	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS2968.1	437	RADIA|MUTECT|VARSCANS	.	TCCCTGCAAAG	NONE	.	.	Pfam_domain:PF13778	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.96)	.	deleterious(0.03)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Ala146Glu,ENST00000206423,;CCDC80,missense_variant,p.Ala146Glu,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,non_coding_transcript_exon_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	1391	30	37	SUCCESS
KIAA2018	0	.	GRCh37	3	113375509	113375509	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	36	0	ENST00000316407.4:c.5020A>G	p.Ile1674Val	p.I1674V	ENST00000316407	NM_001009899.2	1674	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43133.1	5020	RADIA|MUTECT|VARSCANS	.	TCCAATGAGTG	NONE	.	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,missense_variant,p.Ile1674Val,ENST00000478658,;KIAA2018,missense_variant,p.Ile1674Val,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	5431	36	38	SUCCESS
ADCY5	111	.	GRCh37	3	123018993	123018993	+	synonymous_variant	Silent	SNP	G	G	T	rs762871171	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	28	0	ENST00000462833.1:c.2874C>A	p.Ala958=	p.A958=	ENST00000462833	NM_183357.2	958	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3022.1	2874	RADIA|VARSCANS	.	AGGTCGGCGTT	NONE	byFrequency	.	hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	.	.	ENSP00000419361	.	15/21	.	.	.	.	.	.	.	.	rs762871171	15/21	oxog	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,synonymous_variant,p.%3D,ENST00000462833,;ADCY5,synonymous_variant,p.%3D,ENST00000491190,;ADCY5,synonymous_variant,p.%3D,ENST00000309879,;ADCY5,downstream_gene_variant,,ENST00000466617,;ADCY5,non_coding_transcript_exon_variant,,ENST00000474577,;ADCY5,downstream_gene_variant,,ENST00000468683,;	4087	28	34	SUCCESS
NPHP3	27031	.	GRCh37	3	132418877	132418878	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	22	0	ENST00000337331.5:c.1771_1772delinsT	p.Ala591PhefsTer2	p.A591Ffs*2	ENST00000337331	NM_153240.4	591	GCt/Tt	0	.	.	.	.	.	A	A/X	protein_coding	YES	CCDS3078.1	1771-1772	RADIA*|PINDEL|VARSCANS*	.	GTCAGAGCAGAGA	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF05729,Gene3D:3.40.50.300,hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959	.	.	ENSP00000338766	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000337331	Transcript	.	.	ENSG00000113971	7907	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPHP3_HUMAN	NPHP3	HGNC	.	.	UPI00001B6B30	substitution	NPHP3,frameshift_variant,p.Ala591PhefsTer2,ENST00000326682,;NPHP3,frameshift_variant,p.Ala591PhefsTer2,ENST00000337331,;NPHP3,frameshift_variant,p.Ala591PhefsTer2,ENST00000471702,;NPHP3,frameshift_variant,p.Ala493PhefsTer2,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000469232,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;NPHP3,upstream_gene_variant,,ENST00000515289,;	1858-1859	22	32	SUCCESS
SNRK	54861	.	GRCh37	3	43373848	43373848	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	18	0	ENST00000296088.7:c.731+46A>G		p.*244*	ENST00000296088	NM_017719.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43075.1	.	RADIA|VARSCANS	.	TTAAAACCAGA	NONE	.	.	.	.	.	ENSP00000296088	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296088	Transcript	.	.	ENSG00000163788	30598	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNRK_HUMAN	SNRK	HGNC	E7EUC4_HUMAN	.	UPI00000558E4	SNV	SNRK,intron_variant,,ENST00000296088,;SNRK,intron_variant,,ENST00000454177,;SNRK,intron_variant,,ENST00000437827,;SNRK,intron_variant,,ENST00000429705,;SNRK,non_coding_transcript_exon_variant,,ENST00000462810,;SNRK,intron_variant,,ENST00000484791,;	.	18	29	SUCCESS
UCN2	90226	.	GRCh37	3	48600437	48600437	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs149022309	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	66	0	ENST00000273610.3:c.121C>T	p.Arg41Ter	p.R41*	ENST00000273610	NM_033199.3	41	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS2772.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGGGGAG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17575,hmmpanther:PTHR17575:SF0	.	A:0.0001	ENSP00000273610	.	2/2	.	.	.	.	.	.	.	.	rs149022309	2/2	PASS	ENST00000273610	Transcript	.	.	ENSG00000145040	18414	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCN2_HUMAN	UCN2	HGNC	.	.	UPI0000137A2C	SNV	UCN2,stop_gained,p.Arg41Ter,ENST00000273610,;PFKFB4,upstream_gene_variant,,ENST00000452531,;PFKFB4,upstream_gene_variant,,ENST00000536104,;PFKFB4,upstream_gene_variant,,ENST00000422701,;COL7A1,downstream_gene_variant,,ENST00000328333,;COL7A1,downstream_gene_variant,,ENST00000454817,;PFKFB4,upstream_gene_variant,,ENST00000496767,;COL7A1,downstream_gene_variant,,ENST00000470076,;PFKFB4,upstream_gene_variant,,ENST00000467176,;COL7A1,downstream_gene_variant,,ENST00000487017,;COL7A1,downstream_gene_variant,,ENST00000466591,;COL7A1,downstream_gene_variant,,ENST00000474432,;COL7A1,downstream_gene_variant,,ENST00000459756,;COL7A1,downstream_gene_variant,,ENST00000465238,;	204	66	57	SUCCESS
RNF123	63891	.	GRCh37	3	49738928	49738928	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369164501	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	30	0	ENST00000327697.6:c.1282G>T	p.Asp428Tyr	p.D428Y	ENST00000327697	NM_022064.3	428	Gac/Tac	0	A:0.0002	.	.	.	.	T	D/Y	protein_coding	YES	CCDS33758.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGACGTG	NONE	byCluster	.	hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1	.	A:0	ENSP00000328287	.	16/39	.	.	.	.	.	.	.	.	rs369164501	16/39	PASS	ENST00000327697	Transcript	.	.	ENSG00000164068	21148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	RN123_HUMAN	RNF123	HGNC	C9JN91_HUMAN	.	UPI00001D6A07	SNV	RNF123,missense_variant,p.Asp428Tyr,ENST00000327697,;RNF123,missense_variant,p.Asp282Tyr,ENST00000432042,;RNF123,downstream_gene_variant,,ENST00000454491,;RNF123,missense_variant,p.Asp428Tyr,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000494005,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000443204,;	1426	30	36	SUCCESS
TRAIP	10293	.	GRCh37	3	49869470	49869470	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs567150349	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	32	0	ENST00000331456.2:c.916C>T	p.Arg306Cys	p.R306C	ENST00000331456	NM_005879.2	306	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2806.1	916	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCGGAGCT	NONE	.	.	hmmpanther:PTHR22937:SF6,hmmpanther:PTHR22937	.	.	ENSP00000328203	.	11/15	.	.	.	.	.	.	.	.	rs567150349	11/15	PASS	ENST00000331456	Transcript	.	.	ENSG00000183763	30764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.06)	.	TRAIP_HUMAN	TRAIP	HGNC	A4UCT7_HUMAN	.	UPI000006FE67	SNV	TRAIP,missense_variant,p.Arg151Cys,ENST00000469027,;TRAIP,missense_variant,p.Arg306Cys,ENST00000331456,;TRAIP,non_coding_transcript_exon_variant,,ENST00000475495,;TRAIP,intron_variant,,ENST00000473195,;TRAIP,upstream_gene_variant,,ENST00000491060,;	1030	32	28	SUCCESS
HESX1	8820	.	GRCh37	3	57233897	57233897	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	59	0	ENST00000295934.3:c.50C>A	p.Ser17Ter	p.S17*	ENST00000295934	NM_003865.2	17	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS2881.1	50	RADIA|MUTECT|VARSCANS	.	AAGTTGAGGGT	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF306	.	.	ENSP00000295934	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000295934	Transcript	.	.	ENSG00000163666	4877	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HESX1_HUMAN	HESX1	HGNC	J3KR67_HUMAN	.	UPI000012C61F	SNV	HESX1,stop_gained,p.Ser17Ter,ENST00000473921,;HESX1,stop_gained,p.Ser17Ter,ENST00000295934,;HESX1,stop_gained,p.Ser17Ter,ENST00000495160,;	87	59	56	SUCCESS
GPR27	2850	.	GRCh37	3	71804004	71804004	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	28	0	ENST00000304411.2:c.804C>T	p.Arg268=	p.R268=	ENST00000304411	NM_018971.1	268	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2915.1	804	RADIA|VARSCANS	.	GCGCGCCGCCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR19268:SF6,hmmpanther:PTHR19268,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304411	Transcript	.	.	ENSG00000170837	4482	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR27_HUMAN	GPR27	HGNC	F1DAM3_HUMAN	.	UPI0000049802	SNV	GPR27,synonymous_variant,p.%3D,ENST00000304411,;EIF4E3,upstream_gene_variant,,ENST00000295612,;EIF4E3,upstream_gene_variant,,ENST00000448225,;EIF4E3,upstream_gene_variant,,ENST00000421769,;EIF4E3,upstream_gene_variant,,ENST00000496214,;	804	28	37	SUCCESS
C4orf51	646603	.	GRCh37	4	146650320	146650320	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	19	164	0	ENST00000438731.1:c.367-1G>T		p.X123_splice	ENST00000438731	NM_001080531.1	123		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47140.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTATAGGCACA	NONE	.	.	.	.	.	ENSP00000391404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000438731	Transcript	.	.	ENSG00000237136	37264	.	.	HIGH	3/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD051_HUMAN	C4orf51	HGNC	.	.	UPI0000DD7C19	SNV	C4orf51,splice_acceptor_variant,,ENST00000438731,;C4orf51,splice_acceptor_variant,,ENST00000511965,;C4orf51,upstream_gene_variant,,ENST00000510096,;C4orf51,upstream_gene_variant,,ENST00000508981,;	.	165	174	SUCCESS
C4orf51	646603	.	GRCh37	4	146650321	146650321	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	18	166	0	ENST00000438731.1:c.367G>T	p.Ala123Ser	p.A123S	ENST00000438731	NM_001080531.1	123	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47140.1	367	RADIA|MUTECT|MUSE|VARSCANS	.	TATAGGCACAT	NONE	.	.	.	.	.	ENSP00000391404	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000438731	Transcript	.	.	ENSG00000237136	37264	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.186)	.	tolerated(0.06)	.	CD051_HUMAN	C4orf51	HGNC	.	.	UPI0000DD7C19	SNV	C4orf51,missense_variant,p.Ala123Ser,ENST00000438731,;C4orf51,missense_variant,p.Ala83Ser,ENST00000511965,;C4orf51,upstream_gene_variant,,ENST00000510096,;C4orf51,upstream_gene_variant,,ENST00000508981,;	367	166	173	SUCCESS
NR3C2	4306	.	GRCh37	4	149115938	149115938	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	29	0	ENST00000344721.4:c.1973G>T	p.Cys658Phe	p.C658F	ENST00000344721		658	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS3772.1	1973	RADIA|VARSCANS	.	GTCTGCAAGCA	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24084:SF22,hmmpanther:PTHR24084,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000350815	.	4/9	.	.	.	.	.	.	.	.	.	4/9	oxog	ENST00000358102	Transcript	1	.	ENSG00000151623	7979	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.639)	.	deleterious(0)	.	.	NR3C2	HGNC	Q4W5E8_HUMAN,B0ZBF6_HUMAN	.	UPI000013DC6D	SNV	NR3C2,missense_variant,p.Cys658Phe,ENST00000358102,;NR3C2,missense_variant,p.Cys658Phe,ENST00000344721,;NR3C2,missense_variant,p.Cys662Phe,ENST00000355292,;NR3C2,missense_variant,p.Cys658Phe,ENST00000512865,;NR3C2,missense_variant,p.Cys662Phe,ENST00000511528,;RP11-76G10.1,intron_variant,,ENST00000514843,;NR3C2,non_coding_transcript_exon_variant,,ENST00000503313,;NR3C2,non_coding_transcript_exon_variant,,ENST00000504753,;NR3C2,missense_variant,p.Cys658Phe,ENST00000342437,;	2336	29	27	SUCCESS
HAUS3	79441	.	GRCh37	4	2242302	2242302	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs775294946	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	80	1	ENST00000243706.4:c.372A>C	p.Gln124His	p.Q124H	ENST00000243706	NM_024511.5	124	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS33941.1	372	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAATTGACA	NONE	byFrequency	.	hmmpanther:PTHR19378:SF0,hmmpanther:PTHR19378,Pfam_domain:PF14932	.	.	ENSP00000243706	.	2/5	.	.	.	.	.	.	.	.	rs775294946	2/5	PASS	ENST00000243706	Transcript	.	.	ENSG00000214367	28719	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HAUS3_HUMAN	HAUS3	HGNC	D6R993_HUMAN	.	UPI000020BA32	SNV	HAUS3,missense_variant,p.Gln124His,ENST00000243706,;HAUS3,missense_variant,p.Gln124His,ENST00000506763,;HAUS3,missense_variant,p.Gln124His,ENST00000443786,;POLN,intron_variant,,ENST00000511885,;HAUS3,downstream_gene_variant,,ENST00000502440,;HAUS3,downstream_gene_variant,,ENST00000514395,;POLN,intron_variant,,ENST00000515357,;	602	81	100	SUCCESS
HTRA3	94031	.	GRCh37	4	8293156	8293156	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	63	0	ENST00000307358.2:c.768G>T	p.Val256=	p.V256=	ENST00000307358	NM_053044.3	256	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3400.1	768	RADIA|VARSCANS	.	TTTGTGGTGGC	NONE	.	.	Prints_domain:PR00834,Superfamily_domains:SSF50494,Pfam_domain:PF13365,Gene3D:2.40.10.10,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939	.	.	ENSP00000303766	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000307358	Transcript	.	.	ENSG00000170801	30406	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HTRA3_HUMAN	HTRA3	HGNC	.	.	UPI0000001647	SNV	HTRA3,synonymous_variant,p.%3D,ENST00000382512,;HTRA3,synonymous_variant,p.%3D,ENST00000307358,;	972	63	35	SUCCESS
COPS4	51138	.	GRCh37	4	83971134	83971134	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	33	0	ENST00000264389.2:c.407A>G	p.Gln136Arg	p.Q136R	ENST00000264389	NM_016129.2	136	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS3600.1	407	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACAAAAGT	NONE	.	.	hmmpanther:PTHR10855	.	.	ENSP00000264389	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000264389	Transcript	.	.	ENSG00000138663	16702	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.701)	.	tolerated(0.08)	.	CSN4_HUMAN	COPS4	HGNC	.	.	UPI0000037722	SNV	COPS4,missense_variant,p.Gln136Arg,ENST00000503682,;COPS4,missense_variant,p.Gln136Arg,ENST00000264389,;COPS4,missense_variant,p.Gln136Arg,ENST00000509093,;COPS4,missense_variant,p.Gln136Arg,ENST00000511653,;COPS4,intron_variant,,ENST00000509317,;COPS4,non_coding_transcript_exon_variant,,ENST00000510801,;COPS4,non_coding_transcript_exon_variant,,ENST00000506443,;COPS4,downstream_gene_variant,,ENST00000511708,;COPS4,downstream_gene_variant,,ENST00000507376,;COPS4,downstream_gene_variant,,ENST00000511891,;	542	33	32	SUCCESS
TMEM232	642987	.	GRCh37	5	109941886	109941886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	20	110	1	ENST00000455884.2:c.1005C>A	p.Ser335Arg	p.S335R	ENST00000455884		335	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS47253.2	1005	RADIA|MUTECT|MUSE|VARSCANS	.	ATAATGCTTGA	NONE	.	.	.	.	.	ENSP00000401477	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000455884	Transcript	.	.	ENSG00000186952	37270	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.889)	.	deleterious(0.03)	.	TM232_HUMAN	TMEM232	HGNC	D6REY3_HUMAN,D6RC30_HUMAN	.	UPI00017A7675	SNV	TMEM232,missense_variant,p.Ser335Arg,ENST00000429839,;TMEM232,missense_variant,p.Ser335Arg,ENST00000455884,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515363,;TMEM232,3_prime_UTR_variant,,ENST00000512003,;TMEM232,non_coding_transcript_exon_variant,,ENST00000508571,;	1056	111	131	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130841171	130841171	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	15	61	0	ENST00000509018.1:c.987T>A	p.Ser329Arg	p.S329R	ENST00000509018	NM_016340.5	329	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS54900.1	987	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGACTGAT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF171,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206	.	.	ENSP00000296859	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000296859	Transcript	.	.	ENSG00000158987	20655	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.59)	.	tolerated(0.18)	.	RPGF6_HUMAN	RAPGEF6	HGNC	D6RB02_HUMAN	.	UPI000189A836	SNV	RAPGEF6,missense_variant,p.Ser44Arg,ENST00000512052,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000307984,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000507093,;CTC-432M15.3,missense_variant,p.Ser379Arg,ENST00000514667,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000296859,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000509018,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000308008,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000510071,;RAPGEF6,downstream_gene_variant,,ENST00000504575,;RAPGEF6,downstream_gene_variant,,ENST00000504039,;RAPGEF6,downstream_gene_variant,,ENST00000513227,;RAPGEF6,missense_variant,p.Ser329Arg,ENST00000515170,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000514179,;	1068	61	97	SUCCESS
FNIP1	96459	.	GRCh37	5	131013351	131013351	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	32	0	ENST00000510461.1:c.1519+45T>A		p.*507*	ENST00000510461	NM_133372.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34227.1	.	RADIA|VARSCANS	.	TAGCTACAAAA	NONE	.	.	.	.	.	ENSP00000421985	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000510461	Transcript	.	.	ENSG00000217128	29418	.	.	MODIFIER	13/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FNIP1_HUMAN	FNIP1	HGNC	B3KX44_HUMAN	.	UPI00001AEE81	SNV	FNIP1,3_prime_UTR_variant,,ENST00000511848,;FNIP1,intron_variant,,ENST00000307968,;FNIP1,intron_variant,,ENST00000510461,;CTC-432M15.3,intron_variant,,ENST00000514667,;FNIP1,intron_variant,,ENST00000307954,;	.	32	32	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140772531	140772531	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772870041	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	36	0	ENST00000398604.2:c.151G>T	p.Asp51Tyr	p.D51Y	ENST00000398604	NM_032088.1	51	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS47291.1	151	RADIA|MUTECT|VARSCANS	.	CCAAGGACCTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	rs772870041	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious_low_confidence(0)	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Asp51Tyr,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	151	36	42	SUCCESS
GRXCR2	643226	.	GRCh37	5	145246178	145246178	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	86	0	ENST00000377976.1:c.450G>C	p.Glu150Asp	p.E150D	ENST00000377976	NM_001080516.1	150	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS34263.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10168:SF66,hmmpanther:PTHR10168	.	.	ENSP00000367214	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000377976	Transcript	1	.	ENSG00000204928	33862	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.48)	.	GRCR2_HUMAN	GRXCR2	HGNC	.	.	UPI00006C0979	SNV	GRXCR2,missense_variant,p.Glu150Asp,ENST00000377976,;	450	86	112	SUCCESS
NSD1	64324	.	GRCh37	5	176637052	176637052	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs888875191	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	44	0	ENST00000439151.2:c.1652T>C	p.Leu551Pro	p.L551P	ENST00000439151	NM_022455.4	551	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS4412.1	1652	RADIA|VARSCANS	.	TGAACTTTCCA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	.	.	ENSP00000395929	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Leu448Pro,ENST00000361032,;NSD1,missense_variant,p.Leu282Pro,ENST00000354179,;NSD1,missense_variant,p.Leu551Pro,ENST00000439151,;NSD1,missense_variant,p.Leu282Pro,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;	1697	44	41	SUCCESS
IRX1	79192	.	GRCh37	5	3600204	3600204	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs530506520	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	28	69	0	ENST00000302006.3:c.1142C>A	p.Ala381Glu	p.A381E	ENST00000302006	NM_024337.3	381	gCa/gAa	0	.	A:0	.	A:0	.	A	A/E	protein_coding	YES	CCDS34132.1	1142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGCACAGG	NONE	by1000G	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211	A:0.001	.	ENSP00000305244	A:0	2/4	.	.	.	.	.	.	.	.	rs530506520,COSM1186734	2/4	PASS	ENST00000302006	Transcript	.	A:0.0002	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.288)	A:0	tolerated(0.13)	0,1	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Ala381Glu,ENST00000302006,;CTD-2012M11.3,non_coding_transcript_exon_variant,,ENST00000559410,;	1194	69	97	SUCCESS
C5orf42	0	.	GRCh37	5	37227754	37227754	+	synonymous_variant	Silent	SNP	T	T	C	rs186540080	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	97	0	ENST00000425232.2:c.1287A>G	p.Leu429=	p.L429=	ENST00000425232	NM_023073.3	429	ctA/ctG	0	C:0	C:0.0008	.	C:0	.	C	L	protein_coding	YES	CCDS34146.2	1287	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATAGGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	C:0	C:0.0003	ENSP00000389014	C:0	10/52	.	.	.	.	.	.	.	.	rs186540080	10/52	PASS	ENST00000425232	Transcript	1	C:0.0002	ENSG00000197603	25801	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	CE042_HUMAN	C5orf42	HGNC	.	.	UPI0001AAB3EA	SNV	C5orf42,synonymous_variant,p.%3D,ENST00000508244,;C5orf42,synonymous_variant,p.%3D,ENST00000425232,;C5orf42,5_prime_UTR_variant,,ENST00000274258,;	1518	97	121	SUCCESS
DAB2	1601	.	GRCh37	5	39376177	39376177	+	synonymous_variant	Silent	SNP	G	G	T	rs776994645	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	57	0	ENST00000320816.6:c.2169C>A	p.Ser723=	p.S723=	ENST00000320816	NM_001343.3	723	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34149.1	2169	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGGAAAC	NONE	byFrequency	.	hmmpanther:PTHR11232:SF30,hmmpanther:PTHR11232	.	.	ENSP00000313391	.	13/15	.	.	.	.	.	.	.	.	rs776994645	13/15	PASS	ENST00000320816	Transcript	.	.	ENSG00000153071	2662	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DAB2_HUMAN	DAB2	HGNC	D6RIA5_HUMAN,D6RGZ1_HUMAN,D6REB1_HUMAN	.	UPI0000169E27	SNV	DAB2,synonymous_variant,p.%3D,ENST00000509337,;DAB2,synonymous_variant,p.%3D,ENST00000545653,;DAB2,synonymous_variant,p.%3D,ENST00000339788,;DAB2,synonymous_variant,p.%3D,ENST00000320816,;C9,intron_variant,,ENST00000483232,;C9,upstream_gene_variant,,ENST00000509186,;DAB2,upstream_gene_variant,,ENST00000502879,;	2637	57	67	SUCCESS
POLK	51426	.	GRCh37	5	74892708	74892708	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	31	0	ENST00000241436.4:c.2190T>C	p.Ser730=	p.S730=	ENST00000241436	NM_016218.2	730	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4030.1	2190	RADIA|MUTECT|VARSCANS	.	TCTAGTCTCCC	NONE	.	.	.	.	.	ENSP00000241436	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000241436	Transcript	.	.	ENSG00000122008	9183	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POLK_HUMAN	POLK	HGNC	D6RDX9_HUMAN	.	UPI0000073EF6	SNV	POLK,synonymous_variant,p.%3D,ENST00000352007,;POLK,synonymous_variant,p.%3D,ENST00000380481,;POLK,synonymous_variant,p.%3D,ENST00000508526,;POLK,synonymous_variant,p.%3D,ENST00000241436,;POLK,intron_variant,,ENST00000504026,;CTC-366B18.2,downstream_gene_variant,,ENST00000511329,;POLK,non_coding_transcript_exon_variant,,ENST00000506928,;POLK,3_prime_UTR_variant,,ENST00000514141,;POLK,3_prime_UTR_variant,,ENST00000509126,;POLK,3_prime_UTR_variant,,ENST00000510815,;POLK,3_prime_UTR_variant,,ENST00000505975,;POLK,3_prime_UTR_variant,,ENST00000503479,;POLK,intron_variant,,ENST00000511527,;POLK,upstream_gene_variant,,ENST00000505069,;POLK,upstream_gene_variant,,ENST00000502567,;	2362	31	41	SUCCESS
PDSS2	57107	.	GRCh37	6	107780344	107780344	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	32	0	ENST00000369037.4:c.146G>A	p.Trp49Ter	p.W49*	ENST00000369037	NM_020381.3	49	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS5059.1	146	RADIA|VARSCANS	.	GATTCCAGTGG	NONE	.	.	hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF49	.	.	ENSP00000358033	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000369037	Transcript	.	.	ENSG00000164494	23041	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLP1_HUMAN	PDSS2	HGNC	B4DWD3_HUMAN	.	UPI000013E3B4	SNV	PDSS2,stop_gained,p.Trp49Ter,ENST00000453874,;PDSS2,stop_gained,p.Trp49Ter,ENST00000369037,;PDSS2,stop_gained,p.Trp49Ter,ENST00000369031,;	424	32	40	SUCCESS
FIG4	9896	.	GRCh37	6	110036323	110036323	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368625871	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	45	1	ENST00000230124.3:c.109C>T	p.Arg37Cys	p.R37C	ENST00000230124	NM_014845.5	37	Cgt/Tgt	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS5078.1	109	RADIA|MUSE|VARSCANS	.	AATATCGTGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9	.	T:0.0001	ENSP00000230124	.	2/23	.	.	.	.	.	.	.	.	rs368625871	2/23	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,missense_variant,p.Arg16Cys,ENST00000454215,;FIG4,missense_variant,p.Arg37Cys,ENST00000230124,;FIG4,5_prime_UTR_variant,,ENST00000441478,;FIG4,upstream_gene_variant,,ENST00000368941,;	233	46	44	SUCCESS
UTRN	7402	.	GRCh37	6	144783916	144783916	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	72	0	ENST00000367545.3:c.2980C>T	p.Gln994Ter	p.Q994*	ENST00000367545	NM_007124.2	994	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34547.1	2980	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGCAAGGA	NONE	.	.	hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	.	.	ENSP00000356515	.	22/74	.	.	.	.	.	.	.	.	.	22/74	PASS	ENST00000367545	Transcript	.	.	ENSG00000152818	12635	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UTRO_HUMAN	UTRN	HGNC	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN	.	UPI00003673F1	SNV	UTRN,stop_gained,p.Gln994Ter,ENST00000367545,;	2980	72	79	SUCCESS
SYNJ2	8871	.	GRCh37	6	158487492	158487492	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	22	0	ENST00000355585.4:c.1542G>A	p.Leu514=	p.L514=	ENST00000355585	NM_001178088.1	514	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS5254.1	1542	RADIA|VARSCANS	.	ATCCTGAAAGC	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98,Gene3D:3.60.10.10,Superfamily_domains:SSF56219	.	.	ENSP00000347792	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000355585	Transcript	.	.	ENSG00000078269	11504	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNJ2_HUMAN	SYNJ2	HGNC	B4DLC4_HUMAN	.	UPI000006E2F8	SNV	SYNJ2,synonymous_variant,p.%3D,ENST00000367121,;SYNJ2,synonymous_variant,p.%3D,ENST00000355585,;SYNJ2,synonymous_variant,p.%3D,ENST00000449859,;SYNJ2,synonymous_variant,p.%3D,ENST00000367122,;SYNJ2,downstream_gene_variant,,ENST00000485863,;	1617	22	33	SUCCESS
PDE10A	10846	.	GRCh37	6	165749696	165749696	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781103938	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	20	0	ENST00000366882.1:c.2153G>T	p.Gly718Val	p.G718V	ENST00000366882		718	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS47513.1	2183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACCCAAGC	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000438284	.	21/22	.	.	.	.	.	.	.	.	rs781103938,COSM450883	21/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,missense_variant,p.Gly718Val,ENST00000354448,;PDE10A,missense_variant,p.Gly728Val,ENST00000539869,;PDE10A,missense_variant,p.Gly718Val,ENST00000366882,;	2239	20	31	SUCCESS
C2	717	.	GRCh37	6	31907064	31907064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	41	0	ENST00000299367.5:c.1186C>A	p.Leu396Met	p.L396M	ENST00000299367	NM_000063.4	396	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	.	727	MUTECT|VARSCANS	.	AGATCCTGAAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000410815	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.938)	.	deleterious(0.05)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Leu243Met,ENST00000456570,;CFB,missense_variant,p.Leu214Met,ENST00000477310,;C2,missense_variant,p.Leu150Met,ENST00000469372,;C2,missense_variant,p.Leu264Met,ENST00000442278,;CFB,missense_variant,p.Leu243Met,ENST00000556679,;C2,missense_variant,p.Leu396Met,ENST00000299367,;C2,missense_variant,p.Leu183Met,ENST00000497706,;C2,missense_variant,p.Leu182Met,ENST00000452323,;C2,missense_variant,p.Leu170Met,ENST00000383177,;C2,downstream_gene_variant,,ENST00000452202,;C2,downstream_gene_variant,,ENST00000418949,;C2,upstream_gene_variant,,ENST00000468407,;C2,missense_variant,p.Leu119Met,ENST00000485690,;C2,3_prime_UTR_variant,,ENST00000482060,;C2,non_coding_transcript_exon_variant,,ENST00000486124,;C2,downstream_gene_variant,,ENST00000484636,;C2,downstream_gene_variant,,ENST00000411571,;	782	41	42	SUCCESS
BTBD9	114781	.	GRCh37	6	38256182	38256182	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	53	0	ENST00000481247.1:c.1320C>T	p.Val440=	p.V440=	ENST00000481247	NM_052893.1	440	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47418.1	1320	RADIA|MUTECT|MUSE|VARSCANS	.	CGACTGACTCC	NONE	.	.	hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF101	.	.	ENSP00000418751	.	8/11	.	.	.	.	.	.	.	.	COSM3411048,COSM3411047	8/11	PASS	ENST00000481247	Transcript	.	.	ENSG00000183826	21228	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	BTBD9_HUMAN	BTBD9	HGNC	Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN	.	UPI00001C040E	SNV	BTBD9,synonymous_variant,p.%3D,ENST00000419706,;BTBD9,synonymous_variant,p.%3D,ENST00000314100,;BTBD9,synonymous_variant,p.%3D,ENST00000481247,;BTBD9,synonymous_variant,p.%3D,ENST00000408958,;BTBD9,synonymous_variant,p.%3D,ENST00000403056,;BTBD9,3_prime_UTR_variant,,ENST00000328403,;	1472	53	50	SUCCESS
EYS	346007	.	GRCh37	6	65300537	65300537	+	synonymous_variant	Silent	SNP	A	A	G	rs1308362084	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	122	0	ENST00000370616.2:c.5223T>C	p.Asp1741=	p.D1741=	ENST00000370616		1741	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS47445.1	5223	RADIA|MUTECT|MUSE|VARSCANS	.	GAACTATCACT	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,synonymous_variant,p.%3D,ENST00000370616,;EYS,synonymous_variant,p.%3D,ENST00000370621,;EYS,synonymous_variant,p.%3D,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000330816,;	5761	122	115	SUCCESS
ZAN	7455	.	GRCh37	7	100349904	100349904	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	30	298	0	ENST00000546292.1:c.2176A>G	p.Ile726Val	p.I726V	ENST00000546292	NM_173059.1	726	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	2176	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCATCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000445943	.	13/46	.	.	.	.	.	.	.	.	.	13/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Ile726Val,ENST00000546292,;ZAN,missense_variant,p.Ile726Val,ENST00000542585,;ZAN,missense_variant,p.Ile726Val,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Ile726Val,ENST00000421100,;ZAN,missense_variant,p.Ile726Val,ENST00000349350,;ZAN,missense_variant,p.Ile726Val,ENST00000427578,;ZAN,missense_variant,p.Ile726Val,ENST00000348028,;ZAN,missense_variant,p.Ile726Val,ENST00000449052,;ZAN,missense_variant,p.Ile726Val,ENST00000443370,;	2324	298	215	SUCCESS
METTL2B	55798	.	GRCh37	7	128119304	128119304	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776752874	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	32	188	0	ENST00000262432.8:c.295G>A	p.Glu99Lys	p.E99K	ENST00000262432	NM_018396.2	99	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5803.2	295	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGAATTC	NONE	byFrequency	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF4,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335	.	.	ENSP00000262432	.	3/9	.	.	.	.	.	.	.	.	rs776752874	3/9	PASS	ENST00000262432	Transcript	.	.	ENSG00000165055	18272	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	MET2B_HUMAN	METTL2B	HGNC	.	.	UPI000020FA36	SNV	METTL2B,missense_variant,p.Glu99Lys,ENST00000262432,;METTL2B,missense_variant,p.Glu34Lys,ENST00000480046,;METTL2B,upstream_gene_variant,,ENST00000419443,;RP11-212P7.3,non_coding_transcript_exon_variant,,ENST00000462662,;METTL2B,upstream_gene_variant,,ENST00000473488,;METTL2B,3_prime_UTR_variant,,ENST00000497665,;METTL2B,non_coding_transcript_exon_variant,,ENST00000482555,;	332	189	199	SUCCESS
TTC26	79989	.	GRCh37	7	138845777	138845777	+	intron_variant	Intron	SNP	C	C	T	rs747834543	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	15	0	ENST00000464848.1:c.792+9C>T		p.*264*	ENST00000464848	NM_001287513.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5852.1	.	RADIA|VARSCANS	.	AATAACGATTT	NONE	.	.	.	.	.	ENSP00000419279	.	.	.	.	.	.	.	.	.	.	rs747834543	.	PASS	ENST00000464848	Transcript	.	.	ENSG00000105948	21882	.	.	MODIFIER	8/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTC26_HUMAN	TTC26	HGNC	B7Z1H0_HUMAN	.	UPI000020FBAD	SNV	TTC26,synonymous_variant,p.%3D,ENST00000474035,;TTC26,intron_variant,,ENST00000430935,;TTC26,intron_variant,,ENST00000495038,;TTC26,intron_variant,,ENST00000478836,;TTC26,intron_variant,,ENST00000343187,;TTC26,intron_variant,,ENST00000464848,;TTC26,intron_variant,,ENST00000481482,;TTC26,intron_variant,,ENST00000476296,;	.	15	24	SUCCESS
ELFN1	392617	.	GRCh37	7	1784476	1784476	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1428412093	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	57	0	ENST00000424383.2:c.244C>T	p.Arg82Cys	p.R82C	ENST00000424383		82	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS59046.1	244	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCGCTTT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF34,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000456548	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000424383	Transcript	.	.	ENSG00000225968	33154	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ELFN1_HUMAN	ELFN1	HGNC	.	.	UPI0000251E11	SNV	ELFN1,missense_variant,p.Arg82Cys,ENST00000561626,;ELFN1,missense_variant,p.Arg82Cys,ENST00000424383,;ELFN1,missense_variant,p.Arg82Cys,ENST00000541472,;AC074389.9,upstream_gene_variant,,ENST00000415399,;AC074389.9,upstream_gene_variant,,ENST00000453348,;	731	57	49	SUCCESS
FSCN1	6624	.	GRCh37	7	5645021	5645021	+	synonymous_variant	Silent	SNP	C	C	T	rs568861608	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	47	0	ENST00000382361.3:c.1398C>T	p.Gly466=	p.G466=	ENST00000382361	NM_003088.3	466	ggC/ggT	0	.	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS5342.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGGGCG	NONE	by1000G	.	hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF8,Pfam_domain:PF06268,Gene3D:2.80.10.50,PIRSF_domain:PIRSF005682,Superfamily_domains:SSF50405	T:0	.	ENSP00000371798	T:0	5/5	.	.	.	.	.	.	.	.	rs568861608,COSM179240	5/5	PASS	ENST00000382361	Transcript	.	T:0.0002	ENSG00000075618	11148	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.001	.	0,1	FSCN1_HUMAN	FSCN1	HGNC	Q96IH1_HUMAN,H7BYX5_HUMAN,C9JPH9_HUMAN,C9JFC0_HUMAN,B3KTM9_HUMAN	.	UPI000003F063	SNV	FSCN1,synonymous_variant,p.%3D,ENST00000382361,;FSCN1,synonymous_variant,p.%3D,ENST00000340250,;FSCN1,downstream_gene_variant,,ENST00000447103,;FSCN1,downstream_gene_variant,,ENST00000444748,;FSCN1,downstream_gene_variant,,ENST00000405801,;FSCN1,non_coding_transcript_exon_variant,,ENST00000473330,;	1512	47	40	SUCCESS
TRAM1	23471	.	GRCh37	8	71499196	71499196	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	92	0	ENST00000262213.2:c.680A>G	p.Tyr227Cys	p.Y227C	ENST00000262213	NM_014294.5	227	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6207.1	680	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAATAATGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12371,hmmpanther:PTHR12371:SF3,Pfam_domain:PF03798,PIRSF_domain:PIRSF005449,SMART_domains:SM00724	.	.	ENSP00000262213	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000262213	Transcript	.	.	ENSG00000067167	20568	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.624)	.	deleterious(0.01)	.	TRAM1_HUMAN	TRAM1	HGNC	G3XAN4_HUMAN,Q6FHL3_HUMAN,B4E0K2_HUMAN	.	UPI0000001C66	SNV	TRAM1,missense_variant,p.Tyr196Cys,ENST00000536748,;TRAM1,missense_variant,p.Tyr227Cys,ENST00000262213,;TRAM1,missense_variant,p.Tyr141Cys,ENST00000521425,;TRAM1,non_coding_transcript_exon_variant,,ENST00000521049,;	850	92	103	SUCCESS
ALDOB	229	.	GRCh37	9	104192169	104192169	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	117	0	ENST00000374855.4:c.192C>A	p.Phe64Leu	p.F64L	ENST00000374855	NM_000035.3	64	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS6756.1	192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAGAAGAG	NONE	.	.	Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2	.	.	ENSP00000363988	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000374855	Transcript	.	.	ENSG00000136872	417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	tolerated(0.19)	.	ALDOB_HUMAN	ALDOB	HGNC	.	.	UPI000016A4A9	SNV	ALDOB,missense_variant,p.Phe64Leu,ENST00000374855,;ALDOB,upstream_gene_variant,,ENST00000468981,;	317	117	116	SUCCESS
NELFB	25920	.	GRCh37	9	140149989	140149989	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	30	0	ENST00000343053.4:c.28G>T	p.Val10Leu	p.V10L	ENST00000343053	NM_015456.3	10	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS7040.1	28	RADIA|VARSCANS	.	TGGGCGTGGCC	NONE	.	.	hmmpanther:PTHR13503	.	.	ENSP00000339495	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.19)	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,missense_variant,p.Val10Leu,ENST00000343053,;C9orf173,downstream_gene_variant,,ENST00000412566,;C9orf173,downstream_gene_variant,,ENST00000388931,;	365	30	32	SUCCESS
NELFB	25920	.	GRCh37	9	140166958	140166958	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	.	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	17	0	ENST00000343053.4:c.1488-1G>A		p.X496_splice	ENST00000343053	NM_015456.3	496		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7040.1	.	MUTECT|VARSCANS	.	TTCCAGGAAGG	NONE	.	.	.	.	.	ENSP00000339495	.	.	.	.	.	.	.	.	.	.	COSM1461373	.	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	HIGH	11/12	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,splice_acceptor_variant,,ENST00000343053,;	.	17	19	SUCCESS
AGTPBP1	23287	.	GRCh37	9	88200500	88200500	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	25	0	ENST00000357081.3:c.3043G>T	p.Asp1015Tyr	p.D1015Y	ENST00000357081	NM_001286715.1	1015	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6672.1	2923	RADIA|VARSCANS	.	ATAATCACAAT	NONE	.	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756:SF2,hmmpanther:PTHR12756	.	.	ENSP00000365251	.	23/26	.	.	.	.	.	.	.	.	.	23/26	oxog	ENST00000376083	Transcript	.	.	ENSG00000135049	17258	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CBPC1_HUMAN	AGTPBP1	HGNC	.	.	UPI000013CF66	SNV	AGTPBP1,missense_variant,p.Asp1015Tyr,ENST00000357081,;AGTPBP1,missense_variant,p.Asp975Tyr,ENST00000376083,;AGTPBP1,missense_variant,p.Asp1027Tyr,ENST00000376109,;AGTPBP1,3_prime_UTR_variant,,ENST00000337006,;AGTPBP1,intron_variant,,ENST00000432218,;	3000	25	31	SUCCESS
TENM1	10178	.	GRCh37	X	123695669	123695669	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	21	0	ENST00000371130.3:c.2288-2A>T		p.X763_splice	ENST00000371130	NM_014253.3	763		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55488.1	.	RADIA|MUTECT|VARSCANS	.	CCATCTGAAAA	NONE	.	.	.	.	.	ENSP00000403954	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	HIGH	13/31	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,splice_acceptor_variant,,ENST00000422452,;TENM1,splice_acceptor_variant,,ENST00000371130,;	.	21	42	SUCCESS
PRPS2	5634	.	GRCh37	X	12838909	12838909	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	38	0	ENST00000380668.5:c.851G>C	p.Cys284Ser	p.C284S	ENST00000380668	NM_001039091.2	284	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS43918.1	860	MUTECT|VARSCANS	.	ACACTGCACCA	NONE	.	.	HAMAP:MF_00583_B,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF30,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01251,Pfam_domain:PF14572,Superfamily_domains:SSF53271	.	.	ENSP00000381504	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000398491	Transcript	.	.	ENSG00000101911	9465	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.284)	.	tolerated(0.09)	.	PRPS2_HUMAN	PRPS2	HGNC	.	.	UPI000004A051	SNV	PRPS2,missense_variant,p.Cys284Ser,ENST00000380668,;PRPS2,missense_variant,p.Cys287Ser,ENST00000398491,;PRPS2,missense_variant,p.Cys139Ser,ENST00000461630,;	952	38	36	SUCCESS
ZNF75D	7626	.	GRCh37	X	134426310	134426310	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	75	0	ENST00000370766.3:c.501A>C	p.Gln167His	p.Q167H	ENST00000370766	NM_007131.3	167	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS14648.1	501	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGTTGGGG	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF43	.	.	ENSP00000359802	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000370766	Transcript	.	.	ENSG00000186376	13145	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.143)	.	tolerated(0.05)	.	ZN75D_HUMAN	ZNF75D	HGNC	.	.	UPI000022DD3A	SNV	ZNF75D,missense_variant,p.Gln167His,ENST00000370766,;ZNF75D,intron_variant,,ENST00000370764,;ZNF75D,intron_variant,,ENST00000494295,;ZNF75D,upstream_gene_variant,,ENST00000469456,;	3211	76	67	SUCCESS
PASD1	139135	.	GRCh37	X	150839639	150839639	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769677472	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	18	81	0	ENST00000370357.4:c.1201G>T	p.Ala401Ser	p.A401S	ENST00000370357	NM_173493.2	401	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS35431.1	1201	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGCATTG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000359382	.	12/16	.	.	.	.	.	.	.	.	rs769677472	12/16	PASS	ENST00000370357	Transcript	.	.	ENSG00000166049	20686	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.422)	.	tolerated(0.08)	.	PASD1_HUMAN	PASD1	HGNC	.	.	UPI0000074686	SNV	PASD1,missense_variant,p.Ala401Ser,ENST00000370357,;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,non_coding_transcript_exon_variant,,ENST00000413236,;	1446	81	96	SUCCESS
RPGR	6103	.	GRCh37	X	38144823	38144823	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	33	158	0	ENST00000339363.3:c.2520+1524T>G		p.*840*	ENST00000339363		1143		0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS35229.1	3429	RADIA|MUTECT|MUSE|VARSCANS	.	AATACATTATT	NONE	.	.	.	.	.	ENSP00000367766	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000378505	Transcript	.	.	ENSG00000156313	10295	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	RPGR_HUMAN	RPGR	HGNC	.	.	UPI00005D3C95	SNV	RPGR,missense_variant,p.Asn1143Lys,ENST00000378505,;RPGR,intron_variant,,ENST00000318842,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,intron_variant,,ENST00000339363,;RPGR,intron_variant,,ENST00000342811,;RPGR,intron_variant,,ENST00000309513,;RPGR,intron_variant,,ENST00000338898,;RPGR,intron_variant,,ENST00000494707,;RPGR,intron_variant,,ENST00000474584,;RPGR,intron_variant,,ENST00000482855,;	3606	159	157	SUCCESS
RLIM	51132	.	GRCh37	X	73812528	73812528	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	55	0	ENST00000332687.6:c.622del	p.Gln208ArgfsTer28	p.Q208Rfs*28	ENST00000332687	NM_016120.3	208	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS14427.1	622	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCTCTGACCTC	NONE	.	.	hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	.	.	ENSP00000328059	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332687	Transcript	.	.	ENSG00000131263	13429	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RNF12_HUMAN	RLIM	HGNC	.	.	UPI000006FD6A	deletion	RLIM,frameshift_variant,p.Gln208ArgfsTer28,ENST00000349225,;RLIM,frameshift_variant,p.Gln208ArgfsTer28,ENST00000332687,;	841	55	52	SUCCESS
CHUK	1147	.	GRCh37	10	101982676	101982676	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	38	0	ENST00000370397.7:c.262C>A	p.His88Asn	p.H88N	ENST00000370397	NM_001278.3	88	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS7488.1	262	RADIA|VARSCANS	.	ATCATGAATCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000359424	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	SNV	CHUK,missense_variant,p.His88Asn,ENST00000370397,;	349	38	27	SUCCESS
VAX1	11023	.	GRCh37	10	118896079	118896079	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	21	41	0	ENST00000369206.5:c.333G>C	p.Gln111His	p.Q111H	ENST00000369206	NM_001112704.1	111	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS44483.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGCTGCTC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24339:SF27,hmmpanther:PTHR24339,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000358207	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000369206	Transcript	1	.	ENSG00000148704	12660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	VAX1_HUMAN	VAX1	HGNC	.	.	UPI000013DB43	SNV	VAX1,missense_variant,p.Gln111His,ENST00000277905,;VAX1,missense_variant,p.Gln111His,ENST00000369206,;	333	41	33	SUCCESS
DYDC1	143241	.	GRCh37	10	82098869	82098869	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765074618	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	225	23	135	0	ENST00000372202.1:c.383A>G	p.Asp128Gly	p.D128G	ENST00000372202	NM_001269053.1	128	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7366.1	383	RADIA|MUTECT|MUSE|VARSCANS	.	GAATATCTTCA	NONE	.	.	hmmpanther:PTHR23356:SF4,hmmpanther:PTHR23356	.	.	ENSP00000361278	.	6/8	.	.	.	.	.	.	.	.	rs765074618	6/8	PASS	ENST00000372204	Transcript	.	.	ENSG00000170788	23460	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	deleterious(0.04)	.	DYDC1_HUMAN	DYDC1	HGNC	.	.	UPI0000070606	SNV	DYDC1,missense_variant,p.Asp128Gly,ENST00000421924,;DYDC1,missense_variant,p.Asp128Gly,ENST00000372204,;DYDC1,missense_variant,p.Asp128Gly,ENST00000372202,;DYDC1,missense_variant,p.Asp128Gly,ENST00000454362,;RP11-36D19.8,downstream_gene_variant,,ENST00000416657,;	548	135	249	SUCCESS
TNKS2	80351	.	GRCh37	10	93609319	93609319	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs556843721	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	43	111	0	ENST00000371627.4:c.2662G>A	p.Glu888Lys	p.E888K	ENST00000371627	NM_025235.3	888	Gag/Aag	0	.	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS7417.1	2662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGAGCAC	NONE	by1000G	.	PROSITE_profiles:PS50105,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Gene3D:1.10.150.50,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769	A:0	.	ENSP00000360689	A:0	20/27	.	.	.	.	.	.	.	.	rs556843721	20/27	PASS	ENST00000371627	Transcript	.	A:0.0002	ENSG00000107854	15677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	A:0.001	tolerated(0.11)	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,missense_variant,p.Glu888Lys,ENST00000371627,;	3041	111	133	SUCCESS
C11orf57	0	.	GRCh37	11	111953659	111953659	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	37	0	ENST00000393047.3:c.845C>T	p.Thr282Ile	p.T282I	ENST00000393047		282	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS8356.2	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTACAGATG	NONE	.	.	.	.	.	ENSP00000376767	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000393047	Transcript	.	.	ENSG00000150776	25569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0.01)	.	CK057_HUMAN	C11orf57	HGNC	E9PQL5_HUMAN,E9PKA8_HUMAN	.	UPI00001FA363	SNV	C11orf57,missense_variant,p.Thr281Ile,ENST00000420986,;C11orf57,missense_variant,p.Thr282Ile,ENST00000393047,;C11orf57,missense_variant,p.Thr281Ile,ENST00000280352,;C11orf57,missense_variant,p.Thr253Ile,ENST00000532163,;SDHD,upstream_gene_variant,,ENST00000528182,;C11orf57,downstream_gene_variant,,ENST00000531378,;C11orf57,downstream_gene_variant,,ENST00000526879,;C11orf57,downstream_gene_variant,,ENST00000530104,;TIMM8B,downstream_gene_variant,,ENST00000504148,;SDHD,upstream_gene_variant,,ENST00000526592,;C11orf57,downstream_gene_variant,,ENST00000525785,;SDHD,upstream_gene_variant,,ENST00000375549,;SDHD,upstream_gene_variant,,ENST00000525291,;SDHD,upstream_gene_variant,,ENST00000528021,;TIMM8B,downstream_gene_variant,,ENST00000541231,;SDHD,upstream_gene_variant,,ENST00000528048,;TIMM8B,downstream_gene_variant,,ENST00000507614,;C11orf57,3_prime_UTR_variant,,ENST00000524989,;SDHD,upstream_gene_variant,,ENST00000525987,;SDHD,upstream_gene_variant,,ENST00000532699,;TIMM8B,downstream_gene_variant,,ENST00000509359,;SDHD,upstream_gene_variant,,ENST00000531744,;SDHD,upstream_gene_variant,,ENST00000530923,;	1454	37	48	SUCCESS
NCAM1	4684	.	GRCh37	11	113130930	113130930	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	5	59	0	ENST00000316851.7:c.1986G>T	p.Lys662Asn	p.K662N	ENST00000316851	NM_181351.4	662	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	.	2163	MUTECT|VARSCANS	.	CTGAAGTCCCT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,PROSITE_profiles:PS50853	.	.	ENSP00000474028	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.23)	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,missense_variant,p.Lys742Asn,ENST00000534015,;NCAM1,missense_variant,p.Lys721Asn,ENST00000524665,;NCAM1,missense_variant,p.Lys544Asn,ENST00000533760,;NCAM1,missense_variant,p.Lys662Asn,ENST00000316851,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000526427,;NCAM1,non_coding_transcript_exon_variant,,ENST00000533073,;NCAM1,non_coding_transcript_exon_variant,,ENST00000526322,;NCAM1,non_coding_transcript_exon_variant,,ENST00000524916,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,non_coding_transcript_exon_variant,,ENST00000528590,;NCAM1,downstream_gene_variant,,ENST00000530543,;NCAM1,3_prime_UTR_variant,,ENST00000531817,;NCAM1,non_coding_transcript_exon_variant,,ENST00000530090,;NCAM1,non_coding_transcript_exon_variant,,ENST00000534516,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525691,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525355,;NCAM1,upstream_gene_variant,,ENST00000531927,;	2163	59	72	SUCCESS
SCN3B	55800	.	GRCh37	11	123513234	123513234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	49	0	ENST00000299333.3:c.365T>A	p.Val122Glu	p.V122E	ENST00000299333	NM_001040151.1	122	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8442.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACACATTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF1,PROSITE_profiles:PS50835	.	.	ENSP00000376523	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000392770	Transcript	.	.	ENSG00000166257	20665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	SCN3B_HUMAN	SCN3B	HGNC	E9PQS8_HUMAN,E9PJP6_HUMAN	.	UPI00000341C8	SNV	SCN3B,missense_variant,p.Val122Glu,ENST00000299333,;SCN3B,missense_variant,p.Val122Glu,ENST00000530277,;SCN3B,missense_variant,p.Val122Glu,ENST00000392770,;SCN3B,missense_variant,p.Val122Glu,ENST00000527836,;SCN3B,downstream_gene_variant,,ENST00000528267,;SCN3B,upstream_gene_variant,,ENST00000527125,;	1168	49	61	SUCCESS
OR8D1	283159	.	GRCh37	11	124180637	124180637	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	26	0	ENST00000357821.2:c.26C>A	p.Ala9Glu	p.A9E	ENST00000357821	NM_001002917.1	9	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS31706.1	26	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGCCATA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF66	.	.	ENSP00000350474	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357821	Transcript	.	.	ENSG00000196341	8481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious(0.01)	.	OR8D1_HUMAN	OR8D1	HGNC	.	.	UPI0000041D9D	SNV	OR8D1,missense_variant,p.Ala9Glu,ENST00000357821,;	97	26	29	SUCCESS
CD59	966	.	GRCh37	11	33738932	33738932	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	34	0	ENST00000351554.3:c.153T>C	p.Cys51=	p.C51=	ENST00000351554		51	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS7886.1	153	RADIA|VARSCANS	.	ATGAGACACGC	NONE	.	.	hmmpanther:PTHR10036,hmmpanther:PTHR10036:SF6,PROSITE_patterns:PS00983,Pfam_domain:PF00021,Gene3D:2.10.60.10,SMART_domains:SM00134,Superfamily_domains:SSF57302	.	.	ENSP00000379191	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395850	Transcript	.	.	ENSG00000085063	1689	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD59_HUMAN	CD59	HGNC	Q6FHM9_HUMAN	.	UPI0000127386	SNV	CD59,synonymous_variant,p.%3D,ENST00000528700,;CD59,synonymous_variant,p.%3D,ENST00000445143,;CD59,synonymous_variant,p.%3D,ENST00000351554,;CD59,synonymous_variant,p.%3D,ENST00000527577,;CD59,synonymous_variant,p.%3D,ENST00000437761,;CD59,synonymous_variant,p.%3D,ENST00000395850,;CD59,synonymous_variant,p.%3D,ENST00000415002,;CD59,synonymous_variant,p.%3D,ENST00000426650,;CD59,synonymous_variant,p.%3D,ENST00000533403,;CD59,synonymous_variant,p.%3D,ENST00000534312,;CD59,synonymous_variant,p.%3D,ENST00000525763,;CD59,synonymous_variant,p.%3D,ENST00000527926,;CD59,non_coding_transcript_exon_variant,,ENST00000528987,;	229	34	34	SUCCESS
AHNAK	79026	.	GRCh37	11	62293785	62293785	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	10	169	0	ENST00000378024.4:c.8104A>G	p.Ile2702Val	p.I2702V	ENST00000378024	NM_001620.2	2702	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31584.1	8104	MUTECT|MUSE	.	TTTGATATTCA	CODON|p.I2702T|c.8105T>C|3	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	COSM544111	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.02)	.	.	1	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Ile2702Val,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	8379	169	188	SUCCESS
SLC22A6	9356	.	GRCh37	11	62747031	62747031	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	40	0	ENST00000377871.3:c.1290G>T	p.Gly430=	p.G430=	ENST00000377871	NM_153278.2	430	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31591.1	1290	RADIA|VARSCANS	.	CCCTTCCCCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF205,hmmpanther:PTHR24064,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000367102	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000377871	Transcript	.	.	ENSG00000197901	10970	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22A6_HUMAN	SLC22A6	HGNC	.	.	UPI00000747EC	SNV	SLC22A6,synonymous_variant,p.%3D,ENST00000377871,;SLC22A6,synonymous_variant,p.%3D,ENST00000421062,;SLC22A6,synonymous_variant,p.%3D,ENST00000458333,;SLC22A6,synonymous_variant,p.%3D,ENST00000360421,;SLC22A6,downstream_gene_variant,,ENST00000537349,;SLC22A6,3_prime_UTR_variant,,ENST00000540654,;	1557	40	35	SUCCESS
PLCB3	5331	.	GRCh37	11	64031579	64031579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	34	0	ENST00000279230.6:c.2647A>G	p.Ser883Gly	p.S883G	ENST00000279230		883	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS8064.1	2647	RADIA|VARSCANS	.	GGGAGAGTGAG	NONE	.	.	PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336	.	.	ENSP00000443631	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000540288	Transcript	.	.	ENSG00000149782	9056	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.18)	.	PLCB3_HUMAN	PLCB3	HGNC	.	.	UPI0000131AFF	SNV	PLCB3,missense_variant,p.Ser816Gly,ENST00000325234,;PLCB3,missense_variant,p.Ser883Gly,ENST00000540288,;PLCB3,missense_variant,p.Ser883Gly,ENST00000279230,;PLCB3,non_coding_transcript_exon_variant,,ENST00000536243,;	2750	34	35	SUCCESS
CD248	57124	.	GRCh37	11	66083385	66083385	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs531726992	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	32	0	ENST00000311330.3:c.1114G>T	p.Gly372Trp	p.G372W	ENST00000311330	NM_020404.2	372	Ggg/Tgg	0	.	T:0.0008	.	T:0	.	A	G/W	protein_coding	YES	CCDS8134.1	1114	RADIA|VARSCANS	.	CTCCCCGTCAT	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24838:SF269,hmmpanther:PTHR24838	T:0	.	ENSP00000308117	T:0	1/1	.	.	.	.	.	.	.	.	rs531726992	1/1	oxog	ENST00000311330	Transcript	.	T:0.0002	ENSG00000174807	18219	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.908)	T:0	deleterious_low_confidence(0.01)	.	CD248_HUMAN	CD248	HGNC	.	.	UPI0000049803	SNV	CD248,missense_variant,p.Gly372Trp,ENST00000311330,;RP11-867G23.13,intron_variant,,ENST00000534065,;	1131	32	24	SUCCESS
PPP6R3	55291	.	GRCh37	11	68338555	68338555	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	55	0	ENST00000393800.2:c.1326A>C	p.Glu442Asp	p.E442D	ENST00000393800	NM_001164161.1	442	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS53671.1	1326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAAATGAA	NONE	.	.	hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634,Pfam_domain:PF04499	.	.	ENSP00000377390	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000393801	Transcript	.	.	ENSG00000110075	1173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.03)	.	PP6R3_HUMAN	PPP6R3	HGNC	E9PNN8_HUMAN,E9PKG4_HUMAN,E9PK08_HUMAN,E9PJD8_HUMAN	.	UPI0000688150	SNV	PPP6R3,missense_variant,p.Glu442Asp,ENST00000527403,;PPP6R3,missense_variant,p.Glu442Asp,ENST00000265637,;PPP6R3,missense_variant,p.Glu442Asp,ENST00000393799,;PPP6R3,missense_variant,p.Glu391Asp,ENST00000529710,;PPP6R3,missense_variant,p.Glu210Asp,ENST00000534534,;PPP6R3,missense_variant,p.Glu442Asp,ENST00000524904,;PPP6R3,missense_variant,p.Glu442Asp,ENST00000393800,;PPP6R3,missense_variant,p.Glu391Asp,ENST00000265636,;PPP6R3,missense_variant,p.Glu442Asp,ENST00000524845,;PPP6R3,missense_variant,p.Glu442Asp,ENST00000393801,;PPP6R3,missense_variant,p.Glu178Asp,ENST00000534190,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526574,;PPP6R3,upstream_gene_variant,,ENST00000525421,;	1541	55	75	SUCCESS
RPS3	6188	.	GRCh37	11	75110602	75110602	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772964979	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	101	0	ENST00000524851.1:c.11A>G	p.Gln4Arg	p.Q4R	ENST00000524851		4	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS58161.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCAAATAT	NONE	byFrequency	.	hmmpanther:PTHR11760,hmmpanther:PTHR11760:SF17	.	.	ENSP00000278572	.	1/7	.	.	.	.	.	.	.	.	rs772964979	1/7	PASS	ENST00000278572	Transcript	.	.	ENSG00000149273	10420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.43)	.	tolerated(0.11)	.	RS3_HUMAN	RPS3	HGNC	Q9NQS8_HUMAN,E9PSF4_HUMAN,E9PJN9_HUMAN	.	UPI0001EE4B77	SNV	RPS3,missense_variant,p.Gln4Arg,ENST00000530164,;RPS3,missense_variant,p.Gln4Arg,ENST00000278572,;RPS3,missense_variant,p.Gln4Arg,ENST00000531188,;RPS3,missense_variant,p.Gln4Arg,ENST00000526608,;RPS3,missense_variant,p.Gln4Arg,ENST00000527273,;RPS3,missense_variant,p.Gln4Arg,ENST00000534440,;RPS3,missense_variant,p.Gln4Arg,ENST00000524851,;RPS3,missense_variant,p.Gln4Arg,ENST00000527446,;RPS3,5_prime_UTR_variant,,ENST00000422465,;RPS3,upstream_gene_variant,,ENST00000525933,;RPS3,upstream_gene_variant,,ENST00000528847,;SNORD15B,upstream_gene_variant,,ENST00000384714,;SNORD15A,upstream_gene_variant,,ENST00000384214,;RPS3,upstream_gene_variant,,ENST00000534555,;RPS3,upstream_gene_variant,,ENST00000529285,;RPS3,start_lost,p.Gln1?,ENST00000526248,;RPS3,missense_variant,p.Gln4Arg,ENST00000532872,;RPS3,missense_variant,p.Gln4Arg,ENST00000530721,;RPS3,missense_variant,p.Gln4Arg,ENST00000528439,;RPS3,non_coding_transcript_exon_variant,,ENST00000529173,;RPS3,upstream_gene_variant,,ENST00000525690,;RPS3,upstream_gene_variant,,ENST00000530170,;	29	101	97	SUCCESS
FAT3	120114	.	GRCh37	11	92531317	92531317	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	51	94	0	ENST00000298047.6:c.5138T>A	p.Ile1713Asn	p.I1713N	ENST00000298047		1713	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	.	5138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGATCTTTA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ile1713Asn,ENST00000298047,;FAT3,missense_variant,p.Ile1713Asn,ENST00000409404,;FAT3,missense_variant,p.Ile1563Asn,ENST00000525166,;	5155	94	136	SUCCESS
ANO4	121601	.	GRCh37	12	101381373	101381373	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs576854824	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	40	0	ENST00000392977.3:c.659T>A	p.Leu220Gln	p.L220Q	ENST00000392977	NM_001286615.1	220	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31884.1	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGGACA	NONE	byCluster	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	7/27	.	.	.	.	.	.	.	.	rs576854824	7/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.382)	.	deleterious(0.01)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Leu220Gln,ENST00000392977,;ANO4,missense_variant,p.Leu185Gln,ENST00000392979,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,3_prime_UTR_variant,,ENST00000538618,;ANO4,non_coding_transcript_exon_variant,,ENST00000549234,;ANO4,3_prime_UTR_variant,,ENST00000549155,;	915	40	32	SUCCESS
MLXIP	22877	.	GRCh37	12	122622025	122622025	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	37	0	ENST00000319080.7:c.2042G>T	p.Cys681Phe	p.C681F	ENST00000319080	NM_014938.4_dupl16	681	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	.	2042	RADIA|VARSCANS	.	GGACTGCCCAA	NONE	.	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	.	.	ENSP00000312834	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.248)	.	tolerated(0.69)	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,missense_variant,p.Cys152Phe,ENST00000366272,;MLXIP,missense_variant,p.Cys288Phe,ENST00000538698,;MLXIP,missense_variant,p.Cys681Phe,ENST00000319080,;MLXIP,missense_variant,p.Cys17Phe,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000377037,;MLXIP,downstream_gene_variant,,ENST00000535996,;MLXIP,non_coding_transcript_exon_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000539861,;MLXIP,downstream_gene_variant,,ENST00000538061,;	2174	37	36	SUCCESS
NCOR2	9612	.	GRCh37	12	124821716	124821753	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TGGAGGTGGACCTGGGGGAGGAGAGAAGGCGGTCAGGC	TGGAGGTGGACCTGGGGGAGGAGAGAAGGCGGTCAGGC	GGG	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	TGGAGGTGGACCTGGGGGAGGAGAGAAGGCGGTCAGGC	TGGAGGTGGACCTGGGGGAGGAGAGAAGGCGGTCAGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	233	0	ENST00000405201.1:c.5688-27_5698delinsCCC		p.X1896_splice	ENST00000405201		1896		0	.	.	.	.	.	GGG	.	protein_coding	YES	CCDS41858.2	?-5698	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGAGGTGGAGGTGGACCTGGGGGAGGAGAGAAGGCGGTCAGGCAGTCA	NONE	.	.	.	.	.	ENSP00000384018	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	HIGH	37/46	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	substitution	NCOR2,splice_acceptor_variant,,ENST00000356219,;NCOR2,splice_acceptor_variant,,ENST00000440187,;NCOR2,splice_acceptor_variant,,ENST00000404121,;NCOR2,splice_acceptor_variant,,ENST00000429285,;NCOR2,splice_acceptor_variant,,ENST00000405201,;NCOR2,splice_acceptor_variant,,ENST00000404621,;NCOR2,splice_acceptor_variant,,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000453428,;NCOR2,upstream_gene_variant,,ENST00000418829,;NCOR2,upstream_gene_variant,,ENST00000443451,;NCOR2,upstream_gene_variant,,ENST00000440337,;NCOR2,upstream_gene_variant,,ENST00000474079,;NCOR2,upstream_gene_variant,,ENST00000461081,;	?-5699	233	55	SUCCESS
BAZ2A	11176	.	GRCh37	12	56993854	56993854	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780106566	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	85	0	ENST00000551812.1:c.4925G>T	p.Arg1642Leu	p.R1642L	ENST00000551812	NM_013449.3	1642	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS44924.1	4925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACGAATG	NONE	byFrequency	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141	.	.	ENSP00000446880	.	25/29	.	.	.	.	.	.	.	.	rs780106566,COSM279122,COSM279123	25/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.902)	.	deleterious(0.04)	0,1,1	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,missense_variant,p.Arg1612Leu,ENST00000379441,;BAZ2A,missense_variant,p.Arg574Leu,ENST00000549787,;BAZ2A,missense_variant,p.Arg1610Leu,ENST00000179765,;BAZ2A,missense_variant,p.Arg1642Leu,ENST00000551812,;BAZ2A,missense_variant,p.Arg1640Leu,ENST00000549884,;BAZ2A,downstream_gene_variant,,ENST00000547453,;BAZ2A,downstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000551759,;	5119	85	63	SUCCESS
CD163L1	283316	.	GRCh37	12	7522105	7522105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	34	0	ENST00000313599.3:c.3887T>C	p.Leu1296Pro	p.L1296P	ENST00000313599		1296	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8577.1	3887	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CCCTCAGGGCA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000315945	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000313599	Transcript	.	.	ENSG00000177675	30375	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.049)	.	tolerated(0.25)	.	C163B_HUMAN	CD163L1	HGNC	F5H7R7_HUMAN	.	UPI000013F5AD	SNV	CD163L1,missense_variant,p.Leu1306Pro,ENST00000416109,;CD163L1,missense_variant,p.Leu1296Pro,ENST00000313599,;CD163L1,missense_variant,p.Leu1296Pro,ENST00000396630,;CD163L1,upstream_gene_variant,,ENST00000539726,;CD163L1,upstream_gene_variant,,ENST00000545597,;CD163L1,upstream_gene_variant,,ENST00000543841,;CD163L1,upstream_gene_variant,,ENST00000546182,;	3945	34	24	SUCCESS
PTPRQ	374462	.	GRCh37	12	81004359	81004359	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	54	0	ENST00000266688.5:c.4861G>C	p.Glu1621Gln	p.E1621Q	ENST00000266688		1621	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	.	4861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTAGAAGGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10	.	.	ENSP00000266688	.	33/50	.	.	.	.	.	.	.	.	.	33/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	tolerated(0.06)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Glu1621Gln,ENST00000266688,;	4861	54	77	SUCCESS
UBE2N	7334	.	GRCh37	12	93804590	93804590	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs555116824	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	19	128	0	ENST00000318066.2:c.338G>C	p.Ser113Thr	p.S113T	ENST00000318066	NM_003348.3	113	aGt/aCt	0	.	T:0	.	T:0	.	G	S/T	protein_coding	YES	CCDS31875.1	338	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCACTTAAC	NONE	by1000G	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	T:0	.	ENSP00000316176	T:0.001	3/4	.	.	.	.	.	.	.	.	rs555116824	3/4	PASS	ENST00000318066	Transcript	.	T:0.0002	ENSG00000177889	12492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.397)	T:0	tolerated(0.31)	.	UBE2N_HUMAN	UBE2N	HGNC	F8VQQ8_HUMAN	.	UPI0000003EA3	SNV	UBE2N,missense_variant,p.Ser50Thr,ENST00000549833,;UBE2N,missense_variant,p.Ser113Thr,ENST00000318066,;UBE2N,3_prime_UTR_variant,,ENST00000550657,;UBE2N,intron_variant,,ENST00000552442,;UBE2N,upstream_gene_variant,,ENST00000548946,;UBE2N,3_prime_UTR_variant,,ENST00000549490,;	716	128	164	SUCCESS
CENPJ	55835	.	GRCh37	13	25466801	25466801	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	39	110	0	ENST00000381884.4:c.3196G>T	p.Glu1066Ter	p.E1066*	ENST00000381884	NM_018451.4	1066	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS9310.1	3196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCACCT	NONE	.	.	hmmpanther:PTHR10331:SF19,hmmpanther:PTHR10331	.	.	ENSP00000371308	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000381884	Transcript	.	.	ENSG00000151849	17272	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPJ_HUMAN	CENPJ	HGNC	B3KVU9_HUMAN	.	UPI000013DC8A	SNV	CENPJ,stop_gained,p.Glu148Ter,ENST00000418179,;CENPJ,stop_gained,p.Glu1066Ter,ENST00000381884,;CENPJ,stop_gained,p.Glu1066Ter,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000471870,;	3382	110	157	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37678951	37678951	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201851808	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	83	197	0	ENST00000379800.3:c.443G>A	p.Arg148His	p.R148H	ENST00000379800	NM_145203.5	148	cGt/cAt	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS9363.1	443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACGCCCA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	T:0.001	.	ENSP00000369126	T:0	1/1	.	.	.	.	.	.	.	.	rs201851808,COSM3704620	1/1	PASS	ENST00000379800	Transcript	.	T:0.0002	ENSG00000180138	20289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.02)	T:0	deleterious_low_confidence(0.02)	0,1	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,missense_variant,p.Arg148His,ENST00000379800,;	853	197	245	SUCCESS
RB1	5925	.	GRCh37	13	48953728	48953728	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs1555286503	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	99	0	ENST00000267163.4:c.1333-2A>G		p.X445_splice	ENST00000267163	NM_000321.2	445		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31973.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTAGCGAT	BUFFER|p.R445*|c.1333C>T|14,BUFFER|p.R445*|c.1333C>T|12	.	.	.	.	.	ENSP00000267163	.	.	.	.	.	.	.	.	.	.	CS030552,COSM696477,COSM1147220	.	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	13/26	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	0,1,1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,splice_acceptor_variant,,ENST00000267163,;	.	99	122	SUCCESS
GUCY1B2	2974	.	GRCh37	13	51591120	51591120	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	92	1	ENST00000493639.2:n.1514A>G		p.*505*	ENST00000493639				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACTATTTGTA	NONE	.	.	.	.	.	.	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000493639	Transcript	.	.	ENSG00000123201	4686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GUCY1B2	HGNC	.	.	.	SNV	GUCY1B2,non_coding_transcript_exon_variant,,ENST00000493639,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000389600,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000532104,;GUCY1B2,intron_variant,,ENST00000533288,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000531898,;GUCY1B2,non_coding_transcript_exon_variant,,ENST00000537462,;	1514	93	80	SUCCESS
C14orf79	0	.	GRCh37	14	105452896	105452896	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	39	0	ENST00000547315.1:c.128C>A	p.Pro43His	p.P43H	ENST00000547315	NM_174891.3	43	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS42000.1	128	RADIA|VARSCANS	.	CTGCCCCGACC	NONE	.	.	hmmpanther:PTHR16156,hmmpanther:PTHR16156:SF7	.	.	ENSP00000450114	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000547315	Transcript	.	.	ENSG00000140104	20126	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.386)	.	tolerated(0.34)	.	CN079_HUMAN	C14orf79	HGNC	J3KRA4_HUMAN,F8VUA8_HUMAN	.	UPI0000DACAC2	SNV	C14orf79,missense_variant,p.Pro43His,ENST00000547315,;C14orf79,intron_variant,,ENST00000551606,;C14orf79,upstream_gene_variant,,ENST00000549240,;C14orf79,upstream_gene_variant,,ENST00000550614,;C14orf79,upstream_gene_variant,,ENST00000549584,;C14orf79,upstream_gene_variant,,ENST00000548178,;C14orf79,missense_variant,p.Pro43His,ENST00000548641,;C14orf79,missense_variant,p.Pro43His,ENST00000389964,;C14orf79,intron_variant,,ENST00000551046,;	767	39	38	SUCCESS
TMEM55B	0	.	GRCh37	14	20926842	20926842	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	39	0	ENST00000398020.4:c.731C>T	p.Ala244Val	p.A244V	ENST00000398020	NM_144568.2	244	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41911.1	731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGCATGC	NONE	.	.	hmmpanther:PTHR21014:SF3,hmmpanther:PTHR21014,Pfam_domain:PF09788	.	.	ENSP00000381102	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000398020	Transcript	.	.	ENSG00000165782	19299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	deleterious(0.04)	.	TM55B_HUMAN	TMEM55B	HGNC	G3V5T5_HUMAN,G3V3P3_HUMAN	.	UPI00001B3DC8	SNV	TMEM55B,missense_variant,p.Ala70Val,ENST00000554028,;TMEM55B,missense_variant,p.Ala244Val,ENST00000398020,;TMEM55B,missense_variant,p.Ala77Val,ENST00000553460,;TMEM55B,missense_variant,p.Ala237Val,ENST00000250489,;APEX1,downstream_gene_variant,,ENST00000557054,;APEX1,downstream_gene_variant,,ENST00000438886,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000398030,;APEX1,downstream_gene_variant,,ENST00000553368,;APEX1,downstream_gene_variant,,ENST00000555414,;OSGEP,upstream_gene_variant,,ENST00000206542,;APEX1,downstream_gene_variant,,ENST00000553681,;APEX1,downstream_gene_variant,,ENST00000555839,;APEX1,downstream_gene_variant,,ENST00000557181,;APEX1,downstream_gene_variant,,ENST00000216714,;OSGEP,upstream_gene_variant,,ENST00000488532,;TMEM55B,downstream_gene_variant,,ENST00000556093,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;OSGEP,upstream_gene_variant,,ENST00000556252,;APEX1,downstream_gene_variant,,ENST00000556296,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000557365,;APEX1,downstream_gene_variant,,ENST00000554813,;TMEM55B,non_coding_transcript_exon_variant,,ENST00000557041,;TMEM55B,non_coding_transcript_exon_variant,,ENST00000553602,;APEX1,downstream_gene_variant,,ENST00000553555,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;APEX1,downstream_gene_variant,,ENST00000554325,;APEX1,downstream_gene_variant,,ENST00000557159,;	871	39	34	SUCCESS
LRFN5	145581	.	GRCh37	14	42356583	42356583	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	56	0	ENST00000298119.4:c.755G>A	p.Arg252Lys	p.R252K	ENST00000298119	NM_152447.3	252	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS9678.1	755	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGGCGTC	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious(0.01)	.	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Arg252Lys,ENST00000298119,;LRFN5,missense_variant,p.Arg252Lys,ENST00000554120,;LRFN5,missense_variant,p.Arg252Lys,ENST00000554171,;	1944	56	70	SUCCESS
PCSK6	5046	.	GRCh37	15	101929687	101929687	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs867715844	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	37	0	ENST00000348070.1:c.1289C>A	p.Ala430Asp	p.A430D	ENST00000348070	NM_138320.1	430	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	.	1289	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGCGATG	NONE	.	.	hmmpanther:PTHR10795:SF345,hmmpanther:PTHR10795,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743,Prints_domain:PR00723	.	.	ENSP00000305056	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000348070	Transcript	.	.	ENSG00000140479	8569	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PCSK6_HUMAN	PCSK6	HGNC	A2RQD9_HUMAN	.	UPI00001AE92B	SNV	PCSK6,missense_variant,p.Ala430Asp,ENST00000358417,;PCSK6,missense_variant,p.Ala430Asp,ENST00000398181,;PCSK6,missense_variant,p.Ala430Asp,ENST00000344273,;PCSK6,missense_variant,p.Ala305Asp,ENST00000559417,;PCSK6,missense_variant,p.Ala265Asp,ENST00000331826,;PCSK6,missense_variant,p.Ala333Asp,ENST00000398185,;PCSK6,missense_variant,p.Ala430Asp,ENST00000348070,;PCSK6,non_coding_transcript_exon_variant,,ENST00000560921,;PCSK6,non_coding_transcript_exon_variant,,ENST00000561109,;PCSK6,non_coding_transcript_exon_variant,,ENST00000558716,;PCSK6,non_coding_transcript_exon_variant,,ENST00000560271,;PCSK6,non_coding_transcript_exon_variant,,ENST00000561177,;PCSK6,non_coding_transcript_exon_variant,,ENST00000559678,;PCSK6,non_coding_transcript_exon_variant,,ENST00000561444,;PCSK6,intron_variant,,ENST00000557794,;	1289	37	46	SUCCESS
RAD51	5888	.	GRCh37	15	40993273	40993273	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	53	0	ENST00000267868.3:c.99A>G	p.Ile33Met	p.I33M	ENST00000267868	NM_002875.4	33	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS53931.1	99	RADIA|MUTECT|MUSE|VARSCANS	.	GGCATAAATGC	NONE	.	.	Superfamily_domains:SSF47794,PIRSF_domain:PIRSF005856,Pfam_domain:PF14520,TIGRFAM_domain:TIGR02239,Gene3D:1.10.150.20,hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF30	.	.	ENSP00000372088	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000382643	Transcript	1	.	ENSG00000051180	9817	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.881)	.	deleterious(0)	.	RAD51_HUMAN	RAD51	HGNC	Q9NZG9_HUMAN	.	UPI000035E763	SNV	RAD51,missense_variant,p.Ile33Met,ENST00000382643,;RAD51,missense_variant,p.Ile33Met,ENST00000423169,;RAD51,missense_variant,p.Ile33Met,ENST00000526763,;RAD51,missense_variant,p.Ile33Met,ENST00000532743,;RAD51,missense_variant,p.Ile33Met,ENST00000527860,;RAD51,missense_variant,p.Ile33Met,ENST00000267868,;RAD51,missense_variant,p.Ile33Met,ENST00000557850,;RAD51,missense_variant,p.Ile33Met,ENST00000525066,;RAD51,missense_variant,p.Ile33Met,ENST00000531277,;RAD51,upstream_gene_variant,,ENST00000533741,;	249	53	46	SUCCESS
UNKL	64718	.	GRCh37	16	1463923	1463923	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	67	0	ENST00000389221.4:c.211G>A	p.Gly71Ser	p.G71S	ENST00000389221	NM_001193388.3	71	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	.	211	RADIA|MUTECT	.	GGTGCCGTCGC	NONE	.	.	hmmpanther:PTHR14493:SF37,hmmpanther:PTHR14493	.	.	ENSP00000373873	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000389221	Transcript	.	.	ENSG00000059145	14184	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	UNKL_HUMAN	UNKL	HGNC	D6RA68_HUMAN	.	UPI0001AE676E	SNV	UNKL,missense_variant,p.Gly71Ser,ENST00000397462,;UNKL,missense_variant,p.Gly71Ser,ENST00000508903,;UNKL,missense_variant,p.Gly71Ser,ENST00000301712,;UNKL,missense_variant,p.Gly71Ser,ENST00000389221,;LA16c-312E8.2,downstream_gene_variant,,ENST00000568554,;UNKL,non_coding_transcript_exon_variant,,ENST00000503648,;UNKL,synonymous_variant,p.%3D,ENST00000382757,;UNKL,non_coding_transcript_exon_variant,,ENST00000566707,;	211	67	36	SUCCESS
CCP110	9738	.	GRCh37	16	19547850	19547850	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	53	0	ENST00000381396.5:c.859T>C	p.Ser287Pro	p.S287P	ENST00000381396	NM_001199022.1	287	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS55992.1	859	RADIA|VARSCANS	.	GTGTCTCAGTT	NONE	.	.	hmmpanther:PTHR13594	.	.	ENSP00000370803	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000381396	Transcript	.	.	ENSG00000103540	24342	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.22)	.	CP110_HUMAN	CCP110	HGNC	.	.	UPI0000D619A9	SNV	CCP110,missense_variant,p.Ser287Pro,ENST00000396212,;CCP110,missense_variant,p.Ser287Pro,ENST00000381396,;CCP110,missense_variant,p.Ser287Pro,ENST00000396208,;CCP110,downstream_gene_variant,,ENST00000561888,;CCP110,intron_variant,,ENST00000562083,;	1106	53	32	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29899099	29899099	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774342907	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	34	0	ENST00000308713.5:c.1079G>T	p.Arg360Leu	p.R360L	ENST00000308713	NM_001114099.2	360	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS10659.1	1079	MUTECT|VARSCANS	.	CGATGCGGCCC	NONE	byFrequency	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000312550	.	7/17	.	.	.	.	.	.	.	.	rs774342907	7/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0.01)	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Arg32Leu,ENST00000563118,;SEZ6L2,missense_variant,p.Arg360Leu,ENST00000308713,;SEZ6L2,missense_variant,p.Arg290Leu,ENST00000350527,;SEZ6L2,missense_variant,p.Arg246Leu,ENST00000346932,;SEZ6L2,missense_variant,p.Arg316Leu,ENST00000537485,;SEZ6L2,downstream_gene_variant,,ENST00000562159,;SEZ6L2,upstream_gene_variant,,ENST00000568407,;	1607	34	22	SUCCESS
SLC38A7	55238	.	GRCh37	16	58706093	58706093	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	71	0	ENST00000219320.4:c.938C>A	p.Ser313Tyr	p.S313Y	ENST00000219320	NM_018231.1	313	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS10800.1	938	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAGGACAGG	NONE	.	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF192,Pfam_domain:PF01490	.	.	ENSP00000454646	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,missense_variant,p.Ser224Tyr,ENST00000564010,;SLC38A7,missense_variant,p.Ser313Tyr,ENST00000219320,;SLC38A7,missense_variant,p.Ser313Tyr,ENST00000570101,;SLC38A7,intron_variant,,ENST00000564100,;SLC38A7,downstream_gene_variant,,ENST00000570214,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000566953,;SLC38A7,3_prime_UTR_variant,,ENST00000566598,;SLC38A7,3_prime_UTR_variant,,ENST00000565785,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000562149,;SLC38A7,non_coding_transcript_exon_variant,,ENST00000569209,;	1822	71	43	SUCCESS
PRMT7	54496	.	GRCh37	16	68373424	68373424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	28	0	ENST00000339507.5:c.704C>A	p.Pro235Gln	p.P235Q	ENST00000339507		235	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS10866.1	704	RADIA|VARSCANS	.	GTCACCAGCCG	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF4,hmmpanther:PTHR11006,PIRSF_domain:PIRSF036946,Superfamily_domains:SSF53335	.	.	ENSP00000343103	.	8/19	.	.	.	.	.	.	.	.	.	8/19	oxog	ENST00000339507	Transcript	.	.	ENSG00000132600	25557	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.31)	.	ANM7_HUMAN	PRMT7	HGNC	H3BSS9_HUMAN,H3BRQ9_HUMAN,H3BRD3_HUMAN,H3BPZ8_HUMAN,H3BNS2_HUMAN	.	UPI0000041857	SNV	PRMT7,missense_variant,p.Pro185Gln,ENST00000441236,;PRMT7,missense_variant,p.Pro235Gln,ENST00000339507,;PRMT7,missense_variant,p.Pro161Gln,ENST00000348497,;PRMT7,missense_variant,p.Pro185Gln,ENST00000449359,;PRMT7,downstream_gene_variant,,ENST00000569571,;PRMT7,downstream_gene_variant,,ENST00000569047,;PRMT7,non_coding_transcript_exon_variant,,ENST00000563520,;PRMT7,non_coding_transcript_exon_variant,,ENST00000564441,;PRMT7,non_coding_transcript_exon_variant,,ENST00000564050,;PRMT7,downstream_gene_variant,,ENST00000563562,;PRMT7,missense_variant,p.Pro235Gln,ENST00000568975,;PRMT7,3_prime_UTR_variant,,ENST00000562050,;PRMT7,non_coding_transcript_exon_variant,,ENST00000565356,;PRMT7,non_coding_transcript_exon_variant,,ENST00000567542,;PRMT7,downstream_gene_variant,,ENST00000562381,;PRMT7,downstream_gene_variant,,ENST00000566341,;	1534	28	18	SUCCESS
TRPV2	51393	.	GRCh37	17	16325966	16325966	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs200299298	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	39	0	ENST00000338560.7:c.388G>T	p.Gly130Ter	p.G130*	ENST00000338560	NM_016113.4	130	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS32576.1	388	RADIA|VARSCANS	.	AGGACGGAGTC	BUFFER|p.G130G|c.390A>G|4	byCluster	.	hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF5,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Prints_domain:PR01768	.	.	ENSP00000342222	.	4/15	.	.	.	.	.	.	.	.	rs200299298	4/15	PASS	ENST00000338560	Transcript	.	.	ENSG00000187688	18082	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRPV2_HUMAN	TRPV2	HGNC	J3QKR1_HUMAN	.	UPI0000032F4E	SNV	TRPV2,stop_gained,p.Gly130Ter,ENST00000338560,;TRPV2,stop_gained,p.Gly88Ter,ENST00000455666,;TRPV2,5_prime_UTR_variant,,ENST00000577397,;AC093484.4,upstream_gene_variant,,ENST00000441875,;	787	39	20	SUCCESS
KRT42P	284116	.	GRCh37	17	39786742	39786742	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	51	0	ENST00000398469.1:n.1258G>T		p.*420*	ENST00000398469				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	GGCCCCGGCCA	NONE	.	.	.	.	.	.	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000398469	Transcript	.	.	ENSG00000214514	27581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KRT42P	HGNC	.	.	.	SNV	JUP,intron_variant,,ENST00000540235,;KRT42P,non_coding_transcript_exon_variant,,ENST00000398469,;KRT42P,non_coding_transcript_exon_variant,,ENST00000587390,;KRT42P,non_coding_transcript_exon_variant,,ENST00000438131,;KRT42P,downstream_gene_variant,,ENST00000589633,;KRT42P,upstream_gene_variant,,ENST00000587335,;KRT42P,non_coding_transcript_exon_variant,,ENST00000458343,;	1258	51	38	SUCCESS
TMEM106A	113277	.	GRCh37	17	41368750	41368750	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	16	97	0	ENST00000588659.1:c.605A>C	p.Glu202Ala	p.E202A	ENST00000588659		202	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS11462.1	605	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGAAAACA	NONE	.	.	Pfam_domain:PF07092	.	.	ENSP00000330774	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000331615	Transcript	.	.	ENSG00000184988	28288	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.446)	.	tolerated(0.05)	.	T106A_HUMAN	TMEM106A	HGNC	K7ERE2_HUMAN	.	UPI0000037780	SNV	TMEM106A,missense_variant,p.Glu155Ala,ENST00000536052,;TMEM106A,missense_variant,p.Glu202Ala,ENST00000331615,;TMEM106A,missense_variant,p.Glu202Ala,ENST00000588693,;TMEM106A,missense_variant,p.Glu154Ala,ENST00000541594,;TMEM106A,missense_variant,p.Glu202Ala,ENST00000588659,;LINC00854,downstream_gene_variant,,ENST00000595400,;LINC00854,downstream_gene_variant,,ENST00000427995,;LINC00854,downstream_gene_variant,,ENST00000593624,;LINC00854,downstream_gene_variant,,ENST00000433702,;LINC00854,downstream_gene_variant,,ENST00000594691,;LINC00854,downstream_gene_variant,,ENST00000597948,;LINC00854,downstream_gene_variant,,ENST00000598128,;LINC00854,downstream_gene_variant,,ENST00000598934,;LINC00854,downstream_gene_variant,,ENST00000598568,;LINC00854,downstream_gene_variant,,ENST00000599491,;TMEM106A,downstream_gene_variant,,ENST00000592564,;TMEM106A,downstream_gene_variant,,ENST00000592649,;TMEM106A,downstream_gene_variant,,ENST00000586685,;LINC00854,downstream_gene_variant,,ENST00000594857,;	842	97	134	SUCCESS
SPATA20	64847	.	GRCh37	17	48629417	48629417	+	synonymous_variant	Silent	SNP	G	G	A	rs746708709	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	94	0	ENST00000356488.4:c.1785G>A	p.Ala595=	p.A595=	ENST00000356488	NM_001258372.1	595	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11571.1	1833	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGTGGCT	NONE	byFrequency	.	Superfamily_domains:SSF48208,PIRSF_domain:PIRSF006402,Gene3D:1.50.10.10,hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145	.	.	ENSP00000006658	.	14/17	.	.	.	.	.	.	.	.	rs746708709	14/17	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,synonymous_variant,p.%3D,ENST00000356488,;SPATA20,synonymous_variant,p.%3D,ENST00000006658,;SPATA20,synonymous_variant,p.%3D,ENST00000393244,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505793,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505495,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,downstream_gene_variant,,ENST00000512416,;SPATA20,downstream_gene_variant,,ENST00000510917,;SPATA20,downstream_gene_variant,,ENST00000508598,;SPATA20,downstream_gene_variant,,ENST00000502911,;SPATA20,downstream_gene_variant,,ENST00000505559,;SPATA20,downstream_gene_variant,,ENST00000504271,;SPATA20,downstream_gene_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000511347,;SPATA20,downstream_gene_variant,,ENST00000504265,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000508528,;SPATA20,downstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000511605,;SPATA20,downstream_gene_variant,,ENST00000505456,;SPATA20,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000505085,;SPATA20,downstream_gene_variant,,ENST00000505336,;SPATA20,downstream_gene_variant,,ENST00000511845,;SPATA20,downstream_gene_variant,,ENST00000512181,;	1953	94	106	SUCCESS
GH2	2689	.	GRCh37	17	61957832	61957832	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	38	194	0	ENST00000423893.2:c.503C>A	p.Ser168Tyr	p.S168Y	ENST00000423893		168	tCc/tAc	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS11648.1	756	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGGACTGA	NONE	.	.	.	.	.	ENSP00000333157	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332800	Transcript	.	.	ENSG00000136487	4262	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOM2_HUMAN	GH2	HGNC	.	.	UPI000002B3EF	SNV	GH2,missense_variant,p.Pro167Thr,ENST00000456543,;GH2,missense_variant,p.Ser153Tyr,ENST00000449787,;GH2,missense_variant,p.Ser168Tyr,ENST00000423893,;GH2,synonymous_variant,p.%3D,ENST00000332800,;	890	194	204	SUCCESS
AXIN2	8313	.	GRCh37	17	63526129	63526129	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	49	0	ENST00000307078.5:c.2497G>T	p.Gly833Cys	p.G833C	ENST00000307078	NM_004655.3	833	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS11662.1	2497	MUTECT|VARSCANS	.	CCGGCCTTCAT	NONE	.	.	PROSITE_profiles:PS50841,Pfam_domain:PF00778,SMART_domains:SM00021,Superfamily_domains:SSF54236	.	.	ENSP00000302625	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,missense_variant,p.Gly768Cys,ENST00000375702,;AXIN2,missense_variant,p.Gly833Cys,ENST00000307078,;AXIN2,downstream_gene_variant,,ENST00000578251,;	2811	49	41	SUCCESS
EVPL	2125	.	GRCh37	17	74019605	74019605	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777009567	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	59	0	ENST00000301607.3:c.329C>A	p.Pro110Gln	p.P110Q	ENST00000301607	NM_001988.2	110	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS11737.1	329	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGCGGGTGC	NONE	byFrequency	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	3/22	.	.	.	.	.	.	.	.	rs777009567	3/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Pro110Gln,ENST00000586740,;EVPL,missense_variant,p.Pro110Gln,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	583	59	57	SUCCESS
MC5R	4161	.	GRCh37	18	13825959	13825959	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	54	0	ENST00000324750.3:c.195A>G	p.Lys65=	p.K65=	ENST00000324750	NM_005913.2	65	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS11868.1	195	MUTECT|VARSCANS	.	AACAAAAACCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00534	.	.	ENSP00000318077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000324750	Transcript	.	.	ENSG00000176136	6933	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MC5R_HUMAN	MC5R	HGNC	K7ER30_HUMAN	.	UPI0000050405	SNV	MC5R,synonymous_variant,p.%3D,ENST00000324750,;MC5R,synonymous_variant,p.%3D,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	417	54	46	SUCCESS
GATA6	2627	.	GRCh37	18	19780725	19780725	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757955115	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	37	0	ENST00000269216.3:c.1727C>T	p.Ser576Leu	p.S576L	ENST00000269216	NM_005257.4	576	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS11872.1	1727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTCGCCGG	NONE	.	.	hmmpanther:PTHR10071:SF23,hmmpanther:PTHR10071	.	.	ENSP00000269216	.	7/7	.	.	.	.	.	.	.	.	rs757955115	7/7	PASS	ENST00000269216	Transcript	.	.	ENSG00000141448	4174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	GATA6_HUMAN	GATA6	HGNC	Q05CA6_HUMAN	.	UPI0000201AC8	SNV	GATA6,missense_variant,p.Ser576Leu,ENST00000269216,;GATA6,missense_variant,p.Ser576Leu,ENST00000581694,;RP11-627G18.1,non_coding_transcript_exon_variant,,ENST00000583442,;	2004	37	36	SUCCESS
KIAA1468	0	.	GRCh37	18	59942653	59942653	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	88	0	ENST00000398130.2:c.2914G>A	p.Gly972Ser	p.G972S	ENST00000398130	NM_020854.3	972	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11979.2	2914	MUTECT|MUSE|VARSCANS	.	GGTATGGTGTT	NONE	.	.	hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000381198	.	22/29	.	.	.	.	.	.	.	.	.	22/29	PASS	ENST00000398130	Transcript	.	.	ENSG00000134444	29289	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.95)	.	tolerated(0.11)	.	K1468_HUMAN	KIAA1468	HGNC	Q96ES0_HUMAN	.	UPI0000DA5AF7	SNV	KIAA1468,missense_variant,p.Gly1006Ser,ENST00000256858,;KIAA1468,missense_variant,p.Gly972Ser,ENST00000398130,;KIAA1468,upstream_gene_variant,,ENST00000587764,;KIAA1468,missense_variant,p.Gly205Ser,ENST00000588446,;KIAA1468,missense_variant,p.Gly968Ser,ENST00000587725,;KIAA1468,downstream_gene_variant,,ENST00000586920,;KIAA1468,upstream_gene_variant,,ENST00000587198,;	3146	88	101	SUCCESS
KDSR	2531	.	GRCh37	18	61018193	61018193	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	48	0	ENST00000406396.3:c.537A>C	p.Gly179=	p.G179=	ENST00000406396	NM_002035.2	179	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS11982.1	537	RADIA|MUTECT|VARSCANS	.	AATAATCCCAA	NONE	.	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Gene3D:3.40.50.720,Pfam_domain:PF00106,PROSITE_patterns:PS00061,hmmpanther:PTHR24320:SF1,hmmpanther:PTHR24320	.	.	ENSP00000385083	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000406396	Transcript	.	.	ENSG00000119537	4021	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KDSR_HUMAN	KDSR	HGNC	.	.	UPI000004C798	SNV	KDSR,synonymous_variant,p.%3D,ENST00000406396,;KDSR,synonymous_variant,p.%3D,ENST00000591902,;KDSR,intron_variant,,ENST00000326575,;KDSR,downstream_gene_variant,,ENST00000592327,;KDSR,upstream_gene_variant,,ENST00000589592,;KDSR,non_coding_transcript_exon_variant,,ENST00000585750,;KDSR,upstream_gene_variant,,ENST00000586791,;KDSR,downstream_gene_variant,,ENST00000589530,;	929	48	45	SUCCESS
DOCK6	57572	.	GRCh37	19	11339690	11339690	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	45	0	ENST00000294618.7:c.2740C>T	p.Leu914=	p.L914=	ENST00000294618	NM_020812.3	914	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45975.1	2740	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCAGAGCCA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	.	.	ENSP00000294618	.	23/48	.	.	.	.	.	.	.	.	.	23/48	PASS	ENST00000294618	Transcript	1	.	ENSG00000130158	19189	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK6_HUMAN	DOCK6	HGNC	.	.	UPI000059D66F	SNV	DOCK6,synonymous_variant,p.%3D,ENST00000590680,;DOCK6,synonymous_variant,p.%3D,ENST00000585904,;DOCK6,synonymous_variant,p.%3D,ENST00000319867,;DOCK6,synonymous_variant,p.%3D,ENST00000294618,;DOCK6,synonymous_variant,p.%3D,ENST00000587656,;RN7SL298P,downstream_gene_variant,,ENST00000581369,;DOCK6,non_coding_transcript_exon_variant,,ENST00000590452,;	2752	45	31	SUCCESS
ZNF536	9745	.	GRCh37	19	31039499	31039499	+	synonymous_variant	Silent	SNP	G	G	T	rs755695983	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	30	0	ENST00000355537.3:c.2973G>T	p.Ser991=	p.S991=	ENST00000355537	NM_014717.1	991	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32984.1	2973	RADIA|VARSCANS	.	TCCTCGGTAAC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	rs755695983	4/5	oxog	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;ZNF536,downstream_gene_variant,,ENST00000585628,;	3120	30	31	SUCCESS
GPI	2821	.	GRCh37	19	34857692	34857692	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	31	0	ENST00000356487.5:c.218A>G	p.Lys73Arg	p.K73R	ENST00000356487	NM_000175.3	73	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS54246.1	335	RADIA|VARSCANS	.	GGCCAAGTCCA	NONE	.	.	hmmpanther:PTHR11469,hmmpanther:PTHR11469:SF4,HAMAP:MF_00473,PROSITE_profiles:PS51463,Superfamily_domains:SSF53697,Pfam_domain:PF00342,Gene3D:3.40.50.10490	.	.	ENSP00000405573	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000415930	Transcript	1	.	ENSG00000105220	4458	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	.	tolerated_low_confidence(0.73)	.	G6PI_HUMAN	GPI	HGNC	K7EPY4_HUMAN,K7ERK8_HUMAN,K7ELR7_HUMAN,K7EIL4_HUMAN,B4DE36_HUMAN	.	UPI00017A6DE4	SNV	GPI,missense_variant,p.Lys73Arg,ENST00000591204,;GPI,missense_variant,p.Lys73Arg,ENST00000590375,;GPI,missense_variant,p.Lys73Arg,ENST00000589399,;GPI,missense_variant,p.Lys112Arg,ENST00000415930,;GPI,missense_variant,p.Lys112Arg,ENST00000592277,;GPI,missense_variant,p.Lys88Arg,ENST00000588991,;GPI,missense_variant,p.Lys73Arg,ENST00000589640,;GPI,missense_variant,p.Lys112Arg,ENST00000587384,;GPI,missense_variant,p.Lys73Arg,ENST00000586425,;GPI,missense_variant,p.Lys73Arg,ENST00000356487,;GPI,downstream_gene_variant,,ENST00000587521,;GPI,3_prime_UTR_variant,,ENST00000592144,;GPI,non_coding_transcript_exon_variant,,ENST00000589504,;	505	31	35	SUCCESS
MAP4K1	11184	.	GRCh37	19	39108474	39108474	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1270787202	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	52	0	ENST00000591517.1:c.62A>G	p.Gln21Arg	p.Q21R	ENST00000591517	NM_007181.4	21	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS59385.1	62	RADIA|VARSCANS	.	GCCGCTGTAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	.	.	ENSP00000465039	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000591517	Transcript	.	.	ENSG00000104814	6863	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.353)	.	tolerated(0.06)	.	M4K1_HUMAN	MAP4K1	HGNC	.	.	UPI00000747ED	SNV	MAP4K1,missense_variant,p.Gln21Arg,ENST00000396857,;MAP4K1,missense_variant,p.Gln17Arg,ENST00000589130,;MAP4K1,missense_variant,p.Gln21Arg,ENST00000591517,;MAP4K1,missense_variant,p.Gln21Arg,ENST00000586296,;EIF3K,upstream_gene_variant,,ENST00000586513,;EIF3K,upstream_gene_variant,,ENST00000545173,;EIF3K,upstream_gene_variant,,ENST00000538434,;EIF3K,upstream_gene_variant,,ENST00000592558,;EIF3K,upstream_gene_variant,,ENST00000593149,;MAP4K1,upstream_gene_variant,,ENST00000423454,;EIF3K,upstream_gene_variant,,ENST00000591409,;EIF3K,upstream_gene_variant,,ENST00000589307,;EIF3K,upstream_gene_variant,,ENST00000588934,;EIF3K,upstream_gene_variant,,ENST00000248342,;MAP4K1,upstream_gene_variant,,ENST00000589002,;EIF3K,upstream_gene_variant,,ENST00000593062,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000588083,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000587300,;MAP4K1,upstream_gene_variant,,ENST00000592888,;EIF3K,upstream_gene_variant,,ENST00000586932,;EIF3K,upstream_gene_variant,,ENST00000588422,;MAP4K1,upstream_gene_variant,,ENST00000591707,;MAP4K1,upstream_gene_variant,,ENST00000592225,;MAP4K1,upstream_gene_variant,,ENST00000585583,;	91	52	37	SUCCESS
ECH1	1891	.	GRCh37	19	39322023	39322023	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	24	0	ENST00000221418.4:c.186T>C	p.Ser62=	p.S62=	ENST00000221418	NM_001398.2	62	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33014.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCAGACGT	NONE	.	.	hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF43,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096	.	.	ENSP00000221418	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000221418	Transcript	.	.	ENSG00000104823	3149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ECH1_HUMAN	ECH1	HGNC	M0QXS7_HUMAN	.	UPI0000071141	SNV	ECH1,synonymous_variant,p.%3D,ENST00000595470,;ECH1,synonymous_variant,p.%3D,ENST00000221418,;AC104534.3,synonymous_variant,p.%3D,ENST00000594769,;ECH1,synonymous_variant,p.%3D,ENST00000601778,;ECH1,5_prime_UTR_variant,,ENST00000595567,;ECH1,5_prime_UTR_variant,,ENST00000601094,;AC104534.3,intron_variant,,ENST00000602021,;ECH1,intron_variant,,ENST00000597205,;ECH1,downstream_gene_variant,,ENST00000602115,;ECH1,intron_variant,,ENST00000597805,;ECH1,3_prime_UTR_variant,,ENST00000594164,;ECH1,non_coding_transcript_exon_variant,,ENST00000597089,;ECH1,non_coding_transcript_exon_variant,,ENST00000600178,;ECH1,non_coding_transcript_exon_variant,,ENST00000598707,;ECH1,non_coding_transcript_exon_variant,,ENST00000596118,;ECH1,non_coding_transcript_exon_variant,,ENST00000601060,;ECH1,non_coding_transcript_exon_variant,,ENST00000598316,;	419	24	29	SUCCESS
AKT2	208	.	GRCh37	19	40741863	40741863	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	36	0	ENST00000392038.2:c.1109C>A	p.Pro370Gln	p.P370Q	ENST00000392038	NM_001626.4	370	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS12552.1	1109	RADIA|VARSCANS	.	TGCGCGGGAAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF28,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000375892	.	11/14	.	.	.	.	.	.	.	.	.	11/14	oxog	ENST00000392038	Transcript	1	.	ENSG00000105221	392	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AKT2_HUMAN	AKT2	HGNC	Q05BV0_HUMAN,M0QZK3_HUMAN,J3QQM6_HUMAN,J3QLS6_HUMAN,J3QL45_HUMAN,J3KSY8_HUMAN,J3KRI8_HUMAN,E7EVP8_HUMAN,C9JIJ1_HUMAN,C9JIF6_HUMAN,C9JHS6_HUMAN,C9JC83_HUMAN,C9J258_HUMAN,B4DG79_HUMAN,B3KP61_HUMAN,A8MX96_HUMAN	.	UPI0000049EDB	SNV	AKT2,missense_variant,p.Pro39Gln,ENST00000476247,;AKT2,missense_variant,p.Pro308Gln,ENST00000579047,;AKT2,missense_variant,p.Pro370Gln,ENST00000392038,;AKT2,missense_variant,p.Pro2Gln,ENST00000497948,;AKT2,missense_variant,p.Pro226Gln,ENST00000578615,;AKT2,missense_variant,p.Pro370Gln,ENST00000424901,;AKT2,missense_variant,p.Pro327Gln,ENST00000311278,;AKT2,downstream_gene_variant,,ENST00000578310,;AKT2,non_coding_transcript_exon_variant,,ENST00000391845,;AKT2,downstream_gene_variant,,ENST00000486647,;AKT2,downstream_gene_variant,,ENST00000480878,;AKT2,missense_variant,p.Pro26Gln,ENST00000489375,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,non_coding_transcript_exon_variant,,ENST00000483166,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000496089,;AKT2,downstream_gene_variant,,ENST00000578975,;AKT2,downstream_gene_variant,,ENST00000579345,;AKT2,downstream_gene_variant,,ENST00000537834,;AKT2,downstream_gene_variant,,ENST00000601166,;AKT2,downstream_gene_variant,,ENST00000580878,;AKT2,downstream_gene_variant,,ENST00000578282,;AKT2,downstream_gene_variant,,ENST00000492463,;AKT2,downstream_gene_variant,,ENST00000491778,;	1408	36	36	SUCCESS
PSG8	440533	.	GRCh37	19	43262154	43262154	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	37	0	ENST00000306511.4:c.709C>A	p.Pro237Thr	p.P237T	ENST00000306511	NM_182707.2	237	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS33037.1	709	RADIA|VARSCANS	.	CTCACGGAGGA	NONE	.	.	hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955	.	.	ENSP00000305005	.	3/5	.	.	.	.	.	.	.	.	.	3/5	oxog	ENST00000306511	Transcript	.	.	ENSG00000124467	9525	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.47)	.	PSG8_HUMAN	PSG8	HGNC	.	.	UPI0000071471	SNV	PSG8,missense_variant,p.Pro237Thr,ENST00000404209,;PSG8,missense_variant,p.Pro115Thr,ENST00000406636,;PSG8,missense_variant,p.Pro237Thr,ENST00000306511,;PSG8,intron_variant,,ENST00000401467,;PSG8,splice_region_variant,,ENST00000469260,;PSG8,splice_region_variant,,ENST00000600709,;PSG8,splice_region_variant,,ENST00000478387,;PSG8,upstream_gene_variant,,ENST00000466163,;	807	37	33	SUCCESS
QPCTL	54814	.	GRCh37	19	46202122	46202122	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760294625	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	37	0	ENST00000012049.5:c.850C>T	p.Arg284Cys	p.R284C	ENST00000012049	NM_017659.3	284	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS12672.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCGCACG	NONE	byFrequency	.	hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF3,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	.	.	ENSP00000012049	.	5/7	.	.	.	.	.	.	.	.	rs760294625,COSM3535962	5/7	PASS	ENST00000012049	Transcript	.	.	ENSG00000011478	25952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.868)	.	deleterious(0.01)	0,1	QPCTL_HUMAN	QPCTL	HGNC	.	.	UPI000013C51F	SNV	QPCTL,missense_variant,p.Arg190Cys,ENST00000366382,;QPCTL,missense_variant,p.Arg284Cys,ENST00000012049,;QPCTL,non_coding_transcript_exon_variant,,ENST00000592769,;QPCTL,downstream_gene_variant,,ENST00000591606,;	1071	37	26	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51957481	51957481	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764161936	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	38	0	ENST00000321424.3:c.1237G>T	p.Ala413Ser	p.A413S	ENST00000321424	NM_014442.2	413	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33086.1	1237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCCGAGC	NONE	byFrequency	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36	.	.	ENSP00000321077	.	6/7	.	.	.	.	.	.	.	.	rs764161936	6/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.468)	.	tolerated(0.21)	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,missense_variant,p.Ala320Ser,ENST00000340550,;SIGLEC8,missense_variant,p.Ala413Ser,ENST00000321424,;SIGLEC8,missense_variant,p.Ala304Ser,ENST00000430817,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	1304	38	32	SUCCESS
ZSCAN5A	79149	.	GRCh37	19	56735085	56735085	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs753586762	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	23	0	ENST00000391713.1:c.503C>A	p.Ser168Ter	p.S168*	ENST00000391713	NM_024303.1	168	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS12941.1	503	RADIA|VARSCANS	.	TCACCGAGGAG	NONE	.	.	hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032	.	.	ENSP00000467631	.	5/7	.	.	.	.	.	.	.	.	rs753586762	5/7	oxog	ENST00000587340	Transcript	.	.	ENSG00000131848	23710	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZSA5A_HUMAN	ZSCAN5A	HGNC	K7ESN6_HUMAN,K7ESE4_HUMAN,K7EQW6_HUMAN,K7EN85_HUMAN,K7EMC4_HUMAN,K7EIX9_HUMAN	.	UPI0000072024	SNV	ZSCAN5A,stop_gained,p.Ser22Ter,ENST00000587492,;ZSCAN5A,stop_gained,p.Ser22Ter,ENST00000593106,;ZSCAN5A,stop_gained,p.Ser168Ter,ENST00000592355,;ZSCAN5A,stop_gained,p.Ser168Ter,ENST00000587340,;ZSCAN5A,stop_gained,p.Ser168Ter,ENST00000391713,;ZSCAN5A,stop_gained,p.Ser51Ter,ENST00000254165,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;	1199	23	35	SUCCESS
SYCP1	6847	.	GRCh37	1	115401205	115401205	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1557748720	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	85	186	0	ENST00000369518.1:c.329A>G	p.Tyr110Cys	p.Y110C	ENST00000369518		110	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS879.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTATAAGG	NONE	.	.	hmmpanther:PTHR18878,Pfam_domain:PF05483	.	.	ENSP00000358535	.	6/32	.	.	.	.	.	.	.	.	.	6/32	PASS	ENST00000369522	Transcript	.	.	ENSG00000198765	11487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYCP1_HUMAN	SYCP1	HGNC	Q5VXJ5_HUMAN	.	UPI00001CE3B9	SNV	SYCP1,missense_variant,p.Tyr110Cys,ENST00000455987,;SYCP1,missense_variant,p.Tyr110Cys,ENST00000369518,;SYCP1,missense_variant,p.Tyr110Cys,ENST00000369522,;SYCP1,non_coding_transcript_exon_variant,,ENST00000477215,;SYCP1,upstream_gene_variant,,ENST00000468191,;	569	186	192	SUCCESS
MAN1A2	10905	.	GRCh37	1	118035855	118035855	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	86	0	ENST00000356554.3:c.1255G>T	p.Ala419Ser	p.A419S	ENST00000356554	NM_006699.3	419	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS895.1	1255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGCAAGA	NONE	.	.	hmmpanther:PTHR11742:SF40,hmmpanther:PTHR11742,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000348959	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000356554	Transcript	.	.	ENSG00000198162	6822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	deleterious(0.03)	.	MA1A2_HUMAN	MAN1A2	HGNC	.	.	UPI0000052B45	SNV	MAN1A2,missense_variant,p.Ala419Ser,ENST00000356554,;MAN1A2,missense_variant,p.Ala152Ser,ENST00000449370,;MAN1A2,upstream_gene_variant,,ENST00000421535,;	1990	86	65	SUCCESS
FCRL3	115352	.	GRCh37	1	157667132	157667132	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	57	0	ENST00000368184.3:c.642G>A	p.Gln214=	p.Q214=	ENST00000368184	NM_052939.3	214	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS1167.1	642	MUTECT|VARSCANS	.	GAGAGCTGGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF35,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357167	.	6/15	.	.	.	.	.	.	.	.	COSM4023537,COSM4023538	6/15	PASS	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,synonymous_variant,p.%3D,ENST00000368186,;FCRL3,synonymous_variant,p.%3D,ENST00000496769,;FCRL3,synonymous_variant,p.%3D,ENST00000368184,;RP11-367J7.3,downstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,intron_variant,,ENST00000494724,;FCRL3,intron_variant,,ENST00000478179,;FCRL3,synonymous_variant,p.%3D,ENST00000485028,;FCRL3,synonymous_variant,p.%3D,ENST00000492769,;FCRL3,intron_variant,,ENST00000477837,;	934	57	72	SUCCESS
CD1E	913	.	GRCh37	1	158323611	158323611	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs554894177	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	15	0	ENST00000368167.3:c.-168G>A		p.*56*	ENST00000368167	NM_030893.3			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS41417.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCGAGGCA	NONE	by1000G	.	.	A:0	.	ENSP00000357149	A:0	1/6	.	.	.	.	.	.	.	.	rs554894177	1/6	PASS	ENST00000368167	Transcript	.	A:0.0002	ENSG00000158488	1638	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,5_prime_UTR_variant,,ENST00000444681,;CD1E,5_prime_UTR_variant,,ENST00000368167,;CD1E,intron_variant,,ENST00000434258,;CD1E,upstream_gene_variant,,ENST00000368162,;CD1E,upstream_gene_variant,,ENST00000368165,;CD1E,upstream_gene_variant,,ENST00000368163,;CD1E,upstream_gene_variant,,ENST00000368166,;CD1E,upstream_gene_variant,,ENST00000368161,;CD1E,upstream_gene_variant,,ENST00000368154,;CD1E,upstream_gene_variant,,ENST00000368160,;CD1E,upstream_gene_variant,,ENST00000368156,;CD1E,upstream_gene_variant,,ENST00000368164,;CD1E,upstream_gene_variant,,ENST00000368155,;CD1E,upstream_gene_variant,,ENST00000452291,;CD1E,upstream_gene_variant,,ENST00000368157,;CD1E,upstream_gene_variant,,ENST00000464822,;	72	15	25	SUCCESS
TSTD1	100131187	.	GRCh37	1	161008750	161008750	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	51	0	ENST00000423014.2:c.-71G>A		p.*24*	ENST00000423014	NM_001113207.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53400.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCGTTCC	NONE	.	.	.	.	.	ENSP00000388293	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000423014	Transcript	.	.	ENSG00000215845	35410	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSTD1_HUMAN	TSTD1	HGNC	R4GNF9_HUMAN	.	UPI000007148A	SNV	TSTD1,5_prime_UTR_variant,,ENST00000423014,;TSTD1,5_prime_UTR_variant,,ENST00000368024,;USF1,downstream_gene_variant,,ENST00000435396,;TSTD1,upstream_gene_variant,,ENST00000368023,;TSTD1,upstream_gene_variant,,ENST00000318289,;USF1,downstream_gene_variant,,ENST00000534633,;USF1,downstream_gene_variant,,ENST00000531842,;USF1,downstream_gene_variant,,ENST00000368019,;USF1,downstream_gene_variant,,ENST00000528768,;USF1,downstream_gene_variant,,ENST00000368021,;TSTD1,upstream_gene_variant,,ENST00000466967,;USF1,downstream_gene_variant,,ENST00000368020,;RP11-544M22.13,5_prime_UTR_variant,,ENST00000470694,;USF1,downstream_gene_variant,,ENST00000496363,;TSTD1,upstream_gene_variant,,ENST00000462952,;USF1,downstream_gene_variant,,ENST00000473969,;USF1,downstream_gene_variant,,ENST00000491629,;TSTD1,upstream_gene_variant,,ENST00000486084,;RP11-544M22.13,upstream_gene_variant,,ENST00000289779,;USF1,downstream_gene_variant,,ENST00000472217,;USF1,downstream_gene_variant,,ENST00000529476,;RP11-544M22.3,downstream_gene_variant,,ENST00000433122,;	31	51	54	SUCCESS
MGST3	4259	.	GRCh37	1	165601496	165601496	+	intron_variant	Intron	SNP	G	G	A	rs377067925	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	15	54	1	ENST00000367884.2:c.-104+967G>A		p.*35*	ENST00000367884				0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS1249.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGCTTCC	NONE	byFrequency|byCluster	.	.	.	A:0.0003	ENSP00000356864	.	.	.	.	.	.	.	.	.	.	rs377067925	.	PASS	ENST00000367889	Transcript	.	.	ENSG00000143198	7064	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGST3_HUMAN	MGST3	HGNC	Q2F833_HUMAN	.	UPI000012BC86	SNV	MGST3,missense_variant,p.Arg7His,ENST00000367886,;MGST3,missense_variant,p.Arg7His,ENST00000367885,;MGST3,missense_variant,p.Arg7His,ENST00000367883,;MGST3,intron_variant,,ENST00000367889,;MGST3,intron_variant,,ENST00000367884,;MGST3,intron_variant,,ENST00000367888,;MGST3,intron_variant,,ENST00000460632,;MGST3,intron_variant,,ENST00000488688,;MGST3,intron_variant,,ENST00000461308,;MGST3,intron_variant,,ENST00000495447,;	.	55	118	SUCCESS
CEP350	9857	.	GRCh37	1	179989459	179989459	+	synonymous_variant	Silent	SNP	C	C	T	rs776336094	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	47	0	ENST00000367607.3:c.2550C>T	p.Ser850=	p.S850=	ENST00000367607	NM_014810.4	850	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1336.1	2550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCATTAA	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	12/38	.	.	.	.	.	.	.	.	rs776336094	12/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,synonymous_variant,p.%3D,ENST00000367607,;	2968	47	74	SUCCESS
PTPN7	5778	.	GRCh37	1	202119404	202119404	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	42	0	ENST00000495688.1:c.989+35T>A		p.*330*	ENST00000495688				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1423.2	.	RADIA|VARSCANS	.	CCGTTAACGTT	NONE	.	.	.	.	.	ENSP00000309116	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309017	Transcript	.	.	ENSG00000143851	9659	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PTPN7	HGNC	E9PE54_HUMAN,E7EUM0_HUMAN,C9JBA9_HUMAN,B4DX06_HUMAN,B4DDG6_HUMAN	.	UPI00004701F6	SNV	PTPN7,intron_variant,,ENST00000477554,;PTPN7,intron_variant,,ENST00000543735,;PTPN7,intron_variant,,ENST00000367279,;PTPN7,intron_variant,,ENST00000309017,;PTPN7,intron_variant,,ENST00000544762,;PTPN7,intron_variant,,ENST00000308986,;PTPN7,downstream_gene_variant,,ENST00000477625,;PTPN7,downstream_gene_variant,,ENST00000476061,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,downstream_gene_variant,,ENST00000479092,;PTPN7,intron_variant,,ENST00000495688,;PTPN7,intron_variant,,ENST00000496197,;PTPN7,intron_variant,,ENST00000480836,;PTPN7,intron_variant,,ENST00000462815,;	.	42	34	SUCCESS
HSPG2	3339	.	GRCh37	1	22173039	22173039	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs545072429	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	77	0	ENST00000374695.3:c.8218G>A	p.Glu2740Lys	p.E2740K	ENST00000374695	NM_005529.5	2740	Gaa/Aaa	0	.	T:0	.	T:0.0014	.	T	E/K	protein_coding	YES	CCDS30625.1	8218	RADIA|MUTECT|VARSCANS	.	CCCTTCGGCCA	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	.	ENSP00000363827	T:0	63/97	.	.	.	.	.	.	.	.	rs545072429	63/97	PASS	ENST00000374695	Transcript	.	T:0.0002	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	T:0	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Glu155Lys,ENST00000453796,;HSPG2,missense_variant,p.Glu2740Lys,ENST00000374695,;HSPG2,3_prime_UTR_variant,,ENST00000430507,;HSPG2,downstream_gene_variant,,ENST00000493940,;	8298	77	55	SUCCESS
OR2G2	81470	.	GRCh37	1	247751732	247751732	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759345162	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	261	82	266	0	ENST00000320065.1:c.71C>T	p.Pro24Leu	p.P24L	ENST00000320065	NM_001001915.1	24	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS31092.1	71	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCCTCAGT	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326349	.	1/1	.	.	.	.	.	.	.	.	rs759345162	1/1	PASS	ENST00000320065	Transcript	.	.	ENSG00000177489	15007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	OR2G2_HUMAN	OR2G2	HGNC	.	.	UPI0000061EB9	SNV	OR2G2,missense_variant,p.Pro24Leu,ENST00000320065,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	71	266	343	SUCCESS
BRDT	676	.	GRCh37	1	92433718	92433718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	56	0	ENST00000362005.3:c.346G>T	p.Val116Phe	p.V116F	ENST00000362005	NM_001242805.1	116	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS735.1	346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTGTTCTT	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000354568	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000362005	Transcript	.	.	ENSG00000137948	1105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BRDT_HUMAN	BRDT	HGNC	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN	.	UPI000013D0E1	SNV	BRDT,missense_variant,p.Val116Phe,ENST00000440509,;BRDT,missense_variant,p.Val116Phe,ENST00000427104,;BRDT,missense_variant,p.Val43Phe,ENST00000370389,;BRDT,missense_variant,p.Val116Phe,ENST00000426141,;BRDT,missense_variant,p.Val43Phe,ENST00000552654,;BRDT,missense_variant,p.Val116Phe,ENST00000402388,;BRDT,missense_variant,p.Val70Phe,ENST00000394530,;BRDT,missense_variant,p.Val116Phe,ENST00000362005,;BRDT,missense_variant,p.Val116Phe,ENST00000399546,;BRDT,missense_variant,p.Val116Phe,ENST00000423434,;BRDT,missense_variant,p.Val116Phe,ENST00000448194,;BRDT,downstream_gene_variant,,ENST00000548992,;BRDT,downstream_gene_variant,,ENST00000450792,;	764	56	48	SUCCESS
ASXL1	171023	.	GRCh37	20	31022742	31022752	+	frameshift_variant	Frame_Shift_Del	DEL	CTAGGAGATGC	CTAGGAGATGC	-	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	CTAGGAGATGC	CTAGGAGATGC	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	71	0	ENST00000375687.4:c.2229_2239del	p.Gly744ProfsTer26	p.G744Pfs*26	ENST00000375687	NM_015338.5	743	CTAGGAGATGCc/c	0	.	.	.	.	.	-	LGDA/X	protein_coding	YES	CCDS13201.1	2227-2237	INDELOCATOR*|VARSCANI*|PINDEL	.	GATGGGCTAGGAGATGCCTCCC	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	deletion	ASXL1,frameshift_variant,p.Gly744ProfsTer26,ENST00000375687,;ASXL1,frameshift_variant,p.Gly739ProfsTer26,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;	2651-2661	71	55	SUCCESS
TNFRSF6B	8771	.	GRCh37	20	62329759	62329759	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1275876768	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	35	0	ENST00000369996.1:c.746G>A	p.Gly249Asp	p.G249D	ENST00000369996	NM_003823.3	249	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS13532.1	746	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGCCGCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000359013	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000369996	Transcript	.	.	ENSG00000243509	11921	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.7)	.	TNF6B_HUMAN	TNFRSF6B	HGNC	H0UI95_HUMAN	.	UPI0000032CAD	SNV	TNFRSF6B,missense_variant,p.Gly249Asp,ENST00000369996,;ARFRP1,downstream_gene_variant,,ENST00000609142,;ARFRP1,downstream_gene_variant,,ENST00000217224,;RTEL1,downstream_gene_variant,,ENST00000370018,;ARFRP1,downstream_gene_variant,,ENST00000324228,;RTEL1,downstream_gene_variant,,ENST00000360203,;ARFRP1,downstream_gene_variant,,ENST00000440854,;RTEL1,downstream_gene_variant,,ENST00000318100,;RTEL1,downstream_gene_variant,,ENST00000508582,;ARFRP1,downstream_gene_variant,,ENST00000359715,;RTEL1,downstream_gene_variant,,ENST00000370003,;ARFRP1,downstream_gene_variant,,ENST00000607873,;ARFRP1,downstream_gene_variant,,ENST00000609188,;ARFRP1,downstream_gene_variant,,ENST00000485858,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000482936,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;ARFRP1,downstream_gene_variant,,ENST00000609243,;RTEL1,downstream_gene_variant,,ENST00000496816,;ARFRP1,downstream_gene_variant,,ENST00000610136,;ARFRP1,downstream_gene_variant,,ENST00000609537,;	846	35	30	SUCCESS
LIPI	149998	.	GRCh37	21	15579152	15579152	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	20	0	ENST00000344577.2:c.93T>C	p.Val31=	p.V31=	ENST00000344577	NM_198996.2	31	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS13564.1	93	RADIA|VARSCANS	.	CACACAACTAG	NONE	.	.	hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000343331	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,synonymous_variant,p.%3D,ENST00000344577,;LIPI,intron_variant,,ENST00000536861,;	119	20	32	SUCCESS
C21orf128	0	.	GRCh37	21	43523889	43523889	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138845188	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	81	0	ENST00000329015.2:c.344G>A	p.Gly115Glu	p.G115E	ENST00000329015		115	gGa/gAa	0	T:0.0014	T:0.0038	.	T:0	.	T	G/E	protein_coding	YES	.	344	MUTECT|MUSE|VARSCANS	.	TGGCTCCAAGC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000328495	T:0	2/2	.	.	.	.	.	.	.	.	rs138845188	2/2	PASS	ENST00000329015	Transcript	.	T:0.0010	ENSG00000184385	23821	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.969)	T:0	deleterious_low_confidence(0)	.	CU128_HUMAN	C21orf128	HGNC	.	.	UPI000006FBA4	SNV	C21orf128,missense_variant,p.Gly115Glu,ENST00000329015,;UMODL1,intron_variant,,ENST00000400424,;UMODL1,intron_variant,,ENST00000400427,;UMODL1,intron_variant,,ENST00000408910,;UMODL1,intron_variant,,ENST00000408989,;UMODL1,intron_variant,,ENST00000466434,;UMODL1,intron_variant,,ENST00000497243,;UMODL1,intron_variant,,ENST00000468982,;UMODL1,intron_variant,,ENST00000491559,;UMODL1,intron_variant,,ENST00000400421,;UMODL1,intron_variant,,ENST00000485357,;	496	81	87	SUCCESS
GGT2	728441	.	GRCh37	22	21563359	21563359	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762245570	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	109	1	ENST00000401924.1:c.1265C>T	p.Thr422Met	p.T422M	ENST00000401924		422	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	.	1265	RADIA|SOMATICSNIPER|VARSCANS	.	AAGTCGTCCAT	NONE	byFrequency	.	Prints_domain:PR01210,Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF1	.	.	ENSP00000385721	.	12/15	.	.	.	.	.	.	.	.	rs762245570	12/15	PASS	ENST00000401924	Transcript	.	.	ENSG00000133475	4251	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.318)	.	deleterious(0)	.	GGT2_HUMAN	GGT2	HGNC	C9JIY6_HUMAN,C9JGF3_HUMAN	.	UPI00004DE9E9	SNV	GGT2,missense_variant,p.Thr412Met,ENST00000405188,;GGT2,missense_variant,p.Thr422Met,ENST00000424627,;GGT2,missense_variant,p.Thr422Met,ENST00000401924,;	1757	111	73	SUCCESS
PDGFB	5155	.	GRCh37	22	39621841	39621841	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	65	0	ENST00000331163.6:c.613C>T	p.Gln205Ter	p.Q205*	ENST00000331163	NM_002608.2	205	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS13987.1	613	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTGGGGCG	NONE	.	.	hmmpanther:PTHR11633,hmmpanther:PTHR11633:SF2	.	.	ENSP00000330382	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000331163	Transcript	.	.	ENSG00000100311	8800	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDGFB_HUMAN	PDGFB	HGNC	Q9UE57_HUMAN,Q9UE56_HUMAN,P78450_HUMAN,A9UJP0_HUMAN,A9UJN9_HUMAN	.	UPI000004110E	SNV	PDGFB,stop_gained,p.Gln205Ter,ENST00000331163,;PDGFB,stop_gained,p.Gln190Ter,ENST00000381551,;PDGFB,downstream_gene_variant,,ENST00000455790,;PDGFB,downstream_gene_variant,,ENST00000440375,;	1401	65	64	SUCCESS
KCNF1	3754	.	GRCh37	2	11053487	11053487	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1408325931	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	59	0	ENST00000295082.1:c.935C>T	p.Thr312Ile	p.T312I	ENST00000295082	NM_002236.4	312	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1676.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACCCTCA	NONE	.	.	hmmpanther:PTHR11537:SF42,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000295082	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295082	Transcript	.	.	ENSG00000162975	6246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNF1_HUMAN	KCNF1	HGNC	.	.	UPI000012DC98	SNV	KCNF1,missense_variant,p.Thr312Ile,ENST00000295082,;	1425	59	59	SUCCESS
RAB6C-AS1	100131320	.	GRCh37	2	130725851	130725851	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	12	0	ENST00000412425.1:n.768A>G		p.*256*	ENST00000412425				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	GCGCTTCTGTT	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000412425	Transcript	.	.	ENSG00000225449	49278	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RAB6C-AS1	HGNC	.	.	.	SNV	RAB6C-AS1,non_coding_transcript_exon_variant,,ENST00000412425,;RAB6C-AS1,non_coding_transcript_exon_variant,,ENST00000433431,;	768	12	34	SUCCESS
LY75	4065	.	GRCh37	2	160737645	160737645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	73	0	ENST00000263636.4:c.1353G>T	p.Glu451Asp	p.E451D	ENST00000263636	NM_002349.3	451	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS56141.1	1353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCTCATT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Glu451Asp,ENST00000504764,;LY75,missense_variant,p.Glu451Asp,ENST00000553424,;LY75,missense_variant,p.Glu451Asp,ENST00000554112,;LY75,missense_variant,p.Glu451Asp,ENST00000263636,;LY75-CD302,missense_variant,p.Glu451Asp,ENST00000505052,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	1381	73	102	SUCCESS
LY75	4065	.	GRCh37	2	160737646	160737646	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	42	72	0	ENST00000263636.4:c.1352A>T	p.Glu451Val	p.E451V	ENST00000263636	NM_002349.3	451	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS56141.1	1352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTCATTC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	8/39	.	.	.	.	.	.	.	.	.	8/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Glu451Val,ENST00000504764,;LY75,missense_variant,p.Glu451Val,ENST00000553424,;LY75,missense_variant,p.Glu451Val,ENST00000554112,;LY75,missense_variant,p.Glu451Val,ENST00000263636,;LY75-CD302,missense_variant,p.Glu451Val,ENST00000505052,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	1380	73	103	SUCCESS
CEBPZ	10153	.	GRCh37	2	37455644	37455644	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	26	80	0	ENST00000234170.5:c.692C>G	p.Ser231Cys	p.S231C	ENST00000234170	NM_005760.2	231	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS1787.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAGAGGCT	NONE	.	.	hmmpanther:PTHR12048	.	.	ENSP00000234170	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000234170	Transcript	.	.	ENSG00000115816	24218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0)	.	CEBPZ_HUMAN	CEBPZ	HGNC	.	.	UPI0000072AAB	SNV	CEBPZ,missense_variant,p.Ser231Cys,ENST00000234170,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000002125,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;CEBPZ,downstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;NDUFAF7,upstream_gene_variant,,ENST00000336237,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;	838	80	112	SUCCESS
ANXA4	307	.	GRCh37	2	70015202	70015202	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1559195335	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	25	0	ENST00000394295.4:c.26C>T	p.Thr9Ile	p.T9I	ENST00000394295	NM_001153.3	9	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1894.1	26	RADIA|MUTECT|VARSCANS	.	AGGTACTGTCA	NONE	.	.	Superfamily_domains:SSF47874,Gene3D:1.10.220.10,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF28	.	.	ENSP00000377833	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000394295	Transcript	.	.	ENSG00000196975	542	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	ANXA4_HUMAN	ANXA4	HGNC	Q6MZI0_HUMAN,Q6LES2_HUMAN,B4DDF9_HUMAN	.	UPI000013D51A	SNV	ANXA4,missense_variant,p.Thr9Ile,ENST00000409920,;ANXA4,missense_variant,p.Thr9Ile,ENST00000394295,;ANXA4,intron_variant,,ENST00000536030,;ANXA4,non_coding_transcript_exon_variant,,ENST00000460439,;ANXA4,non_coding_transcript_exon_variant,,ENST00000487351,;ANXA4,non_coding_transcript_exon_variant,,ENST00000484219,;ANXA4,intron_variant,,ENST00000460942,;ANXA4,non_coding_transcript_exon_variant,,ENST00000477632,;	274	25	40	SUCCESS
RSAD2	91543	.	GRCh37	2	7033836	7033836	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	36	0	ENST00000382040.3:c.921+2T>C		p.X307_splice	ENST00000382040	NM_080657.4	307		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1656.1	.	RADIA|VARSCANS	.	ATATGTGAGTA	NONE	.	.	.	.	.	ENSP00000371471	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382040	Transcript	.	.	ENSG00000134321	30908	.	.	HIGH	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSAD2_HUMAN	RSAD2	HGNC	.	.	UPI000007242A	SNV	RSAD2,splice_donor_variant,,ENST00000541728,;RSAD2,splice_donor_variant,,ENST00000382040,;	.	36	56	SUCCESS
MAT2A	4144	.	GRCh37	2	85769191	85769191	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	31	0	ENST00000306434.3:c.550-87G>C		p.*184*	ENST00000306434	NM_005911.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1977.1	.	RADIA|VARSCANS	.	CATTTGTTTTC	NONE	.	.	.	.	.	ENSP00000303147	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306434	Transcript	.	.	ENSG00000168906	6904	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	METK2_HUMAN	MAT2A	HGNC	B4DN45_HUMAN,B4DEX8_HUMAN	.	UPI0000000C32	SNV	MAT2A,intron_variant,,ENST00000306434,;MAT2A,intron_variant,,ENST00000409017,;GGCX,downstream_gene_variant,,ENST00000233838,;MAT2A,non_coding_transcript_exon_variant,,ENST00000490878,;MAT2A,intron_variant,,ENST00000481412,;MAT2A,downstream_gene_variant,,ENST00000469221,;MAT2A,downstream_gene_variant,,ENST00000465151,;	.	31	39	SUCCESS
NEK11	79858	.	GRCh37	3	130828741	130828741	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	17	140	0	ENST00000383366.4:c.431T>C	p.Leu144Pro	p.L144P	ENST00000383366	NM_024800.4	144	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS3069.1	431	MUTECT|MUSE|VARSCANS	.	GCTGCTGGGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000372857	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000383366	Transcript	.	.	ENSG00000114670	18593	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	NEK11_HUMAN	NEK11	HGNC	.	.	UPI000013F25D	SNV	NEK11,missense_variant,p.Leu144Pro,ENST00000383366,;NEK11,missense_variant,p.Leu144Pro,ENST00000508196,;NEK11,missense_variant,p.Leu144Pro,ENST00000356918,;NEK11,missense_variant,p.Leu144Pro,ENST00000507910,;NEK11,missense_variant,p.Leu144Pro,ENST00000510769,;NEK11,missense_variant,p.Leu144Pro,ENST00000511262,;NEK11,missense_variant,p.Leu144Pro,ENST00000510688,;NEK11,missense_variant,p.Leu144Pro,ENST00000429253,;NEK11,5_prime_UTR_variant,,ENST00000412440,;AC121332.1,downstream_gene_variant,,ENST00000390784,;NEK11,non_coding_transcript_exon_variant,,ENST00000426022,;NEK11,non_coding_transcript_exon_variant,,ENST00000510926,;NEK11,missense_variant,p.Leu88Pro,ENST00000602792,;NEK11,missense_variant,p.Leu144Pro,ENST00000514915,;NEK11,3_prime_UTR_variant,,ENST00000510474,;NEK11,non_coding_transcript_exon_variant,,ENST00000506695,;	724	140	214	SUCCESS
ATP13A3	79572	.	GRCh37	3	194168612	194168612	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	11	127	0	ENST00000256031.4:c.1277T>G	p.Ile426Ser	p.I426S	ENST00000256031	NM_024524.3	426	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS43187.1	1277	MUTECT|MUSE	.	TGTAGATAAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF249,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473	.	.	ENSP00000416508	.	13/33	.	.	.	.	.	.	.	.	.	13/33	PASS	ENST00000439040	Transcript	.	.	ENSG00000133657	24113	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.259)	.	deleterious(0)	.	AT133_HUMAN	ATP13A3	HGNC	C9JAP7_HUMAN,C9J7Z7_HUMAN	.	UPI000049DFC3	SNV	ATP13A3,missense_variant,p.Ile426Ser,ENST00000256031,;ATP13A3,missense_variant,p.Ile426Ser,ENST00000439040,;ATP13A3,non_coding_transcript_exon_variant,,ENST00000485194,;	2069	127	167	SUCCESS
LSG1	55341	.	GRCh37	3	194380824	194380824	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	43	0	ENST00000265245.5:c.560T>C	p.Leu187Pro	p.L187P	ENST00000265245	NM_018385.2	187	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS33922.1	560	RADIA|VARSCANS	.	ACAGGAGTGGG	NONE	.	.	PROSITE_profiles:PS51721,hmmpanther:PTHR11089:SF7,hmmpanther:PTHR11089,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000265245	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000265245	Transcript	.	.	ENSG00000041802	25652	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LSG1_HUMAN	LSG1	HGNC	.	.	UPI0000DBEEC1	SNV	LSG1,missense_variant,p.Leu187Pro,ENST00000265245,;LSG1,3_prime_UTR_variant,,ENST00000427461,;	875	43	43	SUCCESS
CCDC13	152206	.	GRCh37	3	42754745	42754745	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	37	0	ENST00000310232.6:c.1782C>T	p.Arg594=	p.R594=	ENST00000310232	NM_144719.3	594	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2705.1	1782	RADIA|MUTECT|VARSCANS	.	ACGGTGCGGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,synonymous_variant,p.%3D,ENST00000310232,;CCDC13,non_coding_transcript_exon_variant,,ENST00000472921,;CCDC13,non_coding_transcript_exon_variant,,ENST00000496027,;CCDC13,non_coding_transcript_exon_variant,,ENST00000479631,;CCDC13,non_coding_transcript_exon_variant,,ENST00000466031,;CCDC13,downstream_gene_variant,,ENST00000482100,;	1866	37	31	SUCCESS
COL7A1	1294	.	GRCh37	3	48609431	48609431	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	95	0	ENST00000328333.8:c.7068+3G>T		p.X2356_splice	ENST00000328333	NM_000094.3	2356		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2773.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCACATC	NONE	.	.	.	.	.	ENSP00000332371	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	LOW	91/117	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,splice_region_variant,,ENST00000328333,;COL7A1,splice_region_variant,,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000462475,;COL7A1,upstream_gene_variant,,ENST00000474432,;COL7A1,upstream_gene_variant,,ENST00000459756,;	.	95	81	SUCCESS
MIR425	494337	.	GRCh37	3	49057609	49057609	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	34	0	ENST00000362162.1:n.59G>A		p.*20*	ENST00000362162				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33754.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCCGATG	NONE	.	1605	.	.	.	ENSP00000344989	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341949	Transcript	.	.	ENSG00000178149	25536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DALD3_HUMAN	DALRD3	HGNC	.	.	UPI00000622F0	SNV	DALRD3,intron_variant,,ENST00000313778,;DALRD3,intron_variant,,ENST00000440857,;IMPDH2,downstream_gene_variant,,ENST00000429182,;WDR6,downstream_gene_variant,,ENST00000395474,;WDR6,downstream_gene_variant,,ENST00000448293,;WDR6,downstream_gene_variant,,ENST00000415265,;NDUFAF3,upstream_gene_variant,,ENST00000326925,;NDUFAF3,upstream_gene_variant,,ENST00000326912,;DALRD3,upstream_gene_variant,,ENST00000420952,;IMPDH2,downstream_gene_variant,,ENST00000326739,;DALRD3,upstream_gene_variant,,ENST00000438585,;DALRD3,upstream_gene_variant,,ENST00000441576,;WDR6,downstream_gene_variant,,ENST00000608424,;DALRD3,upstream_gene_variant,,ENST00000395462,;DALRD3,upstream_gene_variant,,ENST00000341949,;NDUFAF3,upstream_gene_variant,,ENST00000395458,;NDUFAF3,upstream_gene_variant,,ENST00000451378,;MIR425,non_coding_transcript_exon_variant,,ENST00000362162,;MIR191,downstream_gene_variant,,ENST00000384873,;DALRD3,intron_variant,,ENST00000492585,;DALRD3,intron_variant,,ENST00000496568,;WDR6,downstream_gene_variant,,ENST00000452875,;IMPDH2,downstream_gene_variant,,ENST00000463903,;IMPDH2,downstream_gene_variant,,ENST00000484872,;IMPDH2,downstream_gene_variant,,ENST00000481274,;IMPDH2,downstream_gene_variant,,ENST00000472328,;NDUFAF3,upstream_gene_variant,,ENST00000480392,;NDUFAF3,upstream_gene_variant,,ENST00000496152,;DALRD3,upstream_gene_variant,,ENST00000498794,;DALRD3,upstream_gene_variant,,ENST00000481001,;WDR6,downstream_gene_variant,,ENST00000471162,;DALRD3,upstream_gene_variant,,ENST00000467457,;DALRD3,upstream_gene_variant,,ENST00000484831,;DALRD3,upstream_gene_variant,,ENST00000472331,;DALRD3,upstream_gene_variant,,ENST00000498498,;IMPDH2,downstream_gene_variant,,ENST00000466147,;DALRD3,upstream_gene_variant,,ENST00000460505,;WDR6,downstream_gene_variant,,ENST00000420783,;	.	34	34	SUCCESS
USP4	7375	.	GRCh37	3	49365180	49365180	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs536745381	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	16	117	0	ENST00000265560.4:c.299C>G	p.Ala100Gly	p.A100G	ENST00000265560	NM_003363.3	100	gCg/gGg	0	.	A:0	.	A:0	.	C	A/G	protein_coding	YES	CCDS2793.1	299	RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGCCTCG	NONE	by1000G	.	PROSITE_profiles:PS51283,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Gene3D:3jyuB01,Pfam_domain:PF06337,SMART_domains:SM00695,Superfamily_domains:0050384	A:0	.	ENSP00000265560	A:0	3/22	.	.	.	.	.	.	.	.	rs536745381	3/22	PASS	ENST00000265560	Transcript	.	A:0.0002	ENSG00000114316	12627	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	A:0.001	tolerated(0.2)	.	UBP4_HUMAN	USP4	HGNC	.	.	UPI000013D63C	SNV	USP4,missense_variant,p.Ala100Gly,ENST00000351842,;USP4,missense_variant,p.Ala100Gly,ENST00000265560,;USP4,missense_variant,p.Ala100Gly,ENST00000415188,;USP4,missense_variant,p.Ala100Gly,ENST00000416417,;USP4,non_coding_transcript_exon_variant,,ENST00000491791,;USP4,non_coding_transcript_exon_variant,,ENST00000486549,;USP4,non_coding_transcript_exon_variant,,ENST00000464168,;	346	117	144	SUCCESS
SNCAIP	9627	.	GRCh37	5	121767681	121767681	+	synonymous_variant	Silent	SNP	C	C	T	rs772706842	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	34	96	0	ENST00000261368.8:c.1200C>T	p.Cys400=	p.C400=	ENST00000261368	NM_005460.2	400	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS4131.1	1200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCGTACG	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR22882,PROSITE_profiles:PS50297	.	.	ENSP00000261368	.	6/11	.	.	.	.	.	.	.	.	rs772706842	6/11	PASS	ENST00000261368	Transcript	1	.	ENSG00000064692	11139	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNCAP_HUMAN	SNCAIP	HGNC	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN	.	UPI000006D872	SNV	SNCAIP,synonymous_variant,p.%3D,ENST00000503116,;SNCAIP,synonymous_variant,p.%3D,ENST00000379536,;SNCAIP,synonymous_variant,p.%3D,ENST00000509154,;SNCAIP,synonymous_variant,p.%3D,ENST00000261368,;SNCAIP,synonymous_variant,p.%3D,ENST00000379538,;SNCAIP,synonymous_variant,p.%3D,ENST00000379533,;SNCAIP,synonymous_variant,p.%3D,ENST00000261367,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;SNCAIP,5_prime_UTR_variant,,ENST00000542191,;SNCAIP,intron_variant,,ENST00000414317,;CTC-210G5.1,downstream_gene_variant,,ENST00000510972,;CTC-210G5.1,downstream_gene_variant,,ENST00000506053,;CTC-210G5.1,downstream_gene_variant,,ENST00000509993,;SNCAIP,missense_variant,p.Arg50Cys,ENST00000508017,;SNCAIP,missense_variant,p.Arg97Cys,ENST00000512146,;SNCAIP,missense_variant,p.Arg50Cys,ENST00000512385,;SNCAIP,missense_variant,p.Arg50Cys,ENST00000510658,;SNCAIP,missense_variant,p.Arg50Cys,ENST00000515215,;SNCAIP,synonymous_variant,p.%3D,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000510003,;SNCAIP,intron_variant,,ENST00000509023,;	1462	96	132	SUCCESS
FAM13B	51306	.	GRCh37	5	137284796	137284796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	17	135	0	ENST00000033079.3:c.1942G>A	p.Gly648Ser	p.G648S	ENST00000033079	NM_016603.2	648	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4195.1	1942	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCAAAGC	NONE	.	.	hmmpanther:PTHR15904:SF16,hmmpanther:PTHR15904	.	.	ENSP00000033079	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000033079	Transcript	.	.	ENSG00000031003	1335	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA13B_HUMAN	FAM13B	HGNC	D6RE97_HUMAN,D6RDL7_HUMAN,D6RCA0_HUMAN,D6RBJ3_HUMAN,D6RAT6_HUMAN	.	UPI000004A03C	SNV	FAM13B,missense_variant,p.Gly648Ser,ENST00000420893,;FAM13B,missense_variant,p.Gly648Ser,ENST00000033079,;FAM13B,missense_variant,p.Gly552Ser,ENST00000425075,;FAM13B,upstream_gene_variant,,ENST00000513640,;FAM13B,downstream_gene_variant,,ENST00000505281,;	2394	135	163	SUCCESS
ARSI	340075	.	GRCh37	5	149681722	149681722	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	47	0	ENST00000328668.7:c.215C>A	p.Pro72His	p.P72H	ENST00000328668	NM_001012301.2	72	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS34275.1	215	RADIA|VARSCANS	.	GCGTAGGGGTC	NONE	.	.	hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000333395	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000328668	Transcript	1	.	ENSG00000183876	32521	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ARSI_HUMAN	ARSI	HGNC	D6RDH0_HUMAN	.	UPI000003FD83	SNV	ARSI,missense_variant,p.Pro72His,ENST00000328668,;ARSI,intron_variant,,ENST00000509146,;ARSI,intron_variant,,ENST00000515301,;	795	47	36	SUCCESS
BTNL3	10917	.	GRCh37	5	180432823	180432823	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs763156873	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	26	87	0	ENST00000342868.6:c.1352A>C	p.Asp451Ala	p.D451A	ENST00000342868	NM_197975.2	451	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS47358.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGACGAGG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000341787	.	8/8	.	.	.	.	.	.	.	.	rs763156873	8/8	PASS	ENST00000342868	Transcript	.	.	ENSG00000168903	1143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0.03)	.	BTNL3_HUMAN	BTNL3	HGNC	.	.	UPI00001D69EF	SNV	BTNL3,missense_variant,p.Asp451Ala,ENST00000342868,;RNU6-1036P,upstream_gene_variant,,ENST00000383959,;	1536	87	112	SUCCESS
EGFLAM	133584	.	GRCh37	5	38407124	38407124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	81	0	ENST00000354891.3:c.1023G>T	p.Arg341Ser	p.R341S	ENST00000354891	NM_001205301.1	341	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS56363.1	1023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGCTCTT	NONE	.	.	hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574	.	.	ENSP00000346964	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.04)	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Arg107Ser,ENST00000336740,;EGFLAM,missense_variant,p.Arg341Ser,ENST00000354891,;EGFLAM,missense_variant,p.Arg341Ser,ENST00000322350,;EGFLAM,intron_variant,,ENST00000397202,;EGFLAM-AS2,upstream_gene_variant,,ENST00000512603,;EGFLAM-AS2,upstream_gene_variant,,ENST00000514377,;	1369	81	101	SUCCESS
ITGA1	3672	.	GRCh37	5	52233253	52233253	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	67	133	0	ENST00000282588.6:c.2987C>T	p.Pro996Leu	p.P996L	ENST00000282588	NM_181501.1	996	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3955.1	2987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCAATGC	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179	.	.	ENSP00000282588	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000282588	Transcript	.	.	ENSG00000213949	6134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.631)	.	tolerated(0.06)	.	ITA1_HUMAN	ITGA1	HGNC	.	.	UPI00001A95E8	SNV	ITGA1,missense_variant,p.Pro996Leu,ENST00000282588,;CTD-2175A23.1,intron_variant,,ENST00000505701,;CTD-2175A23.1,intron_variant,,ENST00000503559,;ITGA1,non_coding_transcript_exon_variant,,ENST00000506275,;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	3445	133	181	SUCCESS
MAN1A1	4121	.	GRCh37	6	119511012	119511012	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754857944	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	66	0	ENST00000368468.3:c.1363G>A	p.Gly455Arg	p.G455R	ENST00000368468	NM_005907.3	455	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5122.1	1363	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGTCCGCTGC	NONE	byFrequency	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF31,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000357453	.	10/13	.	.	.	.	.	.	.	.	rs754857944,COSM1072704	10/13	PASS	ENST00000368468	Transcript	.	.	ENSG00000111885	6821	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	MA1A1_HUMAN	MAN1A1	HGNC	.	.	UPI000013D632	SNV	MAN1A1,missense_variant,p.Gly455Arg,ENST00000368468,;	1805	66	43	SUCCESS
C6orf211	0	.	GRCh37	6	151790078	151790078	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	79	0	ENST00000367294.3:c.1159C>G	p.Gln387Glu	p.Q387E	ENST00000367294	NM_024573.1	387	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS5233.1	1159	RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCAGGCT	NONE	.	.	hmmpanther:PTHR12260,hmmpanther:PTHR12260:SF1,Pfam_domain:PF01937,Superfamily_domains:SSF111321	.	.	ENSP00000356263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367294	Transcript	.	.	ENSG00000146476	17872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.42)	.	CF211_HUMAN	C6orf211	HGNC	F5GZY1_HUMAN	.	UPI00000708C7	SNV	C6orf211,missense_variant,p.Gln268Glu,ENST00000545879,;C6orf211,missense_variant,p.Gln387Glu,ENST00000367294,;C6orf211,downstream_gene_variant,,ENST00000483931,;C6orf211,downstream_gene_variant,,ENST00000494826,;	1418	79	64	SUCCESS
T	0	.	GRCh37	6	166572014	166572014	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	31	0	ENST00000296946.2:c.1097C>T	p.Ala366Val	p.A366V	ENST00000296946	NM_003181.3	366	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5290.1	1097	RADIA|VARSCANS	.	ACACGGCTGCT	NONE	.	.	hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267	.	.	ENSP00000296946	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.038)	.	tolerated(0.09)	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,missense_variant,p.Ala367Val,ENST00000366876,;T,missense_variant,p.Ala308Val,ENST00000366871,;T,missense_variant,p.Ala366Val,ENST00000296946,;	1566	31	15	SUCCESS
PGBD1	84547	.	GRCh37	6	28268801	28268801	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs143874020	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	41	0	ENST00000259883.3:c.1170G>C	p.Trp390Cys	p.W390C	ENST00000259883		390	tgG/tgC	0	C:0.0002	.	.	.	.	C	W/C	protein_coding	YES	CCDS4648.1	1170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGACCAA	NONE	byCluster	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9	.	C:0	ENSP00000385213	.	7/7	.	.	.	.	.	.	.	.	rs143874020	7/7	PASS	ENST00000405948	Transcript	.	.	ENSG00000137338	19398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PGBD1_HUMAN	PGBD1	HGNC	.	.	UPI000006ED63	SNV	PGBD1,missense_variant,p.Trp390Cys,ENST00000405948,;PGBD1,missense_variant,p.Trp390Cys,ENST00000259883,;	1590	41	56	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31084328	31084328	+	intron_variant	Intron	SNP	G	G	T	rs754474060	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	24	0	ENST00000259881.9:c.-229+1660G>T		p.*77*	ENST00000259881	NM_014068.2	355		0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS34389.1	1064	RADIA|VARSCANS	.	TGATGGGGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23207:SF1,hmmpanther:PTHR23207	.	.	ENSP00000365465	.	2/2	.	.	.	.	.	.	.	.	rs754474060	2/2	oxog	ENST00000376288	Transcript	.	.	ENSG00000204539	1802	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	CDSN	HGNC	Q7Z560_HUMAN,G8JLG2_HUMAN	.	UPI00001AFE92	SNV	CDSN,missense_variant,p.Pro355His,ENST00000376288,;PSORS1C1,intron_variant,,ENST00000259881,;C6orf15,upstream_gene_variant,,ENST00000259870,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000467107,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,intron_variant,,ENST00000493289,;PSORS1C1,intron_variant,,ENST00000548049,;PSORS1C1,intron_variant,,ENST00000552747,;PSORS1C1,intron_variant,,ENST00000550838,;	1091	24	35	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31084904	31084904	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	17	0	ENST00000259881.9:c.-229+2236A>G		p.*77*	ENST00000259881	NM_014068.2	163		0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS34389.1	488	RADIA|VARSCANS	.	TGCTGAACTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23207:SF1,hmmpanther:PTHR23207	.	.	ENSP00000365465	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376288	Transcript	.	.	ENSG00000204539	1802	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(1)	.	.	CDSN	HGNC	Q7Z560_HUMAN,G8JLG2_HUMAN	.	UPI00001AFE92	SNV	CDSN,missense_variant,p.Phe163Ser,ENST00000376288,;PSORS1C1,intron_variant,,ENST00000259881,;C6orf15,upstream_gene_variant,,ENST00000259870,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000467107,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000493289,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,intron_variant,,ENST00000548049,;PSORS1C1,intron_variant,,ENST00000552747,;PSORS1C1,intron_variant,,ENST00000550838,;	515	17	30	SUCCESS
TMEM63B	55362	.	GRCh37	6	44108792	44108792	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	37	0	ENST00000259746.9:c.739A>G	p.Ile247Val	p.I247V	ENST00000259746		247	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34461.1	739	RADIA|VARSCANS	.	ATGGAATCTCC	NONE	.	.	Gene3D:3.30.70.330,hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018	.	.	ENSP00000259746	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000259746	Transcript	.	.	ENSG00000137216	17735	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.194)	.	tolerated(0.59)	.	TM63B_HUMAN	TMEM63B	HGNC	E9PNG1_HUMAN	.	UPI000020DDEE	SNV	TMEM63B,missense_variant,p.Ile176Val,ENST00000371893,;TMEM63B,missense_variant,p.Ile247Val,ENST00000323267,;TMEM63B,missense_variant,p.Ile247Val,ENST00000259746,;TMEM63B,downstream_gene_variant,,ENST00000532634,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000527188,;TMEM63B,missense_variant,p.Ile63Val,ENST00000533121,;TMEM63B,3_prime_UTR_variant,,ENST00000497371,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000525873,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000534326,;TMEM63B,downstream_gene_variant,,ENST00000525294,;	922	37	29	SUCCESS
GPR63	81491	.	GRCh37	6	97247241	97247241	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	43	0	ENST00000229955.3:c.367C>A	p.Leu123Ile	p.L123I	ENST00000229955	NM_030784.3	123	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS5036.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTAGGCTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious(0.01)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Leu123Ile,ENST00000417980,;GPR63,missense_variant,p.Leu123Ile,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	713	43	49	SUCCESS
THSD7A	221981	.	GRCh37	7	11485864	11485864	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	47	101	0	ENST00000423059.4:c.2888C>A	p.Ala963Glu	p.A963E	ENST00000423059	NM_015204.2	963	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS47543.1	2888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTGCATTA	NONE	.	.	hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8	.	.	ENSP00000406482	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	deleterious(0)	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,missense_variant,p.Ala963Glu,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;THSD7A,downstream_gene_variant,,ENST00000497575,;	3140	101	123	SUCCESS
CCDC136	64753	.	GRCh37	7	128449544	128449544	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	49	217	0	ENST00000297788.4:c.1646A>T	p.Lys549Met	p.K549M	ENST00000297788	NM_022742.4	549	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS47704.1	1646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAAGTACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	tolerated(0.12)	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,missense_variant,p.Lys549Met,ENST00000297788,;CCDC136,missense_variant,p.Lys426Met,ENST00000494552,;CCDC136,missense_variant,p.Lys140Met,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,non_coding_transcript_exon_variant,,ENST00000460941,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000485832,;	2013	217	184	SUCCESS
TMEM196	256130	.	GRCh37	7	19763935	19763935	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	36	0	ENST00000405764.3:c.459+1202G>T		p.*153*	ENST00000405764	NM_152774.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34607.2	.	RADIA|VARSCANS	.	ACCACCGGGCA	NONE	.	.	.	.	.	ENSP00000384234	.	.	.	.	.	.	.	.	.	.	.	.	oxog	ENST00000405764	Transcript	.	.	ENSG00000173452	22431	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM196_HUMAN	TMEM196	HGNC	.	.	UPI00005A9078	SNV	TMEM196,synonymous_variant,p.%3D,ENST00000422233,;TMEM196,synonymous_variant,p.%3D,ENST00000405844,;TMEM196,3_prime_UTR_variant,,ENST00000433641,;TMEM196,intron_variant,,ENST00000493519,;TMEM196,intron_variant,,ENST00000405764,;AC004543.1,downstream_gene_variant,,ENST00000408649,;	.	36	43	SUCCESS
TAX1BP1	8887	.	GRCh37	7	27831697	27831697	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	7	71	0	ENST00000396319.2:c.1111G>A	p.Val371Ile	p.V371I	ENST00000396319	NM_006024.6	371	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS5415.1	1111	MUTECT|VARSCANS	.	AAGTTGTCTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF4	.	.	ENSP00000379612	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000396319	Transcript	.	.	ENSG00000106052	11575	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.4)	.	TAXB1_HUMAN	TAX1BP1	HGNC	C9JBZ7_HUMAN,C9J7J4_HUMAN,A4D196_HUMAN	.	UPI00000723AD	SNV	TAX1BP1,missense_variant,p.Val371Ile,ENST00000396319,;TAX1BP1,missense_variant,p.Val214Ile,ENST00000433216,;TAX1BP1,missense_variant,p.Val371Ile,ENST00000265393,;TAX1BP1,missense_variant,p.Val371Ile,ENST00000543117,;TAX1BP1,missense_variant,p.Val371Ile,ENST00000409980,;TAX1BP1,upstream_gene_variant,,ENST00000457186,;TAX1BP1,3_prime_UTR_variant,,ENST00000416801,;	1199	71	95	SUCCESS
CDK14	5218	.	GRCh37	7	90741982	90741982	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	32	0	ENST00000380050.3:c.1280G>T	p.Trp427Leu	p.W427L	ENST00000380050	NM_001287137.1	427	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS5619.1	1226	RADIA|VARSCANS	.	GCTATGGGAAC	NONE	.	.	hmmpanther:PTHR24056:SF154,hmmpanther:PTHR24056	.	.	ENSP00000265741	.	12/14	.	.	.	.	.	.	.	.	.	12/14	oxog	ENST00000265741	Transcript	.	.	ENSG00000058091	8883	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.26)	.	CDK14_HUMAN	CDK14	HGNC	C9JWL6_HUMAN,C9IYJ9_HUMAN	.	UPI0000161B93	SNV	CDK14,missense_variant,p.Trp298Leu,ENST00000436577,;CDK14,missense_variant,p.Trp381Leu,ENST00000406263,;CDK14,missense_variant,p.Trp409Leu,ENST00000265741,;CDK14,missense_variant,p.Trp427Leu,ENST00000380050,;PTP4A1P3,downstream_gene_variant,,ENST00000433661,;	1370	32	34	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110468518	110468518	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs190452270	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	57	0	ENST00000378402.5:c.6902G>A	p.Arg2301His	p.R2301H	ENST00000378402	NM_177531.4	2301	cGc/cAc	0	A:0	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS47911.1	6902	RADIA|MUTECT|VARSCANS	.	GACTCGCTTGG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51484,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF10162	A:0.005	A:0.0001	ENSP00000367655	A:0	46/78	.	.	.	.	.	.	.	.	rs190452270	46/78	common_in_exac	ENST00000378402	Transcript	.	A:0.0014	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	A:0.002	tolerated(0.53)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Arg2301His,ENST00000378402,;	7006	57	69	SUCCESS
LY6H	4062	.	GRCh37	8	144239671	144239671	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	31	0	ENST00000430474.2:c.419C>A	p.Pro140His	p.P140H	ENST00000430474	NM_002347.4	140	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47926.1	482	MUTECT|MUSE|VARSCANS	.	ATCAGGGCCCA	NONE	.	.	hmmpanther:PTHR32217,hmmpanther:PTHR32217:SF4	.	.	ENSP00000399485	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000414417	Transcript	.	.	ENSG00000176956	6728	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	LY6H_HUMAN	LY6H	HGNC	.	.	UPI00005A7901	SNV	LY6H,missense_variant,p.Pro140His,ENST00000430474,;LY6H,missense_variant,p.Pro161His,ENST00000414417,;LY6H,missense_variant,p.Pro161His,ENST00000342752,;LY6H,non_coding_transcript_exon_variant,,ENST00000479685,;	716	31	19	SUCCESS
MTMR7	9108	.	GRCh37	8	17198903	17198903	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1265697953	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	39	0	ENST00000180173.5:c.701A>G	p.Asp234Gly	p.D234G	ENST00000180173	NM_004686.4	234	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34851.1	701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGTCACTT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000180173	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000180173	Transcript	.	.	ENSG00000003987	7454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.19)	.	MTMR7_HUMAN	MTMR7	HGNC	I0EZ69_HUMAN,B4E1E5_HUMAN,B4E1B6_HUMAN	.	UPI00004DFD27	SNV	MTMR7,missense_variant,p.Asp234Gly,ENST00000521857,;MTMR7,missense_variant,p.Asp234Gly,ENST00000180173,;MTMR7,non_coding_transcript_exon_variant,,ENST00000523571,;MTMR7,non_coding_transcript_exon_variant,,ENST00000518272,;MTMR7,non_coding_transcript_exon_variant,,ENST00000519122,;MTMR7,3_prime_UTR_variant,,ENST00000517317,;	736	39	29	SUCCESS
FAM160B2	0	.	GRCh37	8	21959694	21959694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	41	0	ENST00000289921.7:c.1860C>A	p.Ser620Arg	p.S620R	ENST00000289921	NM_022749.5	620	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS6021.2	1860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCCTGAA	NONE	.	.	hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF7	.	.	ENSP00000289921	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000289921	Transcript	.	.	ENSG00000158863	16492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0.04)	.	F16B2_HUMAN	FAM160B2	HGNC	.	.	UPI00006C5119	SNV	FAM160B2,missense_variant,p.Ser620Arg,ENST00000289921,;NUDT18,downstream_gene_variant,,ENST00000309188,;NUDT18,downstream_gene_variant,,ENST00000521807,;NUDT18,downstream_gene_variant,,ENST00000522405,;FAM160B2,missense_variant,p.Ser620Arg,ENST00000450006,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000496599,;FAM160B2,upstream_gene_variant,,ENST00000523633,;FAM160B2,downstream_gene_variant,,ENST00000491733,;FAM160B2,downstream_gene_variant,,ENST00000427751,;FAM160B2,downstream_gene_variant,,ENST00000464226,;FAM160B2,downstream_gene_variant,,ENST00000477614,;FAM160B2,downstream_gene_variant,,ENST00000474579,;FAM160B2,downstream_gene_variant,,ENST00000462914,;AC091171.1,upstream_gene_variant,,ENST00000436711,;	1906	41	25	SUCCESS
RNF20	56254	.	GRCh37	9	104315030	104315030	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	50	162	0	ENST00000389120.3:c.1896A>T	p.Glu632Asp	p.E632D	ENST00000389120	NM_019592.6	632	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS35084.1	1896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAACTCAA	NONE	.	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000373772	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.09)	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,missense_variant,p.Glu632Asp,ENST00000389120,;AL591377.1,upstream_gene_variant,,ENST00000584534,;	1986	162	202	SUCCESS
CDK5RAP2	55755	.	GRCh37	9	123308036	123308036	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	29	0	ENST00000349780.4:c.339G>T	p.Leu113=	p.L113=	ENST00000349780	NM_018249.5	113	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6823.1	339	RADIA|VARSCANS	.	CGCTTCAGACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13,Pfam_domain:PF07989	.	.	ENSP00000343818	.	5/38	.	.	.	.	.	.	.	.	.	5/38	oxog	ENST00000349780	Transcript	.	.	ENSG00000136861	18672	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK5P2_HUMAN	CDK5RAP2	HGNC	F8WBJ0_HUMAN,C9K0C9_HUMAN	.	UPI0000367673	SNV	CDK5RAP2,synonymous_variant,p.%3D,ENST00000349780,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360190,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000360822,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000359309,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000480112,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000473282,;CDK5RAP2,synonymous_variant,p.%3D,ENST00000481266,;	519	29	39	SUCCESS
NOL6	65083	.	GRCh37	9	33468750	33468750	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	27	0	ENST00000297990.4:c.1147G>T	p.Ala383Ser	p.A383S	ENST00000297990	NM_022917.4	383	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6543.1	1147	RADIA|VARSCANS	.	CTCACCCAGAA	NONE	.	.	Pfam_domain:PF03813,hmmpanther:PTHR17972	.	.	ENSP00000297990	.	8/26	.	.	.	.	.	.	.	.	.	8/26	oxog	ENST00000297990	Transcript	.	.	ENSG00000165271	19910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.708)	.	tolerated(0.05)	.	NOL6_HUMAN	NOL6	HGNC	.	.	UPI0000050326	SNV	NOL6,missense_variant,p.Ala383Ser,ENST00000297990,;NOL6,missense_variant,p.Ala383Ser,ENST00000379471,;NOL6,missense_variant,p.Ala383Ser,ENST00000353159,;NOL6,missense_variant,p.Ala323Ser,ENST00000455041,;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	1235	27	33	SUCCESS
KIAA1432	0	.	GRCh37	9	5742973	5742973	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	101	233	0	ENST00000414202.2:c.1006T>G	p.Phe336Val	p.F336V	ENST00000414202	NM_001206557.1	336	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS34982.2	1006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTTTTGGA	NONE	.	.	hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000416696	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000414202	Transcript	.	.	ENSG00000107036	17686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	RIC1_HUMAN	KIAA1432	HGNC	.	.	UPI00002110DE	SNV	KIAA1432,missense_variant,p.Phe257Val,ENST00000449720,;KIAA1432,missense_variant,p.Phe265Val,ENST00000545641,;KIAA1432,missense_variant,p.Phe257Val,ENST00000418622,;KIAA1432,missense_variant,p.Phe336Val,ENST00000251879,;KIAA1432,missense_variant,p.Phe257Val,ENST00000381532,;KIAA1432,missense_variant,p.Phe336Val,ENST00000414202,;KIAA1432,non_coding_transcript_exon_variant,,ENST00000276898,;	1197	233	290	SUCCESS
KDM4C	23081	.	GRCh37	9	6793123	6793123	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	35	0	ENST00000381309.3:c.135T>C	p.Gly45=	p.G45=	ENST00000381309	NM_015061.3	45	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS6471.1	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCTTGC	NONE	.	.	PROSITE_profiles:PS51183,hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694,Pfam_domain:PF02375,SMART_domains:SM00545	.	.	ENSP00000370710	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,synonymous_variant,p.%3D,ENST00000381306,;KDM4C,synonymous_variant,p.%3D,ENST00000381309,;KDM4C,synonymous_variant,p.%3D,ENST00000401787,;KDM4C,synonymous_variant,p.%3D,ENST00000535193,;KDM4C,synonymous_variant,p.%3D,ENST00000543771,;KDM4C,5_prime_UTR_variant,,ENST00000536108,;KDM4C,5_prime_UTR_variant,,ENST00000442236,;KDM4C,non_coding_transcript_exon_variant,,ENST00000489243,;KDM4C,synonymous_variant,p.%3D,ENST00000438023,;	700	35	69	SUCCESS
PRUNE2	158471	.	GRCh37	9	79325022	79325022	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	100	0	ENST00000376718.3:c.2168C>A	p.Pro723His	p.P723H	ENST00000376718	NM_015225.2	723	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47982.1	2168	MUTECT|VARSCANS	.	GTTCAGGCTGA	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.035)	.	tolerated(0.15)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Pro45His,ENST00000426088,;PRUNE2,missense_variant,p.Pro723His,ENST00000376718,;PRUNE2,missense_variant,p.Pro364His,ENST00000428286,;	2292	100	94	SUCCESS
GLUD2	2747	.	GRCh37	X	120182439	120182439	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	255	89	277	0	ENST00000328078.1:c.901G>A	p.Asp301Asn	p.D301N	ENST00000328078	NM_012084.3	301	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS14603.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAGATAAA	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.50.720,Pfam_domain:PF00208,SMART_domains:SM00839,Superfamily_domains:SSF51735	.	.	ENSP00000327589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328078	Transcript	.	.	ENSG00000182890	4336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.19)	.	DHE4_HUMAN	GLUD2	HGNC	Q9BSD0_HUMAN	.	UPI0000129301	SNV	GLUD2,missense_variant,p.Asp301Asn,ENST00000328078,;	978	277	345	SUCCESS
TLR8	51311	.	GRCh37	X	12937428	12937428	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	48	105	0	ENST00000218032.6:c.269C>G	p.Thr90Ser	p.T90S	ENST00000218032	NM_138636.4	90	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS14152.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCACTAAAA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	deleterious(0.02)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Thr108Ser,ENST00000311912,;TLR8,missense_variant,p.Thr90Ser,ENST00000218032,;	356	105	138	SUCCESS
RBM20	282996	.	GRCh37	10	112572161	112572161	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	19	0	ENST00000369519.3:c.2006G>A	p.Trp669Ter	p.W669*	ENST00000369519	NM_001134363.1	669	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS44477.1	2006	RADIA|MUTECT|VARSCANS	.	TGACTGGGGCA	NONE	.	.	hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF2	.	.	ENSP00000358532	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000369519	Transcript	1	.	ENSG00000203867	27424	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBM20_HUMAN	RBM20	HGNC	.	.	UPI00016624E1	SNV	RBM20,stop_gained,p.Trp669Ter,ENST00000369519,;	2064	19	18	SUCCESS
PTPRE	5791	.	GRCh37	10	129871633	129871633	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	76	0	ENST00000254667.3:c.1497C>A	p.Thr499=	p.T499=	ENST00000254667	NM_006504.4	499	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS7657.1	1497	MUTECT|VARSCANS	.	GCCACCCAGGG	NONE	.	.	PROSITE_profiles:PS50055,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000254667	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000254667	Transcript	.	.	ENSG00000132334	9669	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRE_HUMAN	PTPRE	HGNC	Q96P81_HUMAN,Q69YS2_HUMAN,Q5VWH6_HUMAN,Q5VWH5_HUMAN	.	UPI0000132991	SNV	PTPRE,synonymous_variant,p.%3D,ENST00000419012,;PTPRE,synonymous_variant,p.%3D,ENST00000306042,;PTPRE,synonymous_variant,p.%3D,ENST00000254667,;PTPRE,3_prime_UTR_variant,,ENST00000479896,;PTPRE,downstream_gene_variant,,ENST00000463727,;PTPRE,downstream_gene_variant,,ENST00000492479,;PTPRE,downstream_gene_variant,,ENST00000495530,;	1776	76	60	SUCCESS
DPYSL4	10570	.	GRCh37	10	134018356	134018356	+	synonymous_variant	Silent	SNP	T	T	C	rs368616410	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	82	0	ENST00000338492.4:c.1641T>C	p.Asp547=	p.D547=	ENST00000338492	NM_006426.2	547	gaT/gaC	0	C:0.0002	.	.	.	.	C	D	protein_coding	YES	CCDS7665.1	1641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGATGACCA	NONE	byCluster	.	.	.	C:0	ENSP00000339850	.	14/14	.	.	.	.	.	.	.	.	rs368616410	14/14	PASS	ENST00000338492	Transcript	.	.	ENSG00000151640	3016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPYL4_HUMAN	DPYSL4	HGNC	D3DRG7_HUMAN	.	UPI000013DC70	SNV	DPYSL4,synonymous_variant,p.%3D,ENST00000368627,;DPYSL4,synonymous_variant,p.%3D,ENST00000338492,;DPYSL4,synonymous_variant,p.%3D,ENST00000368629,;STK32C,downstream_gene_variant,,ENST00000368622,;STK32C,downstream_gene_variant,,ENST00000368625,;STK32C,downstream_gene_variant,,ENST00000298630,;DPYSL4,non_coding_transcript_exon_variant,,ENST00000471544,;STK32C,downstream_gene_variant,,ENST00000462160,;	1805	82	61	SUCCESS
ZNF248	57209	.	GRCh37	10	38121994	38121994	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	39	0	ENST00000357328.4:c.289G>C	p.Asp97His	p.D97H	ENST00000357328	NM_001267597.1	97	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS7194.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATCTTCAT	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68	.	.	ENSP00000379208	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395867	Transcript	.	.	ENSG00000198105	13041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.819)	.	deleterious(0.01)	.	ZN248_HUMAN	ZNF248	HGNC	Q9UMP4_HUMAN,B4DF82_HUMAN,B1AL42_HUMAN,B1AL40_HUMAN,A2RUI7_HUMAN	.	UPI000006CF12	SNV	ZNF248,missense_variant,p.Asp97His,ENST00000374648,;ZNF248,missense_variant,p.Asp97His,ENST00000357328,;ZNF248,missense_variant,p.Asp97His,ENST00000395873,;ZNF248,missense_variant,p.Asp97His,ENST00000395867,;ZNF248,downstream_gene_variant,,ENST00000395874,;AL135791.1,downstream_gene_variant,,ENST00000583461,;ZNF248,non_coding_transcript_exon_variant,,ENST00000494133,;ZNF248,missense_variant,p.Asp97His,ENST00000485560,;	840	39	71	SUCCESS
CCDC6	8030	.	GRCh37	10	61554242	61554242	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	32	0	ENST00000263102.6:c.1219C>A	p.His407Asn	p.H407N	ENST00000263102	NM_005436.4	407	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS7257.1	1219	RADIA|VARSCANS	.	ACCATGGGATG	NONE	.	.	hmmpanther:PTHR15276:SF0,hmmpanther:PTHR15276	.	.	ENSP00000263102	.	8/9	.	.	.	.	.	.	.	.	.	8/9	oxog	ENST00000263102	Transcript	1	.	ENSG00000108091	18782	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.04)	.	CCDC6_HUMAN	CCDC6	HGNC	.	.	UPI000035B25A	SNV	CCDC6,missense_variant,p.His407Asn,ENST00000263102,;CCDC6,non_coding_transcript_exon_variant,,ENST00000491922,;	1451	32	37	SUCCESS
USH1C	10083	.	GRCh37	11	17530990	17530990	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	83	0	ENST00000318024.4:c.1285-7463T>C		p.*429*	ENST00000318024	NM_005709.3	642		0	.	.	.	.	.	G	N	protein_coding	YES	CCDS7825.1	1926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGATTGCC	NONE	.	.	hmmpanther:PTHR23116:SF32,hmmpanther:PTHR23116	.	.	ENSP00000005226	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000005226	Transcript	.	.	ENSG00000006611	12597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH1C_HUMAN	USH1C	HGNC	.	.	UPI00001D965A	SNV	USH1C,synonymous_variant,p.%3D,ENST00000005226,;USH1C,intron_variant,,ENST00000527720,;USH1C,intron_variant,,ENST00000318024,;USH1C,intron_variant,,ENST00000527020,;USH1C,intron_variant,,ENST00000529563,;USH1C,downstream_gene_variant,,ENST00000530700,;USH1C,intron_variant,,ENST00000526313,;	1926	83	79	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33682506	33682506	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	27	0	ENST00000321505.4:c.5214G>A	p.Gln1738=	p.Q1738=	ENST00000321505		1738	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS44565.2	5214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAGGCCTG	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,synonymous_variant,p.%3D,ENST00000321505,;KIAA1549L,synonymous_variant,p.%3D,ENST00000389726,;RP4-541C22.5,downstream_gene_variant,,ENST00000534431,;	5394	27	28	SUCCESS
TRAF6	7189	.	GRCh37	11	36516546	36516546	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	209	107	174	0	ENST00000348124.5:c.658A>G	p.Thr220Ala	p.T220A	ENST00000348124	NM_145803.2	220	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7901.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGTATTGC	NONE	.	.	PROSITE_profiles:PS50145,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF52,Pfam_domain:PF02176,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF49599	.	.	ENSP00000433623	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000526995	Transcript	.	.	ENSG00000175104	12036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.47)	.	TRAF6_HUMAN	TRAF6	HGNC	.	.	UPI000000D924	SNV	TRAF6,missense_variant,p.Thr220Ala,ENST00000348124,;TRAF6,missense_variant,p.Thr220Ala,ENST00000526995,;TRAF6,non_coding_transcript_exon_variant,,ENST00000529150,;	905	174	316	SUCCESS
GYLTL1B	0	.	GRCh37	11	45948313	45948313	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs974538917	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	28	0	ENST00000325468.5:c.1216C>T	p.Arg406Trp	p.R406W	ENST00000325468		406	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS31473.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCGGCAG	NONE	.	.	hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270	.	.	ENSP00000432869	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000531526	Transcript	.	.	ENSG00000165905	16522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	LARG2_HUMAN	GYLTL1B	HGNC	.	.	UPI000004B639	SNV	GYLTL1B,missense_variant,p.Arg406Trp,ENST00000325468,;GYLTL1B,missense_variant,p.Arg406Trp,ENST00000531526,;GYLTL1B,missense_variant,p.Arg67Trp,ENST00000534410,;GYLTL1B,missense_variant,p.Arg375Trp,ENST00000536139,;GYLTL1B,missense_variant,p.Arg375Trp,ENST00000529052,;GYLTL1B,missense_variant,p.Arg406Trp,ENST00000401752,;GYLTL1B,missense_variant,p.Arg133Trp,ENST00000389968,;GYLTL1B,upstream_gene_variant,,ENST00000531847,;PHF21A,downstream_gene_variant,,ENST00000257821,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000528236,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000414027,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000530437,;GYLTL1B,downstream_gene_variant,,ENST00000525609,;PHF21A,downstream_gene_variant,,ENST00000527401,;	1327	28	25	SUCCESS
OR4C3	256144	.	GRCh37	11	48347263	48347263	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	19	168	0	ENST00000319856.4:c.771G>A	p.Gly257=	p.G257=	ENST00000319856	NM_001004702.1	257	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31489.1	771	RADIA|MUTECT|MUSE	.	GATGGGAGATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000321419	.	1/1	.	.	.	.	.	.	.	.	COSM1982521	1/1	PASS	ENST00000319856	Transcript	.	.	ENSG00000176547	14697	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	OR4C3_HUMAN	OR4C3	HGNC	.	.	UPI0000061EA2	SNV	OR4C3,synonymous_variant,p.%3D,ENST00000319856,;	792	168	182	SUCCESS
OR5I1	10798	.	GRCh37	11	55703216	55703216	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	43	1	ENST00000301532.3:c.661T>C	p.Phe221Leu	p.F221L	ENST00000301532	NM_006637.1	221	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS7949.1	661	SOMATICSNIPER|VARSCANS	.	GAAAAAGTAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000301532	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301532	Transcript	.	.	ENSG00000167825	8347	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.089)	.	tolerated(1)	.	OR5I1_HUMAN	OR5I1	HGNC	.	.	UPI00000405D5	SNV	OR5I1,missense_variant,p.Phe221Leu,ENST00000301532,;	661	44	48	SUCCESS
BTBD18	643376	.	GRCh37	11	57512438	57512438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	21	66	0	ENST00000422652.1:c.1307C>A	p.Ser436Tyr	p.S436Y	ENST00000422652	NM_001145101.1	436	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS44603.1	1307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAGTGG	NONE	.	.	.	.	.	ENSP00000394472	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422652	Transcript	.	.	ENSG00000233436	37214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	BTBDI_HUMAN	BTBD18	HGNC	E9PRF5_HUMAN	.	UPI00006C113A	SNV	BTBD18,missense_variant,p.Ser436Tyr,ENST00000436147,;BTBD18,missense_variant,p.Ser436Tyr,ENST00000422652,;C11orf31,downstream_gene_variant,,ENST00000534355,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;C11orf31,downstream_gene_variant,,ENST00000528798,;C11orf31,downstream_gene_variant,,ENST00000388857,;TMX2,downstream_gene_variant,,ENST00000278422,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,intron_variant,,ENST00000531074,;C11orf31,downstream_gene_variant,,ENST00000533321,;C11orf31,downstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000528110,;TMX2,downstream_gene_variant,,ENST00000530114,;TMX2,downstream_gene_variant,,ENST00000529403,;	1596	66	46	SUCCESS
MRPL11	65003	.	GRCh37	11	66204833	66204833	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs777367205	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	67	0	ENST00000310999.7:c.301del	p.Ala101ProfsTer12	p.A101Pfs*12	ENST00000310999	NM_016050.3	101	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS8139.1	301	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCGGGCCCCCT	NONE	.	.	Superfamily_domains:SSF46906,SMART_domains:SM00649,Pfam_domain:PF00298,TIGRFAM_domain:TIGR01632,Gene3D:1vq8I00,hmmpanther:PTHR11661,HAMAP:MF_00736	.	.	ENSP00000308897	.	3/5	.	.	.	.	.	.	.	.	rs777367205	3/5	PASS	ENST00000310999	Transcript	.	.	ENSG00000174547	14042	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RM11_HUMAN	MRPL11	HGNC	.	.	UPI0000049CE5	deletion	MRPL11,frameshift_variant,p.Ala101ProfsTer12,ENST00000329819,;MRPL11,frameshift_variant,p.Ala75ProfsTer12,ENST00000430466,;MRPL11,frameshift_variant,p.Ala101ProfsTer12,ENST00000310999,;MRPL11,upstream_gene_variant,,ENST00000528272,;SNORA43,downstream_gene_variant,,ENST00000364863,;MRPL11,non_coding_transcript_exon_variant,,ENST00000524576,;MRPL11,3_prime_UTR_variant,,ENST00000534488,;	395	67	34	SUCCESS
DCHS1	8642	.	GRCh37	11	6644218	6644218	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs757918208	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	28	0	ENST00000299441.3:c.8689G>T	p.Glu2897Ter	p.E2897*	ENST00000299441	NM_003737.2	2897	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS7771.1	8689	RADIA|SOMATICSNIPER	.	CAGCTCCCGTG	NONE	byFrequency	.	SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	rs757918208	21/21	oxog	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,stop_gained,p.Glu2897Ter,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	9101	28	14	SUCCESS
BRAP	8315	.	GRCh37	12	112093435	112093435	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	72	0	ENST00000419234.4:c.1246C>G	p.Leu416Val	p.L416V	ENST00000419234	NM_006768.3	416	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS9154.1	1246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGCTGGC	NONE	.	.	hmmpanther:PTHR24007	.	.	ENSP00000403524	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000419234	Transcript	.	.	ENSG00000089234	1099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.244)	.	deleterious(0)	.	BRAP_HUMAN	BRAP	HGNC	Q59H81_HUMAN,J3KNN7_HUMAN	.	UPI00001AF597	SNV	BRAP,missense_variant,p.Leu237Val,ENST00000539060,;BRAP,missense_variant,p.Leu386Val,ENST00000327551,;BRAP,missense_variant,p.Leu416Val,ENST00000419234,;BRAP,non_coding_transcript_exon_variant,,ENST00000547043,;	1440	72	93	SUCCESS
EP400	57634	.	GRCh37	12	132534878	132534878	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs138179572	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	37	1	ENST00000389561.2:c.7211A>G	p.Asn2404Ser	p.N2404S	ENST00000389561	NM_015409.4	2404	aAc/aGc	0	G:0.0002	.	.	.	.	G	N/S	protein_coding	YES	CCDS31929.2	7211	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAACAACCGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	.	G:0.0001	ENSP00000374212	.	40/53	.	.	.	.	.	.	.	.	rs138179572	40/53	PASS	ENST00000389561	Transcript	.	.	ENSG00000183495	11958	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,missense_variant,p.Asn2403Ser,ENST00000389562,;EP400,missense_variant,p.Asn2367Ser,ENST00000332482,;EP400,missense_variant,p.Asn2404Ser,ENST00000389561,;EP400,missense_variant,p.Asn2440Ser,ENST00000333577,;EP400,missense_variant,p.Asn2323Ser,ENST00000330386,;	7320	38	46	SUCCESS
ZNF10	7556	.	GRCh37	12	133733009	133733009	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	60	0	ENST00000248211.6:c.1177A>G	p.Ile393Val	p.I393V	ENST00000248211	NM_015394.4	393	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9283.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCATTCTG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,PROSITE_profiles:PS50157	.	.	ENSP00000248211	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000248211	Transcript	.	.	ENSG00000256223	12879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.21)	.	ZNF10_HUMAN	ZNF10	HGNC	Q9UG14_HUMAN,F5H6S6_HUMAN,F5H311_HUMAN,F5H0R3_HUMAN,F5GZ75_HUMAN	.	UPI0000073582	SNV	ZNF10,missense_variant,p.Ile393Val,ENST00000426665,;ZNF10,missense_variant,p.Ile259Val,ENST00000402932,;ZNF10,missense_variant,p.Ile393Val,ENST00000248211,;ZNF268,intron_variant,,ENST00000416488,;CTD-2140B24.4,intron_variant,,ENST00000540096,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000537119,;	1399	60	61	SUCCESS
WNT10B	7480	.	GRCh37	12	49359939	49359939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	40	0	ENST00000301061.4:c.1109G>T	p.Trp370Leu	p.W370L	ENST00000301061	NM_003394.3	370	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS8775.1	1109	RADIA|VARSCANS	.	AGCACCAGTGG	NONE	.	.	hmmpanther:PTHR12027:SF76,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000301061	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301061	Transcript	.	.	ENSG00000169884	12775	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	WN10B_HUMAN	WNT10B	HGNC	C9JCI2_HUMAN	.	UPI0000138F21	SNV	WNT10B,missense_variant,p.Trp370Leu,ENST00000301061,;WNT10B,3_prime_UTR_variant,,ENST00000403957,;WNT10B,3_prime_UTR_variant,,ENST00000407467,;WNT10B,downstream_gene_variant,,ENST00000420388,;WNT10B,downstream_gene_variant,,ENST00000413630,;WNT10B,downstream_gene_variant,,ENST00000475740,;	1458	40	37	SUCCESS
SLC25A3	5250	.	GRCh37	12	98991725	98991725	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762366125	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	76	216	1	ENST00000228318.3:c.374C>T	p.Pro125Leu	p.P125L	ENST00000228318	NM_005888.3	125	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS9066.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCGACTT	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF173,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000228318	.	4/8	.	.	.	.	.	.	.	.	rs762366125	4/8	PASS	ENST00000228318	Transcript	.	.	ENSG00000075415	10989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MPCP_HUMAN	SLC25A3	HGNC	Q6MZF9_HUMAN,F8VZL5_HUMAN,F8VWR4_HUMAN	.	UPI000012F45B	SNV	SLC25A3,missense_variant,p.Pro124Leu,ENST00000548847,;SLC25A3,missense_variant,p.Pro124Leu,ENST00000549338,;SLC25A3,missense_variant,p.Pro124Leu,ENST00000401722,;SLC25A3,missense_variant,p.Pro125Leu,ENST00000551917,;SLC25A3,missense_variant,p.Pro125Leu,ENST00000550695,;SLC25A3,missense_variant,p.Pro124Leu,ENST00000188376,;SLC25A3,missense_variant,p.Pro124Leu,ENST00000552981,;SLC25A3,missense_variant,p.Pro125Leu,ENST00000228318,;SLC25A3,missense_variant,p.Pro125Leu,ENST00000548046,;SLC25A3,missense_variant,p.Pro124Leu,ENST00000547534,;SLC25A3,downstream_gene_variant,,ENST00000551265,;SNORA53,upstream_gene_variant,,ENST00000391141,;SLC25A3,3_prime_UTR_variant,,ENST00000551123,;SLC25A3,non_coding_transcript_exon_variant,,ENST00000546766,;SLC25A3,non_coding_transcript_exon_variant,,ENST00000547444,;SLC25A3,non_coding_transcript_exon_variant,,ENST00000547908,;SLC25A3,upstream_gene_variant,,ENST00000547869,;SLC25A3,upstream_gene_variant,,ENST00000548480,;	494	218	210	SUCCESS
POMP	51371	.	GRCh37	13	29242666	29242666	+	synonymous_variant	Silent	SNP	A	A	G	rs560145213	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	62	0	ENST00000380842.4:c.219A>G	p.Leu73=	p.L73=	ENST00000380842	NM_015932.5	73	ctA/ctG	0	.	G:0.0008	.	G:0	.	G	L	protein_coding	YES	CCDS9331.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTATTTGC	NONE	by1000G	.	hmmpanther:PTHR12828:SF3,hmmpanther:PTHR12828,Pfam_domain:PF05348	G:0	.	ENSP00000370222	G:0	4/6	.	.	.	.	.	.	.	.	rs560145213	4/6	PASS	ENST00000380842	Transcript	.	G:0.0002	ENSG00000132963	20330	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	POMP_HUMAN	POMP	HGNC	.	.	UPI000006E3C4	SNV	POMP,synonymous_variant,p.%3D,ENST00000380842,;POMP,non_coding_transcript_exon_variant,,ENST00000460403,;	300	62	69	SUCCESS
NBEA	26960	.	GRCh37	13	35756573	35756573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs986998229	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	56	69	0	ENST00000400445.3:c.4739G>A	p.Arg1580His	p.R1580H	ENST00000400445	NM_015678.4	1580	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS45026.1	4739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCGTGACA	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	.	.	ENSP00000383295	.	29/58	.	.	.	.	.	.	.	.	COSM947022	29/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,missense_variant,p.Arg1580His,ENST00000400445,;NBEA,missense_variant,p.Arg1580His,ENST00000540320,;NBEA,missense_variant,p.Arg1580His,ENST00000310336,;NBEA,missense_variant,p.Arg1577His,ENST00000379939,;SCAND3P1,upstream_gene_variant,,ENST00000439854,;	5273	69	164	SUCCESS
NOVA1	4857	.	GRCh37	14	26917336	26917336	+	synonymous_variant	Silent	SNP	A	A	T	rs1439241916	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	88	209	0	ENST00000539517.2:c.1353T>A	p.Thr451=	p.T451=	ENST00000539517	NM_002515.2	451	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32061.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCAGTCAA	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Pfam_domain:PF00013,Gene3D:3.30.1370.10,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288,PROSITE_profiles:PS50084	.	.	ENSP00000438875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,synonymous_variant,p.%3D,ENST00000539517,;NOVA1,synonymous_variant,p.%3D,ENST00000465357,;NOVA1,synonymous_variant,p.%3D,ENST00000267422,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	1671	209	238	SUCCESS
GPHN	10243	.	GRCh37	14	67382766	67382766	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	63	0	ENST00000315266.5:c.436G>C	p.Gly146Arg	p.G146R	ENST00000315266	NM_001024218.1	146	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS9777.1	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGTAGC	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF00994,Gene3D:3.40.980.10,TIGRFAM_domain:TIGR00177,SMART_domains:SM00852,Superfamily_domains:SSF53218	.	.	ENSP00000417901	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,missense_variant,p.Gly128Arg,ENST00000459628,;GPHN,missense_variant,p.Gly159Arg,ENST00000543237,;GPHN,missense_variant,p.Gly115Arg,ENST00000305960,;GPHN,missense_variant,p.Gly79Arg,ENST00000555456,;GPHN,missense_variant,p.Gly146Arg,ENST00000315266,;GPHN,missense_variant,p.Gly146Arg,ENST00000478722,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,3_prime_UTR_variant,,ENST00000556633,;GPHN,downstream_gene_variant,,ENST00000553936,;	1557	63	64	SUCCESS
SLC10A1	6554	.	GRCh37	14	70252897	70252897	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs745341758	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	63	0	ENST00000216540.4:c.484T>C	p.Ser162Pro	p.S162P	ENST00000216540	NM_003049.3	162	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS9797.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGATATCA	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18	.	.	ENSP00000216540	.	2/5	.	.	.	.	.	.	.	.	rs745341758	2/5	PASS	ENST00000216540	Transcript	.	.	ENSG00000100652	10905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.02)	.	NTCP_HUMAN	SLC10A1	HGNC	Q9UK36_HUMAN	.	UPI0000130576	SNV	SLC10A1,missense_variant,p.Ser162Pro,ENST00000216540,;	618	63	70	SUCCESS
UNC79	57578	.	GRCh37	14	94008823	94008823	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs772470215	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	25	0	ENST00000393151.2:c.1536C>A	p.Cys512Ter	p.C512*	ENST00000393151		512	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS9911.2	1005	RADIA|VARSCANS	.	CTCTGCACACC	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696,Pfam_domain:PF14776	.	.	ENSP00000256339	.	14/50	.	.	.	.	.	.	.	.	rs772470215	14/50	oxog	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,stop_gained,p.Cys512Ter,ENST00000393151,;UNC79,stop_gained,p.Cys335Ter,ENST00000256339,;UNC79,stop_gained,p.Cys512Ter,ENST00000553484,;UNC79,stop_gained,p.Cys512Ter,ENST00000555664,;	1660	25	39	SUCCESS
HERC2	8924	.	GRCh37	15	28465614	28465614	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778156523	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	16	0	ENST00000261609.7:c.5829C>A	p.Asp1943Glu	p.D1943E	ENST00000261609	NM_004667.5	1943	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS10021.1	5829	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TCTGTGTCCGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	37/93	.	.	.	.	.	.	.	.	rs778156523	37/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Asp1943Glu,ENST00000261609,;HERC2,downstream_gene_variant,,ENST00000569335,;	5938	16	16	SUCCESS
SLC12A1	6557	.	GRCh37	15	48595052	48595052	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	58	0	ENST00000380993.3:c.3270T>C	p.Asn1090=	p.N1090=	ENST00000380993	NM_000338.2	1090	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS53940.1	3270	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAATCACAA	NONE	.	.	hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,TIGRFAM_domain:TIGR00930	.	.	ENSP00000379822	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,synonymous_variant,p.%3D,ENST00000558405,;SLC12A1,synonymous_variant,p.%3D,ENST00000396577,;SLC12A1,synonymous_variant,p.%3D,ENST00000380993,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000560692,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000558252,;	3485	58	75	SUCCESS
SECISBP2L	9728	.	GRCh37	15	49338586	49338586	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	32	0	ENST00000559471.1:c.-90C>G		p.*30*	ENST00000559471	NM_001193489.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53942.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AGACTGGGTTC	NONE	.	.	.	.	.	ENSP00000453854	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000559471	Transcript	.	.	ENSG00000138593	28997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SBP2L_HUMAN	SECISBP2L	HGNC	J3KPI1_HUMAN	.	UPI00001C1F8B	SNV	SECISBP2L,5_prime_UTR_variant,,ENST00000261847,;SECISBP2L,5_prime_UTR_variant,,ENST00000559424,;SECISBP2L,5_prime_UTR_variant,,ENST00000559471,;SECISBP2L,5_prime_UTR_variant,,ENST00000380927,;RN7SL577P,upstream_gene_variant,,ENST00000584532,;SECISBP2L,non_coding_transcript_exon_variant,,ENST00000557923,;	175	32	27	SUCCESS
TRPM7	54822	.	GRCh37	15	50878674	50878674	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	21	0	ENST00000313478.7:c.4401T>C	p.Thr1467=	p.T1467=	ENST00000313478	NM_017672.4	1467	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS42035.1	4401	RADIA|VARSCANS	.	TCAGAAGTATT	NONE	.	.	hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	28/39	.	.	.	.	.	.	.	.	.	28/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,synonymous_variant,p.%3D,ENST00000560955,;TRPM7,synonymous_variant,p.%3D,ENST00000313478,;TRPM7,non_coding_transcript_exon_variant,,ENST00000560849,;TRPM7,upstream_gene_variant,,ENST00000558444,;TRPM7,upstream_gene_variant,,ENST00000561443,;	4683	21	36	SUCCESS
TNFAIP8L3	388121	.	GRCh37	15	51397266	51397266	+	synonymous_variant	Silent	SNP	C	C	T	rs267604247	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	33	109	0	ENST00000327536.5:c.108G>A	p.Arg36=	p.R36=	ENST00000327536	NM_207381.2	36	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32241.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GCATCCCTTGT	NONE	.	.	.	.	.	ENSP00000328016	.	1/3	.	.	.	.	.	.	.	.	rs267604247	1/3	PASS	ENST00000327536	Transcript	.	.	ENSG00000183578	20620	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	TP8L3_HUMAN	TNFAIP8L3	HGNC	.	.	UPI00004C7A8B	SNV	TNFAIP8L3,synonymous_variant,p.%3D,ENST00000327536,;RP11-108K3.1,intron_variant,,ENST00000559909,;	208	109	111	SUCCESS
MEGF11	84465	.	GRCh37	15	66209210	66209210	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	39	0	ENST00000409699.2:c.2171C>T	p.Ala724Val	p.A724V	ENST00000409699		724	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10213.2	2171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGCCCCG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF10,hmmpanther:PTHR24035,Gene3D:2gy5A03,SMART_domains:SM00180,SMART_domains:SM00181	.	.	ENSP00000386908	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000409699	Transcript	.	.	ENSG00000157890	29635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	tolerated(0.09)	.	MEG11_HUMAN	MEGF11	HGNC	C9JYE7_HUMAN	.	UPI00001FE6DA	SNV	MEGF11,missense_variant,p.Ala724Val,ENST00000409699,;MEGF11,missense_variant,p.Ala724Val,ENST00000360698,;MEGF11,missense_variant,p.Ala724Val,ENST00000422354,;MEGF11,missense_variant,p.Ala649Val,ENST00000395625,;MEGF11,missense_variant,p.Ala649Val,ENST00000288745,;MEGF11,5_prime_UTR_variant,,ENST00000395614,;MEGF11,upstream_gene_variant,,ENST00000478721,;MEGF11,upstream_gene_variant,,ENST00000489275,;MEGF11,upstream_gene_variant,,ENST00000493192,;MEGF11,downstream_gene_variant,,ENST00000564573,;MEGF11,missense_variant,p.Ala428Val,ENST00000490495,;MEGF11,upstream_gene_variant,,ENST00000478590,;	2344	39	54	SUCCESS
RCN2	5955	.	GRCh37	15	77241537	77241537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	45	0	ENST00000394885.3:c.928G>T	p.Asp310Tyr	p.D310Y	ENST00000394885	NM_002902.2	310	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS10291.1	928	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGACTAT	NONE	.	.	hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF32,Gene3D:1.10.238.10	.	.	ENSP00000378349	.	7/7	.	.	.	.	.	.	.	.	.	7/7	oxog	ENST00000394885	Transcript	.	.	ENSG00000117906	9935	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.305)	.	deleterious(0)	.	RCN2_HUMAN	RCN2	HGNC	.	.	UPI0000000C65	SNV	RCN2,missense_variant,p.Asp328Tyr,ENST00000320963,;RCN2,missense_variant,p.Asp310Tyr,ENST00000394885,;RCN2,missense_variant,p.Asp209Tyr,ENST00000394883,;RCN2,downstream_gene_variant,,ENST00000557805,;RCN2,downstream_gene_variant,,ENST00000558598,;RCN2,downstream_gene_variant,,ENST00000560833,;	1151	45	30	SUCCESS
CDH8	1006	.	GRCh37	16	61859057	61859057	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs376133486	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	40	0	ENST00000577390.1:c.694A>G	p.Met232Val	p.M232V	ENST00000577390	NM_001796.4	232	Atg/Gtg	0	C:0.0002	.	.	.	.	C	M/V	protein_coding	YES	CCDS10802.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCATGTTGG	NONE	byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	C:0	ENSP00000462701	.	5/12	.	.	.	.	.	.	.	.	rs376133486	5/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,missense_variant,p.Met232Val,ENST00000584337,;CDH8,missense_variant,p.Met232Val,ENST00000577390,;CDH8,missense_variant,p.Met232Val,ENST00000577730,;CDH8,missense_variant,p.Met232Val,ENST00000299345,;CDH8,missense_variant,p.Met232Val,ENST00000583382,;CDH8,missense_variant,p.Met232Val,ENST00000585315,;	1649	40	71	SUCCESS
WWP2	11060	.	GRCh37	16	69965734	69965734	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	30	0	ENST00000359154.2:c.1623C>T	p.Arg541=	p.R541=	ENST00000359154	NM_001270454.1	541	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10885.1	1623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGCCGCCG	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF287,SMART_domains:SM00119,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000352069	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000359154	Transcript	.	.	ENSG00000198373	16804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WWP2_HUMAN	WWP2	HGNC	H3BRX8_HUMAN,H3BPJ8_HUMAN,B4DHF6_HUMAN	.	UPI000006CD16	SNV	WWP2,synonymous_variant,p.%3D,ENST00000356003,;WWP2,synonymous_variant,p.%3D,ENST00000448661,;WWP2,synonymous_variant,p.%3D,ENST00000542271,;WWP2,synonymous_variant,p.%3D,ENST00000359154,;WWP2,synonymous_variant,p.%3D,ENST00000568684,;MIR140,upstream_gene_variant,,ENST00000385282,;WWP2,non_coding_transcript_exon_variant,,ENST00000544162,;WWP2,non_coding_transcript_exon_variant,,ENST00000569297,;WWP2,downstream_gene_variant,,ENST00000567579,;WWP2,non_coding_transcript_exon_variant,,ENST00000566463,;WWP2,non_coding_transcript_exon_variant,,ENST00000568818,;WWP2,upstream_gene_variant,,ENST00000567161,;	1724	30	19	SUCCESS
ACSF3	197322	.	GRCh37	16	89167289	89167289	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771946908	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	38	0	ENST00000317447.4:c.200C>T	p.Thr67Met	p.T67M	ENST00000317447	NM_174917.3	67	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS10974.1	200	MUTECT|MUSE	.	CCACACGTACA	NONE	byFrequency	.	hmmpanther:PTHR24095:SF52,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000320646	.	3/11	.	.	.	.	.	.	.	.	rs771946908	3/11	PASS	ENST00000317447	Transcript	.	.	ENSG00000176715	27288	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ACSF3_HUMAN	ACSF3	HGNC	H3BTS0_HUMAN,F5H755_HUMAN,F5H5A1_HUMAN,F5H3B2_HUMAN,F5H362_HUMAN,F5GX20_HUMAN	.	UPI00001AF19E	SNV	ACSF3,missense_variant,p.Thr67Met,ENST00000537290,;ACSF3,missense_variant,p.Thr67Met,ENST00000317447,;ACSF3,missense_variant,p.Thr67Met,ENST00000406948,;ACSF3,intron_variant,,ENST00000540697,;ACSF3,intron_variant,,ENST00000537895,;ACSF3,intron_variant,,ENST00000378345,;ACSF3,upstream_gene_variant,,ENST00000538340,;ACSF3,downstream_gene_variant,,ENST00000541755,;ACSF3,upstream_gene_variant,,ENST00000544543,;ACSF3,upstream_gene_variant,,ENST00000543676,;ACSF3,missense_variant,p.Thr67Met,ENST00000542688,;	577	38	8	SUCCESS
SUPT6H	6830	.	GRCh37	17	27027520	27027520	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	34	0	ENST00000314616.6:c.4796G>A	p.Ser1599Asn	p.S1599N	ENST00000314616	NM_003170.3	1599	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS32596.1	4796	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGTGCTT	NONE	.	.	PIRSF_domain:PIRSF036947,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145,Low_complexity_(Seg):seg	.	.	ENSP00000319104	.	35/37	.	.	.	.	.	.	.	.	.	35/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.632)	.	tolerated(0.18)	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,missense_variant,p.Ser1599Asn,ENST00000314616,;SUPT6H,missense_variant,p.Ser1599Asn,ENST00000347486,;PROCA1,downstream_gene_variant,,ENST00000581289,;PROCA1,downstream_gene_variant,,ENST00000301039,;PROCA1,downstream_gene_variant,,ENST00000439862,;PROCA1,downstream_gene_variant,,ENST00000415329,;PROCA1,downstream_gene_variant,,ENST00000422880,;PROCA1,downstream_gene_variant,,ENST00000584073,;PROCA1,downstream_gene_variant,,ENST00000579650,;PROCA1,downstream_gene_variant,,ENST00000578097,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000583340,;PROCA1,downstream_gene_variant,,ENST00000495203,;SUPT6H,downstream_gene_variant,,ENST00000580471,;PROCA1,downstream_gene_variant,,ENST00000473751,;	5079	34	25	SUCCESS
ITGAE	3682	.	GRCh37	17	3655165	3655165	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1376427812	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	60	0	ENST00000263087.4:c.1672G>T	p.Gly558Cys	p.G558C	ENST00000263087	NM_002208.4	558	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS32531.1	1672	RADIA|VARSCANS	.	AGAACCATCCT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF74,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000263087	.	15/31	.	.	.	.	.	.	.	.	.	15/31	oxog	ENST00000263087	Transcript	.	.	ENSG00000083457	6147	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.126)	.	deleterious(0.01)	.	ITAE_HUMAN	ITGAE	HGNC	.	.	UPI000049DE2D	SNV	ITGAE,missense_variant,p.Gly558Cys,ENST00000263087,;ITGAE,non_coding_transcript_exon_variant,,ENST00000572121,;	1771	60	35	SUCCESS
DDX42	11325	.	GRCh37	17	61890756	61890756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	81	0	ENST00000389924.2:c.1844G>T	p.Arg615Leu	p.R615L	ENST00000389924	NM_203499.2	615	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS32704.1	1844	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCGGAACT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF125,Gene3D:3.40.50.300	.	.	ENSP00000464050	.	16/19	.	.	.	.	.	.	.	.	.	16/19	oxog	ENST00000578681	Transcript	.	.	ENSG00000198231	18676	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	DDX42_HUMAN	DDX42	HGNC	J3QRI2_HUMAN,B3KMI4_HUMAN	.	UPI000017DA3D	SNV	DDX42,missense_variant,p.Arg615Leu,ENST00000389924,;DDX42,missense_variant,p.Arg615Leu,ENST00000578681,;DDX42,missense_variant,p.Arg615Leu,ENST00000583590,;DDX42,missense_variant,p.Arg496Leu,ENST00000359353,;DDX42,missense_variant,p.Arg615Leu,ENST00000457800,;DDX42,upstream_gene_variant,,ENST00000582985,;DDX42,non_coding_transcript_exon_variant,,ENST00000584951,;DDX42,non_coding_transcript_exon_variant,,ENST00000578593,;DDX42,non_coding_transcript_exon_variant,,ENST00000584010,;DDX42,upstream_gene_variant,,ENST00000579539,;DDX42,downstream_gene_variant,,ENST00000581477,;DDX42,downstream_gene_variant,,ENST00000577940,;DDX42,upstream_gene_variant,,ENST00000581767,;	2445	81	78	SUCCESS
GH2	2689	.	GRCh37	17	61957781	61957781	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	250	26	264	0	ENST00000423893.2:c.554A>C	p.Asn185Thr	p.N185T	ENST00000423893		185	aAc/aCc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11648.1	.	MUTECT|MUSE|VARSCANS	.	CGTAGTTCTTG	NONE	.	.	.	.	.	ENSP00000333157	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332800	Transcript	.	.	ENSG00000136487	4262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOM2_HUMAN	GH2	HGNC	.	.	UPI000002B3EF	SNV	GH2,missense_variant,p.Thr184Pro,ENST00000456543,;GH2,missense_variant,p.Asn170Thr,ENST00000449787,;GH2,missense_variant,p.Asn185Thr,ENST00000423893,;GH2,3_prime_UTR_variant,,ENST00000332800,;	941	264	276	SUCCESS
TP53	7157	.	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs786201838	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	32	74	0	ENST00000269305.4:c.578A>G	p.His193Arg	p.H193R	ENST00000269305	NM_001126112.2	193	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS11118.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATGCTGA	SITE|p.H193R|c.578A>G|8,SITE|p.H193R|c.578A>G|89,SITE|p.H61R|c.182A>G|23,SITE|p.H193R|c.578A>G|21,SITE|p.H193R|c.578A>G|22,SITE|p.H100R|c.299A>G|22,SITE|p.H193R|c.578A>G|5,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.H193fs*16|c.577_578insN|3,CODON|p.H193L|c.578A>T|8,CODON|p.H61P|c.182A>C|4,CODON|p.H100L|c.299A>T|8,CODON|p.H193L|c.578A>T|8,CODON|p.H100P|c.299A>C|4,CODON|p.H193P|c.578A>C|4,CODON|p.H193L|c.578A>T|3,CODON|p.H193L|c.578A>T|3,CODON|p.H193P|c.578A>C|16,CODON|p.H193P|c.578A>C|3,CODON|p.H193L|c.578A>T|37,CODON|p.H61L|c.182A>T|10,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM083194,CM951225,TP53_g.12647A>T,TP53_g.12647A>C,TP53_g.12647A>G,COSM10742,COSM11066,COSM43833,COSM308307,COSM99919,COSM131458,COSM131459,COSM99916,COSM308306,COSM99917,COSM308308,COSM131461,COSM3820719,COSM3970355,COSM3732881,COSM1740322,COSM2744772,COSM3970354,COSM308309,COSM131460,COSM99918	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.His193Arg,ENST00000413465,;TP53,missense_variant,p.His193Arg,ENST00000420246,;TP53,missense_variant,p.His193Arg,ENST00000269305,;TP53,missense_variant,p.His61Arg,ENST00000509690,;TP53,missense_variant,p.His193Arg,ENST00000359597,;TP53,missense_variant,p.His100Arg,ENST00000514944,;TP53,missense_variant,p.His193Arg,ENST00000445888,;TP53,missense_variant,p.His193Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	768	74	57	SUCCESS
ENGASE	64772	.	GRCh37	17	77077980	77077980	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	35	92	0	ENST00000579016.1:c.873G>T	p.Arg291Ser	p.R291S	ENST00000579016	NM_001042573.2	291	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS42394.1	873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGTCTT	NONE	.	.	Pfam_domain:PF03644,hmmpanther:PTHR13246:SF0,hmmpanther:PTHR13246	.	.	ENSP00000462333	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000579016	Transcript	.	.	ENSG00000167280	24622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.461)	.	deleterious(0.03)	.	ENASE_HUMAN	ENGASE	HGNC	.	.	UPI000006CF27	SNV	ENGASE,missense_variant,p.Arg291Ser,ENST00000579016,;ENGASE,missense_variant,p.Arg250Ser,ENST00000311595,;ENGASE,missense_variant,p.Arg105Ser,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000585160,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,missense_variant,p.Arg68Ser,ENST00000300682,;ENGASE,splice_region_variant,,ENST00000578419,;ENGASE,splice_region_variant,,ENST00000583646,;ENGASE,upstream_gene_variant,,ENST00000579809,;ENGASE,upstream_gene_variant,,ENST00000583041,;ENGASE,upstream_gene_variant,,ENST00000577783,;	873	92	109	SUCCESS
YES1	7525	.	GRCh37	18	745776	745776	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs557201481	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	94	0	ENST00000314574.4:c.656A>G	p.Asn219Ser	p.N219S	ENST00000314574	NM_005433.3	219	aAt/aGt	0	.	C:0	.	C:0	.	C	N/S	protein_coding	YES	CCDS11824.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATTGTCA	NONE	by1000G	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF90,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550	C:0	.	ENSP00000462468	C:0	6/12	.	.	.	.	.	.	.	.	rs557201481	6/12	PASS	ENST00000584307	Transcript	.	C:0.0002	ENSG00000176105	12841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0.001	tolerated(0.54)	.	YES_HUMAN	YES1	HGNC	.	.	UPI0000062316	SNV	YES1,missense_variant,p.Asn219Ser,ENST00000314574,;YES1,missense_variant,p.Asn219Ser,ENST00000584307,;YES1,missense_variant,p.Asn224Ser,ENST00000577961,;	827	94	133	SUCCESS
ABCA7	10347	.	GRCh37	19	1058628	1058628	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	47	0	ENST00000263094.6:c.5161T>C	p.Phe1721Leu	p.F1721L	ENST00000263094	NM_019112.3	1721	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS12055.1	5161	RADIA|VARSCANS	.	GGCAGTTCCAG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Pfam_domain:PF12698	.	.	ENSP00000263094	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	tolerated(0.09)	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,missense_variant,p.Phe1721Leu,ENST00000433129,;ABCA7,missense_variant,p.Phe166Leu,ENST00000525073,;ABCA7,missense_variant,p.Phe1721Leu,ENST00000263094,;ABCA7,missense_variant,p.Phe1583Leu,ENST00000435683,;ABCA7,non_coding_transcript_exon_variant,,ENST00000532194,;ABCA7,downstream_gene_variant,,ENST00000529442,;ABCA7,downstream_gene_variant,,ENST00000530092,;ABCA7,upstream_gene_variant,,ENST00000525939,;	5392	47	34	SUCCESS
MYO9B	4650	.	GRCh37	19	17317927	17317927	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	64	0	ENST00000594824.1:c.5498C>T	p.Ala1833Val	p.A1833V	ENST00000594824		1833	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46010.1	5498	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCCCTGC	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000471457	.	35/40	.	.	.	.	.	.	.	.	.	35/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Ala1833Val,ENST00000595641,;MYO9B,missense_variant,p.Ala1833Val,ENST00000397274,;MYO9B,missense_variant,p.Ala1833Val,ENST00000595618,;MYO9B,missense_variant,p.Ala1833Val,ENST00000594824,;MYO9B,missense_variant,p.Ala35Val,ENST00000596942,;MYO9B,missense_variant,p.Ala6Val,ENST00000597073,;MYO9B,upstream_gene_variant,,ENST00000598419,;CTD-3032J10.3,downstream_gene_variant,,ENST00000601929,;MYO9B,downstream_gene_variant,,ENST00000593533,;MYO9B,downstream_gene_variant,,ENST00000602158,;MYO9B,upstream_gene_variant,,ENST00000597881,;MYO9B,downstream_gene_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000597572,;	5650	64	44	SUCCESS
ZNF91	7644	.	GRCh37	19	23545393	23545393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	95	0	ENST00000300619.7:c.388G>T	p.Asp130Tyr	p.D130Y	ENST00000300619	NM_003430.2	130	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42541.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCCACAC	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(1)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Asp31Tyr,ENST00000595533,;ZNF91,missense_variant,p.Asp98Tyr,ENST00000397082,;ZNF91,missense_variant,p.Asp130Tyr,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	594	95	118	SUCCESS
ATP1A3	478	.	GRCh37	19	42489335	42489335	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	23	0	ENST00000302102.5:c.728C>T	p.Thr243Met	p.T243M	ENST00000302102	NM_152296.4	243	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS58664.1	767	RADIA|SOMATICSNIPER|VARSCANS	.	GAGCCGTGCCT	NONE	.	.	Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093:SF259,hmmpanther:PTHR24093	.	.	ENSP00000444688	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,missense_variant,p.Thr213Met,ENST00000602133,;ATP1A3,missense_variant,p.Thr254Met,ENST00000543770,;ATP1A3,missense_variant,p.Thr256Met,ENST00000545399,;ATP1A3,missense_variant,p.Thr243Met,ENST00000302102,;ATP1A3,downstream_gene_variant,,ENST00000473086,;ATP1A3,downstream_gene_variant,,ENST00000468774,;ATP1A3,downstream_gene_variant,,ENST00000465007,;ATP1A3,missense_variant,p.Thr243Met,ENST00000441343,;ATP1A3,non_coding_transcript_exon_variant,,ENST00000485672,;	921	23	22	SUCCESS
KLK11	11012	.	GRCh37	19	51530742	51530742	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	29	0	ENST00000594768.1:c.32A>G	p.Lys11Arg	p.K11R	ENST00000594768	NM_144947.1	11	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS12818.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTTCCAG	NONE	.	.	hmmpanther:PTHR24275:SF13,hmmpanther:PTHR24275	.	.	ENSP00000473047	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000594768	Transcript	.	.	ENSG00000167757	6359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.74)	.	KLK11_HUMAN	KLK11	HGNC	M0QZV0_HUMAN,M0QZI8_HUMAN	.	UPI000002ACDC	SNV	KLK11,missense_variant,p.Lys11Arg,ENST00000594768,;KLK11,intron_variant,,ENST00000319720,;KLK11,intron_variant,,ENST00000391804,;KLK11,upstream_gene_variant,,ENST00000453757,;KLK11,upstream_gene_variant,,ENST00000600362,;KLK12,downstream_gene_variant,,ENST00000525263,;KLK11,upstream_gene_variant,,ENST00000601671,;KLK12,downstream_gene_variant,,ENST00000250352,;KLK12,downstream_gene_variant,,ENST00000529888,;KLK12,downstream_gene_variant,,ENST00000250351,;KLK11,upstream_gene_variant,,ENST00000593681,;KLK12,downstream_gene_variant,,ENST00000319590,;KLK11,upstream_gene_variant,,ENST00000598799,;CTC-518B2.9,upstream_gene_variant,,ENST00000594910,;KLK11,upstream_gene_variant,,ENST00000594458,;KLK11,missense_variant,p.Lys11Arg,ENST00000319756,;KLK12,downstream_gene_variant,,ENST00000530943,;KLK12,downstream_gene_variant,,ENST00000531374,;KLK12,downstream_gene_variant,,ENST00000526824,;KLK11,upstream_gene_variant,,ENST00000594827,;	218	29	25	SUCCESS
LILRA6	79168	.	GRCh37	19	54746397	54746397	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	93	0	ENST00000396365.2:c.44T>A	p.Leu15Gln	p.L15Q	ENST00000396365	NM_024318.2	15	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS42610.1	44	RADIA|VARSCANS	.	GGCCCAGACTC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738	.	.	ENSP00000379651	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000396365	Transcript	.	.	ENSG00000244482	15495	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	deleterious(0.01)	.	LIRA6_HUMAN	LILRA6	HGNC	.	.	UPI000022A9CA	SNV	LILRA6,missense_variant,p.Leu15Gln,ENST00000245621,;LILRB3,missense_variant,p.Leu15Gln,ENST00000407860,;LILRA6,missense_variant,p.Leu15Gln,ENST00000270464,;LILRA6,missense_variant,p.Leu15Gln,ENST00000391735,;LILRA6,missense_variant,p.Leu15Gln,ENST00000440558,;LILRA6,missense_variant,p.Leu15Gln,ENST00000396365,;LILRA6,missense_variant,p.Leu15Gln,ENST00000419410,;LILRA6,missense_variant,p.Leu15Gln,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;	84	93	76	SUCCESS
NAT14	57106	.	GRCh37	19	55997777	55997777	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs201053971	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	13	0	ENST00000205194.4:c.75C>T		p.X25_splice	ENST00000205194	NM_020378.3	25	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS12926.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCCGGCGT	NONE	byFrequency|byCluster|by1000G	.	Gene3D:3.40.630.30,hmmpanther:PTHR13947:SF8,hmmpanther:PTHR13947,PROSITE_profiles:PS51186	T:0.002	.	ENSP00000205194	T:0	3/3	.	.	.	.	.	.	.	.	rs201053971	3/3	PASS	ENST00000205194	Transcript	.	T:0.0004	ENSG00000090971	28918	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NAT14_HUMAN	NAT14	HGNC	.	.	UPI000006EC7E	SNV	NAT14,synonymous_variant,p.%3D,ENST00000205194,;NAT14,3_prime_UTR_variant,,ENST00000591590,;NAT14,intron_variant,,ENST00000587400,;SSC5D,upstream_gene_variant,,ENST00000594321,;SSC5D,upstream_gene_variant,,ENST00000389623,;SSC5D,upstream_gene_variant,,ENST00000587166,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000391718,;ZNF628,downstream_gene_variant,,ENST00000591164,;ZNF628,downstream_gene_variant,,ENST00000598519,;NAT14,intron_variant,,ENST00000592719,;SSC5D,upstream_gene_variant,,ENST00000588254,;	378	13	17	SUCCESS
ZNF211	10520	.	GRCh37	19	58152971	58152971	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs781751403	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	32	0	ENST00000347302.3:c.1117G>T	p.Glu373Ter	p.E373*	ENST00000347302	NM_198855.2	373	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS58686.1	1312	RADIA|VARSCANS	.	GCAGCGAATGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF201,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000299871	.	5/5	.	.	.	.	.	.	.	.	rs781751403	5/5	PASS	ENST00000299871	Transcript	.	.	ENSG00000121417	13003	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN211_HUMAN	ZNF211	HGNC	.	.	UPI0000D4CB1A	SNV	ZNF211,stop_gained,p.Glu364Ter,ENST00000254182,;ZNF211,stop_gained,p.Glu377Ter,ENST00000420680,;ZNF211,stop_gained,p.Glu386Ter,ENST00000240731,;ZNF211,stop_gained,p.Glu385Ter,ENST00000544273,;ZNF211,stop_gained,p.Glu364Ter,ENST00000541801,;ZNF211,stop_gained,p.Glu438Ter,ENST00000299871,;ZNF211,stop_gained,p.Glu373Ter,ENST00000347302,;ZNF211,stop_gained,p.Glu312Ter,ENST00000391703,;ZNF211,stop_gained,p.Glu377Ter,ENST00000407202,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;	1443	32	37	SUCCESS
MUC16	94025	.	GRCh37	19	9028261	9028261	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	63	0	ENST00000397910.4:c.36531C>T	p.Gly12177=	p.G12177=	ENST00000397910	NM_024690.2	12177	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54212.1	36531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGGCCCAG	NONE	.	.	Superfamily_domains:0047452,SMART_domains:SM00200,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	11/84	.	.	.	.	.	.	.	.	.	11/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	36735	63	58	SUCCESS
PSRC1	84722	.	GRCh37	1	109824628	109824628	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	28	0	ENST00000409138.2:c.132G>T	p.Arg44=	p.R44=	ENST00000409138		44	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS797.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCGTCG	NONE	.	.	hmmpanther:PTHR21584:SF1,hmmpanther:PTHR21584,Pfam_domain:PF15259	.	.	ENSP00000358925	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000369909	Transcript	.	.	ENSG00000134222	24472	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSRC1_HUMAN	PSRC1	HGNC	Q5T2Z1_HUMAN,Q5T2Z0_HUMAN	.	UPI0000073C97	SNV	PSRC1,synonymous_variant,p.%3D,ENST00000369909,;PSRC1,synonymous_variant,p.%3D,ENST00000429031,;PSRC1,synonymous_variant,p.%3D,ENST00000369904,;PSRC1,synonymous_variant,p.%3D,ENST00000409267,;PSRC1,synonymous_variant,p.%3D,ENST00000438534,;PSRC1,synonymous_variant,p.%3D,ENST00000418914,;PSRC1,synonymous_variant,p.%3D,ENST00000369907,;PSRC1,synonymous_variant,p.%3D,ENST00000409138,;PSRC1,synonymous_variant,p.%3D,ENST00000369903,;PSRC1,upstream_gene_variant,,ENST00000474126,;PSRC1,non_coding_transcript_exon_variant,,ENST00000471740,;PSRC1,non_coding_transcript_exon_variant,,ENST00000459765,;PSRC1,non_coding_transcript_exon_variant,,ENST00000492431,;	276	28	17	SUCCESS
FCGR1A	2209	.	GRCh37	1	149761838	149761838	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1251513620	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	57	93	2	ENST00000369168.4:c.788C>A	p.Ala263Asp	p.A263D	ENST00000369168	NM_000566.3	263	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS933.1	788	SOMATICSNIPER|VARSCANS	.	GGCTGCCACAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF11,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358165	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000369168	Transcript	.	.	ENSG00000150337	3613	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.924)	.	deleterious(0)	.	FCGR1_HUMAN	FCGR1A	HGNC	.	.	UPI000004A8BE	SNV	FCGR1A,missense_variant,p.Ala171Asp,ENST00000444948,;FCGR1A,missense_variant,p.Ala263Asp,ENST00000369168,;HIST2H2BF,intron_variant,,ENST00000545683,;HIST2H2BF,downstream_gene_variant,,ENST00000427880,;RP11-196G18.3,intron_variant,,ENST00000428289,;RP11-196G18.21,intron_variant,,ENST00000420462,;FCGR1A,upstream_gene_variant,,ENST00000489704,;	842	95	104	SUCCESS
TNN	63923	.	GRCh37	1	175048705	175048705	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	48	0	ENST00000239462.4:c.646G>A	p.Val216Met	p.V216M	ENST00000239462	NM_022093.1	216	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS30943.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGTGTGC	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000239462	.	3/19	.	.	.	.	.	.	.	.	COSM1336413	3/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.075)	.	deleterious(0.03)	1	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Val216Met,ENST00000239462,;	759	48	46	SUCCESS
CEP350	9857	.	GRCh37	1	180064893	180064893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	70	0	ENST00000367607.3:c.8747T>C	p.Val2916Ala	p.V2916A	ENST00000367607	NM_014810.4	2916	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1336.1	8747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGTCCCCC	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	35/38	.	.	.	.	.	.	.	.	.	35/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Val1091Ala,ENST00000429851,;CEP350,missense_variant,p.Val380Ala,ENST00000417046,;CEP350,missense_variant,p.Val2916Ala,ENST00000367607,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,non_coding_transcript_exon_variant,,ENST00000496440,;	9165	70	126	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204438107	204438107	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375951229	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	43	0	ENST00000367187.3:c.824C>T	p.Ala275Val	p.A275V	ENST00000367187	NM_002646.3	275	gCc/gTc	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS1446.1	824	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGCCACG	NONE	byCluster	.	hmmpanther:PTHR10048:SF30,hmmpanther:PTHR10048	.	A:0.0001	ENSP00000356155	.	3/34	.	.	.	.	.	.	.	.	rs375951229	3/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.301)	.	deleterious(0.02)	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,missense_variant,p.Ala275Val,ENST00000367187,;PIK3C2B,missense_variant,p.Ala275Val,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;PIK3C2B,upstream_gene_variant,,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;	1381	44	52	SUCCESS
IKBKE	9641	.	GRCh37	1	206649567	206649567	+	synonymous_variant	Silent	SNP	C	C	T	rs782809498	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	30	54	0	ENST00000367120.3:c.402C>T	p.Arg134=	p.R134=	ENST00000367120	NM_014002.3	134	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS30996.1	402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGCGACAT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF10,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356087	.	6/22	.	.	.	.	.	.	.	.	rs782809498,COSM209656	6/22	PASS	ENST00000367120	Transcript	.	.	ENSG00000143466	14552	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	IKKE_HUMAN	IKBKE	HGNC	.	.	UPI0000033727	SNV	IKBKE,synonymous_variant,p.%3D,ENST00000367120,;IKBKE,synonymous_variant,p.%3D,ENST00000537984,;IKBKE,upstream_gene_variant,,ENST00000492570,;IKBKE,downstream_gene_variant,,ENST00000463979,;	775	54	48	SUCCESS
STIL	6491	.	GRCh37	1	47748108	47748108	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	24	0	ENST00000360380.3:c.1157G>T	p.Gly386Val	p.G386V	ENST00000360380	NM_001282936.1	386	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS41329.1	1157	RADIA|VARSCANS	.	TCTTCCCAGAA	NONE	.	.	hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0,Pfam_domain:PF15253	.	.	ENSP00000360944	.	11/17	.	.	.	.	.	.	.	.	.	11/17	oxog	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.108)	.	deleterious(0)	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	SNV	STIL,missense_variant,p.Gly386Val,ENST00000337817,;STIL,missense_variant,p.Gly386Val,ENST00000396221,;STIL,missense_variant,p.Gly386Val,ENST00000243182,;STIL,missense_variant,p.Gly339Val,ENST00000447475,;STIL,missense_variant,p.Gly386Val,ENST00000371877,;STIL,missense_variant,p.Gly386Val,ENST00000360380,;STIL,upstream_gene_variant,,ENST00000436811,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;	1305	24	33	SUCCESS
CHD5	26038	.	GRCh37	1	6196807	6196807	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	71	0	ENST00000262450.3:c.2555T>A	p.Leu852His	p.L852H	ENST00000262450	NM_015557.2	852	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS57.1	2555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGGCGG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000262450	.	16/42	.	.	.	.	.	.	.	.	.	16/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,missense_variant,p.Leu852His,ENST00000262450,;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Leu852His,ENST00000496404,;CHD5,missense_variant,p.Leu235His,ENST00000462991,;	2655	71	49	SUCCESS
PCSK2	5126	.	GRCh37	20	17208109	17208109	+	synonymous_variant	Silent	SNP	C	C	T	rs752064526	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	73	0	ENST00000262545.2:c.159C>T	p.His53=	p.H53=	ENST00000262545	NM_002594.3	53	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS13125.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACACGGCTT	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Gene3D:1kn6A00,Superfamily_domains:SSF54897	.	.	ENSP00000262545	.	1/12	.	.	.	.	.	.	.	.	rs752064526,COSM314022	1/12	PASS	ENST00000262545	Transcript	.	.	ENSG00000125851	8744	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	NEC2_HUMAN	PCSK2	HGNC	Q9UM69_HUMAN	.	UPI0000000C6E	SNV	PCSK2,synonymous_variant,p.%3D,ENST00000262545,;PCSK2,synonymous_variant,p.%3D,ENST00000377899,;PCSK2,synonymous_variant,p.%3D,ENST00000536609,;PCSK2,upstream_gene_variant,,ENST00000470007,;	474	73	76	SUCCESS
LPIN3	64900	.	GRCh37	20	39985684	39985684	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376739657	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	24	0	ENST00000373257.3:c.1808G>A	p.Arg603His	p.R603H	ENST00000373257	NM_022896.1	603	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS33469.1	1808	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCGGCGCCTGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12181:SF32,hmmpanther:PTHR12181	.	A:0.0001	ENSP00000362354	.	15/20	.	.	.	.	.	.	.	.	rs376739657	15/20	PASS	ENST00000373257	Transcript	.	.	ENSG00000132793	14451	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	tolerated(0.06)	.	LPIN3_HUMAN	LPIN3	HGNC	.	.	UPI0000470AE3	SNV	LPIN3,missense_variant,p.Arg603His,ENST00000373257,;LPIN3,missense_variant,p.Arg93His,ENST00000445975,;EMILIN3,downstream_gene_variant,,ENST00000332312,;LPIN3,upstream_gene_variant,,ENST00000491528,;LPIN3,upstream_gene_variant,,ENST00000496565,;	1899	24	23	SUCCESS
HUNK	30811	.	GRCh37	21	33296847	33296847	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1352771277	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	35	0	ENST00000270112.2:c.329G>A	p.Arg110Gln	p.R110Q	ENST00000270112	NM_014586.1	110	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS13610.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGAGAGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343,PROSITE_profiles:PS50011	.	.	ENSP00000270112	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000270112	Transcript	.	.	ENSG00000142149	13326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HUNK_HUMAN	HUNK	HGNC	.	.	UPI0000035B66	SNV	HUNK,missense_variant,p.Arg110Gln,ENST00000270112,;HUNK,upstream_gene_variant,,ENST00000430354,;	689	35	57	SUCCESS
KRTAP10-12	386685	.	GRCh37	21	46117591	46117591	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	147	0	ENST00000400365.3:c.475C>T	p.Pro159Ser	p.P159S	ENST00000400365	NM_198699.1	159	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42967.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGCCCATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF8,hmmpanther:PTHR23262	.	.	ENSP00000383216	.	1/1	.	.	.	.	.	.	.	.	COSM3842038	1/1	PASS	ENST00000400365	Transcript	.	.	ENSG00000189169	20533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated(0.05)	1	KR10C_HUMAN	KRTAP10-12	HGNC	.	.	UPI000021C445	SNV	KRTAP10-12,missense_variant,p.Pro159Ser,ENST00000400365,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-13P,upstream_gene_variant,,ENST00000412914,;	505	147	94	SUCCESS
PLA2G6	8398	.	GRCh37	22	38528998	38528998	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374007706	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	49	0	ENST00000332509.3:c.917G>A	p.Arg306Gln	p.R306Q	ENST00000332509	NM_003560.2	306	cGg/cAg	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13967.1	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCGTTTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24139:SF27,hmmpanther:PTHR24139,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	.	T:0.0001	ENSP00000333142	.	7/17	.	.	.	.	.	.	.	.	rs374007706	7/17	PASS	ENST00000332509	Transcript	.	.	ENSG00000184381	9039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	tolerated(0.26)	.	PLPL9_HUMAN	PLA2G6	HGNC	M0R3D9_HUMAN,M0R1Q9_HUMAN,F8WEQ9_HUMAN	.	UPI00001310F3	SNV	PLA2G6,missense_variant,p.Arg306Gln,ENST00000335539,;PLA2G6,missense_variant,p.Arg306Gln,ENST00000402064,;PLA2G6,missense_variant,p.Arg58Gln,ENST00000427453,;PLA2G6,missense_variant,p.Arg111Gln,ENST00000427114,;PLA2G6,missense_variant,p.Arg137Gln,ENST00000452542,;PLA2G6,missense_variant,p.Arg306Gln,ENST00000332509,;PLA2G6,downstream_gene_variant,,ENST00000498338,;PLA2G6,upstream_gene_variant,,ENST00000452794,;PLA2G6,missense_variant,p.Arg33Gln,ENST00000448094,;PLA2G6,intron_variant,,ENST00000471636,;PLA2G6,upstream_gene_variant,,ENST00000480154,;	1101	49	33	SUCCESS
MGAT3	4248	.	GRCh37	22	39883537	39883537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	56	0	ENST00000341184.6:c.185C>A	p.Pro62His	p.P62H	ENST00000341184	NM_002409.4	62	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS13994.2	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCGAGC	NONE	.	.	hmmpanther:PTHR12224,hmmpanther:PTHR12224:SF0	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.182)	.	deleterious_low_confidence(0.02)	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,missense_variant,p.Pro90His,ENST00000418314,;MGAT3,missense_variant,p.Pro62His,ENST00000341184,;MGAT3,missense_variant,p.Pro62His,ENST00000429402,;	400	56	36	SUCCESS
PPARA	5465	.	GRCh37	22	46615711	46615711	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	22	0	ENST00000262735.5:c.511A>C	p.Ile171Leu	p.I171L	ENST00000262735	NM_005036.4	171	Att/Ctt	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS33669.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCGATTCGT	NONE	.	.	Prints_domain:PR00398,Superfamily_domains:SSF57716,Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF197,PROSITE_profiles:PS51030	.	.	ENSP00000379322	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000396000	Transcript	.	.	ENSG00000186951	9232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	deleterious(0)	.	PPARA_HUMAN	PPARA	HGNC	F1D8S4_HUMAN,B0QYX2_HUMAN	.	UPI000000D8E0	SNV	PPARA,missense_variant,p.Ile171Leu,ENST00000262735,;PPARA,missense_variant,p.Ile171Leu,ENST00000396000,;PPARA,missense_variant,p.Ile171Leu,ENST00000402126,;PPARA,missense_variant,p.Ile171Leu,ENST00000407236,;PPARA,intron_variant,,ENST00000434345,;PPARA,downstream_gene_variant,,ENST00000420804,;PPARA,splice_region_variant,,ENST00000493286,;	776	22	39	SUCCESS
SBF1	6305	.	GRCh37	22	50899106	50899106	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	42	0	ENST00000380817.3:c.3003T>C	p.Ser1001=	p.S1001=	ENST00000380817	NM_002972.2	1001	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS14091.2	3003	RADIA|VARSCANS	.	CTGTCAGACCC	NONE	.	.	hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Superfamily_domains:SSF50729	.	.	ENSP00000370196	.	24/41	.	.	.	.	.	.	.	.	.	24/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,synonymous_variant,p.%3D,ENST00000390679,;SBF1,synonymous_variant,p.%3D,ENST00000348911,;SBF1,synonymous_variant,p.%3D,ENST00000380817,;SBF1,upstream_gene_variant,,ENST00000476293,;SBF1,upstream_gene_variant,,ENST00000470434,;	3187	42	37	SUCCESS
DHRS9	10170	.	GRCh37	2	169938117	169938117	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	30	0	ENST00000357546.2:c.26T>A	p.Leu9Gln	p.L9Q	ENST00000357546	NM_199204.1	9	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS2231.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTAATCC	NONE	.	.	hmmpanther:PTHR24316:SF266,hmmpanther:PTHR24316,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000316670	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000327239	Transcript	.	.	ENSG00000073737	16888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	deleterious(0.02)	.	DHRS9_HUMAN	DHRS9	HGNC	Q53TL1_HUMAN,Q4ZG83_HUMAN,C9J430_HUMAN	.	UPI00000389D3	SNV	DHRS9,missense_variant,p.Leu9Gln,ENST00000602501,;DHRS9,missense_variant,p.Leu9Gln,ENST00000327239,;DHRS9,missense_variant,p.Leu9Gln,ENST00000436483,;DHRS9,missense_variant,p.Leu69Gln,ENST00000432060,;DHRS9,missense_variant,p.Leu9Gln,ENST00000428522,;DHRS9,missense_variant,p.Leu9Gln,ENST00000357546,;DHRS9,missense_variant,p.Leu9Gln,ENST00000450153,;DHRS9,missense_variant,p.Leu9Gln,ENST00000412271,;DHRS9,intron_variant,,ENST00000421653,;	1530	30	47	SUCCESS
TTN	7273	.	GRCh37	2	179648462	179648462	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	61	83	0	ENST00000591111.1:c.2826A>G	p.Pro942=	p.P942=	ENST00000591111		942	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS59435.1	2826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGTGGAGT	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	17/363	.	.	.	.	.	.	.	.	.	17/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000360870,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000436599,;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	3051	83	139	SUCCESS
SLC39A10	57181	.	GRCh37	2	196593015	196593015	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	134	147	0	ENST00000359634.5:c.2279C>A	p.Thr760Lys	p.T760K	ENST00000359634	NM_020342.2	760	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS33353.1	2279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACACTTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000386766	.	9/10	.	.	.	.	.	.	.	.	COSM3364464	9/10	PASS	ENST00000409086	Transcript	.	.	ENSG00000196950	20861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	S39AA_HUMAN	SLC39A10	HGNC	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN	.	UPI000004A043	SNV	SLC39A10,missense_variant,p.Thr760Lys,ENST00000409086,;SLC39A10,missense_variant,p.Thr310Lys,ENST00000541054,;SLC39A10,missense_variant,p.Thr760Lys,ENST00000359634,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;	2554	147	281	SUCCESS
ABCA12	26154	.	GRCh37	2	215843664	215843664	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	20	69	0	ENST00000272895.7:c.4841G>A	p.Gly1614Glu	p.G1614E	ENST00000272895	NM_173076.2	1614	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS33372.1	4841	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCCCCCA	NONE	.	.	hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	32/53	.	.	.	.	.	.	.	.	.	32/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Gly1296Glu,ENST00000389661,;ABCA12,missense_variant,p.Gly1614Glu,ENST00000272895,;	5061	69	113	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218924548	218924548	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	18	0	ENST00000439871.1:n.1833A>G		p.*611*	ENST00000439871				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|MUSE|VARSCANS	.	TCTTGTGGGTC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	1833	18	18	SUCCESS
SLC19A3	80704	.	GRCh37	2	228563990	228563990	+	synonymous_variant	Silent	SNP	C	C	A	rs760412776	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	28	0	ENST00000258403.3:c.441G>T	p.Thr147=	p.T147=	ENST00000258403	NM_025243.3	147	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2468.1	441	RADIA|MUSE|VARSCANS	.	GCCAGCGTGAC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF17,Gene3D:1.20.1250.20,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500795,Superfamily_domains:SSF103473	.	.	ENSP00000258403	.	3/6	.	.	.	.	.	.	.	.	rs760412776	3/6	oxog	ENST00000258403	Transcript	.	.	ENSG00000135917	16266	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S19A3_HUMAN	SLC19A3	HGNC	C9J4J5_HUMAN,C9IZI1_HUMAN,B8ZZ39_HUMAN	.	UPI000004DAE9	SNV	SLC19A3,synonymous_variant,p.%3D,ENST00000258403,;SLC19A3,synonymous_variant,p.%3D,ENST00000541617,;SLC19A3,intron_variant,,ENST00000409287,;SLC19A3,downstream_gene_variant,,ENST00000419059,;SLC19A3,downstream_gene_variant,,ENST00000409456,;SLC19A3,downstream_gene_variant,,ENST00000456524,;SLC19A3,synonymous_variant,p.%3D,ENST00000425817,;SLC19A3,downstream_gene_variant,,ENST00000431622,;SLC19A3,downstream_gene_variant,,ENST00000477697,;	513	28	36	SUCCESS
MSH6	2956	.	GRCh37	2	48025798	48025798	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	21	0	ENST00000234420.5:c.676G>T	p.Glu226Ter	p.E226*	ENST00000234420	NM_000179.2	226	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS1836.1	676	RADIA|VARSCANS	.	AAATTGAGAGT	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037677	.	.	ENSP00000234420	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000234420	Transcript	.	.	ENSG00000116062	7329	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSH6_HUMAN	MSH6	HGNC	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN	.	UPI00000405F8	SNV	MSH6,stop_gained,p.Glu127Ter,ENST00000411819,;MSH6,stop_gained,p.Glu226Ter,ENST00000234420,;MSH6,stop_gained,p.Glu96Ter,ENST00000540021,;MSH6,5_prime_UTR_variant,,ENST00000538136,;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000420813,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,3_prime_UTR_variant,,ENST00000445503,;MSH6,3_prime_UTR_variant,,ENST00000456246,;FBXO11,intron_variant,,ENST00000434234,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;	828	21	33	SUCCESS
RTN4	57142	.	GRCh37	2	55254616	55254616	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	20	0	ENST00000337526.6:c.619A>G	p.Met207Val	p.M207V	ENST00000337526	NM_020532.4	207	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS42684.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCATATTTT	NONE	.	.	hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994	.	.	ENSP00000337838	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.16)	.	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,start_lost,p.Met1?,ENST00000404909,;RTN4,start_lost,p.Met1?,ENST00000405240,;RTN4,start_lost,p.Met1?,ENST00000427710,;RTN4,start_lost,p.Met1?,ENST00000357376,;RTN4,start_lost,p.Met1?,ENST00000394611,;RTN4,missense_variant,p.Met207Val,ENST00000337526,;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000357732,;RTN4,intron_variant,,ENST00000438462,;RTN4,intron_variant,,ENST00000354474,;RTN4,intron_variant,,ENST00000317610,;	863	20	43	SUCCESS
RTN4	57142	.	GRCh37	2	55254618	55254618	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs774409182	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	19	0	ENST00000337526.6:c.617A>C	p.Asn206Thr	p.N206T	ENST00000337526	NM_020532.4	206	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS42684.1	617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATATTTTCT	NONE	.	.	hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994	.	.	ENSP00000337838	.	3/9	.	.	.	.	.	.	.	.	rs774409182	3/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0)	.	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,missense_variant,p.Asn206Thr,ENST00000337526,;RTN4,5_prime_UTR_variant,,ENST00000404909,;RTN4,5_prime_UTR_variant,,ENST00000405240,;RTN4,5_prime_UTR_variant,,ENST00000427710,;RTN4,5_prime_UTR_variant,,ENST00000357376,;RTN4,5_prime_UTR_variant,,ENST00000394611,;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000357732,;RTN4,intron_variant,,ENST00000438462,;RTN4,intron_variant,,ENST00000354474,;RTN4,intron_variant,,ENST00000317610,;	861	19	42	SUCCESS
TATDN2	9797	.	GRCh37	3	10290922	10290922	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	45	0	ENST00000287652.4:c.38G>T	p.Ser13Ile	p.S13I	ENST00000287652	NM_014760.3	13	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS33698.1	38	RADIA|MUSE|VARSCANS	.	CTGGAGCAGCA	NONE	.	.	hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19	.	.	ENSP00000287652	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000287652	Transcript	.	.	ENSG00000157014	28988	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.164)	.	deleterious_low_confidence(0.01)	.	TATD2_HUMAN	TATDN2	HGNC	H7BZJ2_HUMAN	.	UPI000013DEC1	SNV	TATDN2,missense_variant,p.Ser13Ile,ENST00000448281,;TATDN2,missense_variant,p.Ser13Ile,ENST00000287652,;RP11-438J1.1,upstream_gene_variant,,ENST00000450534,;RP11-438J1.1,upstream_gene_variant,,ENST00000437082,;	1089	45	53	SUCCESS
CASR	846	.	GRCh37	3	122003982	122003982	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	32	0	ENST00000490131.1:c.3181A>G	p.Ser1061Gly	p.S1061G	ENST00000490131	NM_000388.3	1061	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS54632.1	3211	RADIA|VARSCANS	.	CACAGAGCTTT	NONE	.	.	.	.	.	ENSP00000420194	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.31)	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,missense_variant,p.Ser1061Gly,ENST00000296154,;CASR,missense_variant,p.Ser1071Gly,ENST00000498619,;CASR,missense_variant,p.Ser1061Gly,ENST00000490131,;AC068754.1,downstream_gene_variant,,ENST00000408547,;	3649	32	38	SUCCESS
CTNNB1	1499	.	GRCh37	3	41275047	41275047	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	55	0	ENST00000349496.5:c.1213C>T	p.Leu405Phe	p.L405F	ENST00000349496	NM_001904.3	405	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2694.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTTGTT	NONE	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000344456	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Leu405Phe,ENST00000349496,;CTNNB1,missense_variant,p.Leu405Phe,ENST00000396185,;CTNNB1,missense_variant,p.Leu405Phe,ENST00000405570,;CTNNB1,missense_variant,p.Leu398Phe,ENST00000453024,;CTNNB1,missense_variant,p.Leu405Phe,ENST00000396183,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;CTNNB1,upstream_gene_variant,,ENST00000482042,;	1493	55	58	SUCCESS
CSPG5	10675	.	GRCh37	3	47619095	47619095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	40	0	ENST00000383738.2:c.421C>A	p.Pro141Thr	p.P141T	ENST00000383738	NM_001206945.1	141	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS56253.1	421	RADIA|VARSCANS	.	GGCAGGGGGCA	NONE	.	.	Pfam_domain:PF06566,hmmpanther:PTHR15381,hmmpanther:PTHR15381:SF1	.	.	ENSP00000373244	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000383738	Transcript	.	.	ENSG00000114646	2467	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.044)	.	deleterious_low_confidence(0.04)	.	CSPG5_HUMAN	CSPG5	HGNC	B7Z2E0_HUMAN	.	UPI0000D61AFE	SNV	CSPG5,missense_variant,p.Pro141Thr,ENST00000264723,;CSPG5,missense_variant,p.Pro141Thr,ENST00000383738,;CSPG5,missense_variant,p.Pro3Thr,ENST00000456150,;CSPG5,downstream_gene_variant,,ENST00000465441,;	2520	40	27	SUCCESS
STAB1	23166	.	GRCh37	3	52549455	52549455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	45	0	ENST00000321725.6:c.3881G>T	p.Ser1294Ile	p.S1294I	ENST00000321725	NM_015136.2	1294	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS33768.1	3881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGCTGTG	NONE	.	.	Gene3D:2gy5A03,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	37/69	.	.	.	.	.	.	.	.	.	37/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.288)	.	deleterious(0.03)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ser1294Ile,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;	3957	45	28	SUCCESS
C3orf67	0	.	GRCh37	3	58855185	58855185	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751925163	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	89	0	ENST00000295966.7:c.509G>A	p.Arg170Gln	p.R170Q	ENST00000295966	NM_198463.2	170	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33776.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATCGGTTA	NONE	byFrequency	.	hmmpanther:PTHR12458:SF7,hmmpanther:PTHR12458	.	.	ENSP00000295966	.	9/16	.	.	.	.	.	.	.	.	rs751925163	9/16	PASS	ENST00000295966	Transcript	.	.	ENSG00000163689	24763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	tolerated(0.19)	.	CC067_HUMAN	C3orf67	HGNC	.	.	UPI00001C098C	SNV	C3orf67,missense_variant,p.Arg90Gln,ENST00000472469,;C3orf67,missense_variant,p.Arg170Gln,ENST00000482387,;C3orf67,missense_variant,p.Arg170Gln,ENST00000295966,;RP11-147N17.1,intron_variant,,ENST00000493123,;RP11-147N17.1,intron_variant,,ENST00000463703,;RP11-147N17.1,intron_variant,,ENST00000492031,;RP11-147N17.1,intron_variant,,ENST00000482372,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;	1013	89	136	SUCCESS
SYNPR	132204	.	GRCh37	3	63428954	63428954	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	28	0	ENST00000295894.5:c.-168G>A		p.*56*	ENST00000295894	NM_144642.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46859.1	.	MUTECT|MUSE	.	GATTGGTATAA	NONE	.	.	.	.	.	ENSP00000418994	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000478300	Transcript	.	.	ENSG00000163630	16507	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNPR_HUMAN	SYNPR	HGNC	B7Z9J3_HUMAN	.	UPI00005796D8	SNV	SYNPR,5_prime_UTR_variant,,ENST00000295894,;SYNPR,intron_variant,,ENST00000478300,;SYNPR,upstream_gene_variant,,ENST00000465156,;SYNPR,upstream_gene_variant,,ENST00000479198,;SYNPR,upstream_gene_variant,,ENST00000460711,;SYNPR-AS1,intron_variant,,ENST00000488201,;SYNPR,splice_donor_variant,,ENST00000467934,;SYNPR,intron_variant,,ENST00000460142,;SYNPR,intron_variant,,ENST00000496889,;SYNPR,intron_variant,,ENST00000493532,;SYNPR,intron_variant,,ENST00000478456,;SYNPR,upstream_gene_variant,,ENST00000478744,;SYNPR,5_prime_UTR_variant,,ENST00000498449,;SYNPR,intron_variant,,ENST00000450542,;SYNPR,intron_variant,,ENST00000468110,;SYNPR,upstream_gene_variant,,ENST00000472899,;	.	28	33	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64587702	64587702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	45	0	ENST00000498707.1:c.3935A>G	p.Glu1312Gly	p.E1312G	ENST00000498707	NM_182920.1	1312	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2903.1	3935	RADIA|MUTECT|VARSCANS	.	AGTCCTCATTT	NONE	.	.	hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723	.	.	ENSP00000418735	.	26/40	.	.	.	.	.	.	.	.	.	26/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.31)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Glu368Gly,ENST00000481060,;ADAMTS9,missense_variant,p.Glu1284Gly,ENST00000295903,;ADAMTS9,missense_variant,p.Glu1312Gly,ENST00000498707,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;	4278	45	42	SUCCESS
ROBO2	6092	.	GRCh37	3	77626718	77626718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	41	76	0	ENST00000461745.1:c.2281G>T	p.Asp761Tyr	p.D761Y	ENST00000461745	NM_002942.4	761	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54609.1	2329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGATCCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Asp761Tyr,ENST00000332191,;ROBO2,missense_variant,p.Asp781Tyr,ENST00000602589,;ROBO2,missense_variant,p.Asp761Tyr,ENST00000461745,;ROBO2,missense_variant,p.Asp777Tyr,ENST00000487694,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;	2608	76	116	SUCCESS
EPHA6	285220	.	GRCh37	3	97202883	97202883	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	80	0	ENST00000389672.5:c.2180T>C	p.Ile727Thr	p.I727T	ENST00000389672	NM_001080448.2	727	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS46876.1	2180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTATTGAGA	BUFFER|p.R118C|c.352C>T|4,BUFFER|p.R726C|c.2176C>T|3,BUFFER|p.R632C|c.1894C>T|4	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF24,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000374323	.	10/18	.	.	.	.	.	.	.	.	COSM3598115,COSM3598113,COSM3598114	10/18	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1,1	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,missense_variant,p.Ile93Thr,ENST00000442602,;EPHA6,missense_variant,p.Ile727Thr,ENST00000389672,;EPHA6,missense_variant,p.Ile119Thr,ENST00000502694,;EPHA6,missense_variant,p.Ile119Thr,ENST00000514100,;EPHA6,missense_variant,p.Ile93Thr,ENST00000477384,;EPHA6,missense_variant,p.Ile93Thr,ENST00000508345,;EPHA6,missense_variant,p.Ile119Thr,ENST00000503760,;RP11-529P9.1,upstream_gene_variant,,ENST00000381974,;	2218	80	85	SUCCESS
FGA	2243	.	GRCh37	4	155505870	155505870	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779020384	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	50	0	ENST00000302053.3:c.2007G>T	p.Leu669Phe	p.L669F	ENST00000302053	NM_000508.3	669	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3787.1	2007	RADIA|MUTECT|VARSCANS	.	CCTCCCAAACT	NONE	byFrequency	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000306361	.	6/6	.	.	.	.	.	.	.	.	rs779020384,COSM3601141	6/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.962)	.	deleterious(0)	0,1	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Leu669Phe,ENST00000302053,;FGA,downstream_gene_variant,,ENST00000403106,;	2086	50	52	SUCCESS
VEGFC	7424	.	GRCh37	4	177632688	177632688	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	46	0	ENST00000280193.2:c.669C>A	p.Ser223=	p.S223=	ENST00000280193	NM_005429.3	223	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43285.1	669	MUTECT|VARSCANS	.	ATAATGGAATG	NONE	.	.	hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3	.	.	ENSP00000280193	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000280193	Transcript	1	.	ENSG00000150630	12682	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VEGFC_HUMAN	VEGFC	HGNC	.	.	UPI000020B749	SNV	VEGFC,synonymous_variant,p.%3D,ENST00000280193,;VEGFC,non_coding_transcript_exon_variant,,ENST00000507638,;	1085	46	44	SUCCESS
FAM193A	8603	.	GRCh37	4	2698242	2698242	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	47	147	0	ENST00000324666.5:c.2556G>T	p.Leu852Phe	p.L852F	ENST00000324666	NM_001256666.1	852	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS58875.1	2556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTGCAGTT	NONE	.	.	hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109	.	.	ENSP00000324587	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000324666	Transcript	.	.	ENSG00000125386	16822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	F193A_HUMAN	FAM193A	HGNC	E7EUR8_HUMAN,D6R990_HUMAN	.	UPI0000551BCA	SNV	FAM193A,missense_variant,p.Leu852Phe,ENST00000545951,;FAM193A,missense_variant,p.Leu706Phe,ENST00000513350,;FAM193A,missense_variant,p.Leu852Phe,ENST00000324666,;FAM193A,missense_variant,p.Leu852Phe,ENST00000382839,;FAM193A,missense_variant,p.Leu852Phe,ENST00000505311,;FAM193A,missense_variant,p.Leu874Phe,ENST00000502458,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,non_coding_transcript_exon_variant,,ENST00000506120,;	2907	147	168	SUCCESS
POLR2B	5431	.	GRCh37	4	57860856	57860856	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	25	50	0	ENST00000314595.5:c.400A>G	p.Lys134Glu	p.K134E	ENST00000314595	NM_000938.1	134	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3511.1	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTAAAGAA	NONE	.	.	Superfamily_domains:SSF64484,Pfam_domain:PF04563,Gene3D:2a6hC02,hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856	.	.	ENSP00000370625	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000381227	Transcript	.	.	ENSG00000047315	9188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.52)	.	RPB2_HUMAN	POLR2B	HGNC	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN	.	UPI00001345D1	SNV	POLR2B,missense_variant,p.Lys127Glu,ENST00000441246,;POLR2B,missense_variant,p.Lys59Glu,ENST00000431623,;POLR2B,missense_variant,p.Lys134Glu,ENST00000381227,;POLR2B,missense_variant,p.Lys134Glu,ENST00000314595,;POLR2B,downstream_gene_variant,,ENST00000433463,;POLR2B,downstream_gene_variant,,ENST00000450656,;snoU13,downstream_gene_variant,,ENST00000459266,;	813	50	42	SUCCESS
SLC35A4	113829	.	GRCh37	5	139947621	139947621	+	synonymous_variant	Silent	SNP	C	C	A	rs779439182	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	49	0	ENST00000323146.3:c.867C>A	p.Val289=	p.V289=	ENST00000323146	NM_080670.2	289	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4231.1	867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTCAACGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF005799,Pfam_domain:PF04142,hmmpanther:PTHR10231,hmmpanther:PTHR10231:SF37	.	.	ENSP00000424566	.	2/2	.	.	.	.	.	.	.	.	rs779439182	2/2	PASS	ENST00000514199	Transcript	.	.	ENSG00000176087	20753	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35A4_HUMAN	SLC35A4	HGNC	.	.	UPI0000036D2F	SNV	SLC35A4,synonymous_variant,p.%3D,ENST00000323146,;SLC35A4,synonymous_variant,p.%3D,ENST00000514199,;APBB3,upstream_gene_variant,,ENST00000511201,;APBB3,upstream_gene_variant,,ENST00000412920,;APBB3,upstream_gene_variant,,ENST00000508496,;APBB3,upstream_gene_variant,,ENST00000354402,;APBB3,upstream_gene_variant,,ENST00000356738,;APBB3,upstream_gene_variant,,ENST00000358580,;APBB3,upstream_gene_variant,,ENST00000357560,;APBB3,intron_variant,,ENST00000507279,;APBB3,intron_variant,,ENST00000513766,;APBB3,upstream_gene_variant,,ENST00000505617,;SLC35A4,downstream_gene_variant,,ENST00000508770,;APBB3,upstream_gene_variant,,ENST00000467078,;APBB3,upstream_gene_variant,,ENST00000506165,;APBB3,upstream_gene_variant,,ENST00000503850,;APBB3,upstream_gene_variant,,ENST00000511459,;APBB3,upstream_gene_variant,,ENST00000510241,;APBB3,upstream_gene_variant,,ENST00000509914,;APBB3,upstream_gene_variant,,ENST00000506289,;APBB3,upstream_gene_variant,,ENST00000513507,;SLC35A4,downstream_gene_variant,,ENST00000514137,;APBB3,upstream_gene_variant,,ENST00000511896,;APBB3,upstream_gene_variant,,ENST00000506958,;	2553	49	50	SUCCESS
RBM22	55696	.	GRCh37	5	150072842	150072842	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	47	0	ENST00000199814.4:c.939A>G	p.Lys313=	p.K313=	ENST00000199814	NM_018047.2	313	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS34278.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTTTTC	NONE	.	.	hmmpanther:PTHR14089:SF13,hmmpanther:PTHR14089,Gene3D:3.30.70.330	.	.	ENSP00000199814	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000199814	Transcript	.	.	ENSG00000086589	25503	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM22_HUMAN	RBM22	HGNC	.	.	UPI00000223D3	SNV	RBM22,synonymous_variant,p.%3D,ENST00000540000,;RBM22,synonymous_variant,p.%3D,ENST00000199814,;RBM22,synonymous_variant,p.%3D,ENST00000447771,;RBM22,downstream_gene_variant,,ENST00000521464,;RBM22,downstream_gene_variant,,ENST00000518917,;RBM22,non_coding_transcript_exon_variant,,ENST00000520132,;RBM22,downstream_gene_variant,,ENST00000522469,;RBM22,downstream_gene_variant,,ENST00000521248,;RBM22,downstream_gene_variant,,ENST00000521594,;	1061	47	26	SUCCESS
CPEB4	80315	.	GRCh37	5	173382915	173382915	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs199562365	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	25	0	ENST00000265085.5:c.1965G>T		p.X655_splice	ENST00000265085	NM_030627.2	655	gtG/gtT	0	A:0	.	.	.	.	T	V	protein_coding	YES	CCDS4390.1	1965	RADIA|MUTECT|VARSCANS	.	CAGGTGGAAGT	NONE	byCluster	.	hmmpanther:PTHR12566:SF2,hmmpanther:PTHR12566,PROSITE_profiles:PS50102	.	A:0.0002	ENSP00000265085	.	10/10	.	.	.	.	.	.	.	.	rs199562365	10/10	PASS	ENST00000265085	Transcript	.	.	ENSG00000113742	21747	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPEB4_HUMAN	CPEB4	HGNC	.	.	UPI000020C179	SNV	CPEB4,synonymous_variant,p.%3D,ENST00000522336,;CPEB4,synonymous_variant,p.%3D,ENST00000334035,;CPEB4,synonymous_variant,p.%3D,ENST00000517880,;CPEB4,synonymous_variant,p.%3D,ENST00000520867,;CPEB4,synonymous_variant,p.%3D,ENST00000265085,;CPEB4,downstream_gene_variant,,ENST00000519835,;CPEB4,splice_region_variant,,ENST00000519467,;	3419	25	32	SUCCESS
CAPSL	133690	.	GRCh37	5	35910562	35910562	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs764212974	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	33	87	0	ENST00000397366.1:c.221T>A	p.Val74Asp	p.V74D	ENST00000397366	NM_001042625.1	74	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS3912.2	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGACCACA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF551,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000380524	.	3/5	.	.	.	.	.	.	.	.	rs764212974	3/5	PASS	ENST00000397367	Transcript	.	.	ENSG00000152611	28375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.73)	.	CAPSL_HUMAN	CAPSL	HGNC	D6RF97_HUMAN	.	UPI0000149B20	SNV	CAPSL,missense_variant,p.Val74Asp,ENST00000397366,;CAPSL,missense_variant,p.Val74Asp,ENST00000514524,;CAPSL,missense_variant,p.Val74Asp,ENST00000513623,;CAPSL,missense_variant,p.Val74Asp,ENST00000397367,;	348	87	107	SUCCESS
PDE8B	8622	.	GRCh37	5	76646969	76646969	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1470494378	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	38	0	ENST00000264917.5:c.1097G>A	p.Gly366Asp	p.G366D	ENST00000264917	NM_003719.3	366	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4037.1	1097	RADIA|VARSCANS	.	GATTGGCCAAG	NONE	.	.	hmmpanther:PTHR11347:SF98,hmmpanther:PTHR11347,Pfam_domain:PF13426,TIGRFAM_domain:TIGR00229,Gene3D:3.30.450.20,Superfamily_domains:SSF55785	.	.	ENSP00000264917	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000264917	Transcript	1	.	ENSG00000113231	8794	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PDE8B_HUMAN	PDE8B	HGNC	Q3ZCR2_HUMAN,D6RH10_HUMAN,D6R9W0_HUMAN,B3KN77_HUMAN	.	UPI0000001BBE	SNV	PDE8B,missense_variant,p.Gly366Asp,ENST00000333194,;PDE8B,missense_variant,p.Gly346Asp,ENST00000342343,;PDE8B,missense_variant,p.Gly366Asp,ENST00000264917,;PDE8B,missense_variant,p.Gly319Asp,ENST00000340978,;PDE8B,intron_variant,,ENST00000346042,;PDE8B,downstream_gene_variant,,ENST00000503963,;	1142	38	36	SUCCESS
MED23	9439	.	GRCh37	6	131917145	131917145	+	synonymous_variant	Silent	SNP	C	C	A	rs751244458	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	33	0	ENST00000368068.3:c.2937G>T	p.Pro979=	p.P979=	ENST00000368068	NM_004830.3	979	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5147.1	2937	RADIA|VARSCANS	.	GATACCGGAAG	NONE	byFrequency	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	22/29	.	.	.	.	.	.	.	.	rs751244458	22/29	oxog	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,synonymous_variant,p.%3D,ENST00000545957,;MED23,synonymous_variant,p.%3D,ENST00000368068,;MED23,synonymous_variant,p.%3D,ENST00000354577,;MED23,synonymous_variant,p.%3D,ENST00000403834,;MED23,synonymous_variant,p.%3D,ENST00000368060,;MED23,synonymous_variant,p.%3D,ENST00000368058,;MED23,downstream_gene_variant,,ENST00000540546,;MED23,downstream_gene_variant,,ENST00000368053,;MED23,non_coding_transcript_exon_variant,,ENST00000479213,;MED23,upstream_gene_variant,,ENST00000484885,;	3117	33	34	SUCCESS
NMBR	4829	.	GRCh37	6	142409410	142409410	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	18	0	ENST00000258042.1:c.386T>G	p.Val129Gly	p.V129G	ENST00000258042	NM_002511.2	129	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS5196.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAAACCCCC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00358,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_patterns:PS00237,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,PROSITE_profiles:PS50262	.	.	ENSP00000258042	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258042	Transcript	.	.	ENSG00000135577	7843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	NMBR_HUMAN	NMBR	HGNC	.	.	UPI000013CFAB	SNV	NMBR,missense_variant,p.Val129Gly,ENST00000258042,;RP11-137J7.2,non_coding_transcript_exon_variant,,ENST00000454401,;	527	18	19	SUCCESS
RNF144B	255488	.	GRCh37	6	18427909	18427909	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	19	0	ENST00000259939.3:c.263A>G	p.Glu88Gly	p.E88G	ENST00000259939	NM_182757.3	88	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34345.1	263	RADIA|VARSCANS	.	GCAGGAAGCTG	NONE	.	.	Superfamily_domains:SSF57850,hmmpanther:PTHR11685:SF104,hmmpanther:PTHR11685	.	.	ENSP00000259939	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000259939	Transcript	.	.	ENSG00000137393	21578	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.082)	.	tolerated(0.19)	.	R144B_HUMAN	RNF144B	HGNC	.	.	UPI00001B2DA3	SNV	RNF144B,missense_variant,p.Glu88Gly,ENST00000259939,;RNF144B,intron_variant,,ENST00000429054,;	580	19	32	SUCCESS
PGBD1	84547	.	GRCh37	6	28269056	28269056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	89	0	ENST00000259883.3:c.1425G>T	p.Arg475Ser	p.R475S	ENST00000259883		475	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4648.1	1425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGGAAAT	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9,Pfam_domain:PF13843	.	.	ENSP00000385213	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000405948	Transcript	.	.	ENSG00000137338	19398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0.03)	.	PGBD1_HUMAN	PGBD1	HGNC	.	.	UPI000006ED63	SNV	PGBD1,missense_variant,p.Arg475Ser,ENST00000405948,;PGBD1,missense_variant,p.Arg475Ser,ENST00000259883,;	1845	89	117	SUCCESS
HLA-A	3105	.	GRCh37	6	29910376	29910376	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs762796897,rs41548119	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	61	1	ENST00000376809.5:c.46G>C	p.Ala16Pro	p.A16P	ENST00000376809	NM_002116.7	16	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS34373.1	46	RADIA|VARSCANS	.	CGGGGGCCCTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF149	.	.	ENSP00000379873	.	3/10	.	.	.	.	.	.	.	.	rs762796897,rs41548119,CP995093	3/10	PASS	ENST00000396634	Transcript	.	.	ENSG00000206503	4931	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,0,1	.	.	possibly_damaging(0.653)	.	deleterious_low_confidence(0.02)	.	1A03_HUMAN,1A30_HUMAN,1A11_HUMAN	HLA-A	HGNC	S5CRT1_HUMAN,S4TZI2_HUMAN,S4TZE1_HUMAN,R9WYX8_HUMAN,R4I501_HUMAN,R4I3H2_HUMAN,M9PNR0_HUMAN,M9PAA7_HUMAN,M9PAA4_HUMAN,M9P8Z4_HUMAN,M4N6L9_HUMAN,M1SQT4_HUMAN,M1KE04_HUMAN,M1FYE6_HUMAN,M1FYE3_HUMAN,M1FWW6_HUMAN,M1F5P2_HUMAN,Q9UEX6_HUMAN,Q9TQ84_HUMAN,Q9MYA8_HUMAN,Q8HWS5_HUMAN,Q861Q7_HUMAN,Q5XLD1_HUMAN,Q2L4E7_HUMAN,Q29840_HUMAN,Q1M2R8_HUMAN,Q0MSI1_HUMAN,O78086_HUMAN,O78085_HUMAN,O78081_HUMAN,O19689_HUMAN,L7PHV2_HUMAN,L7PHU7_HUMAN,L7PH13_HUMAN,L0BVP5_HUMAN,K9LDJ0_HUMAN,K9LCM8_HUMAN,K9L7Y8_HUMAN,K7WPD7_HUMAN,K7P600_HUMAN,K7P5W6_HUMAN,K7P5U2_HUMAN,K7P5E0_HUMAN,K7P5B6_HUMAN,K7P562_HUMAN,K7P558_HUMAN,J9UP83_HUMAN,J9TNR8_HUMAN,J9PWV5_HUMAN,J9PWL3_HUMAN,J7GM07_HUMAN,J7FNZ2_HUMAN,J7F8L2_HUMAN,I6SJ64_HUMAN,I6QU16_HUMAN,I6NS25_HUMAN,I6NS19_HUMAN,I3UI58_HUMAN,I3UI47_HUMAN,I3QHQ4_HUMAN,I2B2Z9_HUMAN,I1W1L8_HUMAN,H9BQ78_HUMAN,H6UV72_HUMAN,H6UV69_HUMAN,H6UV68_HUMAN,H2BE80_HUMAN,H2BDP5_HUMAN,G9I2J6_HUMAN,G9HW24_HUMAN,G3DR81_HUMAN,G1EPB1_HUMAN,G1EP98_HUMAN,G1EP96_HUMAN,G1EP95_HUMAN,G1EP88_HUMAN,G1EP78_HUMAN,G1EP71_HUMAN,G1EP55_HUMAN,G1EP50_HUMAN,G1EP19_HUMAN,G1EP18_HUMAN,G1EP05_HUMAN,G1ENY5_HUMAN,G1DUW4_HUMAN,G0ZMG9_HUMAN,G0ZMG4_HUMAN,G0ZMG3_HUMAN,G0ZMF4_HUMAN,G0ZDS9_HUMAN,G0WVA6_HUMAN,G0WVA0_HUMAN,F8RHD1_HUMAN,F8RHC2_HUMAN,F8RHB9_HUMAN,F8R8I1_HUMAN,F8R119_HUMAN,F8R110_HUMAN,F6KRP1_HUMAN,F6KRM4_HUMAN,F6IQV7_HUMAN,F4YU26_HUMAN,F4YU20_HUMAN,F2X604_HUMAN,F2X5Y0_HUMAN,F2X5X9_HUMAN,F2VNH3_HUMAN,F2VNH0_HUMAN,F2VNG0_HUMAN,F2VNF7_HUMAN,F2VNF2_HUMAN,F2VNE0_HUMAN,F2VND0_HUMAN,F2VNC4_HUMAN,E9LY14_HUMAN,E9LY02_HUMAN,E9LY00_HUMAN,E8ZF52_HUMAN,E7BY93_HUMAN,E7BY85_HUMAN,E7BBA1_HUMAN,E5DCM4_HUMAN,E5DCM2_HUMAN,E5DCM0_HUMAN,E3SG86_HUMAN,E2DH82_HUMAN,E2D5M3_HUMAN,E2D5L9_HUMAN,E2D5K9_HUMAN,E0YTI8_HUMAN,E0YTI1_HUMAN,E0X9K2_HUMAN,E0WBX4_HUMAN,E0WBX1_HUMAN,D7NSP0_HUMAN,D7NPA3_HUMAN,D7NP98_HUMAN,D7NP92_HUMAN,D7NNU1_HUMAN,D7NNT9_HUMAN,D7NNT6_HUMAN,D7NNT3_HUMAN,D7NNS2_HUMAN,D7NNR5_HUMAN,D7NNM6_HUMAN,D6MLN9_HUMAN,D6MLN3_HUMAN,D6MLM4_HUMAN,D6MLL1_HUMAN,D6MLK2_HUMAN,D6MLJ4_HUMAN,D6MLJ1_HUMAN,D6ML56_HUMAN,D6ML55_HUMAN,D6ML54_HUMAN,D6ML44_HUMAN,D6ML42_HUMAN,D6ML40_HUMAN,D6ML35_HUMAN,D6ML33_HUMAN,D6ML18_HUMAN,D6ML16_HUMAN,D6ML10_HUMAN,D6ML09_HUMAN,D6ML06_HUMAN,D6ML01_HUMAN,D6MKY9_HUMAN,D6MJF7_HUMAN,D5M8G4_HUMAN,D5M8G1_HUMAN,D5M8E4_HUMAN,D5G2J2_HUMAN,D5FIG9_HUMAN,D5FHQ9_HUMAN,D5FHN7_HUMAN,D5FHM5_HUMAN,D5FHM3_HUMAN,D5FHM1_HUMAN,D5FHK5_HUMAN,D5FHG0_HUMAN,D3U484_HUMAN,D3U454_HUMAN,D3U442_HUMAN,D1MYY8_HUMAN,D0RAY3_HUMAN,D0EZK0_HUMAN,D0EZJ9_HUMAN,D0AB29_HUMAN,C9WEL3_HUMAN,C9WEL2_HUMAN,C9WEL1_HUMAN,C9E1E8_HUMAN,C9E1E7_HUMAN,C8XTP8_HUMAN,C8XTP7_HUMAN,C8XTN9_HUMAN,C8XTN7_HUMAN,C8CH66_HUMAN,C6K4J6_HUMAN,C6K4I6_HUMAN,C6K4I1_HUMAN,C6K4H8_HUMAN,C6K4H3_HUMAN,C6K4H0_HUMAN,C6K4G0_HUMAN,C6K4E3_HUMAN,C5J029_HUMAN,C5J027_HUMAN,C5IZR4_HUMAN,C5IZQ3_HUMAN,C4PFZ1_HUMAN,B8YCR7_HUMAN,B8XRE8_HUMAN,B6VA02_HUMAN,B6ECH2_HUMAN,B4DVC4_HUMAN,B1PKY1_HUMAN,A7MAP4_HUMAN,A5PHP7_HUMAN,A0ZXY8_HUMAN	.	UPI000008AB1D	SNV	HLA-A,missense_variant,p.Ala16Pro,ENST00000396634,;HLA-A,missense_variant,p.Ala16Pro,ENST00000376806,;HLA-A,missense_variant,p.Ala16Pro,ENST00000376809,;HLA-A,missense_variant,p.Ala16Pro,ENST00000376802,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HCG4P5,non_coding_transcript_exon_variant,,ENST00000429656,;	387	62	43	SUCCESS
ZNF318	24149	.	GRCh37	6	43323547	43323547	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762724055	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	58	0	ENST00000361428.2:c.1525C>T	p.Arg509Cys	p.R509C	ENST00000361428	NM_014345.2	509	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4895.2	1525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCGGGAAA	NONE	byFrequency	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	4/10	.	.	.	.	.	.	.	.	rs762724055,COSM3351700,COSM3715550	4/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.046)	.	.	0,1,1	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Arg509Cys,ENST00000361428,;ZNF318,missense_variant,p.Arg509Cys,ENST00000318149,;ZNF318,missense_variant,p.Arg509Cys,ENST00000605935,;	1603	58	91	SUCCESS
IQUB	154865	.	GRCh37	7	123101527	123101527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	62	0	ENST00000324698.6:c.1891C>A	p.Leu631Ile	p.L631I	ENST00000324698	NM_178827.4	631	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS5787.1	1891	RADIA|VARSCANS	.	CTGAAGGTTAA	NONE	.	.	hmmpanther:PTHR21074:SF0,hmmpanther:PTHR21074	.	.	ENSP00000417769	.	11/13	.	.	.	.	.	.	.	.	.	11/13	oxog	ENST00000466202	Transcript	.	.	ENSG00000164675	21995	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.831)	.	deleterious(0.03)	.	IQUB_HUMAN	IQUB	HGNC	.	.	UPI000013E3DF	SNV	IQUB,missense_variant,p.Leu631Ile,ENST00000324698,;IQUB,missense_variant,p.Leu631Ile,ENST00000466202,;IQUB,downstream_gene_variant,,ENST00000434450,;RNU6-296P,upstream_gene_variant,,ENST00000384608,;RP11-332K15.1,downstream_gene_variant,,ENST00000419832,;IQUB,3_prime_UTR_variant,,ENST00000484508,;IQUB,3_prime_UTR_variant,,ENST00000469057,;	2468	62	32	SUCCESS
ASIC3	9311	.	GRCh37	7	150746506	150746506	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs754745451	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	13	0	ENST00000349064.5:c.534G>A		p.X178_splice	ENST00000349064	NM_004769.3	178	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5915.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	ACCACGGTGAG	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF14,Gene3D:2qtsA02,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	.	.	ENSP00000297512	.	1/11	.	.	.	.	.	.	.	.	rs754745451	1/11	PASS	ENST00000297512	Transcript	.	.	ENSG00000213199	101	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASIC3_HUMAN	ASIC3	HGNC	.	.	UPI00000300F6	SNV	ASIC3,synonymous_variant,p.%3D,ENST00000349064,;ASIC3,synonymous_variant,p.%3D,ENST00000357922,;ASIC3,synonymous_variant,p.%3D,ENST00000297512,;ABCB8,downstream_gene_variant,,ENST00000356058,;ABCB8,downstream_gene_variant,,ENST00000297504,;CDK5,downstream_gene_variant,,ENST00000485972,;ABCB8,downstream_gene_variant,,ENST00000498578,;ABCB8,downstream_gene_variant,,ENST00000358849,;CDK5,downstream_gene_variant,,ENST00000297518,;ASIC3,upstream_gene_variant,,ENST00000490540,;ABCB8,downstream_gene_variant,,ENST00000542328,;ASIC3,upstream_gene_variant,,ENST00000485929,;ASIC3,synonymous_variant,p.%3D,ENST00000377904,;ASIC3,synonymous_variant,p.%3D,ENST00000468325,;ASIC3,upstream_gene_variant,,ENST00000498105,;ABCB8,downstream_gene_variant,,ENST00000482309,;ABCB8,downstream_gene_variant,,ENST00000466514,;ASIC3,upstream_gene_variant,,ENST00000474135,;ABCB8,downstream_gene_variant,,ENST00000482899,;	534	13	14	SUCCESS
ABCA13	154664	.	GRCh37	7	48443391	48443391	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	44	0	ENST00000435803.1:c.11985G>T	p.Arg3995Ser	p.R3995S	ENST00000435803	NM_152701.3	3995	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS47584.1	11985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGGACCGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	39/62	.	.	.	.	.	.	.	.	.	39/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Arg3995Ser,ENST00000435803,;ABCA13,missense_variant,p.Arg261Ser,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	12009	44	43	SUCCESS
ABCB1	5243	.	GRCh37	7	87214868	87214868	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	46	0	ENST00000265724.3:c.246del	p.Gly83GlufsTer3	p.G83Efs*3	ENST00000265724	NM_000927.4	82	gcA/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS5608.1	246	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTCCTGCATT	NONE	.	.	PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265724	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	deletion	ABCB1,frameshift_variant,p.Gly83GlufsTer3,ENST00000265724,;ABCB1,frameshift_variant,p.Gly83GlufsTer3,ENST00000543898,;ABCB1,downstream_gene_variant,,ENST00000416177,;	664	46	37	SUCCESS
SUN1	23353	.	GRCh37	7	909049	909049	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	22	0	ENST00000401592.1:c.2044C>T	p.Leu682Phe	p.L682F	ENST00000401592	NM_001130965.2	682	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47525.1	2044	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCTCTCC	NONE	.	.	PROSITE_profiles:PS51469,hmmpanther:PTHR12911:SF18,hmmpanther:PTHR12911,Pfam_domain:PF07738	.	.	ENSP00000384015	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000401592	Transcript	.	.	ENSG00000164828	18587	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SUN1_HUMAN	SUN1	HGNC	Q5S4N2_HUMAN,C9K051_HUMAN,C9JS54_HUMAN,C9JR15_HUMAN,C9JK55_HUMAN,C9JJU6_HUMAN	.	UPI000020E965	SNV	SUN1,missense_variant,p.Leu579Phe,ENST00000452783,;SUN1,missense_variant,p.Leu871Phe,ENST00000456758,;SUN1,missense_variant,p.Leu531Phe,ENST00000433212,;SUN1,missense_variant,p.Leu607Phe,ENST00000429178,;SUN1,missense_variant,p.Leu719Phe,ENST00000405266,;SUN1,missense_variant,p.Leu599Phe,ENST00000425407,;SUN1,missense_variant,p.Leu682Phe,ENST00000401592,;SUN1,missense_variant,p.Leu480Phe,ENST00000413514,;SUN1,missense_variant,p.Leu599Phe,ENST00000389574,;SUN1,non_coding_transcript_exon_variant,,ENST00000413171,;SUN1,non_coding_transcript_exon_variant,,ENST00000475971,;SUN1,non_coding_transcript_exon_variant,,ENST00000497943,;SUN1,intron_variant,,ENST00000457861,;	2068	22	20	SUCCESS
RP1L1	94137	.	GRCh37	8	10470139	10470139	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs578108515	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	24	0	ENST00000382483.3:c.1469G>T	p.Gly490Val	p.G490V	ENST00000382483	NM_178857.5	490	gGg/gTg	0	.	T:0	.	T:0	.	A	G/V	protein_coding	YES	CCDS43708.1	1469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCTATC	NONE	by1000G	.	hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	T:0	.	ENSP00000371923	T:0	4/4	.	.	.	.	.	.	.	.	rs578108515,COSM355303	4/4	PASS	ENST00000382483	Transcript	1	T:0.0002	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.791)	T:0.001	.	0,1	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Gly490Val,ENST00000382483,;	1693	24	31	SUCCESS
SLC35G5	83650	.	GRCh37	8	11189305	11189305	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	54	0	ENST00000382435.4:c.690G>A	p.Gly230=	p.G230=	ENST00000382435	NM_054028.1	230	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5980.1	690	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTGGGGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911,Pfam_domain:PF00892	.	.	ENSP00000371872	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382435	Transcript	.	.	ENSG00000177710	15546	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S35G5_HUMAN	SLC35G5	HGNC	.	.	UPI0000071B8F	SNV	SLC35G5,synonymous_variant,p.%3D,ENST00000382435,;MTMR9,downstream_gene_variant,,ENST00000221086,;	909	54	43	SUCCESS
FGL1	2267	.	GRCh37	8	17743026	17743026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	26	0	ENST00000381840.2:c.38C>A	p.Ala13Asp	p.A13D	ENST00000381840	NM_147203.2	13	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS6004.1	38	RADIA|VARSCANS	.	TCAGAGCGGTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19143	.	.	ENSP00000381133	.	4/10	.	.	.	.	.	.	.	.	.	4/10	oxog	ENST00000398056	Transcript	.	.	ENSG00000104760	3695	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.209)	.	tolerated(0.15)	.	FGL1_HUMAN	FGL1	HGNC	.	.	UPI0000169E8B	SNV	FGL1,missense_variant,p.Ala13Asp,ENST00000518650,;FGL1,missense_variant,p.Ala13Asp,ENST00000522444,;FGL1,missense_variant,p.Ala13Asp,ENST00000398056,;FGL1,missense_variant,p.Ala13Asp,ENST00000398054,;FGL1,missense_variant,p.Ala13Asp,ENST00000381841,;FGL1,missense_variant,p.Ala13Asp,ENST00000381840,;FGL1,missense_variant,p.Ala13Asp,ENST00000427924,;RP11-156K13.2,downstream_gene_variant,,ENST00000519368,;FGL1,downstream_gene_variant,,ENST00000518769,;FGL1,upstream_gene_variant,,ENST00000523097,;	854	26	35	SUCCESS
INTS10	55174	.	GRCh37	8	19682357	19682358	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	52	0	ENST00000397977.3:c.881dup	p.Tyr294Ter	p.Y294*	ENST00000397977	NM_018142.2	294	tac/tAac	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS6011.2	880-881	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGATACATG	NONE	.	.	hmmpanther:PTHR16055	.	.	ENSP00000381064	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000397977	Transcript	.	.	ENSG00000104613	25548	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INT10_HUMAN	INTS10	HGNC	E5RJN5_HUMAN	.	UPI0000210A61	insertion	INTS10,stop_gained,p.Tyr70Ter,ENST00000523846,;INTS10,stop_gained,p.Tyr294Ter,ENST00000397977,;INTS10,intron_variant,,ENST00000522806,;INTS10,downstream_gene_variant,,ENST00000521758,;INTS10,stop_gained,p.Tyr4Ter,ENST00000521357,;INTS10,non_coding_transcript_exon_variant,,ENST00000523143,;INTS10,downstream_gene_variant,,ENST00000522114,;INTS10,downstream_gene_variant,,ENST00000522081,;INTS10,downstream_gene_variant,,ENST00000523869,;	1278-1279	52	73	SUCCESS
PTPN3	5774	.	GRCh37	9	112145782	112145782	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	43	0	ENST00000374541.2:c.2303del	p.Gly768AlafsTer34	p.G768Afs*34	ENST00000374541	NM_001145368.1	768	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS6776.1	2303	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCCGCCGTGG	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF52799	.	.	ENSP00000363667	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000374541	Transcript	.	.	ENSG00000070159	9655	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTN3_HUMAN	PTPN3	HGNC	B7Z8K9_HUMAN	.	UPI000013D2D2	deletion	PTPN3,frameshift_variant,p.Gly592AlafsTer34,ENST00000446349,;PTPN3,frameshift_variant,p.Gly637AlafsTer34,ENST00000412145,;PTPN3,frameshift_variant,p.Gly236AlafsTer34,ENST00000394827,;PTPN3,frameshift_variant,p.Gly614AlafsTer34,ENST00000262539,;PTPN3,frameshift_variant,p.Gly768AlafsTer34,ENST00000374541,;PTPN3,upstream_gene_variant,,ENST00000447271,;	2408	43	33	SUCCESS
TOR2A	27433	.	GRCh37	9	130494466	130494466	+	synonymous_variant	Silent	SNP	G	G	A	rs370306195	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	72	0	ENST00000373284.5:c.813C>T	p.Cys271=	p.C271=	ENST00000373284	NM_001085347.2	271	tgC/tgT	0	.	A:0	.	A:0.0014	.	A	C	protein_coding	YES	CCDS43879.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACGCAGTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10760:SF4,hmmpanther:PTHR10760,PIRSF_domain:PIRSF038079,Superfamily_domains:SSF52540	A:0	.	ENSP00000362381	A:0	5/5	.	.	.	.	.	.	.	.	rs370306195	5/5	PASS	ENST00000373284	Transcript	.	A:0.0002	ENSG00000160404	11996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TOR2A_HUMAN	TOR2A	HGNC	.	.	UPI00004A3A6C	SNV	TOR2A,missense_variant,p.Arg229Cys,ENST00000336067,;TOR2A,synonymous_variant,p.%3D,ENST00000373284,;TOR2A,3_prime_UTR_variant,,ENST00000458505,;TOR2A,3_prime_UTR_variant,,ENST00000373281,;TTC16,downstream_gene_variant,,ENST00000373289,;TOR2A,non_coding_transcript_exon_variant,,ENST00000463256,;TOR2A,non_coding_transcript_exon_variant,,ENST00000494135,;TOR2A,non_coding_transcript_exon_variant,,ENST00000496460,;TOR2A,non_coding_transcript_exon_variant,,ENST00000472723,;TOR2A,non_coding_transcript_exon_variant,,ENST00000493439,;TOR2A,non_coding_transcript_exon_variant,,ENST00000463577,;TTC16,downstream_gene_variant,,ENST00000488285,;TTC16,downstream_gene_variant,,ENST00000489226,;	860	72	42	SUCCESS
OCRL	4952	.	GRCh37	X	128722192	128722192	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	26	26	0	ENST00000371113.4:c.2293C>T	p.Leu765Phe	p.L765F	ENST00000371113	NM_000276.3	765	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS35393.1	2293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGCTCCAG	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000360154	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000371113	Transcript	.	.	ENSG00000122126	8108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.97)	.	OCRL_HUMAN	OCRL	HGNC	.	.	UPI0000167B0B	SNV	OCRL,missense_variant,p.Leu765Phe,ENST00000371113,;OCRL,missense_variant,p.Leu757Phe,ENST00000357121,;OCRL,upstream_gene_variant,,ENST00000463271,;	2458	26	32	SUCCESS
GPR34	2857	.	GRCh37	X	41555141	41555141	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	46	46	0	ENST00000378138.5:c.255A>G	p.Lys85=	p.K85=	ENST00000378138		85	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS14258.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAAAAGAAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24233:SF1,hmmpanther:PTHR24233,PROSITE_profiles:PS50262	.	.	ENSP00000367384	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000378142	Transcript	.	.	ENSG00000171659	4490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR34_HUMAN	GPR34	HGNC	Q5VT14_HUMAN,Q3SAH0_HUMAN	.	UPI000005044D	SNV	GPR34,synonymous_variant,p.%3D,ENST00000378138,;GPR34,synonymous_variant,p.%3D,ENST00000378142,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;	539	46	96	SUCCESS
MED12	9968	.	GRCh37	X	70338632	70338632	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	42	76	0	ENST00000374080.3:c.28G>C	p.Glu10Gln	p.E10Q	ENST00000374080		10	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS43970.1	28	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACGAACAC	NONE	.	.	.	.	.	ENSP00000363193	.	1/45	.	.	.	.	.	.	.	.	.	1/45	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	SNV	MED12,missense_variant,p.Glu10Gln,ENST00000374102,;MED12,missense_variant,p.Glu10Gln,ENST00000333646,;MED12,missense_variant,p.Glu10Gln,ENST00000374080,;MED12,upstream_gene_variant,,ENST00000429213,;	60	76	56	SUCCESS
AKR1C2	1646	.	GRCh37	10	5043738	5043738	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	13	200	0	ENST00000380753.4:c.220G>A	p.Val74Met	p.V74M	ENST00000380753	NM_205845.2	74	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS7062.1	220	MUTECT|MUSE	.	CTTCACACTGC	NONE	.	.	Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732	.	.	ENSP00000370129	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000380753	Transcript	1	.	ENSG00000151632	385	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	AK1C2_HUMAN	AKR1C2	HGNC	S4R3P0_HUMAN	.	UPI0000111D9F	SNV	AKR1C2,missense_variant,p.Val74Met,ENST00000604507,;AKR1C2,missense_variant,p.Val74Met,ENST00000380753,;AKR1C2,missense_variant,p.Val74Met,ENST00000455190,;AKR1C2,missense_variant,p.Val74Met,ENST00000421196,;AKR1C2,missense_variant,p.Val74Met,ENST00000407674,;U8,upstream_gene_variant,,ENST00000459141,;RP11-499O7.7,downstream_gene_variant,,ENST00000451575,;RP11-499O7.7,downstream_gene_variant,,ENST00000440414,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000604184,;AKR1C2,downstream_gene_variant,,ENST00000604428,;AKR1C2,downstream_gene_variant,,ENST00000604711,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000460124,;	408	200	220	SUCCESS
PHYHIPL	84457	.	GRCh37	10	61005153	61005174	+	frameshift_variant	Frame_Shift_Del	DEL	GACCTGTACAGAAGAAGATGGG	GACCTGTACAGAAGAAGATGGG	-	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	GACCTGTACAGAAGAAGATGGG	GACCTGTACAGAAGAAGATGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	76	20	126	0	ENST00000373880.4:c.934_955del	p.Thr312CysfsTer12	p.T312Cfs*12	ENST00000373880	NM_032439.3	311	ttGACCTGTACAGAAGAAGATGGG/tt	0	.	.	.	.	.	-	LTCTEEDG/X	protein_coding	YES	CCDS7254.1	933-954	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTTTGACCTGTACAGAAGAAGATGGGGTGCT	NONE	.	.	hmmpanther:PTHR15698:SF6,hmmpanther:PTHR15698	.	.	ENSP00000362987	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000373880	Transcript	.	.	ENSG00000165443	29378	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHIPL_HUMAN	PHYHIPL	HGNC	.	.	UPI0000199879	deletion	PHYHIPL,frameshift_variant,p.Thr286CysfsTer12,ENST00000373878,;PHYHIPL,frameshift_variant,p.Thr312CysfsTer12,ENST00000373880,;FAM13C,downstream_gene_variant,,ENST00000419214,;FAM13C,downstream_gene_variant,,ENST00000468840,;FAM13C,downstream_gene_variant,,ENST00000373868,;FAM13C,downstream_gene_variant,,ENST00000277705,;FAM13C,downstream_gene_variant,,ENST00000442566,;FAM13C,downstream_gene_variant,,ENST00000373867,;FAM13C,downstream_gene_variant,,ENST00000489341,;PHYHIPL,3_prime_UTR_variant,,ENST00000486074,;FAM13C,downstream_gene_variant,,ENST00000513059,;	1197-1218	126	96	SUCCESS
LYVE1	10894	.	GRCh37	11	10580711	10580711	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1003761554	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	98	317	0	ENST00000256178.3:c.916G>A	p.Glu306Lys	p.E306K	ENST00000256178	NM_006691.3	306	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7804.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTTCTG	NONE	.	.	hmmpanther:PTHR10225	.	.	ENSP00000256178	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000256178	Transcript	.	.	ENSG00000133800	14687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	LYVE1_HUMAN	LYVE1	HGNC	B2R672_HUMAN	.	UPI00000389CD	SNV	LYVE1,missense_variant,p.Glu306Lys,ENST00000256178,;LYVE1,missense_variant,p.Glu202Lys,ENST00000529598,;MRVI1-AS1,intron_variant,,ENST00000529829,;MRVI1-AS1,intron_variant,,ENST00000529979,;LYVE1,downstream_gene_variant,,ENST00000531706,;LYVE1,3_prime_UTR_variant,,ENST00000438354,;	1075	317	327	SUCCESS
OR51I1	390063	.	GRCh37	11	5462320	5462320	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138548705	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	80	1	ENST00000380211.1:c.425G>A	p.Arg142His	p.R142H	ENST00000380211	NM_001005288.2	142	cGt/cAt	0	T:0.0002	T:0	.	T:0.0014	.	T	R/H	protein_coding	YES	CCDS31382.1	425	RADIA|MUTECT|MUSE	.	ATATACGGTTG	BUFFER|p.N141S|c.422A>G|3	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF66,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	T:0	T:0	ENSP00000369559	T:0	1/1	.	.	.	.	.	.	.	.	rs138548705,COSM1239685	1/1	PASS	ENST00000380211	Transcript	.	T:0.0002	ENSG00000167359	15200	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.025)	T:0	tolerated(0.12)	0,1	O51I1_HUMAN	OR51I1	HGNC	.	.	UPI0000041CD0	SNV	OR51I1,missense_variant,p.Arg142His,ENST00000380211,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	425	81	88	SUCCESS
DDB1	1642	.	GRCh37	11	61100449	61100449	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	20	0	ENST00000301764.7:c.-9A>G		p.*3*	ENST00000301764	NM_001923.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31576.1	.	RADIA|MUSE	.	GAGGCTTGGAG	NONE	.	.	.	.	.	ENSP00000301764	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000301764	Transcript	.	.	ENSG00000167986	2717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDB1_HUMAN	DDB1	HGNC	F8WF81_HUMAN,F5H775_HUMAN,F5H6C5_HUMAN,F5H581_HUMAN,F5H2L3_HUMAN,F5H0Y5_HUMAN,F5GZY8_HUMAN,F5GZ34_HUMAN,F5GYG8_HUMAN	.	UPI0000000CB7	SNV	DDB1,5_prime_UTR_variant,,ENST00000543627,;DDB1,5_prime_UTR_variant,,ENST00000543658,;DDB1,5_prime_UTR_variant,,ENST00000542337,;DDB1,5_prime_UTR_variant,,ENST00000301764,;DDB1,5_prime_UTR_variant,,ENST00000450997,;DAK,upstream_gene_variant,,ENST00000524968,;DDB1,upstream_gene_variant,,ENST00000539426,;DAK,upstream_gene_variant,,ENST00000529479,;DDB1,upstream_gene_variant,,ENST00000535283,;DAK,upstream_gene_variant,,ENST00000394900,;DAK,upstream_gene_variant,,ENST00000532173,;DDB1,non_coding_transcript_exon_variant,,ENST00000543162,;DAK,upstream_gene_variant,,ENST00000530456,;DAK,upstream_gene_variant,,ENST00000530057,;DAK,upstream_gene_variant,,ENST00000525170,;DAK,upstream_gene_variant,,ENST00000529620,;DAK,upstream_gene_variant,,ENST00000533393,;DDB1,5_prime_UTR_variant,,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000537120,;DAK,upstream_gene_variant,,ENST00000529121,;DDB1,upstream_gene_variant,,ENST00000538129,;DAK,upstream_gene_variant,,ENST00000531820,;	390	20	16	SUCCESS
ANO4	121601	.	GRCh37	12	101333093	101333093	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	35	155	0	ENST00000392977.3:c.161T>A	p.Met54Lys	p.M54K	ENST00000392977	NM_001286615.1	54	aTg/aAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS31884.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGTGGCCA	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.25)	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,missense_variant,p.Met220Lys,ENST00000538618,;ANO4,missense_variant,p.Met54Lys,ENST00000392977,;ANO4,missense_variant,p.Val19Glu,ENST00000392979,;ANO4,splice_region_variant,,ENST00000299222,;ANO4,missense_variant,p.Met54Lys,ENST00000549155,;	417	155	161	SUCCESS
TMEM132C	92293	.	GRCh37	12	129190073	129190073	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1244363099	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	33	0	ENST00000435159.2:c.2560C>T	p.Arg854Ter	p.R854*	ENST00000435159	NM_001136103.2	854	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	.	2560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCGAAGA	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4	.	.	ENSP00000410852	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000435159	Transcript	.	.	ENSG00000181234	25436	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T132C_HUMAN	TMEM132C	HGNC	F5H439_HUMAN,E9PC33_HUMAN	.	UPI0001C0B37C	SNV	TMEM132C,stop_gained,p.Arg239Ter,ENST00000537538,;TMEM132C,stop_gained,p.Arg470Ter,ENST00000315208,;TMEM132C,stop_gained,p.Arg854Ter,ENST00000435159,;	2560	33	23	SUCCESS
CEP290	80184	.	GRCh37	12	88478474	88478474	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	61	145	0	ENST00000552810.1:c.4593T>G	p.Ser1531=	p.S1531=	ENST00000552810	NM_025114.3	1531	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS55858.1	4593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGAGATTT	NONE	.	.	hmmpanther:PTHR18879	.	.	ENSP00000448012	.	35/54	.	.	.	.	.	.	.	.	.	35/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,synonymous_variant,p.%3D,ENST00000552810,;CEP290,synonymous_variant,p.%3D,ENST00000397838,;CEP290,synonymous_variant,p.%3D,ENST00000309041,;CEP290,synonymous_variant,p.%3D,ENST00000547691,;	4937	145	174	SUCCESS
RB1	5925	.	GRCh37	13	48954378	48954378	+	splice_donor_variant	Splice_Site	DEL	G	G	-	.	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	104	0	ENST00000267163.4:c.1498+1del		p.X500_splice	ENST00000267163	NM_000321.2	500		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31973.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAGCAGTAAGT	NONE	.	.	.	.	.	ENSP00000267163	.	.	.	.	.	.	.	.	.	.	CS058010	.	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	16/26	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	deletion	RB1,splice_donor_variant,,ENST00000267163,;	.	104	141	SUCCESS
ADSSL1	0	.	GRCh37	14	105196358	105196358	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	45	0	ENST00000332972.5:c.129T>C	p.Ser43=	p.S43=	ENST00000332972	NM_199165.1	43	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9991.1	129	RADIA|MUSE	.	AGGAGTCTCCA	BUFFER|p.L46L|c.136T>C|3	.	.	HAMAP:MF_00011	.	.	ENSP00000333019	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000332972	Transcript	.	.	ENSG00000185100	20093	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PURA1_HUMAN	ADSSL1	HGNC	G3V5D8_HUMAN,B3KTV4_HUMAN	.	UPI00001D6A2D	SNV	ADSSL1,synonymous_variant,p.%3D,ENST00000332972,;ADSSL1,intron_variant,,ENST00000330877,;ADSSL1,synonymous_variant,p.%3D,ENST00000553540,;ADSSL1,intron_variant,,ENST00000555486,;	288	45	46	SUCCESS
MEX3B	84206	.	GRCh37	15	82336764	82336764	+	synonymous_variant	Silent	SNP	G	G	T	rs772274350	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	15	56	0	ENST00000329713.4:c.447C>A	p.Gly149=	p.G149=	ENST00000329713	NM_032246.4	149	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10319.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCGCCGTT	NONE	byFrequency	.	hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5	.	.	ENSP00000329918	.	2/2	.	.	.	.	.	.	.	.	rs772274350	2/2	PASS	ENST00000329713	Transcript	.	.	ENSG00000183496	25297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEX3B_HUMAN	MEX3B	HGNC	.	.	UPI00001982CC	SNV	MEX3B,synonymous_variant,p.%3D,ENST00000329713,;MEX3B,3_prime_UTR_variant,,ENST00000558133,;AC026956.1,downstream_gene_variant,,ENST00000410589,;	883	56	27	SUCCESS
MEX3B	84206	.	GRCh37	15	82336765	82336765	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	15	56	0	ENST00000329713.4:c.446G>A	p.Gly149Asp	p.G149D	ENST00000329713	NM_032246.4	149	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS10319.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGCCGTTG	NONE	.	.	hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5	.	.	ENSP00000329918	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329713	Transcript	.	.	ENSG00000183496	25297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.691)	.	deleterious(0)	.	MEX3B_HUMAN	MEX3B	HGNC	.	.	UPI00001982CC	SNV	MEX3B,missense_variant,p.Gly149Asp,ENST00000329713,;MEX3B,3_prime_UTR_variant,,ENST00000558133,;AC026956.1,downstream_gene_variant,,ENST00000410589,;	882	56	27	SUCCESS
C16orf90	646174	.	GRCh37	16	3543984	3543984	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866347257	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	21	0	ENST00000437192.3:c.404C>T	p.Ser135Phe	p.S135F	ENST00000437192	NM_001080524.1	135	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS45397.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGAAGCT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15486	.	.	ENSP00000401335	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000437192	Transcript	.	.	ENSG00000215131	34455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious_low_confidence(0)	.	CP090_HUMAN	C16orf90	HGNC	.	.	UPI00006C1606	SNV	C16orf90,missense_variant,p.Ser135Phe,ENST00000437192,;C16orf90,missense_variant,p.Ser144Phe,ENST00000399645,;LA16c-306E5.3,intron_variant,,ENST00000574423,;LA16c-306E5.1,upstream_gene_variant,,ENST00000459875,;	407	21	20	SUCCESS
TRAP1	10131	.	GRCh37	16	3713391	3713391	+	intron_variant	Intron	SNP	C	C	A	rs770499760	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	43	0	ENST00000246957.5:c.1708+34G>T		p.*570*	ENST00000246957	NM_016292.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10508.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACCAGCC	NONE	byFrequency	.	.	.	.	ENSP00000246957	.	.	.	.	.	.	.	.	.	.	rs770499760	.	PASS	ENST00000246957	Transcript	.	.	ENSG00000126602	16264	.	.	MODIFIER	14/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAP1_HUMAN	TRAP1	HGNC	I3L0P6_HUMAN,I3L0K7_HUMAN	.	UPI000013CC0A	SNV	DNASE1,intron_variant,,ENST00000414110,;TRAP1,intron_variant,,ENST00000575671,;TRAP1,intron_variant,,ENST00000538171,;DNASE1,intron_variant,,ENST00000575479,;TRAP1,intron_variant,,ENST00000246957,;TRAP1,downstream_gene_variant,,ENST00000576335,;DNASE1,non_coding_transcript_exon_variant,,ENST00000575152,;TRAP1,downstream_gene_variant,,ENST00000573872,;DNASE1,intron_variant,,ENST00000571460,;TRAP1,upstream_gene_variant,,ENST00000574494,;TRAP1,upstream_gene_variant,,ENST00000575707,;	.	43	43	SUCCESS
BRD7	29117	.	GRCh37	16	50357553	50357553	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	50	103	0	ENST00000394688.3:c.1388T>A	p.Leu463Ter	p.L463*	ENST00000394688		463	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS54007.1	1388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTAAACTA	NONE	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,stop_gained,p.Leu463Ter,ENST00000394688,;BRD7,stop_gained,p.Leu463Ter,ENST00000394689,;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;	1393	103	96	SUCCESS
TAF15	8148	.	GRCh37	17	34136530	34136530	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	14	0	ENST00000588240.1:c.-44T>A		p.*15*	ENST00000588240	NM_139215.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32623.1	.	SOMATICSNIPER|MUTECT|MUSE	.	TTCGTTGTTCT	NONE	.	.	.	.	.	ENSP00000466950	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000588240	Transcript	.	.	ENSG00000172660	11547	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBP56_HUMAN	TAF15	HGNC	Q86X94_HUMAN,K7EJB3_HUMAN	.	UPI000013317D	SNV	TAF15,5_prime_UTR_variant,,ENST00000588240,;TAF15,5_prime_UTR_variant,,ENST00000588441,;TAF15,5_prime_UTR_variant,,ENST00000590273,;TAF15,5_prime_UTR_variant,,ENST00000311979,;TAF15,5_prime_UTR_variant,,ENST00000587272,;TAF15,5_prime_UTR_variant,,ENST00000592237,;AC015849.12,upstream_gene_variant,,ENST00000588414,;TAF15,5_prime_UTR_variant,,ENST00000590051,;TAF15,non_coding_transcript_exon_variant,,ENST00000591527,;TAF15,non_coding_transcript_exon_variant,,ENST00000591957,;TAF15,non_coding_transcript_exon_variant,,ENST00000592969,;	72	14	14	SUCCESS
BCL2	596	.	GRCh37	18	60795937	60795937	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	73	0	ENST00000333681.4:c.641G>A	p.Trp214Ter	p.W214*	ENST00000333681		214	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS11981.1	641	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCAGGAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11256:SF11,hmmpanther:PTHR11256,TIGRFAM_domain:TIGR00865,Gene3D:1.10.437.10,Superfamily_domains:SSF56854,Prints_domain:PR01863	.	.	ENSP00000381185	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398117	Transcript	.	.	ENSG00000171791	990	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BCL2_HUMAN	BCL2	HGNC	Q96PA0_HUMAN	.	UPI000000D90E	SNV	BCL2,stop_gained,p.Trp214Ter,ENST00000333681,;BCL2,stop_gained,p.Trp214Ter,ENST00000398117,;BCL2,non_coding_transcript_exon_variant,,ENST00000590515,;	2103	73	93	SUCCESS
OR1I1	126370	.	GRCh37	19	15198366	15198366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	86	0	ENST00000209540.2:c.490G>A	p.Ala164Thr	p.A164T	ENST00000209540	NM_001004713.1	164	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32937.1	490	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGCTCAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF121,PROSITE_profiles:PS50262	.	.	ENSP00000209540	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000209540	Transcript	.	.	ENSG00000094661	8207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.669)	.	tolerated(0.24)	.	OR1I1_HUMAN	OR1I1	HGNC	.	.	UPI0000130B3E	SNV	OR1I1,missense_variant,p.Ala164Thr,ENST00000209540,;	576	86	64	SUCCESS
KIAA1683	0	.	GRCh37	19	18368567	18368567	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780183473	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	40	0	ENST00000392413.4:c.3527G>A	p.Arg1176His	p.R1176H	ENST00000392413	NM_001145304.1	1176	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS46017.1	3527	RADIA|MUTECT|MUSE	.	CCCGGCGGGTG	NONE	byFrequency	.	PROSITE_profiles:PS50096,hmmpanther:PTHR22590:SF1,hmmpanther:PTHR22590,Pfam_domain:PF00612,SMART_domains:SM00015,Superfamily_domains:SSF52540	.	.	ENSP00000376213	.	4/4	.	.	.	.	.	.	.	.	rs780183473,COSM1212270,COSM1212269	4/4	PASS	ENST00000392413	Transcript	.	.	ENSG00000130518	29350	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	K1683_HUMAN	KIAA1683	HGNC	U3KQN7_HUMAN,U3KQG6_HUMAN	.	UPI000194EC26	SNV	KIAA1683,missense_variant,p.Arg943His,ENST00000600359,;KIAA1683,missense_variant,p.Arg989His,ENST00000600328,;KIAA1683,missense_variant,p.Arg1176His,ENST00000392413,;PDE4C,upstream_gene_variant,,ENST00000355502,;PDE4C,upstream_gene_variant,,ENST00000596647,;KIAA1683,non_coding_transcript_exon_variant,,ENST00000599638,;	3743	40	11	SUCCESS
ZNF234	10780	.	GRCh37	19	44660620	44660620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	12	216	0	ENST00000426739.2:c.451G>T	p.Asp151Tyr	p.D151Y	ENST00000426739	NM_006630.2	151	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS46101.1	451	MUTECT|MUSE	.	AATGTGATGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF195,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000400878	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000426739	Transcript	.	.	ENSG00000263002	13027	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0)	.	ZN234_HUMAN	ZNF234	HGNC	Q86WM3_HUMAN,Q86WM2_HUMAN	.	UPI0000070C95	SNV	ZNF234,missense_variant,p.Asp151Tyr,ENST00000592437,;ZNF234,missense_variant,p.Asp151Tyr,ENST00000426739,;	709	217	210	SUCCESS
TUFT1	7286	.	GRCh37	1	151546769	151546769	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	8	120	0	ENST00000368849.3:c.618G>C	p.Arg206Ser	p.R206S	ENST00000368849	NM_020127.2	206	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS1000.1	618	MUTECT|MUSE	.	CAGAGGGAAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171:SF4,hmmpanther:PTHR23171,Pfam_domain:PF15328	.	.	ENSP00000357842	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000368849	Transcript	.	.	ENSG00000143367	12422	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.341)	.	deleterious(0.01)	.	TUFT1_HUMAN	TUFT1	HGNC	.	.	UPI0000037BFA	SNV	TUFT1,missense_variant,p.Arg181Ser,ENST00000368848,;TUFT1,missense_variant,p.Arg206Ser,ENST00000368849,;TUFT1,missense_variant,p.Arg147Ser,ENST00000353024,;TUFT1,missense_variant,p.Arg151Ser,ENST00000392712,;TUFT1,missense_variant,p.Arg225Ser,ENST00000538902,;TUFT1,non_coding_transcript_exon_variant,,ENST00000490156,;TUFT1,downstream_gene_variant,,ENST00000498606,;	680	120	132	SUCCESS
TMEM51	55092	.	GRCh37	1	15541828	15541828	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs529430855	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	37	0	ENST00000376008.2:c.245G>A	p.Cys82Tyr	p.C82Y	ENST00000376008		82	tGc/tAc	0	.	T:0	.	T:0	.	A	C/Y	protein_coding	YES	CCDS154.1	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGCCTGA	NONE	by1000G	.	Pfam_domain:PF15345,hmmpanther:PTHR16015,Transmembrane_helices:TMhelix	T:0.001	.	ENSP00000394899	T:0	2/3	.	.	.	.	.	.	.	.	rs529430855	2/3	PASS	ENST00000428417	Transcript	.	T:0.0002	ENSG00000171729	25488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	T:0	tolerated(0.06)	.	TMM51_HUMAN	TMEM51	HGNC	B1AP03_HUMAN	.	UPI0000073712	SNV	TMEM51,missense_variant,p.Cys82Tyr,ENST00000434578,;TMEM51,missense_variant,p.Cys82Tyr,ENST00000400796,;TMEM51,missense_variant,p.Cys82Tyr,ENST00000376014,;TMEM51,missense_variant,p.Cys82Tyr,ENST00000376008,;TMEM51,missense_variant,p.Cys82Tyr,ENST00000451326,;TMEM51,missense_variant,p.Cys82Tyr,ENST00000428417,;	691	37	35	SUCCESS
PAPPA2	60676	.	GRCh37	1	176564726	176564726	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	38	0	ENST00000367662.3:c.1986C>T	p.Pro662=	p.P662=	ENST00000367662	NM_020318.2	662	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41438.1	1986	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCAAGAG	NONE	.	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325	.	.	ENSP00000356634	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,synonymous_variant,p.%3D,ENST00000367661,;PAPPA2,synonymous_variant,p.%3D,ENST00000367662,;	3150	38	37	SUCCESS
LYST	1130	.	GRCh37	1	235937265	235937265	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs751813278	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	83	212	0	ENST00000389793.2:c.5661A>T	p.Glu1887Asp	p.E1887D	ENST00000389793	NM_000081.3	1887	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS31062.1	5661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCTTCACC	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	.	.	ENSP00000374444	.	19/53	.	.	.	.	.	.	.	.	rs751813278	19/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.38)	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,missense_variant,p.Glu1887Asp,ENST00000389793,;LYST,missense_variant,p.Glu1887Asp,ENST00000389794,;LYST,3_prime_UTR_variant,,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;	5836	212	269	SUCCESS
OR6F1	343169	.	GRCh37	1	247875185	247875185	+	synonymous_variant	Silent	SNP	C	C	T	rs912568055	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	53	0	ENST00000302084.2:c.873G>A	p.Thr291=	p.T291=	ENST00000302084	NM_001005286.1	291	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31095.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGCGTATA	BUFFER|p.R293C|c.877C>T|4	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF24,hmmpanther:PTHR26454	.	.	ENSP00000305640	.	1/1	.	.	.	.	.	.	.	.	COSM907070	1/1	PASS	ENST00000302084	Transcript	.	.	ENSG00000169214	15027	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR6F1_HUMAN	OR6F1	HGNC	.	.	UPI0000041CD7	SNV	OR6F1,synonymous_variant,p.%3D,ENST00000302084,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000419891,;RP11-634B7.4,intron_variant,,ENST00000449298,;	921	53	59	SUCCESS
LCK	3932	.	GRCh37	1	32741956	32741956	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	32	0	ENST00000336890.5:c.650G>A	p.Cys217Tyr	p.C217Y	ENST00000336890	NM_005356.3	217	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS359.1	650	MUTECT|MUSE	.	GCTGTGCACAC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	.	.	ENSP00000337825	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000336890	Transcript	.	.	ENSG00000182866	6524	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.875)	.	deleterious(0)	.	LCK_HUMAN	LCK	HGNC	F8W6B9_HUMAN,B3KUV3_HUMAN	.	UPI0000151F17	SNV	LCK,missense_variant,p.Cys261Tyr,ENST00000373557,;LCK,missense_variant,p.Cys217Tyr,ENST00000333070,;LCK,missense_variant,p.Cys217Tyr,ENST00000336890,;LCK,intron_variant,,ENST00000495610,;LCK,intron_variant,,ENST00000373564,;LCK,downstream_gene_variant,,ENST00000373562,;LCK,downstream_gene_variant,,ENST00000477031,;LCK,downstream_gene_variant,,ENST00000461712,;LCK,downstream_gene_variant,,ENST00000482949,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000469956,;LCK,downstream_gene_variant,,ENST00000476457,;LCK,downstream_gene_variant,,ENST00000355928,;	788	32	22	SUCCESS
SYDE2	84144	.	GRCh37	1	85647886	85647886	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	245	9	206	0	ENST00000341460.5:c.2439A>G	p.Ile813Met	p.I813M	ENST00000341460	NM_032184.1	813	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS44169.1	2439	MUTECT|MUSE	.	CCAAATATTAT	NONE	.	.	Superfamily_domains:SSF48350,hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178	.	.	ENSP00000340594	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000341460	Transcript	.	.	ENSG00000097096	25841	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.025)	.	tolerated(0.32)	.	SYDE2_HUMAN	SYDE2	HGNC	.	.	UPI0001553B04	SNV	SYDE2,missense_variant,p.Ile813Met,ENST00000341460,;SYDE2,non_coding_transcript_exon_variant,,ENST00000234668,;	2489	206	254	SUCCESS
UMODL1	89766	.	GRCh37	21	43529725	43529725	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	21	0	ENST00000408910.2:c.1573T>A	p.Cys525Ser	p.C525S	ENST00000408910	NM_001004416.2	525	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS42935.1	1573	RADIA|MUTECT|MUSE	.	CCTGGTGCATC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,PROSITE_profiles:PS50026	.	.	ENSP00000386126	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Cys525Ser,ENST00000408910,;UMODL1,missense_variant,p.Cys525Ser,ENST00000408989,;UMODL1,missense_variant,p.Cys453Ser,ENST00000400424,;UMODL1,missense_variant,p.Cys453Ser,ENST00000400427,;C21orf128,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,;	1573	21	10	SUCCESS
SLC9A2	6549	.	GRCh37	2	103317675	103317675	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	22	141	0	ENST00000233969.2:c.1733C>T	p.Thr578Ile	p.T578I	ENST00000233969	NM_003048.3	578	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS2062.1	1733	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTACATTTG	NONE	.	.	hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	.	.	ENSP00000233969	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000233969	Transcript	.	.	ENSG00000115616	11072	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.085)	.	deleterious(0.05)	.	SL9A2_HUMAN	SLC9A2	HGNC	.	.	UPI000012FD21	SNV	SLC9A2,missense_variant,p.Thr578Ile,ENST00000233969,;SLC9A2,non_coding_transcript_exon_variant,,ENST00000469286,;	1875	141	171	SUCCESS
SNTG2	54221	.	GRCh37	2	1241722	1241722	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs530642242	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	27	0	ENST00000308624.5:c.782C>G	p.Thr261Arg	p.T261R	ENST00000308624	NM_018968.3	261	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS46220.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACACAGCCC	NONE	byCluster	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	.	ENSP00000311837	.	10/17	.	.	.	.	.	.	.	.	rs530642242	10/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	deleterious(0.03)	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Thr261Arg,ENST00000308624,;SNTG2,missense_variant,p.Thr134Arg,ENST00000407292,;SNTG2,intron_variant,,ENST00000494178,;	911	27	35	SUCCESS
SPHKAP	80309	.	GRCh37	2	228884827	228884827	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	50	131	0	ENST00000392056.3:c.743A>T	p.Gln248Leu	p.Q248L	ENST00000392056	NM_001142644.1	248	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS46537.1	743	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTAGCTGTTTA	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.06)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Gln248Leu,ENST00000344657,;SPHKAP,missense_variant,p.Gln248Leu,ENST00000392056,;	790	131	172	SUCCESS
NDUFA10	4705	.	GRCh37	2	240923110	240923110	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	120	0	ENST00000252711.2:c.999+6381G>A		p.*333*	ENST00000252711	NM_004544.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2531.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAAAAC	NONE	.	.	.	.	.	ENSP00000252711	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000252711	Transcript	.	.	ENSG00000130414	7684	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NDUAA_HUMAN	NDUFA10	HGNC	Q53SW4_HUMAN,Q53QE8_HUMAN	.	UPI000013090A	SNV	NDUFA10,missense_variant,p.Gly372Arg,ENST00000307300,;NDUFA10,intron_variant,,ENST00000443626,;NDUFA10,intron_variant,,ENST00000404554,;NDUFA10,intron_variant,,ENST00000444548,;NDUFA10,intron_variant,,ENST00000252711,;NDUFA10,intron_variant,,ENST00000448880,;NDUFA10,intron_variant,,ENST00000419408,;NDUFA10,intron_variant,,ENST00000476216,;NDUFA10,intron_variant,,ENST00000485344,;	.	120	111	SUCCESS
CRIM1	51232	.	GRCh37	2	36739445	36739445	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs965547947	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	7	123	0	ENST00000280527.2:c.1688G>A	p.Arg563His	p.R563H	ENST00000280527	NM_016441.2	563	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS1783.1	1688	MUTECT|MUSE	.	CTGTCGCTGTA	NONE	.	.	PROSITE_profiles:PS51252,hmmpanther:PTHR11339,Pfam_domain:PF02822,Gene3D:2.10.22.10,Superfamily_domains:SSF57262	.	.	ENSP00000280527	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000280527	Transcript	.	.	ENSG00000150938	2359	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CRIM1_HUMAN	CRIM1	HGNC	Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN	.	UPI000004C628	SNV	CRIM1,missense_variant,p.Arg563His,ENST00000280527,;CRIM1,upstream_gene_variant,,ENST00000413985,;RP11-78I14.1,downstream_gene_variant,,ENST00000609765,;	2055	123	137	SUCCESS
HEATR5B	54497	.	GRCh37	2	37306331	37306331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	49	135	0	ENST00000233099.5:c.270G>T	p.Gln90His	p.Q90H	ENST00000233099	NM_019024.1	90	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS33181.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCTGAAA	NONE	.	.	hmmpanther:PTHR21663:SF2,hmmpanther:PTHR21663,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000233099	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	deleterious(0.02)	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,missense_variant,p.Gln90His,ENST00000233099,;HEATR5B,missense_variant,p.Gln90His,ENST00000354531,;HEATR5B,upstream_gene_variant,,ENST00000478810,;	366	135	150	SUCCESS
ZNF638	27332	.	GRCh37	2	71582860	71582860	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	8	253	0	ENST00000264447.4:c.1329G>A	p.Gln443=	p.Q443=	ENST00000264447	NM_001014972.2	443	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS1917.1	1329	MUTECT|MUSE	.	ATTCAGCATCA	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592,PROSITE_patterns:PS00028,SMART_domains:SM00451,SMART_domains:SM00355	.	.	ENSP00000386433	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,synonymous_variant,p.%3D,ENST00000409544,;ZNF638,synonymous_variant,p.%3D,ENST00000264447,;ZNF638,synonymous_variant,p.%3D,ENST00000377802,;ZNF638,synonymous_variant,p.%3D,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,non_coding_transcript_exon_variant,,ENST00000464375,;ZNF638,non_coding_transcript_exon_variant,,ENST00000466330,;ZNF638,non_coding_transcript_exon_variant,,ENST00000494621,;ZNF638,non_coding_transcript_exon_variant,,ENST00000475743,;ZNF638,intron_variant,,ENST00000466975,;	1959	253	274	SUCCESS
COL6A6	131873	.	GRCh37	3	130354582	130354582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	50	0	ENST00000358511.6:c.5068C>A	p.Leu1690Met	p.L1690M	ENST00000358511	NM_001102608.1	1690	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS46911.1	5068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCTGAAG	NONE	.	.	hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992	.	.	ENSP00000351310	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious(0.01)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Leu1690Met,ENST00000453409,;COL6A6,missense_variant,p.Leu1690Met,ENST00000358511,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;	5099	50	54	SUCCESS
KY	339855	.	GRCh37	3	134366278	134366278	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs747530241	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	73	0	ENST00000423778.2:c.198C>T		p.X66_splice	ENST00000423778	NM_178554.4	66	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS46920.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGTGAAA	NONE	byFrequency	.	hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31	.	.	ENSP00000397598	.	2/11	.	.	.	.	.	.	.	.	rs747530241,COSM1038699,COSM1038700	2/11	PASS	ENST00000423778	Transcript	.	.	ENSG00000174611	26576	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	KY_HUMAN	KY	HGNC	.	.	UPI0000EE2109	SNV	KY,synonymous_variant,p.%3D,ENST00000503669,;KY,synonymous_variant,p.%3D,ENST00000423778,;KY,synonymous_variant,p.%3D,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;EPHB1,intron_variant,,ENST00000467708,;KY,splice_region_variant,,ENST00000506319,;	260	73	60	SUCCESS
PSMD2	5708	.	GRCh37	3	184020202	184020202	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs11545182	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	30	106	0	ENST00000310118.4:c.749G>A	p.Arg250His	p.R250H	ENST00000310118	NM_002808.4	250	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS3258.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGTTGTG	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015965	.	.	ENSP00000310129	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000310118	Transcript	.	.	ENSG00000175166	9559	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.11)	.	PSMD2_HUMAN	PSMD2	HGNC	Q9NSM5_HUMAN,E7EW34_HUMAN	.	UPI000013277E	SNV	PSMD2,missense_variant,p.Arg175His,ENST00000417952,;PSMD2,missense_variant,p.Arg250His,ENST00000310118,;PSMD2,missense_variant,p.Arg91His,ENST00000435761,;PSMD2,missense_variant,p.Arg120His,ENST00000439383,;EIF2B5,intron_variant,,ENST00000444495,;PSMD2,upstream_gene_variant,,ENST00000432855,;PSMD2,non_coding_transcript_exon_variant,,ENST00000463602,;PSMD2,downstream_gene_variant,,ENST00000459910,;PSMD2,upstream_gene_variant,,ENST00000473991,;PSMD2,3_prime_UTR_variant,,ENST00000445558,;PSMD2,non_coding_transcript_exon_variant,,ENST00000491149,;PSMD2,non_coding_transcript_exon_variant,,ENST00000485937,;PSMD2,upstream_gene_variant,,ENST00000466987,;PSMD2,downstream_gene_variant,,ENST00000433010,;PSMD2,downstream_gene_variant,,ENST00000476461,;PSMD2,upstream_gene_variant,,ENST00000488085,;PSMD2,upstream_gene_variant,,ENST00000496925,;PSMD2,downstream_gene_variant,,ENST00000492191,;PSMD2,downstream_gene_variant,,ENST00000487475,;PSMD2,upstream_gene_variant,,ENST00000460628,;	1307	106	108	SUCCESS
FLNB	2317	.	GRCh37	3	58084513	58084513	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	7	179	0	ENST00000295956.4:c.1223A>G	p.Asp408Gly	p.D408G	ENST00000295956	NM_001457.3	408	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54599.1	1223	MUTECT|MUSE	.	GGAAGACAAAG	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	8/47	.	.	.	.	.	.	.	.	.	8/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.803)	.	deleterious(0.03)	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,missense_variant,p.Asp408Gly,ENST00000429972,;FLNB,missense_variant,p.Asp408Gly,ENST00000295956,;FLNB,missense_variant,p.Asp408Gly,ENST00000348383,;FLNB,missense_variant,p.Asp239Gly,ENST00000493452,;FLNB,missense_variant,p.Asp408Gly,ENST00000358537,;FLNB,missense_variant,p.Asp408Gly,ENST00000490882,;FLNB,missense_variant,p.Asp239Gly,ENST00000419752,;FLNB,missense_variant,p.Asp408Gly,ENST00000357272,;	1388	179	195	SUCCESS
SHQ1	55164	.	GRCh37	3	72890225	72890225	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	56	127	0	ENST00000325599.8:c.457T>A	p.Leu153Ile	p.L153I	ENST00000325599	NM_018130.2	153	Tta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS33788.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTAAGTTTC	NONE	.	.	hmmpanther:PTHR12967:SF0,hmmpanther:PTHR12967	.	.	ENSP00000315182	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000325599	Transcript	.	.	ENSG00000144736	25543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.512)	.	deleterious(0.04)	.	SHQ1_HUMAN	SHQ1	HGNC	C9J6N3_HUMAN	.	UPI00001416C5	SNV	SHQ1,missense_variant,p.Leu64Ile,ENST00000482785,;SHQ1,missense_variant,p.Leu153Ile,ENST00000325599,;SHQ1,missense_variant,p.Leu125Ile,ENST00000463369,;SHQ1,3_prime_UTR_variant,,ENST00000444040,;SHQ1,3_prime_UTR_variant,,ENST00000471526,;	597	127	146	SUCCESS
USP38	84640	.	GRCh37	4	144135888	144135888	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	71	164	0	ENST00000307017.4:c.2759G>T	p.Arg920Ile	p.R920I	ENST00000307017	NM_032557.5	920	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS3758.1	2759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAGAGTGA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF386,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000303434	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000307017	Transcript	.	.	ENSG00000170185	20067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBP38_HUMAN	USP38	HGNC	B3KSB9_HUMAN	.	UPI0000047AF9	SNV	USP38,missense_variant,p.Arg920Ile,ENST00000510377,;USP38,missense_variant,p.Arg920Ile,ENST00000307017,;USP38,3_prime_UTR_variant,,ENST00000511739,;	3265	164	206	SUCCESS
GAB1	2549	.	GRCh37	4	144359739	144359739	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1157224464	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	67	0	ENST00000262994.4:c.1181A>G	p.Asn394Ser	p.N394S	ENST00000262994	NM_002039.3	394	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3760.1	1181	MUTECT|MUSE	.	TTTAAACAAAT	NONE	.	.	hmmpanther:PTHR12156:SF18,hmmpanther:PTHR12156	.	.	ENSP00000262995	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000262995	Transcript	.	.	ENSG00000109458	4066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(1)	.	GAB1_HUMAN	GAB1	HGNC	D6RF42_HUMAN	.	UPI0000232A33	SNV	GAB1,missense_variant,p.Asn394Ser,ENST00000262994,;GAB1,missense_variant,p.Asn394Ser,ENST00000262995,;GAB1,missense_variant,p.Asn291Ser,ENST00000505913,;GAB1,intron_variant,,ENST00000512843,;GAB1,downstream_gene_variant,,ENST00000509992,;GAB1,downstream_gene_variant,,ENST00000514639,;GAB1,upstream_gene_variant,,ENST00000508833,;GAB1,non_coding_transcript_exon_variant,,ENST00000507334,;GAB1,upstream_gene_variant,,ENST00000510615,;GAB1,upstream_gene_variant,,ENST00000507070,;GAB1,downstream_gene_variant,,ENST00000511836,;	1608	67	78	SUCCESS
LRRC14B	389257	.	GRCh37	5	192439	192439	+	synonymous_variant	Silent	SNP	C	C	T	rs369014987	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	69	0	ENST00000328278.3:c.786C>T	p.Asp262=	p.D262=	ENST00000328278	NM_001080478.1	262	gaC/gaT	0	T:0.0019	T:0.0076	.	T:0	.	T	D	protein_coding	YES	CCDS47184.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGACGGCGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF27,Superfamily_domains:SSF52047	T:0	T:0.0001	ENSP00000327675	T:0	1/2	.	.	.	.	.	.	.	.	rs369014987	1/2	PASS	ENST00000328278	Transcript	.	T:0.0020	ENSG00000185028	37268	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LR14B_HUMAN	LRRC14B	HGNC	.	.	UPI0000237324	SNV	LRRC14B,synonymous_variant,p.%3D,ENST00000328278,;CCDC127,downstream_gene_variant,,ENST00000296824,;PLEKHG4B,downstream_gene_variant,,ENST00000283426,;CTD-2083E4.7,upstream_gene_variant,,ENST00000563761,;	814	69	64	SUCCESS
EXOC3	11336	.	GRCh37	5	462403	462403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	85	0	ENST00000512944.1:c.1634A>G	p.Glu545Gly	p.E545G	ENST00000512944	NM_007277.4	545	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS54830.1	1634	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGGTCT	NONE	.	.	hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292,Pfam_domain:PF06046	.	.	ENSP00000425587	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000512944	Transcript	.	.	ENSG00000180104	30378	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	EXOC3_HUMAN	EXOC3	HGNC	Q69YP2_HUMAN,D6RBR9_HUMAN,B2RE06_HUMAN	.	UPI000004A021	SNV	EXOC3,missense_variant,p.Glu545Gly,ENST00000315013,;EXOC3,missense_variant,p.Glu545Gly,ENST00000512944,;CTD-2228K2.5,downstream_gene_variant,,ENST00000510714,;EXOC3,missense_variant,p.Glu415Gly,ENST00000503889,;EXOC3,missense_variant,p.Glu430Gly,ENST00000515601,;EXOC3,non_coding_transcript_exon_variant,,ENST00000511015,;EXOC3,downstream_gene_variant,,ENST00000510028,;EXOC3,upstream_gene_variant,,ENST00000505947,;	1823	85	82	SUCCESS
HIVEP1	3096	.	GRCh37	6	12121666	12121666	+	synonymous_variant	Silent	SNP	G	G	A	rs907790729	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	61	0	ENST00000379388.2:c.1638G>A	p.Leu546=	p.L546=	ENST00000379388	NM_002114.2	546	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43426.1	1638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGCTACA	NONE	.	.	hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,synonymous_variant,p.%3D,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	1970	61	61	SUCCESS
SIRT5	23408	.	GRCh37	6	13604846	13604846	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	21	0	ENST00000606117.1:c.857+3665C>T		p.*286*	ENST00000606117	NM_012241.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4526.1	.	MUTECT|MUSE	.	TTGGCCCCCAC	NONE	.	.	.	.	.	ENSP00000476228	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000606117	Transcript	.	.	ENSG00000124523	14933	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIR5_HUMAN	SIRT5	HGNC	.	.	UPI0000073EB3	SNV	SIRT5,3_prime_UTR_variant,,ENST00000379262,;SIRT5,intron_variant,,ENST00000397350,;SIRT5,intron_variant,,ENST00000359782,;SIRT5,intron_variant,,ENST00000606117,;SIRT5,intron_variant,,ENST00000379250,;	.	21	19	SUCCESS
MDC1	9656	.	GRCh37	6	30673414	30673414	+	synonymous_variant	Silent	SNP	G	G	A	rs1275283592	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	81	232	0	ENST00000376406.3:c.3546C>T	p.Pro1182=	p.P1182=	ENST00000376406	NM_014641.2	1182	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34384.1	3546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTGGGCTC	BUFFER|p.V1186A|c.3557T>C|4,BUFFER|p.V1186A|c.3557T>C|3	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,synonymous_variant,p.%3D,ENST00000417033,;MDC1,synonymous_variant,p.%3D,ENST00000376406,;MDC1,synonymous_variant,p.%3D,ENST00000376405,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000492462,;MDC1,upstream_gene_variant,,ENST00000489540,;	4194	232	252	SUCCESS
PPT2	9374	.	GRCh37	6	32130607	32130607	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	35	129	0	ENST00000324816.6:c.789G>A	p.Gly263=	p.G263=	ENST00000324816		263	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4740.1	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGTTGAA	NONE	.	.	hmmpanther:PTHR11247:SF22,hmmpanther:PTHR11247,Gene3D:3.40.50.1820,Pfam_domain:PF02089,Superfamily_domains:SSF53474	.	.	ENSP00000354608	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361568	Transcript	.	.	ENSG00000221988	9326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PPT2	HGNC	G8JLL2_HUMAN,G8JLE1_HUMAN	.	UPI0000457411	SNV	PPT2,synonymous_variant,p.%3D,ENST00000395523,;PPT2,synonymous_variant,p.%3D,ENST00000324816,;PPT2,synonymous_variant,p.%3D,ENST00000375143,;PPT2,synonymous_variant,p.%3D,ENST00000361568,;PPT2,synonymous_variant,p.%3D,ENST00000375137,;PPT2,intron_variant,,ENST00000445576,;PPT2,intron_variant,,ENST00000437001,;EGFL8,upstream_gene_variant,,ENST00000395512,;EGFL8,upstream_gene_variant,,ENST00000333845,;PPT2,downstream_gene_variant,,ENST00000424499,;EGFL8,upstream_gene_variant,,ENST00000432129,;PPT2-EGFL8,intron_variant,,ENST00000453656,;PPT2,downstream_gene_variant,,ENST00000493548,;EGFL8,upstream_gene_variant,,ENST00000489721,;PPT2,downstream_gene_variant,,ENST00000478521,;PPT2-EGFL8,intron_variant,,ENST00000422437,;PPT2-EGFL8,intron_variant,,ENST00000585246,;PPT2-EGFL8,intron_variant,,ENST00000428388,;PPT2-EGFL8,intron_variant,,ENST00000479001,;PPT2-EGFL8,intron_variant,,ENST00000421600,;PPT2-EGFL8,intron_variant,,ENST00000583227,;EGFL8,upstream_gene_variant,,ENST00000482938,;PPT2,downstream_gene_variant,,ENST00000495908,;EGFL8,upstream_gene_variant,,ENST00000466239,;PPT2,downstream_gene_variant,,ENST00000436118,;	911	129	135	SUCCESS
DST	667	.	GRCh37	6	56469970	56469970	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	12	169	0	ENST00000244364.6:c.3673-4951C>G		p.*1225*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47443.1	.	MUTECT|MUSE	.	GTAATGTCATC	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	25/83	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Asp2615Glu,ENST00000439203,;DST,missense_variant,p.Asp2615Glu,ENST00000446842,;DST,missense_variant,p.Asp3119Glu,ENST00000370754,;DST,missense_variant,p.Asp2941Glu,ENST00000361203,;DST,missense_variant,p.Asp2941Glu,ENST00000370769,;DST,missense_variant,p.Asp2941Glu,ENST00000312431,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000421834,;	.	169	160	SUCCESS
EYS	346007	.	GRCh37	6	65612308	65612308	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	101	0	ENST00000370616.2:c.2727C>T	p.Val909=	p.V909=	ENST00000370616		909	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47445.1	2727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGACCAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	17/43	.	.	.	.	.	.	.	.	.	17/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,synonymous_variant,p.%3D,ENST00000370616,;EYS,synonymous_variant,p.%3D,ENST00000370621,;EYS,synonymous_variant,p.%3D,ENST00000503581,;	3265	101	105	SUCCESS
MOSPD3	64598	.	GRCh37	7	100211234	100211234	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761404739	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	51	0	ENST00000223054.4:c.416C>T	p.Ala139Val	p.A139V	ENST00000223054	NM_001040097.1	139	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5701.1	416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGTACC	NONE	byFrequency	.	PROSITE_profiles:PS50202	.	.	ENSP00000377522	.	3/5	.	.	.	.	.	.	.	.	rs761404739,COSM240714	3/5	PASS	ENST00000393950	Transcript	.	.	ENSG00000106330	25078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.014)	.	tolerated(0.05)	0,1	MSPD3_HUMAN	MOSPD3	HGNC	F8WF07_HUMAN,C9J3M4_HUMAN	.	UPI000004A079	SNV	MOSPD3,missense_variant,p.Ala139Val,ENST00000493970,;MOSPD3,missense_variant,p.Ala129Val,ENST00000424091,;MOSPD3,missense_variant,p.Ala139Val,ENST00000379527,;MOSPD3,missense_variant,p.Ala139Val,ENST00000223054,;MOSPD3,missense_variant,p.Ala139Val,ENST00000393950,;MOSPD3,3_prime_UTR_variant,,ENST00000462372,;MOSPD3,non_coding_transcript_exon_variant,,ENST00000490309,;MOSPD3,non_coding_transcript_exon_variant,,ENST00000497456,;	698	51	60	SUCCESS
FBXL6	26233	.	GRCh37	8	145580146	145580146	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782195022	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	62	0	ENST00000331890.5:c.1039C>G	p.Arg347Gly	p.R347G	ENST00000331890	NM_012162.3	347	Cga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6422.1	1039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGTCCCG	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF10	.	.	ENSP00000330098	.	7/9	.	.	.	.	.	.	.	.	rs782195022,COSM3732562	7/9	PASS	ENST00000331890	Transcript	.	.	ENSG00000182325	13603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.274)	.	deleterious(0.02)	0,1	FBXL6_HUMAN	FBXL6	HGNC	Q71RB6_HUMAN	.	UPI000006E3A5	SNV	FBXL6,missense_variant,p.Arg347Gly,ENST00000331890,;FBXL6,missense_variant,p.Arg341Gly,ENST00000455319,;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;TMEM249,upstream_gene_variant,,ENST00000398633,;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000530047,;SLC52A2,upstream_gene_variant,,ENST00000540505,;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000402965,;TMEM249,upstream_gene_variant,,ENST00000526263,;SLC52A2,upstream_gene_variant,,ENST00000534725,;SLC52A2,upstream_gene_variant,,ENST00000329994,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524909,;FBXL6,non_coding_transcript_exon_variant,,ENST00000526524,;FBXL6,non_coding_transcript_exon_variant,,ENST00000527000,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,downstream_gene_variant,,ENST00000530687,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524492,;GS1-393G12.13,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000526779,;SLC52A2,upstream_gene_variant,,ENST00000533662,;FBXL6,downstream_gene_variant,,ENST00000529279,;TMEM249,upstream_gene_variant,,ENST00000526503,;	1104	62	66	SUCCESS
DEFB107A	245910	.	GRCh37	8	7673223	7673223	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	23	226	0	ENST00000335021.2:c.-73A>G		p.*25*	ENST00000335021	NM_001037668.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43699.1	.	RADIA|VARSCANS	.	AAATATGTTCT	NONE	.	.	.	.	.	ENSP00000334681	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000335021	Transcript	.	.	ENSG00000186572	18086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	D107A_HUMAN	DEFB107A	HGNC	.	.	UPI0000D7E5F1	SNV	DEFB107A,5_prime_UTR_variant,,ENST00000335021,;	16	226	190	SUCCESS
GRIN1	2902	.	GRCh37	9	140057102	140057102	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	16	0	ENST00000371561.3:c.1924A>G	p.Ile642Val	p.I642V	ENST00000371561	NM_007327.3	642	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55354.1	1987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGATCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324,Prints_domain:PR00177	.	.	ENSP00000360608	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Ile663Val,ENST00000371555,;GRIN1,missense_variant,p.Ile642Val,ENST00000315048,;GRIN1,missense_variant,p.Ile642Val,ENST00000371561,;GRIN1,missense_variant,p.Ile642Val,ENST00000371550,;GRIN1,missense_variant,p.Ile642Val,ENST00000350902,;GRIN1,missense_variant,p.Ile663Val,ENST00000371553,;GRIN1,missense_variant,p.Ile642Val,ENST00000371559,;GRIN1,missense_variant,p.Ile663Val,ENST00000371546,;GRIN1,missense_variant,p.Ile663Val,ENST00000371560,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000473811,;GRIN1,downstream_gene_variant,,ENST00000485413,;GRIN1,upstream_gene_variant,,ENST00000460273,;	1993	16	20	SUCCESS
SPAG8	26206	.	GRCh37	9	35810300	35810300	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	82	0	ENST00000475644.1:c.1207G>C	p.Asp403His	p.D403H	ENST00000475644		403	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6592.1	1207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTCGTGAG	NONE	.	.	hmmpanther:PTHR15510	.	.	ENSP00000340982	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000340291	Transcript	.	.	ENSG00000137098	14105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SPAG8_HUMAN	SPAG8	HGNC	F8WBP3_HUMAN	.	UPI000013E78B	SNV	SPAG8,missense_variant,p.Asp401His,ENST00000497810,;SPAG8,missense_variant,p.Asp403His,ENST00000340291,;SPAG8,missense_variant,p.Asp403His,ENST00000396638,;SPAG8,intron_variant,,ENST00000484764,;HINT2,downstream_gene_variant,,ENST00000259667,;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000447210,;NPR2,downstream_gene_variant,,ENST00000421267,;NPR2,downstream_gene_variant,,ENST00000342694,;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,non_coding_transcript_exon_variant,,ENST00000479751,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000471774,;HINT2,downstream_gene_variant,,ENST00000461169,;SPAG8,missense_variant,p.Asp403His,ENST00000475644,;SPAG8,3_prime_UTR_variant,,ENST00000471631,;SPAG8,3_prime_UTR_variant,,ENST00000495667,;SPAG8,3_prime_UTR_variant,,ENST00000472605,;SPAG8,non_coding_transcript_exon_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000448821,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000469249,;	1332	82	62	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84606921	84606921	+	synonymous_variant	Silent	SNP	C	C	T	rs779704681	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	40	192	0	ENST00000344803.2:c.1536C>T	p.Ser512=	p.S512=	ENST00000344803	NM_001001670.2	512	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47986.1	1536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCGAGTC	NONE	byFrequency	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859,Pfam_domain:PF14650	.	.	ENSP00000341988	.	4/4	.	.	.	.	.	.	.	.	rs779704681	4/4	PASS	ENST00000344803	Transcript	.	.	ENSG00000214929	37283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,synonymous_variant,p.%3D,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	1583	192	193	SUCCESS
CYP17A1	1586	.	GRCh37	10	104597036	104597036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	96	0	ENST00000369887.3:c.83C>A	p.Pro28His	p.P28H	ENST00000369887	NM_000102.3	28	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS7541.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGGGGTAC	NONE	.	.	hmmpanther:PTHR24289,hmmpanther:PTHR24289:SF1,Gene3D:1.10.630.10,Pfam_domain:PF00067	.	.	ENSP00000358903	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000369887	Transcript	1	.	ENSG00000148795	2593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CP17A_HUMAN	CYP17A1	HGNC	Q1HB44_HUMAN,C7F7K7_HUMAN	.	UPI0000128309	SNV	CYP17A1,missense_variant,p.Pro28His,ENST00000369887,;CYP17A1-AS1,downstream_gene_variant,,ENST00000369884,;CYP17A1,non_coding_transcript_exon_variant,,ENST00000489268,;PFN1P11,downstream_gene_variant,,ENST00000445829,;	255	96	52	SUCCESS
ARL5B	221079	.	GRCh37	10	18964121	18964121	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	155	0	ENST00000377275.3:c.516G>A	p.Met172Ile	p.M172I	ENST00000377275	NM_178815.3	172	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7131.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGACCTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Pfam_domain:PF00025,Gene3D:3.40.50.300,hmmpanther:PTHR11711:SF146,hmmpanther:PTHR11711,PROSITE_profiles:PS51417	.	.	ENSP00000366487	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000377275	Transcript	.	.	ENSG00000165997	23052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.29)	.	ARL5B_HUMAN	ARL5B	HGNC	B0YIW9_HUMAN	.	UPI000006F7A5	SNV	ARL5B,missense_variant,p.Met172Ile,ENST00000377275,;	749	155	92	SUCCESS
ZW10	9183	.	GRCh37	11	113629311	113629311	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759450154	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	160	0	ENST00000200135.3:c.698T>C	p.Val233Ala	p.V233A	ENST00000200135	NM_004724.3	233	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS8363.1	698	MUTECT|MUSE	.	CAAGAACAGAA	NONE	byFrequency	.	hmmpanther:PTHR12205:SF0,hmmpanther:PTHR12205,Pfam_domain:PF06248	.	.	ENSP00000200135	.	6/16	.	.	.	.	.	.	.	.	rs759450154	6/16	PASS	ENST00000200135	Transcript	.	.	ENSG00000086827	13194	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.17)	.	ZW10_HUMAN	ZW10	HGNC	B4E1J7_HUMAN,A1A528_HUMAN	.	UPI000013C491	SNV	ZW10,missense_variant,p.Val233Ala,ENST00000200135,;ZW10,missense_variant,p.Val233Ala,ENST00000535142,;ZW10,missense_variant,p.Phe120Leu,ENST00000538209,;	843	160	102	SUCCESS
SLC22A12	116085	.	GRCh37	11	64367214	64367214	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	265	0	ENST00000377574.1:c.1137C>T	p.Phe379=	p.F379=	ENST00000377574	NM_144585.3	379	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS8075.1	1137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCCTGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF130,hmmpanther:PTHR24064,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000366797	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000377574	Transcript	.	.	ENSG00000197891	17989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AC_HUMAN	SLC22A12	HGNC	G3XAN7_HUMAN	.	UPI0000040C17	SNV	SLC22A12,synonymous_variant,p.%3D,ENST00000473690,;SLC22A12,synonymous_variant,p.%3D,ENST00000377574,;SLC22A12,synonymous_variant,p.%3D,ENST00000336464,;SLC22A12,synonymous_variant,p.%3D,ENST00000377567,;SLC22A12,synonymous_variant,p.%3D,ENST00000377572,;	1884	265	98	SUCCESS
CCDC81	60494	.	GRCh37	11	86106289	86106289	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	43	0	ENST00000445632.2:c.556-87A>G		p.*186*	ENST00000445632	NM_001156474.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53691.1	.	MUTECT|MUSE	.	GTGGTAGCCTT	NONE	.	.	.	.	.	ENSP00000415528	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000445632	Transcript	.	.	ENSG00000149201	26281	.	.	MODIFIER	4/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD81_HUMAN	CCDC81	HGNC	B4DQN0_HUMAN	.	UPI0000E5BE97	SNV	CCDC81,5_prime_UTR_variant,,ENST00000528728,;CCDC81,intron_variant,,ENST00000531271,;CCDC81,intron_variant,,ENST00000445632,;CCDC81,intron_variant,,ENST00000278487,;CCDC81,intron_variant,,ENST00000354755,;CCDC81,non_coding_transcript_exon_variant,,ENST00000530845,;CCDC81,non_coding_transcript_exon_variant,,ENST00000529603,;CCDC81,non_coding_transcript_exon_variant,,ENST00000532215,;CCDC81,non_coding_transcript_exon_variant,,ENST00000532466,;	.	43	44	SUCCESS
ADCY4	196883	.	GRCh37	14	24802167	24802167	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1247592927	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	152	0	ENST00000310677.4:c.187A>G	p.Thr63Ala	p.T63A	ENST00000310677	NM_001198568.1	63	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9627.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTCAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286	.	.	ENSP00000312126	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000310677	Transcript	.	.	ENSG00000129467	235	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.79)	.	ADCY4_HUMAN	ADCY4	HGNC	Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN	.	UPI00000398CC	SNV	ADCY4,missense_variant,p.Thr63Ala,ENST00000561138,;ADCY4,missense_variant,p.Thr63Ala,ENST00000554068,;ADCY4,missense_variant,p.Thr63Ala,ENST00000418030,;ADCY4,missense_variant,p.Thr63Ala,ENST00000310677,;RP11-934B9.3,missense_variant,p.Asp129Gly,ENST00000555591,;ADCY4,5_prime_UTR_variant,,ENST00000396747,;ADCY4,5_prime_UTR_variant,,ENST00000559167,;RIPK3,downstream_gene_variant,,ENST00000554569,;RIPK3,downstream_gene_variant,,ENST00000216274,;ADCY4,upstream_gene_variant,,ENST00000556932,;ADCY4,non_coding_transcript_exon_variant,,ENST00000558563,;ADCY4,non_coding_transcript_exon_variant,,ENST00000558125,;ADCY4,missense_variant,p.Thr63Ala,ENST00000554781,;ADCY4,5_prime_UTR_variant,,ENST00000557056,;ADCY4,non_coding_transcript_exon_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000554577,;ADCY4,upstream_gene_variant,,ENST00000554674,;RIPK3,downstream_gene_variant,,ENST00000554756,;ADCY4,upstream_gene_variant,,ENST00000545213,;	301	152	52	SUCCESS
SMOC1	64093	.	GRCh37	14	70490056	70490056	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	176	0	ENST00000381280.4:c.1183G>A	p.Ala395Thr	p.A395T	ENST00000381280	NM_022137.5	395	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32110.1	1183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGCCAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12352:SF10,hmmpanther:PTHR12352,Gene3D:1.10.238.10,Pfam_domain:PF10591,Superfamily_domains:SSF47473	.	.	ENSP00000355110	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000361956	Transcript	.	.	ENSG00000198732	20318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	SMOC1_HUMAN	SMOC1	HGNC	.	.	UPI0000071CCF	SNV	SMOC1,missense_variant,p.Ala395Thr,ENST00000381280,;SMOC1,missense_variant,p.Ala395Thr,ENST00000361956,;	1446	176	92	SUCCESS
OR1E2	8388	.	GRCh37	17	3336389	3336389	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	20	166	0	ENST00000248384.1:c.747T>A	p.Thr249=	p.T249=	ENST00000248384	NM_003554.1	249	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11026.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAAGTAGA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF137,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000248384	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248384	Transcript	.	.	ENSG00000127780	8190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1E2_HUMAN	OR1E2	HGNC	Q6IFM7_HUMAN	.	UPI0000041BBF	SNV	OR1E2,synonymous_variant,p.%3D,ENST00000248384,;	747	166	106	SUCCESS
GRIN3B	116444	.	GRCh37	19	1004833	1004833	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774035095	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	78	0	ENST00000234389.3:c.1333T>C	p.Cys445Arg	p.C445R	ENST00000234389	NM_138690.1	445	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS32861.1	1333	RADIA|MUSE	.	AGCTGTGCCTG	NONE	byFrequency	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154	.	.	ENSP00000234389	.	3/9	.	.	.	.	.	.	.	.	rs774035095	3/9	PASS	ENST00000234389	Transcript	.	.	ENSG00000116032	16768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NMD3B_HUMAN	GRIN3B	HGNC	.	.	UPI000004064B	SNV	GRIN3B,missense_variant,p.Cys445Arg,ENST00000234389,;TMEM259,downstream_gene_variant,,ENST00000593068,;TMEM259,downstream_gene_variant,,ENST00000333175,;TMEM259,downstream_gene_variant,,ENST00000356663,;AC004528.1,downstream_gene_variant,,ENST00000594393,;AC004528.4,upstream_gene_variant,,ENST00000588380,;GRIN3B,non_coding_transcript_exon_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000592618,;	1352	78	30	SUCCESS
USP29	57663	.	GRCh37	19	57640050	57640050	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771763319	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	157	0	ENST00000254181.4:c.7T>A	p.Ser3Thr	p.S3T	ENST00000254181	NM_020903.2	3	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS33124.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATATCTCTA	NONE	byFrequency	.	.	.	.	ENSP00000254181	.	4/4	.	.	.	.	.	.	.	.	rs771763319	4/4	PASS	ENST00000254181	Transcript	.	.	ENSG00000131864	18563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.91)	.	UBP29_HUMAN	USP29	HGNC	M0QZL0_HUMAN,A1L447_HUMAN	.	UPI0000137A01	SNV	USP29,missense_variant,p.Ser3Thr,ENST00000600940,;USP29,missense_variant,p.Ser3Thr,ENST00000598197,;USP29,missense_variant,p.Ser3Thr,ENST00000254181,;USP29,missense_variant,p.Ser3Thr,ENST00000600020,;	461	157	69	SUCCESS
ZNF154	7710	.	GRCh37	19	58214112	58214112	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	43	0	ENST00000451275.1:c.205A>G	p.Ser69Gly	p.S69G	ENST00000451275		69	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS42639.1	205	MUTECT|MUSE	.	ATTGCTTCTGA	NONE	.	.	SMART_domains:SM00349,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,PROSITE_profiles:PS50805	.	.	ENSP00000421258	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000512439	Transcript	.	.	ENSG00000179909	12939	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.26)	.	ZN154_HUMAN	ZNF154	HGNC	.	.	UPI00001D819A	SNV	ZNF154,missense_variant,p.Ser69Gly,ENST00000426889,;ZNF154,missense_variant,p.Ser69Gly,ENST00000512439,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF154,missense_variant,p.Ser69Gly,ENST00000451275,;	402	43	49	SUCCESS
CR1	1378	.	GRCh37	1	207787833	207787833	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	22	182	0	ENST00000367051.1:c.5310A>C	p.Glu1770Asp	p.E1770D	ENST00000367051		1770	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44308.1	6660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAACGTGA	BUFFER|p.E2220*|c.6658G>T|7,BUFFER|p.E1770*|c.5308G>T|9	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	40/47	.	.	.	.	.	.	.	.	.	40/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.681)	.	deleterious(0.04)	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,missense_variant,p.Glu1770Asp,ENST00000367051,;CR1,missense_variant,p.Glu1770Asp,ENST00000367052,;CR1,missense_variant,p.Glu2220Asp,ENST00000367049,;CR1,missense_variant,p.Glu1770Asp,ENST00000400960,;CR1,missense_variant,p.Glu1770Asp,ENST00000367053,;CR1,intron_variant,,ENST00000529814,;CR1,downstream_gene_variant,,ENST00000534202,;	6660	182	119	SUCCESS
PPAP2B	0	.	GRCh37	1	56989987	56989987	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	21	213	0	ENST00000371250.3:c.537C>T	p.Tyr179=	p.Y179=	ENST00000371250	NM_003713.4	179	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS604.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTGTAGTT	NONE	.	.	hmmpanther:PTHR10165:SF79,hmmpanther:PTHR10165,Gene3D:1.20.144.10,Pfam_domain:PF01569,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000360296	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000371250	Transcript	.	.	ENSG00000162407	9229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPP3_HUMAN	PPAP2B	HGNC	.	.	UPI000006F261	SNV	PPAP2B,synonymous_variant,p.%3D,ENST00000371250,;PPAP2B,non_coding_transcript_exon_variant,,ENST00000461655,;	1089	213	109	SUCCESS
PLEKHG5	57449	.	GRCh37	1	6531606	6531606	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	177	0	ENST00000400915.3:c.1391A>G	p.Lys464Arg	p.K464R	ENST00000400915	NM_001042663.1	464	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS57969.1	1460	RADIA|MUSE	.	GCGCCTTCTCC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF6,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000439625	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000537245	Transcript	.	.	ENSG00000171680	29105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.11)	.	tolerated(0.17)	.	PKHG5_HUMAN	PLEKHG5	HGNC	B3KR92_HUMAN	.	UPI000206539E	SNV	PLEKHG5,missense_variant,p.Lys408Arg,ENST00000544978,;PLEKHG5,missense_variant,p.Lys408Arg,ENST00000377725,;PLEKHG5,missense_variant,p.Lys408Arg,ENST00000400913,;PLEKHG5,missense_variant,p.Lys485Arg,ENST00000377748,;PLEKHG5,missense_variant,p.Lys477Arg,ENST00000535355,;PLEKHG5,missense_variant,p.Lys485Arg,ENST00000377740,;PLEKHG5,missense_variant,p.Lys408Arg,ENST00000340850,;PLEKHG5,missense_variant,p.Lys464Arg,ENST00000400915,;PLEKHG5,missense_variant,p.Lys408Arg,ENST00000377728,;PLEKHG5,missense_variant,p.Lys445Arg,ENST00000377732,;PLEKHG5,missense_variant,p.Lys408Arg,ENST00000377737,;PLEKHG5,missense_variant,p.Lys487Arg,ENST00000537245,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000487949,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;	1525	177	34	SUCCESS
TRPM2	7226	.	GRCh37	21	45833800	45833800	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	141	0	ENST00000300482.5:c.2989A>T	p.Ser997Cys	p.S997C	ENST00000300482		997	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS13710.1	2989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAGCCCC	NONE	.	.	hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800,Pfam_domain:PF00520	.	.	ENSP00000381023	.	20/32	.	.	.	.	.	.	.	.	.	20/32	PASS	ENST00000397928	Transcript	.	.	ENSG00000142185	12339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,missense_variant,p.Ser977Cys,ENST00000300481,;TRPM2,missense_variant,p.Ser997Cys,ENST00000397928,;TRPM2,missense_variant,p.Ser997Cys,ENST00000397932,;TRPM2,missense_variant,p.Ser997Cys,ENST00000300482,;AP001065.2,downstream_gene_variant,,ENST00000423310,;AP001065.2,downstream_gene_variant,,ENST00000456880,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	3434	141	73	SUCCESS
NEB	4703	.	GRCh37	2	152466364	152466364	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752089716	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	113	0	ENST00000172853.10:c.11560G>C	p.Asp3854His	p.D3854H	ENST00000172853		3854	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS54407.1	12289	MUTECT|MUSE|VARSCANS	.	AATGTCGTTTT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	81/182	.	.	.	.	.	.	.	.	rs752089716,COSM1631326,COSM1631324,COSM1631325	81/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1,1	.	.	probably_damaging(0.997)	.	.	0,1,1,1	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Asp4097His,ENST00000603639,;NEB,missense_variant,p.Asp3854His,ENST00000172853,;NEB,missense_variant,p.Asp4097His,ENST00000427231,;NEB,missense_variant,p.Asp4097His,ENST00000397345,;NEB,missense_variant,p.Asp4097His,ENST00000604864,;NEB,missense_variant,p.Asp3854His,ENST00000409198,;	12492	113	95	SUCCESS
ACVR1	90	.	GRCh37	2	158637052	158637052	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	113	0	ENST00000263640.3:c.128G>A	p.Gly43Asp	p.G43D	ENST00000263640	NM_001105.4	43	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2206.1	128	MUTECT|MUSE	.	CATTACCGCAG	NONE	.	.	Superfamily_domains:SSF57302,Pfam_domain:PF01064,Gene3D:2.10.60.10,hmmpanther:PTHR23255:SF56,hmmpanther:PTHR23255	.	.	ENSP00000263640	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000263640	Transcript	.	.	ENSG00000115170	171	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.59)	.	ACVR1_HUMAN	ACVR1	HGNC	D3DPA4_HUMAN,Q53SV1_HUMAN,Q53SF4_HUMAN,F5GY91_HUMAN,C9JW28_HUMAN,C9JHJ7_HUMAN,C9J1R3_HUMAN	.	UPI000000163F	SNV	ACVR1,missense_variant,p.Gly43Asp,ENST00000434821,;ACVR1,missense_variant,p.Gly43Asp,ENST00000263640,;ACVR1,missense_variant,p.Gly43Asp,ENST00000409283,;ACVR1,missense_variant,p.Gly43Asp,ENST00000410057,;ACVR1,missense_variant,p.Gly43Asp,ENST00000424669,;ACVR1,missense_variant,p.Gly43Asp,ENST00000412025,;ACVR1,missense_variant,p.Gly43Asp,ENST00000539637,;ACVR1,missense_variant,p.Gly43Asp,ENST00000440523,;ACVR1,non_coding_transcript_exon_variant,,ENST00000487456,;	558	113	53	SUCCESS
APOB	338	.	GRCh37	2	21249790	21249790	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	20	218	0	ENST00000233242.1:c.2114T>C	p.Phe705Ser	p.F705S	ENST00000233242	NM_000384.2	705	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS1703.1	2114	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAAAAAGA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF09172,Superfamily_domains:SSF56968	.	.	ENSP00000233242	.	15/29	.	.	.	.	.	.	.	.	.	15/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Phe705Ser,ENST00000233242,;APOB,missense_variant,p.Phe705Ser,ENST00000399256,;	2242	218	126	SUCCESS
COL4A3	1285	.	GRCh37	2	228159735	228159735	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	50	0	ENST00000396578.3:c.3474A>G	p.Gly1158=	p.G1158=	ENST00000396578	NM_000091.4	1158	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS42829.1	3474	RADIA|MUSE	.	CAAGGACGTGA	NONE	.	.	hmmpanther:PTHR24023:SF417,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000379823	.	40/52	.	.	.	.	.	.	.	.	.	40/52	PASS	ENST00000396578	Transcript	.	.	ENSG00000169031	2204	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A3_HUMAN	COL4A3	HGNC	Q548X1_HUMAN,A9QVI3_HUMAN	.	UPI000013E9F3	SNV	COL4A3,synonymous_variant,p.%3D,ENST00000396578,;COL4A3,downstream_gene_variant,,ENST00000304990,;AC097662.2,intron_variant,,ENST00000433324,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000439598,;COL4A3,upstream_gene_variant,,ENST00000468753,;COL4A3,downstream_gene_variant,,ENST00000487633,;COL4A3,upstream_gene_variant,,ENST00000471862,;	3636	50	28	SUCCESS
AC104809.2	0	.	GRCh37	2	241922365	241922365	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	150	0	ENST00000425110.1:n.912C>A		p.*304*	ENST00000425110				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAGGGGAA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000425110	Transcript	.	.	ENSG00000223991	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC104809.2	Clone_based_vega_gene	.	.	.	SNV	AC104809.3,missense_variant,p.Gln79His,ENST00000443866,;AC104809.2,non_coding_transcript_exon_variant,,ENST00000425110,;	912	150	91	SUCCESS
DNAH6	1768	.	GRCh37	2	84972221	84972221	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	111	0	ENST00000237449.6:c.10360A>G	p.Ile3454Val	p.I3454V	ENST00000237449		3454	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS46348.1	10360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATATTAAC	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374045	.	63/77	.	.	.	.	.	.	.	.	.	63/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.13)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Ile3454Val,ENST00000237449,;DNAH6,missense_variant,p.Ile3454Val,ENST00000389394,;	10497	111	70	SUCCESS
NCEH1	57552	.	GRCh37	3	172365871	172365871	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762841949	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	134	0	ENST00000538775.1:c.268C>T	p.His90Tyr	p.H90Y	ENST00000538775	NM_001146276.1	90	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS54682.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGATGGC	NONE	.	.	PIRSF_domain:PIRSF037251,hmmpanther:PTHR23024:SF108,hmmpanther:PTHR23024	.	.	ENSP00000442464	.	2/5	.	.	.	.	.	.	.	.	rs762841949	2/5	PASS	ENST00000538775	Transcript	.	.	ENSG00000144959	29260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	tolerated(0.81)	.	.	NCEH1	HGNC	F5H7K4_HUMAN	.	UPI000199A4B7	SNV	NCEH1,missense_variant,p.His90Tyr,ENST00000538775,;NCEH1,missense_variant,p.His81Tyr,ENST00000424772,;NCEH1,missense_variant,p.His58Tyr,ENST00000475381,;NCEH1,missense_variant,p.His90Tyr,ENST00000273512,;NCEH1,intron_variant,,ENST00000543711,;AC007919.2,downstream_gene_variant,,ENST00000598405,;NCEH1,intron_variant,,ENST00000421723,;	406	134	71	SUCCESS
IQCF3	401067	.	GRCh37	3	51863472	51863472	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	38	272	0	ENST00000437810.2:c.-20C>A		p.*7*	ENST00000437810	NM_001085479.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46837.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACCTGAAC	NONE	.	.	.	.	.	ENSP00000415609	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000456080	Transcript	.	.	ENSG00000229972	31816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQCF3_HUMAN	IQCF3	HGNC	B2RUV0_HUMAN	.	UPI000015EE9E	SNV	IQCF3,5_prime_UTR_variant,,ENST00000437810,;IQCF3,5_prime_UTR_variant,,ENST00000444293,;IQCF3,5_prime_UTR_variant,,ENST00000456080,;IQCF3,5_prime_UTR_variant,,ENST00000440739,;IQCF3,5_prime_UTR_variant,,ENST00000446775,;IQCF3,non_coding_transcript_exon_variant,,ENST00000472485,;IQCF3,upstream_gene_variant,,ENST00000462079,;IQCF3,non_coding_transcript_exon_variant,,ENST00000474242,;IQCF3,non_coding_transcript_exon_variant,,ENST00000465028,;	1146	272	177	SUCCESS
SLIT3	6586	.	GRCh37	5	168189663	168189663	+	synonymous_variant	Silent	SNP	G	G	A	rs187066924	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	110	0	ENST00000519560.1:c.1491C>T	p.Ser497=	p.S497=	ENST00000519560	NM_003062.3	497	agC/agT	0	A:0	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS4369.1	1491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCGCTGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15	A:0	A:0.0001	ENSP00000430333	A:0.001	15/36	.	.	.	.	.	.	.	.	rs187066924	15/36	PASS	ENST00000519560	Transcript	.	A:0.0002	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	1911	111	52	SUCCESS
NUP214	8021	.	GRCh37	9	134053778	134053778	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776088512	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	77	0	ENST00000359428.5:c.3400A>G	p.Thr1134Ala	p.T1134A	ENST00000359428	NM_005085.3	1134	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS6940.1	3400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAACCCCT	NONE	byFrequency	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	.	.	ENSP00000352400	.	24/36	.	.	.	.	.	.	.	.	rs776088512	24/36	PASS	ENST00000359428	Transcript	.	.	ENSG00000126883	8064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	.	.	NU214_HUMAN	NUP214	HGNC	H0YDI2_HUMAN,E9PS86_HUMAN	.	UPI00001BBB2F	SNV	NUP214,missense_variant,p.Thr1135Ala,ENST00000451030,;NUP214,missense_variant,p.Thr1134Ala,ENST00000359428,;NUP214,missense_variant,p.Thr1124Ala,ENST00000411637,;NUP214,non_coding_transcript_exon_variant,,ENST00000531929,;NUP214,missense_variant,p.Thr132Ala,ENST00000526346,;NUP214,non_coding_transcript_exon_variant,,ENST00000525980,;	3544	78	46	SUCCESS
COL4A5	1287	.	GRCh37	X	107823959	107823959	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	108	0	ENST00000361603.2:c.882A>G	p.Pro294=	p.P294=	ENST00000361603	NM_000495.4	294	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS35366.1	882	MUTECT|MUSE	.	GAGCCAGGCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000331902	.	15/53	.	.	.	.	.	.	.	.	.	15/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,synonymous_variant,p.%3D,ENST00000328300,;COL4A5,synonymous_variant,p.%3D,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000483338,;	1126	108	77	SUCCESS
IDI1	3422	.	GRCh37	10	1090122	1090123	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	INS	-	-	GGAAAAG	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	57	0	ENST00000381344.3:c.141-18_141-12dup		p.*47*	ENST00000381344	NM_004508.2			0	.	.	.	.	.	GGAAAAG	.	protein_coding	YES	CCDS7056.1	.	INDELOCATOR|VARSCANI	.	ATTAAAGGAAA	NONE	.	.	.	.	.	ENSP00000370748	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381344	Transcript	.	.	ENSG00000067064	5387	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IDI1_HUMAN	IDI1	HGNC	C9JKM8_HUMAN	.	UPI0000231C9C	insertion	IDI1,intron_variant,,ENST00000427898,;IDI1,intron_variant,,ENST00000429642,;IDI1,intron_variant,,ENST00000381344,;RNU7-163P,upstream_gene_variant,,ENST00000459467,;IDI2-AS1,non_coding_transcript_exon_variant,,ENST00000437374,;IDI2-AS1,non_coding_transcript_exon_variant,,ENST00000428780,;IDI2-AS1,non_coding_transcript_exon_variant,,ENST00000536039,;IDI2-AS1,downstream_gene_variant,,ENST00000420381,;IDI1,intron_variant,,ENST00000482091,;IDI1,intron_variant,,ENST00000491735,;	.	57	76	SUCCESS
MCMBP	79892	.	GRCh37	10	121616890	121616890	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780333288	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	42	100	0	ENST00000360003.3:c.389A>G	p.Tyr130Cys	p.Y130C	ENST00000360003	NM_001256378.1	130	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7617.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAATAGAAA	NONE	byFrequency	.	Pfam_domain:PF09739,hmmpanther:PTHR13489,hmmpanther:PTHR13489:SF0	.	.	ENSP00000353098	.	5/16	.	.	.	.	.	.	.	.	rs780333288	5/16	PASS	ENST00000360003	Transcript	.	.	ENSG00000197771	25782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MCMBP_HUMAN	MCMBP	HGNC	.	.	UPI0000070023	SNV	MCMBP,missense_variant,p.Tyr130Cys,ENST00000360003,;MCMBP,missense_variant,p.Tyr130Cys,ENST00000369077,;MCMBP,non_coding_transcript_exon_variant,,ENST00000466047,;MCMBP,non_coding_transcript_exon_variant,,ENST00000495407,;MCMBP,downstream_gene_variant,,ENST00000569515,;	559	100	116	SUCCESS
LRRC27	80313	.	GRCh37	10	134161592	134161592	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	88	0	ENST00000368613.4:c.658C>T	p.Pro220Ser	p.P220S	ENST00000368613	NM_001143757.1	220	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS31316.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCCAGAG	NONE	.	.	hmmpanther:PTHR23155:SF255,hmmpanther:PTHR23155	.	.	ENSP00000357603	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000368614	Transcript	.	.	ENSG00000148814	29346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	tolerated(0.28)	.	LRC27_HUMAN	LRRC27	HGNC	.	.	UPI0000141386	SNV	LRRC27,missense_variant,p.Pro220Ser,ENST00000368614,;LRRC27,missense_variant,p.Pro220Ser,ENST00000344079,;LRRC27,missense_variant,p.Pro220Ser,ENST00000368615,;LRRC27,missense_variant,p.Pro220Ser,ENST00000368613,;LRRC27,missense_variant,p.Pro220Ser,ENST00000392638,;LRRC27,missense_variant,p.Pro158Ser,ENST00000368612,;LRRC27,missense_variant,p.Pro93Ser,ENST00000432555,;LRRC27,missense_variant,p.Pro158Ser,ENST00000368610,;LRRC27,missense_variant,p.Pro172Ser,ENST00000450442,;LRRC27,3_prime_UTR_variant,,ENST00000356571,;LRRC27,non_coding_transcript_exon_variant,,ENST00000490055,;LRRC27,non_coding_transcript_exon_variant,,ENST00000462656,;LRRC27,upstream_gene_variant,,ENST00000472556,;LRRC27,downstream_gene_variant,,ENST00000489204,;LRRC27,upstream_gene_variant,,ENST00000475747,;LRRC27,upstream_gene_variant,,ENST00000472387,;	763	88	96	SUCCESS
ANKRD26	22852	.	GRCh37	10	27337837	27337837	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	69	175	0	ENST00000376087.4:c.1707T>G	p.Thr569=	p.T569=	ENST00000376087	NM_014915.2	569	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41499.1	1707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCAGTAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,synonymous_variant,p.%3D,ENST00000376087,;ANKRD26,synonymous_variant,p.%3D,ENST00000376070,;ANKRD26,synonymous_variant,p.%3D,ENST00000436985,;ANKRD26,upstream_gene_variant,,ENST00000490015,;	1873	175	224	SUCCESS
ZNF22	7570	.	GRCh37	10	45499035	45499035	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	43	0	ENST00000298299.3:c.219C>A	p.His73Gln	p.H73Q	ENST00000298299	NM_006963.4	73	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS7211.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACACCAGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000298299	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298299	Transcript	.	.	ENSG00000165512	13012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZNF22_HUMAN	ZNF22	HGNC	.	.	UPI0000001C08	SNV	ZNF22,missense_variant,p.His73Gln,ENST00000298299,;C10orf25,upstream_gene_variant,,ENST00000298298,;CEP164P1,non_coding_transcript_exon_variant,,ENST00000456938,;	812	43	41	SUCCESS
ALOX5	240	.	GRCh37	10	45891384	45891384	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs778612367	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	37	134	0	ENST00000374391.2:c.431G>T	p.Arg144Leu	p.R144L	ENST00000374391	NM_000698.3	144	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7212.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCGGTGAG	NONE	byFrequency	.	PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Superfamily_domains:SSF48484,Prints_domain:PR00467	.	.	ENSP00000363512	.	3/14	.	.	.	.	.	.	.	.	rs778612367	3/14	PASS	ENST00000374391	Transcript	.	.	ENSG00000012779	435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.686)	.	deleterious(0)	.	LOX5_HUMAN	ALOX5	HGNC	E5FPY7_HUMAN	.	UPI0000043F84	SNV	ALOX5,missense_variant,p.Arg144Leu,ENST00000374391,;ALOX5,missense_variant,p.Arg144Leu,ENST00000542434,;	484	134	117	SUCCESS
TUBAL3	79861	.	GRCh37	10	5437356	5437356	+	synonymous_variant	Silent	SNP	G	G	A	rs141292428	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	29	123	0	ENST00000380419.3:c.330C>T	p.Tyr110=	p.Y110=	ENST00000380419	NM_024803.2	110	taC/taT	0	A:0.0036	A:0.0053	.	A:0	.	A	Y	protein_coding	YES	CCDS7066.2	330	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGTAATT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF77,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	A:0	A:0	ENSP00000369784	A:0	3/4	.	.	.	.	.	.	.	.	rs141292428,COSM3375485	3/4	common_in_exac	ENST00000380419	Transcript	.	A:0.0014	ENSG00000178462	23534	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0	.	0,1	TBAL3_HUMAN	TUBAL3	HGNC	.	.	UPI00000497AE	SNV	TUBAL3,synonymous_variant,p.%3D,ENST00000479328,;TUBAL3,synonymous_variant,p.%3D,ENST00000380419,;	368	123	106	SUCCESS
HSPB2	3316	.	GRCh37	11	111784419	111784419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	51	119	1	ENST00000304298.3:c.349T>C	p.Phe117Leu	p.F117L	ENST00000304298	NM_001541.3	117	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS8352.1	349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTTCTGC	NONE	.	.	PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF30,Pfam_domain:PF00011,Gene3D:2.60.40.790,PIRSF_domain:PIRSF036514,Superfamily_domains:SSF49764,Prints_domain:PR00299	.	.	ENSP00000302476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304298	Transcript	.	.	ENSG00000170276	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	HSPB2_HUMAN	HSPB2	Uniprot_gn	A8KAH6_HUMAN	.	UPI000000D8EF	SNV	HSPB2,missense_variant,p.Phe117Leu,ENST00000537382,;HSPB2,missense_variant,p.Phe117Leu,ENST00000304298,;CRYAB,5_prime_UTR_variant,,ENST00000533475,;CRYAB,intron_variant,,ENST00000527950,;CRYAB,upstream_gene_variant,,ENST00000533879,;CRYAB,upstream_gene_variant,,ENST00000227251,;CRYAB,upstream_gene_variant,,ENST00000533971,;CRYAB,upstream_gene_variant,,ENST00000527899,;CRYAB,upstream_gene_variant,,ENST00000526180,;CRYAB,upstream_gene_variant,,ENST00000528961,;CRYAB,upstream_gene_variant,,ENST00000525823,;CRYAB,upstream_gene_variant,,ENST00000529647,;CRYAB,upstream_gene_variant,,ENST00000526167,;CRYAB,upstream_gene_variant,,ENST00000528628,;C11orf52,upstream_gene_variant,,ENST00000529342,;CRYAB,upstream_gene_variant,,ENST00000533280,;CRYAB,upstream_gene_variant,,ENST00000524660,;CRYAB,upstream_gene_variant,,ENST00000531198,;HSPB2-C11orf52,missense_variant,p.Phe117Leu,ENST00000527616,;HSPB2-C11orf52,intron_variant,,ENST00000534100,;	937	120	124	SUCCESS
ZW10	9183	.	GRCh37	11	113619110	113619110	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	62	156	0	ENST00000200135.3:c.958A>C	p.Lys320Gln	p.K320Q	ENST00000200135	NM_004724.3	320	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS8363.1	958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTTTCAT	NONE	.	.	hmmpanther:PTHR12205:SF0,hmmpanther:PTHR12205,Pfam_domain:PF06248	.	.	ENSP00000200135	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000200135	Transcript	.	.	ENSG00000086827	13194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	tolerated(0.05)	.	ZW10_HUMAN	ZW10	HGNC	B4E1J7_HUMAN,A1A528_HUMAN	.	UPI000013C491	SNV	ZW10,missense_variant,p.Lys320Gln,ENST00000200135,;ZW10,missense_variant,p.Lys320Gln,ENST00000535142,;ZW10,3_prime_UTR_variant,,ENST00000538209,;RP11-667M19.1,downstream_gene_variant,,ENST00000479709,;	1103	156	183	SUCCESS
CSNK2A3	283106	.	GRCh37	11	11373655	11373655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	88	0	ENST00000528848.2:c.1012A>G	p.Ser338Gly	p.S338G	ENST00000528848	NM_001256686.1	338	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS59224.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCTAGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054	.	.	ENSP00000473553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000528848	Transcript	.	.	ENSG00000254598	2458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.19)	.	CSK23_HUMAN	CSNK2A3	HGNC	.	.	UPI00001F9D63	SNV	CSNK2A3,missense_variant,p.Ser338Gly,ENST00000528848,;GALNT18,intron_variant,,ENST00000227756,;RP11-567I13.1,upstream_gene_variant,,ENST00000526867,;	1250	88	91	SUCCESS
ZBTB16	7704	.	GRCh37	11	114113007	114113007	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	41	107	0	ENST00000335953.4:c.1572C>T	p.Asn524=	p.N524=	ENST00000335953	NM_006006.4	524	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS8367.1	1572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACCGCAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF425,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000338157	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000335953	Transcript	.	.	ENSG00000109906	12930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT16_HUMAN	ZBTB16	HGNC	Q71UL7_HUMAN,Q71UL6_HUMAN,Q71UL5_HUMAN,F5H6C3_HUMAN,F5H5Y7_HUMAN	.	UPI000000018E	SNV	ZBTB16,synonymous_variant,p.%3D,ENST00000392996,;ZBTB16,synonymous_variant,p.%3D,ENST00000335953,;RP11-64D24.2,intron_variant,,ENST00000544925,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000545851,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000535379,;ZBTB16,3_prime_UTR_variant,,ENST00000539918,;ZBTB16,upstream_gene_variant,,ENST00000535509,;	1952	107	107	SUCCESS
TNNI2	7136	.	GRCh37	11	1860927	1860927	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	119	0	ENST00000252898.7:c.1A>T	p.Met1?	p.M1?	ENST00000252898		1	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS31333.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGATGGGA	NONE	.	.	hmmpanther:PTHR13738:SF2,hmmpanther:PTHR13738	.	.	ENSP00000371331	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000381906	Transcript	.	.	ENSG00000130598	11946	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.13)	.	TNNI2_HUMAN	TNNI2	HGNC	.	.	UPI0000001605	SNV	TNNI2,start_lost,p.Met1?,ENST00000381911,;TNNI2,start_lost,p.Met1?,ENST00000252898,;TNNI2,start_lost,p.Met1?,ENST00000381906,;SYT8,downstream_gene_variant,,ENST00000430303,;SYT8,downstream_gene_variant,,ENST00000417052,;SYT8,downstream_gene_variant,,ENST00000381968,;SYT8,downstream_gene_variant,,ENST00000535046,;TNNI2,upstream_gene_variant,,ENST00000381905,;SYT8,downstream_gene_variant,,ENST00000436964,;SYT8,downstream_gene_variant,,ENST00000341958,;SYT8,downstream_gene_variant,,ENST00000381978,;SYT8,downstream_gene_variant,,ENST00000483280,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000479276,;SYT8,downstream_gene_variant,,ENST00000424556,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000490707,;SYT8,downstream_gene_variant,,ENST00000482118,;SYT8,downstream_gene_variant,,ENST00000464897,;TNNI2,upstream_gene_variant,,ENST00000468473,;SYT8,downstream_gene_variant,,ENST00000479089,;	70	119	86	SUCCESS
PDHX	8050	.	GRCh37	11	35006206	35006206	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	24	128	0	ENST00000227868.4:c.1113A>C	p.Lys371Asn	p.K371N	ENST00000227868		371	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS7896.1	1113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAAGGCTT	NONE	.	.	Superfamily_domains:SSF52777,Pfam_domain:PF00198,Gene3D:3.30.559.10,hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF52	.	.	ENSP00000227868	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000227868	Transcript	.	.	ENSG00000110435	21350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	.	tolerated(0.16)	.	ODPX_HUMAN	PDHX	HGNC	E9PLU0_HUMAN	.	UPI0000130C34	SNV	PDHX,missense_variant,p.Lys59Asn,ENST00000526309,;PDHX,missense_variant,p.Lys356Asn,ENST00000448838,;PDHX,missense_variant,p.Lys144Asn,ENST00000430469,;PDHX,missense_variant,p.Lys371Asn,ENST00000227868,;PDHX,non_coding_transcript_exon_variant,,ENST00000477173,;PDHX,non_coding_transcript_exon_variant,,ENST00000532159,;	1197	128	117	SUCCESS
TTC17	55761	.	GRCh37	11	43411274	43411274	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs567857161	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	61	183	0	ENST00000039989.4:c.322A>G	p.Asn108Asp	p.N108D	ENST00000039989	NM_018259.5	108	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS31466.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATAATAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR16091	.	.	ENSP00000039989	.	3/24	.	.	.	.	.	.	.	.	rs567857161	3/24	PASS	ENST00000039989	Transcript	.	.	ENSG00000052841	25596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	.	tolerated(0.81)	.	TTC17_HUMAN	TTC17	HGNC	.	.	UPI000006E6C7	SNV	TTC17,missense_variant,p.Asn108Asp,ENST00000039989,;TTC17,missense_variant,p.Asn108Asp,ENST00000299240,;RP11-484D2.5,upstream_gene_variant,,ENST00000530042,;RP11-484D2.4,upstream_gene_variant,,ENST00000394183,;TTC17,3_prime_UTR_variant,,ENST00000534347,;TTC17,non_coding_transcript_exon_variant,,ENST00000530469,;	336	183	198	SUCCESS
TMEM138	51524	.	GRCh37	11	61131920	61131920	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	46	119	0	ENST00000278826.6:c.58T>C	p.Tyr20His	p.Y20H	ENST00000278826	NM_016464.4	20	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS8005.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTATGAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13306,hmmpanther:PTHR13306:SF6	.	.	ENSP00000278826	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000278826	Transcript	.	.	ENSG00000149483	26944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	tolerated(0.2)	.	TM138_HUMAN	TMEM138	HGNC	J3QSZ6_HUMAN	.	UPI0000037795	SNV	TMEM138,missense_variant,p.Tyr20His,ENST00000278826,;TMEM138,missense_variant,p.Tyr20His,ENST00000542946,;TMEM138,upstream_gene_variant,,ENST00000381787,;CYB561A3,upstream_gene_variant,,ENST00000537364,;CYB561A3,upstream_gene_variant,,ENST00000426130,;CYB561A3,upstream_gene_variant,,ENST00000545361,;CYB561A3,upstream_gene_variant,,ENST00000294072,;CYB561A3,upstream_gene_variant,,ENST00000546151,;CYB561A3,upstream_gene_variant,,ENST00000537680,;CYB561A3,upstream_gene_variant,,ENST00000539128,;CYB561A3,upstream_gene_variant,,ENST00000447532,;CYB561A3,upstream_gene_variant,,ENST00000544118,;TMEM138,non_coding_transcript_exon_variant,,ENST00000545420,;TMEM138,non_coding_transcript_exon_variant,,ENST00000540194,;TMEM138,non_coding_transcript_exon_variant,,ENST00000451389,;CYB561A3,upstream_gene_variant,,ENST00000538263,;CYB561A3,upstream_gene_variant,,ENST00000540317,;CYB561A3,upstream_gene_variant,,ENST00000536687,;CYB561A3,upstream_gene_variant,,ENST00000535152,;TMEM138,non_coding_transcript_exon_variant,,ENST00000507563,;TMEM138,non_coding_transcript_exon_variant,,ENST00000543594,;TMEM138,non_coding_transcript_exon_variant,,ENST00000534963,;TMEM138,intron_variant,,ENST00000423772,;TMEM138,upstream_gene_variant,,ENST00000543833,;CYB561A3,upstream_gene_variant,,ENST00000540755,;CYB561A3,upstream_gene_variant,,ENST00000542411,;TMEM138,upstream_gene_variant,,ENST00000539776,;	617	119	137	SUCCESS
C11orf42	160298	.	GRCh37	11	6231167	6231167	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	96	0	ENST00000316375.2:c.160A>C	p.Lys54Gln	p.K54Q	ENST00000316375	NM_173525.2	54	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS7759.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAAAACAG	NONE	.	.	.	.	.	ENSP00000321021	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000316375	Transcript	.	.	ENSG00000180878	28541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.08)	.	CK042_HUMAN	C11orf42	HGNC	.	.	UPI000013FD81	SNV	C11orf42,missense_variant,p.Lys54Gln,ENST00000316375,;FAM160A2,downstream_gene_variant,,ENST00000265978,;FAM160A2,downstream_gene_variant,,ENST00000449352,;FAM160A2,downstream_gene_variant,,ENST00000529360,;	210	96	96	SUCCESS
TAF6L	10629	.	GRCh37	11	62554224	62554224	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs377750789	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	44	0	ENST00000294168.3:c.1325G>C	p.Arg442Pro	p.R442P	ENST00000294168	NM_006473.3	442	cGg/cCg	0	A:0	.	.	.	.	C	R/P	protein_coding	YES	CCDS8035.1	1325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCGGGAGC	NONE	.	.	hmmpanther:PTHR10221:SF9,hmmpanther:PTHR10221	.	A:0.0001	ENSP00000294168	.	11/11	.	.	.	.	.	.	.	.	rs377750789	11/11	PASS	ENST00000294168	Transcript	.	.	ENSG00000162227	17305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.286)	.	tolerated(0.27)	.	TAF6L_HUMAN	TAF6L	HGNC	E9PP94_HUMAN,E9PLV8_HUMAN	.	UPI00000720C0	SNV	TAF6L,missense_variant,p.Arg442Pro,ENST00000294168,;TMEM223,intron_variant,,ENST00000528367,;TMEM179B,upstream_gene_variant,,ENST00000526546,;TMEM179B,upstream_gene_variant,,ENST00000533861,;TMEM223,downstream_gene_variant,,ENST00000525631,;TMEM179B,upstream_gene_variant,,ENST00000333449,;TMEM223,downstream_gene_variant,,ENST00000307366,;RP11-727F15.12,non_coding_transcript_exon_variant,,ENST00000601484,;TMEM223,intron_variant,,ENST00000527073,;TMEM179B,upstream_gene_variant,,ENST00000532586,;TAF6L,downstream_gene_variant,,ENST00000533823,;TAF6L,downstream_gene_variant,,ENST00000531265,;TAF6L,downstream_gene_variant,,ENST00000524976,;TMEM179B,upstream_gene_variant,,ENST00000532345,;	1526	44	70	SUCCESS
SLC22A25	387601	.	GRCh37	11	62931493	62931493	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	84	276	0	ENST00000306494.6:c.1447G>T	p.Ala483Ser	p.A483S	ENST00000306494	NM_199352.3	483	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31592.1	1447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCCAGGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000307443	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000306494	Transcript	.	.	ENSG00000196600	32935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	tolerated(0.25)	.	S22AP_HUMAN	SLC22A25	HGNC	.	.	UPI00001A72A5	SNV	SLC22A25,missense_variant,p.Ala483Ser,ENST00000306494,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A25,downstream_gene_variant,,ENST00000403374,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A25,3_prime_UTR_variant,,ENST00000527057,;SLC22A25,3_prime_UTR_variant,,ENST00000528239,;SLC22A25,3_prime_UTR_variant,,ENST00000525295,;	1447	276	248	SUCCESS
VPS51	738	.	GRCh37	11	64877952	64877952	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	51	136	0	ENST00000279281.3:c.1879-2A>G		p.X627_splice	ENST00000279281	NM_013265.3	627		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8093.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGGTGG	NONE	.	.	.	.	.	ENSP00000279281	.	.	.	.	.	.	.	.	.	.	COSM1746457	.	PASS	ENST00000279281	Transcript	.	.	ENSG00000149823	1172	.	.	HIGH	7/9	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	VPS51_HUMAN	VPS51	HGNC	E9PMB6_HUMAN,E9PJ36_HUMAN	.	UPI000006D6D8	SNV	VPS51,splice_acceptor_variant,,ENST00000279281,;VPS51,splice_acceptor_variant,,ENST00000526856,;TM7SF2,upstream_gene_variant,,ENST00000530750,;TM7SF2,upstream_gene_variant,,ENST00000279263,;TM7SF2,upstream_gene_variant,,ENST00000526085,;TM7SF2,upstream_gene_variant,,ENST00000524986,;VPS51,upstream_gene_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000527968,;TM7SF2,upstream_gene_variant,,ENST00000345348,;TM7SF2,upstream_gene_variant,,ENST00000531321,;TM7SF2,upstream_gene_variant,,ENST00000528802,;TM7SF2,upstream_gene_variant,,ENST00000534371,;VPS51,downstream_gene_variant,,ENST00000530773,;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000526578,;TM7SF2,upstream_gene_variant,,ENST00000525385,;TM7SF2,upstream_gene_variant,,ENST00000529414,;VPS51,downstream_gene_variant,,ENST00000528588,;TM7SF2,upstream_gene_variant,,ENST00000526809,;TM7SF2,upstream_gene_variant,,ENST00000540748,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.9,downstream_gene_variant,,ENST00000528887,;VPS51,splice_acceptor_variant,,ENST00000527646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;TM7SF2,upstream_gene_variant,,ENST00000533646,;VPS51,splice_acceptor_variant,,ENST00000533827,;VPS51,non_coding_transcript_exon_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000529601,;TM7SF2,upstream_gene_variant,,ENST00000533766,;TM7SF2,upstream_gene_variant,,ENST00000528026,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000532328,;TM7SF2,upstream_gene_variant,,ENST00000529292,;TM7SF2,upstream_gene_variant,,ENST00000526048,;TM7SF2,upstream_gene_variant,,ENST00000527851,;VPS51,downstream_gene_variant,,ENST00000534124,;TM7SF2,upstream_gene_variant,,ENST00000524690,;VPS51,downstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000530650,;TM7SF2,upstream_gene_variant,,ENST00000530892,;VPS51,downstream_gene_variant,,ENST00000533656,;VPS51,downstream_gene_variant,,ENST00000533487,;TM7SF2,upstream_gene_variant,,ENST00000534667,;	.	136	132	SUCCESS
SCYL1	57410	.	GRCh37	11	65293085	65293085	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	34	99	0	ENST00000270176.5:c.152A>C	p.Lys51Thr	p.K51T	ENST00000270176	NM_020680.3	51	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS41672.1	152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAAGCCTG	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984,PROSITE_profiles:PS50011	.	.	ENSP00000270176	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000270176	Transcript	.	.	ENSG00000142186	14372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	tolerated(0.05)	.	NTKL_HUMAN	SCYL1	HGNC	E9PPN3_HUMAN	.	UPI0000035B94	SNV	SCYL1,missense_variant,p.Lys51Thr,ENST00000525364,;SCYL1,missense_variant,p.Lys51Thr,ENST00000524944,;SCYL1,missense_variant,p.Lys51Thr,ENST00000533862,;SCYL1,missense_variant,p.Lys51Thr,ENST00000420247,;SCYL1,missense_variant,p.Lys51Thr,ENST00000270176,;SCYL1,missense_variant,p.Lys51Thr,ENST00000279270,;SCYL1,5_prime_UTR_variant,,ENST00000527009,;	229	99	108	SUCCESS
PC	5091	.	GRCh37	11	66618658	66618658	+	synonymous_variant	Silent	SNP	C	C	G	rs753064456	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	43	0	ENST00000393955.2:c.2076G>C	p.Ala692=	p.A692=	ENST00000393955	NM_022172.2	692	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8152.1	2076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCGCCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF51569,PIRSF_domain:PIRSF001594,Gene3D:3.20.20.70,TIGRFAM_domain:TIGR01235,Pfam_domain:PF00682,hmmpanther:PTHR18866,PROSITE_profiles:PS50991	.	.	ENSP00000377532	.	17/23	.	.	.	.	.	.	.	.	rs753064456	17/23	PASS	ENST00000393960	Transcript	.	.	ENSG00000173599	8636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYC_HUMAN	PC	HGNC	E9PS68_HUMAN	.	UPI0000132BC4	SNV	PC,synonymous_variant,p.%3D,ENST00000393960,;PC,synonymous_variant,p.%3D,ENST00000393958,;PC,synonymous_variant,p.%3D,ENST00000393955,;RCE1,downstream_gene_variant,,ENST00000525356,;RCE1,downstream_gene_variant,,ENST00000309657,;RCE1,downstream_gene_variant,,ENST00000524506,;PC,upstream_gene_variant,,ENST00000529047,;PC,non_coding_transcript_exon_variant,,ENST00000530259,;PC,upstream_gene_variant,,ENST00000528224,;PC,upstream_gene_variant,,ENST00000529352,;RCE1,downstream_gene_variant,,ENST00000533277,;RCE1,downstream_gene_variant,,ENST00000524849,;	2358	43	60	SUCCESS
RAD9A	5883	.	GRCh37	11	67163617	67163617	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	132	0	ENST00000307980.2:c.705T>A	p.Asn235Lys	p.N235K	ENST00000307980	NM_004584.2	235	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS8159.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAATCTTAG	NONE	.	.	hmmpanther:PTHR15237,hmmpanther:PTHR15237:SF1,Gene3D:3.70.10.10,Pfam_domain:PF04139,PIRSF_domain:PIRSF009303	.	.	ENSP00000311360	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000307980	Transcript	.	.	ENSG00000172613	9827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	deleterious(0)	.	RAD9A_HUMAN	RAD9A	HGNC	C4TNW8_HUMAN,C4TNW7_HUMAN	.	UPI000006D789	SNV	RAD9A,missense_variant,p.Asn221Lys,ENST00000544620,;RAD9A,missense_variant,p.Asn235Lys,ENST00000307980,;PPP1CA,downstream_gene_variant,,ENST00000358239,;PPP1CA,downstream_gene_variant,,ENST00000542876,;PPP1CA,downstream_gene_variant,,ENST00000376745,;PPP1CA,downstream_gene_variant,,ENST00000546202,;PPP1CA,downstream_gene_variant,,ENST00000527663,;PPP1CA,downstream_gene_variant,,ENST00000312989,;RNU6-1238P,upstream_gene_variant,,ENST00000517215,;RAD9A,non_coding_transcript_exon_variant,,ENST00000529100,;RAD9A,non_coding_transcript_exon_variant,,ENST00000535644,;PPP1CA,downstream_gene_variant,,ENST00000532279,;PPP1CA,downstream_gene_variant,,ENST00000532446,;PPP1CA,downstream_gene_variant,,ENST00000537694,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,downstream_gene_variant,,ENST00000529724,;RAD9A,3_prime_UTR_variant,,ENST00000538013,;RAD9A,non_coding_transcript_exon_variant,,ENST00000530934,;RAD9A,downstream_gene_variant,,ENST00000542139,;RAD9A,downstream_gene_variant,,ENST00000541132,;PPP1CA,downstream_gene_variant,,ENST00000526510,;	798	132	131	SUCCESS
RAD9A	5883	.	GRCh37	11	67163618	67163618	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs185216264	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	47	128	0	ENST00000307980.2:c.706C>G	p.Leu236Val	p.L236V	ENST00000307980	NM_004584.2	236	Ctt/Gtt	0	.	T:0	.	T:0.0014	.	G	L/V	protein_coding	YES	CCDS8159.1	706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCTTAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15237,hmmpanther:PTHR15237:SF1,Gene3D:3.70.10.10,Pfam_domain:PF04139,PIRSF_domain:PIRSF009303	T:0	.	ENSP00000311360	T:0	8/11	.	.	.	.	.	.	.	.	rs185216264	8/11	PASS	ENST00000307980	Transcript	.	T:0.0002	ENSG00000172613	9827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	T:0	tolerated(0.89)	.	RAD9A_HUMAN	RAD9A	HGNC	C4TNW8_HUMAN,C4TNW7_HUMAN	.	UPI000006D789	SNV	RAD9A,missense_variant,p.Leu222Val,ENST00000544620,;RAD9A,missense_variant,p.Leu236Val,ENST00000307980,;PPP1CA,downstream_gene_variant,,ENST00000358239,;PPP1CA,downstream_gene_variant,,ENST00000542876,;PPP1CA,downstream_gene_variant,,ENST00000376745,;PPP1CA,downstream_gene_variant,,ENST00000546202,;PPP1CA,downstream_gene_variant,,ENST00000527663,;PPP1CA,downstream_gene_variant,,ENST00000312989,;RNU6-1238P,upstream_gene_variant,,ENST00000517215,;RAD9A,non_coding_transcript_exon_variant,,ENST00000529100,;RAD9A,non_coding_transcript_exon_variant,,ENST00000535644,;PPP1CA,downstream_gene_variant,,ENST00000532279,;PPP1CA,downstream_gene_variant,,ENST00000532446,;PPP1CA,downstream_gene_variant,,ENST00000537694,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,downstream_gene_variant,,ENST00000529724,;RAD9A,3_prime_UTR_variant,,ENST00000538013,;RAD9A,non_coding_transcript_exon_variant,,ENST00000530934,;RAD9A,downstream_gene_variant,,ENST00000542139,;RAD9A,downstream_gene_variant,,ENST00000541132,;PPP1CA,downstream_gene_variant,,ENST00000526510,;	799	128	130	SUCCESS
ZNF215	7762	.	GRCh37	11	6977459	6977459	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	36	0	ENST00000278319.5:c.1251C>A	p.Asn417Lys	p.N417K	ENST00000278319	NM_013250.2	417	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS7775.1	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACCGACG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000278319	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000278319	Transcript	.	.	ENSG00000149054	13007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ZN215_HUMAN	ZNF215	HGNC	.	.	UPI000013DB6D	SNV	ZNF215,missense_variant,p.Asn417Lys,ENST00000414517,;ZNF215,missense_variant,p.Asn417Lys,ENST00000278319,;ZNF215,intron_variant,,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000532533,;ZNF215,downstream_gene_variant,,ENST00000529755,;ZNF215,downstream_gene_variant,,ENST00000527171,;	1839	36	40	SUCCESS
EID3	493861	.	GRCh37	12	104698075	104698075	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	73	200	0	ENST00000527879.1:c.363C>T	p.Asp121=	p.D121=	ENST00000527879	NM_001008394.2	121	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS53822.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACTTTCT	NONE	.	.	hmmpanther:PTHR16140:SF1,hmmpanther:PTHR16140,Pfam_domain:PF15412	.	.	ENSP00000435619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527879	Transcript	.	.	ENSG00000255150	32961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EID3_HUMAN	EID3	HGNC	.	.	UPI000007080F	SNV	EID3,synonymous_variant,p.%3D,ENST00000527879,;TXNRD1,intron_variant,,ENST00000526580,;TXNRD1,intron_variant,,ENST00000354940,;TXNRD1,intron_variant,,ENST00000388854,;TXNRD1,intron_variant,,ENST00000529546,;TXNRD1,intron_variant,,ENST00000526691,;TXNRD1,intron_variant,,ENST00000524698,;TXNRD1,intron_variant,,ENST00000526266,;TXNRD1,intron_variant,,ENST00000527335,;TXNRD1,intron_variant,,ENST00000526390,;TXNRD1,intron_variant,,ENST00000429002,;TXNRD1,intron_variant,,ENST00000531691,;TXNRD1,intron_variant,,ENST00000528079,;TXNRD1,intron_variant,,ENST00000397736,;TXNRD1,intron_variant,,ENST00000503506,;TXNRD1,intron_variant,,ENST00000525566,;TXNRD1,intron_variant,,ENST00000529784,;TXNRD1,intron_variant,,ENST00000542918,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,intron_variant,,ENST00000540716,;TXNRD1,intron_variant,,ENST00000378070,;TXNRD1,intron_variant,,ENST00000531689,;TXNRD1,intron_variant,,ENST00000527688,;	559	200	225	SUCCESS
SART3	9733	.	GRCh37	12	108932816	108932816	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	59	132	0	ENST00000228284.3:c.956T>G	p.Phe319Cys	p.F319C	ENST00000228284	NM_014706.3	319	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS9117.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAAAATCG	NONE	.	.	Superfamily_domains:SSF48452,hmmpanther:PTHR23269,hmmpanther:PTHR23269:SF0	.	.	ENSP00000228284	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000228284	Transcript	.	.	ENSG00000075856	16860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	SART3_HUMAN	SART3	HGNC	H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN	.	UPI000006D72B	SNV	SART3,missense_variant,p.Phe319Cys,ENST00000228284,;SART3,missense_variant,p.Phe319Cys,ENST00000431469,;SART3,missense_variant,p.Phe337Cys,ENST00000546815,;SART3,downstream_gene_variant,,ENST00000550322,;SART3,missense_variant,p.Phe319Cys,ENST00000546728,;SART3,3_prime_UTR_variant,,ENST00000547528,;SART3,upstream_gene_variant,,ENST00000546808,;SART3,upstream_gene_variant,,ENST00000548119,;SART3,downstream_gene_variant,,ENST00000551416,;SART3,upstream_gene_variant,,ENST00000548077,;	1191	132	150	SUCCESS
SH2B3	10019	.	GRCh37	12	111884570	111884570	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	118	0	ENST00000341259.2:c.746A>C	p.Lys249Thr	p.K249T	ENST00000341259	NM_005475.2	249	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS9153.1	746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAAGCTAC	NONE	.	.	hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF1,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000345492	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000341259	Transcript	.	.	ENSG00000111252	29605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0.03)	.	SH2B3_HUMAN	SH2B3	HGNC	.	.	UPI000012E798	SNV	SH2B3,missense_variant,p.Lys249Thr,ENST00000341259,;SH2B3,missense_variant,p.Lys47Thr,ENST00000538307,;SH2B3,downstream_gene_variant,,ENST00000550925,;	1103	119	111	SUCCESS
ALG10B	144245	.	GRCh37	12	38714457	38714457	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	210	120	309	0	ENST00000308742.4:c.864T>C	p.Phe288=	p.F288=	ENST00000308742	NM_001013620.3	288	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS31772.1	864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTCCTCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12989:SF12,hmmpanther:PTHR12989,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810	.	.	ENSP00000310120	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308742	Transcript	.	.	ENSG00000175548	31088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AG10B_HUMAN	ALG10B	HGNC	.	.	UPI000013EDA4	SNV	ALG10B,synonymous_variant,p.%3D,ENST00000308742,;ALG10B,intron_variant,,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,3_prime_UTR_variant,,ENST00000548240,;ALG10B,downstream_gene_variant,,ENST00000553138,;	1180	309	331	SUCCESS
METTL7A	25840	.	GRCh37	12	51323788	51323788	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	18	120	0	ENST00000332160.4:c.591del	p.Leu198CysfsTer7	p.L198Cfs*7	ENST00000332160	NM_014033.3	197	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS8804.1	590	PINDEL|MUSE*|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|RADIA*|MUTECT*|VARSCANS*	.	GGCACCTTCTGT	NONE	.	.	hmmpanther:PTHR10108:SF734,hmmpanther:PTHR10108,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000448785	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000548553	Transcript	.	.	ENSG00000185432	24550	1	.	HIGH	.	PRIMARY	.	.	.	.	8	.	.	.	.	.	.	.	MET7A_HUMAN	METTL7A	HGNC	F8VQX6_HUMAN	.	UPI000003B00C	deletion	METTL7A,frameshift_variant,p.Leu198CysfsTer7,ENST00000332160,;METTL7A,frameshift_variant,p.Leu198CysfsTer7,ENST00000548553,;METTL7A,downstream_gene_variant,,ENST00000550502,;METTL7A,frameshift_variant,p.Leu198CysfsTer7,ENST00000546513,;METTL7A,frameshift_variant,p.Leu198CysfsTer7,ENST00000547104,;METTL7A,frameshift_variant,p.Leu198CysfsTer7,ENST00000550097,;	1571	120	97	SUCCESS
KRT79	338785	.	GRCh37	12	53227630	53227630	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140167313	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	58	171	0	ENST00000330553.5:c.415C>T	p.Arg139Cys	p.R139C	ENST00000330553	NM_175834.2	139	Cgc/Tgc	0	A:0	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS8839.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCGCACTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138	A:0	A:0.0002	ENSP00000328358	A:0.001	1/9	.	.	.	.	.	.	.	.	rs140167313,COSM1637789	1/9	PASS	ENST00000330553	Transcript	.	A:0.0002	ENSG00000185640	28930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	A:0	deleterious(0)	0,1	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,missense_variant,p.Arg139Cys,ENST00000330553,;KRT78,downstream_gene_variant,,ENST00000359499,;KRT79,upstream_gene_variant,,ENST00000546453,;RP11-153F5.3,upstream_gene_variant,,ENST00000550463,;	450	171	163	SUCCESS
ITGA7	3679	.	GRCh37	12	56089347	56089347	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	8	215	0	ENST00000555728.1:c.2094C>G	p.Phe698Leu	p.F698L	ENST00000555728		698	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS55832.1	1974	MUTECT|MUSE	.	GTACAGAAGCG	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179	.	.	ENSP00000452120	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,missense_variant,p.Phe561Leu,ENST00000452168,;ITGA7,missense_variant,p.Phe654Leu,ENST00000257879,;ITGA7,missense_variant,p.Phe658Leu,ENST00000553804,;ITGA7,missense_variant,p.Phe698Leu,ENST00000257880,;ITGA7,missense_variant,p.Phe654Leu,ENST00000394229,;ITGA7,missense_variant,p.Phe658Leu,ENST00000394230,;ITGA7,missense_variant,p.Phe698Leu,ENST00000555728,;ITGA7,missense_variant,p.Phe648Leu,ENST00000347027,;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,missense_variant,p.Phe74Leu,ENST00000554327,;ITGA7,non_coding_transcript_exon_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000555687,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,downstream_gene_variant,,ENST00000557488,;ITGA7,downstream_gene_variant,,ENST00000554543,;	1993	215	225	SUCCESS
CNPY2	10330	.	GRCh37	12	56708923	56708923	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	114	0	ENST00000273308.4:c.79C>T	p.His27Tyr	p.H27Y	ENST00000273308	NM_014255.5	27	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS8914.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGGAGAT	BUFFER|p.C28S|c.83G>C|3	.	.	Pfam_domain:PF11938,hmmpanther:PTHR13341,hmmpanther:PTHR13341:SF7,PROSITE_profiles:PS50015	.	.	ENSP00000273308	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000273308	Transcript	.	.	ENSG00000257727	13529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	CNPY2_HUMAN	CNPY2	HGNC	H0YI18_HUMAN,F8W1K5_HUMAN,F8VXJ7_HUMAN	.	UPI000004C630	SNV	CNPY2,missense_variant,p.His27Tyr,ENST00000551475,;RP11-977G19.10,missense_variant,p.His27Tyr,ENST00000549318,;RP11-977G19.10,missense_variant,p.His27Tyr,ENST00000548360,;RP11-977G19.10,missense_variant,p.His27Tyr,ENST00000547423,;CNPY2,missense_variant,p.His27Tyr,ENST00000273308,;CNPY2,intron_variant,,ENST00000551286,;PAN2,downstream_gene_variant,,ENST00000425394,;PAN2,downstream_gene_variant,,ENST00000257931,;PAN2,downstream_gene_variant,,ENST00000440411,;PAN2,downstream_gene_variant,,ENST00000548043,;RP11-977G19.11,downstream_gene_variant,,ENST00000549860,;RP11-977G19.11,downstream_gene_variant,,ENST00000549565,;CNPY2,non_coding_transcript_exon_variant,,ENST00000551720,;CNPY2,non_coding_transcript_exon_variant,,ENST00000551276,;PAN2,downstream_gene_variant,,ENST00000549090,;CNPY2,non_coding_transcript_exon_variant,,ENST00000547570,;CNPY2,non_coding_transcript_exon_variant,,ENST00000546388,;CNPY2,non_coding_transcript_exon_variant,,ENST00000548013,;CNPY2,non_coding_transcript_exon_variant,,ENST00000553164,;PAN2,downstream_gene_variant,,ENST00000547226,;PAN2,downstream_gene_variant,,ENST00000552630,;CNPY2,upstream_gene_variant,,ENST00000546937,;PAN2,downstream_gene_variant,,ENST00000550028,;PAN2,downstream_gene_variant,,ENST00000551359,;PAN2,downstream_gene_variant,,ENST00000553230,;PAN2,downstream_gene_variant,,ENST00000547100,;CNPY2,upstream_gene_variant,,ENST00000546466,;CNPY2,upstream_gene_variant,,ENST00000553191,;	620	114	115	SUCCESS
LRP1	4035	.	GRCh37	12	57601983	57601983	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	33	102	0	ENST00000243077.3:c.12022G>A	p.Val4008Met	p.V4008M	ENST00000243077	NM_002332.2	4008	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS8932.1	12022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGTGGAC	NONE	.	.	PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	77/89	.	.	.	.	.	.	.	.	.	77/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Val4008Met,ENST00000243077,;LRP1,downstream_gene_variant,,ENST00000555124,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000556247,;LRP1,downstream_gene_variant,,ENST00000451724,;	12488	102	115	SUCCESS
DDIT3	1649	.	GRCh37	12	57911095	57911095	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	76	0	ENST00000346473.3:c.95A>T	p.Asp32Val	p.D32V	ENST00000346473	NM_004083.5	32	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS55838.1	164	MUTECT|MUSE	.	TTTCATCTGAA	BUFFER|p.D32Y|c.94G>T|3	.	.	hmmpanther:PTHR16833:SF0,hmmpanther:PTHR16833,PIRSF_domain:PIRSF016571	.	.	ENSP00000448665	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000551116	Transcript	.	.	ENSG00000175197	2726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.925)	.	deleterious(0.02)	.	DDIT3_HUMAN	DDIT3	HGNC	Q53YD1_HUMAN,F8W133_HUMAN	.	UPI00001FC5F9	SNV	DDIT3,missense_variant,p.Asp32Val,ENST00000346473,;DDIT3,missense_variant,p.Asp55Val,ENST00000552740,;DDIT3,missense_variant,p.Asp55Val,ENST00000551116,;DDIT3,missense_variant,p.Asp55Val,ENST00000547526,;DDIT3,missense_variant,p.Asp32Val,ENST00000547303,;MARS,downstream_gene_variant,,ENST00000552914,;MARS,downstream_gene_variant,,ENST00000548944,;MARS,downstream_gene_variant,,ENST00000262027,;MBD6,upstream_gene_variant,,ENST00000548887,;MARS,downstream_gene_variant,,ENST00000315473,;MARS,downstream_gene_variant,,ENST00000547665,;MBD6,upstream_gene_variant,,ENST00000551351,;MBD6,upstream_gene_variant,,ENST00000546805,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,downstream_gene_variant,,ENST00000551172,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000552499,;MARS,downstream_gene_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000551805,;	432	76	71	SUCCESS
MON2	23041	.	GRCh37	12	62929480	62929480	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201313378	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	55	188	0	ENST00000393630.3:c.1891T>C	p.Ser631Pro	p.S631P	ENST00000393630		631	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31849.1	1891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTCCAAC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105	.	.	ENSP00000377252	.	14/35	.	.	.	.	.	.	.	.	rs201313378	14/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.34)	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,missense_variant,p.Ser631Pro,ENST00000546600,;MON2,missense_variant,p.Ser631Pro,ENST00000393630,;MON2,missense_variant,p.Ser631Pro,ENST00000280379,;MON2,missense_variant,p.Ser631Pro,ENST00000552115,;MON2,missense_variant,p.Ser631Pro,ENST00000393629,;MON2,missense_variant,p.Ser631Pro,ENST00000393632,;MON2,intron_variant,,ENST00000552738,;MON2,3_prime_UTR_variant,,ENST00000547095,;	2282	188	159	SUCCESS
NOP2	4839	.	GRCh37	12	6673088	6673088	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs555886597	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	71	0	ENST00000322166.5:c.499C>T	p.Arg167Trp	p.R167W	ENST00000322166	NM_001258308.1	167	Cgg/Tgg	0	.	A:0	.	A:0.0014	.	A	R/W	protein_coding	YES	CCDS58204.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGAGCAG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF30	A:0	.	ENSP00000371858	A:0	7/17	.	.	.	.	.	.	.	.	rs555886597	7/17	PASS	ENST00000382421	Transcript	.	A:0.0002	ENSG00000111641	7867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	A:0	deleterious(0)	.	NOP2_HUMAN	NOP2	HGNC	.	.	UPI00005C3039	SNV	NOP2,missense_variant,p.Arg163Trp,ENST00000399466,;NOP2,missense_variant,p.Arg167Trp,ENST00000536124,;NOP2,missense_variant,p.Arg167Trp,ENST00000322166,;NOP2,missense_variant,p.Arg43Trp,ENST00000542944,;NOP2,missense_variant,p.Arg200Trp,ENST00000382421,;NOP2,missense_variant,p.Arg163Trp,ENST00000542867,;NOP2,missense_variant,p.Arg167Trp,ENST00000537442,;NOP2,missense_variant,p.Arg163Trp,ENST00000545200,;NOP2,missense_variant,p.Arg163Trp,ENST00000541778,;NOP2,downstream_gene_variant,,ENST00000545915,;NOP2,downstream_gene_variant,,ENST00000540228,;NOP2,downstream_gene_variant,,ENST00000545492,;NOP2,intron_variant,,ENST00000542015,;NOP2,3_prime_UTR_variant,,ENST00000538420,;NOP2,non_coding_transcript_exon_variant,,ENST00000400580,;NOP2,upstream_gene_variant,,ENST00000537708,;NOP2,downstream_gene_variant,,ENST00000538697,;NOP2,upstream_gene_variant,,ENST00000544630,;NOP2,upstream_gene_variant,,ENST00000536506,;NOP2,downstream_gene_variant,,ENST00000546053,;NOP2,upstream_gene_variant,,ENST00000542919,;	674	71	71	SUCCESS
THAP2	83591	.	GRCh37	12	72070666	72070666	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	52	152	0	ENST00000308086.2:c.465C>T	p.Cys155=	p.C155=	ENST00000308086	NM_031435.3	155	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS9001.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCCTACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF10	.	.	ENSP00000310796	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308086	Transcript	.	.	ENSG00000173451	20854	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THAP2_HUMAN	THAP2	HGNC	F8W1B8_HUMAN,F8VYP5_HUMAN	.	UPI0000037B1F	SNV	THAP2,synonymous_variant,p.%3D,ENST00000551488,;THAP2,synonymous_variant,p.%3D,ENST00000308086,;THAP2,synonymous_variant,p.%3D,ENST00000551238,;RP11-293I14.2,intron_variant,,ENST00000548802,;	1966	152	157	SUCCESS
PHLDA1	22822	.	GRCh37	12	76425350	76425350	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	57	106	0	ENST00000266671.5:c.172G>A	p.Asp58Asn	p.D58N	ENST00000266671		58	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31861.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTCCTCTT	NONE	.	.	.	.	.	ENSP00000266671	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000266671	Transcript	.	.	ENSG00000139289	8933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.06)	.	PHLA1_HUMAN	PHLDA1	HGNC	R4GND3_HUMAN,A2BDE7_HUMAN	.	UPI000013D704	SNV	PHLDA1,missense_variant,p.Asp58Asn,ENST00000266671,;PHLDA1,5_prime_UTR_variant,,ENST00000602540,;RP11-290L1.3,downstream_gene_variant,,ENST00000552367,;RP11-290L1.2,upstream_gene_variant,,ENST00000547721,;	2363	106	135	SUCCESS
A2M	2	.	GRCh37	12	9221388	9221388	+	synonymous_variant	Silent	SNP	T	T	C	rs965842592	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	28	154	0	ENST00000318602.7:c.4314A>G	p.Pro1438=	p.P1438=	ENST00000318602	NM_000014.4	1438	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44827.1	4314	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACTGGGAC	NONE	.	.	hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412,Pfam_domain:PF07677,Gene3D:1ayoA00,Superfamily_domains:SSF49410	.	.	ENSP00000323929	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	SNV	A2M,synonymous_variant,p.%3D,ENST00000318602,;A2M,intron_variant,,ENST00000543436,;A2M-AS1,downstream_gene_variant,,ENST00000499762,;LINC00612,upstream_gene_variant,,ENST00000538094,;A2M,downstream_gene_variant,,ENST00000545828,;A2M,non_coding_transcript_exon_variant,,ENST00000495709,;A2M,non_coding_transcript_exon_variant,,ENST00000495442,;	4622	154	139	SUCCESS
TNFSF13B	10673	.	GRCh37	13	108922722	108922722	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	87	0	ENST00000375887.4:c.374C>T	p.Ser125Phe	p.S125F	ENST00000375887	NM_006573.4	125	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS9509.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTCCAGTC	NONE	.	.	hmmpanther:PTHR15151,hmmpanther:PTHR15151:SF2	.	.	ENSP00000365048	.	2/6	.	.	.	.	.	.	.	.	COSM1706998	2/6	PASS	ENST00000375887	Transcript	.	.	ENSG00000102524	11929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.522)	.	tolerated(0.09)	1	TN13B_HUMAN	TNFSF13B	HGNC	.	.	UPI0000001C02	SNV	TNFSF13B,missense_variant,p.Ser125Phe,ENST00000430559,;TNFSF13B,missense_variant,p.Ser125Phe,ENST00000375887,;TNFSF13B,missense_variant,p.Ser125Phe,ENST00000542136,;TNFSF13B,non_coding_transcript_exon_variant,,ENST00000479435,;TNFSF13B,non_coding_transcript_exon_variant,,ENST00000486502,;	552	87	84	SUCCESS
RXFP2	122042	.	GRCh37	13	32371491	32371491	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	84	170	0	ENST00000298386.2:c.1940A>C	p.Asp647Ala	p.D647A	ENST00000298386	NM_130806.3	647	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS9342.1	1940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGATGCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF226,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000298386	.	17/18	.	.	.	.	.	.	.	.	COSM185292	17/18	PASS	ENST00000298386	Transcript	.	.	ENSG00000133105	17318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.84)	.	deleterious(0)	1	RXFP2_HUMAN	RXFP2	HGNC	.	.	UPI0000049589	SNV	RXFP2,missense_variant,p.Asp623Ala,ENST00000380314,;RXFP2,missense_variant,p.Asp647Ala,ENST00000298386,;	2011	170	205	SUCCESS
TPT1	7178	.	GRCh37	13	45915280	45915280	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	24	0	ENST00000530705.1:c.-76C>T		p.*26*	ENST00000530705				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9397.1	.	MUTECT|MUSE	.	CAGCCGGAGCG	NONE	.	.	.	.	.	ENSP00000431872	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000530705	Transcript	.	.	ENSG00000133112	12022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCTP_HUMAN	TPT1	HGNC	Q8TBK7_HUMAN,Q86YH5_HUMAN,J3KPG2_HUMAN	.	UPI0000000FED	SNV	TPT1,5_prime_UTR_variant,,ENST00000527226,;TPT1,5_prime_UTR_variant,,ENST00000379055,;TPT1,5_prime_UTR_variant,,ENST00000530705,;TPT1,5_prime_UTR_variant,,ENST00000379056,;TPT1,upstream_gene_variant,,ENST00000379060,;TPT1,upstream_gene_variant,,ENST00000528619,;TPT1,upstream_gene_variant,,ENST00000530245,;TPT1,upstream_gene_variant,,ENST00000309246,;SNORA31,upstream_gene_variant,,ENST00000362607,;SNORA31,upstream_gene_variant,,ENST00000517242,;RP11-290D2.6,non_coding_transcript_exon_variant,,ENST00000610057,;TPT1-AS1,upstream_gene_variant,,ENST00000520310,;TPT1-AS1,upstream_gene_variant,,ENST00000521507,;TPT1-AS1,upstream_gene_variant,,ENST00000412946,;TPT1-AS1,upstream_gene_variant,,ENST00000517509,;TPT1-AS1,upstream_gene_variant,,ENST00000523445,;TPT1-AS1,upstream_gene_variant,,ENST00000523506,;TPT1-AS1,upstream_gene_variant,,ENST00000520622,;TPT1-AS1,upstream_gene_variant,,ENST00000520590,;TPT1-AS1,upstream_gene_variant,,ENST00000521336,;TPT1,upstream_gene_variant,,ENST00000529421,;TPT1,non_coding_transcript_exon_variant,,ENST00000442760,;TPT1,non_coding_transcript_exon_variant,,ENST00000490277,;TPT1-AS1,upstream_gene_variant,,ENST00000520924,;TPT1-AS1,upstream_gene_variant,,ENST00000524062,;TPT1-AS1,upstream_gene_variant,,ENST00000522859,;TPT1,upstream_gene_variant,,ENST00000533567,;TPT1,upstream_gene_variant,,ENST00000484604,;	226	24	32	SUCCESS
ITM2B	9445	.	GRCh37	13	48832330	48832330	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	192	10	183	0	ENST00000378565.5:c.522T>C	p.Val174=	p.V174=	ENST00000378565	NM_021999.4	174	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS9409.1	522	MUTECT|MUSE	.	ATTGTTATGCC	NONE	.	.	SMART_domains:SM01039,Pfam_domain:PF04089,hmmpanther:PTHR10962,hmmpanther:PTHR10962:SF4,PROSITE_profiles:PS50869	.	.	ENSP00000367828	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000378565	Transcript	.	.	ENSG00000136156	6174	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITM2B_HUMAN	ITM2B	HGNC	Q5W0A3_HUMAN	.	UPI00000009FF	SNV	ITM2B,synonymous_variant,p.%3D,ENST00000378565,;ITM2B,intron_variant,,ENST00000378549,;ITM2B,3_prime_UTR_variant,,ENST00000607866,;ITM2B,upstream_gene_variant,,ENST00000463839,;	725	183	203	SUCCESS
UBAC2	337867	.	GRCh37	13	99853763	99853763	+	intron_variant	Intron	SNP	G	G	A	rs754801857	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	293	145	449	0	ENST00000403766.3:c.31+570G>A		p.*11*	ENST00000403766	NM_001144072.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45064.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGGAGCGC	NONE	.	.	.	.	.	ENSP00000383911	.	.	.	.	.	.	.	.	.	.	rs754801857	.	PASS	ENST00000403766	Transcript	.	.	ENSG00000134882	20486	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBAC2_HUMAN	UBAC2	HGNC	B3KW74_HUMAN	.	UPI000003B0B4	SNV	UBAC2,missense_variant,p.Gly33Glu,ENST00000376440,;UBAC2,intron_variant,,ENST00000355700,;UBAC2,intron_variant,,ENST00000403766,;UBAC2,intron_variant,,ENST00000457666,;UBAC2-AS1,upstream_gene_variant,,ENST00000445737,;UBAC2-AS1,upstream_gene_variant,,ENST00000426037,;RN7SKP9,upstream_gene_variant,,ENST00000364923,;UBAC2,non_coding_transcript_exon_variant,,ENST00000468067,;UBAC2,intron_variant,,ENST00000473091,;	.	449	439	SUCCESS
PACS2	23241	.	GRCh37	14	105818768	105818768	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	62	197	0	ENST00000325438.8:c.261A>C	p.Gln87His	p.Q87H	ENST00000325438		87	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS45178.2	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAAGTGGA	SITE|p.Q87H|c.261A>C|3	.	.	hmmpanther:PTHR13280:SF15,hmmpanther:PTHR13280	.	.	ENSP00000399732	.	3/25	.	.	.	.	.	.	.	.	COSM1260807	3/25	PASS	ENST00000458164	Transcript	.	.	ENSG00000179364	23794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.48)	1	PACS2_HUMAN	PACS2	HGNC	F8W0V0_HUMAN,F8W0B1_HUMAN	.	UPI0000E56F01	SNV	PACS2,missense_variant,p.Gln87His,ENST00000447393,;PACS2,missense_variant,p.Gln87His,ENST00000325438,;PACS2,missense_variant,p.Gln20His,ENST00000430725,;PACS2,missense_variant,p.Gln20His,ENST00000546915,;PACS2,missense_variant,p.Gln87His,ENST00000458164,;PACS2,intron_variant,,ENST00000547217,;PACS2,upstream_gene_variant,,ENST00000552138,;PACS2,downstream_gene_variant,,ENST00000548265,;	436	197	179	SUCCESS
OR4Q3	441669	.	GRCh37	14	20215878	20215878	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	62	0	ENST00000331723.1:c.292T>C	p.Cys98Arg	p.C98R	ENST00000331723	NM_172194.1	98	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS32020.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATGCCTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000330049	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331723	Transcript	.	.	ENSG00000182652	15426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	OR4Q3_HUMAN	OR4Q3	HGNC	.	.	UPI0000061EF0	SNV	OR4Q3,missense_variant,p.Cys98Arg,ENST00000331723,;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	292	62	85	SUCCESS
AP1G2	8906	.	GRCh37	14	24031766	24031766	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	30	99	0	ENST00000308724.5:c.1447del	p.Glu483SerfsTer50	p.E483Sfs*50	ENST00000308724	NM_003917.2	483	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS9602.1	1447	INDELOCATOR*|VARSCANI*|PINDEL	.	CATACTCCCCAA	NONE	.	.	hmmpanther:PTHR22780:SF22,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037094,Superfamily_domains:SSF48371	.	.	ENSP00000312442	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000308724	Transcript	.	.	ENSG00000213983	556	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP1G2_HUMAN	AP1G2	HGNC	Q86U41_HUMAN,Q86U03_HUMAN,G3V532_HUMAN,G3V3Z2_HUMAN,G3V2V9_HUMAN	.	UPI0000124FE8	deletion	AP1G2,frameshift_variant,p.Glu483SerfsTer50,ENST00000308724,;AP1G2,frameshift_variant,p.Glu483SerfsTer50,ENST00000397120,;THTPA,downstream_gene_variant,,ENST00000556545,;THTPA,downstream_gene_variant,,ENST00000404535,;AP1G2,downstream_gene_variant,,ENST00000556843,;AP1G2,upstream_gene_variant,,ENST00000554477,;THTPA,downstream_gene_variant,,ENST00000288014,;AP1G2,downstream_gene_variant,,ENST00000557189,;THTPA,downstream_gene_variant,,ENST00000554970,;THTPA,downstream_gene_variant,,ENST00000556015,;THTPA,downstream_gene_variant,,ENST00000554789,;RP11-66N24.3,intron_variant,,ENST00000555968,;RP11-66N24.4,downstream_gene_variant,,ENST00000553985,;RP11-66N24.4,downstream_gene_variant,,ENST00000555446,;RP11-66N24.4,downstream_gene_variant,,ENST00000556354,;AP1G2,non_coding_transcript_exon_variant,,ENST00000555118,;AP1G2,non_coding_transcript_exon_variant,,ENST00000555510,;AP1G2,downstream_gene_variant,,ENST00000556277,;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554554,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556966,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554982,;AP1G2,non_coding_transcript_exon_variant,,ENST00000465445,;AP1G2,downstream_gene_variant,,ENST00000556943,;AP1G2,downstream_gene_variant,,ENST00000556741,;AP1G2,downstream_gene_variant,,ENST00000554069,;AP1G2,downstream_gene_variant,,ENST00000555789,;AP1G2,downstream_gene_variant,,ENST00000554312,;AP1G2,downstream_gene_variant,,ENST00000553685,;AP1G2,downstream_gene_variant,,ENST00000556743,;AP1G2,downstream_gene_variant,,ENST00000554816,;AP1G2,downstream_gene_variant,,ENST00000557132,;AP1G2,downstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000557391,;AP1G2,downstream_gene_variant,,ENST00000557162,;AP1G2,upstream_gene_variant,,ENST00000554892,;AP1G2,downstream_gene_variant,,ENST00000557619,;AP1G2,downstream_gene_variant,,ENST00000555974,;AP1G2,downstream_gene_variant,,ENST00000554977,;AP1G2,downstream_gene_variant,,ENST00000557482,;AP1G2,downstream_gene_variant,,ENST00000555896,;AP1G2,downstream_gene_variant,,ENST00000556152,;AP1G2,downstream_gene_variant,,ENST00000553629,;	2203	99	136	SUCCESS
MBIP	51562	.	GRCh37	14	36785921	36785921	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	60	201	0	ENST00000416007.4:c.227A>C	p.Glu76Ala	p.E76A	ENST00000416007	NM_016586.2	76	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS9658.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTTCAAGT	NONE	.	.	hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF3	.	.	ENSP00000399718	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000416007	Transcript	.	.	ENSG00000151332	20427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	deleterious(0.01)	.	MBIP1_HUMAN	MBIP	HGNC	.	.	UPI00001FD419	SNV	MBIP,missense_variant,p.Glu76Ala,ENST00000359527,;MBIP,missense_variant,p.Glu76Ala,ENST00000604336,;MBIP,missense_variant,p.Glu34Ala,ENST00000604160,;MBIP,missense_variant,p.Glu76Ala,ENST00000318473,;MBIP,missense_variant,p.Glu73Ala,ENST00000605579,;MBIP,missense_variant,p.Glu76Ala,ENST00000416007,;MBIP,intron_variant,,ENST00000603139,;MBIP,upstream_gene_variant,,ENST00000603913,;	315	201	216	SUCCESS
FSCB	84075	.	GRCh37	14	44974659	44974659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	134	0	ENST00000340446.4:c.1532C>T	p.Pro511Leu	p.P511L	ENST00000340446	NM_032135.3	511	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9679.1	1532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATGGAGAT	NONE	.	.	.	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	deleterious(0.05)	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,missense_variant,p.Pro511Leu,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	1824	134	95	SUCCESS
KIAA0586	9786	.	GRCh37	14	58895077	58895077	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1467531891	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	75	212	0	ENST00000354386.6:c.131A>G	p.His44Arg	p.H44R	ENST00000354386	NM_001244189.1	44	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS58320.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCATTTGG	NONE	.	.	hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2	.	.	ENSP00000346359	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.12)	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	SNV	KIAA0586,missense_variant,p.His32Arg,ENST00000261244,;KIAA0586,missense_variant,p.His17Arg,ENST00000556134,;KIAA0586,missense_variant,p.His44Arg,ENST00000354386,;KIAA0586,intron_variant,,ENST00000555833,;KIAA0586,intron_variant,,ENST00000554463,;KIAA0586,intron_variant,,ENST00000423743,;TIMM9,upstream_gene_variant,,ENST00000555593,;TIMM9,upstream_gene_variant,,ENST00000555404,;TIMM9,upstream_gene_variant,,ENST00000395159,;TIMM9,upstream_gene_variant,,ENST00000555097,;TIMM9,upstream_gene_variant,,ENST00000556007,;RP11-517O13.1,downstream_gene_variant,,ENST00000556734,;KIAA0586,intron_variant,,ENST00000557192,;TIMM9,upstream_gene_variant,,ENST00000557397,;TIMM9,upstream_gene_variant,,ENST00000555930,;TIMM9,upstream_gene_variant,,ENST00000216463,;TIMM9,upstream_gene_variant,,ENST00000556367,;KIAA0586,intron_variant,,ENST00000555203,;	375	212	232	SUCCESS
HSPA2	3306	.	GRCh37	14	65008467	65008467	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	59	0	ENST00000247207.6:c.900C>T	p.Ile300=	p.I300=	ENST00000247207	NM_021979.3	300	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS9766.1	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCACGCG	NONE	.	.	hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF142,Gene3D:3.90.640.10,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000247207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247207	Transcript	.	.	ENSG00000126803	5235	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSP72_HUMAN	HSPA2	HGNC	.	.	UPI000012CC6A	SNV	HSPA2,synonymous_variant,p.%3D,ENST00000247207,;HSPA2,synonymous_variant,p.%3D,ENST00000394709,;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,downstream_gene_variant,,ENST00000554883,;	1282	59	81	SUCCESS
FCF1	51077	.	GRCh37	14	75190045	75190045	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	43	180	0	ENST00000341162.4:c.363A>C		p.X121_splice	ENST00000341162	NM_015962.4	121	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9832.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTAAGGTA	NONE	.	.	hmmpanther:PTHR12416,Pfam_domain:PF04900,Gene3D:3.40.50.1010,SMART_domains:SM00670,Superfamily_domains:SSF88723	.	.	ENSP00000344393	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000341162	Transcript	.	.	ENSG00000119616	20220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCF1_HUMAN	FCF1	HGNC	Q66K47_HUMAN,Q4FZ45_HUMAN,G3V2M5_HUMAN,G3V1S4_HUMAN	.	UPI0000070063	SNV	FCF1,synonymous_variant,p.%3D,ENST00000341162,;FCF1,synonymous_variant,p.%3D,ENST00000553615,;FCF1,synonymous_variant,p.%3D,ENST00000534938,;FCF1,synonymous_variant,p.%3D,ENST00000554590,;FCF1,splice_region_variant,,ENST00000556814,;FCF1,splice_region_variant,,ENST00000554973,;FCF1,splice_region_variant,,ENST00000554064,;FCF1,3_prime_UTR_variant,,ENST00000553673,;	417	180	123	SUCCESS
NOXRED1	122945	.	GRCh37	14	77873885	77873885	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	42	141	0	ENST00000380835.2:c.453T>C	p.Asn151=	p.N151=	ENST00000380835	NM_001113475.2	151	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS45142.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATTAGG	NONE	.	.	hmmpanther:PTHR11645,hmmpanther:PTHR11645:SF7,Pfam_domain:PF03807,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000370215	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000380835	Transcript	.	.	ENSG00000165555	20487	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXRD1_HUMAN	NOXRED1	HGNC	G3V2D4_HUMAN	.	UPI0000407F20	SNV	NOXRED1,synonymous_variant,p.%3D,ENST00000380835,;NOXRED1,synonymous_variant,p.%3D,ENST00000298358,;NOXRED1,synonymous_variant,p.%3D,ENST00000555603,;NOXRED1,non_coding_transcript_exon_variant,,ENST00000555901,;	620	141	122	SUCCESS
SPTLC2	9517	.	GRCh37	14	78021746	78021746	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	42	143	0	ENST00000216484.2:c.1073G>A	p.Gly358Asp	p.G358D	ENST00000216484	NM_004863.3	358	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS9865.1	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACCCCGG	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF00155,Gene3D:3.40.640.10,hmmpanther:PTHR13693:SF52,hmmpanther:PTHR13693	.	.	ENSP00000216484	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000216484	Transcript	.	.	ENSG00000100596	11278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SPTC2_HUMAN	SPTLC2	HGNC	.	.	UPI0000000C6B	SNV	SPTLC2,missense_variant,p.Gly295Asp,ENST00000554901,;SPTLC2,missense_variant,p.Gly358Asp,ENST00000216484,;SPTLC2,upstream_gene_variant,,ENST00000556264,;SPTLC2,non_coding_transcript_exon_variant,,ENST00000554365,;SPTLC2,upstream_gene_variant,,ENST00000556607,;	1267	143	115	SUCCESS
RIN3	79890	.	GRCh37	14	93154522	93154522	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	29	0	ENST00000216487.7:c.2883G>T	p.Arg961=	p.R961=	ENST00000216487	NM_024832.3	961	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS32144.1	2883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCGGCCCCT	NONE	.	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101,PROSITE_profiles:PS50200	.	.	ENSP00000216487	.	10/10	.	.	.	.	.	.	.	.	COSM3499019	10/10	PASS	ENST00000216487	Transcript	.	.	ENSG00000100599	18751	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,synonymous_variant,p.%3D,ENST00000216487,;RIN3,downstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553959,;RIN3,downstream_gene_variant,,ENST00000555589,;	3042	29	37	SUCCESS
RIN3	79890	.	GRCh37	14	93154523	93154523	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs554426241	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	28	0	ENST00000216487.7:c.2884C>T	p.Pro962Ser	p.P962S	ENST00000216487	NM_024832.3	962	Ccc/Tcc	0	.	T:0.0023	.	T:0	.	T	P/S	protein_coding	YES	CCDS32144.1	2884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGCCCCTG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23101:SF58,hmmpanther:PTHR23101,PROSITE_profiles:PS50200	T:0	.	ENSP00000216487	T:0	10/10	.	.	.	.	.	.	.	.	rs554426241	10/10	PASS	ENST00000216487	Transcript	.	T:0.0006	ENSG00000100599	18751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	T:0	deleterious(0.03)	.	RIN3_HUMAN	RIN3	HGNC	Q5CZ74_HUMAN	.	UPI00001C1C97	SNV	RIN3,missense_variant,p.Pro962Ser,ENST00000216487,;RIN3,downstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553959,;RIN3,downstream_gene_variant,,ENST00000555589,;	3043	28	36	SUCCESS
HERC2	8924	.	GRCh37	15	28482110	28482110	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	99	289	0	ENST00000261609.7:c.4002C>T		p.X1334_splice	ENST00000261609	NM_004667.5	1334	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10021.1	4002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTGGCACA	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	26/93	.	.	.	.	.	.	.	.	COSM3500300	26/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,synonymous_variant,p.%3D,ENST00000261609,;	4111	289	284	SUCCESS
TJP1	7082	.	GRCh37	15	30011153	30011153	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	235	97	383	0	ENST00000346128.6:c.3193A>G	p.Ser1065Gly	p.S1065G	ENST00000346128	NM_175610.2	1065	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS42007.1	3193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTTGAGG	BUFFER|p.T1067T|c.3201G>A|3	.	.	hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25,Prints_domain:PR01598	.	.	ENSP00000281537	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.87)	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,missense_variant,p.Ser1065Gly,ENST00000356107,;TJP1,missense_variant,p.Ser989Gly,ENST00000400011,;TJP1,missense_variant,p.Ser1065Gly,ENST00000346128,;TJP1,missense_variant,p.Ser985Gly,ENST00000545208,;TJP1,non_coding_transcript_exon_variant,,ENST00000561307,;	3668	383	332	SUCCESS
B2M	567	.	GRCh37	15	45003695	45003695	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	68	0	ENST00000558401.1:c.-50G>A		p.*17*	ENST00000558401	NM_004048.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGAGGCG	NONE	.	.	.	.	.	ENSP00000452780	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000558401	Transcript	1	.	ENSG00000166710	914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B2MG_HUMAN	B2M	HGNC	Q9UM88_HUMAN,H0YLF3_HUMAN,A6XND9_HUMAN	.	UPI000000D892	SNV	B2M,5_prime_UTR_variant,,ENST00000558401,;B2M,upstream_gene_variant,,ENST00000544417,;B2M,upstream_gene_variant,,ENST00000559916,;B2M,upstream_gene_variant,,ENST00000560556,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000559220,;B2M,upstream_gene_variant,,ENST00000559907,;B2M,5_prime_UTR_variant,,ENST00000559720,;B2M,upstream_gene_variant,,ENST00000560681,;B2M,upstream_gene_variant,,ENST00000349264,;B2M,upstream_gene_variant,,ENST00000561424,;B2M,upstream_gene_variant,,ENST00000557901,;B2M,upstream_gene_variant,,ENST00000561139,;	21	68	55	SUCCESS
HERC1	8925	.	GRCh37	15	63943568	63943568	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	84	0	ENST00000443617.2:c.10430C>T	p.Ala3477Val	p.A3477V	ENST00000443617	NM_003922.3	3477	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45277.1	10430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGCATCC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000390158	.	53/78	.	.	.	.	.	.	.	.	.	53/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Ala3477Val,ENST00000443617,;	10518	84	69	SUCCESS
HERC1	8925	.	GRCh37	15	63967194	63967194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	74	290	0	ENST00000443617.2:c.7193A>T	p.Tyr2398Phe	p.Y2398F	ENST00000443617	NM_003922.3	2398	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS45277.1	7193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGATATGTT	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	38/78	.	.	.	.	.	.	.	.	.	38/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Tyr2398Phe,ENST00000443617,;HERC1,missense_variant,p.Tyr81Phe,ENST00000559715,;RP11-317G6.1,upstream_gene_variant,,ENST00000559303,;	7281	290	239	SUCCESS
PSMA4	5685	.	GRCh37	15	78837279	78837279	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	83	0	ENST00000044462.7:c.356A>T	p.Gln119Leu	p.Q119L	ENST00000044462	NM_002789.4	119	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10303.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAAGCTT	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599:SF13,hmmpanther:PTHR11599,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235	.	.	ENSP00000044462	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000044462	Transcript	.	.	ENSG00000041357	9533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PSA4_HUMAN	PSMA4	HGNC	Q7Z474_HUMAN,H0YMZ1_HUMAN,H0YMA1_HUMAN,H0YL69_HUMAN,H0YKT8_HUMAN	.	UPI000000DC2A	SNV	PSMA4,missense_variant,p.Gln119Leu,ENST00000044462,;PSMA4,missense_variant,p.Gln119Leu,ENST00000560737,;PSMA4,missense_variant,p.Gln95Leu,ENST00000559948,;PSMA4,missense_variant,p.Gln31Leu,ENST00000558094,;PSMA4,missense_variant,p.Gln119Leu,ENST00000559365,;PSMA4,missense_variant,p.Gln93Leu,ENST00000559146,;PSMA4,missense_variant,p.Gln31Leu,ENST00000559154,;PSMA4,missense_variant,p.Gln48Leu,ENST00000413382,;PSMA4,missense_variant,p.Gln119Leu,ENST00000558281,;PSMA4,missense_variant,p.Gln119Leu,ENST00000559082,;PSMA4,missense_variant,p.Gln119Leu,ENST00000559437,;PSMA4,missense_variant,p.Gln88Leu,ENST00000560217,;PSMA4,intron_variant,,ENST00000558341,;PSMA4,non_coding_transcript_exon_variant,,ENST00000557929,;PSMA4,non_coding_transcript_exon_variant,,ENST00000559906,;PSMA4,non_coding_transcript_exon_variant,,ENST00000559934,;PSMA4,non_coding_transcript_exon_variant,,ENST00000560099,;PSMA4,downstream_gene_variant,,ENST00000558635,;PSMA4,downstream_gene_variant,,ENST00000560033,;PSMA4,downstream_gene_variant,,ENST00000558639,;PSMA4,downstream_gene_variant,,ENST00000560842,;	506	83	67	SUCCESS
CIB1	10519	.	GRCh37	15	90773726	90773726	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs771152399	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	48	167	0	ENST00000328649.6:c.566T>G	p.Ile189Ser	p.I189S	ENST00000328649	NM_006384.3	189	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS10360.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAATCTTA	NONE	.	.	hmmpanther:PTHR23056:SF32,hmmpanther:PTHR23056,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000333873	.	7/7	.	.	.	.	.	.	.	.	rs771152399	7/7	PASS	ENST00000328649	Transcript	.	.	ENSG00000185043	16920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	CIB1_HUMAN	CIB1	HGNC	.	.	UPI00001506F1	SNV	CIB1,missense_variant,p.Ile189Ser,ENST00000328649,;GDPGP1,upstream_gene_variant,,ENST00000558291,;SEMA4B,downstream_gene_variant,,ENST00000559247,;SEMA4B,downstream_gene_variant,,ENST00000332496,;GDPGP1,upstream_gene_variant,,ENST00000561433,;SEMA4B,downstream_gene_variant,,ENST00000559983,;SEMA4B,downstream_gene_variant,,ENST00000379122,;GDPGP1,upstream_gene_variant,,ENST00000559204,;SEMA4B,downstream_gene_variant,,ENST00000559074,;SEMA4B,downstream_gene_variant,,ENST00000411539,;GDPGP1,upstream_gene_variant,,ENST00000558017,;SEMA4B,downstream_gene_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000560089,;SEMA4B,downstream_gene_variant,,ENST00000560993,;SEMA4B,downstream_gene_variant,,ENST00000561252,;SEMA4B,downstream_gene_variant,,ENST00000561321,;	728	167	146	SUCCESS
GRIN2A	2903	.	GRCh37	16	10273990	10273990	+	synonymous_variant	Silent	SNP	T	T	C	rs763498978	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	29	154	0	ENST00000330684.3:c.279A>G	p.Ala93=	p.A93=	ENST00000330684	NM_001134407.1	93	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS10539.1	279	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGTGCCCC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Superfamily_domains:SSF53822	.	.	ENSP00000379818	.	3/14	.	.	.	.	.	.	.	.	rs763498978	3/14	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,synonymous_variant,p.%3D,ENST00000396573,;GRIN2A,synonymous_variant,p.%3D,ENST00000404927,;GRIN2A,synonymous_variant,p.%3D,ENST00000330684,;GRIN2A,synonymous_variant,p.%3D,ENST00000396575,;GRIN2A,synonymous_variant,p.%3D,ENST00000562109,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566665,;	589	154	154	SUCCESS
LITAF	9516	.	GRCh37	16	11647418	11647418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	44	0	ENST00000339430.5:c.348G>T	p.Trp116Cys	p.W116C	ENST00000339430	NM_004862.3	116	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS32386.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCCAGGT	NONE	.	.	hmmpanther:PTHR23292,hmmpanther:PTHR23292:SF2,Pfam_domain:PF10601,SMART_domains:SM00714	.	.	ENSP00000459533	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000571688	Transcript	.	.	ENSG00000189067	16841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LITAF_HUMAN	LITAF	HGNC	I3L3U8_HUMAN,I3L329_HUMAN,I3L1R0_HUMAN,I3L1I9_HUMAN,I3L1H3_HUMAN	.	UPI000007094D	SNV	LITAF,missense_variant,p.Trp116Cys,ENST00000339430,;LITAF,missense_variant,p.Trp116Cys,ENST00000570798,;LITAF,missense_variant,p.Trp116Cys,ENST00000381810,;LITAF,missense_variant,p.Trp116Cys,ENST00000574701,;LITAF,missense_variant,p.Trp116Cys,ENST00000570904,;LITAF,missense_variant,p.Trp116Cys,ENST00000576036,;LITAF,missense_variant,p.Trp116Cys,ENST00000413364,;LITAF,missense_variant,p.Trp116Cys,ENST00000574763,;LITAF,missense_variant,p.Trp116Cys,ENST00000571688,;LITAF,missense_variant,p.Trp116Cys,ENST00000571976,;LITAF,missense_variant,p.Trp23Cys,ENST00000572255,;LITAF,missense_variant,p.Trp116Cys,ENST00000571627,;LITAF,intron_variant,,ENST00000571459,;LITAF,downstream_gene_variant,,ENST00000574703,;LITAF,downstream_gene_variant,,ENST00000574848,;LITAF,downstream_gene_variant,,ENST00000571277,;LITAF,downstream_gene_variant,,ENST00000576334,;LITAF,3_prime_UTR_variant,,ENST00000573332,;LITAF,3_prime_UTR_variant,,ENST00000575426,;	579	44	47	SUCCESS
PKD1	5310	.	GRCh37	16	2140513	2140513	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	47	0	ENST00000262304.4:c.12217A>G	p.Thr4073Ala	p.T4073A	ENST00000262304	NM_001009944.2	4073	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS32369.1	12217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTAGAGA	NONE	.	.	hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Pfam_domain:PF08016	.	.	ENSP00000262304	.	45/46	.	.	.	.	.	.	.	.	.	45/46	PASS	ENST00000262304	Transcript	.	.	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Thr4073Ala,ENST00000262304,;PKD1,missense_variant,p.Thr4072Ala,ENST00000423118,;TSC2,downstream_gene_variant,,ENST00000439673,;TSC2,downstream_gene_variant,,ENST00000219476,;TSC2,downstream_gene_variant,,ENST00000568454,;TSC2,downstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000401874,;TSC2,downstream_gene_variant,,ENST00000353929,;TSC2,downstream_gene_variant,,ENST00000350773,;TSC2,downstream_gene_variant,,ENST00000382538,;MIR1225,upstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.3,downstream_gene_variant,,ENST00000565937,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;PKD1,non_coding_transcript_exon_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000568796,;PKD1,downstream_gene_variant,,ENST00000561668,;TSC2,downstream_gene_variant,,ENST00000569930,;PKD1,downstream_gene_variant,,ENST00000567355,;TSC2,downstream_gene_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000562425,;TSC2,downstream_gene_variant,,ENST00000439117,;PKD1,downstream_gene_variant,,ENST00000472659,;PKD1,downstream_gene_variant,,ENST00000564313,;	12426	47	70	SUCCESS
KIAA0556	0	.	GRCh37	16	27788950	27788950	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	109	0	ENST00000261588.4:c.4571T>G	p.Leu1524Arg	p.L1524R	ENST00000261588	NM_015202.2	1524	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS32415.1	4571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTTGTGT	NONE	.	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534,Pfam_domain:PF14652	.	.	ENSP00000261588	.	26/28	.	.	.	.	.	.	.	.	COSM1377094,COSM1377095	26/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.994)	.	deleterious(0)	1,1	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,missense_variant,p.Leu1524Arg,ENST00000261588,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000568622,;	4590	109	85	SUCCESS
N4BP1	9683	.	GRCh37	16	48596057	48596057	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	51	133	0	ENST00000262384.3:c.497C>T	p.Ala166Val	p.A166V	ENST00000262384	NM_153029.3	166	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45479.1	497	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGCTTCA	NONE	.	.	hmmpanther:PTHR12876:SF26,hmmpanther:PTHR12876	.	.	ENSP00000262384	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000262384	Transcript	.	.	ENSG00000102921	29850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	tolerated(0.08)	.	N4BP1_HUMAN	N4BP1	HGNC	I3L3R7_HUMAN	.	UPI000013D2A2	SNV	N4BP1,missense_variant,p.Ala80Val,ENST00000564710,;N4BP1,missense_variant,p.Ala166Val,ENST00000262384,;RP11-44I10.3,intron_variant,,ENST00000563994,;N4BP1,non_coding_transcript_exon_variant,,ENST00000564124,;	734	133	158	SUCCESS
CHD9	80205	.	GRCh37	16	53358774	53358774	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	86	256	0	ENST00000398510.3:c.8661A>C	p.Ser2887=	p.S2887=	ENST00000398510		2887	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS45485.1	8613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCATCTGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000457466	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,synonymous_variant,p.%3D,ENST00000566029,;CHD9,synonymous_variant,p.%3D,ENST00000447540,;CHD9,synonymous_variant,p.%3D,ENST00000564845,;CHD9,synonymous_variant,p.%3D,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,downstream_gene_variant,,ENST00000564641,;CHD9,downstream_gene_variant,,ENST00000564600,;	8822	257	258	SUCCESS
FTO	79068	.	GRCh37	16	53737973	53737973	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	44	1	ENST00000471389.1:c.-124T>G		p.*42*	ENST00000471389	NM_001080432.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32448.1	.	MUTECT|MUSE	.	GTTTTTTCTAC	NONE	.	.	.	.	.	ENSP00000418823	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000471389	Transcript	.	.	ENSG00000140718	24678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FTO_HUMAN	FTO	HGNC	B4DHN4_HUMAN	.	UPI000013D7B3	SNV	FTO,5_prime_UTR_variant,,ENST00000471389,;RPGRIP1L,upstream_gene_variant,,ENST00000562230,;RPGRIP1L,upstream_gene_variant,,ENST00000563746,;RPGRIP1L,upstream_gene_variant,,ENST00000569716,;RPGRIP1L,upstream_gene_variant,,ENST00000379925,;FTO,upstream_gene_variant,,ENST00000394647,;RPGRIP1L,upstream_gene_variant,,ENST00000562588,;RPGRIP1L,upstream_gene_variant,,ENST00000568653,;RPGRIP1L,upstream_gene_variant,,ENST00000262135,;RPGRIP1L,upstream_gene_variant,,ENST00000564374,;RPGRIP1L,upstream_gene_variant,,ENST00000566096,;FTO,upstream_gene_variant,,ENST00000570395,;FTO,upstream_gene_variant,,ENST00000464071,;	99	45	52	SUCCESS
AMFR	267	.	GRCh37	16	56443342	56443342	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	67	0	ENST00000290649.5:c.507T>C	p.Phe169=	p.F169=	ENST00000290649	NM_001144.5	169	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS10758.1	507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCAAATCG	NONE	.	.	hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF70	.	.	ENSP00000290649	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000290649	Transcript	.	.	ENSG00000159461	463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMFR_HUMAN	AMFR	HGNC	Q6PGR1_HUMAN,Q1RN03_HUMAN,H3BSK3_HUMAN,H3BQM3_HUMAN	.	UPI000013EDCA	SNV	AMFR,synonymous_variant,p.%3D,ENST00000565445,;AMFR,synonymous_variant,p.%3D,ENST00000290649,;AMFR,synonymous_variant,p.%3D,ENST00000563664,;RP11-413H22.2,non_coding_transcript_exon_variant,,ENST00000563090,;AMFR,non_coding_transcript_exon_variant,,ENST00000568657,;AMFR,downstream_gene_variant,,ENST00000564283,;	718	67	59	SUCCESS
RAB40C	57799	.	GRCh37	16	677600	677600	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	78	0	ENST00000248139.3:c.824G>C	p.Arg275Pro	p.R275P	ENST00000248139	NM_021168.4	275	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS10413.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCGGAGTA	NONE	.	.	hmmpanther:PTHR24073:SF365,hmmpanther:PTHR24073	.	.	ENSP00000438492	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000535977	Transcript	.	.	ENSG00000197562	18285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	deleterious_low_confidence(0)	.	RB40C_HUMAN	RAB40C	HGNC	Q5PXE8_HUMAN,H3BTC6_HUMAN,H3BNV8_HUMAN,H3BMH4_HUMAN,H3BME4_HUMAN	.	UPI0000133002	SNV	RAB40C,missense_variant,p.Arg275Pro,ENST00000539661,;RAB40C,missense_variant,p.Arg275Pro,ENST00000538492,;RAB40C,missense_variant,p.Arg275Pro,ENST00000535977,;RAB40C,missense_variant,p.Arg275Pro,ENST00000248139,;RAB40C,downstream_gene_variant,,ENST00000566290,;WFIKKN1,upstream_gene_variant,,ENST00000319070,;RAB40C,downstream_gene_variant,,ENST00000568586,;RAB40C,downstream_gene_variant,,ENST00000564703,;RAB40C,downstream_gene_variant,,ENST00000563109,;RAB40C,downstream_gene_variant,,ENST00000569575,;RAB40C,non_coding_transcript_exon_variant,,ENST00000561781,;RAB40C,downstream_gene_variant,,ENST00000565511,;RAB40C,downstream_gene_variant,,ENST00000509637,;WFIKKN1,upstream_gene_variant,,ENST00000573440,;	1046	78	77	SUCCESS
TAF1C	9013	.	GRCh37	16	84216853	84216853	+	synonymous_variant	Silent	SNP	C	C	T	rs187518651	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	59	0	ENST00000567759.1:c.405G>A	p.Ala135=	p.A135=	ENST00000567759	NM_005679.3	135	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS32496.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCGCTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15319,hmmpanther:PTHR15319:SF0	T:0	.	ENSP00000455265	T:0.001	5/14	.	.	.	.	.	.	.	.	rs187518651	5/14	PASS	ENST00000567759	Transcript	.	T:0.0006	ENSG00000103168	11534	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	TAF1C_HUMAN	TAF1C	HGNC	H3BQZ8_HUMAN,H3BNH3_HUMAN	.	UPI0000167B3A	SNV	TAF1C,synonymous_variant,p.%3D,ENST00000564345,;TAF1C,synonymous_variant,p.%3D,ENST00000541676,;TAF1C,synonymous_variant,p.%3D,ENST00000561955,;TAF1C,synonymous_variant,p.%3D,ENST00000341690,;TAF1C,synonymous_variant,p.%3D,ENST00000566732,;TAF1C,synonymous_variant,p.%3D,ENST00000378541,;TAF1C,synonymous_variant,p.%3D,ENST00000567759,;TAF1C,intron_variant,,ENST00000570117,;TAF1C,upstream_gene_variant,,ENST00000568265,;DNAAF1,downstream_gene_variant,,ENST00000564928,;TAF1C,downstream_gene_variant,,ENST00000564454,;TAF1C,downstream_gene_variant,,ENST00000565544,;TAF1C,missense_variant,p.Gly67Arg,ENST00000569505,;TAF1C,synonymous_variant,p.%3D,ENST00000563428,;TAF1C,synonymous_variant,p.%3D,ENST00000566903,;TAF1C,3_prime_UTR_variant,,ENST00000569609,;TAF1C,non_coding_transcript_exon_variant,,ENST00000537450,;TAF1C,non_coding_transcript_exon_variant,,ENST00000562330,;TAF1C,non_coding_transcript_exon_variant,,ENST00000564774,;TAF1C,non_coding_transcript_exon_variant,,ENST00000564208,;TAF1C,non_coding_transcript_exon_variant,,ENST00000565279,;TAF1C,non_coding_transcript_exon_variant,,ENST00000544090,;TAF1C,upstream_gene_variant,,ENST00000570270,;TAF1C,upstream_gene_variant,,ENST00000562445,;TAF1C,downstream_gene_variant,,ENST00000566183,;	588	59	61	SUCCESS
MYOCD	93649	.	GRCh37	17	12642602	12642602	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs763274360	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	53	0	ENST00000343344.4:c.674T>G	p.Leu225Arg	p.L225R	ENST00000343344		225	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS54091.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTTGGCC	NONE	byFrequency	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	7/14	.	.	.	.	.	.	.	.	rs763274360	7/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	tolerated(0.5)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Leu225Arg,ENST00000343344,;MYOCD,missense_variant,p.Leu225Arg,ENST00000425538,;AC005358.1,missense_variant,p.Leu129Arg,ENST00000609971,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	874	53	52	SUCCESS
TVP23C	201158	.	GRCh37	17	15406305	15406305	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs141163711	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	129	0	ENST00000225576.3:c.704A>T	p.Gln235Leu	p.Q235L	ENST00000225576	NM_145301.2	235	cAg/cTg	0	C:0.0002	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11170.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGTTGG	NONE	byCluster	.	.	.	C:0	ENSP00000225576	.	6/6	.	.	.	.	.	.	.	.	rs141163711,COSM559701	6/6	PASS	ENST00000225576	Transcript	.	.	ENSG00000175106	30453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.017)	.	tolerated_low_confidence(0.2)	0,1	TV23C_HUMAN	TVP23C	HGNC	E5RGC5_HUMAN	.	UPI000013C872	SNV	TVP23C,missense_variant,p.Gln235Leu,ENST00000225576,;CDRT4,intron_variant,,ENST00000524205,;TVP23C-CDRT4,intron_variant,,ENST00000522212,;TVP23C,intron_variant,,ENST00000519970,;TVP23C-CDRT4,intron_variant,,ENST00000557349,;TVP23C-CDRT4,intron_variant,,ENST00000518506,;TVP23C-CDRT4,intron_variant,,ENST00000481756,;TVP23C,downstream_gene_variant,,ENST00000581273,;AC005517.3,upstream_gene_variant,,ENST00000452091,;	800	129	107	SUCCESS
TRIM16	10626	.	GRCh37	17	15546090	15546090	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	36	194	0	ENST00000336708.7:c.560T>G	p.Leu187Arg	p.L187R	ENST00000336708	NM_006470.3	187	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	.	560	RADIA|MUSE|VARSCANS	.	ACTTGAGTTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7	.	.	ENSP00000402644	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000455584	Transcript	.	.	ENSG00000251537	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.947)	.	deleterious_low_confidence(0)	.	.	RP11-385D13.1	Clone_based_vega_gene	H0Y626_HUMAN,J3QKY5_HUMAN	.	UPI000268AF94	SNV	RP11-385D13.1,missense_variant,p.Leu187Arg,ENST00000455584,;TRIM16,missense_variant,p.Leu187Arg,ENST00000336708,;TRIM16,missense_variant,p.Leu57Arg,ENST00000416464,;TRIM16,missense_variant,p.Leu187Arg,ENST00000578237,;TRIM16,missense_variant,p.Leu57Arg,ENST00000581200,;TRIM16,missense_variant,p.Leu61Arg,ENST00000578744,;TRIM16,5_prime_UTR_variant,,ENST00000579219,;TRIM16,5_prime_UTR_variant,,ENST00000580110,;TRIM16,5_prime_UTR_variant,,ENST00000577372,;TRIM16,5_prime_UTR_variant,,ENST00000577886,;TRIM16,non_coding_transcript_exon_variant,,ENST00000581224,;TRIM16,non_coding_transcript_exon_variant,,ENST00000473540,;TRIM16,non_coding_transcript_exon_variant,,ENST00000460728,;TRIM16,non_coding_transcript_exon_variant,,ENST00000579272,;	604	194	175	SUCCESS
KSR1	8844	.	GRCh37	17	25928943	25928943	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	36	121	0	ENST00000398988.3:c.1124A>C	p.Lys375Thr	p.K375T	ENST00000398988	NM_014238.1	375	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS58532.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAATGCC	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413	.	.	ENSP00000381958	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000398988	Transcript	.	.	ENSG00000141068	6465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.44)	.	.	KSR1	HGNC	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN	.	UPI00005B2F0C	SNV	KSR1,missense_variant,p.Lys375Thr,ENST00000398988,;KSR1,missense_variant,p.Lys375Thr,ENST00000268763,;KSR1,missense_variant,p.Lys512Thr,ENST00000319524,;KSR1,intron_variant,,ENST00000398982,;KSR1,intron_variant,,ENST00000509603,;KSR1,intron_variant,,ENST00000579961,;KSR1,intron_variant,,ENST00000581975,;KSR1,intron_variant,,ENST00000583525,;	1569	121	130	SUCCESS
NF1	4763	.	GRCh37	17	29496954	29496954	+	synonymous_variant	Silent	SNP	T	T	C	rs750358089	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	56	0	ENST00000358273.4:c.525T>C	p.His175=	p.H175=	ENST00000358273	NM_001042492.2	175	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS42292.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATGATAT	NONE	.	.	hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	5/58	.	.	.	.	.	.	.	.	rs750358089	5/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,synonymous_variant,p.%3D,ENST00000431387,;NF1,synonymous_variant,p.%3D,ENST00000358273,;NF1,synonymous_variant,p.%3D,ENST00000489712,;NF1,synonymous_variant,p.%3D,ENST00000356175,;NF1,synonymous_variant,p.%3D,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;NF1,intron_variant,,ENST00000495910,;NF1,intron_variant,,ENST00000490416,;	908	56	73	SUCCESS
ACACA	31	.	GRCh37	17	35631111	35631111	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	45	154	0	ENST00000353139.5:c.981T>C	p.Tyr327=	p.Y327=	ENST00000353139	NM_198834.1	327	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS42302.1	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACATAACC	NONE	.	.	PROSITE_profiles:PS50979,PROSITE_profiles:PS50975,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF02786,Superfamily_domains:SSF56059	.	.	ENSP00000344789	.	9/56	.	.	.	.	.	.	.	.	.	9/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,synonymous_variant,p.%3D,ENST00000360679,;ACACA,synonymous_variant,p.%3D,ENST00000353139,;ACACA,synonymous_variant,p.%3D,ENST00000394406,;ACACA,synonymous_variant,p.%3D,ENST00000335166,;ACACA,downstream_gene_variant,,ENST00000591148,;ACACA,3_prime_UTR_variant,,ENST00000456066,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	1463	154	146	SUCCESS
LASP1	3927	.	GRCh37	17	37026422	37026422	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	44	0	ENST00000318008.6:c.-21G>A		p.*7*	ENST00000318008	NM_006148.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11331.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCGCCCCA	NONE	.	.	.	.	.	ENSP00000325240	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000318008	Transcript	.	.	ENSG00000002834	6513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LASP1_HUMAN	LASP1	HGNC	C9J9W2_HUMAN	.	UPI0000046841	SNV	LASP1,5_prime_UTR_variant,,ENST00000433206,;LASP1,5_prime_UTR_variant,,ENST00000435347,;LASP1,5_prime_UTR_variant,,ENST00000318008,;LASP1,upstream_gene_variant,,ENST00000419929,;LASP1,5_prime_UTR_variant,,ENST00000443937,;LASP1,5_prime_UTR_variant,,ENST00000585841,;LASP1,non_coding_transcript_exon_variant,,ENST00000584106,;	311	44	51	SUCCESS
LASP1	3927	.	GRCh37	17	37026423	37026423	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	46	0	ENST00000318008.6:c.-20C>A		p.*7*	ENST00000318008	NM_006148.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11331.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGCCCCAG	NONE	.	.	.	.	.	ENSP00000325240	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000318008	Transcript	.	.	ENSG00000002834	6513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LASP1_HUMAN	LASP1	HGNC	C9J9W2_HUMAN	.	UPI0000046841	SNV	LASP1,5_prime_UTR_variant,,ENST00000433206,;LASP1,5_prime_UTR_variant,,ENST00000435347,;LASP1,5_prime_UTR_variant,,ENST00000318008,;LASP1,upstream_gene_variant,,ENST00000419929,;LASP1,5_prime_UTR_variant,,ENST00000443937,;LASP1,5_prime_UTR_variant,,ENST00000585841,;LASP1,non_coding_transcript_exon_variant,,ENST00000584106,;	312	46	51	SUCCESS
KRT40	125115	.	GRCh37	17	39140461	39140461	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	95	0	ENST00000377755.4:c.65C>T	p.Ala22Val	p.A22V	ENST00000377755		22	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS42320.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGCACAA	NONE	.	.	hmmpanther:PTHR23239:SF90,hmmpanther:PTHR23239	.	.	ENSP00000366984	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000377755	Transcript	.	.	ENSG00000204889	26707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	K1C40_HUMAN	KRT40	HGNC	.	.	UPI00003B288A	SNV	KRT40,missense_variant,p.Ala22Val,ENST00000377755,;KRT40,missense_variant,p.Ala22Val,ENST00000398486,;KRT40,missense_variant,p.Ala22Val,ENST00000461923,;	100	95	126	SUCCESS
ZNF652	22834	.	GRCh37	17	47390068	47390068	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	29	77	0	ENST00000362063.2:c.1040A>G	p.His347Arg	p.H347R	ENST00000362063	NM_014897.2	347	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS32677.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTGTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24382:SF21,hmmpanther:PTHR24382,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000354686	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000362063	Transcript	.	.	ENSG00000198740	29147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN652_HUMAN	ZNF652	HGNC	.	.	UPI000006D93D	SNV	ZNF652,missense_variant,p.His347Arg,ENST00000362063,;ZNF652,missense_variant,p.His347Arg,ENST00000430262,;ZNF652,missense_variant,p.His167Arg,ENST00000508237,;	1359	77	111	SUCCESS
SLC35B1	10237	.	GRCh37	17	47781491	47781491	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	241	110	251	0	ENST00000240333.6:c.626A>C	p.Asn209Thr	p.N209T	ENST00000240333	NM_005827.2	209	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	.	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTTGATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10778:SF10,hmmpanther:PTHR10778,Pfam_domain:PF08449	.	.	ENSP00000240333	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000240333	Transcript	.	.	ENSG00000121073	20798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S35B1_HUMAN	SLC35B1	HGNC	.	.	UPI0000073E10	SNV	SLC35B1,missense_variant,p.Asn178Thr,ENST00000514907,;SLC35B1,missense_variant,p.Asn246Thr,ENST00000415270,;SLC35B1,missense_variant,p.Asn243Thr,ENST00000515850,;SLC35B1,missense_variant,p.Asn212Thr,ENST00000508520,;SLC35B1,missense_variant,p.Asn142Thr,ENST00000503334,;SLC35B1,missense_variant,p.Asn209Thr,ENST00000240333,;SLC35B1,downstream_gene_variant,,ENST00000511763,;SLC35B1,downstream_gene_variant,,ENST00000511657,;RP11-613C6.2,upstream_gene_variant,,ENST00000512720,;SLC35B1,3_prime_UTR_variant,,ENST00000502268,;SLC35B1,3_prime_UTR_variant,,ENST00000507773,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000435059,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000504260,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000513508,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000502406,;SLC35B1,downstream_gene_variant,,ENST00000509781,;SLC35B1,downstream_gene_variant,,ENST00000508926,;SLC35B1,upstream_gene_variant,,ENST00000507477,;SLC35B1,upstream_gene_variant,,ENST00000508749,;SLC35B1,downstream_gene_variant,,ENST00000508607,;SLC35B1,downstream_gene_variant,,ENST00000505765,;	748	251	352	SUCCESS
PDK2	5164	.	GRCh37	17	48174927	48174927	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	37	0	ENST00000503176.1:c.259T>C	p.Trp87Arg	p.W87R	ENST00000503176	NM_002611.4	87	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS11559.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCTGGTGA	NONE	.	.	hmmpanther:PTHR11947:SF15,hmmpanther:PTHR11947,Pfam_domain:PF10436,Gene3D:1.20.140.20,Superfamily_domains:SSF69012	.	.	ENSP00000420927	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000503176	Transcript	.	.	ENSG00000005882	8810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	deleterious(0.01)	.	PDK2_HUMAN	PDK2	HGNC	D6RJH7_HUMAN,D6RHG2_HUMAN,D6RGV8_HUMAN,D6RDN9_HUMAN,D6R983_HUMAN	.	UPI000000D98D	SNV	PDK2,missense_variant,p.Trp23Arg,ENST00000508030,;PDK2,missense_variant,p.Trp87Arg,ENST00000503176,;PDK2,missense_variant,p.Trp23Arg,ENST00000512238,;PDK2,missense_variant,p.Trp23Arg,ENST00000007708,;PDK2,missense_variant,p.Trp23Arg,ENST00000505440,;PDK2,missense_variant,p.Trp23Arg,ENST00000503614,;RP5-875H18.4,downstream_gene_variant,,ENST00000511361,;PDK2,downstream_gene_variant,,ENST00000511026,;PDK2,splice_region_variant,,ENST00000505897,;PDK2,splice_region_variant,,ENST00000515040,;PDK2,non_coding_transcript_exon_variant,,ENST00000508960,;	420	37	55	SUCCESS
ZNF594	84622	.	GRCh37	17	5085970	5085970	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs181984106	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	53	145	0	ENST00000399604.4:c.1582C>A	p.Arg528Ser	p.R528S	ENST00000399604		528	Cgc/Agc	0	A:0.0002	A:0	.	A:0	.	T	R/S	protein_coding	YES	CCDS42241.1	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGCCAAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF127,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0.002	A:0.0001	ENSP00000382513	A:0	1/1	.	.	.	.	.	.	.	.	rs181984106	1/1	PASS	ENST00000399604	Transcript	.	A:0.0024	ENSG00000180626	29392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	A:0.0102	tolerated(1)	.	ZN594_HUMAN	ZNF594	HGNC	I3L508_HUMAN	.	UPI00001C1FDF	SNV	ZNF594,missense_variant,p.Arg528Ser,ENST00000575779,;ZNF594,missense_variant,p.Arg528Ser,ENST00000399604,;ZNF594,downstream_gene_variant,,ENST00000576772,;	1723	145	146	SUCCESS
VPS53	55275	.	GRCh37	17	531471	531479	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCTAGTAAA	TCTAGTAAA	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	TCTAGTAAA	TCTAGTAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	96	0	ENST00000571805.1:c.688-8_688del		p.X230_splice	ENST00000571805		230		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45558.1	?-688	INDELOCATOR*|PINDEL	.	CTGGTCTCTAGTAAAACAAA	NONE	.	.	.	.	.	ENSP00000401435	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000437048	Transcript	.	.	ENSG00000141252	25608	.	.	HIGH	8/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VPS53_HUMAN	VPS53	HGNC	Q8NCR1_HUMAN,I3L4P9_HUMAN	.	UPI0000DBEF01	deletion	VPS53,splice_acceptor_variant,,ENST00000446250,;VPS53,splice_acceptor_variant,,ENST00000571805,;VPS53,splice_acceptor_variant,,ENST00000437048,;VPS53,splice_acceptor_variant,,ENST00000291074,;VPS53,coding_sequence_variant,,ENST00000570650,;VPS53,intron_variant,,ENST00000574029,;VPS53,intron_variant,,ENST00000401468,;VPS53,splice_acceptor_variant,,ENST00000576149,;VPS53,downstream_gene_variant,,ENST00000572334,;VPS53,splice_acceptor_variant,,ENST00000573028,;VPS53,intron_variant,,ENST00000389040,;	?-835	96	64	SUCCESS
MTMR4	9110	.	GRCh37	17	56584192	56584192	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	16	68	0	ENST00000323456.5:c.903A>C	p.Ala301=	p.A301=	ENST00000323456	NM_004687.4	301	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS11608.1	903	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTGCTGT	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602	.	.	ENSP00000325285	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,synonymous_variant,p.%3D,ENST00000323456,;MTMR4,synonymous_variant,p.%3D,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583243,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000579921,;MTMR4,downstream_gene_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000582390,;MTMR4,downstream_gene_variant,,ENST00000583966,;MTMR4,downstream_gene_variant,,ENST00000580983,;	1028	68	102	SUCCESS
AXIN2	8313	.	GRCh37	17	63534326	63534326	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1157452251	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	50	159	0	ENST00000307078.5:c.1195C>T	p.Arg399Ter	p.R399*	ENST00000307078	NM_004655.3	399	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11662.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGGATCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	.	ENSP00000302625	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,stop_gained,p.Arg399Ter,ENST00000375702,;AXIN2,stop_gained,p.Arg399Ter,ENST00000307078,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;AXIN2,upstream_gene_variant,,ENST00000578251,;	1509	159	186	SUCCESS
CD300LB	124599	.	GRCh37	17	72518964	72518964	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	76	211	0	ENST00000392621.1:c.630G>C	p.Lys210Asn	p.K210N	ENST00000392621	NM_174892.3	210	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	.	630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCTTCAA	NONE	.	.	hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF41	.	.	ENSP00000376397	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392621	Transcript	.	.	ENSG00000178789	30811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.56)	.	CLM7_HUMAN	CD300LB	HGNC	B4DQ71_HUMAN	.	UPI000013F7FE	SNV	CD300LB,missense_variant,p.Lys210Asn,ENST00000392621,;CD300LB,downstream_gene_variant,,ENST00000314401,;	635	211	278	SUCCESS
DNAH2	146754	.	GRCh37	17	7721651	7721651	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1469376078	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	64	168	0	ENST00000389173.2:c.10409T>C	p.Ile3470Thr	p.I3470T	ENST00000389173	NM_020877.2	3470	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS32551.1	10409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCATTGGCG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12781	.	.	ENSP00000458355	.	69/86	.	.	.	.	.	.	.	.	.	69/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.35)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Ile3470Thr,ENST00000389173,;DNAH2,missense_variant,p.Ile3470Thr,ENST00000572933,;DNAH2,missense_variant,p.Ile419Thr,ENST00000575105,;	11869	168	213	SUCCESS
CCDC137	339230	.	GRCh37	17	79639185	79639185	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs373550389	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	71	116	0	ENST00000329214.8:c.660G>A		p.X220_splice	ENST00000329214	NM_199287.2	220	caG/caA	0	A:0	.	.	.	.	A	Q	protein_coding	YES	CCDS42400.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGTAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21838	.	A:0.0001	ENSP00000329360	.	5/6	.	.	.	.	.	.	.	.	rs373550389	5/6	PASS	ENST00000329214	Transcript	.	.	ENSG00000185298	33451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC137_HUMAN	CCDC137	HGNC	H6QX63_HUMAN	.	UPI00001983C7	SNV	CCDC137,synonymous_variant,p.%3D,ENST00000329214,;CCDC137,synonymous_variant,p.%3D,ENST00000574107,;AC139530.1,upstream_gene_variant,,ENST00000584812,;CCDC137,synonymous_variant,p.%3D,ENST00000575223,;CCDC137,splice_region_variant,,ENST00000571916,;CCDC137,downstream_gene_variant,,ENST00000572531,;CCDC137,downstream_gene_variant,,ENST00000574200,;	1063	116	130	SUCCESS
FASN	2194	.	GRCh37	17	80037282	80037282	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776351410	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	46	142	0	ENST00000306749.2:c.7349C>T	p.Thr2450Met	p.T2450M	ENST00000306749	NM_004104.4	2450	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS11801.1	7349	RADIA|MUTECT|MUSE	.	CACCCGTCTTG	NONE	byFrequency	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.50.1820,Pfam_domain:PF00975,Superfamily_domains:SSF53474	.	.	ENSP00000304592	.	42/43	.	.	.	.	.	.	.	.	rs776351410	42/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.104)	.	tolerated(0.13)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Thr2450Met,ENST00000306749,;FASN,non_coding_transcript_exon_variant,,ENST00000579758,;FASN,3_prime_UTR_variant,,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000578424,;	7568	142	172	SUCCESS
FASN	2194	.	GRCh37	17	80039907	80039907	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	35	0	ENST00000306749.2:c.6141A>C	p.Lys2047Asn	p.K2047N	ENST00000306749	NM_004104.4	2047	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS11801.1	6141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGTTTCTC	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF08659,Gene3D:3.40.50.720,SMART_domains:SM00822,Superfamily_domains:SSF51735	.	.	ENSP00000304592	.	36/43	.	.	.	.	.	.	.	.	.	36/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	deleterious(0.04)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Lys2047Asn,ENST00000306749,;FASN,non_coding_transcript_exon_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	6360	35	67	SUCCESS
LAMA3	3909	.	GRCh37	18	21418835	21418835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	68	293	0	ENST00000313654.9:c.3184A>G	p.Asn1062Asp	p.N1062D	ENST00000313654	NM_198129.1	1062	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS42419.1	3184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCAATCAA	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	26/75	.	.	.	.	.	.	.	.	.	26/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Asn1062Asp,ENST00000313654,;LAMA3,missense_variant,p.Asn1062Asp,ENST00000399516,;LAMA3,downstream_gene_variant,,ENST00000592519,;LAMA3,downstream_gene_variant,,ENST00000591749,;	3425	293	236	SUCCESS
ZNF397	84307	.	GRCh37	18	32826113	32826113	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	60	163	0	ENST00000330501.7:c.1444C>T	p.Gln482Ter	p.Q482*	ENST00000330501	NM_001135178.2	482	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS45852.1	1444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATCAGTGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF21,hmmpanther:PTHR23226,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000331577	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330501	Transcript	.	.	ENSG00000186812	18818	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN397_HUMAN	ZNF397	HGNC	M0R288_HUMAN	.	UPI000000D7E4	SNV	ZNF397,stop_gained,p.Gln482Ter,ENST00000330501,;ZNF397,intron_variant,,ENST00000261333,;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000592264,;ZNF397,downstream_gene_variant,,ENST00000588119,;ZNF397,downstream_gene_variant,,ENST00000585800,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZSCAN30,downstream_gene_variant,,ENST00000420878,;ZNF397,downstream_gene_variant,,ENST00000591206,;ZSCAN30,downstream_gene_variant,,ENST00000333206,;ZNF397,intron_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;	1597	163	156	SUCCESS
GALNT1	2589	.	GRCh37	18	33267146	33267146	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	123	0	ENST00000269195.5:c.856G>C	p.Val286Leu	p.V286L	ENST00000269195	NM_020474.3	286	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS11915.1	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGTCAGG	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF19,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000269195	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000269195	Transcript	.	.	ENSG00000141429	4123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.62)	.	GALT1_HUMAN	GALNT1	HGNC	K7EJV8_HUMAN,F5GY99_HUMAN	.	UPI00001311FC	SNV	GALNT1,missense_variant,p.Val286Leu,ENST00000269195,;GALNT1,missense_variant,p.Val226Leu,ENST00000537549,;GALNT1,missense_variant,p.Val286Leu,ENST00000589189,;GALNT1,3_prime_UTR_variant,,ENST00000590654,;	959	123	80	SUCCESS
ENOSF1	55556	.	GRCh37	18	683313	683313	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs749399622	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	81	207	0	ENST00000251101.7:c.809T>G	p.Phe270Cys	p.F270C	ENST00000251101	NM_017512.5	270	tTc/tGc	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS11823.1	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGAACTTG	NONE	.	.	hmmpanther:PTHR13794,hmmpanther:PTHR13794:SF2,PROSITE_patterns:PS00909,Gene3D:3.20.20.120,Pfam_domain:PF01188,SMART_domains:SM00922,Superfamily_domains:SSF51604	.	.	ENSP00000345974	.	11/15	.	.	.	.	.	.	.	.	rs749399622	11/15	PASS	ENST00000340116	Transcript	.	.	ENSG00000132199	30365	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious(0)	.	ENOF1_HUMAN	ENOSF1	HGNC	Q6ZS08_HUMAN	.	UPI0000252153	SNV	ENOSF1,missense_variant,p.Phe270Cys,ENST00000251101,;ENOSF1,missense_variant,p.Phe188Cys,ENST00000383578,;ENOSF1,missense_variant,p.Phe194Cys,ENST00000580982,;ENOSF1,missense_variant,p.Phe40Cys,ENST00000319815,;ENOSF1,missense_variant,p.Phe291Cys,ENST00000340116,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000583973,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000581928,;ENOSF1,3_prime_UTR_variant,,ENST00000581475,;ENOSF1,3_prime_UTR_variant,,ENST00000585128,;ENOSF1,3_prime_UTR_variant,,ENST00000584453,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000578651,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000582745,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584259,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584706,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000578647,;ENOSF1,downstream_gene_variant,,ENST00000585004,;ENOSF1,downstream_gene_variant,,ENST00000577334,;	910	207	229	SUCCESS
PDE4A	5141	.	GRCh37	19	10531543	10531543	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	21	0	ENST00000380702.2:c.254+3002C>A		p.*85*	ENST00000380702		35		0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45961.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TGTGGCGGCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000270474	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000352831	Transcript	.	.	ENSG00000065989	8780	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDE4A_HUMAN	PDE4A	HGNC	Q86V67_HUMAN	.	UPI0000047003	SNV	PDE4A,synonymous_variant,p.%3D,ENST00000352831,;PDE4A,intron_variant,,ENST00000380702,;PDE4A,intron_variant,,ENST00000592685,;CDC37,upstream_gene_variant,,ENST00000593124,;	213	21	17	SUCCESS
KEAP1	9817	.	GRCh37	19	10602811	10602812	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CGTA	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	70	0	ENST00000171111.5:c.763_766dup	p.Asp256ValfsTer95	p.D256Vfs*95	ENST00000171111	NM_203500.1	256	gac/gTACGac	0	.	.	.	.	.	CGTA	D/VRX	protein_coding	YES	CCDS12239.1	766-767	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCAGTCGTAC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	insertion	KEAP1,frameshift_variant,p.Asp256ValfsTer95,ENST00000393623,;KEAP1,frameshift_variant,p.Asp256ValfsTer?,ENST00000592055,;KEAP1,frameshift_variant,p.Asp256ValfsTer95,ENST00000171111,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;KEAP1,upstream_gene_variant,,ENST00000590593,;	1314-1315	70	84	SUCCESS
KEAP1	9817	.	GRCh37	19	10610398	10610398	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	137	0	ENST00000171111.5:c.312C>A	p.Ser104Arg	p.S104R	ENST00000171111	NM_203500.1	104	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS12239.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGCTGGA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Ser104Arg,ENST00000591419,;KEAP1,missense_variant,p.Ser104Arg,ENST00000591039,;KEAP1,missense_variant,p.Ser104Arg,ENST00000393623,;KEAP1,missense_variant,p.Ser104Arg,ENST00000171111,;KEAP1,missense_variant,p.Ser104Arg,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	860	137	144	SUCCESS
C19orf24	0	.	GRCh37	19	1275790	1275792	+	inframe_deletion	In_Frame_Del	DEL	GCG	GCG	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	GCG	GCG	.	.	.	.	.	.	.	.	.	.	.	.	.	13	47	27	0	ENST00000409293.4:c.244_246del	p.Gly82del	p.G82del	ENST00000409293	NM_017914.3	81	tGCGgc/tgc	0	.	.	.	.	.	-	CG/C	protein_coding	YES	CCDS12060.2	242-244	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTCTGCGGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF06679	.	.	ENSP00000386557	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000409293	Transcript	.	.	ENSG00000228300	26073	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CS024_HUMAN	C19orf24	HGNC	.	.	UPI0000578A40	deletion	C19orf24,inframe_deletion,p.Gly82del,ENST00000409293,;CIRBP,downstream_gene_variant,,ENST00000589660,;CIRBP,downstream_gene_variant,,ENST00000586773,;CIRBP,downstream_gene_variant,,ENST00000591935,;CIRBP,downstream_gene_variant,,ENST00000586548,;CIRBP,downstream_gene_variant,,ENST00000588344,;CIRBP,downstream_gene_variant,,ENST00000588230,;CIRBP,downstream_gene_variant,,ENST00000589710,;CIRBP,downstream_gene_variant,,ENST00000592815,;CIRBP,downstream_gene_variant,,ENST00000444172,;CIRBP,downstream_gene_variant,,ENST00000320936,;C19orf24,upstream_gene_variant,,ENST00000469144,;CIRBP,downstream_gene_variant,,ENST00000589235,;CIRBP,downstream_gene_variant,,ENST00000587323,;CIRBP,downstream_gene_variant,,ENST00000587896,;CIRBP,downstream_gene_variant,,ENST00000589686,;CIRBP,downstream_gene_variant,,ENST00000585630,;CIRBP,downstream_gene_variant,,ENST00000591659,;CIRBP,downstream_gene_variant,,ENST00000413636,;CIRBP,downstream_gene_variant,,ENST00000588090,;CIRBP,downstream_gene_variant,,ENST00000592051,;CIRBP,downstream_gene_variant,,ENST00000588411,;CIRBP,downstream_gene_variant,,ENST00000589266,;CIRBP,downstream_gene_variant,,ENST00000586472,;CIRBP,downstream_gene_variant,,ENST00000588030,;CIRBP,downstream_gene_variant,,ENST00000590188,;C19orf24,upstream_gene_variant,,ENST00000590269,;C19orf24,upstream_gene_variant,,ENST00000585716,;CIRBP,downstream_gene_variant,,ENST00000587812,;CIRBP,downstream_gene_variant,,ENST00000593048,;CIRBP,downstream_gene_variant,,ENST00000593283,;CIRBP,downstream_gene_variant,,ENST00000593093,;C19orf24,upstream_gene_variant,,ENST00000485191,;CIRBP,downstream_gene_variant,,ENST00000593128,;CIRBP,downstream_gene_variant,,ENST00000591055,;CIRBP,downstream_gene_variant,,ENST00000590171,;CIRBP,downstream_gene_variant,,ENST00000590347,;CIRBP,downstream_gene_variant,,ENST00000585914,;CIRBP,downstream_gene_variant,,ENST00000591376,;CIRBP,downstream_gene_variant,,ENST00000586636,;CIRBP,downstream_gene_variant,,ENST00000592234,;CIRBP,downstream_gene_variant,,ENST00000588917,;CIRBP,downstream_gene_variant,,ENST00000586555,;CIRBP,downstream_gene_variant,,ENST00000585913,;CIRBP,downstream_gene_variant,,ENST00000587169,;CIRBP,downstream_gene_variant,,ENST00000591097,;CIRBP,downstream_gene_variant,,ENST00000590704,;CIRBP,downstream_gene_variant,,ENST00000592412,;	765-767	27	60	SUCCESS
LPHN1	0	.	GRCh37	19	14261860	14261860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	39	0	ENST00000340736.6:c.4250C>A	p.Pro1417His	p.P1417H	ENST00000340736	NM_001008701.2	1417	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS32928.1	4250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGGGGGGT	NONE	.	.	Pfam_domain:PF02354,Low_complexity_(Seg):seg	.	.	ENSP00000340688	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000340736	Transcript	.	.	ENSG00000072071	20973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated_low_confidence(0.07)	.	LPHN1_HUMAN	LPHN1	HGNC	.	.	UPI000005046A	SNV	LPHN1,missense_variant,p.Pro1412His,ENST00000361434,;LPHN1,missense_variant,p.Pro1417His,ENST00000340736,;LPHN1,downstream_gene_variant,,ENST00000592164,;LPHN1,downstream_gene_variant,,ENST00000593005,;CTB-55O6.12,intron_variant,,ENST00000588658,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,upstream_gene_variant,,ENST00000592086,;	4548	39	77	SUCCESS
CCDC105	126402	.	GRCh37	19	15121855	15121855	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	44	0	ENST00000292574.3:c.218T>A	p.Phe73Tyr	p.F73Y	ENST00000292574	NM_173482.2	73	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS12322.1	218	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTTCCGCG	NONE	.	.	.	.	.	ENSP00000292574	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000292574	Transcript	.	.	ENSG00000160994	26866	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	CC105_HUMAN	CCDC105	HGNC	.	.	UPI0000073091	SNV	CCDC105,missense_variant,p.Phe73Tyr,ENST00000292574,;SLC1A6,intron_variant,,ENST00000595863,;SLC1A6,upstream_gene_variant,,ENST00000430939,;SLC1A6,upstream_gene_variant,,ENST00000599636,;	300	44	45	SUCCESS
SCAMP4	113178	.	GRCh37	19	1924232	1924242	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCGAGTACC	GCCCGAGTACC	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	GCCCGAGTACC	GCCCGAGTACC	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	68	0	ENST00000316097.8:c.639_649del	p.Pro214HisfsTer148	p.P214Hfs*148	ENST00000316097	NM_079834.2	213	ctGCCCGAGTACCcc/ctcc	0	.	.	.	.	.	-	LPEYP/LX	protein_coding	YES	CCDS45903.1	639-649	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCCTGCCCGAGTACCCCACT	NONE	.	.	hmmpanther:PTHR10687:SF11,hmmpanther:PTHR10687	.	.	ENSP00000316007	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316097	Transcript	.	.	ENSG00000227500	30385	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCAM4_HUMAN	SCAMP4	HGNC	K7EJJ4_HUMAN,C9JWM2_HUMAN	.	UPI000006F786	deletion	SCAMP4,frameshift_variant,p.Pro214HisfsTer148,ENST00000316097,;SCAMP4,frameshift_variant,p.Pro180HisfsTer148,ENST00000409472,;SCAMP4,downstream_gene_variant,,ENST00000585335,;SCAMP4,downstream_gene_variant,,ENST00000489554,;SCAMP4,downstream_gene_variant,,ENST00000414057,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000472442,;AC012615.1,upstream_gene_variant,,ENST00000367461,;	906-916	68	36	SUCCESS
CSNK1G2-AS1	255193	.	GRCh37	19	1953388	1953388	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs758808386	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	50	163	0	ENST00000586395.1:n.862G>C		p.*288*	ENST00000586395				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12077.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCCCCGG	NONE	.	.	.	.	.	ENSP00000255641	.	.	.	.	.	.	.	.	.	.	rs758808386	.	PASS	ENST00000255641	Transcript	.	.	ENSG00000133275	2455	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1G2_HUMAN	CSNK1G2	HGNC	.	.	UPI00000015E2	SNV	CSNK1G2,intron_variant,,ENST00000255641,;CSNK1G2,intron_variant,,ENST00000591752,;CSNK1G2,upstream_gene_variant,,ENST00000589350,;CSNK1G2-AS1,non_coding_transcript_exon_variant,,ENST00000586395,;CSNK1G2-AS1,non_coding_transcript_exon_variant,,ENST00000314315,;CSNK1G2,downstream_gene_variant,,ENST00000587123,;	.	163	152	SUCCESS
ZNF675	171392	.	GRCh37	19	23837293	23837293	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs762244427	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	88	0	ENST00000359788.4:c.442A>C	p.Lys148Gln	p.K148Q	ENST00000359788	NM_138330.2	148	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS32981.1	442	MUTECT|MUSE	.	ATATTTATCAC	NONE	byFrequency	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF115,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000352836	.	4/4	.	.	.	.	.	.	.	.	rs762244427	4/4	PASS	ENST00000359788	Transcript	.	.	ENSG00000197372	30768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.055)	.	deleterious(0.04)	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,missense_variant,p.Lys148Gln,ENST00000359788,;ZNF675,missense_variant,p.Lys79Gln,ENST00000599535,;ZNF675,intron_variant,,ENST00000601935,;ZNF675,intron_variant,,ENST00000596211,;ZNF675,intron_variant,,ENST00000600313,;ZNF675,downstream_gene_variant,,ENST00000601010,;ZNF675,non_coding_transcript_exon_variant,,ENST00000600299,;ZNF675,downstream_gene_variant,,ENST00000597074,;	611	88	106	SUCCESS
ZNF675	171392	.	GRCh37	19	23869871	23869871	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	59	0	ENST00000359788.4:c.-36A>C		p.*12*	ENST00000359788	NM_138330.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32981.1	.	RADIA|MUTECT|MUSE	.	AGCTGTGGATC	NONE	.	.	.	.	.	ENSP00000352836	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000359788	Transcript	.	.	ENSG00000197372	30768	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,5_prime_UTR_variant,,ENST00000359788,;ZNF675,5_prime_UTR_variant,,ENST00000601010,;ZNF675,5_prime_UTR_variant,,ENST00000601935,;ZNF675,5_prime_UTR_variant,,ENST00000596211,;ZNF675,5_prime_UTR_variant,,ENST00000600313,;ZNF675,5_prime_UTR_variant,,ENST00000599168,;ZNF675,upstream_gene_variant,,ENST00000599535,;ZNF675,5_prime_UTR_variant,,ENST00000597074,;	134	59	28	SUCCESS
ZFP82	284406	.	GRCh37	19	36884388	36884388	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	56	106	0	ENST00000392161.3:c.854A>C	p.Lys285Thr	p.K285T	ENST00000392161	NM_133466.2	285	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS12493.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTTTACAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000431265	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392161	Transcript	.	.	ENSG00000181007	28682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.04)	.	ZFP82_HUMAN	ZFP82	HGNC	D3Y299_HUMAN	.	UPI0000071159	SNV	ZFP82,missense_variant,p.Lys285Thr,ENST00000392171,;ZFP82,missense_variant,p.Lys285Thr,ENST00000392161,;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	1097	106	110	SUCCESS
ZNF383	163087	.	GRCh37	19	37734483	37734484	+	frameshift_variant	Frame_Shift_Del	DEL	CC	CC	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	CC	CC	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	70	0	ENST00000352998.3:c.1346_1347del	p.Pro449LeufsTer2	p.P449Lfs*2	ENST00000352998	NM_152604.1	449	CCc/c	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS12501.1	1345-1346	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAAGCCCTATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF172,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000464871	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000589413	Transcript	.	.	ENSG00000188283	18609	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN383_HUMAN	ZNF383	HGNC	K7EJN0_HUMAN,B3KRK0_HUMAN	.	UPI00000717CC	deletion	ZNF383,frameshift_variant,p.Pro449LeufsTer2,ENST00000589413,;ZNF383,frameshift_variant,p.Pro449LeufsTer2,ENST00000352998,;ZNF383,frameshift_variant,p.Pro449LeufsTer2,ENST00000590503,;ZNF383,downstream_gene_variant,,ENST00000588371,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;ZNF383,downstream_gene_variant,,ENST00000588250,;	1928-1929	70	69	SUCCESS
POU2F2	5452	.	GRCh37	19	42599725	42599725	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	78	0	ENST00000526816.2:c.926G>A	p.Arg309His	p.R309H	ENST00000526816		309	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS56095.1	926	RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGCGGACG	NONE	.	.	Prints_domain:PR00028,Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF46,PROSITE_profiles:PS50071	.	.	ENSP00000431603	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000526816	Transcript	.	.	ENSG00000028277	9213	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PO2F2_HUMAN	POU2F2	HGNC	Q9UMJ4_HUMAN,Q9UMI6_HUMAN	.	UPI0000186851	SNV	POU2F2,missense_variant,p.Arg315His,ENST00000560398,;POU2F2,missense_variant,p.Arg309His,ENST00000526816,;POU2F2,missense_variant,p.Arg14His,ENST00000598842,;POU2F2,missense_variant,p.Arg293His,ENST00000533720,;POU2F2,missense_variant,p.Arg293His,ENST00000389341,;POU2F2,missense_variant,p.Arg311His,ENST00000560804,;POU2F2,missense_variant,p.Arg309His,ENST00000342301,;POU2F2,missense_variant,p.Arg309His,ENST00000529952,;POU2F2,missense_variant,p.Arg293His,ENST00000529067,;POU2F2,missense_variant,p.Arg254His,ENST00000560558,;POU2F2,downstream_gene_variant,,ENST00000528894,;POU2F2,downstream_gene_variant,,ENST00000526831,;POU2F2,upstream_gene_variant,,ENST00000533548,;POU2F2,downstream_gene_variant,,ENST00000531773,;POU2F2,3_prime_UTR_variant,,ENST00000534559,;POU2F2,downstream_gene_variant,,ENST00000530982,;	942	79	70	SUCCESS
ERCC2	2068	.	GRCh37	19	45860557	45860557	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	57	162	0	ENST00000391945.4:c.1450A>G	p.Thr484Ala	p.T484A	ENST00000391945	NM_000400.3	484	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS33049.1	1450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGTCATGG	CODON|p.T484M|c.1451C>T|3	.	.	hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604	.	.	ENSP00000375809	.	15/23	.	.	.	.	.	.	.	.	COSM1756993	15/23	PASS	ENST00000391945	Transcript	1	.	ENSG00000104884	3434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.507)	.	deleterious(0.01)	1	ERCC2_HUMAN	ERCC2	HGNC	K7EIT8_HUMAN,A8MX75_HUMAN	.	UPI0000139012	SNV	ERCC2,missense_variant,p.Thr460Ala,ENST00000391941,;ERCC2,missense_variant,p.Thr406Ala,ENST00000391944,;ERCC2,missense_variant,p.Thr484Ala,ENST00000391945,;ERCC2,downstream_gene_variant,,ENST00000485403,;ERCC2,downstream_gene_variant,,ENST00000391940,;ERCC2,missense_variant,p.Thr192Ala,ENST00000587376,;ERCC2,non_coding_transcript_exon_variant,,ENST00000588652,;ERCC2,non_coding_transcript_exon_variant,,ENST00000391942,;	1528	162	154	SUCCESS
PRKD2	25865	.	GRCh37	19	47214295	47214320	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GCTGTAGGCGGAAAATAGGGGTGGAT	GCTGTAGGCGGAAAATAGGGGTGGAT	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	GCTGTAGGCGGAAAATAGGGGTGGAT	GCTGTAGGCGGAAAATAGGGGTGGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	128	0	ENST00000291281.4:c.380-25_380del		p.X127_splice	ENST00000291281		127		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12689.1	?-380	PINDEL|VARSCANS*	.	GCCGAGGCTGTAGGCGGAAAATAGGGGTGGATGCTTG	NONE	.	.	.	.	.	ENSP00000393978	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	HIGH	3/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	deletion	PRKD2,splice_acceptor_variant,,ENST00000601605,;PRKD2,splice_acceptor_variant,,ENST00000598633,;PRKD2,splice_acceptor_variant,,ENST00000595515,;PRKD2,splice_acceptor_variant,,ENST00000600194,;PRKD2,splice_acceptor_variant,,ENST00000601806,;PRKD2,splice_acceptor_variant,,ENST00000433867,;PRKD2,splice_acceptor_variant,,ENST00000291281,;PRKD2,splice_acceptor_variant,,ENST00000595132,;MIR320E,upstream_gene_variant,,ENST00000390179,;PRKD2,splice_acceptor_variant,,ENST00000597641,;PRKD2,splice_acceptor_variant,,ENST00000597088,;	?-858	128	88	SUCCESS
TEAD2	8463	.	GRCh37	19	49845749	49845749	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	52	139	0	ENST00000311227.2:c.1176G>C	p.Gln392His	p.Q392H	ENST00000311227	NM_001256659.1	392	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS59406.1	1188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCTGCCG	NONE	.	.	hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF3,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603	.	.	ENSP00000472109	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000598810	Transcript	.	.	ENSG00000074219	11715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	.	TEAD2	HGNC	M0R290_HUMAN,M0R1T9_HUMAN	.	UPI000013D895	SNV	TEAD2,missense_variant,p.Gln392His,ENST00000311227,;TEAD2,missense_variant,p.Gln396His,ENST00000598810,;TEAD2,missense_variant,p.Gln395His,ENST00000377214,;TEAD2,missense_variant,p.Gln396His,ENST00000593945,;TEAD2,missense_variant,p.Gln264His,ENST00000539846,;TEAD2,missense_variant,p.Gln395His,ENST00000601519,;CD37,downstream_gene_variant,,ENST00000323906,;CD37,downstream_gene_variant,,ENST00000535669,;CD37,downstream_gene_variant,,ENST00000594743,;CD37,downstream_gene_variant,,ENST00000426897,;TEAD2,downstream_gene_variant,,ENST00000596757,;CD37,downstream_gene_variant,,ENST00000598095,;CTC-301O7.4,upstream_gene_variant,,ENST00000358234,;CTC-301O7.4,upstream_gene_variant,,ENST00000602721,;CTC-301O7.4,upstream_gene_variant,,ENST00000602554,;CD37,intron_variant,,ENST00000600121,;CD37,downstream_gene_variant,,ENST00000597033,;CD37,downstream_gene_variant,,ENST00000596426,;TEAD2,downstream_gene_variant,,ENST00000598397,;CD37,downstream_gene_variant,,ENST00000593512,;TEAD2,downstream_gene_variant,,ENST00000598823,;CD37,downstream_gene_variant,,ENST00000597852,;CD37,downstream_gene_variant,,ENST00000391859,;CD37,downstream_gene_variant,,ENST00000595725,;	1294	139	157	SUCCESS
ZNF432	9668	.	GRCh37	19	52538392	52538392	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	80	0	ENST00000221315.5:c.540T>A	p.Ser180=	p.S180=	ENST00000221315	NM_014650.2	180	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12848.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACAGAGAA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165	.	.	ENSP00000470488	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000594154	Transcript	.	.	ENSG00000256087	20810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN432_HUMAN	ZNF432	HGNC	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN	.	UPI0000139CDC	SNV	ZNF432,synonymous_variant,p.%3D,ENST00000221315,;ZNF432,synonymous_variant,p.%3D,ENST00000594154,;ZNF432,downstream_gene_variant,,ENST00000598745,;ZNF614,upstream_gene_variant,,ENST00000597952,;ZNF432,downstream_gene_variant,,ENST00000600368,;	753	80	94	SUCCESS
NLRP11	204801	.	GRCh37	19	56320455	56320455	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	53	177	0	ENST00000589093.1:c.1521T>G	p.Leu507=	p.L507=	ENST00000589093		507	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12935.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCAAGAAT	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62	.	.	ENSP00000409898	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000443188	Transcript	.	.	ENSG00000179873	22945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL11_HUMAN	NLRP11	HGNC	K7ESF9_HUMAN	.	UPI000013ED9D	SNV	NLRP11,synonymous_variant,p.%3D,ENST00000589093,;NLRP11,synonymous_variant,p.%3D,ENST00000592953,;NLRP11,synonymous_variant,p.%3D,ENST00000589824,;NLRP11,synonymous_variant,p.%3D,ENST00000443188,;NLRP11,synonymous_variant,p.%3D,ENST00000360133,;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,synonymous_variant,p.%3D,ENST00000593244,;NLRP11,synonymous_variant,p.%3D,ENST00000590409,;	2232	177	166	SUCCESS
FBN3	84467	.	GRCh37	19	8211044	8211044	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	12	243	0	ENST00000270509.2:c.316G>A	p.Gly106Arg	p.G106R	ENST00000270509	NM_032447.3	106	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12196.1	316	MUTECT|MUSE	.	CGTCCCATCCG	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,SMART_domains:SM00181,PIRSF_domain:PIRSF036312	.	.	ENSP00000470498	.	4/64	.	.	.	.	.	.	.	.	.	4/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.168)	.	deleterious(0)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Gly106Arg,ENST00000600128,;FBN3,missense_variant,p.Gly106Arg,ENST00000601739,;FBN3,missense_variant,p.Gly106Arg,ENST00000270509,;	731	243	229	SUCCESS
ACTL9	284382	.	GRCh37	19	8807893	8807893	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	98	0	ENST00000324436.3:c.1159C>T	p.Leu387=	p.L387=	ENST00000324436	NM_178525.3	387	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12207.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGGATGG	NONE	.	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194	.	.	ENSP00000316674	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000324436	Transcript	.	.	ENSG00000181786	28494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTL9_HUMAN	ACTL9	HGNC	.	.	UPI000014129E	SNV	ACTL9,synonymous_variant,p.%3D,ENST00000324436,;	1280	98	98	SUCCESS
ZNF560	147741	.	GRCh37	19	9578276	9578276	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	136	0	ENST00000301480.4:c.1347A>G	p.Gly449=	p.G449=	ENST00000301480	NM_152476.2	449	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS12214.1	1347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTCCAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000301480	.	10/10	.	.	.	.	.	.	.	.	COSM3971447	10/10	PASS	ENST00000301480	Transcript	.	.	ENSG00000198028	26484	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZN560_HUMAN	ZNF560	HGNC	.	.	UPI000013E720	SNV	ZNF560,synonymous_variant,p.%3D,ENST00000301480,;ZNF560,downstream_gene_variant,,ENST00000585974,;	1561	136	120	SUCCESS
VAV3	10451	.	GRCh37	1	108322079	108322079	+	synonymous_variant	Silent	SNP	A	A	T	rs752109446	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	79	0	ENST00000370056.4:c.357T>A	p.Pro119=	p.P119=	ENST00000370056	NM_006113.4	119	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS785.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATAGGTGT	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000359073	.	3/27	.	.	.	.	.	.	.	.	rs752109446	3/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,synonymous_variant,p.%3D,ENST00000490388,;VAV3,synonymous_variant,p.%3D,ENST00000371846,;VAV3,synonymous_variant,p.%3D,ENST00000370056,;VAV3,synonymous_variant,p.%3D,ENST00000527011,;AL591042.1,upstream_gene_variant,,ENST00000579317,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000524574,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000530671,;	632	79	101	SUCCESS
CELSR2	1952	.	GRCh37	1	109795272	109795272	+	synonymous_variant	Silent	SNP	C	C	T	rs760728043	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	90	144	0	ENST00000271332.3:c.2571C>T	p.Gly857=	p.G857=	ENST00000271332	NM_001408.2	857	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS796.1	2571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGACGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000271332	.	1/34	.	.	.	.	.	.	.	.	rs760728043	1/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,synonymous_variant,p.%3D,ENST00000271332,;	2632	144	199	SUCCESS
CLCN6	1185	.	GRCh37	1	11896203	11896203	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs753875981	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	49	138	0	ENST00000346436.6:c.1973A>T	p.Lys658Met	p.K658M	ENST00000346436	NM_001286.3	658	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS138.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAAGTTCA	NONE	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69,PROSITE_profiles:PS51371	.	.	ENSP00000234488	.	18/23	.	.	.	.	.	.	.	.	rs753875981	18/23	PASS	ENST00000346436	Transcript	.	.	ENSG00000011021	2024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.17)	.	CLCN6_HUMAN	CLCN6	HGNC	.	.	UPI000013F2D3	SNV	CLCN6,missense_variant,p.Lys636Met,ENST00000376487,;CLCN6,missense_variant,p.Lys658Met,ENST00000346436,;CLCN6,missense_variant,p.Lys658Met,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;NPPA-AS1,upstream_gene_variant,,ENST00000446542,;CLCN6,downstream_gene_variant,,ENST00000494028,;	2025	138	131	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144921895	144921895	+	synonymous_variant	Silent	SNP	A	A	G	rs587609805	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	321	47	318	0	ENST00000369354.3:c.1134T>C	p.Phe378=	p.F378=	ENST00000369354		378	ttT/ttC	0	.	T:0	.	T:0	.	G	F	protein_coding	YES	CCDS55627.1	1134	RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAAATTG	NONE	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	T:0	.	ENSP00000358363	T:0.001	9/44	.	.	.	.	.	.	.	.	rs587609805	9/44	PASS	ENST00000369356	Transcript	.	T:0.0002	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000479408,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000532801,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369349,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313431,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,synonymous_variant,p.%3D,ENST00000529945,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369351,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000496263,;PDE4DIP,upstream_gene_variant,,ENST00000525886,;	1425	318	369	SUCCESS
RPRD2	23248	.	GRCh37	1	150437008	150437008	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	29	0	ENST00000369068.4:c.1417A>G	p.Ser473Gly	p.S473G	ENST00000369068	NM_015203.3	473	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS44216.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCAGTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0	.	.	ENSP00000358064	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000369068	Transcript	.	.	ENSG00000163125	29039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	RPRD2_HUMAN	RPRD2	HGNC	.	.	UPI00001D7CA8	SNV	RPRD2,missense_variant,p.Ser473Gly,ENST00000369068,;RPRD2,missense_variant,p.Ser447Gly,ENST00000539519,;RPRD2,missense_variant,p.Ser447Gly,ENST00000401000,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	1421	29	53	SUCCESS
PI4KB	5298	.	GRCh37	1	151280253	151280253	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	96	197	0	ENST00000368873.1:c.979G>T	p.Glu327Ter	p.E327*	ENST00000368873		327	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS993.1	1015	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTCTCTCT	NONE	.	.	hmmpanther:PTHR10048:SF22,hmmpanther:PTHR10048,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112	.	.	ENSP00000357869	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000368875	Transcript	.	.	ENSG00000143393	8984	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI4KB_HUMAN	PI4KB	HGNC	F8W860_HUMAN,E9PL47_HUMAN,E9PIH4_HUMAN	.	UPI000007161F	SNV	PI4KB,stop_gained,p.Glu312Ter,ENST00000368874,;PI4KB,stop_gained,p.Glu327Ter,ENST00000368873,;PI4KB,stop_gained,p.Glu312Ter,ENST00000368872,;PI4KB,stop_gained,p.Glu339Ter,ENST00000271657,;PI4KB,stop_gained,p.Glu339Ter,ENST00000368875,;PI4KB,5_prime_UTR_variant,,ENST00000529142,;PI4KB,5_prime_UTR_variant,,ENST00000430800,;PI4KB,5_prime_UTR_variant,,ENST00000489223,;PI4KB,upstream_gene_variant,,ENST00000460323,;	1596	197	206	SUCCESS
B4GALT3	8703	.	GRCh37	1	161141842	161141842	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	36	108	0	ENST00000319769.5:c.946C>A	p.Gln316Lys	p.Q316K	ENST00000319769	NM_003779.3	316	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1222.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTGCGTCC	NONE	.	.	hmmpanther:PTHR19300:SF33,hmmpanther:PTHR19300,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000320965	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000319769	Transcript	.	.	ENSG00000158850	926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.91)	.	B4GT3_HUMAN	B4GALT3	HGNC	.	.	UPI0000070AD6	SNV	B4GALT3,missense_variant,p.Gln316Lys,ENST00000367998,;B4GALT3,missense_variant,p.Gln316Lys,ENST00000319769,;PPOX,intron_variant,,ENST00000432542,;PPOX,intron_variant,,ENST00000535223,;PPOX,downstream_gene_variant,,ENST00000367999,;PPOX,downstream_gene_variant,,ENST00000544598,;PPOX,downstream_gene_variant,,ENST00000537829,;PPOX,downstream_gene_variant,,ENST00000352210,;PPOX,downstream_gene_variant,,ENST00000537523,;B4GALT3,non_coding_transcript_exon_variant,,ENST00000470882,;B4GALT3,non_coding_transcript_exon_variant,,ENST00000486938,;PPOX,intron_variant,,ENST00000497522,;PPOX,intron_variant,,ENST00000495483,;B4GALT3,downstream_gene_variant,,ENST00000496313,;B4GALT3,downstream_gene_variant,,ENST00000482288,;B4GALT3,downstream_gene_variant,,ENST00000465740,;B4GALT3,downstream_gene_variant,,ENST00000493164,;PPOX,downstream_gene_variant,,ENST00000490768,;PPOX,downstream_gene_variant,,ENST00000470607,;B4GALT3,downstream_gene_variant,,ENST00000467863,;PPOX,downstream_gene_variant,,ENST00000494216,;PPOX,downstream_gene_variant,,ENST00000466452,;B4GALT3,downstream_gene_variant,,ENST00000466504,;B4GALT3,downstream_gene_variant,,ENST00000460415,;PPOX,downstream_gene_variant,,ENST00000462977,;B4GALT3,downstream_gene_variant,,ENST00000487004,;PPOX,downstream_gene_variant,,ENST00000460611,;PPOX,downstream_gene_variant,,ENST00000462866,;PPOX,downstream_gene_variant,,ENST00000468968,;PPOX,downstream_gene_variant,,ENST00000539753,;PPOX,downstream_gene_variant,,ENST00000479246,;PPOX,downstream_gene_variant,,ENST00000541818,;	1169	108	131	SUCCESS
SCYL3	57147	.	GRCh37	1	169847817	169847817	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	187	237	0	ENST00000367770.1:c.309G>T	p.Gly103=	p.G103=	ENST00000367770		103	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1287.1	309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATCCCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR12984:SF13,hmmpanther:PTHR12984,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356746	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000367772	Transcript	.	.	ENSG00000000457	19285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACE1_HUMAN	SCYL3	HGNC	.	.	UPI00001AE580	SNV	SCYL3,synonymous_variant,p.%3D,ENST00000367771,;SCYL3,synonymous_variant,p.%3D,ENST00000367770,;SCYL3,synonymous_variant,p.%3D,ENST00000423670,;SCYL3,synonymous_variant,p.%3D,ENST00000367772,;SCYL3,non_coding_transcript_exon_variant,,ENST00000470238,;	507	237	358	SUCCESS
RCC2	55920	.	GRCh37	1	17764745	17764745	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	34	0	ENST00000375433.3:c.266A>G	p.Glu89Gly	p.E89G	ENST00000375433	NM_001136204.2	89	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS181.1	266	RADIA|MUSE	.	TGTGCTCGGGT	NONE	.	.	.	.	.	ENSP00000364585	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000375436	Transcript	.	.	ENSG00000179051	30297	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.055)	.	tolerated(0.05)	.	RCC2_HUMAN	RCC2	HGNC	.	.	UPI0000074608	SNV	RCC2,missense_variant,p.Glu89Gly,ENST00000375436,;RCC2,missense_variant,p.Glu89Gly,ENST00000375433,;	454	34	22	SUCCESS
RASAL2	9462	.	GRCh37	1	178269226	178269226	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765638263	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	39	67	0	ENST00000367649.3:c.430T>C	p.Tyr144His	p.Y144H	ENST00000367649		144	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS1321.2	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGTACCCA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF00169,SMART_domains:SM00233	.	.	ENSP00000356621	.	3/18	.	.	.	.	.	.	.	.	rs765638263	3/18	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	tolerated(0.5)	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,missense_variant,p.Tyr144His,ENST00000367649,;RASAL2,missense_variant,p.Tyr126His,ENST00000448150,;RASAL2,downstream_gene_variant,,ENST00000465723,;	782	67	78	SUCCESS
TPR	7175	.	GRCh37	1	186295352	186295352	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	67	124	0	ENST00000367478.4:c.5905G>A	p.Glu1969Lys	p.E1969K	ENST00000367478	NM_003292.2	1969	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS41446.1	5905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTCATCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18898	.	.	ENSP00000356448	.	41/51	.	.	.	.	.	.	.	.	.	41/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,missense_variant,p.Glu1969Lys,ENST00000367478,;TPR,upstream_gene_variant,,ENST00000467810,;TPR,non_coding_transcript_exon_variant,,ENST00000492973,;	6202	124	129	SUCCESS
UBR4	23352	.	GRCh37	1	19482082	19482082	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746542186	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	65	210	0	ENST00000375254.3:c.6153C>A	p.Phe2051Leu	p.F2051L	ENST00000375254	NM_020765.2	2051	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS189.1	6153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGGAAGGT	BUFFER|p.T2050S|c.6148A>T|3	.	.	Superfamily_domains:SSF50978,hmmpanther:PTHR21725	.	.	ENSP00000364403	.	43/106	.	.	.	.	.	.	.	.	rs746542186	43/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Phe2051Leu,ENST00000375267,;UBR4,missense_variant,p.Phe761Leu,ENST00000417040,;UBR4,missense_variant,p.Phe2051Leu,ENST00000375254,;UBR4,missense_variant,p.Phe2051Leu,ENST00000375217,;UBR4,missense_variant,p.Phe2051Leu,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000425413,;UBR4,upstream_gene_variant,,ENST00000497018,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	6181	210	218	SUCCESS
GPR25	2848	.	GRCh37	1	200843249	200843249	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	33	0	ENST00000304244.2:c.1084T>G	p.Ter362GluextTer?	p.*362Eext*?	ENST00000304244	NM_005298.3	362	Tag/Gag	0	.	.	.	.	.	G	*/E	protein_coding	YES	CCDS1405.1	1084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTAGCTG	NONE	.	.	.	.	.	ENSP00000301917	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304244	Transcript	.	.	ENSG00000170128	4480	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR25_HUMAN	GPR25	HGNC	.	.	UPI000013E957	SNV	GPR25,stop_lost,p.Ter362GluextTer?,ENST00000304244,;	1167	33	35	SUCCESS
CNTN2	6900	.	GRCh37	1	205038645	205038645	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	30	113	0	ENST00000331830.4:c.2152A>G	p.Ser718Gly	p.S718G	ENST00000331830	NM_005076.3	718	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS1449.1	2152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCAGCGGA	BUFFER|p.S718S|c.2154C>T|3	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50853,Low_complexity_(Seg):seg	.	.	ENSP00000330633	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,missense_variant,p.Ser718Gly,ENST00000331830,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,upstream_gene_variant,,ENST00000525433,;CNTN2,downstream_gene_variant,,ENST00000527340,;CNTN2,downstream_gene_variant,,ENST00000530594,;	2436	113	135	SUCCESS
PRKCZ	5590	.	GRCh37	1	2103755	2103755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	25	112	0	ENST00000378567.3:c.1213G>T	p.Gly405Cys	p.G405C	ENST00000378567	NM_002744.4	405	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS37.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGGTGAC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000554,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF60,PROSITE_profiles:PS50011	.	.	ENSP00000367830	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000378567	Transcript	.	.	ENSG00000067606	9412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	KPCZ_HUMAN	PRKCZ	HGNC	J3KRP7_HUMAN,F2Z2H9_HUMAN,D6RGG1_HUMAN,D6RG01_HUMAN,D6REZ8_HUMAN,D6RDM0_HUMAN,D6RD31_HUMAN,D6RCN4_HUMAN,D6RC84_HUMAN,D6RBD4_HUMAN,D6RAU1_HUMAN,D6RAN5_HUMAN	.	UPI0000169EB7	SNV	PRKCZ,missense_variant,p.Gly222Cys,ENST00000400921,;PRKCZ,missense_variant,p.Gly301Cys,ENST00000461106,;PRKCZ,missense_variant,p.Gly405Cys,ENST00000378567,;PRKCZ,missense_variant,p.Gly222Cys,ENST00000400920,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000472017,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000479263,;PRKCZ,missense_variant,p.Gly218Cys,ENST00000478770,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000505322,;	1374	112	100	SUCCESS
LBR	3930	.	GRCh37	1	225611703	225611703	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	43	152	0	ENST00000272163.4:c.75A>G	p.Val25=	p.V25=	ENST00000272163	NM_002296.3	25	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS1545.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTACTTC	NONE	.	.	Superfamily_domains:SSF63748,SMART_domains:SM00333,Pfam_domain:PF09465	.	.	ENSP00000339883	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000338179	Transcript	.	.	ENSG00000143815	6518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBR_HUMAN	LBR	HGNC	C9JXK0_HUMAN,C9JES9_HUMAN	.	UPI000012E256	SNV	LBR,synonymous_variant,p.%3D,ENST00000338179,;LBR,synonymous_variant,p.%3D,ENST00000421383,;LBR,synonymous_variant,p.%3D,ENST00000425080,;LBR,synonymous_variant,p.%3D,ENST00000272163,;LBR,upstream_gene_variant,,ENST00000488632,;LBR,upstream_gene_variant,,ENST00000487054,;	201	152	175	SUCCESS
OBSCN	84033	.	GRCh37	1	228469861	228469861	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs189169421	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	154	229	0	ENST00000422127.1:c.8425T>C	p.Phe2809Leu	p.F2809L	ENST00000422127	NM_001098623.2	2809	Ttc/Ctc	0	G:0	G:0	.	G:0	.	C	F/L	protein_coding	YES	CCDS59204.1	9712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTTCTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	G:0	G:0.0012	ENSP00000455507	G:0.001	36/116	.	.	.	.	.	.	.	.	rs189169421,COSM99094,COSM99095	36/116	PASS	ENST00000570156	Transcript	.	G:0.0006	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.995)	G:0.002	.	0,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Phe85Leu,ENST00000483539,;OBSCN,missense_variant,p.Phe2809Leu,ENST00000284548,;OBSCN,missense_variant,p.Phe1656Leu,ENST00000359599,;OBSCN,missense_variant,p.Phe657Leu,ENST00000366706,;OBSCN,missense_variant,p.Phe3238Leu,ENST00000570156,;OBSCN,missense_variant,p.Phe2809Leu,ENST00000422127,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,non_coding_transcript_exon_variant,,ENST00000366704,;	9786	229	273	SUCCESS
RAB4A	5867	.	GRCh37	1	229431599	229431599	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141754859	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	29	100	0	ENST00000366690.4:c.232G>T	p.Val78Leu	p.V78L	ENST00000366690	NM_004578.3	78	Gtg/Ttg	0	A:0	.	.	.	.	T	V/L	protein_coding	YES	CCDS31050.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGTGACG	NONE	byCluster	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF439,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000355651	.	4/8	.	.	.	.	.	.	.	.	rs141754859	4/8	PASS	ENST00000366690	Transcript	.	.	ENSG00000168118	9781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.324)	.	deleterious(0.03)	.	RAB4A_HUMAN	RAB4A	HGNC	.	.	UPI0000161F4E	SNV	RAB4A,missense_variant,p.Val78Leu,ENST00000366690,;RAB4A,non_coding_transcript_exon_variant,,ENST00000473894,;	440	100	114	SUCCESS
URB2	9816	.	GRCh37	1	229779359	229779359	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	116	188	0	ENST00000258243.2:c.3714G>A	p.Gly1238=	p.G1238=	ENST00000258243	NM_014777.2	1238	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31052.1	3714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGGACGAC	NONE	.	.	hmmpanther:PTHR15682	.	.	ENSP00000258243	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000258243	Transcript	.	.	ENSG00000135763	28967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	URB2_HUMAN	URB2	HGNC	Q5VYD0_HUMAN	.	UPI000013CFBD	SNV	URB2,synonymous_variant,p.%3D,ENST00000258243,;	3850	188	235	SUCCESS
MAP10	54627	.	GRCh37	1	232941381	232941381	+	synonymous_variant	Silent	SNP	G	G	A	rs1196636715	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	24	0	ENST00000418460.1:c.612G>A	p.Leu204=	p.L204=	ENST00000418460	NM_019090.2	204	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44334.1	612	MUTECT|MUSE|VARSCANS	.	CTGCTGGACTT	BUFFER|p.P207P|c.621C>G|4,BUFFER|p.P207P|c.621C>G|4	.	.	hmmpanther:PTHR21831,hmmpanther:PTHR21831:SF1	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,synonymous_variant,p.%3D,ENST00000418460,;	739	24	45	SUCCESS
PIGV	55650	.	GRCh37	1	27124244	27124259	+	frameshift_variant	Frame_Shift_Del	DEL	GTTCTCCAGTCACACG	GTTCTCCAGTCACACG	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	GTTCTCCAGTCACACG	GTTCTCCAGTCACACG	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	147	0	ENST00000078527.4:c.1391_1406del	p.Cys464TyrfsTer4	p.C464Yfs*4	ENST00000078527	NM_017837.3	464	tGTTCTCCAGTCACACGa/ta	0	.	.	.	.	.	-	CSPVTR/X	protein_coding	YES	CCDS287.1	1391-1406	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACCTGTTCTCCAGTCACACGATACA	NONE	.	.	Pfam_domain:PF04188,hmmpanther:PTHR12468:SF2,hmmpanther:PTHR12468	.	.	ENSP00000363260	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374145	Transcript	.	.	ENSG00000060642	26031	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIGV_HUMAN	PIGV	HGNC	.	.	UPI000004A060	deletion	PIGV,frameshift_variant,p.Cys236TyrfsTer4,ENST00000449950,;PIGV,frameshift_variant,p.Cys464TyrfsTer4,ENST00000374145,;PIGV,frameshift_variant,p.Cys464TyrfsTer4,ENST00000078527,;PIGV,downstream_gene_variant,,ENST00000430292,;PIGV,downstream_gene_variant,,ENST00000455364,;PIGV,downstream_gene_variant,,ENST00000431541,;PIGV,3_prime_UTR_variant,,ENST00000472757,;	2073-2088	147	110	SUCCESS
RCC1	1104	.	GRCh37	1	28861881	28861881	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs528320406	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	38	95	0	ENST00000373832.1:c.650G>C	p.Arg217Pro	p.R217P	ENST00000373832	NM_001269.4	217	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS41295.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGCAAG	NONE	byCluster	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF123,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000362937	.	7/11	.	.	.	.	.	.	.	.	rs528320406,COSM184669	7/11	PASS	ENST00000373831	Transcript	.	.	ENSG00000180198	1913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.984)	.	deleterious(0.01)	0,1	RCC1_HUMAN	RCC1	HGNC	.	.	UPI0000204066	SNV	RCC1,missense_variant,p.Arg217Pro,ENST00000430407,;RCC1,missense_variant,p.Arg217Pro,ENST00000419074,;RCC1,missense_variant,p.Arg253Pro,ENST00000434290,;RCC1,missense_variant,p.Arg217Pro,ENST00000427469,;RCC1,missense_variant,p.Arg248Pro,ENST00000373831,;RCC1,missense_variant,p.Arg217Pro,ENST00000373833,;RCC1,missense_variant,p.Arg217Pro,ENST00000398958,;RCC1,missense_variant,p.Arg217Pro,ENST00000373832,;RCC1,missense_variant,p.Arg234Pro,ENST00000411533,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,non_coding_transcript_exon_variant,,ENST00000429051,;RCC1,upstream_gene_variant,,ENST00000478232,;	804	95	110	SUCCESS
GJB5	2709	.	GRCh37	1	35223387	35223387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	93	0	ENST00000338513.1:c.456C>A	p.Phe152Leu	p.F152L	ENST00000338513	NM_005268.3	152	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS382.1	456	RADIA|MUTECT|MUSE	.	TCATTCTACCC	NONE	.	.	hmmpanther:PTHR11984:SF28,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF10582,SMART_domains:SM01089,Prints_domain:PR00206	.	.	ENSP00000340811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000338513	Transcript	.	.	ENSG00000189280	4287	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(1)	.	CXB5_HUMAN	GJB5	HGNC	.	.	UPI0000051E62	SNV	GJB5,missense_variant,p.Phe152Leu,ENST00000338513,;GJB4,upstream_gene_variant,,ENST00000339480,;RP1-34M23.5,downstream_gene_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	629	93	86	SUCCESS
WDR65	0	.	GRCh37	1	43638463	43638463	+	synonymous_variant	Silent	SNP	T	T	C	rs1234166756	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	23	135	0	ENST00000372492.4:c.39T>C	p.Gly13=	p.G13=	ENST00000372492	NM_001195831.2	13	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS479.1	39	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTCTTCG	NONE	.	.	hmmpanther:PTHR32215	.	.	ENSP00000435310	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000528956	Transcript	.	.	ENSG00000243710	26485	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR65_HUMAN	WDR65	HGNC	E9PRV3_HUMAN	.	UPI000013E331	SNV	WDR65,synonymous_variant,p.%3D,ENST00000529956,;WDR65,synonymous_variant,p.%3D,ENST00000528956,;WDR65,synonymous_variant,p.%3D,ENST00000372492,;EBNA1BP2,upstream_gene_variant,,ENST00000236051,;EBNA1BP2,upstream_gene_variant,,ENST00000431635,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000461557,;EBNA1BP2,upstream_gene_variant,,ENST00000463906,;EBNA1BP2,upstream_gene_variant,,ENST00000483082,;EBNA1BP2,upstream_gene_variant,,ENST00000491223,;EBNA1BP2,upstream_gene_variant,,ENST00000472982,;WDR65,synonymous_variant,p.%3D,ENST00000533339,;WDR65,synonymous_variant,p.%3D,ENST00000525227,;	185	135	146	SUCCESS
DMBX1	127343	.	GRCh37	1	46972704	46972704	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150745846	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	127	353	0	ENST00000371956.4:c.22G>A	p.Gly8Ser	p.G8S	ENST00000371956	NM_147192.2	8	Ggc/Agc	0	A:0	.	.	.	.	A	G/S	protein_coding	YES	CCDS536.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACGGCTAC	NONE	.	.	.	.	A:0.0001	ENSP00000353132	.	1/4	.	.	.	.	.	.	.	.	rs150745846	1/4	PASS	ENST00000360032	Transcript	.	.	ENSG00000197587	19026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious(0.03)	.	DMBX1_HUMAN	DMBX1	HGNC	.	.	UPI0000070B63	SNV	DMBX1,missense_variant,p.Gly8Ser,ENST00000360032,;DMBX1,missense_variant,p.Gly8Ser,ENST00000371956,;	36	353	365	SUCCESS
NRD1	0	.	GRCh37	1	52289359	52289359	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	66	179	0	ENST00000354831.7:c.1340T>C	p.Met447Thr	p.M447T	ENST00000354831	NM_002525.2	447	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS559.1	1340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATGTAA	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,Gene3D:3.30.830.10,Pfam_domain:PF05193,Superfamily_domains:SSF63411	.	.	ENSP00000346890	.	9/33	.	.	.	.	.	.	.	.	.	9/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,missense_variant,p.Met447Thr,ENST00000354831,;NRD1,missense_variant,p.Met379Thr,ENST00000352171,;NRD1,missense_variant,p.Met247Thr,ENST00000544028,;NRD1,missense_variant,p.Met315Thr,ENST00000539524,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000473805,;NRD1,downstream_gene_variant,,ENST00000475715,;	1530	179	165	SUCCESS
ZFYVE9	9372	.	GRCh37	1	52704848	52704848	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772389529	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	5	113	0	ENST00000287727.3:c.1759C>A	p.Leu587Ile	p.L587I	ENST00000287727	NM_004799.3	587	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS563.1	1759	MUTECT|MUSE	.	CTAATCTTAAA	NONE	.	.	PIRSF_domain:PIRSF037289	.	.	ENSP00000287727	.	4/19	.	.	.	.	.	.	.	.	rs772389529	4/19	PASS	ENST00000287727	Transcript	.	.	ENSG00000157077	6775	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	ZFYV9_HUMAN	ZFYVE9	HGNC	.	.	UPI0000001620	SNV	ZFYVE9,missense_variant,p.Leu587Ile,ENST00000371591,;ZFYVE9,missense_variant,p.Leu587Ile,ENST00000357206,;ZFYVE9,missense_variant,p.Leu587Ile,ENST00000287727,;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	1931	113	126	SUCCESS
JUN	3725	.	GRCh37	1	59249078	59249078	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	28	0	ENST00000371222.2:c.-336T>A		p.*112*	ENST00000371222	NM_002228.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS610.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCAGCGGC	NONE	.	.	.	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	SNV	JUN,5_prime_UTR_variant,,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	708	28	37	SUCCESS
L1TD1	54596	.	GRCh37	1	62676374	62676374	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1240300838	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	43	149	0	ENST00000498273.1:c.1928T>C	p.Leu643Ser	p.L643S	ENST00000498273	NM_019079.4	643	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS619.1	1928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTTGGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11505,hmmpanther:PTHR11505:SF189,Pfam_domain:PF02994	.	.	ENSP00000419901	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000498273	Transcript	.	.	ENSG00000240563	25595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	tolerated(0.08)	.	LITD1_HUMAN	L1TD1	HGNC	.	.	UPI000013E18E	SNV	L1TD1,missense_variant,p.Leu643Ser,ENST00000498273,;Y_RNA,upstream_gene_variant,,ENST00000363304,;RP5-1155K23.4,upstream_gene_variant,,ENST00000450606,;	2223	149	142	SUCCESS
ANGPTL3	27329	.	GRCh37	1	63070352	63070352	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs775345711	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	169	76	237	0	ENST00000371129.3:c.1247A>C	p.Lys416Thr	p.K416T	ENST00000371129	NM_014495.3	416	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS622.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAAATATA	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000360170	.	7/7	.	.	.	.	.	.	.	.	rs775345711	7/7	PASS	ENST00000371129	Transcript	.	.	ENSG00000132855	491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	ANGL3_HUMAN	ANGPTL3	HGNC	B1ALJ0_HUMAN	.	UPI000003722C	SNV	ANGPTL3,missense_variant,p.Lys416Thr,ENST00000371129,;DOCK7,intron_variant,,ENST00000404627,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000340370,;AL138847.1,upstream_gene_variant,,ENST00000593719,;ANGPTL3,downstream_gene_variant,,ENST00000482591,;ANGPTL3,downstream_gene_variant,,ENST00000493994,;	1327	237	245	SUCCESS
SRSF11	9295	.	GRCh37	1	70687196	70687196	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	13	14	0	ENST00000370950.3:c.-25-99G>A		p.*9*	ENST00000370950				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS647.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGTAGCA	NONE	.	.	.	.	.	ENSP00000359988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370950	Transcript	.	.	ENSG00000116754	10782	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRS11_HUMAN	SRSF11	HGNC	Q6N079_HUMAN	.	UPI00001358C5	SNV	SRSF11,5_prime_UTR_variant,,ENST00000436161,;SRSF11,5_prime_UTR_variant,,ENST00000395136,;SRSF11,intron_variant,,ENST00000454435,;SRSF11,intron_variant,,ENST00000405432,;SRSF11,intron_variant,,ENST00000370951,;SRSF11,intron_variant,,ENST00000370950,;RP4-677H15.4,upstream_gene_variant,,ENST00000422107,;SRSF11,non_coding_transcript_exon_variant,,ENST00000469170,;SRSF11,intron_variant,,ENST00000463877,;SRSF11,upstream_gene_variant,,ENST00000486667,;SRSF11,5_prime_UTR_variant,,ENST00000473950,;SRSF11,intron_variant,,ENST00000475204,;	.	14	19	SUCCESS
SPATA1	100505741	.	GRCh37	1	84982006	84982006	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	84	1	ENST00000263717.5:n.229T>C		p.*77*	ENST00000263717				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|SOMATICSNIPER|VARSCANS	.	AAAATTCCAAT	NONE	.	.	.	.	.	.	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000263717	Transcript	.	.	ENSG00000122432	14682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SPATA1	HGNC	.	.	.	SNV	SPATA1,non_coding_transcript_exon_variant,,ENST00000370638,;SPATA1,non_coding_transcript_exon_variant,,ENST00000431031,;SPATA1,non_coding_transcript_exon_variant,,ENST00000490879,;SPATA1,upstream_gene_variant,,ENST00000485121,;SPATA1,non_coding_transcript_exon_variant,,ENST00000263717,;SPATA1,upstream_gene_variant,,ENST00000554297,;	229	85	111	SUCCESS
SPATA1	100505741	.	GRCh37	1	84982044	84982044	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	36	126	0	ENST00000263717.5:n.267T>C		p.*89*	ENST00000263717				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATATGTCAC	NONE	.	.	.	.	.	.	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000263717	Transcript	.	.	ENSG00000122432	14682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA1	HGNC	.	.	.	SNV	SPATA1,non_coding_transcript_exon_variant,,ENST00000370638,;SPATA1,non_coding_transcript_exon_variant,,ENST00000431031,;SPATA1,non_coding_transcript_exon_variant,,ENST00000490879,;SPATA1,upstream_gene_variant,,ENST00000485121,;SPATA1,non_coding_transcript_exon_variant,,ENST00000554297,;SPATA1,non_coding_transcript_exon_variant,,ENST00000263717,;	267	126	148	SUCCESS
GBP3	2635	.	GRCh37	1	89480301	89480301	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	125	209	0	ENST00000370481.4:c.357C>A	p.Ala119=	p.A119=	ENST00000370481	NM_018284.2	119	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS717.2	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACGGCCAG	NONE	.	.	PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF31,hmmpanther:PTHR10751,Pfam_domain:PF02263,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000359512	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000370481	Transcript	.	.	ENSG00000117226	4184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBP3_HUMAN	GBP3	HGNC	F6X827_HUMAN,H3BPH2_HUMAN,F6SPX6_HUMAN	.	UPI0000204D81	SNV	GBP3,synonymous_variant,p.%3D,ENST00000370481,;GBP3,synonymous_variant,p.%3D,ENST00000564665,;GBP3,upstream_gene_variant,,ENST00000461384,;GBP3,upstream_gene_variant,,ENST00000445969,;GBP3,downstream_gene_variant,,ENST00000475853,;GBP3,synonymous_variant,p.%3D,ENST00000489444,;GBP3,synonymous_variant,p.%3D,ENST00000235878,;GBP3,3_prime_UTR_variant,,ENST00000493594,;GBP3,non_coding_transcript_exon_variant,,ENST00000370482,;GBP3,downstream_gene_variant,,ENST00000568006,;	578	209	267	SUCCESS
NOP56	10528	.	GRCh37	20	2633966	2633966	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759607127	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	37	269	0	ENST00000329276.5:c.135C>G	p.Ile45Met	p.I45M	ENST00000329276	NM_006392.3	45	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS13030.1	135	RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCGTTCG	NONE	byFrequency	.	hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894,Pfam_domain:PF08156	.	.	ENSP00000370589	.	3/12	.	.	.	.	.	.	.	.	rs759607127	3/12	PASS	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.173)	.	tolerated(0.84)	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,missense_variant,p.Ile45Met,ENST00000329276,;NOP56,missense_variant,p.Ile45Met,ENST00000445139,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORD86,upstream_gene_variant,,ENST00000391196,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD110,upstream_gene_variant,,ENST00000408189,;SNORD56,upstream_gene_variant,,ENST00000413522,;SNORA51,upstream_gene_variant,,ENST00000606420,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;NOP56,non_coding_transcript_exon_variant,,ENST00000470143,;NOP56,upstream_gene_variant,,ENST00000496775,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000480992,;NOP56,upstream_gene_variant,,ENST00000490753,;NOP56,upstream_gene_variant,,ENST00000480447,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000492135,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,upstream_gene_variant,,ENST00000467196,;	651	269	231	SUCCESS
FAM83C	128876	.	GRCh37	20	33875240	33875240	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375816362	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	94	0	ENST00000374408.3:c.1342C>T	p.Arg448Cys	p.R448C	ENST00000374408	NM_178468.5	448	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS13251.1	1342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGAGGAA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3	A:0	.	ENSP00000363529	A:0	4/4	.	.	.	.	.	.	.	.	rs375816362	4/4	PASS	ENST00000374408	Transcript	.	A:0.0002	ENSG00000125998	16121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	A:0.001	tolerated_low_confidence(0.26)	.	FA83C_HUMAN	FAM83C	HGNC	.	.	UPI0000072DC0	SNV	FAM83C,missense_variant,p.Arg448Cys,ENST00000374408,;EIF6,upstream_gene_variant,,ENST00000456600,;EIF6,upstream_gene_variant,,ENST00000374436,;EIF6,upstream_gene_variant,,ENST00000374450,;EIF6,upstream_gene_variant,,ENST00000374443,;FAM83C-AS1,downstream_gene_variant,,ENST00000429167,;EIF6,upstream_gene_variant,,ENST00000462894,;EIF6,upstream_gene_variant,,ENST00000447927,;EIF6,upstream_gene_variant,,ENST00000440766,;EIF6,upstream_gene_variant,,ENST00000415116,;	1439	94	79	SUCCESS
DLGAP4	22839	.	GRCh37	20	35125206	35125206	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	52	161	0	ENST00000339266.5:c.1747G>C	p.Glu583Gln	p.E583Q	ENST00000339266		583	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS13274.1	1747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTGAGTCT	NONE	.	.	hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353	.	.	ENSP00000363023	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000373913	Transcript	.	.	ENSG00000080845	24476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DLGP4_HUMAN	DLGAP4	HGNC	.	.	UPI000013D34B	SNV	DLGAP4,missense_variant,p.Glu583Gln,ENST00000401952,;DLGAP4,missense_variant,p.Glu583Gln,ENST00000339266,;DLGAP4,missense_variant,p.Glu583Gln,ENST00000373913,;DLGAP4,missense_variant,p.Glu583Gln,ENST00000373907,;DLGAP4,missense_variant,p.Glu44Gln,ENST00000340491,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000491207,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000475894,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000482872,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000482037,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000495241,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000479220,;DLGAP4,upstream_gene_variant,,ENST00000479951,;DLGAP4,upstream_gene_variant,,ENST00000497862,;DLGAP4,5_prime_UTR_variant,,ENST00000489701,;DLGAP4,upstream_gene_variant,,ENST00000478910,;	2227	161	155	SUCCESS
KIAA1755	85449	.	GRCh37	20	36848153	36848153	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	77	0	ENST00000279024.4:c.2435C>T	p.Ala812Val	p.A812V	ENST00000279024	NM_001029864.1	812	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33467.1	2435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGGCTGCA	NONE	.	.	hmmpanther:PTHR22826:SF114,hmmpanther:PTHR22826	.	.	ENSP00000279024	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000279024	Transcript	.	.	ENSG00000149633	29372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	K1755_HUMAN	KIAA1755	HGNC	.	.	UPI000041AADF	SNV	KIAA1755,missense_variant,p.Ala111Val,ENST00000435901,;KIAA1755,missense_variant,p.Ala812Val,ENST00000279024,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000484362,;KIAA1755,upstream_gene_variant,,ENST00000460881,;KIAA1755,upstream_gene_variant,,ENST00000487506,;	2707	77	86	SUCCESS
C21orf91	54149	.	GRCh37	21	19168929	19168942	+	frameshift_variant	Frame_Shift_Del	DEL	TCTGGACATTAGCC	TCTGGACATTAGCC	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	TCTGGACATTAGCC	TCTGGACATTAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	184	47	245	0	ENST00000284881.4:c.621_634del	p.Glu207AspfsTer18	p.E207Dfs*18	ENST00000284881	NM_001100420.1	207	gaGGCTAATGTCCAGAcc/gacc	0	.	.	.	.	.	-	EANVQT/DX	protein_coding	YES	CCDS42907.1	621-634	INDELOCATOR|VARSCANI	.	GCTGGGTCTGGACATTAGCCTCTGG	NONE	.	.	hmmpanther:PTHR15961,Pfam_domain:PF06937	.	.	ENSP00000284881	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000284881	Transcript	.	.	ENSG00000154642	16459	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EURL_HUMAN	C21orf91	HGNC	Q68DA1_HUMAN,E7ETB0_HUMAN	.	UPI000004A0E1	deletion	C21orf91,frameshift_variant,p.Glu207AspfsTer18,ENST00000405964,;C21orf91,frameshift_variant,p.Glu207AspfsTer18,ENST00000284881,;C21orf91,frameshift_variant,p.Glu207AspfsTer18,ENST00000400559,;C21orf91,frameshift_variant,p.Glu207AspfsTer14,ENST00000400558,;C21orf91-OT1,upstream_gene_variant,,ENST00000430401,;C21orf91-OT1,upstream_gene_variant,,ENST00000439392,;C21orf91-OT1,upstream_gene_variant,,ENST00000430815,;AL109761.5,intron_variant,,ENST00000428689,;C21orf91,downstream_gene_variant,,ENST00000493464,;	712-725	245	231	SUCCESS
SON	6651	.	GRCh37	21	34947895	34947895	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	61	0	ENST00000356577.4:c.7034-7T>G		p.X2345_splice	ENST00000356577	NM_138927.2	2345		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13629.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTTTAAA	NONE	.	.	.	.	.	ENSP00000348984	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356577	Transcript	.	.	ENSG00000159140	11183	.	.	LOW	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SON_HUMAN	SON	HGNC	.	.	UPI0000140BFD	SNV	SON,splice_region_variant,,ENST00000436227,;SON,splice_region_variant,,ENST00000381692,;SON,splice_region_variant,,ENST00000290239,;SON,splice_region_variant,,ENST00000356577,;DONSON,3_prime_UTR_variant,,ENST00000303113,;DONSON,downstream_gene_variant,,ENST00000432378,;DONSON,downstream_gene_variant,,ENST00000440810,;DONSON,downstream_gene_variant,,ENST00000303071,;DONSON,downstream_gene_variant,,ENST00000453626,;DONSON,downstream_gene_variant,,ENST00000437395,;AP000304.1,upstream_gene_variant,,ENST00000595468,;SON,splice_region_variant,,ENST00000473102,;SON,splice_region_variant,,ENST00000470533,;SON,splice_region_variant,,ENST00000467616,;SON,splice_region_variant,,ENST00000484294,;SON,splice_region_variant,,ENST00000478183,;SON,splice_region_variant,,ENST00000455528,;SON,splice_region_variant,,ENST00000465834,;SON,splice_region_variant,,ENST00000491794,;SON,splice_region_variant,,ENST00000477419,;SON,splice_region_variant,,ENST00000457208,;DONSON,intron_variant,,ENST00000439593,;DONSON,downstream_gene_variant,,ENST00000457359,;DONSON,downstream_gene_variant,,ENST00000442660,;DONSON,downstream_gene_variant,,ENST00000417871,;DONSON,downstream_gene_variant,,ENST00000444517,;DONSON,downstream_gene_variant,,ENST00000460557,;	.	61	66	SUCCESS
SIM2	6493	.	GRCh37	21	38117328	38117328	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	108	0	ENST00000290399.6:c.1467C>T	p.Cys489=	p.C489=	ENST00000290399	NM_005069.3	489	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS13646.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCCAGTG	NONE	.	.	PROSITE_profiles:PS51302,hmmpanther:PTHR23043:SF19,hmmpanther:PTHR23043,Pfam_domain:PF06621	.	.	ENSP00000290399	.	10/11	.	.	.	.	.	.	.	.	COSM3963957,COSM3963958	10/11	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,synonymous_variant,p.%3D,ENST00000431229,;SIM2,synonymous_variant,p.%3D,ENST00000430056,;SIM2,synonymous_variant,p.%3D,ENST00000290399,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	2080	108	119	SUCCESS
KCNJ15	3772	.	GRCh37	21	39671772	39671772	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	56	0	ENST00000328656.4:c.589A>G	p.Ile197Val	p.I197V	ENST00000328656	NM_002243.4	197	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13656.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGATTCAG	NONE	.	.	hmmpanther:PTHR11767:SF20,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000331698	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328656	Transcript	.	.	ENSG00000157551	6261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.24)	.	IRK15_HUMAN	KCNJ15	HGNC	F8VX74_HUMAN,F8VW46_HUMAN,E7EWV2_HUMAN,E7EPG3_HUMAN,C9JTX1_HUMAN,A8MVK1_HUMAN,A8MTZ5_HUMAN	.	UPI000006E337	SNV	KCNJ15,missense_variant,p.Ile197Val,ENST00000328656,;KCNJ15,missense_variant,p.Ile197Val,ENST00000398930,;KCNJ15,missense_variant,p.Ile197Val,ENST00000438657,;KCNJ15,missense_variant,p.Ile197Val,ENST00000398938,;KCNJ15,missense_variant,p.Ile197Val,ENST00000398934,;KCNJ15,missense_variant,p.Ile197Val,ENST00000398932,;KCNJ15,downstream_gene_variant,,ENST00000398928,;KCNJ15,downstream_gene_variant,,ENST00000398927,;KCNJ15,downstream_gene_variant,,ENST00000398925,;KCNJ15,downstream_gene_variant,,ENST00000549805,;KCNJ15,downstream_gene_variant,,ENST00000417042,;KCNJ15,downstream_gene_variant,,ENST00000548700,;KCNJ15,downstream_gene_variant,,ENST00000419868,;KCNJ15,downstream_gene_variant,,ENST00000549932,;KCNJ15,downstream_gene_variant,,ENST00000547595,;KCNJ15,downstream_gene_variant,,ENST00000549158,;KCNJ15,downstream_gene_variant,,ENST00000547341,;KCNJ15,downstream_gene_variant,,ENST00000551422,;KCNJ15,downstream_gene_variant,,ENST00000443341,;	892	56	61	SUCCESS
IGSF5	150084	.	GRCh37	21	41160116	41160116	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	9	165	0	ENST00000380588.4:c.956+1G>A		p.X319_splice	ENST00000380588	NM_001080444.1	319		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33562.1	.	MUTECT|MUSE	.	CAAAAGTAAGT	NONE	.	.	.	.	.	ENSP00000369962	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380588	Transcript	.	.	ENSG00000183067	5952	.	.	HIGH	6/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IGSF5_HUMAN	IGSF5	HGNC	.	.	UPI0000198970	SNV	IGSF5,splice_donor_variant,,ENST00000380588,;IGSF5,downstream_gene_variant,,ENST00000479378,;IGSF5,upstream_gene_variant,,ENST00000459922,;	.	165	171	SUCCESS
DNMT3L	29947	.	GRCh37	21	45670830	45670830	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	84	0	ENST00000270172.3:c.772T>C	p.Trp258Arg	p.W258R	ENST00000270172	NM_013369.3	258	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS13705.1	772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACCAGCCTG	NONE	.	.	hmmpanther:PTHR23068:SF5,hmmpanther:PTHR23068	.	.	ENSP00000270172	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000270172	Transcript	.	.	ENSG00000142182	2980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.94)	.	DNM3L_HUMAN	DNMT3L	HGNC	.	.	UPI00001294C2	SNV	DNMT3L,missense_variant,p.Trp243Arg,ENST00000431166,;DNMT3L,missense_variant,p.Trp258Arg,ENST00000418993,;DNMT3L,missense_variant,p.Trp258Arg,ENST00000270172,;DNMT3L,missense_variant,p.Trp53Arg,ENST00000436357,;AP001059.5,splice_region_variant,,ENST00000442785,;	1256	84	89	SUCCESS
SPECC1L	23384	.	GRCh37	22	24718668	24718668	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs200752862	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	65	0	ENST00000314328.9:c.1720A>G	p.Ile574Val	p.I574V	ENST00000314328	NM_015330.4	574	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33619.1	1720	RADIA|MUTECT|MUSE	.	ACCAGATAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167	.	.	ENSP00000325785	.	5/17	.	.	.	.	.	.	.	.	rs200752862	5/17	PASS	ENST00000314328	Transcript	.	.	ENSG00000100014	29022	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.48)	.	CYTSA_HUMAN	SPECC1L	HGNC	C9JLY8_HUMAN,C9J8U1_HUMAN	.	UPI00001B64E9	SNV	SPECC1L,missense_variant,p.Ile574Val,ENST00000541492,;SPECC1L,missense_variant,p.Ile574Val,ENST00000314328,;SPECC1L,missense_variant,p.Ile574Val,ENST00000421374,;SPECC1L,missense_variant,p.Ile574Val,ENST00000437398,;SPECC1L,downstream_gene_variant,,ENST00000440893,;SPECC1L,intron_variant,,ENST00000416735,;SPECC1L-ADORA2A,missense_variant,p.Ile574Val,ENST00000358654,;	2005	65	73	SUCCESS
SPECC1L	23384	.	GRCh37	22	24718674	24718674	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs767691549	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	63	0	ENST00000314328.9:c.1726A>C	p.Met576Leu	p.M576L	ENST00000314328	NM_015330.4	576	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS33619.1	1726	RADIA|MUTECT|MUSE	.	TAGAGATGAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167	.	.	ENSP00000325785	.	5/17	.	.	.	.	.	.	.	.	rs767691549	5/17	PASS	ENST00000314328	Transcript	.	.	ENSG00000100014	29022	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	CYTSA_HUMAN	SPECC1L	HGNC	C9JLY8_HUMAN,C9J8U1_HUMAN	.	UPI00001B64E9	SNV	SPECC1L,missense_variant,p.Met576Leu,ENST00000541492,;SPECC1L,missense_variant,p.Met576Leu,ENST00000314328,;SPECC1L,missense_variant,p.Met576Leu,ENST00000421374,;SPECC1L,missense_variant,p.Met576Leu,ENST00000437398,;SPECC1L,downstream_gene_variant,,ENST00000440893,;SPECC1L,intron_variant,,ENST00000416735,;SPECC1L-ADORA2A,missense_variant,p.Met576Leu,ENST00000358654,;	2011	63	76	SUCCESS
ADRBK2	0	.	GRCh37	22	26117279	26117279	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	100	246	0	ENST00000324198.6:c.1820T>C	p.Leu607Pro	p.L607P	ENST00000324198	NM_005160.3	607	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS13832.1	1820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTCTCTG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR24355:SF17,hmmpanther:PTHR24355,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000317578	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000324198	Transcript	.	.	ENSG00000100077	290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	tolerated_low_confidence(0.27)	.	ARBK2_HUMAN	ADRBK2	HGNC	Q8N433_HUMAN	.	UPI0000050EDB	SNV	ADRBK2,missense_variant,p.Leu607Pro,ENST00000324198,;	2012	246	296	SUCCESS
AFF3	3899	.	GRCh37	2	100210640	100210640	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	70	256	0	ENST00000409236.2:c.1483C>A	p.Gln495Lys	p.Q495K	ENST00000409236		495	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS33258.1	1558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTGATTGC	NONE	.	.	hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110	.	.	ENSP00000348793	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000356421	Transcript	.	.	ENSG00000144218	6473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.22)	.	AFF3_HUMAN	AFF3	HGNC	.	.	UPI000041098C	SNV	AFF3,missense_variant,p.Gln520Lys,ENST00000409579,;AFF3,missense_variant,p.Gln520Lys,ENST00000356421,;AFF3,missense_variant,p.Gln495Lys,ENST00000317233,;AFF3,missense_variant,p.Gln495Lys,ENST00000409236,;	1702	256	225	SUCCESS
ZC3H8	84524	.	GRCh37	2	112989510	112989510	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	56	0	ENST00000272570.5:c.748A>C	p.Lys250Gln	p.K250Q	ENST00000272570	NM_032494.2	250	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS46392.1	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTTACAAG	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF21,SMART_domains:SM00356,Superfamily_domains:SSF90229	.	.	ENSP00000386488	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000409573	Transcript	.	.	ENSG00000144161	30941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0.01)	.	ZC3H8_HUMAN	ZC3H8	HGNC	Q53RD8_HUMAN,Q53QC9_HUMAN	.	UPI00000467EA	SNV	ZC3H8,missense_variant,p.Lys250Gln,ENST00000272570,;ZC3H8,missense_variant,p.Lys250Gln,ENST00000409573,;ZC3H8,downstream_gene_variant,,ENST00000474234,;ZC3H8,downstream_gene_variant,,ENST00000464305,;ZC3H8,upstream_gene_variant,,ENST00000476902,;ZC3H8,downstream_gene_variant,,ENST00000466259,;	878	56	65	SUCCESS
CCDC74B	91409	.	GRCh37	2	130900411	130900411	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	62	175	0	ENST00000310463.6:c.295+431G>A		p.*99*	ENST00000310463	NM_207310.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2155.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCCTGGA	NONE	.	.	.	.	.	ENSP00000308873	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310463	Transcript	.	.	ENSG00000152076	25267	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,missense_variant,p.Gly49Arg,ENST00000392984,;CCDC74B,3_prime_UTR_variant,,ENST00000409234,;CCDC74B,intron_variant,,ENST00000457413,;CCDC74B,intron_variant,,ENST00000409943,;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,intron_variant,,ENST00000310463,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,intron_variant,,ENST00000434929,;CCDC74B,intron_variant,,ENST00000423263,;CCDC74B,upstream_gene_variant,,ENST00000498526,;	.	175	155	SUCCESS
COBLL1	22837	.	GRCh37	2	165542496	165542496	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1177928991	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	86	0	ENST00000392717.2:c.3575T>G	p.Leu1192Arg	p.L1192R	ENST00000392717		1192	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS2223.2	3461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGAGTCTT	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Leu1116Arg,ENST00000375458,;COBLL1,missense_variant,p.Leu1154Arg,ENST00000409184,;COBLL1,missense_variant,p.Leu1154Arg,ENST00000342193,;COBLL1,missense_variant,p.Leu1192Arg,ENST00000392717,;COBLL1,missense_variant,p.Leu1221Arg,ENST00000194871,;SNORA70F,downstream_gene_variant,,ENST00000384142,;COBLL1,intron_variant,,ENST00000495084,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;AC019181.3,downstream_gene_variant,,ENST00000417151,;	3677	86	82	SUCCESS
LRP2	4036	.	GRCh37	2	170033099	170033110	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	CTAGTGGAAAAG	CTAGTGGAAAAG	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	CTAGTGGAAAAG	CTAGTGGAAAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	84	0	ENST00000263816.3:c.10394-12_10394-1del		p.X3465_splice	ENST00000263816	NM_004525.2	3465		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2232.1	.	INDELOCATOR*|PINDEL	.	TGCTCACTAGTGGAAAAGGAAGA	NONE	.	.	.	.	.	ENSP00000263816	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	HIGH	53/78	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	deletion	LRP2,splice_acceptor_variant,,ENST00000263816,;LRP2,downstream_gene_variant,,ENST00000461418,;	.	84	59	SUCCESS
GAD1	2571	.	GRCh37	2	171713607	171713607	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	62	0	ENST00000358196.3:c.1493A>G	p.Glu498Gly	p.E498G	ENST00000358196	NM_000817.2	498	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS2239.1	1493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGAAGAAT	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF57,Pfam_domain:PF00282,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	.	.	ENSP00000350928	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000358196	Transcript	.	.	ENSG00000128683	4092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious(0.01)	.	DCE1_HUMAN	GAD1	HGNC	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN	.	UPI000002D729	SNV	GAD1,missense_variant,p.Glu498Gly,ENST00000358196,;GAD1,3_prime_UTR_variant,,ENST00000414527,;GAD1,3_prime_UTR_variant,,ENST00000493875,;GAD1,non_coding_transcript_exon_variant,,ENST00000488724,;GAD1,non_coding_transcript_exon_variant,,ENST00000478562,;	2043	62	76	SUCCESS
SP3	6670	.	GRCh37	2	174820648	174820648	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	59	189	0	ENST00000310015.6:c.592A>C	p.Asn198His	p.N198H	ENST00000310015	NM_001172712.1	198	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS2254.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATTTATAC	NONE	.	.	hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3	.	.	ENSP00000310301	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000310015	Transcript	.	.	ENSG00000172845	11208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	tolerated(0.14)	.	SP3_HUMAN	SP3	HGNC	Q68DP2_HUMAN,H0Y6K5_HUMAN	.	UPI000019B3E0	SNV	SP3,missense_variant,p.Asn155His,ENST00000416195,;SP3,missense_variant,p.Asn130His,ENST00000418194,;SP3,missense_variant,p.Asn145His,ENST00000455789,;SP3,missense_variant,p.Asn198His,ENST00000310015,;SP3,non_coding_transcript_exon_variant,,ENST00000462904,;SP3,downstream_gene_variant,,ENST00000483084,;SP3,downstream_gene_variant,,ENST00000490182,;	1123	189	180	SUCCESS
GTF3C3	9330	.	GRCh37	2	197643775	197643775	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1454104763	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	41	160	0	ENST00000263956.3:c.1235T>C	p.Leu412Pro	p.L412P	ENST00000263956	NM_012086.4	412	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2316.1	1235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTAGTGTT	NONE	.	.	hmmpanther:PTHR23082	.	.	ENSP00000263956	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000263956	Transcript	.	.	ENSG00000119041	4666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	TF3C3_HUMAN	GTF3C3	HGNC	.	.	UPI0000070C01	SNV	GTF3C3,missense_variant,p.Leu412Pro,ENST00000263956,;GTF3C3,missense_variant,p.Leu97Pro,ENST00000448087,;GTF3C3,upstream_gene_variant,,ENST00000435252,;GTF3C3,upstream_gene_variant,,ENST00000416690,;GTF3C3,downstream_gene_variant,,ENST00000409364,;GTF3C3,non_coding_transcript_exon_variant,,ENST00000466862,;	1325	160	135	SUCCESS
MPP4	58538	.	GRCh37	2	202549803	202549803	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	79	0	ENST00000409474.3:c.558G>A	p.Gly186=	p.G186=	ENST00000409474	NM_033066.2	186	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46491.1	558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCCACC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000387278	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000409474	Transcript	.	.	ENSG00000082126	13680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP4_HUMAN	MPP4	HGNC	.	.	UPI000050A341	SNV	MPP4,synonymous_variant,p.%3D,ENST00000315506,;MPP4,synonymous_variant,p.%3D,ENST00000396886,;MPP4,synonymous_variant,p.%3D,ENST00000428900,;MPP4,synonymous_variant,p.%3D,ENST00000409474,;MPP4,synonymous_variant,p.%3D,ENST00000359962,;MPP4,synonymous_variant,p.%3D,ENST00000447335,;MPP4,synonymous_variant,p.%3D,ENST00000409143,;MPP4,downstream_gene_variant,,ENST00000602867,;MPP4,synonymous_variant,p.%3D,ENST00000409818,;MPP4,non_coding_transcript_exon_variant,,ENST00000486212,;MPP4,non_coding_transcript_exon_variant,,ENST00000483841,;	766	79	105	SUCCESS
C2orf80	389073	.	GRCh37	2	209051745	209051745	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs572361837	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	22	80	0	ENST00000341287.4:c.-35C>T		p.*12*	ENST00000341287	NM_001099334.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS42809.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGCTAAC	NONE	by1000G	.	.	A:0	.	ENSP00000343171	A:0	2/9	.	.	.	.	.	.	.	.	rs572361837	2/9	PASS	ENST00000341287	Transcript	.	A:0.0002	ENSG00000188674	34352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CB080_HUMAN	C2orf80	HGNC	C9JTX0_HUMAN,C9JAS9_HUMAN	.	UPI00001D7E1A	SNV	C2orf80,5_prime_UTR_variant,,ENST00000449053,;C2orf80,5_prime_UTR_variant,,ENST00000341287,;C2orf80,intron_variant,,ENST00000451346,;C2orf80,upstream_gene_variant,,ENST00000428015,;C2orf80,upstream_gene_variant,,ENST00000453017,;C2orf80,upstream_gene_variant,,ENST00000423952,;	162	80	90	SUCCESS
PECR	55825	.	GRCh37	2	216923626	216923626	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	59	188	0	ENST00000265322.7:c.498A>T	p.Pro166=	p.P166=	ENST00000265322	NM_018441.5	166	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33375.1	498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAATGGAAA	NONE	.	.	hmmpanther:PTHR24317,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000265322	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000265322	Transcript	.	.	ENSG00000115425	18281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PECR_HUMAN	PECR	HGNC	.	.	UPI000004C794	SNV	PECR,synonymous_variant,p.%3D,ENST00000265322,;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,upstream_gene_variant,,ENST00000464737,;PECR,downstream_gene_variant,,ENST00000487318,;PECR,non_coding_transcript_exon_variant,,ENST00000461330,;PECR,intron_variant,,ENST00000442122,;	573	188	173	SUCCESS
CHPF	79586	.	GRCh37	2	220406586	220406586	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	35	60	0	ENST00000243776.6:c.640G>A	p.Gly214Ser	p.G214S	ENST00000243776	NM_024536.5	214	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2443.1	640	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCAGTTA	NONE	.	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369	.	.	ENSP00000243776	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.4)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Gly214Ser,ENST00000243776,;CHPF,missense_variant,p.Gly214Ser,ENST00000373891,;CHPF,missense_variant,p.Gly52Ser,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	889	60	108	SUCCESS
UGT1A9	54600	.	GRCh37	2	234581246	234581246	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	106	390	0	ENST00000354728.4:c.666T>A	p.Arg222=	p.R222=	ENST00000354728		222	cgT/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2505.1	666	RADIA|MUTECT|MUSE	.	CACCGTTTTTT	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000346768	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000354728	Transcript	.	.	ENSG00000241119	12541	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD19_HUMAN	UGT1A9	HGNC	Q5DSZ5_HUMAN,Q53E75_HUMAN,A9UKF4_HUMAN	.	UPI0000044213	SNV	UGT1A8,synonymous_variant,p.%3D,ENST00000609637,;UGT1A9,synonymous_variant,p.%3D,ENST00000354728,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;	748	390	314	SUCCESS
UGT1A9	54600	.	GRCh37	2	234581248	234581248	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	104	386	0	ENST00000354728.4:c.668T>A	p.Phe223Tyr	p.F223Y	ENST00000354728		223	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS2505.1	668	RADIA|MUTECT|MUSE	.	CCGTTTTTTCA	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000346768	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000354728	Transcript	.	.	ENSG00000241119	12541	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.038)	.	tolerated(0.26)	.	UD19_HUMAN	UGT1A9	HGNC	Q5DSZ5_HUMAN,Q53E75_HUMAN,A9UKF4_HUMAN	.	UPI0000044213	SNV	UGT1A8,missense_variant,p.Phe223Tyr,ENST00000609637,;UGT1A9,missense_variant,p.Phe223Tyr,ENST00000354728,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;	750	386	311	SUCCESS
FAM179A	0	.	GRCh37	2	29217596	29217596	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	56	0	ENST00000379558.4:c.-105G>T		p.*35*	ENST00000379558	NM_199280.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1769.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGGATGT	NONE	.	.	.	.	.	ENSP00000368876	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,5_prime_UTR_variant,,ENST00000401723,;FAM179A,5_prime_UTR_variant,,ENST00000420297,;FAM179A,5_prime_UTR_variant,,ENST00000403861,;FAM179A,5_prime_UTR_variant,,ENST00000379558,;	247	56	55	SUCCESS
BIRC6	57448	.	GRCh37	2	32654298	32654298	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	36	0	ENST00000421745.2:c.2957A>C	p.Lys986Thr	p.K986T	ENST00000421745	NM_016252.3	986	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS33175.2	2957	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAAAGGAA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	11/74	.	.	.	.	.	.	.	.	.	11/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Lys986Thr,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000444173,;	3091	36	32	SUCCESS
SRBD1	55133	.	GRCh37	2	45812829	45812829	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	124	0	ENST00000263736.4:c.733A>C	p.Ile245Leu	p.I245L	ENST00000263736	NM_018079.4	245	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS1823.1	733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATGAAGG	NONE	.	.	hmmpanther:PTHR10724:SF1,hmmpanther:PTHR10724,Pfam_domain:PF09371,Gene3D:3bzcA01,Superfamily_domains:0054854	.	.	ENSP00000263736	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000263736	Transcript	.	.	ENSG00000068784	25521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	deleterious(0.01)	.	SRBD1_HUMAN	SRBD1	HGNC	B7Z6X7_HUMAN	.	UPI000004CC06	SNV	SRBD1,missense_variant,p.Ile245Leu,ENST00000263736,;	796	124	94	SUCCESS
ZNF638	27332	.	GRCh37	2	71577282	71577282	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	52	0	ENST00000264447.4:c.1198G>A	p.Asp400Asn	p.D400N	ENST00000264447	NM_001014972.2	400	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1917.1	1198	MUTECT|MUSE	.	ATGCTGATGCC	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.584)	.	tolerated(0.09)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Asp400Asn,ENST00000409544,;ZNF638,missense_variant,p.Asp400Asn,ENST00000264447,;ZNF638,missense_variant,p.Asp400Asn,ENST00000377802,;ZNF638,missense_variant,p.Asp400Asn,ENST00000355812,;ZNF638,downstream_gene_variant,,ENST00000417778,;ZNF638,downstream_gene_variant,,ENST00000437658,;ZNF638,downstream_gene_variant,,ENST00000454122,;ZNF638,downstream_gene_variant,,ENST00000455226,;ZNF638,downstream_gene_variant,,ENST00000454278,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000466975,;ZNF638,intron_variant,,ENST00000464375,;ZNF638,intron_variant,,ENST00000466330,;ZNF638,intron_variant,,ENST00000494621,;ZNF638,intron_variant,,ENST00000475743,;ZNF638,downstream_gene_variant,,ENST00000487707,;	1828	52	73	SUCCESS
PHLDB2	90102	.	GRCh37	3	111632427	111632427	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	43	103	0	ENST00000393925.3:c.1599del	p.Phe533LeufsTer36	p.F533Lfs*36	ENST00000393925	NM_001134439.1	533	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS46886.1	1597	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTTCTTTACC	NONE	.	.	hmmpanther:PTHR12156:SF17,hmmpanther:PTHR12156	.	.	ENSP00000405405	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000431670	Transcript	.	.	ENSG00000144824	29573	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PHLB2_HUMAN	PHLDB2	HGNC	Q8NEI7_HUMAN,Q659D2_HUMAN	.	UPI0000457152	deletion	PHLDB2,frameshift_variant,p.Phe533LeufsTer36,ENST00000477695,;PHLDB2,frameshift_variant,p.Phe560LeufsTer36,ENST00000393923,;PHLDB2,frameshift_variant,p.Phe533LeufsTer36,ENST00000412622,;PHLDB2,frameshift_variant,p.Phe533LeufsTer36,ENST00000481953,;PHLDB2,frameshift_variant,p.Phe533LeufsTer36,ENST00000498699,;PHLDB2,frameshift_variant,p.Phe119LeufsTer36,ENST00000495180,;PHLDB2,frameshift_variant,p.Phe533LeufsTer36,ENST00000431670,;PHLDB2,frameshift_variant,p.Phe533LeufsTer36,ENST00000393925,;	2008	103	161	SUCCESS
SLC9C1	285335	.	GRCh37	3	111939985	111939985	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	153	0	ENST00000305815.5:c.1660A>T	p.Lys554Ter	p.K554*	ENST00000305815	NM_183061.1	554	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS33817.1	1660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCTCAC	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87	.	.	ENSP00000306627	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,stop_gained,p.Lys506Ter,ENST00000487372,;SLC9C1,stop_gained,p.Lys554Ter,ENST00000305815,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;	1913	153	135	SUCCESS
KPNA1	3836	.	GRCh37	3	122146558	122146558	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	52	0	ENST00000344337.6:c.1256T>C	p.Leu419Pro	p.L419P	ENST00000344337	NM_002264.3	419	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3013.1	1256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTAGGTAC	NONE	.	.	hmmpanther:PTHR23316:SF3,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371	.	.	ENSP00000343701	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000344337	Transcript	.	.	ENSG00000114030	6394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IMA5_HUMAN	KPNA1	HGNC	C9JYI4_HUMAN,C9JWD9_HUMAN,C9J4U1_HUMAN,B3KXZ2_HUMAN	.	UPI000013D524	SNV	KPNA1,missense_variant,p.Leu419Pro,ENST00000344337,;RP11-299J3.8,intron_variant,,ENST00000609469,;RP11-299J3.8,intron_variant,,ENST00000608346,;RP11-299J3.8,downstream_gene_variant,,ENST00000608756,;RP11-299J3.8,downstream_gene_variant,,ENST00000608015,;KPNA1,non_coding_transcript_exon_variant,,ENST00000470904,;KPNA1,non_coding_transcript_exon_variant,,ENST00000466923,;KPNA1,3_prime_UTR_variant,,ENST00000494339,;KPNA1,3_prime_UTR_variant,,ENST00000485027,;	1433	52	48	SUCCESS
KPNA1	3836	.	GRCh37	3	122186176	122186176	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	37	191	0	ENST00000344337.6:c.230T>A	p.Met77Lys	p.M77K	ENST00000344337	NM_002264.3	77	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS3013.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCATCTCC	NONE	.	.	hmmpanther:PTHR23316:SF3,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF01749,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371	.	.	ENSP00000343701	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000344337	Transcript	.	.	ENSG00000114030	6394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.91)	.	IMA5_HUMAN	KPNA1	HGNC	C9JYI4_HUMAN,C9JWD9_HUMAN,C9J4U1_HUMAN,B3KXZ2_HUMAN	.	UPI000013D524	SNV	KPNA1,missense_variant,p.Met77Lys,ENST00000493510,;KPNA1,missense_variant,p.Met77Lys,ENST00000344337,;KPNA1,missense_variant,p.Met77Lys,ENST00000476916,;KPNA1,missense_variant,p.Met77Lys,ENST00000482287,;KPNA1,missense_variant,p.Met77Lys,ENST00000465882,;KPNA1,upstream_gene_variant,,ENST00000464940,;KPNA1,missense_variant,p.Met77Lys,ENST00000485027,;KPNA1,missense_variant,p.Met77Lys,ENST00000494339,;	407	192	183	SUCCESS
C3orf79	0	.	GRCh37	3	153202472	153202472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	141	0	ENST00000446603.2:c.127T>C	p.Tyr43His	p.Y43H	ENST00000446603	NM_001101337.1	43	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS46937.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTTACAAG	BUFFER|p.L42I|c.124C>A|3	.	.	.	.	.	ENSP00000389475	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000446603	Transcript	.	.	ENSG00000237787	37259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated_low_confidence(0.27)	.	CC079_HUMAN	C3orf79	HGNC	.	.	UPI00001410DF	SNV	C3orf79,missense_variant,p.Tyr43His,ENST00000446603,;RP11-23D24.2,intron_variant,,ENST00000493214,;	189	141	128	SUCCESS
SLC2A2	6514	.	GRCh37	3	170723139	170723139	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769325995	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	59	197	0	ENST00000314251.3:c.898T>C	p.Tyr300His	p.Y300H	ENST00000314251	NM_001278659.1	300	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS3215.1	898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTAGCTGG	NONE	byFrequency	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473,Prints_domain:PR01191	.	.	ENSP00000323568	.	7/11	.	.	.	.	.	.	.	.	rs769325995	7/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.04)	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,missense_variant,p.Tyr300His,ENST00000314251,;SLC2A2,missense_variant,p.Tyr181His,ENST00000382808,;SLC2A2,downstream_gene_variant,,ENST00000461867,;SLC2A2,3_prime_UTR_variant,,ENST00000469787,;SLC2A2,3_prime_UTR_variant,,ENST00000497642,;SLC2A2,downstream_gene_variant,,ENST00000471379,;	978	197	178	SUCCESS
AP2M1	1173	.	GRCh37	3	183894699	183894699	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	25	0	ENST00000292807.5:c.-43-40A>G		p.*15*	ENST00000292807	NM_004068.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43177.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGATTCTG	NONE	.	.	.	.	.	ENSP00000292807	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292807	Transcript	.	.	ENSG00000161203	564	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2M1_HUMAN	AP2M1	HGNC	C9JJD3_HUMAN	.	UPI0000000DD8	SNV	AP2M1,5_prime_UTR_variant,,ENST00000439647,;AP2M1,intron_variant,,ENST00000455925,;AP2M1,intron_variant,,ENST00000411763,;AP2M1,intron_variant,,ENST00000292807,;AP2M1,intron_variant,,ENST00000427072,;AP2M1,intron_variant,,ENST00000382456,;AP2M1,intron_variant,,ENST00000448139,;EIF2B5,intron_variant,,ENST00000444495,;AP2M1,upstream_gene_variant,,ENST00000431779,;DVL3,downstream_gene_variant,,ENST00000313143,;AP2M1,upstream_gene_variant,,ENST00000432591,;AP2M1,intron_variant,,ENST00000460862,;AP2M1,upstream_gene_variant,,ENST00000461733,;AP2M1,intron_variant,,ENST00000484469,;AP2M1,intron_variant,,ENST00000487958,;AP2M1,intron_variant,,ENST00000466598,;AP2M1,upstream_gene_variant,,ENST00000490151,;AP2M1,upstream_gene_variant,,ENST00000468048,;AP2M1,upstream_gene_variant,,ENST00000472560,;AP2M1,upstream_gene_variant,,ENST00000476434,;AP2M1,upstream_gene_variant,,ENST00000463935,;AP2M1,upstream_gene_variant,,ENST00000480260,;	.	25	23	SUCCESS
EIF4G1	1981	.	GRCh37	3	184040633	184040633	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	31	88	0	ENST00000346169.2:c.1820A>G	p.Glu607Gly	p.E607G	ENST00000346169	NM_198241.2	607	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS54687.1	1841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGAGGAGA	NONE	.	.	hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10	.	.	ENSP00000416255	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000424196	Transcript	.	.	ENSG00000114867	3296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	deleterious(0)	.	IF4G1_HUMAN	EIF4G1	HGNC	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN	.	UPI00015E0966	SNV	EIF4G1,missense_variant,p.Glu567Gly,ENST00000411531,;EIF4G1,missense_variant,p.Glu520Gly,ENST00000392537,;EIF4G1,missense_variant,p.Glu607Gly,ENST00000346169,;EIF4G1,missense_variant,p.Glu607Gly,ENST00000319274,;EIF4G1,missense_variant,p.Glu607Gly,ENST00000450424,;EIF4G1,missense_variant,p.Glu567Gly,ENST00000414031,;EIF4G1,missense_variant,p.Glu614Gly,ENST00000352767,;EIF4G1,missense_variant,p.Glu614Gly,ENST00000424196,;EIF4G1,missense_variant,p.Glu411Gly,ENST00000434061,;EIF4G1,missense_variant,p.Glu443Gly,ENST00000444861,;EIF4G1,missense_variant,p.Glu520Gly,ENST00000427845,;EIF4G1,missense_variant,p.Glu411Gly,ENST00000435046,;EIF4G1,missense_variant,p.Glu614Gly,ENST00000382330,;EIF4G1,missense_variant,p.Glu443Gly,ENST00000350481,;EIF4G1,missense_variant,p.Glu443Gly,ENST00000441154,;EIF4G1,missense_variant,p.Glu607Gly,ENST00000342981,;EIF4G1,missense_variant,p.Glu548Gly,ENST00000426123,;EIF4G1,missense_variant,p.Glu614Gly,ENST00000421110,;EIF2B5,intron_variant,,ENST00000444495,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000457456,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000428387,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000427141,;EIF4G1,downstream_gene_variant,,ENST00000444134,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000466311,;EIF4G1,upstream_gene_variant,,ENST00000482303,;EIF4G1,downstream_gene_variant,,ENST00000493299,;	2230	88	111	SUCCESS
BCL6	604	.	GRCh37	3	187449531	187449531	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs866452181	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	60	143	0	ENST00000232014.4:c.349G>T	p.Val117Phe	p.V117F	ENST00000232014	NM_001130845.1	117	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS3289.1	349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAACATGCT	NONE	.	.	hmmpanther:PTHR23228:SF88,hmmpanther:PTHR23228,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000384371	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000406870	Transcript	.	.	ENSG00000113916	1001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BCL6_HUMAN	BCL6	HGNC	C9JL16_HUMAN,C9JCS5_HUMAN	.	UPI000012682C	SNV	BCL6,missense_variant,p.Val117Phe,ENST00000232014,;BCL6,missense_variant,p.Val117Phe,ENST00000430339,;BCL6,missense_variant,p.Val117Phe,ENST00000450123,;BCL6,missense_variant,p.Val117Phe,ENST00000406870,;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,downstream_gene_variant,,ENST00000438077,;BCL6,downstream_gene_variant,,ENST00000496823,;BCL6,downstream_gene_variant,,ENST00000480458,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;	716	143	164	SUCCESS
CMTM8	152189	.	GRCh37	3	32280486	32280486	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754283434	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	77	175	0	ENST00000307526.3:c.22C>T	p.Arg8Cys	p.R8C	ENST00000307526	NM_178868.3	8	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS2652.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCCGCTCG	NONE	byFrequency	.	hmmpanther:PTHR22776:SF10,hmmpanther:PTHR22776	.	.	ENSP00000307741	.	1/4	.	.	.	.	.	.	.	.	rs754283434	1/4	PASS	ENST00000307526	Transcript	.	.	ENSG00000170293	19179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	tolerated(0.06)	.	CKLF8_HUMAN	CMTM8	HGNC	.	.	UPI000019745A	SNV	CMTM8,missense_variant,p.Arg8Cys,ENST00000307526,;CMTM8,missense_variant,p.Arg8Cys,ENST00000458535,;RP11-384L8.1,upstream_gene_variant,,ENST00000565519,;RP11-384L8.2,downstream_gene_variant,,ENST00000603159,;	316	175	186	SUCCESS
TRIM71	131405	.	GRCh37	3	32932714	32932714	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	68	0	ENST00000383763.5:c.2018A>G	p.Asp673Gly	p.D673G	ENST00000383763	NM_001039111.1	673	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS43060.1	2018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGACAATC	NONE	.	.	Superfamily_domains:SSF101898,Gene3D:2.120.10.30,Pfam_domain:PF01436,hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103,PROSITE_profiles:PS51125	.	.	ENSP00000373272	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000383763	Transcript	.	.	ENSG00000206557	32669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.01)	.	LIN41_HUMAN	TRIM71	HGNC	.	.	UPI000067CB89	SNV	TRIM71,missense_variant,p.Asp673Gly,ENST00000383763,;	2081	68	78	SUCCESS
ARPP21	10777	.	GRCh37	3	35763321	35763321	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	41	228	0	ENST00000187397.4:c.1220A>C	p.Lys407Thr	p.K407T	ENST00000187397	NM_016300.4	407	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS58823.1	1118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAAAGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15672:SF14,hmmpanther:PTHR15672	.	.	ENSP00000414351	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000458225	Transcript	.	.	ENSG00000172995	16968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.04)	.	ARP21_HUMAN	ARPP21	HGNC	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN	.	UPI0000209B3D	SNV	ARPP21,missense_variant,p.Lys353Thr,ENST00000337271,;ARPP21,missense_variant,p.Lys373Thr,ENST00000417925,;ARPP21,missense_variant,p.Lys373Thr,ENST00000458225,;ARPP21,missense_variant,p.Lys180Thr,ENST00000425289,;ARPP21,missense_variant,p.Lys407Thr,ENST00000187397,;ARPP21,missense_variant,p.Lys353Thr,ENST00000444190,;ARPP21,intron_variant,,ENST00000476327,;ARPP21,missense_variant,p.Lys65Thr,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,non_coding_transcript_exon_variant,,ENST00000481854,;ARPP21,downstream_gene_variant,,ENST00000446068,;	1343	228	188	SUCCESS
PLCD1	5333	.	GRCh37	3	38061825	38061825	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1000883362	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	115	0	ENST00000334661.4:c.53A>T	p.Asp18Val	p.D18V	ENST00000334661	NM_006225.3	18	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS46793.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATCCTCA	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF80,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000430344	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000463876	Transcript	.	.	ENSG00000187091	9060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	PLCD1_HUMAN	PLCD1	HGNC	.	.	UPI00003E2810	SNV	PLCD1,missense_variant,p.Asp39Val,ENST00000463876,;PLCD1,missense_variant,p.Asp18Val,ENST00000334661,;PLCD1,non_coding_transcript_exon_variant,,ENST00000473834,;PLCD1,upstream_gene_variant,,ENST00000479619,;PLCD1,non_coding_transcript_exon_variant,,ENST00000461445,;	470	115	92	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057519886	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	210	90	359	0	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	97	RADIA|MUTECT|MUSE	.	TGGACTCTGGA	SITE|p.S33P|c.97T>C|61,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32V|c.95A>T|41,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.D32E|c.96C>A|3,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5682,COSM5683,COSM27311	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	benign(0.423)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	377	359	300	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	87	345	0	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS2694.1	107	RADIA|MUTECT|MUSE	.	AATCCATTCTG	SITE|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5678,COSM27378	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.397)	.	deleterious(0.04)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	387	345	300	SUCCESS
ITPR1	3708	.	GRCh37	3	4776907	4776907	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1377176027	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	125	0	ENST00000354582.6:c.5368T>C	p.Cys1790Arg	p.C1790R	ENST00000354582		1790	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS54551.1	5368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGTGTCAC	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715	.	.	ENSP00000306253	.	43/61	.	.	.	.	.	.	.	.	.	43/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Cys1757Arg,ENST00000423119,;ITPR1,missense_variant,p.Cys1742Arg,ENST00000456211,;ITPR1,missense_variant,p.Cys1757Arg,ENST00000357086,;ITPR1,missense_variant,p.Cys1790Arg,ENST00000302640,;ITPR1,missense_variant,p.Cys1790Arg,ENST00000443694,;ITPR1,missense_variant,p.Cys1790Arg,ENST00000354582,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000487016,;ITPR1,downstream_gene_variant,,ENST00000494681,;	5718	125	93	SUCCESS
MANF	7873	.	GRCh37	3	51426503	51426503	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	85	0	ENST00000528157.1:c.532G>A	p.Ala178Thr	p.A178T	ENST00000528157	NM_006010.4	178	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46836.2	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGCACGG	NONE	.	.	Pfam_domain:PF10208,hmmpanther:PTHR12990,hmmpanther:PTHR12990:SF7	.	.	ENSP00000432799	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000528157	Transcript	.	.	ENSG00000145050	15461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.17)	.	MANF_HUMAN	MANF	HGNC	A8K878_HUMAN	.	UPI0000169E96	SNV	MANF,missense_variant,p.Ala178Thr,ENST00000528157,;DOCK3,downstream_gene_variant,,ENST00000266037,;RBM15B,upstream_gene_variant,,ENST00000323686,;MANF,non_coding_transcript_exon_variant,,ENST00000470900,;MANF,3_prime_UTR_variant,,ENST00000446668,;MANF,non_coding_transcript_exon_variant,,ENST00000482262,;	828	85	88	SUCCESS
ITIH1	3697	.	GRCh37	3	52823733	52823733	+	synonymous_variant	Silent	SNP	G	G	C	rs145442481	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	101	0	ENST00000273283.2:c.2184G>C	p.Thr728=	p.T728=	ENST00000273283	NM_002215.3	728	acG/acC	0	A:0	.	.	.	.	C	T	protein_coding	YES	CCDS2864.1	2184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACGTACTT	NONE	byCluster	.	Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106	.	A:0.0005	ENSP00000273283	.	19/22	.	.	.	.	.	.	.	.	rs145442481	19/22	PASS	ENST00000273283	Transcript	.	.	ENSG00000055957	6166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH1_HUMAN	ITIH1	HGNC	.	.	UPI000012DA1C	SNV	ITIH1,synonymous_variant,p.%3D,ENST00000537050,;ITIH1,synonymous_variant,p.%3D,ENST00000273283,;ITIH1,synonymous_variant,p.%3D,ENST00000428133,;ITIH1,synonymous_variant,p.%3D,ENST00000405128,;ITIH1,synonymous_variant,p.%3D,ENST00000540715,;ITIH1,3_prime_UTR_variant,,ENST00000542827,;ITIH1,3_prime_UTR_variant,,ENST00000484844,;ITIH1,non_coding_transcript_exon_variant,,ENST00000482836,;ITIH1,upstream_gene_variant,,ENST00000494705,;	2208	101	100	SUCCESS
FLNB	2317	.	GRCh37	3	58141694	58141694	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs541513836	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	69	0	ENST00000295956.4:c.6780C>G	p.Tyr2260Ter	p.Y2260*	ENST00000295956	NM_001457.3	2260	taC/taG	0	.	T:0	.	T:0	.	G	Y/*	protein_coding	YES	CCDS54599.1	6873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTACGAGGT	NONE	by1000G	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	T:0	.	ENSP00000420213	T:0	42/47	.	.	.	.	.	.	.	.	rs541513836	42/47	PASS	ENST00000490882	Transcript	.	T:0.0002	ENSG00000136068	3755	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,stop_gained,p.Tyr2249Ter,ENST00000429972,;FLNB,stop_gained,p.Tyr2260Ter,ENST00000295956,;FLNB,stop_gained,p.Tyr2236Ter,ENST00000358537,;FLNB,stop_gained,p.Tyr2291Ter,ENST00000490882,;FLNB,stop_gained,p.Tyr2219Ter,ENST00000348383,;FLNB,stop_gained,p.Tyr2067Ter,ENST00000493452,;FLNB,stop_gained,p.Tyr2080Ter,ENST00000419752,;FLNB,3_prime_UTR_variant,,ENST00000357272,;FLNB,downstream_gene_variant,,ENST00000466455,;FLNB,non_coding_transcript_exon_variant,,ENST00000468939,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,upstream_gene_variant,,ENST00000475487,;FLNB,downstream_gene_variant,,ENST00000470231,;FLNB,downstream_gene_variant,,ENST00000477629,;	7038	69	63	SUCCESS
LEF1	51176	.	GRCh37	4	109000723	109000723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1413007448	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	156	0	ENST00000265165.1:c.770G>A	p.Gly257Asp	p.G257D	ENST00000265165	NM_016269.4	257	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS3679.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCCAGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10373:SF11,hmmpanther:PTHR10373	.	.	ENSP00000265165	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000265165	Transcript	.	.	ENSG00000138795	6551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	LEF1_HUMAN	LEF1	HGNC	Q8IZI3_HUMAN,Q659G9_HUMAN	.	UPI0000052242	SNV	LEF1,missense_variant,p.Gly229Asp,ENST00000379951,;LEF1,missense_variant,p.Gly229Asp,ENST00000438313,;LEF1,missense_variant,p.Gly257Asp,ENST00000265165,;LEF1,missense_variant,p.Gly161Asp,ENST00000510624,;LEF1,downstream_gene_variant,,ENST00000515500,;LEF1,downstream_gene_variant,,ENST00000512172,;LEF1,non_coding_transcript_exon_variant,,ENST00000505379,;LEF1,non_coding_transcript_exon_variant,,ENST00000504775,;LEF1,non_coding_transcript_exon_variant,,ENST00000510135,;LEF1,non_coding_transcript_exon_variant,,ENST00000509428,;LEF1,upstream_gene_variant,,ENST00000503879,;LEF1,upstream_gene_variant,,ENST00000514444,;LEF1,downstream_gene_variant,,ENST00000505293,;LEF1,downstream_gene_variant,,ENST00000510717,;LEF1,missense_variant,p.Gly257Asp,ENST00000506680,;LEF1,3_prime_UTR_variant,,ENST00000504950,;LEF1,upstream_gene_variant,,ENST00000505328,;	1425	156	125	SUCCESS
CCNA2	890	.	GRCh37	4	122740571	122740571	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	57	133	0	ENST00000274026.5:c.958C>T	p.Leu320=	p.L320=	ENST00000274026	NM_001237.3	320	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3723.1	958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGAAAGT	NONE	.	.	hmmpanther:PTHR10177:SF69,hmmpanther:PTHR10177,Pfam_domain:PF02984,Gene3D:1.10.472.10,PIRSF_domain:PIRSF001771,SMART_domains:SM00385,Superfamily_domains:SSF47954	.	.	ENSP00000274026	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000274026	Transcript	.	.	ENSG00000145386	1578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNA2_HUMAN	CCNA2	HGNC	.	.	UPI000013D9E8	SNV	CCNA2,synonymous_variant,p.%3D,ENST00000274026,;EXOSC9,downstream_gene_variant,,ENST00000379663,;EXOSC9,downstream_gene_variant,,ENST00000512454,;EXOSC9,downstream_gene_variant,,ENST00000243498,;EXOSC9,downstream_gene_variant,,ENST00000509980,;EXOSC9,downstream_gene_variant,,ENST00000503139,;EXOSC9,downstream_gene_variant,,ENST00000503236,;EXOSC9,downstream_gene_variant,,ENST00000513654,;	1262	133	148	SUCCESS
VEGFC	7424	.	GRCh37	4	177608449	177608449	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs373146571	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	81	240	0	ENST00000280193.2:c.1037C>G	p.Thr346Ser	p.T346S	ENST00000280193	NM_005429.3	346	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS43285.1	1037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGTTCTT	NONE	byCluster	.	hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3	.	.	ENSP00000280193	.	6/7	.	.	.	.	.	.	.	.	rs373146571	6/7	PASS	ENST00000280193	Transcript	1	.	ENSG00000150630	12682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.25)	.	VEGFC_HUMAN	VEGFC	HGNC	.	.	UPI000020B749	SNV	VEGFC,missense_variant,p.Thr346Ser,ENST00000280193,;RP11-313E19.2,intron_variant,,ENST00000509194,;RP11-313E19.2,intron_variant,,ENST00000504017,;VEGFC,downstream_gene_variant,,ENST00000507638,;	1453	240	212	SUCCESS
DHX15	1665	.	GRCh37	4	24529578	24529578	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	55	126	0	ENST00000336812.4:c.2357A>C	p.Lys786Thr	p.K786T	ENST00000336812	NM_001358.2	786	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33966.1	2357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTTTGGCA	NONE	.	.	.	.	.	ENSP00000336741	.	14/14	.	.	.	.	.	.	.	.	COSM1429215	14/14	PASS	ENST00000336812	Transcript	.	.	ENSG00000109606	2738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	deleterious(0.05)	1	DHX15_HUMAN	DHX15	HGNC	.	.	UPI000012907A	SNV	DHX15,missense_variant,p.Lys786Thr,ENST00000336812,;DHX15,non_coding_transcript_exon_variant,,ENST00000513036,;DHX15,non_coding_transcript_exon_variant,,ENST00000512903,;DHX15,non_coding_transcript_exon_variant,,ENST00000504279,;DHX15,non_coding_transcript_exon_variant,,ENST00000508368,;DHX15,non_coding_transcript_exon_variant,,ENST00000508032,;DHX15,intron_variant,,ENST00000510645,;	2514	126	153	SUCCESS
KLB	152831	.	GRCh37	4	39409343	39409343	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	57	174	0	ENST00000257408.4:c.774A>T	p.Gly258=	p.G258=	ENST00000257408	NM_175737.3	258	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3451.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAGAGAA	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,synonymous_variant,p.%3D,ENST00000257408,;MIR5591,upstream_gene_variant,,ENST00000578248,;	871	174	169	SUCCESS
LIAS	11019	.	GRCh37	4	39460742	39460742	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372288500	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	46	0	ENST00000261434.3:c.5C>A	p.Ser2Tyr	p.S2Y	ENST00000261434	NM_006859.3	2	tCt/tAt	0	T:0.0002	.	.	.	.	A	S/Y	protein_coding	YES	CCDS3453.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCTCTAC	NONE	byCluster	.	hmmpanther:PTHR10949:SF0,hmmpanther:PTHR10949	.	T:0	ENSP00000261434	.	1/11	.	.	.	.	.	.	.	.	rs372288500	1/11	PASS	ENST00000261434	Transcript	1	.	ENSG00000121897	16429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	deleterious_low_confidence(0)	.	LIAS_HUMAN	LIAS	HGNC	.	.	UPI000004EE9F	SNV	LIAS,missense_variant,p.Ser2Tyr,ENST00000381846,;LIAS,missense_variant,p.Ser2Tyr,ENST00000261434,;LIAS,missense_variant,p.Ser2Tyr,ENST00000513731,;LIAS,missense_variant,p.Ser2Tyr,ENST00000340169,;RPL9,upstream_gene_variant,,ENST00000504470,;RPL9,upstream_gene_variant,,ENST00000503040,;RPL9,upstream_gene_variant,,ENST00000295955,;RPL9,upstream_gene_variant,,ENST00000508595,;RPL9,upstream_gene_variant,,ENST00000506581,;RPL9,upstream_gene_variant,,ENST00000449470,;LIAS,non_coding_transcript_exon_variant,,ENST00000515061,;LIAS,non_coding_transcript_exon_variant,,ENST00000509519,;LIAS,non_coding_transcript_exon_variant,,ENST00000424936,;RPL9,upstream_gene_variant,,ENST00000503277,;RPL9,upstream_gene_variant,,ENST00000511075,;RPL9,upstream_gene_variant,,ENST00000511643,;RPL9,upstream_gene_variant,,ENST00000437992,;RPL9,upstream_gene_variant,,ENST00000514842,;	123	46	54	SUCCESS
ZNF608	57507	.	GRCh37	5	124079774	124079774	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	65	211	0	ENST00000306315.5:c.906+3A>G		p.X302_splice	ENST00000306315	NM_020747.2	302		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34219.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTACCTT	NONE	.	.	.	.	.	ENSP00000307746	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	LOW	1/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,splice_region_variant,,ENST00000513986,;ZNF608,splice_region_variant,,ENST00000509799,;ZNF608,splice_region_variant,,ENST00000306315,;ZNF608,intron_variant,,ENST00000504926,;ZNF608,splice_region_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000512940,;ZNF608,splice_region_variant,,ENST00000505686,;	.	211	184	SUCCESS
PAIP2	51247	.	GRCh37	5	138704424	138704429	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	CAAGAG	CAAGAG	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	CAAGAG	CAAGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	101	29	163	0	ENST00000265192.4:c.324_329del	p.Lys108_Ser109del	p.K108_S109del	ENST00000265192	NM_016480.3	107	gtCAAGAGc/gtc	0	.	.	.	.	.	-	VKS/V	protein_coding	YES	CCDS4211.1	321-326	VARSCANI*|PINDEL	.	CCAGGTCAAGAGCAATC	NONE	.	.	hmmpanther:PTHR13154:SF2,hmmpanther:PTHR13154,Pfam_domain:PF07145	.	.	ENSP00000378275	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000394795	Transcript	.	.	ENSG00000120727	17970	3	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAIP2_HUMAN	PAIP2	HGNC	D6RA77_HUMAN	.	UPI0000049FBF	deletion	PAIP2,inframe_deletion,p.Lys108_Ser109del,ENST00000394795,;PAIP2,inframe_deletion,p.Lys48_Ser49del,ENST00000511706,;PAIP2,inframe_deletion,p.Lys108_Ser109del,ENST00000510080,;PAIP2,inframe_deletion,p.Lys108_Ser109del,ENST00000265192,;SLC23A1,intron_variant,,ENST00000348729,;SLC23A1,intron_variant,,ENST00000353963,;PAIP2,downstream_gene_variant,,ENST00000507755,;CTB-43P18.1,intron_variant,,ENST00000503553,;PAIP2,splice_region_variant,,ENST00000511381,;PAIP2,downstream_gene_variant,,ENST00000510409,;PAIP2,downstream_gene_variant,,ENST00000507415,;	1312-1317	163	130	SUCCESS
IGIP	492311	.	GRCh37	5	139506055	139506056	+	5_prime_UTR_variant	5'UTR	INS	-	-	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	63	0	ENST00000333305.3:c.-2005dup		p.*669*	ENST00000333305	NM_001007189.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34244.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CATAAGAATCA	NONE	.	.	.	.	.	ENSP00000327344	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333305	Transcript	.	.	ENSG00000182700	33847	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGIP_HUMAN	IGIP	HGNC	.	.	UPI000046D390	insertion	IGIP,5_prime_UTR_variant,,ENST00000333305,;	535-536	63	94	SUCCESS
GRIA1	2890	.	GRCh37	5	153065884	153065884	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	13	90	0	ENST00000285900.5:c.1129C>T	p.Arg377Ter	p.R377*	ENST00000285900	NM_000827.3	377	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS58987.1	1159	RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCGAAAG	BUFFER|p.D374D|c.1122C>T|4,BUFFER|p.D374D|c.1122C>T|6	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	8/16	.	.	.	.	.	.	.	.	COSM281516	8/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,stop_gained,p.Arg297Ter,ENST00000518142,;GRIA1,stop_gained,p.Arg387Ter,ENST00000518783,;GRIA1,stop_gained,p.Arg308Ter,ENST00000521843,;GRIA1,stop_gained,p.Arg377Ter,ENST00000285900,;GRIA1,stop_gained,p.Arg387Ter,ENST00000448073,;GRIA1,stop_gained,p.Arg377Ter,ENST00000340592,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	1186	90	91	SUCCESS
CCNG1	900	.	GRCh37	5	162866370	162866370	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	42	160	0	ENST00000340828.2:c.108A>C	p.Leu36=	p.L36=	ENST00000340828	NM_004060.3	36	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4360.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAATTGA	NONE	.	.	Superfamily_domains:SSF47954,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF59	.	.	ENSP00000344635	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000340828	Transcript	.	.	ENSG00000113328	1592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNG1_HUMAN	CCNG1	HGNC	D6RGX3_HUMAN,D6RCC5_HUMAN,B4DLW7_HUMAN	.	UPI00001275D2	SNV	CCNG1,synonymous_variant,p.%3D,ENST00000340828,;CCNG1,synonymous_variant,p.%3D,ENST00000393929,;CCNG1,synonymous_variant,p.%3D,ENST00000511490,;CCNG1,synonymous_variant,p.%3D,ENST00000510097,;CCNG1,intron_variant,,ENST00000511683,;CCNG1,intron_variant,,ENST00000512163,;CCNG1,intron_variant,,ENST00000510664,;CCNG1,upstream_gene_variant,,ENST00000504553,;AC112205.1,downstream_gene_variant,,ENST00000599797,;RP11-541P9.3,upstream_gene_variant,,ENST00000503504,;RP11-541P9.3,upstream_gene_variant,,ENST00000458002,;CCNG1,upstream_gene_variant,,ENST00000509143,;CCNG1,upstream_gene_variant,,ENST00000509425,;CCNG1,non_coding_transcript_exon_variant,,ENST00000506186,;CCNG1,non_coding_transcript_exon_variant,,ENST00000512532,;CCNG1,upstream_gene_variant,,ENST00000514367,;	332	160	124	SUCCESS
CTC-340A15.2	0	.	GRCh37	5	164028086	164028086	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	61	0	ENST00000486913.3:n.264G>A		p.*88*	ENST00000486913				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATGGAGAA	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000486913	Transcript	.	.	ENSG00000241956	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTC-340A15.2	Clone_based_vega_gene	.	.	.	SNV	CTC-340A15.2,non_coding_transcript_exon_variant,,ENST00000486913,;CTC-340A15.2,intron_variant,,ENST00000522646,;CTC-340A15.2,intron_variant,,ENST00000523704,;CTC-340A15.2,intron_variant,,ENST00000519570,;CTC-340A15.2,intron_variant,,ENST00000517508,;CTC-340A15.2,intron_variant,,ENST00000522303,;CTC-340A15.2,upstream_gene_variant,,ENST00000519750,;CTC-340A15.1,non_coding_transcript_exon_variant,,ENST00000522454,;	264	61	70	SUCCESS
RANBP17	64901	.	GRCh37	5	170346578	170346578	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	62	175	0	ENST00000523189.1:c.1235T>G	p.Phe412Cys	p.F412C	ENST00000523189	NM_022897.3	412	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS34287.1	1235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTTTATCA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	.	ENSP00000427975	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	deleterious(0)	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,missense_variant,p.Phe146Cys,ENST00000522734,;RANBP17,missense_variant,p.Phe412Cys,ENST00000523189,;RANBP17,non_coding_transcript_exon_variant,,ENST00000520879,;RANBP17,non_coding_transcript_exon_variant,,ENST00000522380,;RANBP17,upstream_gene_variant,,ENST00000517629,;RANBP17,missense_variant,p.Phe412Cys,ENST00000519949,;RANBP17,missense_variant,p.Phe412Cys,ENST00000389118,;RANBP17,missense_variant,p.Phe412Cys,ENST00000519256,;RANBP17,missense_variant,p.Phe412Cys,ENST00000522533,;RANBP17,missense_variant,p.Phe412Cys,ENST00000522066,;RANBP17,missense_variant,p.Phe390Cys,ENST00000520864,;	1399	175	167	SUCCESS
CDH9	1007	.	GRCh37	5	26881298	26881298	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs568693690	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	117	0	ENST00000231021.4:c.2317C>A	p.Arg773Ser	p.R773S	ENST00000231021	NM_016279.3	773	Cgt/Agt	0	.	A:0	.	A:0	.	T	R/S	protein_coding	YES	CCDS3893.1	2317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACGAGGCC	NONE	by1000G	.	Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	A:0	.	ENSP00000231021	A:0.001	12/12	.	.	.	.	.	.	.	.	rs568693690,COSM3615267	12/12	PASS	ENST00000231021	Transcript	.	A:0.0002	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.587)	A:0	deleterious(0.02)	0,1	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Arg773Ser,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2490	117	127	SUCCESS
ITGA2	3673	.	GRCh37	5	52347345	52347345	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	45	144	0	ENST00000296585.5:c.735T>C	p.Tyr245=	p.Y245=	ENST00000296585	NM_002203.3	245	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS3957.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATATGGTGG	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,PROSITE_profiles:PS50234	.	.	ENSP00000296585	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,synonymous_variant,p.%3D,ENST00000296585,;ITGA2,synonymous_variant,p.%3D,ENST00000510722,;ITGA2,synonymous_variant,p.%3D,ENST00000509960,;ITGA2,synonymous_variant,p.%3D,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;	878	144	150	SUCCESS
CDC20B	166979	.	GRCh37	5	54442574	54442574	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	117	0	ENST00000381375.2:c.237A>C	p.Gln79His	p.Q79H	ENST00000381375		79	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS54852.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTTTGCTG	NONE	.	.	hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918	.	.	ENSP00000370781	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000381375	Transcript	.	.	ENSG00000164287	24222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.05)	.	CD20B_HUMAN	CDC20B	HGNC	.	.	UPI0000D61625	SNV	CDC20B,missense_variant,p.Gln79His,ENST00000296733,;CDC20B,missense_variant,p.Gln58His,ENST00000331730,;CDC20B,missense_variant,p.Gln79His,ENST00000322374,;CDC20B,missense_variant,p.Gln79His,ENST00000334206,;CDC20B,missense_variant,p.Gln79His,ENST00000381375,;CDC20B,missense_variant,p.Gln79His,ENST00000513180,;CDC20B,missense_variant,p.Gln58His,ENST00000507931,;	383	117	105	SUCCESS
KIAA0947	0	.	GRCh37	5	5454677	5454677	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	33	82	0	ENST00000296564.7:c.617T>C	p.Leu206Pro	p.L206P	ENST00000296564	NM_015325.2	206	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47187.1	617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTGCTTC	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Leu206Pro,ENST00000296564,;KIAA0947,non_coding_transcript_exon_variant,,ENST00000512608,;	839	82	95	SUCCESS
SKIV2L2	0	.	GRCh37	5	54619962	54619962	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	78	0	ENST00000230640.5:c.275T>A	p.Leu92Ter	p.L92*	ENST00000230640	NM_015360.4	92	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS3967.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTTGGCAG	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,PIRSF_domain:PIRSF005198	.	.	ENSP00000230640	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,stop_gained,p.Leu92Ter,ENST00000230640,;SKIV2L2,intron_variant,,ENST00000545714,;SKIV2L2,splice_region_variant,,ENST00000503165,;SKIV2L2,splice_region_variant,,ENST00000504997,;SKIV2L2,splice_region_variant,,ENST00000504388,;SKIV2L2,stop_gained,p.Leu48Ter,ENST00000505565,;SKIV2L2,intron_variant,,ENST00000506750,;SKIV2L2,upstream_gene_variant,,ENST00000502953,;	529	78	104	SUCCESS
IL6ST	3572	.	GRCh37	5	55259985	55259985	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	70	177	0	ENST00000336909.5:c.647C>A	p.Pro216His	p.P216H	ENST00000336909		216	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS3971.1	647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGGATCA	NONE	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	COSM1728377	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	SNV	IL6ST,missense_variant,p.Pro216His,ENST00000522633,;IL6ST,missense_variant,p.Pro216His,ENST00000381287,;IL6ST,missense_variant,p.Pro216His,ENST00000336909,;IL6ST,missense_variant,p.Pro216His,ENST00000381298,;IL6ST,missense_variant,p.Pro216His,ENST00000536319,;IL6ST,missense_variant,p.Pro216His,ENST00000381294,;IL6ST,missense_variant,p.Pro216His,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,downstream_gene_variant,,ENST00000396816,;IL6ST,downstream_gene_variant,,ENST00000577363,;IL6ST,missense_variant,p.Pro216His,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	960	177	204	SUCCESS
PLK2	10769	.	GRCh37	5	57752800	57752800	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	44	86	0	ENST00000274289.3:c.1128A>G	p.Lys376=	p.K376=	ENST00000274289	NM_006622.3	376	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS3974.1	1128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCTTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24345:SF44,hmmpanther:PTHR24345	.	.	ENSP00000274289	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000274289	Transcript	.	.	ENSG00000145632	19699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLK2_HUMAN	PLK2	HGNC	.	.	UPI0000135B35	SNV	PLK2,synonymous_variant,p.%3D,ENST00000274289,;PLK2,non_coding_transcript_exon_variant,,ENST00000502671,;PLK2,non_coding_transcript_exon_variant,,ENST00000510629,;PLK2,non_coding_transcript_exon_variant,,ENST00000503713,;PLK2,downstream_gene_variant,,ENST00000509422,;PLK2,upstream_gene_variant,,ENST00000505244,;PLK2,downstream_gene_variant,,ENST00000514306,;PLK2,downstream_gene_variant,,ENST00000503115,;PLK2,downstream_gene_variant,,ENST00000515415,;PLK2,downstream_gene_variant,,ENST00000504196,;PLK2,downstream_gene_variant,,ENST00000509555,;PLK2,upstream_gene_variant,,ENST00000511326,;PLK2,upstream_gene_variant,,ENST00000503378,;PLK2,downstream_gene_variant,,ENST00000508300,;	1429	86	127	SUCCESS
FCHO2	115548	.	GRCh37	5	72377662	72377662	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	49	143	0	ENST00000430046.2:c.2033A>C	p.Lys678Thr	p.K678T	ENST00000430046	NM_138782.2	678	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS47230.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAATGTA	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8,Pfam_domain:PF10291	.	.	ENSP00000393776	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000430046	Transcript	.	.	ENSG00000157107	25180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FCHO2_HUMAN	FCHO2	HGNC	B4DEU7_HUMAN	.	UPI000019971A	SNV	FCHO2,missense_variant,p.Lys645Thr,ENST00000512348,;FCHO2,missense_variant,p.Lys678Thr,ENST00000341845,;FCHO2,missense_variant,p.Lys678Thr,ENST00000430046,;FCHO2,downstream_gene_variant,,ENST00000508431,;	2149	143	142	SUCCESS
ADCY2	108	.	GRCh37	5	7773106	7773106	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1191187300	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	210	117	317	0	ENST00000338316.4:c.2276A>G	p.Tyr759Cys	p.Y759C	ENST00000338316	NM_020546.2	759	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3872.2	2276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTATGAGC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0)	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Tyr759Cys,ENST00000338316,;ADCY2,missense_variant,p.Tyr579Cys,ENST00000537121,;ADCY2,upstream_gene_variant,,ENST00000493243,;	2365	317	327	SUCCESS
SSBP2	23635	.	GRCh37	5	80762867	80762867	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	rs759373846	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	65	223	0	ENST00000320672.4:c.571-7A>T		p.X191_splice	ENST00000320672	NM_001256732.1	191		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4056.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAATGATAA	NONE	.	.	.	.	.	ENSP00000322977	.	.	.	.	.	.	.	.	.	.	rs759373846	.	PASS	ENST00000320672	Transcript	.	.	ENSG00000145687	15831	.	.	LOW	8/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSBP2_HUMAN	SSBP2	HGNC	.	.	UPI000003DBBE	SNV	SSBP2,synonymous_variant,p.%3D,ENST00000515395,;SSBP2,synonymous_variant,p.%3D,ENST00000504985,;SSBP2,splice_region_variant,,ENST00000505980,;SSBP2,splice_region_variant,,ENST00000509053,;SSBP2,splice_region_variant,,ENST00000509013,;SSBP2,splice_region_variant,,ENST00000320672,;SSBP2,splice_region_variant,,ENST00000514493,;SSBP2,splice_region_variant,,ENST00000512923,;SSBP2,splice_region_variant,,ENST00000507472,;SSBP2,splice_region_variant,,ENST00000504174,;SSBP2,splice_region_variant,,ENST00000509743,;SSBP2,splice_region_variant,,ENST00000507655,;	.	223	178	SUCCESS
GPR98	0	.	GRCh37	5	90079723	90079723	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	86	0	ENST00000405460.2:c.13502T>C	p.Leu4501Pro	p.L4501P	ENST00000405460	NM_032119.3	4501	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47246.1	13502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTAGTGA	BUFFER|p.S4503G|c.13507A>G|7,BUFFER|p.R4504G|c.13510A>G|3,BUFFER|p.R4504K|c.13511G>A|3	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	67/90	.	.	.	.	.	.	.	.	.	67/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Leu4501Pro,ENST00000405460,;GPR98,missense_variant,p.Leu162Pro,ENST00000425867,;	13598	86	103	SUCCESS
GPR98	0	.	GRCh37	5	90079728	90079728	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs764716759	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	19	91	0	ENST00000405460.2:c.13507A>C	p.Ser4503Arg	p.S4503R	ENST00000405460	NM_032119.3	4503	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS47246.1	13507	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGAGCAGA	BUFFER|p.R4504K|c.13511G>A|3	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	67/90	.	.	.	.	.	.	.	.	rs764716759,COSM1634369,COSM1620640	67/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.944)	.	.	0,1,1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ser4503Arg,ENST00000405460,;GPR98,missense_variant,p.Ser164Arg,ENST00000425867,;	13603	91	105	SUCCESS
ELL2	22936	.	GRCh37	5	95236720	95236720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	43	174	0	ENST00000237853.4:c.806A>G	p.Gln269Arg	p.Q269R	ENST00000237853	NM_012081.5	269	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4080.1	806	RADIA|MUTECT|MUSE	.	CTCTTTGAAGC	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288,Pfam_domain:PF10390,Superfamily_domains:SSF46785	.	.	ENSP00000237853	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.848)	.	deleterious(0.01)	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,missense_variant,p.Gln87Arg,ENST00000513343,;ELL2,missense_variant,p.Gln269Arg,ENST00000237853,;ELL2,intron_variant,,ENST00000431061,;ELL2,upstream_gene_variant,,ENST00000508757,;ELL2,non_coding_transcript_exon_variant,,ENST00000505584,;	1156	174	146	SUCCESS
ELL2	22936	.	GRCh37	5	95236730	95236730	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	40	174	0	ENST00000237853.4:c.796A>T	p.Lys266Ter	p.K266*	ENST00000237853	NM_012081.5	266	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4080.1	796	RADIA|MUTECT|MUSE	.	CTCTTTAAAAA	NONE	.	.	hmmpanther:PTHR23288:SF8,hmmpanther:PTHR23288,Pfam_domain:PF10390,Superfamily_domains:SSF46785	.	.	ENSP00000237853	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000237853	Transcript	.	.	ENSG00000118985	17064	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELL2_HUMAN	ELL2	HGNC	Q59FW6_HUMAN,B4DTQ1_HUMAN	.	UPI000013CA27	SNV	ELL2,stop_gained,p.Lys84Ter,ENST00000513343,;ELL2,stop_gained,p.Lys266Ter,ENST00000237853,;ELL2,intron_variant,,ENST00000431061,;ELL2,upstream_gene_variant,,ENST00000508757,;ELL2,non_coding_transcript_exon_variant,,ENST00000505584,;	1146	174	136	SUCCESS
RNF146	81847	.	GRCh37	6	127608258	127608258	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	75	0	ENST00000368314.1:c.500A>C	p.Lys167Thr	p.K167T	ENST00000368314	NM_001242850.1	167	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS56449.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTAAGCGAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50918,hmmpanther:PTHR13417,Pfam_domain:PF02825,SMART_domains:SM00678,Superfamily_domains:SSF117839	.	.	ENSP00000357297	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368314	Transcript	.	.	ENSG00000118518	21336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RN146_HUMAN	RNF146	HGNC	.	.	UPI000007395E	SNV	RNF146,missense_variant,p.Lys167Thr,ENST00000610153,;RNF146,missense_variant,p.Lys167Thr,ENST00000368314,;RNF146,missense_variant,p.Lys166Thr,ENST00000608991,;RNF146,missense_variant,p.Lys166Thr,ENST00000309649,;RNF146,3_prime_UTR_variant,,ENST00000356799,;ECHDC1,downstream_gene_variant,,ENST00000454859,;ECHDC1,downstream_gene_variant,,ENST00000528402,;ECHDC1,downstream_gene_variant,,ENST00000368289,;RNF146,downstream_gene_variant,,ENST00000609447,;RNF146,downstream_gene_variant,,ENST00000477776,;RNF146,downstream_gene_variant,,ENST00000476956,;ECHDC1,downstream_gene_variant,,ENST00000531967,;RNF146,downstream_gene_variant,,ENST00000609944,;ECHDC1,downstream_gene_variant,,ENST00000454591,;ECHDC1,downstream_gene_variant,,ENST00000368291,;RNF146,downstream_gene_variant,,ENST00000480444,;ECHDC1,downstream_gene_variant,,ENST00000309620,;ECHDC1,downstream_gene_variant,,ENST00000460558,;ECHDC1,downstream_gene_variant,,ENST00000436638,;ECHDC1,downstream_gene_variant,,ENST00000430841,;RNF146,downstream_gene_variant,,ENST00000610162,;ECHDC1,downstream_gene_variant,,ENST00000474289,;RNF146,downstream_gene_variant,,ENST00000608340,;RNF146,downstream_gene_variant,,ENST00000489534,;ECHDC1,downstream_gene_variant,,ENST00000488087,;ECHDC1,downstream_gene_variant,,ENST00000368292,;ECHDC1,downstream_gene_variant,,ENST00000368295,;ECHDC1,downstream_gene_variant,,ENST00000417628,;ECHDC1,downstream_gene_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000479525,;	924	75	87	SUCCESS
SAMD3	154075	.	GRCh37	6	130536349	130536349	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	96	0	ENST00000368134.2:c.70A>G	p.Arg24Gly	p.R24G	ENST00000368134	NM_001258275.1	24	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS34539.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTATGAA	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR12844:SF18,hmmpanther:PTHR12844,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000357116	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000368134	Transcript	.	.	ENSG00000164483	21574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious_low_confidence(0)	.	SAMD3_HUMAN	SAMD3	HGNC	E9PS85_HUMAN	.	UPI000006DCE7	SNV	SAMD3,missense_variant,p.Arg24Gly,ENST00000529723,;SAMD3,missense_variant,p.Arg24Gly,ENST00000531544,;SAMD3,missense_variant,p.Arg24Gly,ENST00000532763,;SAMD3,missense_variant,p.Arg48Gly,ENST00000457563,;SAMD3,missense_variant,p.Arg24Gly,ENST00000437477,;SAMD3,missense_variant,p.Arg24Gly,ENST00000532309,;SAMD3,missense_variant,p.Arg24Gly,ENST00000368134,;SAMD3,missense_variant,p.Arg24Gly,ENST00000324172,;SAMD3,missense_variant,p.Arg24Gly,ENST00000439090,;SAMD3,non_coding_transcript_exon_variant,,ENST00000533296,;SAMD3,missense_variant,p.Arg24Gly,ENST00000524930,;	679	96	109	SUCCESS
KIAA1244	0	.	GRCh37	6	138608320	138608320	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	27	0	ENST00000251691.4:c.2895A>C	p.Gln965His	p.Q965H	ENST00000251691	NM_020340.4	965	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS5189.2	2895	RADIA|MUTECT|MUSE	.	ACACAAGGTAA	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Gln965His,ENST00000251691,;	3061	27	30	SUCCESS
JARID2	3720	.	GRCh37	6	15468853	15468853	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	78	158	0	ENST00000341776.2:c.574A>T	p.Thr192Ser	p.T192S	ENST00000341776	NM_004973.3	192	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4533.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGACAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10694	.	.	ENSP00000341280	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.55)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Thr20Ser,ENST00000397311,;JARID2,missense_variant,p.Thr154Ser,ENST00000541660,;JARID2,missense_variant,p.Thr192Ser,ENST00000341776,;	818	158	184	SUCCESS
SLC44A4	80736	.	GRCh37	6	31833747	31833747	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149591801	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	44	98	0	ENST00000229729.6:c.1390G>A	p.Val464Ile	p.V464I	ENST00000229729	NM_025257.2	464	Gtc/Atc	0	T:0	T:0	.	T:0	.	T	V/I	protein_coding	YES	CCDS4724.2	1390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACGCATT	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37,Pfam_domain:PF04515	T:0	T:0.0002	ENSP00000229729	T:0	14/21	.	.	.	.	.	.	.	.	rs149591801,COSM241655	14/21	PASS	ENST00000229729	Transcript	.	T:0.0012	ENSG00000204385	13941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.96)	T:0.0061	deleterious(0)	0,1	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,missense_variant,p.Val348Ile,ENST00000414427,;SLC44A4,missense_variant,p.Val464Ile,ENST00000229729,;SLC44A4,missense_variant,p.Val388Ile,ENST00000544672,;SLC44A4,missense_variant,p.Val422Ile,ENST00000375562,;NEU1,upstream_gene_variant,,ENST00000375631,;SLC44A4,upstream_gene_variant,,ENST00000487680,;NEU1,upstream_gene_variant,,ENST00000495807,;SLC44A4,downstream_gene_variant,,ENST00000475563,;NEU1,upstream_gene_variant,,ENST00000491768,;NEU1,upstream_gene_variant,,ENST00000480384,;SLC44A4,downstream_gene_variant,,ENST00000479777,;	1411	98	109	SUCCESS
TAP1	6890	.	GRCh37	6	32821062	32821062	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	50	82	1	ENST00000354258.4:c.532T>C	p.Ser178Pro	p.S178P	ENST00000354258	NM_000593.5	178	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4758.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGAGATCA	NONE	.	.	hmmpanther:PTHR24221:SF3,hmmpanther:PTHR24221,TIGRFAM_domain:TIGR00958,Prints_domain:PR01896	.	.	ENSP00000346206	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000354258	Transcript	.	.	ENSG00000168394	43	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.02)	.	TAP1_HUMAN	TAP1	HGNC	Q9UEE1_HUMAN,Q69DM1_HUMAN,Q53WZ1_HUMAN,F5H648_HUMAN	.	UPI000002D4E6	SNV	TAP1,missense_variant,p.Ser178Pro,ENST00000354258,;PSMB9,intron_variant,,ENST00000395330,;PSMB9,intron_variant,,ENST00000414474,;PSMB9,upstream_gene_variant,,ENST00000374859,;PSMB9,upstream_gene_variant,,ENST00000453265,;TAP1,upstream_gene_variant,,ENST00000425148,;PSMB9,upstream_gene_variant,,ENST00000467593,;TAP1,upstream_gene_variant,,ENST00000486332,;PSMB9,upstream_gene_variant,,ENST00000464863,;	694	83	140	SUCCESS
TAP1	6890	.	GRCh37	6	32821435	32821435	+	synonymous_variant	Silent	SNP	G	G	A	rs770660372	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	30	0	ENST00000354258.4:c.159C>T	p.Asp53=	p.D53=	ENST00000354258	NM_000593.5	53	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS4758.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGGTCCCG	NONE	.	.	.	.	.	ENSP00000346206	.	1/11	.	.	.	.	.	.	.	.	rs770660372	1/11	PASS	ENST00000354258	Transcript	.	.	ENSG00000168394	43	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAP1_HUMAN	TAP1	HGNC	Q9UEE1_HUMAN,Q69DM1_HUMAN,Q53WZ1_HUMAN,F5H648_HUMAN	.	UPI000002D4E6	SNV	TAP1,synonymous_variant,p.%3D,ENST00000354258,;PSMB9,intron_variant,,ENST00000395330,;PSMB9,intron_variant,,ENST00000414474,;PSMB9,upstream_gene_variant,,ENST00000374859,;PSMB9,upstream_gene_variant,,ENST00000453265,;TAP1,upstream_gene_variant,,ENST00000425148,;PSMB9,upstream_gene_variant,,ENST00000467593,;TAP1,upstream_gene_variant,,ENST00000486332,;PSMB9,upstream_gene_variant,,ENST00000464863,;	321	30	37	SUCCESS
RPS10	6204	.	GRCh37	6	34389539	34389539	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	33	96	0	ENST00000326199.8:c.368A>G	p.Asp123Gly	p.D123G	ENST00000326199	NM_001014.4	123	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4792.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTCAGCT	NONE	.	.	hmmpanther:PTHR12146:SF1,hmmpanther:PTHR12146	.	.	ENSP00000347271	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000326199	Transcript	.	.	ENSG00000124614	10383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.04)	.	RS10_HUMAN	RPS10	HGNC	.	.	UPI0000134BA7	SNV	RPS10,missense_variant,p.Asp123Gly,ENST00000326199,;RPS10-NUDT3,missense_variant,p.Asp123Gly,ENST00000605528,;RPS10,missense_variant,p.Asp123Gly,ENST00000344700,;RPS10,non_coding_transcript_exon_variant,,ENST00000467531,;RPS10,non_coding_transcript_exon_variant,,ENST00000464218,;RPS10,non_coding_transcript_exon_variant,,ENST00000494077,;RPS10,downstream_gene_variant,,ENST00000480942,;	462	96	105	SUCCESS
CUL9	23113	.	GRCh37	6	43174240	43174240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	62	185	0	ENST00000252050.4:c.5204A>G	p.Tyr1735Cys	p.Y1735C	ENST00000252050	NM_015089.2	1735	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4890.1	5204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTACAGCC	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Gene3D:1ldjA05,Pfam_domain:PF00888,Superfamily_domains:SSF75632	.	.	ENSP00000252050	.	26/41	.	.	.	.	.	.	.	.	.	26/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.1)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Tyr1625Cys,ENST00000354495,;CUL9,missense_variant,p.Tyr1735Cys,ENST00000372647,;CUL9,missense_variant,p.Tyr1735Cys,ENST00000252050,;CUL9,non_coding_transcript_exon_variant,,ENST00000502937,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000505172,;CUL9,intron_variant,,ENST00000504485,;CUL9,intron_variant,,ENST00000502719,;CUL9,downstream_gene_variant,,ENST00000515344,;CUL9,downstream_gene_variant,,ENST00000512408,;	5288	185	164	SUCCESS
PGM3	5238	.	GRCh37	6	83896734	83896734	+	synonymous_variant	Silent	SNP	T	T	C	rs755097152	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	66	194	0	ENST00000513973.1:c.450A>G	p.Gln150=	p.Q150=	ENST00000513973	NM_001199918.1	150	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS56436.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAATTGACC	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF15,Gene3D:3.40.120.10,Pfam_domain:PF02878,PIRSF_domain:PIRSF016408,Superfamily_domains:SSF53738	.	.	ENSP00000425809	.	5/14	.	.	.	.	.	.	.	.	rs755097152	5/14	PASS	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,synonymous_variant,p.%3D,ENST00000512866,;PGM3,synonymous_variant,p.%3D,ENST00000513973,;PGM3,synonymous_variant,p.%3D,ENST00000283977,;PGM3,synonymous_variant,p.%3D,ENST00000510258,;PGM3,synonymous_variant,p.%3D,ENST00000506587,;PGM3,downstream_gene_variant,,ENST00000503094,;PGM3,downstream_gene_variant,,ENST00000605602,;PGM3,downstream_gene_variant,,ENST00000508748,;PGM3,downstream_gene_variant,,ENST00000507554,;PGM3,3_prime_UTR_variant,,ENST00000505470,;PGM3,downstream_gene_variant,,ENST00000515333,;	681	194	218	SUCCESS
KIAA1009	0	.	GRCh37	6	84936140	84936140	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	63	0	ENST00000403245.3:c.-29T>C		p.*10*	ENST00000403245	NM_014895.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34494.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAAACATTC	NONE	.	.	.	.	.	ENSP00000385215	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000403245	Transcript	.	.	ENSG00000135315	21107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE162_HUMAN	KIAA1009	HGNC	B3KN48_HUMAN	.	UPI0001533DAA	SNV	KIAA1009,5_prime_UTR_variant,,ENST00000403245,;KIAA1009,intron_variant,,ENST00000257766,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000497936,;KIAA1009,5_prime_UTR_variant,,ENST00000435955,;	87	63	74	SUCCESS
GABRR1	2569	.	GRCh37	6	89899880	89899888	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCACAGCTT	TCACAGCTT	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	TCACAGCTT	TCACAGCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	139	0	ENST00000454853.2:c.651_655+4del		p.X217_splice	ENST00000454853	NM_001256704.1	217		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5019.2	651-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTACTCACAGCTTTCAAT	NONE	.	.	.	.	.	ENSP00000412673	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000454853	Transcript	.	.	ENSG00000146276	4090	.	.	HIGH	6/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBRR1_HUMAN	GABRR1	HGNC	.	.	UPI0000D4AF7D	deletion	GABRR1,splice_donor_variant,,ENST00000435811,;GABRR1,splice_donor_variant,,ENST00000369451,;GABRR1,splice_donor_variant,,ENST00000454853,;GABRR1,splice_donor_variant,,ENST00000457434,;	762-?	139	87	SUCCESS
CAPZA2	830	.	GRCh37	7	116544394	116544394	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	71	0	ENST00000361183.3:c.383T>A	p.Leu128Gln	p.L128Q	ENST00000361183	NM_006136.2	128	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS5768.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTGAGAG	NONE	.	.	hmmpanther:PTHR10653:SF2,hmmpanther:PTHR10653,Pfam_domain:PF01267,Superfamily_domains:SSF90096	.	.	ENSP00000354947	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000361183	Transcript	.	.	ENSG00000198898	1490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.01)	.	CAZA2_HUMAN	CAPZA2	HGNC	A4D0V4_HUMAN	.	UPI00001270FC	SNV	CAPZA2,missense_variant,p.Leu128Gln,ENST00000458284,;CAPZA2,missense_variant,p.Leu128Gln,ENST00000361183,;CAPZA2,missense_variant,p.Leu128Gln,ENST00000490693,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000417431,;CAPZA2,downstream_gene_variant,,ENST00000414148,;CAPZA2,missense_variant,p.Leu128Gln,ENST00000426421,;CAPZA2,3_prime_UTR_variant,,ENST00000449080,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000464669,;	522	71	77	SUCCESS
SND1	27044	.	GRCh37	7	127338946	127338946	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	76	0	ENST00000354725.3:c.367A>G	p.Ile123Val	p.I123V	ENST00000354725	NM_014390.2	123	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34747.1	367	MUTECT|MUSE	.	AAAACATTGCA	NONE	.	.	PROSITE_profiles:PS50830,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00565,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,SMART_domains:SM00318,Superfamily_domains:0047647	.	.	ENSP00000346762	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.024)	.	tolerated(1)	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,missense_variant,p.Ile123Val,ENST00000354725,;SND1,non_coding_transcript_exon_variant,,ENST00000468621,;SND1,non_coding_transcript_exon_variant,,ENST00000492772,;SND1,non_coding_transcript_exon_variant,,ENST00000461056,;SND1,non_coding_transcript_exon_variant,,ENST00000483503,;	561	76	90	SUCCESS
MEOX2	4223	.	GRCh37	7	15725601	15725601	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	41	0	ENST00000262041.5:c.427G>A	p.Ala143Thr	p.A143T	ENST00000262041	NM_005924.4	143	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34605.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGCGGCCC	NONE	.	.	hmmpanther:PTHR24328:SF1,hmmpanther:PTHR24328	.	.	ENSP00000262041	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000262041	Transcript	.	.	ENSG00000106511	7014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.29)	.	MEOX2_HUMAN	MEOX2	HGNC	Q6FHY5_HUMAN,A4D127_HUMAN	.	UPI000013D247	SNV	MEOX2,missense_variant,p.Ala143Thr,ENST00000262041,;AC005550.5,downstream_gene_variant,,ENST00000438923,;AC005550.4,upstream_gene_variant,,ENST00000442176,;AC005550.3,downstream_gene_variant,,ENST00000451240,;	837	41	76	SUCCESS
HNRNPA2B1	3181	.	GRCh37	7	26237265	26237265	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	35	182	0	ENST00000354667.4:c.130T>G	p.Trp44Gly	p.W44G	ENST00000354667	NM_031243.2	44	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS43557.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCATTGTT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000346694	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000354667	Transcript	.	.	ENSG00000122566	5033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	ROA2_HUMAN	HNRNPA2B1	HGNC	.	.	UPI000002F091	SNV	HNRNPA2B1,missense_variant,p.Trp44Gly,ENST00000354667,;HNRNPA2B1,missense_variant,p.Trp32Gly,ENST00000356674,;CBX3,upstream_gene_variant,,ENST00000456948,;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000337620,;CBX3,upstream_gene_variant,,ENST00000396386,;CBX3,upstream_gene_variant,,ENST00000497498,;HNRNPA2B1,missense_variant,p.Trp44Gly,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;	299	183	144	SUCCESS
PDE1C	5137	.	GRCh37	7	31793110	31793110	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	62	139	0	ENST00000321453.7:c.2018C>A	p.Ala673Glu	p.A673E	ENST00000321453	NM_001191059.1	673	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS55100.1	2198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTGCATAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000379496	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.335)	.	tolerated_low_confidence(0.27)	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Ala673Glu,ENST00000396191,;PDE1C,missense_variant,p.Ala733Glu,ENST00000396193,;PDE1C,missense_variant,p.Ala673Glu,ENST00000321453,;	2792	139	161	SUCCESS
EEPD1	80820	.	GRCh37	7	36336620	36336620	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	39	83	0	ENST00000242108.4:c.1334T>C	p.Ile445Thr	p.I445T	ENST00000242108	NM_030636.2	445	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34619.1	1334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATCTTAG	NONE	.	.	Superfamily_domains:SSF56219,Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR21180,hmmpanther:PTHR21180:SF32	.	.	ENSP00000242108	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000242108	Transcript	.	.	ENSG00000122547	22223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.349)	.	deleterious(0)	.	EEPD1_HUMAN	EEPD1	HGNC	.	.	UPI000020ED9D	SNV	EEPD1,missense_variant,p.Ile445Thr,ENST00000242108,;EEPD1,missense_variant,p.Ile445Thr,ENST00000534978,;EEPD1,upstream_gene_variant,,ENST00000444777,;EEPD1,non_coding_transcript_exon_variant,,ENST00000468591,;EEPD1,non_coding_transcript_exon_variant,,ENST00000487069,;	2052	83	105	SUCCESS
NPC1L1	29881	.	GRCh37	7	44579886	44579886	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	72	0	ENST00000289547.4:c.110A>G	p.Asp37Gly	p.D37G	ENST00000289547	NM_013389.2	37	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5491.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCGTCATAG	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.82)	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,missense_variant,p.Asp37Gly,ENST00000546276,;NPC1L1,missense_variant,p.Asp37Gly,ENST00000381160,;NPC1L1,missense_variant,p.Asp37Gly,ENST00000423141,;NPC1L1,missense_variant,p.Asp37Gly,ENST00000289547,;	166	72	69	SUCCESS
IGFBP3	3486	.	GRCh37	7	45956856	45956856	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	54	179	0	ENST00000275521.6:c.586G>A	p.Asp196Asn	p.D196N	ENST00000275521	NM_001013398.1	196	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34632.1	604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATCTGTGC	NONE	.	.	hmmpanther:PTHR11551:SF3,hmmpanther:PTHR11551,Prints_domain:PR01979	.	.	ENSP00000370473	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000381083	Transcript	.	.	ENSG00000146674	5472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	IBP3_HUMAN	IGFBP3	HGNC	B3KPF0_HUMAN	.	UPI00004F8E1F	SNV	IGFBP3,missense_variant,p.Asp196Asn,ENST00000275521,;IGFBP3,missense_variant,p.Asp86Asn,ENST00000448817,;IGFBP3,missense_variant,p.Asp202Asn,ENST00000381083,;IGFBP3,missense_variant,p.Asp48Asn,ENST00000428530,;IGFBP3,missense_variant,p.Asp58Asn,ENST00000417621,;IGFBP3,missense_variant,p.Asp99Asn,ENST00000381086,;IGFBP3,non_coding_transcript_exon_variant,,ENST00000465642,;IGFBP3,non_coding_transcript_exon_variant,,ENST00000460477,;IGFBP3,upstream_gene_variant,,ENST00000460209,;	715	179	153	SUCCESS
GUSB	2990	.	GRCh37	7	65425954	65425954	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	73	276	0	ENST00000304895.4:c.1886T>A	p.Ile629Asn	p.I629N	ENST00000304895	NM_000181.3	629	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS5530.1	1886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAATCTTC	NONE	.	.	hmmpanther:PTHR10066:SF51,hmmpanther:PTHR10066,Pfam_domain:PF02836,Superfamily_domains:SSF51445	.	.	ENSP00000302728	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000304895	Transcript	.	.	ENSG00000169919	4696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	BGLR_HUMAN	GUSB	HGNC	.	.	UPI000013E9E0	SNV	GUSB,missense_variant,p.Ile578Asn,ENST00000345660,;GUSB,missense_variant,p.Ile629Asn,ENST00000304895,;GUSB,missense_variant,p.Ile483Asn,ENST00000421103,;VKORC1L1,downstream_gene_variant,,ENST00000360768,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,non_coding_transcript_exon_variant,,ENST00000466883,;GUSB,downstream_gene_variant,,ENST00000462371,;GUSB,downstream_gene_variant,,ENST00000461622,;	2017	276	242	SUCCESS
WBSCR22	0	.	GRCh37	7	73105342	73105342	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	105	328	0	ENST00000423497.1:c.459C>A		p.X153_splice	ENST00000423497	NM_001202560.2	153	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS56490.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTCGTGAG	NONE	.	.	hmmpanther:PTHR12734:SF0,hmmpanther:PTHR12734,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000401191	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000423497	Transcript	.	.	ENSG00000071462	16405	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	WBSCR22	HGNC	C9K060_HUMAN	.	UPI0000423E27	SNV	WBSCR22,synonymous_variant,p.%3D,ENST00000265758,;WBSCR22,synonymous_variant,p.%3D,ENST00000442099,;WBSCR22,synonymous_variant,p.%3D,ENST00000423497,;WBSCR22,intron_variant,,ENST00000423166,;WBSCR22,upstream_gene_variant,,ENST00000453316,;WBSCR22,downstream_gene_variant,,ENST00000464615,;WBSCR22,stop_gained,p.Ser121Ter,ENST00000432522,;WBSCR22,splice_region_variant,,ENST00000496153,;WBSCR22,splice_region_variant,,ENST00000430270,;WBSCR22,splice_region_variant,,ENST00000441822,;WBSCR22,splice_region_variant,,ENST00000463307,;WBSCR22,intron_variant,,ENST00000487006,;WBSCR22,intron_variant,,ENST00000430446,;WBSCR22,intron_variant,,ENST00000478670,;WBSCR22,intron_variant,,ENST00000436944,;WBSCR22,intron_variant,,ENST00000428163,;WBSCR22,intron_variant,,ENST00000421744,;WBSCR22,upstream_gene_variant,,ENST00000471215,;WBSCR22,downstream_gene_variant,,ENST00000421304,;	459	328	299	SUCCESS
UPK3B	105375355	.	GRCh37	7	76141019	76141019	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	85	316	0	ENST00000257632.5:c.446C>T	p.Ala149Val	p.A149V	ENST00000257632		149	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5588.1	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCCTCCC	NONE	.	.	hmmpanther:PTHR15446,hmmpanther:PTHR15446:SF16	.	.	ENSP00000441602	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000419923	Transcript	.	.	ENSG00000243566	21444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated_low_confidence(0.19)	.	UPK3B_HUMAN	UPK3B	HGNC	.	.	UPI00001AE7A4	SNV	UPK3B,missense_variant,p.Ala149Val,ENST00000419923,;UPK3B,missense_variant,p.Ala149Val,ENST00000257632,;UPK3B,missense_variant,p.Ala149Val,ENST00000448265,;UPK3B,missense_variant,p.Ala94Val,ENST00000334348,;UPK3B,missense_variant,p.Ala94Val,ENST00000394849,;UPK3B,missense_variant,p.Ala94Val,ENST00000443097,;UPK3B,non_coding_transcript_exon_variant,,ENST00000490360,;UPK3B,non_coding_transcript_exon_variant,,ENST00000469114,;	671	316	304	SUCCESS
PHTF2	57157	.	GRCh37	7	77567177	77567177	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	40	0	ENST00000248550.7:c.1467+22T>G		p.*489*	ENST00000248550				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTTGTAG	NONE	.	.	.	.	.	ENSP00000400958	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	MODIFIER	11/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,intron_variant,,ENST00000416283,;PHTF2,intron_variant,,ENST00000422959,;PHTF2,intron_variant,,ENST00000248550,;PHTF2,intron_variant,,ENST00000307305,;PHTF2,intron_variant,,ENST00000275575,;PHTF2,intron_variant,,ENST00000424760,;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,upstream_gene_variant,,ENST00000470215,;PHTF2,intron_variant,,ENST00000479515,;	.	40	51	SUCCESS
MAGI2	9863	.	GRCh37	7	78130892	78130893	+	splice_donor_variant	Splice_Site	INS	-	-	CT	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	155	0	ENST00000354212.4:c.965_965+1dup		p.X322_splice	ENST00000354212	NM_012301.3	322		0	.	.	.	.	.	CT	.	protein_coding	YES	CCDS5594.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTCACTCAA	NONE	.	.	.	.	.	ENSP00000346151	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	HIGH	5/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	insertion	MAGI2,splice_donor_variant,,ENST00000536571,;MAGI2,splice_donor_variant,,ENST00000535697,;MAGI2,splice_donor_variant,,ENST00000354212,;MAGI2,splice_donor_variant,,ENST00000419488,;MAGI2,splice_donor_variant,,ENST00000522391,;	.	155	122	SUCCESS
MAGI2	9863	.	GRCh37	7	78130909	78130909	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	56	176	0	ENST00000354212.4:c.950A>C	p.Glu317Ala	p.E317A	ENST00000354212	NM_012301.3	317	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS5594.1	950	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTTCGCCC	NONE	.	.	PROSITE_profiles:PS50020,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,PROSITE_patterns:PS01159,Pfam_domain:PF00397,Gene3D:2.20.70.10,SMART_domains:SM00456,Superfamily_domains:SSF51045	.	.	ENSP00000346151	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Glu149Ala,ENST00000536571,;MAGI2,missense_variant,p.Glu154Ala,ENST00000535697,;MAGI2,missense_variant,p.Glu317Ala,ENST00000354212,;MAGI2,missense_variant,p.Glu317Ala,ENST00000419488,;MAGI2,missense_variant,p.Glu317Ala,ENST00000522391,;	1204	176	152	SUCCESS
ABCB1	5243	.	GRCh37	7	87148681	87148681	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	10	83	0	ENST00000265724.3:c.2888T>G	p.Leu963Trp	p.L963W	ENST00000265724	NM_000927.4	963	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS5608.1	2888	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAAGTAG	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265724	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.808)	.	deleterious(0)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Leu963Trp,ENST00000265724,;ABCB1,missense_variant,p.Leu899Trp,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,non_coding_transcript_exon_variant,,ENST00000496821,;ABCB1,upstream_gene_variant,,ENST00000475929,;ABCB1,non_coding_transcript_exon_variant,,ENST00000483831,;HNRNPA1P9,upstream_gene_variant,,ENST00000450624,;	3306	83	106	SUCCESS
DLX5	1749	.	GRCh37	7	96651649	96651649	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	72	0	ENST00000222598.4:c.388G>A	p.Val130Met	p.V130M	ENST00000222598	NM_005221.5	130	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS5647.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCACCATTC	NONE	.	.	Gene3D:1.10.10.60,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF31	.	.	ENSP00000222598	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000222598	Transcript	.	.	ENSG00000105880	2918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious(0)	.	DLX5_HUMAN	DLX5	HGNC	Q53Y73_HUMAN	.	UPI00001294B7	SNV	DLX5,missense_variant,p.Val130Met,ENST00000222598,;DLX5,missense_variant,p.Val130Met,ENST00000486603,;DLX5,intron_variant,,ENST00000493764,;	862	72	61	SUCCESS
RIMS2	9699	.	GRCh37	8	104898096	104898096	+	synonymous_variant	Silent	SNP	T	T	G	rs778061023	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	78	0	ENST00000406091.3:c.1269T>G	p.Ser423=	p.S423=	ENST00000406091	NM_001100117.2	423	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS55269.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTTATGC	SITE|p.S201S|c.603T>G|10,SITE|p.S231S|c.693T>G|8,SITE|p.S231S|c.693T>G|11,SITE|p.S423S|c.1269T>G|8,CODON|p.S231S|c.693T>C|4,CODON|p.S423S|c.1269T>C|4,CODON|p.S459S|c.1377T>G|10,CODON|p.S201S|c.603T>C|4,CODON|p.S459S|c.1377T>C|4,CODON|p.S231S|c.693T>C|4	.	.	hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	4/24	.	.	.	.	.	.	.	.	rs778061023,COSM1264275,COSM51069,COSM3884368,COSM3884367,COSM290336,COSM1264274,COSM3884364,COSM1264192,COSM1264271,COSM290337,COSM3884366,COSM1264273,COSM1264193,COSM1264272,COSM3884365	4/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,synonymous_variant,p.%3D,ENST00000406091,;RIMS2,synonymous_variant,p.%3D,ENST00000408894,;RIMS2,synonymous_variant,p.%3D,ENST00000504942,;RIMS2,synonymous_variant,p.%3D,ENST00000507740,;RIMS2,synonymous_variant,p.%3D,ENST00000262231,;RIMS2,synonymous_variant,p.%3D,ENST00000515551,;RIMS2,synonymous_variant,p.%3D,ENST00000436393,;RIMS2,downstream_gene_variant,,ENST00000522174,;	1269	78	63	SUCCESS
KIAA1456	0	.	GRCh37	8	12879028	12879028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	119	0	ENST00000524591.2:c.840C>A	p.Ser280Arg	p.S280R	ENST00000524591	NM_020844.2	280	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS47808.1	840	RADIA|MUTECT|MUSE	.	AGTAGCACTGT	NONE	.	.	hmmpanther:PTHR13069,hmmpanther:PTHR13069:SF25	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.09)	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,missense_variant,p.Ser280Arg,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,non_coding_transcript_exon_variant,,ENST00000529978,;KIAA1456,downstream_gene_variant,,ENST00000529706,;	1329	119	134	SUCCESS
DMTN	2039	.	GRCh37	8	21924617	21924617	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	50	195	0	ENST00000265800.5:c.40A>G	p.Ser14Gly	p.S14G	ENST00000265800	NM_001114135.2	14	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS6020.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGAGCGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24213	.	.	ENSP00000427866	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000523266	Transcript	.	.	ENSG00000158856	3382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	DEMA_HUMAN	DMTN	HGNC	E5RJ61_HUMAN	.	UPI0000129189	SNV	DMTN,missense_variant,p.Ser14Gly,ENST00000265800,;DMTN,missense_variant,p.Ser14Gly,ENST00000381470,;DMTN,missense_variant,p.Ser14Gly,ENST00000517804,;DMTN,missense_variant,p.Ser14Gly,ENST00000415253,;DMTN,missense_variant,p.Ser14Gly,ENST00000432128,;DMTN,missense_variant,p.Ser14Gly,ENST00000519907,;DMTN,missense_variant,p.Ser14Gly,ENST00000519850,;DMTN,missense_variant,p.Ser14Gly,ENST00000523266,;DMTN,missense_variant,p.Ser14Gly,ENST00000358242,;DMTN,missense_variant,p.Ser14Gly,ENST00000517418,;DMTN,intron_variant,,ENST00000517600,;DMTN,intron_variant,,ENST00000520174,;DMTN,intron_variant,,ENST00000522148,;DMTN,intron_variant,,ENST00000443491,;DMTN,intron_variant,,ENST00000523300,;DMTN,intron_variant,,ENST00000523623,;DMTN,intron_variant,,ENST00000523782,;DMTN,missense_variant,p.Ser14Gly,ENST00000517305,;DMTN,non_coding_transcript_exon_variant,,ENST00000522340,;DMTN,non_coding_transcript_exon_variant,,ENST00000520856,;DMTN,intron_variant,,ENST00000519333,;DMTN,intron_variant,,ENST00000518816,;DMTN,downstream_gene_variant,,ENST00000519959,;	502	195	160	SUCCESS
ELP3	55140	.	GRCh37	8	28013470	28013470	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	9	165	0	ENST00000256398.8:c.1112T>C	p.Met371Thr	p.M371T	ENST00000256398	NM_018091.5	371	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS6065.1	1112	MUTECT|MUSE	.	TCCAATGCCTT	NONE	.	.	hmmpanther:PTHR11135,TIGRFAM_domain:TIGR01211,PIRSF_domain:PIRSF005669,Superfamily_domains:SSF55729	.	.	ENSP00000256398	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000256398	Transcript	.	.	ENSG00000134014	20696	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.084)	.	tolerated(0.05)	.	ELP3_HUMAN	ELP3	HGNC	E5RIZ7_HUMAN,E5RIC0_HUMAN,E5RHY2_HUMAN,E5RHR2_HUMAN,B4DKA4_HUMAN,B4DIG1_HUMAN	.	UPI000006F0B5	SNV	ELP3,missense_variant,p.Met279Thr,ENST00000380353,;ELP3,missense_variant,p.Met252Thr,ENST00000537665,;ELP3,missense_variant,p.Met357Thr,ENST00000521015,;ELP3,missense_variant,p.Met242Thr,ENST00000542181,;ELP3,missense_variant,p.Met299Thr,ENST00000524103,;ELP3,missense_variant,p.Met371Thr,ENST00000256398,;ELP3,upstream_gene_variant,,ENST00000523357,;ELP3,upstream_gene_variant,,ENST00000517975,;ELP3,non_coding_transcript_exon_variant,,ENST00000520110,;ELP3,3_prime_UTR_variant,,ENST00000523687,;ELP3,3_prime_UTR_variant,,ENST00000518112,;ELP3,3_prime_UTR_variant,,ENST00000519261,;	1489	165	171	SUCCESS
KIF13B	23303	.	GRCh37	8	28974375	28974375	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	67	246	0	ENST00000524189.1:c.3810A>G	p.Arg1270=	p.R1270=	ENST00000524189	NM_015254.3	1270	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS55217.1	3810	RADIA|MUTECT|MUSE	.	CAGATTCTCTT	BUFFER|p.I1271T|c.3812T>C|3,BUFFER|p.I1271T|c.3812T>C|3	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF338,Pfam_domain:PF12473	.	.	ENSP00000427900	.	31/40	.	.	.	.	.	.	.	.	.	31/40	PASS	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,synonymous_variant,p.%3D,ENST00000524189,;CTD-2647L4.1,intron_variant,,ENST00000523661,;	3849	246	215	SUCCESS
KIF13B	23303	.	GRCh37	8	28974384	28974384	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	71	255	0	ENST00000524189.1:c.3801A>G	p.Leu1267=	p.L1267=	ENST00000524189	NM_015254.3	1267	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS55217.1	3801	RADIA|MUTECT|MUSE	.	TTGCGTAACAC	BUFFER|p.I1271T|c.3812T>C|3,BUFFER|p.I1271T|c.3812T>C|3	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF338,Pfam_domain:PF12473	.	.	ENSP00000427900	.	31/40	.	.	.	.	.	.	.	.	.	31/40	PASS	ENST00000524189	Transcript	.	.	ENSG00000197892	14405	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KI13B_HUMAN	KIF13B	HGNC	.	.	UPI000035B257	SNV	KIF13B,synonymous_variant,p.%3D,ENST00000524189,;CTD-2647L4.1,intron_variant,,ENST00000523661,;	3840	255	230	SUCCESS
PRKDC	5591	.	GRCh37	8	48856412	48856412	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	127	0	ENST00000314191.2:c.808+1G>T		p.X270_splice	ENST00000314191	NM_006904.6	270		0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTACCTGAG	NONE	.	.	.	.	.	ENSP00000313420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	9/86	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,splice_donor_variant,,ENST00000338368,;PRKDC,splice_donor_variant,,ENST00000314191,;PRKDC,splice_donor_variant,,ENST00000518216,;PRKDC,splice_donor_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000535375,;	.	127	119	SUCCESS
PXDNL	137902	.	GRCh37	8	52323847	52323847	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	65	164	0	ENST00000356297.4:c.2025T>C	p.Arg675=	p.R675=	ENST00000356297	NM_144651.4	675	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS47855.1	2025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACACGTTC	NONE	.	.	hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475	.	.	ENSP00000348645	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,synonymous_variant,p.%3D,ENST00000543296,;PXDNL,synonymous_variant,p.%3D,ENST00000356297,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	2126	164	207	SUCCESS
RRS1	23212	.	GRCh37	8	67341483	67341483	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	68	149	0	ENST00000320270.2:c.117G>A	p.Leu39=	p.L39=	ENST00000320270	NM_015169.3	39	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6189.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGCTGGC	NONE	.	.	Pfam_domain:PF04939,hmmpanther:PTHR17602	.	.	ENSP00000322396	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320270	Transcript	.	.	ENSG00000179041	17083	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRS1_HUMAN	RRS1	HGNC	.	.	UPI0000134B8A	SNV	RRS1,synonymous_variant,p.%3D,ENST00000320270,;ADHFE1,upstream_gene_variant,,ENST00000415254,;ADHFE1,upstream_gene_variant,,ENST00000396623,;ADHFE1,upstream_gene_variant,,ENST00000379385,;ADHFE1,upstream_gene_variant,,ENST00000523113,;RP11-346I3.4,upstream_gene_variant,,ENST00000499642,;ADHFE1,upstream_gene_variant,,ENST00000496501,;ADHFE1,upstream_gene_variant,,ENST00000422166,;ADHFE1,upstream_gene_variant,,ENST00000449512,;ADHFE1,upstream_gene_variant,,ENST00000424777,;ADHFE1,upstream_gene_variant,,ENST00000466920,;ADHFE1,upstream_gene_variant,,ENST00000443372,;ADHFE1,upstream_gene_variant,,ENST00000419955,;ADHFE1,upstream_gene_variant,,ENST00000426810,;ADHFE1,upstream_gene_variant,,ENST00000276576,;ADHFE1,upstream_gene_variant,,ENST00000431959,;ADHFE1,upstream_gene_variant,,ENST00000463261,;ADHFE1,upstream_gene_variant,,ENST00000396621,;	221	149	181	SUCCESS
ARFGEF1	10565	.	GRCh37	8	68130369	68130369	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	42	183	0	ENST00000262215.3:c.4343C>T	p.Ala1448Val	p.A1448V	ENST00000262215	NM_006421.4	1448	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6199.1	4343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGCTTTC	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Superfamily_domains:SSF48371	.	.	ENSP00000262215	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000262215	Transcript	.	.	ENSG00000066777	15772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.1)	.	BIG1_HUMAN	ARFGEF1	HGNC	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN	.	UPI000013D275	SNV	ARFGEF1,missense_variant,p.Ala286Val,ENST00000518230,;ARFGEF1,missense_variant,p.Ala1448Val,ENST00000262215,;ARFGEF1,missense_variant,p.Ala902Val,ENST00000520381,;	4733	183	126	SUCCESS
LACTB2	51110	.	GRCh37	8	71581340	71581340	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	73	0	ENST00000276590.4:c.16C>T	p.Gln6Ter	p.Q6*	ENST00000276590	NM_016027.2	6	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6208.1	16	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTGCAGTA	NONE	.	.	hmmpanther:PTHR23131:SF0,hmmpanther:PTHR23131,Gene3D:3.60.15.10	.	.	ENSP00000276590	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000276590	Transcript	.	.	ENSG00000147592	18512	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LACB2_HUMAN	LACTB2	HGNC	.	.	UPI00000382DA	SNV	LACTB2,stop_gained,p.Gln6Ter,ENST00000276590,;LACTB2,stop_gained,p.Gln6Ter,ENST00000522447,;XKR9,upstream_gene_variant,,ENST00000408926,;XKR9,upstream_gene_variant,,ENST00000520030,;XKR9,upstream_gene_variant,,ENST00000519350,;XKR9,upstream_gene_variant,,ENST00000520273,;XKR9,upstream_gene_variant,,ENST00000520092,;	53	73	65	SUCCESS
INTS8	55656	.	GRCh37	8	95892461	95892461	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	85	0	ENST00000523731.1:c.2987A>C	p.Ter996SerextTer6	p.*996Sext*6	ENST00000523731	NM_017864.3	996	tAa/tCa	0	.	.	.	.	.	C	*/S	protein_coding	YES	CCDS34925.1	2987	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTAAGCAG	NONE	.	.	.	.	.	ENSP00000430338	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000523731	Transcript	.	.	ENSG00000164941	26048	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT8_HUMAN	INTS8	HGNC	E5RJL5_HUMAN,B3KRB0_HUMAN	.	UPI000023B7D0	SNV	INTS8,stop_lost,p.Ter801SerextTer6,ENST00000520526,;INTS8,stop_lost,p.Ter979SerextTer6,ENST00000447247,;INTS8,stop_lost,p.Ter996SerextTer6,ENST00000523731,;CCNE2,3_prime_UTR_variant,,ENST00000308108,;CCNE2,3_prime_UTR_variant,,ENST00000520509,;CCNE2,downstream_gene_variant,,ENST00000524224,;CCNE2,downstream_gene_variant,,ENST00000396133,;RP11-347C18.5,upstream_gene_variant,,ENST00000605911,;INTS8,3_prime_UTR_variant,,ENST00000343161,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,downstream_gene_variant,,ENST00000521155,;INTS8,downstream_gene_variant,,ENST00000523998,;	3120	85	103	SUCCESS
PTGR1	22949	.	GRCh37	9	114341085	114341086	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	TT	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	103	11	130	0	ENST00000309195.5:c.641_642insAA	p.Tyr214Ter	p.Y214*	ENST00000309195	NM_012212.3	214	tat/taAAt	0	.	.	.	.	.	TT	Y/*	protein_coding	YES	CCDS6779.1	641-642	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAAATAACA	NONE	.	.	hmmpanther:PTHR11695:SF5,hmmpanther:PTHR11695,TIGRFAM_domain:TIGR02825,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000385763	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000407693	Transcript	.	.	ENSG00000106853	18429	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTGR1_HUMAN	PTGR1	HGNC	.	.	UPI000012E24A	insertion	PTGR1,stop_gained,p.Tyr214Ter,ENST00000538962,;PTGR1,stop_gained,p.Tyr91Ter,ENST00000238248,;PTGR1,stop_gained,p.Tyr214Ter,ENST00000407693,;PTGR1,stop_gained,p.Tyr214Ter,ENST00000309195,;PTGR1,downstream_gene_variant,,ENST00000422125,;ZNF483,downstream_gene_variant,,ENST00000358151,;RP11-16L21.7,downstream_gene_variant,,ENST00000450154,;PTGR1,stop_gained,p.Tyr32Ter,ENST00000466771,;PTGR1,3_prime_UTR_variant,,ENST00000374324,;	904-905	130	114	SUCCESS
ZFP37	7539	.	GRCh37	9	115805892	115805892	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	161	0	ENST00000374227.3:c.1006C>G	p.Leu336Val	p.L336V	ENST00000374227		336	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6787.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAGGTGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF139,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000363344	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374227	Transcript	.	.	ENSG00000136866	12863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	ZFP37_HUMAN	ZFP37	HGNC	.	.	UPI000013D04B	SNV	ZFP37,missense_variant,p.Leu351Val,ENST00000553380,;ZFP37,missense_variant,p.Leu337Val,ENST00000555206,;ZFP37,missense_variant,p.Leu336Val,ENST00000374227,;	1034	161	121	SUCCESS
ZNF618	114991	.	GRCh37	9	116770657	116770657	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	115	0	ENST00000374126.5:c.674C>T	p.Ala225Val	p.A225V	ENST00000374126		225	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS48008.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCAGGTA	NONE	.	.	hmmpanther:PTHR24383:SF12,hmmpanther:PTHR24383	.	.	ENSP00000288466	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000288466	Transcript	.	.	ENSG00000157657	29416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated_low_confidence(0.48)	.	ZN618_HUMAN	ZNF618	HGNC	.	.	UPI0000D4BD81	SNV	ZNF618,missense_variant,p.Ala193Val,ENST00000288466,;ZNF618,missense_variant,p.Ala193Val,ENST00000374124,;ZNF618,missense_variant,p.Ala225Val,ENST00000374126,;ZNF618,intron_variant,,ENST00000452710,;ZNF618,splice_region_variant,,ENST00000481558,;	677	115	95	SUCCESS
CNTRL	11064	.	GRCh37	9	123922548	123922548	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	51	221	0	ENST00000238341.5:c.5057T>C	p.Val1686Ala	p.V1686A	ENST00000238341	NM_007018.4	1686	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS35118.1	5057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGTTGTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	.	.	ENSP00000362962	.	32/44	.	.	.	.	.	.	.	.	.	32/44	PASS	ENST00000373855	Transcript	.	.	ENSG00000119397	1858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,missense_variant,p.Val1686Ala,ENST00000373855,;CNTRL,missense_variant,p.Val1134Ala,ENST00000373850,;CNTRL,missense_variant,p.Val1686Ala,ENST00000238341,;CNTRL,missense_variant,p.Val131Ala,ENST00000373844,;CNTRL,downstream_gene_variant,,ENST00000373847,;CNTRL,downstream_gene_variant,,ENST00000431571,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373845,;CNTRL,non_coding_transcript_exon_variant,,ENST00000491018,;	5317	221	180	SUCCESS
GSN	2934	.	GRCh37	9	124093964	124093964	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	22	0	ENST00000373818.4:c.2179+238G>C		p.*727*	ENST00000373818	NM_000177.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6828.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGAGAAG	NONE	.	.	.	.	.	ENSP00000362924	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373818	Transcript	.	.	ENSG00000148180	4620	.	.	MODIFIER	16/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GELS_HUMAN	GSN	HGNC	Q5T0I0_HUMAN	.	UPI000012B3B4	SNV	GSN,3_prime_UTR_variant,,ENST00000373807,;GSN,intron_variant,,ENST00000373818,;GSN,intron_variant,,ENST00000373823,;GSN,intron_variant,,ENST00000373806,;GSN,intron_variant,,ENST00000341272,;GSN,intron_variant,,ENST00000449733,;GSN,intron_variant,,ENST00000394353,;GSN,intron_variant,,ENST00000545652,;GSN,intron_variant,,ENST00000436847,;GSN,intron_variant,,ENST00000412819,;GSN,intron_variant,,ENST00000373808,;GSN,intron_variant,,ENST00000477553,;GSN,downstream_gene_variant,,ENST00000373805,;	.	22	21	SUCCESS
RPL35	11224	.	GRCh37	9	127622525	127622525	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	104	0	ENST00000348462.3:c.159C>T	p.Ser53=	p.S53=	ENST00000348462	NM_007209.3	53	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6858.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATGGATTT	NONE	.	.	Superfamily_domains:SSF46561,TIGRFAM_domain:TIGR00012,Gene3D:1.10.287.310,Pfam_domain:PF00831,PROSITE_patterns:PS00579,hmmpanther:PTHR13872,HAMAP:MF_00374	.	.	ENSP00000259469	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000348462	Transcript	.	.	ENSG00000136942	10344	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL35_HUMAN	RPL35	HGNC	.	.	UPI000015A4DD	SNV	RPL35,synonymous_variant,p.%3D,ENST00000348462,;RPL35,synonymous_variant,p.%3D,ENST00000373570,;ARPC5L,upstream_gene_variant,,ENST00000353214,;WDR38,downstream_gene_variant,,ENST00000373574,;RPL35,synonymous_variant,p.%3D,ENST00000493018,;RPL35,non_coding_transcript_exon_variant,,ENST00000487431,;RPL35,downstream_gene_variant,,ENST00000495728,;	208	104	102	SUCCESS
GBGT1	26301	.	GRCh37	9	136029633	136029633	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	24	0	ENST00000372040.3:c.375C>T	p.Ile125=	p.I125=	ENST00000372040		125	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS6960.1	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGATGAA	NONE	.	.	hmmpanther:PTHR10462:SF29,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448	.	.	ENSP00000361110	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000372040	Transcript	.	.	ENSG00000148288	20460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBGT1_HUMAN	GBGT1	HGNC	J7Q0Z1_HUMAN,J7PW20_HUMAN	.	UPI000013DB02	SNV	GBGT1,missense_variant,p.Pro138Ser,ENST00000372038,;GBGT1,synonymous_variant,p.%3D,ENST00000372040,;GBGT1,synonymous_variant,p.%3D,ENST00000540636,;GBGT1,splice_region_variant,,ENST00000372043,;RALGDS,intron_variant,,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000393160,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;	687	24	23	SUCCESS
TRMT10B	158234	.	GRCh37	9	37776352	37776352	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	65	186	0	ENST00000297994.3:c.794G>C	p.Arg265Thr	p.R265T	ENST00000297994	NM_144964.2	265	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS43804.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGAAACC	NONE	.	.	Pfam_domain:PF01746,hmmpanther:PTHR13563:SF10,hmmpanther:PTHR13563,PROSITE_profiles:PS51675	.	.	ENSP00000297994	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000297994	Transcript	.	.	ENSG00000165275	26454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0)	.	TM10B_HUMAN	TRMT10B	HGNC	.	.	UPI000013E47D	SNV	TRMT10B,missense_variant,p.Arg187Thr,ENST00000377753,;TRMT10B,missense_variant,p.Arg170Thr,ENST00000377754,;TRMT10B,missense_variant,p.Arg214Thr,ENST00000537911,;TRMT10B,missense_variant,p.Arg265Thr,ENST00000297994,;EXOSC3,downstream_gene_variant,,ENST00000327304,;EXOSC3,downstream_gene_variant,,ENST00000396521,;EXOSC3,downstream_gene_variant,,ENST00000482614,;EXOSC3,downstream_gene_variant,,ENST00000490516,;EXOSC3,downstream_gene_variant,,ENST00000489414,;TRMT10B,3_prime_UTR_variant,,ENST00000488673,;TRMT10B,3_prime_UTR_variant,,ENST00000537016,;RP11-613M10.9,intron_variant,,ENST00000540557,;EXOSC3,intron_variant,,ENST00000465229,;	859	186	175	SUCCESS
TLE1	7088	.	GRCh37	9	84300807	84300807	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	57	188	0	ENST00000376499.3:c.130A>G	p.Lys44Glu	p.K44E	ENST00000376499	NM_005077.3	44	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS6661.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTTAAGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03920,hmmpanther:PTHR10814	.	.	ENSP00000365682	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,missense_variant,p.Lys44Glu,ENST00000376499,;TLE1,missense_variant,p.Lys44Glu,ENST00000418319,;TLE1,5_prime_UTR_variant,,ENST00000376472,;TLE1,5_prime_UTR_variant,,ENST00000376463,;RP11-154D17.1,upstream_gene_variant,,ENST00000437181,;	1195	189	178	SUCCESS
SPATA31D5P	347127	.	GRCh37	9	84531233	84531233	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	32	0	ENST00000527857.1:n.1255C>G		p.*419*	ENST00000527857				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTCTCATT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000527857	Transcript	.	.	ENSG00000240632	38602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31D5P	HGNC	.	.	.	SNV	SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000527857,;SPATA31D5P,non_coding_transcript_exon_variant,,ENST00000376459,;	1255	32	26	SUCCESS
WWC3	55841	.	GRCh37	X	10094158	10094158	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs995341102	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	73	102	0	ENST00000380861.4:c.1918A>G	p.Ile640Val	p.I640V	ENST00000380861	NM_015691.3	640	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS14136.1	1918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACATCCGA	NONE	.	.	hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000370242	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000380861	Transcript	.	.	ENSG00000047644	29237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.63)	.	WWC3_HUMAN	WWC3	HGNC	T2C6S4_HUMAN	.	UPI0000225CDE	SNV	WWC3,missense_variant,p.Ile640Val,ENST00000380861,;WWC3,missense_variant,p.Ile640Val,ENST00000454666,;	2309	102	111	SUCCESS
SEPT6	0	.	GRCh37	X	118827051	118827051	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	76	165	0	ENST00000343984.5:c.18A>G	p.Ile6Met	p.I6M	ENST00000343984	NM_015129.5	6	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS14584.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCTATATC	NONE	.	.	hmmpanther:PTHR18884:SF55,hmmpanther:PTHR18884	.	.	ENSP00000341524	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000343984	Transcript	.	.	ENSG00000125354	15848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.13)	.	SEPT6_HUMAN	SEPT6	HGNC	Q541S4_HUMAN	.	UPI0000001C54	SNV	SEPT6,missense_variant,p.Ile6Met,ENST00000394610,;SEPT6,missense_variant,p.Ile6Met,ENST00000489216,;SEPT6,missense_variant,p.Ile6Met,ENST00000394617,;SEPT6,missense_variant,p.Ile6Met,ENST00000354228,;SEPT6,missense_variant,p.Ile6Met,ENST00000343984,;SEPT6,missense_variant,p.Ile6Met,ENST00000360156,;SEPT6,missense_variant,p.Ile6Met,ENST00000354416,;SEPT6,upstream_gene_variant,,ENST00000394616,;SEPT6,missense_variant,p.Ile6Met,ENST00000460411,;	283	165	114	SUCCESS
VSIG4	11326	.	GRCh37	X	65242346	65242346	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs1461328745	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	41	59	0	ENST00000374737.4:c.963-4A>G		p.X321_splice	ENST00000374737	NM_001257403.1	321		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14383.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTATGGCCC	NONE	.	.	.	.	.	ENSP00000363869	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374737	Transcript	.	.	ENSG00000155659	17032	.	.	LOW	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSIG4_HUMAN	VSIG4	HGNC	.	.	UPI000006F146	SNV	VSIG4,splice_region_variant,,ENST00000412866,;VSIG4,splice_region_variant,,ENST00000374737,;VSIG4,3_prime_UTR_variant,,ENST00000455586,;VSIG4,intron_variant,,ENST00000427538,;MIR223,downstream_gene_variant,,ENST00000385204,;	.	59	60	SUCCESS
FAM133A	286499	.	GRCh37	X	92964586	92964586	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	4	56	0	ENST00000322139.4:c.168A>G	p.Lys56=	p.K56=	ENST00000322139	NM_001171111.1	56	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS14466.1	168	MUTECT|MUSE|VARSCANS	.	TCAAAAGCATT	NONE	.	.	hmmpanther:PTHR31911:SF4,hmmpanther:PTHR31911	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,synonymous_variant,p.%3D,ENST00000355813,;FAM133A,synonymous_variant,p.%3D,ENST00000538690,;FAM133A,synonymous_variant,p.%3D,ENST00000332647,;FAM133A,synonymous_variant,p.%3D,ENST00000322139,;	729	56	51	SUCCESS
WDFY4	57705	.	GRCh37	10	50108278	50108278	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	57	143	1	ENST00000325239.5:c.7450G>T	p.Glu2484Ter	p.E2484*	ENST00000325239	NM_020945.1	2484	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS44385.1	7450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGAGATC	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Pfam_domain:PF14844,Gene3D:1t77A01,Superfamily_domains:SSF50729	.	.	ENSP00000320563	.	45/61	.	.	.	.	.	.	.	.	.	45/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,stop_gained,p.Glu2484Ter,ENST00000325239,;WDFY4,stop_gained,p.Glu571Ter,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;RP11-523O18.7,intron_variant,,ENST00000430438,;	7477	144	123	SUCCESS
PRKCQ	5588	.	GRCh37	10	6540456	6540456	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	7	205	0	ENST00000263125.5:c.444C>T	p.Ala148=	p.A148=	ENST00000263125	NM_006257.3	148	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7079.1	444	MUTECT|MUSE	.	TTGATGGCACC	NONE	.	.	hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105,Superfamily_domains:SSF57889	.	.	ENSP00000263125	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,synonymous_variant,p.%3D,ENST00000397176,;PRKCQ,synonymous_variant,p.%3D,ENST00000263125,;PRKCQ,synonymous_variant,p.%3D,ENST00000539722,;	544	205	199	SUCCESS
MUC5B	727897	.	GRCh37	11	1272392	1272392	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs190661408	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	208	538	2	ENST00000529681.1:c.14282C>T	p.Thr4761Met	p.T4761M	ENST00000529681	NM_002458.2	4761	aCg/aTg	0	T:0.0005	.	.	.	.	T	T/M	protein_coding	YES	CCDS44515.2	14282	RADIA|VARSCANS	.	GACCACGTGGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	T:0	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	rs190661408	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Thr4761Met,ENST00000529681,;MUC5B,missense_variant,p.Thr4764Met,ENST00000447027,;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	14340	540	446	SUCCESS
WT1	7490	.	GRCh37	11	32414248	32414248	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	91	232	0	ENST00000332351.3:c.1303T>C	p.Ser435Pro	p.S435P	ENST00000332351	NM_024426.4	435	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS7878.2	1303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGAACGAG	BUFFER|p.R222H|c.665G>A|3,BUFFER|p.R366H|c.1097G>A|3,BUFFER|p.R366C|c.1096C>T|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000331327	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0.02)	.	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,missense_variant,p.Ser435Pro,ENST00000332351,;WT1,missense_variant,p.Ser435Pro,ENST00000448076,;WT1,missense_variant,p.Ser418Pro,ENST00000452863,;WT1,missense_variant,p.Ser223Pro,ENST00000379079,;WT1,missense_variant,p.Ser206Pro,ENST00000530998,;WT1,intron_variant,,ENST00000527882,;WT1,downstream_gene_variant,,ENST00000527775,;WT1,downstream_gene_variant,,ENST00000526685,;WT1,3_prime_UTR_variant,,ENST00000379077,;	1588	232	218	SUCCESS
CATSPER1	117144	.	GRCh37	11	65788038	65788038	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	100	0	ENST00000312106.5:c.1988T>C	p.Leu663Pro	p.L663P	ENST00000312106	NM_053054.3	663	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8127.1	1988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGAGGAAG	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32	.	.	ENSP00000309052	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000312106	Transcript	.	.	ENSG00000175294	17116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CTSR1_HUMAN	CATSPER1	HGNC	.	.	UPI000045651C	SNV	CATSPER1,missense_variant,p.Leu663Pro,ENST00000312106,;CATSPER1,intron_variant,,ENST00000529244,;	2126	100	110	SUCCESS
GPR84	53831	.	GRCh37	12	54756722	54756722	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	8	142	0	ENST00000267015.3:c.914G>A	p.Arg305Lys	p.R305K	ENST00000267015	NM_020370.2	305	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS8878.1	914	MUTECT|MUSE	.	CTCTTCTGGCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF59,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000450310	.	1/1	.	.	.	.	.	.	.	.	COSM3792782	1/1	PASS	ENST00000551809	Transcript	.	.	ENSG00000139572	4535	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.016)	.	tolerated(0.75)	1	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,missense_variant,p.Arg305Lys,ENST00000551809,;GPR84,missense_variant,p.Arg305Lys,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	1550	142	123	SUCCESS
OTOGL	283310	.	GRCh37	12	80665553	80665553	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs749194202	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	113	279	2	ENST00000547103.1:c.2617T>G	p.Ser873Ala	p.S873A	ENST00000547103		873	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	.	2617	RADIA|VARSCANS	.	CCCCATCCTCA	NONE	.	.	Superfamily_domains:SSF57567,Gene3D:2.10.25.10,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	23/58	.	.	.	.	.	.	.	.	rs749194202	23/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.894)	.	tolerated(0.55)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Ser873Ala,ENST00000458043,;OTOGL,missense_variant,p.Ser873Ala,ENST00000547103,;	2623	281	260	SUCCESS
MCF2L	23263	.	GRCh37	13	113623676	113623676	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	57	151	0	ENST00000375608.3:c.170-45401T>G		p.*57*	ENST00000375608				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45070.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCATTTTTG	NONE	.	.	.	.	.	ENSP00000440374	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000535094	Transcript	.	.	ENSG00000126217	14576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,5_prime_UTR_variant,,ENST00000535094,;MCF2L,intron_variant,,ENST00000442652,;MCF2L,intron_variant,,ENST00000375608,;MCF2L,intron_variant,,ENST00000397030,;MCF2L,intron_variant,,ENST00000375604,;RP11-120K24.3,upstream_gene_variant,,ENST00000602192,;MCF2L-AS1,upstream_gene_variant,,ENST00000446789,;	142	151	130	SUCCESS
RB1	5925	.	GRCh37	13	48953741	48953742	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	84	0	ENST00000267163.4:c.1346dup	p.Val450SerfsTer13	p.V450Sfs*13	ENST00000267163	NM_000321.2	448	-/G	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS31973.1	1344-1345	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACTTGGAGT	BUFFER|p.R445*|c.1333C>T|14,BUFFER|p.R445*|c.1333C>T|12,BUFFER|p.R451C|c.1351C>T|3	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	insertion	RB1,frameshift_variant,p.Val450SerfsTer13,ENST00000267163,;	1482-1483	84	37	SUCCESS
CKB	1152	.	GRCh37	14	103986257	103986257	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	45	0	ENST00000348956.2:c.1090G>A	p.Glu364Lys	p.E364K	ENST00000348956	NM_001823.4	364	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9981.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCATCT	NONE	.	.	PROSITE_profiles:PS51510,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931	.	.	ENSP00000299198	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000348956	Transcript	.	.	ENSG00000166165	1991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0)	.	KCRB_HUMAN	CKB	HGNC	G3V4N7_HUMAN,G3V461_HUMAN	.	UPI000012DCBA	SNV	CKB,missense_variant,p.Glu364Lys,ENST00000348956,;CKB,missense_variant,p.Glu162Lys,ENST00000553610,;CKB,downstream_gene_variant,,ENST00000557530,;CKB,downstream_gene_variant,,ENST00000553878,;CKB,downstream_gene_variant,,ENST00000555039,;CKB,3_prime_UTR_variant,,ENST00000554989,;CKB,3_prime_UTR_variant,,ENST00000553652,;CKB,non_coding_transcript_exon_variant,,ENST00000554282,;CKB,non_coding_transcript_exon_variant,,ENST00000553528,;CKB,downstream_gene_variant,,ENST00000557287,;CKB,downstream_gene_variant,,ENST00000557569,;CKB,downstream_gene_variant,,ENST00000555366,;CKB,downstream_gene_variant,,ENST00000555770,;CKB,downstream_gene_variant,,ENST00000554705,;CKB,downstream_gene_variant,,ENST00000554426,;CKB,downstream_gene_variant,,ENST00000555659,;CKB,downstream_gene_variant,,ENST00000553994,;	1448	45	39	SUCCESS
POTEG	404785	.	GRCh37	14	19563570	19563570	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	66	242	0	ENST00000547889.1:c.1055+29A>T		p.*352*	ENST00000547889				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTAATGCTA	NONE	.	.	.	.	.	ENSP00000386971	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,intron_variant,,ENST00000409832,;CTD-2311B13.5,non_coding_transcript_exon_variant,,ENST00000548748,;RNU6-1239P,upstream_gene_variant,,ENST00000391310,;POTEG,intron_variant,,ENST00000552966,;POTEG,intron_variant,,ENST00000547889,;	.	242	193	SUCCESS
KHNYN	23351	.	GRCh37	14	24901509	24901509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	6	150	0	ENST00000251343.5:c.1042C>A	p.His348Asn	p.H348N	ENST00000251343		348	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS32058.1	1042	MUTECT|MUSE	.	GGCTCCACAAT	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28	.	.	ENSP00000251343	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000251343	Transcript	.	.	ENSG00000100441	20166	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.322)	.	tolerated(0.16)	.	KHNYN_HUMAN	KHNYN	HGNC	G3V3G3_HUMAN,G3V331_HUMAN	.	UPI000000CC1F	SNV	KHNYN,missense_variant,p.His348Asn,ENST00000251343,;KHNYN,missense_variant,p.His348Asn,ENST00000556842,;KHNYN,missense_variant,p.His348Asn,ENST00000553935,;CBLN3,upstream_gene_variant,,ENST00000555436,;CBLN3,upstream_gene_variant,,ENST00000267406,;KHNYN,upstream_gene_variant,,ENST00000554268,;KHNYN,downstream_gene_variant,,ENST00000556510,;KHNYN,upstream_gene_variant,,ENST00000556255,;	1181	150	125	SUCCESS
IGDCC4	57722	.	GRCh37	15	65680865	65680865	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	89	0	ENST00000352385.2:c.2767A>T	p.Met923Leu	p.M923L	ENST00000352385	NM_020962.1	923	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS10206.1	2767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCATCTTGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000319623	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.267)	.	tolerated(0.13)	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,missense_variant,p.Met923Leu,ENST00000352385,;IGDCC4,upstream_gene_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,upstream_gene_variant,,ENST00000560319,;IGDCC4,upstream_gene_variant,,ENST00000561309,;	2977	89	71	SUCCESS
CACNA1H	8912	.	GRCh37	16	1263800	1263800	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	31	0	ENST00000348261.5:c.4798T>C	p.Tyr1600His	p.Y1600H	ENST00000348261	NM_021098.2	1600	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS45375.1	4798	RADIA|MUTECT|MUSE|VARSCANS	.	CCTACTATGCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	27/35	.	.	.	.	.	.	.	.	.	27/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.Tyr336His,ENST00000562079,;CACNA1H,missense_variant,p.Tyr1600His,ENST00000348261,;CACNA1H,missense_variant,p.Tyr342His,ENST00000564231,;CACNA1H,missense_variant,p.Tyr1594His,ENST00000565831,;CACNA1H,missense_variant,p.Tyr1594His,ENST00000358590,;CACNA1H,missense_variant,p.Tyr144His,ENST00000564927,;CACNA1H,missense_variant,p.Tyr347His,ENST00000569107,;CACNA1H,downstream_gene_variant,,ENST00000569953,;	5046	31	20	SUCCESS
ZNF263	10127	.	GRCh37	16	3335687	3335687	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1167040483	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	25	121	0	ENST00000219069.5:c.575C>G	p.Ser192Cys	p.S192C	ENST00000219069	NM_005741.4	192	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS10499.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATCTGCTC	NONE	.	.	hmmpanther:PTHR23226:SF50,hmmpanther:PTHR23226	.	.	ENSP00000219069	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000219069	Transcript	.	.	ENSG00000006194	13056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.11)	.	ZN263_HUMAN	ZNF263	HGNC	B4DI05_HUMAN	.	UPI000013C33A	SNV	ZNF263,missense_variant,p.Leu132Val,ENST00000573578,;ZNF263,missense_variant,p.Ser192Cys,ENST00000219069,;ZNF263,intron_variant,,ENST00000572748,;ZNF263,intron_variant,,ENST00000538765,;ZNF263,intron_variant,,ENST00000574253,;ZNF263,intron_variant,,ENST00000575823,;ZNF263,upstream_gene_variant,,ENST00000574674,;ZNF263,upstream_gene_variant,,ENST00000575332,;	1451	121	126	SUCCESS
SMG6	23293	.	GRCh37	17	2203672	2203672	+	synonymous_variant	Silent	SNP	A	A	G	rs767969910	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	13	30	0	ENST00000263073.6:c.375T>C	p.Ala125=	p.A125=	ENST00000263073	NM_017575.4	125	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS11016.1	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAGCAGT	NONE	.	.	hmmpanther:PTHR13548:SF1,hmmpanther:PTHR13548	.	.	ENSP00000263073	.	2/19	.	.	.	.	.	.	.	.	rs767969910	2/19	PASS	ENST00000263073	Transcript	.	.	ENSG00000070366	17809	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EST1A_HUMAN	SMG6	HGNC	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN	.	UPI00002005C8	SNV	SMG6,synonymous_variant,p.%3D,ENST00000544865,;SMG6,synonymous_variant,p.%3D,ENST00000263073,;SRR,upstream_gene_variant,,ENST00000576620,;SRR,upstream_gene_variant,,ENST00000575840,;SRR,upstream_gene_variant,,ENST00000576848,;SRR,upstream_gene_variant,,ENST00000344595,;SRR,upstream_gene_variant,,ENST00000574987,;SRR,upstream_gene_variant,,ENST00000572709,;	426	30	15	SUCCESS
ABI3	51225	.	GRCh37	17	47299493	47299493	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	118	1	ENST00000225941.1:c.843A>T	p.Pro281=	p.P281=	ENST00000225941	NM_016428.2	281	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11546.1	843	MUTECT|MUSE	.	CCTCCACCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10460:SF6,hmmpanther:PTHR10460	.	.	ENSP00000225941	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000225941	Transcript	.	.	ENSG00000108798	29859	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABI3_HUMAN	ABI3	HGNC	.	.	UPI000013C888	SNV	ABI3,synonymous_variant,p.%3D,ENST00000419580,;ABI3,synonymous_variant,p.%3D,ENST00000225941,;ABI3,synonymous_variant,p.%3D,ENST00000571035,;ABI3,synonymous_variant,p.%3D,ENST00000573347,;PHOSPHO1,downstream_gene_variant,,ENST00000574638,;PHOSPHO1,downstream_gene_variant,,ENST00000503902,;PHOSPHO1,downstream_gene_variant,,ENST00000413580,;PHOSPHO1,downstream_gene_variant,,ENST00000514112,;PHOSPHO1,downstream_gene_variant,,ENST00000512250,;PHOSPHO1,downstream_gene_variant,,ENST00000511066,;PHOSPHO1,downstream_gene_variant,,ENST00000310544,;	1341	119	96	SUCCESS
QRICH2	84074	.	GRCh37	17	74277942	74277942	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	74	84	0	ENST00000262765.5:c.3765+3G>A		p.X1255_splice	ENST00000262765	NM_032134.1	1255		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32741.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCACCTG	NONE	.	.	.	.	.	ENSP00000262765	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262765	Transcript	.	.	ENSG00000129646	25326	.	.	LOW	8/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,splice_region_variant,,ENST00000447564,;QRICH2,splice_region_variant,,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000532549,;QRICH2,splice_region_variant,,ENST00000524722,;	.	84	117	SUCCESS
DTNA	1837	.	GRCh37	18	32418068	32418068	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	100	0	ENST00000399113.3:c.1106del	p.Lys369ArgfsTer5	p.K369Rfs*5	ENST00000399113		369	Aag/ag	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS59312.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCCCAAGGAC	NONE	.	.	.	.	.	ENSP00000470152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000598334	Transcript	.	.	ENSG00000134769	3057	1	.	MODIFIER	11/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	DTNA	HGNC	M0QYX6_HUMAN,K7ERZ2_HUMAN,K7ERH7_HUMAN,K7ER73_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN	.	UPI0001E92A2F	deletion	DTNA,frameshift_variant,p.Lys369ArgfsTer5,ENST00000399113,;DTNA,frameshift_variant,p.Lys366ArgfsTer5,ENST00000348997,;DTNA,frameshift_variant,p.Lys369ArgfsTer5,ENST00000444659,;DTNA,frameshift_variant,p.Lys370ArgfsTer5,ENST00000269190,;DTNA,frameshift_variant,p.Lys369ArgfsTer5,ENST00000269191,;DTNA,frameshift_variant,p.Lys48ArgfsTer5,ENST00000591182,;DTNA,frameshift_variant,p.Lys78ArgfsTer5,ENST00000269192,;DTNA,frameshift_variant,p.Lys48ArgfsTer5,ENST00000399097,;DTNA,intron_variant,,ENST00000598334,;DTNA,intron_variant,,ENST00000598774,;DTNA,intron_variant,,ENST00000597599,;DTNA,intron_variant,,ENST00000587723,;DTNA,intron_variant,,ENST00000597674,;DTNA,intron_variant,,ENST00000399121,;DTNA,intron_variant,,ENST00000556414,;DTNA,intron_variant,,ENST00000596745,;DTNA,intron_variant,,ENST00000598142,;DTNA,intron_variant,,ENST00000599844,;DTNA,intron_variant,,ENST00000595022,;DTNA,intron_variant,,ENST00000601125,;DTNA,intron_variant,,ENST00000283365,;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;DTNA,intron_variant,,ENST00000601895,;	.	100	101	SUCCESS
C19orf43	0	.	GRCh37	19	12845284	12845284	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	23	0	ENST00000242784.4:c.188G>A	p.Gly63Asp	p.G63D	ENST00000242784	NM_024038.2	63	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12279.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGCTGCCGTCG	NONE	.	.	.	.	.	ENSP00000242784	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000242784	Transcript	.	.	ENSG00000123144	28424	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.478)	.	tolerated(0.05)	.	CS043_HUMAN	C19orf43	HGNC	.	.	UPI00000701FA	SNV	C19orf43,missense_variant,p.Gly63Asp,ENST00000242784,;C19orf43,missense_variant,p.Gly63Asp,ENST00000592273,;C19orf43,missense_variant,p.Gly63Asp,ENST00000588213,;ASNA1,upstream_gene_variant,,ENST00000591090,;ASNA1,upstream_gene_variant,,ENST00000357332,;ASNA1,upstream_gene_variant,,ENST00000586561,;C19orf43,missense_variant,p.Gly63Asp,ENST00000591254,;ASNA1,upstream_gene_variant,,ENST00000590633,;C19orf43,upstream_gene_variant,,ENST00000589590,;	306	23	18	SUCCESS
USE1	55850	.	GRCh37	19	17330476	17330476	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs758485602	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	8	131	0	ENST00000263897.5:c.634C>G	p.Leu212Val	p.L212V	ENST00000263897	NM_018467.3	212	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS46011.1	634	MUTECT|MUSE	.	AGAACCTGGAG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13050,Pfam_domain:PF09753	.	.	ENSP00000263897	.	8/8	.	.	.	.	.	.	.	.	rs758485602	8/8	PASS	ENST00000263897	Transcript	.	.	ENSG00000053501	30882	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.292)	.	tolerated(0.06)	.	USE1_HUMAN	USE1	HGNC	M0QYT5_HUMAN	.	UPI000013F66C	SNV	USE1,missense_variant,p.Leu212Val,ENST00000263897,;USE1,missense_variant,p.Leu212Val,ENST00000445667,;USE1,3_prime_UTR_variant,,ENST00000379776,;USE1,3_prime_UTR_variant,,ENST00000596136,;USE1,downstream_gene_variant,,ENST00000593597,;USE1,downstream_gene_variant,,ENST00000595101,;USE1,3_prime_UTR_variant,,ENST00000594724,;USE1,3_prime_UTR_variant,,ENST00000600970,;USE1,downstream_gene_variant,,ENST00000594399,;USE1,downstream_gene_variant,,ENST00000601662,;USE1,downstream_gene_variant,,ENST00000601592,;	681	131	138	SUCCESS
TMEM161A	54929	.	GRCh37	19	19245614	19245614	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs143085909	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	52	0	ENST00000162044.9:c.86G>C	p.Arg29Pro	p.R29P	ENST00000162044	NM_017814.2	29	cGc/cCc	0	A:0.0002	A:0	.	A:0	.	G	R/P	protein_coding	YES	CCDS12393.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCGCGCG	NONE	byCluster|by1000G	.	Pfam_domain:PF10268,hmmpanther:PTHR13624:SF4,hmmpanther:PTHR13624	A:0	A:0	ENSP00000162044	A:0.001	2/12	.	.	.	.	.	.	.	.	rs143085909	2/12	PASS	ENST00000162044	Transcript	.	A:0.0002	ENSG00000064545	26020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	T161A_HUMAN	TMEM161A	HGNC	K7EQE7_HUMAN,K7EQ34_HUMAN	.	UPI00000373EF	SNV	TMEM161A,missense_variant,p.Arg29Pro,ENST00000162044,;TMEM161A,missense_variant,p.Arg29Pro,ENST00000587583,;TMEM161A,missense_variant,p.Arg29Pro,ENST00000450333,;TMEM161A,missense_variant,p.Arg12Pro,ENST00000587915,;TMEM161A,missense_variant,p.Arg12Pro,ENST00000587096,;TMEM161A,intron_variant,,ENST00000592369,;TMEM161A,upstream_gene_variant,,ENST00000587925,;TMEM161A,intron_variant,,ENST00000592147,;TMEM161A,missense_variant,p.Arg29Pro,ENST00000590216,;TMEM161A,missense_variant,p.Arg29Pro,ENST00000587985,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000587406,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000586357,;TMEM161A,intron_variant,,ENST00000589448,;TMEM161A,upstream_gene_variant,,ENST00000591031,;	151	52	49	SUCCESS
CERS4	79603	.	GRCh37	19	8321909	8321909	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749213804	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	17	182	0	ENST00000251363.5:c.689G>A	p.Arg230His	p.R230H	ENST00000251363	NM_024552.2	230	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12197.1	689	MUTECT|MUSE|VARSCANS	.	GCTGCGCATTG	NONE	byFrequency	.	PROSITE_profiles:PS50922,hmmpanther:PTHR12560:SF6,hmmpanther:PTHR12560,Pfam_domain:PF03798,SMART_domains:SM00724,PIRSF_domain:PIRSF005225	.	.	ENSP00000251363	.	9/12	.	.	.	.	.	.	.	.	rs749213804	9/12	PASS	ENST00000251363	Transcript	.	.	ENSG00000090661	23747	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.749)	.	tolerated(0.06)	.	CERS4_HUMAN	CERS4	HGNC	H0YNR6_HUMAN,H0YMY6_HUMAN,H0YLY3_HUMAN,H0YKS3_HUMAN,H0YKR4_HUMAN,H0YKC9_HUMAN	.	UPI000013CCFB	SNV	CERS4,missense_variant,p.Arg230His,ENST00000559450,;CERS4,missense_variant,p.Arg179His,ENST00000558331,;CERS4,missense_variant,p.Arg230His,ENST00000251363,;CERS4,missense_variant,p.Arg230His,ENST00000559336,;CERS4,downstream_gene_variant,,ENST00000558268,;CERS4,downstream_gene_variant,,ENST00000561053,;CERS4,downstream_gene_variant,,ENST00000561008,;CERS4,downstream_gene_variant,,ENST00000558877,;CERS4,non_coding_transcript_exon_variant,,ENST00000595722,;CERS4,upstream_gene_variant,,ENST00000558302,;CERS4,non_coding_transcript_exon_variant,,ENST00000558501,;CERS4,non_coding_transcript_exon_variant,,ENST00000557925,;CERS4,upstream_gene_variant,,ENST00000599275,;	989	182	182	SUCCESS
DDX11L1	100287102	.	GRCh37	1	13501	13501	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs780232535	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	28	2	ENST00000456328.2:n.749G>A		p.*250*	ENST00000456328				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|VARSCANS	.	TGCCTGGCGCT	NONE	byFrequency	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	rs780232535	3/3	PASS	ENST00000456328	Transcript	.	.	ENSG00000223972	37102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DDX11L1	HGNC	.	.	.	SNV	DDX11L1,non_coding_transcript_exon_variant,,ENST00000456328,;DDX11L1,non_coding_transcript_exon_variant,,ENST00000450305,;DDX11L1,non_coding_transcript_exon_variant,,ENST00000515242,;DDX11L1,non_coding_transcript_exon_variant,,ENST00000518655,;WASH7P,downstream_gene_variant,,ENST00000488147,;WASH7P,downstream_gene_variant,,ENST00000541675,;WASH7P,downstream_gene_variant,,ENST00000538476,;WASH7P,downstream_gene_variant,,ENST00000438504,;WASH7P,downstream_gene_variant,,ENST00000423562,;	749	30	29	SUCCESS
TCHH	7062	.	GRCh37	1	152081138	152081138	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs189687085	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	23	69	1	ENST00000368804.1:c.4555G>C	p.Glu1519Gln	p.E1519Q	ENST00000368804	NM_007113.3	1519	Gag/Cag	0	T:0.0011	T:0.003	.	T:0	.	G	E/Q	protein_coding	YES	CCDS41396.1	4555	RADIA|MUTECT|MUSE	.	CTCCTCGAGGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	T:0	T:0	ENSP00000357794	T:0	2/2	.	.	.	.	.	.	.	.	rs189687085,COSM675412	2/2	PASS	ENST00000368804	Transcript	.	T:0.0008	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	unknown(0)	T:0	.	0,1	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Glu1519Gln,ENST00000368804,;	4555	70	111	SUCCESS
TPX2	22974	.	GRCh37	20	30365347	30365347	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs527354467	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	62	152	0	ENST00000300403.6:c.788G>T	p.Arg263Leu	p.R263L	ENST00000300403	NM_012112.4	263	cGc/cTc	0	.	A:0.0008	.	A:0	.	T	R/L	protein_coding	YES	CCDS13190.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGCACAG	NONE	by1000G	.	hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9	A:0	.	ENSP00000300403	A:0	9/18	.	.	.	.	.	.	.	.	rs527354467	9/18	PASS	ENST00000300403	Transcript	.	A:0.0002	ENSG00000088325	1249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated(0.65)	.	TPX2_HUMAN	TPX2	HGNC	Q96FC3_HUMAN,Q643R0_HUMAN,B3KM90_HUMAN	.	UPI00000015BB	SNV	TPX2,missense_variant,p.Arg263Leu,ENST00000300403,;TPX2,missense_variant,p.Arg263Leu,ENST00000340513,;	1316	152	139	SUCCESS
PTPRT	11122	.	GRCh37	20	40730794	40730795	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GA	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	109	54	149	0	ENST00000373198.4:c.3739_3740dup	p.Ser1248ProfsTer9	p.S1248Pfs*9	ENST00000373198	NM_133170.3	1247	tcc/tcTCc	0	.	.	.	.	.	GA	S/SX	protein_coding	YES	CCDS42874.1	3683-3684	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCTGGATTC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000362283	.	26/31	.	.	.	.	.	.	.	.	.	26/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	insertion	PTPRT,frameshift_variant,p.Ser1219ProfsTer9,ENST00000373201,;PTPRT,frameshift_variant,p.Ser1238ProfsTer9,ENST00000356100,;PTPRT,frameshift_variant,p.Ser1248ProfsTer9,ENST00000373198,;PTPRT,frameshift_variant,p.Ser1232ProfsTer9,ENST00000373193,;PTPRT,frameshift_variant,p.Ser1239ProfsTer9,ENST00000373184,;PTPRT,frameshift_variant,p.Ser1228ProfsTer9,ENST00000373190,;PTPRT,frameshift_variant,p.Ser1229ProfsTer9,ENST00000373187,;	3683-3684	149	163	SUCCESS
PCBP3	54039	.	GRCh37	21	47330914	47330914	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs774328273	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	82	0	ENST00000400314.1:c.570C>A	p.Cys190Ter	p.C190*	ENST00000400314		190	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS42974.2	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGCGTCAA	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Gene3D:3.30.1370.10,Pfam_domain:PF00013,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF98,PROSITE_profiles:PS50084	.	.	ENSP00000383168	.	9/16	.	.	.	.	.	.	.	.	rs774328273	9/16	PASS	ENST00000400314	Transcript	.	.	ENSG00000183570	8651	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCBP3_HUMAN	PCBP3	HGNC	.	.	UPI00005989D5	SNV	PCBP3,stop_gained,p.Cys190Ter,ENST00000400310,;PCBP3,stop_gained,p.Cys190Ter,ENST00000400314,;PCBP3,stop_gained,p.Cys166Ter,ENST00000400305,;PCBP3,stop_gained,p.Cys190Ter,ENST00000449640,;PCBP3,stop_gained,p.Cys190Ter,ENST00000400309,;PCBP3,stop_gained,p.Cys158Ter,ENST00000400304,;PCBP3,stop_gained,p.Cys190Ter,ENST00000400308,;PCBP3,non_coding_transcript_exon_variant,,ENST00000468429,;PCBP3,upstream_gene_variant,,ENST00000475402,;	908	82	64	SUCCESS
CWC22	57703	.	GRCh37	2	180815590	180815590	+	synonymous_variant	Silent	SNP	G	G	A	rs1379374023	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	42	0	ENST00000410053.3:c.1881C>T	p.Ala627=	p.A627=	ENST00000410053	NM_020943.2	627	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46465.1	1881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGGCAAA	NONE	.	.	hmmpanther:PTHR18034:SF3,hmmpanther:PTHR18034	.	.	ENSP00000387006	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000410053	Transcript	.	.	ENSG00000163510	29322	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CWC22_HUMAN	CWC22	HGNC	B7WP74_HUMAN	.	UPI00001C1DAE	SNV	CWC22,synonymous_variant,p.%3D,ENST00000404136,;CWC22,synonymous_variant,p.%3D,ENST00000410053,;CWC22,synonymous_variant,p.%3D,ENST00000295749,;	2181	42	29	SUCCESS
EGR4	1961	.	GRCh37	2	73519468	73519468	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	17	0	ENST00000545030.1:c.887C>T	p.Pro296Leu	p.P296L	ENST00000545030	NM_001965.3	296	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1925.2	887	MUTECT|MUSE	.	GCGCTGGCGAG	NONE	.	.	hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF1	.	.	ENSP00000445626	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000545030	Transcript	.	.	ENSG00000135625	3241	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EGR4_HUMAN	EGR4	HGNC	B7ZKU3_HUMAN	.	UPI0000EE25D4	SNV	EGR4,missense_variant,p.Pro296Leu,ENST00000545030,;EGR4,missense_variant,p.Pro193Leu,ENST00000436467,;	962	17	24	SUCCESS
MAATS1	0	.	GRCh37	3	119425666	119425666	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	107	0	ENST00000273390.5:c.135T>C	p.Phe45=	p.F45=	ENST00000273390	NM_033364.3	45	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS2994.1	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTTATTGT	NONE	.	.	hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455	.	.	ENSP00000273390	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000273390	Transcript	.	.	ENSG00000183833	24010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAAT1_HUMAN	MAATS1	HGNC	.	.	UPI00001C1DFE	SNV	MAATS1,synonymous_variant,p.%3D,ENST00000463700,;MAATS1,synonymous_variant,p.%3D,ENST00000273390,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,non_coding_transcript_exon_variant,,ENST00000468630,;MAATS1,non_coding_transcript_exon_variant,,ENST00000488533,;MAATS1,non_coding_transcript_exon_variant,,ENST00000483134,;MAATS1,non_coding_transcript_exon_variant,,ENST00000469659,;MAATS1,intron_variant,,ENST00000482573,;MAATS1,intron_variant,,ENST00000475093,;MAATS1,upstream_gene_variant,,ENST00000498167,;	212	107	81	SUCCESS
APEH	327	.	GRCh37	3	49719195	49719195	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	19	166	0	ENST00000296456.5:c.1479C>T	p.Ser493=	p.S493=	ENST00000296456	NM_001640.3	493	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS2801.1	1479	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCCTCC	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF108,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000296456	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000296456	Transcript	.	.	ENSG00000164062	586	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACPH_HUMAN	APEH	HGNC	C9JLK2_HUMAN	.	UPI00000735A1	SNV	APEH,synonymous_variant,p.%3D,ENST00000296456,;APEH,synonymous_variant,p.%3D,ENST00000438011,;APEH,downstream_gene_variant,,ENST00000449966,;APEH,downstream_gene_variant,,ENST00000457042,;MST1,downstream_gene_variant,,ENST00000448220,;APEH,downstream_gene_variant,,ENST00000442186,;MST1,downstream_gene_variant,,ENST00000449682,;MST1,downstream_gene_variant,,ENST00000383728,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000494828,;APEH,3_prime_UTR_variant,,ENST00000469362,;MST1,downstream_gene_variant,,ENST00000494809,;MST1,downstream_gene_variant,,ENST00000488350,;APEH,downstream_gene_variant,,ENST00000446089,;APEH,upstream_gene_variant,,ENST00000480772,;MST1,downstream_gene_variant,,ENST00000484144,;MST1,downstream_gene_variant,,ENST00000492370,;APEH,downstream_gene_variant,,ENST00000447436,;AC099668.5,downstream_gene_variant,,ENST00000563780,;APEH,downstream_gene_variant,,ENST00000463995,;MST1,downstream_gene_variant,,ENST00000498021,;MST1,downstream_gene_variant,,ENST00000479115,;MST1,downstream_gene_variant,,ENST00000484269,;MST1,downstream_gene_variant,,ENST00000489007,;MST1,downstream_gene_variant,,ENST00000497359,;APEH,downstream_gene_variant,,ENST00000447541,;MST1,downstream_gene_variant,,ENST00000481930,;MST1,downstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,downstream_gene_variant,,ENST00000493836,;MST1,downstream_gene_variant,,ENST00000480268,;MST1,downstream_gene_variant,,ENST00000492329,;APEH,downstream_gene_variant,,ENST00000482301,;	1879	166	150	SUCCESS
AMIGO3	386724	.	GRCh37	3	49757062	49757062	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	59	0	ENST00000320431.7:c.-164A>G		p.*55*	ENST00000320431	NM_198722.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33759.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTTGTGA	NONE	.	.	.	.	.	ENSP00000439268	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000535833	Transcript	.	.	ENSG00000176020	24075	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMGO3_HUMAN	AMIGO3	HGNC	.	.	UPI00000622D6	SNV	AMIGO3,5_prime_UTR_variant,,ENST00000535833,;AMIGO3,5_prime_UTR_variant,,ENST00000320431,;GMPPB,3_prime_UTR_variant,,ENST00000480687,;RNF123,intron_variant,,ENST00000327697,;RNF123,intron_variant,,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,;IP6K1,downstream_gene_variant,,ENST00000321599,;IP6K1,downstream_gene_variant,,ENST00000395238,;GMPPB,downstream_gene_variant,,ENST00000308388,;RNF123,intron_variant,,ENST00000497099,;RNF123,intron_variant,,ENST00000486102,;RNF123,intron_variant,,ENST00000487805,;RNF123,intron_variant,,ENST00000457726,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000444689,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,upstream_gene_variant,,ENST00000498376,;RNF123,downstream_gene_variant,,ENST00000469978,;	3288	59	31	SUCCESS
STOX2	56977	.	GRCh37	4	184931282	184931282	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780335931	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	95	0	ENST00000308497.4:c.1291G>A	p.Glu431Lys	p.E431K	ENST00000308497	NM_020225.1	431	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47167.1	1291	MUTECT|MUSE	.	TGCTCGAGTCC	NONE	.	.	hmmpanther:PTHR22437:SF2,hmmpanther:PTHR22437	.	.	ENSP00000311257	.	3/4	.	.	.	.	.	.	.	.	rs780335931,COSM3940825,COSM3940824	3/4	PASS	ENST00000308497	Transcript	.	.	ENSG00000173320	25450	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.94)	.	deleterious(0.04)	0,1,1	STOX2_HUMAN	STOX2	HGNC	D6RDA5_HUMAN	.	UPI00001C1E11	SNV	STOX2,missense_variant,p.Glu431Lys,ENST00000438269,;STOX2,missense_variant,p.Glu431Lys,ENST00000308497,;STOX2,intron_variant,,ENST00000513034,;STOX2,downstream_gene_variant,,ENST00000512520,;STOX2,upstream_gene_variant,,ENST00000506529,;	2726	95	56	SUCCESS
CLOCK	9575	.	GRCh37	4	56345032	56345032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	93	0	ENST00000309964.4:c.206A>T	p.Asp69Val	p.D69V	ENST00000309964	NM_004898.3	69	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3500.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGTCCATC	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR23042:SF2,hmmpanther:PTHR23042,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000308741	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000309964	Transcript	.	.	ENSG00000134852	2082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	deleterious(0)	.	CLOCK_HUMAN	CLOCK	HGNC	C9JK03_HUMAN	.	UPI0000031303	SNV	CLOCK,missense_variant,p.Asp69Val,ENST00000513440,;CLOCK,missense_variant,p.Asp69Val,ENST00000435527,;CLOCK,missense_variant,p.Asp69Val,ENST00000381322,;CLOCK,missense_variant,p.Asp69Val,ENST00000309964,;CLOCK,non_coding_transcript_exon_variant,,ENST00000506923,;CLOCK,downstream_gene_variant,,ENST00000509151,;CLOCK,non_coding_transcript_exon_variant,,ENST00000508049,;CLOCK,non_coding_transcript_exon_variant,,ENST00000506747,;	457	93	93	SUCCESS
AASDH	132949	.	GRCh37	4	57215517	57215517	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs780586323	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	141	0	ENST00000205214.6:c.2400C>A	p.Tyr800Ter	p.Y800*	ENST00000205214	NM_181806.2	800	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS3504.1	2400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGTAAAA	NONE	byFrequency	.	Superfamily_domains:SSF50998,SMART_domains:SM00564,Pfam_domain:PF13360,Gene3D:2.140.10.10,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	11/15	.	.	.	.	.	.	.	.	rs780586323	11/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,stop_gained,p.Tyr315Ter,ENST00000434343,;AASDH,stop_gained,p.Tyr647Ter,ENST00000602986,;AASDH,stop_gained,p.Tyr800Ter,ENST00000451613,;AASDH,stop_gained,p.Tyr800Ter,ENST00000205214,;AASDH,stop_gained,p.Tyr800Ter,ENST00000502617,;AASDH,stop_gained,p.Tyr700Ter,ENST00000513376,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,3_prime_UTR_variant,,ENST00000514745,;	2581	141	111	SUCCESS
UGT2B4	7363	.	GRCh37	4	70361558	70361580	+	start_lost,5_prime_UTR_variant	Translation_Start_Site	DEL	CTGAAGTCCATTTCATAGACATC	CTGAAGTCCATTTCATAGACATC	-	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	CTGAAGTCCATTTCATAGACATC	CTGAAGTCCATTTCATAGACATC	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	70	0	ENST00000305107.6:c.-1_22del		p.*1*	ENST00000305107	NM_021139.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43234.1	?-22	VARSCANI*|PINDEL	.	GAAGAGCTGAAGTCCATTTCATAGACATCCTGAT	NONE	.	.	.	.	.	ENSP00000305221	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	deletion	UGT2B4,coding_sequence_variant,,ENST00000510114,;UGT2B4,coding_sequence_variant,,ENST00000305107,;UGT2B4,coding_sequence_variant,,ENST00000512583,;UGT2B4,intron_variant,,ENST00000381096,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;UGT2B4,intron_variant,,ENST00000502655,;	47-69	70	60	SUCCESS
PTPN13	5783	.	GRCh37	4	87622910	87622910	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754917946	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	103	0	ENST00000411767.2:c.1151G>T	p.Arg384Ile	p.R384I	ENST00000411767		384	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS47093.1	1151	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGACAAA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	7/48	.	.	.	.	.	.	.	.	rs754917946	7/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Arg384Ile,ENST00000411767,;PTPN13,missense_variant,p.Arg384Ile,ENST00000436978,;PTPN13,missense_variant,p.Arg384Ile,ENST00000316707,;PTPN13,missense_variant,p.Arg384Ile,ENST00000511467,;PTPN13,missense_variant,p.Arg384Ile,ENST00000427191,;	1631	103	55	SUCCESS
ANXA6	309	.	GRCh37	5	150483246	150483246	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	75	0	ENST00000354546.5:c.1847del	p.Gly616AlafsTer7	p.G616Afs*7	ENST00000354546	NM_001155.4	616	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS47315.1	1847	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGTGCCAGCA	NONE	.	.	Superfamily_domains:SSF47874,SMART_domains:SM00335,Gene3D:1.10.220.10,Pfam_domain:PF00191,PROSITE_patterns:PS00223	.	.	ENSP00000346550	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000354546	Transcript	.	.	ENSG00000197043	544	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANXA6_HUMAN	ANXA6	HGNC	E5RK63_HUMAN,E5RJR0_HUMAN,E5RJF5_HUMAN,B7Z582_HUMAN	.	UPI000013CB37	deletion	ANXA6,frameshift_variant,p.Gly616AlafsTer7,ENST00000354546,;ANXA6,frameshift_variant,p.Gly610AlafsTer7,ENST00000356496,;ANXA6,frameshift_variant,p.Gly13AlafsTer7,ENST00000522664,;ANXA6,frameshift_variant,p.Gly109AlafsTer7,ENST00000517486,;ANXA6,frameshift_variant,p.Gly273AlafsTer7,ENST00000377751,;ANXA6,frameshift_variant,p.Gly403AlafsTer7,ENST00000521512,;ANXA6,frameshift_variant,p.Gly584AlafsTer7,ENST00000523714,;	2075	75	64	SUCCESS
SKIV2L2	0	.	GRCh37	5	54624616	54624616	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	72	0	ENST00000230640.5:c.492A>C	p.Ser164=	p.S164=	ENST00000230640	NM_015360.4	164	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3967.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCAGCGGG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Gene3D:3.40.50.300,Pfam_domain:PF00270,PIRSF_domain:PIRSF005198,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000230640	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000230640	Transcript	.	.	ENSG00000039123	18734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SK2L2_HUMAN	SKIV2L2	HGNC	.	.	UPI000020C772	SNV	SKIV2L2,synonymous_variant,p.%3D,ENST00000230640,;SKIV2L2,synonymous_variant,p.%3D,ENST00000545714,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000503165,;SKIV2L2,intron_variant,,ENST00000504997,;SKIV2L2,downstream_gene_variant,,ENST00000504388,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,intron_variant,,ENST00000502953,;SKIV2L2,intron_variant,,ENST00000505565,;	746	72	59	SUCCESS
DEK	7913	.	GRCh37	6	18249918	18249918	+	synonymous_variant	Silent	SNP	C	C	T	rs1021251992	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	53	0	ENST00000397239.3:c.726G>A	p.Glu242=	p.E242=	ENST00000397239	NM_003472.3	242	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34344.1	726	MUTECT|MUSE	.	GAAGACTCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13468	.	.	ENSP00000380414	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000397239	Transcript	.	.	ENSG00000124795	2768	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEK_HUMAN	DEK	HGNC	D6RDA2_HUMAN	.	UPI0000001C2C	SNV	DEK,synonymous_variant,p.%3D,ENST00000397239,;DEK,synonymous_variant,p.%3D,ENST00000507591,;DEK,synonymous_variant,p.%3D,ENST00000244776,;DEK,synonymous_variant,p.%3D,ENST00000515770,;DEK,synonymous_variant,p.%3D,ENST00000505224,;DEK,non_coding_transcript_exon_variant,,ENST00000512145,;	1174	53	101	SUCCESS
ZCWPW1	55063	.	GRCh37	7	100004329	100004329	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	73	0	ENST00000398027.2:c.1158G>A	p.Glu386=	p.E386=	ENST00000398027	NM_017984.4	386	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43623.1	1158	RADIA|MUTECT|MUSE|VARSCANS	.	GATAGCTCCAG	NONE	.	.	hmmpanther:PTHR15999:SF2,hmmpanther:PTHR15999,Gene3D:2.30.30.160,Pfam_domain:PF00855,Superfamily_domains:SSF63748	.	.	ENSP00000381109	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000398027	Transcript	.	.	ENSG00000078487	23486	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZCPW1_HUMAN	ZCWPW1	HGNC	.	.	UPI000014146E	SNV	ZCWPW1,synonymous_variant,p.%3D,ENST00000471336,;ZCWPW1,synonymous_variant,p.%3D,ENST00000360951,;ZCWPW1,synonymous_variant,p.%3D,ENST00000398027,;ZCWPW1,synonymous_variant,p.%3D,ENST00000324725,;ZCWPW1,synonymous_variant,p.%3D,ENST00000490721,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000490089,;ZCWPW1,upstream_gene_variant,,ENST00000479315,;	1406	73	71	SUCCESS
TAS2R3	50831	.	GRCh37	7	141464093	141464093	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	6	154	0	ENST00000247879.2:c.135C>G	p.Asp45Glu	p.D45E	ENST00000247879	NM_016943.2	45	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS5867.1	135	MUTECT|MUSE	.	TCTGACTTCAT	NONE	.	.	hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF49,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000247879	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247879	Transcript	.	.	ENSG00000127362	14910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.71)	.	deleterious(0.02)	.	TA2R3_HUMAN	TAS2R3	HGNC	Q50KY9_HUMAN	.	UPI0000038B0B	SNV	TAS2R3,missense_variant,p.Asp45Glu,ENST00000247879,;SSBP1,intron_variant,,ENST00000465582,;	197	154	134	SUCCESS
KCNH2	3757	.	GRCh37	7	150646900	150646900	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	20	0	ENST00000262186.5:c.2398+356G>T		p.*800*	ENST00000262186	NM_000238.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5910.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCACATG	NONE	.	.	.	.	.	ENSP00000262186	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	MODIFIER	9/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,3_prime_UTR_variant,,ENST00000430723,;KCNH2,intron_variant,,ENST00000262186,;KCNH2,intron_variant,,ENST00000330883,;KCNH2,intron_variant,,ENST00000392968,;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	.	20	16	SUCCESS
GLI3	2737	.	GRCh37	7	42116418	42116418	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766056955	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	28	144	0	ENST00000395925.3:c.406C>A	p.Pro136Thr	p.P136T	ENST00000395925	NM_000168.5	136	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS5465.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGTACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	4/15	.	.	.	.	.	.	.	.	rs766056955	4/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Pro136Thr,ENST00000448703,;GLI3,missense_variant,p.Pro136Thr,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	491	144	157	SUCCESS
LRP12	29967	.	GRCh37	8	105502999	105502999	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138849088	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	333	22	257	1	ENST00000276654.5:c.2482C>T	p.Arg828Cys	p.R828C	ENST00000276654	NM_013437.4	828	Cgc/Tgc	0	A:0.0002	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS6303.1	2482	MUTECT|MUSE	.	ACAGCGCTCAC	NONE	byCluster|by1000G	.	.	A:0	A:0.0002	ENSP00000276654	A:0.001	7/7	.	.	.	.	.	.	.	.	rs138849088,COSM200418	7/7	PASS	ENST00000276654	Transcript	.	A:0.0002	ENSG00000147650	31708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.003)	A:0	tolerated_low_confidence(0.13)	0,1	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,missense_variant,p.Arg828Cys,ENST00000276654,;LRP12,missense_variant,p.Arg809Cys,ENST00000424843,;LRP12,downstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000522046,;	2591	258	355	SUCCESS
KCNQ3	3786	.	GRCh37	8	133141974	133141974	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	81	164	0	ENST00000388996.4:c.2154G>C	p.Val718=	p.V718=	ENST00000388996	NM_004519.3	718	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS34943.1	2154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTCACAGG	NONE	.	.	.	.	.	ENSP00000373648	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,synonymous_variant,p.%3D,ENST00000521134,;KCNQ3,synonymous_variant,p.%3D,ENST00000388996,;KCNQ3,synonymous_variant,p.%3D,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	2575	164	274	SUCCESS
MYOM2	9172	.	GRCh37	8	1998979	1998979	+	synonymous_variant	Silent	SNP	G	G	A	rs112978000	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	120	0	ENST00000262113.4:c.99G>A	p.Ala33=	p.A33=	ENST00000262113	NM_003970.2	33	gcG/gcA	0	A:0.0005	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS5957.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGCGTCAAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900	A:0	A:0.0001	ENSP00000262113	A:0	2/37	.	.	.	.	.	.	.	.	rs112978000	2/37	PASS	ENST00000262113	Transcript	.	A:0.0002	ENSG00000036448	7614	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,synonymous_variant,p.%3D,ENST00000262113,;MYOM2,intron_variant,,ENST00000523438,;	240	120	90	SUCCESS
SLC25A37	51312	.	GRCh37	8	23429092	23429092	+	synonymous_variant	Silent	SNP	C	C	T	rs769234541	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	35	0	ENST00000519973.1:c.741C>T	p.Leu247=	p.L247=	ENST00000519973	NM_016612.2	247	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47828.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF177,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000429200	.	4/4	.	.	.	.	.	.	.	.	rs769234541	4/4	PASS	ENST00000519973	Transcript	.	.	ENSG00000147454	29786	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFRN1_HUMAN	SLC25A37	HGNC	.	.	UPI00005A61AD	SNV	SLC25A37,synonymous_variant,p.%3D,ENST00000519973,;SLC25A37,3_prime_UTR_variant,,ENST00000523930,;FP15737,upstream_gene_variant,,ENST00000399967,;SLC25A37,non_coding_transcript_exon_variant,,ENST00000521637,;SLC25A37,non_coding_transcript_exon_variant,,ENST00000522164,;SLC25A37,3_prime_UTR_variant,,ENST00000290075,;SLC25A37,non_coding_transcript_exon_variant,,ENST00000523883,;SLC25A37,non_coding_transcript_exon_variant,,ENST00000518881,;SLC25A37,downstream_gene_variant,,ENST00000520654,;SLC25A37,downstream_gene_variant,,ENST00000417331,;	939	35	31	SUCCESS
STC1	6781	.	GRCh37	8	23709890	23709890	+	synonymous_variant	Silent	SNP	C	C	A	rs749681865	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	113	0	ENST00000290271.2:c.126G>T	p.Val42=	p.V42=	ENST00000290271	NM_003155.2	42	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6043.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAACCACTTC	NONE	byFrequency	.	hmmpanther:PTHR11245:SF1,hmmpanther:PTHR11245,Pfam_domain:PF03298	.	.	ENSP00000290271	.	2/4	.	.	.	.	.	.	.	.	rs749681865	2/4	PASS	ENST00000290271	Transcript	.	.	ENSG00000159167	11373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STC1_HUMAN	STC1	HGNC	Q71UE5_HUMAN,B4DN22_HUMAN	.	UPI00001360B4	SNV	STC1,synonymous_variant,p.%3D,ENST00000290271,;STC1,5_prime_UTR_variant,,ENST00000524323,;	410	114	106	SUCCESS
CNGB3	54714	.	GRCh37	8	87738774	87738774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	94	2	ENST00000320005.5:c.323A>G	p.Lys108Arg	p.K108R	ENST00000320005	NM_019098.4	108	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6244.1	323	RADIA|SOMATICSNIPER|VARSCANS	.	CTTCTTTCCCG	NONE	.	.	hmmpanther:PTHR10217:SF385,hmmpanther:PTHR10217	.	.	ENSP00000316605	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.025)	.	tolerated(0.36)	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,missense_variant,p.Lys108Arg,ENST00000320005,;RP11-386D6.1,intron_variant,,ENST00000519041,;CNGB3,non_coding_transcript_exon_variant,,ENST00000519777,;	371	96	117	SUCCESS
TUSC1	286319	.	GRCh37	9	25678526	25678526	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	45	101	0	ENST00000358022.3:c.-207A>T		p.*69*	ENST00000358022	NM_001004125.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34999.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTCTCTC	NONE	.	.	.	.	.	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,5_prime_UTR_variant,,ENST00000358022,;	331	101	102	SUCCESS
NFX1	4799	.	GRCh37	9	33295194	33295194	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs766710851	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	7	132	1	ENST00000379540.3:c.802C>T	p.Arg268Ter	p.R268*	ENST00000379540	NM_002504.4	268	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS6538.1	802	MUTECT|MUSE	.	GCCACCGACAT	NONE	byFrequency	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0	.	.	ENSP00000368856	.	2/24	.	.	.	.	.	.	.	.	rs766710851,COSM1319608	2/24	PASS	ENST00000379540	Transcript	.	.	ENSG00000086102	7803	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	NFX1_HUMAN	NFX1	HGNC	.	.	UPI0000072140	SNV	NFX1,stop_gained,p.Arg268Ter,ENST00000379540,;NFX1,stop_gained,p.Arg268Ter,ENST00000318524,;NFX1,stop_gained,p.Arg268Ter,ENST00000379521,;	864	133	112	SUCCESS
OGN	4969	.	GRCh37	9	95152228	95152228	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs746882470	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	47	0	ENST00000262551.4:c.538C>G	p.Leu180Val	p.L180V	ENST00000262551	NM_033014.2	180	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6695.1	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGTAGTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF5,hmmpanther:PTHR24371,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000262551	.	5/7	.	.	.	.	.	.	.	.	rs746882470	5/7	PASS	ENST00000262551	Transcript	.	.	ENSG00000106809	8126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	MIME_HUMAN	OGN	HGNC	A8K0R3_HUMAN	.	UPI00000540ED	SNV	OGN,missense_variant,p.Leu238Val,ENST00000447356,;OGN,missense_variant,p.Leu180Val,ENST00000375561,;OGN,missense_variant,p.Leu180Val,ENST00000262551,;CENPP,intron_variant,,ENST00000375587,;OGN,non_coding_transcript_exon_variant,,ENST00000468743,;	959	47	25	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	5605945	5605945	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	203	220	1	ENST00000400457.2:c.3922A>T	p.Arg1308Ter	p.R1308*	ENST00000400457	NM_032973.2	1308	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	.	.	3985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCAGAGGT	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000215473	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000215473	Transcript	.	.	ENSG00000099715	15813	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH11Y	HGNC	Q70LR5_HUMAN,Q70LR4_HUMAN,J3QSR5_HUMAN	.	UPI0000D613B5	SNV	PCDH11Y,stop_gained,p.Arg1329Ter,ENST00000215473,;PCDH11Y,stop_gained,p.Arg1308Ter,ENST00000400457,;	3985	221	223	SUCCESS
ITGA8	8516	.	GRCh37	10	15559199	15559199	+	synonymous_variant	Silent	SNP	G	G	T	rs199977895	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	54	0	ENST00000378076.3:c.3150C>A	p.Thr1050=	p.T1050=	ENST00000378076	NM_003638.1	1050	acC/acA	0	.	T:0	.	T:0	.	T	T	protein_coding	YES	CCDS31155.1	3150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCGGTCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5	T:0	.	ENSP00000367316	T:0	30/30	.	.	.	.	.	.	.	.	rs199977895	30/30	common_in_exac	ENST00000378076	Transcript	1	T:0.0028	ENSG00000077943	6144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0143	.	.	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,synonymous_variant,p.%3D,ENST00000378076,;	3504	54	34	SUCCESS
ZNF488	118738	.	GRCh37	10	48370889	48370889	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	202	0	ENST00000395702.2:c.357G>T	p.Glu119Asp	p.E119D	ENST00000395702		119	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS7217.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGAGGGA	NONE	.	.	hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF1	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.2)	.	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	SNV	ZNF488,missense_variant,p.Glu119Asp,ENST00000444585,;ZNF488,missense_variant,p.Glu119Asp,ENST00000395702,;ZNF488,missense_variant,p.Glu12Asp,ENST00000586537,;ZNF488,missense_variant,p.Glu119Asp,ENST00000425196,;ZNF488,3_prime_UTR_variant,,ENST00000494156,;ZNF488,downstream_gene_variant,,ENST00000442001,;ZNF488,downstream_gene_variant,,ENST00000433077,;ZNF488,downstream_gene_variant,,ENST00000436850,;ZNF488,downstream_gene_variant,,ENST00000412534,;	584	202	63	SUCCESS
SUPV3L1	6832	.	GRCh37	10	70955011	70955011	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	128	0	ENST00000359655.4:c.921A>T	p.Arg307Ser	p.R307S	ENST00000359655	NM_003171.3	307	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7287.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGAGCACT	NONE	.	.	hmmpanther:PTHR12131:SF1,hmmpanther:PTHR12131,Superfamily_domains:SSF52540	.	.	ENSP00000352678	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000359655	Transcript	.	.	ENSG00000156502	11471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SUV3_HUMAN	SUPV3L1	HGNC	.	.	UPI000007428D	SNV	SUPV3L1,missense_variant,p.Arg307Ser,ENST00000359655,;SUPV3L1,missense_variant,p.Arg113Ser,ENST00000422378,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000478227,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000486661,;SUPV3L1,downstream_gene_variant,,ENST00000483572,;SUPV3L1,downstream_gene_variant,,ENST00000471069,;	981	128	34	SUCCESS
DLG5	9231	.	GRCh37	10	79577541	79577541	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749257635	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	144	0	ENST00000372391.2:c.3778C>G	p.Arg1260Gly	p.R1260G	ENST00000372391	NM_004747.3	1260	Cgc/Ggc	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS7353.2	3778	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGGCGGGCGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13865	.	.	ENSP00000361467	.	18/32	.	.	.	.	.	.	.	.	rs749257635	18/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0.04)	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,missense_variant,p.Arg221Gly,ENST00000424842,;DLG5,missense_variant,p.Arg920Gly,ENST00000372388,;DLG5,missense_variant,p.Arg1260Gly,ENST00000372391,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000476354,;DLG5,downstream_gene_variant,,ENST00000466198,;	3784	144	45	SUCCESS
BLNK	29760	.	GRCh37	10	97956734	97956734	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	61	0	ENST00000224337.5:c.1181A>G	p.Tyr394Cys	p.Y394C	ENST00000224337	NM_013314.3	394	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7446.1	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TATTATATACT	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR14098:SF3,hmmpanther:PTHR14098,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000224337	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000224337	Transcript	1	.	ENSG00000095585	14211	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BLNK_HUMAN	BLNK	HGNC	Q2MD56_HUMAN	.	UPI000006FDD6	SNV	BLNK,missense_variant,p.Tyr394Cys,ENST00000224337,;BLNK,missense_variant,p.Tyr371Cys,ENST00000371176,;BLNK,intron_variant,,ENST00000427367,;BLNK,intron_variant,,ENST00000413476,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;BLNK,downstream_gene_variant,,ENST00000485193,;	1323	61	13	SUCCESS
KMT2A	4297	.	GRCh37	11	118342446	118342446	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	127	0	ENST00000534358.1:c.572C>G	p.Ser191Ter	p.S191*	ENST00000534358	NM_005933.3	191	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS55791.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCAGATC	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,stop_gained,p.Ser191Ter,ENST00000389506,;KMT2A,stop_gained,p.Ser191Ter,ENST00000354520,;KMT2A,stop_gained,p.Ser191Ter,ENST00000534358,;KMT2A,stop_gained,p.Ser224Ter,ENST00000531904,;KMT2A,intron_variant,,ENST00000527869,;KMT2A,intron_variant,,ENST00000533790,;	595	128	33	SUCCESS
PHRF1	57661	.	GRCh37	11	587380	587380	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	206	0	ENST00000264555.5:c.336C>A	p.Leu112=	p.L112=	ENST00000264555	NM_020901.2	112	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44507.1	336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCAACGC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000410626	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,synonymous_variant,p.%3D,ENST00000416188,;PHRF1,synonymous_variant,p.%3D,ENST00000264555,;PHRF1,synonymous_variant,p.%3D,ENST00000413872,;PHRF1,synonymous_variant,p.%3D,ENST00000533464,;PHRF1,synonymous_variant,p.%3D,ENST00000534320,;	429	206	43	SUCCESS
KCNA5	3741	.	GRCh37	12	5153808	5153808	+	synonymous_variant	Silent	SNP	C	C	T	rs1251090692	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	29	100	0	ENST00000252321.3:c.495C>T	p.Phe165=	p.F165=	ENST00000252321	NM_002234.3	165	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS8536.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCGACCG	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01496,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	COSM3461867	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,synonymous_variant,p.%3D,ENST00000252321,;	724	100	56	SUCCESS
SCNN1A	6337	.	GRCh37	12	6483876	6483876	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768767909	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	65	0	ENST00000228916.2:c.74A>G	p.Lys25Arg	p.K25R	ENST00000228916	NM_001038.5	25	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS53738.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCTTGTTC	NONE	.	.	hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690	.	.	ENSP00000353292	.	1/12	.	.	.	.	.	.	.	.	rs768767909	1/12	PASS	ENST00000360168	Transcript	.	.	ENSG00000111319	10599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	tolerated(0.05)	.	SCNNA_HUMAN	SCNN1A	HGNC	Q6UP09_HUMAN,F5GXE6_HUMAN	.	UPI00001B07D7	SNV	SCNN1A,missense_variant,p.Lys46Arg,ENST00000536788,;SCNN1A,missense_variant,p.Lys25Arg,ENST00000396966,;SCNN1A,missense_variant,p.Lys25Arg,ENST00000228916,;SCNN1A,missense_variant,p.Lys25Arg,ENST00000358945,;SCNN1A,missense_variant,p.Lys84Arg,ENST00000360168,;SCNN1A,missense_variant,p.Lys48Arg,ENST00000543768,;LTBR,upstream_gene_variant,,ENST00000539925,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000545605,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000543585,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542260,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542436,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000544882,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000538957,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000536176,;SCNN1A,intron_variant,,ENST00000538979,;LTBR,upstream_gene_variant,,ENST00000546296,;LTBR,upstream_gene_variant,,ENST00000542830,;SCNN1A,downstream_gene_variant,,ENST00000536411,;SCNN1A,missense_variant,p.Lys25Arg,ENST00000338748,;	515	65	32	SUCCESS
TAPBPL	55080	.	GRCh37	12	6568090	6568090	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201307271	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	125	1	ENST00000266556.7:c.1184C>T	p.Ala395Val	p.A395V	ENST00000266556	NM_018009.4	395	gCc/gTc	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS8546.1	1184	MUTECT|MUSE	.	TGGGGCCAGCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23411:SF3,hmmpanther:PTHR23411,Superfamily_domains:SSF48726	T:0	.	ENSP00000266556	T:0	5/7	.	.	.	.	.	.	.	.	rs201307271	5/7	common_in_exac	ENST00000266556	Transcript	.	T:0.0014	ENSG00000139192	30683	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	T:0.0072	tolerated(0.95)	.	TPSNR_HUMAN	TAPBPL	HGNC	.	.	UPI000013D6F6	SNV	TAPBPL,missense_variant,p.Ala395Val,ENST00000266556,;VAMP1,downstream_gene_variant,,ENST00000396308,;VAMP1,downstream_gene_variant,,ENST00000361716,;TAPBPL,downstream_gene_variant,,ENST00000544021,;VAMP1,downstream_gene_variant,,ENST00000535180,;VAMP1,downstream_gene_variant,,ENST00000400911,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;TAPBPL,intron_variant,,ENST00000542160,;TAPBPL,upstream_gene_variant,,ENST00000544289,;VAMP1,downstream_gene_variant,,ENST00000544432,;	1349	126	41	SUCCESS
CD163	9332	.	GRCh37	12	7640068	7640068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	52	306	0	ENST00000359156.4:c.1937G>T	p.Trp646Leu	p.W646L	ENST00000359156	NM_004244.5	646	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS8578.1	1937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCAGATC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000352071	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000359156	Transcript	.	.	ENSG00000177575	1631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.12)	.	C163A_HUMAN	CD163	HGNC	.	.	UPI00004565CC	SNV	CD163,missense_variant,p.Trp634Leu,ENST00000541972,;CD163,missense_variant,p.Trp646Leu,ENST00000359156,;CD163,missense_variant,p.Trp679Leu,ENST00000396620,;CD163,missense_variant,p.Trp646Leu,ENST00000432237,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,upstream_gene_variant,,ENST00000538840,;	2140	306	134	SUCCESS
NAA16	79612	.	GRCh37	13	41905450	41905450	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	95	0	ENST00000379406.3:c.852T>C	p.Ser284=	p.S284=	ENST00000379406	NM_024561.4	284	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9379.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGTAAGCA	NONE	.	.	Superfamily_domains:SSF48452,PIRSF_domain:PIRSF000422,Pfam_domain:PF12569,Gene3D:1.25.40.10,hmmpanther:PTHR22767:SF5,hmmpanther:PTHR22767	.	.	ENSP00000368716	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000379406	Transcript	.	.	ENSG00000172766	26164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA16_HUMAN	NAA16	HGNC	A4FU51_HUMAN	.	UPI00001B559E	SNV	NAA16,synonymous_variant,p.%3D,ENST00000403412,;NAA16,synonymous_variant,p.%3D,ENST00000379367,;NAA16,synonymous_variant,p.%3D,ENST00000379406,;NAA16,non_coding_transcript_exon_variant,,ENST00000483215,;NAA16,non_coding_transcript_exon_variant,,ENST00000476980,;NAA16,synonymous_variant,p.%3D,ENST00000464857,;	1176	95	52	SUCCESS
KLHL1	57626	.	GRCh37	13	70549804	70549804	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs553340739	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	107	0	ENST00000377844.4:c.628C>T	p.Gln210Ter	p.Q210*	ENST00000377844	NM_020866.2	210	Caa/Taa	0	.	T:0	.	T:0.0014	.	A	Q/*	protein_coding	YES	CCDS9445.1	628	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTGCTGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	T:0	.	ENSP00000367075	T:0	2/11	.	.	.	.	.	.	.	.	rs553340739	2/11	PASS	ENST00000377844	Transcript	.	T:0.0002	ENSG00000150361	6352	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,stop_gained,p.Gln210Ter,ENST00000377844,;KLHL1,intron_variant,,ENST00000545028,;	1388	107	44	SUCCESS
SLITRK5	26050	.	GRCh37	13	88330185	88330185	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	77	0	ENST00000325089.6:c.2542G>A	p.Val848Met	p.V848M	ENST00000325089	NM_015567.1	848	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS9465.1	2542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGGTGCAG	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.24)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Val848Met,ENST00000325089,;SLITRK5,missense_variant,p.Val607Met,ENST00000400028,;	2761	77	39	SUCCESS
DOCK9	23348	.	GRCh37	13	99512555	99512555	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	142	1	ENST00000376460.1:c.3697+104G>T		p.*1233*	ENST00000376460	NM_015296.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGACTTCAA	NONE	.	.	.	.	.	ENSP00000365643	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376460	Transcript	.	.	ENSG00000088387	14132	.	.	MODIFIER	33/56	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK9_HUMAN	DOCK9	HGNC	.	.	UPI000046FD7F	SNV	DOCK9,3_prime_UTR_variant,,ENST00000442173,;DOCK9,intron_variant,,ENST00000376460,;DOCK9,intron_variant,,ENST00000339416,;DOCK9,intron_variant,,ENST00000448493,;DOCK9,upstream_gene_variant,,ENST00000449796,;DOCK9,non_coding_transcript_exon_variant,,ENST00000461998,;DOCK9,intron_variant,,ENST00000472874,;	.	143	65	SUCCESS
MYH7	4625	.	GRCh37	14	23902342	23902342	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	58	371	0	ENST00000355349.3:c.296C>T	p.Pro99Leu	p.P99L	ENST00000355349	NM_000257.2	99	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9601.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGGGCTCA	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	4/40	.	.	.	.	.	.	.	.	.	4/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.741)	.	deleterious(0.02)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Pro99Leu,ENST00000355349,;	459	371	162	SUCCESS
SLC8A3	6547	.	GRCh37	14	70634240	70634240	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	91	0	ENST00000381269.2:c.900C>T	p.Asn300=	p.N300=	ENST00000381269	NM_183002.1	300	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS35498.1	900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTTCCC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845	.	.	ENSP00000370669	.	2/8	.	.	.	.	.	.	.	.	COSM1515871,COSM1515872	2/8	PASS	ENST00000381269	Transcript	.	.	ENSG00000100678	11070	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	NAC3_HUMAN	SLC8A3	HGNC	Q86TQ9_HUMAN	.	UPI0000073C9A	SNV	SLC8A3,synonymous_variant,p.%3D,ENST00000534137,;SLC8A3,synonymous_variant,p.%3D,ENST00000381269,;SLC8A3,synonymous_variant,p.%3D,ENST00000357887,;SLC8A3,synonymous_variant,p.%3D,ENST00000528359,;SLC8A3,synonymous_variant,p.%3D,ENST00000356921,;SLC8A3,synonymous_variant,p.%3D,ENST00000494208,;	1654	91	21	SUCCESS
POMT2	29954	.	GRCh37	14	77744797	77744797	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	62	0	ENST00000261534.4:c.2087C>G	p.Pro696Arg	p.P696R	ENST00000261534	NM_013382.5	696	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS9857.1	2087	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CCAGGGGCCAT	NONE	.	.	hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF31	.	.	ENSP00000261534	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000261534	Transcript	.	.	ENSG00000009830	19743	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.49)	.	POMT2_HUMAN	POMT2	HGNC	G3V4X9_HUMAN	.	UPI0000070587	SNV	POMT2,missense_variant,p.Pro48Arg,ENST00000556394,;POMT2,missense_variant,p.Pro696Arg,ENST00000261534,;POMT2,downstream_gene_variant,,ENST00000556171,;POMT2,non_coding_transcript_exon_variant,,ENST00000602717,;POMT2,3_prime_UTR_variant,,ENST00000555710,;POMT2,non_coding_transcript_exon_variant,,ENST00000452340,;POMT2,non_coding_transcript_exon_variant,,ENST00000556446,;POMT2,non_coding_transcript_exon_variant,,ENST00000554767,;POMT2,downstream_gene_variant,,ENST00000555134,;POMT2,downstream_gene_variant,,ENST00000554564,;	2290	63	21	SUCCESS
TC2N	123036	.	GRCh37	14	92265340	92265340	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	20	0	ENST00000340892.5:c.630A>C	p.Arg210Ser	p.R210S	ENST00000340892	NM_152332.4	210	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS9897.1	630	RADIA|MUTECT|MUSE	.	AGGCTTCTGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10024:SF5,hmmpanther:PTHR10024	.	.	ENSP00000387882	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000435962	Transcript	.	.	ENSG00000165929	19859	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.804)	.	tolerated(0.23)	.	TAC2N_HUMAN	TC2N	HGNC	.	.	UPI000013E531	SNV	TC2N,start_lost,p.Arg1?,ENST00000556590,;TC2N,missense_variant,p.Arg210Ser,ENST00000556018,;TC2N,missense_variant,p.Arg210Ser,ENST00000435962,;TC2N,missense_variant,p.Arg210Ser,ENST00000360594,;TC2N,missense_variant,p.Arg210Ser,ENST00000340892,;	954	20	11	SUCCESS
TUBGCP5	114791	.	GRCh37	15	22848249	22848249	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	114	0	ENST00000283645.4:c.839G>T	p.Gly280Val	p.G280V	ENST00000283645	NM_052903.4	280	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10008.1	839	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGGAGTGA	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF33,Pfam_domain:PF04130	.	.	ENSP00000283645	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000283645	Transcript	.	.	ENSG00000153575	18600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GCP5_HUMAN	TUBGCP5	HGNC	.	.	UPI000012B2EE	SNV	TUBGCP5,missense_variant,p.Gly280Val,ENST00000283645,;TUBGCP5,missense_variant,p.Gly280Val,ENST00000453949,;TUBGCP5,downstream_gene_variant,,ENST00000558664,;TUBGCP5,upstream_gene_variant,,ENST00000559846,;	969	114	35	SUCCESS
NDN	4692	.	GRCh37	15	23931945	23931945	+	synonymous_variant	Silent	SNP	G	G	T	rs755847883	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	40	0	ENST00000331837.4:c.420C>A	p.Leu140=	p.L140=	ENST00000331837	NM_002487.2	140	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10014.1	420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGGAGGAT	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	rs755847883	1/1	PASS	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,synonymous_variant,p.%3D,ENST00000331837,;	506	40	24	SUCCESS
VPS39	23339	.	GRCh37	15	42476724	42476724	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs776366608	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	34	253	0	ENST00000348544.4:c.742del	p.Val248TrpfsTer86	p.V248Wfs*86	ENST00000348544		248	Gtg/tg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS10083.1	709	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCCACTGGTA	NONE	byFrequency	.	PROSITE_profiles:PS50219,hmmpanther:PTHR12894:SF10,hmmpanther:PTHR12894,Pfam_domain:PF00780,SMART_domains:SM00036	.	.	ENSP00000326534	.	8/25	.	.	.	.	.	.	.	.	rs776366608	8/25	PASS	ENST00000318006	Transcript	.	.	ENSG00000166887	20593	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VPS39_HUMAN	VPS39	HGNC	.	.	UPI0000169BB1	deletion	VPS39,frameshift_variant,p.Val248TrpfsTer86,ENST00000348544,;VPS39,frameshift_variant,p.Val237TrpfsTer86,ENST00000318006,;VPS39,non_coding_transcript_exon_variant,,ENST00000570062,;	872	253	144	SUCCESS
MYEF2	50804	.	GRCh37	15	48458174	48458174	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	73	0	ENST00000324324.7:c.481A>C	p.Met161Leu	p.M161L	ENST00000324324	NM_016132.3	161	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS32230.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATAGTTT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003,PROSITE_profiles:PS50102	.	.	ENSP00000316950	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000324324	Transcript	.	.	ENSG00000104177	17940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	tolerated(0.69)	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,missense_variant,p.Met161Leu,ENST00000324324,;MYEF2,missense_variant,p.Met161Leu,ENST00000267836,;AC066612.1,downstream_gene_variant,,ENST00000583682,;MYEF2,non_coding_transcript_exon_variant,,ENST00000560157,;MYEF2,intron_variant,,ENST00000559862,;MYEF2,3_prime_UTR_variant,,ENST00000561151,;MYEF2,3_prime_UTR_variant,,ENST00000561351,;	761	73	39	SUCCESS
DNAH3	55567	.	GRCh37	16	21049196	21049196	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs141984585	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	62	420	0	ENST00000261383.3:c.4837G>T	p.Ala1613Ser	p.A1613S	ENST00000261383	NM_017539.1	1613	Gca/Tca	0	.	A:0	.	A:0	.	A	A/S	protein_coding	YES	CCDS10594.1	4837	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCGGCAG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52540,Pfam_domain:PF12774,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	A:0.005	.	ENSP00000261383	A:0	34/62	.	.	.	.	.	.	.	.	rs141984585	34/62	PASS	ENST00000261383	Transcript	.	A:0.0010	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	A:0	deleterious(0.01)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Ala1613Ser,ENST00000261383,;DNAH3,missense_variant,p.Ala1613Ser,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572931,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;	4837	420	168	SUCCESS
KLHDC4	54758	.	GRCh37	16	87741993	87741994	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	97	0	ENST00000270583.5:c.1526_1527del	p.Asp509GlyfsTer35	p.D509Gfs*35	ENST00000270583	NM_017566.3	509	gAC/g	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS10963.1	1526-1527	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTTCGTCGTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23244:SF283,hmmpanther:PTHR23244	.	.	ENSP00000270583	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000270583	Transcript	.	.	ENSG00000104731	25272	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLDC4_HUMAN	KLHDC4	HGNC	.	.	UPI00000705D4	deletion	KLHDC4,frameshift_variant,p.Asp452GlyfsTer34,ENST00000353170,;KLHDC4,frameshift_variant,p.Asp509GlyfsTer35,ENST00000270583,;KLHDC4,frameshift_variant,p.Asp478GlyfsTer35,ENST00000347925,;KLHDC4,downstream_gene_variant,,ENST00000562261,;FLJ00104,upstream_gene_variant,,ENST00000446344,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000316853,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000568499,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000566349,;KLHDC4,downstream_gene_variant,,ENST00000567513,;KLHDC4,frameshift_variant,p.Asp509GlyfsTer15,ENST00000567298,;KLHDC4,3_prime_UTR_variant,,ENST00000562155,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000569487,;KLHDC4,downstream_gene_variant,,ENST00000562913,;KLHDC4,downstream_gene_variant,,ENST00000566661,;	1585-1586	97	50	SUCCESS
SHISA6	388336	.	GRCh37	17	11166793	11166793	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs267604730	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	308	1	ENST00000409168.3:c.749C>A	p.Ser250Ter	p.S250*	ENST00000409168	NM_001173461.1	250	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS45615.1	749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	CAGATCGTCCT	NONE	.	.	hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,Pfam_domain:PF13908	.	.	ENSP00000390084	.	2/6	.	.	.	.	.	.	.	.	rs267604730	2/6	PASS	ENST00000441885	Transcript	.	.	ENSG00000188803	34491	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	SHSA6_HUMAN	SHISA6	HGNC	.	.	UPI000183CBD8	SNV	SHISA6,stop_gained,p.Ser250Ter,ENST00000432116,;SHISA6,stop_gained,p.Ser78Ter,ENST00000343478,;SHISA6,stop_gained,p.Ser250Ter,ENST00000409168,;SHISA6,stop_gained,p.Ser250Ter,ENST00000441885,;AC005725.1,downstream_gene_variant,,ENST00000517193,;	909	309	82	SUCCESS
DNAH9	1770	.	GRCh37	17	11573031	11573031	+	synonymous_variant	Silent	SNP	C	C	G	rs754016748	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	17	124	0	ENST00000262442.4:c.3273C>G	p.Pro1091=	p.P1091=	ENST00000262442	NM_001372.3	1091	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11160.1	3273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCCTTTAA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676	.	.	ENSP00000262442	.	17/69	.	.	.	.	.	.	.	.	rs754016748	17/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;	3341	124	28	SUCCESS
RPL23A	6147	.	GRCh37	17	27049757	27049757	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772937257	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	74	319	0	ENST00000422514.2:c.226A>G	p.Ile76Val	p.I76V	ENST00000422514	NM_000984.5	76	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11241.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTATCATC	NONE	.	.	HAMAP:MF_01369_A,hmmpanther:PTHR11620,Gene3D:3.30.70.330,Pfam_domain:PF00276,Superfamily_domains:SSF54189	.	.	ENSP00000389103	.	3/5	.	.	.	.	.	.	.	.	rs772937257	3/5	PASS	ENST00000422514	Transcript	.	.	ENSG00000198242	10317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	tolerated(0.19)	.	RL23A_HUMAN	RPL23A	HGNC	K7EMA7_HUMAN	.	UPI0000028D48	SNV	RPL23A,missense_variant,p.Ile114Val,ENST00000394938,;RPL23A,missense_variant,p.Ile95Val,ENST00000394935,;RPL23A,missense_variant,p.Ile76Val,ENST00000422514,;RPL23A,missense_variant,p.Ile69Val,ENST00000578181,;RPL23A,missense_variant,p.Ile78Val,ENST00000355731,;RPL23A,5_prime_UTR_variant,,ENST00000472628,;RPL23A,5_prime_UTR_variant,,ENST00000496182,;RAB34,upstream_gene_variant,,ENST00000430132,;RAB34,upstream_gene_variant,,ENST00000301043,;RAB34,upstream_gene_variant,,ENST00000419712,;NEK8,upstream_gene_variant,,ENST00000579060,;RAB34,upstream_gene_variant,,ENST00000415040,;RAB34,upstream_gene_variant,,ENST00000436730,;RAB34,upstream_gene_variant,,ENST00000353676,;RAB34,upstream_gene_variant,,ENST00000447716,;NEK8,upstream_gene_variant,,ENST00000579671,;RAB34,upstream_gene_variant,,ENST00000450529,;RAB34,upstream_gene_variant,,ENST00000582934,;RAB34,upstream_gene_variant,,ENST00000583538,;TLCD1,downstream_gene_variant,,ENST00000394933,;RAB34,upstream_gene_variant,,ENST00000395242,;TLCD1,downstream_gene_variant,,ENST00000581236,;RAB34,upstream_gene_variant,,ENST00000395243,;RAB34,upstream_gene_variant,,ENST00000395245,;TLCD1,downstream_gene_variant,,ENST00000292090,;RAB34,upstream_gene_variant,,ENST00000580843,;TLCD1,downstream_gene_variant,,ENST00000580518,;RAB34,upstream_gene_variant,,ENST00000412625,;RAB34,upstream_gene_variant,,ENST00000453384,;SNORD42A,upstream_gene_variant,,ENST00000459584,;SNORD4B,upstream_gene_variant,,ENST00000459083,;SNORD4A,downstream_gene_variant,,ENST00000459174,;SNORD42B,downstream_gene_variant,,ENST00000458893,;AC010761.8,non_coding_transcript_exon_variant,,ENST00000582718,;AC010761.14,upstream_gene_variant,,ENST00000587898,;RPL23A,downstream_gene_variant,,ENST00000582736,;RPL23A,upstream_gene_variant,,ENST00000580755,;RAB34,upstream_gene_variant,,ENST00000482688,;NEK8,upstream_gene_variant,,ENST00000584342,;	839	319	174	SUCCESS
UNC45B	146862	.	GRCh37	17	33486394	33486394	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	130	0	ENST00000268876.5:c.809A>G	p.Asp270Gly	p.D270G	ENST00000268876	NM_173167.2	270	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11292.1	809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGACACCA	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.765)	.	deleterious(0)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Asp270Gly,ENST00000378449,;UNC45B,missense_variant,p.Asp270Gly,ENST00000433649,;UNC45B,missense_variant,p.Asp270Gly,ENST00000268876,;UNC45B,missense_variant,p.Asp270Gly,ENST00000591048,;UNC45B,missense_variant,p.Asp270Gly,ENST00000394570,;RP11-799D4.3,downstream_gene_variant,,ENST00000585646,;	906	130	83	SUCCESS
KRT23	25984	.	GRCh37	17	39084785	39084785	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	151	0	ENST00000209718.3:c.711G>C	p.Leu237=	p.L237=	ENST00000209718	NM_015515.3	237	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11380.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATCAGATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Prints_domain:PR01248,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF163	.	.	ENSP00000209718	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000209718	Transcript	.	.	ENSG00000108244	6438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C23_HUMAN	KRT23	HGNC	K7EPI0_HUMAN,I3L3Q6_HUMAN	.	UPI000013C66F	SNV	KRT23,synonymous_variant,p.%3D,ENST00000436344,;KRT23,synonymous_variant,p.%3D,ENST00000209718,;KRT23,downstream_gene_variant,,ENST00000584517,;AC004231.2,non_coding_transcript_exon_variant,,ENST00000418393,;KRT23,3_prime_UTR_variant,,ENST00000494691,;KRT23,3_prime_UTR_variant,,ENST00000462312,;KRT23,non_coding_transcript_exon_variant,,ENST00000582754,;	1136	151	67	SUCCESS
KRT39	390792	.	GRCh37	17	39118509	39118509	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773957853	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	120	0	ENST00000355612.2:c.901A>G	p.Ser301Gly	p.S301G	ENST00000355612	NM_213656.3	301	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS11382.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCTGGTCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000347823	.	5/7	.	.	.	.	.	.	.	.	rs773957853	5/7	PASS	ENST00000355612	Transcript	.	.	ENSG00000196859	32971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.04)	.	K1C39_HUMAN	KRT39	HGNC	J3QRE9_HUMAN	.	UPI0000237913	SNV	KRT39,missense_variant,p.Ser301Gly,ENST00000355612,;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,upstream_gene_variant,,ENST00000578029,;	937	120	68	SUCCESS
KRT39	390792	.	GRCh37	17	39118510	39118510	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	116	1	ENST00000355612.2:c.900C>A	p.Thr300=	p.T300=	ENST00000355612	NM_213656.3	300	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11382.1	900	RADIA|SOMATICSNIPER|VARSCANS	.	GAGCTGGTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000347823	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000355612	Transcript	.	.	ENSG00000196859	32971	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1C39_HUMAN	KRT39	HGNC	J3QRE9_HUMAN	.	UPI0000237913	SNV	KRT39,synonymous_variant,p.%3D,ENST00000355612,;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,upstream_gene_variant,,ENST00000578029,;	936	117	68	SUCCESS
HOXB5	3215	.	GRCh37	17	46669637	46669637	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	147	0	ENST00000239151.5:c.744G>C	p.Lys248Asn	p.K248N	ENST00000239151	NM_002147.3	248	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS11530.1	744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTTCAT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF165,hmmpanther:PTHR24326,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024	.	.	ENSP00000239151	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239151	Transcript	.	.	ENSG00000120075	5116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HXB5_HUMAN	HOXB5	HGNC	.	.	UPI000012CF58	SNV	HOXB5,missense_variant,p.Lys248Asn,ENST00000239151,;HOXB6,downstream_gene_variant,,ENST00000225648,;HOXB3,upstream_gene_variant,,ENST00000476342,;HOXB6,downstream_gene_variant,,ENST00000484302,;HOXB3,upstream_gene_variant,,ENST00000460160,;HOXB3,upstream_gene_variant,,ENST00000498678,;HOXB3,upstream_gene_variant,,ENST00000472863,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,upstream_gene_variant,,ENST00000481995,;HOXB-AS3,upstream_gene_variant,,ENST00000487849,;HOXB-AS3,upstream_gene_variant,,ENST00000466037,;HOXB-AS3,upstream_gene_variant,,ENST00000460041,;HOXB-AS3,upstream_gene_variant,,ENST00000477144,;HOXB-AS3,upstream_gene_variant,,ENST00000429755,;HOXB-AS3,upstream_gene_variant,,ENST00000474324,;HOXB-AS3,upstream_gene_variant,,ENST00000492897,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000470193,;	1023	147	91	SUCCESS
APPBP2	10513	.	GRCh37	17	58571884	58571884	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs768353735	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	37	86	0	ENST00000083182.3:c.322A>G	p.Ile108Val	p.I108V	ENST00000083182	NM_006380.2	108	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32699.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTATATAAG	NONE	byFrequency	.	hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF114	.	.	ENSP00000083182	.	3/13	.	.	.	.	.	.	.	.	rs768353735	3/13	PASS	ENST00000083182	Transcript	.	.	ENSG00000062725	622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	APBP2_HUMAN	APPBP2	HGNC	K7EIZ9_HUMAN	.	UPI000006D959	SNV	APPBP2,missense_variant,p.Ile108Val,ENST00000585368,;APPBP2,missense_variant,p.Ile108Val,ENST00000083182,;APPBP2,non_coding_transcript_exon_variant,,ENST00000590244,;APPBP2,3_prime_UTR_variant,,ENST00000588668,;APPBP2,3_prime_UTR_variant,,ENST00000589341,;	610	86	65	SUCCESS
TEX2	55852	.	GRCh37	17	62230425	62230425	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	109	0	ENST00000583097.1:c.3020A>T	p.Glu1007Val	p.E1007V	ENST00000583097		1007	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS11658.1	3041	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACTCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2	.	.	ENSP00000258991	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Glu1007Val,ENST00000584379,;TEX2,missense_variant,p.Glu1014Val,ENST00000258991,;TEX2,missense_variant,p.Glu1007Val,ENST00000583097,;TEX2,missense_variant,p.Glu506Val,ENST00000583501,;TEX2,non_coding_transcript_exon_variant,,ENST00000581812,;TEX2,non_coding_transcript_exon_variant,,ENST00000584498,;TEX2,downstream_gene_variant,,ENST00000577489,;	3126	109	60	SUCCESS
SOX9	6662	.	GRCh37	17	70119055	70119055	+	synonymous_variant	Silent	SNP	C	C	T	rs752697003	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	45	102	0	ENST00000245479.2:c.627C>T	p.Ala209=	p.A209=	ENST00000245479	NM_000346.3	209	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11689.1	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCGACTC	NONE	byFrequency	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212	.	.	ENSP00000245479	.	2/3	.	.	.	.	.	.	.	.	rs752697003	2/3	PASS	ENST00000245479	Transcript	.	.	ENSG00000125398	11204	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX9_HUMAN	SOX9	HGNC	.	.	UPI00000009D8	SNV	SOX9,synonymous_variant,p.%3D,ENST00000245479,;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	999	102	78	SUCCESS
TP53	7157	.	GRCh37	17	7578513	7578513	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1567554121	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	98	0	ENST00000269305.4:c.417G>T	p.Lys139Asn	p.K139N	ENST00000269305	NM_001126112.2	139	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS11118.1	417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCTTGGC	SITE|p.K139N|c.417G>T|5,CODON|p.0?|c.1_1182del1182|6,CODON|p.K139K|c.417G>A|7,CODON|p.K139N|c.417G>C|6,BUFFER|p.V11A|c.32T>C|4,BUFFER|p.V143E|c.428T>A|6,BUFFER|p.V143A|c.428T>C|3,BUFFER|p.V143A|c.428T>C|4,BUFFER|p.V143A|c.428T>C|16,BUFFER|p.V50A|c.149T>C|4,BUFFER|p.V143M|c.427G>A|4,BUFFER|p.V143L|c.427G>T|3,BUFFER|p.V143M|c.427G>A|3,BUFFER|p.V143M|c.427G>A|22,BUFFER|p.V11M|c.31G>A|4,BUFFER|p.V50M|c.148G>A|4,BUFFER|p.V143M|c.427G>A|4,BUFFER|p.P142H|c.425C>A|3,BUFFER|p.P142L|c.425C>T|8,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C141W|c.423C>G|13,BUFFER|p.C141*|c.423C>A|12,BUFFER|p.C48W|c.144C>G|3,BUFFER|p.C141C|c.423C>T|4,BUFFER|p.C141W|c.423C>G|3,BUFFER|p.C9W|c.27C>G|4,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|3,BUFFER|p.C141Y|c.422G>A|13,BUFFER|p.C48Y|c.143G>A|13,BUFFER|p.C141F|c.422G>T|4,BUFFER|p.C9Y|c.26G>A|13,BUFFER|p.C141Y|c.422G>A|78,BUFFER|p.C141Y|c.422G>A|12,BUFFER|p.C48R|c.142T>C|8,BUFFER|p.C141G|c.421T>G|3,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.C9R|c.25T>C|8,BUFFER|p.C141R|c.421T>C|22,BUFFER|p.C141R|c.421T>C|6,BUFFER|p.C141R|c.421T>C|8,BUFFER|p.T140T|c.420C>T|6,BUFFER|p.T140I|c.419C>T|11,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139*|c.415A>T|5,BUFFER|p.K7*|c.19A>T|3,BUFFER|p.K139*|c.415A>T|3,BUFFER|p.K139E|c.415A>G|4,BUFFER|p.K46*|c.136A>T|3,BUFFER|p.A138fs*32|c.412delG|5,BUFFER|p.A138V|c.413C>T|4,BUFFER|p.A138V|c.413C>T|4,BUFFER|p.A6V|c.17C>T|4,BUFFER|p.A45V|c.134C>T|4,BUFFER|p.A138V|c.413C>T|21,BUFFER|p.A138P|c.412G>C|14,BUFFER|p.A138T|c.412G>A|5,BUFFER|p.A138fs*11|c.411_412insN|3,BUFFER|p.L137L|c.411G>A|3,BUFFER|p.L137P|c.410T>C|3,BUFFER|p.L137Q|c.410T>A|3,BUFFER|p.Q136H|c.408A>C|5,BUFFER|p.Q136Q|c.408A>G|4,BUFFER|p.Q136P|c.407A>C|3,BUFFER|p.Q136E|c.406C>G|9,BUFFER|p.Q136*|c.406C>T|35,BUFFER|p.Q4*|c.10C>T|5,BUFFER|p.Q136E|c.406C>G|6,BUFFER|p.Q43*|c.127C>T|5,BUFFER|p.Q4E|c.10C>G|6,BUFFER|p.Q136E|c.406C>G|6,BUFFER|p.Q136E|c.406C>G|4,BUFFER|p.Q136E|c.406C>G|5,BUFFER|p.Q43E|c.127C>G|6,BUFFER|p.Q136*|c.406C>T|5,BUFFER|p.Q136*|c.406C>T|5,BUFFER|p.Q136*|c.406C>T|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	TP53_g.12405G>T,TP53_g.12405G>C,TP53_g.12405G>A,COSM44101,COSM44220,COSM44086,COSM1303397,COSM3356969,COSM1303398,COSM3356972,COSM3356974,COSM1303400,COSM3356971,COSM3356970,COSM3356973,COSM1303399	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	possibly_damaging(0.832)	.	deleterious(0.02)	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Lys139Asn,ENST00000508793,;TP53,missense_variant,p.Lys139Asn,ENST00000413465,;TP53,missense_variant,p.Lys132Asn,ENST00000604348,;TP53,missense_variant,p.Lys139Asn,ENST00000420246,;TP53,missense_variant,p.Lys139Asn,ENST00000269305,;TP53,missense_variant,p.Lys7Asn,ENST00000509690,;TP53,missense_variant,p.Lys139Asn,ENST00000359597,;TP53,missense_variant,p.Lys46Asn,ENST00000514944,;TP53,missense_variant,p.Lys139Asn,ENST00000445888,;TP53,missense_variant,p.Lys139Asn,ENST00000455263,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	607	98	41	SUCCESS
C1QTNF1	114897	.	GRCh37	17	77042704	77042704	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148895244	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	215	0	ENST00000339142.2:c.223C>T	p.Arg75Cys	p.R75C	ENST00000339142	NM_198593.3	75	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS11761.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGCGCTGC	NONE	byCluster	.	hmmpanther:PTHR24022:SF10,hmmpanther:PTHR24022	.	T:0.0002	ENSP00000340864	.	4/5	.	.	.	.	.	.	.	.	rs148895244	4/5	PASS	ENST00000339142	Transcript	.	.	ENSG00000173918	14324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	C1QT1_HUMAN	C1QTNF1	HGNC	.	.	UPI0000035539	SNV	C1QTNF1,missense_variant,p.Arg85Cys,ENST00000354124,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000392445,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000581774,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000583904,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000339142,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000580454,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000580474,;C1QTNF1,missense_variant,p.Arg75Cys,ENST00000579760,;C1QTNF1,5_prime_UTR_variant,,ENST00000311661,;C1QTNF1,5_prime_UTR_variant,,ENST00000578229,;C1QTNF1,upstream_gene_variant,,ENST00000582625,;	778	216	112	SUCCESS
RPTOR	57521	.	GRCh37	17	78857615	78857615	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	84	0	ENST00000306801.3:c.1685G>A	p.Cys562Tyr	p.C562Y	ENST00000306801	NM_020761.2	562	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS11773.1	1685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGCCTGG	NONE	.	.	hmmpanther:PTHR12848,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000307272	.	16/34	.	.	.	.	.	.	.	.	COSM1564141	16/34	PASS	ENST00000306801	Transcript	.	.	ENSG00000141564	30287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.949)	.	deleterious(0)	1	RPTOR_HUMAN	RPTOR	HGNC	Q6DKI0_HUMAN	.	UPI000007000F	SNV	RPTOR,missense_variant,p.Cys562Tyr,ENST00000306801,;RPTOR,intron_variant,,ENST00000544334,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;	2047	84	56	SUCCESS
ATP5A1	0	.	GRCh37	18	43667458	43667458	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	230	0	ENST00000282050.2:c.800A>T	p.Asp267Val	p.D267V	ENST00000282050	NM_001001937.1	267	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS11927.1	800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATCTGAG	NONE	.	.	HAMAP:MF_01346,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF39,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00962,Pfam_domain:PF00006,Superfamily_domains:SSF52540	.	.	ENSP00000282050	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000282050	Transcript	.	.	ENSG00000152234	823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	deleterious_low_confidence(0)	.	ATPA_HUMAN	ATP5A1	HGNC	K7EQH4_HUMAN,K7ERX7_HUMAN,K7EK77_HUMAN,K7EJP1_HUMAN,B4DGW3_HUMAN	.	UPI000006221A	SNV	ATP5A1,missense_variant,p.Asp245Val,ENST00000590665,;ATP5A1,missense_variant,p.Asp267Val,ENST00000282050,;ATP5A1,missense_variant,p.Asp267Val,ENST00000398752,;ATP5A1,missense_variant,p.Asp217Val,ENST00000593152,;ATP5A1,missense_variant,p.Asp178Val,ENST00000589252,;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,splice_region_variant,,ENST00000590156,;ATP5A1,splice_region_variant,,ENST00000586592,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,intron_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;ATP5A1,upstream_gene_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;	945	230	79	SUCCESS
DCC	1630	.	GRCh37	18	50450198	50450198	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749223921	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	31	235	0	ENST00000442544.2:c.819G>T	p.Trp273Cys	p.W273C	ENST00000442544	NM_005215.3	273	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS11952.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGTTACG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000389140	.	4/29	.	.	.	.	.	.	.	.	rs749223921	4/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Trp273Cys,ENST00000442544,;DCC,missense_variant,p.Trp121Cys,ENST00000412726,;DCC,non_coding_transcript_exon_variant,,ENST00000584710,;DCC,missense_variant,p.Trp207Cys,ENST00000304775,;DCC,non_coding_transcript_exon_variant,,ENST00000579883,;	1435	235	119	SUCCESS
MYO9B	4650	.	GRCh37	19	17298831	17298831	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	41	340	1	ENST00000594824.1:c.2665T>C	p.Tyr889His	p.Y889H	ENST00000594824		889	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS46010.1	2665	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGGTACAGC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000471457	.	19/40	.	.	.	.	.	.	.	.	.	19/40	PASS	ENST00000595618	Transcript	1	.	ENSG00000099331	7609	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYO9B_HUMAN	MYO9B	HGNC	Q4LE74_HUMAN	.	UPI000020367C	SNV	MYO9B,missense_variant,p.Tyr889His,ENST00000595641,;MYO9B,missense_variant,p.Tyr889His,ENST00000397274,;MYO9B,missense_variant,p.Tyr889His,ENST00000595618,;MYO9B,missense_variant,p.Tyr889His,ENST00000594824,;MYO9B,downstream_gene_variant,,ENST00000602177,;MYO9B,downstream_gene_variant,,ENST00000594971,;MYO9B,downstream_gene_variant,,ENST00000601749,;MYO9B,downstream_gene_variant,,ENST00000601490,;MYO9B,downstream_gene_variant,,ENST00000598101,;MYO9B,downstream_gene_variant,,ENST00000598464,;	2817	342	136	SUCCESS
KIAA1683	0	.	GRCh37	19	18368011	18368011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	103	0	ENST00000392413.4:c.4083C>A	p.His1361Gln	p.H1361Q	ENST00000392413	NM_001145304.1	1361	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS46017.1	4083	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATGTGCCG	NONE	.	.	hmmpanther:PTHR22590:SF1,hmmpanther:PTHR22590	.	.	ENSP00000376213	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392413	Transcript	.	.	ENSG00000130518	29350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.09)	.	K1683_HUMAN	KIAA1683	HGNC	U3KQN7_HUMAN,U3KQG6_HUMAN	.	UPI000194EC26	SNV	KIAA1683,missense_variant,p.His1128Gln,ENST00000600359,;KIAA1683,missense_variant,p.His1174Gln,ENST00000600328,;KIAA1683,missense_variant,p.His1361Gln,ENST00000392413,;PDE4C,upstream_gene_variant,,ENST00000355502,;PDE4C,upstream_gene_variant,,ENST00000596647,;KIAA1683,non_coding_transcript_exon_variant,,ENST00000599638,;PDE4C,upstream_gene_variant,,ENST00000600667,;	4299	103	35	SUCCESS
SLC7A9	11136	.	GRCh37	19	33324221	33324221	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	36	373	0	ENST00000023064.4:c.1233A>T	p.Val411=	p.V411=	ENST00000023064	NM_014270.4	411	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12425.1	1233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTACGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF305,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000023064	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000023064	Transcript	1	.	ENSG00000021488	11067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAT1_HUMAN	SLC7A9	HGNC	K7EIF5_HUMAN	.	UPI0000037773	SNV	SLC7A9,synonymous_variant,p.%3D,ENST00000023064,;SLC7A9,synonymous_variant,p.%3D,ENST00000590341,;SLC7A9,synonymous_variant,p.%3D,ENST00000587772,;CTD-2085J24.3,downstream_gene_variant,,ENST00000590069,;SLC7A9,3_prime_UTR_variant,,ENST00000592232,;SLC7A9,3_prime_UTR_variant,,ENST00000590465,;TDRD12,downstream_gene_variant,,ENST00000564769,;	1425	373	129	SUCCESS
ZNF790	388536	.	GRCh37	19	37310028	37310028	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	88	0	ENST00000356725.4:c.1218C>T	p.Ser406=	p.S406=	ENST00000356725	NM_206894.3	406	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12496.1	1218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAGCTCCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349161	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000356725	Transcript	.	.	ENSG00000197863	33114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN790_HUMAN	ZNF790	HGNC	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN	.	UPI0000160EF0	SNV	ZNF790,synonymous_variant,p.%3D,ENST00000356725,;ZNF790,downstream_gene_variant,,ENST00000586323,;ZNF790,downstream_gene_variant,,ENST00000528994,;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;	1339	88	38	SUCCESS
ZNF790	388536	.	GRCh37	19	37310029	37310029	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750365504	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	89	0	ENST00000356725.4:c.1217G>A	p.Ser406Asn	p.S406N	ENST00000356725	NM_206894.3	406	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS12496.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCTCCAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349161	.	5/5	.	.	.	.	.	.	.	.	rs750365504	5/5	PASS	ENST00000356725	Transcript	.	.	ENSG00000197863	33114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.17)	.	ZN790_HUMAN	ZNF790	HGNC	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN	.	UPI0000160EF0	SNV	ZNF790,missense_variant,p.Ser406Asn,ENST00000356725,;ZNF790,downstream_gene_variant,,ENST00000586323,;ZNF790,downstream_gene_variant,,ENST00000528994,;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;	1338	90	38	SUCCESS
ZNF420	147923	.	GRCh37	19	37582003	37582003	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760437783	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	133	0	ENST00000337995.3:c.116A>G	p.Tyr39Cys	p.Y39C	ENST00000337995	NM_144689.3	39	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12498.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTATAGCA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000338770	.	4/5	.	.	.	.	.	.	.	.	rs760437783	4/5	PASS	ENST00000337995	Transcript	.	.	ENSG00000197050	20649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	ZN420_HUMAN	ZNF420	HGNC	K7ERS3_HUMAN,K7EQC9_HUMAN,K7ELF6_HUMAN	.	UPI000007049F	SNV	ZNF420,missense_variant,p.Tyr39Cys,ENST00000337995,;ZNF420,missense_variant,p.Tyr39Cys,ENST00000304239,;ZNF420,missense_variant,p.Tyr39Cys,ENST00000587029,;ZNF420,missense_variant,p.Tyr39Cys,ENST00000589245,;ZNF420,intron_variant,,ENST00000590332,;CTC-454I21.3,downstream_gene_variant,,ENST00000588873,;CTD-2293H3.1,upstream_gene_variant,,ENST00000588369,;ZNF420,missense_variant,p.Tyr39Cys,ENST00000587082,;ZNF420,missense_variant,p.Tyr39Cys,ENST00000589461,;	331	133	75	SUCCESS
ZNF880	400713	.	GRCh37	19	52887222	52887222	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	207	0	ENST00000422689.2:c.389G>A	p.Gly130Glu	p.G130E	ENST00000422689	NM_001145434.1	130	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS46164.1	389	MUTECT|MUSE	.	TTCTGGATGTA	NONE	.	.	hmmpanther:PTHR24377:SF108,hmmpanther:PTHR24377	.	.	ENSP00000406318	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(1)	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,missense_variant,p.Gly130Glu,ENST00000422689,;ZNF880,3_prime_UTR_variant,,ENST00000424032,;ZNF880,downstream_gene_variant,,ENST00000600321,;CTD-3018O17.3,downstream_gene_variant,,ENST00000594119,;	404	207	53	SUCCESS
MTOR	2475	.	GRCh37	1	11317091	11317091	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753584596	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	140	548	1	ENST00000361445.4:c.403A>G	p.Met135Val	p.M135V	ENST00000361445	NM_004958.3	135	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS127.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCATGGCAA	CODON|p.M135T|c.404T>C|4	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354558	.	4/58	.	.	.	.	.	.	.	.	rs753584596	4/58	PASS	ENST00000361445	Transcript	.	.	ENSG00000198793	3942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.67)	.	MTOR_HUMAN	MTOR	HGNC	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN	.	UPI000012ABD3	SNV	MTOR,missense_variant,p.Met135Val,ENST00000361445,;	480	550	205	SUCCESS
LRIG2	9860	.	GRCh37	1	113635842	113635842	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1317010200	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	22	210	0	ENST00000361127.5:c.320A>G	p.Asn107Ser	p.N107S	ENST00000361127	NM_014813.1	107	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS30808.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAATGAAC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF230,hmmpanther:PTHR24367,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000355396	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000361127	Transcript	.	.	ENSG00000198799	20889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious(0.01)	.	LRIG2_HUMAN	LRIG2	HGNC	.	.	UPI000006F613	SNV	LRIG2,missense_variant,p.Asn107Ser,ENST00000361127,;	518	210	102	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145281400	145281400	+	synonymous_variant	Silent	SNP	G	G	T	rs782168671	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	934	74	2139	0	ENST00000369340.3:c.330G>T	p.Leu110=	p.L110=	ENST00000369340		110	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS909.1	330	MUTECT|MUSE	.	TGCCTGTCTCA	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF43,hmmpanther:PTHR24033,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,Prints_domain:PR00010	.	.	ENSP00000358346	.	5/6	.	.	.	.	.	.	.	.	rs782168671	5/6	PASS	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,synonymous_variant,p.%3D,ENST00000369340,;NOTCH2NL,synonymous_variant,p.%3D,ENST00000362074,;NOTCH2NL,synonymous_variant,p.%3D,ENST00000344859,;RP11-458D21.5,synonymous_variant,p.%3D,ENST00000468030,;	774	2139	1008	SUCCESS
MAEL	84944	.	GRCh37	1	166990985	166990985	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1335168881	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	40	348	0	ENST00000367872.4:c.1198A>G	p.Ile400Val	p.I400V	ENST00000367872	NM_032858.1	400	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS1257.1	1198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCATTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21358,hmmpanther:PTHR21358:SF3	.	.	ENSP00000356846	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000367872	Transcript	.	.	ENSG00000143194	25929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.63)	.	MAEL_HUMAN	MAEL	HGNC	E9JVC4_HUMAN	.	UPI0000042202	SNV	MAEL,missense_variant,p.Ile369Val,ENST00000367870,;MAEL,missense_variant,p.Ile400Val,ENST00000367872,;MAEL,downstream_gene_variant,,ENST00000447624,;MAEL,non_coding_transcript_exon_variant,,ENST00000491055,;	1442	348	135	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17948399	17948422	+	inframe_deletion	In_Frame_Del	DEL	AAGGCAGCTACGTGGAGTCTCTGA	AAGGCAGCTACGTGGAGTCTCTGA	-	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	AAGGCAGCTACGTGGAGTCTCTGA	AAGGCAGCTACGTGGAGTCTCTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	184	0	ENST00000361221.3:c.984_1007del	p.Gly329_Lys336del	p.G329_K336del	ENST00000361221	NM_018125.3	328	gAAGGCAGCTACGTGGAGTCTCTGAag/gag	0	.	.	.	.	.	-	EGSYVESLK/E	protein_coding	YES	CCDS182.1	983-1006	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGG	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000355060	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	deletion	ARHGEF10L,inframe_deletion,p.Gly290_Lys297del,ENST00000375415,;ARHGEF10L,inframe_deletion,p.Gly87_Lys94del,ENST00000375420,;ARHGEF10L,inframe_deletion,p.Gly329_Lys336del,ENST00000361221,;ARHGEF10L,inframe_deletion,p.Gly329_Lys336del,ENST00000434513,;ARHGEF10L,inframe_deletion,p.Gly107_Lys114del,ENST00000375408,;ARHGEF10L,inframe_deletion,p.Gly107_Lys114del,ENST00000167825,;ARHGEF10L,inframe_deletion,p.Gly290_Lys297del,ENST00000452522,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,upstream_gene_variant,,ENST00000475356,;	1142-1165	184	65	SUCCESS
CACNA1E	777	.	GRCh37	1	181700363	181700363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	240	1	ENST00000367573.2:c.2293C>A	p.His765Asn	p.H765N	ENST00000367573	NM_001205293.1	765	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS55664.1	2293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCACCTG	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Low_complexity_(Seg):seg	.	.	ENSP00000356545	.	19/48	.	.	.	.	.	.	.	.	.	19/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	tolerated(0.44)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.His372Asn,ENST00000367567,;CACNA1E,missense_variant,p.His716Asn,ENST00000357570,;CACNA1E,missense_variant,p.His765Asn,ENST00000367573,;CACNA1E,missense_variant,p.His765Asn,ENST00000367570,;CACNA1E,intron_variant,,ENST00000358338,;CACNA1E,intron_variant,,ENST00000360108,;CACNA1E,intron_variant,,ENST00000526775,;	2293	242	111	SUCCESS
UBR4	23352	.	GRCh37	1	19483269	19483269	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	70	311	0	ENST00000375254.3:c.5911G>A	p.Gly1971Arg	p.G1971R	ENST00000375254	NM_020765.2	1971	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS189.1	5911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCCACAAA	NONE	.	.	Superfamily_domains:SSF50978,hmmpanther:PTHR21725	.	.	ENSP00000364403	.	41/106	.	.	.	.	.	.	.	.	.	41/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,missense_variant,p.Gly681Arg,ENST00000417040,;UBR4,missense_variant,p.Gly1971Arg,ENST00000375254,;UBR4,missense_variant,p.Gly1971Arg,ENST00000375217,;UBR4,missense_variant,p.Gly1971Arg,ENST00000375267,;UBR4,missense_variant,p.Gly1971Arg,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000497018,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	5939	311	141	SUCCESS
OBSCN	84033	.	GRCh37	1	228538636	228538636	+	synonymous_variant	Silent	SNP	G	G	A	rs372931114	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	47	201	1	ENST00000422127.1:c.18411G>A	p.Pro6137=	p.P6137=	ENST00000422127	NM_001098623.2	6137	ccG/ccA	0	T:0	T:0	.	T:0.0058	.	A	P	protein_coding	YES	CCDS59204.1	21282	RADIA|SOMATICSNIPER|VARSCANS	.	TACCCGCAGAT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	T:0.0006	ENSP00000455507	T:0	88/116	.	.	.	.	.	.	.	.	rs372931114	88/116	PASS	ENST00000570156	Transcript	.	T:0.0008	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000441106,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,upstream_gene_variant,,ENST00000474237,;	21356	203	132	SUCCESS
LYST	1130	.	GRCh37	1	235964399	235964399	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	43	0	ENST00000389793.2:c.3713-2A>T		p.X1238_splice	ENST00000389793	NM_000081.3	1238		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTGAAAA	NONE	.	.	.	.	.	ENSP00000374444	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	HIGH	8/52	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,splice_acceptor_variant,,ENST00000536965,;LYST,splice_acceptor_variant,,ENST00000389793,;LYST,splice_acceptor_variant,,ENST00000389794,;LYST,splice_acceptor_variant,,ENST00000489585,;LYST,splice_acceptor_variant,,ENST00000465349,;	.	43	17	SUCCESS
CHRM3	1131	.	GRCh37	1	240072344	240072344	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	339	0	ENST00000255380.4:c.1593G>C	p.Trp531Cys	p.W531C	ENST00000255380	NM_000740.2	531	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS1616.1	1593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGGCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00243	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Trp531Cys,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	2372	339	88	SUCCESS
OR2M3	127062	.	GRCh37	1	248367191	248367191	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	30	271	1	ENST00000456743.1:c.822G>T	p.Val274=	p.V274=	ENST00000456743	NM_001004689.1	274	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31107.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGTCTGT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000389625	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000456743	Transcript	.	.	ENSG00000228198	8269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,synonymous_variant,p.%3D,ENST00000456743,;	860	272	134	SUCCESS
ELTD1	0	.	GRCh37	1	79403627	79403627	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	133	1	ENST00000370742.3:c.625G>A	p.Val209Ile	p.V209I	ENST00000370742	NM_022159.3	209	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS41352.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAACTACAA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF12003	.	.	ENSP00000359778	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.49)	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Val209Ile,ENST00000370742,;	689	134	70	SUCCESS
HS2ST1	9653	.	GRCh37	1	87563541	87563544	+	frameshift_variant	Frame_Shift_Del	DEL	AGAA	AGAA	GAC	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	AGAA	AGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	117	23	251	0	ENST00000370550.5:c.609_612delinsGAC	p.Glu204ThrfsTer41	p.E204Tfs*41	ENST00000370550	NM_012262.3	203	gcAGAA/gcGAC	0	.	.	.	.	.	GAC	AE/AX	protein_coding	YES	CCDS711.1	609-612	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	TGTAGCAGAAGGTGG	NONE	.	.	hmmpanther:PTHR12129:SF14,hmmpanther:PTHR12129,Pfam_domain:PF03567,Superfamily_domains:SSF52540	.	.	ENSP00000359581	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000370550	Transcript	.	.	ENSG00000153936	5193	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HS2ST_HUMAN	HS2ST1	HGNC	K7EP71_HUMAN	.	UPI0000073F43	substitution	HS2ST1,frameshift_variant,p.Glu204ThrfsTer41,ENST00000370550,;RP5-1052I5.2,frameshift_variant,p.Glu178ThrfsTer41,ENST00000370548,;HS2ST1,frameshift_variant,p.Glu178ThrfsTer41,ENST00000356813,;HS2ST1,frameshift_variant,p.Glu204ThrfsTer35,ENST00000370551,;	972-975	251	140	SUCCESS
ABCA4	24	.	GRCh37	1	94577092	94577092	+	synonymous_variant	Silent	SNP	C	C	T	rs201725352	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	40	158	0	ENST00000370225.3:c.204G>A	p.Pro68=	p.P68=	ENST00000370225	NM_000350.2	68	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS747.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACGGCAG	NONE	byCluster	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	3/50	.	.	.	.	.	.	.	.	rs201725352	3/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,synonymous_variant,p.%3D,ENST00000370225,;ABCA4,synonymous_variant,p.%3D,ENST00000535735,;	291	158	81	SUCCESS
RBM39	9584	.	GRCh37	20	34319990	34319990	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	127	0	ENST00000253363.6:c.169C>T	p.Arg57Ter	p.R57*	ENST00000253363		57	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS13266.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGCTTCC	NONE	.	.	Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01622	.	.	ENSP00000253363	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000253363	Transcript	.	.	ENSG00000131051	15923	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM39_HUMAN	RBM39	HGNC	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN	.	UPI0000134418	SNV	RBM39,stop_gained,p.Arg57Ter,ENST00000528062,;RBM39,stop_gained,p.Arg57Ter,ENST00000434927,;RBM39,stop_gained,p.Arg57Ter,ENST00000361162,;RBM39,stop_gained,p.Arg45Ter,ENST00000426951,;RBM39,stop_gained,p.Arg57Ter,ENST00000253363,;RBM39,stop_gained,p.Arg57Ter,ENST00000374038,;RBM39,5_prime_UTR_variant,,ENST00000407261,;RBM39,upstream_gene_variant,,ENST00000448303,;RBM39,downstream_gene_variant,,ENST00000397370,;RBM39,non_coding_transcript_exon_variant,,ENST00000487604,;RBM39,non_coding_transcript_exon_variant,,ENST00000442447,;RBM39,downstream_gene_variant,,ENST00000498280,;RBM39,stop_gained,p.Arg57Ter,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000455343,;RBM39,3_prime_UTR_variant,,ENST00000449489,;RBM39,3_prime_UTR_variant,,ENST00000412738,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000433027,;RBM39,3_prime_UTR_variant,,ENST00000416108,;RBM39,3_prime_UTR_variant,,ENST00000425184,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000481037,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000477334,;RBM39,downstream_gene_variant,,ENST00000453310,;RBM39,downstream_gene_variant,,ENST00000416529,;	193	127	50	SUCCESS
TTI1	9675	.	GRCh37	20	36634716	36634716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	182	0	ENST00000373447.3:c.2386C>T	p.Pro796Ser	p.P796S	ENST00000373447		796	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS13300.1	2386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGTCTTT	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460	.	.	ENSP00000362547	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000373448	Transcript	.	.	ENSG00000101407	29029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.5)	.	TTI1_HUMAN	TTI1	HGNC	D6W4K3_HUMAN	.	UPI000012DB27	SNV	TTI1,missense_variant,p.Pro796Ser,ENST00000449821,;TTI1,missense_variant,p.Pro796Ser,ENST00000373447,;TTI1,missense_variant,p.Pro796Ser,ENST00000373448,;	2625	182	89	SUCCESS
MAVS	57506	.	GRCh37	20	3845200	3845200	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	199	0	ENST00000428216.2:c.923T>C	p.Val308Ala	p.V308A	ENST00000428216	NM_020746.4	308	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33437.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTGGCCC	NONE	.	.	hmmpanther:PTHR21446:SF3,hmmpanther:PTHR21446	.	.	ENSP00000401980	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000428216	Transcript	.	.	ENSG00000088888	29233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	tolerated(0.39)	.	MAVS_HUMAN	MAVS	HGNC	M1P2Z0_HUMAN	.	UPI000015F983	SNV	MAVS,missense_variant,p.Val167Ala,ENST00000416600,;MAVS,missense_variant,p.Val308Ala,ENST00000428216,;MAVS,3_prime_UTR_variant,,ENST00000358134,;	1051	200	62	SUCCESS
SREBF2	6721	.	GRCh37	22	42271606	42271606	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751254073	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	225	0	ENST00000361204.4:c.1264G>A	p.Glu422Lys	p.E422K	ENST00000361204	NM_004599.3	422	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14023.1	1264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGAGGAC	NONE	.	.	hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565	.	.	ENSP00000354476	.	7/19	.	.	.	.	.	.	.	.	rs751254073	7/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious(0.05)	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	SNV	SREBF2,missense_variant,p.Glu422Lys,ENST00000361204,;SREBF2,missense_variant,p.Glu422Lys,ENST00000424354,;SREBF2,non_coding_transcript_exon_variant,,ENST00000464119,;SREBF2,non_coding_transcript_exon_variant,,ENST00000462539,;	1430	226	76	SUCCESS
SHANK3	85358	.	GRCh37	22	51169547	51169547	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	76	0	ENST00000262795.3:c.5051G>T	p.Trp1684Leu	p.W1684L	ENST00000262795	NM_033517.1	1684	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	.	5051	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCTCTGGAGCA	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000442518	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000262795	Transcript	.	.	ENSG00000251322	14294	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	.	SHANK3	HGNC	F8TCV3_HUMAN,F2Z3L0_HUMAN	.	UPI0000DD85FB	SNV	SHANK3,missense_variant,p.Trp1684Leu,ENST00000262795,;SHANK3,missense_variant,p.Trp1679Leu,ENST00000445220,;SHANK3,missense_variant,p.Trp1663Leu,ENST00000414786,;AC000036.4,downstream_gene_variant,,ENST00000449652,;	5051	76	16	SUCCESS
CCDC138	165055	.	GRCh37	2	109405347	109405347	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	126	0	ENST00000295124.4:c.191C>A	p.Ser64Ter	p.S64*	ENST00000295124	NM_144978.1	64	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS2080.1	191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCGTTAA	NONE	.	.	.	.	.	ENSP00000295124	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000295124	Transcript	.	.	ENSG00000163006	26531	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC138_HUMAN	CCDC138	HGNC	.	.	UPI000006E2CB	SNV	CCDC138,stop_gained,p.Ser64Ter,ENST00000295124,;CCDC138,stop_gained,p.Ser64Ter,ENST00000412964,;CCDC138,upstream_gene_variant,,ENST00000456512,;RANBP2,downstream_gene_variant,,ENST00000283195,;CCDC138,non_coding_transcript_exon_variant,,ENST00000470608,;CCDC138,stop_gained,p.Ser64Ter,ENST00000409529,;CCDC138,missense_variant,p.Arg45Ser,ENST00000447782,;	251	126	45	SUCCESS
DPP10	57628	.	GRCh37	2	116497381	116497381	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758693945	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	48	380	0	ENST00000410059.1:c.764T>C	p.Met255Thr	p.M255T	ENST00000410059	NM_001178037.1	255	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS54388.1	776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGATGATAA	NONE	byFrequency	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	.	ENSP00000376855	.	9/26	.	.	.	.	.	.	.	.	rs758693945	9/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Met259Thr,ENST00000393147,;DPP10,missense_variant,p.Met205Thr,ENST00000409163,;DPP10,missense_variant,p.Met251Thr,ENST00000393146,;DPP10,missense_variant,p.Met248Thr,ENST00000310323,;DPP10,missense_variant,p.Met255Thr,ENST00000410059,;DPP10,downstream_gene_variant,,ENST00000488208,;	1131	380	177	SUCCESS
LRP1B	53353	.	GRCh37	2	141122263	141122263	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	41	181	1	ENST00000389484.3:c.11098G>T	p.Gly3700Ter	p.G3700*	ENST00000389484	NM_018557.2	3700	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS2182.1	11098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCACAGT	NONE	.	.	PROSITE_profiles:PS50068,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000374135	.	72/91	.	.	.	.	.	.	.	.	.	72/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,stop_gained,p.Gly3700Ter,ENST00000389484,;	12070	183	140	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209190271	209190271	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	142	0	ENST00000264380.4:c.2736C>T	p.Pro912=	p.P912=	ENST00000264380	NM_015040.3	912	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2382.1	2736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCTGGGA	NONE	.	.	hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	.	.	ENSP00000264380	.	20/42	.	.	.	.	.	.	.	.	.	20/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,synonymous_variant,p.%3D,ENST00000452564,;PIKFYVE,synonymous_variant,p.%3D,ENST00000264380,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	2894	142	59	SUCCESS
USP40	55230	.	GRCh37	2	234438104	234438104	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	52	0	ENST00000251722.6:c.1523C>A	p.Ala508Glu	p.A508E	ENST00000251722		508	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS46547.1	1559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGCATCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006	.	.	ENSP00000415434	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.93)	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,missense_variant,p.Ala508Glu,ENST00000251722,;USP40,missense_variant,p.Ala508Glu,ENST00000427112,;USP40,missense_variant,p.Ala520Glu,ENST00000450966,;USP40,non_coding_transcript_exon_variant,,ENST00000485943,;	1559	52	22	SUCCESS
CLIP4	79745	.	GRCh37	2	29366660	29366660	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs770539151	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	38	345	0	ENST00000320081.5:c.734A>G	p.Lys245Arg	p.K245R	ENST00000320081	NM_024692.4	245	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1770.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTAAGGAAA	NONE	.	.	hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32	.	.	ENSP00000327009	.	7/16	.	.	.	.	.	.	.	.	rs770539151	7/16	PASS	ENST00000320081	Transcript	.	.	ENSG00000115295	26108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.09)	.	CLIP4_HUMAN	CLIP4	HGNC	Q53QT5_HUMAN,Q4ZFY2_HUMAN,E7EW06_HUMAN,C9IYE4_HUMAN,A8K6D0_HUMAN	.	UPI000006F0E8	SNV	CLIP4,missense_variant,p.Lys245Arg,ENST00000401605,;CLIP4,missense_variant,p.Lys245Arg,ENST00000320081,;CLIP4,missense_variant,p.Lys245Arg,ENST00000404424,;CLIP4,missense_variant,p.Lys138Arg,ENST00000401617,;CLIP4,missense_variant,p.Lys245Arg,ENST00000415891,;CLIP4,3_prime_UTR_variant,,ENST00000456385,;	989	345	137	SUCCESS
XDH	7498	.	GRCh37	2	31609400	31609400	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	157	0	ENST00000379416.3:c.673A>G	p.Lys225Glu	p.K225E	ENST00000379416	NM_000379.3	225	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS1775.1	673	RADIA|MUTECT|MUSE	.	CTGCTTCCGAG	NONE	.	.	Superfamily_domains:SSF56176,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,Gene3D:3.30.43.10,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908	.	.	ENSP00000368727	.	9/36	.	.	.	.	.	.	.	.	.	9/36	PASS	ENST00000379416	Transcript	.	.	ENSG00000158125	12805	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.41)	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,missense_variant,p.Lys225Glu,ENST00000379416,;XDH,non_coding_transcript_exon_variant,,ENST00000491727,;XDH,upstream_gene_variant,,ENST00000476043,;	722	157	51	SUCCESS
XDH	7498	.	GRCh37	2	31609402	31609402	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs112466737	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	156	0	ENST00000379416.3:c.671G>C	p.Arg224Pro	p.R224P	ENST00000379416	NM_000379.3	224	cGg/cCg	0	T:0.0014	T:0.0023	.	T:0	.	G	R/P	protein_coding	YES	CCDS1775.1	671	RADIA|MUTECT|MUSE	.	GCTTCCGAGGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF56176,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908	T:0	T:0	ENSP00000368727	T:0	9/36	.	.	.	.	.	.	.	.	rs112466737	9/36	PASS	ENST00000379416	Transcript	.	T:0.0006	ENSG00000158125	12805	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	T:0	tolerated(0.21)	.	XDH_HUMAN	XDH	HGNC	Q585T6_HUMAN	.	UPI0000036BC9	SNV	XDH,missense_variant,p.Arg224Pro,ENST00000379416,;XDH,non_coding_transcript_exon_variant,,ENST00000491727,;XDH,upstream_gene_variant,,ENST00000476043,;	720	156	50	SUCCESS
EMX1	2016	.	GRCh37	2	73160942	73160942	+	synonymous_variant	Silent	SNP	G	G	A	rs1403470941	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	150	0	ENST00000258106.6:c.732G>A	p.Arg244=	p.R244=	ENST00000258106	NM_004097.2	244	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1921.2	732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGGACAAA	NONE	.	.	Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,PROSITE_patterns:PS00027,hmmpanther:PTHR24339:SF26,hmmpanther:PTHR24339,PROSITE_profiles:PS50071	.	.	ENSP00000258106	.	3/3	.	.	.	.	.	.	.	.	COSM1306977	3/3	PASS	ENST00000258106	Transcript	.	.	ENSG00000135638	3340	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	EMX1_HUMAN	EMX1	HGNC	.	.	UPI0000D47CF7	SNV	EMX1,missense_variant,p.Asp179Asn,ENST00000464675,;EMX1,synonymous_variant,p.%3D,ENST00000258106,;EMX1,non_coding_transcript_exon_variant,,ENST00000491023,;EMX1,non_coding_transcript_exon_variant,,ENST00000394111,;	1110	150	52	SUCCESS
NAT8	9027	.	GRCh37	2	73868277	73868277	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766541577	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	270	0	ENST00000272425.3:c.479C>A	p.Thr160Asn	p.T160N	ENST00000272425	NM_003960.3	160	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS1926.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGTCCTG	NONE	.	.	PROSITE_profiles:PS51186,hmmpanther:PTHR13947:SF14,hmmpanther:PTHR13947,Pfam_domain:PF00583,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000272425	.	2/2	.	.	.	.	.	.	.	.	rs766541577,COSM1022853	2/2	PASS	ENST00000272425	Transcript	.	.	ENSG00000144035	18069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.803)	.	deleterious(0)	0,1	NAT8_HUMAN	NAT8	HGNC	.	.	UPI00000707D4	SNV	NAT8,missense_variant,p.Thr160Asn,ENST00000272425,;ALMS1P,upstream_gene_variant,,ENST00000450720,;	629	271	98	SUCCESS
ZPLD1	131368	.	GRCh37	3	102175049	102175049	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	127	0	ENST00000466937.1:c.340C>T	p.Pro114Ser	p.P114S	ENST00000466937		114	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2947.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCCTGGA	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962,PROSITE_profiles:PS51034	.	.	ENSP00000307801	.	4/11	.	.	.	.	.	.	.	.	COSM3584714	4/11	PASS	ENST00000306176	Transcript	.	.	ENSG00000170044	27022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.287)	.	tolerated(0.4)	1	ZPLD1_HUMAN	ZPLD1	HGNC	.	.	UPI000006EC89	SNV	ZPLD1,missense_variant,p.Pro114Ser,ENST00000466937,;ZPLD1,missense_variant,p.Pro130Ser,ENST00000306176,;ZPLD1,missense_variant,p.Pro114Ser,ENST00000491959,;	488	127	47	SUCCESS
EPHB1	2047	.	GRCh37	3	134920510	134920510	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	54	358	1	ENST00000398015.3:c.2325T>G	p.Asp775Glu	p.D775E	ENST00000398015	NM_004441.4	775	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS46921.1	2325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATCCCAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000381097	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000398015	Transcript	.	.	ENSG00000154928	3392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.81)	.	EPHB1_HUMAN	EPHB1	HGNC	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN	.	UPI000012A07E	SNV	EPHB1,missense_variant,p.Asp336Glu,ENST00000493838,;EPHB1,missense_variant,p.Asp775Glu,ENST00000398015,;	2695	359	157	SUCCESS
PAQR9	344838	.	GRCh37	3	142682019	142682019	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	103	0	ENST00000340634.3:c.160T>G	p.Phe54Val	p.F54V	ENST00000340634	NM_198504.2	54	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS3128.1	160	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACGAAGTCGT	NONE	.	.	hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF29	.	.	ENSP00000341564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340634	Transcript	.	.	ENSG00000188582	30131	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.806)	.	tolerated(1)	.	PAQR9_HUMAN	PAQR9	HGNC	.	.	UPI00000620A1	SNV	PAQR9,missense_variant,p.Phe54Val,ENST00000340634,;U2SURP,upstream_gene_variant,,ENST00000600150,;PAQR9,upstream_gene_variant,,ENST00000492509,;PAQR9,upstream_gene_variant,,ENST00000498470,;RP11-372E1.6,intron_variant,,ENST00000608686,;RP11-372E1.6,intron_variant,,ENST00000594095,;RP11-372E1.6,upstream_gene_variant,,ENST00000598787,;RP11-372E1.6,upstream_gene_variant,,ENST00000593321,;RP11-372E1.6,upstream_gene_variant,,ENST00000478823,;RP11-372E1.6,upstream_gene_variant,,ENST00000493825,;RP11-372E1.6,upstream_gene_variant,,ENST00000598139,;RP11-372E1.6,upstream_gene_variant,,ENST00000607937,;RP11-372E1.6,upstream_gene_variant,,ENST00000595248,;RP11-372E1.6,upstream_gene_variant,,ENST00000497652,;RP11-372E1.6,upstream_gene_variant,,ENST00000608349,;RP11-372E1.6,upstream_gene_variant,,ENST00000595774,;RP11-372E1.7,downstream_gene_variant,,ENST00000468434,;	160	103	62	SUCCESS
DHX36	170506	.	GRCh37	3	154042052	154042052	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	68	0	ENST00000496811.1:c.154C>T	p.Arg52Trp	p.R52W	ENST00000496811	NM_020865.2	52	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3171.1	154	MUTECT|MUSE	.	ATGCCGGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF100	.	.	ENSP00000417078	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000496811	Transcript	.	.	ENSG00000174953	14410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.689)	.	deleterious(0)	.	DHX36_HUMAN	DHX36	HGNC	E7EWK3_HUMAN	.	UPI000013ED25	SNV	DHX36,missense_variant,p.Arg52Trp,ENST00000496811,;DHX36,missense_variant,p.Arg52Trp,ENST00000544526,;DHX36,missense_variant,p.Arg52Trp,ENST00000308361,;DHX36,missense_variant,p.Arg52Trp,ENST00000329463,;DHX36,upstream_gene_variant,,ENST00000481941,;DHX36,upstream_gene_variant,,ENST00000491011,;	235	68	28	SUCCESS
ECE2	9718	.	GRCh37	3	183995039	183995039	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	238	0	ENST00000402825.3:c.617A>G	p.Asp206Gly	p.D206G	ENST00000402825	NM_014693.3	206	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3256.2	617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGACCCAT	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122	.	.	ENSP00000384223	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.06)	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	SNV	ECE2,missense_variant,p.Asp59Gly,ENST00000359140,;ECE2,missense_variant,p.Asp134Gly,ENST00000357474,;ECE2,missense_variant,p.Asp88Gly,ENST00000404464,;ECE2,missense_variant,p.Asp80Gly,ENST00000430587,;ECE2,missense_variant,p.Asp206Gly,ENST00000402825,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,splice_region_variant,,ENST00000488401,;ECE2,splice_region_variant,,ENST00000490579,;ECE2,3_prime_UTR_variant,,ENST00000422932,;ECE2,non_coding_transcript_exon_variant,,ENST00000474750,;ECE2,upstream_gene_variant,,ENST00000462596,;	617	238	60	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268760	41268760	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	98	0	ENST00000349496.5:c.998A>T	p.Tyr333Phe	p.Y333F	ENST00000349496	NM_001904.3	333	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS2694.1	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTACGAAA	BUFFER|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0.01)	.	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Tyr333Phe,ENST00000349496,;CTNNB1,missense_variant,p.Tyr333Phe,ENST00000396185,;CTNNB1,missense_variant,p.Tyr333Phe,ENST00000405570,;CTNNB1,missense_variant,p.Tyr326Phe,ENST00000453024,;CTNNB1,missense_variant,p.Tyr333Phe,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1278	98	33	SUCCESS
FAM200B	285550	.	GRCh37	4	15689295	15689295	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747744015	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	45	0	ENST00000422728.2:c.695G>A	p.Ser232Asn	p.S232N	ENST00000422728	NM_001145191.1	232	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS47028.1	695	MUTECT|MUSE	.	TGAAAGCACTG	NONE	.	.	hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF93	.	.	ENSP00000393017	.	2/2	.	.	.	.	.	.	.	.	rs747744015	2/2	PASS	ENST00000422728	Transcript	.	.	ENSG00000237765	27740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.06)	.	F200B_HUMAN	FAM200B	HGNC	D6RAC6_HUMAN	.	UPI0000160C4C	SNV	FAM200B,missense_variant,p.Ser232Asn,ENST00000422728,;FAM200B,downstream_gene_variant,,ENST00000503617,;FAM200B,intron_variant,,ENST00000515697,;FAM200B,intron_variant,,ENST00000504598,;FAM200B,intron_variant,,ENST00000504823,;FAM200B,intron_variant,,ENST00000506610,;FAM200B,intron_variant,,ENST00000505260,;FAM200B,intron_variant,,ENST00000502856,;FAM200B,intron_variant,,ENST00000504137,;FAM200B,intron_variant,,ENST00000503600,;FAM200B,downstream_gene_variant,,ENST00000502502,;FAM200B,downstream_gene_variant,,ENST00000509022,;FAM200B,downstream_gene_variant,,ENST00000514803,;FAM200B,downstream_gene_variant,,ENST00000515430,;FAM200B,downstream_gene_variant,,ENST00000510186,;FAM200B,downstream_gene_variant,,ENST00000510032,;FAM200B,downstream_gene_variant,,ENST00000507305,;FAM200B,downstream_gene_variant,,ENST00000513053,;FAM200B,downstream_gene_variant,,ENST00000507992,;FAM200B,downstream_gene_variant,,ENST00000508567,;FAM200B,downstream_gene_variant,,ENST00000512855,;FAM200B,downstream_gene_variant,,ENST00000510920,;	1533	45	13	SUCCESS
CPE	1363	.	GRCh37	4	166388853	166388853	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	72	1	ENST00000402744.4:c.518A>G	p.Lys173Arg	p.K173R	ENST00000402744	NM_001873.2	173	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS3810.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAAGGACT	NONE	.	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF41	.	.	ENSP00000386104	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000402744	Transcript	.	.	ENSG00000109472	2303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	tolerated(0.35)	.	CBPE_HUMAN	CPE	HGNC	D6RF88_HUMAN,D6R930_HUMAN,C9JE88_HUMAN	.	UPI000000163E	SNV	CPE,missense_variant,p.Lys61Arg,ENST00000431967,;CPE,missense_variant,p.Lys61Arg,ENST00000511992,;CPE,missense_variant,p.Lys61Arg,ENST00000513982,;CPE,missense_variant,p.Lys173Arg,ENST00000402744,;	798	73	33	SUCCESS
PCDH7	5099	.	GRCh37	4	30726026	30726026	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370196952	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	204	0	ENST00000361762.2:c.2982G>T	p.Arg994Ser	p.R994S	ENST00000361762	NM_002589.2	994	agG/agT	0	T:0	.	.	.	.	T	R/S	protein_coding	YES	CCDS54753.1	2982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGCATTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Pfam_domain:PF08374	.	T:0.0001	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	rs370196952	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Arg684Ser,ENST00000511884,;PCDH7,missense_variant,p.Arg994Ser,ENST00000543491,;PCDH7,missense_variant,p.Arg994Ser,ENST00000361762,;PCDH7,intron_variant,,ENST00000507864,;	2982	204	90	SUCCESS
PDS5A	23244	.	GRCh37	4	39902096	39902096	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	80	0	ENST00000303538.8:c.1531A>G	p.Met511Val	p.M511V	ENST00000303538	NM_001100399.1	511	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS47045.1	1531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCATGTTCT	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2,Superfamily_domains:SSF48371	.	.	ENSP00000303427	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	tolerated(0.49)	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,missense_variant,p.Met511Val,ENST00000503396,;PDS5A,missense_variant,p.Met149Val,ENST00000513798,;PDS5A,missense_variant,p.Met511Val,ENST00000303538,;PDS5A,3_prime_UTR_variant,,ENST00000512643,;PDS5A,downstream_gene_variant,,ENST00000503867,;	2071	80	28	SUCCESS
ANKRD17	26057	.	GRCh37	4	74008379	74008384	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCCA	GCCCCA	CCCCC	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	GCCCCA	GCCCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	92	0	ENST00000358602.4:c.2058_2063delinsGGGGG	p.His686GlnfsTer9	p.H686Qfs*9	ENST00000358602	NM_032217.3	686	caTGGGGCa/caGGGGGa	0	.	.	.	.	.	CCCCC	HGA/QGX	protein_coding	YES	CCDS34004.1	2058-2063	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGATCTGCCCCATGAGC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000351416	.	12/34	.	.	.	.	.	.	.	.	.	12/34	PASS	ENST00000358602	Transcript	.	.	ENSG00000132466	23575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR17_HUMAN	ANKRD17	HGNC	.	.	UPI00002263B0	substitution	ANKRD17,frameshift_variant,p.His686GlnfsTer9,ENST00000358602,;ANKRD17,frameshift_variant,p.His573GlnfsTer9,ENST00000509867,;ANKRD17,frameshift_variant,p.His686GlnfsTer9,ENST00000330838,;ANKRD17,frameshift_variant,p.His571GlnfsTer9,ENST00000558247,;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,frameshift_variant,p.His504GlnfsTer9,ENST00000560372,;	2175-2180	92	73	SUCCESS
ALB	213	.	GRCh37	4	74270000	74270000	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs375806262	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	131	0	ENST00000295897.4:c.-45T>G		p.*15*	ENST00000295897	NM_000477.5			0	C:0	.	.	.	.	G	.	protein_coding	YES	CCDS3555.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTTGTCCT	NONE	byFrequency|byCluster	.	.	.	C:0.0007	ENSP00000295897	.	1/15	.	.	.	.	.	.	.	.	rs375806262	1/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,5_prime_UTR_variant,,ENST00000295897,;ALB,intron_variant,,ENST00000441319,;ALB,upstream_gene_variant,,ENST00000509063,;ALB,upstream_gene_variant,,ENST00000415165,;ALB,upstream_gene_variant,,ENST00000503124,;ALB,upstream_gene_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000514786,;ALB,upstream_gene_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000515133,;	45	131	44	SUCCESS
ALB	213	.	GRCh37	4	74283835	74283835	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	126	0	ENST00000295897.4:c.1459T>G	p.Leu487Val	p.L487V	ENST00000295897	NM_000477.5	487	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3555.1	1459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGTTGCAT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.15)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Leu487Val,ENST00000509063,;ALB,missense_variant,p.Leu332Val,ENST00000511370,;ALB,missense_variant,p.Leu295Val,ENST00000415165,;ALB,missense_variant,p.Leu487Val,ENST00000295897,;ALB,missense_variant,p.Leu337Val,ENST00000503124,;ALB,missense_variant,p.Leu372Val,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1548	126	47	SUCCESS
PTPN13	5783	.	GRCh37	4	87655497	87655497	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	89	0	ENST00000411767.2:c.1900A>G	p.Lys634Glu	p.K634E	ENST00000411767		634	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS47093.1	1900	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAACCAAAGTG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,Gene3D:3.10.20.90,Pfam_domain:PF09379,PIRSF_domain:PIRSF000933,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000394794	.	13/48	.	.	.	.	.	.	.	.	.	13/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Lys634Glu,ENST00000411767,;PTPN13,missense_variant,p.Lys634Glu,ENST00000436978,;PTPN13,missense_variant,p.Lys634Glu,ENST00000316707,;PTPN13,missense_variant,p.Lys634Glu,ENST00000511467,;PTPN13,missense_variant,p.Lys634Glu,ENST00000427191,;	2380	89	33	SUCCESS
GPRIN3	285513	.	GRCh37	4	90171127	90171127	+	synonymous_variant	Silent	SNP	A	A	G	rs372513468	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	131	0	ENST00000333209.4:c.135T>C	p.Asn45=	p.N45=	ENST00000333209		45	aaT/aaC	0	G:0.0002	G:0	.	G:0.0029	.	G	N	protein_coding	YES	CCDS34030.1	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCATTGGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15718:SF2,hmmpanther:PTHR15718	G:0	G:0	ENSP00000476603	G:0	2/2	.	.	.	.	.	.	.	.	rs372513468	2/2	PASS	ENST00000609438	Transcript	.	G:0.0004	ENSG00000185477	27733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	.	GPRIN3	HGNC	.	.	UPI00001C1E20	SNV	GPRIN3,synonymous_variant,p.%3D,ENST00000609438,;GPRIN3,synonymous_variant,p.%3D,ENST00000333209,;	654	131	58	SUCCESS
CREBRF	153222	.	GRCh37	5	172517412	172517412	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	50	366	1	ENST00000296953.2:c.230T>G	p.Val77Gly	p.V77G	ENST00000296953	NM_153607.2	77	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS34293.1	230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTCCTGG	NONE	.	.	hmmpanther:PTHR21552	.	.	ENSP00000296953	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000296953	Transcript	.	.	ENSG00000164463	24050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious_low_confidence(0.01)	.	CRERF_HUMAN	CREBRF	HGNC	E5RI19_HUMAN,B3KV47_HUMAN	.	UPI000049E01D	SNV	CREBRF,missense_variant,p.Val77Gly,ENST00000520420,;CREBRF,missense_variant,p.Val77Gly,ENST00000540014,;CREBRF,missense_variant,p.Val77Gly,ENST00000522692,;CREBRF,missense_variant,p.Val77Gly,ENST00000296953,;CREBRF,downstream_gene_variant,,ENST00000523161,;CREBRF,non_coding_transcript_exon_variant,,ENST00000520464,;CDC42P5,upstream_gene_variant,,ENST00000518654,;	549	367	144	SUCCESS
GPRIN1	114787	.	GRCh37	5	176024063	176024063	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754414133	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	17	0	ENST00000303991.4:c.2773T>C	p.Tyr925His	p.Y925H	ENST00000303991	NM_052899.2	925	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS4405.1	2773	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCCGTATACCT	NONE	.	.	hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30,Pfam_domain:PF15235	.	.	ENSP00000305839	.	2/2	.	.	.	.	.	.	.	.	rs754414133	2/2	PASS	ENST00000303991	Transcript	.	.	ENSG00000169258	24835	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GRIN1_HUMAN	GPRIN1	HGNC	.	.	UPI0000246D49	SNV	GPRIN1,missense_variant,p.Tyr925His,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000261944,;CDHR2,downstream_gene_variant,,ENST00000506348,;CDHR2,downstream_gene_variant,,ENST00000510636,;	2951	17	15	SUCCESS
NSD1	64324	.	GRCh37	5	176562395	176562395	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	133	0	ENST00000439151.2:c.291T>G	p.Phe97Leu	p.F97L	ENST00000439151	NM_022455.4	97	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS4412.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTTCAAGA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	.	.	ENSP00000395929	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.51)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Phe97Leu,ENST00000361032,;NSD1,missense_variant,p.Phe97Leu,ENST00000439151,;NSD1,intron_variant,,ENST00000354179,;NSD1,intron_variant,,ENST00000508896,;NSD1,intron_variant,,ENST00000347982,;NSD1,intron_variant,,ENST00000511258,;NSD1,intron_variant,,ENST00000510954,;NSD1,non_coding_transcript_exon_variant,,ENST00000602285,;NSD1,non_coding_transcript_exon_variant,,ENST00000512992,;	336	133	49	SUCCESS
IQGAP2	10788	.	GRCh37	5	75888748	75888748	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1264875033	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	42	295	0	ENST00000274364.6:c.905A>G	p.Asn302Ser	p.N302S	ENST00000274364	NM_006633.2	302	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS34188.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAACAGTA	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12	.	.	ENSP00000274364	.	9/36	.	.	.	.	.	.	.	.	.	9/36	PASS	ENST00000274364	Transcript	.	.	ENSG00000145703	6111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0.02)	.	IQGA2_HUMAN	IQGAP2	HGNC	E7EWC2_HUMAN,D6R939_HUMAN	.	UPI000020CB2C	SNV	IQGAP2,missense_variant,p.Asn275Ser,ENST00000514350,;IQGAP2,missense_variant,p.Asn252Ser,ENST00000505766,;IQGAP2,missense_variant,p.Asn302Ser,ENST00000274364,;IQGAP2,splice_region_variant,,ENST00000379730,;IQGAP2,upstream_gene_variant,,ENST00000504815,;	1202	295	143	SUCCESS
PRDM1	639	.	GRCh37	6	106554333	106554333	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	200	0	ENST00000369096.4:c.1861C>T	p.His621Tyr	p.H621Y	ENST00000369096	NM_001198.3	621	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS5054.2	1861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACACTAC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,PIRSF_domain:PIRSF013212,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000358092	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000369096	Transcript	.	.	ENSG00000057657	9346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	PRDM1_HUMAN	PRDM1	HGNC	Q5T4E8_HUMAN,B2REA5_HUMAN	.	UPI0000D49069	SNV	PRDM1,missense_variant,p.His621Tyr,ENST00000369096,;PRDM1,missense_variant,p.His585Tyr,ENST00000369091,;PRDM1,missense_variant,p.His487Tyr,ENST00000369089,;PRDM1,downstream_gene_variant,,ENST00000450060,;	2095	200	76	SUCCESS
ACAT2	39	.	GRCh37	6	160189612	160189612	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	183	0	ENST00000367048.4:c.442T>A	p.Cys148Ser	p.C148S	ENST00000367048	NM_005891.2	148	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS5268.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCTGTGAT	NONE	.	.	hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000356015	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.54)	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,missense_variant,p.Cys177Ser,ENST00000541436,;ACAT2,missense_variant,p.Cys148Ser,ENST00000367048,;ACAT2,non_coding_transcript_exon_variant,,ENST00000467951,;	2202	183	59	SUCCESS
HIST1H3D	0	.	GRCh37	6	26197153	26197153	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	342	0	ENST00000377831.5:c.326A>G	p.Asn109Ser	p.N109S	ENST00000377831	NM_003530.4	109	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS4590.1	326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGTTGGTG	NONE	.	.	hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000367062	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377831	Transcript	.	.	ENSG00000197409	4767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0.04)	.	H31_HUMAN	HIST1H3D	HGNC	.	.	UPI00000003C7	SNV	HIST1H3D,missense_variant,p.Asn109Ser,ENST00000377831,;HIST1H3D,missense_variant,p.Asn109Ser,ENST00000356476,;HIST1H2BF,upstream_gene_variant,,ENST00000359985,;HIST1H2AD,downstream_gene_variant,,ENST00000341023,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;	780	343	122	SUCCESS
DDAH2	23564	.	GRCh37	6	31695402	31695402	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs774241250	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	235	0	ENST00000375787.2:c.659G>C	p.Cys220Ser	p.C220S	ENST00000375787	NM_013974.1	220	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS4718.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACAGTCA	NONE	.	.	hmmpanther:PTHR12737,hmmpanther:PTHR12737:SF16,Pfam_domain:PF02274,Gene3D:3.75.10.10,Superfamily_domains:SSF55909	.	.	ENSP00000364945	.	5/6	.	.	.	.	.	.	.	.	rs774241250	5/6	PASS	ENST00000375789	Transcript	.	.	ENSG00000213722	2716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	DDAH2_HUMAN	DDAH2	HGNC	Q5SSV3_HUMAN,Q5SRR8_HUMAN	.	UPI0000033BA3	SNV	DDAH2,missense_variant,p.Cys220Ser,ENST00000375787,;DDAH2,missense_variant,p.Cys220Ser,ENST00000375792,;DDAH2,missense_variant,p.Cys220Ser,ENST00000375789,;DDAH2,missense_variant,p.Val110Leu,ENST00000437288,;DDAH2,missense_variant,p.Cys220Ser,ENST00000416410,;DDAH2,missense_variant,p.Cys220Ser,ENST00000436437,;CLIC1,downstream_gene_variant,,ENST00000395892,;C6orf25,downstream_gene_variant,,ENST00000375809,;C6orf25,downstream_gene_variant,,ENST00000375804,;CLIC1,downstream_gene_variant,,ENST00000375784,;C6orf25,downstream_gene_variant,,ENST00000375806,;C6orf25,downstream_gene_variant,,ENST00000375814,;C6orf25,downstream_gene_variant,,ENST00000480039,;C6orf25,downstream_gene_variant,,ENST00000375805,;CLIC1,downstream_gene_variant,,ENST00000375779,;CLIC1,downstream_gene_variant,,ENST00000375780,;C6orf25,downstream_gene_variant,,ENST00000375810,;DDAH2,non_coding_transcript_exon_variant,,ENST00000483792,;DDAH2,non_coding_transcript_exon_variant,,ENST00000480913,;DDAH2,non_coding_transcript_exon_variant,,ENST00000469963,;C6orf25,downstream_gene_variant,,ENST00000471545,;DDAH2,downstream_gene_variant,,ENST00000488119,;C6orf25,downstream_gene_variant,,ENST00000485548,;C6orf25,downstream_gene_variant,,ENST00000460663,;C6orf25,downstream_gene_variant,,ENST00000466312,;	1290	235	78	SUCCESS
ZNF451	26036	.	GRCh37	6	57011983	57011983	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	151	0	ENST00000370706.4:c.1100G>T	p.Cys367Phe	p.C367F	ENST00000370706	NM_001031623.2	367	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS43477.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGCAATC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436,PROSITE_patterns:PS00028,SMART_domains:SM00355	.	.	ENSP00000359740	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Cys367Phe,ENST00000357489,;ZNF451,missense_variant,p.Cys367Phe,ENST00000370706,;ZNF451,missense_variant,p.Cys367Phe,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;RP11-203B9.4,downstream_gene_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	1344	151	74	SUCCESS
PGM3	5238	.	GRCh37	6	83881724	83881724	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	120	0	ENST00000513973.1:c.1297A>C	p.Lys433Gln	p.K433Q	ENST00000513973	NM_001199918.1	433	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS56436.1	1381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTTCAGAG	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF15,PIRSF_domain:PIRSF016408	.	.	ENSP00000425809	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	deleterious(0.04)	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,missense_variant,p.Lys64Gln,ENST00000509219,;PGM3,missense_variant,p.Lys433Gln,ENST00000512866,;PGM3,missense_variant,p.Lys433Gln,ENST00000513973,;PGM3,missense_variant,p.Lys352Gln,ENST00000283977,;PGM3,missense_variant,p.Lys461Gln,ENST00000506587,;DOPEY1,downstream_gene_variant,,ENST00000237163,;DOPEY1,downstream_gene_variant,,ENST00000369739,;DOPEY1,downstream_gene_variant,,ENST00000349129,;DOPEY1,downstream_gene_variant,,ENST00000484282,;PGM3,missense_variant,p.Lys4Gln,ENST00000504780,;PGM3,downstream_gene_variant,,ENST00000507404,;	1528	120	32	SUCCESS
GCC1	79571	.	GRCh37	7	127222282	127222282	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	57	565	1	ENST00000321407.2:c.2114A>G	p.His705Arg	p.H705R	ENST00000321407	NM_024523.5	705	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS5796.1	2114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTGGCTC	NONE	.	.	hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25	.	.	ENSP00000318821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321407	Transcript	.	.	ENSG00000179562	19095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.89)	.	GCC1_HUMAN	GCC1	HGNC	A4D0Z4_HUMAN	.	UPI0000072BA8	SNV	GCC1,missense_variant,p.His705Arg,ENST00000321407,;GCC1,downstream_gene_variant,,ENST00000497650,;	2539	566	203	SUCCESS
PLXNA4	91584	.	GRCh37	7	131910919	131910919	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	184	0	ENST00000321063.4:c.1982+1G>A		p.X661_splice	ENST00000321063	NM_020911.1	661		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43646.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACGAATT	NONE	.	.	.	.	.	ENSP00000352882	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	HIGH	8/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,splice_donor_variant,,ENST00000321063,;PLXNA4,splice_donor_variant,,ENST00000359827,;	.	184	73	SUCCESS
MGAM	8972	.	GRCh37	7	141763307	141763307	+	synonymous_variant	Silent	SNP	T	T	C	rs369807337	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	140	0	ENST00000549489.2:c.4266T>C	p.Asn1422=	p.N1422=	ENST00000549489	NM_004668.2	1422	aaT/aaC	0	C:0	.	.	.	.	C	N	protein_coding	YES	CCDS47727.1	4266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATGAACC	NONE	byCluster	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055,PROSITE_patterns:PS00129	.	C:0.0001	ENSP00000447378	.	36/48	.	.	.	.	.	.	.	.	rs369807337	36/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,synonymous_variant,p.%3D,ENST00000475668,;MGAM,synonymous_variant,p.%3D,ENST00000549489,;	4361	140	61	SUCCESS
GARS	0	.	GRCh37	7	30673470	30673470	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs537365362	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	78	0	ENST00000389266.3:c.2214G>T	p.Glu738Asp	p.E738D	ENST00000389266	NM_002047.2	738	gaG/gaT	0	.	A:0	.	A:0	.	T	E/D	protein_coding	YES	CCDS43564.1	2214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGAGGAATG	NONE	by1000G	.	hmmpanther:PTHR10745,hmmpanther:PTHR10745:SF0	A:0	.	ENSP00000373918	A:0	17/17	.	.	.	.	.	.	.	.	rs537365362	17/17	PASS	ENST00000389266	Transcript	.	A:0.0002	ENSG00000106105	4162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	A:0.001	tolerated_low_confidence(0.09)	.	SYG_HUMAN	GARS	HGNC	Q75MN1_HUMAN	.	UPI00005A885C	SNV	GARS,missense_variant,p.Glu738Asp,ENST00000389266,;GARS,non_coding_transcript_exon_variant,,ENST00000496643,;GARS,non_coding_transcript_exon_variant,,ENST00000485784,;GARS,downstream_gene_variant,,ENST00000465748,;GARS,downstream_gene_variant,,ENST00000444666,;	2455	78	32	SUCCESS
CCDC129	0	.	GRCh37	7	31682701	31682701	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748239692	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	171	0	ENST00000451887.2:c.1795G>A	p.Val599Ile	p.V599I	ENST00000451887	NM_001257968.1	599	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS59050.1	1795	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCACGTCACA	NONE	.	.	hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	11/15	.	.	.	.	.	.	.	.	rs748239692	11/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(1)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Val599Ile,ENST00000451887,;CCDC129,missense_variant,p.Val481Ile,ENST00000409210,;CCDC129,missense_variant,p.Val425Ile,ENST00000319386,;CCDC129,missense_variant,p.Val573Ile,ENST00000407970,;	1807	171	73	SUCCESS
ELMO1	9844	.	GRCh37	7	36895340	36895340	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	278	0	ENST00000310758.4:c.2000A>G	p.Asp667Gly	p.D667G	ENST00000310758	NM_014800.10	667	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5449.1	2000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATCCGTC	NONE	.	.	hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000312185	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000310758	Transcript	.	.	ENSG00000155849	16286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ELMO1_HUMAN	ELMO1	HGNC	C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN	.	UPI000006F687	SNV	ELMO1,missense_variant,p.Asp187Gly,ENST00000396045,;ELMO1,missense_variant,p.Asp667Gly,ENST00000442504,;ELMO1,missense_variant,p.Asp667Gly,ENST00000310758,;ELMO1,missense_variant,p.Asp187Gly,ENST00000396040,;ELMO1,missense_variant,p.Asp667Gly,ENST00000448602,;ELMO1,missense_variant,p.Asp369Gly,ENST00000341056,;ELMO1,non_coding_transcript_exon_variant,,ENST00000487843,;ELMO1,non_coding_transcript_exon_variant,,ENST00000497024,;	2648	278	122	SUCCESS
URGCP	55665	.	GRCh37	7	43917614	43917614	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	255	1	ENST00000453200.1:c.1448T>G	p.Ile483Ser	p.I483S	ENST00000453200		483	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS47578.1	1448	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTGATTTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22796	.	.	ENSP00000396918	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000453200	Transcript	.	.	ENSG00000106608	30890	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.093)	.	deleterious(0)	.	URGCP_HUMAN	URGCP	HGNC	C9JKA8_HUMAN,C9J0W2_HUMAN	.	UPI000020EE9D	SNV	URGCP,missense_variant,p.Ile440Ser,ENST00000447717,;URGCP,missense_variant,p.Ile483Ser,ENST00000453200,;URGCP,missense_variant,p.Ile440Ser,ENST00000336086,;URGCP,missense_variant,p.Ile440Ser,ENST00000443736,;URGCP,missense_variant,p.Ile440Ser,ENST00000223341,;URGCP,missense_variant,p.Ile474Ser,ENST00000402306,;URGCP-MRPS24,intron_variant,,ENST00000603700,;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000426198,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000474376,;	1942	256	98	SUCCESS
SUMF2	25870	.	GRCh37	7	56140741	56140741	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	164	0	ENST00000342190.6:c.333G>C	p.Trp111Cys	p.W111C	ENST00000342190	NM_001130069.2	111	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS47589.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGAGCTT	NONE	.	.	hmmpanther:PTHR23150,Gene3D:1z70X00,Pfam_domain:PF03781,Superfamily_domains:SSF56436	.	.	ENSP00000341938	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342190	Transcript	.	.	ENSG00000129103	20415	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.02)	.	.	SUMF2	HGNC	Q75LP3_HUMAN,F8WA42_HUMAN	.	UPI0001AE7021	SNV	SUMF2,missense_variant,p.Trp4Cys,ENST00000275607,;SUMF2,missense_variant,p.Trp111Cys,ENST00000395435,;SUMF2,missense_variant,p.Trp92Cys,ENST00000437307,;SUMF2,missense_variant,p.Trp114Cys,ENST00000413952,;SUMF2,missense_variant,p.Trp89Cys,ENST00000451338,;SUMF2,missense_variant,p.Trp111Cys,ENST00000342190,;SUMF2,missense_variant,p.Trp111Cys,ENST00000395436,;SUMF2,missense_variant,p.Trp92Cys,ENST00000413756,;SUMF2,missense_variant,p.Trp111Cys,ENST00000434526,;SUMF2,missense_variant,p.Gly40Ala,ENST00000452216,;SUMF2,missense_variant,p.Trp92Cys,ENST00000447501,;SUMF2,missense_variant,p.Trp92Cys,ENST00000423763,;SUMF2,missense_variant,p.Trp92Cys,ENST00000438133,;SUMF2,non_coding_transcript_exon_variant,,ENST00000483327,;SUMF2,non_coding_transcript_exon_variant,,ENST00000529457,;SUMF2,non_coding_transcript_exon_variant,,ENST00000498777,;SUMF2,intron_variant,,ENST00000436782,;SUMF2,upstream_gene_variant,,ENST00000531229,;SUMF2,upstream_gene_variant,,ENST00000461912,;	333	164	74	SUCCESS
USP42	84132	.	GRCh37	7	6183809	6183809	+	synonymous_variant	Silent	SNP	C	C	T	rs151011297	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	72	0	ENST00000306177.5:c.972C>T	p.Thr324=	p.T324=	ENST00000306177	NM_032172.2	324	acC/acT	0	.	T:0.0008	.	T:0	.	T	T	protein_coding	YES	CCDS47535.1	972	RADIA|MUSE	.	TTTACCGGTGG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	T:0	.	ENSP00000301962	T:0	9/18	.	.	.	.	.	.	.	.	rs151011297,COSM747338,COSM1150726	9/18	PASS	ENST00000306177	Transcript	.	T:0.0002	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	T:0	.	0,1,1	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,synonymous_variant,p.%3D,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,3_prime_UTR_variant,,ENST00000404008,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	1130	72	21	SUCCESS
AKAP9	10142	.	GRCh37	7	91694746	91694746	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757213927	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	90	0	ENST00000356239.3:c.6179A>G	p.Lys2060Arg	p.K2060R	ENST00000356239	NM_147185.2	2060	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5622.1	6179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAAGCAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF10,hmmpanther:PTHR18932	.	.	ENSP00000348573	.	25/50	.	.	.	.	.	.	.	.	rs757213927,COSM93875,COSM93876	25/50	PASS	ENST00000356239	Transcript	.	.	ENSG00000127914	379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	.	.	0,1,1	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,missense_variant,p.Lys2060Arg,ENST00000356239,;AKAP9,missense_variant,p.Lys2072Arg,ENST00000359028,;AKAP9,missense_variant,p.Lys2072Arg,ENST00000358100,;AKAP9,upstream_gene_variant,,ENST00000394534,;AKAP9,non_coding_transcript_exon_variant,,ENST00000491695,;	6412	91	44	SUCCESS
ATAD2	29028	.	GRCh37	8	124408568	124408568	+	synonymous_variant	Silent	SNP	C	C	T	rs760726039	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	55	0	ENST00000287394.5:c.30G>A	p.Leu10=	p.L10=	ENST00000287394	NM_014109.3	10	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6343.1	30	MUTECT|MUSE	.	TTGTGCAGCTC	NONE	byFrequency	.	.	.	.	ENSP00000287394	.	1/28	.	.	.	.	.	.	.	.	rs760726039	1/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,synonymous_variant,p.%3D,ENST00000287394,;ATAD2,intron_variant,,ENST00000521903,;ATAD2,synonymous_variant,p.%3D,ENST00000517666,;ATAD2,synonymous_variant,p.%3D,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;IMPDH1P6,upstream_gene_variant,,ENST00000520656,;	138	55	69	SUCCESS
NDRG1	10397	.	GRCh37	8	134270653	134270653	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	57	237	0	ENST00000323851.7:c.406G>A	p.Gly136Ser	p.G136S	ENST00000323851	NM_006096.3	136	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS34945.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCCAATAA	NONE	.	.	hmmpanther:PTHR11034:SF18,hmmpanther:PTHR11034,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474	.	.	ENSP00000404854	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000414097	Transcript	1	.	ENSG00000104419	7679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NDRG1_HUMAN	NDRG1	HGNC	E5RIR1_HUMAN,E5RI76_HUMAN,E5RGM5_HUMAN,E5RGG6_HUMAN,E5RG99_HUMAN,B7Z505_HUMAN,B3KWB2_HUMAN	.	UPI000012FEDD	SNV	NDRG1,missense_variant,p.Gly136Ser,ENST00000414097,;NDRG1,missense_variant,p.Gly153Ser,ENST00000520230,;NDRG1,missense_variant,p.Gly136Ser,ENST00000323851,;NDRG1,missense_variant,p.Gly147Ser,ENST00000520943,;NDRG1,missense_variant,p.Gly136Ser,ENST00000519228,;NDRG1,missense_variant,p.Gly55Ser,ENST00000537882,;NDRG1,missense_variant,p.Gly70Ser,ENST00000522476,;NDRG1,missense_variant,p.Gly136Ser,ENST00000522890,;NDRG1,missense_variant,p.Gly136Ser,ENST00000519580,;NDRG1,missense_variant,p.Gly70Ser,ENST00000518480,;NDRG1,intron_variant,,ENST00000518066,;NDRG1,intron_variant,,ENST00000354944,;NDRG1,intron_variant,,ENST00000518176,;NDRG1,downstream_gene_variant,,ENST00000521544,;NDRG1,downstream_gene_variant,,ENST00000522738,;NDRG1,downstream_gene_variant,,ENST00000523892,;NDRG1,non_coding_transcript_exon_variant,,ENST00000517331,;NDRG1,intron_variant,,ENST00000518010,;NDRG1,missense_variant,p.Gly136Ser,ENST00000522377,;NDRG1,3_prime_UTR_variant,,ENST00000517599,;NDRG1,downstream_gene_variant,,ENST00000518094,;NDRG1,upstream_gene_variant,,ENST00000519278,;NDRG1,upstream_gene_variant,,ENST00000521664,;NDRG1,downstream_gene_variant,,ENST00000517745,;NDRG1,downstream_gene_variant,,ENST00000523931,;	1274	237	188	SUCCESS
PTK2	5747	.	GRCh37	8	141874456	141874456	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	147	0	ENST00000521059.1:c.405C>G	p.Asn135Lys	p.N135K	ENST00000521059	NM_005607.4	135	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS56557.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGGTTTAG	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000341189	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.19)	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,missense_variant,p.Asn146Lys,ENST00000519654,;PTK2,missense_variant,p.Asn135Lys,ENST00000521059,;PTK2,missense_variant,p.Asn135Lys,ENST00000340930,;PTK2,missense_variant,p.Asn34Lys,ENST00000520828,;PTK2,missense_variant,p.Asn179Lys,ENST00000519419,;PTK2,missense_variant,p.Asn135Lys,ENST00000395218,;PTK2,missense_variant,p.Asn135Lys,ENST00000535192,;PTK2,missense_variant,p.Asn179Lys,ENST00000517887,;PTK2,missense_variant,p.Asn135Lys,ENST00000520475,;PTK2,missense_variant,p.Asn135Lys,ENST00000522684,;PTK2,intron_variant,,ENST00000524357,;PTK2,3_prime_UTR_variant,,ENST00000523067,;PTK2,3_prime_UTR_variant,,ENST00000521791,;PTK2,3_prime_UTR_variant,,ENST00000519993,;	560	147	77	SUCCESS
DAB2IP	153090	.	GRCh37	9	124535286	124535286	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	32	0	ENST00000408936.3:c.2479T>G	p.Ser827Ala	p.S827A	ENST00000408936		827	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS6833.2	2395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCTCCTTC	NONE	.	.	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Pfam_domain:PF12004	.	.	ENSP00000259371	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000259371	Transcript	.	.	ENSG00000136848	17294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	deleterious(0)	.	DAB2P_HUMAN	DAB2IP	HGNC	H0Y3A3_HUMAN,F8WA47_HUMAN,F6R503_HUMAN,B3KW96_HUMAN	.	UPI0000D77E70	SNV	DAB2IP,missense_variant,p.Ser827Ala,ENST00000408936,;DAB2IP,missense_variant,p.Ser799Ala,ENST00000259371,;DAB2IP,missense_variant,p.Ser736Ala,ENST00000373782,;DAB2IP,missense_variant,p.Ser703Ala,ENST00000309989,;DAB2IP,downstream_gene_variant,,ENST00000459906,;	2464	32	27	SUCCESS
ODF2	4957	.	GRCh37	9	131246268	131246268	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	104	0	ENST00000434106.3:c.1039G>A	p.Gly347Arg	p.G347R	ENST00000434106	NM_153433.1	347	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS56588.1	1039	RADIA|MUSE	.	TGCGTGGGCAT	NONE	.	.	hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162	.	.	ENSP00000403453	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000434106	Transcript	.	.	ENSG00000136811	8114	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.642)	.	deleterious(0)	.	ODFP2_HUMAN	ODF2	HGNC	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN	.	UPI0000211922	SNV	ODF2,missense_variant,p.Gly290Arg,ENST00000421776,;ODF2,missense_variant,p.Gly391Arg,ENST00000372814,;ODF2,missense_variant,p.Gly266Arg,ENST00000448249,;ODF2,missense_variant,p.Gly342Arg,ENST00000351030,;ODF2,missense_variant,p.Gly323Arg,ENST00000393527,;ODF2,missense_variant,p.Gly347Arg,ENST00000604420,;ODF2,missense_variant,p.Gly323Arg,ENST00000444119,;ODF2,missense_variant,p.Gly347Arg,ENST00000434106,;ODF2,missense_variant,p.Gly328Arg,ENST00000372791,;ODF2,missense_variant,p.Gly328Arg,ENST00000546203,;ODF2,missense_variant,p.Gly342Arg,ENST00000372807,;ODF2,missense_variant,p.Gly347Arg,ENST00000393533,;ODF2,3_prime_UTR_variant,,ENST00000535026,;	1402	104	26	SUCCESS
EHMT1	79813	.	GRCh37	9	140678739	140678739	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	43	0	ENST00000460843.1:c.2382+1890C>G		p.*794*	ENST00000460843	NM_024757.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7050.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCTTTCAGAGA	NONE	.	.	.	.	.	ENSP00000417980	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000460843	Transcript	.	.	ENSG00000181090	24650	.	.	MODIFIER	15/26	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EHMT1_HUMAN	EHMT1	HGNC	Q71M33_HUMAN,A0PJE0_HUMAN	.	UPI000194EC2D	SNV	EHMT1,3_prime_UTR_variant,,ENST00000462484,;EHMT1,intron_variant,,ENST00000334856,;EHMT1,intron_variant,,ENST00000460843,;EHMT1,intron_variant,,ENST00000371394,;EHMT1,upstream_gene_variant,,ENST00000493484,;EHMT1,intron_variant,,ENST00000462942,;RP11-188C12.2,downstream_gene_variant,,ENST00000421194,;	.	43	15	SUCCESS
SLC24A2	25769	.	GRCh37	9	19516230	19516230	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	30	240	0	ENST00000341998.2:c.1907T>A	p.Met636Lys	p.M636K	ENST00000341998	NM_001193288.2	636	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS6493.1	1907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACATGATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367	.	.	ENSP00000344801	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,missense_variant,p.Met636Lys,ENST00000341998,;SLC24A2,missense_variant,p.Met619Lys,ENST00000286344,;	1969	240	117	SUCCESS
PTPRD	5789	.	GRCh37	9	8504350	8504350	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	311	0	ENST00000356435.5:c.1733A>G	p.Asn578Ser	p.N578S	ENST00000356435		578	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS43786.1	1733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTTTGGT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,SMART_domains:SM00409,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50853	.	.	ENSP00000370593	.	20/43	.	.	.	.	.	.	.	.	.	20/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,missense_variant,p.Asn568Ser,ENST00000397617,;PTPRD,missense_variant,p.Asn578Ser,ENST00000486161,;PTPRD,missense_variant,p.Asn565Ser,ENST00000358503,;PTPRD,missense_variant,p.Asn565Ser,ENST00000360074,;PTPRD,missense_variant,p.Asn578Ser,ENST00000381196,;PTPRD,missense_variant,p.Asn568Ser,ENST00000397606,;PTPRD,missense_variant,p.Asn578Ser,ENST00000356435,;PTPRD,missense_variant,p.Asn578Ser,ENST00000355233,;PTPRD,missense_variant,p.Asn575Ser,ENST00000397611,;PTPRD,missense_variant,p.Asn578Ser,ENST00000540109,;PTPRD,missense_variant,p.Asn575Ser,ENST00000537002,;PTPRD,upstream_gene_variant,,ENST00000471274,;	2277	311	118	SUCCESS
HTR2C	3358	.	GRCh37	X	113961302	113961302	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs190552730	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	107	0	ENST00000276198.1:c.-44G>A		p.*15*	ENST00000276198	NM_000868.2			0	A:0	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS14564.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCGTCTTC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000276198	A:0.001	3/6	.	.	.	.	.	.	.	.	rs190552730	3/6	PASS	ENST00000276198	Transcript	.	A:0.0005	ENSG00000147246	5295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,5_prime_UTR_variant,,ENST00000371950,;HTR2C,5_prime_UTR_variant,,ENST00000276198,;HTR2C,5_prime_UTR_variant,,ENST00000371951,;	685	107	41	SUCCESS
PHF6	84295	.	GRCh37	X	133527959	133527959	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs756384013	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	107	0	ENST00000332070.3:c.395A>G	p.Lys132Arg	p.K132R	ENST00000332070	NM_032458.2	132	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14639.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACAAGAAAA	NONE	.	.	SMART_domains:SM00249,Gene3D:3.30.40.10,Pfam_domain:PF13771,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF5	.	.	ENSP00000329097	.	5/10	.	.	.	.	.	.	.	.	rs756384013	5/10	PASS	ENST00000332070	Transcript	.	.	ENSG00000156531	18145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.73)	.	PHF6_HUMAN	PHF6	HGNC	B4E138_HUMAN	.	UPI0000074487	SNV	PHF6,missense_variant,p.Lys132Arg,ENST00000394292,;PHF6,missense_variant,p.Lys132Arg,ENST00000370799,;PHF6,missense_variant,p.Lys132Arg,ENST00000332070,;PHF6,missense_variant,p.Lys98Arg,ENST00000416404,;PHF6,missense_variant,p.Lys132Arg,ENST00000370800,;PHF6,missense_variant,p.Lys132Arg,ENST00000370803,;	597	107	40	SUCCESS
SYAP1	94056	.	GRCh37	X	16761852	16761852	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	68	0	ENST00000380155.3:c.464C>A	p.Pro155Gln	p.P155Q	ENST00000380155	NM_032796.3	155	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS14177.1	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCGGCTG	NONE	.	.	hmmpanther:PTHR16019:SF6,hmmpanther:PTHR16019,Superfamily_domains:SSF140383	.	.	ENSP00000369500	.	5/9	.	.	.	.	.	.	.	.	COSM1228079	5/9	PASS	ENST00000380155	Transcript	.	.	ENSG00000169895	16273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SYAP1_HUMAN	SYAP1	HGNC	B4DHY7_HUMAN	.	UPI000006E658	SNV	SYAP1,missense_variant,p.Pro155Gln,ENST00000380155,;	557	69	20	SUCCESS
BEND2	139105	.	GRCh37	X	18238872	18238872	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1323717738	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	27	69	1	ENST00000380033.4:c.-2C>T		p.*1*	ENST00000380033	NM_153346.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14184.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGTGAGA	NONE	.	.	.	.	.	ENSP00000369372	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000380033	Transcript	.	.	ENSG00000177324	28509	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BEND2_HUMAN	BEND2	HGNC	.	.	UPI000013FE0F	SNV	BEND2,5_prime_UTR_variant,,ENST00000380030,;BEND2,5_prime_UTR_variant,,ENST00000380033,;	132	70	40	SUCCESS
GRIPAP1	56850	.	GRCh37	X	48834814	48834814	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	18	54	1	ENST00000376423.4:c.1727C>T	p.Ser576Leu	p.S576L	ENST00000376423	NM_207672.1	576	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS35248.1	1964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGAGTTC	NONE	.	.	hmmpanther:PTHR18978:SF1,hmmpanther:PTHR18978	.	.	ENSP00000365624	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000376441	Transcript	.	.	ENSG00000068400	18706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.502)	.	.	.	GRAP1_HUMAN	GRIPAP1	HGNC	.	.	UPI000035AC76	SNV	GRIPAP1,missense_variant,p.Ser576Leu,ENST00000376423,;GRIPAP1,missense_variant,p.Ser655Leu,ENST00000376441,;GRIPAP1,missense_variant,p.Ser624Leu,ENST00000376425,;GRIPAP1,missense_variant,p.Ser610Leu,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000488361,;GRIPAP1,downstream_gene_variant,,ENST00000474512,;	1999	55	19	SUCCESS
ZNF711	7552	.	GRCh37	X	84526390	84526390	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	45	183	1	ENST00000276123.3:c.1842T>C	p.Thr614=	p.T614=	ENST00000276123		614	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS35344.1	1842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACTAAGGA	BUFFER|p.P628S|c.1882C>T|4,BUFFER|p.P618S|c.1852C>T|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF1,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000362260	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000373165	Transcript	.	.	ENSG00000147180	13128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN711_HUMAN	ZNF711	HGNC	B4DS73_HUMAN	.	UPI0000212114	SNV	ZNF711,synonymous_variant,p.%3D,ENST00000276123,;ZNF711,synonymous_variant,p.%3D,ENST00000542798,;ZNF711,synonymous_variant,p.%3D,ENST00000373165,;ZNF711,synonymous_variant,p.%3D,ENST00000360700,;ZNF711,synonymous_variant,p.%3D,ENST00000395402,;	2148	184	79	SUCCESS
CYP2E1	1571	.	GRCh37	10	135340926	135340949	+	inframe_deletion	In_Frame_Del	DEL	CCTGCTGGTGTGGGCGGCCTTCCT	CCTGCTGGTGTGGGCGGCCTTCCT	-	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	CCTGCTGGTGTGGGCGGCCTTCCT	CCTGCTGGTGTGGGCGGCCTTCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	57	0	ENST00000252945.3:c.38_61del	p.Trp13_Val20del	p.W13_V20del	ENST00000252945	NM_000773.3	9	gcCCTGCTGGTGTGGGCGGCCTTCCTc/gcc	0	.	.	.	.	.	-	ALLVWAAFL/A	protein_coding	YES	CCDS7686.1	27-50	INDELOCATOR|VARSCANI	.	CGTGGCCCTGCTGGTGTGGGCGGCCTTCCTCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Prints_domain:PR01687,Prints_domain:PR01687	.	.	ENSP00000440689	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000463117	Transcript	.	.	ENSG00000130649	2631	11	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP2E1_HUMAN	CYP2E1	HGNC	Q4LBD0_HUMAN,F5H694_HUMAN	.	UPI0000128291	deletion	CYP2E1,inframe_deletion,p.Trp13_Val20del,ENST00000541261,;CYP2E1,inframe_deletion,p.Trp13_Val20del,ENST00000463117,;CYP2E1,inframe_deletion,p.Trp13_Val20del,ENST00000252945,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,upstream_gene_variant,,ENST00000418356,;AL161645.2,downstream_gene_variant,,ENST00000599428,;CYP2E1,upstream_gene_variant,,ENST00000421586,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000477500,;CYP2E1,upstream_gene_variant,,ENST00000480558,;RP11-108K14.4,downstream_gene_variant,,ENST00000488261,;CYP2E1,upstream_gene_variant,,ENST00000541080,;CYP2E1,upstream_gene_variant,,ENST00000368520,;RP11-108K14.4,downstream_gene_variant,,ENST00000356567,;	299-322	57	31	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72503886	72503886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	8	105	0	ENST00000373207.1:c.2123G>T	p.Gly708Val	p.G708V	ENST00000373207	NM_080722.3	708	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7307.1	2132	MUTECT|MUSE	.	CGGGGGTGACA	NONE	.	.	hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723,Prints_domain:PR01857	.	.	ENSP00000362304	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,missense_variant,p.Gly711Val,ENST00000373208,;ADAMTS14,missense_variant,p.Gly708Val,ENST00000373207,;	2132	105	133	SUCCESS
LRIT1	26103	.	GRCh37	10	85991740	85991740	+	synonymous_variant	Silent	SNP	C	C	T	rs774180773	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	72	1	ENST00000372105.3:c.1815G>A	p.Val605=	p.V605=	ENST00000372105	NM_015613.2	605	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS7373.1	1815	MUTECT|MUSE	.	AAGTCCACACT	NONE	byFrequency	.	hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367	.	.	ENSP00000361177	.	4/4	.	.	.	.	.	.	.	.	rs774180773	4/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,synonymous_variant,p.%3D,ENST00000372105,;	1837	73	78	SUCCESS
BIRC2	329	.	GRCh37	11	102221361	102221362	+	inframe_insertion	In_Frame_Ins	INS	-	-	TAG	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	27	0	ENST00000227758.2:c.777_779dup	p.Ser260dup	p.S260dup	ENST00000227758	NM_001166.4	260	ttt/ttTAGt	0	.	.	.	.	.	TAG	F/FS	protein_coding	YES	CCDS8316.1	776-777	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGTTTAGCA	NONE	.	.	hmmpanther:PTHR10044:SF79,hmmpanther:PTHR10044	.	.	ENSP00000227758	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000227758	Transcript	.	.	ENSG00000110330	590	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BIRC2_HUMAN	BIRC2	HGNC	E9PNM6_HUMAN,E9PMH5_HUMAN,E9PIW1_HUMAN,E9PI77_HUMAN	.	UPI00000015E7	insertion	BIRC2,inframe_insertion,p.Ser260dup,ENST00000227758,;BIRC2,inframe_insertion,p.Ser239dup,ENST00000532672,;BIRC2,inframe_insertion,p.Ser211dup,ENST00000530675,;BIRC2,intron_variant,,ENST00000531259,;BIRC2,intron_variant,,ENST00000533742,;BIRC2,downstream_gene_variant,,ENST00000527465,;BIRC2,downstream_gene_variant,,ENST00000532832,;BIRC2,non_coding_transcript_exon_variant,,ENST00000527910,;BIRC2,downstream_gene_variant,,ENST00000527808,;BIRC2,downstream_gene_variant,,ENST00000534646,;BIRC2,inframe_insertion,p.Ser220dup,ENST00000528344,;	2175-2176	27	47	SUCCESS
EXPH5	23086	.	GRCh37	11	108383488	108383488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	71	0	ENST00000265843.4:c.2746C>A	p.Pro916Thr	p.P916T	ENST00000265843	NM_015065.2	916	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8341.1	2746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATGGATCTT	NONE	.	.	hmmpanther:PTHR21469	.	.	ENSP00000265843	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000265843	Transcript	.	.	ENSG00000110723	30578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated(0.05)	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,missense_variant,p.Pro840Thr,ENST00000428840,;EXPH5,missense_variant,p.Pro728Thr,ENST00000443411,;EXPH5,missense_variant,p.Pro728Thr,ENST00000533052,;EXPH5,missense_variant,p.Pro909Thr,ENST00000525344,;EXPH5,missense_variant,p.Pro840Thr,ENST00000526312,;EXPH5,missense_variant,p.Pro916Thr,ENST00000265843,;EXPH5,downstream_gene_variant,,ENST00000524840,;	2857	71	84	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128839106	128839106	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752941537	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	21	181	0	ENST00000310343.9:c.5960A>G	p.His1987Arg	p.H1987R	ENST00000310343	NM_001142685.1	1987	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS44769.1	5960	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATGACTC	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9	.	.	ENSP00000310561	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	deleterious_low_confidence(0.02)	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,missense_variant,p.His1638Arg,ENST00000527272,;ARHGAP32,missense_variant,p.His1638Arg,ENST00000392657,;ARHGAP32,missense_variant,p.His1987Arg,ENST00000310343,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	5960	181	237	SUCCESS
DCDC1	341019	.	GRCh37	11	30921967	30921972	+	inframe_deletion,NMD_transcript_variant	In_Frame_Del	DEL	GACTTG	GACTTG	-	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	GACTTG	GACTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	137	0	ENST00000303697.4:c.646_651del	p.Lys217_Ser218del	p.K217_S218del	ENST00000303697		216	gaCAAGTCt/gat	0	.	.	.	.	.	-	DKS/D	protein_coding	.	.	4575-4580	INDELOCATOR*|PINDEL	.	AGCAAAGACTTGTCTAT	NONE	.	.	hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958	.	.	ENSP00000472625	.	31/36	.	.	.	.	.	.	.	.	.	31/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	deletion	DCDC1,inframe_deletion,p.Lys1526_Ser1527del,ENST00000597505,;DCDC1,inframe_deletion,p.Lys605_Ser606del,ENST00000339794,;DCDC1,inframe_deletion,p.Lys264_Ser265del,ENST00000406071,;DCDC1,inframe_deletion,p.Lys217_Ser218del,ENST00000303697,;DCDC1,inframe_deletion,p.Lys561_Ser562del,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	4575-4580	137	113	SUCCESS
DCDC1	341019	.	GRCh37	11	31312242	31312242	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	9	109	0	ENST00000452803.1:c.912G>A	p.Met304Ile	p.M304I	ENST00000452803	NM_181807.3	304	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7872.1	912	MUTECT|MUSE	.	TGCCCCATGCC	NONE	.	.	Superfamily_domains:SSF89837,Gene3D:1mfwA00,hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF21	.	.	ENSP00000389792	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000452803	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.073)	.	tolerated(0.41)	.	DCDC1_HUMAN	DCDC1	HGNC	.	.	UPI00001F9F1E	SNV	DCDC1,missense_variant,p.Met304Ile,ENST00000597505,;DCDC1,missense_variant,p.Met304Ile,ENST00000452803,;DCDC1,intron_variant,,ENST00000342355,;	1114	109	138	SUCCESS
OR5T1	390155	.	GRCh37	11	56043388	56043388	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	75	0	ENST00000313033.2:c.274A>G	p.Lys92Glu	p.K92E	ENST00000313033	NM_001004745.1	92	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS31525.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAAAAATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248:SF33,hmmpanther:PTHR24248,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323612	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313033	Transcript	.	.	ENSG00000181698	14821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0.01)	.	OR5T1_HUMAN	OR5T1	HGNC	.	.	UPI000004B22E	SNV	OR5T1,missense_variant,p.Lys92Glu,ENST00000313033,;	360	75	102	SUCCESS
FAT3	120114	.	GRCh37	11	92538485	92538485	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	63	175	0	ENST00000298047.6:c.9063T>C	p.Asp3021=	p.D3021=	ENST00000298047		3021	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	.	9063	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGTGAA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268,Low_complexity_(Seg):seg	.	.	ENSP00000298047	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;	9080	175	203	SUCCESS
IRAK3	11213	.	GRCh37	12	66611016	66611016	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	93	0	ENST00000261233.4:c.653+1G>T		p.X218_splice	ENST00000261233	NM_007199.2	218		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8975.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTGTGAGT	NONE	.	.	.	.	.	ENSP00000261233	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261233	Transcript	.	.	ENSG00000090376	17020	.	.	HIGH	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRAK3_HUMAN	IRAK3	HGNC	.	.	UPI000013D14A	SNV	IRAK3,splice_donor_variant,,ENST00000261233,;IRAK3,splice_donor_variant,,ENST00000457197,;	.	93	79	SUCCESS
IKBIP	121457	.	GRCh37	12	99028193	99028193	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	40	0	ENST00000342502.2:c.180-2A>T		p.X60_splice	ENST00000342502	NM_201612.2	60		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9068.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTGGAAA	NONE	.	.	.	.	.	ENSP00000299157	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000299157	Transcript	.	.	ENSG00000166130	26430	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKIP_HUMAN	IKBIP	HGNC	.	.	UPI0000070C12	SNV	IKBIP,splice_acceptor_variant,,ENST00000342502,;IKBIP,splice_acceptor_variant,,ENST00000299157,;IKBIP,intron_variant,,ENST00000393042,;IKBIP,intron_variant,,ENST00000420861,;	.	40	32	SUCCESS
CYP46A1	10858	.	GRCh37	14	100191750	100191750	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	44	101	0	ENST00000261835.3:c.1199G>A	p.Arg400Gln	p.R400Q	ENST00000261835	NM_006668.1	400	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS9954.1	1199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGGATGG	NONE	.	.	hmmpanther:PTHR24293,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000261835	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000261835	Transcript	.	.	ENSG00000036530	2641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CP46A_HUMAN	CYP46A1	HGNC	B4DHP8_HUMAN	.	UPI00001281DC	SNV	CYP46A1,missense_variant,p.Arg387Gln,ENST00000380228,;CYP46A1,missense_variant,p.Arg303Gln,ENST00000423126,;CYP46A1,missense_variant,p.Arg237Gln,ENST00000554176,;CYP46A1,missense_variant,p.Arg400Gln,ENST00000261835,;CYP46A1,downstream_gene_variant,,ENST00000556313,;CYP46A1,3_prime_UTR_variant,,ENST00000554917,;CYP46A1,downstream_gene_variant,,ENST00000556822,;	1303	101	136	SUCCESS
BRF1	2972	.	GRCh37	14	105722840	105722840	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	61	146	0	ENST00000546474.1:c.471+15T>G		p.*157*	ENST00000546474	NM_001519.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10001.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGACGGAG	NONE	.	.	.	.	.	ENSP00000448323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000546474	Transcript	.	.	ENSG00000185024	11551	.	.	MODIFIER	4/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3B_HUMAN	BRF1	HGNC	F8VXJ4_HUMAN,F8VWY1_HUMAN,F8VWT8_HUMAN,F8VQ19_HUMAN,B3KWA2_HUMAN	.	UPI0000136C55	SNV	BRF1,synonymous_variant,p.%3D,ENST00000548421,;BRF1,intron_variant,,ENST00000327359,;BRF1,intron_variant,,ENST00000379937,;BRF1,intron_variant,,ENST00000440513,;BRF1,intron_variant,,ENST00000546417,;BRF1,intron_variant,,ENST00000546474,;BRF1,intron_variant,,ENST00000550692,;	.	146	222	SUCCESS
SLC39A9	55334	.	GRCh37	14	69925257	69925257	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	40	65	0	ENST00000336643.5:c.871C>G	p.Leu291Val	p.L291V	ENST00000336643	NM_018375.4	291	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS9795.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCTGGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16133:SF2,hmmpanther:PTHR16133,Pfam_domain:PF02535	.	.	ENSP00000336887	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000336643	Transcript	.	.	ENSG00000029364	20182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	deleterious(0.05)	.	S39A9_HUMAN	SLC39A9	HGNC	C4N9M8_HUMAN,B4DDK0_HUMAN	.	UPI0000040C12	SNV	SLC39A9,missense_variant,p.Leu291Val,ENST00000336643,;SLC39A9,missense_variant,p.Leu268Val,ENST00000557046,;SLC39A9,missense_variant,p.Leu225Val,ENST00000031146,;SLC39A9,intron_variant,,ENST00000556605,;SLC39A9,non_coding_transcript_exon_variant,,ENST00000555245,;SLC39A9,missense_variant,p.Leu291Val,ENST00000555840,;SLC39A9,non_coding_transcript_exon_variant,,ENST00000554023,;SLC39A9,non_coding_transcript_exon_variant,,ENST00000538956,;	1549	65	121	SUCCESS
MAP3K9	4293	.	GRCh37	14	71215655	71215655	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1389314441	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	85	177	0	ENST00000554752.2:c.1217T>C	p.Ile406Thr	p.I406T	ENST00000554752	NM_001284230.1	406	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS32112.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATGGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF401,SMART_domains:SM00220,PIRSF_domain:PIRSF000556	.	.	ENSP00000451263	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000555993	Transcript	.	.	ENSG00000006432	6861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	M3K9_HUMAN	MAP3K9	HGNC	Q8NEB1_HUMAN,B4DSG3_HUMAN,B4DGF4_HUMAN,B3KRI5_HUMAN	.	UPI00001D7B5C	SNV	MAP3K9,missense_variant,p.Ile100Thr,ENST00000553414,;MAP3K9,missense_variant,p.Ile143Thr,ENST00000554146,;MAP3K9,missense_variant,p.Ile406Thr,ENST00000381250,;MAP3K9,missense_variant,p.Ile406Thr,ENST00000555993,;MAP3K9,missense_variant,p.Ile406Thr,ENST00000554752,;MAP3K9,downstream_gene_variant,,ENST00000554024,;	1580	178	259	SUCCESS
HERC2	8924	.	GRCh37	15	28421656	28421656	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	74	188	1	ENST00000261609.7:c.9604C>G	p.Leu3202Val	p.L3202V	ENST00000261609	NM_004667.5	3202	Cta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS10021.1	9604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAGTCTCT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000261609	.	63/93	.	.	.	.	.	.	.	.	.	63/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Leu3202Val,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	9713	189	255	SUCCESS
SPTBN5	51332	.	GRCh37	15	42159172	42159172	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	37	64	0	ENST00000320955.6:c.6465C>T	p.Thr2155=	p.T2155=	ENST00000320955	NM_016642.3	2155	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS61599.1	6465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGGTGAA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000317790	.	36/68	.	.	.	.	.	.	.	.	.	36/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,synonymous_variant,p.%3D,ENST00000320955,;MIR4310,upstream_gene_variant,,ENST00000582950,;	6693	64	87	SUCCESS
GOLGA6D	653643	.	GRCh37	15	75586787	75586787	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	271	9	192	0	ENST00000434739.3:c.2053C>T	p.Gln685Ter	p.Q685*	ENST00000434739	NM_001145224.1	685	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS45308.1	2053	MUTECT|MUSE	.	TCGTGCAGCTG	NONE	.	.	hmmpanther:PTHR10881,Pfam_domain:PF15070	.	.	ENSP00000391085	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000434739	Transcript	.	.	ENSG00000140478	32204	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOG6D_HUMAN	GOLGA6D	HGNC	.	.	UPI00001AEE2C	SNV	GOLGA6D,stop_gained,p.Gln685Ter,ENST00000434739,;RN7SL327P,downstream_gene_variant,,ENST00000488659,;	2094	192	280	SUCCESS
MEX3B	84206	.	GRCh37	15	82336824	82336824	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	5	52	0	ENST00000329713.4:c.387T>C	p.Ser129=	p.S129=	ENST00000329713	NM_032246.4	129	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS10319.1	387	MUTECT|MUSE	.	GCAGCAGAGAT	NONE	.	.	hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000329918	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329713	Transcript	.	.	ENSG00000183496	25297	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MEX3B_HUMAN	MEX3B	HGNC	.	.	UPI00001982CC	SNV	MEX3B,synonymous_variant,p.%3D,ENST00000329713,;MEX3B,3_prime_UTR_variant,,ENST00000558133,;AC026956.1,downstream_gene_variant,,ENST00000410589,;	823	52	102	SUCCESS
KIAA0556	0	.	GRCh37	16	27772791	27772791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	50	0	ENST00000261588.4:c.3689G>A	p.Gly1230Asp	p.G1230D	ENST00000261588	NM_015202.2	1230	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32415.1	3689	MUTECT|MUSE	.	CACTGGCCTGG	NONE	.	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534,Pfam_domain:PF14652	.	.	ENSP00000261588	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,missense_variant,p.Gly1230Asp,ENST00000261588,;	3708	50	88	SUCCESS
SLC6A10P	386757	.	GRCh37	16	32891000	32891000	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	67	48	0	ENST00000330048.5:n.2967C>T		p.*989*	ENST00000330048				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGGCTGA	NONE	.	.	.	.	.	.	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000330048	Transcript	.	.	ENSG00000214617	11043	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC6A10P	HGNC	.	.	.	SNV	SLC6A10P,non_coding_transcript_exon_variant,,ENST00000330048,;SLC6A10P,downstream_gene_variant,,ENST00000561837,;SLC6A10P,non_coding_transcript_exon_variant,,ENST00000431994,;	2967	48	97	SUCCESS
RP11-80F22.9	0	.	GRCh37	16	34712195	34712195	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	17	0	ENST00000569028.2:n.1160C>T		p.*387*	ENST00000569028				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGAATGG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000569028	Transcript	.	.	ENSG00000261711	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-80F22.9	Clone_based_vega_gene	.	.	.	SNV	RP11-80F22.9,non_coding_transcript_exon_variant,,ENST00000569028,;RP11-80F22.9,downstream_gene_variant,,ENST00000564452,;RP11-80F22.9,downstream_gene_variant,,ENST00000566967,;	1160	17	29	SUCCESS
CNGB1	1258	.	GRCh37	16	57951296	57951296	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758706365	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	353	129	215	2	ENST00000251102.8:c.2042C>T	p.Pro681Leu	p.P681L	ENST00000251102	NM_001297.4	681	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42169.1	2042	RADIA|SOMATICSNIPER|VARSCANS	.	GGTAGGGGAAG	NONE	byFrequency	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000251102	.	21/33	.	.	.	.	.	.	.	.	rs758706365	21/33	PASS	ENST00000251102	Transcript	.	.	ENSG00000070729	2151	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	CNGB1_HUMAN	CNGB1	HGNC	H3BQC3_HUMAN	.	UPI000013CCDF	SNV	CNGB1,missense_variant,p.Pro675Leu,ENST00000564448,;CNGB1,missense_variant,p.Pro681Leu,ENST00000251102,;	2103	217	483	SUCCESS
DNAH9	1770	.	GRCh37	17	11725907	11725907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	48	104	0	ENST00000262442.4:c.9003G>T	p.Glu3001Asp	p.E3001D	ENST00000262442	NM_001372.3	3001	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS11160.1	9003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGGGCAT	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12780,Superfamily_domains:SSF52540	.	.	ENSP00000262442	.	47/69	.	.	.	.	.	.	.	.	.	47/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Glu3001Asp,ENST00000454412,;DNAH9,missense_variant,p.Glu3001Asp,ENST00000262442,;	9071	104	113	SUCCESS
ZNF287	57336	.	GRCh37	17	16470785	16470785	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	8	96	0	ENST00000395824.1:c.261A>C	p.Gln87His	p.Q87H	ENST00000395824		87	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS11179.2	261	MUTECT|MUSE	.	AAAATTTGTTC	NONE	.	.	PROSITE_profiles:PS50804,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000379168	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000395824	Transcript	.	.	ENSG00000141040	13502	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZN287_HUMAN	ZNF287	HGNC	C9JAV4_HUMAN	.	UPI0000200A57	SNV	ZNF287,missense_variant,p.Gln87His,ENST00000395824,;ZNF287,missense_variant,p.Gln87His,ENST00000395825,;ZNF287,downstream_gene_variant,,ENST00000448349,;ZNF287,non_coding_transcript_exon_variant,,ENST00000578303,;ZNF287,downstream_gene_variant,,ENST00000461555,;ZNF287,upstream_gene_variant,,ENST00000498796,;	879	96	157	SUCCESS
ALKBH5	54890	.	GRCh37	17	18110272	18110272	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	66	0	ENST00000399138.4:c.995A>T	p.Asp332Val	p.D332V	ENST00000399138	NM_017758.3	332	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS42272.1	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGATGCTG	NONE	.	.	hmmpanther:PTHR32074:SF2,hmmpanther:PTHR32074	.	.	ENSP00000382091	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000399138	Transcript	.	.	ENSG00000091542	25996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious_low_confidence(0)	.	ALKB5_HUMAN	ALKBH5	HGNC	K7ER58_HUMAN	.	UPI0000200AE2	SNV	ALKBH5,missense_variant,p.Asp332Val,ENST00000399138,;ALKBH5,5_prime_UTR_variant,,ENST00000541285,;ALKBH5,non_coding_transcript_exon_variant,,ENST00000490106,;	1000	66	113	SUCCESS
TRPV1	7442	.	GRCh37	17	3481004	3481004	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	77	135	0	ENST00000399756.4:c.1601T>G	p.Leu534Arg	p.L534R	ENST00000399756	NM_080706.3	534	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS45576.1	1601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGAGGTGG	NONE	.	.	hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870	.	.	ENSP00000459962	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000572705	Transcript	.	.	ENSG00000262304	1492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.38)	.	.	SHPK	Uniprot_gn	Q8IZY9_HUMAN	.	UPI00005B2E0C	SNV	SHPK,missense_variant,p.Leu534Arg,ENST00000572705,;TRPV1,missense_variant,p.Leu534Arg,ENST00000571088,;TRPV1,missense_variant,p.Leu545Arg,ENST00000425167,;TRPV1,missense_variant,p.Leu474Arg,ENST00000310522,;TRPV1,missense_variant,p.Leu524Arg,ENST00000576351,;TRPV1,missense_variant,p.Leu534Arg,ENST00000399759,;TRPV1,missense_variant,p.Leu534Arg,ENST00000399756,;TRPV1,missense_variant,p.Leu532Arg,ENST00000174621,;RP11-235E17.3,downstream_gene_variant,,ENST00000573568,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;TRPV1,non_coding_transcript_exon_variant,,ENST00000570742,;	1876	135	150	SUCCESS
ARHGAP23	57636	.	GRCh37	17	36622415	36622415	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1448369816	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	27	0	ENST00000431231.2:c.491C>T	p.Ser164Phe	p.S164F	ENST00000431231	NM_001199417.1	164	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS56027.1	491	MUTECT|MUSE	.	CTACTCCCAGG	NONE	.	.	hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5	.	.	ENSP00000393539	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000431231	Transcript	.	.	ENSG00000225485	29293	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RHG23_HUMAN	ARHGAP23	HGNC	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN	.	UPI0000F3BE51	SNV	ARHGAP23,missense_variant,p.Ser164Phe,ENST00000431231,;ARHGAP23,missense_variant,p.Ser70Phe,ENST00000443378,;ARHGAP23,missense_variant,p.Ser70Phe,ENST00000549246,;ARHGAP23,missense_variant,p.Ser164Phe,ENST00000437668,;ARHGAP23,upstream_gene_variant,,ENST00000548333,;	559	27	45	SUCCESS
CWC25	54883	.	GRCh37	17	36958366	36958366	+	synonymous_variant	Silent	SNP	C	C	T	rs1323613499	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	60	0	ENST00000225428.5:c.1257G>A	p.Glu419=	p.E419=	ENST00000225428	NM_017748.4	419	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS45663.1	1257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTCCAG	NONE	.	.	hmmpanther:PTHR16196	.	.	ENSP00000225428	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000225428	Transcript	.	.	ENSG00000108296	25989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CWC25_HUMAN	CWC25	HGNC	B4DZL1_HUMAN	.	UPI000007081D	SNV	CWC25,synonymous_variant,p.%3D,ENST00000225428,;CWC25,synonymous_variant,p.%3D,ENST00000536127,;PIP4K2B,upstream_gene_variant,,ENST00000581097,;PIP4K2B,upstream_gene_variant,,ENST00000269554,;PIP4K2B,upstream_gene_variant,,ENST00000311500,;CWC25,3_prime_UTR_variant,,ENST00000585298,;CWC25,downstream_gene_variant,,ENST00000582713,;CWC25,downstream_gene_variant,,ENST00000578906,;CWC25,downstream_gene_variant,,ENST00000581092,;CWC25,downstream_gene_variant,,ENST00000584007,;	1555	60	104	SUCCESS
FKBP10	60681	.	GRCh37	17	39975544	39975544	+	synonymous_variant	Silent	SNP	A	A	G	rs782604150	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	6	97	0	ENST00000321562.4:c.810A>G	p.Leu270=	p.L270=	ENST00000321562	NM_021939.3	270	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11409.1	810	MUTECT|MUSE	.	CAGCTAGAGAC	NONE	.	.	Superfamily_domains:SSF54534,Superfamily_domains:SSF54534,Gene3D:3.10.50.40,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF247	.	.	ENSP00000317232	.	5/10	.	.	.	.	.	.	.	.	rs782604150	5/10	PASS	ENST00000321562	Transcript	.	.	ENSG00000141756	18169	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FKB10_HUMAN	FKBP10	HGNC	K7ESG6_HUMAN,K7ELI6_HUMAN,C9JPC3_HUMAN	.	UPI000012A80A	SNV	FKBP10,synonymous_variant,p.%3D,ENST00000455106,;FKBP10,synonymous_variant,p.%3D,ENST00000321562,;FKBP10,5_prime_UTR_variant,,ENST00000544340,;FKBP10,downstream_gene_variant,,ENST00000429461,;FKBP10,downstream_gene_variant,,ENST00000585664,;FKBP10,downstream_gene_variant,,ENST00000585922,;FKBP10,3_prime_UTR_variant,,ENST00000489591,;FKBP10,non_coding_transcript_exon_variant,,ENST00000487489,;FKBP10,upstream_gene_variant,,ENST00000464180,;FKBP10,upstream_gene_variant,,ENST00000490938,;	914	97	140	SUCCESS
ZACN	353174	.	GRCh37	17	74076379	74076379	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	65	121	0	ENST00000334586.5:c.418G>C	p.Asp140His	p.D140H	ENST00000334586	NM_180990.3	140	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS11740.2	418	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTAGACCAG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF398,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000334854	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000334586	Transcript	.	.	ENSG00000186919	29504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.3)	.	ZACN_HUMAN	ZACN	HGNC	.	.	UPI0000E5A0B8	SNV	ZACN,missense_variant,p.Asp140His,ENST00000334586,;ZACN,intron_variant,,ENST00000392503,;EXOC7,downstream_gene_variant,,ENST00000589210,;EXOC7,downstream_gene_variant,,ENST00000357231,;EXOC7,downstream_gene_variant,,ENST00000332065,;GALR2,downstream_gene_variant,,ENST00000329003,;EXOC7,downstream_gene_variant,,ENST00000335146,;EXOC7,downstream_gene_variant,,ENST00000467929,;EXOC7,downstream_gene_variant,,ENST00000411744,;EXOC7,downstream_gene_variant,,ENST00000405575,;EXOC7,downstream_gene_variant,,ENST00000607838,;EXOC7,downstream_gene_variant,,ENST00000591724,;ZACN,missense_variant,p.Asp140His,ENST00000425015,;ZACN,intron_variant,,ENST00000421794,;EXOC7,downstream_gene_variant,,ENST00000494787,;EXOC7,downstream_gene_variant,,ENST00000467586,;EXOC7,downstream_gene_variant,,ENST00000465252,;ZACN,upstream_gene_variant,,ENST00000590045,;ZACN,downstream_gene_variant,,ENST00000591500,;ZACN,downstream_gene_variant,,ENST00000524242,;	501	121	214	SUCCESS
DNAH17	8632	.	GRCh37	17	76440846	76440846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	57	106	0	ENST00000389840.5:c.11326G>T	p.Asp3776Tyr	p.D3776Y	ENST00000389840		3776	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	.	11326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTCCAGAT	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374490	.	71/81	.	.	.	.	.	.	.	.	.	71/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Asp3785Tyr,ENST00000585328,;DNAH17,missense_variant,p.Asp3776Tyr,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,missense_variant,p.Asp991Tyr,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;	11451	106	176	SUCCESS
CDH7	1005	.	GRCh37	18	63489356	63489356	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	41	125	0	ENST00000323011.3:c.665C>T	p.Ala222Val	p.A222V	ENST00000323011	NM_033646.1	222	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11993.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCTAAAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381058	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.43)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Ala222Val,ENST00000397968,;CDH7,missense_variant,p.Ala222Val,ENST00000536984,;CDH7,missense_variant,p.Ala222Val,ENST00000323011,;	1091	125	163	SUCCESS
GALR1	2587	.	GRCh37	18	74980684	74980684	+	synonymous_variant	Silent	SNP	G	G	T	rs199730182	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	37	69	0	ENST00000299727.3:c.876G>T	p.Ala292=	p.A292=	ENST00000299727	NM_001480.3	292	gcG/gcT	0	A:0	.	.	.	.	T	A	protein_coding	YES	CCDS12012.1	876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGTACAG	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF31,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00663	.	A:0.0001	ENSP00000299727	.	3/3	.	.	.	.	.	.	.	.	rs199730182,COSM3527729	3/3	PASS	ENST00000299727	Transcript	.	.	ENSG00000166573	4132	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GALR1_HUMAN	GALR1	HGNC	.	.	UPI000013E5DE	SNV	GALR1,synonymous_variant,p.%3D,ENST00000299727,;	876	69	111	SUCCESS
FFAR2	2867	.	GRCh37	19	35940974	35940974	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1170543638	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	50	137	0	ENST00000246549.2:c.358T>G	p.Ser120Ala	p.S120A	ENST00000246549	NM_005306.2	120	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS12461.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTCCCGC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF8,PROSITE_profiles:PS50262	.	.	ENSP00000473159	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000599180	Transcript	.	.	ENSG00000126262	4501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.52)	.	FFAR2_HUMAN	FFAR2	HGNC	C6KYL4_HUMAN	.	UPI0000050459	SNV	FFAR2,missense_variant,p.Ser120Ala,ENST00000246549,;FFAR2,missense_variant,p.Ser120Ala,ENST00000599180,;FFAR2,intron_variant,,ENST00000601590,;	438	137	168	SUCCESS
CEACAM3	1084	.	GRCh37	19	42311281	42311281	+	intron_variant	Intron	SNP	C	C	A	rs772434865	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	75	116	0	ENST00000357396.3:c.425-1570C>A		p.*142*	ENST00000357396	NM_001815.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12586.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGGTCA	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000349971	.	.	.	.	.	.	.	.	.	.	rs772434865	.	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,intron_variant,,ENST00000357396,;CEACAM3,intron_variant,,ENST00000344550,;CEACAM3,intron_variant,,ENST00000221999,;CEACAM3,splice_region_variant,,ENST00000595255,;CEACAM3,upstream_gene_variant,,ENST00000599662,;CEACAM3,3_prime_UTR_variant,,ENST00000415495,;	.	117	213	SUCCESS
MEIS3	56917	.	GRCh37	19	47910667	47910667	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	32	0	ENST00000558555.1:c.877G>C	p.Glu293Gln	p.E293Q	ENST00000558555		293	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS33064.1	1015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCTCCG	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF05920,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF71,PROSITE_profiles:PS50071	.	.	ENSP00000453307	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000561293	Transcript	.	.	ENSG00000105419	29537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	MEIS3_HUMAN	MEIS3	HGNC	.	.	UPI000006FB11	SNV	MEIS3,missense_variant,p.Glu276Gln,ENST00000441740,;MEIS3,missense_variant,p.Glu168Gln,ENST00000560245,;MEIS3,missense_variant,p.Glu381Gln,ENST00000561096,;MEIS3,missense_variant,p.Glu94Gln,ENST00000607695,;MEIS3,missense_variant,p.Glu339Gln,ENST00000561293,;MEIS3,missense_variant,p.Glu293Gln,ENST00000558555,;MEIS3,missense_variant,p.Glu322Gln,ENST00000331559,;MEIS3,missense_variant,p.Glu339Gln,ENST00000559524,;MEIS3,downstream_gene_variant,,ENST00000559338,;MEIS3,non_coding_transcript_exon_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;	1222	32	63	SUCCESS
MIR524	574478	.	GRCh37	19	54214286	54214286	+	mature_miRNA_variant	RNA	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	49	138	2	ENST00000385242.1:n.31C>A		p.*11*	ENST00000385242				0	.	.	.	.	.	A	.	miRNA	YES	.	.	RADIA|VARSCANS	.	AAGCACTTTCT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385242	Transcript	.	.	ENSG00000207977	32110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MIR524	HGNC	.	.	.	SNV	MIR524,mature_miRNA_variant,,ENST00000385242,;MIR517A,upstream_gene_variant,,ENST00000385001,;MIR518C,downstream_gene_variant,,ENST00000384822,;MIR520C,downstream_gene_variant,,ENST00000385005,;MIR519D,upstream_gene_variant,,ENST00000385246,;MIR526A1,downstream_gene_variant,,ENST00000384897,;	31	141	129	SUCCESS
ZNF329	79673	.	GRCh37	19	58640290	58640290	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	88	0	ENST00000358067.4:c.581A>G	p.Gln194Arg	p.Q194R	ENST00000358067		194	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS12972.1	581	MUTECT|MUSE	.	TTCTCTGGTTT	NONE	.	.	hmmpanther:PTHR24381:SF118,hmmpanther:PTHR24381,Superfamily_domains:SSF57667	.	.	ENSP00000470008	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000598312	Transcript	.	.	ENSG00000181894	14209	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.36)	.	ZN329_HUMAN	ZNF329	HGNC	M0R136_HUMAN	.	UPI0000246E79	SNV	ZNF329,missense_variant,p.Gln194Arg,ENST00000598312,;ZNF329,missense_variant,p.Gln194Arg,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,missense_variant,p.Gln194Arg,ENST00000500161,;ZNF329,missense_variant,p.Gln194Arg,ENST00000597186,;	815	88	79	SUCCESS
GJA8	2703	.	GRCh37	1	147381088	147381088	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	181	29	99	0	ENST00000369235.1:c.1007del	p.Pro336ArgfsTer21	p.P336Rfs*21	ENST00000369235		336	Ccg/cg	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS30834.1	1006	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGGGCCGCCT	NONE	.	.	hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984,Low_complexity_(Seg):seg	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	deletion	GJA8,frameshift_variant,p.Pro336ArgfsTer21,ENST00000240986,;GJA8,frameshift_variant,p.Pro336ArgfsTer21,ENST00000369235,;	1059	99	210	SUCCESS
S100A4	6275	.	GRCh37	1	153517143	153517143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	49	100	0	ENST00000354332.4:c.128C>A	p.Pro43His	p.P43H	ENST00000354332	NM_019554.2	43	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS1042.1	128	RADIA|MUTECT|MUSE	.	AGCTGGGCAGC	NONE	.	.	hmmpanther:PTHR11639:SF15,hmmpanther:PTHR11639,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357705	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000368716	Transcript	.	.	ENSG00000196154	10494	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	S10A4_HUMAN	S100A4	HGNC	.	.	UPI000003417D	SNV	S100A4,missense_variant,p.Pro43His,ENST00000354332,;S100A4,missense_variant,p.Pro43His,ENST00000368715,;S100A4,missense_variant,p.Pro43His,ENST00000368714,;S100A4,missense_variant,p.Pro43His,ENST00000368716,;S100A5,upstream_gene_variant,,ENST00000368717,;S100A3,downstream_gene_variant,,ENST00000368713,;S100A5,upstream_gene_variant,,ENST00000368718,;S100A3,downstream_gene_variant,,ENST00000368712,;S100A5,upstream_gene_variant,,ENST00000359215,;S100A4,non_coding_transcript_exon_variant,,ENST00000481009,;S100A4,non_coding_transcript_exon_variant,,ENST00000468373,;	276	100	165	SUCCESS
SLC27A3	11000	.	GRCh37	1	153750269	153750269	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs771059232	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	10	94	0	ENST00000368661.3:c.1210G>C	p.Ala404Pro	p.A404P	ENST00000368661	NM_024330.1	404	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS1053.1	1210	MUTECT|MUSE	.	TCTCGGCTGGT	NONE	byFrequency	.	hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	.	.	ENSP00000357650	.	4/10	.	.	.	.	.	.	.	.	rs771059232	4/10	PASS	ENST00000368661	Transcript	.	.	ENSG00000143554	10997	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S27A3_HUMAN	SLC27A3	HGNC	.	.	UPI0000038E9E	SNV	SLC27A3,missense_variant,p.Ala109Pro,ENST00000458027,;SLC27A3,missense_variant,p.Ala485Pro,ENST00000271857,;SLC27A3,missense_variant,p.Ala404Pro,ENST00000368661,;SLC27A3,upstream_gene_variant,,ENST00000524676,;INTS3,downstream_gene_variant,,ENST00000435409,;INTS3,downstream_gene_variant,,ENST00000318967,;SLC27A3,upstream_gene_variant,,ENST00000532853,;INTS3,downstream_gene_variant,,ENST00000512605,;INTS3,downstream_gene_variant,,ENST00000456435,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000461269,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,intron_variant,,ENST00000483574,;INTS3,downstream_gene_variant,,ENST00000503133,;SLC27A3,upstream_gene_variant,,ENST00000468044,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,upstream_gene_variant,,ENST00000368659,;SLC27A3,upstream_gene_variant,,ENST00000531251,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000481797,;	1275	94	238	SUCCESS
OR6K3	391114	.	GRCh37	1	158687039	158687039	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	445	10	275	0	ENST00000368146.1:c.915T>C	p.Tyr305=	p.Y305=	ENST00000368146		305	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS30903.2	867	MUTECT|MUSE	.	AGGCTATAAAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF35,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000357127	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368145	Transcript	.	.	ENSG00000203757	15030	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR6K3_HUMAN	OR6K3	HGNC	.	.	UPI0000061E5F	SNV	OR6K3,synonymous_variant,p.%3D,ENST00000368146,;OR6K3,synonymous_variant,p.%3D,ENST00000368145,;	867	275	455	SUCCESS
KIFAP3	22920	.	GRCh37	1	170043732	170043732	+	5_prime_UTR_variant	5'UTR	INS	C	C	AA	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	16	33	0	ENST00000361580.2:c.-124delinsTT		p.*42*	ENST00000361580	NM_014970.3			0	.	.	.	.	.	AA	.	protein_coding	YES	CCDS1288.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GCAAGGCGGGGC	NONE	.	.	.	.	.	ENSP00000354560	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000361580	Transcript	.	.	ENSG00000075945	17060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIFA3_HUMAN	KIFAP3	HGNC	B7Z7E7_HUMAN	.	UPI000006CD6C	substitution	KIFAP3,5_prime_UTR_variant,,ENST00000361580,;KIFAP3,5_prime_UTR_variant,,ENST00000538366,;KIFAP3,upstream_gene_variant,,ENST00000367767,;KIFAP3,intron_variant,,ENST00000490550,;	105	33	75	SUCCESS
CACNA1S	779	.	GRCh37	1	201058470	201058470	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	221	155	183	0	ENST00000362061.3:c.816C>T	p.Ile272=	p.I272=	ENST00000362061	NM_000069.2	272	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS1407.1	816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTGATGCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	6/44	.	.	.	.	.	.	.	.	.	6/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,synonymous_variant,p.%3D,ENST00000367338,;CACNA1S,synonymous_variant,p.%3D,ENST00000362061,;	1043	183	376	SUCCESS
USH2A	7399	.	GRCh37	1	215960064	215960064	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	324	129	209	0	ENST00000307340.3:c.10335A>G	p.Ser3445=	p.S3445=	ENST00000307340	NM_206933.2	3445	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31025.1	10335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATGAACA	NONE	.	.	SMART_domains:SM00060,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	52/72	.	.	.	.	.	.	.	.	.	52/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,synonymous_variant,p.%3D,ENST00000366943,;USH2A,synonymous_variant,p.%3D,ENST00000307340,;	10722	209	454	SUCCESS
MARC2	0	.	GRCh37	1	220935024	220935024	+	synonymous_variant	Silent	SNP	C	C	T	rs771147912	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	122	120	0	ENST00000366913.3:c.471C>T	p.Gly157=	p.G157=	ENST00000366913	NM_017898.3	157	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1525.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGCAGAGA	NONE	.	.	Superfamily_domains:0052540,Pfam_domain:PF03476,hmmpanther:PTHR14237:SF17,hmmpanther:PTHR14237	.	.	ENSP00000355880	.	3/8	.	.	.	.	.	.	.	.	rs771147912	3/8	PASS	ENST00000366913	Transcript	.	.	ENSG00000117791	26064	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOSC2_HUMAN	MARC2	HGNC	.	.	UPI000003ED29	SNV	MARC2,synonymous_variant,p.%3D,ENST00000425560,;MARC2,synonymous_variant,p.%3D,ENST00000366913,;MARC2,synonymous_variant,p.%3D,ENST00000359316,;MARC2,non_coding_transcript_exon_variant,,ENST00000496078,;	669	120	243	SUCCESS
MIA3	375056	.	GRCh37	1	222805522	222805522	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766911071	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	298	88	184	1	ENST00000344922.5:c.3185A>G	p.His1062Arg	p.H1062R	ENST00000344922	NM_198551.2	1062	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS41470.1	3185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCATGAAG	NONE	byFrequency	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	.	ENSP00000340900	.	5/28	.	.	.	.	.	.	.	.	rs766911071	5/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.54)	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,missense_variant,p.His1062Arg,ENST00000344922,;MIA3,missense_variant,p.His645Arg,ENST00000354906,;MIA3,missense_variant,p.His1062Arg,ENST00000344441,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	3210	185	386	SUCCESS
ZBTB40	9923	.	GRCh37	1	22848029	22848029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	443	202	410	1	ENST00000375647.4:c.3089C>A	p.Pro1030His	p.P1030H	ENST00000375647	NM_014870.3	1030	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS224.1	3089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCTGACG	NONE	.	.	hmmpanther:PTHR24394:SF0,hmmpanther:PTHR24394	.	.	ENSP00000384527	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000404138	Transcript	.	.	ENSG00000184677	29045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0)	.	ZBT40_HUMAN	ZBTB40	HGNC	B1AKC8_HUMAN	.	UPI0000204652	SNV	ZBTB40,missense_variant,p.Pro1030His,ENST00000404138,;ZBTB40,missense_variant,p.Pro1030His,ENST00000375647,;ZBTB40,missense_variant,p.Pro918His,ENST00000374651,;ZBTB40-IT1,downstream_gene_variant,,ENST00000438551,;	3600	411	646	SUCCESS
PGBD5	79605	.	GRCh37	1	230468595	230468595	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	239	18	175	0	ENST00000525115.1:c.1061A>G	p.Gln354Arg	p.Q354R	ENST00000525115		354	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	.	1061	MUTECT|MUSE	.	CCTGCTGCACC	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000431404	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000525115	Transcript	.	.	ENSG00000177614	19405	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.23)	.	PGBD5_HUMAN	PGBD5	HGNC	.	.	UPI0001D34147	SNV	PGBD5,missense_variant,p.Gln453Arg,ENST00000321327,;PGBD5,missense_variant,p.Gln308Arg,ENST00000391860,;PGBD5,missense_variant,p.Gln354Arg,ENST00000525115,;PGBD5,non_coding_transcript_exon_variant,,ENST00000530424,;	1085	175	257	SUCCESS
RYR2	6262	.	GRCh37	1	237823313	237823313	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	50	0	ENST00000366574.2:c.8237T>C	p.Ile2746Thr	p.I2746T	ENST00000366574	NM_001035.2	2746	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS55691.1	8237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATATATT	NONE	.	.	Pfam_domain:PF02026,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	55/105	.	.	.	.	.	.	.	.	.	55/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ile2730Thr,ENST00000542537,;RYR2,missense_variant,p.Ile2746Thr,ENST00000366574,;RYR2,missense_variant,p.Ile2744Thr,ENST00000360064,;	8554	50	54	SUCCESS
OR2M7	391196	.	GRCh37	1	248487546	248487546	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	175	188	1	ENST00000317965.2:c.325G>C	p.Gly109Arg	p.G109R	ENST00000317965	NM_001004691.1	109	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS31111.1	325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCAAGCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000324557	.	1/1	.	.	.	.	.	.	.	.	COSM1502213	1/1	PASS	ENST00000317965	Transcript	.	.	ENSG00000177186	19594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.983)	.	deleterious(0.01)	1	OR2M7_HUMAN	OR2M7	HGNC	.	.	UPI000004B236	SNV	OR2M7,missense_variant,p.Gly109Arg,ENST00000317965,;	354	189	387	SUCCESS
MEGF6	1953	.	GRCh37	1	3432019	3432019	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375609074	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	57	118	0	ENST00000356575.4:c.677G>A	p.Arg226His	p.R226H	ENST00000356575	NM_001409.3	226	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS41237.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGATGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24035:SF29,hmmpanther:PTHR24035,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	T:0.0001	ENSP00000348982	.	6/37	.	.	.	.	.	.	.	.	rs375609074	6/37	PASS	ENST00000356575	Transcript	.	.	ENSG00000162591	3232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.457)	.	deleterious(0.04)	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,missense_variant,p.Arg226His,ENST00000356575,;MEGF6,missense_variant,p.Arg121His,ENST00000294599,;MEGF6,missense_variant,p.Arg233His,ENST00000485002,;	904	119	171	SUCCESS
KIAA0754	23499	.	GRCh37	1	39879769	39879769	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755120640	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	51	82	0	ENST00000530275.1:c.3424G>A	p.Glu1142Lys	p.E1142K	ENST00000530275	NM_015038.1	1142	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	3424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGAGGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000431179	.	1/1	.	.	.	.	.	.	.	.	rs755120640	1/1	PASS	ENST00000530275	Transcript	.	.	ENSG00000255103	29111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.502)	.	.	.	K0754_HUMAN	KIAA0754	HGNC	.	.	UPI0000DD78B2	SNV	KIAA0754,missense_variant,p.Glu1142Lys,ENST00000530275,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;MACF1,upstream_gene_variant,,ENST00000482035,;	3619	82	133	SUCCESS
CD93	22918	.	GRCh37	20	23065572	23065572	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	68	140	0	ENST00000246006.4:c.1258G>A	p.Glu420Lys	p.E420K	ENST00000246006	NM_012072.3	420	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13149.1	1258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCCCCGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,Pfam_domain:PF07645,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000246006	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000246006	Transcript	.	.	ENSG00000125810	15855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.17)	.	C1QR1_HUMAN	CD93	HGNC	.	.	UPI00001273BC	SNV	CD93,missense_variant,p.Glu420Lys,ENST00000246006,;AL118508.1,upstream_gene_variant,,ENST00000539654,;	1406	140	200	SUCCESS
NOP56	10528	.	GRCh37	20	2635207	2635207	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	59	164	0	ENST00000329276.5:c.356C>G	p.Ala119Gly	p.A119G	ENST00000329276	NM_006392.3	119	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS13030.1	356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGCTGAGA	NONE	.	.	hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894	.	.	ENSP00000370589	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000329276	Transcript	1	.	ENSG00000101361	15911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated(0.31)	.	NOP56_HUMAN	NOP56	HGNC	Q9BSN3_HUMAN	.	UPI000016A81D	SNV	NOP56,missense_variant,p.Ala119Gly,ENST00000445139,;NOP56,missense_variant,p.Ala119Gly,ENST00000329276,;IDH3B,downstream_gene_variant,,ENST00000380851,;IDH3B,downstream_gene_variant,,ENST00000380843,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORD86,upstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORA51,upstream_gene_variant,,ENST00000606420,;MIR1292,downstream_gene_variant,,ENST00000408135,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,upstream_gene_variant,,ENST00000413522,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;IDH3B,downstream_gene_variant,,ENST00000474315,;NOP56,upstream_gene_variant,,ENST00000480992,;IDH3B,downstream_gene_variant,,ENST00000492240,;NOP56,upstream_gene_variant,,ENST00000480447,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000492135,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000470143,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,upstream_gene_variant,,ENST00000467196,;	872	164	185	SUCCESS
BPIFB2	80341	.	GRCh37	20	31609598	31609598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	86	0	ENST00000170150.3:c.1328T>C	p.Val443Ala	p.V443A	ENST00000170150	NM_025227.2	443	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS13210.1	1328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTCTATG	NONE	.	.	Superfamily_domains:SSF55394,SMART_domains:SM00329,Gene3D:1ewfA02,Pfam_domain:PF02886,hmmpanther:PTHR10504:SF68,hmmpanther:PTHR10504	.	.	ENSP00000170150	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000170150	Transcript	.	.	ENSG00000078898	16177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0)	.	BPIB2_HUMAN	BPIFB2	HGNC	.	.	UPI00000377B0	SNV	BPIFB2,missense_variant,p.Val443Ala,ENST00000170150,;	1523	86	104	SUCCESS
ZSWIM3	140831	.	GRCh37	20	44506970	44506970	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	100	203	0	ENST00000255152.2:c.1773C>G	p.Leu591=	p.L591=	ENST00000255152	NM_080752.3	591	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS13381.1	1773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTCCTTGG	NONE	.	.	hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569	.	.	ENSP00000255152	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000255152	Transcript	.	.	ENSG00000132801	16157	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSWM3_HUMAN	ZSWIM3	HGNC	.	.	UPI00000736E4	SNV	ZSWIM3,synonymous_variant,p.%3D,ENST00000454862,;ZSWIM3,synonymous_variant,p.%3D,ENST00000255152,;ZSWIM1,upstream_gene_variant,,ENST00000372520,;ZSWIM1,upstream_gene_variant,,ENST00000372523,;	1982	203	326	SUCCESS
PLCB4	5332	.	GRCh37	20	9371192	9371192	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1250769070	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	84	0	ENST00000278655.4:c.1253A>G	p.Tyr418Cys	p.Y418C	ENST00000278655	NM_182797.2	418	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13104.1	1253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTACAAGA	NONE	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695	.	.	ENSP00000367762	.	14/36	.	.	.	.	.	.	.	.	.	14/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.03)	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Tyr418Cys,ENST00000334005,;PLCB4,missense_variant,p.Tyr418Cys,ENST00000414679,;PLCB4,missense_variant,p.Tyr418Cys,ENST00000278655,;PLCB4,missense_variant,p.Tyr418Cys,ENST00000378473,;PLCB4,missense_variant,p.Tyr418Cys,ENST00000378493,;PLCB4,missense_variant,p.Tyr418Cys,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	1268	84	94	SUCCESS
UMODL1	89766	.	GRCh37	21	43547324	43547324	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	39	135	0	ENST00000408910.2:c.3502C>A	p.Pro1168Thr	p.P1168T	ENST00000408910	NM_001004416.2	1168	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS42935.1	3886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCCCATC	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,PROSITE_profiles:PS51034	.	.	ENSP00000386126	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Pro1168Thr,ENST00000408910,;UMODL1,missense_variant,p.Pro1296Thr,ENST00000408989,;UMODL1,missense_variant,p.Pro1096Thr,ENST00000400424,;UMODL1,missense_variant,p.Pro1224Thr,ENST00000400427,;UMODL1,non_coding_transcript_exon_variant,,ENST00000400423,;UMODL1,downstream_gene_variant,,ENST00000484174,;UMODL1,upstream_gene_variant,,ENST00000484712,;	3886	135	152	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125547604	125547604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	89	213	1	ENST00000431078.1:c.2875C>A	p.His959Asn	p.H959N	ENST00000431078	NM_130773.3	959	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS46401.1	2875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCCACTGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,SMART_domains:SM00181	.	.	ENSP00000399013	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.His959Asn,ENST00000431078,;	3239	215	305	SUCCESS
NXPH2	11249	.	GRCh37	2	139428566	139428566	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	55	0	ENST00000272641.3:c.721G>C	p.Asp241His	p.D241H	ENST00000272641	NM_007226.2	241	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS46421.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCAACAC	NONE	.	.	hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	.	.	ENSP00000272641	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000272641	Transcript	.	.	ENSG00000144227	8076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NXPH2_HUMAN	NXPH2	HGNC	.	.	UPI000023FCD4	SNV	NXPH2,missense_variant,p.Asp241His,ENST00000272641,;	828	55	85	SUCCESS
NEB	4703	.	GRCh37	2	152521270	152521270	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	83	173	0	ENST00000172853.10:c.5343+3A>C		p.X1781_splice	ENST00000172853		1781		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54407.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTTACATC	NONE	.	.	.	.	.	ENSP00000380505	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	LOW	43/181	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,splice_region_variant,,ENST00000603639,;NEB,splice_region_variant,,ENST00000172853,;NEB,splice_region_variant,,ENST00000427231,;NEB,splice_region_variant,,ENST00000397345,;NEB,splice_region_variant,,ENST00000604864,;NEB,splice_region_variant,,ENST00000409198,;NEB,downstream_gene_variant,,ENST00000484968,;	.	173	234	SUCCESS
HOXD12	3238	.	GRCh37	2	176964643	176964643	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	34	0	ENST00000406506.2:c.114G>C	p.Ala38=	p.A38=	ENST00000406506		38	gcG/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46456.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGCTTCC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF40	.	.	ENSP00000385586	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000406506	Transcript	.	.	ENSG00000170178	5135	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXD12_HUMAN	HOXD12	HGNC	.	.	UPI0000EE2EA3	SNV	HOXD12,synonymous_variant,p.%3D,ENST00000404162,;HOXD12,synonymous_variant,p.%3D,ENST00000406506,;HOXD13,downstream_gene_variant,,ENST00000392539,;HOXD11,upstream_gene_variant,,ENST00000498438,;	186	34	44	SUCCESS
TTN	7273	.	GRCh37	2	179448634	179448634	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs1229364369	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	35	92	0	ENST00000591111.1:c.60353-1G>T		p.X20118_splice	ENST00000591111		20118		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59435.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCTAAAA	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	311/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,splice_acceptor_variant,,ENST00000359218,;TTN,splice_acceptor_variant,,ENST00000591111,;TTN,splice_acceptor_variant,,ENST00000589042,;TTN,splice_acceptor_variant,,ENST00000342175,;TTN,splice_acceptor_variant,,ENST00000342992,;TTN,splice_acceptor_variant,,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586707,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000438095,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;	.	92	132	SUCCESS
HIBCH	26275	.	GRCh37	2	191077767	191077767	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	30	0	ENST00000359678.5:c.926T>G	p.Ile309Ser	p.I309S	ENST00000359678	NM_198047.2	309	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS2304.1	926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGATCTTT	NONE	.	.	hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941,Gene3D:1.10.12.10,Pfam_domain:PF13766,Superfamily_domains:SSF52096	.	.	ENSP00000352706	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000359678	Transcript	.	.	ENSG00000198130	4908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	HIBCH_HUMAN	HIBCH	HGNC	B9A058_HUMAN	.	UPI000013F16E	SNV	HIBCH,missense_variant,p.Ile309Ser,ENST00000359678,;HIBCH,missense_variant,p.Ile60Ser,ENST00000416732,;HIBCH,missense_variant,p.Ile309Ser,ENST00000392332,;HIBCH,missense_variant,p.Ile89Ser,ENST00000409820,;HIBCH,missense_variant,p.Ile86Ser,ENST00000410045,;HIBCH,non_coding_transcript_exon_variant,,ENST00000486981,;HIBCH,non_coding_transcript_exon_variant,,ENST00000489147,;	1221	30	21	SUCCESS
ADCY3	109	.	GRCh37	2	25059801	25059801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	52	97	1	ENST00000260600.5:c.1647G>T	p.Glu549Asp	p.E549D	ENST00000260600	NM_004036.3	549	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS1715.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCTCGGG	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	.	.	ENSP00000260600	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000260600	Transcript	.	.	ENSG00000138031	234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.45)	.	ADCY3_HUMAN	ADCY3	HGNC	Q8NBM1_HUMAN,C9J969_HUMAN	.	UPI000013D0ED	SNV	ADCY3,missense_variant,p.Glu549Asp,ENST00000260600,;ADCY3,missense_variant,p.Glu242Asp,ENST00000606682,;ADCY3,missense_variant,p.Glu182Asp,ENST00000405392,;ADCY3,downstream_gene_variant,,ENST00000433852,;ADCY3,downstream_gene_variant,,ENST00000435135,;ADCY3,downstream_gene_variant,,ENST00000427849,;ADCY3,non_coding_transcript_exon_variant,,ENST00000454027,;ADCY3,upstream_gene_variant,,ENST00000450524,;ADCY3,downstream_gene_variant,,ENST00000479517,;	2499	98	165	SUCCESS
CCT4	10575	.	GRCh37	2	62107453	62107453	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	29	72	0	ENST00000394440.3:c.347T>G	p.Leu116Arg	p.L116R	ENST00000394440	NM_006430.3	116	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS33206.1	347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGAGGGAG	NONE	.	.	hmmpanther:PTHR11353,Gene3D:1.10.560.10,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02342,Superfamily_domains:SSF48592,Prints_domain:PR00304	.	.	ENSP00000377958	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000394440	Transcript	.	.	ENSG00000115484	1617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TCPD_HUMAN	CCT4	HGNC	B7Z9L0_HUMAN,B7Z2F4_HUMAN	.	UPI00000362DF	SNV	CCT4,missense_variant,p.Leu116Arg,ENST00000394440,;CCT4,missense_variant,p.Leu60Arg,ENST00000538252,;CCT4,missense_variant,p.Leu86Arg,ENST00000544079,;CCT4,intron_variant,,ENST00000544185,;AC107081.5,intron_variant,,ENST00000425779,;CCT4,upstream_gene_variant,,ENST00000461540,;	644	72	105	SUCCESS
WDPCP	51057	.	GRCh37	2	63631475	63631475	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	6	71	0	ENST00000272321.7:c.1143A>G	p.Ser381=	p.S381=	ENST00000272321	NM_015910.5	381	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS42688.1	1143	MUTECT|MUSE	.	ATTAATGAAGG	NONE	.	.	hmmpanther:PTHR13667,hmmpanther:PTHR13667:SF4,Pfam_domain:PF11768,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000272321	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000272321	Transcript	.	.	ENSG00000143951	28027	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRITZ_HUMAN	WDPCP	HGNC	Q53TG5_HUMAN,Q53S85_HUMAN,Q53RX9_HUMAN,E9PFG9_HUMAN	.	UPI000013D946	SNV	WDPCP,synonymous_variant,p.%3D,ENST00000409199,;WDPCP,synonymous_variant,p.%3D,ENST00000409120,;WDPCP,synonymous_variant,p.%3D,ENST00000409562,;WDPCP,synonymous_variant,p.%3D,ENST00000398544,;WDPCP,synonymous_variant,p.%3D,ENST00000272321,;WDPCP,non_coding_transcript_exon_variant,,ENST00000409835,;WDPCP,synonymous_variant,p.%3D,ENST00000409354,;WDPCP,3_prime_UTR_variant,,ENST00000417238,;WDPCP,non_coding_transcript_exon_variant,,ENST00000493315,;	1671	71	88	SUCCESS
CEP68	23177	.	GRCh37	2	65305033	65305033	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	37	93	0	ENST00000377990.2:c.2039C>G	p.Ser680Cys	p.S680C	ENST00000377990	NM_015147.2	680	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS1880.2	2039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCTCTGA	NONE	.	.	hmmpanther:PTHR14514,Gene3D:1.20.58.60,Superfamily_domains:SSF46966	.	.	ENSP00000367229	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000377990	Transcript	.	.	ENSG00000011523	29076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.01)	.	CEP68_HUMAN	CEP68	HGNC	Q53RN6_HUMAN	.	UPI0000505465	SNV	CEP68,missense_variant,p.Ser543Cys,ENST00000260569,;CEP68,missense_variant,p.Ser680Cys,ENST00000377990,;CEP68,intron_variant,,ENST00000546106,;CEP68,downstream_gene_variant,,ENST00000537589,;RAB1A,intron_variant,,ENST00000494188,;CEP68,downstream_gene_variant,,ENST00000497039,;	2242	93	130	SUCCESS
IGKV6D-41	28869	.	GRCh37	2	90108975	90108975	+	synonymous_variant	Silent	SNP	G	G	T	rs367937370	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	497	24	337	0	ENST00000390271.2:c.240G>T	p.Ser80=	p.S80=	ENST00000390271		80	tcG/tcT	0	A:0.0003	.	.	.	.	T	S	IG_V_gene	YES	.	240	MUTECT|MUSE	.	CCCTCGAGGTT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146,PROSITE_profiles:PS50835	.	A:0	ENSP00000374806	.	2/2	.	.	.	.	.	.	.	.	rs367937370	2/2	PASS	ENST00000390271	Transcript	.	.	ENSG00000211626	5838	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	IGKV6D-41	HGNC	.	.	UPI0000116D04	SNV	IGKV6D-41,synonymous_variant,p.%3D,ENST00000390271,;	266	337	521	SUCCESS
IGKV6D-41	28869	.	GRCh37	2	90109027	90109027	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	280	18	201	0	ENST00000390271.2:c.292C>A	p.Leu98Met	p.L98M	ENST00000390271		98	Ctg/Atg	0	.	.	.	.	.	A	L/M	IG_V_gene	YES	.	292	MUTECT|MUSE	.	GTAGCCTGGAA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146,PROSITE_profiles:PS50835	.	.	ENSP00000374806	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390271	Transcript	.	.	ENSG00000211626	5838	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.368)	.	tolerated(0.15)	.	.	IGKV6D-41	HGNC	.	.	UPI0000116D04	SNV	IGKV6D-41,missense_variant,p.Leu98Met,ENST00000390271,;	318	201	298	SUCCESS
IGKV6D-41	28869	.	GRCh37	2	90109038	90109038	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	15	177	0	ENST00000390271.2:c.303A>T	p.Glu101Asp	p.E101D	ENST00000390271		101	gaA/gaT	0	.	.	.	.	.	T	E/D	IG_V_gene	YES	.	303	MUTECT|MUSE	.	GCTGAAGATGC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146,PROSITE_profiles:PS50835	.	.	ENSP00000374806	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390271	Transcript	.	.	ENSG00000211626	5838	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.547)	.	tolerated(0.18)	.	.	IGKV6D-41	HGNC	.	.	UPI0000116D04	SNV	IGKV6D-41,missense_variant,p.Glu101Asp,ENST00000390271,;	329	177	265	SUCCESS
KIAA2018	0	.	GRCh37	3	113373818	113373818	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	58	118	0	ENST00000316407.4:c.6711A>G	p.Leu2237=	p.L2237=	ENST00000316407	NM_001009899.2	2237	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS43133.1	6711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCTAGAAT	NONE	.	.	.	.	.	ENSP00000320794	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000316407	Transcript	.	.	ENSG00000176542	30494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2018_HUMAN	KIAA2018	HGNC	.	.	UPI00004800D8	SNV	KIAA2018,synonymous_variant,p.%3D,ENST00000478658,;KIAA2018,synonymous_variant,p.%3D,ENST00000316407,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	7122	118	170	SUCCESS
NDUFB4	4710	.	GRCh37	3	120315183	120315183	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	282	7	177	0	ENST00000184266.2:c.-24G>A		p.*8*	ENST00000184266	NM_004547.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2999.1	.	MUTECT|MUSE	.	CAGGCGCAATT	NONE	.	.	.	.	.	ENSP00000184266	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000184266	Transcript	.	.	ENSG00000065518	7699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUB4_HUMAN	NDUFB4	HGNC	.	.	UPI000013C5EA	SNV	NDUFB4,5_prime_UTR_variant,,ENST00000485064,;NDUFB4,5_prime_UTR_variant,,ENST00000184266,;NDUFB4,upstream_gene_variant,,ENST00000492739,;NDUFB4,upstream_gene_variant,,ENST00000461682,;NDUFB4,upstream_gene_variant,,ENST00000496588,;NDUFB4,upstream_gene_variant,,ENST00000491335,;	28	177	289	SUCCESS
GP9	2815	.	GRCh37	3	128781113	128781113	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	30	0	ENST00000307395.4:c.531T>C	p.Asp177=	p.D177=	ENST00000307395	NM_000174.3	177	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3055.1	531	MUTECT|MUSE	.	CTGGATTGAGC	NONE	.	.	.	.	.	ENSP00000303942	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000307395	Transcript	.	.	ENSG00000169704	4444	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPIX_HUMAN	GP9	HGNC	D1MER8_HUMAN	.	UPI000012B9D4	SNV	GP9,synonymous_variant,p.%3D,ENST00000307395,;	753	30	28	SUCCESS
COL6A5	256076	.	GRCh37	3	130104098	130104098	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	73	0	ENST00000312481.7:c.1752A>G	p.Ile584Met	p.I584M	ENST00000312481		584	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	.	1752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATAGAACT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000265379	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.01)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Ile584Met,ENST00000432398,;COL6A5,missense_variant,p.Ile584Met,ENST00000265379,;COL6A5,missense_variant,p.Ile584Met,ENST00000312481,;	2246	73	76	SUCCESS
ACPP	0	.	GRCh37	3	132050504	132050504	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	78	0	ENST00000351273.7:c.230A>T	p.Gln77Leu	p.Q77L	ENST00000351273	NM_001134194.1	77	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46916.1	230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCAGCATT	NONE	.	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254	.	.	ENSP00000323036	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,missense_variant,p.Gln77Leu,ENST00000351273,;ACPP,missense_variant,p.Gln77Leu,ENST00000475741,;ACPP,missense_variant,p.Gln77Leu,ENST00000336375,;ACPP,intron_variant,,ENST00000495911,;ACPP,non_coding_transcript_exon_variant,,ENST00000489084,;ACPP,non_coding_transcript_exon_variant,,ENST00000493235,;ACPP,non_coding_transcript_exon_variant,,ENST00000483689,;	280	78	77	SUCCESS
U2SURP	23350	.	GRCh37	3	142747437	142747437	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	241	74	212	0	ENST00000473835.2:c.1561del	p.Thr521GlnfsTer5	p.T521Qfs*5	ENST00000473835	NM_001080415.1	520	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS46928.1	1559	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAAGAAACAG	NONE	.	.	hmmpanther:PTHR23140	.	.	ENSP00000418563	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000473835	Transcript	.	.	ENSG00000163714	30855	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SR140_HUMAN	U2SURP	HGNC	C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN	.	UPI0000160746	deletion	U2SURP,frameshift_variant,p.Thr521GlnfsTer5,ENST00000473835,;U2SURP,frameshift_variant,p.Thr88GlnfsTer5,ENST00000480029,;U2SURP,frameshift_variant,p.Thr112GlnfsTer5,ENST00000397933,;U2SURP,frameshift_variant,p.Thr520GlnfsTer5,ENST00000493598,;U2SURP,3_prime_UTR_variant,,ENST00000488497,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,non_coding_transcript_exon_variant,,ENST00000472373,;U2SURP,downstream_gene_variant,,ENST00000488587,;	1649	212	315	SUCCESS
CACNA2D3	55799	.	GRCh37	3	55108222	55108222	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	8	104	0	ENST00000288197.5:c.3265T>G	p.Phe1089Val	p.F1089V	ENST00000288197		1089	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS54598.1	3265	MUTECT|MUSE	.	TGCTCTTCTCA	NONE	.	.	hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	.	.	ENSP00000419101	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.587)	.	tolerated(0.53)	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	SNV	CACNA2D3,missense_variant,p.Phe1089Val,ENST00000474759,;CACNA2D3,missense_variant,p.Phe1089Val,ENST00000415676,;CACNA2D3,missense_variant,p.Phe995Val,ENST00000490478,;CACNA2D3,missense_variant,p.Phe1089Val,ENST00000288197,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000478261,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000471865,;	3313	104	186	SUCCESS
SH3RF1	57630	.	GRCh37	4	170077556	170077556	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	79	164	0	ENST00000284637.9:c.668A>C	p.Lys223Thr	p.K223T	ENST00000284637	NM_020870.3	223	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS34099.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTTTGCA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661:SF8,hmmpanther:PTHR10661,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000284637	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000284637	Transcript	.	.	ENSG00000154447	17650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SH3R1_HUMAN	SH3RF1	HGNC	D6RHX5_HUMAN,D6RAL3_HUMAN	.	UPI0000160033	SNV	SH3RF1,missense_variant,p.Lys223Thr,ENST00000284637,;SH3RF1,splice_region_variant,,ENST00000508685,;SH3RF1,missense_variant,p.Lys85Thr,ENST00000511421,;	1010	164	225	SUCCESS
ADAM29	11086	.	GRCh37	4	175897719	175897719	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201308805	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	11	143	0	ENST00000359240.3:c.1043G>A	p.Arg348His	p.R348H	ENST00000359240	NM_014269.4	348	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS3823.1	1043	MUTECT|MUSE	.	ATGTCGTTGTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	A:0.0002	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	rs201308805,COSM3337001	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.157)	.	tolerated(0.06)	0,1	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Arg348His,ENST00000514159,;ADAM29,missense_variant,p.Arg348His,ENST00000445694,;ADAM29,missense_variant,p.Arg348His,ENST00000404450,;ADAM29,missense_variant,p.Arg348His,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	1713	143	165	SUCCESS
ADAM29	11086	.	GRCh37	4	175898784	175898784	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	57	0	ENST00000359240.3:c.2108C>G	p.Pro703Arg	p.P703R	ENST00000359240	NM_014269.4	703	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS3823.1	2108	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACCAATAA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.51)	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Pro703Arg,ENST00000514159,;ADAM29,missense_variant,p.Pro703Arg,ENST00000445694,;ADAM29,missense_variant,p.Pro703Arg,ENST00000404450,;ADAM29,missense_variant,p.Pro703Arg,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,non_coding_transcript_exon_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	2778	57	51	SUCCESS
TXK	7294	.	GRCh37	4	48073678	48073678	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	23	0	ENST00000264316.4:c.1371G>T	p.Trp457Cys	p.W457C	ENST00000264316	NM_003328.2	457	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS3480.1	1371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCCACAT	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159,PROSITE_profiles:PS50011	.	.	ENSP00000264316	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000264316	Transcript	.	.	ENSG00000074966	12434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TXK_HUMAN	TXK	HGNC	Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN	.	UPI000013D4F9	SNV	TXK,missense_variant,p.Trp457Cys,ENST00000264316,;TXK,missense_variant,p.Trp112Cys,ENST00000507351,;TXK,stop_gained,p.Gly73Ter,ENST00000514937,;TXK,3_prime_UTR_variant,,ENST00000509681,;	1457	23	41	SUCCESS
CWH43	80157	.	GRCh37	4	49046853	49046853	+	synonymous_variant	Silent	SNP	A	A	G	rs1465383784	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	75	0	ENST00000226432.4:c.1854A>G	p.Arg618=	p.R618=	ENST00000226432	NM_025087.2	618	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS3486.1	1854	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCGAGGGCT	NONE	.	.	hmmpanther:PTHR14859:SF0,hmmpanther:PTHR14859,Superfamily_domains:SSF56219	.	.	ENSP00000226432	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000226432	Transcript	.	.	ENSG00000109182	26133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PG2IP_HUMAN	CWH43	HGNC	E7EQL2_HUMAN,D6RDZ8_HUMAN	.	UPI000020BC89	SNV	CWH43,synonymous_variant,p.%3D,ENST00000513409,;CWH43,synonymous_variant,p.%3D,ENST00000226432,;CWH43,3_prime_UTR_variant,,ENST00000514053,;	2037	75	83	SUCCESS
KIAA0232	9778	.	GRCh37	4	6864199	6864199	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	76	171	0	ENST00000307659.5:c.2090T>A	p.Phe697Tyr	p.F697Y	ENST00000307659	NM_014743.2	697	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS43209.1	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTTTGAAG	NONE	.	.	hmmpanther:PTHR17611,Pfam_domain:PF15376	.	.	ENSP00000303928	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000307659	Transcript	.	.	ENSG00000170871	28992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	K0232_HUMAN	KIAA0232	HGNC	D6REK0_HUMAN	.	UPI000013EC3F	SNV	KIAA0232,missense_variant,p.Phe697Tyr,ENST00000307659,;KIAA0232,missense_variant,p.Phe697Tyr,ENST00000425103,;KIAA0232,downstream_gene_variant,,ENST00000503069,;	2545	171	220	SUCCESS
ALB	213	.	GRCh37	4	74281995	74281995	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	122	1	ENST00000295897.4:c.1214T>C	p.Val405Ala	p.V405A	ENST00000295897	NM_000477.5	405	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3555.1	1214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGTGGAAG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	deleterious(0.04)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Val405Ala,ENST00000509063,;ALB,missense_variant,p.Val250Ala,ENST00000511370,;ALB,missense_variant,p.Val213Ala,ENST00000415165,;ALB,missense_variant,p.Val405Ala,ENST00000295897,;ALB,missense_variant,p.Val255Ala,ENST00000503124,;ALB,missense_variant,p.Val290Ala,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,downstream_gene_variant,,ENST00000504043,;	1303	123	118	SUCCESS
SLCO4C1	353189	.	GRCh37	5	101632013	101632013	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs753938641	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	29	0	ENST00000310954.6:c.-47T>C		p.*16*	ENST00000310954	NM_180991.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34205.1	.	MUTECT|MUSE	.	GAGCCAGGTCC	NONE	byFrequency	.	.	.	.	ENSP00000309741	.	1/13	.	.	.	.	.	.	.	.	rs753938641	1/13	PASS	ENST00000310954	Transcript	.	.	ENSG00000173930	23612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SO4C1_HUMAN	SLCO4C1	HGNC	Q63HP3_HUMAN	.	UPI00001C10B6	SNV	SLCO4C1,5_prime_UTR_variant,,ENST00000310954,;	241	29	36	SUCCESS
KCTD16	57528	.	GRCh37	5	143853624	143853624	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	80	0	ENST00000507359.3:c.1234C>T	p.Pro412Ser	p.P412S	ENST00000507359	NM_020768.3	412	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS34260.1	1234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCCTGAG	NONE	.	.	hmmpanther:PTHR14499:SF28,hmmpanther:PTHR14499	.	.	ENSP00000426548	.	3/3	.	.	.	.	.	.	.	.	COSM3611894	3/3	PASS	ENST00000507359	Transcript	.	.	ENSG00000183775	29244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	KCD16_HUMAN	KCTD16	HGNC	.	.	UPI000004A046	SNV	KCTD16,missense_variant,p.Pro412Ser,ENST00000507359,;KCTD16,missense_variant,p.Pro412Ser,ENST00000512467,;	2325	80	79	SUCCESS
NSD1	64324	.	GRCh37	5	176721088	176721088	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	76	0	ENST00000439151.2:c.6719C>A	p.Ser2240Ter	p.S2240*	ENST00000439151	NM_022455.4	2240	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS4412.1	6719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATCAACAG	NONE	.	.	.	.	.	ENSP00000395929	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,stop_gained,p.Ser2137Ter,ENST00000361032,;NSD1,stop_gained,p.Ser1971Ter,ENST00000354179,;NSD1,stop_gained,p.Ser2240Ter,ENST00000439151,;NSD1,stop_gained,p.Ser1971Ter,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000513736,;	6764	76	83	SUCCESS
RXFP3	51289	.	GRCh37	5	33938060	33938060	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	41	68	0	ENST00000330120.3:c.1215G>A	p.Trp405Ter	p.W405*	ENST00000330120	NM_016568.3	405	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS3900.1	1215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGCGCAT	BUFFER|p.I407I|c.1221C>T|3	.	.	hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF48,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000328708	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330120	Transcript	.	.	ENSG00000182631	24883	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL3R1_HUMAN	RXFP3	HGNC	.	.	UPI0000046AEB	SNV	RXFP3,stop_gained,p.Trp405Ter,ENST00000330120,;	1570	68	102	SUCCESS
ISL1	3670	.	GRCh37	5	50685666	50685666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	76	136	0	ENST00000230658.7:c.665C>A	p.Pro222His	p.P222H	ENST00000230658	NM_002202.2	222	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS43314.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCCCCGTG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24204,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000230658	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000230658	Transcript	1	.	ENSG00000016082	6132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	ISL1_HUMAN	ISL1	HGNC	.	.	UPI0000023E3A	SNV	ISL1,missense_variant,p.Pro222His,ENST00000511384,;ISL1,missense_variant,p.Pro222His,ENST00000230658,;ISL1,non_coding_transcript_exon_variant,,ENST00000505475,;	1250	136	232	SUCCESS
MTRR	4552	.	GRCh37	5	7892874	7892874	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	12	135	0	ENST00000264668.2:c.1486G>C	p.Val496Leu	p.V496L	ENST00000264668	NM_024010.2	496	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS3874.1	1486	MUTECT|MUSE	.	ATTTTGTCTTC	NONE	.	.	PROSITE_profiles:PS51384,hmmpanther:PTHR19384:SF65,hmmpanther:PTHR19384,Gene3D:2.40.30.10,Pfam_domain:PF00667,Superfamily_domains:SSF63380	.	.	ENSP00000264668	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000264668	Transcript	1	.	ENSG00000124275	7473	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.301)	.	deleterious(0.04)	.	MTRR_HUMAN	MTRR	HGNC	D6RIS8_HUMAN,D6RGC7_HUMAN,D6RAZ2_HUMAN	.	UPI000013D550	SNV	MTRR,missense_variant,p.Val469Leu,ENST00000440940,;MTRR,missense_variant,p.Val496Leu,ENST00000264668,;MTRR,downstream_gene_variant,,ENST00000341013,;MTRR,non_coding_transcript_exon_variant,,ENST00000507414,;MTRR,downstream_gene_variant,,ENST00000509961,;MTRR,downstream_gene_variant,,ENST00000508101,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,3_prime_UTR_variant,,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,non_coding_transcript_exon_variant,,ENST00000512311,;MTRR,non_coding_transcript_exon_variant,,ENST00000507202,;MTRR,upstream_gene_variant,,ENST00000508354,;	1516	135	188	SUCCESS
EPB41L2	2037	.	GRCh37	6	131179313	131179313	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	63	132	0	ENST00000337057.3:c.2981A>G	p.His994Arg	p.H994R	ENST00000337057	NM_001431.3	994	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS5141.1	2981	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTGTACC	NONE	.	.	hmmpanther:PTHR23280:SF17,hmmpanther:PTHR23280,Pfam_domain:PF05902,PIRSF_domain:PIRSF002304	.	.	ENSP00000338481	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000337057	Transcript	.	.	ENSG00000079819	3379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	E41L2_HUMAN	EPB41L2	HGNC	E9PRG1_HUMAN,E9PQN0_HUMAN,E9PQD2_HUMAN,E9PJP4_HUMAN,E9PIG0_HUMAN	.	UPI0000129AF9	SNV	EPB41L2,missense_variant,p.His695Arg,ENST00000525193,;EPB41L2,missense_variant,p.His800Arg,ENST00000527659,;EPB41L2,missense_variant,p.His372Arg,ENST00000524581,;EPB41L2,missense_variant,p.His662Arg,ENST00000392427,;EPB41L2,missense_variant,p.His736Arg,ENST00000445890,;EPB41L2,missense_variant,p.His736Arg,ENST00000528282,;EPB41L2,missense_variant,p.His841Arg,ENST00000530481,;EPB41L2,missense_variant,p.His994Arg,ENST00000337057,;EPB41L2,missense_variant,p.His115Arg,ENST00000531410,;EPB41L2,missense_variant,p.His190Arg,ENST00000530757,;EPB41L2,missense_variant,p.His924Arg,ENST00000529208,;EPB41L2,missense_variant,p.His994Arg,ENST00000368128,;EPB41L2,missense_variant,p.His662Arg,ENST00000525271,;EPB41L2,missense_variant,p.His924Arg,ENST00000527411,;EPB41L2,downstream_gene_variant,,ENST00000527017,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000368126,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000526782,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000452150,;	3163	132	173	SUCCESS
PLG	5340	.	GRCh37	6	161139737	161139737	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	20	160	0	ENST00000308192.9:c.963A>G	p.Glu321=	p.E321=	ENST00000308192	NM_000301.3	321	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS5279.1	963	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAAAACTA	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,PIRSF_domain:PIRSF001150,Superfamily_domains:SSF57440	.	.	ENSP00000308938	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000308192	Transcript	.	.	ENSG00000122194	9071	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLMN_HUMAN	PLG	HGNC	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN	.	UPI000000D8B8	SNV	PLG,synonymous_variant,p.%3D,ENST00000308192,;PLG,intron_variant,,ENST00000297289,;	1026	160	201	SUCCESS
TRIM15	89870	.	GRCh37	6	30138285	30138285	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	59	0	ENST00000376694.4:c.739A>C	p.Met247Leu	p.M247L	ENST00000376694	NM_033229.2	247	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS4677.1	739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGATGAAG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF259	.	.	ENSP00000365884	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000376694	Transcript	.	.	ENSG00000204610	16284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.15)	.	TRI15_HUMAN	TRIM15	HGNC	Q5SRL0_HUMAN	.	UPI0000137066	SNV	TRIM15,missense_variant,p.Met84Leu,ENST00000433744,;TRIM15,missense_variant,p.Met247Leu,ENST00000376694,;TRIM15,intron_variant,,ENST00000376688,;TRIM15,non_coding_transcript_exon_variant,,ENST00000477944,;	1208	59	98	SUCCESS
FAM46A	0	.	GRCh37	6	82459698	82459698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	42	134	0	ENST00000320172.6:c.1043A>G	p.Glu348Gly	p.E348G	ENST00000320172	NM_017633.2	348	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS34489.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTTCCAAT	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF25	.	.	ENSP00000318298	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000320172	Transcript	.	.	ENSG00000112773	18345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	tolerated(0.06)	.	FA46A_HUMAN	FAM46A	HGNC	.	.	UPI000006E9BA	SNV	FAM46A,missense_variant,p.Glu367Gly,ENST00000369754,;FAM46A,missense_variant,p.Glu348Gly,ENST00000320172,;FAM46A,missense_variant,p.Glu429Gly,ENST00000369756,;FAM46A,synonymous_variant,p.%3D,ENST00000423467,;FAM46A,intron_variant,,ENST00000412306,;	1358	134	151	SUCCESS
SLC26A4	5172	.	GRCh37	7	107342429	107342429	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	74	185	0	ENST00000265715.3:c.1961C>T	p.Pro654Leu	p.P654L	ENST00000265715	NM_000441.1	654	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5746.1	1961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCAATCC	BUFFER|p.V650V|c.1950T>C|4	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF33,hmmpanther:PTHR11814,Pfam_domain:PF01740,TIGRFAM_domain:TIGR00815,Superfamily_domains:SSF52091	.	.	ENSP00000265715	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	tolerated(0.06)	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,missense_variant,p.Pro241Leu,ENST00000544569,;SLC26A4,missense_variant,p.Pro654Leu,ENST00000265715,;SLC26A4,missense_variant,p.Pro223Leu,ENST00000543100,;SLC26A4,missense_variant,p.Pro215Leu,ENST00000541474,;SLC26A4,non_coding_transcript_exon_variant,,ENST00000492030,;SLC26A4,downstream_gene_variant,,ENST00000480841,;SLC26A4,downstream_gene_variant,,ENST00000477350,;	2185	185	232	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121653216	121653216	+	synonymous_variant	Silent	SNP	G	G	C	rs754522701	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	58	181	0	ENST00000393386.2:c.4116G>C	p.Gly1372=	p.G1372=	ENST00000393386	NM_001206838.1	1372	ggG/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS34740.1	4116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGCATGT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	.	.	ENSP00000377047	.	12/30	.	.	.	.	.	.	.	.	rs754522701	12/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,synonymous_variant,p.%3D,ENST00000393386,;PTPRZ1,intron_variant,,ENST00000449182,;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000483028,;	4527	181	216	SUCCESS
WDR86	349136	.	GRCh37	7	151093228	151093228	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	47	0	ENST00000334493.6:c.360G>C	p.Arg120=	p.R120=	ENST00000334493	NM_198285.2	120	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS5925.2	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCCGAGC	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22844:SF166,hmmpanther:PTHR22844,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000335522	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000334493	Transcript	.	.	ENSG00000187260	28020	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR86_HUMAN	WDR86	HGNC	.	.	UPI000020F353	SNV	WDR86,synonymous_variant,p.%3D,ENST00000334493,;WDR86,synonymous_variant,p.%3D,ENST00000469830,;WDR86,5_prime_UTR_variant,,ENST00000477459,;WDR86,upstream_gene_variant,,ENST00000463000,;	791	47	71	SUCCESS
MAD1L1	8379	.	GRCh37	7	1887376	1887376	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	62	0	ENST00000265854.7:c.1999-31512G>T		p.*667*	ENST00000265854		207		0	.	.	.	.	.	A	P	protein_coding	YES	.	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGGGAC	NONE	.	.	.	.	.	ENSP00000385502	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000402221	Transcript	.	.	ENSG00000176349	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC110781.3	Clone_based_vega_gene	Q8N997_HUMAN,E9PF64_HUMAN	.	UPI000173A1E7	SNV	AC110781.3,synonymous_variant,p.%3D,ENST00000402221,;AC110781.3,synonymous_variant,p.%3D,ENST00000318959,;MAD1L1,intron_variant,,ENST00000402746,;MAD1L1,intron_variant,,ENST00000399654,;MAD1L1,intron_variant,,ENST00000406869,;MAD1L1,intron_variant,,ENST00000265854,;MAD1L1,intron_variant,,ENST00000450235,;MIR4655,upstream_gene_variant,,ENST00000580817,;AC110781.3,non_coding_transcript_exon_variant,,ENST00000480694,;MAD1L1,intron_variant,,ENST00000481633,;	776	62	84	SUCCESS
BBS9	27241	.	GRCh37	7	33397473	33397473	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769669385	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	35	0	ENST00000242067.6:c.1559C>T	p.Pro520Leu	p.P520L	ENST00000242067	NM_198428.2	520	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43566.1	1559	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCGCGAG	NONE	byFrequency|byCluster	.	Pfam_domain:PF14728,hmmpanther:PTHR20991:SF0,hmmpanther:PTHR20991	.	.	ENSP00000242067	.	16/23	.	.	.	.	.	.	.	.	rs769669385	16/23	PASS	ENST00000242067	Transcript	.	.	ENSG00000122507	30000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	deleterious(0)	.	PTHB1_HUMAN	BBS9	HGNC	C9JRR5_HUMAN,C9JJ08_HUMAN	.	UPI000020ED57	SNV	BBS9,missense_variant,p.Pro485Leu,ENST00000396127,;BBS9,missense_variant,p.Pro520Leu,ENST00000242067,;BBS9,missense_variant,p.Pro515Leu,ENST00000355070,;BBS9,missense_variant,p.Pro87Leu,ENST00000434373,;BBS9,missense_variant,p.Pro485Leu,ENST00000354265,;BBS9,missense_variant,p.Pro480Leu,ENST00000350941,;BBS9,3_prime_UTR_variant,,ENST00000433714,;	2080	35	40	SUCCESS
SDK1	221935	.	GRCh37	7	3658865	3658865	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762716721	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	42	84	0	ENST00000404826.2:c.452A>T	p.Glu151Val	p.E151V	ENST00000404826	NM_152744.3	151	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34590.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGAATATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	2/45	.	.	.	.	.	.	.	.	rs762716721	2/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.06)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Glu151Val,ENST00000404826,;SDK1,missense_variant,p.Glu151Val,ENST00000389531,;	591	84	140	SUCCESS
ZMIZ2	83637	.	GRCh37	7	44797559	44797559	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	79	0	ENST00000309315.4:c.665C>G	p.Ser222Cys	p.S222C	ENST00000309315	NM_031449.3	222	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS43576.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTCTGGCC	NONE	.	.	hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF38	.	.	ENSP00000311778	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000309315	Transcript	.	.	ENSG00000122515	22229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	deleterious(0.01)	.	ZMIZ2_HUMAN	ZMIZ2	HGNC	C9JDA5_HUMAN,B3KR25_HUMAN	.	UPI00001D747B	SNV	ZMIZ2,missense_variant,p.Ser222Cys,ENST00000265346,;ZMIZ2,missense_variant,p.Ser190Cys,ENST00000433667,;ZMIZ2,missense_variant,p.Ser190Cys,ENST00000413916,;ZMIZ2,missense_variant,p.Ser222Cys,ENST00000441627,;ZMIZ2,missense_variant,p.Ser222Cys,ENST00000309315,;ZMIZ2,downstream_gene_variant,,ENST00000457123,;ZMIZ2,upstream_gene_variant,,ENST00000463056,;ZMIZ2,upstream_gene_variant,,ENST00000480964,;ZMIZ2,downstream_gene_variant,,ENST00000492001,;ZMIZ2,upstream_gene_variant,,ENST00000478045,;ZMIZ2,downstream_gene_variant,,ENST00000416856,;	788	79	108	SUCCESS
TONSL	4796	.	GRCh37	8	145668658	145668658	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777239143	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	57	100	0	ENST00000409379.3:c.311C>A	p.Thr104Lys	p.T104K	ENST00000409379	NM_013432.4	104	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS34968.2	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTGTGG	CODON|p.T104M|c.311C>T|3	.	.	hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000386239	.	4/26	.	.	.	.	.	.	.	.	rs777239143,COSM158742	4/26	PASS	ENST00000409379	Transcript	.	.	ENSG00000160949	7801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.7)	.	deleterious(0.04)	0,1	TONSL_HUMAN	TONSL	HGNC	.	.	UPI0000424A3B	SNV	TONSL,missense_variant,p.Thr104Lys,ENST00000409379,;AC084125.4,downstream_gene_variant,,ENST00000442850,;TONSL,upstream_gene_variant,,ENST00000497613,;	341	100	184	SUCCESS
ESRP1	54845	.	GRCh37	8	95677274	95677274	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	264	72	221	0	ENST00000433389.2:c.877del	p.Arg293GlyfsTer24	p.R293Gfs*24	ENST00000433389	NM_001034915.2	292	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS47897.1	875	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGGACCCGGT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF14259,Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,PROSITE_profiles:PS50102	.	.	ENSP00000405738	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	deletion	ESRP1,frameshift_variant,p.Arg293GlyfsTer24,ENST00000433389,;ESRP1,frameshift_variant,p.Arg76GlyfsTer?,ENST00000522756,;ESRP1,frameshift_variant,p.Arg159GlyfsTer24,ENST00000519505,;ESRP1,frameshift_variant,p.Arg152GlyfsTer24,ENST00000517610,;ESRP1,frameshift_variant,p.Arg293GlyfsTer24,ENST00000454170,;ESRP1,frameshift_variant,p.Arg293GlyfsTer24,ENST00000423620,;ESRP1,frameshift_variant,p.Arg293GlyfsTer24,ENST00000358397,;ESRP1,downstream_gene_variant,,ENST00000520385,;ESRP1,upstream_gene_variant,,ENST00000517556,;	1065	221	336	SUCCESS
SDC2	6383	.	GRCh37	8	97621749	97621749	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	36	68	1	ENST00000302190.4:c.579G>A	p.Lys193=	p.K193=	ENST00000302190	NM_002998.3	193	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS6272.1	579	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGAAGGCACC	NONE	.	.	hmmpanther:PTHR10915:SF6,hmmpanther:PTHR10915,Pfam_domain:PF01034	.	.	ENSP00000307046	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000302190	Transcript	.	.	ENSG00000169439	10659	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SDC2_HUMAN	SDC2	HGNC	E5RJB8_HUMAN,E9PBI9_HUMAN,E5RHU3_HUMAN,B4DT61_HUMAN	.	UPI000013E7A4	SNV	SDC2,synonymous_variant,p.%3D,ENST00000522911,;SDC2,synonymous_variant,p.%3D,ENST00000302190,;SDC2,synonymous_variant,p.%3D,ENST00000518385,;SDC2,synonymous_variant,p.%3D,ENST00000519914,;SDC2,downstream_gene_variant,,ENST00000521590,;SDC2,downstream_gene_variant,,ENST00000523877,;	1500	70	128	SUCCESS
CCDC180	100499483	.	GRCh37	9	100000854	100000854	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	94	0	ENST00000375202.2:c.-1282+5G>T		p.X428_splice	ENST00000375202		428		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35077.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGTGTTT	NONE	.	.	.	.	.	ENSP00000364348	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	LOW	1/50	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,splice_region_variant,,ENST00000357054,;CCDC180,splice_region_variant,,ENST00000375202,;CCDC180,splice_region_variant,,ENST00000375205,;CCDC180,splice_region_variant,,ENST00000395220,;CCDC180,splice_region_variant,,ENST00000411667,;RP11-498P14.5,non_coding_transcript_exon_variant,,ENST00000607322,;RP11-498P14.5,non_coding_transcript_exon_variant,,ENST00000366109,;RP11-498P14.4,downstream_gene_variant,,ENST00000420204,;RP11-23J9.4,splice_region_variant,,ENST00000375206,;RP11-23J9.5,splice_region_variant,,ENST00000375204,;RP11-23J9.5,splice_region_variant,,ENST00000527128,;RP11-23J9.6,upstream_gene_variant,,ENST00000532209,;	.	94	94	SUCCESS
FAM73B	0	.	GRCh37	9	131810739	131810739	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1482165331	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	7	128	0	ENST00000358369.4:c.341G>C	p.Ser114Thr	p.S114T	ENST00000358369	NM_032809.2	114	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS6917.1	341	MUTECT|MUSE	.	CAGCAGCAAGA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF10265,hmmpanther:PTHR21508,hmmpanther:PTHR21508:SF2	.	.	ENSP00000351138	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000358369	Transcript	.	.	ENSG00000148343	23621	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.24)	.	FA73B_HUMAN	FAM73B	HGNC	B0QZG3_HUMAN	.	UPI00001B4EFD	SNV	FAM73B,missense_variant,p.Ser114Thr,ENST00000277475,;FAM73B,missense_variant,p.Ser114Thr,ENST00000406926,;FAM73B,missense_variant,p.Ser114Thr,ENST00000358369,;FAM73B,downstream_gene_variant,,ENST00000474534,;FAM73B,missense_variant,p.Ser114Thr,ENST00000445183,;FAM73B,missense_variant,p.Ser114Thr,ENST00000439290,;	567	128	208	SUCCESS
IFNA16	3449	.	GRCh37	9	21216801	21216801	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs148820316	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	8	150	0	ENST00000380216.1:c.504A>T	p.Arg168Ser	p.R168S	ENST00000380216	NM_002173.2	168	agA/agT	0	C:0	.	.	.	.	A	R/S	protein_coding	YES	CCDS34996.1	504	MUTECT|MUSE	.	TCTGCTCTGAC	NONE	byCluster	.	hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,Pfam_domain:PF00143,Gene3D:1.20.1250.10,SMART_domains:SM00076,Superfamily_domains:SSF47266,Prints_domain:PR00266	.	C:0.0001	ENSP00000369564	.	1/1	.	.	.	.	.	.	.	.	rs148820316	1/1	PASS	ENST00000380216	Transcript	.	.	ENSG00000147885	5421	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.858)	.	deleterious(0.01)	.	IFN16_HUMAN	IFNA16	HGNC	Q9UMJ2_HUMAN	.	UPI0000047763	SNV	IFNA16,missense_variant,p.Arg168Ser,ENST00000380216,;	510	150	206	SUCCESS
DMRTA1	63951	.	GRCh37	9	22447695	22447695	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs558506579	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	37	111	0	ENST00000325870.2:c.631G>T	p.Glu211Ter	p.E211*	ENST00000325870	NM_022160.2	211	Gaa/Taa	0	.	A:0	.	A:0	.	T	E/*	protein_coding	YES	CCDS6514.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCGAAGTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF13	A:0	.	ENSP00000319651	A:0	1/2	.	.	.	.	.	.	.	.	rs558506579	1/2	PASS	ENST00000325870	Transcript	.	A:0.0002	ENSG00000176399	13826	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	DMRTA_HUMAN	DMRTA1	HGNC	.	.	UPI000014178A	SNV	DMRTA1,stop_gained,p.Glu211Ter,ENST00000325870,;	856	111	124	SUCCESS
FAM166B	730112	.	GRCh37	9	35563264	35563264	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	46	122	0	ENST00000399742.2:c.185C>T	p.Pro62Leu	p.P62L	ENST00000399742	NM_001164310.1	62	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS56572.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGGCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF3	.	.	ENSP00000382646	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000399742	Transcript	.	.	ENSG00000215187	34242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.1)	.	F166B_HUMAN	FAM166B	HGNC	.	.	UPI0000160C8C	SNV	FAM166B,missense_variant,p.Pro62Leu,ENST00000399742,;RUSC2,downstream_gene_variant,,ENST00000361226,;RUSC2,downstream_gene_variant,,ENST00000455600,;FAM166B,non_coding_transcript_exon_variant,,ENST00000492890,;FAM166B,upstream_gene_variant,,ENST00000478246,;FAM166B,upstream_gene_variant,,ENST00000480287,;FAM166B,missense_variant,p.Pro62Leu,ENST00000447837,;	256	122	162	SUCCESS
TJP2	9414	.	GRCh37	9	71840272	71840272	+	synonymous_variant	Silent	SNP	G	G	T	rs140444730	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	85	0	ENST00000377245.4:c.1005G>T	p.Thr335=	p.T335=	ENST00000377245	NM_004817.3	335	acG/acT	0	A:0	A:0	.	A:0	.	T	T	protein_coding	YES	CCDS55316.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACGGGTCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50106,hmmpanther:PTHR13865:SF26,hmmpanther:PTHR13865,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	A:0.001	A:0.0001	ENSP00000438262	A:0	6/23	.	.	.	.	.	.	.	.	rs140444730	6/23	PASS	ENST00000539225	Transcript	.	A:0.0002	ENSG00000119139	11828	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZO2_HUMAN	TJP2	HGNC	U3KQJ2_HUMAN,B1AN86_HUMAN	.	UPI0001C0B37F	SNV	TJP2,synonymous_variant,p.%3D,ENST00000535702,;TJP2,synonymous_variant,p.%3D,ENST00000348208,;TJP2,synonymous_variant,p.%3D,ENST00000453658,;TJP2,synonymous_variant,p.%3D,ENST00000539225,;TJP2,synonymous_variant,p.%3D,ENST00000265384,;TJP2,synonymous_variant,p.%3D,ENST00000377245,;TJP2,downstream_gene_variant,,ENST00000423935,;TJP2,downstream_gene_variant,,ENST00000606364,;	1098	85	104	SUCCESS
WNK2	65268	.	GRCh37	9	96080257	96080257	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149156267	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	63	0	ENST00000297954.4:c.6842G>T	p.Arg2281Leu	p.R2281L	ENST00000297954	NM_001282394.1	2281	cGg/cTg	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	.	6842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGGTGG	NONE	byFrequency|by1000G	.	.	A:0.001	.	ENSP00000297954	A:0.001	30/30	.	.	.	.	.	.	.	.	rs149156267	30/30	PASS	ENST00000297954	Transcript	.	A:0.0004	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Arg2281Leu,ENST00000297954,;WNK2,3_prime_UTR_variant,,ENST00000411624,;WNK2,intron_variant,,ENST00000427277,;WNK2,intron_variant,,ENST00000349097,;WNK2,intron_variant,,ENST00000432730,;WNK2,intron_variant,,ENST00000395475,;WNK2,intron_variant,,ENST00000356055,;WNK2,intron_variant,,ENST00000448251,;WNK2,intron_variant,,ENST00000395477,;C9orf129,downstream_gene_variant,,ENST00000375419,;WNK2,intron_variant,,ENST00000471076,;WNK2,intron_variant,,ENST00000467401,;	6842	63	99	SUCCESS
SLITRK2	84631	.	GRCh37	X	144905414	144905414	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	34	35	0	ENST00000370490.1:c.1471T>A	p.Phe491Ile	p.F491I	ENST00000370490		491	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS14680.1	1471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATTTGGG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Phe491Ile,ENST00000370490,;SLITRK2,missense_variant,p.Phe491Ile,ENST00000434188,;SLITRK2,missense_variant,p.Phe491Ile,ENST00000428560,;SLITRK2,missense_variant,p.Phe491Ile,ENST00000413937,;SLITRK2,missense_variant,p.Phe491Ile,ENST00000447897,;SLITRK2,missense_variant,p.Phe491Ile,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	5726	35	108	SUCCESS
GABRQ	55879	.	GRCh37	X	151818957	151818957	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	245	151	135	0	ENST00000370306.2:c.815T>C	p.Val272Ala	p.V272A	ENST00000370306	NM_018558.3	272	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS14707.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGTCTACT	NONE	.	.	Prints_domain:PR00253,Superfamily_domains:SSF90112,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87,Transmembrane_helices:TMhelix	.	.	ENSP00000359329	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.814)	.	deleterious(0.04)	.	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,missense_variant,p.Val272Ala,ENST00000370306,;	835	135	396	SUCCESS
CHDC2	0	.	GRCh37	X	36103589	36103589	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	46	53	0	ENST00000313548.4:c.575T>C	p.Val192Ala	p.V192A	ENST00000313548	NM_173695.2	192	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS14238.1	575	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCTGTAGATA	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4	.	.	ENSP00000324767	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000313548	Transcript	.	.	ENSG00000176034	26708	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.19)	.	CHDC2_HUMAN	CHDC2	HGNC	.	.	UPI000006F5CD	SNV	CHDC2,missense_variant,p.Val192Ala,ENST00000313548,;CHDC2,missense_variant,p.Val368Ala,ENST00000378660,;	761	53	60	SUCCESS
KDM5C	8242	.	GRCh37	X	53228047	53228047	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	141	135	0	ENST00000375401.3:c.2267T>A	p.Leu756His	p.L756H	ENST00000375401	NM_004187.3	756	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS14351.1	2267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAGCTCA	NONE	.	.	hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,Pfam_domain:PF02928	.	.	ENSP00000364550	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000375401	Transcript	.	.	ENSG00000126012	11114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	KDM5C_HUMAN	KDM5C	HGNC	.	.	UPI000013CBE3	SNV	KDM5C,missense_variant,p.Leu689His,ENST00000452825,;KDM5C,missense_variant,p.Leu756His,ENST00000375379,;KDM5C,missense_variant,p.Leu755His,ENST00000404049,;KDM5C,missense_variant,p.Leu715His,ENST00000375383,;KDM5C,missense_variant,p.Leu756His,ENST00000375401,;KDM5C,upstream_gene_variant,,ENST00000477109,;KDM5C,downstream_gene_variant,,ENST00000465402,;KDM5C,non_coding_transcript_exon_variant,,ENST00000497100,;KDM5C,downstream_gene_variant,,ENST00000481369,;	2800	135	226	SUCCESS
DLG3	1741	.	GRCh37	X	69672476	69672476	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	65	1	ENST00000374360.3:c.1145+600A>G		p.*382*	ENST00000374360	NM_021120.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14403.1	.	SOMATICSNIPER|MUTECT|VARSCANS	.	TATGGAGAGGG	NONE	.	.	.	.	.	ENSP00000363480	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374360	Transcript	.	.	ENSG00000082458	2902	.	.	MODIFIER	7/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,missense_variant,p.Glu2Gly,ENST00000374355,;DLG3,intron_variant,,ENST00000194900,;DLG3,intron_variant,,ENST00000374360,;DLG3,upstream_gene_variant,,ENST00000542398,;RNU4-81P,downstream_gene_variant,,ENST00000363561,;DLG3-AS1,downstream_gene_variant,,ENST00000431103,;DLG3-AS1,downstream_gene_variant,,ENST00000424211,;DLG3,upstream_gene_variant,,ENST00000489733,;DLG3,upstream_gene_variant,,ENST00000494493,;DLG3,intron_variant,,ENST00000463252,;	.	66	82	SUCCESS
MIR374B	100126317	.	GRCh37	X	73438407	73438407	+	mature_miRNA_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	93	60	0	ENST00000390738.1:n.47A>C		p.*16*	ENST00000390738				0	.	.	.	.	.	G	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCTGCTAA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390738	Transcript	.	.	ENSG00000212027	33665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR374B	HGNC	.	.	.	SNV	MIR374B,non_coding_transcript_exon_variant,,ENST00000390738,;FTX,intron_variant,,ENST00000602812,;FTX,intron_variant,,ENST00000603672,;FTX,intron_variant,,ENST00000602420,;MIR421,upstream_gene_variant,,ENST00000365696,;RP3-368A4.5,intron_variant,,ENST00000603037,;RP3-368A4.6,upstream_gene_variant,,ENST00000604070,;	47	60	109	SUCCESS
KIAA2022	0	.	GRCh37	X	73962088	73962088	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	55	55	0	ENST00000055682.6:c.2304A>T	p.Ser768=	p.S768=	ENST00000055682	NM_001008537.2	768	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35337.1	2304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTTGATGT	NONE	.	.	hmmpanther:PTHR10322:SF2,hmmpanther:PTHR10322	.	.	ENSP00000055682	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,synonymous_variant,p.%3D,ENST00000055682,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	2916	55	75	SUCCESS
BRWD3	254065	.	GRCh37	X	79984393	79984393	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	235	16	107	0	ENST00000373275.4:c.1244C>T	p.Pro415Leu	p.P415L	ENST00000373275	NM_153252.4	415	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14447.1	1244	MUTECT|MUSE	.	CAGATGGCAAA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362372	.	14/41	.	.	.	.	.	.	.	.	.	14/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.12)	.	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	SNV	BRWD3,missense_variant,p.Pro415Leu,ENST00000373275,;BRWD3,downstream_gene_variant,,ENST00000487313,;	1461	108	251	SUCCESS
PABPC5	140886	.	GRCh37	X	90690560	90690560	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	27	0	ENST00000312600.3:c.-17T>C		p.*6*	ENST00000312600	NM_080832.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14460.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCCCAG	NONE	.	.	.	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,5_prime_UTR_variant,,ENST00000312600,;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	198	27	93	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4968203	4968203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	189	188	1	ENST00000400457.2:c.2521A>T	p.Ile841Phe	p.I841F	ENST00000400457	NM_032973.2	841	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS14777.1	2584	RADIA|SOMATICSNIPER|VARSCANS	.	TTTTCATCACT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08374	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.662)	.	deleterious(0)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Ile862Phe,ENST00000215473,;PCDH11Y,missense_variant,p.Ile851Phe,ENST00000333703,;PCDH11Y,missense_variant,p.Ile841Phe,ENST00000400457,;PCDH11Y,missense_variant,p.Ile862Phe,ENST00000362095,;	3318	190	294	SUCCESS
FRMD4A	55691	.	GRCh37	10	13708157	13708157	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	73	0	ENST00000357447.2:c.1543A>C	p.Asn515His	p.N515H	ENST00000357447	NM_018027.3	515	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS7101.1	1543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATTGATTG	NONE	.	.	hmmpanther:PTHR23281:SF12,hmmpanther:PTHR23281	.	.	ENSP00000350032	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000357447	Transcript	.	.	ENSG00000151474	25491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.02)	.	FRM4A_HUMAN	FRMD4A	HGNC	F8WAN4_HUMAN	.	UPI0000366665	SNV	FRMD4A,missense_variant,p.Asn515His,ENST00000378503,;FRMD4A,missense_variant,p.Asn515His,ENST00000357447,;FRMD4A,missense_variant,p.Asn500His,ENST00000358621,;FRMD4A,downstream_gene_variant,,ENST00000264546,;RP11-295P9.3,intron_variant,,ENST00000593351,;	1912	73	60	SUCCESS
ITGA8	8516	.	GRCh37	10	15559170	15559170	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	23	0	ENST00000378076.3:c.3179C>G	p.Thr1060Ser	p.T1060S	ENST00000378076	NM_003638.1	1060	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS31155.1	3179	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGTCTTG	NONE	.	.	.	.	.	ENSP00000367316	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000378076	Transcript	1	.	ENSG00000077943	6144	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.35)	.	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,missense_variant,p.Thr1060Ser,ENST00000378076,;	3533	23	32	SUCCESS
MAP3K8	1326	.	GRCh37	10	30747090	30747090	+	synonymous_variant	Silent	SNP	C	C	A	rs746280858	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	130	0	ENST00000263056.1:c.951C>A	p.Leu317=	p.L317=	ENST00000263056	NM_001244134.1	317	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7166.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCTCATCCA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF94,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038171,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263056	.	7/9	.	.	.	.	.	.	.	.	rs746280858	7/9	PASS	ENST00000263056	Transcript	.	.	ENSG00000107968	6860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K8_HUMAN	MAP3K8	HGNC	Q5T857_HUMAN,Q5T853_HUMAN	.	UPI000013D395	SNV	MAP3K8,synonymous_variant,p.%3D,ENST00000263056,;MAP3K8,synonymous_variant,p.%3D,ENST00000542547,;MAP3K8,synonymous_variant,p.%3D,ENST00000375321,;	1647	130	131	SUCCESS
ZEB1	6935	.	GRCh37	10	31809696	31809696	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	33	61	1	ENST00000320985.10:c.1433G>A	p.Ser478Asn	p.S478N	ENST00000320985		478	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS53505.1	1436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGTCTTG	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF3	.	.	ENSP00000354487	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000361642	Transcript	1	.	ENSG00000148516	11642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.09)	.	ZEB1_HUMAN	ZEB1	HGNC	F6TDF5_HUMAN	.	UPI000068F51D	SNV	ZEB1,missense_variant,p.Ser458Asn,ENST00000560721,;ZEB1,missense_variant,p.Ser462Asn,ENST00000446923,;ZEB1,missense_variant,p.Ser479Asn,ENST00000361642,;ZEB1,missense_variant,p.Ser478Asn,ENST00000320985,;ZEB1,missense_variant,p.Ser486Asn,ENST00000561212,;ZEB1,missense_variant,p.Ser411Asn,ENST00000542815,;ZEB1,downstream_gene_variant,,ENST00000424869,;ZEB1,downstream_gene_variant,,ENST00000558440,;ZEB1,downstream_gene_variant,,ENST00000559476,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558863,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558655,;	1499	62	61	SUCCESS
PRKG1	5592	.	GRCh37	10	54031194	54031194	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1202969138	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	37	0	ENST00000373985.1:c.1177C>T	p.His393Tyr	p.H393Y	ENST00000373985	NM_001098512.2	393	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS7244.1	1258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCACATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF56112	.	.	ENSP00000363092	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.His405Tyr,ENST00000401604,;PRKG1,missense_variant,p.His123Tyr,ENST00000373975,;PRKG1,missense_variant,p.His393Tyr,ENST00000373985,;PRKG1,missense_variant,p.His420Tyr,ENST00000373980,;PRKG1-AS1,intron_variant,,ENST00000452247,;PRKG1-AS1,intron_variant,,ENST00000426785,;	1675	37	89	SUCCESS
CDH23	64072	.	GRCh37	10	73520591	73520591	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	127	0	ENST00000224721.6:c.4861-16846A>T		p.*1621*	ENST00000224721	NM_022124.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31218.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGAGAACC	NONE	.	.	.	.	.	ENSP00000378409	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394957	Transcript	.	.	ENSG00000107738	30085	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GI24_HUMAN	C10orf54	HGNC	.	.	UPI000004781D	SNV	C10orf54,intron_variant,,ENST00000394957,;CDH23,intron_variant,,ENST00000224721,;C10orf54,upstream_gene_variant,,ENST00000470317,;C10orf54,non_coding_transcript_exon_variant,,ENST00000481568,;	.	128	97	SUCCESS
PDGFD	80310	.	GRCh37	11	103814257	103814257	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	24	72	0	ENST00000393158.2:c.695G>T	p.Trp232Leu	p.W232L	ENST00000393158		232	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS41703.1	695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCATGAC	NONE	.	.	hmmpanther:PTHR10127:SF13,hmmpanther:PTHR10127	.	.	ENSP00000376865	.	5/7	.	.	.	.	.	.	.	.	COSM1220042,COSM1220043	5/7	PASS	ENST00000393158	Transcript	.	.	ENSG00000170962	30620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.029)	.	deleterious(0.02)	1,1	PDGFD_HUMAN	PDGFD	HGNC	.	.	UPI0000034811	SNV	PDGFD,missense_variant,p.Trp226Leu,ENST00000302251,;PDGFD,missense_variant,p.Trp232Leu,ENST00000393158,;PDGFD,downstream_gene_variant,,ENST00000529268,;RP11-617B3.2,upstream_gene_variant,,ENST00000527804,;	875	73	110	SUCCESS
ZC3H12C	85463	.	GRCh37	11	110034060	110034060	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	76	0	ENST00000278590.3:c.1211A>G	p.Lys404Arg	p.K404R	ENST00000278590	NM_033390.1	404	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS44727.1	1211	MUTECT|MUSE|VARSCANS	.	GAGGAAGAAAC	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24	.	.	ENSP00000278590	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000278590	Transcript	.	.	ENSG00000149289	29362	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.937)	.	deleterious(0.02)	.	ZC12C_HUMAN	ZC3H12C	HGNC	E9PP00_HUMAN	.	UPI0000DD80B8	SNV	ZC3H12C,missense_variant,p.Lys373Arg,ENST00000453089,;ZC3H12C,missense_variant,p.Lys404Arg,ENST00000278590,;ZC3H12C,missense_variant,p.Lys405Arg,ENST00000528673,;	1262	76	58	SUCCESS
DSCAML1	57453	.	GRCh37	11	117321317	117321317	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	58	0	ENST00000321322.6:c.3836G>A	p.Gly1279Glu	p.G1279E	ENST00000321322	NM_020693.2	1279	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS8384.1	3836	RADIA|MUTECT|VARSCANS	.	TCACCCCGTTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000315465	.	20/33	.	.	.	.	.	.	.	.	COSM3443807	20/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.993)	.	deleterious(0)	1	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Gly1009Glu,ENST00000527706,;DSCAML1,missense_variant,p.Gly1279Glu,ENST00000321322,;	3838	58	35	SUCCESS
NELL1	4745	.	GRCh37	11	21555918	21555918	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	29	65	0	ENST00000357134.5:c.1646-2A>G		p.X549_splice	ENST00000357134	NM_201551.1	549		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7855.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCAGATAT	NONE	.	.	.	.	.	ENSP00000349654	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357134	Transcript	.	.	ENSG00000165973	7750	.	.	HIGH	15/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELL1_HUMAN	NELL1	HGNC	K9UUD5_HUMAN	.	UPI000013E53D	SNV	NELL1,splice_acceptor_variant,,ENST00000325319,;NELL1,splice_acceptor_variant,,ENST00000357134,;NELL1,splice_acceptor_variant,,ENST00000298925,;NELL1,intron_variant,,ENST00000532434,;NELL1,splice_acceptor_variant,,ENST00000529218,;	.	65	98	SUCCESS
SIRT3	23410	.	GRCh37	11	230535	230535	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	146	0	ENST00000382743.4:c.724T>G	p.Ser242Ala	p.S242A	ENST00000382743	NM_012239.5	242	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS7691.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGAGGCAG	NONE	.	.	PROSITE_profiles:PS50305,hmmpanther:PTHR11085:SF14,hmmpanther:PTHR11085,Gene3D:3.40.50.1220,Pfam_domain:PF02146,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467	.	.	ENSP00000372191	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000382743	Transcript	.	.	ENSG00000142082	14931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.203)	.	tolerated(0.05)	.	SIR3_HUMAN	SIRT3	HGNC	E9PNA0_HUMAN,E9PM52_HUMAN	.	UPI0000073D3C	SNV	SIRT3,missense_variant,p.Ser242Ala,ENST00000532956,;SIRT3,missense_variant,p.Ser161Ala,ENST00000525319,;SIRT3,missense_variant,p.Ser178Ala,ENST00000524564,;SIRT3,missense_variant,p.Ser100Ala,ENST00000529382,;SIRT3,missense_variant,p.Ser242Ala,ENST00000382743,;SIRT3,downstream_gene_variant,,ENST00000525776,;SIRT3,downstream_gene_variant,,ENST00000528469,;SIRT3,downstream_gene_variant,,ENST00000525237,;SIRT3,non_coding_transcript_exon_variant,,ENST00000528702,;SIRT3,intron_variant,,ENST00000531753,;SIRT3,3_prime_UTR_variant,,ENST00000526854,;SIRT3,3_prime_UTR_variant,,ENST00000532837,;SIRT3,3_prime_UTR_variant,,ENST00000529055,;SIRT3,non_coding_transcript_exon_variant,,ENST00000534381,;SIRT3,intron_variant,,ENST00000529937,;SIRT3,downstream_gene_variant,,ENST00000530067,;	827	146	99	SUCCESS
NUP98	4928	.	GRCh37	11	3797196	3797196	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	34	184	0	ENST00000359171.4:c.411T>A	p.Ser137=	p.S137=	ENST00000359171		137	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7746.1	411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTAGAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23198,hmmpanther:PTHR23198:SF0	.	.	ENSP00000316032	.	5/33	.	.	.	.	.	.	.	.	COSM926813	5/33	PASS	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	NUP98,synonymous_variant,p.%3D,ENST00000324932,;NUP98,synonymous_variant,p.%3D,ENST00000532475,;NUP98,synonymous_variant,p.%3D,ENST00000359171,;NUP98,synonymous_variant,p.%3D,ENST00000397007,;NUP98,synonymous_variant,p.%3D,ENST00000355260,;NUP98,synonymous_variant,p.%3D,ENST00000397004,;	832	184	147	SUCCESS
HBE1	3046	.	GRCh37	11	5291042	5291042	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	49	0	ENST00000292896.2:c.79G>C	p.Glu27Gln	p.E27Q	ENST00000292896	NM_005330.3	27	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS7756.1	79	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCACCTC	NONE	.	.	Superfamily_domains:SSF46458,Gene3D:1.10.490.10,Pfam_domain:PF00042,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF7,PROSITE_profiles:PS01033	.	.	ENSP00000369586	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000380237	Transcript	.	.	ENSG00000213931	4830	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.193)	.	tolerated(0.25)	.	HBE_HUMAN	HBE1	HGNC	D9YZU7_HUMAN,A8MUF7_HUMAN	.	UPI00000004B9	SNV	HBE1,missense_variant,p.Glu27Gln,ENST00000396895,;HBE1,missense_variant,p.Glu27Gln,ENST00000380237,;HBE1,missense_variant,p.Glu27Gln,ENST00000292896,;HBG2,intron_variant,,ENST00000380252,;HBG2,intron_variant,,ENST00000380259,;	424	49	79	SUCCESS
TRIM51	84767	.	GRCh37	11	55659022	55659022	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	29	0	ENST00000449290.2:c.1273G>A	p.Val425Ile	p.V425I	ENST00000449290	NM_032681.3	425	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	.	1273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGTTGAT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103,Pfam_domain:PF00622,Superfamily_domains:SSF49899	.	.	ENSP00000395086	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious(0.02)	.	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,missense_variant,p.Val425Ile,ENST00000449290,;TRIM51,missense_variant,p.Val282Ile,ENST00000244891,;	1365	29	34	SUCCESS
MAP3K11	4296	.	GRCh37	11	65380716	65380716	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	134	0	ENST00000309100.3:c.512T>A	p.Leu171Gln	p.L171Q	ENST00000309100	NM_002419.3	171	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS8107.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGCATG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF329,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Superfamily_domains:SSF56112	.	.	ENSP00000309597	.	1/10	.	.	.	.	.	.	.	.	COSM1676181	1/10	PASS	ENST00000309100	Transcript	.	.	ENSG00000173327	6850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,missense_variant,p.Leu171Gln,ENST00000309100,;MAP3K11,intron_variant,,ENST00000526293,;MAP3K11,intron_variant,,ENST00000529839,;PCNXL3,upstream_gene_variant,,ENST00000355703,;MAP3K11,upstream_gene_variant,,ENST00000530153,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000524856,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000527304,;MAP3K11,upstream_gene_variant,,ENST00000534110,;MAP3K11,upstream_gene_variant,,ENST00000524848,;MAP3K11,upstream_gene_variant,,ENST00000530949,;	998	134	75	SUCCESS
LRP5	4041	.	GRCh37	11	68181295	68181295	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	121	0	ENST00000294304.7:c.2642T>G	p.Leu881Arg	p.L881R	ENST00000294304	NM_002335.2	881	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8181.1	2642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCTCATCC	NONE	.	.	Superfamily_domains:SSF63825,PIRSF_domain:PIRSF036314,Pfam_domain:PF00058,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	.	.	ENSP00000294304	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000294304	Transcript	.	.	ENSG00000162337	6697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.87)	.	LRP5_HUMAN	LRP5	HGNC	E9PHY1_HUMAN	.	UPI0000073246	SNV	LRP5,missense_variant,p.Leu881Arg,ENST00000294304,;LRP5,downstream_gene_variant,,ENST00000528714,;LRP5,3_prime_UTR_variant,,ENST00000529993,;	2748	121	73	SUCCESS
LRP5	4041	.	GRCh37	11	68216342	68216342	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	77	0	ENST00000294304.7:c.4652A>T	p.Asp1551Val	p.D1551V	ENST00000294304	NM_002335.2	1551	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS8181.1	4652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGACTACA	NONE	.	.	PIRSF_domain:PIRSF036314,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529	.	.	ENSP00000294304	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000294304	Transcript	.	.	ENSG00000162337	6697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	LRP5_HUMAN	LRP5	HGNC	E9PHY1_HUMAN	.	UPI0000073246	SNV	LRP5,missense_variant,p.Asp1551Val,ENST00000294304,;LRP5,missense_variant,p.Asp108Val,ENST00000529702,;LRP5,non_coding_transcript_exon_variant,,ENST00000529481,;LRP5,3_prime_UTR_variant,,ENST00000529993,;	4758	77	51	SUCCESS
PAAF1	80227	.	GRCh37	11	73588063	73588063	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs747497342	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	91	0	ENST00000310571.3:c.-4C>A		p.*2*	ENST00000310571	NM_025155.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8226.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCGAGAT	NONE	.	.	.	.	.	ENSP00000311665	.	1/12	.	.	.	.	.	.	.	.	rs747497342	1/12	PASS	ENST00000310571	Transcript	.	.	ENSG00000175575	25687	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAAF1_HUMAN	PAAF1	HGNC	F5H3E9_HUMAN	.	UPI000007150C	SNV	PAAF1,5_prime_UTR_variant,,ENST00000310571,;PAAF1,5_prime_UTR_variant,,ENST00000543814,;PAAF1,5_prime_UTR_variant,,ENST00000542293,;PAAF1,5_prime_UTR_variant,,ENST00000536003,;PAAF1,5_prime_UTR_variant,,ENST00000504441,;PAAF1,5_prime_UTR_variant,,ENST00000535604,;PAAF1,intron_variant,,ENST00000541951,;PAAF1,upstream_gene_variant,,ENST00000546039,;COA4,upstream_gene_variant,,ENST00000355693,;COA4,upstream_gene_variant,,ENST00000545127,;PAAF1,upstream_gene_variant,,ENST00000544552,;COA4,upstream_gene_variant,,ENST00000537289,;COA4,upstream_gene_variant,,ENST00000541455,;COA4,upstream_gene_variant,,ENST00000544575,;COA4,upstream_gene_variant,,ENST00000537581,;PAAF1,non_coding_transcript_exon_variant,,ENST00000381783,;	50	91	53	SUCCESS
ANAPC7	51434	.	GRCh37	12	110819712	110819712	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs930175620	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	55	0	ENST00000455511.3:c.1079A>G	p.Tyr360Cys	p.Y360C	ENST00000455511	NM_016238.2	360	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9145.2	1079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAATAGAGG	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR12558:SF8,hmmpanther:PTHR12558,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452	.	.	ENSP00000394394	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000455511	Transcript	.	.	ENSG00000196510	17380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	APC7_HUMAN	ANAPC7	HGNC	Q69YV3_HUMAN,Q4KMX6_HUMAN	.	UPI0000EE28AF	SNV	ANAPC7,missense_variant,p.Tyr360Cys,ENST00000455511,;ANAPC7,missense_variant,p.Tyr360Cys,ENST00000450008,;ANAPC7,upstream_gene_variant,,ENST00000552087,;ANAPC7,downstream_gene_variant,,ENST00000546720,;ANAPC7,upstream_gene_variant,,ENST00000547199,;ANAPC7,upstream_gene_variant,,ENST00000481473,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000548234,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000471602,;ANAPC7,downstream_gene_variant,,ENST00000552170,;ANAPC7,upstream_gene_variant,,ENST00000452721,;ANAPC7,upstream_gene_variant,,ENST00000486321,;	1080	55	42	SUCCESS
VSIG10	54621	.	GRCh37	12	118504496	118504496	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	62	189	1	ENST00000359236.5:c.1571A>G	p.Asp524Gly	p.D524G	ENST00000359236	NM_019086.5	524	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS44992.1	1571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTCATCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000352172	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000359236	Transcript	.	.	ENSG00000176834	26078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	deleterious(0.03)	.	VSI10_HUMAN	VSIG10	HGNC	.	.	UPI000007385F	SNV	VSIG10,missense_variant,p.Asp524Gly,ENST00000359236,;WSB2,upstream_gene_variant,,ENST00000537945,;WSB2,upstream_gene_variant,,ENST00000441406,;WSB2,upstream_gene_variant,,ENST00000542726,;VSIG10,downstream_gene_variant,,ENST00000545259,;	1848	190	164	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18691110	18691110	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1403012337	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	22	0	ENST00000266497.5:c.3221T>G	p.Phe1074Cys	p.F1074C	ENST00000266497		1074	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS44839.1	3221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTTACTT	NONE	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,Gene3D:1.10.1070.11,Pfam_domain:PF00454,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000404845	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,missense_variant,p.Phe1115Cys,ENST00000538779,;PIK3C2G,missense_variant,p.Phe1074Cys,ENST00000266497,;PIK3C2G,missense_variant,p.Phe1074Cys,ENST00000433979,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	3337	22	62	SUCCESS
ARID2	196528	.	GRCh37	12	46245723	46245723	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	63	0	ENST00000334344.6:c.3817C>T	p.Arg1273Ter	p.R1273*	ENST00000334344	NM_152641.2	1273	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS31783.1	3817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGACGAGGA	SITE|p.R1273*|c.3817C>T|4	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	COSM1606141,COSM1322501	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,stop_gained,p.Arg1273Ter,ENST00000334344,;ARID2,stop_gained,p.Arg883Ter,ENST00000444670,;ARID2,stop_gained,p.Arg1124Ter,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	3989	63	62	SUCCESS
AKAP3	10566	.	GRCh37	12	4737496	4737496	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	35	95	0	ENST00000228850.1:c.572C>T	p.Ala191Val	p.A191V	ENST00000228850		191	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8531.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCAGCA	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000440994	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000545990	Transcript	.	.	ENSG00000111254	373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.22)	.	AKAP3_HUMAN	AKAP3	HGNC	F5H7P4_HUMAN,F5H2S4_HUMAN	.	UPI000013C8DF	SNV	AKAP3,missense_variant,p.Ala191Val,ENST00000545990,;AKAP3,missense_variant,p.Ala191Val,ENST00000228850,;AKAP3,downstream_gene_variant,,ENST00000540967,;AKAP3,downstream_gene_variant,,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;	1097	95	88	SUCCESS
COL2A1	1280	.	GRCh37	12	48391816	48391816	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	149	0	ENST00000380518.3:c.374A>G	p.Gln125Arg	p.Q125R	ENST00000380518	NM_033150.2	125	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS41778.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTGAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Pfam_domain:PF01391	.	.	ENSP00000369889	.	5/54	.	.	.	.	.	.	.	.	.	5/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,missense_variant,p.Gln125Arg,ENST00000380518,;COL2A1,missense_variant,p.Gln56Arg,ENST00000337299,;COL2A1,splice_region_variant,,ENST00000474996,;COL2A1,downstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000465743,;COL2A1,downstream_gene_variant,,ENST00000490609,;	539	149	91	SUCCESS
KRT72	140807	.	GRCh37	12	52979943	52979943	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs200611701	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	23	53	0	ENST00000293745.2:c.1359del	p.Ser453ArgfsTer189	p.S453Rfs*189	ENST00000293745	NM_080747.2	453	agC/ag	0	.	A:0	.	A:0	.	-	S/X	protein_coding	YES	CCDS8833.1	1359	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGGTGCTGCT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239	A:0.001	.	ENSP00000293745	A:0	9/9	.	.	.	.	.	.	.	.	rs200611701	9/9	PASS	ENST00000293745	Transcript	.	A:0.0002	ENSG00000170486	28932	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	K2C72_HUMAN	KRT72	HGNC	B4DXK4_HUMAN	.	UPI0000055AC8	deletion	KRT72,frameshift_variant,p.Ser453ArgfsTer68,ENST00000537672,;KRT72,frameshift_variant,p.Ser265ArgfsTer?,ENST00000398066,;KRT72,frameshift_variant,p.Ser453ArgfsTer189,ENST00000293745,;KRT72,frameshift_variant,p.Ser411ArgfsTer?,ENST00000354310,;KRT72,3_prime_UTR_variant,,ENST00000550829,;	1445	53	86	SUCCESS
XPO4	64328	.	GRCh37	13	21361634	21361634	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767138478	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	127	0	ENST00000255305.6:c.3151C>G	p.Arg1051Gly	p.R1051G	ENST00000255305		1051	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS41872.1	3151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCGTGTTG	NONE	byFrequency	.	hmmpanther:PTHR12596:SF1,hmmpanther:PTHR12596,Pfam_domain:PF08767,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000255305	.	21/23	.	.	.	.	.	.	.	.	rs767138478,COSM1168773,COSM3384759	21/23	PASS	ENST00000255305	Transcript	.	.	ENSG00000132953	17796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.155)	.	tolerated(0.18)	0,1,1	XPO4_HUMAN	XPO4	HGNC	Q8IVQ8_HUMAN,Q0VG75_HUMAN	.	UPI0000139018	SNV	XPO4,missense_variant,p.Arg1051Gly,ENST00000255305,;XPO4,missense_variant,p.Arg1051Gly,ENST00000400602,;	3223	127	80	SUCCESS
POTEG	404785	.	GRCh37	14	19563423	19563423	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	32	144	0	ENST00000547889.1:c.937G>T	p.Val313Leu	p.V313L	ENST00000547889		313	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS32018.1	937	RADIA|VARSCANS	.	TTGCTGTATGT	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000386971	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.952)	.	tolerated(0.15)	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,missense_variant,p.Val313Leu,ENST00000409832,;CTD-2311B13.5,non_coding_transcript_exon_variant,,ENST00000548748,;RNU6-1239P,upstream_gene_variant,,ENST00000391310,;POTEG,missense_variant,p.Val313Leu,ENST00000547889,;POTEG,3_prime_UTR_variant,,ENST00000552966,;	989	144	140	SUCCESS
ACIN1	22985	.	GRCh37	14	23530298	23530298	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	137	0	ENST00000262710.1:c.3694A>G	p.Ser1232Gly	p.S1232G	ENST00000262710	NM_001164814.1	1232	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS9587.1	3694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTGTCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14127	.	.	ENSP00000262710	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000262710	Transcript	.	.	ENSG00000100813	17066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	.	.	ACINU_HUMAN	ACIN1	HGNC	S4R3H4_HUMAN	.	UPI000013D308	SNV	ACIN1,missense_variant,p.Ser1232Gly,ENST00000262710,;ACIN1,missense_variant,p.Ser474Gly,ENST00000357481,;ACIN1,missense_variant,p.Ser474Gly,ENST00000397341,;ACIN1,missense_variant,p.Ser1174Gly,ENST00000605057,;ACIN1,missense_variant,p.Ser1219Gly,ENST00000555053,;ACIN1,missense_variant,p.Ser1192Gly,ENST00000457657,;ACIN1,missense_variant,p.Ser505Gly,ENST00000338631,;ACIN1,missense_variant,p.Ser473Gly,ENST00000557515,;CDH24,upstream_gene_variant,,ENST00000397359,;ACIN1,downstream_gene_variant,,ENST00000555566,;CDH24,upstream_gene_variant,,ENST00000487137,;ACIN1,non_coding_transcript_exon_variant,,ENST00000473758,;ACIN1,downstream_gene_variant,,ENST00000555395,;ACIN1,downstream_gene_variant,,ENST00000553790,;ACIN1,downstream_gene_variant,,ENST00000557039,;ACIN1,downstream_gene_variant,,ENST00000555478,;ACIN1,downstream_gene_variant,,ENST00000556052,;ACIN1,downstream_gene_variant,,ENST00000554680,;ACIN1,downstream_gene_variant,,ENST00000555807,;	4022	137	83	SUCCESS
MYH7	4625	.	GRCh37	14	23898464	23898464	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs730880868	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	57	196	0	ENST00000355349.3:c.1231G>A	p.Val411Ile	p.V411I	ENST00000355349	NM_000257.2	411	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS9601.1	1231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GGTGACGTACT	NONE	byCluster	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	13/40	.	.	.	.	.	.	.	.	rs730880868,CM032602,FHC1034,COSM4050076	13/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,1	.	.	probably_damaging(0.939)	.	deleterious(0.05)	0,0,0,1	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Val411Ile,ENST00000355349,;	1394	196	153	SUCCESS
TINF2	26277	.	GRCh37	14	24709083	24709083	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	61	211	0	ENST00000267415.7:c.1276T>G	p.Cys426Gly	p.C426G	ENST00000267415	NM_001099274.1	426	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS41936.1	1276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACAGAGAG	NONE	.	.	hmmpanther:PTHR15512:SF0,hmmpanther:PTHR15512	.	.	ENSP00000267415	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000267415	Transcript	.	.	ENSG00000092330	11824	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.13)	.	TINF2_HUMAN	TINF2	HGNC	Q86TZ8_HUMAN,H0YKA6_HUMAN,B3W5Q7_HUMAN	.	UPI0000136FAB	SNV	TINF2,missense_variant,p.Cys426Gly,ENST00000267415,;TINF2,missense_variant,p.Cys391Gly,ENST00000540705,;TINF2,3_prime_UTR_variant,,ENST00000538777,;TINF2,3_prime_UTR_variant,,ENST00000399423,;TINF2,3_prime_UTR_variant,,ENST00000558566,;TINF2,3_prime_UTR_variant,,ENST00000559969,;TINF2,3_prime_UTR_variant,,ENST00000560019,;GMPR2,downstream_gene_variant,,ENST00000560139,;GMPR2,downstream_gene_variant,,ENST00000559479,;GMPR2,downstream_gene_variant,,ENST00000559943,;GMPR2,downstream_gene_variant,,ENST00000399440,;GMPR2,downstream_gene_variant,,ENST00000559409,;GMPR2,downstream_gene_variant,,ENST00000558279,;GMPR2,downstream_gene_variant,,ENST00000559836,;GMPR2,downstream_gene_variant,,ENST00000558788,;TINF2,downstream_gene_variant,,ENST00000557921,;GMPR2,downstream_gene_variant,,ENST00000559910,;GMPR2,downstream_gene_variant,,ENST00000558748,;GMPR2,downstream_gene_variant,,ENST00000558483,;GMPR2,downstream_gene_variant,,ENST00000355299,;GMPR2,downstream_gene_variant,,ENST00000561035,;GMPR2,downstream_gene_variant,,ENST00000420554,;GMPR2,downstream_gene_variant,,ENST00000558932,;GMPR2,downstream_gene_variant,,ENST00000559104,;GMPR2,downstream_gene_variant,,ENST00000456667,;GMPR2,downstream_gene_variant,,ENST00000558865,;TINF2,downstream_gene_variant,,ENST00000559019,;TINF2,downstream_gene_variant,,ENST00000558476,;GMPR2,downstream_gene_variant,,ENST00000348719,;GMPR2,downstream_gene_variant,,ENST00000557854,;TINF2,downstream_gene_variant,,ENST00000558510,;GMPR2,downstream_gene_variant,,ENST00000558701,;GMPR2,downstream_gene_variant,,ENST00000560517,;TINF2,non_coding_transcript_exon_variant,,ENST00000557915,;TINF2,non_coding_transcript_exon_variant,,ENST00000558703,;TINF2,downstream_gene_variant,,ENST00000559549,;TINF2,downstream_gene_variant,,ENST00000557830,;GMPR2,downstream_gene_variant,,ENST00000558007,;GMPR2,downstream_gene_variant,,ENST00000559102,;GMPR2,downstream_gene_variant,,ENST00000559606,;TINF2,downstream_gene_variant,,ENST00000559147,;GMPR2,downstream_gene_variant,,ENST00000561038,;GMPR2,downstream_gene_variant,,ENST00000559287,;GMPR2,downstream_gene_variant,,ENST00000558760,;GMPR2,downstream_gene_variant,,ENST00000561130,;	1618	211	153	SUCCESS
NFATC4	4776	.	GRCh37	14	24839776	24839776	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752150894	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	61	0	ENST00000250373.4:c.1172T>C	p.Ile391Thr	p.I391T	ENST00000250373	NM_004554.4	391	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS45089.1	1361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGATTGGGG	NONE	.	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9	.	.	ENSP00000388910	.	3/10	.	.	.	.	.	.	.	.	rs752150894	3/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.09)	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,missense_variant,p.Ile391Thr,ENST00000554050,;NFATC4,missense_variant,p.Ile379Thr,ENST00000422617,;NFATC4,missense_variant,p.Ile391Thr,ENST00000250373,;NFATC4,missense_variant,p.Ile404Thr,ENST00000555590,;NFATC4,missense_variant,p.Ile379Thr,ENST00000556169,;NFATC4,missense_variant,p.Ile423Thr,ENST00000553469,;NFATC4,missense_variant,p.Ile423Thr,ENST00000539237,;NFATC4,missense_variant,p.Ile321Thr,ENST00000554661,;NFATC4,missense_variant,p.Ile379Thr,ENST00000555453,;NFATC4,missense_variant,p.Ile391Thr,ENST00000553708,;NFATC4,missense_variant,p.Ile321Thr,ENST00000557451,;NFATC4,missense_variant,p.Ile454Thr,ENST00000413692,;NFATC4,missense_variant,p.Ile423Thr,ENST00000556279,;NFATC4,missense_variant,p.Ile321Thr,ENST00000553879,;NFATC4,missense_variant,p.Ile404Thr,ENST00000424781,;NFATC4,missense_variant,p.Ile454Thr,ENST00000554591,;NFATC4,missense_variant,p.Ile404Thr,ENST00000554966,;NFATC4,missense_variant,p.Ile321Thr,ENST00000554344,;NFATC4,intron_variant,,ENST00000554779,;NFATC4,upstream_gene_variant,,ENST00000554473,;NFATC4,upstream_gene_variant,,ENST00000555167,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,upstream_gene_variant,,ENST00000556759,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,non_coding_transcript_exon_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,intron_variant,,ENST00000557028,;	1505	61	52	SUCCESS
SGPP1	81537	.	GRCh37	14	64165361	64165361	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	144	0	ENST00000247225.6:c.700G>A	p.Gly234Arg	p.G234R	ENST00000247225	NM_030791.2	234	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS9760.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCCATATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14969:SF16,hmmpanther:PTHR14969,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000247225	.	2/3	.	.	.	.	.	.	.	.	COSM698163	2/3	PASS	ENST00000247225	Transcript	.	.	ENSG00000126821	17720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SGPP1_HUMAN	SGPP1	HGNC	.	.	UPI000006DEB2	SNV	SGPP1,missense_variant,p.Gly234Arg,ENST00000247225,;	795	144	84	SUCCESS
RDH12	145226	.	GRCh37	14	68195937	68195937	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs104894476	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	31	0	ENST00000267502.3:c.688C>G	p.Pro230Ala	p.P230A	ENST00000267502		230	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS9787.1	688	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	pathogenic	TGCACCCAGGC	NONE	byCluster	.	hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF256,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000449079	.	8/9	.	.	.	.	.	.	.	.	CM042470,rs104894476	8/9	PASS	ENST00000551171	Transcript	.	.	ENSG00000139988	19977	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RDH12_HUMAN	RDH12	HGNC	.	.	UPI0000071827	SNV	RDH12,missense_variant,p.Pro230Ala,ENST00000539142,;RDH12,missense_variant,p.Pro230Ala,ENST00000551171,;RDH12,missense_variant,p.Pro230Ala,ENST00000267502,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000394455,;RDH12,non_coding_transcript_exon_variant,,ENST00000552873,;	1012	32	35	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68265045	68265045	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	154	0	ENST00000347230.4:c.1934T>A	p.Met645Lys	p.M645K	ENST00000347230	NM_015346.3	645	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS9788.1	1934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCATTGTA	NONE	.	.	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115	.	.	ENSP00000251119	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.3)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Met645Lys,ENST00000555452,;ZFYVE26,missense_variant,p.Met645Lys,ENST00000347230,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;RP11-1012A1.7,upstream_gene_variant,,ENST00000557141,;	2073	154	105	SUCCESS
B2M	567	.	GRCh37	15	45003714	45003714	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs202206021	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	59	0	ENST00000558401.1:c.-31C>T		p.*11*	ENST00000558401	NM_004048.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS10113.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCATTCC	NONE	byFrequency|byCluster|by1000G	.	.	T:0.002	.	ENSP00000452780	T:0	1/4	.	.	.	.	.	.	.	.	rs202206021	1/4	PASS	ENST00000558401	Transcript	1	T:0.0004	ENSG00000166710	914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	B2MG_HUMAN	B2M	HGNC	Q9UM88_HUMAN,H0YLF3_HUMAN,A6XND9_HUMAN	.	UPI000000D892	SNV	B2M,5_prime_UTR_variant,,ENST00000558401,;B2M,5_prime_UTR_variant,,ENST00000559916,;B2M,upstream_gene_variant,,ENST00000544417,;B2M,upstream_gene_variant,,ENST00000560556,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000559220,;B2M,upstream_gene_variant,,ENST00000559907,;B2M,5_prime_UTR_variant,,ENST00000561424,;B2M,5_prime_UTR_variant,,ENST00000559720,;B2M,upstream_gene_variant,,ENST00000560681,;B2M,upstream_gene_variant,,ENST00000349264,;B2M,upstream_gene_variant,,ENST00000557901,;B2M,upstream_gene_variant,,ENST00000561139,;	40	59	49	SUCCESS
MPI	4351	.	GRCh37	15	75182913	75182914	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	89	0	ENST00000352410.4:c.65dup	p.Ser23PhefsTer13	p.S23Ffs*13	ENST00000352410		21	atg/atGg	0	.	.	.	.	.	G	M/MX	protein_coding	YES	CCDS10272.1	62-63	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGATGGGTT	NONE	.	.	hmmpanther:PTHR10309:SF0,hmmpanther:PTHR10309,Gene3D:2.60.120.10,TIGRFAM_domain:TIGR00218,Pfam_domain:PF01238,PIRSF_domain:PIRSF001480,Superfamily_domains:SSF51182,Prints_domain:PR00714	.	.	ENSP00000318318	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000352410	Transcript	1	.	ENSG00000178802	7216	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPI_HUMAN	MPI	HGNC	H3BPU7_HUMAN,H3BPM5_HUMAN,H3BPB8_HUMAN,H3BP57_HUMAN,F5GX71_HUMAN	.	UPI000000DB74	insertion	MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000352410,;MPI,frameshift_variant,p.Ser3PhefsTer13,ENST00000564633,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000323744,;MPI,frameshift_variant,p.Ser3PhefsTer13,ENST00000563786,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000566377,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000568828,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000565576,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000567132,;MPI,frameshift_variant,p.Ser3PhefsTer13,ENST00000567570,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000563422,;MPI,frameshift_variant,p.Ser10PhefsTer13,ENST00000567177,;MPI,frameshift_variant,p.Ser3PhefsTer13,ENST00000569931,;MPI,frameshift_variant,p.Ser3PhefsTer13,ENST00000562606,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000562800,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000568907,;MPI,frameshift_variant,p.Ser23PhefsTer13,ENST00000569233,;MPI,intron_variant,,ENST00000564003,;MPI,intron_variant,,ENST00000535694,;MPI,frameshift_variant,p.Phe60ValfsTer50,ENST00000561470,;MPI,non_coding_transcript_exon_variant,,ENST00000568840,;MPI,non_coding_transcript_exon_variant,,ENST00000568303,;MPI,non_coding_transcript_exon_variant,,ENST00000567116,;MPI,upstream_gene_variant,,ENST00000566556,;	129-130	89	77	SUCCESS
BTBD1	53339	.	GRCh37	15	83698992	83698992	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	119	0	ENST00000261721.4:c.951C>A	p.Tyr317Ter	p.Y317*	ENST00000261721	NM_001011885.1	317	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS10322.1	951	MUTECT|MUSE|VARSCANS	.	TCAATGTATTC	NONE	.	.	hmmpanther:PTHR24413:SF15,hmmpanther:PTHR24413	.	.	ENSP00000261721	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000261721	Transcript	.	.	ENSG00000064726	1120	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BTBD1_HUMAN	BTBD1	HGNC	B7Z572_HUMAN	.	UPI00000012BE	SNV	BTBD1,stop_gained,p.Tyr317Ter,ENST00000379403,;BTBD1,stop_gained,p.Tyr317Ter,ENST00000261721,;RP11-382A20.6,intron_variant,,ENST00000568441,;RP11-382A20.7,intron_variant,,ENST00000570202,;RP11-382A20.5,intron_variant,,ENST00000566841,;BTBD1,non_coding_transcript_exon_variant,,ENST00000560015,;BTBD1,3_prime_UTR_variant,,ENST00000559652,;BTBD1,non_coding_transcript_exon_variant,,ENST00000558344,;	1154	119	104	SUCCESS
CIITA	4261	.	GRCh37	16	11016299	11016300	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	88	40	138	0	ENST00000324288.8:c.3270dup	p.Gln1091AlafsTer61	p.Q1091Afs*61	ENST00000324288	NM_000246.3	1090	cag/caGg	0	.	.	.	.	.	G	Q/QX	protein_coding	YES	CCDS10544.1	3269-3270	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCCAGCAGC	NONE	.	.	hmmpanther:PTHR24106:SF104,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000316328	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000324288	Transcript	.	.	ENSG00000179583	7067	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C2TA_HUMAN	CIITA	HGNC	I3L2E5_HUMAN	.	UPI0000456914	insertion	CIITA,frameshift_variant,p.Gln507AlafsTer61,ENST00000381835,;CIITA,frameshift_variant,p.Gln1091AlafsTer61,ENST00000324288,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,upstream_gene_variant,,ENST00000575513,;	3402-3403	138	128	SUCCESS
ERI2	112479	.	GRCh37	16	20810369	20810369	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	24	0	ENST00000357967.4:c.753C>T	p.Phe251=	p.F251=	ENST00000357967	NM_001142725.1	251	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS45436.1	753	RADIA|MUSE	.	ATGCTGAAATT	NONE	.	.	hmmpanther:PTHR23044:SF30,hmmpanther:PTHR23044	.	.	ENSP00000350651	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000357967	Transcript	.	.	ENSG00000196678	30541	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERI2_HUMAN	ERI2	HGNC	.	.	UPI0000EE8210	SNV	ERI2,synonymous_variant,p.%3D,ENST00000563117,;ERI2,synonymous_variant,p.%3D,ENST00000564349,;ERI2,synonymous_variant,p.%3D,ENST00000357967,;ERI2,5_prime_UTR_variant,,ENST00000389345,;ERI2,intron_variant,,ENST00000569729,;ERI2,intron_variant,,ENST00000300005,;ACSM3,downstream_gene_variant,,ENST00000562251,;ACSM3,downstream_gene_variant,,ENST00000569141,;ACSM3,downstream_gene_variant,,ENST00000289416,;ACSM3,downstream_gene_variant,,ENST00000450120,;ERI2,downstream_gene_variant,,ENST00000563537,;ACSM3,downstream_gene_variant,,ENST00000567387,;ERI2,downstream_gene_variant,,ENST00000565884,;ACSM3,downstream_gene_variant,,ENST00000567711,;ERI2,downstream_gene_variant,,ENST00000566223,;ERI2,downstream_gene_variant,,ENST00000567562,;ERI2,downstream_gene_variant,,ENST00000562277,;ERI2,3_prime_UTR_variant,,ENST00000568805,;ERI2,non_coding_transcript_exon_variant,,ENST00000562215,;ERI2,intron_variant,,ENST00000562987,;ERI2,downstream_gene_variant,,ENST00000567859,;ACSM3,downstream_gene_variant,,ENST00000567006,;	796	24	21	SUCCESS
NOD2	64127	.	GRCh37	16	50745410	50745410	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1355322844	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	75	0	ENST00000300589.2:c.1588T>C	p.Ser530Pro	p.S530P	ENST00000300589	NM_022162.1	530	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS10746.1	1588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACTCAGCT	BUFFER|p.P528fs*235|c.1577delC|6	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64	.	.	ENSP00000300589	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000300589	Transcript	.	.	ENSG00000167207	5331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	tolerated(0.07)	.	NOD2_HUMAN	NOD2	HGNC	Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN	.	UPI000005027A	SNV	NOD2,missense_variant,p.Ser530Pro,ENST00000300589,;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,downstream_gene_variant,,ENST00000532206,;NOD2,downstream_gene_variant,,ENST00000526417,;NOD2,downstream_gene_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000527052,;NOD2,upstream_gene_variant,,ENST00000534067,;	1693	75	41	SUCCESS
CHD9	80205	.	GRCh37	16	53269131	53269132	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	29	0	ENST00000398510.3:c.2546_2547del	p.Asp849AlafsTer6	p.D849Afs*6	ENST00000398510		849	gAT/g	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS45485.1	2546-2547	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATAGATCAATC	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	.	.	ENSP00000457466	.	11/39	.	.	.	.	.	.	.	.	.	11/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	deletion	CHD9,frameshift_variant,p.Asp849AlafsTer6,ENST00000566029,;CHD9,frameshift_variant,p.Asp375AlafsTer6,ENST00000565803,;CHD9,frameshift_variant,p.Asp849AlafsTer6,ENST00000447540,;CHD9,frameshift_variant,p.Asp849AlafsTer6,ENST00000564845,;CHD9,frameshift_variant,p.Asp849AlafsTer6,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,;CHD9,non_coding_transcript_exon_variant,,ENST00000569225,;	2755-2756	29	47	SUCCESS
C16orf46	123775	.	GRCh37	16	81097428	81097428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	87	0	ENST00000299578.5:c.133C>T	p.Leu45Phe	p.L45F	ENST00000299578	NM_152337.2	45	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS10932.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGAGAAGAC	NONE	.	.	Pfam_domain:PF15032	.	.	ENSP00000299578	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000299578	Transcript	.	.	ENSG00000166455	26525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CP046_HUMAN	C16orf46	HGNC	H3BQQ0_HUMAN,B4DI50_HUMAN	.	UPI000013E5BE	SNV	C16orf46,missense_variant,p.Leu45Phe,ENST00000378611,;C16orf46,missense_variant,p.Leu45Phe,ENST00000299578,;C16orf46,missense_variant,p.Leu45Phe,ENST00000565253,;C16orf46,intron_variant,,ENST00000444657,;RP11-303E16.8,intron_variant,,ENST00000564536,;	369	87	60	SUCCESS
DNAAF1	123872	.	GRCh37	16	84209627	84209627	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	178	0	ENST00000378553.5:c.1790del	p.Asn597ThrfsTer50	p.N597Tfs*50	ENST00000378553	NM_178452.4	596	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS10943.2	1787	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTGGAAAACC	BUFFER|p.L598L|c.1794C>G|4	.	.	.	.	.	ENSP00000367815	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000378553	Transcript	.	.	ENSG00000154099	30539	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DAAF1_HUMAN	DNAAF1	HGNC	H3BP51_HUMAN	.	UPI000059D3C9	deletion	DNAAF1,frameshift_variant,p.Asn597ThrfsTer50,ENST00000378553,;DNAAF1,frameshift_variant,p.Asn31ThrfsTer50,ENST00000569735,;TAF1C,downstream_gene_variant,,ENST00000568265,;DNAAF1,upstream_gene_variant,,ENST00000564928,;TAF1C,downstream_gene_variant,,ENST00000541676,;TAF1C,downstream_gene_variant,,ENST00000341690,;TAF1C,downstream_gene_variant,,ENST00000566732,;TAF1C,downstream_gene_variant,,ENST00000378541,;TAF1C,downstream_gene_variant,,ENST00000570117,;TAF1C,downstream_gene_variant,,ENST00000567759,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000562024,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,downstream_gene_variant,,ENST00000563093,;TAF1C,downstream_gene_variant,,ENST00000563428,;TAF1C,downstream_gene_variant,,ENST00000564774,;TAF1C,downstream_gene_variant,,ENST00000564208,;TAF1C,downstream_gene_variant,,ENST00000566903,;TAF1C,downstream_gene_variant,,ENST00000544090,;	1911	178	117	SUCCESS
ADAD2	161931	.	GRCh37	16	84229287	84229287	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs547168217	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	28	1	ENST00000315906.5:c.1036G>A	p.Ala346Thr	p.A346T	ENST00000315906	NM_001145400.1	346	Gcg/Acg	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS10944.1	1282	SOMATICSNIPER|VARSCANS	.	AGGGCGCGGCC	NONE	by1000G	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	A:0.001	.	ENSP00000268624	A:0	7/11	.	.	.	.	.	.	.	.	rs547168217	7/11	PASS	ENST00000268624	Transcript	.	A:0.0002	ENSG00000140955	30714	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.946)	A:0	deleterious(0.03)	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,missense_variant,p.Ala346Thr,ENST00000315906,;ADAD2,missense_variant,p.Ala255Thr,ENST00000567685,;ADAD2,missense_variant,p.Ala428Thr,ENST00000268624,;RP11-486L19.2,intron_variant,,ENST00000569834,;RP11-486L19.2,intron_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,downstream_gene_variant,,ENST00000564169,;	1375	29	19	SUCCESS
SLC47A1	55244	.	GRCh37	17	19445791	19445791	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	138	0	ENST00000270570.4:c.221T>G	p.Val74Gly	p.V74G	ENST00000270570	NM_018242.2	74	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS11209.1	221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTCACGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF73,Pfam_domain:PF01554,TIGRFAM_domain:TIGR00797	.	.	ENSP00000270570	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000270570	Transcript	.	.	ENSG00000142494	25588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S47A1_HUMAN	SLC47A1	HGNC	B4E3B2_HUMAN,B4DPA7_HUMAN	.	UPI0000071042	SNV	SLC47A1,missense_variant,p.Val74Gly,ENST00000436810,;SLC47A1,missense_variant,p.Val74Gly,ENST00000270570,;SLC47A1,missense_variant,p.Val74Gly,ENST00000395585,;SLC47A1,missense_variant,p.Val74Gly,ENST00000457293,;SLC47A1,missense_variant,p.Val74Gly,ENST00000542886,;SLC47A1,missense_variant,p.Val74Gly,ENST00000575023,;SLC47A1,5_prime_UTR_variant,,ENST00000571335,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000584348,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000576095,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000497548,;	307	138	83	SUCCESS
SRR	63826	.	GRCh37	17	2227109	2227109	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	14	129	0	ENST00000344595.5:c.965C>G	p.Ser322Cys	p.S322C	ENST00000344595	NM_021947.1	322	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS11017.1	965	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCATAA	NONE	.	.	hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF36,Gene3D:3.40.50.1100	.	.	ENSP00000339435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000344595	Transcript	.	.	ENSG00000167720	14398	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	deleterious(0.02)	.	SRR_HUMAN	SRR	HGNC	Q8N3F4_HUMAN,Q3ZK31_HUMAN,I3L4W4_HUMAN,I3L4L3_HUMAN,I3L3N0_HUMAN	.	UPI00000015D7	SNV	SRR,missense_variant,p.Ser96Cys,ENST00000576848,;SRR,missense_variant,p.Ser322Cys,ENST00000344595,;TSR1,3_prime_UTR_variant,,ENST00000301364,;SRR,downstream_gene_variant,,ENST00000570662,;SRR,downstream_gene_variant,,ENST00000576620,;SRR,downstream_gene_variant,,ENST00000574987,;TSR1,downstream_gene_variant,,ENST00000575049,;	1283	129	108	SUCCESS
AC006435.1	0	.	GRCh37	17	2310348	2310348	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs757005343	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	98	0	ENST00000609667.1:c.424A>T	p.Ile142Phe	p.I142F	ENST00000609667		142	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	.	424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATGCAGT	NONE	.	.	.	.	.	ENSP00000476359	.	3/3	.	.	.	.	.	.	.	.	rs757005343	3/3	PASS	ENST00000609667	Transcript	.	.	ENSG00000205821	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	AC006435.1	Clone_based_ensembl_gene	Q4G0H6_HUMAN	.	UPI0000160EE0	SNV	AC006435.1,missense_variant,p.Ile142Phe,ENST00000609667,;METTL16,non_coding_transcript_exon_variant,,ENST00000381977,;METTL16,non_coding_transcript_exon_variant,,ENST00000571332,;	504	98	65	SUCCESS
LYRM9	201229	.	GRCh37	17	26209980	26209980	+	intron_variant	Intron	SNP	G	G	A	rs73267188	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	62	117	0	ENST00000379102.3:c.-18-242C>T		p.*6*	ENST00000379102				0	.	A:0.0091	.	A:0.0014	.	A	.	protein_coding	YES	CCDS45631.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGTCTTC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000368397	A:0	2/5	.	.	.	.	.	.	.	.	rs73267188	2/5	PASS	ENST00000379103	Transcript	.	A:0.0026	ENSG00000232859	27314	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LYRM9_HUMAN	LYRM9	HGNC	J3QLB4_HUMAN	.	UPI00002014C2	SNV	LYRM9,5_prime_UTR_variant,,ENST00000379103,;LYRM9,5_prime_UTR_variant,,ENST00000508816,;LYRM9,intron_variant,,ENST00000460380,;LYRM9,intron_variant,,ENST00000379102,;RP1-66C13.4,intron_variant,,ENST00000582441,;LYRM9,intron_variant,,ENST00000508862,;LYRM9,intron_variant,,ENST00000503642,;RP11-138P22.1,downstream_gene_variant,,ENST00000581901,;	256	117	158	SUCCESS
UTP6	55813	.	GRCh37	17	30190389	30190389	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	117	0	ENST00000261708.4:c.1783G>C	p.Gly595Arg	p.G595R	ENST00000261708	NM_018428.2	595	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS11269.1	1783	MUTECT|MUSE	.	ATGGCCAGTCT	NONE	.	.	hmmpanther:PTHR23271	.	.	ENSP00000261708	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000261708	Transcript	.	.	ENSG00000108651	18279	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	UTP6_HUMAN	UTP6	HGNC	Q9P1J8_HUMAN,B3KX32_HUMAN	.	UPI0000049FB3	SNV	UTP6,missense_variant,p.Gly595Arg,ENST00000261708,;UTP6,3_prime_UTR_variant,,ENST00000581012,;UTP6,3_prime_UTR_variant,,ENST00000579459,;COPRS,upstream_gene_variant,,ENST00000378634,;COPRS,upstream_gene_variant,,ENST00000302362,;COPRS,upstream_gene_variant,,ENST00000579741,;UTP6,non_coding_transcript_exon_variant,,ENST00000484661,;UTP6,non_coding_transcript_exon_variant,,ENST00000477128,;COPRS,upstream_gene_variant,,ENST00000579984,;COPRS,upstream_gene_variant,,ENST00000496655,;	1921	117	90	SUCCESS
GFAP	2670	.	GRCh37	17	42988813	42988813	+	synonymous_variant	Silent	SNP	C	C	T	rs1232753133	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	26	0	ENST00000253408.5:c.918G>A	p.Leu306=	p.L306=	ENST00000253408	NM_002055.4	306	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS59296.1	918	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCTCCAGGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF41,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000468500	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000586793	Transcript	.	.	ENSG00000131095	4235	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GFAP_HUMAN	GFAP	HGNC	K7EKD1_HUMAN,K7EJK1_HUMAN,A7REI1_HUMAN	.	UPI0000680AD5	SNV	GFAP,synonymous_variant,p.%3D,ENST00000587997,;GFAP,synonymous_variant,p.%3D,ENST00000253408,;GFAP,synonymous_variant,p.%3D,ENST00000435360,;GFAP,synonymous_variant,p.%3D,ENST00000586793,;GFAP,intron_variant,,ENST00000592320,;GFAP,intron_variant,,ENST00000588735,;GFAP,downstream_gene_variant,,ENST00000586127,;GFAP,downstream_gene_variant,,ENST00000588316,;GFAP,downstream_gene_variant,,ENST00000588957,;GFAP,upstream_gene_variant,,ENST00000591880,;GFAP,downstream_gene_variant,,ENST00000593179,;GFAP,upstream_gene_variant,,ENST00000586125,;GFAP,downstream_gene_variant,,ENST00000588037,;GFAP,non_coding_transcript_exon_variant,,ENST00000591719,;GFAP,non_coding_transcript_exon_variant,,ENST00000588640,;GFAP,upstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000591327,;GFAP,upstream_gene_variant,,ENST00000592065,;GFAP,3_prime_UTR_variant,,ENST00000376990,;GFAP,non_coding_transcript_exon_variant,,ENST00000585543,;GFAP,downstream_gene_variant,,ENST00000585728,;GFAP,upstream_gene_variant,,ENST00000589701,;GFAP,downstream_gene_variant,,ENST00000590922,;	926	26	18	SUCCESS
COL1A1	1277	.	GRCh37	17	48264129	48264129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	121	0	ENST00000225964.5:c.3686T>A	p.Leu1229His	p.L1229H	ENST00000225964	NM_000088.3	1229	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11561.1	3686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGAGGTCA	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,SMART_domains:SM00038	.	.	ENSP00000225964	.	48/51	.	.	.	.	.	.	.	.	.	48/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,missense_variant,p.Leu1229His,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000476387,;	3805	121	77	SUCCESS
ABCC3	8714	.	GRCh37	17	48735797	48735797	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	rs1597848102	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	42	169	1	ENST00000285238.8:c.614A>C	p.Asn205Thr	p.N205T	ENST00000285238	NM_003786.3	205	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS32681.1	614	RADIA|VARSCANS	.	CTAGAACCCCT	NONE	.	.	hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957	.	.	ENSP00000285238	.	6/31	.	.	.	.	.	.	.	.	COSM3519367,COSM3519368	6/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.756)	.	deleterious(0)	1,1	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Asn205Thr,ENST00000427699,;ABCC3,missense_variant,p.Asn205Thr,ENST00000285238,;ABCC3,upstream_gene_variant,,ENST00000513589,;ABCC3,missense_variant,p.Asn205Thr,ENST00000502426,;ABCC3,missense_variant,p.Asn23Thr,ENST00000515585,;ABCC3,missense_variant,p.Asn205Thr,ENST00000505699,;ABCC3,splice_region_variant,,ENST00000513511,;ABCC3,upstream_gene_variant,,ENST00000571855,;	694	170	151	SUCCESS
DDX42	11325	.	GRCh37	17	61864631	61864631	+	splice_donor_variant	Splice_Site	DEL	G	G	-	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	18	103	0	ENST00000389924.2:c.221+1del		p.X74_splice	ENST00000389924	NM_203499.2	74		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32704.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATGCGTAAGT	NONE	.	.	.	.	.	ENSP00000464050	.	.	.	.	.	.	.	.	.	.	COSM1203263	.	PASS	ENST00000578681	Transcript	.	.	ENSG00000198231	18676	.	.	HIGH	3/18	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	DDX42_HUMAN	DDX42	HGNC	J3QRI2_HUMAN,B3KMI4_HUMAN	.	UPI000017DA3D	deletion	DDX42,splice_donor_variant,,ENST00000578681,;DDX42,splice_donor_variant,,ENST00000583590,;DDX42,splice_donor_variant,,ENST00000457800,;DDX42,splice_donor_variant,,ENST00000389924,;DDX42,splice_donor_variant,,ENST00000581135,;DDX42,intron_variant,,ENST00000359353,;DDX42,splice_donor_variant,,ENST00000580108,;DDX42,splice_donor_variant,,ENST00000578137,;	.	103	96	SUCCESS
AIPL1	23746	.	GRCh37	17	6328940	6328940	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770159814	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	20	0	ENST00000381129.3:c.995C>G	p.Thr332Arg	p.T332R	ENST00000381129	NM_014336.3	332	aCg/aGg	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS11075.1	995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGTGGCA	NONE	.	.	hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000370521	.	6/6	.	.	.	.	.	.	.	.	rs770159814	6/6	PASS	ENST00000381129	Transcript	.	.	ENSG00000129221	359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.38)	.	AIPL1_HUMAN	AIPL1	HGNC	F1T0C0_HUMAN,F1T0B6_HUMAN	.	UPI0000125741	SNV	AIPL1,missense_variant,p.Thr320Arg,ENST00000574506,;AIPL1,missense_variant,p.Thr332Arg,ENST00000381129,;AIPL1,missense_variant,p.Thr308Arg,ENST00000576776,;AIPL1,missense_variant,p.Thr310Arg,ENST00000570466,;AIPL1,missense_variant,p.Thr269Arg,ENST00000250087,;AIPL1,missense_variant,p.Thr272Arg,ENST00000576307,;AIPL1,3_prime_UTR_variant,,ENST00000575265,;AIPL1,intron_variant,,ENST00000570584,;AIPL1,downstream_gene_variant,,ENST00000574913,;AIPL1,downstream_gene_variant,,ENST00000571740,;AIPL1,3_prime_UTR_variant,,ENST00000381128,;	1076	20	18	SUCCESS
FASN	2194	.	GRCh37	17	80040959	80040959	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	77	0	ENST00000306749.2:c.5598G>A	p.Lys1866=	p.K1866=	ENST00000306749	NM_004104.4	1866	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS11801.1	5598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCTTCAG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227	.	.	ENSP00000304592	.	33/43	.	.	.	.	.	.	.	.	.	33/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,non_coding_transcript_exon_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5817	77	67	SUCCESS
LAMA3	3909	.	GRCh37	18	21441703	21441703	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1179634465	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	110	0	ENST00000313654.9:c.4516C>A	p.Leu1506Ile	p.L1506I	ENST00000313654	NM_198129.1	1506	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS42419.1	4516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATCTCCAG	NONE	.	.	PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259	.	.	ENSP00000324532	.	35/75	.	.	.	.	.	.	.	.	.	35/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Leu1506Ile,ENST00000313654,;LAMA3,missense_variant,p.Leu1506Ile,ENST00000399516,;	4757	110	125	SUCCESS
HOOK2	29911	.	GRCh37	19	12886218	12886218	+	splice_donor_variant	Splice_Site	DEL	C	C	-	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	94	0	ENST00000397668.3:c.45+1del		p.X15_splice	ENST00000397668	NM_013312.2	15		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS42508.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCTACCCAGG	NONE	.	.	.	.	.	ENSP00000380785	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397668	Transcript	.	.	ENSG00000095066	19885	.	.	HIGH	1/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HOOK2_HUMAN	HOOK2	HGNC	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN	.	UPI00003D0BC0	deletion	HOOK2,splice_donor_variant,,ENST00000587178,;HOOK2,splice_donor_variant,,ENST00000397668,;HOOK2,splice_donor_variant,,ENST00000264827,;HOOK2,intron_variant,,ENST00000589400,;HOOK2,intron_variant,,ENST00000592079,;HOOK2,intron_variant,,ENST00000590839,;HOOK2,upstream_gene_variant,,ENST00000588052,;HOOK2,upstream_gene_variant,,ENST00000587964,;HOOK2,splice_donor_variant,,ENST00000589965,;HOOK2,intron_variant,,ENST00000589765,;HOOK2,splice_donor_variant,,ENST00000586284,;HOOK2,splice_donor_variant,,ENST00000592808,;HOOK2,splice_donor_variant,,ENST00000589134,;HOOK2,intron_variant,,ENST00000586719,;HOOK2,intron_variant,,ENST00000592512,;HOOK2,intron_variant,,ENST00000591251,;HOOK2,intron_variant,,ENST00000591641,;HOOK2,intron_variant,,ENST00000593143,;HOOK2,upstream_gene_variant,,ENST00000586188,;	.	94	103	SUCCESS
COLGALT1	79709	.	GRCh37	19	17691557	17691557	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	86	0	ENST00000252599.4:c.1444C>T	p.Pro482Ser	p.P482S	ENST00000252599	NM_024656.2	482	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12363.1	1444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCCTCGC	NONE	.	.	hmmpanther:PTHR10730:SF10,hmmpanther:PTHR10730,Pfam_domain:PF01755	.	.	ENSP00000252599	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000252599	Transcript	.	.	ENSG00000130309	26182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.11)	.	GT251_HUMAN	COLGALT1	HGNC	Q8WUI9_HUMAN,M0QYH0_HUMAN,B3KQ10_HUMAN	.	UPI000003B0F7	SNV	COLGALT1,missense_variant,p.Pro482Ser,ENST00000252599,;COLGALT1,missense_variant,p.Pro200Ser,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000593832,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000597075,;	1564	86	60	SUCCESS
KLHL26	55295	.	GRCh37	19	18779891	18779891	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	108	1	ENST00000300976.4:c.1684T>G	p.Tyr562Asp	p.Y562D	ENST00000300976	NM_018316.1	562	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS12384.1	1684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCTACATC	NONE	.	.	hmmpanther:PTHR24412:SF56,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000300976	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000300976	Transcript	.	.	ENSG00000167487	25623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	KLH26_HUMAN	KLHL26	HGNC	.	.	UPI0000071AC2	SNV	KLHL26,missense_variant,p.Tyr562Asp,ENST00000300976,;KLHL26,intron_variant,,ENST00000599006,;KLHL26,downstream_gene_variant,,ENST00000595182,;KLHL26,downstream_gene_variant,,ENST00000595423,;KLHL26,downstream_gene_variant,,ENST00000596843,;KLHL26,downstream_gene_variant,,ENST00000600657,;	1774	109	57	SUCCESS
APLP1	333	.	GRCh37	19	36363455	36363455	+	synonymous_variant	Silent	SNP	C	C	T	rs751432524	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	146	0	ENST00000221891.4:c.921C>T	p.His307=	p.H307=	ENST00000221891	NM_001024807.1	307	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS32997.1	921	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCACGAGGG	NONE	byFrequency	.	hmmpanther:PTHR23103:SF13,hmmpanther:PTHR23103,Pfam_domain:PF12925,Superfamily_domains:0043391,Prints_domain:PR00203	.	.	ENSP00000221891	.	7/17	.	.	.	.	.	.	.	.	rs751432524	7/17	PASS	ENST00000221891	Transcript	.	.	ENSG00000105290	597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APLP1_HUMAN	APLP1	HGNC	K7EQJ4_HUMAN,K7ELK0_HUMAN,A4UCT6_HUMAN	.	UPI000020215E	SNV	APLP1,synonymous_variant,p.%3D,ENST00000592316,;APLP1,synonymous_variant,p.%3D,ENST00000221891,;APLP1,synonymous_variant,p.%3D,ENST00000586861,;APLP1,synonymous_variant,p.%3D,ENST00000537454,;APLP1,downstream_gene_variant,,ENST00000589743,;APLP1,upstream_gene_variant,,ENST00000587274,;APLP1,upstream_gene_variant,,ENST00000588808,;NPHS1,upstream_gene_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000589298,;APLP1,3_prime_UTR_variant,,ENST00000590561,;	1113	146	111	SUCCESS
CGB5	93659	.	GRCh37	19	49547419	49547419	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs755636942	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	42	242	0	ENST00000301408.6:c.-48A>G		p.*16*	ENST00000301408	NM_033043.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAACCCC	NONE	.	.	.	.	.	ENSP00000301408	.	1/3	.	.	.	.	.	.	.	.	rs755636942	1/3	PASS	ENST00000301408	Transcript	.	.	ENSG00000189052	16452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB5	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB5,5_prime_UTR_variant,,ENST00000301408,;CGB1,intron_variant,,ENST00000391869,;CGB8,downstream_gene_variant,,ENST00000448456,;CGB8,downstream_gene_variant,,ENST00000355414,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;	279	242	118	SUCCESS
ZNF816	125893	.	GRCh37	19	53453569	53453569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	63	0	ENST00000357666.4:c.1459G>T	p.Gly487Cys	p.G487C	ENST00000357666	NM_001031665.2	487	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33096.1	1459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCACATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF236,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350295	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000357666	Transcript	.	.	ENSG00000180257	26995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ZN816_HUMAN	ZNF816	HGNC	I3L0H5_HUMAN	.	UPI0000251D78	SNV	ZNF816,missense_variant,p.Gly487Cys,ENST00000444460,;ZNF816,missense_variant,p.Gly487Cys,ENST00000357666,;ZNF816,intron_variant,,ENST00000434371,;ZNF321P,intron_variant,,ENST00000391777,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,;	1760	63	45	SUCCESS
MIR524	574478	.	GRCh37	19	54214331	54214331	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	148	0	ENST00000385242.1:n.76T>C		p.*26*	ENST00000385242				0	.	.	.	.	.	C	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTTACGGT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385242	Transcript	.	.	ENSG00000207977	32110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR524	HGNC	.	.	.	SNV	MIR524,non_coding_transcript_exon_variant,,ENST00000385242,;MIR517A,upstream_gene_variant,,ENST00000385001,;MIR518C,downstream_gene_variant,,ENST00000384822,;MIR520C,downstream_gene_variant,,ENST00000385005,;MIR519D,upstream_gene_variant,,ENST00000385246,;MIR526A1,downstream_gene_variant,,ENST00000384897,;	76	148	78	SUCCESS
ZNF471	57573	.	GRCh37	19	57036179	57036179	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	73	0	ENST00000308031.5:c.743A>G	p.His248Arg	p.H248R	ENST00000308031	NM_020813.2	248	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS12945.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACACCTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF212,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000309161	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000308031	Transcript	.	.	ENSG00000196263	23226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.03)	.	ZN471_HUMAN	ZNF471	HGNC	K7EPX1_HUMAN	.	UPI0000073465	SNV	ZNF471,missense_variant,p.Thr108Ala,ENST00000591537,;ZNF471,missense_variant,p.His248Arg,ENST00000308031,;ZNF471,intron_variant,,ENST00000593197,;	876	73	69	SUCCESS
ZNF17	7565	.	GRCh37	19	57931234	57931234	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	8	175	0	ENST00000601808.1:c.374T>G	p.Leu125Arg	p.L125R	ENST00000601808	NM_006959.2	125	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	.	410	MUTECT|MUSE	.	GAAGCTCACCA	NONE	.	.	hmmpanther:PTHR24402:SF166,hmmpanther:PTHR24402	.	.	ENSP00000472277	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596400	Transcript	.	.	ENSG00000269533	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.615)	.	tolerated(0.12)	.	.	AC003002.6	Clone_based_vega_gene	M0R233_HUMAN	.	UPI0002A476BC	SNV	AC003002.6,missense_variant,p.Leu137Arg,ENST00000596400,;ZNF17,missense_variant,p.Leu127Arg,ENST00000307658,;ZNF17,missense_variant,p.Leu125Arg,ENST00000601808,;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,non_coding_transcript_exon_variant,,ENST00000595206,;ZNF17,downstream_gene_variant,,ENST00000599867,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;ZNF17,downstream_gene_variant,,ENST00000595162,;	502	175	142	SUCCESS
BCL9	607	.	GRCh37	1	147086412	147086412	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	57	150	0	ENST00000234739.3:c.557A>G	p.Asn186Ser	p.N186S	ENST00000234739	NM_004326.3	186	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS30833.1	557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAATAAGT	NONE	.	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5	.	.	ENSP00000234739	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000234739	Transcript	.	.	ENSG00000116128	1008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	BCL9_HUMAN	BCL9	HGNC	.	.	UPI000013C9B9	SNV	BCL9,missense_variant,p.Asn186Ser,ENST00000234739,;BCL9,non_coding_transcript_exon_variant,,ENST00000473292,;BCL9,downstream_gene_variant,,ENST00000497938,;	1297	150	162	SUCCESS
FCRL1	115350	.	GRCh37	1	157768011	157768011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	8	73	0	ENST00000368176.3:c.1054C>A	p.Gln352Lys	p.Q352K	ENST00000368176	NM_001159398.1	352	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1170.1	1054	MUTECT|MUSE	.	CTCTTGGGGTA	NONE	.	.	hmmpanther:PTHR11481:SF56,hmmpanther:PTHR11481	.	.	ENSP00000357158	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000368176	Transcript	.	.	ENSG00000163534	18509	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.643)	.	deleterious(0.02)	.	FCRL1_HUMAN	FCRL1	HGNC	.	.	UPI000006E5BD	SNV	FCRL1,missense_variant,p.Gln352Lys,ENST00000368176,;FCRL1,missense_variant,p.Gln352Lys,ENST00000491942,;FCRL1,missense_variant,p.Gln313Lys,ENST00000358292,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,upstream_gene_variant,,ENST00000495126,;	1122	73	160	SUCCESS
CD1C	911	.	GRCh37	1	158262506	158262506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	199	22	97	1	ENST00000368170.3:c.731A>T	p.Gln244Leu	p.Q244L	ENST00000368170	NM_001765.2	244	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS1175.1	731	RADIA|MUTECT|MUSE|VARSCANS	.	TGAACAGGAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000357152	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368170	Transcript	.	.	ENSG00000158481	1636	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.875)	.	deleterious(0)	.	CD1C_HUMAN	CD1C	HGNC	B4DP91_HUMAN	.	UPI000013DF78	SNV	CD1C,missense_variant,p.Gln244Leu,ENST00000368170,;CD1C,missense_variant,p.Gln179Leu,ENST00000443761,;	1010	98	221	SUCCESS
SPTA1	6708	.	GRCh37	1	158614175	158614175	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs774133420	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	39	68	0	ENST00000368147.4:c.4206del	p.Asn1403ThrfsTer16	p.N1403Tfs*16	ENST00000368147	NM_003126.2	1402	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS41423.1	4206	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGTTCCCCTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	30/52	.	.	.	.	.	.	.	.	rs774133420	30/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	deletion	SPTA1,frameshift_variant,p.Asn1403ThrfsTer16,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000465741,;	4387	68	188	SUCCESS
MNDA	4332	.	GRCh37	1	158813151	158813151	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	58	166	0	ENST00000368141.4:c.348C>T	p.Pro116=	p.P116=	ENST00000368141	NM_002432.1	116	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1177.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCACCGC	BUFFER|p.A118T|c.352G>A|3	.	.	hmmpanther:PTHR12200:SF18,hmmpanther:PTHR12200	.	.	ENSP00000357123	.	3/7	.	.	.	.	.	.	.	.	COSM676030	3/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,synonymous_variant,p.%3D,ENST00000368141,;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;	609	166	286	SUCCESS
TAGLN2	8407	.	GRCh37	1	159888612	159888612	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	73	131	0	ENST00000320307.4:c.578G>A	p.Gly193Glu	p.G193E	ENST00000320307	NM_001277223.1	193	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS1189.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCCGTAG	NONE	.	.	PROSITE_profiles:PS51122,hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF44,PROSITE_patterns:PS01052,Pfam_domain:PF00402,Superfamily_domains:SSF47576	.	.	ENSP00000357077	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000368097	Transcript	.	.	ENSG00000158710	11554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	deleterious(0.03)	.	TAGL2_HUMAN	TAGLN2	HGNC	.	.	UPI000013687B	SNV	TAGLN2,missense_variant,p.Gly193Glu,ENST00000368097,;TAGLN2,missense_variant,p.Gly214Glu,ENST00000368096,;TAGLN2,missense_variant,p.Gly193Glu,ENST00000320307,;TAGLN2,downstream_gene_variant,,ENST00000397334,;TAGLN2,non_coding_transcript_exon_variant,,ENST00000478033,;	889	131	114	SUCCESS
BRINP2	57795	.	GRCh37	1	177245347	177245347	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	25	136	0	ENST00000361539.4:c.789G>A	p.Leu263=	p.L263=	ENST00000361539	NM_021165.2	263	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1320.1	789	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTGCTGCC	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564,SMART_domains:SM00457	.	.	ENSP00000354481	.	6/8	.	.	.	.	.	.	.	.	COSM1336557	6/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,synonymous_variant,p.%3D,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	1101	136	226	SUCCESS
ARHGEF10L	55160	.	GRCh37	1	17942498	17942498	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	5	244	0	ENST00000361221.3:c.727-91C>G		p.*243*	ENST00000361221	NM_018125.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS182.1	.	MUTECT|MUSE	.	GATCTCTGCAG	NONE	.	.	.	.	.	ENSP00000355060	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361221	Transcript	.	.	ENSG00000074964	25540	.	.	MODIFIER	8/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARGAL_HUMAN	ARHGEF10L	HGNC	.	.	UPI00003664EA	SNV	ARHGEF10L,intron_variant,,ENST00000375415,;ARHGEF10L,intron_variant,,ENST00000375420,;ARHGEF10L,intron_variant,,ENST00000361221,;ARHGEF10L,intron_variant,,ENST00000434513,;ARHGEF10L,intron_variant,,ENST00000452522,;ARHGEF10L,upstream_gene_variant,,ENST00000375408,;ARHGEF10L,upstream_gene_variant,,ENST00000167825,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;	.	244	127	SUCCESS
SMG7	9887	.	GRCh37	1	183515162	183515162	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs776257580	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	41	122	1	ENST00000347615.2:c.2432G>T	p.Gly811Val	p.G811V	ENST00000347615	NM_173156.2	811	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41445.2	2294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGGGAAAA	NONE	.	.	hmmpanther:PTHR15696:SF0,hmmpanther:PTHR15696	.	.	ENSP00000425133	.	17/23	.	.	.	.	.	.	.	.	rs776257580	17/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	tolerated_low_confidence(0.05)	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,missense_variant,p.Gly723Val,ENST00000419169,;SMG7,missense_variant,p.Gly794Val,ENST00000367537,;SMG7,missense_variant,p.Gly765Val,ENST00000507469,;SMG7,missense_variant,p.Gly811Val,ENST00000347615,;SMG7,missense_variant,p.Gly723Val,ENST00000456731,;SMG7,missense_variant,p.Gly769Val,ENST00000508461,;SMG7,missense_variant,p.Gly765Val,ENST00000515829,;SMG7,upstream_gene_variant,,ENST00000495321,;SMG7,upstream_gene_variant,,ENST00000493045,;	2412	123	211	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186948508	186948508	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	71	163	0	ENST00000367466.3:c.2022A>G	p.Pro674=	p.P674=	ENST00000367466	NM_024420.2	674	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1372.1	2022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCAGAATC	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF01735,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	17/18	.	.	.	.	.	.	.	.	COSM1262329	17/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,synonymous_variant,p.%3D,ENST00000442353,;PLA2G4A,synonymous_variant,p.%3D,ENST00000367466,;	2174	163	150	SUCCESS
AKR7A2	8574	.	GRCh37	1	19634996	19634996	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	149	0	ENST00000235835.3:c.439A>G	p.Thr147Ala	p.T147A	ENST00000235835	NM_003689.3	147	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS194.1	439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGTGCCGT	NONE	.	.	Superfamily_domains:SSF51430,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF157,hmmpanther:PTHR11732	.	.	ENSP00000235835	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000235835	Transcript	.	.	ENSG00000053371	389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	deleterious(0.02)	.	ARK72_HUMAN	AKR7A2	HGNC	.	.	UPI00001D965B	SNV	AKR7A2,missense_variant,p.Thr75Ala,ENST00000489286,;AKR7A2,missense_variant,p.Thr137Ala,ENST00000330072,;AKR7A2,missense_variant,p.Thr147Ala,ENST00000235835,;PQLC2,upstream_gene_variant,,ENST00000375153,;PQLC2,upstream_gene_variant,,ENST00000375155,;PQLC2,upstream_gene_variant,,ENST00000400548,;RNU6-1099P,upstream_gene_variant,,ENST00000363533,;AKR7A2,missense_variant,p.Thr2Ala,ENST00000481966,;AKR7A2,non_coding_transcript_exon_variant,,ENST00000492217,;PQLC2,upstream_gene_variant,,ENST00000469076,;PQLC2,upstream_gene_variant,,ENST00000497827,;	461	149	99	SUCCESS
ADORA1	134	.	GRCh37	1	203134729	203134729	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	44	180	1	ENST00000309502.3:c.682A>G	p.Lys228Glu	p.K228E	ENST00000309502		228	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS1434.1	682	RADIA|VARSCANS	.	ATGGGAAGGAG	NONE	.	.	Prints_domain:PR00424,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24246:SF1,hmmpanther:PTHR24246,PROSITE_profiles:PS50262	.	.	ENSP00000356205	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367236	Transcript	.	.	ENSG00000163485	262	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AA1R_HUMAN	ADORA1	HGNC	.	.	UPI00000503E1	SNV	ADORA1,missense_variant,p.Lys228Glu,ENST00000367236,;ADORA1,missense_variant,p.Lys228Glu,ENST00000309502,;ADORA1,missense_variant,p.Lys228Glu,ENST00000337894,;ADORA1,3_prime_UTR_variant,,ENST00000367235,;MYBPH,downstream_gene_variant,,ENST00000255416,;ADORA1,non_coding_transcript_exon_variant,,ENST00000467253,;ADORA1,non_coding_transcript_exon_variant,,ENST00000472535,;ADORA1,non_coding_transcript_exon_variant,,ENST00000464019,;	1603	181	161	SUCCESS
IRF6	3664	.	GRCh37	1	209964204	209964204	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	7	100	0	ENST00000367021.3:c.696C>G	p.Tyr232Ter	p.Y232*	ENST00000367021	NM_006147.3	232	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS1492.1	696	MUTECT|MUSE	.	CCACGGTACTG	NONE	.	.	hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF9,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	.	.	ENSP00000355988	.	7/9	.	.	.	.	.	.	.	.	COSM298458	7/9	PASS	ENST00000367021	Transcript	.	.	ENSG00000117595	6121	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	IRF6_HUMAN	IRF6	HGNC	G0Z349_HUMAN,B1AJU4_HUMAN	.	UPI000012D88D	SNV	IRF6,stop_gained,p.Tyr137Ter,ENST00000542854,;IRF6,stop_gained,p.Tyr232Ter,ENST00000456314,;IRF6,stop_gained,p.Tyr232Ter,ENST00000367021,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,non_coding_transcript_exon_variant,,ENST00000464698,;	869	100	162	SUCCESS
SERTAD4	56256	.	GRCh37	1	210412874	210412874	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	198	8	183	0	ENST00000367012.3:c.212C>T	p.Thr71Ile	p.T71I	ENST00000367012	NM_019605.3	71	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS1494.1	212	MUTECT|MUSE	.	AACAACATCCA	NONE	.	.	hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3	.	.	ENSP00000355979	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.299)	.	deleterious(0.02)	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,missense_variant,p.Thr71Ile,ENST00000367012,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000482421,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000483884,;	442	183	206	SUCCESS
KCNK2	3776	.	GRCh37	1	215408294	215408294	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	36	56	0	ENST00000444842.2:c.1087C>T	p.Arg363Trp	p.R363W	ENST00000444842	NM_014217.3	363	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS41467.1	1087	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGCGGAAG	NONE	.	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21	.	.	ENSP00000394033	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000444842	Transcript	.	.	ENSG00000082482	6277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNK2_HUMAN	KCNK2	HGNC	C9JXY2_HUMAN,C9JDK1_HUMAN	.	UPI000013D4B8	SNV	KCNK2,missense_variant,p.Arg363Trp,ENST00000444842,;KCNK2,missense_variant,p.Arg359Trp,ENST00000391895,;KCNK2,missense_variant,p.Arg348Trp,ENST00000391894,;KCNK2,3_prime_UTR_variant,,ENST00000474771,;KCNK2,3_prime_UTR_variant,,ENST00000486921,;KCNK2,3_prime_UTR_variant,,ENST00000467031,;	1237	56	131	SUCCESS
ZBTB18	10472	.	GRCh37	1	244214662	244214662	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	53	0	ENST00000358704.4:c.-72G>C		p.*24*	ENST00000358704	NM_205768.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1622.1	.	MUTECT|MUSE	.	TCTTAGTCTGC	NONE	.	.	.	.	.	ENSP00000351539	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,5_prime_UTR_variant,,ENST00000358704,;RP11-278H7.1,downstream_gene_variant,,ENST00000440494,;	78	53	70	SUCCESS
ADSS	0	.	GRCh37	1	244582115	244582115	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	30	206	0	ENST00000366535.3:c.892A>G	p.Lys298Glu	p.K298E	ENST00000366535	NM_001126.3	298	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS1624.1	892	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTTCACAA	NONE	.	.	HAMAP:MF_00011,HAMAP:MF_03127,hmmpanther:PTHR11846:SF1,hmmpanther:PTHR11846,Gene3D:2v40A03,TIGRFAM_domain:TIGR00184,Pfam_domain:PF00709,SMART_domains:SM00788,Superfamily_domains:SSF52540	.	.	ENSP00000355493	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000366535	Transcript	.	.	ENSG00000035687	292	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PURA2_HUMAN	ADSS	HGNC	.	.	UPI0000132AF5	SNV	ADSS,missense_variant,p.Lys298Glu,ENST00000366535,;ADSS,non_coding_transcript_exon_variant,,ENST00000468215,;ADSS,downstream_gene_variant,,ENST00000462358,;	1209	207	289	SUCCESS
NLRP3	114548	.	GRCh37	1	247587264	247587264	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	269	7	221	0	ENST00000336119.3:c.519C>G	p.Leu173=	p.L173=	ENST00000336119	NM_001127462.2	173	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1632.1	519	MUTECT|MUSE	.	CGTCTCATCAA	NONE	.	.	Pfam_domain:PF14484,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,synonymous_variant,p.%3D,ENST00000366496,;NLRP3,synonymous_variant,p.%3D,ENST00000336119,;NLRP3,synonymous_variant,p.%3D,ENST00000391827,;NLRP3,synonymous_variant,p.%3D,ENST00000366497,;NLRP3,synonymous_variant,p.%3D,ENST00000391828,;NLRP3,synonymous_variant,p.%3D,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	1265	221	276	SUCCESS
NR0B2	8431	.	GRCh37	1	27240341	27240341	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	41	0	ENST00000254227.3:c.91G>A	p.Ala31Thr	p.A31T	ENST00000254227	NM_021969.2	31	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS291.1	91	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCCTTGA	NONE	.	.	hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF0,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000254227	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000254227	Transcript	.	.	ENSG00000131910	7961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.46)	.	NR0B2_HUMAN	NR0B2	HGNC	.	.	UPI0000135956	SNV	NR0B2,missense_variant,p.Ala31Thr,ENST00000254227,;NUDC,intron_variant,,ENST00000435827,;	117	41	29	SUCCESS
KIAA1522	57648	.	GRCh37	1	33236026	33236026	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	27	0	ENST00000373480.1:c.1069T>C	p.Trp357Arg	p.W357R	ENST00000373480	NM_001198972.1	357	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS41298.1	1246	MUTECT|MUSE	.	ACACCTGGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF6	.	.	ENSP00000383851	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000401073	Transcript	.	.	ENSG00000162522	29301	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.07)	.	K1522_HUMAN	KIAA1522	HGNC	.	.	UPI000022ACD0	SNV	KIAA1522,missense_variant,p.Trp368Arg,ENST00000373481,;KIAA1522,missense_variant,p.Trp357Arg,ENST00000373480,;KIAA1522,missense_variant,p.Trp416Arg,ENST00000401073,;KIAA1522,intron_variant,,ENST00000294521,;YARS,downstream_gene_variant,,ENST00000373477,;YARS,downstream_gene_variant,,ENST00000469100,;YARS,downstream_gene_variant,,ENST00000490826,;KIAA1522,downstream_gene_variant,,ENST00000468130,;	1316	27	19	SUCCESS
TP73	7161	.	GRCh37	1	3649427	3649427	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754779678	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	32	0	ENST00000378295.4:c.1695C>A	p.Asn565Lys	p.N565K	ENST00000378295	NM_005427.3	565	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS49.1	1695	MUTECT|MUSE	.	AGCAACGCGGC	NONE	.	.	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF21	.	.	ENSP00000367545	.	14/14	.	.	.	.	.	.	.	.	rs754779678	14/14	PASS	ENST00000378295	Transcript	.	.	ENSG00000078900	12003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	P73_HUMAN	TP73	HGNC	B7Z3B4_HUMAN	.	UPI000002E988	SNV	TP73,missense_variant,p.Asn516Lys,ENST00000378288,;TP73,missense_variant,p.Asn469Lys,ENST00000604479,;TP73,missense_variant,p.Asn484Lys,ENST00000603362,;TP73,missense_variant,p.Asn469Lys,ENST00000346387,;TP73,missense_variant,p.Asn565Lys,ENST00000378295,;TP73,missense_variant,p.Asn484Lys,ENST00000357733,;TP73,missense_variant,p.Asn494Lys,ENST00000378290,;TP73,3_prime_UTR_variant,,ENST00000604074,;TP73,3_prime_UTR_variant,,ENST00000354437,;TP73,3_prime_UTR_variant,,ENST00000378285,;TP73,3_prime_UTR_variant,,ENST00000378280,;TP73-AS1,downstream_gene_variant,,ENST00000418088,;TP73-AS1,downstream_gene_variant,,ENST00000419973,;TP73-AS1,downstream_gene_variant,,ENST00000452079,;TP73-AS1,downstream_gene_variant,,ENST00000423764,;TP73,non_coding_transcript_exon_variant,,ENST00000604566,;TP73,downstream_gene_variant,,ENST00000603364,;	1850	32	17	SUCCESS
CEP104	9731	.	GRCh37	1	3750533	3750533	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	136	0	ENST00000378230.3:c.1552A>T	p.Ser518Cys	p.S518C	ENST00000378230	NM_014704.3	518	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS30571.1	1552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACTCAGTT	BUFFER|p.H515R|c.1544A>G|3	.	.	hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000367476	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000378230	Transcript	.	.	ENSG00000116198	24866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	deleterious(0)	.	CE104_HUMAN	CEP104	HGNC	.	.	UPI0000139AA8	SNV	CEP104,missense_variant,p.Ser518Cys,ENST00000378230,;CEP104,upstream_gene_variant,,ENST00000438539,;CEP104,downstream_gene_variant,,ENST00000443466,;CEP104,upstream_gene_variant,,ENST00000461667,;CEP104,non_coding_transcript_exon_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000494653,;CEP104,upstream_gene_variant,,ENST00000495701,;	1877	136	85	SUCCESS
MAGOH	4116	.	GRCh37	1	53704200	53704200	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	143	0	ENST00000371470.3:c.-80C>T		p.*27*	ENST00000371470	NM_002370.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS577.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTGCGGCGGC	NONE	.	.	.	.	.	ENSP00000360525	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371470	Transcript	.	.	ENSG00000162385	6815	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGN_HUMAN	MAGOH	HGNC	F5H6P7_HUMAN	.	UPI0000022F39	SNV	MAGOH,5_prime_UTR_variant,,ENST00000371470,;MAGOH,upstream_gene_variant,,ENST00000371466,;RP5-1024G6.8,downstream_gene_variant,,ENST00000602943,;RP5-1024G6.5,upstream_gene_variant,,ENST00000458151,;MAGOH,upstream_gene_variant,,ENST00000462941,;MAGOH,upstream_gene_variant,,ENST00000495868,;	83	143	120	SUCCESS
ANGPTL3	27329	.	GRCh37	1	63063267	63063267	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	47	0	ENST00000371129.3:c.30T>A	p.Ile10=	p.I10=	ENST00000371129	NM_014495.3	10	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS622.1	30	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATTGTTCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18	.	.	ENSP00000360170	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000371129	Transcript	.	.	ENSG00000132855	491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGL3_HUMAN	ANGPTL3	HGNC	B1ALJ0_HUMAN	.	UPI000003722C	SNV	ANGPTL3,synonymous_variant,p.%3D,ENST00000371129,;DOCK7,intron_variant,,ENST00000404627,;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000340370,;ANGPTL3,upstream_gene_variant,,ENST00000482591,;ANGPTL3,upstream_gene_variant,,ENST00000493994,;	110	47	41	SUCCESS
CLCA1	1179	.	GRCh37	1	86964423	86964423	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	24	118	0	ENST00000234701.3:c.2282C>T	p.Ala761Val	p.A761V	ENST00000234701		761	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS709.1	2282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCGGAAA	BUFFER|p.D758N|c.2272G>A|3	.	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	.	.	ENSP00000234701	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000234701	Transcript	.	.	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	tolerated(0.06)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Ala761Val,ENST00000234701,;CLCA1,missense_variant,p.Ala761Val,ENST00000394711,;	2633	118	118	SUCCESS
PTPRA	5786	.	GRCh37	20	3002002	3002002	+	synonymous_variant	Silent	SNP	G	G	A	rs1568702000	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	70	241	0	ENST00000380393.3:c.1089G>A	p.Gly363=	p.G363=	ENST00000380393	NM_002836.3	363	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13038.1	1089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGGAATAT	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	.	.	ENSP00000369756	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000380393	Transcript	.	.	ENSG00000132670	9664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRA_HUMAN	PTPRA	HGNC	Q5JWG3_HUMAN,Q5JWG2_HUMAN	.	UPI000007155E	SNV	PTPRA,synonymous_variant,p.%3D,ENST00000216877,;PTPRA,synonymous_variant,p.%3D,ENST00000356147,;PTPRA,synonymous_variant,p.%3D,ENST00000425918,;PTPRA,synonymous_variant,p.%3D,ENST00000399903,;PTPRA,synonymous_variant,p.%3D,ENST00000380393,;PTPRA,synonymous_variant,p.%3D,ENST00000358719,;PTPRA,synonymous_variant,p.%3D,ENST00000318266,;	1775	241	193	SUCCESS
OSBPL2	9885	.	GRCh37	20	60831214	60831214	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	156	0	ENST00000313733.3:c.-27G>C		p.*9*	ENST00000313733	NM_144498.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13495.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAGGGGCA	NONE	.	.	.	.	.	ENSP00000316649	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000313733	Transcript	1	.	ENSG00000130703	15761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL2_HUMAN	OSBPL2	HGNC	H0Y7X4_HUMAN	.	UPI0000130E96	SNV	OSBPL2,5_prime_UTR_variant,,ENST00000358053,;OSBPL2,5_prime_UTR_variant,,ENST00000313733,;OSBPL2,5_prime_UTR_variant,,ENST00000439951,;	176	157	70	SUCCESS
OSBPL2	9885	.	GRCh37	20	60831215	60831215	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	157	0	ENST00000313733.3:c.-26G>T		p.*9*	ENST00000313733	NM_144498.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13495.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGGGCAG	NONE	.	.	.	.	.	ENSP00000316649	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000313733	Transcript	1	.	ENSG00000130703	15761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL2_HUMAN	OSBPL2	HGNC	H0Y7X4_HUMAN	.	UPI0000130E96	SNV	OSBPL2,5_prime_UTR_variant,,ENST00000358053,;OSBPL2,5_prime_UTR_variant,,ENST00000313733,;OSBPL2,5_prime_UTR_variant,,ENST00000439951,;	177	157	71	SUCCESS
ITSN1	6453	.	GRCh37	21	35169914	35169914	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	54	172	1	ENST00000381318.3:c.2182+2T>C		p.X728_splice	ENST00000381318	NM_003024.2	728		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33545.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTATTAG	NONE	.	.	.	.	.	ENSP00000370719	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	HIGH	18/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,splice_donor_variant,,ENST00000381285,;ITSN1,splice_donor_variant,,ENST00000399353,;ITSN1,splice_donor_variant,,ENST00000399349,;ITSN1,splice_donor_variant,,ENST00000399352,;ITSN1,splice_donor_variant,,ENST00000381318,;ITSN1,splice_donor_variant,,ENST00000399338,;ITSN1,splice_donor_variant,,ENST00000399326,;ITSN1,splice_donor_variant,,ENST00000399355,;ITSN1,splice_donor_variant,,ENST00000381291,;ITSN1,splice_donor_variant,,ENST00000399367,;ITSN1,splice_donor_variant,,ENST00000437442,;ITSN1,splice_donor_variant,,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,upstream_gene_variant,,ENST00000440794,;ITSN1,splice_donor_variant,,ENST00000419241,;	.	173	140	SUCCESS
PRDM15	63977	.	GRCh37	21	43221871	43221871	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	27	243	0	ENST00000269844.3:c.4053C>T	p.Thr1351=	p.T1351=	ENST00000269844	NM_022115.3	1351	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13676.1	4053	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGGTCAC	NONE	.	.	.	.	.	ENSP00000269844	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,synonymous_variant,p.%3D,ENST00000269844,;PRDM15,synonymous_variant,p.%3D,ENST00000422911,;PRDM15,synonymous_variant,p.%3D,ENST00000398548,;PRDM15,synonymous_variant,p.%3D,ENST00000447207,;PRDM15,synonymous_variant,p.%3D,ENST00000538201,;PRDM15,non_coding_transcript_exon_variant,,ENST00000465955,;PRDM15,non_coding_transcript_exon_variant,,ENST00000470586,;PRDM15,non_coding_transcript_exon_variant,,ENST00000477633,;PRDM15,downstream_gene_variant,,ENST00000495217,;PRDM15,synonymous_variant,p.%3D,ENST00000433067,;PRDM15,synonymous_variant,p.%3D,ENST00000447016,;PRDM15,3_prime_UTR_variant,,ENST00000449395,;PRDM15,3_prime_UTR_variant,,ENST00000441787,;PRDM15,non_coding_transcript_exon_variant,,ENST00000486812,;	4164	243	164	SUCCESS
COL18A1	80781	.	GRCh37	21	46888317	46888317	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778941505	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	33	200	0	ENST00000359759.4:c.1513C>T	p.Arg505Cys	p.R505C	ENST00000359759		505	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS42972.1	808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCGTGAC	NONE	byFrequency	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390,Pfam_domain:PF13385,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000347665	.	2/41	.	.	.	.	.	.	.	.	rs778941505	2/41	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	SNV	COL18A1,missense_variant,p.Arg505Cys,ENST00000359759,;COL18A1,missense_variant,p.Arg270Cys,ENST00000355480,;COL18A1,missense_variant,p.Arg90Cys,ENST00000400337,;	850	200	110	SUCCESS
ADORA2A	135	.	GRCh37	22	24837383	24837383	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201827862	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	54	209	0	ENST00000337539.7:c.1165G>A	p.Glu389Lys	p.E389K	ENST00000337539	NM_001278499.1	389	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13826.1	1165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGAGCTC	NONE	.	.	.	.	.	ENSP00000336630	.	3/3	.	.	.	.	.	.	.	.	rs201827862	3/3	PASS	ENST00000337539	Transcript	.	.	ENSG00000128271	263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	deleterious_low_confidence(0.05)	.	AA2AR_HUMAN	ADORA2A	HGNC	S4R429_HUMAN,S4R3A7_HUMAN,S4R2Z8_HUMAN,C9JQD8_HUMAN,C9JFS2_HUMAN,C9J3T2_HUMAN,C9J0Z4_HUMAN,B4DW87_HUMAN	.	UPI00000503E2	SNV	ADORA2A,missense_variant,p.Glu389Lys,ENST00000337539,;ADORA2A,downstream_gene_variant,,ENST00000444262,;ADORA2A-AS1,intron_variant,,ENST00000326341,;ADORA2A-AS1,intron_variant,,ENST00000427813,;ADORA2A-AS1,intron_variant,,ENST00000543438,;ADORA2A,downstream_gene_variant,,ENST00000496497,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;	1624	209	145	SUCCESS
BPIFC	254240	.	GRCh37	22	32810334	32810335	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	174	22	176	0	ENST00000300399.3:c.1479dup	p.Leu494SerfsTer35	p.L494Sfs*35	ENST00000300399	NM_174932.2	493	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS13906.1	1479-1480	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTCAGACCTT	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF17	.	.	ENSP00000380594	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000397452	Transcript	.	.	ENSG00000184459	16503	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BPIFC_HUMAN	BPIFC	HGNC	F5H3G0_HUMAN	.	UPI0000071B53	insertion	BPIFC,frameshift_variant,p.Leu218SerfsTer?,ENST00000534972,;BPIFC,frameshift_variant,p.Leu251SerfsTer?,ENST00000432451,;BPIFC,frameshift_variant,p.Leu494SerfsTer35,ENST00000397452,;BPIFC,frameshift_variant,p.Leu494SerfsTer35,ENST00000300399,;RTCB,upstream_gene_variant,,ENST00000216038,;RTCB,upstream_gene_variant,,ENST00000451746,;RTCB,upstream_gene_variant,,ENST00000463455,;RTCB,upstream_gene_variant,,ENST00000487704,;	1590-1591	176	196	SUCCESS
CARD10	29775	.	GRCh37	22	37905071	37905071	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	258	10	273	0	ENST00000251973.5:c.910-382C>T		p.*304*	ENST00000251973	NM_014550.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13948.1	.	MUTECT|MUSE	.	GACTAGGGGTC	NONE	.	.	.	.	.	ENSP00000384570	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403299	Transcript	.	.	ENSG00000100065	16422	.	.	MODIFIER	5/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAR10_HUMAN	CARD10	HGNC	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN	.	UPI0000044645	SNV	CARD10,5_prime_UTR_variant,,ENST00000406271,;CARD10,intron_variant,,ENST00000437756,;CARD10,intron_variant,,ENST00000251973,;CARD10,intron_variant,,ENST00000403299,;CARD10,upstream_gene_variant,,ENST00000433485,;CARD10,intron_variant,,ENST00000494166,;CARD10,intron_variant,,ENST00000476871,;	.	273	268	SUCCESS
LDOC1L	0	.	GRCh37	22	44893045	44893045	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	56	0	ENST00000341255.3:c.392C>T	p.Pro131Leu	p.P131L	ENST00000341255	NM_032287.2	131	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33662.1	392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGGGAAG	NONE	.	.	hmmpanther:PTHR15503:SF5,hmmpanther:PTHR15503	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,missense_variant,p.Pro131Leu,ENST00000341255,;	902	56	50	SUCCESS
SBF1	6305	.	GRCh37	22	50886721	50886721	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	51	126	1	ENST00000380817.3:c.5304T>A	p.Ala1768=	p.A1768=	ENST00000380817	NM_002972.2	1768	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14091.2	5304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCAGCCTG	NONE	.	.	hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Superfamily_domains:SSF50729	.	.	ENSP00000370196	.	38/41	.	.	.	.	.	.	.	.	.	38/41	PASS	ENST00000380817	Transcript	.	.	ENSG00000100241	10542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMR5_HUMAN	SBF1	HGNC	Q86TK5_HUMAN	.	UPI00001D69ED	SNV	SBF1,synonymous_variant,p.%3D,ENST00000418590,;SBF1,synonymous_variant,p.%3D,ENST00000390679,;SBF1,synonymous_variant,p.%3D,ENST00000348911,;SBF1,synonymous_variant,p.%3D,ENST00000380817,;PPP6R2,downstream_gene_variant,,ENST00000395741,;PPP6R2,downstream_gene_variant,,ENST00000359139,;PPP6R2,downstream_gene_variant,,ENST00000401672,;PPP6R2,downstream_gene_variant,,ENST00000427222,;PPP6R2,downstream_gene_variant,,ENST00000395744,;PPP6R2,downstream_gene_variant,,ENST00000216061,;SBF1,non_coding_transcript_exon_variant,,ENST00000470434,;PPP6R2,downstream_gene_variant,,ENST00000470046,;SBF1,upstream_gene_variant,,ENST00000473724,;	5488	127	76	SUCCESS
PQLC3	0	.	GRCh37	2	11300640	11300640	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	193	0	ENST00000295083.3:c.192G>C	p.Leu64=	p.L64=	ENST00000295083	NM_152391.3	64	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1679.1	192	MUTECT|MUSE	.	CCGCTGACCTA	NONE	.	.	hmmpanther:PTHR12226,hmmpanther:PTHR12226:SF3,PIRSF_domain:PIRSF023381	.	.	ENSP00000295083	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000295083	Transcript	.	.	ENSG00000162976	28503	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PQLC3_HUMAN	PQLC3	HGNC	.	.	UPI0000070DA0	SNV	PQLC3,synonymous_variant,p.%3D,ENST00000428481,;PQLC3,synonymous_variant,p.%3D,ENST00000445402,;PQLC3,synonymous_variant,p.%3D,ENST00000295083,;PQLC3,synonymous_variant,p.%3D,ENST00000441908,;PQLC3,synonymous_variant,p.%3D,ENST00000402361,;PQLC3,non_coding_transcript_exon_variant,,ENST00000476787,;PQLC3,synonymous_variant,p.%3D,ENST00000445921,;PQLC3,non_coding_transcript_exon_variant,,ENST00000496444,;PQLC3,non_coding_transcript_exon_variant,,ENST00000464700,;	367	193	116	SUCCESS
IL36A	27179	.	GRCh37	2	113763592	113763592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	110	0	ENST00000259211.6:c.52A>G	p.Ile18Val	p.I18V	ENST00000259211	NM_014440.1	18	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS42734.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATATCAAT	NONE	.	.	hmmpanther:PTHR10078:SF14,hmmpanther:PTHR10078,Gene3D:2.80.10.50,SMART_domains:SM00125,Superfamily_domains:SSF50353	.	.	ENSP00000259211	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000259211	Transcript	.	.	ENSG00000136694	15562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.24)	.	IL36A_HUMAN	IL36A	HGNC	.	.	UPI000003C9C1	SNV	IL36A,missense_variant,p.Ile18Val,ENST00000259211,;	463	110	89	SUCCESS
BAZ2B	29994	.	GRCh37	2	160287506	160287506	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	7	110	0	ENST00000392783.2:c.2062G>C	p.Gly688Arg	p.G688R	ENST00000392783	NM_013450.2	688	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS2209.2	2062	MUTECT|MUSE	.	GTGACCTGTGA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144	.	.	ENSP00000376534	.	10/37	.	.	.	.	.	.	.	.	.	10/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Gly688Arg,ENST00000355831,;BAZ2B,missense_variant,p.Gly686Arg,ENST00000392782,;BAZ2B,missense_variant,p.Gly688Arg,ENST00000392783,;BAZ2B,intron_variant,,ENST00000441143,;BAZ2B,intron_variant,,ENST00000343439,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000472953,;	2558	110	117	SUCCESS
TTN	7273	.	GRCh37	2	179590290	179590290	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	52	0	ENST00000591111.1:c.19690del	p.Gln6564SerfsTer14	p.Q6564Sfs*14	ENST00000591111		6564	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS59435.1	20641	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGGCTGGGCGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	71/363	.	.	.	.	.	.	.	.	.	71/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	deletion	TTN,frameshift_variant,p.Gln5637SerfsTer14,ENST00000342992,;TTN,frameshift_variant,p.Gln6564SerfsTer14,ENST00000591111,;TTN,frameshift_variant,p.Gln6881SerfsTer14,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;	20866	52	42	SUCCESS
UNC80	285175	.	GRCh37	2	210824368	210824368	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	70	1	ENST00000439458.1:c.7544A>G	p.Gln2515Arg	p.Q2515R	ENST00000439458	NM_032504.1	2515	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS46504.1	7544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCAAAATC	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	50/64	.	.	.	.	.	.	.	.	.	50/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Gln2515Arg,ENST00000439458,;UNC80,missense_variant,p.Gln2510Arg,ENST00000272845,;UNC80,missense_variant,p.Gln41Arg,ENST00000333907,;UNC80,upstream_gene_variant,,ENST00000539183,;UNC80,upstream_gene_variant,,ENST00000477924,;UNC80,downstream_gene_variant,,ENST00000481494,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	7624	71	85	SUCCESS
SLC4A3	6508	.	GRCh37	2	220503556	220503556	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	127	0	ENST00000317151.3:c.2988C>A	p.Val996=	p.V996=	ENST00000317151		996	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2446.1	3069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTCCTCAT	NONE	.	.	TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000362867	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,synonymous_variant,p.%3D,ENST00000373760,;SLC4A3,synonymous_variant,p.%3D,ENST00000273063,;SLC4A3,synonymous_variant,p.%3D,ENST00000317151,;SLC4A3,synonymous_variant,p.%3D,ENST00000358055,;SLC4A3,synonymous_variant,p.%3D,ENST00000373762,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,downstream_gene_variant,,ENST00000416910,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	3338	127	75	SUCCESS
FARP2	9855	.	GRCh37	2	242430491	242430491	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	68	386	1	ENST00000264042.3:c.2520A>G	p.Lys840=	p.K840=	ENST00000264042	NM_014808.2	840	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS33424.1	2520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAGAGAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000264042	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000264042	Transcript	.	.	ENSG00000006607	16460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FARP2_HUMAN	FARP2	HGNC	C9JWM9_HUMAN,C9JVQ5_HUMAN	.	UPI0000073D5B	SNV	FARP2,synonymous_variant,p.%3D,ENST00000444371,;FARP2,synonymous_variant,p.%3D,ENST00000264042,;STK25,downstream_gene_variant,,ENST00000401869,;STK25,downstream_gene_variant,,ENST00000535007,;STK25,downstream_gene_variant,,ENST00000543554,;STK25,downstream_gene_variant,,ENST00000405585,;STK25,downstream_gene_variant,,ENST00000403346,;FARP2,upstream_gene_variant,,ENST00000412332,;STK25,downstream_gene_variant,,ENST00000316586,;STK25,downstream_gene_variant,,ENST00000405883,;STK25,downstream_gene_variant,,ENST00000472181,;STK25,downstream_gene_variant,,ENST00000478403,;STK25,downstream_gene_variant,,ENST00000470438,;FARP2,downstream_gene_variant,,ENST00000491425,;FARP2,non_coding_transcript_exon_variant,,ENST00000486736,;FARP2,non_coding_transcript_exon_variant,,ENST00000470617,;STK25,downstream_gene_variant,,ENST00000487962,;STK25,downstream_gene_variant,,ENST00000494699,;STK25,downstream_gene_variant,,ENST00000465009,;	2690	387	219	SUCCESS
DTNB	1838	.	GRCh37	2	25606755	25606755	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	4	169	0	ENST00000406818.3:c.1829A>G	p.Glu610Gly	p.E610G	ENST00000406818	NM_001256303.1	610	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS46237.1	1829	MUTECT|MUSE	.	CTTCCTCTGCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204	.	.	ENSP00000384084	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000406818	Transcript	.	.	ENSG00000138101	3058	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.04)	.	DTNB_HUMAN	DTNB	HGNC	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN	.	UPI0000129949	SNV	DTNB,missense_variant,p.Glu573Gly,ENST00000407186,;DTNB,missense_variant,p.Glu610Gly,ENST00000406818,;DTNB,missense_variant,p.Glu543Gly,ENST00000405222,;DTNB,missense_variant,p.Glu580Gly,ENST00000404103,;DTNB,missense_variant,p.Glu580Gly,ENST00000288642,;DTNB,missense_variant,p.Glu550Gly,ENST00000407038,;DTNB,missense_variant,p.Glu399Gly,ENST00000545439,;DTNB,intron_variant,,ENST00000496972,;DTNB,intron_variant,,ENST00000407661,;DTNB,intron_variant,,ENST00000497476,;DTNB,downstream_gene_variant,,ENST00000481841,;DTNB,non_coding_transcript_exon_variant,,ENST00000489949,;DTNB,intron_variant,,ENST00000398951,;DTNB,intron_variant,,ENST00000356599,;DTNB,downstream_gene_variant,,ENST00000482145,;DTNB,downstream_gene_variant,,ENST00000498437,;DTNB,downstream_gene_variant,,ENST00000479898,;DTNB,upstream_gene_variant,,ENST00000488457,;	2079	169	115	SUCCESS
ATL2	64225	.	GRCh37	2	38525447	38525447	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	68	0	ENST00000378954.4:c.1471C>A	p.Leu491Met	p.L491M	ENST00000378954	NM_001135673.1	491	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS46260.1	1471	MUTECT|MUSE	.	AGTCAGTCCTG	NONE	.	.	hmmpanther:PTHR10751:SF42,hmmpanther:PTHR10751,Transmembrane_helices:TMhelix	.	.	ENSP00000368237	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000378954	Transcript	.	.	ENSG00000119787	24047	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.146)	.	tolerated(0.08)	.	ATLA2_HUMAN	ATL2	HGNC	B7ZA64_HUMAN	.	UPI00001B00A2	SNV	ATL2,missense_variant,p.Leu473Met,ENST00000332337,;ATL2,missense_variant,p.Leu491Met,ENST00000419554,;ATL2,missense_variant,p.Leu320Met,ENST00000539122,;ATL2,missense_variant,p.Leu320Met,ENST00000402054,;ATL2,missense_variant,p.Leu473Met,ENST00000452935,;ATL2,missense_variant,p.Leu320Met,ENST00000406122,;ATL2,missense_variant,p.Leu491Met,ENST00000378954,;ATL2,missense_variant,p.Leu320Met,ENST00000546051,;ATL2,3_prime_UTR_variant,,ENST00000405384,;ATL2,non_coding_transcript_exon_variant,,ENST00000489896,;ATL2,non_coding_transcript_exon_variant,,ENST00000477642,;	1473	68	54	SUCCESS
EPAS1	2034	.	GRCh37	2	46611722	46611722	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	114	1	ENST00000263734.3:c.2536G>T	p.Val846Leu	p.V846L	ENST00000263734	NM_001430.4	846	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1825.1	2536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGTGAAC	NONE	.	.	hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF8,Pfam_domain:PF08778	.	.	ENSP00000263734	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000263734	Transcript	.	.	ENSG00000116016	3374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EPAS1_HUMAN	EPAS1	HGNC	Q53SM6_HUMAN,C9J9N2_HUMAN,B3KW07_HUMAN	.	UPI000013D44F	SNV	EPAS1,missense_variant,p.Val846Leu,ENST00000263734,;EPAS1,downstream_gene_variant,,ENST00000468530,;EPAS1,non_coding_transcript_exon_variant,,ENST00000466465,;EPAS1,downstream_gene_variant,,ENST00000465318,;	3046	116	70	SUCCESS
CNNM4	26504	.	GRCh37	2	97428070	97428070	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772023576	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	71	242	0	ENST00000377075.2:c.1334A>G	p.Tyr445Cys	p.Y445C	ENST00000377075	NM_020184.3	445	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2024.2	1334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTATAACC	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR12064:SF26,hmmpanther:PTHR12064,Gene3D:3.10.580.10,Pfam_domain:PF00571,Superfamily_domains:SSF54631	.	.	ENSP00000366275	.	1/7	.	.	.	.	.	.	.	.	rs772023576	1/7	PASS	ENST00000377075	Transcript	.	.	ENSG00000158158	105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	CNNM4_HUMAN	CNNM4	HGNC	.	.	UPI0000207C95	SNV	CNNM4,missense_variant,p.Tyr445Cys,ENST00000377075,;	1432	242	177	SUCCESS
CPB1	1360	.	GRCh37	3	148552327	148552327	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776463695	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	78	169	0	ENST00000282957.4:c.190C>A	p.His64Asn	p.H64N	ENST00000282957	NM_001871.2	64	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS33874.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCACAGT	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897	.	.	ENSP00000417222	.	4/12	.	.	.	.	.	.	.	.	rs776463695	4/12	PASS	ENST00000491148	Transcript	.	.	ENSG00000153002	2299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	CBPB1_HUMAN	CPB1	HGNC	Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN	.	UPI00001271CD	SNV	CPB1,missense_variant,p.His64Asn,ENST00000468341,;CPB1,missense_variant,p.His64Asn,ENST00000282957,;CPB1,missense_variant,p.His64Asn,ENST00000491148,;CPB1,missense_variant,p.His64Asn,ENST00000462345,;CPB1,downstream_gene_variant,,ENST00000494888,;CPB1,upstream_gene_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	524	169	168	SUCCESS
PEX5L	51555	.	GRCh37	3	179592187	179592187	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	36	0	ENST00000467460.1:c.654A>G	p.Pro218=	p.P218=	ENST00000467460	NM_001256751.1	218	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3236.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTGGTTG	NONE	.	.	hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130	.	.	ENSP00000419975	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000467460	Transcript	.	.	ENSG00000114757	30024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEX5R_HUMAN	PEX5L	HGNC	C9JZE2_HUMAN,C9IZ09_HUMAN	.	UPI0000049CE2	SNV	PEX5L,synonymous_variant,p.%3D,ENST00000491640,;PEX5L,synonymous_variant,p.%3D,ENST00000392649,;PEX5L,synonymous_variant,p.%3D,ENST00000472994,;PEX5L,synonymous_variant,p.%3D,ENST00000464614,;PEX5L,synonymous_variant,p.%3D,ENST00000263962,;PEX5L,synonymous_variant,p.%3D,ENST00000476138,;PEX5L,synonymous_variant,p.%3D,ENST00000485199,;PEX5L,synonymous_variant,p.%3D,ENST00000468741,;PEX5L,synonymous_variant,p.%3D,ENST00000467460,;PEX5L,synonymous_variant,p.%3D,ENST00000496721,;PEX5L,synonymous_variant,p.%3D,ENST00000465751,;PEX5L,downstream_gene_variant,,ENST00000463761,;PEX5L,downstream_gene_variant,,ENST00000469198,;PEX5L-AS1,upstream_gene_variant,,ENST00000466064,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;	985	36	44	SUCCESS
RBMS3	27303	.	GRCh37	3	30032668	30032668	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	77	156	1	ENST00000383767.2:c.1275A>G	p.Glu425=	p.E425=	ENST00000383767		425	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS33724.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGAACATGC	NONE	.	.	.	.	.	ENSP00000373277	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,synonymous_variant,p.%3D,ENST00000434693,;RBMS3,synonymous_variant,p.%3D,ENST00000273139,;RBMS3,synonymous_variant,p.%3D,ENST00000396583,;RBMS3,synonymous_variant,p.%3D,ENST00000383767,;RBMS3,synonymous_variant,p.%3D,ENST00000452462,;RBMS3,synonymous_variant,p.%3D,ENST00000383766,;RBMS3,synonymous_variant,p.%3D,ENST00000456853,;RBMS3,non_coding_transcript_exon_variant,,ENST00000473799,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497274,;AC099048.1,downstream_gene_variant,,ENST00000366459,;	1611	157	184	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	65	151	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	151	204	SUCCESS
CYP8B1	1582	.	GRCh37	3	42916920	42916920	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	35	145	0	ENST00000316161.4:c.389A>T	p.His130Leu	p.H130L	ENST00000316161	NM_004391.2	130	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS2707.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATGCTTG	NONE	.	.	Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	.	.	ENSP00000318867	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316161	Transcript	.	.	ENSG00000180432	2653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious(0.03)	.	CP8B1_HUMAN	CYP8B1	HGNC	.	.	UPI000013FCE2	SNV	CYP8B1,missense_variant,p.His130Leu,ENST00000437102,;CYP8B1,missense_variant,p.His130Leu,ENST00000316161,;KRBOX1,intron_variant,,ENST00000426937,;KRBOX1,intron_variant,,ENST00000451200,;ACKR2,intron_variant,,ENST00000460855,;RP11-141M3.5,intron_variant,,ENST00000471537,;RP11-141M3.5,intron_variant,,ENST00000487368,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;	714	145	121	SUCCESS
CHL1	10752	.	GRCh37	3	439928	439928	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1266012181	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	74	0	ENST00000397491.2:c.3065T>C	p.Ile1022Thr	p.I1022T	ENST00000397491		1022	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS2556.1	3113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATATCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	.	.	ENSP00000256509	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.09)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Ile1022Thr,ENST00000397491,;CHL1,missense_variant,p.Ile1038Thr,ENST00000256509,;CHL1,intron_variant,,ENST00000445697,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	3755	74	60	SUCCESS
SLC38A3	10991	.	GRCh37	3	50251707	50251707	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs767194548	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	189	0	ENST00000420502.1:n.229C>T		p.*77*	ENST00000420502				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTCATCAC	NONE	.	.	.	.	.	.	.	2/16	.	.	.	.	.	.	.	.	rs767194548	2/16	PASS	ENST00000420502	Transcript	.	.	ENSG00000188338	18044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC38A3	HGNC	.	.	.	SNV	SLC38A3,non_coding_transcript_exon_variant,,ENST00000541861,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000427428,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000420502,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000414604,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000445325,;SLC38A3,intron_variant,,ENST00000445096,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000456338,;SLC38A3,upstream_gene_variant,,ENST00000439524,;SLC38A3,upstream_gene_variant,,ENST00000417851,;SLC38A3,upstream_gene_variant,,ENST00000417121,;	229	189	116	SUCCESS
SEC24B	10427	.	GRCh37	4	110442575	110442575	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	116	0	ENST00000265175.5:c.2302-1G>A		p.X768_splice	ENST00000265175	NM_006323.2	768		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47124.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGCTTAT	NONE	.	.	.	.	.	ENSP00000265175	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265175	Transcript	.	.	ENSG00000138802	10704	.	.	HIGH	13/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC24B_HUMAN	SEC24B	HGNC	B4E2E1_HUMAN	.	UPI00004F6ED7	SNV	SEC24B,splice_acceptor_variant,,ENST00000265175,;SEC24B,splice_acceptor_variant,,ENST00000504968,;SEC24B,splice_acceptor_variant,,ENST00000399100,;	.	116	65	SUCCESS
ANKRD50	57182	.	GRCh37	4	125591958	125591958	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	50	132	0	ENST00000504087.1:c.2474G>A	p.Gly825Glu	p.G825E	ENST00000504087	NM_020337.2	825	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS34060.1	2474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCCTTGT	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000425658	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000504087	Transcript	.	.	ENSG00000151458	29223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ANR50_HUMAN	ANKRD50	HGNC	Q8TB46_HUMAN	.	UPI00002377E8	SNV	ANKRD50,missense_variant,p.Gly825Glu,ENST00000504087,;ANKRD50,missense_variant,p.Gly646Glu,ENST00000515641,;	3512	133	257	SUCCESS
MAML3	55534	.	GRCh37	4	141074224	141074224	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	36	0	ENST00000509479.2:c.258G>A	p.Arg86=	p.R86=	ENST00000509479	NM_018717.4	86	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54805.1	258	RADIA|MUSE	.	TGGTGCCGACG	NONE	.	.	hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8,Pfam_domain:PF09596,Gene3D:1.20.58.70	.	.	ENSP00000421180	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000509479	Transcript	.	.	ENSG00000196782	16272	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAML3_HUMAN	MAML3	HGNC	Q9NPV6_HUMAN,E7EVW8_HUMAN	.	UPI00001C1E1E	SNV	MAML3,synonymous_variant,p.%3D,ENST00000509479,;MAML3,upstream_gene_variant,,ENST00000502696,;	1115	36	30	SUCCESS
EDNRA	1909	.	GRCh37	4	148407017	148407017	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	115	243	2	ENST00000324300.5:c.184A>G	p.Asn62Asp	p.N62D	ENST00000324300	NM_001957.3	62	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS3769.1	184	RADIA|SOMATICSNIPER|VARSCANS	.	CCAGCAATGGC	NONE	.	.	hmmpanther:PTHR24243:SF31,hmmpanther:PTHR24243,Superfamily_domains:SSF81321,Prints_domain:PR00570	.	.	ENSP00000315011	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000324300	Transcript	1	.	ENSG00000151617	3179	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.298)	.	tolerated(0.12)	.	EDNRA_HUMAN	EDNRA	HGNC	.	.	UPI00000503F9	SNV	EDNRA,missense_variant,p.Asn62Asp,ENST00000339690,;EDNRA,missense_variant,p.Asn62Asp,ENST00000358556,;EDNRA,missense_variant,p.Asn62Asp,ENST00000324300,;EDNRA,missense_variant,p.Asn62Asp,ENST00000506066,;EDNRA,intron_variant,,ENST00000511804,;EDNRA,non_coding_transcript_exon_variant,,ENST00000514245,;EDNRA,missense_variant,p.Asn62Asp,ENST00000510697,;	699	245	270	SUCCESS
FGA	2243	.	GRCh37	4	155505929	155505929	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	26	0	ENST00000302053.3:c.1948A>G	p.Ile650Val	p.I650V	ENST00000302053	NM_000508.3	650	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS3787.1	1948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGATATTGA	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	.	.	ENSP00000306361	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.05)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Ile650Val,ENST00000302053,;FGA,downstream_gene_variant,,ENST00000403106,;	2027	26	36	SUCCESS
FGG	2266	.	GRCh37	4	155533771	155533771	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	42	96	0	ENST00000336098.3:c.-10C>G		p.*4*	ENST00000336098	NM_021870.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3788.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGTGCCC	NONE	.	.	.	.	.	ENSP00000336829	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000336098	Transcript	1	.	ENSG00000171557	3694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIBG_HUMAN	FGG	HGNC	C9JU00_HUMAN,C9JPQ9_HUMAN	.	UPI000012A78D	SNV	FGG,5_prime_UTR_variant,,ENST00000407946,;FGG,5_prime_UTR_variant,,ENST00000336098,;FGG,5_prime_UTR_variant,,ENST00000404648,;FGG,5_prime_UTR_variant,,ENST00000405164,;FGG,intron_variant,,ENST00000443553,;FGG,intron_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000473393,;FGG,non_coding_transcript_exon_variant,,ENST00000464532,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465336,;FGG,upstream_gene_variant,,ENST00000484695,;FGG,upstream_gene_variant,,ENST00000465913,;	30	96	137	SUCCESS
GUCY1B3	0	.	GRCh37	4	156680263	156680263	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs768646071	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	7	15	0	ENST00000264424.8:c.-30G>A		p.*10*	ENST00000264424	NM_000857.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47154.1	.	RADIA|MUTECT|MUSE	.	TGGGGGCTGCC	NONE	.	.	.	.	.	ENSP00000264424	.	1/14	.	.	.	.	.	.	.	.	rs768646071	1/14	PASS	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,5_prime_UTR_variant,,ENST00000503520,;GUCY1B3,5_prime_UTR_variant,,ENST00000264424,;GUCY1B3,5_prime_UTR_variant,,ENST00000502959,;GUCY1B3,5_prime_UTR_variant,,ENST00000507146,;GUCY1B3,5_prime_UTR_variant,,ENST00000505764,;GUCY1B3,5_prime_UTR_variant,,ENST00000505154,;GUCY1B3,upstream_gene_variant,,ENST00000513437,;	53	15	10	SUCCESS
GUCY1B3	0	.	GRCh37	4	156680264	156680264	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	15	0	ENST00000264424.8:c.-29C>G		p.*10*	ENST00000264424	NM_000857.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47154.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGGGGCTGCCT	NONE	.	.	.	.	.	ENSP00000264424	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,5_prime_UTR_variant,,ENST00000503520,;GUCY1B3,5_prime_UTR_variant,,ENST00000264424,;GUCY1B3,5_prime_UTR_variant,,ENST00000502959,;GUCY1B3,5_prime_UTR_variant,,ENST00000507146,;GUCY1B3,5_prime_UTR_variant,,ENST00000505764,;GUCY1B3,5_prime_UTR_variant,,ENST00000505154,;GUCY1B3,upstream_gene_variant,,ENST00000513437,;	54	15	12	SUCCESS
WDR17	116966	.	GRCh37	4	177067183	177067183	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748882959	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	64	1	ENST00000280190.4:c.1639C>T	p.Arg547Cys	p.R547C	ENST00000280190		547	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3825.1	1639	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	ATGTTCGTGTT	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000280190	.	13/31	.	.	.	.	.	.	.	.	rs748882959,COSM1053387	13/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Arg530Cys,ENST00000507824,;WDR17,missense_variant,p.Arg547Cys,ENST00000280190,;WDR17,missense_variant,p.Arg523Cys,ENST00000508596,;WDR17,missense_variant,p.Arg523Cys,ENST00000393643,;WDR17,upstream_gene_variant,,ENST00000443118,;	1795	66	79	SUCCESS
LGI2	55203	.	GRCh37	4	25005084	25005084	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	71	0	ENST00000382114.4:c.1627T>G	p.Leu543Val	p.L543V	ENST00000382114	NM_018176.3	543	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS3431.1	1627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTAAGTCAA	NONE	.	.	hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367	.	.	ENSP00000371548	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000382114	Transcript	.	.	ENSG00000153012	18710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.81)	.	deleterious(0)	.	LGI2_HUMAN	LGI2	HGNC	.	.	UPI0000047256	SNV	LGI2,missense_variant,p.Leu543Val,ENST00000382114,;LGI2,intron_variant,,ENST00000512108,;	1813	71	42	SUCCESS
EPHA5	2044	.	GRCh37	4	66280067	66280067	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1342407694	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	47	85	1	ENST00000273854.3:c.1622G>A	p.Arg541Gln	p.R541Q	ENST00000273854	NM_004439.5	541	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS3513.1	1622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTCGAATT	BUFFER|p.R541*|c.1621C>T|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014	.	.	ENSP00000273854	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.1)	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,missense_variant,p.Arg541Gln,ENST00000273854,;EPHA5,missense_variant,p.Arg541Gln,ENST00000511294,;EPHA5,missense_variant,p.Arg377Gln,ENST00000432638,;EPHA5,missense_variant,p.Arg541Gln,ENST00000354839,;	2223	86	125	SUCCESS
PCDHB10	56126	.	GRCh37	5	140572647	140572647	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	61	296	0	ENST00000239446.4:c.522C>T	p.Pro174=	p.P174=	ENST00000239446	NM_018930.3	174	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4252.1	522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCAACTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,synonymous_variant,p.%3D,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	706	296	166	SUCCESS
KIAA0141	0	.	GRCh37	5	141313823	141313823	+	synonymous_variant	Silent	SNP	T	T	C	rs754377097	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	42	163	1	ENST00000432126.2:c.916T>C	p.Leu306=	p.L306=	ENST00000432126	NM_014773.3	306	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4268.1	916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGTTGGCT	NONE	.	.	hmmpanther:PTHR11102:SF43,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901	.	.	ENSP00000396225	.	9/12	.	.	.	.	.	.	.	.	rs754377097	9/12	PASS	ENST00000432126	Transcript	.	.	ENSG00000081791	28969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DELE_HUMAN	KIAA0141	HGNC	.	.	UPI0000139350	SNV	KIAA0141,synonymous_variant,p.%3D,ENST00000507481,;KIAA0141,synonymous_variant,p.%3D,ENST00000194118,;KIAA0141,synonymous_variant,p.%3D,ENST00000508751,;KIAA0141,synonymous_variant,p.%3D,ENST00000432126,;KIAA0141,downstream_gene_variant,,ENST00000506775,;KIAA0141,non_coding_transcript_exon_variant,,ENST00000502729,;KIAA0141,upstream_gene_variant,,ENST00000509110,;	1050	164	119	SUCCESS
BASP1	10409	.	GRCh37	5	17275846	17275846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	44	0	ENST00000322611.3:c.521C>A	p.Pro174His	p.P174H	ENST00000322611	NM_006317.4	174	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3888.1	521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCCGGCA	NONE	.	.	hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,missense_variant,p.Pro174His,ENST00000322611,;BASP1,downstream_gene_variant,,ENST00000606445,;	781	44	32	SUCCESS
SIMC1	375484	.	GRCh37	5	175717891	175717891	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	390	238	796	1	ENST00000443967.1:c.1307A>G	p.Tyr436Cys	p.Y436C	ENST00000443967		436	tAc/tGc	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4398.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTACTTCT	NONE	.	.	.	.	.	ENSP00000342075	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341199	Transcript	.	.	ENSG00000170085	24779	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIMC1_HUMAN	SIMC1	HGNC	.	.	UPI00000742BB	SNV	SIMC1,missense_variant,p.Tyr436Cys,ENST00000443967,;SIMC1,missense_variant,p.Tyr455Cys,ENST00000429602,;SIMC1,intron_variant,,ENST00000430704,;SIMC1,intron_variant,,ENST00000341199,;SIMC1,intron_variant,,ENST00000467472,;SIMC1,downstream_gene_variant,,ENST00000508769,;SIMC1,downstream_gene_variant,,ENST00000514128,;SIMC1,downstream_gene_variant,,ENST00000503595,;SIMC1,intron_variant,,ENST00000495423,;	.	797	628	SUCCESS
RAI14	26064	.	GRCh37	5	34824058	34824058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	36	266	0	ENST00000265109.3:c.2111C>T	p.Ser704Phe	p.S704F	ENST00000265109	NM_015577.2	704	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS54839.1	2120	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCTCAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24129	.	.	ENSP00000427123	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.828)	.	deleterious(0.01)	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,missense_variant,p.Ser696Phe,ENST00000506376,;RAI14,missense_variant,p.Ser704Phe,ENST00000265109,;RAI14,missense_variant,p.Ser697Phe,ENST00000397449,;RAI14,missense_variant,p.Ser707Phe,ENST00000515799,;RAI14,missense_variant,p.Ser704Phe,ENST00000428746,;RAI14,missense_variant,p.Ser675Phe,ENST00000512629,;RAI14,missense_variant,p.Ser704Phe,ENST00000503673,;RAI14,upstream_gene_variant,,ENST00000513772,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;	2612	266	227	SUCCESS
NIPBL	25836	.	GRCh37	5	37017238	37017238	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	10	188	0	ENST00000282516.8:c.4894G>C	p.Gly1632Arg	p.G1632R	ENST00000282516	NM_133433.3	1632	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS3920.1	4894	MUTECT|MUSE	.	ATCAAGGATCT	NONE	.	.	hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Superfamily_domains:SSF48371	.	.	ENSP00000282516	.	24/47	.	.	.	.	.	.	.	.	.	24/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.59)	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,missense_variant,p.Gly1632Arg,ENST00000448238,;NIPBL,missense_variant,p.Gly1632Arg,ENST00000282516,;	5393	188	151	SUCCESS
NBPF22P	285622	.	GRCh37	5	85581569	85581569	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	693	84	724	0	ENST00000590707.1:n.589C>T		p.*197*	ENST00000590707				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTCACTGGAT	NONE	.	.	.	.	.	.	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000590707	Transcript	.	.	ENSG00000205449	28731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NBPF22P	HGNC	.	.	.	SNV	NBPF22P,non_coding_transcript_exon_variant,,ENST00000590707,;NBPF22P,non_coding_transcript_exon_variant,,ENST00000508988,;	589	724	777	SUCCESS
RASA1	5921	.	GRCh37	5	86672363	86672363	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	45	0	ENST00000274376.6:c.2165A>C	p.Glu722Ala	p.E722A	ENST00000274376	NM_002890.2	722	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS34200.1	2165	MUTECT|MUSE|VARSCANS	.	AGAAGAGTACA	NONE	.	.	hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350,Superfamily_domains:SSF49562	.	.	ENSP00000274376	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.068)	.	deleterious(0)	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,missense_variant,p.Glu555Ala,ENST00000512763,;RASA1,missense_variant,p.Glu545Ala,ENST00000456692,;RASA1,missense_variant,p.Glu722Ala,ENST00000274376,;RASA1,missense_variant,p.Glu556Ala,ENST00000506290,;CTC-428H11.2,non_coding_transcript_exon_variant,,ENST00000607486,;RASA1,3_prime_UTR_variant,,ENST00000515800,;	2729	45	79	SUCCESS
PHF10	55274	.	GRCh37	6	170112622	170112622	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	119	0	ENST00000339209.4:c.817G>T	p.Glu273Ter	p.E273*	ENST00000339209	NM_133325.2	273	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5308.2	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCATCTG	NONE	.	.	hmmpanther:PTHR10615	.	.	ENSP00000341805	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000339209	Transcript	.	.	ENSG00000130024	18250	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF10_HUMAN	PHF10	HGNC	S5FMB0_HUMAN	.	UPI0000EE1F6E	SNV	PHF10,stop_gained,p.Glu271Ter,ENST00000366780,;PHF10,stop_gained,p.Glu273Ter,ENST00000339209,;PHF10,non_coding_transcript_exon_variant,,ENST00000480008,;	941	119	58	SUCCESS
NELFE	7936	.	GRCh37	6	31926222	31926223	+	frameshift_variant,start_lost,start_retained_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	23	74	0	ENST00000375429.3:c.1dup	p.Met1?	p.M1?	ENST00000375429	NM_002904.5	1	atg/aAtg	0	.	.	.	.	.	T	M/NX	protein_coding	YES	CCDS4730.1	1-2	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAACATGGTG	NONE	.	.	hmmpanther:PTHR17250:SF0,hmmpanther:PTHR17250	.	.	ENSP00000364578	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000375429	Transcript	.	.	ENSG00000204356	13974	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NELFE_HUMAN	NELFE	HGNC	Q9BQJ6_HUMAN,A2ABK4_HUMAN,A2ABK2_HUMAN	.	UPI000000127D	insertion	NELFE,frameshift_variant,p.Met1?,ENST00000436289,;NELFE,frameshift_variant,p.Met8AsnfsTer37,ENST00000375425,;NELFE,frameshift_variant,p.Met1?,ENST00000444811,;NELFE,frameshift_variant,p.Met1?,ENST00000375429,;NELFE,frameshift_variant,p.Met1?,ENST00000426722,;NELFE,frameshift_variant,p.Met1?,ENST00000441998,;NELFE,frameshift_variant,p.Met1?,ENST00000454913,;SKIV2L,upstream_gene_variant,,ENST00000544581,;SKIV2L,upstream_gene_variant,,ENST00000375394,;MIR1236,upstream_gene_variant,,ENST00000408340,;SKIV2L,upstream_gene_variant,,ENST00000488648,;NELFE,frameshift_variant,p.Met1?,ENST00000492539,;NELFE,frameshift_variant,p.Met1?,ENST00000494956,;NELFE,non_coding_transcript_exon_variant,,ENST00000488426,;NELFE,non_coding_transcript_exon_variant,,ENST00000492185,;NELFE,non_coding_transcript_exon_variant,,ENST00000481121,;NELFE,non_coding_transcript_exon_variant,,ENST00000491139,;SKIV2L,upstream_gene_variant,,ENST00000492900,;SKIV2L,upstream_gene_variant,,ENST00000474839,;SKIV2L,upstream_gene_variant,,ENST00000465703,;SKIV2L,upstream_gene_variant,,ENST00000461073,;SKIV2L,upstream_gene_variant,,ENST00000466290,;	228-229	74	109	SUCCESS
TNXB	7148	.	GRCh37	6	32037394	32037394	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	6	53	0	ENST00000375244.3:c.5523G>T	p.Lys1841Asn	p.K1841N	ENST00000375244		1841	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	.	.	5523	MUTECT|MUSE|VARSCANS	.	AGCAGCTTGTA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	.	.	ENSP00000364396	.	15/44	.	.	.	.	.	.	.	.	.	15/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,missense_variant,p.Lys1841Asn,ENST00000375247,;TNXB,missense_variant,p.Lys1841Asn,ENST00000375244,;	5725	53	72	SUCCESS
DUSP22	56940	.	GRCh37	6	348175	348175	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	234	14	275	0	ENST00000344450.5:c.336G>C	p.Glu112Asp	p.E112D	ENST00000344450	NM_020185.3	112	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS4468.1	336	MUTECT|MUSE	.	TGGGAGGATGC	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000345281	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000344450	Transcript	.	.	ENSG00000112679	16077	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.407)	.	tolerated(0.16)	.	DUS22_HUMAN	DUSP22	HGNC	S4R3A4_HUMAN	.	UPI0000036A3C	SNV	DUSP22,missense_variant,p.Glu112Asp,ENST00000419235,;DUSP22,missense_variant,p.Glu9Asp,ENST00000605863,;DUSP22,missense_variant,p.Glu9Asp,ENST00000605315,;DUSP22,missense_variant,p.Glu9Asp,ENST00000603453,;DUSP22,missense_variant,p.Glu112Asp,ENST00000344450,;DUSP22,missense_variant,p.Glu9Asp,ENST00000604971,;DUSP22,missense_variant,p.Glu9Asp,ENST00000605035,;DUSP22,missense_variant,p.Glu69Asp,ENST00000603296,;DUSP22,5_prime_UTR_variant,,ENST00000603881,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603005,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;	779	275	248	SUCCESS
PKHD1	5314	.	GRCh37	6	51907882	51907882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	49	0	ENST00000371117.3:c.2872G>T	p.Asp958Tyr	p.D958Y	ENST00000371117	NM_138694.3	958	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS4935.1	2872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCACCAG	NONE	.	.	Pfam_domain:PF01833,Gene3D:2.60.40.10,Superfamily_domains:SSF81296	.	.	ENSP00000360158	.	27/67	.	.	.	.	.	.	.	.	.	27/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Asp958Tyr,ENST00000340994,;PKHD1,missense_variant,p.Asp958Tyr,ENST00000371117,;	3148	49	126	SUCCESS
RELN	5649	.	GRCh37	7	103179563	103179563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	61	99	0	ENST00000428762.1:c.7142A>G	p.Asp2381Gly	p.D2381G	ENST00000428762	NM_005045.3	2381	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS47680.1	7142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGTCTATC	NONE	.	.	hmmpanther:PTHR11841,Superfamily_domains:SSF50939	.	.	ENSP00000392423	.	45/65	.	.	.	.	.	.	.	.	.	45/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Asp2381Gly,ENST00000424685,;RELN,missense_variant,p.Asp2381Gly,ENST00000428762,;RELN,missense_variant,p.Asp2381Gly,ENST00000343529,;RELN,non_coding_transcript_exon_variant,,ENST00000478148,;	7302	99	135	SUCCESS
DNAH11	8701	.	GRCh37	7	21784074	21784074	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	71	0	ENST00000409508.3:c.8173C>T	p.Pro2725Ser	p.P2725S	ENST00000409508	NM_001277115.1	2725	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	.	8194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCTGAG	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF12775,Superfamily_domains:SSF52540	.	.	ENSP00000330671	.	51/83	.	.	.	.	.	.	.	.	.	51/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,missense_variant,p.Pro2732Ser,ENST00000328843,;DNAH11,missense_variant,p.Pro2725Ser,ENST00000409508,;DNAH11,intron_variant,,ENST00000605912,;	8225	71	72	SUCCESS
CCDC129	0	.	GRCh37	7	31683405	31683405	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	91	99	1	ENST00000451887.2:c.2499C>A	p.Ile833=	p.I833=	ENST00000451887	NM_001257968.1	833	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS59050.1	2499	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,synonymous_variant,p.%3D,ENST00000451887,;CCDC129,synonymous_variant,p.%3D,ENST00000409210,;CCDC129,synonymous_variant,p.%3D,ENST00000319386,;CCDC129,synonymous_variant,p.%3D,ENST00000407970,;	2511	100	178	SUCCESS
NT5C3A	51251	.	GRCh37	7	33057096	33057100	+	frameshift_variant	Frame_Shift_Del	DEL	ATGAT	ATGAT	-	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	ATGAT	ATGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	103	22	141	0	ENST00000242210.7:c.659_663del	p.Tyr220SerfsTer13	p.Y220Sfs*13	ENST00000242210	NM_001002010.2	220	tATCAT/t	0	.	.	.	.	.	-	YH/X	protein_coding	YES	CCDS34616.1	659-663	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGGGATGATAAACA	NONE	.	.	hmmpanther:PTHR13045,TIGRFAM_domain:TIGR01544,Gene3D:3.40.50.1000,Pfam_domain:PF05822,Superfamily_domains:SSF56784	.	.	ENSP00000242210	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000242210	Transcript	.	.	ENSG00000122643	17820	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	5NT3A_HUMAN	NT5C3A	HGNC	C9K084_HUMAN	.	UPI0000037BCB	deletion	NT5C3A,frameshift_variant,p.Tyr181SerfsTer13,ENST00000405342,;NT5C3A,frameshift_variant,p.Tyr169SerfsTer13,ENST00000381626,;NT5C3A,frameshift_variant,p.Tyr169SerfsTer13,ENST00000409467,;NT5C3A,frameshift_variant,p.Tyr181SerfsTer13,ENST00000396152,;NT5C3A,frameshift_variant,p.Tyr181SerfsTer13,ENST00000409787,;NT5C3A,frameshift_variant,p.Tyr215SerfsTer13,ENST00000610140,;NT5C3A,frameshift_variant,p.Tyr220SerfsTer13,ENST00000242210,;AVL9,intron_variant,,ENST00000404479,;NT5C3A,3_prime_UTR_variant,,ENST00000456458,;NT5C3A,upstream_gene_variant,,ENST00000473083,;NT5C3A,downstream_gene_variant,,ENST00000461851,;	736-740	141	125	SUCCESS
C7orf26	79034	.	GRCh37	7	6631388	6631388	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	17	178	0	ENST00000344417.5:c.304C>T	p.Gln102Ter	p.Q102*	ENST00000344417	NM_024067.2	102	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS5353.1	304	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCAAGGG	NONE	.	.	hmmpanther:PTHR14540,Pfam_domain:PF14964	.	.	ENSP00000340220	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000344417	Transcript	.	.	ENSG00000146576	21702	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CG026_HUMAN	C7orf26	HGNC	.	.	UPI000003ED42	SNV	C7orf26,stop_gained,p.Gln102Ter,ENST00000344417,;C7orf26,stop_gained,p.Gln83Ter,ENST00000359073,;ZDHHC4,downstream_gene_variant,,ENST00000396707,;ZDHHC4,downstream_gene_variant,,ENST00000396709,;ZDHHC4,downstream_gene_variant,,ENST00000396706,;ZDHHC4,downstream_gene_variant,,ENST00000335965,;ZDHHC4,downstream_gene_variant,,ENST00000396713,;ZDHHC4,downstream_gene_variant,,ENST00000405731,;AC079742.4,upstream_gene_variant,,ENST00000434951,;C7orf26,non_coding_transcript_exon_variant,,ENST00000472693,;ZDHHC4,downstream_gene_variant,,ENST00000474738,;	571	178	144	SUCCESS
HGF	3082	.	GRCh37	7	81372744	81372744	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	19	79	0	ENST00000222390.5:c.790G>T	p.Asp264Tyr	p.D264Y	ENST00000222390	NM_000601.4	264	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5597.1	790	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCGGGAT	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,PROSITE_patterns:PS00021,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018	.	.	ENSP00000222390	.	7/18	.	.	.	.	.	.	.	.	COSM1755373,COSM351655	7/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	1,1	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Asp259Tyr,ENST00000453411,;HGF,missense_variant,p.Asp259Tyr,ENST00000457544,;HGF,missense_variant,p.Asp264Tyr,ENST00000222390,;HGF,missense_variant,p.Asp264Tyr,ENST00000444829,;	1017	79	161	SUCCESS
PCLO	27445	.	GRCh37	7	82545309	82545309	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	23	0	ENST00000333891.9:c.11993C>T	p.Ala3998Val	p.A3998V	ENST00000333891	NM_033026.5	3998	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47630.1	11993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGCAAAT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ala718Val,ENST00000437081,;PCLO,missense_variant,p.Ala3998Val,ENST00000333891,;PCLO,missense_variant,p.Ala3998Val,ENST00000423517,;	12331	23	47	SUCCESS
KCNQ3	3786	.	GRCh37	8	133153487	133153487	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	49	117	1	ENST00000388996.4:c.1354G>A	p.Ala452Thr	p.A452T	ENST00000388996	NM_004519.3	452	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34943.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCATCTA	NONE	.	.	Pfam_domain:PF03520	.	.	ENSP00000373648	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	tolerated(0.25)	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,missense_variant,p.Ala332Thr,ENST00000521134,;KCNQ3,missense_variant,p.Ala452Thr,ENST00000388996,;KCNQ3,missense_variant,p.Ala452Thr,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	1775	118	207	SUCCESS
BAI1	0	.	GRCh37	8	143623422	143623422	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	10	76	0	ENST00000323289.5:c.3827T>C	p.Phe1276Ser	p.F1276S	ENST00000323289	NM_001702.2	1276	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS64985.1	3827	MUTECT|MUSE|VARSCANS	.	CAATTTCAACA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39	.	.	ENSP00000430945	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.307)	.	deleterious(0)	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,missense_variant,p.Phe1276Ser,ENST00000323289,;BAI1,missense_variant,p.Phe1276Ser,ENST00000517894,;BAI1,3_prime_UTR_variant,,ENST00000521208,;BAI1,upstream_gene_variant,,ENST00000518812,;BAI1,downstream_gene_variant,,ENST00000518820,;	4721	76	112	SUCCESS
CYP11B2	1585	.	GRCh37	8	143996507	143996507	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	398	44	244	0	ENST00000323110.2:c.550C>A	p.Leu184Met	p.L184M	ENST00000323110	NM_000498.3	184	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6393.1	550	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGGCTCC	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.279)	.	tolerated(0.05)	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,missense_variant,p.Leu184Met,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	553	244	442	SUCCESS
NPBWR1	2831	.	GRCh37	8	53853329	53853329	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs141356626	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	35	101	1	ENST00000331251.3:c.862A>T	p.Ile288Phe	p.I288F	ENST00000331251	NM_005285.3	288	Atc/Ttc	0	G:0.0007	.	.	.	.	T	I/F	protein_coding	YES	CCDS6151.1	862	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTATCTCC	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF29,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	G:0	ENSP00000330284	.	1/1	.	.	.	.	.	.	.	.	rs141356626	1/1	PASS	ENST00000331251	Transcript	.	.	ENSG00000183729	4522	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.305)	.	deleterious(0.04)	.	NPBW1_HUMAN	NPBWR1	HGNC	H9NIL7_HUMAN	.	UPI000013EEF3	SNV	NPBWR1,missense_variant,p.Ile288Phe,ENST00000331251,;	2339	103	229	SUCCESS
RP1	6101	.	GRCh37	8	55534004	55534004	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759922849	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	31	86	0	ENST00000220676.1:c.478A>G	p.Arg160Gly	p.R160G	ENST00000220676	NM_006269.1	160	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS6160.1	478	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGGAAT	NONE	.	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs759922849	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.434)	.	deleterious(0)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Arg160Gly,ENST00000220676,;	626	86	208	SUCCESS
TMEM67	91147	.	GRCh37	8	94817076	94817076	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	42	0	ENST00000453321.3:c.2409A>G	p.Glu803=	p.E803=	ENST00000453321	NM_153704.5	803	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS6258.2	2409	MUTECT|MUSE	.	ATGGAAGAAAT	NONE	.	.	hmmpanther:PTHR21274:SF0,hmmpanther:PTHR21274,Pfam_domain:PF09773	.	.	ENSP00000389998	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000453321	Transcript	1	.	ENSG00000164953	28396	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MKS3_HUMAN	TMEM67	HGNC	E5RG10_HUMAN,C9JRQ8_HUMAN	.	UPI0000D624E9	SNV	TMEM67,synonymous_variant,p.%3D,ENST00000409623,;TMEM67,synonymous_variant,p.%3D,ENST00000453321,;TMEM67,synonymous_variant,p.%3D,ENST00000323130,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,non_coding_transcript_exon_variant,,ENST00000519845,;	2467	42	100	SUCCESS
KIAA1429	0	.	GRCh37	8	95523540	95523540	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	21	52	0	ENST00000297591.5:c.3263A>G	p.Asn1088Ser	p.N1088S	ENST00000297591	NM_015496.4	1088	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS34923.1	3263	RADIA|MUTECT|MUSE|VARSCANS	.	TATTATTGGCC	NONE	.	.	hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	.	.	ENSP00000297591	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	tolerated(0.42)	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,missense_variant,p.Asn1088Ser,ENST00000297591,;KIAA1429,missense_variant,p.Asn1088Ser,ENST00000421249,;KIAA1429,missense_variant,p.Asn1088Ser,ENST00000437199,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000523405,;KIAA1429,missense_variant,p.Asn441Ser,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;	3339	52	164	SUCCESS
KIAA1429	0	.	GRCh37	8	95543221	95543221	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	79	42	0	ENST00000297591.5:c.577G>A	p.Asp193Asn	p.D193N	ENST00000297591	NM_015496.4	193	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34923.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCATCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	.	.	ENSP00000297591	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,missense_variant,p.Asp193Asn,ENST00000297591,;KIAA1429,missense_variant,p.Asp193Asn,ENST00000421249,;KIAA1429,missense_variant,p.Asp193Asn,ENST00000437199,;RP11-267M23.3,upstream_gene_variant,,ENST00000521010,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000519001,;KIAA1429,upstream_gene_variant,,ENST00000522263,;	653	42	111	SUCCESS
UQCRB	7381	.	GRCh37	8	97245396	97245396	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs376775585	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	11	34	0	ENST00000287022.5:c.79T>G	p.Phe27Val	p.F27V	ENST00000287022	NM_006294.4	27	Ttc/Gtc	0	C:0	.	.	.	.	C	F/V	protein_coding	YES	CCDS59107.1	79	MUTECT|MUSE|VARSCANS	.	ATTGAATCCTG	NONE	byCluster	.	hmmpanther:PTHR12022,Pfam_domain:PF02271,Gene3D:1.10.1090.10,Superfamily_domains:SSF81524	.	C:0.0001	ENSP00000430494	.	2/5	.	.	.	.	.	.	.	.	rs376775585	2/5	PASS	ENST00000518406	Transcript	1	.	ENSG00000156467	12582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.549)	.	deleterious(0.02)	.	QCR7_HUMAN	UQCRB	HGNC	.	.	UPI0000210352	SNV	UQCRB,missense_variant,p.Phe27Val,ENST00000518406,;UQCRB,missense_variant,p.Phe27Val,ENST00000287022,;UQCRB,missense_variant,p.Phe27Val,ENST00000523920,;UQCRB,5_prime_UTR_variant,,ENST00000517523,;KB-1043D8.6,upstream_gene_variant,,ENST00000520575,;UQCRB,missense_variant,p.Phe27Val,ENST00000521036,;UQCRB,3_prime_UTR_variant,,ENST00000517603,;UQCRB,non_coding_transcript_exon_variant,,ENST00000521948,;UQCRB,non_coding_transcript_exon_variant,,ENST00000519322,;UQCRB,non_coding_transcript_exon_variant,,ENST00000518876,;	88	34	115	SUCCESS
TLR4	7099	.	GRCh37	9	120476662	120476662	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	49	0	ENST00000355622.6:c.2256G>C	p.Glu752Asp	p.E752D	ENST00000355622	NM_138557.2	752	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS6818.1	2256	MUTECT|MUSE	.	TATGAGATTGC	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52200	.	.	ENSP00000363089	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	tolerated(0.3)	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,missense_variant,p.Glu752Asp,ENST00000355622,;TLR4,missense_variant,p.Glu712Asp,ENST00000394487,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;	2357	49	63	SUCCESS
CNTRL	11064	.	GRCh37	9	123937425	123937425	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	62	0	ENST00000238341.5:c.6877G>A	p.Ala2293Thr	p.A2293T	ENST00000238341	NM_007018.4	2293	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS35118.1	6877	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGCAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	.	.	ENSP00000362962	.	43/44	.	.	.	.	.	.	.	.	.	43/44	PASS	ENST00000373855	Transcript	.	.	ENSG00000119397	1858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,missense_variant,p.Ala2293Thr,ENST00000373855,;CNTRL,missense_variant,p.Ala1741Thr,ENST00000373850,;CNTRL,missense_variant,p.Ala2293Thr,ENST00000238341,;RAB14,downstream_gene_variant,,ENST00000373840,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373845,;	7137	63	92	SUCCESS
GOLGA1	2800	.	GRCh37	9	127685398	127685398	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs138655913	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	28	0	ENST00000373555.4:c.537G>T	p.Gln179His	p.Q179H	ENST00000373555	NM_002077.3	179	caG/caT	0	T:0	.	.	.	.	A	Q/H	protein_coding	YES	CCDS6860.1	537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCTGCTG	NONE	byCluster	.	hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF24	.	T:0.0007	ENSP00000362656	.	8/23	.	.	.	.	.	.	.	.	rs138655913	8/23	PASS	ENST00000373555	Transcript	.	.	ENSG00000136935	4424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GOGA1_HUMAN	GOLGA1	HGNC	Q5T165_HUMAN	.	UPI000013D059	SNV	GOLGA1,missense_variant,p.Gln179His,ENST00000373555,;GOLGA1,missense_variant,p.Gln97His,ENST00000475407,;GOLGA1,upstream_gene_variant,,ENST00000485337,;	871	28	30	SUCCESS
PTRH1	138428	.	GRCh37	9	130477961	130477961	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs553236653	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	34	0	ENST00000419060.1:c.-43G>T		p.*15*	ENST00000419060				0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS35147.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACCCCGCA	NONE	by1000G	.	.	T:0	.	ENSP00000418661	T:0	2/6	.	.	.	.	.	.	.	.	rs553236653	2/6	PASS	ENST00000419060	Transcript	.	T:0.0002	ENSG00000187024	27039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	PTH_HUMAN	PTRH1	HGNC	.	.	UPI000000DB98	SNV	PTRH1,5_prime_UTR_variant,,ENST00000423807,;PTRH1,5_prime_UTR_variant,,ENST00000419060,;C9orf117,3_prime_UTR_variant,,ENST00000373293,;C9orf117,downstream_gene_variant,,ENST00000373295,;PTRH1,upstream_gene_variant,,ENST00000543175,;TTC16,upstream_gene_variant,,ENST00000393748,;TTC16,upstream_gene_variant,,ENST00000373289,;C9orf117,non_coding_transcript_exon_variant,,ENST00000464092,;PTRH1,upstream_gene_variant,,ENST00000335223,;TTC16,upstream_gene_variant,,ENST00000488285,;TTC16,upstream_gene_variant,,ENST00000489226,;C9orf117,downstream_gene_variant,,ENST00000461104,;PTRH1,upstream_gene_variant,,ENST00000416214,;PTRH1,upstream_gene_variant,,ENST00000456267,;PTRH1,downstream_gene_variant,,ENST00000429848,;C9orf117,downstream_gene_variant,,ENST00000496009,;PTRH1,upstream_gene_variant,,ENST00000414832,;	1415	34	26	SUCCESS
PPP2R4	0	.	GRCh37	9	131898785	131898785	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	156	0	ENST00000337738.1:c.701A>G	p.Tyr234Cys	p.Y234C	ENST00000337738	NM_178001.2	234	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6920.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATACAGGA	NONE	.	.	hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984	.	.	ENSP00000377036	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,missense_variant,p.Tyr170Cys,ENST00000357197,;PPP2R4,missense_variant,p.Tyr199Cys,ENST00000393370,;PPP2R4,missense_variant,p.Tyr234Cys,ENST00000337738,;PPP2R4,missense_variant,p.Tyr234Cys,ENST00000445241,;PPP2R4,missense_variant,p.Tyr199Cys,ENST00000358994,;PPP2R4,missense_variant,p.Tyr234Cys,ENST00000452489,;PPP2R4,missense_variant,p.Tyr157Cys,ENST00000355007,;PPP2R4,missense_variant,p.Tyr13Cys,ENST00000455240,;PPP2R4,missense_variant,p.Tyr234Cys,ENST00000455292,;PPP2R4,missense_variant,p.Tyr4Cys,ENST00000411917,;PPP2R4,missense_variant,p.Tyr205Cys,ENST00000348141,;PPP2R4,missense_variant,p.Tyr164Cys,ENST00000417728,;PPP2R4,intron_variant,,ENST00000347048,;PPP2R4,downstream_gene_variant,,ENST00000414331,;PPP2R4,upstream_gene_variant,,ENST00000432124,;PPP2R4,upstream_gene_variant,,ENST00000435305,;PPP2R4,upstream_gene_variant,,ENST00000436883,;PPP2R4,upstream_gene_variant,,ENST00000524946,;PPP2R4,upstream_gene_variant,,ENST00000414510,;PPP2R4,downstream_gene_variant,,ENST00000453358,;PPP2R4,downstream_gene_variant,,ENST00000417504,;PPP2R4,upstream_gene_variant,,ENST00000423100,;	879	156	117	SUCCESS
NPR2	4882	.	GRCh37	9	35809218	35809218	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	45	0	ENST00000342694.2:c.3052G>A	p.Glu1018Lys	p.E1018K	ENST00000342694	NM_003995.3	1018	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS6590.1	3052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTAGAGCTT	BUFFER|p.Q1016H|c.3048G>T|3	.	.	hmmpanther:PTHR11920:SF231,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000341083	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000342694	Transcript	.	.	ENSG00000159899	7944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	tolerated(0.06)	.	ANPRB_HUMAN	NPR2	HGNC	.	.	UPI0000125B42	SNV	NPR2,missense_variant,p.Glu1018Lys,ENST00000342694,;SPAG8,intron_variant,,ENST00000340291,;NPR2,intron_variant,,ENST00000447210,;SPAG8,downstream_gene_variant,,ENST00000497810,;HINT2,downstream_gene_variant,,ENST00000259667,;SPAG8,downstream_gene_variant,,ENST00000484764,;NPR2,downstream_gene_variant,,ENST00000421267,;SPAG8,downstream_gene_variant,,ENST00000396638,;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,intron_variant,,ENST00000463889,;SPAG8,intron_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000490578,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,downstream_gene_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000461169,;NPR2,3_prime_UTR_variant,,ENST00000448821,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;NPR2,non_coding_transcript_exon_variant,,ENST00000469249,;SPAG8,intron_variant,,ENST00000460836,;SPAG8,intron_variant,,ENST00000475644,;SPAG8,downstream_gene_variant,,ENST00000471631,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000472605,;	3307	45	43	SUCCESS
HIATL1	0	.	GRCh37	9	97216242	97216242	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs772519754	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	72	1	ENST00000375344.3:c.918G>A		p.X306_splice	ENST00000375344	NM_032558.2	306	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6710.2	918	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGACGGCCTT	BUFFER|p.T306M|c.917C>T|3	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24003,hmmpanther:PTHR24003:SF510,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Prints_domain:PR01035	.	.	ENSP00000364493	.	9/12	.	.	.	.	.	.	.	.	rs772519754	9/12	PASS	ENST00000375344	Transcript	.	.	ENSG00000148110	23376	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HIAL1_HUMAN	HIATL1	HGNC	.	.	UPI000046FF5D	SNV	HIATL1,synonymous_variant,p.%3D,ENST00000375344,;HIATL1,synonymous_variant,p.%3D,ENST00000428393,;	1187	73	68	SUCCESS
AP1S2	8905	.	GRCh37	X	15851092	15851092	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	29	152	0	ENST00000329235.2:c.427-5597G>C		p.*143*	ENST00000329235	NM_003916.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14173.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAACCCAAT	NONE	.	.	.	.	.	ENSP00000328789	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000329235	Transcript	.	.	ENSG00000182287	560	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1S2_HUMAN	AP1S2	HGNC	Q549M9_HUMAN	.	UPI0000124FEC	SNV	AP1S2,synonymous_variant,p.%3D,ENST00000380291,;AP1S2,synonymous_variant,p.%3D,ENST00000421527,;AP1S2,intron_variant,,ENST00000452376,;AP1S2,intron_variant,,ENST00000329235,;AP1S2,intron_variant,,ENST00000450644,;AP1S2,intron_variant,,ENST00000545766,;AP1S2,intron_variant,,ENST00000479184,;	.	152	164	SUCCESS
HEPH	9843	.	GRCh37	X	65480000	65480000	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	44	0	ENST00000343002.2:c.3095T>C	p.Val1032Ala	p.V1032A	ENST00000343002		1032	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS14384.3	3257	MUTECT|MUSE	.	GGTTGTGGAGA	NONE	.	.	Superfamily_domains:SSF49503,Gene3D:2.60.40.420,Pfam_domain:PF07731,hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127	.	.	ENSP00000430620	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000519389	Transcript	.	.	ENSG00000089472	4866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.192)	.	tolerated(0.07)	.	HEPH_HUMAN	HEPH	HGNC	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN	.	UPI0001C06560	SNV	HEPH,missense_variant,p.Val1032Ala,ENST00000343002,;HEPH,missense_variant,p.Val1086Ala,ENST00000519389,;HEPH,missense_variant,p.Val1035Ala,ENST00000441993,;HEPH,missense_variant,p.Val1035Ala,ENST00000374727,;HEPH,missense_variant,p.Val843Ala,ENST00000419594,;HEPH,missense_variant,p.Val765Ala,ENST00000336279,;	3436	44	54	SUCCESS
MAGEE2	139599	.	GRCh37	X	75003638	75003638	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs867972521	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	56	88	0	ENST00000373359.2:c.1249C>T	p.Arg417Cys	p.R417C	ENST00000373359	NM_138703.4	417	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS14431.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACGGTTGC	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF7,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.27)	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,missense_variant,p.Arg417Cys,ENST00000373359,;	1442	88	82	SUCCESS
SORCS1	114815	.	GRCh37	10	108367021	108367021	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762709776	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	81	0	ENST00000263054.6:c.3068C>T	p.Ala1023Val	p.A1023V	ENST00000263054	NM_001206570.1	1023	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31283.1	3068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGCCACC	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106	.	.	ENSP00000345964	.	23/27	.	.	.	.	.	.	.	.	rs762709776	23/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	tolerated(0.91)	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Ala1023Val,ENST00000263054,;SORCS1,missense_variant,p.Ala558Val,ENST00000369698,;SORCS1,missense_variant,p.Ala38Val,ENST00000452214,;SORCS1,missense_variant,p.Ala1023Val,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000478809,;SORCS1,upstream_gene_variant,,ENST00000473866,;	3068	81	70	SUCCESS
HMX2	3167	.	GRCh37	10	124908050	124908050	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	73	0	ENST00000339992.3:c.156G>A	p.Glu52=	p.E52=	ENST00000339992	NM_005519.1	52	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS31305.1	156	MUTECT|MUSE	.	TCGGAGGAGGA	NONE	.	.	hmmpanther:PTHR24325:SF18,hmmpanther:PTHR24325	.	.	ENSP00000341108	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000339992	Transcript	.	.	ENSG00000188816	5018	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMX2_HUMAN	HMX2	HGNC	.	.	UPI0000251E4F	SNV	HMX2,synonymous_variant,p.%3D,ENST00000339992,;	413	73	34	SUCCESS
VIM	7431	.	GRCh37	10	17271663	17271663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	98	0	ENST00000224237.5:c.242A>T	p.Gln81Leu	p.Q81L	ENST00000224237		81	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS7120.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGGACT	NONE	.	.	hmmpanther:PTHR23239:SF27,hmmpanther:PTHR23239,Pfam_domain:PF04732	.	.	ENSP00000446007	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.73)	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,missense_variant,p.Gln81Leu,ENST00000224237,;VIM,missense_variant,p.Gln81Leu,ENST00000544301,;VIM,upstream_gene_variant,,ENST00000421459,;VIM-AS1,non_coding_transcript_exon_variant,,ENST00000605833,;VIM-AS1,upstream_gene_variant,,ENST00000437232,;RP11-124N14.3,downstream_gene_variant,,ENST00000456355,;VIM,non_coding_transcript_exon_variant,,ENST00000485947,;VIM,non_coding_transcript_exon_variant,,ENST00000478746,;VIM,non_coding_transcript_exon_variant,,ENST00000478317,;VIM,non_coding_transcript_exon_variant,,ENST00000497849,;VIM,upstream_gene_variant,,ENST00000495528,;VIM,missense_variant,p.Gln81Leu,ENST00000487938,;VIM,upstream_gene_variant,,ENST00000469543,;	655	98	89	SUCCESS
SLC39A12	221074	.	GRCh37	10	18282170	18282170	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	41	147	0	ENST00000377369.2:c.1483G>A	p.Glu495Lys	p.E495K	ENST00000377369	NM_001145195.1	495	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44362.1	1483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGAATTA	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000366586	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	tolerated(0.05)	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Glu495Lys,ENST00000377369,;SLC39A12,missense_variant,p.Glu361Lys,ENST00000539911,;SLC39A12,missense_variant,p.Glu494Lys,ENST00000377371,;SLC39A12,intron_variant,,ENST00000377374,;	1756	147	156	SUCCESS
MYO3A	53904	.	GRCh37	10	26409644	26409644	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	104	0	ENST00000265944.5:c.1816A>T	p.Asn606Tyr	p.N606Y	ENST00000265944	NM_017433.4	606	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS7148.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAATGTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.688)	.	deleterious(0)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Asn606Tyr,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	1982	104	75	SUCCESS
FRMPD2	143162	.	GRCh37	10	49392901	49392901	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	19	123	0	ENST00000374201.3:c.2383T>C	p.Tyr795His	p.Y795H	ENST00000374201	NM_001018071.3	795	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31195.1	2383	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATACTCTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000363317	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.131)	.	deleterious(0.04)	.	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,missense_variant,p.Tyr795His,ENST00000374201,;FRMPD2,missense_variant,p.Tyr763His,ENST00000407470,;FRMPD2,missense_variant,p.Tyr770His,ENST00000305531,;FRMPD2,downstream_gene_variant,,ENST00000494505,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;	2686	123	132	SUCCESS
A1CF	29974	.	GRCh37	10	52575807	52575807	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	45	188	0	ENST00000373993.1:c.1100A>G	p.His367Arg	p.H367R	ENST00000373993		367	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS7243.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGATGTCCT	NONE	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,TIGRFAM_domain:TIGR01648	.	.	ENSP00000363107	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000373995	Transcript	.	.	ENSG00000148584	24086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.6)	.	A1CF_HUMAN	A1CF	HGNC	.	.	UPI000013DB32	SNV	A1CF,missense_variant,p.His367Arg,ENST00000373993,;A1CF,missense_variant,p.His367Arg,ENST00000282641,;A1CF,missense_variant,p.His312Arg,ENST00000395495,;A1CF,missense_variant,p.His367Arg,ENST00000374001,;A1CF,missense_variant,p.His375Arg,ENST00000373995,;A1CF,missense_variant,p.His367Arg,ENST00000373997,;A1CF,missense_variant,p.His360Arg,ENST00000395489,;ASAH2B,non_coding_transcript_exon_variant,,ENST00000483649,;A1CF,non_coding_transcript_exon_variant,,ENST00000493415,;	1383	188	157	SUCCESS
TMEM26	219623	.	GRCh37	10	63212687	63212687	+	synonymous_variant	Silent	SNP	C	C	T	rs761541357	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	22	184	0	ENST00000399298.3:c.153G>A	p.Ala51=	p.A51=	ENST00000399298	NM_178505.6	51	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS41530.1	153	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCGCAGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF09772,hmmpanther:PTHR22168:SF2,hmmpanther:PTHR22168	.	.	ENSP00000382237	.	1/6	.	.	.	.	.	.	.	.	rs761541357	1/6	PASS	ENST00000399298	Transcript	.	.	ENSG00000196932	28550	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMM26_HUMAN	TMEM26	HGNC	.	.	UPI00001C0B3F	SNV	TMEM26,synonymous_variant,p.%3D,ENST00000399298,;TMEM26,synonymous_variant,p.%3D,ENST00000399293,;RP11-809M12.1,non_coding_transcript_exon_variant,,ENST00000389640,;TMEM26,synonymous_variant,p.%3D,ENST00000503886,;TMEM26,synonymous_variant,p.%3D,ENST00000488505,;	522	184	184	SUCCESS
STOX1	219736	.	GRCh37	10	70644911	70644911	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	90	0	ENST00000298596.6:c.1359C>T	p.Pro453=	p.P453=	ENST00000298596	NM_152709.4	453	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41535.1	1359	RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCAAGCT	NONE	.	.	hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1	.	.	ENSP00000298596	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000298596	Transcript	1	.	ENSG00000165730	23508	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STOX1_HUMAN	STOX1	HGNC	C9JRL1_HUMAN	.	UPI00004B59B0	SNV	STOX1,synonymous_variant,p.%3D,ENST00000298596,;STOX1,synonymous_variant,p.%3D,ENST00000421961,;STOX1,synonymous_variant,p.%3D,ENST00000399169,;STOX1,intron_variant,,ENST00000399162,;STOX1,intron_variant,,ENST00000399165,;	1442	90	103	SUCCESS
HKDC1	80201	.	GRCh37	10	71007177	71007177	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	47	163	0	ENST00000354624.5:c.1093G>A	p.Glu365Lys	p.E365K	ENST00000354624	NM_025130.3	365	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7288.1	1093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTGAGGCT	NONE	.	.	Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12	.	.	ENSP00000346643	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000354624	Transcript	.	.	ENSG00000156510	23302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.34)	.	HKDC1_HUMAN	HKDC1	HGNC	.	.	UPI00003666D2	SNV	HKDC1,missense_variant,p.Glu365Lys,ENST00000354624,;HKDC1,missense_variant,p.Glu365Lys,ENST00000395086,;HKDC1,upstream_gene_variant,,ENST00000488706,;	1226	163	172	SUCCESS
ZMIZ1	57178	.	GRCh37	10	81056533	81056533	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	32	0	ENST00000334512.5:c.1413+123G>A		p.*471*	ENST00000334512	NM_020338.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7357.1	.	MUTECT|MUSE	.	TGGGTGATTTC	NONE	.	.	.	.	.	ENSP00000334474	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334512	Transcript	.	.	ENSG00000108175	16493	.	.	MODIFIER	13/24	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZMIZ1_HUMAN	ZMIZ1	HGNC	A0PJD4_HUMAN	.	UPI0000161744	SNV	ZMIZ1,intron_variant,,ENST00000334512,;ZMIZ1,non_coding_transcript_exon_variant,,ENST00000478357,;	.	32	34	SUCCESS
DSCAML1	57453	.	GRCh37	11	117342745	117342745	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	11	151	0	ENST00000321322.6:c.2972G>A	p.Trp991Ter	p.W991*	ENST00000321322	NM_020693.2	991	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS8384.1	2972	MUTECT|MUSE	.	AGTCCCAGGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000315465	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,stop_gained,p.Trp721Ter,ENST00000527706,;DSCAML1,stop_gained,p.Trp991Ter,ENST00000321322,;	2974	151	160	SUCCESS
HYOU1	10525	.	GRCh37	11	118924950	118924950	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	78	0	ENST00000404233.3:c.679-2A>G		p.X227_splice	ENST00000404233	NM_001130991.1	227		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTGTAGA	NONE	.	.	.	.	.	ENSP00000384144	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404233	Transcript	.	.	ENSG00000149428	16931	.	.	HIGH	7/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYOU1_HUMAN	HYOU1	HGNC	J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN	.	UPI0000130F72	SNV	HYOU1,splice_acceptor_variant,,ENST00000404233,;HYOU1,splice_acceptor_variant,,ENST00000543287,;HYOU1,splice_acceptor_variant,,ENST00000529972,;HYOU1,splice_acceptor_variant,,ENST00000530473,;HYOU1,splice_acceptor_variant,,ENST00000525859,;HYOU1,downstream_gene_variant,,ENST00000532752,;HYOU1,downstream_gene_variant,,ENST00000527038,;HYOU1,downstream_gene_variant,,ENST00000534233,;HYOU1,downstream_gene_variant,,ENST00000532421,;HYOU1,downstream_gene_variant,,ENST00000526656,;HYOU1,downstream_gene_variant,,ENST00000527310,;HYOU1,splice_acceptor_variant,,ENST00000532519,;HYOU1,splice_acceptor_variant,,ENST00000531694,;HYOU1,downstream_gene_variant,,ENST00000529174,;HYOU1,downstream_gene_variant,,ENST00000533381,;HYOU1,downstream_gene_variant,,ENST00000526354,;HYOU1,downstream_gene_variant,,ENST00000531968,;HYOU1,downstream_gene_variant,,ENST00000530467,;	.	78	72	SUCCESS
MYOD1	4654	.	GRCh37	11	17742518	17742518	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	64	131	1	ENST00000250003.3:c.700G>A	p.Ala234Thr	p.A234T	ENST00000250003	NM_002478.4	234	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7826.1	700	RADIA|SOMATICSNIPER|VARSCANS	.	ACGAGGCGCCC	NONE	.	.	hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2,Pfam_domain:PF12232	.	.	ENSP00000250003	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000250003	Transcript	.	.	ENSG00000129152	7611	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.006)	.	tolerated(0.88)	.	MYOD1_HUMAN	MYOD1	HGNC	.	.	UPI000007280C	SNV	MYOD1,missense_variant,p.Ala234Thr,ENST00000250003,;	915	132	134	SUCCESS
CKAP5	9793	.	GRCh37	11	46817173	46817173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	10	117	1	ENST00000529230.1:c.1621G>A	p.Gly541Arg	p.G541R	ENST00000529230		541	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS31477.1	1621	RADIA|MUTECT|VARSCANS	.	AGGTCCTGGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609	.	.	ENSP00000432768	.	13/44	.	.	.	.	.	.	.	.	.	13/44	PASS	ENST00000529230	Transcript	.	.	ENSG00000175216	28959	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.779)	.	tolerated(0.06)	.	CKAP5_HUMAN	CKAP5	HGNC	E9PQH5_HUMAN	.	UPI000013F21E	SNV	CKAP5,missense_variant,p.Gly541Arg,ENST00000415402,;CKAP5,missense_variant,p.Gly541Arg,ENST00000354558,;CKAP5,missense_variant,p.Gly541Arg,ENST00000312055,;CKAP5,missense_variant,p.Gly541Arg,ENST00000529230,;CKAP5,downstream_gene_variant,,ENST00000532321,;	1668	118	108	SUCCESS
OR4A15	81328	.	GRCh37	11	55135547	55135547	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs761034288	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	14	96	0	ENST00000314706.3:c.188A>T	p.Tyr63Phe	p.Y63F	ENST00000314706	NM_001005275.1	63	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS31500.1	188	RADIA|MUTECT|MUSE|VARSCANS	.	AATCTACATGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	rs761034288	1/1	PASS	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.754)	.	deleterious_low_confidence(0)	.	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,missense_variant,p.Tyr63Phe,ENST00000314706,;	188	96	108	SUCCESS
OR4C11	219429	.	GRCh37	11	55371775	55371775	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	85	0	ENST00000302231.4:c.75G>T	p.Val25=	p.V25=	ENST00000302231	NM_001004700.2	25	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31503.1	75	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAACACTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306651	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302231	Transcript	.	.	ENSG00000172188	15167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4CB_HUMAN	OR4C11	HGNC	.	.	UPI000013E7AD	SNV	OR4C11,synonymous_variant,p.%3D,ENST00000302231,;	100	85	74	SUCCESS
OR8K1	390157	.	GRCh37	11	56114194	56114194	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	47	88	0	ENST00000279783.2:c.680T>G	p.Ile227Ser	p.I227S	ENST00000279783	NM_001002907.1	227	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS31528.1	680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTATTCTAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious_low_confidence(0)	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,missense_variant,p.Ile227Ser,ENST00000279783,;	774	88	100	SUCCESS
ACTN3	89	.	GRCh37	11	66330589	66330589	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	16	108	0	ENST00000513398.1:c.2631G>A	p.Lys877=	p.K877=	ENST00000513398	NM_001104.2	877	aaG/aaA	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8144.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAGGGATC	NONE	.	345	.	.	.	ENSP00000310832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310325	Transcript	.	.	ENSG00000174080	2531	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATF_HUMAN	CTSF	HGNC	E9PSC2_HUMAN	.	UPI0000001657	SNV	CTSF,downstream_gene_variant,,ENST00000526010,;CTSF,downstream_gene_variant,,ENST00000310325,;CTSF,downstream_gene_variant,,ENST00000524994,;CTD-3074O7.2,upstream_gene_variant,,ENST00000504911,;CTSF,downstream_gene_variant,,ENST00000529561,;CTSF,downstream_gene_variant,,ENST00000533168,;CTSF,downstream_gene_variant,,ENST00000529199,;CTSF,downstream_gene_variant,,ENST00000530565,;CTSF,downstream_gene_variant,,ENST00000527141,;CTSF,downstream_gene_variant,,ENST00000525733,;ACTN3,synonymous_variant,p.%3D,ENST00000513398,;ACTN3,synonymous_variant,p.%3D,ENST00000502692,;	.	108	91	SUCCESS
P4HA3	283208	.	GRCh37	11	74013475	74013475	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	20	73	1	ENST00000331597.4:c.506A>G	p.Asp169Gly	p.D169G	ENST00000331597	NM_182904.3	169	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS8230.1	506	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	ACAGGTCAGTG	NONE	.	.	hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF14	.	.	ENSP00000332170	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000331597	Transcript	.	.	ENSG00000149380	30135	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.15)	.	tolerated(0.11)	.	P4HA3_HUMAN	P4HA3	HGNC	H0YCC3_HUMAN	.	UPI00000423C1	SNV	P4HA3,missense_variant,p.Asp169Gly,ENST00000331597,;P4HA3,missense_variant,p.Asp169Gly,ENST00000427714,;P4HA3,missense_variant,p.Asp169Gly,ENST00000524388,;P4HA3,3_prime_UTR_variant,,ENST00000525968,;	552	74	109	SUCCESS
TSKU	25987	.	GRCh37	11	76507685	76507685	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	50	0	ENST00000333090.4:c.1025C>A	p.Thr342Asn	p.T342N	ENST00000333090	NM_015516.3	342	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS8246.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACCCGGG	NONE	.	.	.	.	.	ENSP00000434847	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000527881	Transcript	.	.	ENSG00000182704	28850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.23)	.	TSK_HUMAN	TSKU	HGNC	E9PN12_HUMAN,E9PLG7_HUMAN	.	UPI000006E7B7	SNV	TSKU,missense_variant,p.Thr342Asn,ENST00000333090,;TSKU,missense_variant,p.Thr342Asn,ENST00000527881,;TSKU,downstream_gene_variant,,ENST00000533752,;TSKU,downstream_gene_variant,,ENST00000525167,;RP11-21L23.2,upstream_gene_variant,,ENST00000566747,;	2051	50	37	SUCCESS
CAPN5	726	.	GRCh37	11	76834775	76834775	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	126	0	ENST00000278559.3:c.1782G>A	p.Gln594=	p.Q594=	ENST00000278559	NM_004055.4	594	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS8248.1	1782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGGTGCA	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF138	.	.	ENSP00000278559	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000278559	Transcript	.	.	ENSG00000149260	1482	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN5_HUMAN	CAPN5	HGNC	E9PS73_HUMAN	.	UPI0000126E9F	SNV	CAPN5,splice_acceptor_variant,,ENST00000531028,;CAPN5,synonymous_variant,p.%3D,ENST00000456580,;CAPN5,synonymous_variant,p.%3D,ENST00000529629,;CAPN5,synonymous_variant,p.%3D,ENST00000278559,;MYO7A,upstream_gene_variant,,ENST00000409619,;MYO7A,upstream_gene_variant,,ENST00000409893,;MYO7A,upstream_gene_variant,,ENST00000409709,;MYO7A,upstream_gene_variant,,ENST00000458637,;CAPN5,non_coding_transcript_exon_variant,,ENST00000527129,;	1971	126	132	SUCCESS
FAM71C	196472	.	GRCh37	12	100042218	100042223	+	frameshift_variant	Frame_Shift_Del	DEL	CCCGAC	CCCGAC	TCAT	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	CCCGAC	CCCGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	89	22	99	0	ENST00000324341.1:c.266_271delinsTCAT	p.Ala89ValfsTer7	p.A89Vfs*7	ENST00000324341	NM_153364.3	89	gCCCGACca/gTCATca	0	.	.	.	.	.	TCAT	ARP/VIX	protein_coding	YES	CCDS9072.1	266-271	INDELOCATOR*|PINDEL	.	TGCTGGCCCGACCAGCT	NONE	.	.	hmmpanther:PTHR22574:SF11,hmmpanther:PTHR22574	.	.	ENSP00000315247	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000324341	Transcript	.	.	ENSG00000180219	28594	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA71C_HUMAN	FAM71C	HGNC	.	.	UPI0000073857	substitution	FAM71C,frameshift_variant,p.Ala89ValfsTer7,ENST00000324341,;ANKS1B,intron_variant,,ENST00000329257,;ANKS1B,intron_variant,,ENST00000549866,;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,intron_variant,,ENST00000547776,;ANKS1B,intron_variant,,ENST00000552232,;	688-693	99	111	SUCCESS
ALDH2	217	.	GRCh37	12	112220988	112220988	+	synonymous_variant	Silent	SNP	C	C	T	rs574259526	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	38	1	ENST00000261733.2:c.246C>T	p.Ala82=	p.A82=	ENST00000261733	NM_000690.3	82	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	.	237	MUTECT|SOMATICSNIPER|VARSCANS	.	AAGGCCGCCCG	NONE	by1000G	.	Superfamily_domains:SSF53720,Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF151,Low_complexity_(Seg):seg	T:0	.	ENSP00000450353	T:0	4/8	.	.	.	.	.	.	.	.	rs574259526	4/8	PASS	ENST00000546840	Transcript	.	T:0.0002	ENSG00000257767	.	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.001	.	.	.	RP11-162P23.2	Clone_based_vega_gene	.	.	UPI0003335168	SNV	RP11-162P23.2,synonymous_variant,p.%3D,ENST00000546840,;ALDH2,synonymous_variant,p.%3D,ENST00000261733,;ALDH2,intron_variant,,ENST00000416293,;ALDH2,3_prime_UTR_variant,,ENST00000548536,;	236	39	39	SUCCESS
MIR614	693199	.	GRCh37	12	13068820	13068820	+	mature_miRNA_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	8	142	0	ENST00000385082.1:n.58G>A		p.*20*	ENST00000385082				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8657.1	.	MUTECT|MUSE	.	TGAACGCCTGT	NONE	.	.	.	.	.	ENSP00000014914	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000014914	Transcript	.	.	ENSG00000013588	9836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAI3_HUMAN	GPRC5A	HGNC	F5GWG3_HUMAN	.	UPI00000373F7	SNV	GPRC5A,3_prime_UTR_variant,,ENST00000014914,;GPRC5A,downstream_gene_variant,,ENST00000540125,;MIR614,mature_miRNA_variant,,ENST00000385082,;GPRC5A,downstream_gene_variant,,ENST00000542056,;	5311	142	154	SUCCESS
SOX5	6660	.	GRCh37	12	24048842	24048842	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	122	0	ENST00000451604.2:c.155T>G	p.Leu52Arg	p.L52R	ENST00000451604		52	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS8699.1	155	RADIA|MUTECT|MUSE	.	AGGGAAGGTGA	NONE	.	.	.	.	.	ENSP00000398273	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000451604	Transcript	.	.	ENSG00000134532	11201	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.83)	.	deleterious_low_confidence(0)	.	SOX5_HUMAN	SOX5	HGNC	T2CYZ2_HUMAN,F5GWL1_HUMAN	.	UPI000007405E	SNV	SOX5,missense_variant,p.Leu39Arg,ENST00000309359,;SOX5,missense_variant,p.Leu39Arg,ENST00000381381,;SOX5,missense_variant,p.Leu42Arg,ENST00000541847,;SOX5,missense_variant,p.Leu39Arg,ENST00000546136,;SOX5,missense_variant,p.Leu52Arg,ENST00000441133,;SOX5,missense_variant,p.Leu52Arg,ENST00000537393,;SOX5,missense_variant,p.Leu39Arg,ENST00000541536,;SOX5,missense_variant,p.Leu52Arg,ENST00000451604,;SOX5,missense_variant,p.Leu42Arg,ENST00000545921,;SOX5,missense_variant,p.Leu39Arg,ENST00000538083,;SOX5,missense_variant,p.Leu42Arg,ENST00000367206,;	257	122	110	SUCCESS
SOX5	6660	.	GRCh37	12	24048849	24048849	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	31	120	0	ENST00000451604.2:c.148T>G	p.Phe50Val	p.F50V	ENST00000451604		50	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS8699.1	148	RADIA|MUTECT|MUSE	.	GTGAAAGGCTG	NONE	.	.	.	.	.	ENSP00000398273	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000451604	Transcript	.	.	ENSG00000134532	11201	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated_low_confidence(0.51)	.	SOX5_HUMAN	SOX5	HGNC	T2CYZ2_HUMAN,F5GWL1_HUMAN	.	UPI000007405E	SNV	SOX5,missense_variant,p.Phe37Val,ENST00000309359,;SOX5,missense_variant,p.Phe37Val,ENST00000381381,;SOX5,missense_variant,p.Phe40Val,ENST00000541847,;SOX5,missense_variant,p.Phe37Val,ENST00000546136,;SOX5,missense_variant,p.Phe50Val,ENST00000441133,;SOX5,missense_variant,p.Phe50Val,ENST00000537393,;SOX5,missense_variant,p.Phe37Val,ENST00000541536,;SOX5,missense_variant,p.Phe50Val,ENST00000451604,;SOX5,missense_variant,p.Phe40Val,ENST00000545921,;SOX5,missense_variant,p.Phe37Val,ENST00000538083,;SOX5,missense_variant,p.Phe40Val,ENST00000367206,;	250	120	109	SUCCESS
CACNA1C	775	.	GRCh37	12	2774038	2774038	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	57	0	ENST00000347598.4:c.4424C>T	p.Pro1475Leu	p.P1475L	ENST00000347598	NM_199460.2	1475	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44788.1	4424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCCAGGCA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000266376	.	37/49	.	.	.	.	.	.	.	.	.	37/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.06)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399644,;CACNA1C,missense_variant,p.Pro1416Leu,ENST00000399595,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000406454,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399617,;CACNA1C,missense_variant,p.Pro1475Leu,ENST00000347598,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000402845,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000327702,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399634,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399641,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399603,;CACNA1C,missense_variant,p.Pro1444Leu,ENST00000399629,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399601,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399597,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399655,;CACNA1C,missense_variant,p.Pro1447Leu,ENST00000399606,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399637,;CACNA1C,missense_variant,p.Pro1452Leu,ENST00000335762,;CACNA1C,missense_variant,p.Pro1416Leu,ENST00000399591,;CACNA1C,missense_variant,p.Pro1427Leu,ENST00000399621,;CACNA1C,missense_variant,p.Pro1455Leu,ENST00000399638,;CACNA1C,missense_variant,p.Pro1449Leu,ENST00000344100,;CACNA1C,missense_variant,p.Pro1414Leu,ENST00000399649,;CACNA1C-AS2,downstream_gene_variant,,ENST00000545526,;CACNA1C,upstream_gene_variant,,ENST00000465934,;AC007618.3,downstream_gene_variant,,ENST00000366455,;	4424	57	68	SUCCESS
KRT86	3892	.	GRCh37	12	52699526	52699526	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753470822	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	7	196	0	ENST00000293525.5:c.980G>A	p.Arg327His	p.R327H	ENST00000293525	NM_002284.3	327	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS41785.1	980	MUTECT|MUSE	.	GAACCGCATGA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038	.	.	ENSP00000293525	.	6/9	.	.	.	.	.	.	.	.	rs753470822	6/9	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.954)	.	tolerated(0.05)	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,missense_variant,p.Arg327His,ENST00000293525,;KRT86,missense_variant,p.Arg327His,ENST00000423955,;KRT86,missense_variant,p.Arg327His,ENST00000544024,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	1032	196	195	SUCCESS
KRT2	3849	.	GRCh37	12	53041619	53041619	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	85	0	ENST00000309680.3:c.1143T>C	p.Thr381=	p.T381=	ENST00000309680	NM_000423.2	381	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS8835.1	1143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACAGTCAC	NONE	.	.	Prints_domain:PR01276,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239	.	.	ENSP00000310861	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000309680	Transcript	.	.	ENSG00000172867	6439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K22E_HUMAN	KRT2	HGNC	.	.	UPI0000367804	SNV	KRT2,synonymous_variant,p.%3D,ENST00000309680,;KRT2,downstream_gene_variant,,ENST00000547106,;	1165	85	76	SUCCESS
TENC1	0	.	GRCh37	12	53448150	53448150	+	synonymous_variant	Silent	SNP	C	C	G	rs772874906	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	125	0	ENST00000314250.6:c.447C>G	p.Pro149=	p.P149=	ENST00000314250	NM_170754.2	149	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS8842.1	477	MUTECT|MUSE|VARSCANS	.	CGGCCCGATGA	NONE	byFrequency	.	PROSITE_profiles:PS51181,hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000319756	.	7/29	.	.	.	.	.	.	.	.	rs772874906,COSM3704237,COSM3704236	7/29	PASS	ENST00000314276	Transcript	.	.	ENSG00000111077	19737	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	TENC1_HUMAN	TENC1	HGNC	.	.	UPI000013F790	SNV	TENC1,synonymous_variant,p.%3D,ENST00000379902,;TENC1,synonymous_variant,p.%3D,ENST00000549700,;TENC1,synonymous_variant,p.%3D,ENST00000546602,;TENC1,synonymous_variant,p.%3D,ENST00000314276,;TENC1,synonymous_variant,p.%3D,ENST00000451358,;TENC1,synonymous_variant,p.%3D,ENST00000314250,;TENC1,synonymous_variant,p.%3D,ENST00000552570,;TENC1,upstream_gene_variant,,ENST00000602335,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000550601,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000551890,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000546793,;TENC1,non_coding_transcript_exon_variant,,ENST00000549498,;TENC1,non_coding_transcript_exon_variant,,ENST00000551693,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;TENC1,downstream_gene_variant,,ENST00000551302,;TENC1,upstream_gene_variant,,ENST00000549789,;TENC1,downstream_gene_variant,,ENST00000552403,;TENC1,upstream_gene_variant,,ENST00000546759,;TENC1,upstream_gene_variant,,ENST00000547223,;	672	125	43	SUCCESS
ITGA7	3679	.	GRCh37	12	56092544	56092544	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	24	158	0	ENST00000555728.1:c.1080G>C	p.Leu360=	p.L360=	ENST00000555728		360	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS55832.1	960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCAGGCG	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF72,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000452120	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000553804	Transcript	.	.	ENSG00000135424	6143	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA7_HUMAN	ITGA7	HGNC	.	.	UPI00003668CF	SNV	ITGA7,synonymous_variant,p.%3D,ENST00000452168,;ITGA7,synonymous_variant,p.%3D,ENST00000257879,;ITGA7,synonymous_variant,p.%3D,ENST00000553804,;ITGA7,synonymous_variant,p.%3D,ENST00000257880,;ITGA7,synonymous_variant,p.%3D,ENST00000394229,;ITGA7,synonymous_variant,p.%3D,ENST00000394230,;ITGA7,synonymous_variant,p.%3D,ENST00000555728,;ITGA7,synonymous_variant,p.%3D,ENST00000347027,;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,synonymous_variant,p.%3D,ENST00000556273,;ITGA7,non_coding_transcript_exon_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000555687,;ITGA7,downstream_gene_variant,,ENST00000553737,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,upstream_gene_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000553893,;ITGA7,downstream_gene_variant,,ENST00000554724,;ITGA7,upstream_gene_variant,,ENST00000554327,;ITGA7,downstream_gene_variant,,ENST00000555809,;ITGA7,upstream_gene_variant,,ENST00000557488,;ITGA7,downstream_gene_variant,,ENST00000554359,;ITGA7,downstream_gene_variant,,ENST00000556371,;	979	158	140	SUCCESS
ANKRD52	283373	.	GRCh37	12	56638565	56638565	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	69	0	ENST00000267116.7:c.2593G>A	p.Ala865Thr	p.A865T	ENST00000267116	NM_173595.3	865	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44920.1	2593	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGGCGT	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000267116	.	24/28	.	.	.	.	.	.	.	.	COSM1470650	24/28	PASS	ENST00000267116	Transcript	.	.	ENSG00000139645	26614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0.04)	1	ANR52_HUMAN	ANKRD52	HGNC	.	.	UPI0000237861	SNV	ANKRD52,missense_variant,p.Ala865Thr,ENST00000267116,;ANKRD52,upstream_gene_variant,,ENST00000548241,;	2715	69	56	SUCCESS
B4GALNT1	2583	.	GRCh37	12	58020643	58020643	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	25	145	0	ENST00000341156.4:c.1486G>A	p.Ala496Thr	p.A496T	ENST00000341156	NM_001478.4	496	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8950.1	1486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCATCCC	NONE	.	.	hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474	.	.	ENSP00000341562	.	11/11	.	.	.	.	.	.	.	.	COSM1582155	11/11	PASS	ENST00000341156	Transcript	.	.	ENSG00000135454	4117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.41)	1	B4GN1_HUMAN	B4GALNT1	HGNC	F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN	.	UPI0000126DD5	SNV	B4GALNT1,missense_variant,p.Ala496Thr,ENST00000341156,;B4GALNT1,missense_variant,p.Ala441Thr,ENST00000418555,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;SLC26A10,downstream_gene_variant,,ENST00000379218,;B4GALNT1,downstream_gene_variant,,ENST00000551220,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000550764,;SLC26A10,downstream_gene_variant,,ENST00000320442,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;SLC26A10,downstream_gene_variant,,ENST00000483647,;B4GALNT1,downstream_gene_variant,,ENST00000550943,;SLC26A10,downstream_gene_variant,,ENST00000490243,;B4GALNT1,3_prime_UTR_variant,,ENST00000552798,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000552468,;SLC26A10,downstream_gene_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000551925,;B4GALNT1,downstream_gene_variant,,ENST00000548487,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;SLC26A10,downstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000440686,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;SLC26A10,downstream_gene_variant,,ENST00000474359,;	2071	145	108	SUCCESS
SCNN1A	6337	.	GRCh37	12	6457245	6457245	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	149	0	ENST00000228916.2:c.1804G>A	p.Ala602Thr	p.A602T	ENST00000228916	NM_001038.5	602	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS53738.1	1981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCACCCC	NONE	.	.	hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,TIGRFAM_domain:TIGR00859	.	.	ENSP00000353292	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000360168	Transcript	.	.	ENSG00000111319	10599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.2)	.	SCNNA_HUMAN	SCNN1A	HGNC	Q6UP09_HUMAN,F5GXE6_HUMAN	.	UPI00001B07D7	SNV	SCNN1A,missense_variant,p.Ala302Thr,ENST00000540037,;SCNN1A,missense_variant,p.Ala625Thr,ENST00000543768,;SCNN1A,missense_variant,p.Ala602Thr,ENST00000228916,;SCNN1A,missense_variant,p.Ala624Thr,ENST00000358945,;SCNN1A,missense_variant,p.Ala661Thr,ENST00000360168,;SCNN1A,3_prime_UTR_variant,,ENST00000396966,;RN7SL391P,downstream_gene_variant,,ENST00000582559,;SCNN1A,downstream_gene_variant,,ENST00000457871,;SCNN1A,downstream_gene_variant,,ENST00000539953,;SCNN1A,3_prime_UTR_variant,,ENST00000338748,;	2245	149	123	SUCCESS
XPOT	11260	.	GRCh37	12	64813854	64813854	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	49	0	ENST00000332707.5:c.494C>T	p.Ala165Val	p.A165V	ENST00000332707	NM_007235.4	165	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31852.1	494	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCTCGTA	NONE	.	.	hmmpanther:PTHR15952,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000327821	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000332707	Transcript	.	.	ENSG00000184575	12826	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(1)	.	XPOT_HUMAN	XPOT	HGNC	F8WDU6_HUMAN,F5GYW6_HUMAN	.	UPI0000161BA5	SNV	XPOT,missense_variant,p.Ala165Val,ENST00000332707,;XPOT,missense_variant,p.Ala165Val,ENST00000400935,;XPOT,upstream_gene_variant,,ENST00000538086,;XPOT,downstream_gene_variant,,ENST00000540203,;XPOT,upstream_gene_variant,,ENST00000542958,;	1023	49	38	SUCCESS
DYRK2	8445	.	GRCh37	12	68051874	68051874	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	22	99	1	ENST00000344096.3:c.1187G>A	p.Gly396Glu	p.G396E	ENST00000344096	NM_006482.2	396	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS8978.1	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGGGCCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF51,hmmpanther:PTHR24058,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000342105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000344096	Transcript	.	.	ENSG00000127334	3093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DYRK2_HUMAN	DYRK2	HGNC	G8JLB4_HUMAN,F5GXG1_HUMAN	.	UPI000006E92B	SNV	DYRK2,missense_variant,p.Gly323Glu,ENST00000393555,;DYRK2,missense_variant,p.Gly396Glu,ENST00000344096,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,downstream_gene_variant,,ENST00000425371,;	1600	100	106	SUCCESS
DIS3	22894	.	GRCh37	13	73336102	73336102	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	85	0	ENST00000377767.4:c.2301A>C	p.Leu767Phe	p.L767F	ENST00000377767	NM_014953.3	767	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS9447.1	2301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCTAAGCC	NONE	.	.	Superfamily_domains:SSF50249,SMART_domains:SM00955,Pfam_domain:PF00773,PROSITE_patterns:PS01175,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35	.	.	ENSP00000366997	.	17/21	.	.	.	.	.	.	.	.	COSM2148994	17/21	PASS	ENST00000377767	Transcript	.	.	ENSG00000083520	20604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	RRP44_HUMAN	DIS3	HGNC	G3V1J5_HUMAN,B3KM83_HUMAN	.	UPI0000141B79	SNV	DIS3,missense_variant,p.Leu605Phe,ENST00000545453,;DIS3,missense_variant,p.Leu767Phe,ENST00000377767,;DIS3,missense_variant,p.Leu737Phe,ENST00000377780,;DIS3,intron_variant,,ENST00000469339,;DIS3,3_prime_UTR_variant,,ENST00000490646,;	2402	85	55	SUCCESS
KIF26A	26153	.	GRCh37	14	104641634	104641634	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1274274925	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	69	0	ENST00000423312.2:c.2509C>T	p.Arg837Cys	p.R837C	ENST00000423312	NM_015656.1	837	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS45171.1	2509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCGCTGC	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	.	.	ENSP00000388241	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,missense_variant,p.Arg698Cys,ENST00000315264,;KIF26A,missense_variant,p.Arg837Cys,ENST00000423312,;	2509	69	16	SUCCESS
AHNAK2	113146	.	GRCh37	14	105420945	105420945	+	synonymous_variant	Silent	SNP	C	C	T	rs376708808	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	67	0	ENST00000333244.5:c.843G>A	p.Ser281=	p.S281=	ENST00000333244	NM_138420.2	281	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45177.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACGAGCT	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,synonymous_variant,p.%3D,ENST00000333244,;AHNAK2,upstream_gene_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555544,;	963	67	42	SUCCESS
RNASE2	6036	.	GRCh37	14	21423958	21423958	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	30	123	0	ENST00000304625.2:c.28A>G	p.Ile10Val	p.I10V	ENST00000304625	NM_002934.2	10	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9561.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAATTTGT	NONE	.	.	hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF3,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000303276	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304625	Transcript	.	.	ENSG00000169385	10045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.13)	.	RNAS2_HUMAN	RNASE2	HGNC	.	.	UPI000004D2F8	SNV	RNASE2,missense_variant,p.Ile10Val,ENST00000304625,;	118	123	129	SUCCESS
LTB4R	1241	.	GRCh37	14	24785243	24785243	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	65	0	ENST00000345363.3:c.386G>T	p.Arg129Leu	p.R129L	ENST00000345363		129	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS9626.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACGCACCA	NONE	.	.	Prints_domain:PR01476,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24230:SF51,hmmpanther:PTHR24230,PROSITE_profiles:PS50262	.	.	ENSP00000380008	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396789	Transcript	.	.	ENSG00000213903	6713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LT4R1_HUMAN	LTB4R	HGNC	G3V4Q5_HUMAN,G3V244_HUMAN	.	UPI000003C106	SNV	LTB4R,missense_variant,p.Arg129Leu,ENST00000396782,;LTB4R,missense_variant,p.Arg129Leu,ENST00000345363,;LTB4R,missense_variant,p.Arg129Leu,ENST00000396789,;LTB4R,missense_variant,p.Arg29Leu,ENST00000556141,;LTB4R2,downstream_gene_variant,,ENST00000527924,;LTB4R2,downstream_gene_variant,,ENST00000530080,;LTB4R2,downstream_gene_variant,,ENST00000543919,;LTB4R,downstream_gene_variant,,ENST00000553481,;CIDEB,upstream_gene_variant,,ENST00000336557,;CIDEB,upstream_gene_variant,,ENST00000258807,;LTB4R2,downstream_gene_variant,,ENST00000533293,;ADCY4,downstream_gene_variant,,ENST00000554068,;ADCY4,downstream_gene_variant,,ENST00000418030,;LTB4R2,downstream_gene_variant,,ENST00000528054,;ADCY4,downstream_gene_variant,,ENST00000310677,;CIDEB,upstream_gene_variant,,ENST00000555817,;ADCY4,downstream_gene_variant,,ENST00000555684,;ADCY4,downstream_gene_variant,,ENST00000554577,;ADCY4,downstream_gene_variant,,ENST00000561200,;ADCY4,downstream_gene_variant,,ENST00000545213,;ADCY4,downstream_gene_variant,,ENST00000557056,;ADCY4,downstream_gene_variant,,ENST00000560635,;ADCY4,downstream_gene_variant,,ENST00000554781,;	2111	65	66	SUCCESS
TTLL5	23093	.	GRCh37	14	76147887	76147887	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs1425957060	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	46	0	ENST00000298832.9:c.182-1G>T		p.X61_splice	ENST00000298832	NM_015072.4	61		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32124.1	.	MUTECT|MUSE|VARSCANS	.	CTTTAGAACGT	NONE	.	.	.	.	.	ENSP00000298832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298832	Transcript	.	.	ENSG00000119685	19963	.	.	HIGH	3/31	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTLL5_HUMAN	TTLL5	HGNC	Q2TAY9_HUMAN,O95419_HUMAN	.	UPI00003FF22B	SNV	TTLL5,splice_acceptor_variant,,ENST00000557636,;TTLL5,splice_acceptor_variant,,ENST00000286650,;TTLL5,splice_acceptor_variant,,ENST00000298832,;TTLL5,splice_acceptor_variant,,ENST00000556977,;TTLL5,splice_acceptor_variant,,ENST00000555290,;TTLL5,splice_acceptor_variant,,ENST00000556173,;	.	46	39	SUCCESS
ITPK1	3705	.	GRCh37	14	93542960	93542960	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	48	153	0	ENST00000267615.6:c.100C>T	p.Arg34Ter	p.R34*	ENST00000267615		34	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS9907.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGCTTCC	NONE	.	.	hmmpanther:PTHR14217:SF1,hmmpanther:PTHR14217,Pfam_domain:PF05770	.	.	ENSP00000267615	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000267615	Transcript	.	.	ENSG00000100605	6177	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITPK1_HUMAN	ITPK1	HGNC	G3V588_HUMAN,G3V4M9_HUMAN	.	UPI000006F88A	SNV	ITPK1,stop_gained,p.Arg34Ter,ENST00000555553,;ITPK1,stop_gained,p.Arg34Ter,ENST00000267615,;ITPK1,stop_gained,p.Arg34Ter,ENST00000557309,;ITPK1,stop_gained,p.Arg34Ter,ENST00000556603,;ITPK1,stop_gained,p.Arg34Ter,ENST00000553452,;ITPK1,stop_gained,p.Arg34Ter,ENST00000554999,;ITPK1,stop_gained,p.Arg34Ter,ENST00000354313,;ITPK1,intron_variant,,ENST00000555495,;ITPK1-AS1,downstream_gene_variant,,ENST00000553639,;	274	153	145	SUCCESS
MKRN3	7681	.	GRCh37	15	23811328	23811328	+	synonymous_variant	Silent	SNP	G	G	A	rs905116093	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	72	0	ENST00000314520.3:c.399G>A	p.Ser133=	p.S133=	ENST00000314520	NM_005664.3	133	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10013.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGCCGCC	BUFFER|p.S133L|c.398C>T|4,BUFFER|p.P134L|c.401C>T|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,synonymous_variant,p.%3D,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,upstream_gene_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	875	73	50	SUCCESS
VPS39	23339	.	GRCh37	15	42454640	42454641	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	95	37	119	0	ENST00000348544.4:c.2247dup	p.Ser750GlnfsTer50	p.S750Qfs*50	ENST00000348544		749	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS10083.1	2214-2215	INDELOCATOR*|VARSCANI*|PINDEL	.	AATGCTGGGGG	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12894:SF10,hmmpanther:PTHR12894	.	.	ENSP00000326534	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000318006	Transcript	.	.	ENSG00000166887	20593	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VPS39_HUMAN	VPS39	HGNC	.	.	UPI0000169BB1	insertion	VPS39,frameshift_variant,p.Ser750GlnfsTer50,ENST00000348544,;VPS39,frameshift_variant,p.Ser739GlnfsTer50,ENST00000318006,;VPS39,downstream_gene_variant,,ENST00000563692,;VPS39,non_coding_transcript_exon_variant,,ENST00000562662,;VPS39,non_coding_transcript_exon_variant,,ENST00000562258,;VPS39,non_coding_transcript_exon_variant,,ENST00000568755,;VPS39,upstream_gene_variant,,ENST00000564994,;VPS39,downstream_gene_variant,,ENST00000561797,;VPS39,downstream_gene_variant,,ENST00000561818,;	2377-2378	119	132	SUCCESS
HCN4	10021	.	GRCh37	15	73617654	73617654	+	synonymous_variant	Silent	SNP	G	G	A	rs750941501	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	76	124	0	ENST00000261917.3:c.1722C>T	p.Ser574=	p.S574=	ENST00000261917	NM_005477.2	574	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10248.1	1722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCGCTTAG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:3bpzA01,Superfamily_domains:SSF51206	.	.	ENSP00000261917	.	5/8	.	.	.	.	.	.	.	.	rs750941501	5/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,synonymous_variant,p.%3D,ENST00000261917,;	2716	124	97	SUCCESS
PTX4	390667	.	GRCh37	16	1535964	1535964	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	47	0	ENST00000447419.2:c.1413C>T	p.Cys471=	p.C471=	ENST00000447419		471	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS32362.1	1398	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTGCAGTT	NONE	.	.	hmmpanther:PTHR19277:SF34,hmmpanther:PTHR19277,SMART_domains:SM00159	.	.	ENSP00000293922	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000293922	Transcript	.	.	ENSG00000251692	14171	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTX4_HUMAN	PTX4	HGNC	.	.	UPI000007334C	SNV	PTX4,synonymous_variant,p.%3D,ENST00000447419,;PTX4,synonymous_variant,p.%3D,ENST00000293922,;PTX4,3_prime_UTR_variant,,ENST00000440447,;	1398	47	55	SUCCESS
CCP110	9738	.	GRCh37	16	19551992	19551992	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	127	282	0	ENST00000381396.5:c.1932A>G	p.Leu644=	p.L644=	ENST00000381396	NM_001199022.1	644	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS55992.1	1932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTACTAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13594	.	.	ENSP00000370803	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000381396	Transcript	.	.	ENSG00000103540	24342	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP110_HUMAN	CCP110	HGNC	.	.	UPI0000D619A9	SNV	CCP110,synonymous_variant,p.%3D,ENST00000396212,;CCP110,synonymous_variant,p.%3D,ENST00000381396,;CCP110,synonymous_variant,p.%3D,ENST00000396208,;CCP110,downstream_gene_variant,,ENST00000561888,;CCP110,missense_variant,p.Tyr52Cys,ENST00000562083,;CCP110,upstream_gene_variant,,ENST00000566523,;	2179	282	317	SUCCESS
MLST8	64223	.	GRCh37	16	2257268	2257268	+	synonymous_variant	Silent	SNP	G	G	T	rs762777522	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	81	171	0	ENST00000397124.1:c.495G>T	p.Leu165=	p.L165=	ENST00000397124	NM_001199174.1	165	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10462.2	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGATCCC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19842,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000456405	.	6/9	.	.	.	.	.	.	.	.	rs762777522	6/9	PASS	ENST00000569417	Transcript	.	.	ENSG00000167965	24825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LST8_HUMAN	MLST8	HGNC	H3BQ74_HUMAN,H3BN58_HUMAN	.	UPI000006D8E8	SNV	MLST8,synonymous_variant,p.%3D,ENST00000301725,;MLST8,synonymous_variant,p.%3D,ENST00000569457,;MLST8,synonymous_variant,p.%3D,ENST00000397124,;MLST8,synonymous_variant,p.%3D,ENST00000564088,;MLST8,synonymous_variant,p.%3D,ENST00000301724,;MLST8,synonymous_variant,p.%3D,ENST00000562352,;MLST8,synonymous_variant,p.%3D,ENST00000569417,;MLST8,synonymous_variant,p.%3D,ENST00000565250,;MLST8,synonymous_variant,p.%3D,ENST00000382450,;MLST8,downstream_gene_variant,,ENST00000562479,;BRICD5,downstream_gene_variant,,ENST00000328540,;MLST8,downstream_gene_variant,,ENST00000563179,;PGP,downstream_gene_variant,,ENST00000333503,;BRICD5,downstream_gene_variant,,ENST00000566018,;BRICD5,downstream_gene_variant,,ENST00000562360,;AC009065.3,upstream_gene_variant,,ENST00000517149,;RP11-304L19.8,upstream_gene_variant,,ENST00000561544,;MLST8,non_coding_transcript_exon_variant,,ENST00000561651,;MLST8,non_coding_transcript_exon_variant,,ENST00000562844,;MLST8,non_coding_transcript_exon_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,synonymous_variant,p.%3D,ENST00000566835,;MLST8,3_prime_UTR_variant,,ENST00000563107,;MLST8,3_prime_UTR_variant,,ENST00000567282,;MLST8,3_prime_UTR_variant,,ENST00000565687,;MLST8,3_prime_UTR_variant,,ENST00000567623,;MLST8,3_prime_UTR_variant,,ENST00000570224,;MLST8,3_prime_UTR_variant,,ENST00000565717,;MLST8,non_coding_transcript_exon_variant,,ENST00000569848,;MLST8,non_coding_transcript_exon_variant,,ENST00000568194,;MLST8,non_coding_transcript_exon_variant,,ENST00000565330,;MLST8,non_coding_transcript_exon_variant,,ENST00000568542,;MLST8,non_coding_transcript_exon_variant,,ENST00000563067,;BRICD5,downstream_gene_variant,,ENST00000566795,;MLST8,downstream_gene_variant,,ENST00000566653,;MLST8,upstream_gene_variant,,ENST00000562239,;PGP,downstream_gene_variant,,ENST00000562001,;MLST8,downstream_gene_variant,,ENST00000564294,;MLST8,downstream_gene_variant,,ENST00000564679,;MLST8,downstream_gene_variant,,ENST00000562851,;MLST8,upstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000567928,;MLST8,downstream_gene_variant,,ENST00000565269,;	849	171	201	SUCCESS
ITFG3	0	.	GRCh37	16	314814	314814	+	synonymous_variant	Silent	SNP	C	C	A	rs140101617	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	54	0	ENST00000301678.3:c.1452C>A	p.Val484=	p.V484=	ENST00000301678	NM_032039.2	484	gtC/gtA	0	.	T:0	.	T:0	.	A	V	protein_coding	YES	CCDS10402.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTCCTGTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF7	T:0	.	ENSP00000382814	T:0.001	13/13	.	.	.	.	.	.	.	.	rs140101617	13/13	PASS	ENST00000399932	Transcript	.	T:0.0002	ENSG00000167930	14163	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ITFG3_HUMAN	ITFG3	HGNC	C9JR71_HUMAN,C9JJN3_HUMAN,C9J8V3_HUMAN,C9J3Y6_HUMAN,C9J1M4_HUMAN,C9IYB9_HUMAN	.	UPI000006DF0D	SNV	ITFG3,synonymous_variant,p.%3D,ENST00000301678,;ITFG3,synonymous_variant,p.%3D,ENST00000399932,;ITFG3,synonymous_variant,p.%3D,ENST00000301679,;ITFG3,synonymous_variant,p.%3D,ENST00000450082,;ITFG3,synonymous_variant,p.%3D,ENST00000424016,;ITFG3,intron_variant,,ENST00000442458,;ITFG3,intron_variant,,ENST00000600536,;RGS11,downstream_gene_variant,,ENST00000397770,;ITFG3,downstream_gene_variant,,ENST00000420046,;ITFG3,downstream_gene_variant,,ENST00000421000,;ITFG3,downstream_gene_variant,,ENST00000453430,;ARHGDIG,upstream_gene_variant,,ENST00000435035,;ARHGDIG,upstream_gene_variant,,ENST00000412541,;RGS11,downstream_gene_variant,,ENST00000316163,;RGS11,downstream_gene_variant,,ENST00000359740,;ITFG3,downstream_gene_variant,,ENST00000449945,;ITFG3,downstream_gene_variant,,ENST00000438220,;ITFG3,downstream_gene_variant,,ENST00000420500,;ARHGDIG,upstream_gene_variant,,ENST00000464609,;RGS11,downstream_gene_variant,,ENST00000168869,;RGS11,downstream_gene_variant,,ENST00000477143,;ITFG3,downstream_gene_variant,,ENST00000468354,;	1903	54	46	SUCCESS
NMRAL1	57407	.	GRCh37	16	4519432	4519432	+	synonymous_variant	Silent	SNP	C	C	T	rs11557237	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	67	0	ENST00000283429.6:c.75G>A	p.Leu25=	p.L25=	ENST00000283429	NM_020677.3	25	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10516.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCAGGAG	NONE	.	.	Superfamily_domains:SSF51735,Gene3D:3.40.50.720,Pfam_domain:PF05368,hmmpanther:PTHR14194,hmmpanther:PTHR14194:SF42	.	.	ENSP00000458762	.	3/6	.	.	.	.	.	.	.	.	rs11557237	3/6	PASS	ENST00000574733	Transcript	.	.	ENSG00000153406	24987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMRL1_HUMAN	NMRAL1	HGNC	.	.	UPI000007018F	SNV	NMRAL1,synonymous_variant,p.%3D,ENST00000283429,;NMRAL1,synonymous_variant,p.%3D,ENST00000404295,;NMRAL1,synonymous_variant,p.%3D,ENST00000573571,;NMRAL1,synonymous_variant,p.%3D,ENST00000574733,;NMRAL1,synonymous_variant,p.%3D,ENST00000574425,;NMRAL1,upstream_gene_variant,,ENST00000576176,;NMRAL1,upstream_gene_variant,,ENST00000572232,;NMRAL1,upstream_gene_variant,,ENST00000572110,;NMRAL1,non_coding_transcript_exon_variant,,ENST00000575002,;NMRAL1,non_coding_transcript_exon_variant,,ENST00000575557,;NMRAL1,intron_variant,,ENST00000572391,;NMRAL1,downstream_gene_variant,,ENST00000575995,;NMRAL1,downstream_gene_variant,,ENST00000576935,;NMRAL1,3_prime_UTR_variant,,ENST00000573520,;NMRAL1,intron_variant,,ENST00000571291,;NMRAL1,upstream_gene_variant,,ENST00000571448,;	805	67	74	SUCCESS
WDR81	124997	.	GRCh37	17	1630783	1630783	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	101	0	ENST00000409644.1:c.2530C>T	p.Gln844Ter	p.Q844*	ENST00000409644	NM_001163809.1	844	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS54062.1	2530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACCAACTG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314	.	.	ENSP00000386609	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000409644	Transcript	.	.	ENSG00000167716	26600	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR81_HUMAN	WDR81	HGNC	E9PDG3_HUMAN,C9JD20_HUMAN	.	UPI0001881A85	SNV	WDR81,stop_gained,p.Gln844Ter,ENST00000409644,;WDR81,intron_variant,,ENST00000468539,;WDR81,intron_variant,,ENST00000419248,;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000309182,;WDR81,intron_variant,,ENST00000437219,;WDR81,intron_variant,,ENST00000418841,;WDR81,upstream_gene_variant,,ENST00000575206,;WDR81,upstream_gene_variant,,ENST00000545662,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000495411,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000474958,;	2530	101	62	SUCCESS
SMG6	23293	.	GRCh37	17	2076069	2076069	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	48	118	0	ENST00000263073.6:c.3240G>C	p.Lys1080Asn	p.K1080N	ENST00000263073	NM_017575.4	1080	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS11016.1	3240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCTTGTA	NONE	.	.	hmmpanther:PTHR13548:SF1,hmmpanther:PTHR13548,Pfam_domain:PF10373,Superfamily_domains:SSF48452	.	.	ENSP00000263073	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000263073	Transcript	.	.	ENSG00000070366	17809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.02)	.	EST1A_HUMAN	SMG6	HGNC	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN	.	UPI00002005C8	SNV	SMG6,missense_variant,p.Lys103Asn,ENST00000572369,;SMG6,missense_variant,p.Lys172Asn,ENST00000536871,;SMG6,missense_variant,p.Lys46Asn,ENST00000575454,;SMG6,missense_variant,p.Lys1049Asn,ENST00000544865,;SMG6,missense_variant,p.Lys1080Asn,ENST00000263073,;SMG6,missense_variant,p.Lys103Asn,ENST00000575176,;SMG6,missense_variant,p.Lys103Asn,ENST00000572205,;SMG6,missense_variant,p.Lys172Asn,ENST00000354901,;SMG6,downstream_gene_variant,,ENST00000570659,;SMG6,downstream_gene_variant,,ENST00000575663,;SMG6,downstream_gene_variant,,ENST00000571442,;SMG6,non_coding_transcript_exon_variant,,ENST00000570874,;	3291	118	112	SUCCESS
TMEM132E	124842	.	GRCh37	17	32964431	32964431	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	73	1	ENST00000321639.5:c.2135T>C	p.Leu712Pro	p.L712P	ENST00000321639	NM_207313.1	712	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS11283.1	2135	MUTECT|MUSE	.	TGTGCTCGCCA	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Leu712Pro,ENST00000321639,;TMEM132E,non_coding_transcript_exon_variant,,ENST00000577271,;	2463	74	58	SUCCESS
KRT39	390792	.	GRCh37	17	39114975	39114975	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775535011	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	41	194	1	ENST00000355612.2:c.1354G>A	p.Gly452Arg	p.G452R	ENST00000355612	NM_213656.3	452	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS11382.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCGCAGG	NONE	byFrequency	.	hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239	.	.	ENSP00000347823	.	7/7	.	.	.	.	.	.	.	.	rs775535011	7/7	PASS	ENST00000355612	Transcript	.	.	ENSG00000196859	32971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.39)	.	K1C39_HUMAN	KRT39	HGNC	J3QRE9_HUMAN	.	UPI0000237913	SNV	KRT39,missense_variant,p.Gly452Arg,ENST00000355612,;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,non_coding_transcript_exon_variant,,ENST00000578029,;	1390	195	191	SUCCESS
KRTAP1-3	81850	.	GRCh37	17	39190602	39190602	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	40	267	0	ENST00000344363.5:c.472T>C	p.Cys158Arg	p.C158R	ENST00000344363	NM_030966.1	158	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS42323.1	472	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF45,hmmpanther:PTHR23262,Pfam_domain:PF01500	.	.	ENSP00000344420	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344363	Transcript	.	.	ENSG00000221880	16771	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.588)	.	deleterious(0)	.	KRA13_HUMAN	KRTAP1-3	HGNC	.	.	UPI000006DC17	SNV	KRTAP1-3,missense_variant,p.Cys158Arg,ENST00000344363,;KRTAP1-4,upstream_gene_variant,,ENST00000377747,;	506	267	235	SUCCESS
ITGA3	3675	.	GRCh37	17	48148866	48148866	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	16	0	ENST00000320031.8:c.943G>A	p.Asp315Asn	p.D315N	ENST00000320031	NM_002204.2	315	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS11557.1	943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAGACCTG	NONE	.	.	Prints_domain:PR01185,Superfamily_domains:SSF69318,SMART_domains:SM00191,Pfam_domain:PF13517,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,PROSITE_profiles:PS51470	.	.	ENSP00000007722	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000007722	Transcript	.	.	ENSG00000005884	6139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITA3_HUMAN	ITGA3	HGNC	Q86SW1_HUMAN	.	UPI0000140781	SNV	ITGA3,missense_variant,p.Asp90Asn,ENST00000544892,;ITGA3,missense_variant,p.Asp315Asn,ENST00000320031,;ITGA3,missense_variant,p.Asp315Asn,ENST00000007722,;ITGA3,intron_variant,,ENST00000512553,;ITGA3,3_prime_UTR_variant,,ENST00000506401,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,upstream_gene_variant,,ENST00000510809,;ITGA3,upstream_gene_variant,,ENST00000505552,;ITGA3,upstream_gene_variant,,ENST00000505612,;	943	16	23	SUCCESS
KIF2B	84643	.	GRCh37	17	51901739	51901739	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	16	96	0	ENST00000268919.4:c.1345G>T	p.Ala449Ser	p.A449S	ENST00000268919	NM_032559.4	449	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32685.1	1345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAGCTGGG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,PROSITE_patterns:PS00411,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000268919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000268919	Transcript	.	.	ENSG00000141200	29443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KIF2B_HUMAN	KIF2B	HGNC	.	.	UPI000013D7E6	SNV	KIF2B,missense_variant,p.Ala449Ser,ENST00000268919,;	1501	96	89	SUCCESS
TEX14	56155	.	GRCh37	17	56700253	56700253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	56	124	0	ENST00000240361.8:c.372C>A	p.Asn124Lys	p.N124K	ENST00000240361		124	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS56042.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGGTTTTG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR23060,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000240361	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.09)	.	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,missense_variant,p.Asn124Lys,ENST00000349033,;TEX14,missense_variant,p.Asn124Lys,ENST00000389934,;TEX14,missense_variant,p.Asn124Lys,ENST00000240361,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	458	124	123	SUCCESS
ACE	1636	.	GRCh37	17	61561892	61561892	+	synonymous_variant	Silent	SNP	G	G	A	rs200255554	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	3	80	0	ENST00000290866.4:c.1911G>A	p.Pro637=	p.P637=	ENST00000290866	NM_000789.3	637	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11637.1	1911	MUTECT|MUSE	.	TACCCGGAGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401	.	.	ENSP00000290866	.	12/25	.	.	.	.	.	.	.	.	rs200255554	12/25	PASS	ENST00000290866	Transcript	.	.	ENSG00000159640	2707	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACE_HUMAN	ACE	HGNC	Q3KRI5_HUMAN,D3DU13_HUMAN	.	UPI000002B8AD	SNV	ACE,synonymous_variant,p.%3D,ENST00000428043,;ACE,synonymous_variant,p.%3D,ENST00000290866,;ACE,upstream_gene_variant,,ENST00000490216,;ACE,upstream_gene_variant,,ENST00000582761,;ACE,upstream_gene_variant,,ENST00000290863,;ACE,upstream_gene_variant,,ENST00000413513,;ACE,downstream_gene_variant,,ENST00000538928,;ACE,downstream_gene_variant,,ENST00000582627,;ACE,upstream_gene_variant,,ENST00000421982,;ACE,downstream_gene_variant,,ENST00000584529,;ACE,synonymous_variant,p.%3D,ENST00000579726,;ACE,3_prime_UTR_variant,,ENST00000582678,;ACE,upstream_gene_variant,,ENST00000582005,;ACE,upstream_gene_variant,,ENST00000578839,;ACE,upstream_gene_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000580318,;ACE,upstream_gene_variant,,ENST00000579314,;ACE,upstream_gene_variant,,ENST00000579204,;ACE,upstream_gene_variant,,ENST00000577647,;	1935	80	67	SUCCESS
PITPNM3	83394	.	GRCh37	17	6381970	6381970	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	100	0	ENST00000262483.8:c.674C>G	p.Ser225Cys	p.S225C	ENST00000262483	NM_031220.3	225	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS11076.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGAGATG	NONE	.	.	hmmpanther:PTHR10658	.	.	ENSP00000262483	.	7/20	.	.	.	.	.	.	.	.	COSM3521052	7/20	PASS	ENST00000262483	Transcript	.	.	ENSG00000091622	21043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.897)	.	deleterious(0.03)	1	PITM3_HUMAN	PITPNM3	HGNC	.	.	UPI000022A281	SNV	PITPNM3,missense_variant,p.Ser225Cys,ENST00000262483,;PITPNM3,missense_variant,p.Ser189Cys,ENST00000421306,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;	762	100	77	SUCCESS
CD300E	342510	.	GRCh37	17	72613454	72613454	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201462551	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	17	140	0	ENST00000392619.1:c.272C>G	p.Thr91Ser	p.T91S	ENST00000392619	NM_181449.2	91	aCc/aGc	0	.	A:0	.	A:0	.	C	T/S	protein_coding	YES	CCDS11702.1	191	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGTCTCC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF34,hmmpanther:PTHR11860,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0.001	.	ENSP00000329942	A:0	2/4	.	.	.	.	.	.	.	.	rs201462551	2/4	PASS	ENST00000328630	Transcript	.	A:0.0002	ENSG00000186407	28874	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	A:0	deleterious(0.01)	.	CLM2_HUMAN	CD300E	HGNC	.	.	UPI0000246EA0	SNV	CD300E,missense_variant,p.Thr66Ser,ENST00000412268,;CD300E,missense_variant,p.Thr64Ser,ENST00000328630,;CD300E,missense_variant,p.Thr105Ser,ENST00000426295,;CD300E,missense_variant,p.Thr91Ser,ENST00000392619,;	232	140	145	SUCCESS
TP53	7157	.	GRCh37	17	7574035	7574035	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs867389695	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	105	0	ENST00000269305.4:c.994-2A>G		p.X332_splice	ENST00000269305	NM_001126112.2	332		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTGCAGC	SITE|p.?|c.994-2A>G|3,SITE|p.?|c.994-2A>G|5,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.G334V|c.1001G>T|5,BUFFER|p.G334V|c.1001G>T|8,BUFFER|p.G334W|c.1000G>T|3,BUFFER|p.?|c.994-1G>T|3,BUFFER|p.?|c.994-2A>T|4,BUFFER|p.?|c.994-2A>T|7	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	TP53_g.16883A>T,COSM43791,COSM3970338,COSM87027,COSM1610826,COSM318155,COSM3970337	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	9/10	PRIMARY	.	.	.	.	5	0,1,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000359597,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	.	105	74	SUCCESS
GALNT1	2589	.	GRCh37	18	33267144	33267144	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	16	112	0	ENST00000269195.5:c.854C>T	p.Pro285Leu	p.P285L	ENST00000269195	NM_020474.3	285	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11915.1	854	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCTGTCA	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF19,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000269195	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000269195	Transcript	.	.	ENSG00000141429	4123	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	GALT1_HUMAN	GALNT1	HGNC	K7EJV8_HUMAN,F5GY99_HUMAN	.	UPI00001311FC	SNV	GALNT1,missense_variant,p.Pro285Leu,ENST00000269195,;GALNT1,missense_variant,p.Pro225Leu,ENST00000537549,;GALNT1,missense_variant,p.Pro285Leu,ENST00000589189,;GALNT1,3_prime_UTR_variant,,ENST00000590654,;	957	112	120	SUCCESS
FHOD3	80206	.	GRCh37	18	34156482	34156482	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	22	160	0	ENST00000359247.4:c.580T>C	p.Trp194Arg	p.W194R	ENST00000359247	NM_001281739.1	194	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS32816.1	580	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGTGGCTG	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,Superfamily_domains:SSF48371	.	.	ENSP00000257209	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Trp194Arg,ENST00000590592,;FHOD3,missense_variant,p.Trp194Arg,ENST00000445677,;FHOD3,missense_variant,p.Trp194Arg,ENST00000257209,;FHOD3,missense_variant,p.Trp194Arg,ENST00000359247,;FHOD3,5_prime_UTR_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	702	160	156	SUCCESS
DOK6	220164	.	GRCh37	18	67425047	67425047	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779449377	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	75	0	ENST00000382713.5:c.794G>A	p.Arg265His	p.R265H	ENST00000382713	NM_152721.5	265	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32841.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGCAGCG	BUFFER|p.A267V|c.800C>T|3	.	.	hmmpanther:PTHR21258:SF43,hmmpanther:PTHR21258	.	.	ENSP00000372160	.	7/8	.	.	.	.	.	.	.	.	rs779449377,COSM989713	7/8	PASS	ENST00000382713	Transcript	.	.	ENSG00000206052	28301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	.	deleterious(0)	0,1	DOK6_HUMAN	DOK6	HGNC	.	.	UPI000035EC7C	SNV	DOK6,missense_variant,p.Arg265His,ENST00000382713,;DOK6,non_coding_transcript_exon_variant,,ENST00000577609,;	984	75	87	SUCCESS
SALL3	27164	.	GRCh37	18	76754132	76754132	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746446415	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	124	0	ENST00000537592.2:c.2141G>T	p.Arg714Leu	p.R714L	ENST00000537592	NM_171999.3	714	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12013.1	2141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCGCGCCT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	rs746446415	2/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,missense_variant,p.Arg581Leu,ENST00000536229,;SALL3,missense_variant,p.Arg714Leu,ENST00000537592,;SALL3,missense_variant,p.Arg714Leu,ENST00000575389,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	2141	124	70	SUCCESS
TECR	9524	.	GRCh37	19	14640442	14640442	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	23	129	0	ENST00000215567.5:c.-67A>T		p.*23*	ENST00000215567	NM_138501.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12313.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGAGCCTG	NONE	.	.	.	.	.	ENSP00000215567	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000215567	Transcript	1	.	ENSG00000099797	4551	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TECR_HUMAN	TECR	HGNC	M0R0N5_HUMAN,M0QXS1_HUMAN,B4DR74_HUMAN	.	UPI00000534C6	SNV	DNAJB1,5_prime_UTR_variant,,ENST00000594099,;TECR,5_prime_UTR_variant,,ENST00000596073,;TECR,5_prime_UTR_variant,,ENST00000436007,;TECR,5_prime_UTR_variant,,ENST00000215567,;TECR,5_prime_UTR_variant,,ENST00000600083,;TECR,5_prime_UTR_variant,,ENST00000598298,;DNAJB1,upstream_gene_variant,,ENST00000598692,;DNAJB1,upstream_gene_variant,,ENST00000596853,;DNAJB1,upstream_gene_variant,,ENST00000396969,;DNAJB1,upstream_gene_variant,,ENST00000596075,;DNAJB1,upstream_gene_variant,,ENST00000601533,;DNAJB1,upstream_gene_variant,,ENST00000595992,;MIR639,non_coding_transcript_exon_variant,,ENST00000384974,;TECR,upstream_gene_variant,,ENST00000596164,;TECR,5_prime_UTR_variant,,ENST00000598987,;TECR,non_coding_transcript_exon_variant,,ENST00000593637,;TECR,non_coding_transcript_exon_variant,,ENST00000601652,;TECR,non_coding_transcript_exon_variant,,ENST00000594807,;TECR,non_coding_transcript_exon_variant,,ENST00000599646,;TECR,intron_variant,,ENST00000600076,;TECR,upstream_gene_variant,,ENST00000598333,;TECR,upstream_gene_variant,,ENST00000597607,;DNAJB1,upstream_gene_variant,,ENST00000601087,;TECR,upstream_gene_variant,,ENST00000596953,;	71	129	231	SUCCESS
SYDE1	85360	.	GRCh37	19	15221217	15221217	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	26	0	ENST00000342784.2:c.1075+58C>T		p.*359*	ENST00000342784	NM_033025.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12324.1	.	MUTECT|MUSE	.	CCACCCCCCGC	NONE	.	.	.	.	.	ENSP00000341489	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	MODIFIER	3/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,5_prime_UTR_variant,,ENST00000600252,;SYDE1,intron_variant,,ENST00000600440,;SYDE1,intron_variant,,ENST00000342784,;ILVBL,downstream_gene_variant,,ENST00000534378,;SYDE1,upstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000263383,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000534806,;	.	26	13	SUCCESS
CERS1	10715	.	GRCh37	19	18994929	18994929	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1601172583	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	19	146	1	ENST00000427170.2:c.557C>T	p.Thr186Ile	p.T186I	ENST00000427170	NM_021267.3	186	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS46020.1	557	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAGTGACC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12560,hmmpanther:PTHR12560:SF2,Pfam_domain:PF03798,PIRSF_domain:PIRSF005225,SMART_domains:SM00724	.	.	ENSP00000402697	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000427170	Transcript	1	.	ENSG00000223802	14253	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	CERS1_HUMAN	CERS1	HGNC	Q5XG75_HUMAN	.	UPI000012E98A	SNV	CERS1,missense_variant,p.Thr186Ile,ENST00000429504,;CERS1,missense_variant,p.Thr88Ile,ENST00000542296,;CERS1,missense_variant,p.Thr39Ile,ENST00000596048,;CERS1,missense_variant,p.Thr186Ile,ENST00000427170,;GDF1,5_prime_UTR_variant,,ENST00000247005,;AC005197.2,downstream_gene_variant,,ENST00000597769,;	629	147	176	SUCCESS
CTC-457E21.3	0	.	GRCh37	19	22785450	22785450	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	19	0	ENST00000600260.1:n.1539C>T		p.*513*	ENST00000600260				0	.	.	.	.	.	T	.	miRNA	YES	.	.	RADIA|SOMATICSNIPER	.	AAGAGCGGGTG	NONE	.	58	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408863	Transcript	.	.	ENSG00000221790	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC011467.1	Clone_based_ensembl_gene	.	.	.	SNV	AC011467.1,upstream_gene_variant,,ENST00000408863,;RN7SL860P,downstream_gene_variant,,ENST00000473738,;CTC-457E21.3,non_coding_transcript_exon_variant,,ENST00000600260,;CTC-457E21.3,downstream_gene_variant,,ENST00000597408,;CTC-457E21.6,upstream_gene_variant,,ENST00000599738,;CTC-457E21.5,upstream_gene_variant,,ENST00000598658,;CTC-457E21.3,non_coding_transcript_exon_variant,,ENST00000596977,;CTC-457E21.5,upstream_gene_variant,,ENST00000594891,;	.	19	14	SUCCESS
KLK1	3816	.	GRCh37	19	51322605	51322605	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	56	0	ENST00000301420.2:c.634G>A	p.Gly212Ser	p.G212S	ENST00000301420	NM_002257.3	212	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12804.1	634	MUTECT|MUSE	.	ATCACCCTGGG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF14,hmmpanther:PTHR24275,PROSITE_patterns:PS00135,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000301420	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301420	Transcript	1	.	ENSG00000167748	6357	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	KLK1_HUMAN	KLK1	HGNC	Q9UE84_HUMAN,F8WAM8_HUMAN	.	UPI000004CA0D	SNV	KLK1,missense_variant,p.Gly212Ser,ENST00000301420,;KLK1,missense_variant,p.Gly110Ser,ENST00000448701,;CTD-2568A17.5,downstream_gene_variant,,ENST00000326989,;CTD-2568A17.5,downstream_gene_variant,,ENST00000593632,;KLK1,splice_region_variant,,ENST00000593859,;KLK1,splice_region_variant,,ENST00000593325,;KLK1,splice_region_variant,,ENST00000596300,;	670	56	73	SUCCESS
ZNF528	84436	.	GRCh37	19	52919064	52919064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	6	79	0	ENST00000360465.3:c.959C>A	p.Thr320Asn	p.T320N	ENST00000360465	NM_032423.2	320	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS33091.1	959	MUTECT|MUSE|VARSCANS	.	TCATACTGGAG	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24377:SF143,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000353652	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360465	Transcript	.	.	ENSG00000167555	29384	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.738)	.	deleterious(0)	.	ZN528_HUMAN	ZNF528	HGNC	C9K0H2_HUMAN	.	UPI00001B6535	SNV	ZNF528,missense_variant,p.Thr320Asn,ENST00000360465,;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,downstream_gene_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,downstream_gene_variant,,ENST00000479718,;	1385	79	78	SUCCESS
ZNF835	90485	.	GRCh37	19	57175244	57175244	+	synonymous_variant	Silent	SNP	C	C	T	rs1385299414	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	56	0	ENST00000537055.2:c.1323G>A	p.Thr441=	p.T441=	ENST00000537055	NM_001005850.2	441	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS56105.1	1323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCCGTGTG	BUFFER|p.T461T|c.1383G>A|3	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000444747	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537055	Transcript	.	.	ENSG00000127903	34332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN835_HUMAN	ZNF835	HGNC	M0QYX0_HUMAN	.	UPI0000EE7244	SNV	ZNF835,synonymous_variant,p.%3D,ENST00000537055,;ZNF835,downstream_gene_variant,,ENST00000601659,;	1555	56	33	SUCCESS
TTF2	8458	.	GRCh37	1	117644020	117644020	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	18	0	ENST00000369466.4:c.3363A>G	p.Thr1121=	p.T1121=	ENST00000369466	NM_003594.3	1121	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS892.1	3363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACAGTAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF573,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000358478	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000369466	Transcript	.	.	ENSG00000116830	12398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTF2_HUMAN	TTF2	HGNC	.	.	UPI000013CCE7	SNV	TTF2,synonymous_variant,p.%3D,ENST00000369466,;TTF2,synonymous_variant,p.%3D,ENST00000427271,;TTF2,non_coding_transcript_exon_variant,,ENST00000463696,;TTF2,non_coding_transcript_exon_variant,,ENST00000480701,;TTF2,non_coding_transcript_exon_variant,,ENST00000492682,;	3407	18	21	SUCCESS
CR2	1380	.	GRCh37	1	207644362	207644362	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	23	173	0	ENST00000367058.3:c.1423G>A	p.Gly475Arg	p.G475R	ENST00000367058	NM_001877.4	475	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31007.1	1423	RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGGAAGG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330	.	.	ENSP00000356024	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.771)	.	deleterious(0.01)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Gly475Arg,ENST00000458541,;CR2,missense_variant,p.Gly475Arg,ENST00000367057,;CR2,missense_variant,p.Gly475Arg,ENST00000367058,;CR2,missense_variant,p.Gly475Arg,ENST00000367059,;CR2,non_coding_transcript_exon_variant,,ENST00000475194,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;	1612	173	212	SUCCESS
KIF26B	55083	.	GRCh37	1	245849809	245849809	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202113373	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	14	119	0	ENST00000407071.2:c.3524C>T	p.Thr1175Met	p.T1175M	ENST00000407071	NM_018012.3	1175	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS44342.1	3524	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACGGTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	T:0.0001	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	rs202113373	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.01)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Thr1175Met,ENST00000407071,;KIF26B,missense_variant,p.Thr794Met,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	3964	119	153	SUCCESS
OR2T10	127069	.	GRCh37	1	248756351	248756351	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774284253	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	36	193	1	ENST00000330500.2:c.719C>T	p.Thr240Ile	p.T240I	ENST00000330500	NM_001004693.1	240	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31121.1	719	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGTGGTG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000329210	.	1/1	.	.	.	.	.	.	.	.	rs774284253	1/1	PASS	ENST00000330500	Transcript	.	.	ENSG00000184022	19573	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O2T10_HUMAN	OR2T10	HGNC	.	.	UPI000004F23B	SNV	OR2T10,missense_variant,p.Thr240Ile,ENST00000330500,;Y_RNA,downstream_gene_variant,,ENST00000364732,;	750	194	283	SUCCESS
SESN2	83667	.	GRCh37	1	28598805	28598805	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763209004	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	60	0	ENST00000253063.3:c.365G>A	p.Arg122His	p.R122H	ENST00000253063	NM_031459.4	122	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS321.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCGCCATC	NONE	.	.	hmmpanther:PTHR12474:SF2,hmmpanther:PTHR12474,Pfam_domain:PF04636,Gene3D:1.20.1290.10,Superfamily_domains:SSF69118	.	.	ENSP00000253063	.	4/10	.	.	.	.	.	.	.	.	rs763209004,COSM907964,COSM1502534	4/10	PASS	ENST00000253063	Transcript	.	.	ENSG00000130766	20746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	SESN2_HUMAN	SESN2	HGNC	.	.	UPI0000001C01	SNV	SESN2,missense_variant,p.Arg122His,ENST00000253063,;	686	60	46	SUCCESS
PREX1	57580	.	GRCh37	20	47269978	47269978	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1384353174	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	61	0	ENST00000371941.3:c.2267G>A	p.Gly756Asp	p.G756D	ENST00000371941	NM_020820.3	756	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS13410.1	2267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCATTG	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000361009	.	20/40	.	.	.	.	.	.	.	.	.	20/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Gly756Asp,ENST00000396220,;PREX1,missense_variant,p.Gly756Asp,ENST00000371941,;PREX1,missense_variant,p.Gly78Asp,ENST00000482556,;	2290	62	58	SUCCESS
CDH4	1002	.	GRCh37	20	60499390	60499390	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	72	0	ENST00000360469.5:c.1629-2A>G		p.X543_splice	ENST00000360469	NM_001794.3	543		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13488.1	.	MUTECT|MUSE	.	TCCGCAGATAC	NONE	.	.	.	.	.	ENSP00000353656	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360469	Transcript	.	.	ENSG00000179242	1763	.	.	HIGH	10/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADH4_HUMAN	CDH4	HGNC	Q8ND09_HUMAN	.	UPI000015FE86	SNV	CDH4,splice_acceptor_variant,,ENST00000543233,;CDH4,splice_acceptor_variant,,ENST00000360469,;	.	72	42	SUCCESS
EEF1A2	1917	.	GRCh37	20	62120486	62120486	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	66	1	ENST00000217182.3:c.1049C>G	p.Pro350Arg	p.P350R	ENST00000217182	NM_001958.3	350	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS13522.1	1049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGGGTGG	NONE	.	.	HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Superfamily_domains:SSF50465	.	.	ENSP00000217182	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000217182	Transcript	1	.	ENSG00000101210	3192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious_low_confidence(0)	.	EF1A2_HUMAN	EEF1A2	HGNC	.	.	UPI0000000136	SNV	EEF1A2,missense_variant,p.Pro350Arg,ENST00000298049,;EEF1A2,missense_variant,p.Pro350Arg,ENST00000217182,;	1215	67	67	SUCCESS
KRTAP19-1	337882	.	GRCh37	21	31852613	31852613	+	synonymous_variant	Silent	SNP	G	G	A	rs369209975	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	32	175	1	ENST00000390689.2:c.24C>T	p.Tyr8=	p.Y8=	ENST00000390689	NM_181607.1	8	taC/taT	0	A:0	.	.	.	.	A	Y	protein_coding	YES	CCDS13594.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCGTAGTA	NONE	byCluster	.	Low_complexity_(Seg):seg,Pfam_domain:PF11759	.	A:0.0001	ENSP00000375108	.	1/1	.	.	.	.	.	.	.	.	rs369209975	1/1	PASS	ENST00000390689	Transcript	.	.	ENSG00000184351	18936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR191_HUMAN	KRTAP19-1	HGNC	.	.	UPI00001A9E54	SNV	KRTAP19-1,synonymous_variant,p.%3D,ENST00000390689,;	51	176	154	SUCCESS
KRTAP8-1	337879	.	GRCh37	21	32185533	32185533	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	41	166	0	ENST00000329621.4:c.6C>G	p.Leu2=	p.L2=	ENST00000329621	NM_175857.3	2	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13607.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGAGCAT	NONE	.	.	.	.	.	ENSP00000332805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329621	Transcript	.	.	ENSG00000183640	18935	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA81_HUMAN	KRTAP8-1	HGNC	.	.	UPI00000747A5	SNV	KRTAP8-1,synonymous_variant,p.%3D,ENST00000329621,;	38	166	151	SUCCESS
BACE2	25825	.	GRCh37	21	42598204	42598204	+	synonymous_variant	Silent	SNP	C	C	A	rs766328992	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	11	150	0	ENST00000330333.6:c.324C>A	p.Leu108=	p.L108=	ENST00000330333	NM_012105.4	108	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13668.1	324	MUTECT|MUSE	.	ATTCTCGTTGA	NONE	byFrequency	.	hmmpanther:PTHR13683:SF262,hmmpanther:PTHR13683,PROSITE_patterns:PS00141,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630,Prints_domain:PR00792	.	.	ENSP00000332979	.	2/9	.	.	.	.	.	.	.	.	rs766328992	2/9	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,synonymous_variant,p.%3D,ENST00000328735,;BACE2,synonymous_variant,p.%3D,ENST00000347667,;BACE2,synonymous_variant,p.%3D,ENST00000330333,;BACE2,non_coding_transcript_exon_variant,,ENST00000470864,;BACE2,non_coding_transcript_exon_variant,,ENST00000487994,;BACE2,upstream_gene_variant,,ENST00000466122,;BACE2,upstream_gene_variant,,ENST00000491838,;	787	150	181	SUCCESS
RRP1B	23076	.	GRCh37	21	45107710	45107710	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	22	106	0	ENST00000340648.4:c.1455A>T	p.Glu485Asp	p.E485D	ENST00000340648	NM_015056.2	485	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS33577.1	1455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAAATGTT	NONE	.	.	hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2	.	.	ENSP00000339145	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000340648	Transcript	.	.	ENSG00000160208	23818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.2)	.	RRP1B_HUMAN	RRP1B	HGNC	.	.	UPI0000198EE6	SNV	RRP1B,missense_variant,p.Glu485Asp,ENST00000340648,;RRP1B,non_coding_transcript_exon_variant,,ENST00000470886,;	1572	106	118	SUCCESS
ADORA2A	135	.	GRCh37	22	24837235	24837235	+	synonymous_variant	Silent	SNP	C	C	T	rs759832709	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	77	1	ENST00000337539.7:c.1017C>T	p.Asn339=	p.N339=	ENST00000337539	NM_001278499.1	339	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS13826.1	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAACGGCCA	NONE	byFrequency	.	hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF19,Prints_domain:PR00553	.	.	ENSP00000336630	.	3/3	.	.	.	.	.	.	.	.	rs759832709	3/3	PASS	ENST00000337539	Transcript	.	.	ENSG00000128271	263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AA2AR_HUMAN	ADORA2A	HGNC	S4R429_HUMAN,S4R3A7_HUMAN,S4R2Z8_HUMAN,C9JQD8_HUMAN,C9JFS2_HUMAN,C9J3T2_HUMAN,C9J0Z4_HUMAN,B4DW87_HUMAN	.	UPI00000503E2	SNV	ADORA2A,synonymous_variant,p.%3D,ENST00000444262,;ADORA2A,synonymous_variant,p.%3D,ENST00000337539,;ADORA2A-AS1,intron_variant,,ENST00000326341,;ADORA2A-AS1,intron_variant,,ENST00000427813,;ADORA2A-AS1,intron_variant,,ENST00000543438,;ADORA2A,downstream_gene_variant,,ENST00000496497,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;	1476	78	83	SUCCESS
RGPD4	285190	.	GRCh37	2	108488196	108488196	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	414	56	497	0	ENST00000408999.3:c.3736A>C	p.Thr1246Pro	p.T1246P	ENST00000408999	NM_182588.2	1246	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS46381.1	3736	RADIA|MUTECT|MUSE	.	GGCCCACATTA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.709)	.	tolerated(0.09)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Thr1246Pro,ENST00000408999,;RGPD4,missense_variant,p.Thr1246Pro,ENST00000354986,;	3813	497	470	SUCCESS
RGPD4	285190	.	GRCh37	2	108488198	108488198	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	428	56	515	0	ENST00000408999.3:c.3738A>C	p.Thr1246=	p.T1246=	ENST00000408999	NM_182588.2	1246	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS46381.1	3738	RADIA|MUTECT|MUSE	.	CCCACATTAGA	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	3815	516	485	SUCCESS
DAPL1	92196	.	GRCh37	2	159651944	159651944	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	27	238	0	ENST00000309950.3:c.58+2T>A		p.X20_splice	ENST00000309950	NM_001017920.2	20		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33307.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGTAGGCT	NONE	.	.	.	.	.	ENSP00000309538	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309950	Transcript	.	.	ENSG00000163331	21490	.	.	HIGH	1/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DAPL1_HUMAN	DAPL1	HGNC	M1E9T5_HUMAN	.	UPI000016001A	SNV	DAPL1,splice_donor_variant,,ENST00000409042,;DAPL1,splice_donor_variant,,ENST00000309950,;	.	238	214	SUCCESS
LY75	4065	.	GRCh37	2	160664981	160664981	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	85	0	ENST00000263636.4:c.4801G>A	p.Gly1601Arg	p.G1601R	ENST00000263636	NM_002349.3	1601	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS56141.1	4801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCCAAGCC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000423463	.	33/39	.	.	.	.	.	.	.	.	.	33/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Gly1601Arg,ENST00000504764,;LY75,missense_variant,p.Gly1601Arg,ENST00000553424,;LY75,missense_variant,p.Gly1601Arg,ENST00000554112,;LY75,missense_variant,p.Gly1601Arg,ENST00000263636,;LY75-CD302,missense_variant,p.Gly1601Arg,ENST00000505052,;AC009961.5,downstream_gene_variant,,ENST00000435771,;	4829	85	93	SUCCESS
TTN	7273	.	GRCh37	2	179560835	179560835	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1056294403	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	37	128	0	ENST00000591111.1:c.30013G>A	p.Asp10005Asn	p.D10005N	ENST00000591111		10005	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS59435.1	30964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTCATAAG	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	114/363	.	.	.	.	.	.	.	.	.	114/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp200Asn,ENST00000414766,;TTN,missense_variant,p.Asp9078Asn,ENST00000342992,;TTN,missense_variant,p.Asp10322Asn,ENST00000589042,;TTN,missense_variant,p.Asp10005Asn,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000589487,;	31189	128	107	SUCCESS
CHRND	1144	.	GRCh37	2	233390976	233390976	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	22	176	0	ENST00000258385.3:c.51T>C		p.X17_splice	ENST00000258385	NM_000751.2	17	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS2494.1	51	RADIA|MUTECT|MUSE	.	GTGTGTGGTAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945:SF61,hmmpanther:PTHR18945	.	.	ENSP00000258385	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000258385	Transcript	.	.	ENSG00000135902	1965	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACHD_HUMAN	CHRND	HGNC	.	.	UPI000012525E	SNV	CHRND,synonymous_variant,p.%3D,ENST00000536614,;CHRND,synonymous_variant,p.%3D,ENST00000258385,;CHRND,synonymous_variant,p.%3D,ENST00000449596,;CHRND,synonymous_variant,p.%3D,ENST00000543200,;CHRND,splice_region_variant,,ENST00000457943,;PRSS56,downstream_gene_variant,,ENST00000449534,;CHRND,synonymous_variant,p.%3D,ENST00000412233,;CHRND,synonymous_variant,p.%3D,ENST00000441621,;CHRND,synonymous_variant,p.%3D,ENST00000446616,;PRSS56,downstream_gene_variant,,ENST00000602410,;	83	176	194	SUCCESS
UGT1A8	54576	.	GRCh37	2	234526864	234526864	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs772766831	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	104	1	ENST00000373450.4:c.511G>T	p.Gly171Ter	p.G171*	ENST00000373450	NM_019076.4	171	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	.	CCDS33402.1	511	RADIA|MUTECT|MUSE	.	CCAGGGGAATA	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF138,hmmpanther:PTHR11926	.	.	ENSP00000362549	.	1/5	.	.	.	.	.	.	.	.	rs772766831	1/5	PASS	ENST00000373450	Transcript	.	.	ENSG00000241635	12540	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UD18_HUMAN	UGT1A8	HGNC	Q5DSZ6_HUMAN	.	UPI0000072F75	SNV	UGT1A8,stop_gained,p.Gly171Ter,ENST00000373450,;	574	105	101	SUCCESS
UGT1A5	54579	.	GRCh37	2	234622090	234622090	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	243	7	251	0	ENST00000373414.3:c.453A>G	p.Thr151=	p.T151=	ENST00000373414		151	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS33404.1	453	MUTECT|MUSE	.	CTAACAGACCC	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926	.	.	ENSP00000362513	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000373414	Transcript	.	.	ENSG00000240224	12537	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UD15_HUMAN	UGT1A5	HGNC	Q5QTE5_HUMAN,Q5DSZ9_HUMAN	.	UPI0000001043	SNV	UGT1A8,synonymous_variant,p.%3D,ENST00000608381,;UGT1A5,synonymous_variant,p.%3D,ENST00000373414,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000305139,;UGT1A6,intron_variant,,ENST00000373424,;UGT1A7,intron_variant,,ENST00000373426,;UGT1A8,intron_variant,,ENST00000609637,;UGT1A6,intron_variant,,ENST00000406651,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;UGT1A9,intron_variant,,ENST00000354728,;AC114812.8,upstream_gene_variant,,ENST00000439336,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	453	251	250	SUCCESS
EFR3B	22979	.	GRCh37	2	25359436	25359436	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	41	80	1	ENST00000403714.3:c.1529G>A	p.Cys510Tyr	p.C510Y	ENST00000403714	NM_014971.1	510	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS46231.1	1529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTGCTCTC	NONE	.	.	hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF4	.	.	ENSP00000384081	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000403714	Transcript	.	.	ENSG00000084710	29155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	EFR3B_HUMAN	EFR3B	HGNC	E7ESK9_HUMAN	.	UPI0000208069	SNV	EFR3B,missense_variant,p.Cys510Tyr,ENST00000401432,;EFR3B,missense_variant,p.Cys389Tyr,ENST00000264719,;EFR3B,missense_variant,p.Cys362Tyr,ENST00000405108,;EFR3B,missense_variant,p.Cys510Tyr,ENST00000403714,;EFR3B,missense_variant,p.Cys475Tyr,ENST00000402191,;	1712	81	63	SUCCESS
EXOC6B	23233	.	GRCh37	2	72692418	72692418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	51	144	0	ENST00000272427.6:c.1851G>T	p.Lys617Asn	p.K617N	ENST00000272427	NM_015189.1	617	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS46333.1	1851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATCTTCTG	NONE	.	.	hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3,Pfam_domain:PF04091,PIRSF_domain:PIRSF025007	.	.	ENSP00000272427	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000272427	Transcript	.	.	ENSG00000144036	17085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EXC6B_HUMAN	EXOC6B	HGNC	Q9H8D6_HUMAN	.	UPI000046995C	SNV	EXOC6B,missense_variant,p.Lys617Asn,ENST00000410104,;EXOC6B,missense_variant,p.Lys617Asn,ENST00000272427,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000464347,;	1982	144	122	SUCCESS
BBX	56987	.	GRCh37	3	107491987	107491987	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	90	232	0	ENST00000325805.8:c.1419C>T	p.Cys473=	p.C473=	ENST00000325805		473	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS46881.1	1419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGCAAAAA	NONE	.	.	hmmpanther:PTHR13059	.	.	ENSP00000319974	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000325805	Transcript	.	.	ENSG00000114439	14422	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBX_HUMAN	BBX	HGNC	Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN	.	UPI000007315E	SNV	BBX,synonymous_variant,p.%3D,ENST00000415149,;BBX,synonymous_variant,p.%3D,ENST00000402543,;BBX,synonymous_variant,p.%3D,ENST00000406780,;BBX,synonymous_variant,p.%3D,ENST00000325805,;BBX,intron_variant,,ENST00000416476,;BBX,downstream_gene_variant,,ENST00000402163,;BBX,upstream_gene_variant,,ENST00000473542,;BBX,downstream_gene_variant,,ENST00000472032,;BBX,downstream_gene_variant,,ENST00000485939,;	1706	232	233	SUCCESS
CD96	10225	.	GRCh37	3	111261036	111261036	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	36	0	ENST00000283285.5:c.-60A>G		p.*20*	ENST00000283285	NM_198196.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2959.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGAAAACA	NONE	.	.	.	.	.	ENSP00000283285	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000283285	Transcript	.	.	ENSG00000153283	16892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TACT_HUMAN	CD96	HGNC	U3KPT0_HUMAN	.	UPI000013DD36	SNV	CD96,5_prime_UTR_variant,,ENST00000283285,;CD96,5_prime_UTR_variant,,ENST00000438817,;CD96,5_prime_UTR_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000460744,;CD96,5_prime_UTR_variant,,ENST00000488054,;CD96,upstream_gene_variant,,ENST00000494798,;	72	36	50	SUCCESS
CAND2	23066	.	GRCh37	3	12859357	12859357	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770646822	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	70	1	ENST00000456430.2:c.2926C>T	p.Arg976Trp	p.R976W	ENST00000456430	NM_001162499.1	976	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS54554.1	2926	MUTECT|VARSCANS	.	GCTTGCGGAAG	NONE	byFrequency	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	10/15	.	.	.	.	.	.	.	.	rs770646822	10/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.453)	.	deleterious(0)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Arg976Trp,ENST00000456430,;CAND2,missense_variant,p.Arg883Trp,ENST00000295989,;CAND2,downstream_gene_variant,,ENST00000446928,;	2967	71	54	SUCCESS
CLSTN2	64084	.	GRCh37	3	140123517	140123517	+	synonymous_variant	Silent	SNP	G	G	A	rs977728342	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	79	241	0	ENST00000458420.3:c.546G>A	p.Glu182=	p.E182=	ENST00000458420	NM_022131.2	182	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS3112.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGGCCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000402460	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,synonymous_variant,p.%3D,ENST00000458420,;AC092988.1,downstream_gene_variant,,ENST00000580582,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	736	241	216	SUCCESS
FGD5	152273	.	GRCh37	3	14862981	14862981	+	synonymous_variant	Silent	SNP	G	G	T	rs772362250	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	76	0	ENST00000285046.5:c.2403G>T	p.Thr801=	p.T801=	ENST00000285046	NM_152536.3	801	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46767.1	2403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGAAGCT	NONE	byFrequency	.	hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	.	.	ENSP00000285046	.	1/20	.	.	.	.	.	.	.	.	rs772362250	1/20	PASS	ENST00000285046	Transcript	.	.	ENSG00000154783	19117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,synonymous_variant,p.%3D,ENST00000285046,;FGD5,synonymous_variant,p.%3D,ENST00000543601,;FGD5,synonymous_variant,p.%3D,ENST00000457774,;	2513	76	74	SUCCESS
MECOM	2122	.	GRCh37	3	168810745	168810745	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	40	0	ENST00000468789.1:c.2600+1G>T		p.X867_splice	ENST00000468789	NM_001105078.3	867		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54670.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTACCTCTC	NONE	.	.	.	.	.	ENSP00000264674	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,splice_donor_variant,,ENST00000472280,;MECOM,splice_donor_variant,,ENST00000460814,;MECOM,splice_donor_variant,,ENST00000464456,;MECOM,splice_donor_variant,,ENST00000494292,;MECOM,splice_donor_variant,,ENST00000468789,;MECOM,splice_donor_variant,,ENST00000433243,;MECOM,splice_donor_variant,,ENST00000392736,;MECOM,splice_donor_variant,,ENST00000264674,;	.	40	72	SUCCESS
SLC22A14	9389	.	GRCh37	3	38357904	38357904	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	83	0	ENST00000273173.4:c.1622C>A	p.Pro541His	p.P541H	ENST00000273173	NM_004803.3	541	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS2677.1	1622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCCATCT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF48,PROSITE_profiles:PS50850	.	.	ENSP00000273173	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000273173	Transcript	.	.	ENSG00000144671	8495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	S22AE_HUMAN	SLC22A14	HGNC	F5H7H1_HUMAN	.	UPI00001AE9A8	SNV	SLC22A14,missense_variant,p.Pro541His,ENST00000273173,;SLC22A14,missense_variant,p.Pro541His,ENST00000448498,;	1713	83	113	SUCCESS
CHL1	10752	.	GRCh37	3	403447	403447	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	53	118	0	ENST00000397491.2:c.1324T>C	p.Phe442Leu	p.F442L	ENST00000397491		442	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2556.1	1372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTTTCTTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256509	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.34)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Phe442Leu,ENST00000397491,;CHL1,missense_variant,p.Phe458Leu,ENST00000256509,;CHL1-AS1,downstream_gene_variant,,ENST00000417612,;CHL1-AS1,downstream_gene_variant,,ENST00000608098,;CHL1,non_coding_transcript_exon_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	2014	118	114	SUCCESS
KIF15	56992	.	GRCh37	3	44843455	44843455	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746770419	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	83	0	ENST00000326047.4:c.1498C>A	p.Leu500Met	p.L500M	ENST00000326047	NM_020242.2	500	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS33744.1	1498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTCTGCGA	NONE	byFrequency	.	hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115,Pfam_domain:PF12711	.	.	ENSP00000324020	.	13/35	.	.	.	.	.	.	.	.	rs746770419	13/35	PASS	ENST00000326047	Transcript	.	.	ENSG00000163808	17273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	KIF15_HUMAN	KIF15	HGNC	D6RCT7_HUMAN	.	UPI000006DB0E	SNV	KIF15,missense_variant,p.Leu272Met,ENST00000481166,;KIF15,missense_variant,p.Leu135Met,ENST00000425755,;KIF15,missense_variant,p.Leu500Met,ENST00000326047,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,non_coding_transcript_exon_variant,,ENST00000493134,;	1647	83	101	SUCCESS
OR5K4	403278	.	GRCh37	3	98073262	98073262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	76	0	ENST00000354924.2:c.565T>A	p.Cys189Ser	p.C189S	ENST00000354924	NM_001005517.1	189	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS33802.1	565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTGTACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000347003	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354924	Transcript	.	.	ENSG00000196098	31291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR5K4_HUMAN	OR5K4	HGNC	.	.	UPI000044D411	SNV	OR5K4,missense_variant,p.Cys189Ser,ENST00000354924,;RP11-325B23.2,intron_variant,,ENST00000508616,;	565	76	87	SUCCESS
TRPC3	7222	.	GRCh37	4	122836092	122836092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	95	0	ENST00000379645.3:c.1184C>T	p.Ala395Val	p.A395V	ENST00000379645	NM_001130698.1	395	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47130.1	1184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGCCACA	NONE	.	.	hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870	.	.	ENSP00000368966	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000379645	Transcript	.	.	ENSG00000138741	12335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.323)	.	deleterious(0.05)	.	TRPC3_HUMAN	TRPC3	HGNC	Q4W5P7_HUMAN,D6R902_HUMAN	.	UPI00004C6F61	SNV	TRPC3,missense_variant,p.Ala322Val,ENST00000264811,;TRPC3,missense_variant,p.Ala395Val,ENST00000379645,;TRPC3,intron_variant,,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	1258	95	65	SUCCESS
N4BP2	55728	.	GRCh37	4	40103840	40103840	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	109	0	ENST00000261435.6:c.375T>G	p.Ser125Arg	p.S125R	ENST00000261435	NM_018177.4	125	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS3457.1	375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGAAGA	NONE	.	.	hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	.	.	ENSP00000261435	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.2)	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,missense_variant,p.Ser45Arg,ENST00000515550,;N4BP2,missense_variant,p.Ser125Arg,ENST00000261435,;N4BP2,upstream_gene_variant,,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	791	109	89	SUCCESS
GABRG1	2565	.	GRCh37	4	46060284	46060284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	35	177	0	ENST00000295452.4:c.866G>T	p.Trp289Leu	p.W289L	ENST00000295452	NM_173536.3	289	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS3470.1	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCAAGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000295452	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Trp289Leu,ENST00000295452,;	1034	177	176	SUCCESS
PDCL2	132954	.	GRCh37	4	56458269	56458269	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	13	128	0	ENST00000295645.4:c.6+2T>G		p.X2_splice	ENST00000295645	NM_152401.2	2		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47059.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCACCTGC	NONE	.	.	.	.	.	ENSP00000295645	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295645	Transcript	.	.	ENSG00000163440	29524	.	.	HIGH	1/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDCL2_HUMAN	PDCL2	HGNC	.	.	UPI000020B8D5	SNV	PDCL2,splice_donor_variant,,ENST00000295645,;NMU,downstream_gene_variant,,ENST00000511469,;NMU,downstream_gene_variant,,ENST00000507338,;NMU,downstream_gene_variant,,ENST00000505262,;NMU,downstream_gene_variant,,ENST00000264218,;NMU,downstream_gene_variant,,ENST00000515325,;	.	129	122	SUCCESS
HTRA3	94031	.	GRCh37	4	8295868	8295868	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	16	111	0	ENST00000307358.2:c.991G>T	p.Ala331Ser	p.A331S	ENST00000307358	NM_053044.3	331	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3400.1	991	RADIA|MUTECT|MUSE	.	CCTTTGCCATC	NONE	.	.	Superfamily_domains:SSF50494,Gene3D:2.40.10.10,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939	.	.	ENSP00000303766	.	6/9	.	.	.	.	.	.	.	.	COSM116166	6/9	PASS	ENST00000307358	Transcript	.	.	ENSG00000170801	30406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.405)	.	deleterious(0)	1	HTRA3_HUMAN	HTRA3	HGNC	.	.	UPI0000001647	SNV	HTRA3,missense_variant,p.Ala331Ser,ENST00000382512,;HTRA3,missense_variant,p.Ala331Ser,ENST00000307358,;	1195	111	128	SUCCESS
HTRA3	94031	.	GRCh37	4	8295870	8295870	+	synonymous_variant	Silent	SNP	C	C	T	rs761861978	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	16	114	0	ENST00000307358.2:c.993C>T	p.Ala331=	p.A331=	ENST00000307358	NM_053044.3	331	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3400.1	993	RADIA|MUTECT|MUSE	.	TTTGCCATCCC	NONE	.	.	Superfamily_domains:SSF50494,Gene3D:2.40.10.10,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939	.	.	ENSP00000303766	.	6/9	.	.	.	.	.	.	.	.	rs761861978	6/9	PASS	ENST00000307358	Transcript	.	.	ENSG00000170801	30406	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HTRA3_HUMAN	HTRA3	HGNC	.	.	UPI0000001647	SNV	HTRA3,synonymous_variant,p.%3D,ENST00000382512,;HTRA3,synonymous_variant,p.%3D,ENST00000307358,;	1197	114	125	SUCCESS
CSNK1G3	1456	.	GRCh37	5	122940520	122940520	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1366880605	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	48	258	1	ENST00000361991.2:c.1285A>G	p.Thr429Ala	p.T429A	ENST00000361991		429	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS43355.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAACCAAG	NONE	.	.	hmmpanther:PTHR11909:SF112,hmmpanther:PTHR11909	.	.	ENSP00000378807	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000395412	Transcript	.	.	ENSG00000151292	2456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.27)	.	KC1G3_HUMAN	CSNK1G3	HGNC	.	.	UPI000014149D	SNV	CSNK1G3,missense_variant,p.Thr429Ala,ENST00000395412,;CSNK1G3,missense_variant,p.Thr397Ala,ENST00000521364,;CSNK1G3,missense_variant,p.Thr322Ala,ENST00000512718,;CSNK1G3,missense_variant,p.Thr397Ala,ENST00000345990,;CSNK1G3,missense_variant,p.Thr429Ala,ENST00000395411,;CSNK1G3,missense_variant,p.Thr146Ala,ENST00000515322,;CSNK1G3,missense_variant,p.Thr429Ala,ENST00000361991,;CSNK1G3,missense_variant,p.Thr398Ala,ENST00000510842,;CSNK1G3,missense_variant,p.Thr285Ala,ENST00000511130,;CSNK1G3,missense_variant,p.Thr429Ala,ENST00000360683,;	2004	259	236	SUCCESS
SLC6A18	348932	.	GRCh37	5	1244795	1244795	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	26	107	0	ENST00000324642.3:c.1569C>T	p.Val523=	p.V523=	ENST00000324642	NM_182632.2	523	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3860.1	1569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCAGTCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000323549	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000324642	Transcript	1	.	ENSG00000164363	26441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A18_HUMAN	SLC6A18	HGNC	.	.	UPI0000197EA2	SNV	SLC6A18,synonymous_variant,p.%3D,ENST00000324642,;SLC6A18,downstream_gene_variant,,ENST00000296821,;	1692	107	122	SUCCESS
BRD8	10902	.	GRCh37	5	137501703	137501703	+	synonymous_variant	Silent	SNP	G	G	A	rs761550472	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	73	0	ENST00000254900.5:c.1092C>T	p.Ile364=	p.I364=	ENST00000254900	NM_139199.1	364	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS4198.1	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTGATGAT	NONE	byFrequency	.	hmmpanther:PTHR15398,hmmpanther:PTHR15398:SF1	.	.	ENSP00000254900	.	11/27	.	.	.	.	.	.	.	.	rs761550472	11/27	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,synonymous_variant,p.%3D,ENST00000254900,;BRD8,synonymous_variant,p.%3D,ENST00000455658,;BRD8,synonymous_variant,p.%3D,ENST00000402931,;BRD8,synonymous_variant,p.%3D,ENST00000411594,;BRD8,synonymous_variant,p.%3D,ENST00000454473,;BRD8,synonymous_variant,p.%3D,ENST00000418329,;BRD8,synonymous_variant,p.%3D,ENST00000453824,;BRD8,synonymous_variant,p.%3D,ENST00000230901,;BRD8,synonymous_variant,p.%3D,ENST00000441656,;BRD8,upstream_gene_variant,,ENST00000511898,;BRD8,downstream_gene_variant,,ENST00000425764,;BRD8,upstream_gene_variant,,ENST00000515014,;BRD8,synonymous_variant,p.%3D,ENST00000506167,;BRD8,3_prime_UTR_variant,,ENST00000512140,;BRD8,non_coding_transcript_exon_variant,,ENST00000483805,;BRD8,non_coding_transcript_exon_variant,,ENST00000463620,;BRD8,downstream_gene_variant,,ENST00000471892,;BRD8,downstream_gene_variant,,ENST00000432618,;BRD8,upstream_gene_variant,,ENST00000460746,;BRD8,downstream_gene_variant,,ENST00000515254,;BRD8,upstream_gene_variant,,ENST00000489351,;BRD8,downstream_gene_variant,,ENST00000450756,;BRD8,downstream_gene_variant,,ENST00000428808,;	1464	73	55	SUCCESS
PCDHB8	56128	.	GRCh37	5	140558833	140558833	+	synonymous_variant	Silent	SNP	A	A	G	rs781920804	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	383	91	495	0	ENST00000239444.2:c.1218A>G	p.Thr406=	p.T406=	ENST00000239444	NM_019120.3	406	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS4250.1	1218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAACAGAGAC	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF89,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	rs781920804	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,synonymous_variant,p.%3D,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	1463	495	474	SUCCESS
TRIO	7204	.	GRCh37	5	14374421	14374421	+	synonymous_variant	Silent	SNP	G	G	A	rs1365720508	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	37	115	1	ENST00000344204.4:c.3300G>A	p.Thr1100=	p.T1100=	ENST00000344204	NM_007118.2	1100	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3883.1	3300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACGCACAT	NONE	.	.	hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826	.	.	ENSP00000339299	.	19/57	.	.	.	.	.	.	.	.	.	19/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,synonymous_variant,p.%3D,ENST00000537187,;TRIO,synonymous_variant,p.%3D,ENST00000509967,;TRIO,synonymous_variant,p.%3D,ENST00000344204,;TRIO,synonymous_variant,p.%3D,ENST00000513206,;TRIO,synonymous_variant,p.%3D,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;	3324	117	136	SUCCESS
BTNL3	10917	.	GRCh37	5	180431437	180431437	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	50	183	0	ENST00000342868.6:c.829C>A	p.Gln277Lys	p.Q277K	ENST00000342868	NM_197975.2	277	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47358.1	829	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGACAGGCA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13	.	.	ENSP00000341787	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000342868	Transcript	.	.	ENSG00000168903	1143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.03)	.	BTNL3_HUMAN	BTNL3	HGNC	.	.	UPI00001D69EF	SNV	BTNL3,missense_variant,p.Gln277Lys,ENST00000342868,;RNU6-1036P,upstream_gene_variant,,ENST00000383959,;	1013	183	228	SUCCESS
FBXO4	26272	.	GRCh37	5	41927119	41927119	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	8	63	0	ENST00000281623.3:c.194A>T	p.Asp65Val	p.D65V	ENST00000281623	NM_012176.2	65	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS3938.1	194	RADIA|MUTECT|MUSE|VARSCANS	.	GATTGATGTAC	NONE	.	.	Superfamily_domains:SSF81383,SMART_domains:SM00256,Pfam_domain:PF00646,Gene3D:1.20.1280.50,hmmpanther:PTHR16008,hmmpanther:PTHR16008:SF4,PROSITE_profiles:PS50181	.	.	ENSP00000281623	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000281623	Transcript	.	.	ENSG00000151876	13583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	FBX4_HUMAN	FBXO4	HGNC	.	.	UPI0000062307	SNV	FBXO4,missense_variant,p.Asp65Val,ENST00000296812,;FBXO4,missense_variant,p.Asp65Val,ENST00000509134,;FBXO4,missense_variant,p.Asp65Val,ENST00000281623,;FBXO4,missense_variant,p.Asp65Val,ENST00000504463,;FBXO4,intron_variant,,ENST00000506496,;FBXO4,intron_variant,,ENST00000513496,;	250	63	60	SUCCESS
HMGCR	3156	.	GRCh37	5	74646693	74646693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	79	0	ENST00000287936.4:c.860C>A	p.Ser287Tyr	p.S287Y	ENST00000287936	NM_000859.2	287	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS4027.1	860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCTAAGG	NONE	.	.	hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,TIGRFAM_domain:TIGR00920	.	.	ENSP00000287936	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000287936	Transcript	1	.	ENSG00000113161	5006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	deleterious(0.04)	.	HMDH_HUMAN	HMGCR	HGNC	D6RIW0_HUMAN,C9JKX7_HUMAN	.	UPI000012C9E2	SNV	HMGCR,missense_variant,p.Ser287Tyr,ENST00000343975,;HMGCR,missense_variant,p.Ser287Tyr,ENST00000287936,;HMGCR,missense_variant,p.Ser287Tyr,ENST00000511206,;HMGCR,non_coding_transcript_exon_variant,,ENST00000504466,;HMGCR,upstream_gene_variant,,ENST00000508070,;HMGCR,upstream_gene_variant,,ENST00000515776,;	1016	79	58	SUCCESS
FAM81B	153643	.	GRCh37	5	94749799	94749799	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	29	145	1	ENST00000283357.5:c.442G>A	p.Gly148Ser	p.G148S	ENST00000283357	NM_152548.2	148	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43341.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATGGCTTT	NONE	.	.	hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF3	.	.	ENSP00000283357	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000283357	Transcript	.	.	ENSG00000153347	26335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.05)	.	FA81B_HUMAN	FAM81B	HGNC	.	.	UPI000045731A	SNV	FAM81B,missense_variant,p.Gly148Ser,ENST00000283357,;FAM81B,downstream_gene_variant,,ENST00000510458,;FAM81B,missense_variant,p.Met54Ile,ENST00000513529,;FAM81B,missense_variant,p.Gly98Ser,ENST00000507832,;FAM81B,missense_variant,p.Gly94Ser,ENST00000503361,;FAM81B,3_prime_UTR_variant,,ENST00000503099,;	488	146	159	SUCCESS
SYNE1	23345	.	GRCh37	6	152768757	152768757	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	rs760388733	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	47	0	ENST00000367255.5:c.3505G>C	p.Glu1169Gln	p.E1169Q	ENST00000367255	NM_182961.3	1169	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5236.2	3505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTCCTGAA	NONE	.	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	29/146	.	.	.	.	.	.	.	.	rs760388733	29/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Glu1159Gln,ENST00000367248,;SYNE1,missense_variant,p.Glu1176Gln,ENST00000423061,;SYNE1,missense_variant,p.Glu1176Gln,ENST00000448038,;SYNE1,missense_variant,p.Glu1169Gln,ENST00000367255,;SYNE1,missense_variant,p.Glu1169Gln,ENST00000413186,;SYNE1,missense_variant,p.Glu1169Gln,ENST00000367253,;SYNE1,missense_variant,p.Glu1235Gln,ENST00000341594,;SYNE1,missense_variant,p.Glu1169Gln,ENST00000265368,;SYNE1,splice_region_variant,,ENST00000461872,;	4107	47	35	SUCCESS
FNDC1	84624	.	GRCh37	6	159655441	159655441	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	13	162	0	ENST00000297267.9:c.3897C>A	p.Arg1299=	p.R1299=	ENST00000297267	NM_032532.2	1299	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47512.1	3897	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGCCAGAG	NONE	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,synonymous_variant,p.%3D,ENST00000340366,;FNDC1,synonymous_variant,p.%3D,ENST00000297267,;FNDC1,synonymous_variant,p.%3D,ENST00000329629,;	4097	162	128	SUCCESS
DHX16	8449	.	GRCh37	6	30627550	30627550	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	98	0	ENST00000376442.3:c.1817A>T	p.Gln606Leu	p.Q606L	ENST00000376442	NM_001164239.1	606	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4685.1	1817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGGGTC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934,PROSITE_profiles:PS51194	.	.	ENSP00000365625	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000376442	Transcript	.	.	ENSG00000204560	2739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	DHX16_HUMAN	DHX16	HGNC	Q5SQH4_HUMAN	.	UPI000000D73D	SNV	DHX16,missense_variant,p.Gln125Leu,ENST00000376437,;DHX16,missense_variant,p.Gln606Leu,ENST00000376442,;DHX16,non_coding_transcript_exon_variant,,ENST00000480966,;	2013	98	66	SUCCESS
GLO1	2739	.	GRCh37	6	38670887	38670887	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	84	0	ENST00000373365.4:c.-57G>A		p.*19*	ENST00000373365	NM_006708.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4837.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACTACGC	NONE	.	.	.	.	.	ENSP00000362463	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373365	Transcript	.	.	ENSG00000124767	4323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGUL_HUMAN	GLO1	HGNC	.	.	UPI0000169DF9	SNV	GLO1,5_prime_UTR_variant,,ENST00000373365,;	31	84	67	SUCCESS
TTBK1	84630	.	GRCh37	6	43220563	43220563	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	70	0	ENST00000259750.4:c.195G>A	p.Glu65=	p.E65=	ENST00000259750	NM_032538.1	65	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS34455.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGTCAGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000259750	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,synonymous_variant,p.%3D,ENST00000304139,;TTBK1,synonymous_variant,p.%3D,ENST00000259750,;	278	70	56	SUCCESS
EEF1A1	1915	.	GRCh37	6	74229722	74229722	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	15	0	ENST00000309268.6:c.28A>G	p.Ile10Val	p.I10V	ENST00000309268		10	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS4980.1	28	RADIA|MUTECT|MUSE	.	GACAATGTTGA	NONE	.	.	Prints_domain:PR00315,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.14)	.	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Ile10Val,ENST00000356303,;EEF1A1,missense_variant,p.Ile10Val,ENST00000455918,;EEF1A1,missense_variant,p.Ile10Val,ENST00000309268,;EEF1A1,missense_variant,p.Ile10Val,ENST00000316292,;EEF1A1,missense_variant,p.Ile10Val,ENST00000331523,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;EEF1A1,upstream_gene_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;	1020	15	13	SUCCESS
MANEA	79694	.	GRCh37	6	96034461	96034461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	40	0	ENST00000358812.4:c.146A>G	p.His49Arg	p.H49R	ENST00000358812	NM_024641.3	49	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS5032.1	146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCATCAAC	NONE	.	.	hmmpanther:PTHR13572:SF1,hmmpanther:PTHR13572	.	.	ENSP00000351669	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000358812	Transcript	.	.	ENSG00000172469	21072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.68)	.	MANEA_HUMAN	MANEA	HGNC	.	.	UPI000020DF99	SNV	MANEA,missense_variant,p.His49Arg,ENST00000369293,;MANEA,missense_variant,p.His49Arg,ENST00000358812,;MANEA,upstream_gene_variant,,ENST00000474553,;	280	40	33	SUCCESS
COG5	10466	.	GRCh37	7	106921825	106921827	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	CAG	CAG	.	.	.	.	.	.	.	.	.	.	.	.	.	85	18	90	0	ENST00000347053.3:c.1586_1588del	p.Ala529del	p.A529del	ENST00000347053	NM_181733.2	529	gCTGtt/gtt	0	.	.	.	.	.	-	AV/V	protein_coding	YES	CCDS5742.1	1586-1588	INDELOCATOR*|VARSCANI*|PINDEL	.	TATCAACAGCAGCA	NONE	.	.	hmmpanther:PTHR13228:SF3,hmmpanther:PTHR13228	.	.	ENSP00000297135	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000297135	Transcript	.	.	ENSG00000164597	14857	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COG5_HUMAN	COG5	HGNC	U3KQU7_HUMAN,B3KMW0_HUMAN	.	UPI0000246D05	deletion	COG5,inframe_deletion,p.Ala529del,ENST00000347053,;COG5,inframe_deletion,p.Ala529del,ENST00000393603,;COG5,inframe_deletion,p.Ala529del,ENST00000297135,;	2111-2113	90	103	SUCCESS
NRCAM	4897	.	GRCh37	7	107799966	107799966	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752242250	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	80	0	ENST00000379028.3:c.3619C>T	p.His1207Tyr	p.H1207Y	ENST00000379028		1207	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS47686.1	3619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATGGGCAT	NONE	.	.	hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Pfam_domain:PF13882	.	.	ENSP00000368314	.	32/33	.	.	.	.	.	.	.	.	rs752242250	32/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	deleterious(0.03)	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,missense_variant,p.His1207Tyr,ENST00000379022,;NRCAM,missense_variant,p.His1086Tyr,ENST00000351718,;NRCAM,missense_variant,p.His106Tyr,ENST00000445634,;NRCAM,missense_variant,p.His1083Tyr,ENST00000413765,;NRCAM,missense_variant,p.His1095Tyr,ENST00000379024,;NRCAM,missense_variant,p.His1207Tyr,ENST00000379028,;NRCAM,missense_variant,p.His1207Tyr,ENST00000425651,;NRCAM,non_coding_transcript_exon_variant,,ENST00000465585,;NRCAM,upstream_gene_variant,,ENST00000522550,;NRCAM,non_coding_transcript_exon_variant,,ENST00000415105,;	4090	80	82	SUCCESS
DOCK4	9732	.	GRCh37	7	111387428	111387428	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	59	1	ENST00000437633.1:c.4461T>C	p.Ile1487=	p.I1487=	ENST00000437633	NM_014705.3	1487	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS47688.1	4461	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGACTAATCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75,Pfam_domain:PF06920	.	.	ENSP00000404179	.	42/52	.	.	.	.	.	.	.	.	.	42/52	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,synonymous_variant,p.%3D,ENST00000445943,;DOCK4,synonymous_variant,p.%3D,ENST00000428084,;DOCK4,synonymous_variant,p.%3D,ENST00000494651,;DOCK4,synonymous_variant,p.%3D,ENST00000423057,;DOCK4,synonymous_variant,p.%3D,ENST00000437633,;	4718	60	54	SUCCESS
TMEM176A	55365	.	GRCh37	7	150501448	150501448	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	99	0	ENST00000004103.3:c.556-2A>G		p.X186_splice	ENST00000004103	NM_018487.2	186		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5909.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGGCCT	NONE	.	.	.	.	.	ENSP00000417626	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000484928	Transcript	.	.	ENSG00000002933	24930	.	.	HIGH	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T176A_HUMAN	TMEM176A	HGNC	C9JRT9_HUMAN,C9JJ63_HUMAN	.	UPI000006E9AA	SNV	TMEM176A,splice_acceptor_variant,,ENST00000461345,;TMEM176A,splice_acceptor_variant,,ENST00000004103,;TMEM176A,splice_acceptor_variant,,ENST00000475536,;TMEM176A,splice_acceptor_variant,,ENST00000484928,;TMEM176B,upstream_gene_variant,,ENST00000447204,;TMEM176B,upstream_gene_variant,,ENST00000450753,;TMEM176B,upstream_gene_variant,,ENST00000326442,;TMEM176A,downstream_gene_variant,,ENST00000468689,;TMEM176B,upstream_gene_variant,,ENST00000434545,;TMEM176B,upstream_gene_variant,,ENST00000492607,;TMEM176A,splice_acceptor_variant,,ENST00000494349,;TMEM176A,splice_acceptor_variant,,ENST00000474166,;TMEM176A,splice_acceptor_variant,,ENST00000475007,;TMEM176A,intron_variant,,ENST00000462826,;TMEM176A,intron_variant,,ENST00000481305,;TMEM176A,downstream_gene_variant,,ENST00000475710,;	.	99	100	SUCCESS
KMT2C	58508	.	GRCh37	7	151860411	151860411	+	synonymous_variant	Silent	SNP	C	C	T	rs1003521577	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	79	183	0	ENST00000262189.6:c.10251G>A	p.Gln3417=	p.Q3417=	ENST00000262189	NM_170606.2	3417	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS5931.1	10251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCTGCAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	43/59	.	.	.	.	.	.	.	.	.	43/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,synonymous_variant,p.%3D,ENST00000355193,;KMT2C,synonymous_variant,p.%3D,ENST00000424877,;KMT2C,synonymous_variant,p.%3D,ENST00000360104,;KMT2C,synonymous_variant,p.%3D,ENST00000262189,;KMT2C,upstream_gene_variant,,ENST00000418061,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	10470	183	209	SUCCESS
PCLO	27445	.	GRCh37	7	82791801	82791801	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	36	97	0	ENST00000333891.9:c.108G>T	p.Ala36=	p.A36=	ENST00000333891	NM_033026.5	36	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47630.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATCGCGGT	NONE	.	.	.	.	.	ENSP00000334319	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;	446	97	65	SUCCESS
SEMA3A	10371	.	GRCh37	7	83689778	83689778	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	79	0	ENST00000265362.4:c.547+3G>A		p.X183_splice	ENST00000265362	NM_006080.2	183		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5599.1	.	RADIA|MUSE|VARSCANS	.	CTACGCACCTA	NONE	.	.	.	.	.	ENSP00000265362	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	LOW	5/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,splice_region_variant,,ENST00000265362,;SEMA3A,splice_region_variant,,ENST00000436949,;	.	79	84	SUCCESS
RP1L1	94137	.	GRCh37	8	10468548	10468548	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	37	91	0	ENST00000382483.3:c.3060G>A	p.Gln1020=	p.Q1020=	ENST00000382483	NM_178857.5	1020	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS43708.1	3060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCTGGCC	NONE	.	.	hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	.	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,synonymous_variant,p.%3D,ENST00000382483,;	3284	91	77	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110447476	110447476	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	103	0	ENST00000378402.5:c.3398T>G	p.Val1133Gly	p.V1133G	ENST00000378402	NM_177531.4	1133	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS47911.1	3398	MUTECT|MUSE	.	TGCTGTGTCCA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000367655	.	29/78	.	.	.	.	.	.	.	.	.	29/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Val1133Gly,ENST00000378402,;	3502	103	106	SUCCESS
PUF60	22827	.	GRCh37	8	144899577	144899577	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	77	145	0	ENST00000526683.1:c.1068A>T	p.Pro356=	p.P356=	ENST00000526683	NM_001271098.1	356	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47934.1	1068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCTGGGGA	NONE	.	.	hmmpanther:PTHR24011:SF246,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01645	.	.	ENSP00000434359	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000526683	Transcript	.	.	ENSG00000179950	17042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUF60_HUMAN	PUF60	HGNC	.	.	UPI00000713CF	SNV	PUF60,synonymous_variant,p.%3D,ENST00000349157,;PUF60,synonymous_variant,p.%3D,ENST00000313352,;PUF60,synonymous_variant,p.%3D,ENST00000527197,;PUF60,synonymous_variant,p.%3D,ENST00000526683,;PUF60,synonymous_variant,p.%3D,ENST00000453551,;PUF60,synonymous_variant,p.%3D,ENST00000456095,;PUF60,synonymous_variant,p.%3D,ENST00000532884,;PUF60,downstream_gene_variant,,ENST00000529999,;PUF60,downstream_gene_variant,,ENST00000531897,;SCRIB,upstream_gene_variant,,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000527744,;SCRIB,upstream_gene_variant,,ENST00000356994,;PUF60,downstream_gene_variant,,ENST00000533162,;PUF60,downstream_gene_variant,,ENST00000526459,;SCRIB,upstream_gene_variant,,ENST00000320476,;MIR937,upstream_gene_variant,,ENST00000401271,;PUF60,non_coding_transcript_exon_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000531951,;PUF60,downstream_gene_variant,,ENST00000533362,;PUF60,downstream_gene_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000528320,;PUF60,downstream_gene_variant,,ENST00000529693,;PUF60,downstream_gene_variant,,ENST00000531995,;PUF60,downstream_gene_variant,,ENST00000526151,;PUF60,downstream_gene_variant,,ENST00000532127,;PUF60,downstream_gene_variant,,ENST00000527584,;	1624	145	174	SUCCESS
PARP10	84875	.	GRCh37	8	145059302	145059302	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199611396	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	71	0	ENST00000313028.7:c.868G>T	p.Ala290Ser	p.A290S	ENST00000313028	NM_032789.3	290	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34960.1	868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCACCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF55	.	.	ENSP00000325618	.	5/11	.	.	.	.	.	.	.	.	rs199611396	5/11	PASS	ENST00000313028	Transcript	.	.	ENSG00000178685	25895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.38)	.	PAR10_HUMAN	PARP10	HGNC	E9PSG8_HUMAN,E9PSE7_HUMAN,E9PQQ6_HUMAN,E9PPV8_HUMAN,E9PPU2_HUMAN,E9PM86_HUMAN,E9PLE8_HUMAN,E9PJI2_HUMAN,E9PIA6_HUMAN	.	UPI0000251FAB	SNV	PARP10,missense_variant,p.Ala290Ser,ENST00000313028,;PARP10,missense_variant,p.Ala290Ser,ENST00000524918,;PARP10,missense_variant,p.Ala205Ser,ENST00000313059,;PARP10,missense_variant,p.Ala302Ser,ENST00000525773,;PARP10,downstream_gene_variant,,ENST00000528914,;PARP10,downstream_gene_variant,,ENST00000525879,;PARP10,downstream_gene_variant,,ENST00000529842,;PARP10,downstream_gene_variant,,ENST00000529311,;PARP10,downstream_gene_variant,,ENST00000528625,;GRINA,upstream_gene_variant,,ENST00000313269,;PARP10,downstream_gene_variant,,ENST00000532311,;PARP10,downstream_gene_variant,,ENST00000531537,;PARP10,downstream_gene_variant,,ENST00000528136,;PARP10,downstream_gene_variant,,ENST00000531707,;PARP10,downstream_gene_variant,,ENST00000525486,;PARP10,downstream_gene_variant,,ENST00000530478,;GRINA,upstream_gene_variant,,ENST00000395068,;GRINA,upstream_gene_variant,,ENST00000529301,;PARP10,non_coding_transcript_exon_variant,,ENST00000533665,;PARP10,downstream_gene_variant,,ENST00000534737,;PARP10,downstream_gene_variant,,ENST00000532660,;PARP10,missense_variant,p.Ala290Ser,ENST00000527262,;PARP10,upstream_gene_variant,,ENST00000526007,;PARP10,downstream_gene_variant,,ENST00000526985,;PARP10,downstream_gene_variant,,ENST00000528580,;PARP10,upstream_gene_variant,,ENST00000528963,;	963	71	75	SUCCESS
MICU3	286097	.	GRCh37	8	16921654	16921654	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	91	0	ENST00000318063.5:c.443del	p.Arg148HisfsTer8	p.R148Hfs*8	ENST00000318063	NM_181723.2	148	cGa/ca	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS5999.1	443	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGGCGATTTC	CODON|p.R148*|c.442C>T|3	.	.	hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF10,Gene3D:1.10.238.10	.	.	ENSP00000321455	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000318063	Transcript	.	.	ENSG00000155970	27820	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MICU3_HUMAN	MICU3	HGNC	.	.	UPI000000DAE7	deletion	MICU3,frameshift_variant,p.Arg6HisfsTer8,ENST00000519044,;MICU3,frameshift_variant,p.Arg148HisfsTer8,ENST00000318063,;MICU3,upstream_gene_variant,,ENST00000517398,;MICU3,non_coding_transcript_exon_variant,,ENST00000522235,;MICU3,upstream_gene_variant,,ENST00000517447,;	485	91	83	SUCCESS
TTI2	80185	.	GRCh37	8	33370119	33370119	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767555250	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	35	0	ENST00000360742.5:c.13A>G	p.Ser5Gly	p.S5G	ENST00000360742	NM_025115.3	5	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS6090.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCTGTCAA	NONE	.	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1	.	.	ENSP00000411169	.	2/8	.	.	.	.	.	.	.	.	rs767555250	2/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.48)	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,missense_variant,p.Ser5Gly,ENST00000431156,;TTI2,missense_variant,p.Ser5Gly,ENST00000520636,;TTI2,missense_variant,p.Ser5Gly,ENST00000360742,;TTI2,missense_variant,p.Ser5Gly,ENST00000523305,;SNORD13,upstream_gene_variant,,ENST00000459299,;TTI2,upstream_gene_variant,,ENST00000519356,;	632	35	34	SUCCESS
CHD7	55636	.	GRCh37	8	61764754	61764754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	48	103	0	ENST00000423902.2:c.5842G>A	p.Val1948Met	p.V1948M	ENST00000423902	NM_017780.3	1948	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS47865.1	5842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGTGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	.	.	ENSP00000392028	.	29/38	.	.	.	.	.	.	.	.	.	29/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,missense_variant,p.Val1948Met,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;CHD7,non_coding_transcript_exon_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000531695,;	6321	103	113	SUCCESS
PPP1R42	286187	.	GRCh37	8	67926750	67926750	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	79	0	ENST00000324682.5:c.207T>C	p.Asn69=	p.N69=	ENST00000324682	NM_001013626.2	69	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS34902.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATAATTCAG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF227,Gene3D:3.80.10.10,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000315035	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000324682	Transcript	.	.	ENSG00000178125	33732	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR42_HUMAN	PPP1R42	HGNC	.	.	UPI00001B5D21	SNV	PPP1R42,synonymous_variant,p.%3D,ENST00000522909,;PPP1R42,synonymous_variant,p.%3D,ENST00000324682,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000521581,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000521040,;PPP1R42,intron_variant,,ENST00000517834,;PPP1R42,intron_variant,,ENST00000520633,;PPP1R42,upstream_gene_variant,,ENST00000521410,;PPP1R42,downstream_gene_variant,,ENST00000523545,;PPP1R42,upstream_gene_variant,,ENST00000519919,;PPP1R42,upstream_gene_variant,,ENST00000519987,;PPP1R42,upstream_gene_variant,,ENST00000518588,;	352	79	75	SUCCESS
CPQ	10404	.	GRCh37	8	97847252	97847252	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	79	199	0	ENST00000220763.5:c.485G>C	p.Arg162Thr	p.R162T	ENST00000220763	NM_016134.3	162	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS6273.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGGGCCT	NONE	.	.	hmmpanther:PTHR12053	.	.	ENSP00000220763	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000220763	Transcript	.	.	ENSG00000104324	16910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.16)	.	CBPQ_HUMAN	CPQ	HGNC	E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN	.	UPI00000706B8	SNV	CPQ,missense_variant,p.Arg162Thr,ENST00000517742,;CPQ,missense_variant,p.Arg162Thr,ENST00000220763,;	695	199	215	SUCCESS
ABCA1	19	.	GRCh37	9	107607783	107607783	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs763689519	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	78	0	ENST00000374736.3:c.788A>G	p.His263Arg	p.H263R	ENST00000374736	NM_005502.3	263	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS6762.1	788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTATGCAGC	NONE	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229	.	.	ENSP00000363868	.	8/50	.	.	.	.	.	.	.	.	rs763689519	8/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.34)	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.His263Arg,ENST00000374736,;	1183	78	70	SUCCESS
TPRN	286262	.	GRCh37	9	140093940	140093940	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	95	0	ENST00000409012.4:c.1224C>A	p.Asp408Glu	p.D408E	ENST00000409012	NM_001128228.2	408	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS56594.1	1224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGTCAGC	NONE	.	.	hmmpanther:PTHR21685:SF1,hmmpanther:PTHR21685	.	.	ENSP00000387100	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000409012	Transcript	.	.	ENSG00000176058	26894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.817)	.	tolerated(0.16)	.	TPRN_HUMAN	TPRN	HGNC	Q86WR5_HUMAN	.	UPI0001722188	SNV	TPRN,missense_variant,p.Asp408Glu,ENST00000409012,;TPRN,missense_variant,p.Asp206Glu,ENST00000333046,;TPRN,missense_variant,p.Asp347Glu,ENST00000321773,;TMEM203,downstream_gene_variant,,ENST00000343666,;TPRN,intron_variant,,ENST00000541945,;TPRN,upstream_gene_variant,,ENST00000477345,;	1311	95	64	SUCCESS
KLHL9	55958	.	GRCh37	9	21335316	21335316	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	79	1	ENST00000359039.4:c.-458G>A		p.*153*	ENST00000359039				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6503.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAACACAGGCC	NONE	.	.	.	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,5_prime_UTR_variant,,ENST00000359039,;KLHL9,upstream_gene_variant,,ENST00000537938,;	64	80	87	SUCCESS
DNAI1	27019	.	GRCh37	9	34514529	34514529	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	13	84	0	ENST00000242317.4:c.1707C>T	p.Asp569=	p.D569=	ENST00000242317	NM_012144.3	569	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS6557.1	1707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACCACAC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF11,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000242317	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000242317	Transcript	.	.	ENSG00000122735	2954	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNAI1_HUMAN	DNAI1	HGNC	.	.	UPI0000129A09	SNV	DNAI1,synonymous_variant,p.%3D,ENST00000442556,;DNAI1,synonymous_variant,p.%3D,ENST00000242317,;DNAI1,non_coding_transcript_exon_variant,,ENST00000485580,;DNAI1,intron_variant,,ENST00000470169,;	1878	84	85	SUCCESS
SPATA6L	55064	.	GRCh37	9	4666386	4666386	+	5_prime_UTR_variant,NMD_transcript_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	26	0	ENST00000461761.1:c.-136G>A		p.*46*	ENST00000461761				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43785.2	.	MUTECT|MUSE	.	TTCCCCTACCG	NONE	.	.	.	.	.	ENSP00000417063	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000475086	Transcript	.	.	ENSG00000106686	25472	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPA6L_HUMAN	SPATA6L	HGNC	.	.	UPI00017A72EF	SNV	SPATA6L,5_prime_UTR_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000454239,;PPAPDC2,downstream_gene_variant,,ENST00000381883,;SPATA6L,upstream_gene_variant,,ENST00000381890,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000485981,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000497383,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000496798,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,5_prime_UTR_variant,,ENST00000461761,;SPATA6L,5_prime_UTR_variant,,ENST00000406861,;SPATA6L,5_prime_UTR_variant,,ENST00000486047,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,upstream_gene_variant,,ENST00000471669,;	.	26	25	SUCCESS
TLE4	7091	.	GRCh37	9	82320836	82320836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	44	305	0	ENST00000376552.2:c.762G>T	p.Leu254Phe	p.L254F	ENST00000376552	NM_007005.3	254	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS43837.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGGTGGT	NONE	.	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21	.	.	ENSP00000365735	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.Leu254Phe,ENST00000376552,;TLE4,missense_variant,p.Leu254Phe,ENST00000376537,;TLE4,missense_variant,p.Leu254Phe,ENST00000376520,;TLE4,missense_variant,p.Leu124Phe,ENST00000490347,;TLE4,missense_variant,p.Leu229Phe,ENST00000265284,;TLE4,missense_variant,p.Leu45Phe,ENST00000496114,;TLE4,missense_variant,p.Leu239Phe,ENST00000428713,;TLE4,5_prime_UTR_variant,,ENST00000376534,;TLE4,intron_variant,,ENST00000376544,;TLE4,intron_variant,,ENST00000467142,;TLE4,upstream_gene_variant,,ENST00000417836,;TLE4,non_coding_transcript_exon_variant,,ENST00000463431,;TLE4,upstream_gene_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,non_coding_transcript_exon_variant,,ENST00000495170,;	1780	305	144	SUCCESS
TLE4	7091	.	GRCh37	9	82320837	82320837	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778636588	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	41	302	0	ENST00000376552.2:c.763G>T	p.Val255Leu	p.V255L	ENST00000376552	NM_007005.3	255	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS43837.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGTGGTT	NONE	.	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21	.	.	ENSP00000365735	.	10/20	.	.	.	.	.	.	.	.	rs778636588	10/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.321)	.	tolerated(0.06)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.Val255Leu,ENST00000376552,;TLE4,missense_variant,p.Val255Leu,ENST00000376537,;TLE4,missense_variant,p.Val255Leu,ENST00000376520,;TLE4,missense_variant,p.Val125Leu,ENST00000490347,;TLE4,missense_variant,p.Val230Leu,ENST00000265284,;TLE4,missense_variant,p.Val46Leu,ENST00000496114,;TLE4,missense_variant,p.Val240Leu,ENST00000428713,;TLE4,5_prime_UTR_variant,,ENST00000376534,;TLE4,intron_variant,,ENST00000376544,;TLE4,intron_variant,,ENST00000467142,;TLE4,upstream_gene_variant,,ENST00000417836,;TLE4,non_coding_transcript_exon_variant,,ENST00000463431,;TLE4,upstream_gene_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,non_coding_transcript_exon_variant,,ENST00000495170,;	1781	302	141	SUCCESS
SPATA31D1	389763	.	GRCh37	9	84608679	84608679	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773766968	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	93	1	ENST00000344803.2:c.3294C>A	p.Asp1098Glu	p.D1098E	ENST00000344803	NM_001001670.2	1098	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS47986.1	3294	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTAGACGAAGT	NONE	byFrequency	.	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	.	.	ENSP00000341988	.	4/4	.	.	.	.	.	.	.	.	rs773766968	4/4	PASS	ENST00000344803	Transcript	.	.	ENSG00000214929	37283	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.081)	.	tolerated(0.48)	.	S31D1_HUMAN	SPATA31D1	HGNC	.	.	UPI00001C10A6	SNV	SPATA31D1,missense_variant,p.Asp1098Glu,ENST00000344803,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	3341	94	47	SUCCESS
FRMPD3	84443	.	GRCh37	X	106845159	106845159	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1171820532	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	79	0	ENST00000276185.4:c.3989G>A	p.Arg1330His	p.R1330H	ENST00000276185		1330	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	.	3989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGCAGCT	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6	.	.	ENSP00000276185	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,missense_variant,p.Arg1330His,ENST00000276185,;FRMPD3,missense_variant,p.Arg1278His,ENST00000439554,;	3989	79	48	SUCCESS
IRS4	8471	.	GRCh37	X	107977917	107977917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	53	0	ENST00000372129.2:c.1658C>T	p.Ala553Val	p.A553V	ENST00000372129	NM_003604.2	553	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS14544.1	1658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGCGGTG	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Ala553Val,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	1735	53	37	SUCCESS
HTR2C	3358	.	GRCh37	X	114141440	114141440	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs77459121	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	146	0	ENST00000276198.1:c.839C>T	p.Pro280Leu	p.P280L	ENST00000276198	NM_000868.2	280	cCt/cTt	0	.	T:0	.	T:0.0014	.	T	P/L	protein_coding	YES	CCDS14564.1	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCCTAACC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247,Pfam_domain:PF00001,Prints_domain:PR00517	T:0	.	ENSP00000276198	T:0	6/6	.	.	.	.	.	.	.	.	rs77459121	6/6	PASS	ENST00000276198	Transcript	.	T:0.0003	ENSG00000147246	5295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	T:0	tolerated(0.1)	.	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,missense_variant,p.Pro280Leu,ENST00000276198,;HTR2C,missense_variant,p.Pro280Leu,ENST00000371951,;HTR2C,synonymous_variant,p.%3D,ENST00000371950,;	1567	146	124	SUCCESS
RBMXL3	139804	.	GRCh37	X	114424158	114424158	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1018716849	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	298	62	336	0	ENST00000424776.3:c.154G>A	p.Ala52Thr	p.A52T	ENST00000424776	NM_001145346.1	52	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS55478.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGCGTTC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0.01)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Ala52Thr,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	196	336	361	SUCCESS
STAG2	10735	.	GRCh37	X	123195634	123195634	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	23	134	0	ENST00000218089.9:c.1548G>A	p.Arg516=	p.R516=	ENST00000218089	NM_001042749.1	516	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS43990.1	1548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAGGCAAGA	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	.	.	ENSP00000218089	.	17/35	.	.	.	.	.	.	.	.	COSM1465372,COSM1465371	17/35	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	SNV	STAG2,synonymous_variant,p.%3D,ENST00000371160,;STAG2,synonymous_variant,p.%3D,ENST00000354548,;STAG2,synonymous_variant,p.%3D,ENST00000371157,;STAG2,synonymous_variant,p.%3D,ENST00000371144,;STAG2,synonymous_variant,p.%3D,ENST00000455404,;STAG2,synonymous_variant,p.%3D,ENST00000218089,;STAG2,synonymous_variant,p.%3D,ENST00000371145,;STAG2,non_coding_transcript_exon_variant,,ENST00000483575,;STAG2,non_coding_transcript_exon_variant,,ENST00000466748,;STAG2,non_coding_transcript_exon_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;	2058	134	134	SUCCESS
MIR452	574412	.	GRCh37	X	151128155	151128155	+	mature_miRNA_variant	RNA	SNP	T	T	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	24	165	0	ENST00000385020.1:n.30A>T		p.*10*	ENST00000385020				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14703.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTTTCCTC	NONE	.	.	.	.	.	ENSP00000359353	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370328	Transcript	.	.	ENSG00000102287	4085	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBRE_HUMAN	GABRE	HGNC	.	.	UPI00000307E6	SNV	GABRE,intron_variant,,ENST00000370328,;GABRE,intron_variant,,ENST00000393914,;GABRE,intron_variant,,ENST00000370325,;MIR452,mature_miRNA_variant,,ENST00000385020,;AF274855.1,upstream_gene_variant,,ENST00000582865,;MIR224,upstream_gene_variant,,ENST00000384889,;GABRE,upstream_gene_variant,,ENST00000462018,;GABRE,upstream_gene_variant,,ENST00000483564,;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,;GABRE,intron_variant,,ENST00000441219,;GABRE,intron_variant,,ENST00000476016,;GABRE,upstream_gene_variant,,ENST00000495862,;GABRE,downstream_gene_variant,,ENST00000474932,;GABRE,upstream_gene_variant,,ENST00000489333,;	.	165	173	SUCCESS
PLXNB3	5365	.	GRCh37	X	153035892	153035892	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782036174	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	59	164	0	ENST00000361971.5:c.1886C>A	p.Ala629Glu	p.A629E	ENST00000361971	NM_005393.2	629	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS55536.1	1955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGGCTG	NONE	byFrequency	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00423	.	.	ENSP00000442736	.	10/37	.	.	.	.	.	.	.	.	rs782036174	10/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(1)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Ala179Glu,ENST00000538543,;PLXNB3,missense_variant,p.Ala239Glu,ENST00000538282,;PLXNB3,missense_variant,p.Ala652Glu,ENST00000538966,;PLXNB3,missense_variant,p.Ala282Glu,ENST00000538776,;PLXNB3,missense_variant,p.Ala629Glu,ENST00000361971,;PLXNB3,upstream_gene_variant,,ENST00000411613,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;PLXNB3,upstream_gene_variant,,ENST00000482654,;	2226	164	143	SUCCESS
PLXNB3	5365	.	GRCh37	X	153042728	153042728	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372327696	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	41	122	0	ENST00000361971.5:c.4993G>A	p.Glu1665Lys	p.E1665K	ENST00000361971	NM_005393.2	1665	Gag/Aag	0	A:0	A:0.0008	.	A:0	.	A	E/K	protein_coding	YES	CCDS55536.1	5062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGAGGAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Pfam_domain:PF08337	A:0	A:0.0001	ENSP00000442736	A:0	31/37	.	.	.	.	.	.	.	.	rs372327696,COSM1466609	31/37	PASS	ENST00000538966	Transcript	.	A:0.0003	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.937)	A:0	deleterious(0)	0,1	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Glu1688Lys,ENST00000538966,;PLXNB3,missense_variant,p.Glu1318Lys,ENST00000538776,;PLXNB3,missense_variant,p.Glu1665Lys,ENST00000361971,;SRPK3,5_prime_UTR_variant,,ENST00000489426,;PLXNB3,downstream_gene_variant,,ENST00000411613,;SRPK3,upstream_gene_variant,,ENST00000370108,;SRPK3,upstream_gene_variant,,ENST00000370100,;PLXNB3,downstream_gene_variant,,ENST00000455214,;PLXNB3,upstream_gene_variant,,ENST00000448847,;SRPK3,upstream_gene_variant,,ENST00000430541,;SRPK3,upstream_gene_variant,,ENST00000393786,;PLXNB3,downstream_gene_variant,,ENST00000538282,;SRPK3,upstream_gene_variant,,ENST00000370104,;SRPK3,upstream_gene_variant,,ENST00000370101,;PLXNB3,non_coding_transcript_exon_variant,,ENST00000485980,;PLXNB3,upstream_gene_variant,,ENST00000472415,;PLXNB3,upstream_gene_variant,,ENST00000469190,;PLXNB3,downstream_gene_variant,,ENST00000482654,;	5333	122	108	SUCCESS
MXRA5	25878	.	GRCh37	X	3248325	3248325	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	235	49	330	0	ENST00000217939.6:c.443A>C	p.Asn148Thr	p.N148T	ENST00000217939	NM_015419.3	148	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS14124.1	443	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGTTGAAA	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000217939	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.438)	.	tolerated(0.2)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Asn148Thr,ENST00000217939,;	598	330	284	SUCCESS
MAGED1	9500	.	GRCh37	X	51638377	51638377	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	115	0	ENST00000326587.7:c.274T>C	p.Tyr92His	p.Y92H	ENST00000326587	NM_006986.3	92	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS35279.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCTATGAT	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF28	.	.	ENSP00000364847	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000375695	Transcript	.	.	ENSG00000179222	6813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.11)	.	MAGD1_HUMAN	MAGED1	HGNC	.	.	UPI0000074161	SNV	MAGED1,missense_variant,p.Tyr92His,ENST00000326587,;MAGED1,missense_variant,p.Tyr92His,ENST00000375722,;MAGED1,missense_variant,p.Tyr148His,ENST00000375695,;MAGED1,missense_variant,p.Tyr92His,ENST00000375772,;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,non_coding_transcript_exon_variant,,ENST00000482188,;MAGED1,non_coding_transcript_exon_variant,,ENST00000470461,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,upstream_gene_variant,,ENST00000482599,;	595	115	113	SUCCESS
KDM5C	8242	.	GRCh37	X	53246991	53246991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	40	219	0	ENST00000375401.3:c.509G>T	p.Gly170Val	p.G170V	ENST00000375401	NM_004187.3	170	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS14351.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCCAGAC	NONE	.	.	hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,Gene3D:1.10.150.60,SMART_domains:SM00501,Superfamily_domains:SSF46774	.	.	ENSP00000364550	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000375401	Transcript	.	.	ENSG00000126012	11114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KDM5C_HUMAN	KDM5C	HGNC	.	.	UPI000013CBE3	SNV	KDM5C,missense_variant,p.Gly103Val,ENST00000452825,;KDM5C,missense_variant,p.Gly170Val,ENST00000375379,;KDM5C,missense_variant,p.Gly170Val,ENST00000404049,;KDM5C,missense_variant,p.Gly129Val,ENST00000375383,;KDM5C,missense_variant,p.Gly170Val,ENST00000375401,;KDM5C-IT1,upstream_gene_variant,,ENST00000412242,;KDM5C,downstream_gene_variant,,ENST00000495519,;KDM5C,downstream_gene_variant,,ENST00000467093,;KDM5C,upstream_gene_variant,,ENST00000497995,;KDM5C,downstream_gene_variant,,ENST00000428012,;KDM5C,downstream_gene_variant,,ENST00000429877,;KDM5C,downstream_gene_variant,,ENST00000349663,;	1042	219	206	SUCCESS
IQSEC2	23096	.	GRCh37	X	53277365	53277365	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	9	136	0	ENST00000396435.3:c.2513G>A	p.Arg838Gln	p.R838Q	ENST00000396435	NM_001111125.2	838	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS48130.1	2513	MUTECT|MUSE	.	ACTTCCGGAGC	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF61,Pfam_domain:PF01369,Gene3D:1.10.1000.11,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000379712	.	7/15	.	.	.	.	.	.	.	.	COSM1468541,COSM1468540	7/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,missense_variant,p.Arg633Gln,ENST00000375365,;IQSEC2,missense_variant,p.Arg828Gln,ENST00000375368,;IQSEC2,missense_variant,p.Arg838Gln,ENST00000396435,;	2714	136	136	SUCCESS
WNT8B	7479	.	GRCh37	10	102239757	102239757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	40	0	ENST00000343737.5:c.229G>A	p.Gly77Arg	p.G77R	ENST00000343737	NM_003393.3	77	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS7494.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGGGCTT	BUFFER|p.R79C|c.235C>T|3	.	.	hmmpanther:PTHR12027:SF94,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000340677	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000343737	Transcript	.	.	ENSG00000075290	12789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(1)	.	WNT8B_HUMAN	WNT8B	HGNC	.	.	UPI000013D6C5	SNV	WNT8B,missense_variant,p.Gly77Arg,ENST00000343737,;	357	40	33	SUCCESS
TUBAL3	79861	.	GRCh37	10	5442825	5442825	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	61	0	ENST00000380419.3:c.229T>A	p.Leu77Met	p.L77M	ENST00000380419	NM_024803.2	77	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS7066.2	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAAGTCCA	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF77,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000369784	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000380419	Transcript	.	.	ENSG00000178462	23534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	TBAL3_HUMAN	TUBAL3	HGNC	.	.	UPI00000497AE	SNV	TUBAL3,missense_variant,p.Leu37Met,ENST00000479328,;TUBAL3,missense_variant,p.Leu77Met,ENST00000380419,;	267	61	67	SUCCESS
PFKFB3	5209	.	GRCh37	10	6245052	6245052	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	27	0	ENST00000379775.4:c.-172G>T		p.*58*	ENST00000379775	NM_004566.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7078.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGAGGGT	NONE	.	.	.	.	.	ENSP00000369100	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,5_prime_UTR_variant,,ENST00000379785,;PFKFB3,5_prime_UTR_variant,,ENST00000317350,;PFKFB3,5_prime_UTR_variant,,ENST00000379782,;PFKFB3,5_prime_UTR_variant,,ENST00000360521,;PFKFB3,5_prime_UTR_variant,,ENST00000379775,;PFKFB3,intron_variant,,ENST00000540253,;PFKFB3,intron_variant,,ENST00000536985,;PFKFB3,intron_variant,,ENST00000379789,;RP11-414H17.5,upstream_gene_variant,,ENST00000427630,;PFKFB3,5_prime_UTR_variant,,ENST00000467491,;PFKFB3,5_prime_UTR_variant,,ENST00000477914,;PFKFB3,5_prime_UTR_variant,,ENST00000461744,;PFKFB3,5_prime_UTR_variant,,ENST00000490474,;	159	27	23	SUCCESS
USP54	159195	.	GRCh37	10	75276369	75276369	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	54	0	ENST00000339859.4:c.3815C>G	p.Ser1272Cys	p.S1272C	ENST00000339859		1272	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS7329.2	3815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGAATCA	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5	.	.	ENSP00000345216	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000339859	Transcript	.	.	ENSG00000166348	23513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.03)	.	UBP54_HUMAN	USP54	HGNC	.	.	UPI0000DFF136	SNV	USP54,missense_variant,p.Ser1122Cys,ENST00000428547,;USP54,missense_variant,p.Ser1272Cys,ENST00000339859,;USP54,missense_variant,p.Ser1272Cys,ENST00000408019,;USP54,missense_variant,p.Ser454Cys,ENST00000422491,;USP54,missense_variant,p.Ser360Cys,ENST00000394811,;RP11-137L10.6,intron_variant,,ENST00000600206,;RP11-137L10.6,intron_variant,,ENST00000597958,;RP11-137L10.6,intron_variant,,ENST00000595069,;RP11-137L10.6,intron_variant,,ENST00000593790,;RP11-137L10.6,downstream_gene_variant,,ENST00000600607,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,3_prime_UTR_variant,,ENST00000418501,;USP54,3_prime_UTR_variant,,ENST00000466048,;USP54,3_prime_UTR_variant,,ENST00000424265,;USP54,downstream_gene_variant,,ENST00000498143,;	3916	54	66	SUCCESS
EXPH5	23086	.	GRCh37	11	108381599	108381599	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	85	0	ENST00000265843.4:c.4635G>A	p.Gln1545=	p.Q1545=	ENST00000265843	NM_015065.2	1545	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8341.1	4635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCTGACT	NONE	.	.	hmmpanther:PTHR21469	.	.	ENSP00000265843	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000265843	Transcript	.	.	ENSG00000110723	30578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,synonymous_variant,p.%3D,ENST00000428840,;EXPH5,synonymous_variant,p.%3D,ENST00000443411,;EXPH5,synonymous_variant,p.%3D,ENST00000525344,;EXPH5,synonymous_variant,p.%3D,ENST00000526312,;EXPH5,synonymous_variant,p.%3D,ENST00000265843,;EXPH5,downstream_gene_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;	4746	85	84	SUCCESS
UBE4A	9354	.	GRCh37	11	118245829	118245829	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	48	84	0	ENST00000252108.3:c.1335A>G	p.Leu445=	p.L445=	ENST00000252108	NM_001204077.1	445	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8396.1	1356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTATGCCA	NONE	.	.	hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF2,Pfam_domain:PF10408	.	.	ENSP00000387362	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000431736	Transcript	.	.	ENSG00000110344	12499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE4A_HUMAN	UBE4A	HGNC	B7Z7P0_HUMAN	.	UPI000013CD3F	SNV	UBE4A,synonymous_variant,p.%3D,ENST00000252108,;UBE4A,synonymous_variant,p.%3D,ENST00000431736,;UBE4A,upstream_gene_variant,,ENST00000545354,;	1428	84	103	SUCCESS
DCPS	28960	.	GRCh37	11	126201385	126201385	+	synonymous_variant	Silent	SNP	G	G	A	rs776003149	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	23	49	0	ENST00000263579.4:c.462G>A	p.Thr154=	p.T154=	ENST00000263579	NM_014026.3	154	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS8473.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGGGAGA	NONE	.	.	Superfamily_domains:SSF54197,PIRSF_domain:PIRSF028973,hmmpanther:PTHR12978,hmmpanther:PTHR12978:SF0	.	.	ENSP00000263579	.	3/6	.	.	.	.	.	.	.	.	rs776003149	3/6	PASS	ENST00000263579	Transcript	.	.	ENSG00000110063	29812	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCPS_HUMAN	DCPS	HGNC	.	.	UPI000006F1CC	SNV	DCPS,synonymous_variant,p.%3D,ENST00000263579,;DCPS,non_coding_transcript_exon_variant,,ENST00000530860,;DCPS,upstream_gene_variant,,ENST00000529149,;	791	49	42	SUCCESS
SPI1	6688	.	GRCh37	11	47381480	47381480	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	23	0	ENST00000378538.3:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000378538	NM_003120.2	85	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS44591.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGTAGAGC	NONE	.	.	hmmpanther:PTHR11849:SF16,hmmpanther:PTHR11849	.	.	ENSP00000227163	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000227163	Transcript	.	.	ENSG00000066336	11241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0.03)	.	SPI1_HUMAN	SPI1	HGNC	.	.	UPI0000D4ECF1	SNV	SPI1,missense_variant,p.Tyr85Cys,ENST00000378538,;SPI1,missense_variant,p.Tyr86Cys,ENST00000227163,;SPI1,missense_variant,p.Tyr85Cys,ENST00000533968,;SPI1,intron_variant,,ENST00000533030,;	295	23	24	SUCCESS
BTBD18	643376	.	GRCh37	11	57513362	57513362	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	95	0	ENST00000422652.1:c.383G>A	p.Gly128Glu	p.G128E	ENST00000422652	NM_001145101.1	128	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS44603.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCCACCC	NONE	.	.	SMART_domains:SM00225,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF183	.	.	ENSP00000394472	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422652	Transcript	.	.	ENSG00000233436	37214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	deleterious(0.03)	.	BTBDI_HUMAN	BTBD18	HGNC	E9PRF5_HUMAN	.	UPI00006C113A	SNV	BTBD18,missense_variant,p.Gly128Glu,ENST00000436147,;BTBD18,missense_variant,p.Gly128Glu,ENST00000422652,;C11orf31,downstream_gene_variant,,ENST00000534355,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;C11orf31,downstream_gene_variant,,ENST00000528798,;TMX2,downstream_gene_variant,,ENST00000278422,;C11orf31,downstream_gene_variant,,ENST00000388857,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,intron_variant,,ENST00000531074,;C11orf31,downstream_gene_variant,,ENST00000533321,;C11orf31,downstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000529403,;	672	95	102	SUCCESS
OR9Q2	219957	.	GRCh37	11	57958110	57958110	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	42	117	0	ENST00000311591.3:c.148C>T	p.Arg50Cys	p.R50C	ENST00000311591	NM_001005283.2	50	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS31544.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCGTGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF155,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000308714	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311591	Transcript	.	.	ENSG00000186513	15328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.22)	.	OR9Q2_HUMAN	OR9Q2	HGNC	.	.	UPI0000061ECB	SNV	OR9Q2,missense_variant,p.Arg50Cys,ENST00000311591,;	205	117	87	SUCCESS
SUV420H1	0	.	GRCh37	11	67953257	67953257	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	66	0	ENST00000304363.4:c.299T>G	p.Met100Arg	p.M100R	ENST00000304363	NM_017635.3	100	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS31623.1	299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCATTTTG	NONE	.	.	PROSITE_profiles:PS51570,hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10	.	.	ENSP00000305899	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000304363	Transcript	.	.	ENSG00000110066	24283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SV421_HUMAN	SUV420H1	HGNC	E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN	.	UPI00001FADE7	SNV	SUV420H1,missense_variant,p.Met100Arg,ENST00000434573,;SUV420H1,missense_variant,p.Met29Arg,ENST00000458496,;SUV420H1,missense_variant,p.Met29Arg,ENST00000453170,;SUV420H1,missense_variant,p.Met100Arg,ENST00000402789,;SUV420H1,missense_variant,p.Met100Arg,ENST00000405515,;SUV420H1,missense_variant,p.Met100Arg,ENST00000304363,;SUV420H1,missense_variant,p.Met100Arg,ENST00000402185,;SUV420H1,missense_variant,p.Met100Arg,ENST00000401547,;SUV420H1,missense_variant,p.Met100Arg,ENST00000427752,;SUV420H1,missense_variant,p.Met100Arg,ENST00000441488,;SUV420H1,downstream_gene_variant,,ENST00000466295,;	653	66	92	SUCCESS
FAT3	120114	.	GRCh37	11	92531036	92531036	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	67	171	0	ENST00000298047.6:c.4857C>T	p.Val1619=	p.V1619=	ENST00000298047		1619	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	.	4857	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTCCTAGG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;	4874	171	158	SUCCESS
P2RX2	22953	.	GRCh37	12	133197658	133197658	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	21	47	0	ENST00000389110.3:c.846G>A	p.Lys282=	p.K282=	ENST00000389110	NM_170682.2	282	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS31930.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGTACTC	NONE	.	.	hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF4,PROSITE_patterns:PS01212,Pfam_domain:PF00864,TIGRFAM_domain:TIGR00863,Gene3D:3h9vA02	.	.	ENSP00000343339	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000343948	Transcript	.	.	ENSG00000187848	15459	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RX2_HUMAN	P2RX2	HGNC	.	.	UPI000002B04A	SNV	P2RX2,synonymous_variant,p.%3D,ENST00000352418,;P2RX2,synonymous_variant,p.%3D,ENST00000343948,;P2RX2,synonymous_variant,p.%3D,ENST00000389110,;P2RX2,synonymous_variant,p.%3D,ENST00000350048,;P2RX2,synonymous_variant,p.%3D,ENST00000348800,;P2RX2,synonymous_variant,p.%3D,ENST00000351222,;P2RX2,synonymous_variant,p.%3D,ENST00000449132,;P2RX2,downstream_gene_variant,,ENST00000542301,;POLE,downstream_gene_variant,,ENST00000535270,;P2RX2,downstream_gene_variant,,ENST00000536121,;P2RX2,downstream_gene_variant,,ENST00000535910,;POLE,downstream_gene_variant,,ENST00000320574,;POLE,downstream_gene_variant,,ENST00000538196,;POLE,downstream_gene_variant,,ENST00000541627,;POLE,downstream_gene_variant,,ENST00000534922,;POLE,downstream_gene_variant,,ENST00000544692,;POLE,downstream_gene_variant,,ENST00000537064,;POLE,downstream_gene_variant,,ENST00000543516,;	846	47	39	SUCCESS
PDZRN4	29951	.	GRCh37	12	41949558	41949558	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	66	0	ENST00000402685.2:c.1361T>A	p.Leu454Ter	p.L454*	ENST00000402685	NM_001164595.1	454	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS53777.1	1361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTTGCAAG	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,PROSITE_profiles:PS50106	.	.	ENSP00000384197	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,stop_gained,p.Leu194Ter,ENST00000298919,;PDZRN4,stop_gained,p.Leu196Ter,ENST00000539469,;PDZRN4,stop_gained,p.Leu454Ter,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	1369	66	65	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42858275	42858275	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	84	0	ENST00000345127.3:c.1561C>G	p.Leu521Val	p.L521V	ENST00000345127	NM_153026.2	521	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS8742.1	1561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGGAAT	NONE	.	.	hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14	.	.	ENSP00000401060	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0.05)	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,missense_variant,p.Leu521Val,ENST00000345127,;PRICKLE1,missense_variant,p.Leu521Val,ENST00000455697,;PRICKLE1,missense_variant,p.Leu521Val,ENST00000445766,;PRICKLE1,missense_variant,p.Leu521Val,ENST00000552240,;PRICKLE1,missense_variant,p.Leu521Val,ENST00000548696,;PRICKLE1,downstream_gene_variant,,ENST00000552108,;PPHLN1,downstream_gene_variant,,ENST00000317560,;RP11-328C8.4,intron_variant,,ENST00000547824,;	1847	84	102	SUCCESS
C12orf68	0	.	GRCh37	12	48578199	48578199	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	18	0	ENST00000316554.3:c.294C>A	p.Arg98=	p.R98=	ENST00000316554	NM_001013635.3	98	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS31785.1	294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCCAGGG	NONE	.	.	hmmpanther:PTHR31554:SF2,hmmpanther:PTHR31554	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,synonymous_variant,p.%3D,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	834	18	23	SUCCESS
C12orf68	0	.	GRCh37	12	48578200	48578200	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	18	0	ENST00000316554.3:c.295C>A	p.Gln99Lys	p.Q99K	ENST00000316554	NM_001013635.3	99	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31785.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCAGGGC	NONE	.	.	hmmpanther:PTHR31554:SF2,hmmpanther:PTHR31554	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	COSM431174	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.954)	.	deleterious_low_confidence(0)	1	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,missense_variant,p.Gln99Lys,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	835	18	23	SUCCESS
CAND1	55832	.	GRCh37	12	67699851	67699851	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	63	0	ENST00000545606.1:c.2403A>C	p.Lys801Asn	p.K801N	ENST00000545606	NM_018448.3	801	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS8977.1	2403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAATGTGT	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious(0.01)	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,missense_variant,p.Lys801Asn,ENST00000545606,;CAND1,missense_variant,p.Lys341Asn,ENST00000544619,;CAND1,intron_variant,,ENST00000540319,;	2840	63	76	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72017346	72017346	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs770112749	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	58	0	ENST00000378743.3:c.4538T>G	p.Val1513Gly	p.V1513G	ENST00000378743	NM_144982.4	1513	gTa/gGa	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS41813.1	4538	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGCTACTATT	NONE	.	.	hmmpanther:PTHR21563,Superfamily_domains:SSF48452	.	.	ENSP00000368017	.	24/35	.	.	.	.	.	.	.	.	rs770112749	24/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.551)	.	deleterious(0)	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	SNV	ZFC3H1,missense_variant,p.Val1513Gly,ENST00000378743,;ZFC3H1,missense_variant,p.Val1513Gly,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546771,;	4897	58	89	SUCCESS
ZDHHC20	253832	.	GRCh37	13	21974596	21974597	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	379	162	314	0	ENST00000400590.3:c.509dup	p.Phe171LeufsTer30	p.F171Lfs*30	ENST00000400590		170	ttc/ttTc	0	.	.	.	.	.	A	F/FX	protein_coding	YES	CCDS45017.1	509-510	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGAAGAATTT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50216,hmmpanther:PTHR22883:SF14,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000371905	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000382466	Transcript	.	.	ENSG00000180776	20749	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZDH20_HUMAN	ZDHHC20	HGNC	I6L9D4_HUMAN	.	UPI00003B90E3	insertion	ZDHHC20,frameshift_variant,p.Phe171LeufsTer30,ENST00000400590,;ZDHHC20,frameshift_variant,p.Phe171LeufsTer30,ENST00000415724,;ZDHHC20,frameshift_variant,p.Phe108LeufsTer30,ENST00000542645,;ZDHHC20,frameshift_variant,p.Phe171LeufsTer30,ENST00000382466,;ZDHHC20,frameshift_variant,p.Phe171LeufsTer30,ENST00000320220,;ZDHHC20,downstream_gene_variant,,ENST00000422251,;ZDHHC20,non_coding_transcript_exon_variant,,ENST00000494731,;	622-623	314	541	SUCCESS
ATP8A2	51761	.	GRCh37	13	26273415	26273415	+	synonymous_variant	Silent	SNP	G	G	T	rs757284272	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	64	0	ENST00000381655.2:c.2316G>T	p.Ala772=	p.A772=	ENST00000381655	NM_016529.4	772	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS41873.1	2316	MUTECT|MUSE	.	TACGCGCTCTC	BUFFER|p.E776K|c.2326G>A|3	byFrequency	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710	.	.	ENSP00000371070	.	25/37	.	.	.	.	.	.	.	.	rs757284272,COSM3968584	25/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,synonymous_variant,p.%3D,ENST00000255283,;ATP8A2,synonymous_variant,p.%3D,ENST00000381655,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,synonymous_variant,p.%3D,ENST00000281620,;	2458	64	46	SUCCESS
FAM124A	220108	.	GRCh37	13	51854702	51854702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	48	0	ENST00000322475.8:c.951C>A	p.Ser317Arg	p.S317R	ENST00000322475	NM_001242312.1	317	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS9427.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCAGCCA	NONE	.	.	hmmpanther:PTHR14715:SF4,hmmpanther:PTHR14715	.	.	ENSP00000280057	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000280057	Transcript	.	.	ENSG00000150510	26413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.19)	.	F124A_HUMAN	FAM124A	HGNC	.	.	UPI0000140E33	SNV	FAM124A,missense_variant,p.Ser353Arg,ENST00000280057,;FAM124A,missense_variant,p.Ser317Arg,ENST00000322475,;	1190	48	43	SUCCESS
TEP1	7011	.	GRCh37	14	20876328	20876328	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	70	163	0	ENST00000262715.5:c.271A>C	p.Met91Leu	p.M91L	ENST00000262715	NM_007110.4	91	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS9548.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATGGTCT	NONE	.	.	Pfam_domain:PF05386,PROSITE_profiles:PS51226	.	.	ENSP00000262715	.	2/55	.	.	.	.	.	.	.	.	.	2/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.76)	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Met91Leu,ENST00000556549,;TEP1,missense_variant,p.Met91Leu,ENST00000556935,;TEP1,missense_variant,p.Met91Leu,ENST00000262715,;TEP1,missense_variant,p.Met91Leu,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	312	163	171	SUCCESS
JKAMP	51528	.	GRCh37	14	59951497	59951497	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	22	0	ENST00000261247.9:c.4+186G>A		p.*2*	ENST00000261247	NM_001098625.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45116.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACGGGCTAC	NONE	.	.	.	.	.	ENSP00000261247	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261247	Transcript	.	.	ENSG00000050130	20184	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JKAMP_HUMAN	JKAMP	HGNC	G3V372_HUMAN	.	UPI00000377AB	SNV	JKAMP,5_prime_UTR_variant,,ENST00000554271,;JKAMP,intron_variant,,ENST00000556985,;JKAMP,intron_variant,,ENST00000425728,;JKAMP,intron_variant,,ENST00000261247,;JKAMP,intron_variant,,ENST00000554795,;L3HYPDH,upstream_gene_variant,,ENST00000487285,;L3HYPDH,upstream_gene_variant,,ENST00000247194,;JKAMP,upstream_gene_variant,,ENST00000356057,;L3HYPDH,upstream_gene_variant,,ENST00000481608,;RP11-701B16.2,intron_variant,,ENST00000554253,;JKAMP,intron_variant,,ENST00000554754,;JKAMP,intron_variant,,ENST00000557560,;JKAMP,intron_variant,,ENST00000553156,;JKAMP,intron_variant,,ENST00000553941,;JKAMP,intron_variant,,ENST00000555491,;JKAMP,upstream_gene_variant,,ENST00000602482,;L3HYPDH,upstream_gene_variant,,ENST00000527981,;JKAMP,upstream_gene_variant,,ENST00000554721,;	.	22	21	SUCCESS
YLPM1	56252	.	GRCh37	14	75230510	75230510	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	36	0	ENST00000325680.7:c.318G>T	p.Pro106=	p.P106=	ENST00000325680	NM_019589.2	106	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45135.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGATGCC	NONE	.	.	hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413,Low_complexity_(Seg):seg	.	.	ENSP00000324463	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000325680	Transcript	.	.	ENSG00000119596	17798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YLPM1_HUMAN	YLPM1	HGNC	B4DMQ9_HUMAN	.	UPI00006C1433	SNV	YLPM1,synonymous_variant,p.%3D,ENST00000325680,;YLPM1,synonymous_variant,p.%3D,ENST00000238571,;YLPM1,synonymous_variant,p.%3D,ENST00000552421,;	442	36	41	SUCCESS
NEK9	91754	.	GRCh37	14	75590868	75590868	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1305927894	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	121	0	ENST00000238616.5:c.278G>A	p.Arg93His	p.R93H	ENST00000238616	NM_033116.4	93	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9839.1	278	RADIA|MUTECT|MUSE|VARSCANS	.	CACGACGTTCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000238616	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	SNV	NEK9,missense_variant,p.Arg93His,ENST00000238616,;NEK9,5_prime_UTR_variant,,ENST00000553823,;NEK9,5_prime_UTR_variant,,ENST00000557673,;RP11-950C14.7,upstream_gene_variant,,ENST00000556236,;NEK9,5_prime_UTR_variant,,ENST00000553945,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,intron_variant,,ENST00000554258,;NEK9,upstream_gene_variant,,ENST00000555961,;	437	121	121	SUCCESS
FLRT2	23768	.	GRCh37	14	86089139	86089139	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	53	161	0	ENST00000330753.4:c.1281C>A	p.Leu427=	p.L427=	ENST00000330753	NM_013231.4	427	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9877.1	1281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCTCTAT	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23,PROSITE_profiles:PS50853	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	COSM3420067	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,synonymous_variant,p.%3D,ENST00000330753,;FLRT2,synonymous_variant,p.%3D,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2048	161	130	SUCCESS
FMN1	342184	.	GRCh37	15	33359765	33359765	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	40	104	0	ENST00000559047.1:c.2044-2490T>C		p.*682*	ENST00000559047	NM_001277313.1	107		0	.	.	.	.	.	G	S	protein_coding	YES	CCDS45209.1	321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGACTTCC	NONE	.	.	hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8	.	.	ENSP00000333950	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,synonymous_variant,p.%3D,ENST00000334528,;FMN1,synonymous_variant,p.%3D,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	321	104	156	SUCCESS
FMN1	342184	.	GRCh37	15	33359984	33359984	+	intron_variant	Intron	SNP	A	A	T	rs184741064	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	73	0	ENST00000559047.1:c.2044-2709T>A		p.*682*	ENST00000559047	NM_001277313.1	34		0	.	G:0.0008	.	G:0	.	T	S	protein_coding	YES	CCDS45209.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATAGAGAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8	G:0	.	ENSP00000333950	G:0	1/17	.	.	.	.	.	.	.	.	rs184741064	1/17	PASS	ENST00000334528	Transcript	.	G:0.0002	ENSG00000248905	3768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,synonymous_variant,p.%3D,ENST00000334528,;FMN1,synonymous_variant,p.%3D,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	102	73	120	SUCCESS
PHGR1	644844	.	GRCh37	15	40648358	40648358	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs1264440278	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	46	0	ENST00000448599.2:c.109del	p.His37ThrfsTer71	p.H37Tfs*71	ENST00000448599	NM_001145643.1	35	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS45225.1	103	VARSCANI*|PINDEL	.	GGGCCACCCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000410024	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000448599	Transcript	.	.	ENSG00000233041	37226	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHGR1_HUMAN	PHGR1	HGNC	.	.	UPI00015D3965	deletion	PHGR1,frameshift_variant,p.His37ThrfsTer71,ENST00000448599,;DISP2,upstream_gene_variant,,ENST00000267889,;PHGR1,downstream_gene_variant,,ENST00000560745,;	159	46	75	SUCCESS
CGNL1	84952	.	GRCh37	15	57731023	57731023	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	54	176	0	ENST00000281282.5:c.826C>T	p.Leu276Phe	p.L276F	ENST00000281282	NM_032866.4	276	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS10161.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCTTCCC	NONE	.	.	.	.	.	ENSP00000281282	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000281282	Transcript	1	.	ENSG00000128849	25931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CGNL1_HUMAN	CGNL1	HGNC	.	.	UPI000019B4EF	SNV	CGNL1,missense_variant,p.Leu276Phe,ENST00000281282,;CGNL1,downstream_gene_variant,,ENST00000559194,;	904	176	218	SUCCESS
POLR2M	81488	.	GRCh37	15	57998890	57998890	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	20	0	ENST00000299638.3:c.-151G>T		p.*51*	ENST00000299638	NM_015532.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32252.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCGATTCG	NONE	.	.	.	.	.	ENSP00000299638	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000299638	Transcript	.	.	ENSG00000255529	14862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRL1A_HUMAN	POLR2M	HGNC	E9PP13_HUMAN	.	UPI000000D78C	SNV	POLR2M,5_prime_UTR_variant,,ENST00000299638,;POLR2M,5_prime_UTR_variant,,ENST00000380563,;GCOM1,intron_variant,,ENST00000380568,;GCOM1,intron_variant,,ENST00000587652,;GCOM1,intron_variant,,ENST00000380569,;GCOM1,downstream_gene_variant,,ENST00000380561,;POLR2M,upstream_gene_variant,,ENST00000380557,;GCOM1,intron_variant,,ENST00000484300,;POLR2M,upstream_gene_variant,,ENST00000464308,;POLR2M,upstream_gene_variant,,ENST00000567643,;GCOM1,3_prime_UTR_variant,,ENST00000468886,;GCOM1,3_prime_UTR_variant,,ENST00000488175,;GCOM1,3_prime_UTR_variant,,ENST00000496101,;GCOM1,3_prime_UTR_variant,,ENST00000471563,;GCOM1,intron_variant,,ENST00000463717,;GCOM1,intron_variant,,ENST00000460962,;GCOM1,intron_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000477282,;GCOM1,intron_variant,,ENST00000482814,;POLR2M,upstream_gene_variant,,ENST00000494490,;POLR2M,upstream_gene_variant,,ENST00000482852,;POLR2M,upstream_gene_variant,,ENST00000464277,;	64	20	26	SUCCESS
LCTL	197021	.	GRCh37	15	66850163	66850163	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	9	107	0	ENST00000341509.5:c.819C>G	p.Pro273=	p.P273=	ENST00000341509	NM_207338.3	273	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS10220.1	819	MUTECT|MUSE	.	TCCTTGGGGTT	NONE	.	.	Superfamily_domains:SSF51445,Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353:SF24,hmmpanther:PTHR10353	.	.	ENSP00000343490	.	8/13	.	.	.	.	.	.	.	.	COSM964253	8/13	PASS	ENST00000341509	Transcript	.	.	ENSG00000188501	15583	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	LCTL_HUMAN	LCTL	HGNC	B3KQY0_HUMAN	.	UPI00002520EC	SNV	LCTL,synonymous_variant,p.%3D,ENST00000341509,;LCTL,synonymous_variant,p.%3D,ENST00000537670,;LCTL,3_prime_UTR_variant,,ENST00000565875,;	951	107	186	SUCCESS
SMAD3	4088	.	GRCh37	15	67358566	67358566	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs191612061	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	77	0	ENST00000327367.4:c.74G>T	p.Gly25Val	p.G25V	ENST00000327367	NM_005902.3	25	gGg/gTg	0	.	T:0	.	T:0.0014	.	T	G/V	protein_coding	YES	CCDS10222.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACGGGCAGG	NONE	by1000G	.	Superfamily_domains:0040928,Gene3D:1ozjA00,hmmpanther:PTHR13703:SF25,hmmpanther:PTHR13703,PROSITE_profiles:PS51075	T:0	.	ENSP00000332973	T:0	1/9	.	.	.	.	.	.	.	.	rs191612061	1/9	PASS	ENST00000327367	Transcript	1	T:0.0002	ENSG00000166949	6769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	T:0	deleterious(0.03)	.	SMAD3_HUMAN	SMAD3	HGNC	Q68DS8_HUMAN,H3BP09_HUMAN,H0YNV1_HUMAN,H0YMP2_HUMAN,H0YL71_HUMAN,H0YKE2_HUMAN	.	UPI0000023A91	SNV	SMAD3,missense_variant,p.Gly25Val,ENST00000327367,;SMAD3,intron_variant,,ENST00000559460,;	384	77	82	SUCCESS
ABCC11	85320	.	GRCh37	16	48234210	48234210	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs16945928	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	70	0	ENST00000356608.2:c.2059G>A	p.Val687Ile	p.V687I	ENST00000356608		687	Gtc/Atc	0	T:0.0207	T:0.0234	.	T:0.0043	.	T	V/I	protein_coding	YES	CCDS10732.1	2059	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGACCG	NONE	byFrequency|byCluster|byHapMap|by1000G	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF168,hmmpanther:PTHR24223,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	T:0.001	T:0.0002	ENSP00000378230	T:0	14/29	.	.	.	.	.	.	.	.	rs16945928	14/29	common_in_exac	ENST00000394747	Transcript	.	T:0.0070	ENSG00000121270	14639	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	T:0	tolerated(0.69)	.	ABCCB_HUMAN	ABCC11	HGNC	H3BRJ2_HUMAN	.	UPI0000052711	SNV	ABCC11,missense_variant,p.Val687Ile,ENST00000394747,;ABCC11,missense_variant,p.Val687Ile,ENST00000394748,;ABCC11,missense_variant,p.Val687Ile,ENST00000537808,;ABCC11,missense_variant,p.Val687Ile,ENST00000353782,;ABCC11,missense_variant,p.Val687Ile,ENST00000356608,;ABCC11,upstream_gene_variant,,ENST00000569172,;	2409	70	58	SUCCESS
SALL1	6299	.	GRCh37	16	51173435	51173435	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	64	0	ENST00000251020.4:c.2698A>G	p.Asn900Asp	p.N900D	ENST00000251020	NM_002968.2	900	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS10747.1	2698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATTGGTCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0.01)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Asn900Asp,ENST00000251020,;SALL1,missense_variant,p.Asn803Asp,ENST00000570206,;SALL1,missense_variant,p.Asn803Asp,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	2732	64	63	SUCCESS
MYH1	4619	.	GRCh37	17	10399270	10399270	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	62	0	ENST00000226207.5:c.5166C>G	p.Thr1722=	p.T1722=	ENST00000226207	NM_005963.3	1722	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS11155.1	5166	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCTGGGTGTG	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576	.	.	ENSP00000226207	.	35/40	.	.	.	.	.	.	.	.	.	35/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	5261	62	55	SUCCESS
MYH1	4619	.	GRCh37	17	10408340	10408340	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	78	0	ENST00000226207.5:c.2478G>A	p.Met826Ile	p.M826I	ENST00000226207	NM_005963.3	826	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS11155.1	2478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCATGAA	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Gene3D:1wdcA00,Superfamily_domains:SSF52540	.	.	ENSP00000226207	.	22/40	.	.	.	.	.	.	.	.	.	22/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.04)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Met826Ile,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2573	78	62	SUCCESS
SLFN13	146857	.	GRCh37	17	33769276	33769276	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs767814242	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	38	0	ENST00000285013.6:c.1228G>T	p.Glu410Ter	p.E410*	ENST00000285013	NM_144682.5	410	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS32620.1	1228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAG	NONE	byFrequency	.	hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155	.	.	ENSP00000285013	.	5/6	.	.	.	.	.	.	.	.	rs767814242	5/6	PASS	ENST00000285013	Transcript	.	.	ENSG00000154760	26481	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLN13_HUMAN	SLFN13	HGNC	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN	.	UPI000004E65A	SNV	SLFN13,stop_gained,p.Glu410Ter,ENST00000526861,;SLFN13,stop_gained,p.Glu410Ter,ENST00000285013,;SLFN13,stop_gained,p.Glu79Ter,ENST00000532210,;SLFN13,stop_gained,p.Glu92Ter,ENST00000360502,;SLFN13,stop_gained,p.Glu410Ter,ENST00000542635,;SLFN13,stop_gained,p.Glu92Ter,ENST00000534689,;SLFN13,stop_gained,p.Glu410Ter,ENST00000533791,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,non_coding_transcript_exon_variant,,ENST00000532774,;SLFN13,downstream_gene_variant,,ENST00000526483,;	1504	38	40	SUCCESS
PIGW	284098	.	GRCh37	17	34894023	34894034	+	inframe_deletion	In_Frame_Del	DEL	AAGTAAATGTAG	AAGTAAATGTAG	-	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	AAGTAAATGTAG	AAGTAAATGTAG	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	52	0	ENST00000592983.1:c.1076_1087del	p.Val359_Glu362del	p.V359_E362del	ENST00000592983		358	cAAGTAAATGTAGaa/caa	0	.	.	.	.	.	-	QVNVE/Q	protein_coding	YES	CCDS11313.1	1073-1084	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGTTCAAGTAAATGTAGAAGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR20661,Pfam_domain:PF06423,PIRSF_domain:PIRSF017321	.	.	ENSP00000468778	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000592983	Transcript	.	.	ENSG00000184886	23213	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIGW_HUMAN	PIGW	HGNC	C9JLC8_HUMAN	.	UPI00001984EA	deletion	PIGW,inframe_deletion,p.Val359_Glu362del,ENST00000328396,;PIGW,inframe_deletion,p.Val359_Glu362del,ENST00000592983,;MYO19,upstream_gene_variant,,ENST00000585818,;MYO19,upstream_gene_variant,,ENST00000544606,;MYO19,upstream_gene_variant,,ENST00000268852,;PIGW,downstream_gene_variant,,ENST00000429467,;MYO19,upstream_gene_variant,,ENST00000431794,;MYO19,upstream_gene_variant,,ENST00000586007,;MYO19,upstream_gene_variant,,ENST00000585719,;MYO19,upstream_gene_variant,,ENST00000589404,;MYO19,upstream_gene_variant,,ENST00000586886,;MYO19,intron_variant,,ENST00000586879,;MYO19,intron_variant,,ENST00000590081,;MYO19,upstream_gene_variant,,ENST00000592380,;MYO19,upstream_gene_variant,,ENST00000588664,;MYO19,upstream_gene_variant,,ENST00000591794,;MYO19,upstream_gene_variant,,ENST00000586908,;	1653-1664	52	49	SUCCESS
SOCS7	30837	.	GRCh37	17	36508355	36508355	+	synonymous_variant	Silent	SNP	C	C	T	rs918445588	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	27	0	ENST00000577233.1:c.228C>T	p.Val76=	p.V76=	ENST00000577233	NM_014598.2	76	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32637.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCGGTGG	NONE	.	.	hmmpanther:PTHR10385:SF30,hmmpanther:PTHR10385	.	.	ENSP00000464034	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000577233	Transcript	.	.	ENSG00000174111	29846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS7_HUMAN	SOCS7	HGNC	.	.	UPI00001AFDEB	SNV	SOCS7,synonymous_variant,p.%3D,ENST00000331159,;SOCS7,synonymous_variant,p.%3D,ENST00000577233,;SOCS7,upstream_gene_variant,,ENST00000580660,;SOCS7,upstream_gene_variant,,ENST00000584132,;	228	27	34	SUCCESS
USP6	9098	.	GRCh37	17	5072174	5072174	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	81	203	1	ENST00000250066.6:c.3341A>G	p.Asp1114Gly	p.D1114G	ENST00000250066	NM_004505.2	1114	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11069.2	3341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGACCCGG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Pfam_domain:PF00443	.	.	ENSP00000460380	.	35/38	.	.	.	.	.	.	.	.	.	35/38	PASS	ENST00000574788	Transcript	.	.	ENSG00000129204	12629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.1)	.	UBP6_HUMAN	USP6	HGNC	Q6U210_HUMAN	.	UPI000006226F	SNV	USP6,missense_variant,p.Asp1114Gly,ENST00000250066,;USP6,missense_variant,p.Asp1114Gly,ENST00000574788,;USP6,missense_variant,p.Asp797Gly,ENST00000304328,;USP6,3_prime_UTR_variant,,ENST00000332776,;USP6,3_prime_UTR_variant,,ENST00000572949,;USP6,3_prime_UTR_variant,,ENST00000575709,;	5571	204	175	SUCCESS
FHOD3	80206	.	GRCh37	18	34156492	34156492	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs147225084	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	76	0	ENST00000359247.4:c.590C>A	p.Thr197Asn	p.T197N	ENST00000359247	NM_001281739.1	197	aCt/aAt	0	T:0	.	.	.	.	A	T/N	protein_coding	YES	CCDS32816.1	590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACACTCTCA	NONE	byCluster	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,Superfamily_domains:SSF48371	.	T:0.0001	ENSP00000257209	.	6/25	.	.	.	.	.	.	.	.	rs147225084	6/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Thr197Asn,ENST00000445677,;FHOD3,missense_variant,p.Thr197Asn,ENST00000590592,;FHOD3,missense_variant,p.Thr197Asn,ENST00000257209,;FHOD3,missense_variant,p.Thr197Asn,ENST00000359247,;FHOD3,5_prime_UTR_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	712	76	77	SUCCESS
SLC14A2	8170	.	GRCh37	18	43223109	43223109	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755864706	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	68	1	ENST00000255226.6:c.1139C>T	p.Ala380Val	p.A380V	ENST00000255226	NM_007163.3	380	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11924.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCATACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2,Gene3D:1.10.3430.10,Pfam_domain:PF03253	.	.	ENSP00000255226	.	9/20	.	.	.	.	.	.	.	.	rs755864706	9/20	PASS	ENST00000255226	Transcript	.	.	ENSG00000132874	10919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious(0)	.	UT2_HUMAN	SLC14A2	HGNC	.	.	UPI000013CE99	SNV	SLC14A2,missense_variant,p.Ala380Val,ENST00000255226,;SLC14A2,missense_variant,p.Ala380Val,ENST00000586448,;RP11-116O18.1,upstream_gene_variant,,ENST00000590535,;SLC14A2,3_prime_UTR_variant,,ENST00000323329,;	1955	69	89	SUCCESS
TXNL1	9352	.	GRCh37	18	54285333	54285333	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	43	0	ENST00000217515.6:c.394A>G	p.Lys132Glu	p.K132E	ENST00000217515	NM_004786.2	132	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS11961.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTTGTTAA	NONE	.	.	PROSITE_profiles:PS51532,hmmpanther:PTHR10438,Gene3D:1wwyA00,Pfam_domain:PF06201,Superfamily_domains:SSF49785	.	.	ENSP00000217515	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000217515	Transcript	.	.	ENSG00000091164	12436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.654)	.	deleterious(0.03)	.	TXNL1_HUMAN	TXNL1	HGNC	K7EKG2_HUMAN,G3V1K0_HUMAN	.	UPI0000137838	SNV	TXNL1,missense_variant,p.Lys132Glu,ENST00000590954,;TXNL1,missense_variant,p.Lys9Glu,ENST00000540155,;TXNL1,missense_variant,p.Lys119Glu,ENST00000587613,;TXNL1,missense_variant,p.Lys128Glu,ENST00000586262,;TXNL1,missense_variant,p.Lys132Glu,ENST00000217515,;TXNL1,upstream_gene_variant,,ENST00000589931,;TXNL1,3_prime_UTR_variant,,ENST00000587807,;	599	43	48	SUCCESS
KLF2	10365	.	GRCh37	19	16435649	16435649	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	31	0	ENST00000248071.5:c.-86C>T		p.*29*	ENST00000248071	NM_016270.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12343.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGTCCCCGCCC	NONE	.	.	.	.	.	ENSP00000248071	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000248071	Transcript	.	.	ENSG00000127528	6347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLF2_HUMAN	KLF2	HGNC	Q8IUN4_HUMAN	.	UPI000012DED3	SNV	KLF2,5_prime_UTR_variant,,ENST00000248071,;KLF2,upstream_gene_variant,,ENST00000592003,;CTD-2562J15.6,upstream_gene_variant,,ENST00000588799,;	22	31	20	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768705	31768705	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767635305	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	60	0	ENST00000240587.4:c.1994G>A	p.Arg665His	p.R665H	ENST00000240587	NM_020856.2	665	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12421.2	1994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCGGAAG	NONE	byFrequency	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	rs767635305	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.09)	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,missense_variant,p.Arg665His,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2322	60	42	SUCCESS
PSG3	5671	.	GRCh37	19	43234066	43234066	+	synonymous_variant	Silent	SNP	G	G	T	rs761049655	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	26	0	ENST00000327495.5:c.852C>A	p.Pro284=	p.P284=	ENST00000327495	NM_021016.3	284	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12611.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGGGACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332215	.	4/7	.	.	.	.	.	.	.	.	rs761049655	4/7	PASS	ENST00000327495	Transcript	.	.	ENSG00000221826	9520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSG3_HUMAN	PSG3	HGNC	.	.	UPI0000073DC1	SNV	PSG3,synonymous_variant,p.%3D,ENST00000595140,;PSG3,synonymous_variant,p.%3D,ENST00000327495,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,downstream_gene_variant,,ENST00000597009,;	1037	26	18	SUCCESS
PRKD2	25865	.	GRCh37	19	47192900	47192900	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	44	115	0	ENST00000291281.4:c.1865A>T	p.Lys622Ile	p.K622I	ENST00000291281		622	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS12689.1	1865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTTCTCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000552,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22968,PROSITE_profiles:PS50011	.	.	ENSP00000393978	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,missense_variant,p.Lys622Ile,ENST00000595515,;PRKD2,missense_variant,p.Lys465Ile,ENST00000600194,;PRKD2,missense_variant,p.Lys465Ile,ENST00000601806,;PRKD2,missense_variant,p.Lys622Ile,ENST00000433867,;PRKD2,missense_variant,p.Lys622Ile,ENST00000291281,;RN7SL364P,upstream_gene_variant,,ENST00000473668,;PRKD2,upstream_gene_variant,,ENST00000593492,;PRKD2,missense_variant,p.Lys97Ile,ENST00000597390,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599464,;PRKD2,non_coding_transcript_exon_variant,,ENST00000602155,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;	2343	115	99	SUCCESS
ZNF331	55422	.	GRCh37	19	54080362	54080362	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	46	104	0	ENST00000253144.9:c.548G>T	p.Gly183Val	p.G183V	ENST00000253144	NM_018555.5	183	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33102.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGGGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000253144	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000253144	Transcript	.	.	ENSG00000130844	15489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ZN331_HUMAN	ZNF331	HGNC	Q8NBU2_HUMAN,Q71QC9_HUMAN,Q71QC6_HUMAN,Q71QC5_HUMAN,Q71QC3_HUMAN,Q6PK05_HUMAN,E7EWU7_HUMAN,E7EV14_HUMAN,E7ETJ5_HUMAN,E7ERM8_HUMAN,E7EPT0_HUMAN,E7EPG5_HUMAN,E7ENR0_HUMAN,D6RH27_HUMAN	.	UPI0000039DC3	SNV	ZNF331,missense_variant,p.Gly183Val,ENST00000512387,;ZNF331,missense_variant,p.Gly183Val,ENST00000511593,;ZNF331,missense_variant,p.Gly183Val,ENST00000411977,;ZNF331,missense_variant,p.Gly183Val,ENST00000449416,;ZNF331,missense_variant,p.Gly183Val,ENST00000513999,;ZNF331,missense_variant,p.Gly183Val,ENST00000511154,;ZNF331,missense_variant,p.Gly183Val,ENST00000253144,;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000514374,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000511567,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000504493,;	1881	104	91	SUCCESS
ZNF543	125919	.	GRCh37	19	57839129	57839129	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	41	216	0	ENST00000321545.4:c.299A>G	p.Glu100Gly	p.E100G	ENST00000321545	NM_213598.3	100	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33130.1	299	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGAGGAAG	NONE	.	.	hmmpanther:PTHR24384:SF99,hmmpanther:PTHR24384	.	.	ENSP00000322545	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000321545	Transcript	.	.	ENSG00000178229	25281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.039)	.	deleterious(0.01)	.	ZN543_HUMAN	ZNF543	HGNC	.	.	UPI00001D8197	SNV	ZNF543,missense_variant,p.Glu100Gly,ENST00000321545,;	644	217	197	SUCCESS
ZSCAN1	284312	.	GRCh37	19	58549467	58549467	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	19	16	0	ENST00000282326.1:c.263G>A	p.Gly88Asp	p.G88D	ENST00000282326	NM_182572.3	88	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS12969.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGCGCGC	BUFFER|p.A89T|c.265G>A|3	.	.	PROSITE_profiles:PS50804,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	.	.	ENSP00000282326	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000282326	Transcript	.	.	ENSG00000152467	23712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.512)	.	tolerated(0.05)	.	ZSCA1_HUMAN	ZSCAN1	HGNC	.	.	UPI000013DCD2	SNV	ZSCAN1,missense_variant,p.Gly88Asp,ENST00000282326,;ZSCAN1,missense_variant,p.Gly88Asp,ENST00000601162,;ZSCAN1,missense_variant,p.Gly88Asp,ENST00000391700,;	510	16	34	SUCCESS
COL11A1	1301	.	GRCh37	1	103548452	103548452	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	44	0	ENST00000370096.3:c.183C>G	p.Cys61Trp	p.C61W	ENST00000370096	NM_001854.3	61	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS778.1	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTGCAAAA	NONE	.	.	SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000359114	.	2/67	.	.	.	.	.	.	.	.	COSM526918,COSM526919	2/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	.	1,1	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Cys61Trp,ENST00000512756,;COL11A1,missense_variant,p.Cys61Trp,ENST00000353414,;COL11A1,missense_variant,p.Cys61Trp,ENST00000427239,;COL11A1,missense_variant,p.Cys61Trp,ENST00000370096,;COL11A1,missense_variant,p.Cys61Trp,ENST00000358392,;COL11A1,upstream_gene_variant,,ENST00000447608,;	496	44	58	SUCCESS
PHGDH	26227	.	GRCh37	1	120284487	120284487	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764196357	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	46	0	ENST00000369409.4:c.1176C>A	p.Asn392Lys	p.N392K	ENST00000369409	NM_006623.3	392	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS904.1	1176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAACGCTAA	NONE	byFrequency	.	TIGRFAM_domain:TIGR01327,Gene3D:3.30.1330.90,Superfamily_domains:SSF143548	.	.	ENSP00000358417	.	10/12	.	.	.	.	.	.	.	.	rs764196357	10/12	PASS	ENST00000369409	Transcript	.	.	ENSG00000092621	8923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	SERA_HUMAN	PHGDH	HGNC	Q9UMY3_HUMAN,Q9UMY2_HUMAN,Q96RV8_HUMAN,Q96RV7_HUMAN,Q96RV6_HUMAN,Q96RV5_HUMAN,Q8N5M8_HUMAN	.	UPI000013586A	SNV	PHGDH,missense_variant,p.Asn358Lys,ENST00000369407,;PHGDH,missense_variant,p.Asn392Lys,ENST00000369409,;PHGDH,non_coding_transcript_exon_variant,,ENST00000482968,;	1312	46	40	SUCCESS
PDZK1	5174	.	GRCh37	1	145748546	145748546	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs782040972	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	245	264	0	ENST00000344770.2:c.419A>G	p.Lys140Arg	p.K140R	ENST00000344770	NM_002614.4	140	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS924.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGAAGGAAG	NONE	byFrequency	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF6,Gene3D:2.30.42.10,Pfam_domain:PF00595,Superfamily_domains:SSF50156	.	.	ENSP00000342143	.	3/9	.	.	.	.	.	.	.	.	rs782040972	3/9	PASS	ENST00000344770	Transcript	.	.	ENSG00000174827	8821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NHRF3_HUMAN	PDZK1	HGNC	.	.	UPI000006D202	SNV	PDZK1,missense_variant,p.Lys140Arg,ENST00000417171,;PDZK1,missense_variant,p.Lys140Arg,ENST00000344770,;PDZK1,missense_variant,p.Lys140Arg,ENST00000451928,;PDZK1,missense_variant,p.Lys140Arg,ENST00000443667,;	492	264	424	SUCCESS
HIST2H2BE	0	.	GRCh37	1	149858163	149858163	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	56	114	0	ENST00000369155.2:c.28G>T	p.Ala10Ser	p.A10S	ENST00000369155	NM_003528.2	10	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS936.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	.	.	ENSP00000358151	.	1/1	.	.	.	.	.	.	.	.	COSM357926	1/1	PASS	ENST00000369155	Transcript	.	.	ENSG00000184678	4760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	1	H2B2E_HUMAN	HIST2H2BE	HGNC	.	.	UPI0000000C6F	SNV	HIST2H2BE,missense_variant,p.Ala10Ser,ENST00000369155,;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,;HIST2H2AC,upstream_gene_variant,,ENST00000331380,;	70	114	178	SUCCESS
FLG	2312	.	GRCh37	1	152282595	152282595	+	synonymous_variant	Silent	SNP	G	G	T	rs368218057	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	35	125	0	ENST00000368799.1:c.4767C>A	p.Arg1589=	p.R1589=	ENST00000368799	NM_002016.1	1589	cgC/cgA	0	T:0	.	.	.	.	T	R	protein_coding	YES	CCDS30860.1	4767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGCGCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	.	T:0.0001	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs368218057	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	4803	125	130	SUCCESS
LAMC1	3915	.	GRCh37	1	183111767	183111767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	35	68	0	ENST00000258341.4:c.4672G>A	p.Val1558Met	p.V1558M	ENST00000258341	NM_002293.3	1558	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS1351.1	4672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGTGTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574	.	.	ENSP00000258341	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	tolerated(0.06)	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,missense_variant,p.Val1558Met,ENST00000258341,;RP11-181K3.4,upstream_gene_variant,,ENST00000457852,;LAMC1,downstream_gene_variant,,ENST00000495918,;	4929	68	112	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186839647	186839647	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	54	0	ENST00000367466.3:c.114G>A	p.Met38Ile	p.M38I	ENST00000367466	NM_024420.2	38	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1372.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATGCGTAA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000356436	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.15)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Met38Ile,ENST00000442353,;PLA2G4A,missense_variant,p.Met38Ile,ENST00000367466,;PLA2G4A,splice_region_variant,,ENST00000466600,;	266	54	108	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186839648	186839648	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs758024598	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	53	0	ENST00000367466.3:c.115C>A	p.Leu39Ile	p.L39I	ENST00000367466	NM_024420.2	39	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS1372.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCGTAAG	NONE	byFrequency	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000356436	.	3/18	.	.	.	.	.	.	.	.	rs758024598	3/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.07)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Leu39Ile,ENST00000442353,;PLA2G4A,missense_variant,p.Leu39Ile,ENST00000367466,;PLA2G4A,splice_region_variant,,ENST00000466600,;	267	53	107	SUCCESS
BRINP3	339479	.	GRCh37	1	190067609	190067609	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	66	0	ENST00000367462.3:c.1840C>A	p.Leu614Met	p.L614M	ENST00000367462	NM_199051.1	614	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS1373.1	1840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGAGTTA	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	COSM3705347	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.123)	.	deleterious(0.01)	1	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Leu512Met,ENST00000534846,;BRINP3,missense_variant,p.Leu614Met,ENST00000367462,;	2072	66	71	SUCCESS
NUAK2	81788	.	GRCh37	1	205273292	205273292	+	synonymous_variant	Silent	SNP	C	C	T	rs149020592	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	87	0	ENST00000367157.3:c.1173G>A	p.Thr391=	p.T391=	ENST00000367157	NM_030952.1	391	acG/acA	0	T:0	T:0	.	T:0.0014	.	T	T	protein_coding	YES	CCDS1453.1	1173	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGTGTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24343:SF133,hmmpanther:PTHR24343	T:0	T:0.0001	ENSP00000356125	T:0.001	7/7	.	.	.	.	.	.	.	.	rs149020592	7/7	PASS	ENST00000367157	Transcript	.	T:0.0004	ENSG00000163545	29558	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	NUAK2_HUMAN	NUAK2	HGNC	Q68E04_HUMAN,B4E0Y5_HUMAN	.	UPI0000037D77	SNV	NUAK2,synonymous_variant,p.%3D,ENST00000367157,;	1300	87	103	SUCCESS
SERTAD4-AS1	574036	.	GRCh37	1	210404870	210404870	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	10	0	ENST00000437764.1:n.657C>A		p.*219*	ENST00000437764				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1494.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGAAATT	NONE	.	1274	.	.	.	ENSP00000355979	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,upstream_gene_variant,,ENST00000367012,;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000480052,;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000475406,;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000437764,;	.	10	22	SUCCESS
TTC13	79573	.	GRCh37	1	231096999	231096999	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	24	63	0	ENST00000366661.4:c.322T>G	p.Ser108Ala	p.S108A	ENST00000366661	NM_024525.4	108	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS1588.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGATGATC	NONE	.	.	hmmpanther:PTHR23083:SF363,hmmpanther:PTHR23083	.	.	ENSP00000355621	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(1)	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	SNV	TTC13,missense_variant,p.Ser108Ala,ENST00000366661,;TTC13,missense_variant,p.Ser108Ala,ENST00000366662,;TTC13,missense_variant,p.Ser97Ala,ENST00000522821,;TTC13,missense_variant,p.Ser108Ala,ENST00000414259,;TTC13,intron_variant,,ENST00000522399,;TTC13,missense_variant,p.Ser108Ala,ENST00000481976,;TTC13,missense_variant,p.Ser108Ala,ENST00000466507,;	330	63	98	SUCCESS
OR2W5	0	.	GRCh37	1	247655247	247655247	+	non_coding_transcript_exon_variant	RNA	DEL	T	T	-	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	281	90	173	0	ENST00000530852.2:n.879del		p.*293*	ENST00000530852				0	.	.	.	.	.	-	.	transcribed_unprocessed_pseudogene	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAAGTTCCTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530852	Transcript	.	.	ENSG00000203664	15424	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	OR2W5	HGNC	.	.	.	deletion	OR2W5,non_coding_transcript_exon_variant,,ENST00000522351,;OR2W5,non_coding_transcript_exon_variant,,ENST00000530852,;OR2W5,non_coding_transcript_exon_variant,,ENST00000366492,;	878	173	371	SUCCESS
OR6F1	343169	.	GRCh37	1	247875237	247875237	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	66	0	ENST00000302084.2:c.821T>C	p.Val274Ala	p.V274A	ENST00000302084	NM_001005286.1	274	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31095.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGACAGCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF24,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	.	.	ENSP00000305640	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302084	Transcript	.	.	ENSG00000169214	15027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.626)	.	deleterious(0.04)	.	OR6F1_HUMAN	OR6F1	HGNC	.	.	UPI0000041CD7	SNV	OR6F1,missense_variant,p.Val274Ala,ENST00000302084,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000419891,;RP11-634B7.4,intron_variant,,ENST00000449298,;	869	66	84	SUCCESS
LCK	3932	.	GRCh37	1	32740006	32740006	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	40	74	0	ENST00000336890.5:c.76C>G	p.Pro26Ala	p.P26A	ENST00000336890	NM_005356.3	26	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS359.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATCCCATA	NONE	.	.	hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418	.	.	ENSP00000337825	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000336890	Transcript	.	.	ENSG00000182866	6524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.04)	.	LCK_HUMAN	LCK	HGNC	F8W6B9_HUMAN,B3KUV3_HUMAN	.	UPI0000151F17	SNV	LCK,missense_variant,p.Pro26Ala,ENST00000373562,;LCK,missense_variant,p.Pro26Ala,ENST00000495610,;LCK,missense_variant,p.Pro70Ala,ENST00000373557,;LCK,missense_variant,p.Pro70Ala,ENST00000477031,;LCK,missense_variant,p.Pro26Ala,ENST00000333070,;LCK,missense_variant,p.Pro26Ala,ENST00000336890,;LCK,missense_variant,p.Pro26Ala,ENST00000461712,;LCK,missense_variant,p.Pro26Ala,ENST00000373564,;LCK,missense_variant,p.Pro26Ala,ENST00000482949,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000476457,;LCK,non_coding_transcript_exon_variant,,ENST00000355928,;LCK,upstream_gene_variant,,ENST00000469956,;	214	74	86	SUCCESS
LRRC7	57554	.	GRCh37	1	70339222	70339222	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	80	0	ENST00000035383.5:c.533+35256T>C		p.*178*	ENST00000035383	NM_020794.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS645.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTGGAGG	NONE	.	.	.	.	.	ENSP00000035383	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODIFIER	5/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,3_prime_UTR_variant,,ENST00000370958,;LRRC7,intron_variant,,ENST00000415775,;LRRC7,intron_variant,,ENST00000035383,;LRRC7,intron_variant,,ENST00000310961,;	.	80	79	SUCCESS
GTF2B	2959	.	GRCh37	1	89325566	89325566	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	48	0	ENST00000370500.5:c.534A>G		p.X178_splice	ENST00000370500	NM_001514.5	178	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS715.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTTTAAA	NONE	.	.	hmmpanther:PTHR11618,Gene3D:1.10.472.10,Pfam_domain:PF00382,SMART_domains:SM00385,Superfamily_domains:SSF47954,Prints_domain:PR00685	.	.	ENSP00000359531	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000370500	Transcript	.	.	ENSG00000137947	4648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF2B_HUMAN	GTF2B	HGNC	.	.	UPI0000136C21	SNV	GTF2B,synonymous_variant,p.%3D,ENST00000418217,;GTF2B,synonymous_variant,p.%3D,ENST00000370500,;GTF2B,synonymous_variant,p.%3D,ENST00000448623,;GTF2B,splice_region_variant,,ENST00000494819,;GTF2B,downstream_gene_variant,,ENST00000471296,;GTF2B,downstream_gene_variant,,ENST00000471471,;GTF2B,downstream_gene_variant,,ENST00000486078,;	653	48	66	SUCCESS
SIRPB1	10326	.	GRCh37	20	1551500	1551500	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	63	0	ENST00000381605.4:c.1035C>G	p.Ala345=	p.A345=	ENST00000381605	NM_006065.3	345	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13019.1	1035	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGGCATA	NONE	.	.	SMART_domains:SM00409,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	.	.	ENSP00000371018	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000381605	Transcript	.	.	ENSG00000101307	15928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIRB1_HUMAN	SIRPB1	HGNC	.	.	UPI000036700F	SNV	SIRPB1,synonymous_variant,p.%3D,ENST00000381605,;SIRPB1,synonymous_variant,p.%3D,ENST00000565076,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,intron_variant,,ENST00000567028,;SIRPB1,intron_variant,,ENST00000262929,;SIRPB1,intron_variant,,ENST00000563840,;SIRPB1,intron_variant,,ENST00000381603,;SIRPB1,intron_variant,,ENST00000569629,;	1100	63	102	SUCCESS
SNX5	27131	.	GRCh37	20	17949107	17949107	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs1339542674	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	26	0	ENST00000377759.4:c.-39C>G		p.*13*	ENST00000377759	NM_014426.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13130.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCGAGGAA	NONE	.	.	.	.	.	ENSP00000366998	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377768	Transcript	.	.	ENSG00000089006	14969	.	.	LOW	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX5_HUMAN	SNX5	HGNC	.	.	UPI0000135B43	SNV	SNX5,splice_region_variant,,ENST00000377768,;SNX5,5_prime_UTR_variant,,ENST00000377759,;SNX5,5_prime_UTR_variant,,ENST00000419004,;SNX5,5_prime_UTR_variant,,ENST00000606557,;SNX5,5_prime_UTR_variant,,ENST00000606602,;SNX5,5_prime_UTR_variant,,ENST00000486039,;SNX5,intron_variant,,ENST00000481323,;MGME1,upstream_gene_variant,,ENST00000377710,;MGME1,upstream_gene_variant,,ENST00000377709,;SNX5,upstream_gene_variant,,ENST00000431277,;MGME1,upstream_gene_variant,,ENST00000377704,;SNX5,non_coding_transcript_exon_variant,,ENST00000469704,;SNX5,intron_variant,,ENST00000490175,;OVOL2,intron_variant,,ENST00000486776,;SNX5,intron_variant,,ENST00000474883,;MGME1,upstream_gene_variant,,ENST00000463219,;MGME1,upstream_gene_variant,,ENST00000467391,;	.	26	30	SUCCESS
CEP250	11190	.	GRCh37	20	34057783	34057783	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	62	0	ENST00000397527.1:c.920A>G	p.Lys307Arg	p.K307R	ENST00000397527	NM_007186.3	307	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS13255.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAAAGGCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	.	ENSP00000380661	.	10/35	.	.	.	.	.	.	.	.	.	10/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.462)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Lys307Arg,ENST00000425934,;CEP250,missense_variant,p.Lys307Arg,ENST00000397524,;CEP250,missense_variant,p.Lys307Arg,ENST00000342580,;CEP250,missense_variant,p.Lys307Arg,ENST00000397527,;CEP250,downstream_gene_variant,,ENST00000446710,;CEP250,upstream_gene_variant,,ENST00000425096,;CEP250,downstream_gene_variant,,ENST00000420564,;CEP250,downstream_gene_variant,,ENST00000465987,;CEP250,missense_variant,p.Lys307Arg,ENST00000461386,;CEP250,non_coding_transcript_exon_variant,,ENST00000474829,;	1640	62	79	SUCCESS
FAM83D	81610	.	GRCh37	20	37580989	37580998	+	frameshift_variant	Frame_Shift_Del	DEL	CAAAGAGCGG	CAAAGAGCGG	-	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	CAAAGAGCGG	CAAAGAGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	116	0	ENST00000217429.4:c.1677_1686del	p.Lys559AsnfsTer47	p.K559Nfs*47	ENST00000217429	NM_030919.2	558	aaCAAAGAGCGG/aa	0	.	.	.	.	.	-	NKER/X	protein_coding	YES	CCDS42872.1	1674-1683	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGAACAAAGAGCGGCAATT	NONE	.	.	hmmpanther:PTHR16181:SF7,hmmpanther:PTHR16181	.	.	ENSP00000217429	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000217429	Transcript	.	.	ENSG00000101447	16122	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA83D_HUMAN	FAM83D	HGNC	.	.	UPI00004708E6	deletion	FAM83D,frameshift_variant,p.Lys559AsnfsTer47,ENST00000217429,;	1715-1724	116	87	SUCCESS
PANK2	80025	.	GRCh37	20	3893207	3893207	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	34	71	0	ENST00000316562.4:c.1338G>A	p.Val446=	p.V446=	ENST00000316562	NM_153638.2	446	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13071.2	1338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGGATAA	NONE	.	.	hmmpanther:PTHR12280:SF25,hmmpanther:PTHR12280,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067	.	.	ENSP00000313377	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000316562	Transcript	1	.	ENSG00000125779	15894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PANK2_HUMAN	PANK2	HGNC	Q52M85_HUMAN,D3DVZ1_HUMAN,A4FU43_HUMAN	.	UPI000036701A	SNV	PANK2,synonymous_variant,p.%3D,ENST00000497424,;PANK2,synonymous_variant,p.%3D,ENST00000610179,;PANK2,synonymous_variant,p.%3D,ENST00000495692,;PANK2,synonymous_variant,p.%3D,ENST00000316562,;MIR103A2,upstream_gene_variant,,ENST00000362154,;PANK2,non_coding_transcript_exon_variant,,ENST00000464452,;PANK2,downstream_gene_variant,,ENST00000471830,;PANK2,3_prime_UTR_variant,,ENST00000336066,;	1344	71	115	SUCCESS
PLCG1	5335	.	GRCh37	20	39792440	39792440	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	71	0	ENST00000373271.1:c.977T>C	p.Leu326Pro	p.L326P	ENST00000373271	NM_182811.1	326	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS13313.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTTTCCC	BUFFER|p.P325S|c.973C>T|3	.	.	PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,Gene3D:3.20.20.190,Pfam_domain:PF00388,PIRSF_domain:PIRSF000952,SMART_domains:SM00148,Superfamily_domains:SSF51695,Prints_domain:PR00390	.	.	ENSP00000362369	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000373272	Transcript	.	.	ENSG00000124181	9065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PLCG1_HUMAN	PLCG1	HGNC	.	.	UPI00001B94DD	SNV	PLCG1,missense_variant,p.Leu326Pro,ENST00000373272,;PLCG1,missense_variant,p.Leu326Pro,ENST00000244007,;PLCG1,missense_variant,p.Leu326Pro,ENST00000373271,;PLCG1,upstream_gene_variant,,ENST00000473632,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,non_coding_transcript_exon_variant,,ENST00000470528,;PLCG1,non_coding_transcript_exon_variant,,ENST00000492148,;PLCG1,downstream_gene_variant,,ENST00000490253,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,upstream_gene_variant,,ENST00000477870,;	1382	71	77	SUCCESS
MYBL2	4605	.	GRCh37	20	42338684	42338684	+	synonymous_variant	Silent	SNP	C	C	T	rs768925904	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	95	0	ENST00000217026.4:c.1587C>T	p.Tyr529=	p.Y529=	ENST00000217026	NM_002466.3	529	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS13322.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACGGACC	NONE	.	.	hmmpanther:PTHR10641:SF37,hmmpanther:PTHR10641,Pfam_domain:PF09316	.	.	ENSP00000217026	.	10/14	.	.	.	.	.	.	.	.	rs768925904	10/14	PASS	ENST00000217026	Transcript	.	.	ENSG00000101057	7548	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYBB_HUMAN	MYBL2	HGNC	.	.	UPI000012FAE1	SNV	MYBL2,synonymous_variant,p.%3D,ENST00000217026,;MYBL2,synonymous_variant,p.%3D,ENST00000396863,;	1714	95	67	SUCCESS
LAMA5	3911	.	GRCh37	20	60892042	60892042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	22	0	ENST00000252999.3:c.7549A>G	p.Arg2517Gly	p.R2517G	ENST00000252999	NM_005560.4	2517	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS33502.1	7549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTCTGGG	NONE	.	.	hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574	.	.	ENSP00000252999	.	56/80	.	.	.	.	.	.	.	.	.	56/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Arg2517Gly,ENST00000252999,;LAMA5,upstream_gene_variant,,ENST00000468786,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000471042,;LAMA5,upstream_gene_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000370691,;	7616	22	28	SUCCESS
DIDO1	11083	.	GRCh37	20	61525548	61525548	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	35	0	ENST00000266070.4:c.2573-2A>T		p.X858_splice	ENST00000266070	NM_033081.2	858		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33506.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTGAAGA	NONE	.	.	.	.	.	ENSP00000266070	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	HIGH	11/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,splice_acceptor_variant,,ENST00000266070,;DIDO1,splice_acceptor_variant,,ENST00000395335,;DIDO1,splice_acceptor_variant,,ENST00000395340,;DIDO1,splice_acceptor_variant,,ENST00000395343,;	.	36	34	SUCCESS
ZGPAT	84619	.	GRCh37	20	62340049	62340049	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	41	0	ENST00000328969.5:c.117G>A	p.Leu39=	p.L39=	ENST00000328969	NM_032527.4	39	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13534.1	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGCAGGG	NONE	.	.	hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF8	.	.	ENSP00000332013	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000328969	Transcript	.	.	ENSG00000197114	15948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZGPAT_HUMAN	ZGPAT	HGNC	.	.	UPI000013EEDB	SNV	ZGPAT,synonymous_variant,p.%3D,ENST00000448100,;ZGPAT,synonymous_variant,p.%3D,ENST00000328969,;ZGPAT,synonymous_variant,p.%3D,ENST00000357119,;ZGPAT,synonymous_variant,p.%3D,ENST00000355969,;ZGPAT,synonymous_variant,p.%3D,ENST00000431125,;ZGPAT,synonymous_variant,p.%3D,ENST00000369967,;ARFRP1,upstream_gene_variant,,ENST00000609142,;ARFRP1,upstream_gene_variant,,ENST00000324228,;ARFRP1,upstream_gene_variant,,ENST00000440854,;ARFRP1,upstream_gene_variant,,ENST00000359715,;ARFRP1,upstream_gene_variant,,ENST00000607873,;ARFRP1,upstream_gene_variant,,ENST00000424545,;ZGPAT,upstream_gene_variant,,ENST00000478385,;ZGPAT,upstream_gene_variant,,ENST00000472711,;ZGPAT,upstream_gene_variant,,ENST00000468235,;ZGPAT,non_coding_transcript_exon_variant,,ENST00000477340,;ARFRP1,upstream_gene_variant,,ENST00000609243,;RP4-583P15.15,upstream_gene_variant,,ENST00000490623,;ARFRP1,upstream_gene_variant,,ENST00000610136,;ARFRP1,upstream_gene_variant,,ENST00000609537,;	244	41	38	SUCCESS
DGCR14	0	.	GRCh37	22	19124884	19124884	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	135	0	ENST00000252137.6:c.987A>G	p.Glu329=	p.E329=	ENST00000252137	NM_022719.2	329	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS13756.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCTTCAAC	NONE	.	.	hmmpanther:PTHR12940,Pfam_domain:PF09751	.	.	ENSP00000252137	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000252137	Transcript	.	.	ENSG00000100056	16817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGC14_HUMAN	DGCR14	HGNC	.	.	UPI0000129227	SNV	DGCR14,synonymous_variant,p.%3D,ENST00000252137,;TSSK2,downstream_gene_variant,,ENST00000399635,;DGCR14,3_prime_UTR_variant,,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;	1031	135	116	SUCCESS
MORC2	22880	.	GRCh37	22	31328358	31328358	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	66	0	ENST00000397641.3:c.2829A>G	p.Ile943Met	p.I943M	ENST00000397641		943	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS33636.1	2643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATATTAG	NONE	.	.	hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337	.	.	ENSP00000215862	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000215862	Transcript	.	.	ENSG00000133422	23573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.33)	.	MORC2_HUMAN	MORC2	HGNC	.	.	UPI000012DB74	SNV	MORC2,missense_variant,p.Ile105Met,ENST00000445980,;MORC2,missense_variant,p.Ile881Met,ENST00000215862,;MORC2,missense_variant,p.Ile943Met,ENST00000397641,;MORC2,upstream_gene_variant,,ENST00000429468,;MORC2-AS1,non_coding_transcript_exon_variant,,ENST00000441558,;MORC2,downstream_gene_variant,,ENST00000469915,;	4007	66	50	SUCCESS
HDAC10	83933	.	GRCh37	22	50688856	50688856	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	rs763302996	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	34	65	0	ENST00000216271.5:c.291G>T		p.X97_splice	ENST00000216271	NM_032019.5	97	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14088.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACCGGGTG	NONE	byFrequency	.	hmmpanther:PTHR10625:SF25,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,Superfamily_domains:SSF52768	.	.	ENSP00000216271	.	3/20	.	.	.	.	.	.	.	.	rs763302996	3/20	PASS	ENST00000216271	Transcript	.	.	ENSG00000100429	18128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDA10_HUMAN	HDAC10	HGNC	.	.	UPI000012C3A6	SNV	HDAC10,synonymous_variant,p.%3D,ENST00000349505,;HDAC10,synonymous_variant,p.%3D,ENST00000216271,;HDAC10,synonymous_variant,p.%3D,ENST00000448072,;MAPK12,downstream_gene_variant,,ENST00000215659,;MAPK12,downstream_gene_variant,,ENST00000395780,;HDAC10,splice_region_variant,,ENST00000497483,;HDAC10,splice_region_variant,,ENST00000489424,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,intron_variant,,ENST00000470965,;HDAC10,intron_variant,,ENST00000498366,;HDAC10,intron_variant,,ENST00000483222,;HDAC10,intron_variant,,ENST00000496909,;HDAC10,synonymous_variant,p.%3D,ENST00000454936,;HDAC10,non_coding_transcript_exon_variant,,ENST00000482213,;HDAC10,intron_variant,,ENST00000429374,;HDAC10,intron_variant,,ENST00000415993,;HDAC10,upstream_gene_variant,,ENST00000475965,;HDAC10,upstream_gene_variant,,ENST00000471375,;HDAC10,upstream_gene_variant,,ENST00000496235,;HDAC10,upstream_gene_variant,,ENST00000488270,;HDAC10,upstream_gene_variant,,ENST00000477814,;MAPK12,downstream_gene_variant,,ENST00000488504,;MAPK12,downstream_gene_variant,,ENST00000482969,;MAPK12,downstream_gene_variant,,ENST00000497738,;MAPK12,downstream_gene_variant,,ENST00000467891,;MAPK12,downstream_gene_variant,,ENST00000496942,;HDAC10,upstream_gene_variant,,ENST00000470378,;HDAC10,upstream_gene_variant,,ENST00000476310,;HDAC10,upstream_gene_variant,,ENST00000497952,;	644	65	53	SUCCESS
ROCK2	9475	.	GRCh37	2	11348447	11348447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	38	0	ENST00000315872.6:c.2330A>T	p.Glu777Val	p.E777V	ENST00000315872	NM_004850.3	777	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS42654.1	2330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCTCATTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988:SF24,hmmpanther:PTHR22988,PIRSF_domain:PIRSF037568	.	.	ENSP00000317985	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000315872	Transcript	.	.	ENSG00000134318	10252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.05)	.	ROCK2_HUMAN	ROCK2	HGNC	Q14DU5_HUMAN,E9PF63_HUMAN	.	UPI000034ECB0	SNV	ROCK2,missense_variant,p.Glu777Val,ENST00000315872,;ROCK2,missense_variant,p.Glu534Val,ENST00000401753,;	2779	38	45	SUCCESS
CCDC74B	91409	.	GRCh37	2	130897613	130897613	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	60	1	ENST00000310463.6:c.933G>A	p.Glu311=	p.E311=	ENST00000310463	NM_207310.2	311	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS2155.1	933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTCCGG	BUFFER|p.V411A|c.1232T>C|4,BUFFER|p.V309A|c.926T>C|4	.	.	Pfam_domain:PF14917	.	.	ENSP00000308873	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000310463	Transcript	.	.	ENSG00000152076	25267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,synonymous_variant,p.%3D,ENST00000409943,;CCDC74B,synonymous_variant,p.%3D,ENST00000392984,;CCDC74B,synonymous_variant,p.%3D,ENST00000310463,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000498526,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,downstream_gene_variant,,ENST00000434929,;CCDC74B,downstream_gene_variant,,ENST00000423263,;MED15P9,downstream_gene_variant,,ENST00000424716,;	1071	61	60	SUCCESS
CCDC74A	90557	.	GRCh37	2	132290493	132290493	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	32	233	0	ENST00000295171.6:c.933G>A	p.Glu311=	p.E311=	ENST00000295171	NM_138770.2	311	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2167.1	933	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGAGGAAGC	NONE	.	.	Pfam_domain:PF14917	.	.	ENSP00000295171	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000295171	Transcript	.	.	ENSG00000163040	25197	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC74A_HUMAN	CCDC74A	HGNC	.	.	UPI000006E43A	SNV	CCDC74A,missense_variant,p.Arg200Lys,ENST00000434330,;CCDC74A,synonymous_variant,p.%3D,ENST00000295171,;CCDC74A,synonymous_variant,p.%3D,ENST00000409856,;CCDC74A,3_prime_UTR_variant,,ENST00000467992,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000468650,;CCDC74A,downstream_gene_variant,,ENST00000454549,;MED15P4,downstream_gene_variant,,ENST00000417579,;	1071	233	190	SUCCESS
MGAT5	4249	.	GRCh37	2	135095832	135095832	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs138350444	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	97	212	0	ENST00000281923.2:c.648G>A		p.X216_splice	ENST00000281923	NM_002410.4	216	gcG/gcA	0	.	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS2171.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGGAAAT	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF15024,hmmpanther:PTHR15075:SF3,hmmpanther:PTHR15075	A:0.003	.	ENSP00000386377	A:0	7/17	.	.	.	.	.	.	.	.	rs138350444	7/17	PASS	ENST00000409645	Transcript	.	A:0.0008	ENSG00000152127	7049	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MGT5A_HUMAN	MGAT5	HGNC	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN	.	UPI0000049D8F	SNV	MGAT5,synonymous_variant,p.%3D,ENST00000281923,;MGAT5,synonymous_variant,p.%3D,ENST00000409645,;	900	212	214	SUCCESS
PKP4	8502	.	GRCh37	2	159526271	159526271	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	74	206	0	ENST00000389759.3:c.2768G>A	p.Gly923Asp	p.G923D	ENST00000389759	NM_003628.3	923	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS33305.1	2768	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGCGGCA	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000374409	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000389759	Transcript	.	.	ENSG00000144283	9026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0.02)	.	PKP4_HUMAN	PKP4	HGNC	Q53TM5_HUMAN	.	UPI000044D379	SNV	PKP4,missense_variant,p.Gly923Asp,ENST00000389759,;PKP4,missense_variant,p.Gly923Asp,ENST00000389757,;AC005042.4,intron_variant,,ENST00000342892,;PKP4,downstream_gene_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,non_coding_transcript_exon_variant,,ENST00000486254,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,downstream_gene_variant,,ENST00000483881,;	2880	206	167	SUCCESS
SP3	6670	.	GRCh37	2	174820558	174820558	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	68	0	ENST00000310015.6:c.682del	p.Ile228TyrfsTer25	p.I228Yfs*25	ENST00000310015	NM_001172712.1	228	Ata/ta	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS2254.1	682	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGTATGAGAT	NONE	.	.	hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3	.	.	ENSP00000310301	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000310015	Transcript	.	.	ENSG00000172845	11208	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SP3_HUMAN	SP3	HGNC	Q68DP2_HUMAN,H0Y6K5_HUMAN	.	UPI000019B3E0	deletion	SP3,frameshift_variant,p.Ile185TyrfsTer25,ENST00000416195,;SP3,frameshift_variant,p.Ile160TyrfsTer25,ENST00000418194,;SP3,frameshift_variant,p.Ile175TyrfsTer25,ENST00000455789,;SP3,frameshift_variant,p.Ile228TyrfsTer25,ENST00000310015,;SP3,non_coding_transcript_exon_variant,,ENST00000462904,;SP3,downstream_gene_variant,,ENST00000483084,;SP3,downstream_gene_variant,,ENST00000490182,;	1213	68	87	SUCCESS
TTN	7273	.	GRCh37	2	179484523	179484523	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781291079	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	59	0	ENST00000591111.1:c.41598G>T	p.Lys13866Asn	p.K13866N	ENST00000591111		13866	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS59435.1	46521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCTTATC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	250/363	.	.	.	.	.	.	.	.	rs781291079	250/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys6567Asn,ENST00000359218,;TTN,missense_variant,p.Lys13866Asn,ENST00000591111,;TTN,missense_variant,p.Lys15507Asn,ENST00000589042,;TTN,missense_variant,p.Lys12939Asn,ENST00000342992,;TTN,missense_variant,p.Lys6634Asn,ENST00000342175,;TTN,missense_variant,p.Lys6442Asn,ENST00000460472,;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000604956,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592750,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589907,;	46746	59	73	SUCCESS
AOX1	316	.	GRCh37	2	201531449	201531449	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1219886702	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	67	0	ENST00000374700.2:c.3583A>G	p.Ile1195Val	p.I1195V	ENST00000374700	NM_001159.3	1195	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33360.1	3583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTATAAAT	NONE	.	.	hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	.	.	ENSP00000363832	.	32/35	.	.	.	.	.	.	.	.	.	32/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	deleterious(0.03)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.Ile35Val,ENST00000439380,;AOX1,missense_variant,p.Ile81Val,ENST00000260930,;AOX1,missense_variant,p.Ile1195Val,ENST00000374700,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	3824	67	75	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209189632	209189632	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	84	0	ENST00000264380.4:c.2332-3T>C		p.X778_splice	ENST00000264380	NM_015040.3	778		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2382.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTAGCAA	NONE	.	.	.	.	.	ENSP00000264380	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	LOW	18/41	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,splice_region_variant,,ENST00000452564,;PIKFYVE,splice_region_variant,,ENST00000264380,;PIKFYVE,splice_region_variant,,ENST00000443896,;	.	84	83	SUCCESS
ABCA12	26154	.	GRCh37	2	215813394	215813394	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373723120	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	55	131	0	ENST00000272895.7:c.7030G>A	p.Asp2344Asn	p.D2344N	ENST00000272895	NM_173076.2	2344	Gac/Aac	0	T:0	.	.	.	.	T	D/N	protein_coding	YES	CCDS33372.1	7030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCATCTA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	T:0.0001	ENSP00000272895	.	47/53	.	.	.	.	.	.	.	.	rs373723120	47/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	tolerated(0.14)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Asp2026Asn,ENST00000389661,;ABCA12,missense_variant,p.Asp2344Asn,ENST00000272895,;AC072062.1,intron_variant,,ENST00000607412,;	7250	131	147	SUCCESS
SP140	11262	.	GRCh37	2	231090583	231090583	+	synonymous_variant	Silent	SNP	G	G	A	rs752828812	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	66	1	ENST00000392045.3:c.24G>A	p.Gly8=	p.G8=	ENST00000392045	NM_007237.4	8	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42831.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCAGAT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000375899	.	1/27	.	.	.	.	.	.	.	.	COSM573911,COSM573910	1/27	PASS	ENST00000392045	Transcript	.	.	ENSG00000079263	17133	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	SNV	SP140,synonymous_variant,p.%3D,ENST00000417495,;SP140,synonymous_variant,p.%3D,ENST00000392045,;SP140,synonymous_variant,p.%3D,ENST00000343805,;SP140,synonymous_variant,p.%3D,ENST00000373645,;SP140,synonymous_variant,p.%3D,ENST00000486687,;SP140,synonymous_variant,p.%3D,ENST00000420434,;SP140,synonymous_variant,p.%3D,ENST00000456542,;SP140,5_prime_UTR_variant,,ENST00000350136,;SP110,upstream_gene_variant,,ENST00000416610,;SP110,upstream_gene_variant,,ENST00000540870,;SP140,upstream_gene_variant,,ENST00000544128,;SP140,upstream_gene_variant,,ENST00000538494,;SP140,non_coding_transcript_exon_variant,,ENST00000543928,;SP140,non_coding_transcript_exon_variant,,ENST00000473711,;	138	67	90	SUCCESS
ADCY3	109	.	GRCh37	2	25141567	25141567	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758762604	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	138	0	ENST00000260600.5:c.290C>A	p.Ala97Asp	p.A97D	ENST00000260600	NM_004036.3	97	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS1715.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGCACAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	.	.	ENSP00000260600	.	1/21	.	.	.	.	.	.	.	.	rs758762604	1/21	PASS	ENST00000260600	Transcript	.	.	ENSG00000138031	234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	deleterious(0.03)	.	ADCY3_HUMAN	ADCY3	HGNC	Q8NBM1_HUMAN,C9J969_HUMAN	.	UPI000013D0ED	SNV	ADCY3,missense_variant,p.Ala97Asp,ENST00000438445,;ADCY3,missense_variant,p.Ala97Asp,ENST00000260600,;ADCY3,missense_variant,p.Ala97Asp,ENST00000435135,;	1142	138	131	SUCCESS
PEX13	5194	.	GRCh37	2	61258660	61258660	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs752073595	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	73	0	ENST00000295030.5:c.199A>G	p.Ser67Gly	p.S67G	ENST00000295030	NM_002618.3	67	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS1866.1	199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCAGTGTG	NONE	byFrequency	.	hmmpanther:PTHR19332	.	.	ENSP00000295030	.	2/4	.	.	.	.	.	.	.	.	rs752073595	2/4	PASS	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.42)	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,missense_variant,p.Ser67Gly,ENST00000295030,;PEX13,non_coding_transcript_exon_variant,,ENST00000472678,;	237	73	85	SUCCESS
ANKRD36BP2	645784	.	GRCh37	2	89104276	89104276	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	11	0	ENST00000393525.3:n.4750A>G		p.*1584*	ENST00000393525				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTAATTAT	NONE	.	.	.	.	.	.	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000393525	Transcript	.	.	ENSG00000230006	33607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKRD36BP2	HGNC	.	.	.	SNV	ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393525,;ANKRD36BP2,intron_variant,,ENST00000393515,;ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000454490,;ANKRD36BP2,intron_variant,,ENST00000575193,;	4750	11	16	SUCCESS
CNGA3	1261	.	GRCh37	2	98996755	98996755	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	104	0	ENST00000272602.2:c.333C>A	p.Ser111=	p.S111=	ENST00000272602		111	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2034.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCCAGCCA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,synonymous_variant,p.%3D,ENST00000409937,;CNGA3,synonymous_variant,p.%3D,ENST00000436404,;CNGA3,synonymous_variant,p.%3D,ENST00000393504,;CNGA3,synonymous_variant,p.%3D,ENST00000272602,;CNGA3,non_coding_transcript_exon_variant,,ENST00000393503,;	750	104	79	SUCCESS
SENP7	57337	.	GRCh37	3	101058948	101058948	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	111	245	0	ENST00000394095.2:c.2348T>A	p.Phe783Tyr	p.F783Y	ENST00000394095	NM_020654.3	783	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS2941.2	2348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAAAAATCA	NONE	.	.	PROSITE_profiles:PS50600,hmmpanther:PTHR12438,hmmpanther:PTHR12438:SF3,Pfam_domain:PF02902,Superfamily_domains:SSF54001	.	.	ENSP00000377655	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000394095	Transcript	.	.	ENSG00000138468	30402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SENP7_HUMAN	SENP7	HGNC	.	.	UPI0000E56ED1	SNV	SENP7,missense_variant,p.Phe619Tyr,ENST00000394091,;SENP7,missense_variant,p.Phe717Tyr,ENST00000314261,;SENP7,missense_variant,p.Phe783Tyr,ENST00000394095,;SENP7,missense_variant,p.Phe750Tyr,ENST00000348610,;SENP7,missense_variant,p.Phe619Tyr,ENST00000358203,;SENP7,missense_variant,p.Phe718Tyr,ENST00000394094,;SENP7,non_coding_transcript_exon_variant,,ENST00000460107,;	2402	245	280	SUCCESS
FANCD2	2177	.	GRCh37	3	10136948	10136948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	53	103	0	ENST00000383807.1:c.4028G>A	p.Gly1343Glu	p.G1343E	ENST00000383807	NM_001018115.1	1343	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2595.1	4028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGGGCATT	NONE	.	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	.	.	ENSP00000287647	.	41/43	.	.	.	.	.	.	.	.	.	41/43	PASS	ENST00000287647	Transcript	.	.	ENSG00000144554	3585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,missense_variant,p.Gly1343Glu,ENST00000383807,;FANCD2,missense_variant,p.Gly1343Glu,ENST00000287647,;FANCD2,missense_variant,p.Gly1343Glu,ENST00000419585,;FANCD2,3_prime_UTR_variant,,ENST00000383806,;FANCD2OS,intron_variant,,ENST00000524279,;FANCD2OS,non_coding_transcript_exon_variant,,ENST00000436517,;FANCD2,non_coding_transcript_exon_variant,,ENST00000470028,;FANCD2OS,intron_variant,,ENST00000431315,;FANCD2,3_prime_UTR_variant,,ENST00000421731,;	4121	103	104	SUCCESS
ZDHHC23	254887	.	GRCh37	3	113667674	113667674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	46	0	ENST00000330212.3:c.25C>T	p.Pro9Ser	p.P9S	ENST00000330212	NM_173570.3	9	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS33827.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCCTGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF17	.	.	ENSP00000330485	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000330212	Transcript	.	.	ENSG00000184307	28654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	tolerated_low_confidence(0.13)	.	ZDH23_HUMAN	ZDHHC23	HGNC	C9JPJ8_HUMAN,B3KXV3_HUMAN	.	UPI0000209F9A	SNV	ZDHHC23,missense_variant,p.Pro9Ser,ENST00000491556,;ZDHHC23,missense_variant,p.Pro9Ser,ENST00000330212,;ZDHHC23,missense_variant,p.Pro3Ser,ENST00000498275,;GRAMD1C,downstream_gene_variant,,ENST00000440446,;GRAMD1C,downstream_gene_variant,,ENST00000358160,;GRAMD1C,downstream_gene_variant,,ENST00000472026,;GRAMD1C,downstream_gene_variant,,ENST00000452134,;RP11-255E6.6,upstream_gene_variant,,ENST00000609657,;GRAMD1C,downstream_gene_variant,,ENST00000479212,;ZDHHC23,missense_variant,p.Pro9Ser,ENST00000478793,;GRAMD1C,downstream_gene_variant,,ENST00000491038,;GRAMD1C,downstream_gene_variant,,ENST00000466898,;	324	46	59	SUCCESS
QTRTD1	0	.	GRCh37	3	113785076	113785076	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	48	0	ENST00000281273.4:c.202G>A	p.Ala68Thr	p.A68T	ENST00000281273	NM_024638.3	68	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS58844.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAGCAGAA	NONE	.	.	HAMAP:MF_03043,hmmpanther:PTHR11962,Gene3D:3.20.20.105,Superfamily_domains:SSF51713	.	.	ENSP00000420682	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000485050	Transcript	.	.	ENSG00000151576	25771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	deleterious(0.04)	.	QTRD1_HUMAN	QTRTD1	HGNC	.	.	UPI00005A727B	SNV	QTRTD1,missense_variant,p.Ala68Thr,ENST00000482307,;QTRTD1,missense_variant,p.Ala80Thr,ENST00000485050,;QTRTD1,missense_variant,p.Ala68Thr,ENST00000281273,;QTRTD1,missense_variant,p.Ala82Thr,ENST00000472599,;QTRTD1,splice_region_variant,,ENST00000479882,;QTRTD1,intron_variant,,ENST00000493014,;QTRTD1,splice_region_variant,,ENST00000466050,;QTRTD1,splice_region_variant,,ENST00000490183,;QTRTD1,splice_region_variant,,ENST00000460163,;QTRTD1,splice_region_variant,,ENST00000466870,;QTRTD1,upstream_gene_variant,,ENST00000467703,;	353	48	56	SUCCESS
CNTN6	27255	.	GRCh37	3	1189706	1189706	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs144055237	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	56	113	0	ENST00000350110.2:c.14G>A	p.Trp5Ter	p.W5*	ENST00000350110	NM_014461.2	5	tGg/tAg	0	C:0.0002	.	.	.	.	A	W/*	protein_coding	YES	CCDS2557.1	14	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATGGAAAC	NONE	byCluster	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489	.	C:0	ENSP00000407822	.	2/23	.	.	.	.	.	.	.	.	rs144055237	2/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,stop_gained,p.Trp5Ter,ENST00000446702,;CNTN6,stop_gained,p.Trp5Ter,ENST00000350110,;CNTN6,intron_variant,,ENST00000539053,;CNTN6,start_lost,p.Met1?,ENST00000394261,;CNTN6,intron_variant,,ENST00000397479,;CNTN6,downstream_gene_variant,,ENST00000413210,;	641	113	156	SUCCESS
COL6A5	256076	.	GRCh37	3	130129336	130129336	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	rs371782483	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	89	0	ENST00000312481.7:c.4630G>T	p.Val1544Leu	p.V1544L	ENST00000312481		1544	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	.	4630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGTGCAA	NONE	.	.	hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992,Pfam_domain:PF01391	.	.	ENSP00000265379	.	20/42	.	.	.	.	.	.	.	.	rs371782483	20/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.51)	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,missense_variant,p.Val1544Leu,ENST00000432398,;COL6A5,missense_variant,p.Val1544Leu,ENST00000265379,;COL6A5,missense_variant,p.Val1544Leu,ENST00000312481,;	5124	89	121	SUCCESS
CLSTN2	64084	.	GRCh37	3	140281700	140281700	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	110	0	ENST00000458420.3:c.2260T>G	p.Tyr754Asp	p.Y754D	ENST00000458420	NM_022131.2	754	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS3112.1	2260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCTACCGC	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3	.	.	ENSP00000402460	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000458420	Transcript	.	.	ENSG00000158258	17448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CSTN2_HUMAN	CLSTN2	HGNC	B3KUA5_HUMAN,B3KU27_HUMAN	.	UPI00001B0051	SNV	CLSTN2,missense_variant,p.Tyr754Asp,ENST00000458420,;	2450	110	111	SUCCESS
MECOM	2122	.	GRCh37	3	168810848	168810848	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	43	0	ENST00000468789.1:c.2498G>C	p.Gly833Ala	p.G833A	ENST00000468789	NM_001105078.3	833	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS54670.1	2693	RADIA|MUTECT|MUSE	.	TCGCACCTGTA	NONE	.	.	hmmpanther:PTHR24393	.	.	ENSP00000264674	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.511)	.	tolerated(0.33)	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,missense_variant,p.Gly834Ala,ENST00000472280,;MECOM,missense_variant,p.Gly824Ala,ENST00000460814,;MECOM,missense_variant,p.Gly824Ala,ENST00000464456,;MECOM,missense_variant,p.Gly1012Ala,ENST00000494292,;MECOM,missense_variant,p.Gly833Ala,ENST00000468789,;MECOM,missense_variant,p.Gly834Ala,ENST00000433243,;MECOM,missense_variant,p.Gly833Ala,ENST00000392736,;MECOM,missense_variant,p.Gly898Ala,ENST00000264674,;	2832	44	58	SUCCESS
CCDC39	339829	.	GRCh37	3	180359906	180359906	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	78	0	ENST00000442201.2:c.1749T>A	p.Leu583=	p.L583=	ENST00000442201	NM_181426.1	583	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46964.1	1749	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAAAGAAC	NONE	.	.	hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962	.	.	ENSP00000405708	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,synonymous_variant,p.%3D,ENST00000273654,;CCDC39,synonymous_variant,p.%3D,ENST00000442201,;CCDC39,synonymous_variant,p.%3D,ENST00000476379,;	1869	78	97	SUCCESS
MAP6D1	79929	.	GRCh37	3	183543020	183543020	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	29	0	ENST00000318631.3:c.316G>A	p.Ala106Thr	p.A106T	ENST00000318631	NM_024871.2	106	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3247.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGCGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14759,Pfam_domain:PF05217	.	.	ENSP00000314560	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000318631	Transcript	.	.	ENSG00000180834	25753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	tolerated(0.65)	.	MA6D1_HUMAN	MAP6D1	HGNC	.	.	UPI000007273D	SNV	MAP6D1,missense_variant,p.Ala106Thr,ENST00000431348,;MAP6D1,missense_variant,p.Ala106Thr,ENST00000318631,;PARL,downstream_gene_variant,,ENST00000435888,;PARL,downstream_gene_variant,,ENST00000311101,;PARL,downstream_gene_variant,,ENST00000418450,;PARL,downstream_gene_variant,,ENST00000417784,;PARL,downstream_gene_variant,,ENST00000450375,;PARL,downstream_gene_variant,,ENST00000317096,;MAP6D1,upstream_gene_variant,,ENST00000463801,;MAP6D1,missense_variant,p.Ala98Thr,ENST00000445426,;PARL,downstream_gene_variant,,ENST00000421484,;	347	29	22	SUCCESS
UBXN7	26043	.	GRCh37	3	196159225	196159226	+	inframe_insertion	In_Frame_Ins	INS	-	-	CCC	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	77	50	142	0	ENST00000296328.4:c.43_45dup	p.Gly15dup	p.G15dup	ENST00000296328	NM_015562.1	15	-/GGG	0	.	.	.	.	.	CCC	-/G	protein_coding	YES	CCDS43191.1	45-46	VARSCANI*|PINDEL	.	AATTAACCCCT	NONE	.	.	hmmpanther:PTHR23322:SF6,hmmpanther:PTHR23322,Gene3D:1.10.8.10,PIRSF_domain:PIRSF037991,Superfamily_domains:SSF46934	.	.	ENSP00000296328	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000296328	Transcript	.	.	ENSG00000163960	29119	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBXN7_HUMAN	UBXN7	HGNC	F5GYB1_HUMAN,C9JD50_HUMAN,C9JAT7_HUMAN	.	UPI00001C1DEF	insertion	UBXN7,inframe_insertion,p.Gly15dup,ENST00000381887,;UBXN7,inframe_insertion,p.Gly15dup,ENST00000296328,;UBXN7,5_prime_UTR_variant,,ENST00000535858,;UBXN7,5_prime_UTR_variant,,ENST00000428095,;UBXN7-AS1,non_coding_transcript_exon_variant,,ENST00000442941,;UBXN7-AS1,non_coding_transcript_exon_variant,,ENST00000598881,;UBXN7,inframe_insertion,p.Gly15dup,ENST00000429160,;UBXN7,non_coding_transcript_exon_variant,,ENST00000493566,;	120-121	142	127	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057519886	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	64	167	0	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTCTGGA	SITE|p.S33P|c.97T>C|61,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32V|c.95A>T|41,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.D32E|c.96C>A|3,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5682,COSM5683,COSM27311	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.423)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	377	167	145	SUCCESS
SETD2	29072	.	GRCh37	3	47164905	47164905	+	synonymous_variant	Silent	SNP	A	A	G	rs1304718519	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	49	100	1	ENST00000409792.3:c.1221T>C	p.Ser407=	p.S407=	ENST00000409792	NM_014159.6	407	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS2749.2	1221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTAGAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,synonymous_variant,p.%3D,ENST00000409792,;SETD2,synonymous_variant,p.%3D,ENST00000412450,;SETD2,synonymous_variant,p.%3D,ENST00000445387,;SETD2,synonymous_variant,p.%3D,ENST00000330022,;SETD2,synonymous_variant,p.%3D,ENST00000431180,;	1264	102	96	SUCCESS
DOCK3	1795	.	GRCh37	3	51412013	51412013	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372395657	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	66	143	1	ENST00000266037.9:c.5407G>A	p.Gly1803Arg	p.G1803R	ENST00000266037	NM_004947.4	1803	Gga/Aga	0	A:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS46835.1	5407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACGGACAG	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000266037	.	50/53	.	.	.	.	.	.	.	.	rs372395657	50/53	PASS	ENST00000266037	Transcript	.	.	ENSG00000088538	2989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	DOCK3_HUMAN	DOCK3	HGNC	.	.	UPI000007412C	SNV	DOCK3,missense_variant,p.Gly1803Arg,ENST00000266037,;	5430	144	153	SUCCESS
DNAH1	25981	.	GRCh37	3	52434364	52434364	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	79	0	ENST00000420323.2:c.12700T>A	p.Ser4234Thr	p.S4234T	ENST00000420323	NM_015512.4	4234	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS46842.1	12700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACTCTACC	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	78/78	.	.	.	.	.	.	.	.	.	78/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Ser4234Thr,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000469613,;BAP1,downstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000296288,;BAP1,downstream_gene_variant,,ENST00000460680,;DNAH1,3_prime_UTR_variant,,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000487254,;	12961	79	73	SUCCESS
PBRM1	55193	.	GRCh37	3	52598201	52598201	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	72	0	ENST00000394830.3:c.3665C>T	p.Thr1222Ile	p.T1222I	ENST00000394830	NM_018313.4	1222	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS43099.1	3665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGTTGGC	NONE	.	.	PROSITE_profiles:PS51038,hmmpanther:PTHR16062,Pfam_domain:PF01426,SMART_domains:SM00439	.	.	ENSP00000378307	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000394830	Transcript	.	.	ENSG00000163939	30064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.702)	.	deleterious(0)	.	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	SNV	PBRM1,missense_variant,p.Thr1222Ile,ENST00000394830,;PBRM1,missense_variant,p.Thr1247Ile,ENST00000409057,;PBRM1,missense_variant,p.Thr1246Ile,ENST00000423351,;PBRM1,missense_variant,p.Thr1222Ile,ENST00000410007,;PBRM1,missense_variant,p.Thr1215Ile,ENST00000356770,;PBRM1,missense_variant,p.Thr1247Ile,ENST00000296302,;PBRM1,missense_variant,p.Thr1262Ile,ENST00000409767,;PBRM1,missense_variant,p.Thr1247Ile,ENST00000337303,;PBRM1,missense_variant,p.Thr1262Ile,ENST00000409114,;SMIM4,intron_variant,,ENST00000476842,;RNU6ATAC16P,downstream_gene_variant,,ENST00000408591,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	3765	72	66	SUCCESS
FAM208A	0	.	GRCh37	3	56681127	56681127	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	63	121	0	ENST00000493960.2:c.1638C>A	p.Ser546Arg	p.S546R	ENST00000493960	NM_001112736.1	546	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS46853.1	1638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGCTTAT	NONE	.	.	hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	deleterious(0.05)	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Ser546Arg,ENST00000355628,;FAM208A,missense_variant,p.Ser546Arg,ENST00000493960,;FAM208A,missense_variant,p.Ser150Arg,ENST00000431842,;	1649	121	146	SUCCESS
NSUN3	63899	.	GRCh37	3	93802963	93802963	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	45	117	0	ENST00000314622.4:c.135A>G	p.Thr45=	p.T45=	ENST00000314622	NM_022072.3	45	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2927.1	135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAACATCTCC	NONE	.	.	hmmpanther:PTHR22808:SF8,hmmpanther:PTHR22808,PROSITE_profiles:PS51686	.	.	ENSP00000318986	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000314622	Transcript	.	.	ENSG00000178694	26208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSUN3_HUMAN	NSUN3	HGNC	.	.	UPI00000373B2	SNV	NSUN3,synonymous_variant,p.%3D,ENST00000314622,;NSUN3,non_coding_transcript_exon_variant,,ENST00000468555,;NSUN3,downstream_gene_variant,,ENST00000494128,;NSUN3,downstream_gene_variant,,ENST00000485793,;NSUN3,non_coding_transcript_exon_variant,,ENST00000476588,;NSUN3,intron_variant,,ENST00000483378,;	346	117	110	SUCCESS
PRMT10	0	.	GRCh37	4	148575293	148575293	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	66	140	1	ENST00000322396.6:c.1755A>T	p.Leu585Phe	p.L585F	ENST00000322396	NM_138364.2	585	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3771.1	1755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTAACAC	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48	.	.	ENSP00000314396	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000322396	Transcript	.	.	ENSG00000164169	25099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.04)	.	ANM10_HUMAN	PRMT10	HGNC	B3KU92_HUMAN	.	UPI000004971D	SNV	PRMT10,missense_variant,p.Leu585Phe,ENST00000322396,;PRMT10,missense_variant,p.Leu472Phe,ENST00000541232,;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,3_prime_UTR_variant,,ENST00000514886,;PRMT10,non_coding_transcript_exon_variant,,ENST00000510269,;	1998	141	139	SUCCESS
HTT	3064	.	GRCh37	4	3241784	3241784	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	39	82	0	ENST00000355072.5:c.9427T>A	p.Ter3143ArgextTer8	p.*3143Rext*8	ENST00000355072	NM_002111.6	3143	Tga/Aga	0	.	.	.	.	.	A	*/R	protein_coding	YES	CCDS43206.1	9427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGAGCG	NONE	.	.	.	.	.	ENSP00000347184	.	67/67	.	.	.	.	.	.	.	.	.	67/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,stop_lost,p.Ter3143ArgextTer8,ENST00000355072,;MSANTD1,upstream_gene_variant,,ENST00000507492,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;	9572	82	74	SUCCESS
KIAA1239	0	.	GRCh37	4	37432206	37432207	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	57	0	ENST00000309447.5:c.375dup	p.Tyr126IlefsTer11	p.Y126Ifs*11	ENST00000309447	NM_001144990.1	124	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS47040.1	370-371	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGGTGAAAAA	NONE	.	.	hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857	.	.	ENSP00000309501	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	insertion	KIAA1239,frameshift_variant,p.Tyr126IlefsTer11,ENST00000309447,;	1218-1219	57	94	SUCCESS
RASSF6	166824	.	GRCh37	4	74486007	74486007	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	12	0	ENST00000342081.3:c.62+149C>A		p.*21*	ENST00000342081	NM_201431.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGTTATT	NONE	.	.	.	.	.	ENSP00000340578	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342081	Transcript	.	.	ENSG00000169435	20796	.	.	MODIFIER	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF6_HUMAN	RASSF6	HGNC	.	.	UPI00001C0C6F	SNV	RASSF6,splice_region_variant,,ENST00000395777,;RASSF6,splice_region_variant,,ENST00000307439,;RASSF6,intron_variant,,ENST00000335049,;RASSF6,intron_variant,,ENST00000342081,;RASSF6,splice_region_variant,,ENST00000512591,;	.	12	18	SUCCESS
FRAS1	80144	.	GRCh37	4	79373018	79373018	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	54	0	ENST00000264895.6:c.6556G>C	p.Asp2186His	p.D2186H	ENST00000264895	NM_025074.6	2186	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS54771.1	6556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTGACAAG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	46/74	.	.	.	.	.	.	.	.	.	46/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Asp415His,ENST00000512123,;FRAS1,missense_variant,p.Asp2186His,ENST00000264895,;FRAS1,downstream_gene_variant,,ENST00000509802,;	6996	54	53	SUCCESS
PRDM8	56978	.	GRCh37	4	81123282	81123282	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	62	197	0	ENST00000339711.4:c.666C>A	p.Gly222=	p.G222=	ENST00000339711	NM_020226.3	222	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43243.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGGCCCGGG	NONE	.	.	hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF0	.	.	ENSP00000339764	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000339711	Transcript	1	.	ENSG00000152784	13993	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM8_HUMAN	PRDM8	HGNC	Q05CA1_HUMAN,E9PEH0_HUMAN	.	UPI0000422A1D	SNV	PRDM8,synonymous_variant,p.%3D,ENST00000504452,;PRDM8,synonymous_variant,p.%3D,ENST00000515013,;PRDM8,synonymous_variant,p.%3D,ENST00000339711,;PRDM8,synonymous_variant,p.%3D,ENST00000415738,;PRDM8,downstream_gene_variant,,ENST00000511825,;	1897	197	140	SUCCESS
MAPK10	5602	.	GRCh37	4	87024360	87024360	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138883015	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	37	0	ENST00000359221.3:c.404C>T	p.Thr135Met	p.T135M	ENST00000359221		135	aCg/aTg	0	A:0.0005	.	.	.	.	A	T/M	protein_coding	YES	CCDS34026.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGTTTTC	NONE	byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF162,hmmpanther:PTHR24055,PROSITE_patterns:PS01351,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	A:0	ENSP00000352157	.	6/14	.	.	.	.	.	.	.	.	rs138883015	6/14	PASS	ENST00000359221	Transcript	1	.	ENSG00000109339	6872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.01)	.	MK10_HUMAN	MAPK10	HGNC	D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN	.	UPI0000049042	SNV	MAPK10,missense_variant,p.Thr97Met,ENST00000395169,;MAPK10,missense_variant,p.Thr135Met,ENST00000512017,;MAPK10,missense_variant,p.Thr48Met,ENST00000515400,;MAPK10,missense_variant,p.Thr97Met,ENST00000395166,;MAPK10,missense_variant,p.Thr135Met,ENST00000395161,;MAPK10,missense_variant,p.Thr135Met,ENST00000361569,;MAPK10,missense_variant,p.Thr135Met,ENST00000359221,;MAPK10,intron_variant,,ENST00000395160,;MAPK10,intron_variant,,ENST00000449047,;MAPK10,intron_variant,,ENST00000395157,;MAPK10,downstream_gene_variant,,ENST00000512564,;MAPK10,downstream_gene_variant,,ENST00000511167,;MAPK10,downstream_gene_variant,,ENST00000512689,;MAPK10,downstream_gene_variant,,ENST00000506773,;MAPK10,downstream_gene_variant,,ENST00000509464,;MAPK10,downstream_gene_variant,,ENST00000511328,;MAPK10,non_coding_transcript_exon_variant,,ENST00000486985,;MAPK10,non_coding_transcript_exon_variant,,ENST00000479377,;MAPK10,intron_variant,,ENST00000513839,;MAPK10,upstream_gene_variant,,ENST00000468020,;MAPK10,upstream_gene_variant,,ENST00000472236,;MAPK10,non_coding_transcript_exon_variant,,ENST00000430389,;MAPK10,intron_variant,,ENST00000310816,;MAPK10,downstream_gene_variant,,ENST00000475679,;MAPK10,upstream_gene_variant,,ENST00000508262,;	931	37	46	SUCCESS
ALDH7A1	501	.	GRCh37	5	125896800	125896800	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	304	162	449	0	ENST00000409134.3:c.888A>G	p.Glu296=	p.E296=	ENST00000409134	NM_001201377.1	296	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS4137.2	888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGTTCCAA	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF144,PROSITE_patterns:PS00687,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720	.	.	ENSP00000387123	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000409134	Transcript	1	.	ENSG00000164904	877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL7A1_HUMAN	ALDH7A1	HGNC	.	.	UPI0000D4C5DE	SNV	ALDH7A1,synonymous_variant,p.%3D,ENST00000553117,;ALDH7A1,synonymous_variant,p.%3D,ENST00000409134,;ALDH7A1,synonymous_variant,p.%3D,ENST00000447989,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000503281,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000509459,;ALDH7A1,downstream_gene_variant,,ENST00000433026,;ALDH7A1,downstream_gene_variant,,ENST00000413020,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000497231,;	1108	449	466	SUCCESS
PPP2CA	5515	.	GRCh37	5	133561530	133561530	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	26	0	ENST00000481195.1:c.23A>T	p.Lys8Met	p.K8M	ENST00000481195	NM_002715.2	8	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS4173.1	23	RADIA|VARSCANS	.	GCTCCTTGGTG	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF216,Gene3D:3.60.21.10	.	.	ENSP00000418447	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000481195	Transcript	.	.	ENSG00000113575	9299	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.087)	.	deleterious_low_confidence(0.05)	.	PP2AA_HUMAN	PPP2CA	HGNC	E5RHP4_HUMAN,B3KUN1_HUMAN,B3KQ51_HUMAN	.	UPI0000000C15	SNV	PPP2CA,missense_variant,p.Lys8Met,ENST00000481195,;CTD-2410N18.5,missense_variant,p.Lys8Met,ENST00000519718,;CDKL3,intron_variant,,ENST00000609383,;CDKL3,intron_variant,,ENST00000609654,;PPP2CA,upstream_gene_variant,,ENST00000522385,;PPP2CA,upstream_gene_variant,,ENST00000523082,;MIR3661,non_coding_transcript_exon_variant,,ENST00000577394,;CTD-2410N18.3,upstream_gene_variant,,ENST00000602919,;PPP2CA,non_coding_transcript_exon_variant,,ENST00000231504,;CTD-2410N18.4,intron_variant,,ENST00000518409,;CTD-2410N18.4,intron_variant,,ENST00000520515,;	304	26	25	SUCCESS
PPAP2A	0	.	GRCh37	5	54763785	54763785	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	79	0	ENST00000307259.8:c.403G>A	p.Asp135Asn	p.D135N	ENST00000307259	NM_003711.3	135	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34160.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATCACAAA	NONE	.	.	hmmpanther:PTHR10165:SF26,hmmpanther:PTHR10165,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000264775	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000264775	Transcript	.	.	ENSG00000067113	9228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.49)	.	LPP1_HUMAN	PPAP2A	HGNC	.	.	UPI0000150635	SNV	PPAP2A,missense_variant,p.Asp136Asn,ENST00000264775,;PPAP2A,missense_variant,p.Asp135Asn,ENST00000307259,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000515132,;PPAP2A,3_prime_UTR_variant,,ENST00000509667,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000520263,;	746	79	71	SUCCESS
ANKRD55	79722	.	GRCh37	5	55472050	55472050	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	37	71	0	ENST00000341048.4:c.241T>C	p.Leu81=	p.L81=	ENST00000341048	NM_024669.2	81	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34161.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAACAGCA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF21,hmmpanther:PTHR24158,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000342295	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000341048	Transcript	1	.	ENSG00000164512	25681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR55_HUMAN	ANKRD55	HGNC	.	.	UPI00004572EF	SNV	ANKRD55,synonymous_variant,p.%3D,ENST00000341048,;ANKRD55,synonymous_variant,p.%3D,ENST00000513241,;ANKRD55,synonymous_variant,p.%3D,ENST00000504958,;ANKRD55,downstream_gene_variant,,ENST00000519114,;	393	71	91	SUCCESS
ZUFSP	0	.	GRCh37	6	116972883	116972883	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs768215375	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	43	27	0	ENST00000368576.3:c.1168A>T	p.Ile390Phe	p.I390F	ENST00000368576	NM_145062.2	390	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS5110.1	1168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATGCAAG	NONE	.	.	Pfam_domain:PF07910,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF27	.	.	ENSP00000357565	.	7/10	.	.	.	.	.	.	.	.	rs768215375	7/10	PASS	ENST00000368576	Transcript	.	.	ENSG00000153975	21224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0)	.	ZUFSP_HUMAN	ZUFSP	HGNC	.	.	UPI000006E8C6	SNV	ZUFSP,missense_variant,p.Ile390Phe,ENST00000368576,;ZUFSP,downstream_gene_variant,,ENST00000368573,;ZUFSP,downstream_gene_variant,,ENST00000471919,;	1412	27	48	SUCCESS
ZBTB2	57621	.	GRCh37	6	151687721	151687721	+	synonymous_variant	Silent	SNP	C	C	T	rs757054645	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	44	89	0	ENST00000325144.4:c.480G>A	p.Arg160=	p.R160=	ENST00000325144	NM_020861.1	160	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5231.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCCGTGG	NONE	byFrequency	.	hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0	.	.	ENSP00000323183	.	3/3	.	.	.	.	.	.	.	.	rs757054645	3/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,synonymous_variant,p.%3D,ENST00000325144,;	621	89	52	SUCCESS
ZBTB2	57621	.	GRCh37	6	151687722	151687722	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767336276	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	44	90	0	ENST00000325144.4:c.479G>T	p.Arg160Leu	p.R160L	ENST00000325144	NM_020861.1	160	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS5231.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCGTGGA	NONE	byFrequency	.	hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0	.	.	ENSP00000323183	.	3/3	.	.	.	.	.	.	.	.	rs767336276	3/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.17)	.	tolerated(0.26)	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,missense_variant,p.Arg160Leu,ENST00000325144,;	620	90	52	SUCCESS
PRSS16	10279	.	GRCh37	6	27222637	27222637	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	58	53	0	ENST00000230582.3:c.1316T>C	p.Val439Ala	p.V439A	ENST00000230582	NM_005865.3	439	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS4623.1	1316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGTGCTGT	NONE	.	.	hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Pfam_domain:PF05577	.	.	ENSP00000230582	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000230582	Transcript	.	.	ENSG00000112812	9480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	TSSP_HUMAN	PRSS16	HGNC	Q7Z5N5_HUMAN	.	UPI0000137773	SNV	PRSS16,missense_variant,p.Val439Ala,ENST00000230582,;PRSS16,missense_variant,p.Val182Ala,ENST00000421826,;PRSS16,downstream_gene_variant,,ENST00000485993,;PRSS16,downstream_gene_variant,,ENST00000475106,;PRSS16,non_coding_transcript_exon_variant,,ENST00000468138,;PRSS16,non_coding_transcript_exon_variant,,ENST00000471463,;PRSS16,non_coding_transcript_exon_variant,,ENST00000484493,;PRSS16,intron_variant,,ENST00000459736,;PRSS16,intron_variant,,ENST00000478690,;PRSS16,intron_variant,,ENST00000377456,;PRSS16,3_prime_UTR_variant,,ENST00000466364,;PRSS16,3_prime_UTR_variant,,ENST00000454665,;PRSS16,non_coding_transcript_exon_variant,,ENST00000485603,;PRSS16,non_coding_transcript_exon_variant,,ENST00000488649,;PRSS16,intron_variant,,ENST00000481125,;PRSS16,intron_variant,,ENST00000492575,;PRSS16,intron_variant,,ENST00000495683,;PRSS16,downstream_gene_variant,,ENST00000470870,;PRSS16,downstream_gene_variant,,ENST00000468930,;PRSS16,downstream_gene_variant,,ENST00000462664,;	1331	53	169	SUCCESS
ATF6B	1388	.	GRCh37	6	32084267	32084267	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	48	54	0	ENST00000375203.3:c.1872G>A	p.Met624Ile	p.M624I	ENST00000375203	NM_001136153.1	624	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4737.1	1872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCATGGC	NONE	.	.	hmmpanther:PTHR22952:SF107,hmmpanther:PTHR22952	.	.	ENSP00000364349	.	17/18	.	.	.	.	.	.	.	.	COSM483895	17/18	PASS	ENST00000375203	Transcript	.	.	ENSG00000213676	2349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.989)	.	tolerated(0.09)	1	ATF6B_HUMAN	ATF6B	HGNC	.	.	UPI00001261C8	SNV	ATF6B,missense_variant,p.Met621Ile,ENST00000375201,;ATF6B,missense_variant,p.Met624Ile,ENST00000375203,;TNXB,upstream_gene_variant,,ENST00000442721,;ATF6B,downstream_gene_variant,,ENST00000453203,;ATF6B,intron_variant,,ENST00000494022,;ATF6B,downstream_gene_variant,,ENST00000485314,;ATF6B,downstream_gene_variant,,ENST00000495579,;ATF6B,downstream_gene_variant,,ENST00000475705,;ATF6B,downstream_gene_variant,,ENST00000492342,;	1905	54	160	SUCCESS
NOTCH4	4855	.	GRCh37	6	32166274	32166274	+	synonymous_variant	Silent	SNP	C	C	A	rs751335816	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	61	93	0	ENST00000375023.3:c.4680G>T	p.Ala1560=	p.A1560=	ENST00000375023	NM_004557.3	1560	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34420.1	4680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCGCCCC	NONE	byFrequency	.	hmmpanther:PTHR24033,PIRSF_domain:PIRSF002279	.	.	ENSP00000364163	.	26/30	.	.	.	.	.	.	.	.	rs751335816	26/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,synonymous_variant,p.%3D,ENST00000375023,;NOTCH4,upstream_gene_variant,,ENST00000443903,;GPSM3,upstream_gene_variant,,ENST00000375043,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,upstream_gene_variant,,ENST00000491215,;	4819	93	158	SUCCESS
CUL9	23113	.	GRCh37	6	43155007	43155007	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	38	56	1	ENST00000252050.4:c.1411C>T	p.Pro471Ser	p.P471S	ENST00000252050	NM_015089.2	471	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4890.1	1411	RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCCTATG	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	6/41	.	.	.	.	.	.	.	.	.	6/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.045)	.	deleterious(0.01)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Pro471Ser,ENST00000372647,;CUL9,missense_variant,p.Pro471Ser,ENST00000252050,;CUL9,intron_variant,,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,intron_variant,,ENST00000510282,;CUL9,intron_variant,,ENST00000451399,;	1495	57	190	SUCCESS
ZNF318	24149	.	GRCh37	6	43306248	43306248	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	56	125	0	ENST00000361428.2:c.5488A>C	p.Met1830Leu	p.M1830L	ENST00000361428	NM_014345.2	1830	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS4895.2	5488	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCATTAGCA	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Met1830Leu,ENST00000361428,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000605935,;	5566	125	255	SUCCESS
KCNQ5	56479	.	GRCh37	6	73834248	73834248	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	13	63	0	ENST00000370398.1:c.1247+13T>C		p.*416*	ENST00000370398	NM_019842.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55034.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTCTCTT	NONE	.	.	.	.	.	ENSP00000345055	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342056	Transcript	.	.	ENSG00000185760	6299	.	.	MODIFIER	9/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCNQ5	HGNC	A6PVT6_HUMAN	.	UPI000155D644	SNV	KCNQ5,synonymous_variant,p.%3D,ENST00000370392,;KCNQ5,intron_variant,,ENST00000427928,;KCNQ5,intron_variant,,ENST00000402622,;KCNQ5,intron_variant,,ENST00000370398,;KCNQ5,intron_variant,,ENST00000414165,;KCNQ5,intron_variant,,ENST00000403813,;KCNQ5,intron_variant,,ENST00000342056,;KCNQ5,intron_variant,,ENST00000355194,;KCNQ5,intron_variant,,ENST00000355635,;	.	63	20	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113558467	113558467	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	72	0	ENST00000284601.3:c.585T>A	p.Val195=	p.V195=	ENST00000284601	NM_002711.3	195	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5759.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAACCAA	NONE	.	.	PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2,Pfam_domain:PF03370	.	.	ENSP00000284601	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,synonymous_variant,p.%3D,ENST00000284601,;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,intron_variant,,ENST00000284602,;	654	72	116	SUCCESS
SSMEM1	136263	.	GRCh37	7	129856208	129856208	+	synonymous_variant	Silent	SNP	G	G	A	rs374890168	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	96	201	1	ENST00000297819.3:c.633G>A	p.Ala211=	p.A211=	ENST00000297819	NM_145268.3	211	gcG/gcA	0	T:0	.	.	.	.	A	A	protein_coding	YES	CCDS5816.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCGCACCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR31822:SF1,hmmpanther:PTHR31822,Pfam_domain:PF15468	.	T:0.0001	ENSP00000297819	.	3/3	.	.	.	.	.	.	.	.	rs374890168	3/3	PASS	ENST00000297819	Transcript	.	.	ENSG00000165120	29580	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSMM1_HUMAN	SSMEM1	HGNC	A4D1L0_HUMAN	.	UPI00000706B0	SNV	SSMEM1,synonymous_variant,p.%3D,ENST00000297819,;	684	202	345	SUCCESS
PLXNA4	91584	.	GRCh37	7	131829964	131829964	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	40	126	0	ENST00000321063.4:c.5139C>A	p.Ile1713=	p.I1713=	ENST00000321063	NM_020911.1	1713	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS43646.1	5139	RADIA|MUTECT|MUSE|VARSCANS	.	TACTTGATGGC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000352882	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,synonymous_variant,p.%3D,ENST00000321063,;PLXNA4,synonymous_variant,p.%3D,ENST00000359827,;PLXNA4,non_coding_transcript_exon_variant,,ENST00000496550,;	6102	126	176	SUCCESS
ABCB5	340273	.	GRCh37	7	20685646	20685646	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	39	111	0	ENST00000404938.2:c.866T>A	p.Val289Glu	p.V289E	ENST00000404938	NM_001163941.1	289	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS55090.1	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTGTCTC	NONE	.	.	PROSITE_profiles:PS50929,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000384881	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.377)	.	deleterious(0)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Val289Glu,ENST00000404938,;ABCB5,upstream_gene_variant,,ENST00000443026,;ABCB5,upstream_gene_variant,,ENST00000258738,;ABCB5,upstream_gene_variant,,ENST00000406935,;ABCB5,upstream_gene_variant,,ENST00000477094,;AC002486.3,upstream_gene_variant,,ENST00000435098,;	1518	111	155	SUCCESS
TRA2A	29896	.	GRCh37	7	23545860	23545860	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	67	0	ENST00000297071.4:c.667G>C	p.Gly223Arg	p.G223R	ENST00000297071	NM_013293.3	223	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS5383.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCGCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15241,hmmpanther:PTHR15241:SF3,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000297071	.	6/8	.	.	.	.	.	.	.	.	COSM1622711	6/8	PASS	ENST00000297071	Transcript	.	.	ENSG00000164548	16645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	tolerated(0.24)	1	TRA2A_HUMAN	TRA2A	HGNC	Q549U1_HUMAN,B4DUA9_HUMAN	.	UPI00001372AB	SNV	TRA2A,missense_variant,p.Gly122Arg,ENST00000392502,;TRA2A,missense_variant,p.Gly122Arg,ENST00000538367,;TRA2A,missense_variant,p.Gly223Arg,ENST00000297071,;TRA2A,downstream_gene_variant,,ENST00000474586,;TRA2A,upstream_gene_variant,,ENST00000497730,;TRA2A,non_coding_transcript_exon_variant,,ENST00000482395,;TRA2A,upstream_gene_variant,,ENST00000486934,;TRA2A,downstream_gene_variant,,ENST00000494255,;TRA2A,upstream_gene_variant,,ENST00000475970,;	884	67	105	SUCCESS
BLVRA	644	.	GRCh37	7	43846653	43846653	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	51	0	ENST00000265523.4:c.710C>G	p.Ser237Cys	p.S237C	ENST00000265523	NM_000712.3	237	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS5472.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCCTTGG	NONE	.	.	hmmpanther:PTHR22604:SF14,hmmpanther:PTHR22604,Gene3D:3.30.360.10,Pfam_domain:PF09166,PIRSF_domain:PIRSF037032,Superfamily_domains:SSF55347	.	.	ENSP00000385757	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000402924	Transcript	.	.	ENSG00000106605	1062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.29)	.	BIEA_HUMAN	BLVRA	HGNC	C9J1E1_HUMAN	.	UPI0000126937	SNV	BLVRA,missense_variant,p.Ser237Cys,ENST00000265523,;BLVRA,missense_variant,p.Ser237Cys,ENST00000402924,;BLVRA,downstream_gene_variant,,ENST00000486984,;	873	51	64	SUCCESS
VWC2	375567	.	GRCh37	7	49842436	49842436	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	54	0	ENST00000340652.4:c.826G>T	p.Gly276Cys	p.G276C	ENST00000340652	NM_198570.3	276	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS5508.1	826	RADIA|VARSCANS	.	AAAATGGTATG	NONE	.	.	hmmpanther:PTHR11339:SF258,hmmpanther:PTHR11339	.	.	ENSP00000341819	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000340652	Transcript	.	.	ENSG00000188730	30200	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VWC2_HUMAN	VWC2	HGNC	.	.	UPI00002373A5	SNV	VWC2,missense_variant,p.Gly276Cys,ENST00000340652,;	1382	54	39	SUCCESS
ZNF716	441234	.	GRCh37	7	57529339	57529339	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	70	0	ENST00000420713.1:c.1172T>A	p.Leu391Ter	p.L391*	ENST00000420713	NM_001159279.1	391	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS55112.1	1172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTTACCCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000394248	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000420713	Transcript	.	.	ENSG00000182111	32458	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN716_HUMAN	ZNF716	HGNC	.	.	UPI00004192FD	SNV	ZNF716,stop_gained,p.Leu391Ter,ENST00000420713,;	1284	70	71	SUCCESS
TYW1B	441250	.	GRCh37	7	72277659	72277659	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	33	101	0	ENST00000438904.2:c.723G>C	p.Lys241Asn	p.K241N	ENST00000438904		241	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	.	723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACCTTGGT	NONE	.	.	hmmpanther:PTHR13930,hmmpanther:PTHR13930:SF0	.	.	ENSP00000477404	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000438904	Transcript	.	.	ENSG00000254184	33908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0.05)	.	.	TYW1B	HGNC	.	.	UPI0002065470	SNV	TYW1B,missense_variant,p.Lys241Asn,ENST00000438904,;TYW1B,splice_region_variant,,ENST00000437915,;TYW1B,intron_variant,,ENST00000438125,;TYW1B,missense_variant,p.Lys241Asn,ENST00000435769,;	822	101	123	SUCCESS
COL1A2	1278	.	GRCh37	7	94027070	94027070	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	79	138	0	ENST00000297268.6:c.81G>A		p.X27_splice	ENST00000297268	NM_000089.3	27	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS34682.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGGTGAG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	.	.	ENSP00000297268	.	2/52	.	.	.	.	.	.	.	.	.	2/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,synonymous_variant,p.%3D,ENST00000297268,;	552	138	284	SUCCESS
GRHL2	79977	.	GRCh37	8	102504805	102504805	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	34	0	ENST00000251808.3:c.-193T>G		p.*65*	ENST00000251808	NM_024915.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34931.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACCTTTCCGG	NONE	.	.	.	.	.	ENSP00000251808	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000251808	Transcript	1	.	ENSG00000083307	2799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRHL2_HUMAN	GRHL2	HGNC	.	.	UPI000013CD16	SNV	GRHL2,5_prime_UTR_variant,,ENST00000251808,;GRHL2,5_prime_UTR_variant,,ENST00000521085,;GRHL2,upstream_gene_variant,,ENST00000395927,;KB-1562D12.1,upstream_gene_variant,,ENST00000520268,;GRHL2,non_coding_transcript_exon_variant,,ENST00000472106,;	146	34	32	SUCCESS
ZNF7	7553	.	GRCh37	8	146067786	146067786	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs370205689	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	34	0	ENST00000528372.1:c.1294C>T	p.Gln432Ter	p.Q432*	ENST00000528372		432	Cag/Tag	0	G:0	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6435.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCAGCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	G:0.0001	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	rs370205689	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,stop_gained,p.Gln432Ter,ENST00000528372,;ZNF7,stop_gained,p.Gln443Ter,ENST00000446747,;ZNF7,stop_gained,p.Gln432Ter,ENST00000325241,;ZNF7,stop_gained,p.Gln336Ter,ENST00000544249,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000529767,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	1534	34	54	SUCCESS
TTI2	80185	.	GRCh37	8	33361419	33361419	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	37	81	0	ENST00000360742.5:c.962T>A	p.Ile321Asn	p.I321N	ENST00000360742	NM_025115.3	321	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS6090.1	962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGATGGGG	NONE	.	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1,Pfam_domain:PF10521,Superfamily_domains:SSF48371	.	.	ENSP00000411169	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,missense_variant,p.Ile321Asn,ENST00000431156,;TTI2,missense_variant,p.Ile290Asn,ENST00000520636,;TTI2,missense_variant,p.Ile321Asn,ENST00000360742,;MAK16,downstream_gene_variant,,ENST00000360128,;TTI2,non_coding_transcript_exon_variant,,ENST00000519356,;	1581	81	45	SUCCESS
C8orf86	389649	.	GRCh37	8	38386043	38386043	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	28	67	0	ENST00000358138.1:c.113A>G	p.Glu38Gly	p.E38G	ENST00000358138	NM_207412.1	38	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS6108.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTCCTCA	NONE	.	.	.	.	.	ENSP00000350856	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000358138	Transcript	.	.	ENSG00000196166	33774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious_low_confidence(0)	.	CH086_HUMAN	C8orf86	HGNC	.	.	UPI00001C0B34	SNV	C8orf86,missense_variant,p.Glu38Gly,ENST00000437935,;C8orf86,missense_variant,p.Glu38Gly,ENST00000358138,;	138	67	40	SUCCESS
PSMB7	5695	.	GRCh37	9	127174695	127174695	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	46	78	0	ENST00000259457.3:c.331C>G	p.Leu111Val	p.L111V	ENST00000259457	NM_002799.3	111	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6855.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGGGAGT	NONE	.	.	Superfamily_domains:SSF56235,Gene3D:3.60.20.10,Pfam_domain:PF00227,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF42,PROSITE_profiles:PS51476	.	.	ENSP00000259457	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000259457	Transcript	.	.	ENSG00000136930	9544	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0.02)	.	PSB7_HUMAN	PSMB7	HGNC	E9KL30_HUMAN	.	UPI00001325C7	SNV	PSMB7,missense_variant,p.Leu111Val,ENST00000441097,;PSMB7,missense_variant,p.Leu111Val,ENST00000259457,;PSMB7,missense_variant,p.Leu111Val,ENST00000536392,;PSMB7,non_coding_transcript_exon_variant,,ENST00000466951,;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;	345	78	96	SUCCESS
ZBTB43	23099	.	GRCh37	9	129595723	129595723	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	46	0	ENST00000373457.1:c.935A>T	p.Asp312Val	p.D312V	ENST00000373457		312	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6867.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGATGAGC	NONE	.	.	hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF13	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.795)	.	deleterious(0.02)	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,missense_variant,p.Asp312Val,ENST00000373457,;ZBTB43,missense_variant,p.Asp312Val,ENST00000373464,;ZBTB43,missense_variant,p.Asp312Val,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	1199	46	52	SUCCESS
ASS1	445	.	GRCh37	9	133327679	133327679	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762279472	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	63	0	ENST00000352480.5:c.64G>T	p.Val22Leu	p.V22L	ENST00000352480	NM_054012.3	22	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS6933.1	64	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGTGTGG	NONE	.	.	HAMAP:MF_00005,hmmpanther:PTHR11587,hmmpanther:PTHR11587:SF1,Pfam_domain:PF00764,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00032,Superfamily_domains:SSF52402	.	.	ENSP00000361471	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000372394	Transcript	.	.	ENSG00000130707	758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.65)	.	ASSY_HUMAN	ASS1	HGNC	Q8NFZ7_HUMAN,Q5T6L6_HUMAN,Q5T6L4_HUMAN	.	UPI00000015D6	SNV	ASS1,missense_variant,p.Val22Leu,ENST00000372394,;ASS1,missense_variant,p.Val22Leu,ENST00000352480,;ASS1,missense_variant,p.Val22Leu,ENST00000443588,;ASS1,missense_variant,p.Val22Leu,ENST00000372393,;ASS1,missense_variant,p.Val22Leu,ENST00000422569,;snoU13,downstream_gene_variant,,ENST00000458976,;	545	63	47	SUCCESS
KLHL9	55958	.	GRCh37	9	21334479	21334479	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	104	0	ENST00000359039.4:c.380A>G	p.Glu127Gly	p.E127G	ENST00000359039		127	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS6503.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTCAAGT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	tolerated(0.3)	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,missense_variant,p.Glu59Gly,ENST00000537938,;KLHL9,missense_variant,p.Glu127Gly,ENST00000359039,;	901	104	111	SUCCESS
ZBTB5	9925	.	GRCh37	9	37440805	37440805	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	34	67	0	ENST00000307750.4:c.1744C>A	p.Pro582Thr	p.P582T	ENST00000307750	NM_014872.2	582	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6610.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGAGGGC	NONE	.	.	hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF68	.	.	ENSP00000307604	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307750	Transcript	.	.	ENSG00000168795	23836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZBTB5_HUMAN	ZBTB5	HGNC	Q5T942_HUMAN	.	UPI000006FAE2	SNV	ZBTB5,missense_variant,p.Pro582Thr,ENST00000307750,;GRHPR,downstream_gene_variant,,ENST00000318158,;GRHPR,downstream_gene_variant,,ENST00000491488,;GRHPR,downstream_gene_variant,,ENST00000460882,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;GRHPR,downstream_gene_variant,,ENST00000497693,;	1933	67	69	SUCCESS
SLC1A1	6505	.	GRCh37	9	4544613	4544613	+	synonymous_variant	Silent	SNP	T	T	C	rs1347276818	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	48	127	0	ENST00000262352.3:c.138T>C	p.Thr46=	p.T46=	ENST00000262352	NM_004170.5	46	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS6452.1	138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACTCTAGA	NONE	.	.	hmmpanther:PTHR11958:SF25,hmmpanther:PTHR11958,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	.	.	ENSP00000262352	.	2/12	.	.	.	.	.	.	.	.	COSM1462528	2/12	PASS	ENST00000262352	Transcript	.	.	ENSG00000106688	10939	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	EAA3_HUMAN	SLC1A1	HGNC	.	.	UPI0000129B16	SNV	SLC1A1,synonymous_variant,p.%3D,ENST00000262352,;	374	127	195	SUCCESS
GLDC	2731	.	GRCh37	9	6604681	6604681	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	62	104	0	ENST00000321612.6:c.965T>A	p.Val322Glu	p.V322E	ENST00000321612	NM_000170.2	322	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS34987.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCACTCCA	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF02347,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR00461,hmmpanther:PTHR11773,HAMAP:MF_00711	.	.	ENSP00000370737	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000321612	Transcript	.	.	ENSG00000178445	4313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	GCSP_HUMAN	GLDC	HGNC	.	.	UPI0000684276	SNV	GLDC,missense_variant,p.Val322Glu,ENST00000321612,;GLDC,intron_variant,,ENST00000463305,;	1116	105	235	SUCCESS
KDM4C	23081	.	GRCh37	9	7103697	7103697	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	57	0	ENST00000381309.3:c.2437T>G	p.Cys813Gly	p.C813G	ENST00000381309	NM_015061.3	813	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS6471.1	2437	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTGCAGA	NONE	.	.	hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694,Pfam_domain:PF13832,SMART_domains:SM00249	.	.	ENSP00000370710	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,missense_variant,p.Cys813Gly,ENST00000381306,;KDM4C,missense_variant,p.Cys813Gly,ENST00000381309,;KDM4C,missense_variant,p.Cys500Gly,ENST00000428870,;KDM4C,missense_variant,p.Cys157Gly,ENST00000420847,;KDM4C,missense_variant,p.Cys558Gly,ENST00000442236,;KDM4C,synonymous_variant,p.%3D,ENST00000536108,;KDM4C,non_coding_transcript_exon_variant,,ENST00000495890,;KDM4C,upstream_gene_variant,,ENST00000490806,;	3002	57	97	SUCCESS
KDM4C	23081	.	GRCh37	9	7103698	7103698	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	55	0	ENST00000381309.3:c.2438G>A	p.Cys813Tyr	p.C813Y	ENST00000381309	NM_015061.3	813	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS6471.1	2438	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGCAGAC	NONE	.	.	hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694,Pfam_domain:PF13832,SMART_domains:SM00249	.	.	ENSP00000370710	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,missense_variant,p.Cys813Tyr,ENST00000381306,;KDM4C,missense_variant,p.Cys813Tyr,ENST00000381309,;KDM4C,missense_variant,p.Ala596Thr,ENST00000536108,;KDM4C,missense_variant,p.Cys500Tyr,ENST00000428870,;KDM4C,missense_variant,p.Cys157Tyr,ENST00000420847,;KDM4C,missense_variant,p.Cys558Tyr,ENST00000442236,;KDM4C,non_coding_transcript_exon_variant,,ENST00000495890,;KDM4C,upstream_gene_variant,,ENST00000490806,;	3003	55	96	SUCCESS
IRS4	8471	.	GRCh37	X	107977380	107977380	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	74	105	0	ENST00000372129.2:c.2195A>G	p.His732Arg	p.H732R	ENST00000372129	NM_003604.2	732	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS14544.1	2195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGGCGC	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.His732Arg,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	2272	105	81	SUCCESS
SLC25A14	9016	.	GRCh37	X	129499410	129499410	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	82	30	0	ENST00000218197.5:c.720-105T>C		p.*240*	ENST00000218197	NM_022810.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14623.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTTATCTGAT	NONE	.	.	.	.	.	ENSP00000218197	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000218197	Transcript	.	.	ENSG00000102078	10984	.	.	MODIFIER	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UCP5_HUMAN	SLC25A14	HGNC	Q5JY88_HUMAN,B4DMK1_HUMAN,B4DJN2_HUMAN	.	UPI0000137A3B	SNV	SLC25A14,3_prime_UTR_variant,,ENST00000543953,;SLC25A14,intron_variant,,ENST00000339231,;SLC25A14,intron_variant,,ENST00000361980,;SLC25A14,intron_variant,,ENST00000218197,;SLC25A14,downstream_gene_variant,,ENST00000545805,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000465988,;SLC25A14,intron_variant,,ENST00000478474,;SLC25A14,intron_variant,,ENST00000464342,;SLC25A14,intron_variant,,ENST00000467496,;SLC25A14,downstream_gene_variant,,ENST00000471795,;SLC25A14,downstream_gene_variant,,ENST00000495156,;	.	30	87	SUCCESS
MAGEA6	4105	.	GRCh37	X	151869392	151869392	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	29	51	0	ENST00000329342.5:c.82G>T	p.Ala28Ser	p.A28S	ENST00000329342	NM_005363.2	28	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14708.1	82	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGCGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF12440	.	.	ENSP00000329199	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329342	Transcript	.	.	ENSG00000197172	6804	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.961)	.	tolerated(0.06)	.	MAGA6_HUMAN	MAGEA6	HGNC	E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN	.	UPI000000D9B0	SNV	MAGEA6,missense_variant,p.Ala28Ser,ENST00000412733,;MAGEA6,missense_variant,p.Ala28Ser,ENST00000457643,;MAGEA6,missense_variant,p.Ala28Ser,ENST00000329342,;	307	51	91	SUCCESS
MAGEA6	4105	.	GRCh37	X	151870008	151870008	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782250868	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	9	121	0	ENST00000329342.5:c.698G>T	p.Gly233Val	p.G233V	ENST00000329342	NM_005363.2	233	gGg/gTg	0	.	A:0	.	A:0	.	T	G/V	protein_coding	YES	CCDS14708.1	698	MUTECT|MUSE	.	TGAGGGGAGGG	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF01454	A:0.001	.	ENSP00000329199	A:0	3/3	.	.	.	.	.	.	.	.	rs782250868	3/3	PASS	ENST00000329342	Transcript	.	A:0.0003	ENSG00000197172	6804	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.941)	A:0	deleterious(0)	.	MAGA6_HUMAN	MAGEA6	HGNC	E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN	.	UPI000000D9B0	SNV	MAGEA6,missense_variant,p.Gly233Val,ENST00000457643,;MAGEA6,missense_variant,p.Gly233Val,ENST00000329342,;MAGEA6,downstream_gene_variant,,ENST00000412733,;	923	121	204	SUCCESS
ITM2A	9452	.	GRCh37	X	78618461	78618461	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	133	134	0	ENST00000373298.2:c.419C>G	p.Ala140Gly	p.A140G	ENST00000373298	NM_004867.4	140	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS14444.1	419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTGCTGCA	NONE	.	.	PROSITE_profiles:PS50869,hmmpanther:PTHR10962,hmmpanther:PTHR10962:SF7,Pfam_domain:PF04089,SMART_domains:SM01039	.	.	ENSP00000362395	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000373298	Transcript	.	.	ENSG00000078596	6173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.639)	.	tolerated(0.4)	.	ITM2A_HUMAN	ITM2A	HGNC	.	.	UPI000000D98A	SNV	ITM2A,missense_variant,p.Ala140Gly,ENST00000373298,;ITM2A,missense_variant,p.Ala96Gly,ENST00000434584,;ITM2A,non_coding_transcript_exon_variant,,ENST00000482194,;ITM2A,non_coding_transcript_exon_variant,,ENST00000469541,;ITM2A,downstream_gene_variant,,ENST00000461357,;ITM2A,downstream_gene_variant,,ENST00000462038,;	563	134	149	SUCCESS
PABPC5	140886	.	GRCh37	X	90690655	90690655	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	57	0	ENST00000312600.3:c.79C>T	p.Pro27Ser	p.P27S	ENST00000312600	NM_080832.2	27	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS14460.1	79	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCCAGAT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF241,hmmpanther:PTHR24011,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.07)	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,missense_variant,p.Pro27Ser,ENST00000312600,;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	293	57	57	SUCCESS
CNNM1	26507	.	GRCh37	10	101124744	101124744	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	55	0	ENST00000356713.4:c.2162del	p.Gly721AspfsTer6	p.G721Dfs*6	ENST00000356713	NM_020348.2	721	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS7478.2	2161	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGCTGGATCT	NONE	.	.	hmmpanther:PTHR12064:SF28,hmmpanther:PTHR12064	.	.	ENSP00000349147	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000356713	Transcript	.	.	ENSG00000119946	102	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNNM1_HUMAN	CNNM1	HGNC	F2YHU6_HUMAN,B3KPD2_HUMAN	.	UPI0000E19A44	deletion	CNNM1,frameshift_variant,p.Gly356AspfsTer27,ENST00000370534,;CNNM1,frameshift_variant,p.Gly650AspfsTer6,ENST00000446890,;CNNM1,frameshift_variant,p.Gly650AspfsTer6,ENST00000370528,;CNNM1,frameshift_variant,p.Gly721AspfsTer6,ENST00000356713,;CNNM1,upstream_gene_variant,,ENST00000488090,;	2450	55	83	SUCCESS
TDRD1	56165	.	GRCh37	10	115959029	115959029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	79	136	0	ENST00000251864.2:c.482T>C	p.Leu161Ser	p.L161S	ENST00000251864	NM_198795.1	161	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS7588.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTAGGAC	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4	.	.	ENSP00000251864	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,missense_variant,p.Leu161Ser,ENST00000369282,;TDRD1,missense_variant,p.Leu161Ser,ENST00000369281,;TDRD1,missense_variant,p.Leu161Ser,ENST00000251864,;TDRD1,missense_variant,p.Leu161Ser,ENST00000369280,;TDRD1,5_prime_UTR_variant,,ENST00000422662,;	635	136	143	SUCCESS
VWA2	340706	.	GRCh37	10	116048949	116048949	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	40	0	ENST00000392982.3:c.1823G>T	p.Gly608Val	p.G608V	ENST00000392982	NM_001272046.1	608	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	.	1823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGCTCAG	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF9,PROSITE_profiles:PS50234	.	.	ENSP00000473752	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000603594	Transcript	.	.	ENSG00000165816	24709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	tolerated(0.06)	.	VWA2_HUMAN	VWA2	HGNC	.	.	UPI00001C0885	SNV	VWA2,missense_variant,p.Gly608Val,ENST00000603594,;VWA2,missense_variant,p.Gly608Val,ENST00000392982,;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;	2144	40	28	SUCCESS
KIAA1217	56243	.	GRCh37	10	24813464	24813464	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	46	0	ENST00000376454.3:c.2669C>G	p.Ser890Cys	p.S890C	ENST00000376454	NM_019590.3	890	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS31165.1	2669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCCCCTG	BUFFER|p.A887T|c.2659G>A|3	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Ser890Cys,ENST00000376454,;KIAA1217,missense_variant,p.Ser573Cys,ENST00000396445,;KIAA1217,missense_variant,p.Ser573Cys,ENST00000307544,;KIAA1217,missense_variant,p.Ser573Cys,ENST00000396446,;KIAA1217,missense_variant,p.Ser573Cys,ENST00000376451,;KIAA1217,missense_variant,p.Ser855Cys,ENST00000376456,;KIAA1217,missense_variant,p.Ser855Cys,ENST00000376452,;KIAA1217,missense_variant,p.Ser810Cys,ENST00000376462,;KIAA1217,missense_variant,p.Ser705Cys,ENST00000438429,;KIAA1217,missense_variant,p.Ser855Cys,ENST00000458595,;KIAA1217,intron_variant,,ENST00000430453,;	2699	46	42	SUCCESS
SVILP1	0	.	GRCh37	10	30986401	30986401	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	18	0	ENST00000422642.1:n.1020T>A		p.*340*	ENST00000422642				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGTGGG	NONE	.	.	.	.	.	.	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000422642	Transcript	.	.	ENSG00000234814	44959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SVILP1	HGNC	.	.	.	SNV	SVILP1,non_coding_transcript_exon_variant,,ENST00000435645,;SVILP1,non_coding_transcript_exon_variant,,ENST00000429171,;SVILP1,non_coding_transcript_exon_variant,,ENST00000422642,;	1020	18	27	SUCCESS
FAM21C	0	.	GRCh37	10	46272808	46272808	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	108	246	0	ENST00000374362.2:c.2230A>T	p.Lys744Ter	p.K744*	ENST00000374362		744	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS44374.2	2230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATAAGAAG	NONE	.	.	hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669	.	.	ENSP00000363482	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000374362	Transcript	.	.	ENSG00000172661	23414	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA21C_HUMAN	FAM21C	HGNC	.	.	UPI0000551BE9	SNV	FAM21C,stop_gained,p.Lys744Ter,ENST00000374362,;FAM21C,stop_gained,p.Lys742Ter,ENST00000336378,;FAM21C,stop_gained,p.Lys686Ter,ENST00000359860,;FAM21C,stop_gained,p.Lys744Ter,ENST00000540872,;FAM21C,intron_variant,,ENST00000537517,;FAM21C,upstream_gene_variant,,ENST00000374359,;	2329	246	234	SUCCESS
PCDH15	65217	.	GRCh37	10	55912909	55912909	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	83	0	ENST00000320301.6:c.1735T>A	p.Tyr579Asn	p.Y579N	ENST00000320301	NM_033056.3	579	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS44404.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTAAGTCC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	14/34	.	.	.	.	.	.	.	.	.	14/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Tyr579Asn,ENST00000437009,;PCDH15,missense_variant,p.Tyr557Asn,ENST00000395433,;PCDH15,missense_variant,p.Tyr586Asn,ENST00000395445,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000320301,;PCDH15,missense_variant,p.Tyr190Asn,ENST00000409834,;PCDH15,missense_variant,p.Tyr542Asn,ENST00000395432,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000373955,;PCDH15,missense_variant,p.Tyr557Asn,ENST00000373957,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000361849,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000395438,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000395446,;PCDH15,missense_variant,p.Tyr584Asn,ENST00000414778,;PCDH15,missense_variant,p.Tyr586Asn,ENST00000373965,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000395430,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Tyr579Asn,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	2130	83	85	SUCCESS
RHOBTB1	9886	.	GRCh37	10	62647978	62647978	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	71	0	ENST00000337910.5:c.1448C>T	p.Thr483Met	p.T483M	ENST00000337910	NM_001242359.1	483	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS7261.1	1448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACGTTCCC	NONE	.	.	Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	.	.	ENSP00000338671	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000337910	Transcript	.	.	ENSG00000072422	18738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	tolerated(0.12)	.	RHBT1_HUMAN	RHOBTB1	HGNC	Q567T3_HUMAN	.	UPI000000D9B7	SNV	RHOBTB1,missense_variant,p.Thr483Met,ENST00000337910,;RHOBTB1,missense_variant,p.Thr483Met,ENST00000357917,;RHOBTB1,non_coding_transcript_exon_variant,,ENST00000483488,;	1786	71	63	SUCCESS
JMJD1C	221037	.	GRCh37	10	64975367	64975367	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	78	0	ENST00000399262.2:c.768del	p.Ile256MetfsTer34	p.I256Mfs*34	ENST00000399262	NM_032776.1	256	atT/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS41532.1	768	INDELOCATOR*|VARSCANI*|PINDEL	.	AATGCCAATATT	NONE	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	.	.	ENSP00000382204	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000399262	Transcript	1	.	ENSG00000171988	12313	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JHD2C_HUMAN	JMJD1C	HGNC	.	.	UPI0000198BEF	deletion	JMJD1C,frameshift_variant,p.Ile37MetfsTer34,ENST00000399251,;JMJD1C,frameshift_variant,p.Ile256MetfsTer34,ENST00000399262,;JMJD1C,frameshift_variant,p.Ile74MetfsTer34,ENST00000542921,;JMJD1C,frameshift_variant,p.Ile37MetfsTer34,ENST00000402544,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000469152,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000489372,;	987	78	78	SUCCESS
DDX21	9188	.	GRCh37	10	70730090	70730090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	69	0	ENST00000354185.4:c.1370A>T	p.Asn457Ile	p.N457I	ENST00000354185	NM_001256910.1	457	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS31211.1	1370	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAATTCAG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF197,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000346120	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000354185	Transcript	.	.	ENSG00000165732	2744	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.27)	.	deleterious(0)	.	DDX21_HUMAN	DDX21	HGNC	Q8NI92_HUMAN	.	UPI00001A92E8	SNV	DDX21,missense_variant,p.Asn457Ile,ENST00000354185,;RN7SL373P,downstream_gene_variant,,ENST00000577512,;	1468	69	85	SUCCESS
ZSWIM8	23053	.	GRCh37	10	75551817	75551817	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	81	1	ENST00000605216.1:c.1520G>T	p.Cys507Phe	p.C507F	ENST00000605216	NM_001242487.1	507	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS44440.1	1520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTGCTGGG	NONE	.	.	hmmpanther:PTHR22619	.	.	ENSP00000381693	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000398706	Transcript	.	.	ENSG00000214655	23528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ZSWM8_HUMAN	ZSWIM8	HGNC	.	.	UPI0000ED938E	SNV	ZSWIM8,missense_variant,p.Cys507Phe,ENST00000604729,;ZSWIM8,missense_variant,p.Cys507Phe,ENST00000604524,;ZSWIM8,missense_variant,p.Cys507Phe,ENST00000603114,;ZSWIM8,missense_variant,p.Cys507Phe,ENST00000605216,;ZSWIM8,missense_variant,p.Cys507Phe,ENST00000398706,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8-AS1,downstream_gene_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000431225,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,missense_variant,p.Cys126Phe,ENST00000492395,;ZSWIM8,missense_variant,p.Cys507Phe,ENST00000433366,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;	1737	82	63	SUCCESS
RRP12	23223	.	GRCh37	10	99161091	99161091	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	25	0	ENST00000370992.4:c.-103A>T		p.*35*	ENST00000370992	NM_015179.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7457.1	.	MUTECT|MUSE	.	TCCTCTTCTTC	NONE	.	.	.	.	.	ENSP00000360031	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000370992	Transcript	.	.	ENSG00000052749	29100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RRP12_HUMAN	RRP12	HGNC	.	.	UPI000013E51C	SNV	RRP12,5_prime_UTR_variant,,ENST00000414986,;RRP12,5_prime_UTR_variant,,ENST00000370992,;RRP12,upstream_gene_variant,,ENST00000315563,;RP11-452K12.7,non_coding_transcript_exon_variant,,ENST00000422848,;	10	25	31	SUCCESS
GRIA4	2893	.	GRCh37	11	105769114	105769114	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	67	141	0	ENST00000282499.5:c.846A>T	p.Leu282=	p.L282=	ENST00000282499	NM_000829.3	282	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8333.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTAGATCA	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000282499	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,synonymous_variant,p.%3D,ENST00000282499,;GRIA4,synonymous_variant,p.%3D,ENST00000530497,;GRIA4,synonymous_variant,p.%3D,ENST00000393127,;GRIA4,synonymous_variant,p.%3D,ENST00000525187,;GRIA4,synonymous_variant,p.%3D,ENST00000428631,;GRIA4,synonymous_variant,p.%3D,ENST00000393125,;GRIA4,non_coding_transcript_exon_variant,,ENST00000527687,;	1292	141	166	SUCCESS
MICAL2	9645	.	GRCh37	11	12265545	12265545	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	9	102	0	ENST00000256194.4:c.2670C>T	p.Leu890=	p.L890=	ENST00000256194	NM_014632.2	890	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7809.1	2670	MUTECT|MUSE	.	CTACTCTCTAA	NONE	.	.	hmmpanther:PTHR11915:SF239,hmmpanther:PTHR11915	.	.	ENSP00000256194	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000256194	Transcript	.	.	ENSG00000133816	24693	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MICA2_HUMAN	MICAL2	HGNC	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN	.	UPI000000DA92	SNV	MICAL2,synonymous_variant,p.%3D,ENST00000256194,;MICAL2,synonymous_variant,p.%3D,ENST00000342902,;MICAL2,intron_variant,,ENST00000379612,;MICAL2,intron_variant,,ENST00000527546,;MICAL2,intron_variant,,ENST00000537344,;MICAL2,non_coding_transcript_exon_variant,,ENST00000526475,;MICAL2,intron_variant,,ENST00000534563,;MICAL2,intron_variant,,ENST00000525979,;MICAL2,downstream_gene_variant,,ENST00000525216,;MICAL2,intron_variant,,ENST00000528931,;MICAL2,intron_variant,,ENST00000525075,;MICAL2,intron_variant,,ENST00000530691,;	2958	102	122	SUCCESS
SCN3B	55800	.	GRCh37	11	123524465	123524465	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	35	68	0	ENST00000299333.3:c.45T>A	p.Leu15=	p.L15=	ENST00000299333	NM_001040151.1	15	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8442.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATAAGCAC	NONE	.	.	hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF1,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000376523	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000392770	Transcript	.	.	ENSG00000166257	20665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN3B_HUMAN	SCN3B	HGNC	E9PQS8_HUMAN,E9PJP6_HUMAN	.	UPI00000341C8	SNV	SCN3B,synonymous_variant,p.%3D,ENST00000299333,;SCN3B,synonymous_variant,p.%3D,ENST00000530277,;SCN3B,synonymous_variant,p.%3D,ENST00000392770,;SCN3B,synonymous_variant,p.%3D,ENST00000528267,;SCN3B,synonymous_variant,p.%3D,ENST00000527836,;	848	68	66	SUCCESS
KCNJ5	3762	.	GRCh37	11	128781082	128781082	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	33	0	ENST00000338350.4:c.-10-77G>T		p.*4*	ENST00000338350				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8479.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGTGGGG	NONE	.	.	.	.	.	ENSP00000433295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000529694	Transcript	.	.	ENSG00000120457	6266	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK5_HUMAN	KCNJ5	HGNC	H9A8L0_HUMAN,H9A8K9_HUMAN	.	UPI000013D428	SNV	KCNJ5,5_prime_UTR_variant,,ENST00000533599,;KCNJ5,intron_variant,,ENST00000338350,;KCNJ5,intron_variant,,ENST00000529694,;	.	33	36	SUCCESS
NFRKB	4798	.	GRCh37	11	129751605	129751629	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAAAAAGAGCATCTTACCTCGACTT	AAAAAAGAGCATCTTACCTCGACTT	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	AAAAAAGAGCATCTTACCTCGACTT	AAAAAAGAGCATCTTACCTCGACTT	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	93	0	ENST00000446488.3:c.1311_1318+17del		p.X437_splice	ENST00000446488	NM_001143835.1	437		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8483.1	1386-?	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTACAAAAAAGAGCATCTTACCTCGACTTTCTCC	NONE	.	.	.	.	.	ENSP00000436926	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000524794	Transcript	.	.	ENSG00000170322	7802	.	.	HIGH	10/24	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFRKB_HUMAN	NFRKB	HGNC	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN	.	UPI000006E542	deletion	NFRKB,splice_donor_variant,,ENST00000531755,;NFRKB,splice_donor_variant,,ENST00000524794,;NFRKB,splice_donor_variant,,ENST00000446488,;NFRKB,splice_donor_variant,,ENST00000524746,;NFRKB,splice_donor_variant,,ENST00000304521,;NFRKB,downstream_gene_variant,,ENST00000529319,;NFRKB,downstream_gene_variant,,ENST00000532225,;NFRKB,downstream_gene_variant,,ENST00000530278,;	1507-?	93	95	SUCCESS
SAA4	6291	.	GRCh37	11	18253952	18253952	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	33	106	0	ENST00000278222.4:c.220A>G	p.Lys74Glu	p.K74E	ENST00000278222	NM_006512.3	74	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS7832.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTTAGCAG	NONE	.	.	hmmpanther:PTHR23424:SF3,hmmpanther:PTHR23424,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197,Prints_domain:PR00306	.	.	ENSP00000278222	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000278222	Transcript	.	.	ENSG00000148965	10516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.55)	.	SAA4_HUMAN	SAA4	HGNC	.	.	UPI00001AEA25	SNV	SAA4,missense_variant,p.Lys74Glu,ENST00000278222,;SAA2-SAA4,non_coding_transcript_exon_variant,,ENST00000524555,;	401	106	113	SUCCESS
MRGPRX2	117194	.	GRCh37	11	19077115	19077115	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	73	0	ENST00000329773.2:c.835T>A	p.Tyr279Asn	p.Y279N	ENST00000329773	NM_054030.2	279	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS7847.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTAAATGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF25,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000333800	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329773	Transcript	.	.	ENSG00000183695	17983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MRGX2_HUMAN	MRGPRX2	HGNC	.	.	UPI0000038C81	SNV	MRGPRX2,missense_variant,p.Tyr279Asn,ENST00000329773,;	923	73	76	SUCCESS
OR4X1	390113	.	GRCh37	11	48285788	48285788	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	69	0	ENST00000320048.1:c.376A>T	p.Lys126Ter	p.K126*	ENST00000320048	NM_001004726.1	126	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31487.1	376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAAGCCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF271,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000321506	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320048	Transcript	.	.	ENSG00000176567	14854	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4X1_HUMAN	OR4X1	HGNC	.	.	UPI0000041BDE	SNV	OR4X1,stop_gained,p.Lys126Ter,ENST00000320048,;	376	69	87	SUCCESS
OR4C11	219429	.	GRCh37	11	55371245	55371245	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	23	107	0	ENST00000302231.4:c.605G>A	p.Gly202Glu	p.G202E	ENST00000302231	NM_001004700.2	202	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS31503.1	605	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCCACTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000306651	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302231	Transcript	.	.	ENSG00000172188	15167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OR4CB_HUMAN	OR4C11	HGNC	.	.	UPI000013E7AD	SNV	OR4C11,missense_variant,p.Gly202Glu,ENST00000302231,;	630	107	150	SUCCESS
OR4C6	219432	.	GRCh37	11	55433436	55433436	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs367617569	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	70	0	ENST00000314259.3:c.794T>C	p.Ile265Thr	p.I265T	ENST00000314259	NM_001004704.1	265	aTa/aCa	0	C:0	.	.	.	.	C	I/T	protein_coding	YES	CCDS31506.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATAGACA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF80,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	C:0.0001	ENSP00000324769	.	1/1	.	.	.	.	.	.	.	.	rs367617569	1/1	PASS	ENST00000314259	Transcript	.	.	ENSG00000181903	14743	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	deleterious_low_confidence(0.04)	.	OR4C6_HUMAN	OR4C6	HGNC	.	.	UPI0000041868	SNV	OR4C6,missense_variant,p.Ile265Thr,ENST00000314259,;	823	70	68	SUCCESS
OR5AS1	219447	.	GRCh37	11	55798176	55798176	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	45	0	ENST00000313555.1:c.282T>A	p.Pro94=	p.P94=	ENST00000313555	NM_001001921.1	94	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31516.1	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTTATGG	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF153,PROSITE_profiles:PS50262	.	.	ENSP00000324111	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313555	Transcript	.	.	ENSG00000181785	15261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O5AS1_HUMAN	OR5AS1	HGNC	.	.	UPI000004B1FB	SNV	OR5AS1,synonymous_variant,p.%3D,ENST00000313555,;	282	45	72	SUCCESS
OR8J3	81168	.	GRCh37	11	55905001	55905001	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	56	88	0	ENST00000301529.1:c.194A>T	p.His65Leu	p.H65L	ENST00000301529	NM_001004064.1	65	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS31520.1	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGATGTCTC	BUFFER|p.F62F|c.186C>T|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000301529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301529	Transcript	.	.	ENSG00000167822	15312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious(0)	.	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,missense_variant,p.His65Leu,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;OR8K4P,downstream_gene_variant,,ENST00000534608,;	194	88	125	SUCCESS
OR5M10	390167	.	GRCh37	11	56344760	56344760	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	56	109	0	ENST00000526812.2:c.438T>A	p.Thr146=	p.T146=	ENST00000526812	NM_001004741.1	146	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS53630.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGTGAC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,PROSITE_profiles:PS50262	.	.	ENSP00000436004	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526812	Transcript	.	.	ENSG00000254834	15290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5MA_HUMAN	OR5M10	HGNC	.	.	UPI0000041BEE	SNV	OR5M10,synonymous_variant,p.%3D,ENST00000526812,;	504	109	145	SUCCESS
PRG3	10394	.	GRCh37	11	57147137	57147137	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	75	0	ENST00000287143.2:c.205T>A	p.Cys69Ser	p.C69S	ENST00000287143	NM_006093.3	69	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS7954.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACAGGCAG	NONE	.	.	hmmpanther:PTHR10068:SF8,hmmpanther:PTHR10068	.	.	ENSP00000287143	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000287143	Transcript	.	.	ENSG00000156575	9363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.44)	.	PRG3_HUMAN	PRG3	HGNC	.	.	UPI000013DE94	SNV	PRG3,missense_variant,p.Cys69Ser,ENST00000287143,;	315	75	104	SUCCESS
OR56B1	387748	.	GRCh37	11	5758461	5758461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	54	0	ENST00000317121.3:c.715T>A	p.Ser239Thr	p.S239T	ENST00000317121	NM_001005180.2	239	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31395.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACTCAGCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR23360:SF12,hmmpanther:PTHR23360,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322939	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317121	Transcript	.	.	ENSG00000181023	15245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.21)	.	O56B1_HUMAN	OR56B1	HGNC	.	.	UPI0000046199	SNV	OR56B1,missense_variant,p.Ser239Thr,ENST00000317121,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;TRIM22,downstream_gene_variant,,ENST00000444844,;TRIM22,downstream_gene_variant,,ENST00000429063,;	781	54	50	SUCCESS
PCNXL3	0	.	GRCh37	11	65391690	65391690	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	25	0	ENST00000355703.3:c.2569A>T	p.Ser857Cys	p.S857C	ENST00000355703	NM_032223.2	857	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS44650.1	2569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTACAGCCGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	.	.	ENSP00000347931	.	14/35	.	.	.	.	.	.	.	.	.	14/35	PASS	ENST00000355703	Transcript	.	.	ENSG00000197136	18760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PCX3_HUMAN	PCNXL3	HGNC	.	.	UPI0000405B22	SNV	PCNXL3,missense_variant,p.Ser857Cys,ENST00000355703,;PCNXL3,downstream_gene_variant,,ENST00000531045,;PCNXL3,upstream_gene_variant,,ENST00000530174,;PCNXL3,upstream_gene_variant,,ENST00000439247,;	3108	25	39	SUCCESS
WSCD2	9671	.	GRCh37	12	108589596	108589596	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs772078632	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	58	0	ENST00000332082.4:c.-14G>A		p.*5*	ENST00000332082				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41828.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCGGAATG	NONE	byFrequency	.	.	.	.	ENSP00000331933	.	3/10	.	.	.	.	.	.	.	.	rs772078632	3/10	PASS	ENST00000332082	Transcript	.	.	ENSG00000075035	29117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WSCD2_HUMAN	WSCD2	HGNC	F8W030_HUMAN	.	UPI00001C1F3A	SNV	WSCD2,5_prime_UTR_variant,,ENST00000332082,;WSCD2,5_prime_UTR_variant,,ENST00000547525,;WSCD2,5_prime_UTR_variant,,ENST00000261400,;WSCD2,intron_variant,,ENST00000551638,;WSCD2,upstream_gene_variant,,ENST00000549903,;WSCD2,downstream_gene_variant,,ENST00000551106,;WSCD2,downstream_gene_variant,,ENST00000550529,;WSCD2,downstream_gene_variant,,ENST00000546811,;WSCD2,downstream_gene_variant,,ENST00000551057,;WSCD2,downstream_gene_variant,,ENST00000552195,;WSCD2,downstream_gene_variant,,ENST00000551734,;WSCD2,downstream_gene_variant,,ENST00000546401,;WSCD2,upstream_gene_variant,,ENST00000547185,;	805	58	77	SUCCESS
RASAL1	8437	.	GRCh37	12	113553065	113553065	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	35	86	0	ENST00000261729.5:c.1008C>A	p.Asp336Glu	p.D336E	ENST00000261729		336	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS55889.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGTCCAC	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR10194:SF3,hmmpanther:PTHR10194,Pfam_domain:PF00616,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350	.	.	ENSP00000450244	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000546530	Transcript	.	.	ENSG00000111344	9873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	tolerated(0.78)	.	RASL1_HUMAN	RASAL1	HGNC	.	.	UPI0001DD37FE	SNV	RASAL1,missense_variant,p.Asp336Glu,ENST00000261729,;RASAL1,missense_variant,p.Asp336Glu,ENST00000548055,;RASAL1,missense_variant,p.Asp336Glu,ENST00000446861,;RASAL1,missense_variant,p.Asp336Glu,ENST00000546530,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,downstream_gene_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;	1294	86	138	SUCCESS
SETD1B	23067	.	GRCh37	12	122261330	122261330	+	synonymous_variant	Silent	SNP	C	C	T	rs867095489	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	27	0	ENST00000604567.1:c.4845C>T	p.Ser1615=	p.S1615=	ENST00000604567		1615	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS53838.1	4716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCCGAGGC	NONE	.	.	hmmpanther:PTHR22884:SF296,hmmpanther:PTHR22884	.	.	ENSP00000267197	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000267197	Transcript	.	.	ENSG00000139718	29187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SET1B_HUMAN	SETD1B	HGNC	.	.	UPI00006C12ED	SNV	SETD1B,synonymous_variant,p.%3D,ENST00000604567,;SETD1B,synonymous_variant,p.%3D,ENST00000542440,;SETD1B,synonymous_variant,p.%3D,ENST00000267197,;	4722	27	42	SUCCESS
VPS33A	65082	.	GRCh37	12	122717409	122717409	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780640051	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	75	0	ENST00000267199.4:c.1547G>T	p.Arg516Leu	p.R516L	ENST00000267199	NM_022916.4	516	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS9231.1	1547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCGGAGG	NONE	.	.	hmmpanther:PTHR11679:SF31,hmmpanther:PTHR11679,Gene3D:3.40.50.1910,Pfam_domain:PF00995,Superfamily_domains:SSF56815	.	.	ENSP00000267199	.	12/13	.	.	.	.	.	.	.	.	rs780640051	12/13	PASS	ENST00000267199	Transcript	.	.	ENSG00000139719	18179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.27)	.	VP33A_HUMAN	VPS33A	HGNC	Q9H6C4_HUMAN	.	UPI000000D7AA	SNV	VPS33A,missense_variant,p.Arg516Leu,ENST00000267199,;VPS33A,non_coding_transcript_exon_variant,,ENST00000541169,;RP11-512M8.5,missense_variant,p.Arg477Leu,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;	1660	75	104	SUCCESS
PDE3A	5139	.	GRCh37	12	20523005	20523005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	28	0	ENST00000359062.3:c.787G>T	p.Ala263Ser	p.A263S	ENST00000359062	NM_001244683.1	263	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31754.1	787	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCGCGGAG	NONE	.	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347	.	.	ENSP00000351957	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.56)	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.Ala263Ser,ENST00000359062,;RP11-284H19.1,non_coding_transcript_exon_variant,,ENST00000535755,;PDE3A,upstream_gene_variant,,ENST00000542675,;	827	28	35	SUCCESS
NR4A1	3164	.	GRCh37	12	52452600	52452600	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs577412593	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	36	0	ENST00000243050.1:c.1669G>C	p.Gly557Arg	p.G557R	ENST00000243050	NM_002135.4	557	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS55828.1	1708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGGCAAA	NONE	byCluster	.	hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398,Prints_domain:PR01284	.	.	ENSP00000353427	.	8/8	.	.	.	.	.	.	.	.	rs577412593	8/8	PASS	ENST00000360284	Transcript	.	.	ENSG00000123358	7980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.05)	.	NR4A1_HUMAN	NR4A1	HGNC	H3BT85_HUMAN,H3BSB9_HUMAN,H3BPN8_HUMAN	.	UPI00001FC28B	SNV	NR4A1,missense_variant,p.Gly557Arg,ENST00000394824,;NR4A1,missense_variant,p.Gly570Arg,ENST00000550082,;NR4A1,missense_variant,p.Gly557Arg,ENST00000243050,;NR4A1,missense_variant,p.Gly570Arg,ENST00000360284,;NR4A1,missense_variant,p.Gly557Arg,ENST00000394825,;NR4A1,missense_variant,p.Gly611Arg,ENST00000545748,;NR4A1,downstream_gene_variant,,ENST00000562373,;NR4A1,downstream_gene_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000548232,;NR4A1,downstream_gene_variant,,ENST00000546842,;NR4A1,downstream_gene_variant,,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000548977,;RP11-1100L3.8,non_coding_transcript_exon_variant,,ENST00000564363,;RP11-1100L3.8,intron_variant,,ENST00000564531,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,downstream_gene_variant,,ENST00000548733,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,downstream_gene_variant,,ENST00000550339,;NR4A1,downstream_gene_variant,,ENST00000567890,;NR4A1,downstream_gene_variant,,ENST00000564201,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,downstream_gene_variant,,ENST00000565848,;NR4A1,downstream_gene_variant,,ENST00000478250,;	1899	36	38	SUCCESS
LGR5	8549	.	GRCh37	12	71977559	71977559	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1234259785	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	63	139	0	ENST00000266674.5:c.1769C>A	p.Ser590Tyr	p.S590Y	ENST00000266674	NM_001277226.1	590	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS9000.1	1769	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCCCCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24367:SF259,hmmpanther:PTHR24367,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000266674	.	18/18	.	.	.	.	.	.	.	.	COSM3465013	18/18	PASS	ENST00000266674	Transcript	.	.	ENSG00000139292	4504	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.968)	.	deleterious(0)	1	LGR5_HUMAN	LGR5	HGNC	.	.	UPI000004B65C	SNV	LGR5,missense_variant,p.Ser518Tyr,ENST00000536515,;LGR5,missense_variant,p.Ser590Tyr,ENST00000266674,;LGR5,missense_variant,p.Ser566Tyr,ENST00000540815,;RP11-186F10.2,non_coding_transcript_exon_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	2080	139	152	SUCCESS
LGR5	8549	.	GRCh37	12	71977560	71977560	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	62	139	0	ENST00000266674.5:c.1770C>A	p.Ser590=	p.S590=	ENST00000266674	NM_001277226.1	590	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9000.1	1770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCCCCCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24367:SF259,hmmpanther:PTHR24367,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000266674	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000266674	Transcript	.	.	ENSG00000139292	4504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR5_HUMAN	LGR5	HGNC	.	.	UPI000004B65C	SNV	LGR5,synonymous_variant,p.%3D,ENST00000536515,;LGR5,synonymous_variant,p.%3D,ENST00000266674,;LGR5,synonymous_variant,p.%3D,ENST00000540815,;RP11-186F10.2,non_coding_transcript_exon_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	2081	139	152	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85554467	85554467	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	65	0	ENST00000393217.2:c.4797G>T	p.Gln1599His	p.Q1599H	ENST00000393217	NM_001079910.1	1599	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS41816.1	4797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAGCCCAG	NONE	.	.	.	.	.	ENSP00000376910	.	24/27	.	.	.	.	.	.	.	.	COSM4045200	24/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.13)	1	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Gln20His,ENST00000526363,;LRRIQ1,missense_variant,p.Gln1599His,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000528777,;	4858	65	98	SUCCESS
AMDHD1	144193	.	GRCh37	12	96360279	96360279	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	35	0	ENST00000266736.2:c.1186T>G	p.Ser396Ala	p.S396A	ENST00000266736	NM_152435.2	396	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS9057.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATTCATCC	NONE	.	.	hmmpanther:PTHR22642,hmmpanther:PTHR22642:SF1,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR01224,Superfamily_domains:SSF51338	.	.	ENSP00000266736	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000266736	Transcript	.	.	ENSG00000139344	28577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	HUTI_HUMAN	AMDHD1	HGNC	.	.	UPI000013D70B	SNV	AMDHD1,missense_variant,p.Ser396Ala,ENST00000266736,;AMDHD1,3_prime_UTR_variant,,ENST00000548310,;	1292	35	71	SUCCESS
SACS	26278	.	GRCh37	13	23910455	23910455	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	91	0	ENST00000382292.3:c.7560A>C	p.Thr2520=	p.T2520=	ENST00000382292		2520	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9300.2	7560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGTGCC	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,synonymous_variant,p.%3D,ENST00000382292,;SACS,synonymous_variant,p.%3D,ENST00000402364,;SACS,synonymous_variant,p.%3D,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	8149	91	75	SUCCESS
PARP4	143	.	GRCh37	13	25043232	25043232	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	51	0	ENST00000381989.3:c.2063A>T	p.Glu688Val	p.E688V	ENST00000381989	NM_006437.3	688	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS9307.1	2063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTTCTTCC	NONE	.	.	PROSITE_profiles:PS51468,hmmpanther:PTHR10338:SF7,hmmpanther:PTHR10338,Pfam_domain:PF08487,SMART_domains:SM00609	.	.	ENSP00000371419	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000381989	Transcript	.	.	ENSG00000102699	271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.11)	.	PARP4_HUMAN	PARP4	HGNC	.	.	UPI000013C76E	SNV	PARP4,missense_variant,p.Glu688Val,ENST00000381989,;TPTE2P6,intron_variant,,ENST00000445572,;	2169	51	42	SUCCESS
MTUS2	23281	.	GRCh37	13	29855851	29855851	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755900595	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	153	1	ENST00000431530.3:c.2685T>A	p.Phe895Leu	p.F895L	ENST00000431530	NM_001033602.2	895	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS45022.1	2685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTTGGGAA	NONE	.	.	hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	.	.	ENSP00000392057	.	4/14	.	.	.	.	.	.	.	.	rs755900595	4/14	PASS	ENST00000431530	Transcript	.	.	ENSG00000132938	20595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	tolerated(0.1)	.	.	MTUS2	HGNC	J3KQA9_HUMAN,B4DWQ4_HUMAN	.	UPI0000F734AC	SNV	MTUS2,missense_variant,p.Phe895Leu,ENST00000431530,;MTUS2,non_coding_transcript_exon_variant,,ENST00000255289,;	2743	154	113	SUCCESS
FREM2	341640	.	GRCh37	13	39454462	39454462	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	80	0	ENST00000280481.7:c.9048A>T	p.Thr3016=	p.T3016=	ENST00000280481	NM_207361.4	3016	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31960.1	9048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACAGTGAG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	9264	80	42	SUCCESS
POTEG	404785	.	GRCh37	14	19553603	19553603	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	31	270	1	ENST00000547889.1:c.187A>T	p.Lys63Ter	p.K63*	ENST00000547889		63	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS32018.1	187	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCAAGTGG	NONE	.	.	hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118	.	.	ENSP00000386971	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,stop_gained,p.Lys63Ter,ENST00000409832,;POTEG,stop_gained,p.Lys63Ter,ENST00000552966,;POTEG,stop_gained,p.Lys63Ter,ENST00000547889,;	239	271	263	SUCCESS
POTEM	641455	.	GRCh37	14	20020034	20020034	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	T	T	A	rs773822396	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	271	27	298	0	ENST00000547848.1:c.187A>T	p.Lys63Ter	p.K63*	ENST00000547848		63	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45076.1	187	MUTECT|MUSE|VARSCANS	.	CCACTTGCCCA	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000452296	.	1/11	.	.	.	.	.	.	.	.	rs773822396	1/11	PASS	ENST00000551509	Transcript	.	.	ENSG00000187537	37096	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POTEM_HUMAN	POTEM	HGNC	.	.	UPI00006C1407	SNV	POTEM,stop_gained,p.Lys63Ter,ENST00000551509,;POTEM,stop_gained,p.Lys63Ter,ENST00000547848,;POTEM,stop_gained,p.Lys63Ter,ENST00000547722,;	239	298	299	SUCCESS
TTC5	91875	.	GRCh37	14	20760207	20760207	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	48	0	ENST00000258821.3:c.1138A>C	p.Ile380Leu	p.I380L	ENST00000258821	NM_138376.2	380	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS9546.1	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAATGAGCA	NONE	.	.	hmmpanther:PTHR26312:SF69,hmmpanther:PTHR26312	.	.	ENSP00000258821	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000258821	Transcript	.	.	ENSG00000136319	19274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.638)	.	deleterious(0.01)	.	TTC5_HUMAN	TTC5	HGNC	.	.	UPI000013D00B	SNV	TTC5,missense_variant,p.Ile325Leu,ENST00000423949,;TTC5,missense_variant,p.Ile380Leu,ENST00000258821,;TTC5,upstream_gene_variant,,ENST00000556592,;TTC5,3_prime_UTR_variant,,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;	1195	48	63	SUCCESS
TOX4	9878	.	GRCh37	14	21945395	21945395	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	79	0	ENST00000448790.2:c.-43G>A		p.*15*	ENST00000448790				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32043.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTGGGAGC	NONE	.	.	.	.	.	ENSP00000385102	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000405508	Transcript	.	.	ENSG00000092203	20161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TOX4_HUMAN	TOX4	HGNC	.	.	UPI000006EA81	SNV	TOX4,5_prime_UTR_variant,,ENST00000457430,;TOX4,5_prime_UTR_variant,,ENST00000405508,;TOX4,5_prime_UTR_variant,,ENST00000448790,;TOX4,5_prime_UTR_variant,,ENST00000262709,;TOX4,intron_variant,,ENST00000416256,;RAB2B,upstream_gene_variant,,ENST00000397762,;TOX4,non_coding_transcript_exon_variant,,ENST00000494242,;RAB2B,upstream_gene_variant,,ENST00000461909,;RAB2B,upstream_gene_variant,,ENST00000475857,;RAB2B,upstream_gene_variant,,ENST00000485996,;TOX4,5_prime_UTR_variant,,ENST00000455393,;TOX4,5_prime_UTR_variant,,ENST00000447695,;TOX4,non_coding_transcript_exon_variant,,ENST00000476180,;TOX4,upstream_gene_variant,,ENST00000455138,;RAB2B,upstream_gene_variant,,ENST00000417141,;TOX4,upstream_gene_variant,,ENST00000487242,;	234	79	125	SUCCESS
SLC10A1	6554	.	GRCh37	14	70245100	70245110	+	frameshift_variant	Frame_Shift_Del	DEL	AGCCCTTCTCC	AGCCCTTCTCC	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	AGCCCTTCTCC	AGCCCTTCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	87	0	ENST00000216540.4:c.883_893del	p.Gly295SerfsTer10	p.G295Sfs*10	ENST00000216540	NM_003049.3	295	GGAGAAGGGCTt/t	0	.	.	.	.	.	-	GEGL/X	protein_coding	YES	CCDS9797.1	883-893	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGAGAAGCCCTTCTCCAAGCT	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18	.	.	ENSP00000216540	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000216540	Transcript	.	.	ENSG00000100652	10905	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NTCP_HUMAN	SLC10A1	HGNC	Q9UK36_HUMAN	.	UPI0000130576	deletion	SLC10A1,frameshift_variant,p.Gly295SerfsTer10,ENST00000216540,;	1017-1027	87	95	SUCCESS
ADAM20	8748	.	GRCh37	14	70990228	70990228	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	43	120	0	ENST00000256389.3:c.1397A>T	p.Glu466Val	p.E466V	ENST00000256389	NM_003814.4	466	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS32111.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCAACC	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF133,Pfam_domain:PF00200,Gene3D:3.40.390.10,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000256389	.	2/2	.	.	.	.	.	.	.	.	COSM3497556	2/2	PASS	ENST00000256389	Transcript	.	.	ENSG00000134007	199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	ADA20_HUMAN	ADAM20	HGNC	.	.	UPI0000183495	SNV	ADAM20,missense_variant,p.Glu466Val,ENST00000256389,;RP11-486O13.4,intron_variant,,ENST00000556646,;	1642	120	123	SUCCESS
CLMN	79789	.	GRCh37	14	95677202	95677202	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs778122518	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	66	0	ENST00000298912.4:c.623T>A	p.Val208Glu	p.V208E	ENST00000298912	NM_024734.3	208	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS9933.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCACCGCC	NONE	byFrequency	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000298912	.	7/13	.	.	.	.	.	.	.	.	rs778122518	7/13	PASS	ENST00000298912	Transcript	.	.	ENSG00000165959	19972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLMN_HUMAN	CLMN	HGNC	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN	.	UPI000006DB99	SNV	CLMN,missense_variant,p.Val208Glu,ENST00000298912,;CLMN,downstream_gene_variant,,ENST00000555336,;CLMN,downstream_gene_variant,,ENST00000555615,;CLMN,upstream_gene_variant,,ENST00000556454,;	737	66	77	SUCCESS
AK7	122481	.	GRCh37	14	96875253	96875253	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	49	95	0	ENST00000267584.4:c.473G>A	p.Trp158Ter	p.W158*	ENST00000267584	NM_152327.3	158	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS9945.1	473	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGGGCGC	NONE	.	.	hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF71,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000267584	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000267584	Transcript	.	.	ENSG00000140057	20091	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAD7_HUMAN	AK7	HGNC	.	.	UPI00001FDB1D	SNV	AK7,stop_gained,p.Trp158Ter,ENST00000267584,;AK7,non_coding_transcript_exon_variant,,ENST00000554313,;AK7,downstream_gene_variant,,ENST00000556643,;	517	95	136	SUCCESS
FAM138E	100124412	.	GRCh37	15	102496046	102496046	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	28	95	0	ENST00000507796.3:n.618A>T		p.*206*	ENST00000507796				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTAACCCG	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000507796	Transcript	.	.	ENSG00000248893	32335	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FAM138E	HGNC	.	.	.	SNV	FAM138E,non_coding_transcript_exon_variant,,ENST00000507796,;MIR1302-11,downstream_gene_variant,,ENST00000408734,;MIR1302-11,downstream_gene_variant,,ENST00000559045,;MIR1302-11,downstream_gene_variant,,ENST00000561145,;FAM138E,downstream_gene_variant,,ENST00000559252,;	618	95	115	SUCCESS
RYR3	6263	.	GRCh37	15	34109120	34109120	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	38	85	0	ENST00000389232.4:c.10561del	p.Glu3521SerfsTer8	p.E3521Sfs*8	ENST00000389232	NM_001036.3	3520	gaG/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS45210.1	10560	INDELOCATOR*|VARSCANI*|PINDEL	.	AACAGAGGAGTA	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	75/104	.	.	.	.	.	.	.	.	.	75/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	deletion	RYR3,frameshift_variant,p.Glu3521SerfsTer8,ENST00000389232,;RYR3,frameshift_variant,p.Glu3516SerfsTer8,ENST00000415757,;RYR3,upstream_gene_variant,,ENST00000558060,;RYR3,upstream_gene_variant,,ENST00000557931,;	10630	85	141	SUCCESS
ZNF106	64397	.	GRCh37	15	42729475	42729475	+	synonymous_variant	Silent	SNP	T	T	C	rs753296872	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	21	74	0	ENST00000263805.4:c.4632A>G	p.Leu1544=	p.L1544=	ENST00000263805	NM_022473.1	1544	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS32208.1	4632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATATAGCAA	NONE	byFrequency	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR14435,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000263805	.	10/19	.	.	.	.	.	.	.	.	rs753296872	10/19	PASS	ENST00000263805	Transcript	.	.	ENSG00000103994	12886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN106_HUMAN	ZNF106	HGNC	H3BNX5_HUMAN	.	UPI000006D6CC	SNV	ZNF106,synonymous_variant,p.%3D,ENST00000565611,;ZNF106,synonymous_variant,p.%3D,ENST00000565380,;ZNF106,synonymous_variant,p.%3D,ENST00000565500,;ZNF106,synonymous_variant,p.%3D,ENST00000263805,;ZNF106,downstream_gene_variant,,ENST00000567772,;	4959	74	86	SUCCESS
SEMA6D	80031	.	GRCh37	15	48058329	48058329	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs113249348	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	12	93	0	ENST00000316364.5:c.1596T>A	p.Tyr532Ter	p.Y532*	ENST00000316364	NM_153618.1	532	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS32225.1	1596	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTATTGTGG	NONE	byCluster	.	Superfamily_domains:SSF103575,SMART_domains:SM00423,Pfam_domain:PF01437,Gene3D:3.30.1680.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	15/19	.	.	.	.	.	.	.	.	rs113249348	15/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,stop_gained,p.Tyr532Ter,ENST00000389432,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000537942,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000358066,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000354744,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000389428,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000355997,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000536845,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000389433,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000558014,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000558816,;SEMA6D,stop_gained,p.Tyr532Ter,ENST00000316364,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000389425,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,;	2035	93	114	SUCCESS
SLC12A1	6557	.	GRCh37	15	48513119	48513119	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	55	97	0	ENST00000380993.3:c.554T>A	p.Val185Glu	p.V185E	ENST00000380993	NM_000338.2	185	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS53940.1	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTAAGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	.	.	ENSP00000379822	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000396577	Transcript	1	.	ENSG00000074803	10910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	SLC12A1	HGNC	O76030_HUMAN,E9PDW4_HUMAN	.	UPI000013C794	SNV	SLC12A1,missense_variant,p.Val185Glu,ENST00000330289,;SLC12A1,missense_variant,p.Val185Glu,ENST00000380993,;SLC12A1,missense_variant,p.Val185Glu,ENST00000396577,;SLC12A1,missense_variant,p.Val185Glu,ENST00000558405,;SLC12A1,missense_variant,p.Val185Glu,ENST00000561031,;SLC12A1,splice_region_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000559723,;SLC12A1,splice_region_variant,,ENST00000561127,;SLC12A1,upstream_gene_variant,,ENST00000560692,;SLC12A1,upstream_gene_variant,,ENST00000558252,;	769	97	128	SUCCESS
FAM227B	196951	.	GRCh37	15	49882193	49882193	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	92	148	1	ENST00000299338.6:c.117A>T	p.Pro39=	p.P39=	ENST00000299338	NM_152647.2	39	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32237.1	117	RADIA|SOMATICSNIPER|VARSCANS	.	TCCCTTGGCCA	NONE	.	.	.	.	.	ENSP00000299338	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000299338	Transcript	.	.	ENSG00000166262	26543	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F227B_HUMAN	FAM227B	HGNC	H0YLX5_HUMAN	.	UPI0000D6133A	SNV	FAM227B,synonymous_variant,p.%3D,ENST00000559905,;FAM227B,synonymous_variant,p.%3D,ENST00000558594,;FAM227B,synonymous_variant,p.%3D,ENST00000561064,;FAM227B,synonymous_variant,p.%3D,ENST00000299338,;FAM227B,synonymous_variant,p.%3D,ENST00000560246,;FAM227B,upstream_gene_variant,,ENST00000558579,;FAM227B,non_coding_transcript_exon_variant,,ENST00000558862,;FAM227B,non_coding_transcript_exon_variant,,ENST00000561319,;FAM227B,non_coding_transcript_exon_variant,,ENST00000558615,;FAM227B,intron_variant,,ENST00000561116,;	421	149	215	SUCCESS
IGDCC3	9543	.	GRCh37	15	65621468	65621468	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149849455	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	57	0	ENST00000327987.4:c.2224G>A	p.Ala742Thr	p.A742T	ENST00000327987	NM_004884.3	742	Gct/Act	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS10205.1	2224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGCGGGGG	NONE	byCluster	.	.	.	T:0.0001	ENSP00000332773	.	14/14	.	.	.	.	.	.	.	.	rs149849455	14/14	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.43)	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,missense_variant,p.Ala742Thr,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	2476	57	63	SUCCESS
EDC3	80153	.	GRCh37	15	74925259	74925259	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	63	0	ENST00000315127.4:c.1221C>T	p.Val407=	p.V407=	ENST00000315127	NM_025083.3	407	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10267.1	1221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGACCAG	NONE	.	.	PROSITE_profiles:PS51385,hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612,Pfam_domain:PF03853,Gene3D:3.40.50.10260,Superfamily_domains:SSF64153	.	.	ENSP00000320503	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000315127	Transcript	.	.	ENSG00000179151	26114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDC3_HUMAN	EDC3	HGNC	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN	.	UPI000007309A	SNV	EDC3,synonymous_variant,p.%3D,ENST00000315127,;EDC3,synonymous_variant,p.%3D,ENST00000569606,;EDC3,synonymous_variant,p.%3D,ENST00000568176,;EDC3,synonymous_variant,p.%3D,ENST00000426797,;CLK3,intron_variant,,ENST00000563418,;CLK3,downstream_gene_variant,,ENST00000566926,;EDC3,downstream_gene_variant,,ENST00000562174,;CLK3,downstream_gene_variant,,ENST00000352989,;EDC3,downstream_gene_variant,,ENST00000566219,;CLK3,downstream_gene_variant,,ENST00000563842,;CLK3,downstream_gene_variant,,ENST00000395066,;CLK3,downstream_gene_variant,,ENST00000348245,;CLK3,downstream_gene_variant,,ENST00000345005,;CLK3,intron_variant,,ENST00000561673,;CLK3,downstream_gene_variant,,ENST00000567805,;EDC3,3_prime_UTR_variant,,ENST00000565602,;CLK3,downstream_gene_variant,,ENST00000562078,;CLK3,downstream_gene_variant,,ENST00000562626,;CLK3,downstream_gene_variant,,ENST00000454830,;CLK3,downstream_gene_variant,,ENST00000569406,;CLK3,downstream_gene_variant,,ENST00000568232,;CLK3,downstream_gene_variant,,ENST00000483723,;CLK3,downstream_gene_variant,,ENST00000564468,;	1403	63	79	SUCCESS
MAN2C1	4123	.	GRCh37	15	75659938	75659938	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	55	1	ENST00000267978.5:c.265C>G	p.Pro89Ala	p.P89A	ENST00000267978	NM_006715.3	89	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS58391.1	265	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGGATGG	NONE	.	.	hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607	.	.	ENSP00000457788	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000565683	Transcript	.	.	ENSG00000140400	6827	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MA2C1_HUMAN	MAN2C1	HGNC	H3BRV3_HUMAN	.	UPI0000229CBC	SNV	MAN2C1,missense_variant,p.Pro76Ala,ENST00000566256,;MAN2C1,missense_variant,p.Pro47Ala,ENST00000568374,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000565683,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000561615,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000563622,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000267978,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000569482,;SIN3A,downstream_gene_variant,,ENST00000394949,;SIN3A,downstream_gene_variant,,ENST00000394947,;SIN3A,downstream_gene_variant,,ENST00000360439,;RP11-817O13.8,upstream_gene_variant,,ENST00000563278,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563539,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000421803,;MAN2C1,missense_variant,p.Pro89Ala,ENST00000569355,;MAN2C1,3_prime_UTR_variant,,ENST00000562071,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000569069,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565534,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565652,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,intron_variant,,ENST00000565784,;MAN2C1,intron_variant,,ENST00000566634,;MAN2C1,upstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000568944,;MAN2C1,upstream_gene_variant,,ENST00000565801,;SIN3A,downstream_gene_variant,,ENST00000566640,;MAN2C1,upstream_gene_variant,,ENST00000564785,;MAN2C1,upstream_gene_variant,,ENST00000570257,;	277	56	61	SUCCESS
ACAN	176	.	GRCh37	15	89402447	89402447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs533925391	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	105	0	ENST00000439576.2:c.6631G>A	p.Val2211Ile	p.V2211I	ENST00000439576	NM_013227.3	2211	Gtt/Att	0	.	A:0.0008	.	A:0	.	A	V/I	protein_coding	YES	CCDS53970.1	6631	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGTTGTC	NONE	by1000G	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	A:0	.	ENSP00000387356	A:0	12/18	.	.	.	.	.	.	.	.	rs533925391	12/18	PASS	ENST00000439576	Transcript	1	A:0.0002	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	A:0	tolerated(0.49)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Val48Ile,ENST00000560601,;ACAN,missense_variant,p.Val2211Ile,ENST00000559004,;ACAN,missense_variant,p.Val2211Ile,ENST00000439576,;ACAN,missense_variant,p.Val2211Ile,ENST00000561243,;ACAN,missense_variant,p.Val2211Ile,ENST00000352105,;	7005	105	123	SUCCESS
FURIN	5045	.	GRCh37	15	91424605	91424605	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749641930	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	61	0	ENST00000268171.3:c.1882A>G	p.Ser628Gly	p.S628G	ENST00000268171	NM_002569.2	628	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS10364.1	1882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATAGCACC	NONE	.	.	Superfamily_domains:SSF57184,Gene3D:2.10.220.10,hmmpanther:PTHR10795:SF325,hmmpanther:PTHR10795	.	.	ENSP00000268171	.	16/16	.	.	.	.	.	.	.	.	rs749641930	16/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,missense_variant,p.Ser628Gly,ENST00000268171,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000559355,;FES,upstream_gene_variant,,ENST00000450438,;FES,upstream_gene_variant,,ENST00000394300,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000328850,;FES,upstream_gene_variant,,ENST00000444422,;FURIN,downstream_gene_variant,,ENST00000560018,;FURIN,downstream_gene_variant,,ENST00000558794,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	2161	61	67	SUCCESS
MKL2	0	.	GRCh37	16	14304134	14304134	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	37	85	0	ENST00000318282.5:c.189A>G	p.Arg63=	p.R63=	ENST00000318282		63	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS32391.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGAGAACA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51073,hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793,Pfam_domain:PF02755,SMART_domains:SM00707	.	.	ENSP00000339086	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000318282	Transcript	.	.	ENSG00000186260	29819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKL2_HUMAN	MKL2	HGNC	I3L0U1_HUMAN	.	UPI0000225CCB	SNV	MKL2,synonymous_variant,p.%3D,ENST00000572567,;MKL2,synonymous_variant,p.%3D,ENST00000318282,;MKL2,synonymous_variant,p.%3D,ENST00000341243,;MKL2,synonymous_variant,p.%3D,ENST00000571589,;MKL2,synonymous_variant,p.%3D,ENST00000574045,;MKL2,synonymous_variant,p.%3D,ENST00000573051,;MKL2,synonymous_variant,p.%3D,ENST00000574998,;MKL2,non_coding_transcript_exon_variant,,ENST00000575768,;	319	85	81	SUCCESS
DNAH3	55567	.	GRCh37	16	21071601	21071601	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750629856	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	115	0	ENST00000261383.3:c.3797T>A	p.Ile1266Asn	p.I1266N	ENST00000261383	NM_017539.1	1266	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS10594.1	3797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAATCCCA	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	26/62	.	.	.	.	.	.	.	.	rs750629856	26/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.12)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.Ile1266Asn,ENST00000261383,;DNAH3,missense_variant,p.Ile1266Asn,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;	3797	115	58	SUCCESS
HS3ST4	9951	.	GRCh37	16	26147301	26147301	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	66	115	0	ENST00000331351.5:c.1103T>A	p.Met368Lys	p.M368K	ENST00000331351	NM_006040.2	368	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS53995.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAATGGCCA	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000330606	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331351	Transcript	.	.	ENSG00000182601	5200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	HS3S4_HUMAN	HS3ST4	HGNC	A5H458_HUMAN	.	UPI000040938A	SNV	HS3ST4,missense_variant,p.Met368Lys,ENST00000331351,;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;	1495	115	127	SUCCESS
ZNF768	79724	.	GRCh37	16	30536792	30536792	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	39	0	ENST00000380412.5:c.669G>A	p.Leu223=	p.L223=	ENST00000380412	NM_024671.3	223	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10681.2	669	MUTECT|VARSCANS	.	GACAGCAGGGC	NONE	.	.	hmmpanther:PTHR24402:SF208,hmmpanther:PTHR24402	.	.	ENSP00000369777	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380412	Transcript	.	.	ENSG00000169957	26273	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN768_HUMAN	ZNF768	HGNC	H3BS42_HUMAN	.	UPI00001FFEED	SNV	ZNF768,synonymous_variant,p.%3D,ENST00000562803,;ZNF768,synonymous_variant,p.%3D,ENST00000380412,;ZNF747,downstream_gene_variant,,ENST00000395094,;ZNF747,downstream_gene_variant,,ENST00000535210,;ZNF747,downstream_gene_variant,,ENST00000252799,;ITGAL,downstream_gene_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000358164,;ITGAL,downstream_gene_variant,,ENST00000356798,;ZNF747,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	845	39	47	SUCCESS
SEPT12	0	.	GRCh37	16	4827877	4827877	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	53	118	0	ENST00000268231.8:c.998C>G	p.Ala333Gly	p.A333G	ENST00000268231	NM_144605.4	333	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS10522.1	998	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGCCGGG	NONE	.	.	PIRSF_domain:PIRSF006698,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF66	.	.	ENSP00000268231	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000268231	Transcript	.	.	ENSG00000140623	26348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.02)	.	SEP12_HUMAN	SEPT12	HGNC	K7EP92_HUMAN	.	UPI000007422A	SNV	SEPT12,missense_variant,p.Ala333Gly,ENST00000268231,;SEPT12,missense_variant,p.Ala287Gly,ENST00000396693,;SEPT12,3_prime_UTR_variant,,ENST00000587603,;SEPT12,3_prime_UTR_variant,,ENST00000588241,;	1262	118	106	SUCCESS
MT1E	4493	.	GRCh37	16	56660821	56660821	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	41	0	ENST00000306061.6:c.124G>T	p.Ala42Ser	p.A42S	ENST00000306061	NM_175617.3	42	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS10764.2	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGCCAAG	NONE	.	.	Prints_domain:PR00860,Superfamily_domains:SSF57868,Gene3D:4mt2A00,Pfam_domain:PF00131,hmmpanther:PTHR23299,Low_complexity_(Seg):seg	.	.	ENSP00000307706	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000306061	Transcript	.	.	ENSG00000169715	7397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	tolerated(0.13)	.	MT1E_HUMAN	MT1E	HGNC	.	.	UPI000012F6D6	SNV	MT1E,missense_variant,p.Ala42Ser,ENST00000306061,;MT1E,missense_variant,p.Ala20Ser,ENST00000568293,;MT1E,3_prime_UTR_variant,,ENST00000330439,;AC026461.1,downstream_gene_variant,,ENST00000600389,;	501	41	37	SUCCESS
KCNG4	93107	.	GRCh37	16	84270675	84270675	+	synonymous_variant	Silent	SNP	G	G	A	rs766598106	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	58	1	ENST00000308251.4:c.417C>T	p.Cys139=	p.C139=	ENST00000308251	NM_172347.2	139	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS10945.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGCACAT	SITE|p.C139C|c.417C>T|3	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF89,Pfam_domain:PF02214,Gene3D:3.30.710.10,Superfamily_domains:SSF54695,Prints_domain:PR01494	.	.	ENSP00000312129	.	2/3	.	.	.	.	.	.	.	.	rs766598106,COSM197229	2/3	PASS	ENST00000308251	Transcript	.	.	ENSG00000168418	19697	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNG4_HUMAN	KCNG4	HGNC	Q547S7_HUMAN	.	UPI00000557D8	SNV	KCNG4,synonymous_variant,p.%3D,ENST00000568181,;KCNG4,synonymous_variant,p.%3D,ENST00000308251,;	486	59	63	SUCCESS
KIAA0513	9764	.	GRCh37	16	85114999	85114999	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	56	0	ENST00000258180.3:c.980+1G>A		p.X327_splice	ENST00000258180	NM_014732.2	327		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGTAGGA	NONE	.	.	.	.	.	ENSP00000457408	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000566428	Transcript	.	.	ENSG00000135709	29058	.	.	HIGH	9/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0513_HUMAN	KIAA0513	HGNC	.	.	UPI0000139A26	SNV	KIAA0513,splice_donor_variant,,ENST00000258180,;KIAA0513,splice_donor_variant,,ENST00000538274,;KIAA0513,splice_donor_variant,,ENST00000566428,;KIAA0513,splice_donor_variant,,ENST00000562580,;KIAA0513,intron_variant,,ENST00000562564,;KIAA0513,downstream_gene_variant,,ENST00000567328,;	.	56	68	SUCCESS
ALKBH5	54890	.	GRCh37	17	18088100	18088100	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	44	0	ENST00000399138.4:c.543C>T	p.Val181=	p.V181=	ENST00000399138	NM_017758.3	181	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS42272.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTCATCCC	NONE	.	.	hmmpanther:PTHR32074:SF2,hmmpanther:PTHR32074,Pfam_domain:PF13532,Gene3D:3i3qA00,Superfamily_domains:SSF51197	.	.	ENSP00000382091	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000399138	Transcript	.	.	ENSG00000091542	25996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALKB5_HUMAN	ALKBH5	HGNC	K7ER58_HUMAN	.	UPI0000200AE2	SNV	ALKBH5,synonymous_variant,p.%3D,ENST00000399138,;ALKBH5,intron_variant,,ENST00000541285,;MYO15A,downstream_gene_variant,,ENST00000205890,;RP11-258F1.1,upstream_gene_variant,,ENST00000583062,;RP11-258F1.1,upstream_gene_variant,,ENST00000577847,;MYO15A,downstream_gene_variant,,ENST00000433411,;	548	44	73	SUCCESS
CCDC144CP	348254	.	GRCh37	17	20224847	20224847	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	49	123	0	ENST00000433419.2:n.218A>T		p.*73*	ENST00000433419				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCAGCACG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000580225	Transcript	.	.	ENSG00000263494	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC004702.2	Clone_based_vega_gene	.	.	.	SNV	SPECC1,downstream_gene_variant,,ENST00000395530,;AC004702.2,intron_variant,,ENST00000580225,;U6,upstream_gene_variant,,ENST00000517027,;U6,upstream_gene_variant,,ENST00000580993,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000340196,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000425519,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000433419,;	.	123	132	SUCCESS
TMEM132E	124842	.	GRCh37	17	32964875	32964875	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	27	0	ENST00000321639.5:c.2579T>A	p.Leu860Gln	p.L860Q	ENST00000321639	NM_207313.1	860	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11283.1	2579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTGTCGC	NONE	.	.	hmmpanther:PTHR13388:SF7,hmmpanther:PTHR13388	.	.	ENSP00000316532	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000321639	Transcript	.	.	ENSG00000181291	26991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	T132E_HUMAN	TMEM132E	HGNC	.	.	UPI000035960F	SNV	TMEM132E,missense_variant,p.Leu860Gln,ENST00000321639,;TMEM132E,downstream_gene_variant,,ENST00000577271,;	2907	27	31	SUCCESS
GGNBP2	79893	.	GRCh37	17	34945649	34945649	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	57	1	ENST00000304718.4:c.1902A>G	p.Glu634=	p.E634=	ENST00000304718	NM_024835.4	634	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS11314.1	1902	MUTECT|MUSE	.	TCTGAATGTAC	NONE	.	.	hmmpanther:PTHR13601	.	.	ENSP00000307617	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000304718	Transcript	.	.	ENSG00000005955	19357	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GGNB2_HUMAN	GGNBP2	HGNC	K7ELA8_HUMAN,B4DWN7_HUMAN	.	UPI00000728CB	SNV	GGNBP2,synonymous_variant,p.%3D,ENST00000304718,;DHRS11,upstream_gene_variant,,ENST00000590554,;DHRS11,upstream_gene_variant,,ENST00000251312,;GGNBP2,downstream_gene_variant,,ENST00000588222,;DHRS11,upstream_gene_variant,,ENST00000394445,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000589269,;DHRS11,upstream_gene_variant,,ENST00000590527,;GGNBP2,downstream_gene_variant,,ENST00000586045,;GGNBP2,downstream_gene_variant,,ENST00000495023,;GGNBP2,downstream_gene_variant,,ENST00000483256,;	2218	58	72	SUCCESS
KRT27	342574	.	GRCh37	17	38937443	38937443	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	86	0	ENST00000301656.3:c.524T>A	p.Leu175Gln	p.L175Q	ENST00000301656	NM_181537.3	175	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11375.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTAGTCTG	NONE	.	.	hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF90257,Prints_domain:PR01248	.	.	ENSP00000301656	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000301656	Transcript	.	.	ENSG00000171446	30841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0.01)	.	K1C27_HUMAN	KRT27	HGNC	.	.	UPI0000200C91	SNV	KRT27,missense_variant,p.Leu175Gln,ENST00000301656,;KRT27,upstream_gene_variant,,ENST00000540723,;	565	86	94	SUCCESS
KCNJ16	3773	.	GRCh37	17	68128987	68128987	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	57	0	ENST00000283936.1:c.759T>A	p.Ile253=	p.I253=	ENST00000283936	NM_018658.2	253	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11687.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATTGTCCA	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF24,Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000376438	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392670	Transcript	.	.	ENSG00000153822	6262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK16_HUMAN	KCNJ16	HGNC	K7ELL5_HUMAN,K7EKJ4_HUMAN	.	UPI000012D8B3	SNV	KCNJ16,synonymous_variant,p.%3D,ENST00000283936,;KCNJ16,synonymous_variant,p.%3D,ENST00000589377,;KCNJ16,synonymous_variant,p.%3D,ENST00000392671,;KCNJ16,synonymous_variant,p.%3D,ENST00000586462,;KCNJ16,synonymous_variant,p.%3D,ENST00000585558,;KCNJ16,synonymous_variant,p.%3D,ENST00000392670,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000591891,;KCNJ16,downstream_gene_variant,,ENST00000587892,;AC002539.1,upstream_gene_variant,,ENST00000435112,;	1252	57	76	SUCCESS
SLC16A11	162515	.	GRCh37	17	6945968	6945968	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	28	0	ENST00000308009.1:c.533T>C	p.Leu178Pro	p.L178P	ENST00000308009	NM_153357.1	178	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS11086.1	533	RADIA|SOMATICSNIPER|MUSE	.	GGAGCAGCGAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF80,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000310490	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000308009	Transcript	.	.	ENSG00000174326	23093	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	MOT11_HUMAN	SLC16A11	HGNC	I3L431_HUMAN	.	UPI000006F985	SNV	SLC16A11,missense_variant,p.Leu178Pro,ENST00000308009,;SLC16A11,missense_variant,p.Leu154Pro,ENST00000447225,;SLC16A11,downstream_gene_variant,,ENST00000574600,;SLC16A13,downstream_gene_variant,,ENST00000308027,;SLC16A11,intron_variant,,ENST00000573338,;	871	28	14	SUCCESS
FHOD3	80206	.	GRCh37	18	34273025	34273025	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	25	0	ENST00000359247.4:c.1446-147T>A		p.*482*	ENST00000359247	NM_001281739.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32816.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTTTTGGC	NONE	.	.	.	.	.	ENSP00000257209	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	MODIFIER	13/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,intron_variant,,ENST00000591635,;FHOD3,intron_variant,,ENST00000590592,;FHOD3,intron_variant,,ENST00000445677,;FHOD3,intron_variant,,ENST00000257209,;FHOD3,intron_variant,,ENST00000592930,;FHOD3,intron_variant,,ENST00000359247,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;FHOD3,intron_variant,,ENST00000589114,;	.	25	28	SUCCESS
DYNAP	284254	.	GRCh37	18	52262216	52262216	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	49	86	0	ENST00000321600.1:c.182G>A	p.Trp61Ter	p.W61*	ENST00000321600	NM_173629.1	61	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS11957.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGGTGTC	NONE	.	.	.	.	.	ENSP00000315265	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000321600	Transcript	.	.	ENSG00000178690	26808	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYNAP_HUMAN	DYNAP	HGNC	.	.	UPI000006F69E	SNV	DYNAP,stop_gained,p.Trp61Ter,ENST00000321600,;DYNAP,intron_variant,,ENST00000585973,;	228	86	85	SUCCESS
VPS4B	9525	.	GRCh37	18	61089526	61089526	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	53	0	ENST00000238497.5:c.-34C>A		p.*12*	ENST00000238497	NM_004869.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11983.1	.	RADIA|VARSCANS	.	AACGAGGGGCG	NONE	.	.	.	.	.	ENSP00000238497	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000238497	Transcript	.	.	ENSG00000119541	10895	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VPS4B_HUMAN	VPS4B	HGNC	.	.	UPI0000073CAF	SNV	VPS4B,5_prime_UTR_variant,,ENST00000591519,;VPS4B,5_prime_UTR_variant,,ENST00000238497,;VPS4B,5_prime_UTR_variant,,ENST00000588059,;VPS4B,non_coding_transcript_exon_variant,,ENST00000589604,;VPS4B,non_coding_transcript_exon_variant,,ENST00000591475,;	171	53	39	SUCCESS
LAMA1	284217	.	GRCh37	18	6978215	6978215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	68	0	ENST00000389658.3:c.6170T>A	p.Leu2057Gln	p.L2057Q	ENST00000389658	NM_005559.3	2057	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32787.1	6170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGAAGC	NONE	.	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Pfam_domain:PF06009	.	.	ENSP00000374309	.	43/63	.	.	.	.	.	.	.	.	.	43/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0.01)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Leu2057Gln,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	6264	68	60	SUCCESS
ZNF486	90649	.	GRCh37	19	20307961	20307961	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	88	166	0	ENST00000335117.8:c.442A>T	p.Thr148Ser	p.T148S	ENST00000335117	NM_052852.3	148	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS46029.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAACTACC	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95	.	.	ENSP00000335042	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335117	Transcript	.	.	ENSG00000256229	20807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.05)	.	ZN486_HUMAN	ZNF486	HGNC	Q59FB0_HUMAN	.	UPI00002376E8	SNV	ZNF486,missense_variant,p.Thr148Ser,ENST00000335117,;CTC-260E6.6,intron_variant,,ENST00000586657,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000585498,;	499	166	237	SUCCESS
ZNF568	374900	.	GRCh37	19	37440867	37440867	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	48	76	0	ENST00000333987.7:c.812T>A	p.Ile271Asn	p.I271N	ENST00000333987	NM_001204835.1	271	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS42558.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATTCATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF147,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000334685	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333987	Transcript	.	.	ENSG00000198453	25392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN568_HUMAN	ZNF568	HGNC	A2VDJ6_HUMAN	.	UPI000059D700	SNV	ZNF568,missense_variant,p.Ile207Asn,ENST00000415168,;ZNF568,missense_variant,p.Ile271Asn,ENST00000333987,;ZNF568,missense_variant,p.Ile207Asn,ENST00000587857,;ZNF568,intron_variant,,ENST00000455427,;ZNF568,intron_variant,,ENST00000444991,;ZNF568,intron_variant,,ENST00000427117,;	1318	76	110	SUCCESS
MATK	4145	.	GRCh37	19	3784140	3784140	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	31	0	ENST00000310132.6:c.344C>T	p.Pro115Leu	p.P115L	ENST00000310132	NM_139355.2	115	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12113.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGGGTCT	NONE	.	.	hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Superfamily_domains:SSF50044	.	.	ENSP00000378485	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	tolerated(0.1)	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,missense_variant,p.Pro115Leu,ENST00000585778,;MATK,missense_variant,p.Pro116Leu,ENST00000395045,;MATK,missense_variant,p.Pro74Leu,ENST00000395040,;MATK,missense_variant,p.Pro74Leu,ENST00000590849,;MATK,missense_variant,p.Pro115Leu,ENST00000310132,;MATK,missense_variant,p.Pro115Leu,ENST00000590028,;MATK,missense_variant,p.Pro4Leu,ENST00000590493,;MATK,5_prime_UTR_variant,,ENST00000587180,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590821,;	685	31	39	SUCCESS
PLD3	23646	.	GRCh37	19	40877640	40877640	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	68	0	ENST00000356508.5:c.739A>T	p.Ile247Phe	p.I247F	ENST00000356508	NM_001031696.2	247	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS33027.1	739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGATCTTT	NONE	.	.	hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16,Gene3D:3.30.870.10,Pfam_domain:PF13918,Superfamily_domains:SSF56024	.	.	ENSP00000387050	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000409587	Transcript	.	.	ENSG00000105223	17158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	PLD3_HUMAN	PLD3	HGNC	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN	.	UPI000004FA75	SNV	PLD3,missense_variant,p.Ile247Phe,ENST00000409419,;PLD3,missense_variant,p.Ile247Phe,ENST00000409587,;PLD3,missense_variant,p.Ile247Phe,ENST00000409735,;PLD3,missense_variant,p.Ile247Phe,ENST00000409281,;PLD3,missense_variant,p.Ile247Phe,ENST00000356508,;PLD3,downstream_gene_variant,,ENST00000594908,;PLD3,downstream_gene_variant,,ENST00000602131,;PLD3,downstream_gene_variant,,ENST00000599353,;PLD3,upstream_gene_variant,,ENST00000596470,;PLD3,downstream_gene_variant,,ENST00000359274,;PLD3,downstream_gene_variant,,ENST00000599685,;PLD3,downstream_gene_variant,,ENST00000392032,;PLD3,downstream_gene_variant,,ENST00000600948,;PLD3,downstream_gene_variant,,ENST00000596682,;PLD3,3_prime_UTR_variant,,ENST00000492243,;PLD3,non_coding_transcript_exon_variant,,ENST00000475983,;PLD3,downstream_gene_variant,,ENST00000493006,;PLD3,downstream_gene_variant,,ENST00000485448,;PLD3,downstream_gene_variant,,ENST00000480030,;PLD3,upstream_gene_variant,,ENST00000488311,;	1136	68	77	SUCCESS
PRKD2	25865	.	GRCh37	19	47181845	47181845	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	6	49	0	ENST00000291281.4:c.2146G>A	p.Ala716Thr	p.A716T	ENST00000291281		716	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12689.1	2146	MUTECT|MUSE	.	GTAGGCCGGCG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000552,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22968,PROSITE_profiles:PS50011	.	.	ENSP00000393978	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,missense_variant,p.Ala716Thr,ENST00000595515,;PRKD2,missense_variant,p.Ala559Thr,ENST00000600194,;PRKD2,missense_variant,p.Ala559Thr,ENST00000601806,;PRKD2,missense_variant,p.Ala716Thr,ENST00000433867,;PRKD2,missense_variant,p.Ala716Thr,ENST00000291281,;DACT3-AS1,downstream_gene_variant,,ENST00000525008,;DACT3-AS1,downstream_gene_variant,,ENST00000525352,;PRKD2,non_coding_transcript_exon_variant,,ENST00000593492,;PRKD2,3_prime_UTR_variant,,ENST00000597390,;PRKD2,non_coding_transcript_exon_variant,,ENST00000602155,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;PRKD2,downstream_gene_variant,,ENST00000599464,;	2624	49	69	SUCCESS
LIG1	3978	.	GRCh37	19	48643272	48643272	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1346300537	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	49	0	ENST00000263274.7:c.1043G>T	p.Gly348Val	p.G348V	ENST00000263274	NM_000234.1	348	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12711.1	1043	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCCAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10459:SF10,hmmpanther:PTHR10459,Gene3D:1x9nA01,Pfam_domain:PF04675,TIGRFAM_domain:TIGR00574,Superfamily_domains:0050884	.	.	ENSP00000263274	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000263274	Transcript	.	.	ENSG00000105486	6598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DNLI1_HUMAN	LIG1	HGNC	Q76GR4_HUMAN,M0R1S4_HUMAN,M0QY71_HUMAN	.	UPI0000129656	SNV	LIG1,missense_variant,p.Gly280Val,ENST00000536218,;LIG1,missense_variant,p.Gly317Val,ENST00000427526,;LIG1,missense_variant,p.Gly348Val,ENST00000263274,;LIG1,missense_variant,p.Gly316Val,ENST00000542460,;LIG1,missense_variant,p.Gly347Val,ENST00000594759,;LIG1,missense_variant,p.Gly348Val,ENST00000601091,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;LIG1,upstream_gene_variant,,ENST00000597901,;LIG1,upstream_gene_variant,,ENST00000596672,;	1463	49	76	SUCCESS
LIG1	3978	.	GRCh37	19	48643273	48643273	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	22	50	0	ENST00000263274.7:c.1042G>T	p.Gly348Cys	p.G348C	ENST00000263274	NM_000234.1	348	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS12711.1	1042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCCAAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10459:SF10,hmmpanther:PTHR10459,Gene3D:1x9nA01,Pfam_domain:PF04675,TIGRFAM_domain:TIGR00574,Superfamily_domains:0050884	.	.	ENSP00000263274	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000263274	Transcript	.	.	ENSG00000105486	6598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DNLI1_HUMAN	LIG1	HGNC	Q76GR4_HUMAN,M0R1S4_HUMAN,M0QY71_HUMAN	.	UPI0000129656	SNV	LIG1,missense_variant,p.Gly280Cys,ENST00000536218,;LIG1,missense_variant,p.Gly317Cys,ENST00000427526,;LIG1,missense_variant,p.Gly348Cys,ENST00000263274,;LIG1,missense_variant,p.Gly316Cys,ENST00000542460,;LIG1,missense_variant,p.Gly347Cys,ENST00000594759,;LIG1,missense_variant,p.Gly348Cys,ENST00000601091,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;LIG1,upstream_gene_variant,,ENST00000597901,;LIG1,upstream_gene_variant,,ENST00000596672,;	1462	50	76	SUCCESS
ASPDH	554235	.	GRCh37	19	51015948	51015948	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	71	0	ENST00000389208.4:c.402C>T	p.Ile134=	p.I134=	ENST00000389208	NM_001114598.1	134	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS46153.1	402	MUTECT|MUSE|VARSCANS	.	CTCCTGATGTC	NONE	.	.	Superfamily_domains:SSF55347,Superfamily_domains:SSF51735,PIRSF_domain:PIRSF005227,Gene3D:3.40.50.720,hmmpanther:PTHR31873:SF2,hmmpanther:PTHR31873	.	.	ENSP00000373860	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000389208	Transcript	.	.	ENSG00000204653	33856	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASPD_HUMAN	ASPDH	HGNC	M0QZ80_HUMAN	.	UPI00015B3C66	SNV	ASPDH,synonymous_variant,p.%3D,ENST00000389208,;ASPDH,intron_variant,,ENST00000601207,;ASPDH,intron_variant,,ENST00000376916,;LRRC4B,downstream_gene_variant,,ENST00000599957,;JOSD2,upstream_gene_variant,,ENST00000595669,;LRRC4B,downstream_gene_variant,,ENST00000389201,;JOSD2,upstream_gene_variant,,ENST00000598418,;JOSD2,upstream_gene_variant,,ENST00000391815,;ASPDH,downstream_gene_variant,,ENST00000598657,;JOSD2,upstream_gene_variant,,ENST00000594350,;JOSD2,upstream_gene_variant,,ENST00000601423,;ASPDH,intron_variant,,ENST00000597030,;ASPDH,non_coding_transcript_exon_variant,,ENST00000593569,;ASPDH,intron_variant,,ENST00000601287,;JOSD2,upstream_gene_variant,,ENST00000595718,;JOSD2,upstream_gene_variant,,ENST00000602146,;ASPDH,upstream_gene_variant,,ENST00000597232,;	464	72	76	SUCCESS
C19orf48	84798	.	GRCh37	19	51301354	51301354	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	21	31	0	ENST00000345523.4:c.352del	p.Ter118GlufsTer35	p.*118Efs*35	ENST00000345523	NM_199250.1	118	Tga/ga	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS12803.1	352	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCTCAAACCA	NONE	.	.	.	.	.	ENSP00000471463	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000598463	Transcript	.	.	ENSG00000167747	29667	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CS048_HUMAN	C19orf48	HGNC	M0R3D1_HUMAN,M0R1Y9_HUMAN,M0R1J5_HUMAN,M0QZC8_HUMAN,M0QXL0_HUMAN	.	UPI000006ECB0	deletion	C19orf48,frameshift_variant,p.Ter118Glu,ENST00000345523,;C19orf48,frameshift_variant,p.Ter118Glu,ENST00000391812,;C19orf48,frameshift_variant,p.Ter118Glu,ENST00000596655,;C19orf48,frameshift_variant,p.Ter118Glu,ENST00000598463,;C19orf48,downstream_gene_variant,,ENST00000601267,;ACPT,downstream_gene_variant,,ENST00000270594,;C19orf48,downstream_gene_variant,,ENST00000596287,;C19orf48,downstream_gene_variant,,ENST00000597705,;C19orf48,downstream_gene_variant,,ENST00000600373,;C19orf48,downstream_gene_variant,,ENST00000597493,;C19orf48,downstream_gene_variant,,ENST00000593287,;ACPT,downstream_gene_variant,,ENST00000270593,;SNORD88A,downstream_gene_variant,,ENST00000408314,;SNORD88C,downstream_gene_variant,,ENST00000408061,;SNORD88B,downstream_gene_variant,,ENST00000408454,;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000596554,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000602125,;	1451	31	65	SUCCESS
KDM4B	23030	.	GRCh37	19	5144869	5144869	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	45	85	0	ENST00000159111.4:c.2977T>A	p.Tyr993Asn	p.Y993N	ENST00000159111	NM_015015.2	993	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS12138.1	2977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTACAAG	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30,SMART_domains:SM00333,Superfamily_domains:SSF63748	.	.	ENSP00000159111	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000159111	Transcript	.	.	ENSG00000127663	29136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	.	.	KDM4B_HUMAN	KDM4B	HGNC	K7ES23_HUMAN	.	UPI00001C202B	SNV	KDM4B,missense_variant,p.Tyr1027Asn,ENST00000536461,;KDM4B,missense_variant,p.Tyr993Asn,ENST00000159111,;KDM4B,downstream_gene_variant,,ENST00000588361,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	3195	85	118	SUCCESS
ZNF331	55422	.	GRCh37	19	54074888	54074888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	68	1	ENST00000253144.9:c.40G>A	p.Asp14Asn	p.D14N	ENST00000253144	NM_018555.5	14	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33102.1	40	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATAGACTTT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000253144	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000253144	Transcript	.	.	ENSG00000130844	15489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.09)	.	ZN331_HUMAN	ZNF331	HGNC	Q8NBU2_HUMAN,Q71QC9_HUMAN,Q71QC6_HUMAN,Q71QC5_HUMAN,Q71QC3_HUMAN,Q6PK05_HUMAN,E7EWU7_HUMAN,E7EV14_HUMAN,E7ETJ5_HUMAN,E7ERM8_HUMAN,E7EPT0_HUMAN,E7EPG5_HUMAN,E7ENR0_HUMAN,D6RH27_HUMAN	.	UPI0000039DC3	SNV	ZNF331,missense_variant,p.Asp14Asn,ENST00000502616,;ZNF331,missense_variant,p.Asp14Asn,ENST00000505949,;ZNF331,missense_variant,p.Asp14Asn,ENST00000514374,;ZNF331,missense_variant,p.Asp14Asn,ENST00000502248,;ZNF331,missense_variant,p.Asp14Asn,ENST00000511567,;ZNF331,missense_variant,p.Asp14Asn,ENST00000512387,;ZNF331,missense_variant,p.Asp14Asn,ENST00000511593,;ZNF331,missense_variant,p.Asp14Asn,ENST00000411977,;ZNF331,missense_variant,p.Asp14Asn,ENST00000509585,;ZNF331,missense_variant,p.Asp14Asn,ENST00000509047,;ZNF331,missense_variant,p.Asp14Asn,ENST00000505426,;ZNF331,missense_variant,p.Asp14Asn,ENST00000449416,;ZNF331,missense_variant,p.Asp14Asn,ENST00000513999,;ZNF331,missense_variant,p.Asp14Asn,ENST00000514022,;ZNF331,missense_variant,p.Asp14Asn,ENST00000504493,;ZNF331,missense_variant,p.Asp14Asn,ENST00000511154,;ZNF331,missense_variant,p.Asp14Asn,ENST00000253144,;ZNF331,missense_variant,p.Asp14Asn,ENST00000513265,;	1373	69	89	SUCCESS
MIR518E	574487	.	GRCh37	19	54233100	54233100	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	67	126	0	ENST00000385252.1:n.9T>A		p.*3*	ENST00000385252				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGTGAC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385252	Transcript	.	.	ENSG00000207987	32119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR518E	HGNC	.	.	.	SNV	MIR518E,non_coding_transcript_exon_variant,,ENST00000385252,;MIR518A1,upstream_gene_variant,,ENST00000385068,;RNU6-980P,downstream_gene_variant,,ENST00000516925,;MIR516B2,downstream_gene_variant,,ENST00000385190,;MIR526A2,downstream_gene_variant,,ENST00000390198,;	9	126	169	SUCCESS
NLRP12	91662	.	GRCh37	19	54308582	54308582	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	45	0	ENST00000324134.6:c.2366T>C	p.Leu789Pro	p.L789P	ENST00000324134	NM_144687.3	789	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS12864.1	2366	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCAGCATC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000319377	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.02)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Leu789Pro,ENST00000535162,;NLRP12,missense_variant,p.Leu789Pro,ENST00000391775,;NLRP12,missense_variant,p.Leu789Pro,ENST00000354278,;NLRP12,missense_variant,p.Leu790Pro,ENST00000391773,;NLRP12,missense_variant,p.Leu789Pro,ENST00000324134,;NLRP12,missense_variant,p.Leu790Pro,ENST00000391772,;NLRP12,missense_variant,p.Leu790Pro,ENST00000345770,;NLRP12,missense_variant,p.Leu789Pro,ENST00000351894,;NLRP12,non_coding_transcript_exon_variant,,ENST00000492915,;	2535	45	50	SUCCESS
KIR2DL3	3804	.	GRCh37	19	55263853	55263853	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	63	110	0	ENST00000342376.3:c.908A>T	p.Tyr303Phe	p.Y303F	ENST00000342376	NM_015868.2	303	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS33107.1	908	RADIA|MUTECT|MUSE	.	GACATATGCAC	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000342215	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000342376	Transcript	.	.	ENSG00000243772	6331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	tolerated(0.05)	.	KI2L3_HUMAN	KIR2DL3	HGNC	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN	.	UPI000012DB1C	SNV	KIR2DL3,missense_variant,p.Tyr303Phe,ENST00000342376,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,;	939	110	125	SUCCESS
NLRP5	126206	.	GRCh37	19	56538847	56538847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	57	0	ENST00000390649.3:c.1248G>T	p.Lys416Asn	p.K416N	ENST00000390649	NM_153447.4	416	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS12938.1	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGCTCAA	NONE	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	.	.	ENSP00000375063	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.444)	.	deleterious(0.03)	.	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,missense_variant,p.Lys416Asn,ENST00000390649,;	1248	57	82	SUCCESS
ZNF667	63934	.	GRCh37	19	56953879	56953879	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	57	103	0	ENST00000292069.6:c.485A>T	p.His162Leu	p.H162L	ENST00000292069	NM_022103.3	162	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS12944.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGATGAAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000439402	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000504904	Transcript	.	.	ENSG00000198046	28854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN667_HUMAN	ZNF667	HGNC	K7ERY5_HUMAN,K7EIE0_HUMAN	.	UPI0000202CEE	SNV	ZNF667,missense_variant,p.His290Leu,ENST00000342634,;ZNF667,missense_variant,p.His162Leu,ENST00000292069,;ZNF667,missense_variant,p.His162Leu,ENST00000504904,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;	1205	103	132	SUCCESS
MUC16	94025	.	GRCh37	19	9062327	9062327	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	63	0	ENST00000397910.4:c.25119A>T	p.Ser8373=	p.S8373=	ENST00000397910	NM_024690.2	8373	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54212.1	25119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTGAGTC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	25323	63	64	SUCCESS
MUC16	94025	.	GRCh37	19	9082590	9082590	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	65	101	0	ENST00000397910.4:c.9225T>A	p.Ala3075=	p.A3075=	ENST00000397910	NM_024690.2	3075	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54212.1	9225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAGAGCTGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	9429	101	149	SUCCESS
VAV3	10451	.	GRCh37	1	108152569	108152569	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	86	0	ENST00000370056.4:c.1999T>A	p.Tyr667Asn	p.Y667N	ENST00000370056	NM_006113.4	667	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS785.1	1999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATAATCTA	NONE	.	.	hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:3.30.505.10,Superfamily_domains:SSF50044,Superfamily_domains:SSF55550	.	.	ENSP00000359073	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0.01)	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Tyr71Asn,ENST00000544443,;VAV3,missense_variant,p.Tyr667Asn,ENST00000370056,;VAV3,missense_variant,p.Tyr667Asn,ENST00000527011,;VAV3,missense_variant,p.Tyr107Asn,ENST00000415432,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000529033,;VAV3,3_prime_UTR_variant,,ENST00000525231,;VAV3,3_prime_UTR_variant,,ENST00000529413,;VAV3,non_coding_transcript_exon_variant,,ENST00000479977,;	2274	86	106	SUCCESS
LRIG2	9860	.	GRCh37	1	113657138	113657138	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749321763	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	54	0	ENST00000361127.5:c.2170G>A	p.Ala724Thr	p.A724T	ENST00000361127	NM_014813.1	724	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS30808.1	2170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTGCCCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24367:SF230,hmmpanther:PTHR24367,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000355396	.	15/18	.	.	.	.	.	.	.	.	rs749321763	15/18	PASS	ENST00000361127	Transcript	.	.	ENSG00000198799	20889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.15)	.	LRIG2_HUMAN	LRIG2	HGNC	.	.	UPI000006F613	SNV	LRIG2,missense_variant,p.Ala724Thr,ENST00000361127,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;	2368	54	65	SUCCESS
RPTN	126638	.	GRCh37	1	152128332	152128332	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	83	101	0	ENST00000316073.3:c.1243T>A	p.Tyr415Asn	p.Y415N	ENST00000316073	NM_001122965.1	415	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS41397.1	1243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTAGTGGG	NONE	.	.	hmmpanther:PTHR22571:SF22,hmmpanther:PTHR22571	.	.	ENSP00000317895	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000316073	Transcript	.	.	ENSG00000215853	26809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	tolerated(0.05)	.	RPTN_HUMAN	RPTN	HGNC	Q8N1M7_HUMAN,Q2M1U7_HUMAN	.	UPI00002371E2	SNV	RPTN,missense_variant,p.Tyr415Asn,ENST00000316073,;	1308	101	159	SUCCESS
FCRL2	79368	.	GRCh37	1	157740434	157740434	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	46	0	ENST00000361516.3:c.75del	p.Ser26LeufsTer11	p.S26Lfs*11	ENST00000361516	NM_030764.3	25	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS1168.1	75	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGAGGGCGC	BUFFER|p.F29F|c.87C>T|4	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481:SF41,hmmpanther:PTHR11481	.	.	ENSP00000355157	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000361516	Transcript	.	.	ENSG00000132704	14875	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCRL2_HUMAN	FCRL2	HGNC	.	.	UPI000006E1F3	deletion	FCRL2,frameshift_variant,p.Ser26LeufsTer11,ENST00000361516,;FCRL2,frameshift_variant,p.Ser26LeufsTer11,ENST00000392274,;FCRL2,frameshift_variant,p.Ser26LeufsTer11,ENST00000368181,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,;FCRL2,upstream_gene_variant,,ENST00000368178,;	124	46	77	SUCCESS
DARC	0	.	GRCh37	1	159175433	159175433	+	synonymous_variant	Silent	SNP	C	C	T	rs375137235	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	66	0	ENST00000368122.2:c.204C>T	p.Thr68=	p.T68=	ENST00000368122	NM_002036.3	68	acC/acT	0	T:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS44252.1	210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCAGTGT	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559	.	T:0	ENSP00000357103	.	1/1	.	.	.	.	.	.	.	.	rs375137235	1/1	PASS	ENST00000368121	Transcript	.	.	ENSG00000213088	4035	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACKR1_HUMAN	DARC	HGNC	Q5Y7A1_HUMAN,Q5JY94_HUMAN,Q4VBN9_HUMAN	.	UPI000013E1B0	SNV	DARC,synonymous_variant,p.%3D,ENST00000368122,;DARC,synonymous_variant,p.%3D,ENST00000537147,;DARC,synonymous_variant,p.%3D,ENST00000435307,;DARC,synonymous_variant,p.%3D,ENST00000368121,;CADM3,downstream_gene_variant,,ENST00000368124,;CADM3,downstream_gene_variant,,ENST00000368125,;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;CADM3,downstream_gene_variant,,ENST00000497636,;	233	66	61	SUCCESS
DUSP12	11266	.	GRCh37	1	161723027	161723027	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	84	0	ENST00000367943.4:c.837T>G	p.Ala279=	p.A279=	ENST00000367943	NM_007240.1	279	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS1234.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTTTGTT	NONE	.	.	PIRSF_domain:PIRSF000941,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF105	.	.	ENSP00000356920	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000367943	Transcript	.	.	ENSG00000081721	3067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS12_HUMAN	DUSP12	HGNC	.	.	UPI0000034737	SNV	DUSP12,synonymous_variant,p.%3D,ENST00000367943,;DUSP12,3_prime_UTR_variant,,ENST00000484291,;DUSP12,non_coding_transcript_exon_variant,,ENST00000463365,;DUSP12,downstream_gene_variant,,ENST00000490591,;DUSP12,downstream_gene_variant,,ENST00000464004,;	869	84	85	SUCCESS
RGS4	5999	.	GRCh37	1	163043349	163043349	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	95	225	0	ENST00000367909.6:c.315T>A	p.Ser105=	p.S105=	ENST00000367909	NM_005613.5	105	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS44270.1	606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTAAACT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,Gene3D:1.10.167.10,hmmpanther:PTHR10845:SF40,hmmpanther:PTHR10845,PROSITE_profiles:PS50132	.	.	ENSP00000397181	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,synonymous_variant,p.%3D,ENST00000367909,;RGS4,synonymous_variant,p.%3D,ENST00000528938,;RGS4,synonymous_variant,p.%3D,ENST00000531057,;RGS4,synonymous_variant,p.%3D,ENST00000367906,;RGS4,synonymous_variant,p.%3D,ENST00000421743,;RGS4,synonymous_variant,p.%3D,ENST00000527809,;RGS4,intron_variant,,ENST00000367908,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,non_coding_transcript_exon_variant,,ENST00000533019,;RGS4,downstream_gene_variant,,ENST00000527393,;	766	225	242	SUCCESS
ASTN1	460	.	GRCh37	1	176838062	176838062	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	63	164	0	ENST00000361833.2:c.3565C>T	p.His1189Tyr	p.H1189Y	ENST00000361833		1189	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS1319.1	3565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTGTAAGG	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.343)	.	tolerated(0.65)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.His1197Tyr,ENST00000367654,;ASTN1,missense_variant,p.His1189Tyr,ENST00000424564,;ASTN1,missense_variant,p.His1189Tyr,ENST00000361833,;ASTN1,missense_variant,p.His1189Tyr,ENST00000367657,;	3579	164	192	SUCCESS
TDRD5	163589	.	GRCh37	1	179600021	179600021	+	synonymous_variant	Silent	SNP	A	A	T	rs775042435	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	95	255	0	ENST00000294848.8:c.1092A>T	p.Leu364=	p.L364=	ENST00000294848	NM_173533.3	364	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55663.1	1092	RADIA|MUTECT|MUSE	.	TTACTAGTGTT	NONE	.	.	hmmpanther:PTHR22948,PROSITE_profiles:PS51644	.	.	ENSP00000406052	.	7/18	.	.	.	.	.	.	.	.	rs775042435	7/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,synonymous_variant,p.%3D,ENST00000367614,;TDRD5,synonymous_variant,p.%3D,ENST00000444136,;TDRD5,synonymous_variant,p.%3D,ENST00000294848,;	1342	255	263	SUCCESS
KIAA1614	57710	.	GRCh37	1	180904396	180904396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	36	0	ENST00000367588.4:c.1351C>A	p.Arg451Ser	p.R451S	ENST00000367588	NM_020950.1	451	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS41442.1	1351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTGCGCTTT	NONE	.	.	hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7	.	.	ENSP00000356560	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000367588	Transcript	.	.	ENSG00000135835	29327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	K1614_HUMAN	KIAA1614	HGNC	.	.	UPI00001C1D75	SNV	KIAA1614,missense_variant,p.Arg451Ser,ENST00000367588,;KIAA1614,missense_variant,p.Arg72Ser,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,;	1406	36	62	SUCCESS
CACNA1E	777	.	GRCh37	1	181689967	181689967	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	25	0	ENST00000367573.2:c.1932T>A	p.Pro644=	p.P644=	ENST00000367573	NM_001205293.1	644	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS55664.1	1932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCTGCAGC	NONE	.	.	Prints_domain:PR00167,Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	15/48	.	.	.	.	.	.	.	.	.	15/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	1932	25	43	SUCCESS
CACNA1E	777	.	GRCh37	1	181702886	181702886	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs772170723	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	56	107	0	ENST00000367573.2:c.3262A>T	p.Ile1088Phe	p.I1088F	ENST00000367573	NM_001205293.1	1088	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS55664.1	3262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACAGTGAG	NONE	byFrequency	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	21/48	.	.	.	.	.	.	.	.	rs772170723	21/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	tolerated(0.07)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ile1020Phe,ENST00000358338,;CACNA1E,missense_variant,p.Ile695Phe,ENST00000367567,;CACNA1E,missense_variant,p.Ile1039Phe,ENST00000357570,;CACNA1E,missense_variant,p.Ile1069Phe,ENST00000360108,;CACNA1E,missense_variant,p.Ile1069Phe,ENST00000526775,;CACNA1E,missense_variant,p.Ile1088Phe,ENST00000367573,;CACNA1E,missense_variant,p.Ile1088Phe,ENST00000367570,;	3262	107	152	SUCCESS
LAMC2	3918	.	GRCh37	1	183207463	183207463	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764004232	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	35	0	ENST00000264144.4:c.2776C>A	p.Arg926Ser	p.R926S	ENST00000264144	NM_005562.2	926	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS1352.1	2776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCGTGCC	NONE	byFrequency	.	hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	.	.	ENSP00000264144	.	19/23	.	.	.	.	.	.	.	.	rs764004232,COSM1337006	19/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.984)	.	deleterious(0)	0,1	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,missense_variant,p.Arg926Ser,ENST00000264144,;LAMC2,missense_variant,p.Arg926Ser,ENST00000493293,;LAMC2,upstream_gene_variant,,ENST00000461729,;	2841	35	78	SUCCESS
SWT1	54823	.	GRCh37	1	185137519	185137519	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	160	226	0	ENST00000367500.4:c.213A>T	p.Gln71His	p.Q71H	ENST00000367500	NM_017673.6	71	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS1367.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAAGGACT	NONE	.	.	hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0	.	.	ENSP00000356470	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000367500	Transcript	.	.	ENSG00000116668	16785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.13)	.	SWT1_HUMAN	SWT1	HGNC	Q5TC96_HUMAN,B3KSB6_HUMAN	.	UPI000013D4C5	SNV	SWT1,missense_variant,p.Gln71His,ENST00000450350,;SWT1,missense_variant,p.Gln71His,ENST00000367501,;SWT1,missense_variant,p.Gln71His,ENST00000367500,;CTA-253N17.1,downstream_gene_variant,,ENST00000413694,;	378	226	299	SUCCESS
RGS18	64407	.	GRCh37	1	192129516	192129516	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	54	107	0	ENST00000367460.3:c.230C>T	p.Pro77Leu	p.P77L	ENST00000367460	NM_130782.2	77	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1374.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCTGAAG	NONE	.	.	hmmpanther:PTHR10845:SF153,hmmpanther:PTHR10845,Gene3D:1.10.196.10,Superfamily_domains:SSF48097	.	.	ENSP00000356430	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000367460	Transcript	.	.	ENSG00000150681	14261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	deleterious(0.04)	.	RGS18_HUMAN	RGS18	HGNC	.	.	UPI0000044571	SNV	RGS18,missense_variant,p.Pro77Leu,ENST00000367460,;RGS18,non_coding_transcript_exon_variant,,ENST00000492967,;RGS18,non_coding_transcript_exon_variant,,ENST00000481707,;RGS18,non_coding_transcript_exon_variant,,ENST00000491030,;	411	107	122	SUCCESS
PTPRC	5788	.	GRCh37	1	198711127	198711127	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	287	11	191	0	ENST00000442510.2:c.2533T>C	p.Phe845Leu	p.F845L	ENST00000442510		845	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1397.2	2533	MUTECT|MUSE	.	ATTTCTTCAGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,PIRSF_domain:PIRSF002004,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000411355	.	24/33	.	.	.	.	.	.	.	.	.	24/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Phe682Leu,ENST00000594404,;PTPRC,missense_variant,p.Phe684Leu,ENST00000348564,;PTPRC,missense_variant,p.Phe795Leu,ENST00000352140,;PTPRC,missense_variant,p.Phe843Leu,ENST00000367376,;PTPRC,missense_variant,p.Phe845Leu,ENST00000442510,;	2674	191	298	SUCCESS
PLXNA2	5362	.	GRCh37	1	208252776	208252776	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	70	0	ENST00000367033.3:c.2415A>T	p.Ala805=	p.A805=	ENST00000367033	NM_025179.3	805	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31013.1	2415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCTGCACA	NONE	.	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Gene3D:3.30.1680.10,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000356000	.	12/32	.	.	.	.	.	.	.	.	COSM532491	12/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,synonymous_variant,p.%3D,ENST00000367033,;	3173	70	80	SUCCESS
FAM71A	149647	.	GRCh37	1	212798434	212798434	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	33	86	0	ENST00000294829.3:c.215G>C	p.Gly72Ala	p.G72A	ENST00000294829	NM_153606.3	72	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS1507.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGGCATTG	NONE	.	.	hmmpanther:PTHR22574:SF9,hmmpanther:PTHR22574	.	.	ENSP00000294829	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000294829	Transcript	.	.	ENSG00000162771	26541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.12)	.	FA71A_HUMAN	FAM71A	HGNC	.	.	UPI000013E1C2	SNV	FAM71A,missense_variant,p.Gly72Ala,ENST00000294829,;ATF3,downstream_gene_variant,,ENST00000341491,;ATF3,downstream_gene_variant,,ENST00000366987,;RP11-338C15.5,intron_variant,,ENST00000427949,;ATF3,downstream_gene_variant,,ENST00000492118,;	646	86	95	SUCCESS
OBSCN	84033	.	GRCh37	1	228504614	228504614	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs116329268	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	20	0	ENST00000422127.1:c.13490A>T	p.Gln4497Leu	p.Q4497L	ENST00000422127	NM_001098623.2	4497	cAg/cTg	0	T:0.0121	T:0.0212	.	T:0.0043	.	T	Q/L	protein_coding	YES	CCDS59204.1	16361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCAGCCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	T:0.0001	ENSP00000455507	T:0	62/116	.	.	.	.	.	.	.	.	rs116329268	62/116	common_in_exac	ENST00000570156	Transcript	.	T:0.0062	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.441)	T:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Gln2131Leu,ENST00000366707,;OBSCN,missense_variant,p.Gln1616Leu,ENST00000366709,;OBSCN,missense_variant,p.Gln4497Leu,ENST00000284548,;OBSCN,missense_variant,p.Gln4497Leu,ENST00000422127,;OBSCN,missense_variant,p.Gln5454Leu,ENST00000570156,;	16435	20	15	SUCCESS
EXOC8	149371	.	GRCh37	1	231471360	231471360	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1275687185	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	67	133	0	ENST00000366645.1:c.2120C>G	p.Ser707Cys	p.S707C	ENST00000366645		707	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS1593.1	2132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTAGATGCA	NONE	.	.	hmmpanther:PTHR21426	.	.	ENSP00000353564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360394	Transcript	.	.	ENSG00000116903	24659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.43)	.	deleterious_low_confidence(0.04)	.	EXOC8_HUMAN	EXOC8	HGNC	.	.	UPI000006EA2C	SNV	EXOC8,missense_variant,p.Ser711Cys,ENST00000360394,;EXOC8,missense_variant,p.Ser707Cys,ENST00000366645,;SPRTN,upstream_gene_variant,,ENST00000008440,;SPRTN,upstream_gene_variant,,ENST00000366644,;SPRTN,upstream_gene_variant,,ENST00000295050,;SPRTN,upstream_gene_variant,,ENST00000391858,;SPRTN,upstream_gene_variant,,ENST00000492437,;	2219	133	186	SUCCESS
RYR2	6262	.	GRCh37	1	237804194	237804194	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	28	0	ENST00000366574.2:c.7116-3A>C		p.X2372_splice	ENST00000366574	NM_001035.2	2372		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55691.1	.	RADIA|MUSE	.	CATGAAAGTGA	NONE	.	.	.	.	.	ENSP00000355533	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	46/104	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,splice_region_variant,,ENST00000542537,;RYR2,splice_region_variant,,ENST00000366574,;RYR2,splice_region_variant,,ENST00000360064,;	.	28	33	SUCCESS
RYR2	6262	.	GRCh37	1	237804197	237804197	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	25	0	ENST00000366574.2:c.7116T>G		p.X2372_splice	ENST00000366574	NM_001035.2	2372	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS55691.1	7116	RADIA|MUTECT|MUSE	.	GAAAGTGACAC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,Low_complexity_(Seg):seg	.	.	ENSP00000355533	.	47/105	.	.	.	.	.	.	.	.	.	47/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	7433	25	34	SUCCESS
PRDM16	63976	.	GRCh37	1	3329100	3329100	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1038198761	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	24	0	ENST00000270722.5:c.2339A>G	p.Lys780Arg	p.K780R	ENST00000270722		780	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS41236.2	2339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAAAGACG	NONE	.	.	hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393	.	.	ENSP00000270722	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	tolerated(0.05)	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.Lys780Arg,ENST00000441472,;PRDM16,missense_variant,p.Lys781Arg,ENST00000514189,;PRDM16,missense_variant,p.Lys589Arg,ENST00000509860,;PRDM16,missense_variant,p.Lys780Arg,ENST00000270722,;PRDM16,missense_variant,p.Lys780Arg,ENST00000442529,;PRDM16,missense_variant,p.Lys781Arg,ENST00000511072,;PRDM16,missense_variant,p.Lys781Arg,ENST00000378398,;PRDM16,missense_variant,p.Lys780Arg,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	2388	24	28	SUCCESS
C1orf94	84970	.	GRCh37	1	34667730	34667730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	128	1	ENST00000488417.1:c.1316C>A	p.Thr439Lys	p.T439K	ENST00000488417	NM_001134734.1	439	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS44108.1	1316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACACAGGGA	NONE	.	.	.	.	.	ENSP00000435634	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	deleterious(0.01)	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,missense_variant,p.Thr439Lys,ENST00000488417,;C1orf94,missense_variant,p.Thr249Lys,ENST00000373374,;	1436	129	85	SUCCESS
RLF	6018	.	GRCh37	1	40704853	40704853	+	synonymous_variant	Silent	SNP	A	A	T	rs774363762	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	51	194	2	ENST00000372771.4:c.4479A>T	p.Val1493=	p.V1493=	ENST00000372771	NM_012421.3	1493	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS448.1	4479	RADIA|VARSCANS	.	AAGGTATGTCA	NONE	byFrequency	.	hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507	.	.	ENSP00000361857	.	8/8	.	.	.	.	.	.	.	.	rs774363762	8/8	PASS	ENST00000372771	Transcript	.	.	ENSG00000117000	10025	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,synonymous_variant,p.%3D,ENST00000372771,;	4506	197	202	SUCCESS
NFYC	4802	.	GRCh37	1	41236331	41236331	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs199650560	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	43	85	0	ENST00000308733.5:c.1208A>T	p.His403Leu	p.H403L	ENST00000308733		403	cAt/cTt	0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS44120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCATGCCC	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000396620	G:0.001	.	.	.	.	.	.	.	.	.	rs199650560	.	PASS	ENST00000425457	Transcript	.	G:0.0002	ENSG00000066136	7806	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	NFYC_HUMAN	NFYC	HGNC	Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN	.	UPI0000D4DA2D	SNV	NFYC,missense_variant,p.His403Leu,ENST00000308733,;NFYC,missense_variant,p.His384Leu,ENST00000372652,;NFYC,intron_variant,,ENST00000427410,;NFYC,intron_variant,,ENST00000414185,;NFYC,intron_variant,,ENST00000456393,;NFYC,intron_variant,,ENST00000440226,;NFYC,intron_variant,,ENST00000372651,;NFYC,intron_variant,,ENST00000425457,;NFYC,intron_variant,,ENST00000447388,;NFYC,intron_variant,,ENST00000372654,;NFYC,intron_variant,,ENST00000372653,;NFYC,downstream_gene_variant,,ENST00000372669,;NFYC,downstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000488635,;NFYC,non_coding_transcript_exon_variant,,ENST00000496608,;NFYC,downstream_gene_variant,,ENST00000525349,;NFYC,downstream_gene_variant,,ENST00000424419,;	.	85	72	SUCCESS
IPP	3652	.	GRCh37	1	46184955	46184955	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	41	63	0	ENST00000396478.3:c.1106A>C	p.Gln369Pro	p.Q369P	ENST00000396478	NM_005897.2	369	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS30702.1	1106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTGTTTA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF35,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0047741	.	.	ENSP00000379739	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000396478	Transcript	.	.	ENSG00000197429	6108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	IPP_HUMAN	IPP	HGNC	.	.	UPI000012D80B	SNV	IPP,missense_variant,p.Gln369Pro,ENST00000396478,;IPP,missense_variant,p.Gln369Pro,ENST00000359942,;	1209	63	67	SUCCESS
LRRC7	57554	.	GRCh37	1	70505455	70505455	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	63	0	ENST00000035383.5:c.3834A>G	p.Ile1278Met	p.I1278M	ENST00000035383	NM_020794.2	1278	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS645.1	3834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATAGAAGC	NONE	.	.	.	.	.	ENSP00000035383	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Ile562Met,ENST00000415775,;LRRC7,missense_variant,p.Ile1278Met,ENST00000035383,;LRRC7,missense_variant,p.Ile1283Met,ENST00000310961,;	3864	63	62	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74549849	74549849	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	59	198	0	ENST00000354431.4:c.868-9375A>T		p.*290*	ENST00000354431	NM_001105659.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41350.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAATACACA	NONE	.	.	.	.	.	ENSP00000346414	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354431	Transcript	.	.	ENSG00000162620	28318	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,3_prime_UTR_variant,,ENST00000370909,;LRRIQ3,intron_variant,,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000354431,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000468759,;LRRIQ3,3_prime_UTR_variant,,ENST00000415760,;	.	198	217	SUCCESS
SLC44A5	204962	.	GRCh37	1	75716965	75716965	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	61	0	ENST00000370855.5:c.275T>A	p.Leu92Ter	p.L92*	ENST00000370855	NM_152697.4	92	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS667.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACAAAATG	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385	.	.	ENSP00000359892	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,stop_gained,p.Leu92Ter,ENST00000370855,;SLC44A5,stop_gained,p.Leu92Ter,ENST00000370859,;SLC44A5,5_prime_UTR_variant,,ENST00000535611,;SLC44A5,non_coding_transcript_exon_variant,,ENST00000469525,;	389	61	73	SUCCESS
CLCA2	9635	.	GRCh37	1	86919189	86919189	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	38	0	ENST00000370565.4:c.2293C>A	p.Pro765Thr	p.P765T	ENST00000370565	NM_006536.5	765	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS708.1	2293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCCACCA	NONE	.	.	hmmpanther:PTHR10579:SF39,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359596	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000370565	Transcript	.	.	ENSG00000137975	2016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLCA2_HUMAN	CLCA2	HGNC	.	.	UPI0000035838	SNV	CLCA2,missense_variant,p.Pro765Thr,ENST00000370565,;CLCA2,non_coding_transcript_exon_variant,,ENST00000498802,;	2455	38	61	SUCCESS
SAMD11	148398	.	GRCh37	1	878348	878348	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	77	0	ENST00000342066.3:c.1475del	p.Gly492GlufsTer33	p.G492Efs*33	ENST00000342066	NM_152486.2	492	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS2.2	1474	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGCTGGAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF67	.	.	ENSP00000342313	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000342066	Transcript	.	.	ENSG00000187634	28706	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAM11_HUMAN	SAMD11	HGNC	Q5SV95_HUMAN,I7FV93_HUMAN,A6PWC8_HUMAN	.	UPI0000D61E04	deletion	SAMD11,frameshift_variant,p.Gly492GlufsTer33,ENST00000342066,;SAMD11,frameshift_variant,p.Gly319GlufsTer33,ENST00000455979,;SAMD11,frameshift_variant,p.Gly400GlufsTer33,ENST00000341065,;SAMD11,downstream_gene_variant,,ENST00000420190,;NOC2L,downstream_gene_variant,,ENST00000327044,;NOC2L,downstream_gene_variant,,ENST00000496938,;SAMD11,downstream_gene_variant,,ENST00000478729,;SAMD11,non_coding_transcript_exon_variant,,ENST00000474461,;SAMD11,downstream_gene_variant,,ENST00000464948,;SAMD11,downstream_gene_variant,,ENST00000466827,;NOC2L,downstream_gene_variant,,ENST00000483767,;NOC2L,downstream_gene_variant,,ENST00000477976,;	1557	77	73	SUCCESS
BTBD8	284697	.	GRCh37	1	92554445	92554445	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	100	0	ENST00000342818.3:c.344del	p.Leu115TyrfsTer11	p.L115Yfs*11	ENST00000342818	NM_183242.3	114	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS737.1	340	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAACGTTTTTA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24411:SF29,hmmpanther:PTHR24411,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000343686	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000342818	Transcript	.	.	ENSG00000189195	21019	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BTBD8_HUMAN	BTBD8	HGNC	.	.	UPI000014114A	deletion	BTBD8,frameshift_variant,p.Leu115TyrfsTer11,ENST00000540648,;BTBD8,frameshift_variant,p.Leu115TyrfsTer11,ENST00000370382,;BTBD8,frameshift_variant,p.Leu115TyrfsTer11,ENST00000342818,;	576	100	131	SUCCESS
CRNKL1	51340	.	GRCh37	20	20033133	20033133	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	76	0	ENST00000377340.2:c.337A>T	p.Arg113Ter	p.R113*	ENST00000377340	NM_016652.5	113	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS33446.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTCGCTT	NONE	.	.	.	.	.	ENSP00000366557	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000377340	Transcript	.	.	ENSG00000101343	15762	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRNL1_HUMAN	CRNKL1	HGNC	.	.	UPI00004A39A7	SNV	CRNKL1,stop_gained,p.Arg101Ter,ENST00000377327,;CRNKL1,stop_gained,p.Arg113Ter,ENST00000377340,;C20orf26,upstream_gene_variant,,ENST00000451767,;C20orf26,upstream_gene_variant,,ENST00000475466,;C20orf26,upstream_gene_variant,,ENST00000377306,;C20orf26,upstream_gene_variant,,ENST00000245957,;C20orf26,upstream_gene_variant,,ENST00000389656,;C20orf26,upstream_gene_variant,,ENST00000377309,;C20orf26,upstream_gene_variant,,ENST00000377303,;C20orf26,upstream_gene_variant,,ENST00000340348,;CRNKL1,upstream_gene_variant,,ENST00000536226,;CRNKL1,stop_gained,p.Arg101Ter,ENST00000490910,;CRNKL1,synonymous_variant,p.%3D,ENST00000496549,;C20orf26,upstream_gene_variant,,ENST00000494029,;	369	76	92	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20563863	20563863	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	72	0	ENST00000202677.7:c.2538T>A	p.Ser846Arg	p.S846R	ENST00000202677	NM_020343.3	846	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS46584.1	2538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTACTTTC	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	.	.	ENSP00000202677	.	20/40	.	.	.	.	.	.	.	.	.	20/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.797)	.	tolerated(0.06)	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,missense_variant,p.Ser846Arg,ENST00000202677,;RALGAPA2,missense_variant,p.Ser663Arg,ENST00000430436,;	2546	72	84	SUCCESS
SLC4A11	83959	.	GRCh37	20	3211392	3211392	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775876542	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	50	0	ENST00000380056.3:c.1316C>T	p.Ala439Val	p.A439V	ENST00000380056	NM_032034.3	439	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS54445.1	1397	MUTECT|MUSE|VARSCANS	.	AGAGCGCCAGG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11453:SF35,hmmpanther:PTHR11453,Pfam_domain:PF00955	.	.	ENSP00000369399	.	11/20	.	.	.	.	.	.	.	.	rs775876542,COSM241662	11/20	PASS	ENST00000380059	Transcript	1	.	ENSG00000088836	16438	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.666)	.	deleterious(0.04)	0,1	.	SLC4A11	HGNC	R9UQR4_HUMAN,R9UQ67_HUMAN,R9UQ64_HUMAN,R9UQ62_HUMAN,R9UQ58_HUMAN,R9UNY3_HUMAN	.	UPI00000738A5	SNV	SLC4A11,missense_variant,p.Ala423Val,ENST00000539553,;SLC4A11,missense_variant,p.Ala439Val,ENST00000380056,;SLC4A11,missense_variant,p.Ala466Val,ENST00000380059,;SLC4A11,downstream_gene_variant,,ENST00000437836,;SLC4A11,upstream_gene_variant,,ENST00000470631,;SLC4A11,upstream_gene_variant,,ENST00000488544,;SLC4A11,missense_variant,p.Ala404Val,ENST00000474451,;	1499	50	50	SUCCESS
SRSF6	6431	.	GRCh37	20	42089474	42089474	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	18	104	0	ENST00000244020.3:c.806A>G	p.Tyr269Cys	p.Y269C	ENST00000244020	NM_006275.5	269	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13318.1	806	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTATGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF7	.	.	ENSP00000244020	.	6/6	.	.	.	.	.	.	.	.	COSM577736	6/6	PASS	ENST00000244020	Transcript	.	.	ENSG00000124193	10788	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	unknown(0)	.	tolerated(0.15)	1	SRSF6_HUMAN	SRSF6	HGNC	.	.	UPI00001358C1	SNV	SRSF6,missense_variant,p.Tyr269Cys,ENST00000244020,;SRSF6,3_prime_UTR_variant,,ENST00000483871,;	912	104	127	SUCCESS
ZNF334	55713	.	GRCh37	20	45130663	45130663	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757781051	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	54	0	ENST00000347606.4:c.1315G>A	p.Gly439Arg	p.G439R	ENST00000347606	NM_018102.4	439	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS33480.1	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCACATT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000255129	.	5/5	.	.	.	.	.	.	.	.	rs757781051,COSM478232	5/5	PASS	ENST00000347606	Transcript	.	.	ENSG00000198185	15806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.036)	.	deleterious(0.03)	0,1	ZN334_HUMAN	ZNF334	HGNC	M0R3E1_HUMAN	.	UPI000004A0FE	SNV	ZNF334,missense_variant,p.Gly462Arg,ENST00000593880,;ZNF334,missense_variant,p.Gly439Arg,ENST00000347606,;ZNF334,missense_variant,p.Gly401Arg,ENST00000457685,;ZNF334,downstream_gene_variant,,ENST00000596323,;	1498	54	83	SUCCESS
RNF114	55905	.	GRCh37	20	48568649	48568649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	54	0	ENST00000244061.2:c.658G>T	p.Val220Leu	p.V220L	ENST00000244061	NM_018683.3	220	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS33482.1	658	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGTGTTG	NONE	.	.	hmmpanther:PTHR13982	.	.	ENSP00000244061	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000244061	Transcript	.	.	ENSG00000124226	13094	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.112)	.	deleterious(0.01)	.	RN114_HUMAN	RNF114	HGNC	H0UI65_HUMAN	.	UPI0000049FCA	SNV	RNF114,missense_variant,p.Val220Leu,ENST00000244061,;KRT18P4,upstream_gene_variant,,ENST00000422599,;	660	54	65	SUCCESS
CHGB	1114	.	GRCh37	20	5904188	5904188	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	51	0	ENST00000378961.4:c.1398G>A	p.Glu466=	p.E466=	ENST00000378961	NM_001819.2	466	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS13092.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAGCTGGA	NONE	.	.	Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583	.	.	ENSP00000368244	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000378961	Transcript	.	.	ENSG00000089199	1930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCG1_HUMAN	CHGB	HGNC	.	.	UPI000013C63D	SNV	CHGB,synonymous_variant,p.%3D,ENST00000378961,;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	1602	51	85	SUCCESS
PLCB1	23236	.	GRCh37	20	8713899	8713899	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	51	85	0	ENST00000338037.6:c.1903A>G	p.Ile635Val	p.I635V	ENST00000338037	NM_015192.3	635	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13102.1	1903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAATAAAT	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00387,Gene3D:3.20.20.190,PIRSF_domain:PIRSF000956,SMART_domains:SM00149,Superfamily_domains:SSF51695	.	.	ENSP00000338185	.	19/32	.	.	.	.	.	.	.	.	.	19/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.03)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Ile635Val,ENST00000378641,;PLCB1,missense_variant,p.Ile635Val,ENST00000338037,;PLCB1,missense_variant,p.Ile635Val,ENST00000378637,;PLCB1,upstream_gene_variant,,ENST00000439627,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Ile376Val,ENST00000487210,;	1930	85	102	SUCCESS
IGSF5	150084	.	GRCh37	21	41151111	41151111	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	49	0	ENST00000380588.4:c.813A>T	p.Leu271=	p.L271=	ENST00000380588	NM_001080444.1	271	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33562.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTAGCAGG	NONE	.	.	.	.	.	ENSP00000369962	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000380588	Transcript	.	.	ENSG00000183067	5952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGSF5_HUMAN	IGSF5	HGNC	.	.	UPI0000198970	SNV	IGSF5,synonymous_variant,p.%3D,ENST00000380588,;IGSF5,non_coding_transcript_exon_variant,,ENST00000479378,;	916	49	75	SUCCESS
FTCD	10841	.	GRCh37	21	47566181	47566181	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	rs374048282	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	41	87	0	ENST00000291670.5:c.967del	p.Glu323SerfsTer55	p.E323Sfs*55	ENST00000291670	NM_006657.2	323	Gag/ag	0	A:0.0002	.	.	.	.	-	E/X	protein_coding	YES	CCDS13731.1	967	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCACTCGATGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12234:SF0,hmmpanther:PTHR12234,Gene3D:1qd1A02,TIGRFAM_domain:TIGR02024,Pfam_domain:PF02971,Superfamily_domains:SSF55116	.	A:0	ENSP00000291670	.	8/15	.	.	.	.	.	.	.	.	rs374048282	8/15	PASS	ENST00000291670	Transcript	.	.	ENSG00000160282	3974	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FTCD_HUMAN	FTCD	HGNC	Q49AR5_HUMAN,D3DSM8_HUMAN	.	UPI000012AC75	deletion	FTCD,frameshift_variant,p.Glu323SerfsTer55,ENST00000397746,;FTCD,frameshift_variant,p.Glu323SerfsTer55,ENST00000359679,;FTCD,frameshift_variant,p.Glu323SerfsTer55,ENST00000291670,;FTCD,frameshift_variant,p.Glu323SerfsTer55,ENST00000397743,;FTCD,frameshift_variant,p.Glu323SerfsTer55,ENST00000355384,;FTCD,frameshift_variant,p.Glu323SerfsTer55,ENST00000397748,;FTCD,splice_region_variant,,ENST00000480950,;FTCD,splice_region_variant,,ENST00000498355,;FTCD,upstream_gene_variant,,ENST00000460011,;FTCD,upstream_gene_variant,,ENST00000488577,;FTCD,upstream_gene_variant,,ENST00000494498,;FTCD,splice_region_variant,,ENST00000469240,;	1011	87	142	SUCCESS
TTC28	23331	.	GRCh37	22	28426324	28426325	+	inframe_insertion	In_Frame_Ins	INS	-	-	TCA	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	106	0	ENST00000397906.2:c.3960_3962dup	p.Ser1320_Glu1321insAsp	p.S1320_E1321insD	ENST00000397906	NM_001145418.1	1321	gaa/gaTGAa	0	.	.	.	.	.	TCA	E/DE	protein_coding	YES	CCDS46678.1	3962-3963	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGCTTCACT	NONE	.	.	hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106	.	.	ENSP00000381003	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	insertion	TTC28,inframe_insertion,p.Ser28_Glu29insAsp,ENST00000442232,;TTC28,inframe_insertion,p.Ser1320_Glu1321insAsp,ENST00000397906,;	4104-4105	106	91	SUCCESS
CHEK2	11200	.	GRCh37	22	29130468	29130468	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	91	0	ENST00000328354.6:c.242A>C	p.Glu81Ala	p.E81A	ENST00000328354	NM_007194.3	81	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS33629.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTCAGGT	NONE	.	.	hmmpanther:PTHR24344,hmmpanther:PTHR24344:SF21,Low_complexity_(Seg):seg	.	.	ENSP00000372023	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000382580	Transcript	.	.	ENSG00000183765	16627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	deleterious_low_confidence(0.01)	.	CHK2_HUMAN	CHEK2	HGNC	B7ZBF2_HUMAN	.	UPI000034E4A3	SNV	CHEK2,missense_variant,p.Glu81Ala,ENST00000447421,;CHEK2,missense_variant,p.Glu81Ala,ENST00000404276,;CHEK2,missense_variant,p.Glu81Ala,ENST00000439200,;CHEK2,missense_variant,p.Glu81Ala,ENST00000382580,;CHEK2,missense_variant,p.Glu81Ala,ENST00000382578,;CHEK2,missense_variant,p.Glu81Ala,ENST00000348295,;CHEK2,missense_variant,p.Glu81Ala,ENST00000328354,;CHEK2,missense_variant,p.Glu81Ala,ENST00000405598,;CHEK2,missense_variant,p.Glu81Ala,ENST00000402731,;CHEK2,missense_variant,p.Glu81Ala,ENST00000382566,;CHEK2,missense_variant,p.Glu81Ala,ENST00000382565,;CHEK2,missense_variant,p.Glu81Ala,ENST00000403642,;CHEK2,missense_variant,p.Glu91Ala,ENST00000398017,;CHEK2,5_prime_UTR_variant,,ENST00000544772,;CHEK2,intron_variant,,ENST00000425190,;CHEK2,missense_variant,p.Glu81Ala,ENST00000433728,;CHEK2,missense_variant,p.Glu81Ala,ENST00000417588,;CHEK2,missense_variant,p.Glu81Ala,ENST00000433028,;CHEK2,missense_variant,p.Glu81Ala,ENST00000416671,;CHEK2,missense_variant,p.Glu81Ala,ENST00000448511,;CHEK2,upstream_gene_variant,,ENST00000454252,;	318	91	67	SUCCESS
MCM5	4174	.	GRCh37	22	35812706	35812706	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	65	0	ENST00000216122.4:c.1489G>C	p.Glu497Gln	p.E497Q	ENST00000216122	NM_006739.3	497	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS13915.1	1489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGAGACG	NONE	.	.	PROSITE_profiles:PS50051,hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00350,Superfamily_domains:SSF52540	.	.	ENSP00000216122	.	12/17	.	.	.	.	.	.	.	.	COSM3939633	12/17	PASS	ENST00000216122	Transcript	.	.	ENSG00000100297	6948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.632)	.	deleterious(0)	1	MCM5_HUMAN	MCM5	HGNC	B1AHB2_HUMAN,B1AHB0_HUMAN	.	UPI000000D8F4	SNV	MCM5,missense_variant,p.Glu497Gln,ENST00000216122,;MCM5,missense_variant,p.Glu454Gln,ENST00000382011,;MCM5,downstream_gene_variant,,ENST00000465557,;MCM5,downstream_gene_variant,,ENST00000464908,;MCM5,downstream_gene_variant,,ENST00000493569,;MCM5,non_coding_transcript_exon_variant,,ENST00000493076,;	1643	65	59	SUCCESS
C22orf46	79640	.	GRCh37	22	42086739	42086739	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	47	0	ENST00000402966.1:c.108T>G	p.Pro36=	p.P36=	ENST00000402966	NM_001142964.1	36	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46717.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTCAGTG	NONE	.	.	hmmpanther:PTHR22379,hmmpanther:PTHR22379:SF0	.	.	ENSP00000385467	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000402966	Transcript	.	.	ENSG00000184208	26294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV046_HUMAN	C22orf46	HGNC	.	.	UPI00018962D9	SNV	C22orf46,synonymous_variant,p.%3D,ENST00000402966,;NHP2L1,upstream_gene_variant,,ENST00000402458,;NHP2L1,upstream_gene_variant,,ENST00000401959,;NHP2L1,upstream_gene_variant,,ENST00000355257,;C22orf46,intron_variant,,ENST00000472110,;NHP2L1,upstream_gene_variant,,ENST00000469028,;NHP2L1,upstream_gene_variant,,ENST00000463675,;NHP2L1,upstream_gene_variant,,ENST00000469522,;Z83840.1,upstream_gene_variant,,ENST00000539984,;	193	47	49	SUCCESS
GLI2	2736	.	GRCh37	2	121728098	121728098	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	51	89	0	ENST00000361492.4:c.975C>A	p.Ala325=	p.A325=	ENST00000361492	NM_005270.4	325	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33283.1	975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCAGCA	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,synonymous_variant,p.%3D,ENST00000452319,;GLI2,synonymous_variant,p.%3D,ENST00000361492,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000360874,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000433812,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000445186,;	1035	89	113	SUCCESS
GLI2	2736	.	GRCh37	2	121728099	121728099	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	49	87	0	ENST00000361492.4:c.976C>A	p.Gln326Lys	p.Q326K	ENST00000361492	NM_005270.4	326	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS33283.1	976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCAGCAG	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.02)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Gln326Lys,ENST00000452319,;GLI2,missense_variant,p.Gln326Lys,ENST00000361492,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000360874,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000433812,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000445186,;	1036	87	112	SUCCESS
ACVR2A	92	.	GRCh37	2	148653868	148653868	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	47	0	ENST00000241416.7:c.56-2A>T		p.X19_splice	ENST00000241416	NM_001616.4	19		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATAGGTGC	NONE	.	.	.	.	.	ENSP00000241416	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	1/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,splice_acceptor_variant,,ENST00000241416,;ACVR2A,splice_acceptor_variant,,ENST00000404590,;ACVR2A,intron_variant,,ENST00000535787,;AC009480.3,downstream_gene_variant,,ENST00000402410,;ACVR2A,splice_acceptor_variant,,ENST00000462659,;ACVR2A,intron_variant,,ENST00000487959,;ACVR2A,splice_acceptor_variant,,ENST00000465329,;	.	47	69	SUCCESS
ACVR2A	92	.	GRCh37	2	148653985	148653987	+	frameshift_variant	Frame_Shift_Del	DEL	GCG	GCG	CC	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	GCG	GCG	.	.	.	.	.	.	.	.	.	.	.	.	.	87	18	66	0	ENST00000241416.7:c.171_173delinsCC	p.His59IlefsTer15	p.H59Ifs*15	ENST00000241416	NM_001616.4	57	cgGCGg/cgCCg	0	.	.	.	.	.	CC	RR/RX	protein_coding	YES	CCDS33301.1	171-173	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TAAACGGCGGCATT	NONE	.	.	Superfamily_domains:SSF57302,Gene3D:2.10.60.10,Pfam_domain:PF01064,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64	.	.	ENSP00000241416	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	substitution	ACVR2A,frameshift_variant,p.His59IlefsTer15,ENST00000241416,;ACVR2A,frameshift_variant,p.His59IlefsTer15,ENST00000404590,;ACVR2A,5_prime_UTR_variant,,ENST00000535787,;AC009480.3,downstream_gene_variant,,ENST00000402410,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000487959,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000462659,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000465329,;	807-809	66	105	SUCCESS
PXDN	7837	.	GRCh37	2	1652347	1652347	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	41	0	ENST00000252804.4:c.3205G>T	p.Ala1069Ser	p.A1069S	ENST00000252804	NM_012293.1	1069	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46221.1	3205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCCGCGG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000252804	.	17/23	.	.	.	.	.	.	.	.	COSM476123	17/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Ala1069Ser,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;	3256	41	35	SUCCESS
ZNF804A	91752	.	GRCh37	2	185800725	185800725	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371202844	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	39	102	0	ENST00000302277.6:c.602G>T	p.Gly201Val	p.G201V	ENST00000302277	NM_194250.1	201	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2291.1	602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGGGGATC	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	rs371202844	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0.01)	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,missense_variant,p.Gly201Val,ENST00000302277,;	1196	102	119	SUCCESS
ZSWIM2	151112	.	GRCh37	2	187697904	187697904	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	60	160	0	ENST00000295131.2:c.884A>T	p.Tyr295Phe	p.Y295F	ENST00000295131	NM_182521.2	295	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS33348.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGTATTTT	NONE	.	.	hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0	.	.	ENSP00000295131	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000295131	Transcript	.	.	ENSG00000163012	30990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	tolerated(0.47)	.	ZSWM2_HUMAN	ZSWIM2	HGNC	.	.	UPI000013E20D	SNV	ZSWIM2,missense_variant,p.Tyr295Phe,ENST00000295131,;	924	160	182	SUCCESS
PLCL1	5334	.	GRCh37	2	198948585	198948585	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	100	0	ENST00000428675.1:c.344T>A	p.Met115Lys	p.M115K	ENST00000428675	NM_006226.3	115	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS2326.2	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATGCAAG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000402861	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,missense_variant,p.Met41Lys,ENST00000487695,;PLCL1,missense_variant,p.Met115Lys,ENST00000428675,;PLCL1,missense_variant,p.Met17Lys,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	742	100	84	SUCCESS
PLB1	151056	.	GRCh37	2	28752185	28752185	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	rs542670180	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	40	0	ENST00000327757.5:c.327C>A		p.X109_splice	ENST00000327757	NM_153021.4	109	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33168.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTCCTTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1	.	.	ENSP00000330442	.	7/58	.	.	.	.	.	.	.	.	rs542670180	7/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,synonymous_variant,p.%3D,ENST00000416713,;PLB1,synonymous_variant,p.%3D,ENST00000327757,;PLB1,synonymous_variant,p.%3D,ENST00000422425,;PLB1,synonymous_variant,p.%3D,ENST00000404858,;	371	40	40	SUCCESS
FAM179A	0	.	GRCh37	2	29226440	29226440	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs967452992	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	12	111	0	ENST00000379558.4:c.722C>T	p.Pro241Leu	p.P241L	ENST00000379558	NM_199280.2	241	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1769.2	722	MUTECT|MUSE	.	CATCCCAAAGG	NONE	.	.	hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567	.	.	ENSP00000368876	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.05)	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,missense_variant,p.Pro241Leu,ENST00000403861,;FAM179A,missense_variant,p.Pro241Leu,ENST00000379558,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;	1073	111	160	SUCCESS
EML4	27436	.	GRCh37	2	42530527	42530527	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	57	116	0	ENST00000318522.5:c.1840A>T	p.Arg614Trp	p.R614W	ENST00000318522	NM_019063.3	614	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1807.1	1840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGGCAG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998	.	.	ENSP00000320663	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000318522	Transcript	.	.	ENSG00000143924	1316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	EMAL4_HUMAN	EML4	HGNC	F2Z2B5_HUMAN	.	UPI0000140350	SNV	EML4,missense_variant,p.Arg625Trp,ENST00000401738,;EML4,missense_variant,p.Arg614Trp,ENST00000318522,;EML4,missense_variant,p.Arg556Trp,ENST00000402711,;EML4,5_prime_UTR_variant,,ENST00000453191,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;	2102	116	133	SUCCESS
USP34	9736	.	GRCh37	2	61520656	61520656	+	synonymous_variant	Silent	SNP	T	T	C	rs913364792	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	44	166	0	ENST00000398571.2:c.4491A>G	p.Leu1497=	p.L1497=	ENST00000398571	NM_014709.3	1497	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42686.1	4491	RADIA|MUTECT|MUSE|VARSCANS	.	TCTAATAACTG	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97	.	.	ENSP00000381577	.	33/80	.	.	.	.	.	.	.	.	.	33/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,synonymous_variant,p.%3D,ENST00000398571,;USP34,intron_variant,,ENST00000472706,;	4568	166	219	SUCCESS
ARHGAP25	9938	.	GRCh37	2	69034418	69034418	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	67	184	0	ENST00000409202.3:c.480G>A	p.Gln160=	p.Q160=	ENST00000409202		160	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS33214.2	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCGCTT	NONE	.	.	Superfamily_domains:SSF48350,Gene3D:1.10.555.10,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF4,PROSITE_profiles:PS50238	.	.	ENSP00000386911	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000409202	Transcript	.	.	ENSG00000163219	28951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG25_HUMAN	ARHGAP25	HGNC	C9JB56_HUMAN	.	UPI0000251EDD	SNV	ARHGAP25,synonymous_variant,p.%3D,ENST00000409030,;ARHGAP25,synonymous_variant,p.%3D,ENST00000409202,;ARHGAP25,synonymous_variant,p.%3D,ENST00000467265,;ARHGAP25,synonymous_variant,p.%3D,ENST00000544262,;ARHGAP25,synonymous_variant,p.%3D,ENST00000497079,;ARHGAP25,synonymous_variant,p.%3D,ENST00000295381,;ARHGAP25,synonymous_variant,p.%3D,ENST00000497259,;ARHGAP25,synonymous_variant,p.%3D,ENST00000409220,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000456116,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000485700,;ARHGAP25,missense_variant,p.Ser92Asn,ENST00000488795,;ARHGAP25,synonymous_variant,p.%3D,ENST00000463483,;ARHGAP25,3_prime_UTR_variant,,ENST00000473986,;	845	184	180	SUCCESS
VAX2	25806	.	GRCh37	2	71127944	71127944	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1553409660	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	15	0	ENST00000234392.2:c.193G>A	p.Asp65Asn	p.D65N	ENST00000234392	NM_012476.2	65	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1911.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGACGGG	NONE	.	.	hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF23	.	.	ENSP00000234392	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000234392	Transcript	.	.	ENSG00000116035	12661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.13)	.	VAX2_HUMAN	VAX2	HGNC	F1T0K5_HUMAN	.	UPI0000138215	SNV	VAX2,missense_variant,p.Asp65Asn,ENST00000234392,;	225	15	17	SUCCESS
ZNF638	27332	.	GRCh37	2	71650150	71650150	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	42	97	0	ENST00000264447.4:c.3506C>G	p.Thr1169Ser	p.T1169S	ENST00000264447	NM_001014972.2	1169	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS1917.1	3506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAACTCAAG	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.14)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Thr109Ser,ENST00000409407,;ZNF638,missense_variant,p.Thr1169Ser,ENST00000409544,;ZNF638,missense_variant,p.Thr1169Ser,ENST00000264447,;ZNF638,intron_variant,,ENST00000355812,;ZNF638,intron_variant,,ENST00000483421,;ZNF638,upstream_gene_variant,,ENST00000493576,;ZNF638,upstream_gene_variant,,ENST00000472758,;ZNF638,upstream_gene_variant,,ENST00000492262,;ZNF638,upstream_gene_variant,,ENST00000461991,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,intron_variant,,ENST00000494241,;	4136	97	123	SUCCESS
DNAH6	1768	.	GRCh37	2	84880551	84880551	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	83	0	ENST00000237449.6:c.5187G>C	p.Glu1729Asp	p.E1729D	ENST00000237449		1729	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS46348.1	5187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGATGTG	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000374045	.	34/77	.	.	.	.	.	.	.	.	.	34/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.17)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Glu1729Asp,ENST00000237449,;DNAH6,missense_variant,p.Glu1729Asp,ENST00000398278,;DNAH6,missense_variant,p.Glu1729Asp,ENST00000389394,;DNAH6,upstream_gene_variant,,ENST00000602588,;	5324	83	91	SUCCESS
IGKV1-12	28940	.	GRCh37	2	89339962	89339962	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	441	142	476	0	ENST00000480492.1:c.110T>A	p.Val37Glu	p.V37E	ENST00000480492		37	gTa/gAa	0	.	.	.	.	.	T	V/E	IG_V_gene	YES	.	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTACAGAT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,PROSITE_profiles:PS50835	.	.	ENSP00000420576	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000480492	Transcript	.	.	ENSG00000243290	5730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	deleterious(0.01)	.	.	IGKV1-12	HGNC	.	.	UPI00001148EB	SNV	IGKV1-12,missense_variant,p.Val37Glu,ENST00000480492,;	157	476	584	SUCCESS
NR1I2	8856	.	GRCh37	3	119530549	119530549	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	48	0	ENST00000393716.2:c.495C>G	p.Thr165=	p.T165=	ENST00000393716	NM_003889.3	165	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2995.1	612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACCTTCTC	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39,Superfamily_domains:SSF48508	.	.	ENSP00000336528	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337940	Transcript	.	.	ENSG00000144852	7968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,synonymous_variant,p.%3D,ENST00000337940,;NR1I2,synonymous_variant,p.%3D,ENST00000466380,;NR1I2,synonymous_variant,p.%3D,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;NR1I2,downstream_gene_variant,,ENST00000474090,;	660	48	55	SUCCESS
ILDR1	286676	.	GRCh37	3	121712452	121712452	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	53	94	0	ENST00000344209.5:c.1144G>T	p.Asp382Tyr	p.D382Y	ENST00000344209	NM_001199799.1	382	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS56271.1	1144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCCTGGA	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3	.	.	ENSP00000345667	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000344209	Transcript	.	.	ENSG00000145103	28741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.02)	.	ILDR1_HUMAN	ILDR1	HGNC	.	.	UPI00003FF1E2	SNV	ILDR1,missense_variant,p.Asp293Tyr,ENST00000393631,;ILDR1,missense_variant,p.Asp338Tyr,ENST00000273691,;ILDR1,missense_variant,p.Asp382Tyr,ENST00000344209,;ILDR1,missense_variant,p.Asp350Tyr,ENST00000462014,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;	1271	94	100	SUCCESS
CCDC37	0	.	GRCh37	3	126135180	126135180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	83	0	ENST00000352312.1:c.247A>T	p.Met83Leu	p.M83L	ENST00000352312	NM_182628.2	83	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS3037.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACGATGCGG	NONE	.	.	hmmpanther:PTHR21683:SF5,hmmpanther:PTHR21683	.	.	ENSP00000344749	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000352312	Transcript	.	.	ENSG00000163885	26842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.89)	.	CCD37_HUMAN	CCDC37	HGNC	.	.	UPI000013E315	SNV	CCDC37,missense_variant,p.Met83Leu,ENST00000505024,;CCDC37,missense_variant,p.Met83Leu,ENST00000393425,;CCDC37,missense_variant,p.Met83Leu,ENST00000352312,;CCDC37,downstream_gene_variant,,ENST00000510833,;CCDC37,non_coding_transcript_exon_variant,,ENST00000533201,;CCDC37,upstream_gene_variant,,ENST00000507830,;CCDC37,upstream_gene_variant,,ENST00000503905,;	346	83	67	SUCCESS
STAG1	10274	.	GRCh37	3	136196226	136196226	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	38	0	ENST00000383202.2:c.931T>A	p.Cys311Ser	p.C311S	ENST00000383202	NM_005862.2	311	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS3090.1	931	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATACAAATGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51425,hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Superfamily_domains:SSF48371	.	.	ENSP00000372689	.	10/34	.	.	.	.	.	.	.	.	.	10/34	PASS	ENST00000383202	Transcript	.	.	ENSG00000118007	11354	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	STAG1_HUMAN	STAG1	HGNC	Q4LE48_HUMAN	.	UPI000020A2DE	SNV	STAG1,missense_variant,p.Cys85Ser,ENST00000434713,;STAG1,missense_variant,p.Cys311Ser,ENST00000383202,;STAG1,missense_variant,p.Cys311Ser,ENST00000236698,;STAG1,upstream_gene_variant,,ENST00000536929,;STAG1,upstream_gene_variant,,ENST00000492318,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;	1188	38	49	SUCCESS
P2RY1	5028	.	GRCh37	3	152553693	152553693	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766253716	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	53	104	0	ENST00000305097.3:c.122A>T	p.Lys41Ile	p.K41I	ENST00000305097	NM_002563.3	41	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS3169.1	122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAAATGCG	NONE	.	.	hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Superfamily_domains:SSF81321	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	rs766253716	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.01)	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,missense_variant,p.Lys41Ile,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	958	104	105	SUCCESS
MECOM	2122	.	GRCh37	3	168840403	168840403	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	111	0	ENST00000468789.1:c.379A>T	p.Ser127Cys	p.S127C	ENST00000468789	NM_001105078.3	127	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS54670.1	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACTGTCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000264674	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,missense_variant,p.Ser127Cys,ENST00000472280,;MECOM,missense_variant,p.Ser127Cys,ENST00000460814,;MECOM,missense_variant,p.Ser127Cys,ENST00000464456,;MECOM,missense_variant,p.Ser127Cys,ENST00000392736,;MECOM,missense_variant,p.Ser315Cys,ENST00000494292,;MECOM,missense_variant,p.Ser127Cys,ENST00000468789,;MECOM,missense_variant,p.Ser127Cys,ENST00000433243,;MECOM,missense_variant,p.Ser102Cys,ENST00000492586,;MECOM,missense_variant,p.Ser191Cys,ENST00000264674,;MECOM,downstream_gene_variant,,ENST00000460890,;MECOM,downstream_gene_variant,,ENST00000487503,;MECOM,downstream_gene_variant,,ENST00000484519,;MECOM,downstream_gene_variant,,ENST00000494597,;MECOM,non_coding_transcript_exon_variant,,ENST00000461430,;	710	111	89	SUCCESS
GPR160	26996	.	GRCh37	3	169802417	169802417	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	32	62	0	ENST00000355897.5:c.657A>C	p.Glu219Asp	p.E219D	ENST00000355897	NM_014373.2	219	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS3211.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAAACTAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR15573,Gene3D:1.20.1070.10	.	.	ENSP00000348161	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000355897	Transcript	.	.	ENSG00000173890	23693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.725)	.	deleterious(0.01)	.	GP160_HUMAN	GPR160	HGNC	C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN	.	UPI0000033731	SNV	GPR160,missense_variant,p.Glu219Asp,ENST00000355897,;GPR160,downstream_gene_variant,,ENST00000473675,;PHC3,downstream_gene_variant,,ENST00000484068,;GPR160,downstream_gene_variant,,ENST00000482710,;GPR160,downstream_gene_variant,,ENST00000492492,;GPR160,downstream_gene_variant,,ENST00000485735,;PHC3,downstream_gene_variant,,ENST00000495893,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;	1265	62	65	SUCCESS
KLHL24	54800	.	GRCh37	3	183381339	183381339	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	35	69	0	ENST00000242810.6:c.1014A>T	p.Val338=	p.V338=	ENST00000242810		338	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3246.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTAACAGG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF11,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000395012	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000454652	Transcript	.	.	ENSG00000114796	25947	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH24_HUMAN	KLHL24	HGNC	C9JXR5_HUMAN,C9JQ67_HUMAN,C9JN72_HUMAN,C9JMQ9_HUMAN,C9JCK3_HUMAN,C9J3M5_HUMAN,C9J2N4_HUMAN,C9J0A6_HUMAN	.	UPI000020A86F	SNV	KLHL24,synonymous_variant,p.%3D,ENST00000476808,;KLHL24,synonymous_variant,p.%3D,ENST00000242810,;KLHL24,synonymous_variant,p.%3D,ENST00000454652,;KLHL24,non_coding_transcript_exon_variant,,ENST00000475827,;KLHL24,upstream_gene_variant,,ENST00000492409,;	1400	69	64	SUCCESS
TPRG1	285386	.	GRCh37	3	189028173	189028173	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	79	0	ENST00000345063.3:c.480-2A>T		p.X160_splice	ENST00000345063	NM_198485.3	160		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTAGGAGA	NONE	.	.	.	.	.	ENSP00000341031	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000345063	Transcript	.	.	ENSG00000188001	24759	.	.	HIGH	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPRG1_HUMAN	TPRG1	HGNC	C9JDW1_HUMAN	.	UPI00001C08BF	SNV	TPRG1,splice_acceptor_variant,,ENST00000425670,;TPRG1,splice_acceptor_variant,,ENST00000433971,;TPRG1,splice_acceptor_variant,,ENST00000345063,;TPRG1,splice_acceptor_variant,,ENST00000481307,;TPRG1,splice_acceptor_variant,,ENST00000485836,;	.	79	86	SUCCESS
MUC4	4585	.	GRCh37	3	195507965	195507965	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	10	130	1	ENST00000463781.3:c.10486T>A	p.Ser3496Thr	p.S3496T	ENST00000463781	NM_018406.6	3496	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS54700.1	10486	MUTECT|MUSE|VARSCANS	.	TGCTGAGGAAG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.702)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Ser3496Thr,ENST00000463781,;MUC4,missense_variant,p.Ser3496Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Ser3496Thr,ENST00000470451,;MUC4,missense_variant,p.Ser3496Thr,ENST00000477086,;MUC4,missense_variant,p.Ser3496Thr,ENST00000466475,;MUC4,missense_variant,p.Ser3496Thr,ENST00000478156,;MUC4,missense_variant,p.Ser3496Thr,ENST00000479406,;MUC4,missense_variant,p.Ser3496Thr,ENST00000477756,;MUC4,missense_variant,p.Ser3496Thr,ENST00000462323,;MUC4,missense_variant,p.Ser3496Thr,ENST00000480843,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	10946	131	126	SUCCESS
MUC4	4585	.	GRCh37	3	195511179	195511179	+	synonymous_variant	Silent	SNP	T	T	A	rs1185644900	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	294	28	313	0	ENST00000463781.3:c.7272A>T	p.Ser2424=	p.S2424=	ENST00000463781	NM_018406.6	2424	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS54700.1	7272	MUTECT|MUSE|VARSCANS	.	GAAGCTGAGGA	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	7732	313	322	SUCCESS
EOMES	8320	.	GRCh37	3	27759263	27759263	+	intron_variant	Intron	SNP	T	T	C	rs1372507789	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	60	0	ENST00000295743.4:c.1380-21A>G		p.*460*	ENST00000295743	NM_005442.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2646.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGGAGT	NONE	.	.	.	.	.	ENSP00000295743	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295743	Transcript	.	.	ENSG00000163508	3372	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EOMES_HUMAN	EOMES	HGNC	.	.	UPI000013E29D	SNV	EOMES,synonymous_variant,p.%3D,ENST00000537516,;EOMES,synonymous_variant,p.%3D,ENST00000449599,;EOMES,intron_variant,,ENST00000295743,;RP11-222K16.2,downstream_gene_variant,,ENST00000606069,;EOMES,downstream_gene_variant,,ENST00000461503,;	.	60	69	SUCCESS
CNTN4	152330	.	GRCh37	3	3084827	3084827	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759618514	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	102	455	1	ENST00000397461.1:c.2678A>T	p.Asn893Ile	p.N893I	ENST00000397461	NM_001206955.1	893	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS43041.1	2678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAATGTGA	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF568,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000380602	.	21/24	.	.	.	.	.	.	.	.	rs759618514	21/24	PASS	ENST00000397461	Transcript	.	.	ENSG00000144619	2174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	CNTN4_HUMAN	CNTN4	HGNC	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN	.	UPI000007446C	SNV	CNTN4,missense_variant,p.Asn565Ile,ENST00000397459,;CNTN4,missense_variant,p.Asn893Ile,ENST00000397461,;CNTN4,missense_variant,p.Asn565Ile,ENST00000448906,;CNTN4,missense_variant,p.Asn893Ile,ENST00000418658,;CNTN4,missense_variant,p.Asn674Ile,ENST00000358480,;CNTN4,missense_variant,p.Asn893Ile,ENST00000427331,;CNTN4-AS1,intron_variant,,ENST00000442749,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;CNTN4,downstream_gene_variant,,ENST00000427741,;	3062	456	394	SUCCESS
IP6K2	51447	.	GRCh37	3	48732073	48732073	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	41	0	ENST00000328631.5:c.202+450G>T		p.*68*	ENST00000328631	NM_016291.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2777.1	.	MUTECT|MUSE	.	ATCAGCACAGG	NONE	.	.	.	.	.	ENSP00000331103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328631	Transcript	.	.	ENSG00000068745	17313	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IP6K2_HUMAN	IP6K2	HGNC	C9JU99_HUMAN,C9JMC9_HUMAN,C9JLG7_HUMAN,C9JK62_HUMAN,C9JHX0_HUMAN,C9JGK2_HUMAN,B2RCP4_HUMAN	.	UPI00000732B2	SNV	IP6K2,3_prime_UTR_variant,,ENST00000431721,;IP6K2,3_prime_UTR_variant,,ENST00000449610,;IP6K2,3_prime_UTR_variant,,ENST00000417896,;IP6K2,3_prime_UTR_variant,,ENST00000443964,;IP6K2,3_prime_UTR_variant,,ENST00000446860,;IP6K2,intron_variant,,ENST00000413298,;IP6K2,intron_variant,,ENST00000449563,;IP6K2,intron_variant,,ENST00000412850,;IP6K2,intron_variant,,ENST00000413654,;IP6K2,intron_variant,,ENST00000437427,;IP6K2,intron_variant,,ENST00000454335,;IP6K2,intron_variant,,ENST00000455545,;IP6K2,intron_variant,,ENST00000340879,;IP6K2,intron_variant,,ENST00000443853,;IP6K2,intron_variant,,ENST00000450045,;IP6K2,intron_variant,,ENST00000328631,;IP6K2,intron_variant,,ENST00000432678,;IP6K2,downstream_gene_variant,,ENST00000453202,;IP6K2,downstream_gene_variant,,ENST00000434860,;IP6K2,downstream_gene_variant,,ENST00000424035,;IP6K2,downstream_gene_variant,,ENST00000440424,;IP6K2,downstream_gene_variant,,ENST00000436134,;IP6K2,downstream_gene_variant,,ENST00000476645,;IP6K2,intron_variant,,ENST00000479914,;IP6K2,intron_variant,,ENST00000412795,;IP6K2,intron_variant,,ENST00000416707,;IP6K2,intron_variant,,ENST00000433104,;IP6K2,upstream_gene_variant,,ENST00000491686,;	.	41	36	SUCCESS
CACNA2D3	55799	.	GRCh37	3	54880437	54880437	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs368852689	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	47	0	ENST00000288197.5:c.1569T>A	p.Tyr523Ter	p.Y523*	ENST00000288197		523	taT/taA	0	C:0	.	.	.	.	A	Y/*	protein_coding	YES	CCDS54598.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTATGCCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166,Pfam_domain:PF02743	.	C:0.0004	ENSP00000419101	.	17/38	.	.	.	.	.	.	.	.	rs368852689	17/38	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	SNV	CACNA2D3,stop_gained,p.Tyr523Ter,ENST00000474759,;CACNA2D3,stop_gained,p.Tyr523Ter,ENST00000415676,;CACNA2D3,stop_gained,p.Tyr429Ter,ENST00000490478,;CACNA2D3,stop_gained,p.Tyr523Ter,ENST00000288197,;CACNA2D3,stop_gained,p.Tyr429Ter,ENST00000477024,;CACNA2D3,stop_gained,p.Tyr423Ter,ENST00000471363,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;	1617	47	56	SUCCESS
IL17RD	54756	.	GRCh37	3	57148802	57148802	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	32	50	0	ENST00000296318.7:c.228T>A	p.Ala76=	p.A76=	ENST00000296318	NM_017563.3	76	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2880.2	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCAGCAAT	NONE	.	.	hmmpanther:PTHR15583:SF8,hmmpanther:PTHR15583	.	.	ENSP00000296318	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000296318	Transcript	.	.	ENSG00000144730	17616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I17RD_HUMAN	IL17RD	HGNC	C9J6R0_HUMAN	.	UPI0000047CC3	SNV	IL17RD,synonymous_variant,p.%3D,ENST00000427856,;IL17RD,synonymous_variant,p.%3D,ENST00000296318,;IL17RD,5_prime_UTR_variant,,ENST00000463523,;IL17RD,5_prime_UTR_variant,,ENST00000320057,;IL17RD,5_prime_UTR_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000479825,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	317	50	60	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64084768	64084768	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	77	0	ENST00000295902.6:c.2494A>T	p.Ser832Cys	p.S832C	ENST00000295902	NM_198859.3	832	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2902.1	2494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTGTGCA	NONE	.	.	hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218	.	.	ENSP00000295902	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.471)	.	tolerated(0.08)	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,missense_variant,p.Ser832Cys,ENST00000295902,;PRICKLE2,missense_variant,p.Ser888Cys,ENST00000564377,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000476308,;	3080	77	72	SUCCESS
OR5H6	79295	.	GRCh37	3	97983418	97983418	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	28	129	0	ENST00000383696.2:c.290T>G	p.Met97Arg	p.M97R	ENST00000383696	NM_001005479.1	97	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS33800.1	290	RADIA|MUTECT|MUSE	.	GAAGATGCTGA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF231,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000373196	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383696	Transcript	.	.	ENSG00000230301	14767	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	OR5H6_HUMAN	OR5H6	HGNC	.	.	UPI000004B1EC	SNV	OR5H6,missense_variant,p.Met97Arg,ENST00000383696,;RP11-325B23.2,intron_variant,,ENST00000508616,;	331	129	116	SUCCESS
WHSC1	0	.	GRCh37	4	1918629	1918629	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	192	259	1	ENST00000382895.3:c.792A>T	p.Val264=	p.V264=	ENST00000382895	NM_133330.2	264	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33940.1	792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGTACAGTT	NONE	.	.	PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Gene3D:2.30.30.160,Pfam_domain:PF00855,SMART_domains:SM00293,Superfamily_domains:SSF63748	.	.	ENSP00000372351	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,synonymous_variant,p.%3D,ENST00000508803,;WHSC1,synonymous_variant,p.%3D,ENST00000398261,;WHSC1,synonymous_variant,p.%3D,ENST00000503128,;WHSC1,synonymous_variant,p.%3D,ENST00000420906,;WHSC1,synonymous_variant,p.%3D,ENST00000382892,;WHSC1,synonymous_variant,p.%3D,ENST00000382895,;WHSC1,synonymous_variant,p.%3D,ENST00000514045,;WHSC1,synonymous_variant,p.%3D,ENST00000382891,;WHSC1,synonymous_variant,p.%3D,ENST00000509115,;WHSC1,downstream_gene_variant,,ENST00000436793,;WHSC1,synonymous_variant,p.%3D,ENST00000353275,;WHSC1,synonymous_variant,p.%3D,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000512700,;WHSC1,non_coding_transcript_exon_variant,,ENST00000508355,;WHSC1,upstream_gene_variant,,ENST00000511904,;	1223	261	239	SUCCESS
SLIT2	9353	.	GRCh37	4	20487848	20487848	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	231	292	0	ENST00000504154.1:c.565A>T	p.Arg189Ter	p.R189*	ENST00000504154	NM_004787.1	189	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS3426.1	565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTAGACTT	NONE	.	.	PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000422591	.	7/37	.	.	.	.	.	.	.	.	.	7/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,stop_gained,p.Arg189Ter,ENST00000273739,;SLIT2,stop_gained,p.Arg189Ter,ENST00000504154,;SLIT2,stop_gained,p.Arg189Ter,ENST00000503823,;SLIT2,stop_gained,p.Arg189Ter,ENST00000503837,;SLIT2,downstream_gene_variant,,ENST00000508824,;	817	292	303	SUCCESS
TMEM156	80008	.	GRCh37	4	38995620	38995620	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	80	124	0	ENST00000381938.3:c.359-2A>T		p.X120_splice	ENST00000381938	NM_024943.1	120		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3448.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTAGAAA	NONE	.	.	.	.	.	ENSP00000371364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381938	Transcript	.	.	ENSG00000121895	26260	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM156_HUMAN	TMEM156	HGNC	.	.	UPI000006D7FE	SNV	TMEM156,splice_acceptor_variant,,ENST00000344606,;TMEM156,splice_acceptor_variant,,ENST00000381938,;TMEM156,downstream_gene_variant,,ENST00000372489,;	.	124	104	SUCCESS
GRXCR1	389207	.	GRCh37	4	43032535	43032535	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769123480	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	14	66	0	ENST00000399770.2:c.851G>A	p.Arg284His	p.R284H	ENST00000399770	NM_001080476.2	284	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS43225.1	851	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGTTGTA	NONE	byFrequency	.	hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168	.	.	ENSP00000382670	.	4/4	.	.	.	.	.	.	.	.	rs769123480	4/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.792)	.	tolerated(0.05)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Arg284His,ENST00000399770,;	851	66	83	SUCCESS
GK2	2712	.	GRCh37	4	80327914	80327914	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760784255	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	26	150	0	ENST00000358842.3:c.1441G>A	p.Val481Ile	p.V481I	ENST00000358842	NM_033214.2	481	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS3585.1	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACTGACA	NONE	.	.	Superfamily_domains:SSF53067,PIRSF_domain:PIRSF000538,Gene3D:3.30.420.40,TIGRFAM_domain:TIGR01311,hmmpanther:PTHR10196:SF46,hmmpanther:PTHR10196	.	.	ENSP00000351706	.	1/1	.	.	.	.	.	.	.	.	rs760784255	1/1	PASS	ENST00000358842	Transcript	.	.	ENSG00000196475	4291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.44)	.	GLPK2_HUMAN	GK2	HGNC	.	.	UPI000011E629	SNV	GK2,missense_variant,p.Val481Ile,ENST00000358842,;	1459	150	123	SUCCESS
PTPN13	5783	.	GRCh37	4	87622936	87622936	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	70	109	1	ENST00000411767.2:c.1177G>A	p.Glu393Lys	p.E393K	ENST00000411767		393	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47093.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGAAGCC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	7/48	.	.	.	.	.	.	.	.	.	7/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.07)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Glu393Lys,ENST00000411767,;PTPN13,missense_variant,p.Glu393Lys,ENST00000436978,;PTPN13,missense_variant,p.Glu393Lys,ENST00000316707,;PTPN13,missense_variant,p.Glu393Lys,ENST00000511467,;PTPN13,missense_variant,p.Glu393Lys,ENST00000427191,;	1657	110	90	SUCCESS
PPIP5K2	23262	.	GRCh37	5	102515845	102515845	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	25	67	0	ENST00000358359.3:c.2878A>T	p.Arg960Trp	p.R960W	ENST00000358359	NM_001281471.1	960	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS34207.1	2878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACAGGAAG	NONE	.	.	hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750	.	.	ENSP00000313070	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000321521	Transcript	.	.	ENSG00000145725	29035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious_low_confidence(0)	.	VIP2_HUMAN	PPIP5K2	HGNC	K7EPT7_HUMAN,D6RFG4_HUMAN	.	UPI000006E414	SNV	PPIP5K2,missense_variant,p.Arg960Trp,ENST00000414217,;PPIP5K2,missense_variant,p.Arg63Trp,ENST00000511022,;PPIP5K2,missense_variant,p.Arg960Trp,ENST00000321521,;PPIP5K2,missense_variant,p.Arg234Trp,ENST00000509597,;PPIP5K2,missense_variant,p.Arg960Trp,ENST00000358359,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000507966,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000511724,;PPIP5K2,upstream_gene_variant,,ENST00000510672,;	3451	67	106	SUCCESS
TICAM2	353376	.	GRCh37	5	114916995	114916995	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	16	0	ENST00000427199.2:c.-42A>G		p.*14*	ENST00000427199	NM_021649.6			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54887.1	.	MUTECT|MUSE	.	ATTTCTCAGCA	NONE	.	.	.	.	.	ENSP00000282382	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282382	Transcript	.	.	ENSG00000251201	33945	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TMED7-TICAM2	HGNC	G3V2Y2_HUMAN	.	UPI00003779F1	SNV	TMED7-TICAM2,3_prime_UTR_variant,,ENST00000333314,;TICAM2,5_prime_UTR_variant,,ENST00000427199,;TMED7-TICAM2,intron_variant,,ENST00000282382,;TICAM2,intron_variant,,ENST00000408996,;TICAM2,downstream_gene_variant,,ENST00000513729,;TMED7-TICAM2,non_coding_transcript_exon_variant,,ENST00000514548,;	.	16	19	SUCCESS
DMXL1	1657	.	GRCh37	5	118407346	118407346	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	57	0	ENST00000311085.8:c.82T>G	p.Phe28Val	p.F28V	ENST00000311085	NM_005509.4	28	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS4125.1	82	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCTTCACG	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12	.	.	ENSP00000309690	.	1/43	.	.	.	.	.	.	.	.	.	1/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	deleterious(0.01)	.	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Phe28Val,ENST00000539542,;DMXL1,missense_variant,p.Phe28Val,ENST00000311085,;DMXL1,missense_variant,p.Phe28Val,ENST00000503802,;snoU13,upstream_gene_variant,,ENST00000458753,;CTB-161M19.4,upstream_gene_variant,,ENST00000510128,;CTB-161M19.4,upstream_gene_variant,,ENST00000504820,;DMXL1,non_coding_transcript_exon_variant,,ENST00000510924,;DMXL1,intron_variant,,ENST00000509902,;	162	57	87	SUCCESS
TGFBI	7045	.	GRCh37	5	135388630	135388630	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	46	96	0	ENST00000442011.2:c.948G>C	p.Met316Ile	p.M316I	ENST00000442011	NM_000358.2	316	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS47266.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATGTGTGC	NONE	.	.	PROSITE_profiles:PS50213,hmmpanther:PTHR10900:SF74,hmmpanther:PTHR10900,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Superfamily_domains:SSF82153	.	.	ENSP00000416330	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000442011	Transcript	1	.	ENSG00000120708	11771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.06)	.	BGH3_HUMAN	TGFBI	HGNC	D6RBX4_HUMAN,C7FFS5_HUMAN	.	UPI0000000C6A	SNV	TGFBI,missense_variant,p.Met316Ile,ENST00000442011,;TGFBI,missense_variant,p.Met34Ile,ENST00000514554,;TGFBI,missense_variant,p.Met316Ile,ENST00000305126,;TGFBI,missense_variant,p.Met60Ile,ENST00000604555,;TGFBI,intron_variant,,ENST00000508767,;TGFBI,3_prime_UTR_variant,,ENST00000507018,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,downstream_gene_variant,,ENST00000509749,;TGFBI,upstream_gene_variant,,ENST00000509485,;TGFBI,upstream_gene_variant,,ENST00000514242,;	1109	96	142	SUCCESS
ANKHD1	54882	.	GRCh37	5	139838859	139838859	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749277304	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	38	94	0	ENST00000360839.2:c.1591A>G	p.Ile531Val	p.I531V	ENST00000360839	NM_017747.2	531	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4224.1	1591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATATAGAA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR23206,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000297183	.	9/36	.	.	.	.	.	.	.	.	rs749277304	9/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Ile531Val,ENST00000297183,;ANKHD1,missense_variant,p.Ile531Val,ENST00000394723,;ANKHD1,missense_variant,p.Ile7Val,ENST00000246149,;ANKHD1,missense_variant,p.Ile531Val,ENST00000360839,;ANKHD1,missense_variant,p.Ile520Val,ENST00000394722,;ANKHD1,missense_variant,p.Ile531Val,ENST00000421134,;ANKHD1-EIF4EBP3,missense_variant,p.Ile531Val,ENST00000532219,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000490185,;	1715	94	126	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140793533	140793533	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	34	65	1	ENST00000398610.2:c.791A>T	p.Gln264Leu	p.Q264L	ENST00000398610	NM_018913.2	264	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS47292.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCAGCTGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.17)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Gln264Leu,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	791	66	105	SUCCESS
AFAP1L1	134265	.	GRCh37	5	148682070	148682070	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	46	0	ENST00000296721.4:c.417T>C	p.Pro139=	p.P139=	ENST00000296721	NM_152406.2	139	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34274.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTGAGTA	NONE	.	.	Superfamily_domains:SSF50729,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1	.	.	ENSP00000296721	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000296721	Transcript	.	.	ENSG00000157510	26714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF1L1_HUMAN	AFAP1L1	HGNC	.	.	UPI00001C1E2F	SNV	AFAP1L1,synonymous_variant,p.%3D,ENST00000296721,;AFAP1L1,synonymous_variant,p.%3D,ENST00000515000,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000508444,;	515	46	55	SUCCESS
FAT2	2196	.	GRCh37	5	150946663	150946663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	41	83	0	ENST00000261800.5:c.1830T>A	p.Phe610Leu	p.F610L	ENST00000261800	NM_001447.2	610	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS4317.1	1830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCAAAATA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Phe610Leu,ENST00000261800,;	1843	83	122	SUCCESS
CYFIP2	26999	.	GRCh37	5	156816275	156816275	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	52	56	0	ENST00000521420.1:c.3208C>T	p.Leu1070=	p.L1070=	ENST00000521420		1070	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	.	3208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCTGACC	NONE	.	.	hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994,Prints_domain:PR01698	.	.	ENSP00000430904	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000521420	Transcript	.	.	ENSG00000055163	13760	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CYFIP2	HGNC	E7EVJ5_HUMAN	.	UPI0001D55E6B	SNV	CYFIP2,synonymous_variant,p.%3D,ENST00000521420,;CYFIP2,synonymous_variant,p.%3D,ENST00000377576,;CYFIP2,synonymous_variant,p.%3D,ENST00000541131,;CYFIP2,synonymous_variant,p.%3D,ENST00000318218,;CYFIP2,synonymous_variant,p.%3D,ENST00000435847,;CYFIP2,synonymous_variant,p.%3D,ENST00000347377,;CYFIP2,synonymous_variant,p.%3D,ENST00000522463,;CYFIP2,3_prime_UTR_variant,,ENST00000442283,;CTB-109A12.1,intron_variant,,ENST00000519499,;CTB-47B11.3,upstream_gene_variant,,ENST00000508443,;CTB-47B11.3,upstream_gene_variant,,ENST00000520658,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000522775,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000524058,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000523383,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000522884,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000519663,;	3299	56	89	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33576426	33576426	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	93	118	0	ENST00000504830.1:c.3705A>G	p.Arg1235=	p.R1235=	ENST00000504830	NM_030955.2	1235	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS34140.1	3705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTCTGGG	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	.	.	ENSP00000422554	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,synonymous_variant,p.%3D,ENST00000504830,;ADAMTS12,synonymous_variant,p.%3D,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	4041	118	185	SUCCESS
HCN1	348980	.	GRCh37	5	45353293	45353293	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	45	0	ENST00000303230.4:c.1286A>T	p.Gln429Leu	p.Q429L	ENST00000303230	NM_021072.3	429	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS3952.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGACGC	BUFFER|p.R428H|c.1283G>A|3	.	.	Superfamily_domains:SSF51206,Gene3D:3bpzA01,hmmpanther:PTHR10217:SF373,hmmpanther:PTHR10217	.	.	ENSP00000307342	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000303230	Transcript	1	.	ENSG00000164588	4845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	deleterious(0.01)	.	HCN1_HUMAN	HCN1	HGNC	.	.	UPI00001AED69	SNV	HCN1,missense_variant,p.Gln429Leu,ENST00000303230,;	1344	45	76	SUCCESS
POC5	134359	.	GRCh37	5	74981226	74981226	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	98	0	ENST00000428202.2:c.1213G>C	p.Ala405Pro	p.A405P	ENST00000428202	NM_001099271.1	405	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS47236.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCTGAAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000410216	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000428202	Transcript	.	.	ENSG00000152359	26658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.17)	.	POC5_HUMAN	POC5	HGNC	D6RJ06_HUMAN,D6REA5_HUMAN,D6RBC1_HUMAN	.	UPI000020CB20	SNV	POC5,missense_variant,p.Ala288Pro,ENST00000510798,;POC5,missense_variant,p.Ala377Pro,ENST00000514838,;POC5,missense_variant,p.Ala288Pro,ENST00000380475,;POC5,missense_variant,p.Ala380Pro,ENST00000446329,;POC5,missense_variant,p.Ala405Pro,ENST00000428202,;POC5,upstream_gene_variant,,ENST00000503521,;	1403	98	92	SUCCESS
TMEM161B	153396	.	GRCh37	5	87494949	87494949	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756368846	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	60	101	0	ENST00000296595.6:c.933C>A	p.Phe311Leu	p.F311L	ENST00000296595	NM_153354.3	311	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS4065.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCGAATGT	BUFFER|p.R315Q|c.944G>A|3	byFrequency	.	Pfam_domain:PF10268,hmmpanther:PTHR13624:SF3,hmmpanther:PTHR13624	.	.	ENSP00000296595	.	10/12	.	.	.	.	.	.	.	.	rs756368846	10/12	PASS	ENST00000296595	Transcript	.	.	ENSG00000164180	28483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.589)	.	deleterious(0)	.	T161B_HUMAN	TMEM161B	HGNC	D6RBE8_HUMAN,B7Z6T3_HUMAN	.	UPI000007229D	SNV	TMEM161B,missense_variant,p.Phe311Leu,ENST00000296595,;TMEM161B,missense_variant,p.Phe311Leu,ENST00000514135,;TMEM161B,missense_variant,p.Phe129Leu,ENST00000506536,;TMEM161B,missense_variant,p.Phe300Leu,ENST00000512429,;TMEM161B,intron_variant,,ENST00000511218,;TMEM161B,downstream_gene_variant,,ENST00000509387,;TMEM161B,upstream_gene_variant,,ENST00000515293,;TMEM161B,3_prime_UTR_variant,,ENST00000511087,;TMEM161B,3_prime_UTR_variant,,ENST00000510089,;TMEM161B,downstream_gene_variant,,ENST00000507872,;	1058	102	136	SUCCESS
ENPP3	5169	.	GRCh37	6	131958486	131958486	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	87	160	0	ENST00000357639.3:c.-39T>A		p.*13*	ENST00000357639	NM_005021.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5148.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAATTTATT	NONE	.	.	.	.	.	ENSP00000406261	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000414305	Transcript	.	.	ENSG00000154269	3358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENPP3_HUMAN	ENPP3	HGNC	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN	.	UPI000013DD9F	SNV	ENPP3,5_prime_UTR_variant,,ENST00000427148,;ENPP3,5_prime_UTR_variant,,ENST00000357639,;ENPP3,5_prime_UTR_variant,,ENST00000543135,;ENPP3,5_prime_UTR_variant,,ENST00000414305,;ENPP3,upstream_gene_variant,,ENST00000358229,;ENPP3,upstream_gene_variant,,ENST00000470930,;ENPP3,5_prime_UTR_variant,,ENST00000427707,;ENPP3,5_prime_UTR_variant,,ENST00000423831,;	290	160	112	SUCCESS
GRM1	2911	.	GRCh37	6	146720714	146720714	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	36	83	0	ENST00000282753.1:c.2539C>G	p.Arg847Gly	p.R847G	ENST00000282753	NM_001278067.1	847	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS5209.1	2539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCCGCAGT	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060	.	.	ENSP00000354896	.	8/9	.	.	.	.	.	.	.	.	COSM3381448,COSM3381449	8/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,missense_variant,p.Arg847Gly,ENST00000282753,;GRM1,missense_variant,p.Arg847Gly,ENST00000392299,;GRM1,missense_variant,p.Arg847Gly,ENST00000361719,;GRM1,missense_variant,p.Arg847Gly,ENST00000507907,;GRM1,missense_variant,p.Arg847Gly,ENST00000355289,;GRM1,missense_variant,p.Arg847Gly,ENST00000492807,;	3009	83	47	SUCCESS
KIF13A	63971	.	GRCh37	6	17794911	17794911	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	40	0	ENST00000259711.6:c.2967A>T	p.Ile989=	p.I989=	ENST00000259711	NM_022113.5	989	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47381.1	2967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTATTCT	NONE	.	.	hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	.	.	ENSP00000259711	.	24/39	.	.	.	.	.	.	.	.	.	24/39	PASS	ENST00000259711	Transcript	.	.	ENSG00000137177	14566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI13A_HUMAN	KIF13A	HGNC	.	.	UPI0000E20DA3	SNV	KIF13A,synonymous_variant,p.%3D,ENST00000378814,;KIF13A,synonymous_variant,p.%3D,ENST00000502297,;KIF13A,synonymous_variant,p.%3D,ENST00000259711,;KIF13A,synonymous_variant,p.%3D,ENST00000378826,;KIF13A,synonymous_variant,p.%3D,ENST00000358380,;KIF13A,synonymous_variant,p.%3D,ENST00000506044,;KIF13A,synonymous_variant,p.%3D,ENST00000378843,;KIF13A,synonymous_variant,p.%3D,ENST00000378816,;KIF13A,non_coding_transcript_exon_variant,,ENST00000514714,;	3073	40	78	SUCCESS
ITPR3	3710	.	GRCh37	6	33643557	33643557	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1425382314	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	29	85	0	ENST00000374316.5:c.3206C>T	p.Pro1069Leu	p.P1069L	ENST00000374316		1069	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4783.1	3206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCCGCTGG	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	26/59	.	.	.	.	.	.	.	.	.	26/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.02)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Pro1069Leu,ENST00000374316,;ITPR3,missense_variant,p.Pro1069Leu,ENST00000605930,;	4266	85	102	SUCCESS
KLHDC3	116138	.	GRCh37	6	42986094	42986094	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1394457585	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	30	44	0	ENST00000326974.4:c.533G>A	p.Arg178His	p.R178H	ENST00000326974	NM_057161.3	178	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4880.1	533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGCTGGA	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF287,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000313995	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000326974	Transcript	.	.	ENSG00000124702	20704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	tolerated(0.46)	.	KLDC3_HUMAN	KLHDC3	HGNC	.	.	UPI0000036176	SNV	KLHDC3,missense_variant,p.Arg119His,ENST00000332245,;KLHDC3,missense_variant,p.Arg178His,ENST00000326974,;KLHDC3,missense_variant,p.Arg44His,ENST00000244670,;MEA1,upstream_gene_variant,,ENST00000244711,;RRP36,upstream_gene_variant,,ENST00000244496,;	728	44	57	SUCCESS
ZAN	7455	.	GRCh37	7	100348276	100348276	+	synonymous_variant	Silent	SNP	C	C	T	rs201666374	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	37	76	1	ENST00000546292.1:c.1278C>T	p.Asp426=	p.D426=	ENST00000546292	NM_173059.1	426	gaC/gaT	0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	.	1278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACGAGTT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_patterns:PS00740,PROSITE_profiles:PS50060	T:0	T:0.0002	ENSP00000445943	T:0.001	11/46	.	.	.	.	.	.	.	.	rs201666374	11/46	PASS	ENST00000546292	Transcript	.	T:0.0002	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	1426	77	132	SUCCESS
IQUB	154865	.	GRCh37	7	123097530	123097530	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	49	90	0	ENST00000324698.6:c.2098A>T	p.Arg700Ter	p.R700*	ENST00000324698	NM_178827.4	700	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5787.1	2098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGACCA	NONE	.	.	hmmpanther:PTHR21074:SF0,hmmpanther:PTHR21074	.	.	ENSP00000417769	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000466202	Transcript	.	.	ENSG00000164675	21995	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQUB_HUMAN	IQUB	HGNC	.	.	UPI000013E3DF	SNV	IQUB,stop_gained,p.Arg700Ter,ENST00000324698,;IQUB,stop_gained,p.Arg700Ter,ENST00000466202,;RNU6-296P,downstream_gene_variant,,ENST00000384608,;RP11-332K15.1,non_coding_transcript_exon_variant,,ENST00000419832,;IQUB,3_prime_UTR_variant,,ENST00000484508,;IQUB,3_prime_UTR_variant,,ENST00000469057,;	2675	90	115	SUCCESS
OR2F2	135948	.	GRCh37	7	143633139	143633139	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	71	84	0	ENST00000408955.2:c.815del	p.Lys272SerfsTer2	p.K272Sfs*2	ENST00000408955	NM_001004685.1	272	Aag/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS43666.1	814	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGAGAAGCTG	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453:SF63,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000386222	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408955	Transcript	.	.	ENSG00000221910	8247	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR2F2_HUMAN	OR2F2	HGNC	.	.	UPI0000041C25	deletion	OR2F2,frameshift_variant,p.Lys272SerfsTer2,ENST00000408955,;	881	84	210	SUCCESS
LRRC61	65999	.	GRCh37	7	150034126	150034126	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs748209380	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	24	0	ENST00000323078.7:c.176A>G	p.Asp59Gly	p.D59G	ENST00000323078	NM_023942.2	59	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5901.1	176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGACCTAT	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF201,Gene3D:3.80.10.10,Pfam_domain:PF12799,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000352642	.	3/3	.	.	.	.	.	.	.	.	rs748209380	3/3	PASS	ENST00000359623	Transcript	.	.	ENSG00000127399	21704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LRC61_HUMAN	LRRC61	HGNC	.	.	UPI000006F2E8	SNV	LRRC61,missense_variant,p.Asp59Gly,ENST00000359623,;LRRC61,missense_variant,p.Asp59Gly,ENST00000323078,;LRRC61,missense_variant,p.Asp59Gly,ENST00000493307,;RARRES2,downstream_gene_variant,,ENST00000482669,;RARRES2,downstream_gene_variant,,ENST00000223271,;ZBED6CL,downstream_gene_variant,,ENST00000343855,;RARRES2,downstream_gene_variant,,ENST00000467793,;RARRES2,downstream_gene_variant,,ENST00000466675,;RP4-584D14.7,upstream_gene_variant,,ENST00000563946,;RARRES2,downstream_gene_variant,,ENST00000478771,;	764	24	33	SUCCESS
DNAH11	8701	.	GRCh37	7	21757498	21757498	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	23	82	0	ENST00000409508.3:c.7089A>T	p.Thr2363=	p.T2363=	ENST00000409508	NM_001277115.1	2363	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	.	7110	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACAAGCTT	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676	.	.	ENSP00000330671	.	44/83	.	.	.	.	.	.	.	.	.	44/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,synonymous_variant,p.%3D,ENST00000328843,;DNAH11,synonymous_variant,p.%3D,ENST00000409508,;	7141	82	143	SUCCESS
WIPF3	644150	.	GRCh37	7	29874394	29874394	+	synonymous_variant	Silent	SNP	G	G	T	rs1426054215	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	34	169	0	ENST00000242140.5:c.54G>T	p.Leu18=	p.L18=	ENST00000242140		18	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS56472.1	54	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTGGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF31,hmmpanther:PTHR23202	.	.	ENSP00000386878	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000409290	Transcript	.	.	ENSG00000122574	22004	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WIPF3_HUMAN	WIPF3	HGNC	.	.	UPI00006C0B79	SNV	WIPF3,synonymous_variant,p.%3D,ENST00000409290,;WIPF3,synonymous_variant,p.%3D,ENST00000242140,;WIPF3,synonymous_variant,p.%3D,ENST00000409123,;	54	169	255	SUCCESS
PDE1C	5137	.	GRCh37	7	31855598	31855599	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	112	43	105	0	ENST00000321453.7:c.1752_1753del	p.Ser584ArgfsTer22	p.S584Rfs*22	ENST00000321453	NM_001191059.1	584	agTGac/agac	0	.	.	.	.	.	-	SD/RX	protein_coding	YES	CCDS55100.1	1932-1933	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTGTCACTTTT	NONE	.	.	.	.	.	ENSP00000379496	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PDE1C	HGNC	.	.	UPI000045753D	deletion	PDE1C,frameshift_variant,p.Ser584ArgfsTer22,ENST00000396184,;PDE1C,frameshift_variant,p.Ser584ArgfsTer22,ENST00000396191,;PDE1C,frameshift_variant,p.Ser644ArgfsTer22,ENST00000396193,;PDE1C,frameshift_variant,p.Ser584ArgfsTer22,ENST00000321453,;PDE1C,frameshift_variant,p.Ser584ArgfsTer22,ENST00000396182,;PDE1C,non_coding_transcript_exon_variant,,ENST00000479980,;	2526-2527	105	155	SUCCESS
BLVRA	644	.	GRCh37	7	43840096	43840096	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	77	1	ENST00000265523.4:c.385T>A	p.Leu129Met	p.L129M	ENST00000265523	NM_000712.3	129	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS5472.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTTGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22604:SF14,hmmpanther:PTHR22604,Gene3D:3.40.50.720,PIRSF_domain:PIRSF037032,Superfamily_domains:SSF51735	.	.	ENSP00000385757	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000402924	Transcript	.	.	ENSG00000106605	1062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0.04)	.	BIEA_HUMAN	BLVRA	HGNC	C9J1E1_HUMAN	.	UPI0000126937	SNV	BLVRA,missense_variant,p.Leu129Met,ENST00000265523,;BLVRA,missense_variant,p.Leu129Met,ENST00000402924,;BLVRA,non_coding_transcript_exon_variant,,ENST00000486984,;	548	78	101	SUCCESS
ZNF479	90827	.	GRCh37	7	57194367	57194367	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	257	103	268	0	ENST00000331162.4:c.98T>A	p.Leu33Gln	p.L33Q	ENST00000331162	NM_033273.1	33	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS43590.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAGGCAT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000333776	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,missense_variant,p.Leu33Gln,ENST00000331162,;	369	268	361	SUCCESS
RABGEF1	27342	.	GRCh37	7	66270375	66270375	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	47	0	ENST00000284957.5:c.1069A>T	p.Thr357Ser	p.T357S	ENST00000284957	NM_001287062.1	357	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS5535.1	1069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCACCAAT	NONE	.	.	Superfamily_domains:0044157,SMART_domains:SM00167,Pfam_domain:PF02204,hmmpanther:PTHR23101:SF49,hmmpanther:PTHR23101,PROSITE_profiles:PS51205	.	.	ENSP00000421124	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000510829	Transcript	.	.	ENSG00000243335	21957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	.	KCTD7	HGNC	C9JDA2_HUMAN,B3KMF1_HUMAN	.	UPI00000730D5	SNV	KCTD7,missense_variant,p.Thr397Ser,ENST00000380828,;RABGEF1,missense_variant,p.Thr371Ser,ENST00000437078,;RABGEF1,missense_variant,p.Thr357Ser,ENST00000284957,;KCTD7,missense_variant,p.Thr357Ser,ENST00000451741,;RABGEF1,missense_variant,p.Thr370Ser,ENST00000439720,;KCTD7,missense_variant,p.Thr357Ser,ENST00000510829,;RABGEF1,missense_variant,p.Thr357Ser,ENST00000450873,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000461017,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000484547,;GTF2IRD1P1,downstream_gene_variant,,ENST00000457166,;RABGEF1,3_prime_UTR_variant,,ENST00000607882,;KCTD7,3_prime_UTR_variant,,ENST00000503687,;	1223	47	75	SUCCESS
WBSCR17	0	.	GRCh37	7	71142287	71142287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	51	59	0	ENST00000333538.5:c.1496C>A	p.Pro499Gln	p.P499Q	ENST00000333538	NM_022479.2	499	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS5540.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCACAGG	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000329654	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Pro499Gln,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	2130	59	93	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72420826	72420826	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	37	0	ENST00000388955.4:n.704-91T>C		p.*235*	ENST00000388955				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59059.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCACAGCT	NONE	.	.	.	.	.	ENSP00000378687	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,3_prime_UTR_variant,,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000446813,;POM121,downstream_gene_variant,,ENST00000257622,;POM121,downstream_gene_variant,,ENST00000434423,;POM121,downstream_gene_variant,,ENST00000358357,;NSUN5P2,intron_variant,,ENST00000388955,;NSUN5P2,intron_variant,,ENST00000602348,;NSUN5P2,intron_variant,,ENST00000444583,;NSUN5P2,intron_variant,,ENST00000485741,;NSUN5P2,intron_variant,,ENST00000457352,;	5858	37	50	SUCCESS
PCLO	27445	.	GRCh37	7	82582709	82582709	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	83	1	ENST00000333891.9:c.7560A>T	p.Pro2520=	p.P2520=	ENST00000333891	NM_033026.5	2520	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47630.1	7560	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTTGGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7898	84	110	SUCCESS
COL1A2	1278	.	GRCh37	7	94029552	94029552	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	63	74	0	ENST00000297268.6:c.177A>T	p.Thr59=	p.T59=	ENST00000297268	NM_000089.3	59	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34682.1	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441,Pfam_domain:PF01391	.	.	ENSP00000297268	.	5/52	.	.	.	.	.	.	.	.	.	5/52	PASS	ENST00000297268	Transcript	.	.	ENSG00000164692	2198	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO1A2_HUMAN	COL1A2	HGNC	Q75N18_HUMAN,A2TIK1_HUMAN	.	UPI00003B0CFC	SNV	COL1A2,synonymous_variant,p.%3D,ENST00000297268,;	648	74	116	SUCCESS
TRMT12	55039	.	GRCh37	8	125464081	125464081	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	42	0	ENST00000328599.3:c.913A>T	p.Arg305Trp	p.R305W	ENST00000328599	NM_017956.3	305	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6349.1	913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATAGGGTG	NONE	.	.	PROSITE_profiles:PS51684,hmmpanther:PTHR23245:SF33,hmmpanther:PTHR23245,Gene3D:3.40.50.150,Pfam_domain:PF02475,Superfamily_domains:SSF53335	.	.	ENSP00000329858	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328599	Transcript	.	.	ENSG00000183665	26091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TYW2_HUMAN	TRMT12	HGNC	.	.	UPI0000140A61	SNV	TRMT12,missense_variant,p.Arg305Trp,ENST00000328599,;TRMT12,intron_variant,,ENST00000521443,;TRMT12,intron_variant,,ENST00000522518,;	1034	42	59	SUCCESS
ZNF7	7553	.	GRCh37	8	146066877	146066877	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	6	58	0	ENST00000528372.1:c.385G>T	p.Glu129Ter	p.E129*	ENST00000528372		129	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS6435.1	385	MUTECT|MUSE|VARSCANS	.	ATTCTGAGGTC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189	.	.	ENSP00000432724	.	5/5	.	.	.	.	.	.	.	.	COSM1635698	5/5	PASS	ENST00000528372	Transcript	.	.	ENSG00000147789	13139	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ZNF7_HUMAN	ZNF7	HGNC	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN	.	UPI000013C3F8	SNV	ZNF7,stop_gained,p.Glu129Ter,ENST00000528372,;ZNF7,stop_gained,p.Glu140Ter,ENST00000446747,;ZNF7,stop_gained,p.Glu129Ter,ENST00000325241,;ZNF7,stop_gained,p.Glu129Ter,ENST00000532777,;ZNF7,stop_gained,p.Glu33Ter,ENST00000544249,;ZNF7,stop_gained,p.Glu128Ter,ENST00000527218,;ZNF7,intron_variant,,ENST00000325217,;ZNF7,intron_variant,,ENST00000525266,;ZNF7,intron_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,non_coding_transcript_exon_variant,,ENST00000530776,;ZNF7,non_coding_transcript_exon_variant,,ENST00000532393,;ZNF7,downstream_gene_variant,,ENST00000532051,;COMMD5,3_prime_UTR_variant,,ENST00000530332,;ZNF7,non_coding_transcript_exon_variant,,ENST00000529767,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;	625	58	75	SUCCESS
KCNB2	9312	.	GRCh37	8	73480433	73480433	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	70	0	ENST00000523207.1:c.464A>T	p.Glu155Val	p.E155V	ENST00000523207	NM_004770.2	155	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6209.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGAGGCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110	.	.	ENSP00000430846	.	2/3	.	.	.	.	.	.	.	.	COSM1132698	2/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.688)	.	deleterious(0.05)	1	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Glu155Val,ENST00000523207,;	1052	70	97	SUCCESS
COL15A1	1306	.	GRCh37	9	101777823	101777823	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	22	42	0	ENST00000375001.3:c.1478T>C	p.Met493Thr	p.M493T	ENST00000375001	NM_001855.4	493	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS35081.1	1478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATGGCCC	NONE	.	.	hmmpanther:PTHR24023:SF398,hmmpanther:PTHR24023	.	.	ENSP00000364140	.	10/42	.	.	.	.	.	.	.	.	.	10/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.43)	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,missense_variant,p.Met493Thr,ENST00000375001,;	1901	42	27	SUCCESS
USP20	10868	.	GRCh37	9	132636872	132636872	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	41	88	0	ENST00000315480.4:c.1758A>T	p.Leu586=	p.L586=	ENST00000315480		586	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43892.1	1758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTAAAGCG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000313811	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,synonymous_variant,p.%3D,ENST00000372429,;USP20,synonymous_variant,p.%3D,ENST00000358355,;USP20,synonymous_variant,p.%3D,ENST00000315480,;USP20,intron_variant,,ENST00000474895,;USP20,upstream_gene_variant,,ENST00000496927,;USP20,downstream_gene_variant,,ENST00000491731,;USP20,upstream_gene_variant,,ENST00000472108,;	1916	88	57	SUCCESS
DENND4C	55667	.	GRCh37	9	19316784	19316784	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	60	0	ENST00000602925.1:c.1754C>T	p.Thr585Ile	p.T585I	ENST00000602925	NM_017925.5	585	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS6491.3	1754	RADIA|MUTECT|MUSE|VARSCANS	.	AATCACAGAGG	NONE	.	.	PROSITE_profiles:PS50947,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17,Pfam_domain:PF03455,SMART_domains:SM00801	.	.	ENSP00000473565	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.923)	.	deleterious(0.02)	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,missense_variant,p.Thr349Ile,ENST00000380432,;DENND4C,missense_variant,p.Thr585Ile,ENST00000434457,;DENND4C,missense_variant,p.Thr585Ile,ENST00000602925,;DENND4C,missense_variant,p.Thr358Ile,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	2170	60	52	SUCCESS
ASPN	54829	.	GRCh37	9	95232978	95232978	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	38	91	0	ENST00000375544.3:c.360T>A	p.Asn120Lys	p.N120K	ENST00000375544	NM_017680.4	120	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	.	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCATTTTC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF10,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	.	ENSP00000364694	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000375544	Transcript	.	.	ENSG00000106819	14872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.13)	.	ASPN_HUMAN	ASPN	HGNC	Q6P528_HUMAN	.	UPI000013C839	SNV	ASPN,missense_variant,p.Asn120Lys,ENST00000375544,;ASPN,missense_variant,p.Asn120Lys,ENST00000395538,;ASPN,missense_variant,p.Asn120Lys,ENST00000375543,;CENPP,intron_variant,,ENST00000375587,;ASPN,downstream_gene_variant,,ENST00000450139,;	604	91	64	SUCCESS
WNK2	65268	.	GRCh37	9	96079849	96079849	+	synonymous_variant	Silent	SNP	G	G	A	rs756768259	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	40	0	ENST00000297954.4:c.6675G>A	p.Ala2225=	p.A2225=	ENST00000297954	NM_001282394.1	2225	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	.	6675	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGCCCGG	NONE	.	.	.	.	.	ENSP00000297954	.	29/30	.	.	.	.	.	.	.	.	rs756768259,COSM3413834,COSM3413833,COSM3413835,COSM3413836	29/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,synonymous_variant,p.%3D,ENST00000432730,;WNK2,synonymous_variant,p.%3D,ENST00000427277,;WNK2,synonymous_variant,p.%3D,ENST00000349097,;WNK2,synonymous_variant,p.%3D,ENST00000411624,;WNK2,synonymous_variant,p.%3D,ENST00000297954,;WNK2,synonymous_variant,p.%3D,ENST00000448251,;WNK2,synonymous_variant,p.%3D,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,3_prime_UTR_variant,,ENST00000356055,;C9orf129,downstream_gene_variant,,ENST00000375419,;WNK2,non_coding_transcript_exon_variant,,ENST00000471076,;WNK2,non_coding_transcript_exon_variant,,ENST00000467401,;	6675	40	21	SUCCESS
GPRASP2	114928	.	GRCh37	X	101970491	101970491	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1373551707	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	63	0	ENST00000332262.5:c.694A>G	p.Thr232Ala	p.T232A	ENST00000332262	NM_138437.5	232	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14501.1	694	MUTECT|MUSE	.	CCTCTACAGCG	NONE	.	.	hmmpanther:PTHR15712:SF10,hmmpanther:PTHR15712	.	.	ENSP00000437872	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000543253	Transcript	.	.	ENSG00000158301	25169	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.53)	.	GASP2_HUMAN	GPRASP2	HGNC	.	.	UPI000006F01A	SNV	GPRASP2,missense_variant,p.Thr232Ala,ENST00000535209,;GPRASP2,missense_variant,p.Thr232Ala,ENST00000332262,;GPRASP2,missense_variant,p.Thr232Ala,ENST00000543253,;GPRASP2,downstream_gene_variant,,ENST00000483720,;RP4-769N13.6,downstream_gene_variant,,ENST00000602366,;RP4-769N13.6,downstream_gene_variant,,ENST00000486740,;RP4-769N13.6,downstream_gene_variant,,ENST00000602463,;GPRASP2,downstream_gene_variant,,ENST00000486814,;	1613	63	85	SUCCESS
GABRA3	2556	.	GRCh37	X	151336877	151336877	+	synonymous_variant	Silent	SNP	G	G	C	rs745674121	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	64	122	0	ENST00000370314.4:c.1302C>G	p.Pro434=	p.P434=	ENST00000370314	NM_000808.3	434	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS14706.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGGGTGA	NONE	byFrequency	.	Prints_domain:PR01616,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945	.	.	ENSP00000359337	.	10/10	.	.	.	.	.	.	.	.	rs745674121	10/10	PASS	ENST00000370314	Transcript	.	.	ENSG00000011677	4077	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA3_HUMAN	GABRA3	HGNC	.	.	UPI000002D730	SNV	GABRA3,synonymous_variant,p.%3D,ENST00000535043,;GABRA3,synonymous_variant,p.%3D,ENST00000370314,;RP11-329E24.6,intron_variant,,ENST00000453915,;	1541	122	255	SUCCESS
MECP2	4204	.	GRCh37	X	153295883	153295883	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	42	0	ENST00000303391.6:c.1396A>T	p.Met466Leu	p.M466L	ENST00000303391	NM_004992.3	466	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS48193.1	1432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATGGAGG	NONE	.	.	hmmpanther:PTHR15074:SF1,hmmpanther:PTHR15074,PIRSF_domain:PIRSF038006	.	.	ENSP00000395535	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000453960	Transcript	.	.	ENSG00000169057	6990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.45)	.	MECP2_HUMAN	MECP2	HGNC	.	.	UPI0000253F1B	SNV	MECP2,missense_variant,p.Met466Leu,ENST00000303391,;MECP2,missense_variant,p.Met478Leu,ENST00000453960,;MECP2,downstream_gene_variant,,ENST00000407218,;MECP2,downstream_gene_variant,,ENST00000415944,;MECP2,downstream_gene_variant,,ENST00000488293,;MECP2,downstream_gene_variant,,ENST00000460227,;MECP2,downstream_gene_variant,,ENST00000486506,;MECP2,downstream_gene_variant,,ENST00000496908,;MECP2,downstream_gene_variant,,ENST00000481807,;MECP2,downstream_gene_variant,,ENST00000463644,;MECP2,downstream_gene_variant,,ENST00000369957,;	1487	42	108	SUCCESS
DNASE1L1	1774	.	GRCh37	X	153637534	153637534	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	26	0	ENST00000014935.3:c.-172-2A>T		p.X58_splice	ENST00000014935		58		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTAGGAG	NONE	.	.	.	.	.	ENSP00000358824	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369809	Transcript	.	.	ENSG00000013563	2957	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNSL1_HUMAN	DNASE1L1	HGNC	Q5HY40_HUMAN,A6QRJ0_HUMAN,A3KQT1_HUMAN	.	UPI0000129891	SNV	DNASE1L1,splice_acceptor_variant,,ENST00000432135,;DNASE1L1,splice_acceptor_variant,,ENST00000309585,;DNASE1L1,splice_acceptor_variant,,ENST00000369809,;DNASE1L1,splice_acceptor_variant,,ENST00000424626,;DNASE1L1,splice_acceptor_variant,,ENST00000014935,;DNASE1L1,5_prime_UTR_variant,,ENST00000369808,;DNASE1L1,5_prime_UTR_variant,,ENST00000369807,;DNASE1L1,intron_variant,,ENST00000393638,;DNASE1L1,intron_variant,,ENST00000451865,;TAZ,upstream_gene_variant,,ENST00000475699,;TAZ,upstream_gene_variant,,ENST00000439735,;DNASE1L1,upstream_gene_variant,,ENST00000447892,;TAZ,upstream_gene_variant,,ENST00000351413,;TAZ,upstream_gene_variant,,ENST00000350743,;TAZ,upstream_gene_variant,,ENST00000426834,;DNASE1L1,upstream_gene_variant,,ENST00000412184,;TAZ,upstream_gene_variant,,ENST00000369776,;TAZ,upstream_gene_variant,,ENST00000369790,;RPL10,downstream_gene_variant,,ENST00000428169,;TAZ,upstream_gene_variant,,ENST00000299328,;TAZ,upstream_gene_variant,,ENST00000454722,;TAZ,upstream_gene_variant,,ENST00000470127,;TAZ,upstream_gene_variant,,ENST00000479875,;TAZ,upstream_gene_variant,,ENST00000465540,;TAZ,upstream_gene_variant,,ENST00000369793,;TAZ,upstream_gene_variant,,ENST00000445994,;TAZ,upstream_gene_variant,,ENST00000433313,;TAZ,upstream_gene_variant,,ENST00000476679,;TAZ,upstream_gene_variant,,ENST00000476307,;TAZ,upstream_gene_variant,,ENST00000480812,;TAZ,upstream_gene_variant,,ENST00000483780,;TAZ,upstream_gene_variant,,ENST00000426231,;TAZ,upstream_gene_variant,,ENST00000455296,;TAZ,upstream_gene_variant,,ENST00000483674,;TAZ,upstream_gene_variant,,ENST00000476800,;	.	26	67	SUCCESS
PHEX	5251	.	GRCh37	X	22056646	22056646	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	26	36	0	ENST00000379374.4:c.178A>C	p.Ile60Leu	p.I60L	ENST00000379374	NM_000444.4	60	Atc/Ctc	0	.	.	.	.	.	C	I/L	protein_coding	YES	CCDS14204.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCATCGAA	NONE	.	.	Superfamily_domains:SSF55486,hmmpanther:PTHR11733:SF117,hmmpanther:PTHR11733	.	.	ENSP00000368682	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000379374	Transcript	.	.	ENSG00000102174	8918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.05)	.	PHEX_HUMAN	PHEX	HGNC	D1LZJ7_HUMAN,B4DWG8_HUMAN	.	UPI0000033C42	SNV	PHEX,missense_variant,p.Ile60Leu,ENST00000379374,;PHEX,missense_variant,p.Ile60Leu,ENST00000537599,;PHEX,5_prime_UTR_variant,,ENST00000535894,;	743	36	36	SUCCESS
KLHL15	80311	.	GRCh37	X	24006693	24006693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	84	87	0	ENST00000328046.8:c.1160G>T	p.Arg387Ile	p.R387I	ENST00000328046	NM_030624.2	387	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS35217.1	1160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTCTGCCT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF61,Gene3D:1zgkA00,Pfam_domain:PF01344,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000332791	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328046	Transcript	.	.	ENSG00000174010	29347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	KLH15_HUMAN	KLHL15	HGNC	.	.	UPI000019832F	SNV	KLHL15,missense_variant,p.Arg387Ile,ENST00000328046,;	1416	87	94	SUCCESS
DCAF8L1	139425	.	GRCh37	X	27999289	27999289	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs748450249	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	89	88	0	ENST00000441525.1:c.163A>T	p.Arg55Trp	p.R55W	ENST00000441525	NM_001017930.1	55	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS35222.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGGTAT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000405222	.	1/1	.	.	.	.	.	.	.	.	rs748450249	1/1	PASS	ENST00000441525	Transcript	.	.	ENSG00000226372	31810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	deleterious(0.02)	.	DC8L1_HUMAN	DCAF8L1	HGNC	.	.	UPI000022DD1B	SNV	DCAF8L1,missense_variant,p.Arg55Trp,ENST00000441525,;	278	88	104	SUCCESS
TAB3	257397	.	GRCh37	X	30870987	30870987	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	31	0	ENST00000378933.1:c.1618C>T	p.Leu540=	p.L540=	ENST00000378933	NM_152787.3	540	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14226.1	1618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTAGCTCCT	NONE	.	.	hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000368215	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000378933	Transcript	.	.	ENSG00000157625	30681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAB3_HUMAN	TAB3	HGNC	.	.	UPI000013DF10	SNV	TAB3,synonymous_variant,p.%3D,ENST00000378930,;TAB3,synonymous_variant,p.%3D,ENST00000288422,;TAB3,synonymous_variant,p.%3D,ENST00000378932,;TAB3,synonymous_variant,p.%3D,ENST00000378933,;TAB3,5_prime_UTR_variant,,ENST00000378928,;TAB3-AS2,upstream_gene_variant,,ENST00000445240,;TAB3,synonymous_variant,p.%3D,ENST00000467136,;	1796	31	39	SUCCESS
CCNB3	85417	.	GRCh37	X	50053768	50053768	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	89	81	0	ENST00000276014.7:c.2599A>T	p.Ser867Cys	p.S867C	ENST00000276014	NM_033031.2	867	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS14331.1	2599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGCATT	NONE	.	.	.	.	.	ENSP00000365210	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000376042	Transcript	.	.	ENSG00000147082	18709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0.02)	.	CCNB3_HUMAN	CCNB3	HGNC	Q8WTR6_HUMAN	.	UPI000022DC76	SNV	CCNB3,missense_variant,p.Ser867Cys,ENST00000376042,;CCNB3,missense_variant,p.Ser867Cys,ENST00000276014,;CCNB3,intron_variant,,ENST00000348603,;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000476167,;	2897	81	105	SUCCESS
PCDH11X	27328	.	GRCh37	X	91132752	91132752	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	161	145	2	ENST00000373094.1:c.1513C>A	p.Leu505Ile	p.L505I	ENST00000373094	NM_032968.3	505	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS14461.1	1513	RADIA|SOMATICSNIPER|VARSCANS	.	ACCTGCTAGGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	.	.	ENSP00000362186	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.85)	.	tolerated(0.16)	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,missense_variant,p.Leu505Ile,ENST00000373088,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000361724,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000395337,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000298274,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000504220,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000406881,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000373094,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000373097,;PCDH11X,missense_variant,p.Leu505Ile,ENST00000361655,;	2358	147	199	SUCCESS
HKDC1	80201	.	GRCh37	10	71025434	71025434	+	synonymous_variant	Silent	SNP	C	C	T	rs373165480	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	83	0	ENST00000354624.5:c.2466C>T	p.Cys822=	p.C822=	ENST00000354624	NM_025130.3	822	tgC/tgT	0	.	T:0	.	T:0	.	T	C	protein_coding	YES	CCDS7288.1	2466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCGGAGC	NONE	byCluster|by1000G	.	Prints_domain:PR00475,Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12	T:0	.	ENSP00000346643	T:0	17/18	.	.	.	.	.	.	.	.	rs373165480	17/18	PASS	ENST00000354624	Transcript	.	T:0.0002	ENSG00000156510	23302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	HKDC1_HUMAN	HKDC1	HGNC	.	.	UPI00003666D2	SNV	HKDC1,synonymous_variant,p.%3D,ENST00000354624,;HK1,upstream_gene_variant,,ENST00000448642,;HK1,upstream_gene_variant,,ENST00000450646,;HK1,upstream_gene_variant,,ENST00000360289,;HKDC1,downstream_gene_variant,,ENST00000395086,;RP11-227H15.5,non_coding_transcript_exon_variant,,ENST00000413220,;HKDC1,downstream_gene_variant,,ENST00000470920,;HK1,upstream_gene_variant,,ENST00000483077,;HK1,upstream_gene_variant,,ENST00000480047,;HK1,upstream_gene_variant,,ENST00000479594,;HK1,upstream_gene_variant,,ENST00000476368,;HK1,upstream_gene_variant,,ENST00000464803,;	2599	83	70	SUCCESS
LARP4B	23185	.	GRCh37	10	859073	859073	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	69	0	ENST00000316157.3:c.2010del	p.Glu671AsnfsTer82	p.E671Nfs*82	ENST00000316157	NM_015155.2	670	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS31131.1	2010	VARSCANI*|PINDEL	.	TTGTTCTTTTTG	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43	.	.	ENSP00000326128	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000316157	Transcript	.	.	ENSG00000107929	28987	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAR4B_HUMAN	LARP4B	HGNC	B5MCU2_HUMAN	.	UPI00001F8C87	deletion	LARP4B,frameshift_variant,p.Glu671AsnfsTer82,ENST00000316157,;LARP4B,frameshift_variant,p.Glu272AsnfsTer82,ENST00000448368,;LARP4B,downstream_gene_variant,,ENST00000440895,;LARP4B,downstream_gene_variant,,ENST00000469487,;LARP4B,non_coding_transcript_exon_variant,,ENST00000609318,;LARP4B,downstream_gene_variant,,ENST00000608970,;	2051	69	37	SUCCESS
GRID1	2894	.	GRCh37	10	87362151	87362151	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	135	0	ENST00000327946.7:c.2909C>A	p.Ser970Ter	p.S970*	ENST00000327946	NM_017551.2	970	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS31236.1	2909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGACCTG	NONE	.	.	.	.	.	ENSP00000330148	.	16/16	.	.	.	.	.	.	.	.	COSM3441139	16/16	PASS	ENST00000327946	Transcript	.	.	ENSG00000182771	4575	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GRID1_HUMAN	GRID1	HGNC	B7Z7L0_HUMAN	.	UPI00001D8051	SNV	GRID1,stop_gained,p.Ser541Ter,ENST00000536331,;GRID1,stop_gained,p.Ser970Ter,ENST00000327946,;RP11-93H12.2,upstream_gene_variant,,ENST00000443311,;GRID1,non_coding_transcript_exon_variant,,ENST00000552278,;GRID1,3_prime_UTR_variant,,ENST00000464741,;	2995	135	76	SUCCESS
ANO9	338440	.	GRCh37	11	428795	428795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	55	0	ENST00000332826.6:c.947C>T	p.Pro316Leu	p.P316L	ENST00000332826	NM_001012302.2	316	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31326.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCGGGGCAG	NONE	.	.	hmmpanther:PTHR12308:SF27,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000332788	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000332826	Transcript	.	.	ENSG00000185101	20679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	tolerated(0.53)	.	ANO9_HUMAN	ANO9	HGNC	.	.	UPI00001D782B	SNV	ANO9,missense_variant,p.Pro316Leu,ENST00000332826,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;ANO9,downstream_gene_variant,,ENST00000525857,;	1032	55	38	SUCCESS
OR5D18	219438	.	GRCh37	11	55587833	55587833	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	80	0	ENST00000333976.4:c.728C>T	p.Ala243Val	p.A243V	ENST00000333976	NM_001001952.1	243	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31510.1	728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCCTCCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.35)	.	deleterious(0.03)	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Ala243Val,ENST00000333976,;	748	80	66	SUCCESS
OR5B12	390191	.	GRCh37	11	58207024	58207024	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	41	99	0	ENST00000302572.2:c.601G>T	p.Val201Leu	p.V201L	ENST00000302572	NM_001004733.2	201	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS31551.1	601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCACCACAA	BUFFER|p.F199fs*13|c.597delT|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306657	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302572	Transcript	.	.	ENSG00000172362	15432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated_low_confidence(0.11)	.	OR5BC_HUMAN	OR5B12	HGNC	.	.	UPI00000015B2	SNV	OR5B12,missense_variant,p.Val201Leu,ENST00000302572,;	623	99	89	SUCCESS
OR5B12	390191	.	GRCh37	11	58207025	58207025	+	synonymous_variant	Silent	SNP	C	C	A	rs760625735	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	41	98	0	ENST00000302572.2:c.600G>T	p.Val200=	p.V200=	ENST00000302572	NM_001004733.2	200	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS31551.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCACAAA	BUFFER|p.F199fs*13|c.597delT|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306657	.	1/1	.	.	.	.	.	.	.	.	rs760625735	1/1	PASS	ENST00000302572	Transcript	.	.	ENSG00000172362	15432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5BC_HUMAN	OR5B12	HGNC	.	.	UPI00000015B2	SNV	OR5B12,synonymous_variant,p.%3D,ENST00000302572,;	622	98	91	SUCCESS
SYT9	143425	.	GRCh37	11	7273526	7273526	+	synonymous_variant	Silent	SNP	C	C	T	rs146068689	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	47	0	ENST00000318881.6:c.109C>T	p.Leu37=	p.L37=	ENST00000318881	NM_175733.3	37	Ctg/Ttg	0	G:0	.	.	.	.	T	L	protein_coding	YES	CCDS7778.1	109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCTGCGG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF174	.	G:0.0001	ENSP00000324419	.	1/7	.	.	.	.	.	.	.	.	rs146068689	1/7	PASS	ENST00000318881	Transcript	.	.	ENSG00000170743	19265	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT9_HUMAN	SYT9	HGNC	.	.	UPI000000DB7B	SNV	SYT9,synonymous_variant,p.%3D,ENST00000318881,;SYT9,intron_variant,,ENST00000396716,;SYT9,synonymous_variant,p.%3D,ENST00000532592,;SYT9,intron_variant,,ENST00000524820,;	346	47	52	SUCCESS
GCN1L1	0	.	GRCh37	12	120580319	120580320	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	76	31	78	0	ENST00000300648.6:c.5820dup	p.Lys1941Ter	p.K1941*	ENST00000300648	NM_006836.1	1940	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS41847.1	5820-5821	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCTTATCTG	NONE	.	.	Superfamily_domains:SSF48371,Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	44/58	.	.	.	.	.	.	.	.	.	44/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	insertion	GCN1L1,frameshift_variant,p.Lys1941Ter,ENST00000300648,;GCN1L1,upstream_gene_variant,,ENST00000547263,;	5833-5834	78	107	SUCCESS
FZD10	11211	.	GRCh37	12	130648395	130648395	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767243203	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	24	0	ENST00000229030.4:c.908G>A	p.Gly303Glu	p.G303E	ENST00000229030		303	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS9267.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGACTGG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	rs767243203	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,missense_variant,p.Gly303Glu,ENST00000229030,;FZD10,synonymous_variant,p.%3D,ENST00000539839,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	1392	24	16	SUCCESS
VWF	7450	.	GRCh37	12	6125791	6125791	+	synonymous_variant	Silent	SNP	C	C	T	rs1241259684	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	95	0	ENST00000261405.5:c.5202G>A	p.Gln1734=	p.Q1734=	ENST00000261405	NM_000552.3	1734	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8539.1	5202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATACTGCAG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000261405	.	30/52	.	.	.	.	.	.	.	.	.	30/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,synonymous_variant,p.%3D,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;	5457	95	102	SUCCESS
HNRNPC	3183	.	GRCh37	14	21681136	21681136	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	99	1	ENST00000420743.2:c.545C>T	p.Ser182Phe	p.S182F	ENST00000420743		182	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS41915.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGATCCC	NONE	.	.	PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,Low_complexity_(Seg):seg	.	.	ENSP00000319690	.	5/8	.	.	.	.	.	.	.	.	COSM3814456	5/8	PASS	ENST00000320084	Transcript	.	.	ENSG00000092199	5035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.535)	.	deleterious(0.03)	1	HNRPC_HUMAN	HNRNPC	HGNC	G3V575_HUMAN,G3V555_HUMAN,G3V4M8_HUMAN,G3V2H6_HUMAN	.	UPI000013C6E4	SNV	HNRNPC,missense_variant,p.Ser169Phe,ENST00000554969,;HNRNPC,missense_variant,p.Ser102Phe,ENST00000556628,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000336053,;HNRNPC,missense_variant,p.Ser66Phe,ENST00000554539,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000556513,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000553753,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000556897,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000553300,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000556142,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000555309,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000554383,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000554455,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000555914,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000557201,;HNRNPC,missense_variant,p.Ser90Phe,ENST00000557157,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000420743,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000555215,;HNRNPC,missense_variant,p.Ser182Phe,ENST00000320084,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000430246,;HNRNPC,missense_variant,p.Ser169Phe,ENST00000449098,;HNRNPC,intron_variant,,ENST00000555883,;HNRNPC,downstream_gene_variant,,ENST00000555137,;HNRNPC,downstream_gene_variant,,ENST00000554891,;HNRNPC,missense_variant,p.Leu142Phe,ENST00000557442,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000554417,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000555585,;HNRNPC,upstream_gene_variant,,ENST00000553444,;	785	100	60	SUCCESS
NPAS3	64067	.	GRCh37	14	33684417	33684417	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	88	0	ENST00000356141.4:c.170G>T	p.Arg57Leu	p.R57L	ENST00000356141		57	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS53891.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGAGATG	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000348460	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	deleterious(0)	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,missense_variant,p.Arg27Leu,ENST00000548645,;NPAS3,missense_variant,p.Arg64Leu,ENST00000551492,;NPAS3,missense_variant,p.Arg27Leu,ENST00000357798,;NPAS3,missense_variant,p.Arg57Leu,ENST00000356141,;NPAS3,missense_variant,p.Arg34Leu,ENST00000551634,;NPAS3,missense_variant,p.Arg27Leu,ENST00000346562,;NPAS3,missense_variant,p.Arg57Leu,ENST00000341321,;NPAS3,5_prime_UTR_variant,,ENST00000547068,;NPAS3,upstream_gene_variant,,ENST00000546849,;NPAS3,upstream_gene_variant,,ENST00000551008,;NPAS3,non_coding_transcript_exon_variant,,ENST00000549770,;	170	88	88	SUCCESS
FSCB	84075	.	GRCh37	14	44976362	44976362	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	72	0	ENST00000340446.4:c.-172C>T		p.*58*	ENST00000340446	NM_032135.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9679.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTAGGTGTC	NONE	.	.	.	.	.	ENSP00000344579	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340446	Transcript	.	.	ENSG00000189139	20494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSCB_HUMAN	FSCB	HGNC	.	.	UPI00001FD466	SNV	FSCB,5_prime_UTR_variant,,ENST00000340446,;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	121	72	58	SUCCESS
OTX2	5015	.	GRCh37	14	57268479	57268479	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	96	0	ENST00000408990.3:c.844T>A	p.Ser282Thr	p.S282T	ENST00000408990		282	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS9728.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGATGTCT	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF131	.	.	ENSP00000343819	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000339475	Transcript	.	.	ENSG00000165588	8522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.04)	.	OTX2_HUMAN	OTX2	HGNC	G3V3P9_HUMAN,F1T0D1_HUMAN	.	UPI000000161B	SNV	OTX2,missense_variant,p.Ser290Thr,ENST00000339475,;OTX2,missense_variant,p.Ser282Thr,ENST00000408990,;OTX2,missense_variant,p.Ser282Thr,ENST00000555006,;OTX2,downstream_gene_variant,,ENST00000554845,;OTX2,downstream_gene_variant,,ENST00000554559,;OTX2,downstream_gene_variant,,ENST00000555804,;OTX2,downstream_gene_variant,,ENST00000554788,;RP11-1085N6.6,upstream_gene_variant,,ENST00000602485,;	1145	96	69	SUCCESS
RAB15	376267	.	GRCh37	14	65417612	65417612	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	22	0	ENST00000533601.2:c.324+180T>C		p.*108*	ENST00000533601				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9768.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATAGAGAG	NONE	.	.	.	.	.	ENSP00000267512	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000267512	Transcript	.	.	ENSG00000139998	20150	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB15_HUMAN	RAB15	HGNC	Q6MZX6_HUMAN,G5EMR7_HUMAN	.	UPI00001C1D4D	SNV	RAB15,3_prime_UTR_variant,,ENST00000436278,;RAB15,intron_variant,,ENST00000533601,;FNTB,intron_variant,,ENST00000447296,;RAB15,intron_variant,,ENST00000426039,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1-FNTB,intron_variant,,ENST00000553743,;RAB15,intron_variant,,ENST00000554593,;RAB15,intron_variant,,ENST00000267512,;FNTB,intron_variant,,ENST00000542227,;RAB15,3_prime_UTR_variant,,ENST00000585059,;CHURC1-FNTB,intron_variant,,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;RAB15,upstream_gene_variant,,ENST00000555256,;	.	22	23	SUCCESS
CYFIP1	23191	.	GRCh37	15	22955997	22955997	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	23	0	ENST00000313077.7:c.1675-441A>C		p.*559*	ENST00000313077	NM_014608.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10009.1	.	MUTECT|MUSE	.	GACTAACGTCT	NONE	.	.	.	.	.	ENSP00000324549	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313077	Transcript	.	.	ENSG00000068793	13759	.	.	MODIFIER	15/30	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CYFP1_HUMAN	CYFIP1	HGNC	H0YLJ5_HUMAN,H0YL39_HUMAN	.	UPI0000163A89	SNV	CYFIP1,5_prime_UTR_variant,,ENST00000435939,;CYFIP1,intron_variant,,ENST00000557859,;CYFIP1,intron_variant,,ENST00000560848,;CYFIP1,intron_variant,,ENST00000313077,;CYFIP1,intron_variant,,ENST00000558549,;CYFIP1,upstream_gene_variant,,ENST00000558826,;CYFIP1,upstream_gene_variant,,ENST00000561296,;	.	23	15	SUCCESS
UBE3A	7337	.	GRCh37	15	25616615	25616615	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	26	55	0	ENST00000397954.2:c.715A>G	p.Ile239Val	p.I239V	ENST00000397954		239	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45192.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAATGGCAT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,PIRSF_domain:PIRSF037201	.	.	ENSP00000381045	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000397954	Transcript	1	.	ENSG00000114062	12496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	UBE3A_HUMAN	UBE3A	HGNC	Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN	.	UPI0000161F3B	SNV	UBE3A,missense_variant,p.Ile216Val,ENST00000566215,;UBE3A,missense_variant,p.Ile239Val,ENST00000397954,;UBE3A,missense_variant,p.Ile216Val,ENST00000438097,;UBE3A,missense_variant,p.Ile216Val,ENST00000428984,;UBE3A,missense_variant,p.Ile236Val,ENST00000232165,;SNHG14,intron_variant,,ENST00000554726,;	715	55	66	SUCCESS
MGA	23269	.	GRCh37	15	41961695	41961695	+	synonymous_variant	Silent	SNP	G	G	A	rs779780277	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	85	0	ENST00000219905.7:c.603G>A	p.Leu201=	p.L201=	ENST00000219905	NM_001164273.1	201	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55959.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTGCCGAG	NONE	.	.	Prints_domain:PR00937,Superfamily_domains:SSF49417,SMART_domains:SM00425,Pfam_domain:PF00907,Gene3D:1h6fA00,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32,PROSITE_profiles:PS50252	.	.	ENSP00000219905	.	2/24	.	.	.	.	.	.	.	.	rs779780277	2/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000563576,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000566718,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MGA,upstream_gene_variant,,ENST00000561532,;MGA,intron_variant,,ENST00000568630,;	784	85	85	SUCCESS
TRPM7	54822	.	GRCh37	15	50867247	50867247	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	87	0	ENST00000313478.7:c.4821C>T	p.Leu1607=	p.L1607=	ENST00000313478	NM_017672.4	1607	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42035.1	4821	MUTECT|MUSE	.	GCACAGAGGCC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00811,Gene3D:3.30.200.20,hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800,PROSITE_profiles:PS51158	.	.	ENSP00000320239	.	34/39	.	.	.	.	.	.	.	.	.	34/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,synonymous_variant,p.%3D,ENST00000560955,;TRPM7,synonymous_variant,p.%3D,ENST00000313478,;TRPM7,upstream_gene_variant,,ENST00000561267,;TRPM7,non_coding_transcript_exon_variant,,ENST00000558444,;TRPM7,non_coding_transcript_exon_variant,,ENST00000561443,;TRPM7,non_coding_transcript_exon_variant,,ENST00000560849,;TRPM7,non_coding_transcript_exon_variant,,ENST00000560516,;	5103	87	66	SUCCESS
MYO5C	55930	.	GRCh37	15	52521421	52521421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	59	0	ENST00000261839.7:c.3116A>G	p.Glu1039Gly	p.E1039G	ENST00000261839	NM_018728.3	1039	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS42036.1	3116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTCATCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140	.	.	ENSP00000261839	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000261839	Transcript	.	.	ENSG00000128833	7604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0.01)	.	MYO5C_HUMAN	MYO5C	HGNC	Q14783_HUMAN,H0YM93_HUMAN	.	UPI000013D20E	SNV	MYO5C,missense_variant,p.Glu1039Gly,ENST00000261839,;MYO5C,downstream_gene_variant,,ENST00000443683,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,downstream_gene_variant,,ENST00000558902,;	3278	59	35	SUCCESS
SCAPER	49855	.	GRCh37	15	77057677	77057677	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	115	0	ENST00000324767.7:c.1613+1G>T		p.X538_splice	ENST00000324767	NM_020843.2	538		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53962.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACCTTTT	NONE	.	.	.	.	.	ENSP00000454973	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	HIGH	13/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,splice_donor_variant,,ENST00000324767,;SCAPER,splice_donor_variant,,ENST00000538941,;SCAPER,splice_donor_variant,,ENST00000563290,;SCAPER,splice_donor_variant,,ENST00000564590,;SCAPER,splice_donor_variant,,ENST00000565970,;SCAPER,downstream_gene_variant,,ENST00000564022,;SCAPER,splice_donor_variant,,ENST00000303521,;SCAPER,splice_donor_variant,,ENST00000565507,;	.	115	87	SUCCESS
SYNM	23336	.	GRCh37	15	99669633	99669633	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs782489690	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	53	0	ENST00000336292.6:c.1065T>G	p.Asn355Lys	p.N355K	ENST00000336292	NM_145728.2	355	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	.	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATCTATT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	.	.	ENSP00000336775	.	5/5	.	.	.	.	.	.	.	.	rs782489690	5/5	PASS	ENST00000336292	Transcript	.	.	ENSG00000182253	24466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	SYNEM_HUMAN	SYNM	HGNC	.	.	UPI00001B03B3	SNV	SYNM,missense_variant,p.Asn355Lys,ENST00000328642,;SYNM,missense_variant,p.Asn355Lys,ENST00000336292,;SYNM,missense_variant,p.Asn70Lys,ENST00000560674,;RP11-6O2.4,non_coding_transcript_exon_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,intron_variant,,ENST00000561306,;	1185	53	45	SUCCESS
ACSM3	6296	.	GRCh37	16	20802201	20802219	+	intron_variant	Intron	DEL	GTCCCCTGAGGCCAGATCA	GTCCCCTGAGGCCAGATCA	-	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	GTCCCCTGAGGCCAGATCA	GTCCCCTGAGGCCAGATCA	.	.	.	.	.	.	.	.	.	.	.	.	.	216	57	374	0	ENST00000289416.5:c.1326+191_1326+209del		p.*442*	ENST00000289416	NM_005622.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10589.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCTGGTCCCCTGAGGCCAGATCACTGTT	NONE	.	.	.	.	.	ENSP00000289416	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000289416	Transcript	.	.	ENSG00000005187	10522	.	.	MODIFIER	10/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACSM3_HUMAN	ACSM3	HGNC	H3BVD5_HUMAN,H3BTG0_HUMAN,H3BT38_HUMAN,H3BR33_HUMAN	.	UPI0000251DAA	deletion	ERI2,frameshift_variant,p.Asp257SerfsTer23,ENST00000300005,;ACSM3,intron_variant,,ENST00000562251,;ACSM3,intron_variant,,ENST00000289416,;ACSM3,intron_variant,,ENST00000569141,;ACSM3,intron_variant,,ENST00000450120,;ACSM3,downstream_gene_variant,,ENST00000563914,;ACSM3,downstream_gene_variant,,ENST00000440284,;ACSM3,intron_variant,,ENST00000567387,;ACSM3,downstream_gene_variant,,ENST00000561499,;ERI2,non_coding_transcript_exon_variant,,ENST00000562987,;	.	374	273	SUCCESS
VASN	114990	.	GRCh37	16	4431099	4431099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	61	1	ENST00000304735.3:c.221G>T	p.Gly74Val	p.G74V	ENST00000304735	NM_138440.2	74	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10514.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGGCCTGC	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF256	.	.	ENSP00000306864	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304735	Transcript	.	.	ENSG00000168140	18517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.845)	.	deleterious(0)	.	VASN_HUMAN	VASN	HGNC	.	.	UPI000003E779	SNV	VASN,missense_variant,p.Gly74Val,ENST00000304735,;CORO7,intron_variant,,ENST00000423908,;CORO7,intron_variant,,ENST00000539968,;CORO7,intron_variant,,ENST00000574025,;CORO7-PAM16,intron_variant,,ENST00000572467,;CORO7,intron_variant,,ENST00000572549,;CORO7,intron_variant,,ENST00000251166,;CORO7,intron_variant,,ENST00000537233,;CORO7,intron_variant,,ENST00000572044,;CORO7,intron_variant,,ENST00000574311,;CORO7-PAM16,intron_variant,,ENST00000575334,;CORO7,intron_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000576437,;CORO7,intron_variant,,ENST00000571227,;CORO7,intron_variant,,ENST00000575714,;	376	62	41	SUCCESS
DOK4	55715	.	GRCh37	16	57509446	57509446	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	18	0	ENST00000340099.4:c.261C>G	p.Asp87Glu	p.D87E	ENST00000340099	NM_018110.3	87	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS10783.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCCGAGTCATC	NONE	.	.	hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF44,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000344277	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000340099	Transcript	.	.	ENSG00000125170	19868	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.046)	.	tolerated(0.24)	.	DOK4_HUMAN	DOK4	HGNC	H3BVB4_HUMAN,H3BV67_HUMAN,H3BTK2_HUMAN,H3BTI7_HUMAN,H3BTI4_HUMAN,H3BSK0_HUMAN,H3BS85_HUMAN,H3BPY9_HUMAN,H3BN90_HUMAN	.	UPI0000070AA4	SNV	DOK4,missense_variant,p.Asp87Glu,ENST00000566588,;DOK4,missense_variant,p.Asp87Glu,ENST00000340099,;DOK4,missense_variant,p.Asp87Glu,ENST00000564378,;DOK4,missense_variant,p.Asp87Glu,ENST00000562737,;DOK4,missense_variant,p.Asp87Glu,ENST00000566936,;DOK4,missense_variant,p.Asp87Glu,ENST00000569010,;DOK4,missense_variant,p.Asp87Glu,ENST00000567276,;DOK4,missense_variant,p.Asp87Glu,ENST00000569548,;DOK4,missense_variant,p.Asp87Glu,ENST00000569538,;DOK4,missense_variant,p.Asp87Glu,ENST00000569250,;DOK4,missense_variant,p.Asp87Glu,ENST00000568617,;DOK4,missense_variant,p.Asp87Glu,ENST00000567214,;POLR2C,downstream_gene_variant,,ENST00000219252,;DOK4,downstream_gene_variant,,ENST00000562008,;DOK4,downstream_gene_variant,,ENST00000567175,;DOK4,downstream_gene_variant,,ENST00000566705,;DOK4,non_coding_transcript_exon_variant,,ENST00000561918,;DOK4,non_coding_transcript_exon_variant,,ENST00000563483,;DOK4,intron_variant,,ENST00000561659,;	633	18	16	SUCCESS
TRPV3	162514	.	GRCh37	17	3446875	3446875	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	18	55	0	ENST00000576742.1:c.359A>C	p.Lys120Thr	p.K120T	ENST00000576742	NM_145068.3	120	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS58500.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTTCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10582:SF6,hmmpanther:PTHR10582	.	.	ENSP00000301365	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000301365	Transcript	.	.	ENSG00000167723	18084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	tolerated(0.07)	.	TRPV3_HUMAN	TRPV3	HGNC	.	.	UPI0000200627	SNV	TRPV3,missense_variant,p.Lys120Thr,ENST00000301365,;TRPV3,missense_variant,p.Lys120Thr,ENST00000576742,;TRPV3,missense_variant,p.Lys120Thr,ENST00000572519,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;	491	55	24	SUCCESS
TP53	7157	.	GRCh37	17	7578205	7578205	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs587782177	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	28	100	1	ENST00000269305.4:c.644G>A	p.Ser215Asn	p.S215N	ENST00000269305	NM_001126112.2	215	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS11118.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	CCACACTATGT	SITE|p.S215N|c.644G>A|8,CODON|p.0?|c.1_1182del1182|6,CODON|p.S215R|c.645T>G|3,CODON|p.S215R|c.645T>A|4,CODON|p.S122R|c.366T>A|4,CODON|p.S215R|c.645T>G|13,CODON|p.S215R|c.645T>A|4,CODON|p.S83R|c.249T>A|4,CODON|p.S122R|c.366T>G|3,CODON|p.S215R|c.645T>G|3,CODON|p.S83R|c.249T>G|3,CODON|p.S215R|c.645T>A|8,CODON|p.S215I|c.644G>T|4,CODON|p.S215I|c.644G>T|4,CODON|p.S215I|c.644G>T|19,CODON|p.S215T|c.644G>C|3,CODON|p.S83I|c.248G>T|4,CODON|p.S122I|c.365G>T|4,BUFFER|p.Y220fs*27|c.655delC|4,BUFFER|p.V218delV|c.652_654delGTG|3,BUFFER|p.P219S|c.655C>T|4,BUFFER|p.V218G|c.653T>G|6,BUFFER|p.V218A|c.653T>C|3,BUFFER|p.V218E|c.653T>A|8,BUFFER|p.V218M|c.652G>A|7,BUFFER|p.V217A|c.650T>C|5,BUFFER|p.V217G|c.650T>G|4,BUFFER|p.V217E|c.650T>A|3,BUFFER|p.V218delV|c.646_648delGTG|8,BUFFER|p.V216G|c.647T>G|5,BUFFER|p.V216A|c.647T>C|3,BUFFER|p.V216E|c.647T>A|4,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|12,BUFFER|p.V123M|c.367G>A|20,BUFFER|p.V216L|c.646G>T|8,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|7,BUFFER|p.V216M|c.646G>A|70,BUFFER|p.V84M|c.250G>A|20,BUFFER|p.S215C|c.643A>T|4,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S83G|c.247A>G|3,BUFFER|p.S215G|c.643A>G|10,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S122G|c.364A>G|3,BUFFER|p.H214Q|c.642T>G|3,BUFFER|p.H214R|c.641A>G|66,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|5,BUFFER|p.H82R|c.245A>G|18,BUFFER|p.H121R|c.362A>G|16,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|6,BUFFER|p.H214Y|c.640C>T|5,BUFFER|p.H214D|c.640C>G|4,BUFFER|p.R213R|c.639A>G|6,BUFFER|p.R81Q|c.242G>A|9,BUFFER|p.R213L|c.638G>T|12,BUFFER|p.R213L|c.638G>T|4,BUFFER|p.R213L|c.638G>T|39,BUFFER|p.R213Q|c.638G>A|9,BUFFER|p.R213Q|c.638G>A|31,BUFFER|p.R120L|c.359G>T|12,BUFFER|p.R213P|c.638G>C|6,BUFFER|p.R120Q|c.359G>A|9,BUFFER|p.R81L|c.242G>T|12,BUFFER|p.R213L|c.638G>T|6,BUFFER|p.R213L|c.638G>T|12,BUFFER|p.R213Q|c.638G>A|4,BUFFER|p.R213Q|c.638G>A|9,BUFFER|p.R213Q|c.638G>A|3,BUFFER|p.R213fs*34|c.637delC|3,BUFFER|p.F212fs*3|c.635_636delTT|5,BUFFER|p.R213*|c.637C>T|45,BUFFER|p.R120*|c.358C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R81*|c.241C>T|87,BUFFER|p.R213*|c.637C>T|267,BUFFER|p.R213*|c.637C>T|33,BUFFER|p.F212fs*3|c.634_635delTT|6,BUFFER|p.R213fs*34|c.634delT|5,BUFFER|p.T211T|c.633T>C|9	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	rs587782177,TP53_g.12713G>A,TP53_g.12713G>T,TP53_g.12713del,TP53_g.12713G>C,COSM44175,COSM11450,COSM44887,COSM44093,COSM326720,COSM308328,COSM308327,COSM326719,COSM326721,COSM308329,COSM326722,COSM308330	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ser215Asn,ENST00000413465,;TP53,missense_variant,p.Ser215Asn,ENST00000420246,;TP53,missense_variant,p.Ser215Asn,ENST00000269305,;TP53,missense_variant,p.Ser83Asn,ENST00000509690,;TP53,missense_variant,p.Ser215Asn,ENST00000359597,;TP53,missense_variant,p.Ser122Asn,ENST00000514944,;TP53,missense_variant,p.Ser215Asn,ENST00000445888,;TP53,missense_variant,p.Ser215Asn,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	834	101	49	SUCCESS
AATK	9625	.	GRCh37	17	79094718	79094718	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs546580102	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	61	0	ENST00000326724.4:c.3018G>C	p.Glu1006Asp	p.E1006D	ENST00000326724	NM_001080395.2	1006	gaG/gaC	0	.	T:0	.	T:0	.	G	E/D	protein_coding	YES	CCDS45807.1	3018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCTCGGC	NONE	by1000G	.	hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417	T:0	.	ENSP00000324196	T:0	11/14	.	.	.	.	.	.	.	.	rs546580102	11/14	PASS	ENST00000326724	Transcript	.	T:0.0002	ENSG00000181409	21	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	T:0.001	tolerated(0.16)	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,missense_variant,p.Glu1006Asp,ENST00000326724,;AATK,missense_variant,p.Glu903Asp,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000428708,;BAIAP2,downstream_gene_variant,,ENST00000435091,;BAIAP2,downstream_gene_variant,,ENST00000321300,;BAIAP2,downstream_gene_variant,,ENST00000575245,;BAIAP2,downstream_gene_variant,,ENST00000392411,;BAIAP2,downstream_gene_variant,,ENST00000572498,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR338,upstream_gene_variant,,ENST00000390137,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	3043	61	60	SUCCESS
C18orf8	0	.	GRCh37	18	21110006	21110006	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	105	1	ENST00000269221.3:c.1509A>G	p.Glu503=	p.E503=	ENST00000269221	NM_013326.4	503	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS32803.1	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAACTTGT	NONE	.	.	hmmpanther:PTHR12897,Pfam_domain:PF07035	.	.	ENSP00000269221	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000269221	Transcript	.	.	ENSG00000141452	24326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIC1_HUMAN	C18orf8	HGNC	.	.	UPI000013D80D	SNV	C18orf8,synonymous_variant,p.%3D,ENST00000269221,;C18orf8,synonymous_variant,p.%3D,ENST00000590868,;NPC1,intron_variant,,ENST00000586150,;NPC1,intron_variant,,ENST00000590723,;NPC1,intron_variant,,ENST00000591107,;NPC1,intron_variant,,ENST00000593280,;NPC1,downstream_gene_variant,,ENST00000269228,;NPC1,downstream_gene_variant,,ENST00000591051,;NPC1,downstream_gene_variant,,ENST00000412552,;C18orf8,non_coding_transcript_exon_variant,,ENST00000591367,;C18orf8,3_prime_UTR_variant,,ENST00000589215,;C18orf8,3_prime_UTR_variant,,ENST00000590870,;C18orf8,non_coding_transcript_exon_variant,,ENST00000593081,;C18orf8,non_coding_transcript_exon_variant,,ENST00000592682,;C18orf8,non_coding_transcript_exon_variant,,ENST00000589409,;NPC1,downstream_gene_variant,,ENST00000587163,;C18orf8,downstream_gene_variant,,ENST00000590387,;NPC1,downstream_gene_variant,,ENST00000588867,;	1619	106	85	SUCCESS
EMILIN2	84034	.	GRCh37	18	2885054	2885054	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773279293	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	68	0	ENST00000254528.3:c.350A>G	p.Asp117Gly	p.D117G	ENST00000254528	NM_032048.2	117	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11828.1	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGATTGCC	NONE	.	.	PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5	.	.	ENSP00000254528	.	3/8	.	.	.	.	.	.	.	.	rs773279293	3/8	PASS	ENST00000254528	Transcript	.	.	ENSG00000132205	19881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	deleterious(0.01)	.	EMIL2_HUMAN	EMILIN2	HGNC	.	.	UPI000013CE3E	SNV	EMILIN2,missense_variant,p.Asp117Gly,ENST00000254528,;	509	68	53	SUCCESS
DSG2	1829	.	GRCh37	18	29118942	29118943	+	splice_donor_variant	Splice_Site	INS	-	-	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	19	0	ENST00000261590.8:c.1879+2dup		p.X627_splice	ENST00000261590	NM_001943.3	627		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42423.1	.	INDELOCATOR|VARSCANI	.	GCTATGTAAGT	NONE	.	.	.	.	.	ENSP00000261590	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261590	Transcript	.	.	ENSG00000046604	3049	1	.	HIGH	12/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSG2_HUMAN	DSG2	HGNC	.	.	UPI0000048E38	insertion	DSG2,splice_donor_variant,,ENST00000261590,;RP11-75N4.2,downstream_gene_variant,,ENST00000583706,;	.	19	15	SUCCESS
ZNF43	7594	.	GRCh37	19	22000753	22000753	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	32	54	0	ENST00000354959.4:c.166C>T	p.Leu56=	p.L56=	ENST00000354959	NM_003423.3	56	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12413.2	166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGACAGG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000347045	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,synonymous_variant,p.%3D,ENST00000595461,;ZNF43,synonymous_variant,p.%3D,ENST00000593551,;ZNF43,synonymous_variant,p.%3D,ENST00000598288,;ZNF43,synonymous_variant,p.%3D,ENST00000354959,;ZNF43,synonymous_variant,p.%3D,ENST00000594012,;ZNF43,synonymous_variant,p.%3D,ENST00000598381,;ZNF43,5_prime_UTR_variant,,ENST00000599906,;ZNF43,5_prime_UTR_variant,,ENST00000596899,;	336	55	49	SUCCESS
KCNJ14	3770	.	GRCh37	19	48965315	48965315	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	22	21	0	ENST00000342291.2:c.334G>A	p.Ala112Thr	p.A112T	ENST00000342291	NM_013348.3	112	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12721.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTGCCTCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF40,Pfam_domain:PF01007,Gene3D:1.10.287.70,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320	.	.	ENSP00000375756	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000391884	Transcript	.	.	ENSG00000182324	6260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRK14_HUMAN	KCNJ14	HGNC	.	.	UPI000003E7B4	SNV	KCNJ14,missense_variant,p.Ala112Thr,ENST00000342291,;KCNJ14,missense_variant,p.Ala112Thr,ENST00000391884,;CTC-273B12.7,upstream_gene_variant,,ENST00000595676,;CTC-273B12.6,upstream_gene_variant,,ENST00000597574,;CTC-273B12.5,downstream_gene_variant,,ENST00000593476,;CTC-273B12.5,downstream_gene_variant,,ENST00000600650,;CTC-273B12.5,downstream_gene_variant,,ENST00000596497,;CTC-273B12.5,downstream_gene_variant,,ENST00000600529,;	810	21	37	SUCCESS
ZNF615	284370	.	GRCh37	19	52506956	52506956	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1220092583	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	58	0	ENST00000376716.5:c.9G>C	p.Gln3His	p.Q3H	ENST00000376716	NM_198480.3	3	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS59418.1	9	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTGCAT	NONE	.	.	Superfamily_domains:0044637	.	.	ENSP00000471549	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000594083	Transcript	.	.	ENSG00000197619	24740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.281)	.	tolerated(0.09)	.	ZN615_HUMAN	ZNF615	HGNC	.	.	UPI000022A99B	SNV	ZNF615,missense_variant,p.Gln3His,ENST00000376716,;ZNF615,missense_variant,p.Gln3His,ENST00000602063,;ZNF615,missense_variant,p.Gln3His,ENST00000594083,;ZNF615,missense_variant,p.Gln3His,ENST00000598071,;ZNF615,missense_variant,p.Gln3His,ENST00000597747,;ZNF615,missense_variant,p.Gln3His,ENST00000599631,;ZNF615,missense_variant,p.Gln3His,ENST00000601178,;ZNF615,intron_variant,,ENST00000391795,;ZNF615,intron_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000597905,;ZNF615,downstream_gene_variant,,ENST00000595114,;ZNF615,missense_variant,p.Gln3His,ENST00000599177,;ZNF615,intron_variant,,ENST00000599115,;	254	58	61	SUCCESS
OR7G1	125962	.	GRCh37	19	9225688	9225688	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	66	0	ENST00000541538.1:c.752T>C	p.Phe251Ser	p.F251S	ENST00000541538	NM_001005192.2	251	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS32898.2	752	MUTECT|MUSE	.	CATAGAACAAG	NONE	.	.	Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF326,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000444134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000541538	Transcript	.	.	ENSG00000161807	8465	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	OR7G1_HUMAN	OR7G1	HGNC	.	.	UPI0000041C27	SNV	OR7G1,missense_variant,p.Phe251Ser,ENST00000541538,;OR7G1,missense_variant,p.Phe251Ser,ENST00000293614,;	752	66	64	SUCCESS
PRPF38B	55119	.	GRCh37	1	109241956	109241956	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	46	143	0	ENST00000370025.4:c.955C>G	p.Arg319Gly	p.R319G	ENST00000370025	NM_018061.2	319	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS788.1	955	RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCGAAGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23142	.	.	ENSP00000359042	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370025	Transcript	.	.	ENSG00000134186	25512	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.08)	.	PR38B_HUMAN	PRPF38B	HGNC	.	.	UPI000013CF13	SNV	PRPF38B,missense_variant,p.Arg208Gly,ENST00000370021,;PRPF38B,missense_variant,p.Arg319Gly,ENST00000370025,;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,non_coding_transcript_exon_variant,,ENST00000485810,;PRPF38B,downstream_gene_variant,,ENST00000467302,;	1224	143	218	SUCCESS
OR10X1	128367	.	GRCh37	1	158549068	158549068	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759921821	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	200	52	147	0	ENST00000368150.1:c.622A>G	p.Ser208Gly	p.S208G	ENST00000368150	NM_001004477.1	208	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS30900.1	622	RADIA|MUTECT|MUSE|VARSCANS	.	GTTACTGTCTA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF195,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000357132	.	1/1	.	.	.	.	.	.	.	.	rs759921821	1/1	PASS	ENST00000368150	Transcript	.	.	ENSG00000186400	14995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	tolerated(0.05)	.	O10X1_HUMAN	OR10X1	HGNC	.	.	UPI000004CA20	SNV	OR10X1,missense_variant,p.Ser208Gly,ENST00000368150,;	622	147	252	SUCCESS
CROCCP3	114819	.	GRCh37	1	16813101	16813101	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	44	2	ENST00000263511.4:n.1211C>T		p.*404*	ENST00000263511				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|VARSCANS	.	GGCCCGCCTCC	NONE	.	.	.	.	.	.	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000263511	Transcript	.	.	ENSG00000080947	29405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CROCCP3	HGNC	.	.	.	SNV	CROCCP3,non_coding_transcript_exon_variant,,ENST00000263511,;CROCCP3,intron_variant,,ENST00000591348,;CROCCP3,downstream_gene_variant,,ENST00000590118,;CROCCP3,downstream_gene_variant,,ENST00000589964,;CROCCP3,upstream_gene_variant,,ENST00000591316,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000420820,;	1211	46	25	SUCCESS
XCL2	6846	.	GRCh37	1	168510343	168510343	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	19	101	0	ENST00000367819.2:c.192T>C	p.Arg64=	p.R64=	ENST00000367819	NM_003175.3	64	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS1273.1	192	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCACGTTT	NONE	.	.	hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF3,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR01731	.	.	ENSP00000356793	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367819	Transcript	.	.	ENSG00000143185	10646	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XCL2_HUMAN	XCL2	HGNC	.	.	UPI0000136343	SNV	XCL2,synonymous_variant,p.%3D,ENST00000367819,;RP4-738P11.3,upstream_gene_variant,,ENST00000449688,;	225	101	153	SUCCESS
GLUL	2752	.	GRCh37	1	182353689	182353689	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	76	0	ENST00000311223.5:c.973A>G	p.Ile325Val	p.I325V	ENST00000311223	NM_002065.5	325	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1344.1	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAATGCGTA	NONE	.	.	hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF45,Pfam_domain:PF00120,Gene3D:3.30.590.10,Superfamily_domains:SSF55931	.	.	ENSP00000307900	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000311223	Transcript	.	.	ENSG00000135821	4341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	tolerated(0.18)	.	GLNA_HUMAN	GLUL	HGNC	B4DWM6_HUMAN,A8YXX4_HUMAN	.	UPI000012B6E3	SNV	GLUL,missense_variant,p.Ile325Val,ENST00000311223,;GLUL,missense_variant,p.Ile325Val,ENST00000417584,;GLUL,missense_variant,p.Ile325Val,ENST00000331872,;GLUL,missense_variant,p.Ile325Val,ENST00000339526,;GLUL,non_coding_transcript_exon_variant,,ENST00000463851,;GLUL,non_coding_transcript_exon_variant,,ENST00000461447,;GLUL,non_coding_transcript_exon_variant,,ENST00000491322,;GLUL,downstream_gene_variant,,ENST00000475808,;GLUL,downstream_gene_variant,,ENST00000462444,;GLUL,downstream_gene_variant,,ENST00000489818,;GLUL,downstream_gene_variant,,ENST00000484996,;GLUL,downstream_gene_variant,,ENST00000480604,;	1870	76	85	SUCCESS
PLXNA2	5362	.	GRCh37	1	208219318	208219318	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs774908583	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	115	180	0	ENST00000367033.3:c.3400del	p.Asp1134ThrfsTer31	p.D1134Tfs*31	ENST00000367033	NM_025179.3	1134	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS31013.1	3400	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTGTCGTTGT	NONE	.	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000356000	.	18/32	.	.	.	.	.	.	.	.	rs774908583	18/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	deletion	PLXNA2,frameshift_variant,p.Asp1134ThrfsTer31,ENST00000367033,;	4158	180	267	SUCCESS
MIA3	375056	.	GRCh37	1	222802341	222802341	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	22	91	0	ENST00000344922.5:c.1779C>G	p.Asp593Glu	p.D593E	ENST00000344922	NM_198551.2	593	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS41470.1	1779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACAGTGT	NONE	.	.	hmmpanther:PTHR23158:SF37,hmmpanther:PTHR23158	.	.	ENSP00000340900	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000344922	Transcript	.	.	ENSG00000154305	24008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.08)	.	MIA3_HUMAN	MIA3	HGNC	.	.	UPI00001D75B3	SNV	MIA3,missense_variant,p.Asp593Glu,ENST00000344922,;MIA3,missense_variant,p.Asp176Glu,ENST00000354906,;MIA3,missense_variant,p.Asp593Glu,ENST00000344441,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	1804	91	125	SUCCESS
C1orf65	0	.	GRCh37	1	223568587	223568587	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	160	48	182	1	ENST00000366875.3:c.1770T>C	p.Pro590=	p.P590=	ENST00000366875	NM_152610.2	590	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS1537.1	1770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTCAGGC	NONE	.	.	Pfam_domain:PF15558	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,synonymous_variant,p.%3D,ENST00000366875,;	1873	183	208	SUCCESS
ZNF678	339500	.	GRCh37	1	227843314	227843314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	61	0	ENST00000343776.5:c.1363C>A	p.His455Asn	p.H455N	ENST00000343776	NM_178549.3	455	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	.	1363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTCATACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000344828	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343776	Transcript	.	.	ENSG00000181450	28652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN678_HUMAN	ZNF678	HGNC	.	.	UPI000019862A	SNV	ZNF678,missense_variant,p.His510Asn,ENST00000397097,;ZNF678,missense_variant,p.His455Asn,ENST00000343776,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,;ZNF678,downstream_gene_variant,,ENST00000465266,;	1708	61	77	SUCCESS
EPHA8	2046	.	GRCh37	1	22915685	22915685	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	97	0	ENST00000166244.3:c.1301C>T	p.Thr434Ile	p.T434I	ENST00000166244	NM_020526.3	434	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS225.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACCACGA	NONE	.	.	Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS50853	.	.	ENSP00000166244	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0.01)	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,missense_variant,p.Thr434Ile,ENST00000374644,;EPHA8,missense_variant,p.Thr434Ile,ENST00000538803,;EPHA8,missense_variant,p.Thr434Ile,ENST00000166244,;	1373	97	89	SUCCESS
C1QC	714	.	GRCh37	1	22970634	22970634	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762500174	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	32	109	0	ENST00000374637.1:c.118G>A	p.Gly40Ser	p.G40S	ENST00000374637		40	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS227.1	118	RADIA|MUTECT|MUSE	.	TGCCCGGCCTG	NONE	.	.	hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF17,Pfam_domain:PF01391	.	.	ENSP00000363770	.	2/3	.	.	.	.	.	.	.	.	rs762500174	2/3	PASS	ENST00000374639	Transcript	.	.	ENSG00000159189	1245	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	C1QC_HUMAN	C1QC	HGNC	.	.	UPI0000126BF3	SNV	C1QC,missense_variant,p.Gly40Ser,ENST00000374640,;C1QC,missense_variant,p.Gly40Ser,ENST00000374637,;C1QC,missense_variant,p.Gly40Ser,ENST00000374639,;C1QA,downstream_gene_variant,,ENST00000402322,;C1QA,downstream_gene_variant,,ENST00000374642,;C1QA,downstream_gene_variant,,ENST00000438241,;	236	109	88	SUCCESS
RYR2	6262	.	GRCh37	1	237875069	237875069	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	173	15	172	0	ENST00000366574.2:c.10255T>G	p.Phe3419Val	p.F3419V	ENST00000366574	NM_001035.2	3419	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS55691.1	10255	MUTECT|MUSE	.	AGAACTTCGTT	BUFFER|p.F3419F|c.10257C>T|3	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	71/105	.	.	.	.	.	.	.	.	.	71/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.821)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Phe3403Val,ENST00000542537,;RYR2,missense_variant,p.Phe3419Val,ENST00000366574,;RYR2,missense_variant,p.Phe3417Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	10572	172	188	SUCCESS
OR2M7	391196	.	GRCh37	1	248487416	248487416	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	17	110	0	ENST00000317965.2:c.455G>C	p.Gly152Ala	p.G152A	ENST00000317965	NM_001004691.1	152	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS31111.1	455	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGCCCAGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317965	Transcript	.	.	ENSG00000177186	19594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	tolerated(0.09)	.	OR2M7_HUMAN	OR2M7	HGNC	.	.	UPI000004B236	SNV	OR2M7,missense_variant,p.Gly152Ala,ENST00000317965,;	484	111	121	SUCCESS
CSMD2	114784	.	GRCh37	1	34258042	34258042	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	143	0	ENST00000241312.4:c.1412A>G	p.Gln471Arg	p.Q471R	ENST00000241312		471	cAg/cGg	0	.	.	.	.	.	C	Q/R	nonsense_mediated_decay	YES	CCDS380.1	1412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGGTCC	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	11/70	.	.	.	.	.	.	.	.	.	11/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	tolerated(0.4)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Gln119Arg,ENST00000338325,;CSMD2,missense_variant,p.Gln511Arg,ENST00000373381,;CSMD2,downstream_gene_variant,,ENST00000471438,;CSMD2,missense_variant,p.Gln471Arg,ENST00000241312,;	1441	143	100	SUCCESS
COL8A2	1296	.	GRCh37	1	36564429	36564429	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779407262	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	57	0	ENST00000303143.4:c.853G>A	p.Ala285Thr	p.A285T	ENST00000303143	NM_005202.2	285	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS403.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022:SF74,hmmpanther:PTHR24022,Pfam_domain:PF01391	.	.	ENSP00000380901	.	4/4	.	.	.	.	.	.	.	.	rs779407262	4/4	PASS	ENST00000397799	Transcript	.	.	ENSG00000171812	2216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.57)	.	CO8A2_HUMAN	COL8A2	HGNC	R9UH34_HUMAN,Q4VAQ1_HUMAN,E9PP49_HUMAN	.	UPI00001B2F2D	SNV	COL8A2,missense_variant,p.Ala285Thr,ENST00000303143,;COL8A2,missense_variant,p.Ala220Thr,ENST00000481785,;COL8A2,missense_variant,p.Ala285Thr,ENST00000397799,;ADPRHL2,downstream_gene_variant,,ENST00000373178,;	1078	57	54	SUCCESS
GRIK3	2899	.	GRCh37	1	37270816	37270816	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	55	0	ENST00000373091.3:c.2337C>A	p.Ile779=	p.I779=	ENST00000373091	NM_000831.3	779	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS416.1	2337	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGATCTT	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	.	.	ENSP00000362183	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000373091	Transcript	.	.	ENSG00000163873	4581	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRIK3_HUMAN	GRIK3	HGNC	Q96SC0_HUMAN	.	UPI000013E311	SNV	GRIK3,synonymous_variant,p.%3D,ENST00000373093,;GRIK3,synonymous_variant,p.%3D,ENST00000373091,;	2354	55	30	SUCCESS
ZCCHC11	0	.	GRCh37	1	52981223	52981223	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000257177.4:c.882+340T>G		p.*294*	ENST00000257177				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30715.1	.	MUTECT|MUSE	.	CATGTAAACAA	NONE	.	.	.	.	.	ENSP00000257177	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257177	Transcript	.	.	ENSG00000134744	28981	.	.	MODIFIER	3/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TUT4_HUMAN	ZCCHC11	HGNC	H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN	.	UPI00001D7D0C	SNV	ZCCHC11,3_prime_UTR_variant,,ENST00000355809,;ZCCHC11,intron_variant,,ENST00000257177,;ZCCHC11,intron_variant,,ENST00000484723,;ZCCHC11,intron_variant,,ENST00000528642,;ZCCHC11,intron_variant,,ENST00000371544,;ZCCHC11,intron_variant,,ENST00000371541,;ZCCHC11,intron_variant,,ENST00000473856,;	.	11	9	SUCCESS
CHD5	26038	.	GRCh37	1	6185204	6185204	+	synonymous_variant	Silent	SNP	G	G	A	rs754212438	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	23	0	ENST00000262450.3:c.4350C>T	p.His1450=	p.H1450=	ENST00000262450	NM_015557.2	1450	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS57.1	4350	RADIA|VARSCANS	.	AGCCAGTGGGA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Pfam_domain:PF06461	.	.	ENSP00000262450	.	29/42	.	.	.	.	.	.	.	.	rs754212438	29/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,synonymous_variant,p.%3D,ENST00000378021,;CHD5,synonymous_variant,p.%3D,ENST00000262450,;CHD5,synonymous_variant,p.%3D,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,downstream_gene_variant,,ENST00000491020,;	4450	23	37	SUCCESS
SLC24A3	57419	.	GRCh37	20	19560719	19560719	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	52	93	0	ENST00000328041.6:c.423+1G>C		p.X141_splice	ENST00000328041	NM_020689.3	141		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13140.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGTACGT	NONE	.	.	.	.	.	ENSP00000333519	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328041	Transcript	.	.	ENSG00000185052	10977	.	.	HIGH	4/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKX3_HUMAN	SLC24A3	HGNC	.	.	UPI00001A8BFD	SNV	SLC24A3,splice_donor_variant,,ENST00000328041,;	.	93	96	SUCCESS
CST7	8530	.	GRCh37	20	24930124	24930124	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	26	88	1	ENST00000480798.1:c.-18G>T		p.*6*	ENST00000480798	NM_003650.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13165.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGTCCCT	NONE	.	.	.	.	.	ENSP00000420384	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000480798	Transcript	.	.	ENSG00000077984	2479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYTF_HUMAN	CST7	HGNC	.	.	UPI0000001CA0	SNV	CST7,missense_variant,p.Val17Phe,ENST00000376835,;CST7,5_prime_UTR_variant,,ENST00000480798,;	259	89	97	SUCCESS
ZSWIM1	90204	.	GRCh37	20	44512235	44512235	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	45	68	0	ENST00000372520.1:c.1004C>T	p.Thr335Ile	p.T335I	ENST00000372520		335	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS13382.2	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACAGGGC	NONE	.	.	hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0	.	.	ENSP00000361601	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372523	Transcript	.	.	ENSG00000168612	16155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.28)	.	ZSWM1_HUMAN	ZSWIM1	HGNC	A8K5I9_HUMAN	.	UPI0000470896	SNV	ZSWIM1,missense_variant,p.Thr335Ile,ENST00000372520,;ZSWIM1,missense_variant,p.Thr335Ile,ENST00000372523,;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,;ZSWIM3,downstream_gene_variant,,ENST00000255152,;	1099	68	88	SUCCESS
TSPEAR	54084	.	GRCh37	21	45941865	45941865	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs201105425	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	40	109	0	ENST00000323084.4:c.1467C>G	p.Phe489Leu	p.F489L	ENST00000323084	NM_001272037.1	489	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS13712.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGAACGA	NONE	.	.	hmmpanther:PTHR15261,PROSITE_profiles:PS50912	.	.	ENSP00000321987	.	9/12	.	.	.	.	.	.	.	.	rs201105425	9/12	PASS	ENST00000323084	Transcript	.	.	ENSG00000175894	1268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	TSEAR_HUMAN	TSPEAR	HGNC	.	.	UPI0000137746	SNV	TSPEAR,missense_variant,p.Phe421Leu,ENST00000397916,;TSPEAR,missense_variant,p.Phe489Leu,ENST00000323084,;C21orf90,downstream_gene_variant,,ENST00000354333,;C21orf90,downstream_gene_variant,,ENST00000330490,;C21orf90,intron_variant,,ENST00000465978,;	1533	109	116	SUCCESS
POTEH	23784	.	GRCh37	22	16279260	16279260	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs752404930	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	343	37	359	0	ENST00000343518.6:c.963del	p.Lys321AsnfsTer5	p.K321Nfs*5	ENST00000343518	NM_001136213.1	321	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS46658.1	963	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCTGTTTTTG	NONE	byFrequency	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000340610	.	4/11	.	.	.	.	.	.	.	.	rs752404930,COSM392745,COSM419657	4/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	deletion	POTEH,frameshift_variant,p.Lys321AsnfsTer5,ENST00000343518,;RNU6-816P,upstream_gene_variant,,ENST00000390914,;POTEH-AS1,downstream_gene_variant,,ENST00000422014,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1015	359	380	SUCCESS
LIMK2	3985	.	GRCh37	22	31669449	31669449	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	60	0	ENST00000331728.4:c.1570G>C	p.Asp524His	p.D524H	ENST00000331728	NM_005569.3	524	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS33637.1	1507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATGATGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF398,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000339916	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000340552	Transcript	.	.	ENSG00000182541	6614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LIMK2_HUMAN	LIMK2	HGNC	B5MC51_HUMAN	.	UPI0000169F37	SNV	LIMK2,missense_variant,p.Asp503His,ENST00000333611,;LIMK2,missense_variant,p.Asp278His,ENST00000444929,;LIMK2,missense_variant,p.Asp524His,ENST00000331728,;LIMK2,missense_variant,p.Asp503His,ENST00000340552,;LIMK2,missense_variant,p.Asp446His,ENST00000406516,;LIMK2,non_coding_transcript_exon_variant,,ENST00000467301,;LIMK2,non_coding_transcript_exon_variant,,ENST00000482270,;	1737	60	51	SUCCESS
SREBF2	6721	.	GRCh37	22	42273946	42273946	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	41	0	ENST00000361204.4:c.1580G>T	p.Gly527Val	p.G527V	ENST00000361204	NM_004599.3	527	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS14023.1	1580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGGTTCTG	NONE	.	.	hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565	.	.	ENSP00000354476	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.22)	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	SNV	SREBF2,missense_variant,p.Gly527Val,ENST00000361204,;SREBF2,missense_variant,p.Gly527Val,ENST00000424354,;SREBF2,downstream_gene_variant,,ENST00000464119,;SREBF2,downstream_gene_variant,,ENST00000462539,;	1746	41	32	SUCCESS
ANAPC1	64682	.	GRCh37	2	112550033	112550033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	95	400	0	ENST00000341068.3:c.4618C>T	p.Arg1540Cys	p.R1540C	ENST00000341068	NM_022662.3	1540	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2093.1	4618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGACAAA	NONE	.	.	hmmpanther:PTHR12827	.	.	ENSP00000339109	.	38/48	.	.	.	.	.	.	.	.	.	38/48	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	SNV	ANAPC1,missense_variant,p.Arg1540Cys,ENST00000341068,;ANAPC1,missense_variant,p.Arg1075Cys,ENST00000427997,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000464695,;	5391	401	258	SUCCESS
PSD4	23550	.	GRCh37	2	113949983	113949983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	58	0	ENST00000245796.6:c.1655C>T	p.Ser552Phe	p.S552F	ENST00000245796	NM_012455.2	552	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS33276.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCTTCTT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65	.	.	ENSP00000245796	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000245796	Transcript	.	.	ENSG00000125637	19096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.86)	.	PSD4_HUMAN	PSD4	HGNC	B3KN27_HUMAN	.	UPI00004A0748	SNV	PSD4,missense_variant,p.Ser524Phe,ENST00000441564,;PSD4,missense_variant,p.Ser552Phe,ENST00000245796,;PSD4,upstream_gene_variant,,ENST00000409378,;PSD4,3_prime_UTR_variant,,ENST00000409656,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000487574,;PSD4,upstream_gene_variant,,ENST00000493329,;PSD4,upstream_gene_variant,,ENST00000465592,;PSD4,upstream_gene_variant,,ENST00000460725,;	1850	58	42	SUCCESS
TTN	7273	.	GRCh37	2	179615005	179615005	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	105	0	ENST00000591111.1:c.10360+2846T>A		p.*3454*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGACATCA	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val4041Asp,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	105	83	SUCCESS
CASP10	843	.	GRCh37	2	202082364	202082364	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	49	180	0	ENST00000272879.5:c.1415+8079G>C		p.*472*	ENST00000272879	NM_032974.4	490		0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS2340.1	1469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAAGAGTGG	NONE	.	.	PROSITE_profiles:PS50207,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129	.	.	ENSP00000286186	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000286186	Transcript	.	.	ENSG00000003400	1500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.32)	.	deleterious(0.01)	.	CASPA_HUMAN	CASP10	HGNC	.	.	UPI0000074732	SNV	CASP10,missense_variant,p.Arg423Thr,ENST00000313728,;CASP10,missense_variant,p.Arg490Thr,ENST00000286186,;CASP10,missense_variant,p.Arg447Thr,ENST00000346817,;CASP10,3_prime_UTR_variant,,ENST00000360132,;CASP10,intron_variant,,ENST00000272879,;CASP10,intron_variant,,ENST00000448480,;CASP10,non_coding_transcript_exon_variant,,ENST00000492363,;MTND5P25,upstream_gene_variant,,ENST00000430499,;AC005037.6,upstream_gene_variant,,ENST00000425022,;MTND4P23,upstream_gene_variant,,ENST00000447723,;	1904	180	152	SUCCESS
APOB	338	.	GRCh37	2	21252508	21252508	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	47	0	ENST00000233242.1:c.1617+3A>G		p.X539_splice	ENST00000233242	NM_000384.2	539		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1703.1	.	RADIA|MUSE	.	GACTTTACCTT	NONE	.	.	.	.	.	ENSP00000233242	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	LOW	12/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,splice_region_variant,,ENST00000233242,;APOB,splice_region_variant,,ENST00000399256,;	.	47	30	SUCCESS
APOB	338	.	GRCh37	2	21252519	21252519	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752565801	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	49	0	ENST00000233242.1:c.1609A>G	p.Lys537Glu	p.K537E	ENST00000233242	NM_000384.2	537	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS1703.1	1609	RADIA|MUTECT|MUSE	.	GTCTTTAGGCT	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642	.	.	ENSP00000233242	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Lys537Glu,ENST00000233242,;APOB,missense_variant,p.Lys537Glu,ENST00000399256,;	1737	49	33	SUCCESS
SLC30A6	55676	.	GRCh37	2	32396397	32396397	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	92	0	ENST00000282587.5:c.45T>A	p.Phe15Leu	p.F15L	ENST00000282587	NM_017964.3	15	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS54341.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTGGCAA	NONE	.	.	hmmpanther:PTHR11562:SF27,hmmpanther:PTHR11562	.	.	ENSP00000368648	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000379343	Transcript	.	.	ENSG00000152683	19305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.57)	.	ZNT6_HUMAN	SLC30A6	HGNC	B5MCR8_HUMAN,B3KU87_HUMAN	.	UPI0000D61182	SNV	SLC30A6,missense_variant,p.Phe15Leu,ENST00000379343,;SLC30A6,missense_variant,p.Phe15Leu,ENST00000435660,;SLC30A6,missense_variant,p.Phe15Leu,ENST00000282587,;SLC30A6,5_prime_UTR_variant,,ENST00000357055,;SLC30A6,intron_variant,,ENST00000538303,;SLC30A6,intron_variant,,ENST00000440718,;SLC30A6,intron_variant,,ENST00000406369,;SLC30A6,missense_variant,p.Phe15Leu,ENST00000457724,;SLC30A6,missense_variant,p.Phe15Leu,ENST00000454324,;SLC30A6,missense_variant,p.Phe15Leu,ENST00000449777,;	82	92	81	SUCCESS
ATP2B2	491	.	GRCh37	3	10401666	10401666	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	31	0	ENST00000352432.4:c.1801A>T	p.Thr601Ser	p.T601S	ENST00000352432		601	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33701.1	1801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGTGTACA	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01517,Gene3D:3.40.1110.10,Pfam_domain:PF00702,Superfamily_domains:SSF81660	.	.	ENSP00000353414	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	deleterious(0.02)	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,missense_variant,p.Thr587Ser,ENST00000343816,;ATP2B2,missense_variant,p.Thr601Ser,ENST00000360273,;ATP2B2,missense_variant,p.Thr556Ser,ENST00000383800,;ATP2B2,missense_variant,p.Thr601Ser,ENST00000352432,;ATP2B2,missense_variant,p.Thr556Ser,ENST00000397077,;ATP2B2,missense_variant,p.Thr457Ser,ENST00000452124,;ATP2B2,missense_variant,p.Thr556Ser,ENST00000460129,;	2240	31	29	SUCCESS
KIAA1407	0	.	GRCh37	3	113775401	113775401	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	12	0	ENST00000295878.3:c.-88A>C		p.*30*	ENST00000295878	NM_020817.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2977.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGTTCCTC	NONE	.	.	.	.	.	ENSP00000295878	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,5_prime_UTR_variant,,ENST00000295878,;KIAA1407,5_prime_UTR_variant,,ENST00000491000,;QTRTD1,intron_variant,,ENST00000472599,;QTRTD1,upstream_gene_variant,,ENST00000485050,;QTRTD1,upstream_gene_variant,,ENST00000479882,;KIAA1407,upstream_gene_variant,,ENST00000545063,;KIAA1407,upstream_gene_variant,,ENST00000483766,;QTRTD1,upstream_gene_variant,,ENST00000493014,;QTRTD1,upstream_gene_variant,,ENST00000281273,;KIAA1407,upstream_gene_variant,,ENST00000480588,;QTRTD1,upstream_gene_variant,,ENST00000466050,;QTRTD1,upstream_gene_variant,,ENST00000490183,;KIAA1407,upstream_gene_variant,,ENST00000481358,;KIAA1407,upstream_gene_variant,,ENST00000463695,;KIAA1407,upstream_gene_variant,,ENST00000460813,;QTRTD1,upstream_gene_variant,,ENST00000460163,;QTRTD1,upstream_gene_variant,,ENST00000488665,;	60	12	15	SUCCESS
CD80	941	.	GRCh37	3	119263583	119263583	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	126	0	ENST00000264246.3:c.232T>A	p.Ser78Thr	p.S78T	ENST00000264246	NM_005191.3	78	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS2989.1	232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACATCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR25462:SF214,hmmpanther:PTHR25462,PROSITE_profiles:PS50835	.	.	ENSP00000264246	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000264246	Transcript	.	.	ENSG00000121594	1700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0.03)	.	CD80_HUMAN	CD80	HGNC	Q6LCB7_HUMAN,A0N0P2_HUMAN	.	UPI000000D9F5	SNV	CD80,missense_variant,p.Ser78Thr,ENST00000383668,;CD80,missense_variant,p.Ser78Thr,ENST00000264246,;CD80,missense_variant,p.Ser78Thr,ENST00000383669,;CD80,missense_variant,p.Ser78Thr,ENST00000478182,;CD80,non_coding_transcript_exon_variant,,ENST00000463729,;	595	126	90	SUCCESS
ASTE1	28990	.	GRCh37	3	130735202	130735202	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	88	0	ENST00000264992.3:c.1514-19G>T		p.*505*	ENST00000264992	NM_014065.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56278.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCAAGGG	NONE	.	.	.	.	.	ENSP00000376914	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000393221	Transcript	.	.	ENSG00000017260	13211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2C1_HUMAN	ATP2C1	HGNC	D6RGE9_HUMAN,D6R9U9_HUMAN	.	UPI0000EE224C	SNV	ATP2C1,3_prime_UTR_variant,,ENST00000533801,;ATP2C1,3_prime_UTR_variant,,ENST00000328560,;ATP2C1,3_prime_UTR_variant,,ENST00000504612,;ATP2C1,3_prime_UTR_variant,,ENST00000359644,;ATP2C1,3_prime_UTR_variant,,ENST00000507488,;ATP2C1,3_prime_UTR_variant,,ENST00000393221,;ATP2C1,3_prime_UTR_variant,,ENST00000422190,;ATP2C1,3_prime_UTR_variant,,ENST00000513801,;ATP2C1,3_prime_UTR_variant,,ENST00000504381,;ASTE1,intron_variant,,ENST00000514044,;ASTE1,intron_variant,,ENST00000264992,;ASTE1,intron_variant,,ENST00000505290,;ASTE1,intron_variant,,ENST00000507978,;ASTE1,downstream_gene_variant,,ENST00000504964,;	3248	88	73	SUCCESS
MECOM	2122	.	GRCh37	3	168833394	168833394	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1287450378	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	68	0	ENST00000468789.1:c.1702C>G	p.Pro568Ala	p.P568A	ENST00000468789	NM_001105078.3	568	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS54670.1	1897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGAGTCA	NONE	.	.	hmmpanther:PTHR24393	.	.	ENSP00000264674	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.14)	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,missense_variant,p.Pro569Ala,ENST00000472280,;MECOM,missense_variant,p.Pro568Ala,ENST00000460814,;MECOM,missense_variant,p.Pro568Ala,ENST00000464456,;MECOM,missense_variant,p.Pro756Ala,ENST00000494292,;MECOM,missense_variant,p.Pro568Ala,ENST00000468789,;MECOM,missense_variant,p.Pro569Ala,ENST00000433243,;MECOM,missense_variant,p.Pro568Ala,ENST00000392736,;MECOM,missense_variant,p.Pro219Ala,ENST00000492586,;MECOM,missense_variant,p.Pro633Ala,ENST00000264674,;	2036	68	58	SUCCESS
MST1R	4486	.	GRCh37	3	49933287	49933287	+	synonymous_variant	Silent	SNP	G	G	A	rs201143544	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	36	0	ENST00000296474.3:c.2823C>T	p.Ile941=	p.I941=	ENST00000296474	NM_002447.2	941	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS2807.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGATATG	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,PIRSF_domain:PIRSF000617	.	.	ENSP00000296474	.	12/20	.	.	.	.	.	.	.	.	rs201143544	12/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,synonymous_variant,p.%3D,ENST00000344206,;MST1R,synonymous_variant,p.%3D,ENST00000296474,;MST1R,intron_variant,,ENST00000440292,;MST1R,upstream_gene_variant,,ENST00000434765,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;MST1R,synonymous_variant,p.%3D,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,downstream_gene_variant,,ENST00000493535,;MST1R,upstream_gene_variant,,ENST00000490053,;MST1R,downstream_gene_variant,,ENST00000485044,;	2851	36	40	SUCCESS
DNAH12	201625	.	GRCh37	3	57356458	57356458	+	synonymous_variant	Silent	SNP	C	C	T	rs753847165	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	70	0	ENST00000351747.2:c.7833G>A	p.Thr2611=	p.T2611=	ENST00000351747	NM_178504.4	2611	acG/acA	0	.	.	.	.	.	T	T	protein_coding	.	.	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCCGTGGG	NONE	byFrequency	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000340464	.	6/14	.	.	.	.	.	.	.	.	rs753847165	6/14	PASS	ENST00000344804	Transcript	.	.	ENSG00000174844	2943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH12_HUMAN	DNAH12	HGNC	.	.	UPI000013E2D7	SNV	DNAH12,synonymous_variant,p.%3D,ENST00000344804,;DNAH12,synonymous_variant,p.%3D,ENST00000466540,;DNAH12,synonymous_variant,p.%3D,ENST00000351747,;DNAH12,synonymous_variant,p.%3D,ENST00000462199,;	915	70	62	SUCCESS
FSTL5	56884	.	GRCh37	4	162431553	162431553	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	96	316	0	ENST00000306100.5:c.1336G>T	p.Glu446Ter	p.E446*	ENST00000306100	NM_001128427.2	446	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3802.1	1336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCTTCTC	NONE	.	.	hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,stop_gained,p.Glu445Ter,ENST00000379164,;FSTL5,stop_gained,p.Glu445Ter,ENST00000536695,;FSTL5,stop_gained,p.Glu446Ter,ENST00000306100,;FSTL5,intron_variant,,ENST00000427802,;	1773	316	288	SUCCESS
CWH43	80157	.	GRCh37	4	49005828	49005828	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	90	0	ENST00000226432.4:c.879T>A	p.Phe293Leu	p.F293L	ENST00000226432	NM_025087.2	293	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS3486.1	879	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTTACTGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14859:SF0,hmmpanther:PTHR14859	.	.	ENSP00000226432	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000226432	Transcript	.	.	ENSG00000109182	26133	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.723)	.	deleterious(0.05)	.	PG2IP_HUMAN	CWH43	HGNC	E7EQL2_HUMAN,D6RDZ8_HUMAN	.	UPI000020BC89	SNV	CWH43,missense_variant,p.Phe266Leu,ENST00000513409,;CWH43,missense_variant,p.Phe293Leu,ENST00000226432,;CWH43,non_coding_transcript_exon_variant,,ENST00000506221,;CWH43,intron_variant,,ENST00000514053,;	1062	90	65	SUCCESS
UBA6	55236	.	GRCh37	4	68543400	68543400	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1283234767	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	75	0	ENST00000322244.5:c.394T>C	p.Tyr132His	p.Y132H	ENST00000322244	NM_018227.5	132	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS3516.1	394	RADIA|MUTECT|MUSE|VARSCANS	.	AACGTATGGAT	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572	.	.	ENSP00000313454	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000322244	Transcript	.	.	ENSG00000033178	25581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.665)	.	deleterious(0.03)	.	UBA6_HUMAN	UBA6	HGNC	B3KSS1_HUMAN	.	UPI000004A4F7	SNV	UBA6,missense_variant,p.Tyr132His,ENST00000322244,;UBA6,missense_variant,p.Tyr132His,ENST00000420827,;UBA6,non_coding_transcript_exon_variant,,ENST00000429659,;UBA6,downstream_gene_variant,,ENST00000506571,;	454	75	50	SUCCESS
TIGD2	166815	.	GRCh37	4	90035650	90035650	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	105	0	ENST00000317005.2:c.1525C>T	p.Leu509Phe	p.L509F	ENST00000317005	NM_145715.2	509	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS3633.1	1525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCTTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF220	.	.	ENSP00000317170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317005	Transcript	.	.	ENSG00000180346	18333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.01)	.	TIGD2_HUMAN	TIGD2	HGNC	.	.	UPI000013FF3C	SNV	TIGD2,missense_variant,p.Leu509Phe,ENST00000317005,;RP11-84C13.2,upstream_gene_variant,,ENST00000603220,;RP11-84C13.1,downstream_gene_variant,,ENST00000603357,;FAM13A,upstream_gene_variant,,ENST00000502459,;	1683	105	75	SUCCESS
PCDHB6	56130	.	GRCh37	5	140530762	140530762	+	synonymous_variant	Silent	SNP	G	G	A	rs782250198	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	86	0	ENST00000231136.1:c.924G>A	p.Glu308=	p.E308=	ENST00000231136	NM_018939.2	308	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS4248.1	924	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAGGAAAT	CODON|p.E309K|c.925G>A|3	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,PROSITE_profiles:PS50268	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	rs782250198	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,synonymous_variant,p.%3D,ENST00000543635,;PCDHB6,synonymous_variant,p.%3D,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	924	86	42	SUCCESS
TAF7	6879	.	GRCh37	5	140700150	140700150	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	40	146	0	ENST00000313368.5:c.-539T>G		p.*180*	ENST00000313368	NM_005642.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4259.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGAGCCAA	NONE	.	.	.	.	.	ENSP00000312709	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313368	Transcript	.	.	ENSG00000178913	11541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF7_HUMAN	TAF7	HGNC	.	.	UPI00001367E8	SNV	TAF7,5_prime_UTR_variant,,ENST00000313368,;AC005618.1,non_coding_transcript_exon_variant,,ENST00000535969,;	181	146	65	SUCCESS
EBF1	1879	.	GRCh37	5	158135124	158135124	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	63	0	ENST00000313708.6:c.1607G>A	p.Ser536Asn	p.S536N	ENST00000313708	NM_024007.3	536	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS4343.1	1607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10747	.	.	ENSP00000322898	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.06)	.	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,missense_variant,p.Ser505Asn,ENST00000380654,;EBF1,missense_variant,p.Ser468Asn,ENST00000517373,;EBF1,missense_variant,p.Ser536Asn,ENST00000313708,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,upstream_gene_variant,,ENST00000518323,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	1890	63	24	SUCCESS
DOK3	79930	.	GRCh37	5	176931878	176931878	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201667045	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	46	0	ENST00000357198.4:c.679G>A	p.Ala227Thr	p.A227T	ENST00000357198	NM_024872.2	227	Gcc/Acc	0	T:0	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS4426.1	679	RADIA|VARSCANS	.	GGTGGCGGCCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF42,Pfam_domain:PF02174,Gene3D:2.30.29.30,SMART_domains:SM00310,Superfamily_domains:SSF50729	T:0	T:0.0002	ENSP00000349727	T:0.001	5/6	.	.	.	.	.	.	.	.	rs201667045	5/6	PASS	ENST00000357198	Transcript	.	T:0.0002	ENSG00000146094	24583	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.405)	T:0	tolerated(0.1)	.	DOK3_HUMAN	DOK3	HGNC	D6RC22_HUMAN,D6RAZ9_HUMAN,D6RAV2_HUMAN,D6RAM3_HUMAN,D6R977_HUMAN,D6R951_HUMAN	.	UPI000013DA2C	SNV	DOK3,missense_variant,p.Ala171Thr,ENST00000312943,;DOK3,missense_variant,p.Ala171Thr,ENST00000510380,;DOK3,missense_variant,p.Ala171Thr,ENST00000501403,;DOK3,missense_variant,p.Ala227Thr,ENST00000357198,;DOK3,missense_variant,p.Ala69Thr,ENST00000377112,;DOK3,downstream_gene_variant,,ENST00000506493,;DOK3,downstream_gene_variant,,ENST00000502885,;DOK3,downstream_gene_variant,,ENST00000510898,;DOK3,downstream_gene_variant,,ENST00000510389,;DOK3,downstream_gene_variant,,ENST00000509310,;RP11-1334A24.6,downstream_gene_variant,,ENST00000506025,;DOK3,non_coding_transcript_exon_variant,,ENST00000500323,;DOK3,downstream_gene_variant,,ENST00000512660,;DOK3,downstream_gene_variant,,ENST00000502380,;	684	46	30	SUCCESS
AMACR	23600	.	GRCh37	5	34005903	34005903	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	34	0	ENST00000335606.6:c.349T>G	p.Cys117Gly	p.C117G	ENST00000335606	NM_001167595.1	117	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS54836.1	349	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCAGAAGC	NONE	.	.	Superfamily_domains:SSF89796,Pfam_domain:PF02515,Gene3D:3.40.50.10540,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF8	.	.	ENSP00000371517	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000382085	Transcript	1	.	ENSG00000242110	451	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	deleterious(0.01)	.	AMACR_HUMAN	AMACR	HGNC	.	.	UPI000020C93C	SNV	AMACR,missense_variant,p.Cys117Gly,ENST00000441713,;AMACR,missense_variant,p.Cys117Gly,ENST00000426255,;AMACR,missense_variant,p.Cys117Gly,ENST00000502637,;AMACR,missense_variant,p.Cys117Gly,ENST00000382085,;AMACR,missense_variant,p.Cys117Gly,ENST00000382072,;AMACR,missense_variant,p.Cys117Gly,ENST00000512079,;AMACR,missense_variant,p.Cys117Gly,ENST00000382068,;AMACR,missense_variant,p.Cys117Gly,ENST00000335606,;AMACR,non_coding_transcript_exon_variant,,ENST00000514195,;AMACR,missense_variant,p.Cys117Gly,ENST00000506639,;RP11-1084J3.4,missense_variant,p.Leu264Arg,ENST00000382079,;	358	34	31	SUCCESS
AHRR	57491	.	GRCh37	5	427999	427999	+	synonymous_variant	Silent	SNP	G	G	A	rs769858803	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	17	86	0	ENST00000505113.1:c.798G>A	p.Pro266=	p.P266=	ENST00000505113	NM_001242412.1	266	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43297.1	852	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCGGCT	NONE	byFrequency	.	hmmpanther:PTHR10649,hmmpanther:PTHR10649:SF3	.	.	ENSP00000323816	.	9/12	.	.	.	.	.	.	.	.	rs769858803	9/12	PASS	ENST00000316418	Transcript	.	.	ENSG00000063438	346	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AHRR_HUMAN	AHRR	HGNC	E5RGQ2_HUMAN,E5RFG4_HUMAN	.	UPI00004572BE	SNV	AHRR,synonymous_variant,p.%3D,ENST00000505113,;AHRR,synonymous_variant,p.%3D,ENST00000506456,;AHRR,synonymous_variant,p.%3D,ENST00000512529,;AHRR,synonymous_variant,p.%3D,ENST00000316418,;AHRR,upstream_gene_variant,,ENST00000511487,;AHRR,upstream_gene_variant,,ENST00000507048,;AHRR,downstream_gene_variant,,ENST00000510910,;	896	86	118	SUCCESS
PPAP2A	0	.	GRCh37	5	54830484	54830484	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	24	0	ENST00000307259.8:c.-27C>G		p.*9*	ENST00000307259	NM_003711.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34160.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGGCGAT	NONE	.	.	.	.	.	ENSP00000264775	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000264775	Transcript	.	.	ENSG00000067113	9228	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPP1_HUMAN	PPAP2A	HGNC	.	.	UPI0000150635	SNV	PPAP2A,5_prime_UTR_variant,,ENST00000264775,;PPAP2A,5_prime_UTR_variant,,ENST00000307259,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000515132,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000502907,;PPAP2A,5_prime_UTR_variant,,ENST00000509667,;RNF138P1,upstream_gene_variant,,ENST00000502765,;	314	24	19	SUCCESS
AP3B1	8546	.	GRCh37	5	77298849	77298849	+	synonymous_variant	Silent	SNP	T	T	C	rs772549509	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	37	0	ENST00000255194.6:c.3162A>G	p.Ser1054=	p.S1054=	ENST00000255194		1054	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4041.1	3162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAATGACCC	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,PIRSF_domain:PIRSF037096,SMART_domains:SM01020	.	.	ENSP00000255194	.	27/27	.	.	.	.	.	.	.	.	rs772549509	27/27	PASS	ENST00000255194	Transcript	1	.	ENSG00000132842	566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP3B1_HUMAN	AP3B1	HGNC	E5RJ68_HUMAN	.	UPI00001AE77D	SNV	AP3B1,synonymous_variant,p.%3D,ENST00000255194,;AP3B1,synonymous_variant,p.%3D,ENST00000519295,;AP3B1,3_prime_UTR_variant,,ENST00000522901,;AP3B1,non_coding_transcript_exon_variant,,ENST00000520122,;	3338	37	41	SUCCESS
AIM1	0	.	GRCh37	6	106967133	106967133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	130	0	ENST00000369066.3:c.826T>C	p.Phe276Leu	p.F276L	ENST00000369066	NM_001624.2	276	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS34506.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATTTGAA	NONE	.	.	hmmpanther:PTHR11818:SF2,hmmpanther:PTHR11818	.	.	ENSP00000358062	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000369066	Transcript	.	.	ENSG00000112297	356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	AIM1_HUMAN	AIM1	HGNC	B3KPT0_HUMAN	.	UPI000013C91D	SNV	AIM1,missense_variant,p.Phe276Leu,ENST00000369066,;	1313	130	92	SUCCESS
KIAA1244	0	.	GRCh37	6	138655844	138655844	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	45	0	ENST00000251691.4:c.5861G>C	p.Gly1954Ala	p.G1954A	ENST00000251691	NM_020340.4	1954	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS5189.2	5861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGCTTCT	NONE	.	.	hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	33/34	.	.	.	.	.	.	.	.	.	33/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	tolerated(0.2)	.	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,missense_variant,p.Gly1954Ala,ENST00000251691,;	6027	45	40	SUCCESS
JARID2	3720	.	GRCh37	6	15468865	15468865	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	93	0	ENST00000341776.2:c.586A>C	p.Lys196Gln	p.K196Q	ENST00000341776	NM_004973.3	196	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS4533.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCAAAACA	NONE	.	.	hmmpanther:PTHR10694	.	.	ENSP00000341280	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	tolerated(0.1)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Lys24Gln,ENST00000397311,;JARID2,missense_variant,p.Lys158Gln,ENST00000541660,;JARID2,missense_variant,p.Lys196Gln,ENST00000341776,;	830	93	78	SUCCESS
ACAT2	39	.	GRCh37	6	160197285	160197285	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	85	0	ENST00000367048.4:c.738C>T	p.Val246=	p.V246=	ENST00000367048	NM_005891.2	246	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5268.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCACCCC	NONE	.	.	hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,TIGRFAM_domain:TIGR01930,Pfam_domain:PF00108,Gene3D:3.40.47.10,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000356015	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,synonymous_variant,p.%3D,ENST00000541436,;ACAT2,synonymous_variant,p.%3D,ENST00000367048,;TCP1,downstream_gene_variant,,ENST00000392168,;TCP1,downstream_gene_variant,,ENST00000321394,;TCP1,downstream_gene_variant,,ENST00000539756,;TCP1,downstream_gene_variant,,ENST00000544255,;TCP1,downstream_gene_variant,,ENST00000420894,;SNORA20,downstream_gene_variant,,ENST00000384662,;ACAT2,non_coding_transcript_exon_variant,,ENST00000472052,;ACAT2,downstream_gene_variant,,ENST00000467951,;TCP1,downstream_gene_variant,,ENST00000546204,;TCP1,downstream_gene_variant,,ENST00000536807,;	2498	85	57	SUCCESS
SERPINB6	5269	.	GRCh37	6	2954826	2954826	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	43	0	ENST00000335686.5:c.430G>A	p.Gly144Ser	p.G144S	ENST00000335686	NM_001271824.1	144	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS4479.1	430	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCTTCTG	NONE	.	.	hmmpanther:PTHR11461:SF69,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000369891	.	3/6	.	.	.	.	.	.	.	.	COSM1672203	3/6	PASS	ENST00000380520	Transcript	.	.	ENSG00000124570	8950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.464)	.	deleterious(0.01)	1	SPB6_HUMAN	SERPINB6	HGNC	Q8IXH2_HUMAN	.	UPI000013FEA1	SNV	SERPINB6,missense_variant,p.Gly144Ser,ENST00000335686,;SERPINB6,missense_variant,p.Gly144Ser,ENST00000380524,;SERPINB6,missense_variant,p.Gly144Ser,ENST00000380546,;SERPINB6,missense_variant,p.Gly144Ser,ENST00000380520,;SERPINB6,missense_variant,p.Gly144Ser,ENST00000380539,;SERPINB6,missense_variant,p.Gly144Ser,ENST00000380529,;	2425	43	39	SUCCESS
DDR1	780	.	GRCh37	6	30861167	30861167	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	20	0	ENST00000324771.8:c.1314C>A	p.Leu438=	p.L438=	ENST00000324771		438	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47396.1	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTCTGGCG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF65	.	.	ENSP00000365759	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000376575	Transcript	.	.	ENSG00000204580	2730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDR1_HUMAN	DDR1	HGNC	E7EXB0_HUMAN,E7EX99_HUMAN,E7EVW6_HUMAN,E7EVT1_HUMAN,E7EUD5_HUMAN,E7ETX3_HUMAN,E7ETI3_HUMAN,E7ESR9_HUMAN,E7ES06_HUMAN,E7ERN0_HUMAN,E7ERI6_HUMAN,E7EQ30_HUMAN,E7EQ23_HUMAN,E7EPN2_HUMAN,E7EPH4_HUMAN,E7ENJ2_HUMAN,E7EN94_HUMAN,D6RGW5_HUMAN,D6RBU7_HUMAN,D6RB82_HUMAN,D6RB35_HUMAN,D6R9C4_HUMAN,A2ABL2_HUMAN,A2ABL0_HUMAN	.	UPI0000146C6D	SNV	DDR1,synonymous_variant,p.%3D,ENST00000376567,;DDR1,synonymous_variant,p.%3D,ENST00000508312,;DDR1,synonymous_variant,p.%3D,ENST00000376575,;DDR1,synonymous_variant,p.%3D,ENST00000376569,;DDR1,synonymous_variant,p.%3D,ENST00000418800,;DDR1,synonymous_variant,p.%3D,ENST00000376568,;DDR1,synonymous_variant,p.%3D,ENST00000417521,;DDR1,synonymous_variant,p.%3D,ENST00000324771,;DDR1,synonymous_variant,p.%3D,ENST00000513240,;DDR1,synonymous_variant,p.%3D,ENST00000376570,;DDR1,synonymous_variant,p.%3D,ENST00000361741,;DDR1,synonymous_variant,p.%3D,ENST00000452441,;DDR1,synonymous_variant,p.%3D,ENST00000454612,;DDR1,3_prime_UTR_variant,,ENST00000446312,;DDR1,downstream_gene_variant,,ENST00000505066,;DDR1,downstream_gene_variant,,ENST00000507901,;DDR1,downstream_gene_variant,,ENST00000507046,;DDR1,downstream_gene_variant,,ENST00000503495,;DDR1,downstream_gene_variant,,ENST00000421124,;DDR1,downstream_gene_variant,,ENST00000504927,;DDR1,downstream_gene_variant,,ENST00000512725,;DDR1,upstream_gene_variant,,ENST00000514434,;DDR1,downstream_gene_variant,,ENST00000504651,;DDR1,downstream_gene_variant,,ENST00000502955,;DDR1,downstream_gene_variant,,ENST00000460944,;DDR1,downstream_gene_variant,,ENST00000504679,;DDR1,upstream_gene_variant,,ENST00000484556,;DDR1,downstream_gene_variant,,ENST00000513043,;DDR1,downstream_gene_variant,,ENST00000412274,;DDR1,downstream_gene_variant,,ENST00000515881,;DDR1,downstream_gene_variant,,ENST00000505534,;DDR1,downstream_gene_variant,,ENST00000515233,;DDR1,downstream_gene_variant,,ENST00000503670,;DDR1,downstream_gene_variant,,ENST00000424544,;DDR1,downstream_gene_variant,,ENST00000515219,;DDR1,downstream_gene_variant,,ENST00000508317,;DDR1,downstream_gene_variant,,ENST00000503180,;DDR1,downstream_gene_variant,,ENST00000512336,;DDR1,downstream_gene_variant,,ENST00000512694,;DDR1,downstream_gene_variant,,ENST00000511510,;DDR1,downstream_gene_variant,,ENST00000396342,;DDR1,downstream_gene_variant,,ENST00000428153,;DDR1,downstream_gene_variant,,ENST00000437124,;DDR1,downstream_gene_variant,,ENST00000509639,;MIR4640,downstream_gene_variant,,ENST00000581824,;DDR1,non_coding_transcript_exon_variant,,ENST00000513514,;DDR1,non_coding_transcript_exon_variant,,ENST00000465966,;DDR1,downstream_gene_variant,,ENST00000508472,;DDR1,3_prime_UTR_variant,,ENST00000482873,;DDR1,downstream_gene_variant,,ENST00000513243,;DDR1,downstream_gene_variant,,ENST00000513749,;DDR1,downstream_gene_variant,,ENST00000507533,;DDR1,downstream_gene_variant,,ENST00000504152,;DDR1,downstream_gene_variant,,ENST00000514534,;DDR1,downstream_gene_variant,,ENST00000431373,;DDR1,downstream_gene_variant,,ENST00000485023,;DDR1,downstream_gene_variant,,ENST00000503628,;	1647	20	21	SUCCESS
AGPAT1	10554	.	GRCh37	6	32138234	32138234	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	38	0	ENST00000336984.6:c.478T>C	p.Ser160Pro	p.S160P	ENST00000336984	NM_032741.4	160	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4744.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGACATGA	NONE	.	.	hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF1,Pfam_domain:PF01553,Gene3D:1iuqA02,TIGRFAM_domain:TIGR00530,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000378877	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395499	Transcript	.	.	ENSG00000204310	324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.435)	.	deleterious(0.01)	.	PLCA_HUMAN	AGPAT1	HGNC	Q9HBM8_HUMAN,Q71VH6_HUMAN	.	UPI0000131BD2	SNV	AGPAT1,missense_variant,p.Ser160Pro,ENST00000395496,;AGPAT1,missense_variant,p.Ser160Pro,ENST00000375107,;AGPAT1,missense_variant,p.Ser160Pro,ENST00000395499,;AGPAT1,missense_variant,p.Ser160Pro,ENST00000375104,;AGPAT1,missense_variant,p.Ser160Pro,ENST00000395497,;AGPAT1,missense_variant,p.Ser160Pro,ENST00000336984,;AGPAT1,missense_variant,p.Ser48Pro,ENST00000412465,;EGFL8,downstream_gene_variant,,ENST00000395512,;EGFL8,downstream_gene_variant,,ENST00000333845,;EGFL8,downstream_gene_variant,,ENST00000432129,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;AGPAT1,non_coding_transcript_exon_variant,,ENST00000476663,;AGPAT1,intron_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,downstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;EGFL8,downstream_gene_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;EGFL8,downstream_gene_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;	1058	38	33	SUCCESS
CAPN11	11131	.	GRCh37	6	44137245	44137245	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	37	143	0	ENST00000398776.1:c.316A>G	p.Asn106Asp	p.N106D	ENST00000398776	NM_007058.3	106	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS47436.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGAACATC	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF269,hmmpanther:PTHR10183,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000381758	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000398776	Transcript	.	.	ENSG00000137225	1478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.08)	.	CAN11_HUMAN	CAPN11	HGNC	.	.	UPI00000383D5	SNV	CAPN11,missense_variant,p.Asn106Asp,ENST00000398776,;CAPN11,missense_variant,p.Asn106Asp,ENST00000542245,;CAPN11,missense_variant,p.Asn136Asp,ENST00000532171,;CAPN11,3_prime_UTR_variant,,ENST00000526118,;	354	143	111	SUCCESS
DST	667	.	GRCh37	6	56468670	56468670	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	74	0	ENST00000244364.6:c.3673-3651A>G		p.*1225*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTAGACC	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	25/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Lys3049Glu,ENST00000439203,;DST,missense_variant,p.Lys3049Glu,ENST00000446842,;DST,missense_variant,p.Lys3553Glu,ENST00000370754,;DST,missense_variant,p.Lys3375Glu,ENST00000361203,;DST,missense_variant,p.Lys3375Glu,ENST00000370769,;DST,missense_variant,p.Lys3375Glu,ENST00000312431,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000421834,;	.	74	55	SUCCESS
DSP	1832	.	GRCh37	6	7576541	7576541	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	101	0	ENST00000379802.3:c.2645A>G	p.Glu882Gly	p.E882G	ENST00000379802	NM_004415.2	882	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4501.1	2645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAGAAAC	NONE	.	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,missense_variant,p.Glu882Gly,ENST00000379802,;DSP,missense_variant,p.Glu882Gly,ENST00000418664,;	2986	101	79	SUCCESS
HOXA5	3202	.	GRCh37	7	27183054	27183054	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	30	0	ENST00000222726.3:c.173G>A	p.Arg58His	p.R58H	ENST00000222726	NM_019102.3	58	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5406.1	173	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCGGCCG	NONE	.	.	hmmpanther:PTHR24326:SF166,hmmpanther:PTHR24326	.	.	ENSP00000222726	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222726	Transcript	.	.	ENSG00000106004	5106	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	tolerated(0.08)	.	HXA5_HUMAN	HOXA5	HGNC	.	.	UPI000006CEBE	SNV	HOXA5,missense_variant,p.Arg58His,ENST00000222726,;HOXA3,upstream_gene_variant,,ENST00000522788,;HOXA6,downstream_gene_variant,,ENST00000222728,;HOXA3,upstream_gene_variant,,ENST00000521779,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,upstream_gene_variant,,ENST00000521401,;HOXA6,downstream_gene_variant,,ENST00000521478,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	234	30	30	SUCCESS
SLC29A4	222962	.	GRCh37	7	5331370	5331370	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140428222	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	62	0	ENST00000297195.4:c.462C>A	p.Asp154Glu	p.D154E	ENST00000297195	NM_001040661.1	154	gaC/gaA	0	T:0.0002	.	.	.	.	A	D/E	protein_coding	YES	CCDS5340.1	462	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGACGTGTG	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10332:SF4,hmmpanther:PTHR10332,Superfamily_domains:SSF103473	.	T:0.0001	ENSP00000380081	.	5/11	.	.	.	.	.	.	.	.	rs140428222	5/11	PASS	ENST00000396872	Transcript	.	.	ENSG00000164638	23097	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.67)	.	S29A4_HUMAN	SLC29A4	HGNC	C9IYM7_HUMAN	.	UPI0000051F6F	SNV	SLC29A4,missense_variant,p.Asp154Glu,ENST00000297195,;SLC29A4,missense_variant,p.Asp154Glu,ENST00000434816,;SLC29A4,missense_variant,p.Asp154Glu,ENST00000396872,;SLC29A4,missense_variant,p.Thr142Lys,ENST00000406453,;SLC29A4,missense_variant,p.Thr142Lys,ENST00000444741,;	623	63	52	SUCCESS
ZNF736	728927	.	GRCh37	7	63796756	63796756	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	25	0	ENST00000355095.4:c.123C>G	p.Val41=	p.V41=	ENST00000355095	NM_001170905.1	41	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS55114.1	123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTCCTT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000400852	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000423484	Transcript	.	.	ENSG00000234444	32467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN736_HUMAN	ZNF736	HGNC	.	.	UPI0001662442	SNV	ZNF736,synonymous_variant,p.%3D,ENST00000423484,;ZNF736,synonymous_variant,p.%3D,ENST00000355095,;ZNF736,downstream_gene_variant,,ENST00000438373,;ZNF736,non_coding_transcript_exon_variant,,ENST00000488621,;	245	25	23	SUCCESS
ZNF107	51427	.	GRCh37	7	64167242	64167242	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199803183	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	58	0	ENST00000344930.3:c.560C>A	p.Pro187His	p.P187H	ENST00000344930	NM_001013746.1	187	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS5527.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACCCAACA	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,PROSITE_profiles:PS50157	.	.	ENSP00000378789	.	4/4	.	.	.	.	.	.	.	.	rs199803183,COSM3640024	4/4	PASS	ENST00000395391	Transcript	.	.	ENSG00000196247	12887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.04)	.	deleterious(0.01)	0,1	ZN107_HUMAN	ZNF107	HGNC	Q9H3U2_HUMAN,C9JSF9_HUMAN	.	UPI000000DBC2	SNV	ZNF107,missense_variant,p.Pro187His,ENST00000344930,;ZNF107,missense_variant,p.Pro187His,ENST00000395391,;ZNF107,missense_variant,p.Pro187His,ENST00000423627,;ZNF107,downstream_gene_variant,,ENST00000360117,;	1935	58	69	SUCCESS
DLC1	10395	.	GRCh37	8	12957573	12957573	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	26	0	ENST00000276297.4:c.2273C>T	p.Pro758Leu	p.P758L	ENST00000276297	NM_182643.2	758	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS5989.1	2273	MUTECT|MUSE	.	TAACAGGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2	.	.	ENSP00000276297	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000276297	Transcript	.	.	ENSG00000164741	2897	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	RHG07_HUMAN	DLC1	HGNC	.	.	UPI0000210275	SNV	DLC1,missense_variant,p.Pro321Leu,ENST00000358919,;DLC1,missense_variant,p.Pro355Leu,ENST00000512044,;DLC1,missense_variant,p.Pro758Leu,ENST00000276297,;DLC1,missense_variant,p.Pro247Leu,ENST00000520226,;DLC1,downstream_gene_variant,,ENST00000503161,;DLC1,downstream_gene_variant,,ENST00000515225,;DLC1,downstream_gene_variant,,ENST00000509922,;DLC1,upstream_gene_variant,,ENST00000510318,;DLC1,upstream_gene_variant,,ENST00000513883,;DLC1,non_coding_transcript_exon_variant,,ENST00000510250,;	2683	26	9	SUCCESS
WRN	7486	.	GRCh37	8	31030549	31030549	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	74	0	ENST00000298139.5:c.4230G>A	p.Trp1410Ter	p.W1410*	ENST00000298139	NM_000553.4	1410	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS6082.1	4230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGTTTGC	NONE	.	.	.	.	.	ENSP00000298139	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000298139	Transcript	1	.	ENSG00000165392	12791	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WRN_HUMAN	WRN	HGNC	.	.	UPI000013E49D	SNV	WRN,stop_gained,p.Trp1410Ter,ENST00000298139,;RP11-363L24.3,intron_variant,,ENST00000521252,;RP11-363L24.3,intron_variant,,ENST00000523365,;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	4479	74	32	SUCCESS
ADAM18	8749	.	GRCh37	8	39506032	39506032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	124	1	ENST00000265707.5:c.1216T>A	p.Cys406Ser	p.C406S	ENST00000265707	NM_014237.2	406	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS6113.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACTGTGGT	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:3.40.390.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000265707	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Cys406Ser,ENST00000265707,;ADAM18,missense_variant,p.Cys382Ser,ENST00000379866,;ADAM18,intron_variant,,ENST00000541111,;ADAM18,intron_variant,,ENST00000520087,;	1261	125	61	SUCCESS
DNAJC5B	85479	.	GRCh37	8	66992665	66992665	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	23	76	0	ENST00000276570.5:c.387G>T	p.Leu129=	p.L129=	ENST00000276570	NM_033105.4	129	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6183.1	387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF162	.	.	ENSP00000276570	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000276570	Transcript	.	.	ENSG00000147570	24138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJ5B_HUMAN	DNAJC5B	HGNC	E5RGF4_HUMAN	.	UPI0000050F10	SNV	DNAJC5B,synonymous_variant,p.%3D,ENST00000276570,;DNAJC5B,downstream_gene_variant,,ENST00000522619,;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000524076,;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000519330,;	674	76	101	SUCCESS
JPH1	56704	.	GRCh37	8	75227318	75227318	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	30	122	0	ENST00000342232.4:c.917G>C	p.Gly306Ala	p.G306A	ENST00000342232	NM_020647.2	306	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS6217.1	917	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCCTTCA	NONE	.	.	hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,Gene3D:1h3iA01,Pfam_domain:PF02493,SMART_domains:SM00698,PIRSF_domain:PIRSF037387,Superfamily_domains:0038399	.	.	ENSP00000344488	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	SNV	JPH1,missense_variant,p.Gly306Ala,ENST00000342232,;JPH1,3_prime_UTR_variant,,ENST00000519947,;	958	122	158	SUCCESS
GBGT1	26301	.	GRCh37	9	136031360	136031360	+	intron_variant	Intron	SNP	C	C	T	rs781345868	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	89	0	ENST00000372040.3:c.189-37G>A		p.*63*	ENST00000372040				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6960.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCACCC	NONE	.	.	.	.	.	ENSP00000361110	.	.	.	.	.	.	.	.	.	.	rs781345868	.	PASS	ENST00000372040	Transcript	.	.	ENSG00000148288	20460	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBGT1_HUMAN	GBGT1	HGNC	J7Q0Z1_HUMAN,J7PW20_HUMAN	.	UPI000013DB02	SNV	GBGT1,intron_variant,,ENST00000372040,;GBGT1,intron_variant,,ENST00000372038,;GBGT1,intron_variant,,ENST00000540636,;GBGT1,intron_variant,,ENST00000372043,;RALGDS,intron_variant,,ENST00000542690,;GBGT1,downstream_gene_variant,,ENST00000372036,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;GBGT1,intron_variant,,ENST00000470431,;	.	89	48	SUCCESS
CCDC171	203238	.	GRCh37	9	15777776	15777776	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	67	0	ENST00000380701.3:c.2850A>G	p.Val950=	p.V950=	ENST00000380701	NM_173550.2	950	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6481.1	2850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTAAACAC	NONE	.	.	.	.	.	ENSP00000370077	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000380701	Transcript	.	.	ENSG00000164989	29828	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC171_HUMAN	CCDC171	HGNC	Q8NCV3_HUMAN	.	UPI000021C44B	SNV	CCDC171,synonymous_variant,p.%3D,ENST00000297641,;CCDC171,synonymous_variant,p.%3D,ENST00000380701,;CCDC171,synonymous_variant,p.%3D,ENST00000432954,;CCDC171,synonymous_variant,p.%3D,ENST00000449575,;RNU6-14P,upstream_gene_variant,,ENST00000384630,;	3178	67	57	SUCCESS
CNTLN	54875	.	GRCh37	9	17342344	17342344	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs773147634	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	41	178	0	ENST00000380647.3:c.1788G>T	p.Lys596Asn	p.K596N	ENST00000380647		596	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS43789.1	1788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAAGAGAGC	NONE	.	.	hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	12/26	.	.	.	.	.	.	.	.	rs773147634	12/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.316)	.	deleterious(0.01)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Lys596Asn,ENST00000425824,;CNTLN,missense_variant,p.Lys596Asn,ENST00000262360,;CNTLN,missense_variant,p.Lys596Asn,ENST00000380647,;	1872	178	131	SUCCESS
TLN1	7094	.	GRCh37	9	35703574	35703574	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs370983784	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	62	0	ENST00000314888.9:c.6457A>T	p.Ile2153Leu	p.I2153L	ENST00000314888	NM_006289.3	2153	Ata/Tta	0	C:0	.	.	.	.	A	I/L	protein_coding	YES	CCDS35009.1	6457	RADIA|VARSCANS	.	CCGTATGTGTT	NONE	byCluster	.	Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	C:0.0001	ENSP00000316029	.	48/57	.	.	.	.	.	.	.	.	rs370983784	48/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Ile2047Leu,ENST00000540444,;TLN1,missense_variant,p.Ile2153Leu,ENST00000314888,;TLN1,non_coding_transcript_exon_variant,,ENST00000464379,;TLN1,upstream_gene_variant,,ENST00000489255,;TLN1,downstream_gene_variant,,ENST00000495712,;TLN1,non_coding_transcript_exon_variant,,ENST00000466916,;TLN1,downstream_gene_variant,,ENST00000486788,;TLN1,downstream_gene_variant,,ENST00000465002,;	6811	62	34	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39086473	39086473	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	34	0	ENST00000297668.6:c.3354+240A>T		p.*1118*	ENST00000297668	NM_033655.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6616.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGTAAAAT	NONE	.	.	.	.	.	ENSP00000297668	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODIFIER	20/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,3_prime_UTR_variant,,ENST00000358144,;CNTNAP3,intron_variant,,ENST00000297668,;CNTNAP3,intron_variant,,ENST00000377656,;CNTNAP3,intron_variant,,ENST00000493965,;CNTNAP3,upstream_gene_variant,,ENST00000477002,;	.	34	25	SUCCESS
BTK	695	.	GRCh37	X	100608970	100608970	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	54	0	ENST00000308731.7:c.1638C>G	p.Val546=	p.V546=	ENST00000308731	NM_000061.2	546	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS14482.1	1638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGACATA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF92,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000308176	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000308731	Transcript	.	.	ENSG00000010671	1133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTK_HUMAN	BTK	HGNC	Q9P0L4_HUMAN,Q3MS96_HUMAN	.	UPI0000126B16	SNV	BTK,synonymous_variant,p.%3D,ENST00000372880,;BTK,synonymous_variant,p.%3D,ENST00000308731,;TIMM8A,upstream_gene_variant,,ENST00000372902,;BTK,non_coding_transcript_exon_variant,,ENST00000470069,;BTK,non_coding_transcript_exon_variant,,ENST00000488970,;BTK,downstream_gene_variant,,ENST00000478995,;BTK,downstream_gene_variant,,ENST00000470329,;	1802	54	53	SUCCESS
HTR2C	3358	.	GRCh37	X	114141284	114141284	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	41	156	0	ENST00000276198.1:c.683C>G	p.Thr228Arg	p.T228R	ENST00000276198	NM_000868.2	228	aCg/aGg	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS14564.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACGATTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000276198	.	6/6	.	.	.	.	.	.	.	.	COSM1113418	6/6	PASS	ENST00000276198	Transcript	.	.	ENSG00000147246	5295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.926)	.	tolerated(0.1)	1	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,missense_variant,p.Asp196Glu,ENST00000371950,;HTR2C,missense_variant,p.Thr228Arg,ENST00000276198,;HTR2C,missense_variant,p.Thr228Arg,ENST00000371951,;	1411	156	111	SUCCESS
UPF3B	65109	.	GRCh37	X	118971720	118971720	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	54	0	ENST00000276201.2:c.1302G>C	p.Lys434Asn	p.K434N	ENST00000276201	NM_080632.2	434	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS14588.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCTTGTT	NONE	.	.	hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF1	.	.	ENSP00000276201	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000276201	Transcript	.	.	ENSG00000125351	20439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	REN3B_HUMAN	UPF3B	HGNC	I3XIE4_HUMAN	.	UPI000006D21C	SNV	UPF3B,missense_variant,p.Lys421Asn,ENST00000345865,;UPF3B,missense_variant,p.Lys434Asn,ENST00000276201,;UPF3B,downstream_gene_variant,,ENST00000478840,;	1372	54	52	SUCCESS
TLR8	51311	.	GRCh37	X	12937389	12937389	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs745722261	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	95	376	0	ENST00000218032.6:c.230A>G	p.His77Arg	p.H77R	ENST00000218032	NM_138636.4	77	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14152.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACACATAA	NONE	byFrequency	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	rs745722261	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.63)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.His95Arg,ENST00000311912,;TLR8,missense_variant,p.His77Arg,ENST00000218032,;	317	376	288	SUCCESS
PHF6	84295	.	GRCh37	X	133527969	133527969	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	116	339	3	ENST00000332070.3:c.405A>T	p.Ala135=	p.A135=	ENST00000332070	NM_032458.2	135	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14639.1	405	RADIA|VARSCANS	.	ACTGCACATAA	NONE	.	.	Gene3D:3.30.40.10,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF5	.	.	ENSP00000329097	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000332070	Transcript	.	.	ENSG00000156531	18145	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHF6_HUMAN	PHF6	HGNC	B4E138_HUMAN	.	UPI0000074487	SNV	PHF6,synonymous_variant,p.%3D,ENST00000394292,;PHF6,synonymous_variant,p.%3D,ENST00000370799,;PHF6,synonymous_variant,p.%3D,ENST00000332070,;PHF6,synonymous_variant,p.%3D,ENST00000416404,;PHF6,synonymous_variant,p.%3D,ENST00000370800,;PHF6,synonymous_variant,p.%3D,ENST00000370803,;	607	342	289	SUCCESS
GEMIN8	54960	.	GRCh37	X	14027290	14027290	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	99	0	ENST00000380523.4:c.473-2A>T		p.X158_splice	ENST00000380523	NM_017856.2	158		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14159.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTGAGAA	BUFFER|p.R159Q|c.476G>A|3	.	.	.	.	.	ENSP00000369895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380523	Transcript	.	.	ENSG00000046647	26044	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEMI8_HUMAN	GEMIN8	HGNC	H7BYE2_HUMAN	.	UPI0000070657	SNV	GEMIN8,splice_acceptor_variant,,ENST00000332885,;GEMIN8,splice_acceptor_variant,,ENST00000380523,;GEMIN8,splice_acceptor_variant,,ENST00000398355,;	.	99	75	SUCCESS
SLC10A3	8273	.	GRCh37	X	153715955	153715955	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	122	0	ENST00000263512.4:c.1325C>A	p.Ala442Asp	p.A442D	ENST00000263512	NM_019848.3	442	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS14755.1	1325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGCTTGA	NONE	.	.	TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF3	.	.	ENSP00000263512	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000263512	Transcript	.	.	ENSG00000126903	22979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	P3_HUMAN	SLC10A3	HGNC	Q5HY78_HUMAN	.	UPI0000131021	SNV	SLC10A3,missense_variant,p.Ala442Asp,ENST00000393587,;SLC10A3,missense_variant,p.Ala442Asp,ENST00000263512,;SLC10A3,missense_variant,p.Ala413Asp,ENST00000369649,;SLC10A3,missense_variant,p.Ala497Asp,ENST00000393586,;UBL4A,upstream_gene_variant,,ENST00000369660,;UBL4A,upstream_gene_variant,,ENST00000369653,;SLC10A3,downstream_gene_variant,,ENST00000453912,;UBL4A,upstream_gene_variant,,ENST00000477777,;UBL4A,upstream_gene_variant,,ENST00000481237,;UBL4A,upstream_gene_variant,,ENST00000421431,;UBL4A,upstream_gene_variant,,ENST00000417913,;	1824	122	119	SUCCESS
PDK3	5165	.	GRCh37	X	24513001	24513001	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	103	0	ENST00000379162.4:c.248+1G>C		p.X83_splice	ENST00000379162	NM_005391.4	83		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48088.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGGTAAGT	NONE	.	.	.	.	.	ENSP00000387536	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000441463	Transcript	.	.	ENSG00000067992	8811	.	.	HIGH	2/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDK3_HUMAN	PDK3	HGNC	.	.	UPI00002124D4	SNV	PDK3,splice_donor_variant,,ENST00000379162,;PDK3,splice_donor_variant,,ENST00000441463,;PDK3,splice_donor_variant,,ENST00000493226,;	.	103	71	SUCCESS
TFE3	7030	.	GRCh37	X	48895554	48895554	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	42	129	0	ENST00000315869.7:c.866G>A	p.Gly289Glu	p.G289E	ENST00000315869	NM_006521.4	289	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS14315.3	866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCCTGTG	NONE	.	.	hmmpanther:PTHR10014:SF37,hmmpanther:PTHR10014	.	.	ENSP00000314129	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000315869	Transcript	.	.	ENSG00000068323	11752	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	tolerated(0.19)	.	TFE3_HUMAN	TFE3	HGNC	B4DIA5_HUMAN	.	UPI0000117AE8	SNV	TFE3,missense_variant,p.Gly289Glu,ENST00000315869,;TFE3,non_coding_transcript_exon_variant,,ENST00000487451,;TFE3,non_coding_transcript_exon_variant,,ENST00000481606,;TFE3,3_prime_UTR_variant,,ENST00000493583,;	1126	129	120	SUCCESS
MAGED1	9500	.	GRCh37	X	51639742	51639742	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782639348	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	142	0	ENST00000326587.7:c.991G>A	p.Ala331Thr	p.A331T	ENST00000326587	NM_006986.3	331	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS35279.1	1159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGCCTGG	NONE	byFrequency	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF28	.	.	ENSP00000364847	.	5/14	.	.	.	.	.	.	.	.	rs782639348	5/14	PASS	ENST00000375695	Transcript	.	.	ENSG00000179222	6813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	.	MAGD1_HUMAN	MAGED1	HGNC	.	.	UPI0000074161	SNV	MAGED1,missense_variant,p.Ala331Thr,ENST00000326587,;MAGED1,missense_variant,p.Ala331Thr,ENST00000375722,;MAGED1,missense_variant,p.Ala387Thr,ENST00000375695,;MAGED1,missense_variant,p.Ala331Thr,ENST00000375772,;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,downstream_gene_variant,,ENST00000482188,;MAGED1,downstream_gene_variant,,ENST00000470461,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,downstream_gene_variant,,ENST00000482599,;	1312	142	105	SUCCESS
CPXCR1	53336	.	GRCh37	X	88008954	88008954	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	172	0	ENST00000276127.4:c.539G>A	p.Cys180Tyr	p.C180Y	ENST00000276127	NM_033048.5	180	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS14458.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGTCTTT	NONE	.	.	.	.	.	ENSP00000276127	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000276127	Transcript	.	.	ENSG00000147183	2332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0.04)	.	CPXCR_HUMAN	CPXCR1	HGNC	.	.	UPI000007369F	SNV	CPXCR1,missense_variant,p.Cys180Tyr,ENST00000276127,;CPXCR1,missense_variant,p.Cys180Tyr,ENST00000373111,;	798	172	134	SUCCESS
CNNM2	54805	.	GRCh37	10	104687150	104687150	+	intron_variant	Intron	SNP	C	C	T	rs201050123	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	69	0	ENST00000369878.4:c.1621+7292C>T		p.*541*	ENST00000369878	NM_017649.4			0	T:0	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS44474.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACAATAA	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000358894	T:0.001	.	.	.	.	.	.	.	.	.	rs201050123	.	PASS	ENST00000369878	Transcript	1	T:0.0002	ENSG00000148842	103	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CNNM2_HUMAN	CNNM2	HGNC	.	.	UPI0000231CA6	SNV	CNNM2,3_prime_UTR_variant,,ENST00000369875,;CNNM2,intron_variant,,ENST00000369878,;CNNM2,intron_variant,,ENST00000433628,;	.	69	59	SUCCESS
ABLIM1	3983	.	GRCh37	10	116417809	116417809	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760288341	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	55	0	ENST00000277895.5:c.151G>T	p.Ala51Ser	p.A51S	ENST00000277895	NM_002313.5	51	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS7590.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGCGGTGA	NONE	byFrequency	.	.	.	.	ENSP00000277895	.	1/23	.	.	.	.	.	.	.	.	rs760288341,COSM1345951	1/23	PASS	ENST00000277895	Transcript	.	.	ENSG00000099204	78	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.061)	.	tolerated_low_confidence(0.11)	0,1	ABLM1_HUMAN	ABLIM1	HGNC	.	.	UPI0000418D06	SNV	ABLIM1,missense_variant,p.Ala51Ser,ENST00000277895,;ABLIM1,intron_variant,,ENST00000533213,;ABLIM1,intron_variant,,ENST00000369252,;snoU13,downstream_gene_variant,,ENST00000458910,;ABLIM1,intron_variant,,ENST00000392955,;ABLIM1,intron_variant,,ENST00000369256,;	249	55	49	SUCCESS
ARHGAP12	94134	.	GRCh37	10	32150410	32150410	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	27	115	0	ENST00000344936.2:c.861G>C	p.Gly287=	p.G287=	ENST00000344936	NM_001270697.1	287	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS7170.1	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCCCTCT	NONE	.	.	Superfamily_domains:SSF51045,SMART_domains:SM00456,Pfam_domain:PF00397,Gene3D:2.20.70.10,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF3,PROSITE_profiles:PS50020	.	.	ENSP00000345808	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000344936	Transcript	.	.	ENSG00000165322	16348	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG12_HUMAN	ARHGAP12	HGNC	D3DRX4_HUMAN	.	UPI000007445E	SNV	ARHGAP12,synonymous_variant,p.%3D,ENST00000375245,;ARHGAP12,synonymous_variant,p.%3D,ENST00000344936,;ARHGAP12,synonymous_variant,p.%3D,ENST00000375250,;ARHGAP12,synonymous_variant,p.%3D,ENST00000396144,;ARHGAP12,synonymous_variant,p.%3D,ENST00000311380,;	1096	115	112	SUCCESS
FBXO18	0	.	GRCh37	10	5948208	5948208	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772117133	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	28	0	ENST00000379999.5:c.519G>T	p.Lys173Asn	p.K173N	ENST00000379999	NM_032807.4	173	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7073.1	519	RADIA|VARSCANS	.	AGGAAGCGGTC	NONE	.	.	.	.	.	ENSP00000369335	.	4/22	.	.	.	.	.	.	.	.	rs772117133	4/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0.03)	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,missense_variant,p.Lys122Asn,ENST00000362091,;FBXO18,missense_variant,p.Lys173Asn,ENST00000379999,;FBXO18,5_prime_UTR_variant,,ENST00000397269,;FBXO18,non_coding_transcript_exon_variant,,ENST00000470089,;FBXO18,non_coding_transcript_exon_variant,,ENST00000469009,;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,upstream_gene_variant,,ENST00000494526,;	623	28	29	SUCCESS
MICU1	10367	.	GRCh37	10	74326487	74326487	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757632383	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	69	0	ENST00000361114.5:c.65G>T	p.Gly22Val	p.G22V	ENST00000361114	NM_001195518.1	22	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS55715.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCCATGG	NONE	.	.	hmmpanther:PTHR12294:SF1,hmmpanther:PTHR12294	.	.	ENSP00000354415	.	2/12	.	.	.	.	.	.	.	.	rs757632383	2/12	PASS	ENST00000361114	Transcript	1	.	ENSG00000107745	1530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious_low_confidence(0.01)	.	MICU1_HUMAN	MICU1	HGNC	.	.	UPI0000035D9A	SNV	MICU1,missense_variant,p.Gly22Val,ENST00000604238,;MICU1,missense_variant,p.Gly22Val,ENST00000401998,;MICU1,missense_variant,p.Gly22Val,ENST00000398761,;MICU1,missense_variant,p.Gly22Val,ENST00000361114,;MICU1,5_prime_UTR_variant,,ENST00000603011,;MICU1,non_coding_transcript_exon_variant,,ENST00000604025,;	162	69	41	SUCCESS
NUTM2D	728130	.	GRCh37	10	89117886	89117886	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	26	163	1	ENST00000381697.2:c.-137A>T		p.*46*	ENST00000381697				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCACACGCCA	NONE	.	.	.	.	.	ENSP00000396080	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000412718	Transcript	.	.	ENSG00000214562	23447	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTM2D_HUMAN	NUTM2D	HGNC	.	.	UPI0000458AED	SNV	NUTM2D,5_prime_UTR_variant,,ENST00000412718,;NUTM2D,5_prime_UTR_variant,,ENST00000381697,;LINC00863,downstream_gene_variant,,ENST00000439559,;	410	164	136	SUCCESS
CYP2C8	1558	.	GRCh37	10	96796969	96796969	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	86	0	ENST00000371270.3:c.1389T>C	p.Asp463=	p.D463=	ENST00000371270	NM_000770.3	463	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS7438.1	1389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAATCATC	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360317	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371270	Transcript	1	.	ENSG00000138115	2622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2C8_HUMAN	CYP2C8	HGNC	B7Z1F5_HUMAN	.	UPI0000128256	SNV	CYP2C8,synonymous_variant,p.%3D,ENST00000371270,;CYP2C8,synonymous_variant,p.%3D,ENST00000535898,;CYP2C8,downstream_gene_variant,,ENST00000539050,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,3_prime_UTR_variant,,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000531714,;CYP2C8,downstream_gene_variant,,ENST00000479946,;	1484	86	61	SUCCESS
PCF11	51585	.	GRCh37	11	82879585	82879585	+	synonymous_variant	Silent	SNP	G	G	A	rs149809762	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	83	1	ENST00000298281.4:c.2208G>A	p.Leu736=	p.L736=	ENST00000298281	NM_015885.3	736	ctG/ctA	0	.	A:0	.	A:0	.	A	L	protein_coding	YES	CCDS44689.1	2208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGGATAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921	A:0.006	.	ENSP00000298281	A:0	8/16	.	.	.	.	.	.	.	.	rs149809762	8/16	common_in_exac	ENST00000298281	Transcript	.	A:0.0012	ENSG00000165494	30097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PCF11_HUMAN	PCF11	HGNC	E9PKN0_HUMAN	.	UPI00001BB2B7	SNV	PCF11,synonymous_variant,p.%3D,ENST00000298281,;PCF11,synonymous_variant,p.%3D,ENST00000530660,;PCF11,synonymous_variant,p.%3D,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;PCF11,downstream_gene_variant,,ENST00000533018,;	2660	84	54	SUCCESS
TXNRD1	7296	.	GRCh37	12	104645406	104645406	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768936615	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	41	0	ENST00000525566.1:c.193G>A	p.Gly65Ser	p.G65S	ENST00000525566	NM_001093771.2	65	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS53820.1	193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATGGTCAC	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,PROSITE_profiles:PS51354	.	.	ENSP00000434516	.	2/17	.	.	.	.	.	.	.	.	rs768936615	2/17	PASS	ENST00000525566	Transcript	.	.	ENSG00000198431	12437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TRXR1_HUMAN	TXNRD1	HGNC	F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN	.	UPI00015294EE	SNV	TXNRD1,missense_variant,p.Gly65Ser,ENST00000429002,;TXNRD1,missense_variant,p.Gly65Ser,ENST00000525566,;TXNRD1,non_coding_transcript_exon_variant,,ENST00000526006,;TXNRD1,non_coding_transcript_exon_variant,,ENST00000534282,;	217	41	25	SUCCESS
TMEM233	387890	.	GRCh37	12	120031811	120031811	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1431738926	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	76	1	ENST00000426426.1:c.158A>G	p.Asn53Ser	p.N53S	ENST00000426426	NM_001136534.1	53	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS44995.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAACATCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14948:SF19,hmmpanther:PTHR14948,Pfam_domain:PF04505	.	.	ENSP00000403130	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000426426	Transcript	.	.	ENSG00000224982	37219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.08)	.	TM233_HUMAN	TMEM233	HGNC	.	.	UPI00001FBC4E	SNV	TMEM233,missense_variant,p.Asn53Ser,ENST00000426426,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;TMEM233,non_coding_transcript_exon_variant,,ENST00000453450,;	548	77	46	SUCCESS
ANKLE2	23141	.	GRCh37	12	133324833	133324833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	93	0	ENST00000357997.5:c.932C>A	p.Ala311Asp	p.A311D	ENST00000357997	NM_015114.1	311	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS41869.1	932	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGCGGTG	NONE	.	.	hmmpanther:PTHR20976,hmmpanther:PTHR20976:SF1,Superfamily_domains:SSF48403	.	.	ENSP00000350686	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000357997	Transcript	.	.	ENSG00000176915	29101	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	ANKL2_HUMAN	ANKLE2	HGNC	F5H417_HUMAN,F5H2H5_HUMAN,F5H1E7_HUMAN,F5H1D4_HUMAN	.	UPI00001981FB	SNV	ANKLE2,missense_variant,p.Ala81Asp,ENST00000545623,;ANKLE2,missense_variant,p.Ala311Asp,ENST00000337516,;ANKLE2,missense_variant,p.Ala311Asp,ENST00000357997,;ANKLE2,missense_variant,p.Ala249Asp,ENST00000539605,;ANKLE2,5_prime_UTR_variant,,ENST00000546061,;ANKLE2,upstream_gene_variant,,ENST00000535036,;ANKLE2,upstream_gene_variant,,ENST00000538637,;ANKLE2,upstream_gene_variant,,ENST00000538591,;RP13-672B3.5,downstream_gene_variant,,ENST00000539323,;	1022	93	42	SUCCESS
DBX2	440097	.	GRCh37	12	45429822	45429822	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	44	0	ENST00000332700.6:c.479C>G	p.Ala160Gly	p.A160G	ENST00000332700	NM_001004329.2	160	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS31781.1	479	RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGCAGGG	NONE	.	.	hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4	.	.	ENSP00000331470	.	2/4	.	.	.	.	.	.	.	.	COSM548449	2/4	PASS	ENST00000332700	Transcript	.	.	ENSG00000185610	33186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.062)	.	deleterious(0)	1	DBX2_HUMAN	DBX2	HGNC	.	.	UPI000041A784	SNV	DBX2,missense_variant,p.Ala160Gly,ENST00000332700,;	651	44	28	SUCCESS
RARG	5916	.	GRCh37	12	53609161	53609161	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	35	0	ENST00000425354.2:c.391A>G	p.Asn131Asp	p.N131D	ENST00000425354	NM_000966.5	131	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS8850.1	391	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTTTTTGT	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24082:SF116,hmmpanther:PTHR24082,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716	.	.	ENSP00000388510	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000425354	Transcript	.	.	ENSG00000172819	9866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious(0.04)	.	RARG_HUMAN	RARG	HGNC	H3BMY6_HUMAN,H3BMK1_HUMAN,A8K3H3_HUMAN	.	UPI000000105D	SNV	RARG,missense_variant,p.Asn131Asp,ENST00000425354,;RARG,missense_variant,p.Asn59Asp,ENST00000327550,;RARG,missense_variant,p.Asn131Asp,ENST00000394426,;RARG,missense_variant,p.Asn109Asp,ENST00000543726,;RARG,missense_variant,p.Asn120Asp,ENST00000338561,;RARG,non_coding_transcript_exon_variant,,ENST00000543762,;RARG,non_coding_transcript_exon_variant,,ENST00000550265,;RARG,non_coding_transcript_exon_variant,,ENST00000548284,;RARG,upstream_gene_variant,,ENST00000548317,;RARG,upstream_gene_variant,,ENST00000551580,;	879	35	23	SUCCESS
KL	9365	.	GRCh37	13	33628246	33628246	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs774909579	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	73	0	ENST00000380099.3:c.1162C>T	p.Gln388Ter	p.Q388*	ENST00000380099	NM_004795.3	388	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS9347.1	1162	MUTECT|MUSE|VARSCANS	.	TCCGCCAATTG	NONE	byFrequency	.	hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000369442	.	2/5	.	.	.	.	.	.	.	.	rs774909579	2/5	PASS	ENST00000380099	Transcript	.	.	ENSG00000133116	6344	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLOT_HUMAN	KL	HGNC	G3XKV3_HUMAN	.	UPI000013CEBA	SNV	KL,stop_gained,p.Gln81Ter,ENST00000426690,;KL,stop_gained,p.Gln388Ter,ENST00000380099,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;	1170	73	52	SUCCESS
SOHLH2	54937	.	GRCh37	13	36747869	36747869	+	synonymous_variant	Silent	SNP	G	G	A	rs572238180	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	47	0	ENST00000379881.3:c.960C>T	p.Ser320=	p.S320=	ENST00000379881	NM_017826.2	320	tcC/tcT	0	.	A:0	.	A:0.0014	.	A	S	protein_coding	YES	CCDS55896.1	1191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGGAGCA	NONE	by1000G	.	hmmpanther:PTHR16223:SF16,hmmpanther:PTHR16223	A:0	.	ENSP00000451542	A:0	14/16	.	.	.	.	.	.	.	.	rs572238180	14/16	PASS	ENST00000554962	Transcript	.	A:0.0002	ENSG00000120669	26026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SOLH2_HUMAN	SOHLH2	HGNC	.	.	UPI00017A803A	SNV	SOHLH2,synonymous_variant,p.%3D,ENST00000379881,;CCDC169-SOHLH2,synonymous_variant,p.%3D,ENST00000511166,;SOHLH2,synonymous_variant,p.%3D,ENST00000554962,;	1493	47	35	SUCCESS
NDRG2	57447	.	GRCh37	14	21486186	21486186	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	12	25	0	ENST00000298687.5:c.909G>A	p.Leu303=	p.L303=	ENST00000298687	NM_201535.1	303	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9565.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTCAGCTT	NONE	.	.	hmmpanther:PTHR11034:SF17,hmmpanther:PTHR11034,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474	.	.	ENSP00000451712	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000556147	Transcript	.	.	ENSG00000165795	14460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDRG2_HUMAN	NDRG2	HGNC	G3V5S0_HUMAN,G3V5P9_HUMAN,G3V5L7_HUMAN,G3V5B5_HUMAN,G3V578_HUMAN,G3V552_HUMAN,G3V4T9_HUMAN,G3V3P1_HUMAN,G3V3D5_HUMAN,G3V383_HUMAN,G3V358_HUMAN,G3V2T2_HUMAN,G3V2S0_HUMAN,G3V2I9_HUMAN	.	UPI000012FEDE	SNV	NDRG2,synonymous_variant,p.%3D,ENST00000350792,;NDRG2,synonymous_variant,p.%3D,ENST00000555158,;NDRG2,synonymous_variant,p.%3D,ENST00000556008,;NDRG2,synonymous_variant,p.%3D,ENST00000556366,;NDRG2,synonymous_variant,p.%3D,ENST00000554143,;NDRG2,synonymous_variant,p.%3D,ENST00000397856,;NDRG2,synonymous_variant,p.%3D,ENST00000397855,;NDRG2,synonymous_variant,p.%3D,ENST00000298684,;NDRG2,synonymous_variant,p.%3D,ENST00000556147,;NDRG2,synonymous_variant,p.%3D,ENST00000298687,;NDRG2,synonymous_variant,p.%3D,ENST00000397858,;NDRG2,synonymous_variant,p.%3D,ENST00000397847,;NDRG2,synonymous_variant,p.%3D,ENST00000397851,;NDRG2,synonymous_variant,p.%3D,ENST00000553593,;NDRG2,synonymous_variant,p.%3D,ENST00000403829,;NDRG2,synonymous_variant,p.%3D,ENST00000553503,;NDRG2,synonymous_variant,p.%3D,ENST00000397853,;NDRG2,synonymous_variant,p.%3D,ENST00000397844,;NDRG2,synonymous_variant,p.%3D,ENST00000554104,;NDRG2,synonymous_variant,p.%3D,ENST00000360463,;NDRG2,intron_variant,,ENST00000557633,;NDRG2,downstream_gene_variant,,ENST00000554489,;NDRG2,downstream_gene_variant,,ENST00000554561,;NDRG2,downstream_gene_variant,,ENST00000556329,;NDRG2,downstream_gene_variant,,ENST00000554483,;NDRG2,downstream_gene_variant,,ENST00000557274,;NDRG2,downstream_gene_variant,,ENST00000555733,;NDRG2,downstream_gene_variant,,ENST00000554472,;NDRG2,downstream_gene_variant,,ENST00000554415,;NDRG2,downstream_gene_variant,,ENST00000556561,;NDRG2,downstream_gene_variant,,ENST00000556688,;NDRG2,downstream_gene_variant,,ENST00000557182,;NDRG2,downstream_gene_variant,,ENST00000555142,;NDRG2,downstream_gene_variant,,ENST00000557264,;NDRG2,downstream_gene_variant,,ENST00000449431,;NDRG2,downstream_gene_variant,,ENST00000555869,;NDRG2,downstream_gene_variant,,ENST00000555384,;NDRG2,downstream_gene_variant,,ENST00000556457,;NDRG2,downstream_gene_variant,,ENST00000553442,;NDRG2,downstream_gene_variant,,ENST00000554833,;NDRG2,downstream_gene_variant,,ENST00000553867,;NDRG2,downstream_gene_variant,,ENST00000556924,;NDRG2,downstream_gene_variant,,ENST00000554398,;NDRG2,downstream_gene_variant,,ENST00000553563,;NDRG2,downstream_gene_variant,,ENST00000557149,;NDRG2,downstream_gene_variant,,ENST00000556420,;NDRG2,downstream_gene_variant,,ENST00000555657,;NDRG2,downstream_gene_variant,,ENST00000557169,;NDRG2,downstream_gene_variant,,ENST00000554893,;NDRG2,downstream_gene_variant,,ENST00000557676,;NDRG2,downstream_gene_variant,,ENST00000555026,;NDRG2,downstream_gene_variant,,ENST00000553784,;NDRG2,downstream_gene_variant,,ENST00000554531,;NDRG2,downstream_gene_variant,,ENST00000554419,;NDRG2,downstream_gene_variant,,ENST00000556974,;NDRG2,downstream_gene_variant,,ENST00000554094,;NDRG2,downstream_gene_variant,,ENST00000554277,;NDRG2,3_prime_UTR_variant,,ENST00000557353,;NDRG2,non_coding_transcript_exon_variant,,ENST00000555650,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553793,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557416,;NDRG2,non_coding_transcript_exon_variant,,ENST00000556716,;NDRG2,downstream_gene_variant,,ENST00000557167,;NDRG2,downstream_gene_variant,,ENST00000557616,;NDRG2,downstream_gene_variant,,ENST00000554379,;NDRG2,downstream_gene_variant,,ENST00000557669,;NDRG2,downstream_gene_variant,,ENST00000366204,;NDRG2,downstream_gene_variant,,ENST00000555695,;NDRG2,downstream_gene_variant,,ENST00000557113,;NDRG2,downstream_gene_variant,,ENST00000557198,;NDRG2,downstream_gene_variant,,ENST00000557728,;NDRG2,downstream_gene_variant,,ENST00000555767,;NDRG2,downstream_gene_variant,,ENST00000553567,;NDRG2,downstream_gene_variant,,ENST00000553741,;NDRG2,downstream_gene_variant,,ENST00000553862,;NDRG2,downstream_gene_variant,,ENST00000553900,;NDRG2,downstream_gene_variant,,ENST00000557318,;NDRG2,downstream_gene_variant,,ENST00000557305,;	1850	25	22	SUCCESS
DLST	1743	.	GRCh37	14	75360077	75360077	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	81	2	ENST00000334220.4:c.622C>A	p.Pro208Thr	p.P208T	ENST00000334220	NM_001933.4	208	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS9833.1	622	SOMATICSNIPER|VARSCANS	.	TTGCCCCACCA	NONE	.	.	TIGRFAM_domain:TIGR01347,hmmpanther:PTHR23151:SF8,hmmpanther:PTHR23151	.	.	ENSP00000335304	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000334220	Transcript	.	.	ENSG00000119689	2911	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.05)	.	ODO2_HUMAN	DLST	HGNC	.	.	UPI00000000C0	SNV	DLST,missense_variant,p.Pro208Thr,ENST00000334220,;DLST,missense_variant,p.Pro122Thr,ENST00000334212,;DLST,missense_variant,p.Pro191Thr,ENST00000554806,;DLST,non_coding_transcript_exon_variant,,ENST00000555190,;DLST,3_prime_UTR_variant,,ENST00000554612,;DLST,3_prime_UTR_variant,,ENST00000238671,;DLST,3_prime_UTR_variant,,ENST00000555089,;DLST,3_prime_UTR_variant,,ENST00000555988,;DLST,downstream_gene_variant,,ENST00000555459,;DLST,downstream_gene_variant,,ENST00000550473,;DLST,downstream_gene_variant,,ENST00000556460,;DLST,downstream_gene_variant,,ENST00000557012,;DLST,downstream_gene_variant,,ENST00000555071,;DLST,downstream_gene_variant,,ENST00000556582,;DLST,downstream_gene_variant,,ENST00000555492,;	683	83	65	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40300225	40300225	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	76	1	ENST00000263791.5:c.3408-3C>T		p.X1136_splice	ENST00000263791	NM_001013703.2	1136		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42016.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCAGATA	NONE	.	.	.	.	.	ENSP00000263791	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	LOW	24/38	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,splice_region_variant,,ENST00000560855,;EIF2AK4,splice_region_variant,,ENST00000382727,;EIF2AK4,splice_region_variant,,ENST00000263791,;EIF2AK4,splice_region_variant,,ENST00000559311,;EIF2AK4,splice_region_variant,,ENST00000558557,;EIF2AK4,splice_region_variant,,ENST00000558629,;	.	77	43	SUCCESS
ACAN	176	.	GRCh37	15	89385015	89385015	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768599280	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	39	0	ENST00000439576.2:c.674A>G	p.Asp225Gly	p.D225G	ENST00000439576	NM_013227.3	225	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS53970.1	674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGATGAGT	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000387356	.	5/18	.	.	.	.	.	.	.	.	rs768599280	5/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Asp225Gly,ENST00000559004,;ACAN,missense_variant,p.Asp225Gly,ENST00000439576,;ACAN,missense_variant,p.Asp225Gly,ENST00000558207,;ACAN,missense_variant,p.Asp225Gly,ENST00000561243,;ACAN,missense_variant,p.Asp225Gly,ENST00000352105,;	1048	39	31	SUCCESS
CHD2	1106	.	GRCh37	15	93510735	93510735	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	58	0	ENST00000394196.4:c.2181G>C	p.Gln727His	p.Q727H	ENST00000394196	NM_001271.3	727	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS10374.2	2181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGTATTA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Pfam_domain:PF00176,Superfamily_domains:SSF52540	.	.	ENSP00000377747	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000394196	Transcript	1	.	ENSG00000173575	1917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.64)	.	deleterious(0)	.	CHD2_HUMAN	CHD2	HGNC	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN	.	UPI0000E8A85C	SNV	CHD2,missense_variant,p.Gln727His,ENST00000557381,;CHD2,missense_variant,p.Gln727His,ENST00000394196,;CHD2,upstream_gene_variant,,ENST00000557116,;CHD2,downstream_gene_variant,,ENST00000555582,;CHD2,upstream_gene_variant,,ENST00000557340,;	3249	58	56	SUCCESS
ZG16B	124220	.	GRCh37	16	2880751	2880751	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	51	0	ENST00000382280.3:c.217G>T	p.Glu73Ter	p.E73*	ENST00000382280	NM_145252.2	73	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS10479.2	217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGAAATC	NONE	.	.	Gene3D:2.100.10.30,SMART_domains:SM00915,Superfamily_domains:SSF51101	.	.	ENSP00000371715	.	3/4	.	.	.	.	.	.	.	.	COSM3508415	3/4	PASS	ENST00000382280	Transcript	.	.	ENSG00000162078	30456	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZG16B_HUMAN	ZG16B	HGNC	G8H6I3_HUMAN,C3PTT6_HUMAN	.	UPI000059D2F8	SNV	ZG16B,stop_gained,p.Glu73Ter,ENST00000382280,;ZG16B,stop_gained,p.Glu54Ter,ENST00000571723,;ZG16B,stop_gained,p.Glu72Ter,ENST00000570670,;ZG16B,stop_gained,p.Glu43Ter,ENST00000572863,;PRSS21,downstream_gene_variant,,ENST00000575739,;ZG16B,non_coding_transcript_exon_variant,,ENST00000573019,;ZG16B,non_coding_transcript_exon_variant,,ENST00000576423,;	296	51	33	SUCCESS
CREBBP	1387	.	GRCh37	16	3830772	3830772	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	68	0	ENST00000262367.5:c.1784A>G	p.His595Arg	p.H595R	ENST00000262367	NM_004380.2	595	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS10509.1	1784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATGTTCG	NONE	.	.	PROSITE_profiles:PS50952,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Pfam_domain:PF02172,Gene3D:1sb0A00,Superfamily_domains:0053605	.	.	ENSP00000262367	.	8/31	.	.	.	.	.	.	.	.	.	8/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,missense_variant,p.His595Arg,ENST00000262367,;CREBBP,missense_variant,p.His557Arg,ENST00000382070,;CREBBP,missense_variant,p.His33Arg,ENST00000572134,;CREBBP,upstream_gene_variant,,ENST00000571826,;	2594	68	39	SUCCESS
N4BP1	9683	.	GRCh37	16	48595832	48595832	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374516858	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	117	0	ENST00000262384.3:c.722G>T	p.Gly241Val	p.G241V	ENST00000262384	NM_153029.3	241	gGg/gTg	0	G:0.0003	.	.	.	.	A	G/V	protein_coding	YES	CCDS45479.1	722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCCCAGCT	NONE	byCluster	.	hmmpanther:PTHR12876:SF26,hmmpanther:PTHR12876	.	G:0	ENSP00000262384	.	2/7	.	.	.	.	.	.	.	.	rs374516858,COSM1478898,COSM1478897	2/7	PASS	ENST00000262384	Transcript	.	.	ENSG00000102921	29850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.883)	.	deleterious(0.01)	0,1,1	N4BP1_HUMAN	N4BP1	HGNC	I3L3R7_HUMAN	.	UPI000013D2A2	SNV	N4BP1,missense_variant,p.Gly241Val,ENST00000262384,;N4BP1,downstream_gene_variant,,ENST00000564710,;RP11-44I10.3,intron_variant,,ENST00000563994,;N4BP1,non_coding_transcript_exon_variant,,ENST00000564124,;	959	117	75	SUCCESS
NR1D1	9572	.	GRCh37	17	38252734	38252734	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1481980636	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	54	1	ENST00000246672.3:c.566G>A	p.Arg189His	p.R189H	ENST00000246672	NM_021724.4	189	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11361.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCGACAT	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF113,Gene3D:1.10.565.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000246672	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000246672	Transcript	.	.	ENSG00000126368	7962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NR1D1_HUMAN	NR1D1	HGNC	F1D8S3_HUMAN,B4DTC7_HUMAN	.	UPI00001304C4	SNV	NR1D1,missense_variant,p.Arg189His,ENST00000246672,;THRA,downstream_gene_variant,,ENST00000264637,;THRA,downstream_gene_variant,,ENST00000584985,;THRA,downstream_gene_variant,,ENST00000394121,;THRA,downstream_gene_variant,,ENST00000450525,;	1197	55	42	SUCCESS
KRT14	3861	.	GRCh37	17	39740122	39740122	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	47	0	ENST00000167586.6:c.817G>A	p.Asp273Asn	p.D273N	ENST00000167586	NM_000526.4	273	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS11400.1	817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCCATCT	NONE	.	.	Prints_domain:PR01248,Superfamily_domains:SSF46579,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105	.	.	ENSP00000167586	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000167586	Transcript	.	.	ENSG00000186847	6416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.576)	.	tolerated(0.06)	.	K1C14_HUMAN	KRT14	HGNC	K7ENV3_HUMAN	.	UPI00001AE5AA	SNV	KRT14,missense_variant,p.Asp273Asn,ENST00000167586,;KRT14,non_coding_transcript_exon_variant,,ENST00000476662,;KRT14,upstream_gene_variant,,ENST00000441550,;	904	48	39	SUCCESS
RNF43	54894	.	GRCh37	17	56437569	56437569	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	27	0	ENST00000407977.2:c.893G>A	p.Cys298Tyr	p.C298Y	ENST00000407977		298	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS11607.1	893	RADIA|MUTECT|MUSE|VARSCANS	.	CCACACAGTTA	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Pfam_domain:PF13639,Gene3D:3.30.40.10,hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2,PROSITE_profiles:PS50089	.	.	ENSP00000463069	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000584437	Transcript	.	.	ENSG00000108375	18505	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RNF43_HUMAN	RNF43	HGNC	.	.	UPI000022A469	SNV	RNF43,missense_variant,p.Cys298Tyr,ENST00000407977,;RNF43,missense_variant,p.Cys257Tyr,ENST00000583753,;RNF43,missense_variant,p.Cys298Tyr,ENST00000584437,;RNF43,missense_variant,p.Cys257Tyr,ENST00000500597,;RNF43,missense_variant,p.Cys298Tyr,ENST00000577716,;RNF43,missense_variant,p.Cys171Tyr,ENST00000577625,;RNF43,missense_variant,p.Cys171Tyr,ENST00000581868,;BZRAP1-AS1,intron_variant,,ENST00000583841,;RNF43,downstream_gene_variant,,ENST00000582293,;	2849	27	18	SUCCESS
SEPT4	0	.	GRCh37	17	56599039	56599039	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	82	1	ENST00000457347.2:c.961-32C>T		p.*321*	ENST00000457347	NM_001256782.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58582.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTCTGGGGACC	NONE	.	.	.	.	.	ENSP00000402000	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000457347	Transcript	.	.	ENSG00000108387	9165	.	.	MODIFIER	8/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEPT4_HUMAN	SEPT4	HGNC	.	.	UPI00017A809C	SNV	SEPT4,3_prime_UTR_variant,,ENST00000580809,;SEPT4,intron_variant,,ENST00000579371,;SEPT4,intron_variant,,ENST00000426861,;SEPT4,intron_variant,,ENST00000580844,;SEPT4,intron_variant,,ENST00000457347,;SEPT4,intron_variant,,ENST00000583114,;SEPT4,intron_variant,,ENST00000317256,;SEPT4,intron_variant,,ENST00000412945,;SEPT4,intron_variant,,ENST00000393086,;SEPT4,intron_variant,,ENST00000317268,;SEPT4,downstream_gene_variant,,ENST00000583291,;MTMR4,upstream_gene_variant,,ENST00000579921,;MTMR4,upstream_gene_variant,,ENST00000323456,;MTMR4,upstream_gene_variant,,ENST00000579925,;SEPT4,downstream_gene_variant,,ENST00000577729,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,upstream_gene_variant,,ENST00000580769,;RP11-112H10.4,upstream_gene_variant,,ENST00000578022,;SEPT4,downstream_gene_variant,,ENST00000580740,;SEPT4,downstream_gene_variant,,ENST00000580791,;SEPT4,downstream_gene_variant,,ENST00000581921,;SEPT4,downstream_gene_variant,,ENST00000584528,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,intron_variant,,ENST00000580796,;SEPT4,intron_variant,,ENST00000583273,;SEPT4,intron_variant,,ENST00000577440,;SEPT4,intron_variant,,ENST00000584488,;SEPT4,downstream_gene_variant,,ENST00000582248,;SEPT4,downstream_gene_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000585170,;SEPT4,downstream_gene_variant,,ENST00000578131,;SEPT4,downstream_gene_variant,,ENST00000581615,;MTMR4,upstream_gene_variant,,ENST00000582663,;SEPT4,downstream_gene_variant,,ENST00000578747,;	.	83	38	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14808726	14808726	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	83	1	ENST00000358984.4:c.2313+148G>A		p.*771*	ENST00000358984	NM_001145029.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54182.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGAGAAA	NONE	.	.	.	.	.	ENSP00000351875	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODIFIER	25/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,intron_variant,,ENST00000358984,;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000579292,;ANKRD30B,3_prime_UTR_variant,,ENST00000580206,;	.	84	53	SUCCESS
ASNA1	0	.	GRCh37	19	12856230	12856230	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	13	0	ENST00000591090.1:c.349G>T	p.Glu117Ter	p.E117*	ENST00000591090		117	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS32920.1	349	MUTECT|MUSE	.	CTGACGAGTTC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF02374,TIGRFAM_domain:TIGR00345,Gene3D:3.40.50.300,hmmpanther:PTHR10803,hmmpanther:PTHR10803:SF3,HAMAP:MF_03112	.	.	ENSP00000466379	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000591090	Transcript	.	.	ENSG00000198356	752	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASNA_HUMAN	ASNA1	HGNC	K7ERW9_HUMAN	.	UPI0000126095	SNV	ASNA1,stop_gained,p.Glu117Ter,ENST00000591090,;ASNA1,stop_gained,p.Glu117Ter,ENST00000357332,;ASNA1,stop_gained,p.Glu117Ter,ENST00000586561,;ASNA1,non_coding_transcript_exon_variant,,ENST00000590633,;	451	13	12	SUCCESS
ZNF675	171392	.	GRCh37	19	23844915	23844915	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	47	1	ENST00000359788.4:c.226+1G>C		p.X76_splice	ENST00000359788	NM_138330.2	76		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32981.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCTGGG	NONE	.	.	.	.	.	ENSP00000352836	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359788	Transcript	.	.	ENSG00000197372	30768	.	.	HIGH	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,splice_donor_variant,,ENST00000359788,;ZNF675,splice_donor_variant,,ENST00000601935,;ZNF675,splice_donor_variant,,ENST00000596211,;ZNF675,splice_donor_variant,,ENST00000601010,;ZNF675,splice_donor_variant,,ENST00000600313,;ZNF675,splice_donor_variant,,ENST00000599535,;ZNF675,missense_variant,p.Gly76Ala,ENST00000599168,;ZNF675,splice_donor_variant,,ENST00000597074,;ZNF675,upstream_gene_variant,,ENST00000600299,;	.	48	53	SUCCESS
FLT3LG	2323	.	GRCh37	19	49979435	49979435	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367551792	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	48	0	ENST00000594009.1:c.178G>A	p.Val60Met	p.V60M	ENST00000594009	NM_001204503.1	60	Gtg/Atg	0	A:0	A:0.0008	.	A:0	.	A	V/M	protein_coding	YES	CCDS12767.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGTGGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11032,hmmpanther:PTHR11032:SF1,Pfam_domain:PF02947,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	A:0	A:0.0001	ENSP00000469613	A:0	3/8	.	.	.	.	.	.	.	.	rs367551792,COSM3835381	3/8	PASS	ENST00000594009	Transcript	.	A:0.0002	ENSG00000090554	3766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.883)	A:0	tolerated(0.11)	0,1	FLT3L_HUMAN	FLT3LG	HGNC	Q05C96_HUMAN	.	UPI0000037544	SNV	FLT3LG,missense_variant,p.Val60Met,ENST00000600429,;FLT3LG,missense_variant,p.Val60Met,ENST00000597551,;FLT3LG,missense_variant,p.Val60Met,ENST00000344019,;FLT3LG,missense_variant,p.Val20Met,ENST00000598555,;FLT3LG,missense_variant,p.Val60Met,ENST00000596435,;FLT3LG,missense_variant,p.Val60Met,ENST00000594009,;FLT3LG,5_prime_UTR_variant,,ENST00000595510,;FLT3LG,5_prime_UTR_variant,,ENST00000204637,;FLT3LG,upstream_gene_variant,,ENST00000597914,;CTD-3148I10.15,non_coding_transcript_exon_variant,,ENST00000595815,;FLT3LG,3_prime_UTR_variant,,ENST00000600084,;FLT3LG,3_prime_UTR_variant,,ENST00000601800,;FLT3LG,non_coding_transcript_exon_variant,,ENST00000593422,;FLT3LG,non_coding_transcript_exon_variant,,ENST00000598472,;CTD-3148I10.9,intron_variant,,ENST00000599536,;	257	48	27	SUCCESS
ZNF616	90317	.	GRCh37	19	52618825	52618825	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	57	0	ENST00000600228.1:c.1592G>T	p.Ser531Ile	p.S531I	ENST00000600228	NM_178523.3	531	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS33090.1	1592	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACTGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF275,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000600228	Transcript	.	.	ENSG00000204611	28062	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.855)	.	tolerated(0.11)	.	ZN616_HUMAN	ZNF616	HGNC	M0QXF0_HUMAN	.	UPI0000140D49	SNV	ZNF616,missense_variant,p.Ser531Ile,ENST00000600228,;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;CTC-471J1.10,upstream_gene_variant,,ENST00000603942,;	1854	57	55	SUCCESS
OSCAR	126014	.	GRCh37	19	54600300	54600300	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	34	0	ENST00000359649.4:c.234C>A	p.Leu78=	p.L78=	ENST00000359649	NM_206818.1	78	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12876.1	234	RADIA|VARSCANS	.	CGGAAGAGAAG	NONE	.	.	hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352671	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,synonymous_variant,p.%3D,ENST00000284648,;OSCAR,synonymous_variant,p.%3D,ENST00000351806,;OSCAR,synonymous_variant,p.%3D,ENST00000356532,;OSCAR,synonymous_variant,p.%3D,ENST00000359649,;OSCAR,synonymous_variant,p.%3D,ENST00000391761,;OSCAR,synonymous_variant,p.%3D,ENST00000358375,;OSCAR,intron_variant,,ENST00000391760,;	257	34	26	SUCCESS
MAD2L2	10459	.	GRCh37	1	11736162	11736162	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	19	0	ENST00000235310.3:c.368T>A	p.Leu123His	p.L123H	ENST00000235310		123	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS134.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCCGGAGCAGC	NONE	.	.	PROSITE_profiles:PS50815,hmmpanther:PTHR11842:SF10,hmmpanther:PTHR11842,Pfam_domain:PF02301,Gene3D:1go4B00,Superfamily_domains:0040144	.	.	ENSP00000235310	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000235310	Transcript	.	.	ENSG00000116670	6764	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MD2L2_HUMAN	MAD2L2	HGNC	B1AK45_HUMAN	.	UPI0000000DF1	SNV	MAD2L2,missense_variant,p.Leu136His,ENST00000376669,;MAD2L2,missense_variant,p.Leu123His,ENST00000376692,;MAD2L2,missense_variant,p.Leu123His,ENST00000235310,;MAD2L2,missense_variant,p.Leu123His,ENST00000456915,;MAD2L2,missense_variant,p.Leu136His,ENST00000376672,;MAD2L2,missense_variant,p.Leu153His,ENST00000445656,;MAD2L2,missense_variant,p.Leu123His,ENST00000376667,;FBXO6,downstream_gene_variant,,ENST00000449067,;FBXO6,downstream_gene_variant,,ENST00000376753,;MAD2L2,non_coding_transcript_exon_variant,,ENST00000376664,;MAD2L2,downstream_gene_variant,,ENST00000376655,;FBXO6,downstream_gene_variant,,ENST00000474239,;	1297	19	14	SUCCESS
HIST2H2BA	0	.	GRCh37	1	120906208	120906208	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	55	0	ENST00000430394.1:n.181T>A		p.*61*	ENST00000430394				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCTCGTCC	NONE	.	1049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427872	Transcript	.	.	ENSG00000227193	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-439A17.4	Clone_based_vega_gene	.	.	.	SNV	RP11-439A17.4,upstream_gene_variant,,ENST00000427872,;RP11-439A17.10,upstream_gene_variant,,ENST00000426275,;HIST2H2BA,non_coding_transcript_exon_variant,,ENST00000430394,;HIST2H2BA,non_coding_transcript_exon_variant,,ENST00000412169,;HIST2H3DP1,downstream_gene_variant,,ENST00000401004,;	.	55	43	SUCCESS
PRDM2	7799	.	GRCh37	1	14105806	14105806	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	73	0	ENST00000235372.7:c.1516C>T	p.His506Tyr	p.H506Y	ENST00000235372	NM_012231.4	506	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS150.1	1516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTCACGAA	NONE	.	.	SMART_domains:SM00355,PIRSF_domain:PIRSF002395,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,PROSITE_profiles:PS50157	.	.	ENSP00000235372	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,missense_variant,p.His305Tyr,ENST00000343137,;PRDM2,missense_variant,p.His305Tyr,ENST00000413440,;PRDM2,missense_variant,p.His506Tyr,ENST00000311066,;PRDM2,missense_variant,p.His506Tyr,ENST00000235372,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000376048,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,intron_variant,,ENST00000491134,;	2372	73	37	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144882490	144882490	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	76	0	ENST00000369354.3:c.3529C>T	p.Gln1177Ter	p.Q1177*	ENST00000369354		1177	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS55627.1	3529	MUTECT|MUSE	.	GCTCTGGGGTC	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	24/44	.	.	.	.	.	.	.	.	.	24/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,stop_gained,p.Gln1177Ter,ENST00000369354,;PDE4DIP,stop_gained,p.Gln1314Ter,ENST00000369359,;PDE4DIP,stop_gained,p.Gln1314Ter,ENST00000530740,;PDE4DIP,stop_gained,p.Gln72Ter,ENST00000530592,;PDE4DIP,stop_gained,p.Gln1177Ter,ENST00000369356,;PDE4DIP,intron_variant,,ENST00000313382,;RP4-791M13.5,downstream_gene_variant,,ENST00000531288,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	3820	76	61	SUCCESS
FLG	2312	.	GRCh37	1	152286392	152286392	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	120	1	ENST00000368799.1:c.970T>C	p.Ser324Pro	p.S324P	ENST00000368799	NM_002016.1	324	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS30860.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGATCCAT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ser324Pro,ENST00000368799,;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	1006	121	85	SUCCESS
PGBD2	267002	.	GRCh37	1	249211312	249211312	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	45	0	ENST00000329291.5:c.529C>T	p.Gln177Ter	p.Q177*	ENST00000329291	NM_170725.2	177	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS31128.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTCAGGAA	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000331643	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329291	Transcript	.	.	ENSG00000185220	19399	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBD2_HUMAN	PGBD2	HGNC	.	.	UPI000016196D	SNV	PGBD2,stop_gained,p.Gln174Ter,ENST00000539153,;PGBD2,stop_gained,p.Gln177Ter,ENST00000329291,;PGBD2,intron_variant,,ENST00000355360,;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,intron_variant,,ENST00000462488,;	676	45	43	SUCCESS
COL24A1	255631	.	GRCh37	1	86554879	86554879	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	34	171	0	ENST00000370571.2:c.1685C>T	p.Pro562Leu	p.P562L	ENST00000370571	NM_152890.5	562	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41353.1	1685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGGGCCC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,Pfam_domain:PF01391	.	.	ENSP00000359603	.	7/60	.	.	.	.	.	.	.	.	.	7/60	PASS	ENST00000370571	Transcript	.	.	ENSG00000171502	20821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	tolerated(0.92)	.	COOA1_HUMAN	COL24A1	HGNC	E9PNK8_HUMAN	.	UPI000013E81F	SNV	COL24A1,missense_variant,p.Pro562Leu,ENST00000436319,;COL24A1,missense_variant,p.Pro562Leu,ENST00000370571,;COL24A1,missense_variant,p.Pro562Leu,ENST00000426639,;	2052	171	145	SUCCESS
BFSP1	631	.	GRCh37	20	17505501	17505501	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	79	0	ENST00000377873.3:c.430C>A	p.Leu144Ile	p.L144I	ENST00000377873	NM_001195.3	144	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS13126.1	430	MUTECT|MUSE	.	GTTAAGCCGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0,Pfam_domain:PF00038	.	.	ENSP00000367104	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000377873	Transcript	1	.	ENSG00000125864	1040	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	BFSP1_HUMAN	BFSP1	HGNC	F5H0G1_HUMAN	.	UPI00001268C7	SNV	BFSP1,missense_variant,p.Leu144Ile,ENST00000377873,;BFSP1,missense_variant,p.Leu5Ile,ENST00000544874,;BFSP1,missense_variant,p.Leu5Ile,ENST00000536626,;BFSP1,missense_variant,p.Leu19Ile,ENST00000377868,;BFSP1,non_coding_transcript_exon_variant,,ENST00000473415,;	470	79	56	SUCCESS
RALGAPA2	57186	.	GRCh37	20	20392779	20392779	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774718899	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	54	0	ENST00000202677.7:c.5509G>T	p.Ala1837Ser	p.A1837S	ENST00000202677	NM_020343.3	1837	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS46584.1	5509	RADIA|VARSCANS	.	CAGAGCTCGCT	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000202677	.	38/40	.	.	.	.	.	.	.	.	rs774718899	38/40	PASS	ENST00000202677	Transcript	.	.	ENSG00000188559	16207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.37)	.	deleterious(0.01)	.	RGPA2_HUMAN	RALGAPA2	HGNC	.	.	UPI000040F987	SNV	RALGAPA2,missense_variant,p.Ala1837Ser,ENST00000202677,;RALGAPA2,missense_variant,p.Ala1654Ser,ENST00000430436,;	5517	54	36	SUCCESS
GNAS	2778	.	GRCh37	20	57484420	57484420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11554273	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	69	0	ENST00000371085.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000371085	NM_000516.4	201	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS46622.1	2530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGTGTC	SITE|p.R844C|c.2530C>T|31,SITE|p.R201C|c.601C>T|420,BUFFER|p.R201S|c.601C>A|15,BUFFER|p.R844H|c.2531G>A|25,BUFFER|p.R201L|c.602G>T|3,BUFFER|p.R201H|c.602G>A|306	.	.	hmmpanther:PTHR10218:SF36,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540,Superfamily_domains:SSF47895,Prints_domain:PR00318	.	.	ENSP00000360141	.	8/13	.	.	.	.	.	.	.	.	COSM27899,COSM1757313,COSM27887,COSM1566192,COSM123397	8/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1,1,1,1	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Arg201Cys,ENST00000371085,;GNAS,missense_variant,p.Arg187Cys,ENST00000306090,;GNAS,missense_variant,p.Arg142Cys,ENST00000604005,;GNAS,missense_variant,p.Arg202Cys,ENST00000354359,;GNAS,missense_variant,p.Arg187Cys,ENST00000371095,;GNAS,missense_variant,p.Arg830Cys,ENST00000371102,;GNAS,missense_variant,p.Arg186Cys,ENST00000265620,;GNAS,missense_variant,p.Arg844Cys,ENST00000371100,;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000482112,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000472183,;GNAS,non_coding_transcript_exon_variant,,ENST00000464788,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000467227,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,upstream_gene_variant,,ENST00000475610,;	3082	69	41	SUCCESS
HELZ2	85441	.	GRCh37	20	62196722	62196722	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	18	0	ENST00000467148.1:c.3453C>A	p.Ser1151=	p.S1151=	ENST00000467148	NM_001037335.2	1151	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33508.1	3453	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCGAGGAGGC	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Superfamily_domains:SSF50249	.	.	ENSP00000417401	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,synonymous_variant,p.%3D,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,upstream_gene_variant,,ENST00000478861,;HELZ2,downstream_gene_variant,,ENST00000370082,;	3523	18	14	SUCCESS
UMODL1	89766	.	GRCh37	21	43547837	43547837	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	50	0	ENST00000408910.2:c.3586G>T	p.Ala1196Ser	p.A1196S	ENST00000408910	NM_001004416.2	1196	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42935.1	3970	RADIA|VARSCANS	.	ATAAGGCCCAG	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,PROSITE_profiles:PS51034	.	.	ENSP00000386126	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Ala1196Ser,ENST00000408910,;UMODL1,missense_variant,p.Ala1324Ser,ENST00000408989,;UMODL1,missense_variant,p.Ala1124Ser,ENST00000400424,;UMODL1,missense_variant,p.Ala1252Ser,ENST00000400427,;UMODL1,non_coding_transcript_exon_variant,,ENST00000400423,;UMODL1,non_coding_transcript_exon_variant,,ENST00000484712,;UMODL1,downstream_gene_variant,,ENST00000484174,;	3970	50	35	SUCCESS
DGCR6L	85359	.	GRCh37	22	20307214	20307214	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	65	0	ENST00000248879.3:c.219C>T	p.Leu73=	p.L73=	ENST00000248879	NM_033257.3	73	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13778.1	219	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGTGAGGTG	NONE	.	.	Pfam_domain:PF07324,hmmpanther:PTHR13054:SF4,hmmpanther:PTHR13054	.	.	ENSP00000248879	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000248879	Transcript	.	.	ENSG00000128185	18551	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DGC6L_HUMAN	DGCR6L	HGNC	.	.	UPI0000129216	SNV	DGCR6L,missense_variant,p.Ser69Leu,ENST00000405465,;DGCR6L,synonymous_variant,p.%3D,ENST00000248879,;XXbac-B444P24.14,upstream_gene_variant,,ENST00000609632,;XXbac-B444P24.13,upstream_gene_variant,,ENST00000608275,;DGCR6L,synonymous_variant,p.%3D,ENST00000443409,;	311	65	48	SUCCESS
PPIL2	23759	.	GRCh37	22	22049306	22049306	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	15	0	ENST00000335025.8:c.1413G>A	p.Gln471=	p.Q471=	ENST00000335025		471	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS46670.1	1413	RADIA|MUTECT|MUSE	.	AGCCAGGGCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000390427	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000412327	Transcript	.	.	ENSG00000100023	9261	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPIL2_HUMAN	PPIL2	HGNC	.	.	UPI000002A7A2	SNV	PPIL2,synonymous_variant,p.%3D,ENST00000398831,;PPIL2,synonymous_variant,p.%3D,ENST00000412327,;PPIL2,synonymous_variant,p.%3D,ENST00000406385,;PPIL2,synonymous_variant,p.%3D,ENST00000492445,;PPIL2,synonymous_variant,p.%3D,ENST00000335025,;PPIL2,intron_variant,,ENST00000456792,;YPEL1,downstream_gene_variant,,ENST00000339468,;PPIL2,non_coding_transcript_exon_variant,,ENST00000446951,;PPIL2,3_prime_UTR_variant,,ENST00000417788,;PPIL2,non_coding_transcript_exon_variant,,ENST00000462188,;	1529	15	9	SUCCESS
SEZ6L	23544	.	GRCh37	22	26747127	26747127	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	47	0	ENST00000248933.6:c.2517G>T	p.Val839=	p.V839=	ENST00000248933		839	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS13833.1	2517	RADIA|MUSE|VARSCANS	.	TTTGTGCTTGA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,PROSITE_profiles:PS50923	.	.	ENSP00000248933	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,synonymous_variant,p.%3D,ENST00000529632,;SEZ6L,synonymous_variant,p.%3D,ENST00000248933,;SEZ6L,synonymous_variant,p.%3D,ENST00000411842,;SEZ6L,synonymous_variant,p.%3D,ENST00000403121,;SEZ6L,synonymous_variant,p.%3D,ENST00000404234,;SEZ6L,synonymous_variant,p.%3D,ENST00000343706,;SEZ6L,synonymous_variant,p.%3D,ENST00000402979,;SEZ6L,intron_variant,,ENST00000360929,;SEZ6L,non_coding_transcript_exon_variant,,ENST00000483291,;	2612	47	26	SUCCESS
FLJ27365	0	.	GRCh37	22	46501301	46501301	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	111	1	ENST00000360737.3:c.150-3846G>A		p.*50*	ENST00000360737				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGTCCTC	NONE	.	.	.	.	.	ENSP00000353966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360737	Transcript	.	.	ENSG00000197182	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FLJ27365	Uniprot_gn	Q6ZNQ0_HUMAN,B1AKH8_HUMAN	.	UPI00001C11DA	SNV	FLJ27365,missense_variant,p.Val74Ile,ENST00000381051,;FLJ27365,intron_variant,,ENST00000360737,;FLJ27365,intron_variant,,ENST00000435439,;	.	112	51	SUCCESS
PSD4	23550	.	GRCh37	2	113955466	113955466	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	32	0	ENST00000245796.6:c.2600G>T	p.Trp867Leu	p.W867L	ENST00000245796	NM_012455.2	867	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS33276.1	2600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTGGCGCC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65,Gene3D:2.30.29.30,Pfam_domain:PF15410,SMART_domains:SM00233,Superfamily_domains:SSF50729,Prints_domain:PR00683	.	.	ENSP00000245796	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000245796	Transcript	.	.	ENSG00000125637	19096	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	PSD4_HUMAN	PSD4	HGNC	B3KN27_HUMAN	.	UPI00004A0748	SNV	PSD4,missense_variant,p.Trp838Leu,ENST00000441564,;PSD4,missense_variant,p.Trp867Leu,ENST00000245796,;PSD4,missense_variant,p.Trp80Leu,ENST00000409378,;PSD4,3_prime_UTR_variant,,ENST00000409656,;PSD4,non_coding_transcript_exon_variant,,ENST00000487574,;PSD4,non_coding_transcript_exon_variant,,ENST00000465592,;PSD4,non_coding_transcript_exon_variant,,ENST00000460725,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000464559,;PSD4,downstream_gene_variant,,ENST00000493329,;	2795	32	24	SUCCESS
TPO	7173	.	GRCh37	2	1481014	1481014	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371367459	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	55	0	ENST00000329066.4:c.976G>T	p.Ala326Ser	p.A326S	ENST00000329066	NM_001206744.1	326	Gcg/Tcg	0	A:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS1643.1	976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGCGTCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	A:0.0002	ENSP00000318820	.	8/17	.	.	.	.	.	.	.	.	rs371367459,CM002642	8/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Ala326Ser,ENST00000329066,;TPO,missense_variant,p.Ala326Ser,ENST00000337415,;TPO,missense_variant,p.Ala326Ser,ENST00000382201,;TPO,missense_variant,p.Ala326Ser,ENST00000346956,;TPO,missense_variant,p.Ala255Ser,ENST00000422464,;TPO,missense_variant,p.Ala326Ser,ENST00000345913,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000497517,;	1067	55	33	SUCCESS
PXDN	7837	.	GRCh37	2	1638057	1638057	+	synonymous_variant	Silent	SNP	A	A	G	rs747662094	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	36	0	ENST00000252804.4:c.4359T>C	p.Pro1453=	p.P1453=	ENST00000252804	NM_012293.1	1453	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS46221.1	4359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGGGGG	NONE	.	.	PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000252804	.	23/23	.	.	.	.	.	.	.	.	rs747662094	23/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,synonymous_variant,p.%3D,ENST00000252804,;PXDN,3_prime_UTR_variant,,ENST00000453308,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,non_coding_transcript_exon_variant,,ENST00000493654,;	4410	36	24	SUCCESS
ZSWIM2	151112	.	GRCh37	2	187713759	187713759	+	synonymous_variant	Silent	SNP	G	G	C	rs771887155	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	88	1	ENST00000295131.2:c.99C>G	p.Leu33=	p.L33=	ENST00000295131	NM_182521.2	33	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33348.1	99	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGTAGGAGGTA	NONE	.	.	hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0	.	.	ENSP00000295131	.	1/9	.	.	.	.	.	.	.	.	rs771887155	1/9	PASS	ENST00000295131	Transcript	.	.	ENSG00000163012	30990	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZSWM2_HUMAN	ZSWIM2	HGNC	.	.	UPI000013E20D	SNV	ZSWIM2,synonymous_variant,p.%3D,ENST00000295131,;ZSWIM2,synonymous_variant,p.%3D,ENST00000419862,;	139	90	51	SUCCESS
HECW2	57520	.	GRCh37	2	197183957	197183957	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371715457	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	42	0	ENST00000260983.3:c.1657G>A	p.Gly553Ser	p.G553S	ENST00000260983	NM_020760.1	553	Ggc/Agc	0	T:0.0002	T:0	.	T:0	.	T	G/S	protein_coding	YES	CCDS33354.1	1657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCGCCTT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254	T:0.001	T:0	ENSP00000260983	T:0	9/29	.	.	.	.	.	.	.	.	rs371715457	9/29	PASS	ENST00000260983	Transcript	.	T:0.0002	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0	tolerated_low_confidence(0.39)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Gly553Ser,ENST00000260983,;HECW2,missense_variant,p.Gly197Ser,ENST00000409111,;	1840	42	31	SUCCESS
CCDC150	284992	.	GRCh37	2	197595663	197595663	+	synonymous_variant	Silent	SNP	A	A	C	rs376832395	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	74	1	ENST00000389175.4:c.3063A>C	p.Ser1021=	p.S1021=	ENST00000389175	NM_001080539.1	1021	tcA/tcC	0	C:0	.	.	.	.	C	S	protein_coding	YES	CCDS46478.1	3063	RADIA|MUSE|VARSCANS	.	GAATCAGAACA	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil	.	C:0.0001	ENSP00000373827	.	26/28	.	.	.	.	.	.	.	.	rs376832395	26/28	PASS	ENST00000389175	Transcript	.	.	ENSG00000144395	26834	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC150_HUMAN	CCDC150	HGNC	.	.	UPI0000DD7A7C	SNV	CCDC150,synonymous_variant,p.%3D,ENST00000389175,;CCDC150,synonymous_variant,p.%3D,ENST00000409270,;CCDC150,synonymous_variant,p.%3D,ENST00000272831,;CCDC150,non_coding_transcript_exon_variant,,ENST00000461243,;CCDC150,downstream_gene_variant,,ENST00000487663,;CCDC150,downstream_gene_variant,,ENST00000494389,;CCDC150,upstream_gene_variant,,ENST00000483877,;CCDC150,3_prime_UTR_variant,,ENST00000424427,;CCDC150,3_prime_UTR_variant,,ENST00000448409,;CCDC150,3_prime_UTR_variant,,ENST00000431807,;CCDC150,downstream_gene_variant,,ENST00000463826,;	3198	75	42	SUCCESS
ABCA12	26154	.	GRCh37	2	215835096	215835096	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs191670598	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	8	233	1	ENST00000272895.7:c.5591C>T	p.Pro1864Leu	p.P1864L	ENST00000272895	NM_173076.2	1864	cCg/cTg	0	A:0.0002	A:0	.	A:0.0014	.	A	P/L	protein_coding	YES	CCDS33372.1	5591	MUTECT|MUSE	.	TGTGCGGTGGG	NONE	byCluster|by1000G	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	A:0	A:0	ENSP00000272895	A:0	37/53	.	.	.	.	.	.	.	.	rs191670598,COSM1631819	37/53	PASS	ENST00000272895	Transcript	.	A:0.0002	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.996)	A:0	deleterious(0)	0,1	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Pro1546Leu,ENST00000389661,;ABCA12,missense_variant,p.Pro1864Leu,ENST00000272895,;	5811	235	169	SUCCESS
FARSB	10056	.	GRCh37	2	223494886	223494886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	134	0	ENST00000281828.6:c.794T>C	p.Ile265Thr	p.I265T	ENST00000281828	NM_005687.3	265	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2454.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTATTTTT	NONE	.	.	Superfamily_domains:SSF56037,SMART_domains:SM00873,TIGRFAM_domain:TIGR00471,Pfam_domain:PF03483,hmmpanther:PTHR10947	.	.	ENSP00000281828	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000281828	Transcript	.	.	ENSG00000116120	17800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	deleterious(0.04)	.	SYFB_HUMAN	FARSB	HGNC	F5H6Y1_HUMAN	.	UPI00002096AC	SNV	FARSB,missense_variant,p.Ile166Thr,ENST00000536361,;FARSB,missense_variant,p.Ile265Thr,ENST00000281828,;	1058	134	102	SUCCESS
TRPM8	79054	.	GRCh37	2	234839334	234839334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	86	0	ENST00000324695.4:c.139G>A	p.Ala47Thr	p.A47T	ENST00000324695	NM_024080.4	47	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33407.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGCAAAT	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	.	.	ENSP00000323926	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.01)	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,missense_variant,p.Ala47Thr,ENST00000324695,;TRPM8,5_prime_UTR_variant,,ENST00000409625,;TRPM8,5_prime_UTR_variant,,ENST00000355722,;TRPM8,5_prime_UTR_variant,,ENST00000433712,;TRPM8,upstream_gene_variant,,ENST00000479332,;TRPM8,missense_variant,p.Ala47Thr,ENST00000444298,;	179	86	53	SUCCESS
GPC1	2817	.	GRCh37	2	241401973	241401973	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766552257	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	19	0	ENST00000264039.2:c.691A>T	p.Ser231Cys	p.S231C	ENST00000264039	NM_002081.2	231	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS2534.1	691	RADIA|SOMATICSNIPER|MUSE	.	TGGCCAGCGAC	NONE	.	.	hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF8,Pfam_domain:PF01153	.	.	ENSP00000264039	.	3/9	.	.	.	.	.	.	.	.	rs766552257	3/9	PASS	ENST00000264039	Transcript	.	.	ENSG00000063660	4449	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.84)	.	deleterious(0.05)	.	GPC1_HUMAN	GPC1	HGNC	.	.	UPI000013D4AA	SNV	GPC1,missense_variant,p.Ser188Cys,ENST00000427506,;GPC1,missense_variant,p.Ser231Cys,ENST00000264039,;GPC1,missense_variant,p.Ser271Cys,ENST00000420138,;GPC1,missense_variant,p.Ser227Cys,ENST00000425056,;GPC1,upstream_gene_variant,,ENST00000455111,;GPC1,downstream_gene_variant,,ENST00000426280,;GPC1,upstream_gene_variant,,ENST00000466624,;GPC1,non_coding_transcript_exon_variant,,ENST00000469694,;GPC1,non_coding_transcript_exon_variant,,ENST00000495100,;	939	19	17	SUCCESS
NCOA1	8648	.	GRCh37	2	24962370	24962370	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	38	1	ENST00000348332.3:c.3271A>C	p.Arg1091=	p.R1091=	ENST00000348332	NM_147233.2	1091	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS1712.1	3271	MUTECT|MUSE|VARSCANS	.	ATATGAGATCA	NONE	.	.	hmmpanther:PTHR10684:SF1,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000385216	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000406961	Transcript	.	.	ENSG00000084676	7668	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCOA1_HUMAN	NCOA1	HGNC	.	.	UPI000006E1F7	SNV	NCOA1,synonymous_variant,p.%3D,ENST00000348332,;NCOA1,synonymous_variant,p.%3D,ENST00000407230,;NCOA1,synonymous_variant,p.%3D,ENST00000288599,;NCOA1,synonymous_variant,p.%3D,ENST00000406961,;NCOA1,synonymous_variant,p.%3D,ENST00000395856,;NCOA1,synonymous_variant,p.%3D,ENST00000538539,;NCOA1,synonymous_variant,p.%3D,ENST00000405141,;	3923	39	44	SUCCESS
LHCGR	3973	.	GRCh37	2	48950602	48950602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	76	0	ENST00000294954.7:c.529G>T	p.Val177Leu	p.V177L	ENST00000294954	NM_000233.3	177	Gta/Tta	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS1842.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTACAGATT	NONE	.	.	hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Gene3D:3.80.10.10,Pfam_domain:PF13306,Superfamily_domains:SSF52058	.	.	ENSP00000294954	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,missense_variant,p.Val177Leu,ENST00000403273,;LHCGR,missense_variant,p.Val177Leu,ENST00000405626,;LHCGR,missense_variant,p.Val143Leu,ENST00000428232,;LHCGR,missense_variant,p.Val177Leu,ENST00000344775,;LHCGR,missense_variant,p.Val177Leu,ENST00000401907,;LHCGR,missense_variant,p.Val177Leu,ENST00000294954,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,non_coding_transcript_exon_variant,,ENST00000477576,;LHCGR,missense_variant,p.Val152Leu,ENST00000602369,;	551	76	52	SUCCESS
TRABD2A	129293	.	GRCh37	2	85097547	85097547	+	synonymous_variant	Silent	SNP	G	G	A	rs552109610	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	28	1	ENST00000409520.2:c.471C>T	p.Ala157=	p.A157=	ENST00000409520	NM_001277053.1	157	gcC/gcT	0	.	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS46349.1	471	SOMATICSNIPER|VARSCANS	.	TTTCCGGCAAT	NONE	by1000G	.	hmmpanther:PTHR31120,hmmpanther:PTHR31120:SF4	A:0	.	ENSP00000335004	A:0	2/6	.	.	.	.	.	.	.	.	rs552109610	2/6	PASS	ENST00000335459	Transcript	.	A:0.0002	ENSG00000186854	27013	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	TIKI1_HUMAN	TRABD2A	HGNC	.	.	UPI000058F1DB	SNV	TRABD2A,synonymous_variant,p.%3D,ENST00000335459,;TRABD2A,synonymous_variant,p.%3D,ENST00000409520,;TRABD2A,synonymous_variant,p.%3D,ENST00000409133,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000436322,;TRABD2A,downstream_gene_variant,,ENST00000474298,;RPL12P18,upstream_gene_variant,,ENST00000437175,;	677	29	28	SUCCESS
BOC	91653	.	GRCh37	3	113005642	113005642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	55	0	ENST00000355385.3:c.3278C>A	p.Pro1093His	p.P1093H	ENST00000355385	NM_033254.2	1093	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS2971.1	3278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTGGAA	NONE	.	.	hmmpanther:PTHR10489:SF11,hmmpanther:PTHR10489	.	.	ENSP00000418663	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000495514	Transcript	.	.	ENSG00000144857	17173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	tolerated_low_confidence(0.13)	.	BOC_HUMAN	BOC	HGNC	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN	.	UPI0000072E0E	SNV	BOC,missense_variant,p.Pro1093His,ENST00000355385,;BOC,missense_variant,p.Pro1093His,ENST00000495514,;BOC,missense_variant,p.Pro1094His,ENST00000273395,;BOC,3_prime_UTR_variant,,ENST00000473008,;WDR52,downstream_gene_variant,,ENST00000393845,;WDR52,downstream_gene_variant,,ENST00000465636,;WDR52,downstream_gene_variant,,ENST00000308346,;BOC,3_prime_UTR_variant,,ENST00000488486,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;WDR52,downstream_gene_variant,,ENST00000489244,;WDR52,downstream_gene_variant,,ENST00000484923,;WDR52,downstream_gene_variant,,ENST00000461734,;	3982	55	31	SUCCESS
ATR	545	.	GRCh37	3	142275251	142275251	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	83	0	ENST00000350721.4:c.2052T>G	p.Ser684=	p.S684=	ENST00000350721	NM_001184.3	684	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3124.1	2052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAAGAATT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	9/47	.	.	.	.	.	.	.	.	.	9/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,synonymous_variant,p.%3D,ENST00000515149,;ATR,synonymous_variant,p.%3D,ENST00000383101,;ATR,synonymous_variant,p.%3D,ENST00000350721,;ATR,non_coding_transcript_exon_variant,,ENST00000515863,;ATR,downstream_gene_variant,,ENST00000507148,;	2174	83	74	SUCCESS
ARHGEF26	26084	.	GRCh37	3	153840804	153840804	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1000804071	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	36	0	ENST00000356448.4:c.1023G>T	p.Gln341His	p.Q341H	ENST00000356448	NM_001251962.1	341	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS46938.1	1023	RADIA|VARSCANS	.	TCCCAGCCTGT	NONE	.	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4	.	.	ENSP00000348828	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000356448	Transcript	.	.	ENSG00000114790	24490	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.414)	.	deleterious(0.03)	.	ARHGQ_HUMAN	ARHGEF26	HGNC	.	.	UPI00001410D0	SNV	ARHGEF26,missense_variant,p.Gln341His,ENST00000465817,;ARHGEF26,missense_variant,p.Gln341His,ENST00000465093,;ARHGEF26,missense_variant,p.Gln341His,ENST00000356448,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000491862,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000467912,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000480639,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000479270,;ARHGEF26,missense_variant,p.Gln341His,ENST00000496710,;	1307	36	35	SUCCESS
NMD3	51068	.	GRCh37	3	160960387	160960387	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	66	1	ENST00000351193.2:c.963C>T	p.Cys321=	p.C321=	ENST00000351193	NM_015938.3	321	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS3194.1	963	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCAGCAT	NONE	.	.	hmmpanther:PTHR12746,hmmpanther:PTHR12746:SF2	.	.	ENSP00000419004	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000460469	Transcript	.	.	ENSG00000169251	24250	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NMD3_HUMAN	NMD3	HGNC	C9K0C2_HUMAN,C9J0B9_HUMAN,C9IZW9_HUMAN,C9IY70_HUMAN,B4DKU1_HUMAN	.	UPI0000035FBE	SNV	NMD3,synonymous_variant,p.%3D,ENST00000472947,;NMD3,synonymous_variant,p.%3D,ENST00000460469,;NMD3,synonymous_variant,p.%3D,ENST00000351193,;NMD3,downstream_gene_variant,,ENST00000493066,;NMD3,downstream_gene_variant,,ENST00000463518,;	1418	67	49	SUCCESS
WDR17	116966	.	GRCh37	4	177071281	177071281	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	78	1	ENST00000280190.4:c.2207A>T	p.Asn736Ile	p.N736I	ENST00000280190		736	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS3825.1	2207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTAATTCTC	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344	.	.	ENSP00000280190	.	16/31	.	.	.	.	.	.	.	.	.	16/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious(0.01)	.	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Asn719Ile,ENST00000507824,;WDR17,missense_variant,p.Asn736Ile,ENST00000280190,;WDR17,missense_variant,p.Asn712Ile,ENST00000508596,;WDR17,missense_variant,p.Asn712Ile,ENST00000393643,;WDR17,upstream_gene_variant,,ENST00000443118,;	2363	79	70	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6087184	6087184	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	30	0	ENST00000282924.5:c.797C>G	p.Pro266Arg	p.P266R	ENST00000282924	NM_144720.3	266	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS47005.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGGGCGGG	NONE	.	.	hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	tolerated(0.05)	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,missense_variant,p.Pro266Arg,ENST00000409021,;JAKMIP1,missense_variant,p.Pro266Arg,ENST00000409831,;JAKMIP1,missense_variant,p.Pro266Arg,ENST00000282924,;JAKMIP1,missense_variant,p.Pro101Arg,ENST00000409371,;JAKMIP1,missense_variant,p.Pro101Arg,ENST00000410077,;JAKMIP1,non_coding_transcript_exon_variant,,ENST00000457227,;JAKMIP1,missense_variant,p.Pro266Arg,ENST00000473053,;	1247	30	16	SUCCESS
PCDHB5	26167	.	GRCh37	5	140516880	140516880	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1487998791	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	8	0	ENST00000231134.5:c.1864G>C	p.Glu622Gln	p.E622Q	ENST00000231134	NM_015669.2	622	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS4247.1	1864	MUTECT|MUSE	.	ATGGCGAGGTG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	COSM3610659	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	1	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,missense_variant,p.Glu622Gln,ENST00000231134,;	2081	8	10	SUCCESS
MFAP3	4238	.	GRCh37	5	153429404	153429404	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759103854	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	112	0	ENST00000322602.5:c.122A>G	p.Asn41Ser	p.N41S	ENST00000322602		41	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS4324.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAATGCAT	NONE	.	.	hmmpanther:PTHR14340:SF3,hmmpanther:PTHR14340	.	.	ENSP00000409933	.	2/3	.	.	.	.	.	.	.	.	rs759103854	2/3	PASS	ENST00000436816	Transcript	.	.	ENSG00000037749	7034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated_low_confidence(0.07)	.	MFAP3_HUMAN	MFAP3	HGNC	E5RJ59_HUMAN,E5RHQ6_HUMAN	.	UPI00000012A1	SNV	MFAP3,missense_variant,p.Asn41Ser,ENST00000436816,;MFAP3,missense_variant,p.Asn41Ser,ENST00000322602,;MFAP3,missense_variant,p.Asn41Ser,ENST00000522782,;MFAP3,missense_variant,p.Asn41Ser,ENST00000522177,;MFAP3,intron_variant,,ENST00000439768,;MFAP3,downstream_gene_variant,,ENST00000520899,;MFAP3,non_coding_transcript_exon_variant,,ENST00000519928,;MFAP3,intron_variant,,ENST00000520327,;MFAP3,intron_variant,,ENST00000521527,;	341	112	79	SUCCESS
ESR1	2099	.	GRCh37	6	152415519	152415519	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	46	0	ENST00000206249.3:c.1370-1G>A		p.X457_splice	ENST00000206249	NM_000125.3	457		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5234.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAGGAGTG	NONE	.	.	.	.	.	ENSP00000405330	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000440973	Transcript	.	.	ENSG00000091831	3467	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESR1_HUMAN	ESR1	HGNC	Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN	.	UPI000004A328	SNV	ESR1,splice_acceptor_variant,,ENST00000440973,;ESR1,splice_acceptor_variant,,ENST00000338799,;ESR1,splice_acceptor_variant,,ENST00000443427,;ESR1,splice_acceptor_variant,,ENST00000456483,;ESR1,splice_acceptor_variant,,ENST00000206249,;ESR1,splice_acceptor_variant,,ENST00000406599,;ESR1,intron_variant,,ENST00000427531,;	.	46	35	SUCCESS
CCR6	1235	.	GRCh37	6	167550438	167550438	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	53	1	ENST00000341935.5:c.720C>T	p.Thr240=	p.T240=	ENST00000341935	NM_031409.3	240	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5298.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCTTGGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF24,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000343952	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341935	Transcript	.	.	ENSG00000112486	1607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR6_HUMAN	CCR6	HGNC	.	.	UPI00000008CE	SNV	CCR6,synonymous_variant,p.%3D,ENST00000341935,;CCR6,synonymous_variant,p.%3D,ENST00000400926,;CCR6,synonymous_variant,p.%3D,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	1272	54	50	SUCCESS
C6orf15	29113	.	GRCh37	6	31079732	31079732	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	38	1	ENST00000259870.3:c.404T>A	p.Leu135His	p.L135H	ENST00000259870	NM_014070.2	135	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS4693.1	404	MUTECT|MUSE|VARSCANS	.	AAGAGAGTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15817,hmmpanther:PTHR15817:SF2	.	.	ENSP00000259870	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259870	Transcript	.	.	ENSG00000204542	13927	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.418)	.	deleterious(0.01)	.	CF015_HUMAN	C6orf15	HGNC	M1T2K5_HUMAN	.	UPI000000D748	SNV	C6orf15,missense_variant,p.Leu135His,ENST00000259870,;CDSN,downstream_gene_variant,,ENST00000376288,;PSORS1C1,upstream_gene_variant,,ENST00000259881,;PSORS1C1,upstream_gene_variant,,ENST00000467107,;PSORS1C1,upstream_gene_variant,,ENST00000479581,;PSORS1C1,upstream_gene_variant,,ENST00000493289,;PSORS1C1,upstream_gene_variant,,ENST00000548049,;PSORS1C1,upstream_gene_variant,,ENST00000552747,;PSORS1C1,upstream_gene_variant,,ENST00000550838,;	408	40	22	SUCCESS
SKIV2L	6499	.	GRCh37	6	31935834	31935834	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	46	0	ENST00000375394.2:c.2833A>G	p.Ser945Gly	p.S945G	ENST00000375394	NM_006929.4	945	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS4731.1	2833	RADIA|MUSE	.	ACTTCAGCAAG	NONE	.	.	hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,PIRSF_domain:PIRSF005198	.	.	ENSP00000364543	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000375394	Transcript	.	.	ENSG00000204351	10898	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.049)	.	tolerated(0.36)	.	SKIV2_HUMAN	SKIV2L	HGNC	Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN	.	UPI000045740B	SNV	SKIV2L,missense_variant,p.Ser752Gly,ENST00000544581,;SKIV2L,missense_variant,p.Ser945Gly,ENST00000375394,;DXO,downstream_gene_variant,,ENST00000495340,;SKIV2L,upstream_gene_variant,,ENST00000491994,;STK19,upstream_gene_variant,,ENST00000375331,;DXO,downstream_gene_variant,,ENST00000375356,;STK19,upstream_gene_variant,,ENST00000460018,;DXO,downstream_gene_variant,,ENST00000375349,;STK19,upstream_gene_variant,,ENST00000375333,;DXO,downstream_gene_variant,,ENST00000337523,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000461915,;SKIV2L,upstream_gene_variant,,ENST00000470453,;STK19,upstream_gene_variant,,ENST00000463823,;SKIV2L,upstream_gene_variant,,ENST00000471818,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;STK19,upstream_gene_variant,,ENST00000466336,;DXO,downstream_gene_variant,,ENST00000478221,;SKIV2L,missense_variant,p.Ser70Gly,ENST00000483553,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000494058,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000484835,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;DXO,downstream_gene_variant,,ENST00000473976,;DXO,downstream_gene_variant,,ENST00000492946,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000469907,;DXO,downstream_gene_variant,,ENST00000480240,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000477826,;STK19,upstream_gene_variant,,ENST00000479644,;STK19,upstream_gene_variant,,ENST00000483801,;DXO,downstream_gene_variant,,ENST00000491327,;STK19,upstream_gene_variant,,ENST00000466132,;DXO,downstream_gene_variant,,ENST00000460058,;DXO,downstream_gene_variant,,ENST00000485557,;STK19,upstream_gene_variant,,ENST00000492583,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,upstream_gene_variant,,ENST00000485349,;	2946	46	28	SUCCESS
LMOD2	442721	.	GRCh37	7	123303229	123303229	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762463208	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	91	0	ENST00000458573.2:c.1589G>A	p.Arg530Gln	p.R530Q	ENST00000458573	NM_207163.1	530	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS47693.1	1589	MUTECT|MUSE	.	AATTCGGGGAA	NONE	.	.	hmmpanther:PTHR10901:SF12,hmmpanther:PTHR10901,PROSITE_profiles:PS51082	.	.	ENSP00000411932	.	2/3	.	.	.	.	.	.	.	.	rs762463208	2/3	PASS	ENST00000458573	Transcript	.	.	ENSG00000170807	6648	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	LMOD2_HUMAN	LMOD2	HGNC	B4DUL7_HUMAN	.	UPI0001572CCA	SNV	LMOD2,missense_variant,p.Arg530Gln,ENST00000458573,;LMOD2,missense_variant,p.Arg137Gln,ENST00000456238,;	1746	91	77	SUCCESS
HIPK2	28996	.	GRCh37	7	139258131	139258131	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	26	0	ENST00000406875.3:c.3139A>G	p.Ile1047Val	p.I1047V	ENST00000406875	NM_022740.4	1047	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	.	3139	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GGTGATGTGCT	NONE	.	.	.	.	.	ENSP00000385571	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.58)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Ile1020Val,ENST00000428878,;HIPK2,missense_variant,p.Ile1047Val,ENST00000406875,;	3234	26	12	SUCCESS
OR2F1	26211	.	GRCh37	7	143657370	143657370	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777034277	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	91	0	ENST00000392899.1:c.307T>C	p.Phe103Leu	p.F103L	ENST00000392899	NM_012369.2	103	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS5887.1	307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTTCTCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF116,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000376633	.	1/1	.	.	.	.	.	.	.	.	rs777034277	1/1	PASS	ENST00000392899	Transcript	.	.	ENSG00000213215	8246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.27)	.	OR2F1_HUMAN	OR2F1	HGNC	.	.	UPI000003FF87	SNV	OR2F1,missense_variant,p.Phe103Leu,ENST00000392899,;RP4-669B10.3,intron_variant,,ENST00000470988,;RP4-669B10.3,downstream_gene_variant,,ENST00000466281,;	344	91	60	SUCCESS
SAMD9	54809	.	GRCh37	7	92733863	92733863	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1410424628	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	68	0	ENST00000379958.2:c.1548A>T	p.Glu516Asp	p.E516D	ENST00000379958	NM_017654.3	516	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS34680.1	1548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTTCTCT	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.53)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Glu516Asp,ENST00000446617,;SAMD9,missense_variant,p.Glu516Asp,ENST00000379958,;	1818	68	49	SUCCESS
LRRC6	0	.	GRCh37	8	133584681	133584681	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	274	43	226	2	ENST00000250173.1:c.1274T>C	p.Phe425Ser	p.F425S	ENST00000250173		425	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS6365.1	1274	RADIA|VARSCANS	.	CAGGGAATGAG	NONE	.	.	hmmpanther:PTHR10588:SF114,hmmpanther:PTHR10588	.	.	ENSP00000250173	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000250173	Transcript	1	.	ENSG00000129295	16725	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.19)	.	TILB_HUMAN	LRRC6	HGNC	.	.	UPI000000DBC5	SNV	LRRC6,missense_variant,p.Phe425Ser,ENST00000519595,;LRRC6,missense_variant,p.Phe425Ser,ENST00000250173,;LRRC6,missense_variant,p.Phe165Ser,ENST00000522789,;LRRC6,3_prime_UTR_variant,,ENST00000518642,;LRRC6,non_coding_transcript_exon_variant,,ENST00000522597,;	1348	228	317	SUCCESS
COMMD5	28991	.	GRCh37	8	146076517	146076517	+	synonymous_variant	Silent	SNP	C	C	T	rs421427	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	12	0	ENST00000305103.3:c.207G>A	p.Gln69=	p.Q69=	ENST00000305103	NM_014066.3	69	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS6436.1	207	RADIA|VARSCANS	.	AGACGCTGCAC	NONE	.	.	Pfam_domain:PF07258,hmmpanther:PTHR15666:SF1,hmmpanther:PTHR15666	.	.	ENSP00000394331	.	2/2	.	.	.	.	.	.	.	.	rs421427	2/2	PASS	ENST00000450361	Transcript	.	.	ENSG00000170619	17902	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COMD5_HUMAN	COMMD5	HGNC	E9PJE4_HUMAN	.	UPI000004A08E	SNV	COMMD5,synonymous_variant,p.%3D,ENST00000305103,;COMMD5,synonymous_variant,p.%3D,ENST00000450361,;COMMD5,synonymous_variant,p.%3D,ENST00000402718,;COMMD5,synonymous_variant,p.%3D,ENST00000533270,;COMMD5,synonymous_variant,p.%3D,ENST00000529143,;ZNF7,downstream_gene_variant,,ENST00000325217,;ZNF7,downstream_gene_variant,,ENST00000525266,;ZNF250,downstream_gene_variant,,ENST00000543949,;AF235103.1,upstream_gene_variant,,ENST00000578937,;COMMD5,synonymous_variant,p.%3D,ENST00000530332,;	629	12	28	SUCCESS
PTK2B	2185	.	GRCh37	8	27279849	27279849	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	46	0	ENST00000346049.5:c.500C>A	p.Ala167Asp	p.A167D	ENST00000346049	NM_173176.2	167	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS6057.1	500	MUSE|VARSCANS	.	CTACGCCAGCA	NONE	.	.	Superfamily_domains:SSF47031,SMART_domains:SM00295,Pfam_domain:PF00373,Gene3D:1.20.80.10,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF94,PROSITE_profiles:PS50057	.	.	ENSP00000380638	.	10/36	.	.	.	.	.	.	.	.	.	10/36	PASS	ENST00000397501	Transcript	.	.	ENSG00000120899	9612	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	FAK2_HUMAN	PTK2B	HGNC	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN	.	UPI000000D9EC	SNV	PTK2B,missense_variant,p.Ala167Asp,ENST00000338238,;PTK2B,missense_variant,p.Ala167Asp,ENST00000517339,;PTK2B,missense_variant,p.Ala167Asp,ENST00000420218,;PTK2B,missense_variant,p.Ala167Asp,ENST00000522517,;PTK2B,missense_variant,p.Ala167Asp,ENST00000544172,;PTK2B,missense_variant,p.Ala167Asp,ENST00000412793,;PTK2B,missense_variant,p.Ala167Asp,ENST00000397501,;PTK2B,missense_variant,p.Ala167Asp,ENST00000346049,;PTK2B,downstream_gene_variant,,ENST00000521164,;PTK2B,non_coding_transcript_exon_variant,,ENST00000521000,;	1308	46	21	SUCCESS
POMK	84197	.	GRCh37	8	42977499	42977499	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	48	2	ENST00000331373.5:c.532A>G	p.Arg178Gly	p.R178G	ENST00000331373	NM_032237.4	178	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS6141.1	532	SOMATICSNIPER|VARSCANS	.	AGCACAGGCTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22618,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000331258	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331373	Transcript	1	.	ENSG00000185900	26267	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SG196_HUMAN	POMK	HGNC	E5RJD5_HUMAN	.	UPI000003C970	SNV	POMK,missense_variant,p.Arg178Gly,ENST00000331373,;POMK,downstream_gene_variant,,ENST00000518991,;RP11-598P20.3,downstream_gene_variant,,ENST00000517759,;	787	50	21	SUCCESS
ASPH	444	.	GRCh37	8	62475310	62475310	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	12	57	1	ENST00000379454.4:c.1430A>T	p.Tyr477Phe	p.Y477F	ENST00000379454	NM_004318.3	477	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS34898.1	1430	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATAAACT	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF20,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000368767	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	tolerated(0.21)	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,missense_variant,p.Tyr448Phe,ENST00000541428,;ASPH,missense_variant,p.Tyr477Phe,ENST00000379454,;ASPH,downstream_gene_variant,,ENST00000524173,;	1618	58	94	SUCCESS
PTGR1	22949	.	GRCh37	9	114348335	114348335	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	16	102	0	ENST00000309195.5:c.320C>T	p.Thr107Ile	p.T107I	ENST00000309195	NM_012212.3	107	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS6779.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTGTCAGC	NONE	.	.	hmmpanther:PTHR11695:SF5,hmmpanther:PTHR11695,Gene3D:3.90.180.10,TIGRFAM_domain:TIGR02825,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000385763	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000407693	Transcript	.	.	ENSG00000106853	18429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.21)	.	PTGR1_HUMAN	PTGR1	HGNC	.	.	UPI000012E24A	SNV	PTGR1,missense_variant,p.Thr107Ile,ENST00000538962,;PTGR1,missense_variant,p.Thr88Ile,ENST00000422125,;PTGR1,missense_variant,p.Thr107Ile,ENST00000309195,;PTGR1,missense_variant,p.Thr107Ile,ENST00000407693,;PTGR1,5_prime_UTR_variant,,ENST00000238248,;PTGR1,3_prime_UTR_variant,,ENST00000374324,;	583	102	65	SUCCESS
GLE1	2733	.	GRCh37	9	131295815	131295815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	48	1	ENST00000309971.4:c.1336G>A	p.Asp446Asn	p.D446N	ENST00000309971	NM_001003722.1	446	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS35154.1	1336	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTTTGACAAG	NONE	.	.	hmmpanther:PTHR12960:SF0,hmmpanther:PTHR12960,Pfam_domain:PF07817	.	.	ENSP00000308622	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000309971	Transcript	.	.	ENSG00000119392	4315	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.363)	.	tolerated(0.1)	.	GLE1_HUMAN	GLE1	HGNC	B3KMG0_HUMAN	.	UPI000013EF77	SNV	GLE1,missense_variant,p.Asp446Asn,ENST00000372770,;GLE1,missense_variant,p.Asp446Asn,ENST00000309971,;GLE1,missense_variant,p.Asp192Asn,ENST00000539582,;RP11-216B9.6,intron_variant,,ENST00000434999,;GLE1,non_coding_transcript_exon_variant,,ENST00000494417,;	1442	50	49	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18639393	18639393	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	51	0	ENST00000380548.4:c.818C>T	p.Ala273Val	p.A273V	ENST00000380548	NM_001040272.5	273	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47954.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCAGATT	NONE	.	.	hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	.	.	ENSP00000369921	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	deleterious(0)	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Ala273Val,ENST00000380566,;ADAMTSL1,missense_variant,p.Ala273Val,ENST00000380548,;ADAMTSL1,missense_variant,p.Ala273Val,ENST00000276935,;ADAMTSL1,missense_variant,p.Ala273Val,ENST00000327883,;	1157	51	39	SUCCESS
IFNA14	3448	.	GRCh37	9	21239523	21239523	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1382887282	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	93	0	ENST00000380222.2:c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000380222	NM_002172.2	138	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6501.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCCTCAT	NONE	.	.	hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266	.	.	ENSP00000369571	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380222	Transcript	.	.	ENSG00000228083	5420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	IFN14_HUMAN	IFNA14	HGNC	.	.	UPI00000541D5	SNV	IFNA14,missense_variant,p.Asp138Tyr,ENST00000380222,;	456	93	44	SUCCESS
KIF24	347240	.	GRCh37	9	34310818	34310818	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	160	0	ENST00000379166.2:c.527A>G	p.Tyr176Cys	p.Y176C	ENST00000379166	NM_194313.2	176	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6551.2	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGTAATTT	NONE	.	.	.	.	.	ENSP00000368464	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000379166	Transcript	.	.	ENSG00000186638	19916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	tolerated(0.1)	.	KIF24_HUMAN	KIF24	HGNC	.	.	UPI00004F9D23	SNV	KIF24,missense_variant,p.Tyr176Cys,ENST00000345050,;KIF24,missense_variant,p.Tyr176Cys,ENST00000379166,;KIF24,missense_variant,p.Tyr176Cys,ENST00000402558,;KIF24,missense_variant,p.Tyr176Cys,ENST00000379174,;	647	160	123	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43915846	43915846	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	76	0	ENST00000377564.3:c.3694G>T	p.Glu1232Ter	p.E1232*	ENST00000377564	NM_001201380.1	1232	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS55312.1	3694	MUTECT|VARSCANS	.	TGGATGAGGGA	NONE	.	.	hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127	.	.	ENSP00000366787	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,stop_gained,p.Glu1232Ter,ENST00000377564,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000467854,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000484254,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000476961,;	4087	76	41	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43915847	43915847	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	74	0	ENST00000377564.3:c.3695A>T	p.Glu1232Val	p.E1232V	ENST00000377564	NM_001201380.1	1232	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS55312.1	3695	MUTECT|VARSCANS	.	GGATGAGGGAG	NONE	.	.	hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127	.	.	ENSP00000366787	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.477)	.	deleterious(0.02)	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,missense_variant,p.Glu1232Val,ENST00000377564,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000467854,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000484254,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000476961,;	4088	74	42	SUCCESS
FGD3	89846	.	GRCh37	9	95738622	95738622	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	37	1	ENST00000337352.6:c.84C>A	p.Ser28=	p.S28=	ENST00000337352	NM_033086.2	28	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS43849.1	84	SOMATICSNIPER|VARSCANS	.	TCCTCCCTAGG	NONE	.	.	hmmpanther:PTHR12673:SF14,hmmpanther:PTHR12673	.	.	ENSP00000364631	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000375482	Transcript	.	.	ENSG00000127084	16027	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FGD3_HUMAN	FGD3	HGNC	B4DXH4_HUMAN	.	UPI0000199249	SNV	FGD3,synonymous_variant,p.%3D,ENST00000416701,;FGD3,synonymous_variant,p.%3D,ENST00000375482,;FGD3,synonymous_variant,p.%3D,ENST00000337352,;FGD3,non_coding_transcript_exon_variant,,ENST00000468206,;FGD3,non_coding_transcript_exon_variant,,ENST00000494669,;FGD3,synonymous_variant,p.%3D,ENST00000467786,;	580	38	30	SUCCESS
ARHGEF6	9459	.	GRCh37	X	135862939	135862939	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	38	1	ENST00000250617.6:c.103C>A	p.Leu35Met	p.L35M	ENST00000250617	NM_004840.2	35	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS14660.1	103	MUTECT|MUSE	.	TTTCAGCGAGG	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576,Prints_domain:PR00888	.	.	ENSP00000250617	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000250617	Transcript	.	.	ENSG00000129675	685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ARHG6_HUMAN	ARHGEF6	HGNC	.	.	UPI0000001C8E	SNV	ARHGEF6,missense_variant,p.Leu35Met,ENST00000250617,;	1309	39	32	SUCCESS
TMEM187	8269	.	GRCh37	X	153247691	153247691	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782084731	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	21	35	0	ENST00000369982.4:c.178G>A	p.Val60Met	p.V60M	ENST00000369982	NM_003492.2	60	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS14739.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCGTGAAC	NONE	byFrequency	.	Pfam_domain:PF15100,hmmpanther:PTHR15066,Transmembrane_helices:TMhelix	.	.	ENSP00000358999	.	2/2	.	.	.	.	.	.	.	.	rs782084731	2/2	PASS	ENST00000369982	Transcript	.	.	ENSG00000177854	13705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	TM187_HUMAN	TMEM187	HGNC	C9JV55_HUMAN,C9JIP7_HUMAN	.	UPI000012D0DC	SNV	TMEM187,missense_variant,p.Val60Met,ENST00000425274,;TMEM187,missense_variant,p.Val60Met,ENST00000369982,;TMEM187,downstream_gene_variant,,ENST00000431598,;MIR3202-1,downstream_gene_variant,,ENST00000580198,;	925	35	34	SUCCESS
AHNAK	79026	.	GRCh37	11	62286773	62286773	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	26	130	0	ENST00000378024.4:c.15116A>T	p.Lys5039Ile	p.K5039I	ENST00000378024	NM_001620.2	5039	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS31584.1	15116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTTTTTTG	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Lys5039Ile,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	15391	130	117	SUCCESS
ARFIP2	23647	.	GRCh37	11	6501684	6501684	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	24	0	ENST00000254584.2:c.-2-31G>A		p.*1*	ENST00000254584	NM_012402.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7765.1	.	MUTECT|MUSE	.	CTCCACCCCAG	NONE	.	.	.	.	.	ENSP00000254584	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254584	Transcript	.	.	ENSG00000132254	17160	.	.	MODIFIER	1/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARFP2_HUMAN	ARFIP2	HGNC	B4DXH2_HUMAN	.	UPI000012566A	SNV	ARFIP2,5_prime_UTR_variant,,ENST00000525235,;ARFIP2,5_prime_UTR_variant,,ENST00000396777,;ARFIP2,intron_variant,,ENST00000254584,;ARFIP2,intron_variant,,ENST00000445086,;ARFIP2,intron_variant,,ENST00000423813,;TIMM10B,upstream_gene_variant,,ENST00000254616,;TIMM10B,upstream_gene_variant,,ENST00000530751,;ARFIP2,non_coding_transcript_exon_variant,,ENST00000530410,;ARFIP2,non_coding_transcript_exon_variant,,ENST00000529847,;ARFIP2,intron_variant,,ENST00000531037,;TIMM10B,upstream_gene_variant,,ENST00000531462,;TIMM10B,upstream_gene_variant,,ENST00000533379,;TIMM10B,upstream_gene_variant,,ENST00000528908,;ARFIP2,downstream_gene_variant,,ENST00000525329,;TIMM10B,upstream_gene_variant,,ENST00000464330,;TIMM10B,upstream_gene_variant,,ENST00000472836,;	.	24	25	SUCCESS
PIWIL4	143689	.	GRCh37	11	94352999	94352999	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	48	170	0	ENST00000299001.6:c.2242C>A	p.Gln748Lys	p.Q748K	ENST00000299001	NM_152431.2	748	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS31656.1	2242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTACAGAAC	NONE	.	.	PROSITE_profiles:PS50822,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098	.	.	ENSP00000299001	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000299001	Transcript	.	.	ENSG00000134627	18444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.15)	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,missense_variant,p.Gln748Lys,ENST00000299001,;PIWIL4,missense_variant,p.Gln99Lys,ENST00000537419,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,3_prime_UTR_variant,,ENST00000446230,;PIWIL4,downstream_gene_variant,,ENST00000543336,;	2453	171	136	SUCCESS
UTP20	27340	.	GRCh37	12	101679570	101679570	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	81	0	ENST00000261637.4:c.237T>C	p.Asn79=	p.N79=	ENST00000261637	NM_014503.2	79	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS9081.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAATCAGTT	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	4/62	.	.	.	.	.	.	.	.	.	4/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,synonymous_variant,p.%3D,ENST00000261637,;UTP20,non_coding_transcript_exon_variant,,ENST00000551825,;UTP20,upstream_gene_variant,,ENST00000551998,;	411	81	83	SUCCESS
PTGDR	5729	.	GRCh37	14	52735240	52735240	+	synonymous_variant	Silent	SNP	G	G	A	rs1172867034	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	31	0	ENST00000306051.2:c.708G>A	p.Pro236=	p.P236=	ENST00000306051	NM_000953.2	236	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9707.1	708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGCGCTC	NONE	.	.	Prints_domain:PR00854,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR11866:SF14,hmmpanther:PTHR11866,PROSITE_profiles:PS50262	.	.	ENSP00000303424	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000306051	Transcript	.	.	ENSG00000168229	9591	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PD2R_HUMAN	PTGDR	HGNC	.	.	UPI000000D994	SNV	PTGDR,synonymous_variant,p.%3D,ENST00000553372,;PTGDR,synonymous_variant,p.%3D,ENST00000306051,;	810	31	42	SUCCESS
PGBD4	161779	.	GRCh37	15	34394935	34394935	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	58	0	ENST00000397766.2:c.203A>C	p.Asp68Ala	p.D68A	ENST00000397766	NM_152595.4	68	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS10033.1	203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGACTCAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000380872	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000397766	Transcript	.	.	ENSG00000182405	19401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.93)	.	PGBD4_HUMAN	PGBD4	HGNC	.	.	UPI0000161593	SNV	PGBD4,missense_variant,p.Asp68Ala,ENST00000397766,;EMC7,upstream_gene_variant,,ENST00000256545,;EMC7,upstream_gene_variant,,ENST00000528949,;EMC7,upstream_gene_variant,,ENST00000527822,;EMC7,upstream_gene_variant,,ENST00000532113,;	662	58	60	SUCCESS
LRRC49	54839	.	GRCh37	15	71329548	71329548	+	synonymous_variant	Silent	SNP	C	C	T	rs1186776268	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	28	365	0	ENST00000260382.5:c.1734C>T	p.Ser578=	p.S578=	ENST00000260382	NM_001199017.1	578	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS58376.1	1749	MUTECT|MUSE|VARSCANS	.	GAATCCAAAGG	NONE	.	.	hmmpanther:PTHR10588:SF5,hmmpanther:PTHR10588	.	.	ENSP00000453273	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000560369	Transcript	.	.	ENSG00000137821	25965	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRC49_HUMAN	LRRC49	HGNC	H0YNV5_HUMAN,H0YNI5_HUMAN,H0YLQ8_HUMAN,H0YKI5_HUMAN,H0YKE9_HUMAN	.	UPI0001E92A32	SNV	LRRC49,synonymous_variant,p.%3D,ENST00000260382,;LRRC49,synonymous_variant,p.%3D,ENST00000544974,;LRRC49,synonymous_variant,p.%3D,ENST00000560158,;LRRC49,synonymous_variant,p.%3D,ENST00000443425,;LRRC49,synonymous_variant,p.%3D,ENST00000560369,;LRRC49,synonymous_variant,p.%3D,ENST00000560691,;LRRC49,non_coding_transcript_exon_variant,,ENST00000436542,;LRRC49,3_prime_UTR_variant,,ENST00000560107,;LRRC49,3_prime_UTR_variant,,ENST00000561081,;	2018	365	321	SUCCESS
C16orf59	0	.	GRCh37	16	2514087	2514087	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770801282	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	7	85	0	ENST00000361837.4:c.1012G>A	p.Gly338Arg	p.G338R	ENST00000361837	NM_025108.2	338	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10468.2	1012	MUTECT|MUSE|VARSCANS	.	CCCCCGGAGCC	NONE	byFrequency	.	hmmpanther:PTHR14870,Low_complexity_(Seg):seg	.	.	ENSP00000355022	.	9/10	.	.	.	.	.	.	.	.	rs770801282	9/10	PASS	ENST00000361837	Transcript	.	.	ENSG00000162062	25849	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	CP059_HUMAN	C16orf59	HGNC	H3BPH1_HUMAN	.	UPI000059D2F3	SNV	C16orf59,missense_variant,p.Gly338Arg,ENST00000361837,;C16orf59,missense_variant,p.Gly338Arg,ENST00000569496,;C16orf59,missense_variant,p.Gly338Arg,ENST00000563531,;C16orf59,missense_variant,p.Gly92Arg,ENST00000568753,;C16orf59,missense_variant,p.Gly171Arg,ENST00000483320,;C16orf59,downstream_gene_variant,,ENST00000567489,;RP11-715J22.4,upstream_gene_variant,,ENST00000566085,;RP11-715J22.4,upstream_gene_variant,,ENST00000565827,;RP11-715J22.2,downstream_gene_variant,,ENST00000563775,;C16orf59,non_coding_transcript_exon_variant,,ENST00000569994,;C16orf59,intron_variant,,ENST00000565716,;C16orf59,downstream_gene_variant,,ENST00000562253,;C16orf59,downstream_gene_variant,,ENST00000569665,;C16orf59,downstream_gene_variant,,ENST00000569664,;C16orf59,downstream_gene_variant,,ENST00000565537,;C16orf59,downstream_gene_variant,,ENST00000566580,;	1077	85	81	SUCCESS
HOXB7	3217	.	GRCh37	17	46688035	46688035	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	27	137	0	ENST00000239165.7:c.246G>T	p.Pro82=	p.P82=	ENST00000239165	NM_004502.3	82	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11532.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCGGCTC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF129	.	.	ENSP00000239165	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239165	Transcript	.	.	ENSG00000260027	5118	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,synonymous_variant,p.%3D,ENST00000239165,;HOXB8,downstream_gene_variant,,ENST00000468443,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB8,downstream_gene_variant,,ENST00000576562,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,intron_variant,,ENST00000567101,;HOXB7,upstream_gene_variant,,ENST00000467314,;	345	137	108	SUCCESS
APOH	350	.	GRCh37	17	64210603	64210603	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs775916134	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	8	182	0	ENST00000205948.6:c.950A>C	p.Asp317Ala	p.D317A	ENST00000205948	NM_000042.2	317	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS11663.1	950	MUTECT|MUSE	.	TGCCATCTATA	NONE	.	.	Superfamily_domains:SSF57535,Pfam_domain:PF09014,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF46	.	.	ENSP00000205948	.	7/8	.	.	.	.	.	.	.	.	rs775916134	7/8	PASS	ENST00000205948	Transcript	.	.	ENSG00000091583	616	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	APOH_HUMAN	APOH	HGNC	J3QRN2_HUMAN,J3QLI0_HUMAN,D9IWP9_HUMAN	.	UPI0000125CAA	SNV	APOH,missense_variant,p.Asp317Ala,ENST00000205948,;APOH,intron_variant,,ENST00000585162,;APOH,downstream_gene_variant,,ENST00000581797,;	988	182	123	SUCCESS
CTC1	80169	.	GRCh37	17	8139600	8139600	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	38	0	ENST00000315684.8:c.853G>A	p.Glu285Lys	p.E285K	ENST00000315684	NM_025099.5	285	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS42259.1	853	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCTGTCA	NONE	.	.	hmmpanther:PTHR14865,Pfam_domain:PF15489	.	.	ENSP00000313759	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000315684	Transcript	.	.	ENSG00000178971	26169	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.311)	.	tolerated(0.61)	.	CTC1_HUMAN	CTC1	HGNC	.	.	UPI000041A9A9	SNV	CTC1,missense_variant,p.Glu285Lys,ENST00000315684,;CTC1,non_coding_transcript_exon_variant,,ENST00000581671,;CTC1,missense_variant,p.Glu250Lys,ENST00000449476,;CTC1,downstream_gene_variant,,ENST00000584842,;CTC1,upstream_gene_variant,,ENST00000578441,;CTC1,upstream_gene_variant,,ENST00000578537,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,upstream_gene_variant,,ENST00000583254,;CTC1,upstream_gene_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000578240,;	861	38	34	SUCCESS
TECR	9524	.	GRCh37	19	14674899	14674899	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1402929106	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	34	0	ENST00000215567.5:c.373A>G	p.Thr125Ala	p.T125A	ENST00000215567	NM_138501.5	125	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS12313.1	373	RADIA|VARSCANS	.	GGCATACAGTG	NONE	.	.	hmmpanther:PTHR10556:SF31,hmmpanther:PTHR10556	.	.	ENSP00000215567	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000215567	Transcript	1	.	ENSG00000099797	4551	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.51)	.	TECR_HUMAN	TECR	HGNC	M0R0N5_HUMAN,M0QXS1_HUMAN,B4DR74_HUMAN	.	UPI00000534C6	SNV	TECR,missense_variant,p.Thr140Ala,ENST00000436007,;TECR,missense_variant,p.Thr125Ala,ENST00000215567,;TECR,5_prime_UTR_variant,,ENST00000596073,;TECR,5_prime_UTR_variant,,ENST00000594545,;TECR,5_prime_UTR_variant,,ENST00000600083,;TECR,5_prime_UTR_variant,,ENST00000598298,;NDUFB7,downstream_gene_variant,,ENST00000215565,;TECR,upstream_gene_variant,,ENST00000601187,;TECR,downstream_gene_variant,,ENST00000598715,;TECR,downstream_gene_variant,,ENST00000596164,;TECR,3_prime_UTR_variant,,ENST00000598333,;TECR,3_prime_UTR_variant,,ENST00000598987,;TECR,non_coding_transcript_exon_variant,,ENST00000601461,;TECR,non_coding_transcript_exon_variant,,ENST00000600395,;TECR,non_coding_transcript_exon_variant,,ENST00000593637,;TECR,non_coding_transcript_exon_variant,,ENST00000597607,;TECR,non_coding_transcript_exon_variant,,ENST00000596953,;TECR,non_coding_transcript_exon_variant,,ENST00000594807,;TECR,downstream_gene_variant,,ENST00000598918,;TECR,upstream_gene_variant,,ENST00000594958,;TECR,upstream_gene_variant,,ENST00000598408,;TECR,downstream_gene_variant,,ENST00000600076,;TECR,upstream_gene_variant,,ENST00000599101,;TECR,upstream_gene_variant,,ENST00000601350,;TECR,upstream_gene_variant,,ENST00000593775,;TECR,downstream_gene_variant,,ENST00000601652,;NDUFB7,downstream_gene_variant,,ENST00000593353,;	510	34	35	SUCCESS
ZNF91	7644	.	GRCh37	19	23557476	23557476	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	98	300	0	ENST00000300619.7:c.121G>T	p.Val41Leu	p.V41L	ENST00000300619	NM_003430.2	41	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42541.1	121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACATTCC	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50805	.	.	ENSP00000300619	.	2/4	.	.	.	.	.	.	.	.	COSM3701451,COSM3701450	2/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.009)	.	deleterious(0)	1,1	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Val41Leu,ENST00000599743,;ZNF91,missense_variant,p.Val41Leu,ENST00000397082,;ZNF91,missense_variant,p.Val41Leu,ENST00000300619,;ZNF91,intron_variant,,ENST00000595533,;ZNF91,non_coding_transcript_exon_variant,,ENST00000596989,;	327	300	275	SUCCESS
FZR1	51343	.	GRCh37	19	3532454	3532454	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	63	0	ENST00000395095.3:c.1048C>T	p.Gln350Ter	p.Q350*	ENST00000395095	NM_001136198.1	350	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS45916.1	1048	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCAGTAC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19918:SF6,hmmpanther:PTHR19918,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000378529	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,stop_gained,p.Gln261Ter,ENST00000313639,;FZR1,stop_gained,p.Gln350Ter,ENST00000395095,;FZR1,stop_gained,p.Gln350Ter,ENST00000441788,;FZR1,intron_variant,,ENST00000591290,;FZR1,upstream_gene_variant,,ENST00000586212,;FZR1,upstream_gene_variant,,ENST00000588084,;FZR1,downstream_gene_variant,,ENST00000592214,;	1048	63	46	SUCCESS
INSR	3643	.	GRCh37	19	7120659	7120659	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	103	0	ENST00000302850.5:c.3631G>A	p.Gly1211Arg	p.G1211R	ENST00000302850	NM_000208.2	1211	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12176.1	3631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCATCCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF140,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000620,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000303830	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000302850	Transcript	1	.	ENSG00000171105	6091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	INSR_HUMAN	INSR	HGNC	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN	.	UPI000020324D	SNV	INSR,missense_variant,p.Gly1211Arg,ENST00000302850,;INSR,missense_variant,p.Gly1199Arg,ENST00000341500,;INSR,non_coding_transcript_exon_variant,,ENST00000601099,;INSR,downstream_gene_variant,,ENST00000593970,;	3774	103	80	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	77	1	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	78	58	SUCCESS
PAPPA2	60676	.	GRCh37	1	176709306	176709306	+	synonymous_variant	Silent	SNP	C	C	T	rs376458121	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	77	0	ENST00000367662.3:c.4125C>T	p.Asp1375=	p.D1375=	ENST00000367662	NM_020318.2	1375	gaC/gaT	0	T:0.0023	.	.	.	.	T	D	protein_coding	YES	CCDS41438.1	4125	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACGAGGG	SITE|p.D1375D|c.4125C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR19325:SF349,hmmpanther:PTHR19325	.	T:0	ENSP00000356634	.	14/23	.	.	.	.	.	.	.	.	rs376458121,COSM900020	14/23	PASS	ENST00000367662	Transcript	.	.	ENSG00000116183	14615	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	PAPP2_HUMAN	PAPPA2	HGNC	.	.	UPI000004A835	SNV	PAPPA2,synonymous_variant,p.%3D,ENST00000367662,;	5289	77	65	SUCCESS
ASPM	259266	.	GRCh37	1	197071915	197071915	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	52	0	ENST00000367409.4:c.6466G>C	p.Gly2156Arg	p.G2156R	ENST00000367409	NM_018136.4	2156	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS1389.1	6466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCTTGAT	NONE	.	.	hmmpanther:PTHR25069:SF115,hmmpanther:PTHR25069,SMART_domains:SM00015,Superfamily_domains:SSF52540	.	.	ENSP00000356379	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	tolerated(0.12)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Gly2156Arg,ENST00000367409,;ASPM,intron_variant,,ENST00000367408,;ASPM,intron_variant,,ENST00000294732,;	6723	52	48	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204214797	204214797	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	32	0	ENST00000272203.3:c.1978G>T	p.Glu660Ter	p.E660*	ENST00000272203	NM_014935.4	660	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1444.1	1978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTCCATCA	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,stop_gained,p.Glu680Ter,ENST00000414478,;PLEKHA6,stop_gained,p.Glu660Ter,ENST00000272203,;	2295	32	31	SUCCESS
IL1F10	84639	.	GRCh37	2	113832387	113832387	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	49	171	1	ENST00000341010.2:c.206C>T	p.Ala69Val	p.A69V	ENST00000341010	NM_173161.2	69	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2112.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCATGTG	NONE	.	.	Prints_domain:PR00264,Superfamily_domains:SSF50353,SMART_domains:SM00125,Pfam_domain:PF00340,Gene3D:2.80.10.50,hmmpanther:PTHR10078:SF8,hmmpanther:PTHR10078	.	.	ENSP00000376893	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000393197	Transcript	.	.	ENSG00000136697	15552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0)	.	IL1FA_HUMAN	IL1F10	HGNC	.	.	UPI000003C9C3	SNV	IL1F10,missense_variant,p.Ala69Val,ENST00000337569,;IL1F10,missense_variant,p.Ala69Val,ENST00000341010,;IL1F10,missense_variant,p.Ala69Val,ENST00000393197,;IL1F10,non_coding_transcript_exon_variant,,ENST00000496265,;	627	173	143	SUCCESS
APOB	338	.	GRCh37	2	21230621	21230625	+	frameshift_variant	Frame_Shift_Del	DEL	GAAAA	GAAAA	-	rs1215189537	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	GAAAA	GAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	81	33	153	0	ENST00000233242.1:c.9115_9119del	p.Phe3039SerfsTer5	p.F3039Sfs*5	ENST00000233242	NM_000384.2	3039	TTTTCa/a	0	-:0	.	.	.	.	-	FS/X	protein_coding	YES	CCDS1703.1	9115-9119	INDELOCATOR|VARSCANI	.	TGGGCTGAAAAGAAAA	BUFFER|p.S3036Y|c.9107C>A|4	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	-:0.0005	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	TMP_ESP_2_21230621_21230625	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Phe3039SerfsTer5,ENST00000233242,;	9243-9247	154	114	SUCCESS
SNED1	25992	.	GRCh37	2	241979571	241979571	+	synonymous_variant	Silent	SNP	C	C	T	rs1173949099	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	56	0	ENST00000310397.8:c.1125C>T	p.Cys375=	p.C375=	ENST00000310397	NM_001080437.1	375	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS46562.1	1125	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGCCAGGC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,Pfam_domain:PF12661,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000308893	.	7/32	.	.	.	.	.	.	.	.	COSM1018795	7/32	PASS	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,synonymous_variant,p.%3D,ENST00000420591,;SNED1,synonymous_variant,p.%3D,ENST00000401644,;SNED1,synonymous_variant,p.%3D,ENST00000342631,;SNED1,synonymous_variant,p.%3D,ENST00000401884,;SNED1,synonymous_variant,p.%3D,ENST00000405547,;SNED1,synonymous_variant,p.%3D,ENST00000310397,;SNED1,synonymous_variant,p.%3D,ENST00000431690,;AC005237.4,intron_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000493358,;	1125	56	48	SUCCESS
LRPPRC	10128	.	GRCh37	2	44209519	44209519	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	11	235	0	ENST00000260665.7:c.204T>C	p.Ile68=	p.I68=	ENST00000260665	NM_133259.3	68	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS33189.1	204	MUTECT|MUSE	.	TCTTGAATATC	NONE	.	.	hmmpanther:PTHR24015:SF0,hmmpanther:PTHR24015	.	.	ENSP00000260665	.	2/38	.	.	.	.	.	.	.	.	.	2/38	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,synonymous_variant,p.%3D,ENST00000260665,;LRPPRC,synonymous_variant,p.%3D,ENST00000447246,;LRPPRC,synonymous_variant,p.%3D,ENST00000409659,;LRPPRC,synonymous_variant,p.%3D,ENST00000409946,;	262	235	193	SUCCESS
BCL11A	53335	.	GRCh37	2	60687855	60687855	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	49	0	ENST00000335712.6:c.2192G>A	p.Gly731Asp	p.G731D	ENST00000335712	NM_022893.3	731	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1862.1	2192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCCCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43	.	.	ENSP00000338774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335712	Transcript	.	.	ENSG00000119866	13221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.01)	.	BC11A_HUMAN	BCL11A	HGNC	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN	.	UPI000013DC00	SNV	BCL11A,missense_variant,p.Gly697Asp,ENST00000538214,;BCL11A,missense_variant,p.Gly697Asp,ENST00000358510,;BCL11A,missense_variant,p.Gly731Asp,ENST00000356842,;BCL11A,missense_variant,p.Gly400Asp,ENST00000537768,;BCL11A,missense_variant,p.Gly731Asp,ENST00000335712,;BCL11A,intron_variant,,ENST00000359629,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	2420	49	40	SUCCESS
PIK3CA	5290	.	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913279	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	87	0	ENST00000263967.3:c.3140A>G	p.His1047Arg	p.H1047R	ENST00000263967	NM_006218.2	1047	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS43171.1	3140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TGCACATCATG	SITE|p.H1047R|c.3140A>G|1687,SITE|p.H1047R|c.3140A>G|242,CODON|p.H1047Y|c.3139C>T|8,CODON|p.H1047Y|c.3139C>T|54,CODON|p.H1047L|c.3140A>T|236,CODON|p.H1047L|c.3140A>T|45,BUFFER|p.M1043I|c.3129G>T|4,BUFFER|p.M1043I|c.3129G>A|8,BUFFER|p.M1043I|c.3129G>T|45,BUFFER|p.M1043I|c.3129G>A|22,BUFFER|p.M1043I|c.3129G>C|4,BUFFER|p.M1043I|c.3129G>C|6,BUFFER|p.N1044D|c.3130A>G|4,BUFFER|p.N1044Y|c.3130A>T|3,BUFFER|p.N1044S|c.3131A>G|5,BUFFER|p.N1044S|c.3131A>G|3,BUFFER|p.N1044K|c.3132T>G|5,BUFFER|p.N1044K|c.3132T>A|15,BUFFER|p.N1044K|c.3132T>A|7,BUFFER|p.D1045N|c.3133G>A|6,BUFFER|p.A1046T|c.3136G>A|6,BUFFER|p.A1046E|c.3137C>A|3,BUFFER|p.H1047Q|c.3141T>G|4,BUFFER|p.H1048R|c.3143A>G|6,BUFFER|p.H1048R|c.3143A>G|3,BUFFER|p.G1049S|c.3145G>A|16,BUFFER|p.G1049R|c.3145G>C|29,BUFFER|p.G1049R|c.3145G>C|5,BUFFER|p.G1049A|c.3146G>C|3,BUFFER|p.G1049D|c.3146G>A|4,BUFFER|p.G1049G|c.3147T>C|10,BUFFER|p.G1050S|c.3148G>A|3,BUFFER|p.G1050D|c.3149G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000263967	.	21/21	.	.	.	.	.	.	.	.	rs121913279,COSM776,COSM775,COSM249874,COSM94987,COSM94986	21/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	25710561	possibly_damaging(0.529)	.	tolerated(0.11)	0,1,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	3297	87	75	SUCCESS
TCTA	6988	.	GRCh37	3	49449740	49449740	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	8	0	ENST00000273590.3:c.-120A>C		p.*40*	ENST00000273590	NM_022171.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2796.1	.	MUTECT|MUSE	.	ACGCGAAGTAG	NONE	.	.	.	.	.	ENSP00000273590	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000273590	Transcript	.	.	ENSG00000145022	11692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCTA_HUMAN	TCTA	HGNC	.	.	UPI0000136B22	SNV	TCTA,5_prime_UTR_variant,,ENST00000273590,;RHOA,upstream_gene_variant,,ENST00000431929,;AMT,downstream_gene_variant,,ENST00000427987,;AMT,downstream_gene_variant,,ENST00000395338,;AMT,downstream_gene_variant,,ENST00000458307,;AMT,downstream_gene_variant,,ENST00000538581,;RHOA,upstream_gene_variant,,ENST00000418115,;AMT,downstream_gene_variant,,ENST00000273588,;RHOA,upstream_gene_variant,,ENST00000422781,;RHOA,upstream_gene_variant,,ENST00000454011,;RHOA,upstream_gene_variant,,ENST00000445425,;TCTA,non_coding_transcript_exon_variant,,ENST00000488385,;RHOA,intron_variant,,ENST00000265538,;TCTA,upstream_gene_variant,,ENST00000493381,;TCTA,upstream_gene_variant,,ENST00000497786,;TCTA,upstream_gene_variant,,ENST00000487432,;AMT,downstream_gene_variant,,ENST00000476226,;TCTA,upstream_gene_variant,,ENST00000482193,;AMT,downstream_gene_variant,,ENST00000465925,;	102	8	14	SUCCESS
SPCS1	28972	.	GRCh37	3	52741737	52741737	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	311	24	375	1	ENST00000602728.1:c.218A>G	p.His73Arg	p.H73R	ENST00000602728		73	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33769.2	419	MUTECT|MUSE	.	CCGGCATCCTC	NONE	.	.	hmmpanther:PTHR13202:SF0,hmmpanther:PTHR13202,Pfam_domain:PF06645	.	.	ENSP00000233025	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000233025	Transcript	.	.	ENSG00000114902	23401	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.978)	.	tolerated(0.06)	.	SPCS1_HUMAN	SPCS1	HGNC	C9JBL1_HUMAN	.	UPI0000E5A719	SNV	SPCS1,missense_variant,p.His140Arg,ENST00000233025,;SPCS1,missense_variant,p.His51Arg,ENST00000423431,;SPCS1,missense_variant,p.His73Arg,ENST00000602728,;GLT8D1,upstream_gene_variant,,ENST00000491606,;GLT8D1,upstream_gene_variant,,ENST00000497436,;GLT8D1,upstream_gene_variant,,ENST00000394783,;NEK4,downstream_gene_variant,,ENST00000233027,;GLT8D1,upstream_gene_variant,,ENST00000464705,;GLT8D1,upstream_gene_variant,,ENST00000407584,;NEK4,downstream_gene_variant,,ENST00000535191,;GLT8D1,upstream_gene_variant,,ENST00000478968,;GLT8D1,upstream_gene_variant,,ENST00000497953,;GLT8D1,upstream_gene_variant,,ENST00000489119,;GLT8D1,upstream_gene_variant,,ENST00000487642,;GLT8D1,upstream_gene_variant,,ENST00000266014,;GLT8D1,upstream_gene_variant,,ENST00000463762,;SPCS1,non_coding_transcript_exon_variant,,ENST00000474945,;SPCS1,downstream_gene_variant,,ENST00000448693,;GLT8D1,upstream_gene_variant,,ENST00000484163,;	829	377	335	SUCCESS
GRIA2	2891	.	GRCh37	4	158242731	158242731	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147349807	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	103	0	ENST00000264426.9:c.862G>T	p.Ala288Ser	p.A288S	ENST00000264426	NM_001083619.1	288	Gct/Tct	0	T:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS3797.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGCTCAC	NONE	byCluster	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	T:0.0001	ENSP00000296526	.	6/16	.	.	.	.	.	.	.	.	rs147349807	6/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.47)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ala288Ser,ENST00000264426,;GRIA2,missense_variant,p.Ala241Ser,ENST00000507898,;GRIA2,missense_variant,p.Ala241Ser,ENST00000393815,;GRIA2,missense_variant,p.Ala288Ser,ENST00000296526,;GRIA2,missense_variant,p.Ala241Ser,ENST00000449365,;GRIA2,downstream_gene_variant,,ENST00000503437,;GRIA2,missense_variant,p.Ala241Ser,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	1187	103	74	SUCCESS
SNX2	6643	.	GRCh37	5	122152993	122152993	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	76	0	ENST00000379516.2:c.931C>G	p.Gln311Glu	p.Q311E	ENST00000379516	NM_003100.3	311	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS34217.1	931	MUTECT|MUSE|VARSCANS	.	AGCAGCAGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10555:SF31,hmmpanther:PTHR10555,Pfam_domain:PF09325,Superfamily_domains:SSF103657	.	.	ENSP00000368831	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000379516	Transcript	.	.	ENSG00000205302	11173	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.174)	.	tolerated(0.06)	.	SNX2_HUMAN	SNX2	HGNC	B4DEK4_HUMAN	.	UPI0000140645	SNV	SNX2,missense_variant,p.Gln311Glu,ENST00000379516,;SNX2,missense_variant,p.Gln194Glu,ENST00000514949,;SNX2,downstream_gene_variant,,ENST00000505934,;SNX2,non_coding_transcript_exon_variant,,ENST00000506847,;SNX2,non_coding_transcript_exon_variant,,ENST00000510372,;SNX2,non_coding_transcript_exon_variant,,ENST00000509281,;SNX2,non_coding_transcript_exon_variant,,ENST00000514030,;SNX2,downstream_gene_variant,,ENST00000512394,;	1039	76	59	SUCCESS
NSUN2	54888	.	GRCh37	5	6602579	6602579	+	synonymous_variant	Silent	SNP	A	A	G	rs1038468036	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	81	0	ENST00000264670.6:c.1992T>C	p.Asp664=	p.D664=	ENST00000264670	NM_017755.5	664	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS3869.1	1992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAATCTGG	NONE	.	.	hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF1	.	.	ENSP00000264670	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000264670	Transcript	1	.	ENSG00000037474	25994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSUN2_HUMAN	NSUN2	HGNC	G3V1R4_HUMAN	.	UPI000020BF2B	SNV	NSUN2,synonymous_variant,p.%3D,ENST00000539938,;NSUN2,synonymous_variant,p.%3D,ENST00000264670,;NSUN2,synonymous_variant,p.%3D,ENST00000506139,;NSUN2,3_prime_UTR_variant,,ENST00000504374,;NSUN2,3_prime_UTR_variant,,ENST00000514127,;NSUN2,non_coding_transcript_exon_variant,,ENST00000513888,;NSUN2,non_coding_transcript_exon_variant,,ENST00000505892,;NSUN2,downstream_gene_variant,,ENST00000507888,;NSUN2,downstream_gene_variant,,ENST00000502932,;	2304	81	70	SUCCESS
CLVS2	134829	.	GRCh37	6	123319206	123319206	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	8	123	0	ENST00000275162.5:c.284G>A	p.Gly95Asp	p.G95D	ENST00000275162	NM_001010852.3	95	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS34525.1	284	MUTECT|MUSE	.	CCCTGGCATCA	NONE	.	.	hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF73,Gene3D:3.40.525.10	.	.	ENSP00000275162	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000275162	Transcript	.	.	ENSG00000146352	23046	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.04)	.	tolerated(0.2)	.	CLVS2_HUMAN	CLVS2	HGNC	.	.	UPI000013DA49	SNV	CLVS2,missense_variant,p.Gly95Asp,ENST00000275162,;CLVS2,intron_variant,,ENST00000368438,;	1619	123	119	SUCCESS
ABCA13	154664	.	GRCh37	7	48273680	48273680	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	105	0	ENST00000435803.1:c.829A>T	p.Lys277Ter	p.K277*	ENST00000435803	NM_152701.3	277	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS47584.1	829	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCAAATCC	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	8/62	.	.	.	.	.	.	.	.	.	8/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,stop_gained,p.Lys277Ter,ENST00000435803,;ABCA13,stop_gained,p.Lys277Ter,ENST00000417403,;	853	105	72	SUCCESS
TNKS	8658	.	GRCh37	8	9578010	9578010	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	30	123	1	ENST00000310430.6:c.1876A>G	p.Thr626Ala	p.T626A	ENST00000310430	NM_003747.2	626	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS5974.1	1876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCACAGCA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24180:SF3,hmmpanther:PTHR24180,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000311579	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000310430	Transcript	.	.	ENSG00000173273	11941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.07)	.	TNKS1_HUMAN	TNKS	HGNC	Q59FX0_HUMAN,E7EQ52_HUMAN	.	UPI000013F00D	SNV	TNKS,missense_variant,p.Thr389Ala,ENST00000518281,;TNKS,missense_variant,p.Thr626Ala,ENST00000310430,;TNKS,non_coding_transcript_exon_variant,,ENST00000519930,;	1902	124	113	SUCCESS
KIAA1210	57481	.	GRCh37	X	118281508	118281508	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781323631	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	52	0	ENST00000402510.2:c.338A>G	p.Asp113Gly	p.D113G	ENST00000402510	NM_020721.1	113	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS48156.1	338	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATCCCCA	NONE	byFrequency	.	.	.	.	ENSP00000384670	.	2/14	.	.	.	.	.	.	.	.	rs781323631	2/14	PASS	ENST00000402510	Transcript	.	.	ENSG00000250423	29218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.27)	.	K1210_HUMAN	KIAA1210	HGNC	.	.	UPI0001596C4C	SNV	KIAA1210,missense_variant,p.Asp113Gly,ENST00000402510,;	338	52	56	SUCCESS
PAX2	5076	.	GRCh37	10	102584502	102584502	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	20	0	ENST00000428433.1:c.1086G>A	p.Val362=	p.V362=	ENST00000428433	NM_003987.3	362	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS53569.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGCCTGG	NONE	.	.	Pfam_domain:PF12403,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172	.	.	ENSP00000396259	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000428433	Transcript	1	.	ENSG00000075891	8616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAX2_HUMAN	PAX2	HGNC	Q5SZP1_HUMAN	.	UPI00001AEA24	SNV	PAX2,synonymous_variant,p.%3D,ENST00000361791,;PAX2,synonymous_variant,p.%3D,ENST00000355243,;PAX2,synonymous_variant,p.%3D,ENST00000556085,;PAX2,synonymous_variant,p.%3D,ENST00000370296,;PAX2,synonymous_variant,p.%3D,ENST00000428433,;	1636	20	20	SUCCESS
PDZD7	79955	.	GRCh37	10	102782138	102782138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	34	1	ENST00000370215.3:c.547G>T	p.Asp183Tyr	p.D183Y	ENST00000370215	NM_024895.4	183	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31269.1	547	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACATCCACCC	NONE	.	.	hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF30	.	.	ENSP00000359234	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000370215	Transcript	1	.	ENSG00000186862	26257	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDZD7_HUMAN	PDZD7	HGNC	S4R3X4_HUMAN	.	UPI0000072FD2	SNV	PDZD7,missense_variant,p.Asp183Tyr,ENST00000370215,;PDZD7,downstream_gene_variant,,ENST00000470414,;PDZD7,upstream_gene_variant,,ENST00000433616,;PDZD7,3_prime_UTR_variant,,ENST00000474125,;PDZD7,downstream_gene_variant,,ENST00000476306,;	773	35	24	SUCCESS
SORCS1	114815	.	GRCh37	10	108459041	108459041	+	synonymous_variant	Silent	SNP	G	G	A	rs1564872118	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	85	0	ENST00000263054.6:c.1344C>T	p.Phe448=	p.F448=	ENST00000263054	NM_001206570.1	448	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS31283.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTGAAGTA	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296	.	.	ENSP00000345964	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,synonymous_variant,p.%3D,ENST00000263054,;SORCS1,synonymous_variant,p.%3D,ENST00000344440,;SORCS1,5_prime_UTR_variant,,ENST00000369698,;	1344	85	48	SUCCESS
FRMD4A	55691	.	GRCh37	10	13699408	13699408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	17	0	ENST00000357447.2:c.2181C>A	p.Ser727Arg	p.S727R	ENST00000357447	NM_018027.3	727	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS7101.1	2181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGGCTCCC	NONE	.	.	hmmpanther:PTHR23281:SF12,hmmpanther:PTHR23281	.	.	ENSP00000350032	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000357447	Transcript	.	.	ENSG00000151474	25491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.29)	.	FRM4A_HUMAN	FRMD4A	HGNC	F8WAN4_HUMAN	.	UPI0000366665	SNV	FRMD4A,missense_variant,p.Ser727Arg,ENST00000357447,;FRMD4A,missense_variant,p.Ser712Arg,ENST00000358621,;FRMD4A,missense_variant,p.Ser727Arg,ENST00000378503,;RP11-295P9.3,downstream_gene_variant,,ENST00000601460,;RP11-295P9.3,intron_variant,,ENST00000593351,;RP11-295P9.3,downstream_gene_variant,,ENST00000599639,;FRMD4A,upstream_gene_variant,,ENST00000475325,;RP11-295P9.3,downstream_gene_variant,,ENST00000600511,;RP11-295P9.3,downstream_gene_variant,,ENST00000600249,;RP11-295P9.3,downstream_gene_variant,,ENST00000593358,;FRMD4A,upstream_gene_variant,,ENST00000495956,;RP11-295P9.3,downstream_gene_variant,,ENST00000601758,;RP11-295P9.3,downstream_gene_variant,,ENST00000596499,;RP11-295P9.3,downstream_gene_variant,,ENST00000596235,;RP11-295P9.3,downstream_gene_variant,,ENST00000430721,;RP11-295P9.3,downstream_gene_variant,,ENST00000594575,;RP11-295P9.3,downstream_gene_variant,,ENST00000419851,;RP11-295P9.3,downstream_gene_variant,,ENST00000597920,;RP11-295P9.3,downstream_gene_variant,,ENST00000598625,;	2550	17	22	SUCCESS
CUBN	8029	.	GRCh37	10	16870834	16870834	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	49	1	ENST00000377833.4:c.10734C>A	p.Ser3578Arg	p.S3578R	ENST00000377833	NM_001081.3	3578	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS7113.1	10734	RADIA|MUTECT	.	GGAGAGCTGGC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	66/67	.	.	.	.	.	.	.	.	.	66/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.033)	.	tolerated(0.1)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ser3578Arg,ENST00000377833,;	10800	50	41	SUCCESS
TRDMT1	1787	.	GRCh37	10	17202313	17202313	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	33	174	0	ENST00000377799.3:c.450T>C	p.Ser150=	p.S150=	ENST00000377799	NM_004412.5	150	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7114.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGAGATAA	NONE	.	.	PROSITE_profiles:PS51679,hmmpanther:PTHR10629,Gene3D:3.40.50.150,Pfam_domain:PF00145,TIGRFAM_domain:TIGR00675,Superfamily_domains:SSF53335	.	.	ENSP00000367030	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000377799	Transcript	.	.	ENSG00000107614	2977	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRDMT_HUMAN	TRDMT1	HGNC	Q6ICS7_HUMAN	.	UPI0000129698	SNV	TRDMT1,missense_variant,p.Ser58Pro,ENST00000436968,;TRDMT1,missense_variant,p.Ser79Pro,ENST00000377766,;TRDMT1,synonymous_variant,p.%3D,ENST00000457442,;TRDMT1,synonymous_variant,p.%3D,ENST00000313936,;TRDMT1,synonymous_variant,p.%3D,ENST00000377799,;TRDMT1,synonymous_variant,p.%3D,ENST00000412821,;TRDMT1,synonymous_variant,p.%3D,ENST00000525762,;TRDMT1,synonymous_variant,p.%3D,ENST00000351358,;TRDMT1,3_prime_UTR_variant,,ENST00000358282,;TRDMT1,intron_variant,,ENST00000488990,;TRDMT1,non_coding_transcript_exon_variant,,ENST00000452380,;TRDMT1,3_prime_UTR_variant,,ENST00000354631,;TRDMT1,3_prime_UTR_variant,,ENST00000424636,;TRDMT1,3_prime_UTR_variant,,ENST00000495022,;	498	174	110	SUCCESS
MYO3A	53904	.	GRCh37	10	26462717	26462717	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	71	0	ENST00000265944.5:c.3525del	p.Thr1176ProfsTer17	p.T1176Pfs*17	ENST00000265944	NM_017433.4	1175	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS7148.1	3524	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGAAACCACCA	NONE	.	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	deletion	MYO3A,frameshift_variant,p.Thr1176ProfsTer17,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000477691,;	3690	71	78	SUCCESS
DIP2C	22982	.	GRCh37	10	375432	375432	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	28	0	ENST00000280886.6:c.3694T>C	p.Ser1232Pro	p.S1232P	ENST00000280886	NM_014974.2	1232	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS7054.1	3694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGAGCAAA	NONE	.	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000280886	.	30/37	.	.	.	.	.	.	.	.	.	30/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,missense_variant,p.Ser1232Pro,ENST00000280886,;DIP2C,missense_variant,p.Ser13Pro,ENST00000434695,;	3782	28	16	SUCCESS
PCDH15	65217	.	GRCh37	10	55568699	55568699	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	48	150	0	ENST00000395440.1:c.1913C>A	p.Ala638Asp	p.A638D	ENST00000395440		638	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	.	.	1913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGCTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027	.	.	ENSP00000378827	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000395440	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	PCDH15	HGNC	A2A3E5_HUMAN,A2A3D9_HUMAN	.	UPI0000EE0486	SNV	PCDH15,missense_variant,p.Ala638Asp,ENST00000395440,;PCDH15,missense_variant,p.Ala1704Asp,ENST00000395445,;PCDH15,missense_variant,p.Ala569Asp,ENST00000395442,;PCDH15,missense_variant,p.Ala900Asp,ENST00000395446,;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	2308	150	98	SUCCESS
FAM13C	220965	.	GRCh37	10	61028335	61028335	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	84	0	ENST00000373868.2:c.920T>C	p.Phe307Ser	p.F307S	ENST00000373868	NM_198215.3	307	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS7255.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCAAATTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	.	.	ENSP00000362975	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000373868	Transcript	.	.	ENSG00000148541	19371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA13C_HUMAN	FAM13C	HGNC	D6RIX4_HUMAN	.	UPI00001AEA18	SNV	FAM13C,missense_variant,p.Phe85Ser,ENST00000468696,;FAM13C,missense_variant,p.Phe307Ser,ENST00000419214,;FAM13C,missense_variant,p.Phe307Ser,ENST00000422313,;FAM13C,missense_variant,p.Phe224Ser,ENST00000468840,;FAM13C,missense_variant,p.Phe307Ser,ENST00000373868,;FAM13C,missense_variant,p.Phe328Ser,ENST00000277705,;FAM13C,missense_variant,p.Phe328Ser,ENST00000442566,;FAM13C,missense_variant,p.Phe307Ser,ENST00000435852,;FAM13C,missense_variant,p.Phe224Ser,ENST00000373867,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,downstream_gene_variant,,ENST00000477101,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,downstream_gene_variant,,ENST00000513377,;FAM13C,downstream_gene_variant,,ENST00000507568,;	1008	84	61	SUCCESS
ECD	11319	.	GRCh37	10	74912126	74912126	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	41	0	ENST00000372979.4:c.837A>C	p.Pro279=	p.P279=	ENST00000372979	NM_007265.2	279	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS44434.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCTGGCAC	NONE	.	.	hmmpanther:PTHR13060,Pfam_domain:PF07093	.	.	ENSP00000401566	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000430082	Transcript	.	.	ENSG00000122882	17029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGT1_HUMAN	ECD	HGNC	C9J316_HUMAN	.	UPI000181CB29	SNV	ECD,synonymous_variant,p.%3D,ENST00000453402,;ECD,synonymous_variant,p.%3D,ENST00000430082,;ECD,synonymous_variant,p.%3D,ENST00000372979,;ECD,intron_variant,,ENST00000454759,;ECD,downstream_gene_variant,,ENST00000413026,;ECD,downstream_gene_variant,,ENST00000610256,;ECD,missense_variant,p.Gln141Pro,ENST00000484976,;	1049	41	41	SUCCESS
C10orf11	0	.	GRCh37	10	77795792	77795792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	49	1	ENST00000372499.1:c.74G>A	p.Arg25Lys	p.R25K	ENST00000372499	NM_032024.3	25	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS7351.1	74	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGGAGCC	NONE	.	.	Superfamily_domains:SSF52058,Pfam_domain:PF14580,Gene3D:3.80.10.10,hmmpanther:PTHR10552	.	.	ENSP00000361577	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000372499	Transcript	1	.	ENSG00000148655	23405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.96)	.	CJ011_HUMAN	C10orf11	HGNC	.	.	UPI000006D28F	SNV	C10orf11,missense_variant,p.Arg25Lys,ENST00000372499,;C10orf11,non_coding_transcript_exon_variant,,ENST00000593699,;C10orf11,non_coding_transcript_exon_variant,,ENST00000593817,;	289	50	30	SUCCESS
TUBB8	347688	.	GRCh37	10	93136	93136	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	39	2	ENST00000309812.4:c.1196C>G	p.Thr399Arg	p.T399R	ENST00000309812	NM_177987.2	399	aCg/aGg	0	.	.	.	.	.	C	T/R	protein_coding	YES	CCDS7051.1	1196	SOMATICSNIPER|VARSCANS	.	CGCCCGTGTAC	NONE	.	.	Superfamily_domains:SSF55307,Gene3D:1.10.287.600,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	4/4	.	.	.	.	.	.	.	.	COSM1969276	4/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	1	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,missense_variant,p.Thr327Arg,ENST00000447903,;TUBB8,missense_variant,p.Thr399Arg,ENST00000309812,;TUBB8,downstream_gene_variant,,ENST00000332708,;TUBB8,downstream_gene_variant,,ENST00000413237,;TUBB8,downstream_gene_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	1259	41	50	SUCCESS
IFT46	56912	.	GRCh37	11	118422512	118422512	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	36	0	ENST00000264021.3:c.661C>A	p.Leu221Ile	p.L221I	ENST00000264021	NM_001168618.1	221	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS8399.1	814	RADIA|VARSCANS	.	CAAAAGCTCTT	NONE	.	.	hmmpanther:PTHR13376,hmmpanther:PTHR13376:SF0,Pfam_domain:PF12317	.	.	ENSP00000264020	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000264020	Transcript	.	.	ENSG00000118096	26146	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.853)	.	tolerated(0.13)	.	IFT46_HUMAN	IFT46	HGNC	E9PMR8_HUMAN	.	UPI000013D4A3	SNV	IFT46,missense_variant,p.Leu272Ile,ENST00000530872,;IFT46,missense_variant,p.Leu221Ile,ENST00000264021,;IFT46,missense_variant,p.Leu272Ile,ENST00000264020,;IFT46,downstream_gene_variant,,ENST00000531939,;IFT46,downstream_gene_variant,,ENST00000534156,;IFT46,downstream_gene_variant,,ENST00000534114,;TMEM25,downstream_gene_variant,,ENST00000442938,;IFT46,downstream_gene_variant,,ENST00000528378,;IFT46,non_coding_transcript_exon_variant,,ENST00000531201,;IFT46,non_coding_transcript_exon_variant,,ENST00000525060,;	1192	36	32	SUCCESS
OR4C46	119749	.	GRCh37	11	51515655	51515655	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	34	94	0	ENST00000328188.1:c.374G>T	p.Cys125Phe	p.C125F	ENST00000328188	NM_001004703.1	125	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS31498.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTGCAAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF284,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000329056	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328188	Transcript	.	.	ENSG00000185926	31271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	deleterious_low_confidence(0)	.	O4C46_HUMAN	OR4C46	HGNC	.	.	UPI000013F6F8	SNV	OR4C46,missense_variant,p.Cys125Phe,ENST00000328188,;	374	94	65	SUCCESS
TNKS1BP1	85456	.	GRCh37	11	57080487	57080489	+	inframe_deletion	In_Frame_Del	DEL	CCC	CCC	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	CCC	CCC	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	63	0	ENST00000358252.3:c.1673_1675del	p.Gly558del	p.G558del	ENST00000358252	NM_033396.2	558	gGGGag/gag	0	.	.	.	.	.	-	GE/E	protein_coding	YES	CCDS7951.1	1673-1675	INDELOCATOR*|VARSCANI*|PINDEL	.	GACTCTCCCCATCG	NONE	.	.	hmmpanther:PTHR22042:SF2,hmmpanther:PTHR22042	.	.	ENSP00000437271	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000532437	Transcript	.	.	ENSG00000149115	19081	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TB182_HUMAN	TNKS1BP1	HGNC	E9PKK0_HUMAN,E9PKE7_HUMAN	.	UPI000013DB72	deletion	TNKS1BP1,inframe_deletion,p.Gly558del,ENST00000532437,;TNKS1BP1,inframe_deletion,p.Gly558del,ENST00000358252,;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	1985-1987	63	39	SUCCESS
TRIM22	10346	.	GRCh37	11	5717433	5717433	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	36	0	ENST00000379965.3:c.-30A>C		p.*10*	ENST00000379965	NM_001199573.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41612.1	.	MUTECT|MUSE	.	GAGTCAAGACA	NONE	.	.	.	.	.	ENSP00000369299	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000379965	Transcript	.	.	ENSG00000132274	16379	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI22_HUMAN	TRIM22	HGNC	C9JIU5_HUMAN,C9J060_HUMAN	.	UPI0000074222	SNV	TRIM22,5_prime_UTR_variant,,ENST00000414641,;TRIM22,5_prime_UTR_variant,,ENST00000425490,;TRIM22,5_prime_UTR_variant,,ENST00000454828,;TRIM22,5_prime_UTR_variant,,ENST00000379965,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,non_coding_transcript_exon_variant,,ENST00000460454,;TRIM22,upstream_gene_variant,,ENST00000480395,;TRIM22,upstream_gene_variant,,ENST00000414897,;	248	36	22	SUCCESS
INPPL1	3636	.	GRCh37	11	71943737	71943737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	36	1	ENST00000298229.2:c.1780G>T	p.Asp594Tyr	p.D594Y	ENST00000298229	NM_001567.3	594	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8213.1	1780	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGACATC	NONE	.	.	Superfamily_domains:SSF56219,SMART_domains:SM00128,Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200:SF15,hmmpanther:PTHR11200	.	.	ENSP00000298229	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000298229	Transcript	.	.	ENSG00000165458	6080	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SHIP2_HUMAN	INPPL1	HGNC	H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN	.	UPI000013E4AF	SNV	INPPL1,missense_variant,p.Asp352Tyr,ENST00000538751,;INPPL1,missense_variant,p.Asp594Tyr,ENST00000298229,;INPPL1,missense_variant,p.Asp352Tyr,ENST00000541756,;INPPL1,upstream_gene_variant,,ENST00000541752,;INPPL1,downstream_gene_variant,,ENST00000540329,;INPPL1,upstream_gene_variant,,ENST00000320683,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,non_coding_transcript_exon_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000538339,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,downstream_gene_variant,,ENST00000537755,;INPPL1,downstream_gene_variant,,ENST00000544806,;INPPL1,upstream_gene_variant,,ENST00000545355,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000542295,;	1984	37	35	SUCCESS
ACTR6	64431	.	GRCh37	12	100594687	100594687	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	39	0	ENST00000188312.2:c.58G>A	p.Glu20Lys	p.E20K	ENST00000188312	NM_022496.4	20	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9074.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATGAAAAT	NONE	.	.	hmmpanther:PTHR11937:SF21,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000188312	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000188312	Transcript	.	.	ENSG00000075089	24025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.12)	.	ARP6_HUMAN	ACTR6	HGNC	Q7Z4D2_HUMAN,G3V1Y1_HUMAN	.	UPI0000044716	SNV	ACTR6,missense_variant,p.Glu20Lys,ENST00000188312,;ACTR6,missense_variant,p.Glu20Lys,ENST00000552376,;ACTR6,5_prime_UTR_variant,,ENST00000551617,;ACTR6,5_prime_UTR_variant,,ENST00000546902,;ACTR6,intron_variant,,ENST00000551652,;ACTR6,non_coding_transcript_exon_variant,,ENST00000550813,;RP11-175P13.3,upstream_gene_variant,,ENST00000548404,;RP11-175P13.3,upstream_gene_variant,,ENST00000550096,;ACTR6,missense_variant,p.Glu20Lys,ENST00000553038,;ACTR6,missense_variant,p.Glu20Lys,ENST00000552064,;ACTR6,missense_variant,p.Glu20Lys,ENST00000547458,;ACTR6,missense_variant,p.Glu20Lys,ENST00000548180,;ACTR6,non_coding_transcript_exon_variant,,ENST00000551517,;ACTR6,non_coding_transcript_exon_variant,,ENST00000551440,;ACTR6,non_coding_transcript_exon_variant,,ENST00000549977,;DEPDC4,downstream_gene_variant,,ENST00000378244,;RP11-175P13.3,upstream_gene_variant,,ENST00000548782,;	823	39	38	SUCCESS
SH2B3	10019	.	GRCh37	12	111885820	111885820	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	43	0	ENST00000341259.2:c.1442T>C	p.Leu481Pro	p.L481P	ENST00000341259	NM_005475.2	481	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9153.1	1442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTTCCTC	NONE	.	.	hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF1	.	.	ENSP00000345492	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000341259	Transcript	.	.	ENSG00000111252	29605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	SH2B3_HUMAN	SH2B3	HGNC	.	.	UPI000012E798	SNV	SH2B3,missense_variant,p.Leu481Pro,ENST00000341259,;SH2B3,missense_variant,p.Leu279Pro,ENST00000538307,;ATXN2,downstream_gene_variant,,ENST00000542287,;ATXN2,downstream_gene_variant,,ENST00000535949,;ATXN2,downstream_gene_variant,,ENST00000389154,;ATXN2,downstream_gene_variant,,ENST00000389153,;SH2B3,downstream_gene_variant,,ENST00000550925,;ATXN2,downstream_gene_variant,,ENST00000608853,;ATXN2,downstream_gene_variant,,ENST00000550104,;ATXN2,downstream_gene_variant,,ENST00000377617,;ATXN2,downstream_gene_variant,,ENST00000484991,;ATXN2,downstream_gene_variant,,ENST00000483311,;ATXN2,downstream_gene_variant,,ENST00000482777,;	1799	43	29	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834213	125834213	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781583695	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	48	0	ENST00000299308.3:c.268C>T	p.Pro90Ser	p.P90S	ENST00000299308	NM_052907.2	90	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS41859.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCCATTT	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	rs781583695	2/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Pro90Ser,ENST00000299308,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535330,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	276	48	63	SUCCESS
RP13-977J11.5	0	.	GRCh37	12	132611150	132611150	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	52	0	ENST00000540993.1:n.160G>C		p.*54*	ENST00000540993				0	.	.	.	.	.	G	.	processed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGACGCTTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000540993	Transcript	.	.	ENSG00000256804	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP13-977J11.5	Clone_based_vega_gene	.	.	.	SNV	EP400NL,downstream_gene_variant,,ENST00000376625,;EP400NL,downstream_gene_variant,,ENST00000361109,;EP400NL,non_coding_transcript_exon_variant,,ENST00000475841,;EP400NL,downstream_gene_variant,,ENST00000488030,;EP400NL,downstream_gene_variant,,ENST00000332441,;EP400NL,downstream_gene_variant,,ENST00000446190,;RP13-977J11.5,non_coding_transcript_exon_variant,,ENST00000540993,;	160	52	49	SUCCESS
SLCO1C1	53919	.	GRCh37	12	20893142	20893145	+	frameshift_variant	Frame_Shift_Del	DEL	GGAA	GGAA	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	GGAA	GGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	99	0	ENST00000266509.2:c.1573_1576del	p.Gly525LeufsTer12	p.G525Lfs*12	ENST00000266509	NM_017435.4	525	GGAAtt/tt	0	.	.	.	.	.	-	GI/X	protein_coding	YES	CCDS53757.1	1573-1576	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGTGGGAATTGCA	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF18,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137	.	.	ENSP00000370964	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000381552	Transcript	.	.	ENSG00000139155	13819	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SO1C1_HUMAN	SLCO1C1	HGNC	.	.	UPI00004C3E1B	deletion	SLCO1C1,frameshift_variant,p.Gly525LeufsTer12,ENST00000381552,;SLCO1C1,frameshift_variant,p.Gly525LeufsTer12,ENST00000545604,;SLCO1C1,frameshift_variant,p.Gly407LeufsTer12,ENST00000545102,;SLCO1C1,frameshift_variant,p.Gly525LeufsTer12,ENST00000266509,;SLCO1C1,frameshift_variant,p.Gly476LeufsTer12,ENST00000540354,;SLCO1C1,3_prime_UTR_variant,,ENST00000539415,;	1941-1944	99	77	SUCCESS
PPFIBP1	8496	.	GRCh37	12	27787982	27787982	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	73	0	ENST00000318304.8:c.204A>T	p.Glu68Asp	p.E68D	ENST00000318304	NM_177444.2	68	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS55812.1	204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGGCTT	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16	.	.	ENSP00000314724	.	4/29	.	.	.	.	.	.	.	.	.	4/29	PASS	ENST00000318304	Transcript	.	.	ENSG00000110841	9249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.27)	.	LIPB1_HUMAN	PPFIBP1	HGNC	F5H6Q7_HUMAN	.	UPI00004565E6	SNV	PPFIBP1,missense_variant,p.Glu81Asp,ENST00000542187,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000535047,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000542629,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000228425,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000318304,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000535575,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000545334,;PPFIBP1,intron_variant,,ENST00000538433,;PPFIBP1,intron_variant,,ENST00000540114,;PPFIBP1,intron_variant,,ENST00000537927,;PPFIBP1,missense_variant,p.Glu68Asp,ENST00000545381,;	487	73	84	SUCCESS
IPO8	10526	.	GRCh37	12	30816503	30816503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	44	0	ENST00000256079.4:c.1514G>T	p.Ser505Ile	p.S505I	ENST00000256079	NM_006390.3	505	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS8719.1	1514	RADIA|VARSCANS	.	TCAGGCTCTTC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997:SF26,hmmpanther:PTHR10997	.	.	ENSP00000256079	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000256079	Transcript	.	.	ENSG00000133704	9853	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.067)	.	deleterious(0.02)	.	IPO8_HUMAN	IPO8	HGNC	F5H009_HUMAN,F5GXT5_HUMAN	.	UPI000013CEE9	SNV	IPO8,missense_variant,p.Ser505Ile,ENST00000256079,;IPO8,missense_variant,p.Ser300Ile,ENST00000544829,;	1853	44	39	SUCCESS
IPO8	10526	.	GRCh37	12	30816574	30816574	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	22	0	ENST00000256079.4:c.1443T>G	p.Leu481=	p.L481=	ENST00000256079	NM_006390.3	481	ctT/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS8719.1	1443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGAAGTAC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997:SF26,hmmpanther:PTHR10997	.	.	ENSP00000256079	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000256079	Transcript	.	.	ENSG00000133704	9853	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO8_HUMAN	IPO8	HGNC	F5H009_HUMAN,F5GXT5_HUMAN	.	UPI000013CEE9	SNV	IPO8,synonymous_variant,p.%3D,ENST00000256079,;IPO8,synonymous_variant,p.%3D,ENST00000544829,;	1782	22	25	SUCCESS
XPOT	11260	.	GRCh37	12	64814173	64814173	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	74	0	ENST00000332707.5:c.715C>A	p.Leu239Ile	p.L239I	ENST00000332707	NM_007235.4	239	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS31852.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCTACGG	NONE	.	.	hmmpanther:PTHR15952,Pfam_domain:PF08389,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000327821	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000332707	Transcript	.	.	ENSG00000184575	12826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	tolerated(0.15)	.	XPOT_HUMAN	XPOT	HGNC	F8WDU6_HUMAN,F5GYW6_HUMAN	.	UPI0000161BA5	SNV	XPOT,missense_variant,p.Leu239Ile,ENST00000332707,;XPOT,upstream_gene_variant,,ENST00000538086,;XPOT,downstream_gene_variant,,ENST00000400935,;XPOT,downstream_gene_variant,,ENST00000540203,;XPOT,upstream_gene_variant,,ENST00000542958,;	1244	74	68	SUCCESS
SLC6A15	55117	.	GRCh37	12	85277689	85277689	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	56	0	ENST00000266682.5:c.705C>A	p.Ala235=	p.A235=	ENST00000266682	NM_182767.5	235	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS9026.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000266682	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,synonymous_variant,p.%3D,ENST00000552192,;SLC6A15,synonymous_variant,p.%3D,ENST00000450363,;SLC6A15,synonymous_variant,p.%3D,ENST00000266682,;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,downstream_gene_variant,,ENST00000547240,;	1247	56	46	SUCCESS
A2ML1	144568	.	GRCh37	12	8994020	8994020	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	66	2	ENST00000299698.7:c.1136T>A	p.Val379Glu	p.V379E	ENST00000299698	NM_144670.4	379	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS8596.2	1136	SOMATICSNIPER|VARSCANS	.	TCTGGTGATTT	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412	.	.	ENSP00000299698	.	11/36	.	.	.	.	.	.	.	.	.	11/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.643)	.	deleterious(0)	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,missense_variant,p.Val379Glu,ENST00000299698,;A2ML1,upstream_gene_variant,,ENST00000545692,;A2ML1,upstream_gene_variant,,ENST00000541459,;A2ML1,upstream_gene_variant,,ENST00000536789,;A2ML1,upstream_gene_variant,,ENST00000539547,;A2ML1,upstream_gene_variant,,ENST00000540049,;	1316	68	65	SUCCESS
GPC5	2262	.	GRCh37	13	92797096	92797096	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	73	1	ENST00000377067.3:c.1415G>T	p.Arg472Ile	p.R472I	ENST00000377067	NM_004466.4	472	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS9468.1	1415	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTAGATCAC	NONE	.	.	hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF12,Pfam_domain:PF01153	.	.	ENSP00000366267	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000377067	Transcript	.	.	ENSG00000179399	4453	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.043)	.	tolerated(0.05)	.	GPC5_HUMAN	GPC5	HGNC	.	.	UPI0000001C85	SNV	GPC5,missense_variant,p.Arg472Ile,ENST00000377067,;	1787	74	55	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102446826	102446826	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	48	0	ENST00000360184.4:c.900T>G	p.Thr300=	p.T300=	ENST00000360184	NM_001376.4	300	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9966.1	900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTCTGGA	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000348965	.	5/78	.	.	.	.	.	.	.	.	.	5/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;	1064	48	26	SUCCESS
PLD4	122618	.	GRCh37	14	105398614	105398614	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1456619635	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	36	0	ENST00000392593.4:c.1243G>T	p.Val415Leu	p.V415L	ENST00000392593	NM_138790.2	415	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS9995.2	1243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGGTGGGG	NONE	.	.	hmmpanther:PTHR10185:SF8,hmmpanther:PTHR10185,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000376372	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000392593	Transcript	.	.	ENSG00000166428	23792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.07)	.	PLD4_HUMAN	PLD4	HGNC	G3V472_HUMAN	.	UPI0000374BC9	SNV	PLD4,missense_variant,p.Val422Leu,ENST00000540372,;PLD4,missense_variant,p.Val415Leu,ENST00000392593,;PLD4,5_prime_UTR_variant,,ENST00000553861,;AHNAK2,downstream_gene_variant,,ENST00000557457,;PLD4,downstream_gene_variant,,ENST00000557573,;PLD4,downstream_gene_variant,,ENST00000472702,;AHNAK2,downstream_gene_variant,,ENST00000555122,;PLD4,downstream_gene_variant,,ENST00000472901,;	1411	36	31	SUCCESS
IGHV4-31	28396	.	GRCh37	14	106805517	106805517	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	rs531916541	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	140	0	ENST00000438142.2:c.47-1G>C		p.X16_splice	ENST00000438142		16		0	.	T:0.0008	.	T:0	.	G	.	IG_V_gene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCTGTGA	NONE	by1000G	.	.	T:0	.	ENSP00000395656	T:0	.	.	.	.	.	.	.	.	.	rs531916541	.	PASS	ENST00000438142	Transcript	.	T:0.0002	ENSG00000231475	5649	.	.	HIGH	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	IGHV4-31	HGNC	.	.	UPI000011AAD2	SNV	IGHV4-31,splice_acceptor_variant,,ENST00000438142,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;	.	140	103	SUCCESS
MYH7	4625	.	GRCh37	14	23902875	23902875	+	synonymous_variant	Silent	SNP	G	G	T	rs730880828	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	46	0	ENST00000355349.3:c.67C>A	p.Arg23=	p.R23=	ENST00000355349	NM_000257.2	23	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9601.1	67	RADIA|VARSCANS	uncertain_significance	TAGCCGCTCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140	.	.	ENSP00000347507	.	3/40	.	.	.	.	.	.	.	.	rs730880828,COSM954789	3/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	0,1	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,synonymous_variant,p.%3D,ENST00000355349,;	230	46	37	SUCCESS
SYNE2	23224	.	GRCh37	14	64593080	64593089	+	frameshift_variant	Frame_Shift_Del	DEL	TAAAAAATTG	TAAAAAATTG	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	TAAAAAATTG	TAAAAAATTG	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	63	0	ENST00000344113.4:c.13591_13600del	p.Lys4531LeufsTer5	p.K4531Lfs*5	ENST00000344113	NM_015180.4	4530	gaTAAAAAATTG/ga	0	.	.	.	.	.	-	DKKL/X	protein_coding	YES	CCDS9761.2	13590-13599	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGGATAAAAAATTGTTTGA	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	72/116	.	.	.	.	.	.	.	.	.	72/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	deletion	SYNE2,frameshift_variant,p.Lys4482LeufsTer5,ENST00000554584,;SYNE2,frameshift_variant,p.Lys916LeufsTer5,ENST00000394768,;SYNE2,frameshift_variant,p.Lys4531LeufsTer5,ENST00000344113,;SYNE2,frameshift_variant,p.Lys916LeufsTer5,ENST00000357395,;SYNE2,frameshift_variant,p.Lys4531LeufsTer5,ENST00000358025,;SYNE2,frameshift_variant,p.Lys1165LeufsTer5,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,downstream_gene_variant,,ENST00000553455,;	13820-13829	63	63	SUCCESS
RYR3	6263	.	GRCh37	15	33895514	33895514	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs552872767	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	27	92	0	ENST00000389232.4:c.2113G>T	p.Val705Phe	p.V705F	ENST00000389232	NM_001036.3	705	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS45210.1	2113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGTTGGT	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00795,Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000373884	.	18/104	.	.	.	.	.	.	.	.	rs552872767	18/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Val705Phe,ENST00000389232,;RYR3,missense_variant,p.Val705Phe,ENST00000415757,;	2183	92	38	SUCCESS
MAP2K1	5604	.	GRCh37	15	66729188	66729188	+	synonymous_variant	Silent	SNP	G	G	A	rs139364105	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	35	0	ENST00000307102.5:c.396G>A	p.Ala132=	p.A132=	ENST00000307102	NM_002755.3	132	gcG/gcA	0	.	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS10216.1	396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCGTTCTA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	A:0	.	ENSP00000302486	A:0	3/11	.	.	.	.	.	.	.	.	rs139364105	3/11	PASS	ENST00000307102	Transcript	1	A:0.0002	ENSG00000169032	6840	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MP2K1_HUMAN	MAP2K1	HGNC	A4QPA9_HUMAN	.	UPI000013EBC9	SNV	MAP2K1,synonymous_variant,p.%3D,ENST00000307102,;MAP2K1,non_coding_transcript_exon_variant,,ENST00000425818,;	927	35	25	SUCCESS
ARNT2	9915	.	GRCh37	15	80762629	80762629	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	46	0	ENST00000303329.4:c.265A>G	p.Met89Val	p.M89V	ENST00000303329	NM_014862.3	89	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS32307.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACATGGTC	NONE	.	.	Prints_domain:PR00785,Superfamily_domains:SSF47459,SMART_domains:SM00353,Gene3D:4.10.280.10,Pfam_domain:PF00010,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6,PROSITE_profiles:PS50888	.	.	ENSP00000307479	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000303329	Transcript	1	.	ENSG00000172379	16876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	deleterious(0)	.	ARNT2_HUMAN	ARNT2	HGNC	H0YKW1_HUMAN	.	UPI00001FEA05	SNV	ARNT2,missense_variant,p.Met89Val,ENST00000303329,;ARNT2,missense_variant,p.Met78Val,ENST00000533983,;ARNT2,missense_variant,p.Met78Val,ENST00000527771,;ARNT2,intron_variant,,ENST00000525103,;ARNT2,non_coding_transcript_exon_variant,,ENST00000531595,;ARNT2,non_coding_transcript_exon_variant,,ENST00000529181,;	430	46	19	SUCCESS
ERN2	10595	.	GRCh37	16	23722332	23722332	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	62	0	ENST00000256797.4:c.245C>A	p.Thr82Asn	p.T82N	ENST00000256797	NM_033266.3	82	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS32407.1	245	MUTECT|MUSE	.	TGAGAGTATGA	NONE	.	.	hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Gene3D:2.140.10.10,SMART_domains:SM00564	.	.	ENSP00000256797	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.299)	.	deleterious_low_confidence(0.01)	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Thr34Asn,ENST00000457008,;ERN2,missense_variant,p.Thr82Asn,ENST00000256797,;CTD-2385L22.1,upstream_gene_variant,,ENST00000563611,;ERN2,missense_variant,p.Leu62Ile,ENST00000569903,;ERN2,missense_variant,p.Thr34Asn,ENST00000562562,;ERN2,upstream_gene_variant,,ENST00000561478,;ERN2,upstream_gene_variant,,ENST00000566565,;	414	62	23	SUCCESS
GDPD3	79153	.	GRCh37	16	30116234	30116234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	29	0	ENST00000406256.3:c.916C>A	p.His306Asn	p.H306N	ENST00000406256	NM_024307.2	306	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS10671.2	916	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTGCCGCA	NONE	.	.	PROSITE_profiles:PS51704,hmmpanther:PTHR23344:SF12,hmmpanther:PTHR23344,Gene3D:3.20.20.190,Superfamily_domains:SSF51695	.	.	ENSP00000384363	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000406256	Transcript	.	.	ENSG00000102886	28638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.45)	.	GDPD3_HUMAN	GDPD3	HGNC	.	.	UPI00001FFEC4	SNV	GDPD3,missense_variant,p.His306Asn,ENST00000406256,;GDPD3,3_prime_UTR_variant,,ENST00000566613,;RP11-455F5.4,upstream_gene_variant,,ENST00000566190,;RP11-455F5.3,downstream_gene_variant,,ENST00000515455,;GDPD3,3_prime_UTR_variant,,ENST00000566434,;GDPD3,non_coding_transcript_exon_variant,,ENST00000360688,;GDPD3,non_coding_transcript_exon_variant,,ENST00000565704,;	1294	29	25	SUCCESS
ATMIN	23300	.	GRCh37	16	81077518	81077518	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	38	85	2	ENST00000299575.4:c.1415T>C	p.Ile472Thr	p.I472T	ENST00000299575	NM_015251.2	472	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS32494.1	1415	SOMATICSNIPER|VARSCANS	.	ATCTATAGCTG	NONE	.	.	hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF10	.	.	ENSP00000299575	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299575	Transcript	.	.	ENSG00000166454	29034	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.703)	.	deleterious(0.04)	.	ATMIN_HUMAN	ATMIN	HGNC	J3QRX7_HUMAN,D3DUL0_HUMAN	.	UPI00001B2485	SNV	ATMIN,missense_variant,p.Ile316Thr,ENST00000566488,;ATMIN,missense_variant,p.Ile316Thr,ENST00000564241,;ATMIN,missense_variant,p.Ile472Thr,ENST00000299575,;ATMIN,downstream_gene_variant,,ENST00000565237,;ATMIN,non_coding_transcript_exon_variant,,ENST00000539819,;ATMIN,downstream_gene_variant,,ENST00000562969,;	1439	87	52	SUCCESS
ATP2C2	9914	.	GRCh37	16	84444352	84444352	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756655642	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	32	0	ENST00000262429.4:c.496G>T	p.Val166Phe	p.V166F	ENST00000262429	NM_014861.2	166	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS42207.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGTTCCT	NONE	byFrequency	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,TIGRFAM_domain:TIGR01522,Pfam_domain:PF00122,Superfamily_domains:0049473	.	.	ENSP00000262429	.	6/27	.	.	.	.	.	.	.	.	rs756655642	6/27	PASS	ENST00000262429	Transcript	.	.	ENSG00000064270	29103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0.01)	.	AT2C2_HUMAN	ATP2C2	HGNC	.	.	UPI0000252110	SNV	ATP2C2,missense_variant,p.Val166Phe,ENST00000416219,;ATP2C2,missense_variant,p.Val166Phe,ENST00000262429,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565927,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565546,;ATP2C2,intron_variant,,ENST00000420010,;ATP2C2,3_prime_UTR_variant,,ENST00000569207,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565631,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000568160,;	585	32	28	SUCCESS
CDRT1	374286	.	GRCh37	17	15522794	15522794	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	156	1	ENST00000395906.3:c.33C>T	p.Ala11=	p.A11=	ENST00000395906	NM_006382.3	11	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45619.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGGGCATT	NONE	.	.	hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872	.	.	ENSP00000379242	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000395906	Transcript	.	.	ENSG00000241322	14379	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDRT1_HUMAN	CDRT1	HGNC	.	.	UPI00015D57D8	SNV	CDRT1,synonymous_variant,p.%3D,ENST00000395906,;RP11-385D13.1,intron_variant,,ENST00000455584,;CDRT1,upstream_gene_variant,,ENST00000261644,;	33	157	85	SUCCESS
SLC46A1	113235	.	GRCh37	17	26727867	26727867	+	intron_variant	Intron	SNP	G	G	A	rs367581001	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	13	0	ENST00000440501.1:c.1166-84C>T		p.*389*	ENST00000440501	NM_080669.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TGACCGGGAGT	NONE	.	.	.	.	.	ENSP00000406738	.	9/9	.	.	.	.	.	.	.	.	rs367581001	9/9	PASS	ENST00000457710	Transcript	.	.	ENSG00000004139	17074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SARM1	HGNC	.	.	UPI0000042801	SNV	SARM1,3_prime_UTR_variant,,ENST00000457710,;SLC46A1,intron_variant,,ENST00000440501,;SLC46A1,intron_variant,,ENST00000321666,;SLC46A1,intron_variant,,ENST00000582735,;SLC46A1,downstream_gene_variant,,ENST00000581516,;SARM1,downstream_gene_variant,,ENST00000579593,;SLC46A1,downstream_gene_variant,,ENST00000584995,;SLC46A1,downstream_gene_variant,,ENST00000584426,;SARM1,downstream_gene_variant,,ENST00000578128,;CTD-2350C19.1,upstream_gene_variant,,ENST00000583956,;CTD-2350C19.2,upstream_gene_variant,,ENST00000580714,;SLC46A1,intron_variant,,ENST00000584729,;SLC46A1,intron_variant,,ENST00000583295,;SLC46A1,downstream_gene_variant,,ENST00000578217,;SARM1,downstream_gene_variant,,ENST00000379061,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582345,;SARM1,downstream_gene_variant,,ENST00000580711,;SLC46A1,downstream_gene_variant,,ENST00000582590,;SARM1,downstream_gene_variant,,ENST00000003834,;SARM1,downstream_gene_variant,,ENST00000577870,;	7106	13	9	SUCCESS
RNF135	84282	.	GRCh37	17	29326075	29326075	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	61	0	ENST00000328381.5:c.1165T>C	p.Phe389Leu	p.F389L	ENST00000328381	NM_032322.3	389	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11262.1	1165	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCTTCTAT	NONE	.	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF200,PROSITE_profiles:PS50188	.	.	ENSP00000328340	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000328381	Transcript	.	.	ENSG00000181481	21158	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RN135_HUMAN	RNF135	HGNC	B3KV69_HUMAN	.	UPI00001AF795	SNV	RNF135,missense_variant,p.Phe389Leu,ENST00000328381,;RNF135,3_prime_UTR_variant,,ENST00000324689,;RNF135,3_prime_UTR_variant,,ENST00000443677,;RNF135,3_prime_UTR_variant,,ENST00000535306,;RNF135,downstream_gene_variant,,ENST00000434242,;RNF135,downstream_gene_variant,,ENST00000580444,;	2038	61	48	SUCCESS
NGFR	4804	.	GRCh37	17	47587941	47587941	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	31	0	ENST00000172229.3:c.736G>C	p.Gly246Arg	p.G246R	ENST00000172229	NM_002507.3	246	Ggc/Cgc	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS11549.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGAGGCACC	NONE	.	.	hmmpanther:PTHR23097:SF13,hmmpanther:PTHR23097	.	.	ENSP00000172229	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000172229	Transcript	.	.	ENSG00000064300	7809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	deleterious(0.02)	.	TNR16_HUMAN	NGFR	HGNC	B4E096_HUMAN	.	UPI0000049854	SNV	NGFR,missense_variant,p.Gly246Arg,ENST00000172229,;NGFR,missense_variant,p.Gly152Arg,ENST00000504201,;NGFR,downstream_gene_variant,,ENST00000509200,;RP5-1029K10.2,intron_variant,,ENST00000514506,;	861	31	27	SUCCESS
TOB1	10140	.	GRCh37	17	48940660	48940661	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GC	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	30	0	ENST00000268957.3:c.717_718dup	p.Pro240ArgfsTer84	p.P240Rfs*84	ENST00000268957	NM_001243877.1	240	cca/cGCca	0	.	.	.	.	.	GC	P/RX	protein_coding	YES	CCDS11576.1	718-719	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGTGGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17537,hmmpanther:PTHR17537:SF6	.	.	ENSP00000427695	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000499247	Transcript	.	.	ENSG00000141232	11979	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TOB1_HUMAN	TOB1	HGNC	.	.	UPI00001370FB	insertion	TOB1,frameshift_variant,p.Pro240ArgfsTer84,ENST00000499247,;TOB1,frameshift_variant,p.Pro240ArgfsTer84,ENST00000268957,;TOB1-AS1,upstream_gene_variant,,ENST00000416263,;TOB1-AS1,upstream_gene_variant,,ENST00000514358,;TOB1-AS1,upstream_gene_variant,,ENST00000523470,;TOB1,downstream_gene_variant,,ENST00000509385,;	1152-1153	30	28	SUCCESS
ABCA5	23461	.	GRCh37	17	67287403	67287403	+	synonymous_variant	Silent	SNP	C	C	T	rs779050072	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	92	0	ENST00000392676.3:c.1560G>A	p.Lys520=	p.K520=	ENST00000392676		520	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS11685.1	1560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTCTTTCC	NONE	byFrequency	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000376443	.	12/39	.	.	.	.	.	.	.	.	rs779050072	12/39	PASS	ENST00000392676	Transcript	.	.	ENSG00000154265	35	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA5_HUMAN	ABCA5	HGNC	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN	.	UPI000013DD9E	SNV	ABCA5,synonymous_variant,p.%3D,ENST00000392676,;ABCA5,synonymous_variant,p.%3D,ENST00000588877,;ABCA5,synonymous_variant,p.%3D,ENST00000392677,;ABCA5,synonymous_variant,p.%3D,ENST00000593153,;ABCA5,synonymous_variant,p.%3D,ENST00000586995,;	1625	92	51	SUCCESS
ITGB4	3691	.	GRCh37	17	73723340	73723340	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146966502	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	40	0	ENST00000200181.3:c.145G>T	p.Ala49Ser	p.A49S	ENST00000200181	NM_000213.3	49	Gcc/Tcc	0	A:0.0002	A:0	.	A:0	.	T	A/S	protein_coding	YES	CCDS11727.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGCCTAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002513,SMART_domains:SM00187,SMART_domains:SM00423,Superfamily_domains:SSF103575,Prints_domain:PR01186	A:0.002	A:0	ENSP00000200181	A:0	3/40	.	.	.	.	.	.	.	.	rs146966502,COSM4069642,COSM4069643	3/40	PASS	ENST00000200181	Transcript	.	A:0.0004	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(1)	A:0	tolerated(0.33)	0,1,1	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Ala49Ser,ENST00000579662,;ITGB4,missense_variant,p.Ala49Ser,ENST00000450894,;ITGB4,missense_variant,p.Ala49Ser,ENST00000339591,;ITGB4,missense_variant,p.Ala49Ser,ENST00000449880,;ITGB4,missense_variant,p.Ala49Ser,ENST00000200181,;ITGB4,upstream_gene_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,upstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;	332	40	33	SUCCESS
SPHK1	8877	.	GRCh37	17	74382080	74382096	+	frameshift_variant	Frame_Shift_Del	DEL	GGCGTGCTCCCGCGGCC	GGCGTGCTCCCGCGGCC	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	GGCGTGCTCCCGCGGCC	GGCGTGCTCCCGCGGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	29	0	ENST00000392496.3:c.25_41del	p.Gly9LeufsTer30	p.G9Lfs*30	ENST00000392496	NM_001142602.1	9	GGCGTGCTCCCGCGGCCc/c	0	.	.	.	.	.	-	GVLPRP/X	protein_coding	YES	CCDS11744.1	283-299	INDELOCATOR*|PINDEL	.	CCCCGGGGCGTGCTCCCGCGGCCCTGCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50146,hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF11,Superfamily_domains:SSF111331	.	.	ENSP00000313681	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000323374	Transcript	.	.	ENSG00000176170	11240	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPHK1_HUMAN	SPHK1	HGNC	Q9BTG7_HUMAN,Q53ZR5_HUMAN,K7EMA4_HUMAN,K7EJ32_HUMAN	.	UPI00001AF3B5	deletion	SPHK1,frameshift_variant,p.Gly23LeufsTer30,ENST00000590959,;SPHK1,frameshift_variant,p.Gly9LeufsTer30,ENST00000590379,;SPHK1,frameshift_variant,p.Gly9LeufsTer30,ENST00000392496,;SPHK1,frameshift_variant,p.Gly95LeufsTer30,ENST00000323374,;SPHK1,frameshift_variant,p.Gly9LeufsTer30,ENST00000545180,;SPHK1,frameshift_variant,p.Gly9LeufsTer30,ENST00000588682,;SPHK1,frameshift_variant,p.Gly9LeufsTer30,ENST00000592299,;UBE2O,downstream_gene_variant,,ENST00000319380,;UBE2O,downstream_gene_variant,,ENST00000587127,;PRPSAP1,upstream_gene_variant,,ENST00000442767,;PRPSAP1,upstream_gene_variant,,ENST00000423915,;SPHK1,downstream_gene_variant,,ENST00000591651,;SPHK1,non_coding_transcript_exon_variant,,ENST00000591762,;SPHK1,upstream_gene_variant,,ENST00000587167,;	739-755	29	26	SUCCESS
UBE2O	63893	.	GRCh37	17	74387235	74387235	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745998318	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	44	0	ENST00000319380.7:c.3668C>A	p.Ala1223Glu	p.A1223E	ENST00000319380	NM_022066.3	1223	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS32742.1	3668	RADIA|VARSCANS	.	CTGGTGCGGTC	NONE	byFrequency	.	hmmpanther:PTHR24067:SF22,hmmpanther:PTHR24067	.	.	ENSP00000323687	.	18/18	.	.	.	.	.	.	.	.	rs745998318	18/18	PASS	ENST00000319380	Transcript	.	.	ENSG00000175931	29554	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.051)	.	tolerated_low_confidence(0.19)	.	UBE2O_HUMAN	UBE2O	HGNC	.	.	UPI000020032F	SNV	UBE2O,missense_variant,p.Ala1223Glu,ENST00000319380,;UBE2O,missense_variant,p.Ala738Glu,ENST00000587127,;SPHK1,downstream_gene_variant,,ENST00000590959,;SPHK1,downstream_gene_variant,,ENST00000590379,;SPHK1,downstream_gene_variant,,ENST00000392496,;SPHK1,downstream_gene_variant,,ENST00000323374,;SPHK1,downstream_gene_variant,,ENST00000545180,;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,downstream_gene_variant,,ENST00000592299,;SPHK1,downstream_gene_variant,,ENST00000591762,;UBE2O,downstream_gene_variant,,ENST00000586409,;SPHK1,downstream_gene_variant,,ENST00000587167,;	3733	44	38	SUCCESS
SEPT9	0	.	GRCh37	17	75303253	75303253	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs766496203	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	38	0	ENST00000427177.1:c.50G>C	p.Arg17Pro	p.R17P	ENST00000427177	NM_001113491.1	17	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS45790.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCGGAGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000391249	.	2/12	.	.	.	.	.	.	.	.	rs766496203	2/12	PASS	ENST00000427177	Transcript	.	.	ENSG00000184640	7323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.453)	.	deleterious_low_confidence(0.04)	.	SEPT9_HUMAN	SEPT9	HGNC	Q96QF2_HUMAN,K7ERG1_HUMAN,K7ER52_HUMAN,K7EQD7_HUMAN,K7ENQ5_HUMAN,K7EN52_HUMAN,K7ELJ9_HUMAN,K7EL40_HUMAN,K7EKN4_HUMAN,K7EK18_HUMAN,K7EJZ2_HUMAN,K7EIR4_HUMAN,K7EIE4_HUMAN	.	UPI00001AF955	SNV	SEPT9,missense_variant,p.Arg17Pro,ENST00000427177,;SEPT9,5_prime_UTR_variant,,ENST00000431235,;SEPT9,5_prime_UTR_variant,,ENST00000449803,;SEPT9,intron_variant,,ENST00000591198,;SEPT9,intron_variant,,ENST00000589070,;SEPT9,non_coding_transcript_exon_variant,,ENST00000587237,;SEPT9,3_prime_UTR_variant,,ENST00000590576,;SEPT9,3_prime_UTR_variant,,ENST00000591833,;	176	38	29	SUCCESS
TP53	7157	.	GRCh37	17	7578264	7578270	+	frameshift_variant	Frame_Shift_Del	DEL	GATAAGA	GATAAGA	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	GATAAGA	GATAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	57	0	ENST00000269305.4:c.579_585del	p.Leu194GlufsTer51	p.L194Efs*51	ENST00000269305	NM_001126112.2	193	caTCTTATC/ca	0	.	.	.	.	.	-	HLI/X	protein_coding	YES	CCDS11118.1	579-585	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTCGGATAAGATGCTG	CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.R196*|c.585_586CC>TT|7,CODON|p.R196fs*51|c.586delC|3,CODON|p.R64fs*>27|c.190delC|3,CODON|p.R196fs*51|c.586delC|3,CODON|p.R103fs*51|c.307delC|3,CODON|p.R196fs*51|c.586delC|7,CODON|p.R64*|c.190C>T|65,CODON|p.R196*|c.586C>T|45,CODON|p.R196*|c.586C>T|33,CODON|p.R196*|c.586C>T|64,CODON|p.R196*|c.586C>T|64,CODON|p.R103*|c.307C>T|64,CODON|p.R196*|c.586C>T|180,CODON|p.I102N|c.305T>A|10,CODON|p.I102T|c.305T>C|21,CODON|p.I195N|c.584T>A|10,CODON|p.I63S|c.188T>G|3,CODON|p.I195T|c.584T>C|88,CODON|p.I195N|c.584T>A|4,CODON|p.I195T|c.584T>C|21,CODON|p.I63N|c.188T>A|10,CODON|p.I195T|c.584T>C|12,CODON|p.I63T|c.188T>C|21,CODON|p.I195T|c.584T>C|21,CODON|p.I195N|c.584T>A|10,CODON|p.I195N|c.584T>A|23,CODON|p.I195T|c.584T>C|10,CODON|p.I195N|c.584T>A|10,CODON|p.I195S|c.584T>G|7,CODON|p.I195F|c.583A>T|6,CODON|p.I195F|c.583A>T|28,CODON|p.I195F|c.583A>T|9,CODON|p.I63F|c.187A>T|9,CODON|p.I102F|c.304A>T|9,CODON|p.I195F|c.583A>T|5,CODON|p.I195F|c.583A>T|9,CODON|p.L194L|c.582T>C|3,CODON|p.L62R|c.185T>G|17,CODON|p.L194R|c.581T>G|50,CODON|p.L194R|c.581T>G|11,CODON|p.L194H|c.581T>A|6,CODON|p.L194P|c.581T>C|9,CODON|p.L101R|c.302T>G|17,CODON|p.L194R|c.581T>G|9,CODON|p.L194R|c.581T>G|17,CODON|p.L194R|c.581T>G|17,CODON|p.L194F|c.580C>T|3,CODON|p.L194F|c.580C>T|3,CODON|p.L194F|c.580C>T|19,CODON|p.L101F|c.301C>T|3,CODON|p.L62F|c.184C>T|3,BUFFER|p.G199V|c.596G>T|10,BUFFER|p.G106V|c.317G>T|6,BUFFER|p.G67V|c.200G>T|6,BUFFER|p.G199V|c.596G>T|6,BUFFER|p.G199V|c.596G>T|6,BUFFER|p.G199E|c.596G>A|11,BUFFER|p.G199*|c.595G>T|5,BUFFER|p.G199R|c.595G>A|9,BUFFER|p.E198*|c.592G>T|5,BUFFER|p.E198K|c.592G>A|5,BUFFER|p.E198*|c.592G>T|4,BUFFER|p.E105*|c.313G>T|9,BUFFER|p.E198*|c.592G>T|27,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.E66*|c.196G>T|9,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.V197G|c.590T>G|15,BUFFER|p.V197E|c.590T>A|8,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Leu194GlufsTer51,ENST00000413465,;TP53,frameshift_variant,p.Leu194GlufsTer51,ENST00000420246,;TP53,frameshift_variant,p.Leu194GlufsTer51,ENST00000269305,;TP53,frameshift_variant,p.Leu62GlufsTer51,ENST00000509690,;TP53,frameshift_variant,p.Leu194GlufsTer51,ENST00000359597,;TP53,frameshift_variant,p.Leu101GlufsTer51,ENST00000514944,;TP53,frameshift_variant,p.Leu194GlufsTer51,ENST00000445888,;TP53,frameshift_variant,p.Leu194GlufsTer51,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	769-775	57	24	SUCCESS
CBX4	8535	.	GRCh37	17	77808471	77808471	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138355116	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	37	0	ENST00000269397.4:c.970C>T	p.Pro324Ser	p.P324S	ENST00000269397	NM_003655.2	324	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS32758.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GGGCGGCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22812:SF10,hmmpanther:PTHR22812	.	.	ENSP00000269397	.	5/5	.	.	.	.	.	.	.	.	rs138355116,COSM110355	5/5	PASS	ENST00000269397	Transcript	.	.	ENSG00000141582	1554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	benign(0.444)	.	tolerated(1)	1,1	CBX4_HUMAN	CBX4	HGNC	.	.	UPI000013D82E	SNV	CBX4,missense_variant,p.Pro324Ser,ENST00000269397,;CBX4,downstream_gene_variant,,ENST00000495122,;CBX4,downstream_gene_variant,,ENST00000448310,;CBX4,downstream_gene_variant,,ENST00000494546,;	1148	37	25	SUCCESS
VAPA	9218	.	GRCh37	18	9914271	9914271	+	synonymous_variant	Silent	SNP	G	G	T	rs767175347	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	12	0	ENST00000400000.2:c.18G>T	p.Gly6=	p.G6=	ENST00000400000	NM_194434.2	6	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS11847.2	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGGCCAT	NONE	.	.	hmmpanther:PTHR10809,hmmpanther:PTHR10809:SF40,PIRSF_domain:PIRSF019693,Superfamily_domains:SSF49354	.	.	ENSP00000345656	.	1/7	.	.	.	.	.	.	.	.	rs767175347	1/7	PASS	ENST00000340541	Transcript	.	.	ENSG00000101558	12648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAPA_HUMAN	VAPA	HGNC	.	.	UPI000059D45E	SNV	VAPA,synonymous_variant,p.%3D,ENST00000340541,;VAPA,synonymous_variant,p.%3D,ENST00000400000,;RP11-474N24.6,upstream_gene_variant,,ENST00000609787,;VAPA,upstream_gene_variant,,ENST00000578314,;VAPA,upstream_gene_variant,,ENST00000584796,;VAPA,synonymous_variant,p.%3D,ENST00000585042,;VAPA,non_coding_transcript_exon_variant,,ENST00000577901,;	213	12	19	SUCCESS
RYR1	6261	.	GRCh37	19	38960151	38960151	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1186295753	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	28	0	ENST00000359596.3:c.3763G>A	p.Glu1255Lys	p.E1255K	ENST00000359596		1255	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33011.1	3763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATGAGGTA	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	27/106	.	.	.	.	.	.	.	.	COSM1525432	27/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.171)	.	.	1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Glu1255Lys,ENST00000355481,;RYR1,missense_variant,p.Glu1255Lys,ENST00000360985,;RYR1,missense_variant,p.Glu1255Lys,ENST00000359596,;RYR1,downstream_gene_variant,,ENST00000594111,;	3763	28	17	SUCCESS
RPL18	6141	.	GRCh37	19	49121059	49121059	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751909110	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	24	42	0	ENST00000549920.1:c.79C>A	p.Leu27Met	p.L27M	ENST00000549920	NM_000979.3	27	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS12726.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAGCCTCA	NONE	.	.	Superfamily_domains:SSF52080,Pfam_domain:PF00828,Gene3D:3.100.10.10,hmmpanther:PTHR10934	.	.	ENSP00000447001	.	2/7	.	.	.	.	.	.	.	.	rs751909110	2/7	PASS	ENST00000549920	Transcript	.	.	ENSG00000063177	10310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0.02)	.	RL18_HUMAN	RPL18	HGNC	Q0QEW2_HUMAN,G3V203_HUMAN,F8VUA6_HUMAN	.	UPI0000161C16	SNV	RPL18,missense_variant,p.Leu27Met,ENST00000549273,;RPL18,missense_variant,p.Leu29Met,ENST00000084795,;RPL18,missense_variant,p.Leu27Met,ENST00000550645,;RPL18,missense_variant,p.Leu27Met,ENST00000549920,;RPL18,5_prime_UTR_variant,,ENST00000550973,;RPL18,intron_variant,,ENST00000552588,;SPHK2,upstream_gene_variant,,ENST00000340932,;FAM83E,upstream_gene_variant,,ENST00000593772,;RPL18,upstream_gene_variant,,ENST00000546623,;SPHK2,upstream_gene_variant,,ENST00000245222,;SPHK2,upstream_gene_variant,,ENST00000598088,;SPHK2,upstream_gene_variant,,ENST00000601712,;SPHK2,upstream_gene_variant,,ENST00000600537,;FAM83E,upstream_gene_variant,,ENST00000263266,;AC022154.7,downstream_gene_variant,,ENST00000594850,;AC022154.7,downstream_gene_variant,,ENST00000600303,;AC022154.7,downstream_gene_variant,,ENST00000598735,;FAM83E,upstream_gene_variant,,ENST00000599126,;FAM83E,upstream_gene_variant,,ENST00000595110,;RPL18,missense_variant,p.Leu27Met,ENST00000547897,;RPL18,missense_variant,p.Leu27Met,ENST00000549370,;RPL18,non_coding_transcript_exon_variant,,ENST00000552705,;RPL18,non_coding_transcript_exon_variant,,ENST00000551749,;RPL18,non_coding_transcript_exon_variant,,ENST00000547892,;RPL18,non_coding_transcript_exon_variant,,ENST00000552347,;RPL18,non_coding_transcript_exon_variant,,ENST00000550671,;RPL18,intron_variant,,ENST00000552851,;RPL18,upstream_gene_variant,,ENST00000549533,;SPHK2,upstream_gene_variant,,ENST00000426514,;	472	42	38	SUCCESS
ZNF28	7576	.	GRCh37	19	53303883	53303883	+	synonymous_variant	Silent	SNP	A	A	G	rs1297636053	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	28	50	0	ENST00000457749.2:c.1215T>C	p.His405=	p.H405=	ENST00000457749	NM_006969.3	405	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS33093.2	1215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTATGAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,synonymous_variant,p.%3D,ENST00000391783,;ZNF28,synonymous_variant,p.%3D,ENST00000360272,;ZNF28,synonymous_variant,p.%3D,ENST00000457749,;ZNF28,synonymous_variant,p.%3D,ENST00000414252,;ZNF28,synonymous_variant,p.%3D,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;	1335	50	43	SUCCESS
ZNF845	91664	.	GRCh37	19	53855612	53855612	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs750629515	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	52	0	ENST00000458035.1:c.1686del	p.Gln563SerfsTer13	p.Q563Sfs*13	ENST00000458035	NM_138374.1	562	Ggg/gg	0	-:0.0009	.	.	.	.	-	G/X	protein_coding	YES	CCDS46170.1	1684	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCGTGGGCAG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50157	.	-:0.0015	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	rs750629515	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	deletion	ZNF845,frameshift_variant,p.Gln563SerfsTer13,ENST00000595091,;ZNF845,frameshift_variant,p.Gln563SerfsTer13,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	1801	52	67	SUCCESS
LENG8	114823	.	GRCh37	19	54966690	54966690	+	synonymous_variant	Silent	SNP	G	G	A	rs985703953	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	22	0	ENST00000326764.5:c.969G>A	p.Ala323=	p.A323=	ENST00000326764	NM_052925.2	323	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12894.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGCGGCT	NONE	.	.	hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,synonymous_variant,p.%3D,ENST00000326764,;LENG8,synonymous_variant,p.%3D,ENST00000431846,;LENG8,synonymous_variant,p.%3D,ENST00000376526,;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,downstream_gene_variant,,ENST00000462541,;	1448	22	20	SUCCESS
ZSCAN5B	342933	.	GRCh37	19	56704398	56704398	+	synonymous_variant	Silent	SNP	T	T	A	rs770091536	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	42	0	ENST00000358992.3:c.24A>T	p.Ser8=	p.S8=	ENST00000358992	NM_001080456.2	8	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46203.1	24	MUTECT|MUSE|VARSCANS	.	CCCCATGAGAG	NONE	byFrequency	.	.	.	.	ENSP00000466072	.	2/5	.	.	.	.	.	.	.	.	rs770091536	2/5	PASS	ENST00000586855	Transcript	.	.	ENSG00000197213	34246	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSA5B_HUMAN	ZSCAN5B	HGNC	K7ESD3_HUMAN,K7EJD1_HUMAN	.	UPI000059D7BA	SNV	ZSCAN5B,synonymous_variant,p.%3D,ENST00000587032,;ZSCAN5B,synonymous_variant,p.%3D,ENST00000589938,;ZSCAN5B,synonymous_variant,p.%3D,ENST00000586855,;ZSCAN5B,synonymous_variant,p.%3D,ENST00000358992,;	338	43	35	SUCCESS
ZNF582	147948	.	GRCh37	19	56896171	56896171	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	67	0	ENST00000301310.4:c.615G>A	p.Gly205=	p.G205=	ENST00000301310	NM_144690.1	205	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33121.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCCCACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF115,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000301310	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301310	Transcript	.	.	ENSG00000018869	26421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN582_HUMAN	ZNF582	HGNC	B4DQZ9_HUMAN	.	UPI000006D278	SNV	ZNF582,synonymous_variant,p.%3D,ENST00000586929,;ZNF582,synonymous_variant,p.%3D,ENST00000301310,;ZNF582,intron_variant,,ENST00000589143,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF542,downstream_gene_variant,,ENST00000495307,;ZNF582,downstream_gene_variant,,ENST00000593145,;ZNF582,downstream_gene_variant,,ENST00000587778,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;	774	67	67	SUCCESS
TRIP10	9322	.	GRCh37	19	6750013	6750022	+	frameshift_variant	Frame_Shift_Del	DEL	AGCCCCAGAT	AGCCCCAGAT	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	AGCCCCAGAT	AGCCCCAGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	36	0	ENST00000313244.9:c.1331_1340del	p.Glu444AlafsTer5	p.E444Afs*5	ENST00000313244		444	gAGCCCCAGATc/gc	0	.	.	.	.	.	-	EPQI/X	protein_coding	YES	CCDS12172.1	1163-1172	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTGGAGCCCCAGATCGCTG	NONE	.	.	hmmpanther:PTHR12602:SF7,hmmpanther:PTHR12602	.	.	ENSP00000320493	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000313285	Transcript	.	.	ENSG00000125733	12304	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CIP4_HUMAN	TRIP10	HGNC	M0R0F9_HUMAN,M0R070_HUMAN	.	UPI00001279E3	deletion	TRIP10,frameshift_variant,p.Glu388AlafsTer5,ENST00000313285,;TRIP10,frameshift_variant,p.Glu388AlafsTer5,ENST00000596758,;TRIP10,frameshift_variant,p.Glu280AlafsTer5,ENST00000600428,;TRIP10,frameshift_variant,p.Glu444AlafsTer5,ENST00000313244,;SH2D3A,downstream_gene_variant,,ENST00000245908,;SH2D3A,downstream_gene_variant,,ENST00000597687,;SH2D3A,downstream_gene_variant,,ENST00000437152,;CTD-3128G10.6,intron_variant,,ENST00000594056,;SH2D3A,downstream_gene_variant,,ENST00000597254,;SH2D3A,downstream_gene_variant,,ENST00000599563,;SH2D3A,downstream_gene_variant,,ENST00000597168,;TRIP10,3_prime_UTR_variant,,ENST00000600677,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595305,;TRIP10,non_coding_transcript_exon_variant,,ENST00000598843,;SH2D3A,downstream_gene_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000600491,;	1245-1254	36	30	SUCCESS
VAV1	7409	.	GRCh37	19	6833726	6833726	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	34	0	ENST00000602142.1:c.1713C>A	p.Phe571Leu	p.F571L	ENST00000602142	NM_005428.3	571	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS12174.1	1713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTCCCAGG	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF112,Gene3D:3.30.60.20	.	.	ENSP00000472929	.	18/27	.	.	.	.	.	.	.	.	COSM3541101,COSM3541102	18/27	PASS	ENST00000602142	Transcript	.	.	ENSG00000141968	12657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0)	.	tolerated(0.66)	1,1	VAV_HUMAN	VAV1	HGNC	.	.	UPI0000138213	SNV	VAV1,missense_variant,p.Phe474Leu,ENST00000539284,;VAV1,missense_variant,p.Phe539Leu,ENST00000596764,;VAV1,missense_variant,p.Phe516Leu,ENST00000599806,;VAV1,missense_variant,p.Phe571Leu,ENST00000304076,;VAV1,missense_variant,p.Phe571Leu,ENST00000602142,;VAV1,non_coding_transcript_exon_variant,,ENST00000601452,;VAV1,upstream_gene_variant,,ENST00000598270,;VAV1,downstream_gene_variant,,ENST00000597967,;VAV1,downstream_gene_variant,,ENST00000600396,;	1795	34	26	SUCCESS
ZNF697	90874	.	GRCh37	1	120165473	120165473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	37	2	ENST00000421812.2:c.1493G>T	p.Cys498Phe	p.C498F	ENST00000421812	NM_001080470.1	498	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS44202.1	1493	SOMATICSNIPER|VARSCANS	.	TGCCGCACTCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF55,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000396857	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000421812	Transcript	.	.	ENSG00000143067	32034	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN697_HUMAN	ZNF697	HGNC	Q8N508_HUMAN	.	UPI0000DD78D7	SNV	ZNF697,missense_variant,p.Cys498Phe,ENST00000421812,;	1613	39	44	SUCCESS
RP11-353N4.5	0	.	GRCh37	1	149649196	149649196	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	24	0	ENST00000608683.1:n.417A>C		p.*139*	ENST00000608683				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	RADIA|VARSCANS	.	TTTGCTTTCAC	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000608683	Transcript	.	.	ENSG00000234232	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-353N4.5	Clone_based_vega_gene	.	.	.	SNV	RP11-353N4.5,non_coding_transcript_exon_variant,,ENST00000608683,;RP11-353N4.2,non_coding_transcript_exon_variant,,ENST00000446265,;	417	24	23	SUCCESS
FCGR1A	2209	.	GRCh37	1	149755799	149755799	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	80	279	0	ENST00000369168.4:c.293T>A	p.Leu98Gln	p.L98Q	ENST00000369168	NM_000566.3	98	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS933.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGGAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF11,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000358165	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000369168	Transcript	.	.	ENSG00000150337	3613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCGR1_HUMAN	FCGR1A	HGNC	.	.	UPI000004A8BE	SNV	FCGR1A,missense_variant,p.Leu98Gln,ENST00000369168,;FCGR1A,intron_variant,,ENST00000444948,;HIST2H2BF,intron_variant,,ENST00000545683,;RP11-196G18.21,intron_variant,,ENST00000420462,;RP11-196G18.3,downstream_gene_variant,,ENST00000428289,;FCGR1A,downstream_gene_variant,,ENST00000489479,;	347	279	246	SUCCESS
CGN	57530	.	GRCh37	1	151502577	151502577	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	50	0	ENST00000271636.7:c.2299C>T	p.Leu767=	p.L767=	ENST00000271636	NM_020770.2	767	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS999.1	2299	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGCTGCAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF280,hmmpanther:PTHR13140	.	.	ENSP00000271636	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000271636	Transcript	.	.	ENSG00000143375	17429	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CING_HUMAN	CGN	HGNC	A6PVU7_HUMAN,A2A3M4_HUMAN	.	UPI0000161C1E	SNV	CGN,synonymous_variant,p.%3D,ENST00000271636,;SNORA44,upstream_gene_variant,,ENST00000517031,;CGN,upstream_gene_variant,,ENST00000473377,;CGN,downstream_gene_variant,,ENST00000464886,;	2432	50	61	SUCCESS
SPRR4	163778	.	GRCh37	1	152944518	152944518	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	78	0	ENST00000328051.2:c.152A>C	p.Lys51Thr	p.K51T	ENST00000328051	NM_173080.1	51	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS1031.1	152	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAAGAAGC	NONE	.	.	hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF19,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000332163	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328051	Transcript	.	.	ENSG00000184148	23173	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.04)	.	SPRR4_HUMAN	SPRR4	HGNC	.	.	UPI000006D059	SNV	SPRR4,missense_variant,p.Lys51Thr,ENST00000328051,;	201	78	75	SUCCESS
NUP210L	91181	.	GRCh37	1	154067567	154067567	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	88	1	ENST00000368559.3:c.2031G>C	p.Gly677=	p.G677=	ENST00000368559	NM_207308.2	677	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41399.1	2031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCCCCTTC	NONE	.	.	hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	.	.	ENSP00000357547	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	NUP210L,synonymous_variant,p.%3D,ENST00000368559,;NUP210L,synonymous_variant,p.%3D,ENST00000271854,;	2103	89	56	SUCCESS
NTRK1	4914	.	GRCh37	1	156843727	156843727	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	59	1	ENST00000524377.1:c.1153T>C	p.Phe385Leu	p.F385L	ENST00000524377	NM_002529.3	385	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1161.1	1153	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGTTCAAC	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF133,Prints_domain:PR01940	.	.	ENSP00000431418	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000524377	Transcript	.	.	ENSG00000198400	8031	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	tolerated(0.25)	.	NTRK1_HUMAN	NTRK1	HGNC	.	.	UPI000013D5D3	SNV	NTRK1,missense_variant,p.Phe355Leu,ENST00000392302,;NTRK1,missense_variant,p.Phe385Leu,ENST00000524377,;NTRK1,missense_variant,p.Phe385Leu,ENST00000358660,;NTRK1,missense_variant,p.Phe385Leu,ENST00000368196,;NTRK1,downstream_gene_variant,,ENST00000489021,;NTRK1,synonymous_variant,p.%3D,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,upstream_gene_variant,,ENST00000534682,;	1194	60	66	SUCCESS
OR10T2	128360	.	GRCh37	1	158368833	158368833	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	65	1	ENST00000334438.1:c.424G>T	p.Gly142Trp	p.G142W	ENST00000334438	NM_001004475.1	142	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS30895.1	424	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAACCCCAGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF98,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334115	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334438	Transcript	.	.	ENSG00000186306	14816	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	O10T2_HUMAN	OR10T2	HGNC	.	.	UPI000003F220	SNV	OR10T2,missense_variant,p.Gly142Trp,ENST00000334438,;	424	66	53	SUCCESS
KIF21B	23046	.	GRCh37	1	200945972	200945972	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	47	0	ENST00000422435.2:c.4375C>T	p.Leu1459=	p.L1459=	ENST00000422435	NM_001252100.1	1459	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS58056.1	4375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCAGGCACA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000411831	.	32/35	.	.	.	.	.	.	.	.	.	32/35	PASS	ENST00000422435	Transcript	.	.	ENSG00000116852	29442	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI21B_HUMAN	KIF21B	HGNC	.	.	UPI0000153E7C	SNV	KIF21B,synonymous_variant,p.%3D,ENST00000422435,;KIF21B,synonymous_variant,p.%3D,ENST00000360529,;KIF21B,synonymous_variant,p.%3D,ENST00000461742,;KIF21B,synonymous_variant,p.%3D,ENST00000332129,;	4692	47	29	SUCCESS
SLC45A3	85414	.	GRCh37	1	205632141	205632141	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	25	0	ENST00000367145.3:c.778C>A	p.Leu260Met	p.L260M	ENST00000367145	NM_033102.2	260	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS1458.1	778	RADIA|VARSCANS	.	GTGCAGCCGGG	NONE	.	.	hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000356113	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000367145	Transcript	.	.	ENSG00000158715	8642	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	tolerated(0.06)	.	S45A3_HUMAN	SLC45A3	HGNC	Q658X7_HUMAN,A8K2U9_HUMAN	.	UPI0000039836	SNV	SLC45A3,missense_variant,p.Leu260Met,ENST00000367145,;SLC45A3,upstream_gene_variant,,ENST00000460934,;	1074	25	28	SUCCESS
ITPKB	3707	.	GRCh37	1	226923399	226923399	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	39	0	ENST00000272117.3:c.1761A>C	p.Gly587=	p.G587=	ENST00000272117		587	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS1555.1	1761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTTCCCTG	NONE	.	.	hmmpanther:PTHR12400:SF4,hmmpanther:PTHR12400	.	.	ENSP00000411152	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,synonymous_variant,p.%3D,ENST00000366784,;ITPKB,synonymous_variant,p.%3D,ENST00000272117,;ITPKB,synonymous_variant,p.%3D,ENST00000429204,;	2089	39	37	SUCCESS
OBSCN	84033	.	GRCh37	1	228496800	228496800	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs756076165	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	28	0	ENST00000422127.1:c.12740C>T	p.Ala4247Val	p.A4247V	ENST00000422127	NM_001098623.2	4247	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS59204.1	15611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCTCCTG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	59/116	.	.	.	.	.	.	.	.	rs756076165	59/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala1881Val,ENST00000366707,;OBSCN,missense_variant,p.Ala1366Val,ENST00000366709,;OBSCN,missense_variant,p.Ala4247Val,ENST00000284548,;OBSCN,missense_variant,p.Ala4247Val,ENST00000422127,;OBSCN,missense_variant,p.Ala5204Val,ENST00000570156,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000359599,;OBSCN,downstream_gene_variant,,ENST00000602832,;	15685	28	22	SUCCESS
RYR2	6262	.	GRCh37	1	237711846	237711846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	67	1	ENST00000366574.2:c.3022G>T	p.Ala1008Ser	p.A1008S	ENST00000366574	NM_001035.2	1008	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS55691.1	3022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGCGCGG	NONE	.	.	Pfam_domain:PF02026,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	26/105	.	.	.	.	.	.	.	.	.	26/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Ala992Ser,ENST00000542537,;RYR2,missense_variant,p.Ala1008Ser,ENST00000366574,;RYR2,missense_variant,p.Ala1006Ser,ENST00000360064,;	3339	68	53	SUCCESS
GCLM	2730	.	GRCh37	1	94354618	94354618	+	synonymous_variant	Silent	SNP	C	C	T	rs567112849	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	68	0	ENST00000370238.3:c.753G>A	p.Ser251=	p.S251=	ENST00000370238	NM_002061.2	251	tcG/tcA	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS746.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACCGAATA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13295	T:0	.	ENSP00000359258	T:0	7/7	.	.	.	.	.	.	.	.	rs567112849,COSM913437	7/7	PASS	ENST00000370238	Transcript	.	T:0.0004	ENSG00000023909	4312	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.002	.	0,1	GSH0_HUMAN	GCLM	HGNC	M5A959_HUMAN,D3DT44_HUMAN	.	UPI000000D9B9	SNV	GCLM,synonymous_variant,p.%3D,ENST00000370238,;	1000	68	44	SUCCESS
KRTAP10-2	386679	.	GRCh37	21	45970816	45970816	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	24	0	ENST00000391621.1:c.526T>A	p.Ser176Thr	p.S176T	ENST00000391621	NM_198693.2	176	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS42955.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGAGGAGG	BUFFER|p.P177L|c.530C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Pfam_domain:PF13885	.	.	ENSP00000375479	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391621	Transcript	.	.	ENSG00000205445	22967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.08)	.	KR102_HUMAN	KRTAP10-2	HGNC	.	.	UPI000021C438	SNV	KRTAP10-2,missense_variant,p.Ser176Thr,ENST00000391621,;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-2,intron_variant,,ENST00000498210,;	573	24	16	SUCCESS
DERL3	91319	.	GRCh37	22	24179889	24179889	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	38	0	ENST00000318109.7:c.480C>A	p.Gly160=	p.G160=	ENST00000318109		160	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46672.1	480	RADIA|VARSCANS	.	GAGAAGCCCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11009,hmmpanther:PTHR11009:SF4,Pfam_domain:PF04511,Superfamily_domains:SSF144091	.	.	ENSP00000384744	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000406855	Transcript	.	.	ENSG00000099958	14236	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DERL3_HUMAN	DERL3	HGNC	.	.	UPI00001C2050	SNV	DERL3,synonymous_variant,p.%3D,ENST00000318109,;DERL3,synonymous_variant,p.%3D,ENST00000406855,;DERL3,synonymous_variant,p.%3D,ENST00000476077,;DERL3,intron_variant,,ENST00000404056,;SMARCB1,downstream_gene_variant,,ENST00000407082,;SMARCB1,downstream_gene_variant,,ENST00000407422,;SMARCB1,downstream_gene_variant,,ENST00000263121,;SMARCB1,downstream_gene_variant,,ENST00000344921,;DERL3,non_coding_transcript_exon_variant,,ENST00000488272,;DERL3,upstream_gene_variant,,ENST00000464034,;DERL3,upstream_gene_variant,,ENST00000493596,;DERL3,upstream_gene_variant,,ENST00000464023,;DERL3,non_coding_transcript_exon_variant,,ENST00000290730,;DERL3,non_coding_transcript_exon_variant,,ENST00000464110,;	499	38	18	SUCCESS
MYH9	4627	.	GRCh37	22	36689429	36689429	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	23	0	ENST00000216181.5:c.4041G>A	p.Glu1347=	p.E1347=	ENST00000216181	NM_002473.4	1347	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS13927.1	4041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000216181	.	30/41	.	.	.	.	.	.	.	.	COSM350309	30/41	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,synonymous_variant,p.%3D,ENST00000216181,;MYH9,downstream_gene_variant,,ENST00000459960,;	4272	23	16	SUCCESS
TTLL12	23170	.	GRCh37	22	43575637	43575637	+	synonymous_variant	Silent	SNP	G	G	A	rs745511557	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	20	0	ENST00000216129.6:c.828C>T	p.Ala276=	p.A276=	ENST00000216129	NM_015140.3	276	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14047.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGGCGGG	NONE	byFrequency	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF13	.	.	ENSP00000216129	.	5/14	.	.	.	.	.	.	.	.	rs745511557	5/14	PASS	ENST00000216129	Transcript	.	.	ENSG00000100304	28974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTL12_HUMAN	TTLL12	HGNC	.	.	UPI000013938D	SNV	TTLL12,synonymous_variant,p.%3D,ENST00000216129,;TTLL12,upstream_gene_variant,,ENST00000484118,;	892	20	18	SUCCESS
LDOC1L	0	.	GRCh37	22	44893625	44893625	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	26	0	ENST00000341255.3:c.-189G>A		p.*63*	ENST00000341255	NM_032287.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33662.1	.	RADIA|MUSE	.	TCCCACGCGGC	NONE	.	.	.	.	.	ENSP00000340434	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,5_prime_UTR_variant,,ENST00000341255,;	322	26	15	SUCCESS
TUBGCP6	85378	.	GRCh37	22	50682494	50682494	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1334859443	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	24	0	ENST00000248846.5:c.395A>G	p.Tyr132Cys	p.Y132C	ENST00000248846		132	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14087.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTAGTCT	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32	.	.	ENSP00000248846	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000248846	Transcript	.	.	ENSG00000128159	18127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.751)	.	deleterious(0)	.	GCP6_HUMAN	TUBGCP6	HGNC	.	.	UPI000013CC55	SNV	TUBGCP6,missense_variant,p.Tyr132Cys,ENST00000248846,;TUBGCP6,missense_variant,p.Tyr132Cys,ENST00000439308,;HDAC10,downstream_gene_variant,,ENST00000349505,;HDAC10,downstream_gene_variant,,ENST00000216271,;HDAC10,downstream_gene_variant,,ENST00000448072,;TUBGCP6,upstream_gene_variant,,ENST00000434349,;HDAC10,downstream_gene_variant,,ENST00000498366,;HDAC10,downstream_gene_variant,,ENST00000483222,;HDAC10,downstream_gene_variant,,ENST00000496909,;MAPK12,downstream_gene_variant,,ENST00000497036,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;HDAC10,downstream_gene_variant,,ENST00000475965,;HDAC10,downstream_gene_variant,,ENST00000471375,;HDAC10,downstream_gene_variant,,ENST00000496235,;HDAC10,downstream_gene_variant,,ENST00000477814,;HDAC10,downstream_gene_variant,,ENST00000454936,;HDAC10,downstream_gene_variant,,ENST00000429374,;HDAC10,downstream_gene_variant,,ENST00000415993,;HDAC10,downstream_gene_variant,,ENST00000470378,;HDAC10,downstream_gene_variant,,ENST00000476310,;HDAC10,downstream_gene_variant,,ENST00000497952,;	500	24	18	SUCCESS
RNF149	284996	.	GRCh37	2	101911551	101911551	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1201528746	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	83	0	ENST00000295317.3:c.553A>G	p.Ile185Val	p.I185V	ENST00000295317	NM_173647.3	185	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2051.1	553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTATGGTCA	NONE	.	.	hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF39,Gene3D:3.50.30.30,Superfamily_domains:SSF52025	.	.	ENSP00000295317	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000295317	Transcript	.	.	ENSG00000163162	23137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.13)	.	RN149_HUMAN	RNF149	HGNC	Q53SV6_HUMAN	.	UPI0000366F4A	SNV	RNF149,missense_variant,p.Ile185Val,ENST00000295317,;RNF149,missense_variant,p.Ile185Val,ENST00000424632,;RNF149,upstream_gene_variant,,ENST00000478404,;	661	83	64	SUCCESS
GREB1	9687	.	GRCh37	2	11716535	11716535	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	34	135	0	ENST00000234142.5:c.511T>C	p.Phe171Leu	p.F171L	ENST00000234142		171	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS42655.1	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAATTCTCC	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Phe61Leu,ENST00000389825,;GREB1,missense_variant,p.Phe171Leu,ENST00000234142,;GREB1,missense_variant,p.Phe171Leu,ENST00000263834,;GREB1,missense_variant,p.Phe171Leu,ENST00000381483,;GREB1,missense_variant,p.Phe171Leu,ENST00000381486,;	811	135	147	SUCCESS
STEAP3	55240	.	GRCh37	2	120005515	120005515	+	synonymous_variant	Silent	SNP	C	C	A	rs372658109	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	31	0	ENST00000393106.2:c.753C>A	p.Pro251=	p.P251=	ENST00000393106	NM_018234.2	251	ccC/ccA	0	T:0	.	.	.	.	A	P	protein_coding	YES	CCDS42738.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCGTGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14239:SF7,hmmpanther:PTHR14239	.	T:0.0001	ENSP00000376822	.	4/6	.	.	.	.	.	.	.	.	rs372658109	4/6	PASS	ENST00000393110	Transcript	.	.	ENSG00000115107	24592	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STEA3_HUMAN	STEAP3	HGNC	.	.	UPI0000207E04	SNV	STEAP3,synonymous_variant,p.%3D,ENST00000450943,;STEAP3,synonymous_variant,p.%3D,ENST00000393106,;STEAP3,synonymous_variant,p.%3D,ENST00000393108,;STEAP3,synonymous_variant,p.%3D,ENST00000409811,;STEAP3,synonymous_variant,p.%3D,ENST00000354888,;STEAP3,synonymous_variant,p.%3D,ENST00000393107,;STEAP3,synonymous_variant,p.%3D,ENST00000425223,;STEAP3,synonymous_variant,p.%3D,ENST00000393110,;STEAP3-AS1,intron_variant,,ENST00000454260,;	1234	31	38	SUCCESS
ARHGAP15	55843	.	GRCh37	2	144314011	144314011	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	62	1	ENST00000295095.6:c.960C>A	p.Gly320=	p.G320=	ENST00000295095	NM_018460.3	320	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2184.1	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCAATCT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF5,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000295095	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000295095	Transcript	.	.	ENSG00000075884	21030	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG15_HUMAN	ARHGAP15	HGNC	.	.	UPI0000035D98	SNV	ARHGAP15,synonymous_variant,p.%3D,ENST00000295095,;RP11-570L15.1,intron_variant,,ENST00000553076,;RP11-570L15.2,intron_variant,,ENST00000546678,;ARHGAP15,synonymous_variant,p.%3D,ENST00000419455,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000549436,;	1127	63	47	SUCCESS
FIGN	55137	.	GRCh37	2	164468244	164468244	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs765780931	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	71	1	ENST00000333129.3:c.98G>C	p.Arg33Pro	p.R33P	ENST00000333129	NM_018086.2	33	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS2221.2	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCGAGTG	NONE	.	.	hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	.	.	ENSP00000333836	.	3/3	.	.	.	.	.	.	.	.	rs765780931,COSM161076	3/3	PASS	ENST00000333129	Transcript	.	.	ENSG00000182263	13285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.989)	.	tolerated(0.22)	0,1	FIGN_HUMAN	FIGN	HGNC	.	.	UPI000022BD13	SNV	FIGN,missense_variant,p.Arg33Pro,ENST00000333129,;FIGN,intron_variant,,ENST00000409634,;FIGN,non_coding_transcript_exon_variant,,ENST00000482917,;	413	72	60	SUCCESS
FN1	2335	.	GRCh37	2	216256381	216256381	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1362134539	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	42	0	ENST00000359671.1:c.3953C>A	p.Pro1318His	p.P1318H	ENST00000359671		1318	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS42814.1	4226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGAGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	26/46	.	.	.	.	.	.	.	.	.	26/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.03)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Pro1318His,ENST00000357867,;FN1,missense_variant,p.Pro1409His,ENST00000432072,;FN1,missense_variant,p.Pro1318His,ENST00000421182,;FN1,missense_variant,p.Pro1318His,ENST00000443816,;FN1,missense_variant,p.Pro1318His,ENST00000346544,;FN1,missense_variant,p.Pro1318His,ENST00000345488,;FN1,missense_variant,p.Pro1409His,ENST00000354785,;FN1,missense_variant,p.Pro1318His,ENST00000336916,;FN1,missense_variant,p.Pro1318His,ENST00000359671,;FN1,missense_variant,p.Pro1318His,ENST00000357009,;FN1,missense_variant,p.Pro125His,ENST00000456923,;FN1,missense_variant,p.Pro1318His,ENST00000446046,;FN1,missense_variant,p.Pro1409His,ENST00000323926,;FN1,missense_variant,p.Pro1318His,ENST00000356005,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;	4596	42	58	SUCCESS
CNPPD1	27013	.	GRCh37	2	220041627	220041627	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	19	0	ENST00000360507.5:c.-77G>C		p.*26*	ENST00000360507	NM_015680.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2433.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCCGCCTG	NONE	.	.	.	.	.	ENSP00000386277	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409789	Transcript	.	.	ENSG00000115649	25220	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPD1_HUMAN	CNPPD1	HGNC	C9JF31_HUMAN	.	UPI000013D5FA	SNV	CNPPD1,5_prime_UTR_variant,,ENST00000360507,;FAM134A,intron_variant,,ENST00000458520,;CNPPD1,intron_variant,,ENST00000409789,;CNPPD1,intron_variant,,ENST00000453038,;FAM134A,upstream_gene_variant,,ENST00000443757,;CNPPD1,upstream_gene_variant,,ENST00000451647,;FAM134A,upstream_gene_variant,,ENST00000430297,;FAM134A,upstream_gene_variant,,ENST00000452022,;FAM134A,upstream_gene_variant,,ENST00000420189,;FAM134A,upstream_gene_variant,,ENST00000430747,;FAM134A,upstream_gene_variant,,ENST00000452293,;FAM134A,upstream_gene_variant,,ENST00000273048,;FAM134A,upstream_gene_variant,,ENST00000481925,;FAM134A,upstream_gene_variant,,ENST00000465672,;	.	19	29	SUCCESS
ALPI	248	.	GRCh37	2	233322924	233322924	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs368718188	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	54	0	ENST00000295463.3:c.992-3C>T		p.X331_splice	ENST00000295463	NM_001631.3	331		0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS2492.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCAGGCG	NONE	byFrequency|byCluster	.	.	.	T:0.0002	ENSP00000295463	.	.	.	.	.	.	.	.	.	.	rs368718188	.	PASS	ENST00000295463	Transcript	.	.	ENSG00000163295	437	.	.	LOW	8/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPBI_HUMAN	ALPI	HGNC	.	.	UPI0000131FFE	SNV	ALPI,splice_region_variant,,ENST00000295463,;ALPI,splice_region_variant,,ENST00000457560,;	.	54	46	SUCCESS
TMEM214	54867	.	GRCh37	2	27260450	27260450	+	synonymous_variant	Silent	SNP	G	G	A	rs778230934	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	80	1	ENST00000238788.9:c.1032G>A	p.Gln344=	p.Q344=	ENST00000238788	NM_017727.4	344	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS42664.1	1032	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAGCTCTA	NONE	.	.	hmmpanther:PTHR13448,Pfam_domain:PF10151	.	.	ENSP00000238788	.	9/17	.	.	.	.	.	.	.	.	rs778230934	9/17	PASS	ENST00000238788	Transcript	.	.	ENSG00000119777	25983	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM214_HUMAN	TMEM214	HGNC	B2RD07_HUMAN	.	UPI00003FF926	SNV	TMEM214,synonymous_variant,p.%3D,ENST00000425720,;TMEM214,synonymous_variant,p.%3D,ENST00000404032,;TMEM214,synonymous_variant,p.%3D,ENST00000238788,;TMEM214,upstream_gene_variant,,ENST00000444135,;AGBL5,upstream_gene_variant,,ENST00000421915,;TMEM214,synonymous_variant,p.%3D,ENST00000321326,;TMEM214,synonymous_variant,p.%3D,ENST00000435172,;TMEM214,non_coding_transcript_exon_variant,,ENST00000460904,;TMEM214,non_coding_transcript_exon_variant,,ENST00000475258,;TMEM214,upstream_gene_variant,,ENST00000469445,;TMEM214,upstream_gene_variant,,ENST00000460665,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,downstream_gene_variant,,ENST00000495312,;TMEM214,downstream_gene_variant,,ENST00000478980,;	1094	81	51	SUCCESS
BIRC6	57448	.	GRCh37	2	32716623	32716623	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	61	0	ENST00000421745.2:c.8338C>A	p.Gln2780Lys	p.Q2780K	ENST00000421745	NM_016252.3	2780	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS33175.2	8338	MUTECT|MUSE|VARSCANS	.	GTCCACAGGTA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	44/74	.	.	.	.	.	.	.	.	.	44/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.152)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Gln2780Lys,ENST00000421745,;	8472	61	50	SUCCESS
FAHD2B	151313	.	GRCh37	2	97751541	97751541	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767328246	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	41	121	0	ENST00000272610.3:c.580C>T	p.Arg194Cys	p.R194C	ENST00000272610	NM_199336.1	194	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS2030.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACGAGCAC	NONE	.	.	hmmpanther:PTHR11820:SF77,hmmpanther:PTHR11820,Gene3D:3.90.850.10,Pfam_domain:PF01557,Superfamily_domains:SSF56529	.	.	ENSP00000410470	.	6/9	.	.	.	.	.	.	.	.	rs767328246	6/9	PASS	ENST00000414820	Transcript	.	.	ENSG00000144199	25318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	FAH2B_HUMAN	FAHD2B	HGNC	.	.	UPI000004D29E	SNV	FAHD2B,missense_variant,p.Arg194Cys,ENST00000272610,;FAHD2B,missense_variant,p.Arg194Cys,ENST00000440566,;FAHD2B,missense_variant,p.Arg194Cys,ENST00000414820,;FAHD2B,downstream_gene_variant,,ENST00000468548,;FAHD2B,non_coding_transcript_exon_variant,,ENST00000463096,;FAHD2B,intron_variant,,ENST00000474849,;FAHD2B,downstream_gene_variant,,ENST00000483657,;AC018892.9,downstream_gene_variant,,ENST00000340118,;AC018892.9,downstream_gene_variant,,ENST00000445404,;	851	121	86	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111764772	111764772	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	162	0	ENST00000452346.2:c.673G>C	p.Asp225His	p.D225H	ENST00000452346		225	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS43129.2	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGACTCT	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,Superfamily_domains:0047452	.	.	ENSP00000411645	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,missense_variant,p.Asp225His,ENST00000452346,;TMPRSS7,missense_variant,p.Asp88His,ENST00000460599,;TMPRSS7,missense_variant,p.Asp112His,ENST00000419127,;TMPRSS7,missense_variant,p.Asp112His,ENST00000435737,;	416	162	134	SUCCESS
TF	7018	.	GRCh37	3	133465232	133465232	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	11	20	0	ENST00000402696.3:c.-53G>C		p.*18*	ENST00000402696	NM_001063.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3080.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGCTGCA	NONE	.	.	.	.	.	ENSP00000385834	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	SNV	TF,5_prime_UTR_variant,,ENST00000402696,;TF,intron_variant,,ENST00000466911,;TF,upstream_gene_variant,,ENST00000482271,;TF,upstream_gene_variant,,ENST00000264998,;TFP1,intron_variant,,ENST00000460564,;TF,upstream_gene_variant,,ENST00000475382,;TF,non_coding_transcript_exon_variant,,ENST00000474287,;TF,upstream_gene_variant,,ENST00000493011,;TF,upstream_gene_variant,,ENST00000460531,;TF,upstream_gene_variant,,ENST00000494430,;TF,upstream_gene_variant,,ENST00000485977,;TF,upstream_gene_variant,,ENST00000414694,;TF,upstream_gene_variant,,ENST00000498622,;	433	20	19	SUCCESS
AMOTL2	51421	.	GRCh37	3	134076549	134076549	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	39	0	ENST00000422605.2:c.2338T>G	p.Ter780GlyextTer43	p.*780Gext*43	ENST00000422605		780	Tga/Gga	0	.	.	.	.	.	C	*/G	protein_coding	YES	CCDS33860.1	2341	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCAGATCA	NONE	.	.	.	.	.	ENSP00000249883	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000249883	Transcript	.	.	ENSG00000114019	17812	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMOL2_HUMAN	AMOTL2	HGNC	D6RJA4_HUMAN,D6RIC7_HUMAN,D6RFG0_HUMAN,D6RF61_HUMAN,D6RCL7_HUMAN,D6RBK2_HUMAN,B3KQD2_HUMAN	.	UPI00001B216C	SNV	AMOTL2,stop_lost,p.Ter838GlyextTer43,ENST00000514516,;AMOTL2,stop_lost,p.Ter781GlyextTer43,ENST00000249883,;AMOTL2,stop_lost,p.Ter778GlyextTer43,ENST00000513145,;AMOTL2,stop_lost,p.Ter780GlyextTer43,ENST00000422605,;RPL39P5,upstream_gene_variant,,ENST00000273411,;AMOTL2,non_coding_transcript_exon_variant,,ENST00000506326,;	2655	39	29	SUCCESS
PTX3	5806	.	GRCh37	3	157160183	157160183	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	26	0	ENST00000295927.3:c.561G>A	p.Met187Ile	p.M187I	ENST00000295927	NM_002852.3	187	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3180.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGCGTTC	NONE	.	.	hmmpanther:PTHR19277:SF28,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000295927	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295927	Transcript	.	.	ENSG00000163661	9692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	PTX3_HUMAN	PTX3	HGNC	.	.	UPI000013E2D6	SNV	PTX3,missense_variant,p.Met187Ile,ENST00000295927,;VEPH1,intron_variant,,ENST00000362010,;VEPH1,intron_variant,,ENST00000392833,;VEPH1,intron_variant,,ENST00000392832,;VEPH1,intron_variant,,ENST00000543418,;VEPH1,intron_variant,,ENST00000479987,;	706	26	32	SUCCESS
SI	6476	.	GRCh37	3	164737493	164737493	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	79	0	ENST00000264382.3:c.3320C>A	p.Pro1107Gln	p.P1107Q	ENST00000264382	NM_001041.3	1107	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS3196.1	3320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGGCAGG	BUFFER|p.R1105C|c.3313C>T|3	.	.	Superfamily_domains:SSF74650	.	.	ENSP00000264382	.	28/48	.	.	.	.	.	.	.	.	.	28/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Pro1107Gln,ENST00000264382,;	3383	79	69	SUCCESS
TP63	8626	.	GRCh37	3	189526152	189526152	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751300168	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	57	0	ENST00000264731.3:c.416C>T	p.Ala139Val	p.A139V	ENST00000264731	NM_003722.4	139	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3293.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCGCAGA	NONE	.	.	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8	.	.	ENSP00000264731	.	4/14	.	.	.	.	.	.	.	.	rs751300168	4/14	PASS	ENST00000264731	Transcript	.	.	ENSG00000073282	15979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0.01)	.	P63_HUMAN	TP63	HGNC	.	.	UPI0000073CF2	SNV	TP63,missense_variant,p.Ala45Val,ENST00000392461,;TP63,missense_variant,p.Ala45Val,ENST00000434928,;TP63,missense_variant,p.Ala45Val,ENST00000354600,;TP63,missense_variant,p.Ala45Val,ENST00000456148,;TP63,missense_variant,p.Ala139Val,ENST00000392460,;TP63,missense_variant,p.Ala139Val,ENST00000320472,;TP63,missense_variant,p.Ala139Val,ENST00000440651,;TP63,missense_variant,p.Ala139Val,ENST00000264731,;TP63,missense_variant,p.Ala139Val,ENST00000418709,;TP63,missense_variant,p.Ala45Val,ENST00000437221,;TP63,missense_variant,p.Ala45Val,ENST00000392463,;TP63,intron_variant,,ENST00000449992,;TP63,intron_variant,,ENST00000382063,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;	505	57	52	SUCCESS
PRSS50	29122	.	GRCh37	3	46755757	46755757	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	28	0	ENST00000315170.7:c.705G>T	p.Lys235Asn	p.K235N	ENST00000315170	NM_013270.4	235	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS2745.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCCTTCAA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF6,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000418875	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000460241	Transcript	.	.	ENSG00000206549	17910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.01)	.	TSP50_HUMAN	PRSS50	HGNC	B3KUP4_HUMAN	.	UPI0000037465	SNV	PRSS50,missense_variant,p.Lys235Asn,ENST00000315170,;PRSS50,missense_variant,p.Lys235Asn,ENST00000460241,;TMIE,downstream_gene_variant,,ENST00000326431,;	2376	28	36	SUCCESS
NBEAL2	23218	.	GRCh37	3	47040281	47040281	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	41	0	ENST00000450053.3:c.3296A>G	p.Glu1099Gly	p.E1099G	ENST00000450053	NM_015175.2	1099	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS46817.1	3296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGAGTTCC	NONE	.	.	hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	.	.	ENSP00000415034	.	23/54	.	.	.	.	.	.	.	.	.	23/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.573)	.	tolerated(0.08)	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,missense_variant,p.Glu1099Gly,ENST00000450053,;NBEAL2,missense_variant,p.Glu571Gly,ENST00000416683,;NBEAL2,missense_variant,p.Glu1099Gly,ENST00000292309,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	3475	42	29	SUCCESS
SETD2	29072	.	GRCh37	3	47164729	47164729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	68	0	ENST00000409792.3:c.1397A>G	p.Lys466Arg	p.K466R	ENST00000409792	NM_014159.6	466	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS2749.2	1397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTTATAC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(1)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Lys466Arg,ENST00000409792,;SETD2,missense_variant,p.Lys422Arg,ENST00000412450,;SETD2,missense_variant,p.Lys100Arg,ENST00000445387,;SETD2,missense_variant,p.Lys338Arg,ENST00000330022,;SETD2,missense_variant,p.Lys184Arg,ENST00000431180,;	1440	68	45	SUCCESS
STAB1	23166	.	GRCh37	3	52547186	52547186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	136	2	ENST00000321725.6:c.3199G>T	p.Ala1067Ser	p.A1067S	ENST00000321725	NM_015136.2	1067	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33768.1	3199	RADIA|SOMATICSNIPER|VARSCANS	.	AGCTGGCCCGG	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50213	.	.	ENSP00000312946	.	30/69	.	.	.	.	.	.	.	.	.	30/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.042)	.	tolerated(0.56)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ala1067Ser,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	3275	138	104	SUCCESS
CHDH	55349	.	GRCh37	3	53851908	53851908	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	84	0	ENST00000315251.6:c.1681A>G	p.Ile561Val	p.I561V	ENST00000315251	NM_018397.4	561	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2873.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATTGTGG	NONE	.	.	hmmpanther:PTHR11552,hmmpanther:PTHR11552:SF14,Pfam_domain:PF05199,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000137,Superfamily_domains:SSF51905	.	.	ENSP00000319851	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000315251	Transcript	.	.	ENSG00000016391	24288	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.06)	.	CHDH_HUMAN	CHDH	HGNC	C9JYW4_HUMAN,C9J7D8_HUMAN,B4DMQ4_HUMAN	.	UPI000013C538	SNV	CHDH,missense_variant,p.Ile561Val,ENST00000315251,;CACNA1D,downstream_gene_variant,,ENST00000288139,;	2119	84	51	SUCCESS
CPNE9	151835	.	GRCh37	3	9759770	9759770	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs560497816	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	54	0	ENST00000383832.3:c.989A>G	p.Tyr330Cys	p.Y330C	ENST00000383832	NM_153635.2	330	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2574.2	989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTATGCCA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10857:SF10,hmmpanther:PTHR10857,Pfam_domain:PF07002,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000373343	.	16/21	.	.	.	.	.	.	.	.	rs560497816	16/21	PASS	ENST00000383832	Transcript	.	.	ENSG00000144550	24336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CPNE9_HUMAN	CPNE9	HGNC	.	.	UPI0000412048	SNV	CPNE9,missense_variant,p.Tyr330Cys,ENST00000383832,;CPNE9,missense_variant,p.Tyr62Cys,ENST00000273027,;CPNE9,missense_variant,p.Tyr330Cys,ENST00000383831,;	1179	54	38	SUCCESS
CFI	3426	.	GRCh37	4	110682850	110682850	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	28	0	ENST00000394634.2:c.483-2A>T		p.X161_splice	ENST00000394634	NM_000204.3	161		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34049.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTGCAAA	NONE	.	.	.	.	.	ENSP00000378130	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	HIGH	3/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,splice_acceptor_variant,,ENST00000394634,;CFI,splice_acceptor_variant,,ENST00000512148,;CFI,splice_acceptor_variant,,ENST00000394635,;CFI,downstream_gene_variant,,ENST00000510800,;CFI,non_coding_transcript_exon_variant,,ENST00000504853,;	.	28	14	SUCCESS
NPY5R	4889	.	GRCh37	4	164272303	164272303	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146231711	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	54	0	ENST00000338566.3:c.878C>T	p.Thr293Ile	p.T293I	ENST00000338566	NM_006174.2	293	aCa/aTa	0	T:0.0002	.	.	.	.	T	T/I	protein_coding	YES	CCDS3804.1	878	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACAGCAT	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Pfam_domain:PF00001,Prints_domain:PR01016	.	T:0	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	rs146231711	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	tolerated(0.05)	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,missense_variant,p.Thr293Ile,ENST00000506953,;NPY5R,missense_variant,p.Thr293Ile,ENST00000515560,;NPY5R,missense_variant,p.Thr293Ile,ENST00000338566,;	2400	54	14	SUCCESS
HELT	391723	.	GRCh37	4	185941802	185941802	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	12	10	0	ENST00000515777.1:c.605C>T	p.Ala202Val	p.A202V	ENST00000515777		202	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34113.1	860	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCCAGCGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF8	.	.	ENSP00000343464	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000338875	Transcript	.	.	ENSG00000187821	33783	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.222)	.	tolerated(0.08)	.	HELT_HUMAN	HELT	HGNC	.	.	UPI0000419186	SNV	HELT,missense_variant,p.Ala202Val,ENST00000515777,;HELT,missense_variant,p.Ala287Val,ENST00000338875,;HELT,missense_variant,p.Ala201Val,ENST00000505610,;HELT,non_coding_transcript_exon_variant,,ENST00000513599,;	860	10	14	SUCCESS
GUF1	60558	.	GRCh37	4	44693809	44693809	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	54	0	ENST00000281543.5:c.1606T>C	p.Tyr536His	p.Y536H	ENST00000281543	NM_021927.2	536	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS3468.1	1606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGATATGCT	NONE	.	.	Superfamily_domains:SSF54980,Gene3D:3.30.70.240,Pfam_domain:PF00679,TIGRFAM_domain:TIGR01393,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF97,HAMAP:MF_00071	.	.	ENSP00000281543	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000281543	Transcript	.	.	ENSG00000151806	25799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	GUF1_HUMAN	GUF1	HGNC	.	.	UPI000006FFEC	SNV	GUF1,missense_variant,p.Tyr536His,ENST00000281543,;GNPDA2,intron_variant,,ENST00000609092,;GNPDA2,intron_variant,,ENST00000608855,;RP11-700J17.1,downstream_gene_variant,,ENST00000610260,;GUF1,non_coding_transcript_exon_variant,,ENST00000506793,;GUF1,upstream_gene_variant,,ENST00000511493,;GUF1,downstream_gene_variant,,ENST00000513775,;	1800	54	37	SUCCESS
NFXL1	152518	.	GRCh37	4	47850329	47850329	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	33	134	0	ENST00000507489.1:c.2587A>T	p.Arg863Ter	p.R863*	ENST00000507489	NM_001278624.1	863	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS3478.2	2587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTGTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1	.	.	ENSP00000422037	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,stop_gained,p.Arg863Ter,ENST00000381538,;NFXL1,stop_gained,p.Arg863Ter,ENST00000507489,;RP11-121C2.2,upstream_gene_variant,,ENST00000563286,;NFXL1,3_prime_UTR_variant,,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000502448,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;NFXL1,downstream_gene_variant,,ENST00000511452,;NFXL1,downstream_gene_variant,,ENST00000508115,;	2764	134	106	SUCCESS
WFS1	7466	.	GRCh37	4	6303650	6303650	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	29	0	ENST00000226760.1:c.2128A>C	p.Thr710Pro	p.T710P	ENST00000226760	NM_001145853.1	710	Act/Cct	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS3386.1	2128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGACTGAC	NONE	.	.	hmmpanther:PTHR13098	.	.	ENSP00000226760	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000226760	Transcript	1	.	ENSG00000109501	12762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0.01)	.	WFS1_HUMAN	WFS1	HGNC	B4DJ99_HUMAN	.	UPI00000715C3	SNV	WFS1,missense_variant,p.Thr710Pro,ENST00000503569,;WFS1,missense_variant,p.Thr710Pro,ENST00000226760,;WFS1,downstream_gene_variant,,ENST00000506362,;WFS1,non_coding_transcript_exon_variant,,ENST00000507765,;WFS1,downstream_gene_variant,,ENST00000513395,;	2298	29	31	SUCCESS
FRAS1	80144	.	GRCh37	4	79295351	79295351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	19	56	0	ENST00000264895.6:c.3097G>T	p.Val1033Phe	p.V1033F	ENST00000264895	NM_025074.6	1033	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS54771.1	3097	RADIA|MUTECT|MUSE	.	AGTGTGTCCAG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184	.	.	ENSP00000264895	.	25/74	.	.	.	.	.	.	.	.	.	25/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.835)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Val1033Phe,ENST00000325942,;FRAS1,missense_variant,p.Val1033Phe,ENST00000264895,;MINOS1P4,upstream_gene_variant,,ENST00000515470,;	3537	56	31	SUCCESS
DSPP	1834	.	GRCh37	4	88535262	88535262	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	21	84	0	ENST00000282478.7:c.1448A>G	p.Asn483Ser	p.N483S	ENST00000282478		483	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43248.1	1448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAATAACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093	.	.	ENSP00000382213	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,missense_variant,p.Asn483Ser,ENST00000282478,;DSPP,missense_variant,p.Asn483Ser,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	1568	84	32	SUCCESS
SLCO6A1	133482	.	GRCh37	5	101813521	101813521	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868479532	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	85	0	ENST00000379807.3:c.661G>A	p.Gly221Ser	p.G221S	ENST00000379807	NM_173488.3	221	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS34206.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACCACTGC	NONE	.	.	hmmpanther:PTHR11388:SF3,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137	.	.	ENSP00000421339	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000506729	Transcript	.	.	ENSG00000205359	23613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.75)	.	SO6A1_HUMAN	SLCO6A1	HGNC	H0Y8R6_HUMAN,D3DSZ4_HUMAN	.	UPI000020C392	SNV	SLCO6A1,missense_variant,p.Gly221Ser,ENST00000379807,;SLCO6A1,missense_variant,p.Gly221Ser,ENST00000506729,;SLCO6A1,intron_variant,,ENST00000513675,;SLCO6A1,intron_variant,,ENST00000379810,;SLCO6A1,intron_variant,,ENST00000389019,;SLCO6A1,intron_variant,,ENST00000505407,;SLCO6A1,intron_variant,,ENST00000514551,;SLCO6A1,upstream_gene_variant,,ENST00000505739,;	833	85	23	SUCCESS
AQPEP	0	.	GRCh37	5	115323605	115323605	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	166	0	ENST00000357872.4:c.1074G>C	p.Leu358Phe	p.L358F	ENST00000357872	NM_173800.4	358	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS4124.1	1074	RADIA|MUTECT|MUSE|VARSCANS	.	GATTTGTTTAA	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533	.	.	ENSP00000350541	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000357872	Transcript	.	.	ENSG00000172901	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	AMPQ_HUMAN	AQPEP	Uniprot_gn	.	.	UPI0000457329	SNV	AQPEP,missense_variant,p.Leu358Phe,ENST00000357872,;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,missense_variant,p.Leu358Phe,ENST00000504467,;	1198	166	82	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215989	140215989	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs370529939	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	25	0	ENST00000525929.1:c.2021A>T	p.Gln674Leu	p.Q674L	ENST00000525929	NM_018910.2	674	cAg/cTg	0	G:0	.	.	.	.	T	Q/L	protein_coding	YES	CCDS54918.1	2021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCAGGCAC	NONE	byFrequency|byCluster	.	SMART_domains:SM00112,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	G:0.0001	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	rs370529939	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	deleterious_low_confidence(0.02)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Gln674Leu,ENST00000378125,;PCDHA7,missense_variant,p.Gln674Leu,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA8,upstream_gene_variant,,ENST00000531613,;PCDHA8,upstream_gene_variant,,ENST00000378123,;	2021	25	22	SUCCESS
PCDHB10	56126	.	GRCh37	5	140573688	140573688	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs782426653	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	63	0	ENST00000239446.4:c.1563C>A	p.Tyr521Ter	p.Y521*	ENST00000239446	NM_018930.3	521	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS4252.1	1563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTACGAGGC	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	rs782426653	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,stop_gained,p.Tyr521Ter,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	1747	63	53	SUCCESS
PCDH1	5097	.	GRCh37	5	141242953	141242953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	56	0	ENST00000394536.3:c.2943G>T	p.Gln981His	p.Q981H	ENST00000394536	NM_002587.4	981	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS4267.1	2943	RADIA|VARSCANS	.	TGGGGCTGCAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF08374,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027	.	.	ENSP00000287008	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.38)	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,missense_variant,p.Gln959His,ENST00000536585,;PCDH1,missense_variant,p.Gln969His,ENST00000456271,;PCDH1,missense_variant,p.Gln981His,ENST00000287008,;PCDH1,missense_variant,p.Gln981His,ENST00000394536,;PCDH1,missense_variant,p.Gln992His,ENST00000357517,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,downstream_gene_variant,,ENST00000505937,;	3091	56	35	SUCCESS
MGAT4B	11282	.	GRCh37	5	179225293	179225293	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	13	0	ENST00000292591.7:c.1511-16C>T		p.*504*	ENST00000292591	NM_014275.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4449.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGGTGAG	NONE	.	.	.	.	.	ENSP00000338487	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337755	Transcript	.	.	ENSG00000161013	7048	.	.	MODIFIER	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT4B_HUMAN	MGAT4B	HGNC	E5RFS3_HUMAN	.	UPI000015F50B	SNV	MGAT4B,intron_variant,,ENST00000520875,;MGAT4B,intron_variant,,ENST00000518778,;MGAT4B,intron_variant,,ENST00000292591,;MGAT4B,intron_variant,,ENST00000519836,;MGAT4B,intron_variant,,ENST00000520969,;MGAT4B,intron_variant,,ENST00000518980,;MGAT4B,intron_variant,,ENST00000337755,;LTC4S,downstream_gene_variant,,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000518867,;LTC4S,downstream_gene_variant,,ENST00000292596,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,mature_miRNA_variant,,ENST00000408467,;MGAT4B,intron_variant,,ENST00000523382,;MGAT4B,intron_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000519616,;MAML1,downstream_gene_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,downstream_gene_variant,,ENST00000520134,;MGAT4B,intron_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000518168,;LTC4S,downstream_gene_variant,,ENST00000505170,;MGAT4B,downstream_gene_variant,,ENST00000523329,;MGAT4B,downstream_gene_variant,,ENST00000521855,;LTC4S,downstream_gene_variant,,ENST00000465572,;MGAT4B,downstream_gene_variant,,ENST00000520918,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000520822,;LTC4S,downstream_gene_variant,,ENST00000486713,;MGAT4B,downstream_gene_variant,,ENST00000518702,;LTC4S,downstream_gene_variant,,ENST00000509898,;	.	13	16	SUCCESS
SEPP1	0	.	GRCh37	5	42806794	42806794	+	intron_variant	Intron	SNP	T	T	C	rs565304723	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	11	0	ENST00000506577.1:c.416+204A>G		p.*139*	ENST00000506577				0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS43311.1	.	MUTECT|MUSE	.	TGTCATAGAAA	NONE	by1000G	.	.	C:0	.	ENSP00000420939	C:0	.	.	.	.	.	.	.	.	.	rs565304723	.	PASS	ENST00000514985	Transcript	.	C:0.0002	ENSG00000250722	10751	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.001	.	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,intron_variant,,ENST00000506577,;SEPP1,intron_variant,,ENST00000510965,;SEPP1,intron_variant,,ENST00000507920,;SEPP1,intron_variant,,ENST00000511224,;SEPP1,intron_variant,,ENST00000514218,;SEPP1,intron_variant,,ENST00000514985,;CCDC152,downstream_gene_variant,,ENST00000361970,;CTD-2325A15.5,non_coding_transcript_exon_variant,,ENST00000606056,;SEPP1,intron_variant,,ENST00000513303,;SEPP1,intron_variant,,ENST00000509276,;SEPP1,downstream_gene_variant,,ENST00000515626,;SEPP1,non_coding_transcript_exon_variant,,ENST00000506078,;SEPP1,non_coding_transcript_exon_variant,,ENST00000512980,;SEPP1,non_coding_transcript_exon_variant,,ENST00000510650,;SEPP1,intron_variant,,ENST00000514403,;SEPP1,intron_variant,,ENST00000505309,;SEPP1,downstream_gene_variant,,ENST00000508937,;	.	11	10	SUCCESS
GPR98	0	.	GRCh37	5	89948314	89948314	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780302289	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	38	143	0	ENST00000405460.2:c.3568C>T	p.His1190Tyr	p.H1190Y	ENST00000405460	NM_032119.3	1190	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS47246.1	3568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCATGCT	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	19/90	.	.	.	.	.	.	.	.	rs780302289	19/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.His1190Tyr,ENST00000405460,;GPR98,missense_variant,p.His779Tyr,ENST00000504142,;	3664	143	70	SUCCESS
ASCC3	10973	.	GRCh37	6	101166124	101166124	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	69	0	ENST00000369162.2:c.1906G>A	p.Glu636Lys	p.E636K	ENST00000369162	NM_006828.2	636	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5046.1	1906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATTCCACCT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000358159	.	12/42	.	.	.	.	.	.	.	.	.	12/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Glu636Lys,ENST00000369162,;ASCC3,missense_variant,p.Glu636Lys,ENST00000522650,;ASCC3,3_prime_UTR_variant,,ENST00000324696,;	2251	69	46	SUCCESS
TAAR1	134864	.	GRCh37	6	132966704	132966704	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs982989326	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	73	0	ENST00000275216.1:c.439A>G	p.Ser147Gly	p.S147G	ENST00000275216	NM_138327.1	147	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS5158.1	439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTAATGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF220,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000275216	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000275216	Transcript	.	.	ENSG00000146399	17734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.327)	.	tolerated(0.1)	.	TAAR1_HUMAN	TAAR1	HGNC	.	.	UPI000000D874	SNV	TAAR1,missense_variant,p.Ser147Gly,ENST00000275216,;	439	73	47	SUCCESS
THBS2	7058	.	GRCh37	6	169637837	169637837	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs577676627	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	22	0	ENST00000366787.3:c.1183G>A	p.Val395Met	p.V395M	ENST00000366787	NM_003247.2	395	Gtg/Atg	0	.	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS34574.1	1183	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCACGGAGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50092,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	T:0.001	.	ENSP00000355751	T:0	9/23	.	.	.	.	.	.	.	.	rs577676627,COSM3697676	9/23	PASS	ENST00000366787	Transcript	.	T:0.0002	ENSG00000186340	11786	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.836)	T:0	deleterious(0.01)	0,1	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,missense_variant,p.Val395Met,ENST00000366787,;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,upstream_gene_variant,,ENST00000461848,;	1433	22	18	SUCCESS
DDR1	780	.	GRCh37	6	30866689	30866689	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771341445	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	75	0	ENST00000324771.8:c.2476G>T	p.Val826Leu	p.V826L	ENST00000324771		826	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS47396.1	2494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACGTGTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF65,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000365759	.	19/20	.	.	.	.	.	.	.	.	rs771341445	19/20	PASS	ENST00000376575	Transcript	.	.	ENSG00000204580	2730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	deleterious(0)	.	DDR1_HUMAN	DDR1	HGNC	E7EXB0_HUMAN,E7EX99_HUMAN,E7EVW6_HUMAN,E7EVT1_HUMAN,E7EUD5_HUMAN,E7ETX3_HUMAN,E7ETI3_HUMAN,E7ESR9_HUMAN,E7ES06_HUMAN,E7ERN0_HUMAN,E7ERI6_HUMAN,E7EQ30_HUMAN,E7EQ23_HUMAN,E7EPN2_HUMAN,E7EPH4_HUMAN,E7ENJ2_HUMAN,E7EN94_HUMAN,D6RGW5_HUMAN,D6RBU7_HUMAN,D6RB82_HUMAN,D6RB35_HUMAN,D6R9C4_HUMAN,A2ABL2_HUMAN,A2ABL0_HUMAN	.	UPI0000146C6D	SNV	DDR1,missense_variant,p.Val789Leu,ENST00000376567,;DDR1,missense_variant,p.Val807Leu,ENST00000508312,;DDR1,missense_variant,p.Val832Leu,ENST00000376575,;DDR1,missense_variant,p.Val789Leu,ENST00000376569,;DDR1,missense_variant,p.Val789Leu,ENST00000418800,;DDR1,missense_variant,p.Val826Leu,ENST00000324771,;DDR1,missense_variant,p.Val826Leu,ENST00000376568,;DDR1,missense_variant,p.Val832Leu,ENST00000513240,;DDR1,missense_variant,p.Val789Leu,ENST00000376570,;DDR1,missense_variant,p.Val183Leu,ENST00000484556,;DDR1,missense_variant,p.Val826Leu,ENST00000452441,;DDR1,missense_variant,p.Val789Leu,ENST00000454612,;DDR1,3_prime_UTR_variant,,ENST00000446312,;DDR1,intron_variant,,ENST00000361741,;DDR1,downstream_gene_variant,,ENST00000417521,;DDR1,downstream_gene_variant,,ENST00000514434,;DDR1,downstream_gene_variant,,ENST00000513514,;DDR1,downstream_gene_variant,,ENST00000465966,;DDR1,3_prime_UTR_variant,,ENST00000482873,;	2827	75	71	SUCCESS
ITPR3	3710	.	GRCh37	6	33639857	33639857	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	31	0	ENST00000374316.5:c.2780T>C	p.Met927Thr	p.M927T	ENST00000374316		927	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS4783.1	2780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATGGTGC	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	23/59	.	.	.	.	.	.	.	.	.	23/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	deleterious(0.02)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Met927Thr,ENST00000374316,;ITPR3,missense_variant,p.Met927Thr,ENST00000605930,;	3840	31	28	SUCCESS
TDRD6	221400	.	GRCh37	6	46660241	46660241	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	35	1	ENST00000316081.6:c.4376A>T	p.Glu1459Val	p.E1459V	ENST00000316081	NM_001010870.2	1459	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34470.1	4376	SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGAAGTTA	NONE	.	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	.	.	ENSP00000346065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000316081	Transcript	.	.	ENSG00000180113	21339	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	TDRD6_HUMAN	TDRD6	HGNC	.	.	UPI0000251E8A	SNV	TDRD6,missense_variant,p.Glu1459Val,ENST00000316081,;TDRD6,missense_variant,p.Glu1459Val,ENST00000544460,;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;	4376	36	30	SUCCESS
MUT	0	.	GRCh37	6	49427174	49427174	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	26	0	ENST00000274813.3:c.6A>T	p.Leu2Phe	p.L2F	ENST00000274813	NM_000255.3	2	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4924.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTTAACAT	NONE	.	.	.	.	.	ENSP00000274813	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious_low_confidence(0.01)	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,missense_variant,p.Leu2Phe,ENST00000274813,;CENPQ,upstream_gene_variant,,ENST00000335783,;	134	26	17	SUCCESS
RPP40	10799	.	GRCh37	6	5000046	5000050	+	frameshift_variant	Frame_Shift_Del	DEL	ATTTC	ATTTC	-	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	ATTTC	ATTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	73	0	ENST00000380051.2:c.426_430del	p.Met142IlefsTer6	p.M142Ifs*6	ENST00000380051	NM_006638.2	142	atGAAATtt/attt	0	.	.	.	.	.	-	MKF/IX	protein_coding	YES	CCDS34333.1	426-430	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTAAATTTCATAAT	NONE	.	.	hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1,Pfam_domain:PF08584	.	.	ENSP00000369391	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000380051	Transcript	.	.	ENSG00000124787	20992	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPP40_HUMAN	RPP40	HGNC	.	.	UPI000020E473	deletion	RPP40,frameshift_variant,p.Met119IlefsTer6,ENST00000319533,;RPP40,frameshift_variant,p.Met82IlefsTer6,ENST00000464646,;RPP40,frameshift_variant,p.Met142IlefsTer6,ENST00000380051,;RPP40,3_prime_UTR_variant,,ENST00000479782,;RPP40,non_coding_transcript_exon_variant,,ENST00000468105,;RPP40,downstream_gene_variant,,ENST00000483546,;	471-475	73	53	SUCCESS
TFAP2D	83741	.	GRCh37	6	50740396	50740396	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	58	1	ENST00000008391.3:c.1178C>T	p.Ala393Val	p.A393V	ENST00000008391	NM_172238.3	393	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4933.1	1178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGCAGCTC	NONE	.	.	Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5	.	.	ENSP00000008391	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,missense_variant,p.Ala393Val,ENST00000008391,;	1406	59	46	SUCCESS
KHDC3L	154288	.	GRCh37	6	74072885	74072885	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	40	0	ENST00000370367.3:c.237G>T	p.Leu79Phe	p.L79F	ENST00000370367	NM_001017361.2	79	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS34484.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATTGGACCC	NONE	.	.	Superfamily_domains:SSF54791,Gene3D:3.30.1370.10,hmmpanther:PTHR19447:SF5,hmmpanther:PTHR19447	.	.	ENSP00000359392	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370367	Transcript	.	.	ENSG00000203908	33699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.441)	.	deleterious(0.01)	.	KHD3L_HUMAN	KHDC3L	HGNC	.	.	UPI00001D8131	SNV	KHDC3L,missense_variant,p.Leu79Phe,ENST00000370367,;	290	40	29	SUCCESS
KHDC3L	154288	.	GRCh37	6	74072886	74072886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	40	0	ENST00000370367.3:c.238G>T	p.Asp80Tyr	p.D80Y	ENST00000370367	NM_001017361.2	80	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS34484.1	238	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GATTGGACCCT	NONE	.	.	Superfamily_domains:SSF54791,Gene3D:3.30.1370.10,hmmpanther:PTHR19447:SF5,hmmpanther:PTHR19447	.	.	ENSP00000359392	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370367	Transcript	.	.	ENSG00000203908	33699	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	KHD3L_HUMAN	KHDC3L	HGNC	.	.	UPI00001D8131	SNV	KHDC3L,missense_variant,p.Asp80Tyr,ENST00000370367,;	291	40	29	SUCCESS
IMPG1	3617	.	GRCh37	6	76720891	76720891	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	106	0	ENST00000369950.3:c.858A>T	p.Leu286Phe	p.L286F	ENST00000369950	NM_001563.2	286	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4985.1	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTAACAC	NONE	.	.	PROSITE_profiles:PS50024,hmmpanther:PTHR12199,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452	.	.	ENSP00000358966	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000369950	Transcript	.	.	ENSG00000112706	6055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	IMPG1_HUMAN	IMPG1	HGNC	H0UI08_HUMAN	.	UPI0000073F12	SNV	IMPG1,missense_variant,p.Leu286Phe,ENST00000369950,;IMPG1,3_prime_UTR_variant,,ENST00000369963,;	1048	106	77	SUCCESS
MAP3K7	6885	.	GRCh37	6	91269811	91269811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	153	0	ENST00000369329.3:c.466G>T	p.Asp156Tyr	p.D156Y	ENST00000369329	NM_145331.2	156	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5028.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCCTGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR26392,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF038168,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000358335	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000369329	Transcript	.	.	ENSG00000135341	6859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	M3K7_HUMAN	MAP3K7	HGNC	.	.	UPI000012EAD6	SNV	MAP3K7,missense_variant,p.Asp156Tyr,ENST00000369325,;MAP3K7,missense_variant,p.Asp156Tyr,ENST00000369329,;MAP3K7,missense_variant,p.Asp156Tyr,ENST00000369332,;MAP3K7,missense_variant,p.Asp156Tyr,ENST00000369327,;	628	153	84	SUCCESS
EPHA7	2045	.	GRCh37	6	94120578	94120578	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1286516366	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	119	0	ENST00000369303.4:c.473G>A	p.Gly158Asp	p.G158D	ENST00000369303	NM_004440.3	158	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS5031.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACCTTGG	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000358309	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.42)	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,missense_variant,p.Gly158Asp,ENST00000369303,;EPHA7,missense_variant,p.Gly158Asp,ENST00000369297,;	658	119	76	SUCCESS
LRCH4	4034	.	GRCh37	7	100172744	100172744	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769269118	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	33	0	ENST00000310300.6:c.2038C>A	p.Leu680Ile	p.L680I	ENST00000310300	NM_002319.3	680	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS34706.1	2038	RADIA|VARSCANS	.	CAGGAGCCGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000309689	.	18/18	.	.	.	.	.	.	.	.	rs769269118	18/18	PASS	ENST00000310300	Transcript	.	.	ENSG00000077454	6691	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.01)	.	LRCH4_HUMAN	LRCH4	HGNC	C9JYK0_HUMAN	.	UPI00000714CE	SNV	LRCH4,missense_variant,p.Leu680Ile,ENST00000310300,;LRCH4,missense_variant,p.Leu228Ile,ENST00000497245,;LRCH4,intron_variant,,ENST00000485554,;SAP25,upstream_gene_variant,,ENST00000538735,;LRCH4,non_coding_transcript_exon_variant,,ENST00000485071,;LRCH4,non_coding_transcript_exon_variant,,ENST00000476881,;LRCH4,non_coding_transcript_exon_variant,,ENST00000467201,;LRCH4,downstream_gene_variant,,ENST00000498539,;LRCH4,downstream_gene_variant,,ENST00000487697,;LRCH4,downstream_gene_variant,,ENST00000490359,;RP11-44M6.3,downstream_gene_variant,,ENST00000223076,;	2091	33	27	SUCCESS
RINT1	60561	.	GRCh37	7	105189009	105189009	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	77	0	ENST00000257700.2:c.848T>A	p.Leu283Ter	p.L283*	ENST00000257700	NM_021930.4	283	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS34726.1	848	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATTACTTA	NONE	.	.	PROSITE_profiles:PS51386,hmmpanther:PTHR13520:SF0,hmmpanther:PTHR13520	.	.	ENSP00000257700	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000257700	Transcript	.	.	ENSG00000135249	21876	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RINT1_HUMAN	RINT1	HGNC	.	.	UPI000020F898	SNV	RINT1,stop_gained,p.Leu283Ter,ENST00000257700,;RINT1,downstream_gene_variant,,ENST00000493041,;RINT1,3_prime_UTR_variant,,ENST00000497979,;RINT1,downstream_gene_variant,,ENST00000467392,;RINT1,upstream_gene_variant,,ENST00000474123,;RINT1,downstream_gene_variant,,ENST00000493258,;	1079	77	58	SUCCESS
NUP205	23165	.	GRCh37	7	135300725	135300725	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	77	1	ENST00000285968.6:c.3372A>G	p.Leu1124=	p.L1124=	ENST00000285968	NM_015135.2	1124	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34759.1	3372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTAAGGGT	NONE	.	.	hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	.	.	ENSP00000285968	.	24/43	.	.	.	.	.	.	.	.	.	24/43	PASS	ENST00000285968	Transcript	.	.	ENSG00000155561	18658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU205_HUMAN	NUP205	HGNC	Q6P486_HUMAN,Q6DKH1_HUMAN	.	UPI00001D74D8	SNV	NUP205,synonymous_variant,p.%3D,ENST00000472132,;NUP205,synonymous_variant,p.%3D,ENST00000285968,;NUP205,3_prime_UTR_variant,,ENST00000463247,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,upstream_gene_variant,,ENST00000477620,;	3398	78	44	SUCCESS
ABCA13	154664	.	GRCh37	7	48431663	48431663	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	61	0	ENST00000435803.1:c.11800G>T	p.Glu3934Ter	p.E3934*	ENST00000435803	NM_152701.3	3934	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47584.1	11800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGGAACAT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	38/62	.	.	.	.	.	.	.	.	COSM223165,COSM223166	38/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,stop_gained,p.Glu3934Ter,ENST00000435803,;ABCA13,stop_gained,p.Glu200Ter,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	11824	61	52	SUCCESS
PCLO	27445	.	GRCh37	7	82531973	82531973	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	109	0	ENST00000333891.9:c.13522G>A	p.Val4508Ile	p.V4508I	ENST00000333891	NM_033026.5	4508	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS47630.1	13522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAACTGTGT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Superfamily_domains:SSF50156	.	.	ENSP00000334319	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Val4508Ile,ENST00000333891,;PCLO,missense_variant,p.Val4508Ile,ENST00000423517,;	13860	109	71	SUCCESS
HEPACAM2	253012	.	GRCh37	7	92837990	92837990	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	126	0	ENST00000394468.2:c.915A>T	p.Lys305Asn	p.K305N	ENST00000394468	NM_001039372.1	305	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS43616.1	915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACTTTCTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF125,hmmpanther:PTHR19955,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000377980	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000394468	Transcript	.	.	ENSG00000188175	27364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	deleterious(0.04)	.	HECA2_HUMAN	HEPACAM2	HGNC	.	.	UPI000013DA71	SNV	HEPACAM2,missense_variant,p.Lys305Asn,ENST00000394468,;HEPACAM2,missense_variant,p.Lys293Asn,ENST00000440868,;HEPACAM2,missense_variant,p.Lys328Asn,ENST00000453812,;HEPACAM2,missense_variant,p.Lys293Asn,ENST00000341723,;HEPACAM2,upstream_gene_variant,,ENST00000492616,;	993	126	88	SUCCESS
GATA4	2626	.	GRCh37	8	11615852	11615852	+	synonymous_variant	Silent	SNP	C	C	T	rs778818575	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	39	0	ENST00000335135.4:c.1197C>T	p.Val399=	p.V399=	ENST00000335135	NM_002052.3	399	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5983.1	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTCCTCTC	NONE	.	.	PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154	.	.	ENSP00000334458	.	7/7	.	.	.	.	.	.	.	.	rs778818575	7/7	PASS	ENST00000335135	Transcript	1	.	ENSG00000136574	4173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATA4_HUMAN	GATA4	HGNC	R4GND5_HUMAN,E9PRI5_HUMAN,E9PKS4_HUMAN,B3KUF4_HUMAN,B2ZBW1_HUMAN	.	UPI00001B3DC4	SNV	GATA4,synonymous_variant,p.%3D,ENST00000532059,;GATA4,synonymous_variant,p.%3D,ENST00000335135,;GATA4,synonymous_variant,p.%3D,ENST00000528712,;C8orf49,upstream_gene_variant,,ENST00000525043,;GATA4,downstream_gene_variant,,ENST00000526716,;GATA4,non_coding_transcript_exon_variant,,ENST00000526021,;	1755	39	37	SUCCESS
TRPS1	7227	.	GRCh37	8	116427295	116427295	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	160	1	ENST00000220888.5:c.2802C>A	p.Asn934Lys	p.N934K	ENST00000220888		934	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS6318.2	2841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGTTTAA	NONE	.	.	Superfamily_domains:SSF57716,SMART_domains:SM00401,Gene3D:3.30.50.10,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,PROSITE_profiles:PS50114	.	.	ENSP00000379065	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Asn938Lys,ENST00000520276,;TRPS1,missense_variant,p.Asn934Lys,ENST00000220888,;TRPS1,missense_variant,p.Asn59Lys,ENST00000518018,;TRPS1,missense_variant,p.Asn688Lys,ENST00000519076,;TRPS1,missense_variant,p.Asn947Lys,ENST00000395715,;	3419	162	112	SUCCESS
TAF2	6873	.	GRCh37	8	120795802	120795802	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	65	0	ENST00000378164.2:c.1931A>G	p.Gln644Arg	p.Q644R	ENST00000378164	NM_003184.3	644	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34937.1	1931	MUTECT|VARSCANS	.	CAGCTTGCTCA	NONE	.	.	hmmpanther:PTHR15137	.	.	ENSP00000367406	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000378164	Transcript	1	.	ENSG00000064313	11536	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TAF2_HUMAN	TAF2	HGNC	.	.	UPI0000210507	SNV	TAF2,missense_variant,p.Gln644Arg,ENST00000378164,;TAF2,downstream_gene_variant,,ENST00000523904,;	2230	65	47	SUCCESS
GPR124	0	.	GRCh37	8	37691506	37691506	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1349845190	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	49	0	ENST00000412232.2:c.1468A>G	p.Met490Val	p.M490V	ENST00000412232	NM_032777.9	490	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS6097.2	1468	RADIA|MUTECT|VARSCANS	.	TGGACATGGCC	NONE	.	.	hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011	.	.	ENSP00000406367	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.93)	.	tolerated(0.06)	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,missense_variant,p.Met490Val,ENST00000412232,;GPR124,missense_variant,p.Met490Val,ENST00000315215,;GPR124,downstream_gene_variant,,ENST00000428068,;	1481	49	40	SUCCESS
ADAM18	8749	.	GRCh37	8	39505913	39505913	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	10	137	0	ENST00000265707.5:c.1097G>C	p.Arg366Thr	p.R366T	ENST00000265707	NM_014237.2	366	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS6113.1	1097	MUTECT|MUSE	.	CTATAGATATT	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000265707	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.038)	.	tolerated(0.07)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Arg366Thr,ENST00000265707,;ADAM18,missense_variant,p.Arg342Thr,ENST00000379866,;ADAM18,intron_variant,,ENST00000541111,;ADAM18,intron_variant,,ENST00000520087,;	1142	137	146	SUCCESS
ADAM18	8749	.	GRCh37	8	39505935	39505935	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	10	152	0	ENST00000265707.5:c.1119G>A	p.Glu373=	p.E373=	ENST00000265707	NM_014237.2	373	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS6113.1	1119	MUTECT|MUSE	.	TTTGAGACTAA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000265707	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,synonymous_variant,p.%3D,ENST00000265707,;ADAM18,synonymous_variant,p.%3D,ENST00000379866,;ADAM18,intron_variant,,ENST00000541111,;ADAM18,intron_variant,,ENST00000520087,;	1164	152	143	SUCCESS
ZFHX4	79776	.	GRCh37	8	77768145	77768145	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779366252	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	52	0	ENST00000521891.2:c.8988G>A	p.Met2996Ile	p.M2996I	ENST00000521891	NM_024721.4	2996	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS47878.2	8988	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATGATCAA	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	10/11	.	.	.	.	.	.	.	.	rs779366252	10/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,missense_variant,p.Met2951Ile,ENST00000455469,;ZFHX4,missense_variant,p.Met2970Ile,ENST00000518282,;ZFHX4,missense_variant,p.Met2951Ile,ENST00000050961,;ZFHX4,missense_variant,p.Met2996Ile,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	9436	52	50	SUCCESS
TNKS	8658	.	GRCh37	8	9538246	9538246	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	41	130	0	ENST00000310430.6:c.1043A>T	p.Glu348Val	p.E348V	ENST00000310430	NM_003747.2	348	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS5974.1	1043	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGAAGAAA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24180:SF3,hmmpanther:PTHR24180,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000311579	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000310430	Transcript	.	.	ENSG00000173273	11941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	tolerated(0.27)	.	TNKS1_HUMAN	TNKS	HGNC	Q59FX0_HUMAN,E7EQ52_HUMAN	.	UPI000013F00D	SNV	TNKS,missense_variant,p.Glu348Val,ENST00000520408,;TNKS,missense_variant,p.Glu111Val,ENST00000518281,;TNKS,missense_variant,p.Glu348Val,ENST00000310430,;TNKS,non_coding_transcript_exon_variant,,ENST00000518027,;TNKS,non_coding_transcript_exon_variant,,ENST00000519392,;TNKS,non_coding_transcript_exon_variant,,ENST00000517989,;TNKS,non_coding_transcript_exon_variant,,ENST00000521039,;	1069	130	108	SUCCESS
TNKS	8658	.	GRCh37	8	9567850	9567850	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	19	0	ENST00000310430.6:c.1749+120G>T		p.*583*	ENST00000310430	NM_003747.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5974.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGTACTT	NONE	.	.	.	.	.	ENSP00000311579	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310430	Transcript	.	.	ENSG00000173273	11941	.	.	MODIFIER	11/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNKS1_HUMAN	TNKS	HGNC	Q59FX0_HUMAN,E7EQ52_HUMAN	.	UPI000013F00D	SNV	TNKS,3_prime_UTR_variant,,ENST00000520408,;TNKS,intron_variant,,ENST00000518281,;TNKS,intron_variant,,ENST00000310430,;TNKS,downstream_gene_variant,,ENST00000518027,;TNKS,downstream_gene_variant,,ENST00000519392,;TNKS,downstream_gene_variant,,ENST00000517989,;	.	19	16	SUCCESS
TSTD2	158427	.	GRCh37	9	100365038	100365038	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1309622476	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	83	0	ENST00000341170.4:c.1264T>C	p.Cys422Arg	p.C422R	ENST00000341170	NM_139246.4	422	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS6727.2	1264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGTATG	NONE	.	.	hmmpanther:PTHR18838:SF19,hmmpanther:PTHR18838	.	.	ENSP00000342499	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000341170	Transcript	.	.	ENSG00000136925	30087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TSTD2_HUMAN	TSTD2	HGNC	.	.	UPI00002114B8	SNV	TSTD2,missense_variant,p.Cys422Arg,ENST00000341170,;TMOD1,downstream_gene_variant,,ENST00000375175,;TMOD1,downstream_gene_variant,,ENST00000259365,;TMOD1,downstream_gene_variant,,ENST00000395211,;TSTD2,downstream_gene_variant,,ENST00000354801,;TSTD2,3_prime_UTR_variant,,ENST00000375172,;TSTD2,non_coding_transcript_exon_variant,,ENST00000375173,;TSTD2,downstream_gene_variant,,ENST00000375165,;	1647	83	57	SUCCESS
C9orf156	0	.	GRCh37	9	100667207	100667207	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	35	0	ENST00000375119.3:c.1134G>T	p.Val378=	p.V378=	ENST00000375119	NM_016481.3	378	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6730.1	1134	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCACAGC	NONE	.	.	hmmpanther:PTHR12818,Superfamily_domains:0051066	.	.	ENSP00000364260	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375119	Transcript	.	.	ENSG00000136932	30967	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAP1_HUMAN	C9orf156	HGNC	Q5T114_HUMAN	.	UPI000013D057	SNV	C9orf156,synonymous_variant,p.%3D,ENST00000375119,;C9orf156,synonymous_variant,p.%3D,ENST00000375118,;	1211	35	26	SUCCESS
TXNDC8	255220	.	GRCh37	9	113100119	113100119	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	76	0	ENST00000374511.3:c.-43T>A		p.*15*	ENST00000374511				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35104.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTAGTTGG	NONE	.	31	.	.	.	ENSP00000363634	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374510	Transcript	.	.	ENSG00000204193	31454	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXND8_HUMAN	TXNDC8	HGNC	.	.	UPI00001613DC	SNV	TXNDC8,5_prime_UTR_variant,,ENST00000374507,;TXNDC8,5_prime_UTR_variant,,ENST00000374511,;TXNDC8,upstream_gene_variant,,ENST00000423740,;TXNDC8,upstream_gene_variant,,ENST00000374510,;	.	76	52	SUCCESS
ENDOG	2021	.	GRCh37	9	131584861	131584861	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	21	0	ENST00000372642.4:c.866T>G	p.Leu289Arg	p.L289R	ENST00000372642	NM_004435.2	289	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS6912.1	866	RADIA|MUTECT|VARSCANS	.	CAGCCTCAAGG	NONE	.	.	hmmpanther:PTHR13966	.	.	ENSP00000361725	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372642	Transcript	.	.	ENSG00000167136	3346	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.23)	.	deleterious_low_confidence(0.04)	.	NUCG_HUMAN	ENDOG	HGNC	E5KNL5_HUMAN	.	UPI000013E66E	SNV	ENDOG,missense_variant,p.Leu289Arg,ENST00000372642,;C9orf114,3_prime_UTR_variant,,ENST00000361256,;C9orf114,3_prime_UTR_variant,,ENST00000467582,;C9orf114,downstream_gene_variant,,ENST00000480366,;C9orf114,downstream_gene_variant,,ENST00000466556,;C9orf114,downstream_gene_variant,,ENST00000467396,;	1077	21	19	SUCCESS
COL5A1	1289	.	GRCh37	9	137630354	137630354	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	22	34	0	ENST00000371817.3:c.1424G>A	p.Gly475Asp	p.G475D	ENST00000371817	NM_001278074.1	475	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS6982.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCCCCG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	.	ENSP00000360882	.	10/66	.	.	.	.	.	.	.	.	.	10/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Gly475Asp,ENST00000371817,;	1838	34	35	SUCCESS
ENTPD2	954	.	GRCh37	9	139943131	139943131	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	21	0	ENST00000355097.2:c.1466C>A	p.Ala489Asp	p.A489D	ENST00000355097	NM_001246.3	489	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS7026.1	1466	RADIA|VARSCANS	.	GCTTGGCGGAG	NONE	.	.	hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF33	.	.	ENSP00000347213	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000355097	Transcript	.	.	ENSG00000054179	3364	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.231)	.	tolerated(0.18)	.	ENTP2_HUMAN	ENTPD2	HGNC	Q5SPY7_HUMAN	.	UPI0000001C45	SNV	ENTPD2,missense_variant,p.Ala466Asp,ENST00000312665,;ENTPD2,missense_variant,p.Ala489Asp,ENST00000355097,;NPDC1,upstream_gene_variant,,ENST00000371601,;NPDC1,upstream_gene_variant,,ENST00000371600,;RP11-229P13.15,upstream_gene_variant,,ENST00000439076,;ENTPD2,non_coding_transcript_exon_variant,,ENST00000460614,;NPDC1,upstream_gene_variant,,ENST00000485589,;ENTPD2,downstream_gene_variant,,ENST00000469106,;NPDC1,upstream_gene_variant,,ENST00000488145,;	1514	21	36	SUCCESS
NELFB	25920	.	GRCh37	9	140158810	140158810	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	17	20	0	ENST00000343053.4:c.896+1G>T		p.X299_splice	ENST00000343053	NM_015456.3	299		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGTGAGG	NONE	.	.	.	.	.	ENSP00000339495	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	HIGH	6/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,splice_donor_variant,,ENST00000343053,;	.	20	28	SUCCESS
TEK	7010	.	GRCh37	9	27206621	27206621	+	synonymous_variant	Silent	SNP	C	C	A	rs757320501	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	45	1	ENST00000380036.4:c.2406C>A	p.Ala802=	p.A802=	ENST00000380036	NM_000459.3	802	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6519.1	2406	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCTAAA	NONE	.	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416	.	.	ENSP00000369375	.	15/23	.	.	.	.	.	.	.	.	rs757320501	15/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,synonymous_variant,p.%3D,ENST00000406359,;TEK,synonymous_variant,p.%3D,ENST00000519097,;TEK,synonymous_variant,p.%3D,ENST00000380036,;TEK,downstream_gene_variant,,ENST00000519080,;RP11-179D22.1,upstream_gene_variant,,ENST00000422804,;	2848	46	27	SUCCESS
DNAJB5	25822	.	GRCh37	9	34993331	34993331	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	42	0	ENST00000312316.5:c.101A>C	p.Asp34Ala	p.D34A	ENST00000312316	NM_012266.5	34	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS47960.2	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACAAGA	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR24077:SF227,hmmpanther:PTHR24077,Gene3D:1.10.287.110,Pfam_domain:PF00226,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	.	.	ENSP00000404079	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000453597	Transcript	.	.	ENSG00000137094	14887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DNJB5_HUMAN	DNAJB5	HGNC	Q5T657_HUMAN,J3KNR7_HUMAN	.	UPI000204A71D	SNV	DNAJB5,missense_variant,p.Asp34Ala,ENST00000443266,;DNAJB5,missense_variant,p.Asp34Ala,ENST00000541010,;DNAJB5,missense_variant,p.Asp106Ala,ENST00000454002,;DNAJB5,missense_variant,p.Asp34Ala,ENST00000545841,;DNAJB5,missense_variant,p.Asp34Ala,ENST00000312316,;DNAJB5,missense_variant,p.Asp68Ala,ENST00000335998,;DNAJB5,missense_variant,p.Asp148Ala,ENST00000453597,;DNAJB5,missense_variant,p.Asp70Ala,ENST00000539059,;DNAJB5,3_prime_UTR_variant,,ENST00000537321,;DNAJB5,3_prime_UTR_variant,,ENST00000538278,;DNAJB5,3_prime_UTR_variant,,ENST00000469798,;DNAJB5,downstream_gene_variant,,ENST00000458263,;	471	42	39	SUCCESS
CNTNAP3B	728577	.	GRCh37	9	43737465	43737465	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	54	66	1	ENST00000377561.2:n.481T>G		p.*161*	ENST00000377561		112		0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS55312.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGATGTTCA	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000366787	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000377564	Transcript	.	.	ENSG00000154529	32035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	CNT3B_HUMAN	CNTNAP3B	HGNC	.	.	UPI0000470399	SNV	CNTNAP3B,missense_variant,p.Met112Arg,ENST00000377564,;CNTNAP3B,missense_variant,p.Met112Arg,ENST00000276974,;CNTNAP3B,missense_variant,p.Met112Arg,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;	728	67	69	SUCCESS
INSL4	3641	.	GRCh37	9	5231621	5231621	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	51	0	ENST00000239316.4:c.98C>A	p.Pro33His	p.P33H	ENST00000239316	NM_002195.1	33	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS6459.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCCCCGAT	NONE	.	.	hmmpanther:PTHR12004:SF3,hmmpanther:PTHR12004,Prints_domain:PR02033	.	.	ENSP00000239316	.	1/2	.	.	.	.	.	.	.	.	COSM3657663	1/2	PASS	ENST00000239316	Transcript	.	.	ENSG00000120211	6087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	tolerated(0.58)	1	INSL4_HUMAN	INSL4	HGNC	.	.	UPI0000032F5A	SNV	INSL4,missense_variant,p.Pro33His,ENST00000239316,;	203	51	43	SUCCESS
TLE4	7091	.	GRCh37	9	82267541	82267541	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	83	0	ENST00000376552.2:c.424C>A	p.His142Asn	p.H142N	ENST00000376552	NM_007005.3	142	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS43837.1	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGACATGGT	NONE	.	.	hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21	.	.	ENSP00000365735	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.08)	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,missense_variant,p.His142Asn,ENST00000376537,;TLE4,missense_variant,p.His156Asn,ENST00000435650,;TLE4,missense_variant,p.His128Asn,ENST00000414465,;TLE4,missense_variant,p.His142Asn,ENST00000376520,;TLE4,missense_variant,p.His140Asn,ENST00000425506,;TLE4,missense_variant,p.His127Asn,ENST00000428713,;TLE4,missense_variant,p.His142Asn,ENST00000376552,;TLE4,missense_variant,p.His142Asn,ENST00000376544,;TLE4,missense_variant,p.His12Asn,ENST00000490347,;TLE4,missense_variant,p.His117Asn,ENST00000265284,;TLE4,5_prime_UTR_variant,,ENST00000376534,;TLE4,non_coding_transcript_exon_variant,,ENST00000496853,;TLE4,non_coding_transcript_exon_variant,,ENST00000474519,;TLE4,non_coding_transcript_exon_variant,,ENST00000455913,;TLE4,upstream_gene_variant,,ENST00000493163,;TLE4,downstream_gene_variant,,ENST00000483597,;TLE4,missense_variant,p.His142Asn,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;	1442	83	64	SUCCESS
ZCCHC6	0	.	GRCh37	9	88967620	88967620	+	synonymous_variant	Silent	SNP	C	C	A	rs756709028	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	35	184	0	ENST00000375963.3:c.495G>T	p.Thr165=	p.T165=	ENST00000375963	NM_001185059.1	165	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS35057.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACGTGGT	NONE	.	.	.	.	.	ENSP00000365130	.	2/27	.	.	.	.	.	.	.	.	rs756709028	2/27	PASS	ENST00000375963	Transcript	.	.	ENSG00000083223	25817	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUT7_HUMAN	ZCCHC6	HGNC	.	.	UPI00004588F6	SNV	ZCCHC6,synonymous_variant,p.%3D,ENST00000375961,;ZCCHC6,synonymous_variant,p.%3D,ENST00000375960,;ZCCHC6,synonymous_variant,p.%3D,ENST00000375963,;ZCCHC6,5_prime_UTR_variant,,ENST00000375947,;ZCCHC6,5_prime_UTR_variant,,ENST00000277141,;	668	184	129	SUCCESS
PAK3	5063	.	GRCh37	X	110416299	110416299	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1395819172	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	73	95	1	ENST00000262836.4:c.865A>G	p.Ile289Val	p.I289V	ENST00000262836	NM_001128173.1	289	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS48151.1	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAATTGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000353864	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000360648	Transcript	.	.	ENSG00000077264	8592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.01)	.	PAK3_HUMAN	PAK3	HGNC	B1AKS5_HUMAN	.	UPI0000D61DBC	SNV	PAK3,missense_variant,p.Ile289Val,ENST00000372010,;PAK3,missense_variant,p.Ile310Val,ENST00000360648,;PAK3,missense_variant,p.Ile274Val,ENST00000446737,;PAK3,missense_variant,p.Ile274Val,ENST00000425146,;PAK3,missense_variant,p.Ile295Val,ENST00000417227,;PAK3,missense_variant,p.Ile310Val,ENST00000518291,;PAK3,missense_variant,p.Ile289Val,ENST00000262836,;PAK3,missense_variant,p.Ile274Val,ENST00000372007,;PAK3,missense_variant,p.Ile295Val,ENST00000519681,;FCF1P4,downstream_gene_variant,,ENST00000448326,;	955	96	87	SUCCESS
CXorf64	0	.	GRCh37	X	125955203	125955203	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	29	44	1	ENST00000371125.3:c.582G>C	p.Glu194Asp	p.E194D	ENST00000371125	NM_001122716.1	194	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS48163.1	582	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAGGTGCC	BUFFER|p.G198R|c.592G>A|3	.	.	Pfam_domain:PF15488	.	.	ENSP00000360166	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371125	Transcript	.	.	ENSG00000183631	34498	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.248)	.	deleterious(0.05)	.	CX064_HUMAN	CXorf64	HGNC	.	.	UPI00004A3B00	SNV	CXorf64,missense_variant,p.Glu194Asp,ENST00000371125,;	662	45	40	SUCCESS
AKAP4	8852	.	GRCh37	X	49957907	49957907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	37	56	1	ENST00000358526.2:c.1457C>A	p.Pro486Gln	p.P486Q	ENST00000358526	NM_003886.2	486	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS14329.1	1457	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGGGTCT	NONE	.	.	hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000351327	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000358526	Transcript	.	.	ENSG00000147081	374	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.46)	.	AKAP4_HUMAN	AKAP4	HGNC	.	.	UPI000013DA96	SNV	AKAP4,missense_variant,p.Pro486Gln,ENST00000358526,;AKAP4,missense_variant,p.Pro477Gln,ENST00000376056,;AKAP4,missense_variant,p.Pro477Gln,ENST00000376064,;AKAP4,intron_variant,,ENST00000448865,;AKAP4,intron_variant,,ENST00000376058,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	1581	58	51	SUCCESS
ZRANB1	54764	.	GRCh37	10	126655297	126655297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	28	117	0	ENST00000359653.4:c.949C>T	p.His317Tyr	p.H317Y	ENST00000359653	NM_017580.2	317	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS7642.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACACTTG	NONE	.	.	hmmpanther:PTHR13367	.	.	ENSP00000352676	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000359653	Transcript	.	.	ENSG00000019995	18224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.03)	.	ZRAN1_HUMAN	ZRANB1	HGNC	.	.	UPI000013C53E	SNV	ZRANB1,missense_variant,p.His317Tyr,ENST00000359653,;	1320	117	114	SUCCESS
FZD8	8325	.	GRCh37	10	35930025	35930025	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	37	0	ENST00000374694.1:c.333C>T	p.Cys111=	p.C111=	ENST00000374694	NM_031866.2	111	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS7192.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGCACAC	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF77,hmmpanther:PTHR11309,Pfam_domain:PF01392,Gene3D:1ijyA00,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000363826	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374694	Transcript	.	.	ENSG00000177283	4046	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD8_HUMAN	FZD8	HGNC	.	.	UPI0000047F3B	SNV	FZD8,synonymous_variant,p.%3D,ENST00000374694,;MIR4683,downstream_gene_variant,,ENST00000579659,;	338	37	61	SUCCESS
RBP3	5949	.	GRCh37	10	48388584	48388584	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	92	0	ENST00000224600.4:c.2294T>C	p.Val765Ala	p.V765A	ENST00000224600	NM_002900.2	765	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS7218.1	2294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCACCAGC	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.02)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.Val765Ala,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	2408	92	101	SUCCESS
AKR1C1	1645	.	GRCh37	10	5009211	5009211	+	synonymous_variant	Silent	SNP	T	T	G	rs766719242	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	15	182	0	ENST00000380872.4:c.345T>G	p.Leu115=	p.L115=	ENST00000380872	NM_001353.5	115	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS7061.1	345	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTATTCA	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000370254	.	3/9	.	.	.	.	.	.	.	.	rs766719242	3/9	PASS	ENST00000380872	Transcript	.	.	ENSG00000187134	384	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AK1C1_HUMAN	AKR1C1	HGNC	.	.	UPI0000125760	SNV	AKR1C1,synonymous_variant,p.%3D,ENST00000442997,;AKR1C1,synonymous_variant,p.%3D,ENST00000380859,;AKR1C1,synonymous_variant,p.%3D,ENST00000434459,;AKR1C1,synonymous_variant,p.%3D,ENST00000380872,;U8,upstream_gene_variant,,ENST00000459095,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000476100,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000477661,;	537	182	152	SUCCESS
PDGFD	80310	.	GRCh37	11	103780494	103780494	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	39	115	0	ENST00000393158.2:c.1041G>T	p.Met347Ile	p.M347I	ENST00000393158		347	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS41703.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCATGGT	NONE	.	.	PROSITE_profiles:PS50278,hmmpanther:PTHR10127:SF13,hmmpanther:PTHR10127,Gene3D:2.10.90.10,Pfam_domain:PF00341,Superfamily_domains:SSF57501	.	.	ENSP00000376865	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000393158	Transcript	.	.	ENSG00000170962	30620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.2)	.	PDGFD_HUMAN	PDGFD	HGNC	.	.	UPI0000034811	SNV	PDGFD,missense_variant,p.Met341Ile,ENST00000302251,;PDGFD,missense_variant,p.Met347Ile,ENST00000393158,;	1221	115	115	SUCCESS
GRIA4	2893	.	GRCh37	11	105782776	105782776	+	intron_variant	Intron	SNP	T	T	A	rs530739454	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	60	0	ENST00000282499.5:c.1269+1505T>A		p.*423*	ENST00000282499	NM_000829.3			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS8333.1	.	MUTECT|MUSE	.	AAAAATTTTAA	NONE	byFrequency|by1000G	.	.	A:0.001	.	ENSP00000282499	A:0	.	.	.	.	.	.	.	.	.	rs530739454	.	PASS	ENST00000282499	Transcript	.	A:0.0006	ENSG00000152578	4574	.	.	MODIFIER	10/16	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,3_prime_UTR_variant,,ENST00000428631,;GRIA4,3_prime_UTR_variant,,ENST00000393125,;GRIA4,intron_variant,,ENST00000282499,;GRIA4,intron_variant,,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,;GRIA4,intron_variant,,ENST00000525187,;	.	60	71	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33628245	33628245	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	119	0	ENST00000321505.4:c.4047C>A	p.Ala1349=	p.A1349=	ENST00000321505		1349	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44565.2	4047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCGCTGA	NONE	.	.	Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	13/20	.	.	.	.	.	.	.	.	COSM3446875	13/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,synonymous_variant,p.%3D,ENST00000321505,;KIAA1549L,synonymous_variant,p.%3D,ENST00000526400,;KIAA1549L,synonymous_variant,p.%3D,ENST00000389726,;	4227	119	122	SUCCESS
CTNND1	1500	.	GRCh37	11	57563046	57563046	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	78	0	ENST00000399050.4:c.268-3T>A		p.X90_splice	ENST00000399050	NM_001085458.1	90		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44604.1	.	MUSE|VARSCANS	.	GCATATAGGAT	NONE	.	.	.	.	.	ENSP00000382004	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	LOW	4/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,splice_region_variant,,ENST00000361796,;CTNND1,splice_region_variant,,ENST00000532787,;CTNND1,splice_region_variant,,ENST00000526357,;CTNND1,splice_region_variant,,ENST00000428599,;CTNND1,splice_region_variant,,ENST00000532649,;CTNND1,splice_region_variant,,ENST00000528232,;CTNND1,splice_region_variant,,ENST00000529919,;CTNND1,splice_region_variant,,ENST00000529873,;CTNND1,splice_region_variant,,ENST00000532844,;CTNND1,splice_region_variant,,ENST00000532463,;CTNND1,splice_region_variant,,ENST00000415361,;CTNND1,splice_region_variant,,ENST00000530094,;CTNND1,splice_region_variant,,ENST00000529986,;CTNND1,splice_region_variant,,ENST00000530068,;CTNND1,splice_region_variant,,ENST00000532245,;CTNND1,splice_region_variant,,ENST00000530748,;CTNND1,splice_region_variant,,ENST00000528621,;CTNND1,splice_region_variant,,ENST00000361391,;CTNND1,splice_region_variant,,ENST00000399050,;CTNND1,splice_region_variant,,ENST00000534579,;CTNND1,splice_region_variant,,ENST00000526938,;CTNND1,splice_region_variant,,ENST00000529526,;CTNND1,splice_region_variant,,ENST00000399039,;CTNND1,splice_region_variant,,ENST00000360682,;CTNND1,splice_region_variant,,ENST00000524630,;CTNND1,splice_region_variant,,ENST00000534647,;CTNND1,splice_region_variant,,ENST00000358694,;CTNND1,splice_region_variant,,ENST00000426142,;CTNND1,splice_region_variant,,ENST00000361332,;CTNND1,intron_variant,,ENST00000533189,;CTNND1,intron_variant,,ENST00000533667,;CTNND1,intron_variant,,ENST00000531014,;CTNND1,intron_variant,,ENST00000527467,;CTNND1,intron_variant,,ENST00000526772,;CTNND1,intron_variant,,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000524579,;TMX2-CTNND1,downstream_gene_variant,,ENST00000528395,;RP11-691N7.6,downstream_gene_variant,,ENST00000531074,;	.	78	93	SUCCESS
PLA2G16	0	.	GRCh37	11	63342458	63342458	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	52	0	ENST00000323646.5:c.448A>G	p.Ile150Val	p.I150V	ENST00000323646	NM_007069.3	150	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8047.1	448	MUTECT|MUSE	.	TCCAATAAGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13943:SF33,hmmpanther:PTHR13943	.	.	ENSP00000320337	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000323646	Transcript	.	.	ENSG00000176485	17825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.28)	.	HRSL3_HUMAN	PLA2G16	HGNC	F5H7E5_HUMAN	.	UPI000012CBE4	SNV	PLA2G16,missense_variant,p.Ile150Val,ENST00000323646,;PLA2G16,missense_variant,p.Ile150Val,ENST00000415826,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;	803	52	63	SUCCESS
MYO1H	283446	.	GRCh37	12	109834356	109834356	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	29	84	0	ENST00000310903.5:c.410A>G	p.Asp137Gly	p.D137G	ENST00000310903		137	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS53826.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGACAGAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF353,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000439182	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000310903	Transcript	.	.	ENSG00000174527	13879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.01)	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,missense_variant,p.Asp137Gly,ENST00000431443,;MYO1H,missense_variant,p.Asp137Gly,ENST00000310903,;MYO1H,upstream_gene_variant,,ENST00000542883,;	516	84	92	SUCCESS
MMAB	326625	.	GRCh37	12	110011320	110011320	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	26	0	ENST00000545712.2:c.-35C>T		p.*12*	ENST00000545712	NM_052845.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9132.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGGTTCC	NONE	.	297	.	.	.	ENSP00000228510	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000228510	Transcript	.	.	ENSG00000110921	7530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIME_HUMAN	MVK	HGNC	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN	.	UPI000012DE5B	SNV	MVK,5_prime_UTR_variant,,ENST00000546277,;MMAB,5_prime_UTR_variant,,ENST00000545712,;MVK,5_prime_UTR_variant,,ENST00000539335,;MVK,upstream_gene_variant,,ENST00000539696,;MMAB,upstream_gene_variant,,ENST00000540016,;MVK,upstream_gene_variant,,ENST00000228510,;MVK,upstream_gene_variant,,ENST00000539575,;MMAB,upstream_gene_variant,,ENST00000266839,;MVK,upstream_gene_variant,,ENST00000392727,;MVK,upstream_gene_variant,,ENST00000541384,;MVK,non_coding_transcript_exon_variant,,ENST00000535044,;MMAB,non_coding_transcript_exon_variant,,ENST00000537236,;MMAB,upstream_gene_variant,,ENST00000420167,;MVK,upstream_gene_variant,,ENST00000545774,;MMAB,upstream_gene_variant,,ENST00000542390,;MMAB,upstream_gene_variant,,ENST00000541763,;MMAB,upstream_gene_variant,,ENST00000536760,;MMAB,upstream_gene_variant,,ENST00000537496,;MVK,upstream_gene_variant,,ENST00000537237,;MMAB,upstream_gene_variant,,ENST00000544051,;MMAB,upstream_gene_variant,,ENST00000503497,;MVK,upstream_gene_variant,,ENST00000447878,;	.	26	48	SUCCESS
ATP2A2	488	.	GRCh37	12	110778716	110778716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	53	116	0	ENST00000539276.2:c.2014G>T	p.Ala672Ser	p.A672S	ENST00000539276		672	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9144.1	2014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACGCCCGC	NONE	.	.	hmmpanther:PTHR24093:SF234,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01116,Pfam_domain:PF00702,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784,Prints_domain:PR00120	.	.	ENSP00000440045	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000539276	Transcript	.	.	ENSG00000174437	812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.502)	.	deleterious(0.05)	.	AT2A2_HUMAN	ATP2A2	HGNC	.	.	UPI0000001C3A	SNV	ATP2A2,missense_variant,p.Ala563Ser,ENST00000548169,;ATP2A2,missense_variant,p.Ala672Ser,ENST00000308664,;ATP2A2,missense_variant,p.Ala645Ser,ENST00000395494,;ATP2A2,missense_variant,p.Ala672Ser,ENST00000539276,;ATP2A2,3_prime_UTR_variant,,ENST00000377685,;ATP2A2,upstream_gene_variant,,ENST00000313432,;ATP2A2,upstream_gene_variant,,ENST00000547792,;	2123	116	141	SUCCESS
CIT	11113	.	GRCh37	12	120271933	120271933	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	142	0	ENST00000261833.7:c.616A>G	p.Ile206Val	p.I206V	ENST00000261833	NM_007174.2	206	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS55891.1	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAATCAGCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF038145,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PROSITE_profiles:PS50011	.	.	ENSP00000376306	.	6/48	.	.	.	.	.	.	.	.	.	6/48	PASS	ENST00000392521	Transcript	.	.	ENSG00000122966	1985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	CTRO_HUMAN	CIT	HGNC	.	.	UPI0000683C41	SNV	CIT,missense_variant,p.Ile206Val,ENST00000261833,;CIT,missense_variant,p.Ile206Val,ENST00000392521,;CIT,intron_variant,,ENST00000536325,;	672	142	101	SUCCESS
CPNE8	144402	.	GRCh37	12	39242371	39242371	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754785078	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	116	257	0	ENST00000331366.5:c.280C>T	p.Arg94Cys	p.R94C	ENST00000331366	NM_153634.2	94	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8733.1	280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACGAAGAT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10857:SF9,hmmpanther:PTHR10857,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000329748	.	4/20	.	.	.	.	.	.	.	.	rs754785078,COSM274650	4/20	PASS	ENST00000331366	Transcript	.	.	ENSG00000139117	23498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	CPNE8_HUMAN	CPNE8	HGNC	Q86VY2_HUMAN	.	UPI000015FF59	SNV	CPNE8,missense_variant,p.Arg82Cys,ENST00000360449,;CPNE8,missense_variant,p.Arg94Cys,ENST00000331366,;CPNE8,5_prime_UTR_variant,,ENST00000550863,;	377	257	294	SUCCESS
SAP18	10284	.	GRCh37	13	21721331	21721331	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	66	270	0	ENST00000607003.1:c.312G>A	p.Lys104=	p.K104=	ENST00000607003		104	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS9295.2	369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAAGGAGAT	NONE	.	.	hmmpanther:PTHR13082:SF1,hmmpanther:PTHR13082,Pfam_domain:PF06487,PIRSF_domain:PIRSF037637	.	.	ENSP00000371973	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382533	Transcript	.	.	ENSG00000150459	10530	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SAP18	HGNC	U3KPY7_HUMAN	.	UPI000187B6C9	SNV	SAP18,synonymous_variant,p.%3D,ENST00000607003,;SAP18,synonymous_variant,p.%3D,ENST00000450573,;SAP18,synonymous_variant,p.%3D,ENST00000382533,;SAP18,3_prime_UTR_variant,,ENST00000492245,;SAP18,3_prime_UTR_variant,,ENST00000467636,;RN7SL80P,upstream_gene_variant,,ENST00000580631,;SAP18,non_coding_transcript_exon_variant,,ENST00000471009,;	408	270	316	SUCCESS
SACS	26278	.	GRCh37	13	23907171	23907171	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	22	150	0	ENST00000382292.3:c.10844A>C	p.Asn3615Thr	p.N3615T	ENST00000382292		3615	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS9300.2	10844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGTTTTCT	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	COSM1639309,COSM1639308	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.02)	.	.	1,1	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Asn3615Thr,ENST00000382292,;SACS,missense_variant,p.Asn2865Thr,ENST00000402364,;SACS,missense_variant,p.Asn3615Thr,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	11433	150	90	SUCCESS
SLC25A21	89874	.	GRCh37	14	37198709	37198709	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	21	256	0	ENST00000331299.5:c.330+3A>G		p.X110_splice	ENST00000331299	NM_030631.3	110		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9663.1	.	MUSE|VARSCANS	.	TCACTTACCAA	NONE	.	.	.	.	.	ENSP00000329452	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331299	Transcript	.	.	ENSG00000183032	14411	.	.	LOW	5/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ODC_HUMAN	SLC25A21	HGNC	.	.	UPI0000130BCE	SNV	SLC25A21,splice_region_variant,,ENST00000555449,;SLC25A21,splice_region_variant,,ENST00000331299,;SLC25A21,splice_region_variant,,ENST00000546428,;SLC25A21,upstream_gene_variant,,ENST00000556444,;	.	257	253	SUCCESS
FOXN3	1112	.	GRCh37	14	89878384	89878384	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	30	155	0	ENST00000261302.5:c.437A>G	p.Glu146Gly	p.E146G	ENST00000261302		146	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS41977.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTTCCAAG	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR13962:SF12,hmmpanther:PTHR13962,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000343288	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000345097	Transcript	.	.	ENSG00000053254	1928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	FOXN3_HUMAN	FOXN3	HGNC	G3V5C7_HUMAN,G3V4N5_HUMAN,G3V3A7_HUMAN	.	UPI000003B451	SNV	FOXN3,missense_variant,p.Glu146Gly,ENST00000345097,;FOXN3,missense_variant,p.Glu146Gly,ENST00000555353,;FOXN3,missense_variant,p.Glu146Gly,ENST00000557258,;FOXN3,missense_variant,p.Glu146Gly,ENST00000261302,;FOXN3,missense_variant,p.Glu7Gly,ENST00000556916,;FOXN3,missense_variant,p.Glu146Gly,ENST00000555855,;FOXN3,upstream_gene_variant,,ENST00000553840,;FOXN3,downstream_gene_variant,,ENST00000553904,;FOXN3,downstream_gene_variant,,ENST00000555034,;RP11-33N16.2,downstream_gene_variant,,ENST00000556383,;RP11-33N16.3,downstream_gene_variant,,ENST00000555070,;FOXN3,upstream_gene_variant,,ENST00000554005,;FOXN3,upstream_gene_variant,,ENST00000557718,;	554	155	149	SUCCESS
THBS1	7057	.	GRCh37	15	39874930	39874930	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	16	0	ENST00000260356.5:c.604G>T	p.Gly202Trp	p.G202W	ENST00000260356	NM_003246.2	202	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS32194.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGGGGGC	NONE	.	.	hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,missense_variant,p.Gly202Trp,ENST00000260356,;THBS1,downstream_gene_variant,,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000466755,;THBS1,upstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000478845,;	769	16	36	SUCCESS
ONECUT1	3175	.	GRCh37	15	53081884	53081884	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	18	0	ENST00000305901.5:c.198A>C	p.Gly66=	p.G66=	ENST00000305901	NM_004498.2	66	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS10150.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCTCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14057:SF9,hmmpanther:PTHR14057	.	.	ENSP00000302630	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000305901	Transcript	.	.	ENSG00000169856	8138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNF6_HUMAN	ONECUT1	HGNC	B2CNW3_HUMAN	.	UPI000012CA91	SNV	ONECUT1,synonymous_variant,p.%3D,ENST00000305901,;ONECUT1,intron_variant,,ENST00000561401,;ONECUT1,upstream_gene_variant,,ENST00000570208,;	326	18	15	SUCCESS
ADAMTS7	11173	.	GRCh37	15	79067100	79067100	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs767569244	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	27	0	ENST00000388820.4:c.1742G>T	p.Arg581Leu	p.R581L	ENST00000388820	NM_014272.3	581	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS32303.1	1742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGCGCTCA	CODON|p.R581R|c.1743C>G|4	byFrequency	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000373472	.	12/24	.	.	.	.	.	.	.	.	rs767569244	12/24	PASS	ENST00000388820	Transcript	.	.	ENSG00000136378	223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ATS7_HUMAN	ADAMTS7	HGNC	.	.	UPI00002263B3	SNV	ADAMTS7,missense_variant,p.Arg581Leu,ENST00000388820,;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;	1953	27	30	SUCCESS
CCDC154	645811	.	GRCh37	16	1486703	1486703	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	34	0	ENST00000389176.3:c.1427T>C	p.Leu476Pro	p.L476P	ENST00000389176	NM_001143980.1	476	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	.	1427	MUTECT|MUSE	.	GGGGGAGGCCA	NONE	.	.	Pfam_domain:PF15450	.	.	ENSP00000373828	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000389176	Transcript	.	.	ENSG00000197599	34454	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CC154_HUMAN	CCDC154	HGNC	.	.	UPI000178DF39	SNV	CCDC154,missense_variant,p.Leu476Pro,ENST00000389176,;CCDC154,missense_variant,p.Leu322Pro,ENST00000409671,;CCDC154,missense_variant,p.Leu66Pro,ENST00000483702,;CCDC154,upstream_gene_variant,,ENST00000463299,;	1594	34	48	SUCCESS
SMG1	23049	.	GRCh37	16	18841077	18841077	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	56	0	ENST00000446231.2:c.9134G>T	p.Gly3045Val	p.G3045V	ENST00000446231		3045	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS45430.1	9134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATCCTACA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	.	.	ENSP00000402515	.	54/63	.	.	.	.	.	.	.	.	.	54/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,missense_variant,p.Gly3045Val,ENST00000389467,;SMG1,missense_variant,p.Gly2935Val,ENST00000565324,;SMG1,missense_variant,p.Gly3045Val,ENST00000446231,;	9547	56	76	SUCCESS
FOXC2	2303	.	GRCh37	16	86601530	86601530	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	239	543	1	ENST00000320354.4:c.589A>T	p.Thr197Ser	p.T197S	ENST00000320354	NM_005251.2	197	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS10958.1	589	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCACCCCC	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF143	.	.	ENSP00000326371	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320354	Transcript	.	.	ENSG00000176692	3801	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.75)	.	FOXC2_HUMAN	FOXC2	HGNC	I6YRR3_HUMAN	.	UPI000012ADC6	SNV	FOXC2,missense_variant,p.Thr197Ser,ENST00000320354,;RP11-463O9.5,upstream_gene_variant,,ENST00000563280,;	674	544	395	SUCCESS
NCOR1	9611	.	GRCh37	17	16040642	16040642	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	44	90	0	ENST00000268712.3:c.1492C>T	p.Arg498Cys	p.R498C	ENST00000268712	NM_006311.3	498	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11175.1	1492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCGTTTCC	NONE	.	.	hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	.	.	ENSP00000268712	.	14/46	.	.	.	.	.	.	.	.	.	14/46	PASS	ENST00000268712	Transcript	.	.	ENSG00000141027	7672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	NCOR1_HUMAN	NCOR1	HGNC	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN	.	UPI000013D7D5	SNV	NCOR1,missense_variant,p.Arg507Cys,ENST00000582357,;NCOR1,missense_variant,p.Arg389Cys,ENST00000395848,;NCOR1,missense_variant,p.Arg498Cys,ENST00000395851,;NCOR1,missense_variant,p.Arg507Cys,ENST00000436828,;NCOR1,missense_variant,p.Arg498Cys,ENST00000411510,;NCOR1,missense_variant,p.Arg498Cys,ENST00000268712,;RNU6-862P,downstream_gene_variant,,ENST00000362804,;NCOR1,3_prime_UTR_variant,,ENST00000460276,;	1750	90	63	SUCCESS
SPECC1	92521	.	GRCh37	17	20108414	20108414	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	12	117	0	ENST00000261503.5:c.1052A>G	p.Lys351Arg	p.K351R	ENST00000261503	NM_001033553.2	351	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS32590.1	1052	MUTECT|MUSE	.	CTTTAAGAGTT	NONE	.	.	hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	tolerated(0.32)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Lys351Arg,ENST00000395527,;SPECC1,missense_variant,p.Lys270Arg,ENST00000395522,;SPECC1,missense_variant,p.Lys270Arg,ENST00000395525,;SPECC1,missense_variant,p.Lys351Arg,ENST00000261503,;SPECC1,missense_variant,p.Lys351Arg,ENST00000395529,;SPECC1,missense_variant,p.Lys270Arg,ENST00000395530,;SPECC1,intron_variant,,ENST00000536879,;SPECC1,upstream_gene_variant,,ENST00000582226,;SPECC1,downstream_gene_variant,,ENST00000583463,;SPECC1,upstream_gene_variant,,ENST00000581399,;SPECC1,upstream_gene_variant,,ENST00000584527,;SPECC1,downstream_gene_variant,,ENST00000581973,;SPECC1,downstream_gene_variant,,ENST00000583482,;AC004702.2,intron_variant,,ENST00000580225,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,downstream_gene_variant,,ENST00000582063,;SPECC1,downstream_gene_variant,,ENST00000579688,;SPECC1,downstream_gene_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000467722,;	1103	117	169	SUCCESS
NLK	51701	.	GRCh37	17	26495650	26495650	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	8	81	0	ENST00000407008.3:c.1014A>T	p.Arg338Ser	p.R338S	ENST00000407008	NM_016231.4	338	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS11224.2	1014	MUTECT|MUSE	.	CGAAGAATATT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF179,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000384625	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000407008	Transcript	.	.	ENSG00000087095	29858	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	NLK_HUMAN	NLK	HGNC	H0YD75_HUMAN	.	UPI0000D48A70	SNV	NLK,missense_variant,p.Arg338Ser,ENST00000407008,;NLK,upstream_gene_variant,,ENST00000584188,;NLK,missense_variant,p.Arg286Ser,ENST00000496808,;AC100852.2,downstream_gene_variant,,ENST00000366300,;	1732	81	113	SUCCESS
CNTNAP1	8506	.	GRCh37	17	40849753	40849753	+	synonymous_variant	Silent	SNP	C	C	T	rs141617249	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	59	73	0	ENST00000264638.4:c.3750C>T	p.Cys1250=	p.C1250=	ENST00000264638	NM_003632.2	1250	tgC/tgT	0	T:0.0002	T:0	.	T:0	.	T	C	protein_coding	YES	CCDS11436.1	3750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGCGGAGC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50025	T:0	T:0.0008	ENSP00000264638	T:0.001	22/24	.	.	.	.	.	.	.	.	rs141617249	22/24	common_in_exac	ENST00000264638	Transcript	.	T:0.0002	ENSG00000108797	8011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CNTP1_HUMAN	CNTNAP1	HGNC	.	.	UPI00001285F6	SNV	CNTNAP1,synonymous_variant,p.%3D,ENST00000264638,;EZH1,downstream_gene_variant,,ENST00000428826,;EZH1,downstream_gene_variant,,ENST00000435174,;EZH1,downstream_gene_variant,,ENST00000415827,;EZH1,downstream_gene_variant,,ENST00000592743,;EZH1,downstream_gene_variant,,ENST00000590078,;EZH1,downstream_gene_variant,,ENST00000585893,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,3_prime_UTR_variant,,ENST00000591662,;EZH1,downstream_gene_variant,,ENST00000588897,;EZH1,downstream_gene_variant,,ENST00000586714,;	3967	73	110	SUCCESS
LRRC37A4P	55073	.	GRCh37	17	43592315	43592315	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	19	0	ENST00000581296.1:n.3456G>A		p.*1152*	ENST00000581296				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	TTCTTCGGCAG	NONE	.	.	.	.	.	.	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000581296	Transcript	.	.	ENSG00000214425	25479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LRRC37A4P	HGNC	.	.	.	SNV	RP11-798G7.5,intron_variant,,ENST00000253803,;LRRC37A4P,non_coding_transcript_exon_variant,,ENST00000579913,;LRRC37A4P,non_coding_transcript_exon_variant,,ENST00000581296,;LRRC37A4P,intron_variant,,ENST00000398305,;	3456	19	50	SUCCESS
WSCD1	23302	.	GRCh37	17	5991415	5991415	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	44	0	ENST00000317744.5:c.533G>T	p.Cys178Phe	p.C178F	ENST00000317744	NM_015253.1	178	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS32538.1	533	MUTECT|MUSE	.	TGCGTGTGCTG	NONE	.	.	PROSITE_profiles:PS51212,hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297,Pfam_domain:PF01822,SMART_domains:SM00321	.	.	ENSP00000460825	.	3/9	.	.	.	.	.	.	.	.	COSM1324910	3/9	PASS	ENST00000574946	Transcript	.	.	ENSG00000179314	29060	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	WSCD1_HUMAN	WSCD1	HGNC	I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN	.	UPI0000197208	SNV	WSCD1,missense_variant,p.Cys178Phe,ENST00000576083,;WSCD1,missense_variant,p.Cys62Phe,ENST00000573634,;WSCD1,missense_variant,p.Cys178Phe,ENST00000574232,;WSCD1,missense_variant,p.Cys10Phe,ENST00000576947,;WSCD1,missense_variant,p.Cys178Phe,ENST00000574946,;WSCD1,missense_variant,p.Cys178Phe,ENST00000317744,;WSCD1,missense_variant,p.Cys178Phe,ENST00000539421,;WSCD1,intron_variant,,ENST00000571494,;	923	44	30	SUCCESS
DNAH17	8632	.	GRCh37	17	76481047	76481047	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	59	0	ENST00000389840.5:c.7510G>C	p.Val2504Leu	p.V2504L	ENST00000389840		2504	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	.	7510	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGACGAGCT	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000374490	.	48/81	.	.	.	.	.	.	.	.	.	48/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Val2513Leu,ENST00000585328,;DNAH17,missense_variant,p.Val2504Leu,ENST00000389840,;RP11-559N14.5,non_coding_transcript_exon_variant,,ENST00000585969,;RP11-559N14.5,non_coding_transcript_exon_variant,,ENST00000588565,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;	7635	59	84	SUCCESS
MUM1	0	.	GRCh37	19	1360549	1360549	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	47	140	0	ENST00000344663.3:c.632A>G	p.Asn211Ser	p.N211S	ENST00000344663		211	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12062.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAATTGGA	NONE	.	.	hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF4	.	.	ENSP00000345789	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000344663	Transcript	.	.	ENSG00000160953	29641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.86)	.	.	MUM1	HGNC	K7EP97_HUMAN,K7END0_HUMAN,J3KNX4_HUMAN	.	UPI00001A95DB	SNV	MUM1,missense_variant,p.Asn211Ser,ENST00000591337,;MUM1,missense_variant,p.Asn211Ser,ENST00000415183,;MUM1,missense_variant,p.Asn211Ser,ENST00000591806,;MUM1,missense_variant,p.Asn211Ser,ENST00000344663,;MUM1,missense_variant,p.Asn142Ser,ENST00000311401,;MUM1,downstream_gene_variant,,ENST00000592374,;MUM1,3_prime_UTR_variant,,ENST00000588810,;MUM1,3_prime_UTR_variant,,ENST00000587460,;MUM1,3_prime_UTR_variant,,ENST00000591433,;MUM1,non_coding_transcript_exon_variant,,ENST00000590695,;MUM1,downstream_gene_variant,,ENST00000588351,;MUM1,upstream_gene_variant,,ENST00000586996,;MUM1,downstream_gene_variant,,ENST00000590866,;	733	140	169	SUCCESS
RYR1	6261	.	GRCh37	19	39025793	39025793	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	24	0	ENST00000359596.3:c.11372C>A	p.Ala3791Asp	p.A3791D	ENST00000359596		3791	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS33011.1	11372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCCATGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	80/106	.	.	.	.	.	.	.	.	.	80/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Ala727Asp,ENST00000599547,;RYR1,missense_variant,p.Ala3786Asp,ENST00000355481,;RYR1,missense_variant,p.Ala3791Asp,ENST00000359596,;RYR1,missense_variant,p.Ala3791Asp,ENST00000360985,;RYR1,missense_variant,p.Ala218Asp,ENST00000601514,;RYR1,missense_variant,p.Ala34Asp,ENST00000596431,;AC067969.2,downstream_gene_variant,,ENST00000595853,;RYR1,missense_variant,p.Ala25Asp,ENST00000593322,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	11372	24	26	SUCCESS
ZNF222	7673	.	GRCh37	19	44529605	44529605	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	57	0	ENST00000187879.8:c.-72A>G		p.*24*	ENST00000187879	NM_013360.2	6		0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS46098.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGAAAAGA	NONE	.	.	.	.	.	ENSP00000375822	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000391960	Transcript	.	.	ENSG00000159885	13015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.859)	.	deleterious_low_confidence(0.03)	.	ZN222_HUMAN	ZNF222	HGNC	Q02387_HUMAN	.	UPI000014182E	SNV	ZNF222,missense_variant,p.Glu6Gly,ENST00000391960,;ZNF222,missense_variant,p.Glu6Gly,ENST00000587846,;ZNF222,5_prime_UTR_variant,,ENST00000187879,;AC067968.3,upstream_gene_variant,,ENST00000592583,;ZNF222,non_coding_transcript_exon_variant,,ENST00000590160,;ZNF223,missense_variant,p.Glu6Gly,ENST00000591793,;	54	57	67	SUCCESS
MARK4	57787	.	GRCh37	19	45797639	45797639	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	81	0	ENST00000262891.4:c.1527A>G	p.Arg509=	p.R509=	ENST00000262891	NM_001199867.1	509	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS56097.1	1527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGAAACAC	NONE	.	.	hmmpanther:PTHR24346:SF22,hmmpanther:PTHR24346	.	.	ENSP00000262891	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000262891	Transcript	.	.	ENSG00000007047	13538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARK4_HUMAN	MARK4	HGNC	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN	.	UPI0000044D47	SNV	MARK4,synonymous_variant,p.%3D,ENST00000262891,;MARK4,synonymous_variant,p.%3D,ENST00000300843,;	1858	81	99	SUCCESS
ATF5	22809	.	GRCh37	19	50434173	50434173	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	51	135	0	ENST00000423777.2:c.66A>C	p.Gly22=	p.G22=	ENST00000423777	NM_001193646.1	22	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS12789.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGATGGCT	NONE	.	.	hmmpanther:PTHR13044:SF3,hmmpanther:PTHR13044	.	.	ENSP00000396954	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000423777	Transcript	.	.	ENSG00000169136	790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATF5_HUMAN	ATF5	HGNC	M0R040_HUMAN,M0QZD2_HUMAN	.	UPI000003842F	SNV	ATF5,synonymous_variant,p.%3D,ENST00000597227,;ATF5,synonymous_variant,p.%3D,ENST00000600336,;ATF5,synonymous_variant,p.%3D,ENST00000423777,;ATF5,synonymous_variant,p.%3D,ENST00000596658,;ATF5,synonymous_variant,p.%3D,ENST00000595125,;NUP62,upstream_gene_variant,,ENST00000422090,;IL4I1,upstream_gene_variant,,ENST00000597295,;IL4I1,upstream_gene_variant,,ENST00000596022,;IL4I1,upstream_gene_variant,,ENST00000341114,;NUP62,upstream_gene_variant,,ENST00000599567,;NUP62,upstream_gene_variant,,ENST00000594673,;NUP62,upstream_gene_variant,,ENST00000413454,;NUP62,upstream_gene_variant,,ENST00000597723,;IL4I1,upstream_gene_variant,,ENST00000596011,;NUP62,upstream_gene_variant,,ENST00000596437,;NUP62,upstream_gene_variant,,ENST00000596217,;NUP62,upstream_gene_variant,,ENST00000599788,;NUP62,upstream_gene_variant,,ENST00000596680,;IL4I1,upstream_gene_variant,,ENST00000595948,;NUP62,upstream_gene_variant,,ENST00000352066,;NUP62,upstream_gene_variant,,ENST00000597029,;NUP62,upstream_gene_variant,,ENST00000593652,;NUP62,upstream_gene_variant,,ENST00000600935,;MIR4751,upstream_gene_variant,,ENST00000578027,;NUP62,upstream_gene_variant,,ENST00000599830,;NUP62,upstream_gene_variant,,ENST00000601665,;NUP62,upstream_gene_variant,,ENST00000595463,;NUP62,upstream_gene_variant,,ENST00000599560,;NUP62,upstream_gene_variant,,ENST00000600583,;NUP62,upstream_gene_variant,,ENST00000597814,;NUP62,upstream_gene_variant,,ENST00000599186,;NUP62,upstream_gene_variant,,ENST00000598301,;CTC-326K19.6,intron_variant,,ENST00000451973,;IL4I1,upstream_gene_variant,,ENST00000601717,;	443	135	140	SUCCESS
HNRNPM	4670	.	GRCh37	19	8550614	8550614	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs531035663	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	35	77	0	ENST00000325495.4:c.1302del	p.Ile434MetfsTer94	p.I434Mfs*94	ENST00000325495	NM_005968.4	434	atC/at	0	.	T:0	.	T:0	.	-	I/X	protein_coding	YES	CCDS12203.1	1302	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGATCGAGCG	NONE	by1000G	.	hmmpanther:PTHR23003,hmmpanther:PTHR23003:SF6	T:0	.	ENSP00000325376	T:0	14/16	.	.	.	.	.	.	.	.	rs531035663	14/16	PASS	ENST00000325495	Transcript	.	T:0.0002	ENSG00000099783	5046	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.001	.	.	HNRPM_HUMAN	HNRNPM	HGNC	Q8TCM5_HUMAN,Q7KYM9_HUMAN	.	UPI000006E7A2	deletion	HNRNPM,frameshift_variant,p.Ile434MetfsTer94,ENST00000325495,;HNRNPM,frameshift_variant,p.Ile202MetfsTer94,ENST00000597270,;HNRNPM,frameshift_variant,p.Ile395MetfsTer94,ENST00000348943,;HNRNPM,upstream_gene_variant,,ENST00000596295,;HNRNPM,downstream_gene_variant,,ENST00000594907,;HNRNPM,upstream_gene_variant,,ENST00000598999,;PRAM1,downstream_gene_variant,,ENST00000255612,;PRAM1,downstream_gene_variant,,ENST00000423345,;HNRNPM,downstream_gene_variant,,ENST00000600092,;HNRNPM,non_coding_transcript_exon_variant,,ENST00000597081,;HNRNPM,upstream_gene_variant,,ENST00000602219,;HNRNPM,3_prime_UTR_variant,,ENST00000600806,;PRAM1,downstream_gene_variant,,ENST00000599698,;HNRNPM,downstream_gene_variant,,ENST00000598603,;PRAM1,downstream_gene_variant,,ENST00000594696,;	1343	77	141	SUCCESS
TNFRSF4	7293	.	GRCh37	1	1148457	1148457	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	82	0	ENST00000379236.3:c.285G>C	p.Arg95=	p.R95=	ENST00000379236	NM_003327.3	95	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS11.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCGCTC	NONE	.	.	PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF12,PROSITE_patterns:PS00652,Pfam_domain:PF00020,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586	.	.	ENSP00000368538	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000379236	Transcript	.	.	ENSG00000186827	11918	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR4_HUMAN	TNFRSF4	HGNC	.	.	UPI00001370E5	SNV	TNFRSF4,synonymous_variant,p.%3D,ENST00000379236,;SDF4,downstream_gene_variant,,ENST00000263741,;SDF4,downstream_gene_variant,,ENST00000360001,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;SDF4,downstream_gene_variant,,ENST00000465727,;SDF4,downstream_gene_variant,,ENST00000494748,;SDF4,downstream_gene_variant,,ENST00000478938,;	290	82	98	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	66	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE|VARSCANS	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	66	61	SUCCESS
AADACL3	126767	.	GRCh37	1	12785873	12785873	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	103	0	ENST00000359318.5:c.963A>G	p.Gly321=	p.G321=	ENST00000359318	NM_001103170.1	321	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41253.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGAGTGCT	NONE	.	.	hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF107,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474	.	.	ENSP00000352268	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000359318	Transcript	.	.	ENSG00000188984	32037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCL3_HUMAN	AADACL3	HGNC	.	.	UPI00001611D0	SNV	AADACL3,synonymous_variant,p.%3D,ENST00000359318,;AADACL3,synonymous_variant,p.%3D,ENST00000332530,;	1168	103	107	SUCCESS
PRAMEF12	390999	.	GRCh37	1	12835197	12835197	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	44	158	0	ENST00000357726.4:c.187T>C	p.Cys63Arg	p.C63R	ENST00000357726	NM_001080830.1	63	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS41254.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTGCCTT	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286	.	.	ENSP00000350358	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000357726	Transcript	.	.	ENSG00000116726	22125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	PRA12_HUMAN	PRAMEF12	HGNC	.	.	UPI000013A190	SNV	PRAMEF12,missense_variant,p.Cys63Arg,ENST00000357726,;	214	158	199	SUCCESS
POLR3C	10623	.	GRCh37	1	145608260	145608260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	20	62	0	ENST00000334163.3:c.437A>G	p.Asn146Ser	p.N146S	ENST00000334163	NM_006468.6	146	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS921.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGTTTGAT	NONE	.	.	hmmpanther:PTHR12949,Pfam_domain:PF05645	.	.	ENSP00000334564	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000334163	Transcript	.	.	ENSG00000186141	30076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.88)	.	RPC3_HUMAN	POLR3C	HGNC	.	.	UPI0000071E0F	SNV	POLR3C,missense_variant,p.Asn146Ser,ENST00000369294,;POLR3C,missense_variant,p.Asn146Ser,ENST00000334163,;RNF115,upstream_gene_variant,,ENST00000369291,;POLR3C,non_coding_transcript_exon_variant,,ENST00000466003,;POLR3C,non_coding_transcript_exon_variant,,ENST00000471254,;RNF115,upstream_gene_variant,,ENST00000539368,;RNF115,upstream_gene_variant,,ENST00000542738,;	598	62	119	SUCCESS
ASH1L	55870	.	GRCh37	1	155311812	155311812	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	63	120	0	ENST00000368346.3:c.8390T>G	p.Ile2797Ser	p.I2797S	ENST00000368346		2797	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS1113.2	8375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGATCTTG	NONE	.	.	PROSITE_profiles:PS51038,SMART_domains:SM00439	.	.	ENSP00000376204	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.189)	.	deleterious_low_confidence(0)	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Ile2797Ser,ENST00000368346,;ASH1L,missense_variant,p.Ile2792Ser,ENST00000392403,;MIR555,downstream_gene_variant,,ENST00000384987,;ASH1L,downstream_gene_variant,,ENST00000478837,;ASH1L,downstream_gene_variant,,ENST00000492987,;ASH1L,downstream_gene_variant,,ENST00000548566,;	8854	120	174	SUCCESS
KIRREL	0	.	GRCh37	1	158046019	158046019	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs752022419	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	55	89	0	ENST00000359209.6:c.171del	p.Leu58TrpfsTer73	p.L58Wfs*73	ENST00000359209		57	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS1172.2	169	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGACGGGCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	2/15	.	.	.	.	.	.	.	.	rs752022419	2/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	deletion	KIRREL,frameshift_variant,p.Leu58TrpfsTer73,ENST00000368173,;KIRREL,frameshift_variant,p.Leu58TrpfsTer73,ENST00000359209,;KIRREL,frameshift_variant,p.Leu58TrpfsTer65,ENST00000392272,;KIRREL,5_prime_UTR_variant,,ENST00000360089,;KIRREL,intron_variant,,ENST00000416935,;	236	89	191	SUCCESS
C1orf132	0	.	GRCh37	1	207975860	207975860	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	298	179	412	0	ENST00000608023.1:n.14148A>C		p.*4716*	ENST00000608023				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTTCCAG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000608023	Transcript	.	.	ENSG00000203709	32018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C1orf132	HGNC	.	.	.	SNV	C1orf132,non_coding_transcript_exon_variant,,ENST00000385055,;C1orf132,non_coding_transcript_exon_variant,,ENST00000608023,;C1orf132,upstream_gene_variant,,ENST00000385231,;	14148	412	477	SUCCESS
USP48	84196	.	GRCh37	1	22032230	22032230	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	356	103	374	1	ENST00000308271.9:c.2374G>A	p.Asp792Asn	p.D792N	ENST00000308271	NM_032236.5	792	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS30623.1	2374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATCTTCTT	NONE	.	.	PROSITE_profiles:PS51283,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF100	.	.	ENSP00000309262	.	19/27	.	.	.	.	.	.	.	.	COSM904122	19/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.175)	.	tolerated(0.09)	1	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	SNV	USP48,missense_variant,p.Asp804Asn,ENST00000529637,;USP48,missense_variant,p.Asp330Asn,ENST00000374732,;USP48,missense_variant,p.Asp792Asn,ENST00000308271,;USP48,missense_variant,p.Asp792Asn,ENST00000400301,;USP48,upstream_gene_variant,,ENST00000464577,;	3023	375	460	SUCCESS
WNT3A	89780	.	GRCh37	1	228246759	228246759	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	57	0	ENST00000284523.1:c.652T>A	p.Trp218Arg	p.W218R	ENST00000284523	NM_033131.3	218	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS1564.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCTGGTGG	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF88,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000284523	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284523	Transcript	.	.	ENSG00000154342	15983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	WNT3A_HUMAN	WNT3A	HGNC	.	.	UPI000004F0E2	SNV	WNT3A,missense_variant,p.Trp218Arg,ENST00000284523,;WNT3A,missense_variant,p.Trp218Arg,ENST00000366753,;	730	57	69	SUCCESS
DISC1	27185	.	GRCh37	1	232144685	232144685	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773300398	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	106	0	ENST00000439617.2:c.2197C>A	p.Pro733Thr	p.P733T	ENST00000439617	NM_001164540.1	733	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	.	.	2197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATTCCCCCC	NONE	.	.	hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF2	.	.	ENSP00000403888	.	11/13	.	.	.	.	.	.	.	.	rs773300398,COSM1340108	11/13	PASS	ENST00000439617	Transcript	.	.	ENSG00000162946	2888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.12)	0,1	.	DISC1	HGNC	C4P0C8_HUMAN,B1AM64_HUMAN	.	UPI0000458AE0	SNV	DISC1,missense_variant,p.Pro733Thr,ENST00000439617,;DISC1,missense_variant,p.Pro65Thr,ENST00000366637,;DISC1,3_prime_UTR_variant,,ENST00000535983,;DISC1,3_prime_UTR_variant,,ENST00000537876,;DISC1,non_coding_transcript_exon_variant,,ENST00000427560,;DISC1,3_prime_UTR_variant,,ENST00000422590,;	2250	106	98	SUCCESS
EPHB2	2048	.	GRCh37	1	23232505	23232505	+	synonymous_variant	Silent	SNP	C	C	T	rs745346872	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	86	0	ENST00000400191.3:c.1791C>T	p.Ile597=	p.I597=	ENST00000400191	NM_004442.6	597	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS230.1	1794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATCGATCC	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	.	.	ENSP00000363763	.	10/16	.	.	.	.	.	.	.	.	rs745346872,COSM905546,COSM1584188	10/16	PASS	ENST00000374632	Transcript	.	.	ENSG00000133216	3393	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	EPHB2_HUMAN	EPHB2	HGNC	.	.	UPI000016135C	SNV	EPHB2,synonymous_variant,p.%3D,ENST00000374627,;EPHB2,synonymous_variant,p.%3D,ENST00000374632,;EPHB2,synonymous_variant,p.%3D,ENST00000400191,;EPHB2,synonymous_variant,p.%3D,ENST00000374630,;	1807	86	73	SUCCESS
NCDN	23154	.	GRCh37	1	36031090	36031090	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	76	2	ENST00000356090.4:c.2016C>T	p.Gly672=	p.G672=	ENST00000356090	NM_001014839.1	672	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS392.1	2016	SOMATICSNIPER|VARSCANS	.	CTAGGCAGTGT	NONE	.	.	hmmpanther:PTHR13109	.	.	ENSP00000362340	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373243	Transcript	.	.	ENSG00000020129	17597	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCDN_HUMAN	NCDN	HGNC	C9J5H8_HUMAN,B4DJ92_HUMAN	.	UPI000007147C	SNV	NCDN,synonymous_variant,p.%3D,ENST00000373253,;NCDN,synonymous_variant,p.%3D,ENST00000356090,;NCDN,synonymous_variant,p.%3D,ENST00000373243,;NCDN,intron_variant,,ENST00000423723,;NCDN,downstream_gene_variant,,ENST00000437806,;RP4-728D4.2,downstream_gene_variant,,ENST00000444348,;RP4-728D4.2,downstream_gene_variant,,ENST00000425881,;NCDN,downstream_gene_variant,,ENST00000459931,;	2399	78	97	SUCCESS
THRAP3	9967	.	GRCh37	1	36755239	36755239	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1241368025	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	21	99	0	ENST00000354618.5:c.1619A>G	p.Lys540Arg	p.K540R	ENST00000354618	NM_005119.3	540	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS405.1	1619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAAGACCT	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268:SF16,hmmpanther:PTHR15268	.	.	ENSP00000346634	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000354618	Transcript	.	.	ENSG00000054118	22964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.23)	.	TR150_HUMAN	THRAP3	HGNC	E9PML1_HUMAN	.	UPI0000203F28	SNV	THRAP3,missense_variant,p.Lys540Arg,ENST00000354618,;THRAP3,missense_variant,p.Lys540Arg,ENST00000469141,;THRAP3,upstream_gene_variant,,ENST00000466743,;	1843	99	99	SUCCESS
COL9A2	1298	.	GRCh37	1	40770006	40770006	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148912050	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	72	0	ENST00000372748.3:c.1273G>A	p.Val425Ile	p.V425I	ENST00000372748	NM_001852.3	425	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS450.1	1273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACGCCTG	NONE	byCluster	.	hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	T:0.0001	ENSP00000361834	.	24/32	.	.	.	.	.	.	.	.	rs148912050	24/32	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.55)	.	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	SNV	COL9A2,missense_variant,p.Val425Ile,ENST00000372748,;COL9A2,synonymous_variant,p.%3D,ENST00000427563,;COL9A2,non_coding_transcript_exon_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;	1370	72	99	SUCCESS
LRRC41	10489	.	GRCh37	1	46768970	46768970	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs184327209	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	43	109	0	ENST00000343304.6:c.25G>T	p.Ala9Ser	p.A9S	ENST00000343304	NM_006369.4	9	Gcc/Tcc	0	.	A:0	.	A:0	.	A	A/S	protein_coding	YES	CCDS533.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCGCGCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15354:SF1,hmmpanther:PTHR15354	A:0.0089	.	ENSP00000343298	A:0	1/10	.	.	.	.	.	.	.	.	rs184327209	1/10	PASS	ENST00000343304	Transcript	.	A:0.0020	ENSG00000132128	16917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	A:0.001	tolerated_low_confidence(0.32)	.	LRC41_HUMAN	LRRC41	HGNC	.	.	UPI0000225CC7	SNV	LRRC41,missense_variant,p.Ala9Ser,ENST00000343304,;UQCRH,upstream_gene_variant,,ENST00000311672,;UQCRH,upstream_gene_variant,,ENST00000489056,;LRRC41,upstream_gene_variant,,ENST00000469150,;UQCRH,upstream_gene_variant,,ENST00000496387,;UQCRH,upstream_gene_variant,,ENST00000486951,;LRRC41,upstream_gene_variant,,ENST00000498402,;LRRC41,upstream_gene_variant,,ENST00000472710,;	311	109	115	SUCCESS
NRD1	0	.	GRCh37	1	52254955	52254955	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	126	0	ENST00000354831.7:c.3613T>G	p.Phe1205Val	p.F1205V	ENST00000354831	NM_002525.2	1205	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS559.1	3613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAAAGCCC	NONE	.	.	.	.	.	ENSP00000346890	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,missense_variant,p.Phe524Val,ENST00000440943,;NRD1,missense_variant,p.Phe1205Val,ENST00000354831,;NRD1,missense_variant,p.Phe1137Val,ENST00000352171,;NRD1,missense_variant,p.Phe1073Val,ENST00000539524,;OSBPL9,downstream_gene_variant,,ENST00000428468,;OSBPL9,downstream_gene_variant,,ENST00000371710,;OSBPL9,downstream_gene_variant,,ENST00000447887,;OSBPL9,downstream_gene_variant,,ENST00000486942,;OSBPL9,downstream_gene_variant,,ENST00000337809,;OSBPL9,downstream_gene_variant,,ENST00000435686,;OSBPL9,downstream_gene_variant,,ENST00000371714,;OSBPL9,downstream_gene_variant,,ENST00000361556,;OSBPL9,downstream_gene_variant,,ENST00000530544,;OSBPL9,downstream_gene_variant,,ENST00000531828,;OSBPL9,downstream_gene_variant,,ENST00000453295,;OSBPL9,downstream_gene_variant,,ENST00000462759,;RP4-657D16.3,upstream_gene_variant,,ENST00000588291,;RP4-657D16.3,upstream_gene_variant,,ENST00000586761,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000464385,;OSBPL9,downstream_gene_variant,,ENST00000531819,;OSBPL9,downstream_gene_variant,,ENST00000495776,;OSBPL9,downstream_gene_variant,,ENST00000475697,;OSBPL9,downstream_gene_variant,,ENST00000435274,;	3803	126	116	SUCCESS
HOOK1	51361	.	GRCh37	1	60331564	60331564	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	433	223	618	1	ENST00000371208.3:c.1765G>A	p.Glu589Lys	p.E589K	ENST00000371208	NM_015888.4	589	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS612.1	1765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGAAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF33,Pfam_domain:PF05622	.	.	ENSP00000360252	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000371208	Transcript	.	.	ENSG00000134709	19884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	tolerated(0.09)	.	HOOK1_HUMAN	HOOK1	HGNC	B1AK95_HUMAN,A8MU44_HUMAN	.	UPI0000071E61	SNV	HOOK1,missense_variant,p.Glu589Lys,ENST00000371208,;HOOK1,missense_variant,p.Glu547Lys,ENST00000395561,;HOOK1,non_coding_transcript_exon_variant,,ENST00000465876,;HOOK1,non_coding_transcript_exon_variant,,ENST00000466803,;HOOK1,upstream_gene_variant,,ENST00000491135,;HOOK1,downstream_gene_variant,,ENST00000474695,;	2022	619	656	SUCCESS
RPF1	80135	.	GRCh37	1	84955365	84955365	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	91	0	ENST00000370654.5:c.416A>T	p.Gln139Leu	p.Q139L	ENST00000370654	NM_025065.6	139	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS695.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGACTT	NONE	.	.	hmmpanther:PTHR22734:SF1,hmmpanther:PTHR22734	.	.	ENSP00000359688	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000370654	Transcript	.	.	ENSG00000117133	30350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.29)	.	RPF1_HUMAN	RPF1	HGNC	.	.	UPI0000034DF7	SNV	RPF1,missense_variant,p.Gln139Leu,ENST00000370654,;	431	91	85	SUCCESS
SAMHD1	25939	.	GRCh37	20	35540887	35540887	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	71	0	ENST00000262878.4:c.1131A>C	p.Lys377Asn	p.K377N	ENST00000262878	NM_015474.3	377	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS13288.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTTTGTG	NONE	.	.	hmmpanther:PTHR11373:SF4,hmmpanther:PTHR11373,Gene3D:1.10.3210.10,Superfamily_domains:SSF109604	.	.	ENSP00000262878	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000262878	Transcript	1	.	ENSG00000101347	15925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.581)	.	deleterious(0)	.	SAMH1_HUMAN	SAMHD1	HGNC	A6NDZ3_HUMAN	.	UPI0000035DA0	SNV	SAMHD1,missense_variant,p.Lys377Asn,ENST00000262878,;SAMHD1,missense_variant,p.Lys162Asn,ENST00000373694,;	1331	71	93	SUCCESS
CHD6	84181	.	GRCh37	20	40043911	40043911	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	144	0	ENST00000373233.3:c.6854G>C	p.Arg2285Thr	p.R2285T	ENST00000373233	NM_032221.4	2285	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS13317.1	6854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCTCGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000362330	.	34/37	.	.	.	.	.	.	.	.	.	34/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Arg2285Thr,ENST00000373233,;CHD6,upstream_gene_variant,,ENST00000480022,;	7032	144	140	SUCCESS
C21orf54	0	.	GRCh37	21	34540825	34540825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	37	93	0	ENST00000451980.2:c.229C>A	p.Gln77Lys	p.Q77K	ENST00000451980		77	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	.	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTGGGGAG	NONE	.	.	.	.	.	ENSP00000407868	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000451980	Transcript	.	.	ENSG00000229086	1296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.095)	.	.	.	CU054_HUMAN	C21orf54	HGNC	.	.	UPI000019783D	SNV	C21orf54,missense_variant,p.Gln77Lys,ENST00000451980,;	296	93	122	SUCCESS
TTC3	7267	.	GRCh37	21	38510935	38510935	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1424044877	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	24	117	0	ENST00000354749.2:c.1580A>G	p.Gln527Arg	p.Q527R	ENST00000354749		527	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13651.1	1580	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCAATTGA	NONE	.	.	hmmpanther:PTHR17550,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000381981	.	19/46	.	.	.	.	.	.	.	.	.	19/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.766)	.	deleterious(0.04)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Gln509Arg,ENST00000438055,;TTC3,missense_variant,p.Gln527Arg,ENST00000418766,;TTC3,missense_variant,p.Gln217Arg,ENST00000540756,;TTC3,missense_variant,p.Gln527Arg,ENST00000354749,;TTC3,missense_variant,p.Gln527Arg,ENST00000355666,;TTC3,missense_variant,p.Gln527Arg,ENST00000399017,;TTC3,missense_variant,p.Gln527Arg,ENST00000450533,;TTC3,splice_region_variant,,ENST00000479930,;TTC3,splice_region_variant,,ENST00000481605,;TTC3,splice_region_variant,,ENST00000485402,;TTC3,downstream_gene_variant,,ENST00000492275,;TTC3,downstream_gene_variant,,ENST00000494243,;TTC3,downstream_gene_variant,,ENST00000463216,;TTC3,splice_region_variant,,ENST00000476784,;	4327	117	187	SUCCESS
UMODL1	89766	.	GRCh37	21	43531035	43531035	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	138	192	0	ENST00000408910.2:c.1703G>C	p.Gly568Ala	p.G568A	ENST00000408910	NM_001004416.2	568	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS42935.1	1703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGGGGTAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	.	.	ENSP00000386126	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.259)	.	tolerated(0.38)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Gly568Ala,ENST00000408910,;UMODL1,missense_variant,p.Gly568Ala,ENST00000408989,;UMODL1,missense_variant,p.Gly496Ala,ENST00000400424,;UMODL1,missense_variant,p.Gly496Ala,ENST00000400427,;C21orf128,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,;	1703	192	281	SUCCESS
DGCR6	8214	.	GRCh37	22	18893755	18893755	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	16	0	ENST00000331444.6:c.-133G>C		p.*45*	ENST00000331444	NM_005675.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13753.1	.	MUTECT|MUSE	.	CGATCGGGGAC	NONE	.	.	.	.	.	ENSP00000331681	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000331444	Transcript	.	.	ENSG00000183628	2846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DGCR6_HUMAN	DGCR6	HGNC	Q6FGH4_HUMAN	.	UPI000000DBA4	SNV	DGCR6,5_prime_UTR_variant,,ENST00000331444,;DGCR6,intron_variant,,ENST00000413981,;DGCR6,upstream_gene_variant,,ENST00000608842,;DGCR6,upstream_gene_variant,,ENST00000436645,;DGCR6,upstream_gene_variant,,ENST00000477156,;DGCR6,upstream_gene_variant,,ENST00000483718,;DGCR6,upstream_gene_variant,,ENST00000427407,;DGCR6,upstream_gene_variant,,ENST00000480608,;	20	16	15	SUCCESS
ANAPC1	64682	.	GRCh37	2	112540018	112540018	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	306	126	392	1	ENST00000341068.3:c.5130A>C	p.Glu1710Asp	p.E1710D	ENST00000341068	NM_022662.3	1710	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS2093.1	5130	RADIA|SOMATICSNIPER|VARSCANS	.	GGATCTTCTTT	NONE	.	.	hmmpanther:PTHR12827	.	.	ENSP00000339109	.	43/48	.	.	.	.	.	.	.	.	.	43/48	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.018)	.	tolerated(0.29)	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	SNV	ANAPC1,missense_variant,p.Glu1710Asp,ENST00000341068,;ANAPC1,missense_variant,p.Glu1245Asp,ENST00000427997,;ANAPC1,upstream_gene_variant,,ENST00000462785,;	5903	393	433	SUCCESS
FAP	2191	.	GRCh37	2	163027578	163027578	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	20	86	0	ENST00000188790.4:c.2194C>A	p.Gln732Lys	p.Q732K	ENST00000188790	NM_004460.2	732	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS33311.1	2194	RADIA|MUSE|VARSCANS	.	GTTCTGGTCAG	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000188790	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000188790	Transcript	.	.	ENSG00000078098	3590	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	tolerated(1)	.	SEPR_HUMAN	FAP	HGNC	C9J131_HUMAN	.	UPI00000012A2	SNV	FAP,missense_variant,p.Gln732Lys,ENST00000188790,;FAP,missense_variant,p.Gln707Lys,ENST00000443424,;AC007750.5,non_coding_transcript_exon_variant,,ENST00000418968,;AC007750.5,downstream_gene_variant,,ENST00000609668,;FAP,3_prime_UTR_variant,,ENST00000462608,;FAP,3_prime_UTR_variant,,ENST00000422436,;FAP,non_coding_transcript_exon_variant,,ENST00000480044,;FAP,downstream_gene_variant,,ENST00000461506,;	2402	86	101	SUCCESS
SPHKAP	80309	.	GRCh37	2	228996764	228996764	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	69	0	ENST00000392056.3:c.70C>A	p.Pro24Thr	p.P24T	ENST00000392056	NM_001142644.1	24	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46537.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGTTCCA	NONE	.	.	.	.	.	ENSP00000375909	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.37)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Pro24Thr,ENST00000344657,;SPHKAP,missense_variant,p.Pro24Thr,ENST00000392056,;	117	69	67	SUCCESS
MTIF2	4528	.	GRCh37	2	55470681	55470681	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	53	98	0	ENST00000263629.4:c.1435G>T	p.Glu479Ter	p.E479*	ENST00000263629	NM_002453.2	479	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS1853.1	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCACGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,HAMAP:MF_00100_B,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF113	.	.	ENSP00000378099	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000394600	Transcript	.	.	ENSG00000085760	7441	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2M_HUMAN	MTIF2	HGNC	E7EW07_HUMAN,E7ESE3_HUMAN,C9JIY5_HUMAN,B5MCU1_HUMAN	.	UPI000013D42F	SNV	MTIF2,stop_gained,p.Glu157Ter,ENST00000418823,;MTIF2,stop_gained,p.Glu479Ter,ENST00000394600,;MTIF2,stop_gained,p.Glu479Ter,ENST00000403721,;MTIF2,stop_gained,p.Glu479Ter,ENST00000263629,;	2172	98	130	SUCCESS
NR1I2	8856	.	GRCh37	3	119530469	119530469	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1206018744	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	7	120	0	ENST00000393716.2:c.415G>T	p.Gly139Ter	p.G139*	ENST00000393716	NM_003889.3	139	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS2995.1	532	MUTECT|MUSE	.	CACTGGGAGTG	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39	.	.	ENSP00000336528	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337940	Transcript	.	.	ENSG00000144852	7968	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,stop_gained,p.Gly178Ter,ENST00000337940,;NR1I2,stop_gained,p.Gly139Ter,ENST00000466380,;NR1I2,stop_gained,p.Gly139Ter,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;NR1I2,downstream_gene_variant,,ENST00000474090,;	580	120	118	SUCCESS
SLC2A2	6514	.	GRCh37	3	170732428	170732428	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	35	152	0	ENST00000314251.3:c.201G>C	p.Leu67=	p.L67=	ENST00000314251	NM_001278659.1	67	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3215.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCAGTTC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879	.	.	ENSP00000323568	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,synonymous_variant,p.%3D,ENST00000314251,;SLC2A2,intron_variant,,ENST00000461867,;SLC2A2,intron_variant,,ENST00000382808,;SLC2A2,synonymous_variant,p.%3D,ENST00000497642,;SLC2A2,intron_variant,,ENST00000469787,;	281	152	164	SUCCESS
SLC2A2	6514	.	GRCh37	3	170732455	170732457	+	inframe_deletion	In_Frame_Del	DEL	GTT	GTT	-	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	GTT	GTT	.	.	.	.	.	.	.	.	.	.	.	.	.	115	38	134	0	ENST00000314251.3:c.172_174del	p.Asn58del	p.N58del	ENST00000314251	NM_001278659.1	58	AAC/-	0	.	.	.	.	.	-	N/-	protein_coding	YES	CCDS3215.1	172-174	INDELOCATOR*|VARSCANI*|PINDEL	.	AACATAGTTGTTGA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879	.	.	ENSP00000323568	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	deletion	SLC2A2,inframe_deletion,p.Asn58del,ENST00000314251,;SLC2A2,intron_variant,,ENST00000461867,;SLC2A2,intron_variant,,ENST00000382808,;SLC2A2,inframe_deletion,p.Asn58del,ENST00000497642,;SLC2A2,intron_variant,,ENST00000469787,;	252-254	134	153	SUCCESS
VWA5B2	90113	.	GRCh37	3	183959685	183959685	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	74	0	ENST00000426955.2:c.3588C>A	p.Cys1196Ter	p.C1196*	ENST00000426955	NM_138345.1	1196	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS54686.1	3588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGCTGGCT	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,stop_gained,p.Cys978Ter,ENST00000273794,;VWA5B2,stop_gained,p.Cys1196Ter,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;ALG3,downstream_gene_variant,,ENST00000411922,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	3688	74	77	SUCCESS
CYP8B1	1582	.	GRCh37	3	42916016	42916016	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	59	138	0	ENST00000316161.4:c.1293G>T	p.Met431Ile	p.M431I	ENST00000316161	NM_004391.2	431	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS2707.1	1293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCATGGT	NONE	.	.	Prints_domain:PR00465,Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	.	.	ENSP00000318867	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316161	Transcript	.	.	ENSG00000180432	2653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CP8B1_HUMAN	CYP8B1	HGNC	.	.	UPI000013FCE2	SNV	CYP8B1,missense_variant,p.Met431Ile,ENST00000437102,;CYP8B1,missense_variant,p.Met431Ile,ENST00000316161,;KRBOX1,intron_variant,,ENST00000426937,;KRBOX1,intron_variant,,ENST00000451200,;ACKR2,intron_variant,,ENST00000460855,;RP11-141M3.5,intron_variant,,ENST00000471537,;RP11-141M3.5,intron_variant,,ENST00000487368,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;	1618	138	167	SUCCESS
UBE2D3	7323	.	GRCh37	4	103720567	103720568	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	TC	TC	.	.	.	.	.	.	.	.	.	.	.	.	.	442	230	308	0	ENST00000321805.7:c.394_395del	p.Asp132Ter	p.D132*	ENST00000321805	NM_181887.2	132	GAt/t	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS3659.1	400-401	VARSCANI*|PINDEL	.	TACTTATCTCTGT	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF48,hmmpanther:PTHR24068,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000349722	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000357194	Transcript	.	.	ENSG00000109332	12476	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UB2D3_HUMAN	UBE2D3	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN	.	UPI00001B31EA	deletion	UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000453744,;UBE2D3,frameshift_variant,p.Asp103Ter,ENST00000502404,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000321805,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000349311,;UBE2D3,frameshift_variant,p.Asp103Ter,ENST00000505207,;UBE2D3,frameshift_variant,p.Asp134Ter,ENST00000357194,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000343106,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000338145,;UBE2D3,frameshift_variant,p.Asp126Ter,ENST00000350435,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000394804,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000394801,;UBE2D3,frameshift_variant,p.Asp103Ter,ENST00000504211,;UBE2D3,frameshift_variant,p.Asp132Ter,ENST00000394803,;UBE2D3,frameshift_variant,p.Asp103Ter,ENST00000507845,;UBE2D3,downstream_gene_variant,,ENST00000508238,;UBE2D3,downstream_gene_variant,,ENST00000502690,;UBE2D3,downstream_gene_variant,,ENST00000508476,;UBE2D3,downstream_gene_variant,,ENST00000508249,;UBE2D3,3_prime_UTR_variant,,ENST00000505307,;UBE2D3,3_prime_UTR_variant,,ENST00000508635,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508474,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503742,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000505009,;UBE2D3,downstream_gene_variant,,ENST00000503418,;UBE2D3,downstream_gene_variant,,ENST00000510599,;UBE2D3,downstream_gene_variant,,ENST00000508974,;UBE2D3,downstream_gene_variant,,ENST00000508818,;UBE2D3,downstream_gene_variant,,ENST00000502563,;UBE2D3,downstream_gene_variant,,ENST00000514755,;UBE2D3,downstream_gene_variant,,ENST00000510129,;	552-553	308	672	SUCCESS
SYNPO2	171024	.	GRCh37	4	119947953	119947953	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	194	64	177	0	ENST00000429713.2:c.429T>A	p.Ala143=	p.A143=	ENST00000429713	NM_001128933.1	143	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34054.1	429	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGCTGAGAA	NONE	.	.	hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	3/5	.	.	.	.	.	.	.	.	COSM480787,COSM480788	3/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,synonymous_variant,p.%3D,ENST00000434046,;SYNPO2,synonymous_variant,p.%3D,ENST00000307142,;SYNPO2,synonymous_variant,p.%3D,ENST00000429713,;SYNPO2,synonymous_variant,p.%3D,ENST00000504178,;SYNPO2,intron_variant,,ENST00000448416,;	625	177	258	SUCCESS
FAT4	79633	.	GRCh37	4	126237717	126237717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	47	78	0	ENST00000394329.3:c.151G>T	p.Val51Leu	p.V51L	ENST00000394329	NM_024582.4	51	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS3732.3	151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGTGCTG	NONE	.	.	PROSITE_profiles:PS50268,Gene3D:2.60.40.60	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Val51Leu,ENST00000394329,;	164	78	89	SUCCESS
TMEM192	201931	.	GRCh37	4	166033978	166033978	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	64	126	0	ENST00000306480.6:c.-53G>T		p.*18*	ENST00000306480	NM_001100389.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43279.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACCTGTAA	NONE	.	.	.	.	.	ENSP00000305069	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000306480	Transcript	.	.	ENSG00000170088	26775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM192_HUMAN	TMEM192	HGNC	D6RAZ6_HUMAN	.	UPI00000742A4	SNV	TMEM192,5_prime_UTR_variant,,ENST00000505095,;TMEM192,5_prime_UTR_variant,,ENST00000306480,;TMEM192,intron_variant,,ENST00000506087,;	94	126	220	SUCCESS
TLL1	7092	.	GRCh37	4	166978381	166978381	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750536542	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	90	110	0	ENST00000061240.2:c.1766G>A	p.Arg589Gln	p.R589Q	ENST00000061240	NM_012464.4	589	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3811.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGATGTC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,PROSITE_patterns:PS01187,Pfam_domain:PF14670,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001199,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000061240	.	14/21	.	.	.	.	.	.	.	.	rs750536542,COSM3601726	14/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.172)	.	tolerated(0.1)	0,1	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Arg589Gln,ENST00000061240,;TLL1,missense_variant,p.Arg612Gln,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2413	110	135	SUCCESS
KIAA1211	0	.	GRCh37	4	57164426	57164426	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762283368	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	85	105	0	ENST00000504228.1:c.31A>T	p.Ile11Phe	p.I11F	ENST00000504228		11	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS43230.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTATTTTT	NONE	.	.	.	.	.	ENSP00000423366	.	2/9	.	.	.	.	.	.	.	.	rs762283368	2/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,missense_variant,p.Ile11Phe,ENST00000504228,;KIAA1211,missense_variant,p.Ile11Phe,ENST00000264229,;KIAA1211,5_prime_UTR_variant,,ENST00000541073,;KIAA1211,non_coding_transcript_exon_variant,,ENST00000503618,;	136	105	137	SUCCESS
MCC	4163	.	GRCh37	5	112823977	112823977	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764901797	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	59	0	ENST00000408903.3:c.135G>C	p.Gln45His	p.Q45H	ENST00000408903	NM_001085377.1	45	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS43351.1	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGTCTGGAA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF4,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000386227	.	1/19	.	.	.	.	.	.	.	.	rs764901797	1/19	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0)	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,missense_variant,p.Gln45His,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000511242,;	551	59	48	SUCCESS
ANKH	56172	.	GRCh37	5	14713763	14713763	+	synonymous_variant	Silent	SNP	C	C	T	rs146419748	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	63	1	ENST00000284268.6:c.1155G>A	p.Ala385=	p.A385=	ENST00000284268	NM_054027.4	385	gcG/gcA	0	.	T:0	.	T:0.0014	.	T	A	protein_coding	YES	CCDS3885.1	1155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCGCCCT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000284268	T:0.001	10/12	.	.	.	.	.	.	.	.	rs146419748,COSM259424	10/12	PASS	ENST00000284268	Transcript	1	T:0.0004	ENSG00000154122	15492	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	ANKH_HUMAN	ANKH	HGNC	B3KMG4_HUMAN	.	UPI000003F535	SNV	ANKH,synonymous_variant,p.%3D,ENST00000535119,;ANKH,synonymous_variant,p.%3D,ENST00000284268,;ANKH,non_coding_transcript_exon_variant,,ENST00000502585,;	1486	64	67	SUCCESS
FAF2	23197	.	GRCh37	5	175923517	175923517	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	44	100	0	ENST00000261942.6:c.692C>A	p.Pro231Gln	p.P231Q	ENST00000261942	NM_014613.2	231	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS34296.1	692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCCATTCC	NONE	.	.	Superfamily_domains:SSF52833,SMART_domains:SM00594,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF23	.	.	ENSP00000261942	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000261942	Transcript	.	.	ENSG00000113194	24666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	FAF2_HUMAN	FAF2	HGNC	.	.	UPI000007478A	SNV	FAF2,missense_variant,p.Pro231Gln,ENST00000261942,;FAF2,non_coding_transcript_exon_variant,,ENST00000513627,;FAF2,non_coding_transcript_exon_variant,,ENST00000504983,;	745	100	144	SUCCESS
MICAL1	64780	.	GRCh37	6	109771627	109771627	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	61	141	0	ENST00000358807.3:c.1067A>T	p.His356Leu	p.H356L	ENST00000358807	NM_022765.3	356	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5076.1	1067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCATGGGCA	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF259	.	.	ENSP00000351664	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000358807	Transcript	.	.	ENSG00000135596	20619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.27)	.	MICA1_HUMAN	MICAL1	HGNC	Q5TED7_HUMAN,H0UI45_HUMAN	.	UPI00000745D0	SNV	MICAL1,missense_variant,p.His356Leu,ENST00000358807,;MICAL1,missense_variant,p.His375Leu,ENST00000368952,;MICAL1,intron_variant,,ENST00000358577,;MICAL1,downstream_gene_variant,,ENST00000431946,;MICAL1,upstream_gene_variant,,ENST00000433205,;MICAL1,downstream_gene_variant,,ENST00000483856,;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,;MICAL1,upstream_gene_variant,,ENST00000465904,;	1379	141	161	SUCCESS
ZBTB24	9841	.	GRCh37	6	109803061	109803061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	55	134	0	ENST00000230122.3:c.169G>T	p.Ala57Ser	p.A57S	ENST00000230122	NM_014797.2	57	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34509.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCAGCAA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24375:SF3,hmmpanther:PTHR24375,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000230122	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000230122	Transcript	.	.	ENSG00000112365	21143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(0.08)	.	ZBT24_HUMAN	ZBTB24	HGNC	.	.	UPI000013C924	SNV	ZBTB24,missense_variant,p.Ala57Ser,ENST00000230122,;	337	134	163	SUCCESS
SERINC1	57515	.	GRCh37	6	122777722	122777722	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778207588	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	20	143	0	ENST00000339697.4:c.275G>A	p.Arg92His	p.R92H	ENST00000339697	NM_020755.2	92	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5125.1	275	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACGATAT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF15,Pfam_domain:PF03348	.	.	ENSP00000342962	.	3/10	.	.	.	.	.	.	.	.	rs778207588,COSM3828953	3/10	PASS	ENST00000339697	Transcript	.	.	ENSG00000111897	13464	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(1)	.	deleterious(0.01)	0,1	SERC1_HUMAN	SERINC1	HGNC	.	.	UPI000004E6A2	SNV	SERINC1,missense_variant,p.Arg92His,ENST00000339697,;	360	143	167	SUCCESS
RMND1	55005	.	GRCh37	6	151748616	151748616	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs773470671	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	62	0	ENST00000367303.4:c.830+1G>A		p.X277_splice	ENST00000367303	NM_017909.3	277		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5232.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTACTCTAT	NONE	byFrequency	.	.	.	.	ENSP00000356272	.	.	.	.	.	.	.	.	.	.	rs773470671	.	PASS	ENST00000367303	Transcript	.	.	ENSG00000155906	21176	.	.	HIGH	6/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RMND1_HUMAN	RMND1	HGNC	Q5SZ82_HUMAN	.	UPI00001AEAE1	SNV	RMND1,splice_donor_variant,,ENST00000444024,;RMND1,splice_donor_variant,,ENST00000336451,;RMND1,splice_donor_variant,,ENST00000367303,;	.	62	82	SUCCESS
SYNE1	23345	.	GRCh37	6	152540223	152540223	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	65	0	ENST00000367255.5:c.21959C>T	p.Ser7320Leu	p.S7320L	ENST00000367255	NM_182961.3	7320	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS5236.2	21959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGATGCT	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	120/146	.	.	.	.	.	.	.	.	.	120/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Ser1844Leu,ENST00000356820,;SYNE1,missense_variant,p.Ser7249Leu,ENST00000448038,;SYNE1,missense_variant,p.Ser7320Leu,ENST00000367255,;SYNE1,missense_variant,p.Ser7249Leu,ENST00000423061,;SYNE1,missense_variant,p.Ser6932Leu,ENST00000341594,;SYNE1,missense_variant,p.Ser7320Leu,ENST00000265368,;SYNE1,missense_variant,p.Ser242Leu,ENST00000367251,;SYNE1,upstream_gene_variant,,ENST00000367257,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	22561	65	89	SUCCESS
SYNE1	23345	.	GRCh37	6	152631131	152631131	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	40	1	ENST00000367255.5:c.17041T>C	p.Ser5681Pro	p.S5681P	ENST00000367255	NM_182961.3	5681	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS5236.2	17041	MUTECT|MUSE	.	CAGTGACTCCA	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	90/146	.	.	.	.	.	.	.	.	.	90/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Ser205Pro,ENST00000356820,;SYNE1,missense_variant,p.Ser5610Pro,ENST00000448038,;SYNE1,missense_variant,p.Ser5681Pro,ENST00000367255,;SYNE1,missense_variant,p.Ser5610Pro,ENST00000423061,;SYNE1,missense_variant,p.Ser5293Pro,ENST00000341594,;SYNE1,missense_variant,p.Ser5681Pro,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	17643	41	30	SUCCESS
OPRM1	4988	.	GRCh37	6	154428655	154428655	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	66	0	ENST00000330432.7:c.1165-11163A>G		p.*389*	ENST00000330432	NM_000914.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47503.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTACAATG	NONE	.	.	.	.	.	ENSP00000394624	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Tyr407Cys,ENST00000419506,;OPRM1,intron_variant,,ENST00000522236,;OPRM1,intron_variant,,ENST00000337049,;OPRM1,intron_variant,,ENST00000452687,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,intron_variant,,ENST00000330432,;OPRM1,intron_variant,,ENST00000435918,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000522555,;OPRM1,intron_variant,,ENST00000414028,;OPRM1,intron_variant,,ENST00000434900,;OPRM1,intron_variant,,ENST00000524163,;OPRM1,intron_variant,,ENST00000519613,;OPRM1,intron_variant,,ENST00000524150,;OPRM1,intron_variant,,ENST00000522739,;OPRM1,intron_variant,,ENST00000519083,;	.	66	95	SUCCESS
ITPR3	3710	.	GRCh37	6	33638235	33638235	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	56	0	ENST00000374316.5:c.2323G>T	p.Ala775Ser	p.A775S	ENST00000374316		775	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4783.1	2323	RADIA|MUTECT|MUSE	.	TGCGCGCCTCC	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715,Prints_domain:PR00779	.	.	ENSP00000363435	.	20/59	.	.	.	.	.	.	.	.	COSM3873248,COSM3873249	20/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Ala775Ser,ENST00000374316,;ITPR3,missense_variant,p.Ala775Ser,ENST00000605930,;	3383	56	61	SUCCESS
CNPY3	10695	.	GRCh37	6	42905826	42905827	+	splice_acceptor_variant	Splice_Site	DEL	AG	AG	-	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	172	34	151	0	ENST00000372836.4:c.496-2_496-1del		p.X166_splice	ENST00000372836	NM_006586.3	166		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4875.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTAACAGTGTGA	NONE	.	.	.	.	.	ENSP00000361926	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372836	Transcript	.	.	ENSG00000137161	11968	.	.	HIGH	4/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNPY3_HUMAN	CNPY3	HGNC	.	.	UPI000004C625	deletion	CNPY3,splice_acceptor_variant,,ENST00000394142,;CNPY3,splice_acceptor_variant,,ENST00000372836,;RP3-475N16.1,upstream_gene_variant,,ENST00000450671,;	.	151	206	SUCCESS
PHF3	23469	.	GRCh37	6	64395889	64395889	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	12	0	ENST00000262043.3:c.2189+77A>G		p.*730*	ENST00000262043				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4966.1	.	MUTECT|MUSE	.	TGAGAATTGTT	NONE	.	.	.	.	.	ENSP00000262043	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262043	Transcript	.	.	ENSG00000118482	8921	.	.	MODIFIER	4/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHF3_HUMAN	PHF3	HGNC	E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN	.	UPI000007154D	SNV	PHF3,3_prime_UTR_variant,,ENST00000509330,;PHF3,intron_variant,,ENST00000393387,;PHF3,intron_variant,,ENST00000506783,;PHF3,intron_variant,,ENST00000481385,;PHF3,intron_variant,,ENST00000515594,;PHF3,intron_variant,,ENST00000262043,;PHF3,intron_variant,,ENST00000494284,;PHF3,downstream_gene_variant,,ENST00000514822,;PHF3,intron_variant,,ENST00000509876,;	.	12	23	SUCCESS
CALD1	800	.	GRCh37	7	134644750	134644750	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	77	182	0	ENST00000361675.2:c.2087A>C	p.Lys696Thr	p.K696T	ENST00000361675		696	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS5835.1	2087	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAAGCCGG	NONE	.	.	hmmpanther:PTHR18949:SF0,hmmpanther:PTHR18949,Pfam_domain:PF02029,Prints_domain:PR01076	.	.	ENSP00000354826	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000361675	Transcript	.	.	ENSG00000122786	1441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	CALD1_HUMAN	CALD1	HGNC	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN	.	UPI0000140A64	SNV	CALD1,missense_variant,p.Lys461Thr,ENST00000393118,;CALD1,missense_variant,p.Lys441Thr,ENST00000361901,;CALD1,missense_variant,p.Lys466Thr,ENST00000422748,;CALD1,missense_variant,p.Lys696Thr,ENST00000361675,;CALD1,missense_variant,p.Lys446Thr,ENST00000543443,;CALD1,missense_variant,p.Lys460Thr,ENST00000495522,;CALD1,missense_variant,p.Lys441Thr,ENST00000417172,;CALD1,missense_variant,p.Lys467Thr,ENST00000361388,;CALD1,missense_variant,p.Lys435Thr,ENST00000424922,;CALD1,missense_variant,p.Lys441Thr,ENST00000436461,;CALD1,non_coding_transcript_exon_variant,,ENST00000466704,;CALD1,missense_variant,p.Lys435Thr,ENST00000443197,;CALD1,3_prime_UTR_variant,,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;CALD1,upstream_gene_variant,,ENST00000473714,;	2316	182	194	SUCCESS
SP8	221833	.	GRCh37	7	20824970	20824970	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1562606871	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	5	66	0	ENST00000361443.4:c.412G>A	p.Gly138Ser	p.G138S	ENST00000361443	NM_198956.2	138	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS43555.1	466	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134	.	.	ENSP00000408792	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000418710	Transcript	.	.	ENSG00000164651	19196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.76)	.	SP8_HUMAN	SP8	HGNC	.	.	UPI00001AADF2	SNV	SP8,missense_variant,p.Gly156Ser,ENST00000418710,;SP8,missense_variant,p.Gly138Ser,ENST00000361443,;	554	66	68	SUCCESS
LFNG	3955	.	GRCh37	7	2564371	2564371	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	88	213	0	ENST00000222725.5:c.475C>T	p.His159Tyr	p.H159Y	ENST00000222725	NM_001040167.1	159	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS34587.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCACACG	NONE	.	.	PIRSF_domain:PIRSF038073,Pfam_domain:PF02434,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF7	.	.	ENSP00000222725	.	2/8	.	.	.	.	.	.	.	.	COSM3942163,COSM3942161,COSM3942162	2/8	PASS	ENST00000222725	Transcript	.	.	ENSG00000106003	6560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.079)	.	deleterious(0.05)	1,1,1	LFNG_HUMAN	LFNG	HGNC	.	.	UPI000012E5D5	SNV	LFNG,missense_variant,p.His88Tyr,ENST00000402506,;LFNG,missense_variant,p.His30Tyr,ENST00000402045,;LFNG,missense_variant,p.His159Tyr,ENST00000222725,;LFNG,missense_variant,p.His30Tyr,ENST00000338732,;LFNG,missense_variant,p.His159Tyr,ENST00000359574,;MIR4648,upstream_gene_variant,,ENST00000580107,;LFNG,non_coding_transcript_exon_variant,,ENST00000493850,;	495	213	257	SUCCESS
ANLN	54443	.	GRCh37	7	36447554	36447554	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	78	0	ENST00000265748.2:c.1085C>A	p.Ser362Tyr	p.S362Y	ENST00000265748	NM_018685.2	362	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS5447.1	1085	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCTACGA	NONE	.	.	hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20	.	.	ENSP00000265748	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000265748	Transcript	.	.	ENSG00000011426	14082	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.521)	.	deleterious(0.03)	.	ANLN_HUMAN	ANLN	HGNC	C9JJT6_HUMAN	.	UPI00001A95DE	SNV	ANLN,missense_variant,p.Ser362Tyr,ENST00000396068,;ANLN,missense_variant,p.Ser362Tyr,ENST00000265748,;ANLN,upstream_gene_variant,,ENST00000428612,;ANLN,downstream_gene_variant,,ENST00000424865,;ANLN,non_coding_transcript_exon_variant,,ENST00000495714,;ANLN,downstream_gene_variant,,ENST00000460598,;ANLN,3_prime_UTR_variant,,ENST00000441696,;ANLN,3_prime_UTR_variant,,ENST00000429082,;ANLN,3_prime_UTR_variant,,ENST00000452877,;	1306	78	105	SUCCESS
WBSCR17	0	.	GRCh37	7	70800596	70800596	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140476927	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	53	0	ENST00000333538.5:c.299C>T	p.Pro100Leu	p.P100L	ENST00000333538	NM_022479.2	100	cCg/cTg	0	T:0.0002	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS5540.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCGGCTA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38	T:0	T:0.0002	ENSP00000329654	T:0.001	2/11	.	.	.	.	.	.	.	.	rs140476927,COSM1270359	2/11	PASS	ENST00000333538	Transcript	.	T:0.0002	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.05)	T:0	deleterious(0.03)	0,1	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Pro100Leu,ENST00000333538,;WBSCR17,missense_variant,p.Pro78Leu,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	933	53	76	SUCCESS
BCL7B	9275	.	GRCh37	7	72951654	72951654	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	99	1	ENST00000223368.2:c.583G>T	p.Val195Leu	p.V195L	ENST00000223368	NM_001707.3	195	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS5550.1	583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCACTGTGG	NONE	.	.	hmmpanther:PTHR12767:SF5,hmmpanther:PTHR12767	.	.	ENSP00000223368	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000223368	Transcript	.	.	ENSG00000106635	1005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	deleterious_low_confidence(0.01)	.	BCL7B_HUMAN	BCL7B	HGNC	F2Z3H6_HUMAN	.	UPI000006FE5A	SNV	BCL7B,missense_variant,p.Val195Leu,ENST00000223368,;BCL7B,missense_variant,p.Val138Leu,ENST00000411832,;BCL7B,non_coding_transcript_exon_variant,,ENST00000463858,;BCL7B,non_coding_transcript_exon_variant,,ENST00000493679,;BCL7B,non_coding_transcript_exon_variant,,ENST00000482231,;BCL7B,non_coding_transcript_exon_variant,,ENST00000464288,;BCL7B,3_prime_UTR_variant,,ENST00000454871,;BCL7B,3_prime_UTR_variant,,ENST00000416906,;BCL7B,3_prime_UTR_variant,,ENST00000455335,;BCL7B,3_prime_UTR_variant,,ENST00000448175,;BCL7B,non_coding_transcript_exon_variant,,ENST00000493671,;BCL7B,non_coding_transcript_exon_variant,,ENST00000486818,;BCL7B,downstream_gene_variant,,ENST00000493592,;BCL7B,downstream_gene_variant,,ENST00000481667,;	1007	100	90	SUCCESS
WBSCR28	0	.	GRCh37	7	73280168	73280168	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	32	0	ENST00000320531.2:c.763A>G	p.Thr255Ala	p.T255A	ENST00000320531	NM_182504.3	255	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS43597.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAACAGTT	NONE	.	.	Pfam_domain:PF15164	.	.	ENSP00000316775	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000320531	Transcript	.	.	ENSG00000175877	23018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	WBS28_HUMAN	WBSCR28	HGNC	.	.	UPI00001408E5	SNV	WBSCR28,missense_variant,p.Thr255Ala,ENST00000320531,;WBSCR28,3_prime_UTR_variant,,ENST00000426490,;	799	32	32	SUCCESS
MAGI2	9863	.	GRCh37	7	77755020	77755020	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	87	1	ENST00000354212.4:c.3558G>T	p.Gly1186=	p.G1186=	ENST00000354212	NM_012301.3	1186	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5594.1	3558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCCCATT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000346151	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,synonymous_variant,p.%3D,ENST00000354212,;MAGI2,synonymous_variant,p.%3D,ENST00000419488,;MAGI2,synonymous_variant,p.%3D,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;	3812	88	77	SUCCESS
OR2AE1	81392	.	GRCh37	7	99474131	99474131	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1355723121	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	88	1	ENST00000316368.2:c.526C>G	p.His176Asp	p.H176D	ENST00000316368	NM_001005276.1	176	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS34696.1	526	MUTECT|MUSE|VARSCANS	.	GAAGTGGTAGA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF196,PROSITE_profiles:PS50262	.	.	ENSP00000313936	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316368	Transcript	.	.	ENSG00000244623	15087	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O2AE1_HUMAN	OR2AE1	HGNC	.	.	UPI000004B1E7	SNV	OR2AE1,missense_variant,p.His176Asp,ENST00000316368,;TRIM4,downstream_gene_variant,,ENST00000447480,;CYP3A52P,downstream_gene_variant,,ENST00000563326,;	550	90	89	SUCCESS
TAF6	6878	.	GRCh37	7	99704953	99704953	+	synonymous_variant	Silent	SNP	A	A	G	rs923870842	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	34	0	ENST00000344095.4:c.1950T>C	p.Ala650=	p.A650=	ENST00000344095	NM_005641.3	650	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS55135.1	2061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGCCTC	NONE	.	.	hmmpanther:PTHR10221,hmmpanther:PTHR10221:SF10	.	.	ENSP00000399982	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000437822	Transcript	.	.	ENSG00000106290	11540	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF6_HUMAN	TAF6	HGNC	C9JTY6_HUMAN,C9JIS2_HUMAN,C9JHQ8_HUMAN,C9J7C4_HUMAN,A4D299_HUMAN	.	UPI00017A7AA3	SNV	TAF6,synonymous_variant,p.%3D,ENST00000437822,;TAF6,synonymous_variant,p.%3D,ENST00000452041,;TAF6,synonymous_variant,p.%3D,ENST00000344095,;TAF6,synonymous_variant,p.%3D,ENST00000418432,;TAF6,synonymous_variant,p.%3D,ENST00000453269,;TAF6,synonymous_variant,p.%3D,ENST00000472509,;AP4M1,intron_variant,,ENST00000450807,;AP4M1,intron_variant,,ENST00000421755,;AP4M1,downstream_gene_variant,,ENST00000422582,;AP4M1,downstream_gene_variant,,ENST00000359593,;AP4M1,downstream_gene_variant,,ENST00000438383,;AP4M1,downstream_gene_variant,,ENST00000429084,;AP4M1,downstream_gene_variant,,ENST00000439416,;AP4M1,downstream_gene_variant,,ENST00000445295,;TAF6,downstream_gene_variant,,ENST00000440225,;TAF6,downstream_gene_variant,,ENST00000493322,;AP4M1,downstream_gene_variant,,ENST00000495154,;AP4M1,downstream_gene_variant,,ENST00000478501,;AP4M1,3_prime_UTR_variant,,ENST00000416938,;TAF6,3_prime_UTR_variant,,ENST00000421980,;AP4M1,downstream_gene_variant,,ENST00000446007,;AP4M1,downstream_gene_variant,,ENST00000445208,;AP4M1,downstream_gene_variant,,ENST00000463195,;AP4M1,downstream_gene_variant,,ENST00000394061,;TAF6,downstream_gene_variant,,ENST00000487115,;TAF6,downstream_gene_variant,,ENST00000487288,;AP4M1,downstream_gene_variant,,ENST00000489387,;AP4M1,downstream_gene_variant,,ENST00000479916,;	2156	34	46	SUCCESS
FAM91A1	157769	.	GRCh37	8	124787447	124787447	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	18	99	0	ENST00000334705.7:c.218A>G	p.Asp73Gly	p.D73G	ENST00000334705	NM_144963.2	73	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS6346.2	218	MUTECT|MUSE|VARSCANS	.	CCGAGATCATC	NONE	.	.	Pfam_domain:PF14647	.	.	ENSP00000335082	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000334705	Transcript	.	.	ENSG00000176853	26306	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.053)	.	tolerated(0.11)	.	F91A1_HUMAN	FAM91A1	HGNC	H0YC80_HUMAN	.	UPI0000E5AF4E	SNV	FAM91A1,missense_variant,p.Asp73Gly,ENST00000334705,;FAM91A1,missense_variant,p.Asp73Gly,ENST00000521166,;FAM91A1,missense_variant,p.Asp73Gly,ENST00000519721,;FAM91A1,upstream_gene_variant,,ENST00000521704,;	464	99	188	SUCCESS
SQLE	6713	.	GRCh37	8	126011477	126011477	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	10	0	ENST00000265896.5:c.-169A>G		p.*57*	ENST00000265896	NM_003129.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47918.1	.	MUTECT|MUSE	.	TTTATATGATT	NONE	.	.	.	.	.	ENSP00000265896	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000265896	Transcript	.	.	ENSG00000104549	11279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERG1_HUMAN	SQLE	HGNC	Q9UNR6_HUMAN,H0YBN7_HUMAN,B4DHX0_HUMAN	.	UPI0000073EEE	SNV	SQLE,5_prime_UTR_variant,,ENST00000265896,;SQLE,intron_variant,,ENST00000521232,;SQLE,intron_variant,,ENST00000523430,;RP11-6D1.3,upstream_gene_variant,,ENST00000523030,;	730	10	18	SUCCESS
MYOM2	9172	.	GRCh37	8	2054372	2054372	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	49	136	0	ENST00000262113.4:c.2983G>T	p.Val995Phe	p.V995F	ENST00000262113	NM_003970.2	995	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS5957.1	2983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGTTCTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900,SMART_domains:SM00409	.	.	ENSP00000262113	.	23/37	.	.	.	.	.	.	.	.	.	23/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.361)	.	deleterious(0.01)	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,missense_variant,p.Val420Phe,ENST00000523438,;MYOM2,missense_variant,p.Val995Phe,ENST00000262113,;MYOM2,downstream_gene_variant,,ENST00000517520,;MYOM2,downstream_gene_variant,,ENST00000518203,;MYOM2,downstream_gene_variant,,ENST00000519372,;MYOM2,upstream_gene_variant,,ENST00000523443,;	3124	136	74	SUCCESS
FNTA	2339	.	GRCh37	8	42938314	42938314	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	153	452	0	ENST00000302279.3:c.836A>C	p.Tyr279Ser	p.Y279S	ENST00000302279	NM_002027.2	279	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS6140.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTATTTGA	NONE	.	.	PROSITE_profiles:PS51147,hmmpanther:PTHR11129:SF1,hmmpanther:PTHR11129,Gene3D:1.25.40.120,Pfam_domain:PF01239,Superfamily_domains:SSF48439	.	.	ENSP00000303423	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000302279	Transcript	.	.	ENSG00000168522	3782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FNTA_HUMAN	FNTA	HGNC	E9PPM9_HUMAN,D3DSY9_HUMAN,B3KVN2_HUMAN	.	UPI000013176D	SNV	FNTA,missense_variant,p.Tyr217Ser,ENST00000533336,;FNTA,missense_variant,p.Tyr279Ser,ENST00000302279,;FNTA,missense_variant,p.Tyr212Ser,ENST00000342116,;FNTA,missense_variant,p.Tyr128Ser,ENST00000529687,;FNTA,3_prime_UTR_variant,,ENST00000526755,;FNTA,3_prime_UTR_variant,,ENST00000533383,;FNTA,3_prime_UTR_variant,,ENST00000533998,;FNTA,non_coding_transcript_exon_variant,,ENST00000525099,;FNTA,upstream_gene_variant,,ENST00000528400,;	1030	452	277	SUCCESS
PALM2AKAP2		.	GRCh37	9	112900409	112900411	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	CTC	CTC	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	49	0	ENST00000259318.7:c.1894_1896del	p.Pro632del	p.P632del	ENST00000259318	NM_001136562.2	631	tCTCct/tct	0	.	.	.	.	.	-	SP/S	protein_coding	YES	CCDS35100.1	2585-2587	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCTTCTCCTGTT	NONE	.	.	hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10	.	.	ENSP00000363654	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000374530	Transcript	.	.	ENSG00000157654	33529	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PALM2-AKAP2	HGNC	.	.	UPI0000125755	deletion	PALM2-AKAP2,inframe_deletion,p.Pro863del,ENST00000374530,;AKAP2,inframe_deletion,p.Pro721del,ENST00000374525,;AKAP2,inframe_deletion,p.Pro632del,ENST00000259318,;AKAP2,inframe_deletion,p.Pro721del,ENST00000434623,;PALM2-AKAP2,inframe_deletion,p.Pro863del,ENST00000302798,;AKAP2,inframe_deletion,p.Pro863del,ENST00000510514,;AKAP2,inframe_deletion,p.Pro863del,ENST00000555236,;AKAP2,inframe_deletion,p.Pro681del,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;	2765-2767	49	58	SUCCESS
CNTRL	11064	.	GRCh37	9	123930429	123930429	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	69	0	ENST00000238341.5:c.5900G>C	p.Ser1967Thr	p.S1967T	ENST00000238341	NM_007018.4	1967	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS35118.1	5900	MUTECT|MUSE	.	AACCAGTAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	.	.	ENSP00000362962	.	38/44	.	.	.	.	.	.	.	.	.	38/44	PASS	ENST00000373855	Transcript	.	.	ENSG00000119397	1858	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.066)	.	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,missense_variant,p.Ser1967Thr,ENST00000373855,;CNTRL,missense_variant,p.Ser1415Thr,ENST00000373850,;CNTRL,missense_variant,p.Ser1967Thr,ENST00000238341,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373845,;	6160	69	91	SUCCESS
AIF1L	83543	.	GRCh37	9	133971940	133971940	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	15	0	ENST00000247291.3:c.-77G>T		p.*26*	ENST00000247291	NM_031426.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55348.1	.	MUTECT|MUSE	.	GCCCGGACCAG	NONE	.	.	.	.	.	ENSP00000361383	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000372309	Transcript	.	.	ENSG00000126878	28904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AIF1L_HUMAN	AIF1L	HGNC	A6PVM9_HUMAN	.	UPI00001C1012	SNV	AIF1L,5_prime_UTR_variant,,ENST00000372309,;AIF1L,5_prime_UTR_variant,,ENST00000372302,;AIF1L,5_prime_UTR_variant,,ENST00000247291,;AIF1L,5_prime_UTR_variant,,ENST00000372300,;LAMC3,downstream_gene_variant,,ENST00000355452,;AIF1L,upstream_gene_variant,,ENST00000372298,;LAMC3,downstream_gene_variant,,ENST00000361069,;AIF1L,upstream_gene_variant,,ENST00000372297,;LAMC3,downstream_gene_variant,,ENST00000462567,;AIF1L,upstream_gene_variant,,ENST00000472942,;LAMC3,downstream_gene_variant,,ENST00000480883,;AIF1L,5_prime_UTR_variant,,ENST00000372314,;AIF1L,upstream_gene_variant,,ENST00000478257,;	78	15	21	SUCCESS
COL5A1	1289	.	GRCh37	9	137707833	137707833	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs151115748	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	69	165	0	ENST00000371817.3:c.4121C>T	p.Thr1374Met	p.T1374M	ENST00000371817	NM_001278074.1	1374	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS6982.1	4121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACGGTGA	BUFFER|p.T1374T|c.4122G>A|3	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	T:0.0003	ENSP00000360882	.	52/66	.	.	.	.	.	.	.	.	rs151115748	52/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Thr1374Met,ENST00000371817,;	4535	165	196	SUCCESS
BNC2	54796	.	GRCh37	9	16738420	16738420	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	66	130	0	ENST00000380672.4:c.67G>T	p.Glu23Ter	p.E23*	ENST00000380672	NM_017637.5	23	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6482.2	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCACTAA	NONE	.	.	.	.	.	ENSP00000370047	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000380672	Transcript	.	.	ENSG00000173068	30988	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,stop_gained,p.Glu23Ter,ENST00000380667,;BNC2,stop_gained,p.Glu23Ter,ENST00000380672,;BNC2,stop_gained,p.Glu23Ter,ENST00000380666,;BNC2,intron_variant,,ENST00000545497,;BNC2,intron_variant,,ENST00000486514,;BNC2,stop_gained,p.Glu23Ter,ENST00000484726,;	125	130	150	SUCCESS
SMARCA2	6595	.	GRCh37	9	2070419	2070419	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	48	132	0	ENST00000349721.2:c.1694A>C	p.Lys565Thr	p.K565T	ENST00000349721	NM_003070.3	565	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS34977.1	1694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAGGCTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF541,hmmpanther:PTHR10799	.	.	ENSP00000371638	.	10/34	.	.	.	.	.	.	.	.	.	10/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,missense_variant,p.Lys565Thr,ENST00000382194,;SMARCA2,missense_variant,p.Lys565Thr,ENST00000382203,;SMARCA2,missense_variant,p.Lys565Thr,ENST00000357248,;SMARCA2,missense_variant,p.Lys565Thr,ENST00000349721,;	1903	132	119	SUCCESS
COX15	1355	.	GRCh37	10	101476153	101476153	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	82	0	ENST00000016171.5:c.1053A>G	p.Arg351=	p.R351=	ENST00000016171		351	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS7482.1	1053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTTCTAGG	NONE	.	.	HAMAP:MF_01665,hmmpanther:PTHR23289,Pfam_domain:PF02628	.	.	ENSP00000016171	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000016171	Transcript	1	.	ENSG00000014919	2263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COX15_HUMAN	COX15	HGNC	B4DQM2_HUMAN	.	UPI000006E691	SNV	COX15,synonymous_variant,p.%3D,ENST00000370483,;COX15,synonymous_variant,p.%3D,ENST00000016171,;COX15,non_coding_transcript_exon_variant,,ENST00000497381,;CUTC,intron_variant,,ENST00000493385,;	1104	82	81	SUCCESS
LDB1	8861	.	GRCh37	10	103867930	103867930	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141161148	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	95	0	ENST00000425280.1:c.1156G>A	p.Ala386Thr	p.A386T	ENST00000425280	NM_001113407.1	386	Gcc/Acc	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS44472.1	1156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCGCCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10378:SF7,hmmpanther:PTHR10378	.	T:0.0007	ENSP00000392466	.	11/11	.	.	.	.	.	.	.	.	rs141161148	11/11	PASS	ENST00000425280	Transcript	.	.	ENSG00000198728	6532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	LDB1_HUMAN	LDB1	HGNC	.	.	UPI00001F95EA	SNV	LDB1,missense_variant,p.Ala386Thr,ENST00000425280,;LDB1,missense_variant,p.Ala350Thr,ENST00000361198,;LDB1,downstream_gene_variant,,ENST00000461873,;LDB1,downstream_gene_variant,,ENST00000490751,;	1499	95	98	SUCCESS
ADRA2A	150	.	GRCh37	10	112838915	112838915	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	44	0	ENST00000280155.2:c.1161C>T	p.Phe387=	p.F387=	ENST00000280155	NM_000681.3	387	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS7569.2	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTTCACGTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF24,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000280155	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000280155	Transcript	.	.	ENSG00000150594	281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA2A_HUMAN	ADRA2A	HGNC	.	.	UPI000018CE86	SNV	ADRA2A,synonymous_variant,p.%3D,ENST00000280155,;	2126	44	36	SUCCESS
GAD2	2572	.	GRCh37	10	26589783	26589783	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145658372	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	58	140	1	ENST00000259271.3:c.1651G>A	p.Gly551Arg	p.G551R	ENST00000259271	NM_000818.2	551	Gga/Aga	0	A:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS7149.1	1651	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGGAGAC	NONE	byCluster	.	hmmpanther:PTHR11999:SF77,hmmpanther:PTHR11999,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383	.	A:0.0001	ENSP00000365437	.	16/16	.	.	.	.	.	.	.	.	rs145658372	16/16	PASS	ENST00000376261	Transcript	.	.	ENSG00000136750	4093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.18)	.	DCE2_HUMAN	GAD2	HGNC	Q9UGI5_HUMAN,Q5VZ30_HUMAN	.	UPI0000033835	SNV	GAD2,missense_variant,p.Gly551Arg,ENST00000259271,;GAD2,missense_variant,p.Gly551Arg,ENST00000376261,;	2154	142	134	SUCCESS
SVIL	6840	.	GRCh37	10	29812899	29812899	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768579770	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	6	107	0	ENST00000355867.4:c.2644G>A	p.Val882Ile	p.V882I	ENST00000355867	NM_021738.2	882	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS7164.1	2644	MUTECT|MUSE	.	TGCTACGGTAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28	.	.	ENSP00000364547	.	17/40	.	.	.	.	.	.	.	.	rs768579770	17/40	PASS	ENST00000375398	Transcript	.	.	ENSG00000197321	11480	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.18)	.	SVIL_HUMAN	SVIL	HGNC	Q569J5_HUMAN	.	UPI0000366678	SNV	SVIL,missense_variant,p.Val882Ile,ENST00000355867,;SVIL,missense_variant,p.Val456Ile,ENST00000375400,;SVIL,missense_variant,p.Val882Ile,ENST00000375398,;SVIL,upstream_gene_variant,,ENST00000535393,;SVIL,upstream_gene_variant,,ENST00000464984,;	3094	107	133	SUCCESS
EGR2	1959	.	GRCh37	10	64575807	64575807	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	49	0	ENST00000242480.3:c.-18A>C		p.*6*	ENST00000242480	NM_001136177.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7267.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCTGGAGA	NONE	.	.	.	.	.	ENSP00000242480	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000242480	Transcript	1	.	ENSG00000122877	3239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGR2_HUMAN	EGR2	HGNC	.	.	UPI000013CB07	SNV	EGR2,5_prime_UTR_variant,,ENST00000439032,;EGR2,5_prime_UTR_variant,,ENST00000242480,;EGR2,intron_variant,,ENST00000411732,;EGR2,intron_variant,,ENST00000493899,;	309	49	56	SUCCESS
WAPAL	0	.	GRCh37	10	88231999	88232010	+	stop_gained,inframe_deletion	Nonsense_Mutation	DEL	TTAAGCCACTTA	TTAAGCCACTTA	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	TTAAGCCACTTA	TTAAGCCACTTA	.	.	.	.	.	.	.	.	.	.	.	.	.	242	110	357	0	ENST00000298767.5:c.1985_1996del	p.Leu662_Lys666delinsTer	p.L662_K666delins*	ENST00000298767	NM_015045.2	662	tTAAGTGGCTTAAag/tag	0	.	.	.	.	.	-	LSGLK/*	protein_coding	YES	CCDS7375.1	1985-1996	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTCTTTAAGCCACTTAACAAG	NONE	.	.	PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100,Pfam_domain:PF07814,Superfamily_domains:SSF48371	.	.	ENSP00000298767	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000298767	Transcript	.	.	ENSG00000062650	23293	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WAPL_HUMAN	WAPAL	HGNC	B3Y1W2_HUMAN,B2RTX8_HUMAN	.	UPI00001AE41A	deletion	WAPAL,stop_gained,p.Leu662_Lys666delinsTer,ENST00000298767,;WAPAL,upstream_gene_variant,,ENST00000372075,;WAPAL,upstream_gene_variant,,ENST00000263070,;WAPAL,non_coding_transcript_exon_variant,,ENST00000489996,;	2458-2469	357	352	SUCCESS
EXOC6	54536	.	GRCh37	10	94669328	94669328	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	85	221	0	ENST00000260762.6:c.603A>C	p.Lys201Asn	p.K201N	ENST00000260762	NM_019053.4	201	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS7424.2	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAAGACTT	NONE	.	.	hmmpanther:PTHR12702:SF2,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007	.	.	ENSP00000260762	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000260762	Transcript	.	.	ENSG00000138190	23196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.05)	.	EXOC6_HUMAN	EXOC6	HGNC	Q9NTA6_HUMAN,H0Y5J8_HUMAN,B1AP46_HUMAN	.	UPI0000141914	SNV	EXOC6,missense_variant,p.Lys201Asn,ENST00000260762,;EXOC6,missense_variant,p.Lys217Asn,ENST00000371547,;EXOC6,missense_variant,p.Lys201Asn,ENST00000443748,;EXOC6,missense_variant,p.Lys196Asn,ENST00000371552,;EXOC6,non_coding_transcript_exon_variant,,ENST00000497262,;	617	221	223	SUCCESS
CYP2C9	1559	.	GRCh37	10	96745877	96745877	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	110	0	ENST00000260682.6:c.1237C>A	p.Leu413Met	p.L413M	ENST00000260682	NM_000771.3	413	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS7437.1	1237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCTGGAT	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF131,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000260682	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000260682	Transcript	1	.	ENSG00000138109	2623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CP2C9_HUMAN	CYP2C9	HGNC	S5RV20_HUMAN,Q9UEH3_HUMAN	.	UPI0000128258	SNV	CYP2C9,missense_variant,p.Leu413Met,ENST00000260682,;	1249	110	126	SUCCESS
PIH1D2	120379	.	GRCh37	11	111941345	111941345	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782484279	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	61	138	1	ENST00000280350.4:c.628G>A	p.Val210Ile	p.V210I	ENST00000280350	NM_138789.3	210	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS8355.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAACTTGGT	NONE	.	.	hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF2,Pfam_domain:PF08190	.	.	ENSP00000280350	.	5/6	.	.	.	.	.	.	.	.	rs782484279	5/6	PASS	ENST00000280350	Transcript	.	.	ENSG00000150773	25210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.23)	.	PIHD2_HUMAN	PIH1D2	HGNC	.	.	UPI000007007A	SNV	PIH1D2,missense_variant,p.Val210Ile,ENST00000431456,;PIH1D2,missense_variant,p.Val210Ile,ENST00000530641,;PIH1D2,missense_variant,p.Val210Ile,ENST00000528775,;PIH1D2,missense_variant,p.Val210Ile,ENST00000280350,;PIH1D2,missense_variant,p.Val210Ile,ENST00000532211,;PIH1D2,missense_variant,p.Val166Ile,ENST00000525072,;C11orf57,upstream_gene_variant,,ENST00000531378,;C11orf57,upstream_gene_variant,,ENST00000526879,;C11orf57,upstream_gene_variant,,ENST00000530104,;C11orf57,upstream_gene_variant,,ENST00000525785,;C11orf57,upstream_gene_variant,,ENST00000420986,;C11orf57,upstream_gene_variant,,ENST00000393047,;C11orf57,upstream_gene_variant,,ENST00000280352,;C11orf57,upstream_gene_variant,,ENST00000532163,;PIH1D2,downstream_gene_variant,,ENST00000521853,;PIH1D2,downstream_gene_variant,,ENST00000525744,;C11orf57,upstream_gene_variant,,ENST00000524989,;	851	140	86	SUCCESS
RBM7	10179	.	GRCh37	11	114271428	114271428	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	141	0	ENST00000540163.1:c.35T>C	p.Leu12Pro	p.L12P	ENST00000540163	NM_001286048.1	12	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS8370.1	35	RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTCTTTG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13798:SF4,hmmpanther:PTHR13798,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000439918	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000540163	Transcript	.	.	ENSG00000076053	9904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	RBM7_HUMAN	RBM7	HGNC	G3V1T9_HUMAN	.	UPI000013337E	SNV	RBM7,missense_variant,p.Leu12Pro,ENST00000544582,;RBM7,missense_variant,p.Leu12Pro,ENST00000375490,;RBM7,missense_variant,p.Leu12Pro,ENST00000541475,;RBM7,missense_variant,p.Leu12Pro,ENST00000540163,;RBM7,5_prime_UTR_variant,,ENST00000545678,;C11orf71,upstream_gene_variant,,ENST00000325636,;RBM7,missense_variant,p.Leu12Pro,ENST00000542140,;RP11-212D19.4,missense_variant,p.Leu9Pro,ENST00000544347,;RBM7,missense_variant,p.Leu12Pro,ENST00000544313,;RBM7,non_coding_transcript_exon_variant,,ENST00000538134,;	677	141	65	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33565296	33565296	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	85	0	ENST00000321505.4:c.1296T>A	p.Ile432=	p.I432=	ENST00000321505		432	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS44565.2	1296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATTAGCAC	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,synonymous_variant,p.%3D,ENST00000321505,;KIAA1549L,synonymous_variant,p.%3D,ENST00000389726,;KIAA1549L,synonymous_variant,p.%3D,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	1476	85	79	SUCCESS
AMBRA1	55626	.	GRCh37	11	46567302	46567302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	98	0	ENST00000458649.2:c.403G>T	p.Asp135Tyr	p.D135Y	ENST00000458649		135	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31475.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATCTGTGA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874	.	.	ENSP00000318313	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000314845	Transcript	.	.	ENSG00000110497	25990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0.01)	.	AMRA1_HUMAN	AMBRA1	HGNC	E9PL55_HUMAN	.	UPI0000237851	SNV	AMBRA1,missense_variant,p.Asp135Tyr,ENST00000534300,;AMBRA1,missense_variant,p.Asp135Tyr,ENST00000533727,;AMBRA1,missense_variant,p.Asp135Tyr,ENST00000426438,;AMBRA1,missense_variant,p.Asp135Tyr,ENST00000298834,;AMBRA1,missense_variant,p.Asp135Tyr,ENST00000314845,;AMBRA1,missense_variant,p.Asp135Tyr,ENST00000528950,;AMBRA1,missense_variant,p.Asp135Tyr,ENST00000458649,;AMBRA1,downstream_gene_variant,,ENST00000526606,;AMBRA1,non_coding_transcript_exon_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;	763	98	125	SUCCESS
OR5L1	219437	.	GRCh37	11	55579061	55579061	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs772544351	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	94	0	ENST00000333973.2:c.119T>A	p.Leu40Ter	p.L40*	ENST00000333973	NM_001004738.1	40	tTa/tAa	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS31509.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTTAGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	rs772544351	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,stop_gained,p.Leu40Ter,ENST00000333973,;	208	94	86	SUCCESS
VEGFB	7423	.	GRCh37	11	64005084	64005084	+	synonymous_variant	Silent	SNP	C	C	G	rs754086315	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	36	0	ENST00000309422.2:c.603C>G	p.Ser201=	p.S201=	ENST00000309422	NM_003377.4	201	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS8062.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCGTTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12025:SF4,hmmpanther:PTHR12025	.	.	ENSP00000311127	.	6/7	.	.	.	.	.	.	.	.	rs754086315	6/7	PASS	ENST00000309422	Transcript	.	.	ENSG00000173511	12681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VEGFB_HUMAN	VEGFB	HGNC	Q7LAP4_HUMAN	.	UPI0000001047	SNV	VEGFB,missense_variant,p.Arg168Gly,ENST00000426086,;VEGFB,synonymous_variant,p.%3D,ENST00000309422,;VEGFB,synonymous_variant,p.%3D,ENST00000541681,;DNAJC4,downstream_gene_variant,,ENST00000355040,;FKBP2,upstream_gene_variant,,ENST00000449942,;FKBP2,upstream_gene_variant,,ENST00000309366,;DNAJC4,downstream_gene_variant,,ENST00000321685,;DNAJC4,downstream_gene_variant,,ENST00000535246,;FKBP2,upstream_gene_variant,,ENST00000394540,;FKBP2,upstream_gene_variant,,ENST00000535135,;DNAJC4,downstream_gene_variant,,ENST00000321460,;RP11-783K16.14,upstream_gene_variant,,ENST00000534988,;RP11-783K16.14,upstream_gene_variant,,ENST00000539963,;VEGFB,non_coding_transcript_exon_variant,,ENST00000543462,;DNAJC4,downstream_gene_variant,,ENST00000538961,;DNAJC4,downstream_gene_variant,,ENST00000537109,;DNAJC4,downstream_gene_variant,,ENST00000543791,;DNAJC4,downstream_gene_variant,,ENST00000540945,;FKBP2,upstream_gene_variant,,ENST00000541388,;FKBP2,upstream_gene_variant,,ENST00000536642,;DNAJC4,downstream_gene_variant,,ENST00000542376,;DNAJC4,downstream_gene_variant,,ENST00000536006,;	899	36	57	SUCCESS
RPS6KB2	6199	.	GRCh37	11	67200122	67200122	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs780978333	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	41	82	0	ENST00000312629.5:c.509C>A	p.Thr170Lys	p.T170K	ENST00000312629	NM_003952.2	170	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS41677.1	509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATACGGCCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF39,hmmpanther:PTHR24351,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000308413	.	6/15	.	.	.	.	.	.	.	.	rs780978333	6/15	PASS	ENST00000312629	Transcript	.	.	ENSG00000175634	10437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0.03)	.	KS6B2_HUMAN	RPS6KB2	HGNC	.	.	UPI00001FAD74	SNV	RPS6KB2,missense_variant,p.Thr170Lys,ENST00000312629,;RPS6KB2,3_prime_UTR_variant,,ENST00000539188,;RPS6KB2,downstream_gene_variant,,ENST00000524934,;PTPRCAP,downstream_gene_variant,,ENST00000326294,;AP003419.16,intron_variant,,ENST00000535922,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000524814,;RPS6KB2,missense_variant,p.Thr90Lys,ENST00000525996,;RPS6KB2,3_prime_UTR_variant,,ENST00000556575,;RPS6KB2,3_prime_UTR_variant,,ENST00000528964,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000525088,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000525726,;RPS6KB2,intron_variant,,ENST00000420069,;RPS6KB2,upstream_gene_variant,,ENST00000526268,;RPS6KB2,downstream_gene_variant,,ENST00000530623,;RPS6KB2,upstream_gene_variant,,ENST00000531765,;	554	82	123	SUCCESS
CABP2	51475	.	GRCh37	11	67290843	67290843	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	171	204	0	ENST00000294288.4:c.-46A>T		p.*16*	ENST00000294288	NM_016366.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8170.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGTGGGCC	NONE	.	.	.	.	.	ENSP00000294288	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000294288	Transcript	.	.	ENSG00000167791	1385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABP2_HUMAN	CABP2	HGNC	.	.	UPI000013E147	SNV	CABP2,5_prime_UTR_variant,,ENST00000353903,;CABP2,5_prime_UTR_variant,,ENST00000294288,;CABP2,5_prime_UTR_variant,,ENST00000545205,;	25	204	296	SUCCESS
TPCN2	219931	.	GRCh37	11	68816447	68816447	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs202224194	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	56	0	ENST00000294309.3:c.-19C>T		p.*7*	ENST00000294309	NM_139075.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS8189.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGTCCAGCG	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000294309	T:0.001	1/25	.	.	.	.	.	.	.	.	rs202224194	1/25	PASS	ENST00000294309	Transcript	.	T:0.0002	ENSG00000162341	20820	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TPC2_HUMAN	TPCN2	HGNC	.	.	UPI000013E149	SNV	TPCN2,5_prime_UTR_variant,,ENST00000542467,;TPCN2,5_prime_UTR_variant,,ENST00000294309,;TPCN2,upstream_gene_variant,,ENST00000534832,;TPCN2,non_coding_transcript_exon_variant,,ENST00000535009,;	83	56	92	SUCCESS
MYO7A	4647	.	GRCh37	11	76890167	76890167	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	47	71	0	ENST00000409709.3:c.2359T>C	p.Tyr787His	p.Y787H	ENST00000409709	NM_000260.3	787	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS53683.1	2359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTACGGG	NONE	.	.	PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,Pfam_domain:PF00612,SMART_domains:SM00015,Superfamily_domains:SSF52540	.	.	ENSP00000386331	.	20/49	.	.	.	.	.	.	.	.	.	20/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Tyr787His,ENST00000409893,;MYO7A,missense_variant,p.Tyr776His,ENST00000409619,;MYO7A,missense_variant,p.Tyr787His,ENST00000409709,;MYO7A,missense_variant,p.Tyr787His,ENST00000458637,;MYO7A,upstream_gene_variant,,ENST00000458169,;MYO7A,upstream_gene_variant,,ENST00000481328,;	2631	71	87	SUCCESS
INTS4	92105	.	GRCh37	11	77669833	77669833	+	synonymous_variant	Silent	SNP	T	T	A	rs751447139	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	376	402	0	ENST00000534064.1:c.756A>T	p.Ala252=	p.A252=	ENST00000534064	NM_033547.3	252	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31644.1	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACTGCAGC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF13646,hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0	.	.	ENSP00000434466	.	7/23	.	.	.	.	.	.	.	.	rs751447139	7/23	PASS	ENST00000534064	Transcript	.	.	ENSG00000149262	25048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT4_HUMAN	INTS4	HGNC	.	.	UPI00001FB00A	SNV	INTS4,synonymous_variant,p.%3D,ENST00000529807,;INTS4,synonymous_variant,p.%3D,ENST00000534064,;INTS4,3_prime_UTR_variant,,ENST00000433818,;	791	402	652	SUCCESS
FAM181B	220382	.	GRCh37	11	82443621	82443621	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759064706	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	12	133	0	ENST00000329203.3:c.1151C>T	p.Pro384Leu	p.P384L	ENST00000329203	NM_175885.3	384	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31648.1	1151	MUTECT|MUSE	.	GCGGCGGGGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000365295	.	1/1	.	.	.	.	.	.	.	.	rs759064706	1/1	PASS	ENST00000329203	Transcript	.	.	ENSG00000182103	28512	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.491)	.	tolerated_low_confidence(0.07)	.	F181B_HUMAN	FAM181B	HGNC	.	.	UPI000015FCC7	SNV	FAM181B,missense_variant,p.Pro384Leu,ENST00000329203,;	1286	133	178	SUCCESS
PCF11	51585	.	GRCh37	11	82877710	82877710	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	299	136	355	0	ENST00000298281.4:c.1771T>C	p.Ser591Pro	p.S591P	ENST00000298281	NM_015885.3	591	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS44689.1	1771	SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTCCAAG	SITE|p.S591P|c.1771T>C|3,BUFFER|p.S689R|c.2065A>C|3,BUFFER|p.S690P|c.2068T>C|3	.	.	hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921	.	.	ENSP00000298281	.	5/16	.	.	.	.	.	.	.	.	COSM3700155,COSM3700154	5/16	PASS	ENST00000298281	Transcript	.	.	ENSG00000165494	30097	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.07)	.	tolerated(0.38)	1,1	PCF11_HUMAN	PCF11	HGNC	E9PKN0_HUMAN	.	UPI00001BB2B7	SNV	PCF11,missense_variant,p.Ser591Pro,ENST00000298281,;PCF11,missense_variant,p.Ser591Pro,ENST00000530660,;PCF11,missense_variant,p.Ser591Pro,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;PCF11,downstream_gene_variant,,ENST00000533018,;	2223	355	436	SUCCESS
PCF11	51585	.	GRCh37	11	82877748	82877749	+	inframe_insertion	In_Frame_Ins	INS	-	-	AAT	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	312	84	340	0	ENST00000298281.4:c.1812_1814dup	p.Asn604dup	p.N604dup	ENST00000298281	NM_015885.3	604	-/AAT	0	.	.	.	.	.	AAT	-/N	protein_coding	YES	CCDS44689.1	1809-1810	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGAAAATAA	NONE	.	.	hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921	.	.	ENSP00000298281	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000298281	Transcript	.	.	ENSG00000165494	30097	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCF11_HUMAN	PCF11	HGNC	E9PKN0_HUMAN	.	UPI00001BB2B7	insertion	PCF11,inframe_insertion,p.Asn604dup,ENST00000298281,;PCF11,inframe_insertion,p.Asn604dup,ENST00000530660,;PCF11,inframe_insertion,p.Asn604dup,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;PCF11,downstream_gene_variant,,ENST00000533018,;	2261-2262	340	396	SUCCESS
PAH	5053	.	GRCh37	12	103310862	103310862	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	78	0	ENST00000553106.1:c.47C>T	p.Ser16Phe	p.S16F	ENST00000553106	NM_000277.1	16	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS9092.1	47	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAGAGAGT	NONE	.	.	PIRSF_domain:PIRSF000336,hmmpanther:PTHR11473	.	.	ENSP00000448059	.	1/13	.	.	.	.	.	.	.	.	CM112733	1/13	PASS	ENST00000553106	Transcript	.	.	ENSG00000171759	8582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	deleterious(0.04)	.	PH4H_HUMAN	PAH	HGNC	F8W1D4_HUMAN,F8W0A0_HUMAN	.	UPI00001318A0	SNV	PAH,missense_variant,p.Ser16Phe,ENST00000551337,;PAH,missense_variant,p.Ser16Phe,ENST00000553106,;PAH,missense_variant,p.Ser16Phe,ENST00000546844,;PAH,5_prime_UTR_variant,,ENST00000307000,;PAH,non_coding_transcript_exon_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000547319,;PAH,downstream_gene_variant,,ENST00000546708,;PAH,upstream_gene_variant,,ENST00000548677,;PAH,upstream_gene_variant,,ENST00000548928,;PAH,non_coding_transcript_exon_variant,,ENST00000549111,;PAH,non_coding_transcript_exon_variant,,ENST00000550978,;	520	78	79	SUCCESS
TRAFD1	10906	.	GRCh37	12	112583390	112583390	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	52	0	ENST00000257604.5:c.851G>A	p.Gly284Asp	p.G284D	ENST00000257604	NM_001143906.1	284	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS9160.1	851	MUTECT|MUSE	.	CCTAGGTGCAG	NONE	.	.	hmmpanther:PTHR16295:SF14,hmmpanther:PTHR16295	.	.	ENSP00000257604	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000257604	Transcript	.	.	ENSG00000135148	24808	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.941)	.	tolerated(0.09)	.	TRAD1_HUMAN	TRAFD1	HGNC	S4R2Z9_HUMAN,F8VVF3_HUMAN,F8VNX8_HUMAN	.	UPI0000073DDD	SNV	TRAFD1,missense_variant,p.Gly284Asp,ENST00000257604,;TRAFD1,missense_variant,p.Gly284Asp,ENST00000412615,;TRAFD1,downstream_gene_variant,,ENST00000549358,;TRAFD1,downstream_gene_variant,,ENST00000552896,;TRAFD1,downstream_gene_variant,,ENST00000548092,;Y_RNA,upstream_gene_variant,,ENST00000363265,;TRAFD1,splice_region_variant,,ENST00000548277,;TRAFD1,splice_region_variant,,ENST00000552890,;TRAFD1,downstream_gene_variant,,ENST00000550051,;TRAFD1,downstream_gene_variant,,ENST00000547063,;	1468	52	67	SUCCESS
RASAL1	8437	.	GRCh37	12	113573220	113573220	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	14	129	0	ENST00000261729.5:c.48G>A	p.Ala16=	p.A16=	ENST00000261729		16	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55889.1	48	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGCGCG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10194:SF3,hmmpanther:PTHR10194,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000450244	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000546530	Transcript	.	.	ENSG00000111344	9873	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RASL1_HUMAN	RASAL1	HGNC	.	.	UPI0001DD37FE	SNV	RASAL1,synonymous_variant,p.%3D,ENST00000261729,;RASAL1,synonymous_variant,p.%3D,ENST00000548055,;RASAL1,synonymous_variant,p.%3D,ENST00000446861,;RASAL1,synonymous_variant,p.%3D,ENST00000546530,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;	334	129	131	SUCCESS
ATP6V0A2	23545	.	GRCh37	12	124242532	124242532	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	59	0	ENST00000330342.3:c.2524T>G	p.Phe842Val	p.F842V	ENST00000330342	NM_012463.3	842	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS9254.1	2524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCATTCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF22,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000332247	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000330342	Transcript	.	.	ENSG00000185344	18481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.328)	.	deleterious(0)	.	VPP2_HUMAN	ATP6V0A2	HGNC	F5H847_HUMAN,F5H5F3_HUMAN,B4DQF7_HUMAN	.	UPI00001AFC09	SNV	ATP6V0A2,missense_variant,p.Phe842Val,ENST00000330342,;ATP6V0A2,missense_variant,p.Phe124Val,ENST00000544833,;ATP6V0A2,missense_variant,p.Phe122Val,ENST00000534943,;DNAH10,upstream_gene_variant,,ENST00000409039,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000543687,;	2772	59	63	SUCCESS
LRRK2	120892	.	GRCh37	12	40668428	40668428	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1185350430	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	79	0	ENST00000298910.7:c.1700T>C	p.Ile567Thr	p.I567T	ENST00000298910	NM_198578.3	567	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS31774.1	1700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAATTTCTT	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000298910	.	15/51	.	.	.	.	.	.	.	.	.	15/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	deleterious(0)	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,missense_variant,p.Ile567Thr,ENST00000343742,;LRRK2,missense_variant,p.Ile315Thr,ENST00000416796,;LRRK2,missense_variant,p.Ile567Thr,ENST00000298910,;	1758	79	74	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48152181	48152181	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	20	0	ENST00000389212.3:c.6+153A>G		p.*2*	ENST00000389212				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41775.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTAGGTC	NONE	.	.	.	.	.	ENSP00000395708	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODIFIER	1/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,5_prime_UTR_variant,,ENST00000466322,;RAPGEF3,5_prime_UTR_variant,,ENST00000405493,;RAPGEF3,intron_variant,,ENST00000449771,;RAPGEF3,intron_variant,,ENST00000395358,;RAPGEF3,intron_variant,,ENST00000548919,;RAPGEF3,intron_variant,,ENST00000389212,;SLC48A1,intron_variant,,ENST00000548498,;RAPGEF3,intron_variant,,ENST00000171000,;RAPGEF3,intron_variant,,ENST00000549151,;SLC48A1,upstream_gene_variant,,ENST00000547002,;SLC48A1,upstream_gene_variant,,ENST00000549243,;RAPGEF3,upstream_gene_variant,,ENST00000495953,;RAPGEF3,upstream_gene_variant,,ENST00000549347,;RAPGEF3,intron_variant,,ENST00000547856,;RAPGEF3,intron_variant,,ENST00000479866,;RAPGEF3,intron_variant,,ENST00000482843,;SLC48A1,downstream_gene_variant,,ENST00000552003,;	.	20	30	SUCCESS
KMT2D	8085	.	GRCh37	12	49431855	49431855	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	88	0	ENST00000301067.7:c.9284G>A	p.Gly3095Asp	p.G3095D	ENST00000301067	NM_003482.3	3095	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS44873.1	9284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	34/54	.	.	.	.	.	.	.	.	.	34/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.622)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gly3095Asp,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;	9284	88	74	SUCCESS
KRT85	3891	.	GRCh37	12	52757067	52757067	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs529513894	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	6	72	0	ENST00000257901.3:c.914G>T	p.Arg305Leu	p.R305L	ENST00000257901	NM_002283.3	305	cGc/cTc	0	.	T:0.0008	.	T:0	.	A	R/L	protein_coding	YES	CCDS8824.1	914	MUTECT|MUSE|VARSCANS	.	GGCTGCGGCTG	NONE	by1000G	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239	T:0	.	ENSP00000257901	T:0	5/9	.	.	.	.	.	.	.	.	rs529513894	5/9	PASS	ENST00000257901	Transcript	.	T:0.0002	ENSG00000135443	6462	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.536)	T:0	deleterious(0.01)	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,missense_variant,p.Arg93Leu,ENST00000544265,;KRT85,missense_variant,p.Arg305Leu,ENST00000257901,;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;	990	72	75	SUCCESS
KRT75	9119	.	GRCh37	12	52826861	52826861	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	44	128	0	ENST00000252245.5:c.674del	p.Leu225ArgfsTer30	p.L225Rfs*30	ENST00000252245	NM_004693.2	225	cTg/cg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS8827.1	674	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTCAGTTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF111,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000252245	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000252245	Transcript	.	.	ENSG00000170454	24431	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K2C75_HUMAN	KRT75	HGNC	.	.	UPI000013CD4E	deletion	KRT75,frameshift_variant,p.Leu225ArgfsTer30,ENST00000252245,;RP11-1020M18.10,downstream_gene_variant,,ENST00000548135,;	895	128	157	SUCCESS
TIMELESS	8914	.	GRCh37	12	56817448	56817448	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	49	0	ENST00000553532.1:c.2010G>A	p.Glu670=	p.E670=	ENST00000553532		670	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8918.1	2010	MUTECT|MUSE	.	TCCTCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	17/29	.	.	.	.	.	.	.	.	COSM468676	17/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,synonymous_variant,p.%3D,ENST00000553532,;TIMELESS,synonymous_variant,p.%3D,ENST00000229201,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,upstream_gene_variant,,ENST00000553314,;TIMELESS,upstream_gene_variant,,ENST00000555808,;	2161	49	60	SUCCESS
PRIM1	5557	.	GRCh37	12	57136845	57136845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	25	57	0	ENST00000338193.6:c.674A>T	p.Glu225Val	p.E225V	ENST00000338193	NM_000946.2	225	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS44926.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATTCTTCA	NONE	.	.	Superfamily_domains:SSF56747,Pfam_domain:PF01896,TIGRFAM_domain:TIGR00335,hmmpanther:PTHR10536	.	.	ENSP00000350491	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000338193	Transcript	.	.	ENSG00000198056	9369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	deleterious(0.03)	.	PRI1_HUMAN	PRIM1	HGNC	.	.	UPI00001321AF	SNV	PRIM1,missense_variant,p.Glu228Val,ENST00000550770,;PRIM1,missense_variant,p.Glu225Val,ENST00000338193,;PRIM1,missense_variant,p.Glu13Val,ENST00000549549,;PRIM1,downstream_gene_variant,,ENST00000552408,;PRIM1,downstream_gene_variant,,ENST00000546761,;PRIM1,3_prime_UTR_variant,,ENST00000552590,;PRIM1,downstream_gene_variant,,ENST00000550224,;PRIM1,downstream_gene_variant,,ENST00000548173,;	711	57	59	SUCCESS
CD163L1	283316	.	GRCh37	12	7551140	7551140	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	93	0	ENST00000313599.3:c.1449C>A	p.Ser483Arg	p.S483R	ENST00000313599		483	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS8577.1	1449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCTATG	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000315945	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000313599	Transcript	.	.	ENSG00000177675	30375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	deleterious(0.04)	.	C163B_HUMAN	CD163L1	HGNC	F5H7R7_HUMAN	.	UPI000013F5AD	SNV	CD163L1,missense_variant,p.Ser493Arg,ENST00000416109,;CD163L1,missense_variant,p.Ser483Arg,ENST00000313599,;CD163L1,missense_variant,p.Ser483Arg,ENST00000396630,;CD163L1,intron_variant,,ENST00000545926,;	1507	93	132	SUCCESS
CLEC6A	93978	.	GRCh37	12	8608687	8608687	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	80	0	ENST00000382073.3:c.-21T>C		p.*7*	ENST00000382073	NM_001007033.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31739.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTCAACA	NONE	.	.	.	.	.	ENSP00000371505	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000382073	Transcript	.	.	ENSG00000205846	14556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC6A_HUMAN	CLEC6A	HGNC	.	.	UPI00003BE8D6	SNV	CLEC6A,5_prime_UTR_variant,,ENST00000382073,;RP11-113C12.2,upstream_gene_variant,,ENST00000477936,;	166	81	71	SUCCESS
TM9SF2	9375	.	GRCh37	13	100206556	100206556	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	68	0	ENST00000376387.4:c.1489-2A>T		p.X497_splice	ENST00000376387	NM_004800.2	497		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9493.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAAGGCCA	NONE	.	.	.	.	.	ENSP00000365567	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376387	Transcript	.	.	ENSG00000125304	11865	.	.	HIGH	13/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM9S2_HUMAN	TM9SF2	HGNC	.	.	UPI000013684D	SNV	TM9SF2,splice_acceptor_variant,,ENST00000376387,;	.	68	71	SUCCESS
IRS2	8660	.	GRCh37	13	110434682	110434682	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	121	0	ENST00000375856.3:c.3719G>A	p.Arg1240His	p.R1240H	ENST00000375856	NM_003749.2	1240	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9510.1	3719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCGCATG	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	deleterious(0.05)	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,missense_variant,p.Arg1240His,ENST00000375856,;	4234	121	120	SUCCESS
MCF2L	23263	.	GRCh37	13	113750772	113750772	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1295418577	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	84	180	0	ENST00000375608.3:c.3253G>A	p.Val1085Met	p.V1085M	ENST00000375608		1085	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS45070.2	3163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGTGCAG	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000440374	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000535094	Transcript	.	.	ENSG00000126217	14576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious(0.05)	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,missense_variant,p.Val1053Met,ENST00000423482,;MCF2L,missense_variant,p.Val226Met,ENST00000261963,;MCF2L,missense_variant,p.Val741Met,ENST00000397017,;MCF2L,missense_variant,p.Val1085Met,ENST00000375608,;MCF2L,missense_variant,p.Val1055Met,ENST00000535094,;MCF2L,missense_variant,p.Val1061Met,ENST00000434480,;MCF2L,missense_variant,p.Val127Met,ENST00000420013,;MCF2L,missense_variant,p.Val1085Met,ENST00000442652,;MCF2L,missense_variant,p.Val1088Met,ENST00000397030,;MCF2L,missense_variant,p.Val1059Met,ENST00000375601,;MCF2L,missense_variant,p.Val1059Met,ENST00000421756,;MCF2L,missense_variant,p.Val1112Met,ENST00000375604,;MCF2L,missense_variant,p.Val266Met,ENST00000453297,;AL137002.1,downstream_gene_variant,,ENST00000593656,;MCF2L,downstream_gene_variant,,ENST00000413354,;MCF2L,downstream_gene_variant,,ENST00000439475,;MCF2L,downstream_gene_variant,,ENST00000441756,;MCF2L,non_coding_transcript_exon_variant,,ENST00000469415,;MCF2L,non_coding_transcript_exon_variant,,ENST00000488765,;MCF2L,downstream_gene_variant,,ENST00000491028,;	3322	180	175	SUCCESS
ATP12A	479	.	GRCh37	13	25265114	25265114	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	87	0	ENST00000381946.3:c.800-6C>T		p.X267_splice	ENST00000381946		267		0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS53858.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCTGTAG	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,Superfamily_domains:0049471	.	.	ENSP00000218548	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000218548	Transcript	.	.	ENSG00000075673	13816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.67)	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,missense_variant,p.Pro271Leu,ENST00000218548,;ATP12A,splice_region_variant,,ENST00000381946,;	1145	87	69	SUCCESS
CCDC85C	317762	.	GRCh37	14	100070278	100070278	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1366750011	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	10	0	ENST00000380243.4:c.19A>G	p.Thr7Ala	p.T7A	ENST00000380243	NM_001144995.1	7	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS45161.1	19	MUTECT|MUSE	.	CGCCGTCGCCG	NONE	.	.	hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF14,Low_complexity_(Seg):seg	.	.	ENSP00000369592	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000380243	Transcript	.	.	ENSG00000205476	35459	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(1)	.	CC85C_HUMAN	CCDC85C	HGNC	G3V5D5_HUMAN,G3V2D7_HUMAN	.	UPI0000D62448	SNV	CCDC85C,missense_variant,p.Thr7Ala,ENST00000380243,;RP11-543C4.1,upstream_gene_variant,,ENST00000502101,;	86	10	10	SUCCESS
OR4Q3	441669	.	GRCh37	14	20216431	20216431	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	111	0	ENST00000331723.1:c.845T>C	p.Met282Thr	p.M282T	ENST00000331723	NM_172194.1	282	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS32020.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTATGTTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000330049	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331723	Transcript	.	.	ENSG00000182652	15426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	deleterious(0)	.	OR4Q3_HUMAN	OR4Q3	HGNC	.	.	UPI0000061EF0	SNV	OR4Q3,missense_variant,p.Met282Thr,ENST00000331723,;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	845	111	95	SUCCESS
PCK2	5106	.	GRCh37	14	24563556	24563556	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	45	0	ENST00000216780.4:c.-59T>G		p.*20*	ENST00000216780	NM_004563.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9609.1	.	MUTECT|MUSE|VARSCANS	.	CGCCTTCCATA	NONE	.	.	.	.	.	ENSP00000216780	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,5_prime_UTR_variant,,ENST00000216780,;PCK2,5_prime_UTR_variant,,ENST00000561286,;PCK2,5_prime_UTR_variant,,ENST00000396973,;PCK2,5_prime_UTR_variant,,ENST00000545054,;NRL,intron_variant,,ENST00000558280,;NRL,intron_variant,,ENST00000396997,;PCK2,intron_variant,,ENST00000559250,;NRL,intron_variant,,ENST00000561028,;PCK2,intron_variant,,ENST00000559837,;PCK2,intron_variant,,ENST00000560736,;PCK2,upstream_gene_variant,,ENST00000558096,;PCK2,upstream_gene_variant,,ENST00000560657,;PCK2,5_prime_UTR_variant,,ENST00000560106,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,upstream_gene_variant,,ENST00000559503,;PCK2,upstream_gene_variant,,ENST00000559584,;	210	45	72	SUCCESS
ACOT2	10965	.	GRCh37	14	74035870	74035870	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	34	0	ENST00000238651.5:c.-75T>C		p.*25*	ENST00000238651	NM_006821.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9816.1	.	MUTECT|MUSE	.	TGGACTCTGGC	NONE	.	.	.	.	.	ENSP00000238651	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000238651	Transcript	.	.	ENSG00000119673	18431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACOT2_HUMAN	ACOT2	HGNC	.	.	UPI000013CA4E	SNV	ACOT2,5_prime_UTR_variant,,ENST00000238651,;ACOT2,intron_variant,,ENST00000538782,;NT5CP1,downstream_gene_variant,,ENST00000554092,;	108	34	44	SUCCESS
ACOT2	10965	.	GRCh37	14	74035872	74035872	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	34	0	ENST00000238651.5:c.-73T>C		p.*25*	ENST00000238651	NM_006821.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9816.1	.	MUTECT|MUSE	.	GACTCTGGCCT	NONE	.	.	.	.	.	ENSP00000238651	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000238651	Transcript	.	.	ENSG00000119673	18431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACOT2_HUMAN	ACOT2	HGNC	.	.	UPI000013CA4E	SNV	ACOT2,5_prime_UTR_variant,,ENST00000238651,;ACOT2,intron_variant,,ENST00000538782,;NT5CP1,downstream_gene_variant,,ENST00000554092,;	110	34	45	SUCCESS
DNM1P46	196968	.	GRCh37	15	100332423	100332423	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	8	0	ENST00000341853.1:n.1769T>C		p.*590*	ENST00000341853				0	.	.	.	.	.	G	.	miRNA	YES	.	.	MUTECT|MUSE	.	CCTGGAGGAGA	NONE	.	79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408584	Transcript	.	.	ENSG00000221511	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC090825.1	Clone_based_ensembl_gene	.	.	.	SNV	AC090825.1,upstream_gene_variant,,ENST00000408584,;RN7SL484P,downstream_gene_variant,,ENST00000462651,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000561042,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000341853,;DNM1P46,non_coding_transcript_exon_variant,,ENST00000559110,;CTD-2054N24.1,non_coding_transcript_exon_variant,,ENST00000557959,;	.	8	12	SUCCESS
MGA	23269	.	GRCh37	15	41988768	41988768	+	synonymous_variant	Silent	SNP	C	C	T	rs764790937	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	57	127	0	ENST00000219905.7:c.1560C>T	p.Phe520=	p.F520=	ENST00000219905	NM_001164273.1	520	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS55959.1	1560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCTGCTT	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	3/24	.	.	.	.	.	.	.	.	rs764790937	3/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,synonymous_variant,p.%3D,ENST00000219905,;MGA,synonymous_variant,p.%3D,ENST00000563576,;MGA,synonymous_variant,p.%3D,ENST00000570161,;MGA,synonymous_variant,p.%3D,ENST00000545763,;MGA,synonymous_variant,p.%3D,ENST00000389936,;MGA,synonymous_variant,p.%3D,ENST00000566718,;MGA,synonymous_variant,p.%3D,ENST00000566586,;MIR626,downstream_gene_variant,,ENST00000385032,;MGA,non_coding_transcript_exon_variant,,ENST00000568630,;	1741	127	155	SUCCESS
LRRC57	255252	.	GRCh37	15	42839593	42839593	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	114	0	ENST00000323443.2:c.358C>G	p.Leu120Val	p.L120V	ENST00000323443		120	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS10089.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAGTTGGT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000326817	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000323443	Transcript	.	.	ENSG00000180979	26719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0.04)	.	LRC57_HUMAN	LRRC57	HGNC	H3BSW0_HUMAN	.	UPI000004F8C8	SNV	LRRC57,missense_variant,p.Leu120Val,ENST00000323443,;LRRC57,missense_variant,p.Leu120Val,ENST00000563454,;LRRC57,missense_variant,p.Leu120Val,ENST00000397130,;LRRC57,missense_variant,p.Leu120Val,ENST00000570160,;HAUS2,upstream_gene_variant,,ENST00000568846,;HAUS2,upstream_gene_variant,,ENST00000562398,;SNAP23,downstream_gene_variant,,ENST00000563830,;SNAP23,downstream_gene_variant,,ENST00000568841,;HAUS2,upstream_gene_variant,,ENST00000568876,;HAUS2,upstream_gene_variant,,ENST00000260372,;SNAP23,downstream_gene_variant,,ENST00000563873,;LRRC57,non_coding_transcript_exon_variant,,ENST00000569830,;HAUS2,upstream_gene_variant,,ENST00000391623,;HAUS2,upstream_gene_variant,,ENST00000563479,;HAUS2,upstream_gene_variant,,ENST00000567640,;LRRC57,upstream_gene_variant,,ENST00000562868,;HAUS2,upstream_gene_variant,,ENST00000570178,;HAUS2,upstream_gene_variant,,ENST00000564279,;	726	114	122	SUCCESS
PRTG	283659	.	GRCh37	15	55972370	55972370	+	synonymous_variant	Silent	SNP	T	T	G	rs766493134	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	82	190	0	ENST00000389286.4:c.855A>C	p.Gly285=	p.G285=	ENST00000389286	NM_173814.4	285	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS42040.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTTCCAAG	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF20,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	.	.	ENSP00000373937	.	6/20	.	.	.	.	.	.	.	.	rs766493134	6/20	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,synonymous_variant,p.%3D,ENST00000389286,;PRTG,upstream_gene_variant,,ENST00000561465,;RP11-420M1.2,upstream_gene_variant,,ENST00000561155,;PRTG,upstream_gene_variant,,ENST00000559842,;	903	190	202	SUCCESS
IGDCC4	57722	.	GRCh37	15	65693281	65693281	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	60	0	ENST00000352385.2:c.704C>T	p.Ser235Phe	p.S235F	ENST00000352385	NM_020962.1	235	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS10206.1	704	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGACCCT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40	.	.	ENSP00000319623	.	5/20	.	.	.	.	.	.	.	.	COSM1161137	5/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.535)	.	deleterious(0.02)	1	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,missense_variant,p.Ser235Phe,ENST00000352385,;IGDCC4,upstream_gene_variant,,ENST00000559327,;	914	60	77	SUCCESS
COMMD4	54939	.	GRCh37	15	75628401	75628401	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs769069935	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	91	181	0	ENST00000267935.8:c.-30G>A		p.*10*	ENST00000267935	NM_017828.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10277.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGAAATT	NONE	.	.	.	.	.	ENSP00000267935	.	1/8	.	.	.	.	.	.	.	.	rs769069935	1/8	PASS	ENST00000267935	Transcript	.	.	ENSG00000140365	26027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMD4_HUMAN	COMMD4	HGNC	.	.	UPI000004A01C	SNV	COMMD4,5_prime_UTR_variant,,ENST00000267935,;COMMD4,5_prime_UTR_variant,,ENST00000338995,;COMMD4,5_prime_UTR_variant,,ENST00000564815,;COMMD4,5_prime_UTR_variant,,ENST00000567195,;COMMD4,upstream_gene_variant,,ENST00000562789,;COMMD4,upstream_gene_variant,,ENST00000567377,;COMMD4,upstream_gene_variant,,ENST00000568301,;COMMD4,upstream_gene_variant,,ENST00000561662,;COMMD4,5_prime_UTR_variant,,ENST00000562610,;COMMD4,non_coding_transcript_exon_variant,,ENST00000567023,;COMMD4,non_coding_transcript_exon_variant,,ENST00000566843,;COMMD4,upstream_gene_variant,,ENST00000565517,;COMMD4,upstream_gene_variant,,ENST00000566230,;COMMD4,upstream_gene_variant,,ENST00000569245,;COMMD4,upstream_gene_variant,,ENST00000565834,;COMMD4,upstream_gene_variant,,ENST00000564068,;COMMD4,upstream_gene_variant,,ENST00000567935,;COMMD4,upstream_gene_variant,,ENST00000562310,;COMMD4,upstream_gene_variant,,ENST00000567399,;COMMD4,upstream_gene_variant,,ENST00000568877,;COMMD4,upstream_gene_variant,,ENST00000568034,;COMMD4,upstream_gene_variant,,ENST00000567720,;COMMD4,upstream_gene_variant,,ENST00000563220,;COMMD4,upstream_gene_variant,,ENST00000564587,;COMMD4,upstream_gene_variant,,ENST00000480484,;	170	181	213	SUCCESS
AKAP13	11214	.	GRCh37	15	86124904	86124904	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	52	0	ENST00000394518.2:c.3605C>G	p.Ser1202Ter	p.S1202*	ENST00000394518	NM_007200.4	1202	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS32320.1	3605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTCAGCCC	NONE	.	.	hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	7/37	.	.	.	.	.	.	.	.	.	7/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,stop_gained,p.Ser1202Ter,ENST00000394518,;AKAP13,stop_gained,p.Ser1202Ter,ENST00000559362,;AKAP13,stop_gained,p.Ser1202Ter,ENST00000361243,;AKAP13,downstream_gene_variant,,ENST00000558166,;AKAP13,downstream_gene_variant,,ENST00000558811,;RP11-815J21.2,upstream_gene_variant,,ENST00000561409,;AKAP13,upstream_gene_variant,,ENST00000560340,;AKAP13,upstream_gene_variant,,ENST00000561337,;	3686	52	51	SUCCESS
AGBL1	123624	.	GRCh37	15	86814917	86814917	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	89	0	ENST00000441037.2:c.1917C>T	p.Gly639=	p.G639=	ENST00000441037	NM_152336.2	639	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS58398.1	1917	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCCATGA	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756	.	.	ENSP00000413001	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	2012	89	96	SUCCESS
CREBBP	1387	.	GRCh37	16	3778017	3778017	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753595183	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	41	80	1	ENST00000262367.5:c.7031G>A	p.Arg2344Gln	p.R2344Q	ENST00000262367	NM_004380.2	2344	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10509.1	7031	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACCGCACC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	.	.	ENSP00000262367	.	31/31	.	.	.	.	.	.	.	.	rs753595183	31/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,missense_variant,p.Arg2344Gln,ENST00000262367,;CREBBP,missense_variant,p.Arg2306Gln,ENST00000382070,;CREBBP,downstream_gene_variant,,ENST00000571763,;CREBBP,downstream_gene_variant,,ENST00000576720,;	7841	81	97	SUCCESS
LONP2	83752	.	GRCh37	16	48385598	48385598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	72	0	ENST00000285737.4:c.2444T>C	p.Val815Ala	p.V815A	ENST00000285737	NM_031490.2	815	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10734.1	2444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACGTACGAC	NONE	.	.	HAMAP:MF_03121,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00763,Pfam_domain:PF05362,PIRSF_domain:PIRSF001174,Superfamily_domains:SSF54211	.	.	ENSP00000285737	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000285737	Transcript	.	.	ENSG00000102910	20598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	tolerated(0.09)	.	LONP2_HUMAN	LONP2	HGNC	Q9BU35_HUMAN	.	UPI000000DCD1	SNV	LONP2,splice_donor_variant,,ENST00000565867,;LONP2,missense_variant,p.Val771Ala,ENST00000535754,;LONP2,missense_variant,p.Val815Ala,ENST00000285737,;LONP2,non_coding_transcript_exon_variant,,ENST00000564259,;SIAH1,downstream_gene_variant,,ENST00000565620,;LONP2,3_prime_UTR_variant,,ENST00000566755,;LONP2,downstream_gene_variant,,ENST00000416006,;LONP2,upstream_gene_variant,,ENST00000565185,;LONP2,upstream_gene_variant,,ENST00000566719,;SIAH1,downstream_gene_variant,,ENST00000568007,;	2537	72	81	SUCCESS
DNAH9	1770	.	GRCh37	17	11650915	11650915	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767566644	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	48	0	ENST00000262442.4:c.6442T>C	p.Phe2148Leu	p.F2148L	ENST00000262442	NM_001372.3	2148	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS11160.1	6442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTATTTGTG	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF07728,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000262442	.	32/69	.	.	.	.	.	.	.	.	rs767566644	32/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Phe2148Leu,ENST00000454412,;DNAH9,missense_variant,p.Phe2148Leu,ENST00000262442,;	6510	48	78	SUCCESS
B9D1	27077	.	GRCh37	17	19250403	19250403	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	69	0	ENST00000261499.4:c.404+179T>C		p.*135*	ENST00000261499	NM_015681.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11205.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAACAGGG	NONE	.	.	.	.	.	ENSP00000261499	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261499	Transcript	.	.	ENSG00000108641	24123	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B9D1_HUMAN	B9D1	HGNC	.	.	UPI0000072F33	SNV	B9D1,3_prime_UTR_variant,,ENST00000440841,;B9D1,3_prime_UTR_variant,,ENST00000268841,;B9D1,intron_variant,,ENST00000261499,;B9D1,intron_variant,,ENST00000461069,;B9D1,intron_variant,,ENST00000395615,;B9D1,intron_variant,,ENST00000575403,;B9D1,intron_variant,,ENST00000477478,;B9D1,intron_variant,,ENST00000575478,;B9D1,intron_variant,,ENST00000395616,;B9D1,downstream_gene_variant,,ENST00000574508,;MIR1180,upstream_gene_variant,,ENST00000408613,;B9D1,downstream_gene_variant,,ENST00000582857,;B9D1,downstream_gene_variant,,ENST00000477683,;	.	69	83	SUCCESS
CRLF3	51379	.	GRCh37	17	29123225	29123225	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763824800	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	8	92	0	ENST00000324238.6:c.556G>A	p.Glu186Lys	p.E186K	ENST00000324238	NM_015986.3	186	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS32607.1	556	MUTECT|MUSE|VARSCANS	.	TTCTTCTATCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR15828,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000318804	.	4/8	.	.	.	.	.	.	.	.	rs763824800	4/8	PASS	ENST00000324238	Transcript	.	.	ENSG00000176390	17177	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	CRLF3_HUMAN	CRLF3	HGNC	B4DJU5_HUMAN	.	UPI0000231BEA	SNV	CRLF3,missense_variant,p.Glu186Lys,ENST00000324238,;CRLF3,missense_variant,p.Glu70Lys,ENST00000544695,;CTD-2349P21.9,downstream_gene_variant,,ENST00000580085,;CRLF3,intron_variant,,ENST00000577725,;CRLF3,3_prime_UTR_variant,,ENST00000578692,;	681	92	107	SUCCESS
CDK5R1	8851	.	GRCh37	17	30814609	30814609	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	39	0	ENST00000313401.3:c.-30G>T		p.*10*	ENST00000313401	NM_003885.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11273.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGCGAGC	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	SNV	CDK5R1,5_prime_UTR_variant,,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,upstream_gene_variant,,ENST00000584792,;PSMD11,downstream_gene_variant,,ENST00000261712,;CDK5R1,upstream_gene_variant,,ENST00000584716,;	660	39	37	SUCCESS
AP2B1	163	.	GRCh37	17	33968894	33968894	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	56	0	ENST00000312678.8:c.1438-2A>T		p.X480_splice	ENST00000312678	NM_001030006.1	480		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32621.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTAGGTGC	NONE	.	.	.	.	.	ENSP00000314414	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	HIGH	11/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,splice_acceptor_variant,,ENST00000589344,;AP2B1,splice_acceptor_variant,,ENST00000262325,;AP2B1,splice_acceptor_variant,,ENST00000312678,;AP2B1,splice_acceptor_variant,,ENST00000592545,;AP2B1,splice_acceptor_variant,,ENST00000538556,;AP2B1,splice_acceptor_variant,,ENST00000537622,;AP2B1,splice_acceptor_variant,,ENST00000545922,;AP2B1,splice_acceptor_variant,,ENST00000592191,;AP2B1,splice_acceptor_variant,,ENST00000588116,;	.	56	60	SUCCESS
STAC2	342667	.	GRCh37	17	37381805	37381805	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	22	0	ENST00000333461.5:c.-50G>T		p.*17*	ENST00000333461	NM_198993.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11335.1	.	RADIA|MUTECT|MUSE	.	GCCCACCGCGG	NONE	.	.	.	.	.	ENSP00000327509	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000333461	Transcript	.	.	ENSG00000141750	23990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAC2_HUMAN	STAC2	HGNC	D0IN09_HUMAN	.	UPI0000223E4D	SNV	STAC2,5_prime_UTR_variant,,ENST00000333461,;STAC2,5_prime_UTR_variant,,ENST00000584501,;	321	22	11	SUCCESS
HDAC5	10014	.	GRCh37	17	42171077	42171077	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	49	78	0	ENST00000586802.1:c.220C>A	p.Gln74Lys	p.Q74K	ENST00000586802		74	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS32663.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGCTCCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12203,PIRSF_domain:PIRSF037911	.	.	ENSP00000225983	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000225983	Transcript	.	.	ENSG00000108840	14068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.47)	.	HDAC5_HUMAN	HDAC5	HGNC	K7EJZ7_HUMAN,K7EJL6_HUMAN	.	UPI0000508BBA	SNV	HDAC5,missense_variant,p.Gln74Lys,ENST00000393622,;HDAC5,missense_variant,p.Gln75Lys,ENST00000225983,;HDAC5,missense_variant,p.Gln65Lys,ENST00000588703,;HDAC5,missense_variant,p.Gln74Lys,ENST00000586802,;HDAC5,missense_variant,p.Gln74Lys,ENST00000336057,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,upstream_gene_variant,,ENST00000588261,;HDAC5,upstream_gene_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;	547	78	114	SUCCESS
HDAC5	10014	.	GRCh37	17	42171078	42171078	+	synonymous_variant	Silent	SNP	C	C	T	rs751619090	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	48	78	0	ENST00000586802.1:c.219G>A	p.Glu73=	p.E73=	ENST00000586802		73	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS32663.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTCCCG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12203,PIRSF_domain:PIRSF037911	.	.	ENSP00000225983	.	4/27	.	.	.	.	.	.	.	.	rs751619090	4/27	PASS	ENST00000225983	Transcript	.	.	ENSG00000108840	14068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC5_HUMAN	HDAC5	HGNC	K7EJZ7_HUMAN,K7EJL6_HUMAN	.	UPI0000508BBA	SNV	HDAC5,synonymous_variant,p.%3D,ENST00000393622,;HDAC5,synonymous_variant,p.%3D,ENST00000225983,;HDAC5,synonymous_variant,p.%3D,ENST00000588703,;HDAC5,synonymous_variant,p.%3D,ENST00000586802,;HDAC5,synonymous_variant,p.%3D,ENST00000336057,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,upstream_gene_variant,,ENST00000588261,;HDAC5,upstream_gene_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;	546	78	112	SUCCESS
ITGA2B	3674	.	GRCh37	17	42452979	42452979	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	90	0	ENST00000262407.5:c.2707C>A	p.Leu903Ile	p.L903I	ENST00000262407	NM_000419.3	903	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS32665.1	2707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGCCTCG	NONE	.	.	hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Gene3D:1jv2A04,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000262407	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000262407	Transcript	.	.	ENSG00000005961	6138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	tolerated(0.33)	.	ITA2B_HUMAN	ITGA2B	HGNC	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN	.	UPI00001868B8	SNV	ITGA2B,missense_variant,p.Leu903Ile,ENST00000353281,;ITGA2B,missense_variant,p.Leu903Ile,ENST00000262407,;ITGA2B,intron_variant,,ENST00000587295,;ITGA2B,downstream_gene_variant,,ENST00000377068,;ITGA2B,upstream_gene_variant,,ENST00000588098,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592462,;ITGA2B,downstream_gene_variant,,ENST00000592226,;	2739	90	90	SUCCESS
OR4D2	124538	.	GRCh37	17	56247048	56247048	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	41	130	0	ENST00000545221.1:c.32A>T	p.Asp11Val	p.D11V	ENST00000545221	NM_001004707.3	11	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS32688.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGACTTTG	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF315,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000441354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000545221	Transcript	.	.	ENSG00000255713	8294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.01)	.	OR4D2_HUMAN	OR4D2	HGNC	.	.	UPI0000000DB3	SNV	OR4D2,missense_variant,p.Asp11Val,ENST00000545221,;	32	130	102	SUCCESS
SECTM1	6398	.	GRCh37	17	80280192	80280192	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766594826	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	82	0	ENST00000269389.3:c.592G>A	p.Ala198Thr	p.A198T	ENST00000269389	NM_003004.2	198	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11808.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCTCCCG	NONE	.	.	hmmpanther:PTHR15123,hmmpanther:PTHR15123:SF5	.	.	ENSP00000269389	.	5/5	.	.	.	.	.	.	.	.	rs766594826	5/5	PASS	ENST00000269389	Transcript	.	.	ENSG00000141574	10707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	SCTM1_HUMAN	SECTM1	HGNC	J3QRU5_HUMAN,J3KTR4_HUMAN,J3KS40_HUMAN	.	UPI00000359A5	SNV	SECTM1,missense_variant,p.Ala198Thr,ENST00000269389,;SECTM1,3_prime_UTR_variant,,ENST00000580437,;CD7,upstream_gene_variant,,ENST00000582480,;CD7,upstream_gene_variant,,ENST00000584284,;CD7,upstream_gene_variant,,ENST00000583376,;SECTM1,downstream_gene_variant,,ENST00000583093,;SECTM1,downstream_gene_variant,,ENST00000581954,;SECTM1,downstream_gene_variant,,ENST00000582290,;CD7,upstream_gene_variant,,ENST00000312648,;SECTM1,downstream_gene_variant,,ENST00000581691,;SECTM1,downstream_gene_variant,,ENST00000582563,;CD7,upstream_gene_variant,,ENST00000578509,;SECTM1,3_prime_UTR_variant,,ENST00000581864,;CD7,upstream_gene_variant,,ENST00000581434,;CD7,upstream_gene_variant,,ENST00000581744,;	943	82	76	SUCCESS
FN3KRP	79672	.	GRCh37	17	80684867	80684867	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	93	0	ENST00000269373.6:c.750C>T	p.Gly250=	p.G250=	ENST00000269373	NM_024619.3	250	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS11817.1	750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCATGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12149:SF6,hmmpanther:PTHR12149,Pfam_domain:PF03881,PIRSF_domain:PIRSF006221,Superfamily_domains:SSF56112	.	.	ENSP00000269373	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000269373	Transcript	.	.	ENSG00000141560	25700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KT3K_HUMAN	FN3KRP	HGNC	I3L378_HUMAN,F5H4E4_HUMAN	.	UPI000006F7D6	SNV	FN3KRP,synonymous_variant,p.%3D,ENST00000269373,;FN3KRP,synonymous_variant,p.%3D,ENST00000573158,;FN3KRP,synonymous_variant,p.%3D,ENST00000535965,;FN3KRP,intron_variant,,ENST00000577128,;RP11-388C12.5,downstream_gene_variant,,ENST00000570919,;FN3KRP,3_prime_UTR_variant,,ENST00000574832,;FN3KRP,non_coding_transcript_exon_variant,,ENST00000576363,;FN3KRP,upstream_gene_variant,,ENST00000571594,;FN3KRP,downstream_gene_variant,,ENST00000574206,;FN3KRP,downstream_gene_variant,,ENST00000574356,;FN3KRP,downstream_gene_variant,,ENST00000571482,;	823	93	103	SUCCESS
LAMA3	3909	.	GRCh37	18	21343451	21343451	+	synonymous_variant	Silent	SNP	C	C	T	rs748342390	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	97	0	ENST00000313654.9:c.1146C>T	p.Gly382=	p.G382=	ENST00000313654	NM_198129.1	382	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42419.1	1146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCATCTA	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000324532	.	8/75	.	.	.	.	.	.	.	.	rs748342390	8/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,synonymous_variant,p.%3D,ENST00000313654,;LAMA3,synonymous_variant,p.%3D,ENST00000399516,;LAMA3,synonymous_variant,p.%3D,ENST00000585600,;	1387	97	95	SUCCESS
TTC39C	125488	.	GRCh37	18	21649143	21649143	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750316061	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	51	97	0	ENST00000317571.3:c.368C>T	p.Pro123Leu	p.P123L	ENST00000317571	NM_001135993.1	123	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45839.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCCTCTA	NONE	byFrequency	.	Pfam_domain:PF10300,hmmpanther:PTHR31859	.	.	ENSP00000323645	.	4/14	.	.	.	.	.	.	.	.	rs750316061	4/14	PASS	ENST00000317571	Transcript	.	.	ENSG00000168234	26595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	TT39C_HUMAN	TTC39C	HGNC	J3QKX7_HUMAN	.	UPI0000EF8875	SNV	TTC39C,missense_variant,p.Pro123Leu,ENST00000317571,;TTC39C,missense_variant,p.Pro62Leu,ENST00000304621,;TTC39C,intron_variant,,ENST00000578150,;	604	97	116	SUCCESS
TAF4B	6875	.	GRCh37	18	23937719	23937719	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	309	199	389	1	ENST00000269142.5:c.2382T>A	p.Ile794=	p.I794=	ENST00000269142	NM_005640.1	794	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS42421.1	2382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATTGGACC	NONE	.	.	hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11,Pfam_domain:PF05236	.	.	ENSP00000269142	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000269142	Transcript	.	.	ENSG00000141384	11538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF4B_HUMAN	TAF4B	HGNC	B4DYT3_HUMAN,A4PBF8_HUMAN	.	UPI00006C65F2	SNV	TAF4B,synonymous_variant,p.%3D,ENST00000578121,;TAF4B,synonymous_variant,p.%3D,ENST00000269142,;TAF4B,3_prime_UTR_variant,,ENST00000418698,;	3380	390	509	SUCCESS
ZNF271	0	.	GRCh37	18	32886895	32886895	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	64	133	0	ENST00000399070.3:n.1289T>G		p.*430*	ENST00000399070				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAATTCACA	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399070	Transcript	.	.	ENSG00000257267	13065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF271	HGNC	.	.	.	SNV	ZNF271,non_coding_transcript_exon_variant,,ENST00000399070,;ZNF271,non_coding_transcript_exon_variant,,ENST00000465539,;ZNF271,non_coding_transcript_exon_variant,,ENST00000540308,;	1289	133	140	SUCCESS
TMED1	11018	.	GRCh37	19	10943778	10943791	+	frameshift_variant	Frame_Shift_Del	DEL	CCCGCTCCAAGTTG	CCCGCTCCAAGTTG	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	CCCGCTCCAAGTTG	CCCGCTCCAAGTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	84	36	103	0	ENST00000214869.2:c.564_577del	p.Asn189GlnfsTer81	p.N189Qfs*81	ENST00000214869	NM_006858.3	188	ggCAACTTGGAGCGGGtc/ggtc	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45969.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTTGACCCGCTCCAAGTTGCCCTC	NONE	.	1199	.	.	.	ENSP00000373905	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389253	Transcript	1	.	ENSG00000079805	2974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYN2_HUMAN	DNM2	HGNC	Q8N1K8_HUMAN,K7EPK9_HUMAN	.	UPI000049A626	deletion	DNM2,frameshift_variant,p.Arg52LeufsTer14,ENST00000591818,;TMED1,frameshift_variant,p.Asn171GlnfsTer?,ENST00000589638,;TMED1,frameshift_variant,p.Asn44GlnfsTer?,ENST00000588289,;TMED1,frameshift_variant,p.Asn189GlnfsTer81,ENST00000214869,;TMED1,frameshift_variant,p.Ala127ValfsTer36,ENST00000591695,;TMED1,3_prime_UTR_variant,,ENST00000586835,;DNM2,downstream_gene_variant,,ENST00000359692,;DNM2,downstream_gene_variant,,ENST00000585892,;C19orf38,upstream_gene_variant,,ENST00000592854,;DNM2,downstream_gene_variant,,ENST00000389253,;DNM2,downstream_gene_variant,,ENST00000355667,;DNM2,downstream_gene_variant,,ENST00000314646,;DNM2,downstream_gene_variant,,ENST00000589106,;DNM2,downstream_gene_variant,,ENST00000408974,;TMED1,3_prime_UTR_variant,,ENST00000591157,;TMED1,3_prime_UTR_variant,,ENST00000588259,;DNM2,non_coding_transcript_exon_variant,,ENST00000593203,;DNM2,downstream_gene_variant,,ENST00000590806,;	.	103	120	SUCCESS
DOCK6	57572	.	GRCh37	19	11339658	11339658	+	synonymous_variant	Silent	SNP	G	G	A	rs201482446	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	43	116	0	ENST00000294618.7:c.2772C>T	p.Arg924=	p.R924=	ENST00000294618	NM_020812.3	924	cgC/cgT	0	C:0.0026	C:0.0015	.	C:0	.	A	R	protein_coding	YES	CCDS45975.1	2772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGCGTAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	C:0.004	C:0	ENSP00000294618	C:0	23/48	.	.	.	.	.	.	.	.	rs201482446	23/48	PASS	ENST00000294618	Transcript	1	C:0.0012	ENSG00000130158	19189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	DOCK6_HUMAN	DOCK6	HGNC	.	.	UPI000059D66F	SNV	DOCK6,synonymous_variant,p.%3D,ENST00000590680,;DOCK6,synonymous_variant,p.%3D,ENST00000319867,;DOCK6,synonymous_variant,p.%3D,ENST00000294618,;DOCK6,synonymous_variant,p.%3D,ENST00000587656,;DOCK6,downstream_gene_variant,,ENST00000585904,;RN7SL298P,downstream_gene_variant,,ENST00000581369,;DOCK6,non_coding_transcript_exon_variant,,ENST00000590452,;	2784	116	150	SUCCESS
ZNF20	7568	.	GRCh37	19	12244794	12244794	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	26	0	ENST00000334213.5:c.207G>A	p.Met69Ile	p.M69I	ENST00000334213	NM_001203250.1	69	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS45986.1	207	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTCTCATAAG	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF121,PROSITE_profiles:PS50805	.	.	ENSP00000335437	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000334213	Transcript	.	.	ENSG00000132010	12992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.36)	.	ZNF20_HUMAN	ZNF20	HGNC	Q86XA2_HUMAN	.	UPI000013C404	SNV	ZNF20,missense_variant,p.Met66Ile,ENST00000418866,;ZNF20,missense_variant,p.Met69Ile,ENST00000334213,;ZNF20,intron_variant,,ENST00000600335,;ZNF20,non_coding_transcript_exon_variant,,ENST00000485451,;ZNF20,intron_variant,,ENST00000480770,;ZNF788,intron_variant,,ENST00000601686,;ZNF20,downstream_gene_variant,,ENST00000480477,;ZNF20,3_prime_UTR_variant,,ENST00000454949,;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000430024,;ZNF20,downstream_gene_variant,,ENST00000478942,;	432	26	69	SUCCESS
MVB12A	93343	.	GRCh37	19	17534830	17534830	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761237198	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	23	0	ENST00000317040.7:c.656C>T	p.Pro219Leu	p.P219L	ENST00000317040		219	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12359.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCCCTTCA	NONE	byFrequency	.	PROSITE_profiles:PS51497,hmmpanther:PTHR31612:SF1,hmmpanther:PTHR31612,Pfam_domain:PF10240	.	.	ENSP00000324810	.	7/9	.	.	.	.	.	.	.	.	rs761237198	7/9	PASS	ENST00000317040	Transcript	.	.	ENSG00000141971	25153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	MB12A_HUMAN	MVB12A	HGNC	E9PLZ8_HUMAN,E9PLL0_HUMAN	.	UPI0000039EC7	SNV	MVB12A,missense_variant,p.Pro219Leu,ENST00000529939,;MVB12A,missense_variant,p.Pro179Leu,ENST00000392702,;MVB12A,missense_variant,p.Pro219Leu,ENST00000543795,;MVB12A,missense_variant,p.Pro177Ser,ENST00000528515,;MVB12A,missense_variant,p.Pro80Leu,ENST00000528604,;MVB12A,missense_variant,p.Pro219Leu,ENST00000317040,;MVB12A,missense_variant,p.Pro87Leu,ENST00000594784,;MVB12A,downstream_gene_variant,,ENST00000528911,;MVB12A,downstream_gene_variant,,ENST00000528659,;MVB12A,downstream_gene_variant,,ENST00000600514,;CTD-2521M24.6,upstream_gene_variant,,ENST00000593957,;CTD-2521M24.8,upstream_gene_variant,,ENST00000597028,;MVB12A,downstream_gene_variant,,ENST00000529490,;MVB12A,non_coding_transcript_exon_variant,,ENST00000524382,;MVB12A,downstream_gene_variant,,ENST00000528732,;MVB12A,downstream_gene_variant,,ENST00000526234,;MVB12A,downstream_gene_variant,,ENST00000528997,;	1711	23	41	SUCCESS
ATP8B3	148229	.	GRCh37	19	1806102	1806102	+	synonymous_variant	Silent	SNP	G	G	A	rs368672940	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	51	0	ENST00000310127.6:c.744C>T	p.Ile248=	p.I248=	ENST00000310127	NM_138813.3	248	atC/atT	0	A:0	A:0	.	A:0	.	A	I	protein_coding	YES	CCDS45901.1	744	RADIA|MUTECT|MUSE	.	GGGACGATGTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24092:SF44,hmmpanther:PTHR24092,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049471	A:0	A:0.0005	ENSP00000311336	A:0	8/29	.	.	.	.	.	.	.	.	rs368672940	8/29	common_in_exac	ENST00000310127	Transcript	.	A:0.0006	ENSG00000130270	13535	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.0031	.	.	AT8B3_HUMAN	ATP8B3	HGNC	.	.	UPI0000074660	SNV	ATP8B3,synonymous_variant,p.%3D,ENST00000310127,;ATP8B3,synonymous_variant,p.%3D,ENST00000533993,;ATP8B3,synonymous_variant,p.%3D,ENST00000539485,;ATP8B3,synonymous_variant,p.%3D,ENST00000526092,;ATP8B3,synonymous_variant,p.%3D,ENST00000525591,;ATP8B3,downstream_gene_variant,,ENST00000587160,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,non_coding_transcript_exon_variant,,ENST00000533107,;	983	51	68	SUCCESS
LPAR2	9170	.	GRCh37	19	19737371	19737371	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	53	140	0	ENST00000407877.3:c.723G>A	p.Lys241=	p.K241=	ENST00000407877	NM_004720.5	241	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS12407.1	723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCTTGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF38,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000443256	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000542587	Transcript	.	.	ENSG00000064547	3168	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPAR2_HUMAN	LPAR2	HGNC	K7ER68_HUMAN,K7ENG7_HUMAN,K7ELJ6_HUMAN,K7EJJ9_HUMAN	.	UPI0000048FD7	SNV	LPAR2,synonymous_variant,p.%3D,ENST00000586703,;LPAR2,synonymous_variant,p.%3D,ENST00000542587,;LPAR2,synonymous_variant,p.%3D,ENST00000407877,;GMIP,downstream_gene_variant,,ENST00000587238,;GMIP,downstream_gene_variant,,ENST00000203556,;LPAR2,downstream_gene_variant,,ENST00000588233,;LPAR2,downstream_gene_variant,,ENST00000588461,;LPAR2,downstream_gene_variant,,ENST00000592061,;GMIP,downstream_gene_variant,,ENST00000445806,;LPAR2,downstream_gene_variant,,ENST00000591042,;LPAR2,downstream_gene_variant,,ENST00000589311,;LPAR2,downstream_gene_variant,,ENST00000590629,;	1626	140	208	SUCCESS
ZNF14	7561	.	GRCh37	19	19823467	19823467	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	41	108	0	ENST00000344099.3:c.623A>G	p.Tyr208Cys	p.Y208C	ENST00000344099	NM_021030.2	208	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS12409.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAATATATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF21,hmmpanther:PTHR24379,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000340514	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000344099	Transcript	.	.	ENSG00000105708	12924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.24)	.	ZNF14_HUMAN	ZNF14	HGNC	.	.	UPI00001E058E	SNV	ZNF14,missense_variant,p.Tyr208Cys,ENST00000344099,;CTC-412M14.5,downstream_gene_variant,,ENST00000604034,;	762	108	169	SUCCESS
C19orf35	0	.	GRCh37	19	2275927	2275927	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1348552337	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	13	0	ENST00000342063.3:c.1174C>T	p.Arg392Trp	p.R392W	ENST00000342063	NM_198532.2	392	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12087.1	1174	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCCCCGCGTCC	NONE	.	.	hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6	.	.	ENSP00000345102	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000342063	Transcript	.	.	ENSG00000188305	24793	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CS035_HUMAN	C19orf35	HGNC	.	.	UPI00001C0E91	SNV	C19orf35,missense_variant,p.Arg392Trp,ENST00000342063,;OAZ1,downstream_gene_variant,,ENST00000602676,;OAZ1,downstream_gene_variant,,ENST00000322297,;OAZ1,downstream_gene_variant,,ENST00000583542,;OAZ1,downstream_gene_variant,,ENST00000582888,;OAZ1,downstream_gene_variant,,ENST00000588673,;C19orf35,intron_variant,,ENST00000590316,;OAZ1,downstream_gene_variant,,ENST00000592727,;OAZ1,downstream_gene_variant,,ENST00000593012,;OAZ1,downstream_gene_variant,,ENST00000589739,;OAZ1,downstream_gene_variant,,ENST00000590943,;OAZ1,downstream_gene_variant,,ENST00000586054,;OAZ1,downstream_gene_variant,,ENST00000589361,;OAZ1,downstream_gene_variant,,ENST00000592787,;OAZ1,downstream_gene_variant,,ENST00000581150,;	1268	13	19	SUCCESS
RYR1	6261	.	GRCh37	19	39068789	39068789	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	72	0	ENST00000359596.3:c.14309T>A	p.Met4770Lys	p.M4770K	ENST00000359596		4770	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS33011.1	14309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCATGTCCA	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	99/106	.	.	.	.	.	.	.	.	.	99/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Met4765Lys,ENST00000355481,;RYR1,missense_variant,p.Met4765Lys,ENST00000360985,;RYR1,missense_variant,p.Met4770Lys,ENST00000359596,;	14309	72	102	SUCCESS
TIMM50	92609	.	GRCh37	19	39971479	39971479	+	5_prime_UTR_variant	5'UTR	DEL	T	T	-	rs774398398	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	46	0	ENST00000607714.1:c.-15del		p.*5*	ENST00000607714		99		0	.	.	.	.	.	-	W/X	protein_coding	YES	CCDS33023.1	295	INDELOCATOR|VARSCANI	.	GCCGCGTGGCGT	NONE	.	.	hmmpanther:PTHR12210:SF3,hmmpanther:PTHR12210	.	.	ENSP00000318115	.	1/11	.	.	.	.	.	.	.	.	rs774398398	1/11	PASS	ENST00000314349	Transcript	.	.	ENSG00000105197	23656	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIM50_HUMAN	TIMM50	HGNC	.	.	UPI0000161278	deletion	TIMM50,frameshift_variant,p.Trp99GlyfsTer85,ENST00000314349,;TIMM50,5_prime_UTR_variant,,ENST00000607714,;TIMM50,upstream_gene_variant,,ENST00000597666,;SUPT5H,downstream_gene_variant,,ENST00000432763,;SUPT5H,downstream_gene_variant,,ENST00000402194,;TIMM50,upstream_gene_variant,,ENST00000544017,;SUPT5H,downstream_gene_variant,,ENST00000599117,;TIMM50,upstream_gene_variant,,ENST00000599794,;SUPT5H,downstream_gene_variant,,ENST00000359191,;TIMM50,upstream_gene_variant,,ENST00000601403,;SUPT5H,downstream_gene_variant,,ENST00000598725,;TIMM50,upstream_gene_variant,,ENST00000594583,;TIMM50,upstream_gene_variant,,ENST00000602028,;TIMM50,5_prime_UTR_variant,,ENST00000601358,;TIMM50,upstream_gene_variant,,ENST00000598125,;TIMM50,upstream_gene_variant,,ENST00000595286,;TIMM50,upstream_gene_variant,,ENST00000596239,;TIMM50,upstream_gene_variant,,ENST00000597782,;SUPT5H,downstream_gene_variant,,ENST00000600818,;TIMM50,upstream_gene_variant,,ENST00000595961,;TIMM50,upstream_gene_variant,,ENST00000599733,;TIMM50,upstream_gene_variant,,ENST00000602265,;	428	46	78	SUCCESS
FCGBP	8857	.	GRCh37	19	40366455	40366455	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	54	137	0	ENST00000221347.6:c.13779G>A	p.Gly4593=	p.G4593=	ENST00000221347	NM_003890.2	4593	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12546.1	13779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCCCATC	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;	13787	137	245	SUCCESS
HNRNPUL1	11100	.	GRCh37	19	41787180	41787180	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	42	82	0	ENST00000392006.3:c.999G>T		p.X333_splice	ENST00000392006	NM_007040.3	333	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12576.1	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCGGTGAG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000375863	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000392006	Transcript	.	.	ENSG00000105323	17011	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRL1_HUMAN	HNRNPUL1	HGNC	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN	.	UPI000013D3F4	SNV	HNRNPUL1,synonymous_variant,p.%3D,ENST00000392006,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000595018,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000263367,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000602130,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000599614,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000352456,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000599719,;HNRNPUL1,synonymous_variant,p.%3D,ENST00000593587,;HNRNPUL1,intron_variant,,ENST00000378215,;HNRNPUL1,downstream_gene_variant,,ENST00000597725,;HNRNPUL1,downstream_gene_variant,,ENST00000601336,;HNRNPUL1,downstream_gene_variant,,ENST00000594207,;HNRNPUL1,splice_region_variant,,ENST00000595196,;HNRNPUL1,intron_variant,,ENST00000600596,;HNRNPUL1,downstream_gene_variant,,ENST00000600332,;	1172	82	188	SUCCESS
LYPD4	147719	.	GRCh37	19	42343435	42343435	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	39	0	ENST00000330743.3:c.-76T>G		p.*26*	ENST00000330743	NM_173506.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12587.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATCAGT	NONE	.	.	.	.	.	ENSP00000328737	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000330743	Transcript	.	.	ENSG00000183103	28659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYPD4_HUMAN	LYPD4	HGNC	A8K8E0_HUMAN	.	UPI0000366E14	SNV	LYPD4,5_prime_UTR_variant,,ENST00000330743,;LYPD4,5_prime_UTR_variant,,ENST00000601246,;LYPD4,upstream_gene_variant,,ENST00000343055,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	1137	39	99	SUCCESS
IRGC	56269	.	GRCh37	19	44223843	44223843	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	64	0	ENST00000244314.5:c.1133T>G	p.Phe378Cys	p.F378C	ENST00000244314	NM_019612.3	378	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS12629.1	1133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTTGGCG	NONE	.	.	hmmpanther:PTHR32341:SF7,hmmpanther:PTHR32341	.	.	ENSP00000244314	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000244314	Transcript	.	.	ENSG00000124449	28835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	IIGP5_HUMAN	IRGC	HGNC	J7NNX4_HUMAN	.	UPI000011DFC0	SNV	IRGC,missense_variant,p.Phe378Cys,ENST00000244314,;IRGC,downstream_gene_variant,,ENST00000596627,;	1332	64	109	SUCCESS
ERCC2	2068	.	GRCh37	19	45872219	45872219	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	54	135	1	ENST00000391945.4:c.215A>T	p.Tyr72Phe	p.Y72F	ENST00000391945	NM_000400.3	72	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS33049.1	215	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTAGATG	NONE	.	.	PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Gene3D:3.40.50.300,Pfam_domain:PF06733,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488,Superfamily_domains:SSF52540	.	.	ENSP00000375809	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000391945	Transcript	1	.	ENSG00000104884	3434	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.944)	.	deleterious(0.05)	.	ERCC2_HUMAN	ERCC2	HGNC	K7EIT8_HUMAN,A8MX75_HUMAN	.	UPI0000139012	SNV	ERCC2,missense_variant,p.Tyr48Phe,ENST00000391941,;ERCC2,missense_variant,p.Tyr72Phe,ENST00000391944,;ERCC2,missense_variant,p.Tyr48Phe,ENST00000586131,;ERCC2,missense_variant,p.Tyr72Phe,ENST00000391945,;ERCC2,missense_variant,p.Tyr48Phe,ENST00000391940,;ERCC2,missense_variant,p.Tyr72Phe,ENST00000221481,;ERCC2,missense_variant,p.Tyr22Phe,ENST00000586856,;ERCC2,missense_variant,p.Tyr48Phe,ENST00000485403,;ERCC2,missense_variant,p.Tyr72Phe,ENST00000591309,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586441,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586737,;ERCC2,upstream_gene_variant,,ENST00000587376,;	293	137	256	SUCCESS
BAX	581	.	GRCh37	19	49459534	49459534	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs899560616	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	6	83	0	ENST00000345358.7:c.313T>C	p.Phe105Leu	p.F105L	ENST00000345358	NM_138764.4	105	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS12744.1	313	MUTECT|MUSE	.	GCAACTTCAAC	NONE	.	.	PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF8,hmmpanther:PTHR11256,PROSITE_patterns:PS01080,Gene3D:1.10.437.10,Pfam_domain:PF00452,SMART_domains:SM00337,Superfamily_domains:SSF56854	.	.	ENSP00000293288	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000293288	Transcript	.	.	ENSG00000087088	959	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.867)	.	tolerated(0.14)	.	BAX_HUMAN	BAX	HGNC	Q9UEI8_HUMAN,Q8WXU1_HUMAN,Q5ZPJ1_HUMAN,I6LPK7_HUMAN	.	UPI000000D900	SNV	BAX,missense_variant,p.Phe105Leu,ENST00000539787,;BAX,missense_variant,p.Phe105Leu,ENST00000345358,;BAX,missense_variant,p.Phe105Leu,ENST00000415969,;BAX,missense_variant,p.Phe56Leu,ENST00000354470,;BAX,missense_variant,p.Phe105Leu,ENST00000293288,;BAX,missense_variant,p.Phe39Leu,ENST00000506183,;BAX,3_prime_UTR_variant,,ENST00000391871,;BAX,missense_variant,p.Phe105Leu,ENST00000356483,;BAX,3_prime_UTR_variant,,ENST00000515540,;BAX,non_coding_transcript_exon_variant,,ENST00000513545,;BAX,non_coding_transcript_exon_variant,,ENST00000502487,;BAX,non_coding_transcript_exon_variant,,ENST00000503726,;BAX,non_coding_transcript_exon_variant,,ENST00000513217,;	313	84	166	SUCCESS
DKKL1	27120	.	GRCh37	19	49868878	49868879	+	inframe_insertion	In_Frame_Ins	INS	-	-	CCTCTCCAG	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	14	72	0	ENST00000221498.2:c.299_307dup	p.Leu100_Ser102dup	p.L100_S102dup	ENST00000221498	NM_014419.3	100	acc/acCCTCTCCAGc	0	.	.	.	.	.	CCTCTCCAG	T/TLSS	protein_coding	YES	CCDS12762.1	296-297	INDELOCATOR|VARSCANI	.	CAACACCCTCT	NONE	.	.	.	.	.	ENSP00000221498	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000221498	Transcript	.	.	ENSG00000104901	16528	11	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DKKL1_HUMAN	DKKL1	HGNC	M0R2X7_HUMAN,M0QZP1_HUMAN,M0QYJ2_HUMAN	.	UPI00000012EC	insertion	DKKL1,inframe_insertion,p.Leu25_Ser27dup,ENST00000597873,;DKKL1,inframe_insertion,p.Leu100_Ser102dup,ENST00000597546,;DKKL1,inframe_insertion,p.Leu100_Ser102dup,ENST00000221498,;DKKL1,inframe_insertion,p.Leu25_Ser27dup,ENST00000596402,;DKKL1,intron_variant,,ENST00000594268,;DKKL1,intron_variant,,ENST00000598682,;TEAD2,upstream_gene_variant,,ENST00000311227,;TEAD2,upstream_gene_variant,,ENST00000598810,;TEAD2,upstream_gene_variant,,ENST00000539846,;TEAD2,upstream_gene_variant,,ENST00000596757,;TEAD2,upstream_gene_variant,,ENST00000593945,;TEAD2,upstream_gene_variant,,ENST00000601519,;AC010524.2,downstream_gene_variant,,ENST00000599433,;	701-702	72	126	SUCCESS
SLC17A7	57030	.	GRCh37	19	49937289	49937289	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	420	71	189	0	ENST00000221485.3:c.652del	p.Ala218ArgfsTer68	p.A218Rfs*68	ENST00000221485	NM_020309.3	218	Gcg/cg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS12764.1	652	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACCGCCCCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF138,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000221485	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000221485	Transcript	.	.	ENSG00000104888	16704	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VGLU1_HUMAN	SLC17A7	HGNC	B4DFR9_HUMAN,A8K0Q7_HUMAN	.	UPI000006F6B8	deletion	SLC17A7,frameshift_variant,p.Ala206ArgfsTer68,ENST00000543531,;SLC17A7,frameshift_variant,p.Ala218ArgfsTer68,ENST00000221485,;SLC17A7,frameshift_variant,p.Ala151ArgfsTer68,ENST00000600601,;SLC17A7,frameshift_variant,p.Ala26ArgfsTer68,ENST00000596689,;SLC17A7,non_coding_transcript_exon_variant,,ENST00000598018,;SLC17A7,non_coding_transcript_exon_variant,,ENST00000600672,;	824	189	491	SUCCESS
SHANK1	50944	.	GRCh37	19	51170365	51170365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	25	47	0	ENST00000293441.1:c.4852G>T	p.Asp1618Tyr	p.D1618Y	ENST00000293441	NM_016148.2	1618	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS12799.1	4852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTCCAGGG	NONE	.	.	hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,missense_variant,p.Asp1626Tyr,ENST00000391814,;SHANK1,missense_variant,p.Asp1005Tyr,ENST00000391813,;SHANK1,missense_variant,p.Asp1609Tyr,ENST00000359082,;SHANK1,missense_variant,p.Asp1618Tyr,ENST00000293441,;SYT3,intron_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,upstream_gene_variant,,ENST00000468654,;	4871	47	100	SUCCESS
KLK6	5653	.	GRCh37	19	51462563	51462563	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1485515531	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	38	115	0	ENST00000310157.2:c.592G>T	p.Gly198Trp	p.G198W	ENST00000310157	NM_002774.3	198	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS12811.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCAGAAT	BUFFER|p.P200L|c.599C>T|5	.	.	Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_patterns:PS00135,hmmpanther:PTHR24271:SF19,hmmpanther:PTHR24271,PROSITE_profiles:PS50240	.	.	ENSP00000366047	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000376851	Transcript	.	.	ENSG00000167755	6367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KLK6_HUMAN	KLK6	HGNC	.	.	UPI000004CA06	SNV	KLK6,missense_variant,p.Gly198Trp,ENST00000310157,;KLK6,missense_variant,p.Gly91Trp,ENST00000456750,;KLK6,missense_variant,p.Gly198Trp,ENST00000376851,;KLK6,missense_variant,p.Gly198Trp,ENST00000594641,;KLK6,missense_variant,p.Gly91Trp,ENST00000391808,;KLK6,synonymous_variant,p.%3D,ENST00000376853,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,intron_variant,,ENST00000601506,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;KLK6,3_prime_UTR_variant,,ENST00000599690,;KLK6,3_prime_UTR_variant,,ENST00000597379,;KLK6,3_prime_UTR_variant,,ENST00000599881,;	1032	115	180	SUCCESS
CD33	945	.	GRCh37	19	51729149	51729149	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	48	0	ENST00000262262.4:c.509A>G	p.Glu170Gly	p.E170G	ENST00000262262	NM_001772.3	170	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33084.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGAGCAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000262262	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000262262	Transcript	.	.	ENSG00000105383	1659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	CD33_HUMAN	CD33	HGNC	Q546G0_HUMAN	.	UPI000013D285	SNV	CD33,missense_variant,p.Glu170Gly,ENST00000262262,;CD33,missense_variant,p.Glu43Gly,ENST00000436584,;CD33,missense_variant,p.Glu170Gly,ENST00000391796,;CD33,missense_variant,p.Glu43Gly,ENST00000421133,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;	530	48	92	SUCCESS
BIRC8	112401	.	GRCh37	19	53794479	53794479	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	67	122	0	ENST00000426466.1:c.-852G>A		p.*284*	ENST00000426466	NM_033341.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12863.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGCGGAGG	NONE	.	.	.	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,5_prime_UTR_variant,,ENST00000426466,;	397	122	257	SUCCESS
ZNF845	91664	.	GRCh37	19	53855788	53855788	+	synonymous_variant	Silent	SNP	A	A	G	rs778572481	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	58	85	0	ENST00000458035.1:c.1860A>G	p.Ser620=	p.S620=	ENST00000458035	NM_138374.1	620	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS46170.1	1860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCATACCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50157	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	rs778572481	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,synonymous_variant,p.%3D,ENST00000595091,;ZNF845,synonymous_variant,p.%3D,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	1977	85	132	SUCCESS
CDC42EP5	148170	.	GRCh37	19	54976410	54976410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	22	0	ENST00000301200.2:c.322G>T	p.Asp108Tyr	p.D108Y	ENST00000301200	NM_145057.2	108	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS12896.1	322	MUTECT|MUSE	.	CGCGTCCATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15344,Pfam_domain:PF14957	.	.	ENSP00000301200	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301200	Transcript	.	.	ENSG00000167617	17408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.829)	.	deleterious(0)	.	BORG3_HUMAN	CDC42EP5	HGNC	.	.	UPI000013E6E4	SNV	CDC42EP5,missense_variant,p.Asp108Tyr,ENST00000301200,;LENG8,downstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000326764,;LENG8,downstream_gene_variant,,ENST00000376526,;LENG9,upstream_gene_variant,,ENST00000333834,;LENG8,downstream_gene_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000431846,;	664	22	24	SUCCESS
PPP6R1	22870	.	GRCh37	19	55756527	55756527	+	synonymous_variant	Silent	SNP	C	C	T	rs1352805877	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	55	0	ENST00000412770.2:c.579G>A	p.Gln193=	p.Q193=	ENST00000412770	NM_014931.3	193	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS46186.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGCTGGAC	NONE	.	.	hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634,Pfam_domain:PF04499,Superfamily_domains:SSF48371	.	.	ENSP00000414202	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000412770	Transcript	.	.	ENSG00000105063	29195	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP6R1_HUMAN	PPP6R1	HGNC	Q96ID3_HUMAN,K7EM28_HUMAN	.	UPI0000202C6D	SNV	PPP6R1,synonymous_variant,p.%3D,ENST00000412770,;PPP6R1,synonymous_variant,p.%3D,ENST00000587283,;PPP6R1,downstream_gene_variant,,ENST00000592242,;PPP6R1,upstream_gene_variant,,ENST00000591602,;PPP6R1,upstream_gene_variant,,ENST00000591323,;	1146	55	120	SUCCESS
TMEM190	147744	.	GRCh37	19	55888214	55888214	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	68	185	0	ENST00000291934.3:c.-8G>T		p.*3*	ENST00000291934	NM_139172.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAGGTG	NONE	.	.	.	.	.	ENSP00000291934	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000291934	Transcript	.	.	ENSG00000160472	29632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM190_HUMAN	TMEM190	HGNC	.	.	UPI000006F8C2	SNV	TMEM190,5_prime_UTR_variant,,ENST00000291934,;TMEM238,downstream_gene_variant,,ENST00000444469,;CTD-2105E13.15,downstream_gene_variant,,ENST00000595064,;	11	185	317	SUCCESS
SAFB	6294	.	GRCh37	19	5645350	5645350	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	34	70	0	ENST00000292123.5:c.549A>G	p.Ile183Met	p.I183M	ENST00000292123	NM_002967.3	183	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS59339.1	549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATAGAGGA	NONE	.	.	hmmpanther:PTHR15683:SF6,hmmpanther:PTHR15683	.	.	ENSP00000467423	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000588852	Transcript	.	.	ENSG00000160633	10520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.17)	.	SAFB1_HUMAN	SAFB	HGNC	Q68DW3_HUMAN,F5GZU3_HUMAN	.	UPI0000E5BE82	SNV	SAFB,missense_variant,p.Ile183Met,ENST00000588852,;SAFB,missense_variant,p.Ile114Met,ENST00000454510,;SAFB,missense_variant,p.Ile183Met,ENST00000292123,;SAFB,missense_variant,p.Ile26Met,ENST00000538656,;SAFB,missense_variant,p.Ile13Met,ENST00000433404,;SAFB,missense_variant,p.Ile183Met,ENST00000592224,;SAFB,splice_region_variant,,ENST00000586934,;SAFB,missense_variant,p.Arg93Gly,ENST00000589863,;SAFB,splice_region_variant,,ENST00000590485,;SAFB,splice_region_variant,,ENST00000591666,;SAFB,upstream_gene_variant,,ENST00000592396,;SAFB,upstream_gene_variant,,ENST00000592707,;	602	70	127	SUCCESS
ZNF776	284309	.	GRCh37	19	58258218	58258218	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	38	0	ENST00000317178.5:c.-209A>G		p.*70*	ENST00000317178	NM_173632.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12962.2	.	MUTECT|MUSE	.	TTTCCAGTGAG	NONE	.	.	.	.	.	ENSP00000321812	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000317178	Transcript	.	.	ENSG00000152443	26765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN776_HUMAN	ZNF776	HGNC	B2RN90_HUMAN	.	UPI000022AA12	SNV	ZNF776,5_prime_UTR_variant,,ENST00000317178,;ZNF776,5_prime_UTR_variant,,ENST00000431353,;AC003006.7,intron_variant,,ENST00000594684,;ZNF776,upstream_gene_variant,,ENST00000451849,;AC003006.7,splice_acceptor_variant,,ENST00000599221,;ZNF776,non_coding_transcript_exon_variant,,ENST00000473585,;	55	38	73	SUCCESS
FBN3	84467	.	GRCh37	19	8191482	8191482	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	44	0	ENST00000270509.2:c.2424C>T	p.Thr808=	p.T808=	ENST00000270509	NM_032447.3	808	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12196.1	2424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTGGTGCT	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57184,Superfamily_domains:SSF57581	.	.	ENSP00000470498	.	20/64	.	.	.	.	.	.	.	.	.	20/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,synonymous_variant,p.%3D,ENST00000600128,;FBN3,synonymous_variant,p.%3D,ENST00000601739,;FBN3,synonymous_variant,p.%3D,ENST00000270509,;	2839	44	68	SUCCESS
UBE4B	10277	.	GRCh37	1	10195205	10195205	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	53	112	0	ENST00000343090.6:c.2185G>C	p.Ala729Pro	p.A729P	ENST00000343090	NM_001105562.2	729	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS41245.1	2185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGCAACG	NONE	.	.	hmmpanther:PTHR13931:SF13,hmmpanther:PTHR13931,Pfam_domain:PF10408	.	.	ENSP00000343001	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000343090	Transcript	.	.	ENSG00000130939	12500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	tolerated(0.13)	.	UBE4B_HUMAN	UBE4B	HGNC	.	.	UPI0000137944	SNV	UBE4B,missense_variant,p.Ala484Pro,ENST00000377157,;UBE4B,missense_variant,p.Ala184Pro,ENST00000470736,;UBE4B,missense_variant,p.Ala600Pro,ENST00000253251,;UBE4B,missense_variant,p.Ala729Pro,ENST00000343090,;UBE4B,downstream_gene_variant,,ENST00000475795,;UBE4B,non_coding_transcript_exon_variant,,ENST00000466379,;	2260	112	118	SUCCESS
CELSR2	1952	.	GRCh37	1	109793071	109793072	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	129	50	112	0	ENST00000271332.3:c.374dup	p.Gln126ThrfsTer87	p.Q126Tfs*87	ENST00000271332	NM_001408.2	124	tcc/tCcc	0	.	.	.	.	.	C	S/SX	protein_coding	YES	CCDS796.1	370-371	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTTTCCCCA	NONE	.	.	hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026	.	.	ENSP00000271332	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	insertion	CELSR2,frameshift_variant,p.Gln126ThrfsTer87,ENST00000271332,;	431-432	112	179	SUCCESS
CSDE1	7812	.	GRCh37	1	115262274	115262275	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	105	32	92	0	ENST00000438362.2:c.2279_2280insC	p.Asp761ArgfsTer2	p.D761Rfs*2	ENST00000438362	NM_001242891.1	760	gga/ggCa	0	.	.	.	.	.	G	G/GX	protein_coding	YES	CCDS55626.1	2279-2280	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATCTCCTGC	NONE	.	.	Superfamily_domains:SSF50249,SMART_domains:SM00357,Pfam_domain:PF00313,Gene3D:2.40.50.140,hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	.	.	ENSP00000407724	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000438362	Transcript	.	.	ENSG00000009307	29905	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CSDE1	HGNC	Q9UG93_HUMAN,G5E9Q2_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN	.	UPI0000D99B0F	insertion	CSDE1,frameshift_variant,p.Asp730ArgfsTer2,ENST00000369530,;CSDE1,frameshift_variant,p.Asp684ArgfsTer2,ENST00000261443,;CSDE1,frameshift_variant,p.Asp715ArgfsTer2,ENST00000358528,;CSDE1,frameshift_variant,p.Asp684ArgfsTer2,ENST00000339438,;CSDE1,frameshift_variant,p.Asp585ArgfsTer2,ENST00000530886,;CSDE1,frameshift_variant,p.Asp715ArgfsTer2,ENST00000534699,;CSDE1,frameshift_variant,p.Asp761ArgfsTer2,ENST00000438362,;NRAS,upstream_gene_variant,,ENST00000369535,;CSDE1,upstream_gene_variant,,ENST00000483407,;CSDE1,downstream_gene_variant,,ENST00000483030,;CSDE1,downstream_gene_variant,,ENST00000530784,;	2658-2659	92	137	SUCCESS
ADAM30	11085	.	GRCh37	1	120436684	120436684	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	66	160	0	ENST00000369400.1:c.2276A>G	p.Gln759Arg	p.Q759R	ENST00000369400	NM_021794.3	759	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS907.1	2276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGTCCA	NONE	.	.	.	.	.	ENSP00000358407	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369400	Transcript	.	.	ENSG00000134249	208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.37)	.	ADA30_HUMAN	ADAM30	HGNC	.	.	UPI000004C638	SNV	ADAM30,missense_variant,p.Gln759Arg,ENST00000369400,;	2435	160	150	SUCCESS
PGLYRP4	57115	.	GRCh37	1	153315636	153315636	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	168	63	167	0	ENST00000359650.5:c.402T>A	p.Asn134Lys	p.N134K	ENST00000359650	NM_020393.2	134	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS30871.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATATTCCA	NONE	.	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000352672	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000359650	Transcript	.	.	ENSG00000163218	30015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.15)	.	PGRP4_HUMAN	PGLYRP4	HGNC	.	.	UPI000013F78A	SNV	PGLYRP4,missense_variant,p.Asn130Lys,ENST00000368739,;PGLYRP4,missense_variant,p.Asn134Lys,ENST00000359650,;PGLYRP4,downstream_gene_variant,,ENST00000490266,;	467	167	231	SUCCESS
THBS3	7059	.	GRCh37	1	155171757	155171757	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	18	0	ENST00000368378.3:c.1167C>A	p.Thr389=	p.T389=	ENST00000368378	NM_007112.4	389	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1099.1	1167	MUTECT|MUSE	.	GTGTTGGTGCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179	.	.	ENSP00000357362	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000368378	Transcript	.	.	ENSG00000169231	11787	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSP3_HUMAN	THBS3	HGNC	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN	.	UPI000013776E	SNV	THBS3,synonymous_variant,p.%3D,ENST00000368378,;THBS3,synonymous_variant,p.%3D,ENST00000457183,;THBS3,5_prime_UTR_variant,,ENST00000541576,;THBS3,5_prime_UTR_variant,,ENST00000541990,;RP11-263K19.4,intron_variant,,ENST00000422665,;RP11-263K19.4,intron_variant,,ENST00000430312,;RP11-263K19.4,intron_variant,,ENST00000453136,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;RP11-263K19.4,downstream_gene_variant,,ENST00000454348,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;THBS3,non_coding_transcript_exon_variant,,ENST00000460050,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;THBS3,upstream_gene_variant,,ENST00000465596,;THBS3,synonymous_variant,p.%3D,ENST00000428962,;THBS3,non_coding_transcript_exon_variant,,ENST00000496332,;THBS3,upstream_gene_variant,,ENST00000469769,;	1188	18	52	SUCCESS
ASH1L	55870	.	GRCh37	1	155451459	155451459	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	66	0	ENST00000368346.3:c.1202A>T	p.Asn401Ile	p.N401I	ENST00000368346		401	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS1113.2	1202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTATTAACC	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	deleterious_low_confidence(0)	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Asn401Ile,ENST00000368346,;ASH1L,missense_variant,p.Asn401Ile,ENST00000392403,;ASH1L,3_prime_UTR_variant,,ENST00000548830,;	1681	66	99	SUCCESS
METTL18	92342	.	GRCh37	1	169762137	169762137	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	79	152	0	ENST00000303469.2:c.700A>T	p.Asn234Tyr	p.N234Y	ENST00000303469		234	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS1284.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTTAGCTA	NONE	.	.	hmmpanther:PTHR21095,hmmpanther:PTHR21095:SF0,Gene3D:3.40.50.150,Pfam_domain:PF06325,Superfamily_domains:SSF53335	.	.	ENSP00000307975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310392	Transcript	.	.	ENSG00000171806	28793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MET18_HUMAN	METTL18	HGNC	Q5TI78_HUMAN	.	UPI000006EC5C	SNV	METTL18,missense_variant,p.Asn234Tyr,ENST00000310392,;METTL18,missense_variant,p.Asn234Tyr,ENST00000303469,;C1orf112,upstream_gene_variant,,ENST00000286031,;C1orf112,upstream_gene_variant,,ENST00000456684,;C1orf112,upstream_gene_variant,,ENST00000359326,;METTL18,downstream_gene_variant,,ENST00000454472,;C1orf112,upstream_gene_variant,,ENST00000413811,;C1orf112,intron_variant,,ENST00000498289,;C1orf112,upstream_gene_variant,,ENST00000459772,;C1orf112,upstream_gene_variant,,ENST00000466580,;C1orf112,upstream_gene_variant,,ENST00000496973,;C1orf112,upstream_gene_variant,,ENST00000481744,;C1orf112,upstream_gene_variant,,ENST00000472795,;	1054	152	267	SUCCESS
PRRC2C	23215	.	GRCh37	1	171511016	171511016	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	73	180	0	ENST00000338920.4:c.4405G>A	p.Val1469Ile	p.V1469I	ENST00000338920	NM_015172.3	1469	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1296.2	4405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGTTAAT	NONE	.	.	hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038	.	.	ENSP00000343629	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,missense_variant,p.Val1469Ile,ENST00000338920,;PRRC2C,missense_variant,p.Val1471Ile,ENST00000367742,;PRRC2C,missense_variant,p.Val1469Ile,ENST00000426496,;PRRC2C,missense_variant,p.Val1471Ile,ENST00000392078,;PRRC2C,missense_variant,p.Val17Ile,ENST00000495585,;	4642	180	234	SUCCESS
RASAL2	9462	.	GRCh37	1	178408712	178408712	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	37	80	0	ENST00000462775.1:c.384+2T>C		p.X128_splice	ENST00000462775	NM_004841.3	128		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1321.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTAAAAA	NONE	.	.	.	.	.	ENSP00000356621	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	HIGH	6/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,splice_donor_variant,,ENST00000462775,;RASAL2,splice_donor_variant,,ENST00000367649,;RASAL2,splice_donor_variant,,ENST00000448150,;	.	80	143	SUCCESS
ABL2	27	.	GRCh37	1	179112161	179112161	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	41	116	0	ENST00000502732.1:c.158-9652C>A		p.*53*	ENST00000502732	NM_001168237.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30947.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGAACTG	NONE	.	.	.	.	.	ENSP00000427562	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000502732	Transcript	.	.	ENSG00000143322	77	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABL2_HUMAN	ABL2	HGNC	.	.	UPI0000125140	SNV	ABL2,missense_variant,p.Leu7Ile,ENST00000344730,;ABL2,missense_variant,p.Leu7Ile,ENST00000512653,;ABL2,missense_variant,p.Leu7Ile,ENST00000504405,;ABL2,missense_variant,p.Leu7Ile,ENST00000408940,;ABL2,intron_variant,,ENST00000507173,;ABL2,intron_variant,,ENST00000511413,;ABL2,intron_variant,,ENST00000392043,;ABL2,intron_variant,,ENST00000502732,;ABL2,intron_variant,,ENST00000367623,;ABL2,non_coding_transcript_exon_variant,,ENST00000504324,;ABL2,non_coding_transcript_exon_variant,,ENST00000508127,;ABL2,non_coding_transcript_exon_variant,,ENST00000509520,;	.	116	155	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200819254	200819254	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	154	200	0	ENST00000236925.4:c.3390T>C	p.Asp1130=	p.D1130=	ENST00000236925		1130	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS1404.1	3357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATTTGAA	NONE	.	.	hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595	.	.	ENSP00000351684	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	SNV	CAMSAP2,synonymous_variant,p.%3D,ENST00000413307,;CAMSAP2,synonymous_variant,p.%3D,ENST00000358823,;CAMSAP2,synonymous_variant,p.%3D,ENST00000236925,;CAMSAP2,intron_variant,,ENST00000447701,;	3627	200	285	SUCCESS
PTPN7	5778	.	GRCh37	1	202119444	202119444	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	104	0	ENST00000495688.1:c.984A>C	p.Leu328=	p.L328=	ENST00000495688		328	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS1423.2	1299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTAGCCG	NONE	.	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134:SF39,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000309116	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000309017	Transcript	.	.	ENSG00000143851	9659	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PTPN7	HGNC	E9PE54_HUMAN,E7EUM0_HUMAN,C9JBA9_HUMAN,B4DX06_HUMAN,B4DDG6_HUMAN	.	UPI00004701F6	SNV	PTPN7,synonymous_variant,p.%3D,ENST00000477554,;PTPN7,synonymous_variant,p.%3D,ENST00000543735,;PTPN7,synonymous_variant,p.%3D,ENST00000367279,;PTPN7,synonymous_variant,p.%3D,ENST00000309017,;PTPN7,synonymous_variant,p.%3D,ENST00000544762,;PTPN7,synonymous_variant,p.%3D,ENST00000308986,;PTPN7,downstream_gene_variant,,ENST00000477625,;PTPN7,downstream_gene_variant,,ENST00000476061,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,downstream_gene_variant,,ENST00000479092,;PTPN7,synonymous_variant,p.%3D,ENST00000495688,;PTPN7,3_prime_UTR_variant,,ENST00000496197,;PTPN7,3_prime_UTR_variant,,ENST00000480836,;PTPN7,3_prime_UTR_variant,,ENST00000462815,;	2073	104	99	SUCCESS
LGR6	59352	.	GRCh37	1	202163198	202163198	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1290758808	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	14	0	ENST00000367278.3:c.81G>T	p.Gln27His	p.Q27H	ENST00000367278	NM_001017403.1	27	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS30971.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGCCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12	.	.	ENSP00000356247	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,missense_variant,p.Gln27His,ENST00000367278,;snoU13,downstream_gene_variant,,ENST00000458934,;PTPRVP,downstream_gene_variant,,ENST00000482597,;PTPRVP,downstream_gene_variant,,ENST00000490575,;PTPRVP,downstream_gene_variant,,ENST00000490225,;	170	14	26	SUCCESS
HSD11B1	3290	.	GRCh37	1	209879238	209879239	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GGAGCCCATGTGGT	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	110	15	122	0	ENST00000367027.3:c.174_187dup	p.Val63GlufsTer6	p.V63Efs*6	ENST00000367027	NM_005525.3	57	-/GGAGCCCATGTGGT	0	.	.	.	.	.	GGAGCCCATGTGGT	-/GAHVX	protein_coding	YES	CCDS1489.1	171-172	INDELOCATOR|VARSCANI	.	AAGATGGGAGC	NONE	.	.	hmmpanther:PTHR24322:SF249,hmmpanther:PTHR24322,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000355995	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000367028	Transcript	.	.	ENSG00000117594	5208	16	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHI1_HUMAN	HSD11B1	HGNC	.	.	UPI000004C796	insertion	HSD11B1,frameshift_variant,p.Val63GlufsTer6,ENST00000367027,;HSD11B1,frameshift_variant,p.Val63GlufsTer6,ENST00000261465,;HSD11B1,frameshift_variant,p.Val63GlufsTer6,ENST00000367028,;RP1-28O10.1,intron_variant,,ENST00000441672,;	340-341	122	125	SUCCESS
SYT14	255928	.	GRCh37	1	210334239	210334239	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	48	149	0	ENST00000472886.1:c.1520A>G	p.Asn507Ser	p.N507S	ENST00000472886		507	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS53469.1	1712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATAACAAAC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF209,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000389039	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000422431	Transcript	.	.	ENSG00000143469	23143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.16)	.	SYT14_HUMAN	SYT14	HGNC	A1L3Y1_HUMAN	.	UPI0001639EBD	SNV	SYT14,missense_variant,p.Asn507Ser,ENST00000472886,;SYT14,missense_variant,p.Asn533Ser,ENST00000534859,;SYT14,missense_variant,p.Asn571Ser,ENST00000422431,;SYT14,missense_variant,p.Asn469Ser,ENST00000367015,;SYT14,missense_variant,p.Asn526Ser,ENST00000367019,;SYT14,missense_variant,p.Asn469Ser,ENST00000537238,;SYT14,3_prime_UTR_variant,,ENST00000399639,;SYT14,non_coding_transcript_exon_variant,,ENST00000469604,;SYT14,non_coding_transcript_exon_variant,,ENST00000271745,;	1770	149	171	SUCCESS
SPATA17	128153	.	GRCh37	1	217822303	217822303	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751177918	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	90	83	0	ENST00000366933.4:c.148G>A	p.Ala50Thr	p.A50T	ENST00000366933	NM_138796.2	50	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS1519.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGGGCATAT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00015,Pfam_domain:PF00612,Gene3D:1.20.5.190,hmmpanther:PTHR22706,PROSITE_profiles:PS50096	.	.	ENSP00000355900	.	2/11	.	.	.	.	.	.	.	.	rs751177918	2/11	PASS	ENST00000366933	Transcript	.	.	ENSG00000162814	25184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	deleterious(0.04)	.	SPT17_HUMAN	SPATA17	HGNC	R4GN71_HUMAN	.	UPI00000717C2	SNV	SPATA17,missense_variant,p.Ala50Thr,ENST00000366933,;SPATA17,missense_variant,p.Ala50Thr,ENST00000470448,;	203	83	161	SUCCESS
EPHA8	2046	.	GRCh37	1	22902776	22902776	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	98	243	0	ENST00000166244.3:c.226A>C	p.Met76Leu	p.M76L	ENST00000166244	NM_020526.3	76	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS225.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCATGAGC	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS51550	.	.	ENSP00000166244	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	tolerated(0.14)	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,missense_variant,p.Met76Leu,ENST00000374644,;EPHA8,missense_variant,p.Met76Leu,ENST00000538803,;EPHA8,missense_variant,p.Met76Leu,ENST00000166244,;	298	243	248	SUCCESS
EPHA8	2046	.	GRCh37	1	22902805	22902806	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	157	76	228	0	ENST00000166244.3:c.256_257del	p.Thr86GlufsTer14	p.T86Efs*14	ENST00000166244	NM_020526.3	85	cgCAcg/cgcg	0	.	.	.	.	.	-	RT/RX	protein_coding	YES	CCDS225.1	255-256	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGCGCACGAGC	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS51550	.	.	ENSP00000166244	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	deletion	EPHA8,frameshift_variant,p.Thr86GlufsTer14,ENST00000374644,;EPHA8,frameshift_variant,p.Thr86GlufsTer14,ENST00000538803,;EPHA8,frameshift_variant,p.Thr86GlufsTer14,ENST00000166244,;	327-328	228	233	SUCCESS
HMGCL	3155	.	GRCh37	1	24147006	24147006	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	151	0	ENST00000374490.3:c.138T>G	p.Asn46Lys	p.N46K	ENST00000374490	NM_000191.2	46	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS243.1	138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCATTTTG	NONE	.	.	Superfamily_domains:SSF51569,Pfam_domain:PF00682,Gene3D:3.20.20.70,hmmpanther:PTHR10277:SF35,hmmpanther:PTHR10277,PROSITE_profiles:PS50991	.	.	ENSP00000363614	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000374490	Transcript	.	.	ENSG00000117305	5005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.569)	.	deleterious(0.01)	.	HMGCL_HUMAN	HMGCL	HGNC	B1AK13_HUMAN	.	UPI000012CA36	SNV	HMGCL,missense_variant,p.Asn21Lys,ENST00000374483,;HMGCL,missense_variant,p.Asn46Lys,ENST00000436439,;HMGCL,missense_variant,p.Asn46Lys,ENST00000374490,;HMGCL,missense_variant,p.Asn42Lys,ENST00000235958,;HMGCL,non_coding_transcript_exon_variant,,ENST00000509389,;HMGCL,upstream_gene_variant,,ENST00000479458,;HMGCL,upstream_gene_variant,,ENST00000498698,;HMGCL,3_prime_UTR_variant,,ENST00000374487,;HMGCL,non_coding_transcript_exon_variant,,ENST00000513148,;	182	151	112	SUCCESS
HMGCL	3155	.	GRCh37	1	24147010	24147010	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	10	150	0	ENST00000374490.3:c.134A>T	p.Gln45Leu	p.Q45L	ENST00000374490	NM_000191.2	45	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS243.1	134	RADIA|MUTECT|MUSE	.	CATTTTGTAGT	NONE	.	.	Superfamily_domains:SSF51569,Pfam_domain:PF00682,Gene3D:3.20.20.70,hmmpanther:PTHR10277:SF35,hmmpanther:PTHR10277,PROSITE_profiles:PS50991	.	.	ENSP00000363614	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000374490	Transcript	.	.	ENSG00000117305	5005	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.564)	.	deleterious(0)	.	HMGCL_HUMAN	HMGCL	HGNC	B1AK13_HUMAN	.	UPI000012CA36	SNV	HMGCL,missense_variant,p.Gln20Leu,ENST00000374483,;HMGCL,missense_variant,p.Gln45Leu,ENST00000436439,;HMGCL,missense_variant,p.Gln45Leu,ENST00000374490,;HMGCL,missense_variant,p.Gln41Leu,ENST00000235958,;HMGCL,non_coding_transcript_exon_variant,,ENST00000509389,;HMGCL,upstream_gene_variant,,ENST00000479458,;HMGCL,upstream_gene_variant,,ENST00000498698,;HMGCL,3_prime_UTR_variant,,ENST00000374487,;HMGCL,non_coding_transcript_exon_variant,,ENST00000513148,;	178	150	114	SUCCESS
AHCTF1	25909	.	GRCh37	1	247027263	247027263	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	262	26	174	0	ENST00000326225.3:c.3530C>A	p.Ser1177Ter	p.S1177*	ENST00000326225	NM_015446.4	1177	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS1629.2	3530	MUTECT|MUSE|VARSCANS	.	ATTCTGAAGCC	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,stop_gained,p.Ser1168Ter,ENST00000391829,;AHCTF1,stop_gained,p.Ser1203Ter,ENST00000366508,;AHCTF1,stop_gained,p.Ser1177Ter,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000477526,;	3627	174	288	SUCCESS
OR2G2	81470	.	GRCh37	1	247751681	247751681	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757678888	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	47	107	0	ENST00000320065.1:c.20C>A	p.Thr7Asn	p.T7N	ENST00000320065	NM_001001915.1	7	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS31092.1	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACCAATG	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326349	.	1/1	.	.	.	.	.	.	.	.	rs757678888	1/1	PASS	ENST00000320065	Transcript	.	.	ENSG00000177489	15007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.3)	.	OR2G2_HUMAN	OR2G2	HGNC	.	.	UPI0000061EB9	SNV	OR2G2,missense_variant,p.Thr7Asn,ENST00000320065,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	20	107	159	SUCCESS
AHDC1	27245	.	GRCh37	1	27874319	27874361	+	frameshift_variant	Frame_Shift_Del	DEL	GTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCG	GTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCG	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	GTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCG	GTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	82	0	ENST00000247087.5:c.4266_4308del	p.Cys1422TrpfsTer9	p.C1422Wfs*9	ENST00000247087		1422	tgCGAGCCCCTCAAGCATGGACTCCAGGGGGCCAGCCTGGGCCAC/tg	0	.	.	.	.	.	-	CEPLKHGLQGASLGH/X	protein_coding	YES	CCDS30652.1	4266-4308	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	deletion	AHDC1,frameshift_variant,p.Cys1422TrpfsTer9,ENST00000247087,;AHDC1,frameshift_variant,p.Cys1422TrpfsTer9,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	5235-5277	82	68	SUCCESS
RNF19B	127544	.	GRCh37	1	33430200	33430200	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	24	0	ENST00000373456.7:c.87G>A	p.Arg29=	p.R29=	ENST00000373456	NM_153341.2	29	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS372.2	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCGCCGGCC	NONE	.	.	hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF109	.	.	ENSP00000362555	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000373456	Transcript	.	.	ENSG00000116514	26886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN19B_HUMAN	RNF19B	HGNC	.	.	UPI00015D777B	SNV	RNF19B,synonymous_variant,p.%3D,ENST00000373456,;RNF19B,synonymous_variant,p.%3D,ENST00000235150,;RNF19B,synonymous_variant,p.%3D,ENST00000356990,;	87	24	32	SUCCESS
GJB5	2709	.	GRCh37	1	35223441	35223441	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	81	0	ENST00000338513.1:c.510C>G	p.Pro170=	p.P170=	ENST00000338513	NM_005268.3	170	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS382.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCAATAT	NONE	.	.	hmmpanther:PTHR11984:SF28,hmmpanther:PTHR11984,PROSITE_patterns:PS00408,Gene3D:2zw3A00,Pfam_domain:PF10582,SMART_domains:SM01089,Prints_domain:PR00206	.	.	ENSP00000340811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000338513	Transcript	.	.	ENSG00000189280	4287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB5_HUMAN	GJB5	HGNC	.	.	UPI0000051E62	SNV	GJB5,synonymous_variant,p.%3D,ENST00000338513,;GJB4,upstream_gene_variant,,ENST00000339480,;RP1-34M23.5,downstream_gene_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	683	81	56	SUCCESS
TPRG1L	127262	.	GRCh37	1	3542011	3542011	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	64	185	0	ENST00000378344.2:c.225G>A	p.Val75=	p.V75=	ENST00000378344	NM_182752.3	75	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTGGAGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31108:SF3,hmmpanther:PTHR31108,Pfam_domain:PF12456	.	.	ENSP00000367595	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000378344	Transcript	.	.	ENSG00000158109	27007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPRGL_HUMAN	TPRG1L	HGNC	.	.	UPI000014067B	SNV	TPRG1L,synonymous_variant,p.%3D,ENST00000344579,;TPRG1L,synonymous_variant,p.%3D,ENST00000378344,;RP11-46F15.2,upstream_gene_variant,,ENST00000435049,;	296	185	155	SUCCESS
HIVEP3	59269	.	GRCh37	1	41976245	41976245	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	111	0	ENST00000247584.5:c.7098A>T	p.Pro2366=	p.P2366=	ENST00000247584		2366	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS463.1	7098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCTGGGAA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,synonymous_variant,p.%3D,ENST00000429157,;HIVEP3,synonymous_variant,p.%3D,ENST00000372584,;HIVEP3,synonymous_variant,p.%3D,ENST00000247584,;HIVEP3,synonymous_variant,p.%3D,ENST00000372583,;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	7984	111	74	SUCCESS
MAST2	23139	.	GRCh37	1	46269721	46269721	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	65	135	0	ENST00000361297.2:c.154G>A	p.Ala52Thr	p.A52T	ENST00000361297	NM_015112.2	52	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41326.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCGGGG	NONE	.	.	hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356	.	.	ENSP00000354671	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000361297	Transcript	.	.	ENSG00000086015	19035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.18)	.	MAST2_HUMAN	MAST2	HGNC	Q9NT11_HUMAN	.	UPI0000458AEB	SNV	MAST2,missense_variant,p.Ala52Thr,ENST00000361297,;MAST2,missense_variant,p.Ala52Thr,ENST00000372009,;MAST2,intron_variant,,ENST00000470809,;	437	135	176	SUCCESS
ZFYVE9	9372	.	GRCh37	1	52705044	52705044	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	64	136	0	ENST00000287727.3:c.1955A>T	p.Tyr652Phe	p.Y652F	ENST00000287727	NM_004799.3	652	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS563.1	1955	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTATGAGG	NONE	.	.	PIRSF_domain:PIRSF037289	.	.	ENSP00000287727	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000287727	Transcript	.	.	ENSG00000157077	6775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.14)	.	ZFYV9_HUMAN	ZFYVE9	HGNC	.	.	UPI0000001620	SNV	ZFYVE9,missense_variant,p.Tyr652Phe,ENST00000371591,;ZFYVE9,missense_variant,p.Tyr652Phe,ENST00000357206,;ZFYVE9,missense_variant,p.Tyr652Phe,ENST00000287727,;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	2127	136	165	SUCCESS
GLIS1	148979	.	GRCh37	1	53995579	53995579	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	55	0	ENST00000312233.2:c.842T>G	p.Ile281Ser	p.I281S	ENST00000312233	NM_147193.2	281	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS582.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGATCTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000309653	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000312233	Transcript	.	.	ENSG00000174332	29525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	GLIS1_HUMAN	GLIS1	HGNC	.	.	UPI000013F293	SNV	GLIS1,missense_variant,p.Ile281Ser,ENST00000312233,;	1409	55	45	SUCCESS
CHD5	26038	.	GRCh37	1	6209325	6209325	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	65	0	ENST00000262450.3:c.1142A>C	p.Lys381Thr	p.K381T	ENST00000262450	NM_015557.2	381	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS57.1	1142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACTTGCCC	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000262450	.	8/42	.	.	.	.	.	.	.	.	.	8/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	tolerated(0.11)	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,missense_variant,p.Lys381Thr,ENST00000262450,;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Lys381Thr,ENST00000496404,;	1242	65	81	SUCCESS
DNAJC6	9829	.	GRCh37	1	65855003	65855003	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1375384108	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	104	231	1	ENST00000395325.3:c.1087G>A	p.Val363Ile	p.V363I	ENST00000395325	NM_014787.3	363	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS58004.1	1258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGTAGAA	NONE	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,Pfam_domain:PF10409,Superfamily_domains:SSF49562	.	.	ENSP00000360108	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.34)	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,missense_variant,p.Val420Ile,ENST00000371069,;DNAJC6,missense_variant,p.Val363Ile,ENST00000395325,;DNAJC6,missense_variant,p.Val350Ile,ENST00000263441,;DNAJC6,missense_variant,p.Val394Ile,ENST00000494710,;DNAJC6,downstream_gene_variant,,ENST00000498720,;	1459	232	221	SUCCESS
SLC35D1	23169	.	GRCh37	1	67518480	67518480	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	55	122	0	ENST00000235345.5:c.298G>A	p.Asp100Asn	p.D100N	ENST00000235345	NM_015139.2	100	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS636.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTCAGGAA	NONE	.	.	hmmpanther:PTHR11132:SF24,hmmpanther:PTHR11132	.	.	ENSP00000235345	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000235345	Transcript	.	.	ENSG00000116704	20800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	tolerated(0.13)	.	S35D1_HUMAN	SLC35D1	HGNC	.	.	UPI0000137AF8	SNV	SLC35D1,missense_variant,p.Asp100Asn,ENST00000235345,;SLC35D1,missense_variant,p.Asp21Asn,ENST00000506472,;	384	122	134	SUCCESS
ACADM	34	.	GRCh37	1	76216231	76216231	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	13	85	0	ENST00000370841.4:c.945G>C	p.Glu315Asp	p.E315D	ENST00000370841	NM_000016.4	315	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS44165.1	957	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAGGTAAT	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF240,Gene3D:1.20.140.10,Pfam_domain:PF00441,Superfamily_domains:SSF47203	.	.	ENSP00000409612	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000420607	Transcript	.	.	ENSG00000117054	89	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.19)	.	ACADM_HUMAN	ACADM	HGNC	B4DVB1_HUMAN,B4DJE7_HUMAN	.	UPI0000EE3287	SNV	ACADM,missense_variant,p.Glu315Asp,ENST00000370841,;ACADM,missense_variant,p.Glu279Asp,ENST00000541113,;ACADM,missense_variant,p.Glu348Asp,ENST00000370834,;ACADM,missense_variant,p.Glu319Asp,ENST00000420607,;ACADM,missense_variant,p.Glu126Asp,ENST00000543667,;ACADM,splice_region_variant,,ENST00000481374,;ACADM,missense_variant,p.Glu53Asp,ENST00000528016,;ACADM,splice_region_variant,,ENST00000526129,;ACADM,splice_region_variant,,ENST00000532207,;ACADM,splice_region_variant,,ENST00000526196,;ACADM,splice_region_variant,,ENST00000525808,;ACADM,splice_region_variant,,ENST00000534334,;ACADM,splice_region_variant,,ENST00000529059,;ACADM,downstream_gene_variant,,ENST00000532509,;ACADM,downstream_gene_variant,,ENST00000526930,;ACADM,downstream_gene_variant,,ENST00000530953,;	965	85	120	SUCCESS
BPIFB4	149954	.	GRCh37	20	31671301	31671301	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	53	112	0	ENST00000375483.3:c.298G>T	p.Gly100Trp	p.G100W	ENST00000375483	NM_182519.2	100	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS13213.2	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGGGGC	NONE	.	.	.	.	.	ENSP00000364632	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000375483	Transcript	.	.	ENSG00000186191	16179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	BPIB4_HUMAN	BPIFB4	HGNC	.	.	UPI0000206190	SNV	BPIFB4,missense_variant,p.Gly100Trp,ENST00000375483,;BPIFB4,intron_variant,,ENST00000445356,;	298	112	119	SUCCESS
CHD6	84181	.	GRCh37	20	40127986	40127986	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	71	0	ENST00000373233.3:c.864A>G	p.Glu288=	p.E288=	ENST00000373233	NM_032221.4	288	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS13317.1	864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTTCTGG	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589,Gene3D:2.40.50.40,Superfamily_domains:SSF54160	.	.	ENSP00000362330	.	6/37	.	.	.	.	.	.	.	.	.	6/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,synonymous_variant,p.%3D,ENST00000373233,;CHD6,synonymous_variant,p.%3D,ENST00000309279,;CHD6,synonymous_variant,p.%3D,ENST00000373222,;CHD6,upstream_gene_variant,,ENST00000440697,;CHD6,non_coding_transcript_exon_variant,,ENST00000470470,;	1042	71	58	SUCCESS
PCK1	5105	.	GRCh37	20	56140173	56140191	+	protein_altering_variant,splice_region_variant	In_Frame_Del	DEL	GCGGCTGCAGAACATAAAG	GCGGCTGCAGAACATAAAG	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	GCGGCTGCAGAACATAAAG	GCGGCTGCAGAACATAAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	123	42	212	0	ENST00000319441.4:c.1396_1414delinsT	p.Ala466_Gly472delinsCys	p.A466_G472delinsC	ENST00000319441	NM_002591.3	466	GCGGCTGCAGAACATAAAGgc/Tgc	0	.	.	.	.	.	T	AAAEHKG/C	protein_coding	YES	CCDS13460.1	1396-1414	INDELOCATOR*|PINDEL	.	GCCACAGCGGCTGCAGAACATAAAGGTAAA	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.90.228.20,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795	.	.	ENSP00000319814	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	substitution	PCK1,splice_region_variant,,ENST00000535860,;PCK1,splice_region_variant,p.Ala466_Gly472delinsCys,ENST00000319441,;PCK1,splice_region_variant,p.Ala149_Gly155delinsCys,ENST00000543666,;PCK1,splice_region_variant,,ENST00000467047,;PCK1,splice_region_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	1560-1578	212	165	SUCCESS
ANKRD20A11P	391267	.	GRCh37	21	15352195	15352195	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	50	0	ENST00000451663.1:n.38G>A		p.*13*	ENST00000451663				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCCTGT	NONE	.	.	.	.	.	.	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000451663	Transcript	.	.	ENSG00000215559	42024	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKRD20A11P	HGNC	.	.	.	SNV	ANKRD20A11P,non_coding_transcript_exon_variant,,ENST00000344693,;ANKRD20A11P,non_coding_transcript_exon_variant,,ENST00000451663,;	38	50	46	SUCCESS
MRAP	56246	.	GRCh37	21	33671288	33671288	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	70	0	ENST00000303645.5:c.6C>T	p.Ala2=	p.A2=	ENST00000303645		2	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13613.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCAACGG	NONE	.	.	Pfam_domain:PF15183	.	.	ENSP00000382684	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000399784	Transcript	.	.	ENSG00000170262	1304	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRAP_HUMAN	MRAP	HGNC	.	.	UPI000013E8CC	SNV	MRAP,synonymous_variant,p.%3D,ENST00000399784,;MRAP,synonymous_variant,p.%3D,ENST00000303645,;MRAP,synonymous_variant,p.%3D,ENST00000339944,;MRAP,synonymous_variant,p.%3D,ENST00000399786,;MRAP,intron_variant,,ENST00000497833,;	193	71	68	SUCCESS
DIP2A	23181	.	GRCh37	21	47983839	47983839	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	31	94	0	ENST00000417564.2:c.4160del	p.Gly1387GlufsTer5	p.G1387Efs*5	ENST00000417564		1386	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS46655.1	4158	INDELOCATOR*|VARSCANI*|PINDEL	.	ACACCTGGGAGA	NONE	.	.	hmmpanther:PTHR22754:SF24,hmmpanther:PTHR22754,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000392066	.	35/38	.	.	.	.	.	.	.	.	.	35/38	PASS	ENST00000417564	Transcript	.	.	ENSG00000160305	17217	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DIP2A_HUMAN	DIP2A	HGNC	Q9NSX6_HUMAN,Q96NX2_HUMAN	.	UPI00001B2E47	deletion	DIP2A,frameshift_variant,p.Gly1383GlufsTer5,ENST00000400274,;DIP2A,frameshift_variant,p.Gly1387GlufsTer5,ENST00000417564,;DIP2A,frameshift_variant,p.Gly1388GlufsTer5,ENST00000318711,;DIP2A,non_coding_transcript_exon_variant,,ENST00000479654,;DIP2A,non_coding_transcript_exon_variant,,ENST00000478105,;DIP2A,downstream_gene_variant,,ENST00000481883,;	4179	94	107	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	28	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	28	32	SUCCESS
SULT4A1	25830	.	GRCh37	22	44237756	44237757	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	26	0	ENST00000330884.4:c.225_226del	p.Asp75GlufsTer45	p.D75Efs*45	ENST00000330884	NM_014351.3	75	gaTGag/gaag	0	.	.	.	.	.	-	DE/EX	protein_coding	YES	CCDS14051.1	225-226	INDELOCATOR*|VARSCANI*|PINDEL	.	CGATCTCATCGGG	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF5	.	.	ENSP00000332565	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000330884	Transcript	.	.	ENSG00000130540	14903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ST4A1_HUMAN	SULT4A1	HGNC	B7Z320_HUMAN	.	UPI0000135477	deletion	SULT4A1,frameshift_variant,p.Asp75GlufsTer45,ENST00000249130,;SULT4A1,frameshift_variant,p.Asp75GlufsTer45,ENST00000330884,;SULT4A1,intron_variant,,ENST00000540422,;SULT4A1,frameshift_variant,p.Asp75GlufsTer45,ENST00000422525,;SULT4A1,intron_variant,,ENST00000432404,;SULT4A1,upstream_gene_variant,,ENST00000475131,;	346-347	26	45	SUCCESS
RGPD4	285190	.	GRCh37	2	108475642	108475642	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1249	234	1013	0	ENST00000408999.3:c.1349del	p.Ala450ValfsTer9	p.A450Vfs*9	ENST00000408999	NM_182588.2	450	gCt/gt	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS46381.1	1349	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCTGCTTTAC	NONE	.	.	hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86	.	.	ENSP00000386810	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	deletion	RGPD4,frameshift_variant,p.Ala450ValfsTer9,ENST00000408999,;RGPD4,frameshift_variant,p.Ala450ValfsTer9,ENST00000354986,;	1426	1013	1483	SUCCESS
PDIA6	10130	.	GRCh37	2	10937247	10937247	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	41	113	0	ENST00000272227.3:c.306G>T	p.Lys102Asn	p.K102N	ENST00000272227	NM_005742.2	102	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS1675.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTTAAT	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF38,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01126,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000272227	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000272227	Transcript	.	.	ENSG00000143870	30168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	PDIA6_HUMAN	PDIA6	HGNC	.	.	UPI000013148C	SNV	PDIA6,missense_variant,p.Lys154Asn,ENST00000404371,;PDIA6,missense_variant,p.Lys102Asn,ENST00000272227,;PDIA6,missense_variant,p.Lys99Asn,ENST00000540494,;PDIA6,missense_variant,p.Lys150Asn,ENST00000404824,;PDIA6,missense_variant,p.Lys107Asn,ENST00000381611,;PDIA6,non_coding_transcript_exon_variant,,ENST00000489662,;	454	113	150	SUCCESS
POTEE	445582	.	GRCh37	2	131984418	131984418	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1445448029	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	236	99	288	0	ENST00000356920.5:c.833T>G	p.Leu278Arg	p.L278R	ENST00000356920	NM_001083538.1	278	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS46414.1	833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACTTGGTG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000439189	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious_low_confidence(0)	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,missense_variant,p.Leu278Arg,ENST00000356920,;POTEE,missense_variant,p.Leu288Arg,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;RNU6-127P,upstream_gene_variant,,ENST00000390897,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	927	288	335	SUCCESS
FMNL2	114793	.	GRCh37	2	153192209	153192209	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	138	272	0	ENST00000288670.9:c.92T>A	p.Leu31Gln	p.L31Q	ENST00000288670	NM_052905.3	31	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS46429.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACTGGAGG	NONE	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06371,Superfamily_domains:SSF48371	.	.	ENSP00000288670	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,missense_variant,p.Leu31Gln,ENST00000288670,;	459	272	299	SUCCESS
XIRP2	129446	.	GRCh37	2	168100314	168100314	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	170	381	0	ENST00000409195.1:c.2412G>T	p.Gly804=	p.G804=	ENST00000409195	NM_152381.5	804	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42769.1	2412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGGTGAG	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,PROSITE_profiles:PS51389	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2501	381	377	SUCCESS
XIRP2	129446	.	GRCh37	2	168100315	168100315	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs530786380	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	169	378	0	ENST00000409195.1:c.2413G>T	p.Val805Leu	p.V805L	ENST00000409195	NM_152381.5	805	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS42769.1	2413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGTGAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,PROSITE_profiles:PS51389	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs530786380	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Val583Leu,ENST00000409273,;XIRP2,missense_variant,p.Val805Leu,ENST00000409195,;XIRP2,missense_variant,p.Val805Leu,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	2502	379	373	SUCCESS
TTN	7273	.	GRCh37	2	179638708	179638708	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	97	0	ENST00000591111.1:c.7187A>T	p.Gln2396Leu	p.Q2396L	ENST00000591111		2396	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS59435.1	7187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGCACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	31/363	.	.	.	.	.	.	.	.	.	31/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Gln2396Leu,ENST00000360870,;TTN,missense_variant,p.Gln2350Leu,ENST00000359218,;TTN,missense_variant,p.Gln2396Leu,ENST00000342992,;TTN,missense_variant,p.Gln2350Leu,ENST00000342175,;TTN,missense_variant,p.Gln2396Leu,ENST00000589042,;TTN,missense_variant,p.Gln2396Leu,ENST00000591111,;TTN,missense_variant,p.Gln2350Leu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000584485,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;	7412	97	105	SUCCESS
INO80D	54891	.	GRCh37	2	206892945	206892945	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	96	1	ENST00000403263.1:c.1188G>A	p.Lys396=	p.K396=	ENST00000403263	NM_017759.4	396	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS46500.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTTTTG	NONE	.	.	hmmpanther:PTHR16198	.	.	ENSP00000384198	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000403263	Transcript	.	.	ENSG00000114933	25997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IN80D_HUMAN	INO80D	HGNC	C9JLZ4_HUMAN,C9JLV2_HUMAN	.	UPI0000EE35FC	SNV	INO80D,synonymous_variant,p.%3D,ENST00000403263,;INO80D,synonymous_variant,p.%3D,ENST00000424117,;Y_RNA,downstream_gene_variant,,ENST00000384656,;	1593	97	100	SUCCESS
APOB	338	.	GRCh37	2	21266885	21266885	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	31	0	ENST00000233242.1:c.-68C>G		p.*23*	ENST00000233242	NM_000384.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1703.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGCGGGC	NONE	.	.	.	.	.	ENSP00000233242	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,5_prime_UTR_variant,,ENST00000233242,;APOB,upstream_gene_variant,,ENST00000399256,;	61	31	54	SUCCESS
FN1	2335	.	GRCh37	2	216243896	216243896	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755581474	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	27	143	0	ENST00000359671.1:c.5306A>T	p.Asn1769Ile	p.N1769I	ENST00000359671		1769	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS42814.1	5579	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGTTGATT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	34/46	.	.	.	.	.	.	.	.	rs755581474	34/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.1)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Asn1770Ile,ENST00000432072,;FN1,missense_variant,p.Asn1679Ile,ENST00000443816,;FN1,missense_variant,p.Asn1769Ile,ENST00000345488,;FN1,missense_variant,p.Asn1860Ile,ENST00000354785,;FN1,missense_variant,p.Asn1769Ile,ENST00000359671,;FN1,missense_variant,p.Asn1769Ile,ENST00000357009,;FN1,missense_variant,p.Asn1769Ile,ENST00000446046,;FN1,missense_variant,p.Asn1679Ile,ENST00000357867,;FN1,missense_variant,p.Asn1679Ile,ENST00000421182,;FN1,missense_variant,p.Asn1769Ile,ENST00000346544,;FN1,missense_variant,p.Asn1769Ile,ENST00000336916,;FN1,missense_variant,p.Asn486Ile,ENST00000456923,;FN1,missense_variant,p.Asn1860Ile,ENST00000323926,;FN1,missense_variant,p.Asn1679Ile,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000438981,;FN1,downstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000474036,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000460217,;FN1,downstream_gene_variant,,ENST00000480737,;	5949	143	173	SUCCESS
CXCR2P1	3580	.	GRCh37	2	218924184	218924184	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	5	63	0	ENST00000439871.1:n.2197A>T		p.*733*	ENST00000439871				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TGTTCTGCTTT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439871	Transcript	.	.	ENSG00000229754	6028	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CXCR2P1	HGNC	.	.	.	SNV	CXCR2P1,non_coding_transcript_exon_variant,,ENST00000439871,;RUFY4,intron_variant,,ENST00000497857,;RUFY4,intron_variant,,ENST00000465568,;RUFY4,intron_variant,,ENST00000463618,;RUFY4,intron_variant,,ENST00000457754,;CXCR2P1,downstream_gene_variant,,ENST00000443392,;	2197	63	77	SUCCESS
UBXN2A	165324	.	GRCh37	2	24199886	24199886	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs538162030	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	44	0	ENST00000309033.4:c.228C>G	p.Asp76Glu	p.D76E	ENST00000309033	NM_181713.3	76	gaC/gaG	0	.	T:0	.	T:0	.	G	D/E	protein_coding	YES	CCDS1704.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGACGATTT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51399,hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF16,Pfam_domain:PF08059,SMART_domains:SM00553,Superfamily_domains:SSF102848	T:0	.	ENSP00000312107	T:0	4/7	.	.	.	.	.	.	.	.	rs538162030	4/7	PASS	ENST00000309033	Transcript	.	T:0.0058	ENSG00000173960	27265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.82)	T:0.0297	deleterious(0.04)	.	UBX2A_HUMAN	UBXN2A	HGNC	.	.	UPI00001616AE	SNV	UBXN2A,missense_variant,p.Asp76Glu,ENST00000535786,;UBXN2A,missense_variant,p.Asp76Glu,ENST00000309033,;UBXN2A,missense_variant,p.Asp76Glu,ENST00000404924,;UBXN2A,non_coding_transcript_exon_variant,,ENST00000446425,;UBXN2A,non_coding_transcript_exon_variant,,ENST00000479859,;	472	44	99	SUCCESS
NCOA1	8648	.	GRCh37	2	24929659	24929659	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	46	138	0	ENST00000348332.3:c.1320T>C	p.Ser440=	p.S440=	ENST00000348332	NM_147233.2	440	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1712.1	1320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTTTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10684:SF1,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000385216	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000406961	Transcript	.	.	ENSG00000084676	7668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA1_HUMAN	NCOA1	HGNC	.	.	UPI000006E1F7	SNV	NCOA1,synonymous_variant,p.%3D,ENST00000348332,;NCOA1,synonymous_variant,p.%3D,ENST00000407230,;NCOA1,synonymous_variant,p.%3D,ENST00000288599,;NCOA1,synonymous_variant,p.%3D,ENST00000406961,;NCOA1,synonymous_variant,p.%3D,ENST00000395856,;NCOA1,synonymous_variant,p.%3D,ENST00000538539,;NCOA1,synonymous_variant,p.%3D,ENST00000405141,;NCOA1,upstream_gene_variant,,ENST00000486198,;	1972	138	173	SUCCESS
SNX17	9784	.	GRCh37	2	27598432	27598432	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	65	0	ENST00000233575.2:c.834G>A	p.Val278=	p.V278=	ENST00000233575	NM_001267059.1	278	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1750.1	834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGGCTGA	NONE	.	.	hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF16	.	.	ENSP00000233575	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000233575	Transcript	.	.	ENSG00000115234	14979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX17_HUMAN	SNX17	HGNC	B4DTB8_HUMAN,B4DLL7_HUMAN,B4DDM3_HUMAN	.	UPI0000135B4E	SNV	SNX17,synonymous_variant,p.%3D,ENST00000537606,;SNX17,synonymous_variant,p.%3D,ENST00000543024,;SNX17,synonymous_variant,p.%3D,ENST00000542478,;SNX17,synonymous_variant,p.%3D,ENST00000233575,;ZNF513,downstream_gene_variant,,ENST00000436006,;ZNF513,downstream_gene_variant,,ENST00000407879,;ZNF513,downstream_gene_variant,,ENST00000323703,;ZNF513,downstream_gene_variant,,ENST00000491924,;SNX17,3_prime_UTR_variant,,ENST00000453453,;SNX17,3_prime_UTR_variant,,ENST00000440760,;SNX17,3_prime_UTR_variant,,ENST00000427123,;SNX17,non_coding_transcript_exon_variant,,ENST00000493711,;SNX17,downstream_gene_variant,,ENST00000484886,;SNX17,downstream_gene_variant,,ENST00000464279,;SNX17,downstream_gene_variant,,ENST00000494893,;SNX17,downstream_gene_variant,,ENST00000489402,;	1056	65	102	SUCCESS
LTBP1	4052	.	GRCh37	2	33498742	33498742	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	101	0	ENST00000404816.2:c.2637G>A	p.Val879=	p.V879=	ENST00000404816		879	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS33177.2	2637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGAACCC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000386043	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,synonymous_variant,p.%3D,ENST00000407925,;LTBP1,synonymous_variant,p.%3D,ENST00000468091,;LTBP1,synonymous_variant,p.%3D,ENST00000354476,;LTBP1,synonymous_variant,p.%3D,ENST00000418533,;LTBP1,synonymous_variant,p.%3D,ENST00000413303,;LTBP1,synonymous_variant,p.%3D,ENST00000390003,;LTBP1,synonymous_variant,p.%3D,ENST00000404816,;LTBP1,synonymous_variant,p.%3D,ENST00000402934,;LTBP1,synonymous_variant,p.%3D,ENST00000404525,;LTBP1,upstream_gene_variant,,ENST00000415140,;	2990	101	100	SUCCESS
LRPPRC	10128	.	GRCh37	2	44172541	44172541	+	synonymous_variant	Silent	SNP	T	T	C	rs749148902	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	60	0	ENST00000260665.7:c.2226A>G	p.Ser742=	p.S742=	ENST00000260665	NM_133259.3	742	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS33189.1	2226	MUTECT|MUSE|VARSCANS	.	GCAGATGAATC	NONE	byFrequency	.	PROSITE_profiles:PS51375,hmmpanther:PTHR24015:SF0,hmmpanther:PTHR24015	.	.	ENSP00000260665	.	22/38	.	.	.	.	.	.	.	.	rs749148902	22/38	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,synonymous_variant,p.%3D,ENST00000260665,;LRPPRC,downstream_gene_variant,,ENST00000467058,;	2284	60	60	SUCCESS
VPS54	51542	.	GRCh37	2	64126619	64126619	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	55	0	ENST00000272322.4:c.2722G>A	p.Glu908Lys	p.E908K	ENST00000272322		908	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS33208.1	2722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTCTTCTG	NONE	.	.	hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965	.	.	ENSP00000272322	.	21/23	.	.	.	.	.	.	.	.	COSM1232401	21/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.108)	.	tolerated(0.1)	1	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,missense_variant,p.Glu755Lys,ENST00000354504,;VPS54,missense_variant,p.Glu908Lys,ENST00000272322,;VPS54,missense_variant,p.Glu896Lys,ENST00000409558,;VPS54,3_prime_UTR_variant,,ENST00000416400,;	2877	55	63	SUCCESS
RSAD2	91543	.	GRCh37	2	7017965	7017965	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	68	0	ENST00000382040.3:c.34A>T	p.Lys12Ter	p.K12*	ENST00000382040	NM_080657.4	12	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS1656.1	34	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGAAGCTC	NONE	.	.	hmmpanther:PTHR21339	.	.	ENSP00000371471	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000382040	Transcript	.	.	ENSG00000134321	30908	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSAD2_HUMAN	RSAD2	HGNC	.	.	UPI000007242A	SNV	RSAD2,stop_gained,p.Lys12Ter,ENST00000382040,;RSAD2,intron_variant,,ENST00000442639,;RSAD2,upstream_gene_variant,,ENST00000541728,;RSAD2,downstream_gene_variant,,ENST00000474872,;RSAD2,upstream_gene_variant,,ENST00000477834,;RSAD2,upstream_gene_variant,,ENST00000489749,;	170	68	123	SUCCESS
IMMT	10989	.	GRCh37	2	86385747	86385747	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	115	0	ENST00000410111.3:c.1130C>A	p.Thr377Asn	p.T377N	ENST00000410111	NM_001100169.1	377	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS46355.1	1130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGTAATA	NONE	.	.	Pfam_domain:PF09731,hmmpanther:PTHR15415,hmmpanther:PTHR15415:SF7	.	.	ENSP00000387262	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000410111	Transcript	.	.	ENSG00000132305	6047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.01)	.	IMMT_HUMAN	IMMT	HGNC	.	.	UPI0000073828	SNV	IMMT,missense_variant,p.Thr330Asn,ENST00000409051,;IMMT,missense_variant,p.Thr366Asn,ENST00000449247,;IMMT,missense_variant,p.Thr232Asn,ENST00000419070,;IMMT,missense_variant,p.Thr376Asn,ENST00000442664,;IMMT,missense_variant,p.Thr278Asn,ENST00000254636,;IMMT,missense_variant,p.Thr377Asn,ENST00000410111,;Y_RNA,downstream_gene_variant,,ENST00000363371,;IMMT,non_coding_transcript_exon_variant,,ENST00000490238,;IMMT,non_coding_transcript_exon_variant,,ENST00000474969,;IMMT,downstream_gene_variant,,ENST00000409258,;	1518	115	116	SUCCESS
MRPL35	51318	.	GRCh37	2	86434440	86434440	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	54	140	0	ENST00000337109.4:c.368del	p.Val123GlyfsTer22	p.V123Gfs*22	ENST00000337109	NM_016622.3	123	gTg/gg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS1988.1	368	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGGGTGAGGA	NONE	.	.	Superfamily_domains:SSF143034,Pfam_domain:PF01632,hmmpanther:PTHR15909:SF0,hmmpanther:PTHR15909	.	.	ENSP00000338389	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000337109	Transcript	.	.	ENSG00000132313	14489	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RM35_HUMAN	MRPL35	HGNC	.	.	UPI000004A028	deletion	MRPL35,frameshift_variant,p.Val123GlyfsTer22,ENST00000337109,;MRPL35,frameshift_variant,p.Val123GlyfsTer22,ENST00000409180,;MRPL35,frameshift_variant,p.Val123GlyfsTer22,ENST00000254644,;MRPL35,intron_variant,,ENST00000605125,;	402	140	201	SUCCESS
TRMT10C	54931	.	GRCh37	3	101284684	101284684	+	synonymous_variant	Silent	SNP	A	A	G	rs775696131	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	111	0	ENST00000309922.6:c.1059A>G	p.Leu353=	p.L353=	ENST00000309922	NM_017819.3	353	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43122.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTAGATCA	NONE	.	.	PROSITE_profiles:PS51675,hmmpanther:PTHR13563,hmmpanther:PTHR13563:SF5,Pfam_domain:PF01746	.	.	ENSP00000312356	.	2/2	.	.	.	.	.	.	.	.	rs775696131	2/2	PASS	ENST00000309922	Transcript	.	.	ENSG00000174173	26022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRRP1_HUMAN	TRMT10C	HGNC	C9JVB6_HUMAN	.	UPI0000034E2A	SNV	TRMT10C,synonymous_variant,p.%3D,ENST00000309922,;TRMT10C,downstream_gene_variant,,ENST00000495642,;	1213	111	125	SUCCESS
CD200R1L	344807	.	GRCh37	3	112564604	112564604	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs753911527	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	102	0	ENST00000398214.1:c.-33A>T		p.*11*	ENST00000398214	NM_001008784.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43131.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTACTTA	NONE	.	.	.	.	.	ENSP00000381272	.	1/6	.	.	.	.	.	.	.	.	rs753911527	1/6	PASS	ENST00000398214	Transcript	.	.	ENSG00000206531	24665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MO2R2_HUMAN	CD200R1L	HGNC	.	.	UPI000042263C	SNV	CD200R1L,5_prime_UTR_variant,,ENST00000488794,;CD200R1L,5_prime_UTR_variant,,ENST00000448932,;CD200R1L,5_prime_UTR_variant,,ENST00000398214,;CD200R1L,5_prime_UTR_variant,,ENST00000486723,;	194	102	71	SUCCESS
HRH1	3269	.	GRCh37	3	11300884	11300884	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	62	126	0	ENST00000397056.1:c.161G>T	p.Ser54Ile	p.S54I	ENST00000397056	NM_000861.3	54	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS2604.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGAGTGAGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF244,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.1)	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,missense_variant,p.Ser54Ile,ENST00000431010,;HRH1,missense_variant,p.Ser54Ile,ENST00000438284,;HRH1,missense_variant,p.Ser54Ile,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;	352	126	139	SUCCESS
GOLGB1	2804	.	GRCh37	3	121409566	121409566	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	62	0	ENST00000340645.5:c.8630A>T	p.Gln2877Leu	p.Q2877L	ENST00000340645	NM_001256487.1	2877	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS58847.1	8645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCTGTACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.76)	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,missense_variant,p.Gln2882Leu,ENST00000393667,;GOLGB1,missense_variant,p.Gln2877Leu,ENST00000340645,;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	8756	62	58	SUCCESS
UROC1	131669	.	GRCh37	3	126236538	126236538	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	96	196	0	ENST00000290868.2:c.25T>G	p.Ser9Ala	p.S9A	ENST00000290868	NM_144639.2	9	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS54636.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGAGCACA	NONE	.	.	hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3	.	.	ENSP00000373073	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000383579	Transcript	.	.	ENSG00000159650	26444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.59)	.	HUTU_HUMAN	UROC1	HGNC	.	.	UPI0000480109	SNV	UROC1,missense_variant,p.Ser9Ala,ENST00000383579,;UROC1,missense_variant,p.Ser9Ala,ENST00000290868,;	59	196	201	SUCCESS
PODXL2	50512	.	GRCh37	3	127391218	127391218	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	82	0	ENST00000342480.6:c.1713G>T	p.Leu571=	p.L571=	ENST00000342480	NM_015720.3	571	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3044.1	1713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGAACGG	NONE	.	.	Pfam_domain:PF06365,hmmpanther:PTHR15594	.	.	ENSP00000345359	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000342480	Transcript	.	.	ENSG00000114631	17936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDXL2_HUMAN	PODXL2	HGNC	.	.	UPI000006FC4B	SNV	PODXL2,synonymous_variant,p.%3D,ENST00000342480,;ABTB1,upstream_gene_variant,,ENST00000453791,;ABTB1,upstream_gene_variant,,ENST00000468137,;ABTB1,upstream_gene_variant,,ENST00000232744,;ABTB1,upstream_gene_variant,,ENST00000393363,;ABTB1,upstream_gene_variant,,ENST00000466612,;ABTB1,upstream_gene_variant,,ENST00000467179,;ABTB1,upstream_gene_variant,,ENST00000491633,;ABTB1,upstream_gene_variant,,ENST00000479280,;ABTB1,upstream_gene_variant,,ENST00000483857,;ABTB1,upstream_gene_variant,,ENST00000478298,;ABTB1,upstream_gene_variant,,ENST00000475265,;ABTB1,upstream_gene_variant,,ENST00000475042,;ABTB1,upstream_gene_variant,,ENST00000464431,;ABTB1,upstream_gene_variant,,ENST00000474129,;ABTB1,upstream_gene_variant,,ENST00000493365,;ABTB1,upstream_gene_variant,,ENST00000497162,;	1752	82	77	SUCCESS
PPP2R3A	5523	.	GRCh37	3	135721279	135721279	+	synonymous_variant	Silent	SNP	T	T	C	rs35214119	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	56	112	0	ENST00000264977.3:c.939T>C	p.Asn313=	p.N313=	ENST00000264977	NM_001190447.1	313	aaT/aaC	0	G:0	.	.	.	.	C	N	protein_coding	YES	CCDS3087.1	939	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAATATGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3	.	G:0.0003	ENSP00000264977	.	2/14	.	.	.	.	.	.	.	.	rs35214119	2/14	PASS	ENST00000264977	Transcript	.	.	ENSG00000073711	9307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2R3A_HUMAN	PPP2R3A	HGNC	.	.	UPI0000124EAC	SNV	PPP2R3A,synonymous_variant,p.%3D,ENST00000264977,;PPP2R3A,intron_variant,,ENST00000490467,;	1556	112	148	SUCCESS
TBL1XR1	79718	.	GRCh37	3	176750884	176750884	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs755371824	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	106	264	0	ENST00000430069.1:c.1291C>T	p.Arg431Ter	p.R431*	ENST00000430069		431	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46961.1	1291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGGTCTA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22846:SF37,hmmpanther:PTHR22846,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000405574	.	14/16	.	.	.	.	.	.	.	.	rs755371824	14/16	PASS	ENST00000430069	Transcript	.	.	ENSG00000177565	29529	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBL1R_HUMAN	TBL1XR1	HGNC	C9JY82_HUMAN,C9JTW8_HUMAN,C9JLJ1_HUMAN,C9JEC9_HUMAN,C9JCW4_HUMAN,C9JCK0_HUMAN,C9JBN1_HUMAN,C9J903_HUMAN,C9J7E1_HUMAN,C9J3H2_HUMAN,C9IYU9_HUMAN	.	UPI0000136A71	SNV	TBL1XR1,stop_gained,p.Arg431Ter,ENST00000457928,;TBL1XR1,stop_gained,p.Arg431Ter,ENST00000430069,;	1551	264	269	SUCCESS
PIK3CA	5290	.	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913279	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	71	170	0	ENST00000263967.3:c.3140A>T	p.His1047Leu	p.H1047L	ENST00000263967	NM_006218.2	1047	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS43171.1	3140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TGCACATCATG	SITE|p.H1047L|c.3140A>T|236,SITE|p.H1047L|c.3140A>T|45,CODON|p.H1047Y|c.3139C>T|8,CODON|p.H1047Y|c.3139C>T|54,CODON|p.H1047R|c.3140A>G|1687,CODON|p.H1047R|c.3140A>G|242,BUFFER|p.M1043I|c.3129G>T|4,BUFFER|p.M1043I|c.3129G>A|8,BUFFER|p.M1043I|c.3129G>T|45,BUFFER|p.M1043I|c.3129G>A|22,BUFFER|p.M1043I|c.3129G>C|4,BUFFER|p.M1043I|c.3129G>C|6,BUFFER|p.N1044D|c.3130A>G|4,BUFFER|p.N1044Y|c.3130A>T|3,BUFFER|p.N1044S|c.3131A>G|5,BUFFER|p.N1044S|c.3131A>G|3,BUFFER|p.N1044K|c.3132T>G|5,BUFFER|p.N1044K|c.3132T>A|15,BUFFER|p.N1044K|c.3132T>A|7,BUFFER|p.D1045N|c.3133G>A|6,BUFFER|p.A1046T|c.3136G>A|6,BUFFER|p.A1046E|c.3137C>A|3,BUFFER|p.H1047Q|c.3141T>G|4,BUFFER|p.H1048R|c.3143A>G|6,BUFFER|p.H1048R|c.3143A>G|3,BUFFER|p.G1049S|c.3145G>A|16,BUFFER|p.G1049R|c.3145G>C|29,BUFFER|p.G1049R|c.3145G>C|5,BUFFER|p.G1049A|c.3146G>C|3,BUFFER|p.G1049D|c.3146G>A|4,BUFFER|p.G1049G|c.3147T>C|10,BUFFER|p.G1050S|c.3148G>A|3,BUFFER|p.G1050D|c.3149G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000263967	.	21/21	.	.	.	.	.	.	.	.	rs121913279,COSM776,COSM775,COSM249874,COSM94987,COSM94986	21/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	25710561	benign(0.085)	.	tolerated(0.44)	0,1,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.His1047Leu,ENST00000263967,;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	3297	170	165	SUCCESS
TBCCD1	55171	.	GRCh37	3	186272389	186272389	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	6	176	0	ENST00000338733.5:c.1198C>A	p.Leu400Ile	p.L400I	ENST00000338733	NM_018138.3	400	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS3276.1	1198	MUTECT|MUSE	.	CGTAAGAACGT	NONE	.	.	PROSITE_profiles:PS51329,hmmpanther:PTHR16052,Gene3D:2.160.20.70,Pfam_domain:PF07986,SMART_domains:SM00673	.	.	ENSP00000411253	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000424280	Transcript	.	.	ENSG00000113838	25546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.794)	.	deleterious(0.02)	.	TBCC1_HUMAN	TBCCD1	HGNC	C9J4M0_HUMAN	.	UPI0000073055	SNV	TBCCD1,missense_variant,p.Leu400Ile,ENST00000338733,;TBCCD1,missense_variant,p.Leu304Ile,ENST00000446782,;TBCCD1,missense_variant,p.Leu400Ile,ENST00000424280,;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;	1678	176	191	SUCCESS
HRG	3273	.	GRCh37	3	186395095	186395095	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774629799	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	72	150	0	ENST00000232003.4:c.1001C>T	p.Thr334Ile	p.T334I	ENST00000232003	NM_000412.2	334	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS3280.1	1001	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACAAATG	NONE	.	.	hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF3	.	.	ENSP00000232003	.	7/7	.	.	.	.	.	.	.	.	rs774629799	7/7	PASS	ENST00000232003	Transcript	.	.	ENSG00000113905	5181	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	tolerated(0.15)	.	HRG_HUMAN	HRG	HGNC	.	.	UPI000012CBC3	SNV	HRG,missense_variant,p.Thr334Ile,ENST00000232003,;HRG,non_coding_transcript_exon_variant,,ENST00000495413,;	1081	150	156	SUCCESS
NKTR	4820	.	GRCh37	3	42678871	42678871	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	133	246	0	ENST00000232978.8:c.1675C>A	p.His559Asn	p.H559N	ENST00000232978	NM_005385.3	559	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS2702.1	1675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCACCGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000232978	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000232978	Transcript	.	.	ENSG00000114857	7833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	NKTR_HUMAN	NKTR	HGNC	.	.	UPI00001301FD	SNV	NKTR,missense_variant,p.His559Asn,ENST00000232978,;RP4-613B23.1,intron_variant,,ENST00000445452,;RP4-613B23.1,intron_variant,,ENST00000434363,;RP4-613B23.1,intron_variant,,ENST00000438017,;NKTR,3_prime_UTR_variant,,ENST00000429888,;NKTR,non_coding_transcript_exon_variant,,ENST00000465584,;NKTR,non_coding_transcript_exon_variant,,ENST00000468735,;NKTR,downstream_gene_variant,,ENST00000508351,;NKTR,downstream_gene_variant,,ENST00000464315,;NKTR,downstream_gene_variant,,ENST00000472258,;NKTR,downstream_gene_variant,,ENST00000460807,;NKTR,downstream_gene_variant,,ENST00000472127,;NKTR,downstream_gene_variant,,ENST00000498730,;	1863	246	300	SUCCESS
LAMB2	3913	.	GRCh37	3	49166162	49166162	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	68	0	ENST00000305544.4:c.1822C>T	p.Leu608=	p.L608=	ENST00000305544		608	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2789.1	1822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGGGTCT	NONE	.	.	PROSITE_profiles:PS51116,hmmpanther:PTHR10574:SF36,hmmpanther:PTHR10574	.	.	ENSP00000388325	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	SNV	LAMB2,synonymous_variant,p.%3D,ENST00000305544,;LAMB2,synonymous_variant,p.%3D,ENST00000418109,;LAMB2,downstream_gene_variant,,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000464891,;LAMB2,non_coding_transcript_exon_variant,,ENST00000483321,;LAMB2,non_coding_transcript_exon_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,upstream_gene_variant,,ENST00000493571,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000477701,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,upstream_gene_variant,,ENST00000483057,;	1987	68	89	SUCCESS
BSN	8927	.	GRCh37	3	49694957	49694957	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	56	132	0	ENST00000296452.4:c.7968C>A	p.Ala2656=	p.A2656=	ENST00000296452	NM_003458.3	2656	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2800.1	7968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCACTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	COSM584160	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,synonymous_variant,p.%3D,ENST00000296452,;	8082	132	144	SUCCESS
C4orf21	0	.	GRCh37	4	113538660	113538660	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	98	196	0	ENST00000445203.2:c.2445A>T	p.Lys815Asn	p.K815N	ENST00000445203		815	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS3700.2	2538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTTTCAA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	.	.	ENSP00000424737	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.05)	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,missense_variant,p.Lys846Asn,ENST00000309071,;C4orf21,missense_variant,p.Lys846Asn,ENST00000505019,;C4orf21,missense_variant,p.Lys815Asn,ENST00000445203,;C4orf21,downstream_gene_variant,,ENST00000503172,;C4orf21,missense_variant,p.Lys846Asn,ENST00000473015,;C4orf21,3_prime_UTR_variant,,ENST00000514770,;C4orf21,non_coding_transcript_exon_variant,,ENST00000264370,;C4orf21,downstream_gene_variant,,ENST00000502805,;C4orf21,downstream_gene_variant,,ENST00000512075,;	2664	196	233	SUCCESS
SPATA5	166378	.	GRCh37	4	123868516	123868516	+	synonymous_variant	Silent	SNP	G	G	A	rs140187138	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	37	94	0	ENST00000274008.4:c.1587G>A	p.Arg529=	p.R529=	ENST00000274008	NM_145207.2	529	cgG/cgA	0	T:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS3730.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCGGCTAGA	NONE	byCluster	.	hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	T:0	ENSP00000274008	.	9/16	.	.	.	.	.	.	.	.	rs140187138	9/16	PASS	ENST00000274008	Transcript	.	.	ENSG00000145375	18119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAT5_HUMAN	SPATA5	HGNC	.	.	UPI000013D9E6	SNV	SPATA5,synonymous_variant,p.%3D,ENST00000274008,;SPATA5,non_coding_transcript_exon_variant,,ENST00000422835,;	1656	94	98	SUCCESS
JADE1	79960	.	GRCh37	4	129782877	129782877	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369651997	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	55	110	0	ENST00000226319.6:c.1000C>T	p.Arg334Cys	p.R334C	ENST00000226319	NM_199320.2	334	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS34062.1	1000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCGCACA	NONE	byCluster	.	hmmpanther:PTHR13793:SF79,hmmpanther:PTHR13793,Pfam_domain:PF13832,SMART_domains:SM00249	.	T:0.0001	ENSP00000226319	.	9/11	.	.	.	.	.	.	.	.	rs369651997	9/11	PASS	ENST00000226319	Transcript	.	.	ENSG00000077684	30027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	tolerated(0.05)	.	JADE1_HUMAN	JADE1	HGNC	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN	.	UPI000020B45B	SNV	JADE1,missense_variant,p.Arg322Cys,ENST00000452328,;JADE1,missense_variant,p.Arg334Cys,ENST00000512960,;JADE1,missense_variant,p.Arg334Cys,ENST00000511647,;JADE1,missense_variant,p.Arg334Cys,ENST00000413543,;JADE1,missense_variant,p.Arg334Cys,ENST00000226319,;SCLT1,downstream_gene_variant,,ENST00000503565,;	1280	110	128	SUCCESS
TBC1D9	23158	.	GRCh37	4	141600769	141600769	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	62	120	0	ENST00000442267.2:c.589G>A	p.Ala197Thr	p.A197T	ENST00000442267	NM_015130.2	197	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47136.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTTCCC	NONE	.	.	hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957,Pfam_domain:PF02893,SMART_domains:SM00568	.	.	ENSP00000411197	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	tolerated(0.16)	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,missense_variant,p.Ala197Thr,ENST00000442267,;TBC1D9,upstream_gene_variant,,ENST00000514787,;	664	120	153	SUCCESS
DCHS2	54798	.	GRCh37	4	155163890	155163890	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	61	0	ENST00000357232.4:c.5611A>T	p.Arg1871Trp	p.R1871W	ENST00000357232	NM_017639.3	1871	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3785.1	5611	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTGGGCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Arg1871Trp,ENST00000357232,;	5611	61	55	SUCCESS
TRIML1	339976	.	GRCh37	4	189068011	189068011	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	63	158	0	ENST00000332517.3:c.892T>A	p.Tyr298Asn	p.Y298N	ENST00000332517	NM_178556.3	298	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS3851.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTATCTC	BUFFER|p.L299L|c.897C>T|4	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000327738	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000332517	Transcript	.	.	ENSG00000184108	26698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.661)	.	deleterious(0.05)	.	TRIML_HUMAN	TRIML1	HGNC	.	.	UPI000006FC8A	SNV	TRIML1,missense_variant,p.Tyr298Asn,ENST00000332517,;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,;TRIML1,non_coding_transcript_exon_variant,,ENST00000512233,;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,;	1032	158	168	SUCCESS
RFC1	5981	.	GRCh37	4	39344053	39344054	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	113	13	106	0	ENST00000381897.1:c.242dup	p.Asn81LysfsTer14	p.N81Kfs*14	ENST00000381897	NM_002913.4	81	aat/aaAt	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS56329.1	242-243	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGGCATTTTT	NONE	.	.	hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,PIRSF_domain:PIRSF036578	.	.	ENSP00000371321	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000381897	Transcript	.	.	ENSG00000035928	9969	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RFC1_HUMAN	RFC1	HGNC	.	.	UPI0000167BB4	insertion	RFC1,frameshift_variant,p.Asn53LysfsTer14,ENST00000503784,;RFC1,frameshift_variant,p.Asn81LysfsTer14,ENST00000381897,;RFC1,frameshift_variant,p.Asn81LysfsTer14,ENST00000349703,;RFC1,non_coding_transcript_exon_variant,,ENST00000418436,;RFC1,frameshift_variant,p.Asn81LysfsTer14,ENST00000512275,;RFC1,non_coding_transcript_exon_variant,,ENST00000504849,;	376-377	106	126	SUCCESS
GABRA2	2555	.	GRCh37	4	46305505	46305505	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	134	253	0	ENST00000356504.1:c.828A>T	p.Arg276Ser	p.R276S	ENST00000356504	NM_001114175.1	276	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS3471.1	828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTCTGTT	NONE	.	.	hmmpanther:PTHR18945:SF218,hmmpanther:PTHR18945,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	.	.	ENSP00000421828	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.03)	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	SNV	GABRA2,missense_variant,p.Arg276Ser,ENST00000510861,;GABRA2,missense_variant,p.Arg276Ser,ENST00000515082,;GABRA2,missense_variant,p.Arg276Ser,ENST00000356504,;GABRA2,missense_variant,p.Arg276Ser,ENST00000507069,;GABRA2,missense_variant,p.Arg276Ser,ENST00000381620,;GABRA2,missense_variant,p.Arg221Ser,ENST00000540012,;GABRA2,missense_variant,p.Arg276Ser,ENST00000514090,;GABRA2,missense_variant,p.Arg45Ser,ENST00000514236,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,downstream_gene_variant,,ENST00000514193,;	1002	253	295	SUCCESS
KIAA1211	0	.	GRCh37	4	57181349	57181349	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370638037	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	133	0	ENST00000504228.1:c.1681G>A	p.Ala561Thr	p.A561T	ENST00000504228		561	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43230.1	1681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGCAAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	.	.	ENSP00000423366	.	6/9	.	.	.	.	.	.	.	.	rs370638037	6/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	tolerated(0.25)	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,missense_variant,p.Ala561Thr,ENST00000504228,;KIAA1211,missense_variant,p.Ala561Thr,ENST00000264229,;KIAA1211,missense_variant,p.Ala554Thr,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	1786	133	135	SUCCESS
ALB	213	.	GRCh37	4	74285253	74285253	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775683603	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	30	105	0	ENST00000295897.4:c.1682C>G	p.Pro561Arg	p.P561R	ENST00000295897	NM_000477.5	561	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS3555.1	1682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCCCAAGG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	13/15	.	.	.	.	.	.	.	.	rs775683603	13/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Pro561Arg,ENST00000509063,;ALB,missense_variant,p.Pro406Arg,ENST00000511370,;ALB,missense_variant,p.Pro369Arg,ENST00000415165,;ALB,missense_variant,p.Pro561Arg,ENST00000295897,;ALB,missense_variant,p.Pro411Arg,ENST00000503124,;ALB,missense_variant,p.Pro446Arg,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,intron_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1771	105	91	SUCCESS
CDS1	1040	.	GRCh37	4	85569727	85569727	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	102	263	0	ENST00000295887.5:c.1274A>C	p.Lys425Thr	p.K425T	ENST00000295887	NM_001263.3	425	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS3608.1	1274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAAAGTGC	NONE	.	.	PIRSF_domain:PIRSF018269,hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF5	.	.	ENSP00000295887	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000295887	Transcript	.	.	ENSG00000163624	1800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	deleterious(0.04)	.	CDS1_HUMAN	CDS1	HGNC	.	.	UPI0000127453	SNV	CDS1,missense_variant,p.Lys425Thr,ENST00000295887,;	1697	263	140	SUCCESS
VDAC1	7416	.	GRCh37	5	133326695	133326695	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	94	0	ENST00000265333.3:c.268C>T	p.Gln90Ter	p.Q90*	ENST00000265333	NM_003374.2	90	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS4168.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGATCTT	NONE	.	.	hmmpanther:PTHR11743:SF13,hmmpanther:PTHR11743,Pfam_domain:PF01459,Gene3D:2.40.160.10	.	.	ENSP00000265333	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000265333	Transcript	.	.	ENSG00000213585	12669	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VDAC1_HUMAN	VDAC1	HGNC	C9JI87_HUMAN	.	UPI000004C7D8	SNV	VDAC1,stop_gained,p.Gln90Ter,ENST00000265333,;VDAC1,stop_gained,p.Gln90Ter,ENST00000395047,;VDAC1,stop_gained,p.Gln90Ter,ENST00000395044,;VDAC1,stop_gained,p.Gln90Ter,ENST00000425992,;VDAC1,splice_region_variant,,ENST00000466080,;	513	94	89	SUCCESS
TGFBI	7045	.	GRCh37	5	135389646	135389646	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	76	0	ENST00000442011.2:c.1141G>A	p.Glu381Lys	p.E381K	ENST00000442011	NM_000358.2	381	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47266.1	1141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTGAATTG	NONE	.	.	PROSITE_profiles:PS50213,hmmpanther:PTHR10900:SF74,hmmpanther:PTHR10900,Gene3D:2.30.180.10,PIRSF_domain:PIRSF016553,Superfamily_domains:SSF82153	.	.	ENSP00000416330	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000442011	Transcript	1	.	ENSG00000120708	11771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	BGH3_HUMAN	TGFBI	HGNC	D6RBX4_HUMAN,C7FFS5_HUMAN	.	UPI0000000C6A	SNV	TGFBI,missense_variant,p.Glu381Lys,ENST00000442011,;TGFBI,missense_variant,p.Glu120Lys,ENST00000508767,;TGFBI,missense_variant,p.Glu99Lys,ENST00000514554,;TGFBI,missense_variant,p.Glu381Lys,ENST00000305126,;TGFBI,missense_variant,p.Glu125Lys,ENST00000604555,;TGFBI,upstream_gene_variant,,ENST00000508076,;TGFBI,missense_variant,p.Glu6Lys,ENST00000509485,;TGFBI,3_prime_UTR_variant,,ENST00000507018,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,downstream_gene_variant,,ENST00000509749,;TGFBI,upstream_gene_variant,,ENST00000513497,;TGFBI,upstream_gene_variant,,ENST00000514242,;	1302	76	90	SUCCESS
KDM3B	51780	.	GRCh37	5	137708413	137708413	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	56	120	0	ENST00000314358.5:c.243A>G	p.Lys81=	p.K81=	ENST00000314358	NM_016604.3	81	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS34242.1	243	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAAGTTCA	BUFFER|p.H83R|c.248A>G|7	.	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8	.	.	ENSP00000326563	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000314358	Transcript	.	.	ENSG00000120733	1337	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM3B_HUMAN	KDM3B	HGNC	F5H275_HUMAN	.	UPI000020C6A8	SNV	KDM3B,synonymous_variant,p.%3D,ENST00000314358,;KDM3B,synonymous_variant,p.%3D,ENST00000510866,;KDM3B,upstream_gene_variant,,ENST00000512928,;	443	120	126	SUCCESS
CTNNA1	1495	.	GRCh37	5	138268367	138268367	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	31	84	0	ENST00000302763.7:c.2399T>A	p.Val800Glu	p.V800E	ENST00000302763	NM_001903.2	800	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS34243.1	2399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGTGCAGA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220	.	.	ENSP00000304669	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,missense_variant,p.Val430Glu,ENST00000540387,;CTNNA1,missense_variant,p.Val800Glu,ENST00000518825,;CTNNA1,missense_variant,p.Val800Glu,ENST00000302763,;CTNNA1,missense_variant,p.Val697Glu,ENST00000355078,;CTNNA1,intron_variant,,ENST00000520520,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000522792,;CTNNA1,downstream_gene_variant,,ENST00000521368,;CTNNA1,downstream_gene_variant,,ENST00000521387,;	2489	84	83	SUCCESS
TRIO	7204	.	GRCh37	5	14394211	14394211	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs879255626	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	68	149	0	ENST00000344204.4:c.4283G>A	p.Arg1428Gln	p.R1428Q	ENST00000344204	NM_007118.2	1428	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3883.1	4283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGAATAA	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Gene3D:1.20.900.10,Pfam_domain:PF00621,hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826,PROSITE_profiles:PS50010	.	.	ENSP00000339299	.	28/57	.	.	.	.	.	.	.	.	COSM3209842	28/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	.	1	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,missense_variant,p.Arg1428Gln,ENST00000537187,;TRIO,missense_variant,p.Arg1379Gln,ENST00000509967,;TRIO,missense_variant,p.Arg1428Gln,ENST00000344204,;TRIO,missense_variant,p.Arg1161Gln,ENST00000513206,;TRIO,missense_variant,p.Arg1369Gln,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000502490,;TRIO,upstream_gene_variant,,ENST00000509354,;	4307	149	175	SUCCESS
LCP2	3937	.	GRCh37	5	169693828	169693828	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	59	142	0	ENST00000046794.5:c.756A>C	p.Arg252Ser	p.R252S	ENST00000046794	NM_005565.3	252	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS47339.1	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTCTATC	NONE	.	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1	.	.	ENSP00000046794	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	deleterious(0.01)	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,missense_variant,p.Arg47Ser,ENST00000521416,;LCP2,missense_variant,p.Arg252Ser,ENST00000046794,;LCP2,intron_variant,,ENST00000520344,;LCP2,downstream_gene_variant,,ENST00000519594,;	1372	142	162	SUCCESS
HNRNPH1	3187	.	GRCh37	5	179046347	179046347	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	73	143	0	ENST00000356731.5:c.459G>A	p.Gly153=	p.G153=	ENST00000356731		153	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4446.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCCCCGT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13976:SF33,hmmpanther:PTHR13976,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000349168	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000356731	Transcript	1	.	ENSG00000169045	5041	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRH1_HUMAN	HNRNPH1	HGNC	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN	.	UPI0000000C2B	SNV	HNRNPH1,synonymous_variant,p.%3D,ENST00000504348,;HNRNPH1,synonymous_variant,p.%3D,ENST00000329433,;HNRNPH1,synonymous_variant,p.%3D,ENST00000505811,;HNRNPH1,synonymous_variant,p.%3D,ENST00000523137,;HNRNPH1,synonymous_variant,p.%3D,ENST00000442819,;HNRNPH1,synonymous_variant,p.%3D,ENST00000356731,;HNRNPH1,synonymous_variant,p.%3D,ENST00000519056,;HNRNPH1,synonymous_variant,p.%3D,ENST00000393432,;HNRNPH1,synonymous_variant,p.%3D,ENST00000513225,;HNRNPH1,synonymous_variant,p.%3D,ENST00000510411,;HNRNPH1,synonymous_variant,p.%3D,ENST00000521173,;HNRNPH1,synonymous_variant,p.%3D,ENST00000521790,;HNRNPH1,intron_variant,,ENST00000510431,;HNRNPH1,intron_variant,,ENST00000508103,;HNRNPH1,intron_variant,,ENST00000506721,;HNRNPH1,intron_variant,,ENST00000503105,;HNRNPH1,downstream_gene_variant,,ENST00000503664,;HNRNPH1,upstream_gene_variant,,ENST00000523449,;HNRNPH1,upstream_gene_variant,,ENST00000523921,;HNRNPH1,downstream_gene_variant,,ENST00000515714,;HNRNPH1,downstream_gene_variant,,ENST00000521116,;HNRNPH1,upstream_gene_variant,,ENST00000511300,;HNRNPH1,downstream_gene_variant,,ENST00000522256,;HNRNPH1,upstream_gene_variant,,ENST00000523136,;HNRNPH1,downstream_gene_variant,,ENST00000515158,;HNRNPH1,upstream_gene_variant,,ENST00000519033,;HNRNPH1,intron_variant,,ENST00000518548,;HNRNPH1,downstream_gene_variant,,ENST00000519455,;HNRNPH1,downstream_gene_variant,,ENST00000524180,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000522958,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000515481,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000520415,;HNRNPH1,intron_variant,,ENST00000519958,;HNRNPH1,intron_variant,,ENST00000514731,;HNRNPH1,intron_variant,,ENST00000510678,;HNRNPH1,intron_variant,,ENST00000504779,;HNRNPH1,downstream_gene_variant,,ENST00000513230,;HNRNPH1,upstream_gene_variant,,ENST00000502632,;HNRNPH1,downstream_gene_variant,,ENST00000515446,;HNRNPH1,downstream_gene_variant,,ENST00000512273,;HNRNPH1,upstream_gene_variant,,ENST00000524179,;HNRNPH1,downstream_gene_variant,,ENST00000505087,;HNRNPH1,downstream_gene_variant,,ENST00000519707,;HNRNPH1,upstream_gene_variant,,ENST00000504549,;HNRNPH1,upstream_gene_variant,,ENST00000502904,;HNRNPH1,upstream_gene_variant,,ENST00000521720,;HNRNPH1,downstream_gene_variant,,ENST00000513972,;HNRNPH1,downstream_gene_variant,,ENST00000519943,;	1995	143	181	SUCCESS
ITGA2	3673	.	GRCh37	5	52376395	52376395	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1300123988	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	51	146	0	ENST00000296585.5:c.2983C>T	p.Gln995Ter	p.Q995*	ENST00000296585	NM_002203.3	995	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3957.1	2983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCAGTAT	NONE	.	.	Superfamily_domains:SSF69179,Gene3D:1jv2A04,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23	.	.	ENSP00000296585	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,stop_gained,p.Gln995Ter,ENST00000296585,;ITGA2,3_prime_UTR_variant,,ENST00000510722,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000509814,;	3126	146	126	SUCCESS
FST	10468	.	GRCh37	5	52776658	52776658	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1160465727	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	59	0	ENST00000256759.3:c.37C>G	p.Leu13Val	p.L13V	ENST00000256759	NM_013409.2	13	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS3959.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCCTCCTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF6	.	.	ENSP00000256759	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000256759	Transcript	.	.	ENSG00000134363	3971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.39)	.	FST_HUMAN	FST	HGNC	.	.	UPI000012AC56	SNV	FST,missense_variant,p.Leu13Val,ENST00000396947,;FST,missense_variant,p.Leu13Val,ENST00000256759,;FST,upstream_gene_variant,,ENST00000497789,;FST,upstream_gene_variant,,ENST00000504226,;FST,upstream_gene_variant,,ENST00000491717,;	420	59	72	SUCCESS
ADAMTS6	11174	.	GRCh37	5	64483860	64483860	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	4	73	0	ENST00000381055.3:c.2893G>A	p.Ala965Thr	p.A965T	ENST00000381055	NM_197941.2	965	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3983.2	2893	MUTECT|MUSE	.	CAAAGCCACCC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000370443	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000381055	Transcript	.	.	ENSG00000049192	222	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.64)	.	ATS6_HUMAN	ADAMTS6	HGNC	Q5IR90_HUMAN	.	UPI000050D3F1	SNV	ADAMTS6,missense_variant,p.Ala965Thr,ENST00000381055,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000417396,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000314351,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;	3750	73	72	SUCCESS
BHMT2	23743	.	GRCh37	5	78379661	78379661	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	103	278	0	ENST00000255192.3:c.992A>C	p.Lys331Thr	p.K331T	ENST00000255192	NM_017614.4	331	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS4045.1	992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAAACCCT	NONE	.	.	hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF94,Gene3D:3.20.20.330,PIRSF_domain:PIRSF037505,Superfamily_domains:SSF82282	.	.	ENSP00000255192	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000255192	Transcript	.	.	ENSG00000132840	1048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	deleterious(0.02)	.	BHMT2_HUMAN	BHMT2	HGNC	E5RH96_HUMAN	.	UPI00000701B9	SNV	BHMT2,missense_variant,p.Lys267Thr,ENST00000521567,;BHMT2,missense_variant,p.Lys331Thr,ENST00000255192,;BHMT2,downstream_gene_variant,,ENST00000518666,;DMGDH,intron_variant,,ENST00000520388,;BHMT2,downstream_gene_variant,,ENST00000523046,;BHMT2,downstream_gene_variant,,ENST00000519743,;BHMT2,downstream_gene_variant,,ENST00000518758,;	1058	278	294	SUCCESS
GPR98	0	.	GRCh37	5	90079735	90079735	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	112	0	ENST00000405460.2:c.13514T>C	p.Ile4505Thr	p.I4505T	ENST00000405460	NM_032119.3	4505	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47246.1	13514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATCATAA	BUFFER|p.S4503G|c.13507A>G|7,BUFFER|p.R4504G|c.13510A>G|3,BUFFER|p.R4504K|c.13511G>A|3	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	67/90	.	.	.	.	.	.	.	.	COSM3856859	67/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.84)	.	.	1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ile4505Thr,ENST00000405460,;GPR98,missense_variant,p.Ile166Thr,ENST00000425867,;	13610	112	119	SUCCESS
METTL24	728464	.	GRCh37	6	110620219	110620219	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs757373983	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	48	0	ENST00000338882.4:c.692A>G	p.Asp231Gly	p.D231G	ENST00000338882	NM_001123364.1	231	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS43489.1	692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGTCAATG	NONE	.	.	hmmpanther:PTHR24637,hmmpanther:PTHR24637:SF13,Pfam_domain:PF13383	.	.	ENSP00000344071	.	4/5	.	.	.	.	.	.	.	.	rs757373983	4/5	PASS	ENST00000338882	Transcript	.	.	ENSG00000053328	21566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.559)	.	deleterious(0)	.	MET24_HUMAN	METTL24	HGNC	.	.	UPI0000470C21	SNV	METTL24,missense_variant,p.Asp231Gly,ENST00000338882,;	692	48	47	SUCCESS
REV3L	5980	.	GRCh37	6	111695854	111695854	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	59	0	ENST00000358835.3:c.3704del	p.Ser1235LeufsTer9	p.S1235Lfs*9	ENST00000358835		1235	tCt/tt	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS5091.2	3704	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACCAGACTGA	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	deletion	REV3L,frameshift_variant,p.Ser1157LeufsTer9,ENST00000435970,;REV3L,frameshift_variant,p.Ser1235LeufsTer9,ENST00000358835,;REV3L,frameshift_variant,p.Ser1235LeufsTer9,ENST00000368802,;REV3L,frameshift_variant,p.Ser1235LeufsTer9,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	4159	59	91	SUCCESS
NEDD9	4739	.	GRCh37	6	11213881	11213881	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	39	94	0	ENST00000379446.5:c.92C>T	p.Thr31Ile	p.T31I	ENST00000379446	NM_001271033.1	31	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4520.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGGTCAGG	NONE	.	.	Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF14604,Gene3D:2.30.30.40,hmmpanther:PTHR10654:SF6,hmmpanther:PTHR10654,PROSITE_profiles:PS50002	.	.	ENSP00000368759	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000379446	Transcript	.	.	ENSG00000111859	7733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CASL_HUMAN	NEDD9	HGNC	D6RGD7_HUMAN	.	UPI000000D981	SNV	NEDD9,missense_variant,p.Thr25Ile,ENST00000513989,;NEDD9,missense_variant,p.Thr31Ile,ENST00000504387,;NEDD9,missense_variant,p.Thr31Ile,ENST00000379446,;NEDD9,missense_variant,p.Thr31Ile,ENST00000379433,;NEDD9,missense_variant,p.Thr31Ile,ENST00000397378,;NEDD9,downstream_gene_variant,,ENST00000508546,;RP3-510L9.1,intron_variant,,ENST00000500636,;NEDD9,3_prime_UTR_variant,,ENST00000448183,;	259	94	93	SUCCESS
TBC1D32	221322	.	GRCh37	6	121624863	121624863	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	10	155	0	ENST00000398212.2:c.980T>G	p.Val327Gly	p.V327G	ENST00000398212	NM_152730.4	327	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS43501.1	980	MUTECT|MUSE	.	GTTTAACTGTT	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.419)	.	deleterious(0)	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,missense_variant,p.Val327Gly,ENST00000398212,;TBC1D32,missense_variant,p.Val327Gly,ENST00000275159,;TBC1D32,downstream_gene_variant,,ENST00000422369,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	1030	155	169	SUCCESS
SYNE1	23345	.	GRCh37	6	152671436	152671436	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	58	0	ENST00000367255.5:c.11768A>G	p.Asp3923Gly	p.D3923G	ENST00000367255	NM_182961.3	3923	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS5236.2	11768	RADIA|MUTECT|MUSE	.	CATGGTCTTTG	NONE	.	.	Superfamily_domains:SSF46966,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	72/146	.	.	.	.	.	.	.	.	COSM1487370,COSM1487369	72/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.282)	.	.	1,1	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Asp3923Gly,ENST00000367255,;SYNE1,missense_variant,p.Asp3847Gly,ENST00000341594,;SYNE1,missense_variant,p.Asp3923Gly,ENST00000265368,;SYNE1,intron_variant,,ENST00000448038,;SYNE1,intron_variant,,ENST00000423061,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	12370	58	52	SUCCESS
OR2J3	442186	.	GRCh37	6	29079911	29079911	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	61	124	0	ENST00000377169.1:c.244C>T	p.Pro82Ser	p.P82S	ENST00000377169	NM_001005216.3	82	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43433.1	244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCCCTCAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Pro82Ser,ENST00000377169,;	244	124	139	SUCCESS
MUC21	394263	.	GRCh37	6	30955326	30955326	+	synonymous_variant	Silent	SNP	T	T	G	.	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	61	131	0	ENST00000376296.3:c.1374T>G	p.Thr458=	p.T458=	ENST00000376296	NM_001010909.2	458	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS34388.1	1374	RADIA|MUTECT|MUSE	.	ACAACTTCCCA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF05647	.	.	ENSP00000365473	.	2/3	.	.	.	.	.	.	.	.	COSM1719564	2/3	PASS	ENST00000376296	Transcript	.	.	ENSG00000204544	21661	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	MUC21_HUMAN	MUC21	HGNC	.	.	UPI000047030C	SNV	MUC21,synonymous_variant,p.%3D,ENST00000376296,;MUC21,synonymous_variant,p.%3D,ENST00000486149,;	1615	131	140	SUCCESS
C2	717	.	GRCh37	6	31903820	31903820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	35	94	0	ENST00000299367.5:c.970G>A	p.Glu324Lys	p.E324K	ENST00000299367	NM_000063.4	324	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4728.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGAAAAT	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,PIRSF_domain:PIRSF001154,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR19325:SF227,hmmpanther:PTHR19325,PROSITE_profiles:PS50234	.	.	ENSP00000299367	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000299367	Transcript	.	.	ENSG00000166278	1248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	tolerated(0.09)	.	CO2_HUMAN	C2	HGNC	Q95IG1_HUMAN,Q6LDG4_HUMAN,Q5ST52_HUMAN,Q5JP69_HUMAN	.	UPI000000DA4D	SNV	C2,missense_variant,p.Glu78Lys,ENST00000469372,;C2,missense_variant,p.Glu192Lys,ENST00000442278,;C2,missense_variant,p.Glu324Lys,ENST00000299367,;C2,missense_variant,p.Glu111Lys,ENST00000497706,;CFB,intron_variant,,ENST00000456570,;CFB,intron_variant,,ENST00000477310,;CFB,intron_variant,,ENST00000556679,;C2,intron_variant,,ENST00000452323,;C2,intron_variant,,ENST00000383177,;C2,downstream_gene_variant,,ENST00000494905,;C2,downstream_gene_variant,,ENST00000452202,;C2,downstream_gene_variant,,ENST00000447952,;C2,downstream_gene_variant,,ENST00000418949,;C2,missense_variant,p.Glu47Lys,ENST00000485690,;C2,3_prime_UTR_variant,,ENST00000482060,;C2,3_prime_UTR_variant,,ENST00000411571,;C2,upstream_gene_variant,,ENST00000486124,;C2,downstream_gene_variant,,ENST00000484636,;	1246	94	108	SUCCESS
SKIV2L	6499	.	GRCh37	6	31933608	31933608	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs565924623	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	44	147	0	ENST00000375394.2:c.2020C>G	p.Arg674Gly	p.R674G	ENST00000375394	NM_006929.4	674	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS4731.1	2020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCGTACA	NONE	byCluster	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,PIRSF_domain:PIRSF005198,Superfamily_domains:SSF52540	.	.	ENSP00000364543	.	18/28	.	.	.	.	.	.	.	.	rs565924623	18/28	PASS	ENST00000375394	Transcript	.	.	ENSG00000204351	10898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SKIV2_HUMAN	SKIV2L	HGNC	Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN	.	UPI000045740B	SNV	SKIV2L,missense_variant,p.Arg481Gly,ENST00000544581,;SKIV2L,missense_variant,p.Arg674Gly,ENST00000375394,;DXO,downstream_gene_variant,,ENST00000495340,;SKIV2L,upstream_gene_variant,,ENST00000491994,;DXO,downstream_gene_variant,,ENST00000375349,;DXO,downstream_gene_variant,,ENST00000337523,;DXO,downstream_gene_variant,,ENST00000375356,;SKIV2L,upstream_gene_variant,,ENST00000471818,;DXO,downstream_gene_variant,,ENST00000474587,;SKIV2L,upstream_gene_variant,,ENST00000470453,;SKIV2L,upstream_gene_variant,,ENST00000461915,;DXO,downstream_gene_variant,,ENST00000487914,;SKIV2L,downstream_gene_variant,,ENST00000488648,;DXO,downstream_gene_variant,,ENST00000478221,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;DXO,downstream_gene_variant,,ENST00000473976,;DXO,downstream_gene_variant,,ENST00000491327,;DXO,downstream_gene_variant,,ENST00000492946,;SKIV2L,upstream_gene_variant,,ENST00000494058,;DXO,downstream_gene_variant,,ENST00000485557,;SKIV2L,upstream_gene_variant,,ENST00000484835,;SKIV2L,downstream_gene_variant,,ENST00000461073,;DXO,downstream_gene_variant,,ENST00000480240,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000477826,;SKIV2L,upstream_gene_variant,,ENST00000483553,;SKIV2L,downstream_gene_variant,,ENST00000466290,;SKIV2L,upstream_gene_variant,,ENST00000485349,;	2133	147	149	SUCCESS
PPP1R2P1	100507444	.	GRCh37	6	32847433	32847433	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	92	0	ENST00000429032.1:n.178G>C		p.*60*	ENST00000429032				0	.	.	.	.	.	G	.	transcribed_processed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTCTGCTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000429032	Transcript	.	.	ENSG00000234515	9289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PPP1R2P1	HGNC	.	.	.	SNV	PPP1R2P1,non_coding_transcript_exon_variant,,ENST00000420261,;PPP1R2P1,non_coding_transcript_exon_variant,,ENST00000429032,;	178	92	101	SUCCESS
RGL2	5863	.	GRCh37	6	33264534	33264534	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs562018570	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	57	143	0	ENST00000497454.1:c.260G>A	p.Arg87His	p.R87H	ENST00000497454	NM_004761.4	87	cGt/cAt	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS4774.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACGTGGG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF159,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591	T:0	.	ENSP00000420211	T:0.001	4/18	.	.	.	.	.	.	.	.	rs562018570,COSM3873143,COSM3873144	4/18	PASS	ENST00000497454	Transcript	.	T:0.0002	ENSG00000237441	9769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.933)	T:0	tolerated(0.6)	0,1,1	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,missense_variant,p.Arg5His,ENST00000444031,;RGL2,missense_variant,p.Arg87His,ENST00000497454,;RGL2,missense_variant,p.Arg87His,ENST00000425946,;PFDN6,intron_variant,,ENST00000463584,;TAPBP,downstream_gene_variant,,ENST00000475304,;TAPBP,downstream_gene_variant,,ENST00000434618,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;RGL2,non_coding_transcript_exon_variant,,ENST00000485077,;RGL2,upstream_gene_variant,,ENST00000471319,;RGL2,non_coding_transcript_exon_variant,,ENST00000478610,;RGL2,non_coding_transcript_exon_variant,,ENST00000460988,;RGL2,non_coding_transcript_exon_variant,,ENST00000494550,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;RGL2,upstream_gene_variant,,ENST00000476616,;	756	143	155	SUCCESS
DAXX	1616	.	GRCh37	6	33288234	33288234	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	51	0	ENST00000374542.5:c.1174A>C	p.Lys392Gln	p.K392Q	ENST00000374542	NM_001141970.1	392	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS4776.1	1174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTTTCTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12766:SF6,hmmpanther:PTHR12766,Pfam_domain:PF03344	.	.	ENSP00000363668	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000374542	Transcript	.	.	ENSG00000204209	2681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	DAXX_HUMAN	DAXX	HGNC	Q5STR5_HUMAN,Q4VX54_HUMAN,A2AB94_HUMAN	.	UPI0000128ED8	SNV	DAXX,missense_variant,p.Lys392Gln,ENST00000374542,;DAXX,missense_variant,p.Lys392Gln,ENST00000266000,;DAXX,missense_variant,p.Lys317Gln,ENST00000414083,;ZBTB22,upstream_gene_variant,,ENST00000431845,;ZBTB22,upstream_gene_variant,,ENST00000418724,;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000453407,;DAXX,downstream_gene_variant,,ENST00000446403,;DAXX,downstream_gene_variant,,ENST00000446511,;DAXX,non_coding_transcript_exon_variant,,ENST00000468536,;DAXX,non_coding_transcript_exon_variant,,ENST00000477162,;DAXX,downstream_gene_variant,,ENST00000477370,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,non_coding_transcript_exon_variant,,ENST00000490173,;DAXX,downstream_gene_variant,,ENST00000498030,;	1379	51	60	SUCCESS
DNAH8	1769	.	GRCh37	6	38758095	38758095	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1210165593	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	58	123	0	ENST00000359357.3:c.2044G>A	p.Val682Met	p.V682M	ENST00000359357		682	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	.	2044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGTGTTA	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	18/91	.	.	.	.	.	.	.	.	.	18/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Val682Met,ENST00000359357,;DNAH8,missense_variant,p.Val887Met,ENST00000327475,;DNAH8,missense_variant,p.Val682Met,ENST00000441566,;DNAH8,missense_variant,p.Val899Met,ENST00000449981,;	2298	123	144	SUCCESS
MCM3	4172	.	GRCh37	6	52132768	52132768	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	86	0	ENST00000229854.7:c.1969-2A>T		p.X657_splice	ENST00000229854		657		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4940.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCTAAGAC	NONE	.	.	.	.	.	ENSP00000472940	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000596288	Transcript	.	.	ENSG00000112118	6945	.	.	HIGH	13/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MCM3	HGNC	Q8NHX6_HUMAN,B4DWW4_HUMAN	.	UPI0000EE4F08	SNV	MCM3,splice_acceptor_variant,,ENST00000421471,;MCM3,splice_acceptor_variant,,ENST00000419835,;MCM3,splice_acceptor_variant,,ENST00000229854,;MCM3,splice_acceptor_variant,,ENST00000596288,;	.	86	102	SUCCESS
RIMS1	22999	.	GRCh37	6	73017046	73017046	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	41	99	0	ENST00000521978.1:c.3936A>G	p.Gln1312=	p.Q1312=	ENST00000521978	NM_014989.5	1312	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS47449.1	3936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCAAGAACT	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	27/34	.	.	.	.	.	.	.	.	.	27/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,synonymous_variant,p.%3D,ENST00000491071,;RIMS1,synonymous_variant,p.%3D,ENST00000453976,;RIMS1,synonymous_variant,p.%3D,ENST00000538414,;RIMS1,synonymous_variant,p.%3D,ENST00000522211,;RIMS1,synonymous_variant,p.%3D,ENST00000517960,;RIMS1,synonymous_variant,p.%3D,ENST00000517433,;RIMS1,synonymous_variant,p.%3D,ENST00000264839,;RIMS1,synonymous_variant,p.%3D,ENST00000401910,;RIMS1,synonymous_variant,p.%3D,ENST00000348717,;RIMS1,synonymous_variant,p.%3D,ENST00000521978,;RIMS1,synonymous_variant,p.%3D,ENST00000370420,;RIMS1,intron_variant,,ENST00000517827,;RIMS1,intron_variant,,ENST00000522291,;RIMS1,intron_variant,,ENST00000520567,;RIMS1,intron_variant,,ENST00000518273,;RIMS1,intron_variant,,ENST00000523963,;RIMS1,intron_variant,,ENST00000425662,;RIMS1,intron_variant,,ENST00000463023,;	3936	99	106	SUCCESS
FAM46A	0	.	GRCh37	6	82462416	82462416	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	56	0	ENST00000320172.6:c.-306A>G		p.*102*	ENST00000320172	NM_017633.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34489.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGTACTTT	NONE	.	.	.	.	.	ENSP00000318298	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000320172	Transcript	.	.	ENSG00000112773	18345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46A_HUMAN	FAM46A	HGNC	.	.	UPI000006E9BA	SNV	FAM46A,missense_variant,p.Thr26Ala,ENST00000369756,;FAM46A,5_prime_UTR_variant,,ENST00000369754,;FAM46A,5_prime_UTR_variant,,ENST00000320172,;FAM46A,upstream_gene_variant,,ENST00000423467,;FAM46A,upstream_gene_variant,,ENST00000412306,;	10	56	66	SUCCESS
GPR146	115330	.	GRCh37	7	1097405	1097405	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	51	0	ENST00000297468.3:c.254T>G	p.Leu85Arg	p.L85R	ENST00000297468	NM_138445.2	85	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS5321.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTCGGCC	BUFFER|p.P81P|c.243T>C|4	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF12,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000380283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397095	Transcript	.	.	ENSG00000164849	21718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GP146_HUMAN	GPR146	HGNC	C9JAQ6_HUMAN,C9J5X5_HUMAN,A4D2Q3_HUMAN	.	UPI0000040BAB	SNV	GPR146,missense_variant,p.Leu85Arg,ENST00000397095,;GPR146,missense_variant,p.Leu85Arg,ENST00000297468,;GPR146,missense_variant,p.Leu85Arg,ENST00000444847,;C7orf50,intron_variant,,ENST00000397100,;C7orf50,intron_variant,,ENST00000357429,;C7orf50,intron_variant,,ENST00000397098,;C7orf50,intron_variant,,ENST00000491163,;GPR146,downstream_gene_variant,,ENST00000427680,;C7orf50,upstream_gene_variant,,ENST00000444428,;RP11-449P15.1,non_coding_transcript_exon_variant,,ENST00000549241,;C7orf50,intron_variant,,ENST00000488073,;GPR146,downstream_gene_variant,,ENST00000474396,;	477	51	74	SUCCESS
KCND2	3751	.	GRCh37	7	120381672	120381672	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	127	256	0	ENST00000331113.4:c.1363A>G	p.Asn455Asp	p.N455D	ENST00000331113	NM_012281.2	455	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS5776.1	1363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTAATCAG	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF86,Pfam_domain:PF11879	.	.	ENSP00000333496	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000331113	Transcript	.	.	ENSG00000184408	6238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.96)	.	KCND2_HUMAN	KCND2	HGNC	A4D0V9_HUMAN,Q75LS7_HUMAN	.	UPI0000073D37	SNV	KCND2,missense_variant,p.Asn41Asp,ENST00000425288,;KCND2,missense_variant,p.Asn455Asp,ENST00000331113,;KCND2,upstream_gene_variant,,ENST00000473190,;	2328	256	310	SUCCESS
SND1	27044	.	GRCh37	7	127729698	127729698	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	67	108	0	ENST00000354725.3:c.2576G>A	p.Gly859Glu	p.G859E	ENST00000354725	NM_014390.2	859	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS34747.1	2576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGGCTGG	NONE	.	.	hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00565,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,Superfamily_domains:0047647	.	.	ENSP00000346762	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,missense_variant,p.Gly859Glu,ENST00000354725,;SND1,downstream_gene_variant,,ENST00000486037,;SND1,non_coding_transcript_exon_variant,,ENST00000485871,;SND1,downstream_gene_variant,,ENST00000470463,;SND1,non_coding_transcript_exon_variant,,ENST00000489417,;	2770	108	133	SUCCESS
NOM1	64434	.	GRCh37	7	156743034	156743034	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	54	134	0	ENST00000275820.3:c.603G>A	p.Lys201=	p.K201=	ENST00000275820	NM_138400.1	201	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS34787.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGGACGG	NONE	.	.	hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034	.	.	ENSP00000275820	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000275820	Transcript	.	.	ENSG00000146909	13244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOM1_HUMAN	NOM1	HGNC	.	.	UPI000020E71F	SNV	NOM1,synonymous_variant,p.%3D,ENST00000275820,;RP5-1121A15.3,downstream_gene_variant,,ENST00000427073,;NOM1,upstream_gene_variant,,ENST00000460332,;	618	134	116	SUCCESS
FAM20C	56975	.	GRCh37	7	295993	295993	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	621	226	599	0	ENST00000313766.5:c.1251C>G		p.X417_splice	ENST00000313766	NM_020223.3	417	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS47522.1	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCGAGTG	NONE	.	.	hmmpanther:PTHR12450:SF11,hmmpanther:PTHR12450,Pfam_domain:PF06702	.	.	ENSP00000322323	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000313766	Transcript	.	.	ENSG00000177706	22140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMP4_HUMAN	FAM20C	HGNC	.	.	UPI00001B5C04	SNV	FAM20C,synonymous_variant,p.%3D,ENST00000313766,;FAM20C,splice_region_variant,,ENST00000515795,;FAM20C,upstream_gene_variant,,ENST00000512382,;	1482	600	848	SUCCESS
AOAH	313	.	GRCh37	7	36570105	36570124	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AGAGTTGCTCTGCTCTCTGA	AGAGTTGCTCTGCTCTCTGA	-	rs768260369	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	AGAGTTGCTCTGCTCTCTGA	AGAGTTGCTCTGCTCTCTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	84	0	ENST00000258749.5:c.1426-4_1441del		p.X476_splice	ENST00000258749	NM_001637.3	476		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5448.1	?-1441	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTGGAGAGTTGCTCTGCTCTCTGAAGAGA	NONE	byFrequency	.	.	.	.	ENSP00000258749	.	19/21	.	.	.	.	.	.	.	.	rs768260369	19/21	PASS	ENST00000258749	Transcript	.	.	ENSG00000136250	548	.	.	HIGH	18/20	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AOAH_HUMAN	AOAH	HGNC	.	.	UPI0000001291	deletion	AOAH,splice_acceptor_variant,,ENST00000535891,;AOAH,splice_acceptor_variant,,ENST00000538464,;AOAH,splice_acceptor_variant,,ENST00000431169,;AOAH,splice_acceptor_variant,,ENST00000258749,;AOAH,splice_acceptor_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,non_coding_transcript_exon_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;	?-1841	84	81	SUCCESS
SFRP4	6424	.	GRCh37	7	37955894	37955894	+	synonymous_variant	Silent	SNP	C	C	T	rs750458196	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	87	0	ENST00000436072.2:c.246G>A	p.Ala82=	p.A82=	ENST00000436072	NM_003014.3	82	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5453.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCGCGTA	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF7,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000410715	.	1/6	.	.	.	.	.	.	.	.	rs750458196	1/6	PASS	ENST00000436072	Transcript	.	.	ENSG00000106483	10778	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFRP4_HUMAN	SFRP4	HGNC	.	.	UPI000004ECBF	SNV	SFRP4,synonymous_variant,p.%3D,ENST00000436072,;SFRP4,intron_variant,,ENST00000447200,;EPDR1,intron_variant,,ENST00000476620,;EPDR1,upstream_gene_variant,,ENST00000559325,;EPDR1,upstream_gene_variant,,ENST00000199448,;EPDR1,upstream_gene_variant,,ENST00000423717,;	624	87	90	SUCCESS
HGF	3082	.	GRCh37	7	81332030	81332030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	350	37	327	0	ENST00000222390.5:c.2054G>T	p.Arg685Ile	p.R685I	ENST00000222390	NM_000601.4	685	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS5597.1	2054	RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTCATT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF500183,SMART_domains:SM00020,PIRSF_domain:PIRSF001152,Superfamily_domains:SSF50494	.	.	ENSP00000222390	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.16)	.	deleterious(0.02)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Arg680Ile,ENST00000457544,;HGF,missense_variant,p.Arg685Ile,ENST00000222390,;	2281	327	387	SUCCESS
PCLO	27445	.	GRCh37	7	82545938	82545938	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	38	110	0	ENST00000333891.9:c.11364T>A	p.Asp3788Glu	p.D3788E	ENST00000333891	NM_033026.5	3788	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS47630.1	11364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCATCAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Asp508Glu,ENST00000437081,;PCLO,missense_variant,p.Asp3788Glu,ENST00000333891,;PCLO,missense_variant,p.Asp3788Glu,ENST00000423517,;	11702	110	101	SUCCESS
ABCB4	5244	.	GRCh37	7	87047881	87047881	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	76	0	ENST00000265723.4:c.2450T>A	p.Leu817His	p.L817H	ENST00000265723	NM_000443.3	817	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS5606.1	2450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAAGTCTT	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265723	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000265723	Transcript	.	.	ENSG00000005471	45	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MDR3_HUMAN	ABCB4	HGNC	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN	.	UPI000013D66B	SNV	ABCB4,missense_variant,p.Leu817His,ENST00000453593,;ABCB4,missense_variant,p.Leu817His,ENST00000265723,;ABCB4,missense_variant,p.Leu817His,ENST00000358400,;ABCB4,missense_variant,p.Leu817His,ENST00000545634,;ABCB4,missense_variant,p.Leu817His,ENST00000359206,;	2562	76	90	SUCCESS
KCNQ3	3786	.	GRCh37	8	133492604	133492604	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	117	279	0	ENST00000388996.4:c.176C>A	p.Ala59Asp	p.A59D	ENST00000388996	NM_004519.3	59	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS34943.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGGCCCCG	NONE	.	.	.	.	.	ENSP00000373648	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0.01)	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,missense_variant,p.Ala59Asp,ENST00000388996,;KCNQ3,missense_variant,p.Ala59Asp,ENST00000519445,;KCNQ3,upstream_gene_variant,,ENST00000519589,;	597	280	306	SUCCESS
RECQL4	9401	.	GRCh37	8	145737311	145737311	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779826649	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	50	0	ENST00000428558.2:c.3376G>A	p.Glu1126Lys	p.E1126K	ENST00000428558	NM_004260.3	1126	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	.	3376	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF1	.	.	ENSP00000475456	.	20/22	.	.	.	.	.	.	.	.	rs779826649	20/22	PASS	ENST00000428558	Transcript	1	.	ENSG00000160957	9949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.078)	.	tolerated(0.06)	.	.	RECQL4	HGNC	U3KQ17_HUMAN	.	UPI0000E5E124	SNV	RECQL4,missense_variant,p.Glu1126Lys,ENST00000428558,;MFSD3,downstream_gene_variant,,ENST00000301327,;GPT,downstream_gene_variant,,ENST00000528431,;GPT,downstream_gene_variant,,ENST00000394955,;RECQL4,downstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000524998,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.17,upstream_gene_variant,,ENST00000580385,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532237,;RECQL4,non_coding_transcript_exon_variant,,ENST00000531875,;RECQL4,non_coding_transcript_exon_variant,,ENST00000532269,;RECQL4,intron_variant,,ENST00000529424,;RECQL4,3_prime_UTR_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000534427,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000526749,;	3418	50	80	SUCCESS
LOXL2	4017	.	GRCh37	8	23217767	23217767	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	78	0	ENST00000389131.3:c.367T>G	p.Leu123Val	p.L123V	ENST00000389131	NM_002318.2	123	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS34864.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTAACCAGA	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF10,PROSITE_profiles:PS50287	.	.	ENSP00000373783	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000389131	Transcript	.	.	ENSG00000134013	6666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.648)	.	deleterious(0)	.	LOXL2_HUMAN	LOXL2	HGNC	E5RJL2_HUMAN,E5RI22_HUMAN,E5RFE2_HUMAN	.	UPI000012E7AB	SNV	LOXL2,missense_variant,p.Leu204Val,ENST00000524144,;LOXL2,missense_variant,p.Leu123Val,ENST00000389131,;LOXL2,missense_variant,p.Leu123Val,ENST00000524168,;LOXL2,missense_variant,p.Leu164Val,ENST00000520871,;LOXL2,missense_variant,p.Leu123Val,ENST00000518083,;LOXL2,intron_variant,,ENST00000523833,;RP11-177H13.2,intron_variant,,ENST00000519692,;	737	78	30	SUCCESS
PLAT	5327	.	GRCh37	8	42037780	42037780	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs762297581	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	38	78	0	ENST00000220809.4:c.1202A>G	p.Asp401Gly	p.D401G	ENST00000220809	NM_000930.3	401	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS6126.1	1202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGTCATCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF0,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001145,Superfamily_domains:SSF50494	.	.	ENSP00000220809	.	11/14	.	.	.	.	.	.	.	.	rs762297581	11/14	PASS	ENST00000220809	Transcript	.	.	ENSG00000104368	9051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.03)	.	TPA_HUMAN	PLAT	HGNC	Q6LBF5_HUMAN,E5RHG4_HUMAN,E5RGA1_HUMAN	.	UPI0000000DD4	SNV	PLAT,missense_variant,p.Asp401Gly,ENST00000220809,;PLAT,missense_variant,p.Asp401Gly,ENST00000429089,;PLAT,missense_variant,p.Asp275Gly,ENST00000429710,;PLAT,missense_variant,p.Asp355Gly,ENST00000352041,;PLAT,missense_variant,p.Asp312Gly,ENST00000524009,;PLAT,missense_variant,p.Asp338Gly,ENST00000519510,;PLAT,intron_variant,,ENST00000270189,;PLAT,non_coding_transcript_exon_variant,,ENST00000522812,;PLAT,downstream_gene_variant,,ENST00000521042,;PLAT,downstream_gene_variant,,ENST00000521647,;PLAT,downstream_gene_variant,,ENST00000524261,;	1459	78	88	SUCCESS
TRPA1	8989	.	GRCh37	8	72958795	72958795	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	54	0	ENST00000262209.4:c.2014A>C	p.Lys672Gln	p.K672Q	ENST00000262209	NM_007332.2	672	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS34908.1	2014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTTTTGG	NONE	.	.	hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5	.	.	ENSP00000262209	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.17)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Lys524Gln,ENST00000523582,;TRPA1,missense_variant,p.Lys672Gln,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000522271,;	2222	54	56	SUCCESS
SLC46A2	57864	.	GRCh37	9	115652684	115652684	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs376774946	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	55	123	0	ENST00000374228.4:c.278C>G	p.Ala93Gly	p.A93G	ENST00000374228	NM_033051.3	93	gCc/gGc	0	A:0	.	.	.	.	C	A/G	protein_coding	YES	CCDS6786.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAGGCGGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF41,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	A:0.0001	ENSP00000363345	.	1/4	.	.	.	.	.	.	.	.	rs376774946	1/4	PASS	ENST00000374228	Transcript	.	.	ENSG00000119457	16055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	TSCOT_HUMAN	SLC46A2	HGNC	.	.	UPI0000049F9E	SNV	SLC46A2,missense_variant,p.Ala93Gly,ENST00000374228,;RP11-408O19.5,downstream_gene_variant,,ENST00000605480,;SLC46A2,missense_variant,p.Ala93Gly,ENST00000491462,;	510	123	135	SUCCESS
EHMT1	79813	.	GRCh37	9	140671290	140671290	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763436491	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	8	122	0	ENST00000460843.1:c.2012C>T	p.Thr671Met	p.T671M	ENST00000460843	NM_024757.4	671	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS7050.2	2012	MUTECT|MUSE	.	CACAACGGGCA	NONE	byFrequency	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF290	.	.	ENSP00000417980	.	12/27	.	.	.	.	.	.	.	.	rs763436491	12/27	PASS	ENST00000460843	Transcript	.	.	ENSG00000181090	24650	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.925)	.	deleterious(0.05)	.	EHMT1_HUMAN	EHMT1	HGNC	Q71M33_HUMAN,A0PJE0_HUMAN	.	UPI000194EC2D	SNV	EHMT1,missense_variant,p.Thr640Met,ENST00000334856,;EHMT1,missense_variant,p.Thr671Met,ENST00000462484,;EHMT1,missense_variant,p.Thr671Met,ENST00000460843,;EHMT1,non_coding_transcript_exon_variant,,ENST00000371394,;EHMT1,downstream_gene_variant,,ENST00000465566,;EHMT1,missense_variant,p.Thr290Met,ENST00000462942,;	2039	122	111	SUCCESS
IFNB1	3456	.	GRCh37	9	21077917	21077917	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs201099689	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	37	0	ENST00000380232.2:c.-49C>T		p.*17*	ENST00000380232	NM_002176.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS6495.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGGCTTC	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000369581	A:0.001	1/1	.	.	.	.	.	.	.	.	rs201099689	1/1	PASS	ENST00000380232	Transcript	.	A:0.0002	ENSG00000171855	5434	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	IFNB_HUMAN	IFNB1	HGNC	Q5VWC9_HUMAN,B5BUQ5_HUMAN	.	UPI000004775D	SNV	IFNB1,5_prime_UTR_variant,,ENST00000380232,;	27	37	52	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971036	21971036	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs121913381	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	49	104	0	ENST00000304494.5:c.322G>T	p.Asp108Tyr	p.D108Y	ENST00000304494	NM_000077.4	108	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS56565.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCGCGCA	SITE|p.D108Y|c.322G>T|4,SITE|p.D108Y|c.322G>T|14,CODON|p.0?|c.1_471del471|15,CODON|p.D108H|c.322G>C|7,CODON|p.D108N|c.322G>A|5,BUFFER|p.G166R|c.496G>A|10,BUFFER|p.W110*|c.330G>A|9,BUFFER|p.W110*|c.330G>A|42,BUFFER|p.W110*|c.330G>A|11,BUFFER|p.L165L|c.495G>A|5,BUFFER|p.W110*|c.329G>A|13,BUFFER|p.W110*|c.329G>A|4,BUFFER|p.W110*|c.329G>A|6	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000418915	.	2/4	.	.	.	.	.	.	.	.	CM973278,rs121913381,CM071585,COSM12484,COSM13520,COSM13489,COSM753735,COSM753737,COSM753736,COSM753738,COSM1314728,COSM1674414	2/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,1,1,1,1,1,1,1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,missense_variant,p.Asp57Tyr,ENST00000578845,;CDKN2A,missense_variant,p.Arg122Leu,ENST00000579755,;CDKN2A,missense_variant,p.Asp57Tyr,ENST00000494262,;CDKN2A,missense_variant,p.Asp57Tyr,ENST00000498628,;CDKN2A,missense_variant,p.Arg122Leu,ENST00000530628,;CDKN2A,missense_variant,p.Asp108Tyr,ENST00000446177,;CDKN2A,missense_variant,p.Asp108Tyr,ENST00000304494,;CDKN2A,missense_variant,p.Arg163Leu,ENST00000361570,;CDKN2A,missense_variant,p.Asp108Tyr,ENST00000498124,;CDKN2A,missense_variant,p.Asp57Tyr,ENST00000479692,;CDKN2A,missense_variant,p.Asp108Tyr,ENST00000579122,;CDKN2A,missense_variant,p.Asp57Tyr,ENST00000497750,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	361	104	124	SUCCESS
AQP3	360	.	GRCh37	9	33442436	33442436	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	66	204	0	ENST00000297991.4:c.573G>A	p.Glu191=	p.E191=	ENST00000297991	NM_004925.4	191	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS6542.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCTCCAG	NONE	.	.	Prints_domain:PR02015,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,Pfam_domain:PF00230,Gene3D:1.20.1080.10,hmmpanther:PTHR19139:SF101,hmmpanther:PTHR19139	.	.	ENSP00000297991	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000297991	Transcript	.	.	ENSG00000165272	636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQP3_HUMAN	AQP3	HGNC	.	.	UPI0000125D1C	SNV	AQP3,synonymous_variant,p.%3D,ENST00000297991,;AQP3,non_coding_transcript_exon_variant,,ENST00000463983,;AQP3,non_coding_transcript_exon_variant,,ENST00000493581,;AQP3,non_coding_transcript_exon_variant,,ENST00000473153,;AQP3,non_coding_transcript_exon_variant,,ENST00000494313,;	654	204	183	SUCCESS
ISCA1	81689	.	GRCh37	9	88897392	88897393	+	5_prime_UTR_variant	5'UTR	INS	-	-	CGGTGCCT	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	121	34	157	0	ENST00000375991.4:c.-27_-20dup		p.*9*	ENST00000375991	NM_030940.3			0	.	.	.	.	.	CGGTGCCT	.	protein_coding	YES	CCDS35056.1	.	INDELOCATOR|VARSCANI	.	GCGCCCCGGTG	NONE	.	.	.	.	.	ENSP00000365159	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000375991	Transcript	.	.	ENSG00000135070	28660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ISCA1_HUMAN	ISCA1	HGNC	Q5TBE2_HUMAN	.	UPI000007259F	insertion	ISCA1,frameshift_variant,p.Ala43ThrfsTer13,ENST00000452279,;ISCA1,5_prime_UTR_variant,,ENST00000375991,;ISCA1,5_prime_UTR_variant,,ENST00000326094,;ISCA1,upstream_gene_variant,,ENST00000311534,;	52-53	157	155	SUCCESS
CAPN6	827	.	GRCh37	X	110490682	110490682	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	14	141	0	ENST00000324068.1:c.1657C>A	p.Pro553Thr	p.P553T	ENST00000324068	NM_014289.3	553	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14555.1	1657	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGAGAAC	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF281,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000317214	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000324068	Transcript	.	.	ENSG00000077274	1483	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.975)	.	tolerated(0.5)	.	CAN6_HUMAN	CAPN6	HGNC	F5GWQ6_HUMAN	.	UPI0000126EA1	SNV	CAPN6,missense_variant,p.Pro553Thr,ENST00000324068,;CAPN6,missense_variant,p.Pro298Thr,ENST00000541758,;	1825	141	123	SUCCESS
GRIA3	2892	.	GRCh37	X	122551286	122551286	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	119	134	0	ENST00000541091.1:c.1486A>C	p.Thr496Pro	p.T496P	ENST00000541091		496	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS14604.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATAACATTG	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	deleterious(0)	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,missense_variant,p.Thr512Pro,ENST00000371256,;GRIA3,missense_variant,p.Thr512Pro,ENST00000542149,;GRIA3,missense_variant,p.Thr512Pro,ENST00000264357,;GRIA3,missense_variant,p.Thr496Pro,ENST00000541091,;GRIA3,missense_variant,p.Thr512Pro,ENST00000371251,;	1826	134	276	SUCCESS
ZNF182	7569	.	GRCh37	X	47836301	47836301	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	66	0	ENST00000305127.6:c.1185T>G	p.Thr395=	p.T395=	ENST00000305127	NM_006962.1	395	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS35236.1	1185	MUTECT|MUSE	.	GTATGAGTTCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF218,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000380165	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000396965	Transcript	.	.	ENSG00000147118	13001	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN182_HUMAN	ZNF182	HGNC	.	.	UPI0000211F7D	SNV	ZNF182,synonymous_variant,p.%3D,ENST00000376943,;ZNF182,synonymous_variant,p.%3D,ENST00000305127,;ZNF182,synonymous_variant,p.%3D,ENST00000396965,;ZNF81,intron_variant,,ENST00000376950,;	1536	66	78	SUCCESS
ARHGEF9	23229	.	GRCh37	X	62974425	62974425	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	12	22	0	ENST00000253401.6:c.-233C>G		p.*78*	ENST00000253401	NM_015185.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35315.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATCACGGCAAA	NONE	.	.	.	.	.	ENSP00000253401	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000253401	Transcript	.	.	ENSG00000131089	14561	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHG9_HUMAN	ARHGEF9	HGNC	B1AMR3_HUMAN	.	UPI000006F940	SNV	ARHGEF9,5_prime_UTR_variant,,ENST00000374872,;ARHGEF9,5_prime_UTR_variant,,ENST00000374870,;ARHGEF9,5_prime_UTR_variant,,ENST00000253401,;ARHGEF9,intron_variant,,ENST00000374878,;ARHGEF9,intron_variant,,ENST00000437457,;ARHGEF9,non_coding_transcript_exon_variant,,ENST00000495564,;	569	22	14	SUCCESS
GPR123	0	.	GRCh37	10	134910566	134910566	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	23	0	ENST00000392607.3:c.92G>A	p.Cys31Tyr	p.C31Y	ENST00000392607	NM_001083909.1	31	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS41580.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCTCTGCCTCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261,Pfam_domain:PF00002	.	.	ENSP00000376384	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000392607	Transcript	.	.	ENSG00000197177	13838	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	GP123_HUMAN	GPR123	HGNC	.	.	UPI00003D41AD	SNV	GPR123,missense_variant,p.Cys751Tyr,ENST00000607359,;GPR123,missense_variant,p.Cys31Tyr,ENST00000392607,;	528	23	17	SUCCESS
TMEM26	219623	.	GRCh37	10	63170436	63170436	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	114	194	0	ENST00000399298.3:c.751A>C	p.Ser251Arg	p.S251R	ENST00000399298	NM_178505.6	251	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS41530.1	751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACTGTACT	NONE	.	.	Pfam_domain:PF09772,hmmpanther:PTHR22168:SF2,hmmpanther:PTHR22168	.	.	ENSP00000382237	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000399298	Transcript	.	.	ENSG00000196932	28550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	tolerated(0.06)	.	TMM26_HUMAN	TMEM26	HGNC	.	.	UPI00001C0B3F	SNV	TMEM26,missense_variant,p.Ser251Arg,ENST00000399298,;TMEM26,downstream_gene_variant,,ENST00000277749,;TMEM26,non_coding_transcript_exon_variant,,ENST00000507507,;TMEM26,missense_variant,p.Ser251Arg,ENST00000503886,;TMEM26,downstream_gene_variant,,ENST00000488505,;	1120	194	242	SUCCESS
GUCY1A2	2977	.	GRCh37	11	106888708	106888708	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	16	46	0	ENST00000526355.2:c.74A>T	p.Glu25Val	p.E25V	ENST00000526355	NM_000855.2	25	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS58170.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCCTCC	NONE	.	.	.	.	.	ENSP00000282249	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000282249	Transcript	.	.	ENSG00000152402	4684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.587)	.	deleterious_low_confidence(0)	.	GCYA2_HUMAN	GUCY1A2	HGNC	.	.	UPI000002A79C	SNV	GUCY1A2,missense_variant,p.Glu25Val,ENST00000282249,;GUCY1A2,missense_variant,p.Glu25Val,ENST00000526355,;GUCY1A2,missense_variant,p.Glu25Val,ENST00000347596,;	464	46	67	SUCCESS
EXPH5	23086	.	GRCh37	11	108382004	108382004	+	synonymous_variant	Silent	SNP	A	A	C	rs369244769	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	137	0	ENST00000265843.4:c.4230T>G	p.Ser1410=	p.S1410=	ENST00000265843	NM_015065.2	1410	tcT/tcG	0	G:0	.	.	.	.	C	S	protein_coding	YES	CCDS8341.1	4230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAGATTT	NONE	byCluster	.	hmmpanther:PTHR21469	.	G:0.0001	ENSP00000265843	.	6/6	.	.	.	.	.	.	.	.	rs369244769	6/6	PASS	ENST00000265843	Transcript	.	.	ENSG00000110723	30578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,synonymous_variant,p.%3D,ENST00000428840,;EXPH5,synonymous_variant,p.%3D,ENST00000443411,;EXPH5,synonymous_variant,p.%3D,ENST00000525344,;EXPH5,synonymous_variant,p.%3D,ENST00000526312,;EXPH5,synonymous_variant,p.%3D,ENST00000265843,;EXPH5,downstream_gene_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;	4341	137	103	SUCCESS
MUC5B	727897	.	GRCh37	11	1279361	1279381	+	frameshift_variant	Frame_Shift_Del	DEL	CCTGTGTGCCCGCCAGGGCAG	CCTGTGTGCCCGCCAGGGCAG	GCAA	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	CCTGTGTGCCCGCCAGGGCAG	CCTGTGTGCCCGCCAGGGCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	73	34	168	0	ENST00000529681.1:c.16483_16503delinsGCAA	p.Pro5495AlafsTer74	p.P5495Afs*74	ENST00000529681	NM_002458.2	5495	CCTGTGTGCCCGCCAGGGCAG/GCAA	0	.	.	.	.	.	GCAA	PVCPPGQ/AX	protein_coding	YES	CCDS44515.2	16483-16503	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCTGCCTGTGTGCCCGCCAGGGCAGGAGTC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	42/49	.	.	.	.	.	.	.	.	.	42/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	substitution	MUC5B,frameshift_variant,p.Pro5495AlafsTer74,ENST00000529681,;MUC5B,frameshift_variant,p.Pro40AlafsTer74,ENST00000526859,;MUC5B,frameshift_variant,p.Pro5498AlafsTer74,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000527802,;	16541-16561	168	107	SUCCESS
MUC5B	727897	.	GRCh37	11	1279381	1279381	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	144	0	ENST00000529681.1:c.16503G>A	p.Gln5501=	p.Q5501=	ENST00000529681	NM_002458.2	5501	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS44515.2	16503	SOMATICSNIPER|VARSCANS	.	GGGCAGGAGTC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	42/49	.	.	.	.	.	.	.	.	.	42/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000526859,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000527802,;	16561	144	110	SUCCESS
APLNR	187	.	GRCh37	11	57004140	57004140	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	39	0	ENST00000257254.3:c.339G>A	p.Met113Ile	p.M113I	ENST00000257254		113	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7950.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTACATGTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF2,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000475344	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000606794	Transcript	.	.	ENSG00000134817	339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	APJ_HUMAN	APLNR	HGNC	.	.	UPI0000001622	SNV	APLNR,missense_variant,p.Met113Ile,ENST00000606794,;APLNR,missense_variant,p.Met113Ile,ENST00000257254,;	536	39	48	SUCCESS
CD5	921	.	GRCh37	11	60893257	60893257	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	43	0	ENST00000347785.3:c.1434G>T	p.Gln478His	p.Q478H	ENST00000347785	NM_014207.3	478	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS8000.1	1434	MUTECT|MUSE	.	ATGCAGCCTGA	NONE	.	.	Prints_domain:PR01409	.	.	ENSP00000342681	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000347785	Transcript	.	.	ENSG00000110448	1685	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.052)	.	tolerated(0.09)	.	CD5_HUMAN	CD5	HGNC	H6D9U9_HUMAN	.	UPI000013D472	SNV	CD5,missense_variant,p.Gln478His,ENST00000347785,;VPS37C,downstream_gene_variant,,ENST00000301765,;	1600	43	40	SUCCESS
FZD4	8322	.	GRCh37	11	86665880	86665881	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	111	25	130	0	ENST00000531380.1:c.247dup	p.Thr83AsnfsTer47	p.T83Nfs*47	ENST00000531380	NM_012193.3	83	aca/aAca	0	.	.	.	.	.	T	T/NX	protein_coding	YES	CCDS8279.1	247-248	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGTGTGAAA	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF23,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000434034	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000531380	Transcript	.	.	ENSG00000174804	4042	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FZD4_HUMAN	FZD4	HGNC	Q8TDT8_HUMAN	.	UPI00000701D4	insertion	FZD4,frameshift_variant,p.Thr83AsnfsTer47,ENST00000531380,;PRSS23,downstream_gene_variant,,ENST00000533902,;RP11-736K20.6,upstream_gene_variant,,ENST00000499504,;RP11-736K20.6,upstream_gene_variant,,ENST00000531827,;PRSS23,downstream_gene_variant,,ENST00000531521,;PRSS23,downstream_gene_variant,,ENST00000528769,;PRSS23,downstream_gene_variant,,ENST00000532234,;	553-554	130	136	SUCCESS
MCF2L	23263	.	GRCh37	13	113731386	113731386	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs779731261	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	407	164	301	0	ENST00000375608.3:c.1612del	p.Gln538ArgfsTer17	p.Q538Rfs*17	ENST00000375608		537	ttC/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS45070.2	1521	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCTTCCAGAA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115	.	.	ENSP00000440374	.	13/30	.	.	.	.	.	.	.	.	rs779731261	13/30	PASS	ENST00000535094	Transcript	.	.	ENSG00000126217	14576	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	deletion	MCF2L,frameshift_variant,p.Gln514ArgfsTer17,ENST00000434480,;MCF2L,frameshift_variant,p.Gln506ArgfsTer17,ENST00000423482,;MCF2L,frameshift_variant,p.Gln538ArgfsTer17,ENST00000442652,;MCF2L,frameshift_variant,p.Gln506ArgfsTer17,ENST00000375597,;MCF2L,frameshift_variant,p.Gln541ArgfsTer17,ENST00000397030,;MCF2L,frameshift_variant,p.Gln169ArgfsTer17,ENST00000397017,;MCF2L,frameshift_variant,p.Gln512ArgfsTer17,ENST00000375601,;MCF2L,frameshift_variant,p.Gln538ArgfsTer17,ENST00000375608,;MCF2L,frameshift_variant,p.Gln508ArgfsTer17,ENST00000535094,;MCF2L,frameshift_variant,p.Gln512ArgfsTer17,ENST00000421756,;MCF2L,frameshift_variant,p.Gln565ArgfsTer17,ENST00000375604,;MCF2L,downstream_gene_variant,,ENST00000475524,;	1680	301	571	SUCCESS
KATNAL1	84056	.	GRCh37	13	30814630	30814630	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	82	0	ENST00000380615.3:c.693T>C	p.Pro231=	p.P231=	ENST00000380615	NM_032116.4	231	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS31956.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCAGGCAT	NONE	.	.	HAMAP:MF_03023,HAMAP:MF_03024,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF65,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000369989	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000380615	Transcript	.	.	ENSG00000102781	28361	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KATL1_HUMAN	KATNAL1	HGNC	Q5T558_HUMAN,A2A3H2_HUMAN	.	UPI000006F05B	SNV	KATNAL1,synonymous_variant,p.%3D,ENST00000380617,;KATNAL1,synonymous_variant,p.%3D,ENST00000380615,;	861	82	88	SUCCESS
MEDAG	84935	.	GRCh37	13	31495898	31495898	+	synonymous_variant	Silent	SNP	G	G	A	rs375543579	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	72	173	0	ENST00000380482.4:c.702G>A	p.Thr234=	p.T234=	ENST00000380482	NM_032849.3	234	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9338.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGATTAA	NONE	.	.	.	.	.	ENSP00000369849	.	4/5	.	.	.	.	.	.	.	.	rs375543579,COSM1366317	4/5	PASS	ENST00000380482	Transcript	.	.	ENSG00000102802	25926	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MEDAG_HUMAN	MEDAG	HGNC	.	.	UPI000013C771	SNV	MEDAG,synonymous_variant,p.%3D,ENST00000380482,;MEDAG,intron_variant,,ENST00000428944,;TEX26-AS1,intron_variant,,ENST00000586464,;TEX26-AS1,intron_variant,,ENST00000593246,;TEX26-AS1,intron_variant,,ENST00000590721,;TEX26-AS1,intron_variant,,ENST00000590344,;TEX26-AS1,intron_variant,,ENST00000585870,;TEX26-AS1,intron_variant,,ENST00000451495,;TEX26-AS1,intron_variant,,ENST00000592950,;TEX26-AS1,intron_variant,,ENST00000588726,;TEX26-AS1,intron_variant,,ENST00000586973,;TEX26-AS1,downstream_gene_variant,,ENST00000588425,;	1027	173	189	SUCCESS
REM2	161253	.	GRCh37	14	23355255	23355255	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1412604370	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	44	54	0	ENST00000267396.4:c.542G>A	p.Arg181Gln	p.R181Q	ENST00000267396	NM_173527.2	181	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS45082.1	542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGGGACC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF197,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,PIRSF_domain:PIRSF038017,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	.	ENSP00000267396	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000267396	Transcript	.	.	ENSG00000139890	20248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	REM2_HUMAN	REM2	HGNC	.	.	UPI00000716C5	SNV	REM2,missense_variant,p.Arg181Gln,ENST00000267396,;REM2,synonymous_variant,p.%3D,ENST00000536884,;LRP10,downstream_gene_variant,,ENST00000359591,;	665	54	101	SUCCESS
NOVA1	4857	.	GRCh37	14	26949340	26949340	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	52	0	ENST00000539517.2:c.290A>T	p.Glu97Val	p.E97V	ENST00000539517	NM_002515.2	97	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS32061.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTCAGTA	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Pfam_domain:PF00013,Gene3D:3.30.1370.10,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288,PROSITE_profiles:PS50084	.	.	ENSP00000438875	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,missense_variant,p.Glu97Val,ENST00000465357,;NOVA1,missense_variant,p.Glu97Val,ENST00000547619,;NOVA1,missense_variant,p.Glu60Val,ENST00000549571,;NOVA1,missense_variant,p.Glu97Val,ENST00000344429,;NOVA1,missense_variant,p.Glu97Val,ENST00000539517,;NOVA1,missense_variant,p.Glu97Val,ENST00000574031,;NOVA1,missense_variant,p.Glu56Val,ENST00000449198,;NOVA1,5_prime_UTR_variant,,ENST00000549146,;NOVA1,5_prime_UTR_variant,,ENST00000347476,;NOVA1,5_prime_UTR_variant,,ENST00000267422,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;	608	52	74	SUCCESS
GABRA5	2558	.	GRCh37	15	27126102	27126102	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	101	0	ENST00000335625.5:c.196C>A	p.Pro66Thr	p.P66T	ENST00000335625	NM_000810.3	66	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS45194.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGGCCCGGG	CODON|p.R65L|c.194G>T|3	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000335592	.	4/11	.	.	.	.	.	.	.	.	COSM1135642	4/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,missense_variant,p.Pro66Thr,ENST00000355395,;GABRA5,missense_variant,p.Pro34Thr,ENST00000554083,;GABRA5,missense_variant,p.Pro66Thr,ENST00000554038,;GABRA5,missense_variant,p.Pro66Thr,ENST00000335625,;GABRA5,missense_variant,p.Pro66Thr,ENST00000554596,;GABRA5,missense_variant,p.Pro66Thr,ENST00000554599,;GABRA5,missense_variant,p.Pro34Thr,ENST00000555182,;GABRA5,missense_variant,p.Pro66Thr,ENST00000400081,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;GABRA5,downstream_gene_variant,,ENST00000557484,;	1084	101	75	SUCCESS
CHRNA7	1139	.	GRCh37	15	32455518	32455518	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	204	379	0	ENST00000306901.3:c.972G>A	p.Gly324=	p.G324=	ENST00000306901	NM_000746.5	324	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS53924.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGGGGCAA	NONE	.	.	Superfamily_domains:SSF90112,Gene3D:1.20.120.370,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	.	.	ENSP00000407546	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000454250	Transcript	1	.	ENSG00000175344	1960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,synonymous_variant,p.%3D,ENST00000454250,;CHRNA7,synonymous_variant,p.%3D,ENST00000455693,;CHRNA7,synonymous_variant,p.%3D,ENST00000306901,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;	1166	379	394	SUCCESS
HERC1	8925	.	GRCh37	15	63922816	63922816	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	4	83	0	ENST00000443617.2:c.12815C>A	p.Pro4272Gln	p.P4272Q	ENST00000443617	NM_003922.3	4272	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS45277.1	12815	MUTECT|MUSE	.	CCTCTGGCAAG	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000390158	.	69/78	.	.	.	.	.	.	.	.	.	69/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Pro4272Gln,ENST00000443617,;HERC1,3_prime_UTR_variant,,ENST00000561359,;HERC1,non_coding_transcript_exon_variant,,ENST00000561436,;HERC1,non_coding_transcript_exon_variant,,ENST00000561348,;HERC1,downstream_gene_variant,,ENST00000560897,;HERC1,upstream_gene_variant,,ENST00000558324,;	12903	83	101	SUCCESS
FAM103A1	0	.	GRCh37	15	83658816	83658816	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	31	127	0	ENST00000304191.3:c.354C>T	p.Tyr118=	p.Y118=	ENST00000304191	NM_031452.3	118	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS10321.1	354	RADIA|VARSCANS	.	TACTACTGATA	NONE	.	.	hmmpanther:PTHR12381	.	.	ENSP00000307181	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304191	Transcript	.	.	ENSG00000169612	31022	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAM_HUMAN	FAM103A1	HGNC	.	.	UPI00000467E0	SNV	FAM103A1,synonymous_variant,p.%3D,ENST00000304191,;C15orf40,intron_variant,,ENST00000514272,;C15orf40,intron_variant,,ENST00000510873,;C15orf40,intron_variant,,ENST00000538348,;C15orf40,downstream_gene_variant,,ENST00000451195,;RP11-382A20.5,intron_variant,,ENST00000566841,;HOMER2,upstream_gene_variant,,ENST00000560374,;HOMER2,upstream_gene_variant,,ENST00000500334,;C15orf40,downstream_gene_variant,,ENST00000512638,;	575	127	116	SUCCESS
TIGD7	91151	.	GRCh37	16	3349506	3349506	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	7	135	0	ENST00000396862.1:c.1109A>G	p.Lys370Arg	p.K370R	ENST00000396862	NM_033208.3	370	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10500.1	1109	MUTECT|MUSE	.	TAATTTTGGAA	NONE	.	.	hmmpanther:PTHR19303:SF224,hmmpanther:PTHR19303,Pfam_domain:PF03184	.	.	ENSP00000380071	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396862	Transcript	.	.	ENSG00000140993	18331	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.894)	.	tolerated(0.29)	.	TIGD7_HUMAN	TIGD7	HGNC	I3L2A8_HUMAN	.	UPI0000072536	SNV	TIGD7,missense_variant,p.Lys370Arg,ENST00000268674,;TIGD7,missense_variant,p.Lys370Arg,ENST00000396862,;ZNF263,3_prime_UTR_variant,,ENST00000575332,;ZNF263,intron_variant,,ENST00000574674,;TIGD7,downstream_gene_variant,,ENST00000573608,;TIGD7,downstream_gene_variant,,ENST00000570634,;TIGD7,downstream_gene_variant,,ENST00000573695,;TIGD7,downstream_gene_variant,,ENST00000576104,;TIGD7,downstream_gene_variant,,ENST00000571748,;TIGD7,downstream_gene_variant,,ENST00000572297,;TIGD7,downstream_gene_variant,,ENST00000574598,;	2938	135	206	SUCCESS
HYDIN	54768	.	GRCh37	16	71101182	71101182	+	intron_variant	Intron	SNP	G	G	A	rs778708788	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	21	24	0	ENST00000393567.2:c.2075+11C>T		p.*692*	ENST00000393567	NM_001270974.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59269.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGGGAGC	NONE	byFrequency	.	.	.	.	ENSP00000377197	.	.	.	.	.	.	.	.	.	.	rs778708788	.	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODIFIER	15/85	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Pro713Ser,ENST00000288168,;HYDIN,intron_variant,,ENST00000448089,;HYDIN,intron_variant,,ENST00000393550,;HYDIN,intron_variant,,ENST00000448691,;HYDIN,intron_variant,,ENST00000393567,;HYDIN,intron_variant,,ENST00000541601,;HYDIN,intron_variant,,ENST00000542890,;HYDIN,intron_variant,,ENST00000538248,;HYDIN,intron_variant,,ENST00000321489,;HYDIN,downstream_gene_variant,,ENST00000543639,;HYDIN,intron_variant,,ENST00000545230,;HYDIN,intron_variant,,ENST00000539447,;HYDIN,intron_variant,,ENST00000393552,;HYDIN,upstream_gene_variant,,ENST00000540892,;	.	24	39	SUCCESS
INTS2	57508	.	GRCh37	17	59958425	59958425	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201173583	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	53	75	0	ENST00000444766.3:c.2221C>T	p.Arg741Trp	p.R741W	ENST00000444766	NM_020748.2	741	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS45750.1	2221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCGTAGCA	NONE	byFrequency|byCluster	.	Pfam_domain:PF14750	.	.	ENSP00000414237	.	17/25	.	.	.	.	.	.	.	.	rs201173583	17/25	PASS	ENST00000444766	Transcript	.	.	ENSG00000108506	29241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.1)	.	INT2_HUMAN	INTS2	HGNC	J3KRH0_HUMAN,J3KMZ7_HUMAN	.	UPI0000E5A03A	SNV	INTS2,missense_variant,p.Arg741Trp,ENST00000444766,;INTS2,missense_variant,p.Arg733Trp,ENST00000251334,;INTS2,non_coding_transcript_exon_variant,,ENST00000583822,;INTS2,non_coding_transcript_exon_variant,,ENST00000584967,;	2297	75	178	SUCCESS
DCAF7	10238	.	GRCh37	17	61660940	61660940	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	89	80	0	ENST00000431926.1:c.435+3729G>T		p.*145*	ENST00000431926				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGGATGT	NONE	.	.	.	.	.	ENSP00000403920	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000415273	Transcript	.	.	ENSG00000136485	30915	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DCAF7	HGNC	B4E039_HUMAN	.	UPI00017A838F	SNV	DCAF7,missense_variant,p.Arg202Leu,ENST00000310827,;DCAF7,intron_variant,,ENST00000431926,;DCAF7,intron_variant,,ENST00000415273,;DCAF7,non_coding_transcript_exon_variant,,ENST00000585252,;DCAF7,non_coding_transcript_exon_variant,,ENST00000577702,;DCAF7,non_coding_transcript_exon_variant,,ENST00000582103,;	.	81	163	SUCCESS
DDX5	1655	.	GRCh37	17	62502384	62502384	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	17	0	ENST00000225792.5:c.-147C>A		p.*49*	ENST00000225792	NM_004396.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11659.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTAGAGACC	NONE	.	.	.	.	.	ENSP00000225792	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000225792	Transcript	.	.	ENSG00000108654	2746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX5_HUMAN	DDX5	HGNC	J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN	.	UPI000003B456	SNV	DDX5,splice_region_variant,,ENST00000584279,;DDX5,splice_region_variant,,ENST00000585111,;DDX5,splice_region_variant,,ENST00000577922,;DDX5,5_prime_UTR_variant,,ENST00000585060,;DDX5,5_prime_UTR_variant,,ENST00000450599,;DDX5,5_prime_UTR_variant,,ENST00000225792,;DDX5,intron_variant,,ENST00000581806,;DDX5,intron_variant,,ENST00000581697,;DDX5,upstream_gene_variant,,ENST00000578804,;DDX5,upstream_gene_variant,,ENST00000583212,;CEP95,upstream_gene_variant,,ENST00000553412,;DDX5,upstream_gene_variant,,ENST00000583239,;DDX5,upstream_gene_variant,,ENST00000579091,;CEP95,upstream_gene_variant,,ENST00000556440,;DDX5,upstream_gene_variant,,ENST00000578190,;CEP95,upstream_gene_variant,,ENST00000581056,;CEP95,upstream_gene_variant,,ENST00000580188,;CEP95,upstream_gene_variant,,ENST00000582724,;DDX5,upstream_gene_variant,,ENST00000579996,;DDX5,upstream_gene_variant,,ENST00000577787,;MIR5047,upstream_gene_variant,,ENST00000579212,;DDX5,upstream_gene_variant,,ENST00000580026,;DDX5,downstream_gene_variant,,ENST00000584500,;DDX5,downstream_gene_variant,,ENST00000583699,;DDX5,upstream_gene_variant,,ENST00000581237,;DDX5,upstream_gene_variant,,ENST00000578491,;DDX5,5_prime_UTR_variant,,ENST00000540698,;DDX5,5_prime_UTR_variant,,ENST00000578400,;DDX5,5_prime_UTR_variant,,ENST00000581693,;DDX5,non_coding_transcript_exon_variant,,ENST00000585223,;DDX5,non_coding_transcript_exon_variant,,ENST00000581230,;DDX5,upstream_gene_variant,,ENST00000584549,;CEP95,upstream_gene_variant,,ENST00000579860,;DDX5,upstream_gene_variant,,ENST00000579461,;DDX5,upstream_gene_variant,,ENST00000578758,;CEP95,upstream_gene_variant,,ENST00000553956,;DDX5,upstream_gene_variant,,ENST00000582326,;DDX5,upstream_gene_variant,,ENST00000583894,;DDX5,upstream_gene_variant,,ENST00000581551,;DDX5,upstream_gene_variant,,ENST00000583562,;DDX5,upstream_gene_variant,,ENST00000583201,;DDX5,upstream_gene_variant,,ENST00000585317,;	256	17	41	SUCCESS
TNRC6C	57690	.	GRCh37	17	76100877	76100877	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752785281	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	51	1	ENST00000301624.4:c.5024C>T	p.Pro1675Leu	p.P1675L	ENST00000301624	NM_018996.3	1675	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45799.1	5132	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CACGCCGCTAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	.	.	ENSP00000336783	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000335749	Transcript	.	.	ENSG00000078687	29318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0)	.	.	TNRC6C	HGNC	K7ELY5_HUMAN,K7EKN9_HUMAN,G3XAB8_HUMAN	.	UPI0000EE5F80	SNV	TNRC6C,missense_variant,p.Pro1675Leu,ENST00000301624,;TNRC6C,missense_variant,p.Pro1711Leu,ENST00000544502,;TNRC6C,missense_variant,p.Pro1675Leu,ENST00000588061,;TNRC6C,missense_variant,p.Pro1711Leu,ENST00000588847,;TNRC6C,missense_variant,p.Pro1711Leu,ENST00000335749,;TNRC6C,missense_variant,p.Pro1675Leu,ENST00000541771,;TNRC6C-AS1,downstream_gene_variant,,ENST00000589217,;TNRC6C-AS1,downstream_gene_variant,,ENST00000374976,;TNRC6C-AS1,downstream_gene_variant,,ENST00000592939,;TNRC6C,downstream_gene_variant,,ENST00000592566,;AC021593.1,upstream_gene_variant,,ENST00000544529,;	5701	52	97	SUCCESS
MYOM1	8736	.	GRCh37	18	3100192	3100192	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756213299	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	45	134	0	ENST00000356443.4:c.3692G>A	p.Arg1231His	p.R1231H	ENST00000356443	NM_019856.1	1231	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS45824.1	3692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAACGTTTC	NONE	byFrequency	.	hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900	.	.	ENSP00000348821	.	25/38	.	.	.	.	.	.	.	.	rs756213299	25/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,missense_variant,p.Arg1231His,ENST00000356443,;MYOM1,missense_variant,p.Arg1231His,ENST00000400569,;MYOM1,missense_variant,p.Arg1135His,ENST00000261606,;	4026	134	170	SUCCESS
C19orf80	0	.	GRCh37	19	11350522	11350522	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1599263350	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	67	135	0	ENST00000252453.8:c.209A>G	p.Tyr70Cys	p.Y70C	ENST00000252453	NM_018687.6	70	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS54220.1	209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTATGGCC	NONE	.	.	hmmpanther:PTHR21463	.	.	ENSP00000252453	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252453	Transcript	.	.	ENSG00000130173	24933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	BETAT_HUMAN	C19orf80	HGNC	K7EIY2_HUMAN	.	UPI000003F538	SNV	C19orf80,missense_variant,p.Tyr70Cys,ENST00000252453,;C19orf80,intron_variant,,ENST00000591200,;DOCK6,intron_variant,,ENST00000294618,;DOCK6,upstream_gene_variant,,ENST00000590680,;C19orf80,upstream_gene_variant,,ENST00000587543,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000585904,;DOCK6,upstream_gene_variant,,ENST00000591750,;	228	135	126	SUCCESS
GIPC1	10755	.	GRCh37	19	14591536	14591536	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758287191	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	72	0	ENST00000345425.2:c.343G>A	p.Gly115Ser	p.G115S	ENST00000345425	NM_202470.2	115	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12310.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCCCCA	NONE	.	.	hmmpanther:PTHR12259,hmmpanther:PTHR12259:SF4,PIRSF_domain:PIRSF038083,Superfamily_domains:SSF50156	.	.	ENSP00000376753	.	5/9	.	.	.	.	.	.	.	.	rs758287191	5/9	PASS	ENST00000393033	Transcript	.	.	ENSG00000123159	1226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.11)	.	GIPC1_HUMAN	GIPC1	HGNC	K7ESN1_HUMAN,K7ELJ2_HUMAN,K7EIT0_HUMAN	.	UPI000012B4BB	SNV	GIPC1,missense_variant,p.Gly18Ser,ENST00000591349,;GIPC1,missense_variant,p.Gly115Ser,ENST00000393033,;GIPC1,missense_variant,p.Gly18Ser,ENST00000587210,;GIPC1,missense_variant,p.Gly18Ser,ENST00000393029,;GIPC1,missense_variant,p.Gly18Ser,ENST00000393028,;GIPC1,missense_variant,p.Gly18Ser,ENST00000587969,;GIPC1,missense_variant,p.Gly115Ser,ENST00000345425,;GIPC1,missense_variant,p.Gly115Ser,ENST00000586027,;GIPC1,downstream_gene_variant,,ENST00000591245,;GIPC1,upstream_gene_variant,,ENST00000589631,;GIPC1,downstream_gene_variant,,ENST00000587934,;GIPC1,missense_variant,p.Gly18Ser,ENST00000589497,;GIPC1,upstream_gene_variant,,ENST00000585606,;GIPC1,downstream_gene_variant,,ENST00000587811,;	613	72	90	SUCCESS
CHAF1A	10036	.	GRCh37	19	4428721	4428721	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	34	68	0	ENST00000301280.5:c.1438G>T	p.Ala480Ser	p.A480S	ENST00000301280	NM_005483.2	480	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32875.1	1438	RADIA|MUTECT|MUSE	.	TCCTGGCCCCT	NONE	.	.	hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0	.	.	ENSP00000301280	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000301280	Transcript	.	.	ENSG00000167670	1910	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CAF1A_HUMAN	CHAF1A	HGNC	.	.	UPI00002030F8	SNV	CHAF1A,missense_variant,p.Ala480Ser,ENST00000301280,;CHAF1A,missense_variant,p.Ala246Ser,ENST00000587739,;CTB-50L17.5,downstream_gene_variant,,ENST00000590159,;CHAF1A,upstream_gene_variant,,ENST00000587368,;CHAF1A,3_prime_UTR_variant,,ENST00000585371,;	1539	68	62	SUCCESS
CHAF1A	10036	.	GRCh37	19	4428728	4428728	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373148905	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	35	65	0	ENST00000301280.5:c.1445G>T	p.Arg482Leu	p.R482L	ENST00000301280	NM_005483.2	482	cGg/cTg	0	C:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS32875.1	1445	RADIA|MUTECT|MUSE	.	CCCTCGGCGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0	.	C:0.0001	ENSP00000301280	.	8/15	.	.	.	.	.	.	.	.	rs373148905,COSM1248184	8/15	PASS	ENST00000301280	Transcript	.	.	ENSG00000167670	1910	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.006)	.	tolerated(1)	0,1	CAF1A_HUMAN	CHAF1A	HGNC	.	.	UPI00002030F8	SNV	CHAF1A,missense_variant,p.Arg482Leu,ENST00000301280,;CHAF1A,missense_variant,p.Arg248Leu,ENST00000587739,;CTB-50L17.5,downstream_gene_variant,,ENST00000590159,;CHAF1A,upstream_gene_variant,,ENST00000587368,;CHAF1A,3_prime_UTR_variant,,ENST00000585371,;	1546	65	59	SUCCESS
VCAM1	7412	.	GRCh37	1	101194785	101194785	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	69	149	0	ENST00000294728.2:c.1051A>G	p.Ile351Val	p.I351V	ENST00000294728	NM_001078.3	351	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS773.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGATAGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000294728	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000294728	Transcript	.	.	ENSG00000162692	12663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.15)	.	VCAM1_HUMAN	VCAM1	HGNC	Q68DC4_HUMAN,G0ZI12_HUMAN,G0ZFQ0_HUMAN,F8UV74_HUMAN,F8UU18_HUMAN,F2YYR6_HUMAN	.	UPI0000000E06	SNV	VCAM1,missense_variant,p.Ile351Val,ENST00000294728,;VCAM1,missense_variant,p.Ile289Val,ENST00000370119,;VCAM1,intron_variant,,ENST00000347652,;VCAM1,intron_variant,,ENST00000370115,;	1152	149	188	SUCCESS
SPAG17	200162	.	GRCh37	1	118584651	118584651	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	76	0	ENST00000336338.5:c.2829G>A	p.Glu943=	p.E943=	ENST00000336338	NM_206996.2	943	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS899.1	2829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21963	.	.	ENSP00000337804	.	21/49	.	.	.	.	.	.	.	.	.	21/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,synonymous_variant,p.%3D,ENST00000336338,;SPAG17,upstream_gene_variant,,ENST00000486589,;SPAG17,upstream_gene_variant,,ENST00000470550,;	2895	76	90	SUCCESS
RP3-467K16.2	0	.	GRCh37	1	15653709	15653709	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	70	163	0	ENST00000428747.1:n.2572C>A		p.*858*	ENST00000428747				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGACCCT	NONE	.	.	.	.	.	ENSP00000365163	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	SNV	FHAD1,intron_variant,,ENST00000375997,;FHAD1,intron_variant,,ENST00000524761,;FHAD1,intron_variant,,ENST00000401090,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000358897,;FHAD1,intron_variant,,ENST00000375995,;FHAD1,intron_variant,,ENST00000375998,;FHAD1,intron_variant,,ENST00000375999,;RP3-467K16.2,non_coding_transcript_exon_variant,,ENST00000428747,;FHAD1,intron_variant,,ENST00000471347,;FHAD1,intron_variant,,ENST00000472131,;FHAD1,intron_variant,,ENST00000375996,;FHAD1,intron_variant,,ENST00000459961,;	.	164	114	SUCCESS
TOR3A	64222	.	GRCh37	1	179051242	179051242	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	25	0	ENST00000367627.3:c.-22G>A		p.*8*	ENST00000367627	NM_022371.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1329.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGTCCCG	NONE	.	.	.	.	.	ENSP00000356599	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000367627	Transcript	.	.	ENSG00000186283	11997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOR3A_HUMAN	TOR3A	HGNC	.	.	UPI000006F204	SNV	TOR3A,5_prime_UTR_variant,,ENST00000367627,;TOR3A,5_prime_UTR_variant,,ENST00000367625,;TOR3A,5_prime_UTR_variant,,ENST00000352445,;TOR3A,upstream_gene_variant,,ENST00000447595,;TOR3A,upstream_gene_variant,,ENST00000495145,;TOR3A,upstream_gene_variant,,ENST00000472001,;TOR3A,5_prime_UTR_variant,,ENST00000483887,;	731	25	27	SUCCESS
ATF3	467	.	GRCh37	1	212792748	212792748	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	39	76	0	ENST00000341491.4:c.397G>A	p.Glu133Lys	p.E133K	ENST00000341491	NM_001040619.2	133	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1506.1	397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGAGGAG	NONE	.	.	Prints_domain:PR00042,Superfamily_domains:SSF57959,SMART_domains:SM00338,Pfam_domain:PF00170,Gene3D:1.20.5.170,hmmpanther:PTHR23351:SF23,hmmpanther:PTHR23351,PROSITE_profiles:PS50217,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000344352	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000341491	Transcript	.	.	ENSG00000162772	785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	ATF3_HUMAN	ATF3	HGNC	Q5VTZ4_HUMAN	.	UPI000012622E	SNV	ATF3,missense_variant,p.Glu133Lys,ENST00000366981,;ATF3,missense_variant,p.Glu133Lys,ENST00000341491,;ATF3,missense_variant,p.Glu76Lys,ENST00000366985,;ATF3,missense_variant,p.Glu133Lys,ENST00000366987,;ATF3,3_prime_UTR_variant,,ENST00000366983,;ATF3,downstream_gene_variant,,ENST00000336937,;RP11-338C15.5,downstream_gene_variant,,ENST00000427949,;RN7SL512P,upstream_gene_variant,,ENST00000578962,;ATF3,non_coding_transcript_exon_variant,,ENST00000492118,;ATF3,downstream_gene_variant,,ENST00000465155,;ATF3,3_prime_UTR_variant,,ENST00000464547,;	662	76	118	SUCCESS
DISP1	84976	.	GRCh37	1	223116176	223116176	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1226758143	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	6	104	0	ENST00000284476.6:c.11G>A	p.Ser4Asn	p.S4N	ENST00000284476	NM_032890.3	4	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS1536.1	11	MUTECT|MUSE	.	TATGAGCAATG	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115	.	.	ENSP00000284476	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000284476	Transcript	.	.	ENSG00000154309	19711	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.16)	.	DISP1_HUMAN	DISP1	HGNC	.	.	UPI000016069D	SNV	DISP1,missense_variant,p.Ser4Asn,ENST00000284476,;DISP1,missense_variant,p.Ser4Asn,ENST00000360254,;DISP1,intron_variant,,ENST00000495684,;DISP1,non_coding_transcript_exon_variant,,ENST00000482856,;NDUFB1P2,upstream_gene_variant,,ENST00000449477,;	175	104	139	SUCCESS
MYOM3	127294	.	GRCh37	1	24388492	24388492	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1240062031	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	42	68	1	ENST00000374434.3:c.3878T>C	p.Leu1293Pro	p.L1293P	ENST00000374434	NM_152372.3	1293	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41281.1	3878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGAGTG	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF35,hmmpanther:PTHR19900	.	.	ENSP00000363557	.	33/37	.	.	.	.	.	.	.	.	.	33/37	PASS	ENST00000374434	Transcript	.	.	ENSG00000142661	26679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYOM3_HUMAN	MYOM3	HGNC	.	.	UPI0000203A5D	SNV	MYOM3,missense_variant,p.Leu1293Pro,ENST00000374434,;MYOM3,missense_variant,p.Leu186Pro,ENST00000338909,;MYOM3,missense_variant,p.Leu1296Pro,ENST00000330966,;MYOM3,downstream_gene_variant,,ENST00000329601,;RP11-293P20.2,intron_variant,,ENST00000439239,;RP11-293P20.4,upstream_gene_variant,,ENST00000429191,;MYOM3,intron_variant,,ENST00000448831,;	4041	69	53	SUCCESS
RHBDL2	54933	.	GRCh37	1	39352191	39352191	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	70	0	ENST00000289248.2:c.897A>G	p.Leu299=	p.L299=	ENST00000289248		299	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS30680.1	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATAGGAA	NONE	.	.	PIRSF_domain:PIRSF037470,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF3,Transmembrane_helices:TMhelix	.	.	ENSP00000289248	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000289248	Transcript	.	.	ENSG00000158315	16083	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHBL2_HUMAN	RHBDL2	HGNC	.	.	UPI0000048DB4	SNV	RHBDL2,synonymous_variant,p.%3D,ENST00000538156,;RHBDL2,synonymous_variant,p.%3D,ENST00000289248,;RHBDL2,synonymous_variant,p.%3D,ENST00000372985,;RHBDL2,synonymous_variant,p.%3D,ENST00000372990,;GJA9,upstream_gene_variant,,ENST00000454994,;GJA9,upstream_gene_variant,,ENST00000357771,;RP5-864K19.4,intron_variant,,ENST00000433671,;MYCBP,upstream_gene_variant,,ENST00000489803,;MYCBP,upstream_gene_variant,,ENST00000489575,;	1906	70	63	SUCCESS
NASP	4678	.	GRCh37	1	46080777	46080777	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	67	129	0	ENST00000350030.3:c.1759C>T	p.His587Tyr	p.H587Y	ENST00000350030	NM_002482.3	587	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS524.1	1759	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCACTAC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF00515,hmmpanther:PTHR15081:SF1,hmmpanther:PTHR15081,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	.	.	ENSP00000255120	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000350030	Transcript	.	.	ENSG00000132780	7644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.1)	.	NASP_HUMAN	NASP	HGNC	Q9P1N1_HUMAN,B4DS57_HUMAN	.	UPI000012FDA0	SNV	NASP,missense_variant,p.His589Tyr,ENST00000402363,;NASP,missense_variant,p.His587Tyr,ENST00000350030,;NASP,missense_variant,p.His17Tyr,ENST00000534450,;NASP,missense_variant,p.His523Tyr,ENST00000537798,;NASP,missense_variant,p.His248Tyr,ENST00000351223,;NASP,missense_variant,p.His184Tyr,ENST00000528238,;NASP,missense_variant,p.His112Tyr,ENST00000531612,;NASP,missense_variant,p.His221Tyr,ENST00000372052,;NASP,missense_variant,p.His248Tyr,ENST00000437901,;CCDC17,downstream_gene_variant,,ENST00000343901,;CCDC17,downstream_gene_variant,,ENST00000421127,;NASP,downstream_gene_variant,,ENST00000525515,;NASP,non_coding_transcript_exon_variant,,ENST00000530073,;NASP,3_prime_UTR_variant,,ENST00000437362,;NASP,3_prime_UTR_variant,,ENST00000527359,;NASP,3_prime_UTR_variant,,ENST00000453748,;NASP,non_coding_transcript_exon_variant,,ENST00000527932,;NASP,non_coding_transcript_exon_variant,,ENST00000481782,;CCDC17,downstream_gene_variant,,ENST00000372044,;NASP,upstream_gene_variant,,ENST00000472408,;CCDC17,downstream_gene_variant,,ENST00000482416,;CCDC17,downstream_gene_variant,,ENST00000491755,;	1846	129	145	SUCCESS
CCDC18	343099	.	GRCh37	1	93649646	93649646	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	85	0	ENST00000343253.7:c.246A>G	p.Glu82=	p.E82=	ENST00000343253		82	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	.	408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAAAACGT	BUFFER|p.N201N|c.603C>T|3	.	.	hmmpanther:PTHR18875:SF4,hmmpanther:PTHR18875	.	.	ENSP00000359299	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000370276	Transcript	.	.	ENSG00000122483	30370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CCDC18	HGNC	.	.	UPI0001F78148	SNV	CCDC18,synonymous_variant,p.%3D,ENST00000557479,;CCDC18,synonymous_variant,p.%3D,ENST00000401026,;CCDC18,synonymous_variant,p.%3D,ENST00000343253,;CCDC18,synonymous_variant,p.%3D,ENST00000370276,;CCDC18,synonymous_variant,p.%3D,ENST00000448243,;CCDC18,5_prime_UTR_variant,,ENST00000334652,;CCDC18,5_prime_UTR_variant,,ENST00000338949,;TMED5,upstream_gene_variant,,ENST00000370280,;TMED5,upstream_gene_variant,,ENST00000479918,;TMED5,upstream_gene_variant,,ENST00000370282,;CCDC18,intron_variant,,ENST00000528942,;CCDC18,synonymous_variant,p.%3D,ENST00000481180,;CCDC18,intron_variant,,ENST00000479653,;TMED5,upstream_gene_variant,,ENST00000370290,;	407	85	111	SUCCESS
TUBB1	81027	.	GRCh37	20	57594619	57594619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	69	0	ENST00000217133.1:c.42C>A	p.Asn14Lys	p.N14K	ENST00000217133	NM_030773.3	14	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS13475.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACCAGAT	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF74,Pfam_domain:PF00091,Gene3D:3.40.50.1440,Superfamily_domains:SSF52490,Prints_domain:PR01161	.	.	ENSP00000217133	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000217133	Transcript	1	.	ENSG00000101162	16257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	TBB1_HUMAN	TUBB1	HGNC	.	.	UPI0000071B14	SNV	TUBB1,missense_variant,p.Asn14Lys,ENST00000217133,;	311	69	96	SUCCESS
ZNF831	128611	.	GRCh37	20	57767039	57767039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	130	116	0	ENST00000371030.2:c.965C>T	p.Ala322Val	p.A322V	ENST00000371030	NM_178457.2	322	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42894.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGCAGCGG	BUFFER|p.A323A|c.969G>C|8	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.55)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Ala322Val,ENST00000371030,;	965	116	241	SUCCESS
KCNQ2	3785	.	GRCh37	20	62045484	62045484	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	89	131	0	ENST00000359125.2:c.1588G>T	p.Glu530Ter	p.E530*	ENST00000359125	NM_172107.2	530	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS13520.1	1588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCGGTCA	NONE	.	.	Pfam_domain:PF03520	.	.	ENSP00000352035	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000359125	Transcript	1	.	ENSG00000075043	6296	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNQ2_HUMAN	KCNQ2	HGNC	.	.	UPI00001279ED	SNV	KCNQ2,stop_gained,p.Glu530Ter,ENST00000359689,;KCNQ2,stop_gained,p.Glu530Ter,ENST00000359125,;KCNQ2,stop_gained,p.Glu502Ter,ENST00000354587,;KCNQ2,stop_gained,p.Glu502Ter,ENST00000370224,;KCNQ2,stop_gained,p.Glu502Ter,ENST00000360480,;KCNQ2,stop_gained,p.Glu512Ter,ENST00000357249,;KCNQ2,stop_gained,p.Glu499Ter,ENST00000344462,;	1763	131	191	SUCCESS
CLDN8	9073	.	GRCh37	21	31588254	31588254	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	42	88	0	ENST00000399899.1:c.-11C>T		p.*4*	ENST00000399899	NM_199328.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13587.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGATGAG	NONE	.	.	.	.	.	ENSP00000382783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399899	Transcript	.	.	ENSG00000156284	2050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD8_HUMAN	CLDN8	HGNC	.	.	UPI00000389FD	SNV	CLDN8,5_prime_UTR_variant,,ENST00000286809,;CLDN8,5_prime_UTR_variant,,ENST00000399899,;LINC00307,upstream_gene_variant,,ENST00000451410,;	138	88	64	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	19	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	19	24	SUCCESS
IL36B	27177	.	GRCh37	2	113785625	113785635	+	intron_variant	Intron	DEL	TTATTGTGGAA	TTATTGTGGAA	-	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	TTATTGTGGAA	TTATTGTGGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	74	0	ENST00000259213.4:c.261+881_261+891del		p.*87*	ENST00000259213	NM_014438.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2109.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTTCTTTATTGTGGAAAAAGA	NONE	.	.	.	.	.	ENSP00000259213	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259213	Transcript	.	.	ENSG00000136696	15564	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL36B_HUMAN	IL36B	HGNC	.	.	UPI000003C9C0	deletion	IL36B,frameshift_variant,p.Phe107ArgfsTer37,ENST00000327407,;IL36B,intron_variant,,ENST00000259213,;	.	74	102	SUCCESS
DNAH7	56171	.	GRCh37	2	196799358	196799358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	72	176	0	ENST00000312428.6:c.3428G>T	p.Trp1143Leu	p.W1143L	ENST00000312428	NM_018897.2	1143	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS42794.1	3428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACCACTTC	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000311273	.	21/65	.	.	.	.	.	.	.	.	.	21/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Trp1143Leu,ENST00000312428,;	3529	176	185	SUCCESS
SF3B1	23451	.	GRCh37	2	198274569	198274569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	55	133	0	ENST00000335508.6:c.829G>T	p.Ala277Ser	p.A277S	ENST00000335508	NM_012433.2	277	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS33356.1	829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGCATGGC	NONE	.	.	hmmpanther:PTHR12097	.	.	ENSP00000335321	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.39)	.	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Ala277Ser,ENST00000335508,;SNORA4,downstream_gene_variant,,ENST00000365564,;SF3B1,non_coding_transcript_exon_variant,,ENST00000470268,;SF3B1,upstream_gene_variant,,ENST00000468925,;	921	133	145	SUCCESS
ABCA12	26154	.	GRCh37	2	215848388	215848388	+	synonymous_variant	Silent	SNP	G	G	A	rs1257104572	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	51	113	0	ENST00000272895.7:c.4365C>T	p.Leu1455=	p.L1455=	ENST00000272895	NM_173076.2	1455	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33372.1	4365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGAGCTG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	.	ENSP00000272895	.	29/53	.	.	.	.	.	.	.	.	.	29/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,synonymous_variant,p.%3D,ENST00000389661,;ABCA12,synonymous_variant,p.%3D,ENST00000272895,;	4585	113	121	SUCCESS
AGXT	189	.	GRCh37	2	241808274	241808274	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	91	171	0	ENST00000307503.3:c.-9G>T		p.*3*	ENST00000307503	NM_000030.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2543.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGGTGCGG	NONE	.	.	.	.	.	ENSP00000302620	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000307503	Transcript	.	.	ENSG00000172482	341	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPYA_HUMAN	AGXT	HGNC	.	.	UPI0000135E9B	SNV	AGXT,5_prime_UTR_variant,,ENST00000307503,;AGXT,non_coding_transcript_exon_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000476698,;	379	171	239	SUCCESS
RTKN	6242	.	GRCh37	2	74657145	74657145	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	51	119	0	ENST00000272430.5:c.565T>C	p.Phe189Leu	p.F189L	ENST00000272430	NM_001015055.1	189	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS33226.1	565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAAGTCTG	NONE	.	.	hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF19,Pfam_domain:PF08174	.	.	ENSP00000272430	.	6/12	.	.	.	.	.	.	.	.	COSM3364830,COSM3364831	6/12	PASS	ENST00000272430	Transcript	.	.	ENSG00000114993	10466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	RTKN_HUMAN	RTKN	HGNC	.	.	UPI0000031F56	SNV	RTKN,missense_variant,p.Phe176Leu,ENST00000305557,;RTKN,missense_variant,p.Phe139Leu,ENST00000233330,;RTKN,missense_variant,p.Phe189Leu,ENST00000272430,;WDR54,downstream_gene_variant,,ENST00000348227,;WDR54,downstream_gene_variant,,ENST00000409791,;RTKN,downstream_gene_variant,,ENST00000484453,;WDR54,downstream_gene_variant,,ENST00000461531,;RTKN,downstream_gene_variant,,ENST00000479256,;WDR54,downstream_gene_variant,,ENST00000469321,;RTKN,downstream_gene_variant,,ENST00000464094,;WDR54,downstream_gene_variant,,ENST00000465134,;RTKN,upstream_gene_variant,,ENST00000492013,;RTKN,downstream_gene_variant,,ENST00000472518,;WDR54,downstream_gene_variant,,ENST00000468778,;RTKN,downstream_gene_variant,,ENST00000469859,;RTKN,downstream_gene_variant,,ENST00000460968,;WDR54,downstream_gene_variant,,ENST00000482605,;WDR54,downstream_gene_variant,,ENST00000480089,;	648	119	139	SUCCESS
MRPL35	51318	.	GRCh37	2	86433255	86433255	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs17851803	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	155	331	0	ENST00000337109.4:c.70G>T	p.Ala24Ser	p.A24S	ENST00000337109	NM_016622.3	24	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1988.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGCATCT	NONE	.	.	hmmpanther:PTHR15909:SF0,hmmpanther:PTHR15909	.	.	ENSP00000338389	.	2/4	.	.	.	.	.	.	.	.	rs17851803	2/4	PASS	ENST00000337109	Transcript	.	.	ENSG00000132313	14489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	tolerated(0.05)	.	RM35_HUMAN	MRPL35	HGNC	.	.	UPI000004A028	SNV	MRPL35,missense_variant,p.Ala24Ser,ENST00000337109,;MRPL35,missense_variant,p.Ala24Ser,ENST00000605125,;MRPL35,missense_variant,p.Ala24Ser,ENST00000409180,;MRPL35,missense_variant,p.Ala24Ser,ENST00000254644,;	104	332	392	SUCCESS
IFT122	55764	.	GRCh37	3	129239078	129239078	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	22	0	ENST00000348417.2:c.3696C>G	p.Cys1232Trp	p.C1232W	ENST00000348417	NM_052989.2	1232	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS3060.1	3849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGCCGCAG	CODON|p.R1284C|c.3850C>T|4	.	.	hmmpanther:PTHR12764:SF4,hmmpanther:PTHR12764	.	.	ENSP00000296266	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000296266	Transcript	.	.	ENSG00000163913	13556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IF122_HUMAN	IFT122	HGNC	H7C3C0_HUMAN	.	UPI0000141042	SNV	IFT122,missense_variant,p.Cys1122Trp,ENST00000349441,;IFT122,missense_variant,p.Cys1109Trp,ENST00000504021,;IFT122,missense_variant,p.Cys1225Trp,ENST00000507564,;IFT122,missense_variant,p.Cys1173Trp,ENST00000347300,;IFT122,missense_variant,p.Cys1023Trp,ENST00000440957,;IFT122,missense_variant,p.Cys1283Trp,ENST00000296266,;IFT122,missense_variant,p.Cys1082Trp,ENST00000431818,;IFT122,missense_variant,p.Cys1232Trp,ENST00000348417,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000511425,;IFT122,non_coding_transcript_exon_variant,,ENST00000513190,;	4041	22	28	SUCCESS
SDHAP2	727956	.	GRCh37	3	195392967	195392967	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	22	0	ENST00000455183.1:n.659G>T		p.*220*	ENST00000455183				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	TTGTGGAGTAT	NONE	.	.	.	.	.	.	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000455183	Transcript	.	.	ENSG00000215837	27408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SDHAP2	HGNC	.	.	.	SNV	LINC00969,non_coding_transcript_exon_variant,,ENST00000539717,;LINC00969,non_coding_transcript_exon_variant,,ENST00000453324,;LINC00969,non_coding_transcript_exon_variant,,ENST00000445430,;LINC00969,non_coding_transcript_exon_variant,,ENST00000429897,;LINC00969,non_coding_transcript_exon_variant,,ENST00000457233,;LINC00969,non_coding_transcript_exon_variant,,ENST00000539252,;LINC00969,non_coding_transcript_exon_variant,,ENST00000414625,;LINC00969,downstream_gene_variant,,ENST00000425425,;LINC00969,downstream_gene_variant,,ENST00000452844,;SDHAP2,non_coding_transcript_exon_variant,,ENST00000455183,;	659	22	17	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913396	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	78	151	0	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS2694.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32G|c.95A>G|72,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32V|c.95A>T|41,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.452)	.	deleterious(0.01)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	151	238	SUCCESS
CACNA2D2	9254	.	GRCh37	3	50404287	50404287	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771678835	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	44	0	ENST00000479441.1:c.2585G>A	p.Arg862His	p.R862H	ENST00000479441		862	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS54588.1	2585	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTACGGTTG	NONE	.	.	hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166	.	.	ENSP00000418081	.	30/39	.	.	.	.	.	.	.	.	rs771678835	30/39	PASS	ENST00000479441	Transcript	.	.	ENSG00000007402	1400	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.25)	.	CA2D2_HUMAN	CACNA2D2	HGNC	.	.	UPI0000E5A6AF	SNV	CACNA2D2,missense_variant,p.Arg786His,ENST00000360963,;CACNA2D2,missense_variant,p.Arg862His,ENST00000435965,;CACNA2D2,missense_variant,p.Arg855His,ENST00000266039,;CACNA2D2,missense_variant,p.Arg855His,ENST00000429770,;CACNA2D2,missense_variant,p.Arg855His,ENST00000424201,;CACNA2D2,missense_variant,p.Arg862His,ENST00000423994,;CACNA2D2,missense_variant,p.Arg862His,ENST00000479441,;CACNA2D2,missense_variant,p.Arg855His,ENST00000395083,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;XXcos-LUCA11.4,intron_variant,,ENST00000606665,;XXcos-LUCA11.4,intron_variant,,ENST00000607583,;XXcos-LUCA11.4,intron_variant,,ENST00000607121,;XXcos-LUCA11.4,intron_variant,,ENST00000607088,;XXcos-LUCA11.4,intron_variant,,ENST00000606259,;XXcos-LUCA11.4,upstream_gene_variant,,ENST00000607362,;CACNA2D2,upstream_gene_variant,,ENST00000483620,;	2585	44	47	SUCCESS
CADPS	8618	.	GRCh37	3	62648033	62648033	+	synonymous_variant	Silent	SNP	G	G	T	rs1383043582	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	60	0	ENST00000383710.4:c.925C>A	p.Arg309=	p.R309=	ENST00000383710	NM_003716.3	309	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS46858.1	925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGTCTGA	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,synonymous_variant,p.%3D,ENST00000357948,;CADPS,synonymous_variant,p.%3D,ENST00000283269,;CADPS,synonymous_variant,p.%3D,ENST00000383710,;CADPS,synonymous_variant,p.%3D,ENST00000490353,;	1275	60	37	SUCCESS
LRIG1	26018	.	GRCh37	3	66430695	66430695	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs199537042	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	80	0	ENST00000273261.3:c.3274A>C	p.Lys1092Gln	p.K1092Q	ENST00000273261	NM_015541.2	1092	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS33783.1	3274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTTTGGTG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000273261	.	19/19	.	.	.	.	.	.	.	.	rs199537042	19/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated_low_confidence(0.06)	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,missense_variant,p.Lys1069Gln,ENST00000383703,;LRIG1,missense_variant,p.Lys1092Gln,ENST00000273261,;SLC25A26,3_prime_UTR_variant,,ENST00000536651,;SLC25A26,downstream_gene_variant,,ENST00000354883,;SLC25A26,downstream_gene_variant,,ENST00000413054,;SLC25A26,downstream_gene_variant,,ENST00000336733,;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,3_prime_UTR_variant,,ENST00000464350,;SLC25A26,downstream_gene_variant,,ENST00000483224,;	3799	80	68	SUCCESS
EPHA3	2042	.	GRCh37	3	89259351	89259351	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	113	0	ENST00000336596.2:c.495C>T	p.Asn165=	p.N165=	ENST00000336596	NM_005233.5	165	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS2922.1	495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACACTGA	CODON|p.T166A|c.496A>G|3,CODON|p.T166A|c.496A>G|3	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	.	.	ENSP00000337451	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,synonymous_variant,p.%3D,ENST00000494014,;EPHA3,synonymous_variant,p.%3D,ENST00000452448,;EPHA3,synonymous_variant,p.%3D,ENST00000336596,;	720	113	101	SUCCESS
PLRG1	5356	.	GRCh37	4	155457860	155457860	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	85	182	0	ENST00000499023.2:c.1522A>C	p.Ile508Leu	p.I508L	ENST00000499023	NM_001201564.1	508	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS34083.1	1522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAATTTCTG	NONE	.	.	hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0	.	.	ENSP00000424417	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000499023	Transcript	.	.	ENSG00000171566	9089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.7)	.	PLRG1_HUMAN	PLRG1	HGNC	.	.	UPI0000070B39	SNV	PLRG1,missense_variant,p.Ile499Leu,ENST00000302078,;PLRG1,missense_variant,p.Asn86Thr,ENST00000503251,;PLRG1,missense_variant,p.Ile508Leu,ENST00000393905,;PLRG1,missense_variant,p.Ile508Leu,ENST00000499023,;PLRG1,3_prime_UTR_variant,,ENST00000506627,;PLRG1,non_coding_transcript_exon_variant,,ENST00000512773,;PLRG1,downstream_gene_variant,,ENST00000507125,;PLRG1,downstream_gene_variant,,ENST00000506192,;	1649	182	196	SUCCESS
PLRG1	5356	.	GRCh37	4	155460301	155460301	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	59	116	0	ENST00000499023.2:c.1107A>G	p.Thr369=	p.T369=	ENST00000499023	NM_001201564.1	369	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS34083.1	1107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTTGTTAA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000424417	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000499023	Transcript	.	.	ENSG00000171566	9089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLRG1_HUMAN	PLRG1	HGNC	.	.	UPI0000070B39	SNV	PLRG1,synonymous_variant,p.%3D,ENST00000302078,;PLRG1,synonymous_variant,p.%3D,ENST00000503251,;PLRG1,synonymous_variant,p.%3D,ENST00000393905,;PLRG1,synonymous_variant,p.%3D,ENST00000499023,;PLRG1,downstream_gene_variant,,ENST00000504341,;RNU6-1285P,downstream_gene_variant,,ENST00000363480,;PLRG1,synonymous_variant,p.%3D,ENST00000506627,;PLRG1,non_coding_transcript_exon_variant,,ENST00000507125,;PLRG1,upstream_gene_variant,,ENST00000512773,;PLRG1,downstream_gene_variant,,ENST00000506918,;PLRG1,downstream_gene_variant,,ENST00000506192,;	1234	116	125	SUCCESS
EVC2	132884	.	GRCh37	4	5620343	5620343	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs745525669	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	77	134	0	ENST00000344408.5:c.2568T>A	p.His856Gln	p.H856Q	ENST00000344408	NM_147127.4	856	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS3382.2	2568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCATGGAC	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795	.	.	ENSP00000342144	.	15/22	.	.	.	.	.	.	.	.	rs745525669	15/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.31)	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,missense_variant,p.His856Gln,ENST00000344938,;EVC2,missense_variant,p.His776Gln,ENST00000310917,;EVC2,missense_variant,p.His856Gln,ENST00000344408,;EVC2,missense_variant,p.His776Gln,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	2622	134	148	SUCCESS
UGT2B15	7366	.	GRCh37	4	69519806	69519806	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	371	9	381	1	ENST00000338206.5:c.1262T>C	p.Met421Thr	p.M421T	ENST00000338206	NM_001076.3	421	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS3524.1	1262	MUTECT|MUSE	.	TTGACATGGTC	NONE	.	.	Superfamily_domains:SSF53756,Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178	.	.	ENSP00000341045	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000338206	Transcript	.	.	ENSG00000196620	12546	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	UDB15_HUMAN	UGT2B15	HGNC	.	.	UPI000045721A	SNV	UGT2B15,missense_variant,p.Met421Thr,ENST00000338206,;	1272	382	380	SUCCESS
TMEM175	84286	.	GRCh37	4	944244	944244	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	75	136	0	ENST00000264771.4:c.228A>T	p.Thr76=	p.T76=	ENST00000264771	NM_032326.2	76	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3341.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACACGGAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31462:SF2,hmmpanther:PTHR31462,Pfam_domain:PF06736	.	.	ENSP00000264771	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000264771	Transcript	.	.	ENSG00000127419	28709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM175_HUMAN	TMEM175	HGNC	E7ETE6_HUMAN,D6RIZ2_HUMAN,D6RBE5_HUMAN,D3DVN5_HUMAN	.	UPI000006D921	SNV	TMEM175,synonymous_variant,p.%3D,ENST00000514546,;TMEM175,synonymous_variant,p.%3D,ENST00000514453,;TMEM175,synonymous_variant,p.%3D,ENST00000264771,;TMEM175,synonymous_variant,p.%3D,ENST00000507319,;TMEM175,5_prime_UTR_variant,,ENST00000510493,;TMEM175,5_prime_UTR_variant,,ENST00000515492,;TMEM175,5_prime_UTR_variant,,ENST00000515740,;TMEM175,5_prime_UTR_variant,,ENST00000509508,;TMEM175,5_prime_UTR_variant,,ENST00000508204,;TMEM175,non_coding_transcript_exon_variant,,ENST00000504180,;TMEM175,3_prime_UTR_variant,,ENST00000513682,;TMEM175,3_prime_UTR_variant,,ENST00000504744,;TMEM175,3_prime_UTR_variant,,ENST00000513952,;TMEM175,non_coding_transcript_exon_variant,,ENST00000515876,;TMEM175,non_coding_transcript_exon_variant,,ENST00000438836,;TMEM175,non_coding_transcript_exon_variant,,ENST00000452360,;TMEM175,non_coding_transcript_exon_variant,,ENST00000502513,;TMEM175,non_coding_transcript_exon_variant,,ENST00000504505,;TMEM175,upstream_gene_variant,,ENST00000506669,;TMEM175,downstream_gene_variant,,ENST00000505734,;TMEM175,downstream_gene_variant,,ENST00000504850,;	413	136	160	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215718	140215718	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	93	74	1	ENST00000525929.1:c.1750T>G	p.Ser584Ala	p.S584A	ENST00000525929	NM_018910.2	584	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS54918.1	1750	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCGGTCTGTG	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.064)	.	tolerated_low_confidence(0.05)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Ser584Ala,ENST00000378125,;PCDHA7,missense_variant,p.Ser584Ala,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1750	75	165	SUCCESS
GABRA1	2554	.	GRCh37	5	161317904	161317904	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	63	64	0	ENST00000023897.6:c.704G>C	p.Gly235Ala	p.G235A	ENST00000023897	NM_000806.5	235	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS4357.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGAGAAT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR01079	.	.	ENSP00000393097	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.576)	.	deleterious(0.04)	.	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Gly235Ala,ENST00000444819,;GABRA1,missense_variant,p.Gly235Ala,ENST00000420560,;GABRA1,missense_variant,p.Gly235Ala,ENST00000393943,;GABRA1,missense_variant,p.Gly235Ala,ENST00000023897,;GABRA1,missense_variant,p.Gly235Ala,ENST00000437025,;GABRA1,missense_variant,p.Gly235Ala,ENST00000428797,;GABRA1,splice_region_variant,,ENST00000519542,;	1059	64	103	SUCCESS
DRD1	1812	.	GRCh37	5	174869355	174869355	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200037245	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	30	64	0	ENST00000393752.2:c.748C>T	p.Pro250Ser	p.P250S	ENST00000393752	NM_000794.3	250	Cct/Tct	0	.	A:0	.	A:0	.	A	P/S	protein_coding	YES	CCDS4393.1	748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGCTTTC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00565	A:0	.	ENSP00000377353	A:0	2/2	.	.	.	.	.	.	.	.	rs200037245	2/2	PASS	ENST00000393752	Transcript	.	A:0.0004	ENSG00000184845	3020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	A:0.002	tolerated(0.42)	.	DRD1_HUMAN	DRD1	HGNC	.	.	UPI00000503F5	SNV	DRD1,missense_variant,p.Pro250Ser,ENST00000393752,;	1741	64	117	SUCCESS
KIAA0825	285600	.	GRCh37	5	93798152	93798152	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	312	297	0	ENST00000513200.3:c.2186A>G	p.His729Arg	p.H729R	ENST00000513200	NM_001145678.1	729	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	.	.	2186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAATGAGTG	NONE	.	.	Pfam_domain:PF14906	.	.	ENSP00000400288	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000427991	Transcript	.	.	ENSG00000185261	28532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	tolerated(0.45)	.	.	KIAA0825	HGNC	C9J0Q2_HUMAN	.	UPI0001D3B505	SNV	KIAA0825,missense_variant,p.His729Arg,ENST00000427991,;KIAA0825,missense_variant,p.His729Arg,ENST00000312498,;KIAA0825,missense_variant,p.His729Arg,ENST00000513200,;KIAA0825,non_coding_transcript_exon_variant,,ENST00000504117,;	2186	297	527	SUCCESS
DPCR1	0	.	GRCh37	6	30918818	30918818	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	65	0	ENST00000462446.1:c.2577G>A	p.Glu859=	p.E859=	ENST00000462446		859	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS4692.2	2577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGCCTAC	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,synonymous_variant,p.%3D,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	2605	65	84	SUCCESS
BPHL	670	.	GRCh37	6	3140642	3140660	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCCGGGTCCAGTGCCCC	GCCCCGGGTCCAGTGCCCC	-	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	GCCCCGGGTCCAGTGCCCC	GCCCCGGGTCCAGTGCCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	96	0	ENST00000380379.5:c.690_708del	p.Arg231Ter	p.R231*	ENST00000380379	NM_004332.2	229	ctGCCCCGGGTCCAGTGCCCC/ct	0	.	.	.	.	.	-	LPRVQCP/X	protein_coding	YES	CCDS4483.2	687-705	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGCTGCCCCGGGTCCAGTGCCCCGCCTT	NONE	.	.	hmmpanther:PTHR10992:SF772,hmmpanther:PTHR10992,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000369739	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000380379	Transcript	.	.	ENSG00000137274	1094	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BPHL_HUMAN	BPHL	HGNC	.	.	UPI000000DC96	deletion	BPHL,frameshift_variant,p.Arg231Ter,ENST00000380379,;BPHL,frameshift_variant,p.Arg214Ter,ENST00000380375,;BPHL,frameshift_variant,p.Arg214Ter,ENST00000434640,;BPHL,coding_sequence_variant,,ENST00000423798,;BPHL,3_prime_UTR_variant,,ENST00000380368,;RP1-40E16.11,intron_variant,,ENST00000447644,;BPHL,3_prime_UTR_variant,,ENST00000424847,;BPHL,3_prime_UTR_variant,,ENST00000430655,;BPHL,3_prime_UTR_variant,,ENST00000433912,;BPHL,non_coding_transcript_exon_variant,,ENST00000490918,;BPHL,non_coding_transcript_exon_variant,,ENST00000488487,;	736-754	96	88	SUCCESS
TAS2R39	259285	.	GRCh37	7	142880762	142880762	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1164912285	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	52	0	ENST00000446620.1:c.251T>C	p.Ile84Thr	p.I84T	ENST00000446620	NM_176881.2	84	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47729.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATAGCTC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF40,hmmpanther:PTHR11394	.	.	ENSP00000405095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000446620	Transcript	.	.	ENSG00000236398	18886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.366)	.	tolerated(0.09)	.	T2R39_HUMAN	TAS2R39	HGNC	Q50KL2_HUMAN	.	UPI00000620BE	SNV	TAS2R39,missense_variant,p.Ile84Thr,ENST00000446620,;	251	52	73	SUCCESS
LMTK2	22853	.	GRCh37	7	97822810	97822815	+	frameshift_variant	Frame_Shift_Del	DEL	CTCTTT	CTCTTT	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	CTCTTT	CTCTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	50	40	51	0	ENST00000297293.5:c.3033_3038delinsA	p.Asp1011GlufsTer14	p.D1011Efs*14	ENST00000297293	NM_014916.3	1011	gaCTCTTTa/gaAa	0	.	.	.	.	.	A	DSL/EX	protein_coding	YES	CCDS5654.1	3033-3038	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ACTGGACTCTTTAGGAT	NONE	.	.	.	.	.	ENSP00000297293	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000297293	Transcript	.	.	ENSG00000164715	17880	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMTK2_HUMAN	LMTK2	HGNC	.	.	UPI000014F277	substitution	LMTK2,frameshift_variant,p.Asp1011GlufsTer14,ENST00000297293,;	3326-3331	51	90	SUCCESS
SH2D4A	63898	.	GRCh37	8	19192209	19192209	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	61	93	0	ENST00000265807.3:c.354T>A	p.Ser118=	p.S118=	ENST00000265807	NM_022071.3	118	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6009.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTGAAGA	NONE	.	.	hmmpanther:PTHR14388:SF5,hmmpanther:PTHR14388	.	.	ENSP00000265807	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000265807	Transcript	.	.	ENSG00000104611	26102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH24A_HUMAN	SH2D4A	HGNC	.	.	UPI000007372B	SNV	SH2D4A,synonymous_variant,p.%3D,ENST00000523736,;SH2D4A,synonymous_variant,p.%3D,ENST00000265807,;SH2D4A,synonymous_variant,p.%3D,ENST00000519207,;SH2D4A,synonymous_variant,p.%3D,ENST00000518040,;	765	93	120	SUCCESS
NRG1	3084	.	GRCh37	8	32505644	32505644	+	intron_variant	Intron	SNP	G	G	A	rs192228210	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	17	87	0	ENST00000405005.3:c.502+31241G>A		p.*168*	ENST00000405005				0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS6083.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGTCTGA	NONE	byCluster|by1000G	.	.	T:0.001	.	ENSP00000349275	T:0	.	.	.	.	.	.	.	.	.	rs192228210	.	PASS	ENST00000356819	Transcript	.	T:0.0002	ENSG00000157168	7997	.	.	MODIFIER	5/12	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NRG1_HUMAN	NRG1	HGNC	Q7RTW5_HUMAN,B7Z168_HUMAN	.	UPI000013DED7	SNV	NRG1,synonymous_variant,p.%3D,ENST00000523041,;NRG1,synonymous_variant,p.%3D,ENST00000520502,;NRG1,intron_variant,,ENST00000338921,;NRG1,intron_variant,,ENST00000520407,;NRG1,intron_variant,,ENST00000287842,;NRG1,intron_variant,,ENST00000523079,;NRG1,intron_variant,,ENST00000521670,;NRG1,intron_variant,,ENST00000519301,;NRG1,intron_variant,,ENST00000356819,;NRG1,intron_variant,,ENST00000341377,;NRG1,intron_variant,,ENST00000518206,;NRG1,intron_variant,,ENST00000518104,;NRG1,intron_variant,,ENST00000523534,;NRG1,intron_variant,,ENST00000405005,;NRG1,intron_variant,,ENST00000287845,;NRG1,intron_variant,,ENST00000522569,;	.	87	105	SUCCESS
CCDC171	203238	.	GRCh37	9	15778979	15778979	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs749392658	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	102	0	ENST00000380701.3:c.2912C>A	p.Ser971Ter	p.S971*	ENST00000380701	NM_173550.2	971	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS6481.1	2912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCGTTGC	NONE	.	.	.	.	.	ENSP00000370077	.	20/26	.	.	.	.	.	.	.	.	rs749392658	20/26	PASS	ENST00000380701	Transcript	.	.	ENSG00000164989	29828	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC171_HUMAN	CCDC171	HGNC	Q8NCV3_HUMAN	.	UPI000021C44B	SNV	CCDC171,stop_gained,p.Ser971Ter,ENST00000297641,;CCDC171,stop_gained,p.Ser971Ter,ENST00000380701,;CCDC171,stop_gained,p.Ser25Ter,ENST00000432954,;CCDC171,stop_gained,p.Ser211Ter,ENST00000449575,;RNU6-14P,upstream_gene_variant,,ENST00000384630,;	3240	102	38	SUCCESS
CCDC171	203238	.	GRCh37	9	15778980	15778980	+	synonymous_variant	Silent	SNP	G	G	C	rs375214888	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	101	0	ENST00000380701.3:c.2913G>C	p.Ser971=	p.S971=	ENST00000380701	NM_173550.2	971	tcG/tcC	0	A:0	.	.	.	.	C	S	protein_coding	YES	CCDS6481.1	2913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCGTTGCA	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000370077	.	20/26	.	.	.	.	.	.	.	.	rs375214888	20/26	PASS	ENST00000380701	Transcript	.	.	ENSG00000164989	29828	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC171_HUMAN	CCDC171	HGNC	Q8NCV3_HUMAN	.	UPI000021C44B	SNV	CCDC171,synonymous_variant,p.%3D,ENST00000297641,;CCDC171,synonymous_variant,p.%3D,ENST00000380701,;CCDC171,synonymous_variant,p.%3D,ENST00000432954,;CCDC171,synonymous_variant,p.%3D,ENST00000449575,;RNU6-14P,upstream_gene_variant,,ENST00000384630,;	3241	101	38	SUCCESS
KANK1	23189	.	GRCh37	9	740792	740792	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1278099765	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	22	0	ENST00000382297.2:c.3554A>G	p.Asp1185Gly	p.D1185G	ENST00000382297	NM_001256877.1	1185	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS34976.1	3554	RADIA|SOMATICSNIPER|VARSCANS	.	TACAGATGTGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000371740	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.097)	.	tolerated(0.33)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Asp104Gly,ENST00000382286,;KANK1,missense_variant,p.Asp1027Gly,ENST00000382293,;KANK1,missense_variant,p.Asp1185Gly,ENST00000382303,;KANK1,missense_variant,p.Asp185Gly,ENST00000382289,;KANK1,missense_variant,p.Asp1185Gly,ENST00000382297,;KANK1,splice_region_variant,,ENST00000489369,;	4206	23	22	SUCCESS
FANCC	2176	.	GRCh37	9	98011462	98011462	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778951584	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	41	77	0	ENST00000289081.3:c.112G>T	p.Val38Leu	p.V38L	ENST00000289081	NM_000136.2	38	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS35071.1	112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACGTGAA	NONE	byFrequency|byCluster	.	Prints_domain:PR00494,PIRSF_domain:PIRSF018417,Pfam_domain:PF02106,hmmpanther:PTHR16798,hmmpanther:PTHR16798:SF0	.	.	ENSP00000289081	.	2/15	.	.	.	.	.	.	.	.	rs778951584,COSM1463789	2/15	PASS	ENST00000289081	Transcript	.	.	ENSG00000158169	3584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated(1)	0,1	FANCC_HUMAN	FANCC	HGNC	B4E3W2_HUMAN,B1ALR7_HUMAN	.	UPI000000D910	SNV	FANCC,missense_variant,p.Val38Leu,ENST00000433829,;FANCC,missense_variant,p.Val38Leu,ENST00000375305,;FANCC,missense_variant,p.Val38Leu,ENST00000289081,;FANCC,non_coding_transcript_exon_variant,,ENST00000474949,;	367	77	77	SUCCESS
RBMX	27316	.	GRCh37	X	135957191	135957191	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	34	108	0	ENST00000320676.7:c.865+54T>C		p.*289*	ENST00000320676	NM_002139.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14661.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCACGAAC	NONE	.	.	.	.	.	ENSP00000359645	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320676	Transcript	.	.	ENSG00000147274	9910	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBMX_HUMAN	RBMX	HGNC	H3BUY5_HUMAN,B4E352_HUMAN,B3KRG5_HUMAN	.	UPI0000134535	SNV	RBMX,3_prime_UTR_variant,,ENST00000562646,;RBMX,intron_variant,,ENST00000570135,;RBMX,intron_variant,,ENST00000419968,;RBMX,intron_variant,,ENST00000431446,;RBMX,intron_variant,,ENST00000320676,;RBMX,intron_variant,,ENST00000565438,;SNORD61,downstream_gene_variant,,ENST00000384252,;RBMX,upstream_gene_variant,,ENST00000496459,;RBMX,upstream_gene_variant,,ENST00000561733,;RBMX,downstream_gene_variant,,ENST00000567262,;RBMX,3_prime_UTR_variant,,ENST00000568578,;RBMX,intron_variant,,ENST00000464781,;RBMX,downstream_gene_variant,,ENST00000565907,;RBMX,downstream_gene_variant,,ENST00000563370,;	.	108	179	SUCCESS
ABCC2	1244	.	GRCh37	10	101601846	101601846	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	69	0	ENST00000370449.4:c.3737T>A	p.Leu1246His	p.L1246H	ENST00000370449	NM_000392.3	1246	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS7484.1	3737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACTCAATG	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000359478	.	26/32	.	.	.	.	.	.	.	.	.	26/32	PASS	ENST00000370449	Transcript	1	.	ENSG00000023839	53	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MRP2_HUMAN	ABCC2	HGNC	.	.	UPI000013D6CA	SNV	ABCC2,missense_variant,p.Leu1246His,ENST00000370449,;	3850	69	60	SUCCESS
SMC3	9126	.	GRCh37	10	112341794	112341794	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	176	2	ENST00000361804.4:c.661C>A	p.Arg221=	p.R221=	ENST00000361804	NM_005445.3	221	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS31285.1	661	RADIA|VARSCANS	.	TGAGACGAGCC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF02463,hmmpanther:PTHR18937:SF164,hmmpanther:PTHR18937	.	.	ENSP00000354720	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000361804	Transcript	1	.	ENSG00000108055	2468	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMC3_HUMAN	SMC3	HGNC	.	.	UPI0000135A8D	SNV	SMC3,synonymous_variant,p.%3D,ENST00000361804,;SMC3,downstream_gene_variant,,ENST00000462899,;	787	178	123	SUCCESS
CHST3	9469	.	GRCh37	10	73767947	73767947	+	synonymous_variant	Silent	SNP	C	C	T	rs1362906854	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	158	0	ENST00000373115.4:c.1158C>T	p.Tyr386=	p.Y386=	ENST00000373115	NM_004273.4	386	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS7312.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTACCGCTT	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF005883,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,synonymous_variant,p.%3D,ENST00000373115,;	1595	158	107	SUCCESS
CTR9	9646	.	GRCh37	11	10774265	10774265	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	101	1	ENST00000361367.2:c.92T>C	p.Ile31Thr	p.I31T	ENST00000361367	NM_014633.3	31	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7805.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTATCAGTA	NONE	.	.	hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2	.	.	ENSP00000355013	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000361367	Transcript	.	.	ENSG00000198730	16850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0)	.	CTR9_HUMAN	CTR9	HGNC	.	.	UPI000006F32A	SNV	CTR9,missense_variant,p.Ile18Thr,ENST00000524523,;CTR9,missense_variant,p.Ile31Thr,ENST00000361367,;	518	102	69	SUCCESS
KCNA4	3739	.	GRCh37	11	30033717	30033717	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1364807757	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	62	1	ENST00000328224.6:c.509G>A	p.Arg170His	p.R170H	ENST00000328224	NM_002233.3	170	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS41629.1	509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGCGGACT	NONE	.	.	.	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	COSM428889	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.964)	.	tolerated_low_confidence(0.08)	1	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,missense_variant,p.Arg170His,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	1743	63	60	SUCCESS
ZNF408	79797	.	GRCh37	11	46722545	46722545	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	78	0	ENST00000311764.2:c.-53G>A		p.*18*	ENST00000311764	NM_024741.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7923.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGAGCT	NONE	.	.	.	.	.	ENSP00000309606	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000311764	Transcript	.	.	ENSG00000175213	20041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN408_HUMAN	ZNF408	HGNC	.	.	UPI0000132189	SNV	ZNF408,5_prime_UTR_variant,,ENST00000311764,;ARHGAP1,upstream_gene_variant,,ENST00000528837,;ARHGAP1,upstream_gene_variant,,ENST00000525488,;ARHGAP1,upstream_gene_variant,,ENST00000311956,;ZNF408,upstream_gene_variant,,ENST00000534481,;ZNF408,upstream_gene_variant,,ENST00000531866,;ZNF408,upstream_gene_variant,,ENST00000526410,;ARHGAP1,upstream_gene_variant,,ENST00000529960,;ZNF408,upstream_gene_variant,,ENST00000527008,;ARHGAP1,upstream_gene_variant,,ENST00000527588,;ARHGAP1,upstream_gene_variant,,ENST00000524594,;	178	78	47	SUCCESS
DAK	0	.	GRCh37	11	61110239	61110241	+	inframe_deletion	In_Frame_Del	DEL	TGA	TGA	-	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	TGA	TGA	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	96	0	ENST00000394900.3:c.793_795del	p.Met265del	p.M265del	ENST00000394900	NM_015533.3	263	gTGAtg/gtg	0	.	.	.	.	.	-	VM/V	protein_coding	YES	CCDS8003.1	788-790	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGTTGTGATGATG	NONE	.	.	PROSITE_profiles:PS51481,Pfam_domain:PF02733,TIGRFAM_domain:TIGR02361,Gene3D:1oi2A02,Superfamily_domains:SSF82549	.	.	ENSP00000378360	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000394900	Transcript	.	.	ENSG00000149476	24552	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHAK_HUMAN	DAK	HGNC	E9PQR1_HUMAN,E9PJG8_HUMAN	.	UPI00000718B9	deletion	DAK,inframe_deletion,p.Met264del,ENST00000529479,;DAK,inframe_deletion,p.Met265del,ENST00000394900,;DAK,downstream_gene_variant,,ENST00000524968,;DAK,upstream_gene_variant,,ENST00000534084,;DAK,downstream_gene_variant,,ENST00000532173,;DAK,downstream_gene_variant,,ENST00000530456,;DAK,downstream_gene_variant,,ENST00000530057,;DAK,downstream_gene_variant,,ENST00000525170,;DAK,downstream_gene_variant,,ENST00000529620,;DAK,downstream_gene_variant,,ENST00000533393,;DAK,non_coding_transcript_exon_variant,,ENST00000534134,;DAK,non_coding_transcript_exon_variant,,ENST00000524953,;DAK,non_coding_transcript_exon_variant,,ENST00000533853,;DAK,downstream_gene_variant,,ENST00000529121,;DAK,upstream_gene_variant,,ENST00000528061,;DAK,upstream_gene_variant,,ENST00000524440,;DAK,upstream_gene_variant,,ENST00000534370,;DAK,upstream_gene_variant,,ENST00000530329,;DDB1,upstream_gene_variant,,ENST00000540166,;DAK,upstream_gene_variant,,ENST00000525366,;DAK,downstream_gene_variant,,ENST00000529092,;	1017-1019	96	73	SUCCESS
AHNAK	79026	.	GRCh37	11	62291321	62291321	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	75	0	ENST00000378024.4:c.10568A>T	p.Glu3523Val	p.E3523V	ENST00000378024	NM_001620.2	3523	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS31584.1	10568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTCCGGA	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Glu3523Val,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	10843	75	72	SUCCESS
MED13L	23389	.	GRCh37	12	116443800	116443800	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	78	0	ENST00000281928.3:c.2345-2A>G		p.X782_splice	ENST00000281928	NM_015335.4	782		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9177.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTGTAGG	NONE	.	.	.	.	.	ENSP00000281928	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	HIGH	12/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,splice_acceptor_variant,,ENST00000281928,;MED13L,downstream_gene_variant,,ENST00000549755,;	.	78	78	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43821122	43821122	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	25	111	0	ENST00000389420.3:c.4096A>T	p.Asn1366Tyr	p.N1366Y	ENST00000389420	NM_025003.3	1366	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS31778.2	4096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATTTCCGT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000374071	.	27/39	.	.	.	.	.	.	.	.	.	27/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.382)	.	deleterious(0.02)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Asn1366Tyr,ENST00000553158,;ADAMTS20,missense_variant,p.Asn1366Tyr,ENST00000389420,;ADAMTS20,missense_variant,p.Asn496Tyr,ENST00000549670,;ADAMTS20,missense_variant,p.Asn484Tyr,ENST00000395541,;	4096	111	99	SUCCESS
NAA16	79612	.	GRCh37	13	41885483	41885483	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	30	0	ENST00000379406.3:c.-182C>A		p.*61*	ENST00000379406	NM_024561.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9379.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCTTCTC	NONE	.	.	.	.	.	ENSP00000368716	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000379406	Transcript	.	.	ENSG00000172766	26164	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA16_HUMAN	NAA16	HGNC	A4FU51_HUMAN	.	UPI00001B559E	SNV	NAA16,5_prime_UTR_variant,,ENST00000403412,;NAA16,5_prime_UTR_variant,,ENST00000379367,;NAA16,5_prime_UTR_variant,,ENST00000379406,;NAA16,non_coding_transcript_exon_variant,,ENST00000476980,;NAA16,5_prime_UTR_variant,,ENST00000464857,;	143	30	29	SUCCESS
PSMB11	122706	.	GRCh37	14	23511534	23511534	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	46	0	ENST00000408907.2:c.100G>T	p.Asp34Tyr	p.D34Y	ENST00000408907	NM_001099780.1	34	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS41923.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTGACCCT	NONE	.	.	hmmpanther:PTHR11599:SF48,hmmpanther:PTHR11599,Superfamily_domains:SSF56235	.	.	ENSP00000386212	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408907	Transcript	.	.	ENSG00000222028	31963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0)	.	PSB11_HUMAN	PSMB11	HGNC	.	.	UPI00001D7B85	SNV	PSMB11,missense_variant,p.Asp34Tyr,ENST00000408907,;CDH24,downstream_gene_variant,,ENST00000487137,;CDH24,downstream_gene_variant,,ENST00000397359,;CDH24,downstream_gene_variant,,ENST00000485922,;	159	46	35	SUCCESS
ZFP36L1	677	.	GRCh37	14	69259665	69259665	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs1000947556	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	70	0	ENST00000336440.3:c.-10A>G		p.*4*	ENST00000336440				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9791.1	.	RADIA|MUTECT|MUSE	.	TGCGTTCGCGC	NONE	.	.	.	.	.	ENSP00000388402	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,synonymous_variant,p.%3D,ENST00000553375,;ZFP36L1,5_prime_UTR_variant,,ENST00000336440,;ZFP36L1,5_prime_UTR_variant,,ENST00000439696,;ZFP36L1,intron_variant,,ENST00000557022,;ZFP36L1,intron_variant,,ENST00000557086,;ZFP36L1,downstream_gene_variant,,ENST00000408913,;ZFP36L1,upstream_gene_variant,,ENST00000555997,;	293	71	52	SUCCESS
NDN	4692	.	GRCh37	15	23931514	23931514	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	68	0	ENST00000331837.4:c.851A>G	p.Lys284Arg	p.K284R	ENST00000331837	NM_002487.2	284	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10014.1	851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTTAAAG	NONE	.	.	hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	COSM1258864,COSM337405	1/1	PASS	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.609)	.	tolerated(0.05)	1,1	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,missense_variant,p.Lys284Arg,ENST00000331837,;	937	68	47	SUCCESS
NTN3	4917	.	GRCh37	16	2522557	2522557	+	synonymous_variant	Silent	SNP	C	C	T	rs745543860	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	83	0	ENST00000293973.1:c.855C>T	p.Cys285=	p.C285=	ENST00000293973	NM_006181.2	285	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS10469.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCGGCCG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000293973	.	1/6	.	.	.	.	.	.	.	.	rs745543860	1/6	PASS	ENST00000293973	Transcript	.	.	ENSG00000162068	8030	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NET3_HUMAN	NTN3	HGNC	.	.	UPI000006ED30	SNV	NTN3,synonymous_variant,p.%3D,ENST00000293973,;TBC1D24,upstream_gene_variant,,ENST00000293970,;TBC1D24,upstream_gene_variant,,ENST00000567020,;RP11-715J22.2,upstream_gene_variant,,ENST00000563775,;RP11-715J22.6,upstream_gene_variant,,ENST00000561847,;	1058	83	70	SUCCESS
ASPHD1	253982	.	GRCh37	16	29913162	29913162	+	synonymous_variant	Silent	SNP	C	C	T	rs374797206	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	58	0	ENST00000308748.5:c.870C>T	p.Ala290=	p.A290=	ENST00000308748	NM_181718.3	290	gcC/gcT	0	T:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS10660.1	870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCCGGCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF3,Pfam_domain:PF05118	.	T:0	ENSP00000311447	.	1/3	.	.	.	.	.	.	.	.	rs374797206	1/3	PASS	ENST00000308748	Transcript	.	.	ENSG00000174939	27380	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPH1_HUMAN	ASPHD1	HGNC	I3L2Y2_HUMAN,I3L2A5_HUMAN	.	UPI0000197DF0	SNV	ASPHD1,synonymous_variant,p.%3D,ENST00000308748,;ASPHD1,synonymous_variant,p.%3D,ENST00000483405,;ASPHD1,synonymous_variant,p.%3D,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,;SEZ6L2,upstream_gene_variant,,ENST00000346932,;SEZ6L2,upstream_gene_variant,,ENST00000537485,;SEZ6L2,upstream_gene_variant,,ENST00000350527,;KCTD13,downstream_gene_variant,,ENST00000568000,;SEZ6L2,upstream_gene_variant,,ENST00000568380,;KCTD13,downstream_gene_variant,,ENST00000568995,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,synonymous_variant,p.%3D,ENST00000566693,;ASPHD1,synonymous_variant,p.%3D,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000566842,;KCTD13,downstream_gene_variant,,ENST00000308768,;	1122	58	64	SUCCESS
LONP2	83752	.	GRCh37	16	48385505	48385505	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	71	0	ENST00000285737.4:c.2351A>C	p.Lys784Thr	p.K784T	ENST00000285737	NM_031490.2	784	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS10734.1	2351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTAAAGACA	NONE	.	.	HAMAP:MF_03121,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00763,Pfam_domain:PF05362,PIRSF_domain:PIRSF001174,Superfamily_domains:SSF54211,Prints_domain:PR00830	.	.	ENSP00000285737	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000285737	Transcript	.	.	ENSG00000102910	20598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LONP2_HUMAN	LONP2	HGNC	Q9BU35_HUMAN	.	UPI000000DCD1	SNV	LONP2,missense_variant,p.Lys154Thr,ENST00000565867,;LONP2,missense_variant,p.Lys740Thr,ENST00000535754,;LONP2,missense_variant,p.Lys784Thr,ENST00000285737,;LONP2,non_coding_transcript_exon_variant,,ENST00000564259,;SIAH1,downstream_gene_variant,,ENST00000565620,;LONP2,3_prime_UTR_variant,,ENST00000566755,;LONP2,downstream_gene_variant,,ENST00000416006,;LONP2,upstream_gene_variant,,ENST00000565185,;LONP2,upstream_gene_variant,,ENST00000566719,;SIAH1,downstream_gene_variant,,ENST00000568007,;	2444	71	47	SUCCESS
KRTAP4-1	85285	.	GRCh37	17	39341432	39341432	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	107	0	ENST00000398472.1:c.-326C>G		p.*109*	ENST00000398472				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAGTCGAT	NONE	.	.	.	.	.	ENSP00000381489	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000398472	Transcript	.	.	ENSG00000198443	18907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA41_HUMAN	KRTAP4-1	HGNC	.	.	UPI0000246F4A	SNV	KRTAP4-1,5_prime_UTR_variant,,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000398470,;KRTAP9-1,upstream_gene_variant,,ENST00000318329,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;	163	107	101	SUCCESS
KRT15	3866	.	GRCh37	17	39670412	39670412	+	intron_variant	Intron	DEL	C	C	-	rs780454273	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	40	0	ENST00000254043.3:c.1274-40del		p.*425*	ENST00000254043	NM_002275.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11398.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACCTCCCCGC	NONE	.	.	.	.	.	ENSP00000254043	.	.	.	.	.	.	.	.	.	.	rs780454273	.	PASS	ENST00000254043	Transcript	.	.	ENSG00000171346	6421	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1C15_HUMAN	KRT15	HGNC	.	.	UPI000013CE0E	deletion	KRT15,3_prime_UTR_variant,,ENST00000393981,;KRT15,intron_variant,,ENST00000393976,;KRT15,intron_variant,,ENST00000254043,;KRT15,intron_variant,,ENST00000393974,;KRT15,downstream_gene_variant,,ENST00000458290,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,intron_variant,,ENST00000586794,;KRT15,downstream_gene_variant,,ENST00000470004,;KRT15,downstream_gene_variant,,ENST00000497016,;KRT15,downstream_gene_variant,,ENST00000463447,;	.	40	54	SUCCESS
ROCK1	6093	.	GRCh37	18	18625364	18625364	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	58	0	ENST00000399799.2:c.479A>G	p.Asp160Gly	p.D160G	ENST00000399799	NM_005406.2	160	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS11870.2	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATCTCCA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF037568,Superfamily_domains:SSF56112	.	.	ENSP00000382697	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000399799	Transcript	.	.	ENSG00000067900	10251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ROCK1_HUMAN	ROCK1	HGNC	.	.	UPI000006F0A4	SNV	ROCK1,missense_variant,p.Asp160Gly,ENST00000399799,;ROCK1,non_coding_transcript_exon_variant,,ENST00000582445,;	1420	58	50	SUCCESS
RLN3	117579	.	GRCh37	19	14139180	14139180	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	54	143	0	ENST00000431365.2:c.164C>A	p.Ser55Ter	p.S55*	ENST00000431365	NM_080864.2	55	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS12302.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATCAGACA	NONE	.	.	hmmpanther:PTHR20968,hmmpanther:PTHR20968:SF0,Pfam_domain:PF00049,SMART_domains:SM00078,Superfamily_domains:SSF56994	.	.	ENSP00000397415	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000431365	Transcript	.	.	ENSG00000171136	17135	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REL3_HUMAN	RLN3	HGNC	.	.	UPI0000042374	SNV	RLN3,stop_gained,p.Ser55Ter,ENST00000431365,;RLN3,stop_gained,p.Ser55Ter,ENST00000585987,;IL27RA,upstream_gene_variant,,ENST00000263379,;CTB-55O6.4,downstream_gene_variant,,ENST00000590528,;	221	143	126	SUCCESS
MKNK2	2872	.	GRCh37	19	2042023	2042023	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	54	0	ENST00000250896.3:c.761C>T	p.Ala254Val	p.A254V	ENST00000250896	NM_199054.2	254	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS12080.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGCCGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000250896	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000250896	Transcript	.	.	ENSG00000099875	7111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.212)	.	deleterious(0.01)	.	MKNK2_HUMAN	MKNK2	HGNC	K7EIN7_HUMAN,B4DEQ4_HUMAN,B3KS07_HUMAN,A4CYL7_HUMAN	.	UPI000006E9B4	SNV	MKNK2,missense_variant,p.Ala123Val,ENST00000541165,;MKNK2,missense_variant,p.Ala254Val,ENST00000591601,;MKNK2,missense_variant,p.Ala254Val,ENST00000309340,;MKNK2,missense_variant,p.Ala254Val,ENST00000250896,;MKNK2,5_prime_UTR_variant,,ENST00000591588,;MKNK2,5_prime_UTR_variant,,ENST00000588014,;MKNK2,5_prime_UTR_variant,,ENST00000591142,;MKNK2,upstream_gene_variant,,ENST00000589441,;MKNK2,downstream_gene_variant,,ENST00000589534,;MKNK2,downstream_gene_variant,,ENST00000589509,;MKNK2,3_prime_UTR_variant,,ENST00000586828,;MKNK2,non_coding_transcript_exon_variant,,ENST00000587416,;MKNK2,non_coding_transcript_exon_variant,,ENST00000586620,;MKNK2,non_coding_transcript_exon_variant,,ENST00000585667,;MKNK2,downstream_gene_variant,,ENST00000588346,;	1006	54	55	SUCCESS
MKNK2	2872	.	GRCh37	19	2042024	2042024	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	52	0	ENST00000250896.3:c.760G>A	p.Ala254Thr	p.A254T	ENST00000250896	NM_199054.2	254	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12080.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGCCGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000250896	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000250896	Transcript	.	.	ENSG00000099875	7111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0.01)	.	MKNK2_HUMAN	MKNK2	HGNC	K7EIN7_HUMAN,B4DEQ4_HUMAN,B3KS07_HUMAN,A4CYL7_HUMAN	.	UPI000006E9B4	SNV	MKNK2,missense_variant,p.Ala123Thr,ENST00000541165,;MKNK2,missense_variant,p.Ala254Thr,ENST00000591601,;MKNK2,missense_variant,p.Ala254Thr,ENST00000309340,;MKNK2,missense_variant,p.Ala254Thr,ENST00000250896,;MKNK2,5_prime_UTR_variant,,ENST00000591588,;MKNK2,5_prime_UTR_variant,,ENST00000588014,;MKNK2,5_prime_UTR_variant,,ENST00000591142,;MKNK2,upstream_gene_variant,,ENST00000589441,;MKNK2,downstream_gene_variant,,ENST00000589534,;MKNK2,downstream_gene_variant,,ENST00000589509,;MKNK2,3_prime_UTR_variant,,ENST00000586828,;MKNK2,non_coding_transcript_exon_variant,,ENST00000587416,;MKNK2,non_coding_transcript_exon_variant,,ENST00000586620,;MKNK2,non_coding_transcript_exon_variant,,ENST00000585667,;MKNK2,downstream_gene_variant,,ENST00000588346,;	1005	52	54	SUCCESS
PRR12	57479	.	GRCh37	19	50100111	50100111	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	27	0	ENST00000418929.2:c.2519C>T	p.Pro840Leu	p.P840L	ENST00000418929	NM_020719.1	840	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS46143.1	2519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	.	.	ENSP00000394510	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000418929	Transcript	.	.	ENSG00000126464	29217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,missense_variant,p.Pro840Leu,ENST00000418929,;	2531	27	36	SUCCESS
USP29	57663	.	GRCh37	19	57641581	57641581	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs148182755	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	35	89	0	ENST00000254181.4:c.1538G>T	p.Arg513Leu	p.R513L	ENST00000254181	NM_020903.2	513	cGc/cTc	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS33124.1	1538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACGCTATA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	A:0	.	ENSP00000254181	A:0.001	4/4	.	.	.	.	.	.	.	.	rs148182755	4/4	PASS	ENST00000254181	Transcript	.	A:0.0002	ENSG00000131864	18563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	A:0	deleterious(0.01)	.	UBP29_HUMAN	USP29	HGNC	M0QZL0_HUMAN,A1L447_HUMAN	.	UPI0000137A01	SNV	USP29,missense_variant,p.Arg513Leu,ENST00000598197,;USP29,missense_variant,p.Arg513Leu,ENST00000254181,;USP29,downstream_gene_variant,,ENST00000600940,;ZIM3,downstream_gene_variant,,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;	1992	89	70	SUCCESS
C3	718	.	GRCh37	19	6707900	6707900	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1358823675	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	81	0	ENST00000245907.6:c.1886C>T	p.Pro629Leu	p.P629L	ENST00000245907	NM_000064.2	629	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32883.1	1886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGGGGTG	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	.	.	ENSP00000245907	.	15/41	.	.	.	.	.	.	.	.	.	15/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	deleterious(0.01)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Pro629Leu,ENST00000245907,;C3,downstream_gene_variant,,ENST00000594270,;C3,downstream_gene_variant,,ENST00000597442,;C3,downstream_gene_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000595577,;	1979	81	77	SUCCESS
TAS1R3	83756	.	GRCh37	1	1266805	1266805	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	157	0	ENST00000339381.5:c.80A>C	p.Gln27Pro	p.Q27P	ENST00000339381	NM_152228.1	27	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS30556.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACAGCAAC	NONE	.	.	hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF2,Gene3D:3.40.50.2300	.	.	ENSP00000344411	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000339381	Transcript	.	.	ENSG00000169962	15661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	tolerated(0.24)	.	TS1R3_HUMAN	TAS1R3	HGNC	.	.	UPI0000051F47	SNV	TAS1R3,missense_variant,p.Gln27Pro,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000378891,;GLTPD1,downstream_gene_variant,,ENST00000488011,;GLTPD1,downstream_gene_variant,,ENST00000343938,;DVL1,downstream_gene_variant,,ENST00000378888,;GLTPD1,downstream_gene_variant,,ENST00000464957,;	112	157	125	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144867973	144867973	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	24	172	0	ENST00000369354.3:c.5466T>A	p.Ser1822=	p.S1822=	ENST00000369354		1822	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS55627.1	5466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGATAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	33/44	.	.	.	.	.	.	.	.	.	33/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,upstream_gene_variant,,ENST00000530130,;RP4-791M13.4,downstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000526664,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,upstream_gene_variant,,ENST00000494734,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000481227,;PDE4DIP,upstream_gene_variant,,ENST00000527901,;	5757	172	146	SUCCESS
KAZN	23254	.	GRCh37	1	14925346	14925361	+	5_prime_UTR_variant	5'UTR	DEL	GGCGCTGCCGGTGCCT	GGCGCTGCCGGTGCCT	AGC	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	GGCGCTGCCGGTGCCT	GGCGCTGCCGGTGCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	58	0	ENST00000376030.2:c.-148_-133delinsAGC		p.*50*	ENST00000376030	NM_201628.2			0	.	.	.	.	.	AGC	.	protein_coding	YES	CCDS152.2	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGAACCGGCGCTGCCGGTGCCTGGGGG	NONE	.	.	.	.	.	ENSP00000365198	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000376030	Transcript	.	.	ENSG00000189337	29173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAZRN_HUMAN	KAZN	HGNC	B4DEV2_HUMAN,B0QYQ6_HUMAN	.	UPI0000E1E68A	substitution	KAZN,5_prime_UTR_variant,,ENST00000376030,;KAZN,5_prime_UTR_variant,,ENST00000422387,;KAZN,5_prime_UTR_variant,,ENST00000503743,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;	147-162	58	59	SUCCESS
ZNF687	57592	.	GRCh37	1	151260390	151260390	+	synonymous_variant	Silent	SNP	C	C	T	rs750476224	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	77	0	ENST00000324048.5:c.1623C>T	p.Ala541=	p.A541=	ENST00000324048		541	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS992.1	1623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCCTTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402,SMART_domains:SM00355	.	.	ENSP00000319829	.	3/10	.	.	.	.	.	.	.	.	rs750476224	3/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,synonymous_variant,p.%3D,ENST00000324048,;ZNF687,synonymous_variant,p.%3D,ENST00000368879,;ZNF687,synonymous_variant,p.%3D,ENST00000426871,;ZNF687,synonymous_variant,p.%3D,ENST00000336715,;PI4KB,downstream_gene_variant,,ENST00000455060,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368875,;PI4KB,downstream_gene_variant,,ENST00000368874,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000529142,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000368872,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,synonymous_variant,p.%3D,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	2593	77	74	SUCCESS
CTRC	11330	.	GRCh37	1	15772242	15772242	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	rs1428850483	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	66	0	ENST00000375949.4:c.790G>T	p.Glu264Ter	p.E264*	ENST00000375949	NM_007272.2	264	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS156.1	790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACGAGGTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24250:SF25,hmmpanther:PTHR24250,Gene3D:2.40.10.10,Superfamily_domains:SSF50494	.	.	ENSP00000365116	.	7/8	.	.	.	.	.	.	.	.	COSM1687034	7/8	PASS	ENST00000375949	Transcript	.	.	ENSG00000162438	2523	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CTRC_HUMAN	CTRC	HGNC	.	.	UPI0000000C11	SNV	CTRC,stop_gained,p.Glu264Ter,ENST00000375949,;CTRC,splice_region_variant,,ENST00000375943,;CTRC,splice_region_variant,,ENST00000483406,;CTRC,downstream_gene_variant,,ENST00000476813,;	816	66	45	SUCCESS
VSIG8	391123	.	GRCh37	1	159826324	159826324	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	107	87	0	ENST00000368100.1:c.762G>C	p.Val254=	p.V254=	ENST00000368100	NM_001013661.1	254	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS30913.1	762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTCACCTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF75,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357080	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000368100	Transcript	.	.	ENSG00000243284	32063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSIG8_HUMAN	VSIG8	HGNC	.	.	UPI0000458A8F	SNV	VSIG8,synonymous_variant,p.%3D,ENST00000368100,;C1orf204,upstream_gene_variant,,ENST00000368102,;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;	898	87	143	SUCCESS
NBPF1	55672	.	GRCh37	1	16902833	16902833	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs764751382	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	513	37	748	1	ENST00000430580.2:c.2048G>C	p.Gly683Ala	p.G683A	ENST00000430580	NM_017940.4	683	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	.	2048	MUTECT|MUSE	.	CCTGCCCCTGG	NONE	.	.	hmmpanther:PTHR14199:SF16,hmmpanther:PTHR14199	.	.	ENSP00000474456	.	19/29	.	.	.	.	.	.	.	.	rs764751382	19/29	PASS	ENST00000430580	Transcript	.	.	ENSG00000219481	26088	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious(0.02)	.	.	NBPF1	HGNC	S4R3W5_HUMAN,S4R3K2_HUMAN,S4R3H5_HUMAN,Q3BBU8_HUMAN	.	UPI0000E04FDF	SNV	NBPF1,missense_variant,p.Gly683Ala,ENST00000430580,;NBPF1,missense_variant,p.Gly48Ala,ENST00000287968,;NBPF1,missense_variant,p.Gly141Ala,ENST00000432949,;NBPF1,upstream_gene_variant,,ENST00000420031,;NBPF1,3_prime_UTR_variant,,ENST00000392963,;	2936	749	551	SUCCESS
FLVCR1	28982	.	GRCh37	1	213031877	213031877	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs35119480	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	52	69	0	ENST00000366971.4:c.83G>A	p.Gly28Asp	p.G28D	ENST00000366971	NM_014053.3	28	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1510.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGCGCGC	NONE	.	.	.	.	.	ENSP00000355938	.	1/10	.	.	.	.	.	.	.	.	rs35119480	1/10	PASS	ENST00000366971	Transcript	.	.	ENSG00000162769	24682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.68)	.	FLVC1_HUMAN	FLVCR1	HGNC	.	.	UPI000006D3BB	SNV	FLVCR1,missense_variant,p.Gly28Asp,ENST00000366971,;FLVCR1,upstream_gene_variant,,ENST00000419102,;FLVCR1-AS1,upstream_gene_variant,,ENST00000424044,;FLVCR1-AS1,upstream_gene_variant,,ENST00000426161,;FLVCR1-AS1,upstream_gene_variant,,ENST00000356684,;RP11-348H3.5,upstream_gene_variant,,ENST00000422630,;	281	69	105	SUCCESS
OBSCN	84033	.	GRCh37	1	228494675	228494675	+	synonymous_variant	Silent	SNP	C	C	T	rs374501640	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	55	166	1	ENST00000422127.1:c.12000C>T	p.Cys4000=	p.C4000=	ENST00000422127	NM_001098623.2	4000	tgC/tgT	0	T:0.0009	T:0.0008	.	T:0	.	T	C	protein_coding	YES	CCDS59204.1	14871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCGAGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	T:0	T:0.0001	ENSP00000455507	T:0	56/116	.	.	.	.	.	.	.	.	rs374501640	56/116	PASS	ENST00000570156	Transcript	.	T:0.0002	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000359599,;RP5-1139B12.4,upstream_gene_variant,,ENST00000602778,;OBSCN,downstream_gene_variant,,ENST00000602685,;OBSCN,downstream_gene_variant,,ENST00000602832,;	14945	168	231	SUCCESS
CNST	163882	.	GRCh37	1	246811256	246811256	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755561197	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	208	54	171	0	ENST00000366513.4:c.1753T>A	p.Ser585Thr	p.S585T	ENST00000366513	NM_152609.2	585	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1628.1	1753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCATCCTAT	NONE	.	.	.	.	.	ENSP00000355470	.	9/11	.	.	.	.	.	.	.	.	rs755561197	9/11	PASS	ENST00000366513	Transcript	.	.	ENSG00000162852	26486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	CNST_HUMAN	CNST	HGNC	.	.	UPI000013E1DF	SNV	CNST,missense_variant,p.Ser585Thr,ENST00000366513,;CNST,missense_variant,p.Ser585Thr,ENST00000366512,;CNST,non_coding_transcript_exon_variant,,ENST00000483271,;	2022	171	262	SUCCESS
MED8	112950	.	GRCh37	1	43852493	43852529	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TGGGGATGGGGCAGCAAGGCAGTGACTCAGTCCAACC	TGGGGATGGGGCAGCAAGGCAGTGACTCAGTCCAACC	-	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	TGGGGATGGGGCAGCAAGGCAGTGACTCAGTCCAACC	TGGGGATGGGGCAGCAAGGCAGTGACTCAGTCCAACC	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	86	0	ENST00000372457.4:c.411_411+36del		p.X137_splice	ENST00000372457	NM_201542.4	137		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS486.2	411-?	INDELOCATOR*|PINDEL	.	ATGGGATGGGGATGGGGCAGCAAGGCAGTGACTCAGTCCAACCTGGGC	NONE	.	.	.	.	.	ENSP00000290663	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000290663	Transcript	.	.	ENSG00000159479	19971	.	.	HIGH	4/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MED8_HUMAN	MED8	HGNC	.	.	UPI000019C3FD	deletion	MED8,splice_donor_variant,,ENST00000290663,;MED8,splice_donor_variant,,ENST00000372457,;MED8,splice_donor_variant,,ENST00000372455,;SZT2,upstream_gene_variant,,ENST00000372450,;SZT2,upstream_gene_variant,,ENST00000310739,;SZT2,upstream_gene_variant,,ENST00000562955,;RP1-92O14.6,intron_variant,,ENST00000436713,;MED8,splice_donor_variant,,ENST00000473560,;MED8,splice_donor_variant,,ENST00000460803,;SZT2,upstream_gene_variant,,ENST00000406439,;SZT2,upstream_gene_variant,,ENST00000357658,;	455-?	86	54	SUCCESS
LPHN2	0	.	GRCh37	1	82450308	82450308	+	synonymous_variant	Silent	SNP	C	C	T	rs879246111	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	67	193	0	ENST00000370717.2:c.3357C>T	p.Cys1119=	p.C1119=	ENST00000370717		1119	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS689.1	3273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCTGTGG	NONE	.	.	hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF02354,Superfamily_domains:SSF81321	.	.	ENSP00000322270	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,synonymous_variant,p.%3D,ENST00000370730,;LPHN2,synonymous_variant,p.%3D,ENST00000335786,;LPHN2,synonymous_variant,p.%3D,ENST00000370713,;LPHN2,synonymous_variant,p.%3D,ENST00000370717,;LPHN2,synonymous_variant,p.%3D,ENST00000370727,;LPHN2,synonymous_variant,p.%3D,ENST00000370725,;LPHN2,synonymous_variant,p.%3D,ENST00000319517,;LPHN2,synonymous_variant,p.%3D,ENST00000271029,;LPHN2,synonymous_variant,p.%3D,ENST00000370728,;LPHN2,synonymous_variant,p.%3D,ENST00000359929,;LPHN2,synonymous_variant,p.%3D,ENST00000370715,;LPHN2,synonymous_variant,p.%3D,ENST00000370723,;LPHN2,synonymous_variant,p.%3D,ENST00000402328,;LPHN2,synonymous_variant,p.%3D,ENST00000370721,;LPHN2,synonymous_variant,p.%3D,ENST00000394879,;LPHN2,synonymous_variant,p.%3D,ENST00000449420,;LPHN2,non_coding_transcript_exon_variant,,ENST00000472424,;LPHN2,non_coding_transcript_exon_variant,,ENST00000498776,;LPHN2,non_coding_transcript_exon_variant,,ENST00000464775,;LPHN2,intron_variant,,ENST00000469377,;LPHN2,upstream_gene_variant,,ENST00000464551,;	3489	194	163	SUCCESS
ARFGEF2	10564	.	GRCh37	20	47592685	47592685	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	82	243	0	ENST00000371917.4:c.1907A>G	p.Gln636Arg	p.Q636R	ENST00000371917	NM_006420.2	636	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS13411.1	1907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAATTTG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Gene3D:1.10.220.20,Superfamily_domains:SSF48425	.	.	ENSP00000360985	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000371917	Transcript	1	.	ENSG00000124198	15853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.06)	.	BIG2_HUMAN	ARFGEF2	HGNC	Q59FR3_HUMAN	.	UPI000013D378	SNV	ARFGEF2,missense_variant,p.Gln636Arg,ENST00000371917,;	1907	243	195	SUCCESS
B3GALT5	10317	.	GRCh37	21	41033065	41033065	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	82	0	ENST00000343118.4:c.579G>T	p.Gln193His	p.Q193H	ENST00000343118	NM_033171.2	193	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS13667.1	579	MUTECT|MUSE	.	AGGCAGCCATT	NONE	.	.	hmmpanther:PTHR11214:SF18,hmmpanther:PTHR11214,Pfam_domain:PF01762	.	.	ENSP00000369994	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000380620	Transcript	.	.	ENSG00000183778	920	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.06)	.	B3GT5_HUMAN	B3GALT5	HGNC	.	.	UPI0000126713	SNV	B3GALT5,missense_variant,p.Gln193His,ENST00000380620,;B3GALT5,missense_variant,p.Gln193His,ENST00000398714,;B3GALT5,missense_variant,p.Gln193His,ENST00000343118,;B3GALT5,missense_variant,p.Gln193His,ENST00000380618,;AF064860.5,intron_variant,,ENST00000416555,;	1171	82	42	SUCCESS
NDUFV3	4731	.	GRCh37	21	44324122	44324122	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	46	124	0	ENST00000340344.4:c.170-4852C>T		p.*57*	ENST00000340344	NM_001001503.1	334		0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33572.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCTGGAA	NONE	.	.	hmmpanther:PTHR17117,hmmpanther:PTHR17117:SF1	.	.	ENSP00000346196	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000354250	Transcript	.	.	ENSG00000160194	7719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUV3_HUMAN	NDUFV3	HGNC	.	.	UPI000037848B	SNV	NDUFV3,synonymous_variant,p.%3D,ENST00000354250,;NDUFV3,intron_variant,,ENST00000340344,;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460259,;NDUFV3,downstream_gene_variant,,ENST00000460740,;	1069	124	62	SUCCESS
EP300	2033	.	GRCh37	22	41568575	41568575	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	66	168	0	ENST00000263253.7:c.4525T>A	p.Trp1509Arg	p.W1509R	ENST00000263253	NM_001429.3	1509	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS14010.1	4525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTGGCCC	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4,Pfam_domain:PF08214	.	.	ENSP00000263253	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,missense_variant,p.Trp1509Arg,ENST00000263253,;RNU6-375P,downstream_gene_variant,,ENST00000517050,;RP1-85F18.6,intron_variant,,ENST00000415054,;RP1-85F18.5,downstream_gene_variant,,ENST00000420537,;	5744	168	130	SUCCESS
EFCAB6	64800	.	GRCh37	22	43976358	43976358	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	90	0	ENST00000262726.7:c.3214C>T	p.Leu1072=	p.L1072=	ENST00000262726	NM_022785.3	1072	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14049.1	3214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCAGCTGGG	NONE	.	.	Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR10891:SF220,hmmpanther:PTHR10891,PROSITE_profiles:PS50222	.	.	ENSP00000262726	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000262726	Transcript	.	.	ENSG00000186976	24204	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	SNV	EFCAB6,synonymous_variant,p.%3D,ENST00000262726,;EFCAB6,synonymous_variant,p.%3D,ENST00000396231,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000468552,;	3468	90	88	SUCCESS
CELSR1	9620	.	GRCh37	22	46792558	46792558	+	synonymous_variant	Silent	SNP	C	C	T	rs752880984	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	86	0	ENST00000262738.3:c.5787G>A	p.Pro1929=	p.P1929=	ENST00000262738	NM_014246.1	1929	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14076.1	5787	MUTECT|MUSE	.	CCCTGCGGGGA	NONE	byFrequency	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR24026,PROSITE_profiles:PS50026	.	.	ENSP00000262738	.	13/35	.	.	.	.	.	.	.	.	rs752880984	13/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,synonymous_variant,p.%3D,ENST00000262738,;	5787	86	76	SUCCESS
NPAS2	4862	.	GRCh37	2	101437534	101437534	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	56	154	0	ENST00000335681.5:c.-23+658G>T		p.*8*	ENST00000335681	NM_002518.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2048.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGAGGAG	NONE	.	.	.	.	.	ENSP00000338283	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	.	.	MODIFIER	1/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	SNV	NPAS2,stop_gained,p.Glu16Ter,ENST00000427413,;NPAS2,stop_gained,p.Glu16Ter,ENST00000542504,;NPAS2,intron_variant,,ENST00000335681,;AC092168.2,upstream_gene_variant,,ENST00000430586,;	.	154	125	SUCCESS
TTN	7273	.	GRCh37	2	179413257	179413257	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	47	107	0	ENST00000591111.1:c.88173T>C	p.Ser29391=	p.S29391=	ENST00000591111		29391	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS59435.1	93096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCAGATCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	339/363	.	.	.	.	.	.	.	.	.	339/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;	93321	107	126	SUCCESS
TTN	7273		GRCh37	2	179519705	179523961	+	splice_donor_variant,splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGAACCAACGACAAAAACCACGTGATTATCTCAATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCAGGAACAA	CTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGAACCAACGACAAAAACCACGTGATTATCTCAATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCAGGAACAA	-	novel		TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	CTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGAACCAACGACAAAAACCACGTGATTATCTCAATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCAGGAACAA	CTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGAACCAACGACAAAAACCACGTGATTATCTCAATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCAGGAACAA														192	49	266	0	ENST00000591111.1:c.34265-440_34372del		p.X11422_splice	ENST00000591111		11422		0						-	VVPEKKVPVPPPKKPEVPPTKGRHPLVAVFDIVCLSLLCLIMKILISLKSQRCQRQLSQKRRCLKLFLPNRKVLPLKVMPKLYKL*EKNNCYFN*EITC*KSYYIKMI*F*RKQMSITIQNILVGVYMQKASIVFTFSKHKLQISLKCLKCCHRRKWSQKRKYRCLLPKSQKLHLLKVGIITHCQSGGPGERLYRSVRRSHKLYLLG*MWSRYSPFIASN*KILISSKFLKLLKKLYLKRKHLWLCPKNRKPHVQKVFIPSPLLRKTYRLYPSQSL*YIPSPFINYKNTNIFQVPEAAQEVVPEKKIPKAPIKKPEAPAVTGTCQLNLILQKKSLFHS*KQF*SIPLH*PKYKTTNIFQVPEVPQEAAEKEIPVAPPKKPEAPIVPGTL*P*LHSAEEISPLLL*TILAHFSSLT*V*NY*YLSSA*SSRSCPRKESS*GSSHKTRSPTCHRYFLPLSFFCRRNISSDLRNILLHLSH*PK*KTTNIFQVPEVPQEIVPEKKTLVLPKKPEVPPVTGTCHLTLSFRRSNSSAVYFASSLHSSTCNFTNIF*VPEAPKEVVLEKKVPSTPPKKPEVPPVKGICH*F*ASDDLSLVLWKIFFFLYIYIFLLYFKF*GTCAQRAGCYVCIHVPCWCAAPTNSSFTLGMSPNAIPPPSPHLTTHSGVWCPPSCIHVFSLFNSHL*MRTCNVWFFILVIVCQE*WFPVSSMSLQRT*THHFLWLHSIPWSICGTFS*SSLSLMDIWVGSKSLLI*IVPQ*TYVCTCLYSSMIYNPLGIYPVMGWLGQMVFLVLDP*GIATLTSTMVELVYSPSNIVKVFLLLHILSSACRFLTF**SPF*LV*DGISLWF*FAFL*WPVMMSIFSCVFWLHKCLFLRSVCLYPSPTC*WGCFFLTRLFEFIVDSGY*PFVR*VDCKNFLPFCGLPVHSDGSTFAVQKLFSLIRSYLSILAFVTIAFGILDMKSLPMPMS*MVLPRFSSRVFMVLGLTFKSLLHLELIFV*GVRKGSNFSFLHMASQFSQHHLLNREPFPHFLFLSGLSKIRWLQMCGIILRALFCSIGLYLCFGTSTMLFWLL*PCNTVA*RLQLCSFGLGLTWQCGLFFGSI*TLK*FFPIL*RESLIA*RRWH*IYKLPWAVWPFSRY*FFLSMSMECSSICVLFYFVEQWFVVLLEEVLHIPCKLDS*VFYSL*SNCEWEVTHDLALCLSVIGA*ECL*SLHIDFVS*DFAEVAYQLKEILG*DDGVF*IYNHAICKQGQFDFLFSLLNTLYFFLLPDCPGQNFQHYVE*EW*ERASLSCASFQRECFQFLPIQYDTGCGFVINSSYYFEICPINT*FIESL*HEGLLNFVKGPFCIY*DNHVVFVVGSVYMMDYVY*FLYVESAFHPRDEAHLIMVDKLFDVLLENIFLVVFIMPKCNFTNIFQVPEAPKE/E	protein_coding	YES	CCDS59435.1	37307-38056	INDELOCATOR*|PINDEL		CAACTTCTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGAACCAACGACAAAAACCACGTGATTATCTCAATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCAGGAACAACTTCT	NONE			Low_complexity_(Seg):seg,Low_complexity_(Seg):seg,Low_complexity_(Seg):seg,Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF02818,Pfam_domain:PF02818			ENSP00000467141		181-190/363										181-190/363	PASS	ENST00000589042	Transcript			ENSG00000155657	12403			HIGH	181-189/362	PRIMARY					2								TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN		UPI000264F4A1	deletion	TTN,splice_acceptor_variant,,ENST00000342992,;TTN,splice_acceptor_variant,p.ValValProGluLysLysValProValProProProLysLysProGluValProProThrLysGlyArgHisProLeuValAlaValPheAspIleValCysLeuSerLeuLeuCysLeuIleMetLysIleLeuIleSerLeuLysSerGlnArgCysGlnArgGlnLeuSerGlnLysArgArgCysLeuLysLeuPheLeuProAsnArgLysValLeuProLeuLysValMetProLysLeuTyrLysLeuTerGluLysAsnAsnCysTyrPheAsnTerGluIleThrCysTerLysSerTyrTyrIleLysMetIleTerPheTerArgLysGlnMetSerIleThrIleGlnAsnIleLeuValGlyValTyrMetGlnLysAlaSerIleValPheThrPheSerLysHisLysLeuGlnIleSerLeuLysCysLeuLysCysCysHisArgArgLysTrpSerGlnLysArgLysTyrArgCysLeuLeuProLysSerGlnLysLeuHisLeuLeuLysValGlyIleIleThrHisCysGlnSerGlyGlyProGlyGluArgLeuTyrArgSerValArgArgSerHisLysLeuTyrLeuLeuGlyTerMetTrpSerArgTyrSerProPheIleAlaSerAsnTerLysIleLeuIleSerSerLysPheLeuLysLeuLeuLysLysLeuTyrLeuLysArgLysHisLeuTrpLeuCysProLysAsnArgLysProHisValGlnLysValPheIleProSerProLeuLeuArgLysThrTyrArgLeuTyrProSerGlnSerLeuTerTyrIleProSerProPheIleAsnTyrLysAsnThrAsnIlePheGlnValProGluAlaAlaGlnGluValValProGluLysLysIleProLysAlaProIleLysLysProGluAlaProAlaValThrGlyThrCysGlnLeuAsnLeuIleLeuGlnLysLysSerLeuPheHisSerTerLysGlnPheTerSerIleProLeuHisTerProLysTyrLysThrThrAsnIlePheGlnValProGluValProGlnGluAlaAlaGluLysGluIleProValAlaProProLysLysProGluAlaProIleValProGlyThrLeuTerProTerLeuHisSerAlaGluGluIleSerProLeuLeuLeuTerThrIleLeuAlaHisPheSerSerLeuThrTerValTerAsnTyrTerTyrLeuSerSerAlaTerSerSerArgSerCysProArgLysGluSerSerTerGlySerSerHisLysThrArgSerProThrCysHisArgTyrPheLeuProLeuSerPhePheCysArgArgAsnIleSerSerAspLeuArgAsnIleLeuLeuHisLeuSerHisTerProLysTerLysThrThrAsnIlePheGlnValProGluValProGlnGluIleValProGluLysLysThrLeuValLeuProLysLysProGluValProProValThrGlyThrCysHisLeuThrLeuSerPheArgArgSerAsnSerSerAlaValTyrPheAlaSerSerLeuHisSerSerThrCysAsnPheThrAsnIlePheTerValProGluAlaProLysGluValValLeuGluLysLysValProSerThrProProLysLysProGluValProProValLysGlyIleCysHisTerPheTerAlaSerAspAspLeuSerLeuValLeuTrpLysIlePhePhePheLeuTyrIleTyrIlePheLeuLeuTyrPheLysPheTerGlyThrCysAlaGlnArgAlaGlyCysTyrValCysIleHisValProCysTrpCysAlaAlaProThrAsnSerSerPheThrLeuGlyMetSerProAsnAlaIleProProProSerProHisLeuThrThrHisSerGlyValTrpCysProProSerCysIleHisValPheSerLeuPheAsnSerHisLeuTerMetArgThrCysAsnValTrpPhePheIleLeuValIleValCysGlnGluTerTrpPheProValSerSerMetSerLeuGlnArgThrTerThrHisHisPheLeuTrpLeuHisSerIleProTrpSerIleCysGlyThrPheSerTerSerSerLeuSerLeuMetAspIleTrpValGlySerLysSerLeuLeuIleTerIleValProGlnTerThrTyrValCysThrCysLeuTyrSerSerMetIleTyrAsnProLeuGlyIleTyrProValMetGlyTrpLeuGlyGlnMetValPheLeuValLeuAspProTerGlyIleAlaThrLeuThrSerThrMetValGluLeuValTyrSerProSerAsnIleValLysValPheLeuLeuLeuHisIleLeuSerSerAlaCysArgPheLeuThrPheTerTerSerProPheTerLeuValTerAspGlyIleSerLeuTrpPheTerPheAlaPheLeuTerTrpProValMetMetSerIlePheSerCysValPheTrpLeuHisLysCysLeuPheLeuArgSerValCysLeuTyrProSerProThrCysTerTrpGlyCysPhePheLeuThrArgLeuPheGluPheIleValAspSerGlyTyrTerProPheValArgTerValAspCysLysAsnPheLeuProPheCysGlyLeuProValHisSerAspGlySerThrPheAlaValGlnLysLeuPheSerLeuIleArgSerTyrLeuSerIleLeuAlaPheValThrIleAlaPheGlyIleLeuAspMetLysSerLeuProMetProMetSerTerMetValLeuProArgPheSerSerArgValPheMetValLeuGlyLeuThrPheLysSerLeuLeuHisLeuGluLeuIlePheValTerGlyValArgLysGlySerAsnPheSerPheLeuHisMetAlaSerGlnPheSerGlnHisHisLeuLeuAsnArgGluProPheProHisPheLeuPheLeuSerGlyLeuSerLysIleArgTrpLeuGlnMetCysGlyIleIleLeuArgAlaLeuPheCysSerIleGlyLeuTyrLeuCysPheGlyThrSerThrMetLeuPheTrpLeuLeuTerProCysAsnThrValAlaTerArgLeuGlnLeuCysSerPheGlyLeuGlyLeuThrTrpGlnCysGlyLeuPhePheGlySerIleTerThrLeuLysTerPhePheProIleLeuTerArgGluSerLeuIleAlaTerArgArgTrpHisTerIleTyrLysLeuProTrpAlaValTrpProPheSerArgTyrTerPhePheLeuSerMetSerMetGluCysSerSerIleCysValLeuPheTyrPheValGluGlnTrpPheValValLeuLeuGluGluValLeuHisIleProCysLysLeuAspSerTerValPheTyrSerLeuTerSerAsnCysGluTrpGluValThrHisAspLeuAlaLeuCysLeuSerValIleGlyAlaTerGluCysLeuTerSerLeuHisIleAspPheValSerTerAspPheAlaGluValAlaTyrGlnLeuLysGluIleLeuGlyTerAspAspGlyValPheTerIleTyrAsnHisAlaIleCysLysGlnGlyGlnPheAspPheLeuPheSerLeuLeuAsnThrLeuTyrPhePheLeuLeuProAspCysProGlyGlnAsnPheGlnHisTyrValGluTerGluTrpTerGluArgAlaSerLeuSerCysAlaSerPheGlnArgGluCysPheGlnPheLeuProIleGlnTyrAspThrGlyCysGlyPheValIleAsnSerSerTyrTyrPheGluIleCysProIleAsnThrTerPheIleGluSerLeuTerHisGluGlyLeuLeuAsnPheValLysGlyProPheCysIleTyrTerAspAsnHisValValPheValValGlySerValTyrMetMetAspTyrValTyrTerPheLeuTyrValGluSerAlaPheHisProArgAspGluAlaHisLeuIleMetValAspLysLeuPheAspValLeuLeuGluAsnIlePheLeuValValPheIleMetProLysCysAsnPheThrAsnIlePheGlnValProGluAlaProLys12436delextTer?,ENST00000589042,;TTN,splice_acceptor_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000425332,;TTN,upstream_gene_variant,,ENST00000446966,;TTN,upstream_gene_variant,,ENST00000426232,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	37532-38281	266	241	SUCCESS
PFN4	375189	.	GRCh37	2	24344139	24344139	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	104	0	ENST00000313213.4:c.149A>C	p.Asn50Thr	p.N50T	ENST00000313213	NM_199346.1	50	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS1709.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATTCACC	NONE	.	.	hmmpanther:PTHR11604,hmmpanther:PTHR11604:SF2,Pfam_domain:PF00235,Gene3D:3.30.450.30,SMART_domains:SM00392,Superfamily_domains:SSF55770	.	.	ENSP00000322170	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000313213	Transcript	.	.	ENSG00000176732	31103	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.66)	.	PROF4_HUMAN	PFN4	HGNC	.	.	UPI000006CFF1	SNV	PFN4,missense_variant,p.Asn50Thr,ENST00000313213,;PFN4,downstream_gene_variant,,ENST00000436622,;FAM228B,upstream_gene_variant,,ENST00000407625,;FAM228B,upstream_gene_variant,,ENST00000420135,;PFN4,non_coding_transcript_exon_variant,,ENST00000465360,;FAM228B,intron_variant,,ENST00000468799,;FAM228B,intron_variant,,ENST00000486967,;RP11-507M3.1,upstream_gene_variant,,ENST00000584973,;FAM228B,upstream_gene_variant,,ENST00000417898,;	521	104	70	SUCCESS
SLC9C1	285335	.	GRCh37	3	111923076	111923076	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201512353	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	137	1	ENST00000305815.5:c.2161C>T	p.Arg721Cys	p.R721C	ENST00000305815	NM_183061.1	721	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS33817.1	2161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCGTAGTA	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Superfamily_domains:SSF81324	.	.	ENSP00000306627	.	17/29	.	.	.	.	.	.	.	.	rs201512353	17/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	deleterious(0.03)	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,missense_variant,p.Arg673Cys,ENST00000487372,;SLC9C1,missense_variant,p.Arg721Cys,ENST00000305815,;SLC9C1,intron_variant,,ENST00000471295,;	2414	138	100	SUCCESS
ABTB1	80325	.	GRCh37	3	127393211	127393211	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	32	79	0	ENST00000232744.8:c.57-23G>C		p.*19*	ENST00000232744				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3045.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCTCTG	NONE	.	.	.	.	.	ENSP00000232744	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000232744	Transcript	.	.	ENSG00000114626	18275	.	.	MODIFIER	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABTB1_HUMAN	ABTB1	HGNC	.	.	UPI0000035DA3	SNV	ABTB1,5_prime_UTR_variant,,ENST00000453791,;ABTB1,5_prime_UTR_variant,,ENST00000468137,;ABTB1,intron_variant,,ENST00000232744,;ABTB1,intron_variant,,ENST00000393363,;PODXL2,downstream_gene_variant,,ENST00000342480,;ABTB1,intron_variant,,ENST00000466612,;ABTB1,intron_variant,,ENST00000467179,;ABTB1,upstream_gene_variant,,ENST00000491633,;ABTB1,non_coding_transcript_exon_variant,,ENST00000475265,;ABTB1,intron_variant,,ENST00000479280,;ABTB1,intron_variant,,ENST00000483857,;ABTB1,intron_variant,,ENST00000475042,;ABTB1,intron_variant,,ENST00000493365,;ABTB1,upstream_gene_variant,,ENST00000478298,;ABTB1,upstream_gene_variant,,ENST00000464431,;ABTB1,upstream_gene_variant,,ENST00000474129,;ABTB1,upstream_gene_variant,,ENST00000497162,;	.	79	92	SUCCESS
ACAP2	23527	.	GRCh37	3	195017930	195017930	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs746701661	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	61	0	ENST00000326793.6:c.1476A>T	p.Gln492His	p.Q492H	ENST00000326793	NM_012287.5	492	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS33924.1	1476	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTTGGGG	NONE	.	.	PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863	.	.	ENSP00000324287	.	16/23	.	.	.	.	.	.	.	.	rs746701661	16/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.59)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.Gln51His,ENST00000450200,;ACAP2,missense_variant,p.Gln492His,ENST00000326793,;ACAP2,downstream_gene_variant,,ENST00000439758,;ACAP2,non_coding_transcript_exon_variant,,ENST00000475905,;ACAP2,downstream_gene_variant,,ENST00000484296,;	1707	61	44	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	103	139	1	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	140	177	SUCCESS
CISH	1154	.	GRCh37	3	50645253	50645253	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	81	0	ENST00000348721.3:c.562A>G	p.Lys188Glu	p.K188E	ENST00000348721	NM_145071.2	188	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS46834.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTAGGCA	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10385:SF7,hmmpanther:PTHR10385	.	.	ENSP00000409346	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.135)	.	tolerated(0.32)	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	SNV	CISH,missense_variant,p.Lys188Glu,ENST00000348721,;CISH,missense_variant,p.Lys205Glu,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,upstream_gene_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	841	81	107	SUCCESS
CACNA2D3	55799	.	GRCh37	3	54930804	54930804	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	35	109	0	ENST00000288197.5:c.2275A>T	p.Asn759Tyr	p.N759Y	ENST00000288197		759	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS54598.1	2275	RADIA|MUTECT|MUSE	.	AGGAGAACATT	NONE	.	.	hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	.	.	ENSP00000419101	.	26/38	.	.	.	.	.	.	.	.	.	26/38	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.352)	.	deleterious(0.01)	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	SNV	CACNA2D3,missense_variant,p.Asn759Tyr,ENST00000474759,;CACNA2D3,missense_variant,p.Asn759Tyr,ENST00000415676,;CACNA2D3,missense_variant,p.Asn665Tyr,ENST00000490478,;CACNA2D3,missense_variant,p.Asn759Tyr,ENST00000288197,;CACNA2D3-AS1,non_coding_transcript_exon_variant,,ENST00000471265,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;	2323	109	131	SUCCESS
OR5H1	26341	.	GRCh37	3	97851822	97851822	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs776707290	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	90	322	0	ENST00000354565.2:c.281T>A	p.Leu94His	p.L94H	ENST00000354565	NM_001005338.1	94	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS33797.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTCTCTG	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262	.	.	ENSP00000346575	.	1/1	.	.	.	.	.	.	.	.	rs776707290	1/1	PASS	ENST00000354565	Transcript	.	.	ENSG00000231192	8346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0.01)	.	OR5H1_HUMAN	OR5H1	HGNC	.	.	UPI0000197652	SNV	OR5H1,missense_variant,p.Leu94His,ENST00000354565,;RP11-343D2.11,intron_variant,,ENST00000508964,;	281	322	232	SUCCESS
CYP2U1	113612	.	GRCh37	4	108866371	108866371	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1451096151	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	51	146	0	ENST00000332884.6:c.736A>G	p.Ser246Gly	p.S246G	ENST00000332884	NM_183075.2	246	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS34047.1	736	RADIA|MUTECT|MUSE	.	CTAATAGTGAG	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF51,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000333212	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000332884	Transcript	1	.	ENSG00000155016	20582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated(0.33)	.	CP2U1_HUMAN	CYP2U1	HGNC	E9PGH5_HUMAN,B4DQW9_HUMAN	.	UPI0000044231	SNV	CYP2U1,missense_variant,p.Ser37Gly,ENST00000508453,;CYP2U1,missense_variant,p.Ser246Gly,ENST00000332884,;RP11-286E11.1,intron_variant,,ENST00000513071,;RP11-286E11.2,upstream_gene_variant,,ENST00000512428,;	1011	146	109	SUCCESS
CYP2U1	113612	.	GRCh37	4	108866384	108866384	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs200772412	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	52	155	0	ENST00000332884.6:c.749A>C	p.Lys250Thr	p.K250T	ENST00000332884	NM_183075.2	250	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS34047.1	749	RADIA|MUTECT|MUSE	.	CAAGAAAATGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF51,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000333212	.	2/5	.	.	.	.	.	.	.	.	rs200772412	2/5	PASS	ENST00000332884	Transcript	1	.	ENSG00000155016	20582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.014)	.	tolerated(0.45)	.	CP2U1_HUMAN	CYP2U1	HGNC	E9PGH5_HUMAN,B4DQW9_HUMAN	.	UPI0000044231	SNV	CYP2U1,missense_variant,p.Lys41Thr,ENST00000508453,;CYP2U1,missense_variant,p.Lys250Thr,ENST00000332884,;RP11-286E11.1,intron_variant,,ENST00000513071,;RP11-286E11.2,upstream_gene_variant,,ENST00000512428,;	1024	155	116	SUCCESS
PRMT10	0	.	GRCh37	4	148605243	148605243	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	23	0	ENST00000322396.6:c.-105C>T		p.*35*	ENST00000322396	NM_138364.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3771.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGCACAG	NONE	.	.	.	.	.	ENSP00000314396	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000322396	Transcript	.	.	ENSG00000164169	25099	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANM10_HUMAN	PRMT10	HGNC	B3KU92_HUMAN	.	UPI000004971D	SNV	PRMT10,5_prime_UTR_variant,,ENST00000322396,;PRMT10,5_prime_UTR_variant,,ENST00000541232,;PRMT10,5_prime_UTR_variant,,ENST00000514886,;	139	23	24	SUCCESS
MCC	4163	.	GRCh37	5	112720863	112720863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	148	0	ENST00000408903.3:c.217G>T	p.Val73Leu	p.V73L	ENST00000408903	NM_001085377.1	73	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS43351.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACAGACT	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF4,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000386227	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	tolerated_low_confidence(0.33)	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,missense_variant,p.Val73Leu,ENST00000408903,;CTD-2201G3.1,intron_variant,,ENST00000416046,;	633	149	127	SUCCESS
GRAMD3	0	.	GRCh37	5	125759216	125759216	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	61	190	0	ENST00000513040.1:c.129-41902C>G		p.*43*	ENST00000513040	NM_001146319.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54891.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCGCACC	NONE	.	.	.	.	.	ENSP00000426120	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000513040	Transcript	.	.	ENSG00000155324	24911	.	.	MODIFIER	1/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRAM3_HUMAN	GRAMD3	HGNC	Q9BYJ8_HUMAN,B7Z4W8_HUMAN	.	UPI0001914E8F	SNV	GRAMD3,5_prime_UTR_variant,,ENST00000542322,;GRAMD3,5_prime_UTR_variant,,ENST00000543198,;GRAMD3,5_prime_UTR_variant,,ENST00000515200,;GRAMD3,5_prime_UTR_variant,,ENST00000285689,;GRAMD3,5_prime_UTR_variant,,ENST00000544396,;GRAMD3,intron_variant,,ENST00000513040,;GRAMD3,intron_variant,,ENST00000506445,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000505720,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000513913,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000514932,;GRAMD3,5_prime_UTR_variant,,ENST00000514099,;GRAMD3,5_prime_UTR_variant,,ENST00000513978,;	.	190	138	SUCCESS
CDHR2	54825	.	GRCh37	5	176002561	176002561	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	95	0	ENST00000261944.5:c.823C>T	p.Pro275Ser	p.P275S	ENST00000261944	NM_017675.4	275	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS34297.1	823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACCCTGTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF286,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000424565	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000510636	Transcript	.	.	ENSG00000074276	18231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.62)	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,missense_variant,p.Pro275Ser,ENST00000261944,;CDHR2,missense_variant,p.Pro275Ser,ENST00000506348,;CDHR2,missense_variant,p.Pro275Ser,ENST00000510636,;	1097	95	72	SUCCESS
HS3ST5	222537	.	GRCh37	6	114378489	114378489	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374141405	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	128	0	ENST00000312719.5:c.973C>T	p.Arg325Cys	p.R325C	ENST00000312719		325	Cgc/Tgc	0	A:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS34517.1	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCGCAATT	SITE|p.R325C|c.973C>T|3	byCluster	.	hmmpanther:PTHR10605:SF33,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	A:0.0001	ENSP00000427888	.	5/5	.	.	.	.	.	.	.	.	rs374141405,COSM1072326	5/5	PASS	ENST00000312719	Transcript	.	.	ENSG00000249853	19419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(0.15)	0,1	HS3S5_HUMAN	HS3ST5	HGNC	.	.	UPI00000740A8	SNV	HS3ST5,missense_variant,p.Arg325Cys,ENST00000411826,;HS3ST5,missense_variant,p.Arg325Cys,ENST00000312719,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;RP3-399L15.3,intron_variant,,ENST00000519104,;	2162	128	93	SUCCESS
LAMA2	3908	.	GRCh37	6	129663536	129663536	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	95	0	ENST00000421865.2:c.4360G>C	p.Gly1454Arg	p.G1454R	ENST00000421865	NM_001079823.1	1454	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS5138.1	4360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTGGATAC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000400365	.	30/65	.	.	.	.	.	.	.	.	.	30/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Gly1454Arg,ENST00000421865,;	4409	95	83	SUCCESS
MAP7	9053	.	GRCh37	6	136709604	136709604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	43	108	1	ENST00000354570.3:c.453G>T	p.Gln151His	p.Q151H	ENST00000354570	NM_001198616.1	151	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS56455.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCTGGCT	NONE	.	.	hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4	.	.	ENSP00000414712	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000454590	Transcript	.	.	ENSG00000135525	6869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0.02)	.	MAP7_HUMAN	MAP7	HGNC	.	.	UPI0001AE72EF	SNV	MAP7,missense_variant,p.Gln136His,ENST00000544465,;MAP7,missense_variant,p.Gln173His,ENST00000454590,;MAP7,missense_variant,p.Gln151His,ENST00000354570,;MAP7,missense_variant,p.Gln173His,ENST00000438100,;MAP7,missense_variant,p.Gln5His,ENST00000432797,;	637	109	121	SUCCESS
PARK2	0	.	GRCh37	6	163148801	163148801	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	43	0	ENST00000366898.1:c.-101T>A		p.*34*	ENST00000366898	NM_004562.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5281.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGGCCT	NONE	.	.	.	.	.	ENSP00000355865	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000366898	Transcript	.	.	ENSG00000185345	8607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRKN2_HUMAN	PARK2	HGNC	M4T2U2_HUMAN,Q6S8G7_HUMAN,Q6Q2I8_HUMAN,Q5XNR7_HUMAN	.	UPI00003673FE	SNV	PARK2,5_prime_UTR_variant,,ENST00000366896,;PARK2,5_prime_UTR_variant,,ENST00000366898,;PARK2,5_prime_UTR_variant,,ENST00000366897,;PACRG,intron_variant,,ENST00000337019,;PACRG,intron_variant,,ENST00000366889,;PACRG,upstream_gene_variant,,ENST00000366888,;PARK2,upstream_gene_variant,,ENST00000366894,;PARK2,upstream_gene_variant,,ENST00000338468,;PARK2,upstream_gene_variant,,ENST00000366892,;PACRG,upstream_gene_variant,,ENST00000542669,;PARK2,upstream_gene_variant,,ENST00000479615,;PACRG,upstream_gene_variant,,ENST00000544266,;	3	43	48	SUCCESS
OR2B3	442184	.	GRCh37	6	29054623	29054623	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	106	0	ENST00000377173.2:c.403A>G	p.Ile135Val	p.I135V	ENST00000377173	NM_001005226.2	135	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS34358.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATGACTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF103,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366378	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377173	Transcript	.	.	ENSG00000204703	8238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.08)	.	OR2B3_HUMAN	OR2B3	HGNC	.	.	UPI0000041DB9	SNV	OR2B3,missense_variant,p.Ile135Val,ENST00000377173,;	468	106	102	SUCCESS
PPP1R10	5514	.	GRCh37	6	30573978	30573980	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	39	0	ENST00000376511.2:c.675_677del	p.Lys225del	p.K225del	ENST00000376511	NM_002714.3	225	aaGAAt/aat	0	.	.	.	.	.	-	KN/N	protein_coding	YES	CCDS4681.1	675-677	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGCATTCTTCTT	NONE	.	.	hmmpanther:PTHR12506	.	.	ENSP00000365694	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000376511	Transcript	.	.	ENSG00000204569	9284	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PP1RA_HUMAN	PPP1R10	HGNC	Q2L6I0_HUMAN	.	UPI000000D73C	deletion	PPP1R10,inframe_deletion,p.Lys225del,ENST00000376511,;PPP1R10,downstream_gene_variant,,ENST00000484449,;PPP1R10,non_coding_transcript_exon_variant,,ENST00000468181,;PPP1R10,non_coding_transcript_exon_variant,,ENST00000461593,;PPP1R10,upstream_gene_variant,,ENST00000496955,;PPP1R10,upstream_gene_variant,,ENST00000476704,;	1228-1230	39	43	SUCCESS
PLXNA4	91584	.	GRCh37	7	132192343	132192343	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	75	0	ENST00000321063.4:c.1110G>T	p.Arg370=	p.R370=	ENST00000321063	NM_020911.1	370	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS43646.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCCGCTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000352882	.	2/32	.	.	.	.	.	.	.	.	.	2/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,synonymous_variant,p.%3D,ENST00000321063,;PLXNA4,synonymous_variant,p.%3D,ENST00000423507,;PLXNA4,synonymous_variant,p.%3D,ENST00000359827,;PLXNA4,synonymous_variant,p.%3D,ENST00000378539,;	2073	75	58	SUCCESS
MIR490	574443	.	GRCh37	7	136588032	136588032	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	50	1	ENST00000384865.1:n.119G>A		p.*40*	ENST00000384865				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5843.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGGACACT	NONE	.	.	.	.	.	ENSP00000399745	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,intron_variant,,ENST00000320658,;CHRM2,intron_variant,,ENST00000401861,;CHRM2,intron_variant,,ENST00000397608,;CHRM2,intron_variant,,ENST00000402486,;CHRM2,intron_variant,,ENST00000453373,;CHRM2,intron_variant,,ENST00000445907,;MIR490,non_coding_transcript_exon_variant,,ENST00000384865,;hsa-mir-490,non_coding_transcript_exon_variant,,ENST00000608269,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	.	51	38	SUCCESS
FAM131B	9715	.	GRCh37	7	143057264	143057264	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	35	0	ENST00000409222.3:c.-56-22G>A		p.*19*	ENST00000409222	NM_014690.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47734.1	.	MUTECT|MUSE	.	GTTAGCCGCCG	NONE	.	.	.	.	.	ENSP00000410603	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443739	Transcript	.	.	ENSG00000159784	22202	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F131B_HUMAN	FAM131B	HGNC	D3DXE4_HUMAN	.	UPI0001633639	SNV	FAM131B,5_prime_UTR_variant,,ENST00000409408,;FAM131B,intron_variant,,ENST00000443739,;FAM131B,intron_variant,,ENST00000409346,;FAM131B,intron_variant,,ENST00000409578,;FAM131B,intron_variant,,ENST00000409222,;RP11-563K23.1,upstream_gene_variant,,ENST00000609674,;FAM131B,intron_variant,,ENST00000521347,;FAM131B,intron_variant,,ENST00000519161,;FAM131B,intron_variant,,ENST00000519279,;FAM131B,upstream_gene_variant,,ENST00000410085,;	.	35	34	SUCCESS
CSMD3	114788	.	GRCh37	8	113331084	113331084	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	41	0	ENST00000297405.5:c.7342G>T	p.Ala2448Ser	p.A2448S	ENST00000297405	NM_198123.1	2448	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6315.1	7342	RADIA|MUTECT|MUSE	.	AGGTGCTCCAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	47/71	.	.	.	.	.	.	.	.	.	47/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.099)	.	tolerated(0.28)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ala2378Ser,ENST00000352409,;CSMD3,missense_variant,p.Ala2344Ser,ENST00000455883,;CSMD3,missense_variant,p.Ala2448Ser,ENST00000297405,;CSMD3,missense_variant,p.Ala1718Ser,ENST00000339701,;CSMD3,missense_variant,p.Ala2408Ser,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7587	41	57	SUCCESS
CSMD3	114788	.	GRCh37	8	113331118	113331118	+	synonymous_variant	Silent	SNP	C	C	A	rs371684642	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	50	0	ENST00000297405.5:c.7308G>T	p.Thr2436=	p.T2436=	ENST00000297405	NM_198123.1	2436	acG/acT	0	T:0	.	.	.	.	A	T	protein_coding	YES	CCDS6315.1	7308	RADIA|MUTECT|MUSE	.	CTGCACGTCAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	T:0.0001	ENSP00000297405	.	47/71	.	.	.	.	.	.	.	.	rs371684642,COSM173325	47/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7553	50	63	SUCCESS
TUSC3	7991	.	GRCh37	8	15480598	15480598	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	96	0	ENST00000503731.1:c.148G>T	p.Ala50Ser	p.A50S	ENST00000503731	NM_006765.3	50	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS5994.1	148	MUTECT|MUSE	.	TTTTAGCTGAA	NONE	.	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692	.	.	ENSP00000424544	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(1)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Ala50Ser,ENST00000382020,;TUSC3,missense_variant,p.Ala4Ser,ENST00000511783,;TUSC3,missense_variant,p.Ala50Ser,ENST00000506802,;TUSC3,missense_variant,p.Ala50Ser,ENST00000509380,;TUSC3,missense_variant,p.Ala50Ser,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,missense_variant,p.Ala50Ser,ENST00000515859,;TUSC3,missense_variant,p.Ala50Ser,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000509177,;	296	96	50	SUCCESS
ACTL7A	10881	.	GRCh37	9	111625852	111625852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	118	0	ENST00000333999.3:c.1250T>A	p.Val417Asp	p.V417D	ENST00000333999	NM_006687.2	417	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS6772.1	1250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGTCCACC	NONE	.	.	hmmpanther:PTHR11937:SF167,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000334300	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333999	Transcript	.	.	ENSG00000187003	161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	ACL7A_HUMAN	ACTL7A	HGNC	.	.	UPI0000125052	SNV	ACTL7A,missense_variant,p.Val417Asp,ENST00000333999,;IKBKAP,downstream_gene_variant,,ENST00000374647,;IKBKAP,downstream_gene_variant,,ENST00000495759,;	1250	118	94	SUCCESS
GARNL3	84253	.	GRCh37	9	130145772	130145772	+	synonymous_variant	Silent	SNP	A	A	G	rs62579716	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	60	0	ENST00000373387.4:c.2217A>G	p.Gln739=	p.Q739=	ENST00000373387	NM_032293.4	739	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS6869.2	2217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAACCTTC	NONE	.	.	SMART_domains:SM00036,Pfam_domain:PF00780,PROSITE_profiles:PS50219,hmmpanther:PTHR15711	.	.	ENSP00000362485	.	23/28	.	.	.	.	.	.	.	.	rs62579716	23/28	PASS	ENST00000373387	Transcript	.	.	ENSG00000136895	25425	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GARL3_HUMAN	GARNL3	HGNC	B4DH81_HUMAN	.	UPI0000EE56F2	SNV	GARNL3,synonymous_variant,p.%3D,ENST00000314904,;GARNL3,synonymous_variant,p.%3D,ENST00000435213,;GARNL3,synonymous_variant,p.%3D,ENST00000373387,;GARNL3,non_coding_transcript_exon_variant,,ENST00000496711,;GARNL3,synonymous_variant,p.%3D,ENST00000373386,;GARNL3,non_coding_transcript_exon_variant,,ENST00000481242,;GARNL3,upstream_gene_variant,,ENST00000463005,;GARNL3,upstream_gene_variant,,ENST00000497703,;	2569	61	63	SUCCESS
ZMAT1	84460	.	GRCh37	X	101139682	101139682	+	synonymous_variant	Silent	SNP	C	C	T	rs1379750988	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	49	64	0	ENST00000372782.3:c.717G>A	p.Lys239=	p.K239=	ENST00000372782	NM_001011657.3	239	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS35348.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCTTGGC	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14	.	.	ENSP00000361868	.	7/7	.	.	.	.	.	.	.	.	COSM1112032,COSM1112031	7/7	PASS	ENST00000372782	Transcript	.	.	ENSG00000166432	29377	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ZMAT1_HUMAN	ZMAT1	HGNC	.	.	UPI0000198414	SNV	ZMAT1,synonymous_variant,p.%3D,ENST00000458570,;ZMAT1,synonymous_variant,p.%3D,ENST00000540921,;ZMAT1,synonymous_variant,p.%3D,ENST00000372782,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000490757,;	765	64	106	SUCCESS
CSF2RA	1438	.	GRCh37	X	1401418	1401418	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	56	128	0	ENST00000381524.3:c.-26-153A>G		p.*9*	ENST00000381524				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGACCTTC	NONE	.	153	.	.	.	ENSP00000394227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000417535	Transcript	.	.	ENSG00000198223	2435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSF2R_HUMAN	CSF2RA	HGNC	J3JS74_HUMAN,J3JS73_HUMAN	.	UPI000159C3E4	SNV	CSF2RA,5_prime_UTR_variant,,ENST00000432318,;CSF2RA,5_prime_UTR_variant,,ENST00000419094,;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,;CSF2RA,intron_variant,,ENST00000355432,;CSF2RA,intron_variant,,ENST00000355805,;CSF2RA,intron_variant,,ENST00000501036,;CSF2RA,intron_variant,,ENST00000361536,;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000412290,;CSF2RA,intron_variant,,ENST00000381509,;CSF2RA,upstream_gene_variant,,ENST00000417535,;CSF2RA,upstream_gene_variant,,ENST00000381500,;CSF2RA,intron_variant,,ENST00000493312,;CSF2RA,upstream_gene_variant,,ENST00000477940,;CSF2RA,downstream_gene_variant,,ENST00000481245,;CSF2RA,intron_variant,,ENST00000486791,;	.	128	117	SUCCESS
GPR174	84636	.	GRCh37	X	78426502	78426502	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs745537899	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	59	114	0	ENST00000276077.1:c.-3A>G		p.*1*	ENST00000276077	NM_032553.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14443.1	.	RADIA|MUTECT|MUSE	.	AGAGAATCATG	NONE	.	.	.	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	rs745537899	1/1	PASS	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,5_prime_UTR_variant,,ENST00000276077,;	34	114	187	SUCCESS
GPR174	84636	.	GRCh37	X	78426503	78426503	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	68	114	0	ENST00000276077.1:c.-2T>G		p.*1*	ENST00000276077	NM_032553.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAATCATGC	NONE	.	.	.	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,5_prime_UTR_variant,,ENST00000276077,;	35	114	194	SUCCESS
CCDC7	79741	.	GRCh37	10	32740800	32740801	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1275671890	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	169	41	145	0	ENST00000362006.5:c.231dup	p.Leu78ThrfsTer5	p.L78Tfs*5	ENST00000362006	NM_145023.4	77	tta/ttAa	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS7173.1	230-231	VARSCANI*|PINDEL	.	GAACTTACTAC	CODON|p.L77fs*6|c.230_231insT|6	.	.	hmmpanther:PTHR22035:SF4,hmmpanther:PTHR22035,Pfam_domain:PF15368	.	.	ENSP00000355078	.	2/18	.	.	.	.	.	.	.	.	COSM1683429	2/18	PASS	ENST00000362006	Transcript	.	.	ENSG00000216937	26533	1	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CCDC7_HUMAN	CCDC7	HGNC	.	.	UPI00000745EB	insertion	CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000537047,;CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000535327,;CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000277657,;CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000539197,;CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000545067,;CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000362006,;CCDC7,frameshift_variant,p.Leu78ThrfsTer5,ENST00000476558,;	773-774	145	210	SUCCESS
BMS1	9790	.	GRCh37	10	43292088	43292088	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	36	131	0	ENST00000374518.5:c.1396G>A	p.Glu466Lys	p.E466K	ENST00000374518	NM_014753.3	466	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7199.1	1396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGAAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858	.	.	ENSP00000363642	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000374518	Transcript	1	.	ENSG00000165733	23505	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.17)	.	BMS1_HUMAN	BMS1	HGNC	.	.	UPI0000126A3E	SNV	BMS1,missense_variant,p.Glu466Lys,ENST00000374518,;	1459	131	184	SUCCESS
ZNF488	118738	.	GRCh37	10	48370493	48370493	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs782163610	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	31	0	ENST00000395702.2:c.-40G>A		p.*14*	ENST00000395702				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7217.1	.	MUTECT|MUSE	.	GCTGGGCCAAG	NONE	byFrequency	.	.	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	rs782163610	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	SNV	ZNF488,5_prime_UTR_variant,,ENST00000444585,;ZNF488,5_prime_UTR_variant,,ENST00000395702,;ZNF488,5_prime_UTR_variant,,ENST00000442001,;ZNF488,5_prime_UTR_variant,,ENST00000433077,;ZNF488,5_prime_UTR_variant,,ENST00000586537,;ZNF488,5_prime_UTR_variant,,ENST00000436850,;ZNF488,5_prime_UTR_variant,,ENST00000494156,;ZNF488,5_prime_UTR_variant,,ENST00000412534,;ZNF488,5_prime_UTR_variant,,ENST00000425196,;	188	31	50	SUCCESS
PRKCQ	5588	.	GRCh37	10	6504265	6504265	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	61	0	ENST00000263125.5:c.1508G>T	p.Arg503Met	p.R503M	ENST00000263125	NM_006257.3	503	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS7079.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACCTGTAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000551,SMART_domains:SM00220,PIRSF_domain:PIRSF501105,Superfamily_domains:SSF56112	.	.	ENSP00000263125	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,missense_variant,p.Arg503Met,ENST00000397176,;PRKCQ,missense_variant,p.Arg503Met,ENST00000263125,;PRKCQ,missense_variant,p.Arg378Met,ENST00000539722,;	1608	61	70	SUCCESS
TNKS2	80351	.	GRCh37	10	93558604	93558604	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	66	0	ENST00000371627.4:c.157G>T	p.Asp53Tyr	p.D53Y	ENST00000371627	NM_025235.3	53	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS7417.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGACACG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000360689	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000371627	Transcript	.	.	ENSG00000107854	15677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,missense_variant,p.Asp53Tyr,ENST00000371627,;TNKS2-AS1,upstream_gene_variant,,ENST00000432246,;TNKS2-AS1,upstream_gene_variant,,ENST00000432938,;	536	66	86	SUCCESS
SORL1	6653	.	GRCh37	11	121477964	121477964	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs759734325	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	37	1	ENST00000260197.7:c.5131A>T	p.Lys1711Ter	p.K1711*	ENST00000260197	NM_003105.5	1711	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS8436.1	5131	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCAAGAAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000260197	.	37/48	.	.	.	.	.	.	.	.	rs759734325	37/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,stop_gained,p.Lys621Ter,ENST00000534286,;SORL1,stop_gained,p.Lys326Ter,ENST00000527934,;SORL1,stop_gained,p.Lys655Ter,ENST00000525532,;SORL1,stop_gained,p.Lys1711Ter,ENST00000260197,;SORL1,stop_gained,p.Lys557Ter,ENST00000532694,;SORL1,upstream_gene_variant,,ENST00000534754,;SORL1,upstream_gene_variant,,ENST00000528339,;	5260	38	64	SUCCESS
DDX25	29118	.	GRCh37	11	125774388	125774388	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	31	74	0	ENST00000263576.6:c.-25G>T		p.*9*	ENST00000263576	NM_013264.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44766.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGGGGGC	NONE	.	.	.	.	.	ENSP00000263576	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000263576	Transcript	.	.	ENSG00000109832	18698	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX25_HUMAN	DDX25	HGNC	B4YF11_HUMAN,B1NSN7_HUMAN	.	UPI000018CE78	SNV	DDX25,5_prime_UTR_variant,,ENST00000263576,;PUS3,upstream_gene_variant,,ENST00000227474,;HYLS1,downstream_gene_variant,,ENST00000356438,;DDX25,upstream_gene_variant,,ENST00000530414,;DDX25,upstream_gene_variant,,ENST00000526875,;DDX25,upstream_gene_variant,,ENST00000530129,;PUS3,upstream_gene_variant,,ENST00000529801,;PUS3,upstream_gene_variant,,ENST00000534158,;HYLS1,downstream_gene_variant,,ENST00000425380,;HYLS1,downstream_gene_variant,,ENST00000526028,;RP11-680F20.9,intron_variant,,ENST00000533033,;DDX25,intron_variant,,ENST00000525943,;	131	74	117	SUCCESS
ACAD8	27034	.	GRCh37	11	134131244	134131244	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	89	0	ENST00000281182.4:c.917G>C	p.Gly306Ala	p.G306A	ENST00000281182	NM_014384.2	306	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS8498.1	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGGAGAGC	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Pfam_domain:PF00441,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	.	.	ENSP00000281182	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.422)	.	deleterious(0.05)	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,missense_variant,p.Gly208Ala,ENST00000543332,;ACAD8,missense_variant,p.Gly306Ala,ENST00000281182,;ACAD8,missense_variant,p.Gly179Ala,ENST00000374752,;ACAD8,missense_variant,p.Gly229Ala,ENST00000537423,;ACAD8,upstream_gene_variant,,ENST00000524502,;ACAD8,non_coding_transcript_exon_variant,,ENST00000524547,;ACAD8,3_prime_UTR_variant,,ENST00000524426,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527665,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,downstream_gene_variant,,ENST00000528325,;ACAD8,downstream_gene_variant,,ENST00000527082,;ACAD8,downstream_gene_variant,,ENST00000534433,;ACAD8,downstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000527713,;ACAD8,downstream_gene_variant,,ENST00000530533,;ACAD8,downstream_gene_variant,,ENST00000534240,;ACAD8,downstream_gene_variant,,ENST00000525961,;	1023	89	105	SUCCESS
USH1C	10083	.	GRCh37	11	17527406	17527406	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	92	0	ENST00000318024.4:c.1285-3879T>C		p.*429*	ENST00000318024	NM_005709.3	702		0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS7825.1	2104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTAGATGA	NONE	.	.	hmmpanther:PTHR23116:SF32,hmmpanther:PTHR23116	.	.	ENSP00000005226	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000005226	Transcript	.	.	ENSG00000006611	12597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.42)	.	USH1C_HUMAN	USH1C	HGNC	.	.	UPI00001D965A	SNV	USH1C,missense_variant,p.Tyr702His,ENST00000005226,;USH1C,intron_variant,,ENST00000527720,;USH1C,intron_variant,,ENST00000318024,;USH1C,intron_variant,,ENST00000527020,;USH1C,intron_variant,,ENST00000529563,;USH1C,intron_variant,,ENST00000526313,;USH1C,upstream_gene_variant,,ENST00000534556,;	2104	92	112	SUCCESS
PKP3	11187	.	GRCh37	11	404567	404567	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	26	69	0	ENST00000331563.2:c.2392T>A	p.Ter798LysextTer?	p.*798Kext*?	ENST00000331563	NM_007183.2	798	Tag/Aag	0	.	.	.	.	.	A	*/K	protein_coding	YES	CCDS7695.1	2392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCATAGGTG	NONE	.	.	.	.	.	ENSP00000331678	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000331563	Transcript	.	.	ENSG00000184363	9025	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKP3_HUMAN	PKP3	HGNC	E9PRW6_HUMAN,E9PQ15_HUMAN,E9PKC4_HUMAN,E9PJR7_HUMAN	.	UPI0000034ACC	SNV	PKP3,stop_lost,p.Ter798LysextTer?,ENST00000331563,;PKP3,3_prime_UTR_variant,,ENST00000525642,;SIGIRR,downstream_gene_variant,,ENST00000382520,;SIGIRR,downstream_gene_variant,,ENST00000528058,;SIGIRR,downstream_gene_variant,,ENST00000526395,;SIGIRR,downstream_gene_variant,,ENST00000528209,;SIGIRR,downstream_gene_variant,,ENST00000531205,;SIGIRR,downstream_gene_variant,,ENST00000397632,;SIGIRR,downstream_gene_variant,,ENST00000431843,;SIGIRR,downstream_gene_variant,,ENST00000528845,;SIGIRR,downstream_gene_variant,,ENST00000530494,;SIGIRR,downstream_gene_variant,,ENST00000332725,;SIGIRR,downstream_gene_variant,,ENST00000530683,;SIGIRR,downstream_gene_variant,,ENST00000527136,;SIGIRR,downstream_gene_variant,,ENST00000528116,;SIGIRR,downstream_gene_variant,,ENST00000529486,;SIGIRR,downstream_gene_variant,,ENST00000525299,;SIGIRR,downstream_gene_variant,,ENST00000534217,;SIGIRR,downstream_gene_variant,,ENST00000528698,;SIGIRR,downstream_gene_variant,,ENST00000526788,;SIGIRR,downstream_gene_variant,,ENST00000528536,;SIGIRR,downstream_gene_variant,,ENST00000527987,;SIGIRR,downstream_gene_variant,,ENST00000525070,;SIGIRR,downstream_gene_variant,,ENST00000527295,;PKP3,downstream_gene_variant,,ENST00000526971,;SIGIRR,downstream_gene_variant,,ENST00000534145,;	2468	69	130	SUCCESS
NR1H3	10062	.	GRCh37	11	47281483	47281483	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	50	167	0	ENST00000441012.2:c.185A>T	p.Glu62Val	p.E62V	ENST00000441012	NM_005693.3	62	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS7929.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGAGCCCA	NONE	.	.	hmmpanther:PTHR24082:SF259,hmmpanther:PTHR24082	.	.	ENSP00000420656	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000467728	Transcript	.	.	ENSG00000025434	7966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	NR1H3_HUMAN	NR1H3	HGNC	F1D8N1_HUMAN,C9JTS4_HUMAN,C9JJ16_HUMAN,C9JEC2_HUMAN,C9JCS0_HUMAN,C9JBS2_HUMAN,C9J4R0_HUMAN,C9J2C8_HUMAN	.	UPI000013050C	SNV	NR1H3,missense_variant,p.Glu62Val,ENST00000436029,;NR1H3,missense_variant,p.Glu17Val,ENST00000395397,;NR1H3,missense_variant,p.Glu62Val,ENST00000441012,;NR1H3,missense_variant,p.Glu62Val,ENST00000449369,;NR1H3,missense_variant,p.Glu62Val,ENST00000437276,;NR1H3,missense_variant,p.Glu62Val,ENST00000407404,;NR1H3,missense_variant,p.Glu62Val,ENST00000457932,;NR1H3,missense_variant,p.Glu62Val,ENST00000467728,;NR1H3,missense_variant,p.Glu17Val,ENST00000531660,;NR1H3,missense_variant,p.Glu17Val,ENST00000405576,;NR1H3,missense_variant,p.Glu62Val,ENST00000444396,;NR1H3,missense_variant,p.Glu17Val,ENST00000481889,;NR1H3,missense_variant,p.Glu62Val,ENST00000436778,;NR1H3,missense_variant,p.Glu62Val,ENST00000405853,;NR1H3,missense_variant,p.Glu17Val,ENST00000412937,;NR1H3,upstream_gene_variant,,ENST00000527949,;NR1H3,non_coding_transcript_exon_variant,,ENST00000495866,;NR1H3,non_coding_transcript_exon_variant,,ENST00000461778,;NR1H3,non_coding_transcript_exon_variant,,ENST00000530310,;NR1H3,non_coding_transcript_exon_variant,,ENST00000473222,;NR1H3,non_coding_transcript_exon_variant,,ENST00000525441,;NR1H3,non_coding_transcript_exon_variant,,ENST00000476086,;NR1H3,non_coding_transcript_exon_variant,,ENST00000527464,;NR1H3,non_coding_transcript_exon_variant,,ENST00000529540,;NR1H3,intron_variant,,ENST00000532630,;NR1H3,missense_variant,p.Ser64Cys,ENST00000420369,;NR1H3,non_coding_transcript_exon_variant,,ENST00000481020,;NR1H3,non_coding_transcript_exon_variant,,ENST00000498548,;NR1H3,non_coding_transcript_exon_variant,,ENST00000483882,;NR1H3,intron_variant,,ENST00000487913,;NR1H3,downstream_gene_variant,,ENST00000486991,;NR1H3,downstream_gene_variant,,ENST00000419652,;	1423	167	221	SUCCESS
KBTBD4	55709	.	GRCh37	11	47594682	47594682	+	synonymous_variant	Silent	SNP	G	G	T	rs573433525	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	5	82	0	ENST00000395288.2:c.1357C>A	p.Arg453=	p.R453=	ENST00000395288	NM_016506.5	453	Cgg/Agg	0	.	A:0.0008	.	A:0	.	T	R	protein_coding	YES	CCDS44594.1	1405	MUTECT|MUSE	.	AAGCCGGGTGA	NONE	by1000G	.	hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF24,Gene3D:1zgkA00,Superfamily_domains:0052715	A:0	.	ENSP00000415106	A:0	4/4	.	.	.	.	.	.	.	.	rs573433525	4/4	PASS	ENST00000430070	Transcript	.	A:0.0002	ENSG00000123444	23761	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	KBTB4_HUMAN	KBTBD4	HGNC	E9PJY1_HUMAN,E9PJ66_HUMAN	.	UPI0000D4DDB6	SNV	KBTBD4,synonymous_variant,p.%3D,ENST00000395288,;KBTBD4,synonymous_variant,p.%3D,ENST00000533290,;KBTBD4,synonymous_variant,p.%3D,ENST00000430070,;KBTBD4,synonymous_variant,p.%3D,ENST00000526005,;PTPMT1,downstream_gene_variant,,ENST00000426530,;KBTBD4,downstream_gene_variant,,ENST00000529499,;PTPMT1,downstream_gene_variant,,ENST00000534775,;KBTBD4,downstream_gene_variant,,ENST00000534239,;KBTBD4,downstream_gene_variant,,ENST00000529946,;KBTBD4,downstream_gene_variant,,ENST00000531067,;KBTBD4,downstream_gene_variant,,ENST00000525720,;KBTBD4,upstream_gene_variant,,ENST00000450908,;PTPMT1,downstream_gene_variant,,ENST00000326674,;PTPMT1,downstream_gene_variant,,ENST00000326656,;RNU5E-10P,downstream_gene_variant,,ENST00000363506,;PTPMT1,non_coding_transcript_exon_variant,,ENST00000527079,;NDUFS3,intron_variant,,ENST00000533507,;KBTBD4,downstream_gene_variant,,ENST00000530668,;	1469	82	129	SUCCESS
UBQLNL	143630	.	GRCh37	11	5537290	5537290	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	59	0	ENST00000380184.1:c.382A>T	p.Thr128Ser	p.T128S	ENST00000380184	NM_145053.4	128	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS31385.1	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGTGTTTC	NONE	.	.	hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9	.	.	ENSP00000369531	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380184	Transcript	.	.	ENSG00000175518	28294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.343)	.	tolerated(0.25)	.	UBQLN_HUMAN	UBQLNL	HGNC	.	.	UPI000066D8EC	SNV	UBQLNL,missense_variant,p.Thr128Ser,ENST00000380184,;HBG2,intron_variant,,ENST00000380259,;AC087380.14,downstream_gene_variant,,ENST00000411807,;	646	59	76	SUCCESS
SLC22A24	283238	.	GRCh37	11	62910859	62910859	+	synonymous_variant	Silent	SNP	G	G	A	rs1244016008	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	75	1	ENST00000326192.5:c.393C>T	p.Ile131=	p.I131=	ENST00000326192		131	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	.	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACGATGGT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Superfamily_domains:SSF103473	.	.	ENSP00000396586	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000417740	Transcript	.	.	ENSG00000197658	28542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC22A24	HGNC	C9JC66_HUMAN	.	UPI00016625C6	SNV	SLC22A24,synonymous_variant,p.%3D,ENST00000326192,;SLC22A24,synonymous_variant,p.%3D,ENST00000417740,;SLC22A10,intron_variant,,ENST00000525620,;	835	76	78	SUCCESS
TRIM66	9866	.	GRCh37	11	8671412	8671412	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	42	0	ENST00000299550.6:c.32A>T	p.Lys11Met	p.K11M	ENST00000299550	NM_014818.1	11	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	.	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTTCTCC	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121,SMART_domains:SM00336,SMART_domains:SM00249	.	.	ENSP00000384876	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000402157	Transcript	.	.	ENSG00000166436	29005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	.	TRIM66	HGNC	B5MCJ9_HUMAN	.	UPI00016113E8	SNV	TRIM66,missense_variant,p.Lys11Met,ENST00000402157,;TRIM66,missense_variant,p.Lys11Met,ENST00000299550,;TRIM66,non_coding_transcript_exon_variant,,ENST00000531498,;TRIM66,upstream_gene_variant,,ENST00000529057,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	473	42	56	SUCCESS
TCTN1	79600	.	GRCh37	12	111066708	111066708	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	57	0	ENST00000551590.1:c.609T>C	p.Thr203=	p.T203=	ENST00000551590		203	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS41834.1	609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACTGCTGC	NONE	.	.	hmmpanther:PTHR14611:SF1,hmmpanther:PTHR14611,Pfam_domain:PF07773	.	.	ENSP00000380779	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000397659	Transcript	.	.	ENSG00000204852	26113	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TECT1_HUMAN	TCTN1	HGNC	.	.	UPI00006E225F	SNV	TCTN1,synonymous_variant,p.%3D,ENST00000377654,;TCTN1,synonymous_variant,p.%3D,ENST00000397655,;TCTN1,synonymous_variant,p.%3D,ENST00000397659,;TCTN1,synonymous_variant,p.%3D,ENST00000550703,;TCTN1,synonymous_variant,p.%3D,ENST00000551590,;HVCN1,intron_variant,,ENST00000548312,;TCTN1,downstream_gene_variant,,ENST00000471804,;AC144522.1,upstream_gene_variant,,ENST00000408319,;RN7SL387P,upstream_gene_variant,,ENST00000581015,;TCTN1,non_coding_transcript_exon_variant,,ENST00000551555,;TCTN1,downstream_gene_variant,,ENST00000552762,;TCTN1,synonymous_variant,p.%3D,ENST00000480648,;TCTN1,3_prime_UTR_variant,,ENST00000546643,;TCTN1,3_prime_UTR_variant,,ENST00000478122,;TCTN1,3_prime_UTR_variant,,ENST00000397656,;TCTN1,3_prime_UTR_variant,,ENST00000495659,;TCTN1,3_prime_UTR_variant,,ENST00000552318,;TCTN1,3_prime_UTR_variant,,ENST00000490514,;TCTN1,3_prime_UTR_variant,,ENST00000464809,;TCTN1,non_coding_transcript_exon_variant,,ENST00000547868,;TCTN1,downstream_gene_variant,,ENST00000481720,;	628	57	45	SUCCESS
RPH3A	22895	.	GRCh37	12	113306371	113306371	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	45	0	ENST00000389385.4:c.581C>A	p.Pro194His	p.P194H	ENST00000389385	NM_001143854.1	194	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS44979.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCCAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118	.	.	ENSP00000374036	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000389385	Transcript	.	.	ENSG00000089169	17056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	deleterious(0.03)	.	RP3A_HUMAN	RPH3A	HGNC	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN	.	UPI000013456D	SNV	RPH3A,missense_variant,p.Pro194His,ENST00000415485,;RPH3A,missense_variant,p.Pro190His,ENST00000551052,;RPH3A,missense_variant,p.Pro194His,ENST00000543106,;RPH3A,missense_variant,p.Pro145His,ENST00000447659,;RPH3A,missense_variant,p.Pro145His,ENST00000548866,;RPH3A,missense_variant,p.Pro194His,ENST00000420983,;RPH3A,missense_variant,p.Pro194His,ENST00000389385,;RPH3A,downstream_gene_variant,,ENST00000550901,;RPH3A,downstream_gene_variant,,ENST00000547686,;RPH3A,downstream_gene_variant,,ENST00000546703,;RPH3A,downstream_gene_variant,,ENST00000552667,;RPH3A,downstream_gene_variant,,ENST00000548197,;RPH3A,downstream_gene_variant,,ENST00000551593,;RPH3A,downstream_gene_variant,,ENST00000547840,;RPH3A,downstream_gene_variant,,ENST00000549769,;RPH3A,downstream_gene_variant,,ENST00000551748,;RPH3A,downstream_gene_variant,,ENST00000551198,;RPH3A,downstream_gene_variant,,ENST00000547728,;RPH3A,downstream_gene_variant,,ENST00000553114,;RPH3A,non_coding_transcript_exon_variant,,ENST00000549913,;RPH3A,non_coding_transcript_exon_variant,,ENST00000547222,;RPH3A,downstream_gene_variant,,ENST00000552679,;RPH3A,downstream_gene_variant,,ENST00000547099,;	1078	45	61	SUCCESS
MED13L	23389	.	GRCh37	12	116446438	116446438	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	53	0	ENST00000281928.3:c.1780A>T	p.Thr594Ser	p.T594S	ENST00000281928	NM_015335.4	594	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9177.1	1780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTAGACA	NONE	.	.	hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	.	.	ENSP00000281928	.	10/31	.	.	.	.	.	.	.	.	.	10/31	PASS	ENST00000281928	Transcript	.	.	ENSG00000123066	22962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(1)	.	MD13L_HUMAN	MED13L	HGNC	Q9H6Z7_HUMAN	.	UPI0000241C1E	SNV	MED13L,missense_variant,p.Thr594Ser,ENST00000281928,;MED13L,non_coding_transcript_exon_variant,,ENST00000549755,;	1987	53	72	SUCCESS
VPS33A	65082	.	GRCh37	12	122734446	122734446	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	92	0	ENST00000267199.4:c.747C>G	p.Leu249=	p.L249=	ENST00000267199	NM_022916.4	249	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9231.1	747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGAGTCC	NONE	.	.	hmmpanther:PTHR11679:SF31,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.90.830.10,Superfamily_domains:SSF56815	.	.	ENSP00000267199	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000267199	Transcript	.	.	ENSG00000139719	18179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP33A_HUMAN	VPS33A	HGNC	Q9H6C4_HUMAN	.	UPI000000D7AA	SNV	VPS33A,synonymous_variant,p.%3D,ENST00000267199,;VPS33A,synonymous_variant,p.%3D,ENST00000536212,;VPS33A,downstream_gene_variant,,ENST00000451053,;VPS33A,non_coding_transcript_exon_variant,,ENST00000540669,;VPS33A,non_coding_transcript_exon_variant,,ENST00000541169,;VPS33A,downstream_gene_variant,,ENST00000542310,;RP11-512M8.5,synonymous_variant,p.%3D,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;VPS33A,non_coding_transcript_exon_variant,,ENST00000542790,;VPS33A,non_coding_transcript_exon_variant,,ENST00000544349,;	860	92	119	SUCCESS
ZCCHC8	55596	.	GRCh37	12	122983386	122983387	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	107	27	71	0	ENST00000336229.4:c.229_230del	p.Leu77AspfsTer12	p.L77Dfs*12	ENST00000336229	NM_017612.3	77	CTg/g	0	.	.	.	.	.	-	L/X	protein_coding	YES	.	229-230	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGTCAGAATGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13316,hmmpanther:PTHR13316:SF0	.	.	ENSP00000337313	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000336229	Transcript	.	.	ENSG00000033030	25265	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZCHC8_HUMAN	ZCCHC8	HGNC	F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN	.	UPI00001E0582	deletion	ZCCHC8,frameshift_variant,p.Leu77AspfsTer12,ENST00000336229,;ZCCHC8,5_prime_UTR_variant,,ENST00000543897,;ZCCHC8,5_prime_UTR_variant,,ENST00000536306,;ZCCHC8,intron_variant,,ENST00000536663,;ZCCHC8,intron_variant,,ENST00000540586,;	360-361	71	134	SUCCESS
DNAH10	196385	.	GRCh37	12	124360035	124360035	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	74	0	ENST00000409039.3:c.7842C>A	p.Thr2614=	p.T2614=	ENST00000409039	NM_207437.3	2614	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9255.2	7842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCTCGGT	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000386770	.	46/78	.	.	.	.	.	.	.	.	.	46/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;DNAH10,intron_variant,,ENST00000497783,;	7867	74	70	SUCCESS
NCOR2	9612	.	GRCh37	12	124835216	124835216	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374662581	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	41	1	ENST00000405201.1:c.3761G>A	p.Arg1254His	p.R1254H	ENST00000405201		1254	cGc/cAc	0	A:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS41858.2	3761	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGCGACTC	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	A:0.0001	ENSP00000384018	.	28/47	.	.	.	.	.	.	.	.	rs374662581	28/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Arg1261His,ENST00000356219,;NCOR2,missense_variant,p.Arg1262His,ENST00000458234,;NCOR2,missense_variant,p.Arg815His,ENST00000404121,;NCOR2,missense_variant,p.Arg1244His,ENST00000429285,;NCOR2,missense_variant,p.Arg1254His,ENST00000405201,;NCOR2,missense_variant,p.Arg1244His,ENST00000404621,;NCOR2,missense_variant,p.Arg1245His,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000536195,;NCOR2,upstream_gene_variant,,ENST00000473999,;NCOR2,downstream_gene_variant,,ENST00000493859,;	3762	42	70	SUCCESS
ART4	420	.	GRCh37	12	14995920	14995920	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs912581204	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	75	0	ENST00000228936.4:c.128C>T	p.Pro43Leu	p.P43L	ENST00000228936	NM_021071.2	43	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8668.1	128	MUTECT|MUSE	.	CTGTGGGTCTC	NONE	.	.	hmmpanther:PTHR10339:SF1,hmmpanther:PTHR10339	.	.	ENSP00000228936	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000228936	Transcript	.	.	ENSG00000111339	726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.804)	.	deleterious(0.04)	.	NAR4_HUMAN	ART4	HGNC	Q3KZ27_HUMAN	.	UPI000004A87C	SNV	ART4,missense_variant,p.Pro26Leu,ENST00000430129,;ART4,missense_variant,p.Pro26Leu,ENST00000420600,;ART4,missense_variant,p.Pro26Leu,ENST00000544616,;ART4,missense_variant,p.Pro43Leu,ENST00000228936,;RP11-233G1.4,intron_variant,,ENST00000444324,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;	510	75	91	SUCCESS
LIMA1	51474	.	GRCh37	12	50575756	50575756	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200141288	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	21	72	0	ENST00000341247.4:c.1205G>T	p.Arg402Leu	p.R402L	ENST00000341247	NM_016357.4	402	cGt/cTt	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS44877.1	1208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACGCTCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24206,hmmpanther:PTHR24206:SF27,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	T:0.0002	ENSP00000378400	.	10/11	.	.	.	.	.	.	.	.	rs200141288,COSM3398792	10/11	PASS	ENST00000394943	Transcript	.	.	ENSG00000050405	24636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.99)	.	deleterious(0)	0,1	LIMA1_HUMAN	LIMA1	HGNC	Q59FE8_HUMAN,F8VVQ7_HUMAN,F8VTU2_HUMAN	.	UPI0000EE6469	SNV	LIMA1,missense_variant,p.Arg241Leu,ENST00000552909,;LIMA1,missense_variant,p.Arg402Leu,ENST00000341247,;LIMA1,missense_variant,p.Arg403Leu,ENST00000394943,;LIMA1,missense_variant,p.Arg99Leu,ENST00000552491,;LIMA1,missense_variant,p.Arg100Leu,ENST00000547825,;LIMA1,missense_variant,p.Arg243Leu,ENST00000552783,;LIMA1,missense_variant,p.Arg242Leu,ENST00000552823,;RP3-405J10.3,downstream_gene_variant,,ENST00000552061,;LIMA1,non_coding_transcript_exon_variant,,ENST00000552338,;LIMA1,3_prime_UTR_variant,,ENST00000552720,;LIMA1,non_coding_transcript_exon_variant,,ENST00000549064,;	1318	72	103	SUCCESS
TMEM5	0	.	GRCh37	12	64202488	64202488	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	63	0	ENST00000261234.6:c.948G>A	p.Lys316=	p.K316=	ENST00000261234	NM_014254.2	316	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS8966.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAAGAATTA	NONE	.	.	hmmpanther:PTHR15576,hmmpanther:PTHR15576:SF1	.	.	ENSP00000261234	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000261234	Transcript	.	.	ENSG00000118600	13530	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMEM5_HUMAN	TMEM5	HGNC	G3V1K2_HUMAN	.	UPI000006E0CE	SNV	TMEM5,synonymous_variant,p.%3D,ENST00000537373,;TMEM5,synonymous_variant,p.%3D,ENST00000261234,;TMEM5-AS1,downstream_gene_variant,,ENST00000546214,;TMEM5,3_prime_UTR_variant,,ENST00000543342,;TMEM5,non_coding_transcript_exon_variant,,ENST00000433461,;	1106	63	96	SUCCESS
WNK1	65125	.	GRCh37	12	922935	922935	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	17	80	0	ENST00000315939.6:c.887G>A	p.Cys296Tyr	p.C296Y	ENST00000315939	NM_018979.3	296	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS8506.1	887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTGCATTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000313059	.	2/28	.	.	.	.	.	.	.	.	.	2/28	PASS	ENST00000315939	Transcript	.	.	ENSG00000060237	14540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.06)	.	WNK1_HUMAN	WNK1	HGNC	Q96CZ6_HUMAN	.	UPI000013CD65	SNV	WNK1,missense_variant,p.Cys296Tyr,ENST00000315939,;WNK1,missense_variant,p.Cys296Tyr,ENST00000535572,;WNK1,missense_variant,p.Cys296Tyr,ENST00000447667,;WNK1,missense_variant,p.Cys296Tyr,ENST00000530271,;WNK1,missense_variant,p.Cys296Tyr,ENST00000537687,;	1530	80	105	SUCCESS
C12orf55	0	.	GRCh37	12	97102412	97102412	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	58	233	0	ENST00000524981.4:c.6555C>A	p.Gly2185=	p.G2185=	ENST00000524981		2185	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	6555	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGCTTGCC	NONE	.	.	.	.	.	ENSP00000431759	.	48/68	.	.	.	.	.	.	.	.	.	48/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,synonymous_variant,p.%3D,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	6578	233	297	SUCCESS
IRS2	8660	.	GRCh37	13	110435305	110435305	+	synonymous_variant	Silent	SNP	C	C	T	rs1325711797	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	26	0	ENST00000375856.3:c.3096G>A	p.Pro1032=	p.P1032=	ENST00000375856	NM_003749.2	1032	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9510.1	3096	MUTECT|MUSE	.	GGTGGCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,synonymous_variant,p.%3D,ENST00000375856,;	3611	26	41	SUCCESS
RASA3	22821	.	GRCh37	13	114789758	114789758	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	27	68	0	ENST00000334062.7:c.677T>A	p.Ile226Asn	p.I226N	ENST00000334062	NM_007368.2	226	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS32016.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGATTTCG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10194:SF53,hmmpanther:PTHR10194,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000335029	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000334062	Transcript	.	.	ENSG00000185989	20331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	RASA3_HUMAN	RASA3	HGNC	F8W6X8_HUMAN	.	UPI000000DBC1	SNV	RASA3,missense_variant,p.Ile194Asn,ENST00000389544,;RASA3,missense_variant,p.Ile226Asn,ENST00000334062,;RASA3,3_prime_UTR_variant,,ENST00000542651,;	799	69	113	SUCCESS
SLC25A21	89874	.	GRCh37	14	37641486	37641486	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	52	168	0	ENST00000331299.5:c.70G>A	p.Gly24Ser	p.G24S	ENST00000331299	NM_030631.3	24	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS9663.1	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTGCAG	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF35,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926	.	.	ENSP00000329452	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000331299	Transcript	.	.	ENSG00000183032	14411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	tolerated(0.06)	.	ODC_HUMAN	SLC25A21	HGNC	.	.	UPI0000130BCE	SNV	SLC25A21,missense_variant,p.Gly24Ser,ENST00000555449,;SLC25A21,missense_variant,p.Gly24Ser,ENST00000331299,;SLC25A21-AS1,5_prime_UTR_variant,,ENST00000556667,;SLC25A21,splice_region_variant,,ENST00000557611,;	586	168	257	SUCCESS
GNB5	10681	.	GRCh37	15	52416719	52416719	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	23	92	0	ENST00000261837.7:c.1127C>T	p.Ser376Phe	p.S376F	ENST00000261837	NM_016194.3	376	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS10149.1	1127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGAAACT	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Superfamily_domains:SSF50978	.	.	ENSP00000261837	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000261837	Transcript	.	.	ENSG00000069966	4401	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GBB5_HUMAN	GNB5	HGNC	H0YLU1_HUMAN	.	UPI000006E214	SNV	GNB5,missense_variant,p.Ser334Phe,ENST00000358784,;GNB5,missense_variant,p.Ser264Phe,ENST00000396335,;GNB5,missense_variant,p.Ser376Phe,ENST00000261837,;CTD-2184D3.6,downstream_gene_variant,,ENST00000559825,;CTD-2184D3.7,upstream_gene_variant,,ENST00000557898,;GNB5,non_coding_transcript_exon_variant,,ENST00000559348,;GNB5,3_prime_UTR_variant,,ENST00000558519,;GNB5,non_coding_transcript_exon_variant,,ENST00000557936,;GNB5,intron_variant,,ENST00000560085,;GNB5,downstream_gene_variant,,ENST00000559541,;	1193	92	122	SUCCESS
SLTM	79811	.	GRCh37	15	59186734	59186734	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	84	1	ENST00000380516.2:c.1275A>T	p.Lys425Asn	p.K425N	ENST00000380516	NM_001013843.1	425	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS10168.2	1275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCATTTTGC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000369887	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000380516	Transcript	.	.	ENSG00000137776	20709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	SLTM_HUMAN	SLTM	HGNC	H0YKH2_HUMAN,A8K5V8_HUMAN	.	UPI0000039EA4	SNV	SLTM,missense_variant,p.Lys407Asn,ENST00000249736,;SLTM,missense_variant,p.Lys18Asn,ENST00000432750,;SLTM,missense_variant,p.Lys425Asn,ENST00000380516,;SLTM,5_prime_UTR_variant,,ENST00000536328,;RNF111,intron_variant,,ENST00000559757,;AC025918.2,downstream_gene_variant,,ENST00000452467,;SLTM,3_prime_UTR_variant,,ENST00000559305,;SLTM,3_prime_UTR_variant,,ENST00000558756,;SLTM,3_prime_UTR_variant,,ENST00000492526,;SLTM,3_prime_UTR_variant,,ENST00000557924,;SLTM,non_coding_transcript_exon_variant,,ENST00000473359,;SLTM,non_coding_transcript_exon_variant,,ENST00000497088,;SLTM,downstream_gene_variant,,ENST00000480144,;SLTM,upstream_gene_variant,,ENST00000558734,;	1363	85	119	SUCCESS
NTRK3	4916	.	GRCh37	15	88678582	88678582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	41	0	ENST00000360948.2:c.954G>T	p.Glu318Asp	p.E318D	ENST00000360948	NM_001012338.2	318	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS32322.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCTCCAG	NONE	.	.	Prints_domain:PR01942,hmmpanther:PTHR24416:SF66,hmmpanther:PTHR24416	.	.	ENSP00000354207	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.18)	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,missense_variant,p.Glu318Asp,ENST00000317501,;NTRK3,missense_variant,p.Glu318Asp,ENST00000558676,;NTRK3,missense_variant,p.Glu318Asp,ENST00000557856,;NTRK3,missense_variant,p.Glu318Asp,ENST00000540489,;NTRK3,missense_variant,p.Glu318Asp,ENST00000357724,;NTRK3,missense_variant,p.Glu318Asp,ENST00000394480,;NTRK3,missense_variant,p.Glu220Asp,ENST00000542733,;NTRK3,missense_variant,p.Glu318Asp,ENST00000355254,;NTRK3,missense_variant,p.Glu318Asp,ENST00000360948,;NTRK3,intron_variant,,ENST00000560017,;NTRK3,downstream_gene_variant,,ENST00000559188,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559764,;	1116	41	70	SUCCESS
SV2B	9899	.	GRCh37	15	91832791	91832792	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1567438858	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	53	0	ENST00000330276.4:c.1755dup	p.Gly586TrpfsTer4	p.G586Wfs*4	ENST00000330276		583	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS10370.1	1749-1750	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTGTTTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF1,Gene3D:1.20.1250.20,Pfam_domain:PF07690,TIGRFAM_domain:TIGR01299,Superfamily_domains:SSF103473	.	.	ENSP00000377779	.	12/13	.	.	.	.	.	.	.	.	COSM1180824	12/13	PASS	ENST00000394232	Transcript	.	.	ENSG00000185518	16874	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	SV2B_HUMAN	SV2B	HGNC	.	.	UPI000006FCF1	insertion	SV2B,frameshift_variant,p.Gly586TrpfsTer4,ENST00000330276,;SV2B,frameshift_variant,p.Gly586TrpfsTer4,ENST00000394232,;SV2B,frameshift_variant,p.Gly435TrpfsTer4,ENST00000545111,;SV2B,frameshift_variant,p.Gly586TrpfsTer4,ENST00000557410,;	2219-2220	53	72	SUCCESS
BRD7	29117	.	GRCh37	16	50357604	50357604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs539023856	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	58	0	ENST00000394688.3:c.1337A>G	p.His446Arg	p.H446R	ENST00000394688		446	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS54007.1	1337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCATGGATG	NONE	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12	.	.	ENSP00000378181	.	12/17	.	.	.	.	.	.	.	.	rs539023856	12/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	tolerated(0.53)	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,missense_variant,p.His446Arg,ENST00000394688,;BRD7,missense_variant,p.His446Arg,ENST00000394689,;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;	1342	58	70	SUCCESS
CNOT1	23019	.	GRCh37	16	58559196	58559196	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	38	0	ENST00000317147.5:c.6671C>A	p.Thr2224Asn	p.T2224N	ENST00000317147	NM_016284.4	2224	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS10799.1	6671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGTCCCG	NONE	.	.	hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162,Pfam_domain:PF04054	.	.	ENSP00000320949	.	46/49	.	.	.	.	.	.	.	.	.	46/49	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	deleterious(0.02)	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	SNV	CNOT1,missense_variant,p.Thr2224Asn,ENST00000317147,;CNOT1,missense_variant,p.Thr2219Asn,ENST00000569240,;CNOT1,missense_variant,p.Thr1075Asn,ENST00000245138,;SETD6,downstream_gene_variant,,ENST00000394266,;CNOT1,3_prime_UTR_variant,,ENST00000567188,;CNOT1,non_coding_transcript_exon_variant,,ENST00000569924,;CNOT1,non_coding_transcript_exon_variant,,ENST00000563130,;CNOT1,downstream_gene_variant,,ENST00000570139,;	7004	38	81	SUCCESS
CMTR2	55783	.	GRCh37	16	71318721	71318721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	37	127	0	ENST00000338099.5:c.1103A>G	p.His368Arg	p.H368R	ENST00000338099		368	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS10898.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATGAAAG	NONE	.	.	hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF1	.	.	ENSP00000337512	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338099	Transcript	.	.	ENSG00000180917	25635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	deleterious(0.04)	.	CMTR2_HUMAN	CMTR2	HGNC	H3BUK2_HUMAN,H3BTZ7_HUMAN,H3BS00_HUMAN,H3BR19_HUMAN,H3BNZ8_HUMAN	.	UPI000006EA8B	SNV	CMTR2,missense_variant,p.His368Arg,ENST00000434935,;CMTR2,missense_variant,p.His368Arg,ENST00000338099,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564690,;	1440	127	135	SUCCESS
HAGHL	84264	.	GRCh37	16	777615	777615	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs761851848	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	77	0	ENST00000341413.4:c.105+1G>T		p.X35_splice	ENST00000341413		35		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32354.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGTGAGG	NONE	byFrequency	.	.	.	.	ENSP00000374353	.	.	.	.	.	.	.	.	.	.	rs761851848	.	PASS	ENST00000389703	Transcript	.	.	ENSG00000103253	14177	.	.	HIGH	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAGHL_HUMAN	HAGHL	HGNC	H3BT20_HUMAN,B4DED4_HUMAN	.	UPI00000498AB	SNV	HAGHL,splice_donor_variant,,ENST00000564537,;HAGHL,splice_donor_variant,,ENST00000389703,;HAGHL,splice_donor_variant,,ENST00000561546,;HAGHL,splice_donor_variant,,ENST00000562141,;HAGHL,splice_donor_variant,,ENST00000564545,;HAGHL,splice_donor_variant,,ENST00000568141,;HAGHL,splice_donor_variant,,ENST00000341413,;HAGHL,splice_donor_variant,,ENST00000567414,;HAGHL,splice_donor_variant,,ENST00000549114,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000301694,;CCDC78,upstream_gene_variant,,ENST00000293889,;HAGHL,downstream_gene_variant,,ENST00000562187,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,upstream_gene_variant,,ENST00000563792,;CCDC78,upstream_gene_variant,,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,splice_donor_variant,,ENST00000561750,;HAGHL,splice_donor_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000569143,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;CCDC78,upstream_gene_variant,,ENST00000471861,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000478979,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000561561,;NARFL,downstream_gene_variant,,ENST00000566650,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;CCDC78,upstream_gene_variant,,ENST00000481804,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000538176,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000485091,;	.	77	99	SUCCESS
ZNF469	84627	.	GRCh37	16	88496981	88496981	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs941459001	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	43	187	0	ENST00000437464.1:c.3103G>T	p.Asp1035Tyr	p.D1035Y	ENST00000437464	NM_001127464.1	1035	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS45544.1	3103	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGACCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Asp1035Tyr,ENST00000565624,;ZNF469,missense_variant,p.Asp1035Tyr,ENST00000437464,;	3103	187	224	SUCCESS
CLUH	23277	.	GRCh37	17	2604933	2604933	+	synonymous_variant	Silent	SNP	G	G	A	rs1353493911	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	9	35	0	ENST00000435359.1:c.604C>T	p.Leu202=	p.L202=	ENST00000435359	NM_015229.3	202	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45572.1	604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGGGAC	NONE	.	.	HAMAP:MF_03013,hmmpanther:PTHR12601,hmmpanther:PTHR12601:SF10,Superfamily_domains:0049393	.	.	ENSP00000458986	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000570628	Transcript	.	.	ENSG00000132361	29094	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLU_HUMAN	CLUH	HGNC	I3L3A3_HUMAN,I3L350_HUMAN,I3L318_HUMAN	.	UPI00004C8042	SNV	CLUH,synonymous_variant,p.%3D,ENST00000435359,;CLUH,synonymous_variant,p.%3D,ENST00000575014,;CLUH,synonymous_variant,p.%3D,ENST00000574426,;CLUH,synonymous_variant,p.%3D,ENST00000538975,;CLUH,synonymous_variant,p.%3D,ENST00000570628,;CLUH,downstream_gene_variant,,ENST00000576885,;CLUH,downstream_gene_variant,,ENST00000571566,;CLUH,downstream_gene_variant,,ENST00000576309,;CLUH,upstream_gene_variant,,ENST00000572129,;CLUH,upstream_gene_variant,,ENST00000571539,;	710	35	58	SUCCESS
ZNF207	7756	.	GRCh37	17	30687931	30687931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	20	80	0	ENST00000321233.6:c.496G>A	p.Gly166Ser	p.G166S	ENST00000321233	NM_003457.3	166	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS42294.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGTGTT	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01217,hmmpanther:PTHR23215	.	.	ENSP00000378165	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000394670	Transcript	.	.	ENSG00000010244	12998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.04)	.	ZN207_HUMAN	ZNF207	HGNC	Q8N395_HUMAN,J3QS27_HUMAN,J3KTL1_HUMAN,J3KRW6_HUMAN,J3KRB6_HUMAN,H0Y3M2_HUMAN	.	UPI000020164D	SNV	ZNF207,missense_variant,p.Gly67Ser,ENST00000341711,;ZNF207,missense_variant,p.Gly166Ser,ENST00000394670,;ZNF207,missense_variant,p.Gly166Ser,ENST00000577908,;ZNF207,missense_variant,p.Gly112Ser,ENST00000394679,;ZNF207,missense_variant,p.Gly166Ser,ENST00000321233,;ZNF207,missense_variant,p.Gly166Ser,ENST00000394673,;ZNF207,missense_variant,p.Gly169Ser,ENST00000342555,;ZNF207,downstream_gene_variant,,ENST00000582165,;ZNF207,downstream_gene_variant,,ENST00000580759,;ZNF207,downstream_gene_variant,,ENST00000579634,;ZNF207,downstream_gene_variant,,ENST00000578918,;RP11-227G15.3,downstream_gene_variant,,ENST00000578389,;RP11-227G15.3,downstream_gene_variant,,ENST00000581915,;ZNF207,missense_variant,p.Gly13Ser,ENST00000581531,;ZNF207,non_coding_transcript_exon_variant,,ENST00000577324,;ZNF207,upstream_gene_variant,,ENST00000582705,;ZNF207,upstream_gene_variant,,ENST00000579416,;	665	80	99	SUCCESS
AP2B1	163	.	GRCh37	17	34001338	34001338	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	33	0	ENST00000312678.8:c.2322T>A	p.Asn774Lys	p.N774K	ENST00000312678	NM_001030006.1	774	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS32621.1	2322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAATAGGTA	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Pfam_domain:PF02883,Gene3D:2g30A01,SMART_domains:SM00809,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF49348	.	.	ENSP00000314414	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,missense_variant,p.Asn774Lys,ENST00000589344,;AP2B1,missense_variant,p.Asn760Lys,ENST00000262325,;AP2B1,missense_variant,p.Asn774Lys,ENST00000312678,;AP2B1,missense_variant,p.Asn736Lys,ENST00000592545,;AP2B1,missense_variant,p.Asn703Lys,ENST00000538556,;AP2B1,missense_variant,p.Asn774Lys,ENST00000537622,;AP2B1,splice_region_variant,,ENST00000545922,;AP2B1,splice_region_variant,,ENST00000592191,;	2452	33	52	SUCCESS
FMNL1	752	.	GRCh37	17	43321209	43321209	+	synonymous_variant	Silent	SNP	C	C	T	rs1375824695	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	23	0	ENST00000331495.3:c.2265C>T	p.Phe755=	p.F755=	ENST00000331495	NM_005892.3	755	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS11497.1	2265	MUTECT|MUSE	.	CGCTTCCTGCC	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000329219	.	18/27	.	.	.	.	.	.	.	.	COSM3518236	18/27	PASS	ENST00000331495	Transcript	.	.	ENSG00000184922	1212	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	FMNL_HUMAN	FMNL1	HGNC	.	.	UPI0000246EE9	SNV	FMNL1,synonymous_variant,p.%3D,ENST00000331495,;FMNL1,synonymous_variant,p.%3D,ENST00000328118,;FMNL1,synonymous_variant,p.%3D,ENST00000587489,;FMNL1,synonymous_variant,p.%3D,ENST00000586643,;FMNL1,upstream_gene_variant,,ENST00000586092,;FMNL1,upstream_gene_variant,,ENST00000589911,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,;CTD-2020K17.4,downstream_gene_variant,,ENST00000420431,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,;FMNL1,downstream_gene_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	2601	23	22	SUCCESS
ENO3	2027	.	GRCh37	17	4859417	4859417	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs777965106	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	44	0	ENST00000323997.6:c.1046C>A	p.Ser349Ter	p.S349*	ENST00000323997	NM_001976.4	349	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS11062.1	1046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTCGGTGA	NONE	.	.	HAMAP:MF_00318,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF5,PROSITE_patterns:PS00164,TIGRFAM_domain:TIGR01060,Pfam_domain:PF00113,Gene3D:3.20.20.120,PIRSF_domain:PIRSF001400,Superfamily_domains:SSF51604,Prints_domain:PR00148	.	.	ENSP00000324105	.	9/12	.	.	.	.	.	.	.	.	rs777965106	9/12	PASS	ENST00000323997	Transcript	.	.	ENSG00000108515	3354	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENOB_HUMAN	ENO3	HGNC	K7EPM1_HUMAN,K7EP84_HUMAN,K7EKN2_HUMAN,E5RI09_HUMAN,E5RGZ4_HUMAN,E5RG95_HUMAN,D3DTL4_HUMAN	.	UPI000016A894	SNV	ENO3,stop_gained,p.Ser349Ter,ENST00000518175,;ENO3,stop_gained,p.Ser349Ter,ENST00000323997,;ENO3,stop_gained,p.Ser306Ter,ENST00000519584,;ENO3,downstream_gene_variant,,ENST00000522249,;SPAG7,downstream_gene_variant,,ENST00000206020,;ENO3,downstream_gene_variant,,ENST00000519602,;ENO3,downstream_gene_variant,,ENST00000519266,;SPAG7,downstream_gene_variant,,ENST00000575142,;ENO3,downstream_gene_variant,,ENST00000520221,;SPAG7,downstream_gene_variant,,ENST00000573366,;ENO3,downstream_gene_variant,,ENST00000522798,;ENO3,downstream_gene_variant,,ENST00000522301,;ENO3,downstream_gene_variant,,ENST00000521811,;ENO3,non_coding_transcript_exon_variant,,ENST00000522425,;SPAG7,downstream_gene_variant,,ENST00000572148,;ENO3,upstream_gene_variant,,ENST00000522954,;ENO3,downstream_gene_variant,,ENST00000519834,;ENO3,downstream_gene_variant,,ENST00000571235,;ENO3,downstream_gene_variant,,ENST00000519300,;ENO3,downstream_gene_variant,,ENST00000518972,;SPAG7,downstream_gene_variant,,ENST00000573805,;ENO3,downstream_gene_variant,,ENST00000521659,;SPAG7,downstream_gene_variant,,ENST00000575784,;	1178	44	66	SUCCESS
FASN	2194	.	GRCh37	17	80043185	80043185	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1310780026	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	49	119	0	ENST00000306749.2:c.4216C>T	p.Pro1406Ser	p.P1406S	ENST00000306749	NM_004104.4	1406	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11801.1	4216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGCCGGC	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227	.	.	ENSP00000304592	.	24/43	.	.	.	.	.	.	.	.	.	24/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.75)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Pro1406Ser,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000580382,;	4435	119	165	SUCCESS
OSBPL1A	114876	.	GRCh37	18	21860862	21860862	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1225134138	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	31	0	ENST00000319481.3:c.1225A>T	p.Arg409Ter	p.R409*	ENST00000319481	NM_080597.3	409	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11884.1	1225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTAGAAG	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF53	.	.	ENSP00000320291	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000319481	Transcript	.	.	ENSG00000141447	16398	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL1_HUMAN	OSBPL1A	HGNC	Q96IZ3_HUMAN,Q6GSK5_HUMAN,B0YJ56_HUMAN	.	UPI0000130E95	SNV	OSBPL1A,stop_gained,p.Arg409Ter,ENST00000319481,;OSBPL1A,stop_gained,p.Arg27Ter,ENST00000357041,;OSBPL1A,non_coding_transcript_exon_variant,,ENST00000581043,;OSBPL1A,synonymous_variant,p.%3D,ENST00000584119,;OSBPL1A,3_prime_UTR_variant,,ENST00000579851,;OSBPL1A,3_prime_UTR_variant,,ENST00000578091,;	1432	31	36	SUCCESS
SMCHD1	23347	.	GRCh37	18	2747624	2747624	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	50	178	0	ENST00000320876.6:c.3906T>A	p.Leu1302=	p.L1302=	ENST00000320876	NM_015295.2	1302	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45822.1	3906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTACAAA	NONE	.	.	hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	.	.	ENSP00000326603	.	30/48	.	.	.	.	.	.	.	.	.	30/48	PASS	ENST00000320876	Transcript	.	.	ENSG00000101596	29090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMHD1_HUMAN	SMCHD1	HGNC	.	.	UPI00001D7AAD	SNV	SMCHD1,synonymous_variant,p.%3D,ENST00000320876,;SMCHD1,synonymous_variant,p.%3D,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,synonymous_variant,p.%3D,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,upstream_gene_variant,,ENST00000583441,;	4244	179	248	SUCCESS
CREB3L3	84699	.	GRCh37	19	4171378	4171378	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	32	0	ENST00000078445.2:c.976-2A>T		p.X326_splice	ENST00000078445	NM_032607.2	326		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12121.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGGTCC	NONE	.	.	.	.	.	ENSP00000078445	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000078445	Transcript	1	.	ENSG00000060566	18855	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR3L3_HUMAN	CREB3L3	HGNC	.	.	UPI000006FCF0	SNV	CREB3L3,splice_acceptor_variant,,ENST00000602147,;CREB3L3,splice_acceptor_variant,,ENST00000252587,;CREB3L3,splice_acceptor_variant,,ENST00000078445,;CREB3L3,splice_acceptor_variant,,ENST00000602257,;CREB3L3,splice_acceptor_variant,,ENST00000595923,;SIRT6,downstream_gene_variant,,ENST00000601488,;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000381935,;SIRT6,downstream_gene_variant,,ENST00000337491,;SIRT6,downstream_gene_variant,,ENST00000594279,;SIRT6,downstream_gene_variant,,ENST00000305232,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,splice_acceptor_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599365,;SIRT6,downstream_gene_variant,,ENST00000600938,;SIRT6,downstream_gene_variant,,ENST00000599394,;SIRT6,downstream_gene_variant,,ENST00000601069,;	.	32	69	SUCCESS
CEACAM18	729767	.	GRCh37	19	51983676	51983676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775191087	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	93	0	ENST00000396477.4:c.142G>A	p.Ala48Thr	p.A48T	ENST00000396477	NM_001278392.1	48	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	325	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGCCCTG	NONE	byFrequency	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF6,SMART_domains:SM00409	.	.	ENSP00000402203	.	3/5	.	.	.	.	.	.	.	.	rs775191087,COSM1000037,COSM1000036	3/5	PASS	ENST00000451626	Transcript	.	.	ENSG00000213822	31949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	benign(0.069)	.	tolerated(0.57)	0,1,1	.	CEACAM18	HGNC	.	.	UPI0000DD8506	SNV	CEACAM18,missense_variant,p.Ala109Thr,ENST00000451626,;CEACAM18,missense_variant,p.Ala48Thr,ENST00000396477,;	325	93	108	SUCCESS
RPS9	6203	.	GRCh37	19	54711353	54711354	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GGGG	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	41	0	ENST00000302907.4:c.497_500dup	p.Arg169TrpfsTer?	p.R169Wfs*?	ENST00000302907	NM_001013.3	165	-/GGGG	0	.	.	.	.	.	GGGG	-/GX	protein_coding	YES	CCDS12884.1	495-496	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTACGGGGG	NONE	.	.	PROSITE_profiles:PS50889,hmmpanther:PTHR11831,SMART_domains:SM00363	.	.	ENSP00000302896	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000302907	Transcript	.	.	ENSG00000170889	10442	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RS9_HUMAN	RPS9	HGNC	.	.	UPI00000040B2	insertion	RPS9,frameshift_variant,p.Arg169TrpfsTer?,ENST00000391752,;RPS9,frameshift_variant,p.Arg169TrpfsTer?,ENST00000391753,;RPS9,frameshift_variant,p.Arg169TrpfsTer?,ENST00000302907,;RPS9,3_prime_UTR_variant,,ENST00000391751,;RPS9,3_prime_UTR_variant,,ENST00000402367,;RPS9,3_prime_UTR_variant,,ENST00000441429,;RPS9,3_prime_UTR_variant,,ENST00000445961,;RPS9,3_prime_UTR_variant,,ENST00000436445,;RPS9,non_coding_transcript_exon_variant,,ENST00000495002,;RPS9,intron_variant,,ENST00000448962,;RPS9,downstream_gene_variant,,ENST00000484121,;AC012314.19,downstream_gene_variant,,ENST00000413723,;	667-668	41	46	SUCCESS
TUBB4A	10382	.	GRCh37	19	6496156	6496156	+	synonymous_variant	Silent	SNP	G	G	A	rs748051542	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	14	49	0	ENST00000264071.2:c.354C>T	p.Asp118=	p.D118=	ENST00000264071		118	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS12168.1	354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACGTCCAG	NONE	.	.	hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01163,Prints_domain:PR01161	.	.	ENSP00000264071	.	4/4	.	.	.	.	.	.	.	.	rs748051542,COSM1002965	4/4	PASS	ENST00000264071	Transcript	1	.	ENSG00000104833	20774	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,missense_variant,p.Thr104Met,ENST00000598006,;TUBB4A,missense_variant,p.Thr93Met,ENST00000601152,;TUBB4A,synonymous_variant,p.%3D,ENST00000596291,;TUBB4A,synonymous_variant,p.%3D,ENST00000264071,;TUBB4A,synonymous_variant,p.%3D,ENST00000600216,;TUBB4A,synonymous_variant,p.%3D,ENST00000540257,;TUBB4A,synonymous_variant,p.%3D,ENST00000597686,;TUBB4A,3_prime_UTR_variant,,ENST00000596926,;TUBB4A,intron_variant,,ENST00000594075,;TUBB4A,intron_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,3_prime_UTR_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,;	726	49	69	SUCCESS
NDUFA7	4701	.	GRCh37	19	8386229	8386229	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755060335	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	52	0	ENST00000301457.2:c.14C>T	p.Thr5Ile	p.T5I	ENST00000301457	NM_005001.3	5	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS42492.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGGTGGCG	NONE	.	.	hmmpanther:PTHR12485,Pfam_domain:PF07347	.	.	ENSP00000301457	.	1/4	.	.	.	.	.	.	.	.	rs755060335	1/4	PASS	ENST00000301457	Transcript	.	.	ENSG00000267855	7691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	NDUA7_HUMAN	NDUFA7	HGNC	Q6FG42_HUMAN,Q32Q14_HUMAN	.	UPI000016976C	SNV	NDUFA7,missense_variant,p.Thr5Ile,ENST00000301457,;RPS28,upstream_gene_variant,,ENST00000600659,;KANK3,downstream_gene_variant,,ENST00000593649,;KANK3,downstream_gene_variant,,ENST00000330915,;NDUFA7,missense_variant,p.Thr5Ile,ENST00000601101,;NDUFA7,missense_variant,p.Thr5Ile,ENST00000593729,;NDUFA7,missense_variant,p.Thr5Ile,ENST00000595856,;NDUFA7,missense_variant,p.Thr5Ile,ENST00000598884,;RPS28,non_coding_transcript_exon_variant,,ENST00000449223,;RPS28,upstream_gene_variant,,ENST00000417088,;NDUFA7,upstream_gene_variant,,ENST00000602059,;RPS28,upstream_gene_variant,,ENST00000602140,;NDUFA7,upstream_gene_variant,,ENST00000601258,;	52	52	83	SUCCESS
WDR47	22911	.	GRCh37	1	109544870	109544870	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	11	0	ENST00000369962.3:c.1409A>G	p.Asn470Ser	p.N470S	ENST00000369962		470	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS44186.1	1433	MUTECT|MUSE	.	TAAGATTCTGC	NONE	.	.	hmmpanther:PTHR19863	.	.	ENSP00000383599	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000400794	Transcript	.	.	ENSG00000085433	29141	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.37)	.	WDR47_HUMAN	WDR47	HGNC	E9PKZ6_HUMAN	.	UPI0001639B05	SNV	WDR47,missense_variant,p.Asn471Ser,ENST00000369965,;WDR47,missense_variant,p.Asn478Ser,ENST00000400794,;WDR47,missense_variant,p.Asn442Ser,ENST00000361054,;WDR47,missense_variant,p.Asn442Ser,ENST00000357672,;WDR47,missense_variant,p.Asn470Ser,ENST00000369962,;	1567	11	13	SUCCESS
GABPB2	126626	.	GRCh37	1	151079530	151079530	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	15	56	0	ENST00000368918.3:c.754A>G	p.Ile252Val	p.I252V	ENST00000368918	NM_144618.2	252	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS983.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTATAGAA	NONE	.	.	hmmpanther:PTHR24193,hmmpanther:PTHR24193:SF72	.	.	ENSP00000357914	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000368918	Transcript	.	.	ENSG00000143458	28441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	GABP2_HUMAN	GABPB2	HGNC	.	.	UPI000004C094	SNV	GABPB2,missense_variant,p.Ile214Val,ENST00000368916,;GABPB2,missense_variant,p.Ile214Val,ENST00000368917,;GABPB2,missense_variant,p.Ile252Val,ENST00000368918,;GABPB2,non_coding_transcript_exon_variant,,ENST00000467551,;GABPB2,non_coding_transcript_exon_variant,,ENST00000489549,;RP11-68I18.2,downstream_gene_variant,,ENST00000456396,;	1085	56	98	SUCCESS
PIGM	93183	.	GRCh37	1	160000854	160000854	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1163274966	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	28	86	0	ENST00000368090.2:c.676G>T	p.Ala226Ser	p.A226S	ENST00000368090	NM_145167.2	226	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1192.1	676	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCCCGAT	NONE	.	.	hmmpanther:PTHR12886:SF0,hmmpanther:PTHR12886,Pfam_domain:PF05007	.	.	ENSP00000357069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368090	Transcript	.	.	ENSG00000143315	18858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated(0.73)	.	PIGM_HUMAN	PIGM	HGNC	.	.	UPI000006D9D7	SNV	PIGM,missense_variant,p.Ala226Ser,ENST00000368090,;RP11-226L15.5,upstream_gene_variant,,ENST00000562313,;	930	86	188	SUCCESS
TROVE2	0	.	GRCh37	1	193045716	193045716	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	311	78	235	0	ENST00000367446.3:c.887C>T	p.Pro296Leu	p.P296L	ENST00000367446	NM_004600.5	296	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1379.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACCAGGAA	NONE	.	.	PROSITE_profiles:PS50988,hmmpanther:PTHR14202:SF0,hmmpanther:PTHR14202,Pfam_domain:PF05731,Superfamily_domains:0051422	.	.	ENSP00000356416	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000367446	Transcript	.	.	ENSG00000116747	11313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	tolerated(0.15)	.	RO60_HUMAN	TROVE2	HGNC	G5E9R9_HUMAN,D6RDN1_HUMAN	.	UPI0000072E7F	SNV	TROVE2,missense_variant,p.Pro296Leu,ENST00000367444,;TROVE2,missense_variant,p.Pro21Leu,ENST00000432079,;TROVE2,missense_variant,p.Pro21Leu,ENST00000416058,;TROVE2,missense_variant,p.Pro296Leu,ENST00000400968,;TROVE2,missense_variant,p.Pro296Leu,ENST00000367441,;TROVE2,missense_variant,p.Pro296Leu,ENST00000367446,;TROVE2,missense_variant,p.Pro296Leu,ENST00000367443,;TROVE2,missense_variant,p.Pro296Leu,ENST00000367445,;TROVE2,downstream_gene_variant,,ENST00000415442,;TROVE2,downstream_gene_variant,,ENST00000512587,;TROVE2,non_coding_transcript_exon_variant,,ENST00000460715,;	1097	235	389	SUCCESS
HHAT	55733	.	GRCh37	1	210637884	210637884	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	53	0	ENST00000261458.3:c.892G>T	p.Val298Leu	p.V298L	ENST00000261458	NM_018194.4	298	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS53471.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACGTGAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20,Pfam_domain:PF03062	.	.	ENSP00000438468	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	tolerated(0.1)	.	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Val235Leu,ENST00000545781,;HHAT,missense_variant,p.Val298Leu,ENST00000367010,;HHAT,missense_variant,p.Val298Leu,ENST00000413764,;HHAT,missense_variant,p.Val233Leu,ENST00000537898,;HHAT,missense_variant,p.Val253Leu,ENST00000308852,;HHAT,missense_variant,p.Val299Leu,ENST00000545154,;HHAT,missense_variant,p.Val298Leu,ENST00000391905,;HHAT,missense_variant,p.Val161Leu,ENST00000541565,;HHAT,missense_variant,p.Val298Leu,ENST00000261458,;HHAT,missense_variant,p.Val170Leu,ENST00000426968,;HHAT,5_prime_UTR_variant,,ENST00000367009,;RP5-879K22.1,upstream_gene_variant,,ENST00000605288,;	1000	53	86	SUCCESS
EPHX1	2052	.	GRCh37	1	226027596	226027596	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	85	0	ENST00000272167.5:c.789C>T	p.Leu263=	p.L263=	ENST00000272167	NM_001136018.2	263	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1547.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF10,Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF001112,Superfamily_domains:SSF53474	.	.	ENSP00000355802	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000366837	Transcript	.	.	ENSG00000143819	3401	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYEP_HUMAN	EPHX1	HGNC	R4SBI6_HUMAN,B1AQP9_HUMAN,B1AQP8_HUMAN	.	UPI000012CFF2	SNV	EPHX1,synonymous_variant,p.%3D,ENST00000366837,;EPHX1,synonymous_variant,p.%3D,ENST00000272167,;EPHX1,downstream_gene_variant,,ENST00000448202,;EPHX1,downstream_gene_variant,,ENST00000445856,;RP11-285F7.2,downstream_gene_variant,,ENST00000424332,;	985	85	161	SUCCESS
OR2T4	127074	.	GRCh37	1	248525799	248525799	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	548	144	461	0	ENST00000366475.1:c.917T>C	p.Val306Ala	p.V306A	ENST00000366475	NM_001004696.1	306	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31113.1	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGTATCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355431	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366475	Transcript	.	.	ENSG00000196944	15016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.03)	.	OR2T4_HUMAN	OR2T4	HGNC	.	.	UPI000004B9CC	SNV	OR2T4,missense_variant,p.Val306Ala,ENST00000366475,;	917	461	692	SUCCESS
PGBD2	267002	.	GRCh37	1	249212344	249212344	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746618609	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	54	0	ENST00000329291.5:c.1561G>T	p.Ala521Ser	p.A521S	ENST00000329291	NM_170725.2	521	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS31128.1	1561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTGCCTGT	NONE	byFrequency	.	.	.	.	ENSP00000331643	.	3/3	.	.	.	.	.	.	.	.	rs746618609	3/3	PASS	ENST00000329291	Transcript	.	.	ENSG00000185220	19399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	deleterious(0.01)	.	PGBD2_HUMAN	PGBD2	HGNC	.	.	UPI000016196D	SNV	PGBD2,missense_variant,p.Ala518Ser,ENST00000539153,;PGBD2,missense_variant,p.Ala521Ser,ENST00000329291,;PGBD2,missense_variant,p.Ala270Ser,ENST00000355360,;PGBD2,downstream_gene_variant,,ENST00000462488,;	1708	54	75	SUCCESS
ARFGEF2	10564	.	GRCh37	20	47604882	47604882	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs562272956	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	61	0	ENST00000371917.4:c.2318C>T	p.Ala773Val	p.A773V	ENST00000371917	NM_006420.2	773	gCg/gTg	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS13411.1	2318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGCGTATT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	T:0.003	.	ENSP00000360985	T:0	17/39	.	.	.	.	.	.	.	.	rs562272956,COSM189792	17/39	PASS	ENST00000371917	Transcript	1	T:0.0006	ENSG00000124198	15853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.994)	T:0	deleterious(0)	0,1	BIG2_HUMAN	ARFGEF2	HGNC	Q59FR3_HUMAN	.	UPI000013D378	SNV	ARFGEF2,missense_variant,p.Ala773Val,ENST00000371917,;	2318	61	76	SUCCESS
NPEPL1	79716	.	GRCh37	20	57289000	57289000	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1430790801	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	39	0	ENST00000356091.6:c.1153G>A	p.Ala385Thr	p.A385T	ENST00000356091	NM_024663.3	385	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46621.1	1153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCGCGGTG	NONE	.	.	hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000348395	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000356091	Transcript	.	.	ENSG00000215440	16244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PEPL1_HUMAN	NPEPL1	HGNC	H0UI76_HUMAN	.	UPI000036789E	SNV	NPEPL1,missense_variant,p.Ala337Thr,ENST00000525817,;NPEPL1,missense_variant,p.Ala357Thr,ENST00000525967,;NPEPL1,missense_variant,p.Ala385Thr,ENST00000356091,;RP11-261P9.4,downstream_gene_variant,,ENST00000530479,;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000525068,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527081,;NPEPL1,downstream_gene_variant,,ENST00000533788,;NPEPL1,upstream_gene_variant,,ENST00000532531,;	1441	39	47	SUCCESS
COL20A1	57642	.	GRCh37	20	61945549	61945549	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	9	105	0	ENST00000358894.6:c.2484G>T	p.Gln828His	p.Q828H	ENST00000358894	NM_020882.2	828	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS46628.1	2484	MUTECT|MUSE	.	GGCCAGACAGG	NONE	.	.	Gene3D:2.60.40.10,PROSITE_profiles:PS50853	.	.	ENSP00000351767	.	19/36	.	.	.	.	.	.	.	.	.	19/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.12)	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,missense_variant,p.Gln828His,ENST00000358894,;COL20A1,missense_variant,p.Gln835His,ENST00000422202,;COL20A1,missense_variant,p.Gln828His,ENST00000326996,;COL20A1,missense_variant,p.Gln835His,ENST00000435874,;COL20A1,upstream_gene_variant,,ENST00000415763,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	2584	105	165	SUCCESS
BACH1	571	.	GRCh37	21	30699119	30699119	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	18	71	0	ENST00000286800.3:c.977del	p.Leu326TyrfsTer10	p.L326Yfs*10	ENST00000286800	NM_001186.2	325	cTt/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS13585.1	974	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCTCTTTTAC	NONE	.	.	.	.	.	ENSP00000382805	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000399921	Transcript	.	.	ENSG00000156273	935	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BACH1_HUMAN	BACH1	HGNC	Q6ICU0_HUMAN,F8VZL7_HUMAN,C9JMP6_HUMAN,C9IYR0_HUMAN,C9IYH8_HUMAN	.	UPI000012673F	deletion	BACH1,frameshift_variant,p.Leu326TyrfsTer10,ENST00000286800,;BACH1,frameshift_variant,p.Leu326TyrfsTer10,ENST00000399921,;BACH1,downstream_gene_variant,,ENST00000451655,;BACH1,upstream_gene_variant,,ENST00000468059,;BACH1,downstream_gene_variant,,ENST00000447177,;BACH1,upstream_gene_variant,,ENST00000422809,;BACH1,downstream_gene_variant,,ENST00000435072,;	1217	71	80	SUCCESS
LRP1B	53353	.	GRCh37	2	141625228	141625228	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	24	118	0	ENST00000389484.3:c.4510A>G	p.Ser1504Gly	p.S1504G	ENST00000389484	NM_018557.2	1504	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS2182.1	4510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTGACAT	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	27/91	.	.	.	.	.	.	.	.	.	27/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Ser1504Gly,ENST00000389484,;LRP1B,missense_variant,p.Ser649Gly,ENST00000434794,;	5482	118	124	SUCCESS
TPO	7173	.	GRCh37	2	1459868	1459868	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	31	114	0	ENST00000329066.4:c.633T>A	p.His211Gln	p.H211Q	ENST00000329066	NM_001206744.1	211	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS1643.1	633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATGTCAT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.His211Gln,ENST00000329066,;TPO,missense_variant,p.His211Gln,ENST00000337415,;TPO,missense_variant,p.His211Gln,ENST00000382198,;TPO,missense_variant,p.His211Gln,ENST00000382201,;TPO,missense_variant,p.His211Gln,ENST00000349624,;TPO,missense_variant,p.His211Gln,ENST00000346956,;TPO,missense_variant,p.His140Gln,ENST00000422464,;TPO,missense_variant,p.His211Gln,ENST00000345913,;TPO,downstream_gene_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	724	114	159	SUCCESS
TPO	7173	.	GRCh37	2	1459869	1459869	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	31	113	0	ENST00000329066.4:c.634G>T	p.Val212Phe	p.V212F	ENST00000329066	NM_001206744.1	212	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS1643.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATGTCATT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	deleterious(0)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Val212Phe,ENST00000329066,;TPO,missense_variant,p.Val212Phe,ENST00000337415,;TPO,missense_variant,p.Val212Phe,ENST00000382198,;TPO,missense_variant,p.Val212Phe,ENST00000382201,;TPO,missense_variant,p.Val212Phe,ENST00000349624,;TPO,missense_variant,p.Val212Phe,ENST00000346956,;TPO,missense_variant,p.Val141Phe,ENST00000422464,;TPO,missense_variant,p.Val212Phe,ENST00000345913,;TPO,downstream_gene_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	725	113	162	SUCCESS
XIRP2	129446	.	GRCh37	2	168107938	168107938	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	39	99	0	ENST00000409195.1:c.10036T>A	p.Ser3346Thr	p.S3346T	ENST00000409195	NM_152381.5	3346	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS42769.1	10036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTCTGAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Ser3124Thr,ENST00000409273,;XIRP2,missense_variant,p.Ser3346Thr,ENST00000409195,;XIRP2,missense_variant,p.Ser3346Thr,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	10125	99	185	SUCCESS
NFE2L2	4780	.	GRCh37	2	178098803	178098803	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	44	0	ENST00000397062.3:c.242G>C	p.Gly81Ala	p.G81A	ENST00000397062	NM_006164.4	81	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS42782.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCACCTGTC	CODON|p.G81D|c.242G>A|6,CODON|p.G81V|c.242G>T|7,BUFFER|p.E82D|c.246A>C|3,BUFFER|p.E82D|c.246A>T|6,BUFFER|p.E82G|c.245A>G|7,BUFFER|p.E82Q|c.244G>C|6,BUFFER|p.G81C|c.241G>T|3,BUFFER|p.G81S|c.241G>A|3,BUFFER|p.T80R|c.239C>G|3,BUFFER|p.T80K|c.239C>A|5,BUFFER|p.T80P|c.238A>C|6,BUFFER|p.E79K|c.235G>A|10,BUFFER|p.E79Q|c.235G>C|11	.	.	hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3	.	.	ENSP00000380252	.	2/5	.	.	.	.	.	.	.	.	COSM132961,COSM132957	2/5	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,splice_donor_variant,,ENST00000449627,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000423513,;NFE2L2,missense_variant,p.Gly81Ala,ENST00000397062,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000446151,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000588123,;NFE2L2,missense_variant,p.Gly80Ala,ENST00000586532,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000421929,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000464747,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000448782,;NFE2L2,missense_variant,p.Gly65Ala,ENST00000397063,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	797	44	66	SUCCESS
TTN	7273	.	GRCh37	2	179640232	179640232	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs141142920	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	92	0	ENST00000591111.1:c.6359G>T	p.Arg2120Leu	p.R2120L	ENST00000591111		2120	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS59435.1	6359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCGTTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	28/363	.	.	.	.	.	.	.	.	.	28/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg2120Leu,ENST00000360870,;TTN,missense_variant,p.Arg2074Leu,ENST00000359218,;TTN,missense_variant,p.Arg2120Leu,ENST00000342992,;TTN,missense_variant,p.Arg2074Leu,ENST00000342175,;TTN,missense_variant,p.Arg2120Leu,ENST00000589042,;TTN,missense_variant,p.Arg2120Leu,ENST00000591111,;TTN,missense_variant,p.Arg2074Leu,ENST00000460472,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	6584	93	121	SUCCESS
ATIC	471	.	GRCh37	2	216198147	216198147	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	28	117	0	ENST00000236959.9:c.889A>T	p.Thr297Ser	p.T297S	ENST00000236959	NM_004044.6	297	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS2398.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCACACCC	NONE	.	.	Superfamily_domains:SSF53927,SMART_domains:SM00798,PIRSF_domain:PIRSF000414,Pfam_domain:PF01808,Gene3D:3.40.140.20,TIGRFAM_domain:TIGR00355,hmmpanther:PTHR11692	.	.	ENSP00000236959	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000236959	Transcript	.	.	ENSG00000138363	794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.85)	.	PUR9_HUMAN	ATIC	HGNC	F5GWY2_HUMAN,C9JLK0_HUMAN	.	UPI000000122D	SNV	ATIC,missense_variant,p.Thr297Ser,ENST00000236959,;ATIC,missense_variant,p.Thr296Ser,ENST00000435675,;ATIC,missense_variant,p.Thr238Ser,ENST00000540518,;ATIC,upstream_gene_variant,,ENST00000426233,;ATIC,upstream_gene_variant,,ENST00000446622,;ATIC,3_prime_UTR_variant,,ENST00000443953,;ATIC,3_prime_UTR_variant,,ENST00000427397,;	1215	117	156	SUCCESS
IGFBP5	3488	.	GRCh37	2	217542908	217542908	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	45	150	0	ENST00000233813.4:c.614C>T	p.Ala205Val	p.A205V	ENST00000233813	NM_000599.3	205	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2405.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGCTTTG	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF4,Gene3D:4.10.800.10,Pfam_domain:PF00086,Superfamily_domains:SSF57610,Prints_domain:PR01981	.	.	ENSP00000233813	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000233813	Transcript	.	.	ENSG00000115461	5474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.1)	.	IBP5_HUMAN	IGFBP5	HGNC	.	.	UPI000004E58C	SNV	IGFBP5,missense_variant,p.Ala205Val,ENST00000233813,;IGFBP5,downstream_gene_variant,,ENST00000449583,;IGFBP5,downstream_gene_variant,,ENST00000486341,;	1364	150	213	SUCCESS
STK11IP	114790	.	GRCh37	2	220466724	220466724	+	synonymous_variant	Silent	SNP	C	C	T	rs760202216	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	26	0	ENST00000295641.10:c.390C>T	p.Pro130=	p.P130=	ENST00000295641	NM_052902.2	130	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS46521.1	390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCCTCCA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR15454:SF16,hmmpanther:PTHR15454	.	.	ENSP00000295641	.	5/25	.	.	.	.	.	.	.	.	rs760202216	5/25	PASS	ENST00000295641	Transcript	.	.	ENSG00000144589	19184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S11IP_HUMAN	STK11IP	HGNC	C9JQV3_HUMAN	.	UPI0001AE7798	SNV	STK11IP,synonymous_variant,p.%3D,ENST00000456909,;STK11IP,synonymous_variant,p.%3D,ENST00000295641,;STK11IP,non_coding_transcript_exon_variant,,ENST00000468584,;STK11IP,non_coding_transcript_exon_variant,,ENST00000459692,;STK11IP,3_prime_UTR_variant,,ENST00000456857,;STK11IP,non_coding_transcript_exon_variant,,ENST00000475396,;STK11IP,upstream_gene_variant,,ENST00000466648,;STK11IP,upstream_gene_variant,,ENST00000465230,;STK11IP,downstream_gene_variant,,ENST00000475843,;	433	26	54	SUCCESS
PER2	8864	.	GRCh37	2	239184515	239184515	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	66	0	ENST00000254657.3:c.317A>T	p.Asp106Val	p.D106V	ENST00000254657	NM_022817.2	106	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS2528.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGTCCACT	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	.	.	ENSP00000254657	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,missense_variant,p.Asp106Val,ENST00000431832,;PER2,missense_variant,p.Asp106Val,ENST00000355768,;PER2,missense_variant,p.Asp106Val,ENST00000254658,;PER2,missense_variant,p.Asp106Val,ENST00000440245,;PER2,missense_variant,p.Asp106Val,ENST00000254657,;	597	66	91	SUCCESS
HADHB	3032	.	GRCh37	2	26502123	26502123	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	50	0	ENST00000317799.5:c.751C>G	p.Leu251Val	p.L251V	ENST00000317799	NM_000183.2	251	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS1722.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTCTAGCC	NONE	.	.	Superfamily_domains:SSF53901,Pfam_domain:PF00108,TIGRFAM_domain:TIGR01930,Gene3D:3.40.47.10,hmmpanther:PTHR18919:SF5,hmmpanther:PTHR18919	.	.	ENSP00000325136	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000317799	Transcript	.	.	ENSG00000138029	4803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.626)	.	deleterious(0.04)	.	ECHB_HUMAN	HADHB	HGNC	C9K0M0_HUMAN,C9JEY0_HUMAN,C9JE81_HUMAN	.	UPI0000129B6F	SNV	HADHB,missense_variant,p.Leu229Val,ENST00000545822,;HADHB,missense_variant,p.Leu236Val,ENST00000537713,;HADHB,missense_variant,p.Leu251Val,ENST00000317799,;HADHB,intron_variant,,ENST00000405867,;HADHB,downstream_gene_variant,,ENST00000425035,;HADHB,downstream_gene_variant,,ENST00000448743,;HADHB,non_coding_transcript_exon_variant,,ENST00000494615,;	855	50	73	SUCCESS
SIX3	6496	.	GRCh37	2	45169240	45169240	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	502	115	510	0	ENST00000260653.3:c.-4G>A		p.*2*	ENST00000260653	NM_005413.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1821.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGTCCAT	NONE	.	.	.	.	.	ENSP00000260653	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000260653	Transcript	.	.	ENSG00000138083	10889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX3_HUMAN	SIX3	HGNC	Q9NSJ2_HUMAN,A0PJI2_HUMAN	.	UPI00001359C4	SNV	SIX3,5_prime_UTR_variant,,ENST00000260653,;RP11-89K21.1,upstream_gene_variant,,ENST00000444871,;RP11-89K21.1,upstream_gene_variant,,ENST00000437916,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;	339	510	617	SUCCESS
PLA1A	51365	.	GRCh37	3	119328406	119328406	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	68	0	ENST00000273371.4:c.545A>T	p.Gln182Leu	p.Q182L	ENST00000273371	NM_015900.3	182	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS2991.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCAGCTGG	NONE	.	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF86	.	.	ENSP00000273371	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000273371	Transcript	.	.	ENSG00000144837	17661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	tolerated(0.06)	.	PLA1A_HUMAN	PLA1A	HGNC	.	.	UPI0000073F97	SNV	PLA1A,missense_variant,p.Gln9Leu,ENST00000488919,;PLA1A,missense_variant,p.Gln48Leu,ENST00000475963,;PLA1A,missense_variant,p.Gln166Leu,ENST00000494440,;PLA1A,missense_variant,p.Gln182Leu,ENST00000273371,;PLA1A,missense_variant,p.Gln166Leu,ENST00000495992,;PLA1A,downstream_gene_variant,,ENST00000472126,;	617	68	84	SUCCESS
SLC2A2	6514	.	GRCh37	3	170732356	170732356	+	synonymous_variant	Silent	SNP	T	T	C	rs1163149975	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	92	0	ENST00000314251.3:c.273A>G	p.Gln91=	p.Q91=	ENST00000314251	NM_001278659.1	91	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS3215.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAGTTGAGC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879	.	.	ENSP00000323568	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,synonymous_variant,p.%3D,ENST00000314251,;SLC2A2,intron_variant,,ENST00000461867,;SLC2A2,intron_variant,,ENST00000382808,;SLC2A2,synonymous_variant,p.%3D,ENST00000497642,;SLC2A2,intron_variant,,ENST00000469787,;	353	92	109	SUCCESS
LRRN1	57633	.	GRCh37	3	3887129	3887129	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	20	107	0	ENST00000319331.3:c.804A>C	p.Leu268Phe	p.L268F	ENST00000319331	NM_020873.5	268	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS33685.1	804	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTAGACCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF97,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000314901	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319331	Transcript	.	.	ENSG00000175928	20980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRRN1_HUMAN	LRRN1	HGNC	.	.	UPI0000034CB8	SNV	LRRN1,missense_variant,p.Leu268Phe,ENST00000319331,;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;	1565	107	138	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs28931588	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	141	0	ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2694.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGACTCT	SITE|p.D32Y|c.94G>T|138,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5661,COSM5668,COSM5672	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.992)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Tyr,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	374	141	142	SUCCESS
LAMB2	3913	.	GRCh37	3	49162791	49162814	+	inframe_deletion	In_Frame_Del	DEL	GGGAATCCCCACTGGCCACGCTGG	GGGAATCCCCACTGGCCACGCTGG	-	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	GGGAATCCCCACTGGCCACGCTGG	GGGAATCCCCACTGGCCACGCTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	160	24	134	0	ENST00000305544.4:c.2592_2615del	p.Gln865_Pro872del	p.Q865_P872del	ENST00000305544		864	tgCCAGCGTGGCCAGTGGGGATTCCCt/tgt	0	.	.	.	.	.	-	CQRGQWGFP/C	protein_coding	YES	CCDS2789.1	2592-2615	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF36,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000388325	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	deletion	LAMB2,inframe_deletion,p.Gln865_Pro872del,ENST00000305544,;LAMB2,inframe_deletion,p.Gln865_Pro872del,ENST00000418109,;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000453664,;USP19,upstream_gene_variant,,ENST00000434032,;USP19,upstream_gene_variant,,ENST00000398888,;USP19,upstream_gene_variant,,ENST00000306026,;LAMB2,non_coding_transcript_exon_variant,,ENST00000464891,;LAMB2,intron_variant,,ENST00000486298,;USP19,upstream_gene_variant,,ENST00000488993,;USP19,upstream_gene_variant,,ENST00000491859,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,non_coding_transcript_exon_variant,,ENST00000462930,;LAMB2,non_coding_transcript_exon_variant,,ENST00000477701,;LAMB2,non_coding_transcript_exon_variant,,ENST00000483057,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,downstream_gene_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,downstream_gene_variant,,ENST00000493571,;	2757-2780	134	184	SUCCESS
TMEM110	0	.	GRCh37	3	52889459	52889459	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	69	1	ENST00000355083.5:c.162C>T		p.X54_splice	ENST00000355083	NM_198563.2	54	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2866.1	162	MUTECT|SOMATICSNIPER|VARSCANS	.	CGTTTGACTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31735,hmmpanther:PTHR31735:SF2	.	.	ENSP00000347195	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000355083	Transcript	.	.	ENSG00000213533	30526	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM110_HUMAN	TMEM110	HGNC	.	.	UPI000000DB9A	SNV	TMEM110,synonymous_variant,p.%3D,ENST00000355083,;TMEM110-MUSTN1,synonymous_variant,p.%3D,ENST00000504329,;TMEM110,upstream_gene_variant,,ENST00000485356,;TMEM110,splice_region_variant,,ENST00000467979,;	308	70	88	SUCCESS
FAM208A	0	.	GRCh37	3	56705673	56705673	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	51	0	ENST00000493960.2:c.525G>T	p.Lys175Asn	p.K175N	ENST00000493960	NM_001112736.1	175	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS46853.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCTTATC	NONE	.	.	Pfam_domain:PF12509,hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207	.	.	ENSP00000417509	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,missense_variant,p.Lys175Asn,ENST00000355628,;FAM208A,missense_variant,p.Lys175Asn,ENST00000493960,;FAM208A,upstream_gene_variant,,ENST00000478052,;FAM208A,non_coding_transcript_exon_variant,,ENST00000477406,;	536	51	105	SUCCESS
RHOH	399	.	GRCh37	4	40244918	40244918	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	47	0	ENST00000381799.5:c.-89C>G		p.*30*	ENST00000381799	NM_004310.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3458.1	.	MUTECT|MUSE	.	ATTCCCCTTGC	NONE	.	.	.	.	.	ENSP00000371219	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381799	Transcript	1	.	ENSG00000168421	686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHOH_HUMAN	RHOH	HGNC	Q6ICP4_HUMAN,D6RG23_HUMAN,D6RA52_HUMAN	.	UPI0000133892	SNV	RHOH,5_prime_UTR_variant,,ENST00000503941,;RHOH,5_prime_UTR_variant,,ENST00000508513,;RHOH,5_prime_UTR_variant,,ENST00000505618,;RHOH,5_prime_UTR_variant,,ENST00000381799,;RHOH,5_prime_UTR_variant,,ENST00000507851,;RHOH,5_prime_UTR_variant,,ENST00000511121,;RHOH,non_coding_transcript_exon_variant,,ENST00000515718,;RHOH,downstream_gene_variant,,ENST00000504638,;RHOH,downstream_gene_variant,,ENST00000515503,;RHOH,downstream_gene_variant,,ENST00000515702,;RHOH,downstream_gene_variant,,ENST00000511967,;RHOH,downstream_gene_variant,,ENST00000503754,;RHOH,downstream_gene_variant,,ENST00000513894,;RHOH,downstream_gene_variant,,ENST00000503978,;	636	47	52	SUCCESS
PRKG2	5593	.	GRCh37	4	82073196	82073196	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	56	0	ENST00000264399.1:c.1003C>T	p.Gln335Ter	p.Q335*	ENST00000264399	NM_006259.1	335	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS3589.1	1003	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGTGTTA	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,Pfam_domain:PF00027,Gene3D:2.60.120.10,PIRSF_domain:PIRSF000559,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00104	.	.	ENSP00000378945	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000395578	Transcript	.	.	ENSG00000138669	9416	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KGP2_HUMAN	PRKG2	HGNC	B7ZA25_HUMAN	.	UPI000012DDC6	SNV	PRKG2,stop_gained,p.Gln335Ter,ENST00000418486,;PRKG2,stop_gained,p.Gln335Ter,ENST00000395578,;PRKG2,stop_gained,p.Gln335Ter,ENST00000264399,;PRKG2,5_prime_UTR_variant,,ENST00000545647,;PRKG2,non_coding_transcript_exon_variant,,ENST00000456882,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509474,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509169,;	1120	56	76	SUCCESS
CPZ	8532	.	GRCh37	4	8605798	8605798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	43	0	ENST00000360986.4:c.592A>T	p.Arg198Trp	p.R198W	ENST00000360986	NM_001014447.2	198	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33953.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGAGGCGG	NONE	.	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	.	.	ENSP00000354255	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000360986	Transcript	.	.	ENSG00000109625	2333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.01)	.	CBPZ_HUMAN	CPZ	HGNC	.	.	UPI000020BCC5	SNV	CPZ,missense_variant,p.Arg198Trp,ENST00000360986,;CPZ,missense_variant,p.Arg187Trp,ENST00000315782,;CPZ,missense_variant,p.Arg61Trp,ENST00000382480,;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000504070,;CPZ,downstream_gene_variant,,ENST00000506287,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;CPZ,downstream_gene_variant,,ENST00000514875,;	766	43	74	SUCCESS
TIGD2	166815	.	GRCh37	4	90033977	90033977	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	13	0	ENST00000317005.2:c.-149A>C		p.*50*	ENST00000317005	NM_145715.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3633.1	.	MUTECT|MUSE	.	CACGTAGACCT	NONE	.	.	.	.	.	ENSP00000317170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317005	Transcript	.	.	ENSG00000180346	18333	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIGD2_HUMAN	TIGD2	HGNC	.	.	UPI000013FF3C	SNV	TIGD2,5_prime_UTR_variant,,ENST00000317005,;RP11-84C13.1,downstream_gene_variant,,ENST00000603357,;FAM13A,upstream_gene_variant,,ENST00000502459,;	10	13	28	SUCCESS
PCDHA13	56136	.	GRCh37	5	140263516	140263516	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	38	0	ENST00000289272.2:c.1663G>A	p.Val555Met	p.V555M	ENST00000289272	NM_018904.2	555	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS4240.1	1663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCGTGCTG	CODON|p.F554F|c.1662C>T|3,BUFFER|p.D557D|c.1671C>T|3	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	COSM3409857	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	1	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Val555Met,ENST00000289272,;PCDHA13,missense_variant,p.Val555Met,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	1663	38	79	SUCCESS
FTH1P10	2502	.	GRCh37	5	17354671	17354671	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	19	0	ENST00000401830.3:n.63C>A		p.*21*	ENST00000401830				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GTGGGGGACGA	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000511821	Transcript	.	.	ENSG00000248223	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CTD-2139B15.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2139B15.2,non_coding_transcript_exon_variant,,ENST00000511821,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000401830,;FTH1P10,upstream_gene_variant,,ENST00000430907,;	530	19	38	SUCCESS
BDP1	55814	.	GRCh37	5	70805742	70805742	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	36	156	0	ENST00000358731.4:c.2823A>T	p.Lys941Asn	p.K941N	ENST00000358731	NM_018429.2	941	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS43328.1	2823	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAAAATGG	NONE	.	.	hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929	.	.	ENSP00000351575	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000358731	Transcript	.	.	ENSG00000145734	13652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	deleterious(0.02)	.	BDP1_HUMAN	BDP1	HGNC	.	.	UPI000020CA90	SNV	BDP1,missense_variant,p.Lys941Asn,ENST00000358731,;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;	3086	156	194	SUCCESS
LAMA4	3910	.	GRCh37	6	112430681	112430681	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	63	0	ENST00000230538.7:c.5431G>A	p.Val1811Ile	p.V1811I	ENST00000230538	NM_001105206.2	1811	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS43491.1	5431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACCAGGG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF174,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000230538	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000230538	Transcript	.	.	ENSG00000112769	6484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	LAMA4_HUMAN	LAMA4	HGNC	E5RK79_HUMAN,E5RHF3_HUMAN,E5RFQ2_HUMAN,E5RFD7_HUMAN	.	UPI000013C937	SNV	LAMA4,missense_variant,p.Val1811Ile,ENST00000230538,;LAMA4,missense_variant,p.Val1804Ile,ENST00000424408,;LAMA4,missense_variant,p.Val1804Ile,ENST00000522006,;LAMA4,missense_variant,p.Val1804Ile,ENST00000389463,;	5829	63	78	SUCCESS
PLEKHG1	57480	.	GRCh37	6	151130378	151130378	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	59	0	ENST00000358517.2:c.1050C>G	p.Ile350Met	p.I350M	ENST00000358517		350	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS34552.1	1050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCACGAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF90,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000356297	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000367328	Transcript	.	.	ENSG00000120278	20884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.194)	.	deleterious(0)	.	PKHG1_HUMAN	PLEKHG1	HGNC	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN	.	UPI000015FC80	SNV	PLEKHG1,missense_variant,p.Ile350Met,ENST00000367328,;PLEKHG1,missense_variant,p.Ile350Met,ENST00000358517,;PLEKHG1,missense_variant,p.Ile197Met,ENST00000475490,;	1362	59	59	SUCCESS
CCDC170	80129	.	GRCh37	6	151907029	151907029	+	synonymous_variant	Silent	SNP	C	C	A	rs939373567	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	12	79	0	ENST00000239374.7:c.1098C>A	p.Val366=	p.V366=	ENST00000239374	NM_025059.3	366	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43515.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCTCCCA	NONE	.	.	hmmpanther:PTHR18863,hmmpanther:PTHR18863:SF4	.	.	ENSP00000239374	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000239374	Transcript	.	.	ENSG00000120262	21177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC170_HUMAN	CCDC170	HGNC	.	.	UPI000020D0BA	SNV	CCDC170,synonymous_variant,p.%3D,ENST00000239374,;CCDC170,synonymous_variant,p.%3D,ENST00000367290,;	1197	79	67	SUCCESS
GMPR	2766	.	GRCh37	6	16238870	16238870	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	16	0	ENST00000259727.4:c.-55G>A		p.*19*	ENST00000259727	NM_006877.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4537.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCGCGCAG	NONE	.	.	.	.	.	ENSP00000259727	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000259727	Transcript	.	.	ENSG00000137198	4376	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GMPR1_HUMAN	GMPR	HGNC	.	.	UPI000012B8B2	SNV	GMPR,5_prime_UTR_variant,,ENST00000259727,;	60	16	45	SUCCESS
LRRC16A	0	.	GRCh37	6	25420378	25420378	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs79463028	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	69	0	ENST00000329474.6:c.175C>T	p.Arg59Ter	p.R59*	ENST00000329474	NM_001173977.1	59	Cga/Tga	0	T:0.0002	A:0	.	A:0	.	T	R/*	protein_coding	YES	CCDS54973.1	175	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGCGAATC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39	A:0	T:0	ENSP00000331983	A:0	3/37	.	.	.	.	.	.	.	.	rs79463028,COSM150060	3/37	PASS	ENST00000329474	Transcript	.	A:0.0012	ENSG00000079691	21581	.	.	HIGH	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0.0061	.	0,1	LR16A_HUMAN	LRRC16A	HGNC	.	.	UPI00004588AB	SNV	LRRC16A,stop_gained,p.Arg59Ter,ENST00000329474,;LRRC16A,5_prime_UTR_variant,,ENST00000377969,;LRRC16A,non_coding_transcript_exon_variant,,ENST00000461945,;	543	69	94	SUCCESS
OR11A1	26531	.	GRCh37	6	29395427	29395427	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	9	50	0	ENST00000377147.2:c.-9A>G		p.*3*	ENST00000377147	NM_013937.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34363.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATCGTCCAAG	NONE	.	.	.	.	.	ENSP00000366354	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377149	Transcript	.	.	ENSG00000204694	8176	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O11A1_HUMAN	OR11A1	HGNC	.	.	UPI000000DCA8	SNV	OR11A1,5_prime_UTR_variant,,ENST00000377149,;OR11A1,5_prime_UTR_variant,,ENST00000377148,;OR11A1,5_prime_UTR_variant,,ENST00000377147,;OR5V1,intron_variant,,ENST00000377154,;	465	50	98	SUCCESS
CMTR1	23070	.	GRCh37	6	37414111	37414111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	35	106	0	ENST00000373451.4:c.330C>A	p.Ser110Arg	p.S110R	ENST00000373451	NM_015050.2	110	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS4835.1	330	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCCAGGG	NONE	.	.	SMART_domains:SM00443,Pfam_domain:PF01585,hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121,PROSITE_profiles:PS50174	.	.	ENSP00000362550	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000373451	Transcript	.	.	ENSG00000137200	21077	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.175)	.	tolerated(0.06)	.	CMTR1_HUMAN	CMTR1	HGNC	.	.	UPI00000700C2	SNV	CMTR1,missense_variant,p.Ser110Arg,ENST00000373451,;CMTR1,missense_variant,p.Ser110Arg,ENST00000455891,;CMTR1,downstream_gene_variant,,ENST00000471097,;	494	106	200	SUCCESS
NRCAM	4897	.	GRCh37	7	107875094	107875094	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	23	65	0	ENST00000379028.3:c.163G>C	p.Asp55His	p.D55H	ENST00000379028		55	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS47686.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATCTTTTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000368314	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000379028	Transcript	.	.	ENSG00000091129	7994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	NRCAM_HUMAN	NRCAM	HGNC	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN	.	UPI00005E2661	SNV	NRCAM,missense_variant,p.Asp55His,ENST00000379022,;NRCAM,missense_variant,p.Asp49His,ENST00000351718,;NRCAM,missense_variant,p.Asp49His,ENST00000417701,;NRCAM,missense_variant,p.Asp55His,ENST00000418239,;NRCAM,missense_variant,p.Asp49His,ENST00000419936,;NRCAM,missense_variant,p.Asp55His,ENST00000413765,;NRCAM,missense_variant,p.Asp49His,ENST00000456431,;NRCAM,missense_variant,p.Asp55His,ENST00000379024,;NRCAM,missense_variant,p.Asp55His,ENST00000379028,;NRCAM,missense_variant,p.Asp55His,ENST00000425651,;NRCAM,missense_variant,p.Asp55His,ENST00000442580,;	634	65	101	SUCCESS
CPED1	79974	.	GRCh37	7	120655805	120655805	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	43	159	1	ENST00000310396.5:c.336T>C	p.Leu112=	p.L112=	ENST00000310396	NM_024913.4	112	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS34739.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTTCAGCT	NONE	.	.	hmmpanther:PTHR14776	.	.	ENSP00000309772	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000310396	Transcript	.	.	ENSG00000106034	26159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPED1_HUMAN	CPED1	HGNC	Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN	.	UPI000013C813	SNV	CPED1,synonymous_variant,p.%3D,ENST00000340646,;CPED1,synonymous_variant,p.%3D,ENST00000450913,;CPED1,synonymous_variant,p.%3D,ENST00000428526,;CPED1,synonymous_variant,p.%3D,ENST00000310396,;CPED1,non_coding_transcript_exon_variant,,ENST00000495036,;CPED1,non_coding_transcript_exon_variant,,ENST00000521774,;CPED1,intron_variant,,ENST00000520801,;	803	160	222	SUCCESS
AMPH	273	.	GRCh37	7	38500941	38500941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	10	98	0	ENST00000356264.2:c.959T>A	p.Ile320Asn	p.I320N	ENST00000356264	NM_001635.3	320	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS5456.1	959	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGATGTTC	NONE	.	.	hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23	.	.	ENSP00000348602	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Ile320Asn,ENST00000356264,;AMPH,missense_variant,p.Ile320Asn,ENST00000428293,;AMPH,missense_variant,p.Ile71Asn,ENST00000441628,;AMPH,missense_variant,p.Ile320Asn,ENST00000325590,;	1175	98	117	SUCCESS
TNS3	64759	.	GRCh37	7	47451383	47451383	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	22	94	0	ENST00000311160.9:c.665del	p.Asn222ThrfsTer15	p.N222Tfs*15	ENST00000311160	NM_022748.11	222	aAc/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS5506.2	665	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGGTTTTCT	NONE	.	.	Superfamily_domains:SSF49562,Pfam_domain:PF10409,Gene3D:1d5rA02,hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305,PROSITE_profiles:PS51182	.	.	ENSP00000381854	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	deletion	TNS3,frameshift_variant,p.Asn222ThrfsTer15,ENST00000442536,;TNS3,frameshift_variant,p.Asn222ThrfsTer15,ENST00000398879,;TNS3,frameshift_variant,p.Asn222ThrfsTer15,ENST00000458317,;TNS3,frameshift_variant,p.Asn222ThrfsTer15,ENST00000311160,;TNS3,frameshift_variant,p.Asn325ThrfsTer15,ENST00000457718,;TNS3,frameshift_variant,p.Asn222ThrfsTer15,ENST00000355730,;TNS3,frameshift_variant,p.Asn311ThrfsTer15,ENST00000450444,;	1032	94	140	SUCCESS
SAMD9	54809	.	GRCh37	7	92735147	92735147	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	33	92	0	ENST00000379958.2:c.264G>T	p.Met88Ile	p.M88I	ENST00000379958	NM_017654.3	88	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34680.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCATCTT	NONE	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.18)	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Met88Ile,ENST00000446617,;SAMD9,missense_variant,p.Met88Ile,ENST00000379958,;	534	92	136	SUCCESS
STXBP1	6812	.	GRCh37	9	130420705	130420705	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	50	1	ENST00000373299.1:c.221T>C	p.Val74Ala	p.V74A	ENST00000373299	NM_001032221.3	74	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6874.1	221	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GGCTGTGTATC	NONE	.	.	hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Pfam_domain:PF00995,Gene3D:3.40.50.2060,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000362399	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000373302	Transcript	.	.	ENSG00000136854	11444	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	.	deleterious(0)	.	STXB1_HUMAN	STXBP1	HGNC	.	.	UPI0000006C0B	SNV	STXBP1,missense_variant,p.Val74Ala,ENST00000373302,;STXBP1,missense_variant,p.Val74Ala,ENST00000373299,;STXBP1,upstream_gene_variant,,ENST00000496504,;STXBP1,upstream_gene_variant,,ENST00000495829,;	360	51	50	SUCCESS
DENND4C	55667	.	GRCh37	9	19316642	19316642	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1188202841	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	26	116	0	ENST00000602925.1:c.1612T>G	p.Ser538Ala	p.S538A	ENST00000602925	NM_017925.5	538	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS6491.3	1612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTCAGCG	NONE	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17	.	.	ENSP00000473565	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000602925	Transcript	.	.	ENSG00000137145	26079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	tolerated(0.95)	.	.	DENND4C	HGNC	R4GNB2_HUMAN	.	UPI0000EE421F	SNV	DENND4C,missense_variant,p.Ser302Ala,ENST00000380432,;DENND4C,missense_variant,p.Ser538Ala,ENST00000434457,;DENND4C,missense_variant,p.Ser538Ala,ENST00000602925,;DENND4C,missense_variant,p.Ser311Ala,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	2028	116	152	SUCCESS
NUTM2F	54754	.	GRCh37	9	97084601	97084601	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs376058940	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	63	197	0	ENST00000253262.4:c.724C>T	p.Arg242Ter	p.R242*	ENST00000253262	NM_017561.1	242	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS47994.1	724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCGGAGAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12,Pfam_domain:PF12881	.	A:0.0002	ENSP00000253262	.	3/7	.	.	.	.	.	.	.	.	rs376058940,COSM3375321,COSM3375320	3/7	PASS	ENST00000253262	Transcript	.	.	ENSG00000130950	23450	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	NTM2F_HUMAN	NUTM2F	HGNC	.	.	UPI00001D771D	SNV	NUTM2F,stop_gained,p.Arg242Ter,ENST00000335456,;NUTM2F,stop_gained,p.Arg242Ter,ENST00000341207,;NUTM2F,stop_gained,p.Arg242Ter,ENST00000253262,;	745	197	288	SUCCESS
GRIA3	2892	.	GRCh37	X	122387320	122387320	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	61	0	ENST00000541091.1:c.387G>A	p.Leu129=	p.L129=	ENST00000541091		129	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14604.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGAAGGG	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,synonymous_variant,p.%3D,ENST00000371256,;GRIA3,synonymous_variant,p.%3D,ENST00000542149,;GRIA3,synonymous_variant,p.%3D,ENST00000264357,;GRIA3,synonymous_variant,p.%3D,ENST00000541091,;GRIA3,synonymous_variant,p.%3D,ENST00000371251,;GRIA3,non_coding_transcript_exon_variant,,ENST00000479118,;	727	61	60	SUCCESS
IDS	3423	.	GRCh37	X	148564375	148564375	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	41	165	1	ENST00000340855.6:c.1555G>A	p.Ala519Thr	p.A519T	ENST00000340855	NM_001166550.1	519	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCATGGA	NONE	.	.	hmmpanther:PTHR10342:SF185,hmmpanther:PTHR10342,Superfamily_domains:SSF53649	.	.	ENSP00000477056	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000422081	Transcript	.	.	ENSG00000241489	5389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.817)	.	deleterious(0.03)	.	.	IDS	Uniprot_gn	B4DIX1_HUMAN,B3KWA1_HUMAN	.	UPI0000EE78A2	SNV	IDS,missense_variant,p.Ala308Thr,ENST00000541269,;IDS,missense_variant,p.Ala308Thr,ENST00000422081,;IDS,missense_variant,p.Ala122Thr,ENST00000537071,;IDS,missense_variant,p.Ala519Thr,ENST00000340855,;IDS,downstream_gene_variant,,ENST00000370441,;IDS,downstream_gene_variant,,ENST00000490775,;IDS,downstream_gene_variant,,ENST00000441880,;IDS,downstream_gene_variant,,ENST00000464251,;IDS,downstream_gene_variant,,ENST00000466323,;	2334	166	186	SUCCESS
POLA1	5422	.	GRCh37	X	24752010	24752010	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	87	290	1	ENST00000379059.3:c.1815+77A>T		p.*605*	ENST00000379059	NM_016937.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14214.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AGAAAAAAGGT	NONE	.	.	.	.	.	ENSP00000368349	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379059	Transcript	.	.	ENSG00000101868	9173	.	.	MODIFIER	17/36	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPOLA_HUMAN	POLA1	HGNC	.	.	UPI000014D383	SNV	POLA1,intron_variant,,ENST00000379059,;POLA1,intron_variant,,ENST00000379068,;POLA1,non_coding_transcript_exon_variant,,ENST00000493342,;	.	292	305	SUCCESS
MAGEE1	57692	.	GRCh37	X	75649655	75649655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	57	0	ENST00000361470.2:c.1332C>A	p.Asp444Glu	p.D444E	ENST00000361470	NM_020932.2	444	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS14433.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACTCAGA	NONE	.	.	hmmpanther:PTHR11736:SF9,hmmpanther:PTHR11736	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.773)	.	tolerated(0.17)	.	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,missense_variant,p.Asp444Glu,ENST00000361470,;	1610	57	76	SUCCESS
PCDH15	65217	.	GRCh37	10	55955639	55955639	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	108	0	ENST00000320301.6:c.1109A>T	p.Asp370Val	p.D370V	ENST00000320301	NM_033056.3	370	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS44404.1	1109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTCTTGT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.26)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Asp370Val,ENST00000437009,;PCDH15,missense_variant,p.Asp348Val,ENST00000395433,;PCDH15,missense_variant,p.Asp370Val,ENST00000395445,;PCDH15,missense_variant,p.Asp370Val,ENST00000320301,;PCDH15,missense_variant,p.Asp333Val,ENST00000395432,;PCDH15,missense_variant,p.Asp370Val,ENST00000373955,;PCDH15,missense_variant,p.Asp348Val,ENST00000373957,;PCDH15,missense_variant,p.Asp370Val,ENST00000395440,;PCDH15,missense_variant,p.Asp370Val,ENST00000361849,;PCDH15,missense_variant,p.Asp370Val,ENST00000395438,;PCDH15,missense_variant,p.Asp370Val,ENST00000395446,;PCDH15,missense_variant,p.Asp375Val,ENST00000414778,;PCDH15,missense_variant,p.Asp370Val,ENST00000373965,;PCDH15,missense_variant,p.Asp370Val,ENST00000395430,;PCDH15,5_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Asp370Val,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	1504	108	95	SUCCESS
IFIT2	3433	.	GRCh37	10	91066641	91066657	+	protein_altering_variant	In_Frame_Del	DEL	AGAAAGTTACTGGAACT	AGAAAGTTACTGGAACT	CG	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	AGAAAGTTACTGGAACT	AGAAAGTTACTGGAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	114	0	ENST00000371826.3:c.928_944delinsCG	p.Lys311_Leu315del	p.K311_L315del	ENST00000371826	NM_001547.4	310	AGAAAGTTACTGGAACTa/CGa	0	.	.	.	.	.	CG	RKLLEL/R	protein_coding	YES	CCDS41548.1	928-944	INDELOCATOR*|PINDEL	.	GGGAAAAGAAAGTTACTGGAACTAATAG	NONE	.	.	hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10	.	.	ENSP00000360891	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371826	Transcript	.	.	ENSG00000119922	5409	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFIT2_HUMAN	IFIT2	HGNC	.	.	UPI000012D3E4	substitution	IFIT2,protein_altering_variant,p.Lys311_Leu315del,ENST00000371826,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	1097-1113	114	86	SUCCESS
IFIT2	3433	.	GRCh37	10	91066657	91066657	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	111	0	ENST00000371826.3:c.944T>G	p.Leu315Arg	p.L315R	ENST00000371826	NM_001547.4	315	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS41548.1	944	SOMATICSNIPER|VARSCANS	.	GGAACTAATAG	NONE	.	.	hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10	.	.	ENSP00000360891	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371826	Transcript	.	.	ENSG00000119922	5409	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.729)	.	deleterious(0)	.	IFIT2_HUMAN	IFIT2	HGNC	.	.	UPI000012D3E4	SNV	IFIT2,missense_variant,p.Leu315Arg,ENST00000371826,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	1113	111	74	SUCCESS
CASP1	834	.	GRCh37	11	104897575	104897575	+	synonymous_variant	Silent	SNP	G	G	A	rs763558180	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	31	0	ENST00000436863.3:c.1110C>T	p.Phe370=	p.F370=	ENST00000436863	NM_033292.3	370	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS8330.1	1110	MUTECT|MUSE	.	TTGCGGAAAAT	NONE	.	.	PROSITE_profiles:PS50207,hmmpanther:PTHR10454:SF34,hmmpanther:PTHR10454,Gene3D:2dkoB00,Pfam_domain:PF00656,SMART_domains:SM00115,PIRSF_domain:PIRSF038001,Superfamily_domains:SSF52129	.	.	ENSP00000433138	.	8/9	.	.	.	.	.	.	.	.	rs763558180	8/9	PASS	ENST00000533400	Transcript	.	.	ENSG00000137752	1499	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CASP1_HUMAN	CASP1	HGNC	.	.	UPI000003AEF8	SNV	CASP1,synonymous_variant,p.%3D,ENST00000415981,;CASP1,synonymous_variant,p.%3D,ENST00000436863,;CASP1,synonymous_variant,p.%3D,ENST00000393136,;CASP1,synonymous_variant,p.%3D,ENST00000353247,;CASP1,synonymous_variant,p.%3D,ENST00000527979,;CASP1,synonymous_variant,p.%3D,ENST00000446369,;CASP1,synonymous_variant,p.%3D,ENST00000593315,;CASP1,synonymous_variant,p.%3D,ENST00000533400,;CASP1,synonymous_variant,p.%3D,ENST00000532439,;CASP1,synonymous_variant,p.%3D,ENST00000531166,;CASP1,synonymous_variant,p.%3D,ENST00000598974,;CASP1,synonymous_variant,p.%3D,ENST00000525825,;CASP1,synonymous_variant,p.%3D,ENST00000526568,;CASP1,synonymous_variant,p.%3D,ENST00000534497,;CASP1,synonymous_variant,p.%3D,ENST00000594519,;CASP1,3_prime_UTR_variant,,ENST00000528974,;CASP5,upstream_gene_variant,,ENST00000456094,;CASP5,upstream_gene_variant,,ENST00000444749,;CASP5,upstream_gene_variant,,ENST00000260315,;CASP5,upstream_gene_variant,,ENST00000531367,;CASP5,upstream_gene_variant,,ENST00000418434,;CASP5,upstream_gene_variant,,ENST00000393139,;CASP5,upstream_gene_variant,,ENST00000393141,;CASP5,upstream_gene_variant,,ENST00000526056,;CASP1,3_prime_UTR_variant,,ENST00000529871,;CASP1,non_coding_transcript_exon_variant,,ENST00000527625,;CASP1,downstream_gene_variant,,ENST00000532520,;CASP5,upstream_gene_variant,,ENST00000456200,;CASP1,downstream_gene_variant,,ENST00000528424,;CASP1,downstream_gene_variant,,ENST00000526511,;	1146	31	58	SUCCESS
PRDM10	56980	.	GRCh37	11	129814881	129814881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	124	274	0	ENST00000358825.5:c.547G>T	p.Ala183Ser	p.A183S	ENST00000358825	NM_020228.2	183	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS44771.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCATGCG	NONE	.	.	hmmpanther:PTHR11389:SF415,hmmpanther:PTHR11389	.	.	ENSP00000351686	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000358825	Transcript	.	.	ENSG00000170325	13995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.81)	.	PRD10_HUMAN	PRDM10	HGNC	.	.	UPI00002371B3	SNV	PRDM10,missense_variant,p.Ala157Ser,ENST00000528746,;PRDM10,missense_variant,p.Ala183Ser,ENST00000360871,;PRDM10,missense_variant,p.Ala97Ser,ENST00000526082,;PRDM10,missense_variant,p.Ala183Ser,ENST00000358825,;PRDM10,missense_variant,p.Ala97Ser,ENST00000304538,;PRDM10,missense_variant,p.Ala97Ser,ENST00000423662,;PRDM10,downstream_gene_variant,,ENST00000527581,;PRDM10,downstream_gene_variant,,ENST00000531431,;PRDM10,upstream_gene_variant,,ENST00000533431,;	779	274	263	SUCCESS
JAM3	83700	.	GRCh37	11	134018672	134018672	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763891551	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	141	236	0	ENST00000299106.4:c.856G>A	p.Gly286Arg	p.G286R	ENST00000299106		286	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS8494.2	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGGGAAA	NONE	.	.	hmmpanther:PTHR12231:SF5,hmmpanther:PTHR12231	.	.	ENSP00000299106	.	8/9	.	.	.	.	.	.	.	.	rs763891551	8/9	PASS	ENST00000299106	Transcript	.	.	ENSG00000166086	15532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	deleterious(0.01)	.	JAM3_HUMAN	JAM3	HGNC	.	.	UPI0000034063	SNV	JAM3,missense_variant,p.Gly235Arg,ENST00000441717,;JAM3,missense_variant,p.Gly331Arg,ENST00000529443,;JAM3,missense_variant,p.Gly286Arg,ENST00000299106,;NCAPD3,downstream_gene_variant,,ENST00000534548,;JAM3,downstream_gene_variant,,ENST00000534549,;JAM3,downstream_gene_variant,,ENST00000524969,;JAM3,downstream_gene_variant,,ENST00000532165,;NCAPD3,downstream_gene_variant,,ENST00000526787,;JAM3,non_coding_transcript_exon_variant,,ENST00000533711,;JAM3,downstream_gene_variant,,ENST00000531302,;JAM3,downstream_gene_variant,,ENST00000532252,;NCAPD3,downstream_gene_variant,,ENST00000525964,;NCAPD3,downstream_gene_variant,,ENST00000534532,;	1015	236	247	SUCCESS
CDKN1C	1028	.	GRCh37	11	2906108	2906108	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	12	0	ENST00000414822.3:c.612G>A	p.Pro204=	p.P204=	ENST00000414822	NM_000076.2	204	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7738.1	612	MUTECT|MUSE	.	GGGGCCGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10265:SF7,hmmpanther:PTHR10265	.	.	ENSP00000413720	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000414822	Transcript	.	.	ENSG00000129757	1786	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDN1C_HUMAN	CDKN1C	HGNC	.	.	UPI0000127442	SNV	CDKN1C,synonymous_variant,p.%3D,ENST00000440480,;CDKN1C,synonymous_variant,p.%3D,ENST00000414822,;CDKN1C,synonymous_variant,p.%3D,ENST00000430149,;CDKN1C,synonymous_variant,p.%3D,ENST00000313407,;CDKN1C,intron_variant,,ENST00000380725,;SLC22A18AS,downstream_gene_variant,,ENST00000533594,;SLC22A18AS,downstream_gene_variant,,ENST00000526203,;SLC22A18AS,downstream_gene_variant,,ENST00000455942,;CDKN1C,upstream_gene_variant,,ENST00000471157,;	1004	12	19	SUCCESS
LMO2	4005	.	GRCh37	11	33891217	33891217	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	39	91	0	ENST00000395833.3:c.-285G>T		p.*95*	ENST00000395833	NM_001142316.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7888.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCCAGGC	NONE	.	.	.	.	.	ENSP00000257818	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257818	Transcript	.	.	ENSG00000135363	6642	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBTN2_HUMAN	LMO2	HGNC	.	.	UPI00001F9F84	SNV	LMO2,5_prime_UTR_variant,,ENST00000395833,;LMO2,intron_variant,,ENST00000257818,;LMO2,intron_variant,,ENST00000493667,;LMO2,non_coding_transcript_exon_variant,,ENST00000465614,;LMO2,upstream_gene_variant,,ENST00000464025,;LMO2,upstream_gene_variant,,ENST00000411482,;	.	91	90	SUCCESS
MS4A8	83661	.	GRCh37	11	60470924	60470924	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	119	0	ENST00000300226.2:c.293A>G	p.Tyr98Cys	p.Y98C	ENST00000300226	NM_031457.1	98	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7990.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATACCTGT	NONE	.	.	hmmpanther:PTHR23320:SF14,hmmpanther:PTHR23320,Pfam_domain:PF04103	.	.	ENSP00000300226	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000300226	Transcript	.	.	ENSG00000166959	13380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	M4A8_HUMAN	MS4A8	HGNC	.	.	UPI0000047F97	SNV	MS4A8,missense_variant,p.Tyr80Cys,ENST00000525458,;MS4A8,missense_variant,p.Tyr98Cys,ENST00000529752,;MS4A8,missense_variant,p.Tyr98Cys,ENST00000300226,;MS4A8,3_prime_UTR_variant,,ENST00000532816,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533354,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533691,;MS4A8,non_coding_transcript_exon_variant,,ENST00000532953,;MS4A8,non_coding_transcript_exon_variant,,ENST00000450141,;MS4A8,downstream_gene_variant,,ENST00000534316,;	496	119	96	SUCCESS
AHNAK	79026	.	GRCh37	11	62285972	62285972	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	159	1	ENST00000378024.4:c.15917T>G	p.Leu5306Trp	p.L5306W	ENST00000378024	NM_001620.2	5306	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS31584.1	15917	RADIA|MUTECT|MUSE	.	CTTTCAAGTTC	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.981)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Leu5306Trp,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	16192	160	110	SUCCESS
AHNAK	79026	.	GRCh37	11	62285997	62285997	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	48	145	1	ENST00000378024.4:c.15892T>A	p.Ser5298Thr	p.S5298T	ENST00000378024	NM_001620.2	5298	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS31584.1	15892	RADIA|MUTECT|MUSE	.	CCCAGAGACTT	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Ser5298Thr,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	16167	146	109	SUCCESS
MAML2	84441	.	GRCh37	11	95712358	95712358	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	64	0	ENST00000524717.1:c.3225C>T	p.Gly1075=	p.G1075=	ENST00000524717	NM_032427.1	1075	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS44714.1	3225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGCCCGT	NONE	.	.	hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9	.	.	ENSP00000434552	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	SNV	MAML2,synonymous_variant,p.%3D,ENST00000524717,;	4510	64	73	SUCCESS
UTP20	27340	.	GRCh37	12	101767198	101767198	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	69	154	1	ENST00000261637.4:c.6898A>G	p.Arg2300Gly	p.R2300G	ENST00000261637	NM_014503.2	2300	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9081.1	6898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGAGAGAG	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	53/62	.	.	.	.	.	.	.	.	.	53/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Arg2300Gly,ENST00000261637,;	7072	155	149	SUCCESS
DYNLL1	8655	.	GRCh37	12	120933949	120933949	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs552461487	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	13	0	ENST00000242577.6:c.-77C>G		p.*26*	ENST00000242577	NM_001037495.1			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS9200.1	.	RADIA|MUTECT|MUSE	.	TATCTCTAGCC	NONE	by1000G	.	.	G:0	.	ENSP00000376297	G:0	.	.	.	.	.	.	.	.	.	rs552461487	.	PASS	ENST00000392509	Transcript	.	G:0.0002	ENSG00000088986	15476	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	3	.	.	.	.	G:0.001	.	.	DYL1_HUMAN	DYNLL1	HGNC	Q6FGH9_HUMAN,F8VXI7_HUMAN	.	UPI0000000991	SNV	DYNLL1,5_prime_UTR_variant,,ENST00000392508,;DYNLL1,5_prime_UTR_variant,,ENST00000549989,;DYNLL1,5_prime_UTR_variant,,ENST00000550845,;DYNLL1,5_prime_UTR_variant,,ENST00000550178,;DYNLL1,5_prime_UTR_variant,,ENST00000242577,;DYNLL1,5_prime_UTR_variant,,ENST00000548214,;DYNLL1,5_prime_UTR_variant,,ENST00000552870,;DYNLL1,intron_variant,,ENST00000392509,;DYNLL1,intron_variant,,ENST00000548342,;DYNLL1,intron_variant,,ENST00000549649,;DYNLL1-AS1,upstream_gene_variant,,ENST00000500741,;DYNLL1,upstream_gene_variant,,ENST00000552316,;	.	13	10	SUCCESS
ARID2	196528	.	GRCh37	12	46230518	46230545	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTGTAGAAGGTACATCAGGAGAATGGAT	TTGTAGAAGGTACATCAGGAGAATGGAT	-	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	TTGTAGAAGGTACATCAGGAGAATGGAT	TTGTAGAAGGTACATCAGGAGAATGGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	100	59	185	0	ENST00000334344.6:c.773-3_797del		p.X258_splice	ENST00000334344	NM_152641.2	258		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31783.1	?-794	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTATTGTAGAAGGTACATCAGGAGAATGGATTTGGG	NONE	.	.	.	.	.	ENSP00000335044	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	3	.	HIGH	7/20	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	deletion	ARID2,splice_acceptor_variant,,ENST00000334344,;ARID2,splice_acceptor_variant,,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000444670,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000480128,;	?-966	185	159	SUCCESS
ARID2	196528	.	GRCh37	12	46243941	46243941	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	65	169	0	ENST00000334344.6:c.2035C>T	p.Gln679Ter	p.Q679*	ENST00000334344	NM_152641.2	679	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS31783.1	2035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACAAACT	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,stop_gained,p.Gln679Ter,ENST00000334344,;ARID2,stop_gained,p.Gln289Ter,ENST00000444670,;ARID2,stop_gained,p.Gln530Ter,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	2207	169	167	SUCCESS
CEP290	80184	.	GRCh37	12	88447463	88447463	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770118869	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	36	0	ENST00000552810.1:c.7095C>A	p.Asn2365Lys	p.N2365K	ENST00000552810	NM_025114.3	2365	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS55858.1	7095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGTTAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879	.	.	ENSP00000448012	.	52/54	.	.	.	.	.	.	.	.	rs770118869	52/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Asn1425Lys,ENST00000397838,;CEP290,missense_variant,p.Asn2367Lys,ENST00000309041,;CEP290,missense_variant,p.Asn2365Lys,ENST00000552810,;CEP290,missense_variant,p.Asn1425Lys,ENST00000547691,;C12orf29,downstream_gene_variant,,ENST00000356891,;RNA5SP364,downstream_gene_variant,,ENST00000516938,;C12orf29,downstream_gene_variant,,ENST00000552121,;C12orf29,downstream_gene_variant,,ENST00000550333,;RP11-474L23.3,downstream_gene_variant,,ENST00000549191,;	7439	36	68	SUCCESS
TM9SF2	9375	.	GRCh37	13	100193842	100193842	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	45	133	0	ENST00000376387.4:c.938T>A	p.Phe313Tyr	p.F313Y	ENST00000376387	NM_004800.2	313	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS9493.1	938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTTCTTAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10766:SF36,hmmpanther:PTHR10766,Pfam_domain:PF02990	.	.	ENSP00000365567	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000376387	Transcript	.	.	ENSG00000125304	11865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	TM9S2_HUMAN	TM9SF2	HGNC	.	.	UPI000013684D	SNV	TM9SF2,missense_variant,p.Phe313Tyr,ENST00000376387,;TM9SF2,non_coding_transcript_exon_variant,,ENST00000466555,;TM9SF2,downstream_gene_variant,,ENST00000463709,;	1128	133	86	SUCCESS
PARP4	143	.	GRCh37	13	25068806	25068806	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145170390	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	81	0	ENST00000381989.3:c.646G>A	p.Glu216Lys	p.E216K	ENST00000381989	NM_006437.3	216	Gaa/Aaa	0	G:0	.	.	.	.	T	E/K	protein_coding	YES	CCDS9307.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCAAAGT	NONE	byCluster	.	.	.	G:0.0001	ENSP00000371419	.	7/34	.	.	.	.	.	.	.	.	rs145170390,COSM3786154	7/34	PASS	ENST00000381989	Transcript	.	.	ENSG00000102699	271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.045)	.	tolerated(0.11)	0,1	PARP4_HUMAN	PARP4	HGNC	.	.	UPI000013C76E	SNV	PARP4,missense_variant,p.Glu216Lys,ENST00000381989,;TPTE2P6,intron_variant,,ENST00000445572,;	752	81	52	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102430961	102430961	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	32	0	ENST00000360184.4:c.-68C>T		p.*23*	ENST00000360184	NM_001376.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9966.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCTTGCT	NONE	.	.	.	.	.	ENSP00000348965	.	1/78	.	.	.	.	.	.	.	.	.	1/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,5_prime_UTR_variant,,ENST00000360184,;RP11-1017G21.3,downstream_gene_variant,,ENST00000556294,;	97	32	30	SUCCESS
IGHV3-35	28432	.	GRCh37	14	106845602	106845602	+	synonymous_variant	Silent	SNP	C	C	A	rs760125665	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	74	0	ENST00000390617.2:c.72G>T	p.Val24=	p.V24=	ENST00000390617		24	gtG/gtT	0	.	.	.	.	.	A	V	IG_V_gene	YES	.	72	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCACCAG	NONE	.	.	hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF80,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000375026	.	2/2	.	.	.	.	.	.	.	.	rs760125665	2/2	PASS	ENST00000390617	Transcript	.	.	ENSG00000211957	5598	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHV3-35	HGNC	.	.	UPI000011AACF	SNV	IGHV3-35,synonymous_variant,p.%3D,ENST00000390617,;IGHV3-36,downstream_gene_variant,,ENST00000520848,;	87	74	67	SUCCESS
KTN1	3895	.	GRCh37	14	56139682	56139682	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	91	161	0	ENST00000395314.3:c.3639A>G	p.Leu1213=	p.L1213=	ENST00000395314	NM_001079521.1	1213	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS41957.1	3639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTAGAAAA	NONE	.	.	hmmpanther:PTHR18864,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000378725	.	39/44	.	.	.	.	.	.	.	.	.	39/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,synonymous_variant,p.%3D,ENST00000554507,;KTN1,synonymous_variant,p.%3D,ENST00000395311,;KTN1,synonymous_variant,p.%3D,ENST00000416613,;KTN1,synonymous_variant,p.%3D,ENST00000395308,;KTN1,synonymous_variant,p.%3D,ENST00000438792,;KTN1,synonymous_variant,p.%3D,ENST00000413890,;KTN1,synonymous_variant,p.%3D,ENST00000395309,;KTN1,synonymous_variant,p.%3D,ENST00000555573,;KTN1,synonymous_variant,p.%3D,ENST00000554294,;KTN1,synonymous_variant,p.%3D,ENST00000395314,;KTN1,downstream_gene_variant,,ENST00000553624,;KTN1,synonymous_variant,p.%3D,ENST00000459737,;KTN1,non_coding_transcript_exon_variant,,ENST00000556631,;KTN1,non_coding_transcript_exon_variant,,ENST00000555506,;KTN1,non_coding_transcript_exon_variant,,ENST00000555172,;KTN1,non_coding_transcript_exon_variant,,ENST00000334975,;KTN1,upstream_gene_variant,,ENST00000554831,;	3707	161	216	SUCCESS
PLEKHH1	57475	.	GRCh37	14	68028676	68028676	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	83	168	0	ENST00000329153.5:c.429G>A	p.Glu143=	p.E143=	ENST00000329153	NM_020715.2	143	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS45128.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAGATGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903	.	.	ENSP00000330278	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000329153	Transcript	.	.	ENSG00000054690	17733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHH1_HUMAN	PLEKHH1	HGNC	B3KWD2_HUMAN	.	UPI00001C1F64	SNV	PLEKHH1,synonymous_variant,p.%3D,ENST00000329153,;	561	168	152	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77493785	77493785	+	synonymous_variant	Silent	SNP	C	C	T	rs765159340	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	32	0	ENST00000238647.3:c.351G>A	p.Gln117=	p.Q117=	ENST00000238647	NM_024496.3	117	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9854.1	351	MUTECT|MUSE	.	TGCTGCTGCTG	BUFFER|p.Q116Q|c.348G>A|7	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF14,hmmpanther:PTHR10816	.	.	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	rs765159340	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,synonymous_variant,p.%3D,ENST00000238647,;	1250	32	33	SUCCESS
NPIPA5	100288332	.	GRCh37	16	15457733	15457733	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs752982027	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	13	0	ENST00000360151.4:c.836A>T	p.Asp279Val	p.D279V	ENST00000360151	NM_001277325.1	279	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS59264.1	836	MUTECT|MUSE	.	TATCATCCGCT	NONE	.	.	hmmpanther:PTHR15438,Pfam_domain:PF06409	.	.	ENSP00000433597	.	8/8	.	.	.	.	.	.	.	.	.	8/8	common_in_exac	ENST00000360151	Transcript	.	.	ENSG00000183793	41980	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	NPIA5_HUMAN	NPIPA5	HGNC	.	.	UPI00001AFA8F	SNV	NPIPA5,missense_variant,p.Asp279Val,ENST00000360151,;NPIPA5,downstream_gene_variant,,ENST00000432570,;NPIPA5,downstream_gene_variant,,ENST00000543801,;NPIPA5,downstream_gene_variant,,ENST00000534094,;	836	13	13	SUCCESS
TBL3	10607	.	GRCh37	16	2026919	2026919	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747822940	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	50	119	0	ENST00000568546.1:c.1397C>T	p.Pro466Leu	p.P466L	ENST00000568546	NM_006453.2	466	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS10453.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCCTATCC	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294	.	.	ENSP00000454836	.	14/22	.	.	.	.	.	.	.	.	rs747822940	14/22	PASS	ENST00000568546	Transcript	.	.	ENSG00000183751	11587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.12)	.	TBL3_HUMAN	TBL3	HGNC	A0JLS5_HUMAN	.	UPI000006F172	SNV	TBL3,missense_variant,p.Pro466Leu,ENST00000568546,;TBL3,missense_variant,p.Pro355Leu,ENST00000332704,;AC005606.1,upstream_gene_variant,,ENST00000598236,;NOXO1,downstream_gene_variant,,ENST00000354249,;NOXO1,downstream_gene_variant,,ENST00000567471,;NOXO1,downstream_gene_variant,,ENST00000566005,;NOXO1,downstream_gene_variant,,ENST00000397280,;NOXO1,downstream_gene_variant,,ENST00000356120,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;TBL3,non_coding_transcript_exon_variant,,ENST00000569792,;TBL3,non_coding_transcript_exon_variant,,ENST00000564171,;TBL3,downstream_gene_variant,,ENST00000561907,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000567615,;NOXO1,downstream_gene_variant,,ENST00000569739,;	1525	119	92	SUCCESS
DOC2A	8448	.	GRCh37	16	30021471	30021471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	48	117	0	ENST00000350119.4:c.73C>A	p.Pro25Thr	p.P25T	ENST00000350119	NM_003586.2	25	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS10666.1	73	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGCCCGG	NONE	.	.	PIRSF_domain:PIRSF036931,hmmpanther:PTHR10024:SF204,hmmpanther:PTHR10024	.	.	ENSP00000340017	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000350119	Transcript	.	.	ENSG00000149927	2985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	DOC2A_HUMAN	DOC2A	HGNC	H3BU41_HUMAN,H3BSH4_HUMAN,H3BNF7_HUMAN	.	UPI000013DBC8	SNV	DOC2A,missense_variant,p.Pro25Thr,ENST00000565273,;DOC2A,missense_variant,p.Pro25Thr,ENST00000563378,;DOC2A,missense_variant,p.Pro25Thr,ENST00000564979,;DOC2A,missense_variant,p.Pro25Thr,ENST00000350119,;DOC2A,missense_variant,p.Pro25Thr,ENST00000564944,;DOC2A,intron_variant,,ENST00000563125,;DOC2A,intron_variant,,ENST00000567332,;DOC2A,intron_variant,,ENST00000574405,;INO80E,downstream_gene_variant,,ENST00000562291,;INO80E,downstream_gene_variant,,ENST00000563197,;INO80E,downstream_gene_variant,,ENST00000304516,;INO80E,downstream_gene_variant,,ENST00000567705,;DOC2A,upstream_gene_variant,,ENST00000564357,;DOC2A,downstream_gene_variant,,ENST00000567824,;DOC2A,downstream_gene_variant,,ENST00000570194,;DOC2A,downstream_gene_variant,,ENST00000564075,;DOC2A,non_coding_transcript_exon_variant,,ENST00000564233,;DOC2A,intron_variant,,ENST00000566456,;DOC2A,intron_variant,,ENST00000561671,;DOC2A,intron_variant,,ENST00000566310,;INO80E,downstream_gene_variant,,ENST00000567987,;INO80E,downstream_gene_variant,,ENST00000569957,;INO80E,downstream_gene_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000567065,;INO80E,downstream_gene_variant,,ENST00000562441,;	264	117	119	SUCCESS
RP11-252A24.2	0	.	GRCh37	16	74378832	74378832	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	37	0	ENST00000429810.2:n.1124A>C		p.*375*	ENST00000429810				0	.	.	.	.	.	G	.	retained_intron	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAATTCTGG	NONE	.	.	.	.	.	.	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000429810	Transcript	.	.	ENSG00000214331	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-252A24.2	Clone_based_vega_gene	.	.	.	SNV	RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000566802,;RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000429810,;RP11-252A24.2,upstream_gene_variant,,ENST00000565724,;RP11-252A24.2,non_coding_transcript_exon_variant,,ENST00000563377,;	1124	37	34	SUCCESS
VPS9D1	9605	.	GRCh37	16	89777150	89777150	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1471800266	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	11	132	0	ENST00000389386.3:c.1102G>T	p.Asp368Tyr	p.D368Y	ENST00000389386	NM_004913.2	368	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS42220.1	1102	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23101:SF25,hmmpanther:PTHR23101	.	.	ENSP00000374037	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000389386	Transcript	.	.	ENSG00000075399	13526	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.808)	.	deleterious(0.01)	.	VP9D1_HUMAN	VPS9D1	HGNC	H3BM58_HUMAN	.	UPI00001FF749	SNV	VPS9D1,missense_variant,p.Asp368Tyr,ENST00000389386,;VPS9D1,missense_variant,p.Asp298Tyr,ENST00000561976,;VPS9D1,upstream_gene_variant,,ENST00000565023,;VPS9D1-AS1,upstream_gene_variant,,ENST00000562866,;VPS9D1,downstream_gene_variant,,ENST00000565452,;VPS9D1,downstream_gene_variant,,ENST00000567379,;VPS9D1,downstream_gene_variant,,ENST00000568691,;VPS9D1,downstream_gene_variant,,ENST00000563798,;	1227	132	113	SUCCESS
C17orf75	64149	.	GRCh37	17	30669031	30669031	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	16	0	ENST00000577809.1:c.128A>G	p.Tyr43Cys	p.Y43C	ENST00000577809	NM_022344.3	43	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS58537.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGATAGCTG	NONE	.	.	hmmpanther:PTHR14416,Pfam_domain:PF15053	.	.	ENSP00000464275	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000577809	Transcript	.	.	ENSG00000108666	30173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	tolerated(0.1)	.	NJMU_HUMAN	C17orf75	HGNC	Q8NI83_HUMAN,K7ERX0_HUMAN,K7EIQ2_HUMAN,K7EII1_HUMAN,J3KRR1_HUMAN	.	UPI00001AE577	SNV	C17orf75,missense_variant,p.Tyr43Cys,ENST00000577809,;C17orf75,missense_variant,p.Tyr43Cys,ENST00000225805,;C17orf75,missense_variant,p.Tyr35Cys,ENST00000583774,;C17orf75,upstream_gene_variant,,ENST00000580558,;C17orf75,upstream_gene_variant,,ENST00000583334,;C17orf75,upstream_gene_variant,,ENST00000581747,;RP11-227G15.3,intron_variant,,ENST00000578389,;RP11-227G15.3,intron_variant,,ENST00000581915,;C17orf75,missense_variant,p.Tyr43Cys,ENST00000583221,;C17orf75,non_coding_transcript_exon_variant,,ENST00000582073,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580485,;C17orf75,non_coding_transcript_exon_variant,,ENST00000580294,;C17orf75,upstream_gene_variant,,ENST00000578215,;OOSP1P2,downstream_gene_variant,,ENST00000579644,;	178	16	15	SUCCESS
SPACA3	124912	.	GRCh37	17	31323984	31323984	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143361724	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	44	93	0	ENST00000269053.3:c.467C>T	p.Pro156Leu	p.P156L	ENST00000269053	NM_173847.3	156	cCg/cTg	0	T:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS11275.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCGAACG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51348,hmmpanther:PTHR11407:SF25,hmmpanther:PTHR11407,Pfam_domain:PF00062,Gene3D:1.10.530.10,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00137	.	T:0.0003	ENSP00000269053	.	3/5	.	.	.	.	.	.	.	.	rs143361724,COSM560321	3/5	PASS	ENST00000269053	Transcript	.	.	ENSG00000141316	16260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.03)	.	tolerated(0.31)	0,1	SACA3_HUMAN	SPACA3	HGNC	.	.	UPI00000361ED	SNV	SPACA3,missense_variant,p.Pro156Leu,ENST00000269053,;SPACA3,missense_variant,p.Pro87Leu,ENST00000580599,;SPACA3,missense_variant,p.Pro53Leu,ENST00000394638,;SPACA3,non_coding_transcript_exon_variant,,ENST00000394637,;SPACA3,downstream_gene_variant,,ENST00000485015,;	537	93	93	SUCCESS
SYNRG	11276	.	GRCh37	17	35913872	35913872	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	37	116	0	ENST00000339208.6:c.1953T>A	p.Ser651=	p.S651=	ENST00000339208	NM_001163544.1	651	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11321.1	1953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGAACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15463	.	.	ENSP00000343610	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000339208	Transcript	.	.	ENSG00000006114	557	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNRG_HUMAN	SYNRG	HGNC	.	.	UPI000013C4EA	SNV	SYNRG,synonymous_variant,p.%3D,ENST00000394378,;SYNRG,synonymous_variant,p.%3D,ENST00000502449,;SYNRG,synonymous_variant,p.%3D,ENST00000591288,;SYNRG,synonymous_variant,p.%3D,ENST00000339208,;SYNRG,synonymous_variant,p.%3D,ENST00000345615,;SYNRG,synonymous_variant,p.%3D,ENST00000585472,;SYNRG,synonymous_variant,p.%3D,ENST00000346661,;SYNRG,non_coding_transcript_exon_variant,,ENST00000588194,;SYNRG,downstream_gene_variant,,ENST00000587040,;SYNRG,non_coding_transcript_exon_variant,,ENST00000421408,;	2094	116	87	SUCCESS
SCPEP1	59342	.	GRCh37	17	55055545	55055545	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs369660855	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	15	0	ENST00000262288.3:c.25C>G	p.Pro9Ala	p.P9A	ENST00000262288	NM_021626.2	9	Ccc/Gcc	0	T:0.0002	.	.	.	.	G	P/A	protein_coding	YES	CCDS11593.1	25	MUTECT|MUSE	.	GCTCTCCCGTC	NONE	byCluster	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	T:0	ENSP00000262288	.	1/13	.	.	.	.	.	.	.	.	rs369660855	1/13	PASS	ENST00000262288	Transcript	.	.	ENSG00000121064	29507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated_low_confidence(0.66)	.	RISC_HUMAN	SCPEP1	HGNC	I3L506_HUMAN	.	UPI0000038BD2	SNV	SCPEP1,missense_variant,p.Pro9Ala,ENST00000572710,;SCPEP1,missense_variant,p.Pro9Ala,ENST00000262288,;SCPEP1,5_prime_UTR_variant,,ENST00000575395,;RP5-1107A17.4,upstream_gene_variant,,ENST00000572877,;SCPEP1,non_coding_transcript_exon_variant,,ENST00000573823,;SCPEP1,non_coding_transcript_exon_variant,,ENST00000571345,;SCPEP1,non_coding_transcript_exon_variant,,ENST00000571898,;SCPEP1,missense_variant,p.Pro9Ala,ENST00000576154,;SCPEP1,missense_variant,p.Pro9Ala,ENST00000575423,;SCPEP1,missense_variant,p.Pro9Ala,ENST00000572591,;	80	15	10	SUCCESS
TP53	7157	.	GRCh37	17	7578177	7578177	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs267605076	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	38	126	0	ENST00000269305.4:c.672G>A		p.X224_splice	ENST00000269305	NM_001126112.2	224	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS11118.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,not_provided	CAGACCTCAGG	SITE|p.E224E|c.672G>A|3,SITE|p.E224E|c.672G>A|9,SITE|p.E224E|c.672G>A|3,SITE|p.E224E|c.672G>A|3,SITE|p.E131E|c.393G>A|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.E224D|c.672G>C|3,CODON|p.E224D|c.672G>C|8,CODON|p.E131D|c.393G>C|3,CODON|p.E224D|c.672G>C|3,CODON|p.E224D|c.672G>T|7,BUFFER|p.?|c.672+2T>A|3,BUFFER|p.?|c.672+2T>A|3,BUFFER|p.?|c.672+2T>C|8,BUFFER|p.?|c.393+2T>A|3,BUFFER|p.?|c.672+2T>A|3,BUFFER|p.?|c.672+1G>A|4,BUFFER|p.?|c.393+1G>A|8,BUFFER|p.?|c.672+1G>A|8,BUFFER|p.?|c.672+1G>T|5,BUFFER|p.?|c.672+1G>A|8,BUFFER|p.?|c.672+1G>C|3,BUFFER|p.?|c.672+1G>T|3,BUFFER|p.?|c.672+1G>A|4,BUFFER|p.?|c.393+1G>T|6,BUFFER|p.?|c.672+1G>A|19,BUFFER|p.?|c.672+1G>T|16,BUFFER|p.?|c.672+1G>T|6,BUFFER|p.?|c.672+1G>T|6,BUFFER|p.E224K|c.670G>A|4,BUFFER|p.E224*|c.670G>T|5,BUFFER|p.P223L|c.668C>T|3,BUFFER|p.P222P|c.666G>C|3,BUFFER|p.P222L|c.665C>T|4,BUFFER|p.P222T|c.664C>A|3,BUFFER|p.E221G|c.662A>G|3,BUFFER|p.E221fs*4|c.660_661insN|3,BUFFER|p.E221*|c.661G>T|6,BUFFER|p.E221*|c.661G>T|6,BUFFER|p.E128*|c.382G>T|6,BUFFER|p.E221*|c.661G>T|10	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	rs267605076,CS100446,TP53_g.12741G>C,TP53_g.12741G>A,TP53_g.12741G>T,COSM11451,COSM44754,COSM44945,COSM707896,COSM707899,COSM326732,COSM707897,COSM707900,COSM326731,COSM3970352,COSM1646846,COSM1646847,COSM1649395,COSM707898,COSM326733,COSM707901	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,synonymous_variant,p.%3D,ENST00000413465,;TP53,synonymous_variant,p.%3D,ENST00000420246,;TP53,synonymous_variant,p.%3D,ENST00000269305,;TP53,synonymous_variant,p.%3D,ENST00000509690,;TP53,synonymous_variant,p.%3D,ENST00000359597,;TP53,synonymous_variant,p.%3D,ENST00000514944,;TP53,synonymous_variant,p.%3D,ENST00000445888,;TP53,synonymous_variant,p.%3D,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000504937,;TP53,splice_region_variant,,ENST00000504290,;TP53,splice_region_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	862	126	51	SUCCESS
DNAH2	146754	.	GRCh37	17	7695575	7695575	+	synonymous_variant	Silent	SNP	G	G	A	rs779175874	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	29	114	0	ENST00000389173.2:c.7059G>A	p.Thr2353=	p.T2353=	ENST00000389173	NM_020877.2	2353	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS32551.1	7059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGGTATA	NONE	byFrequency	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	.	.	ENSP00000458355	.	46/86	.	.	.	.	.	.	.	.	rs779175874	46/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,downstream_gene_variant,,ENST00000574518,;	8519	114	41	SUCCESS
FASN	2194	.	GRCh37	17	80038356	80038356	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1221950924	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	80	0	ENST00000306749.2:c.6937G>A	p.Val2313Met	p.V2313M	ENST00000306749	NM_004104.4	2313	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS11801.1	6937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGCAGG	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.50.1820,Pfam_domain:PF00975,Superfamily_domains:SSF53474	.	.	ENSP00000304592	.	40/43	.	.	.	.	.	.	.	.	.	40/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Val2313Met,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,synonymous_variant,p.%3D,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;	7156	80	58	SUCCESS
RCVRN	5957	.	GRCh37	17	9808459	9808459	+	synonymous_variant	Silent	SNP	G	G	T	rs759200108	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	35	68	0	ENST00000226193.5:c.39C>A	p.Ile13=	p.I13=	ENST00000226193	NM_002903.2	13	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11151.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGATCTC	NONE	.	.	hmmpanther:PTHR23055:SF20,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450	.	.	ENSP00000226193	.	1/3	.	.	.	.	.	.	.	.	rs759200108	1/3	PASS	ENST00000226193	Transcript	.	.	ENSG00000109047	9937	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RECO_HUMAN	RCVRN	HGNC	Q53XL0_HUMAN,J3QL94_HUMAN	.	UPI0000000C33	SNV	RCVRN,synonymous_variant,p.%3D,ENST00000226193,;RCVRN,upstream_gene_variant,,ENST00000570909,;	480	68	39	SUCCESS
POTEC	388468	.	GRCh37	18	14542926	14542926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	286	77	529	0	ENST00000358970.5:c.220G>T	p.Gly74Trp	p.G74W	ENST00000358970	NM_001137671.1	74	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS45835.1	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCCTGC	BUFFER|p.S75S|c.225C>T|3	.	.	hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118	.	.	ENSP00000351856	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious_low_confidence(0)	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,missense_variant,p.Gly74Trp,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Gly74Trp,ENST00000511306,;	220	529	364	SUCCESS
ZNF653	115950	.	GRCh37	19	11594956	11594956	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	72	0	ENST00000293771.5:c.1571G>A	p.Gly524Asp	p.G524D	ENST00000293771	NM_138783.3	524	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12261.1	1571	MUTECT|MUSE	.	GGACACCTGGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF353,hmmpanther:PTHR11389,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000293771	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000293771	Transcript	.	.	ENSG00000161914	25196	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	tolerated(0.24)	.	ZN653_HUMAN	ZNF653	HGNC	.	.	UPI000006FAFC	SNV	ZNF653,missense_variant,p.Gly524Asp,ENST00000293771,;ZNF653,missense_variant,p.Gly136Asp,ENST00000592756,;ZNF653,missense_variant,p.Val22Met,ENST00000589051,;ZNF653,missense_variant,p.Gly61Asp,ENST00000590296,;ELAVL3,upstream_gene_variant,,ENST00000588853,;ELAVL3,upstream_gene_variant,,ENST00000438662,;ELAVL3,upstream_gene_variant,,ENST00000359227,;ELAVL3,upstream_gene_variant,,ENST00000592218,;ZNF653,splice_region_variant,,ENST00000590548,;CTC-398G3.6,intron_variant,,ENST00000585656,;	1708	72	57	SUCCESS
GTPBP3	84705	.	GRCh37	19	17448408	17448408	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	93	218	1	ENST00000324894.8:c.-13A>C		p.*5*	ENST00000324894	NM_133644.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32950.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGCAGGTTG	NONE	.	.	.	.	.	ENSP00000351644	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000358792	Transcript	1	.	ENSG00000130299	14880	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GTPB3_HUMAN	GTPBP3	HGNC	.	.	UPI000059D6A7	SNV	GTPBP3,5_prime_UTR_variant,,ENST00000324894,;GTPBP3,5_prime_UTR_variant,,ENST00000358792,;GTPBP3,5_prime_UTR_variant,,ENST00000600625,;GTPBP3,intron_variant,,ENST00000361619,;ANO8,upstream_gene_variant,,ENST00000159087,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000596166,;GTPBP3,intron_variant,,ENST00000596218,;GTPBP3,intron_variant,,ENST00000598038,;GTPBP3,intron_variant,,ENST00000595951,;GTPBP3,intron_variant,,ENST00000600995,;GTPBP3,intron_variant,,ENST00000596941,;GTPBP3,intron_variant,,ENST00000593297,;GTPBP3,intron_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,5_prime_UTR_variant,,ENST00000602165,;GTPBP3,5_prime_UTR_variant,,ENST00000600610,;GTPBP3,5_prime_UTR_variant,,ENST00000598493,;GTPBP3,5_prime_UTR_variant,,ENST00000594018,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000596001,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000599429,;GTPBP3,intron_variant,,ENST00000601261,;GTPBP3,intron_variant,,ENST00000601213,;GTPBP3,upstream_gene_variant,,ENST00000594703,;GTPBP3,upstream_gene_variant,,ENST00000601983,;GTPBP3,upstream_gene_variant,,ENST00000599329,;ANO8,upstream_gene_variant,,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000595194,;GTPBP3,upstream_gene_variant,,ENST00000596125,;ANO8,upstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000602056,;	45	220	197	SUCCESS
ZNF302	55900	.	GRCh37	19	35175888	35175888	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs528898854	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	52	132	0	ENST00000505242.1:c.946C>T	p.Arg316Cys	p.R316C	ENST00000505242		316	Cgt/Tgt	0	.	T:0	.	T:0.0014	.	T	R/C	protein_coding	YES	CCDS46042.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCGTATA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0.001	.	ENSP00000421028	T:0	5/5	.	.	.	.	.	.	.	.	rs528898854	5/5	PASS	ENST00000505242	Transcript	.	T:0.0004	ENSG00000089335	13848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	T:0	deleterious(0.01)	.	ZN302_HUMAN	ZNF302	HGNC	Q7Z4B9_HUMAN,D6RAM0_HUMAN	.	UPI0000001668	SNV	ZNF302,missense_variant,p.Arg316Cys,ENST00000457781,;ZNF302,missense_variant,p.Arg316Cys,ENST00000423823,;ZNF302,missense_variant,p.Arg360Cys,ENST00000446502,;ZNF302,missense_variant,p.Arg316Cys,ENST00000505242,;ZNF302,3_prime_UTR_variant,,ENST00000505365,;ZNF302,downstream_gene_variant,,ENST00000506901,;ZNF302,downstream_gene_variant,,ENST00000505163,;ZNF302,downstream_gene_variant,,ENST00000507959,;ZNF302,downstream_gene_variant,,ENST00000509528,;ZNF302,downstream_gene_variant,,ENST00000502743,;ZNF302,non_coding_transcript_exon_variant,,ENST00000509196,;ZNF302,downstream_gene_variant,,ENST00000512455,;ZNF302,downstream_gene_variant,,ENST00000510002,;	1440	132	157	SUCCESS
ZNF383	163087	.	GRCh37	19	37734077	37734077	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	81	0	ENST00000352998.3:c.939G>C	p.Lys313Asn	p.K313N	ENST00000352998	NM_152604.1	313	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS12501.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAAGGAATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF172,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000464871	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000589413	Transcript	.	.	ENSG00000188283	18609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.18)	.	ZN383_HUMAN	ZNF383	HGNC	K7EJN0_HUMAN,B3KRK0_HUMAN	.	UPI00000717CC	SNV	ZNF383,missense_variant,p.Lys313Asn,ENST00000589413,;ZNF383,missense_variant,p.Lys313Asn,ENST00000352998,;ZNF383,missense_variant,p.Lys313Asn,ENST00000590503,;ZNF383,downstream_gene_variant,,ENST00000588371,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;ZNF383,downstream_gene_variant,,ENST00000588250,;	1522	81	88	SUCCESS
C19orf33	64073	.	GRCh37	19	38795598	38795598	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	269	77	392	1	ENST00000301246.5:c.315C>T	p.Pro105=	p.P105=	ENST00000301246	NM_033520.1	105	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12511.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCACTG	BUFFER|p.E103K|c.307G>A|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21830	.	.	ENSP00000301246	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000301246	Transcript	.	.	ENSG00000167644	16668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMUP_HUMAN	C19orf33	HGNC	.	.	UPI000006DC1A	SNV	C19orf33,synonymous_variant,p.%3D,ENST00000301246,;C19orf33,3_prime_UTR_variant,,ENST00000588605,;YIF1B,downstream_gene_variant,,ENST00000592246,;YIF1B,downstream_gene_variant,,ENST00000337679,;YIF1B,downstream_gene_variant,,ENST00000592694,;YIF1B,downstream_gene_variant,,ENST00000329420,;YIF1B,downstream_gene_variant,,ENST00000339413,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000591784,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000392124,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000587361,;C19orf33,non_coding_transcript_exon_variant,,ENST00000591852,;C19orf33,non_coding_transcript_exon_variant,,ENST00000589986,;YIF1B,downstream_gene_variant,,ENST00000589151,;YIF1B,downstream_gene_variant,,ENST00000586319,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;	416	393	347	SUCCESS
FCGBP	8857	.	GRCh37	19	40424388	40424388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	50	0	ENST00000221347.6:c.1815C>A	p.Asp605Glu	p.D605E	ENST00000221347	NM_003890.2	605	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS12546.1	1815	MUTECT|MUSE	.	ACCTGGTCTTG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000221347	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.855)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Asp605Glu,ENST00000221347,;	1823	50	52	SUCCESS
ANKRD24	170961	.	GRCh37	19	4202880	4202880	+	synonymous_variant	Silent	SNP	G	G	A	rs1181865255	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	96	248	0	ENST00000318934.4:c.423G>A	p.Val141=	p.V141=	ENST00000318934		141	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45925.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGGACGT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000471252	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000600132	Transcript	.	.	ENSG00000089847	29424	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR24_HUMAN	ANKRD24	HGNC	.	.	UPI000041F5A9	SNV	ANKRD24,synonymous_variant,p.%3D,ENST00000262970,;ANKRD24,synonymous_variant,p.%3D,ENST00000600132,;ANKRD24,synonymous_variant,p.%3D,ENST00000597689,;ANKRD24,synonymous_variant,p.%3D,ENST00000318934,;ANKRD24,intron_variant,,ENST00000595928,;	699	248	229	SUCCESS
GPR4	2828	.	GRCh37	19	46094909	46094932	+	inframe_deletion	In_Frame_Del	DEL	CAGCGGCAGCGTGCAGATGTACAG	CAGCGGCAGCGTGCAGATGTACAG	-	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	CAGCGGCAGCGTGCAGATGTACAG	CAGCGGCAGCGTGCAGATGTACAG	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	141	0	ENST00000323040.4:c.193_216del	p.Leu65_Leu72del	p.L65_L72del	ENST00000323040	NM_005282.2	65	CTGTACATCTGCACGCTGCCGCTG/-	0	.	.	.	.	.	-	LYICTLPL/-	protein_coding	YES	CCDS12669.1	193-216	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCCACAGCGGCAGCGTGCAGATGTACAGCAGGT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF42,hmmpanther:PTHR24232,PROSITE_profiles:PS50262	.	.	ENSP00000319744	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000323040	Transcript	.	.	ENSG00000177464	4497	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPR4_HUMAN	GPR4	HGNC	.	.	UPI0000050428	deletion	GPR4,inframe_deletion,p.Leu65_Leu72del,ENST00000323040,;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	1138-1161	141	86	SUCCESS
CCDC155	0	.	GRCh37	19	49899026	49899026	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1014017883	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	39	0	ENST00000447857.3:c.336G>A		p.X112_splice	ENST00000447857	NM_144688.4	112	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS46140.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGGGGATT	NONE	.	.	.	.	.	ENSP00000404220	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000447857	Transcript	.	.	ENSG00000161609	26520	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KASH5_HUMAN	CCDC155	HGNC	M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN	.	UPI000006F690	SNV	CCDC155,synonymous_variant,p.%3D,ENST00000600570,;CCDC155,synonymous_variant,p.%3D,ENST00000594043,;CCDC155,synonymous_variant,p.%3D,ENST00000595828,;CCDC155,synonymous_variant,p.%3D,ENST00000447857,;CCDC155,synonymous_variant,p.%3D,ENST00000598730,;CCDC155,downstream_gene_variant,,ENST00000594905,;CCDC155,downstream_gene_variant,,ENST00000593725,;CCDC155,splice_region_variant,,ENST00000596771,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596130,;CCDC155,downstream_gene_variant,,ENST00000596862,;CCDC155,downstream_gene_variant,,ENST00000600895,;CCDC155,downstream_gene_variant,,ENST00000597993,;CCDC155,upstream_gene_variant,,ENST00000593631,;	541	39	30	SUCCESS
SHANK1	50944	.	GRCh37	19	51170472	51170472	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	89	0	ENST00000293441.1:c.4745C>A	p.Ser1582Ter	p.S1582*	ENST00000293441	NM_016148.2	1582	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS12799.1	4745	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGACTCT	NONE	.	.	hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,stop_gained,p.Ser1590Ter,ENST00000391814,;SHANK1,stop_gained,p.Ser969Ter,ENST00000391813,;SHANK1,stop_gained,p.Ser1573Ter,ENST00000359082,;SHANK1,stop_gained,p.Ser1582Ter,ENST00000293441,;SYT3,intron_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,upstream_gene_variant,,ENST00000468654,;	4764	89	57	SUCCESS
HAS1	3036	.	GRCh37	19	52222893	52222893	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	85	0	ENST00000222115.1:c.268G>T	p.Asp90Tyr	p.D90Y	ENST00000222115	NM_001523.2	90	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS12838.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCCAGCG	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4	.	.	ENSP00000222115	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.29)	.	deleterious(0.03)	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,missense_variant,p.Asp89Tyr,ENST00000540069,;HAS1,missense_variant,p.Asp90Tyr,ENST00000222115,;HAS1,missense_variant,p.Asp97Tyr,ENST00000601714,;HAS1,upstream_gene_variant,,ENST00000594621,;HAS1,upstream_gene_variant,,ENST00000601667,;	303	85	77	SUCCESS
ZNF628	89887	.	GRCh37	19	55995321	55995321	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1238023425	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	44	88	0	ENST00000598519.1:c.2761G>T	p.Asp921Tyr	p.D921Y	ENST00000598519	NM_033113.2	921	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS33116.3	2761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGATGTC	NONE	.	.	.	.	.	ENSP00000469591	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000598519	Transcript	.	.	ENSG00000197483	28054	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	ZN628_HUMAN	ZNF628	HGNC	K7EL41_HUMAN	.	UPI00026B9C6E	SNV	ZNF628,missense_variant,p.Asp917Tyr,ENST00000391718,;ZNF628,missense_variant,p.Asp921Tyr,ENST00000598519,;SSC5D,upstream_gene_variant,,ENST00000594321,;SSC5D,upstream_gene_variant,,ENST00000389623,;SSC5D,upstream_gene_variant,,ENST00000587166,;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;NAT14,upstream_gene_variant,,ENST00000587400,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000205194,;NAT14,upstream_gene_variant,,ENST00000592719,;SSC5D,upstream_gene_variant,,ENST00000588254,;	3314	88	100	SUCCESS
ZNF304	57343	.	GRCh37	19	57867488	57867488	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	61	176	0	ENST00000282286.5:c.251T>A	p.Leu84His	p.L84H	ENST00000282286		84	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS12950.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCTTTTCC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205	.	.	ENSP00000375586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391705	Transcript	.	.	ENSG00000131845	13505	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	tolerated(0.06)	.	ZN304_HUMAN	ZNF304	HGNC	M0QZ59_HUMAN	.	UPI000013CAB8	SNV	ZNF304,missense_variant,p.Leu131His,ENST00000443917,;ZNF304,missense_variant,p.Leu84His,ENST00000282286,;ZNF304,missense_variant,p.Leu84His,ENST00000391705,;ZNF304,missense_variant,p.Leu42His,ENST00000598744,;CTC-444N24.13,upstream_gene_variant,,ENST00000597973,;	535	176	147	SUCCESS
ZNF17	7565	.	GRCh37	19	57922725	57922725	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs764003449	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	97	1	ENST00000601808.1:c.-35G>A		p.*12*	ENST00000601808	NM_006959.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42636.1	.	RADIA|MUTECT|MUSE	.	GCCCCGCTCTT	NONE	.	.	.	.	.	ENSP00000471905	.	1/3	.	.	.	.	.	.	.	.	rs764003449	1/3	PASS	ENST00000601808	Transcript	.	.	ENSG00000186272	12958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF17_HUMAN	ZNF17	HGNC	.	.	UPI00001D8198	SNV	ZNF17,5_prime_UTR_variant,,ENST00000307658,;ZNF17,5_prime_UTR_variant,,ENST00000601808,;AC003002.6,intron_variant,,ENST00000596400,;AC003002.6,intron_variant,,ENST00000596617,;AC004076.7,intron_variant,,ENST00000597410,;ZNF17,upstream_gene_variant,,ENST00000597350,;ZNF17,non_coding_transcript_exon_variant,,ENST00000595206,;ZNF17,non_coding_transcript_exon_variant,,ENST00000599867,;AC003002.6,downstream_gene_variant,,ENST00000600421,;ZNF17,5_prime_UTR_variant,,ENST00000595162,;	179	98	80	SUCCESS
ZNF587	84914	.	GRCh37	19	58370043	58370043	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	28	155	0	ENST00000339656.5:c.263C>G	p.Pro88Arg	p.P88R	ENST00000339656	NM_032828.3	88	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	.	263	RADIA|VARSCANS	.	TTCTCCTAAGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF22	.	.	ENSP00000471077	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000598031	Transcript	.	.	ENSG00000268750	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.529)	.	tolerated(0.2)	.	.	CTD-2583A14.10	Clone_based_vega_gene	M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN	.	UPI0003335060	SNV	CTD-2583A14.10,missense_variant,p.Pro88Arg,ENST00000598031,;ZNF587,missense_variant,p.Pro87Arg,ENST00000423137,;ZNF587,missense_variant,p.Pro45Arg,ENST00000419854,;CTD-2583A14.10,missense_variant,p.Pro45Arg,ENST00000596498,;CTD-2583A14.10,missense_variant,p.Pro87Arg,ENST00000603271,;ZNF587,missense_variant,p.Pro88Arg,ENST00000339656,;ZNF814,3_prime_UTR_variant,,ENST00000595295,;CTD-2583A14.10,5_prime_UTR_variant,,ENST00000593873,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597832,;CTD-2583A14.10,downstream_gene_variant,,ENST00000597134,;ZNF587B,downstream_gene_variant,,ENST00000316462,;ZNF814,upstream_gene_variant,,ENST00000597652,;ZNF587,upstream_gene_variant,,ENST00000596433,;ZNF587,downstream_gene_variant,,ENST00000484707,;ZNF814,non_coding_transcript_exon_variant,,ENST00000596184,;ZNF814,intron_variant,,ENST00000595894,;CTD-2583A14.10,downstream_gene_variant,,ENST00000604231,;	370	155	138	SUCCESS
MUC16	94025	.	GRCh37	19	9066696	9066696	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	84	0	ENST00000397910.4:c.20750T>A	p.Met6917Lys	p.M6917K	ENST00000397910	NM_024690.2	6917	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS54212.1	20750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCATTGGA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Met6917Lys,ENST00000397910,;	20954	84	80	SUCCESS
KCNA10	3744	.	GRCh37	1	111061741	111061741	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	81	220	0	ENST00000369771.2:c.-332C>T		p.*111*	ENST00000369771	NM_005549.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS826.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGGGCC	NONE	.	.	.	.	.	ENSP00000358786	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369771	Transcript	.	.	ENSG00000143105	6219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCA10_HUMAN	KCNA10	HGNC	Q7KYZ7_HUMAN	.	UPI0000071B2B	SNV	KCNA10,5_prime_UTR_variant,,ENST00000369771,;	57	220	179	SUCCESS
SETDB1	9869	.	GRCh37	1	150936503	150936503	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	145	0	ENST00000271640.5:c.3702T>G	p.Asn1234Lys	p.N1234K	ENST00000271640	NM_001145415.1	1234	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS44217.1	3702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATGTCTT	NONE	.	.	PROSITE_profiles:PS51573,PROSITE_profiles:PS50280,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000271640	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000271640	Transcript	.	.	ENSG00000143379	10761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SETB1_HUMAN	SETDB1	HGNC	E9PS59_HUMAN,B0QZE6_HUMAN	.	UPI0000135897	SNV	SETDB1,missense_variant,p.Asn1234Lys,ENST00000271640,;SETDB1,missense_variant,p.Asn1234Lys,ENST00000368969,;CERS2,3_prime_UTR_variant,,ENST00000561294,;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000560793,;CERS2,downstream_gene_variant,,ENST00000457392,;CERS2,downstream_gene_variant,,ENST00000368954,;CERS2,downstream_gene_variant,,ENST00000368949,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000271688,;CERS2,downstream_gene_variant,,ENST00000421609,;RP11-316M1.12,upstream_gene_variant,,ENST00000560481,;RP11-316M1.12,upstream_gene_variant,,ENST00000561111,;SETDB1,downstream_gene_variant,,ENST00000459773,;CERS2,downstream_gene_variant,,ENST00000345896,;SETDB1,non_coding_transcript_exon_variant,,ENST00000497314,;CERS2,intron_variant,,ENST00000482825,;SETDB1,downstream_gene_variant,,ENST00000528749,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,downstream_gene_variant,,ENST00000559660,;CERS2,downstream_gene_variant,,ENST00000460664,;	3892	145	119	SUCCESS
FLG	2312	.	GRCh37	1	152285059	152285059	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764517654	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	63	114	0	ENST00000368799.1:c.2303C>A	p.Ala768Asp	p.A768D	ENST00000368799	NM_002016.1	768	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS30860.1	2303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGCCTGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs764517654,COSM3399739	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	.	0,1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Ala768Asp,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	2339	114	128	SUCCESS
TMEM9	252839	.	GRCh37	1	201123075	201123075	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	71	148	0	ENST00000367330.1:c.-24G>C		p.*8*	ENST00000367330	NM_001288565.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAAAGC	NONE	.	.	.	.	.	ENSP00000356299	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000367330	Transcript	.	.	ENSG00000116857	18823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMEM9_HUMAN	TMEM9	HGNC	Q6FIF9_HUMAN,B1ALM7_HUMAN	.	UPI000003B08A	SNV	TMEM9,5_prime_UTR_variant,,ENST00000414605,;TMEM9,5_prime_UTR_variant,,ENST00000367330,;TMEM9,5_prime_UTR_variant,,ENST00000367333,;TMEM9,5_prime_UTR_variant,,ENST00000367334,;TMEM9,5_prime_UTR_variant,,ENST00000485839,;TMEM9,5_prime_UTR_variant,,ENST00000455367,;TMEM9,5_prime_UTR_variant,,ENST00000435310,;TMEM9,5_prime_UTR_variant,,ENST00000367332,;TMEM9,non_coding_transcript_exon_variant,,ENST00000495205,;TMEM9,5_prime_UTR_variant,,ENST00000497582,;	494	148	140	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204438438	204438438	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748272390	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	72	0	ENST00000367187.3:c.493A>G	p.Ile165Val	p.I165V	ENST00000367187	NM_002646.3	165	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1446.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGATAGAAG	NONE	.	.	hmmpanther:PTHR10048:SF30,hmmpanther:PTHR10048	.	.	ENSP00000356155	.	3/34	.	.	.	.	.	.	.	.	rs748272390	3/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated_low_confidence(0.42)	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,missense_variant,p.Ile165Val,ENST00000367187,;PIK3C2B,missense_variant,p.Ile165Val,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;PIK3C2B,upstream_gene_variant,,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;	1050	72	73	SUCCESS
INTS7	25896	.	GRCh37	1	212193463	212193463	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	103	146	0	ENST00000366994.3:c.371+1G>A		p.X124_splice	ENST00000366994	NM_001199811.1	124		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1501.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATACCGGAG	NONE	.	.	.	.	.	ENSP00000355961	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366994	Transcript	.	.	ENSG00000143493	24484	.	.	HIGH	3/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT7_HUMAN	INTS7	HGNC	.	.	UPI000006FE2E	SNV	INTS7,splice_donor_variant,,ENST00000366994,;INTS7,splice_donor_variant,,ENST00000366993,;INTS7,splice_donor_variant,,ENST00000366992,;INTS7,intron_variant,,ENST00000440600,;INTS7,splice_donor_variant,,ENST00000469606,;	.	146	202	SUCCESS
FLVCR1	28982	.	GRCh37	1	213046020	213046020	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs138069386	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	211	420	1	ENST00000366971.4:c.884C>T	p.Ala295Val	p.A295V	ENST00000366971	NM_014053.3	295	gCc/gTc	0	G:0.0002	.	.	.	.	T	A/V	protein_coding	YES	CCDS1510.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCCTTCA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR10924:SF2,hmmpanther:PTHR10924,PROSITE_profiles:PS50850	.	G:0	ENSP00000355938	.	3/10	.	.	.	.	.	.	.	.	rs138069386	3/10	PASS	ENST00000366971	Transcript	.	.	ENSG00000162769	24682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	FLVC1_HUMAN	FLVCR1	HGNC	.	.	UPI000006D3BB	SNV	FLVCR1,missense_variant,p.Ala295Val,ENST00000366971,;FLVCR1,intron_variant,,ENST00000419102,;FLVCR1,splice_region_variant,,ENST00000474693,;FLVCR1,downstream_gene_variant,,ENST00000579295,;	1082	421	445	SUCCESS
NUP133	55746	.	GRCh37	1	229641905	229641905	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1161184895	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	43	73	0	ENST00000261396.3:c.183G>A		p.X61_splice	ENST00000261396	NM_018230.2	61	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1579.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCCCTAAA	NONE	.	.	hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,synonymous_variant,p.%3D,ENST00000537506,;NUP133,synonymous_variant,p.%3D,ENST00000366678,;NUP133,synonymous_variant,p.%3D,ENST00000261396,;RP4-613A2.1,upstream_gene_variant,,ENST00000417605,;	275	73	113	SUCCESS
RHCE	6006	.	GRCh37	1	25747328	25747328	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	59	0	ENST00000294413.7:c.-51G>T		p.*17*	ENST00000294413	NM_020485.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30635.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCTCTCC	NONE	.	.	.	.	.	ENSP00000294413	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000294413	Transcript	.	.	ENSG00000188672	10008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHCE_HUMAN	RHCE	HGNC	Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN	.	UPI00001D9627	SNV	RHCE,5_prime_UTR_variant,,ENST00000455194,;RHCE,5_prime_UTR_variant,,ENST00000425135,;RHCE,5_prime_UTR_variant,,ENST00000243186,;RHCE,5_prime_UTR_variant,,ENST00000413854,;RHCE,5_prime_UTR_variant,,ENST00000294413,;RHCE,intron_variant,,ENST00000349320,;RHCE,upstream_gene_variant,,ENST00000340849,;RHCE,upstream_gene_variant,,ENST00000346452,;RHCE,upstream_gene_variant,,ENST00000349438,;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;RHCE,upstream_gene_variant,,ENST00000533771,;	9	59	55	SUCCESS
EXTL1	2134	.	GRCh37	1	26349593	26349593	+	synonymous_variant	Silent	SNP	A	A	G	rs758644180	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	125	0	ENST00000374280.3:c.456A>G	p.Gln152=	p.Q152=	ENST00000374280	NM_004455.2	152	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS271.1	456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAATGGAA	NONE	byFrequency	.	hmmpanther:PTHR11062:SF8,hmmpanther:PTHR11062,Pfam_domain:PF03016	.	.	ENSP00000363398	.	1/11	.	.	.	.	.	.	.	.	rs758644180	1/11	PASS	ENST00000374280	Transcript	.	.	ENSG00000158008	3515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXTL1_HUMAN	EXTL1	HGNC	.	.	UPI000013DF48	SNV	EXTL1,synonymous_variant,p.%3D,ENST00000374280,;EXTL1,intron_variant,,ENST00000481377,;EXTL1,upstream_gene_variant,,ENST00000484339,;	1323	125	87	SUCCESS
PPP1R8	5511	.	GRCh37	1	28157519	28157519	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	4	95	0	ENST00000311772.5:c.56+117G>A		p.*19*	ENST00000311772	NM_014110.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS311.1	.	MUTECT|MUSE	.	GAATGGTTGAG	NONE	.	.	.	.	.	ENSP00000311677	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311772	Transcript	.	.	ENSG00000117751	9296	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PP1R8_HUMAN	PPP1R8	HGNC	Q6ICT4_HUMAN	.	UPI00001320FD	SNV	PPP1R8,5_prime_UTR_variant,,ENST00000236412,;PPP1R8,5_prime_UTR_variant,,ENST00000373931,;PPP1R8,intron_variant,,ENST00000311772,;PPP1R8,upstream_gene_variant,,ENST00000431586,;SCARNA1,upstream_gene_variant,,ENST00000517138,;	.	95	90	SUCCESS
C1orf174	339448	.	GRCh37	1	3816802	3816802	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs757038396	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	21	59	0	ENST00000361605.3:c.-52G>T		p.*18*	ENST00000361605	NM_207356.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCGGAGC	NONE	byFrequency	.	.	.	.	ENSP00000355306	.	1/4	.	.	.	.	.	.	.	.	rs757038396	1/4	PASS	ENST00000361605	Transcript	.	.	ENSG00000198912	27915	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA174_HUMAN	C1orf174	HGNC	.	.	UPI00001C1D98	SNV	C1orf174,5_prime_UTR_variant,,ENST00000361605,;LINC01134,upstream_gene_variant,,ENST00000442673,;LINC01134,upstream_gene_variant,,ENST00000439488,;LINC01134,upstream_gene_variant,,ENST00000413332,;C1orf174,non_coding_transcript_exon_variant,,ENST00000486765,;C1orf174,non_coding_transcript_exon_variant,,ENST00000474140,;	48	59	45	SUCCESS
HECTD3	79654	.	GRCh37	1	45469948	45469948	+	synonymous_variant	Silent	SNP	C	C	T	rs1488462723	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	95	0	ENST00000372172.4:c.2244G>A	p.Glu748=	p.E748=	ENST00000372172	NM_024602.5	748	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS41318.1	2244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCTCTGG	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,PROSITE_profiles:PS50237	.	.	ENSP00000361245	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000372172	Transcript	.	.	ENSG00000126107	26117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECD3_HUMAN	HECTD3	HGNC	A1A4G1_HUMAN	.	UPI0000204F79	SNV	HECTD3,synonymous_variant,p.%3D,ENST00000372172,;HECTD3,synonymous_variant,p.%3D,ENST00000372168,;HECTD3,non_coding_transcript_exon_variant,,ENST00000466423,;HECTD3,non_coding_transcript_exon_variant,,ENST00000486132,;HECTD3,non_coding_transcript_exon_variant,,ENST00000486296,;HECTD3,downstream_gene_variant,,ENST00000484564,;HECTD3,downstream_gene_variant,,ENST00000487488,;	2316	95	74	SUCCESS
NDC1	55706	.	GRCh37	1	54238115	54238115	+	synonymous_variant	Silent	SNP	G	G	A	rs758542055	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	54	145	0	ENST00000371429.3:c.1848C>T	p.Pro616=	p.P616=	ENST00000371429	NM_001168551.1	616	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS583.1	1848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCGGGGTGG	NONE	.	.	Pfam_domain:PF09531,hmmpanther:PTHR13269:SF6,hmmpanther:PTHR13269	.	.	ENSP00000360483	.	17/18	.	.	.	.	.	.	.	.	rs758542055	17/18	PASS	ENST00000371429	Transcript	.	.	ENSG00000058804	25525	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDC1_HUMAN	NDC1	HGNC	G3XA81_HUMAN,B4DZG6_HUMAN	.	UPI000006D8F7	SNV	NDC1,synonymous_variant,p.%3D,ENST00000537333,;NDC1,synonymous_variant,p.%3D,ENST00000234725,;NDC1,synonymous_variant,p.%3D,ENST00000371429,;NDC1,3_prime_UTR_variant,,ENST00000540001,;SNORA58,upstream_gene_variant,,ENST00000364133,;	2447	145	142	SUCCESS
LRRC7	57554	.	GRCh37	1	70300520	70300520	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	48	0	ENST00000035383.5:c.444C>T	p.Ala148=	p.A148=	ENST00000035383	NM_020794.2	148	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS645.1	444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCTTTCT	NONE	.	.	hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000035383	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,synonymous_variant,p.%3D,ENST00000370958,;LRRC7,synonymous_variant,p.%3D,ENST00000035383,;LRRC7,synonymous_variant,p.%3D,ENST00000310961,;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	474	48	73	SUCCESS
SLC45A1	50651	.	GRCh37	1	8386007	8386007	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147535403	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	38	0	ENST00000289877.8:c.620C>T	p.Ala207Val	p.A207V	ENST00000289877	NM_001080397.1	207	gCc/gTc	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS30577.1	620	MUTECT|MUSE	.	TAGCGCCGACT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF6,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	T:0.0001	ENSP00000418096	.	4/9	.	.	.	.	.	.	.	.	rs147535403	4/9	PASS	ENST00000471889	Transcript	.	.	ENSG00000162426	17939	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S45A1_HUMAN	SLC45A1	HGNC	.	.	UPI000040EA42	SNV	SLC45A1,missense_variant,p.Ala207Val,ENST00000289877,;SLC45A1,missense_variant,p.Ala241Val,ENST00000377479,;SLC45A1,missense_variant,p.Ala207Val,ENST00000471889,;Y_RNA,upstream_gene_variant,,ENST00000516445,;SLC45A1,upstream_gene_variant,,ENST00000481265,;SLC45A1,upstream_gene_variant,,ENST00000497660,;	1005	38	31	SUCCESS
PRKACB	5567	.	GRCh37	1	84543803	84543803	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1557887994	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	23	0	ENST00000370689.2:c.-206C>T		p.*69*	ENST00000370689	NM_002731.2			0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	GCCGCCGCTGC	NONE	.	189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605506	Transcript	.	.	ENSG00000271576	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-486G15.2	Clone_based_vega_gene	.	.	.	SNV	PRKACB,5_prime_UTR_variant,,ENST00000370689,;PRKACB,upstream_gene_variant,,ENST00000370688,;RP11-486G15.2,upstream_gene_variant,,ENST00000605506,;	.	23	43	SUCCESS
PKN2	5586	.	GRCh37	1	89251817	89251817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	116	0	ENST00000370521.3:c.1202A>G	p.Asn401Ser	p.N401S	ENST00000370521	NM_006256.2	401	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS714.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATAATACTG	NONE	.	.	hmmpanther:PTHR24357:SF76,hmmpanther:PTHR24357,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000359552	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000370521	Transcript	.	.	ENSG00000065243	9406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.391)	.	tolerated(0.05)	.	PKN2_HUMAN	PKN2	HGNC	Q6P5W9_HUMAN	.	UPI000004D291	SNV	PKN2,missense_variant,p.Asn401Ser,ENST00000370513,;PKN2,missense_variant,p.Asn244Ser,ENST00000370505,;PKN2,missense_variant,p.Asn401Ser,ENST00000370521,;PKN2,missense_variant,p.Asn121Ser,ENST00000436111,;PKN2,missense_variant,p.Asn75Ser,ENST00000544045,;PKN2,missense_variant,p.Asn401Ser,ENST00000316005,;	1561	116	120	SUCCESS
TPX2	22974	.	GRCh37	20	30381706	30381706	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	86	220	0	ENST00000300403.6:c.1565C>T	p.Pro522Leu	p.P522L	ENST00000300403	NM_012112.4	522	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13190.1	1565	RADIA|MUTECT|MUSE	.	GGTGCCTTTTA	NONE	.	.	hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9,Pfam_domain:PF12214	.	.	ENSP00000300403	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000300403	Transcript	.	.	ENSG00000088325	1249	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.591)	.	deleterious(0)	.	TPX2_HUMAN	TPX2	HGNC	Q96FC3_HUMAN,Q643R0_HUMAN,B3KM90_HUMAN	.	UPI00000015BB	SNV	TPX2,missense_variant,p.Pro522Leu,ENST00000300403,;TPX2,missense_variant,p.Pro558Leu,ENST00000340513,;	2093	220	216	SUCCESS
PCK1	5105	.	GRCh37	20	56139535	56139535	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	96	0	ENST00000319441.4:c.1187-3T>C		p.X396_splice	ENST00000319441	NM_002591.3	396		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13460.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTATAGGGG	NONE	.	.	.	.	.	ENSP00000319814	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	LOW	7/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,synonymous_variant,p.%3D,ENST00000535860,;PCK1,splice_region_variant,,ENST00000319441,;PCK1,splice_region_variant,,ENST00000543666,;PCK1,splice_region_variant,,ENST00000485958,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	.	96	70	SUCCESS
DIDO1	11083	.	GRCh37	20	61522203	61522203	+	intron_variant	Intron	SNP	C	C	T	rs754776726	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	48	0	ENST00000266070.4:c.3541+109G>A		p.*1181*	ENST00000266070	NM_033081.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33506.1	.	MUTECT|MUSE	.	TAACTCCTGCT	NONE	.	.	.	.	.	ENSP00000266070	.	.	.	.	.	.	.	.	.	.	rs754776726	.	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODIFIER	15/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,3_prime_UTR_variant,,ENST00000395335,;DIDO1,3_prime_UTR_variant,,ENST00000395340,;DIDO1,intron_variant,,ENST00000266070,;DIDO1,intron_variant,,ENST00000395343,;	.	48	45	SUCCESS
PRDM15	63977	.	GRCh37	21	43221607	43221607	+	synonymous_variant	Silent	SNP	C	C	T	rs768787999	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	66	208	0	ENST00000269844.3:c.4317G>A	p.Gln1439=	p.Q1439=	ENST00000269844	NM_022115.3	1439	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13676.1	4317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGACTGTGG	NONE	.	.	.	.	.	ENSP00000269844	.	31/31	.	.	.	.	.	.	.	.	rs768787999	31/31	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,synonymous_variant,p.%3D,ENST00000269844,;PRDM15,synonymous_variant,p.%3D,ENST00000422911,;PRDM15,synonymous_variant,p.%3D,ENST00000398548,;PRDM15,synonymous_variant,p.%3D,ENST00000447207,;PRDM15,synonymous_variant,p.%3D,ENST00000538201,;PRDM15,non_coding_transcript_exon_variant,,ENST00000470586,;PRDM15,downstream_gene_variant,,ENST00000465955,;PRDM15,downstream_gene_variant,,ENST00000495217,;PRDM15,downstream_gene_variant,,ENST00000477633,;PRDM15,synonymous_variant,p.%3D,ENST00000433067,;PRDM15,synonymous_variant,p.%3D,ENST00000447016,;PRDM15,3_prime_UTR_variant,,ENST00000449395,;PRDM15,3_prime_UTR_variant,,ENST00000441787,;PRDM15,non_coding_transcript_exon_variant,,ENST00000486812,;	4428	208	119	SUCCESS
SRRD	402055	.	GRCh37	22	26887625	26887625	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	37	0	ENST00000215917.7:c.1007C>T	p.Ser336Phe	p.S336F	ENST00000215917	NM_001013694.2	336	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS42995.1	1007	MUTECT|MUSE	.	TCCTTCTGCTA	NONE	.	.	.	.	.	ENSP00000215917	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000215917	Transcript	.	.	ENSG00000100104	33910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.556)	.	deleterious_low_confidence(0)	.	SRR1L_HUMAN	SRRD	HGNC	.	.	UPI00000723CF	SNV	SRRD,missense_variant,p.Ser336Phe,ENST00000215917,;TFIP11,3_prime_UTR_variant,,ENST00000407690,;TFIP11,downstream_gene_variant,,ENST00000407431,;TFIP11,downstream_gene_variant,,ENST00000407148,;TFIP11,downstream_gene_variant,,ENST00000405938,;SRRD,non_coding_transcript_exon_variant,,ENST00000471799,;SRRD,downstream_gene_variant,,ENST00000477945,;TFIP11,downstream_gene_variant,,ENST00000492137,;	1021	37	47	SUCCESS
CDC42EP1	11135	.	GRCh37	22	37964811	37964811	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1474373667	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	73	204	0	ENST00000249014.4:c.1160A>G	p.Asp387Gly	p.D387G	ENST00000249014	NM_152243.2	387	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13949.1	1160	RADIA|MUTECT|MUSE	.	GGATGATGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15344:SF7,hmmpanther:PTHR15344	.	.	ENSP00000249014	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000249014	Transcript	.	.	ENSG00000128283	17014	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	BORG5_HUMAN	CDC42EP1	HGNC	B0QYC8_HUMAN,B0QYC7_HUMAN,B0QYC6_HUMAN	.	UPI000012F5E7	SNV	CDC42EP1,missense_variant,p.Asp387Gly,ENST00000249014,;CDC42EP1,downstream_gene_variant,,ENST00000434728,;LGALS2,downstream_gene_variant,,ENST00000416480,;CDC42EP1,downstream_gene_variant,,ENST00000415670,;LGALS2,downstream_gene_variant,,ENST00000215886,;CDC42EP1,downstream_gene_variant,,ENST00000430687,;	1580	204	180	SUCCESS
TCF20	6942	.	GRCh37	22	42608026	42608026	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	42	103	0	ENST00000359486.3:c.3286G>T	p.Glu1096Ter	p.E1096*	ENST00000359486	NM_005650.2	1096	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS14033.1	3286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCCTCTG	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,stop_gained,p.Glu1096Ter,ENST00000335626,;TCF20,stop_gained,p.Glu1096Ter,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	3423	103	98	SUCCESS
A4GALT	53947	.	GRCh37	22	43089164	43089164	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs549273376	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	61	0	ENST00000249005.2:c.794G>A	p.Arg265His	p.R265H	ENST00000249005	NM_017436.4	265	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14041.1	794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCGGATG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53448,Pfam_domain:PF04572,hmmpanther:PTHR12042,hmmpanther:PTHR12042:SF17	.	.	ENSP00000384794	.	2/2	.	.	.	.	.	.	.	.	rs549273376	2/2	PASS	ENST00000401850	Transcript	.	.	ENSG00000128274	18149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.1)	.	A4GAT_HUMAN	A4GALT	HGNC	S6CQT5_HUMAN,S6CPX2_HUMAN,M1KVK7_HUMAN,Q7Z2I1_HUMAN	.	UPI000003FF92	SNV	A4GALT,missense_variant,p.Arg265His,ENST00000381278,;A4GALT,missense_variant,p.Arg265His,ENST00000249005,;A4GALT,missense_variant,p.Arg265His,ENST00000401850,;A4GALT,downstream_gene_variant,,ENST00000483026,;A4GALT,downstream_gene_variant,,ENST00000465765,;	1284	61	52	SUCCESS
GLI2	2736	.	GRCh37	2	121726367	121726367	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768192957	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	132	1	ENST00000361492.4:c.721G>A	p.Ala241Thr	p.A241T	ENST00000361492	NM_005270.4	241	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33283.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACGCCAGC	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	6/14	.	.	.	.	.	.	.	.	rs768192957	6/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.05)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Ala241Thr,ENST00000452319,;GLI2,missense_variant,p.Arg103His,ENST00000360874,;GLI2,missense_variant,p.Ala241Thr,ENST00000361492,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000433812,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000341310,;GLI2,intron_variant,,ENST00000452692,;GLI2,intron_variant,,ENST00000437950,;GLI2,intron_variant,,ENST00000445186,;	781	133	104	SUCCESS
SMPD4	55627	.	GRCh37	2	130914804	130914836	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAGCCGCAAGGGCCACCCACCGTTTGAACTCCT	AAGCCGCAAGGGCCACCCACCGTTTGAACTCCT	TGG	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	AAGCCGCAAGGGCCACCCACCGTTTGAACTCCT	AAGCCGCAAGGGCCACCCACCGTTTGAACTCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	142	38	250	0	ENST00000409031.1:c.1202_1214+20delinsCCA		p.X401_splice	ENST00000409031	NM_017951.4	401		0	.	.	.	.	.	TGG	.	protein_coding	YES	CCDS42751.1	1202-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGGAAGCCGCAAGGGCCACCCACCGTTTGAACTCCTCCAGG	NONE	.	.	.	.	.	ENSP00000386531	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000409031	Transcript	.	.	ENSG00000136699	32949	.	.	HIGH	12/19	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	substitution	SMPD4,splice_donor_variant,,ENST00000339679,;SMPD4,splice_donor_variant,,ENST00000439886,;SMPD4,splice_donor_variant,,ENST00000453750,;SMPD4,splice_donor_variant,,ENST00000351288,;SMPD4,splice_donor_variant,,ENST00000452225,;SMPD4,splice_donor_variant,,ENST00000409031,;SMPD4,splice_donor_variant,,ENST00000443958,;SMPD4,splice_donor_variant,,ENST00000457039,;SMPD4,splice_donor_variant,,ENST00000451542,;SMPD4,splice_donor_variant,,ENST00000431183,;SMPD4,intron_variant,,ENST00000430682,;SMPD4,intron_variant,,ENST00000426662,;SMPD4,upstream_gene_variant,,ENST00000449159,;SMPD4,splice_donor_variant,,ENST00000455548,;SMPD4,intron_variant,,ENST00000473720,;SMPD4,splice_donor_variant,,ENST00000435455,;SMPD4,splice_donor_variant,,ENST00000433118,;SMPD4,splice_donor_variant,,ENST00000454468,;SMPD4,splice_donor_variant,,ENST00000482171,;SMPD4,splice_donor_variant,,ENST00000412570,;SMPD4,upstream_gene_variant,,ENST00000461187,;SMPD4,upstream_gene_variant,,ENST00000491319,;SMPD4,upstream_gene_variant,,ENST00000491128,;SMPD4,downstream_gene_variant,,ENST00000439029,;	2351-?	250	180	SUCCESS
SMPD4	55627	.	GRCh37	2	130914830	130914835	+	inframe_deletion	In_Frame_Del	DEL	AACTCC	AACTCC	-	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	AACTCC	AACTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	78	9	142	0	ENST00000409031.1:c.1203_1208del	p.Glu401_Phe403delinsAsp	p.E401_F403delinsD	ENST00000409031	NM_017951.4	401	gaGGAGTTc/gac	0	.	.	.	.	.	-	EEF/D	protein_coding	YES	CCDS42751.1	1203-1208	INDELOCATOR|VARSCANI	.	CGTTTGAACTCCTCCAG	NONE	.	.	hmmpanther:PTHR12988,Pfam_domain:PF14724	.	.	ENSP00000386531	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000409031	Transcript	.	.	ENSG00000136699	32949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	deletion	SMPD4,inframe_deletion,p.Glu259_Phe261delinsAsp,ENST00000339679,;SMPD4,inframe_deletion,p.Glu230_Phe232delinsAsp,ENST00000439886,;SMPD4,inframe_deletion,p.Glu150_Phe152delinsAsp,ENST00000453750,;SMPD4,inframe_deletion,p.Glu372_Phe374delinsAsp,ENST00000351288,;SMPD4,inframe_deletion,p.Glu142_Phe144delinsAsp,ENST00000452225,;SMPD4,inframe_deletion,p.Glu401_Phe403delinsAsp,ENST00000409031,;SMPD4,inframe_deletion,p.Glu65_Phe67delinsAsp,ENST00000443958,;SMPD4,inframe_deletion,p.Glu149_Phe151delinsAsp,ENST00000451542,;SMPD4,inframe_deletion,p.Glu299_Phe301delinsAsp,ENST00000431183,;SMPD4,intron_variant,,ENST00000430682,;SMPD4,intron_variant,,ENST00000426662,;SMPD4,upstream_gene_variant,,ENST00000449159,;SMPD4,upstream_gene_variant,,ENST00000457039,;SMPD4,non_coding_transcript_exon_variant,,ENST00000455548,;SMPD4,intron_variant,,ENST00000473720,;SMPD4,inframe_deletion,p.Glu65_Phe67delinsAsp,ENST00000435455,;SMPD4,3_prime_UTR_variant,,ENST00000433118,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000412570,;SMPD4,non_coding_transcript_exon_variant,,ENST00000482171,;SMPD4,upstream_gene_variant,,ENST00000461187,;SMPD4,upstream_gene_variant,,ENST00000491319,;SMPD4,upstream_gene_variant,,ENST00000491128,;SMPD4,downstream_gene_variant,,ENST00000439029,;	2352-2357	142	87	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131801932	131801932	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	11	265	0	ENST00000326016.5:c.1660G>A	p.Val554Met	p.V554M	ENST00000326016	NM_015320.3	554	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS2165.1	1660	MUTECT|MUSE	.	TGGAGGTGGTG	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826,PROSITE_profiles:PS50003	.	.	ENSP00000316845	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.598)	.	deleterious(0)	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Val554Met,ENST00000326016,;ARHGEF4,missense_variant,p.Val483Met,ENST00000355771,;ARHGEF4,missense_variant,p.Val554Met,ENST00000392953,;ARHGEF4,missense_variant,p.Val171Met,ENST00000532720,;ARHGEF4,missense_variant,p.Val554Met,ENST00000525839,;ARHGEF4,missense_variant,p.Val494Met,ENST00000409303,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;FAM168B,downstream_gene_variant,,ENST00000409185,;ARHGEF4,downstream_gene_variant,,ENST00000528247,;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000525092,;ARHGEF4,downstream_gene_variant,,ENST00000527365,;	2179	265	215	SUCCESS
MAP3K19	80122	.	GRCh37	2	135741259	135741259	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760013283	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	32	163	0	ENST00000375845.3:c.3209G>T	p.Gly1070Val	p.G1070V	ENST00000375845	NM_025052.3	1070	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2176.2	3209	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCCCTTT	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000365005	.	8/10	.	.	.	.	.	.	.	.	rs760013283	8/10	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,missense_variant,p.Gly252Val,ENST00000375844,;MAP3K19,missense_variant,p.Gly1070Val,ENST00000375845,;MAP3K19,missense_variant,p.Gly460Val,ENST00000437365,;MAP3K19,missense_variant,p.Gly1087Val,ENST00000392915,;MAP3K19,missense_variant,p.Gly957Val,ENST00000358371,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000392917,;MAP3K19,intron_variant,,ENST00000392918,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	3240	163	199	SUCCESS
MAP3K19	80122	.	GRCh37	2	135741322	135741322	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	37	157	0	ENST00000375845.3:c.3146C>G	p.Ser1049Cys	p.S1049C	ENST00000375845	NM_025052.3	1049	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS2176.2	3146	RADIA|MUTECT|MUSE	.	TTTCAGAAAAT	NONE	.	.	hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	.	.	ENSP00000365005	.	8/10	.	.	.	.	.	.	.	.	COSM1399514,COSM1399513	8/10	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	possibly_damaging(0.832)	.	deleterious(0.02)	1,1	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,missense_variant,p.Ser231Cys,ENST00000375844,;MAP3K19,missense_variant,p.Ser1049Cys,ENST00000375845,;MAP3K19,missense_variant,p.Ser231Cys,ENST00000392918,;MAP3K19,missense_variant,p.Ser439Cys,ENST00000437365,;MAP3K19,missense_variant,p.Ser1066Cys,ENST00000392915,;MAP3K19,missense_variant,p.Ser936Cys,ENST00000358371,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000392917,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	3177	157	196	SUCCESS
ZEB2	9839	.	GRCh37	2	145157357	145157357	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	91	194	1	ENST00000409487.3:c.1397T>C	p.Ile466Thr	p.I466T	ENST00000409487		466	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2186.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAATCTGT	NONE	.	.	hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2	.	.	ENSP00000454157	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,missense_variant,p.Ile466Thr,ENST00000427902,;ZEB2,missense_variant,p.Ile442Thr,ENST00000539609,;ZEB2,missense_variant,p.Ile466Thr,ENST00000409487,;ZEB2,missense_variant,p.Ile466Thr,ENST00000303660,;ZEB2,missense_variant,p.Ile466Thr,ENST00000558170,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,downstream_gene_variant,,ENST00000497268,;	2582	195	186	SUCCESS
KIF5C	3800	.	GRCh37	2	149864490	149864490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	71	0	ENST00000435030.1:c.2459A>G	p.Asp820Gly	p.D820G	ENST00000435030		820	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	.	2459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGACAACG	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365	.	.	ENSP00000393379	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.06)	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,missense_variant,p.Asp588Gly,ENST00000397413,;KIF5C,missense_variant,p.Asp820Gly,ENST00000435030,;KIF5C,missense_variant,p.Asp725Gly,ENST00000414838,;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000482151,;	2827	71	69	SUCCESS
LY75	4065	.	GRCh37	2	160755561	160755561	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	30	60	0	ENST00000263636.4:c.104C>A	p.Pro35His	p.P35H	ENST00000263636	NM_002349.3	35	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS56141.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGGGTCA	NONE	.	.	PROSITE_profiles:PS50231,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000423463	.	2/39	.	.	.	.	.	.	.	.	.	2/39	PASS	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Pro35His,ENST00000504764,;LY75,missense_variant,p.Pro35His,ENST00000553424,;LY75,missense_variant,p.Pro35His,ENST00000554112,;LY75,missense_variant,p.Pro35His,ENST00000263636,;LY75-CD302,missense_variant,p.Pro35His,ENST00000505052,;LY75,downstream_gene_variant,,ENST00000492955,;LY75,downstream_gene_variant,,ENST00000471164,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	132	60	45	SUCCESS
FRZB	2487	.	GRCh37	2	183731006	183731006	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	87	0	ENST00000295113.4:c.275A>G	p.Tyr92Cys	p.Y92C	ENST00000295113	NM_001463.3	92	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS2286.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGTACATG	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF76,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000295113	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000295113	Transcript	.	.	ENSG00000162998	3959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SFRP3_HUMAN	FRZB	HGNC	D9ZGF6_HUMAN,Q53QT6_HUMAN,Q53QN4_HUMAN	.	UPI0000051054	SNV	FRZB,missense_variant,p.Tyr92Cys,ENST00000295113,;	885	87	86	SUCCESS
PGAP1	80055	.	GRCh37	2	197761869	197761869	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	448	358	776	0	ENST00000354764.4:c.913G>T	p.Ala305Ser	p.A305S	ENST00000354764	NM_024989.3	305	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2318.1	913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCATCAA	NONE	.	.	hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF15	.	.	ENSP00000346809	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000354764	Transcript	.	.	ENSG00000197121	25712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.23)	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	SNV	PGAP1,missense_variant,p.Ala85Ser,ENST00000374738,;PGAP1,missense_variant,p.Ala305Ser,ENST00000409475,;PGAP1,missense_variant,p.Ala263Ser,ENST00000409188,;PGAP1,missense_variant,p.Ala305Ser,ENST00000354764,;PGAP1,non_coding_transcript_exon_variant,,ENST00000485830,;PGAP1,3_prime_UTR_variant,,ENST00000423035,;PGAP1,non_coding_transcript_exon_variant,,ENST00000470179,;	1028	776	806	SUCCESS
APOB	338	.	GRCh37	2	21231070	21231070	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	48	130	0	ENST00000233242.1:c.8670C>A	p.Phe2890Leu	p.F2890L	ENST00000233242	NM_000384.2	2890	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS1703.1	8670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGGAAGTA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	COSM1614276	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.034)	.	.	1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Phe2890Leu,ENST00000233242,;	8798	130	139	SUCCESS
DNER	92737	.	GRCh37	2	230312120	230312120	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	154	366	0	ENST00000341772.4:c.1398C>T	p.Ala466=	p.A466=	ENST00000341772	NM_139072.3	466	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33390.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGCACA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000345229	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,synonymous_variant,p.%3D,ENST00000341772,;	1533	366	351	SUCCESS
ALPP	250	.	GRCh37	2	233246047	233246047	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149636356	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	312	165	581	1	ENST00000392027.2:c.1279G>A	p.Ala427Thr	p.A427T	ENST00000392027	NM_001632.3	427	Gcc/Acc	0	A:0.0079	.	.	.	.	A	A/T	protein_coding	YES	CCDS2490.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCGCCCGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	.	A:0	ENSP00000375881	.	10/11	.	.	.	.	.	.	.	.	rs149636356	10/11	common_in_exac	ENST00000392027	Transcript	.	.	ENSG00000163283	439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.69)	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,missense_variant,p.Ala427Thr,ENST00000392027,;AC068134.8,intron_variant,,ENST00000441266,;AC068134.8,upstream_gene_variant,,ENST00000439072,;ECEL1P2,downstream_gene_variant,,ENST00000461596,;ALPP,non_coding_transcript_exon_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;	1548	583	478	SUCCESS
TRPM8	79054	.	GRCh37	2	234846104	234846104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	69	142	0	ENST00000324695.4:c.299C>A	p.Thr100Asn	p.T100N	ENST00000324695	NM_024080.4	100	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS33407.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTACCGACG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	.	.	ENSP00000323926	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,missense_variant,p.Thr23Asn,ENST00000409625,;TRPM8,missense_variant,p.Thr100Asn,ENST00000324695,;TRPM8,missense_variant,p.Thr50Asn,ENST00000355722,;TRPM8,5_prime_UTR_variant,,ENST00000433712,;TRPM8,downstream_gene_variant,,ENST00000479332,;TRPM8,missense_variant,p.Thr100Asn,ENST00000444298,;	339	142	152	SUCCESS
ABCG5	64240	.	GRCh37	2	44051474	44051474	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	98	131	0	ENST00000260645.1:c.1002T>G	p.Ile334Met	p.I334M	ENST00000260645	NM_022436.2	334	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1814.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAAATTGC	NONE	.	.	hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF193	.	.	ENSP00000260645	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000260645	Transcript	.	.	ENSG00000138075	13886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious(0.03)	.	ABCG5_HUMAN	ABCG5	HGNC	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN	.	UPI0000046560	SNV	ABCG5,missense_variant,p.Ile163Met,ENST00000405322,;ABCG5,missense_variant,p.Ile334Met,ENST00000260645,;ABCG5,intron_variant,,ENST00000543989,;ABCG5,intron_variant,,ENST00000486512,;ABCG5,intron_variant,,ENST00000409962,;	1142	131	164	SUCCESS
STON1-GTF2A1L	286749	.	GRCh37	2	48809181	48809181	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776975589	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	75	122	0	ENST00000394754.1:c.1409A>G	p.Tyr470Cys	p.Y470C	ENST00000394754	NM_172311.2	470	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1840.1	1409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTATTATG	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,Gene3D:2.60.40.1170,Pfam_domain:PF00928,Superfamily_domains:0038852	.	.	ENSP00000378236	.	2/11	.	.	.	.	.	.	.	.	rs776975589	2/11	PASS	ENST00000394754	Transcript	.	.	ENSG00000068781	30651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.06)	.	.	STON1-GTF2A1L	HGNC	Q53S48_HUMAN	.	UPI000013C976	SNV	STON1-GTF2A1L,missense_variant,p.Tyr470Cys,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Tyr470Cys,ENST00000394754,;STON1,missense_variant,p.Tyr470Cys,ENST00000406226,;STON1-GTF2A1L,missense_variant,p.Tyr470Cys,ENST00000402114,;STON1-GTF2A1L,missense_variant,p.Tyr470Cys,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Tyr470Cys,ENST00000394751,;STON1,missense_variant,p.Tyr470Cys,ENST00000404752,;STON1,missense_variant,p.Tyr470Cys,ENST00000309835,;STON1,upstream_gene_variant,,ENST00000444932,;	1523	122	145	SUCCESS
PLEK	5341	.	GRCh37	2	68592464	68592464	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs370508175	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	102	0	ENST00000234313.7:c.-20C>G		p.*7*	ENST00000234313	NM_002664.2			0	T:0	.	.	.	.	G	.	protein_coding	YES	CCDS1887.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCATCTG	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000234313	.	1/9	.	.	.	.	.	.	.	.	rs370508175	1/9	PASS	ENST00000234313	Transcript	.	.	ENSG00000115956	9070	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLEK_HUMAN	PLEK	HGNC	.	.	UPI00002085C1	SNV	PLEK,5_prime_UTR_variant,,ENST00000234313,;AC015969.3,intron_variant,,ENST00000366218,;	160	102	105	SUCCESS
CMPK2	129607	.	GRCh37	2	6990084	6990084	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754020979	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	41	81	0	ENST00000256722.5:c.1247G>A	p.Arg416Gln	p.R416Q	ENST00000256722	NM_207315.3	416	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS42648.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCGCTGG	NONE	byFrequency	.	hmmpanther:PTHR10344,hmmpanther:PTHR10344:SF2,Pfam_domain:PF02223,Gene3D:3.40.50.300,PIRSF_domain:PIRSF019736,Superfamily_domains:SSF52540	.	.	ENSP00000256722	.	5/5	.	.	.	.	.	.	.	.	rs754020979,COSM1727671	5/5	PASS	ENST00000256722	Transcript	.	.	ENSG00000134326	27015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.876)	.	deleterious(0.01)	0,1	CMPK2_HUMAN	CMPK2	HGNC	I1Z9C7_HUMAN	.	UPI000016014D	SNV	CMPK2,missense_variant,p.Arg416Gln,ENST00000256722,;CMPK2,intron_variant,,ENST00000458098,;CMPK2,downstream_gene_variant,,ENST00000404168,;CMPK2,non_coding_transcript_exon_variant,,ENST00000465619,;CMPK2,non_coding_transcript_exon_variant,,ENST00000491738,;CMPK2,non_coding_transcript_exon_variant,,ENST00000478738,;	1247	81	124	SUCCESS
C2orf42	54980	.	GRCh37	2	70392230	70392230	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	123	0	ENST00000264434.2:c.1347C>T	p.Thr449=	p.T449=	ENST00000264434	NM_017880.1	449	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1899.1	1347	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGGTATC	NONE	.	.	hmmpanther:PTHR13518	.	.	ENSP00000264434	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000264434	Transcript	.	.	ENSG00000115998	26056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB042_HUMAN	C2orf42	HGNC	C9JZF3_HUMAN,C9JV10_HUMAN,C9JS43_HUMAN,C9JKD5_HUMAN,C9JK51_HUMAN,C9JJF4_HUMAN,C9J5U1_HUMAN,C9J4L7_HUMAN	.	UPI0000037CF2	SNV	C2orf42,synonymous_variant,p.%3D,ENST00000420306,;C2orf42,synonymous_variant,p.%3D,ENST00000264434,;	1727	123	111	SUCCESS
LRRTM1	347730	.	GRCh37	2	80529936	80529936	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	103	216	0	ENST00000295057.3:c.1009G>A	p.Asp337Asn	p.D337N	ENST00000295057	NM_178839.4	337	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS1966.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCGTAGC	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Gene3D:3.80.10.10	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	COSM4095938,COSM4095937	2/2	PASS	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.985)	.	deleterious(0.01)	1,1	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,missense_variant,p.Asp337Asn,ENST00000295057,;LRRTM1,missense_variant,p.Asp337Asn,ENST00000409148,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;LRRTM1,downstream_gene_variant,,ENST00000415098,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000416268,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Asp337Asn,ENST00000417012,;LRRTM1,missense_variant,p.Asp337Asn,ENST00000433224,;	1666	216	207	SUCCESS
CNNM4	26504	.	GRCh37	2	97426789	97426789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	167	334	0	ENST00000377075.2:c.53G>T	p.Arg18Leu	p.R18L	ENST00000377075	NM_020184.3	18	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS2024.2	53	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000366275	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000377075	Transcript	.	.	ENSG00000158158	105	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.37)	.	CNNM4_HUMAN	CNNM4	HGNC	.	.	UPI0000207C95	SNV	CNNM4,missense_variant,p.Arg18Leu,ENST00000377075,;	151	334	330	SUCCESS
CNGA3	1261	.	GRCh37	2	98999859	98999859	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	39	99	0	ENST00000272602.2:c.404C>T	p.Pro135Leu	p.P135L	ENST00000272602		135	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2034.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCCTGG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	5/8	.	.	.	.	.	.	.	.	COSM1410186	5/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.049)	.	tolerated(0.08)	1	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Pro139Leu,ENST00000409937,;CNGA3,missense_variant,p.Pro135Leu,ENST00000393504,;CNGA3,missense_variant,p.Pro135Leu,ENST00000272602,;CNGA3,intron_variant,,ENST00000436404,;CNGA3,intron_variant,,ENST00000393503,;	821	99	96	SUCCESS
MYH15	22989	.	GRCh37	3	108140007	108140007	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1171272569	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	36	0	ENST00000273353.3:c.3817G>A	p.Ala1273Thr	p.A1273T	ENST00000273353	NM_014981.1	1273	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43127.1	3817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCAGTTG	NONE	.	.	Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	29/42	.	.	.	.	.	.	.	.	.	29/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.99)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Ala1273Thr,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	3874	36	46	SUCCESS
ACAD11	84129	.	GRCh37	3	132378678	132378678	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	41	0	ENST00000264990.6:c.-83A>T		p.*28*	ENST00000264990	NM_032169.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3076.1	.	MUTECT|MUSE	.	CCCTCTAGAGC	NONE	.	.	.	.	.	ENSP00000348565	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000356232	Transcript	.	.	ENSG00000081307	23230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBA5_HUMAN	UBA5	HGNC	E7EQ61_HUMAN,C9J5W5_HUMAN,C9J0F6_HUMAN	.	UPI0000037C4F	SNV	UBA5,5_prime_UTR_variant,,ENST00000356232,;ACAD11,5_prime_UTR_variant,,ENST00000355458,;ACAD11,5_prime_UTR_variant,,ENST00000545291,;ACAD11,5_prime_UTR_variant,,ENST00000481970,;ACAD11,5_prime_UTR_variant,,ENST00000264990,;UBA5,intron_variant,,ENST00000264991,;UBA5,upstream_gene_variant,,ENST00000473651,;UBA5,upstream_gene_variant,,ENST00000468022,;UBA5,upstream_gene_variant,,ENST00000464068,;UBA5,upstream_gene_variant,,ENST00000493720,;UBA5,upstream_gene_variant,,ENST00000494238,;ACAD11,non_coding_transcript_exon_variant,,ENST00000489991,;UBA5,upstream_gene_variant,,ENST00000480955,;ACAD11,5_prime_UTR_variant,,ENST00000485198,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;NPHP3,intron_variant,,ENST00000471702,;UBA5,upstream_gene_variant,,ENST00000505777,;ACAD11,upstream_gene_variant,,ENST00000496418,;UBA5,upstream_gene_variant,,ENST00000464101,;	369	41	28	SUCCESS
AMOTL2	51421	.	GRCh37	3	134080568	134080568	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs543579880	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	25	62	0	ENST00000422605.2:c.1361G>T	p.Arg454Leu	p.R454L	ENST00000422605		454	cGt/cTt	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS33860.1	1361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCACGCCGC	BUFFER|p.E456K|c.1366G>A|3	by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF3	T:0.001	.	ENSP00000249883	T:0	6/10	.	.	.	.	.	.	.	.	rs543579880	6/10	PASS	ENST00000249883	Transcript	.	T:0.0002	ENSG00000114019	17812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.577)	T:0	deleterious(0.01)	.	AMOL2_HUMAN	AMOTL2	HGNC	D6RJA4_HUMAN,D6RIC7_HUMAN,D6RFG0_HUMAN,D6RF61_HUMAN,D6RCL7_HUMAN,D6RBK2_HUMAN,B3KQD2_HUMAN	.	UPI00001B216C	SNV	AMOTL2,missense_variant,p.Arg512Leu,ENST00000514516,;AMOTL2,missense_variant,p.Arg454Leu,ENST00000249883,;AMOTL2,missense_variant,p.Arg454Leu,ENST00000513145,;AMOTL2,missense_variant,p.Arg454Leu,ENST00000422605,;AMOTL2,non_coding_transcript_exon_variant,,ENST00000506326,;	1675	62	51	SUCCESS
CAPN7	23473	.	GRCh37	3	15262371	15262371	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	235	67	301	0	ENST00000253693.2:c.521G>C	p.Arg174Thr	p.R174T	ENST00000253693	NM_014296.2	174	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS2624.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAGAGCAC	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF22	.	.	ENSP00000253693	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000253693	Transcript	.	.	ENSG00000131375	1484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.59)	.	CAN7_HUMAN	CAPN7	HGNC	.	.	UPI0000038A6D	SNV	CAPN7,missense_variant,p.Arg174Thr,ENST00000253693,;CAPN7,3_prime_UTR_variant,,ENST00000457023,;CAPN7,downstream_gene_variant,,ENST00000418994,;	774	301	302	SUCCESS
FGF12	2257	.	GRCh37	3	192125948	192125948	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	141	0	ENST00000454309.2:c.65A>G	p.Asp22Gly	p.D22G	ENST00000454309	NM_021032.4	22	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3301.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGTCGCTG	NONE	.	.	hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF17	.	.	ENSP00000413496	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000454309	Transcript	.	.	ENSG00000114279	3668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.09)	.	FGF12_HUMAN	FGF12	HGNC	C9JUK8_HUMAN	.	UPI0000003FDD	SNV	FGF12,missense_variant,p.Asp22Gly,ENST00000454309,;FGF12,intron_variant,,ENST00000418610,;FGF12,intron_variant,,ENST00000445105,;FGF12,intron_variant,,ENST00000450716,;FGF12,intron_variant,,ENST00000430714,;FGF12,intron_variant,,ENST00000264730,;FGF12,intron_variant,,ENST00000448795,;	891	142	108	SUCCESS
LSG1	55341	.	GRCh37	3	194369508	194369508	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	102	0	ENST00000265245.5:c.1445T>G	p.Val482Gly	p.V482G	ENST00000265245	NM_018385.2	482	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS33922.1	1445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAACATGT	NONE	.	.	hmmpanther:PTHR11089:SF7,hmmpanther:PTHR11089,Gene3D:1pujA02	.	.	ENSP00000265245	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000265245	Transcript	.	.	ENSG00000041802	25652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	deleterious(0)	.	LSG1_HUMAN	LSG1	HGNC	.	.	UPI0000DBEEC1	SNV	LSG1,missense_variant,p.Val482Gly,ENST00000265245,;LSG1,intron_variant,,ENST00000437613,;AC046143.2,upstream_gene_variant,,ENST00000582474,;AC046143.3,downstream_gene_variant,,ENST00000447139,;LSG1,non_coding_transcript_exon_variant,,ENST00000460584,;LSG1,downstream_gene_variant,,ENST00000461343,;LSG1,upstream_gene_variant,,ENST00000475763,;LSG1,downstream_gene_variant,,ENST00000466391,;	1760	102	90	SUCCESS
ZDHHC19	131540	.	GRCh37	3	195925238	195925238	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	75	136	0	ENST00000296326.3:c.858del	p.Ser287LeufsTer66	p.S287Lfs*66	ENST00000296326	NM_001039617.1	286	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS43190.1	858	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAGAGGGGGA	NONE	.	.	hmmpanther:PTHR22883:SF7,hmmpanther:PTHR22883	.	.	ENSP00000296326	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000296326	Transcript	.	.	ENSG00000163958	20713	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZDH19_HUMAN	ZDHHC19	HGNC	B3KVI1_HUMAN	.	UPI00006BFF56	deletion	ZDHHC19,frameshift_variant,p.Ser287LeufsTer66,ENST00000296326,;Y_RNA,upstream_gene_variant,,ENST00000410403,;ZDHHC19,3_prime_UTR_variant,,ENST00000438232,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000465519,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000460442,;ZDHHC19,intron_variant,,ENST00000397544,;ZDHHC19,downstream_gene_variant,,ENST00000497422,;	938	136	215	SUCCESS
DLG1	1739	.	GRCh37	3	196867115	196867115	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	108	0	ENST00000419354.1:c.708C>A	p.Phe236Leu	p.F236L	ENST00000419354		236	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS3327.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGAAACC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23119,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50156	.	.	ENSP00000345731	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000346964	Transcript	.	.	ENSG00000075711	2900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.38)	.	deleterious(0.03)	.	DLG1_HUMAN	DLG1	HGNC	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN	.	UPI000013CD24	SNV	DLG1,missense_variant,p.Phe89Leu,ENST00000453607,;DLG1,missense_variant,p.Phe120Leu,ENST00000452595,;DLG1,missense_variant,p.Phe203Leu,ENST00000450955,;DLG1,missense_variant,p.Phe203Leu,ENST00000392382,;DLG1,missense_variant,p.Phe203Leu,ENST00000357674,;DLG1,missense_variant,p.Phe185Leu,ENST00000422288,;DLG1,missense_variant,p.Phe236Leu,ENST00000448528,;DLG1,missense_variant,p.Phe236Leu,ENST00000346964,;DLG1,missense_variant,p.Phe120Leu,ENST00000443183,;DLG1,missense_variant,p.Phe236Leu,ENST00000419354,;DLG1,missense_variant,p.Phe45Leu,ENST00000447466,;DLG1,missense_variant,p.Phe185Leu,ENST00000314062,;DLG1,missense_variant,p.Phe236Leu,ENST00000392381,;DLG1,missense_variant,p.Phe185Leu,ENST00000419227,;DLG1,non_coding_transcript_exon_variant,,ENST00000471733,;DLG1,non_coding_transcript_exon_variant,,ENST00000477312,;	898	108	115	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913400	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	65	149	0	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33C|c.98C>G|191,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.987)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	149	136	SUCCESS
ROBO1	6091	.	GRCh37	3	78701014	78701014	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	123	0	ENST00000464233.1:c.2680G>A	p.Val894Met	p.V894M	ENST00000464233	NM_002941.3	894	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS54611.1	2680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACCACAT	NONE	.	.	hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489	.	.	ENSP00000420321	.	19/31	.	.	.	.	.	.	.	.	.	19/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Val894Met,ENST00000464233,;ROBO1,missense_variant,p.Val858Met,ENST00000495273,;ROBO1,missense_variant,p.Val855Met,ENST00000436010,;ROBO1,missense_variant,p.Val858Met,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	2794	123	117	SUCCESS
FGFRL1	53834	.	GRCh37	4	1017449	1017449	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	61	165	0	ENST00000264748.6:c.373G>T	p.Glu125Ter	p.E125*	ENST00000264748	NM_021923.3	125	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS3344.1	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGAGAGC	NONE	.	.	hmmpanther:PTHR19890:SF5,hmmpanther:PTHR19890	.	.	ENSP00000381498	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000398484	Transcript	.	.	ENSG00000127418	3693	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGRL1_HUMAN	FGFRL1	HGNC	D6REM7_HUMAN,D6RBN8_HUMAN,A0PJ49_HUMAN	.	UPI000003ED0B	SNV	FGFRL1,stop_gained,p.Glu125Ter,ENST00000264748,;FGFRL1,stop_gained,p.Glu125Ter,ENST00000398484,;FGFRL1,stop_gained,p.Glu125Ter,ENST00000507339,;FGFRL1,stop_gained,p.Glu125Ter,ENST00000504138,;FGFRL1,stop_gained,p.Glu125Ter,ENST00000510644,;FGFRL1,downstream_gene_variant,,ENST00000512174,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	953	165	102	SUCCESS
PLRG1	5356	.	GRCh37	4	155460255	155460255	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	49	76	0	ENST00000499023.2:c.1151+2T>C		p.X384_splice	ENST00000499023	NM_001201564.1	384		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34083.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTACTGTC	NONE	.	.	.	.	.	ENSP00000424417	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000499023	Transcript	.	.	ENSG00000171566	9089	.	.	HIGH	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLRG1_HUMAN	PLRG1	HGNC	.	.	UPI0000070B39	SNV	PLRG1,splice_donor_variant,,ENST00000302078,;PLRG1,splice_donor_variant,,ENST00000503251,;PLRG1,splice_donor_variant,,ENST00000393905,;PLRG1,splice_donor_variant,,ENST00000499023,;PLRG1,downstream_gene_variant,,ENST00000504341,;RNU6-1285P,downstream_gene_variant,,ENST00000363480,;PLRG1,splice_donor_variant,,ENST00000506627,;PLRG1,non_coding_transcript_exon_variant,,ENST00000507125,;PLRG1,upstream_gene_variant,,ENST00000512773,;PLRG1,downstream_gene_variant,,ENST00000506918,;PLRG1,downstream_gene_variant,,ENST00000506192,;	.	76	84	SUCCESS
PRDM8	56978	.	GRCh37	4	81123578	81123578	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	42	109	0	ENST00000339711.4:c.962C>T	p.Ala321Val	p.A321V	ENST00000339711	NM_020226.3	321	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43243.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF0	.	.	ENSP00000339764	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000339711	Transcript	1	.	ENSG00000152784	13993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.29)	.	PRDM8_HUMAN	PRDM8	HGNC	Q05CA1_HUMAN,E9PEH0_HUMAN	.	UPI0000422A1D	SNV	PRDM8,missense_variant,p.Ala321Val,ENST00000504452,;PRDM8,missense_variant,p.Ala321Val,ENST00000515013,;PRDM8,missense_variant,p.Ala321Val,ENST00000339711,;PRDM8,missense_variant,p.Ala321Val,ENST00000415738,;	2193	109	73	SUCCESS
SPARCL1	8404	.	GRCh37	4	88411474	88411474	+	synonymous_variant	Silent	SNP	C	C	A	rs995267082	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	73	0	ENST00000282470.6:c.1482G>T	p.Gly494=	p.G494=	ENST00000282470	NM_004684.4	494	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3622.1	1482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCCCCTC	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR13866:SF16,hmmpanther:PTHR13866,Pfam_domain:PF00050,Gene3D:3.30.60.30,PIRSF_domain:PIRSF002574,SMART_domains:SM00280,Superfamily_domains:SSF100895	.	.	ENSP00000414856	.	8/12	.	.	.	.	.	.	.	.	COSM3606832	8/12	PASS	ENST00000418378	Transcript	.	.	ENSG00000152583	11220	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SPRL1_HUMAN	SPARCL1	HGNC	F5H4Y3_HUMAN,F5H331_HUMAN,E9PC64_HUMAN,E7EU82_HUMAN,D6RA29_HUMAN,C9JJR8_HUMAN,B4E2Z0_HUMAN	.	UPI000013DCE3	SNV	SPARCL1,synonymous_variant,p.%3D,ENST00000503414,;SPARCL1,synonymous_variant,p.%3D,ENST00000282470,;SPARCL1,synonymous_variant,p.%3D,ENST00000418378,;SPARCL1,downstream_gene_variant,,ENST00000458304,;SPARCL1,downstream_gene_variant,,ENST00000434434,;SPARCL1,downstream_gene_variant,,ENST00000541496,;SPARCL1,downstream_gene_variant,,ENST00000543631,;SPARCL1,downstream_gene_variant,,ENST00000535835,;SPARCL1,downstream_gene_variant,,ENST00000512317,;SPARCL1,downstream_gene_variant,,ENST00000509407,;	2054	73	52	SUCCESS
FBN2	2201	.	GRCh37	5	127595357	127595357	+	synonymous_variant	Silent	SNP	G	G	A	rs140437100	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	64	127	0	ENST00000262464.4:c.8529C>T	p.Ser2843=	p.S2843=	ENST00000262464	NM_001999.3	2843	agC/agT	0	A:0.0002	.	.	.	.	A	S	protein_coding	YES	CCDS34222.1	8529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGCTGTC	BUFFER|p.R2846H|c.8537G>A|3,BUFFER|p.R2846H|c.8537G>A|3	byCluster	.	PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19	.	A:0	ENSP00000424571	.	71/71	.	.	.	.	.	.	.	.	rs140437100,COSM1060296	71/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;	9504	127	133	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140736155	140736155	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	54	102	0	ENST00000571252.1:c.1388A>C	p.Glu463Ala	p.E463A	ENST00000571252	NM_018917.2	463	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS58979.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGAAAACA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	SNV	PCDHGA4,missense_variant,p.Glu463Ala,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	1388	102	118	SUCCESS
DIAPH1	1729	.	GRCh37	5	140908429	140908429	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	94	0	ENST00000389054.3:c.2849T>G	p.Ile950Ser	p.I950S	ENST00000389054		950	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS43374.1	2858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGATATTC	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000381565	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000398557	Transcript	1	.	ENSG00000131504	2876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	DIAP1_HUMAN	DIAPH1	HGNC	Q96IL1_HUMAN,Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E5RJ79_HUMAN,B4DVR3_HUMAN,A0RZB7_HUMAN	.	UPI0000EA87E6	SNV	DIAPH1,missense_variant,p.Ile954Ser,ENST00000253811,;DIAPH1,missense_variant,p.Ile896Ser,ENST00000520569,;DIAPH1,missense_variant,p.Ile944Ser,ENST00000389057,;DIAPH1,missense_variant,p.Ile953Ser,ENST00000398557,;DIAPH1,missense_variant,p.Ile929Ser,ENST00000398562,;DIAPH1,missense_variant,p.Ile941Ser,ENST00000518047,;DIAPH1,missense_variant,p.Ile950Ser,ENST00000389054,;DIAPH1,missense_variant,p.Ile945Ser,ENST00000398566,;DIAPH1,upstream_gene_variant,,ENST00000448451,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000491754,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000518484,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000494967,;DIAPH1,upstream_gene_variant,,ENST00000468119,;DIAPH1,3_prime_UTR_variant,,ENST00000521457,;DIAPH1,upstream_gene_variant,,ENST00000476339,;	2999	94	80	SUCCESS
ATOX1	475	.	GRCh37	5	151138108	151138108	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs752342635	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	323	50	369	0	ENST00000313115.6:c.5C>T	p.Pro2Leu	p.P2L	ENST00000313115	NM_004045.3	2	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47317.1	5	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGGCATG	NONE	byFrequency	.	Gene3D:3.30.70.100,hmmpanther:PTHR22814	.	.	ENSP00000430598	.	2/5	.	.	.	.	.	.	.	.	rs752342635	2/5	PASS	ENST00000524142	Transcript	.	.	ENSG00000177556	798	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.24)	.	ATOX1_HUMAN	ATOX1	HGNC	E5RGN3_HUMAN	.	UPI000000D843	SNV	ATOX1,missense_variant,p.Pro2Leu,ENST00000313115,;ATOX1,missense_variant,p.Pro2Leu,ENST00000522710,;ATOX1,missense_variant,p.Pro2Leu,ENST00000524142,;ATOX1,upstream_gene_variant,,ENST00000520382,;CTB-113P19.3,intron_variant,,ENST00000518182,;	363	369	373	SUCCESS
DOCK2	1794	.	GRCh37	5	169111291	169111291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	110	0	ENST00000256935.8:c.698G>T	p.Arg233Ile	p.R233I	ENST00000256935	NM_004946.2	233	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS4371.1	698	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGAATTG	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	deleterious(0.01)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Arg233Ile,ENST00000256935,;DOCK2,downstream_gene_variant,,ENST00000522138,;DOCK2,missense_variant,p.Arg233Ile,ENST00000524185,;	778	110	81	SUCCESS
DOCK2	1794	.	GRCh37	5	169494540	169494540	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	140	0	ENST00000256935.8:c.4494C>T	p.Ala1498=	p.A1498=	ENST00000256935	NM_004946.2	1498	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4371.1	4494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCCATAGA	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000256935	.	45/52	.	.	.	.	.	.	.	.	.	45/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,synonymous_variant,p.%3D,ENST00000540750,;DOCK2,synonymous_variant,p.%3D,ENST00000256935,;DOCK2,synonymous_variant,p.%3D,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	4574	140	109	SUCCESS
BTN1A1	696	.	GRCh37	6	26508271	26508294	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTTTCTCTTTTGTTGCAGAATGGA	CTTTCTCTTTTGTTGCAGAATGGA	GGG	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	CTTTCTCTTTTGTTGCAGAATGGA	CTTTCTCTTTTGTTGCAGAATGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	69	46	106	0	ENST00000244513.6:c.881-18_886delinsGGG		p.X294_splice	ENST00000244513	NM_001732.2	294		0	.	.	.	.	.	GGG	.	protein_coding	YES	CCDS4614.1	?-886	INDELOCATOR*|VARSCANI*|PINDEL	.	GACTATCTTTCTCTTTTGTTGCAGAATGGAAAAAG	NONE	.	.	.	.	.	ENSP00000244513	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000244513	Transcript	.	.	ENSG00000124557	1135	.	.	HIGH	5/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BT1A1_HUMAN	BTN1A1	HGNC	.	.	UPI000006E521	substitution	BTN1A1,splice_acceptor_variant,,ENST00000244513,;	?-952	106	115	SUCCESS
BTN1A1	696	.	GRCh37	6	26508294	26508294	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749301249	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	44	96	0	ENST00000244513.6:c.886A>G	p.Lys296Glu	p.K296E	ENST00000244513	NM_001732.2	296	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4614.1	886	SOMATICSNIPER|VARSCANS	.	AATGGAAAAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF53,hmmpanther:PTHR24100,Superfamily_domains:SSF49899	.	.	ENSP00000244513	.	6/7	.	.	.	.	.	.	.	.	rs749301249	6/7	PASS	ENST00000244513	Transcript	.	.	ENSG00000124557	1135	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.543)	.	tolerated(0.08)	.	BT1A1_HUMAN	BTN1A1	HGNC	.	.	UPI000006E521	SNV	BTN1A1,missense_variant,p.Lys296Glu,ENST00000244513,;	952	96	106	SUCCESS
MDC1	9656	.	GRCh37	6	30668320	30668320	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	59	184	0	ENST00000376406.3:c.6192C>T	p.Phe2064=	p.F2064=	ENST00000376406	NM_014641.2	2064	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS34384.1	6192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGAACTC	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,synonymous_variant,p.%3D,ENST00000376406,;MDC1,synonymous_variant,p.%3D,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,upstream_gene_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;RPL7P4,upstream_gene_variant,,ENST00000430239,;	6840	185	221	SUCCESS
DNAH8	1769	.	GRCh37	6	38941510	38941510	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	35	91	0	ENST00000359357.3:c.11948C>T	p.Thr3983Ile	p.T3983I	ENST00000359357		3983	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	.	11948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTACCACTG	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229,Low_complexity_(Seg):seg	.	.	ENSP00000352312	.	82/91	.	.	.	.	.	.	.	.	.	82/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Thr3983Ile,ENST00000359357,;DNAH8,missense_variant,p.Thr4188Ile,ENST00000327475,;DNAH8,missense_variant,p.Thr3947Ile,ENST00000441566,;DNAH8,downstream_gene_variant,,ENST00000449981,;	12202	91	132	SUCCESS
GUCA1A	2978	.	GRCh37	6	42123246	42123246	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	48	0	ENST00000053469.4:c.-543G>A		p.*181*	ENST00000053469	NM_000409.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4864.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGGGAAG	NONE	.	.	.	.	.	ENSP00000377784	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000394237	Transcript	.	.	ENSG00000048545	4678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC1A_HUMAN	GUCA1A	HGNC	A6PVH5_HUMAN	.	UPI0000001C22	SNV	GUCA1A,5_prime_UTR_variant,,ENST00000541991,;GUCA1A,5_prime_UTR_variant,,ENST00000394237,;GUCA1A,5_prime_UTR_variant,,ENST00000053469,;GUCA1A,intron_variant,,ENST00000418175,;RP1-139D8.6,upstream_gene_variant,,ENST00000372963,;	63	48	65	SUCCESS
DST	667	.	GRCh37	6	56504967	56504967	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754262548	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	49	80	0	ENST00000244364.6:c.853C>A	p.Leu285Ile	p.L285I	ENST00000244364	NM_015548.4	285	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS47443.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAGATCCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000244364	.	4/84	.	.	.	.	.	.	.	.	rs754262548	4/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,missense_variant,p.Leu285Ile,ENST00000439203,;DST,missense_variant,p.Leu789Ile,ENST00000370754,;DST,missense_variant,p.Leu611Ile,ENST00000370769,;DST,missense_variant,p.Leu611Ile,ENST00000312431,;DST,missense_variant,p.Leu611Ile,ENST00000421834,;DST,missense_variant,p.Leu285Ile,ENST00000446842,;DST,missense_variant,p.Leu285Ile,ENST00000244364,;DST,missense_variant,p.Leu611Ile,ENST00000370788,;DST,missense_variant,p.Leu651Ile,ENST00000520645,;DST,missense_variant,p.Leu611Ile,ENST00000361203,;DST,missense_variant,p.Leu285Ile,ENST00000370765,;DST,missense_variant,p.Leu285Ile,ENST00000518935,;DST,downstream_gene_variant,,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;	1061	80	133	SUCCESS
MMS22L	253714	.	GRCh37	6	97610000	97610000	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs149054595	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	38	70	0	ENST00000275053.4:c.3263G>T	p.Arg1088Leu	p.R1088L	ENST00000275053	NM_198468.2	1088	cGc/cTc	0	T:0.0011	T:0.0045	.	T:0.0014	.	A	R/L	protein_coding	YES	CCDS5039.1	3263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGCGAGGA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF14911	T:0	T:0.0001	ENSP00000275053	T:0	22/25	.	.	.	.	.	.	.	.	rs149054595,COSM199055	22/25	PASS	ENST00000275053	Transcript	.	T:0.0014	ENSG00000146263	21475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.994)	T:0	deleterious(0.01)	0,1	MMS22_HUMAN	MMS22L	HGNC	H9KVD8_HUMAN	.	UPI00003673C9	SNV	MMS22L,missense_variant,p.Arg1088Leu,ENST00000275053,;MMS22L,missense_variant,p.Arg1048Leu,ENST00000369251,;MMS22L,upstream_gene_variant,,ENST00000514790,;	3529	70	46	SUCCESS
MUC17	140453	.	GRCh37	7	100682982	100682982	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	20	95	0	ENST00000306151.4:c.8285C>A	p.Pro2762Gln	p.P2762Q	ENST00000306151	NM_001040105.1	2762	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS34711.1	8285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCAGTGG	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Pro2762Gln,ENST00000306151,;MUC17,missense_variant,p.Pro2762Gln,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	8349	95	106	SUCCESS
GRM8	2918	.	GRCh37	7	126746765	126746765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1193307778	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	53	113	0	ENST00000339582.2:c.512T>C	p.Ile171Thr	p.I171T	ENST00000339582		171	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS5794.1	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTATCTGC	NONE	.	.	hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,PROSITE_patterns:PS00979,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248	.	.	ENSP00000344173	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Ile171Thr,ENST00000339582,;GRM8,missense_variant,p.Ile171Thr,ENST00000444921,;GRM8,missense_variant,p.Ile171Thr,ENST00000358373,;GRM8,missense_variant,p.Ile171Thr,ENST00000457830,;GRM8,missense_variant,p.Ile171Thr,ENST00000405249,;GRM8,upstream_gene_variant,,ENST00000465844,;GRM8,splice_region_variant,,ENST00000473254,;GRM8,splice_region_variant,,ENST00000448250,;GRM8,splice_region_variant,,ENST00000480995,;GRM8,missense_variant,p.Ile171Thr,ENST00000341617,;GRM8,missense_variant,p.Ile171Thr,ENST00000472701,;	1321	113	106	SUCCESS
FLNC	2318	.	GRCh37	7	128485212	128485212	+	synonymous_variant	Silent	SNP	C	C	T	rs765922145	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	43	158	0	ENST00000325888.8:c.3693C>T	p.Gly1231=	p.G1231=	ENST00000325888	NM_001458.4	1231	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43644.1	3693	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGCGGGCA	NONE	byFrequency	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	21/48	.	.	.	.	.	.	.	.	rs765922145,COSM1085364	21/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;FLNC,downstream_gene_variant,,ENST00000388853,;	3954	158	103	SUCCESS
HNRNPA2B1	3181	.	GRCh37	7	26240334	26240334	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	11	0	ENST00000354667.4:c.-137G>A		p.*46*	ENST00000354667	NM_031243.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43557.1	.	MUTECT|MUSE	.	AGGAGCACCTC	NONE	.	.	.	.	.	ENSP00000346694	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000354667	Transcript	.	.	ENSG00000122566	5033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROA2_HUMAN	HNRNPA2B1	HGNC	.	.	UPI000002F091	SNV	HNRNPA2B1,5_prime_UTR_variant,,ENST00000354667,;HNRNPA2B1,5_prime_UTR_variant,,ENST00000356674,;CBX3,upstream_gene_variant,,ENST00000456948,;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000337620,;CBX3,upstream_gene_variant,,ENST00000396386,;CBX3,upstream_gene_variant,,ENST00000497498,;HNRNPA2B1,5_prime_UTR_variant,,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;	33	11	13	SUCCESS
FAM183B	0	.	GRCh37	7	38725598	38725598	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	56	130	0	ENST00000409072.3:c.8G>T	p.Gly3Val	p.G3V	ENST00000409072		3	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	.	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTCCCGCC	NONE	.	.	.	.	.	ENSP00000386657	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000409072	Transcript	.	.	ENSG00000164556	34511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	F183B_HUMAN	FAM183B	HGNC	.	.	UPI000020EE1E	SNV	FAM183B,missense_variant,p.Gly3Val,ENST00000409072,;	943	130	122	SUCCESS
ABCA13	154664	.	GRCh37	7	48315020	48315020	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	92	171	0	ENST00000435803.1:c.5757A>G	p.Lys1919=	p.K1919=	ENST00000435803	NM_152701.3	1919	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47584.1	5757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAATTTTG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	.	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	5781	172	183	SUCCESS
ZPBP	11055	.	GRCh37	7	50121482	50121482	+	synonymous_variant	Silent	SNP	G	G	A	rs1217317082	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	30	0	ENST00000046087.2:c.222C>T	p.Val74=	p.V74=	ENST00000046087	NM_007009.2	74	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5509.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATGACATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15443:SF5,hmmpanther:PTHR15443	.	.	ENSP00000046087	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000046087	Transcript	.	.	ENSG00000042813	15662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZPBP1_HUMAN	ZPBP	HGNC	.	.	UPI0000073BD0	SNV	ZPBP,synonymous_variant,p.%3D,ENST00000419417,;ZPBP,synonymous_variant,p.%3D,ENST00000450231,;ZPBP,synonymous_variant,p.%3D,ENST00000046087,;ZPBP,3_prime_UTR_variant,,ENST00000413331,;	292	30	78	SUCCESS
STX1A	6804	.	GRCh37	7	73119372	73119372	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	22	0	ENST00000222812.3:c.283+108C>T		p.*95*	ENST00000222812	NM_004603.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34655.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGAAAGC	NONE	.	.	.	.	.	ENSP00000222812	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222812	Transcript	.	.	ENSG00000106089	11433	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STX1A_HUMAN	STX1A	HGNC	Q75ME0_HUMAN	.	UPI0000136065	SNV	WBSCR22,3_prime_UTR_variant,,ENST00000423166,;STX1A,intron_variant,,ENST00000395156,;STX1A,intron_variant,,ENST00000395155,;STX1A,intron_variant,,ENST00000222812,;STX1A,intron_variant,,ENST00000395154,;STX1A,intron_variant,,ENST00000496216,;STX1A,intron_variant,,ENST00000470878,;STX1A,upstream_gene_variant,,ENST00000480126,;STX1A,upstream_gene_variant,,ENST00000491645,;STX1A,upstream_gene_variant,,ENST00000484736,;WBSCR22,3_prime_UTR_variant,,ENST00000436944,;STX1A,intron_variant,,ENST00000494245,;STX1A,intron_variant,,ENST00000462135,;STX1A,upstream_gene_variant,,ENST00000491427,;STX1A,upstream_gene_variant,,ENST00000497980,;STX1A,upstream_gene_variant,,ENST00000461441,;	.	22	17	SUCCESS
ABHD11	83451	.	GRCh37	7	73152683	73152692	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTTGGCGA	ATCTTGGCGA	-	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	ATCTTGGCGA	ATCTTGGCGA	.	.	.	.	.	.	.	.	.	.	.	.	.	91	51	237	0	ENST00000222800.3:c.254_263del	p.Ile85ThrfsTer11	p.I85Tfs*11	ENST00000222800	NM_148912.2	85	aTCGCCAAGATc/ac	0	.	.	.	.	.	-	IAKI/X	protein_coding	YES	CCDS5558.1	254-263	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAAGATCTTGGCGATGGAG	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10992:SF768,hmmpanther:PTHR10992	.	.	ENSP00000222800	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000222800	Transcript	.	.	ENSG00000106077	16407	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABHDB_HUMAN	ABHD11	HGNC	D3DXF2_HUMAN	.	UPI0000043658	deletion	ABHD11,frameshift_variant,p.Ile85ThrfsTer11,ENST00000395147,;ABHD11,frameshift_variant,p.Ile78ThrfsTer11,ENST00000437775,;ABHD11,frameshift_variant,p.Ile85ThrfsTer11,ENST00000458339,;ABHD11,frameshift_variant,p.Ile85ThrfsTer11,ENST00000222800,;LINC00035,downstream_gene_variant,,ENST00000427153,;ABHD11,non_coding_transcript_exon_variant,,ENST00000468331,;ABHD11,non_coding_transcript_exon_variant,,ENST00000468998,;ABHD11,non_coding_transcript_exon_variant,,ENST00000480445,;ABHD11,frameshift_variant,p.Ile35ThrfsTer11,ENST00000437891,;ABHD11,frameshift_variant,p.Ile85ThrfsTer227,ENST00000357419,;ABHD11,frameshift_variant,p.Ile66ThrfsTer11,ENST00000412965,;ABHD11,frameshift_variant,p.Ile75ThrfsTer82,ENST00000474130,;ABHD11,non_coding_transcript_exon_variant,,ENST00000497897,;ABHD11,non_coding_transcript_exon_variant,,ENST00000486114,;ABHD11,upstream_gene_variant,,ENST00000462381,;	324-333	237	142	SUCCESS
SEMA3C	10512	.	GRCh37	7	80374265	80374265	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	46	93	0	ENST00000265361.3:c.2201C>T	p.Ala734Val	p.A734V	ENST00000265361	NM_006379.3	734	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5596.1	2201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCCTTT	NONE	.	.	hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036	.	.	ENSP00000265361	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.29)	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,missense_variant,p.Ala734Val,ENST00000265361,;SEMA3C,missense_variant,p.Ala752Val,ENST00000544525,;SEMA3C,missense_variant,p.Ala734Val,ENST00000419255,;	2763	93	106	SUCCESS
MCM7	4176	.	GRCh37	7	99697718	99697718	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs762955038	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	62	113	0	ENST00000303887.5:c.32-2A>G		p.X11_splice	ENST00000303887	NM_001278595.1	11		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5683.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGTAAC	NONE	byFrequency	.	.	.	.	ENSP00000307288	.	.	.	.	.	.	.	.	.	.	rs762955038	.	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	HIGH	1/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,splice_acceptor_variant,,ENST00000425308,;MCM7,splice_acceptor_variant,,ENST00000354230,;MCM7,splice_acceptor_variant,,ENST00000303887,;MCM7,splice_acceptor_variant,,ENST00000343023,;AP4M1,upstream_gene_variant,,ENST00000422582,;AP4M1,upstream_gene_variant,,ENST00000359593,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000421755,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000439416,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,upstream_gene_variant,,ENST00000478501,;MCM7,splice_acceptor_variant,,ENST00000467516,;MCM7,splice_acceptor_variant,,ENST00000463722,;MCM7,splice_acceptor_variant,,ENST00000485286,;MCM7,splice_acceptor_variant,,ENST00000465688,;MCM7,splice_acceptor_variant,,ENST00000489841,;MCM7,non_coding_transcript_exon_variant,,ENST00000465738,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,upstream_gene_variant,,ENST00000493352,;AP4M1,upstream_gene_variant,,ENST00000445208,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,upstream_gene_variant,,ENST00000491245,;MCM7,upstream_gene_variant,,ENST00000477372,;AP4M1,upstream_gene_variant,,ENST00000394061,;AP4M1,upstream_gene_variant,,ENST00000479916,;	.	113	147	SUCCESS
PPP2R2A	5520	.	GRCh37	8	26220351	26220351	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	78	0	ENST00000380737.3:c.789T>C	p.Asp263=	p.D263=	ENST00000380737	NM_002717.3	263	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS55213.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGATAGACA	NONE	.	.	hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF2,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037309,Superfamily_domains:SSF50978,Prints_domain:PR00600	.	.	ENSP00000325074	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000315985	Transcript	.	.	ENSG00000221914	9304	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2ABA_HUMAN	PPP2R2A	HGNC	E5RFR9_HUMAN	.	UPI0000E219EC	SNV	PPP2R2A,synonymous_variant,p.%3D,ENST00000524169,;PPP2R2A,synonymous_variant,p.%3D,ENST00000380737,;PPP2R2A,synonymous_variant,p.%3D,ENST00000315985,;PPP2R2A,downstream_gene_variant,,ENST00000522535,;PPP2R2A,downstream_gene_variant,,ENST00000521557,;PPP2R2A,downstream_gene_variant,,ENST00000523925,;PPP2R2A,downstream_gene_variant,,ENST00000523964,;PPP2R2A,downstream_gene_variant,,ENST00000519636,;PPP2R2A,downstream_gene_variant,,ENST00000520438,;PPP2R2A,downstream_gene_variant,,ENST00000524099,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000518890,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000518215,;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000517754,;PPP2R2A,downstream_gene_variant,,ENST00000521484,;PPP2R2A,upstream_gene_variant,,ENST00000518208,;PPP2R2A,downstream_gene_variant,,ENST00000519439,;PPP2R2A,downstream_gene_variant,,ENST00000518397,;PPP2R2A,downstream_gene_variant,,ENST00000520329,;	850	78	77	SUCCESS
MFHAS1	9258	.	GRCh37	8	8747952	8747952	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	51	0	ENST00000276282.6:c.2617C>A	p.Gln873Lys	p.Q873K	ENST00000276282	NM_004225.2	873	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34844.1	2617	MUTECT|MUSE	.	AGACTGCCCAG	NONE	.	.	.	.	.	ENSP00000276282	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000276282	Transcript	.	.	ENSG00000147324	16982	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.49)	.	MFHA1_HUMAN	MFHAS1	HGNC	.	.	UPI000013DAB6	SNV	MFHAS1,missense_variant,p.Gln873Lys,ENST00000276282,;	3204	51	49	SUCCESS
PIP5KL1	138429	.	GRCh37	9	130688228	130688228	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	68	0	ENST00000388747.4:c.681C>T	p.Arg227=	p.R227=	ENST00000388747	NM_001135219.1	227	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS48030.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAGCGGCT	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086:SF32,hmmpanther:PTHR23086,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104	.	.	ENSP00000373399	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000388747	Transcript	.	.	ENSG00000167103	28711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI5L1_HUMAN	PIP5KL1	HGNC	.	.	UPI0000EDA26F	SNV	PIP5KL1,synonymous_variant,p.%3D,ENST00000388747,;PIP5KL1,synonymous_variant,p.%3D,ENST00000300432,;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000498783,;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000464759,;PIP5KL1,intron_variant,,ENST00000495448,;PIP5KL1,intron_variant,,ENST00000490773,;PIP5KL1,intron_variant,,ENST00000476624,;PIP5KL1,intron_variant,,ENST00000497234,;PIP5KL1,intron_variant,,ENST00000464108,;PIP5KL1,upstream_gene_variant,,ENST00000485562,;PIP5KL1,downstream_gene_variant,,ENST00000492296,;PIP5KL1,upstream_gene_variant,,ENST00000477191,;	726	68	52	SUCCESS
USP20	10868	.	GRCh37	9	132614914	132614914	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	51	116	0	ENST00000315480.4:c.80A>G	p.Lys27Arg	p.K27R	ENST00000315480		27	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS43892.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTAAGGTAA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	.	.	ENSP00000313811	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.37)	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,missense_variant,p.Lys27Arg,ENST00000372429,;USP20,missense_variant,p.Lys27Arg,ENST00000358355,;USP20,missense_variant,p.Lys27Arg,ENST00000315480,;USP20,splice_region_variant,,ENST00000494971,;USP20,non_coding_transcript_exon_variant,,ENST00000491053,;	238	116	117	SUCCESS
PRRC2B	84726	.	GRCh37	9	134323169	134323169	+	synonymous_variant	Silent	SNP	C	C	G	rs569503281	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	79	0	ENST00000357304.4:c.1098C>G	p.Ala366=	p.A366=	ENST00000357304	NM_013318.3	366	gcC/gcG	0	.	T:0.0008	.	T:0	.	G	A	protein_coding	YES	CCDS48044.1	1098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCGATGC	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	T:0	.	ENSP00000349856	T:0	8/31	.	.	.	.	.	.	.	.	rs569503281	8/31	PASS	ENST00000357304	Transcript	.	T:0.0002	ENSG00000130723	28121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,synonymous_variant,p.%3D,ENST00000458550,;PRRC2B,synonymous_variant,p.%3D,ENST00000357304,;PRRC2B,synonymous_variant,p.%3D,ENST00000405995,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,non_coding_transcript_exon_variant,,ENST00000489593,;	1153	79	58	SUCCESS
EGFL7	51162	.	GRCh37	9	139564771	139564771	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	53	128	0	ENST00000308874.7:c.560C>A	p.Pro187His	p.P187H	ENST00000308874		187	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS7002.1	560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCCAACC	NONE	.	.	hmmpanther:PTHR14949:SF21,hmmpanther:PTHR14949	.	.	ENSP00000360764	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000371699	Transcript	.	.	ENSG00000172889	20594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.02)	.	EGFL7_HUMAN	EGFL7	HGNC	R4GMT3_HUMAN	.	UPI0000036A42	SNV	EGFL7,missense_variant,p.Pro187His,ENST00000308874,;EGFL7,missense_variant,p.Pro187His,ENST00000371698,;EGFL7,missense_variant,p.Pro187His,ENST00000371699,;EGFL7,missense_variant,p.Pro187His,ENST00000406555,;AGPAT2,downstream_gene_variant,,ENST00000371696,;EGFL7,downstream_gene_variant,,ENST00000492862,;AGPAT2,downstream_gene_variant,,ENST00000538402,;AGPAT2,downstream_gene_variant,,ENST00000371694,;MIR126,upstream_gene_variant,,ENST00000362291,;EGFL7,non_coding_transcript_exon_variant,,ENST00000492002,;EGFL7,downstream_gene_variant,,ENST00000490469,;AGPAT2,downstream_gene_variant,,ENST00000472820,;	1471	128	124	SUCCESS
EGFL7	51162	.	GRCh37	9	139564772	139564772	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	126	0	ENST00000308874.7:c.561C>A	p.Pro187=	p.P187=	ENST00000308874		187	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7002.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCAACCC	NONE	.	.	hmmpanther:PTHR14949:SF21,hmmpanther:PTHR14949	.	.	ENSP00000360764	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000371699	Transcript	.	.	ENSG00000172889	20594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFL7_HUMAN	EGFL7	HGNC	R4GMT3_HUMAN	.	UPI0000036A42	SNV	EGFL7,synonymous_variant,p.%3D,ENST00000308874,;EGFL7,synonymous_variant,p.%3D,ENST00000371698,;EGFL7,synonymous_variant,p.%3D,ENST00000371699,;EGFL7,synonymous_variant,p.%3D,ENST00000406555,;AGPAT2,downstream_gene_variant,,ENST00000371696,;EGFL7,downstream_gene_variant,,ENST00000492862,;AGPAT2,downstream_gene_variant,,ENST00000538402,;AGPAT2,downstream_gene_variant,,ENST00000371694,;MIR126,upstream_gene_variant,,ENST00000362291,;EGFL7,non_coding_transcript_exon_variant,,ENST00000492002,;EGFL7,downstream_gene_variant,,ENST00000490469,;AGPAT2,downstream_gene_variant,,ENST00000472820,;	1472	126	122	SUCCESS
C9orf24	84688	.	GRCh37	9	34380993	34380993	+	synonymous_variant	Silent	SNP	G	G	T	rs778876533	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	32	59	0	ENST00000297623.2:c.609C>A	p.Gly203=	p.G203=	ENST00000297623	NM_032596.3	203	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6554.1	609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGGCCCGA	NONE	.	.	Pfam_domain:PF15181	.	.	ENSP00000297623	.	5/7	.	.	.	.	.	.	.	.	rs778876533	5/7	PASS	ENST00000297623	Transcript	.	.	ENSG00000164972	19919	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMRP1_HUMAN	C9orf24	HGNC	.	.	UPI000006E5B3	SNV	C9orf24,synonymous_variant,p.%3D,ENST00000379124,;C9orf24,synonymous_variant,p.%3D,ENST00000379133,;C9orf24,synonymous_variant,p.%3D,ENST00000297623,;C9orf24,synonymous_variant,p.%3D,ENST00000379127,;C9orf24,intron_variant,,ENST00000379126,;C9orf24,downstream_gene_variant,,ENST00000444429,;KIAA1161,upstream_gene_variant,,ENST00000297625,;C9orf24,upstream_gene_variant,,ENST00000481295,;	808	59	54	SUCCESS
FBXO10	26267	.	GRCh37	9	37525102	37525102	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	72	0	ENST00000432825.2:c.1774A>T	p.Thr592Ser	p.T592S	ENST00000432825	NM_012166.2	592	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS47966.1	1774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTGATGA	NONE	.	.	hmmpanther:PTHR22990,Pfam_domain:PF13229,SMART_domains:SM00710,SMART_domains:SM00722,Superfamily_domains:SSF51126	.	.	ENSP00000403802	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000432825	Transcript	.	.	ENSG00000147912	13589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	deleterious(0.01)	.	FBX10_HUMAN	FBXO10	HGNC	Q08AL4_HUMAN,F5GXN9_HUMAN	.	UPI00001C1EC6	SNV	FBXO10,missense_variant,p.Thr592Ser,ENST00000432825,;FBXO10,missense_variant,p.Thr117Ser,ENST00000541829,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;FBXO10,non_coding_transcript_exon_variant,,ENST00000543968,;FBXO10,non_coding_transcript_exon_variant,,ENST00000544208,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000541804,;FBXO10,intron_variant,,ENST00000276960,;	1823	72	76	SUCCESS
PGM5	5239	.	GRCh37	9	71006638	71006638	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	58	120	0	ENST00000396396.1:c.886G>T	p.Gly296Trp	p.G296W	ENST00000396396	NM_021965.3	296	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS6622.2	886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGGGGTA	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Gene3D:3.40.120.10,Pfam_domain:PF02879,Superfamily_domains:SSF53738,Superfamily_domains:SSF53738,Prints_domain:PR00509	.	.	ENSP00000379678	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000396396	Transcript	.	.	ENSG00000154330	8908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PGM5_HUMAN	PGM5	HGNC	.	.	UPI0000210ABF	SNV	PGM5,missense_variant,p.Gly296Trp,ENST00000396392,;PGM5,missense_variant,p.Gly296Trp,ENST00000396396,;PGM5,downstream_gene_variant,,ENST00000431583,;RP11-88I18.2,downstream_gene_variant,,ENST00000590767,;PGM5,splice_region_variant,,ENST00000604870,;PGM5,upstream_gene_variant,,ENST00000587852,;	1115	120	133	SUCCESS
PCSK5	5125	.	GRCh37	9	78722181	78722181	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	50	0	ENST00000545128.1:c.1122G>A	p.Leu374=	p.L374=	ENST00000545128	NM_001190482.1	374	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55320.1	1122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTGAGGCA	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743	.	.	ENSP00000446280	.	9/37	.	.	.	.	.	.	.	.	.	9/37	PASS	ENST00000545128	Transcript	.	.	ENSG00000099139	8747	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,synonymous_variant,p.%3D,ENST00000424854,;PCSK5,synonymous_variant,p.%3D,ENST00000376767,;PCSK5,synonymous_variant,p.%3D,ENST00000376752,;PCSK5,synonymous_variant,p.%3D,ENST00000545128,;	1660	50	59	SUCCESS
DMRT3	58524	.	GRCh37	9	990709	990709	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	69	0	ENST00000190165.2:c.1123A>G	p.Thr375Ala	p.T375A	ENST00000190165	NM_021240.3	375	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS6443.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATACTTTG	NONE	.	.	hmmpanther:PTHR12322:SF62,hmmpanther:PTHR12322	.	.	ENSP00000190165	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000190165	Transcript	.	.	ENSG00000064218	13909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious_low_confidence(0.01)	.	DMRT3_HUMAN	DMRT3	HGNC	Q9NRR0_HUMAN	.	UPI0000073634	SNV	DMRT3,missense_variant,p.Thr375Ala,ENST00000190165,;DMRT3,downstream_gene_variant,,ENST00000417254,;	1161	69	73	SUCCESS
GPC4	2239	.	GRCh37	X	132548871	132548871	+	synonymous_variant	Silent	SNP	G	G	A	rs140576988	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	8	251	0	ENST00000370828.3:c.123C>T	p.Gly41=	p.G41=	ENST00000370828	NM_001448.2	41	ggC/ggT	0	A:0	.	.	.	.	A	G	protein_coding	YES	CCDS14637.1	123	MUTECT|MUSE	.	TTGAAGCCTTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10822:SF25,hmmpanther:PTHR10822,Pfam_domain:PF01153	.	A:0.0001	ENSP00000359864	.	1/9	.	.	.	.	.	.	.	.	rs140576988	1/9	PASS	ENST00000370828	Transcript	.	.	ENSG00000076716	4452	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPC4_HUMAN	GPC4	HGNC	B4E2C0_HUMAN	.	UPI0000001C14	SNV	GPC4,synonymous_variant,p.%3D,ENST00000370828,;GPC4,upstream_gene_variant,,ENST00000535467,;	648	251	191	SUCCESS
BCAP31	10134	.	GRCh37	X	152966418	152966418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	65	292	0	ENST00000345046.6:c.715G>A	p.Gly239Ser	p.G239S	ENST00000345046	NM_001256447.1	239	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS48191.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACCATCTA	NONE	.	.	hmmpanther:PTHR12701:SF15,hmmpanther:PTHR12701	.	.	ENSP00000392330	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000458587	Transcript	.	.	ENSG00000185825	16695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	tolerated(0.22)	.	BAP31_HUMAN	BCAP31	HGNC	C9JSP1_HUMAN,C9JQ75_HUMAN,C9JMD7_HUMAN,C9JM14_HUMAN,C9J0M4_HUMAN	.	UPI00001A8439	SNV	BCAP31,missense_variant,p.Gly306Ser,ENST00000458587,;BCAP31,missense_variant,p.Gly239Ser,ENST00000441714,;BCAP31,missense_variant,p.Gly239Ser,ENST00000345046,;BCAP31,downstream_gene_variant,,ENST00000430088,;BCAP31,downstream_gene_variant,,ENST00000423827,;BCAP31,downstream_gene_variant,,ENST00000429550,;BCAP31,downstream_gene_variant,,ENST00000442093,;BCAP31,downstream_gene_variant,,ENST00000416815,;SLC6A8,downstream_gene_variant,,ENST00000253122,;	1346	292	188	SUCCESS
ASB11	140456	.	GRCh37	X	15306022	15306022	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	32	178	0	ENST00000480796.1:c.828G>A	p.Gln276=	p.Q276=	ENST00000480796		276	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS14164.1	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCTGCTC	NONE	.	.	PROSITE_profiles:PS50225,PROSITE_profiles:PS50297,hmmpanther:PTHR24136:SF14,hmmpanther:PTHR24136,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000417914	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000480796	Transcript	.	.	ENSG00000165192	17186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB11_HUMAN	ASB11	HGNC	.	.	UPI00000474F1	SNV	ASB11,synonymous_variant,p.%3D,ENST00000480796,;ASB11,synonymous_variant,p.%3D,ENST00000537676,;ASB11,synonymous_variant,p.%3D,ENST00000380470,;ASB11,synonymous_variant,p.%3D,ENST00000344384,;ASB11,3_prime_UTR_variant,,ENST00000485437,;	879	178	132	SUCCESS
AKAP17A	8227	.	GRCh37	X	1712955	1712955	+	synonymous_variant	Silent	SNP	G	G	A	rs140507021	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	46	184	0	ENST00000313871.3:c.600G>A	p.Thr200=	p.T200=	ENST00000313871	NM_005088.2	200	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14116.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACGGGCCG	NONE	.	.	hmmpanther:PTHR12484:SF2,hmmpanther:PTHR12484,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000324827	.	2/5	.	.	.	.	.	.	.	.	COSM457179,COSM3694484	2/5	common_in_exac	ENST00000313871	Transcript	.	.	ENSG00000197976	18783	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	AK17A_HUMAN	AKAP17A	HGNC	.	.	UPI00001AF072	SNV	AKAP17A,synonymous_variant,p.%3D,ENST00000381261,;AKAP17A,synonymous_variant,p.%3D,ENST00000313871,;AKAP17A,synonymous_variant,p.%3D,ENST00000474361,;	796	184	141	SUCCESS
MAGEB10	139422	.	GRCh37	X	27839801	27839801	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	136	372	0	ENST00000356790.2:c.378C>T	p.Tyr126=	p.Y126=	ENST00000356790	NM_182506.3	126	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS35221.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTACCAAAT	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36,PROSITE_profiles:PS50838	.	.	ENSP00000368304	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356790	Transcript	.	.	ENSG00000177689	25377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGBA_HUMAN	MAGEB10	HGNC	.	.	UPI000013F050	SNV	MAGEB10,synonymous_variant,p.%3D,ENST00000356790,;	623	372	247	SUCCESS
APEX2	27301	.	GRCh37	X	55033096	55033096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	46	253	1	ENST00000374987.3:c.785C>T	p.Ser262Leu	p.S262L	ENST00000374987	NM_014481.3	262	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS14365.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCAGCAG	NONE	.	.	PROSITE_profiles:PS51435,hmmpanther:PTHR22748:SF4,hmmpanther:PTHR22748,Pfam_domain:PF03372,TIGRFAM_domain:TIGR00633,Gene3D:3.60.10.10,Superfamily_domains:SSF56219	.	.	ENSP00000364126	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000374987	Transcript	.	.	ENSG00000169188	17889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	.	deleterious(0.02)	.	APEX2_HUMAN	APEX2	HGNC	E5KN95_HUMAN,B7ZA71_HUMAN	.	UPI0000071F5B	SNV	APEX2,missense_variant,p.Ser262Leu,ENST00000374987,;ALAS2,downstream_gene_variant,,ENST00000396198,;ALAS2,downstream_gene_variant,,ENST00000335854,;ALAS2,downstream_gene_variant,,ENST00000330807,;APEX2,non_coding_transcript_exon_variant,,ENST00000471758,;ALAS2,downstream_gene_variant,,ENST00000498636,;	851	254	169	SUCCESS
TAF1	6872	.	GRCh37	X	70595090	70595090	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	32	146	0	ENST00000373790.4:c.486C>T	p.Pro162=	p.P162=	ENST00000373790	NM_004606.3	162	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14412.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCCCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13900:SF0,hmmpanther:PTHR13900,PIRSF_domain:PIRSF003047	.	.	ENSP00000276072	.	4/38	.	.	.	.	.	.	.	.	.	4/38	PASS	ENST00000276072	Transcript	.	.	ENSG00000147133	11535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF1_HUMAN	TAF1	HGNC	.	.	UPI000013DA9F	SNV	TAF1,synonymous_variant,p.%3D,ENST00000373790,;TAF1,synonymous_variant,p.%3D,ENST00000449580,;TAF1,synonymous_variant,p.%3D,ENST00000276072,;TAF1,synonymous_variant,p.%3D,ENST00000423759,;TAF1,upstream_gene_variant,,ENST00000483365,;	496	146	107	SUCCESS
PSD	5662	.	GRCh37	10	104172332	104172332	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs367759715	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	36	0	ENST00000020673.5:c.1554C>T		p.X518_splice	ENST00000020673	NM_001270966.1	518	agC/agT	0	A:0	A:0.0008	.	A:0	.	A	S	protein_coding	YES	CCDS31272.1	1554	MUTECT|MUSE	.	GGTTCGCTGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115	A:0	A:0.0001	ENSP00000020673	A:0	6/17	.	.	.	.	.	.	.	.	rs367759715	6/17	PASS	ENST00000020673	Transcript	.	A:0.0002	ENSG00000059915	9507	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	PSD1_HUMAN	PSD	HGNC	.	.	UPI0000404928	SNV	PSD,synonymous_variant,p.%3D,ENST00000020673,;PSD,synonymous_variant,p.%3D,ENST00000406432,;PSD,upstream_gene_variant,,ENST00000488194,;PSD,downstream_gene_variant,,ENST00000492902,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,upstream_gene_variant,,ENST00000461698,;	2081	36	41	SUCCESS
SUFU	51684	.	GRCh37	10	104389858	104389858	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	38	106	0	ENST00000369902.3:c.1401G>T	p.Lys467Asn	p.K467N	ENST00000369902	NM_016169.3	467	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7537.1	1401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAGAAGCT	NONE	.	.	hmmpanther:PTHR10928:SF2,hmmpanther:PTHR10928,Pfam_domain:PF12470,PIRSF_domain:PIRSF011844	.	.	ENSP00000358918	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369902	Transcript	1	.	ENSG00000107882	16466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.2)	.	SUFU_HUMAN	SUFU	HGNC	.	.	UPI0000073C79	SNV	SUFU,missense_variant,p.Lys467Asn,ENST00000369902,;	1567	106	150	SUCCESS
ANK3	288	.	GRCh37	10	61830714	61830714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	63	86	0	ENST00000280772.2:c.9925C>A	p.Pro3309Thr	p.P3309T	ENST00000280772	NM_020987.3	3309	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS7258.1	9925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGAACTG	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Pro3309Thr,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	10117	86	126	SUCCESS
BTAF1	9044	.	GRCh37	10	93716306	93716306	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	50	0	ENST00000265990.6:c.723G>A	p.Glu241=	p.E241=	ENST00000265990	NM_003972.2	241	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS7419.1	723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGCCAGA	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	7/38	.	.	.	.	.	.	.	.	.	7/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,synonymous_variant,p.%3D,ENST00000265990,;BTAF1,upstream_gene_variant,,ENST00000471217,;	1031	50	100	SUCCESS
OR5W2	390148	.	GRCh37	11	55681633	55681633	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	64	0	ENST00000344514.1:c.426T>C	p.Tyr142=	p.Y142=	ENST00000344514	NM_001001960.1	142	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS31513.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGATAGCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF58,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000342448	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344514	Transcript	.	.	ENSG00000187612	15299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5W2_HUMAN	OR5W2	HGNC	.	.	UPI0000061E8D	SNV	OR5W2,synonymous_variant,p.%3D,ENST00000344514,;	426	64	85	SUCCESS
FAM111B	374393	.	GRCh37	11	58892023	58892023	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	89	1	ENST00000343597.3:c.453T>C	p.Pro151=	p.P151=	ENST00000343597	NM_198947.3	151	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7972.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTAGTGA	NONE	.	.	hmmpanther:PTHR14389:SF4,hmmpanther:PTHR14389	.	.	ENSP00000341565	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343597	Transcript	.	.	ENSG00000189057	24200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F111B_HUMAN	FAM111B	HGNC	E9PS27_HUMAN	.	UPI00001D77B8	SNV	FAM111B,synonymous_variant,p.%3D,ENST00000534403,;FAM111B,synonymous_variant,p.%3D,ENST00000411426,;FAM111B,synonymous_variant,p.%3D,ENST00000343597,;FAM111B,synonymous_variant,p.%3D,ENST00000529618,;	644	90	119	SUCCESS
WDR74	54663	.	GRCh37	11	62601897	62601897	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	37	0	ENST00000278856.4:c.719+2T>C		p.X240_splice	ENST00000278856		240		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44630.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCACTTGC	NONE	.	.	.	.	.	ENSP00000432119	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000525239	Transcript	.	.	ENSG00000133316	25529	.	.	HIGH	8/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR74_HUMAN	WDR74	HGNC	F5GYL6_HUMAN,E9PS41_HUMAN	.	UPI000013DB9A	SNV	WDR74,splice_donor_variant,,ENST00000525239,;WDR74,splice_donor_variant,,ENST00000311713,;WDR74,splice_donor_variant,,ENST00000278856,;WDR74,splice_donor_variant,,ENST00000525752,;WDR74,splice_donor_variant,,ENST00000529106,;WDR74,upstream_gene_variant,,ENST00000536401,;STX5,upstream_gene_variant,,ENST00000394690,;WDR74,downstream_gene_variant,,ENST00000538098,;STX5,upstream_gene_variant,,ENST00000541317,;STX5,upstream_gene_variant,,ENST00000294179,;STX5,upstream_gene_variant,,ENST00000377897,;RP11-727F15.9,downstream_gene_variant,,ENST00000535867,;RP11-727F15.9,downstream_gene_variant,,ENST00000535817,;WDR74,downstream_gene_variant,,ENST00000540620,;WDR74,splice_donor_variant,,ENST00000544831,;WDR74,splice_donor_variant,,ENST00000542347,;WDR74,splice_donor_variant,,ENST00000543688,;WDR74,non_coding_transcript_exon_variant,,ENST00000541930,;WDR74,downstream_gene_variant,,ENST00000453708,;STX5,upstream_gene_variant,,ENST00000486437,;STX5,upstream_gene_variant,,ENST00000488303,;WDR74,downstream_gene_variant,,ENST00000544953,;STX5,upstream_gene_variant,,ENST00000492066,;WDR74,downstream_gene_variant,,ENST00000538277,;WDR74,downstream_gene_variant,,ENST00000545112,;STX5,upstream_gene_variant,,ENST00000491231,;WDR74,downstream_gene_variant,,ENST00000538150,;	.	37	39	SUCCESS
C11orf95	0	.	GRCh37	11	63533598	63533598	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs376973642	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	35	47	0	ENST00000433688.1:n.337C>T		p.*113*	ENST00000433688				0	A:0	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGTGGTA	NONE	byCluster	.	.	.	A:0.0003	.	.	2/5	.	.	.	.	.	.	.	.	rs376973642	2/5	PASS	ENST00000433688	Transcript	.	.	ENSG00000188070	28449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C11orf95	HGNC	.	.	.	SNV	C11orf95,non_coding_transcript_exon_variant,,ENST00000445014,;C11orf95,non_coding_transcript_exon_variant,,ENST00000433688,;C11orf95,upstream_gene_variant,,ENST00000458348,;C11orf95,upstream_gene_variant,,ENST00000338498,;RP11-466C23.4,downstream_gene_variant,,ENST00000546282,;	337	47	62	SUCCESS
EIF1AD	84285	.	GRCh37	11	65767088	65767088	+	synonymous_variant	Silent	SNP	C	C	T	rs778490397	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	52	107	0	ENST00000312234.2:c.255G>A	p.Ser85=	p.S85=	ENST00000312234	NM_001242483.1	85	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8124.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAACGAGAT	NONE	byFrequency	.	PROSITE_profiles:PS50832,hmmpanther:PTHR21641,Gene3D:2.40.50.140,Pfam_domain:PF01176,SMART_domains:SM00652,Superfamily_domains:SSF50249	.	.	ENSP00000309175	.	4/6	.	.	.	.	.	.	.	.	rs778490397	4/6	PASS	ENST00000312234	Transcript	.	.	ENSG00000175376	28147	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF1A_HUMAN	EIF1AD	HGNC	E9PS76_HUMAN,E9PS30_HUMAN,E9PRR8_HUMAN,E9PNH5_HUMAN,E9PLI6_HUMAN	.	UPI0000070E9C	SNV	EIF1AD,synonymous_variant,p.%3D,ENST00000525767,;EIF1AD,synonymous_variant,p.%3D,ENST00000533544,;EIF1AD,synonymous_variant,p.%3D,ENST00000527249,;EIF1AD,synonymous_variant,p.%3D,ENST00000530462,;EIF1AD,synonymous_variant,p.%3D,ENST00000532707,;EIF1AD,synonymous_variant,p.%3D,ENST00000529964,;EIF1AD,synonymous_variant,p.%3D,ENST00000526451,;EIF1AD,synonymous_variant,p.%3D,ENST00000312234,;BANF1,upstream_gene_variant,,ENST00000533166,;BANF1,upstream_gene_variant,,ENST00000527348,;BANF1,upstream_gene_variant,,ENST00000312175,;BANF1,upstream_gene_variant,,ENST00000445560,;BANF1,upstream_gene_variant,,ENST00000530204,;EIF1AD,downstream_gene_variant,,ENST00000527051,;BANF1,upstream_gene_variant,,ENST00000528648,;BANF1,upstream_gene_variant,,ENST00000524628,;BANF1,upstream_gene_variant,,ENST00000524663,;EIF1AD,3_prime_UTR_variant,,ENST00000529973,;EIF1AD,downstream_gene_variant,,ENST00000526449,;	590	107	118	SUCCESS
OR10A3	26496	.	GRCh37	11	7960500	7960500	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	65	180	1	ENST00000360759.3:c.568G>T	p.Ala190Ser	p.A190S	ENST00000360759	NM_001003745.1	190	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31421.1	568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGCACACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000353988	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360759	Transcript	.	.	ENSG00000170683	8162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	tolerated(0.08)	.	O10A3_HUMAN	OR10A3	HGNC	.	.	UPI00000015AD	SNV	OR10A3,missense_variant,p.Ala190Ser,ENST00000360759,;	642	182	177	SUCCESS
TRPV4	59341	.	GRCh37	12	110238504	110238504	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs138419280	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	43	0	ENST00000261740.2:c.772G>T	p.Val258Leu	p.V258L	ENST00000261740	NM_021625.4	258	Gtg/Ttg	0	T:0.0002	.	.	.	.	A	V/L	protein_coding	YES	CCDS9134.1	772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGAGAA	NONE	byCluster	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR10582:SF4,hmmpanther:PTHR10582,Gene3D:1.25.40.20,Pfam_domain:PF00023,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01768	.	T:0	ENSP00000406191	.	4/15	.	.	.	.	.	.	.	.	rs138419280	4/15	PASS	ENST00000418703	Transcript	.	.	ENSG00000111199	18083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.06)	.	TRPV4_HUMAN	TRPV4	HGNC	F5H6Q4_HUMAN	.	UPI000003BB44	SNV	TRPV4,missense_variant,p.Val258Leu,ENST00000261740,;TRPV4,missense_variant,p.Val258Leu,ENST00000537083,;TRPV4,missense_variant,p.Val258Leu,ENST00000346520,;TRPV4,missense_variant,p.Val258Leu,ENST00000418703,;TRPV4,missense_variant,p.Val224Leu,ENST00000536838,;TRPV4,intron_variant,,ENST00000392719,;TRPV4,intron_variant,,ENST00000544971,;TRPV4,intron_variant,,ENST00000541794,;TRPV4,missense_variant,p.Val258Leu,ENST00000538125,;	867	43	58	SUCCESS
TCTN1	79600	.	GRCh37	12	111080068	111080068	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	52	103	1	ENST00000551590.1:c.1205A>T	p.Gln402Leu	p.Q402L	ENST00000551590		402	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41834.1	1205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCAGACCA	NONE	.	.	hmmpanther:PTHR14611:SF1,hmmpanther:PTHR14611	.	.	ENSP00000380779	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000397659	Transcript	.	.	ENSG00000204852	26113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	tolerated(0.06)	.	TECT1_HUMAN	TCTN1	HGNC	.	.	UPI00006E225F	SNV	TCTN1,missense_variant,p.Gln388Leu,ENST00000397655,;TCTN1,missense_variant,p.Gln402Leu,ENST00000397659,;TCTN1,missense_variant,p.Gln402Leu,ENST00000551590,;HVCN1,intron_variant,,ENST00000548312,;TCTN1,intron_variant,,ENST00000377654,;TCTN1,intron_variant,,ENST00000549123,;TCTN1,downstream_gene_variant,,ENST00000551555,;TCTN1,3_prime_UTR_variant,,ENST00000397656,;TCTN1,3_prime_UTR_variant,,ENST00000495659,;TCTN1,3_prime_UTR_variant,,ENST00000480648,;TCTN1,non_coding_transcript_exon_variant,,ENST00000552038,;TCTN1,intron_variant,,ENST00000463313,;TCTN1,intron_variant,,ENST00000490514,;TCTN1,intron_variant,,ENST00000547461,;TCTN1,intron_variant,,ENST00000464809,;TCTN1,upstream_gene_variant,,ENST00000460357,;TCTN1,upstream_gene_variant,,ENST00000485445,;TCTN1,downstream_gene_variant,,ENST00000482281,;TCTN1,upstream_gene_variant,,ENST00000491068,;	1224	104	128	SUCCESS
HECTD4	283450	.	GRCh37	12	112617070	112617070	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	101	0	ENST00000550722.1:c.10681C>T	p.Gln3561Ter	p.Q3561*	ENST00000550722	NM_001109662.3	3561	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	10681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTGCTCTT	NONE	.	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	63/76	.	.	.	.	.	.	.	.	.	63/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,stop_gained,p.Gln3285Ter,ENST00000430131,;HECTD4,stop_gained,p.Gln3561Ter,ENST00000550722,;HECTD4,stop_gained,p.Gln3535Ter,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000548588,;	11077	101	118	SUCCESS
TBX3	6926	.	GRCh37	12	115118848	115118848	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	76	159	0	ENST00000257566.3:c.493T>A	p.Phe165Ile	p.F165I	ENST00000257566	NM_016569.3	165	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS9176.1	493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAATTTAT	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000257566	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000257566	Transcript	.	.	ENSG00000135111	11602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TBX3_HUMAN	TBX3	HGNC	.	.	UPI0000136AA0	SNV	TBX3,missense_variant,p.Phe165Ile,ENST00000349155,;TBX3,missense_variant,p.Phe165Ile,ENST00000257566,;TBX3,non_coding_transcript_exon_variant,,ENST00000552054,;TBX3,upstream_gene_variant,,ENST00000548503,;	883	159	197	SUCCESS
CLIP1	6249	.	GRCh37	12	122862289	122862289	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	80	0	ENST00000540338.1:c.304T>C	p.Ser102Pro	p.S102P	ENST00000540338		102	Tcg/Ccg	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS58285.1	304	RADIA|SOMATICSNIPER|VARSCANS	.	CACCGAACCAT	NONE	.	.	Superfamily_domains:SSF74924,SMART_domains:SM01052,Pfam_domain:PF01302,Gene3D:2.30.30.190,PROSITE_patterns:PS00845,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF30,PROSITE_profiles:PS50245	.	.	ENSP00000439093	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000540338	Transcript	.	.	ENSG00000130779	10461	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CLIP1_HUMAN	CLIP1	HGNC	F5H367_HUMAN,F5H270_HUMAN	.	UPI0000E00D4E	SNV	CLIP1,missense_variant,p.Ser102Pro,ENST00000535290,;CLIP1,missense_variant,p.Ser102Pro,ENST00000537178,;CLIP1,missense_variant,p.Ser102Pro,ENST00000302528,;CLIP1,missense_variant,p.Ser102Pro,ENST00000361654,;CLIP1,missense_variant,p.Ser102Pro,ENST00000358808,;CLIP1,missense_variant,p.Ser102Pro,ENST00000537004,;CLIP1,missense_variant,p.Ser102Pro,ENST00000540304,;CLIP1,missense_variant,p.Ser102Pro,ENST00000540338,;CLIP1,downstream_gene_variant,,ENST00000539080,;CLIP1,missense_variant,p.Ser102Pro,ENST00000541108,;	346	80	83	SUCCESS
ATP5B	0	.	GRCh37	12	57037707	57037707	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	68	0	ENST00000262030.3:c.521T>C	p.Met174Thr	p.M174T	ENST00000262030	NM_001686.3	174	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS8924.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCATGAAC	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01039,Gene3D:3.40.50.300,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347	.	.	ENSP00000262030	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000262030	Transcript	.	.	ENSG00000110955	830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.41)	.	ATPB_HUMAN	ATP5B	HGNC	Q0QEN7_HUMAN	.	UPI000012644E	SNV	ATP5B,missense_variant,p.Met111Thr,ENST00000552959,;ATP5B,missense_variant,p.Met174Thr,ENST00000552919,;ATP5B,missense_variant,p.Met174Thr,ENST00000262030,;ATP5B,missense_variant,p.Met113Thr,ENST00000551020,;ATP5B,intron_variant,,ENST00000552104,;ATP5B,intron_variant,,ENST00000553007,;ATP5B,upstream_gene_variant,,ENST00000551570,;SNORD59A,downstream_gene_variant,,ENST00000384304,;ATP5B,non_coding_transcript_exon_variant,,ENST00000547250,;ATP5B,intron_variant,,ENST00000547808,;ATP5B,intron_variant,,ENST00000548647,;ATP5B,intron_variant,,ENST00000548474,;ATP5B,upstream_gene_variant,,ENST00000550162,;ATP5B,upstream_gene_variant,,ENST00000551182,;	572	68	73	SUCCESS
ARHGAP9	64333	.	GRCh37	12	57868703	57868703	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	55	0	ENST00000393791.3:c.1606G>T	p.Val536Leu	p.V536L	ENST00000393791	NM_032496.2	536	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS8941.2	1606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACCGTGT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000377380	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000393791	Transcript	.	.	ENSG00000123329	14130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.508)	.	deleterious(0)	.	RHG09_HUMAN	ARHGAP9	HGNC	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN	.	UPI000007131B	SNV	ARHGAP9,missense_variant,p.Val352Leu,ENST00000430041,;ARHGAP9,missense_variant,p.Val6Leu,ENST00000550399,;ARHGAP9,missense_variant,p.Val555Leu,ENST00000356411,;ARHGAP9,missense_variant,p.Val536Leu,ENST00000393791,;ARHGAP9,missense_variant,p.Val615Leu,ENST00000550288,;ARHGAP9,missense_variant,p.Val626Leu,ENST00000393797,;ARHGAP9,missense_variant,p.Val43Leu,ENST00000550130,;ARHGAP9,missense_variant,p.Val536Leu,ENST00000424809,;ARHGAP9,downstream_gene_variant,,ENST00000552604,;GLI1,downstream_gene_variant,,ENST00000228682,;ARHGAP9,downstream_gene_variant,,ENST00000551452,;ARHGAP9,downstream_gene_variant,,ENST00000552249,;GLI1,downstream_gene_variant,,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000549602,;GLI1,downstream_gene_variant,,ENST00000543426,;ARHGAP9,downstream_gene_variant,,ENST00000548139,;GLI1,downstream_gene_variant,,ENST00000546141,;ARHGAP9,downstream_gene_variant,,ENST00000552066,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000547200,;ARHGAP9,downstream_gene_variant,,ENST00000550454,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550440,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000546704,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552953,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000551000,;ARHGAP9,downstream_gene_variant,,ENST00000552420,;ARHGAP9,downstream_gene_variant,,ENST00000551574,;ARHGAP9,downstream_gene_variant,,ENST00000547216,;ARHGAP9,downstream_gene_variant,,ENST00000548148,;	1745	55	64	SUCCESS
RASSF3	283349	.	GRCh37	12	65085254	65085254	+	synonymous_variant	Silent	SNP	C	C	T	rs756092933	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	94	0	ENST00000336061.2:c.462C>T	p.Tyr154=	p.Y154=	ENST00000336061		154	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS8969.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTACGCCTG	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR22738:SF8,hmmpanther:PTHR22738,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000443021	.	4/5	.	.	.	.	.	.	.	.	rs756092933,COSM4044162	4/5	PASS	ENST00000542104	Transcript	.	.	ENSG00000153179	14271	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	RASF3_HUMAN	RASSF3	HGNC	Q496A9_HUMAN	.	UPI00000622AE	SNV	RASSF3,synonymous_variant,p.%3D,ENST00000542104,;RASSF3,synonymous_variant,p.%3D,ENST00000336061,;AC025262.1,downstream_gene_variant,,ENST00000594966,;RASSF3,missense_variant,p.Thr75Met,ENST00000283172,;	582	94	74	SUCCESS
ARHGEF7	8874	.	GRCh37	13	111767970	111767970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	25	0	ENST00000375741.2:c.97G>A	p.Ala33Thr	p.A33T	ENST00000375741	NM_145735.2	33	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45068.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGCGTCG	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826,PROSITE_profiles:PS50021	.	.	ENSP00000364893	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000375741	Transcript	.	.	ENSG00000102606	15607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.94)	.	ARHG7_HUMAN	ARHGEF7	HGNC	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN	.	UPI00002132CC	SNV	ARHGEF7,missense_variant,p.Ala33Thr,ENST00000375739,;ARHGEF7,missense_variant,p.Ala33Thr,ENST00000375741,;ARHGEF7,missense_variant,p.Ala33Thr,ENST00000317133,;ARHGEF7,missense_variant,p.Ala33Thr,ENST00000370623,;ARHGEF7,5_prime_UTR_variant,,ENST00000449979,;ARHGEF7-AS2,non_coding_transcript_exon_variant,,ENST00000425094,;ARHGEF7,non_coding_transcript_exon_variant,,ENST00000422836,;ARHGEF7,intron_variant,,ENST00000483540,;	347	25	19	SUCCESS
UPF3A	65110	.	GRCh37	13	115067260	115067260	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	99	225	0	ENST00000375299.3:c.1062A>G	p.Gln354=	p.Q354=	ENST00000375299	NM_023011.3	354	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS9543.1	1062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAAGAATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF2	.	.	ENSP00000364448	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000375299	Transcript	.	.	ENSG00000169062	20332	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REN3A_HUMAN	UPF3A	HGNC	B3KUE7_HUMAN	.	UPI0000072FCB	SNV	UPF3A,synonymous_variant,p.%3D,ENST00000351487,;UPF3A,synonymous_variant,p.%3D,ENST00000375299,;UPF3A,non_coding_transcript_exon_variant,,ENST00000475218,;UPF3A,non_coding_transcript_exon_variant,,ENST00000474056,;UPF3A,non_coding_transcript_exon_variant,,ENST00000480362,;UPF3A,downstream_gene_variant,,ENST00000493727,;CLCP2,upstream_gene_variant,,ENST00000392050,;	1118	225	236	SUCCESS
MPHOSPH8	54737	.	GRCh37	13	20237193	20237193	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775227679	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	73	0	ENST00000361479.5:c.1946C>T	p.Thr649Ile	p.T649I	ENST00000361479	NM_017520.3	649	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS9287.1	1946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAACAGTGG	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24188:SF6,hmmpanther:PTHR24188,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000355388	.	9/14	.	.	.	.	.	.	.	.	rs775227679	9/14	PASS	ENST00000361479	Transcript	.	.	ENSG00000196199	29810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.13)	.	MPP8_HUMAN	MPHOSPH8	HGNC	.	.	UPI0000051C18	SNV	MPHOSPH8,missense_variant,p.Thr649Ile,ENST00000361479,;MPHOSPH8,missense_variant,p.Thr649Ile,ENST00000414242,;MPHOSPH8,downstream_gene_variant,,ENST00000467481,;	2014	73	69	SUCCESS
METTL17	64745	.	GRCh37	14	21460771	21460771	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	74	0	ENST00000339374.6:c.518C>T	p.Ala173Val	p.A173V	ENST00000339374	NM_001029991.1	173	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS41913.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCATTCC	NONE	.	.	hmmpanther:PTHR21320:SF2,hmmpanther:PTHR21320,Pfam_domain:PF09243,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000372445	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000382985	Transcript	.	.	ENSG00000165792	19280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	tolerated(0.61)	.	MET17_HUMAN	METTL17	HGNC	G3V4P2_HUMAN,G3V3X6_HUMAN,G3V353_HUMAN	.	UPI00001410AF	SNV	METTL17,missense_variant,p.Ala91Val,ENST00000554751,;METTL17,missense_variant,p.Ala173Val,ENST00000556670,;METTL17,missense_variant,p.Ala173Val,ENST00000382985,;METTL17,missense_variant,p.Ala91Val,ENST00000553564,;METTL17,missense_variant,p.Ala91Val,ENST00000555670,;METTL17,missense_variant,p.Ala173Val,ENST00000339374,;METTL17,upstream_gene_variant,,ENST00000556733,;METTL17,downstream_gene_variant,,ENST00000554283,;RP11-84C10.4,downstream_gene_variant,,ENST00000557335,;METTL17,intron_variant,,ENST00000554354,;METTL17,downstream_gene_variant,,ENST00000555177,;METTL17,3_prime_UTR_variant,,ENST00000555533,;METTL17,3_prime_UTR_variant,,ENST00000557550,;METTL17,3_prime_UTR_variant,,ENST00000555640,;METTL17,non_coding_transcript_exon_variant,,ENST00000555902,;METTL17,non_coding_transcript_exon_variant,,ENST00000553441,;METTL17,non_coding_transcript_exon_variant,,ENST00000554985,;METTL17,non_coding_transcript_exon_variant,,ENST00000555390,;METTL17,non_coding_transcript_exon_variant,,ENST00000553536,;METTL17,non_coding_transcript_exon_variant,,ENST00000554588,;METTL17,non_coding_transcript_exon_variant,,ENST00000557279,;METTL17,upstream_gene_variant,,ENST00000554849,;METTL17,upstream_gene_variant,,ENST00000553389,;METTL17,downstream_gene_variant,,ENST00000557701,;METTL17,downstream_gene_variant,,ENST00000554949,;METTL17,downstream_gene_variant,,ENST00000556442,;	541	74	98	SUCCESS
NOVA1	4857	.	GRCh37	14	27064670	27064670	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	35	122	0	ENST00000539517.2:c.226C>T	p.Gln76Ter	p.Q76*	ENST00000539517	NM_002515.2	76	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS32061.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGCAACT	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Pfam_domain:PF00013,Gene3D:3.30.1370.10,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288,PROSITE_profiles:PS50084	.	.	ENSP00000438875	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,stop_gained,p.Gln76Ter,ENST00000574031,;NOVA1,stop_gained,p.Gln76Ter,ENST00000465357,;NOVA1,stop_gained,p.Gln76Ter,ENST00000547619,;NOVA1,stop_gained,p.Gln39Ter,ENST00000549571,;NOVA1,stop_gained,p.Gln76Ter,ENST00000344429,;NOVA1,stop_gained,p.Gln76Ter,ENST00000539517,;NOVA1,stop_gained,p.Gln35Ter,ENST00000449198,;NOVA1,5_prime_UTR_variant,,ENST00000549146,;NOVA1,5_prime_UTR_variant,,ENST00000267422,;NOVA1,5_prime_UTR_variant,,ENST00000347476,;NOVA1-AS1,upstream_gene_variant,,ENST00000547786,;RP11-483C6.1,upstream_gene_variant,,ENST00000572358,;NOVA1,upstream_gene_variant,,ENST00000551754,;NOVA1,stop_gained,p.Gln4Ter,ENST00000546546,;NOVA1,stop_gained,p.Gln76Ter,ENST00000483536,;NOVA1,non_coding_transcript_exon_variant,,ENST00000547415,;	544	122	124	SUCCESS
NRXN3	9369	.	GRCh37	14	80130128	80130128	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	55	121	0	ENST00000557594.1:c.437G>T	p.Gly146Val	p.G146V	ENST00000557594		146	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9870.1	2333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGGAAAA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000451648	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0)	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Gly146Val,ENST00000557594,;NRXN3,missense_variant,p.Gly146Val,ENST00000428277,;NRXN3,missense_variant,p.Gly778Val,ENST00000554719,;NRXN3,missense_variant,p.Gly146Val,ENST00000281127,;NRXN3,missense_variant,p.Gly778Val,ENST00000335750,;RP11-242P2.1,intron_variant,,ENST00000553322,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556003,;NRXN3,non_coding_transcript_exon_variant,,ENST00000555073,;NRXN3,missense_variant,p.Gly146Val,ENST00000555387,;NRXN3,missense_variant,p.Gly1140Val,ENST00000554738,;	2824	121	169	SUCCESS
ADAMTS17	170691	.	GRCh37	15	100821591	100821591	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775686481	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	28	0	ENST00000268070.4:c.632C>T	p.Thr211Met	p.T211M	ENST00000268070	NM_139057.2	211	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS10383.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACGTCGGC	NONE	byFrequency	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF31	.	.	ENSP00000268070	.	4/22	.	.	.	.	.	.	.	.	rs775686481	4/22	PASS	ENST00000268070	Transcript	1	.	ENSG00000140470	17109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.14)	.	ATS17_HUMAN	ADAMTS17	HGNC	.	.	UPI00001AE929	SNV	ADAMTS17,missense_variant,p.Thr211Met,ENST00000268070,;ADAMTS17,3_prime_UTR_variant,,ENST00000558960,;ADAMTS17,non_coding_transcript_exon_variant,,ENST00000378898,;	738	28	44	SUCCESS
MGA	23269	.	GRCh37	15	41988500	41988500	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764153763	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	82	0	ENST00000219905.7:c.1292A>G	p.Asn431Ser	p.N431S	ENST00000219905	NM_001164273.1	431	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS55959.1	1292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAATAAAG	NONE	byFrequency	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	.	.	ENSP00000219905	.	3/24	.	.	.	.	.	.	.	.	rs764153763	3/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.77)	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,missense_variant,p.Asn431Ser,ENST00000219905,;MGA,missense_variant,p.Asn431Ser,ENST00000563576,;MGA,missense_variant,p.Asn431Ser,ENST00000570161,;MGA,missense_variant,p.Asn431Ser,ENST00000545763,;MGA,missense_variant,p.Asn431Ser,ENST00000389936,;MGA,missense_variant,p.Asn431Ser,ENST00000566718,;MGA,missense_variant,p.Asn431Ser,ENST00000566586,;MIR626,downstream_gene_variant,,ENST00000385032,;MGA,non_coding_transcript_exon_variant,,ENST00000568630,;	1473	82	107	SUCCESS
CDAN1	146059	.	GRCh37	15	43020923	43020923	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1231592816	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	42	114	0	ENST00000356231.3:c.2731C>G	p.Pro911Ala	p.P911A	ENST00000356231	NM_138477.2	911	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS32209.1	2731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGGTCTC	NONE	.	.	.	.	.	ENSP00000348564	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000356231	Transcript	1	.	ENSG00000140326	1713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.51)	.	CDAN1_HUMAN	CDAN1	HGNC	H3BM60_HUMAN	.	UPI0000229BCB	SNV	CDAN1,missense_variant,p.Pro911Ala,ENST00000356231,;CDAN1,missense_variant,p.Pro242Ala,ENST00000562465,;CDAN1,upstream_gene_variant,,ENST00000563604,;CDAN1,upstream_gene_variant,,ENST00000565930,;	2755	114	125	SUCCESS
CILP	8483	.	GRCh37	15	65489872	65489872	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs759697816	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	37	108	1	ENST00000261883.4:c.2752G>T	p.Glu918Ter	p.E918*	ENST00000261883	NM_003613.3	918	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS10203.1	2752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCAATCT	NONE	.	.	hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3	.	.	ENSP00000261883	.	9/9	.	.	.	.	.	.	.	.	rs759697816	9/9	PASS	ENST00000261883	Transcript	1	.	ENSG00000138615	1980	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CILP1_HUMAN	CILP	HGNC	.	.	UPI000013D21B	SNV	CILP,stop_gained,p.Glu918Ter,ENST00000261883,;	2919	109	107	SUCCESS
IGDCC4	57722	.	GRCh37	15	65685815	65685815	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs757318390	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	63	1	ENST00000352385.2:c.1769C>A	p.Ser590Ter	p.S590*	ENST00000352385	NM_020962.1	590	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS10206.1	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGAGTTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000319623	.	10/20	.	.	.	.	.	.	.	.	rs757318390	10/20	PASS	ENST00000352385	Transcript	.	.	ENSG00000103742	13770	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGDC4_HUMAN	IGDCC4	HGNC	.	.	UPI000006F31C	SNV	IGDCC4,stop_gained,p.Ser590Ter,ENST00000352385,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;	1979	64	94	SUCCESS
BAIAP3	8938	.	GRCh37	16	1391408	1391408	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	65	158	0	ENST00000324385.5:c.754G>A	p.Gly252Arg	p.G252R	ENST00000324385	NM_003933.4	252	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10434.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTGGACCC	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR15015,hmmpanther:PTHR15015:SF19,PROSITE_profiles:PS50004	.	.	ENSP00000324510	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000324385	Transcript	.	.	ENSG00000007516	948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.892)	.	deleterious(0.02)	.	BAIP3_HUMAN	BAIAP3	HGNC	.	.	UPI0000071E58	SNV	BAIAP3,missense_variant,p.Gly217Arg,ENST00000426824,;BAIAP3,missense_variant,p.Gly194Arg,ENST00000562208,;BAIAP3,missense_variant,p.Gly217Arg,ENST00000421665,;BAIAP3,missense_variant,p.Gly189Arg,ENST00000568887,;BAIAP3,missense_variant,p.Gly234Arg,ENST00000397488,;BAIAP3,missense_variant,p.Gly252Arg,ENST00000324385,;BAIAP3,missense_variant,p.Gly234Arg,ENST00000397489,;BAIAP3,upstream_gene_variant,,ENST00000561793,;BAIAP3,upstream_gene_variant,,ENST00000566162,;BAIAP3,upstream_gene_variant,,ENST00000564213,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,upstream_gene_variant,,ENST00000561602,;BAIAP3,downstream_gene_variant,,ENST00000565665,;BAIAP3,upstream_gene_variant,,ENST00000568198,;	912	158	160	SUCCESS
SMG1	23049	.	GRCh37	16	18861619	18861619	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	75	0	ENST00000446231.2:c.5223C>T	p.Phe1741=	p.F1741=	ENST00000446231		1741	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS45430.1	5223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGAATAT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Superfamily_domains:SSF48371	.	.	ENSP00000402515	.	34/63	.	.	.	.	.	.	.	.	.	34/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,synonymous_variant,p.%3D,ENST00000389467,;SMG1,synonymous_variant,p.%3D,ENST00000565324,;SMG1,synonymous_variant,p.%3D,ENST00000446231,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;SMG1,upstream_gene_variant,,ENST00000562668,;	5636	75	71	SUCCESS
TRAF7	84231	.	GRCh37	16	2224041	2224041	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	46	0	ENST00000326181.6:c.1255A>G	p.Thr419Ala	p.T419A	ENST00000326181	NM_032271.2	419	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10461.1	1255	MUTECT|MUSE	.	ACAAGACCATC	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844:SF164,hmmpanther:PTHR22844,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000318944	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000326181	Transcript	.	.	ENSG00000131653	20456	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0.01)	.	TRAF7_HUMAN	TRAF7	HGNC	H3BR17_HUMAN,D3DU86_HUMAN	.	UPI000014186F	SNV	TRAF7,missense_variant,p.Thr419Ala,ENST00000326181,;CASKIN1,downstream_gene_variant,,ENST00000343516,;TRAF7,downstream_gene_variant,,ENST00000567645,;TRAF7,non_coding_transcript_exon_variant,,ENST00000570169,;TRAF7,downstream_gene_variant,,ENST00000569686,;TRAF7,downstream_gene_variant,,ENST00000564067,;	1387	46	52	SUCCESS
PDIA2	64714	.	GRCh37	16	335324	335324	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	48	0	ENST00000219406.6:c.808A>T	p.Ile270Phe	p.I270F	ENST00000219406	NM_006849.2	270	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS42089.1	808	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGATCTTC	NONE	.	.	hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF75,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,Pfam_domain:PF13848,Superfamily_domains:SSF52833	.	.	ENSP00000219406	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000219406	Transcript	.	.	ENSG00000185615	14180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PDIA2_HUMAN	PDIA2	HGNC	B3KWF3_HUMAN	.	UPI0000131481	SNV	PDIA2,missense_variant,p.Ile267Phe,ENST00000404312,;PDIA2,missense_variant,p.Ile270Phe,ENST00000219406,;AXIN1,downstream_gene_variant,,ENST00000457798,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;ARHGDIG,downstream_gene_variant,,ENST00000219409,;ARHGDIG,downstream_gene_variant,,ENST00000447871,;AXIN1,downstream_gene_variant,,ENST00000262320,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,upstream_gene_variant,,ENST00000435833,;PDIA2,downstream_gene_variant,,ENST00000456379,;AXIN1,downstream_gene_variant,,ENST00000354866,;PDIA2,non_coding_transcript_exon_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000482665,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;AXIN1,downstream_gene_variant,,ENST00000461023,;	826	48	69	SUCCESS
RAB11FIP3	9727	.	GRCh37	16	570189	570197	+	inframe_deletion	In_Frame_Del	DEL	GGGGCCGCA	GGGGCCGCA	-	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	GGGGCCGCA	GGGGCCGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	69	0	ENST00000262305.4:c.1929_1937del	p.Gly644_Ser646del	p.G644_S646del	ENST00000262305	NM_014700.3	643	cGGGGCCGCAgc/cgc	0	.	.	.	.	.	-	RGRS/R	protein_coding	YES	CCDS32351.1	1928-1936	VARSCANI*|PINDEL	.	AGCGGCGGGGCCGCAGCAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF6	.	.	ENSP00000262305	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000262305	Transcript	.	.	ENSG00000090565	17224	1	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFIP3_HUMAN	RAB11FIP3	HGNC	F6X994_HUMAN	.	UPI0000129C9C	deletion	RAB11FIP3,inframe_deletion,p.Gly565_Ser567del,ENST00000434585,;RAB11FIP3,inframe_deletion,p.Gly348_Ser350del,ENST00000450428,;RAB11FIP3,inframe_deletion,p.Gly689_Ser691del,ENST00000457159,;RAB11FIP3,inframe_deletion,p.Gly644_Ser646del,ENST00000262305,;RAB11FIP3,downstream_gene_variant,,ENST00000461009,;RAB11FIP3,downstream_gene_variant,,ENST00000487899,;RAB11FIP3,downstream_gene_variant,,ENST00000464263,;	2316-2324	69	59	SUCCESS
C16orf86	388284	.	GRCh37	16	67701908	67701919	+	inframe_deletion	In_Frame_Del	DEL	AAAAAAGCCAAG	AAAAAAGCCAAG	-	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	AAAAAAGCCAAG	AAAAAAGCCAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	129	0	ENST00000403458.4:c.462_473del	p.Lys155_Lys158del	p.K155_K158del	ENST00000403458	NM_001012984.2	154	AAAAAAGCCAAG/-	0	.	.	.	.	.	-	KKAK/-	protein_coding	YES	CCDS32468.2	460-471	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCACAAAAAAGCCAAGAAGCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000384117	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000403458	Transcript	.	.	ENSG00000159761	33755	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP086_HUMAN	C16orf86	HGNC	.	.	UPI00001982F7	deletion	C16orf86,inframe_deletion,p.Lys155_Lys158del,ENST00000403458,;C16orf86,inframe_deletion,p.Lys155_Lys158del,ENST00000602365,;ENKD1,upstream_gene_variant,,ENST00000243878,;ENKD1,upstream_gene_variant,,ENST00000602644,;C16orf86,non_coding_transcript_exon_variant,,ENST00000602974,;ENKD1,upstream_gene_variant,,ENST00000602409,;C16orf86,3_prime_UTR_variant,,ENST00000445068,;C16orf86,non_coding_transcript_exon_variant,,ENST00000459925,;C16orf86,non_coding_transcript_exon_variant,,ENST00000602987,;ENKD1,upstream_gene_variant,,ENST00000602415,;ENKD1,upstream_gene_variant,,ENST00000602942,;ENKD1,upstream_gene_variant,,ENST00000602642,;ENKD1,upstream_gene_variant,,ENST00000602531,;	615-626	129	104	SUCCESS
SLC12A4	6560	.	GRCh37	16	67985043	67985043	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	59	112	1	ENST00000316341.3:c.1297G>T	p.Gly433Cys	p.G433C	ENST00000316341	NM_001145961.1	433	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS54032.1	1303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCTGTTA	NONE	.	.	Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46,Transmembrane_helices:TMhelix	.	.	ENSP00000395983	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,missense_variant,p.Gly427Cys,ENST00000537830,;SLC12A4,missense_variant,p.Gly402Cys,ENST00000541864,;SLC12A4,missense_variant,p.Gly433Cys,ENST00000576616,;SLC12A4,missense_variant,p.Gly385Cys,ENST00000572037,;SLC12A4,missense_variant,p.Gly433Cys,ENST00000316341,;SLC12A4,missense_variant,p.Gly433Cys,ENST00000338335,;SLC12A4,missense_variant,p.Gly435Cys,ENST00000422611,;SLC12A4,downstream_gene_variant,,ENST00000571299,;SLC12A4,downstream_gene_variant,,ENST00000572010,;SLC12A4,splice_region_variant,,ENST00000573023,;SLC12A4,splice_region_variant,,ENST00000574665,;SLC12A4,splice_region_variant,,ENST00000572766,;SLC12A4,splice_region_variant,,ENST00000576377,;SLC12A4,splice_region_variant,,ENST00000570802,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573702,;SLC12A4,upstream_gene_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,upstream_gene_variant,,ENST00000576513,;	1343	113	132	SUCCESS
FAM211A	0	.	GRCh37	17	16347348	16347348	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770714366	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	42	0	ENST00000470794.1:c.589C>A	p.Leu197Ile	p.L197I	ENST00000470794	NM_001113567.2	197	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS45620.1	589	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAGGTAGC	NONE	.	.	Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000419502	.	4/4	.	.	.	.	.	.	.	.	rs770714366	4/4	PASS	ENST00000470794	Transcript	.	.	ENSG00000181350	32403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	F211A_HUMAN	FAM211A	HGNC	.	.	UPI0000200A49	SNV	FAM211A,missense_variant,p.Leu197Ile,ENST00000470794,;FAM211A,missense_variant,p.Pro158His,ENST00000409083,;FAM211A-AS1,intron_variant,,ENST00000581361,;FAM211A-AS1,intron_variant,,ENST00000483588,;FAM211A-AS1,downstream_gene_variant,,ENST00000391079,;FAM211A-AS1,downstream_gene_variant,,ENST00000384229,;RP11-138I1.3,upstream_gene_variant,,ENST00000585048,;FAM211A-AS1,downstream_gene_variant,,ENST00000365172,;FAM211A-AS1,intron_variant,,ENST00000472367,;FAM211A-AS1,intron_variant,,ENST00000579473,;FAM211A-AS1,intron_variant,,ENST00000581718,;FAM211A-AS1,intron_variant,,ENST00000580770,;FAM211A-AS1,intron_variant,,ENST00000478103,;FAM211A-AS1,intron_variant,,ENST00000584177,;FAM211A-AS1,intron_variant,,ENST00000583400,;FAM211A-AS1,downstream_gene_variant,,ENST00000477249,;FAM211A-AS1,downstream_gene_variant,,ENST00000481027,;FAM211A-AS1,downstream_gene_variant,,ENST00000582911,;FAM211A-AS1,downstream_gene_variant,,ENST00000475947,;FAM211A-AS1,downstream_gene_variant,,ENST00000578380,;FAM211A-AS1,downstream_gene_variant,,ENST00000584926,;FAM211A-AS1,downstream_gene_variant,,ENST00000580180,;FAM211A-AS1,downstream_gene_variant,,ENST00000584141,;FAM211A-AS1,downstream_gene_variant,,ENST00000484836,;FAM211A-AS1,downstream_gene_variant,,ENST00000460249,;FAM211A-AS1,downstream_gene_variant,,ENST00000483140,;FAM211A-AS1,downstream_gene_variant,,ENST00000492250,;FAM211A-AS1,downstream_gene_variant,,ENST00000480811,;FAM211A-AS1,downstream_gene_variant,,ENST00000481898,;FAM211A-AS1,downstream_gene_variant,,ENST00000491009,;FAM211A-AS1,downstream_gene_variant,,ENST00000487066,;FAM211A-AS1,downstream_gene_variant,,ENST00000475953,;FAM211A-AS1,downstream_gene_variant,,ENST00000581913,;FAM211A-AS1,downstream_gene_variant,,ENST00000470491,;FAM211A,non_coding_transcript_exon_variant,,ENST00000409887,;FAM211A-AS1,downstream_gene_variant,,ENST00000497774,;FAM211A-AS1,downstream_gene_variant,,ENST00000578757,;	617	42	41	SUCCESS
USP22	23326	.	GRCh37	17	20921295	20921295	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	49	0	ENST00000261497.4:c.650G>A	p.Ser217Asn	p.S217N	ENST00000261497	NM_015276.1	217	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS42285.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCTGGGG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000261497	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.34)	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,missense_variant,p.Ser112Asn,ENST00000476111,;USP22,missense_variant,p.Ser63Asn,ENST00000582335,;USP22,missense_variant,p.Ser217Asn,ENST00000261497,;USP22,missense_variant,p.Ser205Asn,ENST00000537526,;USP22,downstream_gene_variant,,ENST00000584538,;USP22,non_coding_transcript_exon_variant,,ENST00000577610,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;	854	49	42	SUCCESS
RHOT1	55288	.	GRCh37	17	30469473	30469473	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs753704561,rs775802553	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	33	1	ENST00000333942.6:c.-239G>A		p.*80*	ENST00000333942	NM_018307.3	89		0	.	.	.	.	.	A	R/W	protein_coding	YES	.	265	SOMATICSNIPER|VARSCANS	.	TCCCCGCCGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000381813	.	2/2	.	.	.	.	.	.	.	.	rs753704561,rs775802553	2/2	common_in_exac	ENST00000398832	Transcript	.	.	ENSG00000214708	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.833)	.	deleterious_low_confidence(0)	.	.	AC090616.2	Clone_based_vega_gene	A8MZ04_HUMAN	.	UPI0000E59F09	SNV	AC090616.2,missense_variant,p.Arg89Trp,ENST00000398832,;RHOT1,5_prime_UTR_variant,,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000354266,;RHOT1,upstream_gene_variant,,ENST00000583994,;RHOT1,upstream_gene_variant,,ENST00000581094,;RHOT1,upstream_gene_variant,,ENST00000394692,;RHOT1,upstream_gene_variant,,ENST00000358365,;RHOT1,upstream_gene_variant,,ENST00000545287,;RHOT1,upstream_gene_variant,,ENST00000580976,;RHOT1,upstream_gene_variant,,ENST00000581031,;RHOT1,upstream_gene_variant,,ENST00000578205,;	371	34	51	SUCCESS
RHOT1	55288	.	GRCh37	17	30469474	30469474	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	25	32	1	ENST00000333942.6:c.-238C>A		p.*80*	ENST00000333942	NM_018307.3	88		0	.	.	.	.	.	A	R	protein_coding	YES	.	264	SOMATICSNIPER|VARSCANS	.	CCCCGCCGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398832	Transcript	.	.	ENSG00000214708	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC090616.2	Clone_based_vega_gene	A8MZ04_HUMAN	.	UPI0000E59F09	SNV	AC090616.2,synonymous_variant,p.%3D,ENST00000398832,;RHOT1,5_prime_UTR_variant,,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000354266,;RHOT1,upstream_gene_variant,,ENST00000583994,;RHOT1,upstream_gene_variant,,ENST00000581094,;RHOT1,upstream_gene_variant,,ENST00000394692,;RHOT1,upstream_gene_variant,,ENST00000358365,;RHOT1,upstream_gene_variant,,ENST00000545287,;RHOT1,upstream_gene_variant,,ENST00000580976,;RHOT1,upstream_gene_variant,,ENST00000581031,;RHOT1,upstream_gene_variant,,ENST00000578205,;	370	33	45	SUCCESS
LASP1	3927	.	GRCh37	17	37074888	37074888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	33	98	0	ENST00000318008.6:c.643G>A	p.Ala215Thr	p.A215T	ENST00000318008	NM_006148.3	215	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11331.1	643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGCCGCC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR11039,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000325240	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000318008	Transcript	.	.	ENSG00000002834	6513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LASP1_HUMAN	LASP1	HGNC	C9J9W2_HUMAN	.	UPI0000046841	SNV	LASP1,missense_variant,p.Ala159Thr,ENST00000433206,;LASP1,missense_variant,p.Ala215Thr,ENST00000435347,;LASP1,missense_variant,p.Ala215Thr,ENST00000318008,;LASP1,downstream_gene_variant,,ENST00000579123,;LASP1,downstream_gene_variant,,ENST00000419929,;RP1-56K13.3,downstream_gene_variant,,ENST00000580121,;LASP1,3_prime_UTR_variant,,ENST00000443937,;LASP1,3_prime_UTR_variant,,ENST00000585841,;LASP1,downstream_gene_variant,,ENST00000581485,;	974	98	128	SUCCESS
CAMKK1	84254	.	GRCh37	17	3769111	3769111	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	10	0	ENST00000348335.2:c.1445+91G>A		p.*482*	ENST00000348335	NM_032294.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11039.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CTTGGCCCAAC	NONE	.	.	.	.	.	ENSP00000158166	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000158166	Transcript	.	.	ENSG00000004660	1469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KKCC1_HUMAN	CAMKK1	HGNC	.	.	UPI0000141119	SNV	CAMKK1,3_prime_UTR_variant,,ENST00000158166,;CAMKK1,intron_variant,,ENST00000381769,;CAMKK1,intron_variant,,ENST00000381771,;CAMKK1,intron_variant,,ENST00000348335,;	1799	10	13	SUCCESS
KRT35	3886	.	GRCh37	17	39635730	39635730	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	60	68	0	ENST00000393989.1:c.580C>A	p.Gln194Lys	p.Q194K	ENST00000393989	NM_002280.4	194	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS11394.2	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGCCGCA	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF109,Pfam_domain:PF00038	.	.	ENSP00000377558	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000393989	Transcript	.	.	ENSG00000197079	6453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.393)	.	deleterious(0.03)	.	KRT35_HUMAN	KRT35	HGNC	C4AM86_HUMAN	.	UPI0000D74C4B	SNV	KRT35,missense_variant,p.Gln164Lys,ENST00000246639,;KRT35,missense_variant,p.Gln194Lys,ENST00000393989,;	623	68	107	SUCCESS
RUNDC3A	10900	.	GRCh37	17	42386028	42386028	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	10	0	ENST00000426726.3:c.-173G>A		p.*58*	ENST00000426726	NM_001144825.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45698.1	.	RADIA|MUTECT|MUSE	.	TCGCCGCCGGG	NONE	.	.	.	.	.	ENSP00000410862	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000426726	Transcript	.	.	ENSG00000108309	16984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RUN3A_HUMAN	RUNDC3A	HGNC	.	.	UPI0000EE7B82	SNV	RUNDC3A,5_prime_UTR_variant,,ENST00000426726,;RUNDC3A,5_prime_UTR_variant,,ENST00000225441,;RUNDC3A,5_prime_UTR_variant,,ENST00000590941,;U3,downstream_gene_variant,,ENST00000408569,;RNU6-453P,downstream_gene_variant,,ENST00000516819,;AC003102.3,intron_variant,,ENST00000588097,;AC003102.3,upstream_gene_variant,,ENST00000586388,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;RUNDC3A,upstream_gene_variant,,ENST00000587483,;	102	10	11	SUCCESS
NPEPPS	9520	.	GRCh37	17	45608617	45608621	+	5_prime_UTR_variant	5'UTR	DEL	CCCCA	CCCCA	-	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	CCCCA	CCCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	26	0	ENST00000322157.4:c.-50_-46del		p.*17*	ENST00000322157	NM_006310.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45721.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGCCCCCCAGGCTC	NONE	.	.	.	.	.	ENSP00000320324	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000322157	Transcript	.	.	ENSG00000141279	7900	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSA_HUMAN	NPEPPS	HGNC	E9PJ74_HUMAN,B7Z1H4_HUMAN	.	UPI0000140D51	deletion	NPEPPS,5_prime_UTR_variant,,ENST00000322157,;NPEPPS,intron_variant,,ENST00000525007,;NPEPPS,intron_variant,,ENST00000530173,;NPEPPS,upstream_gene_variant,,ENST00000544660,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000533573,;NPEPPS,intron_variant,,ENST00000528751,;NPEPPS,intron_variant,,ENST00000525037,;NPEPPS,intron_variant,,ENST00000526247,;NPEPPS,intron_variant,,ENST00000532729,;NPEPPS,upstream_gene_variant,,ENST00000527298,;NPEPPS,upstream_gene_variant,,ENST00000534691,;	188-192	26	35	SUCCESS
MED13	9969	.	GRCh37	17	60028267	60028267	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	117	106	1	ENST00000397786.2:c.6210A>T	p.Ser2070=	p.S2070=	ENST00000397786	NM_005121.2	2070	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42366.1	6210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTTGATAC	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950,Pfam_domain:PF06333	.	.	ENSP00000380888	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,synonymous_variant,p.%3D,ENST00000397786,;MED13,downstream_gene_variant,,ENST00000582786,;	6287	108	186	SUCCESS
ALYREF	10189	.	GRCh37	17	79848595	79848595	+	synonymous_variant	Silent	SNP	C	C	T	rs759837859	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	58	56	0	ENST00000331204.4:c.339G>A	p.Leu113=	p.L113=	ENST00000331204	NM_005782.3	113	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32768.2	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCAGATT	NONE	byFrequency	.	PROSITE_profiles:PS50102,hmmpanther:PTHR19965,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000421592	.	2/6	.	.	.	.	.	.	.	.	rs759837859	2/6	PASS	ENST00000505490	Transcript	.	.	ENSG00000183684	19071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ALYREF	HGNC	E9PB61_HUMAN	.	UPI00001AFE08	SNV	ALYREF,synonymous_variant,p.%3D,ENST00000331204,;ALYREF,synonymous_variant,p.%3D,ENST00000505490,;ANAPC11,upstream_gene_variant,,ENST00000357385,;ANAPC11,upstream_gene_variant,,ENST00000578544,;ANAPC11,upstream_gene_variant,,ENST00000585259,;ANAPC11,upstream_gene_variant,,ENST00000575195,;ANAPC11,upstream_gene_variant,,ENST00000583839,;ANAPC11,upstream_gene_variant,,ENST00000584197,;ANAPC11,upstream_gene_variant,,ENST00000577747,;ANAPC11,upstream_gene_variant,,ENST00000574924,;ANAPC11,upstream_gene_variant,,ENST00000571570,;ANAPC11,upstream_gene_variant,,ENST00000571874,;ANAPC11,upstream_gene_variant,,ENST00000579133,;ANAPC11,upstream_gene_variant,,ENST00000572851,;ANAPC11,upstream_gene_variant,,ENST00000584314,;ANAPC11,upstream_gene_variant,,ENST00000582222,;ANAPC11,upstream_gene_variant,,ENST00000571024,;ANAPC11,upstream_gene_variant,,ENST00000578550,;ANAPC11,upstream_gene_variant,,ENST00000344877,;ANAPC11,upstream_gene_variant,,ENST00000579978,;ANAPC11,upstream_gene_variant,,ENST00000577425,;ANAPC11,upstream_gene_variant,,ENST00000392376,;ANAPC11,upstream_gene_variant,,ENST00000572639,;ALYREF,non_coding_transcript_exon_variant,,ENST00000512673,;ALYREF,upstream_gene_variant,,ENST00000504015,;ALYREF,non_coding_transcript_exon_variant,,ENST00000511412,;	366	56	116	SUCCESS
KEAP1	9817	.	GRCh37	19	10610366	10610366	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	71	2	ENST00000171111.5:c.344T>A	p.Leu115Gln	p.L115Q	ENST00000171111	NM_203500.1	115	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12239.1	344	SOMATICSNIPER|VARSCANS	.	CCCGCAGCCCG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Leu115Gln,ENST00000591419,;KEAP1,missense_variant,p.Leu115Gln,ENST00000591039,;KEAP1,missense_variant,p.Leu115Gln,ENST00000393623,;KEAP1,missense_variant,p.Leu115Gln,ENST00000171111,;KEAP1,missense_variant,p.Leu115Gln,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	892	73	79	SUCCESS
PODNL1	79883	.	GRCh37	19	14044164	14044164	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763293497	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	52	83	1	ENST00000339560.5:c.893G>A	p.Arg298His	p.R298H	ENST00000339560	NM_024825.3	298	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12300.1	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCGGTTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52047	.	.	ENSP00000345175	.	8/8	.	.	.	.	.	.	.	.	rs763293497	8/8	PASS	ENST00000339560	Transcript	.	.	ENSG00000132000	26275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.21)	.	PONL1_HUMAN	PODNL1	HGNC	.	.	UPI0000366D47	SNV	PODNL1,missense_variant,p.Arg207His,ENST00000538517,;PODNL1,missense_variant,p.Arg135His,ENST00000588764,;PODNL1,missense_variant,p.Arg298His,ENST00000339560,;PODNL1,missense_variant,p.Arg127His,ENST00000586075,;PODNL1,missense_variant,p.Arg216His,ENST00000254320,;PODNL1,missense_variant,p.Arg114His,ENST00000591353,;PODNL1,missense_variant,p.Arg296His,ENST00000538371,;CC2D1A,downstream_gene_variant,,ENST00000589606,;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,downstream_gene_variant,,ENST00000585607,;CC2D1A,downstream_gene_variant,,ENST00000318003,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;CC2D1A,downstream_gene_variant,,ENST00000589138,;	1167	84	132	SUCCESS
CD97	0	.	GRCh37	19	14517933	14517933	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	60	0	ENST00000242786.5:c.2268C>G	p.Gly756=	p.G756=	ENST00000242786	NM_078481.3	756	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32929.1	2268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCCTGTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF253,Pfam_domain:PF00002,Superfamily_domains:SSF81321	.	.	ENSP00000242786	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000242786	Transcript	.	.	ENSG00000123146	1711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD97_HUMAN	CD97	HGNC	.	.	UPI0000161C9A	SNV	CD97,synonymous_variant,p.%3D,ENST00000242786,;CD97,synonymous_variant,p.%3D,ENST00000357355,;CD97,synonymous_variant,p.%3D,ENST00000358600,;DDX39A,downstream_gene_variant,,ENST00000454233,;DDX39A,downstream_gene_variant,,ENST00000242776,;DDX39A,downstream_gene_variant,,ENST00000586993,;DDX39A,downstream_gene_variant,,ENST00000589675,;DDX39A,downstream_gene_variant,,ENST00000590315,;DDX39A,downstream_gene_variant,,ENST00000590239,;CTC-548K16.5,intron_variant,,ENST00000590626,;DDX39A,downstream_gene_variant,,ENST00000592927,;DDX39A,downstream_gene_variant,,ENST00000589318,;DDX39A,downstream_gene_variant,,ENST00000588542,;DDX39A,downstream_gene_variant,,ENST00000592391,;DDX39A,downstream_gene_variant,,ENST00000588692,;DDX39A,downstream_gene_variant,,ENST00000590260,;CD97,downstream_gene_variant,,ENST00000591565,;DDX39A,downstream_gene_variant,,ENST00000587730,;DDX39A,downstream_gene_variant,,ENST00000586558,;DDX39A,downstream_gene_variant,,ENST00000590556,;DDX39A,downstream_gene_variant,,ENST00000324340,;DDX39A,downstream_gene_variant,,ENST00000593026,;	2348	60	66	SUCCESS
QPCTL	54814	.	GRCh37	19	46196071	46196071	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	52	94	0	ENST00000012049.5:c.110C>T	p.Pro37Leu	p.P37L	ENST00000012049	NM_017659.3	37	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12672.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCCTCTGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF3	.	.	ENSP00000012049	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000012049	Transcript	.	.	ENSG00000011478	25952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.61)	.	QPCTL_HUMAN	QPCTL	HGNC	.	.	UPI000013C51F	SNV	QPCTL,missense_variant,p.Pro37Leu,ENST00000366382,;QPCTL,missense_variant,p.Pro37Leu,ENST00000012049,;SNRPD2,upstream_gene_variant,,ENST00000588301,;SNRPD2,upstream_gene_variant,,ENST00000587367,;SNRPD2,upstream_gene_variant,,ENST00000391932,;SNRPD2,upstream_gene_variant,,ENST00000585392,;SNRPD2,upstream_gene_variant,,ENST00000588599,;SNRPD2,upstream_gene_variant,,ENST00000342669,;SNRPD2,upstream_gene_variant,,ENST00000590212,;SNRPD2,upstream_gene_variant,,ENST00000587579,;QPCTL,missense_variant,p.Pro19Leu,ENST00000591606,;	331	94	110	SUCCESS
BAX	581	.	GRCh37	19	49459465	49459465	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760733803	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	88	0	ENST00000345358.7:c.244G>T	p.Ala82Ser	p.A82S	ENST00000345358	NM_138764.4	82	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS12744.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCGCCGTG	NONE	byFrequency	.	PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF8,hmmpanther:PTHR11256,Gene3D:1.10.437.10,Pfam_domain:PF00452,SMART_domains:SM00337,Superfamily_domains:SSF56854	.	.	ENSP00000293288	.	4/5	.	.	.	.	.	.	.	.	rs760733803	4/5	PASS	ENST00000293288	Transcript	.	.	ENSG00000087088	959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.85)	.	BAX_HUMAN	BAX	HGNC	Q9UEI8_HUMAN,Q8WXU1_HUMAN,Q5ZPJ1_HUMAN,I6LPK7_HUMAN	.	UPI000000D900	SNV	BAX,missense_variant,p.Ala82Ser,ENST00000539787,;BAX,missense_variant,p.Ala82Ser,ENST00000345358,;BAX,missense_variant,p.Ala82Ser,ENST00000415969,;BAX,missense_variant,p.Ala33Ser,ENST00000354470,;BAX,missense_variant,p.Ala82Ser,ENST00000293288,;BAX,missense_variant,p.Ala16Ser,ENST00000506183,;BAX,3_prime_UTR_variant,,ENST00000391871,;BAX,missense_variant,p.Ala82Ser,ENST00000356483,;BAX,3_prime_UTR_variant,,ENST00000515540,;BAX,non_coding_transcript_exon_variant,,ENST00000513545,;BAX,non_coding_transcript_exon_variant,,ENST00000502487,;BAX,non_coding_transcript_exon_variant,,ENST00000503726,;BAX,non_coding_transcript_exon_variant,,ENST00000513217,;	244	88	64	SUCCESS
TSKS	60385	.	GRCh37	19	50250010	50250010	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	45	0	ENST00000246801.3:c.709C>T	p.Arg237Ter	p.R237*	ENST00000246801	NM_021733.1	237	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS12780.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCGCGGCG	NONE	.	.	hmmpanther:PTHR14351:SF1,hmmpanther:PTHR14351,Pfam_domain:PF15358	.	.	ENSP00000246801	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000246801	Transcript	.	.	ENSG00000126467	30719	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSKS_HUMAN	TSKS	HGNC	.	.	UPI000007272E	SNV	TSKS,stop_gained,p.Arg237Ter,ENST00000246801,;TSKS,stop_gained,p.Arg37Ter,ENST00000358830,;	792	45	39	SUCCESS
ZNF587	84914	.	GRCh37	19	58361385	58361385	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs772512985	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	64	136	0	ENST00000339656.5:c.-22C>T		p.*8*	ENST00000339656	NM_032828.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12964.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCCGTGC	NONE	.	.	.	.	.	ENSP00000345479	.	1/3	.	.	.	.	.	.	.	.	rs772512985	1/3	PASS	ENST00000339656	Transcript	.	.	ENSG00000198466	30955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN587_HUMAN	ZNF587	HGNC	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0QXF5_HUMAN,E7EP41_HUMAN	.	UPI0000073916	SNV	ZNF587,5_prime_UTR_variant,,ENST00000423137,;ZNF587,5_prime_UTR_variant,,ENST00000339656,;CTD-2583A14.10,intron_variant,,ENST00000598031,;CTD-2583A14.10,intron_variant,,ENST00000597134,;ZNF587B,intron_variant,,ENST00000316462,;CTD-2583A14.10,intron_variant,,ENST00000593873,;CTD-2583A14.10,intron_variant,,ENST00000596498,;CTD-2583A14.10,intron_variant,,ENST00000603271,;ZNF814,downstream_gene_variant,,ENST00000597342,;ZNF814,downstream_gene_variant,,ENST00000596604,;ZNF587B,downstream_gene_variant,,ENST00000442832,;ZNF814,downstream_gene_variant,,ENST00000597832,;ZNF814,non_coding_transcript_exon_variant,,ENST00000597652,;ZNF587,non_coding_transcript_exon_variant,,ENST00000484707,;CTD-2583A14.10,intron_variant,,ENST00000604231,;ZNF814,downstream_gene_variant,,ENST00000595894,;	161	136	180	SUCCESS
NRAS	4893	.	GRCh37	1	115256529	115256529	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs11554290	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	26	85	0	ENST00000369535.4:c.182A>G	p.Gln61Arg	p.Q61R	ENST00000369535	NM_002524.4	61	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS877.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTGTCCA	SITE|p.Q61R|c.182A>G|1096,CODON|p.Q61L|c.182_183AA>TG|3,CODON|p.Q61H|c.183A>T|77,CODON|p.Q61Q|c.183A>G|4,CODON|p.Q61H|c.183A>C|43,CODON|p.Q61L|c.181_182CA>TT|3,CODON|p.Q61R|c.181_182CA>AG|4,CODON|p.Q61K|c.180_181AC>TA|3,CODON|p.Q61P|c.182A>C|23,CODON|p.Q61L|c.182A>T|242,BUFFER|p.S65C|c.193A>T|3,BUFFER|p.E62Q|c.184G>C|4,BUFFER|p.Q61E|c.181C>G|10,BUFFER|p.Q61K|c.181C>A|790,BUFFER|p.G60E|c.179G>A|7,BUFFER|p.A59D|c.176C>A|3,BUFFER|p.A59T|c.175G>A|5,BUFFER|p.T58T|c.174A>G|3	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF189,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000358548	.	3/7	.	.	.	.	.	.	.	.	COSM584,COSM583,COSM582	3/7	PASS	ENST00000369535	Transcript	.	.	ENSG00000213281	7989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.006)	.	tolerated(0.06)	1,1,1	RASN_HUMAN	NRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,Q5U091_HUMAN,P78460_HUMAN	.	UPI0000001254	SNV	NRAS,missense_variant,p.Gln61Arg,ENST00000369535,;CSDE1,downstream_gene_variant,,ENST00000369530,;CSDE1,downstream_gene_variant,,ENST00000261443,;CSDE1,downstream_gene_variant,,ENST00000358528,;CSDE1,downstream_gene_variant,,ENST00000339438,;CSDE1,downstream_gene_variant,,ENST00000530886,;CSDE1,downstream_gene_variant,,ENST00000534699,;CSDE1,downstream_gene_variant,,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000483407,;	436	85	97	SUCCESS
MIB2	142678	.	GRCh37	1	1558785	1558785	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759642700	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	51	133	0	ENST00000505820.2:c.298C>G	p.Pro100Ala	p.P100A	ENST00000505820		100	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS41224.2	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCCACC	NONE	byFrequency	.	.	.	.	ENSP00000426103	.	3/20	.	.	.	.	.	.	.	.	rs759642700	3/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.45)	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,missense_variant,p.Pro100Ala,ENST00000518681,;MIB2,missense_variant,p.Pro100Ala,ENST00000520777,;MIB2,missense_variant,p.Pro100Ala,ENST00000505820,;MIB2,missense_variant,p.Pro43Ala,ENST00000357210,;MIB2,missense_variant,p.Pro43Ala,ENST00000378710,;MIB2,missense_variant,p.Pro43Ala,ENST00000360522,;MIB2,5_prime_UTR_variant,,ENST00000504599,;MIB2,intron_variant,,ENST00000503789,;MIB2,intron_variant,,ENST00000378712,;MIB2,intron_variant,,ENST00000355826,;MIB2,intron_variant,,ENST00000510793,;MIB2,intron_variant,,ENST00000378708,;MIB2,upstream_gene_variant,,ENST00000514234,;MIB2,non_coding_transcript_exon_variant,,ENST00000512004,;MIB2,missense_variant,p.Pro43Ala,ENST00000489635,;MIB2,5_prime_UTR_variant,,ENST00000487053,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,intron_variant,,ENST00000506488,;MIB2,intron_variant,,ENST00000514363,;MIB2,intron_variant,,ENST00000479659,;MIB2,intron_variant,,ENST00000502470,;MIB2,upstream_gene_variant,,ENST00000467597,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,upstream_gene_variant,,ENST00000505370,;MIB2,upstream_gene_variant,,ENST00000508148,;MIB2,upstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000477990,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,upstream_gene_variant,,ENST00000508455,;	315	133	139	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156914158	156914158	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	30	67	0	ENST00000361409.2:c.2939A>T	p.Lys980Met	p.K980M	ENST00000361409	NM_014784.3	980	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS1163.1	3059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCTTATCC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50003,hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000357177	.	31/41	.	.	.	.	.	.	.	.	.	31/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,missense_variant,p.Lys980Met,ENST00000361409,;ARHGEF11,missense_variant,p.Lys396Met,ENST00000315174,;ARHGEF11,missense_variant,p.Lys1020Met,ENST00000368194,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000492592,;ARHGEF11,downstream_gene_variant,,ENST00000461678,;	4099	67	135	SUCCESS
KIRREL	0	.	GRCh37	1	158054355	158054355	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	57	170	1	ENST00000359209.6:c.496G>C	p.Ala166Pro	p.A166P	ENST00000359209		166	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS1172.2	496	RADIA|MUTECT|MUSE	.	AGGGCGCTGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11640:SF14,hmmpanther:PTHR11640,Pfam_domain:PF08205,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352138	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.495)	.	deleterious(0.03)	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,missense_variant,p.Ala166Pro,ENST00000368173,;KIRREL,missense_variant,p.Ala66Pro,ENST00000416935,;KIRREL,missense_variant,p.Ala166Pro,ENST00000359209,;KIRREL,intron_variant,,ENST00000360089,;KIRREL,intron_variant,,ENST00000392272,;KIRREL,upstream_gene_variant,,ENST00000368172,;	563	171	274	SUCCESS
UCK2	7371	.	GRCh37	1	165796934	165796946	+	5_prime_UTR_variant	5'UTR	DEL	TCGCAGGCGAGCG	TCGCAGGCGAGCG	-	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	TCGCAGGCGAGCG	TCGCAGGCGAGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	37	0	ENST00000367879.4:c.-137_-125del		p.*46*	ENST00000367879	NM_012474.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1252.1	.	INDELOCATOR*|PINDEL	.	AGCGGCTCGCAGGCGAGCGACAGC	NONE	.	.	.	.	.	ENSP00000356853	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000367879	Transcript	.	.	ENSG00000143179	12562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UCK2_HUMAN	UCK2	HGNC	.	.	UPI000003AFFE	deletion	UCK2,5_prime_UTR_variant,,ENST00000367879,;TMCO1,5_prime_UTR_variant,,ENST00000580248,;UCK2,upstream_gene_variant,,ENST00000372212,;	167-179	37	83	SUCCESS
RASAL2	9462	.	GRCh37	1	178427542	178427542	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368617203	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	31	87	0	ENST00000462775.1:c.2692G>A	p.Gly898Arg	p.G898R	ENST00000462775	NM_004841.3	898	Ggg/Agg	0	A:0.0002	A:0	.	A:0.0014	.	A	G/R	protein_coding	YES	CCDS1321.2	3115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGGGAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF12004	A:0	A:0	ENSP00000356621	A:0	14/18	.	.	.	.	.	.	.	.	rs368617203,COSM145848,COSM145849,COSM1316944	14/18	PASS	ENST00000367649	Transcript	.	A:0.0002	ENSG00000075391	9874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.927)	A:0	tolerated(0.22)	0,1,1,1	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,missense_variant,p.Gly898Arg,ENST00000462775,;RASAL2,missense_variant,p.Gly1039Arg,ENST00000367649,;RASAL2,missense_variant,p.Gly1028Arg,ENST00000448150,;RASAL2,missense_variant,p.Gly449Arg,ENST00000433130,;RASAL2,downstream_gene_variant,,ENST00000463079,;	3467	87	161	SUCCESS
NPHS2	7827	.	GRCh37	1	179544879	179544879	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764350609	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	34	0	ENST00000367615.4:c.121G>A	p.Ala41Thr	p.A41T	ENST00000367615	NM_014625.2	41	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS1331.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCTCCT	NONE	.	.	hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF23	.	.	ENSP00000356587	.	1/8	.	.	.	.	.	.	.	.	rs764350609	1/8	PASS	ENST00000367615	Transcript	.	.	ENSG00000116218	13394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.37)	.	PODO_HUMAN	NPHS2	HGNC	.	.	UPI000003F549	SNV	NPHS2,missense_variant,p.Ala41Thr,ENST00000367616,;NPHS2,missense_variant,p.Ala41Thr,ENST00000367615,;RNU5F-2P,upstream_gene_variant,,ENST00000516066,;	190	34	43	SUCCESS
C1orf186	0	.	GRCh37	1	206240158	206240158	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	44	124	1	ENST00000331555.5:c.294C>T	p.Ser98=	p.S98=	ENST00000331555	NM_001007544.2	98	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS30995.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGAGCT	BUFFER|p.S101L|c.302C>T|3	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000356093	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000331555	Transcript	.	.	ENSG00000196533	25341	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA186_HUMAN	C1orf186	HGNC	.	.	UPI0000039E60	SNV	C1orf186,synonymous_variant,p.%3D,ENST00000331555,;	933	125	222	SUCCESS
SYT14	255928	.	GRCh37	1	210273550	210273550	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs267598355	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	573	145	316	1	ENST00000472886.1:c.908T>C	p.Val303Ala	p.V303A	ENST00000472886		303	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS53469.1	1043	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	CCTTGTTCTTC	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF209,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000389039	.	7/10	.	.	.	.	.	.	.	.	rs267598355	7/10	PASS	ENST00000422431	Transcript	.	.	ENSG00000143469	23143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.951)	.	deleterious(0.02)	.	SYT14_HUMAN	SYT14	HGNC	A1L3Y1_HUMAN	.	UPI0001639EBD	SNV	SYT14,missense_variant,p.Val303Ala,ENST00000399639,;SYT14,missense_variant,p.Val303Ala,ENST00000472886,;SYT14,missense_variant,p.Val303Ala,ENST00000534859,;SYT14,missense_variant,p.Val348Ala,ENST00000422431,;SYT14,missense_variant,p.Val265Ala,ENST00000367015,;SYT14,missense_variant,p.Val303Ala,ENST00000367019,;SYT14,missense_variant,p.Val265Ala,ENST00000537238,;SYT14,non_coding_transcript_exon_variant,,ENST00000469604,;SYT14,intron_variant,,ENST00000271745,;	1101	317	718	SUCCESS
ITPKB	3707	.	GRCh37	1	226895478	226895478	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	298	11	180	0	ENST00000272117.3:c.1932+27750A>G		p.*644*	ENST00000272117				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1555.1	.	MUTECT|MUSE	.	AGCACTTAGAC	NONE	.	.	.	.	.	ENSP00000411152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,3_prime_UTR_variant,,ENST00000366784,;ITPKB,intron_variant,,ENST00000272117,;ITPKB,intron_variant,,ENST00000429204,;	.	180	309	SUCCESS
MRPL55	128308	.	GRCh37	1	228295710	228295710	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	99	121	0	ENST00000295008.4:c.27-140C>G		p.*9*	ENST00000295008	NM_181464.2	34		0	.	.	.	.	.	C	G	protein_coding	YES	CCDS44325.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGCCTCG	NONE	.	.	.	.	.	ENSP00000355692	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000366731	Transcript	.	.	ENSG00000162910	16686	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM55_HUMAN	MRPL55	HGNC	.	.	UPI0000048F52	SNV	MRPL55,synonymous_variant,p.%3D,ENST00000366731,;MRPL55,synonymous_variant,p.%3D,ENST00000366738,;MRPL55,synonymous_variant,p.%3D,ENST00000430433,;MRPL55,intron_variant,,ENST00000366746,;MRPL55,intron_variant,,ENST00000366747,;MRPL55,intron_variant,,ENST00000336300,;MRPL55,intron_variant,,ENST00000366736,;MRPL55,intron_variant,,ENST00000366733,;MRPL55,intron_variant,,ENST00000366732,;MRPL55,intron_variant,,ENST00000366741,;MRPL55,intron_variant,,ENST00000391867,;MRPL55,intron_variant,,ENST00000366742,;MRPL55,intron_variant,,ENST00000366740,;MRPL55,intron_variant,,ENST00000457264,;MRPL55,intron_variant,,ENST00000336520,;MRPL55,intron_variant,,ENST00000366734,;MRPL55,intron_variant,,ENST00000366739,;MRPL55,intron_variant,,ENST00000366735,;MRPL55,intron_variant,,ENST00000366744,;MRPL55,intron_variant,,ENST00000348259,;MRPL55,intron_variant,,ENST00000295008,;MRPL55,intron_variant,,ENST00000411464,;C1orf35,upstream_gene_variant,,ENST00000272139,;MRPL55,non_coding_transcript_exon_variant,,ENST00000465397,;MRPL55,non_coding_transcript_exon_variant,,ENST00000497758,;MRPL55,non_coding_transcript_exon_variant,,ENST00000465268,;MRPL55,non_coding_transcript_exon_variant,,ENST00000459783,;MRPL55,intron_variant,,ENST00000463898,;MRPL55,intron_variant,,ENST00000464148,;MRPL55,downstream_gene_variant,,ENST00000473066,;MRPL55,downstream_gene_variant,,ENST00000475832,;MRPL55,downstream_gene_variant,,ENST00000495434,;C1orf35,upstream_gene_variant,,ENST00000469781,;MRPL55,downstream_gene_variant,,ENST00000483159,;MRPL55,downstream_gene_variant,,ENST00000489430,;C1orf35,upstream_gene_variant,,ENST00000465199,;C1orf35,upstream_gene_variant,,ENST00000491293,;C1orf35,upstream_gene_variant,,ENST00000472617,;MRPL55,downstream_gene_variant,,ENST00000476267,;MRPL55,downstream_gene_variant,,ENST00000495899,;MRPL55,downstream_gene_variant,,ENST00000492170,;C1orf35,upstream_gene_variant,,ENST00000485896,;	896	121	220	SUCCESS
OBSCN	84033	.	GRCh37	1	228504446	228504446	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772937553	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	10	113	0	ENST00000422127.1:c.13322C>T	p.Ala4441Val	p.A4441V	ENST00000422127	NM_001098623.2	4441	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS59204.1	16193	MUTECT|MUSE	.	AAACGCGGCGG	NONE	byFrequency	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	62/116	.	.	.	.	.	.	.	.	rs772937553	62/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Ala2075Val,ENST00000366707,;OBSCN,missense_variant,p.Ala1560Val,ENST00000366709,;OBSCN,missense_variant,p.Ala4441Val,ENST00000284548,;OBSCN,missense_variant,p.Ala4441Val,ENST00000422127,;OBSCN,missense_variant,p.Ala5398Val,ENST00000570156,;	16267	113	226	SUCCESS
FOXD2	2306	.	GRCh37	1	47904970	47904970	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1187970225	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	11	0	ENST00000334793.5:c.1163G>T	p.Arg388Leu	p.R388L	ENST00000334793	NM_004474.3	388	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS30708.1	1163	RADIA|MUTECT|MUSE	.	TCTGCGCCAGG	NONE	.	.	hmmpanther:PTHR11829:SF85,hmmpanther:PTHR11829	.	.	ENSP00000335493	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334793	Transcript	.	.	ENSG00000186564	3803	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.38)	.	FOXD2_HUMAN	FOXD2	HGNC	.	.	UPI000014153E	SNV	FOXD2,missense_variant,p.Arg388Leu,ENST00000334793,;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;	3282	11	11	SUCCESS
SCP2	6342	.	GRCh37	1	53443889	53443889	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	74	0	ENST00000371514.3:c.675T>G	p.Cys225Trp	p.C225W	ENST00000371514	NM_002979.4	225	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS572.1	675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGTCCCAC	NONE	.	.	hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Gene3D:3.40.47.10,Superfamily_domains:SSF53901	.	.	ENSP00000360569	.	9/16	.	.	.	.	.	.	.	.	COSM910733	9/16	PASS	ENST00000371514	Transcript	.	.	ENSG00000116171	10606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.711)	.	deleterious(0.01)	1	NLTP_HUMAN	SCP2	HGNC	.	.	UPI0000130258	SNV	SCP2,missense_variant,p.Cys225Trp,ENST00000371514,;SCP2,missense_variant,p.Cys144Trp,ENST00000528311,;SCP2,missense_variant,p.Cys181Trp,ENST00000371509,;SCP2,missense_variant,p.Cys201Trp,ENST00000407246,;SCP2,missense_variant,p.Cys181Trp,ENST00000371513,;SCP2,synonymous_variant,p.%3D,ENST00000529363,;SCP2,splice_region_variant,,ENST00000473584,;SCP2,downstream_gene_variant,,ENST00000528809,;SCP2,missense_variant,p.Cys225Trp,ENST00000478631,;	843	74	83	SUCCESS
TM2D1	83941	.	GRCh37	1	62175038	62175038	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs373304497	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	103	290	1	ENST00000294613.5:c.310G>C	p.Glu104Gln	p.E104Q	ENST00000294613		104	Gaa/Caa	0	T:0	.	.	.	.	G	E/Q	protein_coding	YES	.	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCGTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF1	.	T:0.0001	ENSP00000360222	.	3/7	.	.	.	.	.	.	.	.	rs373304497,COSM277706,COSM1176943	3/7	PASS	ENST00000371180	Transcript	.	.	ENSG00000162604	24142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.699)	.	tolerated(0.06)	0,1,1	.	TM2D1	HGNC	J3KPA2_HUMAN	.	UPI00003D17CC	SNV	TM2D1,missense_variant,p.Glu104Gln,ENST00000371177,;TM2D1,missense_variant,p.Glu104Gln,ENST00000606498,;TM2D1,missense_variant,p.Glu104Gln,ENST00000294613,;TM2D1,missense_variant,p.Glu166Gln,ENST00000371180,;TM2D1,non_coding_transcript_exon_variant,,ENST00000472989,;TM2D1,3_prime_UTR_variant,,ENST00000468586,;TM2D1,3_prime_UTR_variant,,ENST00000494926,;TM2D1,3_prime_UTR_variant,,ENST00000488206,;TM2D1,3_prime_UTR_variant,,ENST00000496465,;TM2D1,non_coding_transcript_exon_variant,,ENST00000371178,;	613	292	335	SUCCESS
PTPRA	5786	.	GRCh37	20	3005219	3005219	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	50	129	0	ENST00000380393.3:c.1566C>G	p.Tyr522Ter	p.Y522*	ENST00000380393	NM_002836.3	522	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS13038.1	1566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTACAACAA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	.	.	ENSP00000369756	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000380393	Transcript	.	.	ENSG00000132670	9664	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRA_HUMAN	PTPRA	HGNC	Q5JWG3_HUMAN,Q5JWG2_HUMAN	.	UPI000007155E	SNV	PTPRA,stop_gained,p.Tyr513Ter,ENST00000216877,;PTPRA,stop_gained,p.Tyr513Ter,ENST00000356147,;PTPRA,stop_gained,p.Tyr533Ter,ENST00000425918,;PTPRA,stop_gained,p.Tyr522Ter,ENST00000399903,;PTPRA,stop_gained,p.Tyr522Ter,ENST00000380393,;PTPRA,stop_gained,p.Tyr378Ter,ENST00000358719,;PTPRA,stop_gained,p.Tyr513Ter,ENST00000318266,;	2252	129	150	SUCCESS
ADNP	23394	.	GRCh37	20	49510049	49510049	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	44	0	ENST00000349014.3:c.1202C>G	p.Ser401Cys	p.S401C	ENST00000349014	NM_001282532.1	401	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS13433.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAGAAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15740:SF1,hmmpanther:PTHR15740	.	.	ENSP00000379346	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000396029	Transcript	1	.	ENSG00000101126	15766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0.02)	.	ADNP_HUMAN	ADNP	HGNC	E9PQK8_HUMAN	.	UPI00000375B9	SNV	ADNP,missense_variant,p.Ser401Cys,ENST00000396032,;ADNP,missense_variant,p.Ser401Cys,ENST00000396029,;ADNP,missense_variant,p.Ser401Cys,ENST00000349014,;ADNP,missense_variant,p.Ser401Cys,ENST00000371602,;ADNP,downstream_gene_variant,,ENST00000534467,;	1770	44	34	SUCCESS
FAM209B	388799	.	GRCh37	20	55111382	55111382	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	9	167	0	ENST00000371325.1:c.404G>A	p.Gly135Asp	p.G135D	ENST00000371325	NM_001013646.3	135	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS33494.1	404	MUTECT|MUSE	.	TAAAGGTGCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15206	.	.	ENSP00000360376	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371325	Transcript	.	.	ENSG00000213714	16101	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.208)	.	tolerated(0.27)	.	F209B_HUMAN	FAM209B	HGNC	.	.	UPI00001D82E0	SNV	FAM209B,missense_variant,p.Gly135Asp,ENST00000371325,;	500	167	196	SUCCESS
CXCR2	3579	.	GRCh37	2	218999521	218999521	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	74	0	ENST00000318507.2:c.1del		p.*1*	ENST00000318507	NM_001557.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2408.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TACCTCAAAAAT	NONE	.	.	.	.	.	ENSP00000319635	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000318507	Transcript	.	.	ENSG00000180871	6027	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXCR2_HUMAN	CXCR2	HGNC	Q53PC4_HUMAN,C9JW47_HUMAN,C9JG19_HUMAN,C9J2F9_HUMAN,C9J1J7_HUMAN	.	UPI000004358A	deletion	CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000318507,;CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000418878,;CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000428565,;CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000415392,;CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000454148,;CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000449014,;CXCR2,5_prime_UTR_variant,p.Met1?,ENST00000453237,;	424	74	112	SUCCESS
FEV	54738	.	GRCh37	2	219849832	219849832	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	64	0	ENST00000295727.1:c.-35C>A		p.*12*	ENST00000295727	NM_017521.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2428.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGACGGG	NONE	.	.	.	.	.	ENSP00000295727	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000295727	Transcript	.	.	ENSG00000163497	18562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FEV_HUMAN	FEV	HGNC	.	.	UPI0000073C40	SNV	FEV,5_prime_UTR_variant,,ENST00000295727,;FEV,upstream_gene_variant,,ENST00000470119,;	548	64	65	SUCCESS
IRS1	3667	.	GRCh37	2	227660609	227660609	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	97	0	ENST00000305123.5:c.2846G>A	p.Gly949Asp	p.G949D	ENST00000305123	NM_005544.2	949	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS2463.1	2846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGGCCCGGC	NONE	.	.	hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614	.	.	ENSP00000304895	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000305123	Transcript	.	.	ENSG00000169047	6125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	tolerated(0.25)	.	IRS1_HUMAN	IRS1	HGNC	.	.	UPI000003BB52	SNV	IRS1,missense_variant,p.Gly949Asp,ENST00000305123,;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;	3867	97	92	SUCCESS
SLC5A6	8884	.	GRCh37	2	27434923	27434923	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	49	0	ENST00000310574.3:c.-243G>A		p.*81*	ENST00000310574	NM_021095.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1740.1	.	MUTECT|MUSE	.	CGAAGCCGCGA	NONE	.	.	.	.	.	ENSP00000310208	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000310574	Transcript	.	.	ENSG00000138074	11041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SC5A6_HUMAN	SLC5A6	HGNC	Q9HD19_HUMAN,E7EXC0_HUMAN,E7EW78_HUMAN,E7EW41_HUMAN,E7ERE1_HUMAN,E7EP02_HUMAN,E7ENN0_HUMAN,E7ENG0_HUMAN,E7EMX0_HUMAN	.	UPI000006DE33	SNV	SLC5A6,5_prime_UTR_variant,,ENST00000442731,;SLC5A6,5_prime_UTR_variant,,ENST00000430186,;SLC5A6,5_prime_UTR_variant,,ENST00000310574,;SLC5A6,5_prime_UTR_variant,,ENST00000414408,;SLC5A6,5_prime_UTR_variant,,ENST00000428518,;ATRAID,5_prime_UTR_variant,,ENST00000380171,;SLC5A6,intron_variant,,ENST00000432106,;SLC5A6,upstream_gene_variant,,ENST00000412471,;ATRAID,upstream_gene_variant,,ENST00000606999,;SLC5A6,upstream_gene_variant,,ENST00000426119,;SLC5A6,upstream_gene_variant,,ENST00000408041,;ATRAID,upstream_gene_variant,,ENST00000419744,;SLC5A6,upstream_gene_variant,,ENST00000401463,;ATRAID,upstream_gene_variant,,ENST00000405489,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;ATRAID,upstream_gene_variant,,ENST00000484646,;ATRAID,upstream_gene_variant,,ENST00000491220,;ATRAID,upstream_gene_variant,,ENST00000472515,;SLC5A6,upstream_gene_variant,,ENST00000445802,;	232	49	47	SUCCESS
DYSF	8291	.	GRCh37	2	71743345	71743345	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	77	0	ENST00000258104.3:c.828G>C	p.Glu276Asp	p.E276D	ENST00000258104	NM_003494.3	276	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS46328.1	924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGCTGTT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000386881	.	9/56	.	.	.	.	.	.	.	.	.	9/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.33)	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,missense_variant,p.Glu307Asp,ENST00000409582,;DYSF,missense_variant,p.Glu308Asp,ENST00000410020,;DYSF,missense_variant,p.Glu277Asp,ENST00000409744,;DYSF,missense_variant,p.Glu276Asp,ENST00000429174,;DYSF,missense_variant,p.Glu307Asp,ENST00000409762,;DYSF,missense_variant,p.Glu308Asp,ENST00000410041,;DYSF,missense_variant,p.Glu308Asp,ENST00000409651,;DYSF,missense_variant,p.Glu277Asp,ENST00000394120,;DYSF,missense_variant,p.Glu277Asp,ENST00000409366,;DYSF,missense_variant,p.Glu307Asp,ENST00000413539,;DYSF,missense_variant,p.Glu276Asp,ENST00000258104,;	1065	77	86	SUCCESS
BCL6	604	.	GRCh37	3	187451412	187451412	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746411980	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	68	0	ENST00000232014.4:c.70C>A	p.Arg24Ser	p.R24S	ENST00000232014	NM_001130845.1	24	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS3289.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACGATTAA	NONE	.	.	hmmpanther:PTHR23228:SF88,hmmpanther:PTHR23228,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695	.	.	ENSP00000384371	.	3/10	.	.	.	.	.	.	.	.	rs746411980	3/10	PASS	ENST00000406870	Transcript	.	.	ENSG00000113916	1001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.01)	.	BCL6_HUMAN	BCL6	HGNC	C9JL16_HUMAN,C9JCS5_HUMAN	.	UPI000012682C	SNV	BCL6,missense_variant,p.Arg24Ser,ENST00000232014,;BCL6,missense_variant,p.Arg24Ser,ENST00000430339,;RP11-211G3.3,missense_variant,p.Arg77Leu,ENST00000449623,;BCL6,missense_variant,p.Arg24Ser,ENST00000438077,;BCL6,missense_variant,p.Arg24Ser,ENST00000450123,;BCL6,missense_variant,p.Arg24Ser,ENST00000406870,;RP11-211G3.3,downstream_gene_variant,,ENST00000437407,;BCL6,non_coding_transcript_exon_variant,,ENST00000480458,;BCL6,downstream_gene_variant,,ENST00000496823,;BCL6,missense_variant,p.Arg24Ser,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;	437	69	76	SUCCESS
MUC4	4585	.	GRCh37	3	195477874	195477874	+	synonymous_variant	Silent	SNP	G	G	A	rs542498469	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	52	94	0	ENST00000463781.3:c.15757C>T	p.Leu5253=	p.L5253=	ENST00000463781	NM_018406.6	5253	Ctg/Ttg	0	.	A:0	.	A:0.0014	.	A	L	protein_coding	YES	CCDS54700.1	15757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCAGCT	NONE	by1000G	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	A:0	.	ENSP00000417498	A:0	23/25	.	.	.	.	.	.	.	.	rs542498469	23/25	PASS	ENST00000463781	Transcript	.	A:0.0002	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,synonymous_variant,p.%3D,ENST00000346145,;MUC4,synonymous_variant,p.%3D,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,non_coding_transcript_exon_variant,,ENST00000469992,;MUC4,non_coding_transcript_exon_variant,,ENST00000464234,;MUC4,non_coding_transcript_exon_variant,,ENST00000467235,;	16217	94	118	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28931588	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	69	149	0	ENST00000349496.5:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349496	NM_001904.3	32	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2694.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGACTCT	SITE|p.D32N|c.94G>A|92,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5661,COSM5668,COSM5672	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.686)	.	deleterious(0.05)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Asn,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	374	149	159	SUCCESS
RBM6	10180	.	GRCh37	3	50091780	50091780	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1395704060	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	77	153	0	ENST00000266022.4:c.1645A>G	p.Ile549Val	p.I549V	ENST00000266022	NM_005777.2	549	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2809.1	1645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACATTGGT	NONE	.	.	hmmpanther:PTHR13948:SF22,hmmpanther:PTHR13948	.	.	ENSP00000266022	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000266022	Transcript	.	.	ENSG00000004534	9903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	RBM6_HUMAN	RBM6	HGNC	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN	.	UPI000013D6C0	SNV	RBM6,missense_variant,p.Ile27Val,ENST00000442092,;RBM6,missense_variant,p.Ile549Val,ENST00000266022,;RBM6,missense_variant,p.Ile27Val,ENST00000422955,;RBM6,missense_variant,p.Ile417Val,ENST00000443081,;RBM6,missense_variant,p.Ile27Val,ENST00000446471,;RBM6,5_prime_UTR_variant,,ENST00000539992,;RBM6,non_coding_transcript_exon_variant,,ENST00000464013,;RBM6,non_coding_transcript_exon_variant,,ENST00000441115,;RBM6,missense_variant,p.Ile417Val,ENST00000454079,;RBM6,missense_variant,p.Ile27Val,ENST00000434592,;RBM6,synonymous_variant,p.%3D,ENST00000419610,;RBM6,3_prime_UTR_variant,,ENST00000425608,;RBM6,non_coding_transcript_exon_variant,,ENST00000466247,;RBM6,non_coding_transcript_exon_variant,,ENST00000483350,;RBM6,upstream_gene_variant,,ENST00000478026,;	1904	153	183	SUCCESS
ITIH1	3697	.	GRCh37	3	52818348	52818348	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs576348078	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	43	115	1	ENST00000273283.2:c.1262G>T	p.Arg421Leu	p.R421L	ENST00000273283	NM_002215.3	421	cGc/cTc	0	.	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS2864.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCGCAACG	BUFFER|p.I424V|c.1270A>G|3	byFrequency|by1000G	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF00092,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106,PROSITE_profiles:PS50234	A:0	.	ENSP00000273283	A:0	11/22	.	.	.	.	.	.	.	.	rs576348078	11/22	PASS	ENST00000273283	Transcript	.	A:0.0006	ENSG00000055957	6166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	A:0.0031	deleterious(0.03)	.	ITIH1_HUMAN	ITIH1	HGNC	.	.	UPI000012DA1C	SNV	ITIH1,missense_variant,p.Arg133Leu,ENST00000537050,;ITIH1,missense_variant,p.Arg421Leu,ENST00000273283,;ITIH1,missense_variant,p.Arg421Leu,ENST00000542827,;ITIH1,missense_variant,p.Arg279Leu,ENST00000540715,;ITIH1,upstream_gene_variant,,ENST00000428133,;ITIH1,upstream_gene_variant,,ENST00000405128,;ITIH1,downstream_gene_variant,,ENST00000478667,;ITIH1,downstream_gene_variant,,ENST00000487686,;ITIH1,downstream_gene_variant,,ENST00000494603,;ITIH1,upstream_gene_variant,,ENST00000482836,;ITIH1,upstream_gene_variant,,ENST00000484844,;ITIH1,downstream_gene_variant,,ENST00000480409,;	1286	117	127	SUCCESS
ARHGEF3	50650	.	GRCh37	3	56763387	56763387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	91	1	ENST00000296315.3:c.1492G>T	p.Asp498Tyr	p.D498Y	ENST00000296315	NM_019555.2	498	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS46854.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTCCATAC	NONE	.	.	hmmpanther:PTHR22825:SF12,hmmpanther:PTHR22825	.	.	ENSP00000341071	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000338458	Transcript	.	.	ENSG00000163947	683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ARHG3_HUMAN	ARHGEF3	HGNC	C9J609_HUMAN,C9J5K8_HUMAN	.	UPI00001B3D98	SNV	ARHGEF3,missense_variant,p.Asp469Tyr,ENST00000497267,;ARHGEF3,missense_variant,p.Asp498Tyr,ENST00000296315,;ARHGEF3,missense_variant,p.Asp504Tyr,ENST00000496106,;ARHGEF3,missense_variant,p.Asp504Tyr,ENST00000413728,;ARHGEF3,missense_variant,p.Asp530Tyr,ENST00000338458,;ARHGEF3,downstream_gene_variant,,ENST00000495373,;ARHGEF3,3_prime_UTR_variant,,ENST00000465659,;	1698	92	104	SUCCESS
TAPT1	202018	.	GRCh37	4	16204107	16204107	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	254	157	334	0	ENST00000405303.2:c.427A>G	p.Thr143Ala	p.T143A	ENST00000405303	NM_153365.2	143	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47030.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGTGAGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4	.	.	ENSP00000385347	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000405303	Transcript	.	.	ENSG00000169762	26887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.06)	.	TAPT1_HUMAN	TAPT1	HGNC	B4DJJ3_HUMAN	.	UPI0000253B29	SNV	TAPT1,missense_variant,p.Thr143Ala,ENST00000405303,;TAPT1,missense_variant,p.Thr32Ala,ENST00000399920,;TAPT1,non_coding_transcript_exon_variant,,ENST00000510868,;TAPT1,non_coding_transcript_exon_variant,,ENST00000505152,;TAPT1,non_coding_transcript_exon_variant,,ENST00000513359,;TAPT1,non_coding_transcript_exon_variant,,ENST00000508888,;TAPT1,downstream_gene_variant,,ENST00000511156,;TAPT1,missense_variant,p.His99Arg,ENST00000505603,;TAPT1,missense_variant,p.Thr34Ala,ENST00000513833,;TAPT1,intron_variant,,ENST00000505317,;	511	334	411	SUCCESS
GPR125	0	.	GRCh37	4	22390453	22390453	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	98	0	ENST00000334304.5:c.2841G>A	p.Glu947=	p.E947=	ENST00000334304	NM_145290.3	947	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS33964.1	2841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCGCTCAGG	NONE	.	.	Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35,PROSITE_profiles:PS50261	.	.	ENSP00000334952	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000334304	Transcript	.	.	ENSG00000152990	13839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP125_HUMAN	GPR125	HGNC	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN	.	UPI00001D7735	SNV	GPR125,synonymous_variant,p.%3D,ENST00000334304,;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;GPR125,downstream_gene_variant,,ENST00000504617,;GPR125,non_coding_transcript_exon_variant,,ENST00000499527,;GPR125,intron_variant,,ENST00000511051,;	3111	98	93	SUCCESS
ALB	213	.	GRCh37	4	74274517	74274518	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	94	31	80	0	ENST00000295897.4:c.482dup	p.Tyr162IlefsTer4	p.Y162Ifs*4	ENST00000295897	NM_000477.5	159	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS3555.1	477-478	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTTGAAAAA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.Tyr162IlefsTer4,ENST00000509063,;ALB,frameshift_variant,p.Tyr162IlefsTer4,ENST00000295897,;ALB,frameshift_variant,p.Tyr164IlefsTer4,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	566-567	80	125	SUCCESS
ALB	213	.	GRCh37	4	74283386	74283387	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TG	TG	-	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	147	62	123	0	ENST00000295897.4:c.1428+2_1428+3del		p.X476_splice	ENST00000295897	NM_000477.5	476		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	1428-?	VARSCANI*|PINDEL	.	AGACTATGTGAGT	NONE	.	.	.	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	HIGH	11/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1517-?	123	209	SUCCESS
AFM	173	.	GRCh37	4	74361077	74361078	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GA	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	103	29	101	0	ENST00000226355.3:c.1120_1121insAG	p.Val374GlufsTer9	p.V374Efs*9	ENST00000226355	NM_001133.2	373	-/GA	0	.	.	.	.	.	GA	-/X	protein_coding	YES	CCDS3557.1	1119-1120	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAATTGTTCA	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF13,hmmpanther:PTHR11385,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000226355	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000226355	Transcript	.	.	ENSG00000079557	316	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AFAM_HUMAN	AFM	HGNC	.	.	UPI000012565D	insertion	AFM,frameshift_variant,p.Val374GlufsTer9,ENST00000226355,;AFM,non_coding_transcript_exon_variant,,ENST00000505794,;	1212-1213	101	132	SUCCESS
ANTXR2	118429	.	GRCh37	4	80952804	80952804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	331	187	438	2	ENST00000307333.7:c.839C>T	p.Pro280Leu	p.P280L	ENST00000307333	NM_001145794.1	280	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47086.1	839	RADIA|SOMATICSNIPER|VARSCANS	.	GTGCAGGACAA	NONE	.	.	PIRSF_domain:PIRSF038023,Pfam_domain:PF05587,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF13	.	.	ENSP00000306185	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000307333	Transcript	1	.	ENSG00000163297	21732	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	ANTR2_HUMAN	ANTXR2	HGNC	.	.	UPI000036725D	SNV	ANTXR2,missense_variant,p.Pro280Leu,ENST00000295465,;ANTXR2,missense_variant,p.Pro280Leu,ENST00000307333,;ANTXR2,missense_variant,p.Pro280Leu,ENST00000403729,;ANTXR2,missense_variant,p.Pro203Leu,ENST00000404191,;ANTXR2,intron_variant,,ENST00000346652,;ANTXR2,missense_variant,p.Pro203Leu,ENST00000449651,;	842	440	519	SUCCESS
PCMT1	5110	.	GRCh37	6	150114716	150114716	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	68	187	0	ENST00000367384.2:c.503A>G	p.Asp168Gly	p.D168G	ENST00000367384		168	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS59041.1	503	RADIA|MUTECT|MUSE	.	AATTGATCACA	NONE	.	.	hmmpanther:PTHR11579:SF3,hmmpanther:PTHR11579,Pfam_domain:PF01135,Gene3D:3.40.50.150,TIGRFAM_domain:TIGR00080,Superfamily_domains:SSF53335	.	.	ENSP00000356354	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000367384	Transcript	.	.	ENSG00000120265	8728	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	.	PCMT1	HGNC	H7BY58_HUMAN,C9J0F2_HUMAN	.	UPI0001B7942B	SNV	PCMT1,missense_variant,p.Asp75Gly,ENST00000544496,;PCMT1,missense_variant,p.Asp168Gly,ENST00000367384,;PCMT1,missense_variant,p.Asp110Gly,ENST00000367380,;PCMT1,missense_variant,p.Asp168Gly,ENST00000367378,;PCMT1,missense_variant,p.Asp168Gly,ENST00000464889,;PCMT1,missense_variant,p.Asp79Gly,ENST00000495487,;RP11-350J20.5,downstream_gene_variant,,ENST00000455607,;PCMT1,3_prime_UTR_variant,,ENST00000486585,;PCMT1,3_prime_UTR_variant,,ENST00000484601,;PCMT1,downstream_gene_variant,,ENST00000494411,;RP11-350J20.4,upstream_gene_variant,,ENST00000404779,;	788	187	210	SUCCESS
TAF11	6882	.	GRCh37	6	34846457	34846457	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	65	0	ENST00000361288.4:c.546A>G	p.Leu182=	p.L182=	ENST00000361288	NM_005643.3	182	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4797.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGTAGTGG	NONE	.	.	hmmpanther:PTHR13218,Gene3D:1.10.20.10,Pfam_domain:PF04719,Superfamily_domains:SSF47113	.	.	ENSP00000354633	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361288	Transcript	.	.	ENSG00000064995	11544	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF11_HUMAN	TAF11	HGNC	.	.	UPI000000106D	SNV	TAF11,missense_variant,p.Tyr150Cys,ENST00000420584,;TAF11,synonymous_variant,p.%3D,ENST00000361288,;UHRF1BP1,intron_variant,,ENST00000452449,;UHRF1BP1,downstream_gene_variant,,ENST00000192788,;	678	65	65	SUCCESS
MUC17	140453	.	GRCh37	7	100676597	100676597	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	46	63	0	ENST00000306151.4:c.1900A>G	p.Met634Val	p.M634V	ENST00000306151	NM_001040105.1	634	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34711.1	1900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTATGTCT	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Met634Val,ENST00000306151,;MUC17,missense_variant,p.Met634Val,ENST00000379439,;	1964	64	95	SUCCESS
ZNF862	643641	.	GRCh37	7	149543298	149543298	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	182	209	0	ENST00000223210.4:c.195G>A	p.Trp65Ter	p.W65*	ENST00000223210	NM_001099220.1	65	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS47741.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGGCTTGG	NONE	.	.	PROSITE_profiles:PS50805,SMART_domains:SM00349	.	.	ENSP00000223210	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000223210	Transcript	.	.	ENSG00000106479	34519	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN862_HUMAN	ZNF862	HGNC	C9JB70_HUMAN	.	UPI000016105C	SNV	ZNF862,stop_gained,p.Trp65Ter,ENST00000223210,;ZNF862,5_prime_UTR_variant,,ENST00000460379,;ZNF862,upstream_gene_variant,,ENST00000466435,;ZNF862,downstream_gene_variant,,ENST00000489820,;ZNF862,upstream_gene_variant,,ENST00000488265,;	440	209	324	SUCCESS
EN2	2020	.	GRCh37	7	155251300	155251300	+	synonymous_variant	Silent	SNP	G	G	A	rs1008034976	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	73	0	ENST00000297375.4:c.228G>A	p.Arg76=	p.R76=	ENST00000297375	NM_001427.3	76	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5940.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGCCCGA	NONE	.	.	hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341	.	.	ENSP00000297375	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000297375	Transcript	.	.	ENSG00000164778	3343	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HME2_HUMAN	EN2	HGNC	.	.	UPI000012CA05	SNV	EN2,synonymous_variant,p.%3D,ENST00000297375,;AC008060.8,upstream_gene_variant,,ENST00000419225,;	477	73	62	SUCCESS
MALSU1	115416	.	GRCh37	7	23338987	23338987	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375849242	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	31	74	0	ENST00000466681.1:c.16C>T	p.Arg6Cys	p.R6C	ENST00000466681	NM_138446.1	6	Cgt/Tgt	0	T:0.0005	T:0.0023	.	T:0	.	T	R/C	protein_coding	YES	CCDS5381.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCGTGTG	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM	T:0	T:0	ENSP00000419370	T:0	1/4	.	.	.	.	.	.	.	.	rs375849242	1/4	PASS	ENST00000466681	Transcript	.	T:0.0006	ENSG00000156928	21721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0	tolerated_low_confidence(0.49)	.	MASU1_HUMAN	MALSU1	HGNC	.	.	UPI000007180F	SNV	MALSU1,missense_variant,p.Arg6Cys,ENST00000466681,;MALSU1,intron_variant,,ENST00000479974,;MALSU1,non_coding_transcript_exon_variant,,ENST00000481564,;MALSU1,non_coding_transcript_exon_variant,,ENST00000287543,;	169	74	117	SUCCESS
ABCA13	154664	.	GRCh37	7	48315442	48315442	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775473596	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	68	66	2	ENST00000435803.1:c.6179C>A	p.Pro2060His	p.P2060H	ENST00000435803	NM_152701.3	2060	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS47584.1	6179	SOMATICSNIPER|VARSCANS	.	ATGGCCCAAGT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	rs775473596,COSM1451200,COSM1451199	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.067)	.	.	0,1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Pro2060His,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	6203	68	118	SUCCESS
ABCA13	154664	.	GRCh37	7	48431534	48431534	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	31	94	0	ENST00000435803.1:c.11671C>T	p.Leu3891Phe	p.L3891F	ENST00000435803	NM_152701.3	3891	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47584.1	11671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGCTCCAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	38/62	.	.	.	.	.	.	.	.	.	38/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Leu3891Phe,ENST00000435803,;ABCA13,missense_variant,p.Leu157Phe,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	11695	94	157	SUCCESS
MAGI2	9863	.	GRCh37	7	77762222	77762222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	47	61	2	ENST00000354212.4:c.3187C>A	p.Gln1063Lys	p.Q1063K	ENST00000354212	NM_012301.3	1063	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5594.1	3187	SOMATICSNIPER|VARSCANS	.	TCCTTGCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316	.	.	ENSP00000346151	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.158)	.	tolerated(0.94)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Gln1063Lys,ENST00000354212,;MAGI2,missense_variant,p.Gln1049Lys,ENST00000419488,;MAGI2,missense_variant,p.Gln1063Lys,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;	3441	63	82	SUCCESS
GPC2	221914	.	GRCh37	7	99768966	99768966	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	60	94	0	ENST00000292377.2:c.1404G>A	p.Arg468=	p.R468=	ENST00000292377	NM_152742.1	468	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5689.1	1404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGCCGTGT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF24	.	.	ENSP00000292377	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000292377	Transcript	.	.	ENSG00000213420	4450	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPC2_HUMAN	GPC2	HGNC	.	.	UPI000005340D	SNV	GPC2,synonymous_variant,p.%3D,ENST00000292377,;GAL3ST4,upstream_gene_variant,,ENST00000413800,;GAL3ST4,upstream_gene_variant,,ENST00000423751,;GAL3ST4,upstream_gene_variant,,ENST00000360039,;GAL3ST4,upstream_gene_variant,,ENST00000426974,;GAL3ST4,upstream_gene_variant,,ENST00000411994,;GPC2,non_coding_transcript_exon_variant,,ENST00000471050,;GAL3ST4,upstream_gene_variant,,ENST00000460995,;GPC2,downstream_gene_variant,,ENST00000482569,;GAL3ST4,upstream_gene_variant,,ENST00000482469,;GPC2,downstream_gene_variant,,ENST00000480087,;GAL3ST4,upstream_gene_variant,,ENST00000498000,;GPC2,non_coding_transcript_exon_variant,,ENST00000486702,;GPC2,downstream_gene_variant,,ENST00000490629,;GPC2,downstream_gene_variant,,ENST00000471717,;GAL3ST4,upstream_gene_variant,,ENST00000495882,;	1572	94	204	SUCCESS
TRIB1	10221	.	GRCh37	8	126443458	126443458	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	21	0	ENST00000311922.3:c.314T>C	p.Val105Ala	p.V105A	ENST00000311922	NM_025195.2	105	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6357.1	314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGTGTCCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000312150	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000311922	Transcript	.	.	ENSG00000173334	16891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.6)	.	TRIB1_HUMAN	TRIB1	HGNC	E5RFH4_HUMAN,B4DMM6_HUMAN	.	UPI00000717B2	SNV	TRIB1,missense_variant,p.Val105Ala,ENST00000311922,;TRIB1,upstream_gene_variant,,ENST00000519576,;TRIB1,upstream_gene_variant,,ENST00000520847,;TRIB1,upstream_gene_variant,,ENST00000521778,;	896	21	47	SUCCESS
TG	7038	.	GRCh37	8	133899121	133899121	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs765980140	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	62	119	0	ENST00000220616.4:c.1504C>T	p.Gln502Ter	p.Q502*	ENST00000220616	NM_003235.4	502	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34944.1	1504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCAGCAA	NONE	.	.	PIRSF_domain:PIRSF001831	.	.	ENSP00000220616	.	9/48	.	.	.	.	.	.	.	.	rs765980140	9/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,stop_gained,p.Gln502Ter,ENST00000220616,;TG,stop_gained,p.Gln502Ter,ENST00000377869,;TG,downstream_gene_variant,,ENST00000523901,;TG,downstream_gene_variant,,ENST00000520769,;	1544	119	277	SUCCESS
EPPK1	83481	.	GRCh37	8	144940731	144940731	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781786730	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	42	0	ENST00000525985.1:c.6691G>T	p.Val2231Leu	p.V2231L	ENST00000525985	NM_031308.2	2231	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	.	6691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACCAGGA	NONE	byFrequency	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	rs781786730	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	.	.	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,missense_variant,p.Val2231Leu,ENST00000525985,;	6763	42	100	SUCCESS
EPPK1	83481	.	GRCh37	8	144940732	144940732	+	synonymous_variant	Silent	SNP	C	C	G	rs782451308	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	21	44	0	ENST00000525985.1:c.6690G>C	p.Leu2230=	p.L2230=	ENST00000525985	NM_031308.2	2230	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	.	6690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCAGGAC	NONE	byFrequency	.	Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915:SF252,hmmpanther:PTHR11915	.	.	ENSP00000436337	.	2/2	.	.	.	.	.	.	.	.	rs782451308,COSM486176	2/2	PASS	ENST00000525985	Transcript	.	.	ENSG00000227184	15577	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	.	EPPK1	HGNC	E9PPU0_HUMAN	.	UPI00006C0DF1	SNV	EPPK1,synonymous_variant,p.%3D,ENST00000525985,;	6762	44	101	SUCCESS
PARP10	84875	.	GRCh37	8	145057702	145057702	+	synonymous_variant	Silent	SNP	G	G	A	rs1554748296	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	20	56	0	ENST00000313028.7:c.2055C>T	p.Leu685=	p.L685=	ENST00000313028	NM_032789.3	685	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34960.1	2055	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAGAGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF55	.	.	ENSP00000325618	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000313028	Transcript	.	.	ENSG00000178685	25895	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAR10_HUMAN	PARP10	HGNC	E9PSG8_HUMAN,E9PSE7_HUMAN,E9PQQ6_HUMAN,E9PPV8_HUMAN,E9PPU2_HUMAN,E9PM86_HUMAN,E9PLE8_HUMAN,E9PJI2_HUMAN,E9PIA6_HUMAN	.	UPI0000251FAB	SNV	PARP10,synonymous_variant,p.%3D,ENST00000313028,;PARP10,synonymous_variant,p.%3D,ENST00000524918,;PARP10,synonymous_variant,p.%3D,ENST00000525773,;PARP10,downstream_gene_variant,,ENST00000528914,;PARP10,downstream_gene_variant,,ENST00000525879,;PARP10,downstream_gene_variant,,ENST00000529842,;PARP10,downstream_gene_variant,,ENST00000529311,;PARP10,downstream_gene_variant,,ENST00000528625,;PARP10,downstream_gene_variant,,ENST00000532311,;PARP10,downstream_gene_variant,,ENST00000531537,;PARP10,downstream_gene_variant,,ENST00000313059,;PARP10,downstream_gene_variant,,ENST00000528136,;PARP10,downstream_gene_variant,,ENST00000531707,;PARP10,downstream_gene_variant,,ENST00000525486,;PARP10,downstream_gene_variant,,ENST00000530478,;PARP10,downstream_gene_variant,,ENST00000534737,;PARP10,downstream_gene_variant,,ENST00000532660,;PARP10,downstream_gene_variant,,ENST00000533665,;PARP10,synonymous_variant,p.%3D,ENST00000527262,;PARP10,non_coding_transcript_exon_variant,,ENST00000526007,;PARP10,downstream_gene_variant,,ENST00000526985,;PARP10,downstream_gene_variant,,ENST00000528580,;PARP10,downstream_gene_variant,,ENST00000528963,;	2150	56	158	SUCCESS
CDH17	1015	.	GRCh37	8	95158192	95158192	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs772290425	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	77	153	2	ENST00000027335.3:c.2131A>C	p.Ser711Arg	p.S711R	ENST00000027335	NM_004063.3	711	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS6260.1	2131	RADIA|SOMATICSNIPER|VARSCANS	.	TAAGCTTCCAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Superfamily_domains:SSF49313	.	.	ENSP00000027335	.	15/18	.	.	.	.	.	.	.	.	rs772290425	15/18	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.09)	.	tolerated(0.14)	.	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,missense_variant,p.Ser497Arg,ENST00000441892,;CDH17,missense_variant,p.Ser711Arg,ENST00000450165,;CDH17,missense_variant,p.Ser711Arg,ENST00000027335,;CDH17,downstream_gene_variant,,ENST00000520952,;	2256	155	256	SUCCESS
COL27A1	85301	.	GRCh37	9	117020825	117020825	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	61	0	ENST00000356083.3:c.3146C>T	p.Pro1049Leu	p.P1049L	ENST00000356083	NM_032888.2	1049	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS6802.1	3146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCTCCAG	BUFFER|p.R1053*|c.3157C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362	.	.	ENSP00000348385	.	28/61	.	.	.	.	.	.	.	.	.	28/61	PASS	ENST00000356083	Transcript	.	.	ENSG00000196739	22986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CORA1_HUMAN	COL27A1	HGNC	.	.	UPI0000062271	SNV	COL27A1,missense_variant,p.Pro1049Leu,ENST00000356083,;COL27A1,3_prime_UTR_variant,,ENST00000494090,;	3537	61	84	SUCCESS
TAF1L	138474	.	GRCh37	9	32631164	32631164	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1426409183	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	78	215	1	ENST00000242310.4:c.4414G>T	p.Val1472Leu	p.V1472L	ENST00000242310	NM_153809.2	1472	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS35003.1	4414	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACAATTA	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PROSITE_patterns:PS00633,Gene3D:1.20.920.10,Pfam_domain:PF00439,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	tolerated(0.14)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Val1472Leu,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	4504	216	204	SUCCESS
TAF1L	138474	.	GRCh37	9	32631294	32631294	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	69	205	1	ENST00000242310.4:c.4284C>A	p.Val1428=	p.V1428=	ENST00000242310	NM_153809.2	1428	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS35003.1	4284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGACTGG	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PROSITE_patterns:PS00633,Gene3D:1.20.920.10,Pfam_domain:PF00439,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,synonymous_variant,p.%3D,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	4374	206	227	SUCCESS
SEC31B	25956	.	GRCh37	10	102256096	102256096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	9	89	0	ENST00000370345.3:c.2229G>T	p.Arg743Ser	p.R743S	ENST00000370345	NM_015490.3	743	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS7495.1	2229	RADIA|MUTECT|MUSE|VARSCANS	.	GTGACCCTGTA	NONE	.	.	hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	.	.	ENSP00000359370	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	deleterious(0.04)	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,missense_variant,p.Arg743Ser,ENST00000370345,;SEC31B,downstream_gene_variant,,ENST00000451524,;SEC31B,non_coding_transcript_exon_variant,,ENST00000469824,;SEC31B,downstream_gene_variant,,ENST00000494350,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000484848,;SEC31B,downstream_gene_variant,,ENST00000498298,;	2327	89	80	SUCCESS
BMS1	9790	.	GRCh37	10	43312903	43312903	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	rs771464519	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	76	0	ENST00000374518.5:c.2541T>G	p.Tyr847Ter	p.Y847*	ENST00000374518	NM_014753.3	847	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS7199.1	2541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATATTTTGA	NONE	.	.	Pfam_domain:PF04950,hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858	.	.	ENSP00000363642	.	15/23	.	.	.	.	.	.	.	.	rs771464519	15/23	PASS	ENST00000374518	Transcript	1	.	ENSG00000165733	23505	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMS1_HUMAN	BMS1	HGNC	.	.	UPI0000126A3E	SNV	BMS1,stop_gained,p.Tyr847Ter,ENST00000374518,;	2604	76	67	SUCCESS
ERCC6	2074	.	GRCh37	10	50681069	50681069	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	67	185	0	ENST00000355832.5:c.2715A>G	p.Thr905=	p.T905=	ENST00000355832	NM_000124.3	905	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS7229.1	2715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATGTGTC	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000348089	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000355832	Transcript	1	.	ENSG00000225830	3438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC6_HUMAN	ERCC6	HGNC	F5H493_HUMAN,D6R9X7_HUMAN	.	UPI000000D8DA	SNV	ERCC6,synonymous_variant,p.%3D,ENST00000542458,;ERCC6,synonymous_variant,p.%3D,ENST00000355832,;RP11-123B3.2,downstream_gene_variant,,ENST00000423283,;ERCC6,upstream_gene_variant,,ENST00000465653,;	2794	185	205	SUCCESS
EGR2	1959	.	GRCh37	10	64573833	64573833	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	13	131	0	ENST00000242480.3:c.565C>T	p.Leu189=	p.L189=	ENST00000242480	NM_001136177.1	189	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7267.1	565	MUTECT|MUSE|VARSCANS	.	TGACAGGAACG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF6	.	.	ENSP00000242480	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242480	Transcript	1	.	ENSG00000122877	3239	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EGR2_HUMAN	EGR2	HGNC	.	.	UPI000013CB07	SNV	EGR2,synonymous_variant,p.%3D,ENST00000439032,;EGR2,synonymous_variant,p.%3D,ENST00000242480,;EGR2,synonymous_variant,p.%3D,ENST00000411732,;EGR2,downstream_gene_variant,,ENST00000493899,;	891	131	144	SUCCESS
OPN4	94233	.	GRCh37	10	88422074	88422074	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150092638	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	52	0	ENST00000241891.5:c.1139G>A	p.Arg380His	p.R380H	ENST00000241891	NM_033282.3	380	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS31237.1	1172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGCCCCT	NONE	byCluster	.	hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72,Low_complexity_(Seg):seg	.	A:0.0001	ENSP00000361141	.	9/11	.	.	.	.	.	.	.	.	rs150092638	9/11	PASS	ENST00000372071	Transcript	.	.	ENSG00000122375	14449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.67)	.	OPN4_HUMAN	OPN4	HGNC	.	.	UPI00001544ED	SNV	OPN4,missense_variant,p.Arg380His,ENST00000241891,;OPN4,missense_variant,p.Arg391His,ENST00000372071,;OPN4,missense_variant,p.Arg391His,ENST00000443292,;	1399	52	63	SUCCESS
CRTAC1	55118	.	GRCh37	10	99656702	99656702	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	31	0	ENST00000370597.3:c.1180C>A	p.Pro394Thr	p.P394T	ENST00000370597	NM_018058.6	394	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS31266.1	1180	MUTECT|MUSE|VARSCANS	.	GCCGGGATTGA	NONE	.	.	hmmpanther:PTHR16026,hmmpanther:PTHR16026:SF4,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000359629	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000370597	Transcript	.	.	ENSG00000095713	14882	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.076)	.	tolerated(0.47)	.	CRAC1_HUMAN	CRTAC1	HGNC	.	.	UPI000006D454	SNV	CRTAC1,missense_variant,p.Pro394Thr,ENST00000298819,;CRTAC1,missense_variant,p.Pro394Thr,ENST00000370597,;CRTAC1,missense_variant,p.Pro394Thr,ENST00000370591,;CRTAC1,missense_variant,p.Pro386Thr,ENST00000309155,;CRTAC1,missense_variant,p.Pro290Thr,ENST00000413387,;	1536	31	54	SUCCESS
OPCML	4978	.	GRCh37	11	133402163	133402163	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	70	0	ENST00000524381.1:c.57C>T	p.Ile19=	p.I19=	ENST00000524381	NM_001012393.1	19	atC/atT	0	.	.	.	.	.	A	I	protein_coding	.	CCDS31722.1	57	MUTECT|MUSE	.	CCTGGGATGAA	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831	.	.	ENSP00000434750	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000524381	Transcript	.	.	ENSG00000183715	8143	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OPCM_HUMAN	OPCML	HGNC	B2CZX3_HUMAN	.	UPI00001A9955	SNV	OPCML,synonymous_variant,p.%3D,ENST00000524381,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;	252	70	55	SUCCESS
QSER1	79832	.	GRCh37	11	32954330	32954330	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	8	128	0	ENST00000399302.2:c.1139G>T	p.Gly380Val	p.G380V	ENST00000399302	NM_001076786.1	380	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41631.1	1139	MUTECT|MUSE	.	TTCTGGGTCAT	NONE	.	.	hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2	.	.	ENSP00000382241	.	4/13	.	.	.	.	.	.	.	.	COSM3791450	4/13	PASS	ENST00000399302	Transcript	.	.	ENSG00000060749	26154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.342)	.	deleterious(0.02)	1	QSER1_HUMAN	QSER1	HGNC	E9PQD3_HUMAN,B3KWV1_HUMAN	.	UPI0000E467AF	SNV	QSER1,missense_variant,p.Gly380Val,ENST00000399302,;QSER1,intron_variant,,ENST00000527788,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000527250,;	1474	128	137	SUCCESS
TCP11L1	55346	.	GRCh37	11	33076187	33076187	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760256428	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	14	98	0	ENST00000334274.4:c.212G>T	p.Arg71Ile	p.R71I	ENST00000334274	NM_018393.3	71	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS7882.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGAGAGGTG	NONE	byFrequency	.	hmmpanther:PTHR12832:SF15,hmmpanther:PTHR12832	.	.	ENSP00000335595	.	3/10	.	.	.	.	.	.	.	.	rs760256428	3/10	PASS	ENST00000334274	Transcript	.	.	ENSG00000176148	25655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0)	.	T11L1_HUMAN	TCP11L1	HGNC	R4GNF5_HUMAN,E9PS88_HUMAN,E9PP52_HUMAN	.	UPI0000071A1F	SNV	TCP11L1,missense_variant,p.Arg71Ile,ENST00000531632,;TCP11L1,missense_variant,p.Arg71Ile,ENST00000432887,;TCP11L1,missense_variant,p.Arg71Ile,ENST00000530419,;TCP11L1,missense_variant,p.Arg71Ile,ENST00000602733,;TCP11L1,missense_variant,p.Arg71Ile,ENST00000334274,;TCP11L1,upstream_gene_variant,,ENST00000324357,;TCP11L1,intron_variant,,ENST00000530171,;TCP11L1,missense_variant,p.Arg71Ile,ENST00000527661,;TCP11L1,missense_variant,p.Arg71Ile,ENST00000528107,;	612	98	91	SUCCESS
PRICKLE1	144165	.	GRCh37	12	42853795	42853795	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	63	160	0	ENST00000345127.3:c.2312A>T	p.Asp771Val	p.D771V	ENST00000345127	NM_153026.2	771	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS8742.1	2312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGTCGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14	.	.	ENSP00000401060	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000455697	Transcript	.	.	ENSG00000139174	17019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0)	.	PRIC1_HUMAN	PRICKLE1	HGNC	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN	.	UPI000013D6F5	SNV	PRICKLE1,missense_variant,p.Asp771Val,ENST00000345127,;PRICKLE1,missense_variant,p.Asp771Val,ENST00000552240,;PRICKLE1,missense_variant,p.Asp771Val,ENST00000455697,;PRICKLE1,missense_variant,p.Asp771Val,ENST00000445766,;PRICKLE1,missense_variant,p.Asp771Val,ENST00000548696,;PPHLN1,downstream_gene_variant,,ENST00000317560,;RP11-328C8.4,non_coding_transcript_exon_variant,,ENST00000547824,;	2598	160	167	SUCCESS
KRT6B	3854	.	GRCh37	12	52845384	52845384	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756620061	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	292	46	306	0	ENST00000252252.3:c.479G>A	p.Arg160Gln	p.R160Q	ENST00000252252	NM_005555.3	160	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8828.1	479	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCCGCACC	NONE	byFrequency	.	hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000252252	.	1/9	.	.	.	.	.	.	.	.	rs756620061	1/9	PASS	ENST00000252252	Transcript	.	.	ENSG00000185479	6444	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.481)	.	deleterious(0.01)	.	K2C6B_HUMAN	KRT6B	HGNC	.	.	UPI000013CD50	SNV	KRT6B,missense_variant,p.Arg160Gln,ENST00000252252,;	527	306	339	SUCCESS
ANO2	57101	.	GRCh37	12	5860094	5860094	+	synonymous_variant	Silent	SNP	C	C	A	rs759708910	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	9	151	0	ENST00000356134.5:c.1089G>T	p.Leu363=	p.L363=	ENST00000356134		363	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	.	1086	MUTECT|MUSE	.	AATCCCAGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF20,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000314048	.	11/26	.	.	.	.	.	.	.	.	rs759708910	11/26	PASS	ENST00000327087	Transcript	.	.	ENSG00000047617	1183	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANO2_HUMAN	ANO2	HGNC	Q69YW4_HUMAN	.	UPI0001823FDD	SNV	ANO2,synonymous_variant,p.%3D,ENST00000327087,;ANO2,synonymous_variant,p.%3D,ENST00000546188,;ANO2,synonymous_variant,p.%3D,ENST00000356134,;	1158	151	217	SUCCESS
B4GALNT3	283358	.	GRCh37	12	666923	666923	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151134407	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	84	0	ENST00000266383.5:c.2530C>T	p.Arg844Trp	p.R844W	ENST00000266383	NM_173593.3	844	Cgg/Tgg	0	T:0	T:0.0008	.	T:0	.	T	R/W	protein_coding	YES	CCDS8504.1	2530	RADIA|MUSE	.	AGCTGCGGAGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	T:0.0129	T:0.0002	ENSP00000266383	T:0	16/20	.	.	.	.	.	.	.	.	rs151134407	16/20	common_in_exac	ENST00000266383	Transcript	.	T:0.0028	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.932)	T:0	deleterious(0.01)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Arg844Trp,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	2543	84	88	SUCCESS
ERCC5	2073	.	GRCh37	13	103520547	103520547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	43	250	0	ENST00000355739.4:c.2618C>A	p.Thr873Asn	p.T873N	ENST00000355739	NM_000123.3	873	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	.	3896	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAACCGCCA	NONE	.	.	hmmpanther:PTHR16171,Gene3D:1.10.150.20,TIGRFAM_domain:TIGR00600,SMART_domains:SM00279,Superfamily_domains:SSF47807	.	.	ENSP00000473384	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000602836	Transcript	.	.	ENSG00000270181	43690	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	.	BIVM-ERCC5	HGNC	.	.	UPI0002B83330	SNV	BIVM-ERCC5,missense_variant,p.Thr1299Asn,ENST00000602836,;ERCC5,missense_variant,p.Thr873Asn,ENST00000355739,;ERCC5,missense_variant,p.Thr106Asn,ENST00000375954,;ERCC5,non_coding_transcript_exon_variant,,ENST00000481099,;	3894	250	264	SUCCESS
NOP9	161424	.	GRCh37	14	24769239	24769239	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	86	97	0	ENST00000267425.3:c.79G>A	p.Gly27Arg	p.G27R	ENST00000267425	NM_174913.1	27	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS9624.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGGGTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13102,hmmpanther:PTHR13102:SF0	.	.	ENSP00000267425	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000267425	Transcript	.	.	ENSG00000196943	19826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.16)	.	NOP9_HUMAN	NOP9	HGNC	B3KVY3_HUMAN	.	UPI000000CBCF	SNV	NOP9,missense_variant,p.Gly27Arg,ENST00000267425,;NOP9,missense_variant,p.Gly27Arg,ENST00000396802,;DHRS1,upstream_gene_variant,,ENST00000288111,;NOP9,upstream_gene_variant,,ENST00000557362,;DHRS1,upstream_gene_variant,,ENST00000396813,;DHRS1,upstream_gene_variant,,ENST00000559483,;DHRS1,upstream_gene_variant,,ENST00000561273,;DHRS1,upstream_gene_variant,,ENST00000558114,;DHRS1,upstream_gene_variant,,ENST00000558340,;DHRS1,upstream_gene_variant,,ENST00000560991,;	172	97	158	SUCCESS
PSMA3	5684	.	GRCh37	14	58734222	58734222	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	10	54	0	ENST00000216455.4:c.574A>G	p.Lys192Glu	p.K192E	ENST00000216455	NM_152132.2	192	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9731.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTTAAAGAA	NONE	.	.	Superfamily_domains:SSF56235,Gene3D:3.60.20.10,Pfam_domain:PF00227,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF10,PROSITE_profiles:PS51475	.	.	ENSP00000216455	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000216455	Transcript	.	.	ENSG00000100567	9532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.08)	.	PSA3_HUMAN	PSMA3	HGNC	G3V4X5_HUMAN	.	UPI000000D961	SNV	PSMA3,missense_variant,p.Lys117Glu,ENST00000557508,;PSMA3,missense_variant,p.Lys185Glu,ENST00000412908,;PSMA3,missense_variant,p.Lys192Glu,ENST00000216455,;PSMA3,intron_variant,,ENST00000553677,;RP11-349A22.5,intron_variant,,ENST00000555275,;RP11-349A22.5,intron_variant,,ENST00000554360,;RP11-349A22.5,intron_variant,,ENST00000555162,;RP11-349A22.5,intron_variant,,ENST00000556002,;RP11-349A22.5,intron_variant,,ENST00000554378,;CTD-2002H8.2,intron_variant,,ENST00000557322,;RP11-349A22.5,downstream_gene_variant,,ENST00000555707,;C14orf37,intron_variant,,ENST00000554218,;PSMA3,3_prime_UTR_variant,,ENST00000557087,;PSMA3,3_prime_UTR_variant,,ENST00000555931,;PSMA3,non_coding_transcript_exon_variant,,ENST00000554812,;PSMA3,non_coding_transcript_exon_variant,,ENST00000555743,;PSMA3,non_coding_transcript_exon_variant,,ENST00000554207,;PSMA3,upstream_gene_variant,,ENST00000557290,;	664	54	77	SUCCESS
RTN1	6252	.	GRCh37	14	60193689	60193689	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	20	170	0	ENST00000267484.5:c.1713G>T	p.Gly571=	p.G571=	ENST00000267484	NM_021136.2	571	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9740.1	1713	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCCCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994	.	.	ENSP00000267484	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,synonymous_variant,p.%3D,ENST00000267484,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	2049	170	170	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77493785	77493785	+	synonymous_variant	Silent	SNP	C	C	T	rs765159340	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	27	0	ENST00000238647.3:c.351G>A	p.Gln117=	p.Q117=	ENST00000238647	NM_024496.3	117	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9854.1	351	MUTECT|MUSE	.	TGCTGCTGCTG	BUFFER|p.Q116Q|c.348G>A|7	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF14,hmmpanther:PTHR10816	.	.	ENSP00000238647	.	1/1	.	.	.	.	.	.	.	.	rs765159340	1/1	PASS	ENST00000238647	Transcript	.	.	ENSG00000119669	14282	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,synonymous_variant,p.%3D,ENST00000238647,;	1250	27	35	SUCCESS
RAB8B	51762	.	GRCh37	15	63547751	63547751	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	103	451	1	ENST00000321437.4:c.292A>G	p.Asn98Asp	p.N98D	ENST00000321437	NM_016530.2	98	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS10183.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACAATATT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF22,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00177,Superfamily_domains:SSF52540	.	.	ENSP00000312734	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000321437	Transcript	.	.	ENSG00000166128	30273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	RAB8B_HUMAN	RAB8B	HGNC	.	.	UPI00000412A7	SNV	RAB8B,missense_variant,p.Asn98Asp,ENST00000559006,;RAB8B,missense_variant,p.Asn98Asp,ENST00000321437,;RAB8B,missense_variant,p.Asn98Asp,ENST00000448330,;RAB8B,3_prime_UTR_variant,,ENST00000558119,;RAB8B,3_prime_UTR_variant,,ENST00000558990,;RAB8B,3_prime_UTR_variant,,ENST00000559927,;	448	452	266	SUCCESS
HMG20A	10363	.	GRCh37	15	77763375	77763375	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	67	370	0	ENST00000336216.4:c.574C>T	p.His192Tyr	p.H192Y	ENST00000336216		192	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10295.1	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCATAGG	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF158	.	.	ENSP00000371133	.	6/11	.	.	.	.	.	.	.	.	COSM3504240	6/11	PASS	ENST00000381714	Transcript	.	.	ENSG00000140382	5001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	deleterious(0.03)	1	HM20A_HUMAN	HMG20A	HGNC	H0YNS8_HUMAN,H0YMS9_HUMAN,H0YM80_HUMAN,H0YKM5_HUMAN,H0YK55_HUMAN,B4DMG1_HUMAN	.	UPI00000737EF	SNV	HMG20A,missense_variant,p.His192Tyr,ENST00000381714,;HMG20A,missense_variant,p.His192Tyr,ENST00000336216,;HMG20A,downstream_gene_variant,,ENST00000558651,;HMG20A,downstream_gene_variant,,ENST00000560498,;HMG20A,downstream_gene_variant,,ENST00000560867,;HMG20A,downstream_gene_variant,,ENST00000558176,;HMG20A,downstream_gene_variant,,ENST00000559099,;HMG20A,downstream_gene_variant,,ENST00000559035,;	1002	370	201	SUCCESS
ABCA3	21	.	GRCh37	16	2342161	2342161	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	13	94	0	ENST00000301732.5:c.2493C>T	p.Thr831=	p.T831=	ENST00000301732	NM_001089.2	831	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS10466.1	2493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGGTGGT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98	.	.	ENSP00000301732	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,synonymous_variant,p.%3D,ENST00000382381,;ABCA3,synonymous_variant,p.%3D,ENST00000301732,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	3194	94	92	SUCCESS
ARHGAP17	55114	.	GRCh37	16	24942269	24942269	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	74	0	ENST00000289968.6:c.2351C>G	p.Pro784Arg	p.P784R	ENST00000289968	NM_001006634.1	784	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS32409.1	2351	MUTECT|MUSE	.	TTTCAGGGTTA	NONE	.	.	hmmpanther:PTHR14130:SF3,hmmpanther:PTHR14130	.	.	ENSP00000289968	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000289968	Transcript	.	.	ENSG00000140750	18239	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.804)	.	deleterious_low_confidence(0)	.	RHG17_HUMAN	ARHGAP17	HGNC	I3L4P6_HUMAN	.	UPI00000433FD	SNV	ARHGAP17,missense_variant,p.Pro72Arg,ENST00000571843,;ARHGAP17,missense_variant,p.Pro152Arg,ENST00000573765,;ARHGAP17,missense_variant,p.Pro784Arg,ENST00000289968,;ARHGAP17,missense_variant,p.Pro706Arg,ENST00000303665,;ARHGAP17,missense_variant,p.Pro26Arg,ENST00000571406,;ARHGAP17,3_prime_UTR_variant,,ENST00000441763,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000572314,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000570320,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575283,;	2421	74	55	SUCCESS
ATP6V0C	527	.	GRCh37	16	2569246	2569246	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	29	57	0	ENST00000330398.4:c.107A>C	p.Lys36Thr	p.K36T	ENST00000330398	NM_001694.3	36	aAg/aCg	0	.	.	.	.	.	C	Q/H	protein_coding	YES	.	993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAAGAGCG	NONE	.	.	.	.	.	ENSP00000455547	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000564543	Transcript	.	.	ENSG00000260272	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0)	.	.	RP11-20I23.1	Clone_based_vega_gene	H3BV07_HUMAN,H3BQ06_HUMAN	.	UPI0002466D02	SNV	RP11-20I23.1,missense_variant,p.Gln331His,ENST00000564543,;ATP6V0C,missense_variant,p.Gln18His,ENST00000568562,;ATP6V0C,missense_variant,p.Lys36Thr,ENST00000330398,;ATP6V0C,5_prime_UTR_variant,,ENST00000565223,;ATP6V0C,5_prime_UTR_variant,,ENST00000564973,;ATP6C,intron_variant,,ENST00000569317,;AMDHD2,upstream_gene_variant,,ENST00000293971,;AMDHD2,upstream_gene_variant,,ENST00000568263,;AMDHD2,upstream_gene_variant,,ENST00000569879,;AMDHD2,upstream_gene_variant,,ENST00000566706,;AMDHD2,upstream_gene_variant,,ENST00000563556,;AMDHD2,upstream_gene_variant,,ENST00000302956,;AMDHD2,upstream_gene_variant,,ENST00000413459,;AMDHD2,upstream_gene_variant,,ENST00000565963,;AMDHD2,upstream_gene_variant,,ENST00000567475,;AMDHD2,upstream_gene_variant,,ENST00000569219,;AMDHD2,upstream_gene_variant,,ENST00000563633,;	1110	57	52	SUCCESS
CBFA2T3	863	.	GRCh37	16	88968033	88968033	+	synonymous_variant	Silent	SNP	C	C	A	rs762521713	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	22	0	ENST00000268679.4:c.183G>T	p.Ala61=	p.A61=	ENST00000268679	NM_005187.5	61	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10972.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCGCTGA	NONE	byFrequency	.	hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6	.	.	ENSP00000268679	.	2/12	.	.	.	.	.	.	.	.	rs762521713	2/12	PASS	ENST00000268679	Transcript	.	.	ENSG00000129993	1537	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTG16_HUMAN	CBFA2T3	HGNC	H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN	.	UPI0000167F93	SNV	CBFA2T3,synonymous_variant,p.%3D,ENST00000563640,;CBFA2T3,synonymous_variant,p.%3D,ENST00000436887,;CBFA2T3,synonymous_variant,p.%3D,ENST00000268679,;CBFA2T3,5_prime_UTR_variant,,ENST00000564416,;CBFA2T3,5_prime_UTR_variant,,ENST00000570046,;CBFA2T3,5_prime_UTR_variant,,ENST00000569464,;CBFA2T3,5_prime_UTR_variant,,ENST00000360302,;CBFA2T3,5_prime_UTR_variant,,ENST00000569443,;CBFA2T3,5_prime_UTR_variant,,ENST00000327483,;CBFA2T3,5_prime_UTR_variant,,ENST00000562719,;CBFA2T3,intron_variant,,ENST00000448839,;	580	22	20	SUCCESS
KIAA0100	9703	.	GRCh37	17	26958607	26958607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	6	125	0	ENST00000528896.2:c.4189C>A	p.Pro1397Thr	p.P1397T	ENST00000528896	NM_014680.3	1397	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32595.1	4189	MUTECT|MUSE	.	AGTGGGTGAGG	NONE	.	.	hmmpanther:PTHR15678	.	.	ENSP00000436773	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.69)	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,missense_variant,p.Pro253Thr,ENST00000577261,;KIAA0100,missense_variant,p.Pro1254Thr,ENST00000544884,;KIAA0100,missense_variant,p.Pro1254Thr,ENST00000389003,;KIAA0100,missense_variant,p.Pro1397Thr,ENST00000528896,;RP11-192H23.7,upstream_gene_variant,,ENST00000577814,;RP11-192H23.7,upstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000582417,;	4264	125	187	SUCCESS
GAS2L2	246176	.	GRCh37	17	34072962	34072962	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	34	0	ENST00000254466.6:c.1554C>T	p.Ser518=	p.S518=	ENST00000254466	NM_139285.3	518	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11298.1	1554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915	.	.	ENSP00000254466	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000254466	Transcript	.	.	ENSG00000132139	24846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA2L2_HUMAN	GAS2L2	HGNC	.	.	UPI0000061E50	SNV	GAS2L2,synonymous_variant,p.%3D,ENST00000587565,;GAS2L2,synonymous_variant,p.%3D,ENST00000254466,;RASL10B,downstream_gene_variant,,ENST00000268864,;	1582	34	42	SUCCESS
TNS4	84951	.	GRCh37	17	38643429	38643429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772361427	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	26	145	0	ENST00000254051.6:c.1147C>T	p.Pro383Ser	p.P383S	ENST00000254051	NM_032865.5	383	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS11368.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGTTCTG	NONE	.	.	hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF20	.	.	ENSP00000254051	.	4/13	.	.	.	.	.	.	.	.	rs772361427	4/13	PASS	ENST00000254051	Transcript	.	.	ENSG00000131746	24352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.17)	.	TENS4_HUMAN	TNS4	HGNC	.	.	UPI000013CE0F	SNV	TNS4,missense_variant,p.Pro383Ser,ENST00000254051,;	1306	145	147	SUCCESS
ABCA10	10349	.	GRCh37	17	67212097	67212120	+	inframe_deletion	In_Frame_Del	DEL	CATAGGTTTCCTTATTAAAACACT	CATAGGTTTCCTTATTAAAACACT	-	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	CATAGGTTTCCTTATTAAAACACT	CATAGGTTTCCTTATTAAAACACT	.	.	.	.	.	.	.	.	.	.	.	.	.	365	39	292	0	ENST00000269081.4:c.694_717del	p.Ser232_Met239del	p.S232_M239del	ENST00000269081	NM_080282.3	232	AGTGTTTTAATAAGGAAACCTATG/-	0	.	.	.	.	.	-	SVLIRKPM/-	protein_coding	YES	CCDS11684.1	694-717	INDELOCATOR*|PINDEL	.	AGCGAGCATAGGTTTCCTTATTAAAACACTCATGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229,Pfam_domain:PF12698	.	.	ENSP00000269081	.	9/40	.	.	.	.	.	.	.	.	.	9/40	PASS	ENST00000269081	Transcript	.	.	ENSG00000154263	30	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCAA_HUMAN	ABCA10	HGNC	K7ERP5_HUMAN	.	UPI000013D7F6	deletion	ABCA10,inframe_deletion,p.Ser232_Met239del,ENST00000416101,;ABCA10,inframe_deletion,p.Ser232_Met239del,ENST00000269081,;ABCA10,inframe_deletion,p.Ser232_Met239del,ENST00000432313,;ABCA10,downstream_gene_variant,,ENST00000423818,;ABCA10,inframe_deletion,p.Ser232_Met239del,ENST00000522406,;ABCA10,inframe_deletion,p.Ser232_Met239del,ENST00000523419,;ABCA10,inframe_deletion,p.Ser232_Met239del,ENST00000518929,;ABCA10,3_prime_UTR_variant,,ENST00000523512,;ABCA10,intron_variant,,ENST00000524273,;	1604-1627	292	404	SUCCESS
DNAH2	146754	.	GRCh37	17	7682620	7682620	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	19	89	0	ENST00000389173.2:c.5601G>A	p.Val1867=	p.V1867=	ENST00000389173	NM_020877.2	1867	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS32551.1	5601	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGGTGGC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Gene3D:3.40.50.300,Pfam_domain:PF12774,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000458355	.	36/86	.	.	.	.	.	.	.	.	.	36/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,synonymous_variant,p.%3D,ENST00000389173,;DNAH2,synonymous_variant,p.%3D,ENST00000572933,;DNAH2,3_prime_UTR_variant,,ENST00000574518,;	7061	89	120	SUCCESS
GAS7	8522	.	GRCh37	17	9850209	9850209	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	48	0	ENST00000432992.2:c.615+2T>C		p.X205_splice	ENST00000432992	NM_201433.1	205		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11152.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTACCCAG	NONE	.	.	.	.	.	ENSP00000407552	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000432992	Transcript	.	.	ENSG00000007237	4169	.	.	HIGH	6/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GAS7_HUMAN	GAS7	HGNC	J3QS26_HUMAN,J3QLH8_HUMAN,J3KTK6_HUMAN,J3KTB1_HUMAN,J3KS47_HUMAN,B7Z1Q2_HUMAN	.	UPI00001B4B17	SNV	GAS7,splice_donor_variant,,ENST00000579158,;GAS7,splice_donor_variant,,ENST00000437099,;GAS7,splice_donor_variant,,ENST00000584146,;GAS7,splice_donor_variant,,ENST00000432992,;GAS7,splice_donor_variant,,ENST00000583882,;GAS7,splice_donor_variant,,ENST00000323816,;GAS7,splice_donor_variant,,ENST00000580865,;GAS7,splice_donor_variant,,ENST00000585266,;GAS7,splice_donor_variant,,ENST00000542249,;GAS7,intron_variant,,ENST00000396115,;GAS7,intron_variant,,ENST00000540214,;GAS7,downstream_gene_variant,,ENST00000584389,;GAS7,downstream_gene_variant,,ENST00000578599,;GAS7,splice_donor_variant,,ENST00000578655,;GAS7,splice_donor_variant,,ENST00000580811,;GAS7,splice_donor_variant,,ENST00000581871,;GAS7,splice_donor_variant,,ENST00000579140,;	.	48	57	SUCCESS
DAZAP1	26528	.	GRCh37	19	1422373	1422373	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs748644324	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	75	0	ENST00000233078.4:c.441C>G	p.Asp147Glu	p.D147E	ENST00000233078	NM_018959.2	147	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS12065.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGACGCCGA	NONE	byFrequency	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF259,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000233078	.	6/12	.	.	.	.	.	.	.	.	rs748644324	6/12	PASS	ENST00000233078	Transcript	.	.	ENSG00000071626	2683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	DAZP1_HUMAN	DAZAP1	HGNC	Q5IRM7_HUMAN,B3KS63_HUMAN	.	UPI00000728D6	SNV	DAZAP1,missense_variant,p.Asp125Glu,ENST00000592453,;DAZAP1,missense_variant,p.Asp147Glu,ENST00000233078,;DAZAP1,missense_variant,p.Asp147Glu,ENST00000336761,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000586579,;DAZAP1,downstream_gene_variant,,ENST00000587833,;DAZAP1,downstream_gene_variant,,ENST00000590419,;DAZAP1,3_prime_UTR_variant,,ENST00000592522,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589484,;DAZAP1,upstream_gene_variant,,ENST00000585485,;	602	75	73	SUCCESS
SYDE1	85360	.	GRCh37	19	15224540	15224540	+	synonymous_variant	Silent	SNP	C	C	T	rs760620825	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	55	103	1	ENST00000342784.2:c.1974C>T	p.Cys658=	p.C658=	ENST00000342784	NM_033025.4	658	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS12324.1	1974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGCGGGCG	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	8/8	.	.	.	.	.	.	.	.	rs760620825	8/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,synonymous_variant,p.%3D,ENST00000600440,;SYDE1,synonymous_variant,p.%3D,ENST00000600252,;SYDE1,synonymous_variant,p.%3D,ENST00000342784,;ILVBL,downstream_gene_variant,,ENST00000598709,;SYDE1,downstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000534378,;ILVBL,downstream_gene_variant,,ENST00000263383,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000534806,;ILVBL,downstream_gene_variant,,ENST00000533148,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000596093,;ILVBL,downstream_gene_variant,,ENST00000524779,;ILVBL,downstream_gene_variant,,ENST00000525880,;	2005	104	124	SUCCESS
UBA52	7311	.	GRCh37	19	18684552	18684552	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	45	0	ENST00000430157.2:c.184C>T	p.Gln62Ter	p.Q62*	ENST00000430157	NM_003333.3	62	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12382.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCAGAAA	NONE	.	.	Prints_domain:PR00348,Superfamily_domains:SSF54236,SMART_domains:SM00213,Gene3D:3.10.20.90,Pfam_domain:PF00240,hmmpanther:PTHR10666,PROSITE_profiles:PS50053	.	.	ENSP00000388107	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000442744	Transcript	.	.	ENSG00000221983	12458	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL40_HUMAN	UBA52	HGNC	Q3MIH3_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,F5GZ39_HUMAN,A8CGI2_HUMAN	.	UPI0000021092	SNV	UBA52,stop_gained,p.Gln62Ter,ENST00000599551,;UBA52,stop_gained,p.Gln62Ter,ENST00000430157,;UBA52,stop_gained,p.Gln37Ter,ENST00000594527,;UBA52,stop_gained,p.Gln62Ter,ENST00000597451,;UBA52,stop_gained,p.Gln62Ter,ENST00000596273,;UBA52,stop_gained,p.Gln62Ter,ENST00000595683,;UBA52,stop_gained,p.Gln62Ter,ENST00000442744,;UBA52,stop_gained,p.Gln62Ter,ENST00000598780,;UBA52,stop_gained,p.Gln44Ter,ENST00000596272,;UBA52,stop_gained,p.Gln62Ter,ENST00000599595,;UBA52,stop_gained,p.Gln62Ter,ENST00000596304,;UBA52,stop_gained,p.Gln62Ter,ENST00000599256,;UBA52,stop_gained,p.Gln62Ter,ENST00000595158,;KXD1,downstream_gene_variant,,ENST00000595073,;KXD1,downstream_gene_variant,,ENST00000602094,;KXD1,downstream_gene_variant,,ENST00000540691,;KXD1,downstream_gene_variant,,ENST00000539106,;KXD1,downstream_gene_variant,,ENST00000601630,;KXD1,downstream_gene_variant,,ENST00000222307,;AC005253.4,upstream_gene_variant,,ENST00000593791,;CRLF1,intron_variant,,ENST00000594325,;UBA52,non_coding_transcript_exon_variant,,ENST00000598814,;KXD1,downstream_gene_variant,,ENST00000600654,;	242	45	58	SUCCESS
ZNF208	7757	.	GRCh37	19	22170031	22170031	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	30	115	0	ENST00000397126.4:c.213G>T	p.Val71=	p.V71=	ENST00000397126	NM_007153.3	71	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54240.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCACCAT	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50805	.	.	ENSP00000380315	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,synonymous_variant,p.%3D,ENST00000601773,;ZNF208,synonymous_variant,p.%3D,ENST00000599916,;ZNF208,synonymous_variant,p.%3D,ENST00000597040,;ZNF208,synonymous_variant,p.%3D,ENST00000599723,;ZNF208,synonymous_variant,p.%3D,ENST00000397126,;ZNF208,downstream_gene_variant,,ENST00000601993,;	362	115	102	SUCCESS
ZNF91	7644	.	GRCh37	19	23543281	23543281	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	60	0	ENST00000300619.7:c.2500G>A	p.Ala834Thr	p.A834T	ENST00000300619	NM_003430.2	834	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42541.1	2500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCTTTGC	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.239)	.	tolerated(0.24)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Ala802Thr,ENST00000397082,;ZNF91,missense_variant,p.Ala834Thr,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	2706	60	68	SUCCESS
NFKBIB	4793	.	GRCh37	19	39398077	39398077	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	96	1	ENST00000313582.5:c.747G>A	p.Val249=	p.V249=	ENST00000313582	NM_002503.4	249	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12524.1	747	RADIA|MUTECT|VARSCANS	.	GCAGTGGAGGC	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF30,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	.	.	ENSP00000312988	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000313582	Transcript	.	.	ENSG00000104825	7798	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IKBB_HUMAN	NFKBIB	HGNC	I3L4X3_HUMAN	.	UPI000006FFE4	SNV	NFKBIB,synonymous_variant,p.%3D,ENST00000313582,;NFKBIB,synonymous_variant,p.%3D,ENST00000572515,;NFKBIB,synonymous_variant,p.%3D,ENST00000392079,;NFKBIB,synonymous_variant,p.%3D,ENST00000576510,;CCER2,downstream_gene_variant,,ENST00000571838,;NFKBIB,downstream_gene_variant,,ENST00000575359,;CCER2,downstream_gene_variant,,ENST00000571845,;NFKBIB,3_prime_UTR_variant,,ENST00000509705,;	781	97	104	SUCCESS
CYP2B6	1555	.	GRCh37	19	41515201	41515201	+	synonymous_variant	Silent	SNP	C	C	T	rs35349987	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	406	107	483	0	ENST00000324071.4:c.723C>T	p.Ile241=	p.I241=	ENST00000324071	NM_000767.4	241	atC/atT	0	A:0.0043	A:0.003	.	A:0.0014	.	T	I	protein_coding	YES	CCDS12570.1	723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCAATGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	A:0	A:0	ENSP00000324648	A:0	5/9	.	.	.	.	.	.	.	.	rs35349987	5/9	PASS	ENST00000324071	Transcript	1	A:0.0010	ENSG00000197408	2615	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CP2B6_HUMAN	CYP2B6	HGNC	Q9UNX8_HUMAN,F2X1B0_HUMAN	.	UPI000012823F	SNV	CYP2B6,synonymous_variant,p.%3D,ENST00000324071,;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,intron_variant,,ENST00000330446,;CYP2B6,downstream_gene_variant,,ENST00000598834,;CYP2B6,upstream_gene_variant,,ENST00000597612,;CYP2B6,downstream_gene_variant,,ENST00000594187,;	730	483	514	SUCCESS
FKRP	79147	.	GRCh37	19	47260089	47260089	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774161137	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	45	0	ENST00000318584.5:c.1382C>T	p.Ala461Val	p.A461V	ENST00000318584	NM_024301.4	461	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12691.1	1382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCGCCTA	NONE	.	.	hmmpanther:PTHR13627,hmmpanther:PTHR13627:SF25	.	.	ENSP00000326570	.	4/4	.	.	.	.	.	.	.	.	rs774161137	4/4	PASS	ENST00000318584	Transcript	1	.	ENSG00000181027	17997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	.	tolerated(0.09)	.	FKRP_HUMAN	FKRP	HGNC	M0R342_HUMAN,M0R2U3_HUMAN,M0R274_HUMAN,M0R1M1_HUMAN,M0R112_HUMAN,M0R0G0_HUMAN,M0R092_HUMAN,M0R016_HUMAN,M0R005_HUMAN,M0QZ68_HUMAN,M0QZ46_HUMAN,M0QYV8_HUMAN,M0QYV4_HUMAN,M0QYR2_HUMAN,M0QXT8_HUMAN,M0QX03_HUMAN	.	UPI00000732D0	SNV	FKRP,missense_variant,p.Ala461Val,ENST00000318584,;FKRP,missense_variant,p.Ala461Val,ENST00000391909,;FKRP,downstream_gene_variant,,ENST00000602250,;FKRP,downstream_gene_variant,,ENST00000593902,;FKRP,downstream_gene_variant,,ENST00000600834,;FKRP,downstream_gene_variant,,ENST00000596460,;FKRP,downstream_gene_variant,,ENST00000600227,;FKRP,downstream_gene_variant,,ENST00000597313,;FKRP,downstream_gene_variant,,ENST00000593800,;FKRP,downstream_gene_variant,,ENST00000595570,;FKRP,downstream_gene_variant,,ENST00000593875,;FKRP,downstream_gene_variant,,ENST00000600629,;FKRP,downstream_gene_variant,,ENST00000600005,;FKRP,downstream_gene_variant,,ENST00000594467,;FKRP,downstream_gene_variant,,ENST00000601299,;FKRP,downstream_gene_variant,,ENST00000595868,;FKRP,downstream_gene_variant,,ENST00000593877,;FKRP,downstream_gene_variant,,ENST00000598271,;FKRP,downstream_gene_variant,,ENST00000602181,;FKRP,intron_variant,,ENST00000597339,;FKRP,intron_variant,,ENST00000600646,;FKRP,downstream_gene_variant,,ENST00000596974,;FKRP,downstream_gene_variant,,ENST00000600977,;FKRP,downstream_gene_variant,,ENST00000600872,;	1679	45	50	SUCCESS
ACPT	0	.	GRCh37	19	51293729	51293729	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1416355711	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	56	0	ENST00000270593.1:c.58C>G	p.Leu20Val	p.L20V	ENST00000270593	NM_033068.2	20	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12802.1	58	MUTECT|MUSE	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11567:SF117,hmmpanther:PTHR11567	.	.	ENSP00000270593	.	1/11	.	.	.	.	.	.	.	.	COSM1244142	1/11	PASS	ENST00000270593	Transcript	.	.	ENSG00000142513	14376	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.001)	.	tolerated(0.27)	1	PPAT_HUMAN	ACPT	HGNC	.	.	UPI0000048D54	SNV	ACPT,missense_variant,p.Leu20Val,ENST00000270594,;ACPT,missense_variant,p.Leu20Val,ENST00000270593,;CTD-2568A17.1,upstream_gene_variant,,ENST00000563228,;CTD-2568A17.1,upstream_gene_variant,,ENST00000562076,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	58	56	72	SUCCESS
EPS8L1	54869	.	GRCh37	19	55591839	55591839	+	intron_variant	Intron	SNP	G	G	C	rs368017744	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	18	164	0	ENST00000201647.6:c.429+193G>C		p.*143*	ENST00000201647	NM_133180.2			0	C:0.0005	.	.	.	.	C	.	protein_coding	YES	CCDS12914.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATAGAACAT	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000201647	.	.	.	.	.	.	.	.	.	.	rs368017744	.	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	MODIFIER	6/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,5_prime_UTR_variant,,ENST00000588359,;EPS8L1,5_prime_UTR_variant,,ENST00000245618,;EPS8L1,intron_variant,,ENST00000586329,;EPS8L1,intron_variant,,ENST00000201647,;EPS8L1,intron_variant,,ENST00000540810,;EPS8L1,intron_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592044,;EPS8L1,intron_variant,,ENST00000587786,;EPS8L1,upstream_gene_variant,,ENST00000592102,;EPS8L1,upstream_gene_variant,,ENST00000590610,;EPS8L1,upstream_gene_variant,,ENST00000590232,;EPS8L1,downstream_gene_variant,,ENST00000592318,;EPS8L1,upstream_gene_variant,,ENST00000592284,;EPS8L1,downstream_gene_variant,,ENST00000591219,;EPS8L1,upstream_gene_variant,,ENST00000589362,;	.	164	169	SUCCESS
NLRP11	204801	.	GRCh37	19	56320851	56320851	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	104	0	ENST00000589093.1:c.1125T>A	p.Ala375=	p.A375=	ENST00000589093		375	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12935.1	1125	RADIA|MUTECT|MUSE|VARSCANS	.	GCATCAGCAAG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62	.	.	ENSP00000409898	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000443188	Transcript	.	.	ENSG00000179873	22945	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAL11_HUMAN	NLRP11	HGNC	K7ESF9_HUMAN	.	UPI000013ED9D	SNV	NLRP11,synonymous_variant,p.%3D,ENST00000589093,;NLRP11,synonymous_variant,p.%3D,ENST00000592953,;NLRP11,synonymous_variant,p.%3D,ENST00000589824,;NLRP11,synonymous_variant,p.%3D,ENST00000443188,;NLRP11,synonymous_variant,p.%3D,ENST00000360133,;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,synonymous_variant,p.%3D,ENST00000593244,;NLRP11,synonymous_variant,p.%3D,ENST00000590409,;	1836	104	97	SUCCESS
POLRMT	5442	.	GRCh37	19	621680	621680	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1304580366	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	53	0	ENST00000588649.2:c.2018C>T	p.Thr673Met	p.T673M	ENST00000588649	NM_005035.3	673	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS12036.1	2018	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGTGCGC	NONE	.	.	hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102,Gene3D:1mswD01,Pfam_domain:PF14700,Superfamily_domains:SSF56672	.	.	ENSP00000465759	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000588649	Transcript	.	.	ENSG00000099821	9200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	tolerated(0.15)	.	RPOM_HUMAN	POLRMT	HGNC	.	.	UPI000013C68E	SNV	POLRMT,missense_variant,p.Thr673Met,ENST00000588649,;HCN2,downstream_gene_variant,,ENST00000251287,;POLRMT,upstream_gene_variant,,ENST00000590336,;POLRMT,downstream_gene_variant,,ENST00000590573,;LLNLR-299G3.1,upstream_gene_variant,,ENST00000607288,;AC005559.2,upstream_gene_variant,,ENST00000591847,;POLRMT,non_coding_transcript_exon_variant,,ENST00000586384,;POLRMT,downstream_gene_variant,,ENST00000588630,;POLRMT,upstream_gene_variant,,ENST00000592633,;POLRMT,upstream_gene_variant,,ENST00000589961,;POLRMT,upstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000590709,;	2103	54	33	SUCCESS
MISP	126353	.	GRCh37	19	758337	758337	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781240965	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	99	0	ENST00000215582.6:c.1391C>T	p.Thr464Met	p.T464M	ENST00000215582	NM_173481.2	464	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS12042.1	1391	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGATGT	NONE	byFrequency	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	rs781240965	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.754)	.	deleterious(0.02)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Thr464Met,ENST00000215582,;	1494	100	89	SUCCESS
KCND3	3752	.	GRCh37	1	112524623	112524623	+	synonymous_variant	Silent	SNP	G	G	C	rs775467051	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	70	0	ENST00000315987.2:c.726C>G	p.Leu242=	p.L242=	ENST00000315987	NM_004980.4	242	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS843.1	726	MUTECT|MUSE	.	CGCAGGAGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF17,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000319591	.	2/8	.	.	.	.	.	.	.	.	rs775467051	2/8	PASS	ENST00000315987	Transcript	.	.	ENSG00000171385	6239	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCND3_HUMAN	KCND3	HGNC	.	.	UPI000003050A	SNV	KCND3,synonymous_variant,p.%3D,ENST00000369697,;KCND3,synonymous_variant,p.%3D,ENST00000302127,;KCND3,synonymous_variant,p.%3D,ENST00000315987,;	1206	70	46	SUCCESS
CSDE1	7812	.	GRCh37	1	115280104	115280104	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	533	89	512	1	ENST00000438362.2:c.528C>G	p.Tyr176Ter	p.Y176*	ENST00000438362	NM_001242891.1	176	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS55626.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCGTAGCA	NONE	.	.	hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	.	.	ENSP00000407724	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000438362	Transcript	.	.	ENSG00000009307	29905	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSDE1	HGNC	Q9UG93_HUMAN,G5E9Q2_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN	.	UPI0000D99B0F	SNV	CSDE1,stop_gained,p.Tyr130Ter,ENST00000358528,;CSDE1,stop_gained,p.Tyr130Ter,ENST00000534699,;CSDE1,stop_gained,p.Tyr176Ter,ENST00000438362,;CSDE1,intron_variant,,ENST00000369530,;CSDE1,intron_variant,,ENST00000261443,;CSDE1,intron_variant,,ENST00000339438,;CSDE1,intron_variant,,ENST00000529046,;CSDE1,intron_variant,,ENST00000530886,;CSDE1,intron_variant,,ENST00000525132,;CSDE1,downstream_gene_variant,,ENST00000525878,;CSDE1,downstream_gene_variant,,ENST00000525970,;CSDE1,downstream_gene_variant,,ENST00000534389,;	907	513	623	SUCCESS
SOX13	9580	.	GRCh37	1	204093920	204093920	+	synonymous_variant	Silent	SNP	C	C	T	rs750845374	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	53	243	1	ENST00000367204.1:c.1527C>T	p.Arg509=	p.R509=	ENST00000367204	NM_005686.2	509	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS44299.1	1527	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGCGTGGG	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF109	.	.	ENSP00000356172	.	13/14	.	.	.	.	.	.	.	.	rs750845374	13/14	PASS	ENST00000367204	Transcript	.	.	ENSG00000143842	11192	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX13_HUMAN	SOX13	HGNC	E9PPW0_HUMAN,E9PKD6_HUMAN,B4E3N9_HUMAN	.	UPI000034ECAB	SNV	SOX13,synonymous_variant,p.%3D,ENST00000367204,;SOX13,non_coding_transcript_exon_variant,,ENST00000272193,;SOX13,downstream_gene_variant,,ENST00000367203,;SOX13,downstream_gene_variant,,ENST00000480326,;SOX13,downstream_gene_variant,,ENST00000525258,;	1636	244	268	SUCCESS
PTPN14	5784	.	GRCh37	1	214557166	214557166	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759897774	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	64	0	ENST00000366956.5:c.2032G>A	p.Glu678Lys	p.E678K	ENST00000366956	NM_005401.4	678	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1514.1	2032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGGGCG	NONE	byFrequency	.	PIRSF_domain:PIRSF000934,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77	.	.	ENSP00000355923	.	13/19	.	.	.	.	.	.	.	.	rs759897774	13/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.58)	.	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Glu678Lys,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	2227	64	65	SUCCESS
ZBTB18	10472	.	GRCh37	1	244217791	244217791	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs368207817	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	215	7	174	0	ENST00000358704.4:c.715G>C	p.Val239Leu	p.V239L	ENST00000358704	NM_205768.2	239	Gtg/Ctg	0	A:0	.	.	.	.	C	V/L	protein_coding	YES	CCDS1622.1	715	MUTECT|MUSE	.	CCTCCGTGAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389	.	A:0.0001	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	rs368207817	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.65)	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,missense_variant,p.Val239Leu,ENST00000358704,;	864	174	222	SUCCESS
ELTD1	0	.	GRCh37	1	79357333	79357333	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	72	0	ENST00000370742.3:c.1886C>A	p.Thr629Asn	p.T629N	ENST00000370742	NM_022159.3	629	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS41352.1	1886	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGTGCCG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000359778	.	14/15	.	.	.	.	.	.	.	.	COSM536274	14/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.906)	.	deleterious(0.01)	1	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Thr629Asn,ENST00000370742,;ELTD1,missense_variant,p.Thr87Asn,ENST00000401034,;	1950	72	52	SUCCESS
CLSTN1	22883	.	GRCh37	1	9791241	9791241	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	64	0	ENST00000377298.4:c.2748+23C>A		p.*916*	ENST00000377298	NM_001009566.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30580.1	.	RADIA|VARSCANS	.	GTCCTGGAGGT	NONE	.	.	.	.	.	ENSP00000366513	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377298	Transcript	.	.	ENSG00000171603	17447	.	.	MODIFIER	18/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSTN1_HUMAN	CLSTN1	HGNC	.	.	UPI0000127B95	SNV	CLSTN1,intron_variant,,ENST00000435891,;CLSTN1,intron_variant,,ENST00000377298,;CLSTN1,intron_variant,,ENST00000361311,;CLSTN1,intron_variant,,ENST00000377288,;PIK3CD,downstream_gene_variant,,ENST00000361110,;PIK3CD,downstream_gene_variant,,ENST00000536656,;PIK3CD,downstream_gene_variant,,ENST00000377346,;CLSTN1,non_coding_transcript_exon_variant,,ENST00000477264,;	.	64	31	SUCCESS
PLK1S1	0	.	GRCh37	20	21142862	21142862	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	97	201	0	ENST00000457464.1:n.420G>A		p.*140*	ENST00000457464				0	.	.	.	.	.	A	.	antisense	YES	.	.	RADIA|MUTECT|MUSE	.	TGCTTGGAGAT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000591761	Transcript	.	.	ENSG00000232712	.	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP4-777D9.2	Clone_based_vega_gene	.	.	.	SNV	RP4-777D9.2,intron_variant,,ENST00000591761,;RP5-872K7.7,intron_variant,,ENST00000425746,;RP5-872K7.7,upstream_gene_variant,,ENST00000434043,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000428699,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000458446,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000445992,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000457464,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000424111,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000427692,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000432487,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000447448,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000246027,;RPS15AP1,downstream_gene_variant,,ENST00000457423,;	.	201	255	SUCCESS
TGM6	343641	.	GRCh37	20	2411162	2411162	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	107	0	ENST00000202625.2:c.1749G>C	p.Leu583=	p.L583=	ENST00000202625	NM_198994.2	583	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13025.1	1749	MUTECT|MUSE	.	ATCCTGTTGGC	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,Pfam_domain:PF00927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000202625	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000202625	Transcript	1	.	ENSG00000166948	16255	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TGM3L_HUMAN	TGM6	HGNC	.	.	UPI0000367011	SNV	TGM6,synonymous_variant,p.%3D,ENST00000381423,;TGM6,synonymous_variant,p.%3D,ENST00000202625,;	1810	107	109	SUCCESS
ZHX3	23051	.	GRCh37	20	39832198	39832198	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	6	84	0	ENST00000309060.3:c.1359G>A	p.Gln453=	p.Q453=	ENST00000309060		453	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13315.1	1359	MUTECT|MUSE	.	CCTGGCTGCTT	NONE	.	.	hmmpanther:PTHR15467:SF6,hmmpanther:PTHR15467	.	.	ENSP00000312222	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000309060	Transcript	.	.	ENSG00000174306	15935	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZHX3_HUMAN	ZHX3	HGNC	H0YMK8_HUMAN,F6YD28_HUMAN,F6XGA7_HUMAN,F6UQN6_HUMAN,F6UBH9_HUMAN,F6S7L4_HUMAN	.	UPI000000D72C	SNV	ZHX3,synonymous_variant,p.%3D,ENST00000540170,;ZHX3,synonymous_variant,p.%3D,ENST00000432768,;ZHX3,synonymous_variant,p.%3D,ENST00000559234,;ZHX3,synonymous_variant,p.%3D,ENST00000544979,;ZHX3,synonymous_variant,p.%3D,ENST00000309060,;ZHX3,synonymous_variant,p.%3D,ENST00000560361,;ZHX3,synonymous_variant,p.%3D,ENST00000421422,;ZHX3,intron_variant,,ENST00000558993,;ZHX3,intron_variant,,ENST00000557816,;ZHX3,downstream_gene_variant,,ENST00000436099,;ZHX3,downstream_gene_variant,,ENST00000419740,;ZHX3,downstream_gene_variant,,ENST00000373261,;ZHX3,downstream_gene_variant,,ENST00000436440,;ZHX3,downstream_gene_variant,,ENST00000441102,;ZHX3,upstream_gene_variant,,ENST00000559436,;ZHX3,3_prime_UTR_variant,,ENST00000560364,;	1775	84	132	SUCCESS
IL17RA	23765	.	GRCh37	22	17590239	17590239	+	synonymous_variant	Silent	SNP	C	C	T	rs745971564	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	101	276	1	ENST00000319363.6:c.2130C>T	p.Gly710=	p.G710=	ENST00000319363	NM_014339.6	710	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS13739.1	2130	RADIA|MUTECT|MUSE	.	CCGGGCGCTGG	NONE	byFrequency	.	hmmpanther:PTHR15583:SF1,hmmpanther:PTHR15583	.	.	ENSP00000320936	.	13/13	.	.	.	.	.	.	.	.	rs745971564	13/13	PASS	ENST00000319363	Transcript	.	.	ENSG00000177663	5985	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	I17RA_HUMAN	IL17RA	HGNC	F1JZ08_HUMAN	.	UPI000005031F	SNV	IL17RA,synonymous_variant,p.%3D,ENST00000319363,;	2263	277	264	SUCCESS
UFD1L	0	.	GRCh37	22	19442129	19442129	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	27	1	ENST00000263202.10:c.849+143A>C		p.*283*	ENST00000263202	NM_005659.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13761.1	.	SOMATICSNIPER|VARSCANS	.	GTAAATTGCCC	NONE	.	.	.	.	.	ENSP00000263202	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263202	Transcript	.	.	ENSG00000070010	12520	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UFD1_HUMAN	UFD1L	HGNC	Q541A5_HUMAN,C9J7C8_HUMAN,C9J6N9_HUMAN	.	UPI0000000A0D	SNV	UFD1L,intron_variant,,ENST00000263202,;UFD1L,intron_variant,,ENST00000360834,;UFD1L,intron_variant,,ENST00000399523,;UFD1L,downstream_gene_variant,,ENST00000447868,;UFD1L,downstream_gene_variant,,ENST00000421968,;AC000068.10,upstream_gene_variant,,ENST00000608816,;AC000068.5,downstream_gene_variant,,ENST00000431090,;AC000068.9,downstream_gene_variant,,ENST00000607934,;UFD1L,non_coding_transcript_exon_variant,,ENST00000459854,;UFD1L,intron_variant,,ENST00000466373,;	.	28	29	SUCCESS
MZT2B	80097	.	GRCh37	2	130948160	130948160	+	synonymous_variant	Silent	SNP	G	G	A	rs376967942	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	306	50	209	0	ENST00000281871.6:c.438G>A	p.Gly146=	p.G146=	ENST00000281871	NM_025029.3	146	ggG/ggA	0	T:0	.	.	.	.	A	G	protein_coding	YES	CCDS2157.1	438	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGGGCGG	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000281871	.	3/3	.	.	.	.	.	.	.	.	rs376967942,COSM3406865	3/3	PASS	ENST00000281871	Transcript	.	.	ENSG00000152082	25886	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	MZT2B_HUMAN	MZT2B	HGNC	.	.	UPI00001591CB	SNV	MZT2B,missense_variant,p.Gly87Arg,ENST00000455239,;MZT2B,synonymous_variant,p.%3D,ENST00000457492,;MZT2B,synonymous_variant,p.%3D,ENST00000425361,;MZT2B,synonymous_variant,p.%3D,ENST00000281871,;MZT2B,synonymous_variant,p.%3D,ENST00000409255,;TUBA3E,downstream_gene_variant,,ENST00000312988,;MZT2B,downstream_gene_variant,,ENST00000491178,;MZT2B,non_coding_transcript_exon_variant,,ENST00000480182,;	793	209	356	SUCCESS
LRP1B	53353	.	GRCh37	2	141625315	141625315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	52	131	0	ENST00000389484.3:c.4423G>T	p.Val1475Leu	p.V1475L	ENST00000389484	NM_018557.2	1475	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS2182.1	4423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACACAGCAA	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	27/91	.	.	.	.	.	.	.	.	.	27/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Val1475Leu,ENST00000389484,;LRP1B,missense_variant,p.Val620Leu,ENST00000434794,;	5395	131	188	SUCCESS
TTN	7273	.	GRCh37	2	179433557	179433557	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs541266544	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	78	0	ENST00000591111.1:c.72379C>A	p.Leu24127Ile	p.L24127I	ENST00000591111		24127	Ctt/Att	0	.	T:0	.	T:0	.	T	L/I	protein_coding	YES	CCDS59435.1	77302	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGATATT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	T:0	.	ENSP00000467141	T:0	326/363	.	.	.	.	.	.	.	.	rs541266544	326/363	PASS	ENST00000589042	Transcript	.	T:0.0004	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.002	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu16828Ile,ENST00000359218,;TTN,missense_variant,p.Leu24127Ile,ENST00000591111,;TTN,missense_variant,p.Leu25768Ile,ENST00000589042,;TTN,missense_variant,p.Leu16895Ile,ENST00000342175,;TTN,missense_variant,p.Leu23200Ile,ENST00000342992,;TTN,missense_variant,p.Leu16703Ile,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	77527	78	107	SUCCESS
FZD7	8324	.	GRCh37	2	202900925	202900925	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	57	60	0	ENST00000286201.1:c.1555C>T	p.His519Tyr	p.H519Y	ENST00000286201	NM_003507.1	519	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS2351.1	1555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCACTTC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31,Pfam_domain:PF01534	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.95)	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,missense_variant,p.His519Tyr,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	1616	60	97	SUCCESS
CCDC108	0	.	GRCh37	2	219888857	219888857	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	27	156	0	ENST00000341552.5:c.2475T>G	p.Thr825=	p.T825=	ENST00000341552	NM_194302.3	825	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2430.2	2475	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAAGTGGG	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	.	.	ENSP00000340776	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,synonymous_variant,p.%3D,ENST00000453220,;CCDC108,synonymous_variant,p.%3D,ENST00000341552,;CCDC108,synonymous_variant,p.%3D,ENST00000441968,;CCDC108,upstream_gene_variant,,ENST00000413871,;CCDC108,downstream_gene_variant,,ENST00000409865,;CCDC108,downstream_gene_variant,,ENST00000410037,;CCDC108,downstream_gene_variant,,ENST00000462848,;CCDC108,downstream_gene_variant,,ENST00000474601,;CCDC108,downstream_gene_variant,,ENST00000463683,;	2559	156	210	SUCCESS
ABCB6	10058	.	GRCh37	2	220079752	220079752	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1481695656	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	80	0	ENST00000265316.3:c.1207A>G	p.Ile403Val	p.I403V	ENST00000265316	NM_005689.2	403	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2436.1	1207	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATGATGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000265316	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000265316	Transcript	.	.	ENSG00000115657	47	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(1)	.	ABCB6_HUMAN	ABCB6	HGNC	U3THN0_HUMAN,H7C1R6_HUMAN	.	UPI000004C4BA	SNV	ABCB6,missense_variant,p.Ile403Val,ENST00000265316,;ABCB6,missense_variant,p.Ile357Val,ENST00000439002,;ABCB6,missense_variant,p.Ile251Val,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000396761,;ATG9A,downstream_gene_variant,,ENST00000409618,;ABCB6,3_prime_UTR_variant,,ENST00000452545,;ABCB6,3_prime_UTR_variant,,ENST00000417678,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,non_coding_transcript_exon_variant,,ENST00000497882,;ABCB6,non_coding_transcript_exon_variant,,ENST00000492953,;ABCB6,non_coding_transcript_exon_variant,,ENST00000496984,;ABCB6,intron_variant,,ENST00000448398,;ABCB6,upstream_gene_variant,,ENST00000487380,;ABCB6,upstream_gene_variant,,ENST00000485773,;ABCB6,upstream_gene_variant,,ENST00000494639,;ABCB6,upstream_gene_variant,,ENST00000443805,;ABCB6,upstream_gene_variant,,ENST00000492543,;ATG9A,downstream_gene_variant,,ENST00000409033,;	1524	80	138	SUCCESS
AQP12A	375318	.	GRCh37	2	241631580	241631580	+	synonymous_variant	Silent	SNP	C	C	T	rs145149435	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	19	118	0	ENST00000337801.4:c.213C>T	p.His71=	p.H71=	ENST00000337801	NM_198998.2	71	caC/caT	0	T:0	A:0.0008	.	A:0	.	T	H	protein_coding	YES	.	213	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCACGGGGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR21191:SF8,hmmpanther:PTHR21191,Pfam_domain:PF00230,Gene3D:1.20.1080.10,PIRSF_domain:PIRSF017529,Superfamily_domains:SSF81338,Prints_domain:PR00783	A:0	T:0.0002	ENSP00000337144	A:0	2/4	.	.	.	.	.	.	.	.	rs145149435	2/4	PASS	ENST00000337801	Transcript	.	A:0.0002	ENSG00000184945	19941	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	AQ12A_HUMAN	AQP12A	HGNC	.	.	UPI00000743B9	SNV	AQP12A,synonymous_variant,p.%3D,ENST00000337801,;AQP12A,synonymous_variant,p.%3D,ENST00000429564,;AC011298.2,downstream_gene_variant,,ENST00000407635,;AC011298.2,downstream_gene_variant,,ENST00000600041,;AQP12A,upstream_gene_variant,,ENST00000474778,;AQP12A,upstream_gene_variant,,ENST00000471878,;AQP12A,upstream_gene_variant,,ENST00000460527,;	282	118	183	SUCCESS
ALK	238	.	GRCh37	2	29551276	29551276	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	62	187	1	ENST00000389048.3:c.1354G>T	p.Gly452Trp	p.G452W	ENST00000389048	NM_004304.4	452	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS33172.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCAAGCT	NONE	.	.	Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000373700	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.05)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Gly452Trp,ENST00000389048,;ALK,intron_variant,,ENST00000431873,;	2261	188	220	SUCCESS
CYP1B1	1545	.	GRCh37	2	38301854	38301854	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs762602306	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	265	23	267	0	ENST00000260630.3:c.678C>G	p.Ser226Arg	p.S226R	ENST00000260630	NM_000104.3	226	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS1793.1	678	MUTECT|MUSE	.	TTGTGGCTGAG	NONE	.	.	hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF0,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000260630	.	2/3	.	.	.	.	.	.	.	.	rs762602306	2/3	PASS	ENST00000260630	Transcript	.	.	ENSG00000138061	2597	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.851)	.	tolerated(0.11)	.	CP1B1_HUMAN	CYP1B1	HGNC	Q53TK1_HUMAN,D0EZN8_HUMAN,B8YIA8_HUMAN,B8YIA4_HUMAN	.	UPI000006222C	SNV	CYP1B1,missense_variant,p.Ser226Arg,ENST00000407341,;CYP1B1,missense_variant,p.Ser226Arg,ENST00000260630,;CYP1B1-AS1,upstream_gene_variant,,ENST00000589303,;CYP1B1-AS1,upstream_gene_variant,,ENST00000431999,;CYP1B1,intron_variant,,ENST00000462864,;CYP1B1,intron_variant,,ENST00000494864,;CYP1B1,downstream_gene_variant,,ENST00000490576,;CYP1B1,upstream_gene_variant,,ENST00000492443,;CYP1B1,upstream_gene_variant,,ENST00000491456,;	1080	267	288	SUCCESS
PNPT1	87178	.	GRCh37	2	55871841	55871846	+	inframe_deletion,NMD_transcript_variant	In_Frame_Del	DEL	GAACCT	GAACCT	-	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	GAACCT	GAACCT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	43	0	ENST00000415374.1:c.1832_1837del	p.Gln611_Val612del	p.Q611_V612del	ENST00000415374		611	cAGGTTCca/cca	0	.	.	.	.	.	-	QVP/P	protein_coding	YES	CCDS1856.1	1832-1837	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAATGGAACCTGAACA	NONE	.	.	Superfamily_domains:SSF54791,PIRSF_domain:PIRSF005499,SMART_domains:SM00322,Pfam_domain:PF00013,TIGRFAM_domain:TIGR03591,Gene3D:3.30.1370.10,hmmpanther:PTHR11252:SF0,hmmpanther:PTHR11252,PROSITE_profiles:PS50084	.	.	ENSP00000400646	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000447944	Transcript	.	.	ENSG00000138035	23166	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PNPT1_HUMAN	PNPT1	HGNC	.	.	UPI000020848E	deletion	PNPT1,inframe_deletion,p.Gln611_Val612del,ENST00000447944,;PNPT1,inframe_deletion,p.Gln611_Val612del,ENST00000415374,;PNPT1,3_prime_UTR_variant,,ENST00000260604,;PNPT1,non_coding_transcript_exon_variant,,ENST00000481066,;PNPT1,downstream_gene_variant,,ENST00000415489,;	1919-1924	43	50	SUCCESS
XPO1	7514	.	GRCh37	2	61719221	61719221	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	39	149	0	ENST00000401558.2:c.1836T>G	p.Asp612Glu	p.D612E	ENST00000401558	NM_003400.3	612	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS33205.1	1836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCATCAAT	NONE	.	.	hmmpanther:PTHR11223,Superfamily_domains:SSF48371	.	.	ENSP00000384863	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000401558	Transcript	.	.	ENSG00000082898	12825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.93)	.	XPO1_HUMAN	XPO1	HGNC	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN	.	UPI0000001C23	SNV	XPO1,missense_variant,p.Asp612Glu,ENST00000404992,;XPO1,missense_variant,p.Asp612Glu,ENST00000401558,;XPO1,missense_variant,p.Asp612Glu,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,downstream_gene_variant,,ENST00000469337,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000475744,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,upstream_gene_variant,,ENST00000461407,;	2564	149	129	SUCCESS
NOTO	344022	.	GRCh37	2	73438038	73438038	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	13	96	0	ENST00000398468.3:c.737A>C	p.Glu246Ala	p.E246A	ENST00000398468	NM_001134462.1	246	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS46335.1	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGAGTCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24337,hmmpanther:PTHR24337:SF18	.	.	ENSP00000381486	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000398468	Transcript	.	.	ENSG00000214513	31839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.01)	.	NOTO_HUMAN	NOTO	HGNC	.	.	UPI0000198CC1	SNV	NOTO,missense_variant,p.Glu246Ala,ENST00000398468,;SMYD5,upstream_gene_variant,,ENST00000389501,;SMYD5,upstream_gene_variant,,ENST00000443900,;SMYD5,upstream_gene_variant,,ENST00000474652,;SMYD5,upstream_gene_variant,,ENST00000413491,;SMYD5,upstream_gene_variant,,ENST00000258100,;	1146	96	89	SUCCESS
DCTN1	1639	.	GRCh37	2	74598683	74598683	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs112725508	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	109	0	ENST00000361874.3:c.626C>G	p.Pro209Arg	p.P209R	ENST00000361874	NM_004082.4	209	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS1939.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGGGGGG	NONE	byCluster	.	hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916	.	.	ENSP00000354791	.	8/32	.	.	.	.	.	.	.	.	rs112725508,COSM1409542	8/32	PASS	ENST00000361874	Transcript	.	.	ENSG00000204843	2711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.126)	.	tolerated(0.19)	0,1	DCTN1_HUMAN	DCTN1	HGNC	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN	.	UPI0000129A25	SNV	DCTN1,missense_variant,p.Pro75Arg,ENST00000407639,;DCTN1,missense_variant,p.Pro172Arg,ENST00000409240,;DCTN1,missense_variant,p.Pro202Arg,ENST00000394003,;DCTN1,missense_variant,p.Pro209Arg,ENST00000361874,;DCTN1,missense_variant,p.Pro189Arg,ENST00000409567,;DCTN1,missense_variant,p.Pro75Arg,ENST00000409438,;DCTN1,missense_variant,p.Pro192Arg,ENST00000409868,;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,non_coding_transcript_exon_variant,,ENST00000463583,;DCTN1,upstream_gene_variant,,ENST00000495643,;DCTN1,upstream_gene_variant,,ENST00000497666,;DCTN1,missense_variant,p.Pro172Arg,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000477966,;DCTN1,non_coding_transcript_exon_variant,,ENST00000470351,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,downstream_gene_variant,,ENST00000462813,;	944	109	89	SUCCESS
KDM3A	55818	.	GRCh37	2	86707311	86707311	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773852749	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	39	84	0	ENST00000312912.5:c.2338C>T	p.Pro780Ser	p.P780S	ENST00000312912	NM_018433.5	780	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS1990.1	2338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACCGACT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7	.	.	ENSP00000386660	.	17/27	.	.	.	.	.	.	.	.	rs773852749	17/27	PASS	ENST00000409556	Transcript	.	.	ENSG00000115548	20815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.53)	.	KDM3A_HUMAN	KDM3A	HGNC	C9JC73_HUMAN,C9J7Q7_HUMAN	.	UPI0000161FAE	SNV	KDM3A,missense_variant,p.Pro728Ser,ENST00000542128,;KDM3A,missense_variant,p.Pro780Ser,ENST00000409064,;KDM3A,missense_variant,p.Pro780Ser,ENST00000409556,;KDM3A,missense_variant,p.Pro780Ser,ENST00000312912,;KDM3A,upstream_gene_variant,,ENST00000462197,;KDM3A,3_prime_UTR_variant,,ENST00000441719,;	2703	84	78	SUCCESS
ATG7	10533	.	GRCh37	3	11406156	11406156	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	88	0	ENST00000354449.3:c.1823G>T	p.Ser608Ile	p.S608I	ENST00000354449	NM_006395.2	608	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS2605.1	1823	MUTECT|MUSE	.	CAGCAGTGACG	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF3,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01381,Superfamily_domains:SSF69572	.	.	ENSP00000346437	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000354449	Transcript	.	.	ENSG00000197548	16935	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.41)	.	tolerated(0.1)	.	ATG7_HUMAN	ATG7	HGNC	H7C059_HUMAN,C9JNU2_HUMAN,C9JKA3_HUMAN,C9JGL2_HUMAN,C9JFF4_HUMAN,C9JE55_HUMAN	.	UPI00000705C7	SNV	ATG7,missense_variant,p.Ser569Ile,ENST00000446450,;ATG7,missense_variant,p.Ser608Ile,ENST00000354449,;ATG7,missense_variant,p.Ser9Ile,ENST00000427759,;ATG7,missense_variant,p.Ser9Ile,ENST00000414717,;ATG7,missense_variant,p.Ser9Ile,ENST00000446110,;ATG7,missense_variant,p.Ser608Ile,ENST00000354956,;ATG7,downstream_gene_variant,,ENST00000467121,;	1848	88	78	SUCCESS
IQSEC1	9922	.	GRCh37	3	12944273	12944273	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	209	16	229	0	ENST00000273221.4:c.2847A>C	p.Glu949Asp	p.E949D	ENST00000273221	NM_014869.5	949	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS33703.1	2847	MUTECT|MUSE	.	CTTACTTCCAC	NONE	.	.	hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663	.	.	ENSP00000273221	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000273221	Transcript	.	.	ENSG00000144711	29112	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	IQEC1_HUMAN	IQSEC1	HGNC	.	.	UPI00003E1F36	SNV	IQSEC1,missense_variant,p.Glu935Asp,ENST00000429247,;IQSEC1,missense_variant,p.Glu949Asp,ENST00000273221,;IQSEC1,intron_variant,,ENST00000450726,;	3064	229	226	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	172	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	172	109	SUCCESS
TMF1	7110	.	GRCh37	3	69101099	69101099	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1413380367	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	72	0	ENST00000398559.2:c.139C>T	p.Pro47Ser	p.P47S	ENST00000398559		47	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS43105.1	139	MUTECT|MUSE	.	ACCCGGCTCTC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285	.	.	ENSP00000381567	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000398559	Transcript	.	.	ENSG00000144747	11870	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.034)	.	tolerated_low_confidence(0.07)	.	TMF1_HUMAN	TMF1	HGNC	.	.	UPI000013D9A7	SNV	TMF1,missense_variant,p.Pro47Ser,ENST00000398559,;TMF1,missense_variant,p.Pro47Ser,ENST00000543976,;UBA3,downstream_gene_variant,,ENST00000361055,;UBA3,downstream_gene_variant,,ENST00000415609,;UBA3,downstream_gene_variant,,ENST00000349511,;UBA3,downstream_gene_variant,,ENST00000540295,;MIR3136,upstream_gene_variant,,ENST00000583498,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,downstream_gene_variant,,ENST00000596523,;CTD-2013N24.2,downstream_gene_variant,,ENST00000596732,;CTD-2013N24.2,downstream_gene_variant,,ENST00000598783,;CTD-2013N24.2,downstream_gene_variant,,ENST00000597950,;CTD-2013N24.2,downstream_gene_variant,,ENST00000601735,;CTD-2013N24.2,downstream_gene_variant,,ENST00000482368,;CTD-2013N24.2,downstream_gene_variant,,ENST00000596274,;TMF1,missense_variant,p.Pro47Ser,ENST00000488010,;UBA3,downstream_gene_variant,,ENST00000465627,;UBA3,downstream_gene_variant,,ENST00000461934,;	356	72	62	SUCCESS
ATP10D	57205	.	GRCh37	4	47527592	47527592	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	43	83	0	ENST00000273859.3:c.709G>A	p.Glu237Lys	p.E237K	ENST00000273859	NM_020453.3	237	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3476.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTGAGAAG	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122	.	.	ENSP00000273859	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	tolerated(0.18)	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,missense_variant,p.Glu237Lys,ENST00000504445,;ATP10D,missense_variant,p.Glu237Lys,ENST00000273859,;	978	83	86	SUCCESS
CCNG2	901	.	GRCh37	4	78087026	78087026	+	synonymous_variant	Silent	SNP	C	C	T	rs75208252	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	41	0	ENST00000316355.5:c.984C>T	p.Cys328=	p.C328=	ENST00000316355	NM_004354.2	328	tgC/tgT	0	.	T:0	.	T:0	.	T	C	protein_coding	YES	CCDS3581.1	984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGCACCTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10177:SF60,hmmpanther:PTHR10177	T:0.003	.	ENSP00000315743	T:0	8/8	.	.	.	.	.	.	.	.	rs75208252	8/8	PASS	ENST00000316355	Transcript	.	T:0.0006	ENSG00000138764	1593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CCNG2_HUMAN	CCNG2	HGNC	Q6FGC6_HUMAN,D6RHI3_HUMAN	.	UPI00001275D4	SNV	CCNG2,synonymous_variant,p.%3D,ENST00000395640,;CCNG2,synonymous_variant,p.%3D,ENST00000316355,;CCNG2,synonymous_variant,p.%3D,ENST00000502280,;CCNG2,intron_variant,,ENST00000354403,;CCNG2,downstream_gene_variant,,ENST00000512918,;CCNG2,downstream_gene_variant,,ENST00000509972,;CCNG2,intron_variant,,ENST00000497512,;	1340	41	33	SUCCESS
DMXL1	1657	.	GRCh37	5	118485628	118485628	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776741081	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	76	0	ENST00000311085.8:c.4106G>A	p.Arg1369His	p.R1369H	ENST00000311085	NM_005509.4	1369	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4125.1	4106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACGCCGCC	NONE	.	.	hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Pfam_domain:PF12234	.	.	ENSP00000309690	.	18/43	.	.	.	.	.	.	.	.	rs776741081,COSM1059963,COSM4127315	18/43	PASS	ENST00000311085	Transcript	.	.	ENSG00000172869	2937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.982)	.	deleterious(0)	0,1,1	DMXL1_HUMAN	DMXL1	HGNC	F1T0K4_HUMAN,E7EMZ0_HUMAN	.	UPI000013F0EC	SNV	DMXL1,missense_variant,p.Arg1369His,ENST00000539542,;DMXL1,missense_variant,p.Arg1369His,ENST00000311085,;MIR5706,upstream_gene_variant,,ENST00000579841,;DMXL1,downstream_gene_variant,,ENST00000512281,;	4186	76	76	SUCCESS
CTXN3	613212	.	GRCh37	5	126993411	126993411	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	138	0	ENST00000379445.3:c.198T>C	p.Asp66=	p.D66=	ENST00000379445	NM_001048252.2	66	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS34221.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGATGGACT	NONE	.	.	Pfam_domain:PF11057,hmmpanther:PTHR16736:SF1,hmmpanther:PTHR16736	.	.	ENSP00000368758	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379445	Transcript	.	.	ENSG00000205279	31110	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTXN3_HUMAN	CTXN3	HGNC	.	.	UPI000003ED31	SNV	CTXN3,synonymous_variant,p.%3D,ENST00000379445,;CTXN3,synonymous_variant,p.%3D,ENST00000395322,;CTC-548H10.2,intron_variant,,ENST00000512352,;CTXN3,downstream_gene_variant,,ENST00000514851,;	749	138	103	SUCCESS
STK32A	202374	.	GRCh37	5	146750236	146750236	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	99	0	ENST00000397936.3:c.680C>G	p.Ser227Cys	p.S227C	ENST00000397936	NM_001112724.1	227	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS47299.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTCCAGTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF143,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000381030	.	9/13	.	.	.	.	.	.	.	.	COSM590706	9/13	PASS	ENST00000397936	Transcript	.	.	ENSG00000169302	28317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	ST32A_HUMAN	STK32A	HGNC	.	.	UPI000003FDBE	SNV	STK32A,missense_variant,p.Ser227Cys,ENST00000398523,;STK32A,missense_variant,p.Ser227Cys,ENST00000397936,;STK32A,non_coding_transcript_exon_variant,,ENST00000306304,;	1013	99	67	SUCCESS
CWC27	10283	.	GRCh37	5	64267604	64267604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	39	241	0	ENST00000381070.3:c.1117C>A	p.Gln373Lys	p.Q373K	ENST00000381070	NM_005869.2	373	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3982.2	1117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCAACAG	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000370460	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,missense_variant,p.Gln373Lys,ENST00000381070,;CWC27,non_coding_transcript_exon_variant,,ENST00000545000,;	1334	241	199	SUCCESS
COL12A1	1303	.	GRCh37	6	75866111	75866111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	30	197	0	ENST00000322507.8:c.3112C>A	p.Gln1038Lys	p.Q1038K	ENST00000322507	NM_004370.5	1038	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS43482.1	3112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGCTTCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	15/66	.	.	.	.	.	.	.	.	.	15/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Gln1038Lys,ENST00000416123,;COL12A1,missense_variant,p.Gln1038Lys,ENST00000322507,;COL12A1,missense_variant,p.Gln1038Lys,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000419671,;	3422	198	144	SUCCESS
ANKRD6	22881	.	GRCh37	6	90312775	90312775	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	69	0	ENST00000339746.4:c.247A>C	p.Thr83Pro	p.T83P	ENST00000339746	NM_001242809.1	83	Aca/Cca	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS56441.1	247	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACAGTG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24203,hmmpanther:PTHR24203:SF0,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000430985	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000522441	Transcript	.	.	ENSG00000135299	17280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.427)	.	deleterious(0.01)	.	ANKR6_HUMAN	ANKRD6	HGNC	E5RJR9_HUMAN,E5RJ45_HUMAN,E5RIS1_HUMAN,E5RIJ4_HUMAN	.	UPI000020D325	SNV	ANKRD6,missense_variant,p.Thr83Pro,ENST00000522441,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000523798,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000447838,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000369408,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000522705,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000485637,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000465722,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000520793,;ANKRD6,missense_variant,p.Thr83Pro,ENST00000339746,;ANKRD6,missense_variant,p.Thr50Pro,ENST00000522779,;ANKRD6,intron_variant,,ENST00000518150,;ANKRD6,downstream_gene_variant,,ENST00000520458,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000520886,;LYRM2,intron_variant,,ENST00000520897,;LYRM2,3_prime_UTR_variant,,ENST00000412237,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000518253,;	888	69	51	SUCCESS
PHF14	9678	.	GRCh37	7	11082380	11082380	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	62	0	ENST00000403050.3:c.2251C>G	p.His751Asp	p.H751D	ENST00000403050	NM_014660.3	751	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS47542.1	2251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACCATCTT	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR13793:SF10,hmmpanther:PTHR13793,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000385795	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000403050	Transcript	.	.	ENSG00000106443	22203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0)	.	PHF14_HUMAN	PHF14	HGNC	.	.	UPI000020EB41	SNV	PHF14,missense_variant,p.His466Asp,ENST00000445996,;PHF14,missense_variant,p.His751Asp,ENST00000403050,;PHF14,non_coding_transcript_exon_variant,,ENST00000481418,;PHF14,3_prime_UTR_variant,,ENST00000521747,;PHF14,3_prime_UTR_variant,,ENST00000423760,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;	2703	62	79	SUCCESS
RP11-1220K2.2	0	.	GRCh37	7	141896605	141896605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	16	9	0	ENST00000477922.3:c.4621A>T	p.Ile1541Phe	p.I1541F	ENST00000477922		1541	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	.	.	4621	MUTECT|MUSE|VARSCANS	.	ACAACATCGGG	NONE	.	.	hmmpanther:PTHR22762:SF55,hmmpanther:PTHR22762,Pfam_domain:PF01055,Superfamily_domains:SSF51445	.	.	ENSP00000420449	.	40/48	.	.	.	.	.	.	.	.	.	40/48	PASS	ENST00000477922	Transcript	.	.	ENSG00000257743	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.095)	.	.	.	.	RP11-1220K2.2	Clone_based_vega_gene	C9JNC2_HUMAN	.	UPI0002B8321D	SNV	RP11-1220K2.2,missense_variant,p.Ile1541Phe,ENST00000477922,;RP11-1220K2.2,non_coding_transcript_exon_variant,,ENST00000496337,;	4675	9	24	SUCCESS
TAS2R41	259287	.	GRCh37	7	143175109	143175109	+	synonymous_variant	Silent	SNP	C	C	T	rs1337659558	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	86	101	0	ENST00000408916.1:c.144C>T	p.Leu48=	p.L48=	ENST00000408916	NM_176883.2	48	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43663.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCATTAG	NONE	.	.	hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000386201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408916	Transcript	.	.	ENSG00000221855	18883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T2R41_HUMAN	TAS2R41	HGNC	.	.	UPI000000D823	SNV	TAS2R41,synonymous_variant,p.%3D,ENST00000408916,;EPHA1-AS1,intron_variant,,ENST00000429289,;	144	101	143	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146536879	146536879	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	114	1	ENST00000361727.3:c.285C>G	p.Ile95Met	p.I95M	ENST00000361727	NM_014141.5	95	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS5889.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCAGTGC	BUFFER|p.R92Q|c.275G>A|4	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000354778	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	deleterious(0)	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,missense_variant,p.Ile95Met,ENST00000361727,;	801	115	161	SUCCESS
KCNH2	3757	.	GRCh37	7	150646082	150646082	+	synonymous_variant	Silent	SNP	C	C	T	rs72549418	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	29	119	0	ENST00000262186.5:c.2454G>A	p.Ser818=	p.S818=	ENST00000262186	NM_000238.3	818	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5910.1	2454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTCGACTT	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206	.	.	ENSP00000262186	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,synonymous_variant,p.%3D,ENST00000262186,;KCNH2,synonymous_variant,p.%3D,ENST00000330883,;KCNH2,synonymous_variant,p.%3D,ENST00000392968,;KCNH2,downstream_gene_variant,,ENST00000430723,;KCNH2,downstream_gene_variant,,ENST00000532957,;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000461280,;	2856	119	156	SUCCESS
AMPH	273	.	GRCh37	7	38429486	38429486	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	64	0	ENST00000356264.2:c.1899T>C	p.Phe633=	p.F633=	ENST00000356264	NM_001635.3	633	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS5456.1	1899	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAAAATC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000348602	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,synonymous_variant,p.%3D,ENST00000356264,;AMPH,synonymous_variant,p.%3D,ENST00000428293,;AMPH,synonymous_variant,p.%3D,ENST00000441628,;AMPH,synonymous_variant,p.%3D,ENST00000325590,;AMPH,non_coding_transcript_exon_variant,,ENST00000460887,;AMPH,downstream_gene_variant,,ENST00000471913,;AMPH,downstream_gene_variant,,ENST00000467580,;AMPH,downstream_gene_variant,,ENST00000450124,;AMPH,downstream_gene_variant,,ENST00000475581,;AMPH,downstream_gene_variant,,ENST00000462072,;	2115	64	55	SUCCESS
AMPH	273	.	GRCh37	7	38457535	38457535	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747862983,rs752059132	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	77	0	ENST00000356264.2:c.1288G>C	p.Ala430Pro	p.A430P	ENST00000356264	NM_001635.3	430	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS5456.1	1288	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCTGTT	NONE	.	.	hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23	.	.	ENSP00000348602	.	17/21	.	.	.	.	.	.	.	.	rs747862983,rs752059132	17/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.06)	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Ala430Pro,ENST00000356264,;AMPH,intron_variant,,ENST00000428293,;AMPH,intron_variant,,ENST00000441628,;AMPH,intron_variant,,ENST00000325590,;AMPH,intron_variant,,ENST00000471913,;AMPH,intron_variant,,ENST00000467580,;AMPH,non_coding_transcript_exon_variant,,ENST00000462072,;AMPH,non_coding_transcript_exon_variant,,ENST00000475581,;AMPH,intron_variant,,ENST00000450124,;	1504	78	81	SUCCESS
AC004951.5	0	.	GRCh37	7	44027730	44027732	+	non_coding_transcript_exon_variant	RNA	DEL	TGT	TGT	-	rs767044422	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	TGT	TGT	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	24	0	ENST00000420754.2:n.228_230del		p.*76*	ENST00000420754				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGAGATGTTGTGG	NONE	.	.	.	.	.	.	.	4/9	.	.	.	.	.	.	.	.	rs767044422	4/9	PASS	ENST00000422304	Transcript	.	.	ENSG00000214783	28195	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	POLR2J4	HGNC	.	.	.	deletion	POLR2J4,non_coding_transcript_exon_variant,,ENST00000422304,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000427076,;RP5-1165K10.2,intron_variant,,ENST00000454572,;AC004951.5,non_coding_transcript_exon_variant,,ENST00000420754,;	407-409	24	42	SUCCESS
NACAD	23148	.	GRCh37	7	45123003	45123004	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	58	0	ENST00000490531.2:c.2775_2776delinsG	p.Leu926CysfsTer44	p.L926Cfs*44	ENST00000490531	NM_001146334.1	925	ccTCtg/ccGtg	0	.	.	.	.	.	C	PL/PX	protein_coding	YES	CCDS47582.1	2775-2776	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GAGGCAGAGGTGC	NONE	.	.	hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713	.	.	ENSP00000420477	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	substitution	NACAD,frameshift_variant,p.Leu926CysfsTer44,ENST00000490531,;NACAD,upstream_gene_variant,,ENST00000460409,;	2795-2796	58	92	SUCCESS
MCM7	4176	.	GRCh37	7	99699318	99699318	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	87	117	0	ENST00000303887.5:c.-401C>G		p.*134*	ENST00000303887	NM_001278595.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5685.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGTCTAC	NONE	.	.	.	.	.	ENSP00000352603	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000359593	Transcript	.	.	ENSG00000221838	574	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP4M1_HUMAN	AP4M1	HGNC	C9IZL5_HUMAN,B4DKN7_HUMAN	.	UPI000006D1C7	SNV	AP4M1,5_prime_UTR_variant,,ENST00000359593,;MCM7,5_prime_UTR_variant,,ENST00000303887,;AP4M1,5_prime_UTR_variant,,ENST00000438383,;MCM7,5_prime_UTR_variant,,ENST00000343023,;AP4M1,5_prime_UTR_variant,,ENST00000421755,;AP4M1,5_prime_UTR_variant,,ENST00000429084,;AP4M1,5_prime_UTR_variant,,ENST00000439416,;AP4M1,upstream_gene_variant,,ENST00000422582,;MCM7,upstream_gene_variant,,ENST00000425308,;MCM7,upstream_gene_variant,,ENST00000354230,;AP4M1,upstream_gene_variant,,ENST00000450807,;AP4M1,upstream_gene_variant,,ENST00000445295,;AP4M1,non_coding_transcript_exon_variant,,ENST00000478501,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,5_prime_UTR_variant,,ENST00000446007,;AP4M1,5_prime_UTR_variant,,ENST00000445208,;AP4M1,5_prime_UTR_variant,,ENST00000394061,;MCM7,upstream_gene_variant,,ENST00000467516,;MCM7,upstream_gene_variant,,ENST00000465738,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,upstream_gene_variant,,ENST00000491245,;MCM7,upstream_gene_variant,,ENST00000463722,;MCM7,upstream_gene_variant,,ENST00000477372,;MCM7,upstream_gene_variant,,ENST00000485286,;MCM7,upstream_gene_variant,,ENST00000465688,;MCM7,upstream_gene_variant,,ENST00000489841,;AP4M1,upstream_gene_variant,,ENST00000489387,;AP4M1,upstream_gene_variant,,ENST00000479916,;	139	118	172	SUCCESS
NR4A3	8013	.	GRCh37	9	102595577	102595577	+	synonymous_variant	Silent	SNP	T	T	C	rs552211074	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	5	128	0	ENST00000395097.2:c.1095T>C	p.Asp365=	p.D365=	ENST00000395097	NM_173200.2	365	gaT/gaC	0	.	C:0	.	C:0	.	C	D	protein_coding	YES	CCDS6742.1	1128	MUTECT|MUSE	.	ACAGATAGTCT	NONE	byFrequency|by1000G	.	Prints_domain:PR01284,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716,Gene3D:1.10.565.10,hmmpanther:PTHR24085:SF2,hmmpanther:PTHR24085	C:0	.	ENSP00000333122	C:0	4/7	.	.	.	.	.	.	.	.	rs552211074	4/7	common_in_exac	ENST00000330847	Transcript	.	C:0.0008	ENSG00000119508	7982	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.0041	.	.	NR4A3_HUMAN	NR4A3	HGNC	.	.	UPI0000160FE4	SNV	NR4A3,synonymous_variant,p.%3D,ENST00000330847,;NR4A3,synonymous_variant,p.%3D,ENST00000338488,;NR4A3,synonymous_variant,p.%3D,ENST00000395097,;	1172	128	119	SUCCESS
ACTL7B	10880	.	GRCh37	9	111617803	111617803	+	synonymous_variant	Silent	SNP	G	G	A	rs1315798846	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	69	0	ENST00000374667.3:c.408C>T	p.Thr136=	p.T136=	ENST00000374667	NM_006686.3	136	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6771.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGGTGCG	NONE	.	.	hmmpanther:PTHR11937:SF59,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000363799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374667	Transcript	.	.	ENSG00000148156	162	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACL7B_HUMAN	ACTL7B	HGNC	.	.	UPI0000125053	SNV	ACTL7B,synonymous_variant,p.%3D,ENST00000374667,;	1437	69	80	SUCCESS
FBXW5	54461	.	GRCh37	9	139836598	139836598	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	49	0	ENST00000325285.3:c.996C>G	p.Ala332=	p.A332=	ENST00000325285	NM_018998.3	332	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS7014.1	996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGGCCAG	NONE	.	.	hmmpanther:PTHR20995,hmmpanther:PTHR20995:SF15	.	.	ENSP00000313034	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000325285	Transcript	.	.	ENSG00000159069	13613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW5_HUMAN	FBXW5	HGNC	.	.	UPI000006EC75	SNV	FBXW5,synonymous_variant,p.%3D,ENST00000325285,;FBXW5,synonymous_variant,p.%3D,ENST00000433269,;FBXW5,downstream_gene_variant,,ENST00000443788,;C8G,upstream_gene_variant,,ENST00000224181,;C8G,upstream_gene_variant,,ENST00000371634,;FBXW5,downstream_gene_variant,,ENST00000428398,;RP11-229P13.25,upstream_gene_variant,,ENST00000569497,;FBXW5,non_coding_transcript_exon_variant,,ENST00000483559,;FBXW5,non_coding_transcript_exon_variant,,ENST00000487794,;FBXW5,non_coding_transcript_exon_variant,,ENST00000459905,;FBXW5,downstream_gene_variant,,ENST00000491246,;FBXW5,downstream_gene_variant,,ENST00000480818,;C8G,upstream_gene_variant,,ENST00000465773,;C8G,upstream_gene_variant,,ENST00000484376,;RP11-229P13.2,downstream_gene_variant,,ENST00000395082,;	1076	49	66	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39178325	39178325	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	570	13	446	0	ENST00000297668.6:c.571G>A	p.Ala191Thr	p.A191T	ENST00000297668	NM_033655.3	191	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6616.1	571	MUTECT|MUSE	.	CAGAGCACTTT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000297668	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.09)	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,missense_variant,p.Ala191Thr,ENST00000377656,;CNTNAP3,missense_variant,p.Ala191Thr,ENST00000377659,;CNTNAP3,missense_variant,p.Ala103Thr,ENST00000358144,;CNTNAP3,missense_variant,p.Ala191Thr,ENST00000297668,;CNTNAP3,missense_variant,p.Ala191Thr,ENST00000323947,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000377653,;CNTNAP3,missense_variant,p.Ala191Thr,ENST00000443583,;RP11-290L7.3,upstream_gene_variant,,ENST00000425044,;	645	446	584	SUCCESS
ROR2	4920	.	GRCh37	9	94487147	94487147	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	43	0	ENST00000375708.3:c.1629G>A	p.Val543=	p.V543=	ENST00000375708	NM_004560.3	543	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6691.1	1629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCACCAC	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000624,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000364860	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375715,;ROR2,synonymous_variant,p.%3D,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	1828	43	45	SUCCESS
RBMXL3	139804	.	GRCh37	X	114427021	114427021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	58	293	0	ENST00000424776.3:c.3017G>A	p.Gly1006Asp	p.G1006D	ENST00000424776	NM_001145346.1	1006	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS55478.1	3017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACGGCCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated_low_confidence(0.06)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Gly1006Asp,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	3059	294	240	SUCCESS
NKAP	79576	.	GRCh37	X	119059265	119059267	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	101	0	ENST00000371410.3:c.1164_1166del	p.Glu389del	p.E389del	ENST00000371410	NM_024528.3	388	gaAGAg/gag	0	.	.	.	.	.	-	EE/E	protein_coding	YES	CCDS14592.1	1164-1166	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTCTCTCTTCTTG	NONE	.	.	Pfam_domain:PF06047,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF2	.	.	ENSP00000360464	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371410	Transcript	.	.	ENSG00000101882	29873	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NKAP_HUMAN	NKAP	HGNC	.	.	UPI000004A07B	deletion	NKAP,inframe_deletion,p.Glu389del,ENST00000371410,;AKAP14,downstream_gene_variant,,ENST00000371425,;AKAP14,downstream_gene_variant,,ENST00000334356,;AKAP14,downstream_gene_variant,,ENST00000371431,;AKAP14,downstream_gene_variant,,ENST00000371423,;AC002477.1,upstream_gene_variant,,ENST00000581061,;RP3-327A19.5,upstream_gene_variant,,ENST00000455986,;NKAP,non_coding_transcript_exon_variant,,ENST00000477789,;AKAP14,downstream_gene_variant,,ENST00000491105,;NKAP,downstream_gene_variant,,ENST00000482407,;	1331-1333	101	92	SUCCESS
GPR112	0	.	GRCh37	X	135428654	135428654	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	102	235	0	ENST00000370652.1:c.2789T>C	p.Met930Thr	p.M930T	ENST00000370652		930	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS35409.1	2789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATGTTTA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Met867Thr,ENST00000287534,;GPR112,missense_variant,p.Met930Thr,ENST00000370652,;GPR112,missense_variant,p.Met930Thr,ENST00000394143,;GPR112,missense_variant,p.Met725Thr,ENST00000394141,;GPR112,missense_variant,p.Met725Thr,ENST00000412101,;	3080	235	195	SUCCESS
PLXNB3	5365	.	GRCh37	X	153039448	153039448	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	39	112	1	ENST00000361971.5:c.3414G>T	p.Gly1138=	p.G1138=	ENST00000361971	NM_005393.2	1138	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS55536.1	3483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGGGCCA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000442736	.	21/37	.	.	.	.	.	.	.	.	.	21/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,synonymous_variant,p.%3D,ENST00000538282,;PLXNB3,synonymous_variant,p.%3D,ENST00000538966,;PLXNB3,synonymous_variant,p.%3D,ENST00000538776,;PLXNB3,synonymous_variant,p.%3D,ENST00000361971,;PLXNB3,downstream_gene_variant,,ENST00000538543,;PLXNB3,upstream_gene_variant,,ENST00000411613,;PLXNB3,upstream_gene_variant,,ENST00000455214,;PLXNB3,upstream_gene_variant,,ENST00000448847,;SRPK3,upstream_gene_variant,,ENST00000489426,;PLXNB3,upstream_gene_variant,,ENST00000472415,;PLXNB3,upstream_gene_variant,,ENST00000469190,;PLXNB3,upstream_gene_variant,,ENST00000482654,;PLXNB3,upstream_gene_variant,,ENST00000485980,;	3754	113	109	SUCCESS
CXorf23	0	.	GRCh37	X	19983768	19983768	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	139	1	ENST00000379687.3:c.668A>T	p.Asp223Val	p.D223V	ENST00000379687	NM_198279.3	223	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS14194.2	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGTCTTTA	NONE	.	.	hmmpanther:PTHR15268:SF9,hmmpanther:PTHR15268,Pfam_domain:PF15440	.	.	ENSP00000369009	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000379687	Transcript	.	.	ENSG00000173681	27413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	deleterious(0)	.	CX023_HUMAN	CXorf23	HGNC	.	.	UPI0000458B03	SNV	CXorf23,missense_variant,p.Asp223Val,ENST00000379687,;CXorf23,missense_variant,p.Asp223Val,ENST00000356980,;CXorf23,missense_variant,p.Asp223Val,ENST00000379682,;CXorf23,upstream_gene_variant,,ENST00000340625,;CXorf23,upstream_gene_variant,,ENST00000472158,;	702	140	141	SUCCESS
RPGR	6103	.	GRCh37	X	38150276	38150276	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs374555833	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	69	331	0	ENST00000339363.3:c.1508C>A	p.Thr503Lys	p.T503K	ENST00000339363		503	aCa/aAa	0	C:0	.	.	.	.	T	T/K	protein_coding	YES	CCDS35229.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGTCTGA	NONE	byCluster	.	hmmpanther:PTHR22870:SF129,hmmpanther:PTHR22870	.	C:0.0001	ENSP00000367766	.	13/15	.	.	.	.	.	.	.	.	rs374555833	13/15	PASS	ENST00000378505	Transcript	.	.	ENSG00000156313	10295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	RPGR_HUMAN	RPGR	HGNC	.	.	UPI00005D3C95	SNV	RPGR,missense_variant,p.Thr503Lys,ENST00000318842,;RPGR,missense_variant,p.Thr503Lys,ENST00000339363,;RPGR,missense_variant,p.Thr503Lys,ENST00000342811,;RPGR,missense_variant,p.Thr441Lys,ENST00000309513,;RPGR,missense_variant,p.Asp472Glu,ENST00000338898,;RPGR,missense_variant,p.Thr503Lys,ENST00000378505,;RPGR,missense_variant,p.Thr26Lys,ENST00000494707,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,missense_variant,p.Asp472Glu,ENST00000474584,;RPGR,missense_variant,p.Thr503Lys,ENST00000482855,;	1685	332	361	SUCCESS
PFKFB1	5207	.	GRCh37	X	54978348	54978348	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747386480	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	63	0	ENST00000375006.3:c.836G>A	p.Arg279His	p.R279H	ENST00000375006	NM_001271804.1	279	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14364.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGCGAACT	NONE	byFrequency	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF53254	.	.	ENSP00000364145	.	8/14	.	.	.	.	.	.	.	.	rs747386480	8/14	PASS	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Arg214His,ENST00000545676,;PFKFB1,missense_variant,p.Arg279His,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	907	63	75	SUCCESS
GJB1	2705	.	GRCh37	X	70443636	70443637	+	inframe_insertion	In_Frame_Ins	INS	-	-	TCATCT	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	109	0	ENST00000361726.6:c.89_94dup	p.Ile30_Phe31dup	p.I30_F31dup	ENST00000361726	NM_000166.5	30	gtc/gTCATCTtc	0	.	.	.	.	.	TCATCT	V/VIF	protein_coding	YES	CCDS14408.1	79-80	INDELOCATOR|VARSCANI	.	TCTCGGTCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF20,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206	.	.	ENSP00000363134	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374022	Transcript	.	.	ENSG00000169562	4283	15	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXB1_HUMAN	GJB1	HGNC	C9JWU8_HUMAN	.	UPI0000001C7E	insertion	GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000447581,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000361726,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000374029,;GJB1,inframe_insertion,p.Ile30_Phe31dup,ENST00000374022,;	174-175	109	82	SUCCESS
TBX22	50945	.	GRCh37	X	79283514	79283514	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	16	123	1	ENST00000373294.5:c.888G>T	p.Glu296Asp	p.E296D	ENST00000373294	NM_016954.2	296	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS14445.1	888	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAGACCTA	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97	.	.	ENSP00000362390	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000373294	Transcript	.	.	ENSG00000122145	11600	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.194)	.	tolerated(0.06)	.	TBX22_HUMAN	TBX22	HGNC	C3TX51_HUMAN	.	UPI00001377ED	SNV	TBX22,missense_variant,p.Glu176Asp,ENST00000373291,;TBX22,missense_variant,p.Glu296Asp,ENST00000373294,;TBX22,missense_variant,p.Glu176Asp,ENST00000442340,;TBX22,missense_variant,p.Glu296Asp,ENST00000373296,;	916	125	109	SUCCESS
CHUK	1147	.	GRCh37	10	101950685	101950685	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	20	107	0	ENST00000370397.7:c.2149C>A	p.Leu717Ile	p.L717I	ENST00000370397	NM_001278.3	717	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS7488.1	2149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAGGCAGT	NONE	.	.	hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,Pfam_domain:PF12179	.	.	ENSP00000359424	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	tolerated(0.53)	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	SNV	CHUK,missense_variant,p.Leu717Ile,ENST00000370397,;ERLIN1,upstream_gene_variant,,ENST00000370408,;ERLIN1,upstream_gene_variant,,ENST00000407654,;ERLIN1,upstream_gene_variant,,ENST00000421367,;RP11-316M21.7,downstream_gene_variant,,ENST00000443919,;CHUK,non_coding_transcript_exon_variant,,ENST00000588656,;CHUK,non_coding_transcript_exon_variant,,ENST00000585551,;CHUK,non_coding_transcript_exon_variant,,ENST00000590930,;	2236	107	114	SUCCESS
NEURL1	9148	.	GRCh37	10	105254180	105254180	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	78	198	0	ENST00000369780.4:c.36C>T	p.Pro12=	p.P12=	ENST00000369780	NM_004210.4	12	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7551.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCCGAGG	NONE	.	.	hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF4	.	.	ENSP00000358795	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000369780	Transcript	.	.	ENSG00000107954	7761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEU1A_HUMAN	NEURL1	HGNC	B4DS86_HUMAN	.	UPI0000073F46	SNV	NEURL1,synonymous_variant,p.%3D,ENST00000369780,;RP11-225H22.5,intron_variant,,ENST00000453753,;	445	198	243	SUCCESS
CUBN	8029	.	GRCh37	10	16955931	16955931	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1467349581	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	51	0	ENST00000377833.4:c.7412C>G	p.Pro2471Arg	p.P2471R	ENST00000377833	NM_001081.3	2471	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS7113.1	7412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTGGGTTC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	48/67	.	.	.	.	.	.	.	.	.	48/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.13)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Pro2471Arg,ENST00000377833,;	7478	51	47	SUCCESS
CUBN	8029	.	GRCh37	10	17142085	17142085	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	73	220	0	ENST00000377833.4:c.1684A>G	p.Asn562Asp	p.N562D	ENST00000377833	NM_001081.3	562	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS7113.1	1684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATTGTCAC	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	14/67	.	.	.	.	.	.	.	.	.	14/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.02)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Asn562Asp,ENST00000377833,;	1750	220	223	SUCCESS
FRMPD2	143162	.	GRCh37	10	49381086	49381086	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs1246780858	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	133	299	0	ENST00000374201.3:c.3126T>A	p.Cys1042Ter	p.C1042*	ENST00000374201	NM_001018071.3	1042	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS31195.1	3126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGACACTG	NONE	.	.	hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964	.	.	ENSP00000363317	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,stop_gained,p.Cys1017Ter,ENST00000305531,;FRMPD2,stop_gained,p.Cys1042Ter,ENST00000374201,;FRMPD2,stop_gained,p.Cys1010Ter,ENST00000407470,;FRMPD2,5_prime_UTR_variant,,ENST00000474573,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000463706,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000491130,;FRMPD2,downstream_gene_variant,,ENST00000486151,;FRMPD2,downstream_gene_variant,,ENST00000477710,;	3429	299	276	SUCCESS
SLC16A9	220963	.	GRCh37	10	61412663	61412663	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	218	104	250	0	ENST00000395347.1:c.1397T>A	p.Phe466Tyr	p.F466Y	ENST00000395347		466	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS7256.1	1397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTAAAATAA	NONE	.	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix	.	.	ENSP00000378757	.	6/6	.	.	.	.	.	.	.	.	COSM126198	6/6	PASS	ENST00000395348	Transcript	.	.	ENSG00000165449	23520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.974)	.	deleterious(0)	1	MOT9_HUMAN	SLC16A9	HGNC	.	.	UPI000004D33D	SNV	SLC16A9,missense_variant,p.Phe466Tyr,ENST00000395347,;SLC16A9,missense_variant,p.Phe466Tyr,ENST00000395348,;	2034	250	322	SUCCESS
REEP3	221035	.	GRCh37	10	65281265	65281265	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	44	0	ENST00000373758.4:c.-41C>T		p.*14*	ENST00000373758	NM_001001330.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44411.1	.	MUTECT|MUSE	.	CCCTGCGCCCA	NONE	.	.	.	.	.	ENSP00000362863	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000373758	Transcript	.	.	ENSG00000165476	23711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REEP3_HUMAN	REEP3	HGNC	.	.	UPI00000373BA	SNV	REEP3,5_prime_UTR_variant,,ENST00000373758,;REEP3,5_prime_UTR_variant,,ENST00000298249,;	143	44	58	SUCCESS
LRIT1	26103	.	GRCh37	10	85997354	85997354	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	53	0	ENST00000372105.3:c.211A>G	p.Ile71Val	p.I71V	ENST00000372105	NM_015613.2	71	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7373.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTATGGCCG	NONE	.	.	Superfamily_domains:SSF52058,hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367	.	.	ENSP00000361177	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.11)	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Ile71Val,ENST00000372105,;	233	53	75	SUCCESS
GRID1	2894	.	GRCh37	10	87373360	87373360	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	56	112	0	ENST00000327946.7:c.2405A>G	p.Gln802Arg	p.Q802R	ENST00000327946	NM_017551.2	802	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS31236.1	2405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGCTTC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Pfam_domain:PF00060,Pfam_domain:PF00497,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000330148	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000327946	Transcript	.	.	ENSG00000182771	4575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.3)	.	GRID1_HUMAN	GRID1	HGNC	B7Z7L0_HUMAN	.	UPI00001D8051	SNV	GRID1,missense_variant,p.Gln373Arg,ENST00000536331,;GRID1,missense_variant,p.Gln802Arg,ENST00000327946,;GRID1,upstream_gene_variant,,ENST00000552278,;GRID1,synonymous_variant,p.%3D,ENST00000464741,;	2491	112	174	SUCCESS
NUTM2A	728118	.	GRCh37	10	88994174	88994174	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	116	0	ENST00000381707.2:c.2346T>G	p.Pro782=	p.P782=	ENST00000381707	NM_001099338.1	782	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS44452.1	2346	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCTGCCTC	NONE	.	.	hmmpanther:PTHR22879,Pfam_domain:PF12882	.	.	ENSP00000371126	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000381707	Transcript	1	.	ENSG00000184923	23438	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NTM2A_HUMAN	NUTM2A	HGNC	.	.	UPI00001B6532	SNV	NUTM2A,synonymous_variant,p.%3D,ENST00000381707,;NUTM2A,intron_variant,,ENST00000381689,;NUTM2A-AS1,intron_variant,,ENST00000451940,;NUTM2A-AS1,downstream_gene_variant,,ENST00000433920,;NUTM2A-AS1,downstream_gene_variant,,ENST00000447424,;NUTM2A-AS1,downstream_gene_variant,,ENST00000433530,;NUTM2A-AS1,downstream_gene_variant,,ENST00000456104,;	2729	116	114	SUCCESS
ST14	6768	.	GRCh37	11	130079716	130079716	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	53	0	ENST00000278742.5:c.2566del	p.Ter856ArgfsTer76	p.*856Rfs*76	ENST00000278742	NM_021978.3	856	Tag/ag	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS8487.1	2566	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGTATAGGGG	NONE	.	.	.	.	.	ENSP00000278742	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000278742	Transcript	.	.	ENSG00000149418	11344	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ST14_HUMAN	ST14	HGNC	Q8WVC1_HUMAN	.	UPI00000012E9	deletion	ST14,frameshift_variant,p.Ter856Arg,ENST00000278742,;	2984	53	96	SUCCESS
PCNXL3	0	.	GRCh37	11	65404386	65404386	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748832469	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	58	0	ENST00000355703.3:c.6042G>T	p.Trp2014Cys	p.W2014C	ENST00000355703	NM_032223.2	2014	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS44650.1	6042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGCCTGC	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	.	.	ENSP00000347931	.	35/35	.	.	.	.	.	.	.	.	rs748832469	35/35	PASS	ENST00000355703	Transcript	.	.	ENSG00000197136	18760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.18)	.	deleterious_low_confidence(0.01)	.	PCX3_HUMAN	PCNXL3	HGNC	.	.	UPI0000405B22	SNV	PCNXL3,missense_variant,p.Trp2014Cys,ENST00000355703,;SIPA1,upstream_gene_variant,,ENST00000533361,;SIPA1,upstream_gene_variant,,ENST00000527525,;SIPA1,upstream_gene_variant,,ENST00000394227,;SIPA1,upstream_gene_variant,,ENST00000394224,;SIPA1,upstream_gene_variant,,ENST00000526137,;SIPA1,upstream_gene_variant,,ENST00000534313,;MIR4690,downstream_gene_variant,,ENST00000578459,;PCNXL3,downstream_gene_variant,,ENST00000531280,;PCNXL3,non_coding_transcript_exon_variant,,ENST00000439247,;	6581	58	49	SUCCESS
SPTBN2	6712	.	GRCh37	11	66460194	66460194	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746585059	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	36	0	ENST00000309996.2:c.5003G>A	p.Arg1668His	p.R1668H	ENST00000309996	NM_006946.2	1668	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8150.1	5003	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGCGGATG	NONE	.	.	Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	26/38	.	.	.	.	.	.	.	.	rs746585059	26/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Arg1668His,ENST00000533211,;SPTBN2,missense_variant,p.Arg1668His,ENST00000309996,;SPTBN2,missense_variant,p.Arg1668His,ENST00000529997,;SPTBN2,upstream_gene_variant,,ENST00000532650,;SPTBN2,upstream_gene_variant,,ENST00000532902,;SPTBN2,downstream_gene_variant,,ENST00000530665,;	5335	36	32	SUCCESS
RFX4	5992	.	GRCh37	12	107103177	107103177	+	synonymous_variant	Silent	SNP	C	C	T	rs1565989576	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	122	0	ENST00000392842.1:c.903C>T	p.Leu301=	p.L301=	ENST00000392842	NM_213594.2	301	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55880.1	930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTCCCAGA	NONE	.	.	hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF15	.	.	ENSP00000350552	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000357881	Transcript	.	.	ENSG00000111783	9985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFX4_HUMAN	RFX4	HGNC	R4GMS3_HUMAN,F8VZC4_HUMAN	.	UPI00001FB460	SNV	RFX4,synonymous_variant,p.%3D,ENST00000392842,;RFX4,synonymous_variant,p.%3D,ENST00000229387,;RFX4,synonymous_variant,p.%3D,ENST00000357881,;RFX4,synonymous_variant,p.%3D,ENST00000539967,;RFX4,synonymous_variant,p.%3D,ENST00000551640,;RP11-144F15.1,intron_variant,,ENST00000551505,;RFX4,3_prime_UTR_variant,,ENST00000536722,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;RP11-144F15.1,intron_variant,,ENST00000549203,;RFX4,downstream_gene_variant,,ENST00000552917,;	1070	122	127	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19501413	19501413	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	47	147	0	ENST00000299275.6:c.2481A>G	p.Lys827=	p.K827=	ENST00000299275	NM_019012.5	827	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS58213.1	2979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAATCAGA	NONE	.	.	hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752	.	.	ENSP00000404296	.	25/32	.	.	.	.	.	.	.	.	.	25/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,synonymous_variant,p.%3D,ENST00000424268,;PLEKHA5,synonymous_variant,p.%3D,ENST00000317589,;PLEKHA5,synonymous_variant,p.%3D,ENST00000543806,;PLEKHA5,synonymous_variant,p.%3D,ENST00000429027,;PLEKHA5,synonymous_variant,p.%3D,ENST00000538714,;PLEKHA5,synonymous_variant,p.%3D,ENST00000539256,;PLEKHA5,synonymous_variant,p.%3D,ENST00000299275,;PLEKHA5,synonymous_variant,p.%3D,ENST00000536974,;PLEKHA5,synonymous_variant,p.%3D,ENST00000355397,;PLEKHA5,intron_variant,,ENST00000538972,;PLEKHA5,intron_variant,,ENST00000359180,;	3011	147	110	SUCCESS
CALCOCO1	57658	.	GRCh37	12	54118961	54118961	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	37	156	0	ENST00000550804.1:c.66G>T	p.Arg22=	p.R22=	ENST00000550804		22	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8864.1	66	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTCCGGGC	NONE	.	.	hmmpanther:PTHR31915,Pfam_domain:PF07888,hmmpanther:PTHR31915:SF5	.	.	ENSP00000449960	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000550804	Transcript	.	.	ENSG00000012822	29306	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CACO1_HUMAN	CALCOCO1	HGNC	F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN	.	UPI0000037D7A	SNV	CALCOCO1,synonymous_variant,p.%3D,ENST00000549784,;CALCOCO1,synonymous_variant,p.%3D,ENST00000550804,;CALCOCO1,synonymous_variant,p.%3D,ENST00000546619,;CALCOCO1,synonymous_variant,p.%3D,ENST00000552623,;CALCOCO1,synonymous_variant,p.%3D,ENST00000430117,;CALCOCO1,synonymous_variant,p.%3D,ENST00000262059,;CALCOCO1,synonymous_variant,p.%3D,ENST00000549173,;CALCOCO1,synonymous_variant,p.%3D,ENST00000549688,;CALCOCO1,synonymous_variant,p.%3D,ENST00000548263,;CALCOCO1,synonymous_variant,p.%3D,ENST00000548177,;CALCOCO1,synonymous_variant,p.%3D,ENST00000551900,;CALCOCO1,synonymous_variant,p.%3D,ENST00000549349,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547885,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547949,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000553154,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000548431,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547988,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000546774,;	127	156	207	SUCCESS
AGAP2	116986	.	GRCh37	12	58131025	58131025	+	synonymous_variant	Silent	SNP	G	G	T	rs755399225	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	46	100	0	ENST00000547588.1:c.1005C>A	p.Gly335=	p.G335=	ENST00000547588	NM_001122772.2	335	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44932.1	1005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGCCCCC	NONE	byFrequency	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218	.	.	ENSP00000449241	.	1/19	.	.	.	.	.	.	.	.	rs755399225	1/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,synonymous_variant,p.%3D,ENST00000328568,;AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2,intron_variant,,ENST00000257897,;TSPAN31,upstream_gene_variant,,ENST00000550528,;TSPAN31,upstream_gene_variant,,ENST00000553221,;TSPAN31,upstream_gene_variant,,ENST00000547311,;	1005	100	143	SUCCESS
AGAP2	116986	.	GRCh37	12	58131661	58131661	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	20	0	ENST00000547588.1:c.369C>A	p.Leu123=	p.L123=	ENST00000547588	NM_001122772.2	123	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44932.1	369	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGAGAGCGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000449241	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2,intron_variant,,ENST00000257897,;AGAP2,upstream_gene_variant,,ENST00000328568,;TSPAN31,upstream_gene_variant,,ENST00000550528,;TSPAN31,upstream_gene_variant,,ENST00000553221,;TSPAN31,upstream_gene_variant,,ENST00000547311,;	369	20	31	SUCCESS
ANKS1B	56899	.	GRCh37	12	99145188	99145188	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	37	142	0	ENST00000547776.2:c.3617A>G	p.Glu1206Gly	p.E1206G	ENST00000547776	NM_152788.4	1206	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS55872.1	3617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTCAAAG	NONE	.	.	hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3	.	.	ENSP00000449629	.	25/26	.	.	.	.	.	.	.	.	COSM1245085,COSM1245086	25/26	PASS	ENST00000547776	Transcript	.	.	ENSG00000185046	24600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.046)	.	tolerated(0.09)	1,1	ANS1B_HUMAN	ANKS1B	HGNC	R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN	.	UPI00003FE521	SNV	ANKS1B,missense_variant,p.Glu456Gly,ENST00000549493,;ANKS1B,missense_variant,p.Glu236Gly,ENST00000333732,;ANKS1B,missense_variant,p.Glu478Gly,ENST00000550778,;ANKS1B,missense_variant,p.Glu341Gly,ENST00000547446,;ANKS1B,missense_variant,p.Glu722Gly,ENST00000547010,;ANKS1B,missense_variant,p.Glu212Gly,ENST00000341752,;ANKS1B,missense_variant,p.Glu372Gly,ENST00000546568,;ANKS1B,missense_variant,p.Glu396Gly,ENST00000550693,;ANKS1B,missense_variant,p.Glu1206Gly,ENST00000329257,;ANKS1B,missense_variant,p.Glu396Gly,ENST00000332712,;ANKS1B,missense_variant,p.Glu432Gly,ENST00000546960,;ANKS1B,missense_variant,p.Glu304Gly,ENST00000549025,;ANKS1B,missense_variant,p.Glu372Gly,ENST00000549558,;ANKS1B,missense_variant,p.Glu1206Gly,ENST00000547776,;ANKS1B,missense_variant,p.Glu10Gly,ENST00000555119,;ANKS1B,3_prime_UTR_variant,,ENST00000547362,;	3617	142	166	SUCCESS
RB1	5925	.	GRCh37	13	48923160	48923160	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs587776789	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	91	1	ENST00000267163.4:c.607+1G>A		p.X203_splice	ENST00000267163	NM_000321.2	203		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31973.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGTAAGT	NONE	.	.	.	.	.	ENSP00000267163	.	.	.	.	.	.	.	.	.	.	CS951522,CS961677,CS961676,CD084205,COSM3936344,COSM3957234,COSM3957233,COSM3936343	.	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	6/26	PRIMARY	.	.	.	.	5	1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,splice_donor_variant,,ENST00000267163,;RB1,splice_donor_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	.	92	35	SUCCESS
OXGR1	27199	.	GRCh37	13	97639005	97639005	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	32	0	ENST00000298440.1:c.1009C>T	p.Pro337Ser	p.P337S	ENST00000298440	NM_080818.3	337	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS9482.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGGTTGT	NONE	.	.	.	.	.	ENSP00000298440	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298440	Transcript	.	.	ENSG00000165621	4531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	OXGR1_HUMAN	OXGR1	HGNC	F5H6U5_HUMAN,F5H3P1_HUMAN,B2R986_HUMAN	.	UPI000003BCD2	SNV	OXGR1,missense_variant,p.Pro337Ser,ENST00000543457,;OXGR1,missense_variant,p.Pro337Ser,ENST00000298440,;OXGR1,downstream_gene_variant,,ENST00000541038,;OXGR1,downstream_gene_variant,,ENST00000541518,;LINC00359,upstream_gene_variant,,ENST00000606237,;	1253	32	18	SUCCESS
AJUBA	84962	.	GRCh37	14	23450783	23450783	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	60	0	ENST00000262713.2:c.693T>G	p.Tyr231Ter	p.Y231*	ENST00000262713	NM_032876.4	231	taT/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS9581.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGATACGA	NONE	.	.	hmmpanther:PTHR24219,hmmpanther:PTHR24219:SF7	.	.	ENSP00000262713	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000262713	Transcript	.	.	ENSG00000129474	20250	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AJUBA_HUMAN	AJUBA	HGNC	G3V5F5_HUMAN,G3V481_HUMAN	.	UPI0000040AEC	SNV	AJUBA,stop_gained,p.Tyr231Ter,ENST00000361265,;AJUBA,stop_gained,p.Tyr5Ter,ENST00000553736,;AJUBA,stop_gained,p.Tyr231Ter,ENST00000262713,;RP11-298I3.5,intron_variant,,ENST00000555074,;AJUBA,upstream_gene_variant,,ENST00000553911,;AJUBA,upstream_gene_variant,,ENST00000556731,;AJUBA,upstream_gene_variant,,ENST00000397388,;AJUBA,upstream_gene_variant,,ENST00000553592,;RP11-298I3.4,upstream_gene_variant,,ENST00000555294,;RP11-298I3.4,upstream_gene_variant,,ENST00000556503,;RP11-298I3.4,upstream_gene_variant,,ENST00000557615,;	1069	60	52	SUCCESS
TMEM63C	57156	.	GRCh37	14	77685213	77685213	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	74	0	ENST00000298351.4:c.57G>T	p.Val19=	p.V19=	ENST00000298351	NM_020431.2	19	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45141.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTGGATGA	NONE	.	.	hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018	.	.	ENSP00000298351	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000298351	Transcript	.	.	ENSG00000165548	23787	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM63C_HUMAN	TMEM63C	HGNC	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN	.	UPI0000049C5C	SNV	TMEM63C,synonymous_variant,p.%3D,ENST00000557408,;TMEM63C,synonymous_variant,p.%3D,ENST00000298351,;TMEM63C,synonymous_variant,p.%3D,ENST00000555338,;TMEM63C,synonymous_variant,p.%3D,ENST00000554766,;TMEM63C,synonymous_variant,p.%3D,ENST00000554346,;TMEM63C,synonymous_variant,p.%3D,ENST00000556514,;RP11-463C8.4,3_prime_UTR_variant,,ENST00000557752,;	201	74	81	SUCCESS
CCNDBP1	23582	.	GRCh37	15	43477752	43477752	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	33	85	0	ENST00000300213.4:c.56A>C	p.Glu19Ala	p.E19A	ENST00000300213	NM_012142.4	19	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS10092.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGAGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15492:SF1,hmmpanther:PTHR15492	.	.	ENSP00000300213	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000300213	Transcript	.	.	ENSG00000166946	1587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.08)	.	CCDB1_HUMAN	CCNDBP1	HGNC	B4DHB5_HUMAN	.	UPI00000703E1	SNV	CCNDBP1,missense_variant,p.Glu19Ala,ENST00000300213,;CCNDBP1,5_prime_UTR_variant,,ENST00000356633,;TMEM62,downstream_gene_variant,,ENST00000564494,;TMEM62,downstream_gene_variant,,ENST00000260403,;RP11-473C18.3,upstream_gene_variant,,ENST00000565685,;EPB42,intron_variant,,ENST00000563128,;TMEM62,downstream_gene_variant,,ENST00000569369,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000563065,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000569745,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000568507,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000566515,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000565296,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000562553,;CCNDBP1,missense_variant,p.Glu19Ala,ENST00000567434,;CCNDBP1,non_coding_transcript_exon_variant,,ENST00000564630,;CCNDBP1,non_coding_transcript_exon_variant,,ENST00000566833,;CCNDBP1,upstream_gene_variant,,ENST00000568936,;CCNDBP1,upstream_gene_variant,,ENST00000567690,;TMEM62,downstream_gene_variant,,ENST00000563859,;TMEM62,downstream_gene_variant,,ENST00000566122,;CCNDBP1,upstream_gene_variant,,ENST00000444658,;CCNDBP1,upstream_gene_variant,,ENST00000566882,;	298	85	65	SUCCESS
RASGRF1	5923	.	GRCh37	15	79296322	79296322	+	synonymous_variant	Silent	SNP	G	G	A	rs147952942	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	37	67	0	ENST00000419573.3:c.2319C>T	p.Ala773=	p.A773=	ENST00000419573	NM_002891.4	773	gcC/gcT	0	A:0.0005	.	.	.	.	A	A	protein_coding	YES	CCDS10309.1	2319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGGCCAG	NONE	byCluster	.	hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113	.	A:0	ENSP00000405963	.	16/28	.	.	.	.	.	.	.	.	rs147952942	16/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,synonymous_variant,p.%3D,ENST00000558480,;RASGRF1,synonymous_variant,p.%3D,ENST00000419573,;RASGRF1,5_prime_UTR_variant,,ENST00000394745,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	2594	67	64	SUCCESS
TSC2	7249	.	GRCh37	16	2124225	2124225	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs45517233	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	24	0	ENST00000219476.3:c.2380C>T	p.Gln794Ter	p.Q794*	ENST00000219476	NM_000548.3	794	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10458.1	2380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	TGGAGCAGGGC	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF03542	.	.	ENSP00000219476	.	22/42	.	.	.	.	.	.	.	.	CM091029,rs45517233	22/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	SNV	TSC2,stop_gained,p.Gln757Ter,ENST00000439673,;TSC2,stop_gained,p.Gln794Ter,ENST00000219476,;TSC2,stop_gained,p.Gln805Ter,ENST00000568454,;TSC2,stop_gained,p.Gln794Ter,ENST00000401874,;TSC2,stop_gained,p.Gln794Ter,ENST00000353929,;TSC2,stop_gained,p.Gln794Ter,ENST00000350773,;TSC2,stop_gained,p.Gln745Ter,ENST00000382538,;TSC2,downstream_gene_variant,,ENST00000562474,;TSC2,upstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000563346,;TSC2,non_coding_transcript_exon_variant,,ENST00000463808,;TSC2,downstream_gene_variant,,ENST00000568566,;TSC2,upstream_gene_variant,,ENST00000483020,;TSC2,upstream_gene_variant,,ENST00000561695,;TSC2,downstream_gene_variant,,ENST00000488675,;TSC2,upstream_gene_variant,,ENST00000497886,;TSC2,upstream_gene_variant,,ENST00000471143,;	3010	24	29	SUCCESS
AXIN1	8312	.	GRCh37	16	364646	364647	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	52	0	ENST00000262320.3:c.915dup	p.Val306CysfsTer45	p.V306Cfs*45	ENST00000262320	NM_003502.3	305	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS10405.1	915-916	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGACATAAT	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	insertion	AXIN1,frameshift_variant,p.Val306CysfsTer45,ENST00000262320,;AXIN1,frameshift_variant,p.Val306CysfsTer45,ENST00000354866,;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	1287-1288	52	84	SUCCESS
HEATR3	55027	.	GRCh37	16	50120257	50120257	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	59	0	ENST00000299192.7:c.1505A>G	p.Gln502Arg	p.Q502R	ENST00000299192	NM_182922.2	502	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS10739.1	1505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCAACCAG	NONE	.	.	hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000299192	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000299192	Transcript	.	.	ENSG00000155393	26087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.1)	.	HEAT3_HUMAN	HEATR3	HGNC	.	.	UPI0000071B6C	SNV	HEATR3,missense_variant,p.Gln502Arg,ENST00000299192,;HEATR3,missense_variant,p.Gln416Arg,ENST00000285767,;HEATR3,non_coding_transcript_exon_variant,,ENST00000564942,;HEATR3,downstream_gene_variant,,ENST00000561525,;	1696	59	44	SUCCESS
RFWD3	55159	.	GRCh37	16	74660446	74660446	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	48	94	0	ENST00000361070.4:c.1976A>G	p.Asn659Ser	p.N659S	ENST00000361070	NM_018124.3	659	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS32486.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGATTTTTA	NONE	.	.	Gene3D:2.130.10.10,hmmpanther:PTHR16047:SF7,hmmpanther:PTHR16047	.	.	ENSP00000354361	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000361070	Transcript	.	.	ENSG00000168411	25539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.46)	.	RFWD3_HUMAN	RFWD3	HGNC	I3L4I5_HUMAN,I3L2T2_HUMAN,I3L299_HUMAN,I3L284_HUMAN	.	UPI0000366B66	SNV	RFWD3,missense_variant,p.Asn659Ser,ENST00000361070,;RFWD3,missense_variant,p.Asn659Ser,ENST00000571750,;RFWD3,downstream_gene_variant,,ENST00000575154,;	2074	94	83	SUCCESS
RNF112	7732	.	GRCh37	17	19316310	19316310	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	49	117	0	ENST00000461366.1:c.441C>A	p.Gly147=	p.G147=	ENST00000461366	NM_007148.4	147	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS58529.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCTCAT	NONE	.	.	hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000454919	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000461366	Transcript	.	.	ENSG00000128482	12968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN112_HUMAN	RNF112	HGNC	J3QRB8_HUMAN	.	UPI00001B0607	SNV	RNF112,synonymous_variant,p.%3D,ENST00000461366,;RNF112,downstream_gene_variant,,ENST00000575165,;CTB-187M2.2,non_coding_transcript_exon_variant,,ENST00000579897,;RNF112,intron_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574149,;RNF112,upstream_gene_variant,,ENST00000574782,;	656	117	142	SUCCESS
LRRC37A2	474170	.	GRCh37	17	44630766	44630766	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs762616867	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	406	155	503	0	ENST00000333412.3:c.4810A>T	p.Ile1604Leu	p.I1604L	ENST00000333412	NM_001006607.2	1604	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS42353.1	4810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGATATGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23045,Pfam_domain:PF14914	.	.	ENSP00000459551	.	12/15	.	.	.	.	.	.	.	.	rs762616867	12/15	PASS	ENST00000576629	Transcript	.	.	ENSG00000238083	32404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.558)	.	deleterious(0.04)	.	L37A2_HUMAN	LRRC37A2	HGNC	.	.	UPI0000E59258	SNV	LRRC37A2,missense_variant,p.Ile1604Leu,ENST00000576629,;LRRC37A2,missense_variant,p.Ile1604Leu,ENST00000333412,;ARL17A,intron_variant,,ENST00000337845,;ARL17A,intron_variant,,ENST00000573185,;ARL17A,intron_variant,,ENST00000445552,;ARL17A,intron_variant,,ENST00000329240,;ARL17A,intron_variant,,ENST00000570550,;ARL17A,downstream_gene_variant,,ENST00000336125,;LRRC37A2,splice_region_variant,,ENST00000572638,;	5305	503	561	SUCCESS
GP1BA	2811	.	GRCh37	17	4837682	4837682	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1476897044	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	60	0	ENST00000329125.5:c.1783C>G	p.Leu595Val	p.L595V	ENST00000329125	NM_000173.5	595	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS54068.1	1783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCTGCTC	NONE	.	.	.	.	.	ENSP00000329380	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329125	Transcript	.	.	ENSG00000185245	4439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	GP1BA_HUMAN	GP1BA	HGNC	A5CKE2_HUMAN,E7ES66_HUMAN,E5FY30_HUMAN,E0D854_HUMAN,E0D852_HUMAN	.	UPI0001CB792B	SNV	GP1BA,missense_variant,p.Leu595Val,ENST00000329125,;SLC25A11,downstream_gene_variant,,ENST00000576951,;SLC25A11,downstream_gene_variant,,ENST00000225665,;SLC25A11,downstream_gene_variant,,ENST00000544061,;SLC25A11,downstream_gene_variant,,ENST00000570543,;SLC25A11,downstream_gene_variant,,ENST00000574710,;	1858	60	47	SUCCESS
SDK2	54549	.	GRCh37	17	71503638	71503638	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	64	0	ENST00000392650.3:c.163C>A	p.Pro55Thr	p.P55T	ENST00000392650	NM_001144952.1	55	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45769.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGCCAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000376421	.	2/45	.	.	.	.	.	.	.	.	.	2/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Pro55Thr,ENST00000388726,;SDK2,missense_variant,p.Pro55Thr,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000585283,;	164	64	61	SUCCESS
SUMO2	6613	.	GRCh37	17	73177179	73177179	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	379	109	383	0	ENST00000420826.2:c.126A>G	p.Lys42=	p.K42=	ENST00000420826	NM_006937.3	42	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS45774.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGTTTACT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10562:SF10,hmmpanther:PTHR10562,Gene3D:3.10.20.90,Pfam_domain:PF11976,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000405965	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000420826	Transcript	.	.	ENSG00000188612	11125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUMO2_HUMAN	SUMO2	HGNC	J3KRH1_HUMAN	.	UPI0000004177	SNV	SUMO2,synonymous_variant,p.%3D,ENST00000420826,;SUMO2,synonymous_variant,p.%3D,ENST00000314523,;SUMO2,5_prime_UTR_variant,,ENST00000578238,;	275	383	489	SUCCESS
MGAT5B	146664	.	GRCh37	17	74878442	74878442	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	60	0	ENST00000569840.2:c.329+62C>T		p.*110*	ENST00000569840	NM_001199172.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45788.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCGGGGT	NONE	.	.	.	.	.	ENSP00000391227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428789	Transcript	.	.	ENSG00000167889	24140	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGT5B_HUMAN	MGAT5B	HGNC	.	.	UPI0000231C88	SNV	MGAT5B,3_prime_UTR_variant,,ENST00000565675,;MGAT5B,intron_variant,,ENST00000428789,;MGAT5B,intron_variant,,ENST00000569840,;MGAT5B,intron_variant,,ENST00000301618,;MGAT5B,intron_variant,,ENST00000374998,;MGAT5B,intron_variant,,ENST00000565043,;	.	60	54	SUCCESS
TP53	7157	.	GRCh37	17	7577153	7577153	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	rs879253905	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	77	0	ENST00000269305.4:c.785del	p.Gly262ValfsTer83	p.G262Vfs*83	ENST00000269305	NM_001126112.2	262	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS11118.1	785	INDELOCATOR*|VARSCANI*|PINDEL	.	AGATTACCACTA	CODON|p.0?|c.1_1182del1182|6,CODON|p.N263fs*82|c.787delA|3,CODON|p.G262delG|c.784_786delGGT|12,CODON|p.G262delG|c.784_786delGGT|10,CODON|p.G262delG|c.784_786delGGT|10,BUFFER|p.G266fs*79|c.797delG|3,BUFFER|p.G266E|c.797G>A|11,BUFFER|p.G266E|c.797G>A|7,BUFFER|p.G266V|c.797G>T|5,BUFFER|p.G266E|c.797G>A|17,BUFFER|p.G266E|c.797G>A|64,BUFFER|p.G266V|c.797G>T|18,BUFFER|p.G266V|c.797G>T|46,BUFFER|p.G266R|c.796G>A|5,BUFFER|p.G266*|c.796G>T|13,BUFFER|p.G266R|c.796G>A|7,BUFFER|p.G266R|c.796G>A|36,BUFFER|p.G266R|c.796G>C|15,BUFFER|p.G266R|c.796G>A|6,BUFFER|p.L265delL|c.792_794delACT|3,BUFFER|p.L265L|c.795G>A|3,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265P|c.794T>C|17,BUFFER|p.L265R|c.794T>G|4,BUFFER|p.L265P|c.794T>C|4,BUFFER|p.L265P|c.794T>C|3,BUFFER|p.L265fs*80|c.793delC|3,BUFFER|p.L265delL|c.790_792delCTA|4,BUFFER|p.L265M|c.793C>A|5,BUFFER|p.L264fs*81|c.790delC|3,BUFFER|p.L264I|c.790C>A|3,BUFFER|p.L264L|c.790C>T|5,BUFFER|p.G262fs*83|c.784delG|3,BUFFER|p.G262V|c.785G>T|9,BUFFER|p.G262D|c.785G>A|6,BUFFER|p.G262V|c.785G>T|18,BUFFER|p.G262V|c.785G>T|3,BUFFER|p.S261R|c.783T>G|3,BUFFER|p.?|c.783-1G>T|4,BUFFER|p.?|c.783-1G>T|19,BUFFER|p.?|c.783-1G>A|4,BUFFER|p.?|c.783-1G>T|8,BUFFER|p.?|c.783-1G>A|3,BUFFER|p.?|c.783-1G>T|5,BUFFER|p.?|c.783-1G>A|8,BUFFER|p.?|c.783-2A>T|3,BUFFER|p.?|c.783-2A>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13765G>A,TP53_g.13765G>T,TP53_g.13765del,COSM11198,COSM10828,COSM45527,COSM216411,COSM3787442,COSM1646802	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,0,1,1,1,1,1,1	.	.	.	.	.	0,0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	deletion	TP53,frameshift_variant,p.Gly262ValfsTer89,ENST00000420246,;TP53,frameshift_variant,p.Gly262ValfsTer83,ENST00000269305,;TP53,frameshift_variant,p.Gly130ValfsTer?,ENST00000509690,;TP53,frameshift_variant,p.Gly262ValfsTer90,ENST00000359597,;TP53,frameshift_variant,p.Gly262ValfsTer83,ENST00000445888,;TP53,frameshift_variant,p.Gly262ValfsTer81,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000504937,;TP53,splice_region_variant,,ENST00000504290,;TP53,splice_region_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	975	77	91	SUCCESS
TMC8	147138	.	GRCh37	17	76129505	76129505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	66	0	ENST00000318430.5:c.550C>A	p.Leu184Ile	p.L184I	ENST00000318430	NM_152468.4	184	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS32749.1	550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATCTCTTC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF34	.	.	ENSP00000325561	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000318430	Transcript	.	.	ENSG00000167895	20474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TMC8_HUMAN	TMC8	HGNC	B3KXZ8_HUMAN	.	UPI00000747D3	SNV	TMC8,missense_variant,p.Leu184Ile,ENST00000318430,;TMC8,5_prime_UTR_variant,,ENST00000589691,;TMC6,upstream_gene_variant,,ENST00000592063,;TMC6,upstream_gene_variant,,ENST00000592594,;TMC8,downstream_gene_variant,,ENST00000590426,;TMC6,upstream_gene_variant,,ENST00000322914,;TMC6,upstream_gene_variant,,ENST00000306591,;TMC6,upstream_gene_variant,,ENST00000590602,;TMC6,upstream_gene_variant,,ENST00000589553,;TMC6,upstream_gene_variant,,ENST00000589271,;TMC6,upstream_gene_variant,,ENST00000322933,;TMC8,downstream_gene_variant,,ENST00000590799,;TMC6,upstream_gene_variant,,ENST00000587480,;TMC8,upstream_gene_variant,,ENST00000591003,;TMC8,upstream_gene_variant,,ENST00000590184,;TMC8,upstream_gene_variant,,ENST00000591144,;TMC8,upstream_gene_variant,,ENST00000592399,;TMC6,upstream_gene_variant,,ENST00000586126,;TMC8,upstream_gene_variant,,ENST00000591983,;TMC6,upstream_gene_variant,,ENST00000593044,;TMC6,upstream_gene_variant,,ENST00000588087,;TMC6,upstream_gene_variant,,ENST00000586697,;TMC6,upstream_gene_variant,,ENST00000588792,;	924	66	62	SUCCESS
ANKRD29	147463	.	GRCh37	18	21197723	21197723	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	29	85	0	ENST00000592179.1:c.696A>T	p.Lys232Asn	p.K232N	ENST00000592179	NM_173505.2	232	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS11879.1	696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATTTAAG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24120:SF3,hmmpanther:PTHR24120,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000468354	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000592179	Transcript	.	.	ENSG00000154065	27110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.04)	.	ANR29_HUMAN	ANKRD29	HGNC	.	.	UPI00001618ED	SNV	ANKRD29,missense_variant,p.Lys232Asn,ENST00000284207,;ANKRD29,missense_variant,p.Lys232Asn,ENST00000592179,;ANKRD29,missense_variant,p.Lys232Asn,ENST00000322980,;ANKRD29,downstream_gene_variant,,ENST00000586511,;ANKRD29,missense_variant,p.Lys79Asn,ENST00000587763,;ANKRD29,non_coding_transcript_exon_variant,,ENST00000591617,;ANKRD29,non_coding_transcript_exon_variant,,ENST00000591280,;	851	85	127	SUCCESS
EPB41L3	23136	.	GRCh37	18	5434095	5434095	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1234278432	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	6	149	0	ENST00000341928.2:c.631G>C	p.Asp211His	p.D211H	ENST00000341928	NM_012307.3	211	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS11838.1	631	MUTECT|MUSE	.	GTCATCTCGCA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF00373,Gene3D:1.20.80.10,PIRSF_domain:PIRSF002304,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935	.	.	ENSP00000343158	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.89)	.	deleterious(0)	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Asp211His,ENST00000342933,;EPB41L3,missense_variant,p.Asp211His,ENST00000341928,;EPB41L3,missense_variant,p.Asp211His,ENST00000544123,;EPB41L3,missense_variant,p.Asp211His,ENST00000400111,;EPB41L3,missense_variant,p.Asp211His,ENST00000540638,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581757,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,upstream_gene_variant,,ENST00000578432,;	972	149	135	SUCCESS
DSEL	92126	.	GRCh37	18	65179555	65179555	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	37	89	0	ENST00000310045.7:c.2321T>C	p.Ile774Thr	p.I774T	ENST00000310045	NM_032160.2	774	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11995.1	2321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAATCCTA	NONE	.	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.67)	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Ile774Thr,ENST00000310045,;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	3795	89	108	SUCCESS
NCAN	1463	.	GRCh37	19	19336002	19336002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	23	0	ENST00000252575.6:c.995T>C	p.Val332Ala	p.V332A	ENST00000252575	NM_004386.2	332	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12397.1	995	MUTECT|MUSE|VARSCANS	.	GGGCGTGCGCA	NONE	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000252575	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000252575	Transcript	.	.	ENSG00000130287	2465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	NCAN_HUMAN	NCAN	HGNC	Q4LE67_HUMAN,F5H7X3_HUMAN	.	UPI000013CD70	SNV	NCAN,missense_variant,p.Val332Ala,ENST00000252575,;NCAN,upstream_gene_variant,,ENST00000538881,;NCAN,upstream_gene_variant,,ENST00000590187,;	1094	23	44	SUCCESS
THAP8	199745	.	GRCh37	19	36530605	36530605	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs201068048	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	36	83	0	ENST00000292894.1:c.292C>T	p.Arg98Ter	p.R98*	ENST00000292894	NM_152658.2	98	Cga/Tga	0	A:0	A:0	.	A:0.0014	.	A	R/*	protein_coding	YES	CCDS33000.1	292	RADIA|MUTECT|MUSE	.	GCTTCGGGTCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23080:SF13,hmmpanther:PTHR23080	A:0	A:0.0001	ENSP00000292894	A:0	3/4	.	.	.	.	.	.	.	.	rs201068048	3/4	PASS	ENST00000292894	Transcript	.	A:0.0004	ENSG00000161277	23191	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.001	.	.	THAP8_HUMAN	THAP8	HGNC	B4DMU1_HUMAN,B4DKM9_HUMAN	.	UPI000006ED6C	SNV	THAP8,stop_gained,p.Arg98Ter,ENST00000292894,;THAP8,5_prime_UTR_variant,,ENST00000538849,;AC002116.7,intron_variant,,ENST00000586962,;THAP8,downstream_gene_variant,,ENST00000524106,;THAP8,synonymous_variant,p.%3D,ENST00000522483,;THAP8,3_prime_UTR_variant,,ENST00000607730,;	837	83	113	SUCCESS
SYMPK	8189	.	GRCh37	19	46332347	46332347	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1180489120	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	61	139	1	ENST00000245934.7:c.1866G>T	p.Trp622Cys	p.W622C	ENST00000245934	NM_004819.2	622	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS12676.2	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGCCAGGC	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	.	.	ENSP00000245934	.	14/27	.	.	.	.	.	.	.	.	COSM712295	14/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.289)	.	deleterious(0.02)	1	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,missense_variant,p.Trp622Cys,ENST00000245934,;AC092301.3,upstream_gene_variant,,ENST00000601618,;SYMPK,upstream_gene_variant,,ENST00000598155,;SYMPK,missense_variant,p.Trp622Cys,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599460,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599814,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000598896,;	2111	140	199	SUCCESS
SYMPK	8189	.	GRCh37	19	46332348	46332348	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	61	140	1	ENST00000245934.7:c.1865G>T	p.Trp622Leu	p.W622L	ENST00000245934	NM_004819.2	622	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS12676.2	1865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCAGGCG	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	.	.	ENSP00000245934	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.11)	.	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,missense_variant,p.Trp622Leu,ENST00000245934,;AC092301.3,upstream_gene_variant,,ENST00000601618,;SYMPK,upstream_gene_variant,,ENST00000598155,;SYMPK,missense_variant,p.Trp622Leu,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599460,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599814,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000598896,;	2110	141	199	SUCCESS
PRR12	57479	.	GRCh37	19	50119403	50119403	+	synonymous_variant	Silent	SNP	C	C	T	rs563050549	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	76	193	0	ENST00000418929.2:c.5424C>T	p.Asn1808=	p.N1808=	ENST00000418929	NM_020719.1	1808	aaC/aaT	0	.	T:0	.	T:0	.	T	N	protein_coding	YES	CCDS46143.1	5424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACGCTAC	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709	T:0.001	.	ENSP00000394510	T:0	9/14	.	.	.	.	.	.	.	.	rs563050549	9/14	PASS	ENST00000418929	Transcript	.	T:0.0002	ENSG00000126464	29217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,synonymous_variant,p.%3D,ENST00000418929,;PRR12,upstream_gene_variant,,ENST00000593853,;	5436	194	284	SUCCESS
SIGLECL1	284369	.	GRCh37	19	51769106	51769106	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149546733	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	91	0	ENST00000316401.7:c.380C>T	p.Ala127Val	p.A127V	ENST00000316401	NM_173635.1	127	gCg/gTg	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS12827.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGCGCTGC	NONE	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12035	.	T:0.0002	ENSP00000321249	.	4/6	.	.	.	.	.	.	.	.	rs149546733,COSM259030	4/6	PASS	ENST00000316401	Transcript	.	.	ENSG00000179213	26856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	deleterious(0.04)	0,1	SIGL1_HUMAN	SIGLECL1	HGNC	M0QY54_HUMAN,M0QY48_HUMAN	.	UPI000006D35D	SNV	SIGLECL1,missense_variant,p.Ala127Val,ENST00000316401,;SIGLECL1,missense_variant,p.Ala127Val,ENST00000597610,;SIGLECL1,missense_variant,p.Ala33Val,ENST00000597824,;SIGLECL1,downstream_gene_variant,,ENST00000596117,;SIGLECL1,downstream_gene_variant,,ENST00000601727,;CTD-3187F8.2,intron_variant,,ENST00000597569,;SIGLECL1,non_coding_transcript_exon_variant,,ENST00000593968,;SIGLECL1,downstream_gene_variant,,ENST00000599553,;	761	91	79	SUCCESS
AGL	178	.	GRCh37	1	100381999	100382000	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	409	126	345	0	ENST00000294724.4:c.4293_4294del	p.Leu1432ArgfsTer3	p.L1432Rfs*3	ENST00000294724	NM_000028.2	1431	gcATta/gcta	0	.	.	.	.	.	-	AL/AX	protein_coding	YES	CCDS759.1	4293-4294	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATGCATTAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10569,Pfam_domain:PF06202,TIGRFAM_domain:TIGR01531,Superfamily_domains:SSF48208	.	.	ENSP00000294724	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	deletion	AGL,frameshift_variant,p.Leu1432ArgfsTer3,ENST00000370163,;AGL,frameshift_variant,p.Leu1416ArgfsTer3,ENST00000361302,;AGL,frameshift_variant,p.Leu1432ArgfsTer3,ENST00000294724,;AGL,frameshift_variant,p.Leu1432ArgfsTer3,ENST00000370165,;AGL,frameshift_variant,p.Leu1415ArgfsTer3,ENST00000361522,;AGL,frameshift_variant,p.Leu1416ArgfsTer3,ENST00000370161,;AGL,frameshift_variant,p.Leu1432ArgfsTer3,ENST00000361915,;	4771-4772	345	535	SUCCESS
AKNAD1	254268	.	GRCh37	1	109394989	109394989	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	75	0	ENST00000370001.3:c.298A>C	p.Asn100His	p.N100H	ENST00000370001	NM_152763.4	100	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS791.2	298	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTTGCTG	NONE	.	.	hmmpanther:PTHR21510:SF14,hmmpanther:PTHR21510	.	.	ENSP00000359018	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000370001	Transcript	.	.	ENSG00000162641	28398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.778)	.	deleterious(0)	.	AKND1_HUMAN	AKNAD1	HGNC	.	.	UPI00004700A0	SNV	AKNAD1,missense_variant,p.Asn100His,ENST00000369994,;AKNAD1,missense_variant,p.Asn100His,ENST00000370001,;AKNAD1,missense_variant,p.Asn100His,ENST00000369995,;AKNAD1,intron_variant,,ENST00000357393,;SPATA42,upstream_gene_variant,,ENST00000369989,;SPATA42,upstream_gene_variant,,ENST00000417241,;AKNAD1,missense_variant,p.Asn100His,ENST00000472781,;AKNAD1,missense_variant,p.Asn100His,ENST00000461774,;AKNAD1,missense_variant,p.Asn100His,ENST00000474186,;	567	75	94	SUCCESS
ZNF687	57592	.	GRCh37	1	151259083	151259083	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746046631	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	17	62	0	ENST00000324048.5:c.316G>T	p.Gly106Trp	p.G106W	ENST00000324048		106	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS992.1	316	RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402	.	.	ENSP00000319829	.	3/10	.	.	.	.	.	.	.	.	rs746046631,COSM1333958	3/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.735)	.	deleterious(0)	0,1	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	SNV	ZNF687,missense_variant,p.Gly115Trp,ENST00000443959,;ZNF687,missense_variant,p.Gly106Trp,ENST00000324048,;ZNF687,missense_variant,p.Gly106Trp,ENST00000368879,;ZNF687,missense_variant,p.Gly106Trp,ENST00000336715,;RP11-126K1.2,upstream_gene_variant,,ENST00000447795,;ZNF687,upstream_gene_variant,,ENST00000436614,;ZNF687,upstream_gene_variant,,ENST00000426871,;RP11-126K1.2,upstream_gene_variant,,ENST00000494138,;ZNF687,missense_variant,p.Gly106Trp,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	1286	62	140	SUCCESS
FLG2	388698	.	GRCh37	1	152324696	152324696	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	35	100	0	ENST00000388718.5:c.5566G>T	p.Gly1856Ter	p.G1856*	ENST00000388718	NM_001014342.2	1856	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS30861.1	5566	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCACTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,stop_gained,p.Gly1856Ter,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	5639	100	219	SUCCESS
CREB3L4	148327	.	GRCh37	1	153941033	153941033	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs781747487	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	74	90	0	ENST00000271889.4:c.32C>G	p.Ala11Gly	p.A11G	ENST00000271889		11	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS1056.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGCGTGGC	NONE	.	.	.	.	.	ENSP00000357596	.	2/10	.	.	.	.	.	.	.	.	rs781747487	2/10	PASS	ENST00000368607	Transcript	.	.	ENSG00000143578	18854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious_low_confidence(0.03)	.	CR3L4_HUMAN	CREB3L4	HGNC	B4DMZ9_HUMAN	.	UPI0000073CF0	SNV	CREB3L4,missense_variant,p.Ala11Gly,ENST00000368601,;CREB3L4,missense_variant,p.Ala11Gly,ENST00000368603,;CREB3L4,missense_variant,p.Ala11Gly,ENST00000368600,;CREB3L4,missense_variant,p.Ala11Gly,ENST00000431292,;CREB3L4,missense_variant,p.Ala11Gly,ENST00000449724,;CREB3L4,missense_variant,p.Ala11Gly,ENST00000271889,;CREB3L4,missense_variant,p.Ala11Gly,ENST00000368607,;CREB3L4,5_prime_UTR_variant,,ENST00000405694,;SLC39A1,upstream_gene_variant,,ENST00000413622,;SLC39A1,upstream_gene_variant,,ENST00000310483,;SLC39A1,upstream_gene_variant,,ENST00000356205,;RP11-422P24.10,downstream_gene_variant,,ENST00000608147,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000492729,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000473340,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000461688,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000477617,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000479010,;CREB3L4,upstream_gene_variant,,ENST00000468845,;	298	90	173	SUCCESS
NES	10763	.	GRCh37	1	156639400	156639400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	36	86	0	ENST00000368223.3:c.4580G>A	p.Gly1527Asp	p.G1527D	ENST00000368223	NM_006617.1	1527	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1151.1	4580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCTGCA	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0.02)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Gly1527Asp,ENST00000368223,;	4713	86	166	SUCCESS
PEAR1	375033	.	GRCh37	1	156875181	156875181	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	23	0	ENST00000292357.7:c.272G>C	p.Cys91Ser	p.C91S	ENST00000292357	NM_001080471.1	91	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS30892.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGCCATG	NONE	.	.	hmmpanther:PTHR24052:SF9,hmmpanther:PTHR24052,PROSITE_profiles:PS51041	.	.	ENSP00000344465	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000338302	Transcript	.	.	ENSG00000187800	33631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	PEAR1_HUMAN	PEAR1	HGNC	A6PVP2_HUMAN	.	UPI000045889A	SNV	PEAR1,missense_variant,p.Cys91Ser,ENST00000338302,;PEAR1,missense_variant,p.Cys91Ser,ENST00000292357,;PEAR1,missense_variant,p.Cys91Ser,ENST00000455314,;PEAR1,3_prime_UTR_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;PEAR1,upstream_gene_variant,,ENST00000469390,;	497	23	71	SUCCESS
FCRL3	115352	.	GRCh37	1	157666784	157666784	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	11	0	ENST00000368184.3:c.844+146T>C		p.*282*	ENST00000368184	NM_052939.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1167.1	.	RADIA|MUTECT|MUSE	.	GTTAGACCAAC	NONE	.	.	.	.	.	ENSP00000357167	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	MODIFIER	6/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,intron_variant,,ENST00000368186,;FCRL3,intron_variant,,ENST00000368184,;FCRL3,downstream_gene_variant,,ENST00000496769,;RP11-367J7.3,downstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,intron_variant,,ENST00000494724,;FCRL3,intron_variant,,ENST00000480682,;FCRL3,downstream_gene_variant,,ENST00000478179,;FCRL3,intron_variant,,ENST00000485028,;FCRL3,intron_variant,,ENST00000477837,;FCRL3,intron_variant,,ENST00000492769,;	.	11	10	SUCCESS
OR6P1	128366	.	GRCh37	1	158532696	158532696	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	45	111	0	ENST00000334632.1:c.699A>T	p.Gly233=	p.G233=	ENST00000334632	NM_001160325.1	233	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS53391.1	699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGTCCCCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,synonymous_variant,p.%3D,ENST00000334632,;	699	111	209	SUCCESS
TSTD1	100131187	.	GRCh37	1	161008344	161008344	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	71	81	0	ENST00000423014.2:c.130C>T	p.Pro44Ser	p.P44S	ENST00000423014	NM_001113207.1	44	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS53400.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGGGATGT	NONE	.	.	PROSITE_profiles:PS50206,hmmpanther:PTHR13253:SF65,hmmpanther:PTHR13253,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821	.	.	ENSP00000388293	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000423014	Transcript	.	.	ENSG00000215845	35410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	TSTD1_HUMAN	TSTD1	HGNC	R4GNF9_HUMAN	.	UPI000007148A	SNV	TSTD1,missense_variant,p.Pro51Ser,ENST00000368023,;TSTD1,missense_variant,p.Pro44Ser,ENST00000318289,;TSTD1,missense_variant,p.Pro44Ser,ENST00000423014,;TSTD1,5_prime_UTR_variant,,ENST00000466967,;TSTD1,intron_variant,,ENST00000368024,;USF1,downstream_gene_variant,,ENST00000435396,;USF1,downstream_gene_variant,,ENST00000534633,;USF1,downstream_gene_variant,,ENST00000531842,;USF1,downstream_gene_variant,,ENST00000368019,;USF1,downstream_gene_variant,,ENST00000528768,;USF1,downstream_gene_variant,,ENST00000368021,;USF1,downstream_gene_variant,,ENST00000368020,;TSTD1,non_coding_transcript_exon_variant,,ENST00000486084,;RP11-544M22.13,intron_variant,,ENST00000289779,;RP11-544M22.13,intron_variant,,ENST00000470694,;USF1,downstream_gene_variant,,ENST00000496363,;TSTD1,upstream_gene_variant,,ENST00000462952,;USF1,downstream_gene_variant,,ENST00000473969,;USF1,downstream_gene_variant,,ENST00000491629,;USF1,downstream_gene_variant,,ENST00000472217,;USF1,downstream_gene_variant,,ENST00000529476,;RP11-544M22.3,downstream_gene_variant,,ENST00000433122,;	231	81	169	SUCCESS
CD247	919	.	GRCh37	1	167487756	167487756	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	24	0	ENST00000362089.5:c.-54G>A		p.*18*	ENST00000362089				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1261.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCGGGA	NONE	.	.	.	.	.	ENSP00000354782	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000362089	Transcript	.	.	ENSG00000198821	1677	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD3Z_HUMAN	CD247	HGNC	H6QVQ5_HUMAN,A9Y844_HUMAN	.	UPI0000127362	SNV	CD247,5_prime_UTR_variant,,ENST00000362089,;CD247,5_prime_UTR_variant,,ENST00000392122,;CD247,non_coding_transcript_exon_variant,,ENST00000479979,;CD247,non_coding_transcript_exon_variant,,ENST00000483825,;AKR1D1P1,upstream_gene_variant,,ENST00000457236,;	20	24	42	SUCCESS
MPC2	25874	.	GRCh37	1	167905052	167905052	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	38	128	0	ENST00000271373.4:c.28C>T	p.Arg10Trp	p.R10W	ENST00000271373	NM_001143674.2	10	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1266.1	28	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCAGGC	NONE	.	.	hmmpanther:PTHR14154:SF2,hmmpanther:PTHR14154	.	.	ENSP00000356820	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000367846	Transcript	.	.	ENSG00000143158	24515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.556)	.	deleterious(0.01)	.	MPC2_HUMAN	MPC2	HGNC	Q5R3B4_HUMAN	.	UPI0000044E0B	SNV	MPC2,missense_variant,p.Arg10Trp,ENST00000271373,;MPC2,missense_variant,p.Arg10Trp,ENST00000367846,;MPC2,missense_variant,p.Arg10Trp,ENST00000458574,;DCAF6,upstream_gene_variant,,ENST00000367840,;DCAF6,upstream_gene_variant,,ENST00000312263,;DCAF6,upstream_gene_variant,,ENST00000432587,;DCAF6,upstream_gene_variant,,ENST00000367843,;DCAF6,non_coding_transcript_exon_variant,,ENST00000450548,;DCAF6,upstream_gene_variant,,ENST00000470919,;DCAF6,upstream_gene_variant,,ENST00000455334,;DCAF6,upstream_gene_variant,,ENST00000470721,;	227	128	220	SUCCESS
SLC19A2	10560	.	GRCh37	1	169454948	169454948	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	52	92	0	ENST00000236137.5:c.57C>A	p.Leu19=	p.L19=	ENST00000236137	NM_006996.2	19	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1280.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGAGCAC	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF500794,PIRSF_domain:PIRSF028739,hmmpanther:PTHR10686:SF13,hmmpanther:PTHR10686	.	.	ENSP00000236137	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000236137	Transcript	.	.	ENSG00000117479	10938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S19A2_HUMAN	SLC19A2	HGNC	.	.	UPI0000036177	SNV	SLC19A2,synonymous_variant,p.%3D,ENST00000367804,;SLC19A2,synonymous_variant,p.%3D,ENST00000236137,;AL021068.1,upstream_gene_variant,,ENST00000392097,;	294	92	144	SUCCESS
SCYL3	57147	.	GRCh37	1	169833605	169833605	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	280	187	272	0	ENST00000367770.1:c.860C>T	p.Ala287Val	p.A287V	ENST00000367770		287	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS1287.1	860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAAGCTATC	NONE	.	.	hmmpanther:PTHR12984:SF13,hmmpanther:PTHR12984,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000356746	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000367772	Transcript	.	.	ENSG00000000457	19285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.723)	.	deleterious(0.04)	.	PACE1_HUMAN	SCYL3	HGNC	.	.	UPI00001AE580	SNV	SCYL3,missense_variant,p.Ala287Val,ENST00000367771,;SCYL3,missense_variant,p.Ala287Val,ENST00000367770,;SCYL3,missense_variant,p.Ala287Val,ENST00000423670,;SCYL3,missense_variant,p.Ala287Val,ENST00000367772,;RN7SL333P,downstream_gene_variant,,ENST00000476398,;SCYL3,non_coding_transcript_exon_variant,,ENST00000470238,;	1058	273	467	SUCCESS
TDRD5	163589	.	GRCh37	1	179631239	179631239	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs1295276272	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	20	77	0	ENST00000294848.8:c.2161G>A	p.Asp721Asn	p.D721N	ENST00000294848	NM_173533.3	721	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55663.1	2323	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGATGAG	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	tolerated(0.13)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Asp721Asn,ENST00000367614,;TDRD5,missense_variant,p.Asp231Asn,ENST00000417329,;TDRD5,missense_variant,p.Asp775Asn,ENST00000444136,;TDRD5,missense_variant,p.Asp721Asn,ENST00000294848,;	2573	77	126	SUCCESS
HMCN1	83872	.	GRCh37	1	186088414	186088414	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	291	57	198	0	ENST00000271588.4:c.11940G>A	p.Val3980=	p.V3980=	ENST00000271588	NM_031935.2	3980	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30956.1	11940	RADIA|MUTECT|MUSE|VARSCANS	.	CACGTGACCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	78/107	.	.	.	.	.	.	.	.	.	78/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	12169	198	349	SUCCESS
TTC13	79573	.	GRCh37	1	231047225	231047225	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752321035	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	828	91	481	0	ENST00000366661.4:c.2300G>C	p.Arg767Pro	p.R767P	ENST00000366661	NM_024525.4	767	cGa/cCa	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS1588.1	2300	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCGAGAG	NONE	byFrequency	.	hmmpanther:PTHR23083:SF363,hmmpanther:PTHR23083	.	.	ENSP00000355621	.	20/23	.	.	.	.	.	.	.	.	rs752321035	20/23	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	SNV	TTC13,missense_variant,p.Arg767Pro,ENST00000366661,;TTC13,missense_variant,p.Arg713Pro,ENST00000366662,;TTC13,missense_variant,p.Arg714Pro,ENST00000414259,;TTC13,non_coding_transcript_exon_variant,,ENST00000471302,;	2308	481	920	SUCCESS
IPP	3652	.	GRCh37	1	46211836	46211836	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767412927	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	51	118	0	ENST00000396478.3:c.248T>C	p.Ile83Thr	p.I83T	ENST00000396478	NM_005897.2	83	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS30702.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAATTCCT	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF35,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000379739	.	2/9	.	.	.	.	.	.	.	.	rs767412927	2/9	PASS	ENST00000396478	Transcript	.	.	ENSG00000197429	6108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	deleterious(0)	.	IPP_HUMAN	IPP	HGNC	.	.	UPI000012D80B	SNV	IPP,missense_variant,p.Ile83Thr,ENST00000396478,;IPP,missense_variant,p.Ile83Thr,ENST00000359942,;	351	118	135	SUCCESS
GLIS1	148979	.	GRCh37	1	54060500	54060500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	90	0	ENST00000312233.2:c.76C>A	p.Leu26Ile	p.L26I	ENST00000312233	NM_147193.2	26	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS582.1	76	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGGTCCA	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75	.	.	ENSP00000309653	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000312233	Transcript	.	.	ENSG00000174332	29525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	.	deleterious_low_confidence(0)	.	GLIS1_HUMAN	GLIS1	HGNC	.	.	UPI000013F293	SNV	GLIS1,missense_variant,p.Leu26Ile,ENST00000312233,;	643	90	110	SUCCESS
SIRPD	128646	.	GRCh37	20	1538224	1538224	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs1600076856	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	49	105	0	ENST00000381623.3:c.73+3G>A		p.X25_splice	ENST00000381623		25		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCACCTG	NONE	.	.	.	.	.	ENSP00000454437	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000567028	Transcript	.	.	ENSG00000260861	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP4-576H24.4	Clone_based_vega_gene	H3BML4_HUMAN	.	UPI0002466C6D	SNV	RP4-576H24.4,splice_region_variant,,ENST00000566961,;SIRPD,splice_region_variant,,ENST00000381621,;SIRPD,splice_region_variant,,ENST00000381623,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.2,non_coding_transcript_exon_variant,,ENST00000453770,;	.	105	130	SUCCESS
SETD4	54093	.	GRCh37	21	37429758	37429758	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	59	206	0	ENST00000332131.4:c.74-256G>A		p.*25*	ENST00000332131	NM_017438.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13640.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCCAACACAGA	NONE	.	.	.	.	.	ENSP00000382163	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399215	Transcript	.	.	ENSG00000185917	1258	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SETD4_HUMAN	SETD4	HGNC	C9JWV5_HUMAN,C9JIU9_HUMAN,C9J256_HUMAN	.	UPI000012868E	SNV	SETD4,5_prime_UTR_variant,,ENST00000442559,;SETD4,5_prime_UTR_variant,,ENST00000399205,;SETD4,5_prime_UTR_variant,,ENST00000446166,;SETD4,5_prime_UTR_variant,,ENST00000399212,;SETD4,5_prime_UTR_variant,,ENST00000399201,;SETD4,intron_variant,,ENST00000424303,;SETD4,intron_variant,,ENST00000399208,;SETD4,intron_variant,,ENST00000399207,;SETD4,intron_variant,,ENST00000443703,;SETD4,intron_variant,,ENST00000399215,;SETD4,intron_variant,,ENST00000332131,;SETD4,intron_variant,,ENST00000429161,;AP000688.11,upstream_gene_variant,,ENST00000436303,;SETD4,intron_variant,,ENST00000481477,;SETD4,upstream_gene_variant,,ENST00000460704,;SETD4,upstream_gene_variant,,ENST00000485865,;	.	206	225	SUCCESS
CECR6	0	.	GRCh37	22	17600295	17600295	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	43	89	0	ENST00000331437.3:c.1723G>C	p.Ala575Pro	p.A575P	ENST00000331437	NM_031890.3	575	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS13740.1	1723	RADIA|MUTECT|MUSE	.	AGAGGCCACAG	NONE	.	.	hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF1	.	.	ENSP00000329318	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331437	Transcript	.	.	ENSG00000183307	1844	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.737)	.	deleterious_low_confidence(0.01)	.	CECR6_HUMAN	CECR6	HGNC	.	.	UPI0000127513	SNV	CECR6,missense_variant,p.Ala575Pro,ENST00000331437,;CECR6,missense_variant,p.Ala220Pro,ENST00000399875,;AC006946.15,upstream_gene_variant,,ENST00000441544,;IL17RA,downstream_gene_variant,,ENST00000319363,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	1849	89	123	SUCCESS
PRR5	55615	.	GRCh37	22	45132983	45132983	+	synonymous_variant	Silent	SNP	C	C	T	rs771538941	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	43	102	0	ENST00000336985.6:c.1023C>T	p.Pro341=	p.P341=	ENST00000336985	NM_181333.3	341	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS56232.1	1092	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCGCTC	NONE	.	.	hmmpanther:PTHR32428,hmmpanther:PTHR32428:SF4	.	.	ENSP00000384848	.	10/10	.	.	.	.	.	.	.	.	rs771538941	10/10	PASS	ENST00000403581	Transcript	.	.	ENSG00000186654	31682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR5_HUMAN	PRR5	HGNC	B1AHG4_HUMAN,B1AHG3_HUMAN	.	UPI00002327F8	SNV	PRR5,synonymous_variant,p.%3D,ENST00000403581,;PRR5,synonymous_variant,p.%3D,ENST00000336985,;PRR5,synonymous_variant,p.%3D,ENST00000455389,;PRR5,synonymous_variant,p.%3D,ENST00000006251,;PRR5-ARHGAP8,intron_variant,,ENST00000352766,;PRR5-ARHGAP8,intron_variant,,ENST00000515632,;ARHGAP8,intron_variant,,ENST00000517296,;ARHGAP8,intron_variant,,ENST00000389773,;PRR5-ARHGAP8,intron_variant,,ENST00000361473,;PRR5,downstream_gene_variant,,ENST00000457960,;PRR5,downstream_gene_variant,,ENST00000432186,;PRR5,downstream_gene_variant,,ENST00000403696,;PRR5,non_coding_transcript_exon_variant,,ENST00000477331,;PRR5,downstream_gene_variant,,ENST00000492475,;PRR5,3_prime_UTR_variant,,ENST00000431834,;PRR5,3_prime_UTR_variant,,ENST00000432916,;PRR5,non_coding_transcript_exon_variant,,ENST00000475850,;PRR5,non_coding_transcript_exon_variant,,ENST00000495017,;PRR5-ARHGAP8,intron_variant,,ENST00000495250,;	1701	102	123	SUCCESS
TBC1D22A	25771	.	GRCh37	22	47193446	47193446	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761726540	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	53	209	0	ENST00000337137.4:c.566C>T	p.Ala189Val	p.A189V	ENST00000337137	NM_014346.2	189	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14078.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCGCTGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255	.	.	ENSP00000336724	.	4/13	.	.	.	.	.	.	.	.	rs761726540,COSM4104917,COSM4104918	4/13	PASS	ENST00000337137	Transcript	.	.	ENSG00000054611	1309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.012)	.	tolerated(0.27)	0,1,1	TB22A_HUMAN	TBC1D22A	HGNC	B9A6M3_HUMAN,B0QYI3_HUMAN	.	UPI0000128722	SNV	TBC1D22A,missense_variant,p.Ala189Val,ENST00000337137,;TBC1D22A,missense_variant,p.Ala142Val,ENST00000406733,;TBC1D22A,missense_variant,p.Ala142Val,ENST00000380995,;TBC1D22A,intron_variant,,ENST00000355704,;TBC1D22A,intron_variant,,ENST00000407381,;TBC1D22A,downstream_gene_variant,,ENST00000472791,;TBC1D22A,downstream_gene_variant,,ENST00000496139,;TBC1D22A,downstream_gene_variant,,ENST00000486163,;TBC1D22A,missense_variant,p.Ala142Val,ENST00000441162,;TBC1D22A,missense_variant,p.Ala189Val,ENST00000394449,;TBC1D22A,downstream_gene_variant,,ENST00000441936,;	732	209	204	SUCCESS
SNTG2	54221	.	GRCh37	2	1241734	1241734	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	46	0	ENST00000308624.5:c.794G>T	p.Gly265Val	p.G265V	ENST00000308624	NM_018968.3	265	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46220.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGGCACCG	NONE	.	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	.	ENSP00000311837	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.49)	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Gly265Val,ENST00000308624,;SNTG2,missense_variant,p.Gly138Val,ENST00000407292,;SNTG2,intron_variant,,ENST00000494178,;	923	46	33	SUCCESS
TTN	7273	.	GRCh37	2	179528600	179528600	+	intron_variant	Intron	SNP	C	C	T	rs913650930	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	134	0	ENST00000591111.1:c.34265-5079G>A		p.*11422*	ENST00000591111		12132		0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS59435.1	36394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCGCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	170/363	.	.	.	.	.	.	.	.	.	170/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu196Lys,ENST00000425332,;TTN,missense_variant,p.Glu12132Lys,ENST00000589042,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	36619	134	92	SUCCESS
FSIP2	401024	.	GRCh37	2	186670171	186670171	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs778128991	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	100	320	0	ENST00000424728.1:c.16138A>G	p.Met5380Val	p.M5380V	ENST00000424728		5380	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS54426.1	16405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGATGATT	NONE	byFrequency	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	rs778128991	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Met5469Val,ENST00000343098,;FSIP2,missense_variant,p.Met5380Val,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	16405	320	230	SUCCESS
PLCL1	5334	.	GRCh37	2	198950089	198950089	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	116	0	ENST00000428675.1:c.1848T>C	p.Ser616=	p.S616=	ENST00000428675	NM_006226.3	616	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS2326.2	1848	MUTECT|MUSE	.	TTTAGTGAAAC	NONE	.	.	PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,Superfamily_domains:SSF51695	.	.	ENSP00000402861	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,synonymous_variant,p.%3D,ENST00000487695,;PLCL1,synonymous_variant,p.%3D,ENST00000428675,;PLCL1,synonymous_variant,p.%3D,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	2246	116	66	SUCCESS
BIRC6	57448	.	GRCh37	2	32703821	32703821	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	107	0	ENST00000421745.2:c.7187A>G	p.Asp2396Gly	p.D2396G	ENST00000421745	NM_016252.3	2396	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS33175.2	7187	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGATATAT	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	36/74	.	.	.	.	.	.	.	.	.	36/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.76)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Asp2396Gly,ENST00000421745,;BIRC6,downstream_gene_variant,,ENST00000462504,;	7321	107	90	SUCCESS
CEP97	79598	.	GRCh37	3	101450745	101450745	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	104	0	ENST00000341893.3:c.509G>A	p.Arg170Lys	p.R170K	ENST00000341893		170	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS2944.1	509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGAAGTC	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058	.	.	ENSP00000342510	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000341893	Transcript	.	.	ENSG00000182504	26244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.36)	.	CEP97_HUMAN	CEP97	HGNC	.	.	UPI0000074569	SNV	CEP97,missense_variant,p.Arg170Lys,ENST00000494050,;CEP97,missense_variant,p.Arg170Lys,ENST00000327230,;CEP97,missense_variant,p.Arg170Lys,ENST00000341893,;CEP97,upstream_gene_variant,,ENST00000462076,;CEP97,missense_variant,p.Arg45Lys,ENST00000467655,;CEP97,3_prime_UTR_variant,,ENST00000465011,;CEP97,non_coding_transcript_exon_variant,,ENST00000489172,;	1261	104	101	SUCCESS
TRPC1	7220	.	GRCh37	3	142467157	142467157	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	72	200	0	ENST00000476941.1:c.487G>A	p.Val163Ile	p.V163I	ENST00000476941	NM_001251845.1	163	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS58856.1	487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGTCATT	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF3,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000419313	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000476941	Transcript	.	.	ENSG00000144935	12333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	tolerated(0.94)	.	TRPC1_HUMAN	TRPC1	HGNC	.	.	UPI00001374A4	SNV	TRPC1,missense_variant,p.Val129Ile,ENST00000273482,;TRPC1,missense_variant,p.Val163Ile,ENST00000476941,;TRPC1,3_prime_UTR_variant,,ENST00000460401,;	973	200	225	SUCCESS
C3orf20	84077	.	GRCh37	3	14724699	14724699	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758945154	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	70	0	ENST00000253697.3:c.479T>C	p.Met160Thr	p.M160T	ENST00000253697	NM_032137.4	160	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS33706.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTATGTCGG	NONE	.	.	hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	.	.	ENSP00000253697	.	3/17	.	.	.	.	.	.	.	.	rs758945154	3/17	PASS	ENST00000253697	Transcript	.	.	ENSG00000131379	25320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.08)	.	CC020_HUMAN	C3orf20	HGNC	.	.	UPI000013CDE9	SNV	C3orf20,missense_variant,p.Met38Thr,ENST00000435614,;C3orf20,missense_variant,p.Met38Thr,ENST00000412910,;C3orf20,missense_variant,p.Met160Thr,ENST00000253697,;	931	70	97	SUCCESS
YEATS2	55689	.	GRCh37	3	183471971	183471971	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	60	192	0	ENST00000305135.5:c.1208C>G	p.Ser403Ter	p.S403*	ENST00000305135	NM_018023.4	403	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS43175.1	1208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCATTGG	NONE	.	.	hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7	.	.	ENSP00000306983	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000305135	Transcript	.	.	ENSG00000163872	25489	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YETS2_HUMAN	YEATS2	HGNC	.	.	UPI00001BB2B9	SNV	YEATS2,stop_gained,p.Ser403Ter,ENST00000305135,;	1403	192	197	SUCCESS
SGOL1	0	.	GRCh37	3	20225381	20225381	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	100	0	ENST00000263753.4:c.139A>G	p.Ile47Val	p.I47V	ENST00000263753	NM_001012410.3	47	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS33716.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGATTATTT	NONE	.	.	hmmpanther:PTHR21577,Pfam_domain:PF07558	.	.	ENSP00000263753	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000263753	Transcript	.	.	ENSG00000129810	25088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	tolerated(0.76)	.	SGOL1_HUMAN	SGOL1	HGNC	.	.	UPI00004CE17A	SNV	SGOL1,missense_variant,p.Ile47Val,ENST00000412868,;SGOL1,missense_variant,p.Ile47Val,ENST00000437051,;SGOL1,missense_variant,p.Ile47Val,ENST00000425061,;SGOL1,missense_variant,p.Ile47Val,ENST00000421451,;SGOL1,missense_variant,p.Ile47Val,ENST00000383774,;SGOL1,missense_variant,p.Ile47Val,ENST00000429446,;SGOL1,missense_variant,p.Ile47Val,ENST00000306698,;SGOL1,missense_variant,p.Ile47Val,ENST00000263753,;SGOL1,missense_variant,p.Ile47Val,ENST00000442720,;SGOL1,missense_variant,p.Ile47Val,ENST00000417364,;SGOL1,missense_variant,p.Ile47Val,ENST00000443724,;SGOL1,missense_variant,p.Ile47Val,ENST00000452020,;SGOL1,missense_variant,p.Ile47Val,ENST00000412997,;SGOL1,missense_variant,p.Ile47Val,ENST00000419233,;SGOL1-AS1,intron_variant,,ENST00000448208,;SGOL1-AS1,intron_variant,,ENST00000441442,;SGOL1,missense_variant,p.Ile47Val,ENST00000456624,;	279	100	92	SUCCESS
MYRIP	25924	.	GRCh37	3	40251524	40251524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	212	104	265	0	ENST00000302541.6:c.1845C>A	p.Asn615Lys	p.N615K	ENST00000302541	NM_015460.2	615	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2689.1	1845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAACCAGAA	NONE	.	.	hmmpanther:PTHR14555:SF6,hmmpanther:PTHR14555,Pfam_domain:PF04698	.	.	ENSP00000301972	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000302541	Transcript	.	.	ENSG00000170011	19156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	tolerated(0.17)	.	MYRIP_HUMAN	MYRIP	HGNC	.	.	UPI0000074787	SNV	MYRIP,missense_variant,p.Asn615Lys,ENST00000302541,;MYRIP,missense_variant,p.Asn615Lys,ENST00000425621,;MYRIP,missense_variant,p.Asn526Lys,ENST00000396217,;MYRIP,missense_variant,p.Asn615Lys,ENST00000444716,;MYRIP,missense_variant,p.Asn428Lys,ENST00000539167,;RN7SL411P,downstream_gene_variant,,ENST00000585204,;MYRIP,non_coding_transcript_exon_variant,,ENST00000459828,;MYRIP,missense_variant,p.Asn615Lys,ENST00000458292,;MYRIP,3_prime_UTR_variant,,ENST00000458441,;	2187	265	316	SUCCESS
TRAK1	22906	.	GRCh37	3	42236385	42236385	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	82	0	ENST00000327628.5:c.1065G>C	p.Met355Ile	p.M355I	ENST00000327628	NM_001042646.2	355	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS43072.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATGCCCAA	NONE	.	.	hmmpanther:PTHR15751:SF11,hmmpanther:PTHR15751	.	.	ENSP00000328998	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000327628	Transcript	.	.	ENSG00000182606	29947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.36)	.	TRAK1_HUMAN	TRAK1	HGNC	.	.	UPI0000139F52	SNV	TRAK1,missense_variant,p.Met281Ile,ENST00000449246,;TRAK1,missense_variant,p.Met297Ile,ENST00000396175,;TRAK1,missense_variant,p.Met73Ile,ENST00000427771,;TRAK1,missense_variant,p.Met297Ile,ENST00000341421,;TRAK1,missense_variant,p.Met355Ile,ENST00000327628,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;TRAK1,non_coding_transcript_exon_variant,,ENST00000484786,;	1465	82	103	SUCCESS
HYAL1	3373	.	GRCh37	3	50339584	50339584	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	235	105	281	0	ENST00000266031.4:c.804G>C	p.Glu268Asp	p.E268D	ENST00000266031		268	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS2816.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCTCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11769:SF21,hmmpanther:PTHR11769,Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445	.	.	ENSP00000266031	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000266031	Transcript	.	.	ENSG00000114378	5320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	HYAL1_HUMAN	HYAL1	HGNC	C9JRK1_HUMAN,C9JB49_HUMAN	.	UPI000003FD9D	SNV	HYAL1,missense_variant,p.Glu268Asp,ENST00000395143,;HYAL1,missense_variant,p.Glu9Asp,ENST00000447605,;HYAL1,missense_variant,p.Glu86Asp,ENST00000457214,;HYAL1,missense_variant,p.Glu268Asp,ENST00000266031,;HYAL1,missense_variant,p.Glu268Asp,ENST00000320295,;HYAL1,missense_variant,p.Glu268Asp,ENST00000395144,;NAT6,upstream_gene_variant,,ENST00000417393,;HYAL3,upstream_gene_variant,,ENST00000450982,;HYAL1,downstream_gene_variant,,ENST00000452672,;HYAL1,downstream_gene_variant,,ENST00000418723,;NAT6,upstream_gene_variant,,ENST00000443842,;HYAL3,upstream_gene_variant,,ENST00000336307,;NAT6,upstream_gene_variant,,ENST00000443094,;NAT6,upstream_gene_variant,,ENST00000442620,;HYAL3,upstream_gene_variant,,ENST00000359051,;NAT6,upstream_gene_variant,,ENST00000354862,;HYAL3,upstream_gene_variant,,ENST00000415204,;NAT6,upstream_gene_variant,,ENST00000450489,;HYAL3,upstream_gene_variant,,ENST00000513170,;NAT6,upstream_gene_variant,,ENST00000452674,;	1420	281	340	SUCCESS
MAEA	10296	.	GRCh37	4	1283683	1283683	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs371622498	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	42	115	0	ENST00000303400.4:c.-19A>C		p.*7*	ENST00000303400	NM_001017405.1			0	C:0	.	.	.	.	C	.	protein_coding	YES	CCDS33936.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTAATGTTT	NONE	byFrequency|byCluster	.	.	.	C:0.0002	ENSP00000302830	.	1/9	.	.	.	.	.	.	.	.	rs371622498	1/9	PASS	ENST00000303400	Transcript	.	.	ENSG00000090316	13731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAEA_HUMAN	MAEA	HGNC	D6RID6_HUMAN,D3DVP1_HUMAN,B4DQT1_HUMAN,B3KXS8_HUMAN	.	UPI00000343F4	SNV	MAEA,5_prime_UTR_variant,,ENST00000514708,;MAEA,5_prime_UTR_variant,,ENST00000503653,;MAEA,5_prime_UTR_variant,,ENST00000505177,;MAEA,5_prime_UTR_variant,,ENST00000502558,;MAEA,5_prime_UTR_variant,,ENST00000303400,;MAEA,5_prime_UTR_variant,,ENST00000452175,;MAEA,5_prime_UTR_variant,,ENST00000264750,;CTBP1-AS2,downstream_gene_variant,,ENST00000578730,;MAEA,upstream_gene_variant,,ENST00000503693,;MAEA,5_prime_UTR_variant,,ENST00000513301,;MAEA,5_prime_UTR_variant,,ENST00000509254,;MAEA,5_prime_UTR_variant,,ENST00000512308,;MAEA,upstream_gene_variant,,ENST00000509531,;MAEA,upstream_gene_variant,,ENST00000508634,;	45	115	146	SUCCESS
MSX1	4487	.	GRCh37	4	4861842	4861842	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	660	262	741	0	ENST00000382723.4:c.216G>A	p.Lys72=	p.K72=	ENST00000382723	NM_002448.3	72	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3378.2	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGCCGGG	NONE	.	.	hmmpanther:PTHR24338:SF3,hmmpanther:PTHR24338	.	.	ENSP00000372170	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000382723	Transcript	1	.	ENSG00000163132	7391	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSX1_HUMAN	MSX1	HGNC	E9KY19_HUMAN,E9KY18_HUMAN,E9KY17_HUMAN,E9KY16_HUMAN,E9KY15_HUMAN,E9KY14_HUMAN,E9KY13_HUMAN,E9KY12_HUMAN,E9KY11_HUMAN,E9KY10_HUMAN,E9KY09_HUMAN,E9KY08_HUMAN,E9KY07_HUMAN,E9KY06_HUMAN,E9KY05_HUMAN,E9KY04_HUMAN,E9KY03_HUMAN,E9KY02_HUMAN,E9KY01_HUMAN,E9KY00_HUMAN,E9KXZ9_HUMAN,E9KXZ8_HUMAN,E9KXZ7_HUMAN,E9KXZ6_HUMAN,E9KXZ5_HUMAN,E9KXZ4_HUMAN,E9KXZ3_HUMAN,E9KXZ2_HUMAN,E9KXZ1_HUMAN,E9KXZ0_HUMAN,E9KXY9_HUMAN,E9KXY8_HUMAN,E9KXY7_HUMAN,E9KXY6_HUMAN,E9KXY5_HUMAN,E9KXY4_HUMAN,E9KXY3_HUMAN,E9KXY2_HUMAN,E9KXY1_HUMAN,E9KXY0_HUMAN,E9KXX9_HUMAN,E9KXX8_HUMAN,E9KXX7_HUMAN,E9KXX6_HUMAN,E9KXX5_HUMAN,E9KXX4_HUMAN,E9KXX3_HUMAN,E9KXX2_HUMAN,E9KXX1_HUMAN,E9KXX0_HUMAN,E9KXW9_HUMAN,E9KXW8_HUMAN,E9KXW7_HUMAN,E9KXW6_HUMAN,E9KXW5_HUMAN,E9KXW4_HUMAN,E9KXW3_HUMAN,E9KXW2_HUMAN,E9KXW1_HUMAN,E9KXW0_HUMAN,E9KXV9_HUMAN,E9KXV8_HUMAN,E9KXV7_HUMAN,E9KXV6_HUMAN,E9KXV5_HUMAN,E9KXV4_HUMAN,E9KXV3_HUMAN,E9KXV2_HUMAN,E9KXV1_HUMAN,E9KXV0_HUMAN,E9KXU9_HUMAN,E9KXU8_HUMAN,E9KXU7_HUMAN,E9KXU6_HUMAN,E9KXU5_HUMAN,E9KXU4_HUMAN,E9KXU3_HUMAN,E9KXU2_HUMAN,E9KXU1_HUMAN,E9KXU0_HUMAN,E9KXT9_HUMAN,E9KXT8_HUMAN,E9KXT7_HUMAN,E9KXT6_HUMAN,E9KXT5_HUMAN,E9KXT4_HUMAN,E9KXT3_HUMAN,E9KXT2_HUMAN,E9KXT1_HUMAN,E9KXT0_HUMAN,E9KXS9_HUMAN,E9KXS8_HUMAN,E9KXS7_HUMAN,E9KXS6_HUMAN,A0SZU5_HUMAN	.	UPI0000D474F4	SNV	MSX1,synonymous_variant,p.%3D,ENST00000382723,;MSX1,upstream_gene_variant,,ENST00000468421,;	450	741	922	SUCCESS
FTH1P10	2502	.	GRCh37	5	17354291	17354291	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	76	154	0	ENST00000401830.3:n.443C>T		p.*148*	ENST00000401830				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGATTCG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000511821	Transcript	.	.	ENSG00000248223	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2139B15.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2139B15.2,non_coding_transcript_exon_variant,,ENST00000511821,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000401830,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000430907,;	150	155	283	SUCCESS
GRM6	2916	.	GRCh37	5	178419053	178419053	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774762067	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	64	0	ENST00000231188.5:c.536C>A	p.Pro179Gln	p.P179Q	ENST00000231188	NM_000843.3	179	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS4442.1	536	MUTECT|MUSE	.	GCTCCGGGGCT	NONE	byFrequency	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	.	.	ENSP00000231188	.	2/10	.	.	.	.	.	.	.	.	rs774762067	2/10	PASS	ENST00000231188	Transcript	1	.	ENSG00000113262	4598	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	GRM6_HUMAN	GRM6	HGNC	.	.	UPI000013C947	SNV	GRM6,missense_variant,p.Pro179Gln,ENST00000231188,;GRM6,missense_variant,p.Pro179Gln,ENST00000517717,;RP11-281O15.4,downstream_gene_variant,,ENST00000519491,;GRM6,downstream_gene_variant,,ENST00000519175,;GRM6,upstream_gene_variant,,ENST00000518082,;	715	64	35	SUCCESS
SEPP1	0	.	GRCh37	5	42808299	42808299	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	74	0	ENST00000506577.1:c.157G>T	p.Ala53Ser	p.A53S	ENST00000506577		53	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS43311.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCAACCA	NONE	.	.	hmmpanther:PTHR10105,hmmpanther:PTHR10105:SF3,Pfam_domain:PF04592	.	.	ENSP00000420939	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000514985	Transcript	.	.	ENSG00000250722	10751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0)	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,missense_variant,p.Ala53Ser,ENST00000506577,;SEPP1,missense_variant,p.Ala53Ser,ENST00000510965,;SEPP1,missense_variant,p.Ala53Ser,ENST00000507920,;SEPP1,missense_variant,p.Ala53Ser,ENST00000511224,;SEPP1,missense_variant,p.Ala53Ser,ENST00000514218,;SEPP1,missense_variant,p.Ala53Ser,ENST00000514985,;CTD-2325A15.5,downstream_gene_variant,,ENST00000606056,;SEPP1,non_coding_transcript_exon_variant,,ENST00000513303,;SEPP1,non_coding_transcript_exon_variant,,ENST00000509276,;SEPP1,non_coding_transcript_exon_variant,,ENST00000515626,;SEPP1,non_coding_transcript_exon_variant,,ENST00000506078,;SEPP1,non_coding_transcript_exon_variant,,ENST00000512980,;SEPP1,non_coding_transcript_exon_variant,,ENST00000508937,;SEPP1,non_coding_transcript_exon_variant,,ENST00000505309,;SEPP1,intron_variant,,ENST00000510650,;SEPP1,upstream_gene_variant,,ENST00000514403,;	414	74	98	SUCCESS
BRD9	65980	.	GRCh37	5	891776	891776	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	41	0	ENST00000467963.1:c.246T>G	p.Asp82Glu	p.D82E	ENST00000467963	NM_023924.4	82	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS34127.2	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCATCGTC	NONE	.	.	hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000419765	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000467963	Transcript	.	.	ENSG00000028310	25818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.48)	.	BRD9_HUMAN	BRD9	HGNC	.	.	UPI000020BEBE	SNV	BRD9,missense_variant,p.Asp82Glu,ENST00000467963,;BRD9,missense_variant,p.Met31Arg,ENST00000483173,;BRD9,5_prime_UTR_variant,,ENST00000435709,;BRD9,upstream_gene_variant,,ENST00000323510,;BRD9,upstream_gene_variant,,ENST00000388890,;TRIP13,upstream_gene_variant,,ENST00000513435,;BRD9,upstream_gene_variant,,ENST00000489093,;TRIP13,upstream_gene_variant,,ENST00000166345,;BRD9,upstream_gene_variant,,ENST00000494422,;TRIP13,upstream_gene_variant,,ENST00000508456,;BRD9,missense_variant,p.Met31Arg,ENST00000489816,;BRD9,missense_variant,p.Met31Arg,ENST00000495265,;BRD9,missense_variant,p.Met31Arg,ENST00000487688,;BRD9,missense_variant,p.Met31Arg,ENST00000466684,;BRD9,missense_variant,p.Met31Arg,ENST00000490814,;TRIP13,upstream_gene_variant,,ENST00000512024,;BRD9,upstream_gene_variant,,ENST00000495794,;	413	41	89	SUCCESS
ARMC2	84071	.	GRCh37	6	109232114	109232114	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	63	0	ENST00000392644.4:c.1036A>G	p.Arg346Gly	p.R346G	ENST00000392644	NM_032131.4	346	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS5069.2	1036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTAGAAAG	NONE	.	.	hmmpanther:PTHR21356	.	.	ENSP00000376417	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000392644	Transcript	.	.	ENSG00000118690	23045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ARMC2_HUMAN	ARMC2	HGNC	G5E993_HUMAN,B0QZC1_HUMAN	.	UPI000022CC80	SNV	ARMC2,missense_variant,p.Arg181Gly,ENST00000368972,;ARMC2,missense_variant,p.Arg346Gly,ENST00000392644,;RP11-249L21.4,upstream_gene_variant,,ENST00000447543,;	1204	63	60	SUCCESS
RPL12P1	729727	.	GRCh37	6	33368273	33368273	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	22	0	ENST00000374520.1:n.61G>A		p.*21*	ENST00000374520				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34430.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCACCTC	NONE	.	.	.	.	.	ENSP00000393963	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428849	Transcript	.	.	ENSG00000237649	6389	.	.	MODIFIER	3/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KIFC1_HUMAN	KIFC1	HGNC	.	.	UPI000012DDB8	SNV	KIFC1,missense_variant,p.His119Tyr,ENST00000450504,;KIFC1,intron_variant,,ENST00000428849,;KIFC1,non_coding_transcript_exon_variant,,ENST00000486695,;RPL12P1,non_coding_transcript_exon_variant,,ENST00000374520,;	.	22	27	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33405540	33405540	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	32	99	0	ENST00000418600.2:c.858G>T	p.Leu286=	p.L286=	ENST00000418600	NM_006772.2	286	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34434.2	858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGATGA	NONE	.	.	hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000403636	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000418600	Transcript	.	.	ENSG00000197283	11497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,synonymous_variant,p.%3D,ENST00000428982,;SYNGAP1,synonymous_variant,p.%3D,ENST00000418600,;SYNGAP1,synonymous_variant,p.%3D,ENST00000293748,;SYNGAP1,synonymous_variant,p.%3D,ENST00000449372,;MIR5004,upstream_gene_variant,,ENST00000579078,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000495633,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000479510,;	959	99	119	SUCCESS
RIMS1	22999	.	GRCh37	6	73001644	73001644	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	43	177	0	ENST00000521978.1:c.3745C>A	p.Arg1249=	p.R1249=	ENST00000521978	NM_014989.5	1249	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47449.1	3745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACCGACAG	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	26/34	.	.	.	.	.	.	.	.	.	26/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,synonymous_variant,p.%3D,ENST00000491071,;RIMS1,synonymous_variant,p.%3D,ENST00000517827,;RIMS1,synonymous_variant,p.%3D,ENST00000453976,;RIMS1,synonymous_variant,p.%3D,ENST00000522291,;RIMS1,synonymous_variant,p.%3D,ENST00000538414,;RIMS1,synonymous_variant,p.%3D,ENST00000522211,;RIMS1,synonymous_variant,p.%3D,ENST00000520567,;RIMS1,synonymous_variant,p.%3D,ENST00000518273,;RIMS1,synonymous_variant,p.%3D,ENST00000517960,;RIMS1,synonymous_variant,p.%3D,ENST00000517433,;RIMS1,synonymous_variant,p.%3D,ENST00000523963,;RIMS1,synonymous_variant,p.%3D,ENST00000425662,;RIMS1,synonymous_variant,p.%3D,ENST00000264839,;RIMS1,synonymous_variant,p.%3D,ENST00000401910,;RIMS1,synonymous_variant,p.%3D,ENST00000348717,;RIMS1,synonymous_variant,p.%3D,ENST00000521978,;RIMS1,synonymous_variant,p.%3D,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	3745	177	178	SUCCESS
MANEA	79694	.	GRCh37	6	96034580	96034596	+	protein_altering_variant	In_Frame_Del	DEL	TCTGAACTTAACTTGGA	TCTGAACTTAACTTGGA	ACCTC	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	TCTGAACTTAACTTGGA	TCTGAACTTAACTTGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	83	36	117	0	ENST00000358812.4:c.265_281delinsACCTC	p.Ser89_Asp94delinsThrSer	p.S89_D94delinsTS	ENST00000358812	NM_024641.3	89	TCTGAACTTAACTTGGAt/ACCTCt	0	.	.	.	.	.	ACCTC	SELNLD/TS	protein_coding	YES	CCDS5032.1	265-281	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	AAAGCCTCTGAACTTAACTTGGATGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13572:SF1,hmmpanther:PTHR13572	.	.	ENSP00000351669	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000358812	Transcript	.	.	ENSG00000172469	21072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANEA_HUMAN	MANEA	HGNC	.	.	UPI000020DF99	substitution	MANEA,protein_altering_variant,p.Ser89_Asp94delinsThrSer,ENST00000369293,;MANEA,protein_altering_variant,p.Ser89_Asp94delinsThrSer,ENST00000358812,;MANEA,upstream_gene_variant,,ENST00000474553,;	399-415	117	119	SUCCESS
FHL5	9457	.	GRCh37	6	97053798	97053798	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	28	139	0	ENST00000326771.2:c.355A>G	p.Lys119Glu	p.K119E	ENST00000326771	NM_020482.4	119	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS5035.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTAAGGGA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF6,hmmpanther:PTHR24205,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000326022	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000326771	Transcript	.	.	ENSG00000112214	17371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.08)	.	FHL5_HUMAN	FHL5	HGNC	.	.	UPI000006F158	SNV	FHL5,missense_variant,p.Lys119Glu,ENST00000450218,;FHL5,missense_variant,p.Lys119Glu,ENST00000541107,;FHL5,missense_variant,p.Lys119Glu,ENST00000326771,;	735	139	136	SUCCESS
FBXO24	26261	.	GRCh37	7	100184184	100184184	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	24	60	0	ENST00000241071.6:c.-65T>G		p.*22*	ENST00000241071	NM_033506.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5699.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAATTAGAG	NONE	.	3068	.	.	.	ENSP00000416558	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,5_prime_UTR_variant,,ENST00000360609,;FBXO24,5_prime_UTR_variant,,ENST00000241071,;FBXO24,intron_variant,,ENST00000461079,;LRCH4,upstream_gene_variant,,ENST00000310300,;FBXO24,upstream_gene_variant,,ENST00000465843,;FBXO24,upstream_gene_variant,,ENST00000427939,;FBXO24,upstream_gene_variant,,ENST00000466053,;LRCH4,upstream_gene_variant,,ENST00000497245,;FBXO24,upstream_gene_variant,,ENST00000468962,;PCOLCE-AS1,downstream_gene_variant,,ENST00000442166,;FBXO24,intron_variant,,ENST00000498195,;FBXO24,5_prime_UTR_variant,,ENST00000488079,;FBXO24,non_coding_transcript_exon_variant,,ENST00000474649,;LRCH4,upstream_gene_variant,,ENST00000485583,;LRCH4,upstream_gene_variant,,ENST00000470184,;	.	60	107	SUCCESS
SRPK2	6733	.	GRCh37	7	104767483	104767483	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	116	0	ENST00000357311.3:c.1746T>C	p.Tyr582=	p.Y582=	ENST00000357311	NM_182691.2	582	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS34724.1	1779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAAATAATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF102,hmmpanther:PTHR24055,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000377262	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000393651	Transcript	.	.	ENSG00000135250	11306	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRPK2_HUMAN	SRPK2	HGNC	.	.	UPI00001A4785	SNV	SRPK2,synonymous_variant,p.%3D,ENST00000474770,;SRPK2,synonymous_variant,p.%3D,ENST00000393651,;SRPK2,synonymous_variant,p.%3D,ENST00000489828,;SRPK2,synonymous_variant,p.%3D,ENST00000477925,;SRPK2,synonymous_variant,p.%3D,ENST00000357311,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,synonymous_variant,p.%3D,ENST00000465072,;SRPK2,non_coding_transcript_exon_variant,,ENST00000466917,;	1867	116	123	SUCCESS
DGKI	9162	.	GRCh37	7	137170153	137170153	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	102	241	0	ENST00000288490.5:c.2394A>T	p.Ser798=	p.S798=	ENST00000288490	NM_004717.2	798	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5845.1	2394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACTGACTG	NONE	.	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41	.	.	ENSP00000288490	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,synonymous_variant,p.%3D,ENST00000288490,;DGKI,synonymous_variant,p.%3D,ENST00000424189,;DGKI,synonymous_variant,p.%3D,ENST00000453654,;DGKI,synonymous_variant,p.%3D,ENST00000446122,;DGKI,intron_variant,,ENST00000460662,;	2395	241	308	SUCCESS
WEE2	494551	.	GRCh37	7	141416059	141416059	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	31	0	ENST00000397541.2:c.577C>T	p.Pro193Ser	p.P193S	ENST00000397541	NM_001105558.1	193	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS43660.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCTGCC	NONE	.	.	PIRSF_domain:PIRSF037281,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF75	.	.	ENSP00000380675	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000397541	Transcript	.	.	ENSG00000214102	19684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	deleterious(0.02)	.	WEE2_HUMAN	WEE2	HGNC	.	.	UPI000004E9D3	SNV	WEE2,missense_variant,p.Pro193Ser,ENST00000397541,;WEE2,upstream_gene_variant,,ENST00000493845,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000459753,;WEE2-AS1,intron_variant,,ENST00000488785,;WEE2-AS1,intron_variant,,ENST00000471512,;WEE2-AS1,intron_variant,,ENST00000465110,;WEE2-AS1,intron_variant,,ENST00000478332,;WEE2-AS1,intron_variant,,ENST00000462383,;WEE2-AS1,downstream_gene_variant,,ENST00000484172,;	983	31	34	SUCCESS
PTPRN2	5799	.	GRCh37	7	157959681	157959681	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	96	0	ENST00000389418.4:c.852C>G	p.Ala284=	p.A284=	ENST00000389418	NM_002847.3	284	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS5947.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGGCGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000374069	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000389418	Transcript	.	.	ENSG00000155093	9677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,synonymous_variant,p.%3D,ENST00000409483,;PTPRN2,synonymous_variant,p.%3D,ENST00000389416,;PTPRN2,synonymous_variant,p.%3D,ENST00000404321,;PTPRN2,synonymous_variant,p.%3D,ENST00000389418,;PTPRN2,synonymous_variant,p.%3D,ENST00000389413,;	862	96	115	SUCCESS
ESYT2	57488	.	GRCh37	7	158540904	158540904	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755282073	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	111	0	ENST00000251527.5:c.1706G>A	p.Arg569His	p.R569H	ENST00000251527	NM_020728.2	569	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34791.1	1706	MUTECT|MUSE	.	CCTGGCGCTTG	NONE	byFrequency	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF6,PROSITE_profiles:PS50004	.	.	ENSP00000251527	.	15/22	.	.	.	.	.	.	.	.	rs755282073	15/22	PASS	ENST00000251527	Transcript	.	.	ENSG00000117868	22211	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.08)	.	ESYT2_HUMAN	ESYT2	HGNC	.	.	UPI00002339BD	SNV	ESYT2,missense_variant,p.Arg569His,ENST00000251527,;ESYT2,missense_variant,p.Arg560His,ENST00000275418,;ESYT2,upstream_gene_variant,,ENST00000435514,;	1772	111	137	SUCCESS
CLIP2	7461	.	GRCh37	7	73790724	73790724	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	9	201	0	ENST00000223398.6:c.1993G>C	p.Gly665Arg	p.G665R	ENST00000223398	NM_003388.4	665	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS5569.1	1993	MUTECT|MUSE	.	AGCTGGGTAAC	NONE	.	.	hmmpanther:PTHR18916:SF10,hmmpanther:PTHR18916	.	.	ENSP00000223398	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000223398	Transcript	.	.	ENSG00000106665	2586	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.342)	.	deleterious(0.01)	.	CLIP2_HUMAN	CLIP2	HGNC	Q7Z5B7_HUMAN	.	UPI000007061E	SNV	CLIP2,missense_variant,p.Gly665Arg,ENST00000395060,;CLIP2,missense_variant,p.Gly630Arg,ENST00000361545,;CLIP2,missense_variant,p.Gly665Arg,ENST00000223398,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,non_coding_transcript_exon_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;	2320	201	276	SUCCESS
SUN1	23353	.	GRCh37	7	878543	878543	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	58	0	ENST00000401592.1:c.186A>C	p.Ala62=	p.A62=	ENST00000401592	NM_001130965.2	62	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS47525.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCATGCAC	NONE	.	.	hmmpanther:PTHR12911:SF18,hmmpanther:PTHR12911,Pfam_domain:PF09387	.	.	ENSP00000384015	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000401592	Transcript	.	.	ENSG00000164828	18587	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUN1_HUMAN	SUN1	HGNC	Q5S4N2_HUMAN,C9K051_HUMAN,C9JS54_HUMAN,C9JR15_HUMAN,C9JK55_HUMAN,C9JJU6_HUMAN	.	UPI000020E965	SNV	SUN1,synonymous_variant,p.%3D,ENST00000421580,;SUN1,synonymous_variant,p.%3D,ENST00000456758,;SUN1,synonymous_variant,p.%3D,ENST00000425407,;SUN1,synonymous_variant,p.%3D,ENST00000401592,;SUN1,synonymous_variant,p.%3D,ENST00000439679,;SUN1,synonymous_variant,p.%3D,ENST00000457378,;SUN1,synonymous_variant,p.%3D,ENST00000435699,;SUN1,synonymous_variant,p.%3D,ENST00000440380,;SUN1,synonymous_variant,p.%3D,ENST00000403868,;SUN1,synonymous_variant,p.%3D,ENST00000452783,;SUN1,synonymous_variant,p.%3D,ENST00000424128,;SUN1,synonymous_variant,p.%3D,ENST00000457598,;SUN1,synonymous_variant,p.%3D,ENST00000405266,;SUN1,synonymous_variant,p.%3D,ENST00000450881,;SUN1,synonymous_variant,p.%3D,ENST00000389574,;SUN1,upstream_gene_variant,,ENST00000429178,;SUN1,upstream_gene_variant,,ENST00000419312,;SUN1,non_coding_transcript_exon_variant,,ENST00000469755,;SUN1,non_coding_transcript_exon_variant,,ENST00000450538,;SUN1,non_coding_transcript_exon_variant,,ENST00000427969,;SUN1,non_coding_transcript_exon_variant,,ENST00000467483,;SUN1,non_coding_transcript_exon_variant,,ENST00000483996,;SUN1,non_coding_transcript_exon_variant,,ENST00000413171,;SUN1,non_coding_transcript_exon_variant,,ENST00000340926,;SUN1,upstream_gene_variant,,ENST00000471349,;SUN1,upstream_gene_variant,,ENST00000493681,;SUN1,upstream_gene_variant,,ENST00000477950,;	210	58	56	SUCCESS
NAPRT1	0	.	GRCh37	8	144660509	144660510	+	5_prime_UTR_variant	5'UTR	INS	-	-	CCGGC	rs201214521	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	43	0	ENST00000449291.2:c.-22_-21insGCCGG		p.*8*	ENST00000449291				0	CCGGC:0.3171	.	.	.	.	CCGGC	.	protein_coding	YES	CCDS6403.2	.	INDELOCATOR|VARSCANI	.	CGGACTCCGCC	NONE	byCluster|by1000G	.	.	.	CCGGC:0.1505	ENSP00000401508	.	1/13	.	.	.	.	.	.	.	.	rs201214521	1/13	PASS	ENST00000449291	Transcript	.	.	ENSG00000147813	30450	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNCB_HUMAN	NAPRT1	HGNC	.	.	UPI000058EC33	insertion	NAPRT1,5_prime_UTR_variant,,ENST00000435154,;NAPRT1,5_prime_UTR_variant,,ENST00000449291,;NAPRT1,5_prime_UTR_variant,,ENST00000426292,;EEF1D,downstream_gene_variant,,ENST00000423316,;EEF1D,downstream_gene_variant,,ENST00000528610,;EEF1D,downstream_gene_variant,,ENST00000530109,;EEF1D,downstream_gene_variant,,ENST00000533749,;EEF1D,downstream_gene_variant,,ENST00000530445,;EEF1D,downstream_gene_variant,,ENST00000533494,;EEF1D,downstream_gene_variant,,ENST00000530191,;EEF1D,downstream_gene_variant,,ENST00000529272,;EEF1D,downstream_gene_variant,,ENST00000534380,;NAPRT1,upstream_gene_variant,,ENST00000276844,;EEF1D,downstream_gene_variant,,ENST00000419152,;EEF1D,downstream_gene_variant,,ENST00000526838,;EEF1D,downstream_gene_variant,,ENST00000532400,;EEF1D,downstream_gene_variant,,ENST00000524624,;EEF1D,downstream_gene_variant,,ENST00000530616,;EEF1D,downstream_gene_variant,,ENST00000531218,;EEF1D,downstream_gene_variant,,ENST00000529576,;EEF1D,downstream_gene_variant,,ENST00000528382,;EEF1D,downstream_gene_variant,,ENST00000532741,;EEF1D,downstream_gene_variant,,ENST00000395119,;NAPRT1,upstream_gene_variant,,ENST00000340490,;EEF1D,downstream_gene_variant,,ENST00000317198,;EEF1D,downstream_gene_variant,,ENST00000529516,;EEF1D,downstream_gene_variant,,ENST00000533204,;EEF1D,downstream_gene_variant,,ENST00000534377,;EEF1D,downstream_gene_variant,,ENST00000531621,;EEF1D,downstream_gene_variant,,ENST00000442189,;RP11-661A12.9,downstream_gene_variant,,ENST00000531730,;RP11-661A12.7,upstream_gene_variant,,ENST00000529247,;NAPRT1,upstream_gene_variant,,ENST00000460623,;NAPRT1,intron_variant,,ENST00000491904,;NAPRT1,upstream_gene_variant,,ENST00000464332,;NAPRT1,upstream_gene_variant,,ENST00000498076,;NAPRT1,upstream_gene_variant,,ENST00000462059,;NAPRT1,upstream_gene_variant,,ENST00000529179,;NAPRT1,upstream_gene_variant,,ENST00000480946,;EEF1D,downstream_gene_variant,,ENST00000526786,;NAPRT1,upstream_gene_variant,,ENST00000532645,;EEF1D,downstream_gene_variant,,ENST00000530848,;EEF1D,downstream_gene_variant,,ENST00000529007,;EEF1D,downstream_gene_variant,,ENST00000527741,;EEF1D,downstream_gene_variant,,ENST00000524397,;EEF1D,downstream_gene_variant,,ENST00000533833,;NAPRT1,upstream_gene_variant,,ENST00000488096,;NAPRT1,upstream_gene_variant,,ENST00000525583,;EEF1D,downstream_gene_variant,,ENST00000534232,;	274-275	43	42	SUCCESS
PLEC	5339	.	GRCh37	8	144990483	144990518	+	inframe_deletion	In_Frame_Del	DEL	GCGGGAGCCGGCCCGGGAGCCGGTGCGCGAGCCGGT	GCGGGAGCCGGCCCGGGAGCCGGTGCGCGAGCCGGT	-	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	GCGGGAGCCGGCCCGGGAGCCGGTGCGCGAGCCGGT	GCGGGAGCCGGCCCGGGAGCCGGTGCGCGAGCCGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	127	30	87	0	ENST00000322810.4:c.13882_13917del	p.Thr4628_Arg4639del	p.T4628_R4639del	ENST00000322810	NM_201380.2	4628	ACCGGCTCGCGCACCGGCTCCCGGGCCGGCTCCCGC/-	0	.	.	.	.	.	-	TGSRTGSRAGSR/-	protein_coding	YES	CCDS43772.1	13882-13917	INDELOCATOR|VARSCANI	.	GCCGCGGCGGGAGCCGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGG	NONE	.	.	hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915,Low_complexity_(Seg):seg	.	.	ENSP00000323856	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	deletion	PLEC,inframe_deletion,p.Thr4628_Arg4639del,ENST00000322810,;PLEC,inframe_deletion,p.Thr4514_Arg4525del,ENST00000527096,;PLEC,inframe_deletion,p.Thr4491_Arg4502del,ENST00000345136,;PLEC,inframe_deletion,p.Thr4495_Arg4506del,ENST00000357649,;PLEC,inframe_deletion,p.Thr4459_Arg4470del,ENST00000398774,;PLEC,inframe_deletion,p.Thr4491_Arg4502del,ENST00000354589,;PLEC,inframe_deletion,p.Thr4477_Arg4488del,ENST00000356346,;PLEC,inframe_deletion,p.Thr4518_Arg4529del,ENST00000436759,;PLEC,inframe_deletion,p.Thr4469_Arg4480del,ENST00000354958,;	14052-14087	87	157	SUCCESS
CCDC180	100499483	.	GRCh37	9	100117288	100117288	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	47	0	ENST00000375202.2:c.3394C>G	p.Gln1132Glu	p.Q1132E	ENST00000375202		1132	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS35077.2	3394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCAGGTA	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	38/51	.	.	.	.	.	.	.	.	.	38/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,missense_variant,p.Gln1103Glu,ENST00000357054,;CCDC180,missense_variant,p.Gln1132Glu,ENST00000375202,;CCDC180,missense_variant,p.Gln1132Glu,ENST00000529487,;CCDC180,splice_region_variant,,ENST00000395220,;RP11-23J9.4,splice_region_variant,,ENST00000532526,;RP11-23J9.4,splice_region_variant,,ENST00000375206,;CCDC180,splice_region_variant,,ENST00000471314,;RP11-23J9.4,splice_region_variant,,ENST00000534123,;RP11-23J9.4,splice_region_variant,,ENST00000529787,;CCDC180,downstream_gene_variant,,ENST00000530011,;CCDC180,downstream_gene_variant,,ENST00000528678,;	4746	47	69	SUCCESS
SLC31A2	1318	.	GRCh37	9	115913282	115913282	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	67	0	ENST00000259392.3:c.-73C>T		p.*25*	ENST00000259392	NM_001860.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6788.1	.	MUTECT|MUSE	.	GGCGGCGGTTG	NONE	.	.	.	.	.	ENSP00000259392	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000259392	Transcript	.	.	ENSG00000136867	11017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COPT2_HUMAN	SLC31A2	HGNC	Q53X94_HUMAN	.	UPI0000127EC4	SNV	SLC31A2,5_prime_UTR_variant,,ENST00000259392,;SLC31A2,non_coding_transcript_exon_variant,,ENST00000490809,;SLC31A2,upstream_gene_variant,,ENST00000374220,;	61	67	78	SUCCESS
PAEP	5047	.	GRCh37	9	138457313	138457313	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373981009	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	73	0	ENST00000277508.5:c.479C>A	p.Pro160His	p.P160H	ENST00000277508	NM_001018049.1	160	cCc/cAc	0	A:0	.	.	.	.	A	P/H	protein_coding	YES	CCDS35173.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCCCTGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF67	.	A:0.0001	ENSP00000417898	.	5/7	.	.	.	.	.	.	.	.	rs373981009	5/7	PASS	ENST00000479141	Transcript	.	.	ENSG00000122133	8573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0.04)	.	PAEP_HUMAN	PAEP	HGNC	Q5T6T6_HUMAN	.	UPI0000038E3A	SNV	PAEP,missense_variant,p.Pro111His,ENST00000433563,;PAEP,missense_variant,p.Pro13His,ENST00000457014,;PAEP,missense_variant,p.Pro112His,ENST00000418284,;PAEP,missense_variant,p.Pro160His,ENST00000277508,;PAEP,missense_variant,p.Pro106His,ENST00000454923,;PAEP,missense_variant,p.Pro160His,ENST00000371766,;PAEP,missense_variant,p.Pro160His,ENST00000479141,;PAEP,missense_variant,p.Pro159Thr,ENST00000371768,;	523	73	85	SUCCESS
TLN1	7094	.	GRCh37	9	35703773	35703773	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	58	0	ENST00000314888.9:c.6356A>G	p.Lys2119Arg	p.K2119R	ENST00000314888	NM_006289.3	2119	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS35009.1	6356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCTTGGCA	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	47/57	.	.	.	.	.	.	.	.	.	47/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.08)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Lys2013Arg,ENST00000540444,;TLN1,missense_variant,p.Lys2119Arg,ENST00000314888,;TLN1,splice_region_variant,,ENST00000464379,;TLN1,upstream_gene_variant,,ENST00000489255,;TLN1,downstream_gene_variant,,ENST00000495712,;TLN1,splice_region_variant,,ENST00000466916,;TLN1,downstream_gene_variant,,ENST00000486788,;TLN1,downstream_gene_variant,,ENST00000465002,;	6710	58	46	SUCCESS
CXorf64	0	.	GRCh37	X	125954737	125954737	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	52	120	0	ENST00000371125.3:c.116C>G	p.Ser39Cys	p.S39C	ENST00000371125	NM_001122716.1	39	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS48163.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTCCAAGC	NONE	.	.	Pfam_domain:PF15488	.	.	ENSP00000360166	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371125	Transcript	.	.	ENSG00000183631	34498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.04)	.	CX064_HUMAN	CXorf64	HGNC	.	.	UPI00004A3B00	SNV	CXorf64,missense_variant,p.Ser39Cys,ENST00000371125,;	196	120	199	SUCCESS
OFD1	8481	.	GRCh37	X	13778504	13778504	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	61	95	0	ENST00000340096.6:c.1925C>G	p.Ala642Gly	p.A642G	ENST00000340096	NM_003611.2	642	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS14157.1	1925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCCGAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000344314	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000340096	Transcript	.	.	ENSG00000046651	2567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	deleterious(0.02)	.	OFD1_HUMAN	OFD1	HGNC	E9KL37_HUMAN,A8K2T9_HUMAN,A6NF31_HUMAN	.	UPI0000130C40	SNV	OFD1,missense_variant,p.Ala502Gly,ENST00000380567,;OFD1,missense_variant,p.Ala642Gly,ENST00000340096,;OFD1,missense_variant,p.Ala602Gly,ENST00000380550,;OFD1,non_coding_transcript_exon_variant,,ENST00000490265,;OFD1,upstream_gene_variant,,ENST00000464463,;	2252	95	102	SUCCESS
MAGEA10	4109	.	GRCh37	X	151304139	151304139	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs768227548	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	87	117	0	ENST00000244096.3:c.-47C>G		p.*16*	ENST00000244096	NM_001011543.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14705.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGCGATG	NONE	.	.	.	.	.	ENSP00000359347	.	4/4	.	.	.	.	.	.	.	.	rs768227548	4/4	PASS	ENST00000370323	Transcript	.	.	ENSG00000124260	6797	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGAA_HUMAN	MAGEA10	HGNC	J3QRD7_HUMAN,J3KT71_HUMAN,C9J9A2_HUMAN,C9J958_HUMAN	.	UPI00001AE6DA	SNV	MAGEA10,5_prime_UTR_variant,,ENST00000444834,;MAGEA10,5_prime_UTR_variant,,ENST00000579960,;MAGEA10,5_prime_UTR_variant,,ENST00000583480,;MAGEA10,5_prime_UTR_variant,,ENST00000244096,;MAGEA10,5_prime_UTR_variant,,ENST00000370323,;MAGEA10,5_prime_UTR_variant,,ENST00000427322,;RP11-329E24.6,upstream_gene_variant,,ENST00000453915,;RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000577437,;RP11-1007I13.4,intron_variant,,ENST00000509345,;RP11-1007I13.4,intron_variant,,ENST00000583636,;	271	117	203	SUCCESS
CFP	5199	.	GRCh37	X	47485398	47485398	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	68	63	0	ENST00000247153.3:c.1244+59C>T		p.*415*	ENST00000247153	NM_002621.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGACTCT	NONE	.	.	.	.	.	ENSP00000247153	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000247153	Transcript	.	.	ENSG00000126759	8864	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROP_HUMAN	CFP	HGNC	E9PAQ1_HUMAN,C9J7V5_HUMAN	.	UPI0000132325	SNV	CFP,3_prime_UTR_variant,,ENST00000377005,;CFP,intron_variant,,ENST00000247153,;CFP,intron_variant,,ENST00000396992,;CFP,downstream_gene_variant,,ENST00000469388,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,intron_variant,,ENST00000478222,;	.	63	119	SUCCESS
VCX	26609	.	GRCh37	X	7811110	7811110	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	27	36	0	ENST00000381059.3:c.-135G>T		p.*45*	ENST00000381059	NM_013452.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14128.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CATTGGCTGGG	NONE	.	.	.	.	.	ENSP00000370447	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000381059	Transcript	.	.	ENSG00000182583	12667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VCX1_HUMAN	VCX	HGNC	.	.	UPI0000138291	SNV	VCX,5_prime_UTR_variant,,ENST00000341408,;VCX,5_prime_UTR_variant,,ENST00000381059,;	85	36	42	SUCCESS
ZCCHC24	219654	.	GRCh37	10	81154141	81154141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	76	0	ENST00000372336.3:c.503G>T	p.Gly168Val	p.G168V	ENST00000372336	NM_153367.3	168	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7359.1	503	MUTECT|MUSE	.	ACTCGCCGAAG	NONE	.	.	hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF2,Pfam_domain:PF13695	.	.	ENSP00000361411	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000372336	Transcript	.	.	ENSG00000165424	26911	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZCH24_HUMAN	ZCCHC24	HGNC	.	.	UPI000006F100	SNV	ZCCHC24,missense_variant,p.Gly168Val,ENST00000372336,;ZCCHC24,synonymous_variant,p.%3D,ENST00000372333,;RP11-342M3.5,intron_variant,,ENST00000438554,;	690	76	63	SUCCESS
SAA2	6289	.	GRCh37	11	18266927	18266927	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	9	90	0	ENST00000256733.4:c.366C>T	p.Tyr122=	p.Y122=	ENST00000256733	NM_030754.4	122	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS7833.1	366	RADIA|MUSE|VARSCANS	.	GCTCAGTATTT	NONE	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197	.	.	ENSP00000436126	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000526900	Transcript	.	.	ENSG00000134339	10514	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAA2_HUMAN	SAA2	HGNC	.	.	UPI000016A553	SNV	SAA2,synonymous_variant,p.%3D,ENST00000529528,;SAA2,synonymous_variant,p.%3D,ENST00000526900,;SAA2,synonymous_variant,p.%3D,ENST00000256733,;SAA2,intron_variant,,ENST00000530400,;SAA2,intron_variant,,ENST00000414546,;SAA2,intron_variant,,ENST00000528349,;RNA5SP333,downstream_gene_variant,,ENST00000363466,;SAA2-SAA4,intron_variant,,ENST00000524555,;	550	90	96	SUCCESS
MTA2	9219	.	GRCh37	11	62364838	62364838	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	16	128	0	ENST00000278823.2:c.643C>T	p.Gln215Ter	p.Q215*	ENST00000278823	NM_004739.3	215	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS8022.1	643	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGCCGAA	NONE	.	.	hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865,PROSITE_profiles:PS51156	.	.	ENSP00000278823	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000278823	Transcript	.	.	ENSG00000149480	7411	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTA2_HUMAN	MTA2	HGNC	Q68DB1_HUMAN	.	UPI000012F743	SNV	MTA2,stop_gained,p.Gln42Ter,ENST00000524902,;MTA2,stop_gained,p.Gln42Ter,ENST00000527204,;MTA2,stop_gained,p.Gln215Ter,ENST00000278823,;EML3,downstream_gene_variant,,ENST00000278845,;EML3,downstream_gene_variant,,ENST00000494176,;EML3,downstream_gene_variant,,ENST00000394773,;EML3,downstream_gene_variant,,ENST00000529309,;EML3,downstream_gene_variant,,ENST00000394776,;EML3,downstream_gene_variant,,ENST00000531557,;EML3,downstream_gene_variant,,ENST00000439994,;MTA2,non_coding_transcript_exon_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000532239,;MTA2,downstream_gene_variant,,ENST00000526844,;EML3,downstream_gene_variant,,ENST00000494448,;MTA2,upstream_gene_variant,,ENST00000531179,;EML3,downstream_gene_variant,,ENST00000460939,;	1033	128	120	SUCCESS
MTA2	9219	.	GRCh37	11	62364839	62364839	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	15	128	0	ENST00000278823.2:c.642G>A	p.Arg214=	p.R214=	ENST00000278823	NM_004739.3	214	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8022.1	642	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCGAAT	NONE	.	.	hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865,PROSITE_profiles:PS51156	.	.	ENSP00000278823	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000278823	Transcript	.	.	ENSG00000149480	7411	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTA2_HUMAN	MTA2	HGNC	Q68DB1_HUMAN	.	UPI000012F743	SNV	MTA2,synonymous_variant,p.%3D,ENST00000524902,;MTA2,synonymous_variant,p.%3D,ENST00000527204,;MTA2,synonymous_variant,p.%3D,ENST00000278823,;EML3,downstream_gene_variant,,ENST00000278845,;EML3,downstream_gene_variant,,ENST00000494176,;EML3,downstream_gene_variant,,ENST00000394773,;EML3,downstream_gene_variant,,ENST00000529309,;EML3,downstream_gene_variant,,ENST00000394776,;EML3,downstream_gene_variant,,ENST00000531557,;EML3,downstream_gene_variant,,ENST00000439994,;MTA2,non_coding_transcript_exon_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000532239,;MTA2,downstream_gene_variant,,ENST00000526844,;EML3,downstream_gene_variant,,ENST00000494448,;MTA2,upstream_gene_variant,,ENST00000531179,;EML3,downstream_gene_variant,,ENST00000460939,;	1032	128	117	SUCCESS
ANKRD13A	88455	.	GRCh37	12	110457106	110457106	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	19	190	0	ENST00000261739.4:c.707T>G	p.Leu236Arg	p.L236R	ENST00000261739	NM_033121.1	236	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS9140.1	707	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTCGATA	NONE	.	.	hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4,Pfam_domain:PF11904	.	.	ENSP00000261739	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000261739	Transcript	.	.	ENSG00000076513	21268	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	AN13A_HUMAN	ANKRD13A	HGNC	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN	.	UPI000004472C	SNV	ANKRD13A,missense_variant,p.Leu90Arg,ENST00000547639,;ANKRD13A,missense_variant,p.Leu236Arg,ENST00000261739,;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000550404,;ANKRD13A,missense_variant,p.Leu148Arg,ENST00000553025,;ANKRD13A,upstream_gene_variant,,ENST00000546476,;	873	190	175	SUCCESS
PRPH	5630	.	GRCh37	12	49692075	49692075	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	51	0	ENST00000257860.4:c.1352T>G	p.Val451Gly	p.V451G	ENST00000257860	NM_006262.3	451	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS8783.1	1352	MUTECT|MUSE	.	GGTGGTGACAG	NONE	.	.	hmmpanther:PTHR23239:SF29,hmmpanther:PTHR23239	.	.	ENSP00000257860	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000257860	Transcript	.	.	ENSG00000135406	9461	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.811)	.	deleterious(0)	.	PERI_HUMAN	PRPH	HGNC	.	.	UPI000013CF92	SNV	PRPH,missense_variant,p.Val181Gly,ENST00000532332,;PRPH,missense_variant,p.Val451Gly,ENST00000257860,;PRPH,downstream_gene_variant,,ENST00000451891,;RP11-161H23.9,intron_variant,,ENST00000553259,;PRPH,downstream_gene_variant,,ENST00000551194,;PRPH,non_coding_transcript_exon_variant,,ENST00000530631,;PRPH,downstream_gene_variant,,ENST00000533401,;PRPH,downstream_gene_variant,,ENST00000537252,;	2851	51	54	SUCCESS
TESPA1	9840	.	GRCh37	12	55368184	55368184	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs755007871	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	47	0	ENST00000316577.8:c.163G>A	p.Gly55Arg	p.G55R	ENST00000316577	NM_001098815.2	55	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS44913.1	163	MUTECT|MUSE	.	CTTACCTTCTT	NONE	.	.	hmmpanther:PTHR17469:SF1,hmmpanther:PTHR17469	.	.	ENSP00000400892	.	2/11	.	.	.	.	.	.	.	.	rs755007871	2/11	PASS	ENST00000449076	Transcript	.	.	ENSG00000135426	29109	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	TESP1_HUMAN	TESPA1	HGNC	E9PN46_HUMAN,E9PM24_HUMAN,E9PIT9_HUMAN,E9PIN8_HUMAN,E9PHY9_HUMAN,B4DHC1_HUMAN	.	UPI00001FC438	SNV	TESPA1,missense_variant,p.Gly55Arg,ENST00000316577,;TESPA1,missense_variant,p.Gly55Arg,ENST00000449076,;TESPA1,missense_variant,p.Gly55Arg,ENST00000524668,;TESPA1,upstream_gene_variant,,ENST00000526532,;TESPA1,upstream_gene_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000533607,;TESPA1,upstream_gene_variant,,ENST00000533446,;TESPA1,upstream_gene_variant,,ENST00000531122,;TESPA1,upstream_gene_variant,,ENST00000532804,;TESPA1,upstream_gene_variant,,ENST00000524622,;TESPA1,upstream_gene_variant,,ENST00000524959,;TESPA1,missense_variant,p.Gly54Arg,ENST00000525978,;TESPA1,upstream_gene_variant,,ENST00000524923,;	296	47	50	SUCCESS
NEDD1	121441	.	GRCh37	12	97331084	97331084	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1398471335	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	16	105	0	ENST00000266742.4:c.1030G>C	p.Ala344Pro	p.A344P	ENST00000266742	NM_152905.3	344	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS44955.1	1051	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGCACCT	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333	.	.	ENSP00000451211	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000557644	Transcript	.	.	ENSG00000139350	7723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.26)	.	.	NEDD1	HGNC	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V3F1_HUMAN,G3V2V3_HUMAN,G3V2M9_HUMAN	.	UPI000004D249	SNV	NEDD1,missense_variant,p.Ala255Pro,ENST00000457368,;NEDD1,missense_variant,p.Ala351Pro,ENST00000557644,;NEDD1,missense_variant,p.Ala255Pro,ENST00000411739,;NEDD1,missense_variant,p.Ala344Pro,ENST00000266742,;NEDD1,missense_variant,p.Ala344Pro,ENST00000429527,;NEDD1,downstream_gene_variant,,ENST00000553609,;NEDD1,downstream_gene_variant,,ENST00000557478,;NEDD1,downstream_gene_variant,,ENST00000557454,;NEDD1,downstream_gene_variant,,ENST00000555114,;NEDD1,downstream_gene_variant,,ENST00000555806,;	1197	105	116	SUCCESS
TRAF3	7187	.	GRCh37	14	103357754	103357754	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	32	0	ENST00000392745.2:c.819G>A		p.X273_splice	ENST00000392745		273	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS9975.1	819	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGGTGGG	NONE	.	.	hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF72,PIRSF_domain:PIRSF015614	.	.	ENSP00000454207	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000560371	Transcript	1	.	ENSG00000131323	12033	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRAF3_HUMAN	TRAF3	HGNC	H0YMI8_HUMAN	.	UPI000000CBF9	SNV	TRAF3,synonymous_variant,p.%3D,ENST00000392745,;TRAF3,synonymous_variant,p.%3D,ENST00000560371,;TRAF3,synonymous_variant,p.%3D,ENST00000351691,;TRAF3,synonymous_variant,p.%3D,ENST00000559734,;TRAF3,synonymous_variant,p.%3D,ENST00000347662,;TRAF3,intron_variant,,ENST00000539721,;TRAF3,synonymous_variant,p.%3D,ENST00000558700,;	1036	32	29	SUCCESS
KIF26A	26153	.	GRCh37	14	104638072	104638072	+	synonymous_variant	Silent	SNP	C	C	T	rs368488344	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	84	0	ENST00000423312.2:c.1126C>T	p.Leu376=	p.L376=	ENST00000423312	NM_015656.1	376	Ctg/Ttg	0	G:0	.	.	.	.	T	L	protein_coding	YES	CCDS45171.1	1126	MUTECT|MUSE	.	TTATGCTGCGG	NONE	byCluster	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	G:0.0001	ENSP00000388241	.	6/15	.	.	.	.	.	.	.	.	rs368488344	6/15	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,synonymous_variant,p.%3D,ENST00000315264,;KIF26A,synonymous_variant,p.%3D,ENST00000423312,;	1126	84	79	SUCCESS
CHRNA3	1136	.	GRCh37	15	78894061	78894061	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	98	0	ENST00000326828.5:c.923T>G	p.Leu308Arg	p.L308R	ENST00000326828	NM_000743.4	308	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS10305.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGAGGTAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF445,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	.	.	ENSP00000315602	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000326828	Transcript	1	.	ENSG00000080644	1957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACHA3_HUMAN	CHRNA3	HGNC	Q6EWN2_HUMAN,B4DP53_HUMAN	.	UPI000013D783	SNV	CHRNA3,missense_variant,p.Leu308Arg,ENST00000326828,;CHRNA3,missense_variant,p.Leu308Arg,ENST00000348639,;CHRNA3,upstream_gene_variant,,ENST00000559002,;CHRNA3,downstream_gene_variant,,ENST00000558903,;CHRNA3,missense_variant,p.Leu308Arg,ENST00000559658,;	1308	98	85	SUCCESS
CACNA1H	8912	.	GRCh37	16	1250720	1250720	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	43	0	ENST00000348261.5:c.1124T>A	p.Ile375Asn	p.I375N	ENST00000348261	NM_021098.2	375	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS45375.1	1124	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGATCACGC	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192,Transmembrane_helices:TMhelix	.	.	ENSP00000334198	.	8/35	.	.	.	.	.	.	.	.	.	8/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.Ile375Asn,ENST00000565831,;CACNA1H,missense_variant,p.Ile375Asn,ENST00000358590,;CACNA1H,missense_variant,p.Ile375Asn,ENST00000348261,;CACNA1H,downstream_gene_variant,,ENST00000564954,;	1372	43	36	SUCCESS
CRAMP1L	0	.	GRCh37	16	1691138	1691138	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	46	0	ENST00000293925.5:c.779-2A>C		p.X260_splice	ENST00000293925	NM_020825.3	260		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10440.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAAGGTAT	NONE	.	.	.	.	.	ENSP00000380559	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397412	Transcript	.	.	ENSG00000007545	14122	.	.	HIGH	5/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRML_HUMAN	CRAMP1L	HGNC	B2RNX8_HUMAN	.	UPI000066D946	SNV	CRAMP1L,splice_acceptor_variant,,ENST00000436138,;CRAMP1L,splice_acceptor_variant,,ENST00000293925,;CRAMP1L,splice_acceptor_variant,,ENST00000397412,;LA16c-431H6.6,splice_acceptor_variant,,ENST00000454337,;	.	46	49	SUCCESS
LPCAT2	54947	.	GRCh37	16	55562430	55562430	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	23	177	0	ENST00000262134.5:c.453T>A	p.Asp151Glu	p.D151E	ENST00000262134	NM_017839.4	151	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS10753.1	453	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATGGAAT	NONE	.	.	hmmpanther:PTHR23063:SF12,hmmpanther:PTHR23063,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000262134	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000262134	Transcript	.	.	ENSG00000087253	26032	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCAT2_HUMAN	LPCAT2	HGNC	.	.	UPI00001BD900	SNV	LPCAT2,missense_variant,p.Asp9Glu,ENST00000564084,;LPCAT2,missense_variant,p.Asp151Glu,ENST00000262134,;LPCAT2,downstream_gene_variant,,ENST00000566911,;LPCAT2,upstream_gene_variant,,ENST00000566915,;	637	177	156	SUCCESS
SNAI3	333929	.	GRCh37	16	88752824	88752824	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	25	0	ENST00000332281.5:c.-10G>A		p.*4*	ENST00000332281	NM_178310.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32505.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCCCGGGC	NONE	.	.	.	.	.	ENSP00000327968	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000332281	Transcript	.	.	ENSG00000185669	18411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNAI3_HUMAN	SNAI3	HGNC	.	.	UPI0000197CFA	SNV	SNAI3,5_prime_UTR_variant,,ENST00000332281,;SNAI3-AS1,non_coding_transcript_exon_variant,,ENST00000596908,;SNAI3-AS1,non_coding_transcript_exon_variant,,ENST00000567997,;SNAI3-AS1,intron_variant,,ENST00000563261,;	78	25	26	SUCCESS
WNT9B	7484	.	GRCh37	17	44954034	44954034	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	21	153	0	ENST00000290015.2:c.1024G>C	p.Glu342Gln	p.E342Q	ENST00000290015	NM_003396.1	342	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS11506.1	1024	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGGAGTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12027:SF84,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000290015	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290015	Transcript	.	.	ENSG00000158955	12779	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	WNT9B_HUMAN	WNT9B	HGNC	.	.	UPI000013DFB5	SNV	WNT9B,missense_variant,p.Glu342Gln,ENST00000290015,;WNT9B,intron_variant,,ENST00000393461,;WNT9B,downstream_gene_variant,,ENST00000575372,;	1077	153	151	SUCCESS
MTMR4	9110	.	GRCh37	17	56586048	56586048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	113	0	ENST00000323456.5:c.448C>A	p.Gln150Lys	p.Q150K	ENST00000323456	NM_004687.4	150	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS11608.1	448	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGACATA	NONE	.	.	hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602	.	.	ENSP00000325285	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.146)	.	deleterious(0.04)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Gln164Lys,ENST00000583656,;MTMR4,missense_variant,p.Gln150Lys,ENST00000323456,;MTMR4,missense_variant,p.Gln150Lys,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583243,;MTMR4,downstream_gene_variant,,ENST00000579921,;MTMR4,non_coding_transcript_exon_variant,,ENST00000583966,;MTMR4,non_coding_transcript_exon_variant,,ENST00000580983,;MTMR4,intron_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000582390,;	573	113	94	SUCCESS
TP53	7157	.	GRCh37	17	7577115	7577115	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1057519983	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	72	0	ENST00000269305.4:c.823T>C	p.Cys275Arg	p.C275R	ENST00000269305	NM_001126112.2	275	Tgt/Cgt	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS11118.1	823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACAAACAC	SITE|p.C275R|c.823T>C|8,CODON|p.0?|c.1_1182del1182|6,CODON|p.C275C|c.825T>C|4,CODON|p.C275W|c.825T>G|8,CODON|p.C275*|c.825T>A|3,CODON|p.C275F|c.824G>T|10,CODON|p.C275S|c.824G>C|4,CODON|p.C275Y|c.824G>A|5,CODON|p.C275F|c.824G>T|43,CODON|p.C275F|c.824G>T|5,CODON|p.C275Y|c.824G>A|54,CODON|p.C275Y|c.824G>A|5,CODON|p.C275Y|c.824G>A|11,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277*|c.831T>A|6,BUFFER|p.C277C|c.831T>C|4,BUFFER|p.C277Y|c.830G>A|15,BUFFER|p.C277F|c.830G>T|22,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.A276D|c.827C>A|9,BUFFER|p.A276G|c.827C>G|4,BUFFER|p.A276D|c.827C>A|3,BUFFER|p.A276V|c.827C>T|7,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273L|c.818G>T|98,BUFFER|p.R273P|c.818G>C|4,BUFFER|p.R273H|c.818G>A|116,BUFFER|p.R273H|c.818G>A|64,BUFFER|p.R273H|c.818G>A|588,BUFFER|p.R273L|c.818G>T|5,BUFFER|p.R273H|c.818G>A|83,BUFFER|p.R273P|c.818G>C|29,BUFFER|p.R273L|c.818G>T|18,BUFFER|p.R273L|c.818G>T|12,BUFFER|p.R273S|c.817C>A|4,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273S|c.817C>A|15,BUFFER|p.R273C|c.817C>T|59,BUFFER|p.V272E|c.815T>A|9,BUFFER|p.V272G|c.815T>G|7,BUFFER|p.V272A|c.815T>C|7,BUFFER|p.V272fs*73|c.814delG|3,BUFFER|p.V272L|c.814G>T|24,BUFFER|p.V272L|c.814G>T|4,BUFFER|p.V272M|c.814G>A|11,BUFFER|p.V272M|c.814G>A|84,BUFFER|p.V272M|c.814G>A|6,BUFFER|p.V272M|c.814G>A|22,BUFFER|p.V272L|c.814G>C|4,BUFFER|p.E271V|c.812A>T|8,BUFFER|p.E271G|c.812A>G|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13803T>A,TP53_g.13803T>G,TP53_g.13803del,TP53_g.13803T>C,COSM43902,COSM45251,COSM11501,COSM2744532,COSM3378443,COSM2744533	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1	.	.	probably_damaging(0.991)	.	deleterious(0)	0,0,0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Cys275Arg,ENST00000420246,;TP53,missense_variant,p.Cys275Arg,ENST00000269305,;TP53,missense_variant,p.Cys143Arg,ENST00000509690,;TP53,missense_variant,p.Cys275Arg,ENST00000359597,;TP53,missense_variant,p.Cys275Arg,ENST00000445888,;TP53,missense_variant,p.Cys275Arg,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1013	72	69	SUCCESS
COL5A3	50509	.	GRCh37	19	10121026	10121026	+	synonymous_variant	Silent	SNP	G	G	C	rs1194331140	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	18	124	0	ENST00000264828.3:c.36C>G	p.Ala12=	p.A12=	ENST00000264828	NM_015719.3	12	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS12222.1	36	RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGGCCCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000264828	.	1/67	.	.	.	.	.	.	.	.	.	1/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,synonymous_variant,p.%3D,ENST00000264828,;RDH8,upstream_gene_variant,,ENST00000591589,;RDH8,upstream_gene_variant,,ENST00000171214,;	122	124	123	SUCCESS
ZNF432	9668	.	GRCh37	19	52537481	52537481	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	63	0	ENST00000221315.5:c.1451C>G	p.Pro484Arg	p.P484R	ENST00000221315	NM_014650.2	484	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12848.1	1451	RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAGGTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000470488	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000594154	Transcript	.	.	ENSG00000256087	20810	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN432_HUMAN	ZNF432	HGNC	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN	.	UPI0000139CDC	SNV	ZNF432,missense_variant,p.Pro484Arg,ENST00000221315,;ZNF432,missense_variant,p.Pro484Arg,ENST00000594154,;ZNF432,downstream_gene_variant,,ENST00000598745,;ZNF614,upstream_gene_variant,,ENST00000597952,;ZNF432,downstream_gene_variant,,ENST00000600368,;	1664	63	74	SUCCESS
NLRP7	199713	.	GRCh37	19	55435161	55435161	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	66	0	ENST00000340844.2:c.2890G>T	p.Asp964Tyr	p.D964Y	ENST00000340844	NM_206828.3	964	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS46183.1	3061	MUTECT|MUSE|VARSCANS	.	GCAATCAATAG	NONE	.	.	hmmpanther:PTHR24106:SF87,hmmpanther:PTHR24106	.	.	ENSP00000467123	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.896)	.	deleterious(0)	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,missense_variant,p.Asp964Tyr,ENST00000590030,;NLRP7,missense_variant,p.Asp1049Tyr,ENST00000446217,;NLRP7,missense_variant,p.Asp1021Tyr,ENST00000588756,;NLRP7,missense_variant,p.Asp993Tyr,ENST00000328092,;NLRP7,missense_variant,p.Asp993Tyr,ENST00000448121,;NLRP7,missense_variant,p.Asp1021Tyr,ENST00000592784,;NLRP7,missense_variant,p.Asp964Tyr,ENST00000340844,;NLRP7,3_prime_UTR_variant,,ENST00000586379,;	3548	66	54	SUCCESS
ACTL9	284382	.	GRCh37	19	8808811	8808811	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	73	0	ENST00000324436.3:c.241T>A	p.Cys81Ser	p.C81S	ENST00000324436	NM_178525.3	81	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12207.1	241	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCAGCCCA	NONE	.	.	Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194	.	.	ENSP00000316674	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000324436	Transcript	.	.	ENSG00000181786	28494	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated(0.41)	.	ACTL9_HUMAN	ACTL9	HGNC	.	.	UPI000014129E	SNV	ACTL9,missense_variant,p.Cys81Ser,ENST00000324436,;	362	73	75	SUCCESS
ZNF317	57693	.	GRCh37	19	9267979	9267979	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	99	0	ENST00000247956.6:c.198T>C	p.Phe66=	p.F66=	ENST00000247956	NM_020933.4	66	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS12210.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTTACCGA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF22,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000247956	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000247956	Transcript	.	.	ENSG00000130803	13507	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN317_HUMAN	ZNF317	HGNC	.	.	UPI0000366D00	SNV	ZNF317,synonymous_variant,p.%3D,ENST00000360385,;ZNF317,synonymous_variant,p.%3D,ENST00000247956,;ZNF317,upstream_gene_variant,,ENST00000591508,;ZNF317,synonymous_variant,p.%3D,ENST00000591278,;ZNF317,non_coding_transcript_exon_variant,,ENST00000419608,;ZNF317,non_coding_transcript_exon_variant,,ENST00000590152,;	503	99	95	SUCCESS
ASH1L	55870	.	GRCh37	1	155449069	155449069	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	30	98	0	ENST00000368346.3:c.3592C>A	p.Pro1198Thr	p.P1198T	ENST00000368346		1198	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS1113.2	3592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGGAATGG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,missense_variant,p.Pro1198Thr,ENST00000368346,;ASH1L,missense_variant,p.Pro1198Thr,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000548830,;	4071	98	134	SUCCESS
SPTA1	6708	.	GRCh37	1	158646003	158646003	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	37	62	0	ENST00000368147.4:c.1040A>G	p.Asp347Gly	p.D347G	ENST00000368147	NM_003126.2	347	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS41423.1	1040	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATCTTCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0.01)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Asp347Gly,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000467387,;	1221	62	123	SUCCESS
C1orf112	55732	.	GRCh37	1	169775144	169775144	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	35	0	ENST00000286031.6:c.479-1G>C		p.X160_splice	ENST00000286031	NM_018186.2	160		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGTTATT	NONE	.	.	.	.	.	ENSP00000286031	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286031	Transcript	.	.	ENSG00000000460	25565	.	.	HIGH	6/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA112_HUMAN	C1orf112	HGNC	.	.	UPI000006E467	SNV	C1orf112,splice_acceptor_variant,,ENST00000286031,;C1orf112,splice_acceptor_variant,,ENST00000456684,;C1orf112,splice_acceptor_variant,,ENST00000359326,;C1orf112,splice_acceptor_variant,,ENST00000413811,;C1orf112,splice_acceptor_variant,,ENST00000459772,;C1orf112,splice_acceptor_variant,,ENST00000466580,;C1orf112,splice_acceptor_variant,,ENST00000481744,;C1orf112,splice_acceptor_variant,,ENST00000498289,;C1orf112,downstream_gene_variant,,ENST00000496973,;C1orf112,downstream_gene_variant,,ENST00000472795,;	.	35	51	SUCCESS
ACBD6	84320	.	GRCh37	1	180471265	180471265	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	48	196	0	ENST00000367595.3:c.137T>G	p.Phe46Cys	p.F46C	ENST00000367595	NM_032360.3	46	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS1339.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAAACAGC	NONE	.	.	Prints_domain:PR00689,Superfamily_domains:SSF47027,Pfam_domain:PF00887,Gene3D:1.20.80.10,hmmpanther:PTHR24119,hmmpanther:PTHR24119:SF0,PROSITE_profiles:PS51228	.	.	ENSP00000356567	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000367595	Transcript	.	.	ENSG00000135847	23339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACBD6_HUMAN	ACBD6	HGNC	.	.	UPI0000039B39	SNV	ACBD6,missense_variant,p.Phe46Cys,ENST00000367595,;	825	196	199	SUCCESS
RGS1	5996	.	GRCh37	1	192545036	192545036	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1355381710	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	6	106	0	ENST00000367459.3:c.114G>A	p.Met38Ile	p.M38I	ENST00000367459	NM_002922.3	38	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1375.2	114	MUTECT|MUSE	.	AAAATGCAAAA	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF34	.	.	ENSP00000356429	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000367459	Transcript	.	.	ENSG00000090104	9991	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.31)	.	RGS1_HUMAN	RGS1	HGNC	.	.	UPI0000169CF2	SNV	RGS1,missense_variant,p.Met38Ile,ENST00000469578,;RGS1,missense_variant,p.Met38Ile,ENST00000367459,;RGS1,non_coding_transcript_exon_variant,,ENST00000583155,;RGS1,non_coding_transcript_exon_variant,,ENST00000498352,;RGS1,non_coding_transcript_exon_variant,,ENST00000462589,;RGS1,non_coding_transcript_exon_variant,,ENST00000474373,;	180	106	124	SUCCESS
NEK2	4751	.	GRCh37	1	211842562	211842562	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	49	0	ENST00000366999.4:c.878C>G	p.Pro293Arg	p.P293R	ENST00000366999	NM_002497.3	293	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS1500.1	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGGCTCT	BUFFER|p.S296L|c.887C>T|4,BUFFER|p.S296L|c.887C>T|4	.	.	hmmpanther:PTHR24362	.	.	ENSP00000355966	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000366999	Transcript	.	.	ENSG00000117650	7745	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.24)	.	NEK2_HUMAN	NEK2	HGNC	B4DZU0_HUMAN	.	UPI000012FF27	SNV	NEK2,missense_variant,p.Pro293Arg,ENST00000366999,;NEK2,missense_variant,p.Pro293Arg,ENST00000366998,;NEK2,missense_variant,p.Pro250Arg,ENST00000540251,;NEK2,non_coding_transcript_exon_variant,,ENST00000489633,;NEK2,non_coding_transcript_exon_variant,,ENST00000462283,;	1017	49	49	SUCCESS
ADCK3	0	.	GRCh37	1	227174396	227174396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	841	90	791	1	ENST00000366777.3:c.1902G>T	p.Glu634Asp	p.E634D	ENST00000366777	NM_020247.4	634	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS1557.1	1902	MUTECT|MUSE|VARSCANS	.	TTCGAGGAGGC	NONE	.	.	hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF21	.	.	ENSP00000355741	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000366779	Transcript	.	.	ENSG00000163050	16812	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.34)	.	ADCK3_HUMAN	ADCK3	HGNC	Q5T7A2_HUMAN,A1L377_HUMAN	.	UPI0000126D6B	SNV	ADCK3,missense_variant,p.Glu308Asp,ENST00000433743,;ADCK3,missense_variant,p.Glu634Asp,ENST00000366779,;ADCK3,missense_variant,p.Glu355Asp,ENST00000458507,;ADCK3,missense_variant,p.Glu582Asp,ENST00000366778,;ADCK3,missense_variant,p.Glu634Asp,ENST00000366777,;CDC42BPA,downstream_gene_variant,,ENST00000366767,;CDC42BPA,downstream_gene_variant,,ENST00000366769,;CDC42BPA,downstream_gene_variant,,ENST00000366764,;CDC42BPA,downstream_gene_variant,,ENST00000334218,;CDC42BPA,downstream_gene_variant,,ENST00000448940,;CDC42BPA,downstream_gene_variant,,ENST00000366766,;ADCK3,non_coding_transcript_exon_variant,,ENST00000479852,;ADCK3,non_coding_transcript_exon_variant,,ENST00000478406,;ADCK3,non_coding_transcript_exon_variant,,ENST00000485462,;ADCK3,intron_variant,,ENST00000464693,;	4673	792	932	SUCCESS
GUK1	2987	.	GRCh37	1	228328057	228328057	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	79	0	ENST00000312726.4:c.-175del		p.*59*	ENST00000312726	NM_000858.5	18		0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS55689.1	54	VARSCANI*|PINDEL	.	GGCCCCACCGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23117,hmmpanther:PTHR23117:SF13	.	.	ENSP00000355689	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000366728	Transcript	.	.	ENSG00000143774	4693	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KGUA_HUMAN	GUK1	HGNC	.	.	UPI000046FFA0	deletion	GUK1,frameshift_variant,p.Pro19ArgfsTer12,ENST00000391865,;GUK1,frameshift_variant,p.Pro19ArgfsTer12,ENST00000453943,;GUK1,frameshift_variant,p.Pro19ArgfsTer12,ENST00000366728,;GUK1,frameshift_variant,p.Pro19ArgfsTer12,ENST00000366723,;GUK1,5_prime_UTR_variant,,ENST00000366722,;GUK1,5_prime_UTR_variant,,ENST00000366726,;GUK1,5_prime_UTR_variant,,ENST00000435153,;GUK1,5_prime_UTR_variant,,ENST00000312726,;GUK1,5_prime_UTR_variant,,ENST00000366721,;GUK1,intron_variant,,ENST00000366730,;GUK1,upstream_gene_variant,,ENST00000366718,;GUK1,upstream_gene_variant,,ENST00000412265,;GUK1,non_coding_transcript_exon_variant,,ENST00000485838,;GUK1,non_coding_transcript_exon_variant,,ENST00000498092,;GUK1,non_coding_transcript_exon_variant,,ENST00000469973,;GUK1,non_coding_transcript_exon_variant,,ENST00000462807,;GUK1,non_coding_transcript_exon_variant,,ENST00000485083,;GUK1,non_coding_transcript_exon_variant,,ENST00000493209,;GUK1,non_coding_transcript_exon_variant,,ENST00000492871,;GUK1,non_coding_transcript_exon_variant,,ENST00000493138,;GUK1,upstream_gene_variant,,ENST00000491613,;GUK1,upstream_gene_variant,,ENST00000472939,;GUK1,upstream_gene_variant,,ENST00000460224,;GUK1,upstream_gene_variant,,ENST00000485733,;GUK1,upstream_gene_variant,,ENST00000470040,;GUK1,upstream_gene_variant,,ENST00000484953,;	67	79	77	SUCCESS
COX20	116228	.	GRCh37	1	244999029	244999029	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	49	0	ENST00000411948.2:c.13C>G	p.Pro5Ala	p.P5A	ENST00000411948	NM_198076.4	5	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS31080.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31586,hmmpanther:PTHR31586:SF1	.	.	ENSP00000406327	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000411948	Transcript	.	.	ENSG00000203667	26970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.27)	.	COX20_HUMAN	COX20	HGNC	B3KM21_HUMAN	.	UPI000006D3AA	SNV	COX20,missense_variant,p.Pro5Ala,ENST00000366528,;COX20,missense_variant,p.Pro5Ala,ENST00000411948,;COX20,non_coding_transcript_exon_variant,,ENST00000498262,;COX20,non_coding_transcript_exon_variant,,ENST00000391839,;COX20,upstream_gene_variant,,ENST00000464757,;HNRNPU-AS1,downstream_gene_variant,,ENST00000366527,;	406	49	69	SUCCESS
HIVEP3	59269	.	GRCh37	1	42047687	42047687	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	9	127	0	ENST00000247584.5:c.2782C>A	p.Leu928Met	p.L928M	ENST00000247584		928	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS463.1	2782	MUTECT|MUSE	.	AGACAGAGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,missense_variant,p.Leu928Met,ENST00000429157,;HIVEP3,missense_variant,p.Leu928Met,ENST00000372584,;HIVEP3,missense_variant,p.Leu928Met,ENST00000247584,;HIVEP3,missense_variant,p.Leu928Met,ENST00000372583,;HIVEP3,upstream_gene_variant,,ENST00000460604,;	3668	127	121	SUCCESS
SLC44A3	126969	.	GRCh37	1	95307574	95307574	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	6	75	0	ENST00000271227.6:c.779G>C	p.Trp260Ser	p.W260S	ENST00000271227	NM_001258340.1	260	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS44176.1	779	MUTECT|MUSE	.	TTTATGGTGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13	.	.	ENSP00000271227	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000271227	Transcript	.	.	ENSG00000143036	28689	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CTL3_HUMAN	SLC44A3	HGNC	F8W7F3_HUMAN	.	UPI0000206066	SNV	SLC44A3,missense_variant,p.Trp224Ser,ENST00000446120,;SLC44A3,missense_variant,p.Trp260Ser,ENST00000271227,;SLC44A3,missense_variant,p.Trp228Ser,ENST00000529450,;SLC44A3,missense_variant,p.Trp212Ser,ENST00000467909,;SLC44A3,missense_variant,p.Trp180Ser,ENST00000532427,;SLC44A3,missense_variant,p.Trp192Ser,ENST00000527077,;SLC44A3,downstream_gene_variant,,ENST00000422520,;RP11-465K1.2,intron_variant,,ENST00000422162,;SLC44A3,non_coding_transcript_exon_variant,,ENST00000530397,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;RP11-465K1.2,downstream_gene_variant,,ENST00000532087,;	881	75	95	SUCCESS
NDUFAF5	79133	.	GRCh37	20	13797788	13797788	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142611230	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	17	136	0	ENST00000378106.5:c.970G>A	p.Ala324Thr	p.A324T	ENST00000378106	NM_024120.4	324	Gca/Aca	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS13118.1	970	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGCAACT	NONE	byCluster	.	hmmpanther:PTHR13090	.	A:0.0001	ENSP00000367346	.	11/11	.	.	.	.	.	.	.	.	rs142611230,COSM266135	11/11	PASS	ENST00000378106	Transcript	1	.	ENSG00000101247	15899	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.995)	.	deleterious(0.03)	0,1	NDUF5_HUMAN	NDUFAF5	HGNC	.	.	UPI0000231C9F	SNV	NDUFAF5,missense_variant,p.Ala296Thr,ENST00000463598,;NDUFAF5,missense_variant,p.Ala324Thr,ENST00000378106,;NDUFAF5,non_coding_transcript_exon_variant,,ENST00000479682,;NDUFAF5,non_coding_transcript_exon_variant,,ENST00000487478,;NDUFAF5,non_coding_transcript_exon_variant,,ENST00000486772,;NDUFAF5,non_coding_transcript_exon_variant,,ENST00000476200,;NDUFAF5,non_coding_transcript_exon_variant,,ENST00000475968,;NDUFAF5,non_coding_transcript_exon_variant,,ENST00000479716,;NDUFAF5,downstream_gene_variant,,ENST00000481249,;NDUFAF5,downstream_gene_variant,,ENST00000476536,;NDUFAF5,3_prime_UTR_variant,,ENST00000378081,;	1089	136	151	SUCCESS
ABHD12	26090	.	GRCh37	20	25371383	25371383	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs373200654	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	13	19	0	ENST00000339157.5:c.-44C>G		p.*15*	ENST00000339157	NM_001042472.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13172.1	.	RADIA|MUTECT	.	GGCCTGCGCCG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000365725	.	1/13	.	.	.	.	.	.	.	.	rs373200654	1/13	common_in_exac	ENST00000376542	Transcript	1	.	ENSG00000100997	15868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,5_prime_UTR_variant,,ENST00000339157,;ABHD12,5_prime_UTR_variant,,ENST00000376542,;ABHD12,upstream_gene_variant,,ENST00000471287,;ABHD12,5_prime_UTR_variant,,ENST00000461204,;	237	19	19	SUCCESS
HRH3	11255	.	GRCh37	20	60791400	60791400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	11	85	0	ENST00000340177.5:c.1000G>A	p.Glu334Lys	p.E334K	ENST00000340177	NM_007232.2	334	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13493.1	1000	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCAGCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF242,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01471	.	.	ENSP00000342560	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000340177	Transcript	.	.	ENSG00000101180	5184	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.484)	.	tolerated(0.45)	.	HRH3_HUMAN	HRH3	HGNC	.	.	UPI000012C6ED	SNV	HRH3,missense_variant,p.Glu334Lys,ENST00000317393,;HRH3,missense_variant,p.Glu334Lys,ENST00000340177,;	1285	85	81	SUCCESS
PKDREJ	10343	.	GRCh37	22	46656291	46656291	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	5	117	0	ENST00000253255.5:c.2929T>C	p.Ser977Pro	p.S977P	ENST00000253255	NM_006071.1	977	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS14073.1	2929	MUTECT|MUSE	.	CAAGGACCCAT	NONE	.	.	hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877	.	.	ENSP00000253255	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000253255	Transcript	.	.	ENSG00000130943	9015	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.01)	.	tolerated(0.22)	.	PKDRE_HUMAN	PKDREJ	HGNC	A6MW40_HUMAN	.	UPI0000031D01	SNV	PKDREJ,missense_variant,p.Ser977Pro,ENST00000253255,;	2929	117	121	SUCCESS
SNTG2	54221	.	GRCh37	2	1271232	1271232	+	synonymous_variant	Silent	SNP	C	C	A	rs370848778	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	18	140	0	ENST00000308624.5:c.1173C>A	p.Ile391=	p.I391=	ENST00000308624	NM_018968.3	391	atC/atA	0	T:0	.	.	.	.	A	I	protein_coding	YES	CCDS46220.1	1173	RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCGTGGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	T:0.0002	ENSP00000311837	.	14/17	.	.	.	.	.	.	.	.	rs370848778	14/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,synonymous_variant,p.%3D,ENST00000308624,;SNTG2,synonymous_variant,p.%3D,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;	1302	141	151	SUCCESS
UGGT1	56886	.	GRCh37	2	128877939	128877939	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	87	0	ENST00000259253.6:c.882C>T	p.His294=	p.H294=	ENST00000259253	NM_020120.3	294	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS2154.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACCCCGA	NONE	.	.	hmmpanther:PTHR11226:SF3,hmmpanther:PTHR11226	.	.	ENSP00000259253	.	9/41	.	.	.	.	.	.	.	.	.	9/41	PASS	ENST00000259253	Transcript	.	.	ENSG00000136731	15663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UGGG1_HUMAN	UGGT1	HGNC	.	.	UPI00000707D8	SNV	UGGT1,synonymous_variant,p.%3D,ENST00000259253,;UGGT1,synonymous_variant,p.%3D,ENST00000375990,;RN7SL206P,upstream_gene_variant,,ENST00000580933,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;UGGT1,3_prime_UTR_variant,,ENST00000438277,;	929	87	92	SUCCESS
LYPD6	130574	.	GRCh37	2	150294172	150294172	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	34	0	ENST00000334166.4:c.-51C>T		p.*17*	ENST00000334166	NM_194317.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2188.1	.	MUTECT|MUSE	.	TGTTGCCCTGA	NONE	.	.	.	.	.	ENSP00000334463	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000334166	Transcript	.	.	ENSG00000187123	28751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYPD6_HUMAN	LYPD6	HGNC	C9IYE7_HUMAN	.	UPI000000DB99	SNV	LYPD6,5_prime_UTR_variant,,ENST00000414420,;LYPD6,5_prime_UTR_variant,,ENST00000409381,;LYPD6,5_prime_UTR_variant,,ENST00000334166,;LYPD6,5_prime_UTR_variant,,ENST00000392854,;LYPD6,5_prime_UTR_variant,,ENST00000418762,;AC007394.3,upstream_gene_variant,,ENST00000421941,;	207	34	28	SUCCESS
GALNT3	2591	.	GRCh37	2	166626814	166626814	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs763127846	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	211	27	228	1	ENST00000392701.3:c.397T>G	p.Leu133Val	p.L133V	ENST00000392701	NM_004482.3	133	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS2226.1	397	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTAAATTGG	NONE	.	.	hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675	.	.	ENSP00000376465	.	2/11	.	.	.	.	.	.	.	.	rs763127846	2/11	PASS	ENST00000392701	Transcript	.	.	ENSG00000115339	4125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.06)	.	GALT3_HUMAN	GALNT3	HGNC	C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN	.	UPI000013C989	SNV	GALNT3,missense_variant,p.Leu133Val,ENST00000412248,;GALNT3,missense_variant,p.Leu133Val,ENST00000392701,;GALNT3,downstream_gene_variant,,ENST00000414977,;GALNT3,downstream_gene_variant,,ENST00000431484,;GALNT3,downstream_gene_variant,,ENST00000447156,;GALNT3,downstream_gene_variant,,ENST00000422973,;	1173	229	238	SUCCESS
RBM44	375316	.	GRCh37	2	238726871	238726871	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	13	149	0	ENST00000316997.4:c.1312A>G	p.Thr438Ala	p.T438A	ENST00000316997	NM_001080504.2	438	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46554.1	1312	MUTECT|MUSE	.	GCAGTACCACA	NONE	.	.	.	.	.	ENSP00000321179	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000316997	Transcript	.	.	ENSG00000177483	24756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	tolerated(0.49)	.	RBM44_HUMAN	RBM44	HGNC	.	.	UPI000179A941	SNV	RBM44,missense_variant,p.Thr438Ala,ENST00000409864,;RBM44,missense_variant,p.Thr438Ala,ENST00000316997,;RBM44,intron_variant,,ENST00000444524,;LRRFIP1,downstream_gene_variant,,ENST00000489603,;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,;	1444	149	174	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656037	40656037	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	4	69	0	ENST00000332839.4:c.1384G>A	p.Gly462Arg	p.G462R	ENST00000332839	NM_021097.2	462	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1806.1	1384	MUTECT|MUSE	.	AGTTCCTTCAG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	COSM138294	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	SNV	SLC8A1,missense_variant,p.Gly462Arg,ENST00000408028,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000406785,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000542024,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000403092,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000405269,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000332839,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000542756,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000406391,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000405901,;SLC8A1,missense_variant,p.Gly462Arg,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,missense_variant,p.Gly459Arg,ENST00000407929,;	1418	69	53	SUCCESS
VRK2	7444	.	GRCh37	2	58276008	58276008	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	18	174	0	ENST00000340157.4:c.42A>G	p.Pro14=	p.P14=	ENST00000340157	NM_001130481.2	14	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1859.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCATTTCC	NONE	.	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100,Gene3D:3.30.200.20	.	.	ENSP00000408002	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000435505	Transcript	.	.	ENSG00000028116	12719	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VRK2_HUMAN	VRK2	HGNC	.	.	UPI000013D498	SNV	VRK2,synonymous_variant,p.%3D,ENST00000428021,;VRK2,synonymous_variant,p.%3D,ENST00000340157,;VRK2,synonymous_variant,p.%3D,ENST00000417641,;VRK2,synonymous_variant,p.%3D,ENST00000412104,;VRK2,synonymous_variant,p.%3D,ENST00000435505,;VRK2,splice_region_variant,,ENST00000440705,;VRK2,synonymous_variant,p.%3D,ENST00000432057,;	787	174	168	SUCCESS
MGLL	11343	.	GRCh37	3	127441291	127441291	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1224590652	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	83	0	ENST00000398104.1:c.351C>G	p.Phe117Leu	p.F117L	ENST00000398104	NM_001003794.2	117	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS46902.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGAAGAC	NONE	.	.	Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87	.	.	ENSP00000265052	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.06)	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,missense_variant,p.Phe127Leu,ENST00000265052,;MGLL,missense_variant,p.Phe127Leu,ENST00000453507,;MGLL,missense_variant,p.Phe54Leu,ENST00000493611,;MGLL,missense_variant,p.Phe117Leu,ENST00000398104,;MGLL,missense_variant,p.Phe41Leu,ENST00000484451,;MGLL,missense_variant,p.Phe41Leu,ENST00000487473,;MGLL,missense_variant,p.Phe91Leu,ENST00000398101,;MGLL,missense_variant,p.Phe117Leu,ENST00000434178,;MGLL,upstream_gene_variant,,ENST00000496306,;MGLL,non_coding_transcript_exon_variant,,ENST00000465597,;MGLL,non_coding_transcript_exon_variant,,ENST00000479967,;MGLL,downstream_gene_variant,,ENST00000476654,;	921	83	78	SUCCESS
XRN1	54464	.	GRCh37	3	142030413	142030413	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	21	134	0	ENST00000264951.4:c.5061T>A	p.Ser1687=	p.S1687=	ENST00000264951	NM_019001.3	1687	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3123.1	5061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAAGAAGA	NONE	.	.	.	.	.	ENSP00000264951	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	SNV	XRN1,synonymous_variant,p.%3D,ENST00000498077,;XRN1,synonymous_variant,p.%3D,ENST00000392981,;XRN1,synonymous_variant,p.%3D,ENST00000264951,;	5179	134	135	SUCCESS
SCN10A	6336	.	GRCh37	3	38805061	38805061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779184623	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	52	0	ENST00000449082.2:c.626G>A	p.Arg209His	p.R209H	ENST00000449082	NM_006514.2	209	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS33736.1	626	MUTECT|MUSE	.	TCCCACGGAGA	NONE	byFrequency	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000390600	.	5/27	.	.	.	.	.	.	.	.	rs779184623,COSM1240131	5/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.751)	.	deleterious(0)	0,1	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Arg209His,ENST00000449082,;	626	52	40	SUCCESS
CACNA2D2	9254	.	GRCh37	3	50416567	50416567	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	52	0	ENST00000479441.1:c.1216C>A	p.Arg406Ser	p.R406S	ENST00000479441		406	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS54588.1	1216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCGGTCCT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000418081	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000479441	Transcript	.	.	ENSG00000007402	1400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CA2D2_HUMAN	CACNA2D2	HGNC	.	.	UPI0000E5A6AF	SNV	CACNA2D2,missense_variant,p.Arg337Ser,ENST00000360963,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000435965,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000266039,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000429770,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000424201,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000423994,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000479441,;CACNA2D2,missense_variant,p.Arg406Ser,ENST00000395083,;	1216	52	52	SUCCESS
CACNA1D	776	.	GRCh37	3	53834294	53834294	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	85	0	ENST00000350061.5:c.4942C>T	p.His1648Tyr	p.H1648Y	ENST00000350061	NM_001128840.2	1648	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS2872.1	5002	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCATGAC	NONE	.	.	hmmpanther:PTHR10037:SF139,hmmpanther:PTHR10037	.	.	ENSP00000288139	.	42/49	.	.	.	.	.	.	.	.	.	42/49	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,missense_variant,p.His1668Tyr,ENST00000288139,;CACNA1D,missense_variant,p.His1633Tyr,ENST00000422281,;CACNA1D,missense_variant,p.His1648Tyr,ENST00000350061,;CACNA1D,missense_variant,p.His27Tyr,ENST00000544977,;CACNA1D,missense_variant,p.His1341Tyr,ENST00000481478,;RP11-884K10.6,upstream_gene_variant,,ENST00000607740,;	5120	85	81	SUCCESS
FAM107A	11170	.	GRCh37	3	58552443	58552443	+	intron_variant	Intron	SNP	G	G	C	rs373278871	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	34	0	ENST00000360997.2:c.328-21C>G		p.*110*	ENST00000360997	NM_001076778.1			0	C:0	.	.	.	.	C	.	protein_coding	YES	CCDS2892.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAGTGA	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000377991	.	.	.	.	.	.	.	.	.	.	rs373278871	.	PASS	ENST00000394481	Transcript	.	.	ENSG00000168309	30827	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F107A_HUMAN	FAM107A	HGNC	Q6IAM1_HUMAN,C9JAU5_HUMAN	.	UPI000012989D	SNV	FAM107A,3_prime_UTR_variant,,ENST00000464064,;FAM107A,intron_variant,,ENST00000447756,;FAM107A,intron_variant,,ENST00000474531,;FAM107A,intron_variant,,ENST00000360997,;FAM107A,intron_variant,,ENST00000394481,;FAM107A,downstream_gene_variant,,ENST00000465970,;	.	34	26	SUCCESS
FOXP1	27086	.	GRCh37	3	71008538	71008538	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	60	0	ENST00000318789.4:c.1894C>A	p.Pro632Thr	p.P632T	ENST00000318789	NM_032682.5	632	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS58837.1	1900	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGGATGCC	NONE	.	.	hmmpanther:PTHR11829:SF147,hmmpanther:PTHR11829	.	.	ENSP00000420736	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000491238	Transcript	.	.	ENSG00000114861	3823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.022)	.	tolerated(0.24)	.	.	FOXP1	HGNC	Q8IXF4_HUMAN,E9PFD3_HUMAN,C9J5T4_HUMAN,C9IYY1_HUMAN,B4DMV4_HUMAN	.	UPI00002099BD	SNV	FOXP1,missense_variant,p.Pro634Thr,ENST00000491238,;FOXP1,missense_variant,p.Pro632Thr,ENST00000498215,;FOXP1,missense_variant,p.Pro632Thr,ENST00000318789,;FOXP1,missense_variant,p.Pro632Thr,ENST00000475937,;FOXP1,missense_variant,p.Pro528Thr,ENST00000497355,;FOXP1,missense_variant,p.Pro568Thr,ENST00000468577,;FOXP1,missense_variant,p.Pro556Thr,ENST00000484350,;FOXP1,missense_variant,p.Pro631Thr,ENST00000493089,;FOXP1,non_coding_transcript_exon_variant,,ENST00000460805,;FOXP1,3_prime_UTR_variant,,ENST00000327590,;	2054	60	69	SUCCESS
KCTD8	386617	.	GRCh37	4	44449696	44449696	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	86	0	ENST00000360029.3:c.845G>T	p.Arg282Leu	p.R282L	ENST00000360029	NM_198353.2	282	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS3467.1	845	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCGATCA	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	1/2	.	.	.	.	.	.	.	.	COSM1055616	1/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.987)	.	deleterious(0.04)	1	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,missense_variant,p.Arg282Leu,ENST00000360029,;KCTD8,upstream_gene_variant,,ENST00000515268,;AC131951.1,upstream_gene_variant,,ENST00000584757,;	1129	87	62	SUCCESS
FAM47E	100129583	.	GRCh37	4	77204597	77204597	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs200969259	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	7	70	1	ENST00000424749.2:c.1168C>T	p.Arg390Ter	p.R390*	ENST00000424749	NM_001136570.2	390	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS47081.1	1168	RADIA|MUTECT|VARSCANS	.	TAAAACGAACT	NONE	byCluster	.	.	.	.	ENSP00000409423	.	8/8	.	.	.	.	.	.	.	.	rs200969259	8/8	PASS	ENST00000424749	Transcript	.	.	ENSG00000189157	34343	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA47E_HUMAN	FAM47E	HGNC	.	.	UPI0000D4C4F5	SNV	FAM47E,stop_gained,p.Arg292Ter,ENST00000510197,;FAM47E,stop_gained,p.Arg292Ter,ENST00000339906,;FAM47E,stop_gained,p.Arg390Ter,ENST00000424749,;FAM47E-STBD1,intron_variant,,ENST00000514140,;FAM47E-STBD1,intron_variant,,ENST00000539752,;FAM47E-STBD1,intron_variant,,ENST00000515604,;FAM47E,non_coding_transcript_exon_variant,,ENST00000511946,;FAM47E,non_coding_transcript_exon_variant,,ENST00000502320,;FAM47E-STBD1,intron_variant,,ENST00000514365,;FAM47E-STBD1,intron_variant,,ENST00000509377,;FAM47E,downstream_gene_variant,,ENST00000510328,;	1174	71	73	SUCCESS
PCDHA5	56143	.	GRCh37	5	140203606	140203606	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	14	140	0	ENST00000529859.1:c.2246A>G	p.Tyr749Cys	p.Y749C	ENST00000529859	NM_018908.2	749	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS54917.1	2246	MUTECT|MUSE|VARSCANS	.	GTCGTACTCGC	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111	.	.	ENSP00000436557	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529859	Transcript	.	.	ENSG00000204965	8671	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.061)	.	tolerated_low_confidence(0.05)	.	PCDA5_HUMAN	PCDHA5	HGNC	.	.	UPI00001273CD	SNV	PCDHA5,missense_variant,p.Tyr749Cys,ENST00000529619,;PCDHA5,missense_variant,p.Tyr749Cys,ENST00000378126,;PCDHA5,missense_variant,p.Tyr749Cys,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000527624,;PCDHA6,upstream_gene_variant,,ENST00000529310,;	2246	140	153	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215307	140215307	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782412740	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	11	162	0	ENST00000525929.1:c.1339G>A	p.Asp447Asn	p.D447N	ENST00000525929	NM_018910.2	447	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54918.1	1339	MUTECT|MUSE|VARSCANS	.	TGGCCGACGTG	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	rs782412740	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.972)	.	deleterious_low_confidence(0.01)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Asp447Asn,ENST00000378125,;PCDHA7,missense_variant,p.Asp447Asn,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1339	162	144	SUCCESS
CCDC125	202243	.	GRCh37	5	68609823	68609823	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	86	0	ENST00000396496.2:c.355G>C	p.Glu119Gln	p.E119Q	ENST00000396496		119	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS4000.1	355	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCATTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000379754	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000396496	Transcript	.	.	ENSG00000183323	28924	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	deleterious(0.05)	.	CC125_HUMAN	CCDC125	HGNC	.	.	UPI00004572F8	SNV	CCDC125,missense_variant,p.Glu119Gln,ENST00000396499,;CCDC125,missense_variant,p.Glu118Gln,ENST00000383374,;CCDC125,missense_variant,p.Glu119Gln,ENST00000396496,;CCDC125,5_prime_UTR_variant,,ENST00000511257,;CCDC125,non_coding_transcript_exon_variant,,ENST00000513172,;CCDC125,intron_variant,,ENST00000460090,;CCDC125,intron_variant,,ENST00000512045,;CFL1P5,upstream_gene_variant,,ENST00000508046,;	463	86	71	SUCCESS
HIST1H1A	0	.	GRCh37	6	26017773	26017773	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	96	0	ENST00000244573.3:c.188C>T	p.Ala63Val	p.A63V	ENST00000244573	NM_005325.3	63	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4569.1	188	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGCCAAC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF25,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000244573	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244573	Transcript	.	.	ENSG00000124610	4715	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	tolerated(0.11)	.	H11_HUMAN	HIST1H1A	HGNC	.	.	UPI0000001BD8	SNV	HIST1H1A,missense_variant,p.Ala63Val,ENST00000244573,;HIST1H4A,upstream_gene_variant,,ENST00000359907,;HIST1H3A,upstream_gene_variant,,ENST00000357647,;U91328.22,downstream_gene_variant,,ENST00000608919,;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;	268	96	79	SUCCESS
HIST1H2AG	0	.	GRCh37	6	27101160	27101160	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751969992	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	17	174	1	ENST00000359193.2:c.310G>A	p.Ala104Thr	p.A104T	ENST00000359193	NM_021064.4	104	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4619.1	310	RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGCACAG	NONE	.	.	hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000352119	.	1/1	.	.	.	.	.	.	.	.	rs751969992,COSM1076875	1/1	PASS	ENST00000359193	Transcript	.	.	ENSG00000196787	4737	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.589)	.	deleterious_low_confidence(0.02)	0,1	H2A1_HUMAN	HIST1H2AG	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AG,missense_variant,p.Ala104Thr,ENST00000359193,;HIST1H2BJ,upstream_gene_variant,,ENST00000541790,;HIST1H2BJ,upstream_gene_variant,,ENST00000339812,;HIST1H2BJ,upstream_gene_variant,,ENST00000607124,;HIST1H2BK,downstream_gene_variant,,ENST00000396891,;HIST1H2BJ,upstream_gene_variant,,ENST00000606923,;	329	175	132	SUCCESS
CDC5L	988	.	GRCh37	6	44394452	44394452	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	9	90	0	ENST00000371477.3:c.1884G>C	p.Glu628Asp	p.E628D	ENST00000371477	NM_001253.3	628	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS4912.1	1884	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGCTGAA	NONE	.	.	hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF17,Pfam_domain:PF11831	.	.	ENSP00000360532	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000371477	Transcript	.	.	ENSG00000096401	1743	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.63)	.	CDC5L_HUMAN	CDC5L	HGNC	.	.	UPI000006EE42	SNV	CDC5L,missense_variant,p.Glu628Asp,ENST00000371477,;	2183	90	94	SUCCESS
DST	667	.	GRCh37	6	56504503	56504503	+	synonymous_variant	Silent	SNP	T	T	C	rs181855017	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	23	145	2	ENST00000244364.6:c.1077A>G	p.Ala359=	p.A359=	ENST00000244364	NM_015548.4	359	gcA/gcG	0	.	C:0	.	C:0.0014	.	C	A	protein_coding	YES	CCDS47443.1	1077	RADIA|VARSCANS	.	AGTTTTGCATA	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	C:0	.	ENSP00000244364	C:0	6/84	.	.	.	.	.	.	.	.	rs181855017	6/84	PASS	ENST00000244364	Transcript	.	C:0.0002	ENSG00000151914	1090	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,synonymous_variant,p.%3D,ENST00000439203,;DST,synonymous_variant,p.%3D,ENST00000370754,;DST,synonymous_variant,p.%3D,ENST00000370769,;DST,synonymous_variant,p.%3D,ENST00000312431,;DST,synonymous_variant,p.%3D,ENST00000421834,;DST,synonymous_variant,p.%3D,ENST00000446842,;DST,synonymous_variant,p.%3D,ENST00000244364,;DST,synonymous_variant,p.%3D,ENST00000370788,;DST,synonymous_variant,p.%3D,ENST00000520645,;DST,synonymous_variant,p.%3D,ENST00000361203,;DST,synonymous_variant,p.%3D,ENST00000370765,;DST,synonymous_variant,p.%3D,ENST00000518935,;DST,downstream_gene_variant,,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;	1285	147	172	SUCCESS
COL9A1	1297	.	GRCh37	6	70964854	70964854	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs141895443	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	108	0	ENST00000357250.6:c.1610C>T	p.Thr537Met	p.T537M	ENST00000357250	NM_001851.4	537	aCg/aTg	0	A:0.0002	.	.	.	.	A	T/M	protein_coding	YES	CCDS4971.1	1610	RADIA|MUTECT|MUSE|VARSCANS	.	ATACCGTGTCT	NONE	byCluster	.	hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023	.	A:0.0001	ENSP00000349790	.	23/38	.	.	.	.	.	.	.	.	rs141895443	23/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.054)	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Thr294Met,ENST00000370499,;COL9A1,missense_variant,p.Thr294Met,ENST00000320755,;COL9A1,missense_variant,p.Thr537Met,ENST00000357250,;COL9A1,splice_region_variant,,ENST00000360859,;COL9A1,splice_region_variant,,ENST00000489611,;COL9A1,upstream_gene_variant,,ENST00000447041,;COL9A1,splice_region_variant,,ENST00000493682,;COL9A1,upstream_gene_variant,,ENST00000489861,;	1769	108	108	SUCCESS
CPA5	93979	.	GRCh37	7	130007818	130007818	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	72	0	ENST00000393213.3:c.1110C>T	p.Ile370=	p.I370=	ENST00000393213		370	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS5819.1	1110	RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCAGCAC	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF16,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000420237	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000485477	Transcript	.	.	ENSG00000158525	15722	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CBPA5_HUMAN	CPA5	HGNC	A4D1M2_HUMAN,C9JZE9_HUMAN,C9JRV5_HUMAN	.	UPI000000D837	SNV	CPA5,synonymous_variant,p.%3D,ENST00000466363,;CPA5,synonymous_variant,p.%3D,ENST00000461828,;CPA5,synonymous_variant,p.%3D,ENST00000474905,;CPA5,synonymous_variant,p.%3D,ENST00000393213,;CPA5,synonymous_variant,p.%3D,ENST00000355388,;CPA5,synonymous_variant,p.%3D,ENST00000485477,;CPA5,intron_variant,,ENST00000479492,;CPA5,intron_variant,,ENST00000431780,;CPA5,non_coding_transcript_exon_variant,,ENST00000495736,;	2239	72	53	SUCCESS
ASB10	136371	.	GRCh37	7	150883497	150883497	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	88	0	ENST00000420175.2:c.566G>T	p.Arg189Leu	p.R189L	ENST00000420175		189	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS47750.2	566	MUTECT|MUSE	.	GCCCCCGGCAG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000391137	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.175)	.	tolerated(0.2)	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Arg189Leu,ENST00000275838,;ASB10,missense_variant,p.Arg234Leu,ENST00000434669,;ASB10,missense_variant,p.Arg174Leu,ENST00000377867,;ASB10,missense_variant,p.Arg189Leu,ENST00000420175,;ASB10,missense_variant,p.Arg234Leu,ENST00000422024,;ASB10,downstream_gene_variant,,ENST00000415615,;IQCA1P1,downstream_gene_variant,,ENST00000453127,;	591	88	104	SUCCESS
HECW1	23072	.	GRCh37	7	43351516	43351516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	19	102	0	ENST00000395891.2:c.182T>C	p.Val61Ala	p.V61A	ENST00000395891	NM_015052.3	61	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS5469.2	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGTCACCA	NONE	.	.	hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated_low_confidence(0.12)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Val61Ala,ENST00000453890,;HECW1,missense_variant,p.Val61Ala,ENST00000395891,;HECW1,non_coding_transcript_exon_variant,,ENST00000464944,;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;HECW1,non_coding_transcript_exon_variant,,ENST00000490954,;	787	102	97	SUCCESS
FBXL18	80028	.	GRCh37	7	5529530	5529530	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	22	121	0	ENST00000382368.3:c.2000+1332G>T		p.*667*	ENST00000382368	NM_024963.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43546.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCCCGCC	NONE	.	.	.	.	.	ENSP00000371805	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382368	Transcript	.	.	ENSG00000155034	21874	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FXL18_HUMAN	FBXL18	HGNC	.	.	UPI000020EA59	SNV	FBXL18,missense_variant,p.Asp772Tyr,ENST00000453700,;FBXL18,missense_variant,p.Asp656Tyr,ENST00000458142,;FBXL18,intron_variant,,ENST00000382368,;snoU13,downstream_gene_variant,,ENST00000458839,;FBXL18,intron_variant,,ENST00000415009,;	.	121	148	SUCCESS
CPSF4	10898	.	GRCh37	7	99047916	99047917	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	105	0	ENST00000292476.5:c.327dup	p.Cys110MetfsTer19	p.C110Mfs*19	ENST00000292476		109	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS5664.1	325-326	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAGGAATGT	NONE	.	.	PROSITE_profiles:PS50103,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF18,SMART_domains:SM00356	.	.	ENSP00000292476	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000292476	Transcript	.	.	ENSG00000160917	2327	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPSF4_HUMAN	CPSF4	HGNC	C9K0K2_HUMAN	.	UPI0000072392	insertion	CPSF4,frameshift_variant,p.Cys110MetfsTer19,ENST00000436336,;CPSF4,frameshift_variant,p.Cys57MetfsTer19,ENST00000412686,;CPSF4,frameshift_variant,p.Cys110MetfsTer19,ENST00000292476,;CPSF4,frameshift_variant,p.Cys77MetfsTer19,ENST00000452047,;CPSF4,frameshift_variant,p.Cys57MetfsTer19,ENST00000441580,;PTCD1,intron_variant,,ENST00000555673,;CPSF4,intron_variant,,ENST00000451876,;ATP5J2-PTCD1,intron_variant,,ENST00000413834,;PTCD1,intron_variant,,ENST00000430982,;CPSF4,upstream_gene_variant,,ENST00000440514,;CPSF4,non_coding_transcript_exon_variant,,ENST00000471455,;ATP5J2,intron_variant,,ENST00000466753,;ATP5J2-PTCD1,intron_variant,,ENST00000437572,;CPSF4,3_prime_UTR_variant,,ENST00000430038,;CPSF4,non_coding_transcript_exon_variant,,ENST00000484112,;ATP5J2,intron_variant,,ENST00000414062,;ATP5J2-PTCD1,intron_variant,,ENST00000451138,;CPSF4,upstream_gene_variant,,ENST00000469897,;CPSF4,upstream_gene_variant,,ENST00000465132,;CPSF4,upstream_gene_variant,,ENST00000482251,;	335-336	105	129	SUCCESS
CSMD1	64478	.	GRCh37	8	2823435	2823435	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	306	18	129	0	ENST00000537824.1:c.9142C>T	p.Gln3048Ter	p.Q3048*	ENST00000537824	NM_033225.5	3048	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS55189.1	9142	MUTECT|MUSE	.	AAACTGGATGC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	59/70	.	.	.	.	.	.	.	.	.	59/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,stop_gained,p.Gln2466Ter,ENST00000335551,;CSMD1,stop_gained,p.Gln3048Ter,ENST00000537824,;CSMD1,stop_gained,p.Gln3049Ter,ENST00000602557,;CSMD1,stop_gained,p.Gln3049Ter,ENST00000520002,;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000542608,;CSMD1,intron_variant,,ENST00000602723,;	9142	129	324	SUCCESS
PI15	51050	.	GRCh37	8	75737717	75737717	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1290077108	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	63	60	1	ENST00000260113.2:c.233G>A	p.Arg78Gln	p.R78Q	ENST00000260113	NM_015886.3	78	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6218.1	233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGGGGCA	NONE	.	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF63,Gene3D:3.40.33.10,Pfam_domain:PF00188,SMART_domains:SM00198,Superfamily_domains:SSF55797	.	.	ENSP00000260113	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000260113	Transcript	.	.	ENSG00000137558	8946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PI15_HUMAN	PI15	HGNC	.	.	UPI00000422F7	SNV	PI15,missense_variant,p.Arg78Gln,ENST00000523773,;PI15,missense_variant,p.Arg78Gln,ENST00000260113,;RP11-758M4.4,intron_variant,,ENST00000518128,;RP11-758M4.4,intron_variant,,ENST00000523860,;RP11-758M4.1,downstream_gene_variant,,ENST00000523442,;	412	61	115	SUCCESS
GALNT12	79695	.	GRCh37	9	101589127	101589127	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777425926	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	74	0	ENST00000375011.3:c.635G>A	p.Arg212Gln	p.R212Q	ENST00000375011	NM_024642.4	212	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS6737.1	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGGCTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF18,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	.	ENSP00000364150	.	3/10	.	.	.	.	.	.	.	.	rs777425926	3/10	PASS	ENST00000375011	Transcript	.	.	ENSG00000119514	19877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GLT12_HUMAN	GALNT12	HGNC	.	.	UPI000004D295	SNV	GALNT12,missense_variant,p.Arg212Gln,ENST00000375011,;	635	74	59	SUCCESS
CELP	1057	.	GRCh37	9	135960336	135960336	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	35	0	ENST00000411440.2:n.385G>A		p.*129*	ENST00000411440				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	CCCAGGAGAAT	NONE	.	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000411440	Transcript	.	.	ENSG00000170827	1849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CELP	HGNC	.	.	.	SNV	CELP,non_coding_transcript_exon_variant,,ENST00000411440,;CELP,non_coding_transcript_exon_variant,,ENST00000421286,;	385	35	38	SUCCESS
APBA1	320	.	GRCh37	9	72071259	72071259	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	62	0	ENST00000265381.4:c.1692T>A	p.Pro564=	p.P564=	ENST00000265381	NM_001163.3	564	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6630.1	1692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGAGGCAT	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000265381	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,synonymous_variant,p.%3D,ENST00000265381,;APBA1,non_coding_transcript_exon_variant,,ENST00000470082,;	1915	62	70	SUCCESS
RAB40AL	282808	.	GRCh37	X	102192893	102192893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	5	111	0	ENST00000218249.5:c.647T>C	p.Ile216Thr	p.I216T	ENST00000218249	NM_001031834.1	216	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS35353.1	647	MUTECT|MUSE	.	CCCCATTGCCT	NONE	.	.	PROSITE_profiles:PS50225,hmmpanther:PTHR24073:SF434,hmmpanther:PTHR24073,Pfam_domain:PF07525,SMART_domains:SM00253,SMART_domains:SM00176,SMART_domains:SM00969,Superfamily_domains:SSF158235	.	.	ENSP00000218249	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000218249	Transcript	.	.	ENSG00000102128	25410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated_low_confidence(0.61)	.	RB40L_HUMAN	RAB40AL	HGNC	.	.	UPI000013C751	SNV	RAB40AL,missense_variant,p.Ile216Thr,ENST00000218249,;LL0XNC01-237H1.3,non_coding_transcript_exon_variant,,ENST00000413528,;	694	111	109	SUCCESS
MAGEA6	4105	.	GRCh37	X	151869393	151869393	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782605651	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	27	0	ENST00000329342.5:c.83C>T	p.Ala28Val	p.A28V	ENST00000329342	NM_005363.2	28	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14708.1	83	RADIA|VARSCANS	.	GGGTGCGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF12440	.	.	ENSP00000329199	.	3/3	.	.	.	.	.	.	.	.	rs782605651	3/3	PASS	ENST00000329342	Transcript	.	.	ENSG00000197172	6804	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.376)	.	tolerated(0.2)	.	MAGA6_HUMAN	MAGEA6	HGNC	E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN	.	UPI000000D9B0	SNV	MAGEA6,missense_variant,p.Ala28Val,ENST00000412733,;MAGEA6,missense_variant,p.Ala28Val,ENST00000457643,;MAGEA6,missense_variant,p.Ala28Val,ENST00000329342,;	308	27	21	SUCCESS
POLA1	5422	.	GRCh37	X	24861714	24861714	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	18	198	0	ENST00000379059.3:c.3949G>A	p.Ala1317Thr	p.A1317T	ENST00000379059	NM_016937.3	1317	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14214.1	3949	MUTECT|MUSE|VARSCANS	.	GTAAGGCTTCA	NONE	.	.	hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Pfam_domain:PF08996	.	.	ENSP00000368349	.	34/37	.	.	.	.	.	.	.	.	.	34/37	PASS	ENST00000379059	Transcript	.	.	ENSG00000101868	9173	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.83)	.	DPOLA_HUMAN	POLA1	HGNC	.	.	UPI000014D383	SNV	POLA1,missense_variant,p.Ala1317Thr,ENST00000379059,;POLA1,missense_variant,p.Ala1323Thr,ENST00000379068,;POLA1,downstream_gene_variant,,ENST00000494204,;	3964	198	207	SUCCESS
FAM208B	0	.	GRCh37	10	5788372	5788372	+	synonymous_variant	Silent	SNP	C	C	T	rs545198118	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	79	0	ENST00000328090.5:c.2988C>T	p.Tyr996=	p.Y996=	ENST00000328090	NM_017782.4	996	taC/taT	0	.	T:0	.	T:0	.	T	Y	protein_coding	YES	CCDS41485.1	2988	RADIA|MUTECT|MUSE	.	GTGTACGGCAC	NONE	by1000G	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10,Pfam_domain:PF12509	T:0	.	ENSP00000328426	T:0	15/21	.	.	.	.	.	.	.	.	rs545198118,COSM919089	15/21	PASS	ENST00000328090	Transcript	.	T:0.0002	ENSG00000108021	23484	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0.001	.	0,1	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,synonymous_variant,p.%3D,ENST00000328090,;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;	3613	79	48	SUCCESS
FUT11	170384	.	GRCh37	10	75532078	75532078	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	37	1	ENST00000372841.3:c.-14C>T		p.*5*	ENST00000372841	NM_173540.2	101		0	.	.	.	.	.	T	A/T	protein_coding	YES	.	301	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCCGGCTGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000472381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000595757	Transcript	.	.	ENSG00000267964	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	AC022400.2	Clone_based_ensembl_gene	Q6ZTF3_HUMAN	.	UPI00001C0CDA	SNV	AC022400.2,missense_variant,p.Ala101Thr,ENST00000595757,;FUT11,5_prime_UTR_variant,,ENST00000372841,;FUT11,5_prime_UTR_variant,,ENST00000394790,;SEC24C,downstream_gene_variant,,ENST00000540668,;SEC24C,downstream_gene_variant,,ENST00000345254,;SEC24C,downstream_gene_variant,,ENST00000411652,;SEC24C,downstream_gene_variant,,ENST00000339365,;SEC24C,downstream_gene_variant,,ENST00000535742,;RMRPP1,downstream_gene_variant,,ENST00000517236,;SEC24C,downstream_gene_variant,,ENST00000496827,;FUT11,upstream_gene_variant,,ENST00000465695,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,downstream_gene_variant,,ENST00000465076,;	301	38	18	SUCCESS
OR6M1	390261	.	GRCh37	11	123676932	123676932	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	123	0	ENST00000309154.2:c.126C>A	p.Thr42=	p.T42=	ENST00000309154	NM_001005325.1	42	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31696.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGGTGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000311038	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309154	Transcript	.	.	ENSG00000196099	14711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6M1_HUMAN	OR6M1	HGNC	.	.	UPI000003FE18	SNV	OR6M1,synonymous_variant,p.%3D,ENST00000309154,;	164	123	95	SUCCESS
HEPACAM	220296	.	GRCh37	11	124794662	124794662	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs760592475	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	58	0	ENST00000298251.4:c.389C>G	p.Thr130Ser	p.T130S	ENST00000298251	NM_152722.4	130	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS8456.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGTGTCG	NONE	byFrequency	.	hmmpanther:PTHR19955:SF104,hmmpanther:PTHR19955,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000298251	.	2/7	.	.	.	.	.	.	.	.	rs760592475	2/7	PASS	ENST00000298251	Transcript	.	.	ENSG00000165478	26361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	tolerated(0.06)	.	HECAM_HUMAN	HEPACAM	HGNC	.	.	UPI000013E4B5	SNV	HEPACAM,missense_variant,p.Thr130Ser,ENST00000298251,;HEPN1,downstream_gene_variant,,ENST00000408930,;HEPACAM,non_coding_transcript_exon_variant,,ENST00000528971,;HEPACAM,non_coding_transcript_exon_variant,,ENST00000526273,;	795	58	31	SUCCESS
MRGPRX3	117195	.	GRCh37	11	18159634	18159634	+	synonymous_variant	Silent	SNP	G	G	T	rs768690835	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	47	0	ENST00000396275.2:c.885G>T	p.Leu295=	p.L295=	ENST00000396275	NM_054031.3	295	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7830.1	885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCAGGA	NONE	.	.	hmmpanther:PTHR11334:SF22,hmmpanther:PTHR11334,Prints_domain:PR02108	.	.	ENSP00000379571	.	3/3	.	.	.	.	.	.	.	.	rs768690835	3/3	PASS	ENST00000396275	Transcript	.	.	ENSG00000179826	17980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRGX3_HUMAN	MRGPRX3	HGNC	E9PPY5_HUMAN	.	UPI0000061FCF	SNV	MRGPRX3,synonymous_variant,p.%3D,ENST00000396275,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;MRGPRX3,downstream_gene_variant,,ENST00000531264,;	1246	48	51	SUCCESS
OR5T2	219464	.	GRCh37	11	56000549	56000549	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1289622581	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	99	1	ENST00000313264.4:c.113T>C	p.Leu38Pro	p.L38P	ENST00000313264	NM_001004746.1	38	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31523.1	113	RADIA|SOMATICSNIPER|VARSCANS	.	AATCTAGAACA	NONE	.	.	hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.143)	.	tolerated_low_confidence(0.09)	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,missense_variant,p.Leu38Pro,ENST00000313264,;	189	101	82	SUCCESS
TMEM132A	54972	.	GRCh37	11	60694685	60694685	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	23	1	ENST00000453848.2:c.110G>T	p.Gly37Val	p.G37V	ENST00000453848		37	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7997.1	110	SOMATICSNIPER|VARSCANS	.	CTGTGGCCAGG	NONE	.	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388	.	.	ENSP00000005286	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.189)	.	tolerated(0.07)	.	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,missense_variant,p.Gly37Val,ENST00000453848,;TMEM132A,missense_variant,p.Gly37Val,ENST00000005286,;TMEM132A,5_prime_UTR_variant,,ENST00000544065,;TMEM132A,upstream_gene_variant,,ENST00000536409,;TMEM109,downstream_gene_variant,,ENST00000536171,;TMEM109,downstream_gene_variant,,ENST00000227525,;RP11-881M11.4,upstream_gene_variant,,ENST00000543907,;TMEM132A,intron_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,upstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM109,downstream_gene_variant,,ENST00000540280,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;	263	25	31	SUCCESS
EEF1G	1937	.	GRCh37	11	62334990	62334990	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	69	0	ENST00000329251.4:c.533C>G	p.Pro178Arg	p.P178R	ENST00000329251	NM_001404.4	178	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS44626.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGGCTCT	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF161,Pfam_domain:PF00043,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616	.	.	ENSP00000331901	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000329251	Transcript	.	.	ENSG00000254772	3213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	EF1G_HUMAN	EEF1G	HGNC	Q53YD7_HUMAN,Q2F840_HUMAN	.	UPI00000012C3	SNV	EEF1G,missense_variant,p.Pro228Arg,ENST00000378019,;EEF1G,missense_variant,p.Pro178Arg,ENST00000329251,;EEF1G,non_coding_transcript_exon_variant,,ENST00000524420,;EEF1G,downstream_gene_variant,,ENST00000532986,;MIR3654,3_prime_UTR_variant,,ENST00000496634,;MIR3654,non_coding_transcript_exon_variant,,ENST00000526409,;EEF1G,non_coding_transcript_exon_variant,,ENST00000525340,;	664	69	48	SUCCESS
OMP	4975	.	GRCh37	11	76814313	76814313	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	42	1	ENST00000529803.1:c.428T>C	p.Val143Ala	p.V143A	ENST00000529803	NM_006189.1	143	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS53682.1	428	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTCGTCACCT	NONE	.	.	hmmpanther:PTHR15357,Gene3D:1f35A00,Pfam_domain:PF06554,Superfamily_domains:0037362	.	.	ENSP00000436376	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529803	Transcript	.	.	ENSG00000254550	8136	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.055)	.	deleterious_low_confidence(0.02)	.	OMP_HUMAN	OMP	HGNC	.	.	UPI00001637C1	SNV	OMP,missense_variant,p.Val143Ala,ENST00000529803,;CAPN5,intron_variant,,ENST00000529629,;CAPN5,intron_variant,,ENST00000456580,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,intron_variant,,ENST00000278559,;CAPN5,intron_variant,,ENST00000533889,;	428	43	38	SUCCESS
CORO1C	23603	.	GRCh37	12	109042555	109042555	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	95	2	ENST00000261401.3:c.1131G>A	p.Trp377Ter	p.W377*	ENST00000261401	NM_014325.3	377	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS9120.1	1131	RADIA|SOMATICSNIPER|VARSCANS	.	TCGAACCACTC	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF10,Pfam_domain:PF08954	.	.	ENSP00000261401	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000261401	Transcript	.	.	ENSG00000110880	2254	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COR1C_HUMAN	CORO1C	HGNC	H0YHL7_HUMAN,F8VVB7_HUMAN,F8VV53_HUMAN,F8VTT6_HUMAN,F8VSA4_HUMAN,F8VRE9_HUMAN,B7Z9V0_HUMAN,B4E3S0_HUMAN	.	UPI0000127C44	SNV	CORO1C,stop_gained,p.Trp430Ter,ENST00000420959,;CORO1C,stop_gained,p.Trp272Ter,ENST00000421578,;CORO1C,stop_gained,p.Trp383Ter,ENST00000549772,;CORO1C,stop_gained,p.Trp377Ter,ENST00000541050,;CORO1C,stop_gained,p.Trp68Ter,ENST00000546705,;CORO1C,stop_gained,p.Trp377Ter,ENST00000261401,;CORO1C,non_coding_transcript_exon_variant,,ENST00000549384,;CORO1C,downstream_gene_variant,,ENST00000552030,;CORO1C,3_prime_UTR_variant,,ENST00000550542,;CORO1C,non_coding_transcript_exon_variant,,ENST00000549387,;CORO1C,downstream_gene_variant,,ENST00000547361,;	1304	97	98	SUCCESS
HECTD4	283450	.	GRCh37	12	112622701	112622701	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747606994	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	51	1	ENST00000550722.1:c.9631G>C	p.Ala3211Pro	p.A3211P	ENST00000550722	NM_001109662.3	3211	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	.	9631	RADIA|SOMATICSNIPER|VARSCANS	.	GAGTGCGCGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	61/76	.	.	.	.	.	.	.	.	rs747606994,COSM1948330,COSM1948331	61/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	possibly_damaging(0.884)	.	.	0,1,1	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Ala2935Pro,ENST00000430131,;HECTD4,missense_variant,p.Ala3211Pro,ENST00000550722,;HECTD4,missense_variant,p.Ala3185Pro,ENST00000377560,;	10027	52	55	SUCCESS
NCOR2	9612	.	GRCh37	12	124824871	124824871	+	synonymous_variant	Silent	SNP	C	C	T	rs780246024	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	38	1	ENST00000405201.1:c.5457G>A	p.Thr1819=	p.T1819=	ENST00000405201		1819	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS41858.2	5457	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACCGTCGTGGT	NONE	byFrequency	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	36/47	.	.	.	.	.	.	.	.	rs780246024	36/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,synonymous_variant,p.%3D,ENST00000356219,;NCOR2,synonymous_variant,p.%3D,ENST00000453428,;NCOR2,synonymous_variant,p.%3D,ENST00000440187,;NCOR2,synonymous_variant,p.%3D,ENST00000404121,;NCOR2,synonymous_variant,p.%3D,ENST00000429285,;NCOR2,synonymous_variant,p.%3D,ENST00000405201,;NCOR2,synonymous_variant,p.%3D,ENST00000404621,;NCOR2,synonymous_variant,p.%3D,ENST00000397355,;NCOR2,upstream_gene_variant,,ENST00000461081,;	5458	39	26	SUCCESS
GLT1D1	144423	.	GRCh37	12	129360597	129360597	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	42	0	ENST00000442111.2:c.207G>A	p.Arg69=	p.R69=	ENST00000442111		69	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9265.1	207	MUTECT|MUSE|VARSCANS	.	GGCAGGCTTTT	NONE	.	.	hmmpanther:PTHR12526,hmmpanther:PTHR12526:SF331	.	.	ENSP00000281703	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000281703	Transcript	.	.	ENSG00000151948	26483	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GL1D1_HUMAN	GLT1D1	HGNC	.	.	UPI0000070E33	SNV	GLT1D1,synonymous_variant,p.%3D,ENST00000281703,;GLT1D1,synonymous_variant,p.%3D,ENST00000442111,;GLT1D1,synonymous_variant,p.%3D,ENST00000537468,;GLT1D1,5_prime_UTR_variant,,ENST00000542193,;GLT1D1,synonymous_variant,p.%3D,ENST00000413816,;GLT1D1,synonymous_variant,p.%3D,ENST00000441390,;GLT1D1,synonymous_variant,p.%3D,ENST00000539044,;	253	42	49	SUCCESS
POLE	5426	.	GRCh37	12	133201295	133201295	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	56	2	ENST00000320574.5:c.6849G>A	p.Gln2283=	p.Q2283=	ENST00000320574	NM_006231.2	2283	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9278.1	6849	SOMATICSNIPER|VARSCANS	.	CCCAGCTGTGG	NONE	.	.	.	.	.	ENSP00000322570	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000320574	Transcript	.	.	ENSG00000177084	9177	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPOE1_HUMAN	POLE	HGNC	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN	.	UPI00001FBF97	SNV	POLE,synonymous_variant,p.%3D,ENST00000535270,;POLE,synonymous_variant,p.%3D,ENST00000320574,;P2RX2,downstream_gene_variant,,ENST00000542301,;P2RX2,downstream_gene_variant,,ENST00000352418,;P2RX2,downstream_gene_variant,,ENST00000343948,;P2RX2,downstream_gene_variant,,ENST00000389110,;P2RX2,downstream_gene_variant,,ENST00000536121,;P2RX2,downstream_gene_variant,,ENST00000350048,;P2RX2,downstream_gene_variant,,ENST00000348800,;P2RX2,downstream_gene_variant,,ENST00000351222,;P2RX2,downstream_gene_variant,,ENST00000535910,;P2RX2,downstream_gene_variant,,ENST00000449132,;POLE,downstream_gene_variant,,ENST00000544870,;POLE,downstream_gene_variant,,ENST00000538196,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000541627,;POLE,non_coding_transcript_exon_variant,,ENST00000534922,;POLE,non_coding_transcript_exon_variant,,ENST00000544692,;POLE,downstream_gene_variant,,ENST00000543516,;	6893	58	73	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50186524	50186524	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	50	0	ENST00000335999.6:c.3586C>T	p.Pro1196Ser	p.P1196S	ENST00000335999	NM_001037806.3	1196	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41781.2	3586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21740	.	.	ENSP00000337998	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	deleterious(0.04)	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Pro1196Ser,ENST00000335999,;NCKAP5L,missense_variant,p.Pro911Ser,ENST00000433948,;	3788	50	89	SUCCESS
OS9	10956	.	GRCh37	12	58087958	58087958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150848860	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	74	0	ENST00000315970.7:c.14C>T	p.Thr5Met	p.T5M	ENST00000315970	NM_006812.3	5	aCg/aTg	0	G:0.0084	G:0.0159	.	G:0	.	T	T/M	protein_coding	YES	CCDS31843.1	14	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACGCTGC	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1	G:0	G:0	ENSP00000318165	G:0	1/15	.	.	.	.	.	.	.	.	rs150848860	1/15	PASS	ENST00000315970	Transcript	.	G:0.0042	ENSG00000135506	16994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	G:0	deleterious(0.04)	.	OS9_HUMAN	OS9	HGNC	Q9BR60_HUMAN	.	UPI0000130EAC	SNV	OS9,missense_variant,p.Thr5Met,ENST00000413095,;OS9,missense_variant,p.Thr5Met,ENST00000257966,;OS9,missense_variant,p.Thr5Met,ENST00000435406,;OS9,missense_variant,p.Thr5Met,ENST00000551035,;OS9,missense_variant,p.Thr5Met,ENST00000315970,;OS9,missense_variant,p.Thr5Met,ENST00000552285,;OS9,missense_variant,p.Thr5Met,ENST00000389142,;OS9,missense_variant,p.Thr5Met,ENST00000389146,;OS9,missense_variant,p.Thr5Met,ENST00000550372,;OS9,missense_variant,p.Thr5Met,ENST00000547079,;OS9,missense_variant,p.Thr5Met,ENST00000439210,;RP11-571M6.7,non_coding_transcript_exon_variant,,ENST00000549477,;OS9,missense_variant,p.Thr5Met,ENST00000550848,;OS9,missense_variant,p.Thr5Met,ENST00000552787,;OS9,missense_variant,p.Thr5Met,ENST00000552423,;OS9,missense_variant,p.Thr5Met,ENST00000551285,;OS9,non_coding_transcript_exon_variant,,ENST00000549897,;OS9,non_coding_transcript_exon_variant,,ENST00000550793,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,upstream_gene_variant,,ENST00000549307,;	55	74	116	SUCCESS
CLSTN3	9746	.	GRCh37	12	7287981	7287981	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759093363	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	87	1	ENST00000266546.6:c.442C>G	p.Arg148Gly	p.R148G	ENST00000266546	NM_014718.3	148	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8575.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACGGCTG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000266546	.	4/18	.	.	.	.	.	.	.	.	rs759093363,COSM4044735	4/18	PASS	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.011)	.	tolerated(0.18)	0,1	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	SNV	CLSTN3,missense_variant,p.Arg160Gly,ENST00000537408,;CLSTN3,missense_variant,p.Arg131Gly,ENST00000539982,;CLSTN3,missense_variant,p.Arg148Gly,ENST00000266546,;CLSTN3,missense_variant,p.Arg111Gly,ENST00000535452,;CLSTN3,missense_variant,p.Arg111Gly,ENST00000545663,;CLSTN3,missense_variant,p.Arg111Gly,ENST00000534830,;CLSTN3,downstream_gene_variant,,ENST00000541953,;RP11-273B20.1,upstream_gene_variant,,ENST00000538062,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541667,;CLSTN3,upstream_gene_variant,,ENST00000544584,;CLSTN3,upstream_gene_variant,,ENST00000535668,;CLSTN3,upstream_gene_variant,,ENST00000540931,;CLSTN3,downstream_gene_variant,,ENST00000538933,;	892	88	95	SUCCESS
PCDH17	27253	.	GRCh37	13	58208334	58208334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	66	2	ENST00000377918.3:c.1654G>A	p.Val552Met	p.V552M	ENST00000377918	NM_001040429.2	552	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS31986.1	1654	SOMATICSNIPER|VARSCANS	.	TCAAGGTGCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF41,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000367151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,missense_variant,p.Val552Met,ENST00000377918,;PCDH17,missense_variant,p.Val552Met,ENST00000484979,;	1680	68	65	SUCCESS
FANCM	57697	.	GRCh37	14	45658377	45658377	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371629950	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	73	167	0	ENST00000267430.5:c.5152G>A	p.Val1718Met	p.V1718M	ENST00000267430	NM_020937.2	1718	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS32070.1	5152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGTGCGT	NONE	byCluster	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	A:0.0001	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	rs371629950	20/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.11)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Val651Met,ENST00000554809,;FANCM,missense_variant,p.Val1692Met,ENST00000542564,;FANCM,missense_variant,p.Val1234Met,ENST00000556250,;FANCM,missense_variant,p.Val1718Met,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	5237	167	166	SUCCESS
TMEM30B	161291	.	GRCh37	14	61747549	61747549	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	12	0	ENST00000555868.1:c.317G>A	p.Gly106Asp	p.G106D	ENST00000555868	NM_001017970.2	106	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS32093.1	317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCCTGG	NONE	.	.	PIRSF_domain:PIRSF015840,Pfam_domain:PF03381,hmmpanther:PTHR10926,hmmpanther:PTHR10926:SF19	.	.	ENSP00000450842	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000555868	Transcript	.	.	ENSG00000182107	27254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	CC50B_HUMAN	TMEM30B	HGNC	.	.	UPI00001614C5	SNV	TMEM30B,missense_variant,p.Gly106Asp,ENST00000555868,;TMEM30B,missense_variant,p.Gly106Asp,ENST00000355702,;PRKCH,intron_variant,,ENST00000557294,;PRKCH,intron_variant,,ENST00000556778,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,upstream_gene_variant,,ENST00000555906,;PRKCH,upstream_gene_variant,,ENST00000555542,;TMEM30B,non_coding_transcript_exon_variant,,ENST00000557163,;TMEM30B,non_coding_transcript_exon_variant,,ENST00000554497,;PRKCH,upstream_gene_variant,,ENST00000554835,;	1010	12	23	SUCCESS
FNTB	2342	.	GRCh37	14	65453640	65453640	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	48	0	ENST00000246166.2:c.-32A>G		p.*11*	ENST00000246166	NM_002028.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9769.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAGTCCT	NONE	.	.	.	.	.	ENSP00000246166	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000246166	Transcript	.	.	ENSG00000257365	3785	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNTB_HUMAN	FNTB	HGNC	Q86TX8_HUMAN,B4DJ86_HUMAN,B3KSC2_HUMAN	.	UPI0000111EF4	SNV	FNTB,5_prime_UTR_variant,,ENST00000246166,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1-FNTB,intron_variant,,ENST00000553743,;FNTB,intron_variant,,ENST00000542227,;FNTB,non_coding_transcript_exon_variant,,ENST00000555372,;FNTB,upstream_gene_variant,,ENST00000555742,;CHURC1-FNTB,intron_variant,,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;	203	48	45	SUCCESS
PAPLN	89932	.	GRCh37	14	73729395	73729395	+	synonymous_variant	Silent	SNP	C	C	T	rs1183672453	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	65	0	ENST00000554301.1:c.2583C>T	p.Asp861=	p.D861=	ENST00000554301		861	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS32114.1	2502	MUTECT|MUSE|VARSCANS	.	CAAGACCAACA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20	.	.	ENSP00000345395	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000340738	Transcript	.	.	ENSG00000100767	19262	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPN_HUMAN	PAPLN	HGNC	B3KXI1_HUMAN	.	UPI0000D6242C	SNV	PAPLN,synonymous_variant,p.%3D,ENST00000559759,;PAPLN,synonymous_variant,p.%3D,ENST00000555445,;PAPLN,synonymous_variant,p.%3D,ENST00000381166,;PAPLN,synonymous_variant,p.%3D,ENST00000427855,;PAPLN,synonymous_variant,p.%3D,ENST00000554301,;PAPLN,synonymous_variant,p.%3D,ENST00000340738,;PAPLN,non_coding_transcript_exon_variant,,ENST00000554314,;PAPLN,synonymous_variant,p.%3D,ENST00000557061,;PAPLN,synonymous_variant,p.%3D,ENST00000555123,;PAPLN,non_coding_transcript_exon_variant,,ENST00000555700,;PAPLN,intron_variant,,ENST00000216658,;	2604	65	44	SUCCESS
DLST	1743	.	GRCh37	14	75359658	75359658	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	59	0	ENST00000334220.4:c.564C>T	p.Pro188=	p.P188=	ENST00000334220	NM_001933.4	188	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9833.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCTCGCC	NONE	.	.	Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01347,hmmpanther:PTHR23151:SF8,hmmpanther:PTHR23151	.	.	ENSP00000335304	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000334220	Transcript	.	.	ENSG00000119689	2911	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ODO2_HUMAN	DLST	HGNC	.	.	UPI00000000C0	SNV	DLST,synonymous_variant,p.%3D,ENST00000334220,;DLST,synonymous_variant,p.%3D,ENST00000334212,;DLST,synonymous_variant,p.%3D,ENST00000554806,;DLST,non_coding_transcript_exon_variant,,ENST00000555190,;DLST,3_prime_UTR_variant,,ENST00000554612,;DLST,3_prime_UTR_variant,,ENST00000238671,;DLST,3_prime_UTR_variant,,ENST00000555089,;DLST,3_prime_UTR_variant,,ENST00000555988,;DLST,downstream_gene_variant,,ENST00000555459,;DLST,downstream_gene_variant,,ENST00000550473,;DLST,downstream_gene_variant,,ENST00000556460,;DLST,downstream_gene_variant,,ENST00000557012,;DLST,downstream_gene_variant,,ENST00000555071,;DLST,downstream_gene_variant,,ENST00000556582,;DLST,downstream_gene_variant,,ENST00000555492,;	625	59	71	SUCCESS
NEK9	91754	.	GRCh37	14	75590774	75590774	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	73	0	ENST00000238616.5:c.372G>A	p.Leu124=	p.L124=	ENST00000238616	NM_033116.4	124	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9839.1	372	MUTECT|MUSE	.	ATCAGCAGCGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000238616	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	SNV	NEK9,synonymous_variant,p.%3D,ENST00000553823,;NEK9,synonymous_variant,p.%3D,ENST00000557673,;NEK9,synonymous_variant,p.%3D,ENST00000238616,;RP11-950C14.7,upstream_gene_variant,,ENST00000556236,;NEK9,synonymous_variant,p.%3D,ENST00000553945,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,intron_variant,,ENST00000554258,;NEK9,upstream_gene_variant,,ENST00000555961,;	531	73	53	SUCCESS
PDCD7	10081	.	GRCh37	15	65411134	65411134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	64	1	ENST00000204549.4:c.1379G>A	p.Gly460Asp	p.G460D	ENST00000204549	NM_005707.1	460	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS10201.1	1379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGCCTTTG	NONE	.	.	hmmpanther:PTHR24022	.	.	ENSP00000204549	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000204549	Transcript	.	.	ENSG00000090470	8767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	PDCD7_HUMAN	PDCD7	HGNC	Q6IEG3_HUMAN	.	UPI00000731D7	SNV	PDCD7,missense_variant,p.Gly460Asp,ENST00000204549,;PDCD7,missense_variant,p.Gly91Asp,ENST00000560313,;UBAP1L,upstream_gene_variant,,ENST00000559089,;PDCD7,downstream_gene_variant,,ENST00000559051,;	1434	65	72	SUCCESS
IL16	3603	.	GRCh37	15	81593848	81593848	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	52	0	ENST00000302987.4:c.3313T>G	p.Leu1105Val	p.L1105V	ENST00000302987		1105	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS42069.1	3313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATTAAAG	NONE	.	.	hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Prints_domain:PR01931	.	.	ENSP00000302935	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000302987	Transcript	.	.	ENSG00000172349	5980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	deleterious(0)	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,missense_variant,p.Leu409Val,ENST00000558332,;IL16,missense_variant,p.Leu1105Val,ENST00000394660,;IL16,missense_variant,p.Leu1059Val,ENST00000559388,;IL16,missense_variant,p.Leu1105Val,ENST00000302987,;IL16,missense_variant,p.Leu404Val,ENST00000394652,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,downstream_gene_variant,,ENST00000560230,;IL16,3_prime_UTR_variant,,ENST00000558857,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,upstream_gene_variant,,ENST00000559953,;	3313	52	58	SUCCESS
ITGAD	3681	.	GRCh37	16	31414896	31414896	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	55	0	ENST00000389202.2:c.634C>T	p.Gln212Ter	p.Q212*	ENST00000389202	NM_005353.2	212	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32438.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAGAGC	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS50234	.	.	ENSP00000373854	.	7/30	.	.	.	.	.	.	.	.	.	7/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,stop_gained,p.Gln212Ter,ENST00000389202,;RP11-120K18.2,non_coding_transcript_exon_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	683	55	69	SUCCESS
NUP93	9688	.	GRCh37	16	56870513	56870513	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	45	0	ENST00000308159.5:c.1783C>T	p.Pro595Ser	p.P595S	ENST00000308159	NM_014669.4	595	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10769.1	1783	MUTECT|MUSE|VARSCANS	.	GTCAGCCTGGA	NONE	.	.	hmmpanther:PTHR11225,Pfam_domain:PF04097	.	.	ENSP00000310668	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000308159	Transcript	.	.	ENSG00000102900	28958	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.528)	.	tolerated(0.05)	.	NUP93_HUMAN	NUP93	HGNC	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN	.	UPI0000044E0C	SNV	NUP93,missense_variant,p.Pro472Ser,ENST00000564887,;NUP93,missense_variant,p.Pro472Ser,ENST00000542526,;NUP93,missense_variant,p.Pro595Ser,ENST00000569842,;NUP93,missense_variant,p.Pro595Ser,ENST00000308159,;NUP93,upstream_gene_variant,,ENST00000563486,;NUP93,upstream_gene_variant,,ENST00000569322,;NUP93,downstream_gene_variant,,ENST00000563858,;NUP93,upstream_gene_variant,,ENST00000563405,;NUP93,downstream_gene_variant,,ENST00000563437,;NUP93,upstream_gene_variant,,ENST00000564278,;	1904	45	30	SUCCESS
GPR56	0	.	GRCh37	16	57685514	57685514	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	53	1	ENST00000567835.1:c.467G>C	p.Ser156Thr	p.S156T	ENST00000567835		156	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS32460.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGCTTCA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF45	.	.	ENSP00000373464	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000388812	Transcript	.	.	ENSG00000205336	4512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.54)	.	GPR56_HUMAN	GPR56	HGNC	H3BVE9_HUMAN,H3BVD3_HUMAN,H3BV72_HUMAN,H3BV52_HUMAN,H3BUH2_HUMAN,H3BTK9_HUMAN,H3BTH7_HUMAN,H3BTD2_HUMAN,H3BT88_HUMAN,H3BSR1_HUMAN,H3BSN7_HUMAN,H3BSN3_HUMAN,H3BSB8_HUMAN,H3BS94_HUMAN,H3BS14_HUMAN,H3BRZ4_HUMAN,H3BRI7_HUMAN,H3BRH0_HUMAN,H3BRB4_HUMAN,H3BRA1_HUMAN,H3BQZ1_HUMAN,H3BQW4_HUMAN,H3BQ46_HUMAN,H3BNN3_HUMAN,H3BMF8_HUMAN	.	UPI0000047817	SNV	GPR56,missense_variant,p.Ser161Thr,ENST00000566271,;GPR56,missense_variant,p.Ser156Thr,ENST00000561988,;GPR56,missense_variant,p.Ser156Thr,ENST00000568909,;GPR56,missense_variant,p.Ser62Thr,ENST00000564103,;GPR56,missense_variant,p.Ser156Thr,ENST00000540164,;GPR56,missense_variant,p.Ser156Thr,ENST00000561969,;GPR56,missense_variant,p.Ser156Thr,ENST00000569101,;GPR56,missense_variant,p.Ser156Thr,ENST00000562631,;GPR56,missense_variant,p.Ser156Thr,ENST00000456916,;GPR56,missense_variant,p.Ser156Thr,ENST00000569494,;GPR56,missense_variant,p.Ser156Thr,ENST00000379696,;GPR56,missense_variant,p.Ser161Thr,ENST00000561782,;GPR56,missense_variant,p.Ser156Thr,ENST00000538815,;GPR56,missense_variant,p.Ser161Thr,ENST00000563862,;GPR56,missense_variant,p.Ser156Thr,ENST00000388812,;GPR56,missense_variant,p.Ser156Thr,ENST00000388813,;GPR56,missense_variant,p.Ser156Thr,ENST00000562558,;GPR56,missense_variant,p.Ser156Thr,ENST00000568908,;GPR56,missense_variant,p.Ser104Thr,ENST00000568531,;GPR56,missense_variant,p.Ser156Thr,ENST00000561833,;GPR56,missense_variant,p.Ser156Thr,ENST00000561696,;GPR56,missense_variant,p.Ser156Thr,ENST00000567835,;GPR56,5_prime_UTR_variant,,ENST00000544297,;GPR56,intron_variant,,ENST00000379694,;GPR56,downstream_gene_variant,,ENST00000568234,;GPR56,downstream_gene_variant,,ENST00000567154,;GPR56,downstream_gene_variant,,ENST00000566508,;GPR56,downstream_gene_variant,,ENST00000565770,;GPR56,downstream_gene_variant,,ENST00000568979,;GPR56,downstream_gene_variant,,ENST00000564722,;GPR56,downstream_gene_variant,,ENST00000564360,;GPR56,downstream_gene_variant,,ENST00000566778,;GPR56,downstream_gene_variant,,ENST00000563414,;GPR56,downstream_gene_variant,,ENST00000565976,;GPR56,downstream_gene_variant,,ENST00000568791,;GPR56,downstream_gene_variant,,ENST00000568074,;GPR56,downstream_gene_variant,,ENST00000566164,;GPR56,downstream_gene_variant,,ENST00000569158,;GPR56,downstream_gene_variant,,ENST00000563445,;GPR56,downstream_gene_variant,,ENST00000569531,;GPR56,downstream_gene_variant,,ENST00000564338,;GPR56,downstream_gene_variant,,ENST00000567397,;GPR56,downstream_gene_variant,,ENST00000565587,;GPR56,downstream_gene_variant,,ENST00000567702,;GPR56,downstream_gene_variant,,ENST00000568157,;GPR56,downstream_gene_variant,,ENST00000564783,;GPR56,downstream_gene_variant,,ENST00000568618,;GPR56,downstream_gene_variant,,ENST00000565338,;GPR56,downstream_gene_variant,,ENST00000563374,;GPR56,downstream_gene_variant,,ENST00000562414,;GPR56,downstream_gene_variant,,ENST00000564729,;GPR56,downstream_gene_variant,,ENST00000566187,;GPR56,upstream_gene_variant,,ENST00000565391,;GPR56,downstream_gene_variant,,ENST00000565314,;GPR56,downstream_gene_variant,,ENST00000563548,;GPR56,downstream_gene_variant,,ENST00000562467,;GPR56,downstream_gene_variant,,ENST00000566123,;GPR56,downstream_gene_variant,,ENST00000569154,;GPR56,downstream_gene_variant,,ENST00000565013,;GPR56,downstream_gene_variant,,ENST00000567915,;GPR56,downstream_gene_variant,,ENST00000570044,;GPR56,downstream_gene_variant,,ENST00000562682,;GPR56,downstream_gene_variant,,ENST00000569372,;GPR56,downstream_gene_variant,,ENST00000567553,;GPR56,downstream_gene_variant,,ENST00000566169,;GPR56,downstream_gene_variant,,ENST00000562003,;GPR56,non_coding_transcript_exon_variant,,ENST00000564912,;GPR56,non_coding_transcript_exon_variant,,ENST00000566888,;GPR56,non_coding_transcript_exon_variant,,ENST00000562608,;GPR56,intron_variant,,ENST00000568700,;GPR56,downstream_gene_variant,,ENST00000561872,;GPR56,downstream_gene_variant,,ENST00000569132,;GPR56,downstream_gene_variant,,ENST00000569992,;GPR56,downstream_gene_variant,,ENST00000562101,;GPR56,downstream_gene_variant,,ENST00000562673,;GPR56,3_prime_UTR_variant,,ENST00000565539,;GPR56,3_prime_UTR_variant,,ENST00000564907,;GPR56,3_prime_UTR_variant,,ENST00000568645,;GPR56,3_prime_UTR_variant,,ENST00000563007,;GPR56,upstream_gene_variant,,ENST00000565505,;	907	54	51	SUCCESS
NOB1	28987	.	GRCh37	16	69776359	69776359	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765124938	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	6	105	1	ENST00000268802.5:c.1115C>T	p.Pro372Leu	p.P372L	ENST00000268802	NM_014062.2	372	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10884.1	1115	MUTECT|VARSCANS	.	CAAAGGGTGAC	NONE	.	.	hmmpanther:PTHR12814,PIRSF_domain:PIRSF037125	.	.	ENSP00000268802	.	9/9	.	.	.	.	.	.	.	.	rs765124938	9/9	PASS	ENST00000268802	Transcript	.	.	ENSG00000141101	29540	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOB1_HUMAN	NOB1	HGNC	.	.	UPI0000034E10	SNV	NOB1,missense_variant,p.Pro372Leu,ENST00000268802,;CTD-2033A16.3,non_coding_transcript_exon_variant,,ENST00000575838,;NOB1,downstream_gene_variant,,ENST00000569871,;NOB1,downstream_gene_variant,,ENST00000564620,;	1145	106	68	SUCCESS
DDX19B	11269	.	GRCh37	16	70363839	70363839	+	synonymous_variant	Silent	SNP	G	G	A	rs1029934930	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	29	136	1	ENST00000288071.6:c.891G>A	p.Leu297=	p.L297=	ENST00000288071	NM_007242.5	297	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10888.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGAAGCG	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF194,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000288071	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000288071	Transcript	.	.	ENSG00000157349	2742	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DD19B_HUMAN	DDX19B	HGNC	Q2NL95_HUMAN,H3BN59_HUMAN,B4DL69_HUMAN	.	UPI000012907F	SNV	DDX19B,synonymous_variant,p.%3D,ENST00000393657,;DDX19B,synonymous_variant,p.%3D,ENST00000288071,;DDX19B,synonymous_variant,p.%3D,ENST00000451014,;DDX19B,synonymous_variant,p.%3D,ENST00000568625,;DDX19B,synonymous_variant,p.%3D,ENST00000355992,;DDX19B,synonymous_variant,p.%3D,ENST00000563206,;DDX19B,synonymous_variant,p.%3D,ENST00000563392,;RP11-529K1.3,intron_variant,,ENST00000567706,;DDX19B,downstream_gene_variant,,ENST00000566216,;RP11-529K1.2,intron_variant,,ENST00000562077,;DDX19B,3_prime_UTR_variant,,ENST00000562519,;DDX19B,3_prime_UTR_variant,,ENST00000568008,;RP11-529K1.3,intron_variant,,ENST00000565116,;RP11-529K1.2,downstream_gene_variant,,ENST00000570278,;DDX19B,downstream_gene_variant,,ENST00000568460,;DDX19B,downstream_gene_variant,,ENST00000568408,;	1136	137	110	SUCCESS
ANKRD13B	124930	.	GRCh37	17	27940598	27940598	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	20	0	ENST00000394859.3:c.1879T>C	p.Ter627GlnextTer108	p.*627Qext*108	ENST00000394859	NM_152345.4	627	Tag/Cag	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS11251.1	1879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTAGCGC	NONE	.	.	.	.	.	ENSP00000378328	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000394859	Transcript	.	.	ENSG00000198720	26363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN13B_HUMAN	ANKRD13B	HGNC	K7ENT0_HUMAN	.	UPI0000246D82	SNV	ANKRD13B,stop_lost,p.Ter627GlnextTer108,ENST00000394859,;CORO6,downstream_gene_variant,,ENST00000584969,;CORO6,downstream_gene_variant,,ENST00000456796,;CORO6,downstream_gene_variant,,ENST00000345068,;ANKRD13B,downstream_gene_variant,,ENST00000579719,;CORO6,downstream_gene_variant,,ENST00000388767,;CORO6,downstream_gene_variant,,ENST00000445145,;ANKRD13B,downstream_gene_variant,,ENST00000583728,;CORO6,downstream_gene_variant,,ENST00000580212,;RP11-68I3.2,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;ANKRD13B,stop_lost,p.Ter627GlnextTer78,ENST00000488766,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000493506,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000487527,;CORO6,downstream_gene_variant,,ENST00000480954,;ANKRD13B,downstream_gene_variant,,ENST00000578943,;CORO6,downstream_gene_variant,,ENST00000469090,;CORO6,downstream_gene_variant,,ENST00000459686,;ANKRD13B,downstream_gene_variant,,ENST00000578811,;CORO6,downstream_gene_variant,,ENST00000467534,;CORO6,downstream_gene_variant,,ENST00000579388,;	2033	20	20	SUCCESS
SLC16A6	9120	.	GRCh37	17	66268836	66268836	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	99	0	ENST00000327268.4:c.449T>C	p.Ile150Thr	p.I150T	ENST00000327268	NM_001174166.1	150	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11675.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATGGAA	NONE	.	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360:SF20,hmmpanther:PTHR11360,PROSITE_profiles:PS50850	.	.	ENSP00000319991	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000327268	Transcript	.	.	ENSG00000108932	10927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0)	.	MOT7_HUMAN	SLC16A6	HGNC	J3KS02_HUMAN,A1L174_HUMAN	.	UPI00001AA3B9	SNV	SLC16A6,missense_variant,p.Ile102Thr,ENST00000583477,;SLC16A6,missense_variant,p.Ile150Thr,ENST00000580666,;SLC16A6,missense_variant,p.Ile150Thr,ENST00000327268,;ARSG,intron_variant,,ENST00000448504,;SLC16A6,downstream_gene_variant,,ENST00000582867,;ARSG,intron_variant,,ENST00000578726,;	614	99	127	SUCCESS
FDXR	2232	.	GRCh37	17	72869123	72869123	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	39	1	ENST00000293195.5:c.-54C>T		p.*18*	ENST00000293195	NM_001258014.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58595.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCAGGGCAAGC	NONE	.	.	.	.	.	ENSP00000416515	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000442102	Transcript	.	.	ENSG00000161513	3642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADRO_HUMAN	FDXR	HGNC	.	.	UPI00017A7105	SNV	FDXR,5_prime_UTR_variant,,ENST00000293195,;FDXR,5_prime_UTR_variant,,ENST00000442102,;FDXR,5_prime_UTR_variant,,ENST00000583917,;FDXR,upstream_gene_variant,,ENST00000581219,;FDXR,upstream_gene_variant,,ENST00000579893,;FDXR,upstream_gene_variant,,ENST00000420580,;FDXR,upstream_gene_variant,,ENST00000544854,;FADS6,downstream_gene_variant,,ENST00000310226,;FDXR,upstream_gene_variant,,ENST00000581530,;FDXR,upstream_gene_variant,,ENST00000582944,;FDXR,upstream_gene_variant,,ENST00000413947,;FDXR,upstream_gene_variant,,ENST00000455107,;FDXR,upstream_gene_variant,,ENST00000581969,;FDXR,5_prime_UTR_variant,,ENST00000583881,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;FDXR,upstream_gene_variant,,ENST00000580492,;FDXR,upstream_gene_variant,,ENST00000579482,;FDXR,upstream_gene_variant,,ENST00000582710,;FDXR,upstream_gene_variant,,ENST00000577932,;FDXR,upstream_gene_variant,,ENST00000579543,;FDXR,upstream_gene_variant,,ENST00000577509,;FADS6,downstream_gene_variant,,ENST00000413142,;	34	41	40	SUCCESS
ASPSCR1	79058	.	GRCh37	17	79937057	79937057	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	25	0	ENST00000306739.4:c.103-3C>A		p.X35_splice	ENST00000306739	NM_024083.3	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58611.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCAGGTT	NONE	.	.	.	.	.	ENSP00000306625	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306729	Transcript	.	.	ENSG00000169696	13825	.	.	LOW	1/16	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASPC1_HUMAN	ASPSCR1	HGNC	.	.	UPI000007263D	SNV	ASPSCR1,splice_region_variant,,ENST00000579684,;ASPSCR1,splice_region_variant,,ENST00000581484,;ASPSCR1,splice_region_variant,,ENST00000306739,;ASPSCR1,splice_region_variant,,ENST00000582019,;ASPSCR1,splice_region_variant,,ENST00000306729,;ASPSCR1,splice_region_variant,,ENST00000581647,;ASPSCR1,intron_variant,,ENST00000580534,;ASPSCR1,splice_region_variant,,ENST00000344865,;ASPSCR1,splice_region_variant,,ENST00000583503,;ASPSCR1,splice_region_variant,,ENST00000584454,;	.	25	43	SUCCESS
FAM210A	125228	.	GRCh37	18	13666480	13666480	+	stop_retained_variant	Silent	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	35	104	1	ENST00000322247.3:c.818A>G	p.Ter273=	p.*273=	ENST00000322247	NM_001098801.1	273	tAa/tGa	0	.	.	.	.	.	C	*	protein_coding	YES	CCDS11866.1	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTTATTCC	NONE	.	.	.	.	.	ENSP00000323635	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000322247	Transcript	.	.	ENSG00000177150	28346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F210A_HUMAN	FAM210A	HGNC	K7ERQ2_HUMAN,K7EK00_HUMAN	.	UPI000006D5B2	SNV	FAM210A,stop_retained_variant,p.%3D,ENST00000402563,;FAM210A,stop_retained_variant,p.%3D,ENST00000322247,;FAM210A,3_prime_UTR_variant,,ENST00000589346,;FAM210A,downstream_gene_variant,,ENST00000592976,;AP001010.1,downstream_gene_variant,,ENST00000580433,;FAM210A,non_coding_transcript_exon_variant,,ENST00000588475,;FAM210A,non_coding_transcript_exon_variant,,ENST00000585785,;	1206	105	84	SUCCESS
LAMA1	284217	.	GRCh37	18	6985309	6985309	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs532071998	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	72	1	ENST00000389658.3:c.5587A>T	p.Asn1863Tyr	p.N1863Y	ENST00000389658	NM_005559.3	1863	Aac/Tac	0	.	A:0	.	A:0	.	A	N/Y	protein_coding	YES	CCDS32787.1	5587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGTTCCTTT	NONE	by1000G	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574	A:0	.	ENSP00000374309	A:0.001	39/63	.	.	.	.	.	.	.	.	rs532071998	39/63	PASS	ENST00000389658	Transcript	.	A:0.0002	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	A:0	tolerated(0.05)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Asn1863Tyr,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	5681	73	65	SUCCESS
ZNF486	90649	.	GRCh37	19	20278100	20278100	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	45	0	ENST00000335117.8:c.-40G>A		p.*14*	ENST00000335117	NM_052852.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46029.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGGCCCT	NONE	.	.	.	.	.	ENSP00000335042	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000335117	Transcript	.	.	ENSG00000256229	20807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN486_HUMAN	ZNF486	HGNC	Q59FB0_HUMAN	.	UPI00002376E8	SNV	ZNF486,5_prime_UTR_variant,,ENST00000335117,;ZNF486,5_prime_UTR_variant,,ENST00000597083,;CTC-260E6.6,intron_variant,,ENST00000586657,;CTC-260E6.6,intron_variant,,ENST00000593655,;	18	45	37	SUCCESS
WDR87	83889	.	GRCh37	19	38385769	38385769	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	59	0	ENST00000303868.5:c.457A>T	p.Met153Leu	p.M153L	ENST00000303868	NM_031951.3	153	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS46063.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATGGAGA	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Met192Leu,ENST00000447313,;WDR87,missense_variant,p.Met153Leu,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	682	59	44	SUCCESS
PNMAL1	0	.	GRCh37	19	46973078	46973078	+	synonymous_variant	Silent	SNP	A	A	T	rs779646532	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	43	0	ENST00000313683.10:c.1215T>A	p.Pro405=	p.P405=	ENST00000313683	NM_018215.3	405	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33059.1	1215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGAGGGGC	NONE	byFrequency	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21	.	.	ENSP00000318131	.	2/3	.	.	.	.	.	.	.	.	rs779646532	2/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,synonymous_variant,p.%3D,ENST00000313683,;PNMAL1,intron_variant,,ENST00000602246,;PNMAL1,intron_variant,,ENST00000438932,;	1521	44	45	SUCCESS
STRN4	29888	.	GRCh37	19	47231256	47231256	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs773782293	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	45	0	ENST00000263280.6:c.1048C>G	p.Arg350Gly	p.R350G	ENST00000263280	NM_013403.2	350	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS42581.1	1048	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGACGGC	NONE	.	.	hmmpanther:PTHR15653:SF1,hmmpanther:PTHR15653	.	.	ENSP00000375777	.	8/18	.	.	.	.	.	.	.	.	rs773782293	8/18	PASS	ENST00000391910	Transcript	.	.	ENSG00000090372	15721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	.	STRN4	HGNC	M0QYS2_HUMAN,Q59GV6_HUMAN,M0R2A7_HUMAN,M0R0P4_HUMAN,M0QXN2_HUMAN,F8VYA6_HUMAN,B3KPF6_HUMAN	.	UPI00006CA35B	SNV	STRN4,missense_variant,p.Arg231Gly,ENST00000539396,;STRN4,missense_variant,p.Arg350Gly,ENST00000263280,;STRN4,missense_variant,p.Arg350Gly,ENST00000391910,;STRN4,upstream_gene_variant,,ENST00000600615,;STRN4,downstream_gene_variant,,ENST00000593979,;STRN4,upstream_gene_variant,,ENST00000594287,;CTB-174O21.2,upstream_gene_variant,,ENST00000600716,;STRN4,non_coding_transcript_exon_variant,,ENST00000602223,;STRN4,non_coding_transcript_exon_variant,,ENST00000594357,;STRN4,downstream_gene_variant,,ENST00000602397,;STRN4,downstream_gene_variant,,ENST00000596016,;STRN4,missense_variant,p.Arg200Gly,ENST00000600358,;STRN4,3_prime_UTR_variant,,ENST00000435164,;STRN4,non_coding_transcript_exon_variant,,ENST00000595357,;STRN4,non_coding_transcript_exon_variant,,ENST00000594847,;STRN4,non_coding_transcript_exon_variant,,ENST00000599231,;STRN4,non_coding_transcript_exon_variant,,ENST00000601631,;STRN4,downstream_gene_variant,,ENST00000594704,;STRN4,upstream_gene_variant,,ENST00000594581,;STRN4,upstream_gene_variant,,ENST00000598074,;	1499	45	43	SUCCESS
LILRB1	10859	.	GRCh37	19	55148029	55148029	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370268778	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	120	0	ENST00000324602.7:c.1738C>T	p.Pro580Ser	p.P580S	ENST00000324602	NM_001278399.1	580	Cct/Tct	0	G:0	.	.	.	.	T	P/S	protein_coding	YES	CCDS42614.1	1738	MUTECT|MUSE|VARSCANS	.	CTCCTCCTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89	.	G:0.0001	ENSP00000315997	.	14/15	.	.	.	.	.	.	.	.	rs370268778,COSM1631087	14/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.624)	.	deleterious(0.04)	0,1	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,missense_variant,p.Pro562Ser,ENST00000396317,;LILRB1,missense_variant,p.Pro578Ser,ENST00000396331,;LILRB1,missense_variant,p.Pro580Ser,ENST00000396315,;LILRB1,missense_variant,p.Pro629Ser,ENST00000427581,;LILRB1,missense_variant,p.Pro579Ser,ENST00000396327,;LILRB1,missense_variant,p.Pro562Ser,ENST00000418536,;LILRB1,missense_variant,p.Pro578Ser,ENST00000434867,;LILRB1,missense_variant,p.Pro580Ser,ENST00000324602,;LILRB1,missense_variant,p.Pro579Ser,ENST00000396332,;LILRB1,missense_variant,p.Pro578Ser,ENST00000396321,;LILRB1,3_prime_UTR_variant,,ENST00000448689,;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	1963	120	105	SUCCESS
ZNF324B	388569	.	GRCh37	19	58967301	58967301	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	70	1	ENST00000336614.4:c.990G>T	p.Arg330=	p.R330=	ENST00000336614	NM_207395.2	330	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33138.1	990	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGCGGCACCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337473	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336614	Transcript	.	.	ENSG00000249471	33107	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z324B_HUMAN	ZNF324B	HGNC	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN	.	UPI000022AA2D	SNV	ZNF324B,synonymous_variant,p.%3D,ENST00000336614,;ZNF324B,synonymous_variant,p.%3D,ENST00000391696,;ZNF324B,synonymous_variant,p.%3D,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000599194,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000598244,;	1097	71	77	SUCCESS
R3HDM4	91300	.	GRCh37	19	900139	900139	+	synonymous_variant	Silent	SNP	G	G	A	rs199817764	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	56	0	ENST00000361574.5:c.483C>T	p.Pro161=	p.P161=	ENST00000361574	NM_138774.3	161	ccC/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS12048.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGGGGTC	BUFFER|p.A162T|c.484G>A|3	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32019:SF2,hmmpanther:PTHR32019,Pfam_domain:PF13902,Superfamily_domains:SSF82708	A:0.006	.	ENSP00000355385	A:0	5/8	.	.	.	.	.	.	.	.	rs199817764	5/8	common_in_exac	ENST00000361574	Transcript	.	A:0.0016	ENSG00000198858	28270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	R3HD4_HUMAN	R3HDM4	HGNC	.	.	UPI00001B50F1	SNV	R3HDM4,synonymous_variant,p.%3D,ENST00000587975,;R3HDM4,synonymous_variant,p.%3D,ENST00000361574,;R3HDM4,3_prime_UTR_variant,,ENST00000590454,;R3HDM4,3_prime_UTR_variant,,ENST00000589428,;R3HDM4,non_coding_transcript_exon_variant,,ENST00000586080,;R3HDM4,downstream_gene_variant,,ENST00000591829,;R3HDM4,downstream_gene_variant,,ENST00000589445,;R3HDM4,downstream_gene_variant,,ENST00000590259,;	557	56	42	SUCCESS
LCE4A	199834	.	GRCh37	1	152681721	152681721	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776211524	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	30	78	1	ENST00000335535.3:c.170G>A	p.Gly57Asp	p.G57D	ENST00000335535	NM_178356.2	57	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1022.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF25,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000357766	.	2/2	.	.	.	.	.	.	.	.	rs776211524	2/2	PASS	ENST00000368777	Transcript	.	.	ENSG00000187170	16613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.17)	.	LCE4A_HUMAN	LCE4A	HGNC	.	.	UPI0000192763	SNV	LCE4A,missense_variant,p.Gly57Asp,ENST00000368777,;LCE4A,missense_variant,p.Gly57Asp,ENST00000335535,;	426	79	108	SUCCESS
PMVK	10654	.	GRCh37	1	154909135	154909135	+	synonymous_variant	Silent	SNP	C	C	A	rs148862572	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	50	2	ENST00000368467.3:c.27G>T	p.Arg9=	p.R9=	ENST00000368467	NM_006556.3	9	cgG/cgT	0	A:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS1073.1	27	SOMATICSNIPER|VARSCANS	.	ACCAGCCGCGG	NONE	.	.	hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,PIRSF_domain:PIRSF036639	.	A:0	ENSP00000357452	.	1/5	.	.	.	.	.	.	.	.	rs148862572	1/5	PASS	ENST00000368467	Transcript	.	.	ENSG00000163344	9141	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PMVK_HUMAN	PMVK	HGNC	Q6FGV9_HUMAN	.	UPI000013E263	SNV	PMVK,synonymous_variant,p.%3D,ENST00000368467,;RP11-307C12.13,upstream_gene_variant,,ENST00000604546,;	333	52	57	SUCCESS
PMVK	10654	.	GRCh37	1	154909136	154909136	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	50	2	ENST00000368467.3:c.26G>T	p.Arg9Leu	p.R9L	ENST00000368467	NM_006556.3	9	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS1073.1	26	SOMATICSNIPER|VARSCANS	.	CCAGCCGCGGG	NONE	.	.	hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,PIRSF_domain:PIRSF036639	.	.	ENSP00000357452	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000368467	Transcript	.	.	ENSG00000163344	9141	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.08)	.	PMVK_HUMAN	PMVK	HGNC	Q6FGV9_HUMAN	.	UPI000013E263	SNV	PMVK,missense_variant,p.Arg9Leu,ENST00000368467,;RP11-307C12.13,upstream_gene_variant,,ENST00000604546,;	332	52	57	SUCCESS
SLC45A3	85414	.	GRCh37	1	205632672	205632672	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	46	0	ENST00000367145.3:c.247G>A	p.Gly83Ser	p.G83S	ENST00000367145	NM_033102.2	83	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1458.1	247	MUTECT|MUSE	.	GCGGCCATAGC	NONE	.	.	hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000356113	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000367145	Transcript	.	.	ENSG00000158715	8642	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S45A3_HUMAN	SLC45A3	HGNC	Q658X7_HUMAN,A8K2U9_HUMAN	.	UPI0000039836	SNV	SLC45A3,missense_variant,p.Gly83Ser,ENST00000367145,;SLC45A3,upstream_gene_variant,,ENST00000460934,;	543	46	53	SUCCESS
SLFNL1	200172	.	GRCh37	1	41483397	41483397	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	77	2	ENST00000302946.8:c.867G>A	p.Leu289=	p.L289=	ENST00000302946		289	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS460.1	867	SOMATICSNIPER|VARSCANS	.	CCCTGCAGGAT	NONE	.	.	Pfam_domain:PF04326,hmmpanther:PTHR12155:SF19,hmmpanther:PTHR12155	.	.	ENSP00000352299	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000359345	Transcript	.	.	ENSG00000171790	26313	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLNL1_HUMAN	SLFNL1	HGNC	.	.	UPI000013E83F	SNV	SLFNL1,synonymous_variant,p.%3D,ENST00000302946,;SLFNL1,synonymous_variant,p.%3D,ENST00000397197,;SLFNL1,synonymous_variant,p.%3D,ENST00000372613,;SLFNL1,synonymous_variant,p.%3D,ENST00000439569,;SLFNL1,synonymous_variant,p.%3D,ENST00000372611,;SLFNL1,synonymous_variant,p.%3D,ENST00000359345,;	3444	79	68	SUCCESS
C8B	732	.	GRCh37	1	57406665	57406665	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766702799	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	36	0	ENST00000371237.4:c.1255A>G	p.Met419Val	p.M419V	ENST00000371237	NM_000066.3	419	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS30730.1	1255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGGTGT	BUFFER|p.D417N|c.1249G>A|3	.	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF313,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000360281	.	9/12	.	.	.	.	.	.	.	.	rs766702799	9/12	PASS	ENST00000371237	Transcript	.	.	ENSG00000021852	1353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.45)	.	CO8B_HUMAN	C8B	HGNC	F5H7G1_HUMAN	.	UPI000013C9B2	SNV	C8B,missense_variant,p.Met357Val,ENST00000535057,;C8B,missense_variant,p.Met367Val,ENST00000543257,;C8B,missense_variant,p.Met419Val,ENST00000371237,;	1322	36	58	SUCCESS
ABCA4	24	.	GRCh37	1	94564351	94564351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1265780497	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	50	0	ENST00000370225.3:c.767T>C	p.Val256Ala	p.V256A	ENST00000370225	NM_000350.2	256	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS747.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCACACGG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	6/50	.	.	.	.	.	.	.	.	.	6/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	tolerated(0.62)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Val256Ala,ENST00000370225,;ABCA4,missense_variant,p.Val256Ala,ENST00000535735,;	854	50	48	SUCCESS
ADRA1D	146	.	GRCh37	20	4228867	4228867	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs140080149	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	91	1	ENST00000379453.4:c.738C>A	p.Cys246Ter	p.C246*	ENST00000379453	NM_000678.3	246	tgC/tgA	0	A:0.0096	A:0.0106	.	A:0	.	T	C/*	protein_coding	YES	CCDS13079.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCGCAGAA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,PROSITE_profiles:PS50262	A:0	A:0	ENSP00000368766	A:0	1/2	.	.	.	.	.	.	.	.	rs140080149	1/2	PASS	ENST00000379453	Transcript	.	A:0.0028	ENSG00000171873	280	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,stop_gained,p.Cys246Ter,ENST00000379453,;	855	92	80	SUCCESS
SLC9A8	23315	.	GRCh37	20	48497559	48497559	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	32	107	0	ENST00000361573.2:c.1257C>T	p.Ile419=	p.I419=	ENST00000361573		419	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS58774.1	1305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCATGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000416418	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000417961	Transcript	.	.	ENSG00000197818	20728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9A8_HUMAN	SLC9A8	HGNC	B7Z3B1_HUMAN,B4DIV9_HUMAN	.	UPI00017A7E08	SNV	SLC9A8,synonymous_variant,p.%3D,ENST00000541138,;SLC9A8,synonymous_variant,p.%3D,ENST00000539601,;SLC9A8,synonymous_variant,p.%3D,ENST00000417961,;SLC9A8,synonymous_variant,p.%3D,ENST00000361573,;	1515	107	105	SUCCESS
PHACTR3	116154	.	GRCh37	20	58349512	58349512	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	70	1	ENST00000371015.1:c.1141G>A	p.Asp381Asn	p.D381N	ENST00000371015	NM_080672.4	381	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS13480.1	1141	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGACGAG	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0.03)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Asp340Asn,ENST00000355648,;PHACTR3,missense_variant,p.Asp340Asn,ENST00000541461,;PHACTR3,missense_variant,p.Asp270Asn,ENST00000361300,;PHACTR3,missense_variant,p.Asp340Asn,ENST00000395636,;PHACTR3,missense_variant,p.Asp381Asn,ENST00000371015,;PHACTR3,missense_variant,p.Asp270Asn,ENST00000395639,;PHACTR3,missense_variant,p.Asp378Asn,ENST00000359926,;	1608	71	51	SUCCESS
ZNF512B	57473	.	GRCh37	20	62594086	62594086	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	75	0	ENST00000217130.3:c.2017G>A	p.Gly673Ser	p.G673S	ENST00000217130		673	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13548.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCCAGCG	NONE	.	.	hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3	.	.	ENSP00000393795	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.19)	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	SNV	ZNF512B,missense_variant,p.Gly673Ser,ENST00000450537,;ZNF512B,missense_variant,p.Gly673Ser,ENST00000217130,;ZNF512B,missense_variant,p.Gly673Ser,ENST00000369888,;	2078	75	65	SUCCESS
EIF4ENIF1	56478	.	GRCh37	22	31845450	31845450	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	70	0	ENST00000330125.5:c.1652T>G	p.Leu551Trp	p.L551W	ENST00000330125	NM_019843.3	551	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS13898.1	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAAGCTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF10477,hmmpanther:PTHR12269	.	.	ENSP00000380659	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000397525	Transcript	.	.	ENSG00000184708	16687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	4ET_HUMAN	EIF4ENIF1	HGNC	B1AKL6_HUMAN,B1AKL5_HUMAN	.	UPI0000124F14	SNV	EIF4ENIF1,missense_variant,p.Leu206Trp,ENST00000382180,;EIF4ENIF1,missense_variant,p.Leu376Trp,ENST00000344710,;EIF4ENIF1,missense_variant,p.Leu551Trp,ENST00000397525,;EIF4ENIF1,missense_variant,p.Leu527Trp,ENST00000397523,;EIF4ENIF1,missense_variant,p.Leu551Trp,ENST00000330125,;EIF4ENIF1,intron_variant,,ENST00000418321,;RP11-247I13.11,upstream_gene_variant,,ENST00000464523,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000495101,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000487671,;DRG1,intron_variant,,ENST00000548143,;EIF4ENIF1,upstream_gene_variant,,ENST00000445424,;	1876	70	69	SUCCESS
EP300	2033	.	GRCh37	22	41574846	41574846	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	84	0	ENST00000263253.7:c.7131T>C	p.Ala2377=	p.A2377=	ENST00000263253	NM_001429.3	2377	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS14010.1	7131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCTAGCAA	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,synonymous_variant,p.%3D,ENST00000263253,;RP1-85F18.5,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;	8350	84	59	SUCCESS
CELSR1	9620	.	GRCh37	22	46782348	46782348	+	synonymous_variant	Silent	SNP	G	G	A	rs147425309	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	51	73	1	ENST00000262738.3:c.6690C>T	p.Asn2230=	p.N2230=	ENST00000262738	NM_014246.1	2230	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS14076.1	6690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACGTTGCG	NONE	byCluster	.	Pfam_domain:PF12003,hmmpanther:PTHR24026	.	A:0.0001	ENSP00000262738	.	19/35	.	.	.	.	.	.	.	.	rs147425309	19/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,synonymous_variant,p.%3D,ENST00000262738,;	6690	74	89	SUCCESS
SNTG2	54221	.	GRCh37	2	1204904	1204904	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200559818	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	33	52	2	ENST00000308624.5:c.707C>A	p.Thr236Lys	p.T236K	ENST00000308624	NM_018968.3	236	aCg/aAg	0	T:0.0003	.	.	.	.	A	T/K	protein_coding	YES	CCDS46220.1	707	SOMATICSNIPER|VARSCANS	.	CGGAACGGAAA	NONE	byCluster	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	T:0.0001	ENSP00000311837	.	9/17	.	.	.	.	.	.	.	.	rs200559818,COSM716043	9/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.046)	.	deleterious(0.02)	0,1	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Thr236Lys,ENST00000308624,;SNTG2,missense_variant,p.Thr109Lys,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000467759,;SNTG2,non_coding_transcript_exon_variant,,ENST00000463442,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;SNTG2,non_coding_transcript_exon_variant,,ENST00000498321,;SNTG2,intron_variant,,ENST00000475201,;	836	54	59	SUCCESS
BAZ2B	29994	.	GRCh37	2	160206490	160206490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372658436	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	10	124	0	ENST00000392783.2:c.4592C>T	p.Thr1531Ile	p.T1531I	ENST00000392783	NM_013450.2	1531	aCt/aTt	0	C:0	.	.	.	.	A	T/I	protein_coding	YES	CCDS2209.2	4592	MUTECT|MUSE|VARSCANS	.	AACCAGTATTA	NONE	byCluster	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144	.	C:0.0001	ENSP00000376534	.	28/37	.	.	.	.	.	.	.	.	rs372658436	28/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.056)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Thr1497Ile,ENST00000355831,;BAZ2B,missense_variant,p.Thr1495Ile,ENST00000392782,;BAZ2B,missense_variant,p.Thr1431Ile,ENST00000343439,;BAZ2B,missense_variant,p.Thr1531Ile,ENST00000392783,;BAZ2B,upstream_gene_variant,,ENST00000426648,;BAZ2B,upstream_gene_variant,,ENST00000474437,;	5088	124	124	SUCCESS
KCNS3	3790	.	GRCh37	2	18113275	18113275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	78	2	ENST00000304101.4:c.1000G>T	p.Gly334Cys	p.G334C	ENST00000304101	NM_002252.3	334	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS1692.1	1000	SOMATICSNIPER|VARSCANS	.	CTGTGGGCATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000385968	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000403915	Transcript	.	.	ENSG00000170745	6302	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNS3_HUMAN	KCNS3	HGNC	C9J187_HUMAN	.	UPI000013E93A	SNV	KCNS3,missense_variant,p.Gly334Cys,ENST00000304101,;KCNS3,missense_variant,p.Gly334Cys,ENST00000403915,;KCNS3,downstream_gene_variant,,ENST00000419802,;KCNS3,intron_variant,,ENST00000465292,;	1451	80	95	SUCCESS
C2orf47	0	.	GRCh37	2	200820961	200820961	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	30	0	ENST00000295079.2:c.440G>T	p.Gly147Val	p.G147V	ENST00000295079	NM_024520.2	147	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2329.1	440	MUTECT|MUSE	.	CGAGGGAGCGA	NONE	.	.	hmmpanther:PTHR13333,hmmpanther:PTHR13333:SF5	.	.	ENSP00000295079	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000295079	Transcript	.	.	ENSG00000162972	26198	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	CB047_HUMAN	C2orf47	HGNC	.	.	UPI000006F16D	SNV	C2orf47,missense_variant,p.Gly147Val,ENST00000295079,;C2orf47,missense_variant,p.Gly147Val,ENST00000392290,;C2orf47,missense_variant,p.Gly140Val,ENST00000435773,;TYW5,upstream_gene_variant,,ENST00000354611,;C2orf47,upstream_gene_variant,,ENST00000469156,;TYW5,upstream_gene_variant,,ENST00000452512,;C2orf69,downstream_gene_variant,,ENST00000491721,;TYW5,upstream_gene_variant,,ENST00000483328,;TYW5,upstream_gene_variant,,ENST00000493181,;TYW5,upstream_gene_variant,,ENST00000441832,;	762	30	17	SUCCESS
CYP1B1	1545	.	GRCh37	2	38301745	38301745	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	9	190	0	ENST00000260630.3:c.787C>T	p.Gln263Ter	p.Q263*	ENST00000260630	NM_000104.3	263	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1793.1	787	MUTECT|MUSE	.	GAGCTGCTCGA	NONE	.	.	hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF0,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000260630	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000260630	Transcript	.	.	ENSG00000138061	2597	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP1B1_HUMAN	CYP1B1	HGNC	Q53TK1_HUMAN,D0EZN8_HUMAN,B8YIA8_HUMAN,B8YIA4_HUMAN	.	UPI000006222C	SNV	CYP1B1,stop_gained,p.Gln263Ter,ENST00000407341,;CYP1B1,stop_gained,p.Gln263Ter,ENST00000260630,;CYP1B1-AS1,upstream_gene_variant,,ENST00000589303,;CYP1B1-AS1,upstream_gene_variant,,ENST00000431999,;CYP1B1,intron_variant,,ENST00000462864,;CYP1B1,intron_variant,,ENST00000494864,;CYP1B1,downstream_gene_variant,,ENST00000490576,;CYP1B1,upstream_gene_variant,,ENST00000492443,;CYP1B1,upstream_gene_variant,,ENST00000491456,;	1189	190	175	SUCCESS
CHST13	166012	.	GRCh37	3	126260674	126260674	+	synonymous_variant	Silent	SNP	G	G	A	rs778742193	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	42	0	ENST00000319340.2:c.279G>A	p.Pro93=	p.P93=	ENST00000319340	NM_152889.2	93	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3039.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGAGGA	NONE	.	.	hmmpanther:PTHR12137:SF31,hmmpanther:PTHR12137	.	.	ENSP00000317404	.	3/3	.	.	.	.	.	.	.	.	rs778742193	3/3	PASS	ENST00000319340	Transcript	.	.	ENSG00000180767	21755	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTD_HUMAN	CHST13	HGNC	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN	.	UPI00000492E5	SNV	CHST13,synonymous_variant,p.%3D,ENST00000319340,;C3orf22,intron_variant,,ENST00000505070,;	329	42	43	SUCCESS
ARL14	80117	.	GRCh37	3	160395171	160395171	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	11	199	0	ENST00000320767.2:c.37C>T	p.Gln13Ter	p.Q13*	ENST00000320767	NM_025047.2	13	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3192.1	37	MUTECT|MUSE	.	CCAAACAAGCC	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF29,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	.	.	ENSP00000323847	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320767	Transcript	.	.	ENSG00000179674	22974	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARL14_HUMAN	ARL14	HGNC	.	.	UPI000007256C	SNV	ARL14,stop_gained,p.Gln13Ter,ENST00000320767,;	224	199	200	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64085071	64085071	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs148689951	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	60	1	ENST00000295902.6:c.2191A>G	p.Ser731Gly	p.S731G	ENST00000295902	NM_198859.3	731	Agc/Ggc	0	C:0.0032	C:0.0023	.	C:0	.	C	S/G	protein_coding	YES	CCDS2902.1	2191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GAAGCTCCGCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218	C:0	C:0	ENSP00000295902	C:0	8/8	.	.	.	.	.	.	.	.	rs148689951	8/8	PASS	ENST00000295902	Transcript	.	C:0.0006	ENSG00000163637	20340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	C:0	tolerated(0.49)	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,missense_variant,p.Ser731Gly,ENST00000295902,;PRICKLE2,missense_variant,p.Ser787Gly,ENST00000564377,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000476308,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;	2777	61	69	SUCCESS
ANXA10	11199	.	GRCh37	4	169108554	169108554	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747923178	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	320	38	397	1	ENST00000359299.3:c.944C>T	p.Ala315Val	p.A315V	ENST00000359299	NM_007193.4	315	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34096.1	944	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGCCATCT	NONE	byFrequency	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF100,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR01809,Prints_domain:PR00196	.	.	ENSP00000352248	.	12/12	.	.	.	.	.	.	.	.	rs747923178	12/12	PASS	ENST00000359299	Transcript	.	.	ENSG00000109511	534	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.672)	.	tolerated(0.14)	.	ANX10_HUMAN	ANXA10	HGNC	.	.	UPI0000169E98	SNV	ANXA10,missense_variant,p.Ala315Val,ENST00000359299,;ANXA10,non_coding_transcript_exon_variant,,ENST00000507278,;	1130	398	358	SUCCESS
NOA1	84273	.	GRCh37	4	57842963	57842963	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	79	0	ENST00000264230.4:c.789G>A	p.Arg263=	p.R263=	ENST00000264230	NM_032313.2	263	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3510.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCCTCTG	NONE	.	.	PROSITE_profiles:PS51721,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF33,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000264230	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000264230	Transcript	.	.	ENSG00000084092	28473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOA1_HUMAN	NOA1	HGNC	.	.	UPI000006DAEE	SNV	NOA1,synonymous_variant,p.%3D,ENST00000264230,;POLR2B,upstream_gene_variant,,ENST00000433463,;POLR2B,upstream_gene_variant,,ENST00000450656,;POLR2B,upstream_gene_variant,,ENST00000441246,;POLR2B,upstream_gene_variant,,ENST00000431623,;POLR2B,upstream_gene_variant,,ENST00000381227,;POLR2B,upstream_gene_variant,,ENST00000314595,;POLR2B,upstream_gene_variant,,ENST00000495311,;POLR2B,upstream_gene_variant,,ENST00000497845,;	2027	79	58	SUCCESS
C5orf60	285679	.	GRCh37	5	179069453	179069453	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755608545	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	62	0	ENST00000448248.2:c.721C>T	p.Arg241Cys	p.R241C	ENST00000448248	NM_001142306.1	241	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS47353.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCGGGACC	NONE	.	.	.	.	.	ENSP00000404583	.	5/6	.	.	.	.	.	.	.	.	rs755608545	5/6	PASS	ENST00000448248	Transcript	.	.	ENSG00000204661	27753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious_low_confidence(0.01)	.	CE060_HUMAN	C5orf60	HGNC	.	.	UPI00004191D3	SNV	C5orf60,missense_variant,p.Arg241Cys,ENST00000448248,;C5orf60,downstream_gene_variant,,ENST00000506142,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,intron_variant,,ENST00000512899,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,;C5orf60,downstream_gene_variant,,ENST00000513845,;	747	62	45	SUCCESS
IRX2	153572	.	GRCh37	5	2751518	2751518	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1037197794	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	29	0	ENST00000302057.5:c.10C>A	p.Pro4Thr	p.P4T	ENST00000302057	NM_033267.4	4	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3868.1	10	SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGGTAGG	NONE	.	.	hmmpanther:PTHR11211:SF15,hmmpanther:PTHR11211	.	.	ENSP00000372056	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000382611	Transcript	.	.	ENSG00000170561	14359	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	IRX2_HUMAN	IRX2	HGNC	.	.	UPI00001B6456	SNV	IRX2,missense_variant,p.Pro4Thr,ENST00000382611,;IRX2,missense_variant,p.Pro4Thr,ENST00000302057,;C5orf38,upstream_gene_variant,,ENST00000334000,;C5orf38,upstream_gene_variant,,ENST00000457752,;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000515640,;IRX2,intron_variant,,ENST00000502957,;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	259	29	20	SUCCESS
NIPBL	25836	.	GRCh37	5	36976361	36976361	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1554015273	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	50	1	ENST00000282516.8:c.1352C>T	p.Ser451Phe	p.S451F	ENST00000282516	NM_133433.3	451	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3920.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	9/47	.	.	.	.	.	.	.	.	.	9/47	PASS	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.07)	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,missense_variant,p.Ser451Phe,ENST00000448238,;NIPBL,missense_variant,p.Ser451Phe,ENST00000282516,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000505998,;	1851	51	47	SUCCESS
PPP1R10	5514	.	GRCh37	6	30574619	30574619	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	176	1	ENST00000376511.2:c.397G>A	p.Ala133Thr	p.A133T	ENST00000376511	NM_002714.3	133	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4681.1	397	MUTECT|MUSE	.	TGAGGCCAATT	NONE	.	.	Superfamily_domains:SSF47676,SMART_domains:SM00509,Pfam_domain:PF08711,Gene3D:1.20.930.10,hmmpanther:PTHR12506,PROSITE_profiles:PS51319	.	.	ENSP00000365694	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000376511	Transcript	.	.	ENSG00000204569	9284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PP1RA_HUMAN	PPP1R10	HGNC	Q2L6I0_HUMAN	.	UPI000000D73C	SNV	PPP1R10,missense_variant,p.Ala133Thr,ENST00000376511,;PPP1R10,downstream_gene_variant,,ENST00000484449,;PPP1R10,upstream_gene_variant,,ENST00000468181,;PPP1R10,upstream_gene_variant,,ENST00000461593,;PPP1R10,upstream_gene_variant,,ENST00000496955,;PPP1R10,upstream_gene_variant,,ENST00000476704,;	950	177	152	SUCCESS
ZNF451	26036	.	GRCh37	6	57018812	57018812	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	71	1	ENST00000370706.4:c.3037G>A	p.Ala1013Thr	p.A1013T	ENST00000370706	NM_001031623.2	1013	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43477.1	3037	MUTECT|MUSE	.	TGTGTGCCTTG	NONE	.	.	.	.	.	ENSP00000359740	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.02)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Ala965Thr,ENST00000357489,;ZNF451,missense_variant,p.Ala1013Thr,ENST00000370706,;ZNF451,missense_variant,p.Ala1013Thr,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000589263,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586466,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,intron_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000508548,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,downstream_gene_variant,,ENST00000444273,;	3281	72	59	SUCCESS
PRSS35	167681	.	GRCh37	6	84233979	84233979	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	62	1	ENST00000369700.3:c.819G>A	p.Leu273=	p.L273=	ENST00000369700	NM_153362.2	273	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4999.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGGACTA	NONE	.	.	Superfamily_domains:SSF50494,Gene3D:2.40.10.10,hmmpanther:PTHR15462:SF7,hmmpanther:PTHR15462	.	.	ENSP00000440870	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000536636	Transcript	.	.	ENSG00000146250	21387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS35_HUMAN	PRSS35	HGNC	.	.	UPI000006D2C7	SNV	PRSS35,synonymous_variant,p.%3D,ENST00000369700,;PRSS35,synonymous_variant,p.%3D,ENST00000536636,;	1164	63	54	SUCCESS
RAPGEF5	9771	.	GRCh37	7	22347988	22347988	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	54	0	ENST00000344041.6:c.191T>A	p.Leu64His	p.L64H	ENST00000344041	NM_012294.3	64	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS55093.1	191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGAGAGGC	NONE	.	.	hmmpanther:PTHR23113:SF26,hmmpanther:PTHR23113,Gene3D:1.10.10.10,Superfamily_domains:SSF46785	.	.	ENSP00000343656	.	5/26	.	.	.	.	.	.	.	.	.	5/26	PASS	ENST00000344041	Transcript	.	.	ENSG00000136237	16862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.39)	.	.	RAPGEF5	HGNC	C9JBS6_HUMAN,A8MQ07_HUMAN	.	UPI0000EA87E4	SNV	RAPGEF5,missense_variant,p.Leu64His,ENST00000344041,;RAPGEF5,missense_variant,p.Leu217His,ENST00000405243,;RAPGEF5,downstream_gene_variant,,ENST00000471484,;	504	54	60	SUCCESS
AC011738.4	0	.	GRCh37	7	43548503	43548503	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	39	1	ENST00000436105.1:n.2740C>T		p.*914*	ENST00000436105				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5469.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTGGGTGCAA	NONE	.	.	.	.	.	ENSP00000379228	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODIFIER	23/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,intron_variant,,ENST00000453890,;HECW1,intron_variant,,ENST00000429529,;HECW1,intron_variant,,ENST00000395891,;AC011738.4,non_coding_transcript_exon_variant,,ENST00000436105,;	.	40	34	SUCCESS
ARHGEF10	9639	.	GRCh37	8	1871942	1871942	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	125	0	ENST00000398564.1:c.2465C>T	p.Ser822Phe	p.S822F	ENST00000398564		822	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS34794.1	2390	MUTECT|MUSE|VARSCANS	.	CAGATCTGGGC	NONE	.	.	hmmpanther:PTHR12877:SF14,hmmpanther:PTHR12877,Superfamily_domains:SSF50729	.	.	ENSP00000340297	.	21/29	.	.	.	.	.	.	.	.	.	21/29	PASS	ENST00000349830	Transcript	1	.	ENSG00000104728	14103	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.787)	.	deleterious(0)	.	ARHGA_HUMAN	ARHGEF10	HGNC	.	.	UPI00005054FE	SNV	ARHGEF10,missense_variant,p.Ser470Phe,ENST00000522435,;ARHGEF10,missense_variant,p.Ser822Phe,ENST00000262112,;ARHGEF10,missense_variant,p.Ser822Phe,ENST00000398564,;ARHGEF10,missense_variant,p.Ser797Phe,ENST00000349830,;ARHGEF10,missense_variant,p.Ser759Phe,ENST00000520359,;ARHGEF10,missense_variant,p.Ser821Phe,ENST00000518288,;ARHGEF10,downstream_gene_variant,,ENST00000524212,;ARHGEF10,splice_region_variant,,ENST00000523711,;ARHGEF10,splice_region_variant,,ENST00000519641,;	2575	125	102	SUCCESS
CHMP7	91782	.	GRCh37	8	23104433	23104433	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	51	0	ENST00000313219.7:c.225G>A	p.Arg75=	p.R75=	ENST00000313219		75	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6040.1	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGGACTT	NONE	.	.	hmmpanther:PTHR22761:SF6,hmmpanther:PTHR22761	.	.	ENSP00000380794	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000397677	Transcript	.	.	ENSG00000147457	28439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHMP7_HUMAN	CHMP7	HGNC	E5RJI3_HUMAN,B3KRZ9_HUMAN,B3KMN6_HUMAN	.	UPI0000049FB7	SNV	CHMP7,synonymous_variant,p.%3D,ENST00000397677,;CHMP7,synonymous_variant,p.%3D,ENST00000519984,;CHMP7,synonymous_variant,p.%3D,ENST00000313219,;CHMP7,synonymous_variant,p.%3D,ENST00000519414,;CHMP7,synonymous_variant,p.%3D,ENST00000519503,;CHMP7,non_coding_transcript_exon_variant,,ENST00000519529,;CHMP7,intron_variant,,ENST00000517325,;	873	52	26	SUCCESS
ADAM2	2515	.	GRCh37	8	39695755	39695755	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs770277829	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	56	1	ENST00000265708.4:c.-51C>T		p.*17*	ENST00000265708	NM_001464.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34884.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGGGCAGT	NONE	byFrequency	.	.	.	.	ENSP00000265708	.	1/21	.	.	.	.	.	.	.	.	rs770277829	1/21	PASS	ENST00000265708	Transcript	.	.	ENSG00000104755	198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAM2_HUMAN	ADAM2	HGNC	.	.	UPI00001254C2	SNV	ADAM2,5_prime_UTR_variant,,ENST00000265708,;ADAM2,upstream_gene_variant,,ENST00000521880,;ADAM2,upstream_gene_variant,,ENST00000347580,;ADAM2,upstream_gene_variant,,ENST00000379853,;ADAM2,upstream_gene_variant,,ENST00000523181,;	54	57	56	SUCCESS
PRKDC	5591	.	GRCh37	8	48732069	48732069	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	19	88	0	ENST00000314191.2:c.9336T>C		p.X3112_splice	ENST00000314191	NM_006904.6	3112	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	.	9336	RADIA|SOMATICSNIPER|VARSCANS	.	GAATAATTCTT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF02259	.	.	ENSP00000313420	.	68/87	.	.	.	.	.	.	.	.	.	68/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,synonymous_variant,p.%3D,ENST00000338368,;PRKDC,synonymous_variant,p.%3D,ENST00000314191,;PRKDC,splice_region_variant,,ENST00000518216,;PRKDC,splice_region_variant,,ENST00000523565,;	9393	88	86	SUCCESS
LRCH2	57631	.	GRCh37	X	114422835	114422835	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	562	17	614	1	ENST00000317135.8:c.448C>T	p.Pro150Ser	p.P150S	ENST00000317135	NM_020871.3	150	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS48155.1	448	MUTECT|MUSE	.	TTCAGGAATGG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF409,hmmpanther:PTHR23155,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000325091	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000317135	Transcript	.	.	ENSG00000130224	29292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRCH2_HUMAN	LRCH2	HGNC	.	.	UPI000022DB30	SNV	LRCH2,missense_variant,p.Pro150Ser,ENST00000538422,;LRCH2,missense_variant,p.Pro150Ser,ENST00000317135,;RBMXL3,upstream_gene_variant,,ENST00000424776,;	479	615	579	SUCCESS
SHROOM4	57477	.	GRCh37	X	50378093	50378093	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	72	0	ENST00000289292.7:c.980G>A	p.Cys327Tyr	p.C327Y	ENST00000289292		327	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS35277.1	980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCAACAG	NONE	.	.	hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012	.	.	ENSP00000365188	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,missense_variant,p.Cys327Tyr,ENST00000376020,;SHROOM4,missense_variant,p.Cys327Tyr,ENST00000289292,;SHROOM4,missense_variant,p.Cys211Tyr,ENST00000460112,;	1006	72	96	SUCCESS
MAGEE1	57692	.	GRCh37	X	75648383	75648383	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	136	0	ENST00000361470.2:c.60G>A	p.Ala20=	p.A20=	ENST00000361470	NM_020932.2	20	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14433.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGCACAA	NONE	.	.	.	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,synonymous_variant,p.%3D,ENST00000361470,;	338	136	121	SUCCESS
ARHGAP21	57584	.	GRCh37	10	24884698	24884698	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	38	130	2	ENST00000396432.2:c.3660C>T	p.Ser1220=	p.S1220=	ENST00000396432	NM_020824.3	1220	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS7144.2	3660	RADIA|SOMATICSNIPER|VARSCANS	.	AAACTGCTTAT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000379709	.	19/26	.	.	.	.	.	.	.	.	.	19/26	nonpreferredpair	ENST00000396432	Transcript	.	.	ENSG00000107863	23725	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHG21_HUMAN	ARHGAP21	HGNC	E7ESW5_HUMAN	.	UPI0001639C78	SNV	ARHGAP21,synonymous_variant,p.%3D,ENST00000418325,;ARHGAP21,synonymous_variant,p.%3D,ENST00000320481,;ARHGAP21,synonymous_variant,p.%3D,ENST00000418033,;ARHGAP21,synonymous_variant,p.%3D,ENST00000396432,;ARHGAP21,downstream_gene_variant,,ENST00000446003,;ARHGAP21,downstream_gene_variant,,ENST00000376410,;ARHGAP21,downstream_gene_variant,,ENST00000493154,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,upstream_gene_variant,,ENST00000482792,;	4147	132	128	SUCCESS
FAM208B	0	.	GRCh37	10	5788372	5788372	+	synonymous_variant	Silent	SNP	C	C	T	rs545198118	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	54	0	ENST00000328090.5:c.2988C>T	p.Tyr996=	p.Y996=	ENST00000328090	NM_017782.4	996	taC/taT	0	.	T:0	.	T:0	.	T	Y	protein_coding	YES	CCDS41485.1	2988	RADIA|MUTECT|MUSE	.	GTGTACGGCAC	NONE	by1000G	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10,Pfam_domain:PF12509	T:0	.	ENSP00000328426	T:0	15/21	.	.	.	.	.	.	.	.	rs545198118,COSM919089	15/21	nonpreferredpair	ENST00000328090	Transcript	.	T:0.0002	ENSG00000108021	23484	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	T:0.001	.	0,1	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,synonymous_variant,p.%3D,ENST00000328090,;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;	3613	54	48	SUCCESS
MYPN	84665	.	GRCh37	10	69881568	69881568	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	125	0	ENST00000358913.5:c.373C>T	p.Pro125Ser	p.P125S	ENST00000358913	NM_032578.3	125	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7275.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCCCACC	NONE	.	.	hmmpanther:PTHR19897	.	.	ENSP00000351790	.	2/20	.	.	.	.	.	.	.	.	.	2/20	nonpreferredpair	ENST00000358913	Transcript	1	.	ENSG00000138347	23246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.83)	.	MYPN_HUMAN	MYPN	HGNC	A5PKT7_HUMAN	.	UPI00002288CF	SNV	MYPN,missense_variant,p.Pro125Ser,ENST00000358913,;MYPN,missense_variant,p.Pro125Ser,ENST00000540630,;MYPN,missense_variant,p.Pro125Ser,ENST00000373675,;MYPN,intron_variant,,ENST00000354393,;	861	125	98	SUCCESS
FUT11	170384	.	GRCh37	10	75532078	75532078	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1303760484	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	27	0	ENST00000372841.3:c.-14C>T		p.*5*	ENST00000372841	NM_173540.2	101		0	.	.	.	.	.	T	A/T	protein_coding	YES	.	301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCTGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000472381	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000595757	Transcript	.	.	ENSG00000267964	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	AC022400.2	Clone_based_ensembl_gene	Q6ZTF3_HUMAN	.	UPI00001C0CDA	SNV	AC022400.2,missense_variant,p.Ala101Thr,ENST00000595757,;FUT11,5_prime_UTR_variant,,ENST00000372841,;FUT11,5_prime_UTR_variant,,ENST00000394790,;SEC24C,downstream_gene_variant,,ENST00000540668,;SEC24C,downstream_gene_variant,,ENST00000345254,;SEC24C,downstream_gene_variant,,ENST00000411652,;SEC24C,downstream_gene_variant,,ENST00000339365,;SEC24C,downstream_gene_variant,,ENST00000535742,;RMRPP1,downstream_gene_variant,,ENST00000517236,;SEC24C,downstream_gene_variant,,ENST00000496827,;FUT11,upstream_gene_variant,,ENST00000465695,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,downstream_gene_variant,,ENST00000465076,;	301	27	18	SUCCESS
OR6M1	390261	.	GRCh37	11	123676932	123676932	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	101	0	ENST00000309154.2:c.126C>A	p.Thr42=	p.T42=	ENST00000309154	NM_001005325.1	42	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31696.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGGTGAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000311038	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000309154	Transcript	.	.	ENSG00000196099	14711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6M1_HUMAN	OR6M1	HGNC	.	.	UPI000003FE18	SNV	OR6M1,synonymous_variant,p.%3D,ENST00000309154,;	164	101	95	SUCCESS
HEPACAM	220296	.	GRCh37	11	124794662	124794662	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs760592475	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	52	0	ENST00000298251.4:c.389C>G	p.Thr130Ser	p.T130S	ENST00000298251	NM_152722.4	130	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS8456.1	389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTGTCG	NONE	byFrequency	.	hmmpanther:PTHR19955:SF104,hmmpanther:PTHR19955,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000298251	.	2/7	.	.	.	.	.	.	.	.	rs760592475	2/7	nonpreferredpair	ENST00000298251	Transcript	.	.	ENSG00000165478	26361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	tolerated(0.06)	.	HECAM_HUMAN	HEPACAM	HGNC	.	.	UPI000013E4B5	SNV	HEPACAM,missense_variant,p.Thr130Ser,ENST00000298251,;HEPN1,downstream_gene_variant,,ENST00000408930,;HEPACAM,non_coding_transcript_exon_variant,,ENST00000528971,;HEPACAM,non_coding_transcript_exon_variant,,ENST00000526273,;	795	52	31	SUCCESS
SOX6	55553	.	GRCh37	11	16133385	16133385	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769930973	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	30	90	0	ENST00000528429.1:c.862G>A	p.Gly288Arg	p.G288R	ENST00000528429	NM_001145819.1	288	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS7821.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCCTGTT	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89	.	.	ENSP00000379644	.	7/16	.	.	.	.	.	.	.	.	rs769930973	7/16	nonpreferredpair	ENST00000396356	Transcript	.	.	ENSG00000110693	16421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	SOX6_HUMAN	SOX6	HGNC	E9PQL4_HUMAN,E9PQ67_HUMAN,E9PN02_HUMAN	.	UPI00001F9DE4	SNV	SOX6,missense_variant,p.Gly291Arg,ENST00000527619,;SOX6,missense_variant,p.Gly288Arg,ENST00000528429,;SOX6,missense_variant,p.Gly288Arg,ENST00000528252,;SOX6,missense_variant,p.Gly288Arg,ENST00000352083,;SOX6,missense_variant,p.Gly288Arg,ENST00000396356,;SOX6,missense_variant,p.Gly288Arg,ENST00000316399,;SOX6,non_coding_transcript_exon_variant,,ENST00000524650,;	940	90	105	SUCCESS
MRGPRX3	117195	.	GRCh37	11	18159634	18159634	+	synonymous_variant	Silent	SNP	G	G	T	rs768690835	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	38	0	ENST00000396275.2:c.885G>T	p.Leu295=	p.L295=	ENST00000396275	NM_054031.3	295	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7830.1	885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCAGGA	NONE	.	.	hmmpanther:PTHR11334:SF22,hmmpanther:PTHR11334,Prints_domain:PR02108	.	.	ENSP00000379571	.	3/3	.	.	.	.	.	.	.	.	rs768690835	3/3	nonpreferredpair	ENST00000396275	Transcript	.	.	ENSG00000179826	17980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRGX3_HUMAN	MRGPRX3	HGNC	E9PPY5_HUMAN	.	UPI0000061FCF	SNV	MRGPRX3,synonymous_variant,p.%3D,ENST00000396275,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;MRGPRX3,downstream_gene_variant,,ENST00000531264,;	1246	38	51	SUCCESS
OR5T2	219464	.	GRCh37	11	56000549	56000549	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1289622581	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	96	0	ENST00000313264.4:c.113T>C	p.Leu38Pro	p.L38P	ENST00000313264	NM_001004746.1	38	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31523.1	113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCTAGAACA	NONE	.	.	hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated_low_confidence(0.09)	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,missense_variant,p.Leu38Pro,ENST00000313264,;	189	96	83	SUCCESS
OR5T3	390154	.	GRCh37	11	56020266	56020268	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs1480193233	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	81	40	133	0	ENST00000303059.3:c.593_595del	p.Phe198del	p.F198del	ENST00000303059	NM_001004747.1	197	tcCTTc/tcc	0	.	.	.	.	.	-	SF/S	protein_coding	YES	CCDS31524.1	591-593	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGTCCTTCTGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305403	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000303059	Transcript	.	.	ENSG00000172489	15297	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR5T3_HUMAN	OR5T3	HGNC	.	.	UPI0000061E96	deletion	OR5T3,inframe_deletion,p.Phe198del,ENST00000303059,;	591-593	133	121	SUCCESS
TMEM132A	54972	.	GRCh37	11	60694685	60694685	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	24	1	ENST00000453848.2:c.110G>T	p.Gly37Val	p.G37V	ENST00000453848		37	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7997.1	110	SOMATICSNIPER|VARSCANS	.	CTGTGGCCAGG	NONE	.	.	hmmpanther:PTHR13388:SF6,hmmpanther:PTHR13388	.	.	ENSP00000005286	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000005286	Transcript	.	.	ENSG00000006118	31092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.189)	.	tolerated(0.07)	.	T132A_HUMAN	TMEM132A	HGNC	F5H765_HUMAN	.	UPI0000190977	SNV	TMEM132A,missense_variant,p.Gly37Val,ENST00000453848,;TMEM132A,missense_variant,p.Gly37Val,ENST00000005286,;TMEM132A,5_prime_UTR_variant,,ENST00000544065,;TMEM132A,upstream_gene_variant,,ENST00000536409,;TMEM109,downstream_gene_variant,,ENST00000536171,;TMEM109,downstream_gene_variant,,ENST00000227525,;RP11-881M11.4,upstream_gene_variant,,ENST00000543907,;TMEM132A,intron_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,upstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM109,downstream_gene_variant,,ENST00000540280,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;	263	25	31	SUCCESS
EEF1G	1937	.	GRCh37	11	62334990	62334990	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	56	0	ENST00000329251.4:c.533C>G	p.Pro178Arg	p.P178R	ENST00000329251	NM_001404.4	178	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS44626.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGGCTCT	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF161,Pfam_domain:PF00043,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616	.	.	ENSP00000331901	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000329251	Transcript	.	.	ENSG00000254772	3213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	EF1G_HUMAN	EEF1G	HGNC	Q53YD7_HUMAN,Q2F840_HUMAN	.	UPI00000012C3	SNV	EEF1G,missense_variant,p.Pro228Arg,ENST00000378019,;EEF1G,missense_variant,p.Pro178Arg,ENST00000329251,;EEF1G,non_coding_transcript_exon_variant,,ENST00000524420,;EEF1G,downstream_gene_variant,,ENST00000532986,;MIR3654,3_prime_UTR_variant,,ENST00000496634,;MIR3654,non_coding_transcript_exon_variant,,ENST00000526409,;EEF1G,non_coding_transcript_exon_variant,,ENST00000525340,;	664	56	48	SUCCESS
OMP	4975	.	GRCh37	11	76814313	76814313	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	39	0	ENST00000529803.1:c.428T>C	p.Val143Ala	p.V143A	ENST00000529803	NM_006189.1	143	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS53682.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGTCACCT	NONE	.	.	hmmpanther:PTHR15357,Gene3D:1f35A00,Pfam_domain:PF06554,Superfamily_domains:0037362	.	.	ENSP00000436376	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000529803	Transcript	.	.	ENSG00000254550	8136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious_low_confidence(0.02)	.	OMP_HUMAN	OMP	HGNC	.	.	UPI00001637C1	SNV	OMP,missense_variant,p.Val143Ala,ENST00000529803,;CAPN5,intron_variant,,ENST00000529629,;CAPN5,intron_variant,,ENST00000456580,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,intron_variant,,ENST00000278559,;CAPN5,intron_variant,,ENST00000533889,;	428	39	38	SUCCESS
CORO1C	23603	.	GRCh37	12	109042555	109042555	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	88	0	ENST00000261401.3:c.1131G>A	p.Trp377Ter	p.W377*	ENST00000261401	NM_014325.3	377	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS9120.1	1131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAACCACTC	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF10,Pfam_domain:PF08954	.	.	ENSP00000261401	.	10/11	.	.	.	.	.	.	.	.	.	10/11	nonpreferredpair	ENST00000261401	Transcript	.	.	ENSG00000110880	2254	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COR1C_HUMAN	CORO1C	HGNC	H0YHL7_HUMAN,F8VVB7_HUMAN,F8VV53_HUMAN,F8VTT6_HUMAN,F8VSA4_HUMAN,F8VRE9_HUMAN,B7Z9V0_HUMAN,B4E3S0_HUMAN	.	UPI0000127C44	SNV	CORO1C,stop_gained,p.Trp430Ter,ENST00000420959,;CORO1C,stop_gained,p.Trp272Ter,ENST00000421578,;CORO1C,stop_gained,p.Trp383Ter,ENST00000549772,;CORO1C,stop_gained,p.Trp377Ter,ENST00000541050,;CORO1C,stop_gained,p.Trp68Ter,ENST00000546705,;CORO1C,stop_gained,p.Trp377Ter,ENST00000261401,;CORO1C,non_coding_transcript_exon_variant,,ENST00000549384,;CORO1C,downstream_gene_variant,,ENST00000552030,;CORO1C,3_prime_UTR_variant,,ENST00000550542,;CORO1C,non_coding_transcript_exon_variant,,ENST00000549387,;CORO1C,downstream_gene_variant,,ENST00000547361,;	1304	88	97	SUCCESS
IFT81	28981	.	GRCh37	12	110574580	110574580	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	rs775681854	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	69	224	2	ENST00000242591.5:c.697-1G>C		p.X233_splice	ENST00000242591	NM_014055.3	233		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41831.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTAAAGCTATT	NONE	byFrequency	.	.	.	.	ENSP00000242591	.	.	.	.	.	.	.	.	.	.	rs775681854	.	nonpreferredpair	ENST00000242591	Transcript	.	.	ENSG00000122970	14313	.	.	HIGH	7/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFT81_HUMAN	IFT81	HGNC	.	.	UPI000000D78F	SNV	IFT81,splice_acceptor_variant,,ENST00000242591,;IFT81,splice_acceptor_variant,,ENST00000546374,;IFT81,splice_acceptor_variant,,ENST00000361948,;IFT81,splice_acceptor_variant,,ENST00000552912,;IFT81,upstream_gene_variant,,ENST00000549009,;IFT81,splice_acceptor_variant,,ENST00000550156,;IFT81,splice_acceptor_variant,,ENST00000551273,;	.	226	237	SUCCESS
HECTD4	283450	.	GRCh37	12	112622701	112622701	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747606994	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	50	1	ENST00000550722.1:c.9631G>C	p.Ala3211Pro	p.A3211P	ENST00000550722	NM_001109662.3	3211	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	.	9631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCGCGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	61/76	.	.	.	.	.	.	.	.	rs747606994,COSM1948330,COSM1948331	61/76	nonpreferredpair	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.884)	.	.	0,1,1	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Ala2935Pro,ENST00000430131,;HECTD4,missense_variant,p.Ala3211Pro,ENST00000550722,;HECTD4,missense_variant,p.Ala3185Pro,ENST00000377560,;	10027	51	54	SUCCESS
GLT1D1	144423	.	GRCh37	12	129360597	129360597	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	42	0	ENST00000442111.2:c.207G>A	p.Arg69=	p.R69=	ENST00000442111		69	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9265.1	207	MUTECT|MUSE|VARSCANS	.	GGCAGGCTTTT	NONE	.	.	hmmpanther:PTHR12526,hmmpanther:PTHR12526:SF331	.	.	ENSP00000281703	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000281703	Transcript	.	.	ENSG00000151948	26483	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GL1D1_HUMAN	GLT1D1	HGNC	.	.	UPI0000070E33	SNV	GLT1D1,synonymous_variant,p.%3D,ENST00000281703,;GLT1D1,synonymous_variant,p.%3D,ENST00000442111,;GLT1D1,synonymous_variant,p.%3D,ENST00000537468,;GLT1D1,5_prime_UTR_variant,,ENST00000542193,;GLT1D1,synonymous_variant,p.%3D,ENST00000413816,;GLT1D1,synonymous_variant,p.%3D,ENST00000441390,;GLT1D1,synonymous_variant,p.%3D,ENST00000539044,;	253	42	49	SUCCESS
POLE	5426	.	GRCh37	12	133201295	133201295	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	85	0	ENST00000320574.5:c.6849G>A	p.Gln2283=	p.Q2283=	ENST00000320574	NM_006231.2	2283	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9278.1	6849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCTGTGG	NONE	.	.	.	.	.	ENSP00000322570	.	49/49	.	.	.	.	.	.	.	.	.	49/49	nonpreferredpair	ENST00000320574	Transcript	.	.	ENSG00000177084	9177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOE1_HUMAN	POLE	HGNC	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN	.	UPI00001FBF97	SNV	POLE,synonymous_variant,p.%3D,ENST00000535270,;POLE,synonymous_variant,p.%3D,ENST00000320574,;P2RX2,downstream_gene_variant,,ENST00000542301,;P2RX2,downstream_gene_variant,,ENST00000352418,;P2RX2,downstream_gene_variant,,ENST00000343948,;P2RX2,downstream_gene_variant,,ENST00000389110,;P2RX2,downstream_gene_variant,,ENST00000536121,;P2RX2,downstream_gene_variant,,ENST00000350048,;P2RX2,downstream_gene_variant,,ENST00000348800,;P2RX2,downstream_gene_variant,,ENST00000351222,;P2RX2,downstream_gene_variant,,ENST00000535910,;P2RX2,downstream_gene_variant,,ENST00000449132,;POLE,downstream_gene_variant,,ENST00000544870,;POLE,downstream_gene_variant,,ENST00000538196,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000541627,;POLE,non_coding_transcript_exon_variant,,ENST00000534922,;POLE,non_coding_transcript_exon_variant,,ENST00000544692,;POLE,downstream_gene_variant,,ENST00000543516,;	6893	85	74	SUCCESS
PRKAG1	5571	.	GRCh37	12	49412616	49412616	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs376441054	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	31	38	0	ENST00000548065.1:c.-93G>A		p.*31*	ENST00000548065				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55825.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCACGTC	NONE	.	54	.	.	.	ENSP00000323867	.	.	.	.	.	.	.	.	.	.	rs376441054	.	nonpreferredpair	ENST00000316299	Transcript	.	.	ENSG00000181929	9385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAKG1_HUMAN	PRKAG1	HGNC	F8W9D1_HUMAN,F8VYZ8_HUMAN,F8VPF5_HUMAN	.	UPI000007202F	SNV	PRKAG1,5_prime_UTR_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000548950,;KMT2D,downstream_gene_variant,,ENST00000301067,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000552212,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000316299,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000395170,;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000547125,;KMT2D,downstream_gene_variant,,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000551696,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547866,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;PRKAG1,upstream_gene_variant,,ENST00000552657,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000546531,;	.	38	53	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50186524	50186524	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	47	0	ENST00000335999.6:c.3586C>T	p.Pro1196Ser	p.P1196S	ENST00000335999	NM_001037806.3	1196	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41781.2	3586	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21740	.	.	ENSP00000337998	.	11/13	.	.	.	.	.	.	.	.	.	11/13	nonpreferredpair	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	deleterious(0.04)	.	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Pro1196Ser,ENST00000335999,;NCKAP5L,missense_variant,p.Pro911Ser,ENST00000433948,;	3788	47	89	SUCCESS
OS9	10956	.	GRCh37	12	58087958	58087958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150848860	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	70	0	ENST00000315970.7:c.14C>T	p.Thr5Met	p.T5M	ENST00000315970	NM_006812.3	5	aCg/aTg	0	G:0.0084	G:0.0159	.	G:0	.	T	T/M	protein_coding	YES	CCDS31843.1	14	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACGCTGC	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1	G:0	G:0	ENSP00000318165	G:0	1/15	.	.	.	.	.	.	.	.	rs150848860	1/15	nonpreferredpair	ENST00000315970	Transcript	.	G:0.0042	ENSG00000135506	16994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	G:0	deleterious(0.04)	.	OS9_HUMAN	OS9	HGNC	Q9BR60_HUMAN	.	UPI0000130EAC	SNV	OS9,missense_variant,p.Thr5Met,ENST00000413095,;OS9,missense_variant,p.Thr5Met,ENST00000257966,;OS9,missense_variant,p.Thr5Met,ENST00000435406,;OS9,missense_variant,p.Thr5Met,ENST00000551035,;OS9,missense_variant,p.Thr5Met,ENST00000315970,;OS9,missense_variant,p.Thr5Met,ENST00000552285,;OS9,missense_variant,p.Thr5Met,ENST00000389142,;OS9,missense_variant,p.Thr5Met,ENST00000389146,;OS9,missense_variant,p.Thr5Met,ENST00000550372,;OS9,missense_variant,p.Thr5Met,ENST00000547079,;OS9,missense_variant,p.Thr5Met,ENST00000439210,;RP11-571M6.7,non_coding_transcript_exon_variant,,ENST00000549477,;OS9,missense_variant,p.Thr5Met,ENST00000550848,;OS9,missense_variant,p.Thr5Met,ENST00000552787,;OS9,missense_variant,p.Thr5Met,ENST00000552423,;OS9,missense_variant,p.Thr5Met,ENST00000551285,;OS9,non_coding_transcript_exon_variant,,ENST00000549897,;OS9,non_coding_transcript_exon_variant,,ENST00000550793,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,upstream_gene_variant,,ENST00000549307,;	55	70	116	SUCCESS
CLSTN3	9746	.	GRCh37	12	7287981	7287981	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs759093363	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	80	1	ENST00000266546.6:c.442C>G	p.Arg148Gly	p.R148G	ENST00000266546	NM_014718.3	148	Cgg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8575.1	442	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGAACGGCTG	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000266546	.	4/18	.	.	.	.	.	.	.	.	rs759093363,COSM4044735	4/18	nonpreferredpair	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.011)	.	tolerated(0.18)	0,1	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	SNV	CLSTN3,missense_variant,p.Arg160Gly,ENST00000537408,;CLSTN3,missense_variant,p.Arg131Gly,ENST00000539982,;CLSTN3,missense_variant,p.Arg148Gly,ENST00000266546,;CLSTN3,missense_variant,p.Arg111Gly,ENST00000535452,;CLSTN3,missense_variant,p.Arg111Gly,ENST00000545663,;CLSTN3,missense_variant,p.Arg111Gly,ENST00000534830,;CLSTN3,downstream_gene_variant,,ENST00000541953,;RP11-273B20.1,upstream_gene_variant,,ENST00000538062,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541667,;CLSTN3,upstream_gene_variant,,ENST00000544584,;CLSTN3,upstream_gene_variant,,ENST00000535668,;CLSTN3,upstream_gene_variant,,ENST00000540931,;CLSTN3,downstream_gene_variant,,ENST00000538933,;	892	81	93	SUCCESS
HSPH1	10808	.	GRCh37	13	31722176	31722176	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	47	113	0	ENST00000320027.5:c.1298C>T	p.Thr433Ile	p.T433I	ENST00000320027	NM_006644.2	433	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS9340.1	1298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGGTGAGA	NONE	.	.	hmmpanther:PTHR19375:SF18,hmmpanther:PTHR19375,Pfam_domain:PF00012,Gene3D:2.60.34.10,Superfamily_domains:SSF100920	.	.	ENSP00000318687	.	10/18	.	.	.	.	.	.	.	.	.	10/18	nonpreferredpair	ENST00000320027	Transcript	.	.	ENSG00000120694	16969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	deleterious(0)	.	HS105_HUMAN	HSPH1	HGNC	.	.	UPI0000001C62	SNV	HSPH1,missense_variant,p.Thr252Ile,ENST00000429785,;HSPH1,missense_variant,p.Thr433Ile,ENST00000320027,;HSPH1,missense_variant,p.Thr392Ile,ENST00000380406,;HSPH1,missense_variant,p.Thr435Ile,ENST00000445273,;HSPH1,missense_variant,p.Thr433Ile,ENST00000380405,;HSPH1,3_prime_UTR_variant,,ENST00000602786,;	1643	113	134	SUCCESS
PCDH17	27253	.	GRCh37	13	58208334	58208334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	78	0	ENST00000377918.3:c.1654G>A	p.Val552Met	p.V552M	ENST00000377918	NM_001040429.2	552	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS31986.1	1654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTGCTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF41,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000367151	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000377918	Transcript	.	.	ENSG00000118946	14267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,missense_variant,p.Val552Met,ENST00000377918,;PCDH17,missense_variant,p.Val552Met,ENST00000484979,;	1680	78	66	SUCCESS
FANCM	57697	.	GRCh37	14	45658377	45658377	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371629950	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	73	139	0	ENST00000267430.5:c.5152G>A	p.Val1718Met	p.V1718M	ENST00000267430	NM_020937.2	1718	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS32070.1	5152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGTGCGT	NONE	byCluster	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	A:0.0001	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	rs371629950	20/23	nonpreferredpair	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.11)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Val651Met,ENST00000554809,;FANCM,missense_variant,p.Val1692Met,ENST00000542564,;FANCM,missense_variant,p.Val1234Met,ENST00000556250,;FANCM,missense_variant,p.Val1718Met,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	5237	139	166	SUCCESS
PSMC6	5706	.	GRCh37	14	53187606	53187606	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	93	272	1	ENST00000606149.1:c.805A>T	p.Thr269Ser	p.T269S	ENST00000606149	NM_002806.3	269	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS9710.2	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATACTCTG	NONE	.	.	hmmpanther:PTHR23073:SF24,hmmpanther:PTHR23073,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000401802	.	11/14	.	.	.	.	.	.	.	.	.	11/14	nonpreferredpair	ENST00000445930	Transcript	.	.	ENSG00000100519	9553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.89)	.	.	PSMC6	HGNC	.	.	UPI00001FD556	SNV	PSMC6,missense_variant,p.Thr269Ser,ENST00000606149,;PSMC6,missense_variant,p.Thr283Ser,ENST00000445930,;PSMC6,intron_variant,,ENST00000556813,;PSMC6,downstream_gene_variant,,ENST00000555339,;PSMC6,upstream_gene_variant,,ENST00000557557,;PSMC6,non_coding_transcript_exon_variant,,ENST00000551328,;PSMC6,intron_variant,,ENST00000555175,;PSMC6,downstream_gene_variant,,ENST00000554044,;PSMC6,upstream_gene_variant,,ENST00000557632,;PSMC6,downstream_gene_variant,,ENST00000557240,;PSMC6,downstream_gene_variant,,ENST00000458604,;	853	273	275	SUCCESS
FNTB	2342	.	GRCh37	14	65453640	65453640	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs1566857805	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	47	0	ENST00000246166.2:c.-32A>G		p.*11*	ENST00000246166	NM_002028.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9769.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAGTCCT	NONE	.	.	.	.	.	ENSP00000246166	.	1/12	.	.	.	.	.	.	.	.	.	1/12	nonpreferredpair	ENST00000246166	Transcript	.	.	ENSG00000257365	3785	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNTB_HUMAN	FNTB	HGNC	Q86TX8_HUMAN,B4DJ86_HUMAN,B3KSC2_HUMAN	.	UPI0000111EF4	SNV	FNTB,5_prime_UTR_variant,,ENST00000246166,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1-FNTB,intron_variant,,ENST00000553743,;FNTB,intron_variant,,ENST00000542227,;FNTB,non_coding_transcript_exon_variant,,ENST00000555372,;FNTB,upstream_gene_variant,,ENST00000555742,;CHURC1-FNTB,intron_variant,,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;	203	47	45	SUCCESS
PAPLN	89932	.	GRCh37	14	73729395	73729395	+	synonymous_variant	Silent	SNP	C	C	T	rs1183672453	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	41	0	ENST00000554301.1:c.2583C>T	p.Asp861=	p.D861=	ENST00000554301		861	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS32114.1	2502	MUTECT|MUSE|VARSCANS	.	CAAGACCAACA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20	.	.	ENSP00000345395	.	18/26	.	.	.	.	.	.	.	.	.	18/26	nonpreferredpair	ENST00000340738	Transcript	.	.	ENSG00000100767	19262	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPN_HUMAN	PAPLN	HGNC	B3KXI1_HUMAN	.	UPI0000D6242C	SNV	PAPLN,synonymous_variant,p.%3D,ENST00000559759,;PAPLN,synonymous_variant,p.%3D,ENST00000555445,;PAPLN,synonymous_variant,p.%3D,ENST00000381166,;PAPLN,synonymous_variant,p.%3D,ENST00000427855,;PAPLN,synonymous_variant,p.%3D,ENST00000554301,;PAPLN,synonymous_variant,p.%3D,ENST00000340738,;PAPLN,non_coding_transcript_exon_variant,,ENST00000554314,;PAPLN,synonymous_variant,p.%3D,ENST00000557061,;PAPLN,synonymous_variant,p.%3D,ENST00000555123,;PAPLN,non_coding_transcript_exon_variant,,ENST00000555700,;PAPLN,intron_variant,,ENST00000216658,;	2604	41	44	SUCCESS
DLST	1743	.	GRCh37	14	75359658	75359658	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	7	64	0	ENST00000334220.4:c.564C>T	p.Pro188=	p.P188=	ENST00000334220	NM_001933.4	188	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9833.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCTCGCC	NONE	.	.	Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01347,hmmpanther:PTHR23151:SF8,hmmpanther:PTHR23151	.	.	ENSP00000335304	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000334220	Transcript	.	.	ENSG00000119689	2911	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ODO2_HUMAN	DLST	HGNC	.	.	UPI00000000C0	SNV	DLST,synonymous_variant,p.%3D,ENST00000334220,;DLST,synonymous_variant,p.%3D,ENST00000334212,;DLST,synonymous_variant,p.%3D,ENST00000554806,;DLST,non_coding_transcript_exon_variant,,ENST00000555190,;DLST,3_prime_UTR_variant,,ENST00000554612,;DLST,3_prime_UTR_variant,,ENST00000238671,;DLST,3_prime_UTR_variant,,ENST00000555089,;DLST,3_prime_UTR_variant,,ENST00000555988,;DLST,downstream_gene_variant,,ENST00000555459,;DLST,downstream_gene_variant,,ENST00000550473,;DLST,downstream_gene_variant,,ENST00000556460,;DLST,downstream_gene_variant,,ENST00000557012,;DLST,downstream_gene_variant,,ENST00000555071,;DLST,downstream_gene_variant,,ENST00000556582,;DLST,downstream_gene_variant,,ENST00000555492,;	625	64	71	SUCCESS
NEK9	91754	.	GRCh37	14	75590774	75590774	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	66	0	ENST00000238616.5:c.372G>A	p.Leu124=	p.L124=	ENST00000238616	NM_033116.4	124	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9839.1	372	MUTECT|MUSE	.	ATCAGCAGCGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000238616	.	2/22	.	.	.	.	.	.	.	.	.	2/22	nonpreferredpair	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	SNV	NEK9,synonymous_variant,p.%3D,ENST00000553823,;NEK9,synonymous_variant,p.%3D,ENST00000557673,;NEK9,synonymous_variant,p.%3D,ENST00000238616,;RP11-950C14.7,upstream_gene_variant,,ENST00000556236,;NEK9,synonymous_variant,p.%3D,ENST00000553945,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,intron_variant,,ENST00000554258,;NEK9,upstream_gene_variant,,ENST00000555961,;	531	66	53	SUCCESS
PDCD7	10081	.	GRCh37	15	65411134	65411134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	54	0	ENST00000204549.4:c.1379G>A	p.Gly460Asp	p.G460D	ENST00000204549	NM_005707.1	460	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS10201.1	1379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGCCTTTG	NONE	.	.	hmmpanther:PTHR24022	.	.	ENSP00000204549	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000204549	Transcript	.	.	ENSG00000090470	8767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	PDCD7_HUMAN	PDCD7	HGNC	Q6IEG3_HUMAN	.	UPI00000731D7	SNV	PDCD7,missense_variant,p.Gly460Asp,ENST00000204549,;PDCD7,missense_variant,p.Gly91Asp,ENST00000560313,;UBAP1L,upstream_gene_variant,,ENST00000559089,;PDCD7,downstream_gene_variant,,ENST00000559051,;	1434	54	72	SUCCESS
IL16	3603	.	GRCh37	15	81593848	81593848	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	52	0	ENST00000302987.4:c.3313T>G	p.Leu1105Val	p.L1105V	ENST00000302987		1105	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS42069.1	3313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATTAAAG	NONE	.	.	hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Prints_domain:PR01931	.	.	ENSP00000302935	.	14/18	.	.	.	.	.	.	.	.	.	14/18	nonpreferredpair	ENST00000302987	Transcript	.	.	ENSG00000172349	5980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	deleterious(0)	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,missense_variant,p.Leu409Val,ENST00000558332,;IL16,missense_variant,p.Leu1105Val,ENST00000394660,;IL16,missense_variant,p.Leu1059Val,ENST00000559388,;IL16,missense_variant,p.Leu1105Val,ENST00000302987,;IL16,missense_variant,p.Leu404Val,ENST00000394652,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,downstream_gene_variant,,ENST00000560230,;IL16,3_prime_UTR_variant,,ENST00000558857,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,upstream_gene_variant,,ENST00000559953,;	3313	52	58	SUCCESS
ITGAD	3681	.	GRCh37	16	31414896	31414896	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	39	0	ENST00000389202.2:c.634C>T	p.Gln212Ter	p.Q212*	ENST00000389202	NM_005353.2	212	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32438.1	634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAGAGC	NONE	.	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS50234	.	.	ENSP00000373854	.	7/30	.	.	.	.	.	.	.	.	.	7/30	nonpreferredpair	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,stop_gained,p.Gln212Ter,ENST00000389202,;RP11-120K18.2,non_coding_transcript_exon_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	683	39	69	SUCCESS
NUP93	9688	.	GRCh37	16	56870513	56870513	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	38	0	ENST00000308159.5:c.1783C>T	p.Pro595Ser	p.P595S	ENST00000308159	NM_014669.4	595	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10769.1	1783	MUTECT|MUSE|VARSCANS	.	GTCAGCCTGGA	NONE	.	.	hmmpanther:PTHR11225,Pfam_domain:PF04097	.	.	ENSP00000310668	.	17/22	.	.	.	.	.	.	.	.	.	17/22	nonpreferredpair	ENST00000308159	Transcript	.	.	ENSG00000102900	28958	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.528)	.	tolerated(0.05)	.	NUP93_HUMAN	NUP93	HGNC	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN	.	UPI0000044E0C	SNV	NUP93,missense_variant,p.Pro472Ser,ENST00000564887,;NUP93,missense_variant,p.Pro472Ser,ENST00000542526,;NUP93,missense_variant,p.Pro595Ser,ENST00000569842,;NUP93,missense_variant,p.Pro595Ser,ENST00000308159,;NUP93,upstream_gene_variant,,ENST00000563486,;NUP93,upstream_gene_variant,,ENST00000569322,;NUP93,downstream_gene_variant,,ENST00000563858,;NUP93,upstream_gene_variant,,ENST00000563405,;NUP93,downstream_gene_variant,,ENST00000563437,;NUP93,upstream_gene_variant,,ENST00000564278,;	1904	38	30	SUCCESS
GPR56	0	.	GRCh37	16	57685514	57685514	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	46	0	ENST00000567835.1:c.467G>C	p.Ser156Thr	p.S156T	ENST00000567835		156	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS32460.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCAGCTTCA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF45	.	.	ENSP00000373464	.	3/14	.	.	.	.	.	.	.	.	.	3/14	nonpreferredpair	ENST00000388812	Transcript	.	.	ENSG00000205336	4512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.54)	.	GPR56_HUMAN	GPR56	HGNC	H3BVE9_HUMAN,H3BVD3_HUMAN,H3BV72_HUMAN,H3BV52_HUMAN,H3BUH2_HUMAN,H3BTK9_HUMAN,H3BTH7_HUMAN,H3BTD2_HUMAN,H3BT88_HUMAN,H3BSR1_HUMAN,H3BSN7_HUMAN,H3BSN3_HUMAN,H3BSB8_HUMAN,H3BS94_HUMAN,H3BS14_HUMAN,H3BRZ4_HUMAN,H3BRI7_HUMAN,H3BRH0_HUMAN,H3BRB4_HUMAN,H3BRA1_HUMAN,H3BQZ1_HUMAN,H3BQW4_HUMAN,H3BQ46_HUMAN,H3BNN3_HUMAN,H3BMF8_HUMAN	.	UPI0000047817	SNV	GPR56,missense_variant,p.Ser161Thr,ENST00000566271,;GPR56,missense_variant,p.Ser156Thr,ENST00000561988,;GPR56,missense_variant,p.Ser156Thr,ENST00000568909,;GPR56,missense_variant,p.Ser62Thr,ENST00000564103,;GPR56,missense_variant,p.Ser156Thr,ENST00000540164,;GPR56,missense_variant,p.Ser156Thr,ENST00000561969,;GPR56,missense_variant,p.Ser156Thr,ENST00000569101,;GPR56,missense_variant,p.Ser156Thr,ENST00000562631,;GPR56,missense_variant,p.Ser156Thr,ENST00000456916,;GPR56,missense_variant,p.Ser156Thr,ENST00000569494,;GPR56,missense_variant,p.Ser156Thr,ENST00000379696,;GPR56,missense_variant,p.Ser161Thr,ENST00000561782,;GPR56,missense_variant,p.Ser156Thr,ENST00000538815,;GPR56,missense_variant,p.Ser161Thr,ENST00000563862,;GPR56,missense_variant,p.Ser156Thr,ENST00000388812,;GPR56,missense_variant,p.Ser156Thr,ENST00000388813,;GPR56,missense_variant,p.Ser156Thr,ENST00000562558,;GPR56,missense_variant,p.Ser156Thr,ENST00000568908,;GPR56,missense_variant,p.Ser104Thr,ENST00000568531,;GPR56,missense_variant,p.Ser156Thr,ENST00000561833,;GPR56,missense_variant,p.Ser156Thr,ENST00000561696,;GPR56,missense_variant,p.Ser156Thr,ENST00000567835,;GPR56,5_prime_UTR_variant,,ENST00000544297,;GPR56,intron_variant,,ENST00000379694,;GPR56,downstream_gene_variant,,ENST00000568234,;GPR56,downstream_gene_variant,,ENST00000567154,;GPR56,downstream_gene_variant,,ENST00000566508,;GPR56,downstream_gene_variant,,ENST00000565770,;GPR56,downstream_gene_variant,,ENST00000568979,;GPR56,downstream_gene_variant,,ENST00000564722,;GPR56,downstream_gene_variant,,ENST00000564360,;GPR56,downstream_gene_variant,,ENST00000566778,;GPR56,downstream_gene_variant,,ENST00000563414,;GPR56,downstream_gene_variant,,ENST00000565976,;GPR56,downstream_gene_variant,,ENST00000568791,;GPR56,downstream_gene_variant,,ENST00000568074,;GPR56,downstream_gene_variant,,ENST00000566164,;GPR56,downstream_gene_variant,,ENST00000569158,;GPR56,downstream_gene_variant,,ENST00000563445,;GPR56,downstream_gene_variant,,ENST00000569531,;GPR56,downstream_gene_variant,,ENST00000564338,;GPR56,downstream_gene_variant,,ENST00000567397,;GPR56,downstream_gene_variant,,ENST00000565587,;GPR56,downstream_gene_variant,,ENST00000567702,;GPR56,downstream_gene_variant,,ENST00000568157,;GPR56,downstream_gene_variant,,ENST00000564783,;GPR56,downstream_gene_variant,,ENST00000568618,;GPR56,downstream_gene_variant,,ENST00000565338,;GPR56,downstream_gene_variant,,ENST00000563374,;GPR56,downstream_gene_variant,,ENST00000562414,;GPR56,downstream_gene_variant,,ENST00000564729,;GPR56,downstream_gene_variant,,ENST00000566187,;GPR56,upstream_gene_variant,,ENST00000565391,;GPR56,downstream_gene_variant,,ENST00000565314,;GPR56,downstream_gene_variant,,ENST00000563548,;GPR56,downstream_gene_variant,,ENST00000562467,;GPR56,downstream_gene_variant,,ENST00000566123,;GPR56,downstream_gene_variant,,ENST00000569154,;GPR56,downstream_gene_variant,,ENST00000565013,;GPR56,downstream_gene_variant,,ENST00000567915,;GPR56,downstream_gene_variant,,ENST00000570044,;GPR56,downstream_gene_variant,,ENST00000562682,;GPR56,downstream_gene_variant,,ENST00000569372,;GPR56,downstream_gene_variant,,ENST00000567553,;GPR56,downstream_gene_variant,,ENST00000566169,;GPR56,downstream_gene_variant,,ENST00000562003,;GPR56,non_coding_transcript_exon_variant,,ENST00000564912,;GPR56,non_coding_transcript_exon_variant,,ENST00000566888,;GPR56,non_coding_transcript_exon_variant,,ENST00000562608,;GPR56,intron_variant,,ENST00000568700,;GPR56,downstream_gene_variant,,ENST00000561872,;GPR56,downstream_gene_variant,,ENST00000569132,;GPR56,downstream_gene_variant,,ENST00000569992,;GPR56,downstream_gene_variant,,ENST00000562101,;GPR56,downstream_gene_variant,,ENST00000562673,;GPR56,3_prime_UTR_variant,,ENST00000565539,;GPR56,3_prime_UTR_variant,,ENST00000564907,;GPR56,3_prime_UTR_variant,,ENST00000568645,;GPR56,3_prime_UTR_variant,,ENST00000563007,;GPR56,upstream_gene_variant,,ENST00000565505,;	907	46	51	SUCCESS
NOB1	28987	.	GRCh37	16	69776359	69776359	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765124938	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	77	0	ENST00000268802.5:c.1115C>T	p.Pro372Leu	p.P372L	ENST00000268802	NM_014062.2	372	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS10884.1	1115	MUTECT|MUSE|VARSCANS	.	CAAAGGGTGAC	NONE	.	.	hmmpanther:PTHR12814,PIRSF_domain:PIRSF037125	.	.	ENSP00000268802	.	9/9	.	.	.	.	.	.	.	.	rs765124938	9/9	nonpreferredpair	ENST00000268802	Transcript	.	.	ENSG00000141101	29540	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOB1_HUMAN	NOB1	HGNC	.	.	UPI0000034E10	SNV	NOB1,missense_variant,p.Pro372Leu,ENST00000268802,;CTD-2033A16.3,non_coding_transcript_exon_variant,,ENST00000575838,;NOB1,downstream_gene_variant,,ENST00000569871,;NOB1,downstream_gene_variant,,ENST00000564620,;	1145	77	71	SUCCESS
DDX19B	11269	.	GRCh37	16	70363839	70363839	+	synonymous_variant	Silent	SNP	G	G	A	rs1029934930	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	29	99	0	ENST00000288071.6:c.891G>A	p.Leu297=	p.L297=	ENST00000288071	NM_007242.5	297	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10888.1	891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTGAAGCG	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF194,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000288071	.	9/12	.	.	.	.	.	.	.	.	.	9/12	nonpreferredpair	ENST00000288071	Transcript	.	.	ENSG00000157349	2742	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DD19B_HUMAN	DDX19B	HGNC	Q2NL95_HUMAN,H3BN59_HUMAN,B4DL69_HUMAN	.	UPI000012907F	SNV	DDX19B,synonymous_variant,p.%3D,ENST00000393657,;DDX19B,synonymous_variant,p.%3D,ENST00000288071,;DDX19B,synonymous_variant,p.%3D,ENST00000451014,;DDX19B,synonymous_variant,p.%3D,ENST00000568625,;DDX19B,synonymous_variant,p.%3D,ENST00000355992,;DDX19B,synonymous_variant,p.%3D,ENST00000563206,;DDX19B,synonymous_variant,p.%3D,ENST00000563392,;RP11-529K1.3,intron_variant,,ENST00000567706,;DDX19B,downstream_gene_variant,,ENST00000566216,;RP11-529K1.2,intron_variant,,ENST00000562077,;DDX19B,3_prime_UTR_variant,,ENST00000562519,;DDX19B,3_prime_UTR_variant,,ENST00000568008,;RP11-529K1.3,intron_variant,,ENST00000565116,;RP11-529K1.2,downstream_gene_variant,,ENST00000570278,;DDX19B,downstream_gene_variant,,ENST00000568460,;DDX19B,downstream_gene_variant,,ENST00000568408,;	1136	99	110	SUCCESS
ANKRD13B	124930	.	GRCh37	17	27940598	27940598	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	30	0	ENST00000394859.3:c.1879T>C	p.Ter627GlnextTer108	p.*627Qext*108	ENST00000394859	NM_152345.4	627	Tag/Cag	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS11251.1	1879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTAGCGC	NONE	.	.	.	.	.	ENSP00000378328	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000394859	Transcript	.	.	ENSG00000198720	26363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN13B_HUMAN	ANKRD13B	HGNC	K7ENT0_HUMAN	.	UPI0000246D82	SNV	ANKRD13B,stop_lost,p.Ter627GlnextTer108,ENST00000394859,;CORO6,downstream_gene_variant,,ENST00000584969,;CORO6,downstream_gene_variant,,ENST00000456796,;CORO6,downstream_gene_variant,,ENST00000345068,;ANKRD13B,downstream_gene_variant,,ENST00000579719,;CORO6,downstream_gene_variant,,ENST00000388767,;CORO6,downstream_gene_variant,,ENST00000445145,;ANKRD13B,downstream_gene_variant,,ENST00000583728,;CORO6,downstream_gene_variant,,ENST00000580212,;RP11-68I3.2,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;ANKRD13B,stop_lost,p.Ter627GlnextTer78,ENST00000488766,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000493506,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000487527,;CORO6,downstream_gene_variant,,ENST00000480954,;ANKRD13B,downstream_gene_variant,,ENST00000578943,;CORO6,downstream_gene_variant,,ENST00000469090,;CORO6,downstream_gene_variant,,ENST00000459686,;ANKRD13B,downstream_gene_variant,,ENST00000578811,;CORO6,downstream_gene_variant,,ENST00000467534,;CORO6,downstream_gene_variant,,ENST00000579388,;	2033	30	20	SUCCESS
SLC16A6	9120	.	GRCh37	17	66268836	66268836	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	93	0	ENST00000327268.4:c.449T>C	p.Ile150Thr	p.I150T	ENST00000327268	NM_001174166.1	150	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS11675.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTATGGAA	NONE	.	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360:SF20,hmmpanther:PTHR11360,PROSITE_profiles:PS50850	.	.	ENSP00000319991	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000327268	Transcript	.	.	ENSG00000108932	10927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0)	.	MOT7_HUMAN	SLC16A6	HGNC	J3KS02_HUMAN,A1L174_HUMAN	.	UPI00001AA3B9	SNV	SLC16A6,missense_variant,p.Ile102Thr,ENST00000583477,;SLC16A6,missense_variant,p.Ile150Thr,ENST00000580666,;SLC16A6,missense_variant,p.Ile150Thr,ENST00000327268,;ARSG,intron_variant,,ENST00000448504,;SLC16A6,downstream_gene_variant,,ENST00000582867,;ARSG,intron_variant,,ENST00000578726,;	614	93	127	SUCCESS
FDXR	2232	.	GRCh37	17	72869123	72869123	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1300938716	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	27	1	ENST00000293195.5:c.-54C>T		p.*18*	ENST00000293195	NM_001258014.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58595.1	.	SOMATICSNIPER|VARSCANS	.	GCAGGGCAAGC	NONE	.	.	.	.	.	ENSP00000416515	.	1/12	.	.	.	.	.	.	.	.	.	1/12	nonpreferredpair	ENST00000442102	Transcript	.	.	ENSG00000161513	3642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADRO_HUMAN	FDXR	HGNC	.	.	UPI00017A7105	SNV	FDXR,5_prime_UTR_variant,,ENST00000293195,;FDXR,5_prime_UTR_variant,,ENST00000442102,;FDXR,5_prime_UTR_variant,,ENST00000583917,;FDXR,upstream_gene_variant,,ENST00000581219,;FDXR,upstream_gene_variant,,ENST00000579893,;FDXR,upstream_gene_variant,,ENST00000420580,;FDXR,upstream_gene_variant,,ENST00000544854,;FADS6,downstream_gene_variant,,ENST00000310226,;FDXR,upstream_gene_variant,,ENST00000581530,;FDXR,upstream_gene_variant,,ENST00000582944,;FDXR,upstream_gene_variant,,ENST00000413947,;FDXR,upstream_gene_variant,,ENST00000455107,;FDXR,upstream_gene_variant,,ENST00000581969,;FDXR,5_prime_UTR_variant,,ENST00000583881,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;FDXR,upstream_gene_variant,,ENST00000580492,;FDXR,upstream_gene_variant,,ENST00000579482,;FDXR,upstream_gene_variant,,ENST00000582710,;FDXR,upstream_gene_variant,,ENST00000577932,;FDXR,upstream_gene_variant,,ENST00000579543,;FDXR,upstream_gene_variant,,ENST00000577509,;FADS6,downstream_gene_variant,,ENST00000413142,;	34	28	40	SUCCESS
ENTHD2	0	.	GRCh37	17	79205905	79205905	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	9	0	ENST00000300714.3:c.527-84G>T		p.*176*	ENST00000300714	NM_144679.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11779.1	.	MUTECT|MUSE|VARSCANS	.	GGAGGCCTCGG	NONE	.	.	.	.	.	ENSP00000300714	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000300714	Transcript	.	.	ENSG00000167302	26458	.	.	MODIFIER	7/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP4AT_HUMAN	ENTHD2	HGNC	.	.	UPI0000071221	SNV	ENTHD2,intron_variant,,ENST00000374769,;ENTHD2,intron_variant,,ENST00000300714,;ENTHD2,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000569559,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;ENTHD2,intron_variant,,ENST00000576090,;ENTHD2,intron_variant,,ENST00000574944,;ENTHD2,intron_variant,,ENST00000573295,;ENTHD2,downstream_gene_variant,,ENST00000570854,;ENTHD2,downstream_gene_variant,,ENST00000574517,;ENTHD2,upstream_gene_variant,,ENST00000571115,;	.	9	17	SUCCESS
ENTHD2	0	.	GRCh37	17	79205906	79205906	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	9	0	ENST00000300714.3:c.527-85G>T		p.*176*	ENST00000300714	NM_144679.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11779.1	.	MUTECT|MUSE|VARSCANS	.	GAGGCCTCGGG	NONE	.	.	.	.	.	ENSP00000300714	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000300714	Transcript	.	.	ENSG00000167302	26458	.	.	MODIFIER	7/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP4AT_HUMAN	ENTHD2	HGNC	.	.	UPI0000071221	SNV	ENTHD2,intron_variant,,ENST00000374769,;ENTHD2,intron_variant,,ENST00000300714,;ENTHD2,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000569559,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;ENTHD2,intron_variant,,ENST00000576090,;ENTHD2,intron_variant,,ENST00000574944,;ENTHD2,intron_variant,,ENST00000573295,;ENTHD2,downstream_gene_variant,,ENST00000570854,;ENTHD2,downstream_gene_variant,,ENST00000574517,;ENTHD2,upstream_gene_variant,,ENST00000571115,;	.	9	17	SUCCESS
ASPSCR1	79058	.	GRCh37	17	79937057	79937057	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	31	1	ENST00000306739.4:c.103-3C>A		p.X35_splice	ENST00000306739	NM_024083.3	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58611.1	.	SOMATICSNIPER|VARSCANS	.	ACCCCCAGGTT	NONE	.	.	.	.	.	ENSP00000306625	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000306729	Transcript	.	.	ENSG00000169696	13825	.	.	LOW	1/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASPC1_HUMAN	ASPSCR1	HGNC	.	.	UPI000007263D	SNV	ASPSCR1,splice_region_variant,,ENST00000579684,;ASPSCR1,splice_region_variant,,ENST00000581484,;ASPSCR1,splice_region_variant,,ENST00000306739,;ASPSCR1,splice_region_variant,,ENST00000582019,;ASPSCR1,splice_region_variant,,ENST00000306729,;ASPSCR1,splice_region_variant,,ENST00000581647,;ASPSCR1,intron_variant,,ENST00000580534,;ASPSCR1,splice_region_variant,,ENST00000344865,;ASPSCR1,splice_region_variant,,ENST00000583503,;ASPSCR1,splice_region_variant,,ENST00000584454,;	.	32	42	SUCCESS
FAM210A	125228	.	GRCh37	18	13666480	13666480	+	stop_retained_variant	Silent	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	111	2	ENST00000322247.3:c.818A>G	p.Ter273=	p.*273=	ENST00000322247	NM_001098801.1	273	tAa/tGa	0	.	.	.	.	.	C	*	protein_coding	YES	CCDS11866.1	818	RADIA|SOMATICSNIPER|VARSCANS	.	CACCTTATTCC	NONE	.	.	.	.	.	ENSP00000323635	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000322247	Transcript	.	.	ENSG00000177150	28346	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F210A_HUMAN	FAM210A	HGNC	K7ERQ2_HUMAN,K7EK00_HUMAN	.	UPI000006D5B2	SNV	FAM210A,stop_retained_variant,p.%3D,ENST00000402563,;FAM210A,stop_retained_variant,p.%3D,ENST00000322247,;FAM210A,3_prime_UTR_variant,,ENST00000589346,;FAM210A,downstream_gene_variant,,ENST00000592976,;AP001010.1,downstream_gene_variant,,ENST00000580433,;FAM210A,non_coding_transcript_exon_variant,,ENST00000588475,;FAM210A,non_coding_transcript_exon_variant,,ENST00000585785,;	1206	113	85	SUCCESS
LAMA1	284217	.	GRCh37	18	6985309	6985309	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs532071998	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	72	0	ENST00000389658.3:c.5587A>T	p.Asn1863Tyr	p.N1863Y	ENST00000389658	NM_005559.3	1863	Aac/Tac	0	.	A:0	.	A:0	.	A	N/Y	protein_coding	YES	CCDS32787.1	5587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGTTCCTTT	NONE	by1000G	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574	A:0	.	ENSP00000374309	A:0.001	39/63	.	.	.	.	.	.	.	.	rs532071998	39/63	nonpreferredpair	ENST00000389658	Transcript	.	A:0.0002	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	A:0	tolerated(0.05)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Asn1863Tyr,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	5681	72	65	SUCCESS
OR7A10	390892	.	GRCh37	19	14952410	14952410	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	91	0	ENST00000248058.1:c.280T>C	p.Tyr94His	p.Y94H	ENST00000248058	NM_001005190.1	94	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS32936.1	280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATAGGTGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000248058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000248058	Transcript	.	.	ENSG00000127515	8356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious_low_confidence(0.02)	.	OR7AA_HUMAN	OR7A10	HGNC	.	.	UPI0000130B4B	SNV	OR7A10,missense_variant,p.Tyr94His,ENST00000248058,;	280	91	94	SUCCESS
ZNF486	90649	.	GRCh37	19	20278100	20278100	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs868958413	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	30	0	ENST00000335117.8:c.-40G>A		p.*14*	ENST00000335117	NM_052852.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46029.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGGCCCT	NONE	.	.	.	.	.	ENSP00000335042	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000335117	Transcript	.	.	ENSG00000256229	20807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN486_HUMAN	ZNF486	HGNC	Q59FB0_HUMAN	.	UPI00002376E8	SNV	ZNF486,5_prime_UTR_variant,,ENST00000335117,;ZNF486,5_prime_UTR_variant,,ENST00000597083,;CTC-260E6.6,intron_variant,,ENST00000586657,;CTC-260E6.6,intron_variant,,ENST00000593655,;	18	30	37	SUCCESS
WDR87	83889	.	GRCh37	19	38385769	38385769	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	44	0	ENST00000303868.5:c.457A>T	p.Met153Leu	p.M153L	ENST00000303868	NM_031951.3	153	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS46063.1	457	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCATGGAGA	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.023)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Met192Leu,ENST00000447313,;WDR87,missense_variant,p.Met153Leu,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	682	44	44	SUCCESS
PNMAL1	0	.	GRCh37	19	46973078	46973078	+	synonymous_variant	Silent	SNP	A	A	T	rs779646532	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	39	1	ENST00000313683.10:c.1215T>A	p.Pro405=	p.P405=	ENST00000313683	NM_018215.3	405	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33059.1	1215	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCGAGGGGC	NONE	byFrequency	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21	.	.	ENSP00000318131	.	2/3	.	.	.	.	.	.	.	.	rs779646532	2/3	nonpreferredpair	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,synonymous_variant,p.%3D,ENST00000313683,;PNMAL1,intron_variant,,ENST00000602246,;PNMAL1,intron_variant,,ENST00000438932,;	1521	40	45	SUCCESS
STRN4	29888	.	GRCh37	19	47231256	47231256	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs773782293	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	52	0	ENST00000263280.6:c.1048C>G	p.Arg350Gly	p.R350G	ENST00000263280	NM_013403.2	350	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS42581.1	1048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGACGGC	NONE	.	.	hmmpanther:PTHR15653:SF1,hmmpanther:PTHR15653	.	.	ENSP00000375777	.	8/18	.	.	.	.	.	.	.	.	rs773782293	8/18	nonpreferredpair	ENST00000391910	Transcript	.	.	ENSG00000090372	15721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	.	STRN4	HGNC	M0QYS2_HUMAN,Q59GV6_HUMAN,M0R2A7_HUMAN,M0R0P4_HUMAN,M0QXN2_HUMAN,F8VYA6_HUMAN,B3KPF6_HUMAN	.	UPI00006CA35B	SNV	STRN4,missense_variant,p.Arg231Gly,ENST00000539396,;STRN4,missense_variant,p.Arg350Gly,ENST00000263280,;STRN4,missense_variant,p.Arg350Gly,ENST00000391910,;STRN4,upstream_gene_variant,,ENST00000600615,;STRN4,downstream_gene_variant,,ENST00000593979,;STRN4,upstream_gene_variant,,ENST00000594287,;CTB-174O21.2,upstream_gene_variant,,ENST00000600716,;STRN4,non_coding_transcript_exon_variant,,ENST00000602223,;STRN4,non_coding_transcript_exon_variant,,ENST00000594357,;STRN4,downstream_gene_variant,,ENST00000602397,;STRN4,downstream_gene_variant,,ENST00000596016,;STRN4,missense_variant,p.Arg200Gly,ENST00000600358,;STRN4,3_prime_UTR_variant,,ENST00000435164,;STRN4,non_coding_transcript_exon_variant,,ENST00000595357,;STRN4,non_coding_transcript_exon_variant,,ENST00000594847,;STRN4,non_coding_transcript_exon_variant,,ENST00000599231,;STRN4,non_coding_transcript_exon_variant,,ENST00000601631,;STRN4,downstream_gene_variant,,ENST00000594704,;STRN4,upstream_gene_variant,,ENST00000594581,;STRN4,upstream_gene_variant,,ENST00000598074,;	1499	52	43	SUCCESS
LILRB1	10859	.	GRCh37	19	55148029	55148029	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370268778	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	133	0	ENST00000324602.7:c.1738C>T	p.Pro580Ser	p.P580S	ENST00000324602	NM_001278399.1	580	Cct/Tct	0	G:0	.	.	.	.	T	P/S	protein_coding	YES	CCDS42614.1	1738	MUTECT|MUSE|VARSCANS	.	CTCCTCCTTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89	.	G:0.0001	ENSP00000315997	.	14/15	.	.	.	.	.	.	.	.	rs370268778,COSM1631087	14/15	nonpreferredpair	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.624)	.	deleterious(0.04)	0,1	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,missense_variant,p.Pro562Ser,ENST00000396317,;LILRB1,missense_variant,p.Pro578Ser,ENST00000396331,;LILRB1,missense_variant,p.Pro580Ser,ENST00000396315,;LILRB1,missense_variant,p.Pro629Ser,ENST00000427581,;LILRB1,missense_variant,p.Pro579Ser,ENST00000396327,;LILRB1,missense_variant,p.Pro562Ser,ENST00000418536,;LILRB1,missense_variant,p.Pro578Ser,ENST00000434867,;LILRB1,missense_variant,p.Pro580Ser,ENST00000324602,;LILRB1,missense_variant,p.Pro579Ser,ENST00000396332,;LILRB1,missense_variant,p.Pro578Ser,ENST00000396321,;LILRB1,3_prime_UTR_variant,,ENST00000448689,;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	1963	133	105	SUCCESS
ZNF324B	388569	.	GRCh37	19	58967301	58967301	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	66	0	ENST00000336614.4:c.990G>T	p.Arg330=	p.R330=	ENST00000336614	NM_207395.2	330	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33138.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGGCACCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337473	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000336614	Transcript	.	.	ENSG00000249471	33107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z324B_HUMAN	ZNF324B	HGNC	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN	.	UPI000022AA2D	SNV	ZNF324B,synonymous_variant,p.%3D,ENST00000336614,;ZNF324B,synonymous_variant,p.%3D,ENST00000391696,;ZNF324B,synonymous_variant,p.%3D,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000599194,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000598244,;	1097	66	74	SUCCESS
R3HDM4	91300	.	GRCh37	19	900139	900139	+	synonymous_variant	Silent	SNP	G	G	A	rs199817764	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	35	0	ENST00000361574.5:c.483C>T	p.Pro161=	p.P161=	ENST00000361574	NM_138774.3	161	ccC/ccT	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS12048.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGGGGTC	BUFFER|p.A162T|c.484G>A|3	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32019:SF2,hmmpanther:PTHR32019,Pfam_domain:PF13902,Superfamily_domains:SSF82708	A:0.006	.	ENSP00000355385	A:0	5/8	.	.	.	.	.	.	.	.	rs199817764	5/8	common_in_exac,nonpreferredpair	ENST00000361574	Transcript	.	A:0.0016	ENSG00000198858	28270	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	R3HD4_HUMAN	R3HDM4	HGNC	.	.	UPI00001B50F1	SNV	R3HDM4,synonymous_variant,p.%3D,ENST00000587975,;R3HDM4,synonymous_variant,p.%3D,ENST00000361574,;R3HDM4,3_prime_UTR_variant,,ENST00000590454,;R3HDM4,3_prime_UTR_variant,,ENST00000589428,;R3HDM4,non_coding_transcript_exon_variant,,ENST00000586080,;R3HDM4,downstream_gene_variant,,ENST00000591829,;R3HDM4,downstream_gene_variant,,ENST00000589445,;R3HDM4,downstream_gene_variant,,ENST00000590259,;	557	35	42	SUCCESS
SLC16A4	9122	.	GRCh37	1	110931976	110931976	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	DEL	C	C	-	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	31	71	0	ENST00000369779.4:c.-31del		p.X11_splice	ENST00000369779	NM_001201547.1	11		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS823.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGATCCCTGT	NONE	.	.	.	.	.	ENSP00000358794	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000369779	Transcript	.	.	ENSG00000168679	10925	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MOT5_HUMAN	SLC16A4	HGNC	.	.	UPI000004EE9B	deletion	SLC16A4,splice_region_variant,,ENST00000369781,;SLC16A4,splice_region_variant,,ENST00000369779,;SLC16A4,splice_region_variant,,ENST00000541986,;SLC16A4,splice_region_variant,,ENST00000472422,;SLC16A4,splice_region_variant,,ENST00000437429,;LAMTOR5-AS1,intron_variant,,ENST00000590413,;SLC16A4,splice_region_variant,,ENST00000497687,;SLC16A4,splice_region_variant,,ENST00000492412,;SLC16A4,splice_region_variant,,ENST00000528649,;SLC16A4,splice_region_variant,,ENST00000461647,;	220	71	104	SUCCESS
ST7L	54879	.	GRCh37	1	113140691	113140691	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	48	100	2	ENST00000358039.4:c.524G>A	p.Gly175Asp	p.G175D	ENST00000358039	NM_138727.3	175	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS848.1	524	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTACCAGTC	NONE	.	.	hmmpanther:PTHR12745:SF4,hmmpanther:PTHR12745,Pfam_domain:PF04184	.	.	ENSP00000350734	.	5/15	.	.	.	.	.	.	.	.	.	5/15	nonpreferredpair	ENST00000358039	Transcript	.	.	ENSG00000007341	18441	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.05)	.	ST7L_HUMAN	ST7L	HGNC	.	.	UPI000006D137	SNV	ST7L,missense_variant,p.Gly175Asp,ENST00000360743,;ST7L,missense_variant,p.Gly175Asp,ENST00000358039,;ST7L,missense_variant,p.Gly158Asp,ENST00000369666,;ST7L,missense_variant,p.Gly158Asp,ENST00000543570,;ST7L,missense_variant,p.Gly158Asp,ENST00000490067,;ST7L,missense_variant,p.Gly175Asp,ENST00000343210,;ST7L,missense_variant,p.Gly119Asp,ENST00000369664,;ST7L,missense_variant,p.Gly175Asp,ENST00000369668,;ST7L,missense_variant,p.Gly47Asp,ENST00000418497,;ST7L,missense_variant,p.Gly119Asp,ENST00000538187,;ST7L,5_prime_UTR_variant,,ENST00000369669,;ST7L,intron_variant,,ENST00000544629,;ST7L,non_coding_transcript_exon_variant,,ENST00000459630,;ST7L,non_coding_transcript_exon_variant,,ENST00000497235,;ST7L,non_coding_transcript_exon_variant,,ENST00000480988,;ST7L,non_coding_transcript_exon_variant,,ENST00000497457,;ST7L,non_coding_transcript_exon_variant,,ENST00000463235,;ST7L,non_coding_transcript_exon_variant,,ENST00000479436,;ST7L,non_coding_transcript_exon_variant,,ENST00000470519,;ST7L,intron_variant,,ENST00000466360,;ST7L,missense_variant,p.Gly175Asp,ENST00000361846,;ST7L,missense_variant,p.Gly175Asp,ENST00000490715,;	829	102	121	SUCCESS
LCE4A	199834	.	GRCh37	1	152681721	152681721	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776211524	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	30	60	0	ENST00000335535.3:c.170G>A	p.Gly57Asp	p.G57D	ENST00000335535	NM_178356.2	57	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1022.1	170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF25,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000357766	.	2/2	.	.	.	.	.	.	.	.	rs776211524	2/2	nonpreferredpair	ENST00000368777	Transcript	.	.	ENSG00000187170	16613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.17)	.	LCE4A_HUMAN	LCE4A	HGNC	.	.	UPI0000192763	SNV	LCE4A,missense_variant,p.Gly57Asp,ENST00000368777,;LCE4A,missense_variant,p.Gly57Asp,ENST00000335535,;	426	60	108	SUCCESS
PMVK	10654	.	GRCh37	1	154909135	154909135	+	synonymous_variant	Silent	SNP	C	C	A	rs148862572	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	29	0	ENST00000368467.3:c.27G>T	p.Arg9=	p.R9=	ENST00000368467	NM_006556.3	9	cgG/cgT	0	A:0.0002	.	.	.	.	A	R	protein_coding	YES	CCDS1073.1	27	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCGCGG	NONE	.	.	hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,PIRSF_domain:PIRSF036639	.	A:0	ENSP00000357452	.	1/5	.	.	.	.	.	.	.	.	rs148862572	1/5	nonpreferredpair	ENST00000368467	Transcript	.	.	ENSG00000163344	9141	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMVK_HUMAN	PMVK	HGNC	Q6FGV9_HUMAN	.	UPI000013E263	SNV	PMVK,synonymous_variant,p.%3D,ENST00000368467,;RP11-307C12.13,upstream_gene_variant,,ENST00000604546,;	333	29	57	SUCCESS
PMVK	10654	.	GRCh37	1	154909136	154909136	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	28	0	ENST00000368467.3:c.26G>T	p.Arg9Leu	p.R9L	ENST00000368467	NM_006556.3	9	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS1073.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGCGGG	NONE	.	.	hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,PIRSF_domain:PIRSF036639	.	.	ENSP00000357452	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000368467	Transcript	.	.	ENSG00000163344	9141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.08)	.	PMVK_HUMAN	PMVK	HGNC	Q6FGV9_HUMAN	.	UPI000013E263	SNV	PMVK,missense_variant,p.Arg9Leu,ENST00000368467,;RP11-307C12.13,upstream_gene_variant,,ENST00000604546,;	332	28	57	SUCCESS
FBXO42	54455	.	GRCh37	1	16621087	16621087	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	12	0	ENST00000375592.3:c.502+191T>C		p.*168*	ENST00000375592	NM_018994.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30613.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATAAAGTA	NONE	.	.	.	.	.	ENSP00000364742	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	SNV	FBXO42,intron_variant,,ENST00000375592,;FBXO42,non_coding_transcript_exon_variant,,ENST00000478089,;	.	12	19	SUCCESS
TNR	7143	.	GRCh37	1	175335180	175335180	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	60	111	2	ENST00000263525.2:c.2148C>T	p.Tyr716=	p.Y716=	ENST00000263525	NM_003285.2	716	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS1318.1	2148	SOMATICSNIPER|VARSCANS	.	ATTCGGTAGTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	11/23	.	.	.	.	.	.	.	.	.	11/23	nonpreferredpair	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,synonymous_variant,p.%3D,ENST00000367674,;TNR,synonymous_variant,p.%3D,ENST00000263525,;	2857	113	192	SUCCESS
RCC2	55920	.	GRCh37	1	17755651	17755651	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	63	83	1	ENST00000375433.3:c.330G>A	p.Gly110=	p.G110=	ENST00000375433	NM_001136204.2	110	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS181.1	330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCCCAAA	NONE	.	.	hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF146,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000364585	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000375436	Transcript	.	.	ENSG00000179051	30297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCC2_HUMAN	RCC2	HGNC	.	.	UPI0000074608	SNV	RCC2,synonymous_variant,p.%3D,ENST00000375436,;RCC2,synonymous_variant,p.%3D,ENST00000375433,;	518	84	122	SUCCESS
SLC45A3	85414	.	GRCh37	1	205632672	205632672	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	48	0	ENST00000367145.3:c.247G>A	p.Gly83Ser	p.G83S	ENST00000367145	NM_033102.2	83	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1458.1	247	MUTECT|MUSE	.	GCGGCCATAGC	NONE	.	.	hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000356113	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000367145	Transcript	.	.	ENSG00000158715	8642	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S45A3_HUMAN	SLC45A3	HGNC	Q658X7_HUMAN,A8K2U9_HUMAN	.	UPI0000039836	SNV	SLC45A3,missense_variant,p.Gly83Ser,ENST00000367145,;SLC45A3,upstream_gene_variant,,ENST00000460934,;	543	48	53	SUCCESS
SLFNL1	200172	.	GRCh37	1	41483397	41483397	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	65	0	ENST00000302946.8:c.867G>A	p.Leu289=	p.L289=	ENST00000302946		289	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS460.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAGGAT	NONE	.	.	Pfam_domain:PF04326,hmmpanther:PTHR12155:SF19,hmmpanther:PTHR12155	.	.	ENSP00000352299	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000359345	Transcript	.	.	ENSG00000171790	26313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLNL1_HUMAN	SLFNL1	HGNC	.	.	UPI000013E83F	SNV	SLFNL1,synonymous_variant,p.%3D,ENST00000302946,;SLFNL1,synonymous_variant,p.%3D,ENST00000397197,;SLFNL1,synonymous_variant,p.%3D,ENST00000372613,;SLFNL1,synonymous_variant,p.%3D,ENST00000439569,;SLFNL1,synonymous_variant,p.%3D,ENST00000372611,;SLFNL1,synonymous_variant,p.%3D,ENST00000359345,;	3444	65	69	SUCCESS
C8B	732	.	GRCh37	1	57406665	57406665	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766702799	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	49	0	ENST00000371237.4:c.1255A>G	p.Met419Val	p.M419V	ENST00000371237	NM_000066.3	419	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS30730.1	1255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGGTGT	BUFFER|p.D417N|c.1249G>A|3	.	.	PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF313,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000360281	.	9/12	.	.	.	.	.	.	.	.	rs766702799	9/12	nonpreferredpair	ENST00000371237	Transcript	.	.	ENSG00000021852	1353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.45)	.	CO8B_HUMAN	C8B	HGNC	F5H7G1_HUMAN	.	UPI000013C9B2	SNV	C8B,missense_variant,p.Met357Val,ENST00000535057,;C8B,missense_variant,p.Met367Val,ENST00000543257,;C8B,missense_variant,p.Met419Val,ENST00000371237,;	1322	49	58	SUCCESS
DAB1	1600	.	GRCh37	1	57537253	57537253	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	73	0	ENST00000371231.1:c.500G>A	p.Arg167Lys	p.R167K	ENST00000371231		167	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS607.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCTTTGC	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR11232:SF40,hmmpanther:PTHR11232,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000360280	.	6/15	.	.	.	.	.	.	.	.	COSM1687773	6/15	nonpreferredpair	ENST00000371236	Transcript	.	.	ENSG00000173406	2661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.062)	.	tolerated(0.61)	1	DAB1_HUMAN	DAB1	HGNC	.	.	UPI000013EE33	SNV	DAB1,missense_variant,p.Arg167Lys,ENST00000414851,;DAB1,missense_variant,p.Arg167Lys,ENST00000371236,;DAB1,missense_variant,p.Arg167Lys,ENST00000332102,;DAB1,missense_variant,p.Arg167Lys,ENST00000371231,;DAB1,missense_variant,p.Arg167Lys,ENST00000420954,;DAB1,missense_variant,p.Arg167Lys,ENST00000371230,;DAB1,missense_variant,p.Arg167Lys,ENST00000371234,;DAB1,intron_variant,,ENST00000371232,;DAB1,intron_variant,,ENST00000439789,;DAB1,non_coding_transcript_exon_variant,,ENST00000489267,;DAB1,non_coding_transcript_exon_variant,,ENST00000485760,;	764	73	49	SUCCESS
C1orf170	0	.	GRCh37	1	914598	914598	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	69	85	1	ENST00000433179.2:c.1530T>C	p.Gly510=	p.G510=	ENST00000433179		510	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	.	1530	RADIA|MUTECT|MUSE	.	TCCTGACCGGC	NONE	.	.	hmmpanther:PTHR21712:SF30,hmmpanther:PTHR21712	.	.	ENSP00000414022	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000433179	Transcript	.	.	ENSG00000187642	28208	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA170_HUMAN	C1orf170	HGNC	.	.	UPI0000418FB0	SNV	C1orf170,synonymous_variant,p.%3D,ENST00000341290,;C1orf170,synonymous_variant,p.%3D,ENST00000433179,;PLEKHN1,downstream_gene_variant,,ENST00000491024,;PLEKHN1,downstream_gene_variant,,ENST00000379409,;PLEKHN1,downstream_gene_variant,,ENST00000379407,;PLEKHN1,downstream_gene_variant,,ENST00000379410,;C1orf170,upstream_gene_variant,,ENST00000479361,;	1530	86	125	SUCCESS
ABCA4	24	.	GRCh37	1	94564351	94564351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1265780497	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	45	0	ENST00000370225.3:c.767T>C	p.Val256Ala	p.V256A	ENST00000370225	NM_000350.2	256	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS747.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCACACGG	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	6/50	.	.	.	.	.	.	.	.	.	6/50	nonpreferredpair	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	tolerated(0.62)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Val256Ala,ENST00000370225,;ABCA4,missense_variant,p.Val256Ala,ENST00000535735,;	854	45	48	SUCCESS
ADRA1D	146	.	GRCh37	20	4228867	4228867	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs140080149	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	88	0	ENST00000379453.4:c.738C>A	p.Cys246Ter	p.C246*	ENST00000379453	NM_000678.3	246	tgC/tgA	0	A:0.0096	A:0.0106	.	A:0	.	T	C/*	protein_coding	YES	CCDS13079.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCGCAGAA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,PROSITE_profiles:PS50262	A:0	A:0	ENSP00000368766	A:0	1/2	.	.	.	.	.	.	.	.	rs140080149	1/2	nonpreferredpair	ENST00000379453	Transcript	.	A:0.0028	ENSG00000171873	280	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,stop_gained,p.Cys246Ter,ENST00000379453,;	855	89	80	SUCCESS
SLC9A8	23315	.	GRCh37	20	48497559	48497559	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	32	93	1	ENST00000361573.2:c.1257C>T	p.Ile419=	p.I419=	ENST00000361573		419	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS58774.1	1305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCATGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000416418	.	13/16	.	.	.	.	.	.	.	.	.	13/16	nonpreferredpair	ENST00000417961	Transcript	.	.	ENSG00000197818	20728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9A8_HUMAN	SLC9A8	HGNC	B7Z3B1_HUMAN,B4DIV9_HUMAN	.	UPI00017A7E08	SNV	SLC9A8,synonymous_variant,p.%3D,ENST00000541138,;SLC9A8,synonymous_variant,p.%3D,ENST00000539601,;SLC9A8,synonymous_variant,p.%3D,ENST00000417961,;SLC9A8,synonymous_variant,p.%3D,ENST00000361573,;	1515	94	105	SUCCESS
PHACTR3	116154	.	GRCh37	20	58349512	58349512	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	52	1	ENST00000371015.1:c.1141G>A	p.Asp381Asn	p.D381N	ENST00000371015	NM_080672.4	381	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS13480.1	1141	RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGACGAG	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	7/13	.	.	.	.	.	.	.	.	.	7/13	nonpreferredpair	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0.03)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Asp340Asn,ENST00000355648,;PHACTR3,missense_variant,p.Asp340Asn,ENST00000541461,;PHACTR3,missense_variant,p.Asp270Asn,ENST00000361300,;PHACTR3,missense_variant,p.Asp340Asn,ENST00000395636,;PHACTR3,missense_variant,p.Asp381Asn,ENST00000371015,;PHACTR3,missense_variant,p.Asp270Asn,ENST00000395639,;PHACTR3,missense_variant,p.Asp378Asn,ENST00000359926,;	1608	53	51	SUCCESS
ZNF512B	57473	.	GRCh37	20	62594086	62594086	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	57	0	ENST00000217130.3:c.2017G>A	p.Gly673Ser	p.G673S	ENST00000217130		673	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13548.1	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACCCAGCG	NONE	.	.	hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3	.	.	ENSP00000393795	.	13/17	.	.	.	.	.	.	.	.	.	13/17	nonpreferredpair	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.19)	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	SNV	ZNF512B,missense_variant,p.Gly673Ser,ENST00000450537,;ZNF512B,missense_variant,p.Gly673Ser,ENST00000217130,;ZNF512B,missense_variant,p.Gly673Ser,ENST00000369888,;	2078	57	65	SUCCESS
EIF4ENIF1	56478	.	GRCh37	22	31845450	31845450	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	64	0	ENST00000330125.5:c.1652T>G	p.Leu551Trp	p.L551W	ENST00000330125	NM_019843.3	551	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS13898.1	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAAGCTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF10477,hmmpanther:PTHR12269	.	.	ENSP00000380659	.	12/19	.	.	.	.	.	.	.	.	.	12/19	nonpreferredpair	ENST00000397525	Transcript	.	.	ENSG00000184708	16687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	4ET_HUMAN	EIF4ENIF1	HGNC	B1AKL6_HUMAN,B1AKL5_HUMAN	.	UPI0000124F14	SNV	EIF4ENIF1,missense_variant,p.Leu206Trp,ENST00000382180,;EIF4ENIF1,missense_variant,p.Leu376Trp,ENST00000344710,;EIF4ENIF1,missense_variant,p.Leu551Trp,ENST00000397525,;EIF4ENIF1,missense_variant,p.Leu527Trp,ENST00000397523,;EIF4ENIF1,missense_variant,p.Leu551Trp,ENST00000330125,;EIF4ENIF1,intron_variant,,ENST00000418321,;RP11-247I13.11,upstream_gene_variant,,ENST00000464523,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000495101,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000487671,;DRG1,intron_variant,,ENST00000548143,;EIF4ENIF1,upstream_gene_variant,,ENST00000445424,;	1876	64	69	SUCCESS
EP300	2033	.	GRCh37	22	41574846	41574846	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	68	0	ENST00000263253.7:c.7131T>C	p.Ala2377=	p.A2377=	ENST00000263253	NM_001429.3	2377	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS14010.1	7131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCTAGCAA	NONE	.	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4	.	.	ENSP00000263253	.	31/31	.	.	.	.	.	.	.	.	.	31/31	nonpreferredpair	ENST00000263253	Transcript	.	.	ENSG00000100393	3373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP300_HUMAN	EP300	HGNC	B5A250_HUMAN	.	UPI00001AE876	SNV	EP300,synonymous_variant,p.%3D,ENST00000263253,;RP1-85F18.5,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;	8350	68	59	SUCCESS
CELSR1	9620	.	GRCh37	22	46782348	46782348	+	synonymous_variant	Silent	SNP	G	G	A	rs147425309	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	51	55	0	ENST00000262738.3:c.6690C>T	p.Asn2230=	p.N2230=	ENST00000262738	NM_014246.1	2230	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS14076.1	6690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCACGTTGCG	NONE	byCluster	.	Pfam_domain:PF12003,hmmpanther:PTHR24026	.	A:0.0001	ENSP00000262738	.	19/35	.	.	.	.	.	.	.	.	rs147425309	19/35	nonpreferredpair	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,synonymous_variant,p.%3D,ENST00000262738,;	6690	55	89	SUCCESS
SNTG2	54221	.	GRCh37	2	1204904	1204904	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200559818	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	33	46	0	ENST00000308624.5:c.707C>A	p.Thr236Lys	p.T236K	ENST00000308624	NM_018968.3	236	aCg/aAg	0	T:0.0003	.	.	.	.	A	T/K	protein_coding	YES	CCDS46220.1	707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAACGGAAA	NONE	byCluster	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	T:0.0001	ENSP00000311837	.	9/17	.	.	.	.	.	.	.	.	rs200559818,COSM716043	9/17	nonpreferredpair	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.046)	.	deleterious(0.02)	0,1	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Thr236Lys,ENST00000308624,;SNTG2,missense_variant,p.Thr109Lys,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000467759,;SNTG2,non_coding_transcript_exon_variant,,ENST00000463442,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;SNTG2,non_coding_transcript_exon_variant,,ENST00000498321,;SNTG2,intron_variant,,ENST00000475201,;	836	46	59	SUCCESS
BAZ2B	29994	.	GRCh37	2	160206490	160206490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372658436	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	10	98	0	ENST00000392783.2:c.4592C>T	p.Thr1531Ile	p.T1531I	ENST00000392783	NM_013450.2	1531	aCt/aTt	0	C:0	.	.	.	.	A	T/I	protein_coding	YES	CCDS2209.2	4592	MUTECT|MUSE|VARSCANS	.	AACCAGTATTA	NONE	byCluster	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144	.	C:0.0001	ENSP00000376534	.	28/37	.	.	.	.	.	.	.	.	rs372658436	28/37	nonpreferredpair	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.056)	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,missense_variant,p.Thr1497Ile,ENST00000355831,;BAZ2B,missense_variant,p.Thr1495Ile,ENST00000392782,;BAZ2B,missense_variant,p.Thr1431Ile,ENST00000343439,;BAZ2B,missense_variant,p.Thr1531Ile,ENST00000392783,;BAZ2B,upstream_gene_variant,,ENST00000426648,;BAZ2B,upstream_gene_variant,,ENST00000474437,;	5088	98	124	SUCCESS
KCNS3	3790	.	GRCh37	2	18113275	18113275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	69	0	ENST00000304101.4:c.1000G>T	p.Gly334Cys	p.G334C	ENST00000304101	NM_002252.3	334	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS1692.1	1000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGGCATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01491	.	.	ENSP00000385968	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000403915	Transcript	.	.	ENSG00000170745	6302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNS3_HUMAN	KCNS3	HGNC	C9J187_HUMAN	.	UPI000013E93A	SNV	KCNS3,missense_variant,p.Gly334Cys,ENST00000304101,;KCNS3,missense_variant,p.Gly334Cys,ENST00000403915,;KCNS3,downstream_gene_variant,,ENST00000419802,;KCNS3,intron_variant,,ENST00000465292,;	1451	69	96	SUCCESS
C2orf47	0	.	GRCh37	2	200820961	200820961	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	37	0	ENST00000295079.2:c.440G>T	p.Gly147Val	p.G147V	ENST00000295079	NM_024520.2	147	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2329.1	440	MUTECT|MUSE	.	CGAGGGAGCGA	NONE	.	.	hmmpanther:PTHR13333,hmmpanther:PTHR13333:SF5	.	.	ENSP00000295079	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000295079	Transcript	.	.	ENSG00000162972	26198	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	CB047_HUMAN	C2orf47	HGNC	.	.	UPI000006F16D	SNV	C2orf47,missense_variant,p.Gly147Val,ENST00000295079,;C2orf47,missense_variant,p.Gly147Val,ENST00000392290,;C2orf47,missense_variant,p.Gly140Val,ENST00000435773,;TYW5,upstream_gene_variant,,ENST00000354611,;C2orf47,upstream_gene_variant,,ENST00000469156,;TYW5,upstream_gene_variant,,ENST00000452512,;C2orf69,downstream_gene_variant,,ENST00000491721,;TYW5,upstream_gene_variant,,ENST00000483328,;TYW5,upstream_gene_variant,,ENST00000493181,;TYW5,upstream_gene_variant,,ENST00000441832,;	762	37	17	SUCCESS
KLHL29	114818	.	GRCh37	2	23865257	23865257	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	46	94	0	ENST00000486442.1:c.477G>T	p.Leu159=	p.L159=	ENST00000486442	NM_052920.1	159	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54335.1	477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGATTGC	NONE	.	.	.	.	.	ENSP00000420659	.	5/14	.	.	.	.	.	.	.	.	.	5/14	nonpreferredpair	ENST00000486442	Transcript	.	.	ENSG00000119771	29404	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH29_HUMAN	KLHL29	HGNC	Q53T86_HUMAN	.	UPI000058F1B6	SNV	KLHL29,synonymous_variant,p.%3D,ENST00000486442,;KLHL29,upstream_gene_variant,,ENST00000288548,;KLHL29,non_coding_transcript_exon_variant,,ENST00000489446,;	1194	94	107	SUCCESS
CYP1B1	1545	.	GRCh37	2	38301745	38301745	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	9	169	0	ENST00000260630.3:c.787C>T	p.Gln263Ter	p.Q263*	ENST00000260630	NM_000104.3	263	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1793.1	787	MUTECT|MUSE	.	GAGCTGCTCGA	NONE	.	.	hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF0,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000260630	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000260630	Transcript	.	.	ENSG00000138061	2597	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP1B1_HUMAN	CYP1B1	HGNC	Q53TK1_HUMAN,D0EZN8_HUMAN,B8YIA8_HUMAN,B8YIA4_HUMAN	.	UPI000006222C	SNV	CYP1B1,stop_gained,p.Gln263Ter,ENST00000407341,;CYP1B1,stop_gained,p.Gln263Ter,ENST00000260630,;CYP1B1-AS1,upstream_gene_variant,,ENST00000589303,;CYP1B1-AS1,upstream_gene_variant,,ENST00000431999,;CYP1B1,intron_variant,,ENST00000462864,;CYP1B1,intron_variant,,ENST00000494864,;CYP1B1,downstream_gene_variant,,ENST00000490576,;CYP1B1,upstream_gene_variant,,ENST00000492443,;CYP1B1,upstream_gene_variant,,ENST00000491456,;	1189	169	175	SUCCESS
KCNG3	170850	.	GRCh37	2	42671125	42671125	+	synonymous_variant	Silent	SNP	C	C	T	rs754970614	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	66	210	2	ENST00000306078.1:c.1260G>A	p.Lys420=	p.K420=	ENST00000306078	NM_133329.5	420	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS1809.1	1260	RADIA|SOMATICSNIPER|VARSCANS	.	CTAAACTTGAG	NONE	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF91	.	.	ENSP00000304127	.	2/2	.	.	.	.	.	.	.	.	rs754970614	2/2	nonpreferredpair	ENST00000306078	Transcript	.	.	ENSG00000171126	18306	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNG3_HUMAN	KCNG3	HGNC	.	.	UPI00000557D9	SNV	KCNG3,synonymous_variant,p.%3D,ENST00000306078,;KCNG3,synonymous_variant,p.%3D,ENST00000394973,;SNORD75,downstream_gene_variant,,ENST00000408373,;	1856	212	189	SUCCESS
CHST13	166012	.	GRCh37	3	126260674	126260674	+	synonymous_variant	Silent	SNP	G	G	A	rs778742193	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	58	0	ENST00000319340.2:c.279G>A	p.Pro93=	p.P93=	ENST00000319340	NM_152889.2	93	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3039.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGAGGA	NONE	.	.	hmmpanther:PTHR12137:SF31,hmmpanther:PTHR12137	.	.	ENSP00000317404	.	3/3	.	.	.	.	.	.	.	.	rs778742193	3/3	nonpreferredpair	ENST00000319340	Transcript	.	.	ENSG00000180767	21755	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTD_HUMAN	CHST13	HGNC	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN	.	UPI00000492E5	SNV	CHST13,synonymous_variant,p.%3D,ENST00000319340,;C3orf22,intron_variant,,ENST00000505070,;	329	58	43	SUCCESS
PLCH1	23007	.	GRCh37	3	155200721	155200721	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	7	79	0	ENST00000340059.7:c.3118G>A	p.Gly1040Arg	p.G1040R	ENST00000340059	NM_001130960.1	1040	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46939.1	3118	MUTECT|MUSE	.	GTCCCCTTGGC	NONE	.	.	.	.	.	ENSP00000345988	.	23/23	.	.	.	.	.	.	.	.	.	23/23	nonpreferredpair	ENST00000340059	Transcript	.	.	ENSG00000114805	29185	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.58)	.	PLCH1_HUMAN	PLCH1	HGNC	.	.	UPI00001D800E	SNV	PLCH1,missense_variant,p.Gly1002Arg,ENST00000334686,;PLCH1,missense_variant,p.Gly1002Arg,ENST00000414191,;PLCH1,missense_variant,p.Gly1040Arg,ENST00000340059,;PLCH1,missense_variant,p.Gly1002Arg,ENST00000460012,;PLCH1,3_prime_UTR_variant,,ENST00000447496,;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	3118	79	96	SUCCESS
ARL14	80117	.	GRCh37	3	160395171	160395171	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	11	162	0	ENST00000320767.2:c.37C>T	p.Gln13Ter	p.Q13*	ENST00000320767	NM_025047.2	13	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3192.1	37	MUTECT|MUSE	.	CCAAACAAGCC	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF29,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	.	.	ENSP00000323847	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000320767	Transcript	.	.	ENSG00000179674	22974	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARL14_HUMAN	ARL14	HGNC	.	.	UPI000007256C	SNV	ARL14,stop_gained,p.Gln13Ter,ENST00000320767,;	224	162	200	SUCCESS
PIK3CA	5290	.	GRCh37	3	178938934	178938934	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs867262025	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	91	269	2	ENST00000263967.3:c.2176G>A	p.Glu726Lys	p.E726K	ENST00000263967	NM_006218.2	726	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43171.1	2176	RADIA|VARSCANS	.	AGGATGAAACA	SITE|p.E726K|c.2176G>A|22,SITE|p.E726K|c.2176G>A|21,BUFFER|p.E726G|c.2177A>G|4,BUFFER|p.E726G|c.2177A>G|4	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112	.	.	ENSP00000263967	.	14/21	.	.	.	.	.	.	.	.	COSM87306,COSM446019	14/21	nonpreferredpair	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.4)	.	tolerated(0.36)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Glu726Lys,ENST00000263967,;PIK3CA,non_coding_transcript_exon_variant,,ENST00000462255,;	2333	271	249	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64085071	64085071	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs148689951	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	66	1	ENST00000295902.6:c.2191A>G	p.Ser731Gly	p.S731G	ENST00000295902	NM_198859.3	731	Agc/Ggc	0	C:0.0032	C:0.0023	.	C:0	.	C	S/G	protein_coding	YES	CCDS2902.1	2191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GAAGCTCCGCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218	C:0	C:0	ENSP00000295902	C:0	8/8	.	.	.	.	.	.	.	.	rs148689951	8/8	nonpreferredpair	ENST00000295902	Transcript	.	C:0.0006	ENSG00000163637	20340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	C:0	tolerated(0.49)	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,missense_variant,p.Ser731Gly,ENST00000295902,;PRICKLE2,missense_variant,p.Ser787Gly,ENST00000564377,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000476308,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;	2777	67	69	SUCCESS
BBS7	55212	.	GRCh37	4	122780281	122780281	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	66	205	0	ENST00000264499.4:c.394T>C	p.Tyr132His	p.Y132H	ENST00000264499	NM_176824.2	132	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS3724.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATAATGGT	NONE	.	.	hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,Gene3D:2.130.10.10,PIRSF_domain:PIRSF011091,Superfamily_domains:SSF50978	.	.	ENSP00000264499	.	5/19	.	.	.	.	.	.	.	.	.	5/19	nonpreferredpair	ENST00000264499	Transcript	1	.	ENSG00000138686	18758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BBS7_HUMAN	BBS7	HGNC	H0Y973_HUMAN	.	UPI00001684D7	SNV	BBS7,missense_variant,p.Tyr132His,ENST00000264499,;BBS7,missense_variant,p.Tyr132His,ENST00000506636,;BBS7,non_coding_transcript_exon_variant,,ENST00000505692,;BBS7,downstream_gene_variant,,ENST00000502444,;BBS7,upstream_gene_variant,,ENST00000508536,;	578	205	192	SUCCESS
ANXA10	11199	.	GRCh37	4	169108554	169108554	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747923178	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	320	38	318	0	ENST00000359299.3:c.944C>T	p.Ala315Val	p.A315V	ENST00000359299	NM_007193.4	315	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34096.1	944	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGCCATCT	NONE	byFrequency	.	hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF100,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR01809,Prints_domain:PR00196	.	.	ENSP00000352248	.	12/12	.	.	.	.	.	.	.	.	rs747923178	12/12	nonpreferredpair	ENST00000359299	Transcript	.	.	ENSG00000109511	534	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.672)	.	tolerated(0.14)	.	ANX10_HUMAN	ANXA10	HGNC	.	.	UPI0000169E98	SNV	ANXA10,missense_variant,p.Ala315Val,ENST00000359299,;ANXA10,non_coding_transcript_exon_variant,,ENST00000507278,;	1130	318	358	SUCCESS
NOA1	84273	.	GRCh37	4	57842963	57842963	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	56	0	ENST00000264230.4:c.789G>A	p.Arg263=	p.R263=	ENST00000264230	NM_032313.2	263	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3510.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCCTCTG	NONE	.	.	PROSITE_profiles:PS51721,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF33,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000264230	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000264230	Transcript	.	.	ENSG00000084092	28473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOA1_HUMAN	NOA1	HGNC	.	.	UPI000006DAEE	SNV	NOA1,synonymous_variant,p.%3D,ENST00000264230,;POLR2B,upstream_gene_variant,,ENST00000433463,;POLR2B,upstream_gene_variant,,ENST00000450656,;POLR2B,upstream_gene_variant,,ENST00000441246,;POLR2B,upstream_gene_variant,,ENST00000431623,;POLR2B,upstream_gene_variant,,ENST00000381227,;POLR2B,upstream_gene_variant,,ENST00000314595,;POLR2B,upstream_gene_variant,,ENST00000495311,;POLR2B,upstream_gene_variant,,ENST00000497845,;	2027	56	58	SUCCESS
MARCH6	0	.	GRCh37	5	10402495	10402495	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	73	195	0	ENST00000274140.5:c.1054-1G>A		p.X352_splice	ENST00000274140	NM_005885.3	352		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34135.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAGGGCTT	NONE	.	.	.	.	.	ENSP00000274140	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000274140	Transcript	.	.	ENSG00000145495	30550	.	.	HIGH	12/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARH6_HUMAN	MARCH6	HGNC	.	.	UPI00001B94D6	SNV	MARCH6,splice_acceptor_variant,,ENST00000449913,;MARCH6,splice_acceptor_variant,,ENST00000510792,;MARCH6,splice_acceptor_variant,,ENST00000274140,;MARCH6,splice_acceptor_variant,,ENST00000503788,;MARCH6,splice_acceptor_variant,,ENST00000511802,;MARCH6,splice_acceptor_variant,,ENST00000514961,;	.	195	176	SUCCESS
C5orf60	285679	.	GRCh37	5	179069453	179069453	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755608545	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	53	0	ENST00000448248.2:c.721C>T	p.Arg241Cys	p.R241C	ENST00000448248	NM_001142306.1	241	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS47353.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCGGGACC	NONE	.	.	.	.	.	ENSP00000404583	.	5/6	.	.	.	.	.	.	.	.	rs755608545	5/6	nonpreferredpair	ENST00000448248	Transcript	.	.	ENSG00000204661	27753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious_low_confidence(0.01)	.	CE060_HUMAN	C5orf60	HGNC	.	.	UPI00004191D3	SNV	C5orf60,missense_variant,p.Arg241Cys,ENST00000448248,;C5orf60,downstream_gene_variant,,ENST00000506142,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,intron_variant,,ENST00000512899,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,;C5orf60,downstream_gene_variant,,ENST00000513845,;	747	53	45	SUCCESS
IRX2	153572	.	GRCh37	5	2751518	2751518	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1037197794	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	26	0	ENST00000302057.5:c.10C>A	p.Pro4Thr	p.P4T	ENST00000302057	NM_033267.4	4	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3868.1	10	SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGGTAGG	NONE	.	.	hmmpanther:PTHR11211:SF15,hmmpanther:PTHR11211	.	.	ENSP00000372056	.	1/5	.	.	.	.	.	.	.	.	.	1/5	nonpreferredpair	ENST00000382611	Transcript	.	.	ENSG00000170561	14359	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	IRX2_HUMAN	IRX2	HGNC	.	.	UPI00001B6456	SNV	IRX2,missense_variant,p.Pro4Thr,ENST00000382611,;IRX2,missense_variant,p.Pro4Thr,ENST00000302057,;C5orf38,upstream_gene_variant,,ENST00000334000,;C5orf38,upstream_gene_variant,,ENST00000457752,;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000515640,;IRX2,intron_variant,,ENST00000502957,;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	259	26	20	SUCCESS
NIPBL	25836	.	GRCh37	5	36976361	36976361	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1554015273	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	59	1	ENST00000282516.8:c.1352C>T	p.Ser451Phe	p.S451F	ENST00000282516	NM_133433.3	451	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3920.1	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	.	.	ENSP00000282516	.	9/47	.	.	.	.	.	.	.	.	.	9/47	nonpreferredpair	ENST00000282516	Transcript	1	.	ENSG00000164190	28862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.07)	.	NIPBL_HUMAN	NIPBL	HGNC	A2RRA7_HUMAN	.	UPI00003761B5	SNV	NIPBL,missense_variant,p.Ser451Phe,ENST00000448238,;NIPBL,missense_variant,p.Ser451Phe,ENST00000282516,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000505998,;	1851	60	47	SUCCESS
ARMC2	84071	.	GRCh37	6	109225474	109225474	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	48	144	0	ENST00000392644.4:c.889C>T	p.His297Tyr	p.H297Y	ENST00000392644	NM_032131.4	297	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS5069.2	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCATCAT	NONE	.	.	hmmpanther:PTHR21356,Gene3D:1.25.10.10	.	.	ENSP00000376417	.	8/18	.	.	.	.	.	.	.	.	.	8/18	nonpreferredpair	ENST00000392644	Transcript	.	.	ENSG00000118690	23045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.33)	.	ARMC2_HUMAN	ARMC2	HGNC	G5E993_HUMAN,B0QZC1_HUMAN	.	UPI000022CC80	SNV	ARMC2,missense_variant,p.His132Tyr,ENST00000368972,;ARMC2,missense_variant,p.His297Tyr,ENST00000392644,;RP11-249L21.4,downstream_gene_variant,,ENST00000447543,;	1057	144	161	SUCCESS
ARMC2	84071	.	GRCh37	6	109233661	109233661	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	54	157	0	ENST00000392644.4:c.1250A>G	p.Lys417Arg	p.K417R	ENST00000392644	NM_032131.4	417	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5069.2	1250	RADIA|MUTECT|MUSE	.	CAGCAAAGGTG	NONE	.	.	hmmpanther:PTHR21356,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000376417	.	10/18	.	.	.	.	.	.	.	.	.	10/18	nonpreferredpair	ENST00000392644	Transcript	.	.	ENSG00000118690	23045	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.06)	.	ARMC2_HUMAN	ARMC2	HGNC	G5E993_HUMAN,B0QZC1_HUMAN	.	UPI000022CC80	SNV	ARMC2,missense_variant,p.Lys252Arg,ENST00000368972,;ARMC2,missense_variant,p.Lys417Arg,ENST00000392644,;RP11-249L21.4,upstream_gene_variant,,ENST00000447543,;	1418	157	141	SUCCESS
ARMC2	84071	.	GRCh37	6	109233665	109233665	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	56	161	0	ENST00000392644.4:c.1254T>A	p.Gly418=	p.G418=	ENST00000392644	NM_032131.4	418	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5069.2	1254	RADIA|MUTECT|MUSE	.	AAAGGTGCTGT	NONE	.	.	hmmpanther:PTHR21356,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000376417	.	10/18	.	.	.	.	.	.	.	.	.	10/18	nonpreferredpair	ENST00000392644	Transcript	.	.	ENSG00000118690	23045	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARMC2_HUMAN	ARMC2	HGNC	G5E993_HUMAN,B0QZC1_HUMAN	.	UPI000022CC80	SNV	ARMC2,synonymous_variant,p.%3D,ENST00000368972,;ARMC2,synonymous_variant,p.%3D,ENST00000392644,;RP11-249L21.4,upstream_gene_variant,,ENST00000447543,;	1422	161	142	SUCCESS
PPP1R10	5514	.	GRCh37	6	30574619	30574619	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	10	159	0	ENST00000376511.2:c.397G>A	p.Ala133Thr	p.A133T	ENST00000376511	NM_002714.3	133	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4681.1	397	MUTECT|MUSE	.	TGAGGCCAATT	NONE	.	.	Superfamily_domains:SSF47676,SMART_domains:SM00509,Pfam_domain:PF08711,Gene3D:1.20.930.10,hmmpanther:PTHR12506,PROSITE_profiles:PS51319	.	.	ENSP00000365694	.	7/20	.	.	.	.	.	.	.	.	.	7/20	nonpreferredpair	ENST00000376511	Transcript	.	.	ENSG00000204569	9284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PP1RA_HUMAN	PPP1R10	HGNC	Q2L6I0_HUMAN	.	UPI000000D73C	SNV	PPP1R10,missense_variant,p.Ala133Thr,ENST00000376511,;PPP1R10,downstream_gene_variant,,ENST00000484449,;PPP1R10,upstream_gene_variant,,ENST00000468181,;PPP1R10,upstream_gene_variant,,ENST00000461593,;PPP1R10,upstream_gene_variant,,ENST00000496955,;PPP1R10,upstream_gene_variant,,ENST00000476704,;	950	159	152	SUCCESS
XPO5	57510	.	GRCh37	6	43498474	43498474	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	109	0	ENST00000265351.7:c.2629T>G	p.Phe877Val	p.F877V	ENST00000265351	NM_020750.2	877	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS47430.1	2629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAAGGCTG	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Superfamily_domains:SSF48371	.	.	ENSP00000265351	.	23/32	.	.	.	.	.	.	.	.	.	23/32	nonpreferredpair	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	deleterious(0.02)	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,missense_variant,p.Phe877Val,ENST00000265351,;XPO5,upstream_gene_variant,,ENST00000455285,;POLR1C,downstream_gene_variant,,ENST00000304004,;XPO5,3_prime_UTR_variant,,ENST00000398835,;XPO5,upstream_gene_variant,,ENST00000450462,;XPO5,upstream_gene_variant,,ENST00000486936,;XPO5,upstream_gene_variant,,ENST00000488195,;XPO5,upstream_gene_variant,,ENST00000455854,;XPO5,downstream_gene_variant,,ENST00000515657,;	2840	109	111	SUCCESS
TINAG	27283	.	GRCh37	6	54191636	54191636	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	47	114	1	ENST00000259782.4:c.546G>A	p.Met182Ile	p.M182I	ENST00000259782	NM_014464.3	182	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS4955.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATGACTTT	NONE	.	.	Superfamily_domains:SSF54001,hmmpanther:PTHR12411:SF274,hmmpanther:PTHR12411	.	.	ENSP00000259782	.	4/11	.	.	.	.	.	.	.	.	COSM1080379	4/11	nonpreferredpair	ENST00000259782	Transcript	.	.	ENSG00000137251	14599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.309)	.	deleterious(0.03)	1	TINAG_HUMAN	TINAG	HGNC	B1AQ11_HUMAN	.	UPI000013D078	SNV	TINAG,missense_variant,p.Met178Ile,ENST00000370869,;TINAG,missense_variant,p.Met164Ile,ENST00000370864,;TINAG,missense_variant,p.Met182Ile,ENST00000259782,;TINAG,non_coding_transcript_exon_variant,,ENST00000486436,;	642	115	149	SUCCESS
ZNF451	26036	.	GRCh37	6	57018812	57018812	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	51	0	ENST00000370706.4:c.3037G>A	p.Ala1013Thr	p.A1013T	ENST00000370706	NM_001031623.2	1013	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS43477.1	3037	MUTECT|MUSE	.	TGTGTGCCTTG	NONE	.	.	.	.	.	ENSP00000359740	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0.02)	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,missense_variant,p.Ala965Thr,ENST00000357489,;ZNF451,missense_variant,p.Ala1013Thr,ENST00000370706,;ZNF451,missense_variant,p.Ala1013Thr,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000589263,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586466,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,intron_variant,,ENST00000589549,;ZNF451,non_coding_transcript_exon_variant,,ENST00000508548,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,downstream_gene_variant,,ENST00000444273,;	3281	51	59	SUCCESS
PRSS35	167681	.	GRCh37	6	84233979	84233979	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	57	0	ENST00000369700.3:c.819G>A	p.Leu273=	p.L273=	ENST00000369700	NM_153362.2	273	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4999.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGGACTA	NONE	.	.	Superfamily_domains:SSF50494,Gene3D:2.40.10.10,hmmpanther:PTHR15462:SF7,hmmpanther:PTHR15462	.	.	ENSP00000440870	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000536636	Transcript	.	.	ENSG00000146250	21387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS35_HUMAN	PRSS35	HGNC	.	.	UPI000006D2C7	SNV	PRSS35,synonymous_variant,p.%3D,ENST00000369700,;PRSS35,synonymous_variant,p.%3D,ENST00000536636,;	1164	57	54	SUCCESS
MUC17	140453	.	GRCh37	7	100683043	100683043	+	synonymous_variant	Silent	SNP	C	C	T	rs371681290	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	58	1	ENST00000306151.4:c.8346C>T	p.Val2782=	p.V2782=	ENST00000306151	NM_001040105.1	2782	gtC/gtT	0	T:0	.	.	.	.	T	V	protein_coding	YES	CCDS34711.1	8346	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCACCAC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg	.	T:0.0001	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	rs371681290,COSM743548	3/13	nonpreferredpair	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,synonymous_variant,p.%3D,ENST00000306151,;MUC17,synonymous_variant,p.%3D,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	8410	59	68	SUCCESS
RAPGEF5	9771	.	GRCh37	7	22347988	22347988	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	73	0	ENST00000344041.6:c.191T>A	p.Leu64His	p.L64H	ENST00000344041	NM_012294.3	64	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS55093.1	191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGAGAGGC	NONE	.	.	hmmpanther:PTHR23113:SF26,hmmpanther:PTHR23113,Gene3D:1.10.10.10,Superfamily_domains:SSF46785	.	.	ENSP00000343656	.	5/26	.	.	.	.	.	.	.	.	.	5/26	nonpreferredpair	ENST00000344041	Transcript	.	.	ENSG00000136237	16862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.39)	.	.	RAPGEF5	HGNC	C9JBS6_HUMAN,A8MQ07_HUMAN	.	UPI0000EA87E4	SNV	RAPGEF5,missense_variant,p.Leu64His,ENST00000344041,;RAPGEF5,missense_variant,p.Leu217His,ENST00000405243,;RAPGEF5,downstream_gene_variant,,ENST00000471484,;	504	73	60	SUCCESS
AC011738.4	0	.	GRCh37	7	43548503	43548503	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	31	0	ENST00000436105.1:n.2740C>T		p.*914*	ENST00000436105				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5469.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGTGCAA	NONE	.	.	.	.	.	ENSP00000379228	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODIFIER	23/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,intron_variant,,ENST00000453890,;HECW1,intron_variant,,ENST00000429529,;HECW1,intron_variant,,ENST00000395891,;AC011738.4,non_coding_transcript_exon_variant,,ENST00000436105,;	.	31	34	SUCCESS
SAMD9L	219285	.	GRCh37	7	92760997	92760997	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	29	93	0	ENST00000318238.4:c.4288G>A	p.Ala1430Thr	p.A1430T	ENST00000318238	NM_152703.2	1430	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34681.1	4288	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCCAAGA	NONE	.	.	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	.	.	ENSP00000326247	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000318238	Transcript	.	.	ENSG00000177409	1349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0)	.	SAM9L_HUMAN	SAMD9L	HGNC	B4E3M1_HUMAN	.	UPI000020F567	SNV	SAMD9L,missense_variant,p.Ala1430Thr,ENST00000318238,;SAMD9L,missense_variant,p.Ala1430Thr,ENST00000437805,;SAMD9L,missense_variant,p.Ala1430Thr,ENST00000411955,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;	5505	93	113	SUCCESS
ARHGEF10	9639	.	GRCh37	8	1871942	1871942	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	9	105	0	ENST00000398564.1:c.2465C>T	p.Ser822Phe	p.S822F	ENST00000398564		822	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS34794.1	2390	MUTECT|MUSE|VARSCANS	.	CAGATCTGGGC	NONE	.	.	hmmpanther:PTHR12877:SF14,hmmpanther:PTHR12877,Superfamily_domains:SSF50729	.	.	ENSP00000340297	.	21/29	.	.	.	.	.	.	.	.	.	21/29	nonpreferredpair	ENST00000349830	Transcript	1	.	ENSG00000104728	14103	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.787)	.	deleterious(0)	.	ARHGA_HUMAN	ARHGEF10	HGNC	.	.	UPI00005054FE	SNV	ARHGEF10,missense_variant,p.Ser470Phe,ENST00000522435,;ARHGEF10,missense_variant,p.Ser822Phe,ENST00000262112,;ARHGEF10,missense_variant,p.Ser822Phe,ENST00000398564,;ARHGEF10,missense_variant,p.Ser797Phe,ENST00000349830,;ARHGEF10,missense_variant,p.Ser759Phe,ENST00000520359,;ARHGEF10,missense_variant,p.Ser821Phe,ENST00000518288,;ARHGEF10,downstream_gene_variant,,ENST00000524212,;ARHGEF10,splice_region_variant,,ENST00000523711,;ARHGEF10,splice_region_variant,,ENST00000519641,;	2575	105	102	SUCCESS
CHMP7	91782	.	GRCh37	8	23104433	23104433	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	37	0	ENST00000313219.7:c.225G>A	p.Arg75=	p.R75=	ENST00000313219		75	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS6040.1	225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGGACTT	NONE	.	.	hmmpanther:PTHR22761:SF6,hmmpanther:PTHR22761	.	.	ENSP00000380794	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000397677	Transcript	.	.	ENSG00000147457	28439	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHMP7_HUMAN	CHMP7	HGNC	E5RJI3_HUMAN,B3KRZ9_HUMAN,B3KMN6_HUMAN	.	UPI0000049FB7	SNV	CHMP7,synonymous_variant,p.%3D,ENST00000397677,;CHMP7,synonymous_variant,p.%3D,ENST00000519984,;CHMP7,synonymous_variant,p.%3D,ENST00000313219,;CHMP7,synonymous_variant,p.%3D,ENST00000519414,;CHMP7,synonymous_variant,p.%3D,ENST00000519503,;CHMP7,non_coding_transcript_exon_variant,,ENST00000519529,;CHMP7,intron_variant,,ENST00000517325,;	873	37	26	SUCCESS
ADAM2	2515	.	GRCh37	8	39695755	39695755	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs770277829	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	65	0	ENST00000265708.4:c.-51C>T		p.*17*	ENST00000265708	NM_001464.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34884.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGGGCAGT	NONE	byFrequency	.	.	.	.	ENSP00000265708	.	1/21	.	.	.	.	.	.	.	.	rs770277829	1/21	nonpreferredpair	ENST00000265708	Transcript	.	.	ENSG00000104755	198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAM2_HUMAN	ADAM2	HGNC	.	.	UPI00001254C2	SNV	ADAM2,5_prime_UTR_variant,,ENST00000265708,;ADAM2,upstream_gene_variant,,ENST00000521880,;ADAM2,upstream_gene_variant,,ENST00000347580,;ADAM2,upstream_gene_variant,,ENST00000379853,;ADAM2,upstream_gene_variant,,ENST00000523181,;	54	65	56	SUCCESS
PRKDC	5591	.	GRCh37	8	48732069	48732069	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	87	2	ENST00000314191.2:c.9336T>C		p.X3112_splice	ENST00000314191	NM_006904.6	3112	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	.	9336	SOMATICSNIPER|VARSCANS	.	GAATAATTCTT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF02259	.	.	ENSP00000313420	.	68/87	.	.	.	.	.	.	.	.	.	68/87	nonpreferredpair	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,synonymous_variant,p.%3D,ENST00000338368,;PRKDC,synonymous_variant,p.%3D,ENST00000314191,;PRKDC,splice_region_variant,,ENST00000518216,;PRKDC,splice_region_variant,,ENST00000523565,;	9393	89	88	SUCCESS
ASPH	444	.	GRCh37	8	62479742	62479742	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	35	0	ENST00000379454.4:c.1285A>G	p.Arg429Gly	p.R429G	ENST00000379454	NM_004318.3	429	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS34898.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTGTCTG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF20,PROSITE_profiles:PS50293	.	.	ENSP00000368767	.	17/25	.	.	.	.	.	.	.	.	.	17/25	nonpreferredpair	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,missense_variant,p.Arg400Gly,ENST00000541428,;ASPH,missense_variant,p.Arg429Gly,ENST00000379454,;ASPH,downstream_gene_variant,,ENST00000524173,;	1473	35	41	SUCCESS
GEM	2669	.	GRCh37	8	95262701	95262701	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200768882	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	38	0	ENST00000297596.2:c.728G>C	p.Arg243Pro	p.R243P	ENST00000297596	NM_005261.3	243	cGg/cCg	0	.	T:0	.	T:0	.	G	R/P	protein_coding	YES	CCDS6261.1	728	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCGCCGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF192,hmmpanther:PTHR24070,Gene3D:3.40.50.300,PIRSF_domain:PIRSF038017,Superfamily_domains:SSF52540	T:0.001	.	ENSP00000297596	T:0	5/5	.	.	.	.	.	.	.	.	rs200768882	5/5	nonpreferredpair	ENST00000297596	Transcript	.	T:0.0002	ENSG00000164949	4234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	T:0	deleterious(0)	.	GEM_HUMAN	GEM	HGNC	E5RJF9_HUMAN	.	UPI000012B3BC	SNV	GEM,missense_variant,p.Arg243Pro,ENST00000297596,;GEM,missense_variant,p.Arg243Pro,ENST00000396194,;	993	38	62	SUCCESS
DMRT2	10655	.	GRCh37	9	1055928	1055928	+	intron_variant	Intron	SNP	A	A	T	rs755166695	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	48	0	ENST00000358146.2:c.629-288A>T		p.*210*	ENST00000358146				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6444.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAATAAAG	NONE	.	.	.	.	.	ENSP00000371686	.	.	.	.	.	.	.	.	.	.	rs755166695	.	nonpreferredpair	ENST00000382251	Transcript	.	.	ENSG00000173253	2935	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMRT2_HUMAN	DMRT2	HGNC	.	.	UPI000013D066	SNV	DMRT2,3_prime_UTR_variant,,ENST00000259622,;DMRT2,intron_variant,,ENST00000302441,;DMRT2,intron_variant,,ENST00000382251,;DMRT2,intron_variant,,ENST00000358146,;DMRT2,intron_variant,,ENST00000382255,;DMRT2,downstream_gene_variant,,ENST00000412350,;	.	48	55	SUCCESS
CNTLN	54875	.	GRCh37	9	17340897	17340897	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	100	256	1	ENST00000380647.3:c.1717T>C	p.Tyr573His	p.Y573H	ENST00000380647		573	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS43789.1	1717	RADIA|SOMATICSNIPER|VARSCANS	.	CCAACTACAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	11/26	.	.	.	.	.	.	.	.	.	11/26	nonpreferredpair	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Tyr573His,ENST00000425824,;CNTLN,missense_variant,p.Tyr573His,ENST00000262360,;CNTLN,missense_variant,p.Tyr573His,ENST00000380647,;	1801	257	250	SUCCESS
OMD	4958	.	GRCh37	9	95179747	95179747	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	39	152	0	ENST00000375550.4:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000375550	NM_005014.2	32	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS6696.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTCATAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF8	.	.	ENSP00000364700	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000375550	Transcript	.	.	ENSG00000127083	8134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	deleterious(0)	.	OMD_HUMAN	OMD	HGNC	.	.	UPI000000DB73	SNV	OMD,missense_variant,p.Asp32Tyr,ENST00000375550,;CENPP,intron_variant,,ENST00000375587,;	370	152	175	SUCCESS
ASPN	54829	.	GRCh37	9	95219654	95219654	+	synonymous_variant	Silent	SNP	C	C	T	rs148676537	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	38	149	0	ENST00000375544.3:c.1059G>A	p.Pro353=	p.P353=	ENST00000375544	NM_017680.4	353	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	.	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACCGGGTT	NONE	byCluster	.	hmmpanther:PTHR24369:SF10,hmmpanther:PTHR24369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	.	T:0.0001	ENSP00000364694	.	8/8	.	.	.	.	.	.	.	.	rs148676537	8/8	nonpreferredpair	ENST00000375544	Transcript	.	.	ENSG00000106819	14872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPN_HUMAN	ASPN	HGNC	Q6P528_HUMAN	.	UPI000013C839	SNV	ASPN,synonymous_variant,p.%3D,ENST00000375544,;ASPN,3_prime_UTR_variant,,ENST00000375543,;CENPP,intron_variant,,ENST00000375587,;	1303	149	129	SUCCESS
LRCH2	57631	.	GRCh37	X	114422835	114422835	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	562	17	583	1	ENST00000317135.8:c.448C>T	p.Pro150Ser	p.P150S	ENST00000317135	NM_020871.3	150	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS48155.1	448	MUTECT|MUSE	.	TTCAGGAATGG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF409,hmmpanther:PTHR23155,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000325091	.	2/21	.	.	.	.	.	.	.	.	.	2/21	nonpreferredpair	ENST00000317135	Transcript	.	.	ENSG00000130224	29292	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRCH2_HUMAN	LRCH2	HGNC	.	.	UPI000022DB30	SNV	LRCH2,missense_variant,p.Pro150Ser,ENST00000538422,;LRCH2,missense_variant,p.Pro150Ser,ENST00000317135,;RBMXL3,upstream_gene_variant,,ENST00000424776,;	479	584	579	SUCCESS
HCFC1	3054	.	GRCh37	X	153223624	153223624	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	71	1	ENST00000310441.7:c.1880C>T	p.Thr627Met	p.T627M	ENST00000310441	NM_005334.2	627	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS44020.1	1880	SOMATICSNIPER|VARSCANS	.	TAGACGTGTTG	NONE	.	.	hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF266	.	.	ENSP00000309555	.	11/26	.	.	.	.	.	.	.	.	.	11/26	nonpreferredpair	ENST00000310441	Transcript	.	.	ENSG00000172534	4839	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.975)	.	deleterious(0)	.	HCFC1_HUMAN	HCFC1	HGNC	Q05C05_HUMAN	.	UPI0000142F1F	SNV	HCFC1,missense_variant,p.Thr627Met,ENST00000369984,;HCFC1,missense_variant,p.Thr627Met,ENST00000310441,;HCFC1,missense_variant,p.Thr558Met,ENST00000354233,;HCFC1,upstream_gene_variant,,ENST00000444191,;HCFC1,downstream_gene_variant,,ENST00000461098,;	2847	72	68	SUCCESS
CDKL5	6792	.	GRCh37	X	18622809	18622809	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	103	0	ENST00000379989.3:c.1765C>T	p.His589Tyr	p.H589Y	ENST00000379989	NM_001037343.1	589	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS14186.1	1765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCACGAA	NONE	.	.	hmmpanther:PTHR24056:SF111,hmmpanther:PTHR24056	.	.	ENSP00000369325	.	13/22	.	.	.	.	.	.	.	.	.	13/22	nonpreferredpair	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	deleterious_low_confidence(0)	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	SNV	CDKL5,missense_variant,p.His589Tyr,ENST00000379989,;CDKL5,missense_variant,p.His589Tyr,ENST00000379996,;CDKL5,non_coding_transcript_exon_variant,,ENST00000463994,;	2050	103	96	SUCCESS
SHROOM4	57477	.	GRCh37	X	50378093	50378093	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	78	0	ENST00000289292.7:c.980G>A	p.Cys327Tyr	p.C327Y	ENST00000289292		327	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS35277.1	980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCAACAG	NONE	.	.	hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012	.	.	ENSP00000365188	.	4/9	.	.	.	.	.	.	.	.	.	4/9	nonpreferredpair	ENST00000376020	Transcript	.	.	ENSG00000158352	29215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	SHRM4_HUMAN	SHROOM4	HGNC	.	.	UPI00001C2068	SNV	SHROOM4,missense_variant,p.Cys327Tyr,ENST00000376020,;SHROOM4,missense_variant,p.Cys327Tyr,ENST00000289292,;SHROOM4,missense_variant,p.Cys211Tyr,ENST00000460112,;	1006	78	96	SUCCESS
ITIH6	347365	.	GRCh37	X	54784025	54784025	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	12	135	0	ENST00000218436.6:c.2482G>T	p.Val828Phe	p.V828F	ENST00000218436	NM_198510.2	828	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS14361.1	2482	MUTECT|MUSE|VARSCANS	.	AGGAACCCTAG	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	.	ENSP00000218436	.	8/13	.	.	.	.	.	.	.	.	.	8/13	nonpreferredpair	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.083)	.	tolerated(0.11)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Val828Phe,ENST00000218436,;	2512	135	146	SUCCESS
DLG3	1741	.	GRCh37	X	69719125	69719125	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	43	0	ENST00000374360.3:c.1970C>T	p.Pro657Leu	p.P657L	ENST00000374360	NM_021120.3	657	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS14403.1	1970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCACGTA	NONE	.	.	PROSITE_profiles:PS50052,hmmpanther:PTHR23119:SF7,hmmpanther:PTHR23119,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF52540	.	.	ENSP00000363480	.	15/19	.	.	.	.	.	.	.	.	.	15/19	nonpreferredpair	ENST00000374360	Transcript	.	.	ENSG00000082458	2902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	deleterious(0)	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,missense_variant,p.Pro206Leu,ENST00000542398,;DLG3,missense_variant,p.Pro352Leu,ENST00000374355,;DLG3,missense_variant,p.Pro689Leu,ENST00000194900,;DLG3,missense_variant,p.Pro657Leu,ENST00000374360,;DLG3,splice_region_variant,,ENST00000466140,;DLG3,splice_region_variant,,ENST00000461646,;DLG3,downstream_gene_variant,,ENST00000489733,;DLG3,splice_region_variant,,ENST00000463252,;DLG3,upstream_gene_variant,,ENST00000496931,;	2203	43	66	SUCCESS
MAGEE1	57692	.	GRCh37	X	75648383	75648383	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	105	0	ENST00000361470.2:c.60G>A	p.Ala20=	p.A20=	ENST00000361470	NM_020932.2	20	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14433.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCGCACAA	NONE	.	.	.	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,synonymous_variant,p.%3D,ENST00000361470,;	338	105	121	SUCCESS
MAGEE1	57692	.	GRCh37	X	75649243	75649243	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	68	0	ENST00000361470.2:c.920C>T	p.Ser307Phe	p.S307F	ENST00000361470	NM_020932.2	307	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS14433.1	920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCCGTGC	NONE	.	.	hmmpanther:PTHR11736:SF9,hmmpanther:PTHR11736	.	.	ENSP00000354912	.	1/1	.	.	.	.	.	.	.	.	COSM757531,COSM757532	1/1	nonpreferredpair	ENST00000361470	Transcript	.	.	ENSG00000198934	24934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.005)	.	deleterious_low_confidence(0.01)	1,1	MAGE1_HUMAN	MAGEE1	HGNC	Q5JXC7_HUMAN	.	UPI000006F138	SNV	MAGEE1,missense_variant,p.Ser307Phe,ENST00000361470,;	1198	68	75	SUCCESS
ENO4	387712	.	GRCh37	10	118609206	118609206	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	64	186	0	ENST00000409522.1:c.129C>T	p.Thr43=	p.T43=	ENST00000409522		43	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	.	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCTTCTA	NONE	.	.	.	.	.	ENSP00000387194	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000409522	Transcript	.	.	ENSG00000188316	31670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENO4_HUMAN	ENO4	HGNC	.	.	UPI0000228AB3	SNV	ENO4,synonymous_variant,p.%3D,ENST00000409522,;ENO4,synonymous_variant,p.%3D,ENST00000512864,;ENO4,synonymous_variant,p.%3D,ENST00000341276,;RP11-539I5.1,non_coding_transcript_exon_variant,,ENST00000453491,;RP11-539I5.1,intron_variant,,ENST00000434227,;	184	186	182	SUCCESS
EBF3	253738	.	GRCh37	10	131761727	131761727	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	67	0	ENST00000355311.5:c.195C>A	p.Ser65=	p.S65=	ENST00000355311		65	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS31314.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGGATTT	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000357637	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000368648	Transcript	.	.	ENSG00000108001	19087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COE3_HUMAN	EBF3	HGNC	Q658Y5_HUMAN	.	UPI000002A6FB	SNV	EBF3,synonymous_variant,p.%3D,ENST00000355311,;EBF3,synonymous_variant,p.%3D,ENST00000368648,;	268	67	69	SUCCESS
CUBN	8029	.	GRCh37	10	16979768	16979768	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	65	0	ENST00000377833.4:c.5749A>G	p.Ser1917Gly	p.S1917G	ENST00000377833	NM_001081.3	1917	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS7113.1	5749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTAGGCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF561,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000367064	.	39/67	.	.	.	.	.	.	.	.	.	39/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.86)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Ser1917Gly,ENST00000377833,;	5815	65	60	SUCCESS
MYO3A	53904	.	GRCh37	10	26432443	26432443	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	12	118	0	ENST00000265944.5:c.2329G>C	p.Asp777His	p.D777H	ENST00000265944	NM_017433.4	777	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS7148.1	2329	MUTECT|MUSE|VARSCANS	.	TCTTAGATATG	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	21/35	.	.	.	.	.	.	.	.	COSM1135008	21/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.968)	.	deleterious(0)	1	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Asp777His,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	2495	118	122	SUCCESS
TSPAN15	23555	.	GRCh37	10	71244958	71244958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	8	130	0	ENST00000373290.2:c.344C>A	p.Thr115Asn	p.T115N	ENST00000373290	NM_012339.3	115	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS7294.1	344	MUTECT|MUSE	.	CTTGACCTTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF159,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419	.	.	ENSP00000362387	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000373290	Transcript	.	.	ENSG00000099282	23298	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	deleterious(0)	.	TSN15_HUMAN	TSPAN15	HGNC	.	.	UPI00001370A4	SNV	TSPAN15,missense_variant,p.Thr24Asn,ENST00000452130,;TSPAN15,missense_variant,p.Thr115Asn,ENST00000373290,;TSPAN15,non_coding_transcript_exon_variant,,ENST00000475069,;TSPAN15,downstream_gene_variant,,ENST00000478112,;	466	130	176	SUCCESS
ADIRF-AS1	100133190	.	GRCh37	10	88728413	88728413	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs573367194	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	43	139	0	ENST00000609111.1:n.2572G>C		p.*858*	ENST00000609111				0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS7381.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCGCAGG	NONE	by1000G	.	.	T:0.001	.	ENSP00000361083	T:0	.	.	.	.	.	.	.	.	.	rs573367194	.	PASS	ENST00000372013	Transcript	.	T:0.0002	ENSG00000148671	24043	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ADIRF_HUMAN	ADIRF	HGNC	Q5TBU5_HUMAN	.	UPI0000000C61	SNV	MMRN2,intron_variant,,ENST00000474994,;ADIRF,intron_variant,,ENST00000372013,;MMRN2,intron_variant,,ENST00000609457,;ADIRF,intron_variant,,ENST00000416348,;ADIRF-AS1,non_coding_transcript_exon_variant,,ENST00000609111,;ADIRF-AS1,intron_variant,,ENST00000440490,;ADIRF-AS1,intron_variant,,ENST00000418273,;RP11-96C23.15,downstream_gene_variant,,ENST00000609363,;RP11-96C23.5,upstream_gene_variant,,ENST00000433214,;ADIRF,intron_variant,,ENST00000561504,;ADIRF-AS1,upstream_gene_variant,,ENST00000609170,;	.	139	153	SUCCESS
BCO2	83875	.	GRCh37	11	112064319	112064319	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764094222	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	45	146	0	ENST00000357685.5:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000357685		139	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS8358.2	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCGAATTG	SITE|p.R139Q|c.416G>A|3	byFrequency	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF23,Pfam_domain:PF03055	.	.	ENSP00000350314	.	3/12	.	.	.	.	.	.	.	.	rs764094222,COSM1184614,COSM1351286	3/12	PASS	ENST00000357685	Transcript	.	.	ENSG00000197580	18503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.899)	.	deleterious(0.03)	0,1,1	BCDO2_HUMAN	BCO2	HGNC	E9PS89_HUMAN,B0YIX6_HUMAN	.	UPI00005FB124	SNV	BCO2,missense_variant,p.Arg105Gln,ENST00000531169,;AP002884.3,missense_variant,p.Arg110Gln,ENST00000532612,;BCO2,missense_variant,p.Arg139Gln,ENST00000361053,;BCO2,missense_variant,p.Arg105Gln,ENST00000526088,;BCO2,missense_variant,p.Arg105Gln,ENST00000438022,;BCO2,missense_variant,p.Arg139Gln,ENST00000357685,;BCO2,missense_variant,p.Arg34Gln,ENST00000532593,;BCO2,missense_variant,p.Arg42Gln,ENST00000530677,;BCO2,missense_variant,p.Arg105Gln,ENST00000393032,;SDHD,non_coding_transcript_exon_variant,,ENST00000525468,;BCO2,3_prime_UTR_variant,,ENST00000534550,;BCO2,3_prime_UTR_variant,,ENST00000527939,;SDHD,non_coding_transcript_exon_variant,,ENST00000525987,;BCO2,non_coding_transcript_exon_variant,,ENST00000494860,;BCO2,non_coding_transcript_exon_variant,,ENST00000534122,;BCO2,non_coding_transcript_exon_variant,,ENST00000460924,;BCO2,downstream_gene_variant,,ENST00000531003,;SDHD,downstream_gene_variant,,ENST00000532699,;	551	146	141	SUCCESS
NXPE4	54827	.	GRCh37	11	114453434	114453434	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs758415512	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	26	126	0	ENST00000375478.3:c.406G>C	p.Asp136His	p.D136H	ENST00000375478	NM_001077639.1	136	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS41718.1	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCCCCGC	NONE	.	.	hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3,Pfam_domain:PF06312,Gene3D:2.60.40.10,Superfamily_domains:SSF81296	.	.	ENSP00000364627	.	3/6	.	.	.	.	.	.	.	.	rs758415512	3/6	PASS	ENST00000375478	Transcript	.	.	ENSG00000137634	23117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.712)	.	deleterious(0.01)	.	NXPE4_HUMAN	NXPE4	HGNC	.	.	UPI00000477F3	SNV	NXPE4,missense_variant,p.Asp136His,ENST00000375478,;NXPE4,intron_variant,,ENST00000424261,;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	587	126	121	SUCCESS
DKK3	27122	.	GRCh37	11	11990020	11990020	+	synonymous_variant	Silent	SNP	G	G	A	rs918670099	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	64	0	ENST00000326932.4:c.450C>T	p.Asp150=	p.D150=	ENST00000326932	NM_013253.4	150	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS7808.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGTCGAT	NONE	.	.	hmmpanther:PTHR12113,Pfam_domain:PF04706	.	.	ENSP00000379762	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000396505	Transcript	.	.	ENSG00000050165	2893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DKK3_HUMAN	DKK3	HGNC	E9PKW6_HUMAN	.	UPI00001694CA	SNV	DKK3,synonymous_variant,p.%3D,ENST00000396505,;DKK3,synonymous_variant,p.%3D,ENST00000450094,;DKK3,synonymous_variant,p.%3D,ENST00000534511,;DKK3,synonymous_variant,p.%3D,ENST00000529338,;DKK3,synonymous_variant,p.%3D,ENST00000525493,;DKK3,synonymous_variant,p.%3D,ENST00000533813,;DKK3,synonymous_variant,p.%3D,ENST00000326932,;DKK3,non_coding_transcript_exon_variant,,ENST00000528188,;DKK3,non_coding_transcript_exon_variant,,ENST00000532873,;DKK3,non_coding_transcript_exon_variant,,ENST00000525927,;DKK3,intron_variant,,ENST00000527132,;DKK3,non_coding_transcript_exon_variant,,ENST00000532372,;	689	64	62	SUCCESS
OR8A1	390275	.	GRCh37	11	124440405	124440405	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	52	0	ENST00000284287.3:c.441G>A	p.Leu147=	p.L147=	ENST00000284287	NM_001005194.1	147	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31712.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGCTTTA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF49,PROSITE_profiles:PS50262	.	.	ENSP00000284287	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000284287	Transcript	.	.	ENSG00000196119	8469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8A1_HUMAN	OR8A1	HGNC	.	.	UPI00003B286D	SNV	OR8A1,synonymous_variant,p.%3D,ENST00000284287,;	513	52	62	SUCCESS
TOLLIP	54472	.	GRCh37	11	1309926	1309926	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	82	0	ENST00000317204.6:c.447C>T	p.Asp149=	p.D149=	ENST00000317204	NM_019009.3	149	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS7723.1	447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGTCCTC	NONE	.	.	hmmpanther:PTHR16461,hmmpanther:PTHR16461:SF5,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000314733	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000317204	Transcript	.	.	ENSG00000078902	16476	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOLIP_HUMAN	TOLLIP	HGNC	Q6FIE9_HUMAN,B3KXC6_HUMAN	.	UPI0000035D9F	SNV	TOLLIP,synonymous_variant,p.%3D,ENST00000530541,;TOLLIP,synonymous_variant,p.%3D,ENST00000525159,;TOLLIP,synonymous_variant,p.%3D,ENST00000542915,;TOLLIP,synonymous_variant,p.%3D,ENST00000263646,;TOLLIP,synonymous_variant,p.%3D,ENST00000317204,;TOLLIP,synonymous_variant,p.%3D,ENST00000527886,;TOLLIP,intron_variant,,ENST00000527938,;TOLLIP,non_coding_transcript_exon_variant,,ENST00000528719,;TOLLIP,downstream_gene_variant,,ENST00000527638,;TOLLIP,synonymous_variant,p.%3D,ENST00000530506,;TOLLIP,downstream_gene_variant,,ENST00000527746,;	571	82	64	SUCCESS
IGSF22	283284	.	GRCh37	11	18733863	18733863	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	51	174	0	ENST00000319338.6:c.2096-1488T>C		p.*699*	ENST00000319338		722		0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS41625.2	2164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCACTTCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF53,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000421191	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000513874	Transcript	.	.	ENSG00000179057	26750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	deleterious(0)	.	IGS22_HUMAN	IGSF22	HGNC	.	.	UPI0001D3B05B	SNV	IGSF22,missense_variant,p.Trp722Arg,ENST00000513874,;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,non_coding_transcript_exon_variant,,ENST00000504981,;IGSF22,intron_variant,,ENST00000319338,;	2304	174	169	SUCCESS
BTBD18	643376	.	GRCh37	11	57513122	57513122	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	43	90	0	ENST00000422652.1:c.623A>C	p.Lys208Thr	p.K208T	ENST00000422652	NM_001145101.1	208	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS44603.1	623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTTGAGC	NONE	.	.	.	.	.	ENSP00000394472	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000422652	Transcript	.	.	ENSG00000233436	37214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious_low_confidence(0)	.	BTBDI_HUMAN	BTBD18	HGNC	E9PRF5_HUMAN	.	UPI00006C113A	SNV	BTBD18,missense_variant,p.Lys208Thr,ENST00000436147,;BTBD18,missense_variant,p.Lys208Thr,ENST00000422652,;C11orf31,downstream_gene_variant,,ENST00000534355,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;C11orf31,downstream_gene_variant,,ENST00000528798,;TMX2,downstream_gene_variant,,ENST00000278422,;C11orf31,downstream_gene_variant,,ENST00000388857,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,intron_variant,,ENST00000531074,;C11orf31,downstream_gene_variant,,ENST00000533321,;C11orf31,downstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000529403,;	912	90	119	SUCCESS
OR52E4	390081	.	GRCh37	11	5905748	5905748	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779512897	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	69	0	ENST00000316987.2:c.226T>C	p.Ser76Pro	p.S76P	ENST00000316987	NM_001005165.1	76	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31401.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGTCCACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF13,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000321426	.	1/1	.	.	.	.	.	.	.	.	rs779512897	1/1	PASS	ENST00000316987	Transcript	.	.	ENSG00000180974	15213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	O52E4_HUMAN	OR52E4	HGNC	.	.	UPI0000041BE2	SNV	OR52E4,missense_variant,p.Ser76Pro,ENST00000316987,;TRIM5,intron_variant,,ENST00000412903,;	248	69	59	SUCCESS
FAT3	120114	.	GRCh37	11	92087690	92087690	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	79	0	ENST00000298047.6:c.2412T>C	p.Tyr804=	p.Y804=	ENST00000298047		804	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	.	2412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTATGACTT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000541502,;FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	2429	79	86	SUCCESS
DHX37	57647	.	GRCh37	12	125470692	125470692	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	20	53	0	ENST00000308736.2:c.226G>T	p.Glu76Ter	p.E76*	ENST00000308736	NM_032656.3	76	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS9261.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCCTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99	.	.	ENSP00000311135	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000308736	Transcript	.	.	ENSG00000150990	17210	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX37_HUMAN	DHX37	HGNC	Q6IPP7_HUMAN	.	UPI00000742DC	SNV	DHX37,stop_gained,p.Glu76Ter,ENST00000308736,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	325	53	69	SUCCESS
ZCRB1	85437	.	GRCh37	12	42717863	42717863	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	116	0	ENST00000266529.3:c.42A>T	p.Val14=	p.V14=	ENST00000266529	NM_033114.3	14	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8740.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGATACATA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139:SF52,hmmpanther:PTHR23139,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000266529	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000266529	Transcript	.	.	ENSG00000139168	29620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCRB1_HUMAN	ZCRB1	HGNC	Q05DR1_HUMAN,G3V1V1_HUMAN,F8VXY6_HUMAN	.	UPI00000467ED	SNV	ZCRB1,synonymous_variant,p.%3D,ENST00000266529,;ZCRB1,splice_region_variant,,ENST00000552673,;PPHLN1,intron_variant,,ENST00000549190,;ZCRB1,intron_variant,,ENST00000552235,;PPHLN1,upstream_gene_variant,,ENST00000358314,;PPHLN1,upstream_gene_variant,,ENST00000337898,;PPHLN1,upstream_gene_variant,,ENST00000552761,;PPHLN1,upstream_gene_variant,,ENST00000256678,;PPHLN1,upstream_gene_variant,,ENST00000432191,;PPHLN1,upstream_gene_variant,,ENST00000449194,;PPHLN1,upstream_gene_variant,,ENST00000395568,;PPHLN1,upstream_gene_variant,,ENST00000395580,;PPHLN1,upstream_gene_variant,,ENST00000317560,;PPHLN1,upstream_gene_variant,,ENST00000550535,;ZCRB1,downstream_gene_variant,,ENST00000551102,;ZCRB1,non_coding_transcript_exon_variant,,ENST00000548022,;PPHLN1,upstream_gene_variant,,ENST00000551723,;PPHLN1,upstream_gene_variant,,ENST00000551406,;PPHLN1,upstream_gene_variant,,ENST00000549774,;PPHLN1,upstream_gene_variant,,ENST00000552202,;PPHLN1,upstream_gene_variant,,ENST00000552429,;	226	116	103	SUCCESS
LMBR1L	55716	.	GRCh37	12	49491852	49491852	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs367631047	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	62	0	ENST00000267102.8:c.1277G>T	p.Arg426Leu	p.R426L	ENST00000267102	NM_018113.2	426	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS8780.2	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCGTCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12625:SF2,hmmpanther:PTHR12625,Pfam_domain:PF04791	.	T:0.0001	ENSP00000267102	.	16/17	.	.	.	.	.	.	.	.	rs367631047	16/17	PASS	ENST00000267102	Transcript	.	.	ENSG00000139636	18268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	LMBRL_HUMAN	LMBR1L	HGNC	F8VVE2_HUMAN	.	UPI0000071212	SNV	LMBR1L,missense_variant,p.Arg421Leu,ENST00000395141,;LMBR1L,missense_variant,p.Arg426Leu,ENST00000267102,;LMBR1L,missense_variant,p.Arg406Leu,ENST00000547382,;LMBR1L,intron_variant,,ENST00000547698,;LMBR1L,downstream_gene_variant,,ENST00000547675,;LMBR1L,downstream_gene_variant,,ENST00000552449,;DHH,upstream_gene_variant,,ENST00000266991,;RP11-386G11.8,downstream_gene_variant,,ENST00000548030,;RP11-386G11.8,downstream_gene_variant,,ENST00000553174,;LMBR1L,downstream_gene_variant,,ENST00000549429,;LMBR1L,missense_variant,p.Arg122Leu,ENST00000553040,;LMBR1L,3_prime_UTR_variant,,ENST00000417750,;LMBR1L,3_prime_UTR_variant,,ENST00000547670,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000551272,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552577,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000551143,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000547813,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000550867,;LMBR1L,downstream_gene_variant,,ENST00000552879,;LMBR1L,downstream_gene_variant,,ENST00000457164,;LMBR1L,downstream_gene_variant,,ENST00000552141,;	1620	62	57	SUCCESS
DAOA-AS1	282706	.	GRCh37	13	106118570	106118570	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	61	0	ENST00000448407.1:n.705C>T		p.*235*	ENST00000448407				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41905.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGGAAAG	NONE	.	22	.	.	.	ENSP00000365103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375936	Transcript	.	.	ENSG00000182346	21191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAOA_HUMAN	DAOA	HGNC	.	.	UPI00001B01AA	SNV	DAOA,upstream_gene_variant,,ENST00000329625,;DAOA,upstream_gene_variant,,ENST00000375936,;DAOA-AS1,non_coding_transcript_exon_variant,,ENST00000448407,;DAOA,5_prime_UTR_variant,,ENST00000600388,;DAOA,5_prime_UTR_variant,,ENST00000559369,;DAOA,5_prime_UTR_variant,,ENST00000473269,;DAOA,5_prime_UTR_variant,,ENST00000488534,;DAOA,upstream_gene_variant,,ENST00000601240,;DAOA,upstream_gene_variant,,ENST00000595812,;DAOA,upstream_gene_variant,,ENST00000471432,;DAOA,upstream_gene_variant,,ENST00000489237,;	.	61	76	SUCCESS
C14orf80	0	.	GRCh37	14	105958483	105958483	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	41	0	ENST00000392522.3:c.266A>T	p.Gln89Leu	p.Q89L	ENST00000392522	NM_001134875.1	89	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS45181.1	266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGGGCT	NONE	.	.	Pfam_domain:PF14970	.	.	ENSP00000376307	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000392522	Transcript	.	.	ENSG00000185347	20127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.09)	.	CN080_HUMAN	C14orf80	HGNC	C9JZ80_HUMAN,C9J1F2_HUMAN	.	UPI00017FB9D4	SNV	C14orf80,splice_acceptor_variant,,ENST00000421892,;C14orf80,missense_variant,p.Gln48Leu,ENST00000443229,;C14orf80,missense_variant,p.Gln89Leu,ENST00000392523,;C14orf80,missense_variant,p.Gln50Leu,ENST00000329886,;C14orf80,missense_variant,p.Gln48Leu,ENST00000334656,;C14orf80,missense_variant,p.Gln48Leu,ENST00000392527,;C14orf80,missense_variant,p.Gln48Leu,ENST00000427614,;C14orf80,missense_variant,p.Gln48Leu,ENST00000432805,;C14orf80,missense_variant,p.Gln89Leu,ENST00000392522,;C14orf80,missense_variant,p.Gln48Leu,ENST00000455454,;C14orf80,missense_variant,p.Gln89Leu,ENST00000354560,;C14orf80,5_prime_UTR_variant,,ENST00000451719,;C14orf80,5_prime_UTR_variant,,ENST00000450383,;CRIP1,downstream_gene_variant,,ENST00000330233,;CRIP1,downstream_gene_variant,,ENST00000392531,;CRIP1,downstream_gene_variant,,ENST00000409393,;C14orf80,non_coding_transcript_exon_variant,,ENST00000551054,;C14orf80,splice_acceptor_variant,,ENST00000463869,;C14orf80,splice_region_variant,,ENST00000548920,;CRIP1,3_prime_UTR_variant,,ENST00000477724,;C14orf80,non_coding_transcript_exon_variant,,ENST00000460959,;C14orf80,non_coding_transcript_exon_variant,,ENST00000546536,;CRIP1,downstream_gene_variant,,ENST00000547184,;C14orf80,upstream_gene_variant,,ENST00000551538,;CRIP1,downstream_gene_variant,,ENST00000461556,;CRIP1,downstream_gene_variant,,ENST00000460900,;CRIP1,downstream_gene_variant,,ENST00000553228,;CRIP1,downstream_gene_variant,,ENST00000547940,;CRIP1,downstream_gene_variant,,ENST00000496700,;CRIP1,downstream_gene_variant,,ENST00000551180,;CRIP1,downstream_gene_variant,,ENST00000550554,;	393	41	54	SUCCESS
NKX2-1	7080	.	GRCh37	14	36986874	36986874	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs774427469	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	20	184	0	ENST00000354822.5:c.815C>G	p.Thr272Ser	p.T272S	ENST00000354822	NM_001079668.2	272	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS41945.1	815	RADIA|VARSCANS	.	ACCCGGTGCCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF33	.	.	ENSP00000346879	.	3/3	.	.	.	.	.	.	.	.	rs774427469	3/3	PASS	ENST00000354822	Transcript	.	.	ENSG00000136352	11825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(1)	.	NKX21_HUMAN	NKX2-1	HGNC	Q13306_HUMAN	.	UPI000007328C	SNV	NKX2-1,missense_variant,p.Thr272Ser,ENST00000354822,;NKX2-1,missense_variant,p.Thr242Ser,ENST00000518149,;NKX2-1,missense_variant,p.Thr242Ser,ENST00000498187,;NKX2-1,missense_variant,p.Thr242Ser,ENST00000522719,;NKX2-1,downstream_gene_variant,,ENST00000546983,;SFTA3,upstream_gene_variant,,ENST00000518529,;NKX2-1-AS1,upstream_gene_variant,,ENST00000521292,;RP11-896J10.3,intron_variant,,ENST00000521945,;SFTA3,upstream_gene_variant,,ENST00000518987,;SFTA3,upstream_gene_variant,,ENST00000518002,;SFTA3,upstream_gene_variant,,ENST00000521114,;SFTA3,upstream_gene_variant,,ENST00000518446,;SFTA3,upstream_gene_variant,,ENST00000524122,;SFTA3,upstream_gene_variant,,ENST00000418548,;	914	184	176	SUCCESS
CDKL1	8814	.	GRCh37	14	50862544	50862544	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	131	0	ENST00000395834.1:c.46T>C	p.Tyr16His	p.Y16H	ENST00000395834	NM_004196.3	16	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS9699.1	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATAGGATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF153,hmmpanther:PTHR24056,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000379176	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000395834	Transcript	.	.	ENSG00000100490	1781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CDKL1_HUMAN	CDKL1	HGNC	.	.	UPI000013C6E9	SNV	CDKL1,missense_variant,p.Tyr16His,ENST00000216378,;CDKL1,missense_variant,p.Tyr16His,ENST00000395834,;RP11-247L20.3,upstream_gene_variant,,ENST00000556713,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,non_coding_transcript_exon_variant,,ENST00000531052,;CDKL1,downstream_gene_variant,,ENST00000534566,;CDKL1,downstream_gene_variant,,ENST00000530553,;	74	131	118	SUCCESS
SRSF5	6430	.	GRCh37	14	70235936	70235936	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	20	113	1	ENST00000394366.2:c.334G>C	p.Val112Leu	p.V112L	ENST00000394366	NM_001039465.1	112	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS32109.1	334	RADIA|VARSCANS	.	TTATAGTTGAG	BUFFER|p.R109H|c.326G>A|3,BUFFER|p.R109H|c.326G>A|3	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR10548:SF81,hmmpanther:PTHR10548,PROSITE_profiles:PS50102	.	.	ENSP00000452123	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000553521	Transcript	.	.	ENSG00000100650	10787	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SRSF5_HUMAN	SRSF5	HGNC	Q86U32_HUMAN,G3V5K8_HUMAN	.	UPI00001358C0	SNV	SRSF5,missense_variant,p.Val112Leu,ENST00000554021,;SRSF5,missense_variant,p.Val112Leu,ENST00000553521,;SRSF5,missense_variant,p.Val109Leu,ENST00000553635,;SRSF5,missense_variant,p.Val112Leu,ENST00000557154,;SRSF5,missense_variant,p.Val112Leu,ENST00000553369,;SRSF5,missense_variant,p.Val112Leu,ENST00000451983,;SRSF5,missense_variant,p.Val112Leu,ENST00000394366,;SRSF5,missense_variant,p.Val112Leu,ENST00000555349,;SRSF5,downstream_gene_variant,,ENST00000553548,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556587,;SRSF5,upstream_gene_variant,,ENST00000556647,;SRSF5,missense_variant,p.Val112Leu,ENST00000555547,;SRSF5,non_coding_transcript_exon_variant,,ENST00000557460,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554465,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556184,;SRSF5,upstream_gene_variant,,ENST00000554929,;SRSF5,downstream_gene_variant,,ENST00000555412,;SRSF5,downstream_gene_variant,,ENST00000556436,;SRSF5,downstream_gene_variant,,ENST00000557435,;SRSF5,upstream_gene_variant,,ENST00000556330,;	1787	114	110	SUCCESS
AREL1	9870	.	GRCh37	14	75130767	75130767	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	83	0	ENST00000356357.4:c.2204G>A	p.Trp735Ter	p.W735*	ENST00000356357	NM_001039479.1	735	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS41971.1	2204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACCACCTC	NONE	.	.	PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF284,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	.	.	ENSP00000348714	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000356357	Transcript	.	.	ENSG00000119682	20363	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AREL1_HUMAN	AREL1	HGNC	H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN	.	UPI0000073D44	SNV	AREL1,stop_gained,p.Trp574Ter,ENST00000556202,;AREL1,stop_gained,p.Trp735Ter,ENST00000356357,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,stop_gained,p.Trp1?,ENST00000554070,;AREL1,3_prime_UTR_variant,,ENST00000555330,;AREL1,non_coding_transcript_exon_variant,,ENST00000557688,;	2720	83	86	SUCCESS
AP4E1	23431	.	GRCh37	15	51289823	51289823	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs774302336	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	64	0	ENST00000261842.5:c.2647A>G	p.Met883Val	p.M883V	ENST00000261842	NM_001252127.1	883	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS32240.1	2647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACATGGAA	NONE	.	.	hmmpanther:PTHR22780:SF13,hmmpanther:PTHR22780,PIRSF_domain:PIRSF037097	.	.	ENSP00000261842	.	18/21	.	.	.	.	.	.	.	.	rs774302336	18/21	PASS	ENST00000261842	Transcript	1	.	ENSG00000081014	573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.48)	.	AP4E1_HUMAN	AP4E1	HGNC	.	.	UPI00001D89D8	SNV	AP4E1,missense_variant,p.Met883Val,ENST00000261842,;AP4E1,missense_variant,p.Met808Val,ENST00000560508,;AP4E1,upstream_gene_variant,,ENST00000561397,;AP4E1,3_prime_UTR_variant,,ENST00000558439,;AP4E1,3_prime_UTR_variant,,ENST00000561393,;	2753	64	86	SUCCESS
EFTUD1	0	.	GRCh37	15	82444220	82444220	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	107	0	ENST00000268206.7:c.2575G>A	p.Ala859Thr	p.A859T	ENST00000268206	NM_024580.5	859	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42071.1	2575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCTTCTT	NONE	.	.	Superfamily_domains:SSF54211,Gene3D:3.30.230.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF3	.	.	ENSP00000268206	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000268206	Transcript	.	.	ENSG00000140598	25789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.25)	.	ETUD1_HUMAN	EFTUD1	HGNC	H0YNW8_HUMAN	.	UPI00001FEA35	SNV	EFTUD1,missense_variant,p.Ala808Thr,ENST00000359445,;EFTUD1,missense_variant,p.Ala859Thr,ENST00000268206,;EFTUD1,downstream_gene_variant,,ENST00000561340,;	2744	107	104	SUCCESS
MAN2A2	4122	.	GRCh37	15	91450018	91450018	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765045176	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	30	0	ENST00000360468.3:c.884C>A	p.Ser295Tyr	p.S295Y	ENST00000360468	NM_006122.2	295	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS32332.1	884	MUTECT|MUSE	.	CAGCTCCACCA	NONE	.	.	Superfamily_domains:SSF88713,Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	6/22	.	.	.	.	.	.	.	.	rs765045176	6/22	PASS	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Ser295Tyr,ENST00000360468,;MAN2A2,missense_variant,p.Ser295Tyr,ENST00000559717,;MAN2A2,missense_variant,p.Ser172Tyr,ENST00000559132,;MAN2A2,upstream_gene_variant,,ENST00000557865,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,downstream_gene_variant,,ENST00000559999,;MAN2A2,upstream_gene_variant,,ENST00000560616,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,upstream_gene_variant,,ENST00000431652,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000561240,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Ser295Tyr,ENST00000558161,;MAN2A2,missense_variant,p.Ser295Tyr,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000561046,;MAN2A2,upstream_gene_variant,,ENST00000560505,;MAN2A2,upstream_gene_variant,,ENST00000559374,;	902	30	30	SUCCESS
CASKIN1	57524	.	GRCh37	16	2239147	2239147	+	synonymous_variant	Silent	SNP	C	C	T	rs762748655	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	77	1	ENST00000343516.6:c.498G>A	p.Leu166=	p.L166=	ENST00000343516	NM_020764.3	166	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42103.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCAGCTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24177:SF12,hmmpanther:PTHR24177,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000345436	.	6/20	.	.	.	.	.	.	.	.	rs762748655	6/20	PASS	ENST00000343516	Transcript	.	.	ENSG00000167971	20879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSKI1_HUMAN	CASKIN1	HGNC	D3DU87_HUMAN	.	UPI0000073A3B	SNV	CASKIN1,synonymous_variant,p.%3D,ENST00000343516,;CASKIN1,upstream_gene_variant,,ENST00000564289,;CASKIN1,non_coding_transcript_exon_variant,,ENST00000562055,;	591	78	51	SUCCESS
SPN	6693	.	GRCh37	16	29675716	29675716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	93	0	ENST00000360121.3:c.667G>A	p.Val223Ile	p.V223I	ENST00000360121	NM_001030288.2	223	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS10650.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGTCTCT	NONE	.	.	.	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	tolerated(0.5)	.	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,missense_variant,p.Val223Ile,ENST00000360121,;SPN,missense_variant,p.Val223Ile,ENST00000436527,;SPN,missense_variant,p.Val223Ile,ENST00000395389,;QPRT,intron_variant,,ENST00000449759,;SPN,missense_variant,p.Val223Ile,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;	759	93	82	SUCCESS
SRCAP	10847	.	GRCh37	16	30748580	30748584	+	frameshift_variant	Frame_Shift_Del	DEL	CAAGG	CAAGG	-	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	CAAGG	CAAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	68	31	92	0	ENST00000262518.4:c.7219_7223del	p.Gln2407GlyfsTer34	p.Q2407Gfs*34	ENST00000262518	NM_006662.2	2407	CAAGGg/g	0	.	.	.	.	.	-	QG/X	protein_coding	YES	CCDS10689.2	7219-7223	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGACTCAAGGGGCAA	NONE	.	.	hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	.	ENSP00000262518	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	deletion	SRCAP,frameshift_variant,p.Gln2407GlyfsTer34,ENST00000262518,;SRCAP,frameshift_variant,p.Gln2249GlyfsTer34,ENST00000344771,;SRCAP,frameshift_variant,p.Gln2345GlyfsTer34,ENST00000395059,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,frameshift_variant,p.Gln2230GlyfsTer34,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	7604-7608	92	99	SUCCESS
NLRC3	197358	.	GRCh37	16	3613191	3613191	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774299870	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	100	0	ENST00000359128.5:c.1747G>A	p.Val583Met	p.V583M	ENST00000359128		583	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	.	1888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGCTGC	NONE	byFrequency	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF16	.	.	ENSP00000414415	.	3/19	.	.	.	.	.	.	.	.	rs774299870	3/19	PASS	ENST00000448023	Transcript	.	.	ENSG00000167984	29889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.03)	.	.	NLRC3	HGNC	C9JLH9_HUMAN	.	UPI0000246E58	SNV	NLRC3,missense_variant,p.Val583Met,ENST00000301749,;NLRC3,missense_variant,p.Val565Met,ENST00000324659,;NLRC3,missense_variant,p.Val583Met,ENST00000359128,;NLRC3,missense_variant,p.Val630Met,ENST00000448023,;NLRC3,non_coding_transcript_exon_variant,,ENST00000603128,;NLRC3,non_coding_transcript_exon_variant,,ENST00000419350,;NLRC3,downstream_gene_variant,,ENST00000603055,;NLRC3,missense_variant,p.Val630Met,ENST00000603507,;	2075	100	112	SUCCESS
KATNB1	10300	.	GRCh37	16	57788908	57788908	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	80	0	ENST00000379661.3:c.1295A>C	p.Asn432Thr	p.N432T	ENST00000379661	NM_005886.2	432	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS10788.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAATGTAT	NONE	.	.	HAMAP:MF_03022,hmmpanther:PTHR19845	.	.	ENSP00000368982	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000379661	Transcript	.	.	ENSG00000140854	6217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.54)	.	KTNB1_HUMAN	KATNB1	HGNC	H3BTV8_HUMAN,H3BPK1_HUMAN	.	UPI000007388F	SNV	KATNB1,missense_variant,p.Asn61Thr,ENST00000563462,;KATNB1,missense_variant,p.Asn432Thr,ENST00000379661,;KIFC3,downstream_gene_variant,,ENST00000565270,;KIFC3,downstream_gene_variant,,ENST00000539578,;KIFC3,downstream_gene_variant,,ENST00000543930,;KIFC3,downstream_gene_variant,,ENST00000379655,;KIFC3,downstream_gene_variant,,ENST00000540079,;KATNB1,downstream_gene_variant,,ENST00000569627,;KIFC3,downstream_gene_variant,,ENST00000421376,;KIFC3,downstream_gene_variant,,ENST00000465878,;KIFC3,downstream_gene_variant,,ENST00000565397,;KATNB1,downstream_gene_variant,,ENST00000562592,;KIFC3,downstream_gene_variant,,ENST00000445690,;KIFC3,downstream_gene_variant,,ENST00000541240,;KIFC3,downstream_gene_variant,,ENST00000562903,;KATNB1,downstream_gene_variant,,ENST00000566726,;KATNB1,splice_region_variant,,ENST00000566611,;KATNB1,upstream_gene_variant,,ENST00000569018,;KIFC3,downstream_gene_variant,,ENST00000564136,;KATNB1,downstream_gene_variant,,ENST00000563127,;KATNB1,upstream_gene_variant,,ENST00000562542,;KIFC3,downstream_gene_variant,,ENST00000565753,;	1687	80	69	SUCCESS
FHOD1	29109	.	GRCh37	16	67263800	67263800	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1232404830	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	79	0	ENST00000258201.4:c.3308C>T	p.Thr1103Ile	p.T1103I	ENST00000258201	NM_013241.2	1103	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10834.1	3308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGTATCA	NONE	.	.	hmmpanther:PTHR23213:SF189,hmmpanther:PTHR23213	.	.	ENSP00000258201	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000258201	Transcript	.	.	ENSG00000135723	17905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	deleterious(0.04)	.	FHOD1_HUMAN	FHOD1	HGNC	.	.	UPI000013CFB9	SNV	FHOD1,missense_variant,p.Thr1103Ile,ENST00000258201,;TMEM208,downstream_gene_variant,,ENST00000304800,;LRRC29,upstream_gene_variant,,ENST00000433915,;TMEM208,downstream_gene_variant,,ENST00000563953,;LRRC29,upstream_gene_variant,,ENST00000393992,;TMEM208,downstream_gene_variant,,ENST00000565201,;LRRC29,upstream_gene_variant,,ENST00000409509,;LRRC29,upstream_gene_variant,,ENST00000447579,;LRRC29,upstream_gene_variant,,ENST00000424285,;AC040160.1,upstream_gene_variant,,ENST00000454102,;LRRC29,upstream_gene_variant,,ENST00000341546,;TMEM208,downstream_gene_variant,,ENST00000563426,;LRRC29,upstream_gene_variant,,ENST00000485549,;LRRC29,upstream_gene_variant,,ENST00000462169,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;FHOD1,non_coding_transcript_exon_variant,,ENST00000569085,;FHOD1,downstream_gene_variant,,ENST00000567561,;FHOD1,downstream_gene_variant,,ENST00000561922,;TMEM208,downstream_gene_variant,,ENST00000564649,;TMEM208,downstream_gene_variant,,ENST00000563168,;FHOD1,downstream_gene_variant,,ENST00000568595,;FHOD1,downstream_gene_variant,,ENST00000567509,;TMEM208,downstream_gene_variant,,ENST00000564087,;TMEM208,downstream_gene_variant,,ENST00000566486,;FHOD1,downstream_gene_variant,,ENST00000566006,;TMEM208,downstream_gene_variant,,ENST00000567193,;FHOD1,downstream_gene_variant,,ENST00000562266,;FHOD1,downstream_gene_variant,,ENST00000569888,;TMEM208,downstream_gene_variant,,ENST00000562235,;TMEM208,downstream_gene_variant,,ENST00000561586,;TMEM208,downstream_gene_variant,,ENST00000563271,;	3556	79	87	SUCCESS
CYBA	1535	.	GRCh37	16	88713210	88713210	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373948664	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	62	0	ENST00000261623.3:c.240C>A	p.Phe80Leu	p.F80L	ENST00000261623	NM_000101.3	80	ttC/ttA	0	A:0	.	.	.	.	T	F/L	protein_coding	YES	CCDS32504.1	240	RADIA|MUTECT|MUSE	.	GGCCCGAACAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15168:SF0,hmmpanther:PTHR15168,Pfam_domain:PF05038,PIRSF_domain:PIRSF019635	.	A:0.0002	ENSP00000261623	.	4/6	.	.	.	.	.	.	.	.	rs373948664,COSM3513193	4/6	PASS	ENST00000261623	Transcript	.	.	ENSG00000051523	2577	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.023)	.	tolerated(0.75)	0,1	CY24A_HUMAN	CYBA	HGNC	.	.	UPI000013D1BE	SNV	CYBA,missense_variant,p.Phe80Leu,ENST00000567174,;CYBA,missense_variant,p.Phe80Leu,ENST00000568278,;CYBA,missense_variant,p.Phe80Leu,ENST00000569359,;CYBA,missense_variant,p.Phe80Leu,ENST00000261623,;CYBA,synonymous_variant,p.%3D,ENST00000566229,;CYBA,synonymous_variant,p.%3D,ENST00000565588,;CYBA,downstream_gene_variant,,ENST00000561972,;CYBA,non_coding_transcript_exon_variant,,ENST00000563526,;CYBA,non_coding_transcript_exon_variant,,ENST00000562209,;CYBA,non_coding_transcript_exon_variant,,ENST00000566534,;	379	62	64	SUCCESS
ANKRD11	29123	.	GRCh37	16	89349353	89349353	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	35	1	ENST00000301030.4:c.3597G>T	p.Glu1199Asp	p.E1199D	ENST00000301030	NM_001256183.1	1199	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS32513.1	3597	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCTCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.032)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Glu1199Asp,ENST00000378330,;ANKRD11,missense_variant,p.Glu1199Asp,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	4058	36	36	SUCCESS
MYBBP1A	10514	.	GRCh37	17	4451500	4451500	+	synonymous_variant	Silent	SNP	A	A	G	rs769235541	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	63	0	ENST00000254718.4:c.1662T>C	p.Asn554=	p.N554=	ENST00000254718		554	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS42238.1	1662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGATTCAA	NONE	.	.	hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213,Pfam_domain:PF04931,Superfamily_domains:SSF48371	.	.	ENSP00000370968	.	12/27	.	.	.	.	.	.	.	.	rs769235541,COSM3518382	12/27	PASS	ENST00000381556	Transcript	.	.	ENSG00000132382	7546	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MBB1A_HUMAN	MYBBP1A	HGNC	.	.	UPI0000551C8B	SNV	MYBBP1A,synonymous_variant,p.%3D,ENST00000573723,;MYBBP1A,synonymous_variant,p.%3D,ENST00000254718,;MYBBP1A,synonymous_variant,p.%3D,ENST00000381556,;MYBBP1A,synonymous_variant,p.%3D,ENST00000573116,;MYBBP1A,upstream_gene_variant,,ENST00000572759,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000573175,;MYBBP1A,upstream_gene_variant,,ENST00000571368,;MYBBP1A,downstream_gene_variant,,ENST00000570986,;MYBBP1A,upstream_gene_variant,,ENST00000574547,;MYBBP1A,upstream_gene_variant,,ENST00000571354,;	1724	63	57	SUCCESS
SMIM5	643008	.	GRCh37	17	73636256	73636256	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	27	0	ENST00000375215.3:c.-26G>T		p.*9*	ENST00000375215	NM_001162995.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGAGCCC	NONE	.	.	.	.	.	ENSP00000477017	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000537494	Transcript	.	.	ENSG00000204323	40030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SMIM5	HGNC	.	.	UPI0000052778	SNV	SMIM5,5_prime_UTR_variant,,ENST00000375215,;SMIM5,5_prime_UTR_variant,,ENST00000537494,;RECQL5,intron_variant,,ENST00000578201,;RECQL5,intron_variant,,ENST00000423245,;RECQL5,intron_variant,,ENST00000317905,;RECQL5,upstream_gene_variant,,ENST00000580707,;RECQL5,upstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000579739,;RECQL5,intron_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000581827,;	3582	27	30	SUCCESS
INO80C	125476	.	GRCh37	18	33077858	33077858	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	51	174	0	ENST00000334598.7:c.-20A>T		p.*7*	ENST00000334598	NM_194281.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45853.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGGTCC	NONE	.	.	.	.	.	ENSP00000391457	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000441607	Transcript	.	.	ENSG00000153391	26994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IN80C_HUMAN	INO80C	HGNC	K7EIY8_HUMAN,K7EKI6_HUMAN	.	UPI0000201BD0	SNV	INO80C,5_prime_UTR_variant,,ENST00000334598,;RP11-322E11.6,5_prime_UTR_variant,,ENST00000589258,;INO80C,5_prime_UTR_variant,,ENST00000441607,;INO80C,5_prime_UTR_variant,,ENST00000592173,;INO80C,5_prime_UTR_variant,,ENST00000590757,;INO80C,5_prime_UTR_variant,,ENST00000587450,;INO80C,upstream_gene_variant,,ENST00000589273,;INO80C,upstream_gene_variant,,ENST00000586489,;INO80C,5_prime_UTR_variant,,ENST00000586449,;INO80C,non_coding_transcript_exon_variant,,ENST00000589053,;INO80C,non_coding_transcript_exon_variant,,ENST00000283410,;INO80C,non_coding_transcript_exon_variant,,ENST00000585971,;	50	174	179	SUCCESS
SBNO2	22904	.	GRCh37	19	1119995	1119995	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	66	0	ENST00000361757.3:c.1177A>G	p.Lys393Glu	p.K393E	ENST00000361757	NM_014963.2	393	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS45894.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTTGGCTT	NONE	.	.	hmmpanther:PTHR12706:SF5,hmmpanther:PTHR12706,Gene3D:3.40.50.300,Pfam_domain:PF13872,Superfamily_domains:SSF52540	.	.	ENSP00000354733	.	12/32	.	.	.	.	.	.	.	.	.	12/32	PASS	ENST00000361757	Transcript	.	.	ENSG00000064932	29158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	SBNO2_HUMAN	SBNO2	HGNC	K7ERL2_HUMAN,K7ENA9_HUMAN	.	UPI0000140680	SNV	SBNO2,missense_variant,p.Lys336Glu,ENST00000438103,;SBNO2,missense_variant,p.Lys393Glu,ENST00000587024,;SBNO2,missense_variant,p.Lys393Glu,ENST00000361757,;SBNO2,non_coding_transcript_exon_variant,,ENST00000592222,;SBNO2,non_coding_transcript_exon_variant,,ENST00000590446,;	1415	66	60	SUCCESS
ZNF442	79973	.	GRCh37	19	12461659	12461659	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	101	0	ENST00000242804.4:c.740C>G	p.Pro247Arg	p.P247R	ENST00000242804	NM_030824.2	247	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12271.1	740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAGGGAAG	BUFFER|p.C243C|c.729T>C|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000242804	.	6/6	.	.	.	.	.	.	.	.	COSM709978,COSM991253	6/6	PASS	ENST00000242804	Transcript	.	.	ENSG00000198342	20877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.012)	.	tolerated(0.54)	1,1	ZN442_HUMAN	ZNF442	HGNC	C9JC15_HUMAN,B4DJ48_HUMAN	.	UPI000006D14F	SNV	ZNF442,missense_variant,p.Pro178Arg,ENST00000438182,;ZNF442,missense_variant,p.Pro247Arg,ENST00000242804,;ZNF442,downstream_gene_variant,,ENST00000424168,;CTD-3105H18.13,upstream_gene_variant,,ENST00000563695,;ZNF442,downstream_gene_variant,,ENST00000462995,;	1323	101	97	SUCCESS
SLC25A42	284439	.	GRCh37	19	19217109	19217109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1236169194	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	42	0	ENST00000318596.7:c.412G>A	p.Gly138Ser	p.G138S	ENST00000318596	NM_178526.4	138	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32966.1	412	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCGGCGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF242,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000326693	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000318596	Transcript	.	.	ENSG00000181035	28380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	S2542_HUMAN	SLC25A42	HGNC	.	.	UPI0000198748	SNV	SLC25A42,missense_variant,p.Gly138Ser,ENST00000318596,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000600275,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000596819,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000597661,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000594070,;SLC25A42,downstream_gene_variant,,ENST00000600251,;	563	42	52	SUCCESS
ZNF208	7757	.	GRCh37	19	22193718	22193718	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	40	0	ENST00000397126.4:c.-122C>G		p.*41*	ENST00000397126	NM_007153.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54240.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGACCTC	NONE	.	.	.	.	.	ENSP00000380315	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,5_prime_UTR_variant,,ENST00000601773,;ZNF208,5_prime_UTR_variant,,ENST00000601993,;ZNF208,5_prime_UTR_variant,,ENST00000599916,;ZNF208,5_prime_UTR_variant,,ENST00000597040,;ZNF208,5_prime_UTR_variant,,ENST00000397126,;	28	40	35	SUCCESS
ZNF565	147929	.	GRCh37	19	36686037	36686037	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs766175480	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	60	175	0	ENST00000355114.5:c.151G>A	p.Val51Met	p.V51M	ENST00000355114		51	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS12491.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGTCCC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF70,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000376013	.	3/5	.	.	.	.	.	.	.	.	rs766175480	3/5	PASS	ENST00000392173	Transcript	.	.	ENSG00000196357	26726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ZN565_HUMAN	ZNF565	HGNC	K7ESE2_HUMAN,K7EL42_HUMAN	.	UPI000006E728	SNV	ZNF565,missense_variant,p.Val11Met,ENST00000585994,;ZNF565,missense_variant,p.Val11Met,ENST00000392173,;ZNF565,missense_variant,p.Val11Met,ENST00000304116,;ZNF565,missense_variant,p.Val51Met,ENST00000355114,;ZNF565,5_prime_UTR_variant,,ENST00000591473,;ZNF565,non_coding_transcript_exon_variant,,ENST00000587803,;ZNF565,non_coding_transcript_exon_variant,,ENST00000586648,;	290	175	168	SUCCESS
CEACAM8	1088	.	GRCh37	19	43093887	43093887	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs142428970	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	51	0	ENST00000244336.5:c.425C>A	p.Pro142Gln	p.P142Q	ENST00000244336	NM_001816.3	142	cCg/cAg	0	A:0.0005	A:0	.	A:0	.	T	P/Q	protein_coding	YES	CCDS12610.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCGCTGTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19955:SF60,hmmpanther:PTHR19955	A:0	A:0.0001	ENSP00000244336	A:0.001	3/6	.	.	.	.	.	.	.	.	rs142428970,COSM243628	3/6	PASS	ENST00000244336	Transcript	.	A:0.0002	ENSG00000124469	1820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.014)	A:0	tolerated(0.47)	0,1	CEAM8_HUMAN	CEACAM8	HGNC	Q0Z7S6_HUMAN	.	UPI00000012A3	SNV	CEACAM8,missense_variant,p.Pro142Gln,ENST00000244336,;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;	527	51	49	SUCCESS
MYPOP	339344	.	GRCh37	19	46394252	46394252	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	37	78	0	ENST00000322217.5:c.829G>A	p.Ala277Thr	p.A277T	ENST00000322217	NM_001012643.2	277	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33055.1	829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCCAGCT	NONE	.	.	hmmpanther:PTHR32345:SF2,hmmpanther:PTHR32345	.	.	ENSP00000325402	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000322217	Transcript	.	.	ENSG00000176182	20178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.64)	.	MYPOP_HUMAN	MYPOP	HGNC	.	.	UPI00001984F8	SNV	MYPOP,missense_variant,p.Ala277Thr,ENST00000322217,;IRF2BP1,upstream_gene_variant,,ENST00000302165,;	916	78	88	SUCCESS
DPP9	91039	.	GRCh37	19	4683489	4683489	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	112	0	ENST00000598800.1:c.2244G>T	p.Lys748Asn	p.K748N	ENST00000598800		748	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS45928.1	2331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTTGAA	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Gene3D:3.40.50.1820,Pfam_domain:PF00326,Superfamily_domains:SSF53474	.	.	ENSP00000262960	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,missense_variant,p.Lys777Asn,ENST00000262960,;DPP9,missense_variant,p.Lys748Asn,ENST00000598800,;DPP9,missense_variant,p.Lys748Asn,ENST00000594671,;DPP9,missense_variant,p.Lys165Asn,ENST00000601720,;DPP9,downstream_gene_variant,,ENST00000595327,;AC005594.3,intron_variant,,ENST00000381796,;DPP9,splice_region_variant,,ENST00000601173,;DPP9,splice_region_variant,,ENST00000597145,;DPP9,splice_region_variant,,ENST00000597900,;DPP9,downstream_gene_variant,,ENST00000597253,;	2609	112	101	SUCCESS
KLK9	284366	.	GRCh37	19	51507011	51507011	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	rs147491832	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	33	93	0	ENST00000250366.6:c.552G>A	p.Ser184=	p.S184=	ENST00000250366	NM_012315.1	184	tcG/tcA	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	CCDS12816.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCGAGAT	NONE	byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF72,hmmpanther:PTHR24259,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	T:0.0002	ENSP00000366028	.	4/7	.	.	.	.	.	.	.	.	rs147491832	4/7	PASS	ENST00000376832	Transcript	.	.	ENSG00000213022	6370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLK9_HUMAN	KLK9	HGNC	Q2XQG6_HUMAN,Q2XQG4_HUMAN	.	UPI000004CA0A	SNV	KLK9,synonymous_variant,p.%3D,ENST00000376832,;KLK9,synonymous_variant,p.%3D,ENST00000594211,;KLK8,upstream_gene_variant,,ENST00000291726,;KLK8,upstream_gene_variant,,ENST00000347619,;KLK8,upstream_gene_variant,,ENST00000391806,;KLK8,upstream_gene_variant,,ENST00000320838,;KLK8,upstream_gene_variant,,ENST00000600767,;KLK8,upstream_gene_variant,,ENST00000595238,;KLK8,upstream_gene_variant,,ENST00000593490,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK9,synonymous_variant,p.%3D,ENST00000250366,;KLK9,synonymous_variant,p.%3D,ENST00000599166,;KLK9,3_prime_UTR_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594669,;KLK8,upstream_gene_variant,,ENST00000599710,;	586	93	104	SUCCESS
VN1R2	317701	.	GRCh37	19	53761895	53761895	+	synonymous_variant	Silent	SNP	G	G	T	rs748198419	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	46	127	0	ENST00000341702.3:c.267G>T	p.Gly89=	p.G89=	ENST00000341702	NM_173856.2	89	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12862.1	267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGCTGGA	NONE	byFrequency	.	hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	rs748198419	1/1	PASS	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,synonymous_variant,p.%3D,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	351	127	141	SUCCESS
MCOLN1	57192	.	GRCh37	19	7593583	7593583	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	35	80	0	ENST00000264079.6:c.978G>A	p.Leu326=	p.L326=	ENST00000264079	NM_020533.2	326	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12180.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCAGAA	NONE	.	.	hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF6	.	.	ENSP00000264079	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000264079	Transcript	1	.	ENSG00000090674	13356	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCLN1_HUMAN	MCOLN1	HGNC	B4DFZ1_HUMAN	.	UPI00000377A2	SNV	MCOLN1,synonymous_variant,p.%3D,ENST00000264079,;MCOLN1,upstream_gene_variant,,ENST00000599334,;MCOLN1,downstream_gene_variant,,ENST00000601003,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000394321,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000595860,;CTD-2207O23.10,upstream_gene_variant,,ENST00000601870,;MCOLN1,downstream_gene_variant,,ENST00000596008,;MCOLN1,upstream_gene_variant,,ENST00000602227,;MCOLN1,upstream_gene_variant,,ENST00000594692,;MCOLN1,downstream_gene_variant,,ENST00000598406,;MCOLN1,downstream_gene_variant,,ENST00000596390,;	1103	80	99	SUCCESS
LOR	0	.	GRCh37	1	153233515	153233515	+	synonymous_variant	Silent	SNP	C	C	T	rs747858365	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	80	0	ENST00000368742.3:c.90C>T	p.Gly30=	p.G30=	ENST00000368742	NM_000427.2	30	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30870.1	90	MUTECT|MUSE	.	AGCGGCGGTGG	BUFFER|p.G27G|c.81C>T|6,BUFFER|p.S29G|c.85A>G|4	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51257	.	.	ENSP00000357731	.	2/2	.	.	.	.	.	.	.	.	rs747858365	2/2	PASS	ENST00000368742	Transcript	.	.	ENSG00000203782	6663	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LORI_HUMAN	LOR	HGNC	Q6FHY3_HUMAN	.	UPI0000470BBD	SNV	LOR,synonymous_variant,p.%3D,ENST00000368742,;	147	80	85	SUCCESS
RP3-467K16.2	0	.	GRCh37	1	15653435	15653435	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	38	100	0	ENST00000428747.1:n.2846A>T		p.*949*	ENST00000428747				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAATGGTCA	NONE	.	.	.	.	.	ENSP00000365163	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375995	Transcript	.	.	ENSG00000142621	29408	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FHAD1	HGNC	Q5JYW1_HUMAN	.	UPI0000470917	SNV	FHAD1,intron_variant,,ENST00000375997,;FHAD1,intron_variant,,ENST00000524761,;FHAD1,intron_variant,,ENST00000401090,;FHAD1,intron_variant,,ENST00000417793,;FHAD1,intron_variant,,ENST00000358897,;FHAD1,intron_variant,,ENST00000375995,;FHAD1,intron_variant,,ENST00000375998,;FHAD1,intron_variant,,ENST00000375999,;RP3-467K16.2,non_coding_transcript_exon_variant,,ENST00000428747,;FHAD1,upstream_gene_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000472131,;FHAD1,non_coding_transcript_exon_variant,,ENST00000459961,;FHAD1,intron_variant,,ENST00000375996,;	.	100	125	SUCCESS
CD5L	922	.	GRCh37	1	157803090	157803090	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	117	0	ENST00000368174.4:c.931G>T	p.Asp311Tyr	p.D311Y	ENST00000368174	NM_005894.2	311	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS1171.1	931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATCCAGCC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	.	.	ENSP00000357156	.	5/6	.	.	.	.	.	.	.	.	COSM1498750	5/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,missense_variant,p.Asp311Tyr,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	1028	117	114	SUCCESS
LHX4	89884	.	GRCh37	1	180240952	180240952	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	34	122	0	ENST00000263726.2:c.607-18C>G		p.*203*	ENST00000263726	NM_033343.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1338.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCTTGTG	NONE	.	.	.	.	.	ENSP00000263726	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263726	Transcript	.	.	ENSG00000121454	21734	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX4_HUMAN	LHX4	HGNC	Q96JP7_HUMAN,Q5RLJ3_HUMAN,Q5RLJ2_HUMAN,Q5RLJ1_HUMAN	.	UPI000007340D	SNV	LHX4,intron_variant,,ENST00000263726,;RP5-1180C10.2,non_coding_transcript_exon_variant,,ENST00000415414,;RP5-1180C10.2,downstream_gene_variant,,ENST00000440959,;ACBD6,downstream_gene_variant,,ENST00000496993,;LHX4,intron_variant,,ENST00000561113,;	.	122	99	SUCCESS
PRG4	10216	.	GRCh37	1	186277296	186277296	+	synonymous_variant	Silent	SNP	T	T	C	rs761071862	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	59	121	0	ENST00000445192.2:c.2445T>C	p.Ser815=	p.S815=	ENST00000445192	NM_005807.3	815	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1369.1	2445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTGACAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1	.	.	ENSP00000399679	.	7/13	.	.	.	.	.	.	.	.	rs761071862,COSM346559	7/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	SNV	PRG4,synonymous_variant,p.%3D,ENST00000367482,;PRG4,synonymous_variant,p.%3D,ENST00000367486,;PRG4,synonymous_variant,p.%3D,ENST00000367483,;PRG4,synonymous_variant,p.%3D,ENST00000367485,;PRG4,synonymous_variant,p.%3D,ENST00000445192,;PRG4,intron_variant,,ENST00000367484,;TPR,downstream_gene_variant,,ENST00000367478,;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	2490	121	143	SUCCESS
CNTN2	6900	.	GRCh37	1	205027106	205027106	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	51	199	0	ENST00000331830.4:c.128C>T	p.Pro43Leu	p.P43L	ENST00000331830	NM_005076.3	43	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS1449.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCCTCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50835	.	.	ENSP00000330633	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,missense_variant,p.Pro43Leu,ENST00000331830,;AL583832.1,upstream_gene_variant,,ENST00000515887,;CNTN2,non_coding_transcript_exon_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000527340,;CNTN2,upstream_gene_variant,,ENST00000481872,;	412	199	171	SUCCESS
NUP133	55746	.	GRCh37	1	229631653	229631653	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748657208	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	32	0	ENST00000261396.3:c.961A>G	p.Thr321Ala	p.T321A	ENST00000261396	NM_018230.2	321	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS1579.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGGTAATGT	NONE	.	.	Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	7/26	.	.	.	.	.	.	.	.	rs748657208	7/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Thr305Ala,ENST00000537506,;NUP133,missense_variant,p.Thr321Ala,ENST00000261396,;NUP133,downstream_gene_variant,,ENST00000366678,;	1053	32	26	SUCCESS
KDM1A	23028	.	GRCh37	1	23370953	23370953	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	18	99	0	ENST00000356634.3:c.518-5927G>C		p.*173*	ENST00000356634	NM_015013.3	184		0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS53278.1	551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGAGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10742:SF245,hmmpanther:PTHR10742,PIRSF_domain:PIRSF038051	.	.	ENSP00000383042	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000400181	Transcript	.	.	ENSG00000004487	29079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated_low_confidence(0.49)	.	KDM1A_HUMAN	KDM1A	HGNC	.	.	UPI0000403137	SNV	KDM1A,missense_variant,p.Gly184Ala,ENST00000542151,;KDM1A,missense_variant,p.Gly184Ala,ENST00000400181,;KDM1A,intron_variant,,ENST00000356634,;MIR3115,downstream_gene_variant,,ENST00000577915,;RP1-184J9.2,intron_variant,,ENST00000427154,;	655	99	105	SUCCESS
LGALS8	3964	.	GRCh37	1	236703931	236703931	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	47	0	ENST00000341872.6:c.413T>C	p.Leu138Pro	p.L138P	ENST00000341872	NM_201543.2	138	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS1611.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTGGGCA	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF22,Pfam_domain:PF00337,Gene3D:2.60.120.200,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000435460	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000526589	Transcript	.	.	ENSG00000116977	6569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	LEG8_HUMAN	LGALS8	HGNC	Q5T3P9_HUMAN,E9PPL1_HUMAN,E9PJ77_HUMAN,B1ANM0_HUMAN	.	UPI0000169CE4	SNV	LGALS8,missense_variant,p.Leu138Pro,ENST00000454943,;LGALS8,missense_variant,p.Leu111Pro,ENST00000323938,;LGALS8,missense_variant,p.Leu138Pro,ENST00000527974,;LGALS8,missense_variant,p.Leu138Pro,ENST00000526634,;LGALS8,missense_variant,p.Leu138Pro,ENST00000366584,;LGALS8,missense_variant,p.Leu138Pro,ENST00000526589,;LGALS8,missense_variant,p.Leu138Pro,ENST00000406509,;LGALS8,missense_variant,p.Leu138Pro,ENST00000352231,;LGALS8,missense_variant,p.Leu138Pro,ENST00000341872,;LGALS8,missense_variant,p.Leu138Pro,ENST00000450372,;LGALS8,intron_variant,,ENST00000238181,;LGALS8,intron_variant,,ENST00000430527,;LGALS8,intron_variant,,ENST00000416919,;LGALS8,intron_variant,,ENST00000525042,;LGALS8,downstream_gene_variant,,ENST00000481485,;LGALS8,downstream_gene_variant,,ENST00000529489,;RP11-385F5.4,intron_variant,,ENST00000433131,;RP11-385F5.5,upstream_gene_variant,,ENST00000608547,;LGALS8,3_prime_UTR_variant,,ENST00000434231,;LGALS8,non_coding_transcript_exon_variant,,ENST00000528259,;LGALS8,non_coding_transcript_exon_variant,,ENST00000366583,;LGALS8,intron_variant,,ENST00000442397,;LGALS8,intron_variant,,ENST00000528782,;LGALS8,upstream_gene_variant,,ENST00000532640,;LGALS8,upstream_gene_variant,,ENST00000489586,;LGALS8,upstream_gene_variant,,ENST00000526652,;LGALS8,downstream_gene_variant,,ENST00000532826,;LGALS8,upstream_gene_variant,,ENST00000529796,;LGALS8,upstream_gene_variant,,ENST00000525789,;	933	47	51	SUCCESS
BAI2	0	.	GRCh37	1	32193549	32193549	+	intron_variant	Intron	SNP	C	C	T	rs750198819	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	28	0	ENST00000373658.3:c.4572+77G>A		p.*1524*	ENST00000373658	NM_001703.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS346.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGCCTGGG	NONE	.	.	.	.	.	ENSP00000362762	.	.	.	.	.	.	.	.	.	.	rs750198819	.	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	MODIFIER	32/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,intron_variant,,ENST00000398538,;BAI2,intron_variant,,ENST00000373658,;BAI2,intron_variant,,ENST00000398547,;BAI2,intron_variant,,ENST00000527361,;BAI2,intron_variant,,ENST00000398556,;BAI2,intron_variant,,ENST00000257070,;BAI2,intron_variant,,ENST00000398542,;BAI2,intron_variant,,ENST00000373655,;BAI2,intron_variant,,ENST00000440175,;BAI2,non_coding_transcript_exon_variant,,ENST00000465256,;BAI2,intron_variant,,ENST00000465239,;BAI2,downstream_gene_variant,,ENST00000484002,;BAI2,intron_variant,,ENST00000530999,;BAI2,intron_variant,,ENST00000525655,;	.	28	31	SUCCESS
COL8A2	1296	.	GRCh37	1	36565003	36565003	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	43	0	ENST00000303143.4:c.279C>G	p.Pro93=	p.P93=	ENST00000303143	NM_005202.2	93	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS403.1	279	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24022:SF74,hmmpanther:PTHR24022	.	.	ENSP00000380901	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397799	Transcript	.	.	ENSG00000171812	2216	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO8A2_HUMAN	COL8A2	HGNC	R9UH34_HUMAN,Q4VAQ1_HUMAN,E9PP49_HUMAN	.	UPI00001B2F2D	SNV	COL8A2,synonymous_variant,p.%3D,ENST00000303143,;COL8A2,synonymous_variant,p.%3D,ENST00000481785,;COL8A2,synonymous_variant,p.%3D,ENST00000397799,;	504	43	42	SUCCESS
HIVEP3	59269	.	GRCh37	1	42041241	42041241	+	synonymous_variant	Silent	SNP	C	C	T	rs753210157	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	56	0	ENST00000247584.5:c.5181G>A	p.Pro1727=	p.P1727=	ENST00000247584		1727	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS463.1	5181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCCGGCTC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,synonymous_variant,p.%3D,ENST00000429157,;HIVEP3,synonymous_variant,p.%3D,ENST00000372584,;HIVEP3,synonymous_variant,p.%3D,ENST00000247584,;HIVEP3,synonymous_variant,p.%3D,ENST00000372583,;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	6067	56	83	SUCCESS
CYP4A22	284541	.	GRCh37	1	47610597	47610597	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	50	159	0	ENST00000371891.3:c.1177C>T	p.Leu393Phe	p.L393F	ENST00000371891	NM_001010969.2	393	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS30707.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCTCAGC	BUFFER|p.G390G|c.1170A>C|4	.	.	hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000360958	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000371891	Transcript	.	.	ENSG00000162365	20575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	deleterious(0)	.	CP4AM_HUMAN	CYP4A22	HGNC	.	.	UPI00002371F0	SNV	CYP4A22,missense_variant,p.Leu295Phe,ENST00000371890,;CYP4A22,missense_variant,p.Leu393Phe,ENST00000294337,;CYP4A22,missense_variant,p.Leu393Phe,ENST00000371891,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	1208	159	160	SUCCESS
CHD5	26038	.	GRCh37	1	6214807	6214807	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	109	0	ENST00000262450.3:c.658G>A	p.Val220Ile	p.V220I	ENST00000262450	NM_015557.2	220	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS57.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGACCGTCT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583	.	.	ENSP00000262450	.	5/42	.	.	.	.	.	.	.	.	.	5/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	tolerated(0.13)	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,missense_variant,p.Val220Ile,ENST00000262450,;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Val220Ile,ENST00000496404,;	758	109	100	SUCCESS
FOXD3	27022	.	GRCh37	1	63788897	63788897	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	134	0	ENST00000371116.2:c.168C>T	p.Asp56=	p.D56=	ENST00000371116	NM_012183.2	56	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS624.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGACGAGGC	NONE	.	.	hmmpanther:PTHR11829:SF121,hmmpanther:PTHR11829	.	.	ENSP00000360157	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371116	Transcript	.	.	ENSG00000187140	3804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXD3_HUMAN	FOXD3	HGNC	.	.	UPI000012ADCB	SNV	FOXD3,synonymous_variant,p.%3D,ENST00000371116,;RP4-792G4.2,intron_variant,,ENST00000431294,;RP4-792G4.2,intron_variant,,ENST00000427268,;RP4-792G4.2,upstream_gene_variant,,ENST00000418244,;RP4-792G4.2,upstream_gene_variant,,ENST00000449386,;RP4-792G4.2,upstream_gene_variant,,ENST00000426393,;	168	134	101	SUCCESS
BAGE2	85319	.	GRCh37	21	11021170	11021170	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	452	23	391	0	ENST00000470054.1:n.1755A>C		p.*585*	ENST00000470054				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GAGTTTTCTTC	NONE	.	.	.	.	.	.	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1755	391	475	SUCCESS
POTED	317754	.	GRCh37	21	15013824	15013824	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	75	245	0	ENST00000299443.5:c.1692G>A	p.Lys564=	p.K564=	ENST00000299443	NM_174981.3	564	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS13562.1	1692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAGACTGA	NONE	.	.	Pfam_domain:PF14915,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38	.	.	ENSP00000299443	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000299443	Transcript	.	.	ENSG00000166351	23822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTED_HUMAN	POTED	HGNC	.	.	UPI00001AECB3	SNV	POTED,synonymous_variant,p.%3D,ENST00000299443,;MIR3118-5,downstream_gene_variant,,ENST00000581787,;	1744	245	272	SUCCESS
OLIG2	10215	.	GRCh37	21	34399755	34399755	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	31	0	ENST00000333337.3:c.585C>A	p.Ser195=	p.S195=	ENST00000333337		195	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13620.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCCGCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19290:SF32,hmmpanther:PTHR19290	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,synonymous_variant,p.%3D,ENST00000382357,;OLIG2,synonymous_variant,p.%3D,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	1513	31	40	SUCCESS
BACE2-IT1	282569	.	GRCh37	21	42552186	42552186	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	91	0	ENST00000433378.1:n.163T>G		p.*55*	ENST00000433378				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13668.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTATTTTAGC	NONE	.	.	.	.	.	ENSP00000332979	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,intron_variant,,ENST00000328735,;BACE2,intron_variant,,ENST00000347667,;BACE2,intron_variant,,ENST00000330333,;BACE2-IT1,non_coding_transcript_exon_variant,,ENST00000433378,;PLAC4,intron_variant,,ENST00000536486,;PLAC4,intron_variant,,ENST00000430327,;PLAC4,intron_variant,,ENST00000440221,;PLAC4,downstream_gene_variant,,ENST00000414699,;	.	91	88	SUCCESS
BACE2	25825	.	GRCh37	21	42609437	42609437	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	59	0	ENST00000330333.6:c.402-3C>A		p.X134_splice	ENST00000330333	NM_012105.4	134		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13668.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCAGGTC	NONE	.	.	.	.	.	ENSP00000332979	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	LOW	2/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,splice_region_variant,,ENST00000328735,;BACE2,splice_region_variant,,ENST00000330333,;BACE2,splice_region_variant,,ENST00000347667,;BACE2,splice_region_variant,,ENST00000465326,;BACE2,splice_region_variant,,ENST00000470864,;BACE2,splice_region_variant,,ENST00000466122,;BACE2,splice_region_variant,,ENST00000487994,;BACE2,upstream_gene_variant,,ENST00000463674,;BACE2,splice_region_variant,,ENST00000491838,;	.	59	69	SUCCESS
BIN1	274	.	GRCh37	2	127808484	127808484	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766890661	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	29	290	0	ENST00000316724.5:c.1466C>A	p.Ser489Tyr	p.S489Y	ENST00000316724	NM_139343.2	489	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2138.1	1466	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGAGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10321:SF24,hmmpanther:PTHR10321	.	.	ENSP00000316779	.	17/19	.	.	.	.	.	.	.	.	rs766890661	17/19	PASS	ENST00000316724	Transcript	.	.	ENSG00000136717	1052	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.87)	.	deleterious(0)	.	BIN1_HUMAN	BIN1	HGNC	.	.	UPI0000001303	SNV	BIN1,missense_variant,p.Ser402Tyr,ENST00000351659,;BIN1,missense_variant,p.Ser489Tyr,ENST00000316724,;BIN1,missense_variant,p.Ser371Tyr,ENST00000393041,;BIN1,missense_variant,p.Ser378Tyr,ENST00000393040,;BIN1,missense_variant,p.Ser305Tyr,ENST00000348750,;BIN1,missense_variant,p.Ser446Tyr,ENST00000357970,;BIN1,missense_variant,p.Ser414Tyr,ENST00000346226,;BIN1,missense_variant,p.Ser335Tyr,ENST00000409400,;BIN1,missense_variant,p.Ser393Tyr,ENST00000259238,;BIN1,missense_variant,p.Ser350Tyr,ENST00000352848,;BIN1,missense_variant,p.Ser320Tyr,ENST00000376113,;BIN1,non_coding_transcript_exon_variant,,ENST00000484253,;BIN1,non_coding_transcript_exon_variant,,ENST00000466111,;BIN1,non_coding_transcript_exon_variant,,ENST00000462958,;	1878	290	196	SUCCESS
ANKRD30BL	554226	.	GRCh37	2	132919229	132919229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	29	139	0	ENST00000409867.1:c.50G>A	p.Arg17His	p.R17H	ENST00000409867		17	cGc/cAc	0	.	.	.	.	.	T	R/H	nonsense_mediated_decay	YES	.	50	RADIA|VARSCANS	.	TCGGGCGCTCT	NONE	.	.	hmmpanther:PTHR24147	.	.	ENSP00000295181	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000295181	Transcript	.	.	ENSG00000163046	35167	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.209)	.	deleterious(0.02)	.	A30BL_HUMAN	ANKRD30BL	HGNC	.	.	UPI000022BC26	SNV	ANKRD30BL,missense_variant,p.Arg17His,ENST00000409867,;ANKRD30BL,intron_variant,,ENST00000470729,;ANKRD30BL,upstream_gene_variant,,ENST00000471048,;ANKRD30BL,missense_variant,p.Arg17His,ENST00000295181,;ANKRD30BL,non_coding_transcript_exon_variant,,ENST00000481691,;	300	139	128	SUCCESS
TMEFF2	23671	.	GRCh37	2	192820997	192820997	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs751397117	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	66	0	ENST00000272771.5:c.853C>T	p.Gln285Ter	p.Q285*	ENST00000272771	NM_016192.2	285	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS2314.1	853	RADIA|MUSE|VARSCANS	.	CTCCTGCATAT	NONE	.	.	Superfamily_domains:SSF57196,Gene3D:2.10.25.10,hmmpanther:PTHR10574,PROSITE_profiles:PS50026	.	.	ENSP00000272771	.	8/10	.	.	.	.	.	.	.	.	rs751397117	8/10	PASS	ENST00000272771	Transcript	.	.	ENSG00000144339	11867	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEFF2_HUMAN	TMEFF2	HGNC	.	.	UPI0000048F19	SNV	TMEFF2,stop_gained,p.Gln285Ter,ENST00000272771,;TMEFF2,stop_gained,p.Gln285Ter,ENST00000392314,;AC098617.1,intron_variant,,ENST00000424116,;AC098617.1,intron_variant,,ENST00000428980,;	2038	66	79	SUCCESS
FOXN2	3344	.	GRCh37	2	48602270	48602270	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	16	98	0	ENST00000340553.3:c.984G>C	p.Glu328Asp	p.E328D	ENST00000340553	NM_002158.3	328	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS1838.1	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGGTATA	NONE	.	.	hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF10	.	.	ENSP00000343633	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000340553	Transcript	.	.	ENSG00000170802	5281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.39)	.	FOXN2_HUMAN	FOXN2	HGNC	Q6IS90_HUMAN,C9JTA7_HUMAN	.	UPI0000226321	SNV	FOXN2,missense_variant,p.Glu328Asp,ENST00000340553,;FOXN2,downstream_gene_variant,,ENST00000413569,;	1245	98	102	SUCCESS
VPS54	51542	.	GRCh37	2	64208898	64208898	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	132	0	ENST00000272322.4:c.260C>A	p.Ser87Tyr	p.S87Y	ENST00000272322		87	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS33208.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGATTCT	NONE	.	.	hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965	.	.	ENSP00000272322	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.13)	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,missense_variant,p.Ser87Tyr,ENST00000272322,;VPS54,missense_variant,p.Ser75Tyr,ENST00000409558,;	415	132	94	SUCCESS
MOGS	7841	.	GRCh37	2	74689306	74689306	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1371981055	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	125	0	ENST00000233616.4:c.1610C>T	p.Ala537Val	p.A537V	ENST00000233616	NM_006302.2	537	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS42700.1	1610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGCCTTT	NONE	.	.	hmmpanther:PTHR10412:SF1,hmmpanther:PTHR10412,Pfam_domain:PF03200,Superfamily_domains:SSF48208	.	.	ENSP00000233616	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000233616	Transcript	.	.	ENSG00000115275	24862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(0.36)	.	MOGS_HUMAN	MOGS	HGNC	C9JDQ1_HUMAN,C9J8D4_HUMAN	.	UPI000006FEFF	SNV	MOGS,missense_variant,p.Ala431Val,ENST00000448666,;MOGS,missense_variant,p.Ala537Val,ENST00000233616,;MOGS,missense_variant,p.Ala431Val,ENST00000452063,;MOGS,3_prime_UTR_variant,,ENST00000409065,;WBP1,downstream_gene_variant,,ENST00000393972,;MOGS,downstream_gene_variant,,ENST00000414701,;MOGS,downstream_gene_variant,,ENST00000535045,;INO80B,downstream_gene_variant,,ENST00000409493,;INO80B,downstream_gene_variant,,ENST00000233331,;WBP1,downstream_gene_variant,,ENST00000233615,;WBP1,downstream_gene_variant,,ENST00000428943,;WBP1,downstream_gene_variant,,ENST00000409737,;INO80B,downstream_gene_variant,,ENST00000431187,;INO80B,downstream_gene_variant,,ENST00000409917,;MOGS,downstream_gene_variant,,ENST00000462443,;WBP1,downstream_gene_variant,,ENST00000474185,;WBP1,downstream_gene_variant,,ENST00000466835,;WBP1,downstream_gene_variant,,ENST00000494741,;MOGS,downstream_gene_variant,,ENST00000489655,;WBP1,downstream_gene_variant,,ENST00000464774,;INO80B,downstream_gene_variant,,ENST00000494986,;INO80B,downstream_gene_variant,,ENST00000469849,;WBP1,downstream_gene_variant,,ENST00000470536,;MOGS,non_coding_transcript_exon_variant,,ENST00000462189,;WBP1,downstream_gene_variant,,ENST00000490120,;INO80B,downstream_gene_variant,,ENST00000473618,;INO80B,downstream_gene_variant,,ENST00000455562,;MOGS,downstream_gene_variant,,ENST00000486036,;WBP1,downstream_gene_variant,,ENST00000484744,;WBP1,downstream_gene_variant,,ENST00000466303,;INO80B,downstream_gene_variant,,ENST00000471577,;INO80B,downstream_gene_variant,,ENST00000452361,;INO80B,downstream_gene_variant,,ENST00000441673,;WBP1,downstream_gene_variant,,ENST00000492047,;WBP1,downstream_gene_variant,,ENST00000473467,;	1773	125	108	SUCCESS
IGKV2-30	28919	.	GRCh37	2	89544266	89544266	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	58	151	0	ENST00000468494.1:c.358C>A	p.Pro120Thr	p.P120T	ENST00000468494		120	Cct/Act	0	.	.	.	.	.	T	P/T	IG_V_gene	YES	.	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGCCAGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF134,hmmpanther:PTHR23267	.	.	ENSP00000418138	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000468494	Transcript	.	.	ENSG00000243238	5785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	.	IGKV2-30	HGNC	.	.	UPI0000176EB9	SNV	IGKV2-30,missense_variant,p.Pro120Thr,ENST00000468494,;	388	151	151	SUCCESS
TEKT4	150483	.	GRCh37	2	95539229	95539229	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	92	0	ENST00000295201.4:c.499-36G>T		p.*167*	ENST00000295201	NM_144705.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2005.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGACTGG	NONE	.	.	.	.	.	ENSP00000295201	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295201	Transcript	.	.	ENSG00000163060	31012	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEKT4_HUMAN	TEKT4	HGNC	.	.	UPI00000730A8	SNV	TEKT4,intron_variant,,ENST00000295201,;TEKT4,downstream_gene_variant,,ENST00000427593,;AC097374.2,non_coding_transcript_exon_variant,,ENST00000582835,;AC097374.2,non_coding_transcript_exon_variant,,ENST00000568768,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;AC097374.2,non_coding_transcript_exon_variant,,ENST00000597308,;	.	92	83	SUCCESS
DBR1	51163	.	GRCh37	3	137893695	137893695	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	96	0	ENST00000260803.4:c.-58C>T		p.*20*	ENST00000260803	NM_016216.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33863.1	.	MUTECT|MUSE	.	GCCCAGGACCG	NONE	.	.	.	.	.	ENSP00000260803	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000260803	Transcript	.	.	ENSG00000138231	15594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DBR1_HUMAN	DBR1	HGNC	F5GWV2_HUMAN	.	UPI000006DFC5	SNV	DBR1,5_prime_UTR_variant,,ENST00000260803,;DBR1,5_prime_UTR_variant,,ENST00000505015,;DBR1,non_coding_transcript_exon_variant,,ENST00000463982,;DBR1,5_prime_UTR_variant,,ENST00000477557,;	97	96	86	SUCCESS
SLITRK3	22865	.	GRCh37	3	164907221	164907221	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs140074591	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	43	0	ENST00000241274.3:c.1398C>A	p.Asn466Lys	p.N466K	ENST00000241274	NM_014926.2	466	aaC/aaA	0	.	A:0	.	A:0	.	T	N/K	protein_coding	YES	CCDS3197.1	1398	MUTECT|MUSE	.	ATATCGTTGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	A:0.001	.	ENSP00000420091	A:0	2/2	.	.	.	.	.	.	.	.	rs140074591,COSM296524	2/2	PASS	ENST00000475390	Transcript	.	A:0.0002	ENSG00000121871	23501	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	A:0	deleterious(0)	0,1	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,missense_variant,p.Asn466Lys,ENST00000475390,;SLITRK3,missense_variant,p.Asn466Lys,ENST00000241274,;SLITRK3,downstream_gene_variant,,ENST00000497724,;	1842	43	48	SUCCESS
CLCN2	1181	.	GRCh37	3	184071474	184071474	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	65	0	ENST00000265593.4:c.1831A>T	p.Met611Leu	p.M611L	ENST00000265593	NM_004366.5	611	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS3263.1	1831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCATTCGGC	NONE	.	.	PROSITE_profiles:PS51371,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF64,Gene3D:3.10.580.10,Superfamily_domains:SSF54631	.	.	ENSP00000265593	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000265593	Transcript	.	.	ENSG00000114859	2020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	CLCN2_HUMAN	CLCN2	HGNC	.	.	UPI000013D645	SNV	CLCN2,missense_variant,p.Met567Leu,ENST00000434054,;CLCN2,missense_variant,p.Met594Leu,ENST00000344937,;CLCN2,missense_variant,p.Met611Leu,ENST00000265593,;CLCN2,missense_variant,p.Met611Leu,ENST00000457512,;CLCN2,3_prime_UTR_variant,,ENST00000423355,;EIF2B5,intron_variant,,ENST00000444495,;CLCN2,downstream_gene_variant,,ENST00000475279,;CLCN2,3_prime_UTR_variant,,ENST00000430397,;CLCN2,upstream_gene_variant,,ENST00000491162,;CLCN2,downstream_gene_variant,,ENST00000465231,;CLCN2,downstream_gene_variant,,ENST00000485667,;	2003	65	76	SUCCESS
SMCO1	255798	.	GRCh37	3	196242031	196242031	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1413855719	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	57	0	ENST00000397537.2:c.50G>A	p.Arg17Lys	p.R17K	ENST00000397537	NM_001077657.1	17	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS43192.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCTTTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000380671	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000397537	Transcript	.	.	ENSG00000214097	27407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0.04)	.	SMCO1_HUMAN	SMCO1	HGNC	.	.	UPI000020AF14	SNV	SMCO1,missense_variant,p.Arg17Lys,ENST00000397537,;SMCO1,missense_variant,p.Arg17Lys,ENST00000452776,;	207	57	59	SUCCESS
PIGZ	80235	.	GRCh37	3	196674641	196674641	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	71	249	0	ENST00000412723.1:c.1127T>G	p.Met376Arg	p.M376R	ENST00000412723	NM_025163.3	376	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS3324.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCATGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22760:SF3,hmmpanther:PTHR22760,Pfam_domain:PF03901	.	.	ENSP00000413405	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000412723	Transcript	.	.	ENSG00000119227	30596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	deleterious(0)	.	PIGZ_HUMAN	PIGZ	HGNC	.	.	UPI000013CA2C	SNV	PIGZ,missense_variant,p.Met376Arg,ENST00000412723,;PIGZ,3_prime_UTR_variant,,ENST00000413127,;PIGZ,downstream_gene_variant,,ENST00000443835,;NCBP2-AS2,downstream_gene_variant,,ENST00000602845,;PIGZ,downstream_gene_variant,,ENST00000238138,;	1274	249	226	SUCCESS
ZNF619	285267	.	GRCh37	3	40529349	40529349	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	25	128	1	ENST00000314686.5:c.1300C>T	p.His434Tyr	p.H434Y	ENST00000314686		434	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS46802.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCACACT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF138,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000411132	.	6/6	.	.	.	.	.	.	.	.	COSM3993072,COSM3993071	6/6	PASS	ENST00000447116	Transcript	.	.	ENSG00000177873	26910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.986)	.	deleterious(0)	1,1	.	ZNF619	HGNC	E9PCD9_HUMAN,E5RJF3_HUMAN,B7Z9B3_HUMAN	.	UPI000192B90D	SNV	ZNF619,missense_variant,p.His441Tyr,ENST00000522736,;ZNF619,missense_variant,p.His450Tyr,ENST00000432264,;ZNF619,missense_variant,p.His450Tyr,ENST00000429348,;ZNF619,missense_variant,p.His434Tyr,ENST00000314686,;ZNF619,missense_variant,p.His490Tyr,ENST00000447116,;ZNF619,missense_variant,p.His490Tyr,ENST00000521353,;ZNF619,missense_variant,p.His406Tyr,ENST00000456778,;ZNF619,non_coding_transcript_exon_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;	1775	129	132	SUCCESS
FEZF2	55079	.	GRCh37	3	62358211	62358211	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	49	0	ENST00000283268.3:c.333C>T	p.Gly111=	p.G111=	ENST00000283268	NM_018008.3	111	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2897.1	333	MUTECT|MUSE	.	CCGCCGCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF105,hmmpanther:PTHR23228	.	.	ENSP00000283268	.	2/5	.	.	.	.	.	.	.	.	COSM4119729	2/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,synonymous_variant,p.%3D,ENST00000283268,;FEZF2,synonymous_variant,p.%3D,ENST00000475839,;FEZF2,synonymous_variant,p.%3D,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	628	49	55	SUCCESS
MTMR14	64419	.	GRCh37	3	9739394	9739394	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs1373577450	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	28	48	0	ENST00000296003.4:c.1614-1G>T		p.X538_splice	ENST00000296003	NM_001077525.2	538		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43043.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGATCAG	NONE	.	.	.	.	.	ENSP00000296003	.	.	.	.	.	.	.	.	.	.	COSM731378	.	PASS	ENST00000296003	Transcript	.	.	ENSG00000163719	26190	.	.	HIGH	17/18	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MTMRE_HUMAN	MTMR14	HGNC	.	.	UPI000007423D	SNV	MTMR14,splice_acceptor_variant,,ENST00000296003,;MTMR14,intron_variant,,ENST00000420925,;MTMR14,intron_variant,,ENST00000351233,;MTMR14,intron_variant,,ENST00000353332,;MTMR14,splice_acceptor_variant,,ENST00000414996,;MTMR14,splice_acceptor_variant,,ENST00000447144,;MTMR14,upstream_gene_variant,,ENST00000606184,;	.	48	52	SUCCESS
SLC39A8	64116	.	GRCh37	4	103265762	103265762	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	104	0	ENST00000356736.4:c.58G>T	p.Gly20Ter	p.G20*	ENST00000356736	NM_001135146.1	20	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS3656.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCCTCCGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000378310	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000394833	Transcript	.	.	ENSG00000138821	20862	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39A8_HUMAN	SLC39A8	HGNC	.	.	UPI0000046C4E	SNV	SLC39A8,stop_gained,p.Gly20Ter,ENST00000356736,;SLC39A8,stop_gained,p.Gly20Ter,ENST00000394833,;SLC39A8,stop_gained,p.Gly20Ter,ENST00000424970,;RN7SL728P,downstream_gene_variant,,ENST00000464718,;SLC39A8,intron_variant,,ENST00000512657,;SLC39A8,intron_variant,,ENST00000502903,;SLC39A8,intron_variant,,ENST00000514000,;SLC39A8,intron_variant,,ENST00000510255,;	535	104	116	SUCCESS
ANKRD50	57182	.	GRCh37	4	125592001	125592001	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746316320	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	84	0	ENST00000504087.1:c.2431G>A	p.Asp811Asn	p.D811N	ENST00000504087	NM_020337.2	811	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS34060.1	2431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATCAATAC	NONE	byFrequency	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000425658	.	4/5	.	.	.	.	.	.	.	.	rs746316320	4/5	PASS	ENST00000504087	Transcript	.	.	ENSG00000151458	29223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ANR50_HUMAN	ANKRD50	HGNC	Q8TB46_HUMAN	.	UPI00002377E8	SNV	ANKRD50,missense_variant,p.Asp811Asn,ENST00000504087,;ANKRD50,missense_variant,p.Asp632Asn,ENST00000515641,;	3469	84	90	SUCCESS
INTU	27152	.	GRCh37	4	128625405	128625405	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	68	0	ENST00000335251.6:c.1526G>C	p.Arg509Thr	p.R509T	ENST00000335251	NM_015693.3	509	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS34061.1	1526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAGGCGGC	NONE	.	.	hmmpanther:PTHR21082	.	.	ENSP00000334003	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000335251	Transcript	.	.	ENSG00000164066	29239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	INTU_HUMAN	INTU	HGNC	B3KVS6_HUMAN	.	UPI00001C1E05	SNV	INTU,missense_variant,p.Arg509Thr,ENST00000335251,;INTU,intron_variant,,ENST00000506283,;INTU,non_coding_transcript_exon_variant,,ENST00000512995,;INTU,3_prime_UTR_variant,,ENST00000503952,;INTU,3_prime_UTR_variant,,ENST00000503626,;INTU,upstream_gene_variant,,ENST00000510766,;	1629	68	74	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148787952	148787952	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	34	203	0	ENST00000336498.3:c.687G>A	p.Gln229=	p.Q229=	ENST00000336498	NM_024605.3	229	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS34075.1	687	RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGATCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Superfamily_domains:SSF103657	.	.	ENSP00000336923	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,synonymous_variant,p.%3D,ENST00000336498,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	926	203	209	SUCCESS
GALNT7	51809	.	GRCh37	4	174089948	174089948	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	31	0	ENST00000265000.4:c.-39G>T		p.*13*	ENST00000265000	NM_017423.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3815.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGGCTGC	NONE	.	.	.	.	.	ENSP00000265000	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000265000	Transcript	.	.	ENSG00000109586	4129	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT7_HUMAN	GALNT7	HGNC	Q4W5F7_HUMAN	.	UPI000000DB3C	SNV	GALNT7,5_prime_UTR_variant,,ENST00000265000,;GALNT7,upstream_gene_variant,,ENST00000512285,;RP11-10K16.1,intron_variant,,ENST00000510523,;RP11-10K16.1,intron_variant,,ENST00000500914,;RP11-10K16.1,intron_variant,,ENST00000499322,;	45	31	25	SUCCESS
TRIML1	339976	.	GRCh37	4	189061021	189061021	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	44	131	0	ENST00000332517.3:c.309G>A	p.Lys103=	p.K103=	ENST00000332517	NM_178556.3	103	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3851.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGGCGCT	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291	.	.	ENSP00000327738	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000332517	Transcript	.	.	ENSG00000184108	26698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIML_HUMAN	TRIML1	HGNC	.	.	UPI000006FC8A	SNV	TRIML1,synonymous_variant,p.%3D,ENST00000332517,;RP11-366H4.3,downstream_gene_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000512233,;TRIML1,upstream_gene_variant,,ENST00000507581,;	449	131	131	SUCCESS
NFXL1	152518	.	GRCh37	4	47887522	47887522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	44	125	0	ENST00000329043.3:c.1817C>A	p.Thr606Asn	p.T606N	ENST00000329043		606	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS3478.2	1817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGTCTGC	NONE	.	.	hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1,SMART_domains:SM00438	.	.	ENSP00000422037	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.27)	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,missense_variant,p.Thr606Asn,ENST00000381538,;NFXL1,missense_variant,p.Thr606Asn,ENST00000507489,;NFXL1,missense_variant,p.Thr606Asn,ENST00000329043,;NFXL1,missense_variant,p.Thr606Asn,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;	1994	125	109	SUCCESS
PAICS	10606	.	GRCh37	4	57312864	57312864	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	57	195	0	ENST00000264221.2:c.218T>G	p.Ile73Ser	p.I73S	ENST00000264221	NM_006452.3	73	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS47060.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTATTAAAA	NONE	.	.	hmmpanther:PTHR11609:SF3,hmmpanther:PTHR11609,Gene3D:3.30.200.20,Pfam_domain:PF01259,Superfamily_domains:SSF56104	.	.	ENSP00000382595	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000399688	Transcript	.	.	ENSG00000128050	8587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	.	.	PUR6_HUMAN	PAICS	HGNC	D6RF62_HUMAN	.	UPI0000E9B4A6	SNV	PAICS,missense_variant,p.Ile73Ser,ENST00000264221,;PAICS,missense_variant,p.Ile73Ser,ENST00000512576,;PAICS,missense_variant,p.Ile80Ser,ENST00000399688,;PAICS,missense_variant,p.Ile73Ser,ENST00000505164,;PAICS,5_prime_UTR_variant,,ENST00000514888,;PAICS,upstream_gene_variant,,ENST00000508554,;PAICS,downstream_gene_variant,,ENST00000504188,;PAICS,downstream_gene_variant,,ENST00000510584,;	414	195	222	SUCCESS
ALB	213	.	GRCh37	4	74279271	74279271	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	28	136	1	ENST00000295897.4:c.978G>A	p.Leu326=	p.L326=	ENST00000295897	NM_000477.5	326	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3555.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGCCTTC	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,synonymous_variant,p.%3D,ENST00000509063,;ALB,synonymous_variant,p.%3D,ENST00000511370,;ALB,synonymous_variant,p.%3D,ENST00000415165,;ALB,synonymous_variant,p.%3D,ENST00000295897,;ALB,synonymous_variant,p.%3D,ENST00000503124,;ALB,synonymous_variant,p.%3D,ENST00000401494,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	1067	137	117	SUCCESS
FBN2	2201	.	GRCh37	5	127873412	127873412	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	30	0	ENST00000262464.4:c.-116G>T		p.*39*	ENST00000262464	NM_001999.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34222.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACTCCCT	NONE	.	.	.	.	.	ENSP00000424571	.	7/71	.	.	.	.	.	.	.	.	.	7/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,5_prime_UTR_variant,,ENST00000262464,;FBN2,5_prime_UTR_variant,,ENST00000508053,;FBN2,5_prime_UTR_variant,,ENST00000502468,;FBN2,5_prime_UTR_variant,,ENST00000508989,;SLC27A6,upstream_gene_variant,,ENST00000508645,;FBN2,non_coding_transcript_exon_variant,,ENST00000514742,;	860	30	41	SUCCESS
PCDHA11	56138	.	GRCh37	5	140250310	140250310	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	72	0	ENST00000398640.2:c.1622T>G	p.Val541Gly	p.V541G	ENST00000398640	NM_018902.3	541	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS47284.1	1622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGTGCCGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381636	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398640	Transcript	.	.	ENSG00000249158	8665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.562)	.	deleterious_low_confidence(0.01)	.	PCDAB_HUMAN	PCDHA11	HGNC	.	.	UPI00001273D4	SNV	PCDHA11,missense_variant,p.Val541Gly,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA12,upstream_gene_variant,,ENST00000398631,;	1622	72	83	SUCCESS
RBM27	54439	.	GRCh37	5	145664265	145664265	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	156	258	0	ENST00000265271.5:c.3069T>A	p.Thr1023=	p.T1023=	ENST00000265271	NM_018989.1	1023	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43378.1	3069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACTGAGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14398:SF1,hmmpanther:PTHR14398	.	.	ENSP00000265271	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000265271	Transcript	.	.	ENSG00000091009	29243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM27_HUMAN	RBM27	HGNC	.	.	UPI00001D7F03	SNV	RBM27,synonymous_variant,p.%3D,ENST00000265271,;RBM27,intron_variant,,ENST00000506502,;	3235	258	361	SUCCESS
RASGRF2	5924	.	GRCh37	5	80388721	80388721	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs765832549	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	26	120	0	ENST00000265080.4:c.1494del	p.Phe498LeufsTer6	p.F498Lfs*6	ENST00000265080	NM_006909.2	498	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS4052.1	1492	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTTATTTACA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187,PROSITE_profiles:PS50003	.	.	ENSP00000265080	.	10/27	.	.	.	.	.	.	.	.	rs765832549	10/27	PASS	ENST00000265080	Transcript	.	.	ENSG00000113319	9876	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGRF2_HUMAN	RASGRF2	HGNC	Q68DX5_HUMAN	.	UPI0000047ABF	deletion	RASGRF2,frameshift_variant,p.Phe498LeufsTer6,ENST00000265080,;RASGRF2,upstream_gene_variant,,ENST00000512186,;RASGRF2,downstream_gene_variant,,ENST00000502677,;RASGRF2,frameshift_variant,p.Phe498LeufsTer6,ENST00000503795,;	1559	120	154	SUCCESS
ZBTB2	57621	.	GRCh37	6	151687782	151687782	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773940061	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	37	124	0	ENST00000325144.4:c.419A>G	p.His140Arg	p.H140R	ENST00000325144	NM_020861.1	140	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS5231.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGATGATCT	NONE	.	.	hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0	.	.	ENSP00000323183	.	3/3	.	.	.	.	.	.	.	.	rs773940061	3/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	tolerated(0.55)	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,missense_variant,p.His140Arg,ENST00000325144,;	560	124	122	SUCCESS
KIF13A	63971	.	GRCh37	6	17837188	17837188	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	99	0	ENST00000259711.6:c.1076A>T	p.Asn359Ile	p.N359I	ENST00000259711	NM_022113.5	359	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS47381.1	1076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCATTCACA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	.	.	ENSP00000259711	.	11/39	.	.	.	.	.	.	.	.	.	11/39	PASS	ENST00000259711	Transcript	.	.	ENSG00000137177	14566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KI13A_HUMAN	KIF13A	HGNC	.	.	UPI0000E20DA3	SNV	KIF13A,missense_variant,p.Asn359Ile,ENST00000378814,;KIF13A,missense_variant,p.Asn359Ile,ENST00000378826,;KIF13A,missense_variant,p.Asn359Ile,ENST00000259711,;KIF13A,missense_variant,p.Asn359Ile,ENST00000378816,;KIF13A,missense_variant,p.Asn359Ile,ENST00000378843,;	1182	99	110	SUCCESS
HLA-DQA1	3117	.	GRCh37	6	32610000	32610000	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	104	240	0	ENST00000343139.5:c.583G>A	p.Gly195Ser	p.G195S	ENST00000343139	NM_002122.3	195	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS4752.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGGCCTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR19944:SF54,hmmpanther:PTHR19944	.	.	ENSP00000339398	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000343139	Transcript	.	.	ENSG00000196735	4942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	DQA1_HUMAN	HLA-DQA1	HGNC	Q67AI2_HUMAN,Q67AI1_HUMAN,Q67AI0_HUMAN,Q67AH9_HUMAN,Q67AH8_HUMAN,Q67AH7_HUMAN,Q67AH6_HUMAN,Q67AC4_HUMAN,Q67AC3_HUMAN,Q67AC2_HUMAN,Q67AC1_HUMAN,Q67AC0_HUMAN,Q67AB9_HUMAN,Q67AB8_HUMAN,Q67AB7_HUMAN,Q67AB6_HUMAN,Q67AB5_HUMAN,Q67AA7_HUMAN,Q67AA6_HUMAN,Q67AA5_HUMAN,Q67A93_HUMAN,Q67A92_HUMAN,Q30066_HUMAN,Q30065_HUMAN,O19703_HUMAN,F6UB03_HUMAN	.	UPI0000140E19	SNV	HLA-DQA1,missense_variant,p.Gly195Ser,ENST00000374949,;HLA-DQA1,missense_variant,p.Gly195Ser,ENST00000496318,;HLA-DQA1,missense_variant,p.Gly195Ser,ENST00000395363,;HLA-DQA1,missense_variant,p.Gly195Ser,ENST00000343139,;HLA-DQA1,downstream_gene_variant,,ENST00000422863,;HLA-DQA1,3_prime_UTR_variant,,ENST00000482745,;HLA-DQA1,non_coding_transcript_exon_variant,,ENST00000460633,;	685	240	217	SUCCESS
USP49	25862	.	GRCh37	6	41773613	41773613	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	89	0	ENST00000373009.3:c.1109C>T	p.Ser370Phe	p.S370F	ENST00000373009		370	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS4861.1	1109	MUTECT|MUSE	.	TCCCGGACCAC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF422,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000362097	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000373006	Transcript	.	.	ENSG00000164663	20078	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	UBP49_HUMAN	USP49	HGNC	A6PVU2_HUMAN	.	UPI00000738AB	SNV	USP49,missense_variant,p.Ser370Phe,ENST00000373009,;USP49,missense_variant,p.Ser370Phe,ENST00000373006,;USP49,missense_variant,p.Ser370Phe,ENST00000394253,;USP49,missense_variant,p.Ser370Phe,ENST00000297229,;USP49,missense_variant,p.Ser370Phe,ENST00000373010,;USP49,downstream_gene_variant,,ENST00000437061,;USP49,downstream_gene_variant,,ENST00000423567,;USP49,upstream_gene_variant,,ENST00000448078,;	1331	89	96	SUCCESS
USP49	25862	.	GRCh37	6	41774615	41774615	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	102	0	ENST00000373009.3:c.107G>A	p.Trp36Ter	p.W36*	ENST00000373009		36	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS4861.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCACACG	NONE	.	.	PROSITE_profiles:PS50271,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF422,Pfam_domain:PF02148,Gene3D:3.30.40.10,SMART_domains:SM00290,Superfamily_domains:SSF57850	.	.	ENSP00000362097	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000373006	Transcript	.	.	ENSG00000164663	20078	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP49_HUMAN	USP49	HGNC	A6PVU2_HUMAN	.	UPI00000738AB	SNV	USP49,stop_gained,p.Trp36Ter,ENST00000373009,;USP49,stop_gained,p.Trp36Ter,ENST00000373006,;USP49,stop_gained,p.Trp36Ter,ENST00000394253,;USP49,stop_gained,p.Trp36Ter,ENST00000297229,;USP49,stop_gained,p.Trp36Ter,ENST00000437061,;USP49,stop_gained,p.Trp36Ter,ENST00000373010,;USP49,downstream_gene_variant,,ENST00000423567,;USP49,upstream_gene_variant,,ENST00000448078,;	329	102	87	SUCCESS
TTBK1	84630	.	GRCh37	6	43222834	43222834	+	synonymous_variant	Silent	SNP	C	C	T	rs748186107	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	77	0	ENST00000259750.4:c.624C>T	p.Val208=	p.V208=	ENST00000259750	NM_032538.1	208	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS34455.1	624	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCAATGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000259750	.	7/15	.	.	.	.	.	.	.	.	rs748186107	7/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,synonymous_variant,p.%3D,ENST00000304139,;TTBK1,synonymous_variant,p.%3D,ENST00000259750,;	707	77	96	SUCCESS
AARS2	57505	.	GRCh37	6	44272421	44272421	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	60	144	0	ENST00000244571.4:c.1713G>A	p.Gln571=	p.Q571=	ENST00000244571	NM_020745.3	571	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS34464.1	1713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCCTGGCC	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777,Pfam_domain:PF01411,TIGRFAM_domain:TIGR00344,Superfamily_domains:SSF50447	.	.	ENSP00000244571	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000244571	Transcript	.	.	ENSG00000124608	21022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYAM_HUMAN	AARS2	HGNC	.	.	UPI00001C1E5A	SNV	AARS2,synonymous_variant,p.%3D,ENST00000244571,;TMEM151B,intron_variant,,ENST00000438774,;AARS2,upstream_gene_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	1716	144	176	SUCCESS
THSD7A	221981	.	GRCh37	7	11416199	11416199	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	rs1245747173	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	32	0	ENST00000423059.4:c.4887T>A		p.X1629_splice	ENST00000423059	NM_015204.2	1629	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47543.1	4887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAGCTAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8	.	.	ENSP00000406482	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000423059	Transcript	.	.	ENSG00000005108	22207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THS7A_HUMAN	THSD7A	HGNC	.	.	UPI00006C0B74	SNV	THSD7A,synonymous_variant,p.%3D,ENST00000423059,;AC004538.3,intron_variant,,ENST00000445839,;AC004538.3,intron_variant,,ENST00000599875,;AC004538.3,intron_variant,,ENST00000421121,;AC004538.3,intron_variant,,ENST00000428967,;AC004538.3,intron_variant,,ENST00000428533,;AC004538.3,upstream_gene_variant,,ENST00000595972,;THSD7A,splice_region_variant,,ENST00000408005,;	5139	32	66	SUCCESS
FLNC	2318	.	GRCh37	7	128470904	128470904	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	49	127	1	ENST00000325888.8:c.213C>T	p.Ile71=	p.I71=	ENST00000325888	NM_001458.4	71	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS43644.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCGCGCT	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Gene3D:1.10.418.10,Pfam_domain:PF00307,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50021	.	.	ENSP00000327145	.	1/48	.	.	.	.	.	.	.	.	COSM3778090	1/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;	474	128	149	SUCCESS
KCP	375616	.	GRCh37	7	128520071	128520071	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1374198533	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	63	0	ENST00000476647.2:n.3871G>A		p.*1291*	ENST00000476647				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCATGCA	NONE	.	.	.	.	.	.	.	35/40	.	.	.	.	.	.	.	.	.	35/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000492679,;KCP,upstream_gene_variant,,ENST00000460528,;	3871	63	79	SUCCESS
TRPV5	56302	.	GRCh37	7	142625840	142625840	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	50	161	1	ENST00000265310.1:c.708C>A	p.Pro236=	p.P236=	ENST00000265310	NM_019841.4	236	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5875.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTGGGCAC	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000265310	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,synonymous_variant,p.%3D,ENST00000442623,;TRPV5,synonymous_variant,p.%3D,ENST00000439304,;TRPV5,synonymous_variant,p.%3D,ENST00000265310,;	1057	162	154	SUCCESS
ZNF467	168544	.	GRCh37	7	149462747	149462747	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs560346109	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	5	99	0	ENST00000302017.3:c.844C>T	p.Arg282Cys	p.R282C	ENST00000302017	NM_207336.1	282	Cgc/Tgc	0	.	A:0	.	A:0.0014	.	A	R/C	protein_coding	YES	CCDS5899.1	844	MUTECT|MUSE	.	CTTGCGAAAGC	BUFFER|p.T285T|c.855G>A|3	by1000G	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF14,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	A:0	.	ENSP00000304769	A:0	5/5	.	.	.	.	.	.	.	.	rs560346109,COSM1087171	5/5	PASS	ENST00000302017	Transcript	.	A:0.0002	ENSG00000181444	23154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.983)	A:0	deleterious(0.02)	0,1	ZN467_HUMAN	ZNF467	HGNC	.	.	UPI0000160B41	SNV	ZNF467,missense_variant,p.Arg282Cys,ENST00000302017,;ZNF467,intron_variant,,ENST00000484747,;	1258	99	119	SUCCESS
CCT6A	908	.	GRCh37	7	56127966	56127966	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	54	138	0	ENST00000275603.4:c.1070A>G	p.Glu357Gly	p.E357G	ENST00000275603	NM_001762.3	357	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS5523.1	1070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGAAGAGA	NONE	.	.	Superfamily_domains:SSF52029,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02347,Pfam_domain:PF00118,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353	.	.	ENSP00000275603	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000275603	Transcript	.	.	ENSG00000146731	1620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.508)	.	deleterious(0)	.	TCPZ_HUMAN	CCT6A	HGNC	.	.	UPI0000136B11	SNV	CCT6A,missense_variant,p.Glu326Gly,ENST00000540286,;CCT6A,missense_variant,p.Glu357Gly,ENST00000275603,;CCT6A,missense_variant,p.Glu312Gly,ENST00000335503,;SUMF2,upstream_gene_variant,,ENST00000275607,;SUMF2,upstream_gene_variant,,ENST00000395435,;SUMF2,upstream_gene_variant,,ENST00000437307,;SUMF2,upstream_gene_variant,,ENST00000413952,;SUMF2,upstream_gene_variant,,ENST00000451338,;SUMF2,upstream_gene_variant,,ENST00000342190,;SUMF2,upstream_gene_variant,,ENST00000395436,;SUMF2,upstream_gene_variant,,ENST00000413756,;SUMF2,upstream_gene_variant,,ENST00000434526,;SNORA22,downstream_gene_variant,,ENST00000383876,;SNORA15,upstream_gene_variant,,ENST00000384439,;CCT6A,upstream_gene_variant,,ENST00000462133,;CCT6A,non_coding_transcript_exon_variant,,ENST00000492618,;CCT6A,non_coding_transcript_exon_variant,,ENST00000466572,;SUMF2,upstream_gene_variant,,ENST00000452216,;CCT6A,upstream_gene_variant,,ENST00000466479,;SUMF2,upstream_gene_variant,,ENST00000483327,;SUMF2,upstream_gene_variant,,ENST00000447501,;CCT6A,downstream_gene_variant,,ENST00000493855,;CCT6A,upstream_gene_variant,,ENST00000494736,;SUMF2,upstream_gene_variant,,ENST00000423763,;CCT6A,downstream_gene_variant,,ENST00000482776,;SUMF2,upstream_gene_variant,,ENST00000438133,;SUMF2,upstream_gene_variant,,ENST00000529457,;SUMF2,upstream_gene_variant,,ENST00000436782,;SUMF2,upstream_gene_variant,,ENST00000498777,;	1289	138	131	SUCCESS
WBSCR22	0	.	GRCh37	7	73097969	73097969	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	121	0	ENST00000423497.1:c.14G>C	p.Gly5Ala	p.G5A	ENST00000423497	NM_001202560.2	5	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS56490.1	14	MUTECT|MUSE	.	CCGCGGCCGGC	NONE	.	.	hmmpanther:PTHR12734:SF0,hmmpanther:PTHR12734	.	.	ENSP00000401191	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000423497	Transcript	.	.	ENSG00000071462	16405	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.358)	.	tolerated(0.3)	.	.	WBSCR22	HGNC	C9K060_HUMAN	.	UPI0000423E27	SNV	WBSCR22,missense_variant,p.Gly5Ala,ENST00000265758,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000423497,;WBSCR22,5_prime_UTR_variant,,ENST00000423166,;DNAJC30,upstream_gene_variant,,ENST00000395176,;WBSCR22,intron_variant,,ENST00000464615,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000421304,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000430270,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000441822,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000436944,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000428163,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000421744,;WBSCR22,missense_variant,p.Gly5Ala,ENST00000432522,;WBSCR22,non_coding_transcript_exon_variant,,ENST00000487006,;WBSCR22,non_coding_transcript_exon_variant,,ENST00000496153,;WBSCR22,non_coding_transcript_exon_variant,,ENST00000463307,;WBSCR22,non_coding_transcript_exon_variant,,ENST00000478670,;WBSCR22,upstream_gene_variant,,ENST00000430446,;	14	121	105	SUCCESS
TMEM130	222865	.	GRCh37	7	98445808	98445808	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	90	281	0	ENST00000416379.2:c.1179C>T	p.Val393=	p.V393=	ENST00000416379		393	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47650.1	1179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGACCCC	NONE	.	.	hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF10	.	.	ENSP00000413163	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000416379	Transcript	.	.	ENSG00000166448	25429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM130_HUMAN	TMEM130	HGNC	C9JQV5_HUMAN	.	UPI000006EF2E	SNV	TMEM130,synonymous_variant,p.%3D,ENST00000345589,;TMEM130,synonymous_variant,p.%3D,ENST00000546258,;TMEM130,synonymous_variant,p.%3D,ENST00000416379,;TMEM130,synonymous_variant,p.%3D,ENST00000450876,;TMEM130,synonymous_variant,p.%3D,ENST00000339375,;TMEM130,downstream_gene_variant,,ENST00000461092,;TMEM130,upstream_gene_variant,,ENST00000474857,;	1184	281	248	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110431367	110431367	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199909220	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	39	117	0	ENST00000378402.5:c.2402C>T	p.Thr801Met	p.T801M	ENST00000378402	NM_177531.4	801	aCg/aTg	0	T:0	T:0	.	T:0.0014	.	T	T/M	protein_coding	YES	CCDS47911.1	2402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACGAAAT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0002	ENSP00000367655	T:0.001	22/78	.	.	.	.	.	.	.	.	rs199909220	22/78	PASS	ENST00000378402	Transcript	.	T:0.0006	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.466)	T:0.001	deleterious(0.01)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Thr801Met,ENST00000378402,;	2506	117	131	SUCCESS
CSMD3	114788	.	GRCh37	8	114449126	114449126	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs192362623	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	40	0	ENST00000297405.5:c.-43C>T		p.*15*	ENST00000297405	NM_198123.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCAGTGGAG	NONE	by1000G	.	.	.	.	ENSP00000297405	.	1/71	.	.	.	.	.	.	.	.	rs192362623	1/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,5_prime_UTR_variant,,ENST00000352409,;CSMD3,5_prime_UTR_variant,,ENST00000297405,;CSMD3,upstream_gene_variant,,ENST00000455883,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;CSMD3,upstream_gene_variant,,ENST00000493303,;	203	40	39	SUCCESS
TRPS1	7227	.	GRCh37	8	116616728	116616728	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1314031779	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	86	0	ENST00000220888.5:c.1429A>G	p.Arg477Gly	p.R477G	ENST00000220888		477	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6318.2	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTGGAAA	NONE	.	.	hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	.	.	ENSP00000379065	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,missense_variant,p.Arg481Gly,ENST00000520276,;TRPS1,missense_variant,p.Arg477Gly,ENST00000220888,;TRPS1,missense_variant,p.Arg490Gly,ENST00000395715,;TRPS1,missense_variant,p.Arg477Gly,ENST00000519674,;TRPS1,intron_variant,,ENST00000517323,;TRPS1,intron_variant,,ENST00000519076,;	2046	86	79	SUCCESS
ST18	9705	.	GRCh37	8	53074116	53074116	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	65	179	0	ENST00000276480.7:c.1413G>A	p.Val471=	p.V471=	ENST00000276480	NM_014682.2	471	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6149.1	1413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCACCAA	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	.	.	ENSP00000276480	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,synonymous_variant,p.%3D,ENST00000517580,;ST18,synonymous_variant,p.%3D,ENST00000276480,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;	2097	179	184	SUCCESS
CPA6	57094	.	GRCh37	8	68658576	68658576	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	19	0	ENST00000297770.4:c.-212A>T		p.*71*	ENST00000297770	NM_020361.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTTGGGA	NONE	.	.	.	.	.	ENSP00000297770	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,5_prime_UTR_variant,,ENST00000297769,;CPA6,5_prime_UTR_variant,,ENST00000518549,;CPA6,5_prime_UTR_variant,,ENST00000297770,;CPA6,5_prime_UTR_variant,,ENST00000479862,;	5	19	33	SUCCESS
KCNB2	9312	.	GRCh37	8	73848416	73848416	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	66	132	0	ENST00000523207.1:c.826C>A	p.Pro276Thr	p.P276T	ENST00000523207	NM_004770.2	276	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS6209.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCCGTAC	NONE	.	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000430846	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523207	Transcript	.	.	ENSG00000182674	6232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNB2_HUMAN	KCNB2	HGNC	.	.	UPI000012DC85	SNV	KCNB2,missense_variant,p.Pro276Thr,ENST00000523207,;	1414	132	163	SUCCESS
BNC2	54796	.	GRCh37	9	16436852	16436852	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	37	77	0	ENST00000380672.4:c.1340G>A	p.Gly447Glu	p.G447E	ENST00000380672	NM_017637.5	447	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS6482.2	1340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCCACAT	NONE	.	.	SMART_domains:SM00355,Pfam_domain:PF12874,PROSITE_patterns:PS00028,hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2,PROSITE_profiles:PS50157	.	.	ENSP00000370047	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000380672	Transcript	.	.	ENSG00000173068	30988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.326)	.	tolerated(1)	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,missense_variant,p.Gly352Glu,ENST00000545497,;BNC2,missense_variant,p.Gly380Glu,ENST00000380667,;BNC2,missense_variant,p.Gly447Glu,ENST00000380672,;BNC2,missense_variant,p.Gly447Glu,ENST00000380666,;BNC2,missense_variant,p.Gly404Glu,ENST00000418777,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,upstream_gene_variant,,ENST00000411752,;BNC2,missense_variant,p.Gly447Glu,ENST00000484726,;	1398	77	67	SUCCESS
MTAP	4507	.	GRCh37	9	21837985	21837985	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	100	0	ENST00000380172.4:c.426G>C	p.Glu142Asp	p.E142D	ENST00000380172	NM_002451.3	142	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS6509.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGCCGTT	NONE	.	.	HAMAP:MF_01963,hmmpanther:PTHR11904:SF1,hmmpanther:PTHR11904,Gene3D:3.40.50.1580,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01694,Superfamily_domains:SSF53167	.	.	ENSP00000369519	.	5/8	.	.	.	.	.	.	.	.	COSM1107886	5/8	PASS	ENST00000380172	Transcript	.	.	ENSG00000099810	7413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.006)	.	tolerated(0.28)	1	MTAP_HUMAN	MTAP	HGNC	.	.	UPI0000110BBE	SNV	MTAP,missense_variant,p.Glu142Asp,ENST00000580900,;MTAP,missense_variant,p.Glu142Asp,ENST00000380172,;MTAP,missense_variant,p.Glu159Asp,ENST00000460874,;MTAP,downstream_gene_variant,,ENST00000427788,;MTAP,missense_variant,p.Glu142Asp,ENST00000580718,;MTAP,3_prime_UTR_variant,,ENST00000419385,;RP11-145E5.5,intron_variant,,ENST00000404796,;	632	100	61	SUCCESS
VCP	7415	.	GRCh37	9	35072447	35072447	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	83	242	0	ENST00000358901.6:c.-97C>T		p.*33*	ENST00000358901	NM_007126.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6573.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGGCGGT	NONE	.	.	.	.	.	ENSP00000351777	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000358901	Transcript	.	.	ENSG00000165280	12666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERA_HUMAN	VCP	HGNC	Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN	.	UPI000005FB2E	SNV	VCP,5_prime_UTR_variant,,ENST00000448530,;VCP,5_prime_UTR_variant,,ENST00000358901,;FANCG,downstream_gene_variant,,ENST00000448890,;VCP,upstream_gene_variant,,ENST00000417448,;FANCG,downstream_gene_variant,,ENST00000378643,;FANCG,downstream_gene_variant,,ENST00000476212,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;FANCG,downstream_gene_variant,,ENST00000425676,;FANCG,downstream_gene_variant,,ENST00000474894,;FANCG,downstream_gene_variant,,ENST00000481254,;	800	242	203	SUCCESS
PTPRD	5789	.	GRCh37	9	8500869	8500869	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	58	181	0	ENST00000356435.5:c.2013A>C	p.Lys671Asn	p.K671N	ENST00000356435		671	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS43786.1	2013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTATTTGGT	NONE	.	.	Superfamily_domains:SSF49265,Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50853	.	.	ENSP00000370593	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.2)	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,missense_variant,p.Lys658Asn,ENST00000358503,;PTPRD,missense_variant,p.Lys658Asn,ENST00000360074,;PTPRD,missense_variant,p.Lys671Asn,ENST00000381196,;PTPRD,missense_variant,p.Lys671Asn,ENST00000356435,;PTPRD,missense_variant,p.Lys671Asn,ENST00000540109,;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000486161,;PTPRD,intron_variant,,ENST00000397606,;PTPRD,intron_variant,,ENST00000355233,;PTPRD,intron_variant,,ENST00000397611,;PTPRD,intron_variant,,ENST00000537002,;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;	2557	181	117	SUCCESS
SLC28A3	64078	.	GRCh37	9	86894924	86894924	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	36	0	ENST00000376238.4:c.1794G>A	p.Gly598=	p.G598=	ENST00000376238	NM_001199633.1	598	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6670.1	1794	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTCCCCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590,Pfam_domain:PF07662,TIGRFAM_domain:TIGR00804	.	.	ENSP00000365413	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000376238	Transcript	.	.	ENSG00000197506	16484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S28A3_HUMAN	SLC28A3	HGNC	F5GYE3_HUMAN	.	UPI000006F5A6	SNV	SLC28A3,synonymous_variant,p.%3D,ENST00000376238,;SLC28A3,synonymous_variant,p.%3D,ENST00000537648,;RP11-380F14.2,intron_variant,,ENST00000419815,;	1844	36	36	SUCCESS
MAGEA9B	728269	.	GRCh37	X	148664871	148664871	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs782208784	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	47	193	1	ENST00000243314.5:c.-36C>T		p.*12*	ENST00000243314	NM_001080790.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35423.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CGTGGGCAGGA	NONE	.	.	.	.	.	ENSP00000243314	.	4/4	.	.	.	.	.	.	.	.	rs782208784	4/4	PASS	ENST00000243314	Transcript	.	.	ENSG00000123584	31909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGA9_HUMAN	MAGEA9B	HGNC	E5RJI2_HUMAN,E5RJ34_HUMAN,E5RH97_HUMAN,E5RFS8_HUMAN	.	UPI000012EB2B	SNV	MAGEA9B,5_prime_UTR_variant,,ENST00000243314,;	252	194	159	SUCCESS
MAGEA8	4107	.	GRCh37	X	149013107	149013107	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	49	0	ENST00000286482.1:c.61G>A	p.Glu21Lys	p.E21K	ENST00000286482	NM_005364.4	21	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14692.1	61	MUTECT|MUSE	.	AAGGAGAGGCA	NONE	.	.	Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF65	.	.	ENSP00000438293	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000535454	Transcript	.	.	ENSG00000156009	6806	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.692)	.	tolerated(0.12)	.	MAGA8_HUMAN	MAGEA8	HGNC	.	.	UPI0000071C79	SNV	MAGEA8,missense_variant,p.Glu21Lys,ENST00000542674,;MAGEA8,missense_variant,p.Glu21Lys,ENST00000535454,;MAGEA8,missense_variant,p.Glu21Lys,ENST00000286482,;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,;MAGEA8,non_coding_transcript_exon_variant,,ENST00000493910,;MAGEA8,non_coding_transcript_exon_variant,,ENST00000345830,;	610	49	44	SUCCESS
ATRNL1	26033	.	GRCh37	10	117486766	117486766	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	20	0	ENST00000355044.3:c.3804T>C	p.Leu1268=	p.L1268=	ENST00000355044	NM_207303.2	1268	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS7592.1	3804	RADIA|MUTECT|MUSE	.	CTGCTTCGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,synonymous_variant,p.%3D,ENST00000423111,;ATRNL1,synonymous_variant,p.%3D,ENST00000355044,;ATRNL1,synonymous_variant,p.%3D,ENST00000303745,;	3930	20	36	SUCCESS
DMBT1	1755	.	GRCh37	10	124335946	124335946	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	64	0	ENST00000338354.3:c.315G>A	p.Val105=	p.V105=	ENST00000338354		105	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44490.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGAATGG	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	7/53	.	.	.	.	.	.	.	.	.	7/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,synonymous_variant,p.%3D,ENST00000368956,;DMBT1,synonymous_variant,p.%3D,ENST00000359586,;DMBT1,synonymous_variant,p.%3D,ENST00000330163,;DMBT1,synonymous_variant,p.%3D,ENST00000344338,;DMBT1,synonymous_variant,p.%3D,ENST00000368955,;DMBT1,synonymous_variant,p.%3D,ENST00000368909,;DMBT1,synonymous_variant,p.%3D,ENST00000338354,;	421	64	107	SUCCESS
DOCK1	1793	.	GRCh37	10	129183066	129183066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	10	152	0	ENST00000280333.6:c.3757G>A	p.Val1253Met	p.V1253M	ENST00000280333	NM_001380.3	1253	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	.	3757	MUTECT|MUSE	.	AGGATGTGTGT	BUFFER|p.S1250L|c.3749C>T|3	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79	.	.	ENSP00000280333	.	38/52	.	.	.	.	.	.	.	.	.	38/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.861)	.	tolerated(0.17)	.	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Val1253Met,ENST00000280333,;	3866	152	179	SUCCESS
DPYSL4	10570	.	GRCh37	10	134015481	134015481	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	8	77	0	ENST00000338492.4:c.1142T>G	p.Val381Gly	p.V381G	ENST00000338492	NM_006426.2	381	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS7665.1	1142	MUTECT|MUSE	.	GTTCGTCGCGG	BUFFER|p.A382V|c.1145C>T|3	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51338,Superfamily_domains:SSF51556	.	.	ENSP00000339850	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000338492	Transcript	.	.	ENSG00000151640	3016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.161)	.	deleterious(0.01)	.	DPYL4_HUMAN	DPYSL4	HGNC	D3DRG7_HUMAN	.	UPI000013DC70	SNV	DPYSL4,missense_variant,p.Val281Gly,ENST00000368627,;DPYSL4,missense_variant,p.Val281Gly,ENST00000368629,;DPYSL4,missense_variant,p.Val381Gly,ENST00000338492,;DPYSL4,upstream_gene_variant,,ENST00000471544,;	1306	77	106	SUCCESS
CDON	50937	.	GRCh37	11	125885319	125885319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	43	156	0	ENST00000392693.3:c.1015C>T	p.Pro339Ser	p.P339S	ENST00000392693	NM_001243597.1	339	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS58192.1	1015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGTTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000376458	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000392693	Transcript	.	.	ENSG00000064309	17104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0.01)	.	CDON_HUMAN	CDON	HGNC	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN	.	UPI0000E0013A	SNV	CDON,missense_variant,p.Pro315Ser,ENST00000534661,;CDON,missense_variant,p.Pro339Ser,ENST00000263577,;CDON,missense_variant,p.Pro339Ser,ENST00000392693,;CDON,downstream_gene_variant,,ENST00000527967,;CDON,downstream_gene_variant,,ENST00000531586,;CDON,missense_variant,p.Pro174Ser,ENST00000531830,;CDON,non_coding_transcript_exon_variant,,ENST00000525625,;	1143	157	243	SUCCESS
NUP98	4928	.	GRCh37	11	3735109	3735109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	15	102	1	ENST00000359171.4:c.2516C>T	p.Ser839Leu	p.S839L	ENST00000359171		839	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS7746.1	2516	RADIA|MUTECT|VARSCANS	.	TCCTTGAAACT	NONE	.	.	PROSITE_profiles:PS51434,hmmpanther:PTHR23198,hmmpanther:PTHR23198:SF0,Pfam_domain:PF04096,Gene3D:2q5xA00,Superfamily_domains:0040175	.	.	ENSP00000316032	.	19/33	.	.	.	.	.	.	.	.	.	19/33	PASS	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.069)	.	deleterious(0.02)	.	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	NUP98,missense_variant,p.Ser839Leu,ENST00000324932,;NUP98,missense_variant,p.Ser839Leu,ENST00000359171,;NUP98,missense_variant,p.Ser856Leu,ENST00000397007,;NUP98,missense_variant,p.Ser839Leu,ENST00000355260,;NUP98,missense_variant,p.Ser839Leu,ENST00000397004,;RNU6-1143P,downstream_gene_variant,,ENST00000516125,;	2937	103	123	SUCCESS
AHNAK	79026	.	GRCh37	11	62286109	62286109	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	12	96	0	ENST00000378024.4:c.15780del	p.Ser5261LeufsTer6	p.S5261Lfs*6	ENST00000378024	NM_001620.2	5260	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS31584.1	15780	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGAGAGGGTAG	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	deletion	AHNAK,frameshift_variant,p.Ser5261LeufsTer6,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	16055	96	87	SUCCESS
GDPD5	81544	.	GRCh37	11	75150967	75150967	+	synonymous_variant	Silent	SNP	G	G	A	rs1161929688	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	26	97	0	ENST00000336898.3:c.1513C>T	p.Leu505=	p.L505=	ENST00000336898	NM_030792.6	505	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8238.1	1513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGTCGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23344:SF6,hmmpanther:PTHR23344	.	.	ENSP00000337972	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000336898	Transcript	.	.	ENSG00000158555	28804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDPD5_HUMAN	GDPD5	HGNC	E9PJU5_HUMAN	.	UPI000013FB97	SNV	GDPD5,synonymous_variant,p.%3D,ENST00000336898,;GDPD5,synonymous_variant,p.%3D,ENST00000533805,;GDPD5,synonymous_variant,p.%3D,ENST00000526177,;GDPD5,synonymous_variant,p.%3D,ENST00000533784,;GDPD5,synonymous_variant,p.%3D,ENST00000376282,;GDPD5,synonymous_variant,p.%3D,ENST00000529721,;GDPD5,synonymous_variant,p.%3D,ENST00000534322,;GDPD5,3_prime_UTR_variant,,ENST00000443276,;GDPD5,downstream_gene_variant,,ENST00000533911,;GDPD5,downstream_gene_variant,,ENST00000527322,;GDPD5,3_prime_UTR_variant,,ENST00000527820,;GDPD5,downstream_gene_variant,,ENST00000531561,;GDPD5,upstream_gene_variant,,ENST00000531759,;	2351	97	144	SUCCESS
THRSP	7069	.	GRCh37	11	77774945	77774945	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	14	81	0	ENST00000281030.2:c.18G>A	p.Lys6=	p.K6=	ENST00000281030	NM_003251.3	6	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS8256.1	18	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGCGTTA	NONE	.	.	hmmpanther:PTHR14315:SF13,hmmpanther:PTHR14315,Pfam_domain:PF07084	.	.	ENSP00000281030	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000281030	Transcript	.	.	ENSG00000151365	11800	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THRSP_HUMAN	THRSP	HGNC	.	.	UPI00000015FF	SNV	THRSP,synonymous_variant,p.%3D,ENST00000281030,;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2-KCTD14,intron_variant,,ENST00000530054,;NDUFC2,downstream_gene_variant,,ENST00000281031,;NDUFC2,downstream_gene_variant,,ENST00000527806,;	39	81	100	SUCCESS
THRSP	7069	.	GRCh37	11	77774946	77774946	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1289448165	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	80	0	ENST00000281030.2:c.19C>G	p.Arg7Gly	p.R7G	ENST00000281030	NM_003251.3	7	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8256.1	19	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCGTTAC	NONE	.	.	hmmpanther:PTHR14315:SF13,hmmpanther:PTHR14315,Pfam_domain:PF07084	.	.	ENSP00000281030	.	1/2	.	.	.	.	.	.	.	.	COSM51306	1/2	PASS	ENST00000281030	Transcript	.	.	ENSG00000151365	11800	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.41)	.	tolerated(0.3)	1	THRSP_HUMAN	THRSP	HGNC	.	.	UPI00000015FF	SNV	THRSP,missense_variant,p.Arg7Gly,ENST00000281030,;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2-KCTD14,intron_variant,,ENST00000530054,;NDUFC2,downstream_gene_variant,,ENST00000281031,;NDUFC2,downstream_gene_variant,,ENST00000527806,;	40	80	100	SUCCESS
HECTD4	283450	.	GRCh37	12	112708155	112708155	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747861938	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	8	138	0	ENST00000550722.1:c.1619C>T	p.Thr540Ile	p.T540I	ENST00000550722	NM_001109662.3	540	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	.	1619	MUTECT|MUSE	.	CACTTGTGATT	NONE	.	.	.	.	.	ENSP00000449784	.	12/76	.	.	.	.	.	.	.	.	rs747861938	12/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.043)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Thr252Ile,ENST00000430131,;HECTD4,missense_variant,p.Thr540Ile,ENST00000550722,;HECTD4,missense_variant,p.Thr502Ile,ENST00000377560,;HECTD4,intron_variant,,ENST00000550724,;RN7SKP71,downstream_gene_variant,,ENST00000364558,;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;	2015	139	217	SUCCESS
ITPR2	3709	.	GRCh37	12	26816709	26816709	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	49	0	ENST00000381340.3:c.1622T>G	p.Leu541Arg	p.L541R	ENST00000381340	NM_002223.2	541	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS41764.1	1622	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCAGATCT	NONE	.	.	hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000370744	.	15/57	.	.	.	.	.	.	.	.	.	15/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,missense_variant,p.Leu541Arg,ENST00000381340,;	2039	49	83	SUCCESS
ATP5B	0	.	GRCh37	12	57037684	57037684	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	30	120	0	ENST00000262030.3:c.544A>G	p.Ile182Val	p.I182V	ENST00000262030	NM_001686.3	182	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8924.1	544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAATTTCCT	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01039,Gene3D:3.40.50.300,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347	.	.	ENSP00000262030	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000262030	Transcript	.	.	ENSG00000110955	830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.23)	.	ATPB_HUMAN	ATP5B	HGNC	Q0QEN7_HUMAN	.	UPI000012644E	SNV	ATP5B,missense_variant,p.Ile119Val,ENST00000552959,;ATP5B,missense_variant,p.Ile182Val,ENST00000552919,;ATP5B,missense_variant,p.Ile182Val,ENST00000262030,;ATP5B,missense_variant,p.Ile121Val,ENST00000551020,;ATP5B,intron_variant,,ENST00000552104,;ATP5B,intron_variant,,ENST00000553007,;ATP5B,upstream_gene_variant,,ENST00000551570,;SNORD59A,downstream_gene_variant,,ENST00000384304,;ATP5B,non_coding_transcript_exon_variant,,ENST00000547250,;ATP5B,non_coding_transcript_exon_variant,,ENST00000548647,;ATP5B,intron_variant,,ENST00000547808,;ATP5B,intron_variant,,ENST00000548474,;ATP5B,upstream_gene_variant,,ENST00000550162,;ATP5B,upstream_gene_variant,,ENST00000551182,;	595	120	163	SUCCESS
TPH2	121278	.	GRCh37	12	72416191	72416191	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	61	0	ENST00000333850.3:c.1081A>T	p.Thr361Ser	p.T361S	ENST00000333850	NM_173353.3	361	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS31859.1	1081	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCACAATC	NONE	.	.	PROSITE_profiles:PS51410,hmmpanther:PTHR11473:SF16,hmmpanther:PTHR11473,TIGRFAM_domain:TIGR01270,Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF56534	.	.	ENSP00000329093	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000333850	Transcript	.	.	ENSG00000139287	20692	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.266)	.	deleterious(0.04)	.	TPH2_HUMAN	TPH2	HGNC	Q14CC5_HUMAN,B3VS65_HUMAN,B3VS60_HUMAN,B3VS55_HUMAN,B3VS50_HUMAN,B3VS45_HUMAN,B3VS40_HUMAN,B3VS35_HUMAN,B3VS30_HUMAN,B3VS25_HUMAN,B3VS20_HUMAN,B3VS15_HUMAN	.	UPI000007446F	SNV	TPH2,missense_variant,p.Thr361Ser,ENST00000333850,;	1222	61	48	SUCCESS
SPATA13	221178	.	GRCh37	13	24861041	24861041	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	104	0	ENST00000382095.4:c.745A>G	p.Met249Val	p.M249V	ENST00000382095	NM_153023.2	249	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS53857.1	2620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCATGGAC	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065,Superfamily_domains:SSF50044	.	.	ENSP00000398560	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000424834	Transcript	.	.	ENSG00000182957	23222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.13)	.	.	SPATA13	HGNC	J3KQH2_HUMAN	.	UPI000165C148	SNV	SPATA13,missense_variant,p.Met874Val,ENST00000382108,;SPATA13,missense_variant,p.Met249Val,ENST00000382095,;SPATA13,missense_variant,p.Met171Val,ENST00000399949,;SPATA13,missense_variant,p.Met193Val,ENST00000343003,;SPATA13,missense_variant,p.Met874Val,ENST00000424834,;SPATA13,intron_variant,,ENST00000409126,;SPATA13,intron_variant,,ENST00000434675,;SPATA13,downstream_gene_variant,,ENST00000454083,;RP11-307N16.6,missense_variant,p.Met752Val,ENST00000382141,;	3093	104	121	SUCCESS
NUBPL	80224	.	GRCh37	14	32257020	32257020	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	47	0	ENST00000281081.7:c.548A>G	p.Asp183Gly	p.D183G	ENST00000281081	NM_025152.2	183	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS41940.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAGACATGC	NONE	.	.	hmmpanther:PTHR23264,hmmpanther:PTHR23264:SF4,PROSITE_patterns:PS01215,Pfam_domain:PF10609,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000281081	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000281081	Transcript	.	.	ENSG00000151413	20278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	NUBPL_HUMAN	NUBPL	HGNC	F8W061_HUMAN,B3KSK2_HUMAN	.	UPI00003669AB	SNV	NUBPL,missense_variant,p.Asp131Gly,ENST00000551314,;NUBPL,missense_variant,p.Asp183Gly,ENST00000281081,;NUBPL,missense_variant,p.Asp87Gly,ENST00000536705,;NUBPL,intron_variant,,ENST00000550649,;NUBPL,non_coding_transcript_exon_variant,,ENST00000418681,;NUBPL,intron_variant,,ENST00000547839,;NUBPL,downstream_gene_variant,,ENST00000549838,;	593	47	68	SUCCESS
EXOC5	10640	.	GRCh37	14	57698355	57698355	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	59	0	ENST00000413566.2:c.1017A>G	p.Lys339=	p.K339=	ENST00000413566	NM_006544.3	339	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS45111.1	1017	MUTECT|MUSE|VARSCANS	.	ATGGATTTGAT	NONE	.	.	Pfam_domain:PF07393,hmmpanther:PTHR12100	.	.	ENSP00000389934	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000413566	Transcript	.	.	ENSG00000070367	10696	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXOC5_HUMAN	EXOC5	HGNC	Q658M3_HUMAN,G3V4Z7_HUMAN	.	UPI0000047E53	SNV	EXOC5,synonymous_variant,p.%3D,ENST00000413566,;EXOC5,synonymous_variant,p.%3D,ENST00000340918,;EXOC5,downstream_gene_variant,,ENST00000554934,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000556629,;EXOC5,non_coding_transcript_exon_variant,,ENST00000554011,;	1377	59	81	SUCCESS
GJD2	57369	.	GRCh37	15	35044889	35044889	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	33	194	0	ENST00000290374.4:c.756C>T	p.Val252=	p.V252=	ENST00000290374	NM_020660.2	252	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS10040.1	756	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGACAGT	NONE	.	.	hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF10582,SMART_domains:SM01089,Prints_domain:PR00206	.	.	ENSP00000290374	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000290374	Transcript	.	.	ENSG00000159248	19154	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CXD2_HUMAN	GJD2	HGNC	.	.	UPI00001287E3	SNV	GJD2,synonymous_variant,p.%3D,ENST00000290374,;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	1233	194	245	SUCCESS
CEP152	22995	.	GRCh37	15	49054803	49054803	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	51	0	ENST00000380950.2:c.2347G>A	p.Ala783Thr	p.A783T	ENST00000380950	NM_001194998.1	783	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS58361.1	2347	RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCCTTTA	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6	.	.	ENSP00000370337	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000380950	Transcript	1	.	ENSG00000103995	29298	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	.	tolerated(0.33)	.	CE152_HUMAN	CEP152	HGNC	H0YN91_HUMAN	.	UPI00002378C4	SNV	CEP152,missense_variant,p.Ala783Thr,ENST00000380950,;CEP152,missense_variant,p.Ala690Thr,ENST00000325747,;CEP152,missense_variant,p.Ala783Thr,ENST00000399334,;	2535	51	70	SUCCESS
KRT33A	3883	.	GRCh37	17	39502874	39502874	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371555388	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	53	0	ENST00000007735.3:c.923G>A	p.Ser308Asn	p.S308N	ENST00000007735	NM_004138.3	308	aGc/aAc	0	T:0	.	.	.	.	T	S/N	protein_coding	YES	CCDS11388.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCTGTAG	NONE	byFrequency|byCluster	.	Prints_domain:PR01248,Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF98	.	T:0.0001	ENSP00000007735	.	6/7	.	.	.	.	.	.	.	.	rs371555388	6/7	PASS	ENST00000007735	Transcript	.	.	ENSG00000006059	6450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	tolerated(0.05)	.	KT33A_HUMAN	KRT33A	HGNC	.	.	UPI000013C503	SNV	KRT33A,missense_variant,p.Ser308Asn,ENST00000007735,;	968	53	78	SUCCESS
KRT36	8689	.	GRCh37	17	39643887	39643887	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	25	125	0	ENST00000328119.6:c.802C>T	p.Gln268Ter	p.Q268*	ENST00000328119	NM_003771.4	268	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11395.1	802	RADIA|MUTECT|MUSE|VARSCANS	.	GTACTGGCATC	NONE	.	.	hmmpanther:PTHR23239:SF144,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000329165	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000328119	Transcript	.	.	ENSG00000126337	6454	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRT36_HUMAN	KRT36	HGNC	.	.	UPI000012DAFA	SNV	KRT36,stop_gained,p.Gln218Ter,ENST00000393986,;KRT36,stop_gained,p.Gln268Ter,ENST00000328119,;	802	125	186	SUCCESS
TCEB3B	0	.	GRCh37	18	44561792	44561792	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	77	0	ENST00000332567.4:c.-157C>G		p.*53*	ENST00000332567	NM_016427.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11932.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGGAGCAG	NONE	.	.	.	.	.	ENSP00000331302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332567	Transcript	.	.	ENSG00000206181	30771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ELOA2_HUMAN	TCEB3B	HGNC	.	.	UPI0000140A82	SNV	TCEB3B,5_prime_UTR_variant,,ENST00000332567,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;	197	77	86	SUCCESS
FECH	2235	.	GRCh37	18	55226447	55226447	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	44	0	ENST00000262093.5:c.734T>A	p.Leu245Gln	p.L245Q	ENST00000262093	NM_000140.3	245	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32836.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCAGTTCC	NONE	.	.	HAMAP:MF_00323,hmmpanther:PTHR11108,hmmpanther:PTHR11108:SF1,Gene3D:3.40.50.1400,Pfam_domain:PF00762,TIGRFAM_domain:TIGR00109,Superfamily_domains:SSF53800	.	.	ENSP00000372326	.	7/11	.	.	.	.	.	.	.	.	CM042047	7/11	PASS	ENST00000382873	Transcript	.	.	ENSG00000066926	3647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	.	HEMH_HUMAN	FECH	HGNC	Q8TD50_HUMAN,K7EPN2_HUMAN,B4DSA4_HUMAN	.	UPI00004E55EB	SNV	FECH,missense_variant,p.Leu245Gln,ENST00000262093,;FECH,missense_variant,p.Leu251Gln,ENST00000382873,;FECH,coding_sequence_variant,p.%3D,ENST00000591977,;FECH,intron_variant,,ENST00000592699,;FECH,3_prime_UTR_variant,,ENST00000585494,;	786	44	54	SUCCESS
CIRBP	1153	.	GRCh37	19	1271998	1271998	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	360	76	314	0	ENST00000320936.5:c.450del	p.Tyr151ThrfsTer38	p.Y151Tfs*38	ENST00000320936	NM_001280.2	150	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS12059.1	450	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTGGCTACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF269,hmmpanther:PTHR24012	.	.	ENSP00000468788	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000588030	Transcript	.	.	ENSG00000099622	1982	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CIRBP_HUMAN	CIRBP	HGNC	Q53XX5_HUMAN,K7EQX4_HUMAN,K7EMY9_HUMAN,K7ELV6_HUMAN,K7EJV5_HUMAN	.	UPI00001279F8	deletion	CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000589660,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer63,ENST00000586773,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer63,ENST00000591935,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer?,ENST00000586548,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer45,ENST00000588230,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer45,ENST00000589710,;CIRBP,frameshift_variant,p.Tyr98ThrfsTer45,ENST00000444172,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000320936,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer63,ENST00000589235,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer45,ENST00000587323,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer45,ENST00000587896,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer?,ENST00000589686,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000585630,;CIRBP,frameshift_variant,p.Tyr117ThrfsTer45,ENST00000413636,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000588090,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000586472,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000588030,;CIRBP,intron_variant,,ENST00000589266,;CIRBP,downstream_gene_variant,,ENST00000588344,;CIRBP,downstream_gene_variant,,ENST00000592815,;C19orf24,upstream_gene_variant,,ENST00000409293,;C19orf24,upstream_gene_variant,,ENST00000469144,;CIRBP,downstream_gene_variant,,ENST00000591659,;CIRBP,downstream_gene_variant,,ENST00000592051,;CIRBP,downstream_gene_variant,,ENST00000588411,;CIRBP-AS1,upstream_gene_variant,,ENST00000585832,;CIRBP-AS1,upstream_gene_variant,,ENST00000600215,;CIRBP,upstream_gene_variant,,ENST00000590188,;C19orf24,upstream_gene_variant,,ENST00000590269,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer38,ENST00000585914,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer108,ENST00000586636,;CIRBP,frameshift_variant,p.Tyr36ThrfsTer37,ENST00000592234,;CIRBP,frameshift_variant,p.Tyr151ThrfsTer107,ENST00000585913,;CIRBP,3_prime_UTR_variant,,ENST00000593048,;CIRBP,3_prime_UTR_variant,,ENST00000591055,;CIRBP,3_prime_UTR_variant,,ENST00000590171,;CIRBP,3_prime_UTR_variant,,ENST00000590347,;CIRBP,3_prime_UTR_variant,,ENST00000591376,;CIRBP,3_prime_UTR_variant,,ENST00000587169,;CIRBP,3_prime_UTR_variant,,ENST00000591097,;CIRBP,3_prime_UTR_variant,,ENST00000592412,;CIRBP,non_coding_transcript_exon_variant,,ENST00000587812,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593093,;CIRBP,non_coding_transcript_exon_variant,,ENST00000593128,;CIRBP,non_coding_transcript_exon_variant,,ENST00000590704,;CIRBP,downstream_gene_variant,,ENST00000593283,;C19orf24,upstream_gene_variant,,ENST00000485191,;CIRBP,upstream_gene_variant,,ENST00000588917,;CIRBP,upstream_gene_variant,,ENST00000586555,;	710	314	436	SUCCESS
SLC5A5	6528	.	GRCh37	19	18001723	18001723	+	synonymous_variant	Silent	SNP	G	G	A	rs149937279	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	58	0	ENST00000222248.3:c.1680G>A	p.Pro560=	p.P560=	ENST00000222248	NM_000453.2	560	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS12368.1	1680	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGGGATT	BUFFER|p.G561E|c.1682G>A|3	byCluster	.	hmmpanther:PTHR11819:SF18,hmmpanther:PTHR11819	.	A:0	ENSP00000222248	.	14/15	.	.	.	.	.	.	.	.	rs149937279,COSM4075524	14/15	PASS	ENST00000222248	Transcript	1	.	ENSG00000105641	11040	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SC5A5_HUMAN	SLC5A5	HGNC	Q9UEU3_HUMAN	.	UPI00001359F6	SNV	SLC5A5,synonymous_variant,p.%3D,ENST00000222248,;SLC5A5,downstream_gene_variant,,ENST00000597109,;	2027	58	70	SUCCESS
KMT2B	9757	.	GRCh37	19	36219035	36219035	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1456547984	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	14	89	0	ENST00000222270.7:c.4534G>A	p.Asp1512Asn	p.D1512N	ENST00000222270	NM_014727.1	1512	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS46055.1	4534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGACCCC	NONE	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,missense_variant,p.Asp1512Asn,ENST00000420124,;KMT2B,missense_variant,p.Asp1512Asn,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;	4534	89	98	SUCCESS
PPP5C	5536	.	GRCh37	19	46857241	46857241	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs760192092	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	22	57	0	ENST00000012443.4:c.358G>C	p.Glu120Gln	p.E120Q	ENST00000012443	NM_006247.3	120	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS12684.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACGAGACG	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Gene3D:1.25.40.10,Pfam_domain:PF00515,PIRSF_domain:PIRSF033096,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000012443	.	2/13	.	.	.	.	.	.	.	.	rs760192092	2/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.225)	.	tolerated(0.3)	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,missense_variant,p.Glu14Gln,ENST00000391919,;PPP5C,missense_variant,p.Glu120Gln,ENST00000012443,;PPP5C,missense_variant,p.Glu119Gln,ENST00000478046,;	461	57	119	SUCCESS
TUBB4A	10382	.	GRCh37	19	6495513	6495513	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1323470395	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	52	0	ENST00000264071.2:c.997G>A	p.Val333Met	p.V333M	ENST00000264071		333	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS12168.1	997	MUTECT|MUSE|VARSCANS	.	CTGCACGCTCA	NONE	.	.	hmmpanther:PTHR11588:SF58,hmmpanther:PTHR11588,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01163	.	.	ENSP00000264071	.	4/4	.	.	.	.	.	.	.	.	COSM3389489	4/4	PASS	ENST00000264071	Transcript	1	.	ENSG00000104833	20774	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.351)	.	tolerated_low_confidence(0.09)	1	TBB4A_HUMAN	TUBB4A	HGNC	M0R1I1_HUMAN,M0QY85_HUMAN	.	UPI000005FC27	SNV	TUBB4A,missense_variant,p.Val333Met,ENST00000264071,;TUBB4A,missense_variant,p.Val333Met,ENST00000540257,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000594290,;TUBB4A,downstream_gene_variant,,ENST00000595324,;	1369	52	66	SUCCESS
LRRC8E	80131	.	GRCh37	19	7964686	7964686	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1182964012	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	25	0	ENST00000306708.6:c.1279C>T	p.Pro427Ser	p.P427S	ENST00000306708	NM_025061.4	427	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS12189.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCCGGGT	NONE	.	.	hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF250,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000306524	.	3/3	.	.	.	.	.	.	.	.	COSM1725392	3/3	PASS	ENST00000306708	Transcript	.	.	ENSG00000171017	26272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.902)	.	tolerated(1)	1	LRC8E_HUMAN	LRRC8E	HGNC	M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN	.	UPI0000201F4F	SNV	LRRC8E,missense_variant,p.Pro427Ser,ENST00000306708,;AC010336.1,missense_variant,p.Gly194Asp,ENST00000539278,;MAP2K7,upstream_gene_variant,,ENST00000545011,;MAP2K7,upstream_gene_variant,,ENST00000397979,;LRRC8E,downstream_gene_variant,,ENST00000599367,;LRRC8E,downstream_gene_variant,,ENST00000600345,;MAP2K7,upstream_gene_variant,,ENST00000397981,;MAP2K7,upstream_gene_variant,,ENST00000397983,;LRRC8E,downstream_gene_variant,,ENST00000598224,;LRRC8E,downstream_gene_variant,,ENST00000593511,;RN7SL115P,downstream_gene_variant,,ENST00000392196,;MAP2K7,upstream_gene_variant,,ENST00000468058,;MAP2K7,upstream_gene_variant,,ENST00000475022,;	1380	25	51	SUCCESS
PLXNA2	5362	.	GRCh37	1	208269429	208269429	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776769661	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	15	95	0	ENST00000367033.3:c.1927G>T	p.Gly643Trp	p.G643W	ENST00000367033	NM_025179.3	643	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS31013.1	1927	MUTECT|MUSE|VARSCANS	.	CTTCCCTGTCT	NONE	byFrequency	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625	.	.	ENSP00000356000	.	8/32	.	.	.	.	.	.	.	.	rs776769661	8/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.855)	.	deleterious(0)	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,missense_variant,p.Gly643Trp,ENST00000367033,;	2685	95	153	SUCCESS
LEFTY1	10637	.	GRCh37	1	226076566	226076566	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	59	42	1	ENST00000272134.5:c.201C>T	p.Arg67=	p.R67=	ENST00000272134	NM_020997.3	67	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS1548.1	201	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCTGCGCTG	NONE	.	.	hmmpanther:PTHR11848:SF7,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF037402	.	.	ENSP00000272134	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000272134	Transcript	.	.	ENSG00000243709	6552	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LFTY1_HUMAN	LEFTY1	HGNC	.	.	UPI000003721B	SNV	LEFTY1,synonymous_variant,p.%3D,ENST00000272134,;RP4-559A3.7,intron_variant,,ENST00000432920,;LEFTY1,intron_variant,,ENST00000492457,;	281	43	123	SUCCESS
RAB4A	5867	.	GRCh37	1	229434759	229434759	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	18	77	0	ENST00000366690.4:c.481G>T	p.Glu161Ter	p.E161*	ENST00000366690	NM_004578.3	161	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31050.1	481	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGAGAAT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF439,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000355651	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000366690	Transcript	.	.	ENSG00000168118	9781	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB4A_HUMAN	RAB4A	HGNC	.	.	UPI0000161F4E	SNV	RAB4A,stop_gained,p.Glu161Ter,ENST00000366690,;RAB4A,non_coding_transcript_exon_variant,,ENST00000473894,;	689	77	130	SUCCESS
ZNF337	26152	.	GRCh37	20	25655887	25655887	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1009380190	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	38	137	0	ENST00000252979.5:c.2037C>G	p.His679Gln	p.H679Q	ENST00000252979	NM_015655.2	679	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS13174.1	2037	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAGTGTAT	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF22,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000365619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376436	Transcript	.	.	ENSG00000130684	15809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0)	.	ZN337_HUMAN	ZNF337	HGNC	B3KPK8_HUMAN	.	UPI000013C35E	SNV	ZNF337,missense_variant,p.His679Gln,ENST00000252979,;ZNF337,missense_variant,p.His647Gln,ENST00000538750,;ZNF337,missense_variant,p.His679Gln,ENST00000376436,;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337-AS1,downstream_gene_variant,,ENST00000420803,;ZNF337,downstream_gene_variant,,ENST00000481610,;MED28P7,upstream_gene_variant,,ENST00000456611,;	2577	137	164	SUCCESS
EPB41L1	2036	.	GRCh37	20	34797717	34797717	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs140677677	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	76	1	ENST00000338074.2:c.1976G>T	p.Arg659Leu	p.R659L	ENST00000338074	NM_012156.2	659	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS13271.1	1976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGGATC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF7,PIRSF_domain:PIRSF002304	.	.	ENSP00000337168	.	15/22	.	.	.	.	.	.	.	.	rs140677677,COSM723875,COSM723876	15/22	PASS	ENST00000338074	Transcript	1	.	ENSG00000088367	3378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.017)	.	tolerated(0.15)	0,1,1	E41L1_HUMAN	EPB41L1	HGNC	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN	.	UPI0000129AF8	SNV	EPB41L1,missense_variant,p.Arg659Leu,ENST00000338074,;EPB41L1,missense_variant,p.Arg550Leu,ENST00000373950,;EPB41L1,missense_variant,p.Arg659Leu,ENST00000373941,;EPB41L1,missense_variant,p.Arg585Leu,ENST00000202028,;EPB41L1,missense_variant,p.Arg585Leu,ENST00000441639,;EPB41L1,intron_variant,,ENST00000451082,;EPB41L1,intron_variant,,ENST00000454226,;EPB41L1,intron_variant,,ENST00000373946,;EPB41L1,upstream_gene_variant,,ENST00000432603,;EPB41L1,non_coding_transcript_exon_variant,,ENST00000479336,;	2137	77	97	SUCCESS
SLC17A9	63910	.	GRCh37	20	61595009	61595009	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs778185586	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	53	1	ENST00000370351.4:c.799G>C	p.Glu267Gln	p.E267Q	ENST00000370351	NM_022082.3	267	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS42901.1	799	MUTECT|VARSCANS	.	TCTTCGAGGAG	CODON|p.F266F|c.798C>T|4	byFrequency	.	Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	.	.	ENSP00000359376	.	7/13	.	.	.	.	.	.	.	.	rs778185586,COSM193333	7/13	PASS	ENST00000370351	Transcript	1	.	ENSG00000101194	16192	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.004)	.	tolerated(0.14)	0,1	S17A9_HUMAN	SLC17A9	HGNC	.	.	UPI000014051D	SNV	SLC17A9,missense_variant,p.Glu267Gln,ENST00000370351,;SLC17A9,missense_variant,p.Glu261Gln,ENST00000370349,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000487303,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000459704,;SLC17A9,upstream_gene_variant,,ENST00000483113,;	930	54	71	SUCCESS
ITSN1	6453	.	GRCh37	21	35183471	35183471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	30	127	0	ENST00000381318.3:c.2512G>T	p.Val838Leu	p.V838L	ENST00000381318	NM_003024.2	838	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS33545.1	2512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGTAACC	NONE	.	.	hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216	.	.	ENSP00000370719	.	21/40	.	.	.	.	.	.	.	.	.	21/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.91)	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,missense_variant,p.Val796Leu,ENST00000399353,;ITSN1,missense_variant,p.Val833Leu,ENST00000399352,;ITSN1,missense_variant,p.Val833Leu,ENST00000399338,;ITSN1,missense_variant,p.Val833Leu,ENST00000399326,;ITSN1,missense_variant,p.Val833Leu,ENST00000437442,;ITSN1,missense_variant,p.Val833Leu,ENST00000379960,;ITSN1,missense_variant,p.Val838Leu,ENST00000381285,;ITSN1,missense_variant,p.Val838Leu,ENST00000381318,;ITSN1,missense_variant,p.Val833Leu,ENST00000399349,;ITSN1,missense_variant,p.Val73Leu,ENST00000440794,;ITSN1,missense_variant,p.Val838Leu,ENST00000399355,;ITSN1,missense_variant,p.Val833Leu,ENST00000399367,;ITSN1,missense_variant,p.Val838Leu,ENST00000381291,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,3_prime_UTR_variant,,ENST00000419241,;ITSN1,upstream_gene_variant,,ENST00000465143,;	2800	127	154	SUCCESS
PMS1	5378	.	GRCh37	2	190742031	190742031	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs537745271	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	14	96	0	ENST00000441310.2:c.2668A>G	p.Met890Val	p.M890V	ENST00000441310	NM_000534.4	890	Atg/Gtg	0	.	T:0	.	T:0	.	G	M/V	protein_coding	YES	CCDS2302.1	2668	RADIA|MUTECT|MUSE|VARSCANS	.	TACCCATGTAC	NONE	by1000G	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38	T:0	.	ENSP00000406490	T:0	13/13	.	.	.	.	.	.	.	.	rs537745271,COSM718812	13/13	PASS	ENST00000441310	Transcript	.	T:0.0002	ENSG00000064933	9121	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.028)	T:0.001	deleterious(0.05)	0,1	PMS1_HUMAN	PMS1	HGNC	Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN	.	UPI00000405F5	SNV	PMS1,missense_variant,p.Met890Val,ENST00000441310,;PMS1,missense_variant,p.Met714Val,ENST00000432292,;PMS1,missense_variant,p.Met728Val,ENST00000447232,;PMS1,missense_variant,p.Met851Val,ENST00000409823,;PMS1,missense_variant,p.Met513Val,ENST00000409593,;PMS1,missense_variant,p.Met714Val,ENST00000418224,;PMS1,downstream_gene_variant,,ENST00000452382,;PMS1,downstream_gene_variant,,ENST00000424059,;C2orf88,upstream_gene_variant,,ENST00000478197,;C2orf88,upstream_gene_variant,,ENST00000495546,;PMS1,3_prime_UTR_variant,,ENST00000450931,;PMS1,3_prime_UTR_variant,,ENST00000342075,;	2901	96	134	SUCCESS
APOB	338	.	GRCh37	2	21259995	21259995	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	22	186	0	ENST00000233242.1:c.670C>T	p.Pro224Ser	p.P224S	ENST00000233242	NM_000384.2	224	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1703.1	670	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGGGCTGA	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF01347,Gene3D:1lshA01,SMART_domains:SM00638,Superfamily_domains:SSF56968	.	.	ENSP00000233242	.	6/29	.	.	.	.	.	.	.	.	.	6/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Pro224Ser,ENST00000233242,;APOB,missense_variant,p.Pro224Ser,ENST00000399256,;	798	186	200	SUCCESS
CIB4	130106	.	GRCh37	2	26852279	26852279	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs374300070	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	72	0	ENST00000288861.4:c.185G>A	p.Arg62Gln	p.R62Q	ENST00000288861	NM_001029881.1	62	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33160.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCGCAGA	NONE	.	.	hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF35,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000288861	.	3/7	.	.	.	.	.	.	.	.	rs374300070	3/7	PASS	ENST00000288861	Transcript	.	.	ENSG00000157884	33703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.07)	.	CIB4_HUMAN	CIB4	HGNC	.	.	UPI0000160176	SNV	CIB4,missense_variant,p.Arg62Gln,ENST00000288861,;	239	72	85	SUCCESS
ETAA1	54465	.	GRCh37	2	67631603	67631603	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765295428	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	72	0	ENST00000272342.5:c.1789G>C	p.Asp597His	p.D597H	ENST00000272342	NM_019002.3	597	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS1882.1	1789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTAGATAAT	NONE	byFrequency	.	hmmpanther:PTHR16434:SF1,hmmpanther:PTHR16434,Pfam_domain:PF15350	.	.	ENSP00000272342	.	5/6	.	.	.	.	.	.	.	.	rs765295428	5/6	PASS	ENST00000272342	Transcript	.	.	ENSG00000143971	24648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.807)	.	deleterious(0)	.	ETAA1_HUMAN	ETAA1	HGNC	.	.	UPI00001414BC	SNV	ETAA1,missense_variant,p.Asp597His,ENST00000272342,;ETAA1,intron_variant,,ENST00000462772,;	1919	72	78	SUCCESS
LRRC58	116064	.	GRCh37	3	120067725	120067725	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	29	0	ENST00000295628.3:c.366C>A	p.Leu122=	p.L122=	ENST00000295628	NM_001099678.1	122	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46892.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGAGGCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF408,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF12799,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000295628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000295628	Transcript	.	.	ENSG00000163428	26968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC58_HUMAN	LRRC58	HGNC	.	.	UPI00001C1DEE	SNV	LRRC58,synonymous_variant,p.%3D,ENST00000295628,;RP11-174O3.3,upstream_gene_variant,,ENST00000494869,;	462	29	69	SUCCESS
COPG1	22820	.	GRCh37	3	128991183	128991183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	254	46	232	1	ENST00000314797.6:c.2083G>T	p.Ala695Ser	p.A695S	ENST00000314797	NM_016128.3	695	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33851.1	2083	RADIA|VARSCANS	.	TGCCTGCCCGG	NONE	.	.	Superfamily_domains:SSF49348,PIRSF_domain:PIRSF037093,Pfam_domain:PF08752,Gene3D:1r4xA01,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	.	ENSP00000325002	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.664)	.	tolerated(0.32)	.	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,missense_variant,p.Ala695Ser,ENST00000314797,;COPG1,splice_region_variant,,ENST00000509889,;COPG1,missense_variant,p.Ala16Ser,ENST00000514478,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,upstream_gene_variant,,ENST00000512034,;	2187	233	300	SUCCESS
SENP5	205564	.	GRCh37	3	196612730	196612731	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs377360718	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	32	0	ENST00000323460.5:c.680dup	p.Leu227PhefsTer8	p.L227Ffs*8	ENST00000323460	NM_152699.4	226	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS3322.1	678-679	VARSCANI*|PINDEL	.	ATAAAATTATC	NONE	.	.	hmmpanther:PTHR12606:SF12,hmmpanther:PTHR12606	.	.	ENSP00000327197	.	2/10	.	.	.	.	.	.	.	.	rs377360718	2/10	PASS	ENST00000323460	Transcript	.	.	ENSG00000119231	28407	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SENP5_HUMAN	SENP5	HGNC	C9JHT8_HUMAN	.	UPI00001AF3BE	insertion	SENP5,frameshift_variant,p.Leu227PhefsTer8,ENST00000323460,;SENP5,frameshift_variant,p.Leu227PhefsTer8,ENST00000445299,;SENP5,intron_variant,,ENST00000419026,;	927-928	32	35	SUCCESS
USP4	7375	.	GRCh37	3	49321560	49321560	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	33	179	0	ENST00000265560.4:c.2400C>T	p.Pro800=	p.P800=	ENST00000265560	NM_003363.3	800	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2793.1	2400	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGGGACA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000265560	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000265560	Transcript	.	.	ENSG00000114316	12627	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBP4_HUMAN	USP4	HGNC	.	.	UPI000013D63C	SNV	USP4,synonymous_variant,p.%3D,ENST00000351842,;USP4,synonymous_variant,p.%3D,ENST00000265560,;USP4,synonymous_variant,p.%3D,ENST00000431357,;USP4,downstream_gene_variant,,ENST00000475873,;USP4,non_coding_transcript_exon_variant,,ENST00000485450,;USP4,upstream_gene_variant,,ENST00000483212,;	2447	179	223	SUCCESS
UBA7	7318	.	GRCh37	3	49849633	49849633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	29	149	0	ENST00000333486.3:c.701G>T	p.Gly234Val	p.G234V	ENST00000333486	NM_003335.2	234	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2805.1	701	RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCCATCC	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572	.	.	ENSP00000333266	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000333486	Transcript	.	.	ENSG00000182179	12471	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.322)	.	tolerated(0.15)	.	UBA7_HUMAN	UBA7	HGNC	.	.	UPI000006E3F8	SNV	UBA7,missense_variant,p.Gly234Val,ENST00000333486,;UBA7,downstream_gene_variant,,ENST00000494212,;UBA7,non_coding_transcript_exon_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000473992,;UBA7,upstream_gene_variant,,ENST00000460703,;UBA7,upstream_gene_variant,,ENST00000488536,;UBA7,upstream_gene_variant,,ENST00000478875,;UBA7,upstream_gene_variant,,ENST00000460516,;UBA7,upstream_gene_variant,,ENST00000483751,;UBA7,upstream_gene_variant,,ENST00000489826,;	860	149	170	SUCCESS
DNAH12	201625	.	GRCh37	3	57391435	57391435	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	24	82	0	ENST00000351747.2:c.6464A>G	p.His2155Arg	p.H2155R	ENST00000351747	NM_178504.4	2155	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	.	.	6464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAATGGTCC	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676	.	.	ENSP00000295937	.	41/59	.	.	.	.	.	.	.	.	.	41/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.18)	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,missense_variant,p.His2155Arg,ENST00000351747,;DNAH12,missense_variant,p.His2174Arg,ENST00000495027,;	6645	82	113	SUCCESS
MIR302A	407028	.	GRCh37	4	113569387	113569387	+	mature_miRNA_variant	RNA	SNP	A	A	G	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	27	134	0	ENST00000385192.1:n.21T>C		p.*7*	ENST00000385192				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58924.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTACATCC	NONE	.	.	.	.	.	ENSP00000422626	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000509061	Transcript	1	.	ENSG00000174720	24912	.	.	MODIFIER	10/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LARP7_HUMAN	LARP7	HGNC	D6RFF0_HUMAN,D6RF49_HUMAN,D6RAF3_HUMAN	.	UPI000020B34C	SNV	LARP7,intron_variant,,ENST00000511529,;LARP7,intron_variant,,ENST00000324052,;LARP7,intron_variant,,ENST00000344442,;LARP7,intron_variant,,ENST00000509061,;LARP7,intron_variant,,ENST00000513553,;LARP7,downstream_gene_variant,,ENST00000505034,;LARP7,downstream_gene_variant,,ENST00000507443,;LARP7,downstream_gene_variant,,ENST00000508577,;MIR302A,non_coding_transcript_exon_variant,,ENST00000385192,;MIR367,upstream_gene_variant,,ENST00000362299,;MIR302D,upstream_gene_variant,,ENST00000362275,;MIR302C,downstream_gene_variant,,ENST00000362232,;MIR302B,downstream_gene_variant,,ENST00000362188,;MIR302B,intron_variant,,ENST00000510655,;MIR302B,intron_variant,,ENST00000509938,;MIR302B,intron_variant,,ENST00000505215,;LARP7,downstream_gene_variant,,ENST00000503316,;LARP7,intron_variant,,ENST00000509622,;LARP7,downstream_gene_variant,,ENST00000505216,;LARP7,upstream_gene_variant,,ENST00000512361,;LARP7,downstream_gene_variant,,ENST00000512589,;	.	134	143	SUCCESS
SLC10A7	84068	.	GRCh37	4	147179851	147179851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	10	60	0	ENST00000507030.1:c.986G>A	p.Arg329Lys	p.R329K	ENST00000507030		329	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS34073.1	986	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCTTGAT	NONE	.	.	hmmpanther:PTHR18640,PIRSF_domain:PIRSF026166	.	.	ENSP00000334594	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000335472	Transcript	.	.	ENSG00000120519	23088	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.15)	.	NTCP7_HUMAN	SLC10A7	HGNC	B3KWW2_HUMAN	.	UPI000020B547	SNV	SLC10A7,missense_variant,p.Arg316Lys,ENST00000432059,;SLC10A7,missense_variant,p.Arg329Lys,ENST00000507030,;SLC10A7,missense_variant,p.Arg329Lys,ENST00000394062,;SLC10A7,missense_variant,p.Arg329Lys,ENST00000335472,;SLC10A7,3_prime_UTR_variant,,ENST00000264986,;	1202	60	87	SUCCESS
SLC22A5	6584	.	GRCh37	5	131721132	131721132	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs751045558	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	71	138	0	ENST00000245407.3:c.765C>G	p.Asp255Glu	p.D255E	ENST00000245407	NM_003060.3	255	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS4154.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGACTGGCG	NONE	.	.	Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5,PROSITE_profiles:PS50850	.	.	ENSP00000245407	.	4/10	.	.	.	.	.	.	.	.	rs751045558	4/10	PASS	ENST00000245407	Transcript	1	.	ENSG00000197375	10969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	tolerated(0.18)	.	S22A5_HUMAN	SLC22A5	HGNC	.	.	UPI0000130BB6	SNV	SLC22A5,missense_variant,p.Asp255Glu,ENST00000245407,;SLC22A5,missense_variant,p.Asp279Glu,ENST00000435065,;SLC22A5,missense_variant,p.Asp178Glu,ENST00000415928,;SLC22A5,upstream_gene_variant,,ENST00000479605,;SLC22A5,missense_variant,p.Asp38Glu,ENST00000448810,;SLC22A5,3_prime_UTR_variant,,ENST00000437841,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,upstream_gene_variant,,ENST00000475308,;SLC22A5,upstream_gene_variant,,ENST00000447841,;	986	138	251	SUCCESS
TBC1D32	221322	.	GRCh37	6	121563360	121563360	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	6	39	0	ENST00000398212.2:c.2144C>T	p.Ala715Val	p.A715V	ENST00000398212	NM_152730.4	715	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43501.1	2144	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGCATAT	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.341)	.	deleterious(0.02)	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,missense_variant,p.Ala715Val,ENST00000398212,;TBC1D32,missense_variant,p.Ala715Val,ENST00000275159,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	2194	39	45	SUCCESS
FLOT1	10211	.	GRCh37	6	30698721	30698721	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs576921685	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	29	0	ENST00000376389.3:c.880C>G	p.Leu294Val	p.L294V	ENST00000376389	NM_005803.2	294	Ctg/Gtg	0	.	A:0.0008	.	A:0	.	C	L/V	protein_coding	YES	CCDS4688.1	880	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGCTTGT	NONE	by1000G	.	hmmpanther:PTHR13806:SF18,hmmpanther:PTHR13806	A:0	.	ENSP00000365569	A:0	9/13	.	.	.	.	.	.	.	.	rs576921685	9/13	PASS	ENST00000376389	Transcript	.	A:0.0002	ENSG00000137312	3757	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.291)	A:0	tolerated(0.28)	.	FLOT1_HUMAN	FLOT1	HGNC	Q5ST80_HUMAN,A2AB13_HUMAN,A2AB12_HUMAN,A2AB10_HUMAN	.	UPI000000D73F	SNV	FLOT1,missense_variant,p.Leu231Val,ENST00000413165,;FLOT1,missense_variant,p.Leu246Val,ENST00000456573,;FLOT1,missense_variant,p.Leu294Val,ENST00000376389,;FLOT1,downstream_gene_variant,,ENST00000438162,;FLOT1,non_coding_transcript_exon_variant,,ENST00000487376,;FLOT1,downstream_gene_variant,,ENST00000476729,;	1101	29	44	SUCCESS
EHMT2	10919	.	GRCh37	6	31851702	31851702	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146726232	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	14	64	0	ENST00000375537.4:c.2797G>A	p.Val933Met	p.V933M	ENST00000375537	NM_006709.3	933	Gtg/Atg	0	T:0	T:0	.	T:0	.	T	V/M	protein_coding	YES	CCDS4725.1	2797	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACGTTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306,Gene3D:2.170.270.10,Pfam_domain:PF05033,SMART_domains:SM00468,Superfamily_domains:SSF82199	T:0.001	T:0.0001	ENSP00000364687	T:0	22/28	.	.	.	.	.	.	.	.	rs146726232,COSM1734241	22/28	PASS	ENST00000375537	Transcript	.	T:0.0004	ENSG00000204371	14129	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	T:0.001	tolerated(0.06)	0,1	EHMT2_HUMAN	EHMT2	HGNC	.	.	UPI000013D085	SNV	EHMT2,missense_variant,p.Val264Met,ENST00000436026,;EHMT2,missense_variant,p.Val956Met,ENST00000375528,;EHMT2,missense_variant,p.Val990Met,ENST00000395728,;EHMT2,missense_variant,p.Val899Met,ENST00000375530,;EHMT2,missense_variant,p.Val933Met,ENST00000375537,;SLC44A4,upstream_gene_variant,,ENST00000229729,;SLC44A4,upstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000375562,;EHMT2-AS1,non_coding_transcript_exon_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000478491,;SLC44A4,upstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000462671,;EHMT2,non_coding_transcript_exon_variant,,ENST00000461880,;EHMT2,non_coding_transcript_exon_variant,,ENST00000494816,;EHMT2,downstream_gene_variant,,ENST00000477678,;	2804	64	112	SUCCESS
CUL9	23113	.	GRCh37	6	43166474	43166474	+	synonymous_variant	Silent	SNP	C	C	A	rs747431685	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	38	0	ENST00000252050.4:c.2931C>A	p.Pro977=	p.P977=	ENST00000252050	NM_015089.2	977	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4890.1	2931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCGGAGG	NONE	byFrequency	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	12/41	.	.	.	.	.	.	.	.	rs747431685,COSM4161216	12/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,synonymous_variant,p.%3D,ENST00000354495,;CUL9,synonymous_variant,p.%3D,ENST00000372647,;CUL9,synonymous_variant,p.%3D,ENST00000252050,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,upstream_gene_variant,,ENST00000515344,;	3015	38	63	SUCCESS
IMPG1	3617	.	GRCh37	6	76731919	76731919	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	55	0	ENST00000369950.3:c.580C>A	p.Leu194Ile	p.L194I	ENST00000369950	NM_001563.2	194	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS4985.1	580	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGTGAGA	NONE	.	.	hmmpanther:PTHR12199	.	.	ENSP00000358966	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000369950	Transcript	.	.	ENSG00000112706	6055	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.092)	.	tolerated(0.13)	.	IMPG1_HUMAN	IMPG1	HGNC	H0UI08_HUMAN	.	UPI0000073F12	SNV	IMPG1,missense_variant,p.Leu194Ile,ENST00000369950,;IMPG1,3_prime_UTR_variant,,ENST00000369963,;	770	55	59	SUCCESS
HTR1E	3354	.	GRCh37	6	87725469	87725469	+	synonymous_variant	Silent	SNP	C	C	T	rs146428063	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	5	142	0	ENST00000305344.5:c.417C>T	p.Ala139=	p.A139=	ENST00000305344	NM_000865.2	139	gcC/gcT	0	A:0	.	.	.	.	T	A	protein_coding	YES	CCDS5006.1	417	MUTECT|MUSE	.	AGGGCCGCGCT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0001	ENSP00000307766	.	2/2	.	.	.	.	.	.	.	.	rs146428063	2/2	PASS	ENST00000305344	Transcript	.	.	ENSG00000168830	5291	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	5HT1E_HUMAN	HTR1E	HGNC	.	.	UPI000000126D	SNV	HTR1E,synonymous_variant,p.%3D,ENST00000305344,;	1120	142	164	SUCCESS
DPP6	1804	.	GRCh37	7	154002597	154002597	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	51	0	ENST00000377770.3:c.244-140702G>T		p.*82*	ENST00000377770				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGCCAAG	NONE	.	.	.	.	.	ENSP00000367001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODIFIER	1/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Glu6Asp,ENST00000427557,;DPP6,missense_variant,p.Glu6Asp,ENST00000332007,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000496611,;DPP6,non_coding_transcript_exon_variant,,ENST00000462622,;	.	52	82	SUCCESS
SDK1	221935	.	GRCh37	7	4277393	4277393	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	45	187	0	ENST00000404826.2:c.6107A>G	p.Lys2036Arg	p.K2036R	ENST00000404826	NM_152744.3	2036	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS34590.1	6107	RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGAAGT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36	.	.	ENSP00000385899	.	42/45	.	.	.	.	.	.	.	.	.	42/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.2)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Lys2036Arg,ENST00000404826,;SDK1,missense_variant,p.Lys2016Arg,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000466611,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;SDK1,downstream_gene_variant,,ENST00000467827,;	6246	187	261	SUCCESS
VWC2	375567	.	GRCh37	7	49951654	49951654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780603854	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	128	0	ENST00000340652.4:c.851C>T	p.Ala284Val	p.A284V	ENST00000340652	NM_198570.3	284	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5508.1	851	RADIA|MUTECT|MUSE|VARSCANS	.	AACCGCGGTGA	NONE	byFrequency	.	hmmpanther:PTHR11339:SF258,hmmpanther:PTHR11339	.	.	ENSP00000341819	.	4/4	.	.	.	.	.	.	.	.	rs780603854	4/4	PASS	ENST00000340652	Transcript	.	.	ENSG00000188730	30200	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	tolerated(0.12)	.	VWC2_HUMAN	VWC2	HGNC	.	.	UPI00002373A5	SNV	VWC2,missense_variant,p.Ala284Val,ENST00000340652,;ZPBP,intron_variant,,ENST00000465922,;ZPBP,intron_variant,,ENST00000491129,;	1407	128	130	SUCCESS
EIF4H	7458	.	GRCh37	7	73605525	73605525	+	intron_variant	Intron	SNP	C	C	T	rs782187841	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	51	0	ENST00000265753.8:c.469+889C>T		p.*157*	ENST00000265753	NM_022170.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5564.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCTGTAG	NONE	.	.	.	.	.	ENSP00000265753	.	.	.	.	.	.	.	.	.	.	rs782187841	.	PASS	ENST00000265753	Transcript	.	.	ENSG00000106682	12741	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IF4H_HUMAN	EIF4H	HGNC	Q75MU2_HUMAN,Q75MU1_HUMAN,Q75MT8_HUMAN	.	UPI000012D373	SNV	EIF4H,intron_variant,,ENST00000265753,;EIF4H,intron_variant,,ENST00000353999,;MIR590,upstream_gene_variant,,ENST00000385008,;EIF4H,intron_variant,,ENST00000495187,;EIF4H,downstream_gene_variant,,ENST00000489484,;EIF4H,downstream_gene_variant,,ENST00000479338,;	.	51	59	SUCCESS
ZFPM2	23414	.	GRCh37	8	106814199	106814199	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756076552	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	24	97	0	ENST00000407775.2:c.1889C>T	p.Thr630Ile	p.T630I	ENST00000407775	NM_012082.3	630	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS47908.1	1889	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTGTCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	rs756076552	8/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.17)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Thr498Ile,ENST00000517361,;ZFPM2,missense_variant,p.Thr361Ile,ENST00000378472,;ZFPM2,missense_variant,p.Thr498Ile,ENST00000520492,;ZFPM2,missense_variant,p.Thr630Ile,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	2139	98	187	SUCCESS
GABBR2	9568	.	GRCh37	9	101340352	101340352	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs145095054	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	94	1	ENST00000259455.2:c.324C>T		p.X108_splice	ENST00000259455	NM_005458.7	108	tgC/tgT	0	A:0.0005	.	.	.	.	A	C	protein_coding	YES	CCDS6736.1	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCGCACTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34	.	A:0	ENSP00000259455	.	2/19	.	.	.	.	.	.	.	.	rs145095054	2/19	PASS	ENST00000259455	Transcript	.	.	ENSG00000136928	4507	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GABR2_HUMAN	GABBR2	HGNC	H9NIL8_HUMAN	.	UPI0000035832	SNV	GABBR2,synonymous_variant,p.%3D,ENST00000259455,;	784	95	100	SUCCESS
ALDOB	229	.	GRCh37	9	104193055	104193056	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CA	CA	-	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	45	0	ENST00000374855.4:c.112+2_112+3del		p.X38_splice	ENST00000374855	NM_000035.3	38		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6756.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TACACTCACCTAC	NONE	.	.	.	.	.	ENSP00000363988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374855	Transcript	.	.	ENSG00000136872	417	.	.	HIGH	2/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALDOB_HUMAN	ALDOB	HGNC	.	.	UPI000016A4A9	deletion	ALDOB,splice_donor_variant,,ENST00000374855,;ALDOB,upstream_gene_variant,,ENST00000468981,;	.	45	64	SUCCESS
MPDZ	8777	.	GRCh37	9	13126733	13126733	+	synonymous_variant	Silent	SNP	A	A	G	rs776038550	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	25	87	0	ENST00000319217.7:c.4503T>C	p.Asp1501=	p.D1501=	ENST00000319217	NM_001261406.1	1501	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS47951.1	4503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTATCTTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF10,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000439807	.	33/46	.	.	.	.	.	.	.	.	rs776038550	33/46	PASS	ENST00000541718	Transcript	.	.	ENSG00000107186	7208	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPDZ_HUMAN	MPDZ	HGNC	.	.	UPI00015367D3	SNV	MPDZ,synonymous_variant,p.%3D,ENST00000438511,;MPDZ,synonymous_variant,p.%3D,ENST00000381022,;MPDZ,synonymous_variant,p.%3D,ENST00000447879,;MPDZ,synonymous_variant,p.%3D,ENST00000545857,;MPDZ,synonymous_variant,p.%3D,ENST00000319217,;MPDZ,synonymous_variant,p.%3D,ENST00000546205,;MPDZ,synonymous_variant,p.%3D,ENST00000381015,;MPDZ,synonymous_variant,p.%3D,ENST00000536827,;MPDZ,synonymous_variant,p.%3D,ENST00000538841,;MPDZ,synonymous_variant,p.%3D,ENST00000541718,;MPDZ,5_prime_UTR_variant,,ENST00000541093,;MPDZ,3_prime_UTR_variant,,ENST00000535169,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,upstream_gene_variant,,ENST00000437441,;	4725	87	139	SUCCESS
PPRC1	23082	.	GRCh37	10	103909723	103909723	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	134	0	ENST00000278070.2:c.4932C>T	p.Ser1644=	p.S1644=	ENST00000278070	NM_015062.3	1644	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7529.1	4932	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCAAATT	NONE	.	.	hmmpanther:PTHR15528:SF5,hmmpanther:PTHR15528	.	.	ENSP00000278070	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000278070	Transcript	.	.	ENSG00000148840	30025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPRC1_HUMAN	PPRC1	HGNC	.	.	UPI000013DB5C	SNV	PPRC1,synonymous_variant,p.%3D,ENST00000413464,;PPRC1,synonymous_variant,p.%3D,ENST00000278070,;PPRC1,synonymous_variant,p.%3D,ENST00000370012,;NOLC1,upstream_gene_variant,,ENST00000476468,;NOLC1,upstream_gene_variant,,ENST00000461421,;NOLC1,upstream_gene_variant,,ENST00000370007,;NOLC1,upstream_gene_variant,,ENST00000605788,;NOLC1,upstream_gene_variant,,ENST00000488254,;NOLC1,upstream_gene_variant,,ENST00000603742,;NOLC1,upstream_gene_variant,,ENST00000405356,;PPRC1,downstream_gene_variant,,ENST00000495914,;PPRC1,downstream_gene_variant,,ENST00000489648,;NOLC1,upstream_gene_variant,,ENST00000603946,;NOLC1,upstream_gene_variant,,ENST00000464969,;	4971	134	61	SUCCESS
ADAM8	101	.	GRCh37	10	135082352	135082352	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	61	1	ENST00000445355.3:c.1963C>T	p.Pro655Ser	p.P655S	ENST00000445355	NM_001109.4	655	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31319.2	1963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGGGAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF20,hmmpanther:PTHR11905	.	.	ENSP00000453302	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000445355	Transcript	.	.	ENSG00000151651	215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	tolerated(0.84)	.	ADAM8_HUMAN	ADAM8	HGNC	.	.	UPI0001AE6E16	SNV	ADAM8,missense_variant,p.Pro590Ser,ENST00000485491,;ADAM8,missense_variant,p.Pro655Ser,ENST00000445355,;ADAM8,intron_variant,,ENST00000415217,;ADAM8,downstream_gene_variant,,ENST00000486609,;ADAM8,downstream_gene_variant,,ENST00000559180,;ADAM8,downstream_gene_variant,,ENST00000468964,;ADAM8,downstream_gene_variant,,ENST00000537099,;ADAM8,downstream_gene_variant,,ENST00000561175,;ADAM8,downstream_gene_variant,,ENST00000560135,;ADAM8,downstream_gene_variant,,ENST00000463298,;ADAM8,upstream_gene_variant,,ENST00000559018,;	2014	62	67	SUCCESS
HSPA14	51182	.	GRCh37	10	14890638	14890638	+	synonymous_variant	Silent	SNP	C	C	T	rs375004850	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	69	0	ENST00000378372.3:c.252C>T	p.Ile84=	p.I84=	ENST00000378372	NM_016299.3	84	atC/atT	0	G:0.0002	.	.	.	.	T	I	protein_coding	YES	CCDS7103.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATCGCGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF158,Pfam_domain:PF00012,Gene3D:3.30.30.30,Superfamily_domains:SSF53067	.	G:0	ENSP00000367623	.	4/14	.	.	.	.	.	.	.	.	rs375004850,COSM916598	4/14	PASS	ENST00000378372	Transcript	.	.	ENSG00000187522	29526	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HSP7E_HUMAN	HSPA14	HGNC	B4DYI5_HUMAN	.	UPI000013D6A8	SNV	HSPA14,synonymous_variant,p.%3D,ENST00000378372,;HSPA14,synonymous_variant,p.%3D,ENST00000441647,;HSPA14,downstream_gene_variant,,ENST00000437161,;HSPA14,upstream_gene_variant,,ENST00000470430,;	491	69	41	SUCCESS
FAM171A1	221061	.	GRCh37	10	15326009	15326009	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	132	0	ENST00000378116.4:c.193T>C	p.Ser65Pro	p.S65P	ENST00000378116	NM_001010924.1	65	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS31154.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGAGGCTA	NONE	.	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	.	ENSP00000367356	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	deleterious(0.01)	.	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,missense_variant,p.Ser65Pro,ENST00000378116,;FAM171A1,missense_variant,p.Ser65Pro,ENST00000455654,;	200	132	91	SUCCESS
KIAA1217	56243	.	GRCh37	10	24832874	24832874	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs137864034	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	43	1	ENST00000376454.3:c.4675G>T	p.Glu1559Ter	p.E1559*	ENST00000376454	NM_019590.3	1559	Gag/Tag	0	A:0	.	.	.	.	T	E/*	protein_coding	YES	CCDS31165.1	4675	MUTECT|SOMATICSNIPER|VARSCANS	.	AGGGTGAGGAC	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	A:0.0001	ENSP00000365637	.	19/21	.	.	.	.	.	.	.	.	rs137864034	19/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,stop_gained,p.Glu1559Ter,ENST00000376454,;KIAA1217,stop_gained,p.Glu1242Ter,ENST00000376451,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,;KIAA1217,intron_variant,,ENST00000396446,;KIAA1217,intron_variant,,ENST00000376452,;KIAA1217,intron_variant,,ENST00000376462,;KIAA1217,intron_variant,,ENST00000458595,;KIAA1217,downstream_gene_variant,,ENST00000492009,;	4705	44	42	SUCCESS
PRF1	5551	.	GRCh37	10	72357968	72357968	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	40	131	1	ENST00000373209.2:c.1509T>C	p.Ser503=	p.S503=	ENST00000373209		503	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7305.1	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCAGACTT	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF3,SMART_domains:SM00239	.	.	ENSP00000398568	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441259	Transcript	1	.	ENSG00000180644	9360	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERF_HUMAN	PRF1	HGNC	S5S2F2_HUMAN,S5RDP5_HUMAN	.	UPI000013162B	SNV	PRF1,synonymous_variant,p.%3D,ENST00000373209,;PRF1,synonymous_variant,p.%3D,ENST00000441259,;	1670	132	76	SUCCESS
CDH23	64072	.	GRCh37	10	73437280	73437280	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774145890	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	8	136	0	ENST00000224721.6:c.1597C>T	p.Arg533Cys	p.R533C	ENST00000224721	NM_022124.5	533	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	.	.	358	MUTECT|MUSE	.	TCCAGCGCTTC	NONE	byFrequency|byCluster	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000388894	.	4/17	.	.	.	.	.	.	.	.	rs774145890	4/17	PASS	ENST00000442677	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.885)	.	deleterious(0)	.	.	CDH23	HGNC	.	.	UPI0002B83372	SNV	CDH23,missense_variant,p.Arg120Cys,ENST00000442677,;CDH23,missense_variant,p.Arg339Cys,ENST00000466757,;CDH23,missense_variant,p.Arg533Cys,ENST00000224721,;CDH23,missense_variant,p.Arg573Cys,ENST00000299366,;	357	136	111	SUCCESS
TNKS2	80351	.	GRCh37	10	93558624	93558624	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	61	0	ENST00000371627.4:c.177C>T	p.Ser59=	p.S59=	ENST00000371627	NM_025235.3	59	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7417.1	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCACCCC	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000360689	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000371627	Transcript	.	.	ENSG00000107854	15677	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,synonymous_variant,p.%3D,ENST00000371627,;TNKS2-AS1,upstream_gene_variant,,ENST00000432246,;TNKS2-AS1,upstream_gene_variant,,ENST00000432938,;	556	61	57	SUCCESS
SIDT2	51092	.	GRCh37	11	117056884	117056884	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs761909276	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	41	157	1	ENST00000324225.4:c.907A>G	p.Ile303Val	p.I303V	ENST00000324225	NM_001040455.1	303	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31682.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTATATTT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16,Pfam_domain:PF13965	.	.	ENSP00000314023	.	9/26	.	.	.	.	.	.	.	.	rs761909276	9/26	PASS	ENST00000324225	Transcript	.	.	ENSG00000149577	24272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.52)	.	SIDT2_HUMAN	SIDT2	HGNC	G3V172_HUMAN,E9PPN9_HUMAN,E9PME7_HUMAN,E9PMC3_HUMAN	.	UPI000004BA68	SNV	SIDT2,missense_variant,p.Ile303Val,ENST00000324225,;SIDT2,missense_variant,p.Ile303Val,ENST00000278951,;SIDT2,missense_variant,p.Ile303Val,ENST00000431081,;SIDT2,missense_variant,p.Ile153Val,ENST00000524842,;SIDT2,downstream_gene_variant,,ENST00000532960,;SIDT2,downstream_gene_variant,,ENST00000531353,;SIDT2,intron_variant,,ENST00000525339,;SIDT2,downstream_gene_variant,,ENST00000530948,;SIDT2,non_coding_transcript_exon_variant,,ENST00000529441,;SIDT2,upstream_gene_variant,,ENST00000529484,;SIDT2,upstream_gene_variant,,ENST00000525065,;SIDT2,upstream_gene_variant,,ENST00000524988,;SIDT2,downstream_gene_variant,,ENST00000528397,;SIDT2,downstream_gene_variant,,ENST00000531255,;SIDT2,upstream_gene_variant,,ENST00000527654,;SIDT2,upstream_gene_variant,,ENST00000526813,;	1438	158	132	SUCCESS
CEP164	22897	.	GRCh37	11	117282631	117282631	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs774452782	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	140	0	ENST00000278935.3:c.4284G>T	p.Arg1428Ser	p.R1428S	ENST00000278935	NM_014956.4	1428	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS31683.1	4284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGTTGTA	NONE	.	.	hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8	.	.	ENSP00000278935	.	32/33	.	.	.	.	.	.	.	.	rs774452782	32/33	PASS	ENST00000278935	Transcript	.	.	ENSG00000110274	29182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0)	.	CE164_HUMAN	CEP164	HGNC	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN	.	UPI00001FA422	SNV	CEP164,missense_variant,p.Arg1428Ser,ENST00000278935,;CEP164,splice_region_variant,,ENST00000533706,;CEP164,splice_region_variant,,ENST00000533433,;CEP164,splice_region_variant,,ENST00000533675,;CEP164,splice_region_variant,,ENST00000528706,;CEP164,downstream_gene_variant,,ENST00000532187,;CEP164,downstream_gene_variant,,ENST00000533223,;	4431	140	112	SUCCESS
KMT2A	4297	.	GRCh37	11	118362558	118362558	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	87	0	ENST00000534358.1:c.4923del	p.Glu1642SerfsTer6	p.E1642Sfs*6	ENST00000534358	NM_005933.3	1640	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS55791.1	4919	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTTGAAAAAG	NONE	.	.	hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,SMART_domains:SM00297,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	deletion	KMT2A,frameshift_variant,p.Glu1639SerfsTer6,ENST00000389506,;KMT2A,frameshift_variant,p.Glu1601SerfsTer6,ENST00000354520,;KMT2A,frameshift_variant,p.Glu1642SerfsTer6,ENST00000534358,;KMT2A,frameshift_variant,p.Glu351SerfsTer6,ENST00000392873,;	4942	87	81	SUCCESS
DDX6	1656	.	GRCh37	11	118627983	118627983	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	110	1	ENST00000526070.2:c.1007A>T	p.Gln336Leu	p.Q336L	ENST00000526070	NM_001257191.1	336	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS44751.1	1007	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACTGGTTT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF214,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000264018	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000264018	Transcript	.	.	ENSG00000110367	2747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DDX6_HUMAN	DDX6	HGNC	B2R858_HUMAN	.	UPI000013D4A2	SNV	DDX6,missense_variant,p.Gln336Leu,ENST00000526070,;DDX6,missense_variant,p.Gln336Leu,ENST00000264018,;DDX6,missense_variant,p.Gln336Leu,ENST00000534980,;DDX6,non_coding_transcript_exon_variant,,ENST00000529162,;	1313	111	81	SUCCESS
MUC5B	727897	.	GRCh37	11	1266763	1266763	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	70	0	ENST00000529681.1:c.8653T>A	p.Tyr2885Asn	p.Y2885N	ENST00000529681	NM_002458.2	2885	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS44515.2	8653	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTACCCC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Tyr2885Asn,ENST00000529681,;MUC5B,missense_variant,p.Tyr2888Asn,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;	8711	70	69	SUCCESS
ANO5	203859	.	GRCh37	11	22272304	22272304	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs541372136	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	36	142	0	ENST00000324559.8:c.1031C>A	p.Pro344His	p.P344H	ENST00000324559	NM_001142649.1	344	cCt/cAt	0	.	G:0	.	G:0	.	A	P/H	protein_coding	YES	CCDS31444.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCTGAGA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547	G:0	.	ENSP00000315371	G:0	11/22	.	.	.	.	.	.	.	.	rs541372136	11/22	PASS	ENST00000324559	Transcript	.	G:0.0006	ENSG00000171714	27337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	G:0.0031	deleterious(0)	.	ANO5_HUMAN	ANO5	HGNC	.	.	UPI000035B19B	SNV	ANO5,missense_variant,p.Pro344His,ENST00000324559,;	1348	142	115	SUCCESS
ZNF195	7748	.	GRCh37	11	3381520	3381527	+	frameshift_variant	Frame_Shift_Del	DEL	CAGTATTA	CAGTATTA	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	CAGTATTA	CAGTATTA	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	50	0	ENST00000399602.4:c.711_718del	p.Ser237ArgfsTer22	p.S237Rfs*22	ENST00000399602	NM_001130520.2	237	agTAATACTGga/agga	0	.	.	.	.	.	-	SNTG/RX	protein_coding	YES	CCDS44522.1	711-718	INDELOCATOR*|PINDEL	.	TCTCTCCAGTATTACTTAT	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF87,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000382511	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000399602	Transcript	.	.	ENSG00000005801	12986	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN195_HUMAN	ZNF195	HGNC	.	.	UPI0000D6258D	deletion	ZNF195,frameshift_variant,p.Ser192ArgfsTer22,ENST00000528410,;ZNF195,frameshift_variant,p.Ser218ArgfsTer22,ENST00000526601,;ZNF195,frameshift_variant,p.Ser169ArgfsTer22,ENST00000429541,;ZNF195,frameshift_variant,p.Ser165ArgfsTer22,ENST00000354599,;ZNF195,frameshift_variant,p.Ser237ArgfsTer22,ENST00000399602,;ZNF195,frameshift_variant,p.Ser169ArgfsTer22,ENST00000343338,;ZNF195,frameshift_variant,p.Ser214ArgfsTer22,ENST00000005082,;ZNF195,3_prime_UTR_variant,,ENST00000438262,;ZNF195,intron_variant,,ENST00000528796,;ZNF195,downstream_gene_variant,,ENST00000529678,;ZNF195,downstream_gene_variant,,ENST00000534569,;ZNF195,downstream_gene_variant,,ENST00000533036,;ZNF195,downstream_gene_variant,,ENST00000427810,;ZNF195,downstream_gene_variant,,ENST00000528636,;ZNF195,downstream_gene_variant,,ENST00000524857,;ZNF195,downstream_gene_variant,,ENST00000330692,;ZNF195,3_prime_UTR_variant,,ENST00000528218,;ZNF195,downstream_gene_variant,,ENST00000530643,;ZNF195,downstream_gene_variant,,ENST00000526540,;ZNF195,downstream_gene_variant,,ENST00000529228,;ZNF195,downstream_gene_variant,,ENST00000526598,;ZNF195,downstream_gene_variant,,ENST00000529789,;ZNF195,downstream_gene_variant,,ENST00000525313,;	838-845	50	35	SUCCESS
OR52D1	390066	.	GRCh37	11	5510297	5510297	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	44	167	0	ENST00000322641.5:c.361A>T	p.Met121Leu	p.M121L	ENST00000322641	NM_001005163.2	121	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS31384.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATGGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF127,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000326232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322641	Transcript	.	.	ENSG00000181609	15212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	O52D1_HUMAN	OR52D1	HGNC	.	.	UPI0000041DD3	SNV	OR52D1,missense_variant,p.Met121Leu,ENST00000322641,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	383	167	162	SUCCESS
ACTN3	89	.	GRCh37	11	66322635	66322635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	121	0	ENST00000513398.1:c.592C>A	p.His198Asn	p.H198N	ENST00000513398	NM_001104.2	198	Cac/Aac	0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCACCGA	NONE	.	3702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000504911	Transcript	.	.	ENSG00000250105	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-3074O7.2	Clone_based_vega_gene	.	.	.	SNV	CTD-3074O7.2,downstream_gene_variant,,ENST00000504911,;ACTN3,downstream_gene_variant,,ENST00000511191,;ACTN3,missense_variant,p.His198Asn,ENST00000513398,;ACTN3,missense_variant,p.His241Asn,ENST00000502692,;	.	121	103	SUCCESS
ARRB1	408	.	GRCh37	11	74980004	74980004	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	116	0	ENST00000420843.2:c.1023-1G>A		p.X341_splice	ENST00000420843	NM_004041.4	341		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCGCTGAAA	NONE	.	.	.	.	.	ENSP00000409581	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420843	Transcript	.	.	ENSG00000137486	711	.	.	HIGH	13/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARRB1_HUMAN	ARRB1	HGNC	.	.	UPI0000126076	SNV	ARRB1,splice_acceptor_variant,,ENST00000532447,;ARRB1,splice_acceptor_variant,,ENST00000360025,;ARRB1,splice_acceptor_variant,,ENST00000420843,;ARRB1,missense_variant,p.Ser341Asn,ENST00000393505,;CTD-2562J17.9,downstream_gene_variant,,ENST00000529304,;ARRB1,downstream_gene_variant,,ENST00000531012,;ARRB1,downstream_gene_variant,,ENST00000529741,;	.	116	74	SUCCESS
SLC36A4	120103	.	GRCh37	11	92918881	92918881	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	80	0	ENST00000326402.4:c.155A>G	p.Gln52Arg	p.Q52R	ENST00000326402	NM_152313.2	52	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS8291.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTTGGTAA	NONE	.	.	hmmpanther:PTHR22950:SF190,hmmpanther:PTHR22950	.	.	ENSP00000317382	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000326402	Transcript	.	.	ENSG00000180773	19660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.89)	.	S36A4_HUMAN	SLC36A4	HGNC	E9PN09_HUMAN,E9PID7_HUMAN	.	UPI00001A8555	SNV	SLC36A4,missense_variant,p.Gln52Arg,ENST00000326402,;SLC36A4,5_prime_UTR_variant,,ENST00000529184,;SLC36A4,upstream_gene_variant,,ENST00000534116,;SLC36A4,missense_variant,p.Gln52Arg,ENST00000524875,;SLC36A4,non_coding_transcript_exon_variant,,ENST00000527743,;	286	80	57	SUCCESS
CLEC1B	51266	.	GRCh37	12	10147806	10147806	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs756289126	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	59	0	ENST00000298527.6:c.478G>T	p.Gly160Ter	p.G160*	ENST00000298527	NM_016509.3	160	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS41752.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCCGACCC	NONE	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF9,hmmpanther:PTHR22800,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000298527	.	5/6	.	.	.	.	.	.	.	.	rs756289126	5/6	PASS	ENST00000298527	Transcript	.	.	ENSG00000165682	24356	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC1B_HUMAN	CLEC1B	HGNC	.	.	UPI000013E4EA	SNV	CLEC1B,stop_gained,p.Gly127Ter,ENST00000348658,;CLEC1B,stop_gained,p.Gly160Ter,ENST00000298527,;CLEC1B,stop_gained,p.Gly127Ter,ENST00000428126,;CLEC1B,stop_gained,p.Gly67Ter,ENST00000398937,;CLEC12A,non_coding_transcript_exon_variant,,ENST00000449959,;	658	59	54	SUCCESS
CRY1	1407	.	GRCh37	12	107395609	107395609	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	91	1	ENST00000008527.5:c.528A>G	p.Glu176=	p.E176=	ENST00000008527	NM_004075.4	176	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS9112.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTTCTAT	NONE	.	.	Superfamily_domains:SSF52425,Gene3D:1.25.40.80,hmmpanther:PTHR11455:SF16,hmmpanther:PTHR11455	.	.	ENSP00000008527	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000008527	Transcript	.	.	ENSG00000008405	2384	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRY1_HUMAN	CRY1	HGNC	H0YHT0_HUMAN,A2I2P0_HUMAN	.	UPI0000073E80	SNV	CRY1,synonymous_variant,p.%3D,ENST00000008527,;CRY1,upstream_gene_variant,,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000546722,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;	1396	93	85	SUCCESS
KSR2	283455	.	GRCh37	12	118020092	118020092	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	rs751216370	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	26	110	0	ENST00000339824.5:c.1241+3A>C		p.X414_splice	ENST00000339824		414		0	.	.	.	.	.	G	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTACCTG	NONE	byFrequency	.	.	.	.	ENSP00000339952	.	.	.	.	.	.	.	.	.	.	rs751216370	.	PASS	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	LOW	6/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,splice_region_variant,,ENST00000425217,;KSR2,splice_region_variant,,ENST00000302438,;KSR2,splice_region_variant,,ENST00000339824,;KSR2,splice_region_variant,,ENST00000545002,;	.	110	111	SUCCESS
KRT85	3891	.	GRCh37	12	52760929	52760929	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	61	349	0	ENST00000257901.3:c.261G>A	p.Val87=	p.V87=	ENST00000257901	NM_002283.3	87	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8824.1	261	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCACACGCC	NONE	.	.	hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239	.	.	ENSP00000257901	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000257901	Transcript	.	.	ENSG00000135443	6462	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,synonymous_variant,p.%3D,ENST00000257901,;KRT85,upstream_gene_variant,,ENST00000544265,;KRT85,upstream_gene_variant,,ENST00000552537,;	337	349	307	SUCCESS
TMEM5	0	.	GRCh37	12	64174920	64174920	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	100	0	ENST00000261234.6:c.291T>A	p.Asp97Glu	p.D97E	ENST00000261234	NM_014254.2	97	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS8966.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATCTCAG	NONE	.	.	hmmpanther:PTHR15576,hmmpanther:PTHR15576:SF1	.	.	ENSP00000261234	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000261234	Transcript	.	.	ENSG00000118600	13530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.58)	.	TMEM5_HUMAN	TMEM5	HGNC	G3V1K2_HUMAN	.	UPI000006E0CE	SNV	TMEM5,missense_variant,p.Asp97Glu,ENST00000261234,;TMEM5,5_prime_UTR_variant,,ENST00000537373,;RP11-415I12.3,intron_variant,,ENST00000509615,;TMEM5,non_coding_transcript_exon_variant,,ENST00000537982,;TMEM5,upstream_gene_variant,,ENST00000535963,;TMEM5,missense_variant,p.Asp97Glu,ENST00000543342,;TMEM5,non_coding_transcript_exon_variant,,ENST00000536219,;	449	100	50	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85450892	85450892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	78	0	ENST00000393217.2:c.2321C>A	p.Pro774Gln	p.P774Q	ENST00000393217	NM_001079910.1	774	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS41816.1	2321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCAGCCA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	.	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Pro774Gln,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	2382	78	40	SUCCESS
PPP1R2P4	728970	.	GRCh37	13	47012005	47012005	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	117	0	ENST00000535073.1:n.321T>A		p.*107*	ENST00000535073				0	.	.	.	.	.	T	.	processed_pseudogene	YES	.	.	MUTECT|MUSE	.	TGCTCAGCTCC	NONE	.	.	.	.	.	.	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000535073	Transcript	.	.	ENSG00000241353	16319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PPP1R2P4	HGNC	.	.	.	SNV	KIAA0226L,5_prime_UTR_variant,,ENST00000409879,;PPP1R2P4,non_coding_transcript_exon_variant,,ENST00000535073,;PPP1R2P4,non_coding_transcript_exon_variant,,ENST00000424051,;	321	117	90	SUCCESS
SALL2	6297	.	GRCh37	14	21992350	21992350	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	64	0	ENST00000327430.3:c.1512A>T	p.Gly504=	p.G504=	ENST00000327430	NM_005407.1	504	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS32045.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGTCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233	.	.	ENSP00000333537	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327430	Transcript	.	.	ENSG00000165821	10526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL2_HUMAN	SALL2	HGNC	F5H1G6_HUMAN	.	UPI00001AF54D	SNV	SALL2,synonymous_variant,p.%3D,ENST00000450879,;SALL2,synonymous_variant,p.%3D,ENST00000327430,;SALL2,synonymous_variant,p.%3D,ENST00000546363,;SALL2,intron_variant,,ENST00000538754,;SALL2,intron_variant,,ENST00000317492,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	1807	64	58	SUCCESS
SOS2	6655	.	GRCh37	14	50655388	50655388	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs776470985	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	63	0	ENST00000216373.5:c.541A>T	p.Ile181Leu	p.I181L	ENST00000216373	NM_006939.2	181	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS9697.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTATGTCAT	NONE	.	.	hmmpanther:PTHR23113:SF150,hmmpanther:PTHR23113	.	.	ENSP00000216373	.	5/23	.	.	.	.	.	.	.	.	rs776470985	5/23	PASS	ENST00000216373	Transcript	.	.	ENSG00000100485	11188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.62)	.	SOS2_HUMAN	SOS2	HGNC	B4DJ05_HUMAN	.	UPI000013C6E8	SNV	SOS2,missense_variant,p.Ile181Leu,ENST00000543680,;SOS2,missense_variant,p.Ile181Leu,ENST00000216373,;SOS2,intron_variant,,ENST00000556469,;	816	63	50	SUCCESS
SPTB	6710	.	GRCh37	14	65260468	65260468	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs371216825	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	90	1	ENST00000389721.5:c.1913G>C	p.Arg638Pro	p.R638P	ENST00000389721	NM_000347.5	638	cGa/cCa	0	T:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS32099.1	1913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTCGTTTG	NONE	.	.	hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966	.	T:0.0001	ENSP00000374372	.	13/35	.	.	.	.	.	.	.	.	rs371216825,COSM1707463,COSM1707464	13/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.054)	.	deleterious(0)	0,1,1	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,missense_variant,p.Arg638Pro,ENST00000389721,;SPTB,missense_variant,p.Arg638Pro,ENST00000556626,;SPTB,missense_variant,p.Arg638Pro,ENST00000389722,;SPTB,missense_variant,p.Arg638Pro,ENST00000542895,;SPTB,missense_variant,p.Arg638Pro,ENST00000389720,;	1967	91	76	SUCCESS
SMEK1	0	.	GRCh37	14	91927921	91927921	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	13	137	1	ENST00000554943.1:c.2195T>A	p.Leu732Gln	p.L732Q	ENST00000554943		732	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS9895.1	2156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23318:SF3,hmmpanther:PTHR23318	.	.	ENSP00000450864	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	tolerated(0.19)	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,missense_variant,p.Leu719Gln,ENST00000554684,;SMEK1,missense_variant,p.Leu493Gln,ENST00000555462,;SMEK1,missense_variant,p.Leu493Gln,ENST00000428424,;SMEK1,missense_variant,p.Leu719Gln,ENST00000337238,;SMEK1,missense_variant,p.Leu732Gln,ENST00000554943,;SMEK1,non_coding_transcript_exon_variant,,ENST00000555718,;SMEK1,3_prime_UTR_variant,,ENST00000554308,;SMEK1,non_coding_transcript_exon_variant,,ENST00000557382,;SMEK1,downstream_gene_variant,,ENST00000554390,;	2653	138	81	SUCCESS
ATP10A	57194	.	GRCh37	15	25924784	25924784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	61	0	ENST00000356865.6:c.4204G>T	p.Val1402Phe	p.V1402F	ENST00000356865	NM_024490.3	1402	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS32178.1	4204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACAGCCT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43	.	.	ENSP00000349325	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated_low_confidence(0.09)	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,missense_variant,p.Val1402Phe,ENST00000356865,;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;	4316	61	43	SUCCESS
ATP10A	57194	.	GRCh37	15	25924785	25924785	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	63	0	ENST00000356865.6:c.4203T>G	p.Ala1401=	p.A1401=	ENST00000356865	NM_024490.3	1401	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS32178.1	4203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGCCTC	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43	.	.	ENSP00000349325	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000356865	Transcript	1	.	ENSG00000206190	13542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT10A_HUMAN	ATP10A	HGNC	.	.	UPI0000124FAB	SNV	ATP10A,synonymous_variant,p.%3D,ENST00000356865,;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;	4315	63	41	SUCCESS
CHRNA7	1139	.	GRCh37	15	32450652	32450652	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200236230	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	683	166	946	2	ENST00000306901.3:c.638G>A	p.Cys213Tyr	p.C213Y	ENST00000306901	NM_000746.5	213	tGc/tAc	0	.	A:0	.	A:0.0014	.	A	C/Y	protein_coding	YES	CCDS53924.1	725	RADIA|SOMATICSNIPER|VARSCANS	.	GTGCTGCAAAG	NONE	byCluster|by1000G	.	Superfamily_domains:0038932,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF480	A:0	.	ENSP00000407546	A:0	7/10	.	.	.	.	.	.	.	.	rs200236230	7/10	PASS	ENST00000454250	Transcript	1	A:0.0002	ENSG00000175344	1960	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	A:0	deleterious(0)	.	ACHA7_HUMAN	CHRNA7	HGNC	Q693P7_HUMAN	.	UPI0000E23BA6	SNV	CHRNA7,missense_variant,p.Cys242Tyr,ENST00000454250,;CHRNA7,missense_variant,p.Cys32Tyr,ENST00000455693,;CHRNA7,missense_variant,p.Cys213Tyr,ENST00000306901,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;	832	948	849	SUCCESS
C15orf26	0	.	GRCh37	15	81426689	81426689	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761777250	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	33	185	0	ENST00000286732.4:c.19G>T	p.Gly7Cys	p.G7C	ENST00000286732	NM_173528.2	7	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS42068.1	19	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATGGTCCG	NONE	.	.	hmmpanther:PTHR24274	.	.	ENSP00000286732	.	1/7	.	.	.	.	.	.	.	.	rs761777250	1/7	PASS	ENST00000286732	Transcript	.	.	ENSG00000156206	26782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.09)	.	CO026_HUMAN	C15orf26	HGNC	H0YNS7_HUMAN,H0YM05_HUMAN	.	UPI000022562F	SNV	C15orf26,missense_variant,p.Gly7Cys,ENST00000286732,;C15orf26,intron_variant,,ENST00000561216,;C15orf26,intron_variant,,ENST00000560091,;	102	185	191	SUCCESS
NOD2	64127	.	GRCh37	16	50750836	50750836	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	161	0	ENST00000300589.2:c.2581C>T	p.His861Tyr	p.H861Y	ENST00000300589	NM_022162.1	861	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10746.1	2581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACACTCC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000300589	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000300589	Transcript	.	.	ENSG00000167207	5331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.04)	.	NOD2_HUMAN	NOD2	HGNC	Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN	.	UPI000005027A	SNV	NOD2,missense_variant,p.His861Tyr,ENST00000300589,;NOD2,intron_variant,,ENST00000534057,;RP11-327F22.6,downstream_gene_variant,,ENST00000602304,;NOD2,intron_variant,,ENST00000524712,;NOD2,intron_variant,,ENST00000527052,;NOD2,intron_variant,,ENST00000529633,;NOD2,intron_variant,,ENST00000534067,;	2686	162	133	SUCCESS
ZNF469	84627	.	GRCh37	16	88500768	88500768	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1252226230	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	8	89	0	ENST00000437464.1:c.6806C>T	p.Ala2269Val	p.A2269V	ENST00000437464	NM_001127464.1	2269	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45544.1	6806	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCACAGG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ala2297Val,ENST00000565624,;ZNF469,missense_variant,p.Ala2269Val,ENST00000437464,;	6806	89	78	SUCCESS
DNAH9	1770	.	GRCh37	17	11593045	11593045	+	synonymous_variant	Silent	SNP	G	G	A	rs1249589880	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	192	1	ENST00000262442.4:c.3906G>A	p.Leu1302=	p.L1302=	ENST00000262442	NM_001372.3	1302	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11160.1	3906	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTGAAGGA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000262442	.	20/69	.	.	.	.	.	.	.	.	.	20/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;	3974	193	133	SUCCESS
DNAH9	1770	.	GRCh37	17	11597228	11597228	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	29	101	0	ENST00000262442.4:c.4658T>G	p.Leu1553Arg	p.L1553R	ENST00000262442	NM_001372.3	1553	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS11160.1	4658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCTAGCTT	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000262442	.	21/69	.	.	.	.	.	.	.	.	.	21/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Leu1553Arg,ENST00000454412,;DNAH9,missense_variant,p.Leu1553Arg,ENST00000262442,;	4726	101	51	SUCCESS
ZNF286A	57335	.	GRCh37	17	15619991	15619991	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	rs1421497314	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	52	240	0	ENST00000413242.2:c.953G>T	p.Arg318Ile	p.R318I	ENST00000413242		318	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS11172.1	953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGAATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF217,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000464218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000464847	Transcript	.	.	ENSG00000187607	13501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.19)	.	.	ZNF286A	Uniprot_gn	K7EQ88_HUMAN,A1A525_HUMAN	.	UPI000013C347	SNV	ZNF286A,missense_variant,p.Arg308Ile,ENST00000593105,;ZNF286A,missense_variant,p.Arg318Ile,ENST00000421016,;ZNF286A,missense_variant,p.Arg318Ile,ENST00000464847,;ZNF286A,missense_variant,p.Arg318Ile,ENST00000583566,;ZNF286A,3_prime_UTR_variant,,ENST00000395894,;ZNF286A,downstream_gene_variant,,ENST00000580393,;ZNF286A,downstream_gene_variant,,ENST00000580259,;ZNF286A,downstream_gene_variant,,ENST00000583031,;ZNF286A,downstream_gene_variant,,ENST00000585194,;ZNF286A,downstream_gene_variant,,ENST00000579694,;ZNF286A,downstream_gene_variant,,ENST00000581529,;ZNF286A,downstream_gene_variant,,ENST00000472486,;ZNF286A,intron_variant,,ENST00000583675,;ZNF286A,intron_variant,,ENST00000585171,;ZNF286A,downstream_gene_variant,,ENST00000580136,;ZNF286A,upstream_gene_variant,,ENST00000578920,;ZNF286A,missense_variant,p.Arg308Ile,ENST00000412988,;ZNF286A,missense_variant,p.Arg318Ile,ENST00000413242,;	1506	240	120	SUCCESS
KRTAP1-1	81851	.	GRCh37	17	39197352	39197352	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	35	164	0	ENST00000306271.4:c.298G>A	p.Gly100Ser	p.G100S	ENST00000306271	NM_030967.2	100	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS42324.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF45,hmmpanther:PTHR23262,Pfam_domain:PF01500	.	.	ENSP00000305975	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306271	Transcript	.	.	ENSG00000188581	16772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	KRA11_HUMAN	KRTAP1-1	HGNC	.	.	UPI000007191A	SNV	KRTAP1-1,missense_variant,p.Gly100Ser,ENST00000306271,;	362	164	138	SUCCESS
B4GALNT2	124872	.	GRCh37	17	47246920	47246920	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1284688144	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	48	0	ENST00000300404.2:c.1531G>T	p.Gly511Trp	p.G511W	ENST00000300404	NM_153446.2	511	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS11544.1	1531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGGGTCA	NONE	.	.	hmmpanther:PTHR15046:SF2,hmmpanther:PTHR15046,PIRSF_domain:PIRSF000474,Superfamily_domains:SSF53448	.	.	ENSP00000300404	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000300404	Transcript	.	.	ENSG00000167080	24136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	B4GN2_HUMAN	B4GALNT2	HGNC	Q8IVI2_HUMAN	.	UPI000013E655	SNV	B4GALNT2,missense_variant,p.Gly425Trp,ENST00000504681,;B4GALNT2,missense_variant,p.Gly511Trp,ENST00000300404,;B4GALNT2,missense_variant,p.Gly451Trp,ENST00000393354,;RP11-708H21.4,upstream_gene_variant,,ENST00000575159,;	1590	48	63	SUCCESS
TRIM37	4591	.	GRCh37	17	57093047	57093047	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	56	178	1	ENST00000262294.7:c.2500G>T	p.Asp834Tyr	p.D834Y	ENST00000262294	NM_015294.3	834	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS32694.1	2500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATCCAAAG	NONE	.	.	hmmpanther:PTHR24103:SF229,hmmpanther:PTHR24103	.	.	ENSP00000262294	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000262294	Transcript	.	.	ENSG00000108395	7523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.653)	.	deleterious_low_confidence(0.03)	.	TRI37_HUMAN	TRIM37	HGNC	B3KMU3_HUMAN,A8K0V9_HUMAN	.	UPI0000167B57	SNV	TRIM37,missense_variant,p.Asp800Tyr,ENST00000393065,;TRIM37,missense_variant,p.Asp834Tyr,ENST00000393066,;TRIM37,missense_variant,p.Asp712Tyr,ENST00000376149,;TRIM37,missense_variant,p.Asp834Tyr,ENST00000262294,;TRIM37,upstream_gene_variant,,ENST00000583945,;TRIM37,upstream_gene_variant,,ENST00000585287,;TRIM37,3_prime_UTR_variant,,ENST00000577554,;	2760	180	164	SUCCESS
SDK2	54549	.	GRCh37	17	71468282	71468282	+	synonymous_variant	Silent	SNP	C	C	T	rs758853512	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	67	1	ENST00000392650.3:c.300G>A	p.Leu100=	p.L100=	ENST00000392650	NM_001144952.1	100	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS45769.1	300	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCAGCAGGGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,SMART_domains:SM00409	.	.	ENSP00000376421	.	3/45	.	.	.	.	.	.	.	.	rs758853512	3/45	PASS	ENST00000392650	Transcript	.	.	ENSG00000069188	19308	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,synonymous_variant,p.%3D,ENST00000388726,;SDK2,synonymous_variant,p.%3D,ENST00000392650,;	301	69	80	SUCCESS
RNF213	57674	.	GRCh37	17	78319696	78319696	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1425008837	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	37	175	1	ENST00000582970.1:c.7561A>G	p.Ile2521Val	p.I2521V	ENST00000582970	NM_001256071.1	2521	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS58606.1	7561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTATAGCT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	29/68	.	.	.	.	.	.	.	.	.	29/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.817)	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Ile2521Val,ENST00000582970,;RNF213,missense_variant,p.Ile594Val,ENST00000336301,;RNF213,missense_variant,p.Ile2570Val,ENST00000508628,;	7704	176	140	SUCCESS
PODNL1	79883	.	GRCh37	19	14043535	14043538	+	frameshift_variant	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs1314367028	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	TGTT	TGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	80	23	112	0	ENST00000339560.5:c.1519_1522del	p.Asn507PhefsTer2	p.N507Ffs*2	ENST00000339560	NM_024825.3	507	AACAtt/tt	0	.	.	.	.	.	-	NI/X	protein_coding	YES	CCDS12300.1	1519-1522	INDELOCATOR*|VARSCANI*|PINDEL	.	CTAGAATGTTTGGGA	NONE	.	.	.	.	.	ENSP00000345175	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000339560	Transcript	.	.	ENSG00000132000	26275	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PONL1_HUMAN	PODNL1	HGNC	.	.	UPI0000366D47	deletion	PODNL1,frameshift_variant,p.Asn416PhefsTer2,ENST00000538517,;PODNL1,frameshift_variant,p.Asn507PhefsTer2,ENST00000339560,;PODNL1,frameshift_variant,p.Asn425PhefsTer2,ENST00000254320,;PODNL1,frameshift_variant,p.Asn505PhefsTer2,ENST00000538371,;PODNL1,intron_variant,,ENST00000587954,;PODNL1,intron_variant,,ENST00000588872,;CC2D1A,downstream_gene_variant,,ENST00000589606,;PODNL1,downstream_gene_variant,,ENST00000588764,;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,downstream_gene_variant,,ENST00000586075,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,downstream_gene_variant,,ENST00000585607,;PODNL1,downstream_gene_variant,,ENST00000591353,;CC2D1A,downstream_gene_variant,,ENST00000318003,;PODNL1,downstream_gene_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;CC2D1A,downstream_gene_variant,,ENST00000589138,;	1793-1796	112	103	SUCCESS
CLEC17A	388512	.	GRCh37	19	14720955	14720955	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	87	0	ENST00000417570.1:c.1084C>G	p.Leu362Val	p.L362V	ENST00000417570	NM_001204118.1	362	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS56087.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTCTCT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF214,hmmpanther:PTHR22802,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000393719	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000417570	Transcript	.	.	ENSG00000187912	34520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.19)	.	CL17A_HUMAN	CLEC17A	HGNC	.	.	UPI0001747A7C	SNV	CLEC17A,missense_variant,p.Leu362Val,ENST00000417570,;CLEC17A,3_prime_UTR_variant,,ENST00000397439,;CLEC17A,3_prime_UTR_variant,,ENST00000547437,;CLEC17A,3_prime_UTR_variant,,ENST00000339847,;CLEC17A,3_prime_UTR_variant,,ENST00000551730,;	1122	87	81	SUCCESS
NWD1	284434	.	GRCh37	19	16918939	16918939	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	98	0	ENST00000552788.1:c.4279A>G	p.Ser1427Gly	p.S1427G	ENST00000552788		1427	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS32945.2	4279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGAGCTAC	NONE	.	.	hmmpanther:PTHR22847:SF273,hmmpanther:PTHR22847	.	.	ENSP00000428579	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000524140	Transcript	.	.	ENSG00000188039	27619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.35)	.	NWD1_HUMAN	NWD1	HGNC	.	.	UPI0000D6173E	SNV	NWD1,missense_variant,p.Ser1292Gly,ENST00000339803,;NWD1,missense_variant,p.Ser1427Gly,ENST00000524140,;NWD1,missense_variant,p.Ser1427Gly,ENST00000552788,;NWD1,missense_variant,p.Ser1427Gly,ENST00000379808,;NWD1,missense_variant,p.Ser1385Gly,ENST00000549814,;NWD1,missense_variant,p.Ser1221Gly,ENST00000523826,;NWD1,3_prime_UTR_variant,,ENST00000438489,;NWD1,3_prime_UTR_variant,,ENST00000518676,;	4697	98	82	SUCCESS
ZNF781	163115	.	GRCh37	19	38161062	38161062	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	101	0	ENST00000358582.4:c.-13C>G		p.*5*	ENST00000358582	NM_152605.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12507.1	.	RADIA|MUTECT|MUSE	.	TGTCTGATGTT	NONE	.	.	.	.	.	ENSP00000351391	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358582	Transcript	.	.	ENSG00000196381	26745	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN781_HUMAN	ZNF781	HGNC	.	.	UPI0000351D6C	SNV	ZNF781,5_prime_UTR_variant,,ENST00000590008,;ZNF781,5_prime_UTR_variant,,ENST00000358582,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000589676,;ZFP30,intron_variant,,ENST00000586732,;ZNF781,downstream_gene_variant,,ENST00000593040,;	737	101	74	SUCCESS
RYR1	6261	.	GRCh37	19	38986916	38986965	+	frameshift_variant	Frame_Shift_Del	DEL	CACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTC	CACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTC	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	CACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTC	CACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	75	29	80	0	ENST00000359596.3:c.6612_6661del	p.His2204GlnfsTer32	p.H2204Qfs*32	ENST00000359596		2204	CACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCc/c	0	.	.	.	.	.	-	HETVMEVMVNVLGGGES/X	protein_coding	YES	CCDS33011.1	6610-6659	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000352608	.	40/106	.	.	.	.	.	.	.	.	.	40/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	deletion	RYR1,frameshift_variant,p.His2204GlnfsTer32,ENST00000355481,;RYR1,frameshift_variant,p.His2204GlnfsTer32,ENST00000360985,;RYR1,frameshift_variant,p.His2204GlnfsTer32,ENST00000359596,;RYR1,frameshift_variant,p.His22GlnfsTer32,ENST00000594335,;	6610-6659	80	104	SUCCESS
EXOSC5	56915	.	GRCh37	19	41892629	41892629	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	33	0	ENST00000221233.4:c.617T>C	p.Leu206Pro	p.L206P	ENST00000221233	NM_020158.3	206	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS12580.1	617	MUTECT|MUSE	.	GCTGGAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11953:SF1,hmmpanther:PTHR11953,Pfam_domain:PF03725,Gene3D:1e3hA01,Superfamily_domains:SSF55666	.	.	ENSP00000221233	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000221233	Transcript	.	.	ENSG00000077348	24662	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0.01)	.	EXOS5_HUMAN	EXOSC5	HGNC	.	.	UPI0000134940	SNV	EXOSC5,missense_variant,p.Leu168Pro,ENST00000596905,;EXOSC5,missense_variant,p.Leu206Pro,ENST00000221233,;EXOSC5,intron_variant,,ENST00000602129,;BCKDHA,intron_variant,,ENST00000595085,;CTC-435M10.3,intron_variant,,ENST00000540732,;TMEM91,downstream_gene_variant,,ENST00000546362,;TMEM91,downstream_gene_variant,,ENST00000413014,;TMEM91,downstream_gene_variant,,ENST00000535712,;TMEM91,downstream_gene_variant,,ENST00000447302,;TMEM91,downstream_gene_variant,,ENST00000356385,;TMEM91,downstream_gene_variant,,ENST00000342187,;TMEM91,downstream_gene_variant,,ENST00000544232,;TMEM91,downstream_gene_variant,,ENST00000537354,;TMEM91,downstream_gene_variant,,ENST00000604123,;TMEM91,downstream_gene_variant,,ENST00000542945,;TMEM91,downstream_gene_variant,,ENST00000546050,;TMEM91,downstream_gene_variant,,ENST00000436170,;TMEM91,downstream_gene_variant,,ENST00000392002,;TMEM91,downstream_gene_variant,,ENST00000539627,;CTC-435M10.3,intron_variant,,ENST00000604424,;EXOSC5,downstream_gene_variant,,ENST00000593523,;	768	33	34	SUCCESS
ANKRD24	170961	.	GRCh37	19	4219685	4219685	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1201577783	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	34	139	0	ENST00000318934.4:c.3101C>T	p.Ala1034Val	p.A1034V	ENST00000318934		1034	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45925.1	3101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGCGGAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8	.	.	ENSP00000471252	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000600132	Transcript	.	.	ENSG00000089847	29424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	tolerated(0.06)	.	ANR24_HUMAN	ANKRD24	HGNC	.	.	UPI000041F5A9	SNV	ANKRD24,missense_variant,p.Ala1124Val,ENST00000262970,;ANKRD24,missense_variant,p.Ala1034Val,ENST00000600132,;ANKRD24,missense_variant,p.Ala1034Val,ENST00000318934,;ANKRD24,downstream_gene_variant,,ENST00000597689,;ANKRD24,downstream_gene_variant,,ENST00000595096,;	3377	139	111	SUCCESS
CEACAM3	1084	.	GRCh37	19	42300619	42300619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	88	0	ENST00000357396.3:c.10C>A	p.Pro4Thr	p.P4T	ENST00000357396	NM_001815.3	4	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS12586.2	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCCCTCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955	.	.	ENSP00000349971	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0.01)	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,missense_variant,p.Pro4Thr,ENST00000357396,;CEACAM3,missense_variant,p.Pro4Thr,ENST00000344550,;CEACAM3,missense_variant,p.Pro4Thr,ENST00000221999,;CEACAM3,upstream_gene_variant,,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,missense_variant,p.Pro4Thr,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;	251	88	65	SUCCESS
TMEM145	284339	.	GRCh37	19	42827878	42827878	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	23	186	0	ENST00000301204.3:c.1338G>C	p.Thr446=	p.T446=	ENST00000301204	NM_173633.2	446	acG/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS12603.1	1338	RADIA|MUTECT|MUSE|VARSCANS	.	GTGACGTTTAT	NONE	.	.	hmmpanther:PTHR23252,hmmpanther:PTHR23252:SF24	.	.	ENSP00000301204	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000301204	Transcript	.	.	ENSG00000167619	26912	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM145_HUMAN	TMEM145	HGNC	.	.	UPI000013E6E6	SNV	TMEM145,synonymous_variant,p.%3D,ENST00000301204,;TMEM145,downstream_gene_variant,,ENST00000598766,;TMEM145,downstream_gene_variant,,ENST00000601644,;MEGF8,upstream_gene_variant,,ENST00000334370,;MEGF8,upstream_gene_variant,,ENST00000251268,;	1379	186	169	SUCCESS
MEGF8	1954	.	GRCh37	19	42858165	42858165	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	36	0	ENST00000251268.6:c.4000del	p.Thr1334ProfsTer5	p.T1334Pfs*5	ENST00000251268		1334	Acc/cc	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS12604.2	3799	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAGCACCCCC	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10574:SF241,hmmpanther:PTHR10574	.	.	ENSP00000334219	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	deletion	MEGF8,frameshift_variant,p.Thr1267ProfsTer5,ENST00000334370,;MEGF8,frameshift_variant,p.Thr1334ProfsTer5,ENST00000251268,;MEGF8,downstream_gene_variant,,ENST00000593840,;	4434	36	60	SUCCESS
PSG11	5680	.	GRCh37	19	43523032	43523032	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751169576	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	45	165	0	ENST00000320078.7:c.599G>T	p.Arg200Met	p.R200M	ENST00000320078	NM_002785.2	200	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS12614.2	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCTGTTG	BUFFER|p.F203L|c.607T>C|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF108,PROSITE_profiles:PS50835	.	.	ENSP00000384995	.	3/6	.	.	.	.	.	.	.	.	rs751169576	3/6	PASS	ENST00000401740	Transcript	.	.	ENSG00000243130	9516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	PSG11_HUMAN	PSG11	HGNC	.	.	UPI000004EE8C	SNV	PSG11,missense_variant,p.Arg78Met,ENST00000306322,;PSG11,missense_variant,p.Arg200Met,ENST00000401740,;PSG11,missense_variant,p.Arg78Met,ENST00000403486,;PSG11,missense_variant,p.Arg200Met,ENST00000320078,;PSG11,intron_variant,,ENST00000598133,;PSG11,non_coding_transcript_exon_variant,,ENST00000595312,;PSG11,upstream_gene_variant,,ENST00000599976,;PSG11,3_prime_UTR_variant,,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000597093,;PSG11,non_coding_transcript_exon_variant,,ENST00000488205,;PSG11,intron_variant,,ENST00000595138,;PSG11,intron_variant,,ENST00000594655,;	703	165	144	SUCCESS
GYS1	2997	.	GRCh37	19	49472819	49472819	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	37	0	ENST00000323798.3:c.1940C>T	p.Ser647Leu	p.S647L	ENST00000323798	NM_002103.4	647	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS12747.1	1940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGAGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF2,Pfam_domain:PF05693	.	.	ENSP00000317904	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000323798	Transcript	1	.	ENSG00000104812	4706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.265)	.	tolerated(0.09)	.	GYS1_HUMAN	GYS1	HGNC	F5H1N8_HUMAN	.	UPI0000000C44	SNV	GYS1,missense_variant,p.Ser280Leu,ENST00000544287,;GYS1,missense_variant,p.Ser583Leu,ENST00000263276,;GYS1,missense_variant,p.Ser647Leu,ENST00000323798,;GYS1,missense_variant,p.Ser567Leu,ENST00000541188,;FTL,downstream_gene_variant,,ENST00000331825,;GYS1,downstream_gene_variant,,ENST00000594220,;CTD-2639E6.9,downstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,downstream_gene_variant,,ENST00000594305,;GYS1,downstream_gene_variant,,ENST00000496048,;GYS1,downstream_gene_variant,,ENST00000472004,;	2137	37	29	SUCCESS
KLK11	11012	.	GRCh37	19	51528911	51528911	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs532923427	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	92	0	ENST00000594768.1:c.73G>T	p.Ala25Ser	p.A25S	ENST00000594768	NM_144947.1	25	Gcc/Tcc	0	.	T:0	.	T:0	.	A	A/S	protein_coding	YES	CCDS12818.1	73	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGCCCCAG	NONE	by1000G	.	hmmpanther:PTHR24275:SF13,hmmpanther:PTHR24275	T:0	.	ENSP00000473047	T:0	2/6	.	.	.	.	.	.	.	.	rs532923427	2/6	PASS	ENST00000594768	Transcript	.	T:0.0002	ENSG00000167757	6359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	T:0.001	tolerated_low_confidence(0.1)	.	KLK11_HUMAN	KLK11	HGNC	M0QZV0_HUMAN,M0QZI8_HUMAN	.	UPI000002ACDC	SNV	KLK11,missense_variant,p.Ala25Ser,ENST00000594768,;KLK11,5_prime_UTR_variant,,ENST00000319720,;KLK11,5_prime_UTR_variant,,ENST00000453757,;KLK11,5_prime_UTR_variant,,ENST00000600362,;KLK11,5_prime_UTR_variant,,ENST00000601671,;KLK11,5_prime_UTR_variant,,ENST00000391804,;KLK11,5_prime_UTR_variant,,ENST00000598799,;KLK12,downstream_gene_variant,,ENST00000525263,;KLK12,downstream_gene_variant,,ENST00000250352,;KLK12,downstream_gene_variant,,ENST00000529888,;KLK12,downstream_gene_variant,,ENST00000250351,;KLK11,upstream_gene_variant,,ENST00000593681,;KLK12,downstream_gene_variant,,ENST00000319590,;CTC-518B2.9,upstream_gene_variant,,ENST00000594910,;KLK11,non_coding_transcript_exon_variant,,ENST00000594458,;KLK11,missense_variant,p.Ala25Ser,ENST00000319756,;KLK11,non_coding_transcript_exon_variant,,ENST00000594827,;KLK12,downstream_gene_variant,,ENST00000530943,;KLK12,downstream_gene_variant,,ENST00000531374,;KLK12,downstream_gene_variant,,ENST00000526824,;	259	93	81	SUCCESS
MIR372	442917	.	GRCh37	19	54291196	54291196	+	mature_miRNA_variant	RNA	SNP	A	A	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	50	0	ENST00000362225.1:n.53A>C		p.*18*	ENST00000362225				0	.	.	.	.	.	C	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGACATTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000362225	Transcript	.	.	ENSG00000199095	31786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR372	HGNC	.	.	.	SNV	MIR372,mature_miRNA_variant,,ENST00000362225,;MIR371B,non_coding_transcript_exon_variant,,ENST00000595160,;MIR373,upstream_gene_variant,,ENST00000362273,;MIR371A,downstream_gene_variant,,ENST00000362161,;AC008753.4,upstream_gene_variant,,ENST00000597420,;	53	50	51	SUCCESS
LILRA4	23547	.	GRCh37	19	54850148	54850148	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs181991337	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	29	125	0	ENST00000291759.4:c.59G>T	p.Arg20Leu	p.R20L	ENST00000291759	NM_012276.3	20	cGg/cTg	0	T:0	T:0	.	T:0.0014	.	A	R/L	protein_coding	YES	CCDS12890.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCGGGTC	NONE	byCluster|by1000G	.	PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF98,Cleavage_site_(Signalp):SignalP-noTM	T:0	T:0.0001	ENSP00000291759	T:0	2/8	.	.	.	.	.	.	.	.	rs181991337	2/8	PASS	ENST00000291759	Transcript	.	T:0.0002	ENSG00000239961	15503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0	tolerated(0.61)	.	LIRA4_HUMAN	LILRA4	HGNC	.	.	UPI0000202BCD	SNV	LILRA4,missense_variant,p.Arg20Leu,ENST00000291759,;AC008984.2,upstream_gene_variant,,ENST00000507363,;LILRA4,non_coding_transcript_exon_variant,,ENST00000421056,;LILRA4,upstream_gene_variant,,ENST00000595581,;	116	125	97	SUCCESS
GZMM	3004	.	GRCh37	19	549779	549779	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	69	0	ENST00000264553.3:c.762C>G	p.Gly254=	p.G254=	ENST00000264553	NM_001258351.1	254	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS12031.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGGCCGATC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF33,Superfamily_domains:SSF50494	.	.	ENSP00000264553	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264553	Transcript	.	.	ENSG00000197540	4712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAM_HUMAN	GZMM	HGNC	.	.	UPI000013D531	SNV	GZMM,synonymous_variant,p.%3D,ENST00000264553,;GZMM,downstream_gene_variant,,ENST00000592501,;	800	69	40	SUCCESS
SAFB2	9667	.	GRCh37	19	5621381	5621381	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	4	101	0	ENST00000252542.4:c.213T>C	p.Pro71=	p.P71=	ENST00000252542	NM_014649.2	71	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32879.1	213	MUTECT|MUSE	.	TCATCAGGATC	NONE	.	.	hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4,Gene3D:1.10.720.30	.	.	ENSP00000252542	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000252542	Transcript	.	.	ENSG00000130254	21605	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAFB2_HUMAN	SAFB2	HGNC	.	.	UPI0000071DB7	SNV	SAFB2,synonymous_variant,p.%3D,ENST00000252542,;SAFB2,5_prime_UTR_variant,,ENST00000590262,;SAFB,upstream_gene_variant,,ENST00000588852,;SAFB,upstream_gene_variant,,ENST00000454510,;SAFB,upstream_gene_variant,,ENST00000292123,;SAFB,upstream_gene_variant,,ENST00000538656,;SAFB,upstream_gene_variant,,ENST00000433404,;SAFB,upstream_gene_variant,,ENST00000592224,;SAFB,upstream_gene_variant,,ENST00000586934,;SAFB2,synonymous_variant,p.%3D,ENST00000591120,;SAFB,upstream_gene_variant,,ENST00000589863,;SAFB,upstream_gene_variant,,ENST00000591666,;	478	101	89	SUCCESS
NLRP9	338321	.	GRCh37	19	56241199	56241199	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	82	0	ENST00000332836.2:c.1992C>T		p.X664_splice	ENST00000332836	NM_176820.2	664	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12934.1	1992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATGAGTTT	NONE	.	.	hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000331857	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000332836	Transcript	.	.	ENSG00000185792	22941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP9_HUMAN	NLRP9	HGNC	.	.	UPI00001B6B39	SNV	NLRP9,synonymous_variant,p.%3D,ENST00000332836,;NLRP9,synonymous_variant,p.%3D,ENST00000590200,;	2020	82	66	SUCCESS
NLRP13	126204	.	GRCh37	19	56416366	56416366	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201367180	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	37	169	0	ENST00000342929.3:c.2560G>T	p.Gly854Cys	p.G854C	ENST00000342929	NM_176810.2	854	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33119.1	2560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCCATCAT	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000343891	.	8/11	.	.	.	.	.	.	.	.	rs201367180,COSM3539745	8/11	PASS	ENST00000342929	Transcript	.	.	ENSG00000173572	22937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.513)	.	deleterious(0.02)	0,1	NAL13_HUMAN	NLRP13	HGNC	.	.	UPI00001AEEC8	SNV	NLRP13,missense_variant,p.Gly854Cys,ENST00000588751,;NLRP13,missense_variant,p.Gly854Cys,ENST00000342929,;	2560	169	145	SUCCESS
CASZ1	54897	.	GRCh37	1	10713785	10713785	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	80	0	ENST00000377022.3:c.2329C>T	p.Pro777Ser	p.P777S	ENST00000377022	NM_001079843.2	777	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41246.1	2329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGCAGCA	NONE	.	.	hmmpanther:PTHR12451	.	.	ENSP00000366221	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000377022	Transcript	.	.	ENSG00000130940	26002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	CASZ1_HUMAN	CASZ1	HGNC	.	.	UPI0000EBB7D6	SNV	CASZ1,missense_variant,p.Pro777Ser,ENST00000344008,;CASZ1,missense_variant,p.Pro777Ser,ENST00000377022,;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;	2647	80	50	SUCCESS
KCNA2	3737	.	GRCh37	1	111147065	111147065	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1271481592	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	74	0	ENST00000316361.4:c.340C>T	p.Arg114Trp	p.R114W	ENST00000316361	NM_004974.3	114	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS827.1	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCGAATTT	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF02214,Gene3D:3.30.710.10,hmmpanther:PTHR11537:SF23,hmmpanther:PTHR11537	.	.	ENSP00000433109	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000485317	Transcript	.	.	ENSG00000177301	6220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNA2_HUMAN	KCNA2	HGNC	.	.	UPI00001279A1	SNV	KCNA2,missense_variant,p.Arg114Trp,ENST00000440270,;KCNA2,missense_variant,p.Arg114Trp,ENST00000485317,;KCNA2,missense_variant,p.Arg114Trp,ENST00000316361,;KCNA2,missense_variant,p.Arg114Trp,ENST00000369770,;KCNA2,intron_variant,,ENST00000525120,;	1014	74	43	SUCCESS
NES	10763	.	GRCh37	1	156641173	156641173	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	66	0	ENST00000368223.3:c.2807A>T	p.Glu936Val	p.E936V	ENST00000368223	NM_006617.1	936	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS1151.1	2807	MUTECT|MUSE	.	CCTCCTCCAGA	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.215)	.	deleterious(0)	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,missense_variant,p.Glu936Val,ENST00000368223,;	2940	66	103	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576234	158576234	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	34	84	0	ENST00000361284.1:c.6G>T	p.Gly2=	p.G2=	ENST00000361284	NM_001004478.1	2	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30901.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGCAGAC	NONE	.	.	hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,synonymous_variant,p.%3D,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	6	84	65	SUCCESS
CD244	51744	.	GRCh37	1	160806007	160806007	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1218239896	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	91	0	ENST00000368033.3:c.887T>C	p.Ile296Thr	p.I296T	ENST00000368033		296	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS53399.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGATGGTG	NONE	.	.	hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF3	.	.	ENSP00000357012	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000368033	Transcript	.	.	ENSG00000122223	18171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.04)	.	CD244_HUMAN	CD244	HGNC	.	.	UPI0000367808	SNV	CD244,missense_variant,p.Ile199Thr,ENST00000322302,;CD244,missense_variant,p.Ile291Thr,ENST00000368032,;CD244,missense_variant,p.Ile296Thr,ENST00000368033,;CD244,missense_variant,p.Ile291Thr,ENST00000368034,;CD244,intron_variant,,ENST00000481677,;CD244,missense_variant,p.Ile291Thr,ENST00000492063,;	970	91	87	SUCCESS
CLCNKA	1187	.	GRCh37	1	16351300	16351300	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	22	81	1	ENST00000331433.4:c.272T>G	p.Leu91Arg	p.L91R	ENST00000331433		91	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS167.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTCCGGT	NONE	.	.	hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Gene3D:1otsB00,Superfamily_domains:SSF81340	.	.	ENSP00000332771	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000331433	Transcript	.	.	ENSG00000186510	2026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	CLCKA_HUMAN	CLCNKA	HGNC	.	.	UPI0000127993	SNV	CLCNKA,missense_variant,p.Leu91Arg,ENST00000420078,;CLCNKA,missense_variant,p.Leu91Arg,ENST00000331433,;CLCNKA,missense_variant,p.Leu91Arg,ENST00000375692,;CLCNKA,intron_variant,,ENST00000439316,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000495784,;CLCNKA,intron_variant,,ENST00000464764,;CLCNKA,upstream_gene_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000477360,;	291	82	91	SUCCESS
TMCO1	54499	.	GRCh37	1	165738099	165738099	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	43	1	ENST00000392129.6:c.-111G>A		p.*37*	ENST00000392129	NM_019026.4	15		0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS1251.2	43	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCAACTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000356856	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000367881	Transcript	.	.	ENSG00000143183	18188	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.934)	.	deleterious_low_confidence(0)	.	.	TMCO1	HGNC	J9JIE6_HUMAN,J3QQY2_HUMAN	.	UPI0000EE3C5A	SNV	TMCO1,missense_variant,p.Gly15Ser,ENST00000367881,;TMCO1,5_prime_UTR_variant,,ENST00000392129,;TMCO1,5_prime_UTR_variant,,ENST00000464650,;TMCO1,intron_variant,,ENST00000580248,;TMCO1,upstream_gene_variant,,ENST00000481278,;RP11-466F5.8,upstream_gene_variant,,ENST00000423121,;TMCO1,missense_variant,p.Gly10Ser,ENST00000476143,;TMCO1,missense_variant,p.Gly15Ser,ENST00000465705,;	319	44	61	SUCCESS
DCAF6	55827	.	GRCh37	1	167962525	167962525	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	34	138	0	ENST00000312263.6:c.750del	p.Asn250LysfsTer7	p.N250Kfs*7	ENST00000312263	NM_001017977.2	250	aaT/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS55657.1	750	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTTAATAATAA	NONE	.	.	hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356814	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	deletion	DCAF6,frameshift_variant,p.Asn219LysfsTer7,ENST00000432587,;DCAF6,frameshift_variant,p.Asn250LysfsTer7,ENST00000367840,;DCAF6,frameshift_variant,p.Asn250LysfsTer7,ENST00000312263,;DCAF6,frameshift_variant,p.Asn250LysfsTer7,ENST00000367843,;DCAF6,non_coding_transcript_exon_variant,,ENST00000455334,;DCAF6,downstream_gene_variant,,ENST00000470919,;DCAF6,downstream_gene_variant,,ENST00000491067,;DCAF6,frameshift_variant,p.Asn250LysfsTer7,ENST00000470721,;	844	138	176	SUCCESS
FMO3	2328	.	GRCh37	1	171070949	171070949	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	35	0	ENST00000367755.4:c.133-1977T>G		p.*45*	ENST00000367755	NM_001002294.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTTTTCT	NONE	.	.	.	.	.	ENSP00000356729	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367755	Transcript	.	.	ENSG00000007933	3771	.	.	MODIFIER	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMO3_HUMAN	FMO3	HGNC	.	.	UPI000016A103	SNV	FMO3,intron_variant,,ENST00000392085,;FMO3,intron_variant,,ENST00000367755,;FMO3,intron_variant,,ENST00000538429,;FMO3,intron_variant,,ENST00000479749,;FMO3,intron_variant,,ENST00000542847,;MIR1295A,upstream_gene_variant,,ENST00000408463,;FMO3,intron_variant,,ENST00000478457,;FMO3,downstream_gene_variant,,ENST00000530212,;FMO3,downstream_gene_variant,,ENST00000534514,;FMO3,intron_variant,,ENST00000472784,;	.	35	22	SUCCESS
TNR	7143	.	GRCh37	1	175299224	175299224	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1449296576	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	83	0	ENST00000263525.2:c.3779A>G	p.Tyr1260Cys	p.Y1260C	ENST00000263525	NM_003285.2	1260	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1318.1	3779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTGTAGCTT	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000356646	.	21/23	.	.	.	.	.	.	.	.	COSM899918	21/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Tyr1260Cys,ENST00000367674,;TNR,missense_variant,p.Tyr1260Cys,ENST00000263525,;RP3-518E13.2,intron_variant,,ENST00000569593,;	4488	83	94	SUCCESS
EDEM3	80267	.	GRCh37	1	184702094	184702094	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	76	0	ENST00000318130.8:c.489C>A	p.Ile163=	p.I163=	ENST00000318130	NM_025191.3	163	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1363.2	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATGATTGC	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF30,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000318147	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000318130	Transcript	.	.	ENSG00000116406	16787	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDEM3_HUMAN	EDEM3	HGNC	Q7L2Y5_HUMAN,H0Y498_HUMAN	.	UPI0000470A2B	SNV	EDEM3,synonymous_variant,p.%3D,ENST00000367512,;EDEM3,synonymous_variant,p.%3D,ENST00000318130,;EDEM3,non_coding_transcript_exon_variant,,ENST00000474725,;EDEM3,non_coding_transcript_exon_variant,,ENST00000466606,;	756	76	68	SUCCESS
BRINP3	339479	.	GRCh37	1	190195248	190195248	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	66	0	ENST00000367462.3:c.925A>C	p.Thr309Pro	p.T309P	ENST00000367462	NM_199051.1	309	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS1373.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTTTCAG	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	tolerated(0.1)	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Thr207Pro,ENST00000534846,;BRINP3,missense_variant,p.Thr309Pro,ENST00000367462,;BRINP3,non_coding_transcript_exon_variant,,ENST00000463404,;	1157	66	52	SUCCESS
ASPM	259266	.	GRCh37	1	197111554	197111554	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769895394	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	87	0	ENST00000367409.4:c.1828A>G	p.Lys610Glu	p.K610E	ENST00000367409	NM_018136.4	610	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS1389.1	1828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTTAGGCT	NONE	byFrequency	.	.	.	.	ENSP00000356379	.	3/28	.	.	.	.	.	.	.	.	rs769895394	3/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.12)	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,missense_variant,p.Lys610Glu,ENST00000367409,;ASPM,missense_variant,p.Lys610Glu,ENST00000294732,;RP11-32D17.4,upstream_gene_variant,,ENST00000442280,;	2085	87	85	SUCCESS
CAMSAP2	23271	.	GRCh37	1	200818517	200818517	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	34	117	1	ENST00000236925.4:c.2653G>T	p.Glu885Ter	p.E885*	ENST00000236925		885	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS1404.1	2620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATGAAGGA	NONE	.	.	hmmpanther:PTHR21595:SF1,hmmpanther:PTHR21595	.	.	ENSP00000351684	.	11/17	.	.	.	.	.	.	.	.	COSM159723	11/17	PASS	ENST00000358823	Transcript	.	.	ENSG00000118200	29188	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CAMP2_HUMAN	CAMSAP2	HGNC	.	.	UPI000020470D	SNV	CAMSAP2,stop_gained,p.Glu858Ter,ENST00000413307,;CAMSAP2,stop_gained,p.Glu874Ter,ENST00000358823,;CAMSAP2,stop_gained,p.Glu885Ter,ENST00000236925,;CAMSAP2,intron_variant,,ENST00000447701,;	2890	118	150	SUCCESS
LMOD1	25802	.	GRCh37	1	201915582	201915582	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	23	0	ENST00000367288.4:c.-114A>C		p.*38*	ENST00000367288	NM_012134.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53457.1	.	MUTECT|MUSE	.	CCTGCTGGTCG	NONE	.	.	.	.	.	ENSP00000356257	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000367288	Transcript	.	.	ENSG00000163431	6647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMOD1_HUMAN	LMOD1	HGNC	B4DIX9_HUMAN	.	UPI00003665F4	SNV	LMOD1,5_prime_UTR_variant,,ENST00000367288,;	134	23	33	SUCCESS
UBXN10	127733	.	GRCh37	1	20517817	20517817	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	111	1	ENST00000375099.3:c.763A>C	p.Thr255Pro	p.T255P	ENST00000375099	NM_152376.3	255	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS205.1	763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCACCAAA	NONE	.	.	PROSITE_profiles:PS50033,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF25,Pfam_domain:PF00789,Gene3D:3.10.20.90,SMART_domains:SM00166,Superfamily_domains:SSF54236	.	.	ENSP00000364240	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375099	Transcript	.	.	ENSG00000162543	26354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	UBX10_HUMAN	UBXN10	HGNC	.	.	UPI000000DBEB	SNV	UBXN10,missense_variant,p.Thr255Pro,ENST00000375099,;UBXN10-AS1,upstream_gene_variant,,ENST00000442226,;	847	112	59	SUCCESS
DEGS1	8560	.	GRCh37	1	224371102	224371102	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1405720523	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	64	0	ENST00000323699.4:c.64C>T	p.Arg22Trp	p.R22W	ENST00000323699	NM_003676.3	22	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1540.1	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACCGGCGC	NONE	.	.	hmmpanther:PTHR12879,hmmpanther:PTHR12879:SF2,Pfam_domain:PF08557,PIRSF_domain:PIRSF017228	.	.	ENSP00000316476	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000323699	Transcript	.	.	ENSG00000143753	13709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DEGS1_HUMAN	DEGS1	HGNC	.	.	UPI000007137B	SNV	DEGS1,missense_variant,p.Arg22Trp,ENST00000391877,;DEGS1,missense_variant,p.Arg22Trp,ENST00000323699,;DEGS1,intron_variant,,ENST00000415210,;SNORA72,downstream_gene_variant,,ENST00000365028,;DEGS1,upstream_gene_variant,,ENST00000465848,;	230	64	77	SUCCESS
TTC13	79573	.	GRCh37	1	231060591	231060591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	24	113	0	ENST00000366661.4:c.1717A>G	p.Arg573Gly	p.R573G	ENST00000366661	NM_024525.4	573	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS1588.1	1717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTCCATT	NONE	.	.	hmmpanther:PTHR23083:SF363,hmmpanther:PTHR23083	.	.	ENSP00000355621	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	SNV	TTC13,missense_variant,p.Arg573Gly,ENST00000366661,;TTC13,missense_variant,p.Arg520Gly,ENST00000366662,;TTC13,missense_variant,p.Arg7Gly,ENST00000486879,;TTC13,missense_variant,p.Arg520Gly,ENST00000414259,;TTC13,upstream_gene_variant,,ENST00000471302,;	1725	113	125	SUCCESS
OR2T2	401992	.	GRCh37	1	248616862	248616862	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	34	132	1	ENST00000342927.3:c.764C>T	p.Ala255Val	p.A255V	ENST00000342927	NM_001004136.1	255	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31116.1	764	RADIA|VARSCANS	.	CGGGGCAGCCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.685)	.	deleterious(0.02)	.	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,missense_variant,p.Ala255Val,ENST00000342927,;	786	133	148	SUCCESS
EXTL1	2134	.	GRCh37	1	26355761	26355761	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	44	138	0	ENST00000374280.3:c.857T>C	p.Phe286Ser	p.F286S	ENST00000374280	NM_004455.2	286	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS271.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCTTCCTCC	NONE	.	.	hmmpanther:PTHR11062:SF8,hmmpanther:PTHR11062,Pfam_domain:PF03016	.	.	ENSP00000363398	.	2/11	.	.	.	.	.	.	.	.	COSM464343	2/11	PASS	ENST00000374280	Transcript	.	.	ENSG00000158008	3515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.328)	.	deleterious(0.02)	1	EXTL1_HUMAN	EXTL1	HGNC	.	.	UPI000013DF48	SNV	EXTL1,missense_variant,p.Phe286Ser,ENST00000374280,;EXTL1,non_coding_transcript_exon_variant,,ENST00000481377,;EXTL1,non_coding_transcript_exon_variant,,ENST00000484339,;EXTL1,upstream_gene_variant,,ENST00000470037,;	1724	138	131	SUCCESS
NCOA6	23054	.	GRCh37	20	33345295	33345295	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	124	0	ENST00000359003.2:c.1256A>T	p.Gln419Leu	p.Q419L	ENST00000359003	NM_014071.3	419	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13241.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGCAAG	NONE	.	.	hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690	.	.	ENSP00000363929	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000374796	Transcript	.	.	ENSG00000198646	15936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.445)	.	.	.	NCOA6_HUMAN	NCOA6	HGNC	.	.	UPI000013C634	SNV	NCOA6,missense_variant,p.Gln419Leu,ENST00000374796,;NCOA6,missense_variant,p.Gln419Leu,ENST00000359003,;	3827	124	99	SUCCESS
BHLHE23	128408	.	GRCh37	20	61637464	61637464	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	16	0	ENST00000370346.2:c.615C>T	p.Asp205=	p.D205=	ENST00000370346	NM_080606.3	205	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	.	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGTCAGG	NONE	.	.	hmmpanther:PTHR19290:SF53,hmmpanther:PTHR19290	.	.	ENSP00000359371	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370346	Transcript	.	.	ENSG00000125533	16093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHE23_HUMAN	BHLHE23	HGNC	.	.	UPI0000072058	SNV	BHLHE23,synonymous_variant,p.%3D,ENST00000370346,;RP11-305P22.9,upstream_gene_variant,,ENST00000606208,;RP11-305P22.9,upstream_gene_variant,,ENST00000607802,;	924	16	20	SUCCESS
PI4KA	5297	.	GRCh37	22	21150602	21150602	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	5	141	0	ENST00000255882.6:c.2109G>A		p.X703_splice	ENST00000255882	NM_058004.3	703	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS33603.2	2109	MUTECT|MUSE	.	CAATGCCTGAA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15	.	.	ENSP00000255882	.	18/55	.	.	.	.	.	.	.	.	.	18/55	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,synonymous_variant,p.%3D,ENST00000572273,;PI4KA,synonymous_variant,p.%3D,ENST00000255882,;PI4KA,upstream_gene_variant,,ENST00000466162,;PI4KA,upstream_gene_variant,,ENST00000490873,;PI4KA,downstream_gene_variant,,ENST00000485950,;PI4KA,upstream_gene_variant,,ENST00000484220,;PI4KA,downstream_gene_variant,,ENST00000485963,;	2196	141	148	SUCCESS
BPIFC	254240	.	GRCh37	22	32829728	32829728	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	29	149	0	ENST00000300399.3:c.956G>A	p.Gly319Asp	p.G319D	ENST00000300399	NM_174932.2	319	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS13906.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCCTTGA	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF17,Pfam_domain:PF02886,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	.	ENSP00000380594	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000397452	Transcript	.	.	ENSG00000184459	16503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	tolerated(0.08)	.	BPIFC_HUMAN	BPIFC	HGNC	F5H3G0_HUMAN	.	UPI0000071B53	SNV	BPIFC,missense_variant,p.Gly43Asp,ENST00000534972,;BPIFC,missense_variant,p.Gly133Asp,ENST00000432451,;BPIFC,missense_variant,p.Gly319Asp,ENST00000397452,;BPIFC,missense_variant,p.Gly319Asp,ENST00000300399,;	1067	149	106	SUCCESS
CACNG2	10369	.	GRCh37	22	36960750	36960750	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	96	0	ENST00000300105.6:c.620A>T	p.Gln207Leu	p.Q207L	ENST00000300105	NM_006078.3	207	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13931.1	620	MUTECT|MUSE	.	GCAGCTGTTTG	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107	.	.	ENSP00000300105	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.071)	.	deleterious(0)	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,missense_variant,p.Gln207Leu,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	1602	96	54	SUCCESS
CACNG2	10369	.	GRCh37	22	36960792	36960792	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	104	0	ENST00000300105.6:c.578T>C	p.Val193Ala	p.V193A	ENST00000300105	NM_006078.3	193	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS13931.1	578	MUTECT|MUSE|VARSCANS	.	CCCCGACCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107,Pfam_domain:PF00822,Prints_domain:PR01792	.	.	ENSP00000300105	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.03)	.	tolerated(0.27)	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,missense_variant,p.Val193Ala,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	1560	104	65	SUCCESS
CACNG2	10369	.	GRCh37	22	36983573	36983573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	36	144	0	ENST00000300105.6:c.234G>T	p.Lys78Asn	p.K78N	ENST00000300105	NM_006078.3	78	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS13931.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGCTTGCA	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107,Pfam_domain:PF00822	.	.	ENSP00000300105	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	tolerated(0.31)	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,missense_variant,p.Lys78Asn,ENST00000300105,;CACNG2,upstream_gene_variant,,ENST00000480002,;	1216	144	167	SUCCESS
CACNG2	10369	.	GRCh37	22	36983574	36983574	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	36	145	0	ENST00000300105.6:c.233A>T	p.Lys78Met	p.K78M	ENST00000300105	NM_006078.3	78	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS13931.1	233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTTGCAC	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107,Pfam_domain:PF00822	.	.	ENSP00000300105	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.22)	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,missense_variant,p.Lys78Met,ENST00000300105,;CACNG2,upstream_gene_variant,,ENST00000480002,;	1215	145	167	SUCCESS
PLA2G6	8398	.	GRCh37	22	38565475	38565475	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs184128519	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	54	0	ENST00000332509.3:c.-42G>A		p.*14*	ENST00000332509	NM_003560.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS13967.1	.	MUTECT|MUSE	.	CCCCTCTGTCT	NONE	byCluster|by1000G	.	.	T:0.001	.	ENSP00000333142	T:0	2/17	.	.	.	.	.	.	.	.	rs184128519	2/17	PASS	ENST00000332509	Transcript	.	T:0.0002	ENSG00000184381	9039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	PLPL9_HUMAN	PLA2G6	HGNC	M0R3D9_HUMAN,M0R1Q9_HUMAN,F8WEQ9_HUMAN	.	UPI00001310F3	SNV	PLA2G6,splice_acceptor_variant,,ENST00000447598,;PLA2G6,splice_acceptor_variant,,ENST00000430886,;PLA2G6,5_prime_UTR_variant,,ENST00000335539,;PLA2G6,5_prime_UTR_variant,,ENST00000594306,;PLA2G6,5_prime_UTR_variant,,ENST00000455341,;PLA2G6,5_prime_UTR_variant,,ENST00000435484,;PLA2G6,5_prime_UTR_variant,,ENST00000402064,;PLA2G6,5_prime_UTR_variant,,ENST00000417303,;PLA2G6,5_prime_UTR_variant,,ENST00000332509,;PLA2G6,5_prime_UTR_variant,,ENST00000436218,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000420435,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000426674,;PLA2G6,upstream_gene_variant,,ENST00000452972,;PLA2G6,upstream_gene_variant,,ENST00000479641,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000471636,;	143	54	51	SUCCESS
ACVR2A	92	.	GRCh37	2	148680560	148680560	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	34	155	0	ENST00000241416.7:c.1096A>G	p.Met366Val	p.M366V	ENST00000241416	NM_001616.4	366	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS33301.1	1096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACATGGCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,missense_variant,p.Met366Val,ENST00000241416,;ACVR2A,missense_variant,p.Met366Val,ENST00000404590,;ACVR2A,missense_variant,p.Met258Val,ENST00000535787,;ACVR2A,upstream_gene_variant,,ENST00000495775,;	1732	155	88	SUCCESS
NEB	4703	.	GRCh37	2	152528994	152528994	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	82	319	0	ENST00000172853.10:c.4188C>A	p.Ala1396=	p.A1396=	ENST00000172853		1396	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS54407.1	4188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGCCAT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	37/182	.	.	.	.	.	.	.	.	.	37/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,synonymous_variant,p.%3D,ENST00000603639,;NEB,synonymous_variant,p.%3D,ENST00000172853,;NEB,synonymous_variant,p.%3D,ENST00000427231,;NEB,synonymous_variant,p.%3D,ENST00000397345,;NEB,synonymous_variant,p.%3D,ENST00000604864,;NEB,synonymous_variant,p.%3D,ENST00000409198,;NEB,upstream_gene_variant,,ENST00000484968,;	4391	320	187	SUCCESS
ABCB11	8647	.	GRCh37	2	169826676	169826676	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	32	217	1	ENST00000263817.6:c.1688A>G	p.Gln563Arg	p.Q563R	ENST00000263817	NM_003742.2	563	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS46444.1	1688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTGGCCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF165,PROSITE_patterns:PS00211,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000263817	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000263817	Transcript	.	.	ENSG00000073734	42	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABCBB_HUMAN	ABCB11	HGNC	Q9UIL3_HUMAN,Q53S60_HUMAN,B4DYQ0_HUMAN	.	UPI0000163BFA	SNV	ABCB11,missense_variant,p.Gln563Arg,ENST00000263817,;ABCB11,3_prime_UTR_variant,,ENST00000439188,;ABCB11,non_coding_transcript_exon_variant,,ENST00000478354,;	1813	218	136	SUCCESS
SDPR	0	.	GRCh37	2	192700908	192700908	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs767172526	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	4	109	0	ENST00000304141.4:c.1019C>A	p.Ala340Glu	p.A340E	ENST00000304141	NM_004657.5	340	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS2313.1	1019	MUTECT|MUSE	.	GGGACGCTTCG	NONE	byFrequency	.	hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240	.	.	ENSP00000305675	.	2/2	.	.	.	.	.	.	.	.	rs767172526	2/2	PASS	ENST00000304141	Transcript	.	.	ENSG00000168497	10690	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.529)	.	tolerated(0.19)	.	SDPR_HUMAN	SDPR	HGNC	.	.	UPI00000373C3	SNV	SDPR,missense_variant,p.Ala340Glu,ENST00000304141,;	1349	109	77	SUCCESS
HECW2	57520	.	GRCh37	2	197189763	197189763	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763828119	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	69	236	1	ENST00000260983.3:c.682G>T	p.Gly228Trp	p.G228W	ENST00000260983	NM_020760.1	228	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS33354.1	682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCGTGGT	NONE	byFrequency	.	PROSITE_profiles:PS50004,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000260983	.	6/29	.	.	.	.	.	.	.	.	rs763828119	6/29	PASS	ENST00000260983	Transcript	.	.	ENSG00000138411	29853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HECW2_HUMAN	HECW2	HGNC	C9JPI9_HUMAN,C9JHL2_HUMAN	.	UPI00001A75E8	SNV	HECW2,missense_variant,p.Gly228Trp,ENST00000260983,;HECW2,5_prime_UTR_variant,,ENST00000409111,;	865	237	206	SUCCESS
SPAG16	79582	.	GRCh37	2	215274960	215274960	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	37	196	0	ENST00000331683.5:c.1817C>A	p.Ala606Glu	p.A606E	ENST00000331683	NM_024532.4	606	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS2396.1	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCACACA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000332592	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000331683	Transcript	.	.	ENSG00000144451	23225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.585)	.	deleterious(0.01)	.	SPG16_HUMAN	SPAG16	HGNC	Q53TL7_HUMAN,Q53TF1_HUMAN,Q53SC3_HUMAN,Q53RV6_HUMAN,Q53RF0_HUMAN,Q53R35_HUMAN,Q53QP6_HUMAN	.	UPI00001AFF12	SNV	SPAG16,missense_variant,p.Ala512Glu,ENST00000374309,;SPAG16,missense_variant,p.Ala606Glu,ENST00000331683,;SPAG16,missense_variant,p.Ala230Glu,ENST00000451561,;VWC2L,upstream_gene_variant,,ENST00000427124,;VWC2L,upstream_gene_variant,,ENST00000312504,;AC107218.3,intron_variant,,ENST00000412896,;AC107218.3,intron_variant,,ENST00000437883,;SPAG16,downstream_gene_variant,,ENST00000480494,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;VWC2L,upstream_gene_variant,,ENST00000477752,;	1912	196	163	SUCCESS
SLC16A14	151473	.	GRCh37	2	230914503	230914503	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	39	234	0	ENST00000295190.4:c.377T>G	p.Leu126Arg	p.L126R	ENST00000295190	NM_152527.4	126	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS2473.1	377	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGAGATAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF121,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000295190	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000295190	Transcript	.	.	ENSG00000163053	26417	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.824)	.	deleterious(0.01)	.	MOT14_HUMAN	SLC16A14	HGNC	C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN	.	UPI000004EE99	SNV	SLC16A14,missense_variant,p.Leu126Arg,ENST00000412034,;SLC16A14,missense_variant,p.Leu126Arg,ENST00000457406,;SLC16A14,missense_variant,p.Leu126Arg,ENST00000295190,;	836	234	220	SUCCESS
COL6A3	1293	.	GRCh37	2	238280705	238280705	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs866330385	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	83	0	ENST00000295550.4:c.3955G>T	p.Val1319Leu	p.V1319L	ENST00000295550	NM_004369.3	1319	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS33412.1	3955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACACGTACT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	9/44	.	.	.	.	.	.	.	.	.	9/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Val912Leu,ENST00000392003,;COL6A3,missense_variant,p.Val712Leu,ENST00000472056,;COL6A3,missense_variant,p.Val1113Leu,ENST00000409809,;COL6A3,missense_variant,p.Val1319Leu,ENST00000295550,;COL6A3,missense_variant,p.Val1118Leu,ENST00000347401,;COL6A3,missense_variant,p.Val1119Leu,ENST00000346358,;COL6A3,missense_variant,p.Val1113Leu,ENST00000353578,;COL6A3,missense_variant,p.Val1113Leu,ENST00000392004,;	4408	83	72	SUCCESS
MYH15	22989	.	GRCh37	3	108133086	108133086	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	25	121	0	ENST00000273353.3:c.4198G>C	p.Asp1400His	p.D1400H	ENST00000273353	NM_014981.1	1400	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS43127.1	4198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCCTCCA	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	31/42	.	.	.	.	.	.	.	.	.	31/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Asp1400His,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	4255	121	132	SUCCESS
PIK3CA	5290	.	GRCh37	3	178928226	178928226	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1057519872	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	106	0	ENST00000263967.3:c.1412C>T	p.Pro471Leu	p.P471L	ENST00000263967	NM_006218.2	471	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43171.1	1412	MUTECT|MUSE	.	AACTCCATGCT	SITE|p.P471L|c.1412C>T|4,SITE|p.P471L|c.1412C>T|4	.	.	PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00792,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000263967	.	9/21	.	.	.	.	.	.	.	.	COSM136387,COSM136386	9/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.92)	.	deleterious(0)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Pro471Leu,ENST00000263967,;	1569	106	92	SUCCESS
CSPG5	10675	.	GRCh37	3	47618646	47618646	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	63	0	ENST00000383738.2:c.870A>G	p.Gly290=	p.G290=	ENST00000383738	NM_001206945.1	290	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS56253.1	870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTCCTAC	NONE	.	.	hmmpanther:PTHR15381,hmmpanther:PTHR15381:SF1	.	.	ENSP00000373244	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000383738	Transcript	.	.	ENSG00000114646	2467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG5_HUMAN	CSPG5	HGNC	B7Z2E0_HUMAN	.	UPI0000D61AFE	SNV	CSPG5,synonymous_variant,p.%3D,ENST00000264723,;CSPG5,synonymous_variant,p.%3D,ENST00000383738,;CSPG5,synonymous_variant,p.%3D,ENST00000456150,;CSPG5,downstream_gene_variant,,ENST00000465441,;	2969	63	58	SUCCESS
DNAH1	25981	.	GRCh37	3	52393979	52393979	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	63	186	0	ENST00000420323.2:c.4455G>A	p.Gln1485=	p.Q1485=	ENST00000420323	NM_015512.4	1485	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS46842.1	4455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGCGGGC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	27/78	.	.	.	.	.	.	.	.	.	27/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,synonymous_variant,p.%3D,ENST00000420323,;DNAH1,upstream_gene_variant,,ENST00000466628,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;	4716	186	160	SUCCESS
GRM7	2917	.	GRCh37	3	7494474	7494474	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	40	154	0	ENST00000357716.4:c.1355T>C	p.Ile452Thr	p.I452T	ENST00000357716	NM_000844.3	452	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS43042.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATATACGCA	NONE	.	.	hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000350348	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.57)	.	deleterious(0)	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Ile452Thr,ENST00000402647,;GRM7,missense_variant,p.Ile452Thr,ENST00000486284,;GRM7,missense_variant,p.Ile109Thr,ENST00000445087,;GRM7,missense_variant,p.Ile452Thr,ENST00000389336,;GRM7,missense_variant,p.Ile452Thr,ENST00000357716,;GRM7,missense_variant,p.Ile452Thr,ENST00000403881,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Ile452Thr,ENST00000389335,;GRM7,missense_variant,p.Ile452Thr,ENST00000467425,;GRM7,missense_variant,p.Ile452Thr,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	1629	154	117	SUCCESS
CEP170P1	645455	.	GRCh37	4	119459039	119459039	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	39	301	0	ENST00000412784.2:n.197T>C		p.*66*	ENST00000412784				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATTGCTC	NONE	.	.	.	.	.	.	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000412784	Transcript	.	.	ENSG00000154608	28364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CEP170P1	HGNC	.	.	.	SNV	CEP170P1,non_coding_transcript_exon_variant,,ENST00000412784,;CEP170P1,non_coding_transcript_exon_variant,,ENST00000450306,;CEP170P1,non_coding_transcript_exon_variant,,ENST00000502249,;	197	301	170	SUCCESS
PLK4	10733	.	GRCh37	4	128816239	128816239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	74	0	ENST00000270861.5:c.2694G>T	p.Trp898Cys	p.W898C	ENST00000270861	NM_014264.4	898	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS3735.1	2694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGGGCTAC	NONE	.	.	PROSITE_profiles:PS50078,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50,Pfam_domain:PF00659,Superfamily_domains:SSF82615	.	.	ENSP00000270861	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000270861	Transcript	1	.	ENSG00000142731	11397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	deleterious(0.02)	.	PLK4_HUMAN	PLK4	HGNC	.	.	UPI000007426E	SNV	PLK4,missense_variant,p.Trp144Cys,ENST00000508113,;PLK4,missense_variant,p.Trp820Cys,ENST00000515069,;PLK4,missense_variant,p.Trp837Cys,ENST00000507249,;PLK4,missense_variant,p.Trp898Cys,ENST00000270861,;PLK4,missense_variant,p.Trp857Cys,ENST00000514379,;PLK4,missense_variant,p.Trp866Cys,ENST00000513090,;RNU6-583P,downstream_gene_variant,,ENST00000516012,;PLK4,non_coding_transcript_exon_variant,,ENST00000510192,;PLK4,downstream_gene_variant,,ENST00000507454,;PLK4,downstream_gene_variant,,ENST00000510605,;	2968	74	34	SUCCESS
UCP1	7350	.	GRCh37	4	141484571	141484571	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	126	0	ENST00000262999.3:c.427G>A	p.Ala143Thr	p.A143T	ENST00000262999	NM_021833.4	143	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3753.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCTTGAA	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF210,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000262999	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000262999	Transcript	.	.	ENSG00000109424	12517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.806)	.	deleterious(0.01)	.	UCP1_HUMAN	UCP1	HGNC	Q4KMT7_HUMAN	.	UPI000003627B	SNV	UCP1,missense_variant,p.Ala143Thr,ENST00000262999,;	503	126	109	SUCCESS
FAM160A1	0	.	GRCh37	4	152571045	152571045	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	14	134	0	ENST00000435205.1:c.1852C>G	p.Gln618Glu	p.Q618E	ENST00000435205	NM_001109977.1	618	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS47146.1	1852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCAGGAG	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705	.	.	ENSP00000413196	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Gln618Glu,ENST00000435205,;FAM160A1,missense_variant,p.Gln618Glu,ENST00000505231,;	2427	134	93	SUCCESS
DCHS2	54798	.	GRCh37	4	155163818	155163818	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	89	0	ENST00000357232.4:c.5683T>A	p.Ser1895Thr	p.S1895T	ENST00000357232	NM_017639.3	1895	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS3785.1	5683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGAGGGGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	tolerated(0.11)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Ser1895Thr,ENST00000357232,;	5683	89	79	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160253698	160253698	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1235889807	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	39	212	0	ENST00000264431.4:c.1501T>C	p.Ser501Pro	p.S501P	ENST00000264431	NM_014247.2	501	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS43277.1	1501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACTCCATT	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202	.	.	ENSP00000264431	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.414)	.	deleterious(0.01)	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	SNV	RAPGEF2,missense_variant,p.Ser139Pro,ENST00000512056,;RAPGEF2,missense_variant,p.Ser501Pro,ENST00000264431,;RAPGEF2,downstream_gene_variant,,ENST00000513816,;	1920	212	153	SUCCESS
GALNTL6	442117	.	GRCh37	4	173942670	173942670	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	154	0	ENST00000506823.1:c.1532C>G	p.Pro511Arg	p.P511R	ENST00000506823	NM_001034845.2	511	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS34104.1	1532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCCACTGC	NONE	.	.	Superfamily_domains:SSF50370,SMART_domains:SM00458,Pfam_domain:PF00652,Gene3D:2.80.10.50,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34,PROSITE_profiles:PS50231	.	.	ENSP00000423313	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000506823	Transcript	.	.	ENSG00000174473	33844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious_low_confidence(0)	.	GLTL6_HUMAN	GALNTL6	HGNC	E5D8G0_HUMAN	.	UPI000058EB5C	SNV	GALNTL6,missense_variant,p.Pro494Arg,ENST00000508122,;GALNTL6,missense_variant,p.Pro511Arg,ENST00000506823,;	2189	154	105	SUCCESS
SLC34A2	10568	.	GRCh37	4	25671316	25671316	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	50	170	0	ENST00000382051.3:c.683T>A	p.Val228Glu	p.V228E	ENST00000382051	NM_006424.2	228	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS3435.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCGTGTTGG	NONE	.	.	Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23	.	.	ENSP00000371483	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000382051	Transcript	1	.	ENSG00000157765	11020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	NPT2B_HUMAN	SLC34A2	HGNC	D6RBC0_HUMAN	.	UPI000013DF24	SNV	SLC34A2,missense_variant,p.Val227Glu,ENST00000503434,;SLC34A2,missense_variant,p.Val228Glu,ENST00000382051,;SLC34A2,missense_variant,p.Val227Glu,ENST00000504570,;SLC34A2,downstream_gene_variant,,ENST00000507530,;SLC34A2,downstream_gene_variant,,ENST00000513204,;SLC34A2,downstream_gene_variant,,ENST00000510033,;	733	170	160	SUCCESS
HTT	3064	.	GRCh37	4	3237426	3237426	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	90	0	ENST00000355072.5:c.8706G>T	p.Leu2902=	p.L2902=	ENST00000355072	NM_002111.6	2902	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43206.1	8706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGAGTGT	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	63/67	.	.	.	.	.	.	.	.	.	63/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,synonymous_variant,p.%3D,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000508321,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	8851	90	52	SUCCESS
MSX1	4487	.	GRCh37	4	4864431	4864431	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs746116954	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	68	2	ENST00000382723.4:c.473G>T	p.Arg158Leu	p.R158L	ENST00000382723	NM_002448.3	158	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS3378.2	473	SOMATICSNIPER|VARSCANS	.	AGGGCGGCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24338:SF3,hmmpanther:PTHR24338,Gene3D:1.10.10.60,Superfamily_domains:SSF46689	.	.	ENSP00000372170	.	2/2	.	.	.	.	.	.	.	.	rs746116954	2/2	PASS	ENST00000382723	Transcript	1	.	ENSG00000163132	7391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.392)	.	tolerated(0.05)	.	MSX1_HUMAN	MSX1	HGNC	E9KY19_HUMAN,E9KY18_HUMAN,E9KY17_HUMAN,E9KY16_HUMAN,E9KY15_HUMAN,E9KY14_HUMAN,E9KY13_HUMAN,E9KY12_HUMAN,E9KY11_HUMAN,E9KY10_HUMAN,E9KY09_HUMAN,E9KY08_HUMAN,E9KY07_HUMAN,E9KY06_HUMAN,E9KY05_HUMAN,E9KY04_HUMAN,E9KY03_HUMAN,E9KY02_HUMAN,E9KY01_HUMAN,E9KY00_HUMAN,E9KXZ9_HUMAN,E9KXZ8_HUMAN,E9KXZ7_HUMAN,E9KXZ6_HUMAN,E9KXZ5_HUMAN,E9KXZ4_HUMAN,E9KXZ3_HUMAN,E9KXZ2_HUMAN,E9KXZ1_HUMAN,E9KXZ0_HUMAN,E9KXY9_HUMAN,E9KXY8_HUMAN,E9KXY7_HUMAN,E9KXY6_HUMAN,E9KXY5_HUMAN,E9KXY4_HUMAN,E9KXY3_HUMAN,E9KXY2_HUMAN,E9KXY1_HUMAN,E9KXY0_HUMAN,E9KXX9_HUMAN,E9KXX8_HUMAN,E9KXX7_HUMAN,E9KXX6_HUMAN,E9KXX5_HUMAN,E9KXX4_HUMAN,E9KXX3_HUMAN,E9KXX2_HUMAN,E9KXX1_HUMAN,E9KXX0_HUMAN,E9KXW9_HUMAN,E9KXW8_HUMAN,E9KXW7_HUMAN,E9KXW6_HUMAN,E9KXW5_HUMAN,E9KXW4_HUMAN,E9KXW3_HUMAN,E9KXW2_HUMAN,E9KXW1_HUMAN,E9KXW0_HUMAN,E9KXV9_HUMAN,E9KXV8_HUMAN,E9KXV7_HUMAN,E9KXV6_HUMAN,E9KXV5_HUMAN,E9KXV4_HUMAN,E9KXV3_HUMAN,E9KXV2_HUMAN,E9KXV1_HUMAN,E9KXV0_HUMAN,E9KXU9_HUMAN,E9KXU8_HUMAN,E9KXU7_HUMAN,E9KXU6_HUMAN,E9KXU5_HUMAN,E9KXU4_HUMAN,E9KXU3_HUMAN,E9KXU2_HUMAN,E9KXU1_HUMAN,E9KXU0_HUMAN,E9KXT9_HUMAN,E9KXT8_HUMAN,E9KXT7_HUMAN,E9KXT6_HUMAN,E9KXT5_HUMAN,E9KXT4_HUMAN,E9KXT3_HUMAN,E9KXT2_HUMAN,E9KXT1_HUMAN,E9KXT0_HUMAN,E9KXS9_HUMAN,E9KXS8_HUMAN,E9KXS7_HUMAN,E9KXS6_HUMAN,A0SZU5_HUMAN	.	UPI0000D474F4	SNV	MSX1,missense_variant,p.Arg158Leu,ENST00000382723,;MSX1,non_coding_transcript_exon_variant,,ENST00000468421,;	707	70	36	SUCCESS
TMPRSS11D	9407	.	GRCh37	4	68725292	68725292	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	15	239	1	ENST00000283916.6:c.113T>A	p.Val38Asp	p.V38D	ENST00000283916	NM_004262.2	38	gTt/gAt	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS3518.1	113	MUTECT|MUSE	.	AGTAAACAAGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24256:SF36,hmmpanther:PTHR24256,Gene3D:1ivzA00,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452	.	.	ENSP00000283916	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000283916	Transcript	.	.	ENSG00000153802	24059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	TM11D_HUMAN	TMPRSS11D	HGNC	Q4W5K4_HUMAN,B4DL57_HUMAN	.	UPI000003FE66	SNV	TMPRSS11D,missense_variant,p.Val38Asp,ENST00000283916,;TMPRSS11D,intron_variant,,ENST00000545541,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000511931,;TMPRSS11D,intron_variant,,ENST00000509584,;TMPRSS11D,intron_variant,,ENST00000502573,;TMPRSS11D,intron_variant,,ENST00000508409,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502822,;	212	240	185	SUCCESS
TCF7	6932	.	GRCh37	5	133481778	133481778	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	47	0	ENST00000342854.5:c.1076-137C>T		p.*359*	ENST00000342854	NM_003202.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4169.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACACTGA	NONE	.	.	.	.	.	ENSP00000340347	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342854	Transcript	.	.	ENSG00000081059	11639	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF7_HUMAN	TCF7	HGNC	E5RJ51_HUMAN,E5RG75_HUMAN,B3KQ75_HUMAN	.	UPI000006230C	SNV	TCF7,3_prime_UTR_variant,,ENST00000518915,;TCF7,intron_variant,,ENST00000517799,;TCF7,intron_variant,,ENST00000517855,;TCF7,intron_variant,,ENST00000432532,;TCF7,intron_variant,,ENST00000321603,;TCF7,intron_variant,,ENST00000520699,;TCF7,intron_variant,,ENST00000342854,;TCF7,intron_variant,,ENST00000395023,;TCF7,intron_variant,,ENST00000520958,;TCF7,intron_variant,,ENST00000378560,;TCF7,intron_variant,,ENST00000395029,;TCF7,downstream_gene_variant,,ENST00000519037,;TCF7,downstream_gene_variant,,ENST00000518887,;TCF7,downstream_gene_variant,,ENST00000321584,;TCF7,downstream_gene_variant,,ENST00000378564,;SKP1,downstream_gene_variant,,ENST00000353411,;TCF7,downstream_gene_variant,,ENST00000522375,;TCF7,downstream_gene_variant,,ENST00000521639,;TCF7,downstream_gene_variant,,ENST00000517851,;TCF7,downstream_gene_variant,,ENST00000517478,;TCF7,non_coding_transcript_exon_variant,,ENST00000522653,;TCF7,intron_variant,,ENST00000524342,;TCF7,intron_variant,,ENST00000519238,;TCF7,downstream_gene_variant,,ENST00000522561,;TCF7,downstream_gene_variant,,ENST00000519447,;TCF7,downstream_gene_variant,,ENST00000520652,;TCF7,downstream_gene_variant,,ENST00000517741,;	.	47	35	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140857854	140857854	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs777542913	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	64	0	ENST00000308177.3:c.2171G>C	p.Arg724Thr	p.R724T	ENST00000308177	NM_002588.2	724	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS4261.1	2171	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTAGAGACC	NONE	byFrequency	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	rs777542913	1/4	PASS	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.253)	.	deleterious(0.04)	.	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	SNV	PCDHGC3,missense_variant,p.Arg724Thr,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	2275	64	62	SUCCESS
ATP10B	23120	.	GRCh37	5	160113232	160113232	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	142	0	ENST00000327245.5:c.324C>T	p.Pro108=	p.P108=	ENST00000327245	NM_025153.2	108	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43394.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAGGGCAT	NONE	.	.	Superfamily_domains:0049473,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,synonymous_variant,p.%3D,ENST00000327245,;CTC-529G1.1,intron_variant,,ENST00000524198,;ATP10B,non_coding_transcript_exon_variant,,ENST00000518411,;ATP10B,downstream_gene_variant,,ENST00000520098,;ATP10B,downstream_gene_variant,,ENST00000520975,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;ATP10B,upstream_gene_variant,,ENST00000326831,;	1171	142	134	SUCCESS
GABRA1	2554	.	GRCh37	5	161324184	161324184	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761617651	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	6	114	0	ENST00000023897.6:c.1127C>A	p.Thr376Asn	p.T376N	ENST00000023897	NM_000806.5	376	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS4357.1	1127	MUTECT|MUSE	.	CTACACCCCTA	NONE	byFrequency	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112	.	.	ENSP00000393097	.	11/11	.	.	.	.	.	.	.	.	rs761617651,COSM1065331,COSM84945	11/11	PASS	ENST00000428797	Transcript	1	.	ENSG00000022355	4075	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.291)	.	tolerated(0.34)	0,1,1	GBRA1_HUMAN	GABRA1	HGNC	E5RK60_HUMAN,E5RJS3_HUMAN	.	UPI000012AF95	SNV	GABRA1,missense_variant,p.Thr376Asn,ENST00000444819,;GABRA1,missense_variant,p.Thr376Asn,ENST00000420560,;GABRA1,missense_variant,p.Thr376Asn,ENST00000393943,;GABRA1,missense_variant,p.Thr376Asn,ENST00000023897,;GABRA1,missense_variant,p.Thr376Asn,ENST00000437025,;GABRA1,missense_variant,p.Thr376Asn,ENST00000428797,;	1482	114	111	SUCCESS
SLIT3	6586	.	GRCh37	5	168233531	168233531	+	synonymous_variant	Silent	SNP	C	C	A	rs367972639	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	45	229	0	ENST00000519560.1:c.855G>T	p.Thr285=	p.T285=	ENST00000519560	NM_003062.3	285	acG/acT	0	T:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS4369.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGTGCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF01462,Gene3D:3.80.10.10,SMART_domains:SM00013	.	T:0.0003	ENSP00000430333	.	9/36	.	.	.	.	.	.	.	.	rs367972639,COSM1435904	9/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521150,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;	1275	229	194	SUCCESS
DOK3	79930	.	GRCh37	5	176936802	176936802	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	25	138	0	ENST00000357198.4:c.51+1G>A		p.X17_splice	ENST00000357198	NM_024872.2	17		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4426.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCACCTGGT	NONE	.	.	.	.	.	ENSP00000349727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357198	Transcript	.	.	ENSG00000146094	24583	.	.	HIGH	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOK3_HUMAN	DOK3	HGNC	D6RC22_HUMAN,D6RAZ9_HUMAN,D6RAV2_HUMAN,D6RAM3_HUMAN,D6R977_HUMAN,D6R951_HUMAN	.	UPI000013DA2C	SNV	DOK3,splice_donor_variant,,ENST00000510380,;DOK3,splice_donor_variant,,ENST00000357198,;DOK3,5_prime_UTR_variant,,ENST00000502885,;DOK3,5_prime_UTR_variant,,ENST00000510898,;DOK3,5_prime_UTR_variant,,ENST00000506493,;DOK3,intron_variant,,ENST00000312943,;DOK3,intron_variant,,ENST00000510389,;DOK3,intron_variant,,ENST00000377112,;DOK3,intron_variant,,ENST00000509310,;DOK3,intron_variant,,ENST00000501403,;DDX41,downstream_gene_variant,,ENST00000330503,;DDX41,downstream_gene_variant,,ENST00000507955,;DOK3,non_coding_transcript_exon_variant,,ENST00000512660,;DOK3,intron_variant,,ENST00000502380,;DDX41,downstream_gene_variant,,ENST00000507900,;DOK3,upstream_gene_variant,,ENST00000500323,;DDX41,downstream_gene_variant,,ENST00000512027,;DDX41,downstream_gene_variant,,ENST00000512334,;DDX41,downstream_gene_variant,,ENST00000508279,;DDX41,downstream_gene_variant,,ENST00000505081,;DDX41,downstream_gene_variant,,ENST00000511040,;DDX41,downstream_gene_variant,,ENST00000504807,;DDX41,downstream_gene_variant,,ENST00000503078,;DDX41,downstream_gene_variant,,ENST00000513562,;	.	138	110	SUCCESS
HNRNPH1	3187	.	GRCh37	5	179047996	179047996	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	55	228	0	ENST00000356731.5:c.294G>T	p.Lys98Asn	p.K98N	ENST00000356731		98	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4446.1	294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGCTTCAA	NONE	.	.	hmmpanther:PTHR13976:SF33,hmmpanther:PTHR13976,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000349168	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000356731	Transcript	1	.	ENSG00000169045	5041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.04)	.	HNRH1_HUMAN	HNRNPH1	HGNC	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN	.	UPI0000000C2B	SNV	HNRNPH1,missense_variant,p.Lys98Asn,ENST00000504348,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000329433,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000521116,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000510431,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000505811,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000442819,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000356731,;HNRNPH1,missense_variant,p.Lys46Asn,ENST00000519056,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000508103,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000506721,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000393432,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000513225,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000515158,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000510411,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000503105,;HNRNPH1,missense_variant,p.Lys21Asn,ENST00000521790,;HNRNPH1,intron_variant,,ENST00000523137,;HNRNPH1,downstream_gene_variant,,ENST00000503664,;HNRNPH1,upstream_gene_variant,,ENST00000523449,;HNRNPH1,upstream_gene_variant,,ENST00000523921,;HNRNPH1,downstream_gene_variant,,ENST00000515714,;HNRNPH1,upstream_gene_variant,,ENST00000511300,;HNRNPH1,downstream_gene_variant,,ENST00000522256,;HNRNPH1,upstream_gene_variant,,ENST00000523136,;HNRNPH1,upstream_gene_variant,,ENST00000519033,;HNRNPH1,upstream_gene_variant,,ENST00000521173,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000519455,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000518548,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000524180,;HNRNPH1,missense_variant,p.Lys45Asn,ENST00000519958,;HNRNPH1,missense_variant,p.Lys98Asn,ENST00000510678,;HNRNPH1,3_prime_UTR_variant,,ENST00000504779,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000522958,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514731,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000519707,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000513972,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000519943,;HNRNPH1,downstream_gene_variant,,ENST00000513230,;HNRNPH1,upstream_gene_variant,,ENST00000502632,;HNRNPH1,downstream_gene_variant,,ENST00000515446,;HNRNPH1,downstream_gene_variant,,ENST00000512273,;HNRNPH1,upstream_gene_variant,,ENST00000524179,;HNRNPH1,downstream_gene_variant,,ENST00000505087,;HNRNPH1,upstream_gene_variant,,ENST00000515481,;HNRNPH1,upstream_gene_variant,,ENST00000504549,;HNRNPH1,upstream_gene_variant,,ENST00000520415,;HNRNPH1,upstream_gene_variant,,ENST00000502904,;HNRNPH1,upstream_gene_variant,,ENST00000521720,;	1830	228	227	SUCCESS
RNF130	55819	.	GRCh37	5	179393926	179393926	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138960112	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	62	203	0	ENST00000521389.1:c.1030G>A	p.Gly344Ser	p.G344S	ENST00000521389	NM_018434.5	344	Ggc/Agc	0	T:0.0032	T:0.0038	.	T:0	.	T	G/S	protein_coding	YES	CCDS4451.1	1030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGCCGAGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR22765:SF40,hmmpanther:PTHR22765	T:0	T:0	ENSP00000430237	T:0	7/9	.	.	.	.	.	.	.	.	rs138960112	7/9	PASS	ENST00000521389	Transcript	.	T:0.0010	ENSG00000113269	18280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	T:0	tolerated(1)	.	GOLI_HUMAN	RNF130	HGNC	Q2HIY3_HUMAN	.	UPI000003776B	SNV	RNF130,missense_variant,p.Gly344Ser,ENST00000522208,;RNF130,missense_variant,p.Gly344Ser,ENST00000261947,;RNF130,missense_variant,p.Gly344Ser,ENST00000521389,;CTC-563A5.2,downstream_gene_variant,,ENST00000510240,;RNF130,3_prime_UTR_variant,,ENST00000520911,;RNF130,upstream_gene_variant,,ENST00000521901,;RNF130,downstream_gene_variant,,ENST00000519708,;	1446	203	175	SUCCESS
RXFP3	51289	.	GRCh37	5	33937074	33937074	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	55	0	ENST00000330120.3:c.229G>C	p.Glu77Gln	p.E77Q	ENST00000330120	NM_016568.3	77	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS3900.1	229	MUTECT|MUSE	.	ACACAGAGGCC	NONE	.	.	hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF48,Gene3D:1.20.1070.10	.	.	ENSP00000328708	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330120	Transcript	.	.	ENSG00000182631	24883	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.27)	.	RL3R1_HUMAN	RXFP3	HGNC	.	.	UPI0000046AEB	SNV	RXFP3,missense_variant,p.Glu77Gln,ENST00000330120,;	584	55	45	SUCCESS
LMBRD2	92255	.	GRCh37	5	36124328	36124328	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	38	218	0	ENST00000296603.4:c.787C>A	p.Pro263Thr	p.P263T	ENST00000296603	NM_001007527.1	263	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS34145.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGGTGAT	NONE	.	.	Pfam_domain:PF04791,hmmpanther:PTHR21355	.	.	ENSP00000296603	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000296603	Transcript	.	.	ENSG00000164187	25287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated(0.07)	.	LMBD2_HUMAN	LMBRD2	HGNC	B4DTZ7_HUMAN	.	UPI00001602FC	SNV	LMBRD2,missense_variant,p.Pro263Thr,ENST00000296603,;	1250	218	160	SUCCESS
VGLL2	245806	.	GRCh37	6	117589552	117589552	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	135	0	ENST00000326274.5:c.289T>C	p.Ser97Pro	p.S97P	ENST00000326274	NM_182645.3	97	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS5115.1	289	MUTECT|MUSE	.	TCAGCTCCGTG	NONE	.	.	hmmpanther:PTHR15950:SF17,hmmpanther:PTHR15950,Pfam_domain:PF07545	.	.	ENSP00000320957	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000326274	Transcript	.	.	ENSG00000170162	20232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.88)	.	deleterious(0.01)	.	VGLL2_HUMAN	VGLL2	HGNC	.	.	UPI000006FF57	SNV	VGLL2,missense_variant,p.Ser97Pro,ENST00000352536,;VGLL2,missense_variant,p.Ser97Pro,ENST00000326274,;	479	136	63	SUCCESS
ROS1	6098	.	GRCh37	6	117638330	117638330	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	6	190	0	ENST00000368508.3:c.6111T>C	p.Tyr2037=	p.Y2037=	ENST00000368508	NM_002944.2	2037	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS5116.1	6111	MUTECT|MUSE	.	CGCAAATAAGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000357494	.	38/43	.	.	.	.	.	.	.	.	.	38/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,synonymous_variant,p.%3D,ENST00000368507,;ROS1,synonymous_variant,p.%3D,ENST00000368508,;GOPC,downstream_gene_variant,,ENST00000467125,;	6310	190	109	SUCCESS
IGF2R	3482	.	GRCh37	6	160494391	160494391	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs375863720	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	6	213	0	ENST00000356956.1:c.4837G>A	p.Val1613Met	p.V1613M	ENST00000356956	NM_000876.2	1613	Gtg/Atg	0	A:0.0002	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS5273.1	4837	MUTECT|MUSE	.	GTTTCGTGTGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	A:0.001	A:0	ENSP00000349437	A:0	34/48	.	.	.	.	.	.	.	.	rs375863720	34/48	PASS	ENST00000356956	Transcript	.	A:0.0002	ENSG00000197081	5467	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	A:0	deleterious(0.01)	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,missense_variant,p.Val1613Met,ENST00000356956,;IGF2R,upstream_gene_variant,,ENST00000487607,;	4985	213	147	SUCCESS
GPR31	2853	.	GRCh37	6	167571101	167571101	+	synonymous_variant	Silent	SNP	G	G	A	rs1260800078	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	43	242	0	ENST00000366834.1:c.219C>T	p.Phe73=	p.F73=	ENST00000366834	NM_005299.2	73	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS5299.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTAGAAGGC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF37,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000355799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366834	Transcript	.	.	ENSG00000120436	4486	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR31_HUMAN	GPR31	HGNC	.	.	UPI000007390A	SNV	GPR31,synonymous_variant,p.%3D,ENST00000366834,;TCP10L2,intron_variant,,ENST00000486697,;TCP10L2,intron_variant,,ENST00000539001,;	717	242	157	SUCCESS
KIF25	3834	.	GRCh37	6	168443256	168443256	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	95	0	ENST00000354419.2:c.845C>G	p.Thr282Ser	p.T282S	ENST00000354419	NM_030615.2	282	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS5305.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACCGGGT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF327,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000388878	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	tolerated(0.17)	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,missense_variant,p.Thr282Ser,ENST00000354419,;KIF25,missense_variant,p.Thr282Ser,ENST00000443060,;KIF25,intron_variant,,ENST00000351261,;	1236	95	48	SUCCESS
HSPA1A	3303	.	GRCh37	6	31785058	31785058	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1419380472	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	307	116	203	0	ENST00000375651.5:c.1525C>T	p.Arg509Cys	p.R509C	ENST00000375651	NM_005345.5	509	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS34414.1	1525	RADIA|VARSCANS	.	AGGGCCGCCTG	NONE	.	.	Superfamily_domains:SSF100920,Pfam_domain:PF00012,Gene3D:2.60.34.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF155	.	.	ENSP00000364802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375651	Transcript	.	.	ENSG00000204389	5232	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.02)	.	HSP71_HUMAN	HSPA1A	HGNC	A8K5I0_HUMAN	.	UPI0000000C40	SNV	HSPA1A,missense_variant,p.Arg509Cys,ENST00000375651,;HSPA1A,missense_variant,p.Arg418Cys,ENST00000458062,;HSPA1A,missense_variant,p.Arg344Cys,ENST00000608703,;HSPA1L,upstream_gene_variant,,ENST00000417199,;HSPA1L,upstream_gene_variant,,ENST00000375654,;	1768	203	424	SUCCESS
MTO1	25821	.	GRCh37	6	74183325	74183325	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868497455	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	146	0	ENST00000370300.4:c.773C>T	p.Pro258Leu	p.P258L	ENST00000370300	NM_012123.3	258	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS47452.1	773	MUTECT|MUSE	.	TATACCGGACA	NONE	.	.	hmmpanther:PTHR11806,hmmpanther:PTHR11806:SF3,TIGRFAM_domain:TIGR00136,Pfam_domain:PF01134,Superfamily_domains:SSF51905	.	.	ENSP00000402038	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000415954	Transcript	.	.	ENSG00000135297	19261	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.863)	.	tolerated(0.06)	.	MTO1_HUMAN	MTO1	HGNC	.	.	UPI0001639C21	SNV	MTO1,missense_variant,p.Pro258Leu,ENST00000370300,;MTO1,missense_variant,p.Pro258Leu,ENST00000498286,;MTO1,missense_variant,p.Pro184Leu,ENST00000370305,;MTO1,missense_variant,p.Pro258Leu,ENST00000415954,;AL603910.1,upstream_gene_variant,,ENST00000580608,;MTO1,downstream_gene_variant,,ENST00000518210,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,non_coding_transcript_exon_variant,,ENST00000466977,;MTO1,intron_variant,,ENST00000462039,;MTO1,intron_variant,,ENST00000442897,;MTO1,intron_variant,,ENST00000415228,;MTO1,downstream_gene_variant,,ENST00000522205,;MTO1,downstream_gene_variant,,ENST00000521032,;MTO1,downstream_gene_variant,,ENST00000485082,;	1050	146	89	SUCCESS
CD109	135228	.	GRCh37	6	74446154	74446154	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752189865	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	106	0	ENST00000287097.5:c.556C>G	p.Leu186Val	p.L186V	ENST00000287097		186	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS4982.1	556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATCTTGGA	NONE	.	.	Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	.	.	ENSP00000287097	.	5/33	.	.	.	.	.	.	.	.	rs752189865	5/33	PASS	ENST00000287097	Transcript	.	.	ENSG00000156535	21685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	tolerated(0.05)	.	CD109_HUMAN	CD109	HGNC	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN	.	UPI000013DE92	SNV	CD109,missense_variant,p.Leu186Val,ENST00000287097,;CD109,missense_variant,p.Leu186Val,ENST00000437994,;CD109,missense_variant,p.Leu109Val,ENST00000422508,;	668	106	61	SUCCESS
PGM3	5238	.	GRCh37	6	83880166	83880166	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs776651237	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	139	2	ENST00000513973.1:c.1397A>T	p.Asp466Val	p.D466V	ENST00000513973	NM_001199918.1	466	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS56436.1	1481	RADIA|VARSCANS	.	CAGCATCGGTA	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF15,Gene3D:3.30.310.50,PIRSF_domain:PIRSF016408,Superfamily_domains:SSF55957	.	.	ENSP00000425809	.	13/14	.	.	.	.	.	.	.	.	rs776651237	13/14	PASS	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,missense_variant,p.Asp97Val,ENST00000509219,;PGM3,missense_variant,p.Asp466Val,ENST00000512866,;PGM3,missense_variant,p.Asp466Val,ENST00000513973,;PGM3,missense_variant,p.Asp385Val,ENST00000283977,;PGM3,missense_variant,p.Asp494Val,ENST00000506587,;DOPEY1,downstream_gene_variant,,ENST00000237163,;DOPEY1,downstream_gene_variant,,ENST00000369739,;DOPEY1,downstream_gene_variant,,ENST00000349129,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;PGM3,missense_variant,p.Asp37Val,ENST00000504780,;PGM3,downstream_gene_variant,,ENST00000507404,;	1628	141	90	SUCCESS
LRWD1	222229	.	GRCh37	7	102108549	102108549	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	101	0	ENST00000292616.5:c.719T>G	p.Leu240Arg	p.L240R	ENST00000292616	NM_152892.1	240	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS34715.1	719	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTCAGCC	NONE	.	.	hmmpanther:PTHR24370:SF10,hmmpanther:PTHR24370	.	.	ENSP00000292616	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000292616	Transcript	.	.	ENSG00000161036	21769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.352)	.	tolerated(0.55)	.	LRWD1_HUMAN	LRWD1	HGNC	.	.	UPI0000071D2E	SNV	LRWD1,missense_variant,p.Leu240Arg,ENST00000292616,;ALKBH4,upstream_gene_variant,,ENST00000292566,;LRWD1,upstream_gene_variant,,ENST00000468175,;MIR5090,downstream_gene_variant,,ENST00000582533,;MIR4467,upstream_gene_variant,,ENST00000578629,;LRWD1,3_prime_UTR_variant,,ENST00000485808,;LRWD1,3_prime_UTR_variant,,ENST00000463739,;LRWD1,non_coding_transcript_exon_variant,,ENST00000485417,;LRWD1,non_coding_transcript_exon_variant,,ENST00000473880,;ALKBH4,upstream_gene_variant,,ENST00000490528,;LRWD1,downstream_gene_variant,,ENST00000464107,;ALKBH4,upstream_gene_variant,,ENST00000498283,;LRWD1,downstream_gene_variant,,ENST00000476270,;	871	101	76	SUCCESS
RELN	5649	.	GRCh37	7	103179712	103179712	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	110	0	ENST00000428762.1:c.6993T>C	p.Asp2331=	p.D2331=	ENST00000428762	NM_005045.3	2331	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS47680.1	6993	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTATCAAG	NONE	.	.	hmmpanther:PTHR11841	.	.	ENSP00000392423	.	45/65	.	.	.	.	.	.	.	.	.	45/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,synonymous_variant,p.%3D,ENST00000424685,;RELN,synonymous_variant,p.%3D,ENST00000428762,;RELN,synonymous_variant,p.%3D,ENST00000343529,;RELN,non_coding_transcript_exon_variant,,ENST00000478148,;	7153	110	114	SUCCESS
PIK3CG	5294	.	GRCh37	7	106508977	106508977	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760224981	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	152	0	ENST00000359195.3:c.971C>T	p.Pro324Leu	p.P324L	ENST00000359195	NM_002649.2	324	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5739.1	971	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCACTGG	NONE	.	.	hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34	.	.	ENSP00000352121	.	2/11	.	.	.	.	.	.	.	.	rs760224981	2/11	PASS	ENST00000359195	Transcript	.	.	ENSG00000105851	8978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.613)	.	deleterious(0.02)	.	PK3CG_HUMAN	PIK3CG	HGNC	Q24M88_HUMAN,E9PDN7_HUMAN	.	UPI00000746B8	SNV	PIK3CG,missense_variant,p.Pro324Leu,ENST00000496166,;PIK3CG,missense_variant,p.Pro324Leu,ENST00000359195,;PIK3CG,missense_variant,p.Pro324Leu,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	1281	152	142	SUCCESS
FLNC	2318	.	GRCh37	7	128482322	128482322	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	9	140	1	ENST00000325888.8:c.2159C>T	p.Pro720Leu	p.P720L	ENST00000325888	NM_001458.4	720	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS43644.1	2159	MUTECT|MUSE	.	GATCCCCAACG	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Pfam_domain:PF00630,Gene3D:2.60.40.10,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	14/48	.	.	.	.	.	.	.	.	.	14/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.471)	.	deleterious(0)	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,missense_variant,p.Pro720Leu,ENST00000325888,;FLNC,missense_variant,p.Pro720Leu,ENST00000346177,;FLNC,non_coding_transcript_exon_variant,,ENST00000388853,;	2420	141	123	SUCCESS
C7orf55	0	.	GRCh37	7	139026139	139026139	+	synonymous_variant	Silent	SNP	C	C	T	rs530614678	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	59	0	ENST00000297534.6:c.9C>T	p.Ala3=	p.A3=	ENST00000297534	NM_197964.4	3	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS59084.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCTTAGG	NONE	by1000G	.	.	T:0	.	ENSP00000440222	T:0.001	1/11	.	.	.	.	.	.	.	.	rs530614678	1/11	PASS	ENST00000541515	Transcript	.	T:0.0002	ENSG00000269955	21608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	LUC7L2	HGNC	B3KSP8_HUMAN	.	UPI0001914F36	SNV	LUC7L2,synonymous_variant,p.%3D,ENST00000541515,;C7orf55,synonymous_variant,p.%3D,ENST00000297534,;C7orf55-LUC7L2,intron_variant,,ENST00000541170,;C7orf55,intron_variant,,ENST00000481123,;C7orf55,intron_variant,,ENST00000468383,;C7orf55,intron_variant,,ENST00000488886,;C7orf55,intron_variant,,ENST00000482181,;	34	59	48	SUCCESS
TAS2R41	259287	.	GRCh37	7	143175239	143175239	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	18	129	0	ENST00000408916.1:c.274C>G	p.Leu92Val	p.L92V	ENST00000408916	NM_176883.2	92	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS43663.1	274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCTGAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000386201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408916	Transcript	.	.	ENSG00000221855	18883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	T2R41_HUMAN	TAS2R41	HGNC	.	.	UPI000000D823	SNV	TAS2R41,missense_variant,p.Leu92Val,ENST00000408916,;EPHA1-AS1,intron_variant,,ENST00000429289,;	274	129	119	SUCCESS
FAM115A	0	.	GRCh37	7	143555983	143555983	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	37	0	ENST00000479870.1:c.2439C>A	p.Ile813=	p.I813=	ENST00000479870	NM_014719.2	813	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS5886.1	2439	RADIA|VARSCANS	.	AGGTAGATTCT	NONE	.	.	hmmpanther:PTHR15730:SF1,hmmpanther:PTHR15730,Pfam_domain:PF13402	.	.	ENSP00000419235	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000479870	Transcript	.	.	ENSG00000198420	22201	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F115A_HUMAN	FAM115A	HGNC	C9K0E7_HUMAN,C9JD13_HUMAN,C9J9F4_HUMAN,C9J648_HUMAN,B7Z246_HUMAN	.	UPI000013CEDB	SNV	FAM115A,synonymous_variant,p.%3D,ENST00000355951,;FAM115A,synonymous_variant,p.%3D,ENST00000479870,;FAM115A,non_coding_transcript_exon_variant,,ENST00000392900,;	2648	37	23	SUCCESS
OR2A14	135941	.	GRCh37	7	143826880	143826880	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	17	157	0	ENST00000408899.2:c.675G>T	p.Leu225Phe	p.L225F	ENST00000408899	NM_001001659.1	225	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS43672.1	675	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGAGGAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF27,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000386137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408899	Transcript	.	.	ENSG00000221938	15084	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.795)	.	deleterious(0)	.	O2A14_HUMAN	OR2A14	HGNC	.	.	UPI0000061E6E	SNV	OR2A14,missense_variant,p.Leu225Phe,ENST00000408899,;	730	157	160	SUCCESS
VIPR2	7434	.	GRCh37	7	158851225	158851225	+	synonymous_variant	Silent	SNP	G	G	A	rs547418694	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	73	0	ENST00000262178.2:c.402C>T	p.Tyr134=	p.Y134=	ENST00000262178	NM_003382.4	134	taC/taT	0	.	A:0.0008	.	A:0	.	A	Y	protein_coding	YES	CCDS5950.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGTAGCC	NONE	by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,Pfam_domain:PF00002,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Superfamily_domains:SSF111418,Prints_domain:PR00249	A:0	.	ENSP00000262178	A:0	5/13	.	.	.	.	.	.	.	.	rs547418694	5/13	PASS	ENST00000262178	Transcript	.	A:0.0002	ENSG00000106018	12695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	VIPR2_HUMAN	VIPR2	HGNC	Q71V81_HUMAN	.	UPI0000055A9A	SNV	VIPR2,synonymous_variant,p.%3D,ENST00000262178,;VIPR2,synonymous_variant,p.%3D,ENST00000377633,;VIPR2,synonymous_variant,p.%3D,ENST00000402066,;	588	73	51	SUCCESS
HOXA6	3203	.	GRCh37	7	27186959	27186959	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	81	1	ENST00000222728.3:c.410A>T	p.Tyr137Phe	p.Y137F	ENST00000222728	NM_024014.3	137	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS5407.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGTAAACC	NONE	.	.	Prints_domain:PR00025,Superfamily_domains:SSF46689,PROSITE_patterns:PS00032,hmmpanther:PTHR24326:SF142,hmmpanther:PTHR24326	.	.	ENSP00000222728	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222728	Transcript	.	.	ENSG00000106006	5107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.06)	.	HXA6_HUMAN	HOXA6	HGNC	.	.	UPI000012CF32	SNV	HOXA6,missense_variant,p.Tyr137Phe,ENST00000222728,;HOXA5,upstream_gene_variant,,ENST00000222726,;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	435	82	75	SUCCESS
CALCR	799	.	GRCh37	7	93055779	93055779	+	synonymous_variant	Silent	SNP	G	G	A	rs145853724	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	5	120	0	ENST00000359558.2:c.1416C>T	p.Ile472=	p.I472=	ENST00000359558	NM_001164737.1	472	atC/atT	0	A:0	.	.	.	.	A	I	protein_coding	YES	CCDS55125.1	1416	MUTECT|MUSE	.	ATTGGGATGTC	NONE	byCluster	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Prints_domain:PR00361	.	A:0.0001	ENSP00000352561	.	16/16	.	.	.	.	.	.	.	.	rs145853724	16/16	PASS	ENST00000359558	Transcript	.	.	ENSG00000004948	1440	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CALCR	HGNC	.	.	UPI0001B8380B	SNV	CALCR,synonymous_variant,p.%3D,ENST00000421592,;CALCR,synonymous_variant,p.%3D,ENST00000426151,;CALCR,synonymous_variant,p.%3D,ENST00000394441,;CALCR,synonymous_variant,p.%3D,ENST00000359558,;CALCR,synonymous_variant,p.%3D,ENST00000360249,;CALCR,3_prime_UTR_variant,,ENST00000415529,;CALCR,3_prime_UTR_variant,,ENST00000423724,;	1716	120	84	SUCCESS
LMTK2	22853	.	GRCh37	7	97821009	97821009	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs531778656	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	117	0	ENST00000297293.5:c.1232G>A	p.Arg411Gln	p.R411Q	ENST00000297293	NM_014916.3	411	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS5654.1	1232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGGCTGC	NONE	by1000G	.	hmmpanther:PTHR24416:SF265,hmmpanther:PTHR24416,Superfamily_domains:SSF56112	A:0	.	ENSP00000297293	A:0	11/14	.	.	.	.	.	.	.	.	rs531778656	11/14	PASS	ENST00000297293	Transcript	.	A:0.0002	ENSG00000164715	17880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	A:0.001	deleterious(0.01)	.	LMTK2_HUMAN	LMTK2	HGNC	.	.	UPI000014F277	SNV	LMTK2,missense_variant,p.Arg411Gln,ENST00000297293,;	1525	117	79	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110539193	110539193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	114	0	ENST00000378402.5:c.12665G>T	p.Arg4222Ile	p.R4222I	ENST00000378402	NM_177531.4	4222	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS47911.1	12665	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAATGT	NONE	.	.	.	.	.	ENSP00000367655	.	77/78	.	.	.	.	.	.	.	.	.	77/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.203)	.	deleterious_low_confidence(0.01)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Arg1150Ile,ENST00000526472,;PKHD1L1,missense_variant,p.Arg4222Ile,ENST00000378402,;PKHD1L1,non_coding_transcript_exon_variant,,ENST00000534623,;	12769	114	99	SUCCESS
TMEM71	137835	.	GRCh37	8	133734357	133734357	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	33	269	2	ENST00000356838.3:c.624C>A	p.Thr208=	p.T208=	ENST00000356838	NM_144649.2	208	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6366.1	624	RADIA|VARSCANS	.	AACCTGGTTTC	NONE	.	.	.	.	.	ENSP00000349296	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000356838	Transcript	.	.	ENSG00000165071	26572	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM71_HUMAN	TMEM71	HGNC	E5RH69_HUMAN,E5RGD3_HUMAN	.	UPI000013E44E	SNV	TMEM71,synonymous_variant,p.%3D,ENST00000356838,;TMEM71,synonymous_variant,p.%3D,ENST00000523829,;TMEM71,synonymous_variant,p.%3D,ENST00000377901,;TMEM71,synonymous_variant,p.%3D,ENST00000522780,;	767	271	196	SUCCESS
TMEM71	137835	.	GRCh37	8	133734358	133734358	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	34	268	1	ENST00000356838.3:c.623C>A	p.Thr208Asn	p.T208N	ENST00000356838	NM_144649.2	208	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS6366.1	623	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGTTTCT	NONE	.	.	.	.	.	ENSP00000349296	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000356838	Transcript	.	.	ENSG00000165071	26572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.668)	.	deleterious(0.01)	.	TMM71_HUMAN	TMEM71	HGNC	E5RH69_HUMAN,E5RGD3_HUMAN	.	UPI000013E44E	SNV	TMEM71,missense_variant,p.Thr208Asn,ENST00000356838,;TMEM71,missense_variant,p.Thr227Asn,ENST00000523829,;TMEM71,missense_variant,p.Thr164Asn,ENST00000377901,;TMEM71,missense_variant,p.Thr65Asn,ENST00000522780,;	766	269	194	SUCCESS
ZNF250	58500	.	GRCh37	8	146107239	146107239	+	synonymous_variant	Silent	SNP	C	C	T	rs1406891998	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	49	183	0	ENST00000292579.7:c.1344G>A	p.Glu448=	p.E448=	ENST00000292579	NM_021061.4	448	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34972.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCTCCCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF112,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000292579	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292579	Transcript	.	.	ENSG00000196150	13044	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN250_HUMAN	ZNF250	HGNC	.	.	UPI0000197F51	SNV	ZNF250,synonymous_variant,p.%3D,ENST00000292579,;ZNF250,synonymous_variant,p.%3D,ENST00000417550,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;ZNF250,intron_variant,,ENST00000533543,;	1461	183	157	SUCCESS
ESCO2	157570	.	GRCh37	8	27645507	27645507	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	61	0	ENST00000305188.8:c.1119C>G	p.Asp373Glu	p.D373E	ENST00000305188	NM_001017420.2	373	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS34872.1	1119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGACCAGCT	NONE	.	.	hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF28	.	.	ENSP00000306999	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000305188	Transcript	1	.	ENSG00000171320	27230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0.05)	.	ESCO2_HUMAN	ESCO2	HGNC	E5RIE3_HUMAN,E5RFP7_HUMAN	.	UPI0000160D17	SNV	ESCO2,missense_variant,p.Asp373Glu,ENST00000305188,;ESCO2,missense_variant,p.Asp78Glu,ENST00000518262,;ESCO2,missense_variant,p.Asp21Glu,ENST00000397418,;ESCO2,3_prime_UTR_variant,,ENST00000522378,;	1357	61	54	SUCCESS
ZMAT4	79698	.	GRCh37	8	40554844	40554844	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	111	0	ENST00000297737.6:c.269C>T	p.Ala90Val	p.A90V	ENST00000297737	NM_024645.2	90	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34885.1	269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCGGCCACC	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19,PROSITE_patterns:PS00028,Pfam_domain:PF12874,SMART_domains:SM00451,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000297737	.	4/7	.	.	.	.	.	.	.	.	COSM258417	4/7	PASS	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,missense_variant,p.Ala90Val,ENST00000297737,;ZMAT4,missense_variant,p.Ala90Val,ENST00000519406,;ZMAT4,missense_variant,p.Ala90Val,ENST00000315769,;ZMAT4,3_prime_UTR_variant,,ENST00000523542,;ZMAT4,3_prime_UTR_variant,,ENST00000523188,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000519806,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000518242,;	416	111	117	SUCCESS
CHRNA6	8973	.	GRCh37	8	42611206	42611206	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	37	108	0	ENST00000276410.2:c.1136C>A	p.Ala379Asp	p.A379D	ENST00000276410	NM_004198.3	379	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS6135.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGCAGGC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF82,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	.	.	ENSP00000276410	.	5/6	.	.	.	.	.	.	.	.	COSM3900313	5/6	PASS	ENST00000276410	Transcript	.	.	ENSG00000147434	15963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.45)	1	ACHA6_HUMAN	CHRNA6	HGNC	E9PP97_HUMAN	.	UPI0000061DF6	SNV	CHRNA6,missense_variant,p.Ala379Asp,ENST00000276410,;CHRNA6,missense_variant,p.Ala364Asp,ENST00000534622,;CHRNA6,downstream_gene_variant,,ENST00000533810,;CHRNA6,downstream_gene_variant,,ENST00000530869,;	1492	108	115	SUCCESS
TRPA1	8989	.	GRCh37	8	72975703	72975703	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1002728997	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	66	0	ENST00000262209.4:c.656G>A	p.Arg219Lys	p.R219K	ENST00000262209	NM_007332.2	219	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS34908.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACCTTAGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Arg71Lys,ENST00000523582,;TRPA1,missense_variant,p.Arg219Lys,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519068,;	864	66	41	SUCCESS
PAPPA	5069	.	GRCh37	9	118950193	118950193	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	41	125	0	ENST00000328252.3:c.1176C>G	p.Ser392=	p.S392=	ENST00000328252	NM_002581.3	392	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6813.1	1176	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCTGGGA	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000330658	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,synonymous_variant,p.%3D,ENST00000328252,;PAPPA,upstream_gene_variant,,ENST00000534838,;	1545	125	144	SUCCESS
FNBP1	23048	.	GRCh37	9	132691907	132691907	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	42	195	0	ENST00000446176.2:c.581T>C	p.Leu194Pro	p.L194P	ENST00000446176	NM_015033.2	194	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS48040.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAGAATG	NONE	.	.	hmmpanther:PTHR12602:SF21,hmmpanther:PTHR12602,Gene3D:3.40.50.620,Superfamily_domains:SSF103657	.	.	ENSP00000413625	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000446176	Transcript	.	.	ENSG00000187239	17069	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FNBP1_HUMAN	FNBP1	HGNC	B7ZL12_HUMAN	.	UPI000022408C	SNV	FNBP1,missense_variant,p.Leu194Pro,ENST00000355681,;FNBP1,missense_variant,p.Leu156Pro,ENST00000449089,;FNBP1,missense_variant,p.Leu194Pro,ENST00000420781,;FNBP1,missense_variant,p.Leu194Pro,ENST00000446176,;RP11-409K20.6,upstream_gene_variant,,ENST00000414926,;FNBP1,upstream_gene_variant,,ENST00000478129,;FNBP1,upstream_gene_variant,,ENST00000482107,;	768	195	177	SUCCESS
FRMPD1	22844	.	GRCh37	9	37746731	37746731	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	121	0	ENST00000377765.3:c.4702T>G	p.Leu1568Val	p.L1568V	ENST00000377765	NM_014907.2	1568	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS6612.1	4702	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTTTGACC	NONE	.	.	hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436	.	.	ENSP00000444411	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000539465	Transcript	.	.	ENSG00000070601	29159	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FRPD1_HUMAN	FRMPD1	HGNC	F5H0G3_HUMAN	.	UPI000013D2CC	SNV	FRMPD1,missense_variant,p.Leu1568Val,ENST00000539465,;FRMPD1,missense_variant,p.Leu1568Val,ENST00000377765,;RP11-613M10.9,intron_variant,,ENST00000540557,;	5295	121	107	SUCCESS
TRPM6	140803	.	GRCh37	9	77354337	77354337	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs201318772	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	16	225	1	ENST00000360774.1:c.5516A>T	p.Lys1839Ile	p.K1839I	ENST00000360774	NM_017662.4	1839	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS6647.1	5516	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATTTTTGA	NONE	.	.	PROSITE_profiles:PS51158,hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800,Pfam_domain:PF02816,Gene3D:3.30.200.20,SMART_domains:SM00811,Superfamily_domains:SSF56112	.	.	ENSP00000354006	.	35/39	.	.	.	.	.	.	.	.	rs201318772	35/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Lys1843Ile,ENST00000451710,;TRPM6,missense_variant,p.Lys1834Ile,ENST00000449912,;TRPM6,missense_variant,p.Lys676Ile,ENST00000376871,;TRPM6,missense_variant,p.Lys1834Ile,ENST00000361255,;TRPM6,missense_variant,p.Lys1843Ile,ENST00000376864,;TRPM6,missense_variant,p.Lys794Ile,ENST00000376872,;TRPM6,missense_variant,p.Lys1839Ile,ENST00000360774,;	5754	226	171	SUCCESS
SLC28A3	64078	.	GRCh37	9	86905113	86905113	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	23	134	0	ENST00000376238.4:c.1105T>C	p.Ser369Pro	p.S369P	ENST00000376238	NM_001199633.1	369	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS6670.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGAGAACC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590,TIGRFAM_domain:TIGR00804,Pfam_domain:PF07670	.	.	ENSP00000365413	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000376238	Transcript	.	.	ENSG00000197506	16484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	S28A3_HUMAN	SLC28A3	HGNC	F5GYE3_HUMAN	.	UPI000006F5A6	SNV	SLC28A3,missense_variant,p.Ser369Pro,ENST00000376238,;SLC28A3,missense_variant,p.Ser300Pro,ENST00000537648,;RP11-380F14.2,downstream_gene_variant,,ENST00000419815,;	1155	134	113	SUCCESS
FAM120AOS	158293	.	GRCh37	9	96213566	96213566	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	41	0	ENST00000375412.5:c.564-685T>C		p.*188*	ENST00000375412	NM_198841.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6705.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCATCTTA	NONE	.	.	.	.	.	ENSP00000364561	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375412	Transcript	.	.	ENSG00000188938	23389	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F120S_HUMAN	FAM120AOS	HGNC	.	.	UPI000013F924	SNV	FAM120AOS,5_prime_UTR_variant,,ENST00000423591,;FAM120AOS,intron_variant,,ENST00000375412,;FAM120AOS,upstream_gene_variant,,ENST00000428378,;FAM120A,upstream_gene_variant,,ENST00000340893,;FAM120A,upstream_gene_variant,,ENST00000446420,;FAM120A,upstream_gene_variant,,ENST00000333936,;FAM120A,upstream_gene_variant,,ENST00000375389,;FAM120A,upstream_gene_variant,,ENST00000277165,;FAM120AOS,non_coding_transcript_exon_variant,,ENST00000520403,;FAM120AOS,non_coding_transcript_exon_variant,,ENST00000523407,;FAM120AOS,non_coding_transcript_exon_variant,,ENST00000479094,;FAM120AOS,intron_variant,,ENST00000520470,;FAM120AOS,intron_variant,,ENST00000483149,;FAM120AOS,upstream_gene_variant,,ENST00000428152,;FAM120AOS,upstream_gene_variant,,ENST00000483056,;FAM120AOS,5_prime_UTR_variant,,ENST00000476484,;	.	41	33	SUCCESS
NXF5	55998	.	GRCh37	X	101095492	101095492	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	rs754739466	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	701	22	756	1	ENST00000263032.1:c.677C>T	p.Ser226Leu	p.S226L	ENST00000263032		226	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS14491.2	677	MUTECT|MUSE	.	GGTCCGAGAAG	NONE	byFrequency	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF26,PROSITE_profiles:PS51450	.	.	ENSP00000442401	.	10/16	.	.	.	.	.	.	.	.	rs754739466	10/16	PASS	ENST00000537026	Transcript	.	.	ENSG00000126952	8075	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.14)	.	NXF5_HUMAN	NXF5	HGNC	.	.	UPI0000F059DC	SNV	NXF5,missense_variant,p.Ser226Leu,ENST00000473265,;NXF5,missense_variant,p.Ser226Leu,ENST00000361708,;NXF5,missense_variant,p.Ser226Leu,ENST00000537026,;NXF5,missense_variant,p.Ser163Leu,ENST00000332614,;NXF5,missense_variant,p.Ser163Leu,ENST00000361330,;NXF5,missense_variant,p.Ser226Leu,ENST00000372803,;NXF5,missense_variant,p.Ser226Leu,ENST00000263032,;NXF5,3_prime_UTR_variant,,ENST00000493509,;	1037	757	723	SUCCESS
GPRASP2	114928	.	GRCh37	X	101970175	101970185	+	frameshift_variant	Frame_Shift_Del	DEL	CCAGGCATGGG	CCAGGCATGGG	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	CCAGGCATGGG	CCAGGCATGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	132	0	ENST00000332262.5:c.380_390del	p.Gln127ProfsTer3	p.Q127Pfs*3	ENST00000332262	NM_138437.5	126	gcCCAGGCATGGGcc/gccc	0	.	.	.	.	.	-	AQAWA/AX	protein_coding	YES	CCDS14501.1	378-388	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGGCCCAGGCATGGGCCCAG	NONE	.	.	hmmpanther:PTHR15712:SF10,hmmpanther:PTHR15712	.	.	ENSP00000437872	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000543253	Transcript	.	.	ENSG00000158301	25169	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GASP2_HUMAN	GPRASP2	HGNC	.	.	UPI000006F01A	deletion	GPRASP2,frameshift_variant,p.Gln127ProfsTer3,ENST00000535209,;GPRASP2,frameshift_variant,p.Gln127ProfsTer3,ENST00000332262,;GPRASP2,frameshift_variant,p.Gln127ProfsTer3,ENST00000543253,;GPRASP2,downstream_gene_variant,,ENST00000483720,;RP4-769N13.6,downstream_gene_variant,,ENST00000602366,;RP4-769N13.6,downstream_gene_variant,,ENST00000486740,;RP4-769N13.6,downstream_gene_variant,,ENST00000602463,;GPRASP2,downstream_gene_variant,,ENST00000486814,;	1297-1307	132	105	SUCCESS
MSL3	10943	.	GRCh37	X	11776338	11776338	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs765994824	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	20	0	ENST00000312196.4:c.-45G>A		p.*15*	ENST00000312196	NM_078629.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14147.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGCGCGCGCTC	NONE	.	.	.	.	.	ENSP00000312244	.	1/13	.	.	.	.	.	.	.	.	rs765994824	1/13	PASS	ENST00000312196	Transcript	.	.	ENSG00000005302	7370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MS3L1_HUMAN	MSL3	HGNC	F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN	.	UPI000006E6B7	SNV	MSL3,5_prime_UTR_variant,,ENST00000312196,;MSL3,upstream_gene_variant,,ENST00000380692,;MSL3,upstream_gene_variant,,ENST00000380693,;MSL3,upstream_gene_variant,,ENST00000398527,;MSL3,upstream_gene_variant,,ENST00000476743,;MSL3,upstream_gene_variant,,ENST00000421368,;MSL3,upstream_gene_variant,,ENST00000337339,;MSL3,upstream_gene_variant,,ENST00000361672,;MSL3,upstream_gene_variant,,ENST00000473806,;MSL3,upstream_gene_variant,,ENST00000483645,;MSL3,upstream_gene_variant,,ENST00000494268,;MSL3,upstream_gene_variant,,ENST00000478462,;MSL3,upstream_gene_variant,,ENST00000468149,;MSL3,upstream_gene_variant,,ENST00000482871,;MSL3,upstream_gene_variant,,ENST00000380691,;	61	20	18	SUCCESS
AIFM1	9131	.	GRCh37	X	129264035	129264035	+	synonymous_variant	Silent	SNP	G	G	A	rs776215622	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	184	27	198	0	ENST00000287295.3:c.1680C>T	p.Tyr560=	p.Y560=	ENST00000287295	NM_004208.3	560	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS14618.1	1680	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCGTAGTC	NONE	byFrequency	.	hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF33,Pfam_domain:PF14721,Gene3D:3.30.390.30,Superfamily_domains:SSF55424	.	.	ENSP00000287295	.	15/16	.	.	.	.	.	.	.	.	rs776215622	15/16	PASS	ENST00000287295	Transcript	.	.	ENSG00000156709	8768	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AIFM1_HUMAN	AIFM1	HGNC	E9PMA0_HUMAN	.	UPI00001313DB	SNV	AIFM1,synonymous_variant,p.%3D,ENST00000440263,;AIFM1,synonymous_variant,p.%3D,ENST00000319908,;AIFM1,synonymous_variant,p.%3D,ENST00000287295,;AIFM1,synonymous_variant,p.%3D,ENST00000460436,;AIFM1,synonymous_variant,p.%3D,ENST00000346424,;AIFM1,3_prime_UTR_variant,,ENST00000535724,;AIFM1,3_prime_UTR_variant,,ENST00000416073,;AIFM1,3_prime_UTR_variant,,ENST00000527892,;	1911	198	211	SUCCESS
FAM122B	0	.	GRCh37	X	133927919	133927919	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	41	0	ENST00000343004.5:c.103C>T	p.Leu35Phe	p.L35F	ENST00000343004	NM_001170756.1	35	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS55499.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGGTCAC	NONE	.	.	hmmpanther:PTHR22227:SF1,hmmpanther:PTHR22227	.	.	ENSP00000339207	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000343004	Transcript	.	.	ENSG00000156504	30490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.72)	.	F122B_HUMAN	FAM122B	HGNC	G1UD79_HUMAN	.	UPI00001C0BDC	SNV	FAM122B,missense_variant,p.Leu35Phe,ENST00000370790,;FAM122B,missense_variant,p.Leu35Phe,ENST00000343004,;FAM122B,missense_variant,p.Leu35Phe,ENST00000298090,;FAM122B,missense_variant,p.Leu35Phe,ENST00000486347,;FAM122C,upstream_gene_variant,,ENST00000414371,;FAM122B,non_coding_transcript_exon_variant,,ENST00000467413,;FAM122B,non_coding_transcript_exon_variant,,ENST00000493333,;FAM122B,upstream_gene_variant,,ENST00000465128,;FAM122B,upstream_gene_variant,,ENST00000478384,;	253	41	42	SUCCESS
PTCHD1	139411	.	GRCh37	X	23411941	23411941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	9	112	0	ENST00000379361.4:c.2306C>T	p.Ala769Val	p.A769V	ENST00000379361	NM_173495.2	769	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS35215.2	2306	MUTECT|MUSE|VARSCANS	.	TTGTGCTCCAA	NONE	.	.	Superfamily_domains:SSF82866,Pfam_domain:PF02460,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36,Transmembrane_helices:TMhelix	.	.	ENSP00000368666	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379361	Transcript	.	.	ENSG00000165186	26392	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	PTHD1_HUMAN	PTCHD1	HGNC	.	.	UPI000059DAD8	SNV	PTCHD1,missense_variant,p.Ala769Val,ENST00000379361,;PTCHD1,downstream_gene_variant,,ENST00000456522,;	3166	112	94	SUCCESS
KLHL15	80311	.	GRCh37	X	24006091	24006091	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	333	164	492	2	ENST00000328046.8:c.1762T>G	p.Cys588Gly	p.C588G	ENST00000328046	NM_030624.2	588	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS35217.1	1762	RADIA|SOMATICSNIPER|VARSCANS	.	GTTGCATACTT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF61,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000332791	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328046	Transcript	.	.	ENSG00000174010	29347	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.345)	.	deleterious(0)	.	KLH15_HUMAN	KLHL15	HGNC	.	.	UPI000019832F	SNV	KLHL15,missense_variant,p.Cys588Gly,ENST00000328046,;	2018	494	497	SUCCESS
MXRA5	25878	.	GRCh37	X	3238423	3238423	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	144	0	ENST00000217939.6:c.5303C>G	p.Ser1768Cys	p.S1768C	ENST00000217939	NM_015419.3	1768	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS14124.1	5303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGAACCT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	deleterious(0.02)	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Ser1768Cys,ENST00000217939,;	5458	144	103	SUCCESS
MXRA5	25878	.	GRCh37	X	3261758	3261758	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	423	229	668	2	ENST00000217939.6:c.117C>A	p.Val39=	p.V39=	ENST00000217939	NM_015419.3	39	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14124.1	117	RADIA|SOMATICSNIPER|VARSCANS	.	CAGTGGACCTC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000217939	.	2/7	.	.	.	.	.	.	.	.	COSM1467699,COSM1467700	2/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,synonymous_variant,p.%3D,ENST00000217939,;	272	670	653	SUCCESS
FAM47A	158724	.	GRCh37	X	34149907	34149907	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	10	208	0	ENST00000346193.3:c.489G>T	p.Trp163Cys	p.W163C	ENST00000346193	NM_203408.3	163	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS43926.1	489	MUTECT|MUSE	.	CAAGCCCAAGC	NONE	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	tolerated(0.08)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Trp163Cys,ENST00000346193,;	541	208	134	SUCCESS
GPR34	2857	.	GRCh37	X	41555817	41555817	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	137	0	ENST00000378138.5:c.931A>T	p.Ile311Phe	p.I311F	ENST00000378138		311	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS14258.1	931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGATCATG	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24233:SF1,hmmpanther:PTHR24233,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000367384	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000378142	Transcript	.	.	ENSG00000171659	4490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0)	.	GPR34_HUMAN	GPR34	HGNC	Q5VT14_HUMAN,Q3SAH0_HUMAN	.	UPI000005044D	SNV	GPR34,missense_variant,p.Ile311Phe,ENST00000378138,;GPR34,missense_variant,p.Ile311Phe,ENST00000378142,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;	1215	137	99	SUCCESS
PHF8	23133	.	GRCh37	X	54011484	54011484	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1557099111	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	42	156	1	ENST00000357988.5:c.2414C>T	p.Pro805Leu	p.P805L	ENST00000357988	NM_001184896.1	805	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS55420.1	2414	RADIA|SOMATICSNIPER|VARSCANS	.	AAGCAGGACTG	NONE	.	.	hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11	.	.	ENSP00000350676	.	18/22	.	.	.	.	.	.	.	.	COSM1734872,COSM1734873,COSM1734871	18/22	PASS	ENST00000357988	Transcript	.	.	ENSG00000172943	20672	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	benign(0.002)	.	tolerated(0.23)	1,1,1	PHF8_HUMAN	PHF8	HGNC	Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN	.	UPI00001C2071	SNV	PHF8,missense_variant,p.Pro533Leu,ENST00000443302,;PHF8,missense_variant,p.Pro673Leu,ENST00000396282,;PHF8,missense_variant,p.Pro752Leu,ENST00000322659,;PHF8,missense_variant,p.Pro805Leu,ENST00000357988,;PHF8,missense_variant,p.Pro769Leu,ENST00000338154,;PHF8,missense_variant,p.Pro668Leu,ENST00000338946,;PHF8,downstream_gene_variant,,ENST00000494928,;	2773	157	127	SUCCESS
SHROOM2	357	.	GRCh37	X	9841727	9841727	+	synonymous_variant	Silent	SNP	G	G	A	rs879221119	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	53	245	1	ENST00000380913.3:c.201G>A	p.Lys67=	p.K67=	ENST00000380913	NM_001649.2	67	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS14135.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAGTTACT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000370299	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000380913	Transcript	.	.	ENSG00000146950	630	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHRM2_HUMAN	SHROOM2	HGNC	F5H3B6_HUMAN,C9IZC6_HUMAN	.	UPI0000125D05	SNV	SHROOM2,synonymous_variant,p.%3D,ENST00000380913,;Y_RNA,downstream_gene_variant,,ENST00000384117,;	291	247	179	SUCCESS
LBX1	10660	.	GRCh37	10	102988554	102988554	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771528976	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	29	0	ENST00000370193.2:c.19G>T	p.Gly7Cys	p.G7C	ENST00000370193	NM_006562.4	7	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31270.1	19	MUTECT|MUSE	.	CTTGCCGTCCT	NONE	.	.	hmmpanther:PTHR24336:SF7,hmmpanther:PTHR24336	.	.	ENSP00000359212	.	1/2	.	.	.	.	.	.	.	.	rs771528976	1/2	PASS	ENST00000370193	Transcript	.	.	ENSG00000138136	16960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.59)	.	deleterious_low_confidence(0.05)	.	LBX1_HUMAN	LBX1	HGNC	Q6LBH2_HUMAN	.	UPI00001F95A1	SNV	LBX1,missense_variant,p.Gly7Cys,ENST00000370193,;LBX1-AS1,upstream_gene_variant,,ENST00000546988,;LBX1-AS1,upstream_gene_variant,,ENST00000547077,;LBX1-AS1,upstream_gene_variant,,ENST00000454527,;	998	29	46	SUCCESS
SH3PXD2A	9644	.	GRCh37	10	105362908	105362908	+	synonymous_variant	Silent	SNP	G	G	T	rs914674678	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	27	0	ENST00000369774.4:c.2067C>A	p.Ser689=	p.S689=	ENST00000369774		689	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS31278.1	1983	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGGAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7	.	.	ENSP00000348215	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000355946	Transcript	.	.	ENSG00000107957	23664	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPD2A_HUMAN	SH3PXD2A	HGNC	.	.	UPI000041B175	SNV	SH3PXD2A,synonymous_variant,p.%3D,ENST00000540321,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000538130,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000420222,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000369774,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000355946,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;	2123	27	49	SUCCESS
PARD3	56288	.	GRCh37	10	34671814	34671814	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	16	209	0	ENST00000374789.3:c.1053C>T	p.Pro351=	p.P351=	ENST00000374789	NM_019619.3	351	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7178.1	1053	MUTECT|MUSE	.	ATGATGGGTGT	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000363921	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,synonymous_variant,p.%3D,ENST00000545260,;PARD3,synonymous_variant,p.%3D,ENST00000545693,;PARD3,synonymous_variant,p.%3D,ENST00000374788,;PARD3,synonymous_variant,p.%3D,ENST00000544292,;PARD3,synonymous_variant,p.%3D,ENST00000340077,;PARD3,synonymous_variant,p.%3D,ENST00000374790,;PARD3,synonymous_variant,p.%3D,ENST00000374776,;PARD3,synonymous_variant,p.%3D,ENST00000374773,;PARD3,synonymous_variant,p.%3D,ENST00000374794,;PARD3,synonymous_variant,p.%3D,ENST00000350537,;PARD3,synonymous_variant,p.%3D,ENST00000374789,;PARD3,synonymous_variant,p.%3D,ENST00000346874,;	1379	209	223	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37506628	37506628	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746152021	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	52	0	ENST00000361713.1:c.2921C>T	p.Thr974Ile	p.T974I	ENST00000361713	NM_052997.2	974	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7193.1	2921	MUTECT|MUSE	.	ATTGACTTTAA	NONE	byFrequency	.	.	.	.	ENSP00000354432	.	33/36	.	.	.	.	.	.	.	.	rs746152021	33/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.86)	.	deleterious(0.01)	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,missense_variant,p.Thr1093Ile,ENST00000374660,;ANKRD30A,missense_variant,p.Thr974Ile,ENST00000361713,;ANKRD30A,missense_variant,p.Thr974Ile,ENST00000602533,;	3020	52	61	SUCCESS
PCDH15	65217	.	GRCh37	10	55719518	55719518	+	synonymous_variant	Silent	SNP	G	G	A	rs370200250	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	49	0	ENST00000320301.6:c.3096C>T	p.Ile1032=	p.I1032=	ENST00000320301	NM_033056.3	1032	atC/atT	0	T:0	.	.	.	.	A	I	protein_coding	YES	CCDS44404.1	3096	MUTECT|MUSE|VARSCANS	.	CGTGGGATCTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	T:0.0001	ENSP00000354950	.	23/34	.	.	.	.	.	.	.	.	rs370200250	23/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000409834,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395438,;PCDH15,synonymous_variant,p.%3D,ENST00000414778,;PCDH15,synonymous_variant,p.%3D,ENST00000373965,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	3491	49	63	SUCCESS
BTAF1	9044	.	GRCh37	10	93749020	93749020	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	63	0	ENST00000265990.6:c.2537A>G	p.Asn846Ser	p.N846S	ENST00000265990	NM_003972.2	846	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7419.1	2537	MUTECT|MUSE	.	GACCAACCAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12054,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	20/38	.	.	.	.	.	.	.	.	.	20/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(1)	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,missense_variant,p.Asn846Ser,ENST00000265990,;BTAF1,non_coding_transcript_exon_variant,,ENST00000471217,;	2845	63	100	SUCCESS
KRTAP5-2	440021	.	GRCh37	11	1619335	1619335	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	13	123	0	ENST00000412090.1:c.146G>A	p.Cys49Tyr	p.C49Y	ENST00000412090	NM_001004325.1	49	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31331.1	146	MUTECT|MUSE|VARSCANS	.	CCCCACAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF29	.	.	ENSP00000400041	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000412090	Transcript	.	.	ENSG00000205867	23597	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	KRA52_HUMAN	KRTAP5-2	HGNC	.	.	UPI0000241C20	SNV	KRTAP5-2,missense_variant,p.Cys49Tyr,ENST00000412090,;KRTAP5-AS1,non_coding_transcript_exon_variant,,ENST00000424148,;KRTAP5-AS1,downstream_gene_variant,,ENST00000534077,;KRTAP5-AS1,downstream_gene_variant,,ENST00000532922,;KRTAP5-AS1,downstream_gene_variant,,ENST00000524947,;	190	123	151	SUCCESS
ANO4	121601	.	GRCh37	12	101520845	101520845	+	synonymous_variant	Silent	SNP	G	G	A	rs779812218	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	136	1	ENST00000392977.3:c.2865G>A	p.Pro955=	p.P955=	ENST00000392977	NM_001286615.1	955	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31884.1	2760	MUTECT|MUSE	.	TGGCCGTGACC	NONE	byFrequency	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	26/27	.	.	.	.	.	.	.	.	rs779812218	26/27	PASS	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,synonymous_variant,p.%3D,ENST00000550015,;ANO4,synonymous_variant,p.%3D,ENST00000299222,;ANO4,synonymous_variant,p.%3D,ENST00000392977,;ANO4,synonymous_variant,p.%3D,ENST00000392979,;	3121	137	161	SUCCESS
DENND5B	160518	.	GRCh37	12	31552686	31552686	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	9	136	0	ENST00000389082.5:c.2970G>T	p.Leu990=	p.L990=	ENST00000389082	NM_144973.3	990	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44857.1	2970	MUTECT|MUSE	.	GTGGTCAGCTT	NONE	.	.	Superfamily_domains:SSF49723,Gene3D:2.60.60.20,Pfam_domain:PF01477,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50095	.	.	ENSP00000373734	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,synonymous_variant,p.%3D,ENST00000536562,;DENND5B,synonymous_variant,p.%3D,ENST00000306833,;DENND5B,synonymous_variant,p.%3D,ENST00000389082,;RNU6-618P,downstream_gene_variant,,ENST00000363518,;	3235	136	188	SUCCESS
KRT73	319101	.	GRCh37	12	53004991	53004991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	13	111	0	ENST00000305748.3:c.1107G>T	p.Lys369Asn	p.K369N	ENST00000305748	NM_175068.2	369	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS8834.1	1107	MUTECT|MUSE|VARSCANS	.	ACCTGCTTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000307014	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,missense_variant,p.Lys114Asn,ENST00000552855,;KRT73,missense_variant,p.Lys369Asn,ENST00000305748,;RP11-641A6.2,non_coding_transcript_exon_variant,,ENST00000552364,;RP11-641A6.2,intron_variant,,ENST00000551089,;RP11-641A6.2,upstream_gene_variant,,ENST00000549180,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	1142	112	140	SUCCESS
USP5	8078	.	GRCh37	12	6975155	6975155	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	6	96	0	ENST00000229268.8:c.2491A>T	p.Ile831Phe	p.I831F	ENST00000229268	NM_001098536.1	831	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS41743.1	2491	MUTECT|MUSE	.	GGGTGATCTAC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001	.	.	ENSP00000229268	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,missense_variant,p.Ile831Phe,ENST00000229268,;USP5,missense_variant,p.Ile808Phe,ENST00000389231,;TPI1,upstream_gene_variant,,ENST00000396705,;TPI1,upstream_gene_variant,,ENST00000488464,;TPI1,upstream_gene_variant,,ENST00000495834,;TPI1,upstream_gene_variant,,ENST00000493987,;USP5,downstream_gene_variant,,ENST00000542087,;TPI1,upstream_gene_variant,,ENST00000229270,;SPSB2,downstream_gene_variant,,ENST00000523102,;TPI1,upstream_gene_variant,,ENST00000535434,;TPI1,upstream_gene_variant,,ENST00000462761,;SPSB2,downstream_gene_variant,,ENST00000524270,;USP5,downstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000542371,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;TPI1,upstream_gene_variant,,ENST00000482209,;TPI1,upstream_gene_variant,,ENST00000474253,;	2543	96	139	SUCCESS
RPS4XP16	220433	.	GRCh37	13	52034979	52034979	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	39	0	ENST00000595905.1:n.338G>A		p.*113*	ENST00000595905				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGAGTCT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000595905	Transcript	.	.	ENSG00000224892	36365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RPS4XP16	HGNC	.	.	.	SNV	INTS6-AS1,intron_variant,,ENST00000597745,;INTS6-AS1,intron_variant,,ENST00000595997,;INTS6-AS1,intron_variant,,ENST00000601572,;INTS6-AS1,intron_variant,,ENST00000596050,;INTS6-AS1,intron_variant,,ENST00000602089,;INTS6-AS1,intron_variant,,ENST00000594604,;INTS6-AS1,intron_variant,,ENST00000593709,;INTS6-AS1,intron_variant,,ENST00000593429,;INTS6-AS1,intron_variant,,ENST00000601318,;INTS6-AS1,intron_variant,,ENST00000598864,;INTS6-AS1,intron_variant,,ENST00000593672,;INTS6-AS1,intron_variant,,ENST00000594358,;INTS6-AS1,intron_variant,,ENST00000595424,;INTS6-AS1,intron_variant,,ENST00000595435,;INTS6-AS1,intron_variant,,ENST00000434512,;INTS6-AS1,intron_variant,,ENST00000594488,;INTS6-AS1,intron_variant,,ENST00000600477,;INTS6-AS1,intron_variant,,ENST00000594959,;INTS6-AS1,intron_variant,,ENST00000593928,;INTS6-AS1,intron_variant,,ENST00000601034,;INTS6-AS1,intron_variant,,ENST00000596180,;INTS6-AS1,intron_variant,,ENST00000599315,;INTS6-AS1,intron_variant,,ENST00000596303,;RPS4XP16,non_coding_transcript_exon_variant,,ENST00000595905,;RPS4XP16,non_coding_transcript_exon_variant,,ENST00000596904,;RPS4XP16,non_coding_transcript_exon_variant,,ENST00000427198,;	338	39	37	SUCCESS
SPATA7	55812	.	GRCh37	14	88904449	88904449	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1284148609	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	76	0	ENST00000393545.4:c.1483A>G	p.Ile495Val	p.I495V	ENST00000393545	NM_018418.4	495	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9883.1	1483	MUTECT|MUSE|VARSCANS	.	TGCCTATTTAT	NONE	.	.	hmmpanther:PTHR14917	.	.	ENSP00000377176	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000393545	Transcript	.	.	ENSG00000042317	20423	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.41)	.	SPAT7_HUMAN	SPATA7	HGNC	.	.	UPI00000712C7	SNV	SPATA7,missense_variant,p.Ile463Val,ENST00000356583,;SPATA7,missense_variant,p.Ile495Val,ENST00000393545,;SPATA7,missense_variant,p.Ile463Val,ENST00000556553,;SPATA7,intron_variant,,ENST00000554802,;SPATA7,intron_variant,,ENST00000045347,;SPATA7,intron_variant,,ENST00000556406,;SPATA7,non_coding_transcript_exon_variant,,ENST00000556666,;SPATA7,non_coding_transcript_exon_variant,,ENST00000553626,;SPATA7,downstream_gene_variant,,ENST00000553303,;	1772	76	107	SUCCESS
SYNE3	161176	.	GRCh37	14	95916270	95916270	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs201231576	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	20	268	0	ENST00000334258.5:c.1447G>A	p.Glu483Lys	p.E483K	ENST00000334258	NM_152592.3	483	Gag/Aag	0	G:0.0005	G:0.003	.	G:0	.	T	E/K	protein_coding	YES	CCDS9935.1	1447	MUTECT|MUSE	.	TACCTCGATCT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	G:0	G:0	ENSP00000334308	G:0	7/17	.	.	.	.	.	.	.	.	rs201231576	7/17	PASS	ENST00000334258	Transcript	.	G:0.0008	ENSG00000176438	19861	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.334)	G:0	deleterious(0.05)	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,missense_variant,p.Glu240Lys,ENST00000554873,;SYNE3,missense_variant,p.Glu483Lys,ENST00000334258,;SYNE3,missense_variant,p.Glu483Lys,ENST00000557275,;SYNE3,missense_variant,p.Glu483Lys,ENST00000553340,;SYNE3,splice_region_variant,,ENST00000555759,;	1462	268	293	SUCCESS
AC004381.6	0	.	GRCh37	16	20817829	20817829	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	28	0	ENST00000261377.6:c.-201C>G		p.*67*	ENST00000261377	NM_030941.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10591.1	.	MUTECT|MUSE|VARSCANS	.	AAGCCCGCGAG	NONE	.	.	.	.	.	ENSP00000261377	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000261377	Transcript	.	.	ENSG00000005189	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REXON_HUMAN	AC004381.6	Clone_based_vega_gene	H3BV93_HUMAN,H3BUT7_HUMAN,H3BSE4_HUMAN,H3BSC5_HUMAN,H3BR13_HUMAN,H3BQ98_HUMAN,H3BPB2_HUMAN,H3BM72_HUMAN	.	UPI0000073454	SNV	AC004381.6,5_prime_UTR_variant,,ENST00000568046,;ERI2,5_prime_UTR_variant,,ENST00000563117,;AC004381.6,5_prime_UTR_variant,,ENST00000261377,;ERI2,intron_variant,,ENST00000564349,;AC004381.6,intron_variant,,ENST00000568894,;AC004381.6,upstream_gene_variant,,ENST00000568647,;AC004381.6,upstream_gene_variant,,ENST00000564274,;ERI2,upstream_gene_variant,,ENST00000569729,;AC004381.6,upstream_gene_variant,,ENST00000563068,;AC004381.6,upstream_gene_variant,,ENST00000566276,;AC004381.6,upstream_gene_variant,,ENST00000568501,;ERI2,upstream_gene_variant,,ENST00000389345,;AC004381.6,upstream_gene_variant,,ENST00000565340,;ERI2,upstream_gene_variant,,ENST00000357967,;AC004381.6,upstream_gene_variant,,ENST00000563617,;ERI2,upstream_gene_variant,,ENST00000300005,;AC004381.6,upstream_gene_variant,,ENST00000348433,;ERI2,upstream_gene_variant,,ENST00000568251,;ERI2,upstream_gene_variant,,ENST00000563537,;ERI2,upstream_gene_variant,,ENST00000565884,;AC004381.6,upstream_gene_variant,,ENST00000568476,;ERI2,upstream_gene_variant,,ENST00000566223,;ERI2,upstream_gene_variant,,ENST00000567562,;ERI2,upstream_gene_variant,,ENST00000562277,;AC004381.6,upstream_gene_variant,,ENST00000567297,;AC004381.6,5_prime_UTR_variant,,ENST00000566993,;ERI2,upstream_gene_variant,,ENST00000568805,;AC004381.6,upstream_gene_variant,,ENST00000566518,;ERI2,upstream_gene_variant,,ENST00000567859,;	9	28	27	SUCCESS
PAQR4	124222	.	GRCh37	16	3021213	3021213	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751635157	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	105	0	ENST00000318782.8:c.222G>T	p.Gln74His	p.Q74H	ENST00000318782	NM_152341.3	74	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS10485.1	222	MUTECT|MUSE	.	GGTCAGCTGGG	NONE	.	.	Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF30	.	.	ENSP00000321804	.	2/3	.	.	.	.	.	.	.	.	rs751635157	2/3	PASS	ENST00000318782	Transcript	.	.	ENSG00000162073	26386	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.819)	.	tolerated(0.06)	.	PAQR4_HUMAN	PAQR4	HGNC	I3L1A2_HUMAN	.	UPI0000072F38	SNV	PAQR4,missense_variant,p.Gln7His,ENST00000576565,;PAQR4,missense_variant,p.Gln7His,ENST00000574988,;PAQR4,missense_variant,p.Gln74His,ENST00000318782,;PKMYT1,intron_variant,,ENST00000431515,;PAQR4,intron_variant,,ENST00000572687,;PAQR4,intron_variant,,ENST00000293978,;KREMEN2,downstream_gene_variant,,ENST00000303746,;PKMYT1,downstream_gene_variant,,ENST00000574415,;PKMYT1,downstream_gene_variant,,ENST00000262300,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000573944,;PKMYT1,downstream_gene_variant,,ENST00000576268,;PKMYT1,downstream_gene_variant,,ENST00000440027,;KREMEN2,downstream_gene_variant,,ENST00000571007,;KREMEN2,downstream_gene_variant,,ENST00000319500,;KREMEN2,downstream_gene_variant,,ENST00000572045,;KREMEN2,downstream_gene_variant,,ENST00000575885,;PKMYT1,downstream_gene_variant,,ENST00000574730,;PKMYT1,downstream_gene_variant,,ENST00000572059,;KREMEN2,downstream_gene_variant,,ENST00000575769,;PKMYT1,downstream_gene_variant,,ENST00000575632,;PKMYT1,downstream_gene_variant,,ENST00000574385,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,upstream_gene_variant,,ENST00000571102,;PKMYT1,upstream_gene_variant,,ENST00000572832,;PKMYT1,downstream_gene_variant,,ENST00000575981,;PKMYT1,downstream_gene_variant,,ENST00000574680,;PKMYT1,downstream_gene_variant,,ENST00000382240,;	652	105	129	SUCCESS
ZNF629	23361	.	GRCh37	16	30794703	30794703	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	12	145	0	ENST00000262525.4:c.946A>T	p.Lys316Ter	p.K316*	ENST00000262525	NM_001080417.1	316	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45463.1	946	MUTECT|MUSE	.	TGGCTTCTCGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF286,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000262525	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000262525	Transcript	.	.	ENSG00000102870	29008	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN629_HUMAN	ZNF629	HGNC	.	.	UPI00001C1FA5	SNV	ZNF629,stop_gained,p.Lys316Ter,ENST00000262525,;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	1154	145	199	SUCCESS
WNK4	65266	.	GRCh37	17	40937151	40937151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	94	0	ENST00000246914.5:c.1207C>A	p.Pro403Thr	p.P403T	ENST00000246914	NM_032387.4	403	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS11439.1	1207	MUTECT|MUSE	.	AGATACCCGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000246914	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000246914	Transcript	.	.	ENSG00000126562	14544	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	WNK4_HUMAN	WNK4	HGNC	B0LPI0_HUMAN	.	UPI000006FC0F	SNV	WNK4,missense_variant,p.Pro403Thr,ENST00000246914,;WNK4,upstream_gene_variant,,ENST00000587705,;WNK4,intron_variant,,ENST00000591448,;WNK4,upstream_gene_variant,,ENST00000592072,;WNK4,downstream_gene_variant,,ENST00000592669,;	1228	94	122	SUCCESS
SYDE1	85360	.	GRCh37	19	15220108	15220108	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	8	160	0	ENST00000342784.2:c.330C>A	p.Ile110=	p.I110=	ENST00000342784	NM_033025.4	110	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12324.1	330	MUTECT|MUSE	.	GAGATCTGGTA	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,synonymous_variant,p.%3D,ENST00000600440,;SYDE1,synonymous_variant,p.%3D,ENST00000342784,;SYDE1,synonymous_variant,p.%3D,ENST00000597977,;SYDE1,5_prime_UTR_variant,,ENST00000600252,;SYDE1,upstream_gene_variant,,ENST00000602203,;	361	160	210	SUCCESS
YIF1B	90522	.	GRCh37	19	38796124	38796124	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs979109170	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	20	197	0	ENST00000339413.6:c.813C>G	p.Ile271Met	p.I271M	ENST00000339413	NM_001039673.2	271	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS33010.1	813	MUTECT|MUSE|VARSCANS	.	GCCAAGATCTT	NONE	.	.	hmmpanther:PTHR14083,hmmpanther:PTHR14083:SF1,Pfam_domain:PF03878	.	.	ENSP00000343435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000339413	Transcript	.	.	ENSG00000167645	30511	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.411)	.	deleterious(0)	.	YIF1B_HUMAN	YIF1B	HGNC	K7EJQ6_HUMAN	.	UPI00005AB2F2	SNV	YIF1B,missense_variant,p.Ile205Met,ENST00000592246,;YIF1B,missense_variant,p.Ile240Met,ENST00000592694,;YIF1B,missense_variant,p.Ile256Met,ENST00000329420,;YIF1B,missense_variant,p.Ile271Met,ENST00000339413,;YIF1B,missense_variant,p.Ile240Met,ENST00000591784,;YIF1B,missense_variant,p.Ile240Met,ENST00000392124,;YIF1B,3_prime_UTR_variant,,ENST00000337679,;C19orf33,downstream_gene_variant,,ENST00000588605,;C19orf33,downstream_gene_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589151,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;C19orf33,downstream_gene_variant,,ENST00000591852,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;C19orf33,downstream_gene_variant,,ENST00000589986,;	859	197	231	SUCCESS
ATP1A3	478	.	GRCh37	19	42486221	42486221	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	251	17	192	0	ENST00000302102.5:c.1031A>T	p.Lys344Met	p.K344M	ENST00000302102	NM_152296.4	344	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS58664.1	1070	MUTECT|MUSE	.	AGTTCTTCCGG	NONE	.	.	Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093:SF259,hmmpanther:PTHR24093	.	.	ENSP00000444688	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,missense_variant,p.Lys314Met,ENST00000602133,;ATP1A3,missense_variant,p.Lys357Met,ENST00000545399,;ATP1A3,missense_variant,p.Lys355Met,ENST00000543770,;ATP1A3,missense_variant,p.Lys344Met,ENST00000302102,;ATP1A3,downstream_gene_variant,,ENST00000473086,;ATP1A3,missense_variant,p.Lys344Met,ENST00000441343,;ATP1A3,downstream_gene_variant,,ENST00000485672,;	1224	192	268	SUCCESS
LYPD3	27076	.	GRCh37	19	43968547	43968547	+	synonymous_variant	Silent	SNP	G	G	A	rs368122649	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	82	0	ENST00000244333.3:c.141C>T	p.Asn47=	p.N47=	ENST00000244333	NM_014400.2	47	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS12620.1	141	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGTTCGG	NONE	byCluster	.	hmmpanther:PTHR10624:SF6,hmmpanther:PTHR10624,Pfam_domain:PF00021,SMART_domains:SM00134,Superfamily_domains:SSF57302	.	A:0.0001	ENSP00000244333	.	2/5	.	.	.	.	.	.	.	.	rs368122649	2/5	PASS	ENST00000244333	Transcript	.	.	ENSG00000124466	24880	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYPD3_HUMAN	LYPD3	HGNC	B2RBR3_HUMAN	.	UPI000000D965	SNV	LYPD3,synonymous_variant,p.%3D,ENST00000244333,;LYPD3,non_coding_transcript_exon_variant,,ENST00000597741,;LYPD3,non_coding_transcript_exon_variant,,ENST00000595970,;LYPD3,upstream_gene_variant,,ENST00000594326,;	230	82	97	SUCCESS
CEACAM16	388551	.	GRCh37	19	45208989	45208989	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	8	220	0	ENST00000405314.2:c.791G>A	p.Trp264Ter	p.W264*	ENST00000405314		264	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS54278.1	791	MUTECT|MUSE	.	TGTGTGGACCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF127,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000466561	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000587331	Transcript	1	.	ENSG00000213892	31948	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CEA16_HUMAN	CEACAM16	HGNC	.	.	UPI00001D8176	SNV	CEACAM16,stop_gained,p.Trp264Ter,ENST00000587331,;CEACAM16,stop_gained,p.Trp264Ter,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	1006	220	283	SUCCESS
SYT3	84258	.	GRCh37	19	51129160	51129160	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1411577834	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	9	108	0	ENST00000338916.4:c.1396T>C	p.Phe466Leu	p.F466L	ENST00000338916	NM_032298.2	466	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS12798.1	1396	MUTECT|MUSE	.	TGAGAAGCCAG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000340914	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000338916	Transcript	.	.	ENSG00000213023	11511	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.64)	.	SYT3_HUMAN	SYT3	HGNC	M0QY70_HUMAN	.	UPI0000047AEB	SNV	SYT3,missense_variant,p.Phe466Leu,ENST00000593901,;SYT3,missense_variant,p.Phe466Leu,ENST00000600079,;SYT3,missense_variant,p.Phe466Leu,ENST00000544769,;SYT3,missense_variant,p.Phe466Leu,ENST00000338916,;SYT3,non_coding_transcript_exon_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	2030	108	128	SUCCESS
NLRP8	126205	.	GRCh37	19	56499259	56499259	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	86	0	ENST00000291971.3:c.3127C>G	p.Leu1043Val	p.L1043V	ENST00000291971	NM_176811.2	1043	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12937.1	3127	MUTECT|MUSE	.	ACTGCCTATCC	NONE	.	.	.	.	.	ENSP00000291971	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000291971	Transcript	.	.	ENSG00000179709	22940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.364)	.	deleterious_low_confidence(0)	.	NALP8_HUMAN	NLRP8	HGNC	.	.	UPI00001BB3C9	SNV	NLRP8,missense_variant,p.Leu1024Val,ENST00000590542,;NLRP8,missense_variant,p.Leu1043Val,ENST00000291971,;	3198	86	110	SUCCESS
A1BG	1	.	GRCh37	19	58863684	58863684	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	64	0	ENST00000263100.3:c.578C>T	p.Ser193Phe	p.S193F	ENST00000263100	NM_130786.3	193	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS12976.1	578	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGAGAGG	BUFFER|p.A191T|c.571G>A|3,BUFFER|p.G190G|c.570C>T|3	.	.	hmmpanther:PTHR11738:SF3,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000263100	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000263100	Transcript	.	.	ENSG00000121410	5	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	SNV	A1BG,missense_variant,p.Ser147Phe,ENST00000600966,;A1BG,missense_variant,p.Ser193Phe,ENST00000263100,;ZNF497,downstream_gene_variant,,ENST00000425453,;ZNF497,downstream_gene_variant,,ENST00000311044,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000595302,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	640	64	86	SUCCESS
PGD	5226	.	GRCh37	1	10468143	10468143	+	synonymous_variant	Silent	SNP	C	C	T	rs762072878	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	9	93	0	ENST00000270776.8:c.465C>T	p.Thr155=	p.T155=	ENST00000270776	NM_002631.2	155	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS113.1	465	MUTECT|MUSE	.	AAGACCATCTT	NONE	.	.	hmmpanther:PTHR11811,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR00873,Pfam_domain:PF03446,PIRSF_domain:PIRSF000109,Superfamily_domains:SSF51735	.	.	ENSP00000270776	.	6/13	.	.	.	.	.	.	.	.	rs762072878	6/13	PASS	ENST00000270776	Transcript	.	.	ENSG00000142657	8891	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	6PGD_HUMAN	PGD	HGNC	K7EMN2_HUMAN,K7EM49_HUMAN,B4DV68_HUMAN,B4DQJ8_HUMAN	.	UPI0000169DB9	SNV	PGD,synonymous_variant,p.%3D,ENST00000270776,;PGD,synonymous_variant,p.%3D,ENST00000538557,;PGD,synonymous_variant,p.%3D,ENST00000541529,;PGD,synonymous_variant,p.%3D,ENST00000491493,;PGD,synonymous_variant,p.%3D,ENST00000465632,;PGD,synonymous_variant,p.%3D,ENST00000460189,;PGD,intron_variant,,ENST00000483936,;PGD,upstream_gene_variant,,ENST00000493288,;PGD,downstream_gene_variant,,ENST00000477958,;	503	93	129	SUCCESS
TAS1R3	83756	.	GRCh37	1	1269237	1269237	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	46	0	ENST00000339381.5:c.1952T>A	p.Leu651His	p.L651H	ENST00000339381	NM_152228.1	651	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS30556.1	1952	MUTECT|MUSE	.	CACACTCTTCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF2,Pfam_domain:PF00003	.	.	ENSP00000344411	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000339381	Transcript	.	.	ENSG00000169962	15661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	TS1R3_HUMAN	TAS1R3	HGNC	.	.	UPI0000051F47	SNV	TAS1R3,missense_variant,p.Leu651His,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000378891,;GLTPD1,downstream_gene_variant,,ENST00000343938,;DVL1,downstream_gene_variant,,ENST00000378888,;	1984	46	69	SUCCESS
SLAMF1	6504	.	GRCh37	1	160589594	160589594	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	88	0	ENST00000302035.6:c.836C>T	p.Thr279Met	p.T279M	ENST00000302035	NM_003037.2	279	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS1207.1	836	MUTECT|MUSE	.	AGATCGTAAGG	BUFFER|p.S277fs*54|c.829delA|13	.	.	hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49	.	.	ENSP00000306190	.	5/7	.	.	.	.	.	.	.	.	COSM898333	5/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,missense_variant,p.Thr249Met,ENST00000235739,;SLAMF1,missense_variant,p.Thr279Met,ENST00000355199,;SLAMF1,missense_variant,p.Thr279Met,ENST00000302035,;SLAMF1,intron_variant,,ENST00000538290,;	1186	88	93	SUCCESS
BRINP3	339479	.	GRCh37	1	190068069	190068069	+	synonymous_variant	Silent	SNP	G	G	A	rs1348043617	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	8	108	1	ENST00000367462.3:c.1380C>T	p.Cys460=	p.C460=	ENST00000367462	NM_199051.1	460	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS1373.1	1380	MUTECT|MUSE	.	GTGCCGCAGCG	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Superfamily_domains:SSF57184	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	COSM2123628	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,synonymous_variant,p.%3D,ENST00000534846,;BRINP3,synonymous_variant,p.%3D,ENST00000367462,;	1612	109	130	SUCCESS
UBR4	23352	.	GRCh37	1	19499468	19499468	+	synonymous_variant	Silent	SNP	C	C	T	rs866029301	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	126	0	ENST00000375254.3:c.3411G>A	p.Glu1137=	p.E1137=	ENST00000375254	NM_020765.2	1137	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS189.1	3411	MUTECT|MUSE|VARSCANS	.	AAATGCTCATC	NONE	.	.	hmmpanther:PTHR21725	.	.	ENSP00000364403	.	25/106	.	.	.	.	.	.	.	.	.	25/106	PASS	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000417040,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	3439	126	140	SUCCESS
ZC3H11A	9877	.	GRCh37	1	203797536	203797536	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	9	164	0	ENST00000332127.4:c.284T>C	p.Leu95Pro	p.L95P	ENST00000332127		95	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS30978.1	284	MUTECT|MUSE	.	TTTCCTACCTC	NONE	.	.	hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2	.	.	ENSP00000438527	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000545588	Transcript	.	.	ENSG00000058673	29093	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.162)	.	deleterious(0.02)	.	ZC11A_HUMAN	ZC3H11A	HGNC	E9PBY7_HUMAN,C9J0L0_HUMAN,B4DLG2_HUMAN	.	UPI000006F3FD	SNV	ZC3H11A,missense_variant,p.Leu95Pro,ENST00000367212,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000453771,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000367210,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000367214,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000545588,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000332127,;ZC3H11A,upstream_gene_variant,,ENST00000480354,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000495527,;	4111	164	194	SUCCESS
SRGAP2	23380	.	GRCh37	1	206634640	206634640	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	32	280	1	ENST00000295713.5:c.2833G>T	p.Ala945Ser	p.A945S	ENST00000295713		945	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	2833	MUTECT|MUSE|VARSCANS	.	AGATGGCTGCC	NONE	.	.	hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166	.	.	ENSP00000295713	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000295713	Transcript	.	.	ENSG00000163486	19751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.036)	.	tolerated_low_confidence(0.11)	.	.	SRGAP2	HGNC	Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN	.	UPI000059D0A5	SNV	SRGAP2,missense_variant,p.Ala891Ser,ENST00000414007,;SRGAP2,missense_variant,p.Ala945Ser,ENST00000295713,;SRGAP2,downstream_gene_variant,,ENST00000419187,;SRGAP2,downstream_gene_variant,,ENST00000426388,;	2831	281	356	SUCCESS
LDLRAD2	401944	.	GRCh37	1	22148238	22148238	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	17	0	ENST00000344642.2:c.805+134C>T		p.*269*	ENST00000344642	NM_001013693.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30624.1	.	MUTECT|MUSE	.	GGTGGCGCTGG	NONE	.	.	.	.	.	ENSP00000340988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344642	Transcript	.	.	ENSG00000187942	32071	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRAD2_HUMAN	LDLRAD2	HGNC	.	.	UPI0000470177	SNV	LDLRAD2,intron_variant,,ENST00000344642,;LDLRAD2,intron_variant,,ENST00000543870,;HSPG2,downstream_gene_variant,,ENST00000374695,;LDLRAD2,non_coding_transcript_exon_variant,,ENST00000484271,;HSPG2,downstream_gene_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000481644,;	.	17	23	SUCCESS
CNST	163882	.	GRCh37	1	246811218	246811218	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767432925	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	8	106	0	ENST00000366513.4:c.1715A>G	p.Asp572Gly	p.D572G	ENST00000366513	NM_152609.2	572	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1628.1	1715	MUTECT|MUSE	.	CGACGACTCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000355470	.	9/11	.	.	.	.	.	.	.	.	rs767432925	9/11	PASS	ENST00000366513	Transcript	.	.	ENSG00000162852	26486	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.333)	.	tolerated(0.05)	.	CNST_HUMAN	CNST	HGNC	.	.	UPI000013E1DF	SNV	CNST,missense_variant,p.Asp572Gly,ENST00000366513,;CNST,missense_variant,p.Asp572Gly,ENST00000366512,;CNST,non_coding_transcript_exon_variant,,ENST00000483271,;	1984	106	140	SUCCESS
FGR	2268	.	GRCh37	1	27949607	27949607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	15	197	0	ENST00000374003.3:c.275C>A	p.Thr92Asn	p.T92N	ENST00000374003	NM_001042729.1	92	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS305.1	275	MUTECT|MUSE	.	CCTCAGTTCGA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF224,hmmpanther:PTHR24418,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000363117	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,missense_variant,p.Thr92Asn,ENST00000374004,;FGR,missense_variant,p.Thr92Asn,ENST00000374003,;FGR,missense_variant,p.Thr92Asn,ENST00000457296,;FGR,missense_variant,p.Thr92Asn,ENST00000545953,;FGR,missense_variant,p.Thr92Asn,ENST00000399173,;FGR,missense_variant,p.Thr92Asn,ENST00000374005,;FGR,downstream_gene_variant,,ENST00000468038,;FGR,downstream_gene_variant,,ENST00000475472,;	564	197	282	SUCCESS
ZYG11B	79699	.	GRCh37	1	53279323	53279323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	76	0	ENST00000294353.6:c.1811G>A	p.Gly604Glu	p.G604E	ENST00000294353	NM_024646.2	604	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS30717.1	1811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAATTA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF21	.	.	ENSP00000294353	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000294353	Transcript	.	.	ENSG00000162378	25820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0)	.	ZY11B_HUMAN	ZYG11B	HGNC	.	.	UPI00001C1D70	SNV	ZYG11B,missense_variant,p.Gly604Glu,ENST00000294353,;ZYG11B,missense_variant,p.Gly534Glu,ENST00000443756,;ZYG11B,3_prime_UTR_variant,,ENST00000545132,;	1956	76	90	SUCCESS
GNAS-AS1	149775	.	GRCh37	20	57415270	57415270	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	49	0	ENST00000424094.2:n.819+1722A>G		p.*273*	ENST00000424094				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|MUSE	.	TCTCCTGCTCC	NONE	.	3686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000601795	Transcript	.	.	ENSG00000268333	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP4-806M20.3	Clone_based_vega_gene	.	.	.	SNV	GNAS,missense_variant,p.Cys37Arg,ENST00000313949,;GNAS,missense_variant,p.Cys37Arg,ENST00000371098,;GNAS,missense_variant,p.Cys37Arg,ENST00000371075,;GNAS,upstream_gene_variant,,ENST00000419558,;GNAS,upstream_gene_variant,,ENST00000453292,;RP4-806M20.3,upstream_gene_variant,,ENST00000601795,;GNAS-AS1,non_coding_transcript_exon_variant,,ENST00000443966,;GNAS-AS1,intron_variant,,ENST00000598163,;GNAS-AS1,intron_variant,,ENST00000424094,;GNAS,upstream_gene_variant,,ENST00000482112,;GNAS,upstream_gene_variant,,ENST00000493744,;GNAS,upstream_gene_variant,,ENST00000490374,;GNAS,upstream_gene_variant,,ENST00000462499,;GNAS,upstream_gene_variant,,ENST00000491348,;GNAS,upstream_gene_variant,,ENST00000472183,;GNAS,upstream_gene_variant,,ENST00000467227,;	.	49	66	SUCCESS
NDUFV3	4731	.	GRCh37	21	44324091	44324091	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	68	0	ENST00000340344.4:c.170-4883A>G		p.*57*	ENST00000340344	NM_001001503.1	323		0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS33572.1	969	MUTECT|MUSE	.	CTGCAAGCCAG	NONE	.	.	hmmpanther:PTHR17117,hmmpanther:PTHR17117:SF1	.	.	ENSP00000346196	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000354250	Transcript	.	.	ENSG00000160194	7719	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUV3_HUMAN	NDUFV3	HGNC	.	.	UPI000037848B	SNV	NDUFV3,synonymous_variant,p.%3D,ENST00000354250,;NDUFV3,intron_variant,,ENST00000340344,;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460259,;NDUFV3,downstream_gene_variant,,ENST00000460740,;	1038	68	98	SUCCESS
ENTHD1	150350	.	GRCh37	22	40216999	40216999	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	44	0	ENST00000325157.6:c.831A>G		p.X277_splice	ENST00000325157	NM_152512.3	277	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13998.1	831	MUTECT|MUSE|VARSCANS	.	TTACCTGCACC	NONE	.	.	hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51	.	.	ENSP00000317431	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000325157	Transcript	.	.	ENSG00000176177	26352	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENTD1_HUMAN	ENTHD1	HGNC	.	.	UPI00000741D2	SNV	ENTHD1,synonymous_variant,p.%3D,ENST00000325157,;	1082	44	70	SUCCESS
PXDN	7837	.	GRCh37	2	1652500	1652500	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	6	142	0	ENST00000252804.4:c.3052A>G	p.Thr1018Ala	p.T1018A	ENST00000252804	NM_012293.1	1018	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS46221.1	3052	MUTECT|MUSE	.	CCTGGTCTCAT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000252804	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(1)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Thr1018Ala,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;	3103	142	204	SUCCESS
WDR35	57539	.	GRCh37	2	20138103	20138103	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	75	1	ENST00000345530.3:c.2019T>C	p.Asp673=	p.D673=	ENST00000345530	NM_001006657.1	673	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS33152.1	2019	MUTECT|MUSE	.	CGGCTATCTCG	NONE	.	.	hmmpanther:PTHR16517:SF1,hmmpanther:PTHR16517,PIRSF_domain:PIRSF037536	.	.	ENSP00000314444	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000345530	Transcript	.	.	ENSG00000118965	29250	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR35_HUMAN	WDR35	HGNC	.	.	UPI000034E5D3	SNV	WDR35,synonymous_variant,p.%3D,ENST00000416055,;WDR35,synonymous_variant,p.%3D,ENST00000345530,;WDR35,synonymous_variant,p.%3D,ENST00000281405,;WDR35,synonymous_variant,p.%3D,ENST00000453014,;WDR35,synonymous_variant,p.%3D,ENST00000414212,;WDR35,3_prime_UTR_variant,,ENST00000445063,;	2135	76	45	SUCCESS
ACSL3	2181	.	GRCh37	2	223791787	223791787	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	56	0	ENST00000357430.3:c.1345T>G	p.Leu449Val	p.L449V	ENST00000357430	NM_004457.3	449	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2455.1	1345	MUTECT|MUSE	.	TCCTGTTGTGT	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF157,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000350012	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000357430	Transcript	.	.	ENSG00000123983	3570	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	ACSL3_HUMAN	ACSL3	HGNC	Q6PIM8_HUMAN,F5H062_HUMAN,F5GWH2_HUMAN,C9JC11_HUMAN,B3KMA6_HUMAN	.	UPI0000074742	SNV	ACSL3,missense_variant,p.Leu449Val,ENST00000392066,;ACSL3,missense_variant,p.Leu449Val,ENST00000357430,;ACSL3,intron_variant,,ENST00000407441,;ACSL3,downstream_gene_variant,,ENST00000421680,;ACSL3,upstream_gene_variant,,ENST00000474422,;	1876	56	105	SUCCESS
STARD7	56910	.	GRCh37	2	96861116	96861116	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	11	72	0	ENST00000337288.5:c.462G>A	p.Arg154=	p.R154=	ENST00000337288	NM_020151.3	154	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2017.2	462	MUTECT|MUSE|VARSCANS	.	GGGCGCCGCCA	NONE	.	.	Superfamily_domains:SSF55961,SMART_domains:SM00234,Gene3D:3.30.530.20,Pfam_domain:PF01852,hmmpanther:PTHR19308:SF4,hmmpanther:PTHR19308,PROSITE_profiles:PS50848	.	.	ENSP00000338030	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000337288	Transcript	.	.	ENSG00000084090	18063	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAR7_HUMAN	STARD7	HGNC	C9JTD3_HUMAN	.	UPI0000001C0C	SNV	STARD7,synonymous_variant,p.%3D,ENST00000337288,;STARD7,synonymous_variant,p.%3D,ENST00000443962,;STARD7,non_coding_transcript_exon_variant,,ENST00000462501,;STARD7,non_coding_transcript_exon_variant,,ENST00000488084,;STARD7,upstream_gene_variant,,ENST00000495687,;	846	72	132	SUCCESS
WDR49	151790	.	GRCh37	3	167240162	167240162	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	51	0	ENST00000308378.3:c.1659T>C	p.Cys553=	p.C553=	ENST00000308378	NM_178824.3	553	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS3201.1	1659	MUTECT|MUSE	.	TCTAAACAAGA	NONE	.	.	hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844	.	.	ENSP00000311343	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,synonymous_variant,p.%3D,ENST00000472600,;WDR49,synonymous_variant,p.%3D,ENST00000453925,;WDR49,synonymous_variant,p.%3D,ENST00000476376,;WDR49,synonymous_variant,p.%3D,ENST00000493061,;WDR49,synonymous_variant,p.%3D,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;	1965	51	39	SUCCESS
AP2M1	1173	.	GRCh37	3	183898651	183898651	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375328073	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	16	177	0	ENST00000292807.5:c.444G>T	p.Gln148His	p.Q148H	ENST00000292807	NM_004068.3	148	caG/caT	0	A:0	.	.	.	.	T	Q/H	protein_coding	YES	CCDS43177.1	444	MUTECT|MUSE	.	GAGCAGTCACA	NONE	byCluster	.	hmmpanther:PTHR11998,PIRSF_domain:PIRSF005992	.	A:0.0001	ENSP00000292807	.	6/12	.	.	.	.	.	.	.	.	rs375328073	6/12	PASS	ENST00000292807	Transcript	.	.	ENSG00000161203	564	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.457)	.	deleterious(0.02)	.	AP2M1_HUMAN	AP2M1	HGNC	C9JJD3_HUMAN	.	UPI0000000DD8	SNV	AP2M1,missense_variant,p.Gln173His,ENST00000411763,;AP2M1,missense_variant,p.Val179Phe,ENST00000431779,;AP2M1,missense_variant,p.Gln148His,ENST00000292807,;AP2M1,missense_variant,p.Gln146His,ENST00000382456,;AP2M1,missense_variant,p.Gln150His,ENST00000448139,;AP2M1,missense_variant,p.Gln148His,ENST00000432591,;AP2M1,missense_variant,p.Gln146His,ENST00000439647,;EIF2B5,intron_variant,,ENST00000444495,;AP2M1,downstream_gene_variant,,ENST00000455925,;AP2M1,upstream_gene_variant,,ENST00000442686,;AP2M1,downstream_gene_variant,,ENST00000427072,;AP2M1,non_coding_transcript_exon_variant,,ENST00000461733,;AP2M1,downstream_gene_variant,,ENST00000460862,;AP2M1,non_coding_transcript_exon_variant,,ENST00000490151,;AP2M1,non_coding_transcript_exon_variant,,ENST00000468048,;AP2M1,non_coding_transcript_exon_variant,,ENST00000472560,;AP2M1,downstream_gene_variant,,ENST00000484469,;AP2M1,downstream_gene_variant,,ENST00000487958,;AP2M1,upstream_gene_variant,,ENST00000476434,;AP2M1,downstream_gene_variant,,ENST00000466598,;AP2M1,upstream_gene_variant,,ENST00000463935,;AP2M1,upstream_gene_variant,,ENST00000480260,;	592	177	208	SUCCESS
CTDSPL	10217	.	GRCh37	3	37988645	37988645	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	45	0	ENST00000273179.5:c.177A>C	p.Pro59=	p.P59=	ENST00000273179	NM_001008392.1	59	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS33734.1	177	MUTECT|MUSE	.	CCTCCACCCAG	NONE	.	.	hmmpanther:PTHR12210:SF43,hmmpanther:PTHR12210,Low_complexity_(Seg):seg	.	.	ENSP00000273179	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000273179	Transcript	.	.	ENSG00000144677	16890	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTDSL_HUMAN	CTDSPL	HGNC	.	.	UPI00001BE8E2	SNV	CTDSPL,synonymous_variant,p.%3D,ENST00000443503,;CTDSPL,synonymous_variant,p.%3D,ENST00000273179,;CTDSPL,non_coding_transcript_exon_variant,,ENST00000486978,;CTDSPL,3_prime_UTR_variant,,ENST00000435525,;	203	45	62	SUCCESS
SCN10A	6336	.	GRCh37	3	38797277	38797277	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	5	107	0	ENST00000449082.2:c.1461+2T>C		p.X487_splice	ENST00000449082	NM_006514.2	487		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33736.1	.	MUTECT|MUSE	.	CTCTTACCATC	NONE	.	.	.	.	.	ENSP00000390600	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	HIGH	10/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,splice_donor_variant,,ENST00000449082,;	.	107	155	SUCCESS
CSRNP1	64651	.	GRCh37	3	39184867	39184867	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	7	101	0	ENST00000273153.5:c.1449G>C	p.Val483=	p.V483=	ENST00000273153	NM_033027.3	483	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS2682.1	1449	MUTECT|MUSE	.	GGTGGCACTGA	NONE	.	.	hmmpanther:PTHR13580:SF10,hmmpanther:PTHR13580	.	.	ENSP00000273153	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000273153	Transcript	.	.	ENSG00000144655	14300	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSRN1_HUMAN	CSRNP1	HGNC	.	.	UPI0000044242	SNV	CSRNP1,synonymous_variant,p.%3D,ENST00000514182,;CSRNP1,synonymous_variant,p.%3D,ENST00000273153,;TTC21A,downstream_gene_variant,,ENST00000440121,;TTC21A,downstream_gene_variant,,ENST00000301819,;TTC21A,downstream_gene_variant,,ENST00000431162,;TTC21A,downstream_gene_variant,,ENST00000493856,;TTC21A,downstream_gene_variant,,ENST00000472866,;TTC21A,downstream_gene_variant,,ENST00000460460,;TTC21A,downstream_gene_variant,,ENST00000430597,;	1627	101	121	SUCCESS
SEC22C	9117	.	GRCh37	3	42610528	42610528	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	18	226	0	ENST00000264454.3:c.11T>G	p.Ile4Ser	p.I4S	ENST00000264454		4	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS2700.1	11	MUTECT|MUSE	.	AAAAGATCACG	NONE	.	.	hmmpanther:PTHR21136:SF2,hmmpanther:PTHR21136,Gene3D:3.30.450.50,Superfamily_domains:SSF64356	.	.	ENSP00000264454	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000264454	Transcript	.	.	ENSG00000093183	16828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SC22C_HUMAN	SEC22C	HGNC	C9J9A4_HUMAN,C9J448_HUMAN,C9J2R1_HUMAN	.	UPI000006D0A7	SNV	SEC22C,missense_variant,p.Ile4Ser,ENST00000420163,;SEC22C,missense_variant,p.Ile4Ser,ENST00000273156,;SEC22C,missense_variant,p.Ile4Ser,ENST00000264454,;SEC22C,missense_variant,p.Ile4Ser,ENST00000450981,;SEC22C,missense_variant,p.Ile4Ser,ENST00000456515,;SEC22C,missense_variant,p.Ile4Ser,ENST00000416880,;SEC22C,missense_variant,p.Ile4Ser,ENST00000417572,;SEC22C,missense_variant,p.Ile4Ser,ENST00000423701,;SEC22C,5_prime_UTR_variant,,ENST00000536332,;SEC22C,non_coding_transcript_exon_variant,,ENST00000493107,;SEC22C,non_coding_transcript_exon_variant,,ENST00000456222,;SEC22C,missense_variant,p.Ile4Ser,ENST00000449617,;SEC22C,missense_variant,p.Ile4Ser,ENST00000454141,;SEC22C,missense_variant,p.Ile4Ser,ENST00000445388,;SEC22C,missense_variant,p.Ile4Ser,ENST00000383750,;SEC22C,upstream_gene_variant,,ENST00000487701,;	155	226	269	SUCCESS
HYAL1	3373	.	GRCh37	3	50340541	50340541	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	29	0	ENST00000266031.4:c.-154C>T		p.*52*	ENST00000266031				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2816.1	.	MUTECT|MUSE	.	CTGCAGGGCTC	NONE	.	.	.	.	.	ENSP00000266031	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000266031	Transcript	.	.	ENSG00000114378	5320	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYAL1_HUMAN	HYAL1	HGNC	C9JRK1_HUMAN,C9JB49_HUMAN	.	UPI000003FD9D	SNV	HYAL1,splice_region_variant,,ENST00000418723,;HYAL1,5_prime_UTR_variant,,ENST00000266031,;HYAL1,intron_variant,,ENST00000452672,;HYAL1,intron_variant,,ENST00000395143,;HYAL1,intron_variant,,ENST00000447605,;HYAL1,intron_variant,,ENST00000457214,;HYAL1,intron_variant,,ENST00000320295,;HYAL1,intron_variant,,ENST00000395144,;NAT6,upstream_gene_variant,,ENST00000417393,;HYAL3,upstream_gene_variant,,ENST00000450982,;NAT6,upstream_gene_variant,,ENST00000443842,;HYAL3,upstream_gene_variant,,ENST00000336307,;NAT6,upstream_gene_variant,,ENST00000443094,;NAT6,upstream_gene_variant,,ENST00000442620,;HYAL3,upstream_gene_variant,,ENST00000359051,;NAT6,upstream_gene_variant,,ENST00000354862,;HYAL3,upstream_gene_variant,,ENST00000415204,;NAT6,upstream_gene_variant,,ENST00000450489,;HYAL3,upstream_gene_variant,,ENST00000513170,;NAT6,upstream_gene_variant,,ENST00000452674,;	463	29	23	SUCCESS
CASP6	839	.	GRCh37	4	110615726	110615726	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	13	198	0	ENST00000265164.2:c.438C>G	p.Asp146Glu	p.D146E	ENST00000265164	NM_001226.3	146	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS3684.1	438	MUTECT|MUSE	.	CACTTGTCTCC	NONE	.	.	Superfamily_domains:SSF52129,SMART_domains:SM00115,Gene3D:3.40.50.1460,Pfam_domain:PF00656,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF144,PROSITE_profiles:PS50208	.	.	ENSP00000265164	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000265164	Transcript	.	.	ENSG00000138794	1507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.514)	.	deleterious(0.03)	.	CASP6_HUMAN	CASP6	HGNC	D6RHU3_HUMAN	.	UPI00000622E4	SNV	CASP6,missense_variant,p.Asp146Glu,ENST00000265164,;CASP6,missense_variant,p.Asp57Glu,ENST00000352981,;CASP6,missense_variant,p.Asp128Glu,ENST00000503684,;CASP6,downstream_gene_variant,,ENST00000505486,;AC004067.5,downstream_gene_variant,,ENST00000608733,;CASP6,non_coding_transcript_exon_variant,,ENST00000510324,;CASP6,non_coding_transcript_exon_variant,,ENST00000508203,;CASP6,non_coding_transcript_exon_variant,,ENST00000507550,;CASP6,non_coding_transcript_exon_variant,,ENST00000505117,;	516	198	245	SUCCESS
KIAA1239	0	.	GRCh37	4	37447618	37447618	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	68	0	ENST00000309447.5:c.4008A>T	p.Gly1336=	p.G1336=	ENST00000309447	NM_001144990.1	1336	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS47040.1	4008	MUTECT|MUSE	.	GATGGATCCGA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,Superfamily_domains:SSF82171	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,synonymous_variant,p.%3D,ENST00000309447,;	4856	68	107	SUCCESS
KLB	152831	.	GRCh37	4	39448160	39448160	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1236022642	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	8	85	0	ENST00000257408.4:c.1814C>T	p.Ser605Leu	p.S605L	ENST00000257408	NM_175737.3	605	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3451.1	1814	MUTECT|MUSE	.	GGCCTCGGTCC	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.72)	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,missense_variant,p.Ser605Leu,ENST00000257408,;Y_RNA,downstream_gene_variant,,ENST00000459360,;	1911	85	124	SUCCESS
SH3TC2	79628	.	GRCh37	5	148407630	148407630	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	14	171	0	ENST00000515425.1:c.1665C>A	p.Ile555=	p.I555=	ENST00000515425	NM_024577.3	555	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4293.1	1665	MUTECT|MUSE	.	ATGTGGATGGC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,synonymous_variant,p.%3D,ENST00000515425,;SH3TC2,synonymous_variant,p.%3D,ENST00000538184,;SH3TC2,synonymous_variant,p.%3D,ENST00000512049,;SH3TC2,synonymous_variant,p.%3D,ENST00000394358,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,synonymous_variant,p.%3D,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	1767	171	234	SUCCESS
CNOT6	57472	.	GRCh37	5	179956354	179956354	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	21	218	0	ENST00000261951.4:c.78A>G	p.Gly26=	p.G26=	ENST00000261951	NM_015455.3	26	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS4455.1	78	MUTECT|MUSE	.	AATGGAAAGAA	NONE	.	.	hmmpanther:PTHR12121:SF33,hmmpanther:PTHR12121	.	.	ENSP00000377024	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000393356	Transcript	.	.	ENSG00000113300	14099	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNOT6_HUMAN	CNOT6	HGNC	.	.	UPI000013D22B	SNV	CNOT6,synonymous_variant,p.%3D,ENST00000393356,;CNOT6,synonymous_variant,p.%3D,ENST00000261951,;CNOT6,synonymous_variant,p.%3D,ENST00000504343,;CNOT6,non_coding_transcript_exon_variant,,ENST00000502447,;CNOT6,intron_variant,,ENST00000507016,;RP11-451H23.1,downstream_gene_variant,,ENST00000502510,;	502	219	271	SUCCESS
FLT4	2324	.	GRCh37	5	180048894	180048894	+	synonymous_variant	Silent	SNP	G	G	A	rs143634822	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	14	123	0	ENST00000261937.6:c.1668C>T	p.Asp556=	p.D556=	ENST00000261937	NM_182925.4	556	gaC/gaT	0	A:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS4457.1	1668	MUTECT|MUSE	.	AAGCCGTCGGG	NONE	byCluster	.	Superfamily_domains:SSF48726,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50835	.	A:0	ENSP00000261937	.	13/30	.	.	.	.	.	.	.	.	rs143634822,COSM400659,COSM400658,COSM400660	13/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	.	.	.	0,1,1,1	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	1747	123	176	SUCCESS
OR2V2	285659	.	GRCh37	5	180582509	180582509	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	18	175	0	ENST00000328275.1:c.567C>T	p.Ala189=	p.A189=	ENST00000328275	NM_206880.1	189	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4461.1	567	MUTECT|MUSE	.	CTGGCCTGTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000332185	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328275	Transcript	.	.	ENSG00000182613	15341	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2V2_HUMAN	OR2V2	HGNC	.	.	UPI0000041C79	SNV	OR2V2,synonymous_variant,p.%3D,ENST00000328275,;	567	175	229	SUCCESS
IQGAP2	10788	.	GRCh37	5	75893275	75893275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	11	155	0	ENST00000274364.6:c.919G>T	p.Val307Leu	p.V307L	ENST00000274364	NM_006633.2	307	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS34188.1	919	MUTECT|MUSE	.	CTGCAGTGGAC	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12	.	.	ENSP00000274364	.	10/36	.	.	.	.	.	.	.	.	.	10/36	PASS	ENST00000274364	Transcript	.	.	ENSG00000145703	6111	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.893)	.	tolerated(0.53)	.	IQGA2_HUMAN	IQGAP2	HGNC	E7EWC2_HUMAN,D6R939_HUMAN	.	UPI000020CB2C	SNV	IQGAP2,missense_variant,p.Val280Leu,ENST00000514350,;IQGAP2,missense_variant,p.Val257Leu,ENST00000505766,;IQGAP2,missense_variant,p.Val307Leu,ENST00000274364,;IQGAP2,5_prime_UTR_variant,,ENST00000379730,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000504815,;	1216	155	169	SUCCESS
MSH3	4437	.	GRCh37	5	80063794	80063794	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	8	90	0	ENST00000265081.6:c.1939C>G	p.His647Asp	p.H647D	ENST00000265081	NM_002439.4	647	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS34195.1	1939	MUTECT|MUSE	.	TATATCACCTA	NONE	.	.	Superfamily_domains:SSF48334,SMART_domains:SM00533,Gene3D:1.10.1420.10,Pfam_domain:PF05192,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF34	.	.	ENSP00000265081	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000265081	Transcript	1	.	ENSG00000113318	7326	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.216)	.	tolerated(0.07)	.	MSH3_HUMAN	MSH3	HGNC	.	.	UPI0000DBEE85	SNV	MSH3,missense_variant,p.His647Asp,ENST00000265081,;	2019	90	111	SUCCESS
CCNH	902	.	GRCh37	5	86705132	86705132	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	36	0	ENST00000256897.4:c.289A>G	p.Met97Val	p.M97V	ENST00000256897	NM_001239.3	97	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS4064.1	289	MUTECT|MUSE	.	TTCCATTACTG	NONE	.	.	hmmpanther:PTHR10026:SF66,hmmpanther:PTHR10026,Pfam_domain:PF00134,Gene3D:1.10.472.10,TIGRFAM_domain:TIGR00569,SMART_domains:SM00385,PIRSF_domain:PIRSF028758,Superfamily_domains:SSF47954	.	.	ENSP00000256897	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000256897	Transcript	.	.	ENSG00000134480	1594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	CCNH_HUMAN	CCNH	HGNC	D6RHI7_HUMAN	.	UPI0000048D5B	SNV	CCNH,missense_variant,p.Met23Val,ENST00000508855,;CCNH,missense_variant,p.Met97Val,ENST00000256897,;CCNH,missense_variant,p.Met23Val,ENST00000504878,;CCNH,non_coding_transcript_exon_variant,,ENST00000510020,;CCNH,non_coding_transcript_exon_variant,,ENST00000513499,;CCNH,upstream_gene_variant,,ENST00000510921,;CCNH,non_coding_transcript_exon_variant,,ENST00000505230,;CCNH,upstream_gene_variant,,ENST00000505587,;CCNH,upstream_gene_variant,,ENST00000504115,;	514	36	56	SUCCESS
EPM2A	7957	.	GRCh37	6	145948714	145948714	+	synonymous_variant	Silent	SNP	G	G	A	rs759427349	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	77	0	ENST00000367519.3:c.834C>T	p.Cys278=	p.C278=	ENST00000367519	NM_005670.3	278	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS5206.1	834	MUTECT|MUSE	.	CAGCCGCAGAC	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF48,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000356489	.	4/4	.	.	.	.	.	.	.	.	rs759427349,HM0660	4/4	PASS	ENST00000367519	Transcript	.	.	ENSG00000112425	3413	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	.	EPM2A_HUMAN	EPM2A	HGNC	H0UI04_HUMAN	.	UPI000006E60E	SNV	EPM2A,synonymous_variant,p.%3D,ENST00000367519,;EPM2A,synonymous_variant,p.%3D,ENST00000435470,;EPM2A,intron_variant,,ENST00000450221,;	1360	77	71	SUCCESS
GPR22	2845	.	GRCh37	7	107115727	107115727	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1289051978	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	76	0	ENST00000304402.4:c.1222C>A	p.Pro408Thr	p.P408T	ENST00000304402	NM_005295.2	408	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS5744.1	1222	MUTECT|MUSE	.	TAGATCCTAAA	NONE	.	.	hmmpanther:PTHR24241:SF1,hmmpanther:PTHR24241	.	.	ENSP00000302676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304402	Transcript	.	.	ENSG00000172209	4477	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.099)	.	tolerated(0.53)	.	GPR22_HUMAN	GPR22	HGNC	Q59G39_HUMAN,A4D0R8_HUMAN	.	UPI000013E975	SNV	GPR22,missense_variant,p.Pro408Thr,ENST00000304402,;COG5,intron_variant,,ENST00000347053,;COG5,intron_variant,,ENST00000393603,;COG5,intron_variant,,ENST00000297135,;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;	2565	76	108	SUCCESS
MACC1	346389	.	GRCh37	7	20201371	20201371	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	32	0	ENST00000332878.4:c.115G>A	p.Glu39Lys	p.E39K	ENST00000332878		39	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5369.1	115	RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTGTAA	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.069)	.	tolerated(0.63)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Glu39Lys,ENST00000589011,;MACC1,missense_variant,p.Glu39Lys,ENST00000400331,;MACC1,missense_variant,p.Glu39Lys,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	424	32	51	SUCCESS
IL6	3569	.	GRCh37	7	22767126	22767126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	6	64	0	ENST00000258743.5:c.83C>T	p.Ala28Val	p.A28V	ENST00000258743	NM_000600.3	28	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5375.1	83	MUTECT|MUSE	.	CCCTGCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001935,hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457	.	.	ENSP00000385675	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000404625	Transcript	.	.	ENSG00000136244	6018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.065)	.	deleterious(0.01)	.	IL6_HUMAN	IL6	HGNC	Q75MH2_HUMAN,H9C875_HUMAN,C9J5B0_HUMAN,B5MC21_HUMAN	.	UPI000002C4A6	SNV	IL6,missense_variant,p.Ala82Val,ENST00000420258,;IL6,missense_variant,p.Ala28Val,ENST00000258743,;IL6,missense_variant,p.Ala28Val,ENST00000426291,;IL6,missense_variant,p.Ala28Val,ENST00000406575,;IL6,missense_variant,p.Ala28Val,ENST00000404625,;IL6,splice_region_variant,,ENST00000401630,;IL6,intron_variant,,ENST00000401651,;IL6,intron_variant,,ENST00000407492,;AC073072.5,intron_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,upstream_gene_variant,,ENST00000464710,;	542	64	94	SUCCESS
EIF3B	8662	.	GRCh37	7	2406209	2406209	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	15	114	0	ENST00000360876.4:c.1339A>C	p.Ser447Arg	p.S447R	ENST00000360876	NM_001037283.1	447	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS5332.1	1339	MUTECT|MUSE|VARSCANS	.	CGCTTAGCATC	NONE	.	.	HAMAP:MF_03001,hmmpanther:PTHR14068,hmmpanther:PTHR14068:SF0,Gene3D:2.130.10.10,PIRSF_domain:PIRSF036424,Superfamily_domains:0047732	.	.	ENSP00000354125	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000360876	Transcript	.	.	ENSG00000106263	3280	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	EIF3B_HUMAN	EIF3B	HGNC	Q86UM1_HUMAN,C9JQN7_HUMAN	.	UPI000013F934	SNV	EIF3B,missense_variant,p.Ser447Arg,ENST00000360876,;EIF3B,missense_variant,p.Ser447Arg,ENST00000397011,;EIF3B,downstream_gene_variant,,ENST00000431643,;EIF3B,downstream_gene_variant,,ENST00000413917,;EIF3B,non_coding_transcript_exon_variant,,ENST00000468250,;EIF3B,non_coding_transcript_exon_variant,,ENST00000463026,;EIF3B,non_coding_transcript_exon_variant,,ENST00000466199,;EIF3B,intron_variant,,ENST00000463229,;	1395	114	153	SUCCESS
CHN2	1124	.	GRCh37	7	29407578	29407578	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	30	0	ENST00000222792.6:c.119C>T	p.Pro40Leu	p.P40L	ENST00000222792	NM_004067.2	40	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5420.1	119	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCCCAAGA	NONE	.	.	Superfamily_domains:SSF55550,PIRSF_domain:PIRSF038015,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7	.	.	ENSP00000222792	.	3/13	.	.	.	.	.	.	.	.	COSM3366904,COSM3366905	3/13	PASS	ENST00000222792	Transcript	.	.	ENSG00000106069	1944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.126)	.	deleterious(0)	1,1	CHIO_HUMAN	CHN2	HGNC	A4D1A2_HUMAN	.	UPI000012781F	SNV	CHN2,missense_variant,p.Pro53Leu,ENST00000409350,;CHN2,missense_variant,p.Pro115Leu,ENST00000439384,;CHN2,missense_variant,p.Pro40Leu,ENST00000435288,;CHN2,missense_variant,p.Pro25Leu,ENST00000546235,;CHN2,missense_variant,p.Pro115Leu,ENST00000539406,;CHN2,missense_variant,p.Pro53Leu,ENST00000495789,;CHN2,missense_variant,p.Pro40Leu,ENST00000222792,;CHN2,missense_variant,p.Pro40Leu,ENST00000539389,;CHN2,non_coding_transcript_exon_variant,,ENST00000409964,;CHN2,non_coding_transcript_exon_variant,,ENST00000482820,;CHN2,non_coding_transcript_exon_variant,,ENST00000478128,;CHN2,non_coding_transcript_exon_variant,,ENST00000409922,;CHN2,non_coding_transcript_exon_variant,,ENST00000412536,;CHN2,non_coding_transcript_exon_variant,,ENST00000483081,;CHN2,missense_variant,p.Pro74Ser,ENST00000474070,;	649	30	55	SUCCESS
IKZF1	10320	.	GRCh37	7	50444279	50444279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	82	0	ENST00000331340.3:c.209C>A	p.Ala70Asp	p.A70D	ENST00000331340	NM_006060.4	70	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS59055.1	209	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCCTGTG	CODON|p.?|c.1-?_850+?del|74,CODON|p.?|c.161-?_1560+?del|29,CODON|p.?|c.161-?_850+?del|163	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23	.	.	ENSP00000413025	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.599)	.	tolerated(0.16)	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.Ala70Asp,ENST00000331340,;IKZF1,missense_variant,p.Ala70Asp,ENST00000349824,;IKZF1,missense_variant,p.Ala70Asp,ENST00000440768,;IKZF1,missense_variant,p.Ala70Asp,ENST00000357364,;IKZF1,missense_variant,p.Ala70Asp,ENST00000359197,;IKZF1,missense_variant,p.Ala70Asp,ENST00000439701,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,intron_variant,,ENST00000343574,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,intron_variant,,ENST00000438033,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;IKZF1,non_coding_transcript_exon_variant,,ENST00000462201,;	408	82	111	SUCCESS
CYP3A5	1577	.	GRCh37	7	99273802	99273802	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	23	152	0	ENST00000222982.4:c.101A>G	p.Lys34Arg	p.K34R	ENST00000222982	NM_000777.3	34	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS5672.1	101	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTTAAAA	NONE	.	.	Superfamily_domains:SSF48264,Gene3D:1.10.630.10,hmmpanther:PTHR24302:SF3,hmmpanther:PTHR24302	.	.	ENSP00000222982	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.061)	.	deleterious(0.02)	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,missense_variant,p.Lys34Arg,ENST00000222982,;CYP3A5,missense_variant,p.Lys34Arg,ENST00000439761,;CYP3A5,missense_variant,p.Lys24Arg,ENST00000343703,;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,3_prime_UTR_variant,,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;	201	152	239	SUCCESS
SCRIB	23513	.	GRCh37	8	144891130	144891130	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	92	0	ENST00000320476.3:c.1764G>T	p.Gln588His	p.Q588H	ENST00000320476	NM_015356.4	588	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS6412.1	1764	MUTECT|MUSE	.	TCAGGCTGCCC	NONE	.	.	.	.	.	ENSP00000349486	.	15/37	.	.	.	.	.	.	.	.	.	15/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.739)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Gln507His,ENST00000377533,;SCRIB,missense_variant,p.Gln588His,ENST00000356994,;SCRIB,missense_variant,p.Gln588His,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000526832,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	1771	92	85	SUCCESS
CSMD1	64478	.	GRCh37	8	3072177	3072177	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	8	107	0	ENST00000537824.1:c.4709T>C	p.Ile1570Thr	p.I1570T	ENST00000537824	NM_033225.5	1570	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS55189.1	4709	MUTECT|MUSE	.	TCATTATATTT	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	30/70	.	.	.	.	.	.	.	.	.	30/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.713)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ile1571Thr,ENST00000400186,;CSMD1,missense_variant,p.Ile1570Thr,ENST00000542608,;CSMD1,missense_variant,p.Ile1571Thr,ENST00000602723,;CSMD1,missense_variant,p.Ile1051Thr,ENST00000335551,;CSMD1,missense_variant,p.Ile1570Thr,ENST00000537824,;CSMD1,missense_variant,p.Ile1571Thr,ENST00000520002,;CSMD1,missense_variant,p.Ile1570Thr,ENST00000539096,;CSMD1,missense_variant,p.Ile1571Thr,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4709	107	128	SUCCESS
UNC5D	137970	.	GRCh37	8	35608295	35608295	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	20	187	0	ENST00000404895.2:c.2131T>C	p.Tyr711His	p.Y711H	ENST00000404895	NM_080872.2	711	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS6093.2	2131	MUTECT|MUSE	.	GAGTTTACTGT	NONE	.	.	hmmpanther:PTHR12582:SF5,hmmpanther:PTHR12582	.	.	ENSP00000385143	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.21)	.	deleterious(0.01)	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,missense_variant,p.Tyr287His,ENST00000449677,;UNC5D,missense_variant,p.Tyr706His,ENST00000453357,;UNC5D,missense_variant,p.Tyr716His,ENST00000416672,;UNC5D,missense_variant,p.Tyr711His,ENST00000404895,;UNC5D,missense_variant,p.Tyr642His,ENST00000287272,;UNC5D,missense_variant,p.Tyr644His,ENST00000420357,;	2459	187	258	SUCCESS
RUNX1T1	862	.	GRCh37	8	93026974	93026974	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	6	61	0	ENST00000265814.3:c.301C>T	p.Pro101Ser	p.P101S	ENST00000265814	NM_001198628.1	101	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS56544.1	334	MUTECT|MUSE	.	GGAAGGCCCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	3/11	.	.	.	.	.	.	.	.	COSM1624293,COSM1624292,COSM1624291	3/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.947)	.	deleterious(0.04)	1,1,1	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Pro101Ser,ENST00000523168,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000517792,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000520583,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000522467,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000422361,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000521319,;RUNX1T1,missense_variant,p.Pro112Ser,ENST00000436581,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000360348,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000521553,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000518823,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000521733,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000518844,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000523629,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000520724,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000517919,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000519847,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000518992,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000265814,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000521054,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000520556,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000396218,;RUNX1T1,downstream_gene_variant,,ENST00000518317,;RUNX1T1,downstream_gene_variant,,ENST00000518832,;RUNX1T1,downstream_gene_variant,,ENST00000518954,;RUNX1T1,downstream_gene_variant,,ENST00000519061,;RUNX1T1,downstream_gene_variant,,ENST00000520974,;RUNX1T1,downstream_gene_variant,,ENST00000520428,;RUNX1T1,downstream_gene_variant,,ENST00000521375,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,downstream_gene_variant,,ENST00000520172,;RUNX1T1,downstream_gene_variant,,ENST00000522860,;RUNX1T1,downstream_gene_variant,,ENST00000522065,;RUNX1T1,downstream_gene_variant,,ENST00000522163,;RUNX1T1,downstream_gene_variant,,ENST00000518256,;RUNX1T1,3_prime_UTR_variant,,ENST00000519577,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000517493,;RUNX1T1,downstream_gene_variant,,ENST00000521897,;RUNX1T1,downstream_gene_variant,,ENST00000519422,;RUNX1T1,downstream_gene_variant,,ENST00000524215,;RUNX1T1,downstream_gene_variant,,ENST00000521902,;	345	61	99	SUCCESS
RNF20	56254	.	GRCh37	9	104303192	104303192	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	5	115	0	ENST00000389120.3:c.563T>C	p.Ile188Thr	p.I188T	ENST00000389120	NM_019592.6	188	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS35084.1	563	MUTECT|MUSE	.	CCAGATTGTGA	NONE	.	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163	.	.	ENSP00000373772	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.01)	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,missense_variant,p.Ile188Thr,ENST00000389120,;RNF20,downstream_gene_variant,,ENST00000479306,;RNF20,downstream_gene_variant,,ENST00000466817,;RNF20,downstream_gene_variant,,ENST00000374819,;RNF20,downstream_gene_variant,,ENST00000481046,;	653	115	118	SUCCESS
FRMPD3	84443	.	GRCh37	X	106845477	106845477	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754702456	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	54	0	ENST00000276185.4:c.4307G>A	p.Gly1436Asp	p.G1436D	ENST00000276185		1436	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	.	4307	MUTECT|MUSE	.	CCAGGGTGACA	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6	.	.	ENSP00000276185	.	16/16	.	.	.	.	.	.	.	.	rs754702456	16/16	PASS	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.09)	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,missense_variant,p.Gly1436Asp,ENST00000276185,;FRMPD3,missense_variant,p.Gly1384Asp,ENST00000439554,;	4307	54	91	SUCCESS
DCAF12L2	340578	.	GRCh37	X	125298989	125298989	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	24	123	1	ENST00000360028.2:c.919C>T	p.Arg307Ter	p.R307*	ENST00000360028		307	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43991.1	919	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGGCAGT	NONE	.	.	hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000441489	.	2/2	.	.	.	.	.	.	.	.	COSM610563,COSM1203049,COSM610562,COSM1203048	2/2	PASS	ENST00000538699	Transcript	.	.	ENSG00000198354	32950	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	.	.	.	1,1,1,1	DC122_HUMAN	DCAF12L2	HGNC	.	.	UPI0000197594	SNV	DCAF12L2,stop_gained,p.Arg307Ter,ENST00000538699,;DCAF12L2,stop_gained,p.Arg307Ter,ENST00000360028,;	1000	124	163	SUCCESS
ATP11C	286410	.	GRCh37	X	138878508	138878508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	25	140	0	ENST00000327569.3:c.1139A>T	p.Asp380Val	p.D380V	ENST00000327569	NM_173694.4	380	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS14668.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATCCCAT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF38,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000332756	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000327569	Transcript	.	.	ENSG00000101974	13554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT11C_HUMAN	ATP11C	HGNC	.	.	UPI000036777E	SNV	ATP11C,missense_variant,p.Asp380Val,ENST00000370543,;ATP11C,missense_variant,p.Asp380Val,ENST00000361648,;ATP11C,missense_variant,p.Asp380Val,ENST00000327569,;ATP11C,missense_variant,p.Asp377Val,ENST00000370557,;ATP11C,missense_variant,p.Asp380Val,ENST00000359686,;ATP11C,non_coding_transcript_exon_variant,,ENST00000460773,;	1238	140	133	SUCCESS
P2RY4	5030	.	GRCh37	X	69479048	69479048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	11	97	0	ENST00000374519.2:c.427G>T	p.Ala143Ser	p.A143S	ENST00000374519	NM_002565.3	143	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14398.1	427	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGCCCGAA	NONE	.	.	Prints_domain:PR01066,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231:SF21,hmmpanther:PTHR24231,PROSITE_profiles:PS50262	.	.	ENSP00000363643	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374519	Transcript	.	.	ENSG00000186912	8542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(1)	.	P2RY4_HUMAN	P2RY4	HGNC	C6G7W3_HUMAN	.	UPI000002E776	SNV	P2RY4,missense_variant,p.Ala143Ser,ENST00000374519,;	607	97	108	SUCCESS
KDM5D	8284	.	GRCh37	Y	21901515	21901515	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	83	0	ENST00000317961.4:c.556A>G	p.Lys186Glu	p.K186E	ENST00000317961	NM_004653.4	186	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14794.1	556	MUTECT|MUSE	.	ATCTTTTACCT	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF31	.	.	ENSP00000322408	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000317961	Transcript	.	.	ENSG00000012817	11115	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	deleterious(0.04)	.	KDM5D_HUMAN	KDM5D	HGNC	.	.	UPI0000135A93	SNV	KDM5D,missense_variant,p.Lys129Glu,ENST00000382806,;KDM5D,missense_variant,p.Lys145Glu,ENST00000440077,;KDM5D,missense_variant,p.Lys186Glu,ENST00000317961,;KDM5D,missense_variant,p.Lys186Glu,ENST00000541639,;KDM5D,intron_variant,,ENST00000447300,;	828	83	98	SUCCESS
LBX1	10660	.	GRCh37	10	102988554	102988554	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs771528976	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	93	0	ENST00000370193.2:c.19G>T	p.Gly7Cys	p.G7C	ENST00000370193	NM_006562.4	7	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31270.1	19	MUTECT|MUSE	.	CTTGCCGTCCT	NONE	.	.	hmmpanther:PTHR24336:SF7,hmmpanther:PTHR24336	.	.	ENSP00000359212	.	1/2	.	.	.	.	.	.	.	.	rs771528976	1/2	nonpreferredpair	ENST00000370193	Transcript	.	.	ENSG00000138136	16960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.59)	.	deleterious_low_confidence(0.05)	.	LBX1_HUMAN	LBX1	HGNC	Q6LBH2_HUMAN	.	UPI00001F95A1	SNV	LBX1,missense_variant,p.Gly7Cys,ENST00000370193,;LBX1-AS1,upstream_gene_variant,,ENST00000546988,;LBX1-AS1,upstream_gene_variant,,ENST00000547077,;LBX1-AS1,upstream_gene_variant,,ENST00000454527,;	998	93	46	SUCCESS
SH3PXD2A	9644	.	GRCh37	10	105362908	105362908	+	synonymous_variant	Silent	SNP	G	G	T	rs914674678	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	33	0	ENST00000369774.4:c.2067C>A	p.Ser689=	p.S689=	ENST00000369774		689	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS31278.1	1983	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGGAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7	.	.	ENSP00000348215	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000355946	Transcript	.	.	ENSG00000107957	23664	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPD2A_HUMAN	SH3PXD2A	HGNC	.	.	UPI000041B175	SNV	SH3PXD2A,synonymous_variant,p.%3D,ENST00000540321,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000538130,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000420222,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000369774,;SH3PXD2A,synonymous_variant,p.%3D,ENST00000355946,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;	2123	33	49	SUCCESS
PARD3	56288	.	GRCh37	10	34671814	34671814	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	207	16	243	0	ENST00000374789.3:c.1053C>T	p.Pro351=	p.P351=	ENST00000374789	NM_019619.3	351	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7178.1	1053	MUTECT|MUSE	.	ATGATGGGTGT	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000363921	.	9/25	.	.	.	.	.	.	.	.	.	9/25	nonpreferredpair	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,synonymous_variant,p.%3D,ENST00000545260,;PARD3,synonymous_variant,p.%3D,ENST00000545693,;PARD3,synonymous_variant,p.%3D,ENST00000374788,;PARD3,synonymous_variant,p.%3D,ENST00000544292,;PARD3,synonymous_variant,p.%3D,ENST00000340077,;PARD3,synonymous_variant,p.%3D,ENST00000374790,;PARD3,synonymous_variant,p.%3D,ENST00000374776,;PARD3,synonymous_variant,p.%3D,ENST00000374773,;PARD3,synonymous_variant,p.%3D,ENST00000374794,;PARD3,synonymous_variant,p.%3D,ENST00000350537,;PARD3,synonymous_variant,p.%3D,ENST00000374789,;PARD3,synonymous_variant,p.%3D,ENST00000346874,;	1379	243	223	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37506628	37506628	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746152021	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	46	0	ENST00000361713.1:c.2921C>T	p.Thr974Ile	p.T974I	ENST00000361713	NM_052997.2	974	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS7193.1	2921	MUTECT|MUSE	.	ATTGACTTTAA	NONE	byFrequency	.	.	.	.	ENSP00000354432	.	33/36	.	.	.	.	.	.	.	.	rs746152021	33/36	nonpreferredpair	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.86)	.	deleterious(0.01)	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,missense_variant,p.Thr1093Ile,ENST00000374660,;ANKRD30A,missense_variant,p.Thr974Ile,ENST00000361713,;ANKRD30A,missense_variant,p.Thr974Ile,ENST00000602533,;	3020	46	61	SUCCESS
PCDH15	65217	.	GRCh37	10	55719518	55719518	+	synonymous_variant	Silent	SNP	G	G	A	rs370200250	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	54	0	ENST00000320301.6:c.3096C>T	p.Ile1032=	p.I1032=	ENST00000320301	NM_033056.3	1032	atC/atT	0	T:0	.	.	.	.	A	I	protein_coding	YES	CCDS44404.1	3096	MUTECT|MUSE|VARSCANS	.	CGTGGGATCTC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	T:0.0001	ENSP00000354950	.	23/34	.	.	.	.	.	.	.	.	rs370200250	23/34	nonpreferredpair	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000395445,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000409834,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395438,;PCDH15,synonymous_variant,p.%3D,ENST00000414778,;PCDH15,synonymous_variant,p.%3D,ENST00000373965,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	3491	54	63	SUCCESS
BTAF1	9044	.	GRCh37	10	93749020	93749020	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	90	0	ENST00000265990.6:c.2537A>G	p.Asn846Ser	p.N846S	ENST00000265990	NM_003972.2	846	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS7419.1	2537	MUTECT|MUSE	.	GACCAACCAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12054,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	20/38	.	.	.	.	.	.	.	.	.	20/38	nonpreferredpair	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(1)	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,missense_variant,p.Asn846Ser,ENST00000265990,;BTAF1,non_coding_transcript_exon_variant,,ENST00000471217,;	2845	90	100	SUCCESS
KRTAP5-2	440021	.	GRCh37	11	1619335	1619335	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	13	136	0	ENST00000412090.1:c.146G>A	p.Cys49Tyr	p.C49Y	ENST00000412090	NM_001004325.1	49	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31331.1	146	MUTECT|MUSE|VARSCANS	.	CCCCACAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF29	.	.	ENSP00000400041	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000412090	Transcript	.	.	ENSG00000205867	23597	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	KRA52_HUMAN	KRTAP5-2	HGNC	.	.	UPI0000241C20	SNV	KRTAP5-2,missense_variant,p.Cys49Tyr,ENST00000412090,;KRTAP5-AS1,non_coding_transcript_exon_variant,,ENST00000424148,;KRTAP5-AS1,downstream_gene_variant,,ENST00000534077,;KRTAP5-AS1,downstream_gene_variant,,ENST00000532922,;KRTAP5-AS1,downstream_gene_variant,,ENST00000524947,;	190	136	151	SUCCESS
ANO4	121601	.	GRCh37	12	101520845	101520845	+	synonymous_variant	Silent	SNP	G	G	A	rs779812218	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	193	0	ENST00000392977.3:c.2865G>A	p.Pro955=	p.P955=	ENST00000392977	NM_001286615.1	955	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31884.1	2760	MUTECT|MUSE	.	TGGCCGTGACC	NONE	byFrequency	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	.	.	ENSP00000376705	.	26/27	.	.	.	.	.	.	.	.	rs779812218	26/27	nonpreferredpair	ENST00000392979	Transcript	.	.	ENSG00000151572	23837	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANO4_HUMAN	ANO4	HGNC	.	.	UPI0000198E2E	SNV	ANO4,synonymous_variant,p.%3D,ENST00000550015,;ANO4,synonymous_variant,p.%3D,ENST00000299222,;ANO4,synonymous_variant,p.%3D,ENST00000392977,;ANO4,synonymous_variant,p.%3D,ENST00000392979,;	3121	193	161	SUCCESS
DENND5B	160518	.	GRCh37	12	31552686	31552686	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	9	147	0	ENST00000389082.5:c.2970G>T	p.Leu990=	p.L990=	ENST00000389082	NM_144973.3	990	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44857.1	2970	MUTECT|MUSE	.	GTGGTCAGCTT	NONE	.	.	Superfamily_domains:SSF49723,Gene3D:2.60.60.20,Pfam_domain:PF01477,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50095	.	.	ENSP00000373734	.	16/21	.	.	.	.	.	.	.	.	.	16/21	nonpreferredpair	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,synonymous_variant,p.%3D,ENST00000536562,;DENND5B,synonymous_variant,p.%3D,ENST00000306833,;DENND5B,synonymous_variant,p.%3D,ENST00000389082,;RNU6-618P,downstream_gene_variant,,ENST00000363518,;	3235	147	188	SUCCESS
KRT73	319101	.	GRCh37	12	53004991	53004991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	13	112	0	ENST00000305748.3:c.1107G>T	p.Lys369Asn	p.K369N	ENST00000305748	NM_175068.2	369	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS8834.1	1107	MUTECT|MUSE|VARSCANS	.	ACCTGCTTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000307014	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,missense_variant,p.Lys114Asn,ENST00000552855,;KRT73,missense_variant,p.Lys369Asn,ENST00000305748,;RP11-641A6.2,non_coding_transcript_exon_variant,,ENST00000552364,;RP11-641A6.2,intron_variant,,ENST00000551089,;RP11-641A6.2,upstream_gene_variant,,ENST00000549180,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	1142	112	140	SUCCESS
USP5	8078	.	GRCh37	12	6975155	6975155	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	6	114	0	ENST00000229268.8:c.2491A>T	p.Ile831Phe	p.I831F	ENST00000229268	NM_001098536.1	831	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS41743.1	2491	MUTECT|MUSE	.	GGGTGATCTAC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001	.	.	ENSP00000229268	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,missense_variant,p.Ile831Phe,ENST00000229268,;USP5,missense_variant,p.Ile808Phe,ENST00000389231,;TPI1,upstream_gene_variant,,ENST00000396705,;TPI1,upstream_gene_variant,,ENST00000488464,;TPI1,upstream_gene_variant,,ENST00000495834,;TPI1,upstream_gene_variant,,ENST00000493987,;USP5,downstream_gene_variant,,ENST00000542087,;TPI1,upstream_gene_variant,,ENST00000229270,;SPSB2,downstream_gene_variant,,ENST00000523102,;TPI1,upstream_gene_variant,,ENST00000535434,;TPI1,upstream_gene_variant,,ENST00000462761,;SPSB2,downstream_gene_variant,,ENST00000524270,;USP5,downstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000542371,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;TPI1,upstream_gene_variant,,ENST00000482209,;TPI1,upstream_gene_variant,,ENST00000474253,;	2543	114	139	SUCCESS
RPS4XP16	220433	.	GRCh37	13	52034979	52034979	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	28	0	ENST00000595905.1:n.338G>A		p.*113*	ENST00000595905				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGAGTCT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000595905	Transcript	.	.	ENSG00000224892	36365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RPS4XP16	HGNC	.	.	.	SNV	INTS6-AS1,intron_variant,,ENST00000597745,;INTS6-AS1,intron_variant,,ENST00000595997,;INTS6-AS1,intron_variant,,ENST00000601572,;INTS6-AS1,intron_variant,,ENST00000596050,;INTS6-AS1,intron_variant,,ENST00000602089,;INTS6-AS1,intron_variant,,ENST00000594604,;INTS6-AS1,intron_variant,,ENST00000593709,;INTS6-AS1,intron_variant,,ENST00000593429,;INTS6-AS1,intron_variant,,ENST00000601318,;INTS6-AS1,intron_variant,,ENST00000598864,;INTS6-AS1,intron_variant,,ENST00000593672,;INTS6-AS1,intron_variant,,ENST00000594358,;INTS6-AS1,intron_variant,,ENST00000595424,;INTS6-AS1,intron_variant,,ENST00000595435,;INTS6-AS1,intron_variant,,ENST00000434512,;INTS6-AS1,intron_variant,,ENST00000594488,;INTS6-AS1,intron_variant,,ENST00000600477,;INTS6-AS1,intron_variant,,ENST00000594959,;INTS6-AS1,intron_variant,,ENST00000593928,;INTS6-AS1,intron_variant,,ENST00000601034,;INTS6-AS1,intron_variant,,ENST00000596180,;INTS6-AS1,intron_variant,,ENST00000599315,;INTS6-AS1,intron_variant,,ENST00000596303,;RPS4XP16,non_coding_transcript_exon_variant,,ENST00000595905,;RPS4XP16,non_coding_transcript_exon_variant,,ENST00000596904,;RPS4XP16,non_coding_transcript_exon_variant,,ENST00000427198,;	338	28	37	SUCCESS
SPATA7	55812	.	GRCh37	14	88904449	88904449	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1284148609	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	9	64	0	ENST00000393545.4:c.1483A>G	p.Ile495Val	p.I495V	ENST00000393545	NM_018418.4	495	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9883.1	1483	MUTECT|MUSE|VARSCANS	.	TGCCTATTTAT	NONE	.	.	hmmpanther:PTHR14917	.	.	ENSP00000377176	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000393545	Transcript	.	.	ENSG00000042317	20423	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.41)	.	SPAT7_HUMAN	SPATA7	HGNC	.	.	UPI00000712C7	SNV	SPATA7,missense_variant,p.Ile463Val,ENST00000356583,;SPATA7,missense_variant,p.Ile495Val,ENST00000393545,;SPATA7,missense_variant,p.Ile463Val,ENST00000556553,;SPATA7,intron_variant,,ENST00000554802,;SPATA7,intron_variant,,ENST00000045347,;SPATA7,intron_variant,,ENST00000556406,;SPATA7,non_coding_transcript_exon_variant,,ENST00000556666,;SPATA7,non_coding_transcript_exon_variant,,ENST00000553626,;SPATA7,downstream_gene_variant,,ENST00000553303,;	1772	64	107	SUCCESS
SYNE3	161176	.	GRCh37	14	95916270	95916270	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs201231576	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	20	296	0	ENST00000334258.5:c.1447G>A	p.Glu483Lys	p.E483K	ENST00000334258	NM_152592.3	483	Gag/Aag	0	G:0.0005	G:0.003	.	G:0	.	T	E/K	protein_coding	YES	CCDS9935.1	1447	MUTECT|MUSE	.	TACCTCGATCT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	G:0	G:0	ENSP00000334308	G:0	7/17	.	.	.	.	.	.	.	.	rs201231576	7/17	nonpreferredpair	ENST00000334258	Transcript	.	G:0.0008	ENSG00000176438	19861	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.334)	G:0	deleterious(0.05)	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,missense_variant,p.Glu240Lys,ENST00000554873,;SYNE3,missense_variant,p.Glu483Lys,ENST00000334258,;SYNE3,missense_variant,p.Glu483Lys,ENST00000557275,;SYNE3,missense_variant,p.Glu483Lys,ENST00000553340,;SYNE3,splice_region_variant,,ENST00000555759,;	1462	296	293	SUCCESS
AC004381.6	0	.	GRCh37	16	20817829	20817829	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs1305103998	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	36	0	ENST00000261377.6:c.-201C>G		p.*67*	ENST00000261377	NM_030941.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10591.1	.	MUTECT|MUSE|VARSCANS	.	AAGCCCGCGAG	NONE	.	.	.	.	.	ENSP00000261377	.	1/20	.	.	.	.	.	.	.	.	.	1/20	nonpreferredpair	ENST00000261377	Transcript	.	.	ENSG00000005189	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REXON_HUMAN	AC004381.6	Clone_based_vega_gene	H3BV93_HUMAN,H3BUT7_HUMAN,H3BSE4_HUMAN,H3BSC5_HUMAN,H3BR13_HUMAN,H3BQ98_HUMAN,H3BPB2_HUMAN,H3BM72_HUMAN	.	UPI0000073454	SNV	AC004381.6,5_prime_UTR_variant,,ENST00000568046,;ERI2,5_prime_UTR_variant,,ENST00000563117,;AC004381.6,5_prime_UTR_variant,,ENST00000261377,;ERI2,intron_variant,,ENST00000564349,;AC004381.6,intron_variant,,ENST00000568894,;AC004381.6,upstream_gene_variant,,ENST00000568647,;AC004381.6,upstream_gene_variant,,ENST00000564274,;ERI2,upstream_gene_variant,,ENST00000569729,;AC004381.6,upstream_gene_variant,,ENST00000563068,;AC004381.6,upstream_gene_variant,,ENST00000566276,;AC004381.6,upstream_gene_variant,,ENST00000568501,;ERI2,upstream_gene_variant,,ENST00000389345,;AC004381.6,upstream_gene_variant,,ENST00000565340,;ERI2,upstream_gene_variant,,ENST00000357967,;AC004381.6,upstream_gene_variant,,ENST00000563617,;ERI2,upstream_gene_variant,,ENST00000300005,;AC004381.6,upstream_gene_variant,,ENST00000348433,;ERI2,upstream_gene_variant,,ENST00000568251,;ERI2,upstream_gene_variant,,ENST00000563537,;ERI2,upstream_gene_variant,,ENST00000565884,;AC004381.6,upstream_gene_variant,,ENST00000568476,;ERI2,upstream_gene_variant,,ENST00000566223,;ERI2,upstream_gene_variant,,ENST00000567562,;ERI2,upstream_gene_variant,,ENST00000562277,;AC004381.6,upstream_gene_variant,,ENST00000567297,;AC004381.6,5_prime_UTR_variant,,ENST00000566993,;ERI2,upstream_gene_variant,,ENST00000568805,;AC004381.6,upstream_gene_variant,,ENST00000566518,;ERI2,upstream_gene_variant,,ENST00000567859,;	9	36	27	SUCCESS
PAQR4	124222	.	GRCh37	16	3021213	3021213	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751635157	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	155	0	ENST00000318782.8:c.222G>T	p.Gln74His	p.Q74H	ENST00000318782	NM_152341.3	74	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS10485.1	222	MUTECT|MUSE	.	GGTCAGCTGGG	NONE	.	.	Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF30	.	.	ENSP00000321804	.	2/3	.	.	.	.	.	.	.	.	rs751635157	2/3	nonpreferredpair	ENST00000318782	Transcript	.	.	ENSG00000162073	26386	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.819)	.	tolerated(0.06)	.	PAQR4_HUMAN	PAQR4	HGNC	I3L1A2_HUMAN	.	UPI0000072F38	SNV	PAQR4,missense_variant,p.Gln7His,ENST00000576565,;PAQR4,missense_variant,p.Gln7His,ENST00000574988,;PAQR4,missense_variant,p.Gln74His,ENST00000318782,;PKMYT1,intron_variant,,ENST00000431515,;PAQR4,intron_variant,,ENST00000572687,;PAQR4,intron_variant,,ENST00000293978,;KREMEN2,downstream_gene_variant,,ENST00000303746,;PKMYT1,downstream_gene_variant,,ENST00000574415,;PKMYT1,downstream_gene_variant,,ENST00000262300,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000573944,;PKMYT1,downstream_gene_variant,,ENST00000576268,;PKMYT1,downstream_gene_variant,,ENST00000440027,;KREMEN2,downstream_gene_variant,,ENST00000571007,;KREMEN2,downstream_gene_variant,,ENST00000319500,;KREMEN2,downstream_gene_variant,,ENST00000572045,;KREMEN2,downstream_gene_variant,,ENST00000575885,;PKMYT1,downstream_gene_variant,,ENST00000574730,;PKMYT1,downstream_gene_variant,,ENST00000572059,;KREMEN2,downstream_gene_variant,,ENST00000575769,;PKMYT1,downstream_gene_variant,,ENST00000575632,;PKMYT1,downstream_gene_variant,,ENST00000574385,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,upstream_gene_variant,,ENST00000571102,;PKMYT1,upstream_gene_variant,,ENST00000572832,;PKMYT1,downstream_gene_variant,,ENST00000575981,;PKMYT1,downstream_gene_variant,,ENST00000574680,;PKMYT1,downstream_gene_variant,,ENST00000382240,;	652	155	129	SUCCESS
ZNF629	23361	.	GRCh37	16	30794703	30794703	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	12	146	1	ENST00000262525.4:c.946A>T	p.Lys316Ter	p.K316*	ENST00000262525	NM_001080417.1	316	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS45463.1	946	MUTECT|MUSE	.	TGGCTTCTCGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF286,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000262525	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000262525	Transcript	.	.	ENSG00000102870	29008	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN629_HUMAN	ZNF629	HGNC	.	.	UPI00001C1FA5	SNV	ZNF629,stop_gained,p.Lys316Ter,ENST00000262525,;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	1154	147	199	SUCCESS
WNK4	65266	.	GRCh37	17	40937151	40937151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	6	153	0	ENST00000246914.5:c.1207C>A	p.Pro403Thr	p.P403T	ENST00000246914	NM_032387.4	403	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS11439.1	1207	MUTECT|MUSE	.	AGATACCCGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000246914	.	5/19	.	.	.	.	.	.	.	.	.	5/19	nonpreferredpair	ENST00000246914	Transcript	.	.	ENSG00000126562	14544	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	WNK4_HUMAN	WNK4	HGNC	B0LPI0_HUMAN	.	UPI000006FC0F	SNV	WNK4,missense_variant,p.Pro403Thr,ENST00000246914,;WNK4,upstream_gene_variant,,ENST00000587705,;WNK4,intron_variant,,ENST00000591448,;WNK4,upstream_gene_variant,,ENST00000592072,;WNK4,downstream_gene_variant,,ENST00000592669,;	1228	153	122	SUCCESS
SYDE1	85360	.	GRCh37	19	15220108	15220108	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	8	183	0	ENST00000342784.2:c.330C>A	p.Ile110=	p.I110=	ENST00000342784	NM_033025.4	110	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS12324.1	330	MUTECT|MUSE	.	GAGATCTGGTA	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	SNV	SYDE1,synonymous_variant,p.%3D,ENST00000600440,;SYDE1,synonymous_variant,p.%3D,ENST00000342784,;SYDE1,synonymous_variant,p.%3D,ENST00000597977,;SYDE1,5_prime_UTR_variant,,ENST00000600252,;SYDE1,upstream_gene_variant,,ENST00000602203,;	361	183	210	SUCCESS
YIF1B	90522	.	GRCh37	19	38796124	38796124	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs979109170	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	20	259	0	ENST00000339413.6:c.813C>G	p.Ile271Met	p.I271M	ENST00000339413	NM_001039673.2	271	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS33010.1	813	MUTECT|MUSE|VARSCANS	.	GCCAAGATCTT	NONE	.	.	hmmpanther:PTHR14083,hmmpanther:PTHR14083:SF1,Pfam_domain:PF03878	.	.	ENSP00000343435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000339413	Transcript	.	.	ENSG00000167645	30511	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.411)	.	deleterious(0)	.	YIF1B_HUMAN	YIF1B	HGNC	K7EJQ6_HUMAN	.	UPI00005AB2F2	SNV	YIF1B,missense_variant,p.Ile205Met,ENST00000592246,;YIF1B,missense_variant,p.Ile240Met,ENST00000592694,;YIF1B,missense_variant,p.Ile256Met,ENST00000329420,;YIF1B,missense_variant,p.Ile271Met,ENST00000339413,;YIF1B,missense_variant,p.Ile240Met,ENST00000591784,;YIF1B,missense_variant,p.Ile240Met,ENST00000392124,;YIF1B,3_prime_UTR_variant,,ENST00000337679,;C19orf33,downstream_gene_variant,,ENST00000588605,;C19orf33,downstream_gene_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589151,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;C19orf33,downstream_gene_variant,,ENST00000591852,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;C19orf33,downstream_gene_variant,,ENST00000589986,;	859	259	231	SUCCESS
ATP1A3	478	.	GRCh37	19	42486221	42486221	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	251	17	247	0	ENST00000302102.5:c.1031A>T	p.Lys344Met	p.K344M	ENST00000302102	NM_152296.4	344	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS58664.1	1070	MUTECT|MUSE	.	AGTTCTTCCGG	NONE	.	.	Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093:SF259,hmmpanther:PTHR24093	.	.	ENSP00000444688	.	9/23	.	.	.	.	.	.	.	.	.	9/23	nonpreferredpair	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,missense_variant,p.Lys314Met,ENST00000602133,;ATP1A3,missense_variant,p.Lys357Met,ENST00000545399,;ATP1A3,missense_variant,p.Lys355Met,ENST00000543770,;ATP1A3,missense_variant,p.Lys344Met,ENST00000302102,;ATP1A3,downstream_gene_variant,,ENST00000473086,;ATP1A3,missense_variant,p.Lys344Met,ENST00000441343,;ATP1A3,downstream_gene_variant,,ENST00000485672,;	1224	247	268	SUCCESS
LYPD3	27076	.	GRCh37	19	43968547	43968547	+	synonymous_variant	Silent	SNP	G	G	A	rs368122649	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	10	115	0	ENST00000244333.3:c.141C>T	p.Asn47=	p.N47=	ENST00000244333	NM_014400.2	47	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS12620.1	141	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGTTCGG	NONE	byCluster	.	hmmpanther:PTHR10624:SF6,hmmpanther:PTHR10624,Pfam_domain:PF00021,SMART_domains:SM00134,Superfamily_domains:SSF57302	.	A:0.0001	ENSP00000244333	.	2/5	.	.	.	.	.	.	.	.	rs368122649	2/5	nonpreferredpair	ENST00000244333	Transcript	.	.	ENSG00000124466	24880	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYPD3_HUMAN	LYPD3	HGNC	B2RBR3_HUMAN	.	UPI000000D965	SNV	LYPD3,synonymous_variant,p.%3D,ENST00000244333,;LYPD3,non_coding_transcript_exon_variant,,ENST00000597741,;LYPD3,non_coding_transcript_exon_variant,,ENST00000595970,;LYPD3,upstream_gene_variant,,ENST00000594326,;	230	115	97	SUCCESS
CEACAM16	388551	.	GRCh37	19	45208989	45208989	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	8	292	0	ENST00000405314.2:c.791G>A	p.Trp264Ter	p.W264*	ENST00000405314		264	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS54278.1	791	MUTECT|MUSE	.	TGTGTGGACCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF127,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000466561	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000587331	Transcript	1	.	ENSG00000213892	31948	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CEA16_HUMAN	CEACAM16	HGNC	.	.	UPI00001D8176	SNV	CEACAM16,stop_gained,p.Trp264Ter,ENST00000587331,;CEACAM16,stop_gained,p.Trp264Ter,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	1006	292	283	SUCCESS
SYT3	84258	.	GRCh37	19	51129160	51129160	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1411577834	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	9	118	0	ENST00000338916.4:c.1396T>C	p.Phe466Leu	p.F466L	ENST00000338916	NM_032298.2	466	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS12798.1	1396	MUTECT|MUSE	.	TGAGAAGCCAG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000340914	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000338916	Transcript	.	.	ENSG00000213023	11511	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.64)	.	SYT3_HUMAN	SYT3	HGNC	M0QY70_HUMAN	.	UPI0000047AEB	SNV	SYT3,missense_variant,p.Phe466Leu,ENST00000593901,;SYT3,missense_variant,p.Phe466Leu,ENST00000600079,;SYT3,missense_variant,p.Phe466Leu,ENST00000544769,;SYT3,missense_variant,p.Phe466Leu,ENST00000338916,;SYT3,non_coding_transcript_exon_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	2030	118	128	SUCCESS
NLRP8	126205	.	GRCh37	19	56499259	56499259	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	110	0	ENST00000291971.3:c.3127C>G	p.Leu1043Val	p.L1043V	ENST00000291971	NM_176811.2	1043	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12937.1	3127	MUTECT|MUSE	.	ACTGCCTATCC	NONE	.	.	.	.	.	ENSP00000291971	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000291971	Transcript	.	.	ENSG00000179709	22940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.364)	.	deleterious_low_confidence(0)	.	NALP8_HUMAN	NLRP8	HGNC	.	.	UPI00001BB3C9	SNV	NLRP8,missense_variant,p.Leu1024Val,ENST00000590542,;NLRP8,missense_variant,p.Leu1043Val,ENST00000291971,;	3198	110	110	SUCCESS
A1BG	1	.	GRCh37	19	58863684	58863684	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	79	0	ENST00000263100.3:c.578C>T	p.Ser193Phe	p.S193F	ENST00000263100	NM_130786.3	193	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS12976.1	578	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCAGAGAGG	BUFFER|p.A191T|c.571G>A|3,BUFFER|p.G190G|c.570C>T|3	.	.	hmmpanther:PTHR11738:SF3,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000263100	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000263100	Transcript	.	.	ENSG00000121410	5	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	SNV	A1BG,missense_variant,p.Ser147Phe,ENST00000600966,;A1BG,missense_variant,p.Ser193Phe,ENST00000263100,;ZNF497,downstream_gene_variant,,ENST00000425453,;ZNF497,downstream_gene_variant,,ENST00000311044,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000595302,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	640	79	86	SUCCESS
PGD	5226	.	GRCh37	1	10468143	10468143	+	synonymous_variant	Silent	SNP	C	C	T	rs762072878	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	9	106	0	ENST00000270776.8:c.465C>T	p.Thr155=	p.T155=	ENST00000270776	NM_002631.2	155	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS113.1	465	MUTECT|MUSE	.	AAGACCATCTT	NONE	.	.	hmmpanther:PTHR11811,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR00873,Pfam_domain:PF03446,PIRSF_domain:PIRSF000109,Superfamily_domains:SSF51735	.	.	ENSP00000270776	.	6/13	.	.	.	.	.	.	.	.	rs762072878	6/13	nonpreferredpair	ENST00000270776	Transcript	.	.	ENSG00000142657	8891	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	6PGD_HUMAN	PGD	HGNC	K7EMN2_HUMAN,K7EM49_HUMAN,B4DV68_HUMAN,B4DQJ8_HUMAN	.	UPI0000169DB9	SNV	PGD,synonymous_variant,p.%3D,ENST00000270776,;PGD,synonymous_variant,p.%3D,ENST00000538557,;PGD,synonymous_variant,p.%3D,ENST00000541529,;PGD,synonymous_variant,p.%3D,ENST00000491493,;PGD,synonymous_variant,p.%3D,ENST00000465632,;PGD,synonymous_variant,p.%3D,ENST00000460189,;PGD,intron_variant,,ENST00000483936,;PGD,upstream_gene_variant,,ENST00000493288,;PGD,downstream_gene_variant,,ENST00000477958,;	503	106	129	SUCCESS
TAS1R3	83756	.	GRCh37	1	1269237	1269237	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	81	0	ENST00000339381.5:c.1952T>A	p.Leu651His	p.L651H	ENST00000339381	NM_152228.1	651	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS30556.1	1952	MUTECT|MUSE	.	CACACTCTTCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF2,Pfam_domain:PF00003	.	.	ENSP00000344411	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000339381	Transcript	.	.	ENSG00000169962	15661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	TS1R3_HUMAN	TAS1R3	HGNC	.	.	UPI0000051F47	SNV	TAS1R3,missense_variant,p.Leu651His,ENST00000339381,;DVL1,downstream_gene_variant,,ENST00000378891,;GLTPD1,downstream_gene_variant,,ENST00000343938,;DVL1,downstream_gene_variant,,ENST00000378888,;	1984	81	69	SUCCESS
SLAMF1	6504	.	GRCh37	1	160589594	160589594	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	75	0	ENST00000302035.6:c.836C>T	p.Thr279Met	p.T279M	ENST00000302035	NM_003037.2	279	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS1207.1	836	MUTECT|MUSE	.	AGATCGTAAGG	BUFFER|p.S277fs*54|c.829delA|13	.	.	hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49	.	.	ENSP00000306190	.	5/7	.	.	.	.	.	.	.	.	COSM898333	5/7	nonpreferredpair	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,missense_variant,p.Thr249Met,ENST00000235739,;SLAMF1,missense_variant,p.Thr279Met,ENST00000355199,;SLAMF1,missense_variant,p.Thr279Met,ENST00000302035,;SLAMF1,intron_variant,,ENST00000538290,;	1186	75	93	SUCCESS
BRINP3	339479	.	GRCh37	1	190068069	190068069	+	synonymous_variant	Silent	SNP	G	G	A	rs1348043617	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	8	97	0	ENST00000367462.3:c.1380C>T	p.Cys460=	p.C460=	ENST00000367462	NM_199051.1	460	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS1373.1	1380	MUTECT|MUSE	.	GTGCCGCAGCG	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564,Superfamily_domains:SSF57184	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	COSM2123628	8/8	nonpreferredpair	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,synonymous_variant,p.%3D,ENST00000534846,;BRINP3,synonymous_variant,p.%3D,ENST00000367462,;	1612	97	130	SUCCESS
UBR4	23352	.	GRCh37	1	19499468	19499468	+	synonymous_variant	Silent	SNP	C	C	T	rs866029301	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	121	0	ENST00000375254.3:c.3411G>A	p.Glu1137=	p.E1137=	ENST00000375254	NM_020765.2	1137	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS189.1	3411	MUTECT|MUSE|VARSCANS	.	AAATGCTCATC	NONE	.	.	hmmpanther:PTHR21725	.	.	ENSP00000364403	.	25/106	.	.	.	.	.	.	.	.	.	25/106	nonpreferredpair	ENST00000375254	Transcript	.	.	ENSG00000127481	30313	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBR4_HUMAN	UBR4	HGNC	Q96HY5_HUMAN	.	UPI000021276F	SNV	UBR4,synonymous_variant,p.%3D,ENST00000375254,;UBR4,synonymous_variant,p.%3D,ENST00000375217,;UBR4,synonymous_variant,p.%3D,ENST00000375267,;UBR4,synonymous_variant,p.%3D,ENST00000375226,;UBR4,upstream_gene_variant,,ENST00000417040,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	3439	121	140	SUCCESS
ZC3H11A	9877	.	GRCh37	1	203797536	203797536	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	9	189	0	ENST00000332127.4:c.284T>C	p.Leu95Pro	p.L95P	ENST00000332127		95	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS30978.1	284	MUTECT|MUSE	.	TTTCCTACCTC	NONE	.	.	hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2	.	.	ENSP00000438527	.	4/17	.	.	.	.	.	.	.	.	.	4/17	nonpreferredpair	ENST00000545588	Transcript	.	.	ENSG00000058673	29093	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.162)	.	deleterious(0.02)	.	ZC11A_HUMAN	ZC3H11A	HGNC	E9PBY7_HUMAN,C9J0L0_HUMAN,B4DLG2_HUMAN	.	UPI000006F3FD	SNV	ZC3H11A,missense_variant,p.Leu95Pro,ENST00000367212,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000453771,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000367210,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000367214,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000545588,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000332127,;ZC3H11A,upstream_gene_variant,,ENST00000480354,;ZC3H11A,missense_variant,p.Leu95Pro,ENST00000495527,;	4111	189	194	SUCCESS
SRGAP2	23380	.	GRCh37	1	206634640	206634640	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	32	300	0	ENST00000295713.5:c.2833G>T	p.Ala945Ser	p.A945S	ENST00000295713		945	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	2833	MUTECT|MUSE|VARSCANS	.	AGATGGCTGCC	NONE	.	.	hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166	.	.	ENSP00000295713	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000295713	Transcript	.	.	ENSG00000163486	19751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.036)	.	tolerated_low_confidence(0.11)	.	.	SRGAP2	HGNC	Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN	.	UPI000059D0A5	SNV	SRGAP2,missense_variant,p.Ala891Ser,ENST00000414007,;SRGAP2,missense_variant,p.Ala945Ser,ENST00000295713,;SRGAP2,downstream_gene_variant,,ENST00000419187,;SRGAP2,downstream_gene_variant,,ENST00000426388,;	2831	300	356	SUCCESS
LDLRAD2	401944	.	GRCh37	1	22148238	22148238	+	intron_variant	Intron	SNP	C	C	T	rs952464036	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	20	0	ENST00000344642.2:c.805+134C>T		p.*269*	ENST00000344642	NM_001013693.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30624.1	.	MUTECT|MUSE	.	GGTGGCGCTGG	NONE	.	.	.	.	.	ENSP00000340988	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000344642	Transcript	.	.	ENSG00000187942	32071	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRAD2_HUMAN	LDLRAD2	HGNC	.	.	UPI0000470177	SNV	LDLRAD2,intron_variant,,ENST00000344642,;LDLRAD2,intron_variant,,ENST00000543870,;HSPG2,downstream_gene_variant,,ENST00000374695,;LDLRAD2,non_coding_transcript_exon_variant,,ENST00000484271,;HSPG2,downstream_gene_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000481644,;	.	20	23	SUCCESS
CNST	163882	.	GRCh37	1	246811218	246811218	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767432925	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	8	121	0	ENST00000366513.4:c.1715A>G	p.Asp572Gly	p.D572G	ENST00000366513	NM_152609.2	572	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1628.1	1715	MUTECT|MUSE	.	CGACGACTCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000355470	.	9/11	.	.	.	.	.	.	.	.	rs767432925	9/11	nonpreferredpair	ENST00000366513	Transcript	.	.	ENSG00000162852	26486	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.333)	.	tolerated(0.05)	.	CNST_HUMAN	CNST	HGNC	.	.	UPI000013E1DF	SNV	CNST,missense_variant,p.Asp572Gly,ENST00000366513,;CNST,missense_variant,p.Asp572Gly,ENST00000366512,;CNST,non_coding_transcript_exon_variant,,ENST00000483271,;	1984	121	140	SUCCESS
FGR	2268	.	GRCh37	1	27949607	27949607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	15	295	1	ENST00000374003.3:c.275C>A	p.Thr92Asn	p.T92N	ENST00000374003	NM_001042729.1	92	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS305.1	275	MUTECT|MUSE	.	CCTCAGTTCGA	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF224,hmmpanther:PTHR24418,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000363117	.	4/13	.	.	.	.	.	.	.	.	.	4/13	nonpreferredpair	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,missense_variant,p.Thr92Asn,ENST00000374004,;FGR,missense_variant,p.Thr92Asn,ENST00000374003,;FGR,missense_variant,p.Thr92Asn,ENST00000457296,;FGR,missense_variant,p.Thr92Asn,ENST00000545953,;FGR,missense_variant,p.Thr92Asn,ENST00000399173,;FGR,missense_variant,p.Thr92Asn,ENST00000374005,;FGR,downstream_gene_variant,,ENST00000468038,;FGR,downstream_gene_variant,,ENST00000475472,;	564	296	282	SUCCESS
ZYG11B	79699	.	GRCh37	1	53279323	53279323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	76	0	ENST00000294353.6:c.1811G>A	p.Gly604Glu	p.G604E	ENST00000294353	NM_024646.2	604	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS30717.1	1811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAATTA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF21	.	.	ENSP00000294353	.	11/14	.	.	.	.	.	.	.	.	.	11/14	nonpreferredpair	ENST00000294353	Transcript	.	.	ENSG00000162378	25820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.675)	.	deleterious(0)	.	ZY11B_HUMAN	ZYG11B	HGNC	.	.	UPI00001C1D70	SNV	ZYG11B,missense_variant,p.Gly604Glu,ENST00000294353,;ZYG11B,missense_variant,p.Gly534Glu,ENST00000443756,;ZYG11B,3_prime_UTR_variant,,ENST00000545132,;	1956	76	90	SUCCESS
GNAS-AS1	149775	.	GRCh37	20	57415270	57415270	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	110	0	ENST00000424094.2:n.819+1722A>G		p.*273*	ENST00000424094				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|MUSE	.	TCTCCTGCTCC	NONE	.	3686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000601795	Transcript	.	.	ENSG00000268333	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP4-806M20.3	Clone_based_vega_gene	.	.	.	SNV	GNAS,missense_variant,p.Cys37Arg,ENST00000313949,;GNAS,missense_variant,p.Cys37Arg,ENST00000371098,;GNAS,missense_variant,p.Cys37Arg,ENST00000371075,;GNAS,upstream_gene_variant,,ENST00000419558,;GNAS,upstream_gene_variant,,ENST00000453292,;RP4-806M20.3,upstream_gene_variant,,ENST00000601795,;GNAS-AS1,non_coding_transcript_exon_variant,,ENST00000443966,;GNAS-AS1,intron_variant,,ENST00000598163,;GNAS-AS1,intron_variant,,ENST00000424094,;GNAS,upstream_gene_variant,,ENST00000482112,;GNAS,upstream_gene_variant,,ENST00000493744,;GNAS,upstream_gene_variant,,ENST00000490374,;GNAS,upstream_gene_variant,,ENST00000462499,;GNAS,upstream_gene_variant,,ENST00000491348,;GNAS,upstream_gene_variant,,ENST00000472183,;GNAS,upstream_gene_variant,,ENST00000467227,;	.	110	66	SUCCESS
NDUFV3	4731	.	GRCh37	21	44324091	44324091	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	53	0	ENST00000340344.4:c.170-4883A>G		p.*57*	ENST00000340344	NM_001001503.1	323		0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS33572.1	969	MUTECT|MUSE	.	CTGCAAGCCAG	NONE	.	.	hmmpanther:PTHR17117,hmmpanther:PTHR17117:SF1	.	.	ENSP00000346196	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000354250	Transcript	.	.	ENSG00000160194	7719	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUV3_HUMAN	NDUFV3	HGNC	.	.	UPI000037848B	SNV	NDUFV3,synonymous_variant,p.%3D,ENST00000354250,;NDUFV3,intron_variant,,ENST00000340344,;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460259,;NDUFV3,downstream_gene_variant,,ENST00000460740,;	1038	53	98	SUCCESS
ENTHD1	150350	.	GRCh37	22	40216999	40216999	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	46	0	ENST00000325157.6:c.831A>G		p.X277_splice	ENST00000325157	NM_152512.3	277	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13998.1	831	MUTECT|MUSE|VARSCANS	.	TTACCTGCACC	NONE	.	.	hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51	.	.	ENSP00000317431	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000325157	Transcript	.	.	ENSG00000176177	26352	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENTD1_HUMAN	ENTHD1	HGNC	.	.	UPI00000741D2	SNV	ENTHD1,synonymous_variant,p.%3D,ENST00000325157,;	1082	46	70	SUCCESS
WDR35	57539	.	GRCh37	2	20138103	20138103	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	55	0	ENST00000345530.3:c.2019T>C	p.Asp673=	p.D673=	ENST00000345530	NM_001006657.1	673	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS33152.1	2019	MUTECT|MUSE	.	CGGCTATCTCG	NONE	.	.	hmmpanther:PTHR16517:SF1,hmmpanther:PTHR16517,PIRSF_domain:PIRSF037536	.	.	ENSP00000314444	.	19/28	.	.	.	.	.	.	.	.	.	19/28	nonpreferredpair	ENST00000345530	Transcript	.	.	ENSG00000118965	29250	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR35_HUMAN	WDR35	HGNC	.	.	UPI000034E5D3	SNV	WDR35,synonymous_variant,p.%3D,ENST00000416055,;WDR35,synonymous_variant,p.%3D,ENST00000345530,;WDR35,synonymous_variant,p.%3D,ENST00000281405,;WDR35,synonymous_variant,p.%3D,ENST00000453014,;WDR35,synonymous_variant,p.%3D,ENST00000414212,;WDR35,3_prime_UTR_variant,,ENST00000445063,;	2135	55	45	SUCCESS
ACSL3	2181	.	GRCh37	2	223791787	223791787	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	67	0	ENST00000357430.3:c.1345T>G	p.Leu449Val	p.L449V	ENST00000357430	NM_004457.3	449	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2455.1	1345	MUTECT|MUSE	.	TCCTGTTGTGT	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF157,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000350012	.	12/17	.	.	.	.	.	.	.	.	.	12/17	nonpreferredpair	ENST00000357430	Transcript	.	.	ENSG00000123983	3570	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	ACSL3_HUMAN	ACSL3	HGNC	Q6PIM8_HUMAN,F5H062_HUMAN,F5GWH2_HUMAN,C9JC11_HUMAN,B3KMA6_HUMAN	.	UPI0000074742	SNV	ACSL3,missense_variant,p.Leu449Val,ENST00000392066,;ACSL3,missense_variant,p.Leu449Val,ENST00000357430,;ACSL3,intron_variant,,ENST00000407441,;ACSL3,downstream_gene_variant,,ENST00000421680,;ACSL3,upstream_gene_variant,,ENST00000474422,;	1876	67	105	SUCCESS
STARD7	56910	.	GRCh37	2	96861116	96861116	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	11	101	0	ENST00000337288.5:c.462G>A	p.Arg154=	p.R154=	ENST00000337288	NM_020151.3	154	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS2017.2	462	MUTECT|MUSE|VARSCANS	.	GGGCGCCGCCA	NONE	.	.	Superfamily_domains:SSF55961,SMART_domains:SM00234,Gene3D:3.30.530.20,Pfam_domain:PF01852,hmmpanther:PTHR19308:SF4,hmmpanther:PTHR19308,PROSITE_profiles:PS50848	.	.	ENSP00000338030	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000337288	Transcript	.	.	ENSG00000084090	18063	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAR7_HUMAN	STARD7	HGNC	C9JTD3_HUMAN	.	UPI0000001C0C	SNV	STARD7,synonymous_variant,p.%3D,ENST00000337288,;STARD7,synonymous_variant,p.%3D,ENST00000443962,;STARD7,non_coding_transcript_exon_variant,,ENST00000462501,;STARD7,non_coding_transcript_exon_variant,,ENST00000488084,;STARD7,upstream_gene_variant,,ENST00000495687,;	846	101	132	SUCCESS
WDR49	151790	.	GRCh37	3	167240162	167240162	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	34	0	ENST00000308378.3:c.1659T>C	p.Cys553=	p.C553=	ENST00000308378	NM_178824.3	553	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS3201.1	1659	MUTECT|MUSE	.	TCTAAACAAGA	NONE	.	.	hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844	.	.	ENSP00000311343	.	12/15	.	.	.	.	.	.	.	.	.	12/15	nonpreferredpair	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,synonymous_variant,p.%3D,ENST00000472600,;WDR49,synonymous_variant,p.%3D,ENST00000453925,;WDR49,synonymous_variant,p.%3D,ENST00000476376,;WDR49,synonymous_variant,p.%3D,ENST00000493061,;WDR49,synonymous_variant,p.%3D,ENST00000308378,;WDR49,intron_variant,,ENST00000479765,;	1965	34	39	SUCCESS
AP2M1	1173	.	GRCh37	3	183898651	183898651	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375328073	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	16	237	0	ENST00000292807.5:c.444G>T	p.Gln148His	p.Q148H	ENST00000292807	NM_004068.3	148	caG/caT	0	A:0	.	.	.	.	T	Q/H	protein_coding	YES	CCDS43177.1	444	MUTECT|MUSE	.	GAGCAGTCACA	NONE	byCluster	.	hmmpanther:PTHR11998,PIRSF_domain:PIRSF005992	.	A:0.0001	ENSP00000292807	.	6/12	.	.	.	.	.	.	.	.	rs375328073	6/12	nonpreferredpair	ENST00000292807	Transcript	.	.	ENSG00000161203	564	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.457)	.	deleterious(0.02)	.	AP2M1_HUMAN	AP2M1	HGNC	C9JJD3_HUMAN	.	UPI0000000DD8	SNV	AP2M1,missense_variant,p.Gln173His,ENST00000411763,;AP2M1,missense_variant,p.Val179Phe,ENST00000431779,;AP2M1,missense_variant,p.Gln148His,ENST00000292807,;AP2M1,missense_variant,p.Gln146His,ENST00000382456,;AP2M1,missense_variant,p.Gln150His,ENST00000448139,;AP2M1,missense_variant,p.Gln148His,ENST00000432591,;AP2M1,missense_variant,p.Gln146His,ENST00000439647,;EIF2B5,intron_variant,,ENST00000444495,;AP2M1,downstream_gene_variant,,ENST00000455925,;AP2M1,upstream_gene_variant,,ENST00000442686,;AP2M1,downstream_gene_variant,,ENST00000427072,;AP2M1,non_coding_transcript_exon_variant,,ENST00000461733,;AP2M1,downstream_gene_variant,,ENST00000460862,;AP2M1,non_coding_transcript_exon_variant,,ENST00000490151,;AP2M1,non_coding_transcript_exon_variant,,ENST00000468048,;AP2M1,non_coding_transcript_exon_variant,,ENST00000472560,;AP2M1,downstream_gene_variant,,ENST00000484469,;AP2M1,downstream_gene_variant,,ENST00000487958,;AP2M1,upstream_gene_variant,,ENST00000476434,;AP2M1,downstream_gene_variant,,ENST00000466598,;AP2M1,upstream_gene_variant,,ENST00000463935,;AP2M1,upstream_gene_variant,,ENST00000480260,;	592	237	208	SUCCESS
CTDSPL	10217	.	GRCh37	3	37988645	37988645	+	synonymous_variant	Silent	SNP	A	A	C	rs1575312322	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	49	1	ENST00000273179.5:c.177A>C	p.Pro59=	p.P59=	ENST00000273179	NM_001008392.1	59	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS33734.1	177	MUTECT|MUSE	.	CCTCCACCCAG	NONE	.	.	hmmpanther:PTHR12210:SF43,hmmpanther:PTHR12210,Low_complexity_(Seg):seg	.	.	ENSP00000273179	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000273179	Transcript	.	.	ENSG00000144677	16890	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTDSL_HUMAN	CTDSPL	HGNC	.	.	UPI00001BE8E2	SNV	CTDSPL,synonymous_variant,p.%3D,ENST00000443503,;CTDSPL,synonymous_variant,p.%3D,ENST00000273179,;CTDSPL,non_coding_transcript_exon_variant,,ENST00000486978,;CTDSPL,3_prime_UTR_variant,,ENST00000435525,;	203	50	62	SUCCESS
SCN10A	6336	.	GRCh37	3	38797277	38797277	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	5	131	1	ENST00000449082.2:c.1461+2T>C		p.X487_splice	ENST00000449082	NM_006514.2	487		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33736.1	.	MUTECT|MUSE	.	CTCTTACCATC	NONE	.	.	.	.	.	ENSP00000390600	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	HIGH	10/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,splice_donor_variant,,ENST00000449082,;	.	132	155	SUCCESS
CSRNP1	64651	.	GRCh37	3	39184867	39184867	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	7	145	0	ENST00000273153.5:c.1449G>C	p.Val483=	p.V483=	ENST00000273153	NM_033027.3	483	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS2682.1	1449	MUTECT|MUSE	.	GGTGGCACTGA	NONE	.	.	hmmpanther:PTHR13580:SF10,hmmpanther:PTHR13580	.	.	ENSP00000273153	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000273153	Transcript	.	.	ENSG00000144655	14300	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSRN1_HUMAN	CSRNP1	HGNC	.	.	UPI0000044242	SNV	CSRNP1,synonymous_variant,p.%3D,ENST00000514182,;CSRNP1,synonymous_variant,p.%3D,ENST00000273153,;TTC21A,downstream_gene_variant,,ENST00000440121,;TTC21A,downstream_gene_variant,,ENST00000301819,;TTC21A,downstream_gene_variant,,ENST00000431162,;TTC21A,downstream_gene_variant,,ENST00000493856,;TTC21A,downstream_gene_variant,,ENST00000472866,;TTC21A,downstream_gene_variant,,ENST00000460460,;TTC21A,downstream_gene_variant,,ENST00000430597,;	1627	145	121	SUCCESS
SEC22C	9117	.	GRCh37	3	42610528	42610528	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	18	233	0	ENST00000264454.3:c.11T>G	p.Ile4Ser	p.I4S	ENST00000264454		4	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS2700.1	11	MUTECT|MUSE	.	AAAAGATCACG	NONE	.	.	hmmpanther:PTHR21136:SF2,hmmpanther:PTHR21136,Gene3D:3.30.450.50,Superfamily_domains:SSF64356	.	.	ENSP00000264454	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000264454	Transcript	.	.	ENSG00000093183	16828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SC22C_HUMAN	SEC22C	HGNC	C9J9A4_HUMAN,C9J448_HUMAN,C9J2R1_HUMAN	.	UPI000006D0A7	SNV	SEC22C,missense_variant,p.Ile4Ser,ENST00000420163,;SEC22C,missense_variant,p.Ile4Ser,ENST00000273156,;SEC22C,missense_variant,p.Ile4Ser,ENST00000264454,;SEC22C,missense_variant,p.Ile4Ser,ENST00000450981,;SEC22C,missense_variant,p.Ile4Ser,ENST00000456515,;SEC22C,missense_variant,p.Ile4Ser,ENST00000416880,;SEC22C,missense_variant,p.Ile4Ser,ENST00000417572,;SEC22C,missense_variant,p.Ile4Ser,ENST00000423701,;SEC22C,5_prime_UTR_variant,,ENST00000536332,;SEC22C,non_coding_transcript_exon_variant,,ENST00000493107,;SEC22C,non_coding_transcript_exon_variant,,ENST00000456222,;SEC22C,missense_variant,p.Ile4Ser,ENST00000449617,;SEC22C,missense_variant,p.Ile4Ser,ENST00000454141,;SEC22C,missense_variant,p.Ile4Ser,ENST00000445388,;SEC22C,missense_variant,p.Ile4Ser,ENST00000383750,;SEC22C,upstream_gene_variant,,ENST00000487701,;	155	233	269	SUCCESS
HYAL1	3373	.	GRCh37	3	50340541	50340541	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	19	0	ENST00000266031.4:c.-154C>T		p.*52*	ENST00000266031				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2816.1	.	MUTECT|MUSE	.	CTGCAGGGCTC	NONE	.	.	.	.	.	ENSP00000266031	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000266031	Transcript	.	.	ENSG00000114378	5320	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYAL1_HUMAN	HYAL1	HGNC	C9JRK1_HUMAN,C9JB49_HUMAN	.	UPI000003FD9D	SNV	HYAL1,splice_region_variant,,ENST00000418723,;HYAL1,5_prime_UTR_variant,,ENST00000266031,;HYAL1,intron_variant,,ENST00000452672,;HYAL1,intron_variant,,ENST00000395143,;HYAL1,intron_variant,,ENST00000447605,;HYAL1,intron_variant,,ENST00000457214,;HYAL1,intron_variant,,ENST00000320295,;HYAL1,intron_variant,,ENST00000395144,;NAT6,upstream_gene_variant,,ENST00000417393,;HYAL3,upstream_gene_variant,,ENST00000450982,;NAT6,upstream_gene_variant,,ENST00000443842,;HYAL3,upstream_gene_variant,,ENST00000336307,;NAT6,upstream_gene_variant,,ENST00000443094,;NAT6,upstream_gene_variant,,ENST00000442620,;HYAL3,upstream_gene_variant,,ENST00000359051,;NAT6,upstream_gene_variant,,ENST00000354862,;HYAL3,upstream_gene_variant,,ENST00000415204,;NAT6,upstream_gene_variant,,ENST00000450489,;HYAL3,upstream_gene_variant,,ENST00000513170,;NAT6,upstream_gene_variant,,ENST00000452674,;	463	19	23	SUCCESS
CASP6	839	.	GRCh37	4	110615726	110615726	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	13	247	0	ENST00000265164.2:c.438C>G	p.Asp146Glu	p.D146E	ENST00000265164	NM_001226.3	146	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS3684.1	438	MUTECT|MUSE	.	CACTTGTCTCC	NONE	.	.	Superfamily_domains:SSF52129,SMART_domains:SM00115,Gene3D:3.40.50.1460,Pfam_domain:PF00656,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF144,PROSITE_profiles:PS50208	.	.	ENSP00000265164	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000265164	Transcript	.	.	ENSG00000138794	1507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.514)	.	deleterious(0.03)	.	CASP6_HUMAN	CASP6	HGNC	D6RHU3_HUMAN	.	UPI00000622E4	SNV	CASP6,missense_variant,p.Asp146Glu,ENST00000265164,;CASP6,missense_variant,p.Asp57Glu,ENST00000352981,;CASP6,missense_variant,p.Asp128Glu,ENST00000503684,;CASP6,downstream_gene_variant,,ENST00000505486,;AC004067.5,downstream_gene_variant,,ENST00000608733,;CASP6,non_coding_transcript_exon_variant,,ENST00000510324,;CASP6,non_coding_transcript_exon_variant,,ENST00000508203,;CASP6,non_coding_transcript_exon_variant,,ENST00000507550,;CASP6,non_coding_transcript_exon_variant,,ENST00000505117,;	516	247	245	SUCCESS
KIAA1239	0	.	GRCh37	4	37447618	37447618	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	5	76	0	ENST00000309447.5:c.4008A>T	p.Gly1336=	p.G1336=	ENST00000309447	NM_001144990.1	1336	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS47040.1	4008	MUTECT|MUSE	.	GATGGATCCGA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19857:SF18,hmmpanther:PTHR19857,Gene3D:2.130.10.10,Superfamily_domains:SSF82171	.	.	ENSP00000309501	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000309447	Transcript	.	.	ENSG00000174145	29229	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1239_HUMAN	KIAA1239	HGNC	.	.	UPI00006C0875	SNV	KIAA1239,synonymous_variant,p.%3D,ENST00000309447,;	4856	76	107	SUCCESS
KLB	152831	.	GRCh37	4	39448160	39448160	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1236022642	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	8	101	0	ENST00000257408.4:c.1814C>T	p.Ser605Leu	p.S605L	ENST00000257408	NM_175737.3	605	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3451.1	1814	MUTECT|MUSE	.	GGCCTCGGTCC	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.72)	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,missense_variant,p.Ser605Leu,ENST00000257408,;Y_RNA,downstream_gene_variant,,ENST00000459360,;	1911	101	124	SUCCESS
SH3TC2	79628	.	GRCh37	5	148407630	148407630	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	14	213	1	ENST00000515425.1:c.1665C>A	p.Ile555=	p.I555=	ENST00000515425	NM_024577.3	555	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4293.1	1665	MUTECT|MUSE	.	ATGTGGATGGC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	11/17	.	.	.	.	.	.	.	.	.	11/17	nonpreferredpair	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,synonymous_variant,p.%3D,ENST00000515425,;SH3TC2,synonymous_variant,p.%3D,ENST00000538184,;SH3TC2,synonymous_variant,p.%3D,ENST00000512049,;SH3TC2,synonymous_variant,p.%3D,ENST00000394358,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,synonymous_variant,p.%3D,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	1767	214	234	SUCCESS
CNOT6	57472	.	GRCh37	5	179956354	179956354	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	21	214	0	ENST00000261951.4:c.78A>G	p.Gly26=	p.G26=	ENST00000261951	NM_015455.3	26	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS4455.1	78	MUTECT|MUSE	.	AATGGAAAGAA	NONE	.	.	hmmpanther:PTHR12121:SF33,hmmpanther:PTHR12121	.	.	ENSP00000377024	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000393356	Transcript	.	.	ENSG00000113300	14099	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNOT6_HUMAN	CNOT6	HGNC	.	.	UPI000013D22B	SNV	CNOT6,synonymous_variant,p.%3D,ENST00000393356,;CNOT6,synonymous_variant,p.%3D,ENST00000261951,;CNOT6,synonymous_variant,p.%3D,ENST00000504343,;CNOT6,non_coding_transcript_exon_variant,,ENST00000502447,;CNOT6,intron_variant,,ENST00000507016,;RP11-451H23.1,downstream_gene_variant,,ENST00000502510,;	502	214	271	SUCCESS
FLT4	2324	.	GRCh37	5	180048894	180048894	+	synonymous_variant	Silent	SNP	G	G	A	rs143634822	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	14	183	1	ENST00000261937.6:c.1668C>T	p.Asp556=	p.D556=	ENST00000261937	NM_182925.4	556	gaC/gaT	0	A:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS4457.1	1668	MUTECT|MUSE	.	AAGCCGTCGGG	NONE	byCluster	.	Superfamily_domains:SSF48726,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50835	.	A:0	ENSP00000261937	.	13/30	.	.	.	.	.	.	.	.	rs143634822,COSM400659,COSM400658,COSM400660	13/30	nonpreferredpair	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	.	.	.	0,1,1,1	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,synonymous_variant,p.%3D,ENST00000502649,;FLT4,synonymous_variant,p.%3D,ENST00000261937,;FLT4,synonymous_variant,p.%3D,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	1747	184	176	SUCCESS
OR2V2	285659	.	GRCh37	5	180582509	180582509	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	18	278	0	ENST00000328275.1:c.567C>T	p.Ala189=	p.A189=	ENST00000328275	NM_206880.1	189	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4461.1	567	MUTECT|MUSE	.	CTGGCCTGTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000332185	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000328275	Transcript	.	.	ENSG00000182613	15341	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2V2_HUMAN	OR2V2	HGNC	.	.	UPI0000041C79	SNV	OR2V2,synonymous_variant,p.%3D,ENST00000328275,;	567	278	229	SUCCESS
IQGAP2	10788	.	GRCh37	5	75893275	75893275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	11	157	0	ENST00000274364.6:c.919G>T	p.Val307Leu	p.V307L	ENST00000274364	NM_006633.2	307	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS34188.1	919	MUTECT|MUSE	.	CTGCAGTGGAC	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12	.	.	ENSP00000274364	.	10/36	.	.	.	.	.	.	.	.	.	10/36	nonpreferredpair	ENST00000274364	Transcript	.	.	ENSG00000145703	6111	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.893)	.	tolerated(0.53)	.	IQGA2_HUMAN	IQGAP2	HGNC	E7EWC2_HUMAN,D6R939_HUMAN	.	UPI000020CB2C	SNV	IQGAP2,missense_variant,p.Val280Leu,ENST00000514350,;IQGAP2,missense_variant,p.Val257Leu,ENST00000505766,;IQGAP2,missense_variant,p.Val307Leu,ENST00000274364,;IQGAP2,5_prime_UTR_variant,,ENST00000379730,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000504815,;	1216	157	169	SUCCESS
MSH3	4437	.	GRCh37	5	80063794	80063794	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	8	89	0	ENST00000265081.6:c.1939C>G	p.His647Asp	p.H647D	ENST00000265081	NM_002439.4	647	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS34195.1	1939	MUTECT|MUSE	.	TATATCACCTA	NONE	.	.	Superfamily_domains:SSF48334,SMART_domains:SM00533,Gene3D:1.10.1420.10,Pfam_domain:PF05192,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF34	.	.	ENSP00000265081	.	14/24	.	.	.	.	.	.	.	.	.	14/24	nonpreferredpair	ENST00000265081	Transcript	1	.	ENSG00000113318	7326	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.216)	.	tolerated(0.07)	.	MSH3_HUMAN	MSH3	HGNC	.	.	UPI0000DBEE85	SNV	MSH3,missense_variant,p.His647Asp,ENST00000265081,;	2019	89	111	SUCCESS
CCNH	902	.	GRCh37	5	86705132	86705132	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	29	0	ENST00000256897.4:c.289A>G	p.Met97Val	p.M97V	ENST00000256897	NM_001239.3	97	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS4064.1	289	MUTECT|MUSE	.	TTCCATTACTG	NONE	.	.	hmmpanther:PTHR10026:SF66,hmmpanther:PTHR10026,Pfam_domain:PF00134,Gene3D:1.10.472.10,TIGRFAM_domain:TIGR00569,SMART_domains:SM00385,PIRSF_domain:PIRSF028758,Superfamily_domains:SSF47954	.	.	ENSP00000256897	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000256897	Transcript	.	.	ENSG00000134480	1594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.844)	.	deleterious(0)	.	CCNH_HUMAN	CCNH	HGNC	D6RHI7_HUMAN	.	UPI0000048D5B	SNV	CCNH,missense_variant,p.Met23Val,ENST00000508855,;CCNH,missense_variant,p.Met97Val,ENST00000256897,;CCNH,missense_variant,p.Met23Val,ENST00000504878,;CCNH,non_coding_transcript_exon_variant,,ENST00000510020,;CCNH,non_coding_transcript_exon_variant,,ENST00000513499,;CCNH,upstream_gene_variant,,ENST00000510921,;CCNH,non_coding_transcript_exon_variant,,ENST00000505230,;CCNH,upstream_gene_variant,,ENST00000505587,;CCNH,upstream_gene_variant,,ENST00000504115,;	514	29	56	SUCCESS
EPM2A	7957	.	GRCh37	6	145948714	145948714	+	synonymous_variant	Silent	SNP	G	G	A	rs759427349	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	86	0	ENST00000367519.3:c.834C>T	p.Cys278=	p.C278=	ENST00000367519	NM_005670.3	278	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS5206.1	834	MUTECT|MUSE	.	CAGCCGCAGAC	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF48,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000356489	.	4/4	.	.	.	.	.	.	.	.	rs759427349,HM0660	4/4	nonpreferredpair	ENST00000367519	Transcript	.	.	ENSG00000112425	3413	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	.	EPM2A_HUMAN	EPM2A	HGNC	H0UI04_HUMAN	.	UPI000006E60E	SNV	EPM2A,synonymous_variant,p.%3D,ENST00000367519,;EPM2A,synonymous_variant,p.%3D,ENST00000435470,;EPM2A,intron_variant,,ENST00000450221,;	1360	86	71	SUCCESS
GPR22	2845	.	GRCh37	7	107115727	107115727	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1289051978	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	75	0	ENST00000304402.4:c.1222C>A	p.Pro408Thr	p.P408T	ENST00000304402	NM_005295.2	408	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS5744.1	1222	MUTECT|MUSE	.	TAGATCCTAAA	NONE	.	.	hmmpanther:PTHR24241:SF1,hmmpanther:PTHR24241	.	.	ENSP00000302676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000304402	Transcript	.	.	ENSG00000172209	4477	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.099)	.	tolerated(0.53)	.	GPR22_HUMAN	GPR22	HGNC	Q59G39_HUMAN,A4D0R8_HUMAN	.	UPI000013E975	SNV	GPR22,missense_variant,p.Pro408Thr,ENST00000304402,;COG5,intron_variant,,ENST00000347053,;COG5,intron_variant,,ENST00000393603,;COG5,intron_variant,,ENST00000297135,;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;	2565	75	108	SUCCESS
MACC1	346389	.	GRCh37	7	20201371	20201371	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	27	0	ENST00000332878.4:c.115G>A	p.Glu39Lys	p.E39K	ENST00000332878		39	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5369.1	115	RADIA|MUTECT|MUSE|VARSCANS	.	CATACCTGTAA	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.069)	.	tolerated(0.63)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Glu39Lys,ENST00000589011,;MACC1,missense_variant,p.Glu39Lys,ENST00000400331,;MACC1,missense_variant,p.Glu39Lys,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	424	27	51	SUCCESS
IL6	3569	.	GRCh37	7	22767126	22767126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	6	60	0	ENST00000258743.5:c.83C>T	p.Ala28Val	p.A28V	ENST00000258743	NM_000600.3	28	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5375.1	83	MUTECT|MUSE	.	CCCTGCCCCAG	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001935,hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457	.	.	ENSP00000385675	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000404625	Transcript	.	.	ENSG00000136244	6018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.065)	.	deleterious(0.01)	.	IL6_HUMAN	IL6	HGNC	Q75MH2_HUMAN,H9C875_HUMAN,C9J5B0_HUMAN,B5MC21_HUMAN	.	UPI000002C4A6	SNV	IL6,missense_variant,p.Ala82Val,ENST00000420258,;IL6,missense_variant,p.Ala28Val,ENST00000258743,;IL6,missense_variant,p.Ala28Val,ENST00000426291,;IL6,missense_variant,p.Ala28Val,ENST00000406575,;IL6,missense_variant,p.Ala28Val,ENST00000404625,;IL6,splice_region_variant,,ENST00000401630,;IL6,intron_variant,,ENST00000401651,;IL6,intron_variant,,ENST00000407492,;AC073072.5,intron_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,upstream_gene_variant,,ENST00000464710,;	542	60	94	SUCCESS
EIF3B	8662	.	GRCh37	7	2406209	2406209	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	15	123	0	ENST00000360876.4:c.1339A>C	p.Ser447Arg	p.S447R	ENST00000360876	NM_001037283.1	447	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS5332.1	1339	MUTECT|MUSE|VARSCANS	.	CGCTTAGCATC	NONE	.	.	HAMAP:MF_03001,hmmpanther:PTHR14068,hmmpanther:PTHR14068:SF0,Gene3D:2.130.10.10,PIRSF_domain:PIRSF036424,Superfamily_domains:0047732	.	.	ENSP00000354125	.	8/19	.	.	.	.	.	.	.	.	.	8/19	nonpreferredpair	ENST00000360876	Transcript	.	.	ENSG00000106263	3280	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.973)	.	deleterious(0.02)	.	EIF3B_HUMAN	EIF3B	HGNC	Q86UM1_HUMAN,C9JQN7_HUMAN	.	UPI000013F934	SNV	EIF3B,missense_variant,p.Ser447Arg,ENST00000360876,;EIF3B,missense_variant,p.Ser447Arg,ENST00000397011,;EIF3B,downstream_gene_variant,,ENST00000431643,;EIF3B,downstream_gene_variant,,ENST00000413917,;EIF3B,non_coding_transcript_exon_variant,,ENST00000468250,;EIF3B,non_coding_transcript_exon_variant,,ENST00000463026,;EIF3B,non_coding_transcript_exon_variant,,ENST00000466199,;EIF3B,intron_variant,,ENST00000463229,;	1395	123	153	SUCCESS
CHN2	1124	.	GRCh37	7	29407578	29407578	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	49	0	ENST00000222792.6:c.119C>T	p.Pro40Leu	p.P40L	ENST00000222792	NM_004067.2	40	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5420.1	119	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCCCAAGA	NONE	.	.	Superfamily_domains:SSF55550,PIRSF_domain:PIRSF038015,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7	.	.	ENSP00000222792	.	3/13	.	.	.	.	.	.	.	.	COSM3366904,COSM3366905	3/13	nonpreferredpair	ENST00000222792	Transcript	.	.	ENSG00000106069	1944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.126)	.	deleterious(0)	1,1	CHIO_HUMAN	CHN2	HGNC	A4D1A2_HUMAN	.	UPI000012781F	SNV	CHN2,missense_variant,p.Pro53Leu,ENST00000409350,;CHN2,missense_variant,p.Pro115Leu,ENST00000439384,;CHN2,missense_variant,p.Pro40Leu,ENST00000435288,;CHN2,missense_variant,p.Pro25Leu,ENST00000546235,;CHN2,missense_variant,p.Pro115Leu,ENST00000539406,;CHN2,missense_variant,p.Pro53Leu,ENST00000495789,;CHN2,missense_variant,p.Pro40Leu,ENST00000222792,;CHN2,missense_variant,p.Pro40Leu,ENST00000539389,;CHN2,non_coding_transcript_exon_variant,,ENST00000409964,;CHN2,non_coding_transcript_exon_variant,,ENST00000482820,;CHN2,non_coding_transcript_exon_variant,,ENST00000478128,;CHN2,non_coding_transcript_exon_variant,,ENST00000409922,;CHN2,non_coding_transcript_exon_variant,,ENST00000412536,;CHN2,non_coding_transcript_exon_variant,,ENST00000483081,;CHN2,missense_variant,p.Pro74Ser,ENST00000474070,;	649	49	55	SUCCESS
IKZF1	10320	.	GRCh37	7	50444279	50444279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	10	97	0	ENST00000331340.3:c.209C>A	p.Ala70Asp	p.A70D	ENST00000331340	NM_006060.4	70	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS59055.1	209	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCCTGTG	CODON|p.?|c.1-?_850+?del|74,CODON|p.?|c.161-?_1560+?del|29,CODON|p.?|c.161-?_850+?del|163	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23	.	.	ENSP00000413025	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.599)	.	tolerated(0.16)	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.Ala70Asp,ENST00000331340,;IKZF1,missense_variant,p.Ala70Asp,ENST00000349824,;IKZF1,missense_variant,p.Ala70Asp,ENST00000440768,;IKZF1,missense_variant,p.Ala70Asp,ENST00000357364,;IKZF1,missense_variant,p.Ala70Asp,ENST00000359197,;IKZF1,missense_variant,p.Ala70Asp,ENST00000439701,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,intron_variant,,ENST00000343574,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,intron_variant,,ENST00000438033,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;IKZF1,non_coding_transcript_exon_variant,,ENST00000462201,;	408	97	111	SUCCESS
CYP3A5	1577	.	GRCh37	7	99273802	99273802	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	215	23	168	0	ENST00000222982.4:c.101A>G	p.Lys34Arg	p.K34R	ENST00000222982	NM_000777.3	34	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS5672.1	101	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTTAAAA	NONE	.	.	Superfamily_domains:SSF48264,Gene3D:1.10.630.10,hmmpanther:PTHR24302:SF3,hmmpanther:PTHR24302	.	.	ENSP00000222982	.	2/13	.	.	.	.	.	.	.	.	.	2/13	nonpreferredpair	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.061)	.	deleterious(0.02)	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,missense_variant,p.Lys34Arg,ENST00000222982,;CYP3A5,missense_variant,p.Lys34Arg,ENST00000439761,;CYP3A5,missense_variant,p.Lys24Arg,ENST00000343703,;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,3_prime_UTR_variant,,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;	201	168	239	SUCCESS
C8orf74	203076	.	GRCh37	8	10530197	10530197	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374988450	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	9	118	0	ENST00000304519.5:c.22G>A	p.Gly8Arg	p.G8R	ENST00000304519	NM_001040032.1	8	Gga/Aga	0	T:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS47800.1	22	MUTECT|MUSE	.	CCCAGGGAGTG	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000307129	.	1/4	.	.	.	.	.	.	.	.	rs374988450	1/4	nonpreferredpair	ENST00000304519	Transcript	.	.	ENSG00000171060	32296	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.889)	.	deleterious(0)	.	CH074_HUMAN	C8orf74	HGNC	.	.	UPI00001D82A9	SNV	C8orf74,missense_variant,p.Gly7Arg,ENST00000521818,;C8orf74,missense_variant,p.Gly8Arg,ENST00000304519,;C8orf74,non_coding_transcript_exon_variant,,ENST00000524025,;C8orf74,non_coding_transcript_exon_variant,,ENST00000517414,;RP1L1,intron_variant,,ENST00000329335,;C8orf74,upstream_gene_variant,,ENST00000519925,;C8orf74,missense_variant,p.Gly8Arg,ENST00000523289,;C8orf74,missense_variant,p.Gly8Arg,ENST00000523723,;	51	118	135	SUCCESS
SCRIB	23513	.	GRCh37	8	144891130	144891130	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	89	0	ENST00000320476.3:c.1764G>T	p.Gln588His	p.Q588H	ENST00000320476	NM_015356.4	588	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS6412.1	1764	MUTECT|MUSE	.	TCAGGCTGCCC	NONE	.	.	.	.	.	ENSP00000349486	.	15/37	.	.	.	.	.	.	.	.	.	15/37	nonpreferredpair	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.739)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Gln507His,ENST00000377533,;SCRIB,missense_variant,p.Gln588His,ENST00000356994,;SCRIB,missense_variant,p.Gln588His,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000526832,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	1771	89	85	SUCCESS
CSMD1	64478	.	GRCh37	8	3072177	3072177	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	8	117	0	ENST00000537824.1:c.4709T>C	p.Ile1570Thr	p.I1570T	ENST00000537824	NM_033225.5	1570	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS55189.1	4709	MUTECT|MUSE	.	TCATTATATTT	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	30/70	.	.	.	.	.	.	.	.	.	30/70	nonpreferredpair	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.713)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Ile1571Thr,ENST00000400186,;CSMD1,missense_variant,p.Ile1570Thr,ENST00000542608,;CSMD1,missense_variant,p.Ile1571Thr,ENST00000602723,;CSMD1,missense_variant,p.Ile1051Thr,ENST00000335551,;CSMD1,missense_variant,p.Ile1570Thr,ENST00000537824,;CSMD1,missense_variant,p.Ile1571Thr,ENST00000520002,;CSMD1,missense_variant,p.Ile1570Thr,ENST00000539096,;CSMD1,missense_variant,p.Ile1571Thr,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	4709	117	128	SUCCESS
UNC5D	137970	.	GRCh37	8	35608295	35608295	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	237	20	206	1	ENST00000404895.2:c.2131T>C	p.Tyr711His	p.Y711H	ENST00000404895	NM_080872.2	711	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS6093.2	2131	MUTECT|MUSE	.	GAGTTTACTGT	NONE	.	.	hmmpanther:PTHR12582:SF5,hmmpanther:PTHR12582	.	.	ENSP00000385143	.	13/17	.	.	.	.	.	.	.	.	.	13/17	nonpreferredpair	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.21)	.	deleterious(0.01)	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,missense_variant,p.Tyr287His,ENST00000449677,;UNC5D,missense_variant,p.Tyr706His,ENST00000453357,;UNC5D,missense_variant,p.Tyr716His,ENST00000416672,;UNC5D,missense_variant,p.Tyr711His,ENST00000404895,;UNC5D,missense_variant,p.Tyr642His,ENST00000287272,;UNC5D,missense_variant,p.Tyr644His,ENST00000420357,;	2459	207	258	SUCCESS
RUNX1T1	862	.	GRCh37	8	93026974	93026974	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	6	66	0	ENST00000265814.3:c.301C>T	p.Pro101Ser	p.P101S	ENST00000265814	NM_001198628.1	101	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS56544.1	334	MUTECT|MUSE	.	GGAAGGCCCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	3/11	.	.	.	.	.	.	.	.	COSM1624293,COSM1624292,COSM1624291	3/11	nonpreferredpair	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.947)	.	deleterious(0.04)	1,1,1	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Pro101Ser,ENST00000523168,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000517792,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000520583,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000522467,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000422361,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000521319,;RUNX1T1,missense_variant,p.Pro112Ser,ENST00000436581,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000360348,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000521553,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000518823,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000521733,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000518844,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000523629,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000520724,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000517919,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000519847,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000518992,;RUNX1T1,missense_variant,p.Pro101Ser,ENST00000265814,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000521054,;RUNX1T1,missense_variant,p.Pro64Ser,ENST00000520556,;RUNX1T1,missense_variant,p.Pro74Ser,ENST00000396218,;RUNX1T1,downstream_gene_variant,,ENST00000518317,;RUNX1T1,downstream_gene_variant,,ENST00000518832,;RUNX1T1,downstream_gene_variant,,ENST00000518954,;RUNX1T1,downstream_gene_variant,,ENST00000519061,;RUNX1T1,downstream_gene_variant,,ENST00000520974,;RUNX1T1,downstream_gene_variant,,ENST00000520428,;RUNX1T1,downstream_gene_variant,,ENST00000521375,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,downstream_gene_variant,,ENST00000520172,;RUNX1T1,downstream_gene_variant,,ENST00000522860,;RUNX1T1,downstream_gene_variant,,ENST00000522065,;RUNX1T1,downstream_gene_variant,,ENST00000522163,;RUNX1T1,downstream_gene_variant,,ENST00000518256,;RUNX1T1,3_prime_UTR_variant,,ENST00000519577,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000517493,;RUNX1T1,downstream_gene_variant,,ENST00000521897,;RUNX1T1,downstream_gene_variant,,ENST00000519422,;RUNX1T1,downstream_gene_variant,,ENST00000524215,;RUNX1T1,downstream_gene_variant,,ENST00000521902,;	345	66	99	SUCCESS
RNF20	56254	.	GRCh37	9	104303192	104303192	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	5	116	0	ENST00000389120.3:c.563T>C	p.Ile188Thr	p.I188T	ENST00000389120	NM_019592.6	188	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS35084.1	563	MUTECT|MUSE	.	CCAGATTGTGA	NONE	.	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163	.	.	ENSP00000373772	.	5/20	.	.	.	.	.	.	.	.	.	5/20	nonpreferredpair	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	deleterious(0.01)	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,missense_variant,p.Ile188Thr,ENST00000389120,;RNF20,downstream_gene_variant,,ENST00000479306,;RNF20,downstream_gene_variant,,ENST00000466817,;RNF20,downstream_gene_variant,,ENST00000374819,;RNF20,downstream_gene_variant,,ENST00000481046,;	653	116	118	SUCCESS
FRMPD3	84443	.	GRCh37	X	106845477	106845477	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754702456	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	76	0	ENST00000276185.4:c.4307G>A	p.Gly1436Asp	p.G1436D	ENST00000276185		1436	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	.	4307	MUTECT|MUSE	.	CCAGGGTGACA	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6	.	.	ENSP00000276185	.	16/16	.	.	.	.	.	.	.	.	rs754702456	16/16	nonpreferredpair	ENST00000276185	Transcript	.	.	ENSG00000147234	29382	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.09)	.	FRPD3_HUMAN	FRMPD3	HGNC	.	.	UPI00006C1C33	SNV	FRMPD3,missense_variant,p.Gly1436Asp,ENST00000276185,;FRMPD3,missense_variant,p.Gly1384Asp,ENST00000439554,;	4307	76	91	SUCCESS
DCAF12L2	340578	.	GRCh37	X	125298989	125298989	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	24	149	1	ENST00000360028.2:c.919C>T	p.Arg307Ter	p.R307*	ENST00000360028		307	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS43991.1	919	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGGCAGT	NONE	.	.	hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000441489	.	2/2	.	.	.	.	.	.	.	.	COSM610563,COSM1203049,COSM610562,COSM1203048	2/2	nonpreferredpair	ENST00000538699	Transcript	.	.	ENSG00000198354	32950	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	.	.	.	1,1,1,1	DC122_HUMAN	DCAF12L2	HGNC	.	.	UPI0000197594	SNV	DCAF12L2,stop_gained,p.Arg307Ter,ENST00000538699,;DCAF12L2,stop_gained,p.Arg307Ter,ENST00000360028,;	1000	150	163	SUCCESS
ATP11C	286410	.	GRCh37	X	138878508	138878508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	25	117	0	ENST00000327569.3:c.1139A>T	p.Asp380Val	p.D380V	ENST00000327569	NM_173694.4	380	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS14668.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATCCCAT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF38,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000332756	.	12/30	.	.	.	.	.	.	.	.	.	12/30	nonpreferredpair	ENST00000327569	Transcript	.	.	ENSG00000101974	13554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT11C_HUMAN	ATP11C	HGNC	.	.	UPI000036777E	SNV	ATP11C,missense_variant,p.Asp380Val,ENST00000370543,;ATP11C,missense_variant,p.Asp380Val,ENST00000361648,;ATP11C,missense_variant,p.Asp380Val,ENST00000327569,;ATP11C,missense_variant,p.Asp377Val,ENST00000370557,;ATP11C,missense_variant,p.Asp380Val,ENST00000359686,;ATP11C,non_coding_transcript_exon_variant,,ENST00000460773,;	1238	117	133	SUCCESS
P2RY4	5030	.	GRCh37	X	69479048	69479048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	11	96	0	ENST00000374519.2:c.427G>T	p.Ala143Ser	p.A143S	ENST00000374519	NM_002565.3	143	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14398.1	427	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGCCCGAA	NONE	.	.	Prints_domain:PR01066,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24231:SF21,hmmpanther:PTHR24231,PROSITE_profiles:PS50262	.	.	ENSP00000363643	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000374519	Transcript	.	.	ENSG00000186912	8542	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(1)	.	P2RY4_HUMAN	P2RY4	HGNC	C6G7W3_HUMAN	.	UPI000002E776	SNV	P2RY4,missense_variant,p.Ala143Ser,ENST00000374519,;	607	96	108	SUCCESS
KDM5D	8284	.	GRCh37	Y	21901515	21901515	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	67	0	ENST00000317961.4:c.556A>G	p.Lys186Glu	p.K186E	ENST00000317961	NM_004653.4	186	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS14794.1	556	MUTECT|MUSE	.	ATCTTTTACCT	NONE	.	.	hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF31	.	.	ENSP00000322408	.	6/27	.	.	.	.	.	.	.	.	.	6/27	nonpreferredpair	ENST00000317961	Transcript	.	.	ENSG00000012817	11115	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	deleterious(0.04)	.	KDM5D_HUMAN	KDM5D	HGNC	.	.	UPI0000135A93	SNV	KDM5D,missense_variant,p.Lys129Glu,ENST00000382806,;KDM5D,missense_variant,p.Lys145Glu,ENST00000440077,;KDM5D,missense_variant,p.Lys186Glu,ENST00000317961,;KDM5D,missense_variant,p.Lys186Glu,ENST00000541639,;KDM5D,intron_variant,,ENST00000447300,;	828	67	98	SUCCESS
CACNB2	783	.	GRCh37	10	18689927	18689927	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	79	1	ENST00000324631.7:c.214-926T>A		p.*72*	ENST00000324631	NM_201593.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7125.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGCAGC	NONE	.	.	.	.	.	ENSP00000320025	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324631	Transcript	1	.	ENSG00000165995	1402	.	.	MODIFIER	2/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CACB2_HUMAN	CACNB2	HGNC	.	.	UPI00001AEA80	SNV	CACNB2,5_prime_UTR_variant,,ENST00000377315,;CACNB2,intron_variant,,ENST00000377328,;CACNB2,intron_variant,,ENST00000396576,;CACNB2,intron_variant,,ENST00000377329,;CACNB2,intron_variant,,ENST00000324631,;CACNB2,intron_variant,,ENST00000282343,;CACNB2,intron_variant,,ENST00000377331,;CACNB2,intron_variant,,ENST00000352115,;CACNB2,intron_variant,,ENST00000377319,;CACNB2,intron_variant,,ENST00000498816,;	.	80	61	SUCCESS
ANKRD26	22852	.	GRCh37	10	27356183	27356183	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	41	0	ENST00000376087.4:c.1110A>G	p.Lys370=	p.K370=	ENST00000376087	NM_014915.2	370	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS41499.1	1110	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTTTTT	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	10/34	.	.	.	.	.	.	.	.	.	10/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,synonymous_variant,p.%3D,ENST00000376087,;ANKRD26,synonymous_variant,p.%3D,ENST00000436985,;ANKRD26,non_coding_transcript_exon_variant,,ENST00000473304,;	1276	41	25	SUCCESS
ITGB1	3688	.	GRCh37	10	33217025	33217025	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	58	0	ENST00000302278.3:c.544A>C	p.Ile182Leu	p.I182L	ENST00000302278	NM_002211.3	182	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS7174.1	544	MUTECT|MUSE	.	ACCAATTCTGA	NONE	.	.	Prints_domain:PR01186,Superfamily_domains:SSF53300,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Pfam_domain:PF00362,Gene3D:3.40.50.410,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28	.	.	ENSP00000379350	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000396033	Transcript	.	.	ENSG00000150093	6153	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.26)	.	deleterious(0)	.	ITB1_HUMAN	ITGB1	HGNC	Q5T3E6_HUMAN,Q5T3E5_HUMAN,Q5T3E4_HUMAN,E9PQJ2_HUMAN,E9PLR6_HUMAN,E7ERX5_HUMAN,E7EQW5_HUMAN,C9JPK5_HUMAN,C9JJP8_HUMAN	.	UPI0000070EEB	SNV	ITGB1,missense_variant,p.Ile182Leu,ENST00000396033,;ITGB1,missense_variant,p.Ile182Leu,ENST00000374956,;ITGB1,missense_variant,p.Ile182Leu,ENST00000302278,;ITGB1,missense_variant,p.Ile182Leu,ENST00000423113,;ITGB1,downstream_gene_variant,,ENST00000437302,;ITGB1,downstream_gene_variant,,ENST00000475184,;ITGB1,downstream_gene_variant,,ENST00000534049,;ITGB1,downstream_gene_variant,,ENST00000414670,;ITGB1,downstream_gene_variant,,ENST00000528877,;ITGB1,downstream_gene_variant,,ENST00000488494,;ITGB1,downstream_gene_variant,,ENST00000493758,;ITGB1,downstream_gene_variant,,ENST00000472147,;ITGB1,downstream_gene_variant,,ENST00000417122,;ITGB1,downstream_gene_variant,,ENST00000474568,;ITGB1,downstream_gene_variant,,ENST00000480226,;ITGB1,intron_variant,,ENST00000484088,;ITGB1,downstream_gene_variant,,ENST00000464001,;	680	58	48	SUCCESS
PCDH15	65217	.	GRCh37	10	55581783	55581783	+	synonymous_variant	Silent	SNP	A	A	G	rs1265145868	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	90	0	ENST00000320301.6:c.5703T>C	p.Ser1901=	p.S1901=	ENST00000320301	NM_033056.3	1901	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS44404.1	5709	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGACTGTA	NONE	.	.	.	.	.	ENSP00000354950	.	34/34	.	.	.	.	.	.	.	.	COSM1729620,COSM1729621	34/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000373957,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	6104	90	65	SUCCESS
LDB3	11155	.	GRCh37	10	88452294	88452294	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	112	0	ENST00000361373.4:c.862C>A	p.Gln288Lys	p.Q288K	ENST00000361373	NM_007078.2	288	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS53550.1	1066	MUTECT|MUSE	.	CAGTGCAAGAC	NONE	.	.	hmmpanther:PTHR24214:SF9,hmmpanther:PTHR24214	.	.	ENSP00000401437	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.358)	.	tolerated(0.08)	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,missense_variant,p.Gln356Lys,ENST00000372056,;LDB3,missense_variant,p.Gln241Lys,ENST00000372066,;LDB3,missense_variant,p.Gln288Lys,ENST00000361373,;LDB3,missense_variant,p.Gln241Lys,ENST00000458213,;LDB3,missense_variant,p.Gln288Lys,ENST00000310944,;LDB3,missense_variant,p.Gln356Lys,ENST00000429277,;LDB3,missense_variant,p.Gln241Lys,ENST00000263066,;LDB3,splice_region_variant,,ENST00000542786,;LDB3,intron_variant,,ENST00000352360,;	1211	112	121	SUCCESS
EXT2	2132	.	GRCh37	11	44255728	44255728	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772217310	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	29	148	0	ENST00000343631.3:c.1870A>G	p.Met624Val	p.M624V	ENST00000343631		624	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS53618.1	1969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATATGAAC	NONE	byFrequency	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF09258,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF6	.	.	ENSP00000379032	.	12/14	.	.	.	.	.	.	.	.	rs772217310	12/14	PASS	ENST00000395673	Transcript	.	.	ENSG00000151348	3513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	deleterious(0.02)	.	EXT2_HUMAN	EXT2	HGNC	E9PNL9_HUMAN,E9PJA5_HUMAN	.	UPI0000EE3A5C	SNV	EXT2,missense_variant,p.Met634Val,ENST00000358681,;EXT2,missense_variant,p.Met624Val,ENST00000533608,;EXT2,missense_variant,p.Met657Val,ENST00000395673,;EXT2,missense_variant,p.Met624Val,ENST00000343631,;EXT2,non_coding_transcript_exon_variant,,ENST00000528159,;EXT2,downstream_gene_variant,,ENST00000531161,;	2025	148	177	SUCCESS
ALX4	60529	.	GRCh37	11	44289129	44289129	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368050443	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	28	94	0	ENST00000329255.3:c.821G>A	p.Arg274His	p.R274H	ENST00000329255	NM_021926.3	274	cGt/cAt	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS31468.1	821	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAACGCTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF285,Gene3D:1.10.10.60,SMART_domains:SM00389	.	T:0.0001	ENSP00000332744	.	3/4	.	.	.	.	.	.	.	.	rs368050443,COSM688131	3/4	PASS	ENST00000329255	Transcript	.	.	ENSG00000052850	450	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.98)	.	deleterious(0)	0,1	ALX4_HUMAN	ALX4	HGNC	.	.	UPI000016A402	SNV	ALX4,missense_variant,p.Arg274His,ENST00000329255,;	925	94	181	SUCCESS
NR1H3	10062	.	GRCh37	11	47282864	47282864	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	26	144	0	ENST00000441012.2:c.572C>T	p.Ser191Phe	p.S191F	ENST00000441012	NM_005693.3	191	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS7929.1	572	RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCTTGC	NONE	.	.	hmmpanther:PTHR24082:SF259,hmmpanther:PTHR24082,Gene3D:1.10.565.10	.	.	ENSP00000420656	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000467728	Transcript	.	.	ENSG00000025434	7966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.121)	.	deleterious(0.01)	.	NR1H3_HUMAN	NR1H3	HGNC	F1D8N1_HUMAN,C9JTS4_HUMAN,C9JJ16_HUMAN,C9JEC2_HUMAN,C9JCS0_HUMAN,C9JBS2_HUMAN,C9J4R0_HUMAN,C9J2C8_HUMAN	.	UPI000013050C	SNV	NR1H3,missense_variant,p.Ser191Phe,ENST00000436029,;NR1H3,missense_variant,p.Ser146Phe,ENST00000395397,;NR1H3,missense_variant,p.Ser191Phe,ENST00000441012,;NR1H3,missense_variant,p.Ser191Phe,ENST00000449369,;NR1H3,missense_variant,p.Ser191Phe,ENST00000407404,;NR1H3,missense_variant,p.Ser191Phe,ENST00000467728,;NR1H3,missense_variant,p.Ser57Phe,ENST00000531660,;NR1H3,missense_variant,p.Ser100Phe,ENST00000527949,;NR1H3,missense_variant,p.Ser146Phe,ENST00000405576,;NR1H3,missense_variant,p.Ser191Phe,ENST00000444396,;NR1H3,missense_variant,p.Ser146Phe,ENST00000481889,;NR1H3,missense_variant,p.Ser191Phe,ENST00000436778,;NR1H3,missense_variant,p.Ser191Phe,ENST00000405853,;NR1H3,downstream_gene_variant,,ENST00000437276,;NR1H3,downstream_gene_variant,,ENST00000457932,;NR1H3,downstream_gene_variant,,ENST00000412937,;NR1H3,non_coding_transcript_exon_variant,,ENST00000525441,;NR1H3,non_coding_transcript_exon_variant,,ENST00000527464,;NR1H3,non_coding_transcript_exon_variant,,ENST00000529540,;NR1H3,intron_variant,,ENST00000532630,;NR1H3,downstream_gene_variant,,ENST00000495866,;NR1H3,downstream_gene_variant,,ENST00000461778,;NR1H3,downstream_gene_variant,,ENST00000530310,;NR1H3,downstream_gene_variant,,ENST00000473222,;NR1H3,downstream_gene_variant,,ENST00000476086,;NR1H3,3_prime_UTR_variant,,ENST00000420369,;NR1H3,non_coding_transcript_exon_variant,,ENST00000481020,;NR1H3,non_coding_transcript_exon_variant,,ENST00000487913,;NR1H3,downstream_gene_variant,,ENST00000486991,;NR1H3,downstream_gene_variant,,ENST00000498548,;NR1H3,downstream_gene_variant,,ENST00000419652,;NR1H3,downstream_gene_variant,,ENST00000483882,;	1810	144	185	SUCCESS
GLYATL2	219970	.	GRCh37	11	58602018	58602018	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	67	0	ENST00000287275.1:c.769T>G	p.Tyr257Asp	p.Y257D	ENST00000287275	NM_145016.3	257	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS41649.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATAAAATG	NONE	.	.	hmmpanther:PTHR15298:SF4,hmmpanther:PTHR15298,Pfam_domain:PF08444,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000287275	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000287275	Transcript	.	.	ENSG00000156689	24178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	GLYL2_HUMAN	GLYATL2	HGNC	.	.	UPI000003FFB7	SNV	GLYATL2,missense_variant,p.Tyr257Asp,ENST00000532258,;GLYATL2,missense_variant,p.Tyr257Asp,ENST00000287275,;GLYATL2,downstream_gene_variant,,ENST00000533636,;	1160	68	67	SUCCESS
PLA2G16	0	.	GRCh37	11	63365558	63365558	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	42	245	0	ENST00000323646.5:c.93A>G	p.Gly31=	p.G31=	ENST00000323646	NM_007069.3	31	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8047.1	93	RADIA|MUTECT|MUSE|VARSCANS	.	ACATATCCATC	NONE	.	.	hmmpanther:PTHR13943:SF33,hmmpanther:PTHR13943,Pfam_domain:PF04970	.	.	ENSP00000320337	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000323646	Transcript	.	.	ENSG00000176485	17825	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HRSL3_HUMAN	PLA2G16	HGNC	F5H7E5_HUMAN	.	UPI000012CBE4	SNV	PLA2G16,synonymous_variant,p.%3D,ENST00000323646,;PLA2G16,synonymous_variant,p.%3D,ENST00000415826,;PLA2G16,intron_variant,,ENST00000540943,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000544269,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;	448	245	247	SUCCESS
DCHS1	8642	.	GRCh37	11	6643111	6643111	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	13	92	0	ENST00000299441.3:c.9796C>T	p.Pro3266Ser	p.P3266S	ENST00000299441	NM_003737.2	3266	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7771.1	9796	RADIA|MUTECT|MUSE|VARSCANS	.	AACGGGTGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Pro3266Ser,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,non_coding_transcript_exon_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	10208	92	113	SUCCESS
DAO	1610	.	GRCh37	12	109283310	109283310	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	89	0	ENST00000228476.3:c.375C>A	p.Phe125Leu	p.F125L	ENST00000228476	NM_001917.4	125	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS9122.1	375	MUTECT|MUSE|VARSCANS	.	ATGTTCCCAGA	BUFFER|p.G129C|c.385G>T|3	.	.	hmmpanther:PTHR11530:SF5,hmmpanther:PTHR11530,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,Superfamily_domains:SSF51971	.	.	ENSP00000228476	.	4/11	.	.	.	.	.	.	.	.	COSM1510773	4/11	PASS	ENST00000228476	Transcript	.	.	ENSG00000110887	2671	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.833)	.	deleterious(0)	1	OXDA_HUMAN	DAO	HGNC	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN	.	UPI0000130F5F	SNV	DAO,missense_variant,p.Phe125Leu,ENST00000547166,;DAO,missense_variant,p.Phe2Leu,ENST00000547768,;DAO,missense_variant,p.Phe125Leu,ENST00000228476,;DAO,intron_variant,,ENST00000551281,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,intron_variant,,ENST00000549215,;	579	89	104	SUCCESS
RASAL1	8437	.	GRCh37	12	113573290	113573290	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	29	153	0	ENST00000261729.5:c.-23T>A		p.*8*	ENST00000261729				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55889.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAGGCAG	NONE	.	.	.	.	.	ENSP00000450244	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000546530	Transcript	.	.	ENSG00000111344	9873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASL1_HUMAN	RASAL1	HGNC	.	.	UPI0001DD37FE	SNV	RASAL1,5_prime_UTR_variant,,ENST00000261729,;RASAL1,5_prime_UTR_variant,,ENST00000548055,;RASAL1,5_prime_UTR_variant,,ENST00000446861,;RASAL1,5_prime_UTR_variant,,ENST00000546530,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;	264	153	187	SUCCESS
WDR66	0	.	GRCh37	12	122396358	122396358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	15	101	0	ENST00000288912.4:c.1911C>A	p.Asn637Lys	p.N637K	ENST00000288912	NM_144668.5	637	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS41853.1	1911	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACAAACA	BUFFER|p.L641I|c.1921C>A|3	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000288912	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000288912	Transcript	.	.	ENSG00000158023	28506	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	WDR66_HUMAN	WDR66	HGNC	.	.	UPI00001AEB2C	SNV	WDR66,missense_variant,p.Asn637Lys,ENST00000397454,;WDR66,missense_variant,p.Asn637Lys,ENST00000288912,;WDR66,upstream_gene_variant,,ENST00000545752,;WDR66,non_coding_transcript_exon_variant,,ENST00000543211,;WDR66,non_coding_transcript_exon_variant,,ENST00000535257,;	2765	101	127	SUCCESS
DNAH10	196385	.	GRCh37	12	124402197	124402197	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	23	97	0	ENST00000409039.3:c.10715A>G	p.Glu3572Gly	p.E3572G	ENST00000409039	NM_207437.3	3572	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9255.2	10715	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000386770	.	63/78	.	.	.	.	.	.	.	.	.	63/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Glu3572Gly,ENST00000409039,;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,downstream_gene_variant,,ENST00000542348,;	10740	97	143	SUCCESS
FBRSL1	57666	.	GRCh37	12	133102386	133102386	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	23	128	0	ENST00000434748.2:c.556A>T	p.Ser186Cys	p.S186C	ENST00000434748	NM_001142641.1	186	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45010.1	556	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAGCTCC	NONE	.	.	hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF20	.	.	ENSP00000396160	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000434748	Transcript	.	.	ENSG00000112787	29308	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	FBSL_HUMAN	FBRSL1	HGNC	.	.	UPI00018830C3	SNV	FBRSL1,missense_variant,p.Ser113Cys,ENST00000261673,;FBRSL1,missense_variant,p.Ser186Cys,ENST00000434748,;	1576	128	155	SUCCESS
WNT1	7471	.	GRCh37	12	49374980	49374980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	24	166	0	ENST00000293549.3:c.670T>C	p.Ser224Pro	p.S224P	ENST00000293549	NM_005430.3	224	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS8776.1	670	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTCCGGC	NONE	.	.	hmmpanther:PTHR12027:SF80,hmmpanther:PTHR12027,PROSITE_patterns:PS00246,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000293549	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000293549	Transcript	.	.	ENSG00000125084	12774	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WNT1_HUMAN	WNT1	HGNC	.	.	UPI0000051043	SNV	WNT1,missense_variant,p.Ser224Pro,ENST00000293549,;	706	166	207	SUCCESS
OR6C68	403284	.	GRCh37	12	55886941	55886941	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	98	0	ENST00000548615.1:c.780A>G	p.Pro260=	p.P260=	ENST00000548615	NM_001005519.2	260	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS31826.2	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCATCTGC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF19,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	.	.	ENSP00000448811	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000548615	Transcript	.	.	ENSG00000205327	31297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O6C68_HUMAN	OR6C68	HGNC	.	.	UPI00015E1642	SNV	OR6C68,synonymous_variant,p.%3D,ENST00000548615,;OR6C68,synonymous_variant,p.%3D,ENST00000379662,;RP11-110A12.2,splice_region_variant,,ENST00000556750,;RP11-110A12.2,splice_region_variant,,ENST00000555138,;RP11-110A12.2,non_coding_transcript_exon_variant,,ENST00000554049,;	780	98	71	SUCCESS
OR6C4	341418	.	GRCh37	12	55945800	55945800	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	91	0	ENST00000394256.2:c.790G>T	p.Glu264Ter	p.E264*	ENST00000394256	NM_001005494.1	264	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31827.1	790	MUTECT|MUSE	.	CAAAAGAAGGA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	.	.	ENSP00000377799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394256	Transcript	.	.	ENSG00000179626	19632	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR6C4_HUMAN	OR6C4	HGNC	.	.	UPI000004A282	SNV	OR6C4,stop_gained,p.Glu264Ter,ENST00000394256,;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	818	91	76	SUCCESS
DCTN2	10540	.	GRCh37	12	57929270	57929270	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	72	0	ENST00000548249.1:c.261G>T	p.Glu87Asp	p.E87D	ENST00000548249	NM_001261412.1	87	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS44930.1	276	RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCTCATA	NONE	.	.	hmmpanther:PTHR15346,hmmpanther:PTHR15346:SF0,Pfam_domain:PF04912	.	.	ENSP00000408910	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000434715	Transcript	.	.	ENSG00000175203	2712	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	DCTN2_HUMAN	DCTN2	HGNC	A8K8J9_HUMAN	.	UPI000004EFD1	SNV	DCTN2,missense_variant,p.Glu92Asp,ENST00000543672,;DCTN2,missense_variant,p.Glu87Asp,ENST00000548249,;DCTN2,missense_variant,p.Glu101Asp,ENST00000550954,;DCTN2,missense_variant,p.Glu52Asp,ENST00000550086,;DCTN2,missense_variant,p.Glu64Asp,ENST00000550750,;DCTN2,missense_variant,p.Glu64Asp,ENST00000537439,;DCTN2,missense_variant,p.Glu87Asp,ENST00000546670,;DCTN2,missense_variant,p.Glu92Asp,ENST00000434715,;DCTN2,upstream_gene_variant,,ENST00000546758,;DCTN2,non_coding_transcript_exon_variant,,ENST00000548949,;DCTN2,non_coding_transcript_exon_variant,,ENST00000551400,;DCTN2,non_coding_transcript_exon_variant,,ENST00000546965,;DCTN2,intron_variant,,ENST00000551611,;DCTN2,missense_variant,p.Glu87Asp,ENST00000550201,;DCTN2,3_prime_UTR_variant,,ENST00000549394,;DCTN2,non_coding_transcript_exon_variant,,ENST00000547345,;DCTN2,non_coding_transcript_exon_variant,,ENST00000551142,;DCTN2,non_coding_transcript_exon_variant,,ENST00000550576,;DCTN2,upstream_gene_variant,,ENST00000551872,;DCTN2,upstream_gene_variant,,ENST00000552390,;DCTN2,upstream_gene_variant,,ENST00000548736,;DCTN2,upstream_gene_variant,,ENST00000550988,;DCTN2,downstream_gene_variant,,ENST00000547480,;	354	72	77	SUCCESS
AGAP2-AS1	100130776	.	GRCh37	12	58121178	58121178	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	25	96	1	ENST00000542466.2:c.403C>G	p.Arg135Gly	p.R135G	ENST00000542466		135	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	.	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGCGTGTC	NONE	.	.	.	.	.	ENSP00000437523	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000542466	Transcript	.	.	ENSG00000255737	48633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	.	.	.	AGAP2-AS1	HGNC	B7Z718_HUMAN	.	UPI000021D228	SNV	AGAP2-AS1,missense_variant,p.Arg135Gly,ENST00000542466,;AGAP2,synonymous_variant,p.%3D,ENST00000257897,;AGAP2,synonymous_variant,p.%3D,ENST00000328568,;AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2,downstream_gene_variant,,ENST00000549129,;RP11-571M6.8,upstream_gene_variant,,ENST00000548410,;RP11-571M6.8,upstream_gene_variant,,ENST00000602413,;	539	97	128	SUCCESS
TSPAN31	6302	.	GRCh37	12	58141073	58141073	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	51	0	ENST00000257910.3:c.633A>G	p.Ter211TrpextTer6	p.*211Wext*6	ENST00000257910	NM_005981.3	211	tgA/tgG	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS8952.1	633	RADIA|MUTECT|MUSE|VARSCANS	.	CTATGAGACTT	NONE	.	.	.	.	.	ENSP00000257910	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000257910	Transcript	.	.	ENSG00000135452	10539	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSN31_HUMAN	TSPAN31	HGNC	F8VW54_HUMAN,F8VVF8_HUMAN,B4DFJ7_HUMAN	.	UPI000013557C	SNV	TSPAN31,stop_lost,p.Ter128TrpextTer?,ENST00000547472,;TSPAN31,stop_lost,p.Ter127TrpextTer6,ENST00000547992,;TSPAN31,stop_lost,p.Ter211TrpextTer6,ENST00000257910,;CDK4,downstream_gene_variant,,ENST00000547853,;CDK4,downstream_gene_variant,,ENST00000552254,;CDK4,downstream_gene_variant,,ENST00000547281,;CDK4,downstream_gene_variant,,ENST00000552862,;CDK4,downstream_gene_variant,,ENST00000551800,;TSPAN31,downstream_gene_variant,,ENST00000552816,;CDK4,downstream_gene_variant,,ENST00000540325,;TSPAN31,downstream_gene_variant,,ENST00000548167,;CDK4,downstream_gene_variant,,ENST00000546489,;CDK4,downstream_gene_variant,,ENST00000549606,;CDK4,downstream_gene_variant,,ENST00000312990,;CDK4,downstream_gene_variant,,ENST00000257904,;CDK4,downstream_gene_variant,,ENST00000552388,;TSPAN31,downstream_gene_variant,,ENST00000548093,;TSPAN31,downstream_gene_variant,,ENST00000547311,;TSPAN31,downstream_gene_variant,,ENST00000550528,;TSPAN31,downstream_gene_variant,,ENST00000553221,;CDK4,downstream_gene_variant,,ENST00000551888,;TSPAN31,3_prime_UTR_variant,,ENST00000549052,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000550791,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000546993,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000546922,;CDK4,downstream_gene_variant,,ENST00000552713,;CDK4,downstream_gene_variant,,ENST00000550419,;CDK4,downstream_gene_variant,,ENST00000553237,;TSPAN31,downstream_gene_variant,,ENST00000553089,;CDK4,downstream_gene_variant,,ENST00000551706,;	907	51	62	SUCCESS
SPSB2	84727	.	GRCh37	12	6981244	6981244	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	19	98	0	ENST00000523102.1:c.664+158A>G		p.*222*	ENST00000523102	NM_001146316.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8567.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAATAACAG	NONE	.	.	.	.	.	ENSP00000428338	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000524270	Transcript	.	.	ENSG00000111671	29522	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPSB2_HUMAN	SPSB2	HGNC	E5RIC2_HUMAN	.	UPI000003316E	SNV	SPSB2,3_prime_UTR_variant,,ENST00000519357,;SPSB2,intron_variant,,ENST00000523102,;SPSB2,intron_variant,,ENST00000524270,;SPSB2,downstream_gene_variant,,ENST00000432205,;TPI1,downstream_gene_variant,,ENST00000396705,;TPI1,downstream_gene_variant,,ENST00000488464,;TPI1,downstream_gene_variant,,ENST00000495834,;LRRC23,upstream_gene_variant,,ENST00000433346,;TPI1,downstream_gene_variant,,ENST00000493987,;TPI1,downstream_gene_variant,,ENST00000229270,;TPI1,downstream_gene_variant,,ENST00000535434,;TPI1,downstream_gene_variant,,ENST00000462761,;LRRC23,upstream_gene_variant,,ENST00000449039,;RPL13P5,upstream_gene_variant,,ENST00000421824,;SPSB2,downstream_gene_variant,,ENST00000437851,;RPL13P5,upstream_gene_variant,,ENST00000412023,;RPL13P5,upstream_gene_variant,,ENST00000274820,;RPL13P5,upstream_gene_variant,,ENST00000451612,;TPI1,downstream_gene_variant,,ENST00000482209,;TPI1,downstream_gene_variant,,ENST00000474253,;	.	98	127	SUCCESS
KCNC2	3747	.	GRCh37	12	75601331	75601331	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	282	11	210	0	ENST00000549446.1:c.433G>A	p.Glu145Lys	p.E145K	ENST00000549446	NM_001260497.1	145	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9007.1	433	MUTECT|MUSE	.	GGTCTCGTCGA	NONE	.	.	Prints_domain:PR01498,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	.	.	ENSP00000449253	.	2/5	.	.	.	.	.	.	.	.	COSM3872507,COSM3872506,COSM3872505	2/5	PASS	ENST00000549446	Transcript	.	.	ENSG00000166006	6234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.969)	.	deleterious(0.02)	1,1,1	KCNC2_HUMAN	KCNC2	HGNC	.	.	UPI000004DB9B	SNV	KCNC2,missense_variant,p.Glu145Lys,ENST00000341669,;KCNC2,missense_variant,p.Glu145Lys,ENST00000393288,;KCNC2,missense_variant,p.Glu145Lys,ENST00000540018,;KCNC2,missense_variant,p.Glu145Lys,ENST00000548513,;KCNC2,missense_variant,p.Glu145Lys,ENST00000550433,;KCNC2,missense_variant,p.Glu145Lys,ENST00000298972,;KCNC2,missense_variant,p.Glu145Lys,ENST00000549446,;KCNC2,missense_variant,p.Glu145Lys,ENST00000350228,;	1114	210	293	SUCCESS
NAV3	89795	.	GRCh37	12	78452777	78452777	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	53	1	ENST00000397909.2:c.2518T>C	p.Tyr840His	p.Y840H	ENST00000397909	NM_001024383.1	840	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS41815.1	2518	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TCAGGTACATG	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	12/39	.	.	.	.	.	.	.	.	.	12/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.398)	.	deleterious(0.01)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Tyr840His,ENST00000536525,;NAV3,missense_variant,p.Tyr840His,ENST00000397909,;NAV3,missense_variant,p.Tyr840His,ENST00000266692,;NAV3,missense_variant,p.Tyr840His,ENST00000228327,;RP11-136F16.1,intron_variant,,ENST00000549103,;	2691	54	53	SUCCESS
C12orf74	0	.	GRCh37	12	93100546	93100546	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	12	96	0	ENST00000397833.3:c.139A>T	p.Thr47Ser	p.T47S	ENST00000397833	NM_001178097.2	47	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS41819.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCACCTCG	NONE	.	.	.	.	.	ENSP00000380933	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000397833	Transcript	.	.	ENSG00000214215	27887	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.929)	.	deleterious(0.01)	.	CL074_HUMAN	C12orf74	HGNC	.	.	UPI00005DB386	SNV	C12orf74,missense_variant,p.Thr47Ser,ENST00000397833,;C12orf74,missense_variant,p.Thr47Ser,ENST00000544406,;	590	96	96	SUCCESS
SLITRK5	26050	.	GRCh37	13	88328465	88328465	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755524884	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	16	86	0	ENST00000325089.6:c.822C>A	p.Asp274Glu	p.D274E	ENST00000325089	NM_015567.1	274	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9465.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGACTTGGA	NONE	byFrequency	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	rs755524884	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Asp274Glu,ENST00000325089,;SLITRK5,missense_variant,p.Asp33Glu,ENST00000400028,;MIR4500HG,upstream_gene_variant,,ENST00000441617,;	1041	86	110	SUCCESS
LRFN5	145581	.	GRCh37	14	42356745	42356745	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	119	0	ENST00000298119.4:c.917T>C	p.Leu306Pro	p.L306P	ENST00000298119	NM_152447.3	306	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9678.1	917	RADIA|MUTECT|MUSE|VARSCANS	.	AACACTGAGGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS50835	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	COSM955710	3/6	PASS	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Leu306Pro,ENST00000298119,;LRFN5,missense_variant,p.Leu306Pro,ENST00000554120,;LRFN5,missense_variant,p.Leu306Pro,ENST00000554171,;	2106	119	107	SUCCESS
YLPM1	56252	.	GRCh37	14	75245225	75245225	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs376895690	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	39	214	0	ENST00000325680.7:c.949A>G	p.Lys317Glu	p.K317E	ENST00000325680	NM_019589.2	317	Aaa/Gaa	0	G:0.0003	.	.	.	.	G	K/E	protein_coding	YES	CCDS45135.1	949	RADIA|MUTECT|MUSE|VARSCANS	.	GACACAAAAAG	NONE	byCluster	.	hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413	.	G:0	ENSP00000324463	.	2/21	.	.	.	.	.	.	.	.	rs376895690	2/21	PASS	ENST00000325680	Transcript	.	.	ENSG00000119596	17798	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	YLPM1_HUMAN	YLPM1	HGNC	B4DMQ9_HUMAN	.	UPI00006C1433	SNV	YLPM1,missense_variant,p.Lys317Glu,ENST00000325680,;YLPM1,missense_variant,p.Lys317Glu,ENST00000238571,;YLPM1,missense_variant,p.Lys317Glu,ENST00000552421,;YLPM1,upstream_gene_variant,,ENST00000549293,;	1073	214	209	SUCCESS
NEK9	91754	.	GRCh37	14	75567691	75567697	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCACCAT	TCACCAT	CAG	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	TCACCAT	TCACCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	77	0	ENST00000238616.5:c.2000_2002+4delinsCTG		p.X667_splice	ENST00000238616	NM_033116.4	667		0	.	.	.	.	.	CAG	.	protein_coding	YES	CCDS9839.1	2000-?	VARSCANI*|PINDEL|VARSCANS*	.	ACAGACTCACCATCAGTG	NONE	.	.	.	.	.	ENSP00000238616	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	HIGH	16/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	substitution	NEK9,splice_donor_variant,,ENST00000238616,;NEK9,splice_donor_variant,,ENST00000557026,;NEK9,splice_donor_variant,,ENST00000556170,;NEK9,splice_donor_variant,,ENST00000555537,;	2159-?	77	57	SUCCESS
PSMC1	5700	.	GRCh37	14	90730490	90730490	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	84	0	ENST00000261303.8:c.571G>A	p.Asp191Asn	p.D191N	ENST00000261303	NM_002802.2	191	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS32139.1	571	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGGACAAC	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,hmmpanther:PTHR23073:SF9,hmmpanther:PTHR23073	.	.	ENSP00000261303	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000261303	Transcript	.	.	ENSG00000100764	9547	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.694)	.	deleterious(0.01)	.	PRS4_HUMAN	PSMC1	HGNC	Q53XL8_HUMAN,G3V4X1_HUMAN,B4DR63_HUMAN	.	UPI00000041A5	SNV	PSMC1,missense_variant,p.Asp118Asn,ENST00000543772,;PSMC1,missense_variant,p.Asp28Asn,ENST00000553835,;PSMC1,missense_variant,p.Asp191Asn,ENST00000261303,;PSMC1,upstream_gene_variant,,ENST00000555787,;PSMC1,downstream_gene_variant,,ENST00000555679,;PSMC1,downstream_gene_variant,,ENST00000554624,;PSMC1,downstream_gene_variant,,ENST00000557357,;	674	84	76	SUCCESS
FSIP1	161835	.	GRCh37	15	40031879	40031879	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	27	0	ENST00000350221.3:c.767A>G	p.Lys256Arg	p.K256R	ENST00000350221	NM_152597.4	256	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10050.1	767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTAATA	NONE	.	.	Prints_domain:PR02075,Pfam_domain:PF15554,hmmpanther:PTHR22012,hmmpanther:PTHR22012:SF1	.	.	ENSP00000280236	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000350221	Transcript	.	.	ENSG00000150667	21674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	deleterious(0.01)	.	FSIP1_HUMAN	FSIP1	HGNC	.	.	UPI000006F96D	SNV	FSIP1,missense_variant,p.Lys256Arg,ENST00000350221,;FSIP1,non_coding_transcript_exon_variant,,ENST00000559692,;	977	27	22	SUCCESS
TCF12	6938	.	GRCh37	15	57212181	57212181	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	19	133	0	ENST00000267811.5:c.70A>G	p.Ser24Gly	p.S24G	ENST00000267811	NM_003205.3	24	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS10160.1	70	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCAGTGCG	NONE	.	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF11	.	.	ENSP00000388940	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000438423	Transcript	1	.	ENSG00000140262	11623	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HTF4_HUMAN	TCF12	HGNC	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY3_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN	.	UPI000018CEA6	SNV	TCF12,missense_variant,p.Ser24Gly,ENST00000557947,;TCF12,missense_variant,p.Ser24Gly,ENST00000438423,;TCF12,missense_variant,p.Ser24Gly,ENST00000557843,;TCF12,missense_variant,p.Ser24Gly,ENST00000559609,;TCF12,missense_variant,p.Ser24Gly,ENST00000267811,;TCF12,missense_variant,p.Ser24Gly,ENST00000333725,;TCF12,missense_variant,p.Ser24Gly,ENST00000452095,;ZNF280D,upstream_gene_variant,,ENST00000559000,;TCF12,non_coding_transcript_exon_variant,,ENST00000560190,;TCF12,non_coding_transcript_exon_variant,,ENST00000558908,;ZNF280D,upstream_gene_variant,,ENST00000560587,;ZNF280D,upstream_gene_variant,,ENST00000561122,;ZNF280D,upstream_gene_variant,,ENST00000559920,;TCF12,missense_variant,p.Ser24Gly,ENST00000561152,;	366	133	132	SUCCESS
ZNF592	9640	.	GRCh37	15	85327447	85327447	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	31	145	0	ENST00000299927.3:c.1541G>C	p.Ser514Thr	p.S514T	ENST00000299927		514	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS32317.1	1541	RADIA|MUTECT|MUSE	.	CCACAGTGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199	.	.	ENSP00000299927	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000299927	Transcript	1	.	ENSG00000166716	28986	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	ZN592_HUMAN	ZNF592	HGNC	.	.	UPI000013E5FC	SNV	ZNF592,missense_variant,p.Ser514Thr,ENST00000299927,;ZNF592,missense_variant,p.Ser514Thr,ENST00000560079,;ZNF592,missense_variant,p.Ser514Thr,ENST00000559607,;	1563	145	183	SUCCESS
CACNA1H	8912	.	GRCh37	16	1254427	1254427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773952204	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	53	177	0	ENST00000348261.5:c.2420C>T	p.Thr807Met	p.T807M	ENST00000348261	NM_021098.2	807	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS45375.1	2420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACACGCTGA	NONE	byFrequency	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	10/35	.	.	.	.	.	.	.	.	rs773952204	10/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.Thr807Met,ENST00000565831,;CACNA1H,missense_variant,p.Thr807Met,ENST00000358590,;CACNA1H,missense_variant,p.Thr807Met,ENST00000348261,;RP11-616M22.3,downstream_gene_variant,,ENST00000564700,;CACNA1H,upstream_gene_variant,,ENST00000569953,;	2668	177	272	SUCCESS
DNAH3	55567	.	GRCh37	16	20981196	20981196	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	23	98	0	ENST00000261383.3:c.8376A>G	p.Pro2792=	p.P2792=	ENST00000261383	NM_017539.1	2792	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS10594.1	8376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGGTGG	NONE	.	.	Pfam_domain:PF12777,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	52/62	.	.	.	.	.	.	.	.	.	52/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,synonymous_variant,p.%3D,ENST00000261383,;DNAH3,3_prime_UTR_variant,,ENST00000415178,;	8376	98	133	SUCCESS
PHKG2	5261	.	GRCh37	16	30760208	30760208	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	28	161	0	ENST00000563588.1:c.67A>T	p.Lys23Ter	p.K23*	ENST00000563588	NM_000294.2	23	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS10690.1	67	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGAAGTAC	NONE	.	.	hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF121,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000455607	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000563588	Transcript	.	.	ENSG00000156873	8931	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHKG2_HUMAN	PHKG2	HGNC	Q59GQ4_HUMAN,H3BTW6_HUMAN,H3BP07_HUMAN	.	UPI000012DF54	SNV	PHKG2,stop_gained,p.Lys23Ter,ENST00000563588,;PHKG2,stop_gained,p.Lys23Ter,ENST00000565897,;PHKG2,stop_gained,p.Lys23Ter,ENST00000565924,;PHKG2,stop_gained,p.Lys23Ter,ENST00000328273,;PHKG2,stop_gained,p.Lys23Ter,ENST00000424889,;PHKG2,upstream_gene_variant,,ENST00000561712,;RP11-2C24.4,non_coding_transcript_exon_variant,,ENST00000483578,;PHKG2,stop_gained,p.Lys23Ter,ENST00000563607,;PHKG2,non_coding_transcript_exon_variant,,ENST00000563913,;PHKG2,non_coding_transcript_exon_variant,,ENST00000569762,;PHKG2,non_coding_transcript_exon_variant,,ENST00000564838,;PHKG2,upstream_gene_variant,,ENST00000569684,;SRCAP,downstream_gene_variant,,ENST00000380361,;	306	161	183	SUCCESS
MEFV	4210	.	GRCh37	16	3298983	3298983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	49	0	ENST00000219596.1:c.1282G>A	p.Glu428Lys	p.E428K	ENST00000219596	NM_000243.2	428	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10498.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTCCAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103,Superfamily_domains:SSF57845	.	.	ENSP00000219596	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	deleterious(0.04)	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,missense_variant,p.Glu428Lys,ENST00000219596,;MEFV,missense_variant,p.Glu217Lys,ENST00000536379,;MEFV,missense_variant,p.Glu248Lys,ENST00000339854,;MEFV,missense_variant,p.Glu217Lys,ENST00000541159,;MEFV,missense_variant,p.Glu428Lys,ENST00000538326,;MEFV,missense_variant,p.Glu217Lys,ENST00000536980,;MEFV,missense_variant,p.Glu459Lys,ENST00000542898,;MEFV,missense_variant,p.Glu428Lys,ENST00000537682,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000570511,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;MEFV,intron_variant,,ENST00000539145,;MEFV,upstream_gene_variant,,ENST00000539154,;	1322	49	65	SUCCESS
SLC12A3	6559	.	GRCh37	16	56920369	56920369	+	synonymous_variant	Silent	SNP	C	C	A	rs758071801	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	54	1	ENST00000563236.1:c.2019C>A	p.Ile673=	p.I673=	ENST00000563236		673	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10770.1	2019	RADIA|MUTECT|VARSCANS	.	ATGATCTGTGG	NONE	byFrequency	.	hmmpanther:PTHR11827:SF9,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000402152	.	16/26	.	.	.	.	.	.	.	.	rs758071801	16/26	PASS	ENST00000438926	Transcript	.	.	ENSG00000070915	10912	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S12A3_HUMAN	SLC12A3	HGNC	.	.	UPI00001FF243	SNV	SLC12A3,synonymous_variant,p.%3D,ENST00000566786,;SLC12A3,synonymous_variant,p.%3D,ENST00000563236,;SLC12A3,synonymous_variant,p.%3D,ENST00000438926,;SLC12A3,synonymous_variant,p.%3D,ENST00000262502,;	2048	55	76	SUCCESS
CTCF	10664	.	GRCh37	16	67655390	67655390	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	108	0	ENST00000264010.4:c.1253A>G	p.Gln418Arg	p.Q418R	ENST00000264010	NM_006565.3	418	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS10841.1	1253	RADIA|MUTECT|MUSE|VARSCANS	.	TACCCAAAGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000264010	.	7/12	.	.	.	.	.	.	.	.	COSM255855	7/12	PASS	ENST00000264010	Transcript	.	.	ENSG00000102974	13723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	CTCF_HUMAN	CTCF	HGNC	.	.	UPI0000000DDE	SNV	CTCF,missense_variant,p.Gln90Arg,ENST00000401394,;CTCF,missense_variant,p.Gln418Arg,ENST00000264010,;	1697	108	108	SUCCESS
MYH13	8735	.	GRCh37	17	10227505	10227505	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	99	0	ENST00000252172.4:c.2768T>A	p.Val923Asp	p.V923D	ENST00000252172	NM_003802.2	923	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS45613.1	2768	MUTECT|MUSE	.	CCTTGACTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000404570	.	22/41	.	.	.	.	.	.	.	.	.	22/41	PASS	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.424)	.	deleterious(0)	.	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,missense_variant,p.Val923Asp,ENST00000418404,;MYH13,missense_variant,p.Val923Asp,ENST00000252172,;RP11-401O9.3,intron_variant,,ENST00000577743,;	2932	99	94	SUCCESS
SLC43A2	124935	.	GRCh37	17	1480000	1480000	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	58	1	ENST00000301335.5:c.1439A>T	p.Gln480Leu	p.Q480L	ENST00000301335		480	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11006.1	1439	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CGAACTGGGTG	NONE	.	.	hmmpanther:PTHR20766:SF2,hmmpanther:PTHR20766,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000301335	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000301335	Transcript	.	.	ENSG00000167703	23087	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.07)	.	LAT4_HUMAN	SLC43A2	HGNC	Q8NBW0_HUMAN	.	UPI00000707A9	SNV	SLC43A2,missense_variant,p.Gln343Leu,ENST00000412517,;SLC43A2,missense_variant,p.Gln484Leu,ENST00000571650,;SLC43A2,missense_variant,p.Gln480Leu,ENST00000301335,;SLC43A2,missense_variant,p.Gln484Leu,ENST00000382147,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000576537,;SLC43A2,downstream_gene_variant,,ENST00000576769,;	1528	59	67	SUCCESS
HOXB7	3217	.	GRCh37	17	46685442	46685442	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	64	0	ENST00000239165.7:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000239165	NM_004502.3	139	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11532.1	416	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCGTTTG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF129,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00025	.	.	ENSP00000239165	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239165	Transcript	.	.	ENSG00000260027	5118	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.577)	.	tolerated(0.07)	.	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,missense_variant,p.Arg139Gln,ENST00000239165,;HOXB6,upstream_gene_variant,,ENST00000225648,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB6,upstream_gene_variant,,ENST00000484302,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,non_coding_transcript_exon_variant,,ENST00000467314,;HOXB7,non_coding_transcript_exon_variant,,ENST00000567101,;HOXB6,upstream_gene_variant,,ENST00000490419,;HOXB3,upstream_gene_variant,,ENST00000552000,;	515	64	77	SUCCESS
IGF2BP1	10642	.	GRCh37	17	47119724	47119724	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	43	203	1	ENST00000290341.3:c.1062T>C	p.Asp354=	p.D354=	ENST00000290341	NM_006546.3	354	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS11543.1	1062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATGTGGC	NONE	.	.	hmmpanther:PTHR10288:SF136,hmmpanther:PTHR10288,Superfamily_domains:SSF54791	.	.	ENSP00000290341	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000290341	Transcript	.	.	ENSG00000159217	28866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B1_HUMAN	IGF2BP1	HGNC	D3DTW3_HUMAN	.	UPI0000117170	SNV	IGF2BP1,synonymous_variant,p.%3D,ENST00000290341,;IGF2BP1,synonymous_variant,p.%3D,ENST00000431824,;IGF2BP1,downstream_gene_variant,,ENST00000505562,;RP11-501C14.7,downstream_gene_variant,,ENST00000511142,;	1396	204	229	SUCCESS
USP32	84669	.	GRCh37	17	58303397	58303397	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	29	0	ENST00000300896.4:c.1432+3A>G		p.X478_splice	ENST00000300896	NM_032582.3	478		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32697.1	.	RADIA|MUSE|VARSCANS	.	ATATTTACCGC	NONE	.	.	.	.	.	ENSP00000300896	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000300896	Transcript	.	.	ENSG00000170832	19143	.	.	LOW	13/33	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP32_HUMAN	USP32	HGNC	Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN	.	UPI0000047AF8	SNV	USP32,splice_region_variant,,ENST00000590133,;USP32,splice_region_variant,,ENST00000592339,;USP32,splice_region_variant,,ENST00000300896,;USP32,splice_region_variant,,ENST00000591768,;USP32,downstream_gene_variant,,ENST00000589335,;USP32,splice_region_variant,,ENST00000587651,;USP32,splice_region_variant,,ENST00000589552,;	.	29	30	SUCCESS
C17orf49	124944	.	GRCh37	17	6920313	6920313	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs768995542	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	56	0	ENST00000439424.2:c.494A>C	p.Lys165Thr	p.K165T	ENST00000439424	NM_001142798.2	165	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS45595.1	494	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTAAGAAAC	NONE	.	.	hmmpanther:PTHR21397	.	.	ENSP00000448598	.	5/6	.	.	.	.	.	.	.	.	rs768995542	5/6	PASS	ENST00000546495	Transcript	.	.	ENSG00000258315	28737	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	BAP18_HUMAN	C17orf49	HGNC	F8W1H0_HUMAN	.	UPI0000494405	SNV	C17orf49,missense_variant,p.Lys165Thr,ENST00000546495,;RNASEK-C17orf49,missense_variant,p.Lys206Thr,ENST00000547302,;C17orf49,missense_variant,p.Lys131Thr,ENST00000552402,;C17orf49,missense_variant,p.Lys139Thr,ENST00000552775,;C17orf49,missense_variant,p.Lys165Thr,ENST00000439424,;C17orf49,intron_variant,,ENST00000546760,;RNASEK,downstream_gene_variant,,ENST00000570898,;RNASEK,downstream_gene_variant,,ENST00000552842,;AC027763.2,upstream_gene_variant,,ENST00000573939,;AC040977.1,upstream_gene_variant,,ENST00000593646,;RNASEK,downstream_gene_variant,,ENST00000402093,;AC027763.2,upstream_gene_variant,,ENST00000574377,;RNASEK,downstream_gene_variant,,ENST00000552321,;AC027763.2,upstream_gene_variant,,ENST00000399541,;RNASEK,downstream_gene_variant,,ENST00000548577,;AC027763.2,upstream_gene_variant,,ENST00000575889,;AC027763.2,upstream_gene_variant,,ENST00000399540,;AC027763.2,upstream_gene_variant,,ENST00000575727,;MIR497HG,downstream_gene_variant,,ENST00000385194,;MIR497HG,downstream_gene_variant,,ENST00000385056,;MIR497HG,non_coding_transcript_exon_variant,,ENST00000572453,;MIR497HG,intron_variant,,ENST00000443997,;RP11-589P10.7,intron_variant,,ENST00000572547,;C17orf49,non_coding_transcript_exon_variant,,ENST00000550038,;C17orf49,intron_variant,,ENST00000547709,;C17orf49,3_prime_UTR_variant,,ENST00000547747,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000549775,;C17orf49,non_coding_transcript_exon_variant,,ENST00000549857,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000547863,;RNASEK,downstream_gene_variant,,ENST00000549393,;RNASEK,downstream_gene_variant,,ENST00000546395,;AC027763.2,upstream_gene_variant,,ENST00000571010,;RNASEK,downstream_gene_variant,,ENST00000552176,;RNASEK,downstream_gene_variant,,ENST00000552039,;RNASEK,downstream_gene_variant,,ENST00000575822,;AC027763.2,upstream_gene_variant,,ENST00000570562,;AC027763.2,upstream_gene_variant,,ENST00000572385,;RNASEK-C17orf49,downstream_gene_variant,,ENST00000607564,;	857	56	46	SUCCESS
SDK2	54549	.	GRCh37	17	71334929	71334929	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199923333	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	20	199	0	ENST00000392650.3:c.6316G>A	p.Asp2106Asn	p.D2106N	ENST00000392650	NM_001144952.1	2106	Gac/Aac	0	.	T:0	.	T:0	.	T	D/N	protein_coding	YES	CCDS45769.1	6316	MUTECT|MUSE|VARSCANS	.	CGAGTCGCTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37	T:0.001	.	ENSP00000376421	T:0.001	45/45	.	.	.	.	.	.	.	.	rs199923333	45/45	PASS	ENST00000392650	Transcript	.	T:0.0004	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.747)	T:0	tolerated(0.12)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Asp1263Asn,ENST00000424778,;SDK2,missense_variant,p.Asp2087Asn,ENST00000388726,;SDK2,missense_variant,p.Asp2106Asn,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;	6317	199	248	SUCCESS
TP53	7157	.	GRCh37	17	7576928	7576928	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs397516439	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	34	156	0	ENST00000269305.4:c.920-2A>G		p.X307_splice	ENST00000269305	NM_001126112.2	307		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic	AGTGCTAGGAA	SITE|p.?|c.920-2A>G|6,SITE|p.?|c.920-2A>G|21,SITE|p.?|c.920-2A>G|5,SITE|p.?|c.920-2A>G|11,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.N310D|c.928A>G|3,BUFFER|p.N310fs*35|c.927delC|3,BUFFER|p.N310fs*35|c.927delC|3,BUFFER|p.P309S|c.925C>T|3,BUFFER|p.?|c.920-1G>T|6,BUFFER|p.?|c.920-1G>T|3,BUFFER|p.?|c.920-1G>A|13,BUFFER|p.?|c.920-1G>A|5,BUFFER|p.?|c.920-1G>T|7,BUFFER|p.?|c.920-2A>T|4,BUFFER|p.?|c.920-2A>T|9,BUFFER|p.?|c.920-2A>T|9	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	rs397516439,TP53_g.13990A>C,TP53_g.13990A>G,TP53_g.13990A>T,COSM45771,COSM33650,COSM131541,COSM131542,COSM121092,COSM3388167,COSM3717624,COSM1649347,COSM1646822	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	8/10	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	.	156	174	SUCCESS
CTD-2047H16.4	0	.	GRCh37	17	78327673	78327673	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	18	0	ENST00000575034.1:n.1606C>T		p.*536*	ENST00000575034				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58606.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGCGGAG	NONE	.	.	.	.	.	ENSP00000464087	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODIFIER	34/67	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,intron_variant,,ENST00000582970,;RNF213,intron_variant,,ENST00000336301,;RNF213,intron_variant,,ENST00000508628,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;CTD-2047H16.4,downstream_gene_variant,,ENST00000572151,;RNF213,upstream_gene_variant,,ENST00000560694,;RNF213,upstream_gene_variant,,ENST00000558116,;	.	18	43	SUCCESS
STARD6	147323	.	GRCh37	18	51851176	51851176	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	94	0	ENST00000307844.3:c.549A>C	p.Ile183=	p.I183=	ENST00000307844	NM_139171.1	183	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS11955.1	549	MUTECT|MUSE|VARSCANS	.	TCAATTATTGA	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000462349	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000581310	Transcript	.	.	ENSG00000174448	18066	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAR6_HUMAN	STARD6	HGNC	.	.	UPI0000136137	SNV	STARD6,synonymous_variant,p.%3D,ENST00000580990,;STARD6,synonymous_variant,p.%3D,ENST00000307844,;STARD6,synonymous_variant,p.%3D,ENST00000581310,;POLI,downstream_gene_variant,,ENST00000579823,;	923	94	101	SUCCESS
KEAP1	9817	.	GRCh37	19	10602442	10602442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	12	70	0	ENST00000171111.5:c.1136G>T	p.Gly379Val	p.G379V	ENST00000171111	NM_203500.1	379	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12239.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCGCCC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Gly379Val,ENST00000393623,;KEAP1,missense_variant,p.Gly379Val,ENST00000171111,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Gly39Val,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	1684	70	104	SUCCESS
EMR2	0	.	GRCh37	19	14865791	14865791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	31	158	0	ENST00000315576.3:c.1565T>C	p.Val522Ala	p.V522A	ENST00000315576	NM_013447.3	522	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32935.1	1565	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGACGGCA	NONE	.	.	PROSITE_profiles:PS50221,hmmpanther:PTHR12011:SF179,hmmpanther:PTHR12011,Pfam_domain:PF01825,SMART_domains:SM00303,Prints_domain:PR01278	.	.	ENSP00000319883	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,missense_variant,p.Val429Ala,ENST00000594076,;EMR2,missense_variant,p.Val473Ala,ENST00000594294,;EMR2,missense_variant,p.Val511Ala,ENST00000601345,;EMR2,missense_variant,p.Val473Ala,ENST00000346057,;EMR2,missense_variant,p.Val380Ala,ENST00000595839,;EMR2,missense_variant,p.Val380Ala,ENST00000353005,;EMR2,missense_variant,p.Val429Ala,ENST00000353876,;EMR2,missense_variant,p.Val522Ala,ENST00000315576,;EMR2,missense_variant,p.Val511Ala,ENST00000392967,;EMR2,missense_variant,p.Val511Ala,ENST00000596991,;EMR2,synonymous_variant,p.%3D,ENST00000392964,;EMR2,intron_variant,,ENST00000392965,;EMR2,synonymous_variant,p.%3D,ENST00000595208,;EMR2,intron_variant,,ENST00000392962,;EMR2,intron_variant,,ENST00000360222,;	2017	159	197	SUCCESS
PIK3R2	5296	.	GRCh37	19	18279669	18279669	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs748340519	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	27	149	0	ENST00000222254.8:c.1942G>T	p.Glu648Ter	p.E648*	ENST00000222254	NM_005027.3	648	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12371.1	1942	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGAGAGC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10155:SF1,hmmpanther:PTHR10155,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00678,Prints_domain:PR00401	.	.	ENSP00000222254	.	15/16	.	.	.	.	.	.	.	.	rs748340519	15/16	PASS	ENST00000222254	Transcript	1	.	ENSG00000105647	8980	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P85B_HUMAN	PIK3R2	HGNC	Q96CK7_HUMAN,M0QYU3_HUMAN	.	UPI000006EF95	SNV	PIK3R2,stop_gained,p.Glu648Ter,ENST00000222254,;IFI30,upstream_gene_variant,,ENST00000407280,;IFI30,upstream_gene_variant,,ENST00000597802,;PIK3R2,stop_gained,p.Glu648Ter,ENST00000593731,;PIK3R2,3_prime_UTR_variant,,ENST00000464016,;PIK3R2,3_prime_UTR_variant,,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000459743,;	2542	149	199	SUCCESS
ZNF536	9745	.	GRCh37	19	31040266	31040266	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	74	0	ENST00000355537.3:c.3740G>T	p.Gly1247Val	p.G1247V	ENST00000355537	NM_014717.1	1247	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32984.1	3740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGCCTGC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	deleterious_low_confidence(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly5Val,ENST00000592773,;ZNF536,missense_variant,p.Gly1247Val,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000585628,;	3887	74	76	SUCCESS
ATP4A	495	.	GRCh37	19	36048727	36048727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	80	0	ENST00000262623.3:c.1523A>T	p.Asp508Val	p.D508V	ENST00000262623	NM_000704.2	508	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS12467.1	1523	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCCTCC	NONE	.	.	Superfamily_domains:SSF81660,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	.	.	ENSP00000262623	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000262623	Transcript	.	.	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.32)	.	deleterious(0)	.	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Asp508Val,ENST00000262623,;ATP4A,downstream_gene_variant,,ENST00000590916,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,upstream_gene_variant,,ENST00000592131,;	1552	80	101	SUCCESS
NFKBID	84807	.	GRCh37	19	36387302	36387302	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1374673489	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	78	0	ENST00000396901.1:c.397G>A	p.Val133Ile	p.V133I	ENST00000396901	NM_139239.1	133	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS42552.1	397	MUTECT|MUSE|VARSCANS	.	GAGAACTCCTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24124:SF5,hmmpanther:PTHR24124,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000380109	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000396901	Transcript	.	.	ENSG00000167604	15671	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	tolerated(0.17)	.	IKBD_HUMAN	NFKBID	HGNC	.	.	UPI000006EE99	SNV	NFKBID,missense_variant,p.Val133Ile,ENST00000606253,;NFKBID,missense_variant,p.Val148Ile,ENST00000585925,;NFKBID,missense_variant,p.Val285Ile,ENST00000352614,;NFKBID,missense_variant,p.Val133Ile,ENST00000396901,;NFKBID,downstream_gene_variant,,ENST00000585544,;NFKBID,non_coding_transcript_exon_variant,,ENST00000591730,;NFKBID,non_coding_transcript_exon_variant,,ENST00000588497,;NFKBID,non_coding_transcript_exon_variant,,ENST00000590094,;NFKBID,non_coding_transcript_exon_variant,,ENST00000586361,;NFKBID,upstream_gene_variant,,ENST00000590828,;NFKBID,downstream_gene_variant,,ENST00000588039,;	971	78	97	SUCCESS
ZNF790	388536	.	GRCh37	19	37310227	37310227	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs375770964	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	74	0	ENST00000356725.4:c.1019G>C	p.Cys340Ser	p.C340S	ENST00000356725	NM_206894.3	340	tGt/tCt	0	G:0.0002	.	.	.	.	G	C/S	protein_coding	YES	CCDS12496.1	1019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTACATTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	G:0	ENSP00000349161	.	5/5	.	.	.	.	.	.	.	.	rs375770964	5/5	PASS	ENST00000356725	Transcript	.	.	ENSG00000197863	33114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN790_HUMAN	ZNF790	HGNC	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN	.	UPI0000160EF0	SNV	ZNF790,missense_variant,p.Cys340Ser,ENST00000356725,;ZNF790,downstream_gene_variant,,ENST00000586323,;ZNF790,downstream_gene_variant,,ENST00000528994,;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;	1140	74	70	SUCCESS
ZNF546	339327	.	GRCh37	19	40520371	40520371	+	synonymous_variant	Silent	SNP	A	A	T	rs758648271	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	94	0	ENST00000347077.4:c.1194A>T	p.Ser398=	p.S398=	ENST00000347077	NM_178544.3	398	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12548.1	1194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCATACCT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000339823	.	7/7	.	.	.	.	.	.	.	.	rs758648271	7/7	PASS	ENST00000347077	Transcript	.	.	ENSG00000187187	28671	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN546_HUMAN	ZNF546	HGNC	M0R292_HUMAN,M0QXR6_HUMAN	.	UPI00001984E3	SNV	ZNF546,synonymous_variant,p.%3D,ENST00000600094,;ZNF546,synonymous_variant,p.%3D,ENST00000347077,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000601138,;ZNF546,downstream_gene_variant,,ENST00000599504,;	1410	94	77	SUCCESS
CEACAM4	1089	.	GRCh37	19	42125996	42125996	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	29	119	0	ENST00000221954.2:c.669+47C>G		p.*223*	ENST00000221954	NM_001817.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGGTCCC	NONE	.	.	.	.	.	ENSP00000221954	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000221954	Transcript	.	.	ENSG00000105352	1816	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	SNV	CEACAM4,missense_variant,p.Pro237Arg,ENST00000600925,;CEACAM4,intron_variant,,ENST00000221954,;	.	119	134	SUCCESS
EHD2	30846	.	GRCh37	19	48229309	48229309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	48	0	ENST00000263277.3:c.743A>T	p.Glu248Val	p.E248V	ENST00000263277	NM_014601.3	248	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12704.1	743	MUTECT|MUSE	.	GCCCGAGGTGC	NONE	.	.	PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216,Superfamily_domains:SSF52540	.	.	ENSP00000263277	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000263277	Transcript	.	.	ENSG00000024422	3243	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	EHD2_HUMAN	EHD2	HGNC	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN	.	UPI0000071B66	SNV	EHD2,missense_variant,p.Glu112Val,ENST00000538399,;EHD2,missense_variant,p.Glu248Val,ENST00000263277,;CTD-2571L23.8,intron_variant,,ENST00000599924,;EHD2,upstream_gene_variant,,ENST00000540884,;EHD2,upstream_gene_variant,,ENST00000602215,;EHD2,upstream_gene_variant,,ENST00000596225,;	994	48	49	SUCCESS
OSCAR	126014	.	GRCh37	19	54600387	54600387	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	15	87	0	ENST00000359649.4:c.147T>A	p.Pro49=	p.P49=	ENST00000359649	NM_206818.1	49	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12876.1	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCAGGGGT	NONE	.	.	hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352671	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,synonymous_variant,p.%3D,ENST00000284648,;OSCAR,synonymous_variant,p.%3D,ENST00000351806,;OSCAR,synonymous_variant,p.%3D,ENST00000356532,;OSCAR,synonymous_variant,p.%3D,ENST00000359649,;OSCAR,synonymous_variant,p.%3D,ENST00000391761,;OSCAR,synonymous_variant,p.%3D,ENST00000358375,;OSCAR,intron_variant,,ENST00000391760,;	170	87	87	SUCCESS
LILRB3	11025	.	GRCh37	19	54725007	54725007	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759194325	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	5	100	0	ENST00000245620.9:c.903C>A	p.Asn301Lys	p.N301K	ENST00000245620		301	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46175.1	903	MUTECT|MUSE	.	GAGAGGTTGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000245620	.	5/13	.	.	.	.	.	.	.	.	rs759194325	5/13	PASS	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,missense_variant,p.Asn301Lys,ENST00000424807,;LILRB3,missense_variant,p.Asn301Lys,ENST00000407860,;LILRA6,missense_variant,p.Asn301Lys,ENST00000270464,;LILRB3,missense_variant,p.Asn301Lys,ENST00000391750,;LILRB3,missense_variant,p.Asn301Lys,ENST00000245620,;LILRB3,missense_variant,p.Asn301Lys,ENST00000346401,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,intron_variant,,ENST00000440558,;LILRA6,intron_variant,,ENST00000419410,;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,upstream_gene_variant,,ENST00000460208,;	905	100	124	SUCCESS
CD209	30835	.	GRCh37	19	7807945	7807945	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752457226	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	59	0	ENST00000315599.7:c.1195C>A	p.Pro399Thr	p.P399T	ENST00000315599	NM_021155.3	399	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12186.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGGGGTGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802	.	.	ENSP00000315477	.	7/7	.	.	.	.	.	.	.	.	rs752457226	7/7	PASS	ENST00000315599	Transcript	1	.	ENSG00000090659	1641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.13)	.	CD209_HUMAN	CD209	HGNC	B4E2A8_HUMAN	.	UPI000003422C	SNV	CD209,missense_variant,p.Pro375Thr,ENST00000315591,;CD209,missense_variant,p.Pro329Thr,ENST00000593660,;CD209,missense_variant,p.Pro355Thr,ENST00000204801,;CD209,missense_variant,p.Pro163Thr,ENST00000394161,;CD209,missense_variant,p.Pro238Thr,ENST00000394173,;CD209,missense_variant,p.Pro393Thr,ENST00000354397,;CD209,missense_variant,p.Pro263Thr,ENST00000301357,;CD209,missense_variant,p.Pro399Thr,ENST00000315599,;CD209,missense_variant,p.Pro307Thr,ENST00000602261,;CD209,missense_variant,p.Pro375Thr,ENST00000601951,;CD209,missense_variant,p.Pro263Thr,ENST00000593821,;CD209,downstream_gene_variant,,ENST00000601256,;	1218	59	53	SUCCESS
MUC16	94025	.	GRCh37	19	9073366	9073366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	34	171	0	ENST00000397910.4:c.14080C>T	p.Leu4694Phe	p.L4694F	ENST00000397910	NM_024690.2	4694	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS54212.1	14080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGTGGAA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu4694Phe,ENST00000397910,;	14284	171	177	SUCCESS
SELENBP1	8991	.	GRCh37	1	151345144	151345144	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs777457046	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	79	0	ENST00000368868.5:c.-27C>T		p.*9*	ENST00000368868	NM_003944.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS995.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGGCGGG	NONE	byFrequency	.	.	.	.	ENSP00000357861	.	1/12	.	.	.	.	.	.	.	.	rs777457046	1/12	PASS	ENST00000368868	Transcript	.	.	ENSG00000143416	10719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBP1_HUMAN	SELENBP1	HGNC	C9JVL0_HUMAN	.	UPI000007300D	SNV	SELENBP1,5_prime_UTR_variant,,ENST00000368868,;SELENBP1,5_prime_UTR_variant,,ENST00000435071,;SELENBP1,5_prime_UTR_variant,,ENST00000447402,;SELENBP1,5_prime_UTR_variant,,ENST00000458566,;SELENBP1,5_prime_UTR_variant,,ENST00000426705,;SELENBP1,upstream_gene_variant,,ENST00000427867,;SELENBP1,upstream_gene_variant,,ENST00000424475,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000473693,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000498494,;SELENBP1,5_prime_UTR_variant,,ENST00000455397,;SELENBP1,5_prime_UTR_variant,,ENST00000423070,;SELENBP1,5_prime_UTR_variant,,ENST00000455839,;SELENBP1,5_prime_UTR_variant,,ENST00000443708,;SELENBP1,5_prime_UTR_variant,,ENST00000427977,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000492643,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000470345,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000474352,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000493560,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000463664,;SELENBP1,upstream_gene_variant,,ENST00000465273,;	66	79	77	SUCCESS
EFNA3	1944	.	GRCh37	1	155057577	155057577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	113	0	ENST00000368408.3:c.139G>A	p.Glu47Lys	p.E47K	ENST00000368408	NM_004952.4	47	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1090.1	139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGAGGGC	NONE	.	.	PROSITE_profiles:PS51551,hmmpanther:PTHR11304:SF5,hmmpanther:PTHR11304,Pfam_domain:PF00812,Gene3D:2.60.40.420,Superfamily_domains:SSF49503,Prints_domain:PR01347	.	.	ENSP00000357393	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000368408	Transcript	.	.	ENSG00000143590	3223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	tolerated(0.1)	.	EFNA3_HUMAN	EFNA3	HGNC	.	.	UPI0000129C8F	SNV	EFNA3,missense_variant,p.Glu47Lys,ENST00000418360,;EFNA3,missense_variant,p.Glu47Lys,ENST00000368408,;EFNA3,missense_variant,p.Glu42Lys,ENST00000556931,;EFNA3,missense_variant,p.Glu42Lys,ENST00000505139,;EFNA3,upstream_gene_variant,,ENST00000470294,;EFNA3,upstream_gene_variant,,ENST00000498667,;	209	113	120	SUCCESS
CCT3	7203	.	GRCh37	1	156303388	156303388	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs773818166	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	44	0	ENST00000295688.3:c.254G>C	p.Arg85Pro	p.R85P	ENST00000295688	NM_005998.4	85	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS1140.2	254	MUTECT|MUSE|VARSCANS	.	GGGTCCGGCTA	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592	.	.	ENSP00000295688	.	5/14	.	.	.	.	.	.	.	.	rs773818166	5/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Arg40Pro,ENST00000368261,;CCT3,missense_variant,p.Arg47Pro,ENST00000368259,;CCT3,missense_variant,p.Arg64Pro,ENST00000478640,;CCT3,missense_variant,p.Arg71Pro,ENST00000446905,;CCT3,missense_variant,p.Arg6Pro,ENST00000533194,;CCT3,missense_variant,p.Arg109Pro,ENST00000413555,;CCT3,missense_variant,p.Arg85Pro,ENST00000496684,;CCT3,missense_variant,p.Arg40Pro,ENST00000472765,;CCT3,missense_variant,p.Arg85Pro,ENST00000295688,;CCT3,missense_variant,p.Arg85Pro,ENST00000415548,;TSACC,upstream_gene_variant,,ENST00000368253,;TSACC,upstream_gene_variant,,ENST00000368254,;TSACC,upstream_gene_variant,,ENST00000470342,;TSACC,upstream_gene_variant,,ENST00000368255,;CCT3,non_coding_transcript_exon_variant,,ENST00000463132,;CCT3,non_coding_transcript_exon_variant,,ENST00000368256,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;CCT3,downstream_gene_variant,,ENST00000489870,;	535	44	42	SUCCESS
SLC9C2	284525	.	GRCh37	1	173478714	173478714	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	116	0	ENST00000367714.3:c.3032T>G	p.Ile1011Ser	p.I1011S	ENST00000367714	NM_178527.3	1011	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS1308.1	3032	RADIA|MUTECT|MUSE|VARSCANS	.	CATCAATAAGA	NONE	.	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110	.	.	ENSP00000356687	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.24)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Ile1011Ser,ENST00000367714,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	3455	116	115	SUCCESS
ASTN1	460	.	GRCh37	1	176853524	176853524	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	23	149	0	ENST00000361833.2:c.3177C>A	p.Leu1059=	p.L1059=	ENST00000361833		1059	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1319.1	3177	RADIA|MUTECT|MUSE|VARSCANS	.	TGACGGAGGAG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	19/23	.	.	.	.	.	.	.	.	COSM3863663,COSM3863664	19/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,synonymous_variant,p.%3D,ENST00000367654,;ASTN1,synonymous_variant,p.%3D,ENST00000424564,;ASTN1,synonymous_variant,p.%3D,ENST00000361833,;ASTN1,synonymous_variant,p.%3D,ENST00000367657,;	3191	149	169	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186909157	186909157	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	66	0	ENST00000367466.3:c.964G>T	p.Ala322Ser	p.A322S	ENST00000367466	NM_024420.2	322	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1372.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGCACAA	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0.03)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Ala262Ser,ENST00000442353,;PLA2G4A,missense_variant,p.Ala322Ser,ENST00000367466,;PLA2G4A,downstream_gene_variant,,ENST00000466600,;	1116	66	60	SUCCESS
IGFN1	91156	.	GRCh37	1	201184848	201184848	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	34	179	0	ENST00000295591.8:c.657G>T	p.Gly219=	p.G219=	ENST00000295591		219	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS53455.1	9177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGGATGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145	.	.	ENSP00000334714	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,synonymous_variant,p.%3D,ENST00000295591,;IGFN1,synonymous_variant,p.%3D,ENST00000412892,;IGFN1,synonymous_variant,p.%3D,ENST00000335211,;IGFN1,intron_variant,,ENST00000451870,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;IGFN1,intron_variant,,ENST00000437879,;	9307	179	198	SUCCESS
RBBP5	5929	.	GRCh37	1	205065957	205065957	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	20	101	0	ENST00000264515.6:c.1249G>A	p.Gly417Ser	p.G417S	ENST00000264515	NM_001193273.1	417	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS30983.1	1249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCGTAAG	NONE	.	.	hmmpanther:PTHR12816	.	.	ENSP00000264515	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000264515	Transcript	.	.	ENSG00000117222	9888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.383)	.	tolerated(0.06)	.	RBBP5_HUMAN	RBBP5	HGNC	.	.	UPI00001A9CA5	SNV	RBBP5,missense_variant,p.Gly417Ser,ENST00000264515,;RBBP5,missense_variant,p.Gly417Ser,ENST00000367164,;RP11-536L3.4,downstream_gene_variant,,ENST00000603227,;	1391	101	113	SUCCESS
HHAT	55733	.	GRCh37	1	210847644	210847644	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	83	0	ENST00000261458.3:c.1405A>T	p.Thr469Ser	p.T469S	ENST00000261458	NM_018194.4	469	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS53471.1	1408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGACCCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20	.	.	ENSP00000438468	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.487)	.	deleterious(0.02)	.	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Thr406Ser,ENST00000545781,;HHAT,missense_variant,p.Thr469Ser,ENST00000367010,;HHAT,missense_variant,p.Thr469Ser,ENST00000413764,;HHAT,missense_variant,p.Thr404Ser,ENST00000537898,;HHAT,missense_variant,p.Thr424Ser,ENST00000308852,;HHAT,missense_variant,p.Thr470Ser,ENST00000545154,;HHAT,missense_variant,p.Thr332Ser,ENST00000541565,;HHAT,missense_variant,p.Thr159Ser,ENST00000367009,;HHAT,missense_variant,p.Thr469Ser,ENST00000261458,;	1513	83	100	SUCCESS
CELA3A	10136	.	GRCh37	1	22336295	22336295	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs572609699	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	282	52	294	0	ENST00000290122.3:c.740T>C	p.Ile247Thr	p.I247T	ENST00000290122	NM_005747.4	247	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS220.1	740	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATCTGGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000290122	.	7/8	.	.	.	.	.	.	.	.	rs572609699	7/8	PASS	ENST00000290122	Transcript	.	.	ENSG00000142789	15944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.34)	.	CEL3A_HUMAN	CELA3A	HGNC	B1AQ52_HUMAN	.	UPI0000175BF8	SNV	CELA3A,missense_variant,p.Ile247Thr,ENST00000290122,;CELA3A,missense_variant,p.Ile55Thr,ENST00000400271,;CELA3A,downstream_gene_variant,,ENST00000374663,;RNU6-776P,upstream_gene_variant,,ENST00000364403,;RN7SL186P,upstream_gene_variant,,ENST00000466485,;	759	294	334	SUCCESS
EPHA8	2046	.	GRCh37	1	22902826	22902826	+	synonymous_variant	Silent	SNP	C	C	T	rs145476843	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	77	290	1	ENST00000166244.3:c.276C>T	p.Asp92=	p.D92=	ENST00000166244	NM_020526.3	92	gaC/gaT	0	T:0	T:0	.	T:0.0014	.	T	D	protein_coding	YES	CCDS225.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGACGGCGC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS51550	T:0	T:0.0008	ENSP00000166244	T:0.002	3/17	.	.	.	.	.	.	.	.	rs145476843,COSM4029288,COSM4029289	3/17	PASS	ENST00000166244	Transcript	.	T:0.0008	ENSG00000070886	3391	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0.001	.	0,1,1	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,synonymous_variant,p.%3D,ENST00000374644,;EPHA8,synonymous_variant,p.%3D,ENST00000538803,;EPHA8,synonymous_variant,p.%3D,ENST00000166244,;	348	291	380	SUCCESS
C1QA	712	.	GRCh37	1	22965803	22965803	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	21	89	0	ENST00000374642.3:c.641A>T	p.Gln214Leu	p.Q214L	ENST00000374642	NM_015991.2	214	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS226.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAGGTCT	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF79,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000363773	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374642	Transcript	.	.	ENSG00000173372	1241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0.05)	.	C1QA_HUMAN	C1QA	HGNC	.	.	UPI00000012E3	SNV	C1QA,missense_variant,p.Gln214Leu,ENST00000402322,;C1QA,missense_variant,p.Gln214Leu,ENST00000374642,;C1QA,missense_variant,p.Gln214Leu,ENST00000438241,;C1QC,upstream_gene_variant,,ENST00000374640,;C1QC,upstream_gene_variant,,ENST00000374637,;C1QC,upstream_gene_variant,,ENST00000374639,;	845	89	113	SUCCESS
CHRM3	1131	.	GRCh37	1	240071769	240071769	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	24	155	0	ENST00000255380.4:c.1018A>G	p.Asn340Asp	p.N340D	ENST00000255380	NM_000740.2	340	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1616.1	1018	RADIA|MUTECT|MUSE|VARSCANS	.	ACAACAATGAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Pfam_domain:PF00001	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.37)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Asn340Asp,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	1797	155	175	SUCCESS
ZBTB18	10472	.	GRCh37	1	244217640	244217640	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769296405	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	35	165	0	ENST00000358704.4:c.564G>T	p.Glu188Asp	p.E188D	ENST00000358704	NM_205768.2	188	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS1622.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAGCCTGG	NONE	.	.	hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	rs769296405	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.593)	.	tolerated(0.34)	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,missense_variant,p.Glu188Asp,ENST00000358704,;	713	165	201	SUCCESS
JUN	3725	.	GRCh37	1	59248012	59248012	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	66	0	ENST00000371222.2:c.731C>T	p.Pro244Leu	p.P244L	ENST00000371222	NM_002228.3	244	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS610.1	731	RADIA|MUTECT|MUSE	.	CGATGGGGGAC	NONE	.	.	hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF8,Gene3D:1.10.880.10,Superfamily_domains:SSF47454,Prints_domain:PR00043	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.974)	.	deleterious(0.01)	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	SNV	JUN,missense_variant,p.Pro244Leu,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	1774	66	73	SUCCESS
NPHP4	261734	.	GRCh37	1	5964775	5964775	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs543023683	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	28	189	1	ENST00000378156.4:c.2045G>A	p.Arg682Gln	p.R682Q	ENST00000378156	NM_015102.3	682	cGa/cAa	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS44052.1	2045	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCGTGGC	NONE	by1000G	.	hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	T:0.001	.	ENSP00000367398	T:0	16/30	.	.	.	.	.	.	.	.	rs543023683,COSM1217709	16/30	PASS	ENST00000378156	Transcript	.	T:0.0002	ENSG00000131697	19104	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	T:0	tolerated(0.11)	0,1	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,missense_variant,p.Arg682Gln,ENST00000378156,;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,missense_variant,p.Arg681Gln,ENST00000489180,;NPHP4,missense_variant,p.Arg42Gln,ENST00000466897,;NPHP4,3_prime_UTR_variant,,ENST00000378169,;	2311	190	263	SUCCESS
ABCA4	24	.	GRCh37	1	94578571	94578571	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761112891	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	27	176	0	ENST00000370225.3:c.118A>G	p.Ile40Val	p.I40V	ENST00000370225	NM_000350.2	40	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS747.1	118	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATCAAGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	2/50	.	.	.	.	.	.	.	.	rs761112891	2/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(1)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Ile40Val,ENST00000370225,;ABCA4,missense_variant,p.Ile40Val,ENST00000535735,;	205	176	191	SUCCESS
JAG1	182	.	GRCh37	20	10644621	10644621	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	15	140	0	ENST00000254958.5:c.429T>C	p.Asn143=	p.N143=	ENST00000254958	NM_000214.2	143	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS13112.1	429	MUTECT|MUSE|VARSCANS	.	GTGTCATTACT	NONE	.	.	hmmpanther:PTHR24044:SF212,hmmpanther:PTHR24044	.	.	ENSP00000254958	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000254958	Transcript	1	.	ENSG00000101384	6188	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JAG1_HUMAN	JAG1	HGNC	B7U6M8_HUMAN,B4DYR1_HUMAN	.	UPI00000498B5	SNV	JAG1,synonymous_variant,p.%3D,ENST00000254958,;JAG1,upstream_gene_variant,,ENST00000423891,;	945	140	160	SUCCESS
PTPRT	11122	.	GRCh37	20	40980734	40980734	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	9	93	0	ENST00000373198.4:c.1752C>A	p.Thr584=	p.T584=	ENST00000373198	NM_133170.3	584	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42874.1	1752	MUTECT|MUSE	.	ATTTTGGTGGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000362283	.	10/31	.	.	.	.	.	.	.	.	COSM723634	10/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,synonymous_variant,p.%3D,ENST00000373201,;PTPRT,synonymous_variant,p.%3D,ENST00000356100,;PTPRT,synonymous_variant,p.%3D,ENST00000373198,;PTPRT,synonymous_variant,p.%3D,ENST00000373193,;PTPRT,synonymous_variant,p.%3D,ENST00000373184,;PTPRT,synonymous_variant,p.%3D,ENST00000373190,;PTPRT,synonymous_variant,p.%3D,ENST00000373187,;	1752	93	124	SUCCESS
BMP7	655	.	GRCh37	20	55841132	55841132	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	14	0	ENST00000395863.3:c.47C>A	p.Ala16Glu	p.A16E	ENST00000395863	NM_001719.2	16	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS13455.1	47	MUTECT|MUSE	.	AGAGCGCCACG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135	.	.	ENSP00000379204	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000395863	Transcript	.	.	ENSG00000101144	1074	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.048)	.	tolerated_low_confidence(0.1)	.	BMP7_HUMAN	BMP7	HGNC	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN	.	UPI00000349AD	SNV	BMP7,missense_variant,p.Ala16Glu,ENST00000395863,;BMP7,missense_variant,p.Ala16Glu,ENST00000450594,;BMP7,missense_variant,p.Ala16Glu,ENST00000395864,;BMP7,upstream_gene_variant,,ENST00000433911,;RP4-813D12.3,upstream_gene_variant,,ENST00000412321,;RP4-813D12.3,upstream_gene_variant,,ENST00000426580,;	553	14	31	SUCCESS
PCK1	5105	.	GRCh37	20	56139664	56139664	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	29	0	ENST00000319441.4:c.1313C>T	p.Pro438Leu	p.P438L	ENST00000319441	NM_002591.3	438	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13460.1	1313	RADIA|MUTECT|MUSE|VARSCANS	.	TAGACCTGCTG	NONE	.	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.90.228.20,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795	.	.	ENSP00000319814	.	8/10	.	.	.	.	.	.	.	.	COSM3963705	8/10	PASS	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,missense_variant,p.Pro438Leu,ENST00000319441,;PCK1,missense_variant,p.Pro121Leu,ENST00000543666,;PCK1,3_prime_UTR_variant,,ENST00000535860,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	1477	29	37	SUCCESS
ASCC2	84164	.	GRCh37	22	30202864	30202865	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	75	0	ENST00000307790.3:c.937_938del	p.Ser313ProfsTer28	p.S313Pfs*28	ENST00000307790	NM_032204.4	313	TCc/c	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS13869.1	937-938	VARSCANI*|PINDEL	.	GAATGGGAGAGCC	NONE	.	.	hmmpanther:PTHR21494,hmmpanther:PTHR21494:SF0	.	.	ENSP00000380877	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000397771	Transcript	.	.	ENSG00000100325	24103	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASCC2_HUMAN	ASCC2	HGNC	B1AH59_HUMAN	.	UPI000006E83B	deletion	ASCC2,frameshift_variant,p.Ser313ProfsTer28,ENST00000307790,;ASCC2,frameshift_variant,p.Ser237ProfsTer28,ENST00000542393,;ASCC2,frameshift_variant,p.Ser313ProfsTer28,ENST00000397771,;ASCC2,upstream_gene_variant,,ENST00000411532,;ASCC2,non_coding_transcript_exon_variant,,ENST00000464287,;ASCC2,non_coding_transcript_exon_variant,,ENST00000478812,;ASCC2,non_coding_transcript_exon_variant,,ENST00000472433,;ASCC2,3_prime_UTR_variant,,ENST00000458594,;ASCC2,upstream_gene_variant,,ENST00000487486,;	1115-1116	75	61	SUCCESS
RANGAP1	5905	.	GRCh37	22	41652812	41652812	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567605253	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	9	56	0	ENST00000356244.3:c.791G>A	p.Arg264Gln	p.R264Q	ENST00000356244	NM_002883.3	264	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS14012.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCGCAAG	NONE	by1000G	.	hmmpanther:PTHR24113:SF5,hmmpanther:PTHR24113,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	T:0	.	ENSP00000401470	T:0	7/15	.	.	.	.	.	.	.	.	rs567605253	7/15	PASS	ENST00000455915	Transcript	.	T:0.0002	ENSG00000100401	9854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	T:0	tolerated(0.28)	.	RAGP1_HUMAN	RANGAP1	HGNC	Q9BSK3_HUMAN,Q8WUS7_HUMAN,B4E0U0_HUMAN,B0QYT6_HUMAN,B0QYT5_HUMAN,B0QYT4_HUMAN	.	UPI0000000DD9	SNV	RANGAP1,missense_variant,p.Arg264Gln,ENST00000455915,;RANGAP1,missense_variant,p.Arg264Gln,ENST00000356244,;RANGAP1,missense_variant,p.Arg264Gln,ENST00000405486,;RANGAP1,missense_variant,p.Arg209Gln,ENST00000407260,;RANGAP1,missense_variant,p.Arg160Gln,ENST00000446258,;	2261	56	67	SUCCESS
DDX18	8886	.	GRCh37	2	118575029	118575029	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1417732613	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	26	0	ENST00000263239.2:c.95A>G	p.Asn32Ser	p.N32S	ENST00000263239	NM_006773.3	32	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS2120.1	95	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAATCTGA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF171	.	.	ENSP00000263239	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000263239	Transcript	.	.	ENSG00000088205	2741	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.47)	.	DDX18_HUMAN	DDX18	HGNC	Q53TI6_HUMAN,Q4ZG72_HUMAN	.	UPI000012907E	SNV	DDX18,missense_variant,p.Asn32Ser,ENST00000263239,;DDX18,upstream_gene_variant,,ENST00000415038,;DDX18,non_coding_transcript_exon_variant,,ENST00000474694,;DDX18,upstream_gene_variant,,ENST00000489933,;	223	26	22	SUCCESS
PSMD1	5707	.	GRCh37	2	231927267	231927267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	43	0	ENST00000308696.6:c.182C>T	p.Ala61Val	p.A61V	ENST00000308696	NM_002807.3	61	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2482.1	182	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCTTAG	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947,Superfamily_domains:SSF48371	.	.	ENSP00000309474	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Ala61Val,ENST00000409643,;PSMD1,missense_variant,p.Ala61Val,ENST00000440838,;PSMD1,missense_variant,p.Ala61Val,ENST00000373635,;PSMD1,missense_variant,p.Ala61Val,ENST00000308696,;PSMD1,upstream_gene_variant,,ENST00000444007,;PSMD1,intron_variant,,ENST00000431051,;	344	43	47	SUCCESS
NDUFAF7	55471	.	GRCh37	2	37474750	37474750	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758326561	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	89	0	ENST00000002125.4:c.1088T>C	p.Met363Thr	p.M363T	ENST00000002125	NM_144736.4	363	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS1788.1	1088	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATGGGTA	NONE	.	.	hmmpanther:PTHR12049,hmmpanther:PTHR12049:SF5,Superfamily_domains:SSF53335	.	.	ENSP00000002125	.	9/10	.	.	.	.	.	.	.	.	rs758326561	9/10	PASS	ENST00000002125	Transcript	.	.	ENSG00000003509	28816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	NDUF7_HUMAN	NDUFAF7	HGNC	C9JS27_HUMAN,C9JP36_HUMAN,C9JEL7_HUMAN,C9J236_HUMAN	.	UPI000004A041	SNV	NDUFAF7,missense_variant,p.Met363Thr,ENST00000002125,;NDUFAF7,missense_variant,p.Met265Thr,ENST00000336237,;NDUFAF7,downstream_gene_variant,,ENST00000431821,;NDUFAF7,downstream_gene_variant,,ENST00000439218,;PRKD3,downstream_gene_variant,,ENST00000234179,;PRKD3,downstream_gene_variant,,ENST00000379066,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000419278,;NDUFAF7,downstream_gene_variant,,ENST00000483999,;NDUFAF7,missense_variant,p.Met51Thr,ENST00000441905,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474154,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474257,;NDUFAF7,downstream_gene_variant,,ENST00000455230,;	1128	89	102	SUCCESS
SOCS5	9655	.	GRCh37	2	46986955	46986955	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	25	228	0	ENST00000306503.5:c.1286G>A	p.Arg429Gln	p.R429Q	ENST00000306503	NM_014011.4	429	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS1830.1	1286	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGAATTG	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF28,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000305133	.	2/2	.	.	.	.	.	.	.	.	COSM76543,COSM721746	2/2	PASS	ENST00000306503	Transcript	.	.	ENSG00000171150	16852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.817)	.	deleterious(0.02)	1,1	SOCS5_HUMAN	SOCS5	HGNC	B4DL10_HUMAN	.	UPI0000135B69	SNV	SOCS5,missense_variant,p.Arg429Gln,ENST00000394861,;SOCS5,missense_variant,p.Arg429Gln,ENST00000306503,;	1458	228	201	SUCCESS
WDR92	0	.	GRCh37	2	68365900	68365900	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs35021866	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	7	102	0	ENST00000295121.6:c.607C>T	p.Arg203Trp	p.R203W	ENST00000295121	NM_138458.3	203	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1884.1	607	MUTECT|MUSE|VARSCANS	.	CCACCGTAATG	NONE	byCluster	.	hmmpanther:PTHR10971:SF2,hmmpanther:PTHR10971,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000295121	.	5/8	.	.	.	.	.	.	.	.	rs35021866	5/8	PASS	ENST00000295121	Transcript	.	.	ENSG00000243667	25176	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	WDR92_HUMAN	WDR92	HGNC	Q8ND98_HUMAN,Q86YQ0_HUMAN	.	UPI000006F50D	SNV	WDR92,missense_variant,p.Arg203Trp,ENST00000409164,;WDR92,missense_variant,p.Arg102Trp,ENST00000406245,;WDR92,missense_variant,p.Arg7Trp,ENST00000457114,;WDR92,missense_variant,p.Arg203Trp,ENST00000295121,;WDR92,non_coding_transcript_exon_variant,,ENST00000492039,;RP11-474G23.1,3_prime_UTR_variant,,ENST00000406334,;	724	102	95	SUCCESS
ASAP2	8853	.	GRCh37	2	9347355	9347355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	30	0	ENST00000281419.3:c.122A>T	p.Glu41Val	p.E41V	ENST00000281419	NM_003887.2	41	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS1661.1	122	MUTECT|MUSE	.	CATCGAGGAGG	NONE	.	.	Superfamily_domains:SSF103657,Gene3D:1.20.1270.60	.	.	ENSP00000281419	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000281419	Transcript	.	.	ENSG00000151693	2721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	deleterious(0)	.	ASAP2_HUMAN	ASAP2	HGNC	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN	.	UPI0000073459	SNV	ASAP2,missense_variant,p.Glu41Val,ENST00000281419,;ASAP2,missense_variant,p.Glu41Val,ENST00000315273,;	462	30	47	SUCCESS
ITPRIPL1	150771	.	GRCh37	2	96992598	96992598	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	121	0	ENST00000439118.2:c.229A>G	p.Thr77Ala	p.T77A	ENST00000439118	NM_001008949.2	77	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33250.1	253	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGACAGGA	NONE	.	.	hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF40	.	.	ENSP00000355121	.	1/1	.	.	.	.	.	.	.	.	COSM145524	1/1	PASS	ENST00000361124	Transcript	.	.	ENSG00000198885	29371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	tolerated(0.72)	1	IPIL1_HUMAN	ITPRIPL1	HGNC	F5H1L8_HUMAN,C9JNT4_HUMAN	.	UPI0000207C75	SNV	ITPRIPL1,missense_variant,p.Thr85Ala,ENST00000361124,;ITPRIPL1,missense_variant,p.Thr77Ala,ENST00000439118,;ITPRIPL1,missense_variant,p.Thr109Ala,ENST00000420728,;ITPRIPL1,missense_variant,p.Thr69Ala,ENST00000420176,;ITPRIPL1,missense_variant,p.Thr69Ala,ENST00000536814,;ITPRIPL1,missense_variant,p.Thr69Ala,ENST00000542887,;	664	121	129	SUCCESS
DPPA2	151871	.	GRCh37	3	109028174	109028174	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	67	0	ENST00000478945.1:c.185A>G	p.His62Arg	p.H62R	ENST00000478945	NM_138815.3	62	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2956.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATGACCT	NONE	.	.	hmmpanther:PTHR16073:SF7,hmmpanther:PTHR16073	.	.	ENSP00000417710	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000478945	Transcript	.	.	ENSG00000163530	19197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.29)	.	DPPA2_HUMAN	DPPA2	HGNC	.	.	UPI000007143F	SNV	DPPA2,missense_variant,p.His62Arg,ENST00000478945,;	432	67	104	SUCCESS
ILDR1	286676	.	GRCh37	3	121712594	121712594	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	17	158	0	ENST00000344209.5:c.1002A>T	p.Pro334=	p.P334=	ENST00000344209	NM_001199799.1	334	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS56271.1	1002	MUTECT|MUSE|VARSCANS	.	ATCAGTGGGGG	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3	.	.	ENSP00000345667	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000344209	Transcript	.	.	ENSG00000145103	28741	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ILDR1_HUMAN	ILDR1	HGNC	.	.	UPI00003FF1E2	SNV	ILDR1,synonymous_variant,p.%3D,ENST00000393631,;ILDR1,synonymous_variant,p.%3D,ENST00000273691,;ILDR1,synonymous_variant,p.%3D,ENST00000344209,;ILDR1,synonymous_variant,p.%3D,ENST00000462014,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;	1129	158	169	SUCCESS
EFCAB12	90288	.	GRCh37	3	129147317	129147317	+	synonymous_variant	Silent	SNP	A	A	G	rs762437291	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	32	216	1	ENST00000326085.3:c.15T>C	p.Tyr5=	p.Y5=	ENST00000326085		5	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS54638.1	15	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCATAGTC	NONE	.	.	.	.	.	ENSP00000420854	.	1/9	.	.	.	.	.	.	.	.	rs762437291	1/9	PASS	ENST00000505956	Transcript	.	.	ENSG00000172771	28061	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EFC12_HUMAN	EFCAB12	HGNC	.	.	UPI00001C1DE1	SNV	EFCAB12,start_lost,p.Met1?,ENST00000503957,;EFCAB12,synonymous_variant,p.%3D,ENST00000505956,;EFCAB12,synonymous_variant,p.%3D,ENST00000326085,;MBD4,downstream_gene_variant,,ENST00000393278,;MBD4,downstream_gene_variant,,ENST00000503197,;MBD4,downstream_gene_variant,,ENST00000249910,;MBD4,downstream_gene_variant,,ENST00000429544,;MBD4,downstream_gene_variant,,ENST00000507208,;MBD4,downstream_gene_variant,,ENST00000515266,;MBD4,downstream_gene_variant,,ENST00000509828,;MBD4,downstream_gene_variant,,ENST00000511009,;	178	217	234	SUCCESS
ACAD11	84129	.	GRCh37	3	132297694	132297694	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1039377839	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	70	0	ENST00000264990.6:c.1720A>G	p.Met574Val	p.M574V	ENST00000264990	NM_032169.4	574	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS3074.1	1720	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATGGGAA	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF195,Gene3D:2.40.110.10,Superfamily_domains:SSF56645	.	.	ENSP00000264990	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.11)	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,missense_variant,p.Met574Val,ENST00000264990,;ACAD11,missense_variant,p.Met99Val,ENST00000545291,;ACAD11,intron_variant,,ENST00000355458,;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,3_prime_UTR_variant,,ENST00000485198,;ACAD11,3_prime_UTR_variant,,ENST00000510100,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000477604,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,downstream_gene_variant,,ENST00000487024,;	2692	70	60	SUCCESS
A4GNT	51146	.	GRCh37	3	137843669	137843669	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376190351	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	124	0	ENST00000236709.3:c.460C>T	p.Arg154Cys	p.R154C	ENST00000236709	NM_016161.2	154	Cgc/Tgc	0	T:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS3097.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGGGATG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53448,Pfam_domain:PF04488,hmmpanther:PTHR12042:SF16,hmmpanther:PTHR12042	.	T:0	ENSP00000236709	.	3/3	.	.	.	.	.	.	.	.	rs376190351,COSM268542	3/3	PASS	ENST00000236709	Transcript	.	.	ENSG00000118017	17968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	A4GCT_HUMAN	A4GNT	HGNC	.	.	UPI000003FF93	SNV	A4GNT,missense_variant,p.Arg154Cys,ENST00000236709,;	662	124	122	SUCCESS
ATP1B3	483	.	GRCh37	3	141632520	141632520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	92	0	ENST00000286371.3:c.373C>A	p.Leu125Ile	p.L125I	ENST00000286371	NM_001679.2	125	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3121.1	373	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCTCACA	NONE	.	.	hmmpanther:PTHR11523,hmmpanther:PTHR11523:SF14,Pfam_domain:PF00287,Gene3D:2zxeB02,TIGRFAM_domain:TIGR01107	.	.	ENSP00000286371	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000286371	Transcript	.	.	ENSG00000069849	806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.869)	.	tolerated(0.4)	.	AT1B3_HUMAN	ATP1B3	HGNC	Q58I18_HUMAN,C9JA36_HUMAN	.	UPI0000000CBB	SNV	ATP1B3,missense_variant,p.Leu125Ile,ENST00000286371,;ATP1B3,missense_variant,p.Leu111Ile,ENST00000495216,;ATP1B3,missense_variant,p.Leu111Ile,ENST00000539728,;ATP1B3,missense_variant,p.Leu68Ile,ENST00000475483,;ATP1B3,intron_variant,,ENST00000462082,;ATP1B3-AS1,downstream_gene_variant,,ENST00000492725,;ATP1B3,3_prime_UTR_variant,,ENST00000466678,;ATP1B3,3_prime_UTR_variant,,ENST00000465172,;ATP1B3,non_coding_transcript_exon_variant,,ENST00000482635,;ATP1B3,upstream_gene_variant,,ENST00000487199,;	561	92	109	SUCCESS
SLC9A9	285195	.	GRCh37	3	143292967	143292967	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	331	60	342	1	ENST00000316549.6:c.963G>A	p.Trp321Ter	p.W321*	ENST00000316549	NM_173653.3	321	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS33872.1	963	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCCAAGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000320246	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000316549	Transcript	.	.	ENSG00000181804	20653	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SL9A9_HUMAN	SLC9A9	HGNC	.	.	UPI0000074664	SNV	SLC9A9,stop_gained,p.Trp321Ter,ENST00000316549,;SLC9A9,non_coding_transcript_exon_variant,,ENST00000483124,;	1172	343	391	SUCCESS
PLSCR5	389158	.	GRCh37	3	146318107	146318107	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	41	0	ENST00000443512.1:c.157A>T	p.Ser53Cys	p.S53C	ENST00000443512	NM_001085420.1	53	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS46931.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACTGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF25,Pfam_domain:PF03803	.	.	ENSP00000390111	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000443512	Transcript	.	.	ENSG00000231213	19952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.02)	.	PLS5_HUMAN	PLSCR5	HGNC	.	.	UPI0000425F34	SNV	PLSCR5,missense_variant,p.Ser53Cys,ENST00000492200,;PLSCR5,missense_variant,p.Ser53Cys,ENST00000443512,;PLSCR5,splice_region_variant,,ENST00000482567,;	1161	41	42	SUCCESS
SIAH2	6478	.	GRCh37	3	150460068	150460068	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	292	42	300	1	ENST00000312960.3:c.835A>G	p.Thr279Ala	p.T279A	ENST00000312960	NM_005067.5	279	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3152.1	835	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGTGGCCT	BUFFER|p.R281H|c.842G>A|3	.	.	hmmpanther:PTHR10315:SF11,hmmpanther:PTHR10315,Pfam_domain:PF03145,Gene3D:2.60.210.10,Superfamily_domains:SSF49599	.	.	ENSP00000322457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312960	Transcript	.	.	ENSG00000181788	10858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.06)	.	SIAH2_HUMAN	SIAH2	HGNC	C9J9D7_HUMAN	.	UPI0000071280	SNV	SIAH2,missense_variant,p.Thr279Ala,ENST00000312960,;SIAH2,downstream_gene_variant,,ENST00000482706,;	1363	301	334	SUCCESS
HACL1	26061	.	GRCh37	3	15613198	15613198	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	54	0	ENST00000321169.5:c.1072A>T	p.Lys358Ter	p.K358*	ENST00000321169	NM_012260.2	358	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2627.1	1072	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCATTT	NONE	.	.	hmmpanther:PTHR18968:SF6,hmmpanther:PTHR18968,Gene3D:3.40.50.1220,Superfamily_domains:SSF52467	.	.	ENSP00000323811	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000321169	Transcript	.	.	ENSG00000131373	17856	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HACL1_HUMAN	HACL1	HGNC	.	.	UPI000012CB25	SNV	HACL1,stop_gained,p.Lys331Ter,ENST00000456194,;HACL1,stop_gained,p.Lys117Ter,ENST00000435217,;HACL1,stop_gained,p.Lys276Ter,ENST00000451445,;HACL1,stop_gained,p.Lys358Ter,ENST00000321169,;HACL1,intron_variant,,ENST00000457447,;HACL1,3_prime_UTR_variant,,ENST00000422591,;HACL1,3_prime_UTR_variant,,ENST00000383779,;	1440	54	42	SUCCESS
VEPH1	79674	.	GRCh37	3	157188168	157188168	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs565482063	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	21	131	0	ENST00000362010.2:c.289T>A	p.Phe97Ile	p.F97I	ENST00000362010	NM_001167912.1	97	Ttt/Att	0	.	G:0	.	G:0.0014	.	T	F/I	protein_coding	YES	CCDS3179.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAAGGGTC	NONE	by1000G	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Superfamily_domains:SSF48371	G:0	.	ENSP00000354919	G:0	3/14	.	.	.	.	.	.	.	.	rs565482063	3/14	PASS	ENST00000362010	Transcript	.	G:0.0002	ENSG00000197415	25735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	G:0	deleterious(0.03)	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,missense_variant,p.Phe97Ile,ENST00000537559,;VEPH1,missense_variant,p.Phe97Ile,ENST00000392833,;VEPH1,missense_variant,p.Phe97Ile,ENST00000362010,;VEPH1,missense_variant,p.Phe97Ile,ENST00000392832,;VEPH1,missense_variant,p.Phe97Ile,ENST00000543418,;VEPH1,missense_variant,p.Phe97Ile,ENST00000494677,;VEPH1,missense_variant,p.Phe97Ile,ENST00000487753,;VEPH1,missense_variant,p.Phe97Ile,ENST00000468233,;VEPH1,5_prime_UTR_variant,,ENST00000479987,;VEPH1,downstream_gene_variant,,ENST00000461299,;VEPH1,downstream_gene_variant,,ENST00000489602,;VEPH1,non_coding_transcript_exon_variant,,ENST00000490235,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482434,;VEPH1,downstream_gene_variant,,ENST00000475050,;VEPH1,downstream_gene_variant,,ENST00000473907,;	597	131	140	SUCCESS
VEPH1	79674	.	GRCh37	3	157188169	157188169	+	synonymous_variant	Silent	SNP	G	G	T	rs751228313	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	19	130	0	ENST00000362010.2:c.288C>A	p.Pro96=	p.P96=	ENST00000362010	NM_001167912.1	96	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3179.1	288	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGGGTCT	NONE	byFrequency	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Superfamily_domains:SSF48371	.	.	ENSP00000354919	.	3/14	.	.	.	.	.	.	.	.	rs751228313	3/14	PASS	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,synonymous_variant,p.%3D,ENST00000537559,;VEPH1,synonymous_variant,p.%3D,ENST00000392833,;VEPH1,synonymous_variant,p.%3D,ENST00000362010,;VEPH1,synonymous_variant,p.%3D,ENST00000392832,;VEPH1,synonymous_variant,p.%3D,ENST00000543418,;VEPH1,synonymous_variant,p.%3D,ENST00000494677,;VEPH1,synonymous_variant,p.%3D,ENST00000487753,;VEPH1,synonymous_variant,p.%3D,ENST00000468233,;VEPH1,5_prime_UTR_variant,,ENST00000479987,;VEPH1,downstream_gene_variant,,ENST00000461299,;VEPH1,downstream_gene_variant,,ENST00000489602,;VEPH1,non_coding_transcript_exon_variant,,ENST00000490235,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482434,;VEPH1,downstream_gene_variant,,ENST00000475050,;VEPH1,downstream_gene_variant,,ENST00000473907,;	596	130	137	SUCCESS
TBC1D5	9779	.	GRCh37	3	17349528	17349528	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	199	0	ENST00000253692.7:c.1094T>C	p.Val365Ala	p.V365A	ENST00000253692	NM_014744.2	365	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS46770.1	1094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTACTAAA	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF220,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000402935	.	15/24	.	.	.	.	.	.	.	.	COSM3373085	15/24	PASS	ENST00000446818	Transcript	.	.	ENSG00000131374	19166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.973)	.	deleterious(0)	1	TBCD5_HUMAN	TBC1D5	HGNC	F2Z3C3_HUMAN,C9K0P2_HUMAN,C9JWX0_HUMAN,C9JW04_HUMAN,C9JNM0_HUMAN,C9JMP7_HUMAN,C9JIU4_HUMAN,C9JED7_HUMAN,C9JDR8_HUMAN,C9J397_HUMAN	.	UPI00017E10F6	SNV	TBC1D5,missense_variant,p.Val317Ala,ENST00000429924,;TBC1D5,missense_variant,p.Val365Ala,ENST00000446818,;TBC1D5,missense_variant,p.Val365Ala,ENST00000429383,;TBC1D5,missense_variant,p.Val365Ala,ENST00000253692,;TBC1D5,non_coding_transcript_exon_variant,,ENST00000414318,;	1358	199	171	SUCCESS
MUC20	200958	.	GRCh37	3	195452975	195452978	+	frameshift_variant	Frame_Shift_Del	DEL	CCCA	CCCA	-	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	CCCA	CCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	285	42	284	0	ENST00000447234.2:c.1502_1505del	p.Pro501LeufsTer9	p.P501Lfs*9	ENST00000447234	NM_001282506.1	501	CCCAct/ct	0	.	.	.	.	.	-	PT/X	protein_coding	YES	CCDS63877.1	1501-1504	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACTCCCCACTAAC	BUFFER|p.A505T|c.1513G>A|5	.	.	.	.	.	ENSP00000414350	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	deletion	MUC20,frameshift_variant,p.Pro466LeufsTer9,ENST00000445522,;MUC20,frameshift_variant,p.Pro501LeufsTer9,ENST00000447234,;MUC20,frameshift_variant,p.Pro330LeufsTer9,ENST00000320736,;MUC20,frameshift_variant,p.Pro501LeufsTer9,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000594976,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,upstream_gene_variant,,ENST00000498018,;	1627-1630	284	327	SUCCESS
ZNF445	353274	.	GRCh37	3	44492403	44492403	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	101	0	ENST00000396077.2:c.650G>A	p.Gly217Glu	p.G217E	ENST00000396077	NM_181489.5	217	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS2713.1	650	MUTECT|MUSE	.	GGTCTCCCGGG	NONE	.	.	hmmpanther:PTHR24385:SF48,hmmpanther:PTHR24385	.	.	ENSP00000413073	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000425708	Transcript	.	.	ENSG00000185219	21018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.931)	.	tolerated(0.32)	.	ZN445_HUMAN	ZNF445	HGNC	B7ZKX2_HUMAN	.	UPI000019AD12	SNV	ZNF445,missense_variant,p.Gly217Glu,ENST00000425708,;ZNF445,missense_variant,p.Gly217Glu,ENST00000396077,;ZNF445,non_coding_transcript_exon_variant,,ENST00000460529,;ZNF445,downstream_gene_variant,,ENST00000474600,;	992	101	104	SUCCESS
ERC2	26059	.	GRCh37	3	56468548	56468548	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	123	0	ENST00000288221.6:c.488T>A	p.Leu163His	p.L163H	ENST00000288221	NM_015576.1	163	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS46851.1	488	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGGTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Pfam_domain:PF10174	.	.	ENSP00000288221	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0.03)	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,missense_variant,p.Leu163His,ENST00000288221,;ERC2,non_coding_transcript_exon_variant,,ENST00000477381,;ERC2,downstream_gene_variant,,ENST00000472917,;ERC2,missense_variant,p.Leu163His,ENST00000460849,;	744	123	137	SUCCESS
ADH5	128	.	GRCh37	4	100003145	100003146	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	182	28	189	0	ENST00000296412.8:c.236dup	p.Val80SerfsTer3	p.V80Sfs*3	ENST00000296412	NM_000671.3	79	gga/ggGa	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS47111.1	236-237	INDELOCATOR*|VARSCANI*|PINDEL	.	GTAACTCCCTC	NONE	.	.	hmmpanther:PTHR11695:SF396,hmmpanther:PTHR11695,PROSITE_patterns:PS00059,Pfam_domain:PF08240,Gene3D:3.90.180.10,TIGRFAM_domain:TIGR02818,Superfamily_domains:SSF50129	.	.	ENSP00000296412	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000296412	Transcript	.	.	ENSG00000197894	253	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADHX_HUMAN	ADH5	HGNC	Q6IRT1_HUMAN,D6RFE4_HUMAN	.	UPI0000000DE6	insertion	ADH5,frameshift_variant,p.Val80SerfsTer3,ENST00000296412,;ADH5,splice_region_variant,,ENST00000503130,;ADH5,non_coding_transcript_exon_variant,,ENST00000508146,;ADH5,non_coding_transcript_exon_variant,,ENST00000512991,;ADH5,upstream_gene_variant,,ENST00000512604,;ADH5,frameshift_variant,p.Val80SerfsTer3,ENST00000502590,;ADH5,frameshift_variant,p.Val80SerfsTer3,ENST00000505652,;ADH5,3_prime_UTR_variant,,ENST00000502386,;ADH5,non_coding_transcript_exon_variant,,ENST00000507102,;ADH5,non_coding_transcript_exon_variant,,ENST00000512621,;ADH5,non_coding_transcript_exon_variant,,ENST00000508511,;ADH5,intron_variant,,ENST00000512659,;	287-288	189	210	SUCCESS
GUCY1B3	0	.	GRCh37	4	156696144	156696144	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	35	0	ENST00000264424.8:c.102A>T	p.Glu34Asp	p.E34D	ENST00000264424	NM_000857.2	34	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47154.1	102	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAGGACA	NONE	.	.	hmmpanther:PTHR11920:SF30,hmmpanther:PTHR11920,Gene3D:3sj5A00,Pfam_domain:PF07700,Superfamily_domains:SSF111126	.	.	ENSP00000264424	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	tolerated(0.17)	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,missense_variant,p.Glu34Asp,ENST00000503520,;GUCY1B3,missense_variant,p.Glu34Asp,ENST00000264424,;GUCY1B3,missense_variant,p.Glu34Asp,ENST00000502959,;GUCY1B3,missense_variant,p.Glu14Asp,ENST00000505764,;GUCY1B3,5_prime_UTR_variant,,ENST00000513437,;GUCY1B3,5_prime_UTR_variant,,ENST00000507146,;GUCY1B3,5_prime_UTR_variant,,ENST00000505154,;	184	35	26	SUCCESS
GUCY1B3	0	.	GRCh37	4	156726268	156726268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	30	161	0	ENST00000264424.8:c.1723C>A	p.Pro575Thr	p.P575T	ENST00000264424	NM_000857.2	575	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47154.1	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCCAGAA	NONE	.	.	hmmpanther:PTHR11920:SF30,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000264424	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.13)	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,missense_variant,p.Pro542Thr,ENST00000503520,;GUCY1B3,missense_variant,p.Pro507Thr,ENST00000513437,;GUCY1B3,missense_variant,p.Pro575Thr,ENST00000264424,;GUCY1B3,missense_variant,p.Pro597Thr,ENST00000502959,;GUCY1B3,missense_variant,p.Pro550Thr,ENST00000507146,;GUCY1B3,missense_variant,p.Pro555Thr,ENST00000505764,;GUCY1B3,missense_variant,p.Pro507Thr,ENST00000505154,;	1805	161	171	SUCCESS
SPOCK3	50859	.	GRCh37	4	168155168	168155168	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	23	128	0	ENST00000357154.3:c.157A>T	p.Lys53Ter	p.K53*	ENST00000357154	NM_016950.2	53	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS54817.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTTGTCAT	NONE	.	.	hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4	.	.	ENSP00000349677	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,stop_gained,p.Lys53Ter,ENST00000512648,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000512042,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000357154,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511531,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000357545,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000506886,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000510403,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511269,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000510741,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000509854,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000506697,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000541637,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000512681,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000502330,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000504953,;SPOCK3,synonymous_variant,p.%3D,ENST00000534949,;SPOCK3,5_prime_UTR_variant,,ENST00000421836,;SPOCK3,5_prime_UTR_variant,,ENST00000535728,;SPOCK3,5_prime_UTR_variant,,ENST00000541354,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000507086,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000502821,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511905,;SPOCK3,stop_gained,p.Lys17Ter,ENST00000515143,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000505187,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000515316,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000502741,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000507370,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511226,;	295	128	127	SUCCESS
RBPJ	3516	.	GRCh37	4	26426076	26426076	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762929152	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	57	0	ENST00000342295.1:c.648G>T	p.Gln216His	p.Q216H	ENST00000342295	NM_005349.3	216	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS3437.1	648	MUTECT|MUSE|VARSCANS	.	CAGCAGTGGGG	NONE	byFrequency	.	Superfamily_domains:0049692,Pfam_domain:PF09270,Gene3D:2.80.10.50,hmmpanther:PTHR10665:SF3,hmmpanther:PTHR10665	.	.	ENSP00000345206	.	7/12	.	.	.	.	.	.	.	.	rs762929152,COSM3767832,COSM3767831	7/12	PASS	ENST00000342295	Transcript	1	.	ENSG00000168214	5724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	probably_damaging(0.958)	.	deleterious(0.03)	0,1,1	SUH_HUMAN	RBPJ	HGNC	D6RBQ8_HUMAN,D6RB37_HUMAN,D6RA45_HUMAN,D6R946_HUMAN	.	UPI000020BDF1	SNV	RBPJ,missense_variant,p.Gln201His,ENST00000345843,;RBPJ,missense_variant,p.Gln216His,ENST00000342295,;RBPJ,missense_variant,p.Gln216His,ENST00000361572,;RBPJ,missense_variant,p.Gln181His,ENST00000515573,;RBPJ,missense_variant,p.Gln202His,ENST00000355476,;RBPJ,missense_variant,p.Gln181His,ENST00000507561,;RBPJ,missense_variant,p.Gln203His,ENST00000348160,;RBPJ,missense_variant,p.Gln202His,ENST00000504907,;RBPJ,missense_variant,p.Gln202His,ENST00000342320,;RBPJ,upstream_gene_variant,,ENST00000504423,;RBPJ,downstream_gene_variant,,ENST00000514730,;RBPJ,downstream_gene_variant,,ENST00000511546,;RBPJ,downstream_gene_variant,,ENST00000504938,;RBPJ,downstream_gene_variant,,ENST00000507574,;RBPJ,downstream_gene_variant,,ENST00000510778,;RBPJ,downstream_gene_variant,,ENST00000514675,;RBPJ,downstream_gene_variant,,ENST00000512671,;RBPJ,non_coding_transcript_exon_variant,,ENST00000514380,;RBPJ,non_coding_transcript_exon_variant,,ENST00000506903,;RBPJ,downstream_gene_variant,,ENST00000511451,;RBPJ,upstream_gene_variant,,ENST00000510725,;	884	57	75	SUCCESS
HTT	3064	.	GRCh37	4	3179109	3179109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	55	0	ENST00000355072.5:c.4458G>T	p.Gln1486His	p.Q1486H	ENST00000355072	NM_002111.6	1486	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS43206.1	4458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGTTCAG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Prints_domain:PR00375	.	.	ENSP00000347184	.	34/67	.	.	.	.	.	.	.	.	.	34/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Gln1486His,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000509618,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000509043,;HTT,upstream_gene_variant,,ENST00000513639,;HTT,upstream_gene_variant,,ENST00000513326,;	4603	55	50	SUCCESS
AASDH	132949	.	GRCh37	4	57216008	57216008	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	140	0	ENST00000205214.6:c.1909A>G	p.Thr637Ala	p.T637A	ENST00000205214	NM_181806.2	637	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3504.1	1909	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTCACAT	NONE	.	.	hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.78)	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,missense_variant,p.Thr152Ala,ENST00000434343,;AASDH,missense_variant,p.Thr484Ala,ENST00000602986,;AASDH,missense_variant,p.Thr637Ala,ENST00000451613,;AASDH,missense_variant,p.Thr637Ala,ENST00000205214,;AASDH,missense_variant,p.Thr637Ala,ENST00000502617,;AASDH,missense_variant,p.Thr537Ala,ENST00000513376,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,3_prime_UTR_variant,,ENST00000514745,;	2090	140	129	SUCCESS
MUC7	4589	.	GRCh37	4	71346647	71346647	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	27	150	0	ENST00000304887.5:c.186C>T	p.Ser62=	p.S62=	ENST00000304887	NM_152291.2	62	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3541.1	186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCTATAA	NONE	.	.	.	.	.	ENSP00000407422	.	4/4	.	.	.	.	.	.	.	.	COSM3940929,COSM1430779	4/4	PASS	ENST00000413702	Transcript	1	.	ENSG00000171195	7518	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	MUC7_HUMAN	MUC7	HGNC	D6RHX1_HUMAN	.	UPI000013E9DD	SNV	MUC7,synonymous_variant,p.%3D,ENST00000413702,;MUC7,synonymous_variant,p.%3D,ENST00000505411,;MUC7,synonymous_variant,p.%3D,ENST00000456088,;MUC7,synonymous_variant,p.%3D,ENST00000304887,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,non_coding_transcript_exon_variant,,ENST00000504482,;	474	151	147	SUCCESS
UNC5C	8633	.	GRCh37	4	96127921	96127921	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	83	0	ENST00000453304.1:c.1760T>C	p.Leu587Pro	p.L587P	ENST00000453304	NM_003728.3	587	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3643.1	1760	MUTECT|MUSE	.	TCAAAAGTGTC	NONE	.	.	SMART_domains:SM00218,Pfam_domain:PF00791,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,PROSITE_profiles:PS51145	.	.	ENSP00000406022	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000453304	Transcript	.	.	ENSG00000182168	12569	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	UNC5C_HUMAN	UNC5C	HGNC	Q4W5H4_HUMAN	.	UPI000004E6A5	SNV	UNC5C,missense_variant,p.Leu606Pro,ENST00000513796,;UNC5C,missense_variant,p.Leu587Pro,ENST00000453304,;	2109	83	65	SUCCESS
PCDHA2	56146	.	GRCh37	5	140175547	140175547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	29	169	0	ENST00000526136.1:c.998A>T	p.His333Leu	p.H333L	ENST00000526136	NM_018905.2	333	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS54914.1	998	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACATTGTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious_low_confidence(0)	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,missense_variant,p.His333Leu,ENST00000378132,;PCDHA2,missense_variant,p.His333Leu,ENST00000526136,;PCDHA2,missense_variant,p.His333Leu,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;	998	169	192	SUCCESS
FAM196B	0	.	GRCh37	5	169309899	169309899	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	20	131	0	ENST00000377365.3:c.1004A>G	p.Asn335Ser	p.N335S	ENST00000377365	NM_001129891.1	335	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS47336.1	1004	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGATTGTTA	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000366582	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000377365	Transcript	.	.	ENSG00000204767	37271	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.3)	.	F196B_HUMAN	FAM196B	HGNC	.	.	UPI0000480500	SNV	FAM196B,missense_variant,p.Asn335Ser,ENST00000377365,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000256935,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	2386	131	148	SUCCESS
TLX3	30012	.	GRCh37	5	170738472	170738472	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	35	213	0	ENST00000296921.5:c.745C>T	p.Gln249Ter	p.Q249*	ENST00000296921	NM_021025.2	249	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34288.1	745	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCAAAAG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	.	.	ENSP00000296921	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,stop_gained,p.Gln249Ter,ENST00000296921,;	827	213	285	SUCCESS
KIAA1191	57179	.	GRCh37	5	175774612	175774612	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	26	0	ENST00000298569.4:c.909T>A	p.Thr303=	p.T303=	ENST00000298569	NM_020444.3	303	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4399.1	909	MUTECT|MUSE	.	AAGCCAGTGGG	NONE	.	.	Pfam_domain:PF15302	.	.	ENSP00000298569	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000298569	Transcript	.	.	ENSG00000122203	29209	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P33MX_HUMAN	KIAA1191	HGNC	D6RF63_HUMAN,D6RCE3_HUMAN,D6RAJ7_HUMAN	.	UPI0000070560	SNV	KIAA1191,synonymous_variant,p.%3D,ENST00000393725,;KIAA1191,synonymous_variant,p.%3D,ENST00000510164,;KIAA1191,synonymous_variant,p.%3D,ENST00000298569,;KIAA1191,downstream_gene_variant,,ENST00000506983,;SIMC1,downstream_gene_variant,,ENST00000443967,;KIAA1191,downstream_gene_variant,,ENST00000533553,;SIMC1,downstream_gene_variant,,ENST00000430704,;SIMC1,downstream_gene_variant,,ENST00000332772,;SIMC1,downstream_gene_variant,,ENST00000341199,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000393728,;	1443	26	29	SUCCESS
RAI14	26064	.	GRCh37	5	34823722	34823722	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1174338142	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	115	0	ENST00000265109.3:c.1775A>C	p.Lys592Thr	p.K592T	ENST00000265109	NM_015577.2	592	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS54839.1	1784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGGAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24129	.	.	ENSP00000427123	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	deleterious(0)	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,missense_variant,p.Lys584Thr,ENST00000506376,;RAI14,missense_variant,p.Lys592Thr,ENST00000265109,;RAI14,missense_variant,p.Lys585Thr,ENST00000397449,;RAI14,missense_variant,p.Lys595Thr,ENST00000515799,;RAI14,missense_variant,p.Lys592Thr,ENST00000428746,;RAI14,missense_variant,p.Lys563Thr,ENST00000512629,;RAI14,missense_variant,p.Lys592Thr,ENST00000503673,;RAI14,upstream_gene_variant,,ENST00000513772,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;	2276	115	138	SUCCESS
SLC9A3	6550	.	GRCh37	5	481703	481703	+	synonymous_variant	Silent	SNP	G	G	A	rs200474984	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	13	113	0	ENST00000264938.3:c.1494C>T	p.Ile498=	p.I498=	ENST00000264938	NM_004174.2	498	atC/atT	0	A:0.0002	.	.	.	.	A	I	protein_coding	YES	CCDS3855.1	1494	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGATCTG	NONE	byCluster	.	hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	.	A:0	ENSP00000264938	.	9/17	.	.	.	.	.	.	.	.	rs200474984,COSM3343123	9/17	PASS	ENST00000264938	Transcript	.	.	ENSG00000066230	11073	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	SL9A3_HUMAN	SLC9A3	HGNC	.	.	UPI000013D597	SNV	SLC9A3,synonymous_variant,p.%3D,ENST00000514375,;SLC9A3,synonymous_variant,p.%3D,ENST00000264938,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000431004,;SLC9A3,non_coding_transcript_exon_variant,,ENST00000507407,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;	1504	114	124	SUCCESS
HTR1A	3350	.	GRCh37	5	63256701	63256701	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	17	102	0	ENST00000323865.3:c.846G>A	p.Arg282=	p.R282=	ENST00000323865	NM_000524.3	282	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34168.1	846	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCCTCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Pfam_domain:PF00001,Prints_domain:PR00512	.	.	ENSP00000316244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323865	Transcript	1	.	ENSG00000178394	5286	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5HT1A_HUMAN	HTR1A	HGNC	Q5ZGX3_HUMAN,D6RA34_HUMAN	.	UPI0000124F1A	SNV	HTR1A,synonymous_variant,p.%3D,ENST00000323865,;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	1080	102	120	SUCCESS
PAPD4	0	.	GRCh37	5	78940987	78940987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	21	161	0	ENST00000453514.1:c.793C>T	p.Pro265Ser	p.P265S	ENST00000453514	NM_001114394.1	265	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4048.1	793	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGCCAATT	NONE	.	.	hmmpanther:PTHR12271,Gene3D:3.30.460.10,Superfamily_domains:SSF81301	.	.	ENSP00000397563	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000453514	Transcript	.	.	ENSG00000164329	26776	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLD2_HUMAN	PAPD4	HGNC	.	.	UPI000013E386	SNV	PAPD4,missense_variant,p.Pro261Ser,ENST00000423041,;PAPD4,missense_variant,p.Pro265Ser,ENST00000504233,;PAPD4,missense_variant,p.Pro265Ser,ENST00000453514,;PAPD4,missense_variant,p.Pro265Ser,ENST00000296783,;PAPD4,missense_variant,p.Pro265Ser,ENST00000428308,;PAPD4,upstream_gene_variant,,ENST00000504982,;PAPD4,upstream_gene_variant,,ENST00000513735,;PAPD4,non_coding_transcript_exon_variant,,ENST00000509227,;	1486	161	159	SUCCESS
TMEM14C	51522	.	GRCh37	6	10728899	10728899	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1282771288	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	67	0	ENST00000229563.5:c.226A>G	p.Met76Val	p.M76V	ENST00000229563	NM_016462.3	76	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS4514.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTATGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12668:SF4,hmmpanther:PTHR12668,Pfam_domain:PF03647	.	.	ENSP00000444561	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000541412	Transcript	.	.	ENSG00000111843	20952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	deleterious(0)	.	TM14C_HUMAN	TMEM14C	HGNC	.	.	UPI000003BBD6	SNV	TMEM14C,missense_variant,p.Met76Val,ENST00000541412,;TMEM14C,missense_variant,p.Met76Val,ENST00000229563,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000467415,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000466421,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000495549,;	611	67	75	SUCCESS
HLA-F-AS1	285830	.	GRCh37	6	29713506	29713506	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	59	0	ENST00000458236.1:n.95-2A>T		p.X32_splice	ENST00000458236		32		0	.	.	.	.	.	A	.	misc_RNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCTGGGGA	NONE	.	4642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000362420	Transcript	.	.	ENSG00000199290	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	Y_RNA	RFAM	.	.	.	SNV	Y_RNA,upstream_gene_variant,,ENST00000362420,;HLA-F-AS1,splice_acceptor_variant,,ENST00000458236,;HLA-F-AS1,intron_variant,,ENST00000399247,;MICE,splice_acceptor_variant,,ENST00000510438,;HCG9P5,upstream_gene_variant,,ENST00000435408,;IFITM4P,downstream_gene_variant,,ENST00000441380,;	.	59	57	SUCCESS
MSH5	4439	.	GRCh37	6	31726633	31726633	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	27	147	0	ENST00000375750.3:c.1307G>A	p.Ser436Asn	p.S436N	ENST00000375750	NM_172165.3	436	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS34410.1	1307	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGTGTCA	NONE	.	.	Superfamily_domains:SSF48334,SMART_domains:SM00533,Pfam_domain:PF05192,Pfam_domain:PF05190,hmmpanther:PTHR11361:SF20,hmmpanther:PTHR11361	.	.	ENSP00000364855	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000375703	Transcript	.	.	ENSG00000204410	7328	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	.	tolerated(0.56)	.	MSH5_HUMAN	MSH5	HGNC	Q5SSR2_HUMAN	.	UPI0000070722	SNV	MSH5,missense_variant,p.Ser110Asn,ENST00000395853,;MSH5,missense_variant,p.Ser453Asn,ENST00000375740,;MSH5,missense_variant,p.Ser436Asn,ENST00000375755,;MSH5,missense_variant,p.Ser436Asn,ENST00000375750,;MSH5,missense_variant,p.Ser453Asn,ENST00000534153,;MSH5,missense_variant,p.Ser278Asn,ENST00000450148,;MSH5,missense_variant,p.Ser453Asn,ENST00000375742,;MSH5,missense_variant,p.Ser436Asn,ENST00000375703,;MSH5,missense_variant,p.Ser135Asn,ENST00000431848,;SAPCD1,upstream_gene_variant,,ENST00000415669,;SAPCD1,upstream_gene_variant,,ENST00000425424,;MSH5,upstream_gene_variant,,ENST00000429846,;SAPCD1,upstream_gene_variant,,ENST00000433778,;RNU6-850P,upstream_gene_variant,,ENST00000516934,;MSH5,non_coding_transcript_exon_variant,,ENST00000468602,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000491552,;MSH5-SAPCD1,missense_variant,p.Ser453Asn,ENST00000493662,;MSH5,missense_variant,p.Ser436Asn,ENST00000423982,;MSH5,3_prime_UTR_variant,,ENST00000463144,;MSH5,non_coding_transcript_exon_variant,,ENST00000467319,;MSH5,non_coding_transcript_exon_variant,,ENST00000468136,;MSH5,upstream_gene_variant,,ENST00000494646,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000498473,;SAPCD1,upstream_gene_variant,,ENST00000494299,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000476085,;MSH5,upstream_gene_variant,,ENST00000484309,;MSH5,upstream_gene_variant,,ENST00000494458,;MSH5,downstream_gene_variant,,ENST00000497269,;	1362	147	197	SUCCESS
KIF6	221458	.	GRCh37	6	39607439	39607439	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	15	116	0	ENST00000287152.7:c.346G>A	p.Asp116Asn	p.D116N	ENST00000287152	NM_145027.4	116	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4844.1	346	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCACTGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115,PROSITE_profiles:PS50067	.	.	ENSP00000287152	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,missense_variant,p.Asp116Asn,ENST00000287152,;KIF6,missense_variant,p.Asp116Asn,ENST00000373215,;KIF6,missense_variant,p.Asp116Asn,ENST00000373216,;KIF6,missense_variant,p.Asp116Asn,ENST00000538893,;KIF6,missense_variant,p.Asp8Asn,ENST00000458470,;KIF6,downstream_gene_variant,,ENST00000482238,;	441	116	129	SUCCESS
LRFN2	57497	.	GRCh37	6	40360391	40360391	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	78	0	ENST00000338305.6:c.1661T>C	p.Met554Thr	p.M554T	ENST00000338305	NM_020737.1	554	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS34443.1	1661	RADIA|MUTECT|MUSE|VARSCANS	.	GCACCATGAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	.	ENSP00000345985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.782)	.	deleterious(0.01)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Met554Thr,ENST00000338305,;	2204	78	92	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47251729	47251729	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	101	0	ENST00000296861.2:c.1188A>T	p.Lys396Asn	p.K396N	ENST00000296861	NM_014452.4	396	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4921.1	1188	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATTTCTT	NONE	.	.	hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097,SMART_domains:SM00005,Prints_domain:PR01971	.	.	ENSP00000296861	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,missense_variant,p.Lys396Asn,ENST00000296861,;	1582	101	113	SUCCESS
CDYL	9425	.	GRCh37	6	4892439	4892439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	22	104	0	ENST00000328908.5:c.679C>A	p.Gln227Lys	p.Q227K	ENST00000328908		227	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS4491.2	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTCAGGAG	NONE	.	.	.	.	.	ENSP00000380718	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.22)	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,missense_variant,p.Gln41Lys,ENST00000449732,;CDYL,missense_variant,p.Gln41Lys,ENST00000343762,;CDYL,missense_variant,p.Gln173Lys,ENST00000397588,;CDYL,missense_variant,p.Gln227Lys,ENST00000328908,;CDYL,intron_variant,,ENST00000440139,;CDYL,non_coding_transcript_exon_variant,,ENST00000483019,;CDYL,intron_variant,,ENST00000472453,;CDYL,downstream_gene_variant,,ENST00000491864,;	866	104	118	SUCCESS
FBXO24	26261	.	GRCh37	7	100192090	100192090	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	98	0	ENST00000241071.6:c.878A>G	p.Lys293Arg	p.K293R	ENST00000241071	NM_033506.2	293	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5699.2	992	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAAGGTGT	NONE	.	.	hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000416558	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.292)	.	tolerated(0.08)	.	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,missense_variant,p.Lys279Arg,ENST00000360609,;FBXO24,missense_variant,p.Lys279Arg,ENST00000465843,;FBXO24,missense_variant,p.Lys331Arg,ENST00000427939,;FBXO24,missense_variant,p.Lys293Arg,ENST00000241071,;FBXO24,missense_variant,p.Lys281Arg,ENST00000468962,;FBXO24,downstream_gene_variant,,ENST00000466053,;FBXO24,downstream_gene_variant,,ENST00000461079,;PCOLCE-AS1,intron_variant,,ENST00000442166,;PCOLCE-AS1,intron_variant,,ENST00000544873,;FBXO24,downstream_gene_variant,,ENST00000498195,;FBXO24,3_prime_UTR_variant,,ENST00000488079,;FBXO24,downstream_gene_variant,,ENST00000474649,;	1004	98	110	SUCCESS
LHFPL3	375612	.	GRCh37	7	103969504	103969504	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	68	0	ENST00000424859.1:c.235A>G	p.Ser79Gly	p.S79G	ENST00000424859	NM_199000.2	79	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	.	277	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCAGCTTC	NONE	.	.	Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13	.	.	ENSP00000444350	.	1/5	.	.	.	.	.	.	.	.	COSM3831516,COSM3831517	1/5	PASS	ENST00000535008	Transcript	.	.	ENSG00000187416	6589	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.318)	.	tolerated(0.22)	1,1	.	LHFPL3	HGNC	F5GZM2_HUMAN	.	UPI0002065540	SNV	LHFPL3,missense_variant,p.Ser79Gly,ENST00000401970,;LHFPL3,missense_variant,p.Ser79Gly,ENST00000424859,;LHFPL3,missense_variant,p.Ser93Gly,ENST00000543266,;LHFPL3,missense_variant,p.Ser93Gly,ENST00000535008,;	401	68	59	SUCCESS
PODXL	5420	.	GRCh37	7	131195912	131195912	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs767012209	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	41	192	0	ENST00000378555.3:c.381A>C	p.Lys127Asn	p.K127N	ENST00000378555		127	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS34755.1	381	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTTTTTGT	NONE	.	.	PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067,Low_complexity_(Seg):seg	.	.	ENSP00000367817	.	2/9	.	.	.	.	.	.	.	.	rs767012209	2/9	PASS	ENST00000378555	Transcript	.	.	ENSG00000128567	9171	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	deleterious(0.02)	.	PODXL_HUMAN	PODXL	HGNC	.	.	UPI000042467C	SNV	PODXL,missense_variant,p.Lys127Asn,ENST00000537928,;PODXL,missense_variant,p.Lys127Asn,ENST00000322985,;PODXL,missense_variant,p.Lys127Asn,ENST00000378555,;PODXL,missense_variant,p.Lys129Asn,ENST00000541194,;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,missense_variant,p.Lys127Asn,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;	629	192	263	SUCCESS
KIAA1549	57670	.	GRCh37	7	138564336	138564336	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	21	0	ENST00000422774.1:c.4293T>C	p.Asp1431=	p.D1431=	ENST00000422774		1431	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS56513.1	4293	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTATCTCC	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	.	.	ENSP00000416040	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,synonymous_variant,p.%3D,ENST00000422774,;KIAA1549,synonymous_variant,p.%3D,ENST00000242365,;KIAA1549,synonymous_variant,p.%3D,ENST00000440172,;RNU6-1272P,upstream_gene_variant,,ENST00000362776,;	4342	21	23	SUCCESS
SAMD9	54809	.	GRCh37	7	92731170	92731170	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	132	0	ENST00000379958.2:c.4241A>G	p.Gln1414Arg	p.Q1414R	ENST00000379958	NM_017654.3	1414	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34680.1	4241	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGATCT	BUFFER|p.R1416*|c.4246C>T|4	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	COSM1550888	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.017)	.	tolerated(0.92)	1	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Gln1414Arg,ENST00000379958,;SAMD9,downstream_gene_variant,,ENST00000446617,;	4511	132	115	SUCCESS
CSMD3	114788	.	GRCh37	8	114389080	114389080	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	59	0	ENST00000297405.5:c.178+59826C>T		p.*60*	ENST00000297405	NM_198123.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	RADIA|MUTECT|VARSCANS	.	CCTCTGCCCCT	NONE	.	.	.	.	.	ENSP00000297405	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	1/70	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,5_prime_UTR_variant,,ENST00000343508,;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000455883,;CSMD3,intron_variant,,ENST00000297405,;CSMD3,intron_variant,,ENST00000497026,;CSMD3,intron_variant,,ENST00000493303,;RP11-709P2.1,non_coding_transcript_exon_variant,,ENST00000422478,;	.	59	44	SUCCESS
SCRIB	23513	.	GRCh37	8	144892681	144892681	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs759838353	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	18	97	0	ENST00000320476.3:c.1498C>G	p.Pro500Ala	p.P500A	ENST00000320476	NM_015356.4	500	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS6412.1	1498	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGCTGGC	NONE	byFrequency	.	.	.	.	ENSP00000349486	.	13/37	.	.	.	.	.	.	.	.	rs759838353	13/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.234)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Pro419Ala,ENST00000377533,;SCRIB,missense_variant,p.Pro500Ala,ENST00000356994,;SCRIB,missense_variant,p.Pro500Ala,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	1505	97	138	SUCCESS
MICU3	286097	.	GRCh37	8	16961997	16961997	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746832652	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	57	0	ENST00000318063.5:c.1082A>G	p.Tyr361Cys	p.Y361C	ENST00000318063	NM_181723.2	361	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5999.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATAGGT	NONE	.	.	hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF10,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Superfamily_domains:SSF47473	.	.	ENSP00000321455	.	10/15	.	.	.	.	.	.	.	.	rs746832652	10/15	PASS	ENST00000318063	Transcript	.	.	ENSG00000155970	27820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	tolerated(0.08)	.	MICU3_HUMAN	MICU3	HGNC	.	.	UPI000000DAE7	SNV	MICU3,missense_variant,p.Tyr206Cys,ENST00000519044,;MICU3,missense_variant,p.Tyr361Cys,ENST00000318063,;MICU3,non_coding_transcript_exon_variant,,ENST00000519866,;	1124	57	61	SUCCESS
PXDNL	137902	.	GRCh37	8	52339318	52339318	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	32	0	ENST00000356297.4:c.1526C>G	p.Ala509Gly	p.A509G	ENST00000356297	NM_144651.4	509	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS47855.1	1526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAGCTGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475	.	.	ENSP00000348645	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.23)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Ala509Gly,ENST00000543296,;PXDNL,missense_variant,p.Ala509Gly,ENST00000356297,;	1627	32	48	SUCCESS
EYA1	2138	.	GRCh37	8	72234031	72234031	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	261	33	254	0	ENST00000340726.3:c.356A>G	p.Gln119Arg	p.Q119R	ENST00000340726	NM_000503.4	119	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34906.1	356	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTGCATT	NONE	.	.	hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	6/18	.	.	.	.	.	.	.	.	COSM145384	6/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,missense_variant,p.Gln85Arg,ENST00000388741,;EYA1,missense_variant,p.Gln119Arg,ENST00000419131,;EYA1,missense_variant,p.Gln119Arg,ENST00000388742,;EYA1,missense_variant,p.Gln119Arg,ENST00000340726,;EYA1,missense_variant,p.Gln86Arg,ENST00000388740,;EYA1,missense_variant,p.Gln118Arg,ENST00000388743,;EYA1,missense_variant,p.Gln118Arg,ENST00000303824,;EYA1,missense_variant,p.Asn97Asp,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000422295,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	996	254	295	SUCCESS
ESRP1	54845	.	GRCh37	8	95676928	95676928	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	17	121	0	ENST00000433389.2:c.648C>T	p.Ser216=	p.S216=	ENST00000433389	NM_001034915.2	216	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47897.1	648	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCAAGAT	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37	.	.	ENSP00000405738	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,synonymous_variant,p.%3D,ENST00000433389,;ESRP1,synonymous_variant,p.%3D,ENST00000519505,;ESRP1,synonymous_variant,p.%3D,ENST00000517610,;ESRP1,synonymous_variant,p.%3D,ENST00000454170,;ESRP1,synonymous_variant,p.%3D,ENST00000423620,;ESRP1,synonymous_variant,p.%3D,ENST00000358397,;ESRP1,5_prime_UTR_variant,,ENST00000522756,;ESRP1,downstream_gene_variant,,ENST00000520385,;ESRP1,upstream_gene_variant,,ENST00000517556,;	838	121	166	SUCCESS
GAPVD1	26130	.	GRCh37	9	128118132	128118132	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	30	193	0	ENST00000394104.2:c.4021G>A	p.Asp1341Asn	p.D1341N	ENST00000394104	NM_001282679.1	1341	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS35138.1	4048	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGCGACCAG	NONE	.	.	PROSITE_profiles:PS51205,hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Superfamily_domains:0044157	.	.	ENSP00000377665	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,missense_variant,p.Asp1323Asn,ENST00000297933,;GAPVD1,missense_variant,p.Asp1296Asn,ENST00000470056,;GAPVD1,missense_variant,p.Asp1341Asn,ENST00000394104,;GAPVD1,missense_variant,p.Asp1350Asn,ENST00000394105,;GAPVD1,missense_variant,p.Asp1315Asn,ENST00000265956,;GAPVD1,missense_variant,p.Asp1275Asn,ENST00000394083,;GAPVD1,missense_variant,p.Asp1341Asn,ENST00000495955,;GAPVD1,missense_variant,p.Asp1302Asn,ENST00000312123,;GAPVD1,non_coding_transcript_exon_variant,,ENST00000467707,;GAPVD1,non_coding_transcript_exon_variant,,ENST00000474637,;	4208	193	200	SUCCESS
SH3GL2	6456	.	GRCh37	9	17789515	17789515	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	60	0	ENST00000380607.4:c.591T>A	p.Ala197=	p.A197=	ENST00000380607	NM_003026.2	197	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6483.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTGAGTC	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000369981	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000380607	Transcript	.	.	ENSG00000107295	10831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3G2_HUMAN	SH3GL2	HGNC	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN	.	UPI0000135933	SNV	SH3GL2,synonymous_variant,p.%3D,ENST00000380607,;SH3GL2,synonymous_variant,p.%3D,ENST00000537391,;	711	60	80	SUCCESS
TJP2	9414	.	GRCh37	9	71836182	71836182	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs943205124	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	45	0	ENST00000377245.4:c.722G>A	p.Arg241His	p.R241H	ENST00000377245	NM_004817.3	241	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS55316.1	815	MUTECT|MUSE	.	CAGCCGCGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13865:SF26,hmmpanther:PTHR13865	.	.	ENSP00000438262	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000539225	Transcript	.	.	ENSG00000119139	11828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.05)	.	ZO2_HUMAN	TJP2	HGNC	U3KQJ2_HUMAN,B1AN86_HUMAN	.	UPI0001C0B37F	SNV	TJP2,missense_variant,p.Arg245His,ENST00000535702,;TJP2,missense_variant,p.Arg241His,ENST00000348208,;TJP2,missense_variant,p.Arg218His,ENST00000453658,;TJP2,missense_variant,p.Arg241His,ENST00000377245,;TJP2,missense_variant,p.Arg241His,ENST00000265384,;TJP2,missense_variant,p.Arg272His,ENST00000539225,;TJP2,downstream_gene_variant,,ENST00000423935,;TJP2,downstream_gene_variant,,ENST00000377259,;TJP2,downstream_gene_variant,,ENST00000606364,;	815	45	59	SUCCESS
NOL8	55035	.	GRCh37	9	95077366	95077366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	89	0	ENST00000442668.2:c.1541C>T	p.Thr514Ile	p.T514I	ENST00000442668	NM_017948.5	514	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS47993.1	1541	MUTECT|MUSE	.	GGGTGGTGGTT	NONE	.	.	hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8	.	.	ENSP00000441140	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000545558	Transcript	.	.	ENSG00000198000	23387	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	deleterious(0.05)	.	NOL8_HUMAN	NOL8	HGNC	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN	.	UPI0000211A3D	SNV	NOL8,missense_variant,p.Thr514Ile,ENST00000545558,;NOL8,missense_variant,p.Thr446Ile,ENST00000358855,;NOL8,missense_variant,p.Thr514Ile,ENST00000442668,;NOL8,missense_variant,p.Thr514Ile,ENST00000535387,;NOL8,missense_variant,p.Thr446Ile,ENST00000542053,;NOL8,missense_variant,p.Thr514Ile,ENST00000432670,;NOL8,downstream_gene_variant,,ENST00000542613,;NOL8,downstream_gene_variant,,ENST00000433029,;NOL8,downstream_gene_variant,,ENST00000411621,;NOL8,downstream_gene_variant,,ENST00000536624,;NOL8,downstream_gene_variant,,ENST00000421075,;NOL8,downstream_gene_variant,,ENST00000535807,;NOL8,downstream_gene_variant,,ENST00000543985,;NOL8,missense_variant,p.Thr514Ile,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000434228,;NOL8,intron_variant,,ENST00000545444,;NOL8,downstream_gene_variant,,ENST00000542573,;NOL8,upstream_gene_variant,,ENST00000538802,;NOL8,downstream_gene_variant,,ENST00000543260,;NOL8,downstream_gene_variant,,ENST00000445919,;NOL8,downstream_gene_variant,,ENST00000467230,;	2034	89	75	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	104999216	104999216	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	35	133	0	ENST00000372582.1:c.1238A>G	p.Gln413Arg	p.Q413R	ENST00000372582	NM_017416.1	413	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS14517.1	1238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCAAGATA	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000361663	.	10/11	.	.	.	.	.	.	.	.	COSM4105555	10/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.334)	.	tolerated(0.25)	1	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,missense_variant,p.Gln413Arg,ENST00000344799,;IL1RAPL2,missense_variant,p.Gln413Arg,ENST00000372582,;IL1RAPL2,non_coding_transcript_exon_variant,,ENST00000485671,;	1994	133	151	SUCCESS
FAM45B	0	.	GRCh37	X	129629187	129629187	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1296376409	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	50	173	0	ENST00000592932.1:n.249G>A		p.*83*	ENST00000592932				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCGAAAAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	COSM3557825	.	PASS	ENST00000458525	Transcript	.	.	ENSG00000229702	.	.	.	LOW	6/11	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	RP1-274L7.1	Clone_based_vega_gene	.	.	.	SNV	RP1-274L7.1,splice_region_variant,,ENST00000458525,;FAM45B,non_coding_transcript_exon_variant,,ENST00000592932,;FAM45B,non_coding_transcript_exon_variant,,ENST00000408950,;FAM45B,upstream_gene_variant,,ENST00000539800,;	.	173	167	SUCCESS
GPR112	0	.	GRCh37	X	135431901	135431901	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	63	1	ENST00000370652.1:c.6036T>A	p.Ser2012=	p.S2012=	ENST00000370652		2012	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35409.1	6036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTAGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,synonymous_variant,p.%3D,ENST00000287534,;GPR112,synonymous_variant,p.%3D,ENST00000370652,;GPR112,synonymous_variant,p.%3D,ENST00000394143,;GPR112,synonymous_variant,p.%3D,ENST00000394141,;GPR112,synonymous_variant,p.%3D,ENST00000412101,;	6327	64	76	SUCCESS
IL1RAPL1	11141	.	GRCh37	X	29973747	29973747	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	72	0	ENST00000378993.1:c.1901C>T	p.Pro634Leu	p.P634L	ENST00000378993	NM_014271.3	634	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS14218.1	1901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCTACCG	NONE	.	.	.	.	.	ENSP00000368278	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000378993	Transcript	.	.	ENSG00000169306	5996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated_low_confidence(0.08)	.	IRPL1_HUMAN	IL1RAPL1	HGNC	Q7Z2H0_HUMAN	.	UPI000006D1BF	SNV	IL1RAPL1,missense_variant,p.Pro634Leu,ENST00000378993,;IL1RAPL1,missense_variant,p.Pro634Leu,ENST00000302196,;	2574	72	113	SUCCESS
AMER1	139285	.	GRCh37	X	63412208	63412208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	39	0	ENST00000330258.3:c.959A>T	p.Lys320Ile	p.K320I	ENST00000330258	NM_152424.3	320	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS14377.2	959	MUTECT|MUSE|VARSCANS	.	AGCTTTTCAGG	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0,Pfam_domain:PF09422	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Lys320Ile,ENST00000374869,;AMER1,missense_variant,p.Lys320Ile,ENST00000403336,;AMER1,missense_variant,p.Lys320Ile,ENST00000330258,;	1232	39	50	SUCCESS
CACNB2	783	.	GRCh37	10	18689927	18689927	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	74	0	ENST00000324631.7:c.214-926T>A		p.*72*	ENST00000324631	NM_201593.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7125.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGCAGC	NONE	.	.	.	.	.	ENSP00000320025	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000324631	Transcript	1	.	ENSG00000165995	1402	.	.	MODIFIER	2/13	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CACB2_HUMAN	CACNB2	HGNC	.	.	UPI00001AEA80	SNV	CACNB2,5_prime_UTR_variant,,ENST00000377315,;CACNB2,intron_variant,,ENST00000377328,;CACNB2,intron_variant,,ENST00000396576,;CACNB2,intron_variant,,ENST00000377329,;CACNB2,intron_variant,,ENST00000324631,;CACNB2,intron_variant,,ENST00000282343,;CACNB2,intron_variant,,ENST00000377331,;CACNB2,intron_variant,,ENST00000352115,;CACNB2,intron_variant,,ENST00000377319,;CACNB2,intron_variant,,ENST00000498816,;	.	74	61	SUCCESS
ANKRD26	22852	.	GRCh37	10	27356183	27356183	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	17	0	ENST00000376087.4:c.1110A>G	p.Lys370=	p.K370=	ENST00000376087	NM_014915.2	370	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS41499.1	1110	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTTTTT	NONE	.	.	hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	10/34	.	.	.	.	.	.	.	.	.	10/34	nonpreferredpair	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	SNV	ANKRD26,synonymous_variant,p.%3D,ENST00000376087,;ANKRD26,synonymous_variant,p.%3D,ENST00000436985,;ANKRD26,non_coding_transcript_exon_variant,,ENST00000473304,;	1276	17	25	SUCCESS
ITGB1	3688	.	GRCh37	10	33217025	33217025	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	55	0	ENST00000302278.3:c.544A>C	p.Ile182Leu	p.I182L	ENST00000302278	NM_002211.3	182	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS7174.1	544	MUTECT|MUSE	.	ACCAATTCTGA	NONE	.	.	Prints_domain:PR01186,Superfamily_domains:SSF53300,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Pfam_domain:PF00362,Gene3D:3.40.50.410,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28	.	.	ENSP00000379350	.	5/16	.	.	.	.	.	.	.	.	.	5/16	nonpreferredpair	ENST00000396033	Transcript	.	.	ENSG00000150093	6153	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.26)	.	deleterious(0)	.	ITB1_HUMAN	ITGB1	HGNC	Q5T3E6_HUMAN,Q5T3E5_HUMAN,Q5T3E4_HUMAN,E9PQJ2_HUMAN,E9PLR6_HUMAN,E7ERX5_HUMAN,E7EQW5_HUMAN,C9JPK5_HUMAN,C9JJP8_HUMAN	.	UPI0000070EEB	SNV	ITGB1,missense_variant,p.Ile182Leu,ENST00000396033,;ITGB1,missense_variant,p.Ile182Leu,ENST00000374956,;ITGB1,missense_variant,p.Ile182Leu,ENST00000302278,;ITGB1,missense_variant,p.Ile182Leu,ENST00000423113,;ITGB1,downstream_gene_variant,,ENST00000437302,;ITGB1,downstream_gene_variant,,ENST00000475184,;ITGB1,downstream_gene_variant,,ENST00000534049,;ITGB1,downstream_gene_variant,,ENST00000414670,;ITGB1,downstream_gene_variant,,ENST00000528877,;ITGB1,downstream_gene_variant,,ENST00000488494,;ITGB1,downstream_gene_variant,,ENST00000493758,;ITGB1,downstream_gene_variant,,ENST00000472147,;ITGB1,downstream_gene_variant,,ENST00000417122,;ITGB1,downstream_gene_variant,,ENST00000474568,;ITGB1,downstream_gene_variant,,ENST00000480226,;ITGB1,intron_variant,,ENST00000484088,;ITGB1,downstream_gene_variant,,ENST00000464001,;	680	55	48	SUCCESS
PCDH15	65217	.	GRCh37	10	55581783	55581783	+	synonymous_variant	Silent	SNP	A	A	G	rs1265145868	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	100	0	ENST00000320301.6:c.5703T>C	p.Ser1901=	p.S1901=	ENST00000320301	NM_033056.3	1901	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS44404.1	5709	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGACTGTA	NONE	.	.	.	.	.	ENSP00000354950	.	34/34	.	.	.	.	.	.	.	.	COSM1729620,COSM1729621	34/34	nonpreferredpair	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,synonymous_variant,p.%3D,ENST00000437009,;PCDH15,synonymous_variant,p.%3D,ENST00000395433,;PCDH15,synonymous_variant,p.%3D,ENST00000320301,;PCDH15,synonymous_variant,p.%3D,ENST00000395432,;PCDH15,synonymous_variant,p.%3D,ENST00000373957,;PCDH15,synonymous_variant,p.%3D,ENST00000361849,;PCDH15,synonymous_variant,p.%3D,ENST00000395430,;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	6104	100	65	SUCCESS
LDB3	11155	.	GRCh37	10	88452294	88452294	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	103	0	ENST00000361373.4:c.862C>A	p.Gln288Lys	p.Q288K	ENST00000361373	NM_007078.2	288	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS53550.1	1066	MUTECT|MUSE	.	CAGTGCAAGAC	NONE	.	.	hmmpanther:PTHR24214:SF9,hmmpanther:PTHR24214	.	.	ENSP00000401437	.	8/14	.	.	.	.	.	.	.	.	.	8/14	nonpreferredpair	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.358)	.	tolerated(0.08)	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,missense_variant,p.Gln356Lys,ENST00000372056,;LDB3,missense_variant,p.Gln241Lys,ENST00000372066,;LDB3,missense_variant,p.Gln288Lys,ENST00000361373,;LDB3,missense_variant,p.Gln241Lys,ENST00000458213,;LDB3,missense_variant,p.Gln288Lys,ENST00000310944,;LDB3,missense_variant,p.Gln356Lys,ENST00000429277,;LDB3,missense_variant,p.Gln241Lys,ENST00000263066,;LDB3,splice_region_variant,,ENST00000542786,;LDB3,intron_variant,,ENST00000352360,;	1211	103	121	SUCCESS
EXT2	2132	.	GRCh37	11	44255728	44255728	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772217310	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	29	147	0	ENST00000343631.3:c.1870A>G	p.Met624Val	p.M624V	ENST00000343631		624	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS53618.1	1969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCATATGAAC	NONE	byFrequency	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF09258,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF6	.	.	ENSP00000379032	.	12/14	.	.	.	.	.	.	.	.	rs772217310	12/14	nonpreferredpair	ENST00000395673	Transcript	.	.	ENSG00000151348	3513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.88)	.	deleterious(0.02)	.	EXT2_HUMAN	EXT2	HGNC	E9PNL9_HUMAN,E9PJA5_HUMAN	.	UPI0000EE3A5C	SNV	EXT2,missense_variant,p.Met634Val,ENST00000358681,;EXT2,missense_variant,p.Met624Val,ENST00000533608,;EXT2,missense_variant,p.Met657Val,ENST00000395673,;EXT2,missense_variant,p.Met624Val,ENST00000343631,;EXT2,non_coding_transcript_exon_variant,,ENST00000528159,;EXT2,downstream_gene_variant,,ENST00000531161,;	2025	147	177	SUCCESS
ALX4	60529	.	GRCh37	11	44289129	44289129	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368050443	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	28	111	0	ENST00000329255.3:c.821G>A	p.Arg274His	p.R274H	ENST00000329255	NM_021926.3	274	cGt/cAt	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS31468.1	821	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAACGCTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF285,Gene3D:1.10.10.60,SMART_domains:SM00389	.	T:0.0001	ENSP00000332744	.	3/4	.	.	.	.	.	.	.	.	rs368050443,COSM688131	3/4	nonpreferredpair	ENST00000329255	Transcript	.	.	ENSG00000052850	450	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.98)	.	deleterious(0)	0,1	ALX4_HUMAN	ALX4	HGNC	.	.	UPI000016A402	SNV	ALX4,missense_variant,p.Arg274His,ENST00000329255,;	925	111	181	SUCCESS
NR1H3	10062	.	GRCh37	11	47282864	47282864	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	26	171	0	ENST00000441012.2:c.572C>T	p.Ser191Phe	p.S191F	ENST00000441012	NM_005693.3	191	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS7929.1	572	RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCTTGC	NONE	.	.	hmmpanther:PTHR24082:SF259,hmmpanther:PTHR24082,Gene3D:1.10.565.10	.	.	ENSP00000420656	.	4/9	.	.	.	.	.	.	.	.	.	4/9	nonpreferredpair	ENST00000467728	Transcript	.	.	ENSG00000025434	7966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.121)	.	deleterious(0.01)	.	NR1H3_HUMAN	NR1H3	HGNC	F1D8N1_HUMAN,C9JTS4_HUMAN,C9JJ16_HUMAN,C9JEC2_HUMAN,C9JCS0_HUMAN,C9JBS2_HUMAN,C9J4R0_HUMAN,C9J2C8_HUMAN	.	UPI000013050C	SNV	NR1H3,missense_variant,p.Ser191Phe,ENST00000436029,;NR1H3,missense_variant,p.Ser146Phe,ENST00000395397,;NR1H3,missense_variant,p.Ser191Phe,ENST00000441012,;NR1H3,missense_variant,p.Ser191Phe,ENST00000449369,;NR1H3,missense_variant,p.Ser191Phe,ENST00000407404,;NR1H3,missense_variant,p.Ser191Phe,ENST00000467728,;NR1H3,missense_variant,p.Ser57Phe,ENST00000531660,;NR1H3,missense_variant,p.Ser100Phe,ENST00000527949,;NR1H3,missense_variant,p.Ser146Phe,ENST00000405576,;NR1H3,missense_variant,p.Ser191Phe,ENST00000444396,;NR1H3,missense_variant,p.Ser146Phe,ENST00000481889,;NR1H3,missense_variant,p.Ser191Phe,ENST00000436778,;NR1H3,missense_variant,p.Ser191Phe,ENST00000405853,;NR1H3,downstream_gene_variant,,ENST00000437276,;NR1H3,downstream_gene_variant,,ENST00000457932,;NR1H3,downstream_gene_variant,,ENST00000412937,;NR1H3,non_coding_transcript_exon_variant,,ENST00000525441,;NR1H3,non_coding_transcript_exon_variant,,ENST00000527464,;NR1H3,non_coding_transcript_exon_variant,,ENST00000529540,;NR1H3,intron_variant,,ENST00000532630,;NR1H3,downstream_gene_variant,,ENST00000495866,;NR1H3,downstream_gene_variant,,ENST00000461778,;NR1H3,downstream_gene_variant,,ENST00000530310,;NR1H3,downstream_gene_variant,,ENST00000473222,;NR1H3,downstream_gene_variant,,ENST00000476086,;NR1H3,3_prime_UTR_variant,,ENST00000420369,;NR1H3,non_coding_transcript_exon_variant,,ENST00000481020,;NR1H3,non_coding_transcript_exon_variant,,ENST00000487913,;NR1H3,downstream_gene_variant,,ENST00000486991,;NR1H3,downstream_gene_variant,,ENST00000498548,;NR1H3,downstream_gene_variant,,ENST00000419652,;NR1H3,downstream_gene_variant,,ENST00000483882,;	1810	171	185	SUCCESS
GLYATL2	219970	.	GRCh37	11	58602018	58602018	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	72	0	ENST00000287275.1:c.769T>G	p.Tyr257Asp	p.Y257D	ENST00000287275	NM_145016.3	257	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS41649.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATAAAATG	NONE	.	.	hmmpanther:PTHR15298:SF4,hmmpanther:PTHR15298,Pfam_domain:PF08444,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000287275	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000287275	Transcript	.	.	ENSG00000156689	24178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	GLYL2_HUMAN	GLYATL2	HGNC	.	.	UPI000003FFB7	SNV	GLYATL2,missense_variant,p.Tyr257Asp,ENST00000532258,;GLYATL2,missense_variant,p.Tyr257Asp,ENST00000287275,;GLYATL2,downstream_gene_variant,,ENST00000533636,;	1160	72	67	SUCCESS
PLA2G16	0	.	GRCh37	11	63365558	63365558	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	42	244	0	ENST00000323646.5:c.93A>G	p.Gly31=	p.G31=	ENST00000323646	NM_007069.3	31	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8047.1	93	RADIA|MUTECT|MUSE|VARSCANS	.	ACATATCCATC	NONE	.	.	hmmpanther:PTHR13943:SF33,hmmpanther:PTHR13943,Pfam_domain:PF04970	.	.	ENSP00000320337	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000323646	Transcript	.	.	ENSG00000176485	17825	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HRSL3_HUMAN	PLA2G16	HGNC	F5H7E5_HUMAN	.	UPI000012CBE4	SNV	PLA2G16,synonymous_variant,p.%3D,ENST00000323646,;PLA2G16,synonymous_variant,p.%3D,ENST00000415826,;PLA2G16,intron_variant,,ENST00000540943,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000544269,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;	448	244	247	SUCCESS
DCHS1	8642	.	GRCh37	11	6643111	6643111	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	13	95	0	ENST00000299441.3:c.9796C>T	p.Pro3266Ser	p.P3266S	ENST00000299441	NM_003737.2	3266	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7771.1	9796	RADIA|MUTECT|MUSE|VARSCANS	.	AACGGGTGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	nonpreferredpair	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Pro3266Ser,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,non_coding_transcript_exon_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	10208	95	113	SUCCESS
DAO	1610	.	GRCh37	12	109283310	109283310	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	83	0	ENST00000228476.3:c.375C>A	p.Phe125Leu	p.F125L	ENST00000228476	NM_001917.4	125	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS9122.1	375	MUTECT|MUSE|VARSCANS	.	ATGTTCCCAGA	BUFFER|p.G129C|c.385G>T|3	.	.	hmmpanther:PTHR11530:SF5,hmmpanther:PTHR11530,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,Superfamily_domains:SSF51971	.	.	ENSP00000228476	.	4/11	.	.	.	.	.	.	.	.	COSM1510773	4/11	nonpreferredpair	ENST00000228476	Transcript	.	.	ENSG00000110887	2671	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.833)	.	deleterious(0)	1	OXDA_HUMAN	DAO	HGNC	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN	.	UPI0000130F5F	SNV	DAO,missense_variant,p.Phe125Leu,ENST00000547166,;DAO,missense_variant,p.Phe2Leu,ENST00000547768,;DAO,missense_variant,p.Phe125Leu,ENST00000228476,;DAO,intron_variant,,ENST00000551281,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,intron_variant,,ENST00000549215,;	579	83	104	SUCCESS
RASAL1	8437	.	GRCh37	12	113573290	113573290	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	29	214	0	ENST00000261729.5:c.-23T>A		p.*8*	ENST00000261729				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55889.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGGCAG	NONE	.	.	.	.	.	ENSP00000450244	.	2/22	.	.	.	.	.	.	.	.	.	2/22	nonpreferredpair	ENST00000546530	Transcript	.	.	ENSG00000111344	9873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASL1_HUMAN	RASAL1	HGNC	.	.	UPI0001DD37FE	SNV	RASAL1,5_prime_UTR_variant,,ENST00000261729,;RASAL1,5_prime_UTR_variant,,ENST00000548055,;RASAL1,5_prime_UTR_variant,,ENST00000446861,;RASAL1,5_prime_UTR_variant,,ENST00000546530,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;	264	214	187	SUCCESS
WDR66	0	.	GRCh37	12	122396358	122396358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	15	118	0	ENST00000288912.4:c.1911C>A	p.Asn637Lys	p.N637K	ENST00000288912	NM_144668.5	637	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS41853.1	1911	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAACAAACA	BUFFER|p.L641I|c.1921C>A|3	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000288912	.	12/22	.	.	.	.	.	.	.	.	.	12/22	nonpreferredpair	ENST00000288912	Transcript	.	.	ENSG00000158023	28506	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	WDR66_HUMAN	WDR66	HGNC	.	.	UPI00001AEB2C	SNV	WDR66,missense_variant,p.Asn637Lys,ENST00000397454,;WDR66,missense_variant,p.Asn637Lys,ENST00000288912,;WDR66,upstream_gene_variant,,ENST00000545752,;WDR66,non_coding_transcript_exon_variant,,ENST00000543211,;WDR66,non_coding_transcript_exon_variant,,ENST00000535257,;	2765	118	127	SUCCESS
DNAH10	196385	.	GRCh37	12	124402197	124402197	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	23	111	0	ENST00000409039.3:c.10715A>G	p.Glu3572Gly	p.E3572G	ENST00000409039	NM_207437.3	3572	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9255.2	10715	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000386770	.	63/78	.	.	.	.	.	.	.	.	.	63/78	nonpreferredpair	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Glu3572Gly,ENST00000409039,;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,downstream_gene_variant,,ENST00000542348,;	10740	111	143	SUCCESS
FBRSL1	57666	.	GRCh37	12	133102386	133102386	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	23	204	0	ENST00000434748.2:c.556A>T	p.Ser186Cys	p.S186C	ENST00000434748	NM_001142641.1	186	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45010.1	556	RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAGCTCC	NONE	.	.	hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF20	.	.	ENSP00000396160	.	3/17	.	.	.	.	.	.	.	.	.	3/17	nonpreferredpair	ENST00000434748	Transcript	.	.	ENSG00000112787	29308	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	FBSL_HUMAN	FBRSL1	HGNC	.	.	UPI00018830C3	SNV	FBRSL1,missense_variant,p.Ser113Cys,ENST00000261673,;FBRSL1,missense_variant,p.Ser186Cys,ENST00000434748,;	1576	204	155	SUCCESS
WNT1	7471	.	GRCh37	12	49374980	49374980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	24	217	0	ENST00000293549.3:c.670T>C	p.Ser224Pro	p.S224P	ENST00000293549	NM_005430.3	224	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS8776.1	670	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTCCGGC	NONE	.	.	hmmpanther:PTHR12027:SF80,hmmpanther:PTHR12027,PROSITE_patterns:PS00246,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349	.	.	ENSP00000293549	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000293549	Transcript	.	.	ENSG00000125084	12774	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	WNT1_HUMAN	WNT1	HGNC	.	.	UPI0000051043	SNV	WNT1,missense_variant,p.Ser224Pro,ENST00000293549,;	706	217	207	SUCCESS
OR6C68	403284	.	GRCh37	12	55886941	55886941	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	55	0	ENST00000548615.1:c.780A>G	p.Pro260=	p.P260=	ENST00000548615	NM_001005519.2	260	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS31826.2	780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCATCTGC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF19,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	.	.	ENSP00000448811	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000548615	Transcript	.	.	ENSG00000205327	31297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O6C68_HUMAN	OR6C68	HGNC	.	.	UPI00015E1642	SNV	OR6C68,synonymous_variant,p.%3D,ENST00000548615,;OR6C68,synonymous_variant,p.%3D,ENST00000379662,;RP11-110A12.2,splice_region_variant,,ENST00000556750,;RP11-110A12.2,splice_region_variant,,ENST00000555138,;RP11-110A12.2,non_coding_transcript_exon_variant,,ENST00000554049,;	780	55	71	SUCCESS
OR6C4	341418	.	GRCh37	12	55945800	55945800	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	67	0	ENST00000394256.2:c.790G>T	p.Glu264Ter	p.E264*	ENST00000394256	NM_001005494.1	264	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31827.1	790	MUTECT|MUSE	.	CAAAAGAAGGA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	.	.	ENSP00000377799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000394256	Transcript	.	.	ENSG00000179626	19632	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR6C4_HUMAN	OR6C4	HGNC	.	.	UPI000004A282	SNV	OR6C4,stop_gained,p.Glu264Ter,ENST00000394256,;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	818	67	76	SUCCESS
DCTN2	10540	.	GRCh37	12	57929270	57929270	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	66	0	ENST00000548249.1:c.261G>T	p.Glu87Asp	p.E87D	ENST00000548249	NM_001261412.1	87	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS44930.1	276	RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCTCATA	NONE	.	.	hmmpanther:PTHR15346,hmmpanther:PTHR15346:SF0,Pfam_domain:PF04912	.	.	ENSP00000408910	.	6/16	.	.	.	.	.	.	.	.	.	6/16	nonpreferredpair	ENST00000434715	Transcript	.	.	ENSG00000175203	2712	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	DCTN2_HUMAN	DCTN2	HGNC	A8K8J9_HUMAN	.	UPI000004EFD1	SNV	DCTN2,missense_variant,p.Glu92Asp,ENST00000543672,;DCTN2,missense_variant,p.Glu87Asp,ENST00000548249,;DCTN2,missense_variant,p.Glu101Asp,ENST00000550954,;DCTN2,missense_variant,p.Glu52Asp,ENST00000550086,;DCTN2,missense_variant,p.Glu64Asp,ENST00000550750,;DCTN2,missense_variant,p.Glu64Asp,ENST00000537439,;DCTN2,missense_variant,p.Glu87Asp,ENST00000546670,;DCTN2,missense_variant,p.Glu92Asp,ENST00000434715,;DCTN2,upstream_gene_variant,,ENST00000546758,;DCTN2,non_coding_transcript_exon_variant,,ENST00000548949,;DCTN2,non_coding_transcript_exon_variant,,ENST00000551400,;DCTN2,non_coding_transcript_exon_variant,,ENST00000546965,;DCTN2,intron_variant,,ENST00000551611,;DCTN2,missense_variant,p.Glu87Asp,ENST00000550201,;DCTN2,3_prime_UTR_variant,,ENST00000549394,;DCTN2,non_coding_transcript_exon_variant,,ENST00000547345,;DCTN2,non_coding_transcript_exon_variant,,ENST00000551142,;DCTN2,non_coding_transcript_exon_variant,,ENST00000550576,;DCTN2,upstream_gene_variant,,ENST00000551872,;DCTN2,upstream_gene_variant,,ENST00000552390,;DCTN2,upstream_gene_variant,,ENST00000548736,;DCTN2,upstream_gene_variant,,ENST00000550988,;DCTN2,downstream_gene_variant,,ENST00000547480,;	354	66	77	SUCCESS
AGAP2-AS1	100130776	.	GRCh37	12	58121178	58121178	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	25	130	0	ENST00000542466.2:c.403C>G	p.Arg135Gly	p.R135G	ENST00000542466		135	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	.	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCGCGTGTC	NONE	.	.	.	.	.	ENSP00000437523	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000542466	Transcript	.	.	ENSG00000255737	48633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	.	.	.	AGAP2-AS1	HGNC	B7Z718_HUMAN	.	UPI000021D228	SNV	AGAP2-AS1,missense_variant,p.Arg135Gly,ENST00000542466,;AGAP2,synonymous_variant,p.%3D,ENST00000257897,;AGAP2,synonymous_variant,p.%3D,ENST00000328568,;AGAP2,synonymous_variant,p.%3D,ENST00000547588,;AGAP2,downstream_gene_variant,,ENST00000549129,;RP11-571M6.8,upstream_gene_variant,,ENST00000548410,;RP11-571M6.8,upstream_gene_variant,,ENST00000602413,;	539	130	128	SUCCESS
TSPAN31	6302	.	GRCh37	12	58141073	58141073	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	53	0	ENST00000257910.3:c.633A>G	p.Ter211TrpextTer6	p.*211Wext*6	ENST00000257910	NM_005981.3	211	tgA/tgG	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS8952.1	633	RADIA|MUTECT|MUSE|VARSCANS	.	CTATGAGACTT	NONE	.	.	.	.	.	ENSP00000257910	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000257910	Transcript	.	.	ENSG00000135452	10539	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSN31_HUMAN	TSPAN31	HGNC	F8VW54_HUMAN,F8VVF8_HUMAN,B4DFJ7_HUMAN	.	UPI000013557C	SNV	TSPAN31,stop_lost,p.Ter128TrpextTer?,ENST00000547472,;TSPAN31,stop_lost,p.Ter127TrpextTer6,ENST00000547992,;TSPAN31,stop_lost,p.Ter211TrpextTer6,ENST00000257910,;CDK4,downstream_gene_variant,,ENST00000547853,;CDK4,downstream_gene_variant,,ENST00000552254,;CDK4,downstream_gene_variant,,ENST00000547281,;CDK4,downstream_gene_variant,,ENST00000552862,;CDK4,downstream_gene_variant,,ENST00000551800,;TSPAN31,downstream_gene_variant,,ENST00000552816,;CDK4,downstream_gene_variant,,ENST00000540325,;TSPAN31,downstream_gene_variant,,ENST00000548167,;CDK4,downstream_gene_variant,,ENST00000546489,;CDK4,downstream_gene_variant,,ENST00000549606,;CDK4,downstream_gene_variant,,ENST00000312990,;CDK4,downstream_gene_variant,,ENST00000257904,;CDK4,downstream_gene_variant,,ENST00000552388,;TSPAN31,downstream_gene_variant,,ENST00000548093,;TSPAN31,downstream_gene_variant,,ENST00000547311,;TSPAN31,downstream_gene_variant,,ENST00000550528,;TSPAN31,downstream_gene_variant,,ENST00000553221,;CDK4,downstream_gene_variant,,ENST00000551888,;TSPAN31,3_prime_UTR_variant,,ENST00000549052,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000550791,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000546993,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000546922,;CDK4,downstream_gene_variant,,ENST00000552713,;CDK4,downstream_gene_variant,,ENST00000550419,;CDK4,downstream_gene_variant,,ENST00000553237,;TSPAN31,downstream_gene_variant,,ENST00000553089,;CDK4,downstream_gene_variant,,ENST00000551706,;	907	53	62	SUCCESS
SPSB2	84727	.	GRCh37	12	6981244	6981244	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	19	88	0	ENST00000523102.1:c.664+158A>G		p.*222*	ENST00000523102	NM_001146316.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8567.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAATAACAG	NONE	.	.	.	.	.	ENSP00000428338	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000524270	Transcript	.	.	ENSG00000111671	29522	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPSB2_HUMAN	SPSB2	HGNC	E5RIC2_HUMAN	.	UPI000003316E	SNV	SPSB2,3_prime_UTR_variant,,ENST00000519357,;SPSB2,intron_variant,,ENST00000523102,;SPSB2,intron_variant,,ENST00000524270,;SPSB2,downstream_gene_variant,,ENST00000432205,;TPI1,downstream_gene_variant,,ENST00000396705,;TPI1,downstream_gene_variant,,ENST00000488464,;TPI1,downstream_gene_variant,,ENST00000495834,;LRRC23,upstream_gene_variant,,ENST00000433346,;TPI1,downstream_gene_variant,,ENST00000493987,;TPI1,downstream_gene_variant,,ENST00000229270,;TPI1,downstream_gene_variant,,ENST00000535434,;TPI1,downstream_gene_variant,,ENST00000462761,;LRRC23,upstream_gene_variant,,ENST00000449039,;RPL13P5,upstream_gene_variant,,ENST00000421824,;SPSB2,downstream_gene_variant,,ENST00000437851,;RPL13P5,upstream_gene_variant,,ENST00000412023,;RPL13P5,upstream_gene_variant,,ENST00000274820,;RPL13P5,upstream_gene_variant,,ENST00000451612,;TPI1,downstream_gene_variant,,ENST00000482209,;TPI1,downstream_gene_variant,,ENST00000474253,;	.	88	127	SUCCESS
KCNC2	3747	.	GRCh37	12	75601331	75601331	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	282	11	320	0	ENST00000549446.1:c.433G>A	p.Glu145Lys	p.E145K	ENST00000549446	NM_001260497.1	145	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9007.1	433	MUTECT|MUSE	.	GGTCTCGTCGA	NONE	.	.	Prints_domain:PR01498,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	.	.	ENSP00000449253	.	2/5	.	.	.	.	.	.	.	.	COSM3872507,COSM3872506,COSM3872505	2/5	nonpreferredpair	ENST00000549446	Transcript	.	.	ENSG00000166006	6234	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	probably_damaging(0.969)	.	deleterious(0.02)	1,1,1	KCNC2_HUMAN	KCNC2	HGNC	.	.	UPI000004DB9B	SNV	KCNC2,missense_variant,p.Glu145Lys,ENST00000341669,;KCNC2,missense_variant,p.Glu145Lys,ENST00000393288,;KCNC2,missense_variant,p.Glu145Lys,ENST00000540018,;KCNC2,missense_variant,p.Glu145Lys,ENST00000548513,;KCNC2,missense_variant,p.Glu145Lys,ENST00000550433,;KCNC2,missense_variant,p.Glu145Lys,ENST00000298972,;KCNC2,missense_variant,p.Glu145Lys,ENST00000549446,;KCNC2,missense_variant,p.Glu145Lys,ENST00000350228,;	1114	320	293	SUCCESS
NAV3	89795	.	GRCh37	12	78452777	78452777	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	42	0	ENST00000397909.2:c.2518T>C	p.Tyr840His	p.Y840H	ENST00000397909	NM_001024383.1	840	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS41815.1	2518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGTACATG	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	12/39	.	.	.	.	.	.	.	.	.	12/39	nonpreferredpair	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0.01)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Tyr840His,ENST00000536525,;NAV3,missense_variant,p.Tyr840His,ENST00000397909,;NAV3,missense_variant,p.Tyr840His,ENST00000266692,;NAV3,missense_variant,p.Tyr840His,ENST00000228327,;RP11-136F16.1,intron_variant,,ENST00000549103,;	2691	42	54	SUCCESS
C12orf74	0	.	GRCh37	12	93100546	93100546	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	12	78	0	ENST00000397833.3:c.139A>T	p.Thr47Ser	p.T47S	ENST00000397833	NM_001178097.2	47	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS41819.1	139	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCACCTCG	NONE	.	.	.	.	.	ENSP00000380933	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000397833	Transcript	.	.	ENSG00000214215	27887	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.929)	.	deleterious(0.01)	.	CL074_HUMAN	C12orf74	HGNC	.	.	UPI00005DB386	SNV	C12orf74,missense_variant,p.Thr47Ser,ENST00000397833,;C12orf74,missense_variant,p.Thr47Ser,ENST00000544406,;	590	78	96	SUCCESS
SLITRK5	26050	.	GRCh37	13	88328465	88328465	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755524884	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	16	88	0	ENST00000325089.6:c.822C>A	p.Asp274Glu	p.D274E	ENST00000325089	NM_015567.1	274	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9465.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACTTGGA	NONE	byFrequency	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	rs755524884	2/2	nonpreferredpair	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Asp274Glu,ENST00000325089,;SLITRK5,missense_variant,p.Asp33Glu,ENST00000400028,;MIR4500HG,upstream_gene_variant,,ENST00000441617,;	1041	88	110	SUCCESS
LRFN5	145581	.	GRCh37	14	42356745	42356745	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	106	0	ENST00000298119.4:c.917T>C	p.Leu306Pro	p.L306P	ENST00000298119	NM_152447.3	306	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9678.1	917	RADIA|MUTECT|MUSE|VARSCANS	.	AACACTGAGGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS50835	.	.	ENSP00000298119	.	3/6	.	.	.	.	.	.	.	.	COSM955710	3/6	nonpreferredpair	ENST00000298119	Transcript	.	.	ENSG00000165379	20360	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,missense_variant,p.Leu306Pro,ENST00000298119,;LRFN5,missense_variant,p.Leu306Pro,ENST00000554120,;LRFN5,missense_variant,p.Leu306Pro,ENST00000554171,;	2106	106	107	SUCCESS
DNAAF2	55172	.	GRCh37	14	50100800	50100800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	14	0	ENST00000298292.8:c.1068G>T	p.Glu356Asp	p.E356D	ENST00000298292	NM_018139.2	356	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS9691.2	1068	MUTECT|MUSE	.	GCGGGCTCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF3	.	.	ENSP00000298292	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000298292	Transcript	.	.	ENSG00000165506	20188	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.32)	.	KTU_HUMAN	DNAAF2	HGNC	.	.	UPI00014F7B85	SNV	DNAAF2,missense_variant,p.Glu356Asp,ENST00000298292,;DNAAF2,missense_variant,p.Glu356Asp,ENST00000406043,;RP11-649E7.7,upstream_gene_variant,,ENST00000556657,;	1149	14	9	SUCCESS
YLPM1	56252	.	GRCh37	14	75245225	75245225	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs376895690	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	170	39	200	0	ENST00000325680.7:c.949A>G	p.Lys317Glu	p.K317E	ENST00000325680	NM_019589.2	317	Aaa/Gaa	0	G:0.0003	.	.	.	.	G	K/E	protein_coding	YES	CCDS45135.1	949	RADIA|MUTECT|MUSE|VARSCANS	.	GACACAAAAAG	NONE	byCluster	.	hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413	.	G:0	ENSP00000324463	.	2/21	.	.	.	.	.	.	.	.	rs376895690	2/21	nonpreferredpair	ENST00000325680	Transcript	.	.	ENSG00000119596	17798	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	YLPM1_HUMAN	YLPM1	HGNC	B4DMQ9_HUMAN	.	UPI00006C1433	SNV	YLPM1,missense_variant,p.Lys317Glu,ENST00000325680,;YLPM1,missense_variant,p.Lys317Glu,ENST00000238571,;YLPM1,missense_variant,p.Lys317Glu,ENST00000552421,;YLPM1,upstream_gene_variant,,ENST00000549293,;	1073	200	209	SUCCESS
NEK9	91754	.	GRCh37	14	75567691	75567697	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCACCAT	TCACCAT	CAG	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	TCACCAT	TCACCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	50	0	ENST00000238616.5:c.2000_2002+4delinsCTG		p.X667_splice	ENST00000238616	NM_033116.4	667		0	.	.	.	.	.	CAG	.	protein_coding	YES	CCDS9839.1	2000-?	VARSCANI*|PINDEL|VARSCANS*	.	ACAGACTCACCATCAGTG	NONE	.	.	.	.	.	ENSP00000238616	.	16/22	.	.	.	.	.	.	.	.	.	16/22	nonpreferredpair	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	HIGH	16/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	substitution	NEK9,splice_donor_variant,,ENST00000238616,;NEK9,splice_donor_variant,,ENST00000557026,;NEK9,splice_donor_variant,,ENST00000556170,;NEK9,splice_donor_variant,,ENST00000555537,;	2159-?	50	57	SUCCESS
PSMC1	5700	.	GRCh37	14	90730490	90730490	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	53	0	ENST00000261303.8:c.571G>A	p.Asp191Asn	p.D191N	ENST00000261303	NM_002802.2	191	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS32139.1	571	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGGACAAC	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,hmmpanther:PTHR23073:SF9,hmmpanther:PTHR23073	.	.	ENSP00000261303	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000261303	Transcript	.	.	ENSG00000100764	9547	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.694)	.	deleterious(0.01)	.	PRS4_HUMAN	PSMC1	HGNC	Q53XL8_HUMAN,G3V4X1_HUMAN,B4DR63_HUMAN	.	UPI00000041A5	SNV	PSMC1,missense_variant,p.Asp118Asn,ENST00000543772,;PSMC1,missense_variant,p.Asp28Asn,ENST00000553835,;PSMC1,missense_variant,p.Asp191Asn,ENST00000261303,;PSMC1,upstream_gene_variant,,ENST00000555787,;PSMC1,downstream_gene_variant,,ENST00000555679,;PSMC1,downstream_gene_variant,,ENST00000554624,;PSMC1,downstream_gene_variant,,ENST00000557357,;	674	53	76	SUCCESS
FSIP1	161835	.	GRCh37	15	40031879	40031879	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	26	0	ENST00000350221.3:c.767A>G	p.Lys256Arg	p.K256R	ENST00000350221	NM_152597.4	256	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS10050.1	767	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTTAATA	NONE	.	.	Prints_domain:PR02075,Pfam_domain:PF15554,hmmpanther:PTHR22012,hmmpanther:PTHR22012:SF1	.	.	ENSP00000280236	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000350221	Transcript	.	.	ENSG00000150667	21674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	deleterious(0.01)	.	FSIP1_HUMAN	FSIP1	HGNC	.	.	UPI000006F96D	SNV	FSIP1,missense_variant,p.Lys256Arg,ENST00000350221,;FSIP1,non_coding_transcript_exon_variant,,ENST00000559692,;	977	26	22	SUCCESS
TCF12	6938	.	GRCh37	15	57212181	57212181	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	19	124	0	ENST00000267811.5:c.70A>G	p.Ser24Gly	p.S24G	ENST00000267811	NM_003205.3	24	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS10160.1	70	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCAGTGCG	NONE	.	.	hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF11	.	.	ENSP00000388940	.	2/21	.	.	.	.	.	.	.	.	.	2/21	nonpreferredpair	ENST00000438423	Transcript	1	.	ENSG00000140262	11623	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HTF4_HUMAN	TCF12	HGNC	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY3_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN	.	UPI000018CEA6	SNV	TCF12,missense_variant,p.Ser24Gly,ENST00000557947,;TCF12,missense_variant,p.Ser24Gly,ENST00000438423,;TCF12,missense_variant,p.Ser24Gly,ENST00000557843,;TCF12,missense_variant,p.Ser24Gly,ENST00000559609,;TCF12,missense_variant,p.Ser24Gly,ENST00000267811,;TCF12,missense_variant,p.Ser24Gly,ENST00000333725,;TCF12,missense_variant,p.Ser24Gly,ENST00000452095,;ZNF280D,upstream_gene_variant,,ENST00000559000,;TCF12,non_coding_transcript_exon_variant,,ENST00000560190,;TCF12,non_coding_transcript_exon_variant,,ENST00000558908,;ZNF280D,upstream_gene_variant,,ENST00000560587,;ZNF280D,upstream_gene_variant,,ENST00000561122,;ZNF280D,upstream_gene_variant,,ENST00000559920,;TCF12,missense_variant,p.Ser24Gly,ENST00000561152,;	366	124	132	SUCCESS
ZNF592	9640	.	GRCh37	15	85327447	85327447	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	31	167	0	ENST00000299927.3:c.1541G>C	p.Ser514Thr	p.S514T	ENST00000299927		514	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS32317.1	1541	RADIA|MUTECT|MUSE	.	CCACAGTGTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199	.	.	ENSP00000299927	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000299927	Transcript	1	.	ENSG00000166716	28986	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	ZN592_HUMAN	ZNF592	HGNC	.	.	UPI000013E5FC	SNV	ZNF592,missense_variant,p.Ser514Thr,ENST00000299927,;ZNF592,missense_variant,p.Ser514Thr,ENST00000560079,;ZNF592,missense_variant,p.Ser514Thr,ENST00000559607,;	1563	167	183	SUCCESS
CACNA1H	8912	.	GRCh37	16	1254427	1254427	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773952204	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	53	256	0	ENST00000348261.5:c.2420C>T	p.Thr807Met	p.T807M	ENST00000348261	NM_021098.2	807	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS45375.1	2420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACACGCTGA	NONE	byFrequency	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	10/35	.	.	.	.	.	.	.	.	rs773952204	10/35	nonpreferredpair	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.Thr807Met,ENST00000565831,;CACNA1H,missense_variant,p.Thr807Met,ENST00000358590,;CACNA1H,missense_variant,p.Thr807Met,ENST00000348261,;RP11-616M22.3,downstream_gene_variant,,ENST00000564700,;CACNA1H,upstream_gene_variant,,ENST00000569953,;	2668	256	272	SUCCESS
DNAH3	55567	.	GRCh37	16	20981196	20981196	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	23	122	0	ENST00000261383.3:c.8376A>G	p.Pro2792=	p.P2792=	ENST00000261383	NM_017539.1	2792	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS10594.1	8376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTGGTGG	NONE	.	.	Pfam_domain:PF12777,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	52/62	.	.	.	.	.	.	.	.	.	52/62	nonpreferredpair	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,synonymous_variant,p.%3D,ENST00000261383,;DNAH3,3_prime_UTR_variant,,ENST00000415178,;	8376	122	133	SUCCESS
ATXN2L	11273	.	GRCh37	16	28845876	28845876	+	synonymous_variant	Silent	SNP	G	G	A	rs147688158	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	78	1	ENST00000336783.4:c.2295G>A	p.Pro765=	p.P765=	ENST00000336783	NM_007245.3	765	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS10640.1	2295	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGCCGAT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8	.	A:0	ENSP00000378917	.	18/24	.	.	.	.	.	.	.	.	rs147688158	18/24	nonpreferredpair	ENST00000395547	Transcript	.	.	ENSG00000168488	31326	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATX2L_HUMAN	ATXN2L	HGNC	H3BSQ5_HUMAN	.	UPI000016783F	SNV	ATXN2L,synonymous_variant,p.%3D,ENST00000395547,;ATXN2L,synonymous_variant,p.%3D,ENST00000336783,;ATXN2L,synonymous_variant,p.%3D,ENST00000382686,;ATXN2L,synonymous_variant,p.%3D,ENST00000325215,;ATXN2L,synonymous_variant,p.%3D,ENST00000570200,;ATXN2L,synonymous_variant,p.%3D,ENST00000564304,;ATXN2L,synonymous_variant,p.%3D,ENST00000566946,;ATXN2L,synonymous_variant,p.%3D,ENST00000340394,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000569318,;ATXN2L,upstream_gene_variant,,ENST00000567024,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,synonymous_variant,p.%3D,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000561732,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000564035,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000564284,;ATXN2L,upstream_gene_variant,,ENST00000562686,;	2462	79	37	SUCCESS
PHKG2	5261	.	GRCh37	16	30760208	30760208	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	28	170	0	ENST00000563588.1:c.67A>T	p.Lys23Ter	p.K23*	ENST00000563588	NM_000294.2	23	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS10690.1	67	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGAAGTAC	NONE	.	.	hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF121,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000455607	.	2/10	.	.	.	.	.	.	.	.	.	2/10	nonpreferredpair	ENST00000563588	Transcript	.	.	ENSG00000156873	8931	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHKG2_HUMAN	PHKG2	HGNC	Q59GQ4_HUMAN,H3BTW6_HUMAN,H3BP07_HUMAN	.	UPI000012DF54	SNV	PHKG2,stop_gained,p.Lys23Ter,ENST00000563588,;PHKG2,stop_gained,p.Lys23Ter,ENST00000565897,;PHKG2,stop_gained,p.Lys23Ter,ENST00000565924,;PHKG2,stop_gained,p.Lys23Ter,ENST00000328273,;PHKG2,stop_gained,p.Lys23Ter,ENST00000424889,;PHKG2,upstream_gene_variant,,ENST00000561712,;RP11-2C24.4,non_coding_transcript_exon_variant,,ENST00000483578,;PHKG2,stop_gained,p.Lys23Ter,ENST00000563607,;PHKG2,non_coding_transcript_exon_variant,,ENST00000563913,;PHKG2,non_coding_transcript_exon_variant,,ENST00000569762,;PHKG2,non_coding_transcript_exon_variant,,ENST00000564838,;PHKG2,upstream_gene_variant,,ENST00000569684,;SRCAP,downstream_gene_variant,,ENST00000380361,;	306	170	183	SUCCESS
MEFV	4210	.	GRCh37	16	3298983	3298983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	65	0	ENST00000219596.1:c.1282G>A	p.Glu428Lys	p.E428K	ENST00000219596	NM_000243.2	428	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10498.1	1282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTCCAGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103,Superfamily_domains:SSF57845	.	.	ENSP00000219596	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000219596	Transcript	.	.	ENSG00000103313	6998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	deleterious(0.04)	.	MEFV_HUMAN	MEFV	HGNC	.	.	UPI000004C0CA	SNV	MEFV,missense_variant,p.Glu428Lys,ENST00000219596,;MEFV,missense_variant,p.Glu217Lys,ENST00000536379,;MEFV,missense_variant,p.Glu248Lys,ENST00000339854,;MEFV,missense_variant,p.Glu217Lys,ENST00000541159,;MEFV,missense_variant,p.Glu428Lys,ENST00000538326,;MEFV,missense_variant,p.Glu217Lys,ENST00000536980,;MEFV,missense_variant,p.Glu459Lys,ENST00000542898,;MEFV,missense_variant,p.Glu428Lys,ENST00000537682,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000570511,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;MEFV,intron_variant,,ENST00000539145,;MEFV,upstream_gene_variant,,ENST00000539154,;	1322	65	65	SUCCESS
SLC12A3	6559	.	GRCh37	16	56920369	56920369	+	synonymous_variant	Silent	SNP	C	C	A	rs758071801	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	62	0	ENST00000563236.1:c.2019C>A	p.Ile673=	p.I673=	ENST00000563236		673	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS10770.1	2019	RADIA|MUTECT|MUSE|VARSCANS	.	ATGATCTGTGG	NONE	byFrequency	.	hmmpanther:PTHR11827:SF9,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000402152	.	16/26	.	.	.	.	.	.	.	.	rs758071801	16/26	nonpreferredpair	ENST00000438926	Transcript	.	.	ENSG00000070915	10912	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S12A3_HUMAN	SLC12A3	HGNC	.	.	UPI00001FF243	SNV	SLC12A3,synonymous_variant,p.%3D,ENST00000566786,;SLC12A3,synonymous_variant,p.%3D,ENST00000563236,;SLC12A3,synonymous_variant,p.%3D,ENST00000438926,;SLC12A3,synonymous_variant,p.%3D,ENST00000262502,;	2048	62	79	SUCCESS
CTCF	10664	.	GRCh37	16	67655390	67655390	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	103	0	ENST00000264010.4:c.1253A>G	p.Gln418Arg	p.Q418R	ENST00000264010	NM_006565.3	418	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS10841.1	1253	RADIA|MUTECT|MUSE|VARSCANS	.	TACCCAAAGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000264010	.	7/12	.	.	.	.	.	.	.	.	COSM255855	7/12	nonpreferredpair	ENST00000264010	Transcript	.	.	ENSG00000102974	13723	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	CTCF_HUMAN	CTCF	HGNC	.	.	UPI0000000DDE	SNV	CTCF,missense_variant,p.Gln90Arg,ENST00000401394,;CTCF,missense_variant,p.Gln418Arg,ENST00000264010,;	1697	103	108	SUCCESS
MYH13	8735	.	GRCh37	17	10227505	10227505	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	105	0	ENST00000252172.4:c.2768T>A	p.Val923Asp	p.V923D	ENST00000252172	NM_003802.2	923	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS45613.1	2768	MUTECT|MUSE	.	CCTTGACTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF267,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000404570	.	22/41	.	.	.	.	.	.	.	.	.	22/41	nonpreferredpair	ENST00000418404	Transcript	.	.	ENSG00000006788	7571	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.424)	.	deleterious(0)	.	MYH13_HUMAN	MYH13	HGNC	.	.	UPI0000DB39EA	SNV	MYH13,missense_variant,p.Val923Asp,ENST00000418404,;MYH13,missense_variant,p.Val923Asp,ENST00000252172,;RP11-401O9.3,intron_variant,,ENST00000577743,;	2932	105	94	SUCCESS
SLC43A2	124935	.	GRCh37	17	1480000	1480000	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	65	0	ENST00000301335.5:c.1439A>T	p.Gln480Leu	p.Q480L	ENST00000301335		480	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS11006.1	1439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAACTGGGTG	NONE	.	.	hmmpanther:PTHR20766:SF2,hmmpanther:PTHR20766,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000301335	.	13/14	.	.	.	.	.	.	.	.	.	13/14	nonpreferredpair	ENST00000301335	Transcript	.	.	ENSG00000167703	23087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.07)	.	LAT4_HUMAN	SLC43A2	HGNC	Q8NBW0_HUMAN	.	UPI00000707A9	SNV	SLC43A2,missense_variant,p.Gln343Leu,ENST00000412517,;SLC43A2,missense_variant,p.Gln484Leu,ENST00000571650,;SLC43A2,missense_variant,p.Gln480Leu,ENST00000301335,;SLC43A2,missense_variant,p.Gln484Leu,ENST00000382147,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000576537,;SLC43A2,downstream_gene_variant,,ENST00000576769,;	1528	65	69	SUCCESS
OR1D5	8386	.	GRCh37	17	2966565	2966565	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752711466	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	432	12	642	0	ENST00000575751.1:c.337C>T	p.Leu113Phe	p.L113F	ENST00000575751	NM_014566.1	113	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS58499.1	337	MUTECT|MUSE	.	GATGAGGTTGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF285,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000459028	.	1/1	.	.	.	.	.	.	.	.	rs752711466	1/1	nonpreferredpair	ENST00000575751	Transcript	.	.	ENSG00000262628	8186	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.075)	.	tolerated(1)	.	OR1D5_HUMAN	OR1D5	HGNC	Q6IFL7_HUMAN	.	UPI0000041B11	SNV	OR1D5,missense_variant,p.Leu113Phe,ENST00000575751,;	337	642	445	SUCCESS
HOXB7	3217	.	GRCh37	17	46685442	46685442	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	59	0	ENST00000239165.7:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000239165	NM_004502.3	139	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11532.1	416	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCGTTTG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF129,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00025	.	.	ENSP00000239165	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000239165	Transcript	.	.	ENSG00000260027	5118	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.577)	.	tolerated(0.07)	.	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,missense_variant,p.Arg139Gln,ENST00000239165,;HOXB6,upstream_gene_variant,,ENST00000225648,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB6,upstream_gene_variant,,ENST00000484302,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,non_coding_transcript_exon_variant,,ENST00000467314,;HOXB7,non_coding_transcript_exon_variant,,ENST00000567101,;HOXB6,upstream_gene_variant,,ENST00000490419,;HOXB3,upstream_gene_variant,,ENST00000552000,;	515	59	77	SUCCESS
IGF2BP1	10642	.	GRCh37	17	47119724	47119724	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	43	192	0	ENST00000290341.3:c.1062T>C	p.Asp354=	p.D354=	ENST00000290341	NM_006546.3	354	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS11543.1	1062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGTGGC	NONE	.	.	hmmpanther:PTHR10288:SF136,hmmpanther:PTHR10288,Superfamily_domains:SSF54791	.	.	ENSP00000290341	.	9/15	.	.	.	.	.	.	.	.	.	9/15	nonpreferredpair	ENST00000290341	Transcript	.	.	ENSG00000159217	28866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF2B1_HUMAN	IGF2BP1	HGNC	D3DTW3_HUMAN	.	UPI0000117170	SNV	IGF2BP1,synonymous_variant,p.%3D,ENST00000290341,;IGF2BP1,synonymous_variant,p.%3D,ENST00000431824,;IGF2BP1,downstream_gene_variant,,ENST00000505562,;RP11-501C14.7,downstream_gene_variant,,ENST00000511142,;	1396	192	229	SUCCESS
USP32	84669	.	GRCh37	17	58303397	58303397	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	27	0	ENST00000300896.4:c.1432+3A>G		p.X478_splice	ENST00000300896	NM_032582.3	478		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32697.1	.	RADIA|MUSE|VARSCANS	.	ATATTTACCGC	NONE	.	.	.	.	.	ENSP00000300896	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000300896	Transcript	.	.	ENSG00000170832	19143	.	.	LOW	13/33	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP32_HUMAN	USP32	HGNC	Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN	.	UPI0000047AF8	SNV	USP32,splice_region_variant,,ENST00000590133,;USP32,splice_region_variant,,ENST00000592339,;USP32,splice_region_variant,,ENST00000300896,;USP32,splice_region_variant,,ENST00000591768,;USP32,downstream_gene_variant,,ENST00000589335,;USP32,splice_region_variant,,ENST00000587651,;USP32,splice_region_variant,,ENST00000589552,;	.	27	30	SUCCESS
C17orf49	124944	.	GRCh37	17	6920313	6920313	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs768995542	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	54	0	ENST00000439424.2:c.494A>C	p.Lys165Thr	p.K165T	ENST00000439424	NM_001142798.2	165	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS45595.1	494	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTAAGAAAC	NONE	.	.	hmmpanther:PTHR21397	.	.	ENSP00000448598	.	5/6	.	.	.	.	.	.	.	.	rs768995542	5/6	nonpreferredpair	ENST00000546495	Transcript	.	.	ENSG00000258315	28737	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	BAP18_HUMAN	C17orf49	HGNC	F8W1H0_HUMAN	.	UPI0000494405	SNV	C17orf49,missense_variant,p.Lys165Thr,ENST00000546495,;RNASEK-C17orf49,missense_variant,p.Lys206Thr,ENST00000547302,;C17orf49,missense_variant,p.Lys131Thr,ENST00000552402,;C17orf49,missense_variant,p.Lys139Thr,ENST00000552775,;C17orf49,missense_variant,p.Lys165Thr,ENST00000439424,;C17orf49,intron_variant,,ENST00000546760,;RNASEK,downstream_gene_variant,,ENST00000570898,;RNASEK,downstream_gene_variant,,ENST00000552842,;AC027763.2,upstream_gene_variant,,ENST00000573939,;AC040977.1,upstream_gene_variant,,ENST00000593646,;RNASEK,downstream_gene_variant,,ENST00000402093,;AC027763.2,upstream_gene_variant,,ENST00000574377,;RNASEK,downstream_gene_variant,,ENST00000552321,;AC027763.2,upstream_gene_variant,,ENST00000399541,;RNASEK,downstream_gene_variant,,ENST00000548577,;AC027763.2,upstream_gene_variant,,ENST00000575889,;AC027763.2,upstream_gene_variant,,ENST00000399540,;AC027763.2,upstream_gene_variant,,ENST00000575727,;MIR497HG,downstream_gene_variant,,ENST00000385194,;MIR497HG,downstream_gene_variant,,ENST00000385056,;MIR497HG,non_coding_transcript_exon_variant,,ENST00000572453,;MIR497HG,intron_variant,,ENST00000443997,;RP11-589P10.7,intron_variant,,ENST00000572547,;C17orf49,non_coding_transcript_exon_variant,,ENST00000550038,;C17orf49,intron_variant,,ENST00000547709,;C17orf49,3_prime_UTR_variant,,ENST00000547747,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000549775,;C17orf49,non_coding_transcript_exon_variant,,ENST00000549857,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000547863,;RNASEK,downstream_gene_variant,,ENST00000549393,;RNASEK,downstream_gene_variant,,ENST00000546395,;AC027763.2,upstream_gene_variant,,ENST00000571010,;RNASEK,downstream_gene_variant,,ENST00000552176,;RNASEK,downstream_gene_variant,,ENST00000552039,;RNASEK,downstream_gene_variant,,ENST00000575822,;AC027763.2,upstream_gene_variant,,ENST00000570562,;AC027763.2,upstream_gene_variant,,ENST00000572385,;RNASEK-C17orf49,downstream_gene_variant,,ENST00000607564,;	857	54	46	SUCCESS
SDK2	54549	.	GRCh37	17	71334929	71334929	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199923333	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	228	20	221	0	ENST00000392650.3:c.6316G>A	p.Asp2106Asn	p.D2106N	ENST00000392650	NM_001144952.1	2106	Gac/Aac	0	.	T:0	.	T:0	.	T	D/N	protein_coding	YES	CCDS45769.1	6316	MUTECT|MUSE|VARSCANS	.	CGAGTCGCTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37	T:0.001	.	ENSP00000376421	T:0.001	45/45	.	.	.	.	.	.	.	.	rs199923333	45/45	nonpreferredpair	ENST00000392650	Transcript	.	T:0.0004	ENSG00000069188	19308	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.747)	T:0	tolerated(0.12)	.	SDK2_HUMAN	SDK2	HGNC	.	.	UPI0000E5A088	SNV	SDK2,missense_variant,p.Asp1263Asn,ENST00000424778,;SDK2,missense_variant,p.Asp2087Asn,ENST00000388726,;SDK2,missense_variant,p.Asp2106Asn,ENST00000392650,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;	6317	221	248	SUCCESS
TP53	7157	.	GRCh37	17	7576928	7576928	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs397516439	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	34	169	0	ENST00000269305.4:c.920-2A>G		p.X307_splice	ENST00000269305	NM_001126112.2	307		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic	AGTGCTAGGAA	SITE|p.?|c.920-2A>G|6,SITE|p.?|c.920-2A>G|21,SITE|p.?|c.920-2A>G|5,SITE|p.?|c.920-2A>G|11,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.N310D|c.928A>G|3,BUFFER|p.N310fs*35|c.927delC|3,BUFFER|p.N310fs*35|c.927delC|3,BUFFER|p.P309S|c.925C>T|3,BUFFER|p.?|c.920-1G>T|6,BUFFER|p.?|c.920-1G>T|3,BUFFER|p.?|c.920-1G>A|13,BUFFER|p.?|c.920-1G>A|5,BUFFER|p.?|c.920-1G>T|7,BUFFER|p.?|c.920-2A>T|4,BUFFER|p.?|c.920-2A>T|9,BUFFER|p.?|c.920-2A>T|9	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	rs397516439,TP53_g.13990A>C,TP53_g.13990A>G,TP53_g.13990A>T,COSM45771,COSM33650,COSM131541,COSM131542,COSM121092,COSM3388167,COSM3717624,COSM1649347,COSM1646822	.	nonpreferredpair	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	8/10	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	.	169	174	SUCCESS
CTD-2047H16.4	0	.	GRCh37	17	78327673	78327673	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	29	0	ENST00000575034.1:n.1606C>T		p.*536*	ENST00000575034				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58606.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGCGGAG	NONE	.	.	.	.	.	ENSP00000464087	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODIFIER	34/67	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,intron_variant,,ENST00000582970,;RNF213,intron_variant,,ENST00000336301,;RNF213,intron_variant,,ENST00000508628,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;CTD-2047H16.4,downstream_gene_variant,,ENST00000572151,;RNF213,upstream_gene_variant,,ENST00000560694,;RNF213,upstream_gene_variant,,ENST00000558116,;	.	29	43	SUCCESS
STARD6	147323	.	GRCh37	18	51851176	51851176	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	78	0	ENST00000307844.3:c.549A>C	p.Ile183=	p.I183=	ENST00000307844	NM_139171.1	183	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS11955.1	549	MUTECT|MUSE|VARSCANS	.	TCAATTATTGA	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000462349	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000581310	Transcript	.	.	ENSG00000174448	18066	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAR6_HUMAN	STARD6	HGNC	.	.	UPI0000136137	SNV	STARD6,synonymous_variant,p.%3D,ENST00000580990,;STARD6,synonymous_variant,p.%3D,ENST00000307844,;STARD6,synonymous_variant,p.%3D,ENST00000581310,;POLI,downstream_gene_variant,,ENST00000579823,;	923	78	101	SUCCESS
KEAP1	9817	.	GRCh37	19	10602442	10602442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	12	113	0	ENST00000171111.5:c.1136G>T	p.Gly379Val	p.G379V	ENST00000171111	NM_203500.1	379	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12239.1	1136	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCGCCC	NONE	.	.	hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000171111	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Gly379Val,ENST00000393623,;KEAP1,missense_variant,p.Gly379Val,ENST00000171111,;KEAP1,downstream_gene_variant,,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Gly39Val,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	1684	113	104	SUCCESS
EMR2	0	.	GRCh37	19	14865791	14865791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	31	171	0	ENST00000315576.3:c.1565T>C	p.Val522Ala	p.V522A	ENST00000315576	NM_013447.3	522	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32935.1	1565	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGACGGCA	NONE	.	.	PROSITE_profiles:PS50221,hmmpanther:PTHR12011:SF179,hmmpanther:PTHR12011,Pfam_domain:PF01825,SMART_domains:SM00303,Prints_domain:PR01278	.	.	ENSP00000319883	.	14/21	.	.	.	.	.	.	.	.	.	14/21	nonpreferredpair	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	deleterious(0)	.	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,missense_variant,p.Val429Ala,ENST00000594076,;EMR2,missense_variant,p.Val473Ala,ENST00000594294,;EMR2,missense_variant,p.Val511Ala,ENST00000601345,;EMR2,missense_variant,p.Val473Ala,ENST00000346057,;EMR2,missense_variant,p.Val380Ala,ENST00000595839,;EMR2,missense_variant,p.Val380Ala,ENST00000353005,;EMR2,missense_variant,p.Val429Ala,ENST00000353876,;EMR2,missense_variant,p.Val522Ala,ENST00000315576,;EMR2,missense_variant,p.Val511Ala,ENST00000392967,;EMR2,missense_variant,p.Val511Ala,ENST00000596991,;EMR2,synonymous_variant,p.%3D,ENST00000392964,;EMR2,intron_variant,,ENST00000392965,;EMR2,synonymous_variant,p.%3D,ENST00000595208,;EMR2,intron_variant,,ENST00000392962,;EMR2,intron_variant,,ENST00000360222,;	2017	171	197	SUCCESS
PIK3R2	5296	.	GRCh37	19	18279669	18279669	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs748340519	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	27	198	0	ENST00000222254.8:c.1942G>T	p.Glu648Ter	p.E648*	ENST00000222254	NM_005027.3	648	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS12371.1	1942	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGAGAGC	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10155:SF1,hmmpanther:PTHR10155,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00678,Prints_domain:PR00401	.	.	ENSP00000222254	.	15/16	.	.	.	.	.	.	.	.	rs748340519	15/16	nonpreferredpair	ENST00000222254	Transcript	1	.	ENSG00000105647	8980	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P85B_HUMAN	PIK3R2	HGNC	Q96CK7_HUMAN,M0QYU3_HUMAN	.	UPI000006EF95	SNV	PIK3R2,stop_gained,p.Glu648Ter,ENST00000222254,;IFI30,upstream_gene_variant,,ENST00000407280,;IFI30,upstream_gene_variant,,ENST00000597802,;PIK3R2,stop_gained,p.Glu648Ter,ENST00000593731,;PIK3R2,3_prime_UTR_variant,,ENST00000464016,;PIK3R2,3_prime_UTR_variant,,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000459743,;	2542	198	199	SUCCESS
ZNF536	9745	.	GRCh37	19	31040266	31040266	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	72	0	ENST00000355537.3:c.3740G>T	p.Gly1247Val	p.G1247V	ENST00000355537	NM_014717.1	1247	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32984.1	3740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGCCTGC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	deleterious_low_confidence(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly5Val,ENST00000592773,;ZNF536,missense_variant,p.Gly1247Val,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000585628,;	3887	72	76	SUCCESS
ATP4A	495	.	GRCh37	19	36048727	36048727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	120	0	ENST00000262623.3:c.1523A>T	p.Asp508Val	p.D508V	ENST00000262623	NM_000704.2	508	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS12467.1	1523	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCCTCC	NONE	.	.	Superfamily_domains:SSF81660,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	.	.	ENSP00000262623	.	11/22	.	.	.	.	.	.	.	.	.	11/22	nonpreferredpair	ENST00000262623	Transcript	.	.	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.32)	.	deleterious(0)	.	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Asp508Val,ENST00000262623,;ATP4A,downstream_gene_variant,,ENST00000590916,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,upstream_gene_variant,,ENST00000592131,;	1552	120	101	SUCCESS
NFKBID	84807	.	GRCh37	19	36387302	36387302	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1374673489	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	112	0	ENST00000396901.1:c.397G>A	p.Val133Ile	p.V133I	ENST00000396901	NM_139239.1	133	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS42552.1	397	MUTECT|MUSE|VARSCANS	.	GAGAACTCCTG	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24124:SF5,hmmpanther:PTHR24124,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000380109	.	7/12	.	.	.	.	.	.	.	.	.	7/12	nonpreferredpair	ENST00000396901	Transcript	.	.	ENSG00000167604	15671	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	tolerated(0.17)	.	IKBD_HUMAN	NFKBID	HGNC	.	.	UPI000006EE99	SNV	NFKBID,missense_variant,p.Val133Ile,ENST00000606253,;NFKBID,missense_variant,p.Val148Ile,ENST00000585925,;NFKBID,missense_variant,p.Val285Ile,ENST00000352614,;NFKBID,missense_variant,p.Val133Ile,ENST00000396901,;NFKBID,downstream_gene_variant,,ENST00000585544,;NFKBID,non_coding_transcript_exon_variant,,ENST00000591730,;NFKBID,non_coding_transcript_exon_variant,,ENST00000588497,;NFKBID,non_coding_transcript_exon_variant,,ENST00000590094,;NFKBID,non_coding_transcript_exon_variant,,ENST00000586361,;NFKBID,upstream_gene_variant,,ENST00000590828,;NFKBID,downstream_gene_variant,,ENST00000588039,;	971	112	97	SUCCESS
ZNF790	388536	.	GRCh37	19	37310227	37310227	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs375770964	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	63	0	ENST00000356725.4:c.1019G>C	p.Cys340Ser	p.C340S	ENST00000356725	NM_206894.3	340	tGt/tCt	0	G:0.0002	.	.	.	.	G	C/S	protein_coding	YES	CCDS12496.1	1019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTACATTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	G:0	ENSP00000349161	.	5/5	.	.	.	.	.	.	.	.	rs375770964	5/5	nonpreferredpair	ENST00000356725	Transcript	.	.	ENSG00000197863	33114	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN790_HUMAN	ZNF790	HGNC	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN	.	UPI0000160EF0	SNV	ZNF790,missense_variant,p.Cys340Ser,ENST00000356725,;ZNF790,downstream_gene_variant,,ENST00000586323,;ZNF790,downstream_gene_variant,,ENST00000528994,;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;	1140	63	70	SUCCESS
ZNF546	339327	.	GRCh37	19	40520371	40520371	+	synonymous_variant	Silent	SNP	A	A	T	rs758648271	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	71	0	ENST00000347077.4:c.1194A>T	p.Ser398=	p.S398=	ENST00000347077	NM_178544.3	398	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12548.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCATACCT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000339823	.	7/7	.	.	.	.	.	.	.	.	rs758648271	7/7	nonpreferredpair	ENST00000347077	Transcript	.	.	ENSG00000187187	28671	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN546_HUMAN	ZNF546	HGNC	M0R292_HUMAN,M0QXR6_HUMAN	.	UPI00001984E3	SNV	ZNF546,synonymous_variant,p.%3D,ENST00000600094,;ZNF546,synonymous_variant,p.%3D,ENST00000347077,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000601138,;ZNF546,downstream_gene_variant,,ENST00000599504,;	1410	71	77	SUCCESS
CEACAM4	1089	.	GRCh37	19	42125996	42125996	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	29	91	0	ENST00000221954.2:c.669+47C>G		p.*223*	ENST00000221954	NM_001817.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGTCCC	NONE	.	.	.	.	.	ENSP00000221954	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000221954	Transcript	.	.	ENSG00000105352	1816	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	SNV	CEACAM4,missense_variant,p.Pro237Arg,ENST00000600925,;CEACAM4,intron_variant,,ENST00000221954,;	.	91	134	SUCCESS
EHD2	30846	.	GRCh37	19	48229309	48229309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	78	0	ENST00000263277.3:c.743A>T	p.Glu248Val	p.E248V	ENST00000263277	NM_014601.3	248	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12704.1	743	MUTECT|MUSE	.	GCCCGAGGTGC	NONE	.	.	PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216,Superfamily_domains:SSF52540	.	.	ENSP00000263277	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000263277	Transcript	.	.	ENSG00000024422	3243	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.913)	.	deleterious(0)	.	EHD2_HUMAN	EHD2	HGNC	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN	.	UPI0000071B66	SNV	EHD2,missense_variant,p.Glu112Val,ENST00000538399,;EHD2,missense_variant,p.Glu248Val,ENST00000263277,;CTD-2571L23.8,intron_variant,,ENST00000599924,;EHD2,upstream_gene_variant,,ENST00000540884,;EHD2,upstream_gene_variant,,ENST00000602215,;EHD2,upstream_gene_variant,,ENST00000596225,;	994	78	49	SUCCESS
OSCAR	126014	.	GRCh37	19	54600387	54600387	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	15	76	0	ENST00000359649.4:c.147T>A	p.Pro49=	p.P49=	ENST00000359649	NM_206818.1	49	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12876.1	147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCAGGGGT	NONE	.	.	hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000352671	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,synonymous_variant,p.%3D,ENST00000284648,;OSCAR,synonymous_variant,p.%3D,ENST00000351806,;OSCAR,synonymous_variant,p.%3D,ENST00000356532,;OSCAR,synonymous_variant,p.%3D,ENST00000359649,;OSCAR,synonymous_variant,p.%3D,ENST00000391761,;OSCAR,synonymous_variant,p.%3D,ENST00000358375,;OSCAR,intron_variant,,ENST00000391760,;	170	76	87	SUCCESS
LILRB3	11025	.	GRCh37	19	54725007	54725007	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759194325	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	5	117	1	ENST00000245620.9:c.903C>A	p.Asn301Lys	p.N301K	ENST00000245620		301	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS46175.1	903	MUTECT|MUSE	.	GAGAGGTTGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000245620	.	5/13	.	.	.	.	.	.	.	.	rs759194325	5/13	nonpreferredpair	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,missense_variant,p.Asn301Lys,ENST00000424807,;LILRB3,missense_variant,p.Asn301Lys,ENST00000407860,;LILRA6,missense_variant,p.Asn301Lys,ENST00000270464,;LILRB3,missense_variant,p.Asn301Lys,ENST00000391750,;LILRB3,missense_variant,p.Asn301Lys,ENST00000245620,;LILRB3,missense_variant,p.Asn301Lys,ENST00000346401,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,intron_variant,,ENST00000440558,;LILRA6,intron_variant,,ENST00000419410,;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,upstream_gene_variant,,ENST00000460208,;	905	118	124	SUCCESS
CD209	30835	.	GRCh37	19	7807945	7807945	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752457226	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	46	0	ENST00000315599.7:c.1195C>A	p.Pro399Thr	p.P399T	ENST00000315599	NM_021155.3	399	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12186.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGGGGTGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802	.	.	ENSP00000315477	.	7/7	.	.	.	.	.	.	.	.	rs752457226	7/7	nonpreferredpair	ENST00000315599	Transcript	1	.	ENSG00000090659	1641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.13)	.	CD209_HUMAN	CD209	HGNC	B4E2A8_HUMAN	.	UPI000003422C	SNV	CD209,missense_variant,p.Pro375Thr,ENST00000315591,;CD209,missense_variant,p.Pro329Thr,ENST00000593660,;CD209,missense_variant,p.Pro355Thr,ENST00000204801,;CD209,missense_variant,p.Pro163Thr,ENST00000394161,;CD209,missense_variant,p.Pro238Thr,ENST00000394173,;CD209,missense_variant,p.Pro393Thr,ENST00000354397,;CD209,missense_variant,p.Pro263Thr,ENST00000301357,;CD209,missense_variant,p.Pro399Thr,ENST00000315599,;CD209,missense_variant,p.Pro307Thr,ENST00000602261,;CD209,missense_variant,p.Pro375Thr,ENST00000601951,;CD209,missense_variant,p.Pro263Thr,ENST00000593821,;CD209,downstream_gene_variant,,ENST00000601256,;	1218	46	53	SUCCESS
MUC16	94025	.	GRCh37	19	9073366	9073366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	34	163	0	ENST00000397910.4:c.14080C>T	p.Leu4694Phe	p.L4694F	ENST00000397910	NM_024690.2	4694	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS54212.1	14080	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGTGGAA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	nonpreferredpair	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu4694Phe,ENST00000397910,;	14284	163	177	SUCCESS
PTCHD2	0	.	GRCh37	1	11586811	11586811	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370972004	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	77	0	ENST00000294484.6:c.2717C>T	p.Thr906Met	p.T906M	ENST00000294484	NM_020780.1	906	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS41247.1	2717	MUTECT|MUSE	.	GCTGACGACCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	T:0.0001	ENSP00000294484	.	13/21	.	.	.	.	.	.	.	.	rs370972004	13/21	nonpreferredpair	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Thr906Met,ENST00000389575,;PTCHD2,missense_variant,p.Thr906Met,ENST00000294484,;	2855	77	77	SUCCESS
SELENBP1	8991	.	GRCh37	1	151345144	151345144	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs777457046	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	69	0	ENST00000368868.5:c.-27C>T		p.*9*	ENST00000368868	NM_003944.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS995.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCGGCGGG	NONE	byFrequency	.	.	.	.	ENSP00000357861	.	1/12	.	.	.	.	.	.	.	.	rs777457046	1/12	nonpreferredpair	ENST00000368868	Transcript	.	.	ENSG00000143416	10719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBP1_HUMAN	SELENBP1	HGNC	C9JVL0_HUMAN	.	UPI000007300D	SNV	SELENBP1,5_prime_UTR_variant,,ENST00000368868,;SELENBP1,5_prime_UTR_variant,,ENST00000435071,;SELENBP1,5_prime_UTR_variant,,ENST00000447402,;SELENBP1,5_prime_UTR_variant,,ENST00000458566,;SELENBP1,5_prime_UTR_variant,,ENST00000426705,;SELENBP1,upstream_gene_variant,,ENST00000427867,;SELENBP1,upstream_gene_variant,,ENST00000424475,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000473693,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000498494,;SELENBP1,5_prime_UTR_variant,,ENST00000455397,;SELENBP1,5_prime_UTR_variant,,ENST00000423070,;SELENBP1,5_prime_UTR_variant,,ENST00000455839,;SELENBP1,5_prime_UTR_variant,,ENST00000443708,;SELENBP1,5_prime_UTR_variant,,ENST00000427977,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000492643,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000470345,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000474352,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000493560,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000463664,;SELENBP1,upstream_gene_variant,,ENST00000465273,;	66	69	77	SUCCESS
EFNA3	1944	.	GRCh37	1	155057577	155057577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	95	0	ENST00000368408.3:c.139G>A	p.Glu47Lys	p.E47K	ENST00000368408	NM_004952.4	47	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1090.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAGAGGGC	NONE	.	.	PROSITE_profiles:PS51551,hmmpanther:PTHR11304:SF5,hmmpanther:PTHR11304,Pfam_domain:PF00812,Gene3D:2.60.40.420,Superfamily_domains:SSF49503,Prints_domain:PR01347	.	.	ENSP00000357393	.	2/5	.	.	.	.	.	.	.	.	.	2/5	nonpreferredpair	ENST00000368408	Transcript	.	.	ENSG00000143590	3223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	tolerated(0.1)	.	EFNA3_HUMAN	EFNA3	HGNC	.	.	UPI0000129C8F	SNV	EFNA3,missense_variant,p.Glu47Lys,ENST00000418360,;EFNA3,missense_variant,p.Glu47Lys,ENST00000368408,;EFNA3,missense_variant,p.Glu42Lys,ENST00000556931,;EFNA3,missense_variant,p.Glu42Lys,ENST00000505139,;EFNA3,upstream_gene_variant,,ENST00000470294,;EFNA3,upstream_gene_variant,,ENST00000498667,;	209	95	120	SUCCESS
CCT3	7203	.	GRCh37	1	156303388	156303388	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs773818166	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	29	0	ENST00000295688.3:c.254G>C	p.Arg85Pro	p.R85P	ENST00000295688	NM_005998.4	85	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS1140.2	254	MUTECT|MUSE|VARSCANS	.	GGGTCCGGCTA	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592	.	.	ENSP00000295688	.	5/14	.	.	.	.	.	.	.	.	rs773818166	5/14	nonpreferredpair	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Arg40Pro,ENST00000368261,;CCT3,missense_variant,p.Arg47Pro,ENST00000368259,;CCT3,missense_variant,p.Arg64Pro,ENST00000478640,;CCT3,missense_variant,p.Arg71Pro,ENST00000446905,;CCT3,missense_variant,p.Arg6Pro,ENST00000533194,;CCT3,missense_variant,p.Arg109Pro,ENST00000413555,;CCT3,missense_variant,p.Arg85Pro,ENST00000496684,;CCT3,missense_variant,p.Arg40Pro,ENST00000472765,;CCT3,missense_variant,p.Arg85Pro,ENST00000295688,;CCT3,missense_variant,p.Arg85Pro,ENST00000415548,;TSACC,upstream_gene_variant,,ENST00000368253,;TSACC,upstream_gene_variant,,ENST00000368254,;TSACC,upstream_gene_variant,,ENST00000470342,;TSACC,upstream_gene_variant,,ENST00000368255,;CCT3,non_coding_transcript_exon_variant,,ENST00000463132,;CCT3,non_coding_transcript_exon_variant,,ENST00000368256,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;CCT3,downstream_gene_variant,,ENST00000489870,;	535	29	42	SUCCESS
SLC9C2	284525	.	GRCh37	1	173478714	173478714	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	106	0	ENST00000367714.3:c.3032T>G	p.Ile1011Ser	p.I1011S	ENST00000367714	NM_178527.3	1011	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS1308.1	3032	RADIA|MUTECT|MUSE|VARSCANS	.	CATCAATAAGA	NONE	.	.	hmmpanther:PTHR10110:SF91,hmmpanther:PTHR10110	.	.	ENSP00000356687	.	24/28	.	.	.	.	.	.	.	.	.	24/28	nonpreferredpair	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.24)	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,missense_variant,p.Ile1011Ser,ENST00000367714,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	3455	106	115	SUCCESS
ASTN1	460	.	GRCh37	1	176853524	176853524	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	23	118	0	ENST00000361833.2:c.3177C>A	p.Leu1059=	p.L1059=	ENST00000361833		1059	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1319.1	3177	RADIA|MUTECT|MUSE|VARSCANS	.	TGACGGAGGAG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	19/23	.	.	.	.	.	.	.	.	COSM3863663,COSM3863664	19/23	nonpreferredpair	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,synonymous_variant,p.%3D,ENST00000367654,;ASTN1,synonymous_variant,p.%3D,ENST00000424564,;ASTN1,synonymous_variant,p.%3D,ENST00000361833,;ASTN1,synonymous_variant,p.%3D,ENST00000367657,;	3191	118	169	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186909157	186909157	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	12	53	0	ENST00000367466.3:c.964G>T	p.Ala322Ser	p.A322S	ENST00000367466	NM_024420.2	322	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS1372.1	964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGCACAA	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF13,hmmpanther:PTHR10728,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000356436	.	10/18	.	.	.	.	.	.	.	.	.	10/18	nonpreferredpair	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0.03)	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,missense_variant,p.Ala262Ser,ENST00000442353,;PLA2G4A,missense_variant,p.Ala322Ser,ENST00000367466,;PLA2G4A,downstream_gene_variant,,ENST00000466600,;	1116	53	60	SUCCESS
IGFN1	91156	.	GRCh37	1	201184848	201184848	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	164	34	189	0	ENST00000295591.8:c.657G>T	p.Gly219=	p.G219=	ENST00000295591		219	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS53455.1	9177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGGATGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145	.	.	ENSP00000334714	.	15/24	.	.	.	.	.	.	.	.	.	15/24	nonpreferredpair	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,synonymous_variant,p.%3D,ENST00000295591,;IGFN1,synonymous_variant,p.%3D,ENST00000412892,;IGFN1,synonymous_variant,p.%3D,ENST00000335211,;IGFN1,intron_variant,,ENST00000451870,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;IGFN1,intron_variant,,ENST00000437879,;	9307	190	198	SUCCESS
RBBP5	5929	.	GRCh37	1	205065957	205065957	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	20	97	0	ENST00000264515.6:c.1249G>A	p.Gly417Ser	p.G417S	ENST00000264515	NM_001193273.1	417	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS30983.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCGTAAG	NONE	.	.	hmmpanther:PTHR12816	.	.	ENSP00000264515	.	12/14	.	.	.	.	.	.	.	.	.	12/14	nonpreferredpair	ENST00000264515	Transcript	.	.	ENSG00000117222	9888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.383)	.	tolerated(0.06)	.	RBBP5_HUMAN	RBBP5	HGNC	.	.	UPI00001A9CA5	SNV	RBBP5,missense_variant,p.Gly417Ser,ENST00000264515,;RBBP5,missense_variant,p.Gly417Ser,ENST00000367164,;RP11-536L3.4,downstream_gene_variant,,ENST00000603227,;	1391	97	113	SUCCESS
HHAT	55733	.	GRCh37	1	210847644	210847644	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	125	0	ENST00000261458.3:c.1405A>T	p.Thr469Ser	p.T469S	ENST00000261458	NM_018194.4	469	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS53471.1	1408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGACCCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20	.	.	ENSP00000438468	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.487)	.	deleterious(0.02)	.	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Thr406Ser,ENST00000545781,;HHAT,missense_variant,p.Thr469Ser,ENST00000367010,;HHAT,missense_variant,p.Thr469Ser,ENST00000413764,;HHAT,missense_variant,p.Thr404Ser,ENST00000537898,;HHAT,missense_variant,p.Thr424Ser,ENST00000308852,;HHAT,missense_variant,p.Thr470Ser,ENST00000545154,;HHAT,missense_variant,p.Thr332Ser,ENST00000541565,;HHAT,missense_variant,p.Thr159Ser,ENST00000367009,;HHAT,missense_variant,p.Thr469Ser,ENST00000261458,;	1513	125	100	SUCCESS
CELA3A	10136	.	GRCh37	1	22336295	22336295	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs572609699	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	282	52	311	0	ENST00000290122.3:c.740T>C	p.Ile247Thr	p.I247T	ENST00000290122	NM_005747.4	247	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS220.1	740	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATCTGGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000290122	.	7/8	.	.	.	.	.	.	.	.	rs572609699	7/8	nonpreferredpair	ENST00000290122	Transcript	.	.	ENSG00000142789	15944	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.34)	.	CEL3A_HUMAN	CELA3A	HGNC	B1AQ52_HUMAN	.	UPI0000175BF8	SNV	CELA3A,missense_variant,p.Ile247Thr,ENST00000290122,;CELA3A,missense_variant,p.Ile55Thr,ENST00000400271,;CELA3A,downstream_gene_variant,,ENST00000374663,;RNU6-776P,upstream_gene_variant,,ENST00000364403,;RN7SL186P,upstream_gene_variant,,ENST00000466485,;	759	311	334	SUCCESS
EPHA8	2046	.	GRCh37	1	22902826	22902826	+	synonymous_variant	Silent	SNP	C	C	T	rs145476843	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	303	77	290	0	ENST00000166244.3:c.276C>T	p.Asp92=	p.D92=	ENST00000166244	NM_020526.3	92	gaC/gaT	0	T:0	T:0	.	T:0.0014	.	T	D	protein_coding	YES	CCDS225.1	276	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGACGGCGC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS51550	T:0	T:0.0008	ENSP00000166244	T:0.002	3/17	.	.	.	.	.	.	.	.	rs145476843,COSM4029288,COSM4029289	3/17	nonpreferredpair	ENST00000166244	Transcript	.	T:0.0008	ENSG00000070886	3391	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0.001	.	0,1,1	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,synonymous_variant,p.%3D,ENST00000374644,;EPHA8,synonymous_variant,p.%3D,ENST00000538803,;EPHA8,synonymous_variant,p.%3D,ENST00000166244,;	348	290	380	SUCCESS
C1QA	712	.	GRCh37	1	22965803	22965803	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	21	90	0	ENST00000374642.3:c.641A>T	p.Gln214Leu	p.Q214L	ENST00000374642	NM_015991.2	214	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS226.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCAGGTCT	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF79,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000363773	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000374642	Transcript	.	.	ENSG00000173372	1241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	deleterious(0.05)	.	C1QA_HUMAN	C1QA	HGNC	.	.	UPI00000012E3	SNV	C1QA,missense_variant,p.Gln214Leu,ENST00000402322,;C1QA,missense_variant,p.Gln214Leu,ENST00000374642,;C1QA,missense_variant,p.Gln214Leu,ENST00000438241,;C1QC,upstream_gene_variant,,ENST00000374640,;C1QC,upstream_gene_variant,,ENST00000374637,;C1QC,upstream_gene_variant,,ENST00000374639,;	845	90	113	SUCCESS
CHRM3	1131	.	GRCh37	1	240071769	240071769	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	24	180	0	ENST00000255380.4:c.1018A>G	p.Asn340Asp	p.N340D	ENST00000255380	NM_000740.2	340	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1616.1	1018	RADIA|MUTECT|MUSE|VARSCANS	.	ACAACAATGAT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF61,hmmpanther:PTHR24249,Pfam_domain:PF00001	.	.	ENSP00000255380	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000255380	Transcript	.	.	ENSG00000133019	1952	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.37)	.	ACM3_HUMAN	CHRM3	HGNC	Q8NG01_HUMAN,B1AN12_HUMAN	.	UPI0000050453	SNV	CHRM3,missense_variant,p.Asn340Asp,ENST00000255380,;CHRM3,downstream_gene_variant,,ENST00000448020,;	1797	180	175	SUCCESS
ZBTB18	10472	.	GRCh37	1	244217640	244217640	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769296405	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	35	185	0	ENST00000358704.4:c.564G>T	p.Glu188Asp	p.E188D	ENST00000358704	NM_205768.2	188	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS1622.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAGCCTGG	NONE	.	.	hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	rs769296405	2/2	nonpreferredpair	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.593)	.	tolerated(0.34)	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,missense_variant,p.Glu188Asp,ENST00000358704,;	713	185	201	SUCCESS
JUN	3725	.	GRCh37	1	59248012	59248012	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	64	0	ENST00000371222.2:c.731C>T	p.Pro244Leu	p.P244L	ENST00000371222	NM_002228.3	244	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS610.1	731	RADIA|MUTECT|MUSE	.	CGATGGGGGAC	NONE	.	.	hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF8,Gene3D:1.10.880.10,Superfamily_domains:SSF47454,Prints_domain:PR00043	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.974)	.	deleterious(0.01)	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	SNV	JUN,missense_variant,p.Pro244Leu,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	1774	64	73	SUCCESS
NPHP4	261734	.	GRCh37	1	5964775	5964775	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs543023683	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	28	243	0	ENST00000378156.4:c.2045G>A	p.Arg682Gln	p.R682Q	ENST00000378156	NM_015102.3	682	cGa/cAa	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS44052.1	2045	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTCGTGGC	NONE	by1000G	.	hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	T:0.001	.	ENSP00000367398	T:0	16/30	.	.	.	.	.	.	.	.	rs543023683,COSM1217709	16/30	nonpreferredpair	ENST00000378156	Transcript	.	T:0.0002	ENSG00000131697	19104	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	T:0	tolerated(0.11)	0,1	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,missense_variant,p.Arg682Gln,ENST00000378156,;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,missense_variant,p.Arg681Gln,ENST00000489180,;NPHP4,missense_variant,p.Arg42Gln,ENST00000466897,;NPHP4,3_prime_UTR_variant,,ENST00000378169,;	2311	243	263	SUCCESS
ABCA4	24	.	GRCh37	1	94578571	94578571	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761112891	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	27	201	0	ENST00000370225.3:c.118A>G	p.Ile40Val	p.I40V	ENST00000370225	NM_000350.2	40	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS747.1	118	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGATCAAGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	.	.	ENSP00000359245	.	2/50	.	.	.	.	.	.	.	.	rs761112891	2/50	nonpreferredpair	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(1)	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,missense_variant,p.Ile40Val,ENST00000370225,;ABCA4,missense_variant,p.Ile40Val,ENST00000535735,;	205	201	191	SUCCESS
JAG1	182	.	GRCh37	20	10644621	10644621	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	15	154	0	ENST00000254958.5:c.429T>C	p.Asn143=	p.N143=	ENST00000254958	NM_000214.2	143	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS13112.1	429	MUTECT|MUSE|VARSCANS	.	GTGTCATTACT	NONE	.	.	hmmpanther:PTHR24044:SF212,hmmpanther:PTHR24044	.	.	ENSP00000254958	.	3/26	.	.	.	.	.	.	.	.	.	3/26	nonpreferredpair	ENST00000254958	Transcript	1	.	ENSG00000101384	6188	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JAG1_HUMAN	JAG1	HGNC	B7U6M8_HUMAN,B4DYR1_HUMAN	.	UPI00000498B5	SNV	JAG1,synonymous_variant,p.%3D,ENST00000254958,;JAG1,upstream_gene_variant,,ENST00000423891,;	945	154	160	SUCCESS
PTPRT	11122	.	GRCh37	20	40980734	40980734	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	9	119	0	ENST00000373198.4:c.1752C>A	p.Thr584=	p.T584=	ENST00000373198	NM_133170.3	584	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42874.1	1752	MUTECT|MUSE	.	ATTTTGGTGGC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000362283	.	10/31	.	.	.	.	.	.	.	.	COSM723634	10/31	nonpreferredpair	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,synonymous_variant,p.%3D,ENST00000373201,;PTPRT,synonymous_variant,p.%3D,ENST00000356100,;PTPRT,synonymous_variant,p.%3D,ENST00000373198,;PTPRT,synonymous_variant,p.%3D,ENST00000373193,;PTPRT,synonymous_variant,p.%3D,ENST00000373184,;PTPRT,synonymous_variant,p.%3D,ENST00000373190,;PTPRT,synonymous_variant,p.%3D,ENST00000373187,;	1752	119	124	SUCCESS
BMP7	655	.	GRCh37	20	55841132	55841132	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	55	0	ENST00000395863.3:c.47C>A	p.Ala16Glu	p.A16E	ENST00000395863	NM_001719.2	16	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS13455.1	47	MUTECT|MUSE	.	AGAGCGCCACG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135	.	.	ENSP00000379204	.	1/7	.	.	.	.	.	.	.	.	.	1/7	nonpreferredpair	ENST00000395863	Transcript	.	.	ENSG00000101144	1074	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.048)	.	tolerated_low_confidence(0.1)	.	BMP7_HUMAN	BMP7	HGNC	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN	.	UPI00000349AD	SNV	BMP7,missense_variant,p.Ala16Glu,ENST00000395863,;BMP7,missense_variant,p.Ala16Glu,ENST00000450594,;BMP7,missense_variant,p.Ala16Glu,ENST00000395864,;BMP7,upstream_gene_variant,,ENST00000433911,;RP4-813D12.3,upstream_gene_variant,,ENST00000412321,;RP4-813D12.3,upstream_gene_variant,,ENST00000426580,;	553	55	31	SUCCESS
PCK1	5105	.	GRCh37	20	56139664	56139664	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	45	0	ENST00000319441.4:c.1313C>T	p.Pro438Leu	p.P438L	ENST00000319441	NM_002591.3	438	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13460.1	1313	RADIA|MUTECT|MUSE|VARSCANS	.	TAGACCTGCTG	NONE	.	.	HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Gene3D:3.90.228.20,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795	.	.	ENSP00000319814	.	8/10	.	.	.	.	.	.	.	.	COSM3963705	8/10	nonpreferredpair	ENST00000319441	Transcript	1	.	ENSG00000124253	8724	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PCKGC_HUMAN	PCK1	HGNC	.	.	UPI000013CB5A	SNV	PCK1,missense_variant,p.Pro438Leu,ENST00000319441,;PCK1,missense_variant,p.Pro121Leu,ENST00000543666,;PCK1,3_prime_UTR_variant,,ENST00000535860,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	1477	45	37	SUCCESS
SLC25A18	83733	.	GRCh37	22	18066243	18066243	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs577110067	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	4	115	1	ENST00000327451.6:c.352G>A	p.Val118Met	p.V118M	ENST00000327451	NM_031481.1	118	Gtg/Atg	0	.	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS13744.1	352	MUTECT|MUSE	.	AGGTCGTGGTG	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF252,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	A:0	.	ENSP00000329033	A:0	7/11	.	.	.	.	.	.	.	.	rs577110067	7/11	nonpreferredpair	ENST00000327451	Transcript	.	A:0.0010	ENSG00000182902	10988	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.863)	A:0.0051	deleterious(0)	.	GHC2_HUMAN	SLC25A18	HGNC	.	.	UPI00000015FA	SNV	SLC25A18,missense_variant,p.Val118Met,ENST00000327451,;SLC25A18,missense_variant,p.Val118Met,ENST00000399813,;AC004019.13,intron_variant,,ENST00000443935,;SLC25A18,non_coding_transcript_exon_variant,,ENST00000497401,;SLC25A18,downstream_gene_variant,,ENST00000467228,;	890	116	102	SUCCESS
ASCC2	84164	.	GRCh37	22	30202864	30202865	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	72	0	ENST00000307790.3:c.937_938del	p.Ser313ProfsTer28	p.S313Pfs*28	ENST00000307790	NM_032204.4	313	TCc/c	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS13869.1	937-938	VARSCANI*|PINDEL	.	GAATGGGAGAGCC	NONE	.	.	hmmpanther:PTHR21494,hmmpanther:PTHR21494:SF0	.	.	ENSP00000380877	.	11/21	.	.	.	.	.	.	.	.	.	11/21	nonpreferredpair	ENST00000397771	Transcript	.	.	ENSG00000100325	24103	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASCC2_HUMAN	ASCC2	HGNC	B1AH59_HUMAN	.	UPI000006E83B	deletion	ASCC2,frameshift_variant,p.Ser313ProfsTer28,ENST00000307790,;ASCC2,frameshift_variant,p.Ser237ProfsTer28,ENST00000542393,;ASCC2,frameshift_variant,p.Ser313ProfsTer28,ENST00000397771,;ASCC2,upstream_gene_variant,,ENST00000411532,;ASCC2,non_coding_transcript_exon_variant,,ENST00000464287,;ASCC2,non_coding_transcript_exon_variant,,ENST00000478812,;ASCC2,non_coding_transcript_exon_variant,,ENST00000472433,;ASCC2,3_prime_UTR_variant,,ENST00000458594,;ASCC2,upstream_gene_variant,,ENST00000487486,;	1115-1116	72	61	SUCCESS
RANGAP1	5905	.	GRCh37	22	41652812	41652812	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs567605253	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	9	66	0	ENST00000356244.3:c.791G>A	p.Arg264Gln	p.R264Q	ENST00000356244	NM_002883.3	264	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS14012.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCGCAAG	NONE	by1000G	.	hmmpanther:PTHR24113:SF5,hmmpanther:PTHR24113,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	T:0	.	ENSP00000401470	T:0	7/15	.	.	.	.	.	.	.	.	rs567605253	7/15	nonpreferredpair	ENST00000455915	Transcript	.	T:0.0002	ENSG00000100401	9854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	T:0	tolerated(0.28)	.	RAGP1_HUMAN	RANGAP1	HGNC	Q9BSK3_HUMAN,Q8WUS7_HUMAN,B4E0U0_HUMAN,B0QYT6_HUMAN,B0QYT5_HUMAN,B0QYT4_HUMAN	.	UPI0000000DD9	SNV	RANGAP1,missense_variant,p.Arg264Gln,ENST00000455915,;RANGAP1,missense_variant,p.Arg264Gln,ENST00000356244,;RANGAP1,missense_variant,p.Arg264Gln,ENST00000405486,;RANGAP1,missense_variant,p.Arg209Gln,ENST00000407260,;RANGAP1,missense_variant,p.Arg160Gln,ENST00000446258,;	2261	66	67	SUCCESS
DDX18	8886	.	GRCh37	2	118575029	118575029	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1417732613	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	28	0	ENST00000263239.2:c.95A>G	p.Asn32Ser	p.N32S	ENST00000263239	NM_006773.3	32	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS2120.1	95	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAATCTGA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF171	.	.	ENSP00000263239	.	2/14	.	.	.	.	.	.	.	.	.	2/14	nonpreferredpair	ENST00000263239	Transcript	.	.	ENSG00000088205	2741	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.47)	.	DDX18_HUMAN	DDX18	HGNC	Q53TI6_HUMAN,Q4ZG72_HUMAN	.	UPI000012907E	SNV	DDX18,missense_variant,p.Asn32Ser,ENST00000263239,;DDX18,upstream_gene_variant,,ENST00000415038,;DDX18,non_coding_transcript_exon_variant,,ENST00000474694,;DDX18,upstream_gene_variant,,ENST00000489933,;	223	28	22	SUCCESS
PSMD1	5707	.	GRCh37	2	231927267	231927267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	49	0	ENST00000308696.6:c.182C>T	p.Ala61Val	p.A61V	ENST00000308696	NM_002807.3	61	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2482.1	182	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCTTAG	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947,Superfamily_domains:SSF48371	.	.	ENSP00000309474	.	4/25	.	.	.	.	.	.	.	.	.	4/25	nonpreferredpair	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Ala61Val,ENST00000409643,;PSMD1,missense_variant,p.Ala61Val,ENST00000440838,;PSMD1,missense_variant,p.Ala61Val,ENST00000373635,;PSMD1,missense_variant,p.Ala61Val,ENST00000308696,;PSMD1,upstream_gene_variant,,ENST00000444007,;PSMD1,intron_variant,,ENST00000431051,;	344	49	47	SUCCESS
NDUFAF7	55471	.	GRCh37	2	37474750	37474750	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs758326561	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	15	68	0	ENST00000002125.4:c.1088T>C	p.Met363Thr	p.M363T	ENST00000002125	NM_144736.4	363	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS1788.1	1088	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATGGGTA	NONE	.	.	hmmpanther:PTHR12049,hmmpanther:PTHR12049:SF5,Superfamily_domains:SSF53335	.	.	ENSP00000002125	.	9/10	.	.	.	.	.	.	.	.	rs758326561	9/10	nonpreferredpair	ENST00000002125	Transcript	.	.	ENSG00000003509	28816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	NDUF7_HUMAN	NDUFAF7	HGNC	C9JS27_HUMAN,C9JP36_HUMAN,C9JEL7_HUMAN,C9J236_HUMAN	.	UPI000004A041	SNV	NDUFAF7,missense_variant,p.Met363Thr,ENST00000002125,;NDUFAF7,missense_variant,p.Met265Thr,ENST00000336237,;NDUFAF7,downstream_gene_variant,,ENST00000431821,;NDUFAF7,downstream_gene_variant,,ENST00000439218,;PRKD3,downstream_gene_variant,,ENST00000234179,;PRKD3,downstream_gene_variant,,ENST00000379066,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000419278,;NDUFAF7,downstream_gene_variant,,ENST00000483999,;NDUFAF7,missense_variant,p.Met51Thr,ENST00000441905,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474154,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474257,;NDUFAF7,downstream_gene_variant,,ENST00000455230,;	1128	68	102	SUCCESS
SOCS5	9655	.	GRCh37	2	46986955	46986955	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	25	206	0	ENST00000306503.5:c.1286G>A	p.Arg429Gln	p.R429Q	ENST00000306503	NM_014011.4	429	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS1830.1	1286	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGAATTG	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF28,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000305133	.	2/2	.	.	.	.	.	.	.	.	COSM76543,COSM721746	2/2	nonpreferredpair	ENST00000306503	Transcript	.	.	ENSG00000171150	16852	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.817)	.	deleterious(0.02)	1,1	SOCS5_HUMAN	SOCS5	HGNC	B4DL10_HUMAN	.	UPI0000135B69	SNV	SOCS5,missense_variant,p.Arg429Gln,ENST00000394861,;SOCS5,missense_variant,p.Arg429Gln,ENST00000306503,;	1458	206	201	SUCCESS
WDR92	0	.	GRCh37	2	68365900	68365900	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs35021866	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	7	94	0	ENST00000295121.6:c.607C>T	p.Arg203Trp	p.R203W	ENST00000295121	NM_138458.3	203	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1884.1	607	MUTECT|MUSE|VARSCANS	.	CCACCGTAATG	NONE	byCluster	.	hmmpanther:PTHR10971:SF2,hmmpanther:PTHR10971,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000295121	.	5/8	.	.	.	.	.	.	.	.	rs35021866	5/8	nonpreferredpair	ENST00000295121	Transcript	.	.	ENSG00000243667	25176	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	WDR92_HUMAN	WDR92	HGNC	Q8ND98_HUMAN,Q86YQ0_HUMAN	.	UPI000006F50D	SNV	WDR92,missense_variant,p.Arg203Trp,ENST00000409164,;WDR92,missense_variant,p.Arg102Trp,ENST00000406245,;WDR92,missense_variant,p.Arg7Trp,ENST00000457114,;WDR92,missense_variant,p.Arg203Trp,ENST00000295121,;WDR92,non_coding_transcript_exon_variant,,ENST00000492039,;RP11-474G23.1,3_prime_UTR_variant,,ENST00000406334,;	724	94	95	SUCCESS
ASAP2	8853	.	GRCh37	2	9347355	9347355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	67	0	ENST00000281419.3:c.122A>T	p.Glu41Val	p.E41V	ENST00000281419	NM_003887.2	41	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS1661.1	122	MUTECT|MUSE	.	CATCGAGGAGG	NONE	.	.	Superfamily_domains:SSF103657,Gene3D:1.20.1270.60	.	.	ENSP00000281419	.	1/28	.	.	.	.	.	.	.	.	.	1/28	nonpreferredpair	ENST00000281419	Transcript	.	.	ENSG00000151693	2721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	deleterious(0)	.	ASAP2_HUMAN	ASAP2	HGNC	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN	.	UPI0000073459	SNV	ASAP2,missense_variant,p.Glu41Val,ENST00000281419,;ASAP2,missense_variant,p.Glu41Val,ENST00000315273,;	462	67	47	SUCCESS
ITPRIPL1	150771	.	GRCh37	2	96992598	96992598	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	117	0	ENST00000439118.2:c.229A>G	p.Thr77Ala	p.T77A	ENST00000439118	NM_001008949.2	77	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33250.1	253	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGACAGGA	NONE	.	.	hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF40	.	.	ENSP00000355121	.	1/1	.	.	.	.	.	.	.	.	COSM145524	1/1	nonpreferredpair	ENST00000361124	Transcript	.	.	ENSG00000198885	29371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	tolerated(0.72)	1	IPIL1_HUMAN	ITPRIPL1	HGNC	F5H1L8_HUMAN,C9JNT4_HUMAN	.	UPI0000207C75	SNV	ITPRIPL1,missense_variant,p.Thr85Ala,ENST00000361124,;ITPRIPL1,missense_variant,p.Thr77Ala,ENST00000439118,;ITPRIPL1,missense_variant,p.Thr109Ala,ENST00000420728,;ITPRIPL1,missense_variant,p.Thr69Ala,ENST00000420176,;ITPRIPL1,missense_variant,p.Thr69Ala,ENST00000536814,;ITPRIPL1,missense_variant,p.Thr69Ala,ENST00000542887,;	664	117	129	SUCCESS
DPPA2	151871	.	GRCh37	3	109028174	109028174	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	17	88	0	ENST00000478945.1:c.185A>G	p.His62Arg	p.H62R	ENST00000478945	NM_138815.3	62	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS2956.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATGACCT	NONE	.	.	hmmpanther:PTHR16073:SF7,hmmpanther:PTHR16073	.	.	ENSP00000417710	.	4/9	.	.	.	.	.	.	.	.	.	4/9	nonpreferredpair	ENST00000478945	Transcript	.	.	ENSG00000163530	19197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.29)	.	DPPA2_HUMAN	DPPA2	HGNC	.	.	UPI000007143F	SNV	DPPA2,missense_variant,p.His62Arg,ENST00000478945,;	432	88	104	SUCCESS
ILDR1	286676	.	GRCh37	3	121712594	121712594	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	17	185	0	ENST00000344209.5:c.1002A>T	p.Pro334=	p.P334=	ENST00000344209	NM_001199799.1	334	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS56271.1	1002	MUTECT|MUSE|VARSCANS	.	ATCAGTGGGGG	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3	.	.	ENSP00000345667	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000344209	Transcript	.	.	ENSG00000145103	28741	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ILDR1_HUMAN	ILDR1	HGNC	.	.	UPI00003FF1E2	SNV	ILDR1,synonymous_variant,p.%3D,ENST00000393631,;ILDR1,synonymous_variant,p.%3D,ENST00000273691,;ILDR1,synonymous_variant,p.%3D,ENST00000344209,;ILDR1,synonymous_variant,p.%3D,ENST00000462014,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;	1129	185	169	SUCCESS
EFCAB12	90288	.	GRCh37	3	129147317	129147317	+	synonymous_variant	Silent	SNP	A	A	G	rs762437291	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	32	204	0	ENST00000326085.3:c.15T>C	p.Tyr5=	p.Y5=	ENST00000326085		5	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS54638.1	15	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCATAGTC	NONE	.	.	.	.	.	ENSP00000420854	.	1/9	.	.	.	.	.	.	.	.	rs762437291	1/9	nonpreferredpair	ENST00000505956	Transcript	.	.	ENSG00000172771	28061	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EFC12_HUMAN	EFCAB12	HGNC	.	.	UPI00001C1DE1	SNV	EFCAB12,start_lost,p.Met1?,ENST00000503957,;EFCAB12,synonymous_variant,p.%3D,ENST00000505956,;EFCAB12,synonymous_variant,p.%3D,ENST00000326085,;MBD4,downstream_gene_variant,,ENST00000393278,;MBD4,downstream_gene_variant,,ENST00000503197,;MBD4,downstream_gene_variant,,ENST00000249910,;MBD4,downstream_gene_variant,,ENST00000429544,;MBD4,downstream_gene_variant,,ENST00000507208,;MBD4,downstream_gene_variant,,ENST00000515266,;MBD4,downstream_gene_variant,,ENST00000509828,;MBD4,downstream_gene_variant,,ENST00000511009,;	178	204	234	SUCCESS
ACAD11	84129	.	GRCh37	3	132297694	132297694	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1039377839	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	44	0	ENST00000264990.6:c.1720A>G	p.Met574Val	p.M574V	ENST00000264990	NM_032169.4	574	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS3074.1	1720	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATGGGAA	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF195,Gene3D:2.40.110.10,Superfamily_domains:SSF56645	.	.	ENSP00000264990	.	15/20	.	.	.	.	.	.	.	.	.	15/20	nonpreferredpair	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.11)	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,missense_variant,p.Met574Val,ENST00000264990,;ACAD11,missense_variant,p.Met99Val,ENST00000545291,;ACAD11,intron_variant,,ENST00000355458,;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,3_prime_UTR_variant,,ENST00000485198,;ACAD11,3_prime_UTR_variant,,ENST00000510100,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000477604,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,downstream_gene_variant,,ENST00000487024,;	2692	44	60	SUCCESS
A4GNT	51146	.	GRCh37	3	137843669	137843669	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376190351	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	128	0	ENST00000236709.3:c.460C>T	p.Arg154Cys	p.R154C	ENST00000236709	NM_016161.2	154	Cgc/Tgc	0	T:0.0002	.	.	.	.	A	R/C	protein_coding	YES	CCDS3097.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGGGATG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF53448,Pfam_domain:PF04488,hmmpanther:PTHR12042:SF16,hmmpanther:PTHR12042	.	T:0	ENSP00000236709	.	3/3	.	.	.	.	.	.	.	.	rs376190351,COSM268542	3/3	nonpreferredpair	ENST00000236709	Transcript	.	.	ENSG00000118017	17968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	A4GCT_HUMAN	A4GNT	HGNC	.	.	UPI000003FF93	SNV	A4GNT,missense_variant,p.Arg154Cys,ENST00000236709,;	662	128	122	SUCCESS
ATP1B3	483	.	GRCh37	3	141632520	141632520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	17	100	0	ENST00000286371.3:c.373C>A	p.Leu125Ile	p.L125I	ENST00000286371	NM_001679.2	125	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS3121.1	373	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCTCACA	NONE	.	.	hmmpanther:PTHR11523,hmmpanther:PTHR11523:SF14,Pfam_domain:PF00287,Gene3D:2zxeB02,TIGRFAM_domain:TIGR01107	.	.	ENSP00000286371	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000286371	Transcript	.	.	ENSG00000069849	806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.869)	.	tolerated(0.4)	.	AT1B3_HUMAN	ATP1B3	HGNC	Q58I18_HUMAN,C9JA36_HUMAN	.	UPI0000000CBB	SNV	ATP1B3,missense_variant,p.Leu125Ile,ENST00000286371,;ATP1B3,missense_variant,p.Leu111Ile,ENST00000495216,;ATP1B3,missense_variant,p.Leu111Ile,ENST00000539728,;ATP1B3,missense_variant,p.Leu68Ile,ENST00000475483,;ATP1B3,intron_variant,,ENST00000462082,;ATP1B3-AS1,downstream_gene_variant,,ENST00000492725,;ATP1B3,3_prime_UTR_variant,,ENST00000466678,;ATP1B3,3_prime_UTR_variant,,ENST00000465172,;ATP1B3,non_coding_transcript_exon_variant,,ENST00000482635,;ATP1B3,upstream_gene_variant,,ENST00000487199,;	561	100	109	SUCCESS
SLC9A9	285195	.	GRCh37	3	143292967	143292967	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	331	60	352	0	ENST00000316549.6:c.963G>A	p.Trp321Ter	p.W321*	ENST00000316549	NM_173653.3	321	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS33872.1	963	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCCAAGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000320246	.	8/16	.	.	.	.	.	.	.	.	.	8/16	nonpreferredpair	ENST00000316549	Transcript	.	.	ENSG00000181804	20653	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SL9A9_HUMAN	SLC9A9	HGNC	.	.	UPI0000074664	SNV	SLC9A9,stop_gained,p.Trp321Ter,ENST00000316549,;SLC9A9,non_coding_transcript_exon_variant,,ENST00000483124,;	1172	352	391	SUCCESS
PLSCR5	389158	.	GRCh37	3	146318107	146318107	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	43	0	ENST00000443512.1:c.157A>T	p.Ser53Cys	p.S53C	ENST00000443512	NM_001085420.1	53	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS46931.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACTGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF25,Pfam_domain:PF03803	.	.	ENSP00000390111	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000443512	Transcript	.	.	ENSG00000231213	19952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.02)	.	PLS5_HUMAN	PLSCR5	HGNC	.	.	UPI0000425F34	SNV	PLSCR5,missense_variant,p.Ser53Cys,ENST00000492200,;PLSCR5,missense_variant,p.Ser53Cys,ENST00000443512,;PLSCR5,splice_region_variant,,ENST00000482567,;	1161	43	42	SUCCESS
SIAH2	6478	.	GRCh37	3	150460068	150460068	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	292	42	273	0	ENST00000312960.3:c.835A>G	p.Thr279Ala	p.T279A	ENST00000312960	NM_005067.5	279	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3152.1	835	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGTGGCCT	BUFFER|p.R281H|c.842G>A|3	.	.	hmmpanther:PTHR10315:SF11,hmmpanther:PTHR10315,Pfam_domain:PF03145,Gene3D:2.60.210.10,Superfamily_domains:SSF49599	.	.	ENSP00000322457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000312960	Transcript	.	.	ENSG00000181788	10858	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.033)	.	tolerated(0.06)	.	SIAH2_HUMAN	SIAH2	HGNC	C9J9D7_HUMAN	.	UPI0000071280	SNV	SIAH2,missense_variant,p.Thr279Ala,ENST00000312960,;SIAH2,downstream_gene_variant,,ENST00000482706,;	1363	273	334	SUCCESS
HACL1	26061	.	GRCh37	3	15613198	15613198	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	51	0	ENST00000321169.5:c.1072A>T	p.Lys358Ter	p.K358*	ENST00000321169	NM_012260.2	358	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2627.1	1072	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCATTT	NONE	.	.	hmmpanther:PTHR18968:SF6,hmmpanther:PTHR18968,Gene3D:3.40.50.1220,Superfamily_domains:SSF52467	.	.	ENSP00000323811	.	12/17	.	.	.	.	.	.	.	.	.	12/17	nonpreferredpair	ENST00000321169	Transcript	.	.	ENSG00000131373	17856	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HACL1_HUMAN	HACL1	HGNC	.	.	UPI000012CB25	SNV	HACL1,stop_gained,p.Lys331Ter,ENST00000456194,;HACL1,stop_gained,p.Lys117Ter,ENST00000435217,;HACL1,stop_gained,p.Lys276Ter,ENST00000451445,;HACL1,stop_gained,p.Lys358Ter,ENST00000321169,;HACL1,intron_variant,,ENST00000457447,;HACL1,3_prime_UTR_variant,,ENST00000422591,;HACL1,3_prime_UTR_variant,,ENST00000383779,;	1440	51	42	SUCCESS
VEPH1	79674	.	GRCh37	3	157188168	157188168	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs565482063	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	21	115	0	ENST00000362010.2:c.289T>A	p.Phe97Ile	p.F97I	ENST00000362010	NM_001167912.1	97	Ttt/Att	0	.	G:0	.	G:0.0014	.	T	F/I	protein_coding	YES	CCDS3179.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAAGGGTC	NONE	by1000G	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Superfamily_domains:SSF48371	G:0	.	ENSP00000354919	G:0	3/14	.	.	.	.	.	.	.	.	rs565482063	3/14	nonpreferredpair	ENST00000362010	Transcript	.	G:0.0002	ENSG00000197415	25735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	G:0	deleterious(0.03)	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,missense_variant,p.Phe97Ile,ENST00000537559,;VEPH1,missense_variant,p.Phe97Ile,ENST00000392833,;VEPH1,missense_variant,p.Phe97Ile,ENST00000362010,;VEPH1,missense_variant,p.Phe97Ile,ENST00000392832,;VEPH1,missense_variant,p.Phe97Ile,ENST00000543418,;VEPH1,missense_variant,p.Phe97Ile,ENST00000494677,;VEPH1,missense_variant,p.Phe97Ile,ENST00000487753,;VEPH1,missense_variant,p.Phe97Ile,ENST00000468233,;VEPH1,5_prime_UTR_variant,,ENST00000479987,;VEPH1,downstream_gene_variant,,ENST00000461299,;VEPH1,downstream_gene_variant,,ENST00000489602,;VEPH1,non_coding_transcript_exon_variant,,ENST00000490235,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482434,;VEPH1,downstream_gene_variant,,ENST00000475050,;VEPH1,downstream_gene_variant,,ENST00000473907,;	597	115	140	SUCCESS
VEPH1	79674	.	GRCh37	3	157188169	157188169	+	synonymous_variant	Silent	SNP	G	G	T	rs751228313	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	19	112	1	ENST00000362010.2:c.288C>A	p.Pro96=	p.P96=	ENST00000362010	NM_001167912.1	96	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3179.1	288	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGGGTCT	NONE	byFrequency	.	hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Superfamily_domains:SSF48371	.	.	ENSP00000354919	.	3/14	.	.	.	.	.	.	.	.	rs751228313	3/14	nonpreferredpair	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,synonymous_variant,p.%3D,ENST00000537559,;VEPH1,synonymous_variant,p.%3D,ENST00000392833,;VEPH1,synonymous_variant,p.%3D,ENST00000362010,;VEPH1,synonymous_variant,p.%3D,ENST00000392832,;VEPH1,synonymous_variant,p.%3D,ENST00000543418,;VEPH1,synonymous_variant,p.%3D,ENST00000494677,;VEPH1,synonymous_variant,p.%3D,ENST00000487753,;VEPH1,synonymous_variant,p.%3D,ENST00000468233,;VEPH1,5_prime_UTR_variant,,ENST00000479987,;VEPH1,downstream_gene_variant,,ENST00000461299,;VEPH1,downstream_gene_variant,,ENST00000489602,;VEPH1,non_coding_transcript_exon_variant,,ENST00000490235,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482434,;VEPH1,downstream_gene_variant,,ENST00000475050,;VEPH1,downstream_gene_variant,,ENST00000473907,;	596	113	137	SUCCESS
TBC1D5	9779	.	GRCh37	3	17349528	17349528	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	35	161	0	ENST00000253692.7:c.1094T>C	p.Val365Ala	p.V365A	ENST00000253692	NM_014744.2	365	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS46770.1	1094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTACTAAA	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF220,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000402935	.	15/24	.	.	.	.	.	.	.	.	COSM3373085	15/24	nonpreferredpair	ENST00000446818	Transcript	.	.	ENSG00000131374	19166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.973)	.	deleterious(0)	1	TBCD5_HUMAN	TBC1D5	HGNC	F2Z3C3_HUMAN,C9K0P2_HUMAN,C9JWX0_HUMAN,C9JW04_HUMAN,C9JNM0_HUMAN,C9JMP7_HUMAN,C9JIU4_HUMAN,C9JED7_HUMAN,C9JDR8_HUMAN,C9J397_HUMAN	.	UPI00017E10F6	SNV	TBC1D5,missense_variant,p.Val317Ala,ENST00000429924,;TBC1D5,missense_variant,p.Val365Ala,ENST00000446818,;TBC1D5,missense_variant,p.Val365Ala,ENST00000429383,;TBC1D5,missense_variant,p.Val365Ala,ENST00000253692,;TBC1D5,non_coding_transcript_exon_variant,,ENST00000414318,;	1358	161	171	SUCCESS
MUC20	200958	.	GRCh37	3	195452975	195452978	+	frameshift_variant	Frame_Shift_Del	DEL	CCCA	CCCA	-	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	CCCA	CCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	285	42	316	0	ENST00000447234.2:c.1502_1505del	p.Pro501LeufsTer9	p.P501Lfs*9	ENST00000447234	NM_001282506.1	501	CCCAct/ct	0	.	.	.	.	.	-	PT/X	protein_coding	YES	CCDS63877.1	1501-1504	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACTCCCCACTAAC	BUFFER|p.A505T|c.1513G>A|5	.	.	.	.	.	ENSP00000414350	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	deletion	MUC20,frameshift_variant,p.Pro466LeufsTer9,ENST00000445522,;MUC20,frameshift_variant,p.Pro501LeufsTer9,ENST00000447234,;MUC20,frameshift_variant,p.Pro330LeufsTer9,ENST00000320736,;MUC20,frameshift_variant,p.Pro501LeufsTer9,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000594976,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,upstream_gene_variant,,ENST00000498018,;	1627-1630	316	327	SUCCESS
ZNF445	353274	.	GRCh37	3	44492403	44492403	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	8	109	0	ENST00000396077.2:c.650G>A	p.Gly217Glu	p.G217E	ENST00000396077	NM_181489.5	217	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS2713.1	650	MUTECT|MUSE	.	GGTCTCCCGGG	NONE	.	.	hmmpanther:PTHR24385:SF48,hmmpanther:PTHR24385	.	.	ENSP00000413073	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000425708	Transcript	.	.	ENSG00000185219	21018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.931)	.	tolerated(0.32)	.	ZN445_HUMAN	ZNF445	HGNC	B7ZKX2_HUMAN	.	UPI000019AD12	SNV	ZNF445,missense_variant,p.Gly217Glu,ENST00000425708,;ZNF445,missense_variant,p.Gly217Glu,ENST00000396077,;ZNF445,non_coding_transcript_exon_variant,,ENST00000460529,;ZNF445,downstream_gene_variant,,ENST00000474600,;	992	109	104	SUCCESS
ERC2	26059	.	GRCh37	3	56468548	56468548	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	18	125	0	ENST00000288221.6:c.488T>A	p.Leu163His	p.L163H	ENST00000288221	NM_015576.1	163	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS46851.1	488	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGGTCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Pfam_domain:PF10174	.	.	ENSP00000288221	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000288221	Transcript	.	.	ENSG00000187672	31922	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.951)	.	deleterious(0.03)	.	ERC2_HUMAN	ERC2	HGNC	.	.	UPI00001C1572	SNV	ERC2,missense_variant,p.Leu163His,ENST00000288221,;ERC2,non_coding_transcript_exon_variant,,ENST00000477381,;ERC2,downstream_gene_variant,,ENST00000472917,;ERC2,missense_variant,p.Leu163His,ENST00000460849,;	744	125	137	SUCCESS
ADH5	128	.	GRCh37	4	100003145	100003146	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	182	28	152	0	ENST00000296412.8:c.236dup	p.Val80SerfsTer3	p.V80Sfs*3	ENST00000296412	NM_000671.3	79	gga/ggGa	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS47111.1	236-237	INDELOCATOR*|VARSCANI*|PINDEL	.	GTAACTCCCTC	NONE	.	.	hmmpanther:PTHR11695:SF396,hmmpanther:PTHR11695,PROSITE_patterns:PS00059,Pfam_domain:PF08240,Gene3D:3.90.180.10,TIGRFAM_domain:TIGR02818,Superfamily_domains:SSF50129	.	.	ENSP00000296412	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000296412	Transcript	.	.	ENSG00000197894	253	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADHX_HUMAN	ADH5	HGNC	Q6IRT1_HUMAN,D6RFE4_HUMAN	.	UPI0000000DE6	insertion	ADH5,frameshift_variant,p.Val80SerfsTer3,ENST00000296412,;ADH5,splice_region_variant,,ENST00000503130,;ADH5,non_coding_transcript_exon_variant,,ENST00000508146,;ADH5,non_coding_transcript_exon_variant,,ENST00000512991,;ADH5,upstream_gene_variant,,ENST00000512604,;ADH5,frameshift_variant,p.Val80SerfsTer3,ENST00000502590,;ADH5,frameshift_variant,p.Val80SerfsTer3,ENST00000505652,;ADH5,3_prime_UTR_variant,,ENST00000502386,;ADH5,non_coding_transcript_exon_variant,,ENST00000507102,;ADH5,non_coding_transcript_exon_variant,,ENST00000512621,;ADH5,non_coding_transcript_exon_variant,,ENST00000508511,;ADH5,intron_variant,,ENST00000512659,;	287-288	152	210	SUCCESS
GUCY1B3	0	.	GRCh37	4	156696144	156696144	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	24	0	ENST00000264424.8:c.102A>T	p.Glu34Asp	p.E34D	ENST00000264424	NM_000857.2	34	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47154.1	102	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAGGACA	NONE	.	.	hmmpanther:PTHR11920:SF30,hmmpanther:PTHR11920,Gene3D:3sj5A00,Pfam_domain:PF07700,Superfamily_domains:SSF111126	.	.	ENSP00000264424	.	3/14	.	.	.	.	.	.	.	.	.	3/14	nonpreferredpair	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	tolerated(0.17)	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,missense_variant,p.Glu34Asp,ENST00000503520,;GUCY1B3,missense_variant,p.Glu34Asp,ENST00000264424,;GUCY1B3,missense_variant,p.Glu34Asp,ENST00000502959,;GUCY1B3,missense_variant,p.Glu14Asp,ENST00000505764,;GUCY1B3,5_prime_UTR_variant,,ENST00000513437,;GUCY1B3,5_prime_UTR_variant,,ENST00000507146,;GUCY1B3,5_prime_UTR_variant,,ENST00000505154,;	184	24	26	SUCCESS
GUCY1B3	0	.	GRCh37	4	156726268	156726268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	30	186	0	ENST00000264424.8:c.1723C>A	p.Pro575Thr	p.P575T	ENST00000264424	NM_000857.2	575	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47154.1	1723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCCAGAA	NONE	.	.	hmmpanther:PTHR11920:SF30,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000264424	.	13/14	.	.	.	.	.	.	.	.	.	13/14	nonpreferredpair	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.13)	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,missense_variant,p.Pro542Thr,ENST00000503520,;GUCY1B3,missense_variant,p.Pro507Thr,ENST00000513437,;GUCY1B3,missense_variant,p.Pro575Thr,ENST00000264424,;GUCY1B3,missense_variant,p.Pro597Thr,ENST00000502959,;GUCY1B3,missense_variant,p.Pro550Thr,ENST00000507146,;GUCY1B3,missense_variant,p.Pro555Thr,ENST00000505764,;GUCY1B3,missense_variant,p.Pro507Thr,ENST00000505154,;	1805	186	171	SUCCESS
SPOCK3	50859	.	GRCh37	4	168155168	168155168	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	23	162	0	ENST00000357154.3:c.157A>T	p.Lys53Ter	p.K53*	ENST00000357154	NM_016950.2	53	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS54817.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTTGTCAT	NONE	.	.	hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4	.	.	ENSP00000349677	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,stop_gained,p.Lys53Ter,ENST00000512648,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000512042,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000357154,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511531,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000357545,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000506886,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000510403,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511269,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000510741,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000509854,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000506697,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000541637,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000512681,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000502330,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000504953,;SPOCK3,synonymous_variant,p.%3D,ENST00000534949,;SPOCK3,5_prime_UTR_variant,,ENST00000421836,;SPOCK3,5_prime_UTR_variant,,ENST00000535728,;SPOCK3,5_prime_UTR_variant,,ENST00000541354,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000507086,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000502821,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511905,;SPOCK3,stop_gained,p.Lys17Ter,ENST00000515143,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000505187,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000515316,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000502741,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000507370,;SPOCK3,stop_gained,p.Lys53Ter,ENST00000511226,;	295	162	127	SUCCESS
RBPJ	3516	.	GRCh37	4	26426076	26426076	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762929152	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	63	0	ENST00000342295.1:c.648G>T	p.Gln216His	p.Q216H	ENST00000342295	NM_005349.3	216	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS3437.1	648	MUTECT|MUSE|VARSCANS	.	CAGCAGTGGGG	NONE	byFrequency	.	Superfamily_domains:0049692,Pfam_domain:PF09270,Gene3D:2.80.10.50,hmmpanther:PTHR10665:SF3,hmmpanther:PTHR10665	.	.	ENSP00000345206	.	7/12	.	.	.	.	.	.	.	.	rs762929152,COSM3767832,COSM3767831	7/12	nonpreferredpair	ENST00000342295	Transcript	1	.	ENSG00000168214	5724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	probably_damaging(0.958)	.	deleterious(0.03)	0,1,1	SUH_HUMAN	RBPJ	HGNC	D6RBQ8_HUMAN,D6RB37_HUMAN,D6RA45_HUMAN,D6R946_HUMAN	.	UPI000020BDF1	SNV	RBPJ,missense_variant,p.Gln201His,ENST00000345843,;RBPJ,missense_variant,p.Gln216His,ENST00000342295,;RBPJ,missense_variant,p.Gln216His,ENST00000361572,;RBPJ,missense_variant,p.Gln181His,ENST00000515573,;RBPJ,missense_variant,p.Gln202His,ENST00000355476,;RBPJ,missense_variant,p.Gln181His,ENST00000507561,;RBPJ,missense_variant,p.Gln203His,ENST00000348160,;RBPJ,missense_variant,p.Gln202His,ENST00000504907,;RBPJ,missense_variant,p.Gln202His,ENST00000342320,;RBPJ,upstream_gene_variant,,ENST00000504423,;RBPJ,downstream_gene_variant,,ENST00000514730,;RBPJ,downstream_gene_variant,,ENST00000511546,;RBPJ,downstream_gene_variant,,ENST00000504938,;RBPJ,downstream_gene_variant,,ENST00000507574,;RBPJ,downstream_gene_variant,,ENST00000510778,;RBPJ,downstream_gene_variant,,ENST00000514675,;RBPJ,downstream_gene_variant,,ENST00000512671,;RBPJ,non_coding_transcript_exon_variant,,ENST00000514380,;RBPJ,non_coding_transcript_exon_variant,,ENST00000506903,;RBPJ,downstream_gene_variant,,ENST00000511451,;RBPJ,upstream_gene_variant,,ENST00000510725,;	884	63	75	SUCCESS
HTT	3064	.	GRCh37	4	3179109	3179109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	43	0	ENST00000355072.5:c.4458G>T	p.Gln1486His	p.Q1486H	ENST00000355072	NM_002111.6	1486	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS43206.1	4458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGTTCAG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Prints_domain:PR00375	.	.	ENSP00000347184	.	34/67	.	.	.	.	.	.	.	.	.	34/67	nonpreferredpair	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Gln1486His,ENST00000355072,;HTT,downstream_gene_variant,,ENST00000509618,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000509043,;HTT,upstream_gene_variant,,ENST00000513639,;HTT,upstream_gene_variant,,ENST00000513326,;	4603	43	50	SUCCESS
AASDH	132949	.	GRCh37	4	57216008	57216008	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	19	136	0	ENST00000205214.6:c.1909A>G	p.Thr637Ala	p.T637A	ENST00000205214	NM_181806.2	637	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS3504.1	1909	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTCACAT	NONE	.	.	hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	11/15	.	.	.	.	.	.	.	.	.	11/15	nonpreferredpair	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.78)	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,missense_variant,p.Thr152Ala,ENST00000434343,;AASDH,missense_variant,p.Thr484Ala,ENST00000602986,;AASDH,missense_variant,p.Thr637Ala,ENST00000451613,;AASDH,missense_variant,p.Thr637Ala,ENST00000205214,;AASDH,missense_variant,p.Thr637Ala,ENST00000502617,;AASDH,missense_variant,p.Thr537Ala,ENST00000513376,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,3_prime_UTR_variant,,ENST00000514745,;	2090	136	129	SUCCESS
MUC7	4589	.	GRCh37	4	71346647	71346647	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	27	144	0	ENST00000304887.5:c.186C>T	p.Ser62=	p.S62=	ENST00000304887	NM_152291.2	62	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3541.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCCTATAA	NONE	.	.	.	.	.	ENSP00000407422	.	4/4	.	.	.	.	.	.	.	.	COSM3940929,COSM1430779	4/4	nonpreferredpair	ENST00000413702	Transcript	1	.	ENSG00000171195	7518	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	MUC7_HUMAN	MUC7	HGNC	D6RHX1_HUMAN	.	UPI000013E9DD	SNV	MUC7,synonymous_variant,p.%3D,ENST00000413702,;MUC7,synonymous_variant,p.%3D,ENST00000505411,;MUC7,synonymous_variant,p.%3D,ENST00000456088,;MUC7,synonymous_variant,p.%3D,ENST00000304887,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,non_coding_transcript_exon_variant,,ENST00000504482,;	474	144	147	SUCCESS
UNC5C	8633	.	GRCh37	4	96127921	96127921	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	3	80	0	ENST00000453304.1:c.1760T>C	p.Leu587Pro	p.L587P	ENST00000453304	NM_003728.3	587	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS3643.1	1760	MUTECT|MUSE	.	TCAAAAGTGTC	NONE	.	.	SMART_domains:SM00218,Pfam_domain:PF00791,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,PROSITE_profiles:PS51145	.	.	ENSP00000406022	.	11/16	.	.	.	.	.	.	.	.	.	11/16	nonpreferredpair	ENST00000453304	Transcript	.	.	ENSG00000182168	12569	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	UNC5C_HUMAN	UNC5C	HGNC	Q4W5H4_HUMAN	.	UPI000004E6A5	SNV	UNC5C,missense_variant,p.Leu606Pro,ENST00000513796,;UNC5C,missense_variant,p.Leu587Pro,ENST00000453304,;	2109	80	65	SUCCESS
PCDHA2	56146	.	GRCh37	5	140175547	140175547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	29	140	0	ENST00000526136.1:c.998A>T	p.His333Leu	p.H333L	ENST00000526136	NM_018905.2	333	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS54914.1	998	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACATTGTA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	deleterious_low_confidence(0)	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,missense_variant,p.His333Leu,ENST00000378132,;PCDHA2,missense_variant,p.His333Leu,ENST00000526136,;PCDHA2,missense_variant,p.His333Leu,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;	998	140	192	SUCCESS
FAM196B	0	.	GRCh37	5	169309899	169309899	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	20	137	0	ENST00000377365.3:c.1004A>G	p.Asn335Ser	p.N335S	ENST00000377365	NM_001129891.1	335	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS47336.1	1004	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGATTGTTA	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000366582	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000377365	Transcript	.	.	ENSG00000204767	37271	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.3)	.	F196B_HUMAN	FAM196B	HGNC	.	.	UPI0000480500	SNV	FAM196B,missense_variant,p.Asn335Ser,ENST00000377365,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000256935,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	2386	137	148	SUCCESS
TLX3	30012	.	GRCh37	5	170738472	170738472	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	249	35	303	0	ENST00000296921.5:c.745C>T	p.Gln249Ter	p.Q249*	ENST00000296921	NM_021025.2	249	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34288.1	745	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCAAAAG	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154	.	.	ENSP00000296921	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,stop_gained,p.Gln249Ter,ENST00000296921,;	827	303	285	SUCCESS
KIAA1191	57179	.	GRCh37	5	175774612	175774612	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	25	0	ENST00000298569.4:c.909T>A	p.Thr303=	p.T303=	ENST00000298569	NM_020444.3	303	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4399.1	909	MUTECT|MUSE	.	AAGCCAGTGGG	NONE	.	.	Pfam_domain:PF15302	.	.	ENSP00000298569	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000298569	Transcript	.	.	ENSG00000122203	29209	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P33MX_HUMAN	KIAA1191	HGNC	D6RF63_HUMAN,D6RCE3_HUMAN,D6RAJ7_HUMAN	.	UPI0000070560	SNV	KIAA1191,synonymous_variant,p.%3D,ENST00000393725,;KIAA1191,synonymous_variant,p.%3D,ENST00000510164,;KIAA1191,synonymous_variant,p.%3D,ENST00000298569,;KIAA1191,downstream_gene_variant,,ENST00000506983,;SIMC1,downstream_gene_variant,,ENST00000443967,;KIAA1191,downstream_gene_variant,,ENST00000533553,;SIMC1,downstream_gene_variant,,ENST00000430704,;SIMC1,downstream_gene_variant,,ENST00000332772,;SIMC1,downstream_gene_variant,,ENST00000341199,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000393728,;	1443	25	29	SUCCESS
RAI14	26064	.	GRCh37	5	34823722	34823722	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1174338142	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	29	93	0	ENST00000265109.3:c.1775A>C	p.Lys592Thr	p.K592T	ENST00000265109	NM_015577.2	592	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS54839.1	1784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAAGGAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24129	.	.	ENSP00000427123	.	17/20	.	.	.	.	.	.	.	.	.	17/20	nonpreferredpair	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	deleterious(0)	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,missense_variant,p.Lys584Thr,ENST00000506376,;RAI14,missense_variant,p.Lys592Thr,ENST00000265109,;RAI14,missense_variant,p.Lys585Thr,ENST00000397449,;RAI14,missense_variant,p.Lys595Thr,ENST00000515799,;RAI14,missense_variant,p.Lys592Thr,ENST00000428746,;RAI14,missense_variant,p.Lys563Thr,ENST00000512629,;RAI14,missense_variant,p.Lys592Thr,ENST00000503673,;RAI14,upstream_gene_variant,,ENST00000513772,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;	2276	93	138	SUCCESS
SLC9A3	6550	.	GRCh37	5	481703	481703	+	synonymous_variant	Silent	SNP	G	G	A	rs200474984	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	13	127	0	ENST00000264938.3:c.1494C>T	p.Ile498=	p.I498=	ENST00000264938	NM_004174.2	498	atC/atT	0	A:0.0002	.	.	.	.	A	I	protein_coding	YES	CCDS3855.1	1494	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGATCTG	NONE	byCluster	.	hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	.	A:0	ENSP00000264938	.	9/17	.	.	.	.	.	.	.	.	rs200474984,COSM3343123	9/17	nonpreferredpair	ENST00000264938	Transcript	.	.	ENSG00000066230	11073	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	SL9A3_HUMAN	SLC9A3	HGNC	.	.	UPI000013D597	SNV	SLC9A3,synonymous_variant,p.%3D,ENST00000514375,;SLC9A3,synonymous_variant,p.%3D,ENST00000264938,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000431004,;SLC9A3,non_coding_transcript_exon_variant,,ENST00000507407,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;	1504	127	124	SUCCESS
HTR1A	3350	.	GRCh37	5	63256701	63256701	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	17	116	1	ENST00000323865.3:c.846G>A	p.Arg282=	p.R282=	ENST00000323865	NM_000524.3	282	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS34168.1	846	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCCTCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Pfam_domain:PF00001,Prints_domain:PR00512	.	.	ENSP00000316244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000323865	Transcript	1	.	ENSG00000178394	5286	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5HT1A_HUMAN	HTR1A	HGNC	Q5ZGX3_HUMAN,D6RA34_HUMAN	.	UPI0000124F1A	SNV	HTR1A,synonymous_variant,p.%3D,ENST00000323865,;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	1080	117	120	SUCCESS
PAPD4	0	.	GRCh37	5	78940987	78940987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	21	114	0	ENST00000453514.1:c.793C>T	p.Pro265Ser	p.P265S	ENST00000453514	NM_001114394.1	265	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4048.1	793	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGCCAATT	NONE	.	.	hmmpanther:PTHR12271,Gene3D:3.30.460.10,Superfamily_domains:SSF81301	.	.	ENSP00000397563	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000453514	Transcript	.	.	ENSG00000164329	26776	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLD2_HUMAN	PAPD4	HGNC	.	.	UPI000013E386	SNV	PAPD4,missense_variant,p.Pro261Ser,ENST00000423041,;PAPD4,missense_variant,p.Pro265Ser,ENST00000504233,;PAPD4,missense_variant,p.Pro265Ser,ENST00000453514,;PAPD4,missense_variant,p.Pro265Ser,ENST00000296783,;PAPD4,missense_variant,p.Pro265Ser,ENST00000428308,;PAPD4,upstream_gene_variant,,ENST00000504982,;PAPD4,upstream_gene_variant,,ENST00000513735,;PAPD4,non_coding_transcript_exon_variant,,ENST00000509227,;	1486	114	159	SUCCESS
TMEM14C	51522	.	GRCh37	6	10728899	10728899	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1282771288	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	72	0	ENST00000229563.5:c.226A>G	p.Met76Val	p.M76V	ENST00000229563	NM_016462.3	76	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS4514.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTATGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12668:SF4,hmmpanther:PTHR12668,Pfam_domain:PF03647	.	.	ENSP00000444561	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000541412	Transcript	.	.	ENSG00000111843	20952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	deleterious(0)	.	TM14C_HUMAN	TMEM14C	HGNC	.	.	UPI000003BBD6	SNV	TMEM14C,missense_variant,p.Met76Val,ENST00000541412,;TMEM14C,missense_variant,p.Met76Val,ENST00000229563,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000467415,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000466421,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000495549,;	611	72	75	SUCCESS
HLA-F-AS1	285830	.	GRCh37	6	29713506	29713506	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	55	0	ENST00000458236.1:n.95-2A>T		p.X32_splice	ENST00000458236		32		0	.	.	.	.	.	A	.	misc_RNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCTGGGGA	NONE	.	4642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000362420	Transcript	.	.	ENSG00000199290	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	Y_RNA	RFAM	.	.	.	SNV	Y_RNA,upstream_gene_variant,,ENST00000362420,;HLA-F-AS1,splice_acceptor_variant,,ENST00000458236,;HLA-F-AS1,intron_variant,,ENST00000399247,;MICE,splice_acceptor_variant,,ENST00000510438,;HCG9P5,upstream_gene_variant,,ENST00000435408,;IFITM4P,downstream_gene_variant,,ENST00000441380,;	.	55	57	SUCCESS
MSH5	4439	.	GRCh37	6	31726633	31726633	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	27	163	0	ENST00000375750.3:c.1307G>A	p.Ser436Asn	p.S436N	ENST00000375750	NM_172165.3	436	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS34410.1	1307	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAGTGTCA	NONE	.	.	Superfamily_domains:SSF48334,SMART_domains:SM00533,Pfam_domain:PF05192,Pfam_domain:PF05190,hmmpanther:PTHR11361:SF20,hmmpanther:PTHR11361	.	.	ENSP00000364855	.	15/25	.	.	.	.	.	.	.	.	.	15/25	nonpreferredpair	ENST00000375703	Transcript	.	.	ENSG00000204410	7328	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.053)	.	tolerated(0.56)	.	MSH5_HUMAN	MSH5	HGNC	Q5SSR2_HUMAN	.	UPI0000070722	SNV	MSH5,missense_variant,p.Ser110Asn,ENST00000395853,;MSH5,missense_variant,p.Ser453Asn,ENST00000375740,;MSH5,missense_variant,p.Ser436Asn,ENST00000375755,;MSH5,missense_variant,p.Ser436Asn,ENST00000375750,;MSH5,missense_variant,p.Ser453Asn,ENST00000534153,;MSH5,missense_variant,p.Ser278Asn,ENST00000450148,;MSH5,missense_variant,p.Ser453Asn,ENST00000375742,;MSH5,missense_variant,p.Ser436Asn,ENST00000375703,;MSH5,missense_variant,p.Ser135Asn,ENST00000431848,;SAPCD1,upstream_gene_variant,,ENST00000415669,;SAPCD1,upstream_gene_variant,,ENST00000425424,;MSH5,upstream_gene_variant,,ENST00000429846,;SAPCD1,upstream_gene_variant,,ENST00000433778,;RNU6-850P,upstream_gene_variant,,ENST00000516934,;MSH5,non_coding_transcript_exon_variant,,ENST00000468602,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000491552,;MSH5-SAPCD1,missense_variant,p.Ser453Asn,ENST00000493662,;MSH5,missense_variant,p.Ser436Asn,ENST00000423982,;MSH5,3_prime_UTR_variant,,ENST00000463144,;MSH5,non_coding_transcript_exon_variant,,ENST00000467319,;MSH5,non_coding_transcript_exon_variant,,ENST00000468136,;MSH5,upstream_gene_variant,,ENST00000494646,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000498473,;SAPCD1,upstream_gene_variant,,ENST00000494299,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000476085,;MSH5,upstream_gene_variant,,ENST00000484309,;MSH5,upstream_gene_variant,,ENST00000494458,;MSH5,downstream_gene_variant,,ENST00000497269,;	1362	163	197	SUCCESS
KIF6	221458	.	GRCh37	6	39607439	39607439	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	15	135	0	ENST00000287152.7:c.346G>A	p.Asp116Asn	p.D116N	ENST00000287152	NM_145027.4	116	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4844.1	346	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCACTGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115,PROSITE_profiles:PS50067	.	.	ENSP00000287152	.	4/23	.	.	.	.	.	.	.	.	.	4/23	nonpreferredpair	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,missense_variant,p.Asp116Asn,ENST00000287152,;KIF6,missense_variant,p.Asp116Asn,ENST00000373215,;KIF6,missense_variant,p.Asp116Asn,ENST00000373216,;KIF6,missense_variant,p.Asp116Asn,ENST00000538893,;KIF6,missense_variant,p.Asp8Asn,ENST00000458470,;KIF6,downstream_gene_variant,,ENST00000482238,;	441	135	129	SUCCESS
LRFN2	57497	.	GRCh37	6	40360391	40360391	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	77	0	ENST00000338305.6:c.1661T>C	p.Met554Thr	p.M554T	ENST00000338305	NM_020737.1	554	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS34443.1	1661	RADIA|MUTECT|MUSE|VARSCANS	.	GCACCATGAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	.	ENSP00000345985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.782)	.	deleterious(0.01)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Met554Thr,ENST00000338305,;	2204	77	92	SUCCESS
TNFRSF21	27242	.	GRCh37	6	47251729	47251729	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	87	0	ENST00000296861.2:c.1188A>T	p.Lys396Asn	p.K396N	ENST00000296861	NM_014452.4	396	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4921.1	1188	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATTTCTT	NONE	.	.	hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097,SMART_domains:SM00005,Prints_domain:PR01971	.	.	ENSP00000296861	.	3/6	.	.	.	.	.	.	.	.	.	3/6	nonpreferredpair	ENST00000296861	Transcript	.	.	ENSG00000146072	13469	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	TNR21_HUMAN	TNFRSF21	HGNC	.	.	UPI000004680F	SNV	TNFRSF21,missense_variant,p.Lys396Asn,ENST00000296861,;	1582	87	113	SUCCESS
CDYL	9425	.	GRCh37	6	4892439	4892439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	22	122	0	ENST00000328908.5:c.679C>A	p.Gln227Lys	p.Q227K	ENST00000328908		227	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS4491.2	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCAGGAG	NONE	.	.	.	.	.	ENSP00000380718	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000397588	Transcript	.	.	ENSG00000153046	1811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.22)	.	CDYL1_HUMAN	CDYL	HGNC	.	.	UPI0000160F23	SNV	CDYL,missense_variant,p.Gln41Lys,ENST00000449732,;CDYL,missense_variant,p.Gln41Lys,ENST00000343762,;CDYL,missense_variant,p.Gln173Lys,ENST00000397588,;CDYL,missense_variant,p.Gln227Lys,ENST00000328908,;CDYL,intron_variant,,ENST00000440139,;CDYL,non_coding_transcript_exon_variant,,ENST00000483019,;CDYL,intron_variant,,ENST00000472453,;CDYL,downstream_gene_variant,,ENST00000491864,;	866	122	118	SUCCESS
FBXO24	26261	.	GRCh37	7	100192090	100192090	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	13	114	0	ENST00000241071.6:c.878A>G	p.Lys293Arg	p.K293R	ENST00000241071	NM_033506.2	293	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5699.2	992	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAAGGTGT	NONE	.	.	hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000416558	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.292)	.	tolerated(0.08)	.	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,missense_variant,p.Lys279Arg,ENST00000360609,;FBXO24,missense_variant,p.Lys279Arg,ENST00000465843,;FBXO24,missense_variant,p.Lys331Arg,ENST00000427939,;FBXO24,missense_variant,p.Lys293Arg,ENST00000241071,;FBXO24,missense_variant,p.Lys281Arg,ENST00000468962,;FBXO24,downstream_gene_variant,,ENST00000466053,;FBXO24,downstream_gene_variant,,ENST00000461079,;PCOLCE-AS1,intron_variant,,ENST00000442166,;PCOLCE-AS1,intron_variant,,ENST00000544873,;FBXO24,downstream_gene_variant,,ENST00000498195,;FBXO24,3_prime_UTR_variant,,ENST00000488079,;FBXO24,downstream_gene_variant,,ENST00000474649,;	1004	114	110	SUCCESS
LHFPL3	375612	.	GRCh37	7	103969504	103969504	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	69	0	ENST00000424859.1:c.235A>G	p.Ser79Gly	p.S79G	ENST00000424859	NM_199000.2	79	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	.	277	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCAGCTTC	NONE	.	.	Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13	.	.	ENSP00000444350	.	1/5	.	.	.	.	.	.	.	.	COSM3831516,COSM3831517	1/5	nonpreferredpair	ENST00000535008	Transcript	.	.	ENSG00000187416	6589	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.318)	.	tolerated(0.22)	1,1	.	LHFPL3	HGNC	F5GZM2_HUMAN	.	UPI0002065540	SNV	LHFPL3,missense_variant,p.Ser79Gly,ENST00000401970,;LHFPL3,missense_variant,p.Ser79Gly,ENST00000424859,;LHFPL3,missense_variant,p.Ser93Gly,ENST00000543266,;LHFPL3,missense_variant,p.Ser93Gly,ENST00000535008,;	401	69	59	SUCCESS
PODXL	5420	.	GRCh37	7	131195912	131195912	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs767012209	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	41	172	0	ENST00000378555.3:c.381A>C	p.Lys127Asn	p.K127N	ENST00000378555		127	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS34755.1	381	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTTTTTGT	NONE	.	.	PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067,Low_complexity_(Seg):seg	.	.	ENSP00000367817	.	2/9	.	.	.	.	.	.	.	.	rs767012209	2/9	nonpreferredpair	ENST00000378555	Transcript	.	.	ENSG00000128567	9171	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	deleterious(0.02)	.	PODXL_HUMAN	PODXL	HGNC	.	.	UPI000042467C	SNV	PODXL,missense_variant,p.Lys127Asn,ENST00000537928,;PODXL,missense_variant,p.Lys127Asn,ENST00000322985,;PODXL,missense_variant,p.Lys127Asn,ENST00000378555,;PODXL,missense_variant,p.Lys129Asn,ENST00000541194,;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,missense_variant,p.Lys127Asn,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;	629	172	263	SUCCESS
KIAA1549	57670	.	GRCh37	7	138564336	138564336	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	21	0	ENST00000422774.1:c.4293T>C	p.Asp1431=	p.D1431=	ENST00000422774		1431	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS56513.1	4293	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCTTATCTCC	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	.	.	ENSP00000416040	.	12/20	.	.	.	.	.	.	.	.	.	12/20	nonpreferredpair	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,synonymous_variant,p.%3D,ENST00000422774,;KIAA1549,synonymous_variant,p.%3D,ENST00000242365,;KIAA1549,synonymous_variant,p.%3D,ENST00000440172,;RNU6-1272P,upstream_gene_variant,,ENST00000362776,;	4342	21	23	SUCCESS
SAMD9	54809	.	GRCh37	7	92731170	92731170	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	14	111	0	ENST00000379958.2:c.4241A>G	p.Gln1414Arg	p.Q1414R	ENST00000379958	NM_017654.3	1414	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34680.1	4241	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGATCT	BUFFER|p.R1416*|c.4246C>T|4	.	.	hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	COSM1550888	3/3	nonpreferredpair	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.017)	.	tolerated(0.92)	1	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,missense_variant,p.Gln1414Arg,ENST00000379958,;SAMD9,downstream_gene_variant,,ENST00000446617,;	4511	111	115	SUCCESS
CSMD3	114788	.	GRCh37	8	114389080	114389080	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	47	0	ENST00000297405.5:c.178+59826C>T		p.*60*	ENST00000297405	NM_198123.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	RADIA|MUTECT|VARSCANS	.	CCTCTGCCCCT	NONE	.	.	.	.	.	ENSP00000297405	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	1/70	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,5_prime_UTR_variant,,ENST00000343508,;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000455883,;CSMD3,intron_variant,,ENST00000297405,;CSMD3,intron_variant,,ENST00000497026,;CSMD3,intron_variant,,ENST00000493303,;RP11-709P2.1,non_coding_transcript_exon_variant,,ENST00000422478,;	.	47	44	SUCCESS
SCRIB	23513	.	GRCh37	8	144892681	144892681	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs759838353	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	18	134	0	ENST00000320476.3:c.1498C>G	p.Pro500Ala	p.P500A	ENST00000320476	NM_015356.4	500	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS6412.1	1498	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGCTGGC	NONE	byFrequency	.	.	.	.	ENSP00000349486	.	13/37	.	.	.	.	.	.	.	.	rs759838353	13/37	nonpreferredpair	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.234)	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,missense_variant,p.Pro419Ala,ENST00000377533,;SCRIB,missense_variant,p.Pro500Ala,ENST00000356994,;SCRIB,missense_variant,p.Pro500Ala,ENST00000320476,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;	1505	134	138	SUCCESS
MICU3	286097	.	GRCh37	8	16961997	16961997	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746832652	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	44	0	ENST00000318063.5:c.1082A>G	p.Tyr361Cys	p.Y361C	ENST00000318063	NM_181723.2	361	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5999.1	1082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTATAGGT	NONE	.	.	hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF10,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Superfamily_domains:SSF47473	.	.	ENSP00000321455	.	10/15	.	.	.	.	.	.	.	.	rs746832652	10/15	nonpreferredpair	ENST00000318063	Transcript	.	.	ENSG00000155970	27820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	tolerated(0.08)	.	MICU3_HUMAN	MICU3	HGNC	.	.	UPI000000DAE7	SNV	MICU3,missense_variant,p.Tyr206Cys,ENST00000519044,;MICU3,missense_variant,p.Tyr361Cys,ENST00000318063,;MICU3,non_coding_transcript_exon_variant,,ENST00000519866,;	1124	44	61	SUCCESS
PXDNL	137902	.	GRCh37	8	52339318	52339318	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	29	0	ENST00000356297.4:c.1526C>G	p.Ala509Gly	p.A509G	ENST00000356297	NM_144651.4	509	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS47855.1	1526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGCTGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475	.	.	ENSP00000348645	.	13/23	.	.	.	.	.	.	.	.	.	13/23	nonpreferredpair	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.23)	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,missense_variant,p.Ala509Gly,ENST00000543296,;PXDNL,missense_variant,p.Ala509Gly,ENST00000356297,;	1627	29	48	SUCCESS
EYA1	2138	.	GRCh37	8	72234031	72234031	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	261	33	264	0	ENST00000340726.3:c.356A>G	p.Gln119Arg	p.Q119R	ENST00000340726	NM_000503.4	119	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34906.1	356	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTTGCATT	NONE	.	.	hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	6/18	.	.	.	.	.	.	.	.	COSM145384	6/18	nonpreferredpair	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.992)	.	deleterious(0)	1	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,missense_variant,p.Gln85Arg,ENST00000388741,;EYA1,missense_variant,p.Gln119Arg,ENST00000419131,;EYA1,missense_variant,p.Gln119Arg,ENST00000388742,;EYA1,missense_variant,p.Gln119Arg,ENST00000340726,;EYA1,missense_variant,p.Gln86Arg,ENST00000388740,;EYA1,missense_variant,p.Gln118Arg,ENST00000388743,;EYA1,missense_variant,p.Gln118Arg,ENST00000303824,;EYA1,missense_variant,p.Asn97Asp,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000422295,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	996	264	295	SUCCESS
ESRP1	54845	.	GRCh37	8	95676928	95676928	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	17	108	0	ENST00000433389.2:c.648C>T	p.Ser216=	p.S216=	ENST00000433389	NM_001034915.2	216	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47897.1	648	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCAAGAT	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37	.	.	ENSP00000405738	.	7/16	.	.	.	.	.	.	.	.	.	7/16	nonpreferredpair	ENST00000433389	Transcript	.	.	ENSG00000104413	25966	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESRP1_HUMAN	ESRP1	HGNC	E5RI26_HUMAN,E5RGE9_HUMAN	.	UPI0000210327	SNV	ESRP1,synonymous_variant,p.%3D,ENST00000433389,;ESRP1,synonymous_variant,p.%3D,ENST00000519505,;ESRP1,synonymous_variant,p.%3D,ENST00000517610,;ESRP1,synonymous_variant,p.%3D,ENST00000454170,;ESRP1,synonymous_variant,p.%3D,ENST00000423620,;ESRP1,synonymous_variant,p.%3D,ENST00000358397,;ESRP1,5_prime_UTR_variant,,ENST00000522756,;ESRP1,downstream_gene_variant,,ENST00000520385,;ESRP1,upstream_gene_variant,,ENST00000517556,;	838	108	166	SUCCESS
GAPVD1	26130	.	GRCh37	9	128118132	128118132	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	30	195	0	ENST00000394104.2:c.4021G>A	p.Asp1341Asn	p.D1341N	ENST00000394104	NM_001282679.1	1341	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS35138.1	4048	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGCGACCAG	NONE	.	.	PROSITE_profiles:PS51205,hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Superfamily_domains:0044157	.	.	ENSP00000377665	.	24/27	.	.	.	.	.	.	.	.	.	24/27	nonpreferredpair	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,missense_variant,p.Asp1323Asn,ENST00000297933,;GAPVD1,missense_variant,p.Asp1296Asn,ENST00000470056,;GAPVD1,missense_variant,p.Asp1341Asn,ENST00000394104,;GAPVD1,missense_variant,p.Asp1350Asn,ENST00000394105,;GAPVD1,missense_variant,p.Asp1315Asn,ENST00000265956,;GAPVD1,missense_variant,p.Asp1275Asn,ENST00000394083,;GAPVD1,missense_variant,p.Asp1341Asn,ENST00000495955,;GAPVD1,missense_variant,p.Asp1302Asn,ENST00000312123,;GAPVD1,non_coding_transcript_exon_variant,,ENST00000467707,;GAPVD1,non_coding_transcript_exon_variant,,ENST00000474637,;	4208	195	200	SUCCESS
SH3GL2	6456	.	GRCh37	9	17789515	17789515	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	48	0	ENST00000380607.4:c.591T>A	p.Ala197=	p.A197=	ENST00000380607	NM_003026.2	197	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6483.1	591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCTGAGTC	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000369981	.	6/9	.	.	.	.	.	.	.	.	.	6/9	nonpreferredpair	ENST00000380607	Transcript	.	.	ENSG00000107295	10831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3G2_HUMAN	SH3GL2	HGNC	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN	.	UPI0000135933	SNV	SH3GL2,synonymous_variant,p.%3D,ENST00000380607,;SH3GL2,synonymous_variant,p.%3D,ENST00000537391,;	711	48	80	SUCCESS
TJP2	9414	.	GRCh37	9	71836182	71836182	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs943205124	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	75	0	ENST00000377245.4:c.722G>A	p.Arg241His	p.R241H	ENST00000377245	NM_004817.3	241	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS55316.1	815	MUTECT|MUSE	.	CAGCCGCGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13865:SF26,hmmpanther:PTHR13865	.	.	ENSP00000438262	.	5/23	.	.	.	.	.	.	.	.	.	5/23	nonpreferredpair	ENST00000539225	Transcript	.	.	ENSG00000119139	11828	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.05)	.	ZO2_HUMAN	TJP2	HGNC	U3KQJ2_HUMAN,B1AN86_HUMAN	.	UPI0001C0B37F	SNV	TJP2,missense_variant,p.Arg245His,ENST00000535702,;TJP2,missense_variant,p.Arg241His,ENST00000348208,;TJP2,missense_variant,p.Arg218His,ENST00000453658,;TJP2,missense_variant,p.Arg241His,ENST00000377245,;TJP2,missense_variant,p.Arg241His,ENST00000265384,;TJP2,missense_variant,p.Arg272His,ENST00000539225,;TJP2,downstream_gene_variant,,ENST00000423935,;TJP2,downstream_gene_variant,,ENST00000377259,;TJP2,downstream_gene_variant,,ENST00000606364,;	815	75	59	SUCCESS
TRPM6	140803	.	GRCh37	9	77386720	77386720	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	32	0	ENST00000360774.1:c.3435A>G	p.Lys1145=	p.K1145=	ENST00000360774	NM_017662.4	1145	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS6647.1	3435	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGTTTTTT	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	25/39	.	.	.	.	.	.	.	.	.	25/39	nonpreferredpair	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,synonymous_variant,p.%3D,ENST00000451710,;TRPM6,synonymous_variant,p.%3D,ENST00000449912,;TRPM6,synonymous_variant,p.%3D,ENST00000361255,;TRPM6,synonymous_variant,p.%3D,ENST00000376864,;TRPM6,synonymous_variant,p.%3D,ENST00000360774,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;	3673	32	54	SUCCESS
NOL8	55035	.	GRCh37	9	95077366	95077366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	70	0	ENST00000442668.2:c.1541C>T	p.Thr514Ile	p.T514I	ENST00000442668	NM_017948.5	514	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS47993.1	1541	MUTECT|MUSE	.	GGGTGGTGGTT	NONE	.	.	hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8	.	.	ENSP00000441140	.	7/17	.	.	.	.	.	.	.	.	.	7/17	nonpreferredpair	ENST00000545558	Transcript	.	.	ENSG00000198000	23387	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	deleterious(0.05)	.	NOL8_HUMAN	NOL8	HGNC	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN	.	UPI0000211A3D	SNV	NOL8,missense_variant,p.Thr514Ile,ENST00000545558,;NOL8,missense_variant,p.Thr446Ile,ENST00000358855,;NOL8,missense_variant,p.Thr514Ile,ENST00000442668,;NOL8,missense_variant,p.Thr514Ile,ENST00000535387,;NOL8,missense_variant,p.Thr446Ile,ENST00000542053,;NOL8,missense_variant,p.Thr514Ile,ENST00000432670,;NOL8,downstream_gene_variant,,ENST00000542613,;NOL8,downstream_gene_variant,,ENST00000433029,;NOL8,downstream_gene_variant,,ENST00000411621,;NOL8,downstream_gene_variant,,ENST00000536624,;NOL8,downstream_gene_variant,,ENST00000421075,;NOL8,downstream_gene_variant,,ENST00000535807,;NOL8,downstream_gene_variant,,ENST00000543985,;NOL8,missense_variant,p.Thr514Ile,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000434228,;NOL8,intron_variant,,ENST00000545444,;NOL8,downstream_gene_variant,,ENST00000542573,;NOL8,upstream_gene_variant,,ENST00000538802,;NOL8,downstream_gene_variant,,ENST00000543260,;NOL8,downstream_gene_variant,,ENST00000445919,;NOL8,downstream_gene_variant,,ENST00000467230,;	2034	70	75	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	104999216	104999216	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	35	136	0	ENST00000372582.1:c.1238A>G	p.Gln413Arg	p.Q413R	ENST00000372582	NM_017416.1	413	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS14517.1	1238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAAGATA	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000361663	.	10/11	.	.	.	.	.	.	.	.	COSM4105555	10/11	nonpreferredpair	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.334)	.	tolerated(0.25)	1	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,missense_variant,p.Gln413Arg,ENST00000344799,;IL1RAPL2,missense_variant,p.Gln413Arg,ENST00000372582,;IL1RAPL2,non_coding_transcript_exon_variant,,ENST00000485671,;	1994	136	151	SUCCESS
FAM45B	0	.	GRCh37	X	129629187	129629187	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1296376409	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	50	120	0	ENST00000592932.1:n.249G>A		p.*83*	ENST00000592932				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCGAAAAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	COSM3557825	.	nonpreferredpair	ENST00000458525	Transcript	.	.	ENSG00000229702	.	.	.	LOW	6/11	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	RP1-274L7.1	Clone_based_vega_gene	.	.	.	SNV	RP1-274L7.1,splice_region_variant,,ENST00000458525,;FAM45B,non_coding_transcript_exon_variant,,ENST00000592932,;FAM45B,non_coding_transcript_exon_variant,,ENST00000408950,;FAM45B,upstream_gene_variant,,ENST00000539800,;	.	120	167	SUCCESS
GPR112	0	.	GRCh37	X	135431901	135431901	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	69	0	ENST00000370652.1:c.6036T>A	p.Ser2012=	p.S2012=	ENST00000370652		2012	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35409.1	6036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTAGTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	nonpreferredpair	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,synonymous_variant,p.%3D,ENST00000287534,;GPR112,synonymous_variant,p.%3D,ENST00000370652,;GPR112,synonymous_variant,p.%3D,ENST00000394143,;GPR112,synonymous_variant,p.%3D,ENST00000394141,;GPR112,synonymous_variant,p.%3D,ENST00000412101,;	6327	69	76	SUCCESS
IL1RAPL1	11141	.	GRCh37	X	29973747	29973747	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	80	0	ENST00000378993.1:c.1901C>T	p.Pro634Leu	p.P634L	ENST00000378993	NM_014271.3	634	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS14218.1	1901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCTACCG	NONE	.	.	.	.	.	ENSP00000368278	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000378993	Transcript	.	.	ENSG00000169306	5996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated_low_confidence(0.08)	.	IRPL1_HUMAN	IL1RAPL1	HGNC	Q7Z2H0_HUMAN	.	UPI000006D1BF	SNV	IL1RAPL1,missense_variant,p.Pro634Leu,ENST00000378993,;IL1RAPL1,missense_variant,p.Pro634Leu,ENST00000302196,;	2574	80	113	SUCCESS
AMER1	139285	.	GRCh37	X	63412208	63412208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	31	0	ENST00000330258.3:c.959A>T	p.Lys320Ile	p.K320I	ENST00000330258	NM_152424.3	320	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS14377.2	959	MUTECT|MUSE|VARSCANS	.	AGCTTTTCAGG	NONE	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0,Pfam_domain:PF09422	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Lys320Ile,ENST00000374869,;AMER1,missense_variant,p.Lys320Ile,ENST00000403336,;AMER1,missense_variant,p.Lys320Ile,ENST00000330258,;	1232	31	50	SUCCESS
GPAM	57678	.	GRCh37	10	113915495	113915495	+	intron_variant	Intron	SNP	T	T	C	rs141531540	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	19	0	ENST00000348367.4:c.2311+127A>G		p.*771*	ENST00000348367				0	.	C:0.0265	.	C:0	.	C	.	protein_coding	YES	CCDS7570.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAATAGTAA	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000265276	C:0	.	.	.	.	.	.	.	.	.	rs141531540	.	PASS	ENST00000348367	Transcript	.	C:0.0070	ENSG00000119927	24865	.	.	MODIFIER	20/21	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	SNV	GPAM,3_prime_UTR_variant,,ENST00000369425,;GPAM,intron_variant,,ENST00000348367,;GPAM,intron_variant,,ENST00000423155,;	.	19	16	SUCCESS
KIAA1217	56243	.	GRCh37	10	24508649	24508649	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	73	0	ENST00000376454.3:c.165A>G	p.Ser55=	p.S55=	ENST00000376454	NM_019590.3	55	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS31165.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGTTTC	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,synonymous_variant,p.%3D,ENST00000376454,;KIAA1217,synonymous_variant,p.%3D,ENST00000376456,;KIAA1217,synonymous_variant,p.%3D,ENST00000376452,;KIAA1217,synonymous_variant,p.%3D,ENST00000458595,;KIAA1217,5_prime_UTR_variant,,ENST00000376462,;	195	73	63	SUCCESS
PRKCQ	5588	.	GRCh37	10	6498670	6498670	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	45	0	ENST00000263125.5:c.1613C>A	p.Thr538Asn	p.T538N	ENST00000263125	NM_006257.3	538	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS7079.1	1613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGTATTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000551,SMART_domains:SM00220,PIRSF_domain:PIRSF501105,Superfamily_domains:SSF56112	.	.	ENSP00000263125	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,missense_variant,p.Thr538Asn,ENST00000397176,;PRKCQ,missense_variant,p.Thr538Asn,ENST00000263125,;PRKCQ,missense_variant,p.Thr413Asn,ENST00000539722,;	1713	45	68	SUCCESS
MAT1A	4143	.	GRCh37	10	82036284	82036284	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	18	0	ENST00000372213.3:c.616T>G	p.Ser206Ala	p.S206A	ENST00000372213	NM_000429.2	206	Tct/Gct	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS7365.1	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGAGATGA	NONE	.	.	HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Pfam_domain:PF02772,Gene3D:3.30.300.10,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	.	.	ENSP00000361287	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000372213	Transcript	1	.	ENSG00000151224	6903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious(0)	.	METK1_HUMAN	MAT1A	HGNC	.	.	UPI000012EFF3	SNV	MAT1A,missense_variant,p.Ser143Ala,ENST00000455001,;MAT1A,missense_variant,p.Ser206Ala,ENST00000372213,;MAT1A,upstream_gene_variant,,ENST00000480845,;MAT1A,upstream_gene_variant,,ENST00000485270,;	877	18	15	SUCCESS
EIF4G2	1982	.	GRCh37	11	10824602	10824602	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756848879	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	54	0	ENST00000526148.1:c.971A>G	p.Asn324Ser	p.N324S	ENST00000526148	NM_001172705.1	324	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS31428.1	971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGATTGATC	NONE	byFrequency	.	hmmpanther:PTHR23253,Gene3D:1.25.40.180	.	.	ENSP00000433664	.	11/22	.	.	.	.	.	.	.	.	rs756848879	11/22	PASS	ENST00000526148	Transcript	.	.	ENSG00000110321	3297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.14)	.	.	EIF4G2	HGNC	Q59G42_HUMAN,Q2TU89_HUMAN,H0YEN8_HUMAN,H0YEC5_HUMAN,H0YDC0_HUMAN,H0YD99_HUMAN,H0YD77_HUMAN,H0YCF8_HUMAN,D3DQV9_HUMAN,B4DZF2_HUMAN	.	UPI000013C8BE	SNV	EIF4G2,missense_variant,p.Asn324Ser,ENST00000531416,;EIF4G2,missense_variant,p.Asn324Ser,ENST00000525681,;EIF4G2,missense_variant,p.Asn324Ser,ENST00000396525,;EIF4G2,missense_variant,p.Asn324Ser,ENST00000339995,;EIF4G2,missense_variant,p.Asn324Ser,ENST00000526148,;EIF4G2,downstream_gene_variant,,ENST00000527526,;EIF4G2,upstream_gene_variant,,ENST00000531180,;EIF4G2,downstream_gene_variant,,ENST00000530702,;EIF4G2,downstream_gene_variant,,ENST00000532082,;EIF4G2,upstream_gene_variant,,ENST00000528839,;EIF4G2,downstream_gene_variant,,ENST00000527419,;EIF4G2,downstream_gene_variant,,ENST00000524932,;EIF4G2,downstream_gene_variant,,ENST00000532570,;EIF4G2,downstream_gene_variant,,ENST00000530211,;SNORD97,upstream_gene_variant,,ENST00000459187,;RP11-685M7.5,downstream_gene_variant,,ENST00000532365,;EIF4G2,downstream_gene_variant,,ENST00000531507,;EIF4G2,upstream_gene_variant,,ENST00000534272,;EIF4G2,downstream_gene_variant,,ENST00000525995,;EIF4G2,upstream_gene_variant,,ENST00000532120,;EIF4G2,downstream_gene_variant,,ENST00000525972,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000532383,;EIF4G2,intron_variant,,ENST00000531647,;EIF4G2,downstream_gene_variant,,ENST00000534246,;EIF4G2,downstream_gene_variant,,ENST00000533485,;EIF4G2,upstream_gene_variant,,ENST00000534470,;EIF4G2,upstream_gene_variant,,ENST00000525606,;EIF4G2,downstream_gene_variant,,ENST00000528562,;EIF4G2,downstream_gene_variant,,ENST00000527015,;EIF4G2,downstream_gene_variant,,ENST00000532349,;EIF4G2,downstream_gene_variant,,ENST00000534605,;EIF4G2,upstream_gene_variant,,ENST00000530564,;EIF4G2,downstream_gene_variant,,ENST00000532152,;	1482	54	48	SUCCESS
PSMA1	5682	.	GRCh37	11	14535383	14535383	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	75	0	ENST00000396394.2:c.394C>G	p.Leu132Val	p.L132V	ENST00000396394	NM_002786.3	132	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS31431.1	412	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGACCAA	NONE	.	.	PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF12,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235	.	.	ENSP00000414359	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000418988	Transcript	.	.	ENSG00000129084	9530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.602)	.	deleterious(0.01)	.	PSA1_HUMAN	PSMA1	HGNC	F5GX11_HUMAN	.	UPI000002B1AC	SNV	PSMA1,missense_variant,p.Leu138Val,ENST00000418988,;PSMA1,missense_variant,p.Leu132Val,ENST00000396394,;PSMA1,missense_variant,p.Leu132Val,ENST00000396393,;PSMA1,missense_variant,p.Leu107Val,ENST00000530457,;PSMA1,intron_variant,,ENST00000419365,;PSMA1,downstream_gene_variant,,ENST00000532256,;PSMA1,downstream_gene_variant,,ENST00000533068,;PSMA1,upstream_gene_variant,,ENST00000524606,;PSMA1,non_coding_transcript_exon_variant,,ENST00000528307,;PSMA1,non_coding_transcript_exon_variant,,ENST00000527632,;PSMA1,non_coding_transcript_exon_variant,,ENST00000531023,;PSMA1,non_coding_transcript_exon_variant,,ENST00000529524,;PSMA1,intron_variant,,ENST00000555531,;PSMA1,intron_variant,,ENST00000533331,;PSMA1,downstream_gene_variant,,ENST00000526443,;PSMA1,downstream_gene_variant,,ENST00000531156,;	740	75	57	SUCCESS
LDHAL6A	160287	.	GRCh37	11	18499168	18499168	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs775924732	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	100	0	ENST00000280706.2:c.712G>T	p.Gly238Cys	p.G238C	ENST00000280706	NM_144972.4	238	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7841.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGGCTAT	NONE	.	.	HAMAP:MF_00488,hmmpanther:PTHR11540,hmmpanther:PTHR11540:SF13,Pfam_domain:PF02866,Gene3D:3.90.110.10,TIGRFAM_domain:TIGR01771,PIRSF_domain:PIRSF000102,Superfamily_domains:SSF56327	.	.	ENSP00000280706	.	6/7	.	.	.	.	.	.	.	.	rs775924732	6/7	PASS	ENST00000280706	Transcript	.	.	ENSG00000166800	28335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	LDH6A_HUMAN	LDHAL6A	HGNC	.	.	UPI00001B24AC	SNV	LDHAL6A,missense_variant,p.Gly238Cys,ENST00000396213,;LDHAL6A,missense_variant,p.Gly238Cys,ENST00000280706,;TSG101,intron_variant,,ENST00000536719,;TSG101,downstream_gene_variant,,ENST00000357193,;TSG101,downstream_gene_variant,,ENST00000251968,;TSG101,intron_variant,,ENST00000584526,;TSG101,intron_variant,,ENST00000580814,;TSG101,downstream_gene_variant,,ENST00000540555,;	1509	100	71	SUCCESS
NELL1	4745	.	GRCh37	11	21592455	21592455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	75	0	ENST00000357134.5:c.2126G>T	p.Trp709Leu	p.W709L	ENST00000357134	NM_201551.1	709	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS7855.1	2126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTGGACCC	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,Pfam_domain:PF00093,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603	.	.	ENSP00000349654	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000357134	Transcript	.	.	ENSG00000165973	7750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NELL1_HUMAN	NELL1	HGNC	K9UUD5_HUMAN	.	UPI000013E53D	SNV	NELL1,missense_variant,p.Trp652Leu,ENST00000325319,;NELL1,missense_variant,p.Trp709Leu,ENST00000357134,;NELL1,missense_variant,p.Trp737Leu,ENST00000298925,;NELL1,missense_variant,p.Trp662Leu,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;	2278	75	64	SUCCESS
RAG1	5896	.	GRCh37	11	36596559	36596559	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138101978	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	76	0	ENST00000299440.5:c.1705G>T	p.Ala569Ser	p.A569S	ENST00000299440	NM_000448.2	569	Gct/Tct	0	T:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS7902.1	1705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGCTTTG	NONE	.	.	Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	T:0.0002	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	rs138101978	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0.01)	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,missense_variant,p.Ala569Ser,ENST00000299440,;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Ala569Ser,ENST00000534663,;	1817	77	59	SUCCESS
OR51I1	390063	.	GRCh37	11	5462429	5462429	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	73	0	ENST00000380211.1:c.316A>G	p.Ile106Val	p.I106V	ENST00000380211	NM_001005288.2	106	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31382.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATGAAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF66,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000369559	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380211	Transcript	.	.	ENSG00000167359	15200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	deleterious(0.01)	.	O51I1_HUMAN	OR51I1	HGNC	.	.	UPI0000041CD0	SNV	OR51I1,missense_variant,p.Ile106Val,ENST00000380211,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	316	73	67	SUCCESS
IL18BP	10068	.	GRCh37	11	71711533	71711533	+	synonymous_variant	Silent	SNP	C	C	T	rs369922984	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	23	0	ENST00000260049.5:c.165C>T	p.Pro55=	p.P55=	ENST00000260049	NM_001145057.1	55	ccC/ccT	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS8206.2	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCCAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14292	.	T:0.0001	ENSP00000384212	.	2/5	.	.	.	.	.	.	.	.	rs369922984	2/5	PASS	ENST00000404792	Transcript	.	.	ENSG00000137496	5987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I18BP_HUMAN	IL18BP	HGNC	Q9UNH2_HUMAN	.	UPI000000DA78	SNV	IL18BP,synonymous_variant,p.%3D,ENST00000393705,;IL18BP,synonymous_variant,p.%3D,ENST00000393707,;IL18BP,synonymous_variant,p.%3D,ENST00000497194,;IL18BP,synonymous_variant,p.%3D,ENST00000404792,;IL18BP,synonymous_variant,p.%3D,ENST00000260049,;IL18BP,synonymous_variant,p.%3D,ENST00000531053,;IL18BP,synonymous_variant,p.%3D,ENST00000393703,;IL18BP,synonymous_variant,p.%3D,ENST00000337131,;RNF121,downstream_gene_variant,,ENST00000361756,;NUMA1,downstream_gene_variant,,ENST00000393695,;RNF121,downstream_gene_variant,,ENST00000530137,;NUMA1,downstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000351960,;RNF121,downstream_gene_variant,,ENST00000533380,;NUMA1,downstream_gene_variant,,ENST00000358965,;RNF121,downstream_gene_variant,,ENST00000545854,;RNF121,downstream_gene_variant,,ENST00000393713,;IL18BP,downstream_gene_variant,,ENST00000531777,;NUMA1,downstream_gene_variant,,ENST00000541262,;IL18BP,downstream_gene_variant,,ENST00000414358,;IL18BP,downstream_gene_variant,,ENST00000525932,;IL18BP,synonymous_variant,p.%3D,ENST00000534583,;IL18BP,synonymous_variant,p.%3D,ENST00000343898,;RNF121,downstream_gene_variant,,ENST00000525243,;NUMA1,downstream_gene_variant,,ENST00000545721,;RNF121,downstream_gene_variant,,ENST00000526549,;RNF121,downstream_gene_variant,,ENST00000530655,;NUMA1,downstream_gene_variant,,ENST00000540626,;RNF121,downstream_gene_variant,,ENST00000532379,;	1087	23	19	SUCCESS
C2CD3	26005	.	GRCh37	11	73824849	73824849	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775190326	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	43	0	ENST00000334126.7:c.1819G>T	p.Ala607Ser	p.A607S	ENST00000334126	NM_001286577.1	607	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31636.1	1819	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCGAGTC	NONE	byFrequency	.	hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,SMART_domains:SM00239	.	.	ENSP00000323339	.	11/31	.	.	.	.	.	.	.	.	rs775190326	11/31	PASS	ENST00000313663	Transcript	.	.	ENSG00000168014	24564	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	C2CD3_HUMAN	C2CD3	HGNC	.	.	UPI0000D62650	SNV	C2CD3,missense_variant,p.Ala607Ser,ENST00000313663,;C2CD3,missense_variant,p.Ala607Ser,ENST00000334126,;C2CD3,upstream_gene_variant,,ENST00000537285,;C2CD3,non_coding_transcript_exon_variant,,ENST00000415191,;C2CD3,upstream_gene_variant,,ENST00000366334,;	2046	43	45	SUCCESS
PDE3A	5139	.	GRCh37	12	20766493	20766493	+	synonymous_variant	Silent	SNP	C	C	A	rs778905645	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	70	0	ENST00000359062.3:c.1128C>A	p.Ala376=	p.A376=	ENST00000359062	NM_001244683.1	376	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS31754.1	1128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCGTGAG	NONE	byFrequency	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347	.	.	ENSP00000351957	.	3/16	.	.	.	.	.	.	.	.	rs778905645,COSM430861	3/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,synonymous_variant,p.%3D,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	1168	70	66	SUCCESS
KRT81	3887	.	GRCh37	12	52681386	52681386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	50	0	ENST00000327741.5:c.1020G>T	p.Lys340Asn	p.K340N	ENST00000327741	NM_002281.3	340	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS31805.1	1020	RADIA|MUTECT|MUSE	.	TGGCACTTGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF143,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	.	.	ENSP00000369349	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000327741	Transcript	.	.	ENSG00000205426	6458	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.939)	.	deleterious(0.01)	.	KRT81_HUMAN	KRT81	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000DBEEF8	SNV	KRT81,missense_variant,p.Lys340Asn,ENST00000327741,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;	1089	50	43	SUCCESS
KRT78	196374	.	GRCh37	12	53242690	53242690	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs778405023	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	21	0	ENST00000304620.4:c.25C>T	p.Gln9Ter	p.Q9*	ENST00000304620	NM_173352.2	9	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS8840.1	25	MUTECT|MUSE	.	CCTCTGGGCCC	NONE	byFrequency	.	.	.	.	ENSP00000306261	.	1/9	.	.	.	.	.	.	.	.	rs778405023	1/9	PASS	ENST00000304620	Transcript	.	.	ENSG00000170423	28926	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K2C78_HUMAN	KRT78	HGNC	F8VS93_HUMAN,B4DQ49_HUMAN	.	UPI00001AEDBE	SNV	KRT78,stop_gained,p.Gln9Ter,ENST00000304620,;KRT78,intron_variant,,ENST00000547110,;KRT78,upstream_gene_variant,,ENST00000359499,;KRT78,upstream_gene_variant,,ENST00000551581,;	89	21	15	SUCCESS
SP1	6667	.	GRCh37	12	53777293	53777293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	47	0	ENST00000327443.4:c.1562C>A	p.Ala521Asp	p.A521D	ENST00000327443	NM_138473.2	521	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS8857.1	1562	MUTECT|MUSE	.	TGCTGCTCAAC	NONE	.	.	hmmpanther:PTHR23235:SF4,hmmpanther:PTHR23235	.	.	ENSP00000329357	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000327443	Transcript	.	.	ENSG00000185591	11205	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	SP1_HUMAN	SP1	HGNC	G5E9M8_HUMAN,Q9NR52_HUMAN,H3BVI2_HUMAN,C4PGM0_HUMAN	.	UPI0000135D4E	SNV	SP1,missense_variant,p.Ala514Asp,ENST00000426431,;SP1,missense_variant,p.Ala521Asp,ENST00000327443,;SP1,downstream_gene_variant,,ENST00000548560,;SP1,downstream_gene_variant,,ENST00000551969,;	1660	47	38	SUCCESS
NCKAP1L	3071	.	GRCh37	12	54910687	54910687	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	86	0	ENST00000293373.6:c.1006T>C	p.Phe336Leu	p.F336L	ENST00000293373	NM_005337.4	336	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS31813.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTTTCAT	NONE	.	.	hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735	.	.	ENSP00000293373	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000293373	Transcript	.	.	ENSG00000123338	4862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.77)	.	NCKPL_HUMAN	NCKAP1L	HGNC	Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN	.	UPI00001C0439	SNV	NCKAP1L,missense_variant,p.Phe336Leu,ENST00000293373,;NCKAP1L,missense_variant,p.Phe286Leu,ENST00000545638,;NCKAP1L,non_coding_transcript_exon_variant,,ENST00000552211,;NCKAP1L,missense_variant,p.Phe336Leu,ENST00000548221,;NCKAP1L,upstream_gene_variant,,ENST00000549451,;NCKAP1L,downstream_gene_variant,,ENST00000548916,;	1085	86	71	SUCCESS
EEA1	8411	.	GRCh37	12	93181640	93181640	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	60	0	ENST00000322349.8:c.3150+3A>G		p.X1050_splice	ENST00000322349	NM_003566.3	1050		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31874.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTATACCTT	NONE	.	.	.	.	.	ENSP00000317955	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	LOW	22/28	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,splice_region_variant,,ENST00000322349,;	.	60	59	SUCCESS
KRT19P2	160313	.	GRCh37	12	95228772	95228772	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	19	0	ENST00000405395.2:n.543G>T		p.*181*	ENST00000405395				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|MUSE	.	GCACTGATCAG	NONE	.	483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000385303	Transcript	.	.	ENSG00000208038	32081	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MIR492	HGNC	.	.	.	SNV	MIR492,downstream_gene_variant,,ENST00000385303,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000405395,;KRT19P2,non_coding_transcript_exon_variant,,ENST00000557173,;	.	19	8	SUCCESS
POSTN	10631	.	GRCh37	13	38162065	38162065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	96	332	0	ENST00000379747.4:c.500G>A	p.Ser167Asn	p.S167N	ENST00000379747	NM_006475.2	167	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS9364.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACTATGT	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.17)	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	SNV	POSTN,missense_variant,p.Ser167Asn,ENST00000379747,;POSTN,missense_variant,p.Ser167Asn,ENST00000379749,;POSTN,missense_variant,p.Ser167Asn,ENST00000541481,;POSTN,missense_variant,p.Ser167Asn,ENST00000379743,;POSTN,missense_variant,p.Ser167Asn,ENST00000541179,;POSTN,missense_variant,p.Ser167Asn,ENST00000379742,;	618	332	301	SUCCESS
RAB15	376267	.	GRCh37	14	65415173	65415173	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	36	0	ENST00000533601.2:c.538C>T	p.Leu180Phe	p.L180F	ENST00000533601		180	Ctc/Ttc	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9768.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGAGGCCTT	NONE	.	.	.	.	.	ENSP00000267512	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000267512	Transcript	.	.	ENSG00000139998	20150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB15_HUMAN	RAB15	HGNC	Q6MZX6_HUMAN,G5EMR7_HUMAN	.	UPI00001C1D4D	SNV	RAB15,missense_variant,p.Leu180Phe,ENST00000533601,;RAB15,missense_variant,p.Leu134Phe,ENST00000426039,;RAB15,missense_variant,p.Leu134Phe,ENST00000554593,;RAB15,3_prime_UTR_variant,,ENST00000436278,;RAB15,3_prime_UTR_variant,,ENST00000267512,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1-FNTB,intron_variant,,ENST00000553743,;FNTB,intron_variant,,ENST00000542227,;CHURC1,downstream_gene_variant,,ENST00000551947,;CHURC1,downstream_gene_variant,,ENST00000551093,;RAB15,3_prime_UTR_variant,,ENST00000585059,;CHURC1-FNTB,intron_variant,,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;RAB15,downstream_gene_variant,,ENST00000555256,;	750	36	24	SUCCESS
COQ6	51004	.	GRCh37	14	74428466	74428466	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1594816203	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	50	0	ENST00000334571.2:c.1237G>T	p.Glu413Ter	p.E413*	ENST00000334571	NM_182476.2	413	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9823.1	1237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATGAAACA	NONE	.	.	hmmpanther:PTHR13789:SF5,hmmpanther:PTHR13789,TIGRFAM_domain:TIGR01988,Gene3D:3.50.50.60,Pfam_domain:PF01494,TIGRFAM_domain:TIGR01989,Superfamily_domains:SSF51905	.	.	ENSP00000333946	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000334571	Transcript	.	.	ENSG00000119723	20233	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COQ6_HUMAN	COQ6	HGNC	G3V2W8_HUMAN	.	UPI0000127F00	SNV	COQ6,stop_gained,p.Glu338Ter,ENST00000238709,;COQ6,stop_gained,p.Glu413Ter,ENST00000334571,;COQ6,stop_gained,p.Glu388Ter,ENST00000394026,;ENTPD5,intron_variant,,ENST00000555829,;COQ6,intron_variant,,ENST00000554920,;ENTPD5,intron_variant,,ENST00000557325,;ENTPD5,downstream_gene_variant,,ENST00000334696,;COQ6,downstream_gene_variant,,ENST00000554320,;COQ6,intron_variant,,ENST00000557780,;COQ6,3_prime_UTR_variant,,ENST00000554341,;COQ6,non_coding_transcript_exon_variant,,ENST00000556299,;COQ6,non_coding_transcript_exon_variant,,ENST00000556588,;COQ6,downstream_gene_variant,,ENST00000554153,;COQ6,downstream_gene_variant,,ENST00000557584,;COQ6,downstream_gene_variant,,ENST00000555392,;COQ6,downstream_gene_variant,,ENST00000553448,;COQ6,downstream_gene_variant,,ENST00000555511,;COQ6,downstream_gene_variant,,ENST00000556300,;COQ6,downstream_gene_variant,,ENST00000553462,;COQ6,downstream_gene_variant,,ENST00000557205,;	1277	50	38	SUCCESS
HERC2	8924	.	GRCh37	15	28419597	28419597	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	57	178	0	ENST00000261609.7:c.10001T>G	p.Val3334Gly	p.V3334G	ENST00000261609	NM_004667.5	3334	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS10021.1	10001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGACAGAG	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	65/93	.	.	.	.	.	.	.	.	.	65/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Val3334Gly,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	10110	178	171	SUCCESS
ARHGAP11B	89839	.	GRCh37	15	30926529	30926529	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	278	102	416	0	ENST00000428041.2:c.454A>G	p.Lys152Glu	p.K152E	ENST00000428041	NM_001039841.1	152	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS32185.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAAAGAAT	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670,PROSITE_profiles:PS50238	.	.	ENSP00000392760	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000428041	Transcript	.	.	ENSG00000187951	15782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	tolerated(0.06)	.	RHGBB_HUMAN	ARHGAP11B	HGNC	.	.	UPI000041D252	SNV	ARHGAP11B,missense_variant,p.Lys152Glu,ENST00000428041,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000566362,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000564902,;ARHGAP11B,missense_variant,p.Lys152Glu,ENST00000563110,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000568574,;	599	416	380	SUCCESS
CTDSPL2	51496	.	GRCh37	15	44816346	44816346	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	43	0	ENST00000260327.4:c.1375T>C	p.Leu459=	p.L459=	ENST00000260327	NM_016396.2	459	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10110.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGCTTGCAT	NONE	.	.	hmmpanther:PTHR12210	.	.	ENSP00000260327	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000260327	Transcript	.	.	ENSG00000137770	26936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTSL2_HUMAN	CTDSPL2	HGNC	H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN	.	UPI000004A0B3	SNV	CTDSPL2,synonymous_variant,p.%3D,ENST00000558373,;CTDSPL2,synonymous_variant,p.%3D,ENST00000558966,;CTDSPL2,synonymous_variant,p.%3D,ENST00000260327,;CTDSPL2,synonymous_variant,p.%3D,ENST00000396780,;EIF3J-AS1,downstream_gene_variant,,ENST00000560750,;CTDSPL2,non_coding_transcript_exon_variant,,ENST00000559738,;CTDSPL2,non_coding_transcript_exon_variant,,ENST00000559175,;CTDSPL2,downstream_gene_variant,,ENST00000560620,;	1938	43	46	SUCCESS
VPS13C	54832	.	GRCh37	15	62226473	62226473	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	9	257	0	ENST00000261517.5:c.5813T>G	p.Phe1938Cys	p.F1938C	ENST00000261517	NM_020821.2	1938	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS32257.1	5813	MUTECT|MUSE	.	AGTCAAATTGG	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	49/85	.	.	.	.	.	.	.	.	.	49/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Phe1938Cys,ENST00000261517,;VPS13C,missense_variant,p.Phe1938Cys,ENST00000395896,;VPS13C,missense_variant,p.Phe1895Cys,ENST00000249837,;VPS13C,missense_variant,p.Phe1895Cys,ENST00000395898,;	5887	257	210	SUCCESS
TLN2	83660	.	GRCh37	15	63031555	63031555	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	34	0	ENST00000306829.6:c.3696A>G	p.Pro1232=	p.P1232=	ENST00000306829	NM_015059.2	1232	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32261.1	3696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAAGCAC	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1r0dB00,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	30/58	.	.	.	.	.	.	.	.	.	30/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,synonymous_variant,p.%3D,ENST00000494733,;TLN2,synonymous_variant,p.%3D,ENST00000561311,;TLN2,synonymous_variant,p.%3D,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000559908,;TLN2,upstream_gene_variant,,ENST00000489129,;	3926	34	36	SUCCESS
AEN	64782	.	GRCh37	15	89169543	89169543	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs199532354	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	15	0	ENST00000332810.3:c.103C>T	p.Arg35Ter	p.R35*	ENST00000332810	NM_022767.3	35	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS10344.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGACAG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF57	.	.	ENSP00000331944	.	2/4	.	.	.	.	.	.	.	.	rs199532354	2/4	PASS	ENST00000332810	Transcript	.	.	ENSG00000181026	25722	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AEN_HUMAN	AEN	HGNC	Q8WYW8_HUMAN,H0YMJ6_HUMAN	.	UPI000013DF23	SNV	AEN,stop_gained,p.Arg35Ter,ENST00000559528,;AEN,stop_gained,p.Arg35Ter,ENST00000332810,;AEN,stop_gained,p.Arg35Ter,ENST00000379231,;AEN,non_coding_transcript_exon_variant,,ENST00000558327,;AEN,non_coding_transcript_exon_variant,,ENST00000557787,;AEN,upstream_gene_variant,,ENST00000557927,;AEN,downstream_gene_variant,,ENST00000560174,;	254	15	22	SUCCESS
SNX29	92017	.	GRCh37	16	12136797	12136797	+	synonymous_variant	Silent	SNP	C	C	T	rs148440564	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	49	0	ENST00000566228.1:c.291C>T	p.His97=	p.H97=	ENST00000566228	NM_032167.3	97	caC/caT	0	T:0.0002	T:0	.	T:0.0014	.	T	H	protein_coding	YES	CCDS10553.2	291	MUTECT|MUSE	.	AAGCACGAGCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50826,hmmpanther:PTHR22835:SF55,hmmpanther:PTHR22835,Pfam_domain:PF02759,Superfamily_domains:0052343	T:0	T:0.0013	ENSP00000456480	T:0.001	5/21	.	.	.	.	.	.	.	.	rs148440564	5/21	common_in_exac	ENST00000566228	Transcript	.	T:0.0006	ENSG00000048471	30542	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	SNX29_HUMAN	SNX29	HGNC	J3KNF2_HUMAN	.	UPI00000382F9	SNV	SNX29,synonymous_variant,p.%3D,ENST00000566228,;SNX29,non_coding_transcript_exon_variant,,ENST00000568359,;SNX29,3_prime_UTR_variant,,ENST00000569801,;SNX29,non_coding_transcript_exon_variant,,ENST00000564111,;	360	49	42	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29891311	29891311	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	58	0	ENST00000308713.5:c.1447C>T	p.Pro483Ser	p.P483S	ENST00000308713	NM_001114099.2	483	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS10659.1	1447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGGCGAT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000312550	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious(0.01)	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Pro483Ser,ENST00000308713,;SEZ6L2,missense_variant,p.Pro413Ser,ENST00000350527,;SEZ6L2,missense_variant,p.Pro369Ser,ENST00000346932,;SEZ6L2,missense_variant,p.Pro439Ser,ENST00000537485,;SEZ6L2,intron_variant,,ENST00000563118,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;	1975	58	47	SUCCESS
GAN	8139	.	GRCh37	16	81390417	81390417	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	42	123	0	ENST00000568107.2:c.661C>T	p.Leu221=	p.L221=	ENST00000568107	NM_022041.3	221	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10935.1	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTGTGG	NONE	.	.	hmmpanther:PTHR24412:SF167,hmmpanther:PTHR24412,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875	.	.	ENSP00000476795	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000568107	Transcript	.	.	ENSG00000261609	4137	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAN_HUMAN	GAN	HGNC	.	.	UPI000000DAB6	SNV	GAN,synonymous_variant,p.%3D,ENST00000568107,;	823	123	135	SUCCESS
ZNF469	84627	.	GRCh37	16	88494198	88494198	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1386480681	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	37	0	ENST00000437464.1:c.320G>T	p.Arg107Met	p.R107M	ENST00000437464	NM_001127464.1	107	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS45544.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAGGCTGG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Arg107Met,ENST00000565624,;ZNF469,missense_variant,p.Arg107Met,ENST00000437464,;	320	37	29	SUCCESS
SLC47A1	55244	.	GRCh37	17	19459199	19459199	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766901352	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	24	0	ENST00000270570.4:c.830A>G	p.Tyr277Cys	p.Y277C	ENST00000270570	NM_018242.2	277	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11209.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTATGAGG	NONE	.	.	hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF73,Pfam_domain:PF01554,TIGRFAM_domain:TIGR00797	.	.	ENSP00000270570	.	9/17	.	.	.	.	.	.	.	.	rs766901352	9/17	PASS	ENST00000270570	Transcript	.	.	ENSG00000142494	25588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	S47A1_HUMAN	SLC47A1	HGNC	B4E3B2_HUMAN,B4DPA7_HUMAN	.	UPI0000071042	SNV	SLC47A1,missense_variant,p.Tyr254Cys,ENST00000436810,;SLC47A1,missense_variant,p.Tyr82Cys,ENST00000571335,;SLC47A1,missense_variant,p.Tyr277Cys,ENST00000270570,;SLC47A1,missense_variant,p.Tyr277Cys,ENST00000457293,;SLC47A1,missense_variant,p.Tyr277Cys,ENST00000395585,;SLC47A1,synonymous_variant,p.%3D,ENST00000542886,;SLC47A1,intron_variant,,ENST00000575023,;SNORA59B,upstream_gene_variant,,ENST00000458926,;RP11-1113L8.1,downstream_gene_variant,,ENST00000574267,;SNORA59B,upstream_gene_variant,,ENST00000578183,;SLC47A1,downstream_gene_variant,,ENST00000584348,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000495425,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000573009,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000497548,;SLC47A1,intron_variant,,ENST00000575377,;	916	24	21	SUCCESS
NSRP1	84081	.	GRCh37	17	28506153	28506156	+	frameshift_variant	Frame_Shift_Del	DEL	AAGG	AAGG	-	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	AAGG	AAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	178	48	277	0	ENST00000247026.5:c.348_351del	p.Lys116AsnfsTer28	p.K116Nfs*28	ENST00000247026	NM_032141.3	116	AAGGaa/aa	0	.	.	.	.	.	-	KE/X	protein_coding	YES	CCDS11255.1	346-349	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAAAAAGGAACAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31938,Pfam_domain:PF09745	.	.	ENSP00000247026	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000247026	Transcript	.	.	ENSG00000126653	25305	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NSRP1_HUMAN	NSRP1	HGNC	K7ERM9_HUMAN,K7EMD8_HUMAN,K7EK40_HUMAN	.	UPI000006E653	deletion	NSRP1,frameshift_variant,p.Lys116AsnfsTer28,ENST00000247026,;NSRP1,frameshift_variant,p.Lys62AsnfsTer28,ENST00000580103,;NSRP1,frameshift_variant,p.Lys62AsnfsTer?,ENST00000585881,;NSRP1,frameshift_variant,p.Lys62AsnfsTer28,ENST00000588614,;NSRP1,non_coding_transcript_exon_variant,,ENST00000581048,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,non_coding_transcript_exon_variant,,ENST00000577289,;NSRP1,3_prime_UTR_variant,,ENST00000584154,;NSRP1,3_prime_UTR_variant,,ENST00000475652,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,downstream_gene_variant,,ENST00000589608,;NSRP1,downstream_gene_variant,,ENST00000584317,;	409-412	277	226	SUCCESS
LRRC37B	114659	.	GRCh37	17	30351740	30351740	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	123	564	1	ENST00000341671.7:c.1690G>T	p.Gly564Ter	p.G564*	ENST00000341671	NM_052888.2	564	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS32609.1	1690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGGAAAC	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR23045:SF5,hmmpanther:PTHR23045	.	.	ENSP00000340519	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000341671	Transcript	.	.	ENSG00000185158	29070	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR37B_HUMAN	LRRC37B	HGNC	J3QL10_HUMAN,F5H5K1_HUMAN	.	UPI000044D37B	SNV	LRRC37B,stop_gained,p.Gly591Ter,ENST00000327564,;LRRC37B,stop_gained,p.Gly576Ter,ENST00000584368,;LRRC37B,stop_gained,p.Gly564Ter,ENST00000394713,;LRRC37B,stop_gained,p.Gly564Ter,ENST00000341671,;LRRC37B,stop_gained,p.Gly482Ter,ENST00000543378,;LRRC37B,downstream_gene_variant,,ENST00000579206,;LRRC37B,downstream_gene_variant,,ENST00000583342,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000581786,;LRRC37B,upstream_gene_variant,,ENST00000580871,;LRRC37B,stop_gained,p.Gly576Ter,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583204,;LRRC37B,upstream_gene_variant,,ENST00000583758,;LRRC37B,upstream_gene_variant,,ENST00000582815,;RP11-640N20.5,upstream_gene_variant,,ENST00000448026,;	1695	566	407	SUCCESS
EFTUD2	9343	.	GRCh37	17	42964016	42964016	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755063056	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	53	0	ENST00000426333.2:c.208G>A	p.Glu70Lys	p.E70K	ENST00000426333	NM_001142605.1	70	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS11489.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGGCTG	NONE	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF5	.	.	ENSP00000392094	.	3/28	.	.	.	.	.	.	.	.	rs755063056	3/28	PASS	ENST00000426333	Transcript	.	.	ENSG00000108883	30858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.16)	.	U5S1_HUMAN	EFTUD2	HGNC	K7EIV5_HUMAN,K7EIT3_HUMAN,B3KX19_HUMAN	.	UPI0000137931	SNV	EFTUD2,missense_variant,p.Glu35Lys,ENST00000402521,;EFTUD2,missense_variant,p.Glu70Lys,ENST00000591382,;EFTUD2,missense_variant,p.Glu70Lys,ENST00000426333,;EFTUD2,missense_variant,p.Glu70Lys,ENST00000592576,;EFTUD2,missense_variant,p.Glu70Lys,ENST00000592701,;EFTUD2,missense_variant,p.Glu70Lys,ENST00000593072,;RN7SL405P,downstream_gene_variant,,ENST00000582502,;EFTUD2,downstream_gene_variant,,ENST00000589211,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000589825,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000592408,;EFTUD2,intron_variant,,ENST00000588374,;EFTUD2,upstream_gene_variant,,ENST00000593200,;EFTUD2,upstream_gene_variant,,ENST00000586875,;	506	53	46	SUCCESS
INTS2	57508	.	GRCh37	17	59947136	59947136	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	69	0	ENST00000444766.3:c.3016A>G	p.Ile1006Val	p.I1006V	ENST00000444766	NM_020748.2	1006	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS45750.1	3016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAATGTACA	NONE	.	.	Pfam_domain:PF14750	.	.	ENSP00000414237	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000444766	Transcript	.	.	ENSG00000108506	29241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	INT2_HUMAN	INTS2	HGNC	J3KRH0_HUMAN,J3KMZ7_HUMAN	.	UPI0000E5A03A	SNV	INTS2,missense_variant,p.Ile1006Val,ENST00000444766,;INTS2,missense_variant,p.Ile998Val,ENST00000251334,;Y_RNA,downstream_gene_variant,,ENST00000365491,;INTS2,downstream_gene_variant,,ENST00000583822,;	3092	69	65	SUCCESS
AFG3L2	10939	.	GRCh37	18	12356735	12356735	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	55	0	ENST00000269143.3:c.1122A>C	p.Gly374=	p.G374=	ENST00000269143	NM_006796.2	374	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS11859.1	1122	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGATCCACT	NONE	.	.	HAMAP:MF_01458,hmmpanther:PTHR23076:SF45,hmmpanther:PTHR23076,Gene3D:3.40.50.300,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01241,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000269143	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000269143	Transcript	.	.	ENSG00000141385	315	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFG32_HUMAN	AFG3L2	HGNC	D3DUJ0_HUMAN	.	UPI000013D7FF	SNV	AFG3L2,synonymous_variant,p.%3D,ENST00000269143,;AFG3L2,downstream_gene_variant,,ENST00000590811,;AFG3L2,downstream_gene_variant,,ENST00000591848,;	1354	55	47	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60241963	60241963	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	106	0	ENST00000269499.5:c.2649T>G	p.Pro883=	p.P883=	ENST00000269499	NM_017742.4	883	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS45880.1	2649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTCAAAT	NONE	.	.	hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	.	.	ENSP00000269499	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,synonymous_variant,p.%3D,ENST00000586834,;ZCCHC2,synonymous_variant,p.%3D,ENST00000269499,;ZCCHC2,intron_variant,,ENST00000587612,;ZCCHC2,synonymous_variant,p.%3D,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;ZCCHC2,upstream_gene_variant,,ENST00000591145,;	3067	106	96	SUCCESS
MAN2B1	4125	.	GRCh37	19	12757461	12757461	+	synonymous_variant	Silent	SNP	T	T	C	rs764545554	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	69	0	ENST00000456935.2:c.3009A>G	p.Ser1003=	p.S1003=	ENST00000456935	NM_000528.3	1003	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS32919.1	3009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACTGAGGC	NONE	.	.	hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607,Gene3D:2.60.40.1360,Superfamily_domains:SSF74650	.	.	ENSP00000395473	.	24/24	.	.	.	.	.	.	.	.	rs764545554	24/24	PASS	ENST00000456935	Transcript	1	.	ENSG00000104774	6826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MA2B1_HUMAN	MAN2B1	HGNC	B4E0K9_HUMAN	.	UPI00000559EC	SNV	MAN2B1,synonymous_variant,p.%3D,ENST00000221363,;MAN2B1,synonymous_variant,p.%3D,ENST00000456935,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000480851,;CTD-2192J16.22,synonymous_variant,p.%3D,ENST00000597692,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000469423,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000493218,;CTD-2192J16.15,upstream_gene_variant,,ENST00000325000,;	3050	69	55	SUCCESS
SCN1B	6324	.	GRCh37	19	35524522	35524522	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	70	0	ENST00000262631.5:c.327C>T	p.Thr109=	p.T109=	ENST00000262631	NM_001037.4	109	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46047.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACCAATGT	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR10546	.	.	ENSP00000396915	.	3/3	.	.	.	.	.	.	.	.	COSM3532423,COSM3532422	3/3	PASS	ENST00000415950	Transcript	1	.	ENSG00000105711	10586	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SCN1B_HUMAN	SCN1B	HGNC	.	.	UPI00000473F0	SNV	SCN1B,synonymous_variant,p.%3D,ENST00000415950,;SCN1B,synonymous_variant,p.%3D,ENST00000262631,;SCN1B,intron_variant,,ENST00000595652,;CTD-2527I21.9,upstream_gene_variant,,ENST00000601692,;SCN1B,non_coding_transcript_exon_variant,,ENST00000596348,;SCN1B,upstream_gene_variant,,ENST00000602150,;	327	71	59	SUCCESS
GGN	199720	.	GRCh37	19	38877684	38877684	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	59	0	ENST00000334928.6:c.218T>C	p.Leu73Pro	p.L73P	ENST00000334928	NM_152657.3	73	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS12516.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGGGTC	NONE	.	.	hmmpanther:PTHR22979:SF18,hmmpanther:PTHR22979	.	.	ENSP00000334940	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000334928	Transcript	.	.	ENSG00000179168	18869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	GGN_HUMAN	GGN	HGNC	K7ENT5_HUMAN,K7EJI6_HUMAN	.	UPI0000073CAB	SNV	GGN,missense_variant,p.Leu73Pro,ENST00000334928,;GGN,intron_variant,,ENST00000586599,;GGN,downstream_gene_variant,,ENST00000587676,;SPRED3,upstream_gene_variant,,ENST00000338502,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000592035,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000592561,;PSMD8,downstream_gene_variant,,ENST00000215071,;PSMD8,downstream_gene_variant,,ENST00000585598,;SPRED3,upstream_gene_variant,,ENST00000586301,;SPRED3,upstream_gene_variant,,ENST00000587013,;AC005789.9,downstream_gene_variant,,ENST00000585411,;GGN,intron_variant,,ENST00000591809,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,intron_variant,,ENST00000585737,;SPRED3,upstream_gene_variant,,ENST00000586958,;PSMD8,downstream_gene_variant,,ENST00000590331,;SPRED3,upstream_gene_variant,,ENST00000590962,;	351	59	40	SUCCESS
LGALS7	3963	.	GRCh37	19	39262531	39262531	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	82	0	ENST00000378626.4:c.235G>T	p.Val79Phe	p.V79F	ENST00000378626	NM_002307.3	79	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS33012.1	235	SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACGCCCG	NONE	.	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF82,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	.	ENSP00000367891	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000378626	Transcript	.	.	ENSG00000205076	6568	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.375)	.	tolerated(0.17)	.	LEG7_HUMAN	LGALS7	HGNC	.	.	UPI000000D9FF	SNV	LGALS7,missense_variant,p.Val79Phe,ENST00000378626,;LGALS7,synonymous_variant,p.%3D,ENST00000599035,;CAPN12,upstream_gene_variant,,ENST00000601953,;	235	82	59	SUCCESS
ZNF230	7773	.	GRCh37	19	44515439	44515440	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs760202026	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	100	24	106	0	ENST00000429154.2:c.1254dup	p.Pro419ThrfsTer5	p.P419Tfs*5	ENST00000429154	NM_006300.3	416	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS33044.1	1248-1249	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCGGAAAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF176,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000409318	.	5/5	.	.	.	.	.	.	.	.	rs770372001	5/5	PASS	ENST00000429154	Transcript	.	.	ENSG00000159882	13024	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN230_HUMAN	ZNF230	HGNC	K7EMK6_HUMAN	.	UPI000016960C	insertion	ZNF230,frameshift_variant,p.Pro419ThrfsTer5,ENST00000429154,;ZNF230,downstream_gene_variant,,ENST00000585491,;ZNF230,downstream_gene_variant,,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;	1476-1477	106	124	SUCCESS
SHANK1	50944	.	GRCh37	19	51191257	51191258	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GG	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	42	0	ENST00000293441.1:c.2229_2230dup	p.Gln744ProfsTer7	p.Q744Pfs*7	ENST00000293441	NM_016148.2	744	caa/cCCaa	0	.	.	.	.	.	GG	Q/PX	protein_coding	YES	CCDS12799.1	2230-2231	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCTTGGCGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000293441	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	insertion	SHANK1,frameshift_variant,p.Gln744ProfsTer7,ENST00000391814,;SHANK1,frameshift_variant,p.Gln131ProfsTer7,ENST00000391813,;SHANK1,frameshift_variant,p.Gln735ProfsTer7,ENST00000359082,;SHANK1,frameshift_variant,p.Gln744ProfsTer7,ENST00000293441,;	2249-2250	42	29	SUCCESS
SIGLEC9	27180	.	GRCh37	19	51630358	51630358	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	48	0	ENST00000250360.3:c.820G>A	p.Val274Ile	p.V274I	ENST00000250360	NM_014441.2	274	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS56100.1	820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGTTGAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000413861	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000440804	Transcript	.	.	ENSG00000129450	10878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.07)	.	.	SIGLEC9	HGNC	.	.	UPI00017A75A8	SNV	SIGLEC9,missense_variant,p.Val274Ile,ENST00000440804,;SIGLEC9,missense_variant,p.Val25Ile,ENST00000599948,;SIGLEC9,missense_variant,p.Val274Ile,ENST00000250360,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	887	48	38	SUCCESS
LRRC8E	80131	.	GRCh37	19	7960521	7960521	+	synonymous_variant	Silent	SNP	G	G	A	rs772109390	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	98	0	ENST00000306708.6:c.33G>A	p.Thr11=	p.T11=	ENST00000306708	NM_025061.4	11	acG/acA	0	-:0.0068	.	.	.	.	A	T	protein_coding	YES	CCDS12189.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGGAACA	NONE	byFrequency	.	Pfam_domain:PF12534	.	-:0.0029	ENSP00000306524	.	2/3	.	.	.	.	.	.	.	.	rs772109390,rs775839238	2/3	PASS	ENST00000306708	Transcript	.	.	ENSG00000171017	26272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC8E_HUMAN	LRRC8E	HGNC	M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN	.	UPI0000201F4F	SNV	LRRC8E,synonymous_variant,p.%3D,ENST00000306708,;LRRC8E,synonymous_variant,p.%3D,ENST00000599367,;LRRC8E,synonymous_variant,p.%3D,ENST00000593511,;LRRC8E,synonymous_variant,p.%3D,ENST00000598224,;LRRC8E,intron_variant,,ENST00000600345,;AC010336.1,downstream_gene_variant,,ENST00000539278,;	134	98	50	SUCCESS
VPS72	6944	.	GRCh37	1	151158055	151158055	+	synonymous_variant	Silent	SNP	C	C	A	rs752210930	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	32	87	0	ENST00000368892.4:c.312G>T	p.Pro104=	p.P104=	ENST00000368892	NM_001271088.1	104	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS59201.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGGGGT	NONE	byFrequency	.	hmmpanther:PTHR13275,Pfam_domain:PF05764	.	.	ENSP00000346464	.	3/6	.	.	.	.	.	.	.	.	rs752210930,COSM3965797	3/6	PASS	ENST00000354473	Transcript	.	.	ENSG00000163159	11644	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	VPS72_HUMAN	VPS72	HGNC	.	.	UPI0000204210	SNV	VPS72,synonymous_variant,p.%3D,ENST00000368892,;VPS72,synonymous_variant,p.%3D,ENST00000354473,;VPS72,non_coding_transcript_exon_variant,,ENST00000463470,;VPS72,non_coding_transcript_exon_variant,,ENST00000496809,;VPS72,non_coding_transcript_exon_variant,,ENST00000471423,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;	349	87	125	SUCCESS
SPRR1B	6699	.	GRCh37	1	153004986	153004986	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	79	0	ENST00000307098.4:c.165G>A	p.Glu55=	p.E55=	ENST00000307098	NM_003125.2	55	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS30863.1	165	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAGCCCTG	NONE	.	.	hmmpanther:PTHR23263:SF49,hmmpanther:PTHR23263,Pfam_domain:PF02389,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000306461	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307098	Transcript	.	.	ENSG00000169469	11260	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,synonymous_variant,p.%3D,ENST00000307098,;SPRR1B,intron_variant,,ENST00000392661,;	230	79	59	SUCCESS
EPHA2	1969	.	GRCh37	1	16464616	16464616	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	19	0	ENST00000358432.5:c.1044G>A	p.Trp348Ter	p.W348*	ENST00000358432	NM_004431.3	348	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS169.1	1044	MUTECT|MUSE	.	GGCGTCCAGCG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF306,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000351209	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000358432	Transcript	.	.	ENSG00000142627	3386	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA2_HUMAN	EPHA2	HGNC	Q96HF4_HUMAN,Q8IZL0_HUMAN	.	UPI00000731AB	SNV	EPHA2,stop_gained,p.Trp348Ter,ENST00000358432,;EPHA2,non_coding_transcript_exon_variant,,ENST00000480202,;EPHA2,upstream_gene_variant,,ENST00000462805,;	1199	19	13	SUCCESS
PADI1	29943	.	GRCh37	1	17565194	17565194	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	111	0	ENST00000375471.4:c.1542C>T	p.Ala514=	p.A514=	ENST00000375471	NM_013358.2	514	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS178.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCCAGTT	NONE	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364620	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,synonymous_variant,p.%3D,ENST00000537499,;PADI1,synonymous_variant,p.%3D,ENST00000413717,;PADI1,synonymous_variant,p.%3D,ENST00000375471,;PADI1,5_prime_UTR_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000460293,;	1634	111	48	SUCCESS
LAMC1	3915	.	GRCh37	1	183101589	183101589	+	synonymous_variant	Silent	SNP	G	G	A	rs1261428031	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	33	96	0	ENST00000258341.4:c.3621G>A	p.Thr1207=	p.T1207=	ENST00000258341	NM_002293.3	1207	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1351.1	3621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACGTCAAC	NONE	.	.	hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574	.	.	ENSP00000258341	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,synonymous_variant,p.%3D,ENST00000258341,;LAMC1,non_coding_transcript_exon_variant,,ENST00000478064,;LAMC1,downstream_gene_variant,,ENST00000466964,;LAMC1,upstream_gene_variant,,ENST00000495918,;	3878	97	94	SUCCESS
ZNF362	149076	.	GRCh37	1	33760792	33760792	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	36	208	0	ENST00000373428.5:c.1032C>G	p.Pro344=	p.P344=	ENST00000373428		344	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS377.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCAACTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF454,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000446335	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000539719	Transcript	.	.	ENSG00000160094	18079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN362_HUMAN	ZNF362	HGNC	F5H055_HUMAN	.	UPI000013E046	SNV	ZNF362,synonymous_variant,p.%3D,ENST00000373428,;ZNF362,synonymous_variant,p.%3D,ENST00000539719,;AL513327.1,upstream_gene_variant,,ENST00000543783,;	1202	208	156	SUCCESS
TFAP2E	339488	.	GRCh37	1	36060160	36060160	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	69	0	ENST00000373235.3:c.1212C>T	p.Ala404=	p.A404=	ENST00000373235	NM_178548.3	404	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS393.2	1212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCTTCCA	NONE	.	.	hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF13,Pfam_domain:PF03299	.	.	ENSP00000362332	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373235	Transcript	.	.	ENSG00000116819	30774	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2E_HUMAN	TFAP2E	HGNC	.	.	UPI0000203EFC	SNV	TFAP2E,synonymous_variant,p.%3D,ENST00000373235,;	1420	69	43	SUCCESS
CD93	22918	.	GRCh37	20	23066708	23066708	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	28	0	ENST00000246006.4:c.122C>A	p.Ser41Ter	p.S41*	ENST00000246006	NM_012072.3	41	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS13149.1	122	RADIA|MUTECT|MUSE	.	TGCCCGAGTGG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,Gene3D:3.10.100.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000246006	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000246006	Transcript	.	.	ENSG00000125810	15855	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C1QR1_HUMAN	CD93	HGNC	.	.	UPI00001273BC	SNV	CD93,stop_gained,p.Ser41Ter,ENST00000246006,;	270	28	12	SUCCESS
BPIFB4	149954	.	GRCh37	20	31672781	31672781	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751101194	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	29	0	ENST00000375483.3:c.761G>A	p.Arg254His	p.R254H	ENST00000375483	NM_182519.2	254	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS13213.2	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGTGTGG	NONE	byFrequency	.	hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000364632	.	4/16	.	.	.	.	.	.	.	.	rs751101194	4/16	PASS	ENST00000375483	Transcript	.	.	ENSG00000186191	16179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious(0.04)	.	BPIB4_HUMAN	BPIFB4	HGNC	.	.	UPI0000206190	SNV	BPIFB4,missense_variant,p.Arg254His,ENST00000375483,;BPIFB4,intron_variant,,ENST00000445356,;	761	29	30	SUCCESS
PLCB4	5332	.	GRCh37	20	9449315	9449315	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	53	0	ENST00000278655.4:c.3310G>T	p.Glu1104Ter	p.E1104*	ENST00000278655	NM_182797.2	1104	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13104.1	3310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGGGAAAGG	BUFFER|p.E1104K|c.3310G>A|5,BUFFER|p.E1116K|c.3346G>A|3	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448	.	.	ENSP00000367762	.	32/36	.	.	.	.	.	.	.	.	COSM1713198,COSM3549601	32/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,stop_gained,p.Glu1104Ter,ENST00000334005,;PLCB4,stop_gained,p.Glu1116Ter,ENST00000414679,;PLCB4,stop_gained,p.Glu1104Ter,ENST00000278655,;PLCB4,stop_gained,p.Glu1116Ter,ENST00000378473,;PLCB4,stop_gained,p.Glu1104Ter,ENST00000378493,;PLCB4,stop_gained,p.Glu1104Ter,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	3325	53	47	SUCCESS
ADAMTS5	11096	.	GRCh37	21	28296456	28296456	+	synonymous_variant	Silent	SNP	C	C	T	rs925829179	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	51	0	ENST00000284987.5:c.2709G>A	p.Gln903=	p.Q903=	ENST00000284987	NM_007038.3	903	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS13579.1	2709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCTGGCA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000284987	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000284987	Transcript	.	.	ENSG00000154736	221	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS5_HUMAN	ADAMTS5	HGNC	.	.	UPI00001AEAC2	SNV	ADAMTS5,synonymous_variant,p.%3D,ENST00000284987,;AP001601.2,intron_variant,,ENST00000426771,;	2831	51	39	SUCCESS
EWSR1	2130	.	GRCh37	22	29664336	29664336	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	48	0	ENST00000397938.2:c.11C>G	p.Thr4Arg	p.T4R	ENST00000397938	NM_001163286.1	4	aCg/aGg	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS13852.2	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACGGGTG	NONE	.	.	hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238	.	.	ENSP00000400142	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000414183	Transcript	.	.	ENSG00000182944	3508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0.01)	.	EWS_HUMAN	EWSR1	HGNC	.	.	UPI000006DE88	SNV	EWSR1,missense_variant,p.Thr4Arg,ENST00000406548,;EWSR1,missense_variant,p.Thr4Arg,ENST00000397938,;EWSR1,missense_variant,p.Thr4Arg,ENST00000332035,;EWSR1,missense_variant,p.Thr4Arg,ENST00000415761,;EWSR1,missense_variant,p.Thr4Arg,ENST00000447973,;EWSR1,missense_variant,p.Thr4Arg,ENST00000444626,;EWSR1,missense_variant,p.Thr4Arg,ENST00000414183,;EWSR1,missense_variant,p.Thr4Arg,ENST00000332050,;EWSR1,missense_variant,p.Thr4Arg,ENST00000436425,;EWSR1,missense_variant,p.Thr4Arg,ENST00000455726,;EWSR1,missense_variant,p.Thr4Arg,ENST00000333395,;EWSR1,missense_variant,p.Thr4Arg,ENST00000331029,;EWSR1,missense_variant,p.Thr4Arg,ENST00000437155,;RHBDD3,upstream_gene_variant,,ENST00000406335,;RHBDD3,upstream_gene_variant,,ENST00000216085,;RHBDD3,upstream_gene_variant,,ENST00000414672,;EWSR1,splice_region_variant,,ENST00000485037,;EWSR1,splice_region_variant,,ENST00000483415,;RHBDD3,upstream_gene_variant,,ENST00000496342,;EWSR1,upstream_gene_variant,,ENST00000493426,;RHBDD3,upstream_gene_variant,,ENST00000493894,;RHBDD3,upstream_gene_variant,,ENST00000413137,;RHBDD3,upstream_gene_variant,,ENST00000488106,;	32	48	39	SUCCESS
FBLN1	2192	.	GRCh37	22	45960824	45960824	+	intron_variant	Intron	SNP	G	G	T	rs373139240	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	51	0	ENST00000327858.6:c.1698-9567G>T		p.*566*	ENST00000327858	NM_006486.2			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS14067.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGGTTCT	NONE	byCluster	.	.	.	T:0.0002	ENSP00000331544	.	.	.	.	.	.	.	.	.	.	rs373139240	.	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODIFIER	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Arg586Ser,ENST00000442170,;FBLN1,missense_variant,p.Arg586Ser,ENST00000348697,;FBLN1,intron_variant,,ENST00000327858,;FBLN1,downstream_gene_variant,,ENST00000402984,;FBLN1,downstream_gene_variant,,ENST00000262722,;	.	51	37	SUCCESS
C22orf26	0	.	GRCh37	22	46449729	46449729	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	12	0	ENST00000396008.2:c.245C>A	p.Pro82Gln	p.P82Q	ENST00000396008		82	cCg/cAg	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS14071.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AACGCGGAGCA	NONE	.	.	hmmpanther:PTHR16253:SF1,hmmpanther:PTHR16253,Low_complexity_(Seg):seg	.	.	ENSP00000379329	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000396008	Transcript	.	.	ENSG00000182257	25606	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.44)	.	CV026_HUMAN	C22orf26	HGNC	.	.	UPI0000071D52	SNV	C22orf26,missense_variant,p.Pro82Gln,ENST00000333761,;C22orf26,missense_variant,p.Pro82Gln,ENST00000396008,;FLJ27365,upstream_gene_variant,,ENST00000381051,;RP6-109B7.2,downstream_gene_variant,,ENST00000439423,;RP6-109B7.3,non_coding_transcript_exon_variant,,ENST00000416202,;RP6-109B7.3,upstream_gene_variant,,ENST00000445441,;RP6-109B7.5,downstream_gene_variant,,ENST00000608644,;RP6-109B7.3,upstream_gene_variant,,ENST00000451166,;	296	12	13	SUCCESS
TPO	7173	.	GRCh37	2	1499804	1499804	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771942015	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	30	0	ENST00000329066.4:c.2050C>T	p.Arg684Cys	p.R684C	ENST00000329066	NM_001206744.1	684	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1643.1	2050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCGTGAG	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	12/17	.	.	.	.	.	.	.	.	rs771942015,COSM88695	12/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.013)	.	tolerated(0.05)	0,1	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Arg684Cys,ENST00000329066,;TPO,missense_variant,p.Arg684Cys,ENST00000337415,;TPO,missense_variant,p.Arg511Cys,ENST00000382198,;TPO,missense_variant,p.Arg627Cys,ENST00000382201,;TPO,missense_variant,p.Arg159Cys,ENST00000446278,;TPO,missense_variant,p.Arg511Cys,ENST00000349624,;TPO,missense_variant,p.Arg684Cys,ENST00000346956,;TPO,missense_variant,p.Arg158Cys,ENST00000469607,;TPO,missense_variant,p.Arg613Cys,ENST00000422464,;TPO,missense_variant,p.Arg684Cys,ENST00000345913,;TPO,intron_variant,,ENST00000462973,;TPO,intron_variant,,ENST00000497517,;	2141	30	32	SUCCESS
SCN2A	6326	.	GRCh37	2	166229735	166229735	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	21	98	0	ENST00000283256.6:c.3850G>C	p.Val1284Leu	p.V1284L	ENST00000283256	NM_021007.2	1284	Gtc/Ctc	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS33313.1	3850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGGTCTCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF133,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000349973	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000357398	Transcript	.	.	ENSG00000136531	10588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0)	.	SCN2A_HUMAN	SCN2A	HGNC	F8T7W7_HUMAN	.	UPI000002A663	SNV	SCN2A,missense_variant,p.Val1284Leu,ENST00000283256,;SCN2A,missense_variant,p.Val1284Leu,ENST00000375437,;SCN2A,missense_variant,p.Val1284Leu,ENST00000375427,;SCN2A,missense_variant,p.Val1284Leu,ENST00000357398,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	4140	98	91	SUCCESS
PPIG	9360	.	GRCh37	2	170460700	170460700	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	85	0	ENST00000260970.3:c.65G>T	p.Gly22Val	p.G22V	ENST00000260970	NM_004792.2	22	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2235.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGAAGAG	NONE	.	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF56,Pfam_domain:PF00160,Gene3D:2.40.100.10,Superfamily_domains:SSF50891	.	.	ENSP00000260970	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000260970	Transcript	.	.	ENSG00000138398	14650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PPIG_HUMAN	PPIG	HGNC	C9JT64_HUMAN,C9JN15_HUMAN	.	UPI000013D124	SNV	PPIG,missense_variant,p.Gly22Val,ENST00000409714,;PPIG,missense_variant,p.Gly22Val,ENST00000414307,;PPIG,missense_variant,p.Gly22Val,ENST00000260970,;PPIG,missense_variant,p.Gly22Val,ENST00000462903,;PPIG,missense_variant,p.Gly22Val,ENST00000418888,;PPIG,missense_variant,p.Gly22Val,ENST00000448752,;PPIG,intron_variant,,ENST00000433207,;PPIG,non_coding_transcript_exon_variant,,ENST00000530152,;PPIG,missense_variant,p.Gly22Val,ENST00000417938,;	285	85	66	SUCCESS
TTN	7273	.	GRCh37	2	179439946	179439946	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	75	0	ENST00000591111.1:c.65990T>G	p.Ile21997Ser	p.I21997S	ENST00000591111		21997	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS59435.1	70913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAGATGCCA	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ile14698Ser,ENST00000359218,;TTN,missense_variant,p.Ile21997Ser,ENST00000591111,;TTN,missense_variant,p.Ile23638Ser,ENST00000589042,;TTN,missense_variant,p.Ile14765Ser,ENST00000342175,;TTN,missense_variant,p.Ile21070Ser,ENST00000342992,;TTN,missense_variant,p.Ile14573Ser,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	71138	75	52	SUCCESS
ZNF804A	91752	.	GRCh37	2	185800549	185800549	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	67	0	ENST00000302277.6:c.426T>C	p.Val142=	p.V142=	ENST00000302277	NM_194250.1	142	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2291.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTTACTGT	NONE	.	.	hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	.	.	ENSP00000303252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302277	Transcript	.	.	ENSG00000170396	21711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z804A_HUMAN	ZNF804A	HGNC	.	.	UPI00001B4B18	SNV	ZNF804A,synonymous_variant,p.%3D,ENST00000302277,;	1020	67	61	SUCCESS
COL5A2	1290	.	GRCh37	2	189907465	189907465	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	42	0	ENST00000374866.3:c.3506C>G	p.Pro1169Arg	p.P1169R	ENST00000374866	NM_000393.3	1169	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS33350.1	3506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGGGATT	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,Low_complexity_(Seg):seg	.	.	ENSP00000364000	.	49/54	.	.	.	.	.	.	.	.	.	49/54	PASS	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,missense_variant,p.Pro1169Arg,ENST00000374866,;	3781	42	38	SUCCESS
ASXL2	55252	.	GRCh37	2	25965885	25965885	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	33	0	ENST00000435504.4:c.3321G>T	p.Met1107Ile	p.M1107I	ENST00000435504		1107	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	3321	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCATGAA	NONE	.	.	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	tolerated(0.1)	.	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Met590Ile,ENST00000272341,;ASXL2,missense_variant,p.Met1079Ile,ENST00000336112,;ASXL2,missense_variant,p.Met590Ile,ENST00000404843,;ASXL2,missense_variant,p.Met1107Ile,ENST00000435504,;	3615	33	52	SUCCESS
NFU1	27247	.	GRCh37	2	69650764	69650764	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	90	0	ENST00000410022.2:c.252G>T	p.Arg84Ser	p.R84S	ENST00000410022	NM_001002755.2	84	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS33217.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCCTTGT	NONE	.	.	hmmpanther:PTHR11178,hmmpanther:PTHR11178:SF1,Pfam_domain:PF08712,Gene3D:2ffmA00,SMART_domains:SM00932,PIRSF_domain:PIRSF036773,Superfamily_domains:0042426	.	.	ENSP00000387219	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000410022	Transcript	.	.	ENSG00000169599	16287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.16)	.	NFU1_HUMAN	NFU1	HGNC	F8W9P7_HUMAN,C9J8Q1_HUMAN	.	UPI00001B3DAF	SNV	NFU1,missense_variant,p.Arg84Ser,ENST00000410022,;NFU1,missense_variant,p.Arg60Ser,ENST00000303698,;NFU1,intron_variant,,ENST00000394305,;NFU1,intron_variant,,ENST00000484177,;NFU1,intron_variant,,ENST00000450796,;NFU1,intron_variant,,ENST00000471185,;NFU1,3_prime_UTR_variant,,ENST00000419370,;NFU1,intron_variant,,ENST00000438184,;	458	90	85	SUCCESS
CYP26B1	56603	.	GRCh37	2	72374800	72374800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	57	0	ENST00000001146.2:c.164G>T	p.Gly55Val	p.G55V	ENST00000001146	NM_019885.3	55	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1919.1	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCCCATG	NONE	.	.	hmmpanther:PTHR24288,hmmpanther:PTHR24288:SF9,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000001146	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000001146	Transcript	.	.	ENSG00000003137	20581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CP26B_HUMAN	CYP26B1	HGNC	E7ER08_HUMAN	.	UPI000003DC62	SNV	CYP26B1,missense_variant,p.Gly55Val,ENST00000546307,;CYP26B1,missense_variant,p.Gly55Val,ENST00000474509,;CYP26B1,missense_variant,p.Gly55Val,ENST00000001146,;CYP26B1,upstream_gene_variant,,ENST00000412253,;CYP26B1,upstream_gene_variant,,ENST00000461519,;	368	57	46	SUCCESS
TFG	10342	.	GRCh37	3	100467366	100467366	+	synonymous_variant	Silent	SNP	T	T	G	rs751968052	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	31	0	ENST00000240851.4:c.1194T>G	p.Gly398=	p.G398=	ENST00000240851	NM_001195478.1	398	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS2939.1	1194	MUTECT|MUSE	.	CCTGGTTATCG	NONE	.	.	hmmpanther:PTHR15335	.	.	ENSP00000240851	.	8/8	.	.	.	.	.	.	.	.	rs751968052	8/8	PASS	ENST00000240851	Transcript	.	.	ENSG00000114354	11758	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TFG_HUMAN	TFG	HGNC	C9JUE0_HUMAN,C9JTY3_HUMAN,C9JJP5_HUMAN	.	UPI0000073CDE	SNV	TFG,synonymous_variant,p.%3D,ENST00000240851,;TFG,synonymous_variant,p.%3D,ENST00000490574,;TFG,synonymous_variant,p.%3D,ENST00000418917,;TFG,synonymous_variant,p.%3D,ENST00000476228,;ABI3BP,downstream_gene_variant,,ENST00000495591,;ABI3BP,downstream_gene_variant,,ENST00000383691,;ABI3BP,downstream_gene_variant,,ENST00000284322,;ABI3BP,downstream_gene_variant,,ENST00000471714,;TFG,non_coding_transcript_exon_variant,,ENST00000481203,;ABI3BP,downstream_gene_variant,,ENST00000487012,;ABI3BP,downstream_gene_variant,,ENST00000497021,;ABI3BP,downstream_gene_variant,,ENST00000470336,;	1534	31	22	SUCCESS
CBLB	868	.	GRCh37	3	105586253	105586253	+	splice_donor_variant	Splice_Site	DEL	C	C	-	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	58	0	ENST00000264122.4:c.168+1del		p.X56_splice	ENST00000264122	NM_170662.3	56		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2948.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTTACCACTT	NONE	.	.	.	.	.	ENSP00000264122	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264122	Transcript	.	.	ENSG00000114423	1542	.	.	HIGH	2/18	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBLB_HUMAN	CBLB	HGNC	C9JU85_HUMAN,B5MC15_HUMAN	.	UPI00001AE89F	deletion	CBLB,splice_donor_variant,,ENST00000443752,;CBLB,splice_donor_variant,,ENST00000545639,;CBLB,splice_donor_variant,,ENST00000405772,;CBLB,splice_donor_variant,,ENST00000447441,;CBLB,splice_donor_variant,,ENST00000403724,;CBLB,splice_donor_variant,,ENST00000438603,;CBLB,splice_donor_variant,,ENST00000394027,;CBLB,splice_donor_variant,,ENST00000264122,;	.	58	67	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	85	0	ENST00000349496.5:c.1004A>C	p.Lys335Thr	p.K335T	ENST00000349496	NM_001904.3	335	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS2694.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAAACTAC	CODON|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.973)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Thr,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Thr,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Thr,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Thr,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Thr,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	85	106	SUCCESS
HIGD1A	25994	.	GRCh37	3	42826810	42826810	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs368330989	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	400	98	600	0	ENST00000321331.7:c.235A>G	p.Met79Val	p.M79V	ENST00000321331	NM_001099669.1	79	Atg/Gtg	0	C:0	.	.	.	.	C	M/V	protein_coding	YES	CCDS46806.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCATACCTA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51503,hmmpanther:PTHR12297:SF5,hmmpanther:PTHR12297	.	C:0.0001	ENSP00000398064	.	4/4	.	.	.	.	.	.	.	.	rs368330989	4/4	PASS	ENST00000452906	Transcript	.	.	ENSG00000181061	29527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	HIG1A_HUMAN	HIGD1A	HGNC	.	.	UPI000020A587	SNV	HIGD1A,missense_variant,p.Met79Val,ENST00000418900,;HIGD1A,missense_variant,p.Met93Val,ENST00000452906,;HIGD1A,missense_variant,p.Tyr84Cys,ENST00000430190,;HIGD1A,missense_variant,p.Met79Val,ENST00000321331,;HIGD1A,splice_region_variant,,ENST00000470543,;HIGD1A,intron_variant,,ENST00000431549,;	519	600	499	SUCCESS
SETD2	29072	.	GRCh37	3	47162395	47162395	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768083138	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	74	0	ENST00000409792.3:c.3731C>T	p.Pro1244Leu	p.P1244L	ENST00000409792	NM_014159.6	1244	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS2749.2	3731	RADIA|MUTECT|MUSE|VARSCANS	.	CATGTGGTATC	NONE	byFrequency	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	rs768083138	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	deleterious_low_confidence(0)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Pro1244Leu,ENST00000409792,;SETD2,missense_variant,p.Pro1200Leu,ENST00000412450,;SETD2,missense_variant,p.Pro878Leu,ENST00000445387,;SETD2,missense_variant,p.Pro1116Leu,ENST00000330022,;SETD2,missense_variant,p.Pro962Leu,ENST00000431180,;	3774	74	69	SUCCESS
C4orf17	84103	.	GRCh37	4	100463066	100463066	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	8	214	0	ENST00000326581.4:c.881-1G>C		p.X294_splice	ENST00000326581	NM_032149.2	294		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3649.1	.	MUTECT|MUSE	.	TTTCAGAGGCT	NONE	.	.	.	.	.	ENSP00000322582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326581	Transcript	.	.	ENSG00000138813	25274	.	.	HIGH	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD017_HUMAN	C4orf17	HGNC	.	.	UPI0000141987	SNV	C4orf17,splice_acceptor_variant,,ENST00000326581,;TRMT10A,downstream_gene_variant,,ENST00000273962,;TRMT10A,downstream_gene_variant,,ENST00000394877,;C4orf17,downstream_gene_variant,,ENST00000514652,;C4orf17,splice_acceptor_variant,,ENST00000477187,;	.	214	161	SUCCESS
PCDH10	57575	.	GRCh37	4	134071449	134071449	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	85	0	ENST00000264360.5:c.154G>A	p.Gly52Arg	p.G52R	ENST00000264360	NM_032961.1	52	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS34063.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCGGGTTT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028	.	.	ENSP00000264360	.	1/5	.	.	.	.	.	.	.	.	COSM585838	1/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated(1)	1	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,missense_variant,p.Gly52Arg,ENST00000264360,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;PCDH10,upstream_gene_variant,,ENST00000511112,;	980	85	75	SUCCESS
PRMT10	0	.	GRCh37	4	148579096	148579097	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	AGGCTTTTTAGTTGCA	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	103	12	95	0	ENST00000322396.6:c.1161_1176dup	p.Asp393CysfsTer3	p.D393Cfs*3	ENST00000322396	NM_138364.2	392	-/TGCAACTAAAAAGCCT	0	.	.	.	.	.	AGGCTTTTTAGTTGCA	-/CN*KAX	protein_coding	YES	CCDS3771.1	1176-1177	INDELOCATOR|VARSCANI	.	CTTATCAGGCT	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48,Gene3D:2.70.160.11,Superfamily_domains:SSF53335	.	.	ENSP00000314396	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000322396	Transcript	.	.	ENSG00000164169	25099	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANM10_HUMAN	PRMT10	HGNC	B3KU92_HUMAN	.	UPI000004971D	insertion	PRMT10,stop_gained,p.Asp393CysfsTer3,ENST00000322396,;PRMT10,stop_gained,p.Asp280CysfsTer3,ENST00000541232,;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,3_prime_UTR_variant,,ENST00000514886,;PRMT10,non_coding_transcript_exon_variant,,ENST00000510269,;	1419-1420	95	115	SUCCESS
KIAA0232	9778	.	GRCh37	4	6863165	6863165	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	104	0	ENST00000307659.5:c.1056C>T	p.Ser352=	p.S352=	ENST00000307659	NM_014743.2	352	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43209.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCAGTAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17611,Pfam_domain:PF15376	.	.	ENSP00000303928	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000307659	Transcript	.	.	ENSG00000170871	28992	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0232_HUMAN	KIAA0232	HGNC	D6REK0_HUMAN	.	UPI000013EC3F	SNV	KIAA0232,synonymous_variant,p.%3D,ENST00000307659,;KIAA0232,synonymous_variant,p.%3D,ENST00000425103,;KIAA0232,downstream_gene_variant,,ENST00000503069,;	1511	104	84	SUCCESS
ALB	213	.	GRCh37	4	74283386	74283387	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TG	TG	-	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	102	0	ENST00000295897.4:c.1428+2_1428+3del		p.X476_splice	ENST00000295897	NM_000477.5	476		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	1428-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTATGTGAGT	NONE	.	.	.	.	.	ENSP00000295897	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	HIGH	11/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1517-?	102	82	SUCCESS
ALB	213	.	GRCh37	4	74285295	74285296	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	50	0	ENST00000295897.4:c.1725dup	p.Ala576ArgfsTer11	p.A576Rfs*11	ENST00000295897	NM_000477.5	575	ttc/ttCc	0	.	.	.	.	.	C	F/FX	protein_coding	YES	CCDS3555.1	1724-1725	INDELOCATOR*|VARSCANI*|PINDEL	.	TGATTTCGCAG	CODON|p.F575F|c.1725C>T|3	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PROSITE_patterns:PS00212,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.Ala576ArgfsTer11,ENST00000509063,;ALB,frameshift_variant,p.Ala421ArgfsTer11,ENST00000511370,;ALB,frameshift_variant,p.Ala384ArgfsTer11,ENST00000415165,;ALB,frameshift_variant,p.Ala576ArgfsTer11,ENST00000295897,;ALB,frameshift_variant,p.Ala426ArgfsTer11,ENST00000503124,;ALB,frameshift_variant,p.Ala461ArgfsTer11,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,intron_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1813-1814	50	76	SUCCESS
ABCG2	9429	.	GRCh37	4	89028333	89028333	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	63	0	ENST00000237612.3:c.1277+3A>T		p.X426_splice	ENST00000237612	NM_004827.2	426		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3628.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTACCTG	NONE	.	.	.	.	.	ENSP00000237612	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000237612	Transcript	1	.	ENSG00000118777	74	.	.	LOW	10/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCG2_HUMAN	ABCG2	HGNC	F8S0F2_HUMAN	.	UPI0000001275	SNV	ABCG2,splice_region_variant,,ENST00000515655,;ABCG2,splice_region_variant,,ENST00000237612,;	.	63	42	SUCCESS
BMPR1B	658	.	GRCh37	4	96052422	96052422	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	32	152	0	ENST00000264568.4:c.835A>G	p.Thr279Ala	p.T279A	ENST00000264568	NM_001256794.1	279	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS58919.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCACAGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF62,hmmpanther:PTHR23255,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000401907	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000440890	Transcript	1	.	ENSG00000138696	1077	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BMR1B_HUMAN	BMPR1B	HGNC	D6RGW8_HUMAN	.	UPI00017A7CB9	SNV	BMPR1B,missense_variant,p.Thr309Ala,ENST00000440890,;BMPR1B,missense_variant,p.Thr279Ala,ENST00000264568,;BMPR1B,missense_variant,p.Thr279Ala,ENST00000509540,;BMPR1B,missense_variant,p.Thr279Ala,ENST00000512312,;BMPR1B,missense_variant,p.Thr279Ala,ENST00000394931,;BMPR1B,missense_variant,p.Thr279Ala,ENST00000515059,;	946	152	127	SUCCESS
ZNF608	57507	.	GRCh37	5	123979216	123979216	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	26	111	0	ENST00000306315.5:c.4284C>T	p.Ser1428=	p.S1428=	ENST00000306315	NM_020747.2	1428	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34219.1	4284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGCTGCG	NONE	.	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,synonymous_variant,p.%3D,ENST00000306315,;ZNF608,synonymous_variant,p.%3D,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,non_coding_transcript_exon_variant,,ENST00000503896,;ZNF608,non_coding_transcript_exon_variant,,ENST00000513985,;ZNF608,3_prime_UTR_variant,,ENST00000505686,;	4720	111	104	SUCCESS
PCDHA9	9752	.	GRCh37	5	140227952	140227952	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	37	0	ENST00000532602.1:c.-129G>T		p.*43*	ENST00000532602	NM_031857.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54920.1	.	MUTECT|MUSE	.	AAGAGGCTCAA	NONE	.	.	.	.	.	ENSP00000436042	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,5_prime_UTR_variant,,ENST00000378122,;PCDHA9,5_prime_UTR_variant,,ENST00000532602,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA8,downstream_gene_variant,,ENST00000378123,;	905	37	26	SUCCESS
PCDHA14	26307	.	GRCh37	5	140242341	140242341	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	18	0	ENST00000506751.1:n.1482G>T		p.*494*	ENST00000506751				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCGGCAAG	NONE	.	.	.	.	.	ENSP00000424817	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000502505	Transcript	.	.	ENSG00000249034	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC005609.1	Clone_based_ensembl_gene	Q8NB83_HUMAN	.	UPI0000073A41	SNV	AC005609.1,3_prime_UTR_variant,,ENST00000502505,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;	884	18	14	SUCCESS
GRPEL2	134266	.	GRCh37	5	148725167	148725167	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	121	0	ENST00000329271.3:c.65C>G	p.Ala22Gly	p.A22G	ENST00000329271	NM_152407.3	22	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS4295.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCGCGTGGG	NONE	.	.	hmmpanther:PTHR21237,hmmpanther:PTHR21237:SF10	.	.	ENSP00000329558	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000329271	Transcript	.	.	ENSG00000164284	21060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.12)	.	GRPE2_HUMAN	GRPEL2	HGNC	Q8N3S0_HUMAN	.	UPI000004A0F1	SNV	GRPEL2,missense_variant,p.Ala22Gly,ENST00000513661,;GRPEL2,missense_variant,p.Ala22Gly,ENST00000416916,;GRPEL2,missense_variant,p.Ala22Gly,ENST00000329271,;AFAP1L1,downstream_gene_variant,,ENST00000296721,;GRPEL2-AS1,downstream_gene_variant,,ENST00000521295,;GRPEL2,upstream_gene_variant,,ENST00000507562,;AFAP1L1,downstream_gene_variant,,ENST00000513665,;	175	121	82	SUCCESS
LCP2	3937	.	GRCh37	5	169694194	169694194	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	17	0	ENST00000046794.5:c.622-115G>T		p.*208*	ENST00000046794	NM_005565.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47339.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACATCCA	NONE	.	.	.	.	.	ENSP00000046794	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODIFIER	8/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,5_prime_UTR_variant,,ENST00000521416,;LCP2,5_prime_UTR_variant,,ENST00000520344,;LCP2,intron_variant,,ENST00000046794,;LCP2,downstream_gene_variant,,ENST00000519594,;	.	17	15	SUCCESS
PRDM9	56979	.	GRCh37	5	23526529	23526529	+	synonymous_variant	Silent	SNP	A	A	G	rs747335393	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	106	0	ENST00000296682.3:c.1332A>G	p.Pro444=	p.P444=	ENST00000296682	NM_020227.2	444	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS43307.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCACACAG	NONE	byFrequency	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21	.	.	ENSP00000296682	.	11/11	.	.	.	.	.	.	.	.	rs747335393	11/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,synonymous_variant,p.%3D,ENST00000296682,;	1514	107	82	SUCCESS
CEP85L	387119	.	GRCh37	6	118887408	118887408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	57	0	ENST00000368491.3:c.304G>T	p.Val102Leu	p.V102L	ENST00000368491	NM_001042475.2	102	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS55052.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACATGGG	NONE	.	.	hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF2	.	.	ENSP00000357474	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000368488	Transcript	.	.	ENSG00000111860	21638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	CE85L_HUMAN	CEP85L	HGNC	A2A3P3_HUMAN	.	UPI0001D1E40A	SNV	CEP85L,missense_variant,p.Val102Leu,ENST00000419517,;CEP85L,missense_variant,p.Val105Leu,ENST00000368488,;CEP85L,missense_variant,p.Val105Leu,ENST00000434604,;CEP85L,missense_variant,p.Val105Leu,ENST00000392500,;CEP85L,missense_variant,p.Val102Leu,ENST00000368491,;CEP85L,5_prime_UTR_variant,,ENST00000360290,;CEP85L,non_coding_transcript_exon_variant,,ENST00000462101,;CEP85L,non_coding_transcript_exon_variant,,ENST00000476150,;CEP85L,non_coding_transcript_exon_variant,,ENST00000472713,;CEP85L,non_coding_transcript_exon_variant,,ENST00000483035,;	380	57	44	SUCCESS
RAET1E-AS1	100652739	.	GRCh37	6	150240524	150240524	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs575555779	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	31	0	ENST00000446954.2:n.371C>T		p.*124*	ENST00000446954				0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS43514.1	.	MUTECT|MUSE	.	TTCCACTTGCA	NONE	by1000G	.	.	T:0	.	ENSP00000356329	T:0.001	.	.	.	.	.	.	.	.	.	rs575555779	.	PASS	ENST00000367360	Transcript	.	T:0.0002	ENSG00000203722	16795	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RET1G_HUMAN	RAET1G	HGNC	J7HEM2_HUMAN	.	UPI00003B0CBD	SNV	RAET1G,intron_variant,,ENST00000367360,;RAET1G,intron_variant,,ENST00000479265,;RP11-244K5.8,non_coding_transcript_exon_variant,,ENST00000606915,;RAET1E-AS1,non_coding_transcript_exon_variant,,ENST00000605899,;RAET1E-AS1,non_coding_transcript_exon_variant,,ENST00000446954,;RAET1G,intron_variant,,ENST00000367361,;	.	31	38	SUCCESS
PNLDC1	154197	.	GRCh37	6	160237044	160237044	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs137878641	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	40	0	ENST00000610273.1:c.1006G>T	p.Ala336Ser	p.A336S	ENST00000610273	NM_173516.2	336	Gcg/Tcg	0	A:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS64561.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGCGAGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15092:SF8,hmmpanther:PTHR15092,Pfam_domain:PF04857,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	A:0.0006	ENSP00000476448	.	13/19	.	.	.	.	.	.	.	.	rs137878641	13/19	PASS	ENST00000610273	Transcript	.	.	ENSG00000146453	21185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.2)	.	.	PNLDC1	HGNC	.	.	UPI00000717EB	SNV	PNLDC1,missense_variant,p.Ala336Ser,ENST00000610273,;PNLDC1,missense_variant,p.Ala347Ser,ENST00000392167,;PNLDC1,3_prime_UTR_variant,,ENST00000275275,;PNLDC1,non_coding_transcript_exon_variant,,ENST00000609658,;	1177	40	38	SUCCESS
CAPN11	11131	.	GRCh37	6	44147887	44147887	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	33	0	ENST00000398776.1:c.1627C>A	p.His543Asn	p.H543N	ENST00000398776	NM_007058.3	543	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS47436.1	1627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCACAGC	NONE	.	.	hmmpanther:PTHR10183:SF269,hmmpanther:PTHR10183,Pfam_domain:PF01067,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000381758	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000398776	Transcript	.	.	ENSG00000137225	1478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	tolerated(0.16)	.	CAN11_HUMAN	CAPN11	HGNC	.	.	UPI00000383D5	SNV	CAPN11,missense_variant,p.His543Asn,ENST00000398776,;CAPN11,missense_variant,p.His543Asn,ENST00000542245,;CAPN11,non_coding_transcript_exon_variant,,ENST00000533604,;CAPN11,non_coding_transcript_exon_variant,,ENST00000524554,;	1665	33	29	SUCCESS
RUNX2	860	.	GRCh37	6	45296216	45296216	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	68	0	ENST00000371438.1:c.-248C>A		p.*83*	ENST00000371438	NM_001024630.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43467.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACAGTCT	NONE	.	.	.	.	.	ENSP00000360493	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000371438	Transcript	.	.	ENSG00000124813	10472	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUNX2_HUMAN	RUNX2	HGNC	U3RG86_HUMAN	.	UPI000013532F	SNV	RUNX2,5_prime_UTR_variant,,ENST00000371438,;RUNX2,intron_variant,,ENST00000352853,;SUPT3H,intron_variant,,ENST00000371459,;RUNX2,intron_variant,,ENST00000541979,;SUPT3H,intron_variant,,ENST00000306867,;RUNX2,intron_variant,,ENST00000465038,;SUPT3H,intron_variant,,ENST00000371460,;RUNX2,upstream_gene_variant,,ENST00000371436,;RUNX2,upstream_gene_variant,,ENST00000576263,;RUNX2,non_coding_transcript_exon_variant,,ENST00000483243,;SUPT3H,intron_variant,,ENST00000459689,;RUNX2,intron_variant,,ENST00000483377,;SUPT3H,intron_variant,,ENST00000475057,;	111	68	57	SUCCESS
EYS	346007	.	GRCh37	6	65149117	65149117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	15	135	0	ENST00000370616.2:c.5773C>A	p.Gln1925Lys	p.Q1925K	ENST00000370616		1925	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS47445.1	5773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGCTTGA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000424243	.	27/43	.	.	.	.	.	.	.	.	.	27/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.05)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Gln1925Lys,ENST00000370616,;EYS,missense_variant,p.Gln1925Lys,ENST00000370621,;EYS,missense_variant,p.Gln1925Lys,ENST00000503581,;	6311	135	84	SUCCESS
KCNQ5	56479	.	GRCh37	6	73843259	73843259	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763590853	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	85	0	ENST00000370398.1:c.1363G>A	p.Glu455Lys	p.E455K	ENST00000370398	NM_019842.3	455	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55034.1	1420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGAGGGC	NONE	.	.	Pfam_domain:PF03520	.	.	ENSP00000345055	.	11/15	.	.	.	.	.	.	.	.	rs763590853,COSM3777836,COSM1312373,COSM3875368,COSM3777835	11/15	PASS	ENST00000342056	Transcript	.	.	ENSG00000185760	6299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	benign(0.163)	.	deleterious(0.01)	0,1,1,1,1	.	KCNQ5	HGNC	A6PVT6_HUMAN	.	UPI000155D644	SNV	KCNQ5,missense_variant,p.Glu47Lys,ENST00000427928,;KCNQ5,missense_variant,p.Glu474Lys,ENST00000342056,;KCNQ5,missense_variant,p.Glu465Lys,ENST00000402622,;KCNQ5,missense_variant,p.Glu455Lys,ENST00000355194,;KCNQ5,missense_variant,p.Glu455Lys,ENST00000370398,;KCNQ5,missense_variant,p.Glu456Lys,ENST00000355635,;KCNQ5,missense_variant,p.Glu446Lys,ENST00000403813,;KCNQ5,intron_variant,,ENST00000414165,;KCNQ5-AS1,downstream_gene_variant,,ENST00000429832,;	1818	85	45	SUCCESS
WNT2	7472	.	GRCh37	7	116960721	116960721	+	synonymous_variant	Silent	SNP	G	G	A	rs139486726	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	32	0	ENST00000265441.3:c.210C>T	p.Ala70=	p.A70=	ENST00000265441	NM_003391.2	70	gcC/gcT	0	A:0.0005	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS5771.1	210	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCGGCCAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	A:0.002	A:0	ENSP00000265441	A:0	2/5	.	.	.	.	.	.	.	.	rs139486726	2/5	PASS	ENST00000265441	Transcript	.	A:0.0004	ENSG00000105989	12780	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	WNT2_HUMAN	WNT2	HGNC	A4D0V1_HUMAN	.	UPI0000051044	SNV	WNT2,synonymous_variant,p.%3D,ENST00000491214,;WNT2,synonymous_variant,p.%3D,ENST00000265441,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,synonymous_variant,p.%3D,ENST00000449446,;WNT2,non_coding_transcript_exon_variant,,ENST00000461427,;	510	32	45	SUCCESS
HYAL4	23553	.	GRCh37	7	123514877	123514877	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	34	0	ENST00000223026.4:c.1017G>T	p.Trp339Cys	p.W339C	ENST00000223026	NM_012269.2	339	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS5789.1	1017	MUTECT|MUSE	.	ATTTGGGGAGA	NONE	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,Pfam_domain:PF01630,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7	.	.	ENSP00000223026	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000223026	Transcript	.	.	ENSG00000106302	5323	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	HYAL4_HUMAN	HYAL4	HGNC	C9JU18_HUMAN,C9J6F9_HUMAN	.	UPI000006F62B	SNV	HYAL4,missense_variant,p.Trp339Cys,ENST00000223026,;HYAL4,missense_variant,p.Trp339Cys,ENST00000476325,;HYAL4,missense_variant,p.Trp339Cys,ENST00000483878,;	1655	34	36	SUCCESS
POT1	25913	.	GRCh37	7	124465303	124465303	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	72	0	ENST00000357628.3:c.1792+3A>G		p.X598_splice	ENST00000357628	NM_015450.2	598		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5793.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTACCAA	NONE	.	.	.	.	.	ENSP00000350249	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357628	Transcript	.	.	ENSG00000128513	17284	.	.	LOW	18/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POTE1_HUMAN	POT1	HGNC	C9JPG9_HUMAN,A8MTK3_HUMAN	.	UPI0000073E3F	SNV	POT1,splice_region_variant,,ENST00000436534,;POT1,splice_region_variant,,ENST00000393329,;POT1,splice_region_variant,,ENST00000357628,;POT1,splice_region_variant,,ENST00000607932,;POT1,splice_region_variant,,ENST00000609106,;POT1,splice_region_variant,,ENST00000430927,;POT1,splice_region_variant,,ENST00000608057,;	.	72	62	SUCCESS
PCLO	27445	.	GRCh37	7	82538190	82538190	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	47	0	ENST00000333891.9:c.13437+3A>T		p.X4479_splice	ENST00000333891	NM_033026.5	4479		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47630.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTTACTTG	NONE	.	.	.	.	.	ENSP00000334319	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	8/24	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,splice_region_variant,,ENST00000333891,;PCLO,splice_region_variant,,ENST00000423517,;	.	47	42	SUCCESS
NPTX2	4885	.	GRCh37	7	98257930	98257930	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	61	0	ENST00000265634.3:c.1285C>T	p.Leu429Phe	p.L429F	ENST00000265634	NM_002523.2	429	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS5657.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCCTTGAC	NONE	.	.	hmmpanther:PTHR19277:SF1,hmmpanther:PTHR19277	.	.	ENSP00000265634	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000265634	Transcript	.	.	ENSG00000106236	7953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated_low_confidence(0.37)	.	NPTX2_HUMAN	NPTX2	HGNC	.	.	UPI000013040F	SNV	NPTX2,missense_variant,p.Leu429Phe,ENST00000265634,;NPTX2,downstream_gene_variant,,ENST00000466102,;	1450	61	46	SUCCESS
TSTA3	0	.	GRCh37	8	144695934	144695934	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	40	65	0	ENST00000425753.2:c.717C>T	p.Pro239=	p.P239=	ENST00000425753	NM_003313.3	239	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6408.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGGGCTC	NONE	.	.	HAMAP:MF_00956,hmmpanther:PTHR10366:SF259,hmmpanther:PTHR10366,Pfam_domain:PF01370,Superfamily_domains:SSF51735	.	.	ENSP00000398803	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000425753	Transcript	.	.	ENSG00000104522	12390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCL_HUMAN	TSTA3	HGNC	E9PP14_HUMAN,E9PLH9_HUMAN,E9PKL9_HUMAN	.	UPI000012A5A5	SNV	TSTA3,synonymous_variant,p.%3D,ENST00000529048,;TSTA3,synonymous_variant,p.%3D,ENST00000425753,;TSTA3,synonymous_variant,p.%3D,ENST00000529064,;TSTA3,downstream_gene_variant,,ENST00000526290,;PYCRL,upstream_gene_variant,,ENST00000377579,;TSTA3,downstream_gene_variant,,ENST00000533817,;TSTA3,upstream_gene_variant,,ENST00000524719,;TSTA3,downstream_gene_variant,,ENST00000527006,;PYCRL,upstream_gene_variant,,ENST00000220966,;PYCRL,upstream_gene_variant,,ENST00000433751,;PYCRL,upstream_gene_variant,,ENST00000495276,;TSTA3,non_coding_transcript_exon_variant,,ENST00000528920,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531473,;TSTA3,downstream_gene_variant,,ENST00000525274,;TSTA3,upstream_gene_variant,,ENST00000527677,;TSTA3,downstream_gene_variant,,ENST00000530474,;TSTA3,downstream_gene_variant,,ENST00000532308,;PYCRL,upstream_gene_variant,,ENST00000447926,;TSTA3,downstream_gene_variant,,ENST00000531006,;TSTA3,downstream_gene_variant,,ENST00000527549,;PYCRL,upstream_gene_variant,,ENST00000482616,;TSTA3,downstream_gene_variant,,ENST00000529899,;	821	65	112	SUCCESS
ABCA1	19	.	GRCh37	9	107618094	107618094	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	61	0	ENST00000374736.3:c.720+2709T>G		p.*240*	ENST00000374736	NM_005502.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6762.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAAACAC	NONE	.	.	.	.	.	ENSP00000363868	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	MODIFIER	7/49	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,missense_variant,p.Phe332Leu,ENST00000423487,;ABCA1,intron_variant,,ENST00000374736,;	.	61	47	SUCCESS
LAMC3	10319	.	GRCh37	9	133942439	133942439	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs529385350	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	39	0	ENST00000361069.4:c.2440G>A	p.Gly814Arg	p.G814R	ENST00000361069	NM_006059.3	814	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6938.1	2440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGGGAAC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Gene3D:2.10.25.10,Pfam_domain:PF00053,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,PROSITE_profiles:PS50027	.	.	ENSP00000354360	.	14/28	.	.	.	.	.	.	.	.	rs529385350,COSM75214	14/28	PASS	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.665)	.	deleterious(0.05)	0,1	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,missense_variant,p.Gly814Arg,ENST00000361069,;LAMC3,intron_variant,,ENST00000480883,;	2573	39	23	SUCCESS
NOTCH1	4851	.	GRCh37	9	139405212	139405212	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	64	0	ENST00000277541.6:c.2633G>A	p.Cys878Tyr	p.C878Y	ENST00000277541	NM_017617.3	878	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS43905.1	2633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCACGGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF37,hmmpanther:PTHR24033,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2gy5A03,PIRSF_domain:PIRSF002279,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000277541	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	SNV	NOTCH1,missense_variant,p.Cys878Tyr,ENST00000277541,;	2709	64	32	SUCCESS
NOL6	65083	.	GRCh37	9	33465828	33465828	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	42	0	ENST00000297990.4:c.2432G>A	p.Ser811Asn	p.S811N	ENST00000297990	NM_022917.4	811	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS6543.1	2432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCTCTGC	NONE	.	.	Pfam_domain:PF03813,hmmpanther:PTHR17972	.	.	ENSP00000297990	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000297990	Transcript	.	.	ENSG00000165271	19910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.13)	.	NOL6_HUMAN	NOL6	HGNC	.	.	UPI0000050326	SNV	NOL6,missense_variant,p.Ser811Asn,ENST00000297990,;NOL6,missense_variant,p.Ser811Asn,ENST00000379471,;NOL6,missense_variant,p.Ser759Asn,ENST00000455041,;NOL6,intron_variant,,ENST00000353159,;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	2520	42	37	SUCCESS
PRUNE2	158471	.	GRCh37	9	79320343	79320343	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	86	0	ENST00000376718.3:c.6847G>A	p.Asp2283Asn	p.D2283N	ENST00000376718	NM_015225.2	2283	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47982.1	6847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCAGGAA	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0.05)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Asp1605Asn,ENST00000426088,;PRUNE2,missense_variant,p.Asp2283Asn,ENST00000376718,;PRUNE2,missense_variant,p.Asp1924Asn,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	6971	86	87	SUCCESS
SPANXC	64663	.	GRCh37	X	140335728	140335728	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	126	169	0	ENST00000358993.2:c.216C>A	p.Ala72=	p.A72=	ENST00000358993	NM_022661.2	72	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14673.1	216	RADIA|MUTECT|MUSE	.	TCTCGGGCGTG	NONE	.	.	hmmpanther:PTHR23425:SF1,hmmpanther:PTHR23425,Pfam_domain:PF07458	.	.	ENSP00000351884	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358993	Transcript	.	.	ENSG00000198573	14331	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPNXC_HUMAN	SPANXC	HGNC	.	.	UPI000003B20F	SNV	SPANXC,synonymous_variant,p.%3D,ENST00000358993,;	255	169	207	SUCCESS
SPANXD	64648	.	GRCh37	X	140785700	140785700	+	synonymous_variant	Silent	SNP	G	G	T	rs782085224	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	408	63	371	0	ENST00000370515.3:c.216C>A	p.Ala72=	p.A72=	ENST00000370515	NM_145665.1	72	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14675.1	216	RADIA|MUTECT	.	TTTCGGGCGTG	BUFFER|p.K74E|c.220A>G|3,BUFFER|p.A72T|c.214G>A|3	byFrequency	.	hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF1,Pfam_domain:PF07458	.	.	ENSP00000359546	.	2/2	.	.	.	.	.	.	.	.	rs782085224	2/2	PASS	ENST00000370515	Transcript	.	.	ENSG00000196406	14332	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPNXD_HUMAN	SPANXD	HGNC	.	.	UPI0000070F37	SNV	SPANXD,synonymous_variant,p.%3D,ENST00000370515,;	550	371	471	SUCCESS
GABRQ	55879	.	GRCh37	X	151821124	151821124	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	40	61	0	ENST00000370306.2:c.1279G>C	p.Ala427Pro	p.A427P	ENST00000370306	NM_018558.3	427	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS14707.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCCACC	NONE	.	.	Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87,Low_complexity_(Seg):seg	.	.	ENSP00000359329	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,missense_variant,p.Ala427Pro,ENST00000370306,;	1299	61	77	SUCCESS
MXRA5	25878	.	GRCh37	X	3248697	3248697	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	51	0	ENST00000217939.6:c.306C>T	p.Leu102=	p.L102=	ENST00000217939	NM_015419.3	102	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14124.1	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGAGGTC	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000217939	.	3/7	.	.	.	.	.	.	.	.	COSM457407,COSM457408	3/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,synonymous_variant,p.%3D,ENST00000217939,;	461	51	31	SUCCESS
VSIG4	11326	.	GRCh37	X	65253415	65253415	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	47	0	ENST00000374737.4:c.313A>G	p.Met105Val	p.M105V	ENST00000374737	NM_001257403.1	105	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS14383.1	313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATCTCCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15466:SF1,hmmpanther:PTHR15466,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000363869	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000374737	Transcript	.	.	ENSG00000155659	17032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	tolerated(0.13)	.	VSIG4_HUMAN	VSIG4	HGNC	.	.	UPI000006F146	SNV	VSIG4,missense_variant,p.Met105Val,ENST00000455586,;VSIG4,missense_variant,p.Met105Val,ENST00000412866,;VSIG4,missense_variant,p.Met105Val,ENST00000374737,;VSIG4,missense_variant,p.Met32Val,ENST00000427538,;	422	47	57	SUCCESS
PDZD8	118987	.	GRCh37	10	119044292	119044292	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	105	0	ENST00000334464.5:c.1952T>G	p.Phe651Cys	p.F651C	ENST00000334464	NM_173791.3	651	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS7600.1	1952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAAATTGC	NONE	.	.	hmmpanther:PTHR21519,hmmpanther:PTHR21519:SF1	.	.	ENSP00000334642	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000334464	Transcript	.	.	ENSG00000165650	26974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.18)	.	PDZD8_HUMAN	PDZD8	HGNC	.	.	UPI00000723CC	SNV	PDZD8,missense_variant,p.Phe651Cys,ENST00000334464,;PDZD8,non_coding_transcript_exon_variant,,ENST00000482496,;PDZD8,downstream_gene_variant,,ENST00000489302,;	2192	105	81	SUCCESS
FBXO18	0	.	GRCh37	10	5952981	5952981	+	synonymous_variant	Silent	SNP	C	C	T	rs780493608	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	44	0	ENST00000379999.5:c.1254C>T	p.Cys418=	p.C418=	ENST00000379999	NM_032807.4	418	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS7073.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGCCTCCG	NONE	.	.	.	.	.	ENSP00000369335	.	7/22	.	.	.	.	.	.	.	.	rs780493608	7/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,synonymous_variant,p.%3D,ENST00000379999,;FBXO18,synonymous_variant,p.%3D,ENST00000362091,;FBXO18,5_prime_UTR_variant,,ENST00000397269,;FBXO18,downstream_gene_variant,,ENST00000469009,;FBXO18,downstream_gene_variant,,ENST00000462507,;FBXO18,downstream_gene_variant,,ENST00000494526,;FBXO18,downstream_gene_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000460453,;	1358	44	37	SUCCESS
SGPL1	8879	.	GRCh37	10	72636985	72636985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	76	0	ENST00000373202.3:c.1600G>A	p.Asp534Asn	p.D534N	ENST00000373202	NM_003901.3	534	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS31216.1	1600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGACAGG	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF63	.	.	ENSP00000362298	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000373202	Transcript	.	.	ENSG00000166224	10817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SGPL1_HUMAN	SGPL1	HGNC	.	.	UPI0000032F1A	SNV	SGPL1,missense_variant,p.Asp534Asn,ENST00000373202,;	1800	76	57	SUCCESS
KLLN	100144748	.	GRCh37	10	89621709	89621709	+	stop_retained_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	104	0	ENST00000445946.3:c.536G>A	p.Ter179=	p.*179=	ENST00000445946	NM_001126049.1	179	tGa/tAa	0	.	.	.	.	.	T	*	protein_coding	YES	CCDS44454.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCAGTCC	NONE	.	.	.	.	.	ENSP00000392204	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000445946	Transcript	1	.	ENSG00000227268	37212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KILIN_HUMAN	KLLN	HGNC	.	.	UPI0000197BAB	SNV	KLLN,stop_retained_variant,p.%3D,ENST00000445946,;PTEN,upstream_gene_variant,,ENST00000371953,;PTEN,upstream_gene_variant,,ENST00000487939,;PTEN,upstream_gene_variant,,ENST00000462694,;	1486	104	82	SUCCESS
TNKS2	80351	.	GRCh37	10	93579739	93579739	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	251	85	356	0	ENST00000371627.4:c.677T>C	p.Ile226Thr	p.I226T	ENST00000371627	NM_025235.3	226	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS7417.1	677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATTGTAC	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	.	.	ENSP00000360689	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000371627	Transcript	.	.	ENSG00000107854	15677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.329)	.	tolerated(0.24)	.	TNKS2_HUMAN	TNKS2	HGNC	.	.	UPI00000362BE	SNV	TNKS2,missense_variant,p.Ile226Thr,ENST00000371627,;	1056	356	336	SUCCESS
ZNF518A	9849	.	GRCh37	10	97916822	97916822	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	95	0	ENST00000316045.5:n.572-825A>T		p.*191*	ENST00000316045				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGAGCTTC	NONE	.	.	.	.	.	.	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000478086,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	1600	95	99	SUCCESS
HTR3B	9177	.	GRCh37	11	113775680	113775680	+	synonymous_variant	Silent	SNP	C	C	T	rs1392501687	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	68	0	ENST00000260191.2:c.25C>T	p.Leu9=	p.L9=	ENST00000260191	NM_006028.4	9	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8364.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCTGTGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945:SF53,hmmpanther:PTHR18945	.	.	ENSP00000260191	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000260191	Transcript	.	.	ENSG00000149305	5298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT3B_HUMAN	HTR3B	HGNC	B3VRP0_HUMAN,B3VRN0_HUMAN,B3VRM0_HUMAN,B3VRL5_HUMAN,B3VRL0_HUMAN,B3VRK5_HUMAN	.	UPI0000073DA3	SNV	HTR3B,synonymous_variant,p.%3D,ENST00000260191,;HTR3B,upstream_gene_variant,,ENST00000537778,;	282	68	54	SUCCESS
KMT2A	4297	.	GRCh37	11	118307250	118307250	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	31	0	ENST00000534358.1:c.23del	p.Arg8ProfsTer20	p.R8Pfs*20	ENST00000534358	NM_005933.3	8	cGc/cc	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS55791.1	23	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGCGCTTCC	NONE	.	.	PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	deletion	KMT2A,frameshift_variant,p.Arg8ProfsTer20,ENST00000354520,;KMT2A,frameshift_variant,p.Arg8ProfsTer20,ENST00000534358,;KMT2A,frameshift_variant,p.Arg8ProfsTer20,ENST00000531904,;KMT2A,frameshift_variant,p.Arg8ProfsTer20,ENST00000389506,;KMT2A,upstream_gene_variant,,ENST00000532204,;RP11-770J1.4,upstream_gene_variant,,ENST00000532619,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000533790,;KMT2A,upstream_gene_variant,,ENST00000529852,;	46	31	32	SUCCESS
ABCG4	64137	.	GRCh37	11	119020858	119020858	+	synonymous_variant	Silent	SNP	C	C	T	rs139736013	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	91	0	ENST00000307417.3:c.183C>T	p.Ile61=	p.I61=	ENST00000307417	NM_022169.4	61	atC/atT	0	T:0	T:0	.	T:0	.	T	I	protein_coding	YES	CCDS8415.1	183	MUTECT|MUSE	.	GACATCGAGTT	NONE	byFrequency|byCluster|by1000G	.	Gene3D:3.40.50.300,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211,PROSITE_profiles:PS50893	T:0	T:0.0009	ENSP00000304111	T:0.002	2/15	.	.	.	.	.	.	.	.	rs139736013	2/15	common_in_exac	ENST00000307417	Transcript	.	T:0.0010	ENSG00000172350	13884	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.0031	.	.	ABCG4_HUMAN	ABCG4	HGNC	Q9NT30_HUMAN,E9PJ00_HUMAN	.	UPI000000D999	SNV	ABCG4,synonymous_variant,p.%3D,ENST00000524604,;ABCG4,synonymous_variant,p.%3D,ENST00000307417,;ABCG4,synonymous_variant,p.%3D,ENST00000449422,;ABCG4,synonymous_variant,p.%3D,ENST00000531739,;ABCG4,upstream_gene_variant,,ENST00000533694,;	547	91	76	SUCCESS
THY1	7070	.	GRCh37	11	119290822	119290822	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	90	0	ENST00000284240.5:c.312T>C	p.Cys104=	p.C104=	ENST00000284240	NM_006288.3	104	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS8424.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCACACGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR19226,hmmpanther:PTHR19226:SF2,PROSITE_profiles:PS50835	.	.	ENSP00000284240	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000284240	Transcript	.	.	ENSG00000154096	11801	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THY1_HUMAN	THY1	HGNC	E9PIM6_HUMAN,B0YJA4_HUMAN	.	UPI0000136F1F	SNV	THY1,synonymous_variant,p.%3D,ENST00000524659,;THY1,synonymous_variant,p.%3D,ENST00000524970,;THY1,synonymous_variant,p.%3D,ENST00000528522,;THY1,synonymous_variant,p.%3D,ENST00000284240,;THY1,synonymous_variant,p.%3D,ENST00000580275,;USP2-AS1,intron_variant,,ENST00000500970,;USP2-AS1,intron_variant,,ENST00000578923,;USP2-AS1,intron_variant,,ENST00000498979,;USP2-AS1,intron_variant,,ENST00000530002,;RP11-334E6.12,downstream_gene_variant,,ENST00000578216,;THY1,non_coding_transcript_exon_variant,,ENST00000527590,;THY1,3_prime_UTR_variant,,ENST00000528295,;THY1,non_coding_transcript_exon_variant,,ENST00000532974,;THY1,non_coding_transcript_exon_variant,,ENST00000584021,;THY1,downstream_gene_variant,,ENST00000533840,;	1352	90	67	SUCCESS
NAT10	55226	.	GRCh37	11	34135326	34135326	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	33	136	0	ENST00000257829.3:c.436del	p.Leu146Ter	p.L146*	ENST00000257829	NM_024662.2	146	Cta/ta	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS7889.1	436	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGGGCTAGTG	NONE	.	.	Pfam_domain:PF08351,hmmpanther:PTHR10925,Low_complexity_(Seg):seg	.	.	ENSP00000257829	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000257829	Transcript	.	.	ENSG00000135372	29830	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAT10_HUMAN	NAT10	HGNC	E9PJN6_HUMAN,E7ESU4_HUMAN	.	UPI000013CF8E	deletion	NAT10,frameshift_variant,p.Leu74Ter,ENST00000531159,;NAT10,frameshift_variant,p.Leu146Ter,ENST00000527971,;NAT10,frameshift_variant,p.Leu146Ter,ENST00000257829,;NAT10,incomplete_terminal_codon_variant,p.%3D,ENST00000529523,;NAT10,downstream_gene_variant,,ENST00000531723,;	642	136	157	SUCCESS
OR5L1	219437	.	GRCh37	11	55579074	55579074	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	57	0	ENST00000333973.2:c.132C>A	p.Gly44=	p.G44=	ENST00000333973	NM_001004738.1	44	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31509.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCATGAT	BUFFER|p.M45I|c.135G>A|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,synonymous_variant,p.%3D,ENST00000333973,;	221	57	72	SUCCESS
LTBP3	4054	.	GRCh37	11	65314273	65314273	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	14	0	ENST00000301873.5:c.2226T>G	p.Cys742Trp	p.C742W	ENST00000301873	NM_001130144.2	742	tgT/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS44647.1	2226	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCGCGACAGGC	NONE	.	.	hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000301873	.	15/28	.	.	.	.	.	.	.	.	COSM1660229	15/28	PASS	ENST00000301873	Transcript	.	.	ENSG00000168056	6716	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.907)	.	deleterious(0)	1	LTBP3_HUMAN	LTBP3	HGNC	Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN	.	UPI00003667EB	SNV	LTBP3,missense_variant,p.Cys82Trp,ENST00000527339,;LTBP3,missense_variant,p.Cys742Trp,ENST00000301873,;LTBP3,missense_variant,p.Cys653Trp,ENST00000530866,;LTBP3,missense_variant,p.Cys742Trp,ENST00000322147,;LTBP3,missense_variant,p.Cys368Trp,ENST00000536982,;LTBP3,missense_variant,p.Cys393Trp,ENST00000526927,;LTBP3,missense_variant,p.Cys172Trp,ENST00000532932,;LTBP3,upstream_gene_variant,,ENST00000530785,;LTBP3,upstream_gene_variant,,ENST00000529189,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,downstream_gene_variant,,ENST00000527792,;LTBP3,upstream_gene_variant,,ENST00000530990,;LTBP3,upstream_gene_variant,,ENST00000525443,;LTBP3,downstream_gene_variant,,ENST00000528966,;LTBP3,downstream_gene_variant,,ENST00000529764,;LTBP3,upstream_gene_variant,,ENST00000529582,;	2495	14	15	SUCCESS
MVK	4598	.	GRCh37	12	110019312	110019312	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200457031	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	22	114	0	ENST00000228510.3:c.484G>A	p.Glu162Lys	p.E162K	ENST00000228510	NM_001114185.1	162	Gag/Aag	0	.	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS9132.1	484	RADIA|MUTECT|MUSE	.	TGTGCGAGGAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10457:SF4,hmmpanther:PTHR10457,Pfam_domain:PF00288,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF54211	A:0	.	ENSP00000228510	A:0	5/11	.	.	.	.	.	.	.	.	rs200457031	5/11	PASS	ENST00000228510	Transcript	.	A:0.0000	ENSG00000110921	7530	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	A:0	tolerated(0.25)	.	KIME_HUMAN	MVK	HGNC	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN	.	UPI000012DE5B	SNV	MVK,missense_variant,p.Glu162Lys,ENST00000546277,;MVK,missense_variant,p.Glu162Lys,ENST00000539335,;MVK,missense_variant,p.Glu162Lys,ENST00000228510,;MVK,intron_variant,,ENST00000539696,;MVK,intron_variant,,ENST00000392727,;MVK,intron_variant,,ENST00000539575,;MVK,intron_variant,,ENST00000541384,;MVK,intron_variant,,ENST00000535044,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,non_coding_transcript_exon_variant,,ENST00000545516,;MVK,intron_variant,,ENST00000545774,;MVK,intron_variant,,ENST00000447878,;	560	114	118	SUCCESS
TMEM132B	114795	.	GRCh37	12	125834194	125834194	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	117	0	ENST00000299308.3:c.249T>C	p.Ile83=	p.I83=	ENST00000299308	NM_052907.2	83	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS41859.1	249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTATTATCAA	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	2/9	.	.	.	.	.	.	.	.	COSM467991	2/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,synonymous_variant,p.%3D,ENST00000299308,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535330,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	257	117	116	SUCCESS
ARNTL2	56938	.	GRCh37	12	27521282	27521282	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	505	115	0	ENST00000266503.5:c.119C>G	p.Ser40Cys	p.S40C	ENST00000266503		40	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS8712.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTCTTTCA	NONE	.	.	hmmpanther:PTHR23042:SF48,hmmpanther:PTHR23042	.	.	ENSP00000266503	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000266503	Transcript	.	.	ENSG00000029153	18984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious(0.03)	.	BMAL2_HUMAN	ARNTL2	HGNC	.	.	UPI0000073439	SNV	ARNTL2,missense_variant,p.Ser3Cys,ENST00000542388,;ARNTL2,missense_variant,p.Ser51Cys,ENST00000395901,;ARNTL2,missense_variant,p.Ser40Cys,ENST00000311001,;ARNTL2,missense_variant,p.Ser19Cys,ENST00000457040,;ARNTL2,missense_variant,p.Ser40Cys,ENST00000266503,;ARNTL2,missense_variant,p.Ser40Cys,ENST00000544915,;ARNTL2,missense_variant,p.Ser51Cys,ENST00000546179,;ARNTL2,missense_variant,p.Ser40Cys,ENST00000261178,;ARNTL2,non_coding_transcript_exon_variant,,ENST00000539558,;	137	115	610	SUCCESS
SMCO2	341346	.	GRCh37	12	27648715	27648715	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	310	61	0	ENST00000416383.1:c.760G>C	p.Glu254Gln	p.E254Q	ENST00000416383	NM_001145010.1	254	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS44852.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAGAGATG	NONE	.	.	Pfam_domain:PF14992,hmmpanther:PTHR22422,hmmpanther:PTHR22422:SF5	.	.	ENSP00000387617	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000416383	Transcript	.	.	ENSG00000165935	34448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.17)	.	SMCO2_HUMAN	SMCO2	HGNC	.	.	UPI000166275D	SNV	SMCO2,missense_variant,p.Glu204Gln,ENST00000298876,;SMCO2,missense_variant,p.Glu254Gln,ENST00000535986,;SMCO2,missense_variant,p.Glu254Gln,ENST00000416383,;SMCO2,non_coding_transcript_exon_variant,,ENST00000538647,;SMCO2,non_coding_transcript_exon_variant,,ENST00000541168,;RP13-200J3.2,upstream_gene_variant,,ENST00000542842,;	936	61	368	SUCCESS
KIAA1551	0	.	GRCh37	12	32138704	32138704	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	992	307	1	ENST00000312561.4:c.4815G>A	p.Arg1605=	p.R1605=	ENST00000312561	NM_018169.3	1605	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8725.2	4815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGAAGCT	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,synonymous_variant,p.%3D,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	5229	308	1317	SUCCESS
ACSS3	79611	.	GRCh37	12	81503455	81503455	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1327521115	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	104	199	1	ENST00000548058.1:c.428C>T	p.Thr143Ile	p.T143I	ENST00000548058		143	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS9022.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAACCTTTA	NONE	.	.	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF0,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000449535	.	2/16	.	.	.	.	.	.	.	.	COSM1705983	2/16	PASS	ENST00000548058	Transcript	.	.	ENSG00000111058	24723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.21)	1	ACSS3_HUMAN	ACSS3	HGNC	F8VZB4_HUMAN	.	UPI000007060A	SNV	ACSS3,missense_variant,p.Thr35Ile,ENST00000549175,;ACSS3,missense_variant,p.Thr142Ile,ENST00000261206,;ACSS3,missense_variant,p.Thr143Ile,ENST00000548058,;RP11-543H12.1,intron_variant,,ENST00000547123,;	1338	200	285	SUCCESS
SLC6A15	55117	.	GRCh37	12	85285776	85285776	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	93	0	ENST00000266682.5:c.124G>A	p.Asp42Asn	p.D42N	ENST00000266682	NM_182767.5	42	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9026.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCAACAA	NONE	.	.	hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101	.	.	ENSP00000266682	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.48)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Asp42Asn,ENST00000549540,;SLC6A15,missense_variant,p.Asp42Asn,ENST00000450363,;SLC6A15,missense_variant,p.Asp42Asn,ENST00000266682,;SLC6A15,intron_variant,,ENST00000552192,;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,downstream_gene_variant,,ENST00000551010,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,intron_variant,,ENST00000547240,;	666	93	110	SUCCESS
SOX1	6656	.	GRCh37	13	112722447	112722447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1307824177	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	27	0	ENST00000330949.1:c.475G>A	p.Val159Met	p.V159M	ENST00000330949	NM_005986.2	159	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS9523.1	475	MUTECT|MUSE	.	TGGGCGTGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF40,Pfam_domain:PF12336	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330949	Transcript	.	.	ENSG00000182968	11189	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.049)	.	tolerated(0.12)	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,missense_variant,p.Val159Met,ENST00000330949,;	535	27	16	SUCCESS
FREM2	341640	.	GRCh37	13	39263249	39263257	+	inframe_deletion	In_Frame_Del	DEL	GATTCAGAT	GATTCAGAT	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	GATTCAGAT	GATTCAGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	44	0	ENST00000280481.7:c.1773_1781del	p.Asp592_Ser594del	p.D592_S594del	ENST00000280481	NM_207361.4	590	GATTCAGAT/-	0	.	.	.	.	.	-	DSD/-	protein_coding	YES	CCDS31960.1	1768-1776	INDELOCATOR*|VARSCANI*|PINDEL	.	GACATGGATTCAGATGATTC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	deletion	FREM2,inframe_deletion,p.Asp592_Ser594del,ENST00000280481,;	1984-1992	44	47	SUCCESS
LINC00238	0	.	GRCh37	14	66965214	66965214	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	74	1	ENST00000411796.2:n.1076G>A		p.*359*	ENST00000411796				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GCTTTGGACAG	NONE	.	.	.	.	.	.	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000411796	Transcript	.	.	ENSG00000196553	20100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	LINC00238	HGNC	.	.	.	SNV	LINC00238,non_coding_transcript_exon_variant,,ENST00000432289,;LINC00238,non_coding_transcript_exon_variant,,ENST00000389594,;LINC00238,non_coding_transcript_exon_variant,,ENST00000359454,;LINC00238,non_coding_transcript_exon_variant,,ENST00000411796,;RP11-72M17.1,intron_variant,,ENST00000556874,;RP11-72M17.1,upstream_gene_variant,,ENST00000556361,;RP11-72M17.1,upstream_gene_variant,,ENST00000555377,;LINC00238,downstream_gene_variant,,ENST00000450299,;LINC00238,non_coding_transcript_exon_variant,,ENST00000436570,;	1076	75	63	SUCCESS
BCL11B	64919	.	GRCh37	14	99641663	99641663	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	26	0	ENST00000357195.3:c.1510G>T	p.Glu504Ter	p.E504*	ENST00000357195	NM_138576.2	504	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS9950.1	1510	RADIA|MUTECT|MUSE	.	CAGCTCGCTGG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,stop_gained,p.Glu310Ter,ENST00000443726,;BCL11B,stop_gained,p.Glu433Ter,ENST00000345514,;BCL11B,stop_gained,p.Glu504Ter,ENST00000357195,;	1520	26	17	SUCCESS
HERC2	8924	.	GRCh37	15	28538147	28538147	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	11	152	0	ENST00000261609.7:c.209G>T	p.Gly70Val	p.G70V	ENST00000261609	NM_004667.5	70	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10021.1	209	MUTECT|MUSE	.	TTGTTCCACTT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	.	.	ENSP00000261609	.	4/93	.	.	.	.	.	.	.	.	.	4/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Gly70Val,ENST00000261609,;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,non_coding_transcript_exon_variant,,ENST00000564383,;	318	152	143	SUCCESS
FES	2242	.	GRCh37	15	91430578	91430578	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755326118	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	88	0	ENST00000328850.3:c.646C>T	p.His216Tyr	p.H216Y	ENST00000328850	NM_002005.3	216	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS10365.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCACGAG	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF197,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF103657	.	.	ENSP00000331504	.	5/19	.	.	.	.	.	.	.	.	rs755326118	5/19	PASS	ENST00000328850	Transcript	.	.	ENSG00000182511	3657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0)	.	FES_HUMAN	FES	HGNC	Q4JFK7_HUMAN,H0YNN8_HUMAN,E9PGC7_HUMAN,E7EMJ7_HUMAN,C9J3W6_HUMAN	.	UPI0000001C30	SNV	FES,missense_variant,p.His158Tyr,ENST00000450438,;FES,missense_variant,p.His158Tyr,ENST00000394300,;FES,missense_variant,p.His158Tyr,ENST00000414248,;FES,missense_variant,p.His158Tyr,ENST00000394302,;FES,missense_variant,p.His216Tyr,ENST00000328850,;FES,missense_variant,p.His216Tyr,ENST00000444422,;FES,downstream_gene_variant,,ENST00000443697,;FES,downstream_gene_variant,,ENST00000559355,;FURIN,downstream_gene_variant,,ENST00000268171,;FES,downstream_gene_variant,,ENST00000416779,;FES,downstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000448367,;FES,missense_variant,p.His216Tyr,ENST00000464684,;FES,3_prime_UTR_variant,,ENST00000470152,;FES,non_coding_transcript_exon_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000494259,;FES,upstream_gene_variant,,ENST00000462476,;FES,downstream_gene_variant,,ENST00000481665,;FES,upstream_gene_variant,,ENST00000496379,;	788	88	54	SUCCESS
ABCC1	4363	.	GRCh37	16	16138351	16138351	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199675371	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	25	127	0	ENST00000399410.3:c.854C>A	p.Pro285Gln	p.P285Q	ENST00000399410	NM_004996.3	285	cCg/cAg	0	T:0.0037	T:0.003	.	T:0	.	A	P/Q	protein_coding	YES	CCDS42122.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCGAAAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957	T:0	T:0	ENSP00000382342	T:0	8/31	.	.	.	.	.	.	.	.	rs199675371,COSM3506388,COSM3506387	8/31	PASS	ENST00000399410	Transcript	.	T:0.0008	ENSG00000103222	51	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.017)	T:0	tolerated(0.59)	0,1,1	MRP1_HUMAN	ABCC1	HGNC	Q9BV39_HUMAN	.	UPI00001FEEFC	SNV	ABCC1,missense_variant,p.Pro285Gln,ENST00000399408,;ABCC1,missense_variant,p.Pro285Gln,ENST00000351154,;ABCC1,missense_variant,p.Pro285Gln,ENST00000399410,;ABCC1,missense_variant,p.Pro285Gln,ENST00000349029,;ABCC1,missense_variant,p.Pro285Gln,ENST00000346370,;ABCC1,missense_variant,p.Pro285Gln,ENST00000345148,;ABCC1,missense_variant,p.Pro184Gln,ENST00000572882,;ABCC1,non_coding_transcript_exon_variant,,ENST00000574224,;	1029	127	134	SUCCESS
TRAF7	84231	.	GRCh37	16	2215890	2215890	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	62	0	ENST00000326181.6:c.92A>C	p.Glu31Ala	p.E31A	ENST00000326181	NM_032271.2	31	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS10461.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGAAACGA	NONE	.	.	.	.	.	ENSP00000318944	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000326181	Transcript	.	.	ENSG00000131653	20456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.366)	.	deleterious_low_confidence(0)	.	TRAF7_HUMAN	TRAF7	HGNC	H3BR17_HUMAN,D3DU86_HUMAN	.	UPI000014186F	SNV	TRAF7,missense_variant,p.Glu31Ala,ENST00000326181,;TRAF7,missense_variant,p.Glu31Ala,ENST00000567645,;TRAF7,synonymous_variant,p.%3D,ENST00000564067,;TRAF7,non_coding_transcript_exon_variant,,ENST00000567653,;TRAF7,non_coding_transcript_exon_variant,,ENST00000565383,;TRAF7,non_coding_transcript_exon_variant,,ENST00000569686,;	224	62	38	SUCCESS
NLRC3	197358	.	GRCh37	16	3613511	3613511	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	88	0	ENST00000359128.5:c.1427T>A	p.Phe476Tyr	p.F476Y	ENST00000359128		476	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	.	1568	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGAAGATG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF16	.	.	ENSP00000414415	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000448023	Transcript	.	.	ENSG00000167984	29889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	.	NLRC3	HGNC	C9JLH9_HUMAN	.	UPI0000246E58	SNV	NLRC3,missense_variant,p.Phe476Tyr,ENST00000301749,;NLRC3,missense_variant,p.Phe458Tyr,ENST00000324659,;NLRC3,missense_variant,p.Phe476Tyr,ENST00000359128,;NLRC3,missense_variant,p.Phe523Tyr,ENST00000448023,;NLRC3,non_coding_transcript_exon_variant,,ENST00000603128,;NLRC3,non_coding_transcript_exon_variant,,ENST00000419350,;NLRC3,downstream_gene_variant,,ENST00000603055,;NLRC3,missense_variant,p.Phe523Tyr,ENST00000603507,;	1755	88	75	SUCCESS
SLX4	84464	.	GRCh37	16	3641076	3641076	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	67	0	ENST00000294008.3:c.2563T>G	p.Tyr855Asp	p.Y855D	ENST00000294008	NM_032444.2	855	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS10506.2	2563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATAAATTT	NONE	.	.	hmmpanther:PTHR21541	.	.	ENSP00000294008	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000294008	Transcript	.	.	ENSG00000188827	23845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SLX4_HUMAN	SLX4	HGNC	.	.	UPI000050D2C5	SNV	SLX4,missense_variant,p.Tyr855Asp,ENST00000294008,;SLX4,downstream_gene_variant,,ENST00000466154,;	3204	67	54	SUCCESS
CBLN1	869	.	GRCh37	16	49315146	49315146	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	79	0	ENST00000219197.6:c.231G>C	p.Met77Ile	p.M77I	ENST00000219197	NM_004352.3	77	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS10736.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCATCTC	BUFFER|p.R80H|c.239G>A|3	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000219197	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000219197	Transcript	.	.	ENSG00000102924	1543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	tolerated(0.05)	.	CBLN1_HUMAN	CBLN1	HGNC	.	.	UPI0000127506	SNV	CBLN1,missense_variant,p.Met77Ile,ENST00000536749,;CBLN1,missense_variant,p.Met77Ile,ENST00000219197,;CBLN1,missense_variant,p.Met77Ile,ENST00000564786,;	597	79	71	SUCCESS
SMPD3	55512	.	GRCh37	16	68405459	68405459	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	12	0	ENST00000219334.5:c.626C>T	p.Ser209Phe	p.S209F	ENST00000219334	NM_018667.3	209	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS10867.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGAGGCT	NONE	.	.	hmmpanther:PTHR16320:SF5,hmmpanther:PTHR16320	.	.	ENSP00000219334	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000219334	Transcript	.	.	ENSG00000103056	14240	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NSMA2_HUMAN	SMPD3	HGNC	H3BTM0_HUMAN,D6Q0F1_HUMAN,C8CHW6_HUMAN	.	UPI0000037769	SNV	SMPD3,missense_variant,p.Ser209Phe,ENST00000563226,;SMPD3,missense_variant,p.Ser209Phe,ENST00000568373,;SMPD3,missense_variant,p.Ser209Phe,ENST00000219334,;SMPD3,downstream_gene_variant,,ENST00000561749,;SMPD3,upstream_gene_variant,,ENST00000574662,;SMPD3,intron_variant,,ENST00000566723,;SMPD3,upstream_gene_variant,,ENST00000566009,;SMPD3,upstream_gene_variant,,ENST00000566466,;SMPD3,upstream_gene_variant,,ENST00000563455,;SMPD3,upstream_gene_variant,,ENST00000567223,;SMPD3,upstream_gene_variant,,ENST00000567811,;	1230	12	22	SUCCESS
AARS	0	.	GRCh37	16	70293021	70293021	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	87	0	ENST00000261772.8:c.1854G>A	p.Val618=	p.V618=	ENST00000261772	NM_001605.2	618	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32474.1	1854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGCACTGA	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344,Superfamily_domains:SSF55186	.	.	ENSP00000261772	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000261772	Transcript	.	.	ENSG00000090861	20	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYAC_HUMAN	AARS	HGNC	.	.	UPI0000169F0B	SNV	AARS,synonymous_variant,p.%3D,ENST00000261772,;AARS,synonymous_variant,p.%3D,ENST00000565361,;AARS,non_coding_transcript_exon_variant,,ENST00000569790,;AARS,non_coding_transcript_exon_variant,,ENST00000564359,;AARS,non_coding_transcript_exon_variant,,ENST00000567490,;AARS,upstream_gene_variant,,ENST00000569825,;AARS,downstream_gene_variant,,ENST00000566969,;	1998	87	61	SUCCESS
GAN	8139	.	GRCh37	16	81385202	81385202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	58	0	ENST00000568107.2:c.182A>G	p.Tyr61Cys	p.Y61C	ENST00000568107	NM_022041.3	61	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10935.1	182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTATAATC	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF167,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000476795	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000568107	Transcript	.	.	ENSG00000261609	4137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	GAN_HUMAN	GAN	HGNC	.	.	UPI000000DAB6	SNV	GAN,missense_variant,p.Tyr61Cys,ENST00000568107,;	344	58	54	SUCCESS
RPL13	6137	.	GRCh37	16	89628070	89628070	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	37	195	0	ENST00000311528.5:c.331C>T	p.Gln111Ter	p.Q111*	ENST00000311528	NM_001243130.1	111	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10979.1	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCAGGCC	NONE	.	.	hmmpanther:PTHR11722,hmmpanther:PTHR11722:SF0,Pfam_domain:PF01294	.	.	ENSP00000376811	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000393099	Transcript	.	.	ENSG00000167526	10303	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL13_HUMAN	RPL13	HGNC	O60250_HUMAN,J3QSB4_HUMAN,H3BUK8_HUMAN,A8K4C8_HUMAN	.	UPI0000001228	SNV	RPL13,stop_gained,p.Gln111Ter,ENST00000567815,;RPL13,stop_gained,p.Gln111Ter,ENST00000393099,;RPL13,stop_gained,p.Gln111Ter,ENST00000467736,;RPL13,stop_gained,p.Gln111Ter,ENST00000311528,;RPL13,5_prime_UTR_variant,,ENST00000563270,;RPL13,intron_variant,,ENST00000452368,;SPG7,downstream_gene_variant,,ENST00000268704,;RPL13,upstream_gene_variant,,ENST00000472354,;SNORD68,downstream_gene_variant,,ENST00000363214,;SPG7,downstream_gene_variant,,ENST00000565891,;RPL13,synonymous_variant,p.%3D,ENST00000562879,;RPL13,non_coding_transcript_exon_variant,,ENST00000484610,;RPL13,non_coding_transcript_exon_variant,,ENST00000563749,;RPL13,non_coding_transcript_exon_variant,,ENST00000491523,;RPL13,non_coding_transcript_exon_variant,,ENST00000399461,;RPL13,non_coding_transcript_exon_variant,,ENST00000565571,;RPL13,upstream_gene_variant,,ENST00000570149,;SPG7,downstream_gene_variant,,ENST00000569820,;RPL13,downstream_gene_variant,,ENST00000487034,;SPG7,downstream_gene_variant,,ENST00000569720,;SPG7,downstream_gene_variant,,ENST00000561702,;SPG7,downstream_gene_variant,,ENST00000561911,;	580	195	147	SUCCESS
TUBB8P7	197331	.	GRCh37	16	90162267	90162267	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	rs769636904	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	67	0	ENST00000564451.1:n.1620A>T		p.*540*	ENST00000564451				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAAGATAA	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	rs769636904	3/3	PASS	ENST00000564451	Transcript	.	.	ENSG00000261812	42345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TUBB8P7	HGNC	.	.	.	SNV	TUBB8P7,non_coding_transcript_exon_variant,,ENST00000564451,;TUBB8P7,non_coding_transcript_exon_variant,,ENST00000563927,;TUBB8P7,non_coding_transcript_exon_variant,,ENST00000567207,;PRDM7,upstream_gene_variant,,ENST00000569206,;TUBB8P7,stop_gained,p.Arg335Ter,ENST00000567960,;	1620	67	68	SUCCESS
SLFN12L	100506736	.	GRCh37	17	33802437	33802437	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	83	0	ENST00000260908.7:c.1272A>G	p.Gly424=	p.G424=	ENST00000260908	NM_001195790.1	424	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS56026.1	1272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGTCCTTC	NONE	.	.	hmmpanther:PTHR12155:SF23,hmmpanther:PTHR12155	.	.	ENSP00000437635	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000260908	Transcript	.	.	ENSG00000205045	33920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLFN12L	HGNC	F5H6G3_HUMAN	.	UPI0001E556C0	SNV	SLFN12L,synonymous_variant,p.%3D,ENST00000361112,;SLFN12L,synonymous_variant,p.%3D,ENST00000449046,;SLFN12L,synonymous_variant,p.%3D,ENST00000260908,;RP11-686D22.9,upstream_gene_variant,,ENST00000587076,;SLFN12L,intron_variant,,ENST00000590802,;SLFN12L,intron_variant,,ENST00000587436,;RP11-686D22.10,upstream_gene_variant,,ENST00000592517,;	1390	83	53	SUCCESS
GPR179	440435	.	GRCh37	17	36482914	36482914	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	58	0	ENST00000342292.4:c.6538G>A	p.Glu2180Lys	p.E2180K	ENST00000342292	NM_001004334.2	2180	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS42308.1	6538	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCCTGCT	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	deleterious(0.01)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Glu2180Lys,ENST00000342292,;MRPL45,downstream_gene_variant,,ENST00000312513,;GPR179,intron_variant,,ENST00000584976,;MRPL45,downstream_gene_variant,,ENST00000579911,;	6559	58	35	SUCCESS
DLX4	1748	.	GRCh37	17	48046769	48046769	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	12	0	ENST00000240306.3:c.-64A>T		p.*22*	ENST00000240306	NM_138281.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11555.1	.	MUTECT|MUSE	.	AAAAGAGAGTT	NONE	.	.	.	.	.	ENSP00000240306	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000240306	Transcript	.	.	ENSG00000108813	2917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLX4_HUMAN	DLX4	HGNC	.	.	UPI0000070F94	SNV	DLX4,5_prime_UTR_variant,,ENST00000240306,;DLX4,5_prime_UTR_variant,,ENST00000505318,;DLX4,upstream_gene_variant,,ENST00000411890,;RNU6-1313P,upstream_gene_variant,,ENST00000362622,;DLX4,intron_variant,,ENST00000503410,;DLX4,upstream_gene_variant,,ENST00000503276,;	232	12	9	SUCCESS
TP53	7157	.	GRCh37	17	7578463	7578463	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs371524413	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	26	128	0	ENST00000269305.4:c.467G>C	p.Arg156Pro	p.R156P	ENST00000269305	NM_001126112.2	156	cGc/cCc	0	T:0,T:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS11118.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCGGGTG	SITE|p.R156P|c.467G>C|26,SITE|p.R63P|c.188G>C|4,SITE|p.R156P|c.467G>C|4,SITE|p.R156P|c.467G>C|4,SITE|p.R24P|c.71G>C|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.V157fs*13|c.468delC|3,CODON|p.R156H|c.467G>A|11,CODON|p.R156L|c.467G>T|3,CODON|p.P152fs*14|c.454_466del13|5,CODON|p.R156fs*14|c.466delC|9,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.R158fs*11|c.472_475delCGCG|3,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158_A159insX|c.473_474insNNN|4,BUFFER|p.R158R|c.474C>T|6,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|24,BUFFER|p.R158H|c.473G>A|78,BUFFER|p.R158H|c.473G>A|7,BUFFER|p.R158L|c.473G>T|63,BUFFER|p.R158H|c.473G>A|11,BUFFER|p.R158P|c.473G>C|10,BUFFER|p.R158L|c.473G>T|5,BUFFER|p.R158L|c.473G>T|14,BUFFER|p.R65H|c.194G>A|24,BUFFER|p.R26L|c.77G>T|19,BUFFER|p.R26H|c.77G>A|25,BUFFER|p.R65L|c.194G>T|14,BUFFER|p.R158C|c.471_472CC>TT|6,BUFFER|p.R158fs*12|c.472delC|6,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157V|c.471C>A|3,BUFFER|p.V157G|c.470T>G|9,BUFFER|p.V157D|c.470T>A|8,BUFFER|p.V157F|c.469G>T|7,BUFFER|p.V157F|c.469G>T|8,BUFFER|p.V157L|c.469G>C|6,BUFFER|p.V157F|c.469G>T|22,BUFFER|p.V157F|c.469G>T|162,BUFFER|p.V157I|c.469G>A|10,BUFFER|p.V157F|c.469G>T|22,BUFFER|p.V25F|c.73G>T|25,BUFFER|p.V64F|c.190G>T|22,BUFFER|p.R156S|c.466C>A|3,BUFFER|p.R156G|c.466C>G|3,BUFFER|p.R156C|c.466C>T|4,BUFFER|p.T155T|c.465C>T|4,BUFFER|p.T155N|c.464C>A|4,BUFFER|p.T155N|c.464C>A|5,BUFFER|p.T62N|c.185C>A|6,BUFFER|p.T155N|c.464C>A|25,BUFFER|p.T155I|c.464C>T|15,BUFFER|p.T23N|c.68C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G154V|c.461G>T|3,BUFFER|p.G61V|c.182G>T|3,BUFFER|p.G22V|c.65G>T|4,BUFFER|p.G154D|c.461G>A|6,BUFFER|p.G154V|c.461G>T|38,BUFFER|p.T150fs*16|c.448_460del13|4,BUFFER|p.G154S|c.460G>A|9,BUFFER|p.P153P|c.459C>T|6,BUFFER|p.P153L|c.458C>T|6,BUFFER|p.P153T|c.457C>A|3,BUFFER|p.P153S|c.457C>T|8,BUFFER|p.P153fs*28|c.456_457insN|4,BUFFER|p.P153fs*28|c.455_456insN|3,BUFFER|p.P152fs*18|c.455delC|6,BUFFER|p.P152P|c.456G>A|4	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	T:0.0001,T:0.0001	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs371524413,CM984589,TP53_g.12455G>A,TP53_g.12455del,TP53_g.12455G>C,TP53_g.12455G>T,COSM43548,COSM10760,COSM43739,COSM45530,COSM1522489,COSM3970367,COSM1522490,COSM3970370,COSM3970372,COSM1522492,COSM3712457,COSM3970369,COSM2744905,COSM3970368,COSM1522491,COSM3970371	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.994)	.	tolerated(0.22)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg156Pro,ENST00000508793,;TP53,missense_variant,p.Arg156Pro,ENST00000413465,;TP53,missense_variant,p.Arg156Pro,ENST00000420246,;TP53,missense_variant,p.Arg156Pro,ENST00000269305,;TP53,missense_variant,p.Arg24Pro,ENST00000509690,;TP53,missense_variant,p.Arg156Pro,ENST00000359597,;TP53,missense_variant,p.Arg63Pro,ENST00000514944,;TP53,missense_variant,p.Arg156Pro,ENST00000445888,;TP53,missense_variant,p.Arg156Pro,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	657	128	75	SUCCESS
ZNF626	199777	.	GRCh37	19	20844364	20844364	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	19	0	ENST00000601440.1:c.-112G>T		p.*38*	ENST00000601440	NM_001076675.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42535.1	.	MUTECT|MUSE	.	TCTGACTGCAG	NONE	.	.	.	.	.	ENSP00000469958	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000601440	Transcript	.	.	ENSG00000188171	30461	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN626_HUMAN	ZNF626	HGNC	M0QY39_HUMAN,I0CMK8_HUMAN	.	UPI000035E843	SNV	ZNF626,5_prime_UTR_variant,,ENST00000601440,;ZNF626,5_prime_UTR_variant,,ENST00000291750,;ZNF626,upstream_gene_variant,,ENST00000595405,;CTC-513N18.7,non_coding_transcript_exon_variant,,ENST00000595094,;	36	19	16	SUCCESS
ZNF728	388523	.	GRCh37	19	23159372	23159372	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs565868137	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	27	0	ENST00000594710.1:c.767A>G	p.Tyr256Cys	p.Y256C	ENST00000594710	NM_001267716.1	256	tAc/tGc	0	.	C:0	.	C:0.0014	.	C	Y/C	protein_coding	YES	CCDS59370.1	767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTAATGT	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF153,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	C:0	.	ENSP00000471593	C:0	4/4	.	.	.	.	.	.	.	.	rs565868137	4/4	PASS	ENST00000594710	Transcript	.	C:0.0002	ENSG00000269067	32463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	C:0	deleterious(0.02)	.	ZN728_HUMAN	ZNF728	HGNC	.	.	UPI0002656E4B	SNV	ZNF728,missense_variant,p.Tyr256Cys,ENST00000594710,;ZNF728,downstream_gene_variant,,ENST00000599851,;	913	27	28	SUCCESS
ATP4A	495	.	GRCh37	19	36047937	36047937	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200791532	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	87	0	ENST00000262623.3:c.1747G>A	p.Asp583Asn	p.D583N	ENST00000262623	NM_000704.2	583	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS12467.1	1747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTCGAAGG	NONE	byCluster	.	Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	.	.	ENSP00000262623	.	12/22	.	.	.	.	.	.	.	.	rs200791532,COSM238902	12/22	PASS	ENST00000262623	Transcript	.	.	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.016)	.	tolerated(0.25)	0,1	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Asp583Asn,ENST00000262623,;ATP4A,intron_variant,,ENST00000592767,;ATP4A,intron_variant,,ENST00000592131,;ATP4A,downstream_gene_variant,,ENST00000590916,;	1776	87	80	SUCCESS
IZUMO1	284359	.	GRCh37	19	49244274	49244274	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755650480	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	48	0	ENST00000332955.2:c.944G>A	p.Arg315Gln	p.R315Q	ENST00000332955	NM_182575.2	315	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS12732.1	944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCGACGA	NONE	byFrequency	.	.	.	.	ENSP00000327786	.	10/10	.	.	.	.	.	.	.	.	rs755650480	10/10	PASS	ENST00000332955	Transcript	.	.	ENSG00000182264	28539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	tolerated(0.32)	.	IZUM1_HUMAN	IZUMO1	HGNC	.	.	UPI00001609C7	SNV	IZUMO1,missense_variant,p.Arg315Gln,ENST00000332955,;RASIP1,upstream_gene_variant,,ENST00000599291,;IZUMO1,downstream_gene_variant,,ENST00000602105,;RASIP1,upstream_gene_variant,,ENST00000222145,;RASIP1,upstream_gene_variant,,ENST00000594232,;IZUMO1,3_prime_UTR_variant,,ENST00000595937,;IZUMO1,3_prime_UTR_variant,,ENST00000595517,;IZUMO1,non_coding_transcript_exon_variant,,ENST00000599871,;IZUMO1,downstream_gene_variant,,ENST00000597553,;	1492	48	48	SUCCESS
IGLON5	402665	.	GRCh37	19	51830432	51830432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	62	0	ENST00000270642.8:c.745C>A	p.Gln249Lys	p.Q249K	ENST00000270642	NM_001101372.1	249	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS46158.1	745	MUTECT|MUSE	.	ATTTCCAGTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF9,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000270642	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000270642	Transcript	.	.	ENSG00000142549	34550	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.217)	.	deleterious(0.01)	.	IGLO5_HUMAN	IGLON5	HGNC	.	.	UPI000058F1A8	SNV	IGLON5,missense_variant,p.Gln249Lys,ENST00000270642,;VSIG10L,downstream_gene_variant,,ENST00000335624,;VSIG10L,downstream_gene_variant,,ENST00000600663,;	745	62	53	SUCCESS
KIAA1324	0	.	GRCh37	1	109734359	109734359	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	79	0	ENST00000369939.3:c.1557T>C	p.Ser519=	p.S519=	ENST00000369939	NM_020775.4	519	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS794.1	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTAGGAC	NONE	.	.	hmmpanther:PTHR22727,hmmpanther:PTHR22727:SF13	.	.	ENSP00000358955	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000369939	Transcript	.	.	ENSG00000116299	29618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1324_HUMAN	KIAA1324	HGNC	E9PS21_HUMAN,E9PMS2_HUMAN,E9PLY8_HUMAN,E9PLQ2_HUMAN	.	UPI00002051E0	SNV	KIAA1324,synonymous_variant,p.%3D,ENST00000529753,;KIAA1324,synonymous_variant,p.%3D,ENST00000369939,;KIAA1324,synonymous_variant,p.%3D,ENST00000457623,;KIAA1324,non_coding_transcript_exon_variant,,ENST00000369938,;KIAA1324,3_prime_UTR_variant,,ENST00000527996,;KIAA1324,non_coding_transcript_exon_variant,,ENST00000369936,;KIAA1324,non_coding_transcript_exon_variant,,ENST00000464345,;KIAA1324,downstream_gene_variant,,ENST00000490758,;	1740	79	77	SUCCESS
DEDD	9191	.	GRCh37	1	161094254	161094254	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	65	0	ENST00000368006.3:c.-2G>A		p.*1*	ENST00000368006	NM_032998.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1218.1	.	MUTECT|MUSE	.	CCATGCTGGGG	NONE	.	3397	.	.	.	ENSP00000356988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368009	Transcript	.	.	ENSG00000158793	7828	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NIT1_HUMAN	NIT1	HGNC	.	.	UPI00000715F9	SNV	NIT1,3_prime_UTR_variant,,ENST00000368008,;DEDD,5_prime_UTR_variant,,ENST00000490843,;DEDD,5_prime_UTR_variant,,ENST00000464113,;DEDD,5_prime_UTR_variant,,ENST00000368006,;DEDD,5_prime_UTR_variant,,ENST00000458050,;DEDD,5_prime_UTR_variant,,ENST00000392188,;DEDD,5_prime_UTR_variant,,ENST00000368005,;DEDD,5_prime_UTR_variant,,ENST00000545495,;NIT1,downstream_gene_variant,,ENST00000368009,;NIT1,downstream_gene_variant,,ENST00000392190,;NIT1,downstream_gene_variant,,ENST00000368007,;DEDD,non_coding_transcript_exon_variant,,ENST00000486041,;NIT1,non_coding_transcript_exon_variant,,ENST00000479728,;DEDD,non_coding_transcript_exon_variant,,ENST00000473679,;DEDD,non_coding_transcript_exon_variant,,ENST00000496632,;DEDD,non_coding_transcript_exon_variant,,ENST00000463227,;DEDD,intron_variant,,ENST00000489249,;DEDD,intron_variant,,ENST00000472996,;NIT1,downstream_gene_variant,,ENST00000486962,;NIT1,downstream_gene_variant,,ENST00000461376,;NIT1,downstream_gene_variant,,ENST00000491497,;NIT1,downstream_gene_variant,,ENST00000496768,;NIT1,downstream_gene_variant,,ENST00000477684,;NIT1,downstream_gene_variant,,ENST00000496861,;NIT1,downstream_gene_variant,,ENST00000492411,;NIT1,downstream_gene_variant,,ENST00000485594,;NIT1,downstream_gene_variant,,ENST00000479266,;	.	65	56	SUCCESS
RFWD2	0	.	GRCh37	1	175957534	175957534	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	110	0	ENST00000367669.3:c.1862A>T	p.Gln621Leu	p.Q621L	ENST00000367669	NM_022457.5	621	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS30944.1	1862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCTGACTG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356641	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.574)	.	deleterious(0.03)	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.Gln597Leu,ENST00000308769,;RFWD2,missense_variant,p.Gln456Leu,ENST00000367666,;RFWD2,missense_variant,p.Gln621Leu,ENST00000367669,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2377	110	92	SUCCESS
PKP1	5317	.	GRCh37	1	201252737	201252737	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	40	0	ENST00000263946.3:c.-94G>T		p.*32*	ENST00000263946	NM_000299.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30966.1	.	MUTECT|MUSE	.	AGCGAGAAGAG	NONE	.	.	.	.	.	ENSP00000263946	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000263946	Transcript	.	.	ENSG00000081277	9023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKP1_HUMAN	PKP1	HGNC	B4DRX5_HUMAN	.	UPI0000131B86	SNV	PKP1,5_prime_UTR_variant,,ENST00000263946,;PKP1,5_prime_UTR_variant,,ENST00000367324,;PKP1,upstream_gene_variant,,ENST00000352845,;	158	40	31	SUCCESS
UBXN10	127733	.	GRCh37	1	20517668	20517668	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	63	0	ENST00000375099.3:c.614C>T	p.Ser205Leu	p.S205L	ENST00000375099	NM_152376.3	205	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS205.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATCACCAA	NONE	.	.	PROSITE_profiles:PS50033,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF25,Pfam_domain:PF00789,Gene3D:3.10.20.90,SMART_domains:SM00166,Superfamily_domains:SSF54236	.	.	ENSP00000364240	.	2/2	.	.	.	.	.	.	.	.	COSM3385669	2/2	PASS	ENST00000375099	Transcript	.	.	ENSG00000162543	26354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	UBX10_HUMAN	UBXN10	HGNC	.	.	UPI000000DBEB	SNV	UBXN10,missense_variant,p.Ser205Leu,ENST00000375099,;UBXN10-AS1,upstream_gene_variant,,ENST00000442226,;	698	63	58	SUCCESS
PTPN14	5784	.	GRCh37	1	214557934	214557934	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747732994	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	97	0	ENST00000366956.5:c.1264C>T	p.Arg422Trp	p.R422W	ENST00000366956	NM_005401.4	422	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS1514.1	1264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGCATGA	NONE	.	.	PIRSF_domain:PIRSF000934,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77	.	.	ENSP00000355923	.	13/19	.	.	.	.	.	.	.	.	rs747732994	13/19	PASS	ENST00000366956	Transcript	.	.	ENSG00000152104	9647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	PTN14_HUMAN	PTPN14	HGNC	.	.	UPI000013DCA6	SNV	PTPN14,missense_variant,p.Arg422Trp,ENST00000366956,;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	1459	97	93	SUCCESS
CEP85	64793	.	GRCh37	1	26603246	26603246	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	124	0	ENST00000252992.4:c.2123T>A	p.Ile708Asn	p.I708N	ENST00000252992	NM_022778.3	708	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS277.1	2123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATTCACT	NONE	.	.	hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF3	.	.	ENSP00000252992	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000252992	Transcript	.	.	ENSG00000130695	25309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CEP85_HUMAN	CEP85	HGNC	.	.	UPI0000231C37	SNV	CEP85,missense_variant,p.Ile708Asn,ENST00000252992,;CEP85,missense_variant,p.Ile657Asn,ENST00000451429,;CEP85,missense_variant,p.Ile382Asn,ENST00000453146,;UBXN11,downstream_gene_variant,,ENST00000314675,;SH3BGRL3,upstream_gene_variant,,ENST00000319041,;SH3BGRL3,upstream_gene_variant,,ENST00000270792,;CEP85,non_coding_transcript_exon_variant,,ENST00000469609,;CEP85,non_coding_transcript_exon_variant,,ENST00000491670,;CEP85,downstream_gene_variant,,ENST00000468163,;CEP85,missense_variant,p.Ile708Asn,ENST00000476272,;	2254	124	95	SUCCESS
SEC23B	10483	.	GRCh37	20	18491492	18491492	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	35	192	0	ENST00000262544.2:c.13C>G	p.Leu5Val	p.L5V	ENST00000262544		5	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS13137.1	13	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACCTGGAG	BUFFER|p.A2V|c.5C>T|3	.	.	hmmpanther:PTHR11141:SF3,hmmpanther:PTHR11141	.	.	ENSP00000338844	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000336714	Transcript	1	.	ENSG00000101310	10702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.27)	.	SC23B_HUMAN	SEC23B	HGNC	Q5QPE2_HUMAN,B4DS04_HUMAN	.	UPI0000135455	SNV	SEC23B,missense_variant,p.Leu5Val,ENST00000377475,;SEC23B,missense_variant,p.Leu5Val,ENST00000377465,;SEC23B,missense_variant,p.Leu5Val,ENST00000336714,;SEC23B,missense_variant,p.Leu5Val,ENST00000262544,;SEC23B,missense_variant,p.Leu5Val,ENST00000450074,;SEC23B,non_coding_transcript_exon_variant,,ENST00000474619,;SEC23B,upstream_gene_variant,,ENST00000494645,;	445	192	147	SUCCESS
ADRA1D	146	.	GRCh37	20	4228649	4228649	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	26	127	1	ENST00000379453.4:c.956A>C	p.His319Pro	p.H319P	ENST00000379453	NM_000678.3	319	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS13079.1	956	RADIA|MUSE	.	TGCCGTGCGCC	NONE	.	.	Pfam_domain:PF00001,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,PROSITE_profiles:PS50262	.	.	ENSP00000368766	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.38)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.His319Pro,ENST00000379453,;	1073	128	120	SUCCESS
PLCB1	23236	.	GRCh37	20	8769114	8769114	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	46	159	0	ENST00000338037.6:c.3130G>A	p.Asp1044Asn	p.D1044N	ENST00000338037	NM_015192.3	1044	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS13102.1	3130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGGATGTC	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF08703,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448	.	.	ENSP00000338185	.	28/32	.	.	.	.	.	.	.	.	.	28/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0.03)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Asp1044Asn,ENST00000378641,;PLCB1,missense_variant,p.Asp1044Asn,ENST00000338037,;PLCB1,missense_variant,p.Asp1044Asn,ENST00000378637,;PLCB1,upstream_gene_variant,,ENST00000437439,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Asp785Asn,ENST00000487210,;	3157	159	165	SUCCESS
SIM2	6493	.	GRCh37	21	38081704	38081704	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	11	0	ENST00000290399.6:c.258+154G>A		p.*86*	ENST00000290399	NM_005069.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13646.1	.	MUTECT|MUSE	.	GGGATGGACGC	NONE	.	.	.	.	.	ENSP00000290399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290399	Transcript	.	.	ENSG00000159263	10883	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIM2_HUMAN	SIM2	HGNC	.	.	UPI000013599A	SNV	SIM2,intron_variant,,ENST00000431229,;SIM2,intron_variant,,ENST00000430056,;SIM2,intron_variant,,ENST00000290399,;SIM2,upstream_gene_variant,,ENST00000483178,;SIM2,non_coding_transcript_exon_variant,,ENST00000460783,;SIM2,intron_variant,,ENST00000481185,;	.	11	10	SUCCESS
SCARF2	91179	.	GRCh37	22	20786220	20786220	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	90	0	ENST00000266214.5:c.229A>G	p.Ile77Val	p.I77V	ENST00000266214	NM_153334.4	77	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13779.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATCCCAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,Gene3D:2gy5A03	.	.	ENSP00000266214	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000266214	Transcript	.	.	ENSG00000244486	19869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.26)	.	SREC2_HUMAN	SCARF2	HGNC	.	.	UPI0000135F1C	SNV	SCARF2,missense_variant,p.Ile77Val,ENST00000405555,;SCARF2,missense_variant,p.Ile77Val,ENST00000266214,;KLHL22,intron_variant,,ENST00000429594,;SCARF2,upstream_gene_variant,,ENST00000494535,;	334	90	59	SUCCESS
TTC38	55020	.	GRCh37	22	46681166	46681166	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751908725	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	94	0	ENST00000381031.3:c.824A>G	p.Tyr275Cys	p.Y275C	ENST00000381031	NM_017931.2	275	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS43030.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTACGATA	NONE	.	.	hmmpanther:PTHR16263:SF4,hmmpanther:PTHR16263,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000370419	.	9/14	.	.	.	.	.	.	.	.	rs751908725	9/14	PASS	ENST00000381031	Transcript	.	.	ENSG00000075234	26082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0.01)	.	TTC38_HUMAN	TTC38	HGNC	.	.	UPI0000470C96	SNV	TTC38,missense_variant,p.Tyr217Cys,ENST00000445282,;TTC38,missense_variant,p.Tyr275Cys,ENST00000381031,;TTC38,upstream_gene_variant,,ENST00000451998,;TTC38,downstream_gene_variant,,ENST00000422713,;	900	94	61	SUCCESS
TTN	7273	.	GRCh37	2	179571276	179571276	+	synonymous_variant	Silent	SNP	G	G	A	rs377442695	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	108	0	ENST00000591111.1:c.28374C>T	p.Asn9458=	p.N9458=	ENST00000591111		9458	aaC/aaT	0	A:0	A:0	.	A:0	.	A	N	protein_coding	YES	CCDS59435.1	29325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCGTTAAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	A:0.002	A:0.0001	ENSP00000467141	A:0	102/363	.	.	.	.	.	.	.	.	rs377442695	102/363	PASS	ENST00000589042	Transcript	.	A:0.0004	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	29550	108	102	SUCCESS
MYT1L	23040	.	GRCh37	2	1895870	1895870	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	61	0	ENST00000399161.2:c.2222C>T	p.Thr741Met	p.T741M	ENST00000399161	NM_015025.2	741	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS46222.1	2216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCGTGGAC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Pfam_domain:PF08474	.	.	ENSP00000396103	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Thr741Met,ENST00000399161,;MYT1L,missense_variant,p.Thr739Met,ENST00000428368,;MYT1L,3_prime_UTR_variant,,ENST00000602387,;MYT1L,non_coding_transcript_exon_variant,,ENST00000490585,;MYT1L,upstream_gene_variant,,ENST00000470954,;	2886	61	61	SUCCESS
LTBP1	4052	.	GRCh37	2	33518280	33518280	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	238	87	377	0	ENST00000404816.2:c.3166C>T	p.Leu1056Phe	p.L1056F	ENST00000404816		1056	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33177.2	3166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACCTTGAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000386043	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000404816	Transcript	.	.	ENSG00000049323	6714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.178)	.	tolerated(0.06)	.	LTBP1_HUMAN	LTBP1	HGNC	H7C2H7_HUMAN	.	UPI000173A4A4	SNV	LTBP1,missense_variant,p.Leu730Phe,ENST00000407925,;LTBP1,missense_variant,p.Leu1057Phe,ENST00000354476,;LTBP1,missense_variant,p.Leu730Phe,ENST00000418533,;LTBP1,missense_variant,p.Leu731Phe,ENST00000390003,;LTBP1,missense_variant,p.Leu1056Phe,ENST00000404816,;LTBP1,missense_variant,p.Leu677Phe,ENST00000402934,;LTBP1,missense_variant,p.Leu677Phe,ENST00000404525,;LTBP1,5_prime_UTR_variant,,ENST00000272273,;LTBP1,intron_variant,,ENST00000415140,;LTBP1,non_coding_transcript_exon_variant,,ENST00000498013,;	3519	377	325	SUCCESS
CD200R1L	344807	.	GRCh37	3	112564646	112564646	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	49	0	ENST00000398214.1:c.-75A>G		p.*25*	ENST00000398214	NM_001008784.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43131.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTGAATC	NONE	.	.	.	.	.	ENSP00000381272	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000398214	Transcript	.	.	ENSG00000206531	24665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MO2R2_HUMAN	CD200R1L	HGNC	.	.	UPI000042263C	SNV	CD200R1L,5_prime_UTR_variant,,ENST00000488794,;CD200R1L,5_prime_UTR_variant,,ENST00000448932,;CD200R1L,5_prime_UTR_variant,,ENST00000398214,;CD200R1L,5_prime_UTR_variant,,ENST00000486723,;	152	49	32	SUCCESS
CELSR3	1951	.	GRCh37	3	48699034	48699034	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	73	0	ENST00000164024.4:c.1034T>C	p.Leu345Pro	p.L345P	ENST00000164024	NM_001407.2	345	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2775.1	1034	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTAGCACC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50268	.	.	ENSP00000164024	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.01)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Leu345Pro,ENST00000544264,;CELSR3,missense_variant,p.Leu345Pro,ENST00000164024,;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	1315	73	51	SUCCESS
MTNR1A	4543	.	GRCh37	4	187455203	187455203	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	30	156	0	ENST00000307161.5:c.693A>G	p.Pro231=	p.P231=	ENST00000307161	NM_005958.3	231	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3848.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTGGTTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01149,Prints_domain:PR00857	.	.	ENSP00000302811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307161	Transcript	.	.	ENSG00000168412	7463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTR1A_HUMAN	MTNR1A	HGNC	.	.	UPI0000050407	SNV	MTNR1A,synonymous_variant,p.%3D,ENST00000307161,;RP11-215A19.2,intron_variant,,ENST00000509111,;	895	156	130	SUCCESS
DCUN1D4	23142	.	GRCh37	4	52757946	52757946	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	56	0	ENST00000334635.5:c.435T>G	p.Ala145=	p.A145=	ENST00000334635	NM_001040402.1	145	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS33982.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCTTGGAA	NONE	.	.	PROSITE_profiles:PS51229,hmmpanther:PTHR12281,hmmpanther:PTHR12281:SF8	.	.	ENSP00000334625	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000334635	Transcript	.	.	ENSG00000109184	28998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCNL4_HUMAN	DCUN1D4	HGNC	B4DH26_HUMAN	.	UPI00001C1E10	SNV	DCUN1D4,synonymous_variant,p.%3D,ENST00000505403,;DCUN1D4,synonymous_variant,p.%3D,ENST00000381441,;DCUN1D4,synonymous_variant,p.%3D,ENST00000381437,;DCUN1D4,synonymous_variant,p.%3D,ENST00000334635,;DCUN1D4,synonymous_variant,p.%3D,ENST00000451288,;DCUN1D4,upstream_gene_variant,,ENST00000510808,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000510587,;DCUN1D4,intron_variant,,ENST00000507659,;DCUN1D4,downstream_gene_variant,,ENST00000504113,;DCUN1D4,synonymous_variant,p.%3D,ENST00000505634,;DCUN1D4,3_prime_UTR_variant,,ENST00000509068,;DCUN1D4,3_prime_UTR_variant,,ENST00000502930,;DCUN1D4,3_prime_UTR_variant,,ENST00000477560,;DCUN1D4,3_prime_UTR_variant,,ENST00000507741,;DCUN1D4,3_prime_UTR_variant,,ENST00000509376,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504923,;	615	56	70	SUCCESS
ALB	213	.	GRCh37	4	74274379	74274380	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AGCA	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	115	0	ENST00000295897.4:c.339_340insAGCA	p.Cys114SerfsTer9	p.C114Sfs*9	ENST00000295897	NM_000477.5	113	-/AGCA	0	.	.	.	.	.	AGCA	-/SX	protein_coding	YES	CCDS3555.1	339-340	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGACTGCTG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	insertion	ALB,frameshift_variant,p.Cys114SerfsTer9,ENST00000509063,;ALB,frameshift_variant,p.Cys114SerfsTer9,ENST00000295897,;ALB,frameshift_variant,p.Cys116SerfsTer9,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	428-429	115	97	SUCCESS
C4orf26	0	.	GRCh37	4	76481309	76481309	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	105	0	ENST00000435974.2:c.17G>C	p.Cys6Ser	p.C6S	ENST00000435974	NM_001206981.1	6	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS56334.1	17	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTGCTTCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-TM	.	.	ENSP00000406925	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000435974	Transcript	1	.	ENSG00000174792	26300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.32)	.	CD026_HUMAN	C4orf26	HGNC	.	.	UPI0001AE74FF	SNV	C4orf26,missense_variant,p.Cys6Ser,ENST00000435974,;C4orf26,missense_variant,p.Cys6Ser,ENST00000311623,;C4orf26,non_coding_transcript_exon_variant,,ENST00000514064,;C4orf26,missense_variant,p.Cys6Ser,ENST00000511093,;	35	105	101	SUCCESS
HPSE	10855	.	GRCh37	4	84216608	84216608	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	32	136	0	ENST00000311412.5:c.1521C>T	p.Thr507=	p.T507=	ENST00000311412	NM_001098540.2	507	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3602.1	1521	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGGTTTG	NONE	.	.	hmmpanther:PTHR14363:SF10,hmmpanther:PTHR14363	.	.	ENSP00000384262	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000405413	Transcript	.	.	ENSG00000173083	5164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPSE_HUMAN	HPSE	HGNC	.	.	UPI000013F168	SNV	HPSE,synonymous_variant,p.%3D,ENST00000513463,;HPSE,synonymous_variant,p.%3D,ENST00000405413,;HPSE,synonymous_variant,p.%3D,ENST00000512196,;HPSE,synonymous_variant,p.%3D,ENST00000311412,;HPSE,3_prime_UTR_variant,,ENST00000507150,;HPSE,3_prime_UTR_variant,,ENST00000508891,;HPSE,3_prime_UTR_variant,,ENST00000509906,;	1658	136	123	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215179	140215179	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	21	146	0	ENST00000525929.1:c.1211A>G	p.Tyr404Cys	p.Y404C	ENST00000525929	NM_018910.2	404	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS54918.1	1211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTACTATT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Tyr404Cys,ENST00000378125,;PCDHA7,missense_variant,p.Tyr404Cys,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1211	146	106	SUCCESS
PCDHA9	9752	.	GRCh37	5	140229434	140229434	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145248721	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	56	190	0	ENST00000532602.1:c.1354G>A	p.Ala452Thr	p.A452T	ENST00000532602	NM_031857.1	452	Gca/Aca	0	A:0.0002	.	.	.	.	A	A/T	protein_coding	YES	CCDS54920.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACGCACCA	CODON|p.N451N|c.1353C>T|3,CODON|p.N451N|c.1353C>T|3,BUFFER|p.P453S|c.1357C>T|3,BUFFER|p.P453S|c.1357C>T|3	byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	A:0	ENSP00000436042	.	1/4	.	.	.	.	.	.	.	.	rs145248721	1/4	PASS	ENST00000532602	Transcript	.	.	ENSG00000204961	8675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	deleterious_low_confidence(0.01)	.	PCDA9_HUMAN	PCDHA9	HGNC	.	.	UPI00001273D1	SNV	PCDHA9,missense_variant,p.Ala452Thr,ENST00000378122,;PCDHA9,missense_variant,p.Ala452Thr,ENST00000532602,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	2387	190	192	SUCCESS
PCDHA14	26307	.	GRCh37	5	140242408	140242408	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs782375120	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	22	0	ENST00000506751.1:n.1549C>T		p.*517*	ENST00000506751		190		0	.	.	.	.	.	T	A/T	protein_coding	YES	.	568	MUTECT|MUSE	.	GAGAGCGCGCG	NONE	.	.	.	.	.	ENSP00000424817	.	1/1	.	.	.	.	.	.	.	.	rs782375120	1/1	PASS	ENST00000502505	Transcript	.	.	ENSG00000249034	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.695)	.	.	.	.	AC005609.1	Clone_based_ensembl_gene	Q8NB83_HUMAN	.	UPI0000073A41	SNV	AC005609.1,missense_variant,p.Ala190Thr,ENST00000502505,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;	817	22	20	SUCCESS
RGS14	10636	.	GRCh37	5	176784918	176784918	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	58	0	ENST00000408923.3:c.-108T>G		p.*36*	ENST00000408923	NM_006480.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43405.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGTCAGGC	NONE	.	.	.	.	.	ENSP00000386229	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000408923	Transcript	.	.	ENSG00000169220	9996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS14_HUMAN	RGS14	HGNC	.	.	UPI0000163BE6	SNV	RGS14,5_prime_UTR_variant,,ENST00000408923,;	81	58	43	SUCCESS
IL7R	3575	.	GRCh37	5	35867558	35867558	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	56	0	ENST00000303115.3:c.372C>T	p.Thr124=	p.T124=	ENST00000303115	NM_002185.3	124	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3911.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACCACTAT	NONE	.	.	hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF21	.	.	ENSP00000306157	.	3/8	.	.	.	.	.	.	.	.	COSM737978	3/8	PASS	ENST00000303115	Transcript	1	.	ENSG00000168685	6024	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IL7RA_HUMAN	IL7R	HGNC	D6RG28_HUMAN,D6RCR9_HUMAN	.	UPI000013E861	SNV	IL7R,synonymous_variant,p.%3D,ENST00000343305,;IL7R,synonymous_variant,p.%3D,ENST00000511982,;IL7R,synonymous_variant,p.%3D,ENST00000303115,;IL7R,synonymous_variant,p.%3D,ENST00000506850,;IL7R,non_coding_transcript_exon_variant,,ENST00000511031,;IL7R,synonymous_variant,p.%3D,ENST00000514217,;	501	56	51	SUCCESS
PDE4D	5144	.	GRCh37	5	59189173	59189173	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1034636680	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	61	337	0	ENST00000340635.6:c.277G>A	p.Gly93Ser	p.G93S	ENST00000340635	NM_001104631.1	93	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS47213.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCGCGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000345502	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000340635	Transcript	1	.	ENSG00000113448	8783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.04)	.	PDE4D_HUMAN	PDE4D	HGNC	D6RHE0_HUMAN	.	UPI0000050EB1	SNV	PDE4D,missense_variant,p.Gly93Ser,ENST00000340635,;PDE4D,intron_variant,,ENST00000546160,;PDE4D,intron_variant,,ENST00000502484,;PDE4D,intron_variant,,ENST00000512069,;PDE4D,upstream_gene_variant,,ENST00000405053,;PDE4D,intron_variant,,ENST00000514231,;	453	337	258	SUCCESS
WISP3	0	.	GRCh37	6	112388221	112388221	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	70	0	ENST00000361714.1:c.644-1187T>C		p.*215*	ENST00000361714				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5097.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACTGTTGTCT	NONE	.	.	.	.	.	ENSP00000354734	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361714	Transcript	.	.	ENSG00000112761	12771	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WISP3_HUMAN	WISP3	HGNC	Q3T1A9_HUMAN	.	UPI000021BFC1	SNV	WISP3,5_prime_UTR_variant,,ENST00000409166,;WISP3,intron_variant,,ENST00000361714,;WISP3,intron_variant,,ENST00000368663,;WISP3,intron_variant,,ENST00000230529,;WISP3,intron_variant,,ENST00000368666,;WISP3,intron_variant,,ENST00000604763,;TUBE1,downstream_gene_variant,,ENST00000368662,;TUBE1,downstream_gene_variant,,ENST00000604814,;WISP3,synonymous_variant,p.%3D,ENST00000454589,;WISP3,synonymous_variant,p.%3D,ENST00000368664,;TUBE1,downstream_gene_variant,,ENST00000605457,;	.	70	55	SUCCESS
AKAP12	9590	.	GRCh37	6	151671011	151671011	+	synonymous_variant	Silent	SNP	C	C	T	rs370245999	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	21	80	0	ENST00000253332.1:c.1485C>T	p.Gly495=	p.G495=	ENST00000253332		495	ggC/ggT	0	T:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS5229.1	1485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCGTTGT	NONE	byCluster	.	hmmpanther:PTHR23209	.	T:0	ENSP00000384537	.	4/5	.	.	.	.	.	.	.	.	rs370245999	4/5	PASS	ENST00000402676	Transcript	.	.	ENSG00000131016	370	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKA12_HUMAN	AKAP12	HGNC	.	.	UPI000013CDC7	SNV	AKAP12,synonymous_variant,p.%3D,ENST00000359755,;AKAP12,synonymous_variant,p.%3D,ENST00000354675,;AKAP12,synonymous_variant,p.%3D,ENST00000253332,;AKAP12,synonymous_variant,p.%3D,ENST00000402676,;snoU13,upstream_gene_variant,,ENST00000458767,;AKAP12,downstream_gene_variant,,ENST00000490177,;	1725	80	86	SUCCESS
FAM135A	57579	.	GRCh37	6	71212389	71212389	+	synonymous_variant	Silent	SNP	G	G	A	rs73746042	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	81	0	ENST00000370479.3:c.873G>A	p.Ala291=	p.A291=	ENST00000370479		291	gcG/gcA	0	A:0.0027	A:0.0053	.	A:0	.	A	A	protein_coding	YES	CCDS55028.1	924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGCAACT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF12	A:0	A:0	ENSP00000410768	A:0	12/22	.	.	.	.	.	.	.	.	rs73746042	12/22	PASS	ENST00000418814	Transcript	.	A:0.0014	ENSG00000082269	21084	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	F135A_HUMAN	FAM135A	HGNC	D6RFG9_HUMAN,D6REA8_HUMAN,D6RC17_HUMAN	.	UPI000004A0FF	SNV	FAM135A,synonymous_variant,p.%3D,ENST00000457062,;FAM135A,synonymous_variant,p.%3D,ENST00000505868,;FAM135A,synonymous_variant,p.%3D,ENST00000361499,;FAM135A,synonymous_variant,p.%3D,ENST00000505769,;FAM135A,synonymous_variant,p.%3D,ENST00000418814,;FAM135A,synonymous_variant,p.%3D,ENST00000370479,;FAM135A,synonymous_variant,p.%3D,ENST00000515323,;FAM135A,3_prime_UTR_variant,,ENST00000194672,;FAM135A,non_coding_transcript_exon_variant,,ENST00000425415,;FAM135A,non_coding_transcript_exon_variant,,ENST00000393299,;	1538	81	88	SUCCESS
NT5E	4907	.	GRCh37	6	86176881	86176881	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	27	148	0	ENST00000257770.3:c.443G>A	p.Gly148Glu	p.G148E	ENST00000257770	NM_002526.3	148	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS5002.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGGGCCAC	NONE	.	.	Superfamily_domains:SSF56300,Gene3D:3.60.21.10,Pfam_domain:PF00149,hmmpanther:PTHR11575:SF21,hmmpanther:PTHR11575	.	.	ENSP00000257770	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000257770	Transcript	.	.	ENSG00000135318	8021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.9)	.	5NTD_HUMAN	NT5E	HGNC	.	.	UPI0000124F48	SNV	NT5E,missense_variant,p.Gly148Glu,ENST00000369646,;NT5E,missense_variant,p.Gly148Glu,ENST00000369651,;NT5E,missense_variant,p.Gly148Glu,ENST00000257770,;NT5E,upstream_gene_variant,,ENST00000416334,;	492	148	106	SUCCESS
DNAJC2	27000	.	GRCh37	7	102985144	102985144	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	16	0	ENST00000379263.3:c.-75A>G		p.*25*	ENST00000379263	NM_014377.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43628.1	.	MUTECT|MUSE	.	CCAGCTCTACC	NONE	.	.	.	.	.	ENSP00000368565	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000379263	Transcript	.	.	ENSG00000105821	13192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJC2_HUMAN	DNAJC2	HGNC	Q08AR5_HUMAN,C9IZ83_HUMAN	.	UPI000020F858	SNV	DNAJC2,5_prime_UTR_variant,,ENST00000379263,;DNAJC2,5_prime_UTR_variant,,ENST00000454277,;DNAJC2,5_prime_UTR_variant,,ENST00000412522,;PSMC2,intron_variant,,ENST00000457587,;PSMC2,intron_variant,,ENST00000425206,;DNAJC2,upstream_gene_variant,,ENST00000249270,;PSMC2,upstream_gene_variant,,ENST00000292644,;PSMC2,upstream_gene_variant,,ENST00000435765,;DNAJC2,upstream_gene_variant,,ENST00000426036,;PSMC2,upstream_gene_variant,,ENST00000544811,;DNAJC2,5_prime_UTR_variant,,ENST00000379257,;DNAJC2,upstream_gene_variant,,ENST00000464253,;DNAJC2,upstream_gene_variant,,ENST00000475065,;CTA-276O3.4,upstream_gene_variant,,ENST00000452798,;	177	16	16	SUCCESS
DUS4L	11062	.	GRCh37	7	107217956	107217956	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	111	0	ENST00000265720.3:c.905C>G	p.Ser302Ter	p.S302*	ENST00000265720	NM_001270419.1	302	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS5745.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCAAGCA	NONE	.	.	hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF25,PIRSF_domain:PIRSF006621,Superfamily_domains:SSF51395	.	.	ENSP00000265720	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265720	Transcript	.	.	ENSG00000105865	21517	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS4L_HUMAN	DUS4L	HGNC	A4D0R5_HUMAN,F8WEL2_HUMAN,B4DFH2_HUMAN	.	UPI000006DD5D	SNV	DUS4L,stop_gained,p.Ser181Ter,ENST00000402620,;DUS4L,stop_gained,p.Ser302Ter,ENST00000265720,;BCAP29,upstream_gene_variant,,ENST00000479917,;BCAP29,upstream_gene_variant,,ENST00000379119,;BCAP29,upstream_gene_variant,,ENST00000465919,;BCAP29,upstream_gene_variant,,ENST00000421217,;BCAP29,upstream_gene_variant,,ENST00000473124,;BCAP29,upstream_gene_variant,,ENST00000445771,;BCAP29,upstream_gene_variant,,ENST00000005259,;BCAP29,upstream_gene_variant,,ENST00000457837,;BCAP29,upstream_gene_variant,,ENST00000379117,;RP4-593H12.1,downstream_gene_variant,,ENST00000610269,;BCAP29,upstream_gene_variant,,ENST00000466094,;BCAP29,upstream_gene_variant,,ENST00000494086,;DUS4L,3_prime_UTR_variant,,ENST00000431839,;DUS4L,3_prime_UTR_variant,,ENST00000436411,;DUS4L,3_prime_UTR_variant,,ENST00000422290,;DUS4L,3_prime_UTR_variant,,ENST00000443233,;DUS4L,non_coding_transcript_exon_variant,,ENST00000485825,;DUS4L,downstream_gene_variant,,ENST00000497798,;DUS4L,downstream_gene_variant,,ENST00000471763,;BCAP29,upstream_gene_variant,,ENST00000482371,;DUS4L,downstream_gene_variant,,ENST00000458611,;BCAP29,upstream_gene_variant,,ENST00000442065,;BCAP29,upstream_gene_variant,,ENST00000486326,;	1267	111	97	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117431557	117431557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	41	176	0	ENST00000160373.3:c.1693G>T	p.Val565Phe	p.V565F	ENST00000160373	NM_033427.2	565	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS5774.1	1693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAACCTTGA	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	deleterious(0)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Val94Phe,ENST00000446636,;CTTNBP2,missense_variant,p.Val565Phe,ENST00000160373,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Val565Phe,ENST00000441556,;	1785	176	167	SUCCESS
IMPDH1	3614	.	GRCh37	7	128034577	128034577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	37	0	ENST00000470772.1:c.1369C>T	p.Pro457Ser	p.P457S	ENST00000470772	NM_001142573.1	457	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34749.1	1627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGGCACGA	NONE	.	.	HAMAP:MF_01964,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,Superfamily_domains:SSF51412	.	.	ENSP00000345096	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000338791	Transcript	.	.	ENSG00000106348	6052	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0.01)	.	IMDH1_HUMAN	IMPDH1	HGNC	.	.	UPI00001BDC74	SNV	IMPDH1,missense_variant,p.Pro510Ser,ENST00000419067,;IMPDH1,missense_variant,p.Pro474Ser,ENST00000378717,;IMPDH1,missense_variant,p.Pro453Ser,ENST00000480861,;IMPDH1,missense_variant,p.Pro433Ser,ENST00000343214,;IMPDH1,missense_variant,p.Pro457Ser,ENST00000470772,;IMPDH1,missense_variant,p.Pro507Ser,ENST00000348127,;IMPDH1,missense_variant,p.Pro543Ser,ENST00000338791,;IMPDH1,missense_variant,p.Pro433Ser,ENST00000496200,;IMPDH1,missense_variant,p.Pro533Ser,ENST00000354269,;IMPDH1,downstream_gene_variant,,ENST00000497868,;IMPDH1,3_prime_UTR_variant,,ENST00000484496,;IMPDH1,3_prime_UTR_variant,,ENST00000469328,;IMPDH1,non_coding_transcript_exon_variant,,ENST00000460045,;IMPDH1,downstream_gene_variant,,ENST00000468842,;	1978	37	40	SUCCESS
OR9A2	135924	.	GRCh37	7	142723576	142723576	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	68	0	ENST00000350513.2:c.644C>T	p.Thr215Ile	p.T215I	ENST00000350513	NM_001001658.1	215	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34767.1	644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGGTGTAG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF126,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000316518	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000350513	Transcript	.	.	ENSG00000179468	15093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.44)	.	OR9A2_HUMAN	OR9A2	HGNC	A4D2H9_HUMAN	.	UPI0000041C18	SNV	OR9A2,missense_variant,p.Thr215Ile,ENST00000350513,;	707	68	65	SUCCESS
RBM33	155435	.	GRCh37	7	155559207	155559207	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1019255866	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	96	1	ENST00000401878.3:c.3233G>T	p.Arg1078Leu	p.R1078L	ENST00000401878	NM_053043.2	1078	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS5941.2	3233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGGGGC	NONE	.	.	hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2	.	.	ENSP00000384160	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000401878	Transcript	.	.	ENSG00000184863	27223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	RBM33_HUMAN	RBM33	HGNC	C9J7M3_HUMAN	.	UPI00015743D7	SNV	RBM33,missense_variant,p.Arg1078Leu,ENST00000401878,;RBM33,missense_variant,p.Arg14Leu,ENST00000341148,;RBM33,missense_variant,p.Arg14Leu,ENST00000438356,;RBM33,missense_variant,p.Arg851Leu,ENST00000392761,;RBM33,upstream_gene_variant,,ENST00000392755,;	3431	97	92	SUCCESS
HECW1	23072	.	GRCh37	7	43484797	43484797	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	50	0	ENST00000395891.2:c.2026T>C	p.Ser676Pro	p.S676P	ENST00000395891	NM_015052.3	676	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS5469.2	2026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCGTCCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	.	.	ENSP00000379228	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000395891	Transcript	.	.	ENSG00000002746	22195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	deleterious_low_confidence(0.04)	.	HECW1_HUMAN	HECW1	HGNC	A4D1V5_HUMAN	.	UPI0000D74C41	SNV	HECW1,missense_variant,p.Ser676Pro,ENST00000453890,;HECW1,missense_variant,p.Ser676Pro,ENST00000395891,;HECW1,downstream_gene_variant,,ENST00000471043,;	2631	50	55	SUCCESS
AEBP1	165	.	GRCh37	7	44149650	44149650	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	85	0	ENST00000223357.3:c.1187A>T	p.Glu396Val	p.E396V	ENST00000223357	NM_001129.4	396	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS5476.1	1187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGAGGACA	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000223357	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000223357	Transcript	.	.	ENSG00000106624	303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	AEBP1_HUMAN	AEBP1	HGNC	B4DJB3_HUMAN	.	UPI00000746E2	SNV	AEBP1,missense_variant,p.Glu396Val,ENST00000223357,;POLD2,downstream_gene_variant,,ENST00000406581,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000452185,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000450684,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,non_coding_transcript_exon_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000489883,;	1492	85	72	SUCCESS
C8orf74	203076	.	GRCh37	8	10557811	10557811	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765461161	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	78	0	ENST00000304519.5:c.715C>T	p.Arg239Cys	p.R239C	ENST00000304519	NM_001040032.1	239	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS47800.1	715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCGCCAG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000307129	.	4/4	.	.	.	.	.	.	.	.	rs765461161	4/4	PASS	ENST00000304519	Transcript	.	.	ENSG00000171060	32296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	CH074_HUMAN	C8orf74	HGNC	.	.	UPI00001D82A9	SNV	C8orf74,missense_variant,p.Arg239Cys,ENST00000304519,;RP1L1,intron_variant,,ENST00000329335,;C8orf74,3_prime_UTR_variant,,ENST00000523289,;	744	78	52	SUCCESS
C8orf76	84933	.	GRCh37	8	124238821	124238821	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	82	66	0	ENST00000276704.4:c.867del	p.Asn290ThrfsTer2	p.N290Tfs*2	ENST00000276704	NM_032847.2	289	agG/ag	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS6341.1	867	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAGTTCCTCTC	NONE	.	.	hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1	.	.	ENSP00000276704	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000276704	Transcript	.	.	ENSG00000189376	25924	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CH076_HUMAN	C8orf76	HGNC	.	.	UPI000006E851	deletion	C8orf76,frameshift_variant,p.Asn290ThrfsTer2,ENST00000276704,;ZHX1-C8ORF76,frameshift_variant,p.Asn258ThrfsTer2,ENST00000357082,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000517760,;C8orf76,non_coding_transcript_exon_variant,,ENST00000519791,;C8orf76,downstream_gene_variant,,ENST00000518996,;	919	66	226	SUCCESS
MTSS1	9788	.	GRCh37	8	125568510	125568510	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	68	0	ENST00000518547.1:c.1367A>G	p.Gln456Arg	p.Q456R	ENST00000518547	NM_014751.4	456	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS6353.1	1367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTGAGCC	NONE	.	.	hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10	.	.	ENSP00000429064	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000518547	Transcript	.	.	ENSG00000170873	20443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	MTSS1_HUMAN	MTSS1	HGNC	E5RJX3_HUMAN	.	UPI000019B3D8	SNV	MTSS1,missense_variant,p.Gln239Arg,ENST00000523179,;MTSS1,missense_variant,p.Gln346Arg,ENST00000524090,;MTSS1,missense_variant,p.Gln174Arg,ENST00000431961,;MTSS1,missense_variant,p.Gln230Arg,ENST00000395508,;MTSS1,missense_variant,p.Gln456Arg,ENST00000518547,;MTSS1,missense_variant,p.Gln431Arg,ENST00000378017,;MTSS1,missense_variant,p.Gln174Arg,ENST00000354184,;MTSS1,missense_variant,p.Gln244Arg,ENST00000519168,;MTSS1,missense_variant,p.Gln460Arg,ENST00000325064,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000522118,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520094,;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;MTSS1,non_coding_transcript_exon_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;	1841	68	116	SUCCESS
ADCY8	114	.	GRCh37	8	132052016	132052016	+	synonymous_variant	Silent	SNP	C	C	T	rs80098122	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	20	107	0	ENST00000286355.5:c.564G>A	p.Leu188=	p.L188=	ENST00000286355	NM_001115.2	188	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6363.1	564	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCCAGCAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	.	.	ENSP00000286355	.	1/18	.	.	.	.	.	.	.	.	rs80098122	1/18	PASS	ENST00000286355	Transcript	.	.	ENSG00000155897	239	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADCY8_HUMAN	ADCY8	HGNC	E5RFR2_HUMAN	.	UPI000012887C	SNV	ADCY8,synonymous_variant,p.%3D,ENST00000286355,;ADCY8,synonymous_variant,p.%3D,ENST00000377928,;	2657	107	161	SUCCESS
PLEKHA2	59339	.	GRCh37	8	38793565	38793565	+	synonymous_variant	Silent	SNP	G	G	C	rs754560259	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	51	0	ENST00000420274.1:c.195G>C	p.Ser65=	p.S65=	ENST00000420274	NM_021623.1	65	tcG/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	.	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCGAAGGT	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR14336:SF5,hmmpanther:PTHR14336,PROSITE_profiles:PS50003	.	.	ENSP00000393860	.	3/13	.	.	.	.	.	.	.	.	rs754560259,COSM2960684	3/13	PASS	ENST00000420274	Transcript	.	.	ENSG00000169499	14336	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PKHA2_HUMAN	PLEKHA2	HGNC	E5RGP3_HUMAN,A8K727_HUMAN	.	UPI0001596C50	SNV	PLEKHA2,synonymous_variant,p.%3D,ENST00000519640,;PLEKHA2,synonymous_variant,p.%3D,ENST00000420274,;PLEKHA2,synonymous_variant,p.%3D,ENST00000521746,;PLEKHA2,non_coding_transcript_exon_variant,,ENST00000521784,;PLEKHA2,non_coding_transcript_exon_variant,,ENST00000388745,;PLEKHA2,non_coding_transcript_exon_variant,,ENST00000518571,;	429	51	29	SUCCESS
PENK	5179	.	GRCh37	8	57358296	57358296	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	79	86	0	ENST00000314922.3:c.138+79A>T		p.*46*	ENST00000314922	NM_006211.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6168.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGTGGGCC	NONE	.	.	.	.	.	ENSP00000324248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,missense_variant,p.Thr73Ser,ENST00000518770,;PENK,intron_variant,,ENST00000314922,;PENK,intron_variant,,ENST00000451791,;PENK,intron_variant,,ENST00000518974,;PENK,intron_variant,,ENST00000523051,;PENK,intron_variant,,ENST00000517415,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000523274,;PENK,downstream_gene_variant,,ENST00000521153,;	.	87	135	SUCCESS
PENK	5179	.	GRCh37	8	57358297	57358297	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	81	89	0	ENST00000314922.3:c.138+78C>T		p.*46*	ENST00000314922	NM_006211.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6168.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTGGGCCG	NONE	.	.	.	.	.	ENSP00000324248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,synonymous_variant,p.%3D,ENST00000518770,;PENK,intron_variant,,ENST00000314922,;PENK,intron_variant,,ENST00000451791,;PENK,intron_variant,,ENST00000518974,;PENK,intron_variant,,ENST00000523051,;PENK,intron_variant,,ENST00000517415,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000523274,;PENK,downstream_gene_variant,,ENST00000521153,;	.	89	137	SUCCESS
KIAA0368	0	.	GRCh37	9	114246490	114246490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1232450417	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	40	0	ENST00000259335.4:c.331C>T	p.Pro111Ser	p.P111S	ENST00000259335	NM_001080398.1	111	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS48006.1	331	MUTECT|MUSE	.	CCGGGGAGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000259335	.	3/51	.	.	.	.	.	.	.	.	.	3/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,missense_variant,p.Pro111Ser,ENST00000259335,;KIAA0368,5_prime_UTR_variant,,ENST00000338205,;KIAA0368,upstream_gene_variant,,ENST00000602978,;KIAA0368,upstream_gene_variant,,ENST00000602447,;	331	40	34	SUCCESS
OR1K1	392392	.	GRCh37	9	125562763	125562763	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs747212065	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	35	1	ENST00000277309.2:c.362A>C	p.Tyr121Ser	p.Y121S	ENST00000277309	NM_080859.1	121	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS35132.1	362	MUTECT|SOMATICSNIPER|VARSCANS	.	GGCCTATGACT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000277309	.	1/1	.	.	.	.	.	.	.	.	rs747212065	1/1	PASS	ENST00000277309	Transcript	.	.	ENSG00000165204	8212	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.713)	.	deleterious(0)	.	OR1K1_HUMAN	OR1K1	HGNC	.	.	UPI000004B1FE	SNV	OR1K1,missense_variant,p.Tyr121Ser,ENST00000277309,;PDCL,intron_variant,,ENST00000436632,;	394	36	28	SUCCESS
GAPVD1	26130	.	GRCh37	9	128074846	128074846	+	synonymous_variant	Silent	SNP	A	A	G	rs1265113458	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	96	0	ENST00000394104.2:c.1557A>G	p.Leu519=	p.L519=	ENST00000394104	NM_001282679.1	519	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS35138.1	1557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTAGGTAC	NONE	.	.	hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101	.	.	ENSP00000377665	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,synonymous_variant,p.%3D,ENST00000297933,;GAPVD1,synonymous_variant,p.%3D,ENST00000470056,;GAPVD1,synonymous_variant,p.%3D,ENST00000394104,;GAPVD1,synonymous_variant,p.%3D,ENST00000431329,;GAPVD1,synonymous_variant,p.%3D,ENST00000394105,;GAPVD1,synonymous_variant,p.%3D,ENST00000265956,;GAPVD1,synonymous_variant,p.%3D,ENST00000394083,;GAPVD1,synonymous_variant,p.%3D,ENST00000467750,;GAPVD1,synonymous_variant,p.%3D,ENST00000436712,;GAPVD1,synonymous_variant,p.%3D,ENST00000495955,;GAPVD1,synonymous_variant,p.%3D,ENST00000312123,;GAPVD1,downstream_gene_variant,,ENST00000394084,;GAPVD1,synonymous_variant,p.%3D,ENST00000497580,;	1717	96	75	SUCCESS
NPR2	4882	.	GRCh37	9	35806115	35806115	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	60	0	ENST00000342694.2:c.2257G>T	p.Asp753Tyr	p.D753Y	ENST00000342694	NM_003995.3	753	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS6590.1	2257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGACCGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF231,hmmpanther:PTHR11920,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000341083	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000342694	Transcript	.	.	ENSG00000159899	7944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ANPRB_HUMAN	NPR2	HGNC	.	.	UPI0000125B42	SNV	NPR2,missense_variant,p.Asp12Tyr,ENST00000447210,;NPR2,missense_variant,p.Asp100Tyr,ENST00000421267,;NPR2,missense_variant,p.Asp753Tyr,ENST00000342694,;SPAG8,downstream_gene_variant,,ENST00000497810,;SPAG8,downstream_gene_variant,,ENST00000340291,;SPAG8,downstream_gene_variant,,ENST00000484764,;SPAG8,downstream_gene_variant,,ENST00000396638,;SPAG8,downstream_gene_variant,,ENST00000463889,;SPAG8,downstream_gene_variant,,ENST00000489063,;SPAG8,downstream_gene_variant,,ENST00000479751,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;SPAG8,downstream_gene_variant,,ENST00000471631,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000460836,;NPR2,upstream_gene_variant,,ENST00000448821,;SPAG8,downstream_gene_variant,,ENST00000475644,;SPAG8,downstream_gene_variant,,ENST00000472605,;NPR2,upstream_gene_variant,,ENST00000469249,;	2512	60	47	SUCCESS
ABHD17B	51104	.	GRCh37	9	74485146	74485146	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1193499434	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	93	0	ENST00000333421.6:c.500A>G	p.Tyr167Cys	p.Y167C	ENST00000333421	NM_001025780.1	167	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS35042.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCATATATA	NONE	.	.	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF48,Gene3D:3.40.50.1820,Pfam_domain:PF12695,Superfamily_domains:SSF53474	.	.	ENSP00000366240	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000377041	Transcript	.	.	ENSG00000107362	24278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.01)	.	AB17B_HUMAN	ABHD17B	HGNC	.	.	UPI0000210B1F	SNV	ABHD17B,missense_variant,p.Tyr167Cys,ENST00000377041,;ABHD17B,missense_variant,p.Tyr167Cys,ENST00000333421,;	801	93	66	SUCCESS
DMD	1756	.	GRCh37	X	31341775	31341775	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs398124083	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	69	118	0	ENST00000357033.4:c.9164C>T	p.Thr3055Met	p.T3055M	ENST00000357033	NM_004007.2	3055	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14233.1	9164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CAGACGCTGAA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50020,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:2.20.70.10,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF51045	.	.	ENSP00000354923	.	62/79	.	.	.	.	.	.	.	.	rs398124083	62/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.764)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Thr3055Met,ENST00000357033,;DMD,missense_variant,p.Thr751Met,ENST00000358062,;DMD,missense_variant,p.Thr595Met,ENST00000343523,;DMD,missense_variant,p.Thr595Met,ENST00000378707,;DMD,missense_variant,p.Thr595Met,ENST00000474231,;DMD,missense_variant,p.Thr3051Met,ENST00000378677,;DMD,missense_variant,p.Thr595Met,ENST00000359836,;DMD,missense_variant,p.Thr595Met,ENST00000541735,;DMD,splice_region_variant,,ENST00000469142,;	9371	118	142	SUCCESS
PSD	5662	.	GRCh37	10	104173644	104173644	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	16	162	0	ENST00000020673.5:c.1435A>G	p.Thr479Ala	p.T479A	ENST00000020673	NM_001270966.1	479	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS31272.1	1435	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTCCAAG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115	.	.	ENSP00000020673	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000020673	Transcript	.	.	ENSG00000059915	9507	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.041)	.	deleterious(0.05)	.	PSD1_HUMAN	PSD	HGNC	.	.	UPI0000404928	SNV	PSD,missense_variant,p.Thr479Ala,ENST00000020673,;PSD,missense_variant,p.Thr479Ala,ENST00000406432,;PSD,upstream_gene_variant,,ENST00000488194,;PSD,downstream_gene_variant,,ENST00000492902,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,upstream_gene_variant,,ENST00000461698,;	1962	162	146	SUCCESS
FAM21A	0	.	GRCh37	10	51843835	51843835	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	79	0	ENST00000282633.5:c.532C>G	p.Leu178Val	p.L178V	ENST00000282633	NM_001005751.1	178	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS41527.1	532	RADIA|VARSCANS	.	AGGATCTATAC	NONE	.	.	hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669	.	.	ENSP00000282633	.	6/31	.	.	.	.	.	.	.	.	.	6/31	PASS	ENST00000282633	Transcript	.	.	ENSG00000099290	23416	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA21A_HUMAN	FAM21A	HGNC	Q6P0Q7_HUMAN,Q5SNT8_HUMAN,B4E255_HUMAN	.	UPI000044FEAB	SNV	FAM21A,missense_variant,p.Leu178Val,ENST00000351071,;FAM21A,missense_variant,p.Leu90Val,ENST00000399339,;FAM21A,missense_variant,p.Leu178Val,ENST00000282633,;FAM21A,missense_variant,p.Leu178Val,ENST00000314664,;FAM21A,non_coding_transcript_exon_variant,,ENST00000476514,;FAM21A,intron_variant,,ENST00000492914,;FAM21A,intron_variant,,ENST00000434114,;	577	79	45	SUCCESS
PPP2R1B	5519	.	GRCh37	11	111636082	111636082	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	103	0	ENST00000527614.1:c.141A>G	p.Leu47=	p.L47=	ENST00000527614	NM_001177562.1	47	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS8348.1	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATAACTT	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648:SF9,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000311344	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000311129	Transcript	.	.	ENSG00000137713	9303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2AAB_HUMAN	PPP2R1B	HGNC	.	.	UPI000006CEE0	SNV	PPP2R1B,synonymous_variant,p.%3D,ENST00000527614,;PPP2R1B,synonymous_variant,p.%3D,ENST00000393055,;PPP2R1B,synonymous_variant,p.%3D,ENST00000311129,;PPP2R1B,synonymous_variant,p.%3D,ENST00000531373,;PPP2R1B,synonymous_variant,p.%3D,ENST00000341980,;PPP2R1B,5_prime_UTR_variant,,ENST00000427203,;PPP2R1B,intron_variant,,ENST00000426998,;RP11-108O10.2,downstream_gene_variant,,ENST00000534218,;RP11-108O10.2,downstream_gene_variant,,ENST00000529841,;PPP2R1B,synonymous_variant,p.%3D,ENST00000534521,;PPP2R1B,synonymous_variant,p.%3D,ENST00000534500,;	162	103	94	SUCCESS
RAG1	5896	.	GRCh37	11	36597509	36597509	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	55	0	ENST00000299440.5:c.2655G>A	p.Leu885=	p.L885=	ENST00000299440	NM_000448.2	885	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7902.1	2655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGATGGA	NONE	.	.	Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,synonymous_variant,p.%3D,ENST00000299440,;RAG2,non_coding_transcript_exon_variant,,ENST00000524423,;RAG1,synonymous_variant,p.%3D,ENST00000534663,;	2767	55	70	SUCCESS
LRRC4C	57689	.	GRCh37	11	40136207	40136207	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	96	0	ENST00000278198.2:c.1636A>G	p.Ile546Val	p.I546V	ENST00000278198		546	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31464.1	1636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATGACCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(1)	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Ile546Val,ENST00000528697,;LRRC4C,missense_variant,p.Ile546Val,ENST00000278198,;LRRC4C,missense_variant,p.Ile546Val,ENST00000530763,;LRRC4C,missense_variant,p.Ile546Val,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	3600	96	88	SUCCESS
OR51E2	81285	.	GRCh37	11	4703454	4703454	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs747842783	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	65	0	ENST00000396950.3:c.488A>C	p.Lys163Thr	p.K163T	ENST00000396950	NM_030774.3	163	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS7751.1	488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCTTGATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF99,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000380153	.	2/2	.	.	.	.	.	.	.	.	rs747842783	2/2	PASS	ENST00000396950	Transcript	.	.	ENSG00000167332	15195	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.161)	.	deleterious(0.03)	.	O51E2_HUMAN	OR51E2	HGNC	E9PPJ8_HUMAN	.	UPI000003B49B	SNV	OR51E2,missense_variant,p.Lys163Thr,ENST00000396950,;OR51E2,downstream_gene_variant,,ENST00000532598,;	728	65	93	SUCCESS
SYT7	9066	.	GRCh37	11	61323666	61323666	+	synonymous_variant	Silent	SNP	G	G	A	rs547867914	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	72	0	ENST00000263846.4:c.45C>T	p.Arg15=	p.R15=	ENST00000263846	NM_004200.3	15	cgC/cgT	0	.	A:0.0008	.	A:0	.	A	R	protein_coding	YES	CCDS58139.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCGCGCGA	NONE	by1000G	.	.	A:0	.	ENSP00000444201	A:0	2/10	.	.	.	.	.	.	.	.	rs547867914	2/10	PASS	ENST00000540677	Transcript	.	A:0.0002	ENSG00000011347	11514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SYT7_HUMAN	SYT7	HGNC	.	.	UPI0001639ECE	SNV	SYT7,synonymous_variant,p.%3D,ENST00000535826,;SYT7,synonymous_variant,p.%3D,ENST00000542836,;SYT7,synonymous_variant,p.%3D,ENST00000263846,;SYT7,synonymous_variant,p.%3D,ENST00000539008,;SYT7,synonymous_variant,p.%3D,ENST00000540677,;SYT7,synonymous_variant,p.%3D,ENST00000545053,;SYT7,synonymous_variant,p.%3D,ENST00000542670,;SYT7,synonymous_variant,p.%3D,ENST00000539246,;SYT7,synonymous_variant,p.%3D,ENST00000539468,;	51	72	77	SUCCESS
CNGA4	1262	.	GRCh37	11	6265537	6265537	+	synonymous_variant	Silent	SNP	C	C	T	rs560979109	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	56	0	ENST00000379936.2:c.1626C>T	p.Pro542=	p.P542=	ENST00000379936	NM_001037329.3	542	ccC/ccT	0	.	T:0	.	T:0.0014	.	T	P	protein_coding	YES	CCDS31408.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCGAGGA	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217	T:0	.	ENSP00000369268	T:0	6/6	.	.	.	.	.	.	.	.	rs560979109,COSM689824	6/6	PASS	ENST00000379936	Transcript	.	T:0.0002	ENSG00000132259	2152	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,synonymous_variant,p.%3D,ENST00000379936,;CNGA4,downstream_gene_variant,,ENST00000533426,;	1741	56	51	SUCCESS
ENDOD1	23052	.	GRCh37	11	94823277	94823277	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	24	73	0	ENST00000278505.4:c.186T>G	p.Ala62=	p.A62=	ENST00000278505	NM_015036.2	62	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS41699.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTGAGCG	NONE	.	.	Superfamily_domains:SSF54060,SMART_domains:SM00892,SMART_domains:SM00477,Gene3D:1g8tA00,hmmpanther:PTHR21472:SF8,hmmpanther:PTHR21472	.	.	ENSP00000278505	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000278505	Transcript	.	.	ENSG00000149218	29129	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENDD1_HUMAN	ENDOD1	HGNC	.	.	UPI0000071599	SNV	ENDOD1,synonymous_variant,p.%3D,ENST00000278505,;	304	73	89	SUCCESS
GIT2	9815	.	GRCh37	12	110421410	110421410	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	rs769645354	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	49	153	0	ENST00000355312.3:c.492+3A>G		p.X164_splice	ENST00000355312	NM_057169.3	164		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9138.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTACAGG	NONE	.	.	.	.	.	ENSP00000347464	.	.	.	.	.	.	.	.	.	.	rs769645354	.	PASS	ENST00000355312	Transcript	.	.	ENSG00000139436	4273	.	.	LOW	5/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GIT2_HUMAN	GIT2	HGNC	.	.	UPI000012B4C5	SNV	GIT2,splice_region_variant,,ENST00000361006,;GIT2,splice_region_variant,,ENST00000356259,;GIT2,splice_region_variant,,ENST00000338373,;GIT2,splice_region_variant,,ENST00000457474,;GIT2,splice_region_variant,,ENST00000355312,;GIT2,splice_region_variant,,ENST00000551209,;GIT2,splice_region_variant,,ENST00000550186,;GIT2,splice_region_variant,,ENST00000553118,;GIT2,splice_region_variant,,ENST00000343646,;GIT2,splice_region_variant,,ENST00000320063,;GIT2,splice_region_variant,,ENST00000354574,;GIT2,splice_region_variant,,ENST00000547815,;GIT2,splice_region_variant,,ENST00000360185,;TCHP,splice_region_variant,,ENST00000550780,;GIT2,splice_region_variant,,ENST00000548643,;GIT2,splice_region_variant,,ENST00000551455,;GIT2,downstream_gene_variant,,ENST00000547267,;GIT2,upstream_gene_variant,,ENST00000551721,;	.	153	155	SUCCESS
NAA25	80018	.	GRCh37	12	112481516	112481516	+	synonymous_variant	Silent	SNP	G	G	C	rs779341242	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	85	0	ENST00000261745.4:c.2163C>G	p.Ser721=	p.S721=	ENST00000261745	NM_024953.3	721	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9159.1	2163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGGATAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF3	.	.	ENSP00000261745	.	18/24	.	.	.	.	.	.	.	.	rs779341242	18/24	PASS	ENST00000261745	Transcript	.	.	ENSG00000111300	25783	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA25_HUMAN	NAA25	HGNC	.	.	UPI00001FBB50	SNV	NAA25,synonymous_variant,p.%3D,ENST00000261745,;NAA25,3_prime_UTR_variant,,ENST00000549711,;NAA25,3_prime_UTR_variant,,ENST00000551858,;NAA25,non_coding_transcript_exon_variant,,ENST00000552527,;NAA25,upstream_gene_variant,,ENST00000550701,;	2412	85	69	SUCCESS
MANSC1	54682	.	GRCh37	12	12483617	12483617	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	86	0	ENST00000535902.1:c.640G>T	p.Glu214Ter	p.E214*	ENST00000535902		214	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS8648.1	640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCTTGAT	NONE	.	.	hmmpanther:PTHR16021:SF7,hmmpanther:PTHR16021	.	.	ENSP00000438205	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000535902	Transcript	.	.	ENSG00000111261	25505	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANS1_HUMAN	MANSC1	HGNC	F5H6G8_HUMAN,F5H3M3_HUMAN	.	UPI0000049E05	SNV	MANSC1,stop_gained,p.Glu214Ter,ENST00000535902,;MANSC1,stop_gained,p.Glu133Ter,ENST00000545735,;MANSC1,stop_gained,p.Glu180Ter,ENST00000396349,;	1204	86	89	SUCCESS
RIMBP2	23504	.	GRCh37	12	130935855	130935855	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs113895223	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	86	1	ENST00000261655.4:c.338C>T	p.Ala113Val	p.A113V	ENST00000261655	NM_015347.4	113	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31925.1	338	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGATCGCAGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18	.	.	ENSP00000261655	.	5/19	.	.	.	.	.	.	.	.	rs113895223	5/19	PASS	ENST00000261655	Transcript	.	.	ENSG00000060709	30339	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	RIMB2_HUMAN	RIMBP2	HGNC	F5H3X3_HUMAN	.	UPI00001C1F42	SNV	RIMBP2,missense_variant,p.Ala21Val,ENST00000536002,;RIMBP2,missense_variant,p.Ala113Val,ENST00000261655,;RIMBP2,missense_variant,p.Ala21Val,ENST00000535703,;	502	87	72	SUCCESS
ANKLE2	23141	.	GRCh37	12	133319812	133319812	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	16	83	0	ENST00000357997.5:c.1281A>C	p.Val427=	p.V427=	ENST00000357997	NM_015114.1	427	gtA/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS41869.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACTACATC	NONE	.	.	hmmpanther:PTHR20976,hmmpanther:PTHR20976:SF1,Pfam_domain:PF13606,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000350686	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000357997	Transcript	.	.	ENSG00000176915	29101	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKL2_HUMAN	ANKLE2	HGNC	F5H417_HUMAN,F5H2H5_HUMAN,F5H1E7_HUMAN,F5H1D4_HUMAN	.	UPI00001981FB	SNV	ANKLE2,synonymous_variant,p.%3D,ENST00000545623,;ANKLE2,synonymous_variant,p.%3D,ENST00000337516,;ANKLE2,synonymous_variant,p.%3D,ENST00000357997,;ANKLE2,synonymous_variant,p.%3D,ENST00000539605,;ANKLE2,5_prime_UTR_variant,,ENST00000535036,;ANKLE2,downstream_gene_variant,,ENST00000546061,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000538637,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000538591,;ANKLE2,upstream_gene_variant,,ENST00000439231,;ANKLE2,upstream_gene_variant,,ENST00000505031,;RP13-672B3.5,upstream_gene_variant,,ENST00000539323,;	1371	83	77	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19285332	19285332	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	90	0	ENST00000299275.6:c.175C>T	p.Pro59Ser	p.P59S	ENST00000299275	NM_019012.5	59	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS58213.1	175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGCCTACT	NONE	.	.	PROSITE_profiles:PS50020,hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752,Gene3D:2.20.70.10,Pfam_domain:PF00397,SMART_domains:SM00456,Superfamily_domains:SSF51045	.	.	ENSP00000404296	.	3/32	.	.	.	.	.	.	.	.	.	3/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,missense_variant,p.Pro59Ser,ENST00000317589,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000429027,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000538714,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000299275,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000540972,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000355397,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000309364,;PLEKHA5,missense_variant,p.Pro59Ser,ENST00000359180,;PLEKHA5,5_prime_UTR_variant,,ENST00000539256,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000535357,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000538034,;	207	90	93	SUCCESS
KRT7	3855	.	GRCh37	12	52635403	52635403	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	58	0	ENST00000331817.5:c.841G>A	p.Ala281Thr	p.A281T	ENST00000331817	NM_005556.3	281	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8822.1	841	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGCCTGG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF133,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000329243	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000331817	Transcript	.	.	ENSG00000135480	6445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(0.24)	.	K2C7_HUMAN	KRT7	HGNC	.	.	UPI000013CF9E	SNV	KRT7,missense_variant,p.Ala281Thr,ENST00000331817,;RP3-416H24.1,downstream_gene_variant,,ENST00000546686,;KRT7,non_coding_transcript_exon_variant,,ENST00000552183,;KRT7,non_coding_transcript_exon_variant,,ENST00000546856,;KRT7,downstream_gene_variant,,ENST00000547613,;KRT7,upstream_gene_variant,,ENST00000552322,;KRT7,upstream_gene_variant,,ENST00000548657,;KRT7,upstream_gene_variant,,ENST00000549127,;KRT7,non_coding_transcript_exon_variant,,ENST00000548088,;KRT7,non_coding_transcript_exon_variant,,ENST00000551130,;	1024	58	52	SUCCESS
TSPAN8	7103	.	GRCh37	12	71537963	71537963	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	35	0	ENST00000247829.3:c.91A>G	p.Ile31Val	p.I31V	ENST00000247829	NM_004616.2	31	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8999.1	91	MUTECT|MUSE	.	CCATATTGCTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF33,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	.	.	ENSP00000377003	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000393330	Transcript	.	.	ENSG00000127324	11855	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.836)	.	tolerated(0.1)	.	TSN8_HUMAN	TSPAN8	HGNC	.	.	UPI000003EE40	SNV	TSPAN8,missense_variant,p.Ile31Val,ENST00000546561,;TSPAN8,missense_variant,p.Ile31Val,ENST00000247829,;TSPAN8,missense_variant,p.Ile31Val,ENST00000393330,;TSPAN8,upstream_gene_variant,,ENST00000552128,;TSPAN8,non_coding_transcript_exon_variant,,ENST00000552786,;	644	35	31	SUCCESS
C1R	715	.	GRCh37	12	7244239	7244239	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	71	0	ENST00000542285.1:c.37A>G	p.Arg13Gly	p.R13G	ENST00000542285		13	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	.	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGCAGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24265:SF78,hmmpanther:PTHR24265,PIRSF_domain:PIRSF001155	.	.	ENSP00000438615	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000542285	Transcript	.	.	ENSG00000159403	1246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.48)	.	.	C1R	HGNC	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN	.	UPI00020653A8	SNV	C1R,missense_variant,p.Arg14Gly,ENST00000540242,;C1R,missense_variant,p.Arg28Gly,ENST00000536053,;C1R,missense_variant,p.Arg13Gly,ENST00000542285,;C1R,missense_variant,p.Arg14Gly,ENST00000542220,;C1R,missense_variant,p.Arg14Gly,ENST00000543835,;C1R,missense_variant,p.Arg14Gly,ENST00000535233,;C1R,splice_region_variant,,ENST00000541042,;C1R,5_prime_UTR_variant,,ENST00000538050,;C1R,intron_variant,,ENST00000540610,;C1RL,downstream_gene_variant,,ENST00000544702,;C1RL,downstream_gene_variant,,ENST00000266542,;C1RL,downstream_gene_variant,,ENST00000545280,;C1RL,downstream_gene_variant,,ENST00000504702,;C1R,upstream_gene_variant,,ENST00000602298,;C1R,missense_variant,p.Arg14Gly,ENST00000543362,;C1RL,3_prime_UTR_variant,,ENST00000539803,;C1R,non_coding_transcript_exon_variant,,ENST00000536092,;C1R,non_coding_transcript_exon_variant,,ENST00000545466,;C1R,non_coding_transcript_exon_variant,,ENST00000540394,;C1R,upstream_gene_variant,,ENST00000543851,;	187	71	89	SUCCESS
MTMR6	9107	.	GRCh37	13	25842077	25842077	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	58	0	ENST00000381801.5:c.144A>G	p.Ile48Met	p.I48M	ENST00000381801	NM_004685.3	48	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS9313.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAATATCTA	NONE	.	.	hmmpanther:PTHR10807:SF34,hmmpanther:PTHR10807,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000371221	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000381801	Transcript	.	.	ENSG00000139505	7453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.886)	.	deleterious(0.03)	.	MTMR6_HUMAN	MTMR6	HGNC	Q8N5Q4_HUMAN	.	UPI00001FC8D0	SNV	MTMR6,missense_variant,p.Ile48Met,ENST00000540661,;MTMR6,missense_variant,p.Ile48Met,ENST00000381801,;	906	58	80	SUCCESS
SLITRK1	114798	.	GRCh37	13	84455656	84455656	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	35	151	0	ENST00000377084.2:c.-14T>C		p.*5*	ENST00000377084	NM_052910.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9464.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCAATTCA	NONE	.	.	.	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,5_prime_UTR_variant,,ENST00000377084,;	873	151	150	SUCCESS
GPR132	29933	.	GRCh37	14	105518034	105518034	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376299075	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	31	97	0	ENST00000329797.3:c.440C>T	p.Ala147Val	p.A147V	ENST00000329797	NM_013345.3	147	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS9997.1	440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGCGTAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01563	.	A:0.0001	ENSP00000328818	.	4/4	.	.	.	.	.	.	.	.	rs376299075	4/4	PASS	ENST00000329797	Transcript	.	.	ENSG00000183484	17482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0.01)	.	GP132_HUMAN	GPR132	HGNC	A8K7X7_HUMAN	.	UPI0000050461	SNV	GPR132,missense_variant,p.Ala147Val,ENST00000329797,;GPR132,missense_variant,p.Ala147Val,ENST00000539291,;GPR132,missense_variant,p.Ala138Val,ENST00000392585,;GPR132,downstream_gene_variant,,ENST00000549990,;GPR132,non_coding_transcript_exon_variant,,ENST00000546679,;GPR132,3_prime_UTR_variant,,ENST00000551869,;	1352	97	112	SUCCESS
C14orf28	122525	.	GRCh37	14	45373642	45373642	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	25	95	0	ENST00000325192.3:c.659G>C	p.Gly220Ala	p.G220A	ENST00000325192	NM_001017923.1	220	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS32069.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGGGCAC	NONE	.	.	.	.	.	ENSP00000326846	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000325192	Transcript	.	.	ENSG00000179476	19834	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	deleterious_low_confidence(0.04)	.	CN028_HUMAN	C14orf28	HGNC	.	.	UPI000015FBE3	SNV	C14orf28,missense_variant,p.Gly190Ala,ENST00000557112,;C14orf28,missense_variant,p.Gly220Ala,ENST00000325192,;RP11-857B24.5,intron_variant,,ENST00000555157,;C14orf28,non_coding_transcript_exon_variant,,ENST00000553841,;C14orf28,non_coding_transcript_exon_variant,,ENST00000555826,;	934	95	89	SUCCESS
C14orf183	0	.	GRCh37	14	50550627	50550627	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	42	128	0	ENST00000305273.1:c.717A>G	p.Thr239=	p.T239=	ENST00000305273	NM_001014830.1	239	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS45101.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGTGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000303234	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000305273	Transcript	.	.	ENSG00000168260	27285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN183_HUMAN	C14orf183	HGNC	.	.	UPI00000733F8	SNV	C14orf183,synonymous_variant,p.%3D,ENST00000305273,;RP11-58E21.7,intron_variant,,ENST00000556019,;RP11-58E21.5,intron_variant,,ENST00000603228,;Y_RNA,upstream_gene_variant,,ENST00000515983,;	717	128	151	SUCCESS
FUT8	2530	.	GRCh37	14	66082780	66082780	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	43	134	0	ENST00000360689.5:c.288G>A	p.Gln96=	p.Q96=	ENST00000360689	NM_178155.2	96	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS9775.1	288	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGATTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13132,PIRSF_domain:PIRSF000472	.	.	ENSP00000353910	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000360689	Transcript	.	.	ENSG00000033170	4019	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT8_HUMAN	FUT8	HGNC	Q546E0_HUMAN,G3V5Z4_HUMAN,G3V5E3_HUMAN,G3V530_HUMAN,G3V509_HUMAN,G3V4A8_HUMAN	.	UPI000000DCC9	SNV	FUT8,synonymous_variant,p.%3D,ENST00000394585,;FUT8,synonymous_variant,p.%3D,ENST00000360689,;FUT8,synonymous_variant,p.%3D,ENST00000394586,;FUT8,5_prime_UTR_variant,,ENST00000557164,;FUT8,5_prime_UTR_variant,,ENST00000358307,;FUT8,synonymous_variant,p.%3D,ENST00000342677,;	2015	134	136	SUCCESS
BNC1	646	.	GRCh37	15	83932609	83932609	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs144958076	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	38	145	0	ENST00000345382.2:c.1394G>C	p.Gly465Ala	p.G465A	ENST00000345382	NM_001717.3	465	gGc/gCc	0	A:0.0005	A:0.0008	.	A:0	.	G	G/A	protein_coding	YES	CCDS10324.1	1394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCCTTTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR15021:SF1,hmmpanther:PTHR15021	A:0	A:0	ENSP00000307041	A:0	4/5	.	.	.	.	.	.	.	.	rs144958076	4/5	PASS	ENST00000345382	Transcript	.	A:0.0002	ENSG00000169594	1081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	A:0	tolerated(0.65)	.	BNC1_HUMAN	BNC1	HGNC	.	.	UPI0000126796	SNV	BNC1,missense_variant,p.Gly465Ala,ENST00000345382,;BNC1,missense_variant,p.Gly458Ala,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;	1480	145	131	SUCCESS
SPNS1	83985	.	GRCh37	16	28995279	28995279	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs1384165722	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	11	0	ENST00000311008.11:c.1492+1G>A		p.X498_splice	ENST00000311008	NM_032038.2	498		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10646.1	.	RADIA|MUTECT|MUSE	.	GCAGGGTCAGT	NONE	.	.	.	.	.	ENSP00000309945	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311008	Transcript	.	.	ENSG00000169682	30621	.	.	HIGH	11/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPNS1_HUMAN	SPNS1	HGNC	H3BT44_HUMAN,H3BP14_HUMAN	.	UPI000004DB99	SNV	SPNS1,splice_donor_variant,,ENST00000311008,;SPNS1,splice_donor_variant,,ENST00000352260,;SPNS1,splice_donor_variant,,ENST00000565975,;SPNS1,splice_donor_variant,,ENST00000334536,;SPNS1,splice_donor_variant,,ENST00000323081,;SPNS1,splice_donor_variant,,ENST00000568829,;SPNS1,missense_variant,p.Gly264Asp,ENST00000564476,;SPNS1,intron_variant,,ENST00000566059,;SPNS1,downstream_gene_variant,,ENST00000567771,;LAT,upstream_gene_variant,,ENST00000395461,;LAT,upstream_gene_variant,,ENST00000354453,;LAT,upstream_gene_variant,,ENST00000564277,;LAT,upstream_gene_variant,,ENST00000570232,;LAT,upstream_gene_variant,,ENST00000395456,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000360872,;LAT,upstream_gene_variant,,ENST00000566177,;LAT,upstream_gene_variant,,ENST00000454369,;SPNS1,downstream_gene_variant,,ENST00000561868,;LAT,upstream_gene_variant,,ENST00000563964,;RP11-264B17.3,splice_donor_variant,,ENST00000569969,;LAT,upstream_gene_variant,,ENST00000562472,;LAT,upstream_gene_variant,,ENST00000566270,;LAT,upstream_gene_variant,,ENST00000564447,;SPNS1,downstream_gene_variant,,ENST00000568900,;LAT,upstream_gene_variant,,ENST00000568440,;LAT,upstream_gene_variant,,ENST00000568899,;LAT,upstream_gene_variant,,ENST00000562701,;	.	11	15	SUCCESS
CES2	8824	.	GRCh37	16	66976600	66976600	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs763373985	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	84	0	ENST00000317091.4:c.1524G>A	p.Trp508Ter	p.W508*	ENST00000317091	NM_003869.5	508	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS10825.1	1524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGCTCAA	NONE	byFrequency	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF148,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000317842	.	10/12	.	.	.	.	.	.	.	.	rs763373985	10/12	PASS	ENST00000317091	Transcript	.	.	ENSG00000172831	1864	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EST2_HUMAN	CES2	HGNC	J3QLP1_HUMAN,J3QKN7_HUMAN	.	UPI0000074733	SNV	CES2,stop_gained,p.Trp163Ter,ENST00000564420,;CES2,stop_gained,p.Trp508Ter,ENST00000317091,;CES2,stop_gained,p.Trp508Ter,ENST00000417689,;CES2,downstream_gene_variant,,ENST00000561697,;RP11-361L15.4,upstream_gene_variant,,ENST00000566869,;CES2,3_prime_UTR_variant,,ENST00000568470,;CES2,non_coding_transcript_exon_variant,,ENST00000568347,;CES2,non_coding_transcript_exon_variant,,ENST00000567128,;CES2,non_coding_transcript_exon_variant,,ENST00000563988,;CES2,downstream_gene_variant,,ENST00000561843,;CES2,downstream_gene_variant,,ENST00000570032,;CES2,downstream_gene_variant,,ENST00000566359,;	2508	84	79	SUCCESS
HYDIN	54768	.	GRCh37	16	70902688	70902688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	44	0	ENST00000393567.2:c.11095G>T	p.Gly3699Cys	p.G3699C	ENST00000393567	NM_001270974.1	3699	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS59269.1	11095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCATCT	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	66/86	.	.	.	.	.	.	.	.	.	66/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Gly3699Cys,ENST00000393567,;AC027281.1,downstream_gene_variant,,ENST00000411384,;SNORD112,downstream_gene_variant,,ENST00000515891,;HYDIN,upstream_gene_variant,,ENST00000378856,;	11246	44	40	SUCCESS
WFDC1	58189	.	GRCh37	16	84358060	84358060	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	77	0	ENST00000219454.5:c.598T>C	p.Tyr200His	p.Y200H	ENST00000219454	NM_001282467.1	200	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS10946.1	598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATATCCA	NONE	.	.	hmmpanther:PTHR14308	.	.	ENSP00000219454	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000219454	Transcript	.	.	ENSG00000103175	15466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.05)	.	WFDC1_HUMAN	WFDC1	HGNC	.	.	UPI0000138EFA	SNV	WFDC1,missense_variant,p.Tyr200His,ENST00000219454,;WFDC1,missense_variant,p.Tyr200His,ENST00000568638,;WFDC1,non_coding_transcript_exon_variant,,ENST00000567056,;	924	77	72	SUCCESS
ZNF469	84627	.	GRCh37	16	88495698	88495698	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	86	0	ENST00000437464.1:c.1820C>G	p.Ser607Cys	p.S607C	ENST00000437464	NM_001127464.1	607	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS45544.1	1820	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCCCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Ser607Cys,ENST00000565624,;ZNF469,missense_variant,p.Ser607Cys,ENST00000437464,;	1820	86	78	SUCCESS
ABAT	18	.	GRCh37	16	8866725	8866725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	91	0	ENST00000268251.8:c.905A>G	p.Asn302Ser	p.N302S	ENST00000268251	NM_020686.5	302	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS10534.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAACCACG	NONE	.	.	hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF6,Gene3D:3.40.640.10,Pfam_domain:PF00202,TIGRFAM_domain:TIGR00699,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000379845	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000396600	Transcript	.	.	ENSG00000183044	23	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	deleterious(0.03)	.	GABT_HUMAN	ABAT	HGNC	H3BRJ1_HUMAN,H3BP74_HUMAN	.	UPI000006D4FC	SNV	ABAT,missense_variant,p.Asn302Ser,ENST00000425191,;ABAT,missense_variant,p.Asn302Ser,ENST00000396600,;ABAT,missense_variant,p.Asn317Ser,ENST00000567812,;ABAT,missense_variant,p.Asn302Ser,ENST00000569156,;ABAT,missense_variant,p.Asn302Ser,ENST00000268251,;ABAT,3_prime_UTR_variant,,ENST00000566590,;ABAT,downstream_gene_variant,,ENST00000564453,;	1843	91	89	SUCCESS
PIEZO1	9780	.	GRCh37	16	88802619	88802619	+	synonymous_variant	Silent	SNP	G	G	T	rs749252740	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	76	0	ENST00000301015.9:c.1494C>A	p.Pro498=	p.P498=	ENST00000301015	NM_001142864.2	498	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54058.1	1494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGGGGCC	NONE	byFrequency	.	hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40	.	.	ENSP00000301015	.	12/51	.	.	.	.	.	.	.	.	rs749252740	12/51	PASS	ENST00000301015	Transcript	.	.	ENSG00000103335	28993	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIEZ1_HUMAN	PIEZO1	HGNC	.	.	UPI0001B300F3	SNV	PIEZO1,synonymous_variant,p.%3D,ENST00000301015,;RP5-1142A6.2,intron_variant,,ENST00000440406,;RP5-1142A6.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;	1741	76	76	SUCCESS
PIEZO1	9780	.	GRCh37	16	88802620	88802620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	75	0	ENST00000301015.9:c.1493C>A	p.Pro498His	p.P498H	ENST00000301015	NM_001142864.2	498	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS54058.1	1493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGGGGCCC	NONE	.	.	hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40	.	.	ENSP00000301015	.	12/51	.	.	.	.	.	.	.	.	.	12/51	PASS	ENST00000301015	Transcript	.	.	ENSG00000103335	28993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	tolerated(0.54)	.	PIEZ1_HUMAN	PIEZO1	HGNC	.	.	UPI0001B300F3	SNV	PIEZO1,missense_variant,p.Pro498His,ENST00000301015,;RP5-1142A6.2,intron_variant,,ENST00000440406,;RP5-1142A6.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;	1740	75	77	SUCCESS
TLK2	11011	.	GRCh37	17	60637386	60637386	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	297	109	395	0	ENST00000326270.9:c.730G>A	p.Asp244Asn	p.D244N	ENST00000326270	NM_001284333.1	244	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS11633.1	730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGATTTG	NONE	.	.	hmmpanther:PTHR22974:SF20,hmmpanther:PTHR22974	.	.	ENSP00000275780	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000346027	Transcript	.	.	ENSG00000146872	11842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	tolerated(0.05)	.	TLK2_HUMAN	TLK2	HGNC	J3QS73_HUMAN,J3QQN4_HUMAN,J3QLK5_HUMAN,J3KST4_HUMAN	.	UPI00001B6B0F	SNV	TLK2,missense_variant,p.Asp35Asn,ENST00000578697,;TLK2,missense_variant,p.Asp174Asn,ENST00000580705,;TLK2,missense_variant,p.Asp180Asn,ENST00000581041,;TLK2,missense_variant,p.Asp212Asn,ENST00000343388,;TLK2,missense_variant,p.Asp95Asn,ENST00000582809,;TLK2,missense_variant,p.Asp212Asn,ENST00000542523,;TLK2,missense_variant,p.Asp244Asn,ENST00000346027,;TLK2,missense_variant,p.Asp244Asn,ENST00000326270,;TLK2,non_coding_transcript_exon_variant,,ENST00000581286,;	1001	395	406	SUCCESS
CSHL1	1444	.	GRCh37	17	61987600	61987600	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	16	130	0	ENST00000309894.5:c.393C>A	p.Asn131Lys	p.N131K	ENST00000309894	NM_022579.1	131	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS11652.1	393	RADIA|MUTECT|MUSE	.	ACCAGGTTGTT	NONE	.	.	hmmpanther:PTHR11417:SF32,hmmpanther:PTHR11417,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266	.	.	ENSP00000309524	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000309894	Transcript	.	.	ENSG00000204414	2442	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.055)	.	tolerated(0.06)	.	CSHL_HUMAN	CSHL1	HGNC	I6L999_HUMAN	.	UPI00001602B9	SNV	CSHL1,missense_variant,p.Asn69Lys,ENST00000259003,;CSHL1,missense_variant,p.Asn48Lys,ENST00000561003,;CSHL1,missense_variant,p.Asn37Lys,ENST00000450719,;CSHL1,missense_variant,p.Asn131Lys,ENST00000309894,;CSHL1,missense_variant,p.Asn37Lys,ENST00000346606,;CSHL1,missense_variant,p.Asn48Lys,ENST00000438387,;CSHL1,3_prime_UTR_variant,,ENST00000392824,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	393	130	134	SUCCESS
HELZ	9931	.	GRCh37	17	65116628	65116628	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	43	138	0	ENST00000358691.5:c.3731G>T	p.Gly1244Val	p.G1244V	ENST00000358691	NM_014877.3	1244	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42374.1	3731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTCCATGT	NONE	.	.	hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887	.	.	ENSP00000351524	.	27/33	.	.	.	.	.	.	.	.	.	27/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	deleterious_low_confidence(0.01)	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Gly1245Val,ENST00000580168,;HELZ,missense_variant,p.Gly1244Val,ENST00000358691,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	3898	138	185	SUCCESS
ST6GALNAC1	55808	.	GRCh37	17	74625607	74625607	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751250074	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	44	155	0	ENST00000156626.7:c.318G>T	p.Gln106His	p.Q106H	ENST00000156626	NM_018414.3	106	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS11748.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCTGGTT	BUFFER|p.P108P|c.324G>A|3	.	.	hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713	.	.	ENSP00000156626	.	2/9	.	.	.	.	.	.	.	.	rs751250074	2/9	PASS	ENST00000156626	Transcript	.	.	ENSG00000070526	23614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	.	.	SIA7A_HUMAN	ST6GALNAC1	HGNC	.	.	UPI0000001C00	SNV	ST6GALNAC1,missense_variant,p.Gln106His,ENST00000156626,;ST6GALNAC1,upstream_gene_variant,,ENST00000590784,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000590878,;ST6GALNAC1,upstream_gene_variant,,ENST00000589004,;ST6GALNAC1,downstream_gene_variant,,ENST00000590915,;ST6GALNAC1,missense_variant,p.Gln106His,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000589813,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,upstream_gene_variant,,ENST00000585633,;ST6GALNAC1,upstream_gene_variant,,ENST00000588375,;	518	155	156	SUCCESS
DNAH2	146754	.	GRCh37	17	7636408	7636408	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763148087	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	64	0	ENST00000389173.2:c.403C>A	p.Gln135Lys	p.Q135K	ENST00000389173	NM_020877.2	135	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS32551.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCAGAAC	NONE	byFrequency	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	.	.	ENSP00000458355	.	5/86	.	.	.	.	.	.	.	.	rs763148087	5/86	PASS	ENST00000572933	Transcript	.	.	ENSG00000183914	2948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.179)	.	.	.	DYH2_HUMAN	DNAH2	HGNC	.	.	UPI00005B2F0D	SNV	DNAH2,missense_variant,p.Gln135Lys,ENST00000082259,;DNAH2,missense_variant,p.Gln135Lys,ENST00000389173,;DNAH2,missense_variant,p.Gln135Lys,ENST00000570791,;DNAH2,missense_variant,p.Gln135Lys,ENST00000572933,;	1863	64	62	SUCCESS
MYOM1	8736	.	GRCh37	18	3067314	3067314	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	22	90	0	ENST00000356443.4:c.5004G>A	p.Glu1668=	p.E1668=	ENST00000356443	NM_019856.1	1668	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS45824.1	5004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCTCCTC	NONE	.	.	.	.	.	ENSP00000348821	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,synonymous_variant,p.%3D,ENST00000356443,;MYOM1,synonymous_variant,p.%3D,ENST00000400569,;MYOM1,synonymous_variant,p.%3D,ENST00000261606,;MYOM1,non_coding_transcript_exon_variant,,ENST00000581804,;	5338	90	99	SUCCESS
LPHN1	0	.	GRCh37	19	14271099	14271099	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	72	0	ENST00000340736.6:c.1640G>A	p.Gly547Glu	p.G547E	ENST00000340736	NM_001008701.2	547	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS32928.1	1640	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCCACTC	NONE	.	.	Pfam_domain:PF12003,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF62	.	.	ENSP00000340688	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000340736	Transcript	.	.	ENSG00000072071	20973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0.02)	.	LPHN1_HUMAN	LPHN1	HGNC	.	.	UPI000005046A	SNV	LPHN1,missense_variant,p.Gly79Glu,ENST00000589616,;LPHN1,missense_variant,p.Gly542Glu,ENST00000361434,;LPHN1,missense_variant,p.Gly547Glu,ENST00000340736,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000592086,;CTB-55O6.12,downstream_gene_variant,,ENST00000588658,;LPHN1,downstream_gene_variant,,ENST00000591528,;LPHN1,non_coding_transcript_exon_variant,,ENST00000588677,;	1938	72	60	SUCCESS
NWD1	284434	.	GRCh37	19	16918475	16918475	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758051323	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	32	91	0	ENST00000552788.1:c.3815C>T	p.Thr1272Met	p.T1272M	ENST00000552788		1272	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS32945.2	3815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACGGGCC	SITE|p.T1137M|c.3410C>T|4,SITE|p.T1272M|c.3815C>T|4	byFrequency	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF273,hmmpanther:PTHR22847	.	.	ENSP00000428579	.	18/19	.	.	.	.	.	.	.	.	rs758051323,COSM992559,COSM992558	18/19	PASS	ENST00000524140	Transcript	.	.	ENSG00000188039	27619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.921)	.	deleterious(0.03)	0,1,1	NWD1_HUMAN	NWD1	HGNC	.	.	UPI0000D6173E	SNV	NWD1,missense_variant,p.Thr1137Met,ENST00000339803,;NWD1,missense_variant,p.Thr1272Met,ENST00000524140,;NWD1,missense_variant,p.Thr1272Met,ENST00000552788,;NWD1,missense_variant,p.Thr1272Met,ENST00000379808,;NWD1,missense_variant,p.Thr1230Met,ENST00000549814,;NWD1,missense_variant,p.Thr1066Met,ENST00000523826,;NWD1,3_prime_UTR_variant,,ENST00000438489,;NWD1,3_prime_UTR_variant,,ENST00000518676,;	4233	91	130	SUCCESS
KIAA0355	0	.	GRCh37	19	34791601	34791601	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764020643	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	68	1	ENST00000299505.6:c.223G>T	p.Asp75Tyr	p.D75Y	ENST00000299505	NM_014686.3	75	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS12436.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCGACATC	NONE	.	.	hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	.	ENSP00000299505	.	2/14	.	.	.	.	.	.	.	.	rs764020643,COSM4076831	2/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	0,1	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,missense_variant,p.Asp75Tyr,ENST00000299505,;KIAA0355,intron_variant,,ENST00000588338,;KIAA0355,intron_variant,,ENST00000588470,;KIAA0355,downstream_gene_variant,,ENST00000589583,;KIAA0355,downstream_gene_variant,,ENST00000592124,;KIAA0355,downstream_gene_variant,,ENST00000585833,;RPL29P33,upstream_gene_variant,,ENST00000431093,;RPL29P33,upstream_gene_variant,,ENST00000587474,;	1096	69	63	SUCCESS
LRFN3	79414	.	GRCh37	19	36431219	36431219	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	26	0	ENST00000246529.3:c.892G>A	p.Val298Met	p.V298M	ENST00000246529	NM_024509.1	298	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS12483.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGTGACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24373:SF1,hmmpanther:PTHR24373,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF52058,Superfamily_domains:SSF48726	.	.	ENSP00000466989	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000588831	Transcript	.	.	ENSG00000126243	28370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0.01)	.	LRFN3_HUMAN	LRFN3	HGNC	.	.	UPI0000070E5A	SNV	LRFN3,missense_variant,p.Val298Met,ENST00000588831,;LRFN3,missense_variant,p.Val298Met,ENST00000246529,;LRFN3,downstream_gene_variant,,ENST00000585876,;LRFN3,downstream_gene_variant,,ENST00000587257,;	1946	26	23	SUCCESS
ATCAY	85300	.	GRCh37	19	3908298	3908298	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777360536	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	53	194	0	ENST00000450849.2:c.577G>A	p.Val193Ile	p.V193I	ENST00000450849	NM_033064.4	193	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS45923.1	577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGTCTTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF52087,SMART_domains:SM00516,Pfam_domain:PF13716,hmmpanther:PTHR12112,PROSITE_profiles:PS50191	.	.	ENSP00000390941	.	6/13	.	.	.	.	.	.	.	.	rs777360536	6/13	PASS	ENST00000450849	Transcript	1	.	ENSG00000167654	779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	ATCAY_HUMAN	ATCAY	HGNC	M0R197_HUMAN	.	UPI000006DE3B	SNV	ATCAY,missense_variant,p.Val199Ile,ENST00000398448,;ATCAY,missense_variant,p.Val193Ile,ENST00000600960,;ATCAY,missense_variant,p.Val193Ile,ENST00000301260,;ATCAY,missense_variant,p.Val193Ile,ENST00000450849,;ATCAY,downstream_gene_variant,,ENST00000598136,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	1044	194	186	SUCCESS
ZNF234	10780	.	GRCh37	19	44648772	44648772	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	70	0	ENST00000426739.2:c.-14A>C		p.*5*	ENST00000426739	NM_006630.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46101.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAAACAG	NONE	.	.	.	.	.	ENSP00000400878	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000426739	Transcript	.	.	ENSG00000263002	13027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN234_HUMAN	ZNF234	HGNC	Q86WM3_HUMAN,Q86WM2_HUMAN	.	UPI0000070C95	SNV	ZNF234,5_prime_UTR_variant,,ENST00000592437,;ZNF234,5_prime_UTR_variant,,ENST00000426739,;ZNF234,intron_variant,,ENST00000590748,;ZNF234,5_prime_UTR_variant,,ENST00000590795,;	245	70	68	SUCCESS
ERCC2	2068	.	GRCh37	19	45856053	45856053	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	73	0	ENST00000391945.4:c.1853T>G	p.Val618Gly	p.V618G	ENST00000391945	NM_000400.3	618	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS33049.1	1853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGACGGCC	NONE	.	.	hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Pfam_domain:PF13307,TIGRFAM_domain:TIGR00604,SMART_domains:SM00491,Superfamily_domains:SSF52540	.	.	ENSP00000375809	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000391945	Transcript	1	.	ENSG00000104884	3434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	ERCC2_HUMAN	ERCC2	HGNC	K7EIT8_HUMAN,A8MX75_HUMAN	.	UPI0000139012	SNV	ERCC2,missense_variant,p.Val594Gly,ENST00000391941,;ERCC2,missense_variant,p.Val540Gly,ENST00000391944,;ERCC2,missense_variant,p.Val618Gly,ENST00000391945,;KLC3,downstream_gene_variant,,ENST00000470402,;KLC3,downstream_gene_variant,,ENST00000589373,;KLC3,downstream_gene_variant,,ENST00000589837,;KLC3,downstream_gene_variant,,ENST00000391946,;KLC3,downstream_gene_variant,,ENST00000585434,;ERCC2,non_coding_transcript_exon_variant,,ENST00000588652,;ERCC2,non_coding_transcript_exon_variant,,ENST00000391942,;ERCC2,downstream_gene_variant,,ENST00000587376,;	1931	73	61	SUCCESS
CCDC8	83987	.	GRCh37	19	46915578	46915578	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	19	0	ENST00000307522.3:c.490C>T	p.Pro164Ser	p.P164S	ENST00000307522	NM_032040.4	164	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12685.1	490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGCTGCT	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,missense_variant,p.Pro164Ser,ENST00000307522,;	1264	19	25	SUCCESS
SIGLEC10	89790	.	GRCh37	19	51916963	51916963	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	68	0	ENST00000339313.5:c.1821+3G>A		p.X607_splice	ENST00000339313		607		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12832.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCACCAG	NONE	.	.	.	.	.	ENSP00000348646	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356298	Transcript	.	.	ENSG00000142512	15620	.	.	LOW	10/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIG10_HUMAN	SIGLEC10	HGNC	.	.	UPI0000047E1A	SNV	SIGLEC10,splice_region_variant,,ENST00000436984,;SIGLEC10,splice_region_variant,,ENST00000525998,;SIGLEC10,splice_region_variant,,ENST00000432469,;SIGLEC10,splice_region_variant,,ENST00000339313,;SIGLEC10,splice_region_variant,,ENST00000442846,;SIGLEC10,splice_region_variant,,ENST00000353836,;SIGLEC10,splice_region_variant,,ENST00000356298,;SIGLEC10,splice_region_variant,,ENST00000441969,;SIGLEC10,splice_region_variant,,ENST00000439889,;SIGLEC10,downstream_gene_variant,,ENST00000530476,;SIGLEC10,downstream_gene_variant,,ENST00000529627,;CTD-2616J11.3,upstream_gene_variant,,ENST00000532473,;CTD-2616J11.2,upstream_gene_variant,,ENST00000532688,;CTD-2616J11.2,upstream_gene_variant,,ENST00000526996,;SIGLEC10,splice_region_variant,,ENST00000357375,;SIGLEC10,downstream_gene_variant,,ENST00000524527,;	.	68	52	SUCCESS
ZSCAN5A	79149	.	GRCh37	19	56735000	56735000	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	42	0	ENST00000391713.1:c.588G>C	p.Gln196His	p.Q196H	ENST00000391713	NM_024303.1	196	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS12941.1	588	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCACCTGCCT	NONE	.	.	hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032	.	.	ENSP00000467631	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000587340	Transcript	.	.	ENSG00000131848	23710	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	ZSA5A_HUMAN	ZSCAN5A	HGNC	K7ESN6_HUMAN,K7ESE4_HUMAN,K7EQW6_HUMAN,K7EN85_HUMAN,K7EMC4_HUMAN,K7EIX9_HUMAN	.	UPI0000072024	SNV	ZSCAN5A,missense_variant,p.Gln50His,ENST00000587492,;ZSCAN5A,missense_variant,p.Gln50His,ENST00000593106,;ZSCAN5A,missense_variant,p.Gln196His,ENST00000592355,;ZSCAN5A,missense_variant,p.Gln196His,ENST00000587340,;ZSCAN5A,missense_variant,p.Gln196His,ENST00000391713,;ZSCAN5A,missense_variant,p.Gln79His,ENST00000254165,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;	1284	42	43	SUCCESS
MUC16	94025	.	GRCh37	19	9074794	9074794	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	131	0	ENST00000397910.4:c.12652C>T	p.Pro4218Ser	p.P4218S	ENST00000397910	NM_024690.2	4218	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS54212.1	12652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGTAAAC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Pro4218Ser,ENST00000397910,;	12856	131	120	SUCCESS
FRRS1	391059	.	GRCh37	1	100214255	100214256	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	254	65	200	0	ENST00000287474.5:c.69dup	p.Pro24SerfsTer15	p.P24Sfs*15	ENST00000287474	NM_001013660.2	23	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS30780.1	69-70	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTGGGATAAT	BUFFER|p.A21T|c.61G>A|3	.	.	PROSITE_profiles:PS51019,hmmpanther:PTHR23130:SF6,hmmpanther:PTHR23130	.	.	ENSP00000287474	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000287474	Transcript	.	.	ENSG00000156869	27622	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FRRS1_HUMAN	FRRS1	HGNC	.	.	UPI000042037B	insertion	FRRS1,frameshift_variant,p.Pro24SerfsTer15,ENST00000414213,;FRRS1,frameshift_variant,p.Pro24SerfsTer15,ENST00000287474,;FRRS1,non_coding_transcript_exon_variant,,ENST00000370176,;	671-672	200	319	SUCCESS
ATP1A1	476	.	GRCh37	1	116932324	116932324	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	60	0	ENST00000295598.5:c.1018G>A	p.Val340Ile	p.V340I	ENST00000295598	NM_000701.7	340	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS53351.1	1018	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGTCACG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF222,hmmpanther:PTHR24093,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Superfamily_domains:0049473	.	.	ENSP00000445306	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	tolerated(0.06)	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,missense_variant,p.Val340Ile,ENST00000537345,;ATP1A1,missense_variant,p.Val340Ile,ENST00000295598,;ATP1A1,missense_variant,p.Val309Ile,ENST00000369496,;ATP1A1,downstream_gene_variant,,ENST00000418797,;ATP1A1,downstream_gene_variant,,ENST00000369494,;ATP1A1,non_coding_transcript_exon_variant,,ENST00000491156,;ATP1A1OS,downstream_gene_variant,,ENST00000608511,;ATP1A1,downstream_gene_variant,,ENST00000463382,;ATP1A1,downstream_gene_variant,,ENST00000488733,;	1381	60	91	SUCCESS
RUSC1	23623	.	GRCh37	1	155292686	155292686	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	72	0	ENST00000368352.5:c.1122C>A	p.Leu374=	p.L374=	ENST00000368352	NM_001105203.1	374	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS41410.1	1122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTCCGGTC	NONE	.	.	hmmpanther:PTHR15591	.	.	ENSP00000357336	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,synonymous_variant,p.%3D,ENST00000368352,;RUSC1,synonymous_variant,p.%3D,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,intron_variant,,ENST00000450199,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,upstream_gene_variant,,ENST00000543656,;RUSC1-AS1,upstream_gene_variant,,ENST00000446880,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	1273	72	91	SUCCESS
GON4L	54856	.	GRCh37	1	155736387	155736387	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	37	110	0	ENST00000368331.1:c.2877C>T	p.Asp959=	p.D959=	ENST00000368331	NM_001037533.1	959	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS44242.1	2877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGTCTTT	NONE	.	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF10	.	.	ENSP00000396117	.	21/32	.	.	.	.	.	.	.	.	.	21/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,synonymous_variant,p.%3D,ENST00000437809,;GON4L,synonymous_variant,p.%3D,ENST00000361040,;GON4L,synonymous_variant,p.%3D,ENST00000368331,;GON4L,synonymous_variant,p.%3D,ENST00000271883,;GON4L,non_coding_transcript_exon_variant,,ENST00000490801,;GON4L,non_coding_transcript_exon_variant,,ENST00000497369,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,downstream_gene_variant,,ENST00000496021,;	3000	110	174	SUCCESS
OR10K2	391107	.	GRCh37	1	158389726	158389726	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	301	10	176	0	ENST00000314902.2:c.931C>A	p.Leu311Met	p.L311M	ENST00000314902	NM_001004476.1	311	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS30896.1	931	MUTECT|MUSE	.	CAACAGGGAAA	BUFFER|p.S310F|c.929C>T|3	.	.	.	.	.	ENSP00000324251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314902	Transcript	.	.	ENSG00000180708	14826	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	tolerated(0.05)	.	O10K2_HUMAN	OR10K2	HGNC	.	.	UPI0000041BC2	SNV	OR10K2,missense_variant,p.Leu311Met,ENST00000314902,;	931	176	311	SUCCESS
HMCN1	83872	.	GRCh37	1	185985310	185985310	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	104	129	0	ENST00000271588.4:c.5130C>A	p.Tyr1710Ter	p.Y1710*	ENST00000271588	NM_031935.2	1710	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS30956.1	5130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACATATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	32/107	.	.	.	.	.	.	.	.	.	32/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,stop_gained,p.Tyr1710Ter,ENST00000367492,;HMCN1,stop_gained,p.Tyr1710Ter,ENST00000271588,;	5359	129	193	SUCCESS
CFH	3075	.	GRCh37	1	196684870	196684870	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	77	140	0	ENST00000367429.4:c.1667A>T	p.Asn556Ile	p.N556I	ENST00000367429	NM_000186.3	556	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS1385.1	1667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAATGGTT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356399	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000367429	Transcript	.	.	ENSG00000000971	4883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.56)	.	deleterious(0.02)	.	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	SNV	CFH,missense_variant,p.Asn556Ile,ENST00000367429,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	1907	140	162	SUCCESS
USH2A	7399	.	GRCh37	1	215932021	215932021	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	72	0	ENST00000307340.3:c.11305A>T	p.Met3769Leu	p.M3769L	ENST00000307340	NM_206933.2	3769	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS31025.1	11305	RADIA|MUTECT|MUSE|VARSCANS	.	TGACATAGGTG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	58/72	.	.	.	.	.	.	.	.	.	58/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Met3769Leu,ENST00000366943,;USH2A,missense_variant,p.Met3769Leu,ENST00000307340,;	11692	72	114	SUCCESS
HSPG2	3339	.	GRCh37	1	22156478	22156478	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	rs776619445	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	86	0	ENST00000374695.3:c.11770+8G>T		p.X3924_splice	ENST00000374695	NM_005529.5	3924		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30625.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCCCCTC	NONE	.	.	.	.	.	ENSP00000363827	.	.	.	.	.	.	.	.	.	.	rs776619445	.	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	LOW	86/96	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,splice_region_variant,,ENST00000374695,;LDLRAD2,downstream_gene_variant,,ENST00000344642,;HSPG2,downstream_gene_variant,,ENST00000426143,;HSPG2,non_coding_transcript_exon_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000469378,;	.	86	82	SUCCESS
DNAH14	127602	.	GRCh37	1	225446907	225446907	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	483	117	389	0	ENST00000445597.2:c.5585-5977G>T		p.*1862*	ENST00000445597		131		0	.	.	.	.	.	T	G/V	protein_coding	.	.	7091	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGTTCAA	NONE	.	.	hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000414402	.	46/84	.	.	.	.	.	.	.	.	.	46/84	PASS	ENST00000430092	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	.	.	DYH14_HUMAN	DNAH14	HGNC	C9JU64_HUMAN	.	UPI000192C36D	SNV	DNAH14,missense_variant,p.Gly2364Val,ENST00000430092,;DNAH14,missense_variant,p.Gly136Val,ENST00000450490,;DNAH14,missense_variant,p.Gly2364Val,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,missense_variant,p.Gly131Val,ENST00000327794,;	7306	389	600	SUCCESS
OBSCN	84033	.	GRCh37	1	228560355	228560355	+	synonymous_variant	Silent	SNP	C	C	T	rs372263588	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	189	164	269	0	ENST00000422127.1:c.21876C>T	p.Ala7292=	p.A7292=	ENST00000422127	NM_001098623.2	7292	gcC/gcT	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS59204.1	24747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCGACAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17	.	T:0.0001	ENSP00000455507	.	105/116	.	.	.	.	.	.	.	.	rs372263588	105/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000441106,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	24821	269	353	SUCCESS
PPT1	5538	.	GRCh37	1	40539787	40539787	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	76	0	ENST00000433473.3:c.867T>C	p.His289=	p.H289=	ENST00000433473	NM_000310.3	289	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS447.1	867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGATGGTC	NONE	.	.	Prints_domain:PR00414,Superfamily_domains:SSF53474,Pfam_domain:PF02089,Gene3D:3.40.50.1820,hmmpanther:PTHR11247,hmmpanther:PTHR11247:SF8	.	.	ENSP00000394863	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000433473	Transcript	.	.	ENSG00000131238	9325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPT1_HUMAN	PPT1	HGNC	E9PSE5_HUMAN,E9PP28_HUMAN	.	UPI0000132113	SNV	PPT1,synonymous_variant,p.%3D,ENST00000530076,;PPT1,synonymous_variant,p.%3D,ENST00000449045,;PPT1,synonymous_variant,p.%3D,ENST00000433473,;PPT1,synonymous_variant,p.%3D,ENST00000439754,;CAP1,downstream_gene_variant,,ENST00000372805,;CAP1,downstream_gene_variant,,ENST00000340450,;CAP1,downstream_gene_variant,,ENST00000372802,;CAP1,downstream_gene_variant,,ENST00000372798,;CAP1,downstream_gene_variant,,ENST00000372797,;PPT1,downstream_gene_variant,,ENST00000372779,;CAP1,downstream_gene_variant,,ENST00000414893,;CAP1,downstream_gene_variant,,ENST00000372792,;PPT1,downstream_gene_variant,,ENST00000527311,;PPT1,non_coding_transcript_exon_variant,,ENST00000372775,;CAP1,downstream_gene_variant,,ENST00000461993,;CAP1,downstream_gene_variant,,ENST00000479759,;CAP1,downstream_gene_variant,,ENST00000494114,;PPT1,synonymous_variant,p.%3D,ENST00000529905,;PPT1,3_prime_UTR_variant,,ENST00000530704,;	1332	76	72	SUCCESS
CTPS1	1503	.	GRCh37	1	41457492	41457492	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	45	128	0	ENST00000372616.1:c.695T>C	p.Met232Thr	p.M232T	ENST00000372616		232	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS459.1	695	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATGTTCT	NONE	.	.	HAMAP:MF_01227,hmmpanther:PTHR11550,hmmpanther:PTHR11550:SF3,Pfam_domain:PF06418,TIGRFAM_domain:TIGR00337,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000361704	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000372621	Transcript	.	.	ENSG00000171793	2519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.22)	.	PYRG1_HUMAN	CTPS1	HGNC	B4E1E0_HUMAN,B4DR64_HUMAN	.	UPI0000132D63	SNV	CTPS1,start_lost,p.Met1?,ENST00000541520,;CTPS1,missense_variant,p.Met239Thr,ENST00000543104,;CTPS1,missense_variant,p.Met232Thr,ENST00000372616,;CTPS1,missense_variant,p.Met232Thr,ENST00000372621,;CTPS1,non_coding_transcript_exon_variant,,ENST00000480420,;CTPS1,non_coding_transcript_exon_variant,,ENST00000479480,;CTPS1,upstream_gene_variant,,ENST00000463285,;	1203	128	143	SUCCESS
PAX1	5075	.	GRCh37	20	21687274	21687274	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	40	0	ENST00000398485.2:c.485C>T	p.Pro162Leu	p.P162L	ENST00000398485	NM_006192.4	162	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS13146.2	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCCGGGG	NONE	.	.	PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262,Pfam_domain:PF00292,Gene3D:1.10.10.10,SMART_domains:SM00351,Superfamily_domains:SSF46689,Prints_domain:PR00027	.	.	ENSP00000381499	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000398485	Transcript	1	.	ENSG00000125813	8615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PAX1_HUMAN	PAX1	HGNC	.	.	UPI000179A786	SNV	PAX1,missense_variant,p.Pro138Leu,ENST00000444366,;PAX1,missense_variant,p.Pro162Leu,ENST00000398485,;PAX1,intron_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	539	40	47	SUCCESS
XPNPEP3	63929	.	GRCh37	22	41320402	41320416	+	inframe_deletion	In_Frame_Del	DEL	TACCTCGGGATGGAT	TACCTCGGGATGGAT	-	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	TACCTCGGGATGGAT	TACCTCGGGATGGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	120	0	ENST00000357137.4:c.1273_1287del	p.Tyr425_Asp429del	p.Y425_D429del	ENST00000357137	NM_022098.3	425	TACCTCGGGATGGAT/-	0	.	.	.	.	.	-	YLGMD/-	protein_coding	YES	CCDS14007.1	1273-1287	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCACTACCTCGGGATGGATGTCCA	NONE	.	.	hmmpanther:PTHR10804,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920	.	.	ENSP00000349658	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000357137	Transcript	.	.	ENSG00000196236	28052	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XPP3_HUMAN	XPNPEP3	HGNC	B7ZBB4_HUMAN	.	UPI00000401E0	deletion	XPNPEP3,inframe_deletion,p.Tyr425_Asp429del,ENST00000357137,;XPNPEP3,inframe_deletion,p.Tyr402_Asp406del,ENST00000544094,;XPNPEP3,3_prime_UTR_variant,,ENST00000428799,;	1357-1371	120	97	SUCCESS
HDAC10	83933	.	GRCh37	22	50688843	50688843	+	intron_variant	Intron	SNP	C	C	T	rs372427838	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	61	0	ENST00000216271.5:c.291+13G>A		p.*97*	ENST00000216271	NM_032019.5			0	T:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS14088.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCCGGGGA	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000216271	.	.	.	.	.	.	.	.	.	.	rs372427838	.	PASS	ENST00000216271	Transcript	.	.	ENSG00000100429	18128	.	.	MODIFIER	3/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDA10_HUMAN	HDAC10	HGNC	.	.	UPI000012C3A6	SNV	HDAC10,intron_variant,,ENST00000349505,;HDAC10,intron_variant,,ENST00000216271,;HDAC10,intron_variant,,ENST00000448072,;MAPK12,downstream_gene_variant,,ENST00000215659,;MAPK12,downstream_gene_variant,,ENST00000395780,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,intron_variant,,ENST00000470965,;HDAC10,intron_variant,,ENST00000498366,;HDAC10,intron_variant,,ENST00000497483,;HDAC10,intron_variant,,ENST00000483222,;HDAC10,intron_variant,,ENST00000496909,;HDAC10,intron_variant,,ENST00000489424,;HDAC10,non_coding_transcript_exon_variant,,ENST00000482213,;HDAC10,intron_variant,,ENST00000454936,;HDAC10,intron_variant,,ENST00000429374,;HDAC10,intron_variant,,ENST00000415993,;HDAC10,upstream_gene_variant,,ENST00000475965,;HDAC10,upstream_gene_variant,,ENST00000471375,;HDAC10,upstream_gene_variant,,ENST00000496235,;HDAC10,upstream_gene_variant,,ENST00000488270,;HDAC10,upstream_gene_variant,,ENST00000477814,;MAPK12,downstream_gene_variant,,ENST00000488504,;MAPK12,downstream_gene_variant,,ENST00000482969,;MAPK12,downstream_gene_variant,,ENST00000497738,;MAPK12,downstream_gene_variant,,ENST00000467891,;MAPK12,downstream_gene_variant,,ENST00000496942,;HDAC10,upstream_gene_variant,,ENST00000470378,;HDAC10,upstream_gene_variant,,ENST00000476310,;HDAC10,upstream_gene_variant,,ENST00000497952,;	.	61	48	SUCCESS
SCN7A	6332	.	GRCh37	2	167298065	167298065	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	157	76	190	0	ENST00000409855.1:c.1998C>A	p.Leu666=	p.L666=	ENST00000409855	NM_002976.3	666	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46442.1	1998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGAGTTG	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,synonymous_variant,p.%3D,ENST00000409855,;SCN7A,synonymous_variant,p.%3D,ENST00000419992,;SCN7A,synonymous_variant,p.%3D,ENST00000424326,;	2125	190	233	SUCCESS
TLK1	9874	.	GRCh37	2	171853223	171853223	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	57	0	ENST00000431350.2:c.2064A>G	p.Thr688=	p.T688=	ENST00000431350		688	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2241.1	2064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTGTATT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000411099	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000431350	Transcript	.	.	ENSG00000198586	11841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLK1_HUMAN	TLK1	HGNC	Q53TF9_HUMAN,Q53TE4_HUMAN	.	UPI0000073255	SNV	TLK1,synonymous_variant,p.%3D,ENST00000521943,;TLK1,synonymous_variant,p.%3D,ENST00000442919,;TLK1,synonymous_variant,p.%3D,ENST00000360843,;TLK1,synonymous_variant,p.%3D,ENST00000431350,;TLK1,synonymous_variant,p.%3D,ENST00000434911,;TLK1,3_prime_UTR_variant,,ENST00000359766,;TLK1,downstream_gene_variant,,ENST00000409443,;	2469	57	59	SUCCESS
TTN	7273	.	GRCh37	2	179438088	179438088	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	63	0	ENST00000591111.1:c.67848T>C	p.Tyr22616=	p.Y22616=	ENST00000591111		22616	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS59435.1	72771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATATAATT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	COSM3407169,COSM3407168,COSM3407165,COSM3407167,COSM3407166	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	72996	63	61	SUCCESS
CFLAR	8837	.	GRCh37	2	201997722	201997722	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	85	0	ENST00000309955.3:c.282-30A>G		p.*94*	ENST00000309955	NM_003879.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2337.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAATTAAC	NONE	.	.	.	.	.	ENSP00000312455	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309955	Transcript	.	.	ENSG00000003402	1876	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CFLAR_HUMAN	CFLAR	HGNC	M0QYM0_HUMAN,C9JV51_HUMAN,C9JSU3_HUMAN,C9J4Q0_HUMAN,C9J408_HUMAN	.	UPI0000030475	SNV	CFLAR,5_prime_UTR_variant,,ENST00000462763,;CFLAR,5_prime_UTR_variant,,ENST00000479953,;CFLAR,5_prime_UTR_variant,,ENST00000470178,;CFLAR,intron_variant,,ENST00000395148,;CFLAR,intron_variant,,ENST00000341222,;CFLAR,intron_variant,,ENST00000494258,;CFLAR,intron_variant,,ENST00000443227,;CFLAR,intron_variant,,ENST00000340870,;CFLAR,intron_variant,,ENST00000457277,;CFLAR,intron_variant,,ENST00000417748,;CFLAR,intron_variant,,ENST00000341582,;CFLAR,intron_variant,,ENST00000342795,;CFLAR,intron_variant,,ENST00000355558,;CFLAR,intron_variant,,ENST00000309955,;CFLAR,intron_variant,,ENST00000440180,;CFLAR,intron_variant,,ENST00000441224,;CFLAR,intron_variant,,ENST00000423241,;CFLAR,downstream_gene_variant,,ENST00000433445,;CFLAR,downstream_gene_variant,,ENST00000425030,;CFLAR,intron_variant,,ENST00000461820,;CFLAR,intron_variant,,ENST00000439154,;CFLAR,intron_variant,,ENST00000461422,;CFLAR,upstream_gene_variant,,ENST00000460961,;IMPDH1P10,downstream_gene_variant,,ENST00000440965,;	.	85	83	SUCCESS
MAP2	4133	.	GRCh37	2	210594614	210594614	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	113	0	ENST00000360351.4:c.5196C>T	p.Phe1732=	p.F1732=	ENST00000360351	NM_002374.3	1732	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS2384.1	5196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCAAAGA	NONE	.	.	PROSITE_profiles:PS51491,hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF00418	.	.	ENSP00000353508	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,synonymous_variant,p.%3D,ENST00000360351,;MAP2,synonymous_variant,p.%3D,ENST00000447185,;MAP2,synonymous_variant,p.%3D,ENST00000199940,;MAP2,synonymous_variant,p.%3D,ENST00000392194,;MAP2,synonymous_variant,p.%3D,ENST00000361559,;MAP2,downstream_gene_variant,,ENST00000475600,;	5702	113	122	SUCCESS
APOB	338	.	GRCh37	2	21232581	21232585	+	frameshift_variant	Frame_Shift_Del	DEL	TTATC	TTATC	-	.	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	TTATC	TTATC	.	.	.	.	.	.	.	.	.	.	.	.	.	138	61	162	0	ENST00000233242.1:c.7155_7159del	p.Ile2386ArgfsTer4	p.I2386Rfs*4	ENST00000233242	NM_000384.2	2385	aaGATAAaa/aaaa	0	.	.	.	.	.	-	KIK/KX	protein_coding	YES	CCDS1703.1	7155-7159	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCTTTTATCTTAAC	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	COSM442254	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Ile2386ArgfsTer4,ENST00000233242,;	7283-7287	162	199	SUCCESS
LBH	81606	.	GRCh37	2	30480370	30480370	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	85	1	ENST00000395323.3:c.201A>G	p.Glu67=	p.E67=	ENST00000395323	NM_030915.3	67	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS33173.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAACCCAC	NONE	.	.	Prints_domain:PR01881,PIRSF_domain:PIRSF008130,Pfam_domain:PF15317,hmmpanther:PTHR14987:SF2,hmmpanther:PTHR14987	.	.	ENSP00000378733	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000395323	Transcript	.	.	ENSG00000213626	29532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBH_HUMAN	LBH	HGNC	F8WC18_HUMAN,B5MBX5_HUMAN	.	UPI0000034E08	SNV	LBH,synonymous_variant,p.%3D,ENST00000401506,;LBH,synonymous_variant,p.%3D,ENST00000395323,;LBH,synonymous_variant,p.%3D,ENST00000407930,;LBH,3_prime_UTR_variant,,ENST00000406087,;LBH,intron_variant,,ENST00000404397,;LBH,non_coding_transcript_exon_variant,,ENST00000467242,;LBH,non_coding_transcript_exon_variant,,ENST00000484150,;LBH,downstream_gene_variant,,ENST00000464412,;LBH,3_prime_UTR_variant,,ENST00000412933,;AC104698.1,upstream_gene_variant,,ENST00000541067,;	409	86	81	SUCCESS
ANTXR1	84168	.	GRCh37	2	69379340	69379340	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	66	0	ENST00000303714.4:c.991T>C	p.Phe331Leu	p.F331L	ENST00000303714	NM_032208.2	331	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1892.1	991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTTCCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16059:SF11,hmmpanther:PTHR16059,PIRSF_domain:PIRSF038023	.	.	ENSP00000301945	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000303714	Transcript	.	.	ENSG00000169604	21014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(1)	.	ANTR1_HUMAN	ANTXR1	HGNC	.	.	UPI0000049806	SNV	ANTXR1,missense_variant,p.Phe331Leu,ENST00000409349,;ANTXR1,missense_variant,p.Phe331Leu,ENST00000303714,;	1313	66	66	SUCCESS
CMPK2	129607	.	GRCh37	2	7003632	7003632	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	36	97	0	ENST00000256722.5:c.753G>T	p.Lys251Asn	p.K251N	ENST00000256722	NM_207315.3	251	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS42648.1	753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACTTTCC	NONE	.	.	hmmpanther:PTHR10344,hmmpanther:PTHR10344:SF2,Gene3D:3.40.50.300,PIRSF_domain:PIRSF019736	.	.	ENSP00000256722	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000256722	Transcript	.	.	ENSG00000134326	27015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.28)	.	CMPK2_HUMAN	CMPK2	HGNC	I1Z9C7_HUMAN	.	UPI000016014D	SNV	CMPK2,missense_variant,p.Lys251Asn,ENST00000458098,;CMPK2,missense_variant,p.Lys251Asn,ENST00000404168,;CMPK2,missense_variant,p.Lys251Asn,ENST00000256722,;RSAD2,upstream_gene_variant,,ENST00000442639,;CMPK2,non_coding_transcript_exon_variant,,ENST00000465619,;CMPK2,non_coding_transcript_exon_variant,,ENST00000470479,;CMPK2,non_coding_transcript_exon_variant,,ENST00000478738,;RSAD2,upstream_gene_variant,,ENST00000474872,;CMPK2,upstream_gene_variant,,ENST00000491738,;	753	97	127	SUCCESS
CCDC80	151887	.	GRCh37	3	112358134	112358134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	25	94	0	ENST00000206423.3:c.619G>A	p.Gly207Ser	p.G207S	ENST00000206423	NM_199512.1	207	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2968.1	619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCTCGC	NONE	.	.	Pfam_domain:PF13778	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Gly207Ser,ENST00000206423,;CCDC80,missense_variant,p.Gly207Ser,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	1573	94	87	SUCCESS
CNOT10	25904	.	GRCh37	3	32774933	32774933	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	75	254	0	ENST00000328834.5:c.1234A>G	p.Lys412Glu	p.K412E	ENST00000328834	NM_015442.2	412	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS58822.1	1414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTAAAGGC	NONE	.	.	hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979,Superfamily_domains:SSF48452	.	.	ENSP00000399862	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000454516	Transcript	.	.	ENSG00000182973	23817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	tolerated(0.12)	.	CNO10_HUMAN	CNOT10	HGNC	B7Z5B3_HUMAN	.	UPI000206533D	SNV	CNOT10,missense_variant,p.Lys412Glu,ENST00000328834,;CNOT10,missense_variant,p.Lys412Glu,ENST00000331889,;CNOT10,missense_variant,p.Lys472Glu,ENST00000454516,;CNOT10,missense_variant,p.Lys184Glu,ENST00000538368,;CNOT10,upstream_gene_variant,,ENST00000430408,;CNOT10-AS1,intron_variant,,ENST00000475395,;CNOT10,missense_variant,p.Lys358Glu,ENST00000435630,;CNOT10,3_prime_UTR_variant,,ENST00000416457,;	1491	254	255	SUCCESS
CTDSPL	10217	.	GRCh37	3	38017293	38017293	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	68	0	ENST00000273179.5:c.613G>T	p.Val205Leu	p.V205L	ENST00000273179	NM_001008392.1	205	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS33734.1	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACGTGAAG	NONE	.	.	Superfamily_domains:SSF56784,SMART_domains:SM00577,Pfam_domain:PF03031,TIGRFAM_domain:TIGR02251,Gene3D:3.40.50.1000,hmmpanther:PTHR12210:SF43,hmmpanther:PTHR12210,PROSITE_profiles:PS50969	.	.	ENSP00000273179	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000273179	Transcript	.	.	ENSG00000144677	16890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	CTDSL_HUMAN	CTDSPL	HGNC	.	.	UPI00001BE8E2	SNV	CTDSPL,missense_variant,p.Val94Leu,ENST00000447745,;CTDSPL,missense_variant,p.Val194Leu,ENST00000443503,;CTDSPL,missense_variant,p.Val205Leu,ENST00000273179,;CTDSPL,missense_variant,p.Val11Leu,ENST00000436654,;CTDSPL,non_coding_transcript_exon_variant,,ENST00000310189,;CTDSPL,downstream_gene_variant,,ENST00000486978,;	639	68	60	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266112	41266112	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs121913228	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	23	150	0	ENST00000349496.5:c.109T>G	p.Ser37Ala	p.S37A	ENST00000349496	NM_001904.3	37	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS2694.1	109	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATTCTGGT	SITE|p.S37A|c.109T>G|67,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.H36R|c.107A>G|3,CODON|p.H36P|c.107A>C|34,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913228,COSM5675,COSM5687,COSM5729	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	possibly_damaging(0.844)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Ala,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Ala,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Ala,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	389	150	152	SUCCESS
ITIH4	3700	.	GRCh37	3	52864542	52864542	+	intron_variant	Intron	SNP	C	C	A	rs758947828	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	89	0	ENST00000266041.4:c.90+27G>T		p.*30*	ENST00000266041	NM_002218.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2865.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCACGCC	NONE	.	.	.	.	.	ENSP00000266041	.	.	.	.	.	.	.	.	.	.	rs758947828	.	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	MODIFIER	1/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,intron_variant,,ENST00000346281,;ITIH4,intron_variant,,ENST00000266041,;ITIH4,intron_variant,,ENST00000434759,;ITIH4,intron_variant,,ENST00000485816,;ITIH4,intron_variant,,ENST00000406595,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000514466,;MUSTN1,downstream_gene_variant,,ENST00000486659,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000504329,;ITIH4,upstream_gene_variant,,ENST00000441637,;MUSTN1,downstream_gene_variant,,ENST00000446157,;RP5-966M1.6,non_coding_transcript_exon_variant,,ENST00000513520,;ITIH4,non_coding_transcript_exon_variant,,ENST00000473904,;RP5-966M1.6,intron_variant,,ENST00000468472,;ITIH4,intron_variant,,ENST00000537897,;ITIH4,intron_variant,,ENST00000491663,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000495552,;	.	89	77	SUCCESS
PXK	54899	.	GRCh37	3	58383369	58383369	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	114	0	ENST00000356151.2:c.1022T>G	p.Leu341Ter	p.L341*	ENST00000356151	NM_017771.3	341	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS2889.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTTACTGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22999,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000348472	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000356151	Transcript	.	.	ENSG00000168297	23326	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXK_HUMAN	PXK	HGNC	U3KQS4_HUMAN	.	UPI000004A035	SNV	PXK,stop_gained,p.Leu204Ter,ENST00000536660,;PXK,stop_gained,p.Leu341Ter,ENST00000484288,;PXK,stop_gained,p.Leu308Ter,ENST00000463280,;PXK,stop_gained,p.Leu324Ter,ENST00000302779,;PXK,stop_gained,p.Leu324Ter,ENST00000479241,;PXK,stop_gained,p.Leu341Ter,ENST00000356151,;PXK,stop_gained,p.Leu308Ter,ENST00000383716,;PXK,stop_gained,p.Leu96Ter,ENST00000479134,;PXK,stop_gained,p.Leu34Ter,ENST00000459676,;PXK,stop_gained,p.Leu324Ter,ENST00000383715,;PXK,3_prime_UTR_variant,,ENST00000468776,;PXK,3_prime_UTR_variant,,ENST00000477308,;	1131	114	91	SUCCESS
JADE1	79960	.	GRCh37	4	129792900	129792900	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	61	161	1	ENST00000226319.6:c.2012G>C	p.Gly671Ala	p.G671A	ENST00000226319	NM_199320.2	671	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS34062.1	2012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGAGACT	NONE	.	.	hmmpanther:PTHR13793:SF79,hmmpanther:PTHR13793	.	.	ENSP00000226319	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000226319	Transcript	.	.	ENSG00000077684	30027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.96)	.	JADE1_HUMAN	JADE1	HGNC	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN	.	UPI000020B45B	SNV	JADE1,missense_variant,p.Gly659Ala,ENST00000452328,;JADE1,missense_variant,p.Gly671Ala,ENST00000512960,;JADE1,missense_variant,p.Gly671Ala,ENST00000226319,;SCLT1,intron_variant,,ENST00000503565,;	2292	162	178	SUCCESS
TMEM192	201931	.	GRCh37	4	166000907	166000907	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	69	0	ENST00000306480.6:c.719A>T	p.Asp240Val	p.D240V	ENST00000306480	NM_001100389.1	240	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS43279.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTCTCCT	NONE	.	.	hmmpanther:PTHR31592,Pfam_domain:PF14802	.	.	ENSP00000305069	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000306480	Transcript	.	.	ENSG00000170088	26775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TM192_HUMAN	TMEM192	HGNC	D6RAZ6_HUMAN	.	UPI00000742A4	SNV	TMEM192,missense_variant,p.Asp236Val,ENST00000506087,;TMEM192,missense_variant,p.Asp240Val,ENST00000306480,;	865	69	91	SUCCESS
EVC	2121	.	GRCh37	4	5798959	5798959	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs201083145	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	103	0	ENST00000264956.6:c.2097G>T		p.X699_splice	ENST00000264956	NM_153717.2	699	ctG/ctT	0	.	A:0	.	A:0	.	T	L	protein_coding	YES	CCDS3383.1	2097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGTAAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	A:0	.	ENSP00000372120	A:0.001	14/24	.	.	.	.	.	.	.	.	rs201083145	14/24	PASS	ENST00000382674	Transcript	1	A:0.0002	ENSG00000072840	3497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,synonymous_variant,p.%3D,ENST00000382674,;EVC,synonymous_variant,p.%3D,ENST00000264956,;EVC,splice_region_variant,,ENST00000515113,;CRMP1,intron_variant,,ENST00000506216,;EVC,non_coding_transcript_exon_variant,,ENST00000506240,;	2281	103	102	SUCCESS
EPHA5	2044	.	GRCh37	4	66467891	66467891	+	synonymous_variant	Silent	SNP	G	G	T	rs55882537	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	51	0	ENST00000273854.3:c.378C>A	p.Ile126=	p.I126=	ENST00000273854	NM_004439.5	126	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3513.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAGATTCT	NONE	.	.	PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	.	.	ENSP00000273854	.	3/18	.	.	.	.	.	.	.	.	rs55882537	3/18	PASS	ENST00000273854	Transcript	.	.	ENSG00000145242	3389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA5_HUMAN	EPHA5	HGNC	.	.	UPI000013D9D9	SNV	EPHA5,synonymous_variant,p.%3D,ENST00000273854,;EPHA5,synonymous_variant,p.%3D,ENST00000511294,;EPHA5,synonymous_variant,p.%3D,ENST00000432638,;EPHA5,synonymous_variant,p.%3D,ENST00000354839,;	979	51	53	SUCCESS
TMPRSS11D	9407	.	GRCh37	4	68693206	68693206	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	41	99	1	ENST00000283916.6:c.725C>A	p.Ser242Tyr	p.S242Y	ENST00000283916	NM_004262.2	242	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS3518.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCAGACGTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF36,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	.	ENSP00000283916	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000283916	Transcript	.	.	ENSG00000153802	24059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	TM11D_HUMAN	TMPRSS11D	HGNC	Q4W5K4_HUMAN,B4DL57_HUMAN	.	UPI000003FE66	SNV	TMPRSS11D,missense_variant,p.Ser125Tyr,ENST00000545541,;TMPRSS11D,missense_variant,p.Ser242Tyr,ENST00000283916,;TMPRSS11D,intron_variant,,ENST00000514868,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502573,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000505533,;	824	100	122	SUCCESS
BTC	685	.	GRCh37	4	75675929	75675929	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs146656652	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	285	101	356	0	ENST00000395743.3:c.282C>A		p.X94_splice	ENST00000395743	NM_001729.2	94	gtC/gtA	0	C:0.0002	.	.	.	.	T	V	protein_coding	YES	CCDS3566.1	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACAGCTATA	NONE	byCluster	.	Prints_domain:PR00009,Superfamily_domains:SSF57196,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR10740:SF3,hmmpanther:PTHR10740,PROSITE_profiles:PS50026	.	C:0	ENSP00000379092	.	4/6	.	.	.	.	.	.	.	.	rs146656652	4/6	PASS	ENST00000395743	Transcript	.	.	ENSG00000174808	1121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTC_HUMAN	BTC	HGNC	.	.	UPI0000126B08	SNV	BTC,synonymous_variant,p.%3D,ENST00000395743,;BTC,intron_variant,,ENST00000512743,;	643	356	386	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86916438	86916438	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	5	96	0	ENST00000395184.1:c.1631T>A	p.Leu544His	p.L544H	ENST00000395184	NM_001025616.2	544	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS34025.1	1631	MUTECT|MUSE	.	GAACCTTGATG	NONE	.	.	hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5	.	.	ENSP00000378611	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.443)	.	tolerated(0.28)	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,missense_variant,p.Leu451His,ENST00000264343,;ARHGAP24,missense_variant,p.Leu459His,ENST00000514229,;ARHGAP24,missense_variant,p.Leu544His,ENST00000395184,;ARHGAP24,missense_variant,p.Leu449His,ENST00000395183,;	2097	96	129	SUCCESS
AFF1	4299	.	GRCh37	4	88048838	88048838	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs763375207	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	113	1	ENST00000307808.6:c.2926C>T	p.Gln976Ter	p.Q976*	ENST00000307808	NM_005935.2	976	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS54775.1	2947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGCAGAAA	NONE	.	.	hmmpanther:PTHR10528:SF14,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000378578	.	16/21	.	.	.	.	.	.	.	.	rs763375207	16/21	PASS	ENST00000395146	Transcript	1	.	ENSG00000172493	7135	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFF1_HUMAN	AFF1	HGNC	Q712L1_HUMAN,F5GXF9_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN	.	UPI000013EC52	SNV	AFF1,stop_gained,p.Gln976Ter,ENST00000307808,;AFF1,stop_gained,p.Gln983Ter,ENST00000395146,;AFF1,stop_gained,p.Gln614Ter,ENST00000544085,;AFF1,downstream_gene_variant,,ENST00000503369,;	3222	114	94	SUCCESS
IBSP	3381	.	GRCh37	4	88732574	88732609	+	inframe_deletion	In_Frame_Del	DEL	GAAGAGGAAGGAAATGAAAACGAAGAAAGCGAAGCA	GAAGAGGAAGGAAATGAAAACGAAGAAAGCGAAGCA	-	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	GAAGAGGAAGGAAATGAAAACGAAGAAAGCGAAGCA	GAAGAGGAAGGAAATGAAAACGAAGAAAGCGAAGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	79	21	122	0	ENST00000226284.5:c.470_505del	p.Glu157_Glu168del	p.E157_E168del	ENST00000226284	NM_004967.3	156	GAAGAGGAAGGAAATGAAAACGAAGAAAGCGAAGCA/-	0	.	.	.	.	.	-	EEEGNENEESEA/-	protein_coding	YES	CCDS3624.1	466-501	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGAGGAAGAGGAAGGAAATGAAAACGAAGAAAGCGAAGCAGAAGT	CODON|p.E163K|c.487G>A|4	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10345:SF0,hmmpanther:PTHR10345,Pfam_domain:PF05432	.	.	ENSP00000226284	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000226284	Transcript	.	.	ENSG00000029559	5341	4	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIAL_HUMAN	IBSP	HGNC	.	.	UPI000013C899	deletion	IBSP,inframe_deletion,p.Glu157_Glu168del,ENST00000226284,;	533-568	122	100	SUCCESS
PDHA2	5161	.	GRCh37	4	96761797	96761797	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755461904	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	63	0	ENST00000295266.4:c.496G>A	p.Gly166Ser	p.G166S	ENST00000295266	NM_005390.4	166	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS3644.1	496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCGGTGCA	NONE	.	.	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	rs755461904,COSM1633857	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.993)	.	deleterious(0)	0,1	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,missense_variant,p.Gly166Ser,ENST00000295266,;	559	63	71	SUCCESS
ST8SIA4	7903	.	GRCh37	5	100147642	100147642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	21	104	0	ENST00000231461.5:c.989C>A	p.Pro330His	p.P330H	ENST00000231461	NM_005668.5	330	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4091.1	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGAGGGCTT	NONE	.	.	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF31	.	.	ENSP00000231461	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000231461	Transcript	.	.	ENSG00000113532	10871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.816)	.	.	.	SIA8D_HUMAN	ST8SIA4	HGNC	.	.	UPI0000135973	SNV	ST8SIA4,missense_variant,p.Pro330His,ENST00000231461,;MIR548P,downstream_gene_variant,,ENST00000408336,;	1300	104	83	SUCCESS
STK32A	202374	.	GRCh37	5	146752851	146752851	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	67	0	ENST00000397936.3:c.897T>C	p.Ile299=	p.I299=	ENST00000397936	NM_001112724.1	299	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS47299.1	897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATTCCTAA	NONE	.	.	hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF143,Superfamily_domains:SSF56112	.	.	ENSP00000381030	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000397936	Transcript	.	.	ENSG00000169302	28317	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST32A_HUMAN	STK32A	HGNC	.	.	UPI000003FDBE	SNV	STK32A,synonymous_variant,p.%3D,ENST00000398523,;STK32A,synonymous_variant,p.%3D,ENST00000397936,;STK32A,non_coding_transcript_exon_variant,,ENST00000306304,;	1230	67	89	SUCCESS
FBXL7	23194	.	GRCh37	5	15936739	15936739	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs765637665	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	37	0	ENST00000504595.1:c.920G>A	p.Arg307His	p.R307H	ENST00000504595	NM_012304.4	307	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS54833.1	920	MUTECT|MUSE	.	GCGCCGCTGCG	NONE	.	.	hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	rs765637665	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,missense_variant,p.Arg295His,ENST00000329673,;FBXL7,missense_variant,p.Arg260His,ENST00000510662,;FBXL7,missense_variant,p.Arg307His,ENST00000504595,;MIR887,downstream_gene_variant,,ENST00000401258,;	1401	37	23	SUCCESS
DOCK2	1794	.	GRCh37	5	169186741	169186741	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	78	0	ENST00000256935.8:c.2409G>T	p.Leu803=	p.L803=	ENST00000256935	NM_004946.2	803	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4371.1	2409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGCATGA	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000256935	.	24/52	.	.	.	.	.	.	.	.	.	24/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,synonymous_variant,p.%3D,ENST00000256935,;DOCK2,synonymous_variant,p.%3D,ENST00000519628,;DOCK2,synonymous_variant,p.%3D,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520181,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,upstream_gene_variant,,ENST00000523351,;DOCK2,synonymous_variant,p.%3D,ENST00000524185,;	2489	78	75	SUCCESS
PRELID1	27166	.	GRCh37	5	176732936	176732936	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758358635	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	64	0	ENST00000303204.4:c.383G>A	p.Arg128Gln	p.R128Q	ENST00000303204	NM_013237.3	128	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS4415.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGGGAAG	NONE	byFrequency	.	Pfam_domain:PF04707,hmmpanther:PTHR11158:SF21,hmmpanther:PTHR11158,PROSITE_profiles:PS50904	.	.	ENSP00000302114	.	3/5	.	.	.	.	.	.	.	.	rs758358635	3/5	PASS	ENST00000303204	Transcript	.	.	ENSG00000169230	30255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.08)	.	PRLD1_HUMAN	PRELID1	HGNC	.	.	UPI0000070DF2	SNV	PRELID1,missense_variant,p.Arg128Gln,ENST00000303204,;PRELID1,missense_variant,p.Arg77Gln,ENST00000503853,;PRELID1,missense_variant,p.Arg128Gln,ENST00000503216,;MXD3,3_prime_UTR_variant,,ENST00000427908,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;RAB24,upstream_gene_variant,,ENST00000504395,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;PRELID1,3_prime_UTR_variant,,ENST00000510797,;PRELID1,3_prime_UTR_variant,,ENST00000504594,;PRELID1,non_coding_transcript_exon_variant,,ENST00000511309,;PRELID1,non_coding_transcript_exon_variant,,ENST00000510701,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;MXD3,downstream_gene_variant,,ENST00000503782,;RAB24,upstream_gene_variant,,ENST00000512758,;RAB24,upstream_gene_variant,,ENST00000495458,;	595	64	51	SUCCESS
PDZD2	23037	.	GRCh37	5	32089543	32089543	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	41	0	ENST00000438447.1:c.5989A>T	p.Met1997Leu	p.M1997L	ENST00000438447		1997	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS34137.1	5989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCATGTGG	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	.	.	ENSP00000402033	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,missense_variant,p.Met1997Leu,ENST00000438447,;PDZD2,missense_variant,p.Met1997Leu,ENST00000282493,;	6377	41	44	SUCCESS
PRKAA1	5562	.	GRCh37	5	40762932	40762932	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	24	147	0	ENST00000397128.2:c.1628C>A	p.Thr543Lys	p.T543K	ENST00000397128	NM_006251.5	543	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS3933.2	1673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATTGTGTGA	NONE	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF81,Superfamily_domains:SSF103243	.	.	ENSP00000346148	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000354209	Transcript	.	.	ENSG00000132356	9376	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AAPK1_HUMAN	PRKAA1	HGNC	.	.	UPI00003529FB	SNV	PRKAA1,missense_variant,p.Thr543Lys,ENST00000397128,;PRKAA1,missense_variant,p.Thr558Lys,ENST00000354209,;PRKAA1,downstream_gene_variant,,ENST00000506652,;PRKAA1,downstream_gene_variant,,ENST00000509874,;PRKAA1,downstream_gene_variant,,ENST00000505783,;PRKAA1,downstream_gene_variant,,ENST00000513152,;	1858	147	112	SUCCESS
DEPDC1B	55789	.	GRCh37	5	59940645	59940645	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	49	131	0	ENST00000265036.5:c.636C>A	p.Val212=	p.V212=	ENST00000265036	NM_018369.2	212	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3977.1	636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTGACAAG	NONE	.	.	hmmpanther:PTHR16206:SF11,hmmpanther:PTHR16206,PROSITE_profiles:PS50238	.	.	ENSP00000265036	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000265036	Transcript	.	.	ENSG00000035499	24902	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEP1B_HUMAN	DEPDC1B	HGNC	.	.	UPI000020C7D4	SNV	DEPDC1B,synonymous_variant,p.%3D,ENST00000453022,;DEPDC1B,synonymous_variant,p.%3D,ENST00000265036,;DEPDC1B,synonymous_variant,p.%3D,ENST00000545085,;DEPDC1B,3_prime_UTR_variant,,ENST00000512078,;DEPDC1B,downstream_gene_variant,,ENST00000505017,;DEPDC1B,downstream_gene_variant,,ENST00000512452,;	704	131	150	SUCCESS
FRMD1	79981	.	GRCh37	6	168464373	168464373	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	108	0	ENST00000283309.6:c.712C>T	p.Gln238Ter	p.Q238*	ENST00000283309	NM_024919.3	238	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5306.1	712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGCGCT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR13429,hmmpanther:PTHR13429:SF4,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000283309	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000283309	Transcript	.	.	ENSG00000153303	21240	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRMD1_HUMAN	FRMD1	HGNC	F5GXR0_HUMAN	.	UPI000013F36A	SNV	FRMD1,stop_gained,p.Gln9Ter,ENST00000537786,;FRMD1,stop_gained,p.Gln170Ter,ENST00000440994,;FRMD1,stop_gained,p.Gln238Ter,ENST00000283309,;FRMD1,downstream_gene_variant,,ENST00000511714,;FRMD1,non_coding_transcript_exon_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,non_coding_transcript_exon_variant,,ENST00000506415,;FRMD1,non_coding_transcript_exon_variant,,ENST00000336070,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,;	777	108	101	SUCCESS
VARS2	57176	.	GRCh37	6	30893707	30893707	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	57	140	0	ENST00000321897.5:c.3012C>T	p.Tyr1004=	p.Y1004=	ENST00000321897		1004	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS54980.1	3102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTACAAGTT	NONE	.	.	hmmpanther:PTHR11946:SF71,hmmpanther:PTHR11946	.	.	ENSP00000441000	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000541562	Transcript	.	.	ENSG00000137411	21642	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYVM_HUMAN	VARS2	HGNC	B7ZCJ6_HUMAN,A2ABL6_HUMAN	.	UPI0001BDAB0F	SNV	VARS2,synonymous_variant,p.%3D,ENST00000321897,;VARS2,synonymous_variant,p.%3D,ENST00000542001,;VARS2,synonymous_variant,p.%3D,ENST00000541562,;VARS2,synonymous_variant,p.%3D,ENST00000416670,;VARS2,non_coding_transcript_exon_variant,,ENST00000476162,;VARS2,non_coding_transcript_exon_variant,,ENST00000469358,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,non_coding_transcript_exon_variant,,ENST00000473916,;VARS2,downstream_gene_variant,,ENST00000477052,;	3183	140	142	SUCCESS
PBX2	5089	.	GRCh37	6	32156140	32156140	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	51	0	ENST00000375050.4:c.437C>G	p.Ser146Cys	p.S146C	ENST00000375050	NM_002586.4	146	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS4748.1	437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAGAGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11850:SF50,hmmpanther:PTHR11850,Pfam_domain:PF03792	.	.	ENSP00000364190	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000375050	Transcript	.	.	ENSG00000204304	8633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0.04)	.	PBX2_HUMAN	PBX2	HGNC	.	.	UPI00001313B2	SNV	PBX2,missense_variant,p.Ser146Cys,ENST00000375050,;AGER,upstream_gene_variant,,ENST00000375056,;AGER,upstream_gene_variant,,ENST00000450110,;RNF5,downstream_gene_variant,,ENST00000427134,;GPSM3,downstream_gene_variant,,ENST00000487761,;AGER,upstream_gene_variant,,ENST00000375055,;AGER,upstream_gene_variant,,ENST00000375070,;AGER,upstream_gene_variant,,ENST00000438221,;AGER,upstream_gene_variant,,ENST00000375065,;AGER,upstream_gene_variant,,ENST00000375076,;AGER,upstream_gene_variant,,ENST00000375067,;GPSM3,downstream_gene_variant,,ENST00000375043,;AGER,upstream_gene_variant,,ENST00000375069,;AGER,upstream_gene_variant,,ENST00000538695,;GPSM3,downstream_gene_variant,,ENST00000375040,;XXbac-BPG300A18.13,upstream_gene_variant,,ENST00000559458,;PBX2,non_coding_transcript_exon_variant,,ENST00000496171,;PBX2,non_coding_transcript_exon_variant,,ENST00000480254,;PBX2,non_coding_transcript_exon_variant,,ENST00000478678,;GPSM3,downstream_gene_variant,,ENST00000472768,;AGER,upstream_gene_variant,,ENST00000484849,;PBX2,upstream_gene_variant,,ENST00000495300,;	708	51	50	SUCCESS
TULP1	7287	.	GRCh37	6	35471363	35471363	+	synonymous_variant	Silent	SNP	G	G	A	rs752893076	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	72	0	ENST00000229771.6:c.1296C>T	p.Asn432=	p.N432=	ENST00000229771	NM_003322.3	432	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4807.1	1296	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGTTCTC	NONE	.	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12,Gene3D:3c5nA00,Pfam_domain:PF01167,Superfamily_domains:SSF54518	.	.	ENSP00000229771	.	13/15	.	.	.	.	.	.	.	.	rs752893076	13/15	PASS	ENST00000229771	Transcript	.	.	ENSG00000112041	12423	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TULP1_HUMAN	TULP1	HGNC	Q0QD38_HUMAN	.	UPI000045742A	SNV	TULP1,synonymous_variant,p.%3D,ENST00000229771,;TULP1,synonymous_variant,p.%3D,ENST00000322263,;TULP1,non_coding_transcript_exon_variant,,ENST00000496434,;TULP1,non_coding_transcript_exon_variant,,ENST00000495781,;TULP1,downstream_gene_variant,,ENST00000373892,;	1376	73	66	SUCCESS
PRPF4B	8899	.	GRCh37	6	4032471	4032471	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	46	144	0	ENST00000337659.6:c.720A>G	p.Lys240=	p.K240=	ENST00000337659	NM_003913.4	240	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS4488.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAATCCCC	NONE	.	.	.	.	.	ENSP00000337194	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000337659	Transcript	.	.	ENSG00000112739	17346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP4B_HUMAN	PRPF4B	HGNC	H0YDJ3_HUMAN,F5H2U2_HUMAN	.	UPI000013DD12	SNV	PRPF4B,synonymous_variant,p.%3D,ENST00000337659,;PRPF4B,synonymous_variant,p.%3D,ENST00000538861,;PRPF4B,synonymous_variant,p.%3D,ENST00000480058,;	820	144	167	SUCCESS
LRFN2	57497	.	GRCh37	6	40360309	40360309	+	synonymous_variant	Silent	SNP	G	G	A	rs147506870	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	21	0	ENST00000338305.6:c.1743C>T	p.Gly581=	p.G581=	ENST00000338305	NM_020737.1	581	ggC/ggT	0	A:0.0014	.	.	.	.	A	G	protein_coding	YES	CCDS34443.1	1743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGCCGTT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	A:0	ENSP00000345985	.	3/3	.	.	.	.	.	.	.	.	rs147506870,COSM1079094	3/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,synonymous_variant,p.%3D,ENST00000338305,;	2286	21	23	SUCCESS
PKHD1	5314	.	GRCh37	6	51523772	51523772	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	74	0	ENST00000371117.3:c.11152T>C	p.Ser3718Pro	p.S3718P	ENST00000371117	NM_138694.3	3718	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4935.1	11152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGACTGAG	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	61/67	.	.	.	.	.	.	.	.	.	61/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.43)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Ser3718Pro,ENST00000371117,;	11428	74	69	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	107	342	0	ENST00000309268.6:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000309268		432	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4980.1	1295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGTCTGT	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM2151856	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.58)	.	deleterious_low_confidence(0.03)	1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ile,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2287	342	320	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	107	342	0	ENST00000309268.6:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000309268		432	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4980.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTCTGTC	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM3162419,COSM3745352	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	deleterious_low_confidence(0)	1,1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ser,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2286	342	320	SUCCESS
POU3F2	5454	.	GRCh37	6	99283906	99283906	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	24	76	0	ENST00000328345.5:c.1159del	p.Leu387SerfsTer12	p.L387Sfs*12	ENST00000328345	NM_005604.3	386	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS5040.1	1157	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACCTCCCTCG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF79,hmmpanther:PTHR11636,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,PIRSF_domain:PIRSF002629,Superfamily_domains:SSF46689	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	deletion	POU3F2,frameshift_variant,p.Leu387SerfsTer12,ENST00000328345,;	1327	76	130	SUCCESS
ABCA13	154664	.	GRCh37	7	48467381	48467381	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	61	0	ENST00000435803.1:c.12478C>G	p.Gln4160Glu	p.Q4160E	ENST00000435803	NM_152701.3	4160	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS47584.1	12478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCAAGAT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	42/62	.	.	.	.	.	.	.	.	.	42/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Gln4160Glu,ENST00000435803,;ABCA13,missense_variant,p.Gln426Glu,ENST00000453246,;	12502	61	62	SUCCESS
RSPH10B2	728194	.	GRCh37	7	6798742	6798742	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	593	112	676	0	ENST00000297186.3:c.282G>C	p.Leu94=	p.L94=	ENST00000297186		94	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS43552.1	282	RADIA|MUSE|VARSCANS	.	GGGCTGTATGA	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF131,Gene3D:1h3iA01,Pfam_domain:PF02493,Superfamily_domains:0038399	.	.	ENSP00000384766	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000403107	Transcript	.	.	ENSG00000169402	34385	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	R10B2_HUMAN	RSPH10B2	HGNC	C9JJN2_HUMAN	.	UPI000020EAF6	SNV	RSPH10B2,synonymous_variant,p.%3D,ENST00000404077,;RSPH10B2,synonymous_variant,p.%3D,ENST00000403107,;RSPH10B2,synonymous_variant,p.%3D,ENST00000297186,;RSPH10B2,synonymous_variant,p.%3D,ENST00000433859,;RSPH10B2,5_prime_UTR_variant,,ENST00000359718,;RSPH10B2,downstream_gene_variant,,ENST00000418406,;RSPH10B2,downstream_gene_variant,,ENST00000435395,;RSPH10B2,intron_variant,,ENST00000485129,;RSPH10B2,upstream_gene_variant,,ENST00000497737,;RSPH10B2,upstream_gene_variant,,ENST00000463354,;RSPH10B2,upstream_gene_variant,,ENST00000489190,;	669	677	705	SUCCESS
LAT2	7462	.	GRCh37	7	73631176	73631176	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs868935686	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	83	0	ENST00000275635.7:c.116T>G	p.Ile39Ser	p.I39S	ENST00000275635	NM_032463.2	39	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS5566.2	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATCTACC	NONE	.	.	hmmpanther:PTHR15646	.	.	ENSP00000420494	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000460943	Transcript	.	.	ENSG00000086730	12749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NTAL_HUMAN	LAT2	HGNC	F8W947_HUMAN,C9JDY7_HUMAN,C9JA24_HUMAN	.	UPI0000037782	SNV	LAT2,missense_variant,p.Ile39Ser,ENST00000361082,;LAT2,missense_variant,p.Ile39Ser,ENST00000460943,;LAT2,missense_variant,p.Ile39Ser,ENST00000398475,;LAT2,missense_variant,p.Ile39Ser,ENST00000475494,;LAT2,missense_variant,p.Ile39Ser,ENST00000344995,;LAT2,missense_variant,p.Ile39Ser,ENST00000465116,;LAT2,missense_variant,p.Ile39Ser,ENST00000275635,;LAT2,intron_variant,,ENST00000470709,;LAT2,missense_variant,p.Ile39Ser,ENST00000488266,;LAT2,upstream_gene_variant,,ENST00000490586,;LAT2,downstream_gene_variant,,ENST00000491595,;	1005	83	89	SUCCESS
ZNF804B	219578	.	GRCh37	7	88965181	88965181	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	91	267	0	ENST00000333190.4:c.2885C>T	p.Pro962Leu	p.P962L	ENST00000333190	NM_181646.2	962	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5613.1	2885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCCATGCA	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	COSM602476	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.111)	.	tolerated(0.23)	1	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,missense_variant,p.Pro962Leu,ENST00000333190,;	3494	267	276	SUCCESS
GTPBP10	85865	.	GRCh37	7	89982211	89982211	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	42	128	0	ENST00000222511.6:c.115G>A	p.Gly39Ser	p.G39S	ENST00000222511	NM_033107.3	39	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS5617.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAGGTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11702:SF25,hmmpanther:PTHR11702,Pfam_domain:PF01018,Gene3D:1udxA01,PIRSF_domain:PIRSF002401,Superfamily_domains:SSF82051	.	.	ENSP00000222511	.	2/10	.	.	.	.	.	.	.	.	COSM1550373	2/10	PASS	ENST00000222511	Transcript	.	.	ENSG00000105793	25106	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	GTPBA_HUMAN	GTPBP10	HGNC	.	.	UPI00003674D7	SNV	GTPBP10,missense_variant,p.Gly39Ser,ENST00000417207,;GTPBP10,missense_variant,p.Gly39Ser,ENST00000222511,;GTPBP10,missense_variant,p.Gly39Ser,ENST00000257659,;GTPBP10,missense_variant,p.Gly56Ser,ENST00000450619,;GTPBP10,missense_variant,p.Gly30Ser,ENST00000426366,;GTPBP10,upstream_gene_variant,,ENST00000474503,;GTPBP10,missense_variant,p.Gly39Ser,ENST00000439832,;GTPBP10,missense_variant,p.Gly30Ser,ENST00000453512,;GTPBP10,missense_variant,p.Gly39Ser,ENST00000380058,;GTPBP10,missense_variant,p.Gly30Ser,ENST00000421719,;GTPBP10,non_coding_transcript_exon_variant,,ENST00000477972,;	181	128	152	SUCCESS
TRAPPC9	83696	.	GRCh37	8	141370238	141370238	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1391693665	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	12	83	0	ENST00000438773.2:c.1406A>G	p.Tyr469Cys	p.Y469C	ENST00000438773	NM_001160372.1	469	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34946.1	1700	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGTAGACC	NONE	.	.	Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11	.	.	ENSP00000373979	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000389328	Transcript	1	.	ENSG00000167632	30832	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	tolerated(0.16)	.	TPPC9_HUMAN	TRAPPC9	HGNC	.	.	UPI0000DBEF2B	SNV	TRAPPC9,missense_variant,p.Tyr313Cys,ENST00000520857,;TRAPPC9,missense_variant,p.Tyr460Cys,ENST00000389327,;TRAPPC9,missense_variant,p.Tyr567Cys,ENST00000389328,;TRAPPC9,missense_variant,p.Tyr469Cys,ENST00000438773,;	1715	83	108	SUCCESS
EPHX2	2053	.	GRCh37	8	27382882	27382882	+	synonymous_variant	Silent	SNP	G	G	T	rs200523278	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	145	1	ENST00000521400.1:c.1062G>T	p.Ala354=	p.A354=	ENST00000521400	NM_001979.5	354	gcG/gcT	0	A:0	A:0.0008	.	A:0	.	T	A	protein_coding	YES	CCDS6060.1	1062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGGTGGC	BUFFER|p.A354V|c.1061C>T|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10992:SF758,hmmpanther:PTHR10992,Pfam_domain:PF00561,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR00111,Prints_domain:PR00412	A:0	A:0.0002	ENSP00000430269	A:0	12/19	.	.	.	.	.	.	.	.	rs200523278	12/19	PASS	ENST00000521400	Transcript	.	A:0.0004	ENSG00000120915	3402	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	HYES_HUMAN	EPHX2	HGNC	E5RI53_HUMAN	.	UPI0000073FE5	SNV	EPHX2,synonymous_variant,p.%3D,ENST00000518379,;EPHX2,synonymous_variant,p.%3D,ENST00000521780,;EPHX2,synonymous_variant,p.%3D,ENST00000380476,;EPHX2,synonymous_variant,p.%3D,ENST00000517536,;EPHX2,synonymous_variant,p.%3D,ENST00000521400,;EPHX2,downstream_gene_variant,,ENST00000521684,;EPHX2,non_coding_transcript_exon_variant,,ENST00000520623,;EPHX2,downstream_gene_variant,,ENST00000523326,;	1492	146	132	SUCCESS
TEX15	56154	.	GRCh37	8	30694575	30694575	+	synonymous_variant	Silent	SNP	C	C	A	rs547808449	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	103	0	ENST00000256246.2:c.8076G>T	p.Gly2692=	p.G2692=	ENST00000256246	NM_031271.3	2692	ggG/ggT	0	.	A:0.0008	.	A:0	.	A	G	protein_coding	YES	CCDS6080.1	8076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGCCCAGA	NONE	by1000G	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	A:0	.	ENSP00000256246	A:0	3/4	.	.	.	.	.	.	.	.	rs547808449	3/4	PASS	ENST00000256246	Transcript	.	A:0.0002	ENSG00000133863	11738	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,synonymous_variant,p.%3D,ENST00000256246,;	8151	103	114	SUCCESS
ADAM32	203102	.	GRCh37	8	38965212	38965212	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	55	0	ENST00000379907.4:c.-83G>A		p.*28*	ENST00000379907	NM_145004.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47846.1	.	RADIA|MUTECT|MUSE	.	GAGCGGCCCCC	NONE	.	.	.	.	.	ENSP00000369238	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000379907	Transcript	.	.	ENSG00000197140	15479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADA32_HUMAN	ADAM32	HGNC	E5RJY7_HUMAN	.	UPI000013F62F	SNV	ADAM32,missense_variant,p.Ala7Thr,ENST00000437682,;ADAM32,5_prime_UTR_variant,,ENST00000379907,;ADAM32,5_prime_UTR_variant,,ENST00000399831,;ADAM32,5_prime_UTR_variant,,ENST00000519315,;ADAM32,intron_variant,,ENST00000523400,;ADAM32,upstream_gene_variant,,ENST00000522506,;ADAM9,downstream_gene_variant,,ENST00000487273,;ADAM32,upstream_gene_variant,,ENST00000521741,;ADAM9,downstream_gene_variant,,ENST00000463437,;ADAM9,downstream_gene_variant,,ENST00000468065,;ADAM9,downstream_gene_variant,,ENST00000379917,;ADAM9,downstream_gene_variant,,ENST00000481873,;	45	55	54	SUCCESS
TGS1	96764	.	GRCh37	8	56698309	56698309	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	53	153	0	ENST00000260129.5:c.198T>C	p.Gly66=	p.G66=	ENST00000260129	NM_024831.6	66	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS34894.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTTATTC	NONE	.	.	hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32	.	.	ENSP00000260129	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000260129	Transcript	.	.	ENSG00000137574	17843	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGS1_HUMAN	TGS1	HGNC	.	.	UPI0000DBEF24	SNV	TGS1,synonymous_variant,p.%3D,ENST00000260129,;TGS1,synonymous_variant,p.%3D,ENST00000523948,;TGS1,upstream_gene_variant,,ENST00000519494,;	675	153	194	SUCCESS
ARPC5L	81873	.	GRCh37	9	127631527	127631527	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	26	0	ENST00000259477.6:c.-43G>T		p.*15*	ENST00000259477	NM_030978.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6859.1	.	MUTECT|MUSE	.	AGGTCGGGCCG	NONE	.	.	.	.	.	ENSP00000345361	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000353214	Transcript	.	.	ENSG00000136950	23366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARP5L_HUMAN	ARPC5L	HGNC	.	.	UPI00000705BF	SNV	ARPC5L,5_prime_UTR_variant,,ENST00000353214,;ARPC5L,5_prime_UTR_variant,,ENST00000259477,;ARPC5L,upstream_gene_variant,,ENST00000465124,;	1210	26	27	SUCCESS
TTC16	158248	.	GRCh37	9	130489325	130489325	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs923179592	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	40	0	ENST00000373289.3:c.1502C>T	p.Ala501Val	p.A501V	ENST00000373289	NM_144965.1	501	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6875.1	1502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCCAGGC	NONE	.	.	.	.	.	ENSP00000362386	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000373289	Transcript	.	.	ENSG00000167094	26536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.03)	.	TTC16_HUMAN	TTC16	HGNC	.	.	UPI000006FE14	SNV	TTC16,missense_variant,p.Ala501Val,ENST00000373289,;TOR2A,downstream_gene_variant,,ENST00000336067,;TOR2A,downstream_gene_variant,,ENST00000458505,;TOR2A,downstream_gene_variant,,ENST00000373281,;PTRH1,upstream_gene_variant,,ENST00000419060,;TTC16,downstream_gene_variant,,ENST00000393748,;TOR2A,downstream_gene_variant,,ENST00000373284,;TTC16,non_coding_transcript_exon_variant,,ENST00000488285,;TTC16,non_coding_transcript_exon_variant,,ENST00000489226,;TOR2A,downstream_gene_variant,,ENST00000463256,;TOR2A,downstream_gene_variant,,ENST00000494135,;TOR2A,downstream_gene_variant,,ENST00000496460,;TOR2A,downstream_gene_variant,,ENST00000472723,;PTRH1,upstream_gene_variant,,ENST00000429848,;TOR2A,downstream_gene_variant,,ENST00000463577,;	1582	40	46	SUCCESS
USP20	10868	.	GRCh37	9	132632793	132632793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	81	0	ENST00000315480.4:c.1627C>T	p.Leu543Phe	p.L543F	ENST00000315480		543	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS43892.1	1627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCTTGCT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000313811	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,missense_variant,p.Leu543Phe,ENST00000372429,;USP20,missense_variant,p.Leu543Phe,ENST00000358355,;USP20,missense_variant,p.Leu543Phe,ENST00000315480,;USP20,intron_variant,,ENST00000474895,;USP20,downstream_gene_variant,,ENST00000491731,;	1785	81	82	SUCCESS
FOCAD	54914	.	GRCh37	9	20926369	20926369	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766397020	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	97	0	ENST00000338382.6:c.3031G>T	p.Asp1011Tyr	p.D1011Y	ENST00000338382		1011	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS34993.1	3031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGGATAGC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4	.	.	ENSP00000369599	.	28/46	.	.	.	.	.	.	.	.	rs766397020	28/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.01)	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,missense_variant,p.Asp1011Tyr,ENST00000380249,;FOCAD,missense_variant,p.Asp447Tyr,ENST00000605086,;FOCAD,missense_variant,p.Asp1011Tyr,ENST00000338382,;FOCAD,upstream_gene_variant,,ENST00000603695,;FOCAD,upstream_gene_variant,,ENST00000604254,;FOCAD,upstream_gene_variant,,ENST00000603044,;	3395	98	99	SUCCESS
SLC39A12	221074	.	GRCh37	10	18289660	18289660	+	synonymous_variant	Silent	SNP	T	T	C	rs750412650	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	74	0	ENST00000377369.2:c.1665T>C	p.Asp555=	p.D555=	ENST00000377369	NM_001145195.1	555	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS44362.1	1665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATGGCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535	.	.	ENSP00000366586	.	11/13	.	.	.	.	.	.	.	.	rs750412650	11/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,synonymous_variant,p.%3D,ENST00000377369,;SLC39A12,synonymous_variant,p.%3D,ENST00000539911,;SLC39A12,synonymous_variant,p.%3D,ENST00000377371,;SLC39A12,synonymous_variant,p.%3D,ENST00000377374,;SLC39A12-AS1,downstream_gene_variant,,ENST00000445287,;SLC39A12-AS1,downstream_gene_variant,,ENST00000439319,;	1938	74	58	SUCCESS
GJD4	219770	.	GRCh37	10	35897239	35897239	+	synonymous_variant	Silent	SNP	G	G	A	rs1175684732	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	17	0	ENST00000321660.1:c.798G>A	p.Pro266=	p.P266=	ENST00000321660	NM_153368.2	266	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7191.1	798	MUTECT|MUSE	.	CCCCCGGGTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11984:SF3,hmmpanther:PTHR11984	.	.	ENSP00000315070	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000321660	Transcript	.	.	ENSG00000177291	23296	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXD4_HUMAN	GJD4	HGNC	.	.	UPI000007118B	SNV	GJD4,synonymous_variant,p.%3D,ENST00000321660,;RP11-425A6.5,upstream_gene_variant,,ENST00000609313,;	956	17	17	SUCCESS
FRMPD2	143162	.	GRCh37	10	49447719	49447719	+	synonymous_variant	Silent	SNP	C	C	A	rs753784936	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	44	0	ENST00000374201.3:c.717G>T	p.Thr239=	p.T239=	ENST00000374201	NM_001018071.3	239	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31195.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCGTGCT	NONE	byFrequency	.	.	.	.	ENSP00000363317	.	7/29	.	.	.	.	.	.	.	.	rs753784936	7/29	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,synonymous_variant,p.%3D,ENST00000374201,;FRMPD2,synonymous_variant,p.%3D,ENST00000407470,;FRMPD2,synonymous_variant,p.%3D,ENST00000305531,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;FRMPD2,downstream_gene_variant,,ENST00000468556,;	1020	44	41	SUCCESS
RASGRP2	10235	.	GRCh37	11	64507504	64507504	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146725264	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	50	0	ENST00000354024.3:c.503G>A	p.Arg168His	p.R168H	ENST00000354024	NM_153819.1	168	cGc/cAc	0	T:0.0009	.	.	.	.	T	R/H	protein_coding	YES	CCDS31598.1	503	MUSE|VARSCANS	.	AGGAGCGATAC	NONE	byFrequency|byCluster	.	Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR23113:SF16,hmmpanther:PTHR23113,PROSITE_profiles:PS50009	.	T:0.0001	ENSP00000338864	.	6/17	.	.	.	.	.	.	.	.	rs146725264,COSM357492	6/17	common_in_exac	ENST00000354024	Transcript	.	.	ENSG00000068831	9879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.023)	.	deleterious(0.03)	0,1	GRP2_HUMAN	RASGRP2	HGNC	Q2YDB1_HUMAN,E7EM78_HUMAN,C9JZ82_HUMAN,A6NHE2_HUMAN	.	UPI0000161186	SNV	RASGRP2,missense_variant,p.Arg168His,ENST00000354024,;RASGRP2,missense_variant,p.Arg168His,ENST00000394432,;RASGRP2,missense_variant,p.Arg168His,ENST00000377494,;RASGRP2,missense_variant,p.Arg168His,ENST00000377497,;RASGRP2,missense_variant,p.Arg168His,ENST00000431822,;RASGRP2,downstream_gene_variant,,ENST00000394429,;RASGRP2,downstream_gene_variant,,ENST00000377489,;RASGRP2,downstream_gene_variant,,ENST00000377486,;RASGRP2,downstream_gene_variant,,ENST00000430645,;RASGRP2,downstream_gene_variant,,ENST00000377485,;RASGRP2,downstream_gene_variant,,ENST00000419843,;RASGRP2,downstream_gene_variant,,ENST00000394428,;RASGRP2,downstream_gene_variant,,ENST00000394430,;RASGRP2,downstream_gene_variant,,ENST00000377487,;RASGRP2,3_prime_UTR_variant,,ENST00000445445,;RASGRP2,3_prime_UTR_variant,,ENST00000421556,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000464324,;RASGRP2,upstream_gene_variant,,ENST00000488071,;RASGRP2,upstream_gene_variant,,ENST00000494001,;RASGRP2,upstream_gene_variant,,ENST00000465852,;RASGRP2,downstream_gene_variant,,ENST00000480443,;RASGRP2,upstream_gene_variant,,ENST00000497441,;RASGRP2,downstream_gene_variant,,ENST00000441258,;	756	50	37	SUCCESS
NOX4	50507	.	GRCh37	11	89069106	89069106	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	113	187	0	ENST00000263317.4:c.1523T>G	p.Ile508Ser	p.I508S	ENST00000263317		508	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS8285.1	1523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAATTATC	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	.	.	ENSP00000263317	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.23)	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,missense_variant,p.Ile201Ser,ENST00000375979,;NOX4,missense_variant,p.Ile484Ser,ENST00000535633,;NOX4,missense_variant,p.Ile484Ser,ENST00000527956,;NOX4,missense_variant,p.Ile484Ser,ENST00000542487,;NOX4,missense_variant,p.Ile484Ser,ENST00000343727,;NOX4,missense_variant,p.Ile529Ser,ENST00000413594,;NOX4,missense_variant,p.Ile444Ser,ENST00000532825,;NOX4,missense_variant,p.Ile161Ser,ENST00000531342,;NOX4,missense_variant,p.Ile321Ser,ENST00000527626,;NOX4,missense_variant,p.Ile468Ser,ENST00000534731,;NOX4,missense_variant,p.Ile508Ser,ENST00000263317,;NOX4,missense_variant,p.Ile272Ser,ENST00000525196,;NOX4,missense_variant,p.Ile483Ser,ENST00000528341,;NOX4,missense_variant,p.Ile484Ser,ENST00000424319,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000524473,;	1762	187	210	SUCCESS
KIAA1731	0	.	GRCh37	11	93432956	93432959	+	frameshift_variant	Frame_Shift_Del	DEL	AAAC	AAAC	-	rs949717514	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	AAAC	AAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	75	0	ENST00000325212.6:c.4885_4888del	p.Gln1629GlufsTer3	p.Q1629Efs*3	ENST00000325212		1626	ttAAAC/tt	0	.	.	.	.	.	-	LN/X	protein_coding	YES	CCDS44708.1	4878-4881	INDELOCATOR|VARSCANI	.	GTCTTTAAACAAACA	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	deletion	KIAA1731,frameshift_variant,p.Gln1629GlufsTer3,ENST00000325212,;KIAA1731,frameshift_variant,p.Gln1629GlufsTer3,ENST00000411936,;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;KIAA1731,5_prime_UTR_variant,,ENST00000530425,;KIAA1731,intron_variant,,ENST00000531700,;KIAA1731,downstream_gene_variant,,ENST00000531877,;KIAA1731,downstream_gene_variant,,ENST00000531622,;	5040-5043	75	48	SUCCESS
NCKAP5L	57701	.	GRCh37	12	50190423	50190423	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756598186	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	18	0	ENST00000335999.6:c.1220G>A	p.Ser407Asn	p.S407N	ENST00000335999	NM_001037806.3	407	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS41781.2	1220	RADIA|MUSE	.	ACATGCTAAGG	NONE	.	.	hmmpanther:PTHR21740	.	.	ENSP00000337998	.	8/13	.	.	.	.	.	.	.	.	rs756598186,COSM262328	8/13	PASS	ENST00000335999	Transcript	.	.	ENSG00000167566	29321	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.987)	.	deleterious(0)	0,1	NCK5L_HUMAN	NCKAP5L	HGNC	.	.	UPI00006C1298	SNV	NCKAP5L,missense_variant,p.Ser407Asn,ENST00000335999,;NCKAP5L,missense_variant,p.Ser122Asn,ENST00000433948,;	1422	18	18	SUCCESS
EFNB2	1948	.	GRCh37	13	107187315	107187315	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs760837871	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	53	0	ENST00000245323.4:c.-3G>A		p.*1*	ENST00000245323	NM_004093.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9507.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCGAAGC	NONE	byFrequency	.	.	.	.	ENSP00000245323	.	1/5	.	.	.	.	.	.	.	.	rs760837871	1/5	PASS	ENST00000245323	Transcript	.	.	ENSG00000125266	3227	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EFNB2_HUMAN	EFNB2	HGNC	Q2PDH7_HUMAN	.	UPI0000129C9B	SNV	EFNB2,5_prime_UTR_variant,,ENST00000245323,;	148	53	58	SUCCESS
GNPNAT1	64841	.	GRCh37	14	53245074	53245074	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	9	151	0	ENST00000216410.3:c.510T>C	p.Tyr170=	p.Y170=	ENST00000216410	NM_198066.3	170	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS9712.1	510	MUTECT|MUSE	.	ACAGTATATCC	NONE	.	.	PROSITE_profiles:PS51186,hmmpanther:PTHR13355,Pfam_domain:PF00583,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000216410	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216410	Transcript	.	.	ENSG00000100522	19980	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNA1_HUMAN	GNPNAT1	HGNC	G3V5E4_HUMAN,G3V4W4_HUMAN	.	UPI000003B007	SNV	GNPNAT1,synonymous_variant,p.%3D,ENST00000216410,;GNPNAT1,synonymous_variant,p.%3D,ENST00000554230,;STYX,downstream_gene_variant,,ENST00000442123,;STYX,downstream_gene_variant,,ENST00000354586,;GNPNAT1,downstream_gene_variant,,ENST00000557604,;RP11-589M4.1,downstream_gene_variant,,ENST00000555689,;RP11-589M4.1,downstream_gene_variant,,ENST00000555969,;STYX,downstream_gene_variant,,ENST00000556861,;GNPNAT1,upstream_gene_variant,,ENST00000554421,;GNPNAT1,downstream_gene_variant,,ENST00000553987,;	698	151	171	SUCCESS
CATSPER2	117155	.	GRCh37	15	43924421	43924421	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs148790135	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	31	74	0	ENST00000321596.5:c.1537C>A	p.Arg513Ser	p.R513S	ENST00000321596		513	Cgt/Agt	0	A:0.0002	.	.	.	.	T	R/S	protein_coding	YES	CCDS10099.1	1537	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACGTTCCT	NONE	byCluster	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF189	.	A:0	ENSP00000321463	.	12/13	.	.	.	.	.	.	.	.	rs148790135	12/13	PASS	ENST00000321596	Transcript	1	.	ENSG00000166762	18810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CTSR2_HUMAN	CATSPER2	HGNC	E7EX46_HUMAN,B8ZZQ9_HUMAN	.	UPI000006DE3A	SNV	CATSPER2,missense_variant,p.Arg511Ser,ENST00000354127,;CATSPER2,missense_variant,p.Arg517Ser,ENST00000381761,;CATSPER2,missense_variant,p.Arg511Ser,ENST00000396879,;CATSPER2,missense_variant,p.Arg513Ser,ENST00000321596,;CATSPER2,3_prime_UTR_variant,,ENST00000355438,;STRC,intron_variant,,ENST00000541030,;CATSPER2,missense_variant,p.Arg55Ser,ENST00000450810,;CATSPER2,3_prime_UTR_variant,,ENST00000419262,;CATSPER2,3_prime_UTR_variant,,ENST00000433380,;CATSPER2,non_coding_transcript_exon_variant,,ENST00000469461,;CATSPER2,downstream_gene_variant,,ENST00000472960,;	1737	74	54	SUCCESS
ABCC1	4363	.	GRCh37	16	16139804	16139804	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	75	0	ENST00000399410.3:c.1152C>T	p.Tyr384=	p.Y384=	ENST00000399410	NM_004996.3	384	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS42122.1	1152	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACTTCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000382342	.	9/31	.	.	.	.	.	.	.	.	.	9/31	PASS	ENST00000399410	Transcript	.	.	ENSG00000103222	51	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MRP1_HUMAN	ABCC1	HGNC	Q9BV39_HUMAN	.	UPI00001FEEFC	SNV	ABCC1,synonymous_variant,p.%3D,ENST00000399408,;ABCC1,synonymous_variant,p.%3D,ENST00000351154,;ABCC1,synonymous_variant,p.%3D,ENST00000399410,;ABCC1,synonymous_variant,p.%3D,ENST00000349029,;ABCC1,synonymous_variant,p.%3D,ENST00000346370,;ABCC1,synonymous_variant,p.%3D,ENST00000345148,;ABCC1,synonymous_variant,p.%3D,ENST00000572882,;ABCC1,non_coding_transcript_exon_variant,,ENST00000574224,;	1327	75	91	SUCCESS
MYLK3	91807	.	GRCh37	16	46782159	46782159	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	15	0	ENST00000394809.4:c.-54G>C		p.*18*	ENST00000394809	NM_182493.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10723.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGACCCCTGGT	NONE	.	.	.	.	.	ENSP00000378288	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000394809	Transcript	.	.	ENSG00000140795	29826	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYLK3_HUMAN	MYLK3	HGNC	.	.	UPI000059D380	SNV	MYLK3,5_prime_UTR_variant,,ENST00000394809,;MYLK3,intron_variant,,ENST00000536476,;MYLK3,intron_variant,,ENST00000569810,;	63	15	18	SUCCESS
MLKL	197259	.	GRCh37	16	74708937	74708937	+	synonymous_variant	Silent	SNP	A	A	C	rs1597478188	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	48	82	0	ENST00000308807.7:c.1302T>G	p.Gly434=	p.G434=	ENST00000308807	NM_152649.2	434	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS32487.1	1302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCACCCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF347,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112	.	.	ENSP00000308351	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000308807	Transcript	.	.	ENSG00000168404	26617	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLKL_HUMAN	MLKL	HGNC	I3L4Z5_HUMAN,I3L2T9_HUMAN	.	UPI000004073C	SNV	MLKL,synonymous_variant,p.%3D,ENST00000308807,;MLKL,synonymous_variant,p.%3D,ENST00000306247,;MLKL,synonymous_variant,p.%3D,ENST00000576529,;MLKL,non_coding_transcript_exon_variant,,ENST00000570846,;MLKL,non_coding_transcript_exon_variant,,ENST00000575695,;MLKL,downstream_gene_variant,,ENST00000571303,;	1766	82	116	SUCCESS
MNT	4335	.	GRCh37	17	2290484	2290484	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	37	0	ENST00000174618.4:c.1460C>A	p.Pro487His	p.P487H	ENST00000174618	NM_020310.2	487	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS11018.1	1460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGGGGGGT	NONE	.	.	hmmpanther:PTHR11969:SF15,hmmpanther:PTHR11969	.	.	ENSP00000174618	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000174618	Transcript	.	.	ENSG00000070444	7188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	MNT_HUMAN	MNT	HGNC	K7ES66_HUMAN	.	UPI000012F2C6	SNV	MNT,missense_variant,p.Pro487His,ENST00000174618,;MNT,downstream_gene_variant,,ENST00000575394,;RP1-59D14.1,downstream_gene_variant,,ENST00000571775,;MNT,downstream_gene_variant,,ENST00000575374,;MNT,downstream_gene_variant,,ENST00000571232,;MNT,downstream_gene_variant,,ENST00000572892,;MNT,downstream_gene_variant,,ENST00000573384,;MNT,downstream_gene_variant,,ENST00000575402,;	1866	37	31	SUCCESS
KRTAP9-2	83899	.	GRCh37	17	39383271	39383271	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1414646945	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	67	129	0	ENST00000377721.3:c.365A>G	p.Tyr122Cys	p.Y122C	ENST00000377721	NM_031961.2	122	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32651.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTACCCCA	NONE	.	.	Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF36	.	.	ENSP00000366950	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377721	Transcript	.	.	ENSG00000239886	16926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.15)	.	KRA92_HUMAN	KRTAP9-2	HGNC	Q6ISF6_HUMAN	.	UPI000013CE13	SNV	KRTAP9-2,missense_variant,p.Tyr106Cys,ENST00000455970,;KRTAP9-2,missense_variant,p.Tyr122Cys,ENST00000377721,;	372	129	123	SUCCESS
GABARAP	11337	.	GRCh37	17	7145698	7145698	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs371733041	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	48	0	ENST00000302386.5:c.-49C>T		p.*17*	ENST00000302386	NM_007278.1			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS11092.1	.	MUTECT|MUSE	.	AGGGGGGCCGG	NONE	byFrequency|byCluster	.	.	.	T:0.0004	ENSP00000306866	.	1/4	.	.	.	.	.	.	.	.	rs371733041	1/4	PASS	ENST00000302386	Transcript	.	.	ENSG00000170296	4067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRAP_HUMAN	GABARAP	HGNC	Q6IAW1_HUMAN,I3L236_HUMAN	.	UPI00000215FE	SNV	GABARAP,5_prime_UTR_variant,,ENST00000302386,;GABARAP,5_prime_UTR_variant,,ENST00000573928,;PHF23,upstream_gene_variant,,ENST00000454255,;GABARAP,upstream_gene_variant,,ENST00000571129,;PHF23,upstream_gene_variant,,ENST00000570899,;CTDNEP1,downstream_gene_variant,,ENST00000576613,;PHF23,upstream_gene_variant,,ENST00000572789,;PHF23,upstream_gene_variant,,ENST00000574323,;CTDNEP1,downstream_gene_variant,,ENST00000575783,;GABARAP,upstream_gene_variant,,ENST00000571253,;PHF23,upstream_gene_variant,,ENST00000574236,;CTDNEP1,downstream_gene_variant,,ENST00000574322,;PHF23,upstream_gene_variant,,ENST00000573826,;CTDNEP1,downstream_gene_variant,,ENST00000572043,;PHF23,upstream_gene_variant,,ENST00000320316,;GABARAP,upstream_gene_variant,,ENST00000577035,;CTDNEP1,downstream_gene_variant,,ENST00000571409,;CTDNEP1,downstream_gene_variant,,ENST00000573600,;CTDNEP1,downstream_gene_variant,,ENST00000318988,;CTDNEP1,downstream_gene_variant,,ENST00000570828,;PHF23,upstream_gene_variant,,ENST00000571362,;PHF23,upstream_gene_variant,,ENST00000576955,;PHF23,upstream_gene_variant,,ENST00000574407,;PHF23,upstream_gene_variant,,ENST00000570753,;PHF23,upstream_gene_variant,,ENST00000574899,;CTD-2545G14.7,intron_variant,,ENST00000570760,;RP1-4G17.5,downstream_gene_variant,,ENST00000577138,;CTDNEP1,downstream_gene_variant,,ENST00000570385,;CTDNEP1,downstream_gene_variant,,ENST00000574205,;CTDNEP1,downstream_gene_variant,,ENST00000570484,;CTDNEP1,downstream_gene_variant,,ENST00000570380,;GABARAP,upstream_gene_variant,,ENST00000570856,;	392	48	36	SUCCESS
FBF1	85302	.	GRCh37	17	73914085	73914085	+	synonymous_variant	Silent	SNP	G	G	A	rs759210559	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	47	1	ENST00000586717.1:c.2271C>T	p.Arg757=	p.R757=	ENST00000586717		757	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS45779.1	2268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGCGGGA	NONE	byFrequency	.	.	.	.	ENSP00000324292	.	21/29	.	.	.	.	.	.	.	.	rs759210559	21/29	PASS	ENST00000319129	Transcript	.	.	ENSG00000188878	24674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBF1_HUMAN	FBF1	HGNC	K7ESG2_HUMAN	.	UPI0000DD841F	SNV	FBF1,synonymous_variant,p.%3D,ENST00000319129,;FBF1,synonymous_variant,p.%3D,ENST00000592193,;FBF1,synonymous_variant,p.%3D,ENST00000389570,;FBF1,synonymous_variant,p.%3D,ENST00000586717,;FBF1,upstream_gene_variant,,ENST00000590264,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;RP11-552F3.12,upstream_gene_variant,,ENST00000587556,;FBF1,downstream_gene_variant,,ENST00000586838,;FBF1,upstream_gene_variant,,ENST00000586112,;FBF1,upstream_gene_variant,,ENST00000593076,;	2542	48	35	SUCCESS
DDC8	0	.	GRCh37	17	76887017	76887017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	47	0	ENST00000322630.2:c.1569G>T	p.Met523Ile	p.M523I	ENST00000322630	NM_001243540.1	523	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS58603.1	1569	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCATTTG	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2	.	.	ENSP00000312767	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000322630	Transcript	.	.	ENSG00000178404	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.24)	.	DDC8_HUMAN	DDC8	Uniprot_gn	.	.	UPI0000071A46	SNV	DDC8,missense_variant,p.Met523Ile,ENST00000322630,;TIMP2,intron_variant,,ENST00000536189,;DDC8,intron_variant,,ENST00000586713,;TIMP2,intron_variant,,ENST00000262768,;DDC8,downstream_gene_variant,,ENST00000590267,;DDC8,downstream_gene_variant,,ENST00000587052,;	1735	47	39	SUCCESS
PTPRM	5797	.	GRCh37	18	8143692	8143692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	20	65	0	ENST00000332175.8:c.2215C>T	p.His739Tyr	p.H739Y	ENST00000332175	NM_002845.3	739	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS58613.1	2215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCATACA	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206	.	.	ENSP00000463325	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.01)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.His739Tyr,ENST00000332175,;PTPRM,missense_variant,p.His237Tyr,ENST00000583289,;PTPRM,missense_variant,p.His739Tyr,ENST00000400060,;PTPRM,missense_variant,p.His677Tyr,ENST00000400053,;PTPRM,missense_variant,p.His526Tyr,ENST00000444013,;PTPRM,missense_variant,p.His92Tyr,ENST00000577468,;PTPRM,missense_variant,p.His739Tyr,ENST00000580170,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	3252	65	74	SUCCESS
ZNF792	126375	.	GRCh37	19	35449077	35449077	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	72	140	0	ENST00000404801.1:c.1682C>T	p.Pro561Leu	p.P561L	ENST00000404801	NM_175872.4	561	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12440.2	1682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAAGGCCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000385099	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000404801	Transcript	.	.	ENSG00000180884	24751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	deleterious(0.02)	.	ZN792_HUMAN	ZNF792	HGNC	S4R3B8_HUMAN	.	UPI0000202090	SNV	ZNF792,missense_variant,p.Pro494Leu,ENST00000605484,;ZNF792,missense_variant,p.Pro561Leu,ENST00000404801,;	2069	140	162	SUCCESS
DENND1C	79958	.	GRCh37	19	6472968	6472968	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	27	0	ENST00000381480.2:c.1090G>C	p.Ala364Pro	p.A364P	ENST00000381480	NM_024898.2	364	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS45938.1	1090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCCAAGA	NONE	.	.	PROSITE_profiles:PS50947,hmmpanther:PTHR13196:SF21,hmmpanther:PTHR13196,Pfam_domain:PF03455,SMART_domains:SM00801	.	.	ENSP00000370889	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000381480	Transcript	.	.	ENSG00000205744	26225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0.04)	.	DEN1C_HUMAN	DENND1C	HGNC	K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN	.	UPI000007469C	SNV	DENND1C,missense_variant,p.Ala364Pro,ENST00000381480,;DENND1C,missense_variant,p.Ala320Pro,ENST00000543576,;DENND1C,downstream_gene_variant,,ENST00000590173,;DENND1C,downstream_gene_variant,,ENST00000588421,;DENND1C,downstream_gene_variant,,ENST00000590473,;DENND1C,downstream_gene_variant,,ENST00000591030,;DENND1C,3_prime_UTR_variant,,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590444,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590818,;DENND1C,downstream_gene_variant,,ENST00000586046,;DENND1C,downstream_gene_variant,,ENST00000589491,;DENND1C,upstream_gene_variant,,ENST00000591795,;DENND1C,downstream_gene_variant,,ENST00000588988,;DENND1C,downstream_gene_variant,,ENST00000592543,;	1203	27	33	SUCCESS
PTBP1	5725	.	GRCh37	19	808555	808555	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	6	48	0	ENST00000349038.4:c.1178A>G	p.His393Arg	p.H393R	ENST00000349038	NM_031991.3	393	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS42456.1	1256	MUTECT|MUSE	.	GAGCCACCTGA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF17,Pfam_domain:PF13893,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01649,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000349428	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000356948	Transcript	.	.	ENSG00000011304	9583	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	PTBP1_HUMAN	PTBP1	HGNC	.	.	UPI00000720B7	SNV	PTBP1,missense_variant,p.His393Arg,ENST00000349038,;PTBP1,missense_variant,p.His226Arg,ENST00000585956,;PTBP1,missense_variant,p.His412Arg,ENST00000394601,;PTBP1,missense_variant,p.His419Arg,ENST00000356948,;PTBP1,missense_variant,p.His59Arg,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000589575,;LPPR3,downstream_gene_variant,,ENST00000359894,;PTBP1,downstream_gene_variant,,ENST00000586481,;LPPR3,downstream_gene_variant,,ENST00000520876,;PTBP1,downstream_gene_variant,,ENST00000585535,;PTBP1,downstream_gene_variant,,ENST00000587094,;MIR4745,downstream_gene_variant,,ENST00000577608,;PTBP1,non_coding_transcript_exon_variant,,ENST00000585932,;PTBP1,non_coding_transcript_exon_variant,,ENST00000587191,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000589770,;PTBP1,non_coding_transcript_exon_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000589569,;PTBP1,downstream_gene_variant,,ENST00000589883,;PTBP1,downstream_gene_variant,,ENST00000592804,;PTBP1,downstream_gene_variant,,ENST00000592113,;PTBP1,downstream_gene_variant,,ENST00000590887,;PTBP1,downstream_gene_variant,,ENST00000587136,;	1679	49	89	SUCCESS
CAPZA1	829	.	GRCh37	1	113212621	113212621	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	57	132	0	ENST00000263168.3:c.728T>G	p.Ile243Ser	p.I243S	ENST00000263168	NM_006135.2	243	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS30805.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAATTAGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF2,Pfam_domain:PF01267,Superfamily_domains:SSF90096	.	.	ENSP00000263168	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263168	Transcript	.	.	ENSG00000116489	1488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CAZA1_HUMAN	CAPZA1	HGNC	.	.	UPI00001270FA	SNV	CAPZA1,missense_variant,p.Ile243Ser,ENST00000263168,;MOV10,upstream_gene_variant,,ENST00000369644,;MOV10,upstream_gene_variant,,ENST00000357443,;MOV10,upstream_gene_variant,,ENST00000369645,;MOV10,upstream_gene_variant,,ENST00000413052,;MOV10,upstream_gene_variant,,ENST00000544796,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000476936,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000466066,;MOV10,upstream_gene_variant,,ENST00000475429,;CAPZA1,downstream_gene_variant,,ENST00000476820,;MOV10,upstream_gene_variant,,ENST00000465579,;MOV10,upstream_gene_variant,,ENST00000468624,;CAPZA1,downstream_gene_variant,,ENST00000498626,;MOV10,upstream_gene_variant,,ENST00000496577,;MOV10,upstream_gene_variant,,ENST00000486416,;	1400	132	115	SUCCESS
PLOD1	5351	.	GRCh37	1	12023642	12023642	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	58	0	ENST00000196061.4:c.1151A>C	p.Asp384Ala	p.D384A	ENST00000196061	NM_000302.3	384	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS142.1	1151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGACGTGG	NONE	.	.	hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF5,Superfamily_domains:SSF53448	.	.	ENSP00000196061	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000196061	Transcript	.	.	ENSG00000083444	9081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.03)	.	PLOD1_HUMAN	PLOD1	HGNC	Q9UL44_HUMAN	.	UPI000013C611	SNV	PLOD1,missense_variant,p.Asp431Ala,ENST00000376369,;PLOD1,missense_variant,p.Asp384Ala,ENST00000196061,;PLOD1,downstream_gene_variant,,ENST00000485046,;PLOD1,upstream_gene_variant,,ENST00000491536,;PLOD1,upstream_gene_variant,,ENST00000470133,;PLOD1,downstream_gene_variant,,ENST00000465920,;	1178	58	44	SUCCESS
XPR1	9213	.	GRCh37	1	180794056	180794056	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	15	50	0	ENST00000367590.4:c.931T>C	p.Leu311=	p.L311=	ENST00000367590	NM_004736.3	311	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1340.1	931	RADIA|MUTECT|MUSE|VARSCANS	.	GCAATTTGTCT	NONE	.	.	Pfam_domain:PF03124,hmmpanther:PTHR10783:SF4,hmmpanther:PTHR10783	.	.	ENSP00000356562	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000367590	Transcript	.	.	ENSG00000143324	12827	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XPR1_HUMAN	XPR1	HGNC	.	.	UPI0000071111	SNV	XPR1,synonymous_variant,p.%3D,ENST00000367589,;XPR1,synonymous_variant,p.%3D,ENST00000367590,;AL590085.1,downstream_gene_variant,,ENST00000579998,;	1129	50	105	SUCCESS
RYR2	6262	.	GRCh37	1	237670087	237670087	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	36	0	ENST00000366574.2:c.2691A>G	p.Lys897=	p.K897=	ENST00000366574	NM_001035.2	897	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS55691.1	2691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAAAATTGA	NONE	.	.	Prints_domain:PR00795,Pfam_domain:PF02026,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	23/105	.	.	.	.	.	.	.	.	.	23/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	3008	36	80	SUCCESS
NCDN	23154	.	GRCh37	1	36024726	36024726	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	61	147	0	ENST00000356090.4:c.52A>T	p.Met18Leu	p.M18L	ENST00000356090	NM_001014839.1	18	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS392.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCATGGCC	NONE	.	.	hmmpanther:PTHR13109	.	.	ENSP00000362340	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000373243	Transcript	.	.	ENSG00000020129	17597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	deleterious_low_confidence(0)	.	NCDN_HUMAN	NCDN	HGNC	C9J5H8_HUMAN,B4DJ92_HUMAN	.	UPI000007147C	SNV	NCDN,start_lost,p.Met1?,ENST00000373253,;NCDN,start_lost,p.Met1?,ENST00000437806,;NCDN,missense_variant,p.Met18Leu,ENST00000356090,;NCDN,missense_variant,p.Met18Leu,ENST00000373243,;KIAA0319L,upstream_gene_variant,,ENST00000440579,;KIAA0319L,upstream_gene_variant,,ENST00000325722,;KIAA0319L,upstream_gene_variant,,ENST00000426982,;NCDN,upstream_gene_variant,,ENST00000423723,;KIAA0319L,upstream_gene_variant,,ENST00000469892,;KIAA0319L,upstream_gene_variant,,ENST00000494948,;NCDN,non_coding_transcript_exon_variant,,ENST00000459931,;KIAA0319L,upstream_gene_variant,,ENST00000476329,;KIAA0319L,upstream_gene_variant,,ENST00000492888,;KIAA0319L,upstream_gene_variant,,ENST00000473465,;KIAA0319L,upstream_gene_variant,,ENST00000478463,;KIAA0319L,upstream_gene_variant,,ENST00000470388,;KIAA0319L,upstream_gene_variant,,ENST00000482929,;	435	147	125	SUCCESS
GBP5	115362	.	GRCh37	1	89726418	89726419	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	50	0	ENST00000370459.3:c.1729_1730del	p.Val577Ter	p.V577*	ENST00000370459		577	GTt/t	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS722.1	1729-1730	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATTAACAGTCC	NONE	.	.	hmmpanther:PTHR10751:SF40,hmmpanther:PTHR10751	.	.	ENSP00000340396	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000343435	Transcript	.	.	ENSG00000154451	19895	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBP5_HUMAN	GBP5	HGNC	E7ETN8_HUMAN	.	UPI000004B6D7	deletion	GBP5,frameshift_variant,p.Val577Ter,ENST00000343435,;GBP5,frameshift_variant,p.Val577Ter,ENST00000370459,;GBP5,downstream_gene_variant,,ENST00000443807,;RP4-620F22.2,non_coding_transcript_exon_variant,,ENST00000437128,;GBP5,non_coding_transcript_exon_variant,,ENST00000471171,;GBP5,non_coding_transcript_exon_variant,,ENST00000490568,;GBP5,non_coding_transcript_exon_variant,,ENST00000481145,;	2266-2267	50	65	SUCCESS
PRPF6	24148	.	GRCh37	20	62659867	62659867	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	40	0	ENST00000266079.4:c.2376G>A	p.Leu792=	p.L792=	ENST00000266079	NM_012469.3	792	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13550.1	2376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGAAGAA	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR11246:SF12,hmmpanther:PTHR11246,Gene3D:1.25.40.10,SMART_domains:SM00386,Superfamily_domains:SSF48452	.	.	ENSP00000266079	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000266079	Transcript	1	.	ENSG00000101161	15860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP6_HUMAN	PRPF6	HGNC	.	.	UPI0000132356	SNV	PRPF6,synonymous_variant,p.%3D,ENST00000535781,;PRPF6,synonymous_variant,p.%3D,ENST00000266079,;ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,intron_variant,,ENST00000217130,;	2487	40	38	SUCCESS
MORC3	23515	.	GRCh37	21	37736428	37736428	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	77	0	ENST00000400485.1:c.1490C>A	p.Ser497Ter	p.S497*	ENST00000400485	NM_015358.2	497	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS42924.1	1490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCAACTC	NONE	.	.	hmmpanther:PTHR23336:SF12,hmmpanther:PTHR23336	.	.	ENSP00000383333	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000400485	Transcript	.	.	ENSG00000159256	23572	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MORC3_HUMAN	MORC3	HGNC	Q86YD6_HUMAN,H0YHQ4_HUMAN,B4DHJ4_HUMAN,A2RU29_HUMAN	.	UPI0000167F94	SNV	MORC3,stop_gained,p.Ser497Ter,ENST00000400485,;AP000692.9,downstream_gene_variant,,ENST00000397184,;MORC3,non_coding_transcript_exon_variant,,ENST00000487909,;MORC3,downstream_gene_variant,,ENST00000485299,;MORC3,non_coding_transcript_exon_variant,,ENST00000484028,;	1566	77	81	SUCCESS
TYMP	1890	.	GRCh37	22	50968105	50968105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	103	0	ENST00000252029.3:c.34C>T	p.Pro12Ser	p.P12S	ENST00000252029	NM_001953.4	12	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS58811.1	34	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGGGCCC	NONE	.	.	PIRSF_domain:PIRSF000478,hmmpanther:PTHR10515:SF1,hmmpanther:PTHR10515,Low_complexity_(Seg):seg	.	.	ENSP00000379038	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000395681	Transcript	.	.	ENSG00000025708	3148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	tolerated_low_confidence(0.06)	.	TYPH_HUMAN	TYMP	HGNC	.	.	UPI000155D5D9	SNV	TYMP,missense_variant,p.Pro12Ser,ENST00000425169,;TYMP,missense_variant,p.Pro12Ser,ENST00000252029,;TYMP,missense_variant,p.Pro12Ser,ENST00000395678,;TYMP,missense_variant,p.Pro12Ser,ENST00000395681,;TYMP,missense_variant,p.Pro12Ser,ENST00000395680,;ODF3B,downstream_gene_variant,,ENST00000428989,;ODF3B,downstream_gene_variant,,ENST00000403326,;SCO2,upstream_gene_variant,,ENST00000395693,;ODF3B,downstream_gene_variant,,ENST00000401779,;ODF3B,downstream_gene_variant,,ENST00000405135,;SCO2,upstream_gene_variant,,ENST00000252785,;SCO2,upstream_gene_variant,,ENST00000423348,;SCO2,upstream_gene_variant,,ENST00000543927,;ODF3B,downstream_gene_variant,,ENST00000437588,;SCO2,upstream_gene_variant,,ENST00000439934,;SCO2,upstream_gene_variant,,ENST00000535425,;ODF3B,downstream_gene_variant,,ENST00000329363,;CTA-384D8.36,downstream_gene_variant,,ENST00000608319,;TYMP,non_coding_transcript_exon_variant,,ENST00000487577,;TYMP,non_coding_transcript_exon_variant,,ENST00000487162,;TYMP,non_coding_transcript_exon_variant,,ENST00000476284,;ODF3B,downstream_gene_variant,,ENST00000469660,;ODF3B,downstream_gene_variant,,ENST00000463472,;ODF3B,downstream_gene_variant,,ENST00000468249,;	156	103	53	SUCCESS
GREB1	9687	.	GRCh37	2	11738866	11738866	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	67	0	ENST00000234142.5:c.2213A>G	p.Tyr738Cys	p.Y738C	ENST00000234142		738	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS42655.1	2213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTATGTTC	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	15/33	.	.	.	.	.	.	.	.	COSM1668715	15/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.819)	.	deleterious(0)	1	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,missense_variant,p.Tyr738Cys,ENST00000234142,;GREB1,missense_variant,p.Tyr372Cys,ENST00000432985,;GREB1,missense_variant,p.Tyr738Cys,ENST00000381486,;	2513	67	64	SUCCESS
XIRP2	129446	.	GRCh37	2	168108386	168108386	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	69	0	ENST00000409195.1:c.10484G>T	p.Gly3495Val	p.G3495V	ENST00000409195	NM_152381.5	3495	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS42769.1	10484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGATATG	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Gly3273Val,ENST00000409273,;XIRP2,missense_variant,p.Gly3495Val,ENST00000409195,;XIRP2,missense_variant,p.Gly3495Val,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	10573	69	47	SUCCESS
ABCB11	8647	.	GRCh37	2	169847362	169847362	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	58	0	ENST00000263817.6:c.857C>T	p.Ser286Leu	p.S286L	ENST00000263817	NM_003742.2	286	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS46444.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGAAATG	NONE	.	.	PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000263817	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000263817	Transcript	.	.	ENSG00000073734	42	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0.01)	.	ABCBB_HUMAN	ABCB11	HGNC	Q9UIL3_HUMAN,Q53S60_HUMAN,B4DYQ0_HUMAN	.	UPI0000163BFA	SNV	ABCB11,missense_variant,p.Ser286Leu,ENST00000263817,;	982	58	44	SUCCESS
APOB	338	.	GRCh37	2	21229489	21229489	+	synonymous_variant	Silent	SNP	G	G	T	rs374560333	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	58	0	ENST00000233242.1:c.10251C>A	p.Thr3417=	p.T3417=	ENST00000233242	NM_000384.2	3417	acC/acA	0	A:0	.	.	.	.	T	T	protein_coding	YES	CCDS1703.1	10251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGTGGTTAA	NONE	byCluster	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	A:0.0001	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	rs374560333	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,synonymous_variant,p.%3D,ENST00000233242,;	10379	58	56	SUCCESS
VIL1	7429	.	GRCh37	2	219305556	219305556	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	77	0	ENST00000248444.5:c.2341C>T	p.Pro781Ser	p.P781S	ENST00000248444	NM_007127.2	781	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS2417.1	2341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCCCGAG	NONE	.	.	Superfamily_domains:SSF47050,Gene3D:1.10.950.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35,PROSITE_profiles:PS51089	.	.	ENSP00000248444	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000248444	Transcript	.	.	ENSG00000127831	12690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0)	.	VILI_HUMAN	VIL1	HGNC	Q53S11_HUMAN,B4DV78_HUMAN	.	UPI000013CC45	SNV	VIL1,missense_variant,p.Pro470Ser,ENST00000392114,;VIL1,missense_variant,p.Pro781Ser,ENST00000248444,;VIL1,downstream_gene_variant,,ENST00000419986,;	2429	77	76	SUCCESS
SPHKAP	80309	.	GRCh37	2	228882606	228882606	+	synonymous_variant	Silent	SNP	G	G	A	rs771825169	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	73	0	ENST00000392056.3:c.2964C>T	p.Ser988=	p.S988=	ENST00000392056	NM_001142644.1	988	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46537.1	2964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGCTCCC	SITE|p.S988S|c.2964C>T|3,SITE|p.S988S|c.2964C>T|3	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	.	.	ENSP00000375909	.	7/12	.	.	.	.	.	.	.	.	rs771825169,COSM1752408,COSM318076,COSM1752407,COSM318077	7/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	.	.	.	0,1,1,1,1	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,synonymous_variant,p.%3D,ENST00000344657,;SPHKAP,synonymous_variant,p.%3D,ENST00000392056,;	3011	73	46	SUCCESS
PER2	8864	.	GRCh37	2	239161897	239161897	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762129345	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	53	0	ENST00000254657.3:c.2767G>A	p.Ala923Thr	p.A923T	ENST00000254657	NM_022817.2	923	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2528.1	2767	RADIA|MUSE|VARSCANS	.	GAAGGCCTGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	.	.	ENSP00000254657	.	19/23	.	.	.	.	.	.	.	.	rs762129345	19/23	PASS	ENST00000254657	Transcript	.	.	ENSG00000132326	8846	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.099)	.	tolerated(0.48)	.	PER2_HUMAN	PER2	HGNC	Q6DT41_HUMAN,E9PD89_HUMAN	.	UPI000013161D	SNV	PER2,missense_variant,p.Ala923Thr,ENST00000254657,;PER2,3_prime_UTR_variant,,ENST00000254658,;AC096574.4,intron_variant,,ENST00000456601,;	3047	53	44	SUCCESS
FUNDC2P2	388965	.	GRCh37	2	84518479	84518479	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	12	0	ENST00000538499.1:n.674C>T		p.*225*	ENST00000538499				0	.	.	.	.	.	T	.	transcribed_processed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE	.	CCCTCCTCCTC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000538499	Transcript	.	.	ENSG00000182814	17247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FUNDC2P2	HGNC	.	.	.	SNV	FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000331369,;FUNDC2P2,non_coding_transcript_exon_variant,,ENST00000538499,;FUNDC2P2,downstream_gene_variant,,ENST00000443452,;	674	12	12	SUCCESS
IGKV1D-16	28901	.	GRCh37	2	90139377	90139377	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs184550323	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	58	272	0	ENST00000492446.1:c.148G>A	p.Gly50Ser	p.G50S	ENST00000492446		50	Ggt/Agt	0	A:0.0005	A:0.0015	.	A:0	.	A	G/S	IG_V_gene	YES	.	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGGTATT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	A:0	A:0	ENSP00000418200	A:0	2/2	.	.	.	.	.	.	.	.	rs184550323	2/2	PASS	ENST00000492446	Transcript	.	A:0.0004	ENSG00000241244	5748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	tolerated(1)	.	.	IGKV1D-16	HGNC	.	.	UPI0000116772	SNV	IGKV1D-16,missense_variant,p.Gly50Ser,ENST00000492446,;AC073416.1,upstream_gene_variant,,ENST00000323194,;	175	272	228	SUCCESS
TRIM43	129868	.	GRCh37	2	96259887	96259887	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1447401935	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	154	7	231	0	ENST00000272395.2:c.116T>A	p.Leu39His	p.L39H	ENST00000272395	NM_138800.1	39	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS2015.1	116	MUTECT|MUSE	.	CTGTCTCTGCC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276,PROSITE_patterns:PS00518,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000272395	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000272395	Transcript	.	.	ENSG00000144015	19015	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TRI43_HUMAN	TRIM43	HGNC	.	.	UPI000006E7BB	SNV	TRIM43,missense_variant,p.Leu39His,ENST00000272395,;AC009237.13,upstream_gene_variant,,ENST00000441078,;	252	231	161	SUCCESS
CNGA3	1261	.	GRCh37	2	99012595	99012595	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	47	100	0	ENST00000272602.2:c.962A>G	p.Tyr321Cys	p.Y321C	ENST00000272602		321	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2034.1	962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTACTTTG	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390,Transmembrane_helices:TMhelix	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Tyr325Cys,ENST00000409937,;CNGA3,missense_variant,p.Tyr303Cys,ENST00000436404,;CNGA3,missense_variant,p.Tyr321Cys,ENST00000393504,;CNGA3,missense_variant,p.Tyr321Cys,ENST00000272602,;	1379	100	77	SUCCESS
TAF1B	9014	.	GRCh37	2	9994549	9994563	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CGGTAAGTCACAAGT	CGGTAAGTCACAAGT	-	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	CGGTAAGTCACAAGT	CGGTAAGTCACAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	90	0	ENST00000263663.5:c.399_399+14del		p.X133_splice	ENST00000263663	NM_005680.2	133		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33143.1	398-?	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCTACGGTAAGTCACAAGTCTGAA	NONE	.	.	.	.	.	ENSP00000263663	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000263663	Transcript	.	.	ENSG00000115750	11533	1	.	HIGH	5/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TAF1B_HUMAN	TAF1B	HGNC	.	.	UPI0000208E44	deletion	TAF1B,splice_donor_variant,,ENST00000263663,;TAF1B,splice_donor_variant,,ENST00000396242,;TAF1B,splice_donor_variant,,ENST00000402170,;TAF1B,splice_donor_variant,,ENST00000469895,;TAF1B,splice_donor_variant,,ENST00000480197,;TAF1B,downstream_gene_variant,,ENST00000490432,;TAF1B,downstream_gene_variant,,ENST00000404869,;TAF1B,splice_donor_variant,,ENST00000434858,;	586-?	90	64	SUCCESS
MYH15	22989	.	GRCh37	3	108117574	108117574	+	synonymous_variant	Silent	SNP	C	C	T	rs760232088	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	59	0	ENST00000273353.3:c.5103G>A	p.Arg1701=	p.R1701=	ENST00000273353	NM_014981.1	1701	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS43127.1	5103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACCTTAG	NONE	byFrequency	.	Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	36/42	.	.	.	.	.	.	.	.	rs760232088	36/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,synonymous_variant,p.%3D,ENST00000273353,;	5160	59	40	SUCCESS
RUVBL1	8607	.	GRCh37	3	127831762	127831762	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	111	0	ENST00000322623.5:c.330G>A	p.Glu110=	p.E110=	ENST00000322623	NM_003707.2	110	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS3047.1	330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCTCTGT	NONE	.	.	hmmpanther:PTHR11093,Pfam_domain:PF06068,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000318297	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000322623	Transcript	.	.	ENSG00000175792	10474	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUVB1_HUMAN	RUVBL1	HGNC	J3QLR1_HUMAN	.	UPI0000044739	SNV	RUVBL1,synonymous_variant,p.%3D,ENST00000464873,;RUVBL1,synonymous_variant,p.%3D,ENST00000322623,;RUVBL1,synonymous_variant,p.%3D,ENST00000417360,;	430	111	54	SUCCESS
GRK7	131890	.	GRCh37	3	141497429	141497429	+	synonymous_variant	Silent	SNP	C	C	A	rs756403402	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	87	0	ENST00000264952.2:c.303C>A	p.Thr101=	p.T101=	ENST00000264952	NM_139209.2	101	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3120.1	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCAAAGA	NONE	byFrequency	.	PROSITE_profiles:PS50132,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000264952	.	1/4	.	.	.	.	.	.	.	.	rs756403402	1/4	PASS	ENST00000264952	Transcript	.	.	ENSG00000114124	17031	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRK7_HUMAN	GRK7	HGNC	.	.	UPI000004244D	SNV	GRK7,synonymous_variant,p.%3D,ENST00000264952,;	440	87	63	SUCCESS
GPR149	344758	.	GRCh37	3	154055628	154055628	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	56	85	0	ENST00000389740.2:c.2056A>G	p.Asn686Asp	p.N686D	ENST00000389740	NM_001038705.1	686	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS43162.1	2056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATTAATAT	NONE	.	.	.	.	.	ENSP00000374390	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,missense_variant,p.Asn686Asp,ENST00000389740,;	2156	85	106	SUCCESS
NFKB1	4790	.	GRCh37	4	103518690	103518690	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	31	0	ENST00000394820.4:c.1506A>G	p.Leu502=	p.L502=	ENST00000394820		502	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3657.1	1509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTAGAGAA	NONE	.	.	hmmpanther:PTHR24169:SF9,hmmpanther:PTHR24169	.	.	ENSP00000226574	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000226574	Transcript	.	.	ENSG00000109320	7794	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFKB1_HUMAN	NFKB1	HGNC	D6RF93_HUMAN,D6RC45_HUMAN	.	UPI0000192724	SNV	NFKB1,synonymous_variant,p.%3D,ENST00000600343,;NFKB1,synonymous_variant,p.%3D,ENST00000505458,;NFKB1,synonymous_variant,p.%3D,ENST00000394820,;NFKB1,synonymous_variant,p.%3D,ENST00000226574,;NFKB1,downstream_gene_variant,,ENST00000508584,;NFKB1,downstream_gene_variant,,ENST00000504044,;	1976	31	21	SUCCESS
INTS12	57117	.	GRCh37	4	106603913	106603913	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	55	107	0	ENST00000340139.5:c.1366G>T	p.Ala456Ser	p.A456S	ENST00000340139	NM_020395.3	456	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3671.1	1366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGCAGCTT	NONE	.	.	hmmpanther:PTHR13415,Low_complexity_(Seg):seg	.	.	ENSP00000415433	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000451321	Transcript	.	.	ENSG00000138785	25067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	INT12_HUMAN	INTS12	HGNC	E9PGI3_HUMAN,C9JDP3_HUMAN,C9J0M6_HUMAN	.	UPI0000072C63	SNV	INTS12,missense_variant,p.Ala456Ser,ENST00000451321,;INTS12,missense_variant,p.Ala456Ser,ENST00000394735,;INTS12,missense_variant,p.Ala456Ser,ENST00000340139,;ARHGEF38,downstream_gene_variant,,ENST00000420470,;ARHGEF38,intron_variant,,ENST00000503289,;INTS12,downstream_gene_variant,,ENST00000493425,;RP11-311D14.1,upstream_gene_variant,,ENST00000503155,;	1846	107	102	SUCCESS
PDS5A	23244	.	GRCh37	4	39905761	39905761	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	47	0	ENST00000303538.8:c.1284A>G	p.Lys428=	p.K428=	ENST00000303538	NM_001100399.1	428	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS47045.1	1284	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTATTTCTT	NONE	.	.	hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000303427	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000303538	Transcript	.	.	ENSG00000121892	29088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDS5A_HUMAN	PDS5A	HGNC	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN	.	UPI00006C6A7E	SNV	PDS5A,synonymous_variant,p.%3D,ENST00000503396,;PDS5A,synonymous_variant,p.%3D,ENST00000513798,;PDS5A,synonymous_variant,p.%3D,ENST00000303538,;PDS5A,3_prime_UTR_variant,,ENST00000512643,;PDS5A,non_coding_transcript_exon_variant,,ENST00000503867,;	1824	47	52	SUCCESS
GABRG1	2565	.	GRCh37	4	46066470	46066470	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	80	319	0	ENST00000295452.4:c.613G>C	p.Glu205Gln	p.E205Q	ENST00000295452	NM_173536.3	205	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS3470.1	613	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTCCAGTG	BUFFER|p.E205K|c.613G>A|4	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	.	.	ENSP00000295452	.	5/9	.	.	.	.	.	.	.	.	COSM3604094	5/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.963)	.	tolerated(0.17)	1	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,missense_variant,p.Glu205Gln,ENST00000295452,;	781	319	290	SUCCESS
KDR	3791	.	GRCh37	4	55946235	55946235	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	119	0	ENST00000263923.4:c.3944A>G	p.Asp1315Gly	p.D1315G	ENST00000263923	NM_002253.2	1315	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3497.1	3944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTCTGTG	NONE	.	.	.	.	.	ENSP00000263923	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	tolerated(0.4)	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,missense_variant,p.Asp1315Gly,ENST00000263923,;RP11-530I17.1,intron_variant,,ENST00000511222,;	4240	119	86	SUCCESS
FBN2	2201	.	GRCh37	5	127744387	127744387	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1204127908	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	97	206	0	ENST00000262464.4:c.1058C>T	p.Thr353Ile	p.T353I	ENST00000262464	NM_001999.3	353	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS34222.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGTTGAG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	14/71	.	.	.	.	.	.	.	.	.	14/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.258)	.	tolerated(0.17)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Thr353Ile,ENST00000262464,;FBN2,missense_variant,p.Thr353Ile,ENST00000508053,;FBN2,missense_variant,p.Thr320Ile,ENST00000508989,;	2033	206	247	SUCCESS
CDH18	1016	.	GRCh37	5	19747162	19747162	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	98	0	ENST00000274170.4:c.412C>A	p.Pro138Thr	p.P138T	ENST00000274170		138	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS3889.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGTTTGT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	.	.	ENSP00000425093	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0.01)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Pro138Thr,ENST00000274170,;CDH18,missense_variant,p.Pro138Thr,ENST00000506372,;CDH18,missense_variant,p.Pro138Thr,ENST00000507958,;CDH18,missense_variant,p.Pro138Thr,ENST00000502796,;CDH18,missense_variant,p.Pro84Thr,ENST00000515257,;CDH18,missense_variant,p.Pro138Thr,ENST00000382275,;CDH18,missense_variant,p.Pro138Thr,ENST00000511273,;CDH18,non_coding_transcript_exon_variant,,ENST00000508350,;	1403	98	99	SUCCESS
SGK1	6446	.	GRCh37	6	134495144	134495146	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	GGA	GGA	-	rs1210359128	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	GGA	GGA	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	60	0	ENST00000237305.7:c.225_227del	p.Pro77del	p.P77del	ENST00000237305	NM_005627.3	75	ccTCCa/cca	0	.	.	.	.	.	-	PP/P	protein_coding	YES	CCDS47476.1	510-512	VARSCANI*|PINDEL	.	CTTACTGGAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24356:SF148,hmmpanther:PTHR24356,Superfamily_domains:SSF56112	.	.	ENSP00000356832	.	5/14	.	.	.	.	.	.	.	.	COSM1073568,COSM1073569,COSM1073566,COSM1595867,COSM1073567	5/14	PASS	ENST00000367858	Transcript	.	.	ENSG00000118515	10810	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1,1,1,1	.	.	.	.	.	1,1,1,1,1	SGK1_HUMAN	SGK1	HGNC	E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN	.	UPI000013CA0E	deletion	SGK1,inframe_deletion,p.Pro77del,ENST00000237305,;SGK1,inframe_deletion,p.Pro172del,ENST00000367858,;SGK1,inframe_deletion,p.Pro105del,ENST00000528577,;SGK1,inframe_deletion,p.Pro91del,ENST00000413996,;SGK1,inframe_deletion,p.Pro67del,ENST00000367857,;SGK1,inframe_deletion,p.Pro77del,ENST00000475719,;SGK1,inframe_deletion,p.Pro141del,ENST00000461976,;SGK1,splice_region_variant,,ENST00000524387,;SGK1,splice_region_variant,,ENST00000489458,;SGK1,splice_region_variant,,ENST00000531575,;SGK1,splice_region_variant,,ENST00000534658,;SGK1,splice_region_variant,,ENST00000532021,;SGK1,splice_region_variant,,ENST00000532856,;SGK1,splice_region_variant,,ENST00000475882,;SGK1,splice_region_variant,,ENST00000490149,;SGK1,splice_region_variant,,ENST00000367855,;SGK1,non_coding_transcript_exon_variant,,ENST00000530421,;SGK1,non_coding_transcript_exon_variant,,ENST00000474427,;SGK1,non_coding_transcript_exon_variant,,ENST00000472859,;SGK1,non_coding_transcript_exon_variant,,ENST00000525700,;SGK1,upstream_gene_variant,,ENST00000524764,;SGK1,upstream_gene_variant,,ENST00000531782,;SGK1,upstream_gene_variant,,ENST00000473704,;SGK1,upstream_gene_variant,,ENST00000477460,;SGK1,upstream_gene_variant,,ENST00000525877,;	1108-1110	60	51	SUCCESS
ECT2L	345930	.	GRCh37	6	139134461	139134461	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs369742195	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	60	0	ENST00000367682.2:c.50A>T	p.Lys17Met	p.K17M	ENST00000367682	NM_001077706.2	17	aAg/aTg	0	G:0.0005	.	.	.	.	T	K/M	protein_coding	YES	CCDS43508.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAAGTCAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12673:SF70,hmmpanther:PTHR12673	.	G:0	ENSP00000387388	.	2/21	.	.	.	.	.	.	.	.	rs369742195	2/21	PASS	ENST00000423192	Transcript	.	.	ENSG00000203734	21118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.263)	.	deleterious(0.03)	.	ECT2L_HUMAN	ECT2L	HGNC	B7ZBI6_HUMAN	.	UPI0000E86804	SNV	ECT2L,missense_variant,p.Lys17Met,ENST00000367682,;ECT2L,missense_variant,p.Lys17Met,ENST00000401414,;ECT2L,missense_variant,p.Lys17Met,ENST00000423192,;ECT2L,upstream_gene_variant,,ENST00000541398,;	211	60	83	SUCCESS
SOD2	6648	.	GRCh37	6	160114202	160114202	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	12	0	ENST00000538183.2:c.-3A>T		p.*1*	ENST00000538183	NM_000636.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5265.1	.	RADIA|MUTECT|MUSE	.	CATGCTGCTAG	NONE	.	.	.	.	.	ENSP00000446252	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000538183	Transcript	.	.	ENSG00000112096	11180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SODM_HUMAN	SOD2	HGNC	Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN	.	UPI000006D275	SNV	SOD2,5_prime_UTR_variant,,ENST00000452684,;SOD2,5_prime_UTR_variant,,ENST00000367054,;SOD2,5_prime_UTR_variant,,ENST00000367055,;SOD2,5_prime_UTR_variant,,ENST00000444946,;SOD2,5_prime_UTR_variant,,ENST00000538183,;SOD2,5_prime_UTR_variant,,ENST00000337404,;SOD2,intron_variant,,ENST00000545162,;SOD2,intron_variant,,ENST00000535561,;SOD2,intron_variant,,ENST00000537657,;SOD2,intron_variant,,ENST00000401980,;SOD2,intron_variant,,ENST00000546087,;SOD2,upstream_gene_variant,,ENST00000541573,;SOD2,upstream_gene_variant,,ENST00000540491,;SOD2,5_prime_UTR_variant,,ENST00000546260,;SOD2,upstream_gene_variant,,ENST00000535459,;	159	12	16	SUCCESS
C6orf120	387263	.	GRCh37	6	170102922	170102922	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	43	0	ENST00000332290.2:c.367T>A	p.Ser123Thr	p.S123T	ENST00000332290	NM_001029863.1	123	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS34575.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTCCCAC	NONE	.	.	hmmpanther:PTHR31703	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.03)	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,missense_variant,p.Ser142Thr,ENST00000439249,;C6orf120,missense_variant,p.Ser123Thr,ENST00000332290,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;PHF10,downstream_gene_variant,,ENST00000366780,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;PHF10,downstream_gene_variant,,ENST00000339209,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	666	43	33	SUCCESS
NOTCH4	4855	.	GRCh37	6	32163286	32163286	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	80	0	ENST00000375023.3:c.5940A>G	p.Ser1980=	p.S1980=	ENST00000375023	NM_004557.3	1980	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS34420.1	5940	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTGATCC	NONE	.	.	PIRSF_domain:PIRSF002279	.	.	ENSP00000364163	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,synonymous_variant,p.%3D,ENST00000375023,;GPSM3,5_prime_UTR_variant,,ENST00000375043,;GPSM3,upstream_gene_variant,,ENST00000487761,;NOTCH4,downstream_gene_variant,,ENST00000443903,;GPSM3,upstream_gene_variant,,ENST00000375040,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	6079	80	53	SUCCESS
RREB1	6239	.	GRCh37	6	7231437	7231437	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	38	0	ENST00000349384.6:c.3105C>A	p.Leu1035=	p.L1035=	ENST00000349384	NM_001003698.3	1035	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34335.1	3105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCCTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42	.	.	ENSP00000369270	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000379938	Transcript	.	.	ENSG00000124782	10449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RREB1_HUMAN	RREB1	HGNC	C9JU34_HUMAN,C9JPJ6_HUMAN,C9JE09_HUMAN	.	UPI000020E496	SNV	RREB1,synonymous_variant,p.%3D,ENST00000349384,;RREB1,synonymous_variant,p.%3D,ENST00000334984,;RREB1,synonymous_variant,p.%3D,ENST00000379938,;RREB1,synonymous_variant,p.%3D,ENST00000379933,;RREB1,downstream_gene_variant,,ENST00000483150,;	3642	38	42	SUCCESS
MDFIC	29969	.	GRCh37	7	114619638	114619638	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs548881845	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	15	135	0	ENST00000393486.1:c.295G>C	p.Gly99Arg	p.G99R	ENST00000393486	NM_001166345.1	99	Ggc/Cgc	0	.	A:0	.	A:0	.	C	G/R	protein_coding	YES	CCDS34737.1	622	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACGGCCAC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR15304,hmmpanther:PTHR15304:SF0,Pfam_domain:PF15316	A:0	.	ENSP00000257724	A:0	4/5	.	.	.	.	.	.	.	.	rs548881845	4/5	PASS	ENST00000257724	Transcript	.	A:0.0006	ENSG00000135272	28870	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	A:0.0031	deleterious(0)	.	.	MDFIC	HGNC	J3KN13_HUMAN,C9J784_HUMAN	.	UPI000013CF80	SNV	MDFIC,missense_variant,p.Gly208Arg,ENST00000257724,;MDFIC,missense_variant,p.Gly85Arg,ENST00000427207,;MDFIC,missense_variant,p.Gly99Arg,ENST00000393486,;MDFIC,missense_variant,p.Gly44Arg,ENST00000498196,;MDFIC,missense_variant,p.Gly89Arg,ENST00000431629,;	885	135	142	SUCCESS
NPC1L1	29881	.	GRCh37	7	44555486	44555486	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs776713505	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	50	82	0	ENST00000289547.4:c.3793T>A	p.Phe1265Ile	p.F1265I	ENST00000289547	NM_013389.2	1265	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS5491.1	3793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAAGATCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF82866,Gene3D:2j8sB01,Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	19/20	.	.	.	.	.	.	.	.	rs776713505	19/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,missense_variant,p.Phe1192Ile,ENST00000546276,;NPC1L1,missense_variant,p.Phe1238Ile,ENST00000381160,;NPC1L1,missense_variant,p.Phe1265Ile,ENST00000289547,;AC004938.5,upstream_gene_variant,,ENST00000438468,;	3849	82	70	SUCCESS
C7orf69	0	.	GRCh37	7	47849010	47849010	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	22	0	ENST00000258776.4:c.109-8614T>G		p.*37*	ENST00000258776	NM_025031.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34633.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTATTTTTTCA	NONE	.	.	.	.	.	ENSP00000289672	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODIFIER	51/56	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,3_prime_UTR_variant,,ENST00000433506,;C7orf69,intron_variant,,ENST00000418326,;PKD1L1,intron_variant,,ENST00000289672,;C7orf69,intron_variant,,ENST00000258776,;PKD1L1,non_coding_transcript_exon_variant,,ENST00000462350,;PKD1L1,non_coding_transcript_exon_variant,,ENST00000483616,;HUS1,intron_variant,,ENST00000436444,;	.	22	28	SUCCESS
RSPH10B2	728194	.	GRCh37	7	6797425	6797425	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	19	162	0	ENST00000297186.3:c.117G>A	p.Glu39=	p.E39=	ENST00000297186		39	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS43552.1	117	MUTECT|MUSE|VARSCANS	.	CAAGAGATGTC	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF131	.	.	ENSP00000384766	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000403107	Transcript	.	.	ENSG00000169402	34385	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	R10B2_HUMAN	RSPH10B2	HGNC	C9JJN2_HUMAN	.	UPI000020EAF6	SNV	RSPH10B2,synonymous_variant,p.%3D,ENST00000404077,;RSPH10B2,synonymous_variant,p.%3D,ENST00000403107,;RSPH10B2,synonymous_variant,p.%3D,ENST00000418406,;RSPH10B2,synonymous_variant,p.%3D,ENST00000297186,;RSPH10B2,synonymous_variant,p.%3D,ENST00000433859,;RSPH10B2,5_prime_UTR_variant,,ENST00000359718,;RSPH10B2,downstream_gene_variant,,ENST00000435395,;RSPH10B2,intron_variant,,ENST00000485129,;RSPH10B2,upstream_gene_variant,,ENST00000497737,;PMS2CL,downstream_gene_variant,,ENST00000486256,;RSPH10B2,upstream_gene_variant,,ENST00000463354,;RSPH10B2,upstream_gene_variant,,ENST00000489190,;	504	162	165	SUCCESS
PCLO	27445	.	GRCh37	7	82451998	82451998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	23	0	ENST00000333891.9:c.14604G>T	p.Gln4868His	p.Q4868H	ENST00000333891	NM_033026.5	4868	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47630.1	14604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTGCAT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Gln4868His,ENST00000333891,;PCLO,missense_variant,p.Gln4868His,ENST00000423517,;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,upstream_gene_variant,,ENST00000432078,;	14942	23	31	SUCCESS
VPS13B	157680	.	GRCh37	8	100883103	100883103	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	256	68	161	0	ENST00000358544.2:c.11558T>G	p.Val3853Gly	p.V3853G	ENST00000358544	NM_017890.4	3853	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS6280.1	11558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTCAAAT	NONE	.	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	60/62	.	.	.	.	.	.	.	.	.	60/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	deleterious(0)	.	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,missense_variant,p.Val3853Gly,ENST00000358544,;VPS13B,missense_variant,p.Val3828Gly,ENST00000357162,;VPS13B,3_prime_UTR_variant,,ENST00000395996,;VPS13B,non_coding_transcript_exon_variant,,ENST00000493587,;COX6C,downstream_gene_variant,,ENST00000522934,;COX6C,downstream_gene_variant,,ENST00000520517,;	11669	161	324	SUCCESS
TMEM71	137835	.	GRCh37	8	133734323	133734323	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs768399164	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	367	283	379	1	ENST00000356838.3:c.658C>G	p.Leu220Val	p.L220V	ENST00000356838	NM_144649.2	220	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS6366.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGGATTG	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000349296	.	7/10	.	.	.	.	.	.	.	.	rs768399164,COSM3645221,COSM3645222	7/10	PASS	ENST00000356838	Transcript	.	.	ENSG00000165071	26572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.671)	.	tolerated(0.1)	0,1,1	TMM71_HUMAN	TMEM71	HGNC	E5RH69_HUMAN,E5RGD3_HUMAN	.	UPI000013E44E	SNV	TMEM71,missense_variant,p.Leu220Val,ENST00000356838,;TMEM71,missense_variant,p.Leu239Val,ENST00000523829,;TMEM71,missense_variant,p.Leu176Val,ENST00000377901,;TMEM71,missense_variant,p.Leu77Val,ENST00000522780,;	801	380	650	SUCCESS
PSCA	8000	.	GRCh37	8	143763524	143763524	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	11	0	ENST00000301258.4:c.319C>T	p.Leu107=	p.L107=	ENST00000301258	NM_005672.4	107	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47925.2	319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCTGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16983:SF1,hmmpanther:PTHR16983	.	.	ENSP00000301258	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301258	Transcript	.	.	ENSG00000167653	9500	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSCA_HUMAN	PSCA	HGNC	D3DWI6_HUMAN	.	UPI000015B119	SNV	PSCA,synonymous_variant,p.%3D,ENST00000301258,;PSCA,downstream_gene_variant,,ENST00000513264,;PSCA,non_coding_transcript_exon_variant,,ENST00000510969,;JRK,upstream_gene_variant,,ENST00000585503,;JRK,upstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000587499,;JRK,upstream_gene_variant,,ENST00000591180,;PSCA,downstream_gene_variant,,ENST00000505305,;JRK,upstream_gene_variant,,ENST00000587883,;	402	11	39	SUCCESS
ADAM28	10863	.	GRCh37	8	24157559	24157559	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	15	24	0	ENST00000265769.4:c.119A>G	p.His40Arg	p.H40R	ENST00000265769	NM_014265.4	40	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS34865.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCATAAAA	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01562	.	.	ENSP00000265769	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000265769	Transcript	.	.	ENSG00000042980	206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.25)	.	ADA28_HUMAN	ADAM28	HGNC	E5RGY1_HUMAN	.	UPI000049E0B9	SNV	ADAM28,missense_variant,p.His40Arg,ENST00000437154,;ADAM28,missense_variant,p.His40Arg,ENST00000265769,;ADAM28,5_prime_UTR_variant,,ENST00000397649,;ADAM28,5_prime_UTR_variant,,ENST00000540823,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,downstream_gene_variant,,ENST00000519689,;RP11-624C23.1,downstream_gene_variant,,ENST00000523578,;ADAM28,missense_variant,p.His40Arg,ENST00000520448,;ADAM28,missense_variant,p.His40Arg,ENST00000523379,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523440,;	229	24	20	SUCCESS
CHD7	55636	.	GRCh37	8	61654307	61654307	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	28	78	0	ENST00000423902.2:c.316C>T	p.His106Tyr	p.H106Y	ENST00000423902	NM_017780.3	106	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS47865.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATCACACC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	.	.	ENSP00000392028	.	2/38	.	.	.	.	.	.	.	.	.	2/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,missense_variant,p.His106Tyr,ENST00000423902,;CHD7,missense_variant,p.His106Tyr,ENST00000524602,;CHD7,missense_variant,p.His106Tyr,ENST00000525508,;CHD7,downstream_gene_variant,,ENST00000526846,;CHD7,upstream_gene_variant,,ENST00000527825,;CHD7,upstream_gene_variant,,ENST00000527900,;	795	78	113	SUCCESS
GSN	2934	.	GRCh37	9	124065340	124065340	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	25	0	ENST00000373818.4:c.501C>G	p.Tyr167Ter	p.Y167*	ENST00000373818	NM_000177.4	167	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS6828.1	501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACAAGGT	NONE	.	.	Superfamily_domains:SSF55753,Gene3D:3.40.20.10,hmmpanther:PTHR11977:SF29,hmmpanther:PTHR11977	.	.	ENSP00000362924	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000373818	Transcript	.	.	ENSG00000148180	4620	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GELS_HUMAN	GSN	HGNC	Q5T0I0_HUMAN	.	UPI000012B3B4	SNV	GSN,stop_gained,p.Tyr167Ter,ENST00000373818,;GSN,stop_gained,p.Tyr116Ter,ENST00000373823,;GSN,stop_gained,p.Tyr116Ter,ENST00000341272,;GSN,stop_gained,p.Tyr127Ter,ENST00000449773,;GSN,stop_gained,p.Tyr116Ter,ENST00000449733,;GSN,stop_gained,p.Tyr124Ter,ENST00000545652,;GSN,stop_gained,p.Tyr127Ter,ENST00000394353,;GSN,stop_gained,p.Tyr127Ter,ENST00000436847,;GSN,stop_gained,p.Tyr116Ter,ENST00000412819,;GSN,stop_gained,p.Tyr116Ter,ENST00000373808,;GSN,stop_gained,p.Tyr116Ter,ENST00000432226,;GSN,non_coding_transcript_exon_variant,,ENST00000477863,;GSN,non_coding_transcript_exon_variant,,ENST00000475428,;GSN,non_coding_transcript_exon_variant,,ENST00000477104,;GSN,intron_variant,,ENST00000483960,;	570	25	36	SUCCESS
CSTF2	1478	.	GRCh37	X	100086583	100086583	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	60	0	ENST00000372972.2:c.969A>G	p.Gly323=	p.G323=	ENST00000372972	NM_001325.2	323	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS14473.1	969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGAGATGC	NONE	.	.	hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF57	.	.	ENSP00000362063	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000372972	Transcript	.	.	ENSG00000101811	2484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSTF2_HUMAN	CSTF2	HGNC	.	.	UPI000003BCAF	SNV	CSTF2,synonymous_variant,p.%3D,ENST00000372972,;CSTF2,synonymous_variant,p.%3D,ENST00000415585,;CSTF2,synonymous_variant,p.%3D,ENST00000475126,;	985	60	68	SUCCESS
FAM127A	0	.	GRCh37	X	134166686	134166686	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	47	129	0	ENST00000257013.7:c.273C>A	p.Leu91=	p.L91=	ENST00000257013	NM_001078171.1	91	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43997.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCAATGA	NONE	.	.	hmmpanther:PTHR15503:SF6,hmmpanther:PTHR15503	.	.	ENSP00000257013	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000257013	Transcript	.	.	ENSG00000134590	2569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F127A_HUMAN	FAM127A	HGNC	.	.	UPI00000373C5	SNV	FAM127A,synonymous_variant,p.%3D,ENST00000257013,;FAM127A,intron_variant,,ENST00000464369,;FAM127A,intron_variant,,ENST00000495563,;	354	129	124	SUCCESS
SSR4	6748	.	GRCh37	X	153060132	153060132	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	89	100	0	ENST00000320857.3:c.-11G>C		p.*4*	ENST00000320857	NM_001204526.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14731.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGAGAAG	NONE	.	.	.	.	.	ENSP00000317331	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000320857	Transcript	.	.	ENSG00000180879	11326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSRD_HUMAN	SSR4	HGNC	.	.	UPI0000136003	SNV	SSR4,5_prime_UTR_variant,,ENST00000370085,;SSR4,5_prime_UTR_variant,,ENST00000320857,;SSR4,5_prime_UTR_variant,,ENST00000370087,;SSR4,5_prime_UTR_variant,,ENST00000370086,;IDH3G,upstream_gene_variant,,ENST00000444450,;IDH3G,upstream_gene_variant,,ENST00000427365,;IDH3G,upstream_gene_variant,,ENST00000370093,;IDH3G,upstream_gene_variant,,ENST00000217901,;IDH3G,upstream_gene_variant,,ENST00000370092,;IDH3G,upstream_gene_variant,,ENST00000444338,;SSR4,non_coding_transcript_exon_variant,,ENST00000471724,;SSR4,non_coding_transcript_exon_variant,,ENST00000491833,;SSR4,non_coding_transcript_exon_variant,,ENST00000482902,;SSR4,non_coding_transcript_exon_variant,,ENST00000460616,;IDH3G,upstream_gene_variant,,ENST00000497043,;SSR4,upstream_gene_variant,,ENST00000485612,;SSR4,upstream_gene_variant,,ENST00000471880,;SSR4,upstream_gene_variant,,ENST00000486204,;IDH3G,upstream_gene_variant,,ENST00000491235,;IDH3G,upstream_gene_variant,,ENST00000495356,;IDH3G,upstream_gene_variant,,ENST00000461215,;SSR4,upstream_gene_variant,,ENST00000447375,;	1074	100	107	SUCCESS
DMD	1756	.	GRCh37	X	32486815	32486815	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	108	119	0	ENST00000357033.4:c.2962T>C	p.Ser988Pro	p.S988P	ENST00000357033	NM_004007.2	988	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS14233.1	2962	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGAACTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	23/79	.	.	.	.	.	.	.	.	.	23/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,missense_variant,p.Ser988Pro,ENST00000357033,;DMD,missense_variant,p.Ser984Pro,ENST00000378677,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	3169	119	132	SUCCESS
SORCS3	22986	.	GRCh37	10	106849559	106849559	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs550554404	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	106	0	ENST00000369701.3:c.1055C>T	p.Ala352Val	p.A352V	ENST00000369701	NM_014978.1	352	gCg/gTg	0	.	T:0.0008	.	T:0.0014	.	T	A/V	protein_coding	YES	CCDS7558.1	1055	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGGACC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,SMART_domains:SM00602	T:0	.	ENSP00000358715	T:0	6/27	.	.	.	.	.	.	.	.	rs550554404	6/27	PASS	ENST00000369701	Transcript	.	T:0.0004	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	T:0	tolerated(0.06)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Ala352Val,ENST00000369701,;	1282	106	103	SUCCESS
RBP3	5949	.	GRCh37	10	48389261	48389261	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	36	0	ENST00000224600.4:c.1617G>A	p.Leu539=	p.L539=	ENST00000224600	NM_002900.2	539	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7218.1	1617	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGCAGATA	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,synonymous_variant,p.%3D,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	1731	36	30	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397093	79397093	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	105	0	ENST00000286628.8:c.308T>A	p.Phe103Tyr	p.F103Y	ENST00000286628	NM_001161352.1	103	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS53545.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGAAGAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10027:SF18,hmmpanther:PTHR10027	.	.	ENSP00000385806	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	deleterious(0)	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,missense_variant,p.Phe103Tyr,ENST00000404857,;KCNMA1,missense_variant,p.Phe38Tyr,ENST00000372437,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000480683,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000406533,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000354353,;KCNMA1,missense_variant,p.Phe77Tyr,ENST00000457953,;KCNMA1,missense_variant,p.Phe40Tyr,ENST00000372408,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000481070,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000372443,;KCNMA1,missense_variant,p.Phe54Tyr,ENST00000372403,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000286627,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000404771,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000372440,;KCNMA1,missense_variant,p.Phe77Tyr,ENST00000372421,;KCNMA1,missense_variant,p.Phe103Tyr,ENST00000286628,;	308	105	55	SUCCESS
MRPL23-AS1	100133545	.	GRCh37	11	2005719	2005719	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs757789391	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	55	0	ENST00000419080.1:n.624C>T		p.*208*	ENST00000419080				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|MUSE	.	TTTCCGCTGTG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	rs757789391	4/4	PASS	ENST00000419080	Transcript	.	.	ENSG00000226416	42812	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MRPL23-AS1	HGNC	.	.	.	SNV	MRPL23,synonymous_variant,p.%3D,ENST00000397297,;MRPL23-AS1,non_coding_transcript_exon_variant,,ENST00000419080,;	624	55	33	SUCCESS
CELF1	10658	.	GRCh37	11	47510522	47510522	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	29	131	0	ENST00000358597.3:c.45T>A	p.Ala15=	p.A15=	ENST00000358597		15	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS53623.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATAGCATC	NONE	.	.	hmmpanther:PTHR24622:SF179,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000435926	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000532048	Transcript	.	.	ENSG00000149187	2549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELF1_HUMAN	CELF1	HGNC	F5H4Y5_HUMAN,F5H3J7_HUMAN,F5H0D8_HUMAN,E9PSH0_HUMAN,E9PQK4_HUMAN,E9PKU1_HUMAN,E9PKA1_HUMAN	.	UPI0000D9D8B2	SNV	CELF1,synonymous_variant,p.%3D,ENST00000395290,;CELF1,synonymous_variant,p.%3D,ENST00000526419,;CELF1,synonymous_variant,p.%3D,ENST00000525841,;CELF1,synonymous_variant,p.%3D,ENST00000310513,;CELF1,synonymous_variant,p.%3D,ENST00000543178,;CELF1,synonymous_variant,p.%3D,ENST00000530151,;CELF1,synonymous_variant,p.%3D,ENST00000532048,;CELF1,synonymous_variant,p.%3D,ENST00000528434,;CELF1,synonymous_variant,p.%3D,ENST00000361904,;CELF1,synonymous_variant,p.%3D,ENST00000531165,;CELF1,synonymous_variant,p.%3D,ENST00000535982,;CELF1,synonymous_variant,p.%3D,ENST00000395292,;CELF1,synonymous_variant,p.%3D,ENST00000358597,;CELF1,downstream_gene_variant,,ENST00000528538,;CELF1,downstream_gene_variant,,ENST00000526277,;AC090559.1,upstream_gene_variant,,ENST00000578625,;CELF1,upstream_gene_variant,,ENST00000422993,;	1020	131	133	SUCCESS
OR51G2	81282	.	GRCh37	11	4936112	4936112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	21	111	0	ENST00000322013.3:c.782T>C	p.Ile261Thr	p.I261T	ENST00000322013	NM_001005238.1	261	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31365.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAATCATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF133,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000322593	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322013	Transcript	.	.	ENSG00000176893	15198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O51G2_HUMAN	OR51G2	HGNC	.	.	UPI0000041C2F	SNV	OR51G2,missense_variant,p.Ile261Thr,ENST00000322013,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	811	111	103	SUCCESS
PHRF1	57661	.	GRCh37	11	610529	610529	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201225978	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	22	0	ENST00000264555.5:c.4445C>T	p.Pro1482Leu	p.P1482L	ENST00000264555	NM_020901.2	1482	cCg/cTg	0	T:0.0005	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS44507.1	4442	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TGCCCCGGCCC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	T:0	T:0.0004	ENSP00000410626	T:0	16/18	.	.	.	.	.	.	.	.	rs201225978	16/18	PASS	ENST00000416188	Transcript	.	T:0.0002	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	T:0.001	tolerated(0.5)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Pro1482Leu,ENST00000264555,;PHRF1,missense_variant,p.Pro1480Leu,ENST00000413872,;PHRF1,missense_variant,p.Pro1478Leu,ENST00000533464,;PHRF1,missense_variant,p.Pro1481Leu,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,intron_variant,,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000525750,;IRF7,downstream_gene_variant,,ENST00000533190,;	4535	22	14	SUCCESS
NEU3	10825	.	GRCh37	11	74716816	74716816	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	42	0	ENST00000294064.4:c.665G>A	p.Cys222Tyr	p.C222Y	ENST00000294064	NM_006656.5	222	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS44682.1	665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGCTTCC	NONE	.	.	hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF7,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	.	.	ENSP00000294064	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000294064	Transcript	.	.	ENSG00000162139	7760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.73)	.	deleterious(0)	.	.	NEU3	HGNC	B4E0V4_HUMAN,A8K327_HUMAN	.	UPI000015F481	SNV	NEU3,missense_variant,p.Cys189Tyr,ENST00000544263,;NEU3,missense_variant,p.Cys113Tyr,ENST00000545272,;NEU3,missense_variant,p.Cys222Tyr,ENST00000294064,;NEU3,missense_variant,p.Cys222Tyr,ENST00000531509,;NEU3,3_prime_UTR_variant,,ENST00000532963,;NEU3,intron_variant,,ENST00000529024,;NEU3,downstream_gene_variant,,ENST00000531619,;	1592	42	42	SUCCESS
NEU3	10825	.	GRCh37	11	74717089	74717089	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	35	0	ENST00000294064.4:c.938A>G	p.Gln313Arg	p.Q313R	ENST00000294064	NM_006656.5	313	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS44682.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCAAGGGA	NONE	.	.	hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF7,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	.	.	ENSP00000294064	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000294064	Transcript	.	.	ENSG00000162139	7760	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	.	NEU3	HGNC	B4E0V4_HUMAN,A8K327_HUMAN	.	UPI000015F481	SNV	NEU3,missense_variant,p.Gln280Arg,ENST00000544263,;NEU3,missense_variant,p.Gln204Arg,ENST00000545272,;NEU3,missense_variant,p.Gln313Arg,ENST00000294064,;NEU3,missense_variant,p.Gln313Arg,ENST00000531509,;NEU3,3_prime_UTR_variant,,ENST00000532963,;NEU3,intron_variant,,ENST00000529024,;NEU3,downstream_gene_variant,,ENST00000531619,;	1865	35	24	SUCCESS
MTERFD3	0	.	GRCh37	12	107372216	107372216	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	40	74	0	ENST00000240050.4:c.277G>C	p.Ala93Pro	p.A93P	ENST00000240050	NM_001033050.2	93	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS9111.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCAGTCT	NONE	.	.	hmmpanther:PTHR15437:SF1,hmmpanther:PTHR15437,Pfam_domain:PF02536,Pfam_domain:PF02536	.	.	ENSP00000447651	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000552029	Transcript	.	.	ENSG00000120832	30779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.584)	.	deleterious(0.03)	.	MTER3_HUMAN	MTERFD3	HGNC	F8VXH5_HUMAN,F8VSL4_HUMAN,F8VSD8_HUMAN	.	UPI000006E7A4	SNV	MTERFD3,missense_variant,p.Ala93Pro,ENST00000240050,;MTERFD3,missense_variant,p.Ala93Pro,ENST00000548101,;MTERFD3,missense_variant,p.Ala93Pro,ENST00000392830,;MTERFD3,missense_variant,p.Ala93Pro,ENST00000552029,;MTERFD3,downstream_gene_variant,,ENST00000550496,;C12orf23,downstream_gene_variant,,ENST00000548125,;C12orf23,downstream_gene_variant,,ENST00000280756,;MTERFD3,downstream_gene_variant,,ENST00000550736,;C12orf23,non_coding_transcript_exon_variant,,ENST00000551237,;C12orf23,non_coding_transcript_exon_variant,,ENST00000548806,;	2346	74	75	SUCCESS
KSR2	283455	.	GRCh37	12	118199277	118199277	+	synonymous_variant	Silent	SNP	C	C	T	rs751706259	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	79	0	ENST00000339824.5:c.525G>A	p.Thr175=	p.T175=	ENST00000339824		175	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	.	525	RADIA|MUTECT|MUSE	.	TTCCCCGTCTC	NONE	byFrequency	.	.	.	.	ENSP00000339952	.	4/20	.	.	.	.	.	.	.	.	rs751706259,COSM935656	4/20	PASS	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,synonymous_variant,p.%3D,ENST00000425217,;KSR2,synonymous_variant,p.%3D,ENST00000339824,;	1253	79	68	SUCCESS
TIMELESS	8914	.	GRCh37	12	56822710	56822710	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758317286	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	79	0	ENST00000553532.1:c.1261A>T	p.Met421Leu	p.M421L	ENST00000553532		421	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS8918.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATCTCAT	NONE	.	.	hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	11/29	.	.	.	.	.	.	.	.	rs758317286	11/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.08)	.	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,missense_variant,p.Met421Leu,ENST00000553532,;TIMELESS,missense_variant,p.Met420Leu,ENST00000229201,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,upstream_gene_variant,,ENST00000557589,;	1412	79	84	SUCCESS
MYO1A	4640	.	GRCh37	12	57432386	57432386	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	83	0	ENST00000300119.3:c.1570A>T	p.Asn524Tyr	p.N524Y	ENST00000300119	NM_005379.3	524	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8929.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATTATTCT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF291,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000393392	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000442789	Transcript	.	.	ENSG00000166866	7595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MYO1A_HUMAN	MYO1A	HGNC	Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN	.	UPI000012FAC2	SNV	MYO1A,missense_variant,p.Asn524Tyr,ENST00000300119,;MYO1A,missense_variant,p.Asn362Tyr,ENST00000544473,;MYO1A,missense_variant,p.Asn524Tyr,ENST00000442789,;MYO1A,downstream_gene_variant,,ENST00000492945,;MYO1A,non_coding_transcript_exon_variant,,ENST00000476795,;MYO1A,missense_variant,p.Asn362Tyr,ENST00000554234,;	1858	83	76	SUCCESS
R3HDM2	22864	.	GRCh37	12	57662147	57662147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	35	0	ENST00000347140.3:c.1927C>A	p.Pro643Thr	p.P643T	ENST00000347140		643	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8937.2	1927	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGGAGGC	NONE	.	.	hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672	.	.	ENSP00000317903	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000347140	Transcript	.	.	ENSG00000179912	29167	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	deleterious(0.04)	.	R3HD2_HUMAN	R3HDM2	HGNC	C9J7N6_HUMAN	.	UPI00005A60D3	SNV	R3HDM2,missense_variant,p.Pro370Thr,ENST00000413953,;R3HDM2,missense_variant,p.Pro657Thr,ENST00000402412,;R3HDM2,missense_variant,p.Pro408Thr,ENST00000429355,;R3HDM2,missense_variant,p.Pro677Thr,ENST00000403821,;R3HDM2,missense_variant,p.Pro643Thr,ENST00000347140,;R3HDM2,missense_variant,p.Pro643Thr,ENST00000358907,;R3HDM2,missense_variant,p.Pro32Thr,ENST00000548161,;R3HDM2,missense_variant,p.Pro338Thr,ENST00000441731,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000546843,;R3HDM2,intron_variant,,ENST00000466401,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;	2318	35	52	SUCCESS
FREM2	341640	.	GRCh37	13	39264296	39264296	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	62	0	ENST00000280481.7:c.2815G>T	p.Glu939Ter	p.E939*	ENST00000280481	NM_207361.4	939	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31960.1	2815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGAAGTG	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,stop_gained,p.Glu939Ter,ENST00000280481,;	3031	63	70	SUCCESS
PCDH9	5101	.	GRCh37	13	67802586	67802586	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	42	66	0	ENST00000377865.2:c.-14A>G		p.*5*	ENST00000377865				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9444.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATTTTCT	NONE	.	.	.	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,5_prime_UTR_variant,,ENST00000377861,;PCDH9,5_prime_UTR_variant,,ENST00000544246,;PCDH9,5_prime_UTR_variant,,ENST00000377865,;PCDH9,5_prime_UTR_variant,,ENST00000456367,;PCDH9,upstream_gene_variant,,ENST00000328454,;	679	67	99	SUCCESS
MGAT2	4247	.	GRCh37	14	50089030	50089030	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	20	89	0	ENST00000305386.2:c.1044G>A	p.Trp348Ter	p.W348*	ENST00000305386	NM_002408.3	348	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS9690.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGACTCT	NONE	.	.	hmmpanther:PTHR12871,hmmpanther:PTHR12871:SF0,Gene3D:3.90.550.10,Pfam_domain:PF05060,Superfamily_domains:SSF53448	.	.	ENSP00000307423	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305386	Transcript	.	.	ENSG00000168282	7045	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAT2_HUMAN	MGAT2	HGNC	B4DDK9_HUMAN	.	UPI000012B8CA	SNV	MGAT2,stop_gained,p.Trp348Ter,ENST00000305386,;DNAAF2,downstream_gene_variant,,ENST00000298292,;DNAAF2,downstream_gene_variant,,ENST00000406043,;RPL36AL,upstream_gene_variant,,ENST00000298289,;RP11-649E7.5,non_coding_transcript_exon_variant,,ENST00000555043,;	1542	89	86	SUCCESS
HDDC3	374659	.	GRCh37	15	91475134	91475134	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs921011364	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	34	0	ENST00000394272.3:c.209C>T	p.Thr70Ile	p.T70I	ENST00000394272	NM_001286451.1	70	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10366.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGTGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21262,Pfam_domain:PF13328,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000330721	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000330334	Transcript	.	.	ENSG00000184508	30522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.869)	.	deleterious(0)	.	MESH1_HUMAN	HDDC3	HGNC	.	.	UPI000006E272	SNV	HDDC3,missense_variant,p.Thr70Ile,ENST00000330334,;HDDC3,missense_variant,p.Thr70Ile,ENST00000559898,;HDDC3,missense_variant,p.Thr63Ile,ENST00000561036,;HDDC3,missense_variant,p.Thr70Ile,ENST00000394272,;UNC45A,intron_variant,,ENST00000394275,;UNC45A,upstream_gene_variant,,ENST00000418476,;AC068831.3,downstream_gene_variant,,ENST00000438890,;AC068831.3,downstream_gene_variant,,ENST00000448987,;UNC45A,intron_variant,,ENST00000480470,;UNC45A,intron_variant,,ENST00000461266,;UNC45A,upstream_gene_variant,,ENST00000556482,;UNC45A,downstream_gene_variant,,ENST00000556319,;UNC45A,upstream_gene_variant,,ENST00000553671,;HDDC3,non_coding_transcript_exon_variant,,ENST00000494993,;HDDC3,non_coding_transcript_exon_variant,,ENST00000559834,;UNC45A,upstream_gene_variant,,ENST00000557212,;UNC45A,upstream_gene_variant,,ENST00000495068,;UNC45A,upstream_gene_variant,,ENST00000497152,;UNC45A,upstream_gene_variant,,ENST00000486253,;	215	34	21	SUCCESS
CIITA	4261	.	GRCh37	16	10989531	10989531	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	83	0	ENST00000324288.8:c.205G>A	p.Asp69Asn	p.D69N	ENST00000324288	NM_000246.3	69	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS10544.1	205	MUTECT|MUSE	.	AACCCGACACA	NONE	.	.	.	.	.	ENSP00000316328	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000324288	Transcript	.	.	ENSG00000179583	7067	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.722)	.	deleterious(0.01)	.	C2TA_HUMAN	CIITA	HGNC	I3L2E5_HUMAN	.	UPI0000456914	SNV	CIITA,missense_variant,p.Asp69Asn,ENST00000381835,;CIITA,missense_variant,p.Asp69Asn,ENST00000324288,;CIITA,missense_variant,p.Asp45Asn,ENST00000576601,;CIITA,non_coding_transcript_exon_variant,,ENST00000537380,;CIITA,missense_variant,p.Asp69Asn,ENST00000571186,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;	338	83	56	SUCCESS
DECR2	26063	.	GRCh37	16	461547	461547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150303478	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	88	0	ENST00000219481.5:c.848C>T	p.Pro283Leu	p.P283L	ENST00000219481	NM_020664.3	283	cCg/cTg	0	T:0.0025	T:0.0015	.	T:0	.	T	P/L	protein_coding	YES	CCDS10409.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGGATT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000219481	T:0	8/9	.	.	.	.	.	.	.	.	rs150303478	8/9	PASS	ENST00000219481	Transcript	.	T:0.0004	ENSG00000242612	2754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0	tolerated(0.5)	.	DECR2_HUMAN	DECR2	HGNC	Q9H3W9_HUMAN	.	UPI000003BBDC	SNV	DECR2,missense_variant,p.Pro271Leu,ENST00000424398,;DECR2,missense_variant,p.Pro283Leu,ENST00000219481,;DECR2,downstream_gene_variant,,ENST00000397710,;DECR2,intron_variant,,ENST00000461947,;DECR2,downstream_gene_variant,,ENST00000461802,;DECR2,3_prime_UTR_variant,,ENST00000429116,;DECR2,3_prime_UTR_variant,,ENST00000437024,;DECR2,3_prime_UTR_variant,,ENST00000439661,;DECR2,non_coding_transcript_exon_variant,,ENST00000461749,;DECR2,downstream_gene_variant,,ENST00000469922,;DECR2,downstream_gene_variant,,ENST00000465166,;NME4,downstream_gene_variant,,ENST00000444498,;DECR2,downstream_gene_variant,,ENST00000445291,;	986	88	50	SUCCESS
IRX6	79190	.	GRCh37	16	55362664	55362664	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs143272826	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	43	0	ENST00000290552.7:c.774C>G	p.Asp258Glu	p.D258E	ENST00000290552	NM_024335.2	258	gaC/gaG	0	A:0.0002	.	.	.	.	G	D/E	protein_coding	YES	CCDS32449.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGACCTGGA	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11211:SF11,hmmpanther:PTHR11211	.	A:0	ENSP00000290552	.	5/6	.	.	.	.	.	.	.	.	rs143272826	5/6	PASS	ENST00000290552	Transcript	.	.	ENSG00000159387	14675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	tolerated(0.14)	.	IRX6_HUMAN	IRX6	HGNC	Q9BZI2_HUMAN	.	UPI00001C0A88	SNV	IRX6,missense_variant,p.Asp258Glu,ENST00000290552,;RP11-26L20.4,upstream_gene_variant,,ENST00000573934,;RP11-26L20.3,intron_variant,,ENST00000558730,;IRX6,downstream_gene_variant,,ENST00000558315,;	2106	43	28	SUCCESS
CTU2	348180	.	GRCh37	16	88776364	88776364	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770694267	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	60	0	ENST00000453996.2:c.162C>G	p.Phe54Leu	p.F54L	ENST00000453996	NM_001012759.1	54	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS45545.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCTACGT	NONE	byFrequency	.	HAMAP:MF_03054,hmmpanther:PTHR20882	.	.	ENSP00000388320	.	3/15	.	.	.	.	.	.	.	.	rs770694267	3/15	PASS	ENST00000453996	Transcript	.	.	ENSG00000174177	28005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.06)	.	CTU2_HUMAN	CTU2	HGNC	H3BNU5_HUMAN,B4DS10_HUMAN	.	UPI0000251EAE	SNV	CTU2,missense_variant,p.Phe54Leu,ENST00000312060,;CTU2,missense_variant,p.Phe54Leu,ENST00000453996,;CTU2,missense_variant,p.Phe54Leu,ENST00000567949,;CTU2,5_prime_UTR_variant,,ENST00000564921,;CTU2,intron_variant,,ENST00000378384,;CTU2,upstream_gene_variant,,ENST00000567316,;RNF166,upstream_gene_variant,,ENST00000562544,;RNF166,upstream_gene_variant,,ENST00000567844,;RNF166,upstream_gene_variant,,ENST00000312838,;CTU2,non_coding_transcript_exon_variant,,ENST00000565071,;CTU2,intron_variant,,ENST00000564105,;CTU2,upstream_gene_variant,,ENST00000564584,;CTU2,upstream_gene_variant,,ENST00000566637,;	230	60	36	SUCCESS
SREBF1	6720	.	GRCh37	17	17723609	17723613	+	frameshift_variant	Frame_Shift_Del	DEL	TGGAG	TGGAG	-	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	TGGAG	TGGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	37	0	ENST00000261646.5:c.314_318del	p.Thr105IlefsTer226	p.T105Ifs*226	ENST00000261646	NM_004176.4	105	aCTCCA/a	0	.	.	.	.	.	-	TP/X	protein_coding	YES	CCDS32583.1	404-408	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCAATGGAGTGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	deletion	SREBF1,frameshift_variant,p.Thr81IlefsTer224,ENST00000423161,;SREBF1,frameshift_variant,p.Thr105IlefsTer226,ENST00000338854,;SREBF1,frameshift_variant,p.Thr135IlefsTer226,ENST00000355815,;SREBF1,frameshift_variant,p.Thr105IlefsTer226,ENST00000261646,;SREBF1,frameshift_variant,p.Thr105IlefsTer226,ENST00000435530,;SREBF1,intron_variant,,ENST00000577897,;SREBF1,upstream_gene_variant,,ENST00000395757,;SREBF1,intron_variant,,ENST00000583732,;SREBF1,5_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,upstream_gene_variant,,ENST00000583080,;SREBF1,upstream_gene_variant,,ENST00000487401,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,upstream_gene_variant,,ENST00000395756,;SREBF1,upstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000580540,;SREBF1,upstream_gene_variant,,ENST00000470247,;	574-578	37	47	SUCCESS
RTN4RL1	146760	.	GRCh37	17	1840387	1840387	+	synonymous_variant	Silent	SNP	C	C	T	rs1388490270	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	29	0	ENST00000331238.6:c.729G>A	p.Pro243=	p.P243=	ENST00000331238	NM_178568.2	243	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45569.1	729	MUTECT|MUSE	.	CCCAGCGGGGC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF11,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000330631	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331238	Transcript	.	.	ENSG00000185924	21329	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	R4RL1_HUMAN	RTN4RL1	HGNC	.	.	UPI000018CD23	SNV	RTN4RL1,synonymous_variant,p.%3D,ENST00000331238,;	1209	29	22	SUCCESS
CPD	1362	.	GRCh37	17	28772780	28772780	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs766518499	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	51	223	0	ENST00000225719.4:c.2615G>T	p.Arg872Leu	p.R872L	ENST00000225719	NM_001304.4	872	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS11257.1	2615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCGATCCT	NONE	.	.	hmmpanther:PTHR11532:SF40,hmmpanther:PTHR11532,Gene3D:2.60.40.1120,SMART_domains:SM00631	.	.	ENSP00000225719	.	12/21	.	.	.	.	.	.	.	.	rs766518499	12/21	PASS	ENST00000225719	Transcript	.	.	ENSG00000108582	2301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	deleterious(0.01)	.	CBPD_HUMAN	CPD	HGNC	.	.	UPI000000DAF7	SNV	CPD,missense_variant,p.Arg81Leu,ENST00000584221,;CPD,missense_variant,p.Arg625Leu,ENST00000543464,;CPD,missense_variant,p.Arg872Leu,ENST00000225719,;CPD,non_coding_transcript_exon_variant,,ENST00000588977,;CPD,upstream_gene_variant,,ENST00000584051,;CPD,downstream_gene_variant,,ENST00000581826,;CPD,upstream_gene_variant,,ENST00000584050,;	2691	224	191	SUCCESS
BZRAP1	0	.	GRCh37	17	56400053	56400053	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	50	0	ENST00000343736.4:c.1279C>T	p.Leu427=	p.L427=	ENST00000343736		427	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11605.1	1279	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGGCCCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234	.	.	ENSP00000345824	.	9/32	.	.	.	.	.	.	.	.	.	9/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,synonymous_variant,p.%3D,ENST00000355701,;BZRAP1,synonymous_variant,p.%3D,ENST00000343736,;BZRAP1,synonymous_variant,p.%3D,ENST00000268893,;BZRAP1-AS1,upstream_gene_variant,,ENST00000579527,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000583624,;	1443	50	46	SUCCESS
WSCD1	23302	.	GRCh37	17	6023676	6023676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs191802540	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	34	68	0	ENST00000317744.5:c.1423G>A	p.Val475Ile	p.V475I	ENST00000317744	NM_015253.1	475	Gtc/Atc	0	.	A:0	.	A:0.0014	.	A	V/I	protein_coding	YES	CCDS32538.1	1423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACGTCCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	A:0	.	ENSP00000460825	A:0	9/9	.	.	.	.	.	.	.	.	rs191802540,COSM982399	9/9	PASS	ENST00000574946	Transcript	.	A:0.0002	ENSG00000179314	29060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.887)	A:0	deleterious(0.04)	0,1	WSCD1_HUMAN	WSCD1	HGNC	I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN	.	UPI0000197208	SNV	WSCD1,missense_variant,p.Val359Ile,ENST00000573634,;WSCD1,missense_variant,p.Val475Ile,ENST00000574232,;WSCD1,missense_variant,p.Val475Ile,ENST00000317744,;WSCD1,missense_variant,p.Val475Ile,ENST00000539421,;WSCD1,missense_variant,p.Val475Ile,ENST00000574946,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	1813	68	66	SUCCESS
EFCAB3	146779	.	GRCh37	17	60464748	60464748	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	40	54	0	ENST00000305286.3:c.125del	p.Lys42ArgfsTer3	p.K42Rfs*3	ENST00000305286	NM_173503.3	41	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS45751.1	278	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAAAGAAAAGA	NONE	.	.	hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF158,Gene3D:1.10.238.10	.	.	ENSP00000403932	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000450662	Transcript	.	.	ENSG00000172421	26379	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFCB3_HUMAN	EFCAB3	HGNC	E5RJB7_HUMAN,E5RHB1_HUMAN	.	UPI0001929531	deletion	EFCAB3,frameshift_variant,p.Lys94ArgfsTer3,ENST00000450662,;EFCAB3,frameshift_variant,p.Lys42ArgfsTer3,ENST00000518576,;EFCAB3,frameshift_variant,p.Lys42ArgfsTer3,ENST00000520404,;EFCAB3,frameshift_variant,p.Lys42ArgfsTer3,ENST00000305286,;RNU7-52P,downstream_gene_variant,,ENST00000516172,;	349	54	121	SUCCESS
SETBP1	26040	.	GRCh37	18	42643643	42643643	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs759235645	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	50	251	0	ENST00000282030.5:c.4771G>C	p.Glu1591Gln	p.E1591Q	ENST00000282030	NM_015559.2	1591	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS11923.2	4771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGAGAGC	NONE	.	.	.	.	.	ENSP00000282030	.	6/6	.	.	.	.	.	.	.	.	rs759235645	6/6	PASS	ENST00000282030	Transcript	.	.	ENSG00000152217	15573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0.01)	.	SETBP_HUMAN	SETBP1	HGNC	K7ES17_HUMAN	.	UPI0000201C54	SNV	SETBP1,missense_variant,p.Glu1591Gln,ENST00000282030,;	5067	251	186	SUCCESS
TNFRSF11A	8792	.	GRCh37	18	60036567	60036567	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777022699	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	35	0	ENST00000586569.1:c.1417G>A	p.Ala473Thr	p.A473T	ENST00000586569	NM_001278268.1	473	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS11980.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCGCCTAT	NONE	.	.	hmmpanther:PTHR23097:SF29,hmmpanther:PTHR23097	.	.	ENSP00000465500	.	9/10	.	.	.	.	.	.	.	.	rs777022699,COSM1637769	9/10	PASS	ENST00000586569	Transcript	.	.	ENSG00000141655	11908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.103)	.	tolerated(0.72)	0,1	TNR11_HUMAN	TNFRSF11A	HGNC	N0GVH0_HUMAN	.	UPI000003BC8A	SNV	TNFRSF11A,missense_variant,p.Ala473Thr,ENST00000586569,;TNFRSF11A,intron_variant,,ENST00000269485,;RP11-640A1.3,downstream_gene_variant,,ENST00000589084,;	1455	35	23	SUCCESS
ADNP2	22850	.	GRCh37	18	77896211	77896211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	47	0	ENST00000262198.4:c.2915C>A	p.Ser972Tyr	p.S972Y	ENST00000262198	NM_014913.3	972	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS32853.1	2915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTCCAGTT	NONE	.	.	hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740	.	.	ENSP00000262198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262198	Transcript	.	.	ENSG00000101544	23803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated(0.59)	.	ADNP2_HUMAN	ADNP2	HGNC	H0YLN6_HUMAN	.	UPI0000071DEA	SNV	ADNP2,missense_variant,p.Ser972Tyr,ENST00000262198,;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;ADNP2,downstream_gene_variant,,ENST00000560752,;	3370	47	51	SUCCESS
ANKRD12	23253	.	GRCh37	18	9208758	9208758	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	44	165	0	ENST00000262126.4:c.408G>C	p.Gln136His	p.Q136H	ENST00000262126	NM_015208.4	136	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS11843.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAGATGGC	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Gln113His,ENST00000546007,;ANKRD12,missense_variant,p.Gln136His,ENST00000262126,;ANKRD12,missense_variant,p.Gln113His,ENST00000383440,;ANKRD12,missense_variant,p.Gln113His,ENST00000400020,;ANKRD12,non_coding_transcript_exon_variant,,ENST00000581758,;ANKRD12,non_coding_transcript_exon_variant,,ENST00000540578,;RP11-21J18.1,intron_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000581635,;	648	165	159	SUCCESS
COL5A3	50509	.	GRCh37	19	10080566	10080566	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	100	0	ENST00000264828.3:c.3969A>T	p.Arg1323Ser	p.R1323S	ENST00000264828	NM_015719.3	1323	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12222.1	3969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	.	.	ENSP00000264828	.	55/67	.	.	.	.	.	.	.	.	.	55/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,missense_variant,p.Arg1323Ser,ENST00000264828,;COL5A3,upstream_gene_variant,,ENST00000461214,;	4055	100	84	SUCCESS
P2RY11	5032	.	GRCh37	19	10225190	10225190	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368706939	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	37	0	ENST00000321826.4:c.901G>A	p.Val301Met	p.V301M	ENST00000321826	NM_002566.4	301	Gtg/Atg	0	A:0.0002	.	.	.	.	A	V/M	protein_coding	YES	CCDS42498.1	2161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACGTGGGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50262,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	A:0	ENSP00000377385	.	13/13	.	.	.	.	.	.	.	.	rs368706939	13/13	PASS	ENST00000393796	Transcript	.	.	ENSG00000243207	33526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.22)	.	.	PPAN-P2RY11	HGNC	.	.	UPI000016A418	SNV	PPAN-P2RY11,missense_variant,p.Val721Met,ENST00000393796,;PPAN,missense_variant,p.Val721Met,ENST00000556468,;P2RY11,missense_variant,p.Val301Met,ENST00000321826,;PPAN-P2RY11,3_prime_UTR_variant,,ENST00000428358,;EIF3G,downstream_gene_variant,,ENST00000253108,;EIF3G,downstream_gene_variant,,ENST00000588709,;PPAN,downstream_gene_variant,,ENST00000444703,;EIF3G,downstream_gene_variant,,ENST00000589454,;PPAN,downstream_gene_variant,,ENST00000393793,;PPAN,downstream_gene_variant,,ENST00000253107,;EIF3G,downstream_gene_variant,,ENST00000587146,;PPAN,downstream_gene_variant,,ENST00000446223,;EIF3G,downstream_gene_variant,,ENST00000593054,;SNORD105B,downstream_gene_variant,,ENST00000458770,;P2RY11,downstream_gene_variant,,ENST00000471843,;EIF3G,downstream_gene_variant,,ENST00000587168,;EIF3G,downstream_gene_variant,,ENST00000590647,;EIF3G,downstream_gene_variant,,ENST00000590940,;EIF3G,downstream_gene_variant,,ENST00000589009,;PPAN,downstream_gene_variant,,ENST00000486482,;EIF3G,downstream_gene_variant,,ENST00000587993,;EIF3G,downstream_gene_variant,,ENST00000593066,;EIF3G,downstream_gene_variant,,ENST00000593095,;EIF3G,downstream_gene_variant,,ENST00000586151,;EIF3G,downstream_gene_variant,,ENST00000587590,;PPAN,downstream_gene_variant,,ENST00000468881,;EIF3G,downstream_gene_variant,,ENST00000590158,;EIF3G,downstream_gene_variant,,ENST00000589458,;EIF3G,downstream_gene_variant,,ENST00000587681,;PPAN,downstream_gene_variant,,ENST00000466025,;EIF3G,downstream_gene_variant,,ENST00000589674,;EIF3G,downstream_gene_variant,,ENST00000592485,;	2161	37	39	SUCCESS
ZNF844	284391	.	GRCh37	19	12187711	12187711	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs769734885	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	29	92	0	ENST00000439326.3:c.1778del	p.Lys593SerfsTer22	p.K593Sfs*22	ENST00000439326	NM_001136501.1	592	acA/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS45985.1	1776	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGACAAAGCA	NONE	.	.	.	.	.	ENSP00000392024	.	4/4	.	.	.	.	.	.	.	.	rs769734885	4/4	PASS	ENST00000439326	Transcript	.	.	ENSG00000223547	25932	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN844_HUMAN	ZNF844	HGNC	F8VS19_HUMAN	.	UPI0000185F5D	deletion	ZNF844,frameshift_variant,p.Lys593SerfsTer22,ENST00000439326,;ZNF844,3_prime_UTR_variant,,ENST00000441304,;ZNF844,downstream_gene_variant,,ENST00000550826,;	1951	92	121	SUCCESS
ZNF567	163081	.	GRCh37	19	37203683	37203683	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	48	97	0	ENST00000536254.2:c.137G>A	p.Gly46Glu	p.G46E	ENST00000536254		46	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12495.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGGTGTC	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,PROSITE_profiles:PS50805	.	.	ENSP00000467379	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000585696	Transcript	.	.	ENSG00000189042	28696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0)	.	ZN567_HUMAN	ZNF567	HGNC	.	.	UPI00001BBFD4	SNV	ZNF567,missense_variant,p.Gly15Glu,ENST00000392163,;ZNF567,missense_variant,p.Gly25Glu,ENST00000589264,;ZNF567,missense_variant,p.Gly15Glu,ENST00000360729,;ZNF567,missense_variant,p.Gly46Glu,ENST00000536254,;ZNF567,missense_variant,p.Gly15Glu,ENST00000585696,;ZNF567,missense_variant,p.Gly15Glu,ENST00000588311,;ZNF850,downstream_gene_variant,,ENST00000589390,;ZNF567,missense_variant,p.Gly11Glu,ENST00000591308,;ZNF567,downstream_gene_variant,,ENST00000590392,;	1274	97	85	SUCCESS
ERF	2077	.	GRCh37	19	42754547	42754547	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1479656985	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	39	81	0	ENST00000222329.4:c.193C>T	p.Arg65Trp	p.R65W	ENST00000222329	NM_006494.2	65	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12600.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGGGCCA	NONE	.	.	PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF31,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454	.	.	ENSP00000222329	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000222329	Transcript	1	.	ENSG00000105722	3444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ERF_HUMAN	ERF	HGNC	M0QXN0_HUMAN,B7Z6N1_HUMAN,B7Z4R0_HUMAN	.	UPI000000106F	SNV	ERF,missense_variant,p.Arg65Trp,ENST00000222329,;ERF,5_prime_UTR_variant,,ENST00000598965,;ERF,5_prime_UTR_variant,,ENST00000593944,;ERF,5_prime_UTR_variant,,ENST00000440177,;AC006486.9,intron_variant,,ENST00000594664,;ERF,downstream_gene_variant,,ENST00000595941,;ERF,non_coding_transcript_exon_variant,,ENST00000596818,;ERF,upstream_gene_variant,,ENST00000595448,;	351	81	75	SUCCESS
PSG10P	653492	.	GRCh37	19	43349191	43349191	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	25	0	ENST00000501199.4:n.1220A>C		p.*407*	ENST00000501199				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGTTACTG	NONE	.	.	.	.	.	.	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000501199	Transcript	.	.	ENSG00000248257	9515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PSG10P	HGNC	.	.	.	SNV	PSG8,intron_variant,,ENST00000401467,;PSG10P,non_coding_transcript_exon_variant,,ENST00000597171,;PSG10P,non_coding_transcript_exon_variant,,ENST00000501199,;	1220	25	20	SUCCESS
ZFP28	140612	.	GRCh37	19	57058902	57058902	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1358355574	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	29	147	0	ENST00000301318.3:c.326C>T	p.Ala109Val	p.A109V	ENST00000301318	NM_020828.1	109	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12946.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCTGTAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000301318	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000301318	Transcript	.	.	ENSG00000196867	17801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.08)	.	ZFP28_HUMAN	ZFP28	HGNC	Q68CX9_HUMAN	.	UPI000006D90E	SNV	ZFP28,missense_variant,p.Ala109Val,ENST00000591844,;ZFP28,missense_variant,p.Ala109Val,ENST00000301318,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000594386,;ZFP28,missense_variant,p.Ala72Val,ENST00000589836,;ZFP28,upstream_gene_variant,,ENST00000588163,;	397	147	161	SUCCESS
ZNF470	388566	.	GRCh37	19	57086027	57086027	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	43	86	0	ENST00000330619.8:c.208G>T	p.Asp70Tyr	p.D70Y	ENST00000330619	NM_001001668.3	70	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS33122.1	208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAGATGTG	BUFFER|p.S73F|c.218C>T|4	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24377,PROSITE_profiles:PS50805	.	.	ENSP00000333223	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000330619	Transcript	.	.	ENSG00000197016	22220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	tolerated(0.14)	.	ZN470_HUMAN	ZNF470	HGNC	.	.	UPI0000D61826	SNV	ZNF470,missense_variant,p.Asp70Tyr,ENST00000391709,;ZNF470,missense_variant,p.Asp5Tyr,ENST00000594953,;ZNF470,missense_variant,p.Asp70Tyr,ENST00000601902,;ZNF470,missense_variant,p.Asp70Tyr,ENST00000330619,;ZNF470,non_coding_transcript_exon_variant,,ENST00000601059,;	894	86	80	SUCCESS
HIPK1	204851	.	GRCh37	1	114483116	114483116	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	110	0	ENST00000369558.1:c.111T>A	p.Ser37Arg	p.S37R	ENST00000369558		37	agT/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS867.1	111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTAGCAA	NONE	.	.	hmmpanther:PTHR24058:SF43,hmmpanther:PTHR24058	.	.	ENSP00000358571	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000369558	Transcript	.	.	ENSG00000163349	19006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	tolerated(0.66)	.	HIPK1_HUMAN	HIPK1	HGNC	D6RF28_HUMAN,D6RC95_HUMAN	.	UPI000000D74E	SNV	HIPK1,missense_variant,p.Ser37Arg,ENST00000503968,;HIPK1,missense_variant,p.Ser37Arg,ENST00000369559,;HIPK1,missense_variant,p.Ser37Arg,ENST00000514621,;HIPK1,missense_variant,p.Ser37Arg,ENST00000369561,;HIPK1,missense_variant,p.Ser37Arg,ENST00000369558,;HIPK1,missense_variant,p.Ser37Arg,ENST00000369554,;HIPK1,missense_variant,p.Ser37Arg,ENST00000369555,;HIPK1,missense_variant,p.Ser37Arg,ENST00000426820,;	343	110	63	SUCCESS
PTCHD2	0	.	GRCh37	1	11561875	11561875	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	62	0	ENST00000294484.6:c.826G>T	p.Glu276Ter	p.E276*	ENST00000294484	NM_020780.1	276	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41247.1	826	MUTECT|MUSE	.	GCATCGAGCTC	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,stop_gained,p.Glu276Ter,ENST00000389575,;PTCHD2,stop_gained,p.Glu276Ter,ENST00000294484,;	964	62	52	SUCCESS
PRDM2	7799	.	GRCh37	1	14105088	14105088	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	7	168	0	ENST00000235372.7:c.798G>T	p.Leu266Phe	p.L266F	ENST00000235372	NM_012231.4	266	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS150.1	798	MUTECT|MUSE	.	GATTTGGGGGA	NONE	.	.	PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000235372	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.132)	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,missense_variant,p.Leu65Phe,ENST00000343137,;PRDM2,missense_variant,p.Leu65Phe,ENST00000413440,;PRDM2,missense_variant,p.Leu266Phe,ENST00000311066,;PRDM2,missense_variant,p.Leu266Phe,ENST00000235372,;PRDM2,missense_variant,p.Leu65Phe,ENST00000407521,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000376048,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,intron_variant,,ENST00000491134,;PRDM2,downstream_gene_variant,,ENST00000491815,;	1654	168	121	SUCCESS
OR10J1	26476	.	GRCh37	1	159410510	159410510	+	stop_retained_variant	Silent	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	25	37	0	ENST00000423932.3:c.962G>A	p.Ter321=	p.*321=	ENST00000423932	NM_012351.2	321	tGa/tAa	0	.	.	.	.	.	A	*	protein_coding	YES	CCDS1185.1	962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGACCAT	BUFFER|p.K318T|c.953A>C|4,BUFFER|p.S320F|c.959C>T|4	.	.	.	.	.	ENSP00000399078	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000423932	Transcript	.	.	ENSG00000196184	8175	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10J1_HUMAN	OR10J1	HGNC	.	.	UPI000013E7DA	SNV	OR10J1,stop_retained_variant,p.%3D,ENST00000423932,;RP11-550P17.5,intron_variant,,ENST00000431862,;	999	37	41	SUCCESS
SPATA21	374955	.	GRCh37	1	16748584	16748584	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	23	0	ENST00000335496.1:c.35-118C>A		p.*12*	ENST00000335496	NM_198546.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS172.1	.	MUTECT|MUSE	.	CTTGGGGTGCT	NONE	.	.	.	.	.	ENSP00000335612	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335496	Transcript	.	.	ENSG00000187144	28026	.	.	MODIFIER	3/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPT21_HUMAN	SPATA21	HGNC	.	.	UPI00001B4B16	SNV	SPATA21,intron_variant,,ENST00000540400,;SPATA21,intron_variant,,ENST00000335496,;SPATA21,downstream_gene_variant,,ENST00000375577,;SPATA21,non_coding_transcript_exon_variant,,ENST00000466212,;	.	23	13	SUCCESS
SRRM1	10250	.	GRCh37	1	24969795	24969795	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs371622513	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	98	0	ENST00000323848.9:c.-23C>T		p.*8*	ENST00000323848	NM_005839.3			0	T:0.0002	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS255.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCGATCT	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000326261	T:0.001	1/17	.	.	.	.	.	.	.	.	rs371622513	1/17	PASS	ENST00000323848	Transcript	.	T:0.0002	ENSG00000133226	16638	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SRRM1_HUMAN	SRRM1	HGNC	M0QXG5_HUMAN	.	UPI000013EBEB	SNV	SRRM1,5_prime_UTR_variant,,ENST00000323848,;SRRM1,5_prime_UTR_variant,,ENST00000447431,;SRRM1,5_prime_UTR_variant,,ENST00000374389,;SRRM1,intron_variant,,ENST00000593639,;SRRM1,upstream_gene_variant,,ENST00000596378,;SRRM1,non_coding_transcript_exon_variant,,ENST00000468822,;SRRM1,non_coding_transcript_exon_variant,,ENST00000466910,;SRRM1,intron_variant,,ENST00000478890,;SRRM1,upstream_gene_variant,,ENST00000479034,;SRRM1,upstream_gene_variant,,ENST00000490543,;SRRM1,5_prime_UTR_variant,,ENST00000600523,;SRRM1,non_coding_transcript_exon_variant,,ENST00000462710,;	293	98	82	SUCCESS
ZNF593	51042	.	GRCh37	1	26496448	26496448	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	10	0	ENST00000374266.5:c.-27C>T		p.*9*	ENST00000374266	NM_015871.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS275.2	.	RADIA|MUTECT|MUSE	.	TGGCCCCTTGG	NONE	.	.	.	.	.	ENSP00000363384	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000374266	Transcript	.	.	ENSG00000142684	30943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN593_HUMAN	ZNF593	HGNC	.	.	UPI0000205511	SNV	ZNF593,5_prime_UTR_variant,,ENST00000270812,;ZNF593,5_prime_UTR_variant,,ENST00000374266,;RP11-96L14.7,non_coding_transcript_exon_variant,,ENST00000407889,;RP11-96L14.7,downstream_gene_variant,,ENST00000433939,;RP11-96L14.7,downstream_gene_variant,,ENST00000444682,;RP11-96L14.7,downstream_gene_variant,,ENST00000448923,;RP11-96L14.7,downstream_gene_variant,,ENST00000414762,;	87	10	12	SUCCESS
MAP7D1	55700	.	GRCh37	1	36638161	36638161	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764389319	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	15	294	0	ENST00000373151.2:c.557G>A	p.Arg186His	p.R186H	ENST00000373151	NM_018067.3	186	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS30673.1	557	MUTECT|MUSE|VARSCANS	.	GCAACGTCTTA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15073:SF2,hmmpanther:PTHR15073	.	.	ENSP00000362244	.	4/17	.	.	.	.	.	.	.	.	rs764389319	4/17	PASS	ENST00000373151	Transcript	.	.	ENSG00000116871	25514	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	.	.	MA7D1_HUMAN	MAP7D1	HGNC	E9PLH3_HUMAN,D3DPS3_HUMAN,C9JIR3_HUMAN	.	UPI00005C3036	SNV	MAP7D1,missense_variant,p.Arg186His,ENST00000373151,;MAP7D1,missense_variant,p.Arg186His,ENST00000373150,;MAP7D1,missense_variant,p.Arg186His,ENST00000316156,;MAP7D1,missense_variant,p.Arg147His,ENST00000429533,;MAP7D1,upstream_gene_variant,,ENST00000373148,;MAP7D1,upstream_gene_variant,,ENST00000530975,;MAP7D1,downstream_gene_variant,,ENST00000530729,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000474796,;MAP7D1,upstream_gene_variant,,ENST00000487131,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000462118,;MAP7D1,downstream_gene_variant,,ENST00000527764,;	773	294	190	SUCCESS
MAVS	57506	.	GRCh37	20	3845079	3845079	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs775731890	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	54	0	ENST00000428216.2:c.802G>T	p.Glu268Ter	p.E268*	ENST00000428216	NM_020746.4	268	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33437.1	802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGAGGGT	NONE	byFrequency	.	hmmpanther:PTHR21446:SF3,hmmpanther:PTHR21446	.	.	ENSP00000401980	.	6/7	.	.	.	.	.	.	.	.	rs775731890	6/7	PASS	ENST00000428216	Transcript	.	.	ENSG00000088888	29233	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAVS_HUMAN	MAVS	HGNC	M1P2Z0_HUMAN	.	UPI000015F983	SNV	MAVS,stop_gained,p.Glu127Ter,ENST00000416600,;MAVS,stop_gained,p.Glu268Ter,ENST00000428216,;MAVS,3_prime_UTR_variant,,ENST00000358134,;	930	54	51	SUCCESS
NCOA5	57727	.	GRCh37	20	44695721	44695721	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	66	120	0	ENST00000290231.6:c.602del	p.Ser201LeufsTer2	p.S201Lfs*2	ENST00000290231	NM_020967.2	201	tCt/tt	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS13392.1	602	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCACAGAACAA	NONE	.	.	hmmpanther:PTHR23295:SF3,hmmpanther:PTHR23295,Gene3D:3.40.50.800,Superfamily_domains:SSF52954	.	.	ENSP00000290231	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000290231	Transcript	.	.	ENSG00000124160	15909	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCOA5_HUMAN	NCOA5	HGNC	Q5JY17_HUMAN	.	UPI000000D7B2	deletion	NCOA5,frameshift_variant,p.Ser96LeufsTer2,ENST00000372291,;NCOA5,frameshift_variant,p.Ser201LeufsTer2,ENST00000290231,;	767	120	217	SUCCESS
SLC2A10	81031	.	GRCh37	20	45354604	45354604	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763521707	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	41	0	ENST00000359271.2:c.929C>G	p.Ser310Cys	p.S310C	ENST00000359271	NM_030777.3	310	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS13402.1	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTCCGTCA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF93,hmmpanther:PTHR24063,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000352216	.	2/5	.	.	.	.	.	.	.	.	rs763521707,COSM3389804,COSM1683115	2/5	PASS	ENST00000359271	Transcript	1	.	ENSG00000197496	13444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.351)	.	tolerated(0.08)	0,1,1	GTR10_HUMAN	SLC2A10	HGNC	Q8TDC7_HUMAN	.	UPI000012BC8D	SNV	SLC2A10,missense_variant,p.Ser310Cys,ENST00000359271,;	1179	41	58	SUCCESS
MORC2	22880	.	GRCh37	22	31331116	31331116	+	synonymous_variant	Silent	SNP	C	C	T	rs765731466	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	69	0	ENST00000397641.3:c.1845G>A	p.Ser615=	p.S615=	ENST00000397641		615	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33636.1	1659	MUTECT|MUSE	.	GGGGGCGACCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337	.	.	ENSP00000215862	.	20/27	.	.	.	.	.	.	.	.	rs765731466	20/27	PASS	ENST00000215862	Transcript	.	.	ENSG00000133422	23573	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MORC2_HUMAN	MORC2	HGNC	.	.	UPI000012DB74	SNV	MORC2,synonymous_variant,p.%3D,ENST00000215862,;MORC2,synonymous_variant,p.%3D,ENST00000397641,;MORC2,upstream_gene_variant,,ENST00000445980,;MORC2-AS1,downstream_gene_variant,,ENST00000441558,;MORC2,downstream_gene_variant,,ENST00000469915,;	3023	69	58	SUCCESS
TBC1D8	11138	.	GRCh37	2	101635522	101635522	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	48	0	ENST00000376840.4:c.2782+2621T>A		p.*928*	ENST00000376840				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46373.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGATGAGG	NONE	.	.	.	.	.	ENSP00000386717	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409028	Transcript	.	.	ENSG00000071082	10334	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL31_HUMAN	RPL31	HGNC	C9JU56_HUMAN	.	UPI0000EE6D67	SNV	RPL31,3_prime_UTR_variant,,ENST00000409028,;TBC1D8,intron_variant,,ENST00000376840,;TBC1D8,intron_variant,,ENST00000409318,;RPL31,intron_variant,,ENST00000441435,;RPL31,downstream_gene_variant,,ENST00000409650,;RPL31,downstream_gene_variant,,ENST00000409038,;TBC1D8,intron_variant,,ENST00000494011,;	442	48	52	SUCCESS
SCN7A	6332	.	GRCh37	2	167273323	167273323	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	121	278	1	ENST00000409855.1:c.3308A>C	p.Asn1103Thr	p.N1103T	ENST00000409855	NM_002976.3	1103	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS46442.1	3308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTATTCATG	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0.01)	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,missense_variant,p.Asn1103Thr,ENST00000409855,;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	3435	280	295	SUCCESS
SP9	100131390	.	GRCh37	2	175200837	175200837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	107	164	0	ENST00000394967.2:c.24A>T	p.Glu8Asp	p.E8D	ENST00000394967	NM_001145250.1	8	gaA/gaT	0	.	.	.	.	.	T	F/I	protein_coding	YES	.	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAAGAGCC	NONE	.	.	.	.	.	ENSP00000469828	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000595354	Transcript	.	.	ENSG00000268241	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	YB011_HUMAN	AC018470.1	Clone_based_ensembl_gene	.	.	UPI00001C0F85	SNV	AC018470.1,missense_variant,p.Phe439Ile,ENST00000595354,;SP9,missense_variant,p.Glu8Asp,ENST00000394967,;	1315	164	212	SUCCESS
TRIP12	9320	.	GRCh37	2	230668295	230668295	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	62	142	0	ENST00000283943.5:c.2765G>A	p.Arg922Lys	p.R922K	ENST00000283943	NM_004238.1	922	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS33391.1	2765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCTGAAG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	19/41	.	.	.	.	.	.	.	.	.	19/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	tolerated(0.07)	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	SNV	TRIP12,missense_variant,p.Arg922Lys,ENST00000283943,;TRIP12,missense_variant,p.Arg652Lys,ENST00000389045,;TRIP12,missense_variant,p.Arg970Lys,ENST00000389044,;TRIP12,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000487178,;TRIP12,downstream_gene_variant,,ENST00000479037,;	2944	142	149	SUCCESS
SFXN5	94097	.	GRCh37	2	73195621	73195621	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757166628	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	63	244	0	ENST00000272433.2:c.783G>A	p.Met261Ile	p.M261I	ENST00000272433	NM_144579.2	261	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1922.1	783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCATGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF17,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820	.	.	ENSP00000272433	.	12/14	.	.	.	.	.	.	.	.	rs757166628	12/14	PASS	ENST00000272433	Transcript	.	.	ENSG00000144040	16073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.48)	.	SFXN5_HUMAN	SFXN5	HGNC	.	.	UPI000006D292	SNV	SFXN5,missense_variant,p.Met261Ile,ENST00000272433,;SFXN5,missense_variant,p.Ala213Thr,ENST00000411783,;SFXN5,intron_variant,,ENST00000410065,;SFXN5,non_coding_transcript_exon_variant,,ENST00000482289,;SFXN5,non_coding_transcript_exon_variant,,ENST00000495208,;SFXN5,non_coding_transcript_exon_variant,,ENST00000463277,;SFXN5,non_coding_transcript_exon_variant,,ENST00000490056,;SFXN5,non_coding_transcript_exon_variant,,ENST00000482542,;SFXN5,non_coding_transcript_exon_variant,,ENST00000474528,;SFXN5,non_coding_transcript_exon_variant,,ENST00000461352,;SFXN5,downstream_gene_variant,,ENST00000416579,;	914	245	233	SUCCESS
SMYD1	150572	.	GRCh37	2	88383836	88383836	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	52	106	0	ENST00000419482.2:c.139C>T	p.Leu47Phe	p.L47F	ENST00000419482	NM_198274.3	47	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33240.1	139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCTTGTT	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR12197:SF16,hmmpanther:PTHR12197,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000393453	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000419482	Transcript	.	.	ENSG00000115593	20986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.41)	.	SMYD1_HUMAN	SMYD1	HGNC	Q5GJ33_HUMAN	.	UPI000006EB68	SNV	SMYD1,missense_variant,p.Leu47Phe,ENST00000444564,;SMYD1,missense_variant,p.Leu47Phe,ENST00000438570,;SMYD1,missense_variant,p.Leu47Phe,ENST00000419482,;MIR4780,upstream_gene_variant,,ENST00000584268,;SMYD1,splice_region_variant,,ENST00000468008,;	224	106	114	SUCCESS
ZBTB20	26137	.	GRCh37	3	114070355	114070355	+	synonymous_variant	Silent	SNP	C	C	T	rs752505202	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	33	0	ENST00000474710.1:c.570G>A	p.Thr190=	p.T190=	ENST00000474710	NM_001164342.1	190	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54626.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCGCGTGCA	NONE	byFrequency	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF351,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000419153	.	4/5	.	.	.	.	.	.	.	.	rs752505202,COSM727102	4/5	PASS	ENST00000474710	Transcript	.	.	ENSG00000181722	13503	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZBT20_HUMAN	ZBTB20	HGNC	C9JCX0_HUMAN	.	UPI0000141957	SNV	ZBTB20,synonymous_variant,p.%3D,ENST00000481632,;ZBTB20,synonymous_variant,p.%3D,ENST00000462705,;ZBTB20,synonymous_variant,p.%3D,ENST00000471418,;ZBTB20,synonymous_variant,p.%3D,ENST00000357258,;ZBTB20,synonymous_variant,p.%3D,ENST00000474710,;ZBTB20,synonymous_variant,p.%3D,ENST00000464560,;ZBTB20,synonymous_variant,p.%3D,ENST00000393785,;ZBTB20,downstream_gene_variant,,ENST00000470311,;ZBTB20-AS1,upstream_gene_variant,,ENST00000475939,;ZBTB20-AS1,upstream_gene_variant,,ENST00000467304,;ZBTB20-AS1,upstream_gene_variant,,ENST00000496219,;ZBTB20,intron_variant,,ENST00000479879,;	749	33	37	SUCCESS
HEG1	57493	.	GRCh37	3	124731574	124731574	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	70	0	ENST00000311127.4:c.2849C>T	p.Pro950Leu	p.P950L	ENST00000311127	NM_020733.1	950	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS46898.1	2849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGGGAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24037:SF2,hmmpanther:PTHR24037	.	.	ENSP00000311502	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000311127	Transcript	.	.	ENSG00000173706	29227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious(0)	.	HEG1_HUMAN	HEG1	HGNC	.	.	UPI00006C069B	SNV	HEG1,missense_variant,p.Pro950Leu,ENST00000311127,;HEG1,downstream_gene_variant,,ENST00000477536,;HEG1,upstream_gene_variant,,ENST00000488654,;	2917	70	44	SUCCESS
MAP4	4134	.	GRCh37	3	47958322	47958322	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	93	0	ENST00000360240.6:c.995A>C	p.Lys332Thr	p.K332T	ENST00000360240	NM_002375.4	332	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33750.1	995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTTGGCT	NONE	.	.	hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF16	.	.	ENSP00000353375	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000360240	Transcript	.	.	ENSG00000047849	6862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	deleterious(0.02)	.	MAP4_HUMAN	MAP4	HGNC	.	.	UPI000020A6A4	SNV	MAP4,missense_variant,p.Lys349Thr,ENST00000426837,;MAP4,missense_variant,p.Lys332Thr,ENST00000360240,;MAP4,missense_variant,p.Lys332Thr,ENST00000395734,;MAP4,intron_variant,,ENST00000383737,;MAP4,downstream_gene_variant,,ENST00000423088,;MAP4,intron_variant,,ENST00000482752,;	1514	93	67	SUCCESS
BSN	8927	.	GRCh37	3	49693730	49693730	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	95	0	ENST00000296452.4:c.6741T>G	p.Ile2247Met	p.I2247M	ENST00000296452	NM_003458.3	2247	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS2800.1	6741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATTGCCCC	NONE	.	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Ile2247Met,ENST00000296452,;BSN,downstream_gene_variant,,ENST00000467456,;	6855	95	56	SUCCESS
MAPK10	5602	.	GRCh37	4	86988958	86988958	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	49	184	1	ENST00000359221.3:c.953T>A	p.Phe318Tyr	p.F318Y	ENST00000359221		318	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS34026.1	953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAAGAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF162,hmmpanther:PTHR24055,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01772	.	.	ENSP00000352157	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000359221	Transcript	1	.	ENSG00000109339	6872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	MK10_HUMAN	MAPK10	HGNC	D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN	.	UPI0000049042	SNV	MAPK10,missense_variant,p.Phe173Tyr,ENST00000449047,;MAPK10,missense_variant,p.Phe173Tyr,ENST00000395160,;MAPK10,missense_variant,p.Phe318Tyr,ENST00000361569,;MAPK10,missense_variant,p.Phe280Tyr,ENST00000395169,;MAPK10,missense_variant,p.Phe173Tyr,ENST00000395157,;MAPK10,missense_variant,p.Phe318Tyr,ENST00000359221,;MAPK10,missense_variant,p.Phe231Tyr,ENST00000515400,;MAPK10,missense_variant,p.Phe280Tyr,ENST00000395166,;MAPK10,missense_variant,p.Phe318Tyr,ENST00000395161,;MAPK10,downstream_gene_variant,,ENST00000489368,;MAPK10,3_prime_UTR_variant,,ENST00000310816,;MAPK10,non_coding_transcript_exon_variant,,ENST00000508262,;	1480	185	145	SUCCESS
APC	324	.	GRCh37	5	112174286	112174286	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs75239284	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	47	90	0	ENST00000257430.4:c.2995C>T	p.Gln999Ter	p.Q999*	ENST00000257430	NM_000038.5	999	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS4107.1	2995	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	other	ATGGTCAATAC	NONE	.	.	hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	CM994279,rs75239284,COSM4169182	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	0,0,1	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,stop_gained,p.Gln999Ter,ENST00000257430,;APC,stop_gained,p.Gln999Ter,ENST00000457016,;APC,stop_gained,p.Gln981Ter,ENST00000507379,;APC,stop_gained,p.Gln999Ter,ENST00000508376,;APC,stop_gained,p.Gln999Ter,ENST00000512211,;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,non_coding_transcript_exon_variant,,ENST00000502371,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000514164,;	3375	90	102	SUCCESS
HSD17B4	3295	.	GRCh37	5	118788315	118788315	+	synonymous_variant	Silent	SNP	C	C	T	rs751737033	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	53	0	ENST00000256216.6:c.45C>T	p.Thr15=	p.T15=	ENST00000256216	NM_000414.3	15	acC/acT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56379.1	.	MUTECT|MUSE	.	GTCACCGGCGC	NONE	byFrequency	.	.	.	.	ENSP00000420914	.	1/25	.	.	.	.	.	.	.	.	rs751737033,CD060119	1/25	PASS	ENST00000504811	Transcript	1	.	ENSG00000133835	5213	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	.	DHB4_HUMAN	HSD17B4	HGNC	Q9UBA4_HUMAN,E7EWE5_HUMAN,E7ET17_HUMAN	.	UPI0001AE7403	SNV	HSD17B4,synonymous_variant,p.%3D,ENST00000256216,;HSD17B4,synonymous_variant,p.%3D,ENST00000515320,;HSD17B4,5_prime_UTR_variant,,ENST00000504811,;HSD17B4,5_prime_UTR_variant,,ENST00000510025,;HSD17B4,upstream_gene_variant,,ENST00000414835,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000519184,;HSD17B4,upstream_gene_variant,,ENST00000512841,;HSD17B4,synonymous_variant,p.%3D,ENST00000442060,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000515235,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000511186,;HSD17B4,upstream_gene_variant,,ENST00000508750,;HSD17B4,upstream_gene_variant,,ENST00000503168,;HSD17B4,upstream_gene_variant,,ENST00000507695,;	51	53	59	SUCCESS
SLC6A19	340024	.	GRCh37	5	1221849	1221849	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772229902	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	56	134	0	ENST00000304460.10:c.1735C>A	p.Pro579Thr	p.P579T	ENST00000304460	NM_001003841.2	579	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34130.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCCGAAC	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000305302	.	12/12	.	.	.	.	.	.	.	.	rs772229902	12/12	PASS	ENST00000304460	Transcript	1	.	ENSG00000174358	27960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	S6A19_HUMAN	SLC6A19	HGNC	B3KVZ8_HUMAN	.	UPI0000401AF8	SNV	SLC6A19,missense_variant,p.Pro579Thr,ENST00000304460,;SLC6A18,upstream_gene_variant,,ENST00000324642,;SLC6A18,upstream_gene_variant,,ENST00000296821,;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;SLC6A18,upstream_gene_variant,,ENST00000513607,;	1791	134	116	SUCCESS
PCDHGA5	56110	.	GRCh37	5	140745479	140745479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	78	0	ENST00000518069.1:c.1582C>A	p.Leu528Ile	p.L528I	ENST00000518069	NM_018918.2	528	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS54925.1	1582	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACCTACAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000429834	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518069	Transcript	.	.	ENSG00000253485	8703	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.764)	.	tolerated_low_confidence(0.08)	.	PCDG5_HUMAN	PCDHGA5	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006CD9F	SNV	PCDHGA5,missense_variant,p.Leu528Ile,ENST00000518069,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGB3,upstream_gene_variant,,ENST00000576222,;	1582	78	74	SUCCESS
MBOAT1	154141	.	GRCh37	6	20124766	20124766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	67	131	0	ENST00000324607.7:c.780G>T	p.Lys260Asn	p.K260N	ENST00000324607	NM_001080480.2	260	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS34346.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTCTTCGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906,Pfam_domain:PF03062	.	.	ENSP00000324944	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000324607	Transcript	.	.	ENSG00000172197	21579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	tolerated(0.05)	.	MBOA1_HUMAN	MBOAT1	HGNC	.	.	UPI000020D5D0	SNV	MBOAT1,missense_variant,p.Lys111Asn,ENST00000541730,;MBOAT1,missense_variant,p.Lys260Asn,ENST00000324607,;MBOAT1,downstream_gene_variant,,ENST00000536798,;	945	131	161	SUCCESS
PSORS1C1	170679	.	GRCh37	6	31084730	31084730	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	62	87	0	ENST00000259881.9:c.-229+2062T>C		p.*77*	ENST00000259881	NM_014068.2	221		0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS34389.1	662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGTCCGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23207:SF1,hmmpanther:PTHR23207	.	.	ENSP00000365465	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376288	Transcript	.	.	ENSG00000204539	1802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	.	CDSN	HGNC	Q7Z560_HUMAN,G8JLG2_HUMAN	.	UPI00001AFE92	SNV	CDSN,missense_variant,p.Asp221Gly,ENST00000376288,;PSORS1C1,intron_variant,,ENST00000259881,;C6orf15,upstream_gene_variant,,ENST00000259870,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000467107,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,intron_variant,,ENST00000493289,;PSORS1C1,intron_variant,,ENST00000548049,;PSORS1C1,intron_variant,,ENST00000552747,;PSORS1C1,intron_variant,,ENST00000550838,;	689	87	115	SUCCESS
UBR2	23304	.	GRCh37	6	42610159	42610159	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	49	0	ENST00000372899.1:c.2037T>G	p.Tyr679Ter	p.Y679*	ENST00000372899	NM_015255.2	679	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS4870.1	2037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATTACTA	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	18/47	.	.	.	.	.	.	.	.	.	18/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,stop_gained,p.Tyr679Ter,ENST00000372901,;UBR2,stop_gained,p.Tyr183Ter,ENST00000372883,;UBR2,stop_gained,p.Tyr679Ter,ENST00000372899,;	2295	49	52	SUCCESS
COL19A1	1310	.	GRCh37	6	70894595	70894595	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	29	85	0	ENST00000322773.4:c.2776G>A	p.Gly926Arg	p.G926R	ENST00000322773	NM_001858.4	926	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS4970.1	2776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGGGAATA	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	.	.	ENSP00000316030	.	45/51	.	.	.	.	.	.	.	.	.	45/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Gly926Arg,ENST00000322773,;COL19A1,missense_variant,p.Gly548Arg,ENST00000393344,;	2878	85	93	SUCCESS
RARS2	57038	.	GRCh37	6	88227931	88227931	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	96	0	ENST00000369536.5:c.1467T>C	p.Cys489=	p.C489=	ENST00000369536	NM_020320.3	489	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS5011.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAAACAAGC	NONE	.	.	hmmpanther:PTHR11956:SF3,hmmpanther:PTHR11956,Gene3D:1.10.730.10,Pfam_domain:PF05746,TIGRFAM_domain:TIGR00456,SMART_domains:SM00836,Superfamily_domains:SSF47323	.	.	ENSP00000358549	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000369536	Transcript	.	.	ENSG00000146282	21406	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYRM_HUMAN	RARS2	HGNC	H0UI22_HUMAN	.	UPI000020D2E6	SNV	RARS2,synonymous_variant,p.%3D,ENST00000369536,;RARS2,downstream_gene_variant,,ENST00000497828,;RARS2,upstream_gene_variant,,ENST00000493269,;	1513	96	113	SUCCESS
CAV1	857	.	GRCh37	7	116165144	116165144	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs370105972	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	18	96	0	ENST00000341049.2:c.28G>A	p.Glu10Lys	p.E10K	ENST00000341049	NM_001753.4	10	Gag/Aag	0	T:0	.	.	.	.	A	E/K	protein_coding	YES	CCDS5767.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGGAGGTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10844,hmmpanther:PTHR10844:SF5	.	T:0.0001	ENSP00000339191	.	1/3	.	.	.	.	.	.	.	.	rs370105972	1/3	PASS	ENST00000341049	Transcript	.	.	ENSG00000105974	1527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.04)	.	CAV1_HUMAN	CAV1	HGNC	Q2TNI1_HUMAN,C9JKI3_HUMAN	.	UPI00001270ED	SNV	CAV1,missense_variant,p.Glu10Lys,ENST00000341049,;CAV1,missense_variant,p.Glu10Lys,ENST00000393470,;CAV1,upstream_gene_variant,,ENST00000456473,;CAV1,upstream_gene_variant,,ENST00000393468,;CAV1,upstream_gene_variant,,ENST00000393467,;CAV1,upstream_gene_variant,,ENST00000405348,;CAV1,missense_variant,p.Glu10Lys,ENST00000451122,;CAV1,splice_region_variant,,ENST00000489856,;	306	96	94	SUCCESS
AC005013.1	0	.	GRCh37	7	28997603	28997603	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	8	0	ENST00000539664.1:n.427G>A		p.*143*	ENST00000539664				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	AGCGGCGGGAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000436594	Transcript	.	.	ENSG00000228421	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC005013.5	Clone_based_vega_gene	.	.	.	SNV	AC005013.5,intron_variant,,ENST00000436594,;TRIL,non_coding_transcript_exon_variant,,ENST00000322982,;AC005013.1,non_coding_transcript_exon_variant,,ENST00000539664,;	.	8	11	SUCCESS
TNRC18	84629	.	GRCh37	7	5416611	5416611	+	synonymous_variant	Silent	SNP	T	T	C	rs754690082	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	128	0	ENST00000430969.1:c.2475A>G	p.Pro825=	p.P825=	ENST00000430969	NM_001080495.2	825	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47534.1	2475	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATGGGGG	NONE	byFrequency	.	hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	8/30	.	.	.	.	.	.	.	.	rs754690082	8/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,synonymous_variant,p.%3D,ENST00000430969,;TNRC18,synonymous_variant,p.%3D,ENST00000413081,;TNRC18,synonymous_variant,p.%3D,ENST00000399537,;	2824	128	102	SUCCESS
GNG11	2791	.	GRCh37	7	93551361	93551362	+	5_prime_UTR_variant	5'UTR	INS	-	-	TA	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	70	47	90	0	ENST00000248564.5:c.-89_-88insTA		p.*30*	ENST00000248564	NM_004126.3			0	.	.	.	.	.	TA	.	protein_coding	YES	CCDS5634.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGCCTTCA	NONE	.	.	.	.	.	ENSP00000248564	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000248564	Transcript	.	.	ENSG00000127920	4403	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBG11_HUMAN	GNG11	HGNC	Q53Y01_HUMAN	.	UPI0000001AD4	insertion	GNG11,5_prime_UTR_variant,,ENST00000248564,;	351-352	90	117	SUCCESS
GAL3ST4	79690	.	GRCh37	7	99764793	99764793	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	22	38	0	ENST00000360039.4:c.-75C>G		p.*25*	ENST00000360039	NM_024637.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5688.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGACAGCCGTG	NONE	.	.	.	.	.	ENSP00000353142	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000360039	Transcript	.	.	ENSG00000197093	24145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	G3ST4_HUMAN	GAL3ST4	HGNC	.	.	UPI0000070C68	SNV	GAL3ST4,missense_variant,p.Ala15Gly,ENST00000426974,;GAL3ST4,5_prime_UTR_variant,,ENST00000413800,;GAL3ST4,5_prime_UTR_variant,,ENST00000411994,;GAL3ST4,5_prime_UTR_variant,,ENST00000423751,;GAL3ST4,5_prime_UTR_variant,,ENST00000360039,;GPC2,downstream_gene_variant,,ENST00000292377,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000460995,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000482469,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000498000,;GPC2,downstream_gene_variant,,ENST00000471050,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000495882,;GPC2,downstream_gene_variant,,ENST00000486702,;GPC2,downstream_gene_variant,,ENST00000490629,;	319	38	41	SUCCESS
FBXO43	286151	.	GRCh37	8	101153180	101153180	+	synonymous_variant	Silent	SNP	T	T	C	rs947225821	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	293	37	143	0	ENST00000428847.2:c.1302A>G	p.Leu434=	p.L434=	ENST00000428847	NM_001029860.3	434	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47904.1	1302	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTAAGCT	NONE	.	.	hmmpanther:PTHR15493:SF1,hmmpanther:PTHR15493	.	.	ENSP00000403293	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000428847	Transcript	.	.	ENSG00000156509	28521	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBX43_HUMAN	FBXO43	HGNC	.	.	UPI000013DE8F	SNV	FBXO43,synonymous_variant,p.%3D,ENST00000428847,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,non_coding_transcript_exon_variant,,ENST00000520987,;	1619	143	330	SUCCESS
KCNV1	27012	.	GRCh37	8	110980791	110980791	+	synonymous_variant	Silent	SNP	G	G	A	rs754470123	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	19	50	0	ENST00000297404.1:c.1029C>T	p.Tyr343=	p.Y343=	ENST00000297404	NM_014379.2	343	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6314.1	1029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGTAACA	NONE	byFrequency	.	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF38,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000435954	.	4/4	.	.	.	.	.	.	.	.	rs754470123	4/4	PASS	ENST00000524391	Transcript	.	.	ENSG00000164794	18861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNV1_HUMAN	KCNV1	HGNC	Q76FP2_HUMAN,B4DMC1_HUMAN	.	UPI0000073DA5	SNV	KCNV1,synonymous_variant,p.%3D,ENST00000297404,;KCNV1,synonymous_variant,p.%3D,ENST00000524391,;	2062	50	102	SUCCESS
CSMD3	114788	.	GRCh37	8	113347573	113347574	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1230860045	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	180	23	83	0	ENST00000297405.5:c.7149dup	p.Val2384CysfsTer22	p.V2384Cfs*22	ENST00000297405	NM_198123.1	2383	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS6315.1	7149-7150	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCACAAAAA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	45/71	.	.	.	.	.	.	.	.	.	45/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	insertion	CSMD3,frameshift_variant,p.Val2314CysfsTer22,ENST00000352409,;CSMD3,frameshift_variant,p.Val2280CysfsTer22,ENST00000455883,;CSMD3,frameshift_variant,p.Val2384CysfsTer22,ENST00000297405,;CSMD3,frameshift_variant,p.Val1654CysfsTer22,ENST00000339701,;CSMD3,frameshift_variant,p.Val2344CysfsTer22,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	7394-7395	83	203	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145755886	145755886	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	25	91	0	ENST00000276826.5:c.3172G>C	p.Glu1058Gln	p.E1058Q	ENST00000276826		1058	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34971.1	3265	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTCGAAGA	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00324,Gene3D:1.10.555.10,hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177,PROSITE_profiles:PS50238	.	.	ENSP00000366522	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.575)	.	deleterious(0)	.	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,missense_variant,p.Glu1058Gln,ENST00000276826,;ARHGAP39,missense_variant,p.Glu1058Gln,ENST00000540274,;ARHGAP39,missense_variant,p.Glu1089Gln,ENST00000377307,;C8orf82,upstream_gene_variant,,ENST00000532827,;LRRC24,upstream_gene_variant,,ENST00000529415,;LRRC24,upstream_gene_variant,,ENST00000533758,;C8orf82,upstream_gene_variant,,ENST00000527462,;C8orf82,upstream_gene_variant,,ENST00000524821,;C8orf82,upstream_gene_variant,,ENST00000313465,;C8orf82,upstream_gene_variant,,ENST00000534680,;	3350	91	181	SUCCESS
PRKDC	5591	.	GRCh37	8	48701573	48701573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147753989	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	184	117	1	ENST00000314191.2:c.10793C>T	p.Thr3598Ile	p.T3598I	ENST00000314191	NM_006904.6	3598	aCc/aTc	0	.	C:0	.	C:0	.	A	T/I	protein_coding	YES	.	10793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGTTTTT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	C:0.002	.	ENSP00000313420	C:0	77/87	.	.	.	.	.	.	.	.	rs147753989	77/87	PASS	ENST00000314191	Transcript	1	C:0.0004	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	C:0	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Thr3598Ile,ENST00000338368,;PRKDC,missense_variant,p.Thr3598Ile,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000432581,;	10850	118	261	SUCCESS
DPP7	29952	.	GRCh37	9	140008803	140008803	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs779091380	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	68	0	ENST00000371579.2:c.213C>G	p.Ile71Met	p.I71M	ENST00000371579	NM_013379.2	71	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS7030.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGATGGG	NONE	.	.	hmmpanther:PTHR11010:SF29,hmmpanther:PTHR11010,Gene3D:3.40.50.1820,Pfam_domain:PF05577	.	.	ENSP00000360635	.	3/13	.	.	.	.	.	.	.	.	rs779091380	3/13	PASS	ENST00000371579	Transcript	.	.	ENSG00000176978	14892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0.03)	.	DPP2_HUMAN	DPP7	HGNC	.	.	UPI00001AF169	SNV	DPP7,missense_variant,p.Ile68Met,ENST00000497375,;DPP7,missense_variant,p.Ile71Met,ENST00000371579,;DPP7,5_prime_UTR_variant,,ENST00000473703,;DPP7,upstream_gene_variant,,ENST00000463619,;DPP7,missense_variant,p.Ser63Cys,ENST00000472306,;DPP7,missense_variant,p.Ile21Met,ENST00000473532,;DPP7,non_coding_transcript_exon_variant,,ENST00000491807,;DPP7,non_coding_transcript_exon_variant,,ENST00000485456,;DPP7,non_coding_transcript_exon_variant,,ENST00000478597,;DPP7,upstream_gene_variant,,ENST00000483783,;DPP7,upstream_gene_variant,,ENST00000482088,;DPP7,upstream_gene_variant,,ENST00000460830,;DPP7,upstream_gene_variant,,ENST00000470766,;	218	69	57	SUCCESS
TLN1	7094	.	GRCh37	9	35703656	35703656	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	64	1	ENST00000314888.9:c.6375G>C	p.Val2125=	p.V2125=	ENST00000314888	NM_006289.3	2125	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS35009.1	6375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTCACATT	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	48/57	.	.	.	.	.	.	.	.	.	48/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,synonymous_variant,p.%3D,ENST00000540444,;TLN1,synonymous_variant,p.%3D,ENST00000314888,;TLN1,non_coding_transcript_exon_variant,,ENST00000464379,;TLN1,upstream_gene_variant,,ENST00000489255,;TLN1,downstream_gene_variant,,ENST00000495712,;TLN1,non_coding_transcript_exon_variant,,ENST00000466916,;TLN1,downstream_gene_variant,,ENST00000486788,;TLN1,downstream_gene_variant,,ENST00000465002,;	6729	65	72	SUCCESS
UBQLN1	29979	.	GRCh37	9	86297921	86297921	+	synonymous_variant	Silent	SNP	T	T	C	rs767464742	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	80	0	ENST00000376395.4:c.393A>G	p.Ser131=	p.S131=	ENST00000376395	NM_053067.2	131	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6663.1	393	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTTGATGA	NONE	.	.	hmmpanther:PTHR10677:SF16,hmmpanther:PTHR10677,Low_complexity_(Seg):seg	.	.	ENSP00000365576	.	3/11	.	.	.	.	.	.	.	.	rs767464742	3/11	PASS	ENST00000376395	Transcript	.	.	ENSG00000135018	12508	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBQL1_HUMAN	UBQLN1	HGNC	.	.	UPI0000038DA1	SNV	UBQLN1,synonymous_variant,p.%3D,ENST00000376395,;UBQLN1,synonymous_variant,p.%3D,ENST00000257468,;UBQLN1,intron_variant,,ENST00000529923,;UBQLN1,non_coding_transcript_exon_variant,,ENST00000533705,;	917	80	58	SUCCESS
COL4A6	1288	.	GRCh37	X	107422545	107422545	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	157	330	0	ENST00000372216.4:c.2258T>G	p.Ile753Ser	p.I753S	ENST00000372216	NM_001847.2	753	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS14541.1	2258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGATGTCA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164	.	.	ENSP00000361290	.	26/45	.	.	.	.	.	.	.	.	.	26/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,missense_variant,p.Ile753Ser,ENST00000394872,;COL4A6,missense_variant,p.Ile753Ser,ENST00000372216,;COL4A6,missense_variant,p.Ile752Ser,ENST00000334504,;COL4A6,missense_variant,p.Ile752Ser,ENST00000545689,;COL4A6,missense_variant,p.Ile752Ser,ENST00000538570,;	2359	330	341	SUCCESS
SH3KBP1	30011	.	GRCh37	X	19560151	19560151	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	44	256	0	ENST00000397821.3:c.1784G>A	p.Gly595Glu	p.G595E	ENST00000397821	NM_031892.2	595	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS14193.1	1784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTCCTTCC	NONE	.	.	hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF6	.	.	ENSP00000380921	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000397821	Transcript	.	.	ENSG00000147010	13867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0.01)	.	SH3K1_HUMAN	SH3KBP1	HGNC	Q5JPT6_HUMAN,B7Z6E8_HUMAN	.	UPI000006CC82	SNV	SH3KBP1,missense_variant,p.Gly558Glu,ENST00000379698,;SH3KBP1,missense_variant,p.Gly595Glu,ENST00000397821,;SH3KBP1,missense_variant,p.Gly575Glu,ENST00000379726,;SH3KBP1,missense_variant,p.Gly334Glu,ENST00000541422,;SH3KBP1,missense_variant,p.Gly357Glu,ENST00000379716,;	2075	257	210	SUCCESS
ZNF33A	7581	.	GRCh37	10	38343571	38343571	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	80	0	ENST00000458705.2:c.516T>C	p.Cys172=	p.C172=	ENST00000458705		172	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS44372.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTGGGAA	NONE	.	.	hmmpanther:PTHR24377:SF204,hmmpanther:PTHR24377	.	.	ENSP00000363747	.	5/5	.	.	.	.	.	.	.	.	COSM3935051,COSM3935052	5/5	PASS	ENST00000374618	Transcript	.	.	ENSG00000189180	13096	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ZN33A_HUMAN	ZNF33A	HGNC	.	.	UPI0000161788	SNV	ZNF33A,synonymous_variant,p.%3D,ENST00000432900,;ZNF33A,synonymous_variant,p.%3D,ENST00000307441,;ZNF33A,synonymous_variant,p.%3D,ENST00000458705,;ZNF33A,synonymous_variant,p.%3D,ENST00000374618,;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;	697	80	52	SUCCESS
FBXO18	0	.	GRCh37	10	5945117	5945117	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	76	0	ENST00000379999.5:c.289A>T	p.Arg97Ter	p.R97*	ENST00000379999	NM_032807.4	97	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS7073.1	289	RADIA|MUTECT|MUSE|VARSCANS	.	AACCGAGAACA	NONE	.	.	.	.	.	ENSP00000369335	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,stop_gained,p.Arg46Ter,ENST00000362091,;FBXO18,stop_gained,p.Arg97Ter,ENST00000379999,;FBXO18,5_prime_UTR_variant,,ENST00000397269,;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,intron_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000469009,;FBXO18,upstream_gene_variant,,ENST00000494526,;	393	76	59	SUCCESS
SORBS1	10580	.	GRCh37	10	97197265	97197265	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	11	162	0	ENST00000361941.3:c.58A>T	p.Ser20Cys	p.S20C	ENST00000361941	NM_001034954.1	20	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31255.1	58	MUTECT|MUSE|VARSCANS	.	ATTGCTGCCAG	NONE	.	.	.	.	.	ENSP00000360293	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000371247	Transcript	.	.	ENSG00000095637	14565	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.839)	.	tolerated_low_confidence(0.06)	.	SRBS1_HUMAN	SORBS1	HGNC	.	.	UPI000013D6B7	SNV	SORBS1,missense_variant,p.Ser20Cys,ENST00000371239,;SORBS1,missense_variant,p.Ser20Cys,ENST00000607232,;SORBS1,missense_variant,p.Ser20Cys,ENST00000353505,;SORBS1,missense_variant,p.Ser20Cys,ENST00000492542,;SORBS1,missense_variant,p.Ser20Cys,ENST00000371227,;SORBS1,missense_variant,p.Ser20Cys,ENST00000371241,;SORBS1,missense_variant,p.Ser20Cys,ENST00000371245,;SORBS1,missense_variant,p.Ser20Cys,ENST00000306402,;SORBS1,missense_variant,p.Ser20Cys,ENST00000371247,;SORBS1,missense_variant,p.Ser20Cys,ENST00000347291,;SORBS1,missense_variant,p.Ser20Cys,ENST00000361941,;SORBS1,missense_variant,p.Ser20Cys,ENST00000277982,;SORBS1,missense_variant,p.Ser20Cys,ENST00000393949,;SORBS1,missense_variant,p.Ser20Cys,ENST00000354106,;SORBS1,missense_variant,p.Ser20Cys,ENST00000371249,;SORBS1,missense_variant,p.Ser20Cys,ENST00000371246,;SORBS1,non_coding_transcript_exon_variant,,ENST00000474353,;	248	162	129	SUCCESS
ACAD8	27034	.	GRCh37	11	134127137	134127137	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	62	0	ENST00000281182.4:c.366T>C	p.Tyr122=	p.Y122=	ENST00000281182	NM_014384.2	122	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS8498.1	366	MUTECT|MUSE	.	GCCTATATAAG	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Gene3D:1.10.540.10,Pfam_domain:PF02771,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645	.	.	ENSP00000281182	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,synonymous_variant,p.%3D,ENST00000281182,;ACAD8,synonymous_variant,p.%3D,ENST00000537423,;ACAD8,intron_variant,,ENST00000543332,;ACAD8,intron_variant,,ENST00000374752,;THYN1,upstream_gene_variant,,ENST00000352327,;THYN1,upstream_gene_variant,,ENST00000341541,;THYN1,upstream_gene_variant,,ENST00000392594,;ACAD8,upstream_gene_variant,,ENST00000524502,;THYN1,upstream_gene_variant,,ENST00000392595,;ACAD8,intron_variant,,ENST00000524547,;THYN1,upstream_gene_variant,,ENST00000525677,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000528325,;ACAD8,non_coding_transcript_exon_variant,,ENST00000534433,;ACAD8,intron_variant,,ENST00000527082,;ACAD8,intron_variant,,ENST00000524426,;ACAD8,intron_variant,,ENST00000530533,;ACAD8,intron_variant,,ENST00000534240,;ACAD8,intron_variant,,ENST00000533387,;ACAD8,upstream_gene_variant,,ENST00000524739,;ACAD8,upstream_gene_variant,,ENST00000527713,;ACAD8,upstream_gene_variant,,ENST00000527665,;THYN1,upstream_gene_variant,,ENST00000531135,;THYN1,upstream_gene_variant,,ENST00000533975,;ACAD8,downstream_gene_variant,,ENST00000525961,;	472	62	74	SUCCESS
TSSC4	10078	.	GRCh37	11	2424029	2424029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	11	87	0	ENST00000333256.6:c.166G>T	p.Gly56Trp	p.G56W	ENST00000333256		56	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS7735.1	166	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTGGGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13445,hmmpanther:PTHR13445:SF3	.	.	ENSP00000331087	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333256	Transcript	.	.	ENSG00000184281	12386	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.068)	.	deleterious(0.01)	.	TSSC4_HUMAN	TSSC4	HGNC	E9PME3_HUMAN,E9PL88_HUMAN,C9JHT9_HUMAN,C9JDU0_HUMAN	.	UPI0000161FA5	SNV	TSSC4,missense_variant,p.Gly56Trp,ENST00000451491,;TSSC4,missense_variant,p.Gly56Trp,ENST00000496468,;TSSC4,missense_variant,p.Gly56Trp,ENST00000437110,;TSSC4,missense_variant,p.Gly56Trp,ENST00000435795,;TSSC4,missense_variant,p.Gly56Trp,ENST00000485682,;TSSC4,missense_variant,p.Gly56Trp,ENST00000333256,;TSSC4,intron_variant,,ENST00000380992,;TSSC4,intron_variant,,ENST00000440813,;TSSC4,intron_variant,,ENST00000380996,;TRPM5,downstream_gene_variant,,ENST00000533060,;TRPM5,downstream_gene_variant,,ENST00000533881,;TRPM5,downstream_gene_variant,,ENST00000528453,;TRPM5,downstream_gene_variant,,ENST00000452833,;TRPM5,downstream_gene_variant,,ENST00000155858,;AC124057.5,upstream_gene_variant,,ENST00000433035,;TSSC4,upstream_gene_variant,,ENST00000467308,;	609	87	94	SUCCESS
CLEC1A	51267	.	GRCh37	12	10228256	10228256	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs1223867794	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	93	0	ENST00000315330.4:c.392-2A>G		p.X131_splice	ENST00000315330	NM_016511.2	131		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8612.1	.	MUTECT|MUSE	.	TGTGCTTGGAA	NONE	.	.	.	.	.	ENSP00000326407	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315330	Transcript	.	.	ENSG00000150048	24355	.	.	HIGH	3/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLC1A_HUMAN	CLEC1A	HGNC	F8WCT4_HUMAN	.	UPI00000746EB	SNV	CLEC1A,splice_acceptor_variant,,ENST00000315330,;CLEC1A,splice_acceptor_variant,,ENST00000420265,;CLEC1A,splice_acceptor_variant,,ENST00000457018,;	.	93	108	SUCCESS
SETD8	0	.	GRCh37	12	123880924	123880924	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	42	0	ENST00000330479.4:c.542T>G	p.Leu181Arg	p.L181R	ENST00000330479	NM_020382.3	181	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS9247.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTTACGG	NONE	.	.	PROSITE_profiles:PS51571,Gene3D:2.170.270.10,PIRSF_domain:PIRSF027717	.	.	ENSP00000384629	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000402868	Transcript	.	.	ENSG00000183955	29489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious(0.04)	.	SETD8_HUMAN	SETD8	HGNC	.	.	UPI000002B371	SNV	SETD8,missense_variant,p.Leu172Arg,ENST00000437502,;SETD8,missense_variant,p.Leu181Arg,ENST00000330479,;SETD8,missense_variant,p.Leu181Arg,ENST00000402868,;SETD8,non_coding_transcript_exon_variant,,ENST00000478781,;SETD8,non_coding_transcript_exon_variant,,ENST00000485469,;SETD8,3_prime_UTR_variant,,ENST00000437519,;SETD8,non_coding_transcript_exon_variant,,ENST00000461103,;	968	42	32	SUCCESS
LOH12CR1	0	.	GRCh37	12	12514204	12514204	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	11	148	0	ENST00000314565.4:c.123C>T	p.Ser41=	p.S41=	ENST00000314565	NM_058169.3	41	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8649.1	123	MUTECT|MUSE|VARSCANS	.	GGCTCCCAGGC	NONE	.	.	hmmpanther:PTHR31634:SF1,hmmpanther:PTHR31634	.	.	ENSP00000321546	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000314565	Transcript	.	.	ENSG00000165714	17950	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	L12R1_HUMAN	LOH12CR1	HGNC	.	.	UPI000006E3BA	SNV	LOH12CR1,synonymous_variant,p.%3D,ENST00000314565,;LOH12CR1,synonymous_variant,p.%3D,ENST00000542728,;LOH12CR1,intron_variant,,ENST00000298571,;LOH12CR2,upstream_gene_variant,,ENST00000381800,;LOH12CR1,non_coding_transcript_exon_variant,,ENST00000543990,;	454	148	129	SUCCESS
KRT71	112802	.	GRCh37	12	52946794	52946794	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	49	0	ENST00000267119.5:c.68T>C	p.Val23Ala	p.V23A	ENST00000267119	NM_033448.2	23	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS8831.1	68	RADIA|MUTECT	.	AGAGCACAGCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000267119	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000267119	Transcript	.	.	ENSG00000139648	28927	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.97)	.	deleterious(0.04)	.	K2C71_HUMAN	KRT71	HGNC	.	.	UPI0000052B57	SNV	KRT71,missense_variant,p.Val23Ala,ENST00000267119,;	138	49	35	SUCCESS
GAS6	2621	.	GRCh37	13	114537552	114537552	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	77	0	ENST00000327773.6:c.806A>G	p.Lys269Arg	p.K269R	ENST00000327773	NM_000820.2	269	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS45072.1	806	MUTECT|MUSE|VARSCANS	.	ACAGCTTGAGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF21,hmmpanther:PTHR24035,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF49899	.	.	ENSP00000331831	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000327773	Transcript	.	.	ENSG00000183087	4168	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.991)	.	tolerated(0.12)	.	GAS6_HUMAN	GAS6	HGNC	B4DZY7_HUMAN	.	UPI0000073CCA	SNV	GAS6,missense_variant,p.Lys215Arg,ENST00000355761,;GAS6,missense_variant,p.Lys269Arg,ENST00000327773,;GAS6,missense_variant,p.Lys269Arg,ENST00000357389,;GAS6,5_prime_UTR_variant,,ENST00000450766,;GAS6,upstream_gene_variant,,ENST00000418959,;GAS6-AS1,splice_region_variant,,ENST00000458001,;GAS6,non_coding_transcript_exon_variant,,ENST00000610073,;GAS6,upstream_gene_variant,,ENST00000480426,;	953	77	38	SUCCESS
IGHV6-1	28385	.	GRCh37	14	106405819	106405819	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781784345	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	16	131	0	ENST00000390593.2:c.155A>G	p.Asn52Ser	p.N52S	ENST00000390593		52	aAc/aGc	0	.	.	.	.	.	C	N/S	IG_V_gene	YES	.	155	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTTGCTA	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266:SF86,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000375002	.	2/2	.	.	.	.	.	.	.	.	rs781784345	2/2	PASS	ENST00000390593	Transcript	.	.	ENSG00000211933	5662	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	.	IGHV6-1	HGNC	.	.	UPI0000113C49	SNV	IGHV6-1,missense_variant,p.Asn52Ser,ENST00000390593,;	207	131	116	SUCCESS
IGHV3-53	28420	.	GRCh37	14	107048775	107048775	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1555545015	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	9	206	0	ENST00000390627.2:c.245T>C	p.Val82Ala	p.V82A	ENST00000390627		82	gTg/gCg	0	.	.	.	.	.	G	V/A	IG_V_gene	YES	.	245	MUTECT|MUSE	.	CCTTCACGGAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375036	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390627	Transcript	.	.	ENSG00000211967	5610	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.213)	.	deleterious_low_confidence(0.02)	.	.	IGHV3-53	HGNC	.	.	UPI000011AAC7	SNV	IGHV3-53,missense_variant,p.Val82Ala,ENST00000390627,;	466	206	149	SUCCESS
ACOT1	641371	.	GRCh37	14	74009850	74009850	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753448518	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	236	26	260	1	ENST00000311148.4:c.757G>A	p.Val253Ile	p.V253I	ENST00000311148	NM_001037161.1	253	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32117.1	757	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGTCATC	NONE	byFrequency	.	hmmpanther:PTHR10824,hmmpanther:PTHR10824:SF5,Pfam_domain:PF08840,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF016521,Superfamily_domains:SSF53474	.	.	ENSP00000311224	.	3/3	.	.	.	.	.	.	.	.	rs753448518	3/3	PASS	ENST00000311148	Transcript	.	.	ENSG00000184227	33128	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.59)	.	ACOT1_HUMAN	ACOT1	HGNC	E9KL42_HUMAN	.	UPI000000CC4B	SNV	ACOT1,missense_variant,p.Val227Ile,ENST00000557556,;ACOT1,missense_variant,p.Val253Ile,ENST00000311148,;HEATR4,intron_variant,,ENST00000553558,;HEATR4,intron_variant,,ENST00000560393,;HEATR4,intron_variant,,ENST00000563329,;HEATR4,intron_variant,,ENST00000334988,;NT5CP2,upstream_gene_variant,,ENST00000553305,;	1065	262	262	SUCCESS
LRRK1	79705	.	GRCh37	15	101569225	101569225	+	synonymous_variant	Silent	SNP	G	G	A	rs1008792565	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	63	0	ENST00000388948.3:c.2751G>A	p.Arg917=	p.R917=	ENST00000388948	NM_024652.3	917	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS42086.1	2751	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGAACCT	NONE	.	.	.	.	.	ENSP00000373600	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,synonymous_variant,p.%3D,ENST00000388948,;LRRK1,synonymous_variant,p.%3D,ENST00000284395,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,downstream_gene_variant,,ENST00000525617,;LRRK1,downstream_gene_variant,,ENST00000538064,;	3110	63	58	SUCCESS
APBA2	321	.	GRCh37	15	29346940	29346940	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	26	0	ENST00000558259.1:c.853A>G	p.Asn285Asp	p.N285D	ENST00000558259	NM_005503.3	285	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS10022.1	853	MUTECT|MUSE	.	CGCTGAACCTC	NONE	.	.	hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12	.	.	ENSP00000453293	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000558402	Transcript	.	.	ENSG00000034053	579	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	deleterious_low_confidence(0.02)	.	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,missense_variant,p.Asn285Asp,ENST00000558259,;APBA2,missense_variant,p.Asn285Asp,ENST00000561069,;APBA2,missense_variant,p.Asn285Asp,ENST00000558402,;APBA2,missense_variant,p.Asn285Asp,ENST00000558330,;APBA2,missense_variant,p.Asn285Asp,ENST00000411764,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000558358,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	1452	26	28	SUCCESS
PPP1R14D	54866	.	GRCh37	15	41120819	41120819	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	79	0	ENST00000299174.5:c.21T>G	p.Ala7=	p.A7=	ENST00000299174	NM_017726.7	7	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS45230.1	21	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAAGCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16188:SF13,hmmpanther:PTHR16188	.	.	ENSP00000398342	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000427255	Transcript	.	.	ENSG00000166143	14953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PPP1R14D	HGNC	E9PAT1_HUMAN	.	UPI0000E59BD7	SNV	PPP1R14D,synonymous_variant,p.%3D,ENST00000427255,;PPP1R14D,synonymous_variant,p.%3D,ENST00000299174,;	89	79	66	SUCCESS
WHAMM	123720	.	GRCh37	15	83481941	83481941	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	29	238	0	ENST00000286760.4:c.696T>A	p.Val232=	p.V232=	ENST00000286760	NM_001080435.1	232	gtT/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45333.1	696	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTTACCGT	NONE	.	.	hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6	.	.	ENSP00000286760	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000286760	Transcript	.	.	ENSG00000156232	30493	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WHAMM_HUMAN	WHAMM	HGNC	.	.	UPI00001C1F94	SNV	WHAMM,synonymous_variant,p.%3D,ENST00000286760,;WHAMM,upstream_gene_variant,,ENST00000560964,;	795	238	178	SUCCESS
ACAN	176	.	GRCh37	15	89395101	89395101	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	20	168	0	ENST00000439576.2:c.2103C>A	p.Ile701=	p.I701=	ENST00000439576	NM_013227.3	701	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS53970.1	2103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCGTGAC	NONE	.	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Superfamily_domains:SSF56436	.	.	ENSP00000387356	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,synonymous_variant,p.%3D,ENST00000559004,;ACAN,synonymous_variant,p.%3D,ENST00000439576,;ACAN,synonymous_variant,p.%3D,ENST00000561243,;ACAN,synonymous_variant,p.%3D,ENST00000352105,;ACAN,downstream_gene_variant,,ENST00000558207,;	2477	168	117	SUCCESS
CCDC137	339230	.	GRCh37	17	79638802	79638802	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs781772780	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	91	0	ENST00000329214.8:c.526C>T	p.Arg176Ter	p.R176*	ENST00000329214	NM_199287.2	176	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS42400.1	526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCGACGG	NONE	.	.	hmmpanther:PTHR21838	.	.	ENSP00000329360	.	4/6	.	.	.	.	.	.	.	.	rs781772780	4/6	PASS	ENST00000329214	Transcript	.	.	ENSG00000185298	33451	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC137_HUMAN	CCDC137	HGNC	H6QX63_HUMAN	.	UPI00001983C7	SNV	CCDC137,stop_gained,p.Arg176Ter,ENST00000329214,;CCDC137,stop_gained,p.Arg185Ter,ENST00000574107,;AC139530.1,upstream_gene_variant,,ENST00000584812,;CCDC137,stop_gained,p.Arg176Ter,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;CCDC137,non_coding_transcript_exon_variant,,ENST00000572531,;CCDC137,downstream_gene_variant,,ENST00000574200,;	929	91	114	SUCCESS
PSMA8	143471	.	GRCh37	18	23772351	23772352	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs777177735	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	14	66	0	ENST00000308268.6:c.753dup	p.Ser252IlefsTer16	p.S252Ifs*16	ENST00000308268	NM_144662.2	249	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS32808.1	747-748	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAAGAAAAA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF47,Gene3D:3.60.20.10	.	.	ENSP00000311121	.	7/7	.	.	.	.	.	.	.	.	rs777177735	7/7	PASS	ENST00000308268	Transcript	.	.	ENSG00000154611	22985	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSA7L_HUMAN	PSMA8	HGNC	.	.	UPI000013ECFF	insertion	PSMA8,frameshift_variant,p.Ser252IlefsTer16,ENST00000308268,;PSMA8,frameshift_variant,p.Ser246IlefsTer16,ENST00000415576,;PSMA8,frameshift_variant,p.Ser208IlefsTer16,ENST00000343848,;PSMA8,3_prime_UTR_variant,,ENST00000538664,;	836-837	66	103	SUCCESS
NOTCH3	4854	.	GRCh37	19	15288466	15288466	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772738353	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	14	0	ENST00000263388.2:c.4273T>C	p.Trp1425Arg	p.W1425R	ENST00000263388	NM_000435.2	1425	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS12326.1	4273	MUTECT|MUSE	.	CCGCCAGGGGT	NONE	.	.	SMART_domains:SM00004,PIRSF_domain:PIRSF002279,Pfam_domain:PF00066,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50258	.	.	ENSP00000263388	.	24/33	.	.	.	.	.	.	.	.	rs772738353	24/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Trp1425Arg,ENST00000263388,;NOTCH3,downstream_gene_variant,,ENST00000601011,;NOTCH3,downstream_gene_variant,,ENST00000600841,;NOTCH3,downstream_gene_variant,,ENST00000595045,;	4349	14	13	SUCCESS
TMEM150B	284417	.	GRCh37	19	55824349	55824349	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1033483663	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	88	0	ENST00000326652.4:c.580G>A	p.Ala194Thr	p.A194T	ENST00000326652	NM_001282011.1	194	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42629.1	580	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCGAACA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3,Pfam_domain:PF10277	.	.	ENSP00000320757	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000326652	Transcript	.	.	ENSG00000180061	34415	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.51)	.	T150B_HUMAN	TMEM150B	HGNC	K7EM00_HUMAN,K7EKL2_HUMAN	.	UPI00001AF4D4	SNV	TMEM150B,missense_variant,p.Ala149Thr,ENST00000585918,;TMEM150B,missense_variant,p.Ala194Thr,ENST00000438693,;TMEM150B,missense_variant,p.Ala194Thr,ENST00000326652,;BRSK1,downstream_gene_variant,,ENST00000309383,;BRSK1,downstream_gene_variant,,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000591570,;CTD-2105E13.14,upstream_gene_variant,,ENST00000596786,;TMEM150B,3_prime_UTR_variant,,ENST00000592731,;TMEM150B,3_prime_UTR_variant,,ENST00000586609,;TMEM150B,3_prime_UTR_variant,,ENST00000592603,;	763	88	78	SUCCESS
C19orf45	0	.	GRCh37	19	7570453	7570453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	50	0	ENST00000361664.2:c.946G>A	p.Gly316Arg	p.G316R	ENST00000361664	NM_198534.2	316	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS12179.2	946	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGGAAAT	NONE	.	.	Pfam_domain:PF15373	.	.	ENSP00000355241	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000361664	Transcript	.	.	ENSG00000198723	24745	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	CS045_HUMAN	C19orf45	HGNC	M0R096_HUMAN,M0QYK1_HUMAN,M0QY34_HUMAN	.	UPI00001D83AB	SNV	C19orf45,missense_variant,p.Gly316Arg,ENST00000361664,;C19orf45,downstream_gene_variant,,ENST00000596132,;CTD-2207O23.12,upstream_gene_variant,,ENST00000599312,;C19orf45,downstream_gene_variant,,ENST00000597207,;C19orf45,downstream_gene_variant,,ENST00000601176,;C19orf45,3_prime_UTR_variant,,ENST00000596524,;C19orf45,non_coding_transcript_exon_variant,,ENST00000600112,;C19orf45,upstream_gene_variant,,ENST00000601292,;CTD-2207O23.12,upstream_gene_variant,,ENST00000597384,;	1087	50	40	SUCCESS
SMG7	9887	.	GRCh37	1	183486833	183486833	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs924147141	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	6	97	0	ENST00000347615.2:c.190G>A	p.Ala64Thr	p.A64T	ENST00000347615	NM_173156.2	64	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS41445.2	190	MUTECT|MUSE	.	ATCACGCCTTT	NONE	.	.	hmmpanther:PTHR15696:SF0,hmmpanther:PTHR15696,Pfam_domain:PF10374,Superfamily_domains:SSF48452	.	.	ENSP00000425133	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0.04)	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,missense_variant,p.Ala22Thr,ENST00000419169,;SMG7,missense_variant,p.Ala93Thr,ENST00000367537,;SMG7,missense_variant,p.Ala64Thr,ENST00000507469,;SMG7,missense_variant,p.Ala64Thr,ENST00000347615,;SMG7,missense_variant,p.Ala22Thr,ENST00000456731,;SMG7,missense_variant,p.Ala22Thr,ENST00000508461,;SMG7,missense_variant,p.Ala64Thr,ENST00000515829,;SMG7,3_prime_UTR_variant,,ENST00000507691,;SMG7,downstream_gene_variant,,ENST00000502375,;SMG7,upstream_gene_variant,,ENST00000507406,;SMG7,missense_variant,p.Ala64Thr,ENST00000440812,;SMG7,3_prime_UTR_variant,,ENST00000444547,;SMG7,downstream_gene_variant,,ENST00000367538,;SMG7,downstream_gene_variant,,ENST00000493609,;	308	97	83	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204413483	204413483	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	83	0	ENST00000367187.3:c.2748A>G	p.Leu916=	p.L916=	ENST00000367187	NM_002646.3	916	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1446.1	2748	MUTECT|MUSE	.	TAGTCTAGCAG	NONE	.	.	PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF30,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	.	.	ENSP00000356155	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,synonymous_variant,p.%3D,ENST00000367187,;PIK3C2B,synonymous_variant,p.%3D,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000479079,;	3305	83	67	SUCCESS
RUNX3	864	.	GRCh37	1	25229111	25229111	+	synonymous_variant	Silent	SNP	G	G	A	rs1459416077	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	16	135	0	ENST00000308873.6:c.750C>T	p.Arg250=	p.R250=	ENST00000308873	NM_004350.2	250	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS30633.1	792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGCGGTC	NONE	.	.	PIRSF_domain:PIRSF009374,Gene3D:1b8xA03,hmmpanther:PTHR11950	.	.	ENSP00000382800	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000399916	Transcript	.	.	ENSG00000020633	10473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUNX3_HUMAN	RUNX3	HGNC	.	.	UPI000002B2FF	SNV	RUNX3,synonymous_variant,p.%3D,ENST00000540420,;RUNX3,synonymous_variant,p.%3D,ENST00000308873,;RUNX3,synonymous_variant,p.%3D,ENST00000338888,;RUNX3,synonymous_variant,p.%3D,ENST00000399916,;RUNX3,non_coding_transcript_exon_variant,,ENST00000496967,;	1231	135	96	SUCCESS
ARID1A	8289	.	GRCh37	1	27106176	27106176	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs746078309	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	100	0	ENST00000324856.7:c.5788del	p.Ser1930GlnfsTer26	p.S1930Qfs*26	ENST00000324856	NM_006015.4	1929	agT/ag	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS285.1	5787	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAGAGTTCAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	rs746078309,COSM3747843	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	1	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	deletion	ARID1A,frameshift_variant,p.Ser1713GlnfsTer26,ENST00000457599,;ARID1A,frameshift_variant,p.Ser1547GlnfsTer26,ENST00000374152,;ARID1A,frameshift_variant,p.Ser827GlnfsTer26,ENST00000430799,;ARID1A,frameshift_variant,p.Ser258GlnfsTer26,ENST00000540690,;ARID1A,frameshift_variant,p.Ser1930GlnfsTer26,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6158	100	100	SUCCESS
PHACTR4	65979	.	GRCh37	1	28802769	28802769	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	359	13	333	0	ENST00000373839.3:c.1572C>G	p.Tyr524Ter	p.Y524*	ENST00000373839	NM_001048183.1	524	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS41294.1	1602	MUTECT|MUSE	.	CAGTACCGAGA	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4	.	.	ENSP00000362942	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000373836	Transcript	.	.	ENSG00000204138	25793	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHAR4_HUMAN	PHACTR4	HGNC	.	.	UPI0000374EB3	SNV	PHACTR4,stop_gained,p.Tyr534Ter,ENST00000373836,;PHACTR4,stop_gained,p.Tyr524Ter,ENST00000373839,;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;	1816	333	372	SUCCESS
RNF11	26994	.	GRCh37	1	51736890	51736890	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	47	0	ENST00000242719.3:c.361T>C	p.Tyr121His	p.Y121H	ENST00000242719	NM_014372.4	121	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS556.1	361	RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTATCAC	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR22764,hmmpanther:PTHR22764:SF54,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000242719	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000242719	Transcript	.	.	ENSG00000123091	10056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	RNF11_HUMAN	RNF11	HGNC	.	.	UPI000000DC27	SNV	RNF11,missense_variant,p.Tyr121His,ENST00000242719,;RNF11,non_coding_transcript_exon_variant,,ENST00000494873,;RNF11,non_coding_transcript_exon_variant,,ENST00000486691,;	847	47	57	SUCCESS
ZNF133	7692	.	GRCh37	20	18296766	18296766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	51	0	ENST00000316358.4:c.1271C>A	p.Thr424Asn	p.T424N	ENST00000316358	NM_001283008.1	424	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS13134.1	1268	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACCCTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF119,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000366899	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377671	Transcript	.	.	ENSG00000125846	12917	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.881)	.	tolerated(0.79)	.	ZN133_HUMAN	ZNF133	HGNC	F5H289_HUMAN	.	UPI00001AE6ED	SNV	ZNF133,missense_variant,p.Thr329Asn,ENST00000535822,;ZNF133,missense_variant,p.Thr423Asn,ENST00000377671,;ZNF133,missense_variant,p.Thr424Asn,ENST00000316358,;ZNF133,missense_variant,p.Thr424Asn,ENST00000401790,;ZNF133,missense_variant,p.Thr427Asn,ENST00000396026,;ZNF133,missense_variant,p.Thr361Asn,ENST00000402618,;ZNF133,missense_variant,p.Thr329Asn,ENST00000538547,;ZNF133,downstream_gene_variant,,ENST00000360010,;ZNF133,downstream_gene_variant,,ENST00000425686,;ZNF133,downstream_gene_variant,,ENST00000434018,;RP4-568F9.3,upstream_gene_variant,,ENST00000436848,;ZNF133,non_coding_transcript_exon_variant,,ENST00000462170,;	1827	51	41	SUCCESS
ERG	2078	.	GRCh37	21	39755511	39755511	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	95	0	ENST00000288319.7:c.1254G>A	p.Met418Ile	p.M418I	ENST00000288319	NM_182918.3	418	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS46648.1	1275	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCATGTA	NONE	.	.	hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849,Superfamily_domains:SSF46785	.	.	ENSP00000414150	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000417133	Transcript	.	.	ENSG00000157554	3446	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.06)	.	ERG_HUMAN	ERG	HGNC	Q16031_HUMAN,B4DVX5_HUMAN	.	UPI000018681C	SNV	ERG,missense_variant,p.Met302Ile,ENST00000398897,;ERG,missense_variant,p.Met326Ile,ENST00000453032,;ERG,missense_variant,p.Met402Ile,ENST00000398910,;ERG,missense_variant,p.Met418Ile,ENST00000288319,;ERG,missense_variant,p.Met401Ile,ENST00000442448,;ERG,missense_variant,p.Met425Ile,ENST00000398919,;ERG,missense_variant,p.Met394Ile,ENST00000398905,;ERG,missense_variant,p.Met425Ile,ENST00000417133,;ERG,missense_variant,p.Met401Ile,ENST00000398911,;ERG,missense_variant,p.Met395Ile,ENST00000398907,;	1461	95	76	SUCCESS
BACE2	25825	.	GRCh37	21	42551377	42551377	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	60	0	ENST00000330333.6:c.312+10875A>C		p.*104*	ENST00000330333	NM_012105.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13668.1	.	MUTECT|VARSCANS	.	GGGTGAGTGAG	NONE	.	.	.	.	.	ENSP00000332979	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330333	Transcript	.	.	ENSG00000182240	934	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BACE2_HUMAN	BACE2	HGNC	.	.	UPI00000396BC	SNV	BACE2,intron_variant,,ENST00000328735,;BACE2,intron_variant,,ENST00000347667,;BACE2,intron_variant,,ENST00000330333,;PLAC4,non_coding_transcript_exon_variant,,ENST00000536486,;PLAC4,intron_variant,,ENST00000430327,;PLAC4,intron_variant,,ENST00000440221,;BACE2-IT1,upstream_gene_variant,,ENST00000433378,;PLAC4,downstream_gene_variant,,ENST00000414699,;	.	60	47	SUCCESS
RTN4R	65078	.	GRCh37	22	20229527	20229527	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748655075	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	22	0	ENST00000043402.7:c.1129C>T	p.Arg377Trp	p.R377W	ENST00000043402	NM_023004.5	377	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS13777.1	1129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCGTGGGC	NONE	byFrequency	.	.	.	.	ENSP00000043402	.	2/2	.	.	.	.	.	.	.	.	rs748655075,CM086907	2/2	PASS	ENST00000043402	Transcript	.	.	ENSG00000040608	18601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.973)	.	deleterious(0)	.	RTN4R_HUMAN	RTN4R	HGNC	.	.	UPI0000034D62	SNV	RTN4R,missense_variant,p.Arg377Trp,ENST00000043402,;RTN4R,missense_variant,p.Arg397Trp,ENST00000416372,;RTN4R,missense_variant,p.Arg463Trp,ENST00000425986,;RTN4R,downstream_gene_variant,,ENST00000463936,;RTN4R,downstream_gene_variant,,ENST00000469601,;RTN4R,downstream_gene_variant,,ENST00000474642,;	1568	22	30	SUCCESS
THOC5	8563	.	GRCh37	22	29907254	29907254	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	50	0	ENST00000397871.1:c.1829A>T	p.Lys610Met	p.K610M	ENST00000397871	NM_001002879.1	610	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS13859.1	1829	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTTGTAG	NONE	.	.	hmmpanther:PTHR13375,hmmpanther:PTHR13375:SF3	.	.	ENSP00000420306	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000490103	Transcript	.	.	ENSG00000100296	19074	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.781)	.	tolerated(0.08)	.	THOC5_HUMAN	THOC5	HGNC	C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN	.	UPI000013FD77	SNV	THOC5,missense_variant,p.Lys610Met,ENST00000490103,;THOC5,missense_variant,p.Lys610Met,ENST00000397871,;THOC5,missense_variant,p.Lys610Met,ENST00000397873,;THOC5,missense_variant,p.Lys610Met,ENST00000397872,;CTA-256D12.11,downstream_gene_variant,,ENST00000411969,;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,non_coding_transcript_exon_variant,,ENST00000472164,;	1952	50	53	SUCCESS
MYH9	4627	.	GRCh37	22	36700184	36700184	+	synonymous_variant	Silent	SNP	G	G	T	rs749206328	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	109	0	ENST00000216181.5:c.2247C>A	p.Leu749=	p.L749=	ENST00000216181	NM_002473.4	749	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13927.1	2247	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGAGCTC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000216181	.	19/41	.	.	.	.	.	.	.	.	rs749206328	19/41	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,synonymous_variant,p.%3D,ENST00000216181,;MYH9,upstream_gene_variant,,ENST00000495928,;MYH9,upstream_gene_variant,,ENST00000473022,;	2478	109	96	SUCCESS
DDX17	10521	.	GRCh37	22	38882316	38882316	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763729177	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	85	0	ENST00000403230.1:c.1814G>C	p.Arg605Pro	p.R605P	ENST00000403230		605	cGt/cCt	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS46706.1	1820	MUTECT|MUSE	.	CACTACGATCC	NONE	byFrequency	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF219	.	.	ENSP00000380033	.	13/13	.	.	.	.	.	.	.	.	rs763729177	13/13	PASS	ENST00000396821	Transcript	.	.	ENSG00000100201	2740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.525)	.	deleterious_low_confidence(0.01)	.	.	DDX17	HGNC	Q9UQL5_HUMAN,H3BLZ8_HUMAN	.	UPI0001AE634C	SNV	DDX17,missense_variant,p.Arg57Pro,ENST00000444597,;DDX17,missense_variant,p.Arg605Pro,ENST00000403230,;DDX17,missense_variant,p.Arg607Pro,ENST00000396821,;DDX17,missense_variant,p.Arg528Pro,ENST00000381633,;KDELR3,downstream_gene_variant,,ENST00000216014,;KDELR3,downstream_gene_variant,,ENST00000409006,;DDX17,downstream_gene_variant,,ENST00000432525,;KDELR3,downstream_gene_variant,,ENST00000471268,;DDX17,downstream_gene_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000431312,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;	1920	85	93	SUCCESS
NFE2L2	4780	.	GRCh37	2	178097414	178097414	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	15	0	ENST00000397062.3:c.403-103C>G		p.*135*	ENST00000397062	NM_006164.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42782.1	.	RADIA|MUTECT|MUSE	.	TCTGTGTCTCT	NONE	.	.	.	.	.	ENSP00000380252	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397062	Transcript	.	.	ENSG00000116044	7782	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NF2L2_HUMAN	NFE2L2	HGNC	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN	.	UPI000012FFD0	SNV	NFE2L2,3_prime_UTR_variant,,ENST00000423513,;NFE2L2,intron_variant,,ENST00000449627,;NFE2L2,intron_variant,,ENST00000397062,;NFE2L2,intron_variant,,ENST00000446151,;NFE2L2,intron_variant,,ENST00000588123,;NFE2L2,intron_variant,,ENST00000586532,;NFE2L2,intron_variant,,ENST00000421929,;NFE2L2,intron_variant,,ENST00000464747,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,intron_variant,,ENST00000448782,;NFE2L2,intron_variant,,ENST00000397063,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,downstream_gene_variant,,ENST00000462023,;NFE2L2,downstream_gene_variant,,ENST00000477534,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;	.	15	20	SUCCESS
TTN	7273	.	GRCh37	2	179614477	179614477	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	7	123	0	ENST00000591111.1:c.10360+3374A>T		p.*3454*	ENST00000591111				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59435.1	.	MUTECT|MUSE	.	TAATATATAAT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr4217Phe,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	123	134	SUCCESS
TTN	7273	.	GRCh37	2	179614478	179614478	+	intron_variant	Intron	SNP	A	A	C	.	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	7	126	0	ENST00000591111.1:c.10360+3373T>G		p.*3454*	ENST00000591111				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59435.1	.	MUTECT|MUSE	.	AATATATAATT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	COSM3938798	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Tyr4217Asp,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	126	132	SUCCESS
DNAH7	56171	.	GRCh37	2	196891538	196891538	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	7	78	0	ENST00000312428.6:c.613A>G	p.Thr205Ala	p.T205A	ENST00000312428	NM_018897.2	205	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS42794.1	613	MUTECT|MUSE	.	TAATGTAACTA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	7/65	.	.	.	.	.	.	.	.	.	7/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.72)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Thr205Ala,ENST00000410072,;DNAH7,missense_variant,p.Thr205Ala,ENST00000312428,;DNAH7,downstream_gene_variant,,ENST00000427816,;	714	79	98	SUCCESS
CHPF	79586	.	GRCh37	2	220406323	220406323	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	14	130	1	ENST00000243776.6:c.888+15T>A		p.*296*	ENST00000243776	NM_024536.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2443.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGATAGCTTA	NONE	.	.	.	.	.	ENSP00000243776	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,3_prime_UTR_variant,,ENST00000373891,;CHPF,intron_variant,,ENST00000243776,;CHPF,intron_variant,,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	.	131	122	SUCCESS
RHBDD1	84236	.	GRCh37	2	227729638	227729638	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	9	116	0	ENST00000341329.3:c.229G>A	p.Asp77Asn	p.D77N	ENST00000341329	NM_032276.3	77	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2464.1	229	MUTECT|MUSE|VARSCANS	.	ATGCTGATGAT	NONE	.	.	hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF7,Pfam_domain:PF01694,Gene3D:2xovA00,Superfamily_domains:SSF144091	.	.	ENSP00000375914	.	4/9	.	.	.	.	.	.	.	.	COSM233263	4/9	PASS	ENST00000392062	Transcript	.	.	ENSG00000144468	23081	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.558)	.	tolerated(0.06)	1	RHBL4_HUMAN	RHBDD1	HGNC	C9K011_HUMAN,C9JQK8_HUMAN,C9JAS2_HUMAN,C9J4C7_HUMAN,C9J1R4_HUMAN	.	UPI0000047AE4	SNV	RHBDD1,missense_variant,p.Asp77Asn,ENST00000423616,;RHBDD1,missense_variant,p.Asp77Asn,ENST00000448992,;RHBDD1,missense_variant,p.Asp77Asn,ENST00000341329,;RHBDD1,missense_variant,p.Asp77Asn,ENST00000424132,;RHBDD1,missense_variant,p.Asp77Asn,ENST00000392062,;RHBDD1,downstream_gene_variant,,ENST00000437454,;RHBDD1,downstream_gene_variant,,ENST00000443477,;RHBDD1,downstream_gene_variant,,ENST00000436481,;	753	116	90	SUCCESS
DGKD	8527	.	GRCh37	2	234299114	234299114	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	6	80	0	ENST00000264057.2:c.333C>A	p.Val111=	p.V111=	ENST00000264057	NM_152879.2	111	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2504.1	333	MUTECT|MUSE	.	AACGTCAACAA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000264057	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,synonymous_variant,p.%3D,ENST00000447484,;DGKD,synonymous_variant,p.%3D,ENST00000264057,;DGKD,synonymous_variant,p.%3D,ENST00000409813,;DGKD,intron_variant,,ENST00000427930,;AC019221.4,non_coding_transcript_exon_variant,,ENST00000442524,;DGKD,downstream_gene_variant,,ENST00000489613,;	345	80	80	SUCCESS
ST3GAL5	8869	.	GRCh37	2	86075256	86075256	+	synonymous_variant	Silent	SNP	C	C	T	rs144270260	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	23	148	0	ENST00000377332.3:c.390G>A	p.Ala130=	p.A130=	ENST00000377332	NM_003896.3	130	gcG/gcA	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS1986.2	390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGCGCCAT	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF005557,hmmpanther:PTHR13713:SF5,hmmpanther:PTHR13713	.	T:0.0007	ENSP00000366549	.	4/7	.	.	.	.	.	.	.	.	rs144270260	4/7	common_in_exac	ENST00000377332	Transcript	.	.	ENSG00000115525	10872	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAT9_HUMAN	ST3GAL5	HGNC	C9JYS9_HUMAN	.	UPI000015F319	SNV	ST3GAL5,synonymous_variant,p.%3D,ENST00000393805,;ST3GAL5,synonymous_variant,p.%3D,ENST00000455892,;ST3GAL5,synonymous_variant,p.%3D,ENST00000377332,;ST3GAL5,synonymous_variant,p.%3D,ENST00000393808,;ST3GAL5,downstream_gene_variant,,ENST00000525834,;ST3GAL5,downstream_gene_variant,,ENST00000473122,;ST3GAL5,downstream_gene_variant,,ENST00000461199,;ST3GAL5,downstream_gene_variant,,ENST00000487896,;ST3GAL5,downstream_gene_variant,,ENST00000461892,;ST3GAL5,3_prime_UTR_variant,,ENST00000306262,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461206,;ST3GAL5,downstream_gene_variant,,ENST00000433665,;	499	148	121	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111785346	111785346	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	17	88	0	ENST00000452346.2:c.1663C>T	p.Gln555Ter	p.Q555*	ENST00000452346		555	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS43129.2	1285	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCAAAGT	NONE	.	.	hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,Gene3D:1n7dA02,SMART_domains:SM00192	.	.	ENSP00000411645	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,stop_gained,p.Gln555Ter,ENST00000452346,;TMPRSS7,stop_gained,p.Gln429Ter,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	1367	88	131	SUCCESS
CHCHD4	131474	.	GRCh37	3	14158003	14158003	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1559356610	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	101	0	ENST00000396914.3:c.44T>C	p.Val15Ala	p.V15A	ENST00000396914	NM_001098502.1	15	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS2617.1	83	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTACAAAT	NONE	.	.	hmmpanther:PTHR21622:SF3,hmmpanther:PTHR21622	.	.	ENSP00000295767	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000295767	Transcript	.	.	ENSG00000163528	26467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.26)	.	MIA40_HUMAN	CHCHD4	HGNC	.	.	UPI000007370C	SNV	CHCHD4,missense_variant,p.Val28Ala,ENST00000295767,;CHCHD4,missense_variant,p.Val15Ala,ENST00000396914,;CHCHD4,3_prime_UTR_variant,,ENST00000420103,;	408	101	70	SUCCESS
CCDC50	152137	.	GRCh37	3	191107379	191107379	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	10	138	0	ENST00000392455.3:c.889T>G	p.Ser297Ala	p.S297A	ENST00000392455	NM_174908.3	297	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS33912.1	1417	MUTECT|MUSE	.	CAGAGTCCTCT	NONE	.	.	hmmpanther:PTHR22115:SF1,hmmpanther:PTHR22115	.	.	ENSP00000376250	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000392456	Transcript	.	.	ENSG00000152492	18111	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.089)	.	tolerated(0.29)	.	CCD50_HUMAN	CCDC50	HGNC	.	.	UPI000018F5EF	SNV	CCDC50,missense_variant,p.Ser473Ala,ENST00000392456,;CCDC50,missense_variant,p.Ser297Ala,ENST00000392455,;	2007	138	159	SUCCESS
FYCO1	79443	.	GRCh37	3	46008641	46008641	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	46	0	ENST00000296137.2:c.2185G>T	p.Glu729Ter	p.E729*	ENST00000296137	NM_024513.3	729	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS2734.1	2185	MUTECT|MUSE|VARSCANS	.	AAGCTCTCTGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851	.	.	ENSP00000296137	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,stop_gained,p.Glu729Ter,ENST00000296137,;FYCO1,stop_gained,p.Glu729Ter,ENST00000535325,;	2391	46	43	SUCCESS
LRIG1	26018	.	GRCh37	3	66431944	66431944	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201954431	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	88	0	ENST00000273261.3:c.2729C>T	p.Ala910Val	p.A910V	ENST00000273261	NM_015541.2	910	gCg/gTg	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS33783.1	2729	MUTECT|MUSE	.	CCATCGCTTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367	.	A:0	ENSP00000273261	.	17/19	.	.	.	.	.	.	.	.	rs201954431	17/19	PASS	ENST00000273261	Transcript	.	.	ENSG00000144749	17360	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.89)	.	LRIG1_HUMAN	LRIG1	HGNC	.	.	UPI000004C5BE	SNV	LRIG1,missense_variant,p.Ala887Val,ENST00000383703,;LRIG1,missense_variant,p.Ala910Val,ENST00000273261,;SLC25A26,intron_variant,,ENST00000536651,;SLC25A26,downstream_gene_variant,,ENST00000354883,;SLC25A26,downstream_gene_variant,,ENST00000413054,;SLC25A26,downstream_gene_variant,,ENST00000336733,;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,intron_variant,,ENST00000464350,;SLC25A26,downstream_gene_variant,,ENST00000483224,;	3254	88	81	SUCCESS
GLRA3	8001	.	GRCh37	4	175564944	175564944	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1260056462	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	11	71	0	ENST00000274093.3:c.1388A>C	p.Gln463Pro	p.Q463P	ENST00000274093	NM_006529.2	463	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS3822.1	1388	RADIA|MUTECT|MUSE|VARSCANS	.	AATCTTGCTGC	NONE	.	.	.	.	.	ENSP00000274093	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000274093	Transcript	.	.	ENSG00000145451	4328	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	deleterious_low_confidence(0.03)	.	GLRA3_HUMAN	GLRA3	HGNC	Q9UPF3_HUMAN,Q4W595_HUMAN	.	UPI0000001C50	SNV	GLRA3,missense_variant,p.Gln463Pro,ENST00000274093,;GLRA3,missense_variant,p.Gln448Pro,ENST00000340217,;	1891	71	94	SUCCESS
DNAH5	1767	.	GRCh37	5	13776635	13776635	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs868444911	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	21	211	0	ENST00000265104.4:c.9286C>T	p.Arg3096Ter	p.R3096*	ENST00000265104	NM_001369.2	3096	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS3882.1	9286	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGAAATT	CODON|p.R3096Q|c.9287G>A|5	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	55/79	.	.	.	.	.	.	.	.	COSM1250372	55/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,stop_gained,p.Arg3096Ter,ENST00000265104,;	9391	211	222	SUCCESS
ADRB2	154	.	GRCh37	5	148206993	148206993	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	52	0	ENST00000305988.4:c.599C>T	p.Ala200Val	p.A200V	ENST00000305988	NM_000024.5	200	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4292.1	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGCCATTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF21,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000305372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305988	Transcript	1	.	ENSG00000169252	286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	ADRB2_HUMAN	ADRB2	HGNC	Q9BYZ0_HUMAN	.	UPI000013EAD0	SNV	ADRB2,missense_variant,p.Ala200Val,ENST00000305988,;	838	52	52	SUCCESS
OXCT1	5019	.	GRCh37	5	41794272	41794272	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	102	0	ENST00000196371.5:c.1173-92G>T		p.*391*	ENST00000196371	NM_000436.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3937.1	.	MUTECT|MUSE	.	ACCACCAAAAT	NONE	.	.	.	.	.	ENSP00000196371	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000196371	Transcript	1	.	ENSG00000083720	8527	.	.	MODIFIER	12/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCOT1_HUMAN	OXCT1	HGNC	B7Z528_HUMAN,A1E286_HUMAN	.	UPI0000000C9A	SNV	OXCT1,5_prime_UTR_variant,,ENST00000512084,;OXCT1,intron_variant,,ENST00000509987,;OXCT1,intron_variant,,ENST00000196371,;OXCT1,intron_variant,,ENST00000510634,;OXCT1,intron_variant,,ENST00000514723,;OXCT1,intron_variant,,ENST00000513081,;OXCT1,upstream_gene_variant,,ENST00000508557,;	.	102	68	SUCCESS
ZNF366	167465	.	GRCh37	5	71756473	71756473	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773571362	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	55	0	ENST00000318442.5:c.851C>T	p.Thr284Met	p.T284M	ENST00000318442	NM_152625.1	284	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS4015.1	851	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGTGCAC	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390:SF38,hmmpanther:PTHR24390,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000313158	.	2/5	.	.	.	.	.	.	.	.	rs773571362,COSM1069879	2/5	PASS	ENST00000318442	Transcript	.	.	ENSG00000178175	18316	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.687)	.	tolerated(0.11)	0,1	ZN366_HUMAN	ZNF366	HGNC	F8W732_HUMAN	.	UPI000013C368	SNV	ZNF366,missense_variant,p.Thr284Met,ENST00000318442,;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,downstream_gene_variant,,ENST00000514477,;	1342	55	53	SUCCESS
IQGAP2	10788	.	GRCh37	5	75906955	75906955	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	99	0	ENST00000274364.6:c.1468C>T	p.His490Tyr	p.H490Y	ENST00000274364	NM_006633.2	490	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS34188.1	1468	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCATGCC	NONE	.	.	hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12	.	.	ENSP00000274364	.	13/36	.	.	.	.	.	.	.	.	.	13/36	PASS	ENST00000274364	Transcript	.	.	ENSG00000145703	6111	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	IQGA2_HUMAN	IQGAP2	HGNC	E7EWC2_HUMAN,D6R939_HUMAN	.	UPI000020CB2C	SNV	IQGAP2,missense_variant,p.His440Tyr,ENST00000505766,;IQGAP2,missense_variant,p.His490Tyr,ENST00000274364,;IQGAP2,missense_variant,p.His43Tyr,ENST00000509074,;IQGAP2,missense_variant,p.His463Tyr,ENST00000514350,;IQGAP2,missense_variant,p.His43Tyr,ENST00000514001,;IQGAP2,missense_variant,p.His43Tyr,ENST00000502745,;IQGAP2,missense_variant,p.His43Tyr,ENST00000396234,;IQGAP2,missense_variant,p.His49Tyr,ENST00000379730,;F2RL2,downstream_gene_variant,,ENST00000296641,;CTD-2236F14.1,upstream_gene_variant,,ENST00000511327,;IQGAP2,intron_variant,,ENST00000515505,;IQGAP2,missense_variant,p.His43Tyr,ENST00000513534,;IQGAP2,missense_variant,p.His43Tyr,ENST00000504254,;	1765	99	65	SUCCESS
DCBLD1	285761	.	GRCh37	6	117869356	117869356	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	9	74	0	ENST00000338728.5:c.1902C>T	p.Leu634=	p.L634=	ENST00000338728		634	ctC/ctT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34522.1	.	MUTECT|MUSE|VARSCANS	.	TCCCTCTCCTC	NONE	.	.	.	.	.	ENSP00000296955	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296955	Transcript	.	.	ENSG00000164465	21479	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCBD1_HUMAN	DCBLD1	HGNC	Q68DD5_HUMAN	.	UPI0000039E3E	SNV	DCBLD1,synonymous_variant,p.%3D,ENST00000338728,;DCBLD1,synonymous_variant,p.%3D,ENST00000368503,;DCBLD1,intron_variant,,ENST00000296955,;GOPC,intron_variant,,ENST00000467125,;DCBLD1,downstream_gene_variant,,ENST00000534777,;DCBLD1,downstream_gene_variant,,ENST00000487076,;DCBLD1,downstream_gene_variant,,ENST00000478345,;DCBLD1,intron_variant,,ENST00000533453,;DCBLD1,downstream_gene_variant,,ENST00000424717,;	.	74	114	SUCCESS
TAAR2	9287	.	GRCh37	6	132938785	132938785	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	117	0	ENST00000367931.1:c.560G>T	p.Gly187Val	p.G187V	ENST00000367931		187	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS34541.1	560	RADIA|MUTECT|MUSE|VARSCANS	.	CTATTCCATCT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24249:SF30,hmmpanther:PTHR24249,PROSITE_profiles:PS50262	.	.	ENSP00000356908	.	2/2	.	.	.	.	.	.	.	.	COSM139672	2/2	PASS	ENST00000367931	Transcript	.	.	ENSG00000146378	4514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	TAAR2_HUMAN	TAAR2	HGNC	.	.	UPI000048F3E6	SNV	TAAR2,missense_variant,p.Gly142Val,ENST00000537809,;TAAR2,missense_variant,p.Gly187Val,ENST00000367931,;TAAR2,missense_variant,p.Gly142Val,ENST00000275191,;	560	117	89	SUCCESS
ZC3H12D	340152	.	GRCh37	6	149771968	149771968	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1303005641	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	20	0	ENST00000409806.3:c.1435G>A	p.Ala479Thr	p.A479T	ENST00000409806		479	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	.	1435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCGCGCG	NONE	.	.	hmmpanther:PTHR12876:SF11,hmmpanther:PTHR12876	.	.	ENSP00000386616	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000409806	Transcript	.	.	ENSG00000178199	21175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.17)	.	ZC12D_HUMAN	ZC3H12D	HGNC	.	.	UPI00002377F7	SNV	ZC3H12D,missense_variant,p.Ala479Thr,ENST00000409806,;ZC3H12D,missense_variant,p.Ala479Thr,ENST00000389942,;ZC3H12D,3_prime_UTR_variant,,ENST00000416573,;ZC3H12D,downstream_gene_variant,,ENST00000542614,;ZC3H12D,downstream_gene_variant,,ENST00000458251,;ZC3H12D,upstream_gene_variant,,ENST00000498662,;	1754	20	26	SUCCESS
ZBTB2	57621	.	GRCh37	6	151687673	151687673	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	85	0	ENST00000325144.4:c.528G>T	p.Gln176His	p.Q176H	ENST00000325144	NM_020861.1	176	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5231.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGCTGTGA	NONE	.	.	hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0	.	.	ENSP00000323183	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.13)	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,missense_variant,p.Gln176His,ENST00000325144,;	669	85	74	SUCCESS
FAM65B	0	.	GRCh37	6	24843221	24843221	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769663089	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	98	1	ENST00000259698.4:c.1789A>G	p.Arg597Gly	p.R597G	ENST00000259698	NM_014722.2	597	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS47383.1	1789	MUTECT|MUSE	.	GGATCTGCAGC	NONE	byFrequency	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2	.	.	ENSP00000259698	.	14/23	.	.	.	.	.	.	.	.	rs769663089	14/23	PASS	ENST00000259698	Transcript	.	.	ENSG00000111913	13872	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.627)	.	tolerated(0.14)	.	FA65B_HUMAN	FAM65B	HGNC	H3BP45_HUMAN	.	UPI0000EE554D	SNV	FAM65B,missense_variant,p.Arg576Gly,ENST00000538035,;FAM65B,missense_variant,p.Arg547Gly,ENST00000378023,;FAM65B,missense_variant,p.Arg547Gly,ENST00000540914,;FAM65B,missense_variant,p.Arg597Gly,ENST00000259698,;FAM65B,missense_variant,p.Arg581Gly,ENST00000510784,;AL512428.1,upstream_gene_variant,,ENST00000583229,;FAM65B,non_coding_transcript_exon_variant,,ENST00000473070,;	1965	99	105	SUCCESS
ZNF311	282890	.	GRCh37	6	28963560	28963560	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	250	13	183	0	ENST00000377179.3:c.1219A>C	p.Arg407=	p.R407=	ENST00000377179	NM_001010877.2	407	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS34357.1	1219	MUTECT|MUSE	.	GATTCTTATGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF273,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000366384	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377179	Transcript	.	.	ENSG00000197935	13847	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN311_HUMAN	ZNF311	HGNC	.	.	UPI000020D71E	SNV	ZNF311,synonymous_variant,p.%3D,ENST00000377179,;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,;	1732	183	263	SUCCESS
DEFB110	245913	.	GRCh37	6	49989684	49989684	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	119	0	ENST00000371148.2:c.-36G>A		p.*12*	ENST00000371148	NM_001037497.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34475.1	.	MUTECT|MUSE	.	CAGACCTCCTT	NONE	.	.	.	.	.	ENSP00000360190	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000371148	Transcript	.	.	ENSG00000203970	18091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DB110_HUMAN	DEFB110	HGNC	.	.	UPI00005E4A70	SNV	DEFB110,5_prime_UTR_variant,,ENST00000371148,;DEFB110,upstream_gene_variant,,ENST00000393660,;	11	119	105	SUCCESS
GSTA2	2939	.	GRCh37	6	52617735	52617735	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	84	0	ENST00000493422.1:c.331T>G	p.Phe111Val	p.F111V	ENST00000493422	NM_000846.4	111	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS4944.1	331	MUTECT|MUSE|VARSCANS	.	ACTAAAGGGCA	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11571:SF115,hmmpanther:PTHR11571,Pfam_domain:PF00043,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616	.	.	ENSP00000420168	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000493422	Transcript	.	.	ENSG00000244067	4627	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.07)	.	GSTA2_HUMAN	GSTA2	HGNC	.	.	UPI0000072E13	SNV	GSTA2,missense_variant,p.Phe111Val,ENST00000493422,;	487	84	77	SUCCESS
LHFPL3	375612	.	GRCh37	7	103969491	103969491	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	59	0	ENST00000424859.1:c.222G>T	p.Leu74=	p.L74=	ENST00000424859	NM_199000.2	74	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	.	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTGACCTG	NONE	.	.	Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13	.	.	ENSP00000444350	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000535008	Transcript	.	.	ENSG00000187416	6589	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LHFPL3	HGNC	F5GZM2_HUMAN	.	UPI0002065540	SNV	LHFPL3,synonymous_variant,p.%3D,ENST00000401970,;LHFPL3,synonymous_variant,p.%3D,ENST00000424859,;LHFPL3,synonymous_variant,p.%3D,ENST00000543266,;LHFPL3,synonymous_variant,p.%3D,ENST00000535008,;	388	59	61	SUCCESS
PENK	5179	.	GRCh37	8	57354357	57354357	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1216096657	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	88	0	ENST00000314922.3:c.278G>A	p.Ser93Asn	p.S93N	ENST00000314922	NM_006211.3	93	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS6168.1	278	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCTTTCT	NONE	.	.	Prints_domain:PR01029,hmmpanther:PTHR11438:SF3,hmmpanther:PTHR11438	.	.	ENSP00000324248	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.54)	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,missense_variant,p.Ser93Asn,ENST00000314922,;PENK,missense_variant,p.Ser93Asn,ENST00000451791,;PENK,missense_variant,p.Ser93Asn,ENST00000518974,;PENK,intron_variant,,ENST00000517415,;PENK,downstream_gene_variant,,ENST00000523051,;PENK,downstream_gene_variant,,ENST00000518770,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,non_coding_transcript_exon_variant,,ENST00000523274,;PENK,upstream_gene_variant,,ENST00000520589,;PENK,downstream_gene_variant,,ENST00000521153,;	355	88	78	SUCCESS
TRPA1	8989	.	GRCh37	8	72975749	72975749	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761880074	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	51	0	ENST00000262209.4:c.610C>A	p.Gln204Lys	p.Q204K	ENST00000262209	NM_007332.2	204	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34908.1	610	MUTECT|MUSE|VARSCANS	.	AGCTTGGTGAA	NONE	byFrequency	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	5/27	.	.	.	.	.	.	.	.	rs761880074,COSM333493	5/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.159)	.	tolerated(0.3)	0,1	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Gln56Lys,ENST00000523582,;TRPA1,missense_variant,p.Gln204Lys,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519068,;	818	51	77	SUCCESS
PMP2	5375	.	GRCh37	8	82357195	82357195	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	77	0	ENST00000256103.2:c.103A>G	p.Asn35Asp	p.N35D	ENST00000256103	NM_002677.3	35	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS6229.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATTTCCCA	NONE	.	.	Superfamily_domains:SSF50814,Pfam_domain:PF00061,Gene3D:2.40.128.20,hmmpanther:PTHR11955:SF64,hmmpanther:PTHR11955	.	.	ENSP00000256103	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000256103	Transcript	.	.	ENSG00000147588	9117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.25)	.	MYP2_HUMAN	PMP2	HGNC	.	.	UPI000013CEEB	SNV	PMP2,missense_variant,p.Asn35Asp,ENST00000256103,;PMP2,intron_variant,,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;	240	77	98	SUCCESS
GALNT12	79695	.	GRCh37	9	101570276	101570276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	23	0	ENST00000375011.3:c.296G>T	p.Arg99Leu	p.R99L	ENST00000375011	NM_024642.4	99	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS6737.1	296	RADIA|SOMATICSNIPER|VARSCANS	.	CGTGCGGCTGC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF18	.	.	ENSP00000364150	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000375011	Transcript	.	.	ENSG00000119514	19877	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.097)	.	tolerated(0.08)	.	GLT12_HUMAN	GALNT12	HGNC	.	.	UPI000004D295	SNV	GALNT12,missense_variant,p.Arg99Leu,ENST00000375011,;	296	23	23	SUCCESS
TSC1	7248	.	GRCh37	9	135781136	135781136	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	9	129	0	ENST00000298552.3:c.1829T>C	p.Val610Ala	p.V610A	ENST00000298552	NM_001162426.1	610	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6956.1	1829	MUTECT|MUSE	.	ATGCCACCTCA	NONE	.	.	hmmpanther:PTHR15154,Pfam_domain:PF04388	.	.	ENSP00000298552	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.217)	.	deleterious(0.01)	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,missense_variant,p.Val610Ala,ENST00000298552,;TSC1,missense_variant,p.Val559Ala,ENST00000545250,;TSC1,missense_variant,p.Val610Ala,ENST00000440111,;TSC1,downstream_gene_variant,,ENST00000493467,;	2051	129	139	SUCCESS
LCN9	392399	.	GRCh37	9	138556579	138556579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	76	1	ENST00000277526.3:c.245A>G	p.Glu82Gly	p.E82G	ENST00000277526	NM_001001676.1	82	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS56593.1	245	MUTECT|MUSE	.	GGGGGAGTGTG	NONE	.	.	hmmpanther:PTHR11430:SF28,hmmpanther:PTHR11430,Pfam_domain:PF00061,Gene3D:2.40.128.20,Superfamily_domains:SSF50814,Prints_domain:PR01221	.	.	ENSP00000277526	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000277526	Transcript	.	.	ENSG00000148386	17442	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	LCN9_HUMAN	LCN9	HGNC	.	.	UPI00003779EE	SNV	LCN9,missense_variant,p.Glu82Gly,ENST00000277526,;LCN9,non_coding_transcript_exon_variant,,ENST00000430290,;LCN9,upstream_gene_variant,,ENST00000554343,;	245	77	75	SUCCESS
DMRT1	1761	.	GRCh37	9	841821	841821	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	107	0	ENST00000382276.3:c.-18A>T		p.*6*	ENST00000382276	NM_021951.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6442.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCACTTCT	NONE	.	.	.	.	.	ENSP00000371711	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000382276	Transcript	.	.	ENSG00000137090	2934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DMRT1_HUMAN	DMRT1	HGNC	H3BN61_HUMAN	.	UPI00000008AC	SNV	DMRT1,5_prime_UTR_variant,,ENST00000382276,;DMRT1,upstream_gene_variant,,ENST00000569227,;DMRT1,non_coding_transcript_exon_variant,,ENST00000564322,;	132	107	109	SUCCESS
CT45A5	441521	.	GRCh37	X	134947978	134947978	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782512841	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	65	0	ENST00000463085.2:c.347C>G	p.Pro116Arg	p.P116R	ENST00000463085		116	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS35406.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGGAGAG	NONE	.	.	hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF8	.	.	ENSP00000424778	.	3/5	.	.	.	.	.	.	.	.	rs782512841	3/5	PASS	ENST00000463085	Transcript	.	.	ENSG00000242284	33270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	deleterious(0.01)	.	CT455_HUMAN	CT45A5	HGNC	.	.	UPI00002125B4	SNV	CT45A5,missense_variant,p.Pro116Arg,ENST00000491480,;CT45A5,missense_variant,p.Pro116Arg,ENST00000463085,;CT45A5,missense_variant,p.Pro116Arg,ENST00000370724,;CT45A4,intron_variant,,ENST00000420087,;	437	65	74	SUCCESS
HPSE2	60495	.	GRCh37	10	100992230	100992230	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	172	269	0	ENST00000370552.3:c.323T>A	p.Leu108His	p.L108H	ENST00000370552	NM_021828.4	108	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7477.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAAAGTCCC	NONE	.	.	hmmpanther:PTHR14363:SF2,hmmpanther:PTHR14363,Superfamily_domains:SSF51445	.	.	ENSP00000359583	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000370552	Transcript	1	.	ENSG00000172987	18374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	HPSE2_HUMAN	HPSE2	HGNC	.	.	UPI00001AEEC0	SNV	HPSE2,missense_variant,p.Leu108His,ENST00000404542,;HPSE2,missense_variant,p.Leu108His,ENST00000370552,;HPSE2,missense_variant,p.Leu108His,ENST00000370546,;HPSE2,missense_variant,p.Leu108His,ENST00000370549,;	383	269	200	SUCCESS
ARMC3	219681	.	GRCh37	10	23244758	23244758	+	synonymous_variant	Silent	SNP	C	C	T	rs570281393	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	80	204	0	ENST00000298032.5:c.189C>T	p.Leu63=	p.L63=	ENST00000298032	NM_173081.3	63	ctC/ctT	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS7142.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTCCTTGA	NONE	by1000G	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	T:0	.	ENSP00000298032	T:0	4/19	.	.	.	.	.	.	.	.	rs570281393	4/19	PASS	ENST00000298032	Transcript	.	T:0.0002	ENSG00000165309	30964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,synonymous_variant,p.%3D,ENST00000409983,;ARMC3,synonymous_variant,p.%3D,ENST00000409049,;ARMC3,synonymous_variant,p.%3D,ENST00000298032,;ARMC3,5_prime_UTR_variant,,ENST00000376528,;ARMC3,5_prime_UTR_variant,,ENST00000447081,;ARMC3,non_coding_transcript_exon_variant,,ENST00000464017,;ARMC3,non_coding_transcript_exon_variant,,ENST00000496741,;ARMC3,non_coding_transcript_exon_variant,,ENST00000468003,;ARMC3,non_coding_transcript_exon_variant,,ENST00000483596,;ARMC3,intron_variant,,ENST00000484642,;	273	204	157	SUCCESS
PFKFB3	5209	.	GRCh37	10	6257273	6257273	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	44	0	ENST00000379775.4:c.292G>T	p.Val98Phe	p.V98F	ENST00000379775	NM_004566.3	98	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS7078.1	292	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGTCCGG	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.300,Pfam_domain:PF01591,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	.	.	ENSP00000369100	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.76)	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,missense_variant,p.Val112Phe,ENST00000540253,;PFKFB3,missense_variant,p.Val98Phe,ENST00000379785,;PFKFB3,missense_variant,p.Val98Phe,ENST00000317350,;PFKFB3,missense_variant,p.Val78Phe,ENST00000536985,;PFKFB3,missense_variant,p.Val98Phe,ENST00000379782,;PFKFB3,missense_variant,p.Val98Phe,ENST00000360521,;PFKFB3,missense_variant,p.Val78Phe,ENST00000379789,;PFKFB3,missense_variant,p.Val98Phe,ENST00000379775,;PFKFB3,missense_variant,p.Val98Phe,ENST00000467491,;PFKFB3,missense_variant,p.Val98Phe,ENST00000477914,;PFKFB3,missense_variant,p.Val98Phe,ENST00000461744,;PFKFB3,missense_variant,p.Val98Phe,ENST00000490474,;	622	44	36	SUCCESS
SFTPA2	729238	.	GRCh37	10	81317058	81317058	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	238	421	1	ENST00000372325.2:c.654T>G	p.Gly218=	p.G218=	ENST00000372325	NM_001098668.2	218	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS41540.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGACCTGC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24024:SF13,hmmpanther:PTHR24024,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,synonymous_variant,p.%3D,ENST00000372325,;SFTPA2,synonymous_variant,p.%3D,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	739	422	293	SUCCESS
PGR	5241	.	GRCh37	11	100999049	100999049	+	synonymous_variant	Silent	SNP	T	T	C	rs1591439785	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	36	0	ENST00000325455.5:c.753A>G	p.Gly251=	p.G251=	ENST00000325455	NM_001202474.3	251	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8310.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161	.	.	ENSP00000325120	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,synonymous_variant,p.%3D,ENST00000263463,;PGR,synonymous_variant,p.%3D,ENST00000325455,;PGR,intron_variant,,ENST00000534013,;PGR,synonymous_variant,p.%3D,ENST00000534780,;PGR,synonymous_variant,p.%3D,ENST00000528960,;PGR,synonymous_variant,p.%3D,ENST00000526300,;	2207	36	28	SUCCESS
IL10RA	3587	.	GRCh37	11	117860245	117860245	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	91	1	ENST00000227752.3:c.277A>T	p.Ser93Cys	p.S93C	ENST00000227752	NM_001558.3	93	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8388.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACAGCAAT	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF01108,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	.	.	ENSP00000227752	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000227752	Transcript	.	.	ENSG00000110324	5964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	deleterious(0.05)	.	I10R1_HUMAN	IL10RA	HGNC	F5H5Y4_HUMAN	.	UPI000013C8BF	SNV	IL10RA,missense_variant,p.Ser93Cys,ENST00000227752,;IL10RA,missense_variant,p.Ser73Cys,ENST00000541785,;IL10RA,intron_variant,,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,non_coding_transcript_exon_variant,,ENST00000534335,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000531365,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,intron_variant,,ENST00000526544,;IL10RA,upstream_gene_variant,,ENST00000530178,;IL10RA,upstream_gene_variant,,ENST00000532009,;	397	92	119	SUCCESS
RP11-196E1.3	0	.	GRCh37	11	119508959	119508959	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	33	0	ENST00000532153.1:n.514+872T>A		p.*172*	ENST00000532153				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGGAAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000532153	Transcript	.	.	ENSG00000254561	.	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-196E1.3	Clone_based_vega_gene	.	.	.	SNV	PVRL1,splice_acceptor_variant,,ENST00000341398,;RP11-196E1.3,intron_variant,,ENST00000532153,;RP11-196E1.3,intron_variant,,ENST00000601999,;PVRL1,upstream_gene_variant,,ENST00000531468,;	.	33	46	SUCCESS
OR6M1	390261	.	GRCh37	11	123676307	123676307	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	32	78	0	ENST00000309154.2:c.751A>T	p.Ser251Cys	p.S251C	ENST00000309154	NM_001005325.1	251	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31696.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCTCCCGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000311038	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000309154	Transcript	.	.	ENSG00000196099	14711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	tolerated(0.06)	.	OR6M1_HUMAN	OR6M1	HGNC	.	.	UPI000003FE18	SNV	OR6M1,missense_variant,p.Ser251Cys,ENST00000309154,;	789	78	97	SUCCESS
ACAD8	27034	.	GRCh37	11	134131002	134131002	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	104	0	ENST00000281182.4:c.770A>G	p.Asn257Ser	p.N257S	ENST00000281182	NM_014384.2	257	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8498.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAACAGAA	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645	.	.	ENSP00000281182	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.244)	.	deleterious(0.01)	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,missense_variant,p.Asn159Ser,ENST00000543332,;ACAD8,missense_variant,p.Asn257Ser,ENST00000281182,;ACAD8,missense_variant,p.Asn130Ser,ENST00000374752,;ACAD8,missense_variant,p.Asn180Ser,ENST00000537423,;ACAD8,upstream_gene_variant,,ENST00000524502,;ACAD8,non_coding_transcript_exon_variant,,ENST00000524547,;ACAD8,3_prime_UTR_variant,,ENST00000524426,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527713,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527665,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,downstream_gene_variant,,ENST00000528325,;ACAD8,downstream_gene_variant,,ENST00000527082,;ACAD8,downstream_gene_variant,,ENST00000534433,;ACAD8,downstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000530533,;ACAD8,downstream_gene_variant,,ENST00000534240,;ACAD8,downstream_gene_variant,,ENST00000525961,;	876	104	109	SUCCESS
CDKN1C	1028	.	GRCh37	11	2906437	2906437	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762106424	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	46	0	ENST00000414822.3:c.283G>A	p.Val95Met	p.V95M	ENST00000414822	NM_000076.2	95	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS7738.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACCGTCT	NONE	.	.	hmmpanther:PTHR10265:SF7,hmmpanther:PTHR10265,Gene3D:1jsuC00	.	.	ENSP00000413720	.	1/3	.	.	.	.	.	.	.	.	rs762106424	1/3	PASS	ENST00000414822	Transcript	.	.	ENSG00000129757	1786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	CDN1C_HUMAN	CDKN1C	HGNC	.	.	UPI0000127442	SNV	CDKN1C,missense_variant,p.Val84Met,ENST00000380725,;CDKN1C,missense_variant,p.Val84Met,ENST00000440480,;CDKN1C,missense_variant,p.Val95Met,ENST00000414822,;CDKN1C,missense_variant,p.Val95Met,ENST00000430149,;CDKN1C,missense_variant,p.Val84Met,ENST00000313407,;SLC22A18AS,downstream_gene_variant,,ENST00000533594,;SLC22A18AS,downstream_gene_variant,,ENST00000526203,;SLC22A18AS,downstream_gene_variant,,ENST00000455942,;CDKN1C,upstream_gene_variant,,ENST00000471157,;	675	46	50	SUCCESS
NUP98	4928	.	GRCh37	11	3721964	3721964	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	113	0	ENST00000359171.4:c.3618A>T	p.Leu1206Phe	p.L1206F	ENST00000359171		1206	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7746.1	3618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTAATTT	NONE	.	.	hmmpanther:PTHR23198,hmmpanther:PTHR23198:SF0	.	.	ENSP00000316032	.	24/33	.	.	.	.	.	.	.	.	.	24/33	PASS	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	NUP98,missense_variant,p.Leu159Phe,ENST00000429801,;NUP98,missense_variant,p.Leu1206Phe,ENST00000324932,;NUP98,missense_variant,p.Leu1206Phe,ENST00000359171,;NUP98,missense_variant,p.Leu1206Phe,ENST00000355260,;NUP98,upstream_gene_variant,,ENST00000488828,;NUP98,non_coding_transcript_exon_variant,,ENST00000483285,;NUP98,intron_variant,,ENST00000529063,;	4039	113	126	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137430	40137430	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	42	143	1	ENST00000278198.2:c.413C>A	p.Thr138Asn	p.T138N	ENST00000278198		138	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS31464.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGTAGTA	BUFFER|p.P140P|c.420G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13306,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	tolerated(0.21)	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Thr138Asn,ENST00000528697,;LRRC4C,missense_variant,p.Thr138Asn,ENST00000278198,;LRRC4C,missense_variant,p.Thr138Asn,ENST00000530763,;LRRC4C,missense_variant,p.Thr138Asn,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2377	144	165	SUCCESS
OR51D1	390038	.	GRCh37	11	4661505	4661505	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	64	0	ENST00000357605.2:c.485T>A	p.Leu162Gln	p.L162Q	ENST00000357605	NM_001004751.2	162	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31357.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGACCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350222	.	1/1	.	.	.	.	.	.	.	.	COSM688035	1/1	PASS	ENST00000357605	Transcript	.	.	ENSG00000197428	15193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.972)	.	deleterious(0)	1	O51D1_HUMAN	OR51D1	HGNC	.	.	UPI000004B21E	SNV	OR51D1,missense_variant,p.Leu162Gln,ENST00000357605,;OR51E1,upstream_gene_variant,,ENST00000396952,;	561	64	66	SUCCESS
OR51E1	143503	.	GRCh37	11	4673751	4673751	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	32	0	ENST00000396952.5:c.-6T>C		p.*2*	ENST00000396952	NM_152430.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31358.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTTCTTC	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,5_prime_UTR_variant,,ENST00000530215,;OR51E1,5_prime_UTR_variant,,ENST00000396952,;	645	32	53	SUCCESS
OR51F1	256892	.	GRCh37	11	4790465	4790465	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs777695708	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	52	161	0	ENST00000380383.1:c.704T>G	p.Leu235Arg	p.L235R	ENST00000380383		235	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS31359.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGAGGACA	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000345163	.	1/1	.	.	.	.	.	.	.	.	rs777695708	1/1	PASS	ENST00000343430	Transcript	.	.	ENSG00000188069	15196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	.	OR51F1	HGNC	A6NLW9_HUMAN	.	UPI000016148C	SNV	OR51F1,missense_variant,p.Leu228Arg,ENST00000343430,;OR51F1,missense_variant,p.Leu235Arg,ENST00000380383,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	683	161	178	SUCCESS
OR5B12	390191	.	GRCh37	11	58207528	58207528	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768338907	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	38	153	0	ENST00000302572.2:c.97T>A	p.Tyr33Asn	p.Y33N	ENST00000302572	NM_001004733.2	33	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS31551.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTAGATGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306657	.	1/1	.	.	.	.	.	.	.	.	rs768338907	1/1	PASS	ENST00000302572	Transcript	.	.	ENSG00000172362	15432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	OR5BC_HUMAN	OR5B12	HGNC	.	.	UPI00000015B2	SNV	OR5B12,missense_variant,p.Tyr33Asn,ENST00000302572,;	119	153	147	SUCCESS
ZFP91	80829	.	GRCh37	11	58347078	58347078	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	36	0	ENST00000316059.6:c.324G>A	p.Lys108=	p.K108=	ENST00000316059	NM_001197051.1	108	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS31553.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGAAGAG	NONE	.	.	hmmpanther:PTHR11389:SF437,hmmpanther:PTHR11389	.	.	ENSP00000339030	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000316059	Transcript	.	.	ENSG00000186660	14983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP91_HUMAN	ZFP91	HGNC	B4DIN6_HUMAN	.	UPI0000070D45	SNV	ZFP91,synonymous_variant,p.%3D,ENST00000316059,;LPXN,upstream_gene_variant,,ENST00000528489,;LPXN,upstream_gene_variant,,ENST00000528954,;LPXN,upstream_gene_variant,,ENST00000395074,;ZFP91-CNTF,synonymous_variant,p.%3D,ENST00000389919,;LPXN,upstream_gene_variant,,ENST00000530561,;LPXN,upstream_gene_variant,,ENST00000529915,;	495	36	44	SUCCESS
CNGA4	1262	.	GRCh37	11	6261357	6261357	+	synonymous_variant	Silent	SNP	C	C	T	rs878876329	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	71	0	ENST00000379936.2:c.333C>T	p.Arg111=	p.R111=	ENST00000379936	NM_001037329.3	111	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31408.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGCACCTG	NONE	.	.	hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000369268	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000379936	Transcript	.	.	ENSG00000132259	2152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,synonymous_variant,p.%3D,ENST00000379936,;CNGA4,intron_variant,,ENST00000533426,;	448	71	70	SUCCESS
CCKBR	887	.	GRCh37	11	6292577	6292577	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201876764	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	91	0	ENST00000334619.2:c.1148C>T	p.Ala383Val	p.A383V	ENST00000334619	NM_176875.3	383	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7761.1	1148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335544	.	5/5	.	.	.	.	.	.	.	.	rs201876764,COSM1703505,COSM1703506	5/5	PASS	ENST00000334619	Transcript	.	.	ENSG00000110148	1571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.983)	.	deleterious(0)	0,1,1	GASR_HUMAN	CCKBR	HGNC	.	.	UPI0000000C18	SNV	CCKBR,missense_variant,p.Ala452Val,ENST00000525462,;CCKBR,missense_variant,p.Ala299Val,ENST00000532715,;CCKBR,missense_variant,p.Ala383Val,ENST00000334619,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,downstream_gene_variant,,ENST00000532396,;	1341	91	86	SUCCESS
DEAF1	10522	.	GRCh37	11	679715	679715	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	24	0	ENST00000382409.3:c.1099C>A	p.Gln367Lys	p.Q367K	ENST00000382409	NM_021008.2	367	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS31327.1	1099	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGGCCG	NONE	.	.	hmmpanther:PTHR10237	.	.	ENSP00000371846	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000382409	Transcript	.	.	ENSG00000177030	14677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	deleterious(0.03)	.	DEAF1_HUMAN	DEAF1	HGNC	.	.	UPI00001290E6	SNV	DEAF1,missense_variant,p.Gln367Lys,ENST00000382409,;DEAF1,missense_variant,p.Gln278Lys,ENST00000338675,;RP11-754B17.1,downstream_gene_variant,,ENST00000527799,;DEAF1,non_coding_transcript_exon_variant,,ENST00000530813,;DEAF1,non_coding_transcript_exon_variant,,ENST00000525904,;DEAF1,missense_variant,p.Gln155Lys,ENST00000527170,;DEAF1,upstream_gene_variant,,ENST00000526790,;	1584	24	27	SUCCESS
MYO7A	4647	.	GRCh37	11	76858873	76858873	+	synonymous_variant	Silent	SNP	G	G	A	rs782185833	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	45	84	0	ENST00000409709.3:c.162G>A	p.Thr54=	p.T54=	ENST00000409709	NM_000260.3	54	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS53683.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACGCACAT	NONE	byFrequency	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,Superfamily_domains:SSF52540	.	.	ENSP00000386331	.	4/49	.	.	.	.	.	.	.	.	rs782185833	4/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,synonymous_variant,p.%3D,ENST00000409893,;MYO7A,synonymous_variant,p.%3D,ENST00000409619,;MYO7A,synonymous_variant,p.%3D,ENST00000409709,;MYO7A,synonymous_variant,p.%3D,ENST00000458637,;	434	84	76	SUCCESS
NOX4	50507	.	GRCh37	11	89182674	89182674	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	101	226	0	ENST00000263317.4:c.283A>T	p.Arg95Trp	p.R95W	ENST00000263317		95	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8285.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTGGTTC	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF01794	.	.	ENSP00000263317	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,missense_variant,p.Arg71Trp,ENST00000535633,;NOX4,missense_variant,p.Arg71Trp,ENST00000527956,;NOX4,missense_variant,p.Arg71Trp,ENST00000542487,;NOX4,missense_variant,p.Arg71Trp,ENST00000343727,;NOX4,missense_variant,p.Arg116Trp,ENST00000413594,;NOX4,missense_variant,p.Arg71Trp,ENST00000532825,;NOX4,missense_variant,p.Arg95Trp,ENST00000534731,;NOX4,missense_variant,p.Arg95Trp,ENST00000263317,;NOX4,missense_variant,p.Arg95Trp,ENST00000525196,;NOX4,missense_variant,p.Arg70Trp,ENST00000528341,;NOX4,missense_variant,p.Arg71Trp,ENST00000424319,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000527626,;NOX4,missense_variant,p.Arg95Trp,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000525278,;	522	226	299	SUCCESS
SESN3	143686	.	GRCh37	11	94906456	94906456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	121	0	ENST00000536441.1:c.1442T>C	p.Leu481Pro	p.L481P	ENST00000536441	NM_144665.3	481	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8303.1	1442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAAGAAGT	NONE	.	.	hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474,Pfam_domain:PF04636	.	.	ENSP00000441927	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000536441	Transcript	.	.	ENSG00000149212	23060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SESN3_HUMAN	SESN3	HGNC	.	.	UPI0000135891	SNV	SESN3,missense_variant,p.Leu342Pro,ENST00000278499,;SESN3,missense_variant,p.Leu481Pro,ENST00000536441,;RP11-712B9.2,intron_variant,,ENST00000534864,;RP11-712B9.2,intron_variant,,ENST00000534891,;	1779	121	139	SUCCESS
RITA1	84934	.	GRCh37	12	113629261	113629261	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780174678	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	52	0	ENST00000548278.1:c.449G>T	p.Gly150Val	p.G150V	ENST00000548278	NM_032848.1	150	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9166.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGTAGCC	NONE	.	.	.	.	.	ENSP00000449841	.	4/4	.	.	.	.	.	.	.	.	rs780174678	4/4	PASS	ENST00000548278	Transcript	.	.	ENSG00000139405	25925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	RITA_HUMAN	RITA1	HGNC	.	.	UPI0000037271	SNV	RITA1,missense_variant,p.Gly174Val,ENST00000552495,;RITA1,missense_variant,p.Gly150Val,ENST00000548278,;RITA1,missense_variant,p.Gly150Val,ENST00000549621,;IQCD,downstream_gene_variant,,ENST00000416617,;IQCD,downstream_gene_variant,,ENST00000299732,;RP11-545P7.4,intron_variant,,ENST00000552525,;	1141	52	43	SUCCESS
NOS1	4842	.	GRCh37	12	117655927	117655927	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs763373196	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	169	0	ENST00000317775.6:c.4213C>T	p.Arg1405Ter	p.R1405*	ENST00000317775	NM_000620.4	1405	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS55890.1	4315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCGCAGGG	CODON|p.R1405Q|c.4214G>A|3	.	.	PIRSF_domain:PIRSF000333	.	.	ENSP00000337459	.	28/29	.	.	.	.	.	.	.	.	rs763373196	28/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,stop_gained,p.Arg1405Ter,ENST00000317775,;NOS1,stop_gained,p.Arg1439Ter,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	4320	169	136	SUCCESS
ERC1	23085	.	GRCh37	12	1192437	1192437	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	92	0	ENST00000360905.4:c.777A>C	p.Val259=	p.V259=	ENST00000360905		259	gtA/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS8508.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTAGCAGA	NONE	.	.	hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Pfam_domain:PF10174	.	.	ENSP00000380386	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,synonymous_variant,p.%3D,ENST00000546231,;ERC1,synonymous_variant,p.%3D,ENST00000592048,;ERC1,synonymous_variant,p.%3D,ENST00000360905,;ERC1,synonymous_variant,p.%3D,ENST00000589028,;ERC1,synonymous_variant,p.%3D,ENST00000397203,;ERC1,synonymous_variant,p.%3D,ENST00000543086,;ERC1,synonymous_variant,p.%3D,ENST00000355446,;ERC1,upstream_gene_variant,,ENST00000536573,;ERC1,synonymous_variant,p.%3D,ENST00000542302,;ERC1,synonymous_variant,p.%3D,ENST00000440394,;ERC1,synonymous_variant,p.%3D,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,intron_variant,,ENST00000545948,;ERC1,upstream_gene_variant,,ENST00000539007,;	1183	92	66	SUCCESS
FKBP4	2288	.	GRCh37	12	2904411	2904411	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	159	0	ENST00000001008.4:c.105+1G>A		p.X35_splice	ENST00000001008	NM_002014.3	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8512.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGTGAGG	NONE	.	.	.	.	.	ENSP00000001008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000001008	Transcript	.	.	ENSG00000004478	3720	.	.	HIGH	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKBP4_HUMAN	FKBP4	HGNC	F5H1U3_HUMAN	.	UPI000013C4D0	SNV	FKBP4,splice_donor_variant,,ENST00000001008,;FKBP4,upstream_gene_variant,,ENST00000538622,;RP4-816N1.6,downstream_gene_variant,,ENST00000547834,;RP4-816N1.7,downstream_gene_variant,,ENST00000547042,;CBX3P4,upstream_gene_variant,,ENST00000540428,;FKBP4,upstream_gene_variant,,ENST00000540260,;FKBP4,splice_donor_variant,,ENST00000543769,;FKBP4,upstream_gene_variant,,ENST00000543037,;	.	159	125	SUCCESS
OR8S1	341568	.	GRCh37	12	48919696	48919696	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	92	0	ENST00000310194.1:c.282A>G	p.Val94=	p.V94=	ENST00000310194	NM_001005203.2	94	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS31789.1	282	RADIA|MUTECT|MUSE	.	TCAGTAGAGGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF239,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000310632	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000310194	Transcript	.	.	ENSG00000197376	19628	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR8S1_HUMAN	OR8S1	HGNC	.	.	UPI000013EFC1	SNV	OR8S1,synonymous_variant,p.%3D,ENST00000310194,;OR8S1,intron_variant,,ENST00000551654,;	282	92	66	SUCCESS
KRT80	144501	.	GRCh37	12	52579367	52579367	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	15	0	ENST00000394815.2:c.305A>T	p.Gln102Leu	p.Q102L	ENST00000394815	NM_182507.2	102	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8821.2	305	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GGGCTTGCACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000378292	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000394815	Transcript	.	.	ENSG00000167767	27056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	K2C80_HUMAN	KRT80	HGNC	.	.	UPI0000160118	SNV	KRT80,missense_variant,p.Gln102Leu,ENST00000313234,;KRT80,missense_variant,p.Gln102Leu,ENST00000394815,;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;	403	15	13	SUCCESS
KRT7	3855	.	GRCh37	12	52635357	52635357	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	84	0	ENST00000331817.5:c.795G>T	p.Lys265Asn	p.K265N	ENST00000331817	NM_005556.3	265	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS8822.1	795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAAGGCGCA	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF133,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000329243	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000331817	Transcript	.	.	ENSG00000135480	6445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	deleterious(0)	.	K2C7_HUMAN	KRT7	HGNC	.	.	UPI000013CF9E	SNV	KRT7,missense_variant,p.Lys265Asn,ENST00000331817,;RP3-416H24.1,downstream_gene_variant,,ENST00000546686,;KRT7,non_coding_transcript_exon_variant,,ENST00000552183,;KRT7,non_coding_transcript_exon_variant,,ENST00000546856,;KRT7,downstream_gene_variant,,ENST00000547613,;KRT7,upstream_gene_variant,,ENST00000552322,;KRT7,upstream_gene_variant,,ENST00000548657,;KRT7,upstream_gene_variant,,ENST00000549127,;KRT7,non_coding_transcript_exon_variant,,ENST00000548088,;KRT7,non_coding_transcript_exon_variant,,ENST00000551130,;	978	84	54	SUCCESS
KIF5A	3798	.	GRCh37	12	57963063	57963063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	99	0	ENST00000455537.2:c.844A>T	p.Ser282Cys	p.S282C	ENST00000455537	NM_004984.2	282	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8945.1	844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACAGCAAA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000408979	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000455537	Transcript	.	.	ENSG00000155980	6323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF5A_HUMAN	KIF5A	HGNC	.	.	UPI000013DE4C	SNV	KIF5A,missense_variant,p.Ser282Cys,ENST00000455537,;KIF5A,missense_variant,p.Ser193Cys,ENST00000286452,;	1118	99	77	SUCCESS
ATP2B1	490	.	GRCh37	12	89998055	89998055	+	synonymous_variant	Silent	SNP	G	G	A	rs112647159	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	53	176	0	ENST00000428670.3:c.2511C>T	p.Ser837=	p.S837=	ENST00000428670		837	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9035.1	2511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATGCTTGT	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,TIGRFAM_domain:TIGR01494,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,Superfamily_domains:SSF56784	.	.	ENSP00000392043	.	16/21	.	.	.	.	.	.	.	.	rs112647159	16/21	PASS	ENST00000428670	Transcript	.	.	ENSG00000070961	814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2B1_HUMAN	ATP2B1	HGNC	Q3L582_HUMAN	.	UPI000002A436	SNV	ATP2B1,synonymous_variant,p.%3D,ENST00000393164,;ATP2B1,synonymous_variant,p.%3D,ENST00000261173,;ATP2B1,synonymous_variant,p.%3D,ENST00000428670,;ATP2B1,synonymous_variant,p.%3D,ENST00000359142,;ATP2B1,synonymous_variant,p.%3D,ENST00000348959,;ATP2B1,upstream_gene_variant,,ENST00000550716,;ATP2B1,non_coding_transcript_exon_variant,,ENST00000551009,;ATP2B1,non_coding_transcript_exon_variant,,ENST00000549727,;ATP2B1,upstream_gene_variant,,ENST00000552275,;	2968	176	129	SUCCESS
CRADD	8738	.	GRCh37	12	94243784	94243784	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	86	0	ENST00000332896.3:c.337A>T	p.Ser113Cys	p.S113C	ENST00000332896	NM_003805.3	113	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9048.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACAGCTCC	NONE	.	.	Superfamily_domains:SSF47986,SMART_domains:SM00005,hmmpanther:PTHR15034:SF4,hmmpanther:PTHR15034	.	.	ENSP00000439068	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000542893	Transcript	.	.	ENSG00000169372	2340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0.04)	.	CRADD_HUMAN	CRADD	HGNC	Q53XL1_HUMAN	.	UPI00001283AA	SNV	CRADD,missense_variant,p.Ser113Cys,ENST00000332896,;CRADD,missense_variant,p.Ser113Cys,ENST00000542893,;CRADD,intron_variant,,ENST00000541813,;CRADD,intron_variant,,ENST00000548483,;CRADD,non_coding_transcript_exon_variant,,ENST00000548330,;CRADD,non_coding_transcript_exon_variant,,ENST00000609189,;CRADD,non_coding_transcript_exon_variant,,ENST00000550030,;CRADD,downstream_gene_variant,,ENST00000549615,;CRADD,intron_variant,,ENST00000551065,;	655	86	70	SUCCESS
TMCC3	57458	.	GRCh37	12	94972248	94972248	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	29	83	0	ENST00000261226.4:c.1053A>T	p.Thr351=	p.T351=	ENST00000261226	NM_020698.2	351	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31877.1	1053	RADIA|MUTECT|MUSE	.	TTGGCTGTCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8	.	.	ENSP00000261226	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000261226	Transcript	.	.	ENSG00000057704	29199	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMCC3_HUMAN	TMCC3	HGNC	G3V207_HUMAN,F8VQF2_HUMAN	.	UPI00001FB2DD	SNV	TMCC3,synonymous_variant,p.%3D,ENST00000261226,;TMCC3,synonymous_variant,p.%3D,ENST00000551457,;TMCC3,downstream_gene_variant,,ENST00000548918,;	1185	83	49	SUCCESS
TPP2	7174	.	GRCh37	13	103288606	103288606	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	55	187	0	ENST00000376065.4:c.1542T>A	p.Asn514Lys	p.N514K	ENST00000376065	NM_003291.2	514	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS9502.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATACATC	NONE	.	.	Superfamily_domains:SSF52743,hmmpanther:PTHR10795	.	.	ENSP00000365233	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000376065	Transcript	.	.	ENSG00000134900	12016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated(0.27)	.	TPP2_HUMAN	TPP2	HGNC	.	.	UPI0000001C91	SNV	TPP2,missense_variant,p.Asn514Lys,ENST00000376052,;TPP2,missense_variant,p.Asn514Lys,ENST00000376065,;TPP2,downstream_gene_variant,,ENST00000493770,;	1578	187	154	SUCCESS
RNF6	6049	.	GRCh37	13	26789149	26789149	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	120	0	ENST00000346166.3:c.870A>T	p.Thr290=	p.T290=	ENST00000346166	NM_183043.2	290	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9316.1	870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACTGTAAC	NONE	.	.	hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF4	.	.	ENSP00000371000	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000381588	Transcript	.	.	ENSG00000127870	10069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF6_HUMAN	RNF6	HGNC	.	.	UPI0000000A0A	SNV	RNF6,synonymous_variant,p.%3D,ENST00000346166,;RNF6,synonymous_variant,p.%3D,ENST00000381570,;RNF6,synonymous_variant,p.%3D,ENST00000381588,;RNF6,intron_variant,,ENST00000399762,;RNF6,intron_variant,,ENST00000468480,;RNF6,downstream_gene_variant,,ENST00000476347,;RNF6,downstream_gene_variant,,ENST00000498039,;	1623	120	100	SUCCESS
FLT1	2321	.	GRCh37	13	29008090	29008090	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	67	200	0	ENST00000282397.4:c.679A>T	p.Asn227Tyr	p.N227Y	ENST00000282397	NM_002019.4	227	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9330.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATTGGCTG	NONE	.	.	Prints_domain:PR01833	.	.	ENSP00000282397	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	deleterious(0.03)	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,missense_variant,p.Asn227Tyr,ENST00000539099,;FLT1,missense_variant,p.Asn227Tyr,ENST00000282397,;FLT1,missense_variant,p.Asn227Tyr,ENST00000541932,;	931	200	137	SUCCESS
FREM2	341640	.	GRCh37	13	39262723	39262723	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	106	1	ENST00000280481.7:c.1242A>C	p.Val414=	p.V414=	ENST00000280481	NM_207361.4	414	gtA/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS31960.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAGTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	1458	107	83	SUCCESS
KIAA0226L	0	.	GRCh37	13	46946076	46946076	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs140036142	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	72	0	ENST00000389908.3:c.535G>A	p.Gly179Ser	p.G179S	ENST00000389908		179	Ggt/Agt	0	.	G:0	.	G:0	.	T	G/S	protein_coding	YES	CCDS31970.2	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACCTTCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF9	G:0.0169	.	ENSP00000396935	G:0	3/15	.	.	.	.	.	.	.	.	rs140036142	3/15	PASS	ENST00000429979	Transcript	.	G:0.0034	ENSG00000102445	20420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	G:0	tolerated(0.13)	.	K226L_HUMAN	KIAA0226L	HGNC	Q5W050_HUMAN,A8XR14_HUMAN,A8KAG9_HUMAN	.	UPI00001FCD59	SNV	KIAA0226L,missense_variant,p.Gly179Ser,ENST00000389908,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000378781,;KIAA0226L,missense_variant,p.Gly112Ser,ENST00000378784,;KIAA0226L,missense_variant,p.Gly44Ser,ENST00000534925,;KIAA0226L,missense_variant,p.Gly44Ser,ENST00000417405,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000429979,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000378787,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000378797,;KIAA0226L,incomplete_terminal_codon_variant,p.%3D,ENST00000439642,;KIAA0226L,intron_variant,,ENST00000322896,;KIAA0226L,intron_variant,,ENST00000409879,;RNU2-6P,downstream_gene_variant,,ENST00000411404,;KIAA0226L,downstream_gene_variant,,ENST00000480935,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000441284,;PPP1R2P4,intron_variant,,ENST00000535073,;	1140	72	50	SUCCESS
PPP1R13B	23368	.	GRCh37	14	104206739	104206739	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	40	0	ENST00000202556.9:c.2014C>T	p.Pro672Ser	p.P672S	ENST00000202556	NM_015316.2	672	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41997.1	2014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGGCTGA	NONE	.	.	hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5	.	.	ENSP00000202556	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000202556	Transcript	.	.	ENSG00000088808	14950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ASPP1_HUMAN	PPP1R13B	HGNC	G3V5J1_HUMAN	.	UPI000049DDC7	SNV	PPP1R13B,missense_variant,p.Pro91Ser,ENST00000423488,;PPP1R13B,missense_variant,p.Pro672Ser,ENST00000202556,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555391,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,downstream_gene_variant,,ENST00000555991,;PPP1R13B,missense_variant,p.Pro328Ser,ENST00000556597,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,downstream_gene_variant,,ENST00000557744,;PPP1R13B,upstream_gene_variant,,ENST00000556334,;PPP1R13B,upstream_gene_variant,,ENST00000557587,;PPP1R13B,upstream_gene_variant,,ENST00000554432,;PPP1R13B,upstream_gene_variant,,ENST00000555825,;	2297	40	29	SUCCESS
CEP170B	283638	.	GRCh37	14	105349414	105349414	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	49	0	ENST00000414716.3:c.620G>C	p.Gly207Ala	p.G207A	ENST00000414716	NM_001112726.2	207	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS45175.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGCTTCC	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18	.	.	ENSP00000404151	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000414716	Transcript	.	.	ENSG00000099814	20362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.07)	.	C170B_HUMAN	CEP170B	HGNC	E9PFC1_HUMAN	.	UPI00001FDCF7	SNV	CEP170B,missense_variant,p.Gly207Ala,ENST00000414716,;CEP170B,missense_variant,p.Gly137Ala,ENST00000556508,;CEP170B,missense_variant,p.Gly137Ala,ENST00000418279,;CEP170B,missense_variant,p.Gly208Ala,ENST00000453495,;	848	49	23	SUCCESS
SLC7A8	23428	.	GRCh37	14	23635745	23635745	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	43	0	ENST00000316902.7:c.156C>G	p.Asn52Lys	p.N52K	ENST00000316902	NM_012244.3	52	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS9590.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGTTCCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF113,hmmpanther:PTHR11785,TIGRFAM_domain:TIGR00911,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000320378	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000316902	Transcript	.	.	ENSG00000092068	11066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LAT2_HUMAN	SLC7A8	HGNC	E9PQT4_HUMAN,E9PIC3_HUMAN,B3KSX4_HUMAN	.	UPI000012E235	SNV	SLC7A8,missense_variant,p.Asn52Lys,ENST00000316902,;SLC7A8,missense_variant,p.Asn52Lys,ENST00000525062,;SLC7A8,missense_variant,p.Asn52Lys,ENST00000469263,;SLC7A8,missense_variant,p.Asn52Lys,ENST00000524758,;	882	43	24	SUCCESS
MYH6	4624	.	GRCh37	14	23859384	23859384	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	85	0	ENST00000356287.3:c.3614T>A	p.Leu1205Gln	p.L1205Q	ENST00000356287		1205	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS9600.1	3614	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCAGCTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000386041	.	26/39	.	.	.	.	.	.	.	.	.	26/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Leu1205Gln,ENST00000405093,;MYH6,missense_variant,p.Leu1205Gln,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	3685	85	68	SUCCESS
G2E3	55632	.	GRCh37	14	31084590	31084590	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	58	203	1	ENST00000206595.6:c.1709A>G	p.Glu570Gly	p.E570G	ENST00000206595	NM_017769.3	570	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9638.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGAGAAAA	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF13,PROSITE_profiles:PS50237	.	.	ENSP00000206595	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000206595	Transcript	.	.	ENSG00000092140	20338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	G2E3_HUMAN	G2E3	HGNC	G3V5B6_HUMAN,G3V3B6_HUMAN,F8W0F5_HUMAN,F8VY49_HUMAN,F5GX24_HUMAN	.	UPI000013F3A8	SNV	G2E3,missense_variant,p.Glu600Gly,ENST00000553504,;G2E3,missense_variant,p.Glu570Gly,ENST00000206595,;G2E3,missense_variant,p.Glu524Gly,ENST00000438909,;G2E3,3_prime_UTR_variant,,ENST00000548934,;G2E3,non_coding_transcript_exon_variant,,ENST00000549159,;	1863	204	148	SUCCESS
ADAM21P1	145241	.	GRCh37	14	70713155	70713155	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs546253712	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	123	0	ENST00000530196.1:n.1364G>A		p.*455*	ENST00000530196				0	.	T:0	.	T:0	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGCTTT	NONE	by1000G	.	.	T:0	.	.	T:0.001	1/1	.	.	.	.	.	.	.	.	rs546253712,rs745893637	1/1	PASS	ENST00000530196	Transcript	.	T:0.0002	ENSG00000235812	19822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	ADAM21P1	HGNC	.	.	.	SNV	ADAM21P1,non_coding_transcript_exon_variant,,ENST00000530196,;ADAM21P1,non_coding_transcript_exon_variant,,ENST00000529267,;	1364	123	95	SUCCESS
HEATR4	399671	.	GRCh37	14	73989702	73989702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	121	0	ENST00000334988.2:c.155G>T	p.Ser52Ile	p.S52I	ENST00000334988	NM_203309.2	52	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS9815.2	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCTGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14	.	.	ENSP00000450444	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000553558	Transcript	.	.	ENSG00000187105	16761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.02)	.	HEAT4_HUMAN	HEATR4	HGNC	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN	.	UPI00001FD7FD	SNV	HEATR4,missense_variant,p.Ser52Ile,ENST00000334988,;HEATR4,missense_variant,p.Ser52Ile,ENST00000553558,;HEATR4,missense_variant,p.Ser5Ile,ENST00000560393,;HEATR4,missense_variant,p.Ser52Ile,ENST00000556455,;HEATR4,downstream_gene_variant,,ENST00000557603,;HEATR4,downstream_gene_variant,,ENST00000563329,;RP3-414A15.2,intron_variant,,ENST00000555972,;RP3-414A15.11,upstream_gene_variant,,ENST00000553394,;	477	121	79	SUCCESS
ELMSAN1	0	.	GRCh37	14	74191982	74191982	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	59	0	ENST00000286523.5:c.2567A>G	p.Gln856Arg	p.Q856R	ENST00000286523	NM_194278.3	856	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9819.1	2567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTGCACC	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000286523	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000286523	Transcript	.	.	ENSG00000156030	19853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	EMSA1_HUMAN	ELMSAN1	HGNC	F6RU81_HUMAN,C9JYU7_HUMAN	.	UPI00001FD815	SNV	ELMSAN1,missense_variant,p.Gln856Arg,ENST00000435371,;ELMSAN1,missense_variant,p.Gln856Arg,ENST00000394071,;ELMSAN1,missense_variant,p.Gln856Arg,ENST00000286523,;ELMSAN1,missense_variant,p.Gln856Arg,ENST00000423556,;ELMSAN1,3_prime_UTR_variant,,ENST00000451078,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000476562,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000483269,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000462716,;ELMSAN1,upstream_gene_variant,,ENST00000478847,;	3350	59	47	SUCCESS
CPSF2	53981	.	GRCh37	14	92609350	92609350	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	59	192	0	ENST00000298875.4:c.852A>G		p.X284_splice	ENST00000298875	NM_017437.2	284	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS9902.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTAGAATG	NONE	.	.	hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,Pfam_domain:PF10996,SMART_domains:SM01027,Superfamily_domains:SSF56281	.	.	ENSP00000298875	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000298875	Transcript	.	.	ENSG00000165934	2325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSF2_HUMAN	CPSF2	HGNC	G3V3T7_HUMAN,B3KN45_HUMAN	.	UPI0000185F22	SNV	CPSF2,synonymous_variant,p.%3D,ENST00000298875,;	1137	192	154	SUCCESS
NBEAP1	606	.	GRCh37	15	20874843	20874843	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs769388642	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	40	254	0	ENST00000556948.1:n.406G>T		p.*136*	ENST00000556948				0	.	.	.	.	.	A	.	retained_intron	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACCCAGTA	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	rs769388642	3/4	PASS	ENST00000556948	Transcript	.	.	ENSG00000258590	1007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NBEAP1	HGNC	.	.	.	SNV	NBEAP1,non_coding_transcript_exon_variant,,ENST00000556948,;NBEAP1,non_coding_transcript_exon_variant,,ENST00000554452,;	406	254	171	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42139617	42139617	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776135432	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	58	0	ENST00000382448.4:c.2723A>G	p.Gln908Arg	p.Q908R	ENST00000382448		908	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS32202.1	2723	RADIA|MUTECT|MUSE	.	GCTCCAGCCTC	NONE	byFrequency	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF31,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000441905	.	24/25	.	.	.	.	.	.	.	.	rs776135432	24/25	PASS	ENST00000542534	Transcript	.	.	ENSG00000243708	9036	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.18)	.	.	PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	PLA2G4B,missense_variant,p.Gln677Arg,ENST00000458483,;PLA2G4B,missense_variant,p.Gln908Arg,ENST00000542534,;JMJD7-PLA2G4B,missense_variant,p.Gln908Arg,ENST00000382448,;PLA2G4B,missense_variant,p.Gln677Arg,ENST00000452633,;JMJD7-PLA2G4B,intron_variant,,ENST00000342159,;PLA2G4B,intron_variant,,ENST00000569354,;SPTBN5,downstream_gene_variant,,ENST00000320955,;RNA5SP393,downstream_gene_variant,,ENST00000363423,;JMJD7-PLA2G4B,3_prime_UTR_variant,,ENST00000487292,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,non_coding_transcript_exon_variant,,ENST00000483748,;PLA2G4B,downstream_gene_variant,,ENST00000461382,;PLA2G4B,downstream_gene_variant,,ENST00000566076,;SPTBN5,downstream_gene_variant,,ENST00000563899,;	2763	58	40	SUCCESS
SPTBN5	51332	.	GRCh37	15	42185565	42185565	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	56	0	ENST00000320955.6:c.131A>G	p.His44Arg	p.H44R	ENST00000320955	NM_016642.3	44	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS61599.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGTGGCCC	NONE	.	.	Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000317790	.	2/68	.	.	.	.	.	.	.	.	.	2/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.His44Arg,ENST00000320955,;RP11-23P13.7,downstream_gene_variant,,ENST00000605942,;RP11-23P13.6,non_coding_transcript_exon_variant,,ENST00000309874,;RP11-23P13.6,intron_variant,,ENST00000564432,;RP11-23P13.6,upstream_gene_variant,,ENST00000562920,;RP11-23P13.6,upstream_gene_variant,,ENST00000568861,;	359	56	44	SUCCESS
GANC	2595	.	GRCh37	15	42566543	42566543	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	25	0	ENST00000318010.8:c.-137G>C		p.*46*	ENST00000318010	NM_198141.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10084.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGAGGGG	NONE	.	.	.	.	.	ENSP00000326227	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000318010	Transcript	.	.	ENSG00000214013	4139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GANC_HUMAN	GANC	HGNC	H3BUE8_HUMAN,H3BPX5_HUMAN,H3BMW3_HUMAN,H3BMM3_HUMAN	.	UPI00001FE303	SNV	GANC,5_prime_UTR_variant,,ENST00000562859,;GANC,5_prime_UTR_variant,,ENST00000440615,;GANC,5_prime_UTR_variant,,ENST00000566442,;GANC,5_prime_UTR_variant,,ENST00000562170,;GANC,5_prime_UTR_variant,,ENST00000318010,;GANC,5_prime_UTR_variant,,ENST00000561871,;TMEM87A,upstream_gene_variant,,ENST00000307216,;TMEM87A,upstream_gene_variant,,ENST00000561578,;TMEM87A,upstream_gene_variant,,ENST00000389834,;TMEM87A,upstream_gene_variant,,ENST00000566474,;TMEM87A,upstream_gene_variant,,ENST00000568432,;TMEM87A,upstream_gene_variant,,ENST00000568400,;TMEM87A,upstream_gene_variant,,ENST00000563371,;TMEM87A,upstream_gene_variant,,ENST00000448392,;GANC,5_prime_UTR_variant,,ENST00000567784,;GANC,5_prime_UTR_variant,,ENST00000570013,;GANC,upstream_gene_variant,,ENST00000567421,;TMEM87A,upstream_gene_variant,,ENST00000562946,;GANC,upstream_gene_variant,,ENST00000568687,;TMEM87A,upstream_gene_variant,,ENST00000569075,;	104	25	24	SUCCESS
FBN1	2200	.	GRCh37	15	48760297	48760297	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	63	205	0	ENST00000316623.5:c.4585A>T	p.Thr1529Ser	p.T1529S	ENST00000316623	NM_000138.4	1529	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS32232.1	4585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGTATCTA	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312	.	.	ENSP00000325527	.	38/66	.	.	.	.	.	.	.	.	.	38/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Thr1529Ser,ENST00000316623,;FBN1,splice_region_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000559133,;	5041	205	149	SUCCESS
ZNF609	23060	.	GRCh37	15	64967591	64967591	+	synonymous_variant	Silent	SNP	T	T	G	rs372733652	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	48	1	ENST00000326648.3:c.2538T>G	p.Ser846=	p.S846=	ENST00000326648	NM_015042.1	846	tcT/tcG	0	G:0	.	.	.	.	G	S	protein_coding	YES	CCDS32270.1	2538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCTGACAT	NONE	byCluster	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3	.	G:0.0001	ENSP00000316527	.	4/9	.	.	.	.	.	.	.	.	rs372733652	4/9	PASS	ENST00000326648	Transcript	.	.	ENSG00000180357	29003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN609_HUMAN	ZNF609	HGNC	.	.	UPI00001D7783	SNV	ZNF609,synonymous_variant,p.%3D,ENST00000326648,;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,downstream_gene_variant,,ENST00000559364,;ZNF609,downstream_gene_variant,,ENST00000558680,;	2666	49	32	SUCCESS
CALML4	91860	.	GRCh37	15	68497753	68497753	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs776673116	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	17	0	ENST00000467889.1:c.-39A>T		p.*13*	ENST00000467889	NM_033429.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10226.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTTCCTG	NONE	byFrequency	.	.	.	.	ENSP00000419081	.	1/5	.	.	.	.	.	.	.	.	rs776673116	1/5	PASS	ENST00000467889	Transcript	.	.	ENSG00000129007	18445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALL4_HUMAN	CALML4	HGNC	H3BS46_HUMAN	.	UPI0000251E74	SNV	CALML4,5_prime_UTR_variant,,ENST00000395465,;CALML4,5_prime_UTR_variant,,ENST00000448060,;CALML4,5_prime_UTR_variant,,ENST00000540479,;CALML4,5_prime_UTR_variant,,ENST00000467889,;RP11-315D16.2,intron_variant,,ENST00000562767,;CLN6,downstream_gene_variant,,ENST00000538696,;CLN6,downstream_gene_variant,,ENST00000564752,;CLN6,downstream_gene_variant,,ENST00000565471,;CLN6,downstream_gene_variant,,ENST00000566347,;CLN6,downstream_gene_variant,,ENST00000418702,;CLN6,downstream_gene_variant,,ENST00000249806,;CALML4,5_prime_UTR_variant,,ENST00000395463,;CLN6,downstream_gene_variant,,ENST00000563917,;CALML4,upstream_gene_variant,,ENST00000478113,;CLN6,downstream_gene_variant,,ENST00000567060,;	147	17	15	SUCCESS
FSD2	123722	.	GRCh37	15	83437679	83437679	+	synonymous_variant	Silent	SNP	A	A	G	rs749681750	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	62	0	ENST00000334574.8:c.1506T>C	p.Thr502=	p.T502=	ENST00000334574		502	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS45332.1	1506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGTGTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000335651	.	9/13	.	.	.	.	.	.	.	.	rs749681750	9/13	PASS	ENST00000334574	Transcript	.	.	ENSG00000186628	18024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSD2_HUMAN	FSD2	HGNC	H0YLA8_HUMAN	.	UPI0000161097	SNV	FSD2,synonymous_variant,p.%3D,ENST00000334574,;FSD2,synonymous_variant,p.%3D,ENST00000541889,;	1688	62	71	SUCCESS
MRPL46	26589	.	GRCh37	15	89008827	89008827	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs146169028	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	58	0	ENST00000312475.4:c.406C>G	p.Arg136Gly	p.R136G	ENST00000312475	NM_022163.3	136	Cgc/Ggc	0	A:0	A:0	.	A:0	.	C	R/G	protein_coding	YES	CCDS10341.1	406	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCGAGCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13124,Pfam_domain:PF11788	A:0.001	A:0.0001	ENSP00000312311	A:0	2/4	.	.	.	.	.	.	.	.	rs146169028	2/4	PASS	ENST00000312475	Transcript	.	A:0.0002	ENSG00000259494	1192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	A:0	deleterious(0)	.	RM46_HUMAN	MRPL46	HGNC	.	.	UPI00000467E8	SNV	MRPL46,missense_variant,p.Arg136Gly,ENST00000312475,;MRPS11,upstream_gene_variant,,ENST00000325844,;MRPS11,upstream_gene_variant,,ENST00000353598,;RP11-97O12.7,non_coding_transcript_exon_variant,,ENST00000561140,;MRPS11,upstream_gene_variant,,ENST00000557974,;MRPL46,upstream_gene_variant,,ENST00000559538,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558660,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558531,;MRPL46,intron_variant,,ENST00000560703,;MRPS11,upstream_gene_variant,,ENST00000559125,;MRPS11,upstream_gene_variant,,ENST00000559323,;MRPS11,upstream_gene_variant,,ENST00000558406,;MRPS11,upstream_gene_variant,,ENST00000560708,;MRPS11,upstream_gene_variant,,ENST00000559557,;MRPS11,upstream_gene_variant,,ENST00000560850,;	448	58	51	SUCCESS
SMG1	23049	.	GRCh37	16	18887703	18887703	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	88	268	0	ENST00000446231.2:c.1633G>T	p.Ala545Ser	p.A545S	ENST00000446231		545	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS45430.1	1633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCTACAG	BUFFER|p.H542R|c.1625A>G|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	.	.	ENSP00000402515	.	13/63	.	.	.	.	.	.	.	.	.	13/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.16)	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,missense_variant,p.Ala519Ser,ENST00000565224,;SMG1,missense_variant,p.Ala435Ser,ENST00000565324,;SMG1,missense_variant,p.Ala463Ser,ENST00000561947,;SMG1,missense_variant,p.Ala545Ser,ENST00000446231,;SMG1,missense_variant,p.Ala545Ser,ENST00000389467,;SMG1,upstream_gene_variant,,ENST00000563235,;SMG1,non_coding_transcript_exon_variant,,ENST00000568239,;SMG1,upstream_gene_variant,,ENST00000568038,;	2046	268	194	SUCCESS
SCNN1G	6340	.	GRCh37	16	23197855	23197855	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766420204	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	46	0	ENST00000300061.2:c.263A>T	p.His88Leu	p.H88L	ENST00000300061	NM_001039.3	88	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS10608.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCACTTCC	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859,Gene3D:2qtsA02	.	.	ENSP00000300061	.	2/13	.	.	.	.	.	.	.	.	rs766420204	2/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.04)	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,missense_variant,p.His88Leu,ENST00000300061,;	406	46	26	SUCCESS
XPO6	23214	.	GRCh37	16	28222718	28222718	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs559755521	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	55	199	0	ENST00000304658.5:c.-29T>A		p.*10*	ENST00000304658	NM_015171.3			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS42135.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGAGCTGG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000302790	T:0.001	1/24	.	.	.	.	.	.	.	.	rs559755521	1/24	PASS	ENST00000304658	Transcript	.	T:0.0004	ENSG00000169180	19733	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,5_prime_UTR_variant,,ENST00000304658,;XPO6,5_prime_UTR_variant,,ENST00000566073,;XPO6,5_prime_UTR_variant,,ENST00000569951,;XPO6,5_prime_UTR_variant,,ENST00000565698,;	473	199	115	SUCCESS
ZNF720	124411	.	GRCh37	16	31765441	31765441	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	11	0	ENST00000316491.9:c.361+220A>G		p.*121*	ENST00000316491	NM_001130913.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45473.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTGACTTAG	NONE	.	.	.	.	.	ENSP00000319222	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316491	Transcript	.	.	ENSG00000197302	26987	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN720_HUMAN	ZNF720	HGNC	.	.	UPI000003603E	SNV	ZNF720,missense_variant,p.Asp124Gly,ENST00000398696,;ZNF720,intron_variant,,ENST00000539915,;ZNF720,intron_variant,,ENST00000316491,;ZNF720,intron_variant,,ENST00000399681,;ZNF720,intron_variant,,ENST00000529515,;ZNF720,intron_variant,,ENST00000534369,;ZNF720,downstream_gene_variant,,ENST00000530881,;ZNF720,intron_variant,,ENST00000544044,;ZNF720,intron_variant,,ENST00000542684,;ZNF720,intron_variant,,ENST00000533488,;ZNF720,intron_variant,,ENST00000531864,;ZNF720,3_prime_UTR_variant,,ENST00000529943,;ZNF720,intron_variant,,ENST00000534277,;ZNF720,intron_variant,,ENST00000398707,;	.	11	16	SUCCESS
ZNF174	7727	.	GRCh37	16	3458764	3458764	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753184330	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	124	0	ENST00000268655.4:c.1069G>A	p.Gly357Arg	p.G357R	ENST00000268655	NM_003450.2	357	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10504.1	1069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCGGAGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF10,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000268655	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000268655	Transcript	.	.	ENSG00000103343	12963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated(0.36)	.	ZN174_HUMAN	ZNF174	HGNC	.	.	UPI000013C309	SNV	ZNF174,missense_variant,p.Gly357Arg,ENST00000571936,;ZNF174,missense_variant,p.Gly357Arg,ENST00000268655,;ZNF174,downstream_gene_variant,,ENST00000344823,;ZNF174,downstream_gene_variant,,ENST00000575752,;ZNF174,downstream_gene_variant,,ENST00000572544,;NAA60,intron_variant,,ENST00000575785,;	1654	124	73	SUCCESS
SIAH1	6477	.	GRCh37	16	48395984	48395984	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	129	0	ENST00000380006.2:c.356A>C	p.Glu119Ala	p.E119A	ENST00000380006		119	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS32444.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTCTTCA	NONE	.	.	Superfamily_domains:SSF49599,Gene3D:1k2fA02,Pfam_domain:PF03145,hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23,PROSITE_profiles:PS51081	.	.	ENSP00000349156	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000356721	Transcript	.	.	ENSG00000196470	10857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.13)	.	SIAH1_HUMAN	SIAH1	HGNC	H3BU09_HUMAN	.	UPI0000074729	SNV	SIAH1,missense_variant,p.Glu119Ala,ENST00000380006,;SIAH1,missense_variant,p.Glu119Ala,ENST00000394725,;SIAH1,missense_variant,p.Glu150Ala,ENST00000356721,;LONP2,3_prime_UTR_variant,,ENST00000565867,;LONP2,downstream_gene_variant,,ENST00000285737,;SIAH1,downstream_gene_variant,,ENST00000563745,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,downstream_gene_variant,,ENST00000573005,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,missense_variant,p.Glu119Ala,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,downstream_gene_variant,,ENST00000565185,;	873	129	82	SUCCESS
CDH11	1009	.	GRCh37	16	65016064	65016064	+	synonymous_variant	Silent	SNP	G	G	A	rs1567506882	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	39	120	0	ENST00000268603.4:c.1140C>T	p.Pro380=	p.P380=	ENST00000268603	NM_001797.2	380	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10803.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGGGGCTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268603	.	8/13	.	.	.	.	.	.	.	.	COSM1378745	8/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,synonymous_variant,p.%3D,ENST00000268603,;CDH11,synonymous_variant,p.%3D,ENST00000566827,;	1756	120	53	SUCCESS
AARS	0	.	GRCh37	16	70299543	70299543	+	synonymous_variant	Silent	SNP	A	A	G	rs755334113	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	30	121	0	ENST00000261772.8:c.1245T>C	p.Tyr415=	p.Y415=	ENST00000261772	NM_001605.2	415	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS32474.1	1245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCATAGAG	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344,Pfam_domain:PF01411,Superfamily_domains:0049182	.	.	ENSP00000261772	.	10/21	.	.	.	.	.	.	.	.	rs755334113	10/21	PASS	ENST00000261772	Transcript	.	.	ENSG00000090861	20	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYAC_HUMAN	AARS	HGNC	.	.	UPI0000169F0B	SNV	AARS,synonymous_variant,p.%3D,ENST00000261772,;AARS,upstream_gene_variant,,ENST00000565361,;RN7SL407P,upstream_gene_variant,,ENST00000583724,;AARS,non_coding_transcript_exon_variant,,ENST00000569790,;AARS,upstream_gene_variant,,ENST00000564359,;AARS,upstream_gene_variant,,ENST00000566969,;AARS,upstream_gene_variant,,ENST00000567490,;	1389	121	41	SUCCESS
TOP3A	7156	.	GRCh37	17	18193874	18193874	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	48	0	ENST00000321105.5:c.1594A>T	p.Ile532Phe	p.I532F	ENST00000321105	NM_004618.3	532	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS11194.1	1594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATGCCAT	NONE	.	.	hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Gene3D:1.10.460.10,Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712,Prints_domain:PR00417	.	.	ENSP00000321636	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000321105	Transcript	.	.	ENSG00000177302	11992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TOP3A_HUMAN	TOP3A	HGNC	B4DSJ0_HUMAN,A8K398_HUMAN	.	UPI00001371A0	SNV	TOP3A,missense_variant,p.Ile507Phe,ENST00000580095,;TOP3A,missense_variant,p.Ile62Phe,ENST00000540524,;TOP3A,missense_variant,p.Ile532Phe,ENST00000321105,;TOP3A,missense_variant,p.Ile437Phe,ENST00000542570,;TOP3A,missense_variant,p.Ile68Phe,ENST00000582122,;TOP3A,3_prime_UTR_variant,,ENST00000581536,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583804,;TOP3A,intron_variant,,ENST00000469739,;	1809	48	28	SUCCESS
TBC1D28	254272	.	GRCh37	17	18541690	18541690	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758826020	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	140	0	ENST00000345096.4:c.323G>A	p.Gly108Asp	p.G108D	ENST00000345096		108	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS42273.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCCCGC	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF242,Pfam_domain:PF00566,Gene3D:2qq8A02,Superfamily_domains:SSF47923	.	.	ENSP00000339973	.	7/9	.	.	.	.	.	.	.	.	rs758826020	7/9	PASS	ENST00000345096	Transcript	.	.	ENSG00000189375	26858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	TBC28_HUMAN	TBC1D28	HGNC	I3L4T3_HUMAN,I3L197_HUMAN	.	UPI0000251DA5	SNV	TBC1D28,missense_variant,p.Gly108Asp,ENST00000345096,;TBC1D28,missense_variant,p.Gly108Asp,ENST00000405044,;TBC1D28,downstream_gene_variant,,ENST00000575211,;TBC1D28,downstream_gene_variant,,ENST00000573652,;TBC1D28,downstream_gene_variant,,ENST00000572213,;TBC1D28,downstream_gene_variant,,ENST00000575220,;TBC1D28,downstream_gene_variant,,ENST00000575970,;TBC1D28,downstream_gene_variant,,ENST00000579178,;TBC1D28,downstream_gene_variant,,ENST00000575570,;TBC1D28,downstream_gene_variant,,ENST00000570881,;RP11-815I9.3,upstream_gene_variant,,ENST00000571884,;	1023	140	112	SUCCESS
MAPK7	5598	.	GRCh37	17	19284705	19284705	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	83	0	ENST00000308406.5:c.1183A>T	p.Ile395Phe	p.I395F	ENST00000308406	NM_139033.2	395	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11206.1	1183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCATCCGC	NONE	.	.	hmmpanther:PTHR24055:SF7,hmmpanther:PTHR24055	.	.	ENSP00000311005	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.34)	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,missense_variant,p.Ile395Phe,ENST00000395602,;MAPK7,missense_variant,p.Ile395Phe,ENST00000395604,;MAPK7,missense_variant,p.Ile395Phe,ENST00000308406,;MAPK7,missense_variant,p.Ile256Phe,ENST00000299612,;MFAP4,downstream_gene_variant,,ENST00000395592,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,intron_variant,,ENST00000573417,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000572716,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572853,;	1569	83	38	SUCCESS
MLLT6	4302	.	GRCh37	17	36868254	36868254	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	167	0	ENST00000325718.7:c.707G>C	p.Arg236Thr	p.R236T	ENST00000325718	NM_005937.3	236	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS11327.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGAGGGGCC	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF82	.	.	ENSP00000316426	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000325718	Transcript	.	.	ENSG00000108292	7138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	AF17_HUMAN	MLLT6	HGNC	.	.	UPI000013C86A	SNV	MLLT6,missense_variant,p.Arg236Thr,ENST00000378137,;MLLT6,missense_variant,p.Arg236Thr,ENST00000325718,;CTB-58E17.9,downstream_gene_variant,,ENST00000579499,;MLLT6,downstream_gene_variant,,ENST00000579179,;MLLT6,non_coding_transcript_exon_variant,,ENST00000466997,;MLLT6,non_coding_transcript_exon_variant,,ENST00000578946,;MLLT6,downstream_gene_variant,,ENST00000464666,;	798	167	105	SUCCESS
STAC2	342667	.	GRCh37	17	37371219	37371219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	75	0	ENST00000333461.5:c.757G>T	p.Gly253Trp	p.G253W	ENST00000333461	NM_198993.3	253	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS11335.1	757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCTCCT	NONE	.	.	hmmpanther:PTHR15135:SF5,hmmpanther:PTHR15135	.	.	ENSP00000327509	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000333461	Transcript	.	.	ENSG00000141750	23990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.02)	.	STAC2_HUMAN	STAC2	HGNC	D0IN09_HUMAN	.	UPI0000223E4D	SNV	STAC2,missense_variant,p.Gly253Trp,ENST00000333461,;STAC2,3_prime_UTR_variant,,ENST00000584501,;	1127	75	56	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43545720	43545720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	151	0	ENST00000430334.3:c.1163A>G	p.Gln388Arg	p.Q388R	ENST00000430334	NM_014798.2	388	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32671.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGCTGT	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5	.	.	ENSP00000389913	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000430334	Transcript	.	.	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.2)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Gln299Arg,ENST00000421073,;PLEKHM1,missense_variant,p.Gln388Arg,ENST00000430334,;AC091132.1,downstream_gene_variant,,ENST00000433601,;RN7SL730P,downstream_gene_variant,,ENST00000583727,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000582119,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,intron_variant,,ENST00000581448,;	1297	151	95	SUCCESS
RP11-112H10.4	0	.	GRCh37	17	56620661	56620661	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	51	161	0	ENST00000580769.1:n.150-157A>T		p.*50*	ENST00000580769		296		0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS32691.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGAAGAGAC	NONE	.	.	Pfam_domain:PF15548	.	.	ENSP00000354874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000321691	Transcript	.	.	ENSG00000181013	26844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.53)	.	CQ047_HUMAN	C17orf47	HGNC	.	.	UPI0000140BFA	SNV	C17orf47,missense_variant,p.Leu296His,ENST00000321691,;SEPT4,upstream_gene_variant,,ENST00000457347,;SEPT4,upstream_gene_variant,,ENST00000412945,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,intron_variant,,ENST00000578022,;RP11-112H10.4,intron_variant,,ENST00000580769,;SEPT4,upstream_gene_variant,,ENST00000581921,;	1069	161	179	SUCCESS
BCAS3	54828	.	GRCh37	17	59445783	59445783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	71	0	ENST00000390652.5:c.2566G>A	p.Glu856Lys	p.E856K	ENST00000390652	NM_001099432.1	856	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45749.1	2566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGAGGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13268	.	.	ENSP00000375067	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000390652	Transcript	.	.	ENSG00000141376	14347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	tolerated(0.21)	.	BCAS3_HUMAN	BCAS3	HGNC	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN	.	UPI00001AE949	SNV	BCAS3,missense_variant,p.Glu841Lys,ENST00000589222,;BCAS3,missense_variant,p.Glu841Lys,ENST00000408905,;BCAS3,missense_variant,p.Glu856Lys,ENST00000588462,;BCAS3,missense_variant,p.Glu856Lys,ENST00000390652,;BCAS3,missense_variant,p.Glu627Lys,ENST00000585744,;BCAS3,missense_variant,p.Glu841Lys,ENST00000407086,;BCAS3,missense_variant,p.Glu612Lys,ENST00000588874,;BCAS3,downstream_gene_variant,,ENST00000587002,;RP11-332H18.5,intron_variant,,ENST00000585765,;BCAS3,non_coding_transcript_exon_variant,,ENST00000592702,;BCAS3,non_coding_transcript_exon_variant,,ENST00000585812,;BCAS3,non_coding_transcript_exon_variant,,ENST00000587294,;BCAS3,non_coding_transcript_exon_variant,,ENST00000588569,;BCAS3,downstream_gene_variant,,ENST00000585979,;	2597	71	72	SUCCESS
CSHL1	1444	.	GRCh37	17	61987909	61987909	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	49	164	0	ENST00000309894.5:c.191-14C>T		p.*64*	ENST00000309894	NM_022579.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAGGACCC	NONE	.	.	.	.	.	ENSP00000309524	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309894	Transcript	.	.	ENSG00000204414	2442	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSHL_HUMAN	CSHL1	HGNC	I6L999_HUMAN	.	UPI00001602B9	SNV	CSHL1,missense_variant,p.Pro129Leu,ENST00000392824,;CSHL1,intron_variant,,ENST00000259003,;CSHL1,intron_variant,,ENST00000561003,;CSHL1,intron_variant,,ENST00000450719,;CSHL1,intron_variant,,ENST00000309894,;CSHL1,intron_variant,,ENST00000346606,;CSHL1,intron_variant,,ENST00000438387,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	.	164	159	SUCCESS
NPTX1	4884	.	GRCh37	17	78450179	78450179	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs752439399	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	28	0	ENST00000306773.4:c.68A>T	p.Gln23Leu	p.Q23L	ENST00000306773	NM_002522.3	23	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32762.1	68	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTGGGCC	NONE	.	.	hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF24	.	.	ENSP00000307549	.	1/5	.	.	.	.	.	.	.	.	rs752439399	1/5	PASS	ENST00000306773	Transcript	.	.	ENSG00000171246	7952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious(0.04)	.	NPTX1_HUMAN	NPTX1	HGNC	.	.	UPI000013EB88	SNV	NPTX1,missense_variant,p.Gln23Leu,ENST00000306773,;NPTX1,intron_variant,,ENST00000575212,;NPTX1,upstream_gene_variant,,ENST00000535681,;NPTX1,upstream_gene_variant,,ENST00000571100,;	226	28	38	SUCCESS
MC4R	4160	.	GRCh37	18	58039130	58039130	+	synonymous_variant	Silent	SNP	G	G	A	rs142925940	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	91	0	ENST00000299766.3:c.453C>T	p.Ile151=	p.I151=	ENST00000299766	NM_005912.2	151	atC/atT	0	A:0.0002	.	.	.	.	A	I	protein_coding	YES	CCDS11976.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAAGATAGT	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	.	A:0	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	rs142925940	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,synonymous_variant,p.%3D,ENST00000299766,;	872	91	61	SUCCESS
CDH7	1005	.	GRCh37	18	63530135	63530135	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	92	0	ENST00000323011.3:c.1846T>A	p.Cys616Ser	p.C616S	ENST00000323011	NM_033646.1	616	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS11993.1	1846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTGTGTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91	.	.	ENSP00000381058	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious(0.04)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Cys616Ser,ENST00000397968,;CDH7,missense_variant,p.Cys616Ser,ENST00000536984,;CDH7,missense_variant,p.Cys616Ser,ENST00000323011,;RP11-389J22.1,upstream_gene_variant,,ENST00000581987,;	2272	92	61	SUCCESS
ABCA7	10347	.	GRCh37	19	1052055	1052055	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530537679	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	58	0	ENST00000263094.6:c.3077G>A	p.Arg1026His	p.R1026H	ENST00000263094	NM_019112.3	1026	cGc/cAc	0	.	A:0	.	A:0.0014	.	A	R/H	protein_coding	YES	CCDS12055.1	3077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGCCGTC	NONE	by1000G	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300	A:0	.	ENSP00000263094	A:0	22/47	.	.	.	.	.	.	.	.	rs530537679	22/47	PASS	ENST00000263094	Transcript	.	A:0.0002	ENSG00000064687	37	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	A:0	deleterious(0.01)	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,missense_variant,p.Arg1026His,ENST00000433129,;ABCA7,missense_variant,p.Arg1026His,ENST00000263094,;ABCA7,missense_variant,p.Arg888His,ENST00000435683,;ABCA7,upstream_gene_variant,,ENST00000525073,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000532194,;ABCA7,upstream_gene_variant,,ENST00000529442,;ABCA7,upstream_gene_variant,,ENST00000530092,;	3308	58	46	SUCCESS
SLC1A6	6511	.	GRCh37	19	15063777	15063777	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	178	0	ENST00000221742.3:c.1462G>T	p.Glu488Ter	p.E488*	ENST00000221742	NM_005071.2	488	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12321.1	1462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTCCGTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221,Prints_domain:PR00173	.	.	ENSP00000221742	.	8/9	.	.	.	.	.	.	.	.	COSM3891682	8/9	PASS	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,stop_gained,p.Glu410Ter,ENST00000600144,;SLC1A6,stop_gained,p.Glu488Ter,ENST00000221742,;SLC1A6,stop_gained,p.Glu424Ter,ENST00000430939,;	1470	178	129	SUCCESS
ZNF101	94039	.	GRCh37	19	19790802	19790802	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	88	0	ENST00000318110.5:c.1004A>G	p.Glu335Gly	p.E335G	ENST00000318110		335	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32971.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGAAAGAC	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000468049	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000592502	Transcript	.	.	ENSG00000181896	12881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	deleterious(0.01)	.	ZN101_HUMAN	ZNF101	HGNC	Q96F93_HUMAN,Q0VDG9_HUMAN,K7ENV8_HUMAN	.	UPI0000074138	SNV	ZNF101,missense_variant,p.Glu215Gly,ENST00000415784,;ZNF101,missense_variant,p.Glu335Gly,ENST00000592502,;ZNF101,3_prime_UTR_variant,,ENST00000444249,;ZNF101,downstream_gene_variant,,ENST00000541458,;ZNF101,upstream_gene_variant,,ENST00000586745,;ZNF101,missense_variant,p.Glu335Gly,ENST00000318110,;ZNF101,missense_variant,p.Glu46Gly,ENST00000585565,;ZNF101,non_coding_transcript_exon_variant,,ENST00000415440,;	1114	88	74	SUCCESS
ZNF492	57615	.	GRCh37	19	22836116	22836116	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	188	161	406	0	ENST00000456783.2:c.-86T>A		p.*29*	ENST00000456783	NM_020855.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTTGACAT	NONE	.	.	.	.	.	ENSP00000413660	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,5_prime_UTR_variant,,ENST00000456783,;	159	406	349	SUCCESS
ZNF536	9745	.	GRCh37	19	31038966	31038966	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	56	159	0	ENST00000355537.3:c.2440G>T	p.Gly814Trp	p.G814W	ENST00000355537	NM_014717.1	814	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS32984.1	2440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGGGCAA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly814Trp,ENST00000585628,;ZNF536,missense_variant,p.Gly814Trp,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2587	159	120	SUCCESS
ZNF536	9745	.	GRCh37	19	31038967	31038967	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	53	159	0	ENST00000355537.3:c.2441G>T	p.Gly814Val	p.G814V	ENST00000355537	NM_014717.1	814	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32984.1	2441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGGCAAC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	COSM1392473,COSM3970889	4/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.619)	.	deleterious(0)	1,1	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly814Val,ENST00000585628,;ZNF536,missense_variant,p.Gly814Val,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2588	159	117	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768760	31768760	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	68	0	ENST00000240587.4:c.1939A>C	p.Ser647Arg	p.S647R	ENST00000240587	NM_020856.2	647	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS12421.2	1939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTACATG	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.37)	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,missense_variant,p.Ser647Arg,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2267	68	45	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36269405	36269405	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374221923	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	53	0	ENST00000314737.5:c.310C>T	p.Arg104Cys	p.R104C	ENST00000314737	NM_052948.3	104	Cgt/Tgt	0	T:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS12477.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCGTTCC	NONE	byCluster	.	Superfamily_domains:SSF64268,Gene3D:3.30.1520.10,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	.	T:0	ENSP00000320038	.	5/21	.	.	.	.	.	.	.	.	rs374221923	5/21	PASS	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	tolerated_low_confidence(0.1)	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,missense_variant,p.Arg104Cys,ENST00000007510,;ARHGAP33,missense_variant,p.Arg104Cys,ENST00000314737,;ARHGAP33,5_prime_UTR_variant,,ENST00000378944,;ARHGAP33,upstream_gene_variant,,ENST00000587447,;ARHGAP33,upstream_gene_variant,,ENST00000588248,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000221905,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000589133,;ARHGAP33,upstream_gene_variant,,ENST00000591438,;ARHGAP33,intron_variant,,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000586918,;	394	53	34	SUCCESS
PIP5K1C	23396	.	GRCh37	19	3648626	3648626	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	158	0	ENST00000335312.3:c.1208A>T	p.Tyr403Phe	p.Y403F	ENST00000335312	NM_012398.2	403	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32872.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTAGGAC	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF26,Pfam_domain:PF01504,Gene3D:1bo1A02,SMART_domains:SM00330,Superfamily_domains:SSF56104	.	.	ENSP00000335333	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000335312	Transcript	1	.	ENSG00000186111	8996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0.02)	.	PI51C_HUMAN	PIP5K1C	HGNC	Q7LE22_HUMAN	.	UPI000019C574	SNV	PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000589578,;PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000539785,;PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000537021,;PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000335312,;PIP5K1C,non_coding_transcript_exon_variant,,ENST00000592530,;PIP5K1C,downstream_gene_variant,,ENST00000587482,;	1297	158	98	SUCCESS
ZNF793	390927	.	GRCh37	19	38024278	38024278	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766584030	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	53	126	0	ENST00000445217.1:c.211G>A	p.Ala71Thr	p.A71T	ENST00000445217		71	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46062.1	211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGCAGCA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42	.	.	ENSP00000396402	.	3/4	.	.	.	.	.	.	.	.	rs766584030	3/4	PASS	ENST00000445217	Transcript	.	.	ENSG00000188227	33115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.5)	.	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	SNV	ZNF793,missense_variant,p.Ala71Thr,ENST00000587143,;ZNF793,missense_variant,p.Ala71Thr,ENST00000542455,;ZNF793,missense_variant,p.Ala64Thr,ENST00000587490,;ZNF793,missense_variant,p.Ala71Thr,ENST00000589319,;ZNF793,missense_variant,p.Ala71Thr,ENST00000588578,;ZNF793,missense_variant,p.Ala71Thr,ENST00000587986,;ZNF793,missense_variant,p.Ala71Thr,ENST00000445217,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,missense_variant,p.Ala24Thr,ENST00000586187,;	246	126	115	SUCCESS
ZFR2	23217	.	GRCh37	19	3820200	3820200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	75	0	ENST00000262961.4:c.1720C>A	p.Pro574Thr	p.P574T	ENST00000262961	NM_015174.1	574	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45921.1	1720	RADIA|MUTECT|MUSE	.	GGCGGGTGACT	NONE	.	.	PROSITE_profiles:PS51703,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85	.	.	ENSP00000262961	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.566)	.	deleterious(0)	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,missense_variant,p.Pro574Thr,ENST00000262961,;ZFR2,downstream_gene_variant,,ENST00000438164,;	1731	75	46	SUCCESS
SERTAD3	29946	.	GRCh37	19	40947776	40947776	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	44	0	ENST00000322354.3:c.212T>A	p.Leu71Gln	p.L71Q	ENST00000322354	NM_203344.2	71	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12558.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGGCGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51053,hmmpanther:PTHR15530,hmmpanther:PTHR15530:SF0	.	.	ENSP00000325414	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322354	Transcript	.	.	ENSG00000167565	17931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	SRTD3_HUMAN	SERTAD3	HGNC	M0R352_HUMAN,M0QXL4_HUMAN	.	UPI0000072807	SNV	SERTAD3,missense_variant,p.Leu71Gln,ENST00000392028,;SERTAD3,missense_variant,p.Leu71Gln,ENST00000599706,;SERTAD3,missense_variant,p.Leu71Gln,ENST00000322354,;SERTAD3,missense_variant,p.Leu71Gln,ENST00000596456,;CTC-492K19.4,upstream_gene_variant,,ENST00000599050,;SERTAD3,upstream_gene_variant,,ENST00000601217,;	709	44	35	SUCCESS
DMRTC2	63946	.	GRCh37	19	42353305	42353305	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782270178	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	56	0	ENST00000269945.3:c.740del	p.Pro247LeufsTer10	p.P247Lfs*10	ENST00000269945	NM_001040283.1	246	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS33034.1	736	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGGGCCCCCT	NONE	.	.	hmmpanther:PTHR12322:SF12,hmmpanther:PTHR12322	.	.	ENSP00000269945	.	6/9	.	.	.	.	.	.	.	.	rs782270178,COSM4154225	6/9	PASS	ENST00000269945	Transcript	.	.	ENSG00000142025	13911	4	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	DMRTD_HUMAN	DMRTC2	HGNC	M0R2D7_HUMAN,M0R1Z9_HUMAN,M0QZH7_HUMAN	.	UPI0000071B2A	deletion	DMRTC2,frameshift_variant,p.Pro247LeufsTer10,ENST00000269945,;DMRTC2,frameshift_variant,p.Pro247LeufsTer10,ENST00000596827,;LYPD4,upstream_gene_variant,,ENST00000330743,;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,downstream_gene_variant,,ENST00000600017,;DMRTC2,downstream_gene_variant,,ENST00000596258,;DMRTC2,downstream_gene_variant,,ENST00000596660,;DMRTC2,downstream_gene_variant,,ENST00000602098,;DMRTC2,3_prime_UTR_variant,,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;	787	56	81	SUCCESS
ZNF180	7733	.	GRCh37	19	44981527	44981527	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	91	0	ENST00000221327.4:c.1171A>C	p.Ser391Arg	p.S391R	ENST00000221327	NM_013256.4	391	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS12639.1	1171	RADIA|MUTECT|MUSE	.	CCGGCTGAAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221327	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000221327	Transcript	.	.	ENSG00000167384	12970	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.493)	.	tolerated(0.38)	.	ZN180_HUMAN	ZNF180	HGNC	K7EQX9_HUMAN,K7EQP0_HUMAN	.	UPI000013C7BD	SNV	ZNF180,missense_variant,p.Ser364Arg,ENST00000592529,;ZNF180,missense_variant,p.Ser366Arg,ENST00000391956,;ZNF180,missense_variant,p.Ser391Arg,ENST00000221327,;ZNF180,downstream_gene_variant,,ENST00000587047,;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,downstream_gene_variant,,ENST00000591064,;AC069278.4,upstream_gene_variant,,ENST00000591684,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,3_prime_UTR_variant,,ENST00000592095,;ZNF180,3_prime_UTR_variant,,ENST00000590088,;ZNF285B,downstream_gene_variant,,ENST00000561698,;ZNF285B,downstream_gene_variant,,ENST00000318605,;	1453	91	77	SUCCESS
PTGIR	5739	.	GRCh37	19	47124692	47124692	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs916113670	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	47	135	0	ENST00000291294.2:c.1006C>T	p.Pro336Ser	p.P336S	ENST00000291294	NM_000960.3	336	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12686.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGGGCCC	NONE	.	.	hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF7	.	.	ENSP00000291294	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000291294	Transcript	.	.	ENSG00000160013	9602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated_low_confidence(0.07)	.	PI2R_HUMAN	PTGIR	HGNC	M0QZW0_HUMAN,M0QZI2_HUMAN,M0QXV5_HUMAN	.	UPI000005042B	SNV	PTGIR,missense_variant,p.Pro65Ser,ENST00000597185,;PTGIR,missense_variant,p.Pro93Ser,ENST00000594275,;PTGIR,missense_variant,p.Pro124Ser,ENST00000598865,;PTGIR,missense_variant,p.Pro336Ser,ENST00000291294,;PTGIR,downstream_gene_variant,,ENST00000596260,;PTGIR,downstream_gene_variant,,ENST00000595460,;	1140	135	98	SUCCESS
EMP3	2014	.	GRCh37	19	48833658	48833658	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	42	0	ENST00000270221.6:c.423G>T	p.Leu141=	p.L141=	ENST00000270221	NM_001425.2	141	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12715.1	423	MUTECT|MUSE	.	GCCCTGGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01453,Pfam_domain:PF00822,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF8	.	.	ENSP00000270221	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000270221	Transcript	.	.	ENSG00000142227	3335	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EMP3_HUMAN	EMP3	HGNC	M0R1L9_HUMAN,M0QZ66_HUMAN,M0QXS0_HUMAN	.	UPI0000129EAB	SNV	EMP3,missense_variant,p.Gly121Cys,ENST00000593437,;EMP3,synonymous_variant,p.%3D,ENST00000597279,;EMP3,synonymous_variant,p.%3D,ENST00000270221,;EMP3,synonymous_variant,p.%3D,ENST00000596315,;TMEM143,downstream_gene_variant,,ENST00000541566,;TMEM143,downstream_gene_variant,,ENST00000293261,;EMP3,downstream_gene_variant,,ENST00000594198,;EMP3,downstream_gene_variant,,ENST00000599704,;TMEM143,downstream_gene_variant,,ENST00000436660,;TMEM143,downstream_gene_variant,,ENST00000377431,;TMEM143,downstream_gene_variant,,ENST00000435956,;EMP3,3_prime_UTR_variant,,ENST00000599255,;EMP3,non_coding_transcript_exon_variant,,ENST00000597057,;TMEM143,downstream_gene_variant,,ENST00000600816,;EMP3,downstream_gene_variant,,ENST00000597529,;	724	42	34	SUCCESS
CACNG8	59283	.	GRCh37	19	54485674	54485674	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	19	0	ENST00000270458.2:c.849G>T	p.Pro283=	p.P283=	ENST00000270458	NM_031895.5	283	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33104.1	849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGTCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF2	.	.	ENSP00000270458	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270458	Transcript	.	.	ENSG00000142408	13628	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCG8_HUMAN	CACNG8	HGNC	.	.	UPI000013D88B	SNV	CACNG8,synonymous_variant,p.%3D,ENST00000270458,;MIR935,downstream_gene_variant,,ENST00000401179,;	952	19	22	SUCCESS
ZNF773	374928	.	GRCh37	19	58018610	58018610	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	206	0	ENST00000282292.4:c.1147G>C	p.Gly383Arg	p.G383R	ENST00000282292	NM_198542.1	383	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS33134.1	1147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTGGAGAA	BUFFER|p.K385K|c.1155A>G|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF40,hmmpanther:PTHR24387,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000282292	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282292	Transcript	.	.	ENSG00000152439	30487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN773_HUMAN	ZNF773	HGNC	.	.	UPI00001BD93D	SNV	ZNF773,missense_variant,p.Gly383Arg,ENST00000282292,;ZNF773,missense_variant,p.Gly382Arg,ENST00000598770,;ZNF773,intron_variant,,ENST00000593916,;ZNF773,intron_variant,,ENST00000599847,;ZNF773,intron_variant,,ENST00000597061,;AC003005.4,downstream_gene_variant,,ENST00000599674,;AC003005.4,downstream_gene_variant,,ENST00000601674,;ZNF773,downstream_gene_variant,,ENST00000601958,;	1287	206	124	SUCCESS
MUC16	94025	.	GRCh37	19	9074549	9074549	+	synonymous_variant	Silent	SNP	A	A	T	rs1220252762	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	22	95	1	ENST00000397910.4:c.12897T>A	p.Ile4299=	p.I4299=	ENST00000397910	NM_024690.2	4299	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS54212.1	12897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCAATCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	13101	96	28	SUCCESS
SLC25A24	29957	.	GRCh37	1	108686249	108686249	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	25	107	0	ENST00000565488.1:c.1014A>G	p.Glu338=	p.E338=	ENST00000565488	NM_013386.4	338	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS41361.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTTCATG	NONE	.	.	Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF262,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	.	.	ENSP00000457733	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000565488	Transcript	.	.	ENSG00000085491	20662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCMC1_HUMAN	SLC25A24	HGNC	.	.	UPI0000206111	SNV	SLC25A24,synonymous_variant,p.%3D,ENST00000565488,;SLC25A24,synonymous_variant,p.%3D,ENST00000370041,;SLC25A24,3_prime_UTR_variant,,ENST00000264128,;	1234	107	131	SUCCESS
RAP1A	5906	.	GRCh37	1	112247100	112247100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	52	93	0	ENST00000356415.1:c.460G>A	p.Val154Ile	p.V154I	ENST00000356415		154	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS840.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGTTAAT	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF239,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000358723	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000369709	Transcript	.	.	ENSG00000116473	9855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.1)	.	RAP1A_HUMAN	RAP1A	HGNC	F8WBC0_HUMAN,A8KAH9_HUMAN	.	UPI0000001250	SNV	RAP1A,missense_variant,p.Val154Ile,ENST00000436150,;RAP1A,missense_variant,p.Val154Ile,ENST00000356415,;RAP1A,missense_variant,p.Val154Ile,ENST00000545460,;RAP1A,missense_variant,p.Val154Ile,ENST00000369709,;RAP1A,downstream_gene_variant,,ENST00000433097,;RAP1A,non_coding_transcript_exon_variant,,ENST00000494982,;FAM212B,intron_variant,,ENST00000527570,;	639	93	141	SUCCESS
SV2A	9900	.	GRCh37	1	149879627	149879627	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	48	155	0	ENST00000369146.3:c.1511A>T	p.Gln504Leu	p.Q504L	ENST00000369146	NM_014849.4	504	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS940.1	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTGATTC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24065:SF4,hmmpanther:PTHR24065,TIGRFAM_domain:TIGR01299,Superfamily_domains:SSF141571	.	.	ENSP00000358142	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000369146	Transcript	.	.	ENSG00000159164	20566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0.04)	.	SV2A_HUMAN	SV2A	HGNC	.	.	UPI000000DAD2	SNV	SV2A,missense_variant,p.Gln504Leu,ENST00000369145,;SV2A,missense_variant,p.Gln504Leu,ENST00000369146,;	2002	155	182	SUCCESS
CRNN	49860	.	GRCh37	1	152382364	152382364	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	76	0	ENST00000271835.3:c.1194A>T	p.Thr398=	p.T398=	ENST00000271835	NM_016190.2	398	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1010.1	1194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACTGTCTC	NONE	.	.	hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639	.	.	ENSP00000271835	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000271835	Transcript	.	.	ENSG00000143536	1230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRNN_HUMAN	CRNN	HGNC	.	.	UPI000006E106	SNV	CRNN,synonymous_variant,p.%3D,ENST00000271835,;RP1-91G5.3,intron_variant,,ENST00000411804,;	1257	76	72	SUCCESS
LENEP	55891	.	GRCh37	1	154966209	154966209	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	52	0	ENST00000368427.3:c.126C>A	p.Thr42=	p.T42=	ENST00000368427	NM_018655.2	42	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1080.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACCCTGAA	NONE	.	.	Pfam_domain:PF15221,hmmpanther:PTHR16968	.	.	ENSP00000376278	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392487	Transcript	.	.	ENSG00000163352	14429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LENEP_HUMAN	LENEP	HGNC	.	.	UPI000012E198	SNV	LENEP,synonymous_variant,p.%3D,ENST00000392487,;FLAD1,downstream_gene_variant,,ENST00000315144,;FLAD1,downstream_gene_variant,,ENST00000368433,;FLAD1,downstream_gene_variant,,ENST00000405236,;FLAD1,downstream_gene_variant,,ENST00000368432,;FLAD1,downstream_gene_variant,,ENST00000368431,;FLAD1,downstream_gene_variant,,ENST00000295530,;FLAD1,downstream_gene_variant,,ENST00000368428,;FLAD1,downstream_gene_variant,,ENST00000292180,;FLAD1,downstream_gene_variant,,ENST00000489992,;FLAD1,downstream_gene_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000481758,;LENEP,synonymous_variant,p.%3D,ENST00000368427,;	146	52	56	SUCCESS
DUSP27	0	.	GRCh37	1	167096126	167096126	+	synonymous_variant	Silent	SNP	G	G	C	rs144793075	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	84	0	ENST00000361200.2:c.1758G>C	p.Leu586=	p.L586=	ENST00000361200		586	ctG/ctC	0	T:0.0002	.	.	.	.	C	L	protein_coding	YES	CCDS30932.1	1758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTGACAGC	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	T:0	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs144793075	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1924	84	107	SUCCESS
RABGAP1L	9910	.	GRCh37	1	174769333	174769333	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	35	0	ENST00000251507.4:c.2212-11637A>G		p.*738*	ENST00000251507	NM_014857.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1314.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACATTAGC	NONE	.	.	.	.	.	ENSP00000251507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251507	Transcript	.	.	ENSG00000152061	24663	.	.	MODIFIER	18/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBG1L_HUMAN	RABGAP1L	HGNC	F1LJ00_HUMAN	.	UPI0000458A9F	SNV	RABGAP1L,5_prime_UTR_variant,,ENST00000489615,;RABGAP1L,intron_variant,,ENST00000325589,;RABGAP1L,intron_variant,,ENST00000251507,;RABGAP1L,intron_variant,,ENST00000347255,;RABGAP1L,intron_variant,,ENST00000367687,;RABGAP1L,intron_variant,,ENST00000367686,;RABGAP1L,intron_variant,,ENST00000469553,;	.	35	22	SUCCESS
CACNA1E	777	.	GRCh37	1	181701627	181701627	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374689888	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	53	157	0	ENST00000367573.2:c.2405C>A	p.Ala802Glu	p.A802E	ENST00000367573	NM_001205293.1	802	gCg/gAg	0	T:0.0006	T:0	.	T:0	.	A	A/E	protein_coding	YES	CCDS55664.1	2405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGCCGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	T:0	T:0	ENSP00000356545	T:0	20/48	.	.	.	.	.	.	.	.	rs374689888	20/48	PASS	ENST00000367573	Transcript	.	T:0.0002	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.726)	T:0.001	tolerated(0.89)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ala734Glu,ENST00000358338,;CACNA1E,missense_variant,p.Ala409Glu,ENST00000367567,;CACNA1E,missense_variant,p.Ala753Glu,ENST00000357570,;CACNA1E,missense_variant,p.Ala783Glu,ENST00000360108,;CACNA1E,missense_variant,p.Ala783Glu,ENST00000526775,;CACNA1E,missense_variant,p.Ala802Glu,ENST00000367573,;CACNA1E,missense_variant,p.Ala802Glu,ENST00000367570,;	2405	157	173	SUCCESS
FAM43B	163933	.	GRCh37	1	20879387	20879387	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	45	0	ENST00000332947.4:c.-80T>A		p.*27*	ENST00000332947	NM_207334.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS209.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTGCGCG	NONE	.	.	.	.	.	ENSP00000331397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332947	Transcript	.	.	ENSG00000183114	31791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA43B_HUMAN	FAM43B	HGNC	.	.	UPI00001C0D42	SNV	FAM43B,5_prime_UTR_variant,,ENST00000332947,;	456	45	35	SUCCESS
HHAT	55733	.	GRCh37	1	210591627	210591627	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	43	157	0	ENST00000261458.3:c.814A>T	p.Ser272Cys	p.S272C	ENST00000261458	NM_018194.4	272	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS53471.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACAGCAGC	NONE	.	.	hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20,Pfam_domain:PF03062	.	.	ENSP00000438468	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Ser209Cys,ENST00000545781,;HHAT,missense_variant,p.Ser272Cys,ENST00000367010,;HHAT,missense_variant,p.Ser272Cys,ENST00000413764,;HHAT,missense_variant,p.Ser207Cys,ENST00000537898,;HHAT,missense_variant,p.Ser227Cys,ENST00000308852,;HHAT,missense_variant,p.Ser273Cys,ENST00000545154,;HHAT,missense_variant,p.Ser272Cys,ENST00000391905,;HHAT,missense_variant,p.Ser135Cys,ENST00000541565,;HHAT,missense_variant,p.Ser272Cys,ENST00000261458,;HHAT,missense_variant,p.Ser144Cys,ENST00000426968,;	922	157	173	SUCCESS
MORN1	79906	.	GRCh37	1	2283310	2283310	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	11	0	ENST00000378531.3:c.1036+5561G>A		p.*346*	ENST00000378531	NM_024848.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS40.1	.	MUTECT|MUSE	.	CGTTCCCCCAG	NONE	.	.	.	.	.	ENSP00000367792	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378531	Transcript	.	.	ENSG00000116151	25852	.	.	MODIFIER	10/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MORN1_HUMAN	MORN1	HGNC	.	.	UPI000007293C	SNV	MORN1,intron_variant,,ENST00000378531,;MORN1,downstream_gene_variant,,ENST00000378529,;RP4-740C4.6,non_coding_transcript_exon_variant,,ENST00000602865,;MORN1,intron_variant,,ENST00000606372,;RP4-740C4.5,upstream_gene_variant,,ENST00000417061,;	.	11	9	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232539296	232539296	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766075456	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	60	0	ENST00000262861.4:c.4838G>T	p.Cys1613Phe	p.C1613F	ENST00000262861	NM_020808.3	1613	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS41474.1	4838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCAGAAG	NONE	.	.	Pfam_domain:PF11881,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	20/22	.	.	.	.	.	.	.	.	rs766075456	20/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(1)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Cys1613Phe,ENST00000366630,;SIPA1L2,missense_variant,p.Cys669Phe,ENST00000308942,;SIPA1L2,missense_variant,p.Cys1613Phe,ENST00000262861,;SIPA1L2,non_coding_transcript_exon_variant,,ENST00000495863,;SIPA1L2,upstream_gene_variant,,ENST00000494056,;	5197	60	90	SUCCESS
ASAP3	55616	.	GRCh37	1	23759654	23759654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199574094	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	67	0	ENST00000336689.3:c.2239G>A	p.Glu747Lys	p.E747K	ENST00000336689	NM_017707.3	747	Gag/Aag	0	T:0	T:0	.	T:0	.	T	E/K	protein_coding	YES	CCDS235.1	2239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCGCCCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF211	T:0	T:0.0007	ENSP00000338769	T:0.001	22/25	.	.	.	.	.	.	.	.	rs199574094	22/25	PASS	ENST00000336689	Transcript	.	T:0.0002	ENSG00000088280	14987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	T:0	tolerated(0.28)	.	ASAP3_HUMAN	ASAP3	HGNC	H0YER8_HUMAN	.	UPI0000071371	SNV	ASAP3,missense_variant,p.Glu74Lys,ENST00000465372,;ASAP3,missense_variant,p.Glu738Lys,ENST00000437606,;ASAP3,missense_variant,p.Glu747Lys,ENST00000336689,;ASAP3,missense_variant,p.Glu251Lys,ENST00000495646,;ASAP3,3_prime_UTR_variant,,ENST00000492982,;ASAP3,downstream_gene_variant,,ENST00000484418,;ASAP3,downstream_gene_variant,,ENST00000530874,;ASAP3,downstream_gene_variant,,ENST00000475814,;	2284	67	49	SUCCESS
FMN2	56776	.	GRCh37	1	240286488	240286488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	88	0	ENST00000319653.9:c.1625T>C	p.Leu542Pro	p.L542P	ENST00000319653	NM_020066.4	542	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31069.2	1625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCTGTTGG	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Leu542Pro,ENST00000319653,;FMN2,5_prime_UTR_variant,,ENST00000447095,;	1855	88	119	SUCCESS
PLD5	200150	.	GRCh37	1	242264076	242264076	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	80	0	ENST00000442594.2:c.972T>C	p.Phe324=	p.F324=	ENST00000442594	NM_152666.2	324	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS1621.2	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCAAAAAA	NONE	.	.	hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Pfam_domain:PF13918,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000440896	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,synonymous_variant,p.%3D,ENST00000536534,;PLD5,synonymous_variant,p.%3D,ENST00000427495,;PLD5,synonymous_variant,p.%3D,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1490	80	115	SUCCESS
EFCAB2	84288	.	GRCh37	1	245250660	245250660	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	249	72	211	0	ENST00000366522.2:c.781+3670T>A		p.*261*	ENST00000366522		163		0	.	.	.	.	.	A	*/K	protein_coding	YES	CCDS31082.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTAAATG	NONE	.	.	.	.	.	ENSP00000355480	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000366523	Transcript	.	.	ENSG00000203666	28166	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB2_HUMAN	EFCAB2	HGNC	.	.	UPI000006E262	SNV	EFCAB2,stop_lost,p.Ter163LysextTer3,ENST00000366523,;EFCAB2,stop_lost,p.Ter222LysextTer3,ENST00000366521,;EFCAB2,intron_variant,,ENST00000447569,;EFCAB2,intron_variant,,ENST00000366522,;EFCAB2,downstream_gene_variant,,ENST00000551317,;EFCAB2,downstream_gene_variant,,ENST00000427529,;EFCAB2,downstream_gene_variant,,ENST00000425550,;EFCAB2,non_coding_transcript_exon_variant,,ENST00000473686,;EFCAB2,non_coding_transcript_exon_variant,,ENST00000495271,;EFCAB2,intron_variant,,ENST00000391837,;EFCAB2,intron_variant,,ENST00000487845,;EFCAB2,intron_variant,,ENST00000497591,;EFCAB2,downstream_gene_variant,,ENST00000549220,;	752	211	321	SUCCESS
ARID1A	8289	.	GRCh37	1	27102066	27102066	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	18	44	0	ENST00000324856.7:c.4994-2A>T		p.X1665_splice	ENST00000324856	NM_006015.4	1665		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS285.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCAGGAAC	NONE	.	.	.	.	.	ENSP00000320485	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	18/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,splice_acceptor_variant,,ENST00000457599,;ARID1A,splice_acceptor_variant,,ENST00000374152,;ARID1A,splice_acceptor_variant,,ENST00000430799,;ARID1A,splice_acceptor_variant,,ENST00000540690,;ARID1A,splice_acceptor_variant,,ENST00000324856,;ARID1A,splice_acceptor_variant,,ENST00000466382,;ARID1A,splice_acceptor_variant,,ENST00000532781,;	.	44	26	SUCCESS
ZMYM4	9202	.	GRCh37	1	35884069	35884069	+	synonymous_variant	Silent	SNP	A	A	G	rs758242667	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	103	0	ENST00000314607.6:c.4335A>G	p.Lys1445=	p.K1445=	ENST00000314607	NM_005095.2	1445	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS389.1	4335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAACGAAA	NONE	.	.	Pfam_domain:PF12012,hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	29/30	.	.	.	.	.	.	.	.	rs758242667,COSM908686	29/30	PASS	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,synonymous_variant,p.%3D,ENST00000457946,;ZMYM4,synonymous_variant,p.%3D,ENST00000373297,;ZMYM4,synonymous_variant,p.%3D,ENST00000314607,;	4415	103	78	SUCCESS
CCDC27	148870	.	GRCh37	1	3686347	3686347	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	67	0	ENST00000294600.2:c.1744C>A	p.Leu582Ile	p.L582I	ENST00000294600	NM_152492.2	582	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS50.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCTCGAG	NONE	.	.	hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6	.	.	ENSP00000294600	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000294600	Transcript	.	.	ENSG00000162592	26546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	CCD27_HUMAN	CCDC27	HGNC	.	.	UPI000013E186	SNV	CCDC27,missense_variant,p.Leu582Ile,ENST00000294600,;SMIM1,upstream_gene_variant,,ENST00000444870,;SMIM1,upstream_gene_variant,,ENST00000561886,;SMIM1,upstream_gene_variant,,ENST00000452264,;CCDC27,splice_region_variant,,ENST00000462521,;	1828	67	68	SUCCESS
LEPRE1	0	.	GRCh37	1	43218272	43218272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	86	0	ENST00000296388.5:c.1409A>T	p.Gln470Leu	p.Q470L	ENST00000296388		470	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS57986.1	1409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCTGGGAA	NONE	.	.	SMART_domains:SM00702,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF5	.	.	ENSP00000236040	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000236040	Transcript	.	.	ENSG00000117385	19316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.132)	.	deleterious(0.05)	.	P3H1_HUMAN	LEPRE1	HGNC	B4DTG8_HUMAN	.	UPI000013E32E	SNV	LEPRE1,missense_variant,p.Gln62Leu,ENST00000447502,;LEPRE1,missense_variant,p.Gln470Leu,ENST00000397054,;LEPRE1,missense_variant,p.Gln470Leu,ENST00000236040,;LEPRE1,missense_variant,p.Gln470Leu,ENST00000296388,;LEPRE1,upstream_gene_variant,,ENST00000462474,;LEPRE1,missense_variant,p.Gln78Leu,ENST00000431412,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000481465,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000495874,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460031,;LEPRE1,upstream_gene_variant,,ENST00000460831,;LEPRE1,downstream_gene_variant,,ENST00000463465,;	1450	86	97	SUCCESS
KLHL17	339451	.	GRCh37	1	898282	898282	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748174855	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	28	0	ENST00000338591.3:c.1027G>A	p.Val343Met	p.V343M	ENST00000338591	NM_198317.2	343	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS30550.1	1027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGTGCTT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF168,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612	.	.	ENSP00000343930	.	6/12	.	.	.	.	.	.	.	.	rs748174855	6/12	PASS	ENST00000338591	Transcript	.	.	ENSG00000187961	24023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	tolerated(0.11)	.	KLH17_HUMAN	KLHL17	HGNC	Q0VGE6_HUMAN,B3KXL7_HUMAN	.	UPI00001DFBF0	SNV	KLHL17,missense_variant,p.Val343Met,ENST00000338591,;NOC2L,upstream_gene_variant,,ENST00000327044,;PLEKHN1,upstream_gene_variant,,ENST00000379409,;PLEKHN1,upstream_gene_variant,,ENST00000379407,;PLEKHN1,upstream_gene_variant,,ENST00000379410,;NOC2L,upstream_gene_variant,,ENST00000487214,;KLHL17,missense_variant,p.Val60Met,ENST00000466300,;KLHL17,downstream_gene_variant,,ENST00000463212,;NOC2L,upstream_gene_variant,,ENST00000469563,;NOC2L,upstream_gene_variant,,ENST00000477976,;KLHL17,upstream_gene_variant,,ENST00000481067,;	1134	28	25	SUCCESS
CST9L	128821	.	GRCh37	20	23548859	23548859	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1220011256	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	77	0	ENST00000376979.3:c.229T>C	p.Trp77Arg	p.W77R	ENST00000376979	NM_080610.2	77	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS13157.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGGAAT	NONE	.	.	hmmpanther:PTHR11413:SF22,hmmpanther:PTHR11413,Pfam_domain:PF00031,Gene3D:3.10.450.10,Superfamily_domains:SSF54403	.	.	ENSP00000366178	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	.	tolerated(0.33)	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,missense_variant,p.Trp77Arg,ENST00000376979,;	528	77	94	SUCCESS
BPIFA1	51297	.	GRCh37	20	31828158	31828158	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	68	0	ENST00000354297.4:c.551del	p.Pro184LeufsTer28	p.P184Lfs*28	ENST00000354297	NM_130852.2	183	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS13217.1	548	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCATTCCCCTG	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Pfam_domain:PF01273,Superfamily_domains:SSF55394	.	.	ENSP00000346251	.	5/9	.	.	.	.	.	.	.	.	COSM3545418	5/9	PASS	ENST00000354297	Transcript	.	.	ENSG00000198183	15749	3	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	BPIA1_HUMAN	BPIFA1	HGNC	A6XMV5_HUMAN	.	UPI0000048F11	deletion	BPIFA1,frameshift_variant,p.Pro184LeufsTer28,ENST00000375413,;BPIFA1,frameshift_variant,p.Pro184LeufsTer28,ENST00000375422,;BPIFA1,frameshift_variant,p.Pro184LeufsTer28,ENST00000354297,;AL121901.1,downstream_gene_variant,,ENST00000601172,;	619	68	87	SUCCESS
PTPRT	11122	.	GRCh37	20	40944529	40944529	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	55	163	0	ENST00000373198.4:c.1973T>A	p.Leu658His	p.L658H	ENST00000373198	NM_133170.3	658	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS42874.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCGAGGCTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	.	ENSP00000362283	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	tolerated(0.28)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Leu658His,ENST00000373201,;PTPRT,missense_variant,p.Leu658His,ENST00000356100,;PTPRT,missense_variant,p.Leu658His,ENST00000373198,;PTPRT,missense_variant,p.Leu658His,ENST00000373193,;PTPRT,missense_variant,p.Leu658His,ENST00000373184,;PTPRT,missense_variant,p.Leu658His,ENST00000373190,;PTPRT,missense_variant,p.Leu658His,ENST00000373187,;	1973	163	162	SUCCESS
WFDC3	140686	.	GRCh37	20	44417609	44417609	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	72	0	ENST00000243938.4:c.172A>C	p.Thr58Pro	p.T58P	ENST00000243938	NM_080614.1	58	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS33478.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGTGCAGC	BUFFER|p.K55E|c.163A>G|3	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256	.	.	ENSP00000243938	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0.02)	.	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,missense_variant,p.Thr58Pro,ENST00000243938,;WFDC3,missense_variant,p.Thr58Pro,ENST00000372632,;WFDC3,missense_variant,p.Thr52Pro,ENST00000337205,;WFDC3,intron_variant,,ENST00000372630,;DNTTIP1,upstream_gene_variant,,ENST00000372622,;DNTTIP1,upstream_gene_variant,,ENST00000415790,;DNTTIP1,upstream_gene_variant,,ENST00000456939,;DNTTIP1,upstream_gene_variant,,ENST00000449078,;DNTTIP1,upstream_gene_variant,,ENST00000435014,;WFDC3,non_coding_transcript_exon_variant,,ENST00000493693,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000467679,;WFDC3,non_coding_transcript_exon_variant,,ENST00000490877,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,intron_variant,,ENST00000462017,;WFDC3,intron_variant,,ENST00000471401,;WFDC3,non_coding_transcript_exon_variant,,ENST00000465935,;	256	73	84	SUCCESS
TUBB1	81027	.	GRCh37	20	57599165	57599165	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs753800012	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	80	0	ENST00000217133.1:c.683T>A	p.Leu228Gln	p.L228Q	ENST00000217133	NM_030773.3	228	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13475.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTAGTGT	BUFFER|p.L231L|c.693G>A|3	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF74,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	.	.	ENSP00000217133	.	4/4	.	.	.	.	.	.	.	.	rs753800012	4/4	PASS	ENST00000217133	Transcript	1	.	ENSG00000101162	16257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	TBB1_HUMAN	TUBB1	HGNC	.	.	UPI0000071B14	SNV	TUBB1,missense_variant,p.Leu228Gln,ENST00000217133,;ATP5E,downstream_gene_variant,,ENST00000395663,;ATP5E,downstream_gene_variant,,ENST00000395659,;ATP5E,downstream_gene_variant,,ENST00000243997,;	952	80	93	SUCCESS
LINC00176	0	.	GRCh37	20	62670294	62670307	+	non_coding_transcript_exon_variant	RNA	DEL	GAGGCCCGCCCTCC	GAGGCCCGCCCTCC	-	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	GAGGCCCGCCCTCC	GAGGCCCGCCCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	18	39	48	0	ENST00000444463.1:n.4243_4256del		p.*1415*	ENST00000444463				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13548.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGGAGGAGGCCCGCCCTCCACGCG	NONE	.	.	.	.	.	ENSP00000393795	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODIFIER	1/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	deletion	ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,upstream_gene_variant,,ENST00000217130,;LINC00176,non_coding_transcript_exon_variant,,ENST00000463337,;LINC00176,non_coding_transcript_exon_variant,,ENST00000431158,;LINC00176,non_coding_transcript_exon_variant,,ENST00000358393,;LINC00176,non_coding_transcript_exon_variant,,ENST00000444463,;	.	48	57	SUCCESS
MYT1	4661	.	GRCh37	20	62837052	62837052	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	97	0	ENST00000328439.1:c.296T>A	p.Val99Glu	p.V99E	ENST00000328439	NM_004535.2	99	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS13558.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTGAAGG	NONE	.	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	.	.	ENSP00000327465	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,missense_variant,p.Val99Glu,ENST00000536311,;MYT1,missense_variant,p.Val99Glu,ENST00000360149,;MYT1,missense_variant,p.Val99Glu,ENST00000328439,;	660	98	94	SUCCESS
AIRE	326	.	GRCh37	21	45710937	45710937	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	30	92	0	ENST00000291582.5:c.880-41A>G		p.*294*	ENST00000291582	NM_000383.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13706.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACCCCA	NONE	.	.	.	.	.	ENSP00000291582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291582	Transcript	.	.	ENSG00000160224	360	.	.	MODIFIER	7/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIRE_HUMAN	AIRE	HGNC	.	.	UPI0000030FA6	SNV	AIRE,missense_variant,p.His83Arg,ENST00000329347,;AIRE,missense_variant,p.His83Arg,ENST00000355347,;AIRE,intron_variant,,ENST00000291582,;AIRE,non_coding_transcript_exon_variant,,ENST00000337909,;AIRE,non_coding_transcript_exon_variant,,ENST00000397994,;AIRE,intron_variant,,ENST00000527919,;AIRE,intron_variant,,ENST00000530812,;	.	92	38	SUCCESS
C21orf58	54058	.	GRCh37	21	47722400	47722400	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	52	153	0	ENST00000291691.7:c.812A>T	p.Gln271Leu	p.Q271L	ENST00000291691	NM_058180.3	271	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13735.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTGCAGG	NONE	.	.	Pfam_domain:PF15248	.	.	ENSP00000291691	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000291691	Transcript	.	.	ENSG00000160298	1300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	tolerated(0.25)	.	CU058_HUMAN	C21orf58	HGNC	H7C1T9_HUMAN	.	UPI0000231C71	SNV	C21orf58,missense_variant,p.Gln165Leu,ENST00000397679,;C21orf58,missense_variant,p.Gln233Leu,ENST00000417060,;C21orf58,missense_variant,p.Gln271Leu,ENST00000291691,;C21orf58,missense_variant,p.Gln165Leu,ENST00000397682,;C21orf58,missense_variant,p.Gln165Leu,ENST00000397680,;C21orf58,missense_variant,p.Gln165Leu,ENST00000397683,;YBEY,downstream_gene_variant,,ENST00000339195,;YBEY,downstream_gene_variant,,ENST00000397701,;YBEY,downstream_gene_variant,,ENST00000397692,;YBEY,downstream_gene_variant,,ENST00000397694,;YBEY,downstream_gene_variant,,ENST00000397691,;YBEY,downstream_gene_variant,,ENST00000329319,;C21orf58,splice_region_variant,,ENST00000472607,;C21orf58,missense_variant,p.Gln233Leu,ENST00000491666,;	1949	153	74	SUCCESS
DGCR5	26220	.	GRCh37	22	18981959	18981959	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	34	0	ENST00000438934.1:n.5310C>T		p.*1770*	ENST00000438934				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACGCCAGTG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000438934	Transcript	.	.	ENSG00000237517	16757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DGCR5	HGNC	.	.	.	SNV	DGCR5,non_coding_transcript_exon_variant,,ENST00000438934,;DGCR5,intron_variant,,ENST00000440005,;DGCR5,upstream_gene_variant,,ENST00000540720,;DGCR5,downstream_gene_variant,,ENST00000421572,;DGCR5,upstream_gene_variant,,ENST00000424407,;DGCR5,downstream_gene_variant,,ENST00000537283,;AC007326.9,downstream_gene_variant,,ENST00000604539,;	5310	34	20	SUCCESS
TCN2	6948	.	GRCh37	22	31006953	31006953	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs556464879	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	104	0	ENST00000215838.3:c.160A>G	p.Ile54Val	p.I54V	ENST00000215838		54	Atc/Gtc	0	.	T:0	.	T:0	.	G	I/V	protein_coding	YES	CCDS13881.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCATCTAT	NONE	by1000G	.	hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF14,Pfam_domain:PF01122	T:0	.	ENSP00000215838	T:0	2/9	.	.	.	.	.	.	.	.	rs556464879	2/9	PASS	ENST00000215838	Transcript	.	T:0.0002	ENSG00000185339	11653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	T:0.001	tolerated(0.29)	.	TCO2_HUMAN	TCN2	HGNC	.	.	UPI0000167BDB	SNV	TCN2,missense_variant,p.Ile54Val,ENST00000215838,;TCN2,missense_variant,p.Ile54Val,ENST00000407817,;TCN2,missense_variant,p.Ile54Val,ENST00000423350,;TCN2,missense_variant,p.Ile54Val,ENST00000405742,;PES1,upstream_gene_variant,,ENST00000405677,;PES1,upstream_gene_variant,,ENST00000402281,;RP1-56J10.8,downstream_gene_variant,,ENST00000432130,;PES1,upstream_gene_variant,,ENST00000492986,;PES1,upstream_gene_variant,,ENST00000467368,;TCN2,3_prime_UTR_variant,,ENST00000450638,;TCN2,upstream_gene_variant,,ENST00000471659,;TCN2,upstream_gene_variant,,ENST00000493542,;	654	104	71	SUCCESS
MKL1	0	.	GRCh37	22	40859326	40859326	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	47	0	ENST00000355630.3:c.-59-36A>T		p.*20*	ENST00000355630	NM_020831.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14003.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGTCAGTT	NONE	.	.	.	.	.	ENSP00000347847	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355630	Transcript	.	.	ENSG00000196588	14334	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKL1_HUMAN	MKL1	HGNC	Q29R68_HUMAN	.	UPI000007311D	SNV	MKL1,5_prime_UTR_variant,,ENST00000402630,;MKL1,5_prime_UTR_variant,,ENST00000407029,;MKL1,intron_variant,,ENST00000402042,;MKL1,intron_variant,,ENST00000355630,;MKL1,intron_variant,,ENST00000396617,;MKL1,intron_variant,,ENST00000422851,;MKL1,intron_variant,,ENST00000463769,;	.	47	38	SUCCESS
TUBGCP6	85378	.	GRCh37	22	50682173	50682173	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1405343723	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	44	0	ENST00000248846.5:c.716C>T	p.Ala239Val	p.A239V	ENST00000248846		239	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS14087.1	716	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGCATTG	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32	.	.	ENSP00000248846	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000248846	Transcript	.	.	ENSG00000128159	18127	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.22)	.	GCP6_HUMAN	TUBGCP6	HGNC	.	.	UPI000013CC55	SNV	TUBGCP6,missense_variant,p.Ala239Val,ENST00000248846,;TUBGCP6,missense_variant,p.Ala239Val,ENST00000439308,;HDAC10,downstream_gene_variant,,ENST00000349505,;HDAC10,downstream_gene_variant,,ENST00000216271,;HDAC10,downstream_gene_variant,,ENST00000448072,;TUBGCP6,upstream_gene_variant,,ENST00000434349,;HDAC10,downstream_gene_variant,,ENST00000498366,;HDAC10,downstream_gene_variant,,ENST00000483222,;HDAC10,downstream_gene_variant,,ENST00000496909,;MAPK12,downstream_gene_variant,,ENST00000497036,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;HDAC10,downstream_gene_variant,,ENST00000475965,;HDAC10,downstream_gene_variant,,ENST00000471375,;HDAC10,downstream_gene_variant,,ENST00000496235,;HDAC10,downstream_gene_variant,,ENST00000477814,;HDAC10,downstream_gene_variant,,ENST00000454936,;HDAC10,downstream_gene_variant,,ENST00000429374,;HDAC10,downstream_gene_variant,,ENST00000415993,;HDAC10,downstream_gene_variant,,ENST00000470378,;HDAC10,downstream_gene_variant,,ENST00000476310,;HDAC10,downstream_gene_variant,,ENST00000497952,;	821	44	28	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105890085	105890085	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	46	138	0	ENST00000258449.1:c.1728A>T	p.Pro576=	p.P576=	ENST00000258449	NM_001142621.1	576	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2067.1	1728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCTGGATT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00637	.	.	ENSP00000377027	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,synonymous_variant,p.%3D,ENST00000393359,;TGFBRAP1,synonymous_variant,p.%3D,ENST00000258449,;	2155	138	148	SUCCESS
MERTK	10461	.	GRCh37	2	112732991	112732991	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	143	0	ENST00000295408.4:c.1086G>T	p.Met362Ile	p.M362I	ENST00000295408		362	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS2094.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGAATGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000295408	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000295408	Transcript	.	.	ENSG00000153208	7027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.26)	.	MERTK_HUMAN	MERTK	HGNC	Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN	.	UPI000013E252	SNV	MERTK,missense_variant,p.Met362Ile,ENST00000295408,;MERTK,missense_variant,p.Met362Ile,ENST00000421804,;MERTK,missense_variant,p.Met186Ile,ENST00000409780,;MERTK,3_prime_UTR_variant,,ENST00000439966,;	1343	143	134	SUCCESS
ROCK2	9475	.	GRCh37	2	11337476	11337476	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	56	205	0	ENST00000315872.6:c.3280-2A>T		p.X1094_splice	ENST00000315872	NM_004850.3	1094		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42654.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTATAAG	NONE	.	.	.	.	.	ENSP00000317985	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315872	Transcript	.	.	ENSG00000134318	10252	.	.	HIGH	26/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROCK2_HUMAN	ROCK2	HGNC	Q14DU5_HUMAN,E9PF63_HUMAN	.	UPI000034ECB0	SNV	ROCK2,splice_acceptor_variant,,ENST00000315872,;ROCK2,splice_acceptor_variant,,ENST00000401753,;ROCK2,upstream_gene_variant,,ENST00000493096,;ROCK2,upstream_gene_variant,,ENST00000460262,;	.	205	206	SUCCESS
DPP10	57628	.	GRCh37	2	116525912	116525912	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	43	169	0	ENST00000410059.1:c.1153T>A	p.Phe385Ile	p.F385I	ENST00000410059	NM_001178037.1	385	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS54388.1	1165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTTTATG	NONE	.	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	.	ENSP00000376855	.	13/26	.	.	.	.	.	.	.	.	COSM1250632,COSM1250631	13/26	PASS	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.932)	.	deleterious(0)	1,1	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Phe389Ile,ENST00000393147,;DPP10,missense_variant,p.Phe335Ile,ENST00000409163,;DPP10,missense_variant,p.Phe378Ile,ENST00000310323,;DPP10,missense_variant,p.Phe385Ile,ENST00000410059,;	1520	169	146	SUCCESS
IWS1	55677	.	GRCh37	2	128249666	128249666	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	108	0	ENST00000295321.4:c.1930-2A>T		p.X644_splice	ENST00000295321	NM_017969.2	644		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2146.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTGGGGA	NONE	.	.	.	.	.	ENSP00000295321	.	.	.	.	.	.	.	.	.	.	COSM4084685	.	PASS	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	HIGH	9/13	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,splice_acceptor_variant,,ENST00000295321,;IWS1,splice_acceptor_variant,,ENST00000455721,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,downstream_gene_variant,,ENST00000598065,;AC010976.2,downstream_gene_variant,,ENST00000595561,;AC010976.2,downstream_gene_variant,,ENST00000454503,;AC010976.2,downstream_gene_variant,,ENST00000596439,;	.	108	119	SUCCESS
LCT	3938	.	GRCh37	2	136567010	136567010	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	99	0	ENST00000264162.2:c.2907G>A	p.Leu969=	p.L969=	ENST00000264162	NM_002299.2	969	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2178.1	2907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCAAAGC	NONE	.	.	hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445	.	.	ENSP00000264162	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000264162	Transcript	.	.	ENSG00000115850	6530	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPH_HUMAN	LCT	HGNC	.	.	UPI000013D4D2	SNV	LCT,synonymous_variant,p.%3D,ENST00000264162,;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,synonymous_variant,p.%3D,ENST00000452974,;	2918	99	78	SUCCESS
PDE11A	50940	.	GRCh37	2	178494226	178494226	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	72	208	0	ENST00000286063.6:c.2711A>T	p.Lys904Met	p.K904M	ENST00000286063	NM_016953.3	904	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS33334.1	2711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTTACTT	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000286063	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	deleterious(0.01)	.	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,missense_variant,p.Lys654Met,ENST00000358450,;PDE11A,missense_variant,p.Lys95Met,ENST00000450799,;PDE11A,missense_variant,p.Lys904Met,ENST00000286063,;PDE11A,missense_variant,p.Lys460Met,ENST00000389683,;PDE11A,missense_variant,p.Lys107Met,ENST00000436700,;PDE11A,missense_variant,p.Lys546Met,ENST00000449286,;PDE11A,missense_variant,p.Lys546Met,ENST00000409504,;PDE11A,non_coding_transcript_exon_variant,,ENST00000488399,;PDE11A,non_coding_transcript_exon_variant,,ENST00000478646,;	3029	208	228	SUCCESS
TTN	7273	.	GRCh37	2	179641996	179641996	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1441856975	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	77	0	ENST00000591111.1:c.4694T>C	p.Val1565Ala	p.V1565A	ENST00000591111		1565	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS59435.1	4694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGACATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	27/363	.	.	.	.	.	.	.	.	.	27/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val1565Ala,ENST00000360870,;TTN,missense_variant,p.Val1519Ala,ENST00000359218,;TTN,missense_variant,p.Val1565Ala,ENST00000342992,;TTN,missense_variant,p.Val1519Ala,ENST00000342175,;TTN,missense_variant,p.Val1565Ala,ENST00000589042,;TTN,missense_variant,p.Val1565Ala,ENST00000591111,;TTN,missense_variant,p.Val1519Ala,ENST00000460472,;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	4919	77	92	SUCCESS
NCKAP1	10787	.	GRCh37	2	183866687	183866687	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	72	232	0	ENST00000361354.4:c.597T>C	p.His199=	p.H199=	ENST00000361354		199	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS2288.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTATGGGG	NONE	.	.	Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11	.	.	ENSP00000354251	.	7/32	.	.	.	.	.	.	.	.	.	7/32	PASS	ENST00000360982	Transcript	.	.	ENSG00000061676	7666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKP1_HUMAN	NCKAP1	HGNC	.	.	UPI00001693F2	SNV	NCKAP1,synonymous_variant,p.%3D,ENST00000360982,;NCKAP1,synonymous_variant,p.%3D,ENST00000361354,;	1374	232	266	SUCCESS
ZDBF2	57683	.	GRCh37	2	207176232	207176232	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	69	287	0	ENST00000374423.3:c.6980A>T	p.Asp2327Val	p.D2327V	ENST00000374423	NM_020923.1	2327	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS46501.1	6980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGATCTGA	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.04)	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Asp2327Val,ENST00000374423,;	7366	287	274	SUCCESS
UNC80	285175	.	GRCh37	2	210818961	210818961	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	101	0	ENST00000439458.1:c.7226A>G	p.Gln2409Arg	p.Q2409R	ENST00000439458	NM_032504.1	2409	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS46504.1	7226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	47/64	.	.	.	.	.	.	.	.	.	47/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Gln2409Arg,ENST00000439458,;UNC80,missense_variant,p.Gln2404Arg,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000481494,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	7306	102	109	SUCCESS
ATAD2B	54454	.	GRCh37	2	23980759	23980759	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201429059	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	47	100	0	ENST00000238789.5:c.3607A>G	p.Met1203Val	p.M1203V	ENST00000238789	NM_001242338.1	1203	Atg/Gtg	0	C:0.0003	C:0	.	C:0	.	C	M/V	protein_coding	YES	CCDS46227.1	3607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCATAGATA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069	C:0	C:0.0001	ENSP00000238789	C:0	25/28	.	.	.	.	.	.	.	.	rs201429059	25/28	PASS	ENST00000238789	Transcript	.	C:0.0002	ENSG00000119778	29230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	C:0.001	tolerated(0.54)	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,missense_variant,p.Met1203Val,ENST00000238789,;ATAD2B,missense_variant,p.Met479Val,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;	3951	100	150	SUCCESS
ANKMY1	51281	.	GRCh37	2	241463387	241463387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	57	0	ENST00000272972.3:c.1480A>T	p.Ser494Cys	p.S494C	ENST00000272972	NM_016552.2	494	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2536.1	1480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTGTGGG	NONE	.	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897	.	.	ENSP00000375847	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0.01)	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,missense_variant,p.Ser353Cys,ENST00000405523,;ANKMY1,missense_variant,p.Ser494Cys,ENST00000391987,;ANKMY1,missense_variant,p.Ser353Cys,ENST00000361678,;ANKMY1,missense_variant,p.Ser264Cys,ENST00000405002,;ANKMY1,missense_variant,p.Ser264Cys,ENST00000373320,;ANKMY1,missense_variant,p.Ser432Cys,ENST00000403283,;ANKMY1,missense_variant,p.Ser583Cys,ENST00000401804,;ANKMY1,missense_variant,p.Ser494Cys,ENST00000272972,;ANKMY1,missense_variant,p.Ser306Cys,ENST00000536462,;ANKMY1,missense_variant,p.Ser353Cys,ENST00000373318,;ANKMY1,missense_variant,p.Ser255Cys,ENST00000406958,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;	1847	57	57	SUCCESS
AGXT	189	.	GRCh37	2	241813413	241813413	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs180177248	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	38	0	ENST00000307503.3:c.614C>T	p.Ser205Leu	p.S205L	ENST00000307503	NM_000030.2	205	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS2543.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTCGGGCT	NONE	byCluster	.	hmmpanther:PTHR21152:SF16,hmmpanther:PTHR21152,PROSITE_patterns:PS00595,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,Superfamily_domains:SSF53383	.	.	ENSP00000302620	.	6/11	.	.	.	.	.	.	.	.	CM093802,rs180177248,CM093803	6/11	PASS	ENST00000307503	Transcript	.	.	ENSG00000172482	341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,1	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SPYA_HUMAN	AGXT	HGNC	.	.	UPI0000135E9B	SNV	AGXT,missense_variant,p.Ser205Leu,ENST00000307503,;AGXT,intron_variant,,ENST00000476698,;AGXT,downstream_gene_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000470255,;	1001	38	42	SUCCESS
KCNK3	3777	.	GRCh37	2	26915803	26915803	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	50	0	ENST00000302909.3:c.60G>T	p.Leu20=	p.L20=	ENST00000302909	NM_002246.2	20	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1727.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGGTGGG	NONE	.	.	hmmpanther:PTHR11003:SF101,hmmpanther:PTHR11003,Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01095	.	.	ENSP00000306275	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302909	Transcript	.	.	ENSG00000171303	6278	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNK3_HUMAN	KCNK3	HGNC	B9EIJ4_HUMAN	.	UPI00000422B1	SNV	KCNK3,synonymous_variant,p.%3D,ENST00000302909,;	185	50	65	SUCCESS
DNAH6	1768	.	GRCh37	2	84832704	84832704	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	64	171	0	ENST00000237449.6:c.3162A>T	p.Thr1054=	p.T1054=	ENST00000237449		1054	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46348.1	3162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGATGA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	20/77	.	.	.	.	.	.	.	.	.	20/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,synonymous_variant,p.%3D,ENST00000237449,;DNAH6,synonymous_variant,p.%3D,ENST00000398278,;DNAH6,synonymous_variant,p.%3D,ENST00000389394,;	3299	171	184	SUCCESS
IGKV3-15	28913	.	GRCh37	2	89384687	89384687	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	474	134	538	1	ENST00000390252.2:c.331T>A	p.Tyr111Asn	p.Y111N	ENST00000390252		111	Tat/Aat	0	.	.	.	.	.	T	Y/N	IG_V_gene	YES	.	331	RADIA|MUSE|VARSCANS	.	ATTATACTGCT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF118,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374787	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390252	Transcript	.	.	ENSG00000244437	5816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.15)	.	.	IGKV3-15	HGNC	.	.	UPI0000113B53	SNV	IGKV3-15,missense_variant,p.Tyr111Asn,ENST00000390252,;	428	539	608	SUCCESS
IGKV6-21	28906	.	GRCh37	2	89459329	89459329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	380	116	499	2	ENST00000390256.2:c.248G>A	p.Gly83Asp	p.G83D	ENST00000390256		83	gGc/gAc	0	.	.	.	.	.	T	G/D	IG_V_gene	YES	.	248	RADIA|SOMATICSNIPER|VARSCANS	.	CACTGCCACTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF146,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374791	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390256	Transcript	.	.	ENSG00000211611	5836	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	.	IGKV6-21	HGNC	.	.	UPI0000113B3E	SNV	IGKV6-21,missense_variant,p.Gly83Asp,ENST00000390256,;	312	501	496	SUCCESS
VWA3B	200403	.	GRCh37	2	98779401	98779401	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755476386	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	47	0	ENST00000477737.1:c.1076C>T	p.Ala359Val	p.A359V	ENST00000477737	NM_144992.4	359	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42718.1	1076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCCGAGC	NONE	byFrequency	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	8/28	.	.	.	.	.	.	.	.	rs755476386	8/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,missense_variant,p.Ala209Val,ENST00000451075,;VWA3B,missense_variant,p.Ala359Val,ENST00000477737,;VWA3B,missense_variant,p.Ala359Val,ENST00000435344,;VWA3B,missense_variant,p.Ala359Val,ENST00000416277,;VWA3B,missense_variant,p.Ala359Val,ENST00000433678,;VWA3B,missense_variant,p.Pro264Ser,ENST00000448638,;VWA3B,3_prime_UTR_variant,,ENST00000422503,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	1280	47	57	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119120710	119120710	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758065077	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	55	183	1	ENST00000264245.4:c.1111G>A	p.Gly371Ser	p.G371S	ENST00000264245	NM_020754.2	371	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43135.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGGTGGA	NONE	.	.	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	10/12	.	.	.	.	.	.	.	.	rs758065077	10/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	tolerated(0.07)	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,missense_variant,p.Gly371Ser,ENST00000264245,;	1643	184	136	SUCCESS
GPR156	165829	.	GRCh37	3	119886209	119886209	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	59	0	ENST00000315843.3:c.2115C>G	p.Ala705=	p.A705=	ENST00000315843	NM_153002.2	705	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS2997.1	2115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGGCCCG	NONE	.	.	.	.	.	ENSP00000417261	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000464295	Transcript	.	.	ENSG00000175697	20844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP156_HUMAN	GPR156	HGNC	.	.	UPI000004731C	SNV	GPR156,synonymous_variant,p.%3D,ENST00000315843,;GPR156,synonymous_variant,p.%3D,ENST00000461057,;GPR156,synonymous_variant,p.%3D,ENST00000464295,;GPR156,3_prime_UTR_variant,,ENST00000495912,;	2561	59	45	SUCCESS
FBXO40	51725	.	GRCh37	3	121341447	121341447	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	47	146	0	ENST00000338040.4:c.1171C>G	p.Pro391Ala	p.P391A	ENST00000338040	NM_016298.3	391	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS33835.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCCCAAA	NONE	.	.	hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1	.	.	ENSP00000337510	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000338040	Transcript	.	.	ENSG00000163833	29816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	FBX40_HUMAN	FBXO40	HGNC	.	.	UPI000020A046	SNV	FBXO40,missense_variant,p.Pro391Ala,ENST00000338040,;	1585	146	107	SUCCESS
COL6A6	131873	.	GRCh37	3	130285713	130285713	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1559999816	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	118	0	ENST00000358511.6:c.1450T>A	p.Trp484Arg	p.W484R	ENST00000358511	NM_001102608.1	484	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS46911.1	1450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGGGAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	4/36	.	.	.	.	.	.	.	.	.	4/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	tolerated(0.35)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Trp484Arg,ENST00000453409,;COL6A6,missense_variant,p.Trp484Arg,ENST00000358511,;	1481	118	86	SUCCESS
ZFYVE20	0	.	GRCh37	3	15137554	15137554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	88	0	ENST00000253699.3:c.74C>A	p.Ser25Tyr	p.S25Y	ENST00000253699	NM_022340.2	25	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2623.1	74	MUTECT|MUSE|VARSCANS	.	AGAAAGACTGC	NONE	.	.	PROSITE_patterns:PS00028,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510,PROSITE_profiles:PS50157	.	.	ENSP00000253699	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000253699	Transcript	.	.	ENSG00000131381	20759	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	RBNS5_HUMAN	ZFYVE20	HGNC	D6RD50_HUMAN	.	UPI0000051CE0	SNV	ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000253699,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000507357,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000449050,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000435849,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000476527,;ZFYVE20,non_coding_transcript_exon_variant,,ENST00000449964,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000441057,;	688	88	60	SUCCESS
EAF1	85403	.	GRCh37	3	15475936	15475936	+	synonymous_variant	Silent	SNP	T	T	G	rs751742880	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	87	0	ENST00000396842.2:c.417T>G	p.Pro139=	p.P139=	ENST00000396842	NM_033083.6	139	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS2626.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15970:SF8,hmmpanther:PTHR15970	.	.	ENSP00000380054	.	4/6	.	.	.	.	.	.	.	.	rs751742880	4/6	PASS	ENST00000396842	Transcript	.	.	ENSG00000144597	20907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAF1_HUMAN	EAF1	HGNC	.	.	UPI000004B29F	SNV	EAF1,synonymous_variant,p.%3D,ENST00000396842,;EAF1,synonymous_variant,p.%3D,ENST00000432764,;METTL6,intron_variant,,ENST00000598878,;RNU6-1024P,upstream_gene_variant,,ENST00000384199,;EAF1-AS1,downstream_gene_variant,,ENST00000608780,;EAF1-AS1,downstream_gene_variant,,ENST00000596371,;EAF1-AS1,downstream_gene_variant,,ENST00000593876,;EAF1-AS1,downstream_gene_variant,,ENST00000595627,;EAF1-AS1,downstream_gene_variant,,ENST00000595975,;EAF1-AS1,downstream_gene_variant,,ENST00000597949,;EAF1-AS1,downstream_gene_variant,,ENST00000609310,;EAF1-AS1,downstream_gene_variant,,ENST00000594820,;EAF1-AS1,downstream_gene_variant,,ENST00000494875,;EAF1,3_prime_UTR_variant,,ENST00000449565,;	842	87	68	SUCCESS
ACAP2	23527	.	GRCh37	3	195013010	195013010	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	36	204	0	ENST00000326793.6:c.1937T>A	p.Ile646Asn	p.I646N	ENST00000326793	NM_012287.5	646	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS33924.1	1937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAATAAGT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000324287	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.Ile646Asn,ENST00000326793,;ACAP2,downstream_gene_variant,,ENST00000450200,;ACAP2,downstream_gene_variant,,ENST00000484296,;ACAP2,upstream_gene_variant,,ENST00000466876,;ACAP2,downstream_gene_variant,,ENST00000475905,;	2168	204	104	SUCCESS
KAT2B	8850	.	GRCh37	3	20156480	20156480	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	141	0	ENST00000263754.4:c.1150G>T	p.Val384Phe	p.V384F	ENST00000263754	NM_003884.4	384	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS2634.1	1150	RADIA|SOMATICSNIPER|VARSCANS	.	AAACAGGTAAG	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,PIRSF_domain:PIRSF003048	.	.	ENSP00000263754	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.606)	.	tolerated(0.54)	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,missense_variant,p.Val384Phe,ENST00000263754,;KAT2B,splice_region_variant,,ENST00000469085,;	1605	141	81	SUCCESS
KAT2B	8850	.	GRCh37	3	20156481	20156481	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	137	0	ENST00000263754.4:c.1150+1G>T		p.X384_splice	ENST00000263754	NM_003884.4	384		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2634.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AACAGGTAAGT	NONE	.	.	.	.	.	ENSP00000263754	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	HIGH	7/17	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,splice_donor_variant,,ENST00000263754,;KAT2B,splice_donor_variant,,ENST00000469085,;	.	137	79	SUCCESS
KAT2B	8850	.	GRCh37	3	20156482	20156482	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	136	0	ENST00000263754.4:c.1150+2T>G		p.X384_splice	ENST00000263754	NM_003884.4	384		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2634.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTAAGTT	NONE	.	.	.	.	.	ENSP00000263754	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	HIGH	7/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,splice_donor_variant,,ENST00000263754,;KAT2B,splice_donor_variant,,ENST00000469085,;	.	136	74	SUCCESS
NEK10	152110	.	GRCh37	3	27216224	27216224	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	49	116	0	ENST00000429845.2:c.2606A>T	p.Gln869Leu	p.Q869L	ENST00000429845		869	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	.	.	2606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTGGAAG	NONE	.	.	hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77	.	.	ENSP00000395849	.	28/39	.	.	.	.	.	.	.	.	.	28/39	PASS	ENST00000429845	Transcript	.	.	ENSG00000163491	18592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.389)	.	deleterious(0.02)	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI0000EE2A86	SNV	NEK10,missense_variant,p.Gln869Leu,ENST00000429845,;NEK10,missense_variant,p.Gln181Leu,ENST00000383771,;NEK10,missense_variant,p.Gln181Leu,ENST00000295720,;NEK10,missense_variant,p.Gln181Leu,ENST00000383770,;NEK10,missense_variant,p.Gln266Leu,ENST00000357467,;NEK10,non_coding_transcript_exon_variant,,ENST00000498182,;NEK10,non_coding_transcript_exon_variant,,ENST00000460447,;NEK10,non_coding_transcript_exon_variant,,ENST00000574215,;	2969	116	105	SUCCESS
DLEC1	9940	.	GRCh37	3	38158025	38158025	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760972466	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	80	0	ENST00000308059.6:c.3938C>T	p.Pro1313Leu	p.P1313L	ENST00000308059		1313	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2672.2	3938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCTTTCC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	28/37	.	.	.	.	.	.	.	.	rs760972466	28/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	deleterious(0.02)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Pro1313Leu,ENST00000308059,;DLEC1,missense_variant,p.Pro1313Leu,ENST00000346219,;DLEC1,missense_variant,p.Pro1316Leu,ENST00000452631,;ACAA1,intron_variant,,ENST00000451419,;DLEC1,downstream_gene_variant,,ENST00000477260,;DLEC1,upstream_gene_variant,,ENST00000478428,;	3959	80	65	SUCCESS
SCAP	22937	.	GRCh37	3	47461017	47461017	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	120	0	ENST00000265565.5:c.1741C>A	p.Pro581Thr	p.P581T	ENST00000265565	NM_012235.2	581	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2755.2	1741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGGAAGA	NONE	.	.	hmmpanther:PTHR10796:SF53,hmmpanther:PTHR10796	.	.	ENSP00000265565	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000265565	Transcript	.	.	ENSG00000114650	30634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.06)	.	SCAP_HUMAN	SCAP	HGNC	D6RA39_HUMAN,C9JQ35_HUMAN	.	UPI0000135624	SNV	SCAP,missense_variant,p.Pro189Thr,ENST00000545718,;SCAP,missense_variant,p.Pro326Thr,ENST00000441517,;SCAP,missense_variant,p.Pro581Thr,ENST00000265565,;SCAP,downstream_gene_variant,,ENST00000468965,;SCAP,downstream_gene_variant,,ENST00000465628,;SCAP,3_prime_UTR_variant,,ENST00000320017,;SCAP,3_prime_UTR_variant,,ENST00000416208,;	2154	120	91	SUCCESS
PDZRN3	23024	.	GRCh37	3	73432795	73432795	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	67	0	ENST00000263666.4:c.2922C>A	p.Ser974Arg	p.S974R	ENST00000263666	NM_015009.1	974	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS33789.1	2922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGCTCCA	NONE	.	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545	.	.	ENSP00000263666	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Ser631Arg,ENST00000466780,;PDZRN3,missense_variant,p.Ser974Arg,ENST00000263666,;PDZRN3,missense_variant,p.Ser290Arg,ENST00000494559,;PDZRN3,missense_variant,p.Ser631Arg,ENST00000462146,;PDZRN3,missense_variant,p.Ser691Arg,ENST00000479530,;PDZRN3,missense_variant,p.Ser696Arg,ENST00000535920,;PDZRN3,downstream_gene_variant,,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000484487,;PDZRN3,downstream_gene_variant,,ENST00000478209,;	3037	67	40	SUCCESS
PDZRN3	23024	.	GRCh37	3	73673351	73673351	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	23	0	ENST00000263666.4:c.626T>G	p.Leu209Arg	p.L209R	ENST00000263666	NM_015009.1	209	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS33789.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TCTGCAGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Superfamily_domains:SSF49599	.	.	ENSP00000263666	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.127)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Leu209Arg,ENST00000263666,;PDZRN3,missense_variant,p.Leu209Arg,ENST00000308537,;PDZRN3-AS1,intron_variant,,ENST00000608304,;PDZRN3-AS1,intron_variant,,ENST00000478988,;PDZRN3-AS1,intron_variant,,ENST00000608743,;	741	23	14	SUCCESS
OR5H1	26341	.	GRCh37	3	97851772	97851772	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	185	712	0	ENST00000354565.2:c.231G>T	p.Val77=	p.V77=	ENST00000354565	NM_001005338.1	77	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33797.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGACCCC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262	.	.	ENSP00000346575	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354565	Transcript	.	.	ENSG00000231192	8346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5H1_HUMAN	OR5H1	HGNC	.	.	UPI0000197652	SNV	OR5H1,synonymous_variant,p.%3D,ENST00000354565,;RP11-343D2.11,intron_variant,,ENST00000508964,;	231	712	473	SUCCESS
RNF212	285498	.	GRCh37	4	1084625	1084625	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	79	0	ENST00000433731.2:c.248T>A	p.Ile83Asn	p.I83N	ENST00000433731		83	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS46996.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAAATCTGA	NONE	.	.	hmmpanther:PTHR22663,hmmpanther:PTHR22663:SF21	.	.	ENSP00000389709	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000433731	Transcript	1	.	ENSG00000178222	27729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	RN212_HUMAN	RNF212	HGNC	.	.	UPI00005764E4	SNV	RNF212,missense_variant,p.Ile83Asn,ENST00000382968,;RNF212,missense_variant,p.Ile83Asn,ENST00000433731,;RNF212,downstream_gene_variant,,ENST00000333673,;RNF212,missense_variant,p.Ile83Asn,ENST00000511620,;RNF212,splice_region_variant,,ENST00000512552,;RNF212,splice_region_variant,,ENST00000506730,;RNF212,splice_region_variant,,ENST00000508428,;RNF212,splice_region_variant,,ENST00000510715,;	310	79	81	SUCCESS
CFI	3426	.	GRCh37	4	110685711	110685711	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	57	0	ENST00000394634.2:c.464T>G	p.Leu155Arg	p.L155R	ENST00000394634	NM_000204.3	155	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS34049.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAAGGCAG	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF13,PROSITE_profiles:PS50287	.	.	ENSP00000378130	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.54)	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,missense_variant,p.Leu155Arg,ENST00000394634,;CFI,missense_variant,p.Leu155Arg,ENST00000510800,;CFI,missense_variant,p.Leu155Arg,ENST00000512148,;CFI,missense_variant,p.Leu155Arg,ENST00000394635,;CFI,upstream_gene_variant,,ENST00000504853,;	672	57	59	SUCCESS
EGF	1950	.	GRCh37	4	110897334	110897334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	102	183	0	ENST00000265171.5:c.1996A>T	p.Ile666Phe	p.I666F	ENST00000265171	NM_001963.4	666	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS3689.1	1996	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGATTGAA	NONE	.	.	Superfamily_domains:SSF63825,PIRSF_domain:PIRSF001778,SMART_domains:SM00135,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	.	.	ENSP00000265171	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,missense_variant,p.Ile666Phe,ENST00000503392,;EGF,missense_variant,p.Ile666Phe,ENST00000265171,;EGF,missense_variant,p.Ile624Phe,ENST00000509793,;EGF,non_coding_transcript_exon_variant,,ENST00000541061,;EGF,upstream_gene_variant,,ENST00000509996,;EGF,upstream_gene_variant,,ENST00000511228,;EGF,downstream_gene_variant,,ENST00000502579,;	2441	183	168	SUCCESS
USP53	54532	.	GRCh37	4	120189490	120189490	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	439	180	643	0	ENST00000274030.6:c.1203G>A	p.Lys401=	p.K401=	ENST00000274030	NM_019050.2	401	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS43265.1	1203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCAGAG	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF6	.	.	ENSP00000409906	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000450251	Transcript	.	.	ENSG00000145390	29255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP53_HUMAN	USP53	HGNC	.	.	UPI0000251D9D	SNV	USP53,synonymous_variant,p.%3D,ENST00000450251,;USP53,synonymous_variant,p.%3D,ENST00000274030,;USP53,3_prime_UTR_variant,,ENST00000507906,;USP53,3_prime_UTR_variant,,ENST00000509769,;USP53,non_coding_transcript_exon_variant,,ENST00000510852,;	1747	643	620	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121211	135121211	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756917832	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	62	225	1	ENST00000421491.3:c.964G>T	p.Val322Phe	p.V322F	ENST00000421491		322	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	.	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAACTCTGC	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252,PROSITE_profiles:PS50102	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	rs756917832	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,missense_variant,p.Val322Phe,ENST00000421491,;PABPC4L,missense_variant,p.Val380Phe,ENST00000529122,;	1221	226	233	SUCCESS
TLL1	7092	.	GRCh37	4	166996136	166996136	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	16	151	1	ENST00000061240.2:c.2295T>A	p.Asn765Lys	p.N765K	ENST00000061240	NM_012464.4	765	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS3811.1	2295	MUTECT|MUSE|VARSCANS	.	GACAATAAACA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,PROSITE_patterns:PS01186,Pfam_domain:PF14670,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001199,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000061240	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.656)	.	deleterious(0.02)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Asn765Lys,ENST00000061240,;TLL1,missense_variant,p.Asn788Lys,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2942	152	168	SUCCESS
HMGB2	3148	.	GRCh37	4	174253236	174253236	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	26	121	0	ENST00000296503.5:c.625G>A	p.Glu209Lys	p.E209K	ENST00000296503		209	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS3816.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTCTTCAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF181	.	.	ENSP00000296503	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000296503	Transcript	.	.	ENSG00000164104	5000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	HMGB2_HUMAN	HMGB2	HGNC	Q5U071_HUMAN,D6R9A6_HUMAN	.	UPI000013E34D	SNV	HMGB2,missense_variant,p.Glu209Lys,ENST00000438704,;HMGB2,missense_variant,p.Glu209Lys,ENST00000296503,;HMGB2,missense_variant,p.Glu209Lys,ENST00000446922,;HMGB2,downstream_gene_variant,,ENST00000506267,;RP11-798M19.3,upstream_gene_variant,,ENST00000507803,;HMGB2,non_coding_transcript_exon_variant,,ENST00000511316,;	1499	121	130	SUCCESS
ZFP42	132625	.	GRCh37	4	188924650	188924650	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	38	48	0	ENST00000326866.4:c.689C>A	p.Ser230Ter	p.S230*	ENST00000326866	NM_174900.3	230	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS3849.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCAAAAC	BUFFER|p.F226F|c.678C>T|4,BUFFER|p.V227I|c.679G>A|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	COSM1650226,COSM586814	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,stop_gained,p.Ser230Ter,ENST00000326866,;ZFP42,stop_gained,p.Ser230Ter,ENST00000509524,;	1097	48	64	SUCCESS
PCDH7	5099	.	GRCh37	4	30723268	30723268	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	55	0	ENST00000361762.2:c.224T>A	p.Leu75Gln	p.L75Q	ENST00000361762	NM_002589.2	75	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS54753.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCTGAAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Leu75Gln,ENST00000543491,;PCDH7,missense_variant,p.Leu75Gln,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000511884,;PCDH7,upstream_gene_variant,,ENST00000507864,;	224	55	57	SUCCESS
EVC	2121	.	GRCh37	4	5733299	5733299	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144897690	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	82	214	1	ENST00000264956.6:c.532G>A	p.Val178Ile	p.V178I	ENST00000264956	NM_153717.2	178	Gtc/Atc	0	A:0.0073	A:0.0045	.	A:0.0014	.	A	V/I	protein_coding	YES	CCDS3383.1	532	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGTCCAC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	A:0	A:0.0002	ENSP00000372120	A:0	4/24	.	.	.	.	.	.	.	.	rs144897690	4/24	common_in_exac	ENST00000382674	Transcript	1	A:0.0014	ENSG00000072840	3497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	A:0	tolerated(1)	.	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,missense_variant,p.Val178Ile,ENST00000382674,;EVC,missense_variant,p.Val178Ile,ENST00000264956,;EVC,missense_variant,p.Val178Ile,ENST00000509451,;	716	215	226	SUCCESS
CABS1	85438	.	GRCh37	4	71200710	71200710	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	61	0	ENST00000273936.5:c.-47G>A		p.*16*	ENST00000273936	NM_033122.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3539.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGAGTCC	NONE	.	.	.	.	.	ENSP00000273936	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000273936	Transcript	.	.	ENSG00000145309	30710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABS1_HUMAN	CABS1	HGNC	.	.	UPI0000071735	SNV	CABS1,5_prime_UTR_variant,,ENST00000273936,;	28	61	23	SUCCESS
ABLIM2	84448	.	GRCh37	4	8031435	8031435	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	92	0	ENST00000341937.5:c.1116C>T	p.Ser372=	p.S372=	ENST00000341937	NM_001130084.1	372	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47014.1	1116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGCTAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24213:SF6,hmmpanther:PTHR24213	.	.	ENSP00000393511	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000447017	Transcript	.	.	ENSG00000163995	19195	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABLM2_HUMAN	ABLIM2	HGNC	Q4W5G4_HUMAN	.	UPI00017994EF	SNV	ABLIM2,synonymous_variant,p.%3D,ENST00000510277,;ABLIM2,synonymous_variant,p.%3D,ENST00000447017,;ABLIM2,synonymous_variant,p.%3D,ENST00000407564,;ABLIM2,synonymous_variant,p.%3D,ENST00000361581,;ABLIM2,synonymous_variant,p.%3D,ENST00000545242,;ABLIM2,synonymous_variant,p.%3D,ENST00000361737,;ABLIM2,synonymous_variant,p.%3D,ENST00000428004,;ABLIM2,synonymous_variant,p.%3D,ENST00000341937,;ABLIM2,synonymous_variant,p.%3D,ENST00000296372,;ABLIM2,synonymous_variant,p.%3D,ENST00000546334,;ABLIM2,synonymous_variant,p.%3D,ENST00000318888,;ABLIM2,synonymous_variant,p.%3D,ENST00000505872,;ABLIM2,synonymous_variant,p.%3D,ENST00000514025,;ABLIM2,non_coding_transcript_exon_variant,,ENST00000515079,;	1136	92	82	SUCCESS
GAK	2580	.	GRCh37	4	887684	887684	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs140104121	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	98	0	ENST00000314167.4:c.855C>A	p.Tyr285Ter	p.Y285*	ENST00000314167	NM_005255.2	285	taC/taA	0	A:0	.	.	.	.	T	Y/*	protein_coding	YES	CCDS3340.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTGTACTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	A:0.0009	ENSP00000314499	.	8/28	.	.	.	.	.	.	.	.	rs140104121	8/28	PASS	ENST00000314167	Transcript	.	.	ENSG00000178950	4113	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAK_HUMAN	GAK	HGNC	Q59HA5_HUMAN,D6RF16_HUMAN,D6RC24_HUMAN	.	UPI000012B04A	SNV	GAK,stop_gained,p.Tyr206Ter,ENST00000511163,;GAK,stop_gained,p.Tyr285Ter,ENST00000314167,;GAK,downstream_gene_variant,,ENST00000502656,;GAK,3_prime_UTR_variant,,ENST00000505819,;GAK,non_coding_transcript_exon_variant,,ENST00000504435,;GAK,downstream_gene_variant,,ENST00000507580,;GAK,downstream_gene_variant,,ENST00000512325,;GAK,downstream_gene_variant,,ENST00000507991,;	966	98	106	SUCCESS
HERC6	55008	.	GRCh37	4	89329771	89329771	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	100	383	0	ENST00000264346.7:c.1368+2T>C		p.X456_splice	ENST00000264346	NM_017912.3	456		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47098.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTAATAG	NONE	.	.	.	.	.	ENSP00000264346	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264346	Transcript	.	.	ENSG00000138642	26072	.	.	HIGH	11/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC6_HUMAN	HERC6	HGNC	B3KUG6_HUMAN	.	UPI00004C7A84	SNV	HERC6,splice_donor_variant,,ENST00000380265,;HERC6,splice_donor_variant,,ENST00000264346,;HERC6,downstream_gene_variant,,ENST00000515365,;	.	383	150	SUCCESS
SEMA6A	57556	.	GRCh37	5	115783094	115783094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	41	67	0	ENST00000343348.6:c.2308C>T	p.Pro770Ser	p.P770S	ENST00000343348	NM_020796.3	770	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47256.1	2308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCTTCC	NONE	.	.	hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036	.	.	ENSP00000345512	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000343348	Transcript	.	.	ENSG00000092421	10738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	SEM6A_HUMAN	SEMA6A	HGNC	D6RCR0_HUMAN,D6RAG9_HUMAN	.	UPI000020C463	SNV	SEMA6A,missense_variant,p.Pro770Ser,ENST00000510263,;SEMA6A,missense_variant,p.Pro285Ser,ENST00000515129,;SEMA6A,missense_variant,p.Pro787Ser,ENST00000257414,;SEMA6A,missense_variant,p.Pro197Ser,ENST00000513137,;SEMA6A,missense_variant,p.Pro247Ser,ENST00000282394,;SEMA6A,missense_variant,p.Pro149Ser,ENST00000503865,;SEMA6A,missense_variant,p.Pro770Ser,ENST00000343348,;CTB-118N6.3,upstream_gene_variant,,ENST00000512128,;CTB-118N6.3,upstream_gene_variant,,ENST00000510682,;CTB-118N6.3,upstream_gene_variant,,ENST00000514214,;CTB-118N6.3,upstream_gene_variant,,ENST00000508424,;CTB-118N6.3,upstream_gene_variant,,ENST00000508640,;SEMA6A,downstream_gene_variant,,ENST00000506114,;AC010296.1,upstream_gene_variant,,ENST00000542571,;	3096	67	75	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140740665	140740665	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	36	124	0	ENST00000522605.1:c.963A>C	p.Ala321=	p.A321=	ENST00000522605	NM_018923.2	321	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54924.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAAAAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,synonymous_variant,p.%3D,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	963	124	172	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140773878	140773878	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	82	122	0	ENST00000398604.2:c.1498C>T	p.Pro500Ser	p.P500S	ENST00000398604	NM_032088.1	500	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47291.1	1498	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGCCCCTG	CODON|p.A499V|c.1496C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious_low_confidence(0.05)	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Pro500Ser,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	1498	122	172	SUCCESS
HAVCR2	84868	.	GRCh37	5	156522415	156522415	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374018243	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	73	108	1	ENST00000307851.4:c.578G>T	p.Arg193Leu	p.R193L	ENST00000307851	NM_032782.4	193	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS4333.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCGTAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498	.	T:0.0002	ENSP00000312002	.	5/7	.	.	.	.	.	.	.	.	rs374018243	5/7	PASS	ENST00000307851	Transcript	.	.	ENSG00000135077	18437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	HAVR2_HUMAN	HAVCR2	HGNC	E5RFR4_HUMAN	.	UPI000011AAFA	SNV	HAVCR2,missense_variant,p.Arg193Leu,ENST00000307851,;HAVCR2,missense_variant,p.Arg165Leu,ENST00000522593,;HAVCR2,downstream_gene_variant,,ENST00000524219,;HAVCR2,downstream_gene_variant,,ENST00000521665,;	1309	109	155	SUCCESS
FAM71B	153745	.	GRCh37	5	156590005	156590005	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	76	0	ENST00000302938.4:c.1271T>A	p.Val424Asp	p.V424D	ENST00000302938	NM_130899.2	424	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS4335.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGACTTCA	NONE	.	.	hmmpanther:PTHR22574:SF2,hmmpanther:PTHR22574	.	.	ENSP00000305596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302938	Transcript	.	.	ENSG00000170613	28397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	FA71B_HUMAN	FAM71B	HGNC	.	.	UPI000006F9DC	SNV	FAM71B,missense_variant,p.Val424Asp,ENST00000302938,;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	1367	76	90	SUCCESS
MYO10	4651	.	GRCh37	5	16682120	16682120	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	25	0	ENST00000513610.1:c.4049C>T	p.Pro1350Leu	p.P1350L	ENST00000513610	NM_012334.2	1350	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54834.1	4049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGGGTCTG	NONE	.	.	Superfamily_domains:SSF50729,Gene3D:2.30.29.30	.	.	ENSP00000421280	.	31/41	.	.	.	.	.	.	.	.	.	31/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	deleterious(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Pro1350Leu,ENST00000513610,;MYO10,missense_variant,p.Pro707Leu,ENST00000274203,;MYO10,missense_variant,p.Pro707Leu,ENST00000427430,;MYO10,missense_variant,p.Pro689Leu,ENST00000515803,;MYO10,missense_variant,p.Pro689Leu,ENST00000505695,;	4504	25	35	SUCCESS
KIAA1191	57179	.	GRCh37	5	175774922	175774922	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	40	102	0	ENST00000298569.4:c.709+2T>G		p.X237_splice	ENST00000298569	NM_020444.3	237		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4399.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTACCAGA	NONE	.	.	.	.	.	ENSP00000298569	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298569	Transcript	.	.	ENSG00000122203	29209	.	.	HIGH	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P33MX_HUMAN	KIAA1191	HGNC	D6RF63_HUMAN,D6RCE3_HUMAN,D6RAJ7_HUMAN	.	UPI0000070560	SNV	KIAA1191,splice_donor_variant,,ENST00000393725,;KIAA1191,splice_donor_variant,,ENST00000510164,;KIAA1191,splice_donor_variant,,ENST00000298569,;KIAA1191,downstream_gene_variant,,ENST00000504688,;KIAA1191,downstream_gene_variant,,ENST00000506983,;SIMC1,downstream_gene_variant,,ENST00000443967,;KIAA1191,downstream_gene_variant,,ENST00000533553,;SIMC1,downstream_gene_variant,,ENST00000430704,;SIMC1,downstream_gene_variant,,ENST00000332772,;SIMC1,downstream_gene_variant,,ENST00000341199,;KIAA1191,downstream_gene_variant,,ENST00000503082,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,splice_donor_variant,,ENST00000393728,;	.	102	151	SUCCESS
TRIM52	84851	.	GRCh37	5	180684462	180684462	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	39	135	0	ENST00000327767.4:c.847C>A	p.Leu283Ile	p.L283I	ENST00000327767	NM_032765.2	283	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS4467.1	847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGTATTC	BUFFER|p.I282T|c.845T>C|3	.	.	hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103	.	.	ENSP00000332152	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327767	Transcript	.	.	ENSG00000183718	19024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.55)	.	TRI52_HUMAN	TRIM52	HGNC	L0CQ38_HUMAN	.	UPI0000072D52	SNV	TRIM52,missense_variant,p.Leu283Ile,ENST00000327767,;AC008443.1,3_prime_UTR_variant,,ENST00000599439,;CTC-338M12.4,non_coding_transcript_exon_variant,,ENST00000505151,;CTC-338M12.4,non_coding_transcript_exon_variant,,ENST00000417281,;CTC-338M12.4,intron_variant,,ENST00000511331,;CTC-338M12.4,downstream_gene_variant,,ENST00000506340,;TRIM52-AS1,upstream_gene_variant,,ENST00000507434,;TRIM52-AS1,upstream_gene_variant,,ENST00000514146,;TRIM52-AS1,upstream_gene_variant,,ENST00000509252,;TRIM52,intron_variant,,ENST00000510796,;TRIM52,intron_variant,,ENST00000503005,;TRIM52,intron_variant,,ENST00000513146,;TRIM52,downstream_gene_variant,,ENST00000514805,;	1152	135	207	SUCCESS
GPR98	0	.	GRCh37	5	89925133	89925133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	137	177	0	ENST00000405460.2:c.1616T>C	p.Leu539Ser	p.L539S	ENST00000405460	NM_032119.3	539	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS47246.1	1616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTGAGTT	NONE	.	.	Superfamily_domains:SSF141072,Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	9/90	.	.	.	.	.	.	.	.	.	9/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Leu539Ser,ENST00000405460,;GPR98,missense_variant,p.Leu128Ser,ENST00000504142,;	1712	177	288	SUCCESS
PRDM1	639	.	GRCh37	6	106553643	106553643	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	45	147	0	ENST00000369096.4:c.1608A>T	p.Ala536=	p.A536=	ENST00000369096	NM_001198.3	536	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5054.2	1608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAGCGAT	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,PIRSF_domain:PIRSF013212	.	.	ENSP00000358092	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000369096	Transcript	.	.	ENSG00000057657	9346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM1_HUMAN	PRDM1	HGNC	Q5T4E8_HUMAN,B2REA5_HUMAN	.	UPI0000D49069	SNV	PRDM1,synonymous_variant,p.%3D,ENST00000369096,;PRDM1,synonymous_variant,p.%3D,ENST00000369091,;PRDM1,synonymous_variant,p.%3D,ENST00000369089,;PRDM1,downstream_gene_variant,,ENST00000450060,;	1842	147	115	SUCCESS
REV3L	5980	.	GRCh37	6	111688372	111688372	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	131	0	ENST00000358835.3:c.6619A>T	p.Arg2207Ter	p.R2207*	ENST00000358835		2207	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5091.2	6619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTCTGTA	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	15/33	.	.	.	.	.	.	.	.	.	15/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,stop_gained,p.Arg2129Ter,ENST00000435970,;REV3L,stop_gained,p.Arg2207Ter,ENST00000358835,;REV3L,stop_gained,p.Arg2207Ter,ENST00000368802,;REV3L,stop_gained,p.Arg2207Ter,ENST00000368805,;REV3L,stop_gained,p.Arg64Ter,ENST00000413831,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	7074	131	76	SUCCESS
REV3L	5980	.	GRCh37	6	111693804	111693804	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	91	0	ENST00000358835.3:c.5754G>A	p.Lys1918=	p.K1918=	ENST00000358835		1918	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5091.2	5754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCTTTTC	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,synonymous_variant,p.%3D,ENST00000435970,;REV3L,synonymous_variant,p.%3D,ENST00000358835,;REV3L,synonymous_variant,p.%3D,ENST00000368802,;REV3L,synonymous_variant,p.%3D,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	6209	91	68	SUCCESS
ROS1	6098	.	GRCh37	6	117686251	117686251	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	135	0	ENST00000368508.3:c.3090A>T	p.Thr1030=	p.T1030=	ENST00000368508	NM_002944.2	1030	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5116.1	3090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGTTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000357494	.	20/43	.	.	.	.	.	.	.	.	.	20/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,synonymous_variant,p.%3D,ENST00000368507,;ROS1,synonymous_variant,p.%3D,ENST00000368508,;GOPC,intron_variant,,ENST00000467125,;	3289	135	91	SUCCESS
ROS1	6098	.	GRCh37	6	117746858	117746858	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	107	0	ENST00000368508.3:c.-39A>T		p.*13*	ENST00000368508	NM_002944.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5116.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAATTTTCT	NONE	.	.	.	.	.	ENSP00000357494	.	1/43	.	.	.	.	.	.	.	.	.	1/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,5_prime_UTR_variant,,ENST00000368507,;ROS1,5_prime_UTR_variant,,ENST00000368508,;GOPC,intron_variant,,ENST00000467125,;	161	107	64	SUCCESS
MED23	9439	.	GRCh37	6	131910712	131910712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	47	206	0	ENST00000368068.3:c.3832C>A	p.Leu1278Met	p.L1278M	ENST00000368068	NM_004830.3	1278	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5147.1	3832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCATGT	NONE	.	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,missense_variant,p.Leu919Met,ENST00000545957,;MED23,missense_variant,p.Leu1278Met,ENST00000368068,;MED23,missense_variant,p.Leu1284Met,ENST00000354577,;MED23,missense_variant,p.Leu1284Met,ENST00000403834,;MED23,missense_variant,p.Leu1278Met,ENST00000368060,;MED23,missense_variant,p.Leu1284Met,ENST00000368058,;MED23,non_coding_transcript_exon_variant,,ENST00000479213,;MED23,downstream_gene_variant,,ENST00000484885,;	4012	206	131	SUCCESS
AHI1	54806	.	GRCh37	6	135715921	135715921	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	126	0	ENST00000265602.6:c.3102T>G	p.Thr1034=	p.T1034=	ENST00000265602	NM_001134831.1	1034	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS47483.1	3102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGAGTGAA	NONE	.	.	hmmpanther:PTHR22847:SF50,hmmpanther:PTHR22847	.	.	ENSP00000356774	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000367800	Transcript	.	.	ENSG00000135541	21575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHI1_HUMAN	AHI1	HGNC	.	.	UPI00000701FB	SNV	AHI1,synonymous_variant,p.%3D,ENST00000265602,;AHI1,synonymous_variant,p.%3D,ENST00000457866,;AHI1,synonymous_variant,p.%3D,ENST00000529865,;AHI1,synonymous_variant,p.%3D,ENST00000327035,;AHI1,synonymous_variant,p.%3D,ENST00000367799,;AHI1,synonymous_variant,p.%3D,ENST00000367800,;AHI1,synonymous_variant,p.%3D,ENST00000417892,;AHI1,synonymous_variant,p.%3D,ENST00000475846,;AHI1,3_prime_UTR_variant,,ENST00000531788,;	3319	126	103	SUCCESS
SCAF8	22828	.	GRCh37	6	155145419	155145419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	81	0	ENST00000367178.3:c.1978C>A	p.Pro660Thr	p.P660T	ENST00000367178	NM_014892.3	660	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS5247.1	1978	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCCTGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124	.	.	ENSP00000356146	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000367178	Transcript	.	.	ENSG00000213079	20959	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SCAF8_HUMAN	SCAF8	HGNC	Q9H8B2_HUMAN,Q8NDE9_HUMAN	.	UPI0000070A1C	SNV	SCAF8,missense_variant,p.Pro726Thr,ENST00000367186,;SCAF8,missense_variant,p.Pro660Thr,ENST00000367178,;SCAF8,missense_variant,p.Pro660Thr,ENST00000417268,;RNU6-824P,downstream_gene_variant,,ENST00000363724,;SCAF8,intron_variant,,ENST00000479234,;	2554	81	72	SUCCESS
RPS6KA2	6196	.	GRCh37	6	166862319	166862319	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	70	0	ENST00000265678.4:c.1225A>T	p.Ile409Phe	p.I409F	ENST00000265678	NM_021135.4	409	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS34570.1	1249	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATGTTGT	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25	.	.	ENSP00000427015	.	15/22	.	.	.	.	.	.	.	.	COSM326397,COSM326398	15/22	PASS	ENST00000503859	Transcript	.	.	ENSG00000071242	10431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.019)	.	tolerated(0.72)	1,1	KS6A2_HUMAN	RPS6KA2	HGNC	D6RHW7_HUMAN,D6RD75_HUMAN,D6R910_HUMAN,B7Z3B5_HUMAN	.	UPI000020D48C	SNV	RPS6KA2,missense_variant,p.Ile320Phe,ENST00000481261,;RPS6KA2,missense_variant,p.Ile320Phe,ENST00000405189,;RPS6KA2,missense_variant,p.Ile409Phe,ENST00000265678,;RPS6KA2,missense_variant,p.Ile417Phe,ENST00000503859,;RPS6KA2,missense_variant,p.Ile434Phe,ENST00000510118,;RPS6KA2,non_coding_transcript_exon_variant,,ENST00000491836,;	1630	70	44	SUCCESS
THBS2	7058	.	GRCh37	6	169639734	169639734	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	53	0	ENST00000366787.3:c.1089A>G	p.Pro363=	p.P363=	ENST00000366787	NM_003247.2	363	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34574.1	1089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATGGACT	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000355751	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,synonymous_variant,p.%3D,ENST00000366787,;XXyac-YX65C7_A.2,downstream_gene_variant,,ENST00000444188,;THBS2,upstream_gene_variant,,ENST00000461848,;	1339	53	37	SUCCESS
SLC17A3	10786	.	GRCh37	6	25850686	25850686	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs773136308	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	39	149	0	ENST00000360657.3:c.759+1G>A		p.X253_splice	ENST00000360657		253		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47385.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACGTCTC	NONE	byFrequency	.	.	.	.	ENSP00000380250	.	.	.	.	.	.	.	.	.	.	rs773136308	.	PASS	ENST00000397060	Transcript	.	.	ENSG00000124564	10931	.	.	HIGH	8/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT4_HUMAN	SLC17A3	HGNC	H0Y9F7_HUMAN	.	UPI0001536779	SNV	SLC17A3,splice_donor_variant,,ENST00000360657,;SLC17A3,splice_donor_variant,,ENST00000397060,;SLC17A3,splice_donor_variant,,ENST00000361703,;SLC17A3,upstream_gene_variant,,ENST00000505420,;SLC17A3,upstream_gene_variant,,ENST00000481949,;SLC17A3,3_prime_UTR_variant,,ENST00000506105,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000503922,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000509714,;SLC17A3,downstream_gene_variant,,ENST00000308453,;SLC17A3,downstream_gene_variant,,ENST00000449356,;	.	149	149	SUCCESS
HIST1H2BE	0	.	GRCh37	6	26184113	26184113	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	39	136	0	ENST00000356530.3:c.90C>G	p.Arg30=	p.R30=	ENST00000356530	NM_003523.2	30	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS4588.1	90	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGCAAGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113	.	.	ENSP00000348924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356530	Transcript	.	.	ENSG00000197697	4753	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BE	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BE,synonymous_variant,p.%3D,ENST00000356530,;HIST1H4D,downstream_gene_variant,,ENST00000340756,;	156	136	151	SUCCESS
FANCE	2178	.	GRCh37	6	35428340	35428340	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	70	0	ENST00000229769.2:c.1328A>G	p.Glu443Gly	p.E443G	ENST00000229769	NM_021922.2	443	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4805.1	1328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGAGCTGC	NONE	.	.	hmmpanther:PTHR32094,Pfam_domain:PF11510	.	.	ENSP00000229769	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000229769	Transcript	.	.	ENSG00000112039	3586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.479)	.	deleterious(0)	.	FANCE_HUMAN	FANCE	HGNC	.	.	UPI000000DB76	SNV	FANCE,missense_variant,p.Glu443Gly,ENST00000229769,;	1513	70	99	SUCCESS
MDGA1	266727	.	GRCh37	6	37611713	37611713	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	58	0	ENST00000434837.3:c.2408A>G	p.Tyr803Cys	p.Y803C	ENST00000434837	NM_153487.3	803	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47417.1	2408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTAGTAG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50060	.	.	ENSP00000402584	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	SNV	MDGA1,missense_variant,p.Tyr113Cys,ENST00000418178,;MDGA1,missense_variant,p.Tyr803Cys,ENST00000505425,;MDGA1,missense_variant,p.Tyr807Cys,ENST00000297153,;MDGA1,missense_variant,p.Tyr803Cys,ENST00000434837,;MDGA1,downstream_gene_variant,,ENST00000510077,;MDGA1,upstream_gene_variant,,ENST00000503419,;MDGA1,3_prime_UTR_variant,,ENST00000502298,;MDGA1,upstream_gene_variant,,ENST00000373401,;	3587	58	73	SUCCESS
KIF6	221458	.	GRCh37	6	39311593	39311593	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	82	0	ENST00000287152.7:c.2322-2A>T		p.X774_splice	ENST00000287152	NM_145027.4	774		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4844.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTGGAGG	NONE	.	.	.	.	.	ENSP00000287152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	HIGH	21/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,splice_acceptor_variant,,ENST00000394362,;KIF6,splice_acceptor_variant,,ENST00000287152,;KIF6,splice_acceptor_variant,,ENST00000373213,;KIF6,splice_acceptor_variant,,ENST00000373215,;KIF6,splice_acceptor_variant,,ENST00000373216,;KIF6,splice_acceptor_variant,,ENST00000229913,;KIF6,splice_acceptor_variant,,ENST00000541946,;KIF6,splice_acceptor_variant,,ENST00000458470,;KIF6,splice_acceptor_variant,,ENST00000538893,;	.	82	70	SUCCESS
TRERF1	55809	.	GRCh37	6	42200563	42200563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	34	0	ENST00000372922.4:c.3134A>G	p.Lys1045Arg	p.K1045R	ENST00000372922	NM_033502.2	1045	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS4867.1	3134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTTGGTC	NONE	.	.	hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.03)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Lys1065Arg,ENST00000541110,;TRERF1,missense_variant,p.Lys974Arg,ENST00000340840,;TRERF1,missense_variant,p.Lys1045Arg,ENST00000372922,;TRERF1,missense_variant,p.Lys974Arg,ENST00000372917,;TRERF1,missense_variant,p.Lys962Arg,ENST00000354325,;	3697	34	49	SUCCESS
PTCHD4	442213	.	GRCh37	6	47846685	47846685	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	48	0	ENST00000339488.4:c.1895T>A	p.Leu632Gln	p.L632Q	ENST00000339488	NM_001013732.3	632	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS34473.2	1895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATAGGGGC	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866	.	.	ENSP00000341914	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,missense_variant,p.Leu632Gln,ENST00000339488,;	1929	48	51	SUCCESS
PPP1R3G	648791	.	GRCh37	6	5086148	5086148	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	17	0	ENST00000405617.2:c.429C>A	p.Ala143=	p.A143=	ENST00000405617	NM_001145115.1	143	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47366.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCAGCGT	NONE	.	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF10	.	.	ENSP00000393832	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000405617	Transcript	.	.	ENSG00000219607	14945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP13G_HUMAN	PPP1R3G	HGNC	.	.	UPI0000237382	SNV	PPP1R3G,synonymous_variant,p.%3D,ENST00000405617,;	429	17	17	SUCCESS
PKHD1	5314	.	GRCh37	6	51923279	51923279	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs201989004	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	49	0	ENST00000371117.3:c.1354T>A	p.Tyr452Asn	p.Y452N	ENST00000371117	NM_138694.3	452	Tac/Aac	0	.	G:0	.	G:0.0014	.	T	Y/N	protein_coding	YES	CCDS4935.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTACATGG	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000360158	G:0	16/67	.	.	.	.	.	.	.	.	rs201989004	16/67	PASS	ENST00000371117	Transcript	.	G:0.0002	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	G:0	deleterious(0)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Tyr452Asn,ENST00000340994,;PKHD1,missense_variant,p.Tyr452Asn,ENST00000371117,;AL590391.1,downstream_gene_variant,,ENST00000408630,;	1630	49	99	SUCCESS
COL9A1	1297	.	GRCh37	6	70981793	70981793	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	254	104	370	0	ENST00000357250.6:c.1066-2A>T		p.X356_splice	ENST00000357250	NM_001851.4	356		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4971.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTAAAAG	NONE	.	.	.	.	.	ENSP00000349790	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	HIGH	12/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,splice_acceptor_variant,,ENST00000320755,;COL9A1,splice_acceptor_variant,,ENST00000357250,;COL9A1,intron_variant,,ENST00000370499,;COL9A1,splice_acceptor_variant,,ENST00000489611,;COL9A1,downstream_gene_variant,,ENST00000470652,;	.	370	358	SUCCESS
B3GAT2	135152	.	GRCh37	6	71665601	71665601	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778874580	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	105	0	ENST00000230053.6:c.532C>A	p.Pro178Thr	p.P178T	ENST00000230053	NM_080742.2	178	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS4974.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGGCTGCG	NONE	byFrequency	.	hmmpanther:PTHR10896:SF8,hmmpanther:PTHR10896,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448	.	.	ENSP00000230053	.	1/4	.	.	.	.	.	.	.	.	rs778874580	1/4	PASS	ENST00000230053	Transcript	.	.	ENSG00000112309	922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.06)	.	B3GA2_HUMAN	B3GAT2	HGNC	A8K1V3_HUMAN	.	UPI000012670C	SNV	B3GAT2,missense_variant,p.Pro178Thr,ENST00000230053,;	1141	105	117	SUCCESS
PHIP	55023	.	GRCh37	6	79688417	79688417	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	148	0	ENST00000275034.4:c.2781G>C	p.Val927=	p.V927=	ENST00000275034	NM_017934.5	927	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4987.1	2781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCCACAGC	NONE	.	.	hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	.	.	ENSP00000275034	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,synonymous_variant,p.%3D,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	2949	148	89	SUCCESS
MDN1	23195	.	GRCh37	6	90388402	90388402	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764180409	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	113	0	ENST00000369393.3:c.12328G>A	p.Glu4110Lys	p.E4110K	ENST00000369393		4110	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5024.1	12328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCCTTCT	NONE	byFrequency	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	75/102	.	.	.	.	.	.	.	.	rs764180409	75/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Glu4110Lys,ENST00000369393,;MDN1,missense_variant,p.Glu4110Lys,ENST00000428876,;RP1-122O8.7,downstream_gene_variant,,ENST00000438877,;	12444	113	100	SUCCESS
KLHL32	114792	.	GRCh37	6	97512550	97512550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	89	0	ENST00000369261.4:c.359G>T	p.Ser120Ile	p.S120I	ENST00000369261	NM_052904.3	120	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS5038.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGTCACC	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,missense_variant,p.Ser16Ile,ENST00000447886,;KLHL32,missense_variant,p.Ser120Ile,ENST00000369254,;KLHL32,missense_variant,p.Ser84Ile,ENST00000536676,;KLHL32,missense_variant,p.Ser120Ile,ENST00000369261,;KLHL32,5_prime_UTR_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000539200,;	722	89	85	SUCCESS
FBXL4	26235	.	GRCh37	6	99374696	99374696	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	121	0	ENST00000229971.1:c.169G>T	p.Glu57Ter	p.E57*	ENST00000229971	NM_012160.4	57	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5041.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCTTTGG	NONE	.	.	hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,stop_gained,p.Glu57Ter,ENST00000229971,;FBXL4,stop_gained,p.Glu57Ter,ENST00000369244,;	598	121	82	SUCCESS
COL26A1	136227	.	GRCh37	7	101176396	101176396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	50	0	ENST00000313669.7:c.419G>T	p.Ser140Ile	p.S140I	ENST00000313669	NM_001278563.1	140	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	.	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAGTGAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24023:SF95,hmmpanther:PTHR24023	.	.	ENSP00000318234	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000313669	Transcript	.	.	ENSG00000160963	18038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	deleterious(0.01)	.	.	COL26A1	HGNC	C9JPW4_HUMAN	.	UPI00004575C9	SNV	COL26A1,missense_variant,p.Ser140Ile,ENST00000313669,;COL26A1,missense_variant,p.Ser138Ile,ENST00000528707,;COL26A1,missense_variant,p.Ser140Ile,ENST00000397927,;	611	50	42	SUCCESS
DNAJC2	27000	.	GRCh37	7	102953436	102953436	+	synonymous_variant	Silent	SNP	C	C	T	rs772238229	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	52	171	0	ENST00000379263.3:c.1749G>A	p.Ala583=	p.A583=	ENST00000379263	NM_014377.1	583	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43628.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCGCTTC	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67,Gene3D:1.10.10.60,Pfam_domain:PF00249,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000368565	.	16/17	.	.	.	.	.	.	.	.	rs772238229	16/17	PASS	ENST00000379263	Transcript	.	.	ENSG00000105821	13192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJC2_HUMAN	DNAJC2	HGNC	Q08AR5_HUMAN,C9IZ83_HUMAN	.	UPI000020F858	SNV	DNAJC2,synonymous_variant,p.%3D,ENST00000249270,;DNAJC2,synonymous_variant,p.%3D,ENST00000379263,;PMPCB,3_prime_UTR_variant,,ENST00000249269,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	2000	171	145	SUCCESS
DOCK4	9732	.	GRCh37	7	111575684	111575684	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	51	192	0	ENST00000437633.1:c.978-1G>C		p.X326_splice	ENST00000437633	NM_014705.3	326		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACCTATGA	NONE	.	.	.	.	.	ENSP00000404179	.	.	.	.	.	.	.	.	.	.	COSM393752	.	PASS	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	HIGH	11/51	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,splice_acceptor_variant,,ENST00000445943,;DOCK4,splice_acceptor_variant,,ENST00000428084,;DOCK4,splice_acceptor_variant,,ENST00000437633,;DOCK4,splice_acceptor_variant,,ENST00000476846,;	.	192	195	SUCCESS
ASB15	142685	.	GRCh37	7	123269106	123269106	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1376721710	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	66	204	1	ENST00000275699.3:c.1058C>T	p.Ala353Val	p.A353V	ENST00000275699	NM_080928.3	353	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34742.1	1058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCGCTGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24188:SF0,hmmpanther:PTHR24188,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000397655	.	12/14	.	.	.	.	.	.	.	.	COSM1319036	12/14	PASS	ENST00000451558	Transcript	.	.	ENSG00000146809	19767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.721)	.	tolerated(0.07)	1	ASB15_HUMAN	ASB15	HGNC	C9J956_HUMAN	.	UPI000022D0FF	SNV	ASB15,missense_variant,p.Ala353Val,ENST00000275699,;ASB15,missense_variant,p.Ala353Val,ENST00000540573,;ASB15,missense_variant,p.Ala353Val,ENST00000434204,;ASB15,missense_variant,p.Ala353Val,ENST00000451558,;ASB15,missense_variant,p.Ala353Val,ENST00000451215,;ASB15,downstream_gene_variant,,ENST00000447789,;RP11-390E23.3,upstream_gene_variant,,ENST00000429396,;RP11-390E23.3,upstream_gene_variant,,ENST00000418409,;RP11-390E23.3,upstream_gene_variant,,ENST00000440504,;RP11-390E23.3,upstream_gene_variant,,ENST00000422401,;RP11-390E23.3,upstream_gene_variant,,ENST00000451016,;	1579	205	224	SUCCESS
CLCN1	1180	.	GRCh37	7	143043750	143043750	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs199610988	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	28	0	ENST00000343257.2:c.2363A>T	p.Gln788Leu	p.Q788L	ENST00000343257	NM_000083.2	788	cAg/cTg	0	.	C:0	.	C:0.0043	.	T	Q/L	protein_coding	YES	CCDS5881.1	2363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCAGGTGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	C:0	.	ENSP00000339867	C:0	19/23	.	.	.	.	.	.	.	.	rs199610988	19/23	PASS	ENST00000343257	Transcript	.	C:0.0006	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	C:0	tolerated(0.09)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Gln788Leu,ENST00000343257,;	2450	28	36	SUCCESS
NOBOX	135935	.	GRCh37	7	144096937	144096937	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749172175	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	81	0	ENST00000467773.1:c.1067G>T	p.Arg356Leu	p.R356L	ENST00000467773	NM_001080413.3	356	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	.	1067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCGGCGA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF282,hmmpanther:PTHR24329,Gene3D:1.10.10.60,SMART_domains:SM00389	.	.	ENSP00000419457	.	6/10	.	.	.	.	.	.	.	.	rs749172175	6/10	PASS	ENST00000467773	Transcript	.	.	ENSG00000106410	22448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NOBOX_HUMAN	NOBOX	HGNC	.	.	UPI00019B220B	SNV	NOBOX,missense_variant,p.Arg239Leu,ENST00000223140,;NOBOX,missense_variant,p.Arg324Leu,ENST00000483238,;NOBOX,missense_variant,p.Arg356Leu,ENST00000467773,;	1067	81	74	SUCCESS
KMT2C	58508	.	GRCh37	7	151873528	151873528	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	39	101	0	ENST00000262189.6:c.9010C>G	p.Leu3004Val	p.L3004V	ENST00000262189	NM_170606.2	3004	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS5931.1	9010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGACTGT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	38/59	.	.	.	.	.	.	.	.	.	38/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Leu3004Val,ENST00000355193,;KMT2C,missense_variant,p.Leu510Val,ENST00000360104,;KMT2C,missense_variant,p.Leu3004Val,ENST00000262189,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	9229	101	143	SUCCESS
MAD1L1	8379	.	GRCh37	7	2252879	2252879	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	43	0	ENST00000265854.7:c.954G>A	p.Glu318=	p.E318=	ENST00000265854		318	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43539.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCTCCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0,Pfam_domain:PF05557	.	.	ENSP00000385334	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000406869	Transcript	.	.	ENSG00000002822	6762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MD1L1_HUMAN	MAD1L1	HGNC	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN	.	UPI0000072C4D	SNV	MAD1L1,synonymous_variant,p.%3D,ENST00000445959,;MAD1L1,synonymous_variant,p.%3D,ENST00000402746,;MAD1L1,synonymous_variant,p.%3D,ENST00000399654,;MAD1L1,synonymous_variant,p.%3D,ENST00000406869,;MAD1L1,synonymous_variant,p.%3D,ENST00000265854,;MAD1L1,downstream_gene_variant,,ENST00000429625,;MAD1L1,non_coding_transcript_exon_variant,,ENST00000469871,;MAD1L1,non_coding_transcript_exon_variant,,ENST00000486340,;MAD1L1,upstream_gene_variant,,ENST00000459731,;	1512	43	44	SUCCESS
CARD11	84433	.	GRCh37	7	2951897	2951897	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	79	0	ENST00000396946.4:c.3053A>G	p.Gln1018Arg	p.Q1018R	ENST00000396946	NM_032415.4	1018	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5336.2	3053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGCCTT	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10,Superfamily_domains:SSF52540	.	.	ENSP00000380150	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated(0.08)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Gln1018Arg,ENST00000396946,;	3457	79	97	SUCCESS
NPSR1	387129	.	GRCh37	7	34917718	34917718	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	65	217	0	ENST00000359791.1:c.1056T>A	p.Ala352=	p.A352=	ENST00000359791	NM_207173.1	352	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5443.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGCGCT	NONE	.	.	.	.	.	ENSP00000352839	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000359791	Transcript	.	.	ENSG00000187258	23631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,synonymous_variant,p.%3D,ENST00000359791,;NPSR1,synonymous_variant,p.%3D,ENST00000531252,;	1184	217	227	SUCCESS
GPR141	353345	.	GRCh37	7	37780305	37780305	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	108	0	ENST00000334425.1:c.310C>G	p.Leu104Val	p.L104V	ENST00000334425	NM_181791.1	104	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS5451.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCCTATTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000390410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000447769	Transcript	.	.	ENSG00000187037	19997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	tolerated(0.24)	.	GP141_HUMAN	GPR141	HGNC	C9JDP7_HUMAN	.	UPI000004B92B	SNV	GPR141,missense_variant,p.Leu104Val,ENST00000450180,;GPR141,missense_variant,p.Leu104Val,ENST00000334425,;GPR141,missense_variant,p.Leu104Val,ENST00000447769,;EPDR1,intron_variant,,ENST00000476620,;GPR141,intron_variant,,ENST00000461610,;	599	108	116	SUCCESS
NACAD	23148	.	GRCh37	7	45120738	45120738	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	95	0	ENST00000490531.2:c.4382A>T	p.Tyr1461Phe	p.Y1461F	ENST00000490531	NM_001146334.1	1461	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS47582.1	4382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATAAGTG	NONE	.	.	Pfam_domain:PF01849,hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713,PROSITE_profiles:PS51151	.	.	ENSP00000420477	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Tyr1461Phe,ENST00000490531,;CCM2,downstream_gene_variant,,ENST00000474617,;CCM2,downstream_gene_variant,,ENST00000541586,;CCM2,downstream_gene_variant,,ENST00000381112,;CCM2,downstream_gene_variant,,ENST00000544363,;CCM2,downstream_gene_variant,,ENST00000258781,;CCM2,downstream_gene_variant,,ENST00000475551,;CCM2,downstream_gene_variant,,ENST00000461377,;NACAD,non_coding_transcript_exon_variant,,ENST00000460409,;CCM2,downstream_gene_variant,,ENST00000477605,;CCM2,downstream_gene_variant,,ENST00000488727,;CCM2,downstream_gene_variant,,ENST00000481194,;	4402	95	103	SUCCESS
PKD1L1	168507	.	GRCh37	7	47886593	47886593	+	synonymous_variant	Silent	SNP	T	T	A	rs777582396	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	104	292	0	ENST00000289672.2:c.5037A>T	p.Ala1679=	p.A1679=	ENST00000289672	NM_138295.3	1679	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34633.1	5037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTGCCTT	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	32/57	.	.	.	.	.	.	.	.	rs777582396	32/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,synonymous_variant,p.%3D,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	5088	292	302	SUCCESS
DDC	1644	.	GRCh37	7	50611801	50611801	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	89	0	ENST00000357936.5:c.-18T>A		p.*6*	ENST00000357936	NM_000790.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5511.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCAGAGGT	NONE	.	.	.	.	.	ENSP00000403644	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000444124	Transcript	.	.	ENSG00000132437	2719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDC_HUMAN	DDC	HGNC	C9JMP0_HUMAN	.	UPI000013F150	SNV	DDC,5_prime_UTR_variant,,ENST00000426377,;DDC,5_prime_UTR_variant,,ENST00000444124,;DDC,5_prime_UTR_variant,,ENST00000380984,;DDC,5_prime_UTR_variant,,ENST00000420203,;DDC,5_prime_UTR_variant,,ENST00000431062,;DDC,5_prime_UTR_variant,,ENST00000357936,;DDC,upstream_gene_variant,,ENST00000430300,;AC018705.5,downstream_gene_variant,,ENST00000454521,;DDC,upstream_gene_variant,,ENST00000489162,;DDC,5_prime_UTR_variant,,ENST00000444733,;	184	89	96	SUCCESS
SLC29A4	222962	.	GRCh37	7	5336621	5336621	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757496111	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	32	0	ENST00000297195.4:c.674C>G	p.Pro225Arg	p.P225R	ENST00000297195	NM_001040661.1	225	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS5340.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCCGACG	NONE	.	.	hmmpanther:PTHR10332:SF4,hmmpanther:PTHR10332,Pfam_domain:PF01733,Superfamily_domains:SSF103473	.	.	ENSP00000380081	.	7/11	.	.	.	.	.	.	.	.	rs757496111	7/11	PASS	ENST00000396872	Transcript	.	.	ENSG00000164638	23097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.1)	.	S29A4_HUMAN	SLC29A4	HGNC	C9IYM7_HUMAN	.	UPI0000051F6F	SNV	SLC29A4,missense_variant,p.Pro225Arg,ENST00000297195,;SLC29A4,missense_variant,p.Pro225Arg,ENST00000396872,;SLC29A4,missense_variant,p.Pro211Arg,ENST00000406453,;SLC29A4,upstream_gene_variant,,ENST00000439491,;	835	32	42	SUCCESS
FZD9	8326	.	GRCh37	7	72849306	72849306	+	synonymous_variant	Silent	SNP	C	C	T	rs144961735	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	49	0	ENST00000344575.3:c.969C>T	p.Phe323=	p.F323=	ENST00000344575	NM_003508.2	323	ttC/ttT	0	T:0.0005	.	.	.	.	T	F	protein_coding	YES	CCDS5548.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCGGCAT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Pfam_domain:PF01534,Prints_domain:PR00489	.	T:0	ENSP00000345785	.	1/1	.	.	.	.	.	.	.	.	rs144961735	1/1	PASS	ENST00000344575	Transcript	.	.	ENSG00000188763	4047	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD9_HUMAN	FZD9	HGNC	.	.	UPI000004EC98	SNV	FZD9,synonymous_variant,p.%3D,ENST00000344575,;	1198	49	55	SUCCESS
HIP1	3092	.	GRCh37	7	75176292	75176292	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	77	0	ENST00000336926.6:c.2504A>T	p.Gln835Leu	p.Q835L	ENST00000336926	NM_005338.6	835	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34669.1	2504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTGAATA	NONE	.	.	PROSITE_profiles:PS50945,hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407,Gene3D:1r0dB00,SMART_domains:SM00307,Superfamily_domains:SSF109885	.	.	ENSP00000336747	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.02)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Gln835Leu,ENST00000336926,;HIP1,intron_variant,,ENST00000434438,;	2531	77	76	SUCCESS
SEMA3A	10371	.	GRCh37	7	83675692	83675692	+	synonymous_variant	Silent	SNP	A	A	C	rs548421717	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	60	147	0	ENST00000265362.4:c.615T>G	p.Leu205=	p.L205=	ENST00000265362	NM_006080.2	205	ctT/ctG	0	.	G:0.0008	.	G:0	.	C	L	protein_coding	YES	CCDS5599.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAAGAGT	NONE	by1000G	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	G:0	.	ENSP00000265362	G:0	6/17	.	.	.	.	.	.	.	.	rs548421717	6/17	PASS	ENST00000265362	Transcript	.	G:0.0002	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	930	147	204	SUCCESS
SAMD9L	219285	.	GRCh37	7	92763732	92763732	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	68	178	1	ENST00000318238.4:c.1553A>C	p.Gln518Pro	p.Q518P	ENST00000318238	NM_152703.2	518	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34681.1	1553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTGCCAT	NONE	.	.	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	.	.	ENSP00000326247	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000318238	Transcript	.	.	ENSG00000177409	1349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.16)	.	SAM9L_HUMAN	SAMD9L	HGNC	B4E3M1_HUMAN	.	UPI000020F567	SNV	SAMD9L,missense_variant,p.Gln518Pro,ENST00000318238,;SAMD9L,missense_variant,p.Gln518Pro,ENST00000437805,;SAMD9L,missense_variant,p.Gln518Pro,ENST00000411955,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;	2770	179	199	SUCCESS
TRIM4	89122	.	GRCh37	7	99506413	99506413	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	85	0	ENST00000355947.2:c.590T>C	p.Met197Thr	p.M197T	ENST00000355947	NM_033017.3	197	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS5679.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCATTCGC	NONE	.	.	hmmpanther:PTHR24103:SF91,hmmpanther:PTHR24103	.	.	ENSP00000348216	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000355947	Transcript	.	.	ENSG00000146833	16275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.41)	.	TRIM4_HUMAN	TRIM4	HGNC	B4DEC5_HUMAN	.	UPI000013DA79	SNV	TRIM4,missense_variant,p.Met171Thr,ENST00000349062,;TRIM4,missense_variant,p.Met171Thr,ENST00000354241,;TRIM4,missense_variant,p.Met73Thr,ENST00000447480,;TRIM4,missense_variant,p.Met197Thr,ENST00000355947,;TRIM4,non_coding_transcript_exon_variant,,ENST00000496896,;	720	85	92	SUCCESS
STAG3	10734	.	GRCh37	7	99778164	99778164	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	41	0	ENST00000317296.5:c.-16C>A		p.*6*	ENST00000317296	NM_012447.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34703.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGCTCCTC	NONE	.	.	.	.	.	ENSP00000400359	.	2/34	.	.	.	.	.	.	.	.	.	2/34	PASS	ENST00000426455	Transcript	.	.	ENSG00000066923	11356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAG3_HUMAN	STAG3	HGNC	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN	.	UPI000020F6E0	SNV	STAG3,5_prime_UTR_variant,,ENST00000422690,;STAG3,5_prime_UTR_variant,,ENST00000426455,;STAG3,5_prime_UTR_variant,,ENST00000394018,;STAG3,5_prime_UTR_variant,,ENST00000317296,;STAG3,5_prime_UTR_variant,,ENST00000416412,;STAG3,5_prime_UTR_variant,,ENST00000439782,;GPC2,upstream_gene_variant,,ENST00000292377,;GPC2,upstream_gene_variant,,ENST00000480087,;GPC2,upstream_gene_variant,,ENST00000482569,;STAG3,upstream_gene_variant,,ENST00000459699,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,non_coding_transcript_exon_variant,,ENST00000482546,;GPC2,upstream_gene_variant,,ENST00000471717,;GPC2,upstream_gene_variant,,ENST00000490629,;	392	41	47	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110471959	110471959	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	76	263	0	ENST00000378402.5:c.7140A>C	p.Glu2380Asp	p.E2380D	ENST00000378402	NM_177531.4	2380	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS47911.1	7140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAAGCAAG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	.	.	ENSP00000367655	.	47/78	.	.	.	.	.	.	.	.	.	47/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.21)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Glu2380Asp,ENST00000378402,;	7244	263	195	SUCCESS
HAS2	3037	.	GRCh37	8	122626466	122626466	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	157	1	ENST00000303924.4:c.1542T>A	p.Val514=	p.V514=	ENST00000303924	NM_005328.2	514	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6335.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCAACAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7	.	.	ENSP00000306991	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303924	Transcript	.	.	ENSG00000170961	4819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYAS2_HUMAN	HAS2	HGNC	.	.	UPI000012C0A9	SNV	HAS2,synonymous_variant,p.%3D,ENST00000303924,;	2080	158	111	SUCCESS
TSTA3	0	.	GRCh37	8	144698802	144698802	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	78	0	ENST00000425753.2:c.81A>C	p.Val27=	p.V27=	ENST00000425753	NM_003313.3	27	gtA/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6408.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTACCAC	NONE	.	.	HAMAP:MF_00956,hmmpanther:PTHR10366:SF259,hmmpanther:PTHR10366,Gene3D:3.40.50.720,Pfam_domain:PF01370,Superfamily_domains:SSF51735	.	.	ENSP00000398803	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000425753	Transcript	.	.	ENSG00000104522	12390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCL_HUMAN	TSTA3	HGNC	E9PP14_HUMAN,E9PLH9_HUMAN,E9PKL9_HUMAN	.	UPI000012A5A5	SNV	TSTA3,synonymous_variant,p.%3D,ENST00000529048,;TSTA3,synonymous_variant,p.%3D,ENST00000425753,;TSTA3,synonymous_variant,p.%3D,ENST00000529064,;TSTA3,synonymous_variant,p.%3D,ENST00000526290,;TSTA3,synonymous_variant,p.%3D,ENST00000533817,;TSTA3,upstream_gene_variant,,ENST00000524719,;TSTA3,upstream_gene_variant,,ENST00000527006,;TSTA3,synonymous_variant,p.%3D,ENST00000530474,;TSTA3,non_coding_transcript_exon_variant,,ENST00000525274,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531473,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531006,;TSTA3,non_coding_transcript_exon_variant,,ENST00000527549,;TSTA3,non_coding_transcript_exon_variant,,ENST00000532308,;TSTA3,non_coding_transcript_exon_variant,,ENST00000529899,;TSTA3,upstream_gene_variant,,ENST00000528920,;TSTA3,upstream_gene_variant,,ENST00000527677,;	185	78	87	SUCCESS
ANK1	286	.	GRCh37	8	41547821	41547821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	100	0	ENST00000347528.4:c.4028T>A	p.Leu1343Gln	p.L1343Q	ENST00000347528	NM_020477.2	1343	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS47849.1	4151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCAGAAAC	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	.	.	ENSP00000265709	.	34/43	.	.	.	.	.	.	.	.	.	34/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	deleterious(0)	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Leu1384Gln,ENST00000265709,;ANK1,missense_variant,p.Leu1343Gln,ENST00000289734,;ANK1,missense_variant,p.Leu1343Gln,ENST00000347528,;ANK1,missense_variant,p.Leu665Gln,ENST00000520299,;ANK1,missense_variant,p.Leu1343Gln,ENST00000352337,;ANK1,missense_variant,p.Leu1343Gln,ENST00000379758,;ANK1,missense_variant,p.Leu1343Gln,ENST00000396942,;ANK1,missense_variant,p.Leu1343Gln,ENST00000396945,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000518061,;ANK1,downstream_gene_variant,,ENST00000524069,;	4433	100	72	SUCCESS
ST18	9705	.	GRCh37	8	53050033	53050033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	122	0	ENST00000276480.7:c.2179C>A	p.Pro727Thr	p.P727T	ENST00000276480	NM_014682.2	727	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6149.1	2179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTGTTG	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000276480	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,missense_variant,p.Pro727Thr,ENST00000276480,;ST18,non_coding_transcript_exon_variant,,ENST00000518501,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,upstream_gene_variant,,ENST00000522861,;ST18,upstream_gene_variant,,ENST00000518053,;	2863	122	105	SUCCESS
RP1	6101	.	GRCh37	8	55533794	55533794	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779243716	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	96	0	ENST00000220676.1:c.268C>G	p.His90Asp	p.H90D	ENST00000220676	NM_006269.1	90	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS6160.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCACAGC	BUFFER|p.R87W|c.259C>T|3	byFrequency	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Pfam_domain:PF03607,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs779243716	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.His90Asp,ENST00000220676,;	416	96	54	SUCCESS
CHD7	55636	.	GRCh37	8	61769252	61769252	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	64	147	0	ENST00000423902.2:c.7413A>G	p.Ser2471=	p.S2471=	ENST00000423902	NM_017780.3	2471	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47865.1	7413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCAACACC	NONE	.	.	.	.	.	ENSP00000392028	.	34/38	.	.	.	.	.	.	.	.	.	34/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,synonymous_variant,p.%3D,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;CHD7,non_coding_transcript_exon_variant,,ENST00000529472,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000531695,;	7892	147	129	SUCCESS
PEX2	5828	.	GRCh37	8	77895734	77895734	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	74	0	ENST00000357039.4:c.681T>A	p.Leu227=	p.L227=	ENST00000357039	NM_000318.2	227	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6221.1	681	RADIA|MUTECT|MUSE	.	CCAGTAAGAGG	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,synonymous_variant,p.%3D,ENST00000419564,;PEX2,synonymous_variant,p.%3D,ENST00000522527,;PEX2,synonymous_variant,p.%3D,ENST00000520103,;PEX2,synonymous_variant,p.%3D,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1146	74	58	SUCCESS
PEX2	5828	.	GRCh37	8	77895736	77895736	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	72	0	ENST00000357039.4:c.679C>T	p.Leu227Phe	p.L227F	ENST00000357039	NM_000318.2	227	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6221.1	679	RADIA|MUTECT|MUSE	.	AGTAAGAGGAA	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.26)	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,missense_variant,p.Leu227Phe,ENST00000419564,;PEX2,missense_variant,p.Leu227Phe,ENST00000522527,;PEX2,missense_variant,p.Leu227Phe,ENST00000520103,;PEX2,missense_variant,p.Leu227Phe,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1144	72	58	SUCCESS
PEX2	5828	.	GRCh37	8	77895737	77895737	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	72	0	ENST00000357039.4:c.678T>A	p.Pro226=	p.P226=	ENST00000357039	NM_000318.2	226	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6221.1	678	RADIA|MUTECT|MUSE	.	GTAAGAGGAAT	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,synonymous_variant,p.%3D,ENST00000419564,;PEX2,synonymous_variant,p.%3D,ENST00000522527,;PEX2,synonymous_variant,p.%3D,ENST00000520103,;PEX2,synonymous_variant,p.%3D,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1143	72	59	SUCCESS
PSKH2	85481	.	GRCh37	8	87076277	87076277	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	109	1	ENST00000276616.2:c.769A>T	p.Ser257Cys	p.S257C	ENST00000276616	NM_033126.1	257	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS6240.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCTAAGTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF135,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000276616	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000276616	Transcript	.	.	ENSG00000147613	18997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	tolerated(0.53)	.	KPSH2_HUMAN	PSKH2	HGNC	.	.	UPI000006F951	SNV	PSKH2,missense_variant,p.Ser257Cys,ENST00000276616,;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,downstream_gene_variant,,ENST00000523010,;PSKH2,downstream_gene_variant,,ENST00000517981,;	844	111	81	SUCCESS
BRINP1	1620	.	GRCh37	9	121976051	121976051	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	14	0	ENST00000265922.3:c.922+146T>C		p.*308*	ENST00000265922	NM_014618.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6822.1	.	RADIA|MUTECT|MUSE	.	CAGCTATTATA	NONE	.	.	.	.	.	ENSP00000265922	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,3_prime_UTR_variant,,ENST00000373964,;BRINP1,intron_variant,,ENST00000265922,;BRINP1,upstream_gene_variant,,ENST00000482797,;	.	14	10	SUCCESS
GARNL3	84253	.	GRCh37	9	130106562	130106562	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	72	211	0	ENST00000373387.4:c.1300A>G	p.Lys434Glu	p.K434E	ENST00000373387	NM_032293.4	434	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6869.2	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAAGTCA	NONE	.	.	hmmpanther:PTHR15711	.	.	ENSP00000362485	.	15/28	.	.	.	.	.	.	.	.	COSM3375082	15/28	PASS	ENST00000373387	Transcript	.	.	ENSG00000136895	25425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.176)	.	tolerated(0.22)	1	GARL3_HUMAN	GARNL3	HGNC	B4DH81_HUMAN	.	UPI0000EE56F2	SNV	GARNL3,missense_variant,p.Lys434Glu,ENST00000314904,;GARNL3,missense_variant,p.Lys412Glu,ENST00000435213,;GARNL3,missense_variant,p.Lys434Glu,ENST00000373387,;GARNL3,downstream_gene_variant,,ENST00000464616,;GARNL3,missense_variant,p.Lys24Glu,ENST00000460176,;GARNL3,missense_variant,p.Lys416Glu,ENST00000373386,;	1652	211	164	SUCCESS
NUP188	23511	.	GRCh37	9	131763862	131763862	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	30	0	ENST00000372577.2:c.3898G>A	p.Gly1300Ser	p.G1300S	ENST00000372577	NM_015354.2	1300	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS35156.1	3898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGGTGAC	NONE	.	.	hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1	.	.	ENSP00000361658	.	35/44	.	.	.	.	.	.	.	.	.	35/44	PASS	ENST00000372577	Transcript	.	.	ENSG00000095319	17859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.25)	.	NU188_HUMAN	NUP188	HGNC	.	.	UPI000041A60F	SNV	NUP188,missense_variant,p.Gly1300Ser,ENST00000372577,;RP11-167N5.5,downstream_gene_variant,,ENST00000594418,;NUP188,non_coding_transcript_exon_variant,,ENST00000487952,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,downstream_gene_variant,,ENST00000495726,;	3919	30	27	SUCCESS
NELFB	25920	.	GRCh37	9	140160781	140160781	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	122	0	ENST00000343053.4:c.1000-2A>G		p.X334_splice	ENST00000343053	NM_015456.3	334		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGGACA	NONE	.	.	.	.	.	ENSP00000339495	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	HIGH	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,splice_acceptor_variant,,ENST00000343053,;	.	122	85	SUCCESS
CNTLN	54875	.	GRCh37	9	17309125	17309125	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	144	484	0	ENST00000380647.3:c.1216A>T	p.Thr406Ser	p.T406S	ENST00000380647		406	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS43789.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTACTAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.03)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Thr406Ser,ENST00000425824,;CNTLN,missense_variant,p.Thr406Ser,ENST00000262360,;CNTLN,missense_variant,p.Thr406Ser,ENST00000380647,;	1300	484	344	SUCCESS
UBQLN1	29979	.	GRCh37	9	86284174	86284174	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	108	0	ENST00000376395.4:c.1174C>A	p.Gln392Lys	p.Q392K	ENST00000376395	NM_053067.2	392	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS6663.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGCATCA	NONE	.	.	SMART_domains:SM00727,hmmpanther:PTHR10677:SF16,hmmpanther:PTHR10677	.	.	ENSP00000365576	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000376395	Transcript	.	.	ENSG00000135018	12508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0.02)	.	UBQL1_HUMAN	UBQLN1	HGNC	.	.	UPI0000038DA1	SNV	UBQLN1,missense_variant,p.Gln392Lys,ENST00000376395,;UBQLN1,missense_variant,p.Gln12Lys,ENST00000526134,;UBQLN1,missense_variant,p.Gln392Lys,ENST00000257468,;UBQLN1,non_coding_transcript_exon_variant,,ENST00000533705,;UBQLN1,upstream_gene_variant,,ENST00000527373,;	1698	108	83	SUCCESS
MAGEC2	51438	.	GRCh37	X	141291161	141291161	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752666028	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	57	159	0	ENST00000247452.3:c.613T>A	p.Phe205Ile	p.F205I	ENST00000247452	NM_016249.3	205	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS14678.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAAGTGGT	NONE	byFrequency	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,Pfam_domain:PF01454	.	.	ENSP00000354660	.	3/3	.	.	.	.	.	.	.	.	rs752666028,COSM1556989	3/3	PASS	ENST00000247452	Transcript	.	.	ENSG00000046774	13574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.069)	.	deleterious(0.03)	0,1	MAGC2_HUMAN	MAGEC2	HGNC	.	.	UPI000012F059	SNV	MAGEC2,missense_variant,p.Phe205Ile,ENST00000247452,;	961	159	131	SUCCESS
GPR50	9248	.	GRCh37	X	150349506	150349506	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1027467005	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	83	0	ENST00000218316.3:c.1451C>A	p.Ala484Asp	p.A484D	ENST00000218316	NM_004224.3	484	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS44012.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCTGGCA	NONE	.	.	.	.	.	ENSP00000218316	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218316	Transcript	.	.	ENSG00000102195	4506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious_low_confidence(0)	.	MTR1L_HUMAN	GPR50	HGNC	.	.	UPI000013C755	SNV	GPR50,missense_variant,p.Ala484Asp,ENST00000218316,;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	1520	83	57	SUCCESS
PRDX4	10549	.	GRCh37	X	23693213	23693213	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	329	210	652	0	ENST00000379341.4:c.466C>G	p.His156Asp	p.H156D	ENST00000379341	NM_006406.1	156	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS14206.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCCATTTG	NONE	.	.	Superfamily_domains:SSF52833,Pfam_domain:PF00578,Gene3D:3.40.30.10,hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF101,PROSITE_profiles:PS51352	.	.	ENSP00000368646	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000379341	Transcript	.	.	ENSG00000123131	17169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRDX4_HUMAN	PRDX4	HGNC	.	.	UPI00001314E8	SNV	PRDX4,missense_variant,p.His142Asp,ENST00000379349,;PRDX4,missense_variant,p.His34Asp,ENST00000439422,;PRDX4,missense_variant,p.His156Asp,ENST00000379331,;PRDX4,missense_variant,p.His156Asp,ENST00000379341,;PRDX4,non_coding_transcript_exon_variant,,ENST00000495599,;	591	652	539	SUCCESS
PFKFB1	5207	.	GRCh37	X	54982655	54982655	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	111	0	ENST00000375006.3:c.569T>G	p.Leu190Arg	p.L190R	ENST00000375006	NM_001271804.1	190	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS14364.1	569	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGAACC	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.300,Pfam_domain:PF01591,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF52540,Prints_domain:PR00991	.	.	ENSP00000364145	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.475)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Leu125Arg,ENST00000545676,;PFKFB1,missense_variant,p.Leu190Arg,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	640	111	68	SUCCESS
DIAPH2	1730	.	GRCh37	X	95940062	95940062	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	69	199	0	ENST00000324765.8:c.5A>C	p.Glu2Ala	p.E2A	ENST00000324765		2	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS14467.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGAGCAGC	NONE	.	.	.	.	.	ENSP00000321348	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000324765	Transcript	.	.	ENSG00000147202	2877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	DIAP2_HUMAN	DIAPH2	HGNC	.	.	UPI00001293C8	SNV	DIAPH2,missense_variant,p.Glu2Ala,ENST00000373054,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000355827,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000324765,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000373049,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000373061,;	352	199	157	SUCCESS
HPSE2	60495	.	GRCh37	10	100992230	100992230	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	172	182	0	ENST00000370552.3:c.323T>A	p.Leu108His	p.L108H	ENST00000370552	NM_021828.4	108	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS7477.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAAAGTCCC	NONE	.	.	hmmpanther:PTHR14363:SF2,hmmpanther:PTHR14363,Superfamily_domains:SSF51445	.	.	ENSP00000359583	.	2/12	.	.	.	.	.	.	.	.	.	2/12	nonpreferredpair	ENST00000370552	Transcript	1	.	ENSG00000172987	18374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	HPSE2_HUMAN	HPSE2	HGNC	.	.	UPI00001AEEC0	SNV	HPSE2,missense_variant,p.Leu108His,ENST00000404542,;HPSE2,missense_variant,p.Leu108His,ENST00000370552,;HPSE2,missense_variant,p.Leu108His,ENST00000370546,;HPSE2,missense_variant,p.Leu108His,ENST00000370549,;	383	182	200	SUCCESS
ARMC3	219681	.	GRCh37	10	23244758	23244758	+	synonymous_variant	Silent	SNP	C	C	T	rs570281393	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	80	88	0	ENST00000298032.5:c.189C>T	p.Leu63=	p.L63=	ENST00000298032	NM_173081.3	63	ctC/ctT	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS7142.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTCCTTGA	NONE	by1000G	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	T:0	.	ENSP00000298032	T:0	4/19	.	.	.	.	.	.	.	.	rs570281393	4/19	nonpreferredpair	ENST00000298032	Transcript	.	T:0.0002	ENSG00000165309	30964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	ARMC3_HUMAN	ARMC3	HGNC	C9JC46_HUMAN,B4DXS3_HUMAN	.	UPI0000161785	SNV	ARMC3,synonymous_variant,p.%3D,ENST00000409983,;ARMC3,synonymous_variant,p.%3D,ENST00000409049,;ARMC3,synonymous_variant,p.%3D,ENST00000298032,;ARMC3,5_prime_UTR_variant,,ENST00000376528,;ARMC3,5_prime_UTR_variant,,ENST00000447081,;ARMC3,non_coding_transcript_exon_variant,,ENST00000464017,;ARMC3,non_coding_transcript_exon_variant,,ENST00000496741,;ARMC3,non_coding_transcript_exon_variant,,ENST00000468003,;ARMC3,non_coding_transcript_exon_variant,,ENST00000483596,;ARMC3,intron_variant,,ENST00000484642,;	273	88	157	SUCCESS
PFKFB3	5209	.	GRCh37	10	6257273	6257273	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	36	0	ENST00000379775.4:c.292G>T	p.Val98Phe	p.V98F	ENST00000379775	NM_004566.3	98	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS7078.1	292	RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGTCCGG	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.300,Pfam_domain:PF01591,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	.	.	ENSP00000369100	.	3/15	.	.	.	.	.	.	.	.	.	3/15	nonpreferredpair	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.76)	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,missense_variant,p.Val112Phe,ENST00000540253,;PFKFB3,missense_variant,p.Val98Phe,ENST00000379785,;PFKFB3,missense_variant,p.Val98Phe,ENST00000317350,;PFKFB3,missense_variant,p.Val78Phe,ENST00000536985,;PFKFB3,missense_variant,p.Val98Phe,ENST00000379782,;PFKFB3,missense_variant,p.Val98Phe,ENST00000360521,;PFKFB3,missense_variant,p.Val78Phe,ENST00000379789,;PFKFB3,missense_variant,p.Val98Phe,ENST00000379775,;PFKFB3,missense_variant,p.Val98Phe,ENST00000467491,;PFKFB3,missense_variant,p.Val98Phe,ENST00000477914,;PFKFB3,missense_variant,p.Val98Phe,ENST00000461744,;PFKFB3,missense_variant,p.Val98Phe,ENST00000490474,;	622	36	36	SUCCESS
SFTPA2	729238	.	GRCh37	10	81317058	81317058	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	238	277	0	ENST00000372325.2:c.654T>G	p.Gly218=	p.G218=	ENST00000372325	NM_001098668.2	218	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS41540.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGACCTGC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24024:SF13,hmmpanther:PTHR24024,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,synonymous_variant,p.%3D,ENST00000372325,;SFTPA2,synonymous_variant,p.%3D,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	739	278	293	SUCCESS
PGR	5241	.	GRCh37	11	100999049	100999049	+	synonymous_variant	Silent	SNP	T	T	C	rs1591439785	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	24	0	ENST00000325455.5:c.753A>G	p.Gly251=	p.G251=	ENST00000325455	NM_001202474.3	251	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8310.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161	.	.	ENSP00000325120	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000325455	Transcript	.	.	ENSG00000082175	8910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,synonymous_variant,p.%3D,ENST00000263463,;PGR,synonymous_variant,p.%3D,ENST00000325455,;PGR,intron_variant,,ENST00000534013,;PGR,synonymous_variant,p.%3D,ENST00000534780,;PGR,synonymous_variant,p.%3D,ENST00000528960,;PGR,synonymous_variant,p.%3D,ENST00000526300,;	2207	24	28	SUCCESS
IL10RA	3587	.	GRCh37	11	117860245	117860245	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	74	0	ENST00000227752.3:c.277A>T	p.Ser93Cys	p.S93C	ENST00000227752	NM_001558.3	93	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8388.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACAGCAAT	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF01108,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	.	.	ENSP00000227752	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000227752	Transcript	.	.	ENSG00000110324	5964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.126)	.	deleterious(0.05)	.	I10R1_HUMAN	IL10RA	HGNC	F5H5Y4_HUMAN	.	UPI000013C8BF	SNV	IL10RA,missense_variant,p.Ser93Cys,ENST00000227752,;IL10RA,missense_variant,p.Ser73Cys,ENST00000541785,;IL10RA,intron_variant,,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,non_coding_transcript_exon_variant,,ENST00000534335,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000531365,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,intron_variant,,ENST00000526544,;IL10RA,upstream_gene_variant,,ENST00000530178,;IL10RA,upstream_gene_variant,,ENST00000532009,;	397	74	119	SUCCESS
RP11-196E1.3	0	.	GRCh37	11	119508959	119508959	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	21	0	ENST00000532153.1:n.514+872T>A		p.*172*	ENST00000532153				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGGAAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000532153	Transcript	.	.	ENSG00000254561	.	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-196E1.3	Clone_based_vega_gene	.	.	.	SNV	PVRL1,splice_acceptor_variant,,ENST00000341398,;RP11-196E1.3,intron_variant,,ENST00000532153,;RP11-196E1.3,intron_variant,,ENST00000601999,;PVRL1,upstream_gene_variant,,ENST00000531468,;	.	21	46	SUCCESS
OR6M1	390261	.	GRCh37	11	123676307	123676307	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	32	67	0	ENST00000309154.2:c.751A>T	p.Ser251Cys	p.S251C	ENST00000309154	NM_001005325.1	251	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31696.1	751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCTCCCGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000311038	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000309154	Transcript	.	.	ENSG00000196099	14711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	tolerated(0.06)	.	OR6M1_HUMAN	OR6M1	HGNC	.	.	UPI000003FE18	SNV	OR6M1,missense_variant,p.Ser251Cys,ENST00000309154,;	789	67	97	SUCCESS
ACAD8	27034	.	GRCh37	11	134131002	134131002	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	58	0	ENST00000281182.4:c.770A>G	p.Asn257Ser	p.N257S	ENST00000281182	NM_014384.2	257	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS8498.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAACAGAA	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645	.	.	ENSP00000281182	.	7/11	.	.	.	.	.	.	.	.	.	7/11	nonpreferredpair	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.244)	.	deleterious(0.01)	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,missense_variant,p.Asn159Ser,ENST00000543332,;ACAD8,missense_variant,p.Asn257Ser,ENST00000281182,;ACAD8,missense_variant,p.Asn130Ser,ENST00000374752,;ACAD8,missense_variant,p.Asn180Ser,ENST00000537423,;ACAD8,upstream_gene_variant,,ENST00000524502,;ACAD8,non_coding_transcript_exon_variant,,ENST00000524547,;ACAD8,3_prime_UTR_variant,,ENST00000524426,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527713,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527665,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,downstream_gene_variant,,ENST00000528325,;ACAD8,downstream_gene_variant,,ENST00000527082,;ACAD8,downstream_gene_variant,,ENST00000534433,;ACAD8,downstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000530533,;ACAD8,downstream_gene_variant,,ENST00000534240,;ACAD8,downstream_gene_variant,,ENST00000525961,;	876	58	109	SUCCESS
CDKN1C	1028	.	GRCh37	11	2906437	2906437	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762106424	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	37	1	ENST00000414822.3:c.283G>A	p.Val95Met	p.V95M	ENST00000414822	NM_000076.2	95	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS7738.1	283	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCACCGTCT	NONE	.	.	hmmpanther:PTHR10265:SF7,hmmpanther:PTHR10265,Gene3D:1jsuC00	.	.	ENSP00000413720	.	1/3	.	.	.	.	.	.	.	.	rs762106424	1/3	nonpreferredpair	ENST00000414822	Transcript	.	.	ENSG00000129757	1786	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	CDN1C_HUMAN	CDKN1C	HGNC	.	.	UPI0000127442	SNV	CDKN1C,missense_variant,p.Val84Met,ENST00000380725,;CDKN1C,missense_variant,p.Val84Met,ENST00000440480,;CDKN1C,missense_variant,p.Val95Met,ENST00000414822,;CDKN1C,missense_variant,p.Val95Met,ENST00000430149,;CDKN1C,missense_variant,p.Val84Met,ENST00000313407,;SLC22A18AS,downstream_gene_variant,,ENST00000533594,;SLC22A18AS,downstream_gene_variant,,ENST00000526203,;SLC22A18AS,downstream_gene_variant,,ENST00000455942,;CDKN1C,upstream_gene_variant,,ENST00000471157,;	675	38	50	SUCCESS
NUP98	4928	.	GRCh37	11	3721964	3721964	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	76	0	ENST00000359171.4:c.3618A>T	p.Leu1206Phe	p.L1206F	ENST00000359171		1206	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS7746.1	3618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTAATTT	NONE	.	.	hmmpanther:PTHR23198,hmmpanther:PTHR23198:SF0	.	.	ENSP00000316032	.	24/33	.	.	.	.	.	.	.	.	.	24/33	nonpreferredpair	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	NUP98,missense_variant,p.Leu159Phe,ENST00000429801,;NUP98,missense_variant,p.Leu1206Phe,ENST00000324932,;NUP98,missense_variant,p.Leu1206Phe,ENST00000359171,;NUP98,missense_variant,p.Leu1206Phe,ENST00000355260,;NUP98,upstream_gene_variant,,ENST00000488828,;NUP98,non_coding_transcript_exon_variant,,ENST00000483285,;NUP98,intron_variant,,ENST00000529063,;	4039	77	126	SUCCESS
LRRC4C	57689	.	GRCh37	11	40137430	40137430	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	42	97	0	ENST00000278198.2:c.413C>A	p.Thr138Asn	p.T138N	ENST00000278198		138	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS31464.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGTAGTA	BUFFER|p.P140P|c.420G>A|3	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13306,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000278198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000278198	Transcript	.	.	ENSG00000148948	29317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	tolerated(0.21)	.	LRC4C_HUMAN	LRRC4C	HGNC	E9PLP4_HUMAN	.	UPI000000D9A7	SNV	LRRC4C,missense_variant,p.Thr138Asn,ENST00000528697,;LRRC4C,missense_variant,p.Thr138Asn,ENST00000278198,;LRRC4C,missense_variant,p.Thr138Asn,ENST00000530763,;LRRC4C,missense_variant,p.Thr138Asn,ENST00000527150,;LRRC4C,downstream_gene_variant,,ENST00000533474,;	2377	97	165	SUCCESS
OR51D1	390038	.	GRCh37	11	4661505	4661505	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	47	0	ENST00000357605.2:c.485T>A	p.Leu162Gln	p.L162Q	ENST00000357605	NM_001004751.2	162	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31357.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGACCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350222	.	1/1	.	.	.	.	.	.	.	.	COSM688035	1/1	nonpreferredpair	ENST00000357605	Transcript	.	.	ENSG00000197428	15193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.972)	.	deleterious(0)	1	O51D1_HUMAN	OR51D1	HGNC	.	.	UPI000004B21E	SNV	OR51D1,missense_variant,p.Leu162Gln,ENST00000357605,;OR51E1,upstream_gene_variant,,ENST00000396952,;	561	47	66	SUCCESS
OR51E1	143503	.	GRCh37	11	4673751	4673751	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	39	0	ENST00000396952.5:c.-6T>C		p.*2*	ENST00000396952	NM_152430.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31358.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTTCTTC	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,5_prime_UTR_variant,,ENST00000530215,;OR51E1,5_prime_UTR_variant,,ENST00000396952,;	645	39	53	SUCCESS
OR51F1	256892	.	GRCh37	11	4790465	4790465	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs777695708	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	52	101	0	ENST00000380383.1:c.704T>G	p.Leu235Arg	p.L235R	ENST00000380383		235	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS31359.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGAGGACA	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000345163	.	1/1	.	.	.	.	.	.	.	.	rs777695708	1/1	nonpreferredpair	ENST00000343430	Transcript	.	.	ENSG00000188069	15196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	.	OR51F1	HGNC	A6NLW9_HUMAN	.	UPI000016148C	SNV	OR51F1,missense_variant,p.Leu228Arg,ENST00000343430,;OR51F1,missense_variant,p.Leu235Arg,ENST00000380383,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	683	101	178	SUCCESS
OR5B12	390191	.	GRCh37	11	58207528	58207528	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768338907	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	38	115	0	ENST00000302572.2:c.97T>A	p.Tyr33Asn	p.Y33N	ENST00000302572	NM_001004733.2	33	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS31551.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAGATGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000306657	.	1/1	.	.	.	.	.	.	.	.	rs768338907	1/1	nonpreferredpair	ENST00000302572	Transcript	.	.	ENSG00000172362	15432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	OR5BC_HUMAN	OR5B12	HGNC	.	.	UPI00000015B2	SNV	OR5B12,missense_variant,p.Tyr33Asn,ENST00000302572,;	119	115	147	SUCCESS
CNGA4	1262	.	GRCh37	11	6261357	6261357	+	synonymous_variant	Silent	SNP	C	C	T	rs878876329	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	37	0	ENST00000379936.2:c.333C>T	p.Arg111=	p.R111=	ENST00000379936	NM_001037329.3	111	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS31408.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGCACCTG	NONE	.	.	hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000369268	.	4/6	.	.	.	.	.	.	.	.	.	4/6	nonpreferredpair	ENST00000379936	Transcript	.	.	ENSG00000132259	2152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,synonymous_variant,p.%3D,ENST00000379936,;CNGA4,intron_variant,,ENST00000533426,;	448	37	70	SUCCESS
CCKBR	887	.	GRCh37	11	6292577	6292577	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201876764	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	72	0	ENST00000334619.2:c.1148C>T	p.Ala383Val	p.A383V	ENST00000334619	NM_176875.3	383	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS7761.1	1148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGCCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000335544	.	5/5	.	.	.	.	.	.	.	.	rs201876764,COSM1703505,COSM1703506	5/5	nonpreferredpair	ENST00000334619	Transcript	.	.	ENSG00000110148	1571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.983)	.	deleterious(0)	0,1,1	GASR_HUMAN	CCKBR	HGNC	.	.	UPI0000000C18	SNV	CCKBR,missense_variant,p.Ala452Val,ENST00000525462,;CCKBR,missense_variant,p.Ala299Val,ENST00000532715,;CCKBR,missense_variant,p.Ala383Val,ENST00000334619,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,downstream_gene_variant,,ENST00000532396,;	1341	72	86	SUCCESS
DEAF1	10522	.	GRCh37	11	679715	679715	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	24	0	ENST00000382409.3:c.1099C>A	p.Gln367Lys	p.Q367K	ENST00000382409	NM_021008.2	367	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS31327.1	1099	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGGCCG	NONE	.	.	hmmpanther:PTHR10237	.	.	ENSP00000371846	.	8/12	.	.	.	.	.	.	.	.	.	8/12	nonpreferredpair	ENST00000382409	Transcript	.	.	ENSG00000177030	14677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	deleterious(0.03)	.	DEAF1_HUMAN	DEAF1	HGNC	.	.	UPI00001290E6	SNV	DEAF1,missense_variant,p.Gln367Lys,ENST00000382409,;DEAF1,missense_variant,p.Gln278Lys,ENST00000338675,;RP11-754B17.1,downstream_gene_variant,,ENST00000527799,;DEAF1,non_coding_transcript_exon_variant,,ENST00000530813,;DEAF1,non_coding_transcript_exon_variant,,ENST00000525904,;DEAF1,missense_variant,p.Gln155Lys,ENST00000527170,;DEAF1,upstream_gene_variant,,ENST00000526790,;	1584	24	27	SUCCESS
MYO7A	4647	.	GRCh37	11	76858873	76858873	+	synonymous_variant	Silent	SNP	G	G	A	rs782185833	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	45	59	0	ENST00000409709.3:c.162G>A	p.Thr54=	p.T54=	ENST00000409709	NM_000260.3	54	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS53683.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACGCACAT	NONE	byFrequency	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,Superfamily_domains:SSF52540	.	.	ENSP00000386331	.	4/49	.	.	.	.	.	.	.	.	rs782185833	4/49	nonpreferredpair	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,synonymous_variant,p.%3D,ENST00000409893,;MYO7A,synonymous_variant,p.%3D,ENST00000409619,;MYO7A,synonymous_variant,p.%3D,ENST00000409709,;MYO7A,synonymous_variant,p.%3D,ENST00000458637,;	434	59	76	SUCCESS
NOX4	50507	.	GRCh37	11	89182674	89182674	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	101	155	1	ENST00000263317.4:c.283A>T	p.Arg95Trp	p.R95W	ENST00000263317		95	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8285.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTGGTTC	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF01794	.	.	ENSP00000263317	.	4/18	.	.	.	.	.	.	.	.	.	4/18	nonpreferredpair	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,missense_variant,p.Arg71Trp,ENST00000535633,;NOX4,missense_variant,p.Arg71Trp,ENST00000527956,;NOX4,missense_variant,p.Arg71Trp,ENST00000542487,;NOX4,missense_variant,p.Arg71Trp,ENST00000343727,;NOX4,missense_variant,p.Arg116Trp,ENST00000413594,;NOX4,missense_variant,p.Arg71Trp,ENST00000532825,;NOX4,missense_variant,p.Arg95Trp,ENST00000534731,;NOX4,missense_variant,p.Arg95Trp,ENST00000263317,;NOX4,missense_variant,p.Arg95Trp,ENST00000525196,;NOX4,missense_variant,p.Arg70Trp,ENST00000528341,;NOX4,missense_variant,p.Arg71Trp,ENST00000424319,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000527626,;NOX4,missense_variant,p.Arg95Trp,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000525278,;	522	157	299	SUCCESS
SESN3	143686	.	GRCh37	11	94906456	94906456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	33	69	0	ENST00000536441.1:c.1442T>C	p.Leu481Pro	p.L481P	ENST00000536441	NM_144665.3	481	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8303.1	1442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAAGAAGT	NONE	.	.	hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474,Pfam_domain:PF04636	.	.	ENSP00000441927	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000536441	Transcript	.	.	ENSG00000149212	23060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SESN3_HUMAN	SESN3	HGNC	.	.	UPI0000135891	SNV	SESN3,missense_variant,p.Leu342Pro,ENST00000278499,;SESN3,missense_variant,p.Leu481Pro,ENST00000536441,;RP11-712B9.2,intron_variant,,ENST00000534864,;RP11-712B9.2,intron_variant,,ENST00000534891,;	1779	69	139	SUCCESS
RITA1	84934	.	GRCh37	12	113629261	113629261	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780174678	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	23	0	ENST00000548278.1:c.449G>T	p.Gly150Val	p.G150V	ENST00000548278	NM_032848.1	150	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9166.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGTAGCC	NONE	.	.	.	.	.	ENSP00000449841	.	4/4	.	.	.	.	.	.	.	.	rs780174678	4/4	nonpreferredpair	ENST00000548278	Transcript	.	.	ENSG00000139405	25925	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	RITA_HUMAN	RITA1	HGNC	.	.	UPI0000037271	SNV	RITA1,missense_variant,p.Gly174Val,ENST00000552495,;RITA1,missense_variant,p.Gly150Val,ENST00000548278,;RITA1,missense_variant,p.Gly150Val,ENST00000549621,;IQCD,downstream_gene_variant,,ENST00000416617,;IQCD,downstream_gene_variant,,ENST00000299732,;RP11-545P7.4,intron_variant,,ENST00000552525,;	1141	23	43	SUCCESS
NOS1	4842	.	GRCh37	12	117655927	117655927	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs763373196	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	115	1	ENST00000317775.6:c.4213C>T	p.Arg1405Ter	p.R1405*	ENST00000317775	NM_000620.4	1405	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS55890.1	4315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCGCAGGG	CODON|p.R1405Q|c.4214G>A|3	.	.	PIRSF_domain:PIRSF000333	.	.	ENSP00000337459	.	28/29	.	.	.	.	.	.	.	.	rs763373196	28/29	nonpreferredpair	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,stop_gained,p.Arg1405Ter,ENST00000317775,;NOS1,stop_gained,p.Arg1439Ter,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	4320	116	136	SUCCESS
ERC1	23085	.	GRCh37	12	1192437	1192437	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	56	0	ENST00000360905.4:c.777A>C	p.Val259=	p.V259=	ENST00000360905		259	gtA/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS8508.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTAGCAGA	NONE	.	.	hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Pfam_domain:PF10174	.	.	ENSP00000380386	.	3/19	.	.	.	.	.	.	.	.	.	3/19	nonpreferredpair	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,synonymous_variant,p.%3D,ENST00000546231,;ERC1,synonymous_variant,p.%3D,ENST00000592048,;ERC1,synonymous_variant,p.%3D,ENST00000360905,;ERC1,synonymous_variant,p.%3D,ENST00000589028,;ERC1,synonymous_variant,p.%3D,ENST00000397203,;ERC1,synonymous_variant,p.%3D,ENST00000543086,;ERC1,synonymous_variant,p.%3D,ENST00000355446,;ERC1,upstream_gene_variant,,ENST00000536573,;ERC1,synonymous_variant,p.%3D,ENST00000542302,;ERC1,synonymous_variant,p.%3D,ENST00000440394,;ERC1,synonymous_variant,p.%3D,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,intron_variant,,ENST00000545948,;ERC1,upstream_gene_variant,,ENST00000539007,;	1183	56	66	SUCCESS
FKBP4	2288	.	GRCh37	12	2904411	2904411	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	62	0	ENST00000001008.4:c.105+1G>A		p.X35_splice	ENST00000001008	NM_002014.3	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8512.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGTGAGG	NONE	.	.	.	.	.	ENSP00000001008	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000001008	Transcript	.	.	ENSG00000004478	3720	.	.	HIGH	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKBP4_HUMAN	FKBP4	HGNC	F5H1U3_HUMAN	.	UPI000013C4D0	SNV	FKBP4,splice_donor_variant,,ENST00000001008,;FKBP4,upstream_gene_variant,,ENST00000538622,;RP4-816N1.6,downstream_gene_variant,,ENST00000547834,;RP4-816N1.7,downstream_gene_variant,,ENST00000547042,;CBX3P4,upstream_gene_variant,,ENST00000540428,;FKBP4,upstream_gene_variant,,ENST00000540260,;FKBP4,splice_donor_variant,,ENST00000543769,;FKBP4,upstream_gene_variant,,ENST00000543037,;	.	62	125	SUCCESS
OR8S1	341568	.	GRCh37	12	48919696	48919696	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	71	0	ENST00000310194.1:c.282A>G	p.Val94=	p.V94=	ENST00000310194	NM_001005203.2	94	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS31789.1	282	RADIA|MUTECT|MUSE	.	TCAGTAGAGGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF239,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000310632	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000310194	Transcript	.	.	ENSG00000197376	19628	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR8S1_HUMAN	OR8S1	HGNC	.	.	UPI000013EFC1	SNV	OR8S1,synonymous_variant,p.%3D,ENST00000310194,;OR8S1,intron_variant,,ENST00000551654,;	282	71	66	SUCCESS
KRT80	144501	.	GRCh37	12	52579367	52579367	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	12	0	ENST00000394815.2:c.305A>T	p.Gln102Leu	p.Q102L	ENST00000394815	NM_182507.2	102	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8821.2	305	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GGGCTTGCACC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000378292	.	2/9	.	.	.	.	.	.	.	.	.	2/9	nonpreferredpair	ENST00000394815	Transcript	.	.	ENSG00000167767	27056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	K2C80_HUMAN	KRT80	HGNC	.	.	UPI0000160118	SNV	KRT80,missense_variant,p.Gln102Leu,ENST00000313234,;KRT80,missense_variant,p.Gln102Leu,ENST00000394815,;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;	403	12	13	SUCCESS
KRT7	3855	.	GRCh37	12	52635357	52635357	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	63	1	ENST00000331817.5:c.795G>T	p.Lys265Asn	p.K265N	ENST00000331817	NM_005556.3	265	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS8822.1	795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAAGGCGCA	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF133,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000329243	.	5/9	.	.	.	.	.	.	.	.	.	5/9	nonpreferredpair	ENST00000331817	Transcript	.	.	ENSG00000135480	6445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	deleterious(0)	.	K2C7_HUMAN	KRT7	HGNC	.	.	UPI000013CF9E	SNV	KRT7,missense_variant,p.Lys265Asn,ENST00000331817,;RP3-416H24.1,downstream_gene_variant,,ENST00000546686,;KRT7,non_coding_transcript_exon_variant,,ENST00000552183,;KRT7,non_coding_transcript_exon_variant,,ENST00000546856,;KRT7,downstream_gene_variant,,ENST00000547613,;KRT7,upstream_gene_variant,,ENST00000552322,;KRT7,upstream_gene_variant,,ENST00000548657,;KRT7,upstream_gene_variant,,ENST00000549127,;KRT7,non_coding_transcript_exon_variant,,ENST00000548088,;KRT7,non_coding_transcript_exon_variant,,ENST00000551130,;	978	64	54	SUCCESS
KIF5A	3798	.	GRCh37	12	57963063	57963063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	65	0	ENST00000455537.2:c.844A>T	p.Ser282Cys	p.S282C	ENST00000455537	NM_004984.2	282	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8945.1	844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACAGCAAA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000408979	.	10/29	.	.	.	.	.	.	.	.	.	10/29	nonpreferredpair	ENST00000455537	Transcript	.	.	ENSG00000155980	6323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIF5A_HUMAN	KIF5A	HGNC	.	.	UPI000013DE4C	SNV	KIF5A,missense_variant,p.Ser282Cys,ENST00000455537,;KIF5A,missense_variant,p.Ser193Cys,ENST00000286452,;	1118	65	77	SUCCESS
ATP2B1	490	.	GRCh37	12	89998055	89998055	+	synonymous_variant	Silent	SNP	G	G	A	rs112647159	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	53	86	0	ENST00000428670.3:c.2511C>T	p.Ser837=	p.S837=	ENST00000428670		837	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9035.1	2511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATGCTTGT	NONE	.	.	hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,TIGRFAM_domain:TIGR01494,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,Superfamily_domains:SSF56784	.	.	ENSP00000392043	.	16/21	.	.	.	.	.	.	.	.	rs112647159	16/21	nonpreferredpair	ENST00000428670	Transcript	.	.	ENSG00000070961	814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2B1_HUMAN	ATP2B1	HGNC	Q3L582_HUMAN	.	UPI000002A436	SNV	ATP2B1,synonymous_variant,p.%3D,ENST00000393164,;ATP2B1,synonymous_variant,p.%3D,ENST00000261173,;ATP2B1,synonymous_variant,p.%3D,ENST00000428670,;ATP2B1,synonymous_variant,p.%3D,ENST00000359142,;ATP2B1,synonymous_variant,p.%3D,ENST00000348959,;ATP2B1,upstream_gene_variant,,ENST00000550716,;ATP2B1,non_coding_transcript_exon_variant,,ENST00000551009,;ATP2B1,non_coding_transcript_exon_variant,,ENST00000549727,;ATP2B1,upstream_gene_variant,,ENST00000552275,;	2968	86	129	SUCCESS
CRADD	8738	.	GRCh37	12	94243784	94243784	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	51	0	ENST00000332896.3:c.337A>T	p.Ser113Cys	p.S113C	ENST00000332896	NM_003805.3	113	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9048.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACAGCTCC	NONE	.	.	Superfamily_domains:SSF47986,SMART_domains:SM00005,hmmpanther:PTHR15034:SF4,hmmpanther:PTHR15034	.	.	ENSP00000439068	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000542893	Transcript	.	.	ENSG00000169372	2340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0.04)	.	CRADD_HUMAN	CRADD	HGNC	Q53XL1_HUMAN	.	UPI00001283AA	SNV	CRADD,missense_variant,p.Ser113Cys,ENST00000332896,;CRADD,missense_variant,p.Ser113Cys,ENST00000542893,;CRADD,intron_variant,,ENST00000541813,;CRADD,intron_variant,,ENST00000548483,;CRADD,non_coding_transcript_exon_variant,,ENST00000548330,;CRADD,non_coding_transcript_exon_variant,,ENST00000609189,;CRADD,non_coding_transcript_exon_variant,,ENST00000550030,;CRADD,downstream_gene_variant,,ENST00000549615,;CRADD,intron_variant,,ENST00000551065,;	655	51	70	SUCCESS
TMCC3	57458	.	GRCh37	12	94972248	94972248	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	29	63	1	ENST00000261226.4:c.1053A>T	p.Thr351=	p.T351=	ENST00000261226	NM_020698.2	351	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31877.1	1053	RADIA|MUTECT|MUSE	.	TTGGCTGTCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8	.	.	ENSP00000261226	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000261226	Transcript	.	.	ENSG00000057704	29199	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMCC3_HUMAN	TMCC3	HGNC	G3V207_HUMAN,F8VQF2_HUMAN	.	UPI00001FB2DD	SNV	TMCC3,synonymous_variant,p.%3D,ENST00000261226,;TMCC3,synonymous_variant,p.%3D,ENST00000551457,;TMCC3,downstream_gene_variant,,ENST00000548918,;	1185	64	49	SUCCESS
TPP2	7174	.	GRCh37	13	103288606	103288606	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	55	107	0	ENST00000376065.4:c.1542T>A	p.Asn514Lys	p.N514K	ENST00000376065	NM_003291.2	514	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS9502.1	1542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAATACATC	NONE	.	.	Superfamily_domains:SSF52743,hmmpanther:PTHR10795	.	.	ENSP00000365233	.	13/29	.	.	.	.	.	.	.	.	.	13/29	nonpreferredpair	ENST00000376065	Transcript	.	.	ENSG00000134900	12016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated(0.27)	.	TPP2_HUMAN	TPP2	HGNC	.	.	UPI0000001C91	SNV	TPP2,missense_variant,p.Asn514Lys,ENST00000376052,;TPP2,missense_variant,p.Asn514Lys,ENST00000376065,;TPP2,downstream_gene_variant,,ENST00000493770,;	1578	107	154	SUCCESS
RNF6	6049	.	GRCh37	13	26789149	26789149	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	81	0	ENST00000346166.3:c.870A>T	p.Thr290=	p.T290=	ENST00000346166	NM_183043.2	290	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9316.1	870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACTGTAAC	NONE	.	.	hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF4	.	.	ENSP00000371000	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000381588	Transcript	.	.	ENSG00000127870	10069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF6_HUMAN	RNF6	HGNC	.	.	UPI0000000A0A	SNV	RNF6,synonymous_variant,p.%3D,ENST00000346166,;RNF6,synonymous_variant,p.%3D,ENST00000381570,;RNF6,synonymous_variant,p.%3D,ENST00000381588,;RNF6,intron_variant,,ENST00000399762,;RNF6,intron_variant,,ENST00000468480,;RNF6,downstream_gene_variant,,ENST00000476347,;RNF6,downstream_gene_variant,,ENST00000498039,;	1623	82	100	SUCCESS
FLT1	2321	.	GRCh37	13	29008090	29008090	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	67	96	0	ENST00000282397.4:c.679A>T	p.Asn227Tyr	p.N227Y	ENST00000282397	NM_002019.4	227	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS9330.1	679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATTGGCTG	NONE	.	.	Prints_domain:PR01833	.	.	ENSP00000282397	.	6/30	.	.	.	.	.	.	.	.	.	6/30	nonpreferredpair	ENST00000282397	Transcript	.	.	ENSG00000102755	3763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	deleterious(0.03)	.	VGFR1_HUMAN	FLT1	HGNC	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN	.	UPI000013DCDD	SNV	FLT1,missense_variant,p.Asn227Tyr,ENST00000539099,;FLT1,missense_variant,p.Asn227Tyr,ENST00000282397,;FLT1,missense_variant,p.Asn227Tyr,ENST00000541932,;	931	96	137	SUCCESS
FREM2	341640	.	GRCh37	13	39262723	39262723	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	78	0	ENST00000280481.7:c.1242A>C	p.Val414=	p.V414=	ENST00000280481	NM_207361.4	414	gtA/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS31960.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTAGTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	nonpreferredpair	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	1458	78	83	SUCCESS
KIAA0226L	0	.	GRCh37	13	46946076	46946076	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs140036142	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	56	0	ENST00000389908.3:c.535G>A	p.Gly179Ser	p.G179S	ENST00000389908		179	Ggt/Agt	0	.	G:0	.	G:0	.	T	G/S	protein_coding	YES	CCDS31970.2	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACCTTCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF9	G:0.0169	.	ENSP00000396935	G:0	3/15	.	.	.	.	.	.	.	.	rs140036142	3/15	nonpreferredpair	ENST00000429979	Transcript	.	G:0.0034	ENSG00000102445	20420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	G:0	tolerated(0.13)	.	K226L_HUMAN	KIAA0226L	HGNC	Q5W050_HUMAN,A8XR14_HUMAN,A8KAG9_HUMAN	.	UPI00001FCD59	SNV	KIAA0226L,missense_variant,p.Gly179Ser,ENST00000389908,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000378781,;KIAA0226L,missense_variant,p.Gly112Ser,ENST00000378784,;KIAA0226L,missense_variant,p.Gly44Ser,ENST00000534925,;KIAA0226L,missense_variant,p.Gly44Ser,ENST00000417405,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000429979,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000378787,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000378797,;KIAA0226L,incomplete_terminal_codon_variant,p.%3D,ENST00000439642,;KIAA0226L,intron_variant,,ENST00000322896,;KIAA0226L,intron_variant,,ENST00000409879,;RNU2-6P,downstream_gene_variant,,ENST00000411404,;KIAA0226L,downstream_gene_variant,,ENST00000480935,;KIAA0226L,missense_variant,p.Gly179Ser,ENST00000441284,;PPP1R2P4,intron_variant,,ENST00000535073,;	1140	56	50	SUCCESS
PPP1R13B	23368	.	GRCh37	14	104206739	104206739	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	23	0	ENST00000202556.9:c.2014C>T	p.Pro672Ser	p.P672S	ENST00000202556	NM_015316.2	672	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41997.1	2014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGGCTGA	NONE	.	.	hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5	.	.	ENSP00000202556	.	12/17	.	.	.	.	.	.	.	.	.	12/17	nonpreferredpair	ENST00000202556	Transcript	.	.	ENSG00000088808	14950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ASPP1_HUMAN	PPP1R13B	HGNC	G3V5J1_HUMAN	.	UPI000049DDC7	SNV	PPP1R13B,missense_variant,p.Pro91Ser,ENST00000423488,;PPP1R13B,missense_variant,p.Pro672Ser,ENST00000202556,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555391,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,downstream_gene_variant,,ENST00000555991,;PPP1R13B,missense_variant,p.Pro328Ser,ENST00000556597,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,downstream_gene_variant,,ENST00000557744,;PPP1R13B,upstream_gene_variant,,ENST00000556334,;PPP1R13B,upstream_gene_variant,,ENST00000557587,;PPP1R13B,upstream_gene_variant,,ENST00000554432,;PPP1R13B,upstream_gene_variant,,ENST00000555825,;	2297	23	29	SUCCESS
CEP170B	283638	.	GRCh37	14	105349414	105349414	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	22	0	ENST00000414716.3:c.620G>C	p.Gly207Ala	p.G207A	ENST00000414716	NM_001112726.2	207	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS45175.1	620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGCTTCC	NONE	.	.	hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18	.	.	ENSP00000404151	.	8/19	.	.	.	.	.	.	.	.	.	8/19	nonpreferredpair	ENST00000414716	Transcript	.	.	ENSG00000099814	20362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.07)	.	C170B_HUMAN	CEP170B	HGNC	E9PFC1_HUMAN	.	UPI00001FDCF7	SNV	CEP170B,missense_variant,p.Gly207Ala,ENST00000414716,;CEP170B,missense_variant,p.Gly137Ala,ENST00000556508,;CEP170B,missense_variant,p.Gly137Ala,ENST00000418279,;CEP170B,missense_variant,p.Gly208Ala,ENST00000453495,;	848	22	23	SUCCESS
SLC7A8	23428	.	GRCh37	14	23635745	23635745	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	26	0	ENST00000316902.7:c.156C>G	p.Asn52Lys	p.N52K	ENST00000316902	NM_012244.3	52	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS9590.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGTTCCC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF113,hmmpanther:PTHR11785,TIGRFAM_domain:TIGR00911,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000320378	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000316902	Transcript	.	.	ENSG00000092068	11066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LAT2_HUMAN	SLC7A8	HGNC	E9PQT4_HUMAN,E9PIC3_HUMAN,B3KSX4_HUMAN	.	UPI000012E235	SNV	SLC7A8,missense_variant,p.Asn52Lys,ENST00000316902,;SLC7A8,missense_variant,p.Asn52Lys,ENST00000525062,;SLC7A8,missense_variant,p.Asn52Lys,ENST00000469263,;SLC7A8,missense_variant,p.Asn52Lys,ENST00000524758,;	882	26	24	SUCCESS
MYH6	4624	.	GRCh37	14	23859384	23859384	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	78	0	ENST00000356287.3:c.3614T>A	p.Leu1205Gln	p.L1205Q	ENST00000356287		1205	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS9600.1	3614	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCAGCTCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000386041	.	26/39	.	.	.	.	.	.	.	.	.	26/39	nonpreferredpair	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Leu1205Gln,ENST00000405093,;MYH6,missense_variant,p.Leu1205Gln,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	3685	78	68	SUCCESS
G2E3	55632	.	GRCh37	14	31084590	31084590	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	58	138	0	ENST00000206595.6:c.1709A>G	p.Glu570Gly	p.E570G	ENST00000206595	NM_017769.3	570	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9638.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGAGAAAA	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF13,PROSITE_profiles:PS50237	.	.	ENSP00000206595	.	14/15	.	.	.	.	.	.	.	.	.	14/15	nonpreferredpair	ENST00000206595	Transcript	.	.	ENSG00000092140	20338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	G2E3_HUMAN	G2E3	HGNC	G3V5B6_HUMAN,G3V3B6_HUMAN,F8W0F5_HUMAN,F8VY49_HUMAN,F5GX24_HUMAN	.	UPI000013F3A8	SNV	G2E3,missense_variant,p.Glu600Gly,ENST00000553504,;G2E3,missense_variant,p.Glu570Gly,ENST00000206595,;G2E3,missense_variant,p.Glu524Gly,ENST00000438909,;G2E3,3_prime_UTR_variant,,ENST00000548934,;G2E3,non_coding_transcript_exon_variant,,ENST00000549159,;	1863	138	148	SUCCESS
ADAM21P1	145241	.	GRCh37	14	70713155	70713155	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs546253712	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	73	0	ENST00000530196.1:n.1364G>A		p.*455*	ENST00000530196				0	.	T:0	.	T:0	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCGCTTT	NONE	by1000G	.	.	T:0	.	.	T:0.001	1/1	.	.	.	.	.	.	.	.	rs546253712,rs745893637	1/1	nonpreferredpair	ENST00000530196	Transcript	.	T:0.0002	ENSG00000235812	19822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	ADAM21P1	HGNC	.	.	.	SNV	ADAM21P1,non_coding_transcript_exon_variant,,ENST00000530196,;ADAM21P1,non_coding_transcript_exon_variant,,ENST00000529267,;	1364	73	95	SUCCESS
HEATR4	399671	.	GRCh37	14	73989702	73989702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	34	62	0	ENST00000334988.2:c.155G>T	p.Ser52Ile	p.S52I	ENST00000334988	NM_203309.2	52	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS9815.2	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCTGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14	.	.	ENSP00000450444	.	3/18	.	.	.	.	.	.	.	.	.	3/18	nonpreferredpair	ENST00000553558	Transcript	.	.	ENSG00000187105	16761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.02)	.	HEAT4_HUMAN	HEATR4	HGNC	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN	.	UPI00001FD7FD	SNV	HEATR4,missense_variant,p.Ser52Ile,ENST00000334988,;HEATR4,missense_variant,p.Ser52Ile,ENST00000553558,;HEATR4,missense_variant,p.Ser5Ile,ENST00000560393,;HEATR4,missense_variant,p.Ser52Ile,ENST00000556455,;HEATR4,downstream_gene_variant,,ENST00000557603,;HEATR4,downstream_gene_variant,,ENST00000563329,;RP3-414A15.2,intron_variant,,ENST00000555972,;RP3-414A15.11,upstream_gene_variant,,ENST00000553394,;	477	62	79	SUCCESS
ELMSAN1	0	.	GRCh37	14	74191982	74191982	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	54	0	ENST00000286523.5:c.2567A>G	p.Gln856Arg	p.Q856R	ENST00000286523	NM_194278.3	856	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9819.1	2567	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTGCACC	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000286523	.	9/12	.	.	.	.	.	.	.	.	.	9/12	nonpreferredpair	ENST00000286523	Transcript	.	.	ENSG00000156030	19853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	EMSA1_HUMAN	ELMSAN1	HGNC	F6RU81_HUMAN,C9JYU7_HUMAN	.	UPI00001FD815	SNV	ELMSAN1,missense_variant,p.Gln856Arg,ENST00000435371,;ELMSAN1,missense_variant,p.Gln856Arg,ENST00000394071,;ELMSAN1,missense_variant,p.Gln856Arg,ENST00000286523,;ELMSAN1,missense_variant,p.Gln856Arg,ENST00000423556,;ELMSAN1,3_prime_UTR_variant,,ENST00000451078,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000476562,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000483269,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000462716,;ELMSAN1,upstream_gene_variant,,ENST00000478847,;	3350	54	47	SUCCESS
CPSF2	53981	.	GRCh37	14	92609350	92609350	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	59	114	0	ENST00000298875.4:c.852A>G		p.X284_splice	ENST00000298875	NM_017437.2	284	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS9902.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTAGAATG	NONE	.	.	hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,Pfam_domain:PF10996,SMART_domains:SM01027,Superfamily_domains:SSF56281	.	.	ENSP00000298875	.	9/16	.	.	.	.	.	.	.	.	.	9/16	nonpreferredpair	ENST00000298875	Transcript	.	.	ENSG00000165934	2325	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPSF2_HUMAN	CPSF2	HGNC	G3V3T7_HUMAN,B3KN45_HUMAN	.	UPI0000185F22	SNV	CPSF2,synonymous_variant,p.%3D,ENST00000298875,;	1137	114	154	SUCCESS
NBEAP1	606	.	GRCh37	15	20874843	20874843	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs769388642	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	40	117	1	ENST00000556948.1:n.406G>T		p.*136*	ENST00000556948				0	.	.	.	.	.	A	.	retained_intron	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACCCAGTA	NONE	.	.	.	.	.	.	.	3/4	.	.	.	.	.	.	.	.	rs769388642	3/4	nonpreferredpair	ENST00000556948	Transcript	.	.	ENSG00000258590	1007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NBEAP1	HGNC	.	.	.	SNV	NBEAP1,non_coding_transcript_exon_variant,,ENST00000556948,;NBEAP1,non_coding_transcript_exon_variant,,ENST00000554452,;	406	118	171	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42139617	42139617	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776135432	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	39	0	ENST00000382448.4:c.2723A>G	p.Gln908Arg	p.Q908R	ENST00000382448		908	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS32202.1	2723	RADIA|MUTECT|MUSE	.	GCTCCAGCCTC	NONE	byFrequency	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF31,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000441905	.	24/25	.	.	.	.	.	.	.	.	rs776135432	24/25	nonpreferredpair	ENST00000542534	Transcript	.	.	ENSG00000243708	9036	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.18)	.	.	PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	PLA2G4B,missense_variant,p.Gln677Arg,ENST00000458483,;PLA2G4B,missense_variant,p.Gln908Arg,ENST00000542534,;JMJD7-PLA2G4B,missense_variant,p.Gln908Arg,ENST00000382448,;PLA2G4B,missense_variant,p.Gln677Arg,ENST00000452633,;JMJD7-PLA2G4B,intron_variant,,ENST00000342159,;PLA2G4B,intron_variant,,ENST00000569354,;SPTBN5,downstream_gene_variant,,ENST00000320955,;RNA5SP393,downstream_gene_variant,,ENST00000363423,;JMJD7-PLA2G4B,3_prime_UTR_variant,,ENST00000487292,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,non_coding_transcript_exon_variant,,ENST00000483748,;PLA2G4B,downstream_gene_variant,,ENST00000461382,;PLA2G4B,downstream_gene_variant,,ENST00000566076,;SPTBN5,downstream_gene_variant,,ENST00000563899,;	2763	39	40	SUCCESS
SPTBN5	51332	.	GRCh37	15	42185565	42185565	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	40	0	ENST00000320955.6:c.131A>G	p.His44Arg	p.H44R	ENST00000320955	NM_016642.3	44	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS61599.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGTGGCCC	NONE	.	.	Gene3D:1.10.418.10,Superfamily_domains:SSF47576	.	.	ENSP00000317790	.	2/68	.	.	.	.	.	.	.	.	.	2/68	nonpreferredpair	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.His44Arg,ENST00000320955,;RP11-23P13.7,downstream_gene_variant,,ENST00000605942,;RP11-23P13.6,non_coding_transcript_exon_variant,,ENST00000309874,;RP11-23P13.6,intron_variant,,ENST00000564432,;RP11-23P13.6,upstream_gene_variant,,ENST00000562920,;RP11-23P13.6,upstream_gene_variant,,ENST00000568861,;	359	40	44	SUCCESS
GANC	2595	.	GRCh37	15	42566543	42566543	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	17	0	ENST00000318010.8:c.-137G>C		p.*46*	ENST00000318010	NM_198141.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10084.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGAGGGG	NONE	.	.	.	.	.	ENSP00000326227	.	1/24	.	.	.	.	.	.	.	.	.	1/24	nonpreferredpair	ENST00000318010	Transcript	.	.	ENSG00000214013	4139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GANC_HUMAN	GANC	HGNC	H3BUE8_HUMAN,H3BPX5_HUMAN,H3BMW3_HUMAN,H3BMM3_HUMAN	.	UPI00001FE303	SNV	GANC,5_prime_UTR_variant,,ENST00000562859,;GANC,5_prime_UTR_variant,,ENST00000440615,;GANC,5_prime_UTR_variant,,ENST00000566442,;GANC,5_prime_UTR_variant,,ENST00000562170,;GANC,5_prime_UTR_variant,,ENST00000318010,;GANC,5_prime_UTR_variant,,ENST00000561871,;TMEM87A,upstream_gene_variant,,ENST00000307216,;TMEM87A,upstream_gene_variant,,ENST00000561578,;TMEM87A,upstream_gene_variant,,ENST00000389834,;TMEM87A,upstream_gene_variant,,ENST00000566474,;TMEM87A,upstream_gene_variant,,ENST00000568432,;TMEM87A,upstream_gene_variant,,ENST00000568400,;TMEM87A,upstream_gene_variant,,ENST00000563371,;TMEM87A,upstream_gene_variant,,ENST00000448392,;GANC,5_prime_UTR_variant,,ENST00000567784,;GANC,5_prime_UTR_variant,,ENST00000570013,;GANC,upstream_gene_variant,,ENST00000567421,;TMEM87A,upstream_gene_variant,,ENST00000562946,;GANC,upstream_gene_variant,,ENST00000568687,;TMEM87A,upstream_gene_variant,,ENST00000569075,;	104	17	24	SUCCESS
FBN1	2200	.	GRCh37	15	48760297	48760297	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	63	110	0	ENST00000316623.5:c.4585A>T	p.Thr1529Ser	p.T1529S	ENST00000316623	NM_000138.4	1529	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS32232.1	4585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGTATCTA	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312	.	.	ENSP00000325527	.	38/66	.	.	.	.	.	.	.	.	.	38/66	nonpreferredpair	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Thr1529Ser,ENST00000316623,;FBN1,splice_region_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000559133,;	5041	111	149	SUCCESS
ZNF609	23060	.	GRCh37	15	64967591	64967591	+	synonymous_variant	Silent	SNP	T	T	G	rs372733652	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	35	0	ENST00000326648.3:c.2538T>G	p.Ser846=	p.S846=	ENST00000326648	NM_015042.1	846	tcT/tcG	0	G:0	.	.	.	.	G	S	protein_coding	YES	CCDS32270.1	2538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCTGACAT	NONE	byCluster	.	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3	.	G:0.0001	ENSP00000316527	.	4/9	.	.	.	.	.	.	.	.	rs372733652	4/9	nonpreferredpair	ENST00000326648	Transcript	.	.	ENSG00000180357	29003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN609_HUMAN	ZNF609	HGNC	.	.	UPI00001D7783	SNV	ZNF609,synonymous_variant,p.%3D,ENST00000326648,;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,downstream_gene_variant,,ENST00000559364,;ZNF609,downstream_gene_variant,,ENST00000558680,;	2666	35	32	SUCCESS
CALML4	91860	.	GRCh37	15	68497753	68497753	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs776673116	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	15	0	ENST00000467889.1:c.-39A>T		p.*13*	ENST00000467889	NM_033429.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10226.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTTCCTG	NONE	byFrequency	.	.	.	.	ENSP00000419081	.	1/5	.	.	.	.	.	.	.	.	rs776673116	1/5	nonpreferredpair	ENST00000467889	Transcript	.	.	ENSG00000129007	18445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALL4_HUMAN	CALML4	HGNC	H3BS46_HUMAN	.	UPI0000251E74	SNV	CALML4,5_prime_UTR_variant,,ENST00000395465,;CALML4,5_prime_UTR_variant,,ENST00000448060,;CALML4,5_prime_UTR_variant,,ENST00000540479,;CALML4,5_prime_UTR_variant,,ENST00000467889,;RP11-315D16.2,intron_variant,,ENST00000562767,;CLN6,downstream_gene_variant,,ENST00000538696,;CLN6,downstream_gene_variant,,ENST00000564752,;CLN6,downstream_gene_variant,,ENST00000565471,;CLN6,downstream_gene_variant,,ENST00000566347,;CLN6,downstream_gene_variant,,ENST00000418702,;CLN6,downstream_gene_variant,,ENST00000249806,;CALML4,5_prime_UTR_variant,,ENST00000395463,;CLN6,downstream_gene_variant,,ENST00000563917,;CALML4,upstream_gene_variant,,ENST00000478113,;CLN6,downstream_gene_variant,,ENST00000567060,;	147	15	15	SUCCESS
FSD2	123722	.	GRCh37	15	83437679	83437679	+	synonymous_variant	Silent	SNP	A	A	G	rs749681750	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	67	0	ENST00000334574.8:c.1506T>C	p.Thr502=	p.T502=	ENST00000334574		502	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS45332.1	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACAGTGTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000335651	.	9/13	.	.	.	.	.	.	.	.	rs749681750	9/13	nonpreferredpair	ENST00000334574	Transcript	.	.	ENSG00000186628	18024	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSD2_HUMAN	FSD2	HGNC	H0YLA8_HUMAN	.	UPI0000161097	SNV	FSD2,synonymous_variant,p.%3D,ENST00000334574,;FSD2,synonymous_variant,p.%3D,ENST00000541889,;	1688	67	71	SUCCESS
MRPL46	26589	.	GRCh37	15	89008827	89008827	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs146169028	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	40	0	ENST00000312475.4:c.406C>G	p.Arg136Gly	p.R136G	ENST00000312475	NM_022163.3	136	Cgc/Ggc	0	A:0	A:0	.	A:0	.	C	R/G	protein_coding	YES	CCDS10341.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGCGAGCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13124,Pfam_domain:PF11788	A:0.001	A:0.0001	ENSP00000312311	A:0	2/4	.	.	.	.	.	.	.	.	rs146169028	2/4	nonpreferredpair	ENST00000312475	Transcript	.	A:0.0002	ENSG00000259494	1192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	A:0	deleterious(0)	.	RM46_HUMAN	MRPL46	HGNC	.	.	UPI00000467E8	SNV	MRPL46,missense_variant,p.Arg136Gly,ENST00000312475,;MRPS11,upstream_gene_variant,,ENST00000325844,;MRPS11,upstream_gene_variant,,ENST00000353598,;RP11-97O12.7,non_coding_transcript_exon_variant,,ENST00000561140,;MRPS11,upstream_gene_variant,,ENST00000557974,;MRPL46,upstream_gene_variant,,ENST00000559538,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558660,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558531,;MRPL46,intron_variant,,ENST00000560703,;MRPS11,upstream_gene_variant,,ENST00000559125,;MRPS11,upstream_gene_variant,,ENST00000559323,;MRPS11,upstream_gene_variant,,ENST00000558406,;MRPS11,upstream_gene_variant,,ENST00000560708,;MRPS11,upstream_gene_variant,,ENST00000559557,;MRPS11,upstream_gene_variant,,ENST00000560850,;	448	40	51	SUCCESS
SMG1	23049	.	GRCh37	16	18887703	18887703	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	88	153	0	ENST00000446231.2:c.1633G>T	p.Ala545Ser	p.A545S	ENST00000446231		545	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS45430.1	1633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCTACAG	BUFFER|p.H542R|c.1625A>G|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	.	.	ENSP00000402515	.	13/63	.	.	.	.	.	.	.	.	.	13/63	nonpreferredpair	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.16)	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,missense_variant,p.Ala519Ser,ENST00000565224,;SMG1,missense_variant,p.Ala435Ser,ENST00000565324,;SMG1,missense_variant,p.Ala463Ser,ENST00000561947,;SMG1,missense_variant,p.Ala545Ser,ENST00000446231,;SMG1,missense_variant,p.Ala545Ser,ENST00000389467,;SMG1,upstream_gene_variant,,ENST00000563235,;SMG1,non_coding_transcript_exon_variant,,ENST00000568239,;SMG1,upstream_gene_variant,,ENST00000568038,;	2046	153	194	SUCCESS
SCNN1G	6340	.	GRCh37	16	23197855	23197855	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs766420204	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	31	0	ENST00000300061.2:c.263A>T	p.His88Leu	p.H88L	ENST00000300061	NM_001039.3	88	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS10608.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCACTTCC	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859,Gene3D:2qtsA02	.	.	ENSP00000300061	.	2/13	.	.	.	.	.	.	.	.	rs766420204	2/13	nonpreferredpair	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.04)	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,missense_variant,p.His88Leu,ENST00000300061,;	406	31	26	SUCCESS
XPO6	23214	.	GRCh37	16	28222718	28222718	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs559755521	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	55	112	0	ENST00000304658.5:c.-29T>A		p.*10*	ENST00000304658	NM_015171.3			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS42135.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGAGCTGG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000302790	T:0.001	1/24	.	.	.	.	.	.	.	.	rs559755521	1/24	nonpreferredpair	ENST00000304658	Transcript	.	T:0.0004	ENSG00000169180	19733	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,5_prime_UTR_variant,,ENST00000304658,;XPO6,5_prime_UTR_variant,,ENST00000566073,;XPO6,5_prime_UTR_variant,,ENST00000569951,;XPO6,5_prime_UTR_variant,,ENST00000565698,;	473	112	115	SUCCESS
ZNF174	7727	.	GRCh37	16	3458764	3458764	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs753184330	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	84	0	ENST00000268655.4:c.1069G>A	p.Gly357Arg	p.G357R	ENST00000268655	NM_003450.2	357	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10504.1	1069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCGGAGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF10,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000268655	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000268655	Transcript	.	.	ENSG00000103343	12963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated(0.36)	.	ZN174_HUMAN	ZNF174	HGNC	.	.	UPI000013C309	SNV	ZNF174,missense_variant,p.Gly357Arg,ENST00000571936,;ZNF174,missense_variant,p.Gly357Arg,ENST00000268655,;ZNF174,downstream_gene_variant,,ENST00000344823,;ZNF174,downstream_gene_variant,,ENST00000575752,;ZNF174,downstream_gene_variant,,ENST00000572544,;NAA60,intron_variant,,ENST00000575785,;	1654	84	73	SUCCESS
SIAH1	6477	.	GRCh37	16	48395984	48395984	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	100	0	ENST00000380006.2:c.356A>C	p.Glu119Ala	p.E119A	ENST00000380006		119	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS32444.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTCTTCA	NONE	.	.	Superfamily_domains:SSF49599,Gene3D:1k2fA02,Pfam_domain:PF03145,hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23,PROSITE_profiles:PS51081	.	.	ENSP00000349156	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000356721	Transcript	.	.	ENSG00000196470	10857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.13)	.	SIAH1_HUMAN	SIAH1	HGNC	H3BU09_HUMAN	.	UPI0000074729	SNV	SIAH1,missense_variant,p.Glu119Ala,ENST00000380006,;SIAH1,missense_variant,p.Glu119Ala,ENST00000394725,;SIAH1,missense_variant,p.Glu150Ala,ENST00000356721,;LONP2,3_prime_UTR_variant,,ENST00000565867,;LONP2,downstream_gene_variant,,ENST00000285737,;SIAH1,downstream_gene_variant,,ENST00000563745,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,downstream_gene_variant,,ENST00000573005,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,missense_variant,p.Glu119Ala,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,downstream_gene_variant,,ENST00000565185,;	873	100	82	SUCCESS
CDH11	1009	.	GRCh37	16	65016064	65016064	+	synonymous_variant	Silent	SNP	G	G	A	rs1567506882	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	39	77	0	ENST00000268603.4:c.1140C>T	p.Pro380=	p.P380=	ENST00000268603	NM_001797.2	380	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10803.1	1140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGGGGCTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000268603	.	8/13	.	.	.	.	.	.	.	.	COSM1378745	8/13	nonpreferredpair	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,synonymous_variant,p.%3D,ENST00000268603,;CDH11,synonymous_variant,p.%3D,ENST00000566827,;	1756	77	53	SUCCESS
AARS	0	.	GRCh37	16	70299543	70299543	+	synonymous_variant	Silent	SNP	A	A	G	rs755334113	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	30	66	0	ENST00000261772.8:c.1245T>C	p.Tyr415=	p.Y415=	ENST00000261772	NM_001605.2	415	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS32474.1	1245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCATAGAG	NONE	.	.	PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344,Pfam_domain:PF01411,Superfamily_domains:0049182	.	.	ENSP00000261772	.	10/21	.	.	.	.	.	.	.	.	rs755334113	10/21	nonpreferredpair	ENST00000261772	Transcript	.	.	ENSG00000090861	20	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYAC_HUMAN	AARS	HGNC	.	.	UPI0000169F0B	SNV	AARS,synonymous_variant,p.%3D,ENST00000261772,;AARS,upstream_gene_variant,,ENST00000565361,;RN7SL407P,upstream_gene_variant,,ENST00000583724,;AARS,non_coding_transcript_exon_variant,,ENST00000569790,;AARS,upstream_gene_variant,,ENST00000564359,;AARS,upstream_gene_variant,,ENST00000566969,;AARS,upstream_gene_variant,,ENST00000567490,;	1389	66	41	SUCCESS
TOP3A	7156	.	GRCh37	17	18193874	18193874	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	29	0	ENST00000321105.5:c.1594A>T	p.Ile532Phe	p.I532F	ENST00000321105	NM_004618.3	532	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS11194.1	1594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATGCCAT	NONE	.	.	hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Gene3D:1.10.460.10,Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712,Prints_domain:PR00417	.	.	ENSP00000321636	.	13/19	.	.	.	.	.	.	.	.	.	13/19	nonpreferredpair	ENST00000321105	Transcript	.	.	ENSG00000177302	11992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TOP3A_HUMAN	TOP3A	HGNC	B4DSJ0_HUMAN,A8K398_HUMAN	.	UPI00001371A0	SNV	TOP3A,missense_variant,p.Ile507Phe,ENST00000580095,;TOP3A,missense_variant,p.Ile62Phe,ENST00000540524,;TOP3A,missense_variant,p.Ile532Phe,ENST00000321105,;TOP3A,missense_variant,p.Ile437Phe,ENST00000542570,;TOP3A,missense_variant,p.Ile68Phe,ENST00000582122,;TOP3A,3_prime_UTR_variant,,ENST00000581536,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583804,;TOP3A,intron_variant,,ENST00000469739,;	1809	29	28	SUCCESS
TBC1D28	254272	.	GRCh37	17	18541690	18541690	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758826020	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	82	0	ENST00000345096.4:c.323G>A	p.Gly108Asp	p.G108D	ENST00000345096		108	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS42273.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCCCGC	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF242,Pfam_domain:PF00566,Gene3D:2qq8A02,Superfamily_domains:SSF47923	.	.	ENSP00000339973	.	7/9	.	.	.	.	.	.	.	.	rs758826020	7/9	nonpreferredpair	ENST00000345096	Transcript	.	.	ENSG00000189375	26858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	TBC28_HUMAN	TBC1D28	HGNC	I3L4T3_HUMAN,I3L197_HUMAN	.	UPI0000251DA5	SNV	TBC1D28,missense_variant,p.Gly108Asp,ENST00000345096,;TBC1D28,missense_variant,p.Gly108Asp,ENST00000405044,;TBC1D28,downstream_gene_variant,,ENST00000575211,;TBC1D28,downstream_gene_variant,,ENST00000573652,;TBC1D28,downstream_gene_variant,,ENST00000572213,;TBC1D28,downstream_gene_variant,,ENST00000575220,;TBC1D28,downstream_gene_variant,,ENST00000575970,;TBC1D28,downstream_gene_variant,,ENST00000579178,;TBC1D28,downstream_gene_variant,,ENST00000575570,;TBC1D28,downstream_gene_variant,,ENST00000570881,;RP11-815I9.3,upstream_gene_variant,,ENST00000571884,;	1023	82	112	SUCCESS
MAPK7	5598	.	GRCh37	17	19284705	19284705	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	53	0	ENST00000308406.5:c.1183A>T	p.Ile395Phe	p.I395F	ENST00000308406	NM_139033.2	395	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11206.1	1183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCATCCGC	NONE	.	.	hmmpanther:PTHR24055:SF7,hmmpanther:PTHR24055	.	.	ENSP00000311005	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.34)	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,missense_variant,p.Ile395Phe,ENST00000395602,;MAPK7,missense_variant,p.Ile395Phe,ENST00000395604,;MAPK7,missense_variant,p.Ile395Phe,ENST00000308406,;MAPK7,missense_variant,p.Ile256Phe,ENST00000299612,;MFAP4,downstream_gene_variant,,ENST00000395592,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,intron_variant,,ENST00000573417,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000572716,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572853,;	1569	53	38	SUCCESS
MLLT6	4302	.	GRCh37	17	36868254	36868254	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	119	0	ENST00000325718.7:c.707G>C	p.Arg236Thr	p.R236T	ENST00000325718	NM_005937.3	236	aGg/aCg	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS11327.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGAGGGGCC	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF82	.	.	ENSP00000316426	.	7/20	.	.	.	.	.	.	.	.	.	7/20	nonpreferredpair	ENST00000325718	Transcript	.	.	ENSG00000108292	7138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	AF17_HUMAN	MLLT6	HGNC	.	.	UPI000013C86A	SNV	MLLT6,missense_variant,p.Arg236Thr,ENST00000378137,;MLLT6,missense_variant,p.Arg236Thr,ENST00000325718,;CTB-58E17.9,downstream_gene_variant,,ENST00000579499,;MLLT6,downstream_gene_variant,,ENST00000579179,;MLLT6,non_coding_transcript_exon_variant,,ENST00000466997,;MLLT6,non_coding_transcript_exon_variant,,ENST00000578946,;MLLT6,downstream_gene_variant,,ENST00000464666,;	798	119	105	SUCCESS
STAC2	342667	.	GRCh37	17	37371219	37371219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	49	0	ENST00000333461.5:c.757G>T	p.Gly253Trp	p.G253W	ENST00000333461	NM_198993.3	253	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS11335.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCCTCCT	NONE	.	.	hmmpanther:PTHR15135:SF5,hmmpanther:PTHR15135	.	.	ENSP00000327509	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000333461	Transcript	.	.	ENSG00000141750	23990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	deleterious(0.02)	.	STAC2_HUMAN	STAC2	HGNC	D0IN09_HUMAN	.	UPI0000223E4D	SNV	STAC2,missense_variant,p.Gly253Trp,ENST00000333461,;STAC2,3_prime_UTR_variant,,ENST00000584501,;	1127	49	56	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43545720	43545720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	107	0	ENST00000430334.3:c.1163A>G	p.Gln388Arg	p.Q388R	ENST00000430334	NM_014798.2	388	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32671.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGCTGT	NONE	.	.	hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5	.	.	ENSP00000389913	.	5/12	.	.	.	.	.	.	.	.	.	5/12	nonpreferredpair	ENST00000430334	Transcript	.	.	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.2)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Gln299Arg,ENST00000421073,;PLEKHM1,missense_variant,p.Gln388Arg,ENST00000430334,;AC091132.1,downstream_gene_variant,,ENST00000433601,;RN7SL730P,downstream_gene_variant,,ENST00000583727,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000582119,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,intron_variant,,ENST00000581448,;	1297	107	95	SUCCESS
RP11-112H10.4	0	.	GRCh37	17	56620661	56620661	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	51	109	0	ENST00000580769.1:n.150-157A>T		p.*50*	ENST00000580769		296		0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS32691.1	887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAAGAGAC	NONE	.	.	Pfam_domain:PF15548	.	.	ENSP00000354874	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000321691	Transcript	.	.	ENSG00000181013	26844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.557)	.	tolerated(0.53)	.	CQ047_HUMAN	C17orf47	HGNC	.	.	UPI0000140BFA	SNV	C17orf47,missense_variant,p.Leu296His,ENST00000321691,;SEPT4,upstream_gene_variant,,ENST00000457347,;SEPT4,upstream_gene_variant,,ENST00000412945,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,intron_variant,,ENST00000578022,;RP11-112H10.4,intron_variant,,ENST00000580769,;SEPT4,upstream_gene_variant,,ENST00000581921,;	1069	109	179	SUCCESS
BCAS3	54828	.	GRCh37	17	59445783	59445783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	30	0	ENST00000390652.5:c.2566G>A	p.Glu856Lys	p.E856K	ENST00000390652	NM_001099432.1	856	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45749.1	2566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGAGGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13268	.	.	ENSP00000375067	.	24/25	.	.	.	.	.	.	.	.	.	24/25	nonpreferredpair	ENST00000390652	Transcript	.	.	ENSG00000141376	14347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	tolerated(0.21)	.	BCAS3_HUMAN	BCAS3	HGNC	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN	.	UPI00001AE949	SNV	BCAS3,missense_variant,p.Glu841Lys,ENST00000589222,;BCAS3,missense_variant,p.Glu841Lys,ENST00000408905,;BCAS3,missense_variant,p.Glu856Lys,ENST00000588462,;BCAS3,missense_variant,p.Glu856Lys,ENST00000390652,;BCAS3,missense_variant,p.Glu627Lys,ENST00000585744,;BCAS3,missense_variant,p.Glu841Lys,ENST00000407086,;BCAS3,missense_variant,p.Glu612Lys,ENST00000588874,;BCAS3,downstream_gene_variant,,ENST00000587002,;RP11-332H18.5,intron_variant,,ENST00000585765,;BCAS3,non_coding_transcript_exon_variant,,ENST00000592702,;BCAS3,non_coding_transcript_exon_variant,,ENST00000585812,;BCAS3,non_coding_transcript_exon_variant,,ENST00000587294,;BCAS3,non_coding_transcript_exon_variant,,ENST00000588569,;BCAS3,downstream_gene_variant,,ENST00000585979,;	2597	30	72	SUCCESS
CSHL1	1444	.	GRCh37	17	61987909	61987909	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	49	103	0	ENST00000309894.5:c.191-14C>T		p.*64*	ENST00000309894	NM_022579.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAGGACCC	NONE	.	.	.	.	.	ENSP00000309524	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000309894	Transcript	.	.	ENSG00000204414	2442	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSHL_HUMAN	CSHL1	HGNC	I6L999_HUMAN	.	UPI00001602B9	SNV	CSHL1,missense_variant,p.Pro129Leu,ENST00000392824,;CSHL1,intron_variant,,ENST00000259003,;CSHL1,intron_variant,,ENST00000561003,;CSHL1,intron_variant,,ENST00000450719,;CSHL1,intron_variant,,ENST00000309894,;CSHL1,intron_variant,,ENST00000346606,;CSHL1,intron_variant,,ENST00000438387,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	.	103	159	SUCCESS
NPTX1	4884	.	GRCh37	17	78450179	78450179	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs752439399	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	15	0	ENST00000306773.4:c.68A>T	p.Gln23Leu	p.Q23L	ENST00000306773	NM_002522.3	23	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32762.1	68	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTGGGCC	NONE	.	.	hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF24	.	.	ENSP00000307549	.	1/5	.	.	.	.	.	.	.	.	rs752439399	1/5	nonpreferredpair	ENST00000306773	Transcript	.	.	ENSG00000171246	7952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious(0.04)	.	NPTX1_HUMAN	NPTX1	HGNC	.	.	UPI000013EB88	SNV	NPTX1,missense_variant,p.Gln23Leu,ENST00000306773,;NPTX1,intron_variant,,ENST00000575212,;NPTX1,upstream_gene_variant,,ENST00000535681,;NPTX1,upstream_gene_variant,,ENST00000571100,;	226	15	38	SUCCESS
MC4R	4160	.	GRCh37	18	58039130	58039130	+	synonymous_variant	Silent	SNP	G	G	A	rs142925940	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	60	0	ENST00000299766.3:c.453C>T	p.Ile151=	p.I151=	ENST00000299766	NM_005912.2	151	atC/atT	0	A:0.0002	.	.	.	.	A	I	protein_coding	YES	CCDS11976.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAAGATAGT	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534	.	A:0	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	rs142925940	1/1	nonpreferredpair	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,synonymous_variant,p.%3D,ENST00000299766,;	872	60	61	SUCCESS
CDH7	1005	.	GRCh37	18	63530135	63530135	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	54	0	ENST00000323011.3:c.1846T>A	p.Cys616Ser	p.C616S	ENST00000323011	NM_033646.1	616	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS11993.1	1846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCTGTGTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91	.	.	ENSP00000381058	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious(0.04)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Cys616Ser,ENST00000397968,;CDH7,missense_variant,p.Cys616Ser,ENST00000536984,;CDH7,missense_variant,p.Cys616Ser,ENST00000323011,;RP11-389J22.1,upstream_gene_variant,,ENST00000581987,;	2272	54	61	SUCCESS
ABCA7	10347	.	GRCh37	19	1052055	1052055	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs530537679	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	24	0	ENST00000263094.6:c.3077G>A	p.Arg1026His	p.R1026H	ENST00000263094	NM_019112.3	1026	cGc/cAc	0	.	A:0	.	A:0.0014	.	A	R/H	protein_coding	YES	CCDS12055.1	3077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGCCGTC	NONE	by1000G	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300	A:0	.	ENSP00000263094	A:0	22/47	.	.	.	.	.	.	.	.	rs530537679	22/47	nonpreferredpair	ENST00000263094	Transcript	.	A:0.0002	ENSG00000064687	37	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	A:0	deleterious(0.01)	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,missense_variant,p.Arg1026His,ENST00000433129,;ABCA7,missense_variant,p.Arg1026His,ENST00000263094,;ABCA7,missense_variant,p.Arg888His,ENST00000435683,;ABCA7,upstream_gene_variant,,ENST00000525073,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000532194,;ABCA7,upstream_gene_variant,,ENST00000529442,;ABCA7,upstream_gene_variant,,ENST00000530092,;	3308	24	46	SUCCESS
SLC1A6	6511	.	GRCh37	19	15063777	15063777	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	37	123	0	ENST00000221742.3:c.1462G>T	p.Glu488Ter	p.E488*	ENST00000221742	NM_005071.2	488	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12321.1	1462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCGTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221,Prints_domain:PR00173	.	.	ENSP00000221742	.	8/9	.	.	.	.	.	.	.	.	COSM3891682	8/9	nonpreferredpair	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,stop_gained,p.Glu410Ter,ENST00000600144,;SLC1A6,stop_gained,p.Glu488Ter,ENST00000221742,;SLC1A6,stop_gained,p.Glu424Ter,ENST00000430939,;	1470	123	129	SUCCESS
ZNF101	94039	.	GRCh37	19	19790802	19790802	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	64	0	ENST00000318110.5:c.1004A>G	p.Glu335Gly	p.E335G	ENST00000318110		335	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32971.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGAAAGAC	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24379,PROSITE_profiles:PS50157	.	.	ENSP00000468049	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000592502	Transcript	.	.	ENSG00000181896	12881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	deleterious(0.01)	.	ZN101_HUMAN	ZNF101	HGNC	Q96F93_HUMAN,Q0VDG9_HUMAN,K7ENV8_HUMAN	.	UPI0000074138	SNV	ZNF101,missense_variant,p.Glu215Gly,ENST00000415784,;ZNF101,missense_variant,p.Glu335Gly,ENST00000592502,;ZNF101,3_prime_UTR_variant,,ENST00000444249,;ZNF101,downstream_gene_variant,,ENST00000541458,;ZNF101,upstream_gene_variant,,ENST00000586745,;ZNF101,missense_variant,p.Glu335Gly,ENST00000318110,;ZNF101,missense_variant,p.Glu46Gly,ENST00000585565,;ZNF101,non_coding_transcript_exon_variant,,ENST00000415440,;	1114	64	74	SUCCESS
ZNF492	57615	.	GRCh37	19	22836116	22836116	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	188	161	258	1	ENST00000456783.2:c.-86T>A		p.*29*	ENST00000456783	NM_020855.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46032.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTTGACAT	NONE	.	.	.	.	.	ENSP00000413660	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,5_prime_UTR_variant,,ENST00000456783,;	159	259	349	SUCCESS
ZNF536	9745	.	GRCh37	19	31038966	31038966	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	56	102	0	ENST00000355537.3:c.2440G>T	p.Gly814Trp	p.G814W	ENST00000355537	NM_014717.1	814	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS32984.1	2440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGGGCAA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly814Trp,ENST00000585628,;ZNF536,missense_variant,p.Gly814Trp,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2587	102	120	SUCCESS
ZNF536	9745	.	GRCh37	19	31038967	31038967	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	53	101	0	ENST00000355537.3:c.2441G>T	p.Gly814Val	p.G814V	ENST00000355537	NM_014717.1	814	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32984.1	2441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGGCAAC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	COSM1392473,COSM3970889	4/5	nonpreferredpair	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.619)	.	deleterious(0)	1,1	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Gly814Val,ENST00000585628,;ZNF536,missense_variant,p.Gly814Val,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;	2588	101	117	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768760	31768760	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	33	0	ENST00000240587.4:c.1939A>C	p.Ser647Arg	p.S647R	ENST00000240587	NM_020856.2	647	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS12421.2	1939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTACATG	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	tolerated(0.37)	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,missense_variant,p.Ser647Arg,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2267	33	45	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36269405	36269405	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374221923	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	39	0	ENST00000314737.5:c.310C>T	p.Arg104Cys	p.R104C	ENST00000314737	NM_052948.3	104	Cgt/Tgt	0	T:0.0002	.	.	.	.	T	R/C	protein_coding	YES	CCDS12477.1	310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCGTTCC	NONE	byCluster	.	Superfamily_domains:SSF64268,Gene3D:3.30.1520.10,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	.	T:0	ENSP00000320038	.	5/21	.	.	.	.	.	.	.	.	rs374221923	5/21	nonpreferredpair	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	tolerated_low_confidence(0.1)	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,missense_variant,p.Arg104Cys,ENST00000007510,;ARHGAP33,missense_variant,p.Arg104Cys,ENST00000314737,;ARHGAP33,5_prime_UTR_variant,,ENST00000378944,;ARHGAP33,upstream_gene_variant,,ENST00000587447,;ARHGAP33,upstream_gene_variant,,ENST00000588248,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000221905,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000589133,;ARHGAP33,upstream_gene_variant,,ENST00000591438,;ARHGAP33,intron_variant,,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000586918,;	394	39	34	SUCCESS
PIP5K1C	23396	.	GRCh37	19	3648626	3648626	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	93	0	ENST00000335312.3:c.1208A>T	p.Tyr403Phe	p.Y403F	ENST00000335312	NM_012398.2	403	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS32872.1	1208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTAGGAC	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF26,Pfam_domain:PF01504,Gene3D:1bo1A02,SMART_domains:SM00330,Superfamily_domains:SSF56104	.	.	ENSP00000335333	.	9/18	.	.	.	.	.	.	.	.	.	9/18	nonpreferredpair	ENST00000335312	Transcript	1	.	ENSG00000186111	8996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	deleterious(0.02)	.	PI51C_HUMAN	PIP5K1C	HGNC	Q7LE22_HUMAN	.	UPI000019C574	SNV	PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000589578,;PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000539785,;PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000537021,;PIP5K1C,missense_variant,p.Tyr403Phe,ENST00000335312,;PIP5K1C,non_coding_transcript_exon_variant,,ENST00000592530,;PIP5K1C,downstream_gene_variant,,ENST00000587482,;	1297	93	98	SUCCESS
ZNF793	390927	.	GRCh37	19	38024278	38024278	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766584030	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	53	89	0	ENST00000445217.1:c.211G>A	p.Ala71Thr	p.A71T	ENST00000445217		71	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46062.1	211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGCAGCA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42	.	.	ENSP00000396402	.	3/4	.	.	.	.	.	.	.	.	rs766584030	3/4	nonpreferredpair	ENST00000445217	Transcript	.	.	ENSG00000188227	33115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.5)	.	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	SNV	ZNF793,missense_variant,p.Ala71Thr,ENST00000587143,;ZNF793,missense_variant,p.Ala71Thr,ENST00000542455,;ZNF793,missense_variant,p.Ala64Thr,ENST00000587490,;ZNF793,missense_variant,p.Ala71Thr,ENST00000589319,;ZNF793,missense_variant,p.Ala71Thr,ENST00000588578,;ZNF793,missense_variant,p.Ala71Thr,ENST00000587986,;ZNF793,missense_variant,p.Ala71Thr,ENST00000445217,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,missense_variant,p.Ala24Thr,ENST00000586187,;	246	89	115	SUCCESS
ZFR2	23217	.	GRCh37	19	3820200	3820200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	43	0	ENST00000262961.4:c.1720C>A	p.Pro574Thr	p.P574T	ENST00000262961	NM_015174.1	574	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45921.1	1720	RADIA|MUTECT|MUSE	.	GGCGGGTGACT	NONE	.	.	PROSITE_profiles:PS51703,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85	.	.	ENSP00000262961	.	11/19	.	.	.	.	.	.	.	.	.	11/19	nonpreferredpair	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.566)	.	deleterious(0)	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,missense_variant,p.Pro574Thr,ENST00000262961,;ZFR2,downstream_gene_variant,,ENST00000438164,;	1731	43	46	SUCCESS
SERTAD3	29946	.	GRCh37	19	40947776	40947776	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	37	0	ENST00000322354.3:c.212T>A	p.Leu71Gln	p.L71Q	ENST00000322354	NM_203344.2	71	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS12558.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGGCGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51053,hmmpanther:PTHR15530,hmmpanther:PTHR15530:SF0	.	.	ENSP00000325414	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000322354	Transcript	.	.	ENSG00000167565	17931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	SRTD3_HUMAN	SERTAD3	HGNC	M0R352_HUMAN,M0QXL4_HUMAN	.	UPI0000072807	SNV	SERTAD3,missense_variant,p.Leu71Gln,ENST00000392028,;SERTAD3,missense_variant,p.Leu71Gln,ENST00000599706,;SERTAD3,missense_variant,p.Leu71Gln,ENST00000322354,;SERTAD3,missense_variant,p.Leu71Gln,ENST00000596456,;CTC-492K19.4,upstream_gene_variant,,ENST00000599050,;SERTAD3,upstream_gene_variant,,ENST00000601217,;	709	37	35	SUCCESS
DMRTC2	63946	.	GRCh37	19	42353305	42353305	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782270178	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	45	0	ENST00000269945.3:c.740del	p.Pro247LeufsTer10	p.P247Lfs*10	ENST00000269945	NM_001040283.1	246	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS33034.1	736	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGGGCCCCCT	NONE	.	.	hmmpanther:PTHR12322:SF12,hmmpanther:PTHR12322	.	.	ENSP00000269945	.	6/9	.	.	.	.	.	.	.	.	rs782270178,COSM4154225	6/9	nonpreferredpair	ENST00000269945	Transcript	.	.	ENSG00000142025	13911	4	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	DMRTD_HUMAN	DMRTC2	HGNC	M0R2D7_HUMAN,M0R1Z9_HUMAN,M0QZH7_HUMAN	.	UPI0000071B2A	deletion	DMRTC2,frameshift_variant,p.Pro247LeufsTer10,ENST00000269945,;DMRTC2,frameshift_variant,p.Pro247LeufsTer10,ENST00000596827,;LYPD4,upstream_gene_variant,,ENST00000330743,;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,downstream_gene_variant,,ENST00000600017,;DMRTC2,downstream_gene_variant,,ENST00000596258,;DMRTC2,downstream_gene_variant,,ENST00000596660,;DMRTC2,downstream_gene_variant,,ENST00000602098,;DMRTC2,3_prime_UTR_variant,,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;	787	45	81	SUCCESS
ZNF180	7733	.	GRCh37	19	44981527	44981527	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	68	0	ENST00000221327.4:c.1171A>C	p.Ser391Arg	p.S391R	ENST00000221327	NM_013256.4	391	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS12639.1	1171	RADIA|MUTECT|MUSE	.	CCGGCTGAAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000221327	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000221327	Transcript	.	.	ENSG00000167384	12970	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.493)	.	tolerated(0.38)	.	ZN180_HUMAN	ZNF180	HGNC	K7EQX9_HUMAN,K7EQP0_HUMAN	.	UPI000013C7BD	SNV	ZNF180,missense_variant,p.Ser364Arg,ENST00000592529,;ZNF180,missense_variant,p.Ser366Arg,ENST00000391956,;ZNF180,missense_variant,p.Ser391Arg,ENST00000221327,;ZNF180,downstream_gene_variant,,ENST00000587047,;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,downstream_gene_variant,,ENST00000591064,;AC069278.4,upstream_gene_variant,,ENST00000591684,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,3_prime_UTR_variant,,ENST00000592095,;ZNF180,3_prime_UTR_variant,,ENST00000590088,;ZNF285B,downstream_gene_variant,,ENST00000561698,;ZNF285B,downstream_gene_variant,,ENST00000318605,;	1453	68	77	SUCCESS
RTN2	6253	.	GRCh37	19	46000221	46000223	+	5_prime_UTR_variant	5'UTR	DEL	GCC	GCC	-	rs3833261	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	GCC	GCC	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	9	0	ENST00000245923.4:c.-140_-138del		p.*47*	ENST00000245923	NM_005619.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12665.1	.	INDELOCATOR|VARSCANI	.	GCTCCAGCCGCCGC	NONE	byCluster	.	.	.	.	ENSP00000245923	.	1/11	.	.	.	.	.	.	.	.	rs3833261	1/11	nonpreferredpair	ENST00000245923	Transcript	1	.	ENSG00000125744	10468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTN2_HUMAN	RTN2	HGNC	K7EMR7_HUMAN	.	UPI00001352DC	deletion	RTN2,5_prime_UTR_variant,,ENST00000590526,;RTN2,5_prime_UTR_variant,,ENST00000344680,;RTN2,5_prime_UTR_variant,,ENST00000245923,;PPM1N,intron_variant,,ENST00000401705,;PPM1N,upstream_gene_variant,,ENST00000396735,;PPM1N,upstream_gene_variant,,ENST00000451287,;PPM1N,upstream_gene_variant,,ENST00000396736,;RTN2,upstream_gene_variant,,ENST00000430715,;PPM1N,upstream_gene_variant,,ENST00000456399,;PPM1N,upstream_gene_variant,,ENST00000396737,;PPM1N,upstream_gene_variant,,ENST00000324688,;PPM1N,upstream_gene_variant,,ENST00000401593,;RTN2,upstream_gene_variant,,ENST00000590746,;RTN2,upstream_gene_variant,,ENST00000589384,;RTN2,upstream_gene_variant,,ENST00000588036,;RTN2,5_prime_UTR_variant,,ENST00000587597,;RTN2,5_prime_UTR_variant,,ENST00000591286,;PPM1N,upstream_gene_variant,,ENST00000415077,;RTN2,upstream_gene_variant,,ENST00000592064,;	97-99	9	15	SUCCESS
PTGIR	5739	.	GRCh37	19	47124692	47124692	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs916113670	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	47	72	0	ENST00000291294.2:c.1006C>T	p.Pro336Ser	p.P336S	ENST00000291294	NM_000960.3	336	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12686.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGGGCCC	NONE	.	.	hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF7	.	.	ENSP00000291294	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000291294	Transcript	.	.	ENSG00000160013	9602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated_low_confidence(0.07)	.	PI2R_HUMAN	PTGIR	HGNC	M0QZW0_HUMAN,M0QZI2_HUMAN,M0QXV5_HUMAN	.	UPI000005042B	SNV	PTGIR,missense_variant,p.Pro65Ser,ENST00000597185,;PTGIR,missense_variant,p.Pro93Ser,ENST00000594275,;PTGIR,missense_variant,p.Pro124Ser,ENST00000598865,;PTGIR,missense_variant,p.Pro336Ser,ENST00000291294,;PTGIR,downstream_gene_variant,,ENST00000596260,;PTGIR,downstream_gene_variant,,ENST00000595460,;	1140	72	98	SUCCESS
EMP3	2014	.	GRCh37	19	48833658	48833658	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	37	0	ENST00000270221.6:c.423G>T	p.Leu141=	p.L141=	ENST00000270221	NM_001425.2	141	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12715.1	423	MUTECT|MUSE	.	GCCCTGGCCTG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR01453,Pfam_domain:PF00822,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF8	.	.	ENSP00000270221	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000270221	Transcript	.	.	ENSG00000142227	3335	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EMP3_HUMAN	EMP3	HGNC	M0R1L9_HUMAN,M0QZ66_HUMAN,M0QXS0_HUMAN	.	UPI0000129EAB	SNV	EMP3,missense_variant,p.Gly121Cys,ENST00000593437,;EMP3,synonymous_variant,p.%3D,ENST00000597279,;EMP3,synonymous_variant,p.%3D,ENST00000270221,;EMP3,synonymous_variant,p.%3D,ENST00000596315,;TMEM143,downstream_gene_variant,,ENST00000541566,;TMEM143,downstream_gene_variant,,ENST00000293261,;EMP3,downstream_gene_variant,,ENST00000594198,;EMP3,downstream_gene_variant,,ENST00000599704,;TMEM143,downstream_gene_variant,,ENST00000436660,;TMEM143,downstream_gene_variant,,ENST00000377431,;TMEM143,downstream_gene_variant,,ENST00000435956,;EMP3,3_prime_UTR_variant,,ENST00000599255,;EMP3,non_coding_transcript_exon_variant,,ENST00000597057,;TMEM143,downstream_gene_variant,,ENST00000600816,;EMP3,downstream_gene_variant,,ENST00000597529,;	724	37	34	SUCCESS
ZNF773	374928	.	GRCh37	19	58018610	58018610	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	112	0	ENST00000282292.4:c.1147G>C	p.Gly383Arg	p.G383R	ENST00000282292	NM_198542.1	383	Gga/Cga	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS33134.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGGAGAA	BUFFER|p.K385K|c.1155A>G|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF40,hmmpanther:PTHR24387,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000282292	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000282292	Transcript	.	.	ENSG00000152439	30487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN773_HUMAN	ZNF773	HGNC	.	.	UPI00001BD93D	SNV	ZNF773,missense_variant,p.Gly383Arg,ENST00000282292,;ZNF773,missense_variant,p.Gly382Arg,ENST00000598770,;ZNF773,intron_variant,,ENST00000593916,;ZNF773,intron_variant,,ENST00000599847,;ZNF773,intron_variant,,ENST00000597061,;AC003005.4,downstream_gene_variant,,ENST00000599674,;AC003005.4,downstream_gene_variant,,ENST00000601674,;ZNF773,downstream_gene_variant,,ENST00000601958,;	1287	112	124	SUCCESS
MUC16	94025	.	GRCh37	19	9074549	9074549	+	synonymous_variant	Silent	SNP	A	A	T	rs1220252762	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	22	39	0	ENST00000397910.4:c.12897T>A	p.Ile4299=	p.I4299=	ENST00000397910	NM_024690.2	4299	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS54212.1	12897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCAATCTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	nonpreferredpair	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	13101	39	28	SUCCESS
SLC25A24	29957	.	GRCh37	1	108686249	108686249	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	25	58	0	ENST00000565488.1:c.1014A>G	p.Glu338=	p.E338=	ENST00000565488	NM_013386.4	338	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS41361.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTTCATG	NONE	.	.	Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF262,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	.	.	ENSP00000457733	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000565488	Transcript	.	.	ENSG00000085491	20662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCMC1_HUMAN	SLC25A24	HGNC	.	.	UPI0000206111	SNV	SLC25A24,synonymous_variant,p.%3D,ENST00000565488,;SLC25A24,synonymous_variant,p.%3D,ENST00000370041,;SLC25A24,3_prime_UTR_variant,,ENST00000264128,;	1234	58	131	SUCCESS
RAP1A	5906	.	GRCh37	1	112247100	112247100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	52	80	0	ENST00000356415.1:c.460G>A	p.Val154Ile	p.V154I	ENST00000356415		154	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS840.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATGTTAAT	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF239,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000358723	.	6/8	.	.	.	.	.	.	.	.	.	6/8	nonpreferredpair	ENST00000369709	Transcript	.	.	ENSG00000116473	9855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.1)	.	RAP1A_HUMAN	RAP1A	HGNC	F8WBC0_HUMAN,A8KAH9_HUMAN	.	UPI0000001250	SNV	RAP1A,missense_variant,p.Val154Ile,ENST00000436150,;RAP1A,missense_variant,p.Val154Ile,ENST00000356415,;RAP1A,missense_variant,p.Val154Ile,ENST00000545460,;RAP1A,missense_variant,p.Val154Ile,ENST00000369709,;RAP1A,downstream_gene_variant,,ENST00000433097,;RAP1A,non_coding_transcript_exon_variant,,ENST00000494982,;FAM212B,intron_variant,,ENST00000527570,;	639	80	141	SUCCESS
SV2A	9900	.	GRCh37	1	149879627	149879627	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	48	115	0	ENST00000369146.3:c.1511A>T	p.Gln504Leu	p.Q504L	ENST00000369146	NM_014849.4	504	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS940.1	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTGATTC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24065:SF4,hmmpanther:PTHR24065,TIGRFAM_domain:TIGR01299,Superfamily_domains:SSF141571	.	.	ENSP00000358142	.	9/13	.	.	.	.	.	.	.	.	.	9/13	nonpreferredpair	ENST00000369146	Transcript	.	.	ENSG00000159164	20566	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0.04)	.	SV2A_HUMAN	SV2A	HGNC	.	.	UPI000000DAD2	SNV	SV2A,missense_variant,p.Gln504Leu,ENST00000369145,;SV2A,missense_variant,p.Gln504Leu,ENST00000369146,;	2002	115	182	SUCCESS
CRNN	49860	.	GRCh37	1	152382364	152382364	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	51	0	ENST00000271835.3:c.1194A>T	p.Thr398=	p.T398=	ENST00000271835	NM_016190.2	398	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1010.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTGTCTC	NONE	.	.	hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639	.	.	ENSP00000271835	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000271835	Transcript	.	.	ENSG00000143536	1230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRNN_HUMAN	CRNN	HGNC	.	.	UPI000006E106	SNV	CRNN,synonymous_variant,p.%3D,ENST00000271835,;RP1-91G5.3,intron_variant,,ENST00000411804,;	1257	51	72	SUCCESS
LENEP	55891	.	GRCh37	1	154966209	154966209	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	47	0	ENST00000368427.3:c.126C>A	p.Thr42=	p.T42=	ENST00000368427	NM_018655.2	42	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1080.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGACCCTGAA	NONE	.	.	Pfam_domain:PF15221,hmmpanther:PTHR16968	.	.	ENSP00000376278	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000392487	Transcript	.	.	ENSG00000163352	14429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LENEP_HUMAN	LENEP	HGNC	.	.	UPI000012E198	SNV	LENEP,synonymous_variant,p.%3D,ENST00000392487,;FLAD1,downstream_gene_variant,,ENST00000315144,;FLAD1,downstream_gene_variant,,ENST00000368433,;FLAD1,downstream_gene_variant,,ENST00000405236,;FLAD1,downstream_gene_variant,,ENST00000368432,;FLAD1,downstream_gene_variant,,ENST00000368431,;FLAD1,downstream_gene_variant,,ENST00000295530,;FLAD1,downstream_gene_variant,,ENST00000368428,;FLAD1,downstream_gene_variant,,ENST00000292180,;FLAD1,downstream_gene_variant,,ENST00000489992,;FLAD1,downstream_gene_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000481758,;LENEP,synonymous_variant,p.%3D,ENST00000368427,;	146	47	56	SUCCESS
DUSP27	0	.	GRCh37	1	167096126	167096126	+	synonymous_variant	Silent	SNP	G	G	C	rs144793075	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	63	0	ENST00000361200.2:c.1758G>C	p.Leu586=	p.L586=	ENST00000361200		586	ctG/ctC	0	T:0.0002	.	.	.	.	C	L	protein_coding	YES	CCDS30932.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGACAGC	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	T:0	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs144793075	6/6	nonpreferredpair	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,synonymous_variant,p.%3D,ENST00000361200,;DUSP27,synonymous_variant,p.%3D,ENST00000443333,;DUSP27,synonymous_variant,p.%3D,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1924	63	107	SUCCESS
MFAP2	4237	.	GRCh37	1	17303663	17303663	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	3	57	0	ENST00000375535.3:c.68T>C	p.Leu23Pro	p.L23P	ENST00000375535		23	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS174.1	68	MUTECT|MUSE	.	GGTCCAGGTCA	NONE	.	.	hmmpanther:PTHR16485,hmmpanther:PTHR16485:SF3,Pfam_domain:PF05507	.	.	ENSP00000364685	.	3/9	.	.	.	.	.	.	.	.	.	3/9	nonpreferredpair	ENST00000375535	Transcript	.	.	ENSG00000117122	7033	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.875)	.	deleterious_low_confidence(0.01)	.	MFAP2_HUMAN	MFAP2	HGNC	.	.	UPI000012F02C	SNV	MFAP2,missense_variant,p.Leu22Pro,ENST00000438542,;MFAP2,missense_variant,p.Leu22Pro,ENST00000375534,;MFAP2,missense_variant,p.Leu23Pro,ENST00000375535,;CROCC,downstream_gene_variant,,ENST00000375541,;RP1-37C10.3,upstream_gene_variant,,ENST00000446261,;MFAP2,non_coding_transcript_exon_variant,,ENST00000476788,;MFAP2,non_coding_transcript_exon_variant,,ENST00000478684,;MFAP2,non_coding_transcript_exon_variant,,ENST00000490075,;MFAP2,non_coding_transcript_exon_variant,,ENST00000492598,;	358	57	68	SUCCESS
RABGAP1L	9910	.	GRCh37	1	174769333	174769333	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	11	0	ENST00000251507.4:c.2212-11637A>G		p.*738*	ENST00000251507	NM_014857.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1314.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACATTAGC	NONE	.	.	.	.	.	ENSP00000251507	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000251507	Transcript	.	.	ENSG00000152061	24663	.	.	MODIFIER	18/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBG1L_HUMAN	RABGAP1L	HGNC	F1LJ00_HUMAN	.	UPI0000458A9F	SNV	RABGAP1L,5_prime_UTR_variant,,ENST00000489615,;RABGAP1L,intron_variant,,ENST00000325589,;RABGAP1L,intron_variant,,ENST00000251507,;RABGAP1L,intron_variant,,ENST00000347255,;RABGAP1L,intron_variant,,ENST00000367687,;RABGAP1L,intron_variant,,ENST00000367686,;RABGAP1L,intron_variant,,ENST00000469553,;	.	11	22	SUCCESS
CACNA1E	777	.	GRCh37	1	181701627	181701627	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374689888	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	53	121	1	ENST00000367573.2:c.2405C>A	p.Ala802Glu	p.A802E	ENST00000367573	NM_001205293.1	802	gCg/gAg	0	T:0.0006	T:0	.	T:0	.	A	A/E	protein_coding	YES	CCDS55664.1	2405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGCCGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	T:0	T:0	ENSP00000356545	T:0	20/48	.	.	.	.	.	.	.	.	rs374689888	20/48	nonpreferredpair	ENST00000367573	Transcript	.	T:0.0002	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.726)	T:0.001	tolerated(0.89)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ala734Glu,ENST00000358338,;CACNA1E,missense_variant,p.Ala409Glu,ENST00000367567,;CACNA1E,missense_variant,p.Ala753Glu,ENST00000357570,;CACNA1E,missense_variant,p.Ala783Glu,ENST00000360108,;CACNA1E,missense_variant,p.Ala783Glu,ENST00000526775,;CACNA1E,missense_variant,p.Ala802Glu,ENST00000367573,;CACNA1E,missense_variant,p.Ala802Glu,ENST00000367570,;	2405	122	173	SUCCESS
FAM43B	163933	.	GRCh37	1	20879387	20879387	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	rs933864098	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	35	0	ENST00000332947.4:c.-80T>A		p.*27*	ENST00000332947	NM_207334.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS209.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGCGCG	NONE	.	.	.	.	.	ENSP00000331397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000332947	Transcript	.	.	ENSG00000183114	31791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA43B_HUMAN	FAM43B	HGNC	.	.	UPI00001C0D42	SNV	FAM43B,5_prime_UTR_variant,,ENST00000332947,;	456	35	35	SUCCESS
HHAT	55733	.	GRCh37	1	210591627	210591627	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	43	93	0	ENST00000261458.3:c.814A>T	p.Ser272Cys	p.S272C	ENST00000261458	NM_018194.4	272	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS53471.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACAGCAGC	NONE	.	.	hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20,Pfam_domain:PF03062	.	.	ENSP00000438468	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000545154	Transcript	.	.	ENSG00000054392	18270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	HHAT_HUMAN	HHAT	HGNC	F5H2Y1_HUMAN,B1AK61_HUMAN	.	UPI0001C0B381	SNV	HHAT,missense_variant,p.Ser209Cys,ENST00000545781,;HHAT,missense_variant,p.Ser272Cys,ENST00000367010,;HHAT,missense_variant,p.Ser272Cys,ENST00000413764,;HHAT,missense_variant,p.Ser207Cys,ENST00000537898,;HHAT,missense_variant,p.Ser227Cys,ENST00000308852,;HHAT,missense_variant,p.Ser273Cys,ENST00000545154,;HHAT,missense_variant,p.Ser272Cys,ENST00000391905,;HHAT,missense_variant,p.Ser135Cys,ENST00000541565,;HHAT,missense_variant,p.Ser272Cys,ENST00000261458,;HHAT,missense_variant,p.Ser144Cys,ENST00000426968,;	922	93	173	SUCCESS
MORN1	79906	.	GRCh37	1	2283310	2283310	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	8	0	ENST00000378531.3:c.1036+5561G>A		p.*346*	ENST00000378531	NM_024848.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS40.1	.	MUTECT|MUSE	.	CGTTCCCCCAG	NONE	.	.	.	.	.	ENSP00000367792	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000378531	Transcript	.	.	ENSG00000116151	25852	.	.	MODIFIER	10/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MORN1_HUMAN	MORN1	HGNC	.	.	UPI000007293C	SNV	MORN1,intron_variant,,ENST00000378531,;MORN1,downstream_gene_variant,,ENST00000378529,;RP4-740C4.6,non_coding_transcript_exon_variant,,ENST00000602865,;MORN1,intron_variant,,ENST00000606372,;RP4-740C4.5,upstream_gene_variant,,ENST00000417061,;	.	8	9	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232539296	232539296	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766075456	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	57	0	ENST00000262861.4:c.4838G>T	p.Cys1613Phe	p.C1613F	ENST00000262861	NM_020808.3	1613	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS41474.1	4838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCAGAAG	NONE	.	.	Pfam_domain:PF11881,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	20/22	.	.	.	.	.	.	.	.	rs766075456	20/22	nonpreferredpair	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(1)	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,missense_variant,p.Cys1613Phe,ENST00000366630,;SIPA1L2,missense_variant,p.Cys669Phe,ENST00000308942,;SIPA1L2,missense_variant,p.Cys1613Phe,ENST00000262861,;SIPA1L2,non_coding_transcript_exon_variant,,ENST00000495863,;SIPA1L2,upstream_gene_variant,,ENST00000494056,;	5197	57	90	SUCCESS
ASAP3	55616	.	GRCh37	1	23759654	23759654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199574094	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	49	0	ENST00000336689.3:c.2239G>A	p.Glu747Lys	p.E747K	ENST00000336689	NM_017707.3	747	Gag/Aag	0	T:0	T:0	.	T:0	.	T	E/K	protein_coding	YES	CCDS235.1	2239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCGCCCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF211	T:0	T:0.0007	ENSP00000338769	T:0.001	22/25	.	.	.	.	.	.	.	.	rs199574094	22/25	nonpreferredpair	ENST00000336689	Transcript	.	T:0.0002	ENSG00000088280	14987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	T:0	tolerated(0.28)	.	ASAP3_HUMAN	ASAP3	HGNC	H0YER8_HUMAN	.	UPI0000071371	SNV	ASAP3,missense_variant,p.Glu74Lys,ENST00000465372,;ASAP3,missense_variant,p.Glu738Lys,ENST00000437606,;ASAP3,missense_variant,p.Glu747Lys,ENST00000336689,;ASAP3,missense_variant,p.Glu251Lys,ENST00000495646,;ASAP3,3_prime_UTR_variant,,ENST00000492982,;ASAP3,downstream_gene_variant,,ENST00000484418,;ASAP3,downstream_gene_variant,,ENST00000530874,;ASAP3,downstream_gene_variant,,ENST00000475814,;	2284	49	49	SUCCESS
FMN2	56776	.	GRCh37	1	240286488	240286488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	30	51	0	ENST00000319653.9:c.1625T>C	p.Leu542Pro	p.L542P	ENST00000319653	NM_020066.4	542	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31069.2	1625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCTGTTGG	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	2/18	.	.	.	.	.	.	.	.	.	2/18	nonpreferredpair	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Leu542Pro,ENST00000319653,;FMN2,5_prime_UTR_variant,,ENST00000447095,;	1855	51	119	SUCCESS
PLD5	200150	.	GRCh37	1	242264076	242264076	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	65	1	ENST00000442594.2:c.972T>C	p.Phe324=	p.F324=	ENST00000442594	NM_152666.2	324	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS1621.2	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCAAAAAA	NONE	.	.	hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Pfam_domain:PF13918,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000440896	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,synonymous_variant,p.%3D,ENST00000536534,;PLD5,synonymous_variant,p.%3D,ENST00000427495,;PLD5,synonymous_variant,p.%3D,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1490	66	115	SUCCESS
EFCAB2	84288	.	GRCh37	1	245250660	245250660	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	249	72	93	0	ENST00000366522.2:c.781+3670T>A		p.*261*	ENST00000366522		163		0	.	.	.	.	.	A	*/K	protein_coding	YES	CCDS31082.1	487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATTAAATG	NONE	.	.	.	.	.	ENSP00000355480	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000366523	Transcript	.	.	ENSG00000203666	28166	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB2_HUMAN	EFCAB2	HGNC	.	.	UPI000006E262	SNV	EFCAB2,stop_lost,p.Ter163LysextTer3,ENST00000366523,;EFCAB2,stop_lost,p.Ter222LysextTer3,ENST00000366521,;EFCAB2,intron_variant,,ENST00000447569,;EFCAB2,intron_variant,,ENST00000366522,;EFCAB2,downstream_gene_variant,,ENST00000551317,;EFCAB2,downstream_gene_variant,,ENST00000427529,;EFCAB2,downstream_gene_variant,,ENST00000425550,;EFCAB2,non_coding_transcript_exon_variant,,ENST00000473686,;EFCAB2,non_coding_transcript_exon_variant,,ENST00000495271,;EFCAB2,intron_variant,,ENST00000391837,;EFCAB2,intron_variant,,ENST00000487845,;EFCAB2,intron_variant,,ENST00000497591,;EFCAB2,downstream_gene_variant,,ENST00000549220,;	752	93	321	SUCCESS
ARID1A	8289	.	GRCh37	1	27102066	27102066	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	18	35	0	ENST00000324856.7:c.4994-2A>T		p.X1665_splice	ENST00000324856	NM_006015.4	1665		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAGGAAC	NONE	.	.	.	.	.	ENSP00000320485	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	18/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,splice_acceptor_variant,,ENST00000457599,;ARID1A,splice_acceptor_variant,,ENST00000374152,;ARID1A,splice_acceptor_variant,,ENST00000430799,;ARID1A,splice_acceptor_variant,,ENST00000540690,;ARID1A,splice_acceptor_variant,,ENST00000324856,;ARID1A,splice_acceptor_variant,,ENST00000466382,;ARID1A,splice_acceptor_variant,,ENST00000532781,;	.	35	26	SUCCESS
AHDC1	27245	.	GRCh37	1	27877505	27877505	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs749294057	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	23	0	ENST00000247087.5:c.1122del	p.Pro376LeufsTer76	p.P376Lfs*76	ENST00000247087		374	ccC/cc	0	-:0.0112	.	.	.	.	-	P/X	protein_coding	YES	CCDS30652.1	1122	VARSCANI*|PINDEL	.	AGGCCCGGGGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	-:0.0127	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	rs747020954,rs749294057	6/7	nonpreferredpair	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	deletion	AHDC1,frameshift_variant,p.Pro376LeufsTer76,ENST00000247087,;AHDC1,frameshift_variant,p.Pro376LeufsTer76,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	2091	23	32	SUCCESS
ZMYM4	9202	.	GRCh37	1	35884069	35884069	+	synonymous_variant	Silent	SNP	A	A	G	rs758242667	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	73	0	ENST00000314607.6:c.4335A>G	p.Lys1445=	p.K1445=	ENST00000314607	NM_005095.2	1445	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS389.1	4335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAACGAAA	NONE	.	.	Pfam_domain:PF12012,hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697	.	.	ENSP00000322915	.	29/30	.	.	.	.	.	.	.	.	rs758242667,COSM908686	29/30	nonpreferredpair	ENST00000314607	Transcript	.	.	ENSG00000146463	13055	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZMYM4_HUMAN	ZMYM4	HGNC	.	.	UPI0000203EE6	SNV	ZMYM4,synonymous_variant,p.%3D,ENST00000457946,;ZMYM4,synonymous_variant,p.%3D,ENST00000373297,;ZMYM4,synonymous_variant,p.%3D,ENST00000314607,;	4415	73	78	SUCCESS
CCDC27	148870	.	GRCh37	1	3686347	3686347	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	40	0	ENST00000294600.2:c.1744C>A	p.Leu582Ile	p.L582I	ENST00000294600	NM_152492.2	582	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS50.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCTCGAG	NONE	.	.	hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6	.	.	ENSP00000294600	.	11/12	.	.	.	.	.	.	.	.	.	11/12	nonpreferredpair	ENST00000294600	Transcript	.	.	ENSG00000162592	26546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	CCD27_HUMAN	CCDC27	HGNC	.	.	UPI000013E186	SNV	CCDC27,missense_variant,p.Leu582Ile,ENST00000294600,;SMIM1,upstream_gene_variant,,ENST00000444870,;SMIM1,upstream_gene_variant,,ENST00000561886,;SMIM1,upstream_gene_variant,,ENST00000452264,;CCDC27,splice_region_variant,,ENST00000462521,;	1828	40	68	SUCCESS
LEPRE1	0	.	GRCh37	1	43218272	43218272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	48	0	ENST00000296388.5:c.1409A>T	p.Gln470Leu	p.Q470L	ENST00000296388		470	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS57986.1	1409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCTGGGAA	NONE	.	.	SMART_domains:SM00702,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF5	.	.	ENSP00000236040	.	9/14	.	.	.	.	.	.	.	.	.	9/14	nonpreferredpair	ENST00000236040	Transcript	.	.	ENSG00000117385	19316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.132)	.	deleterious(0.05)	.	P3H1_HUMAN	LEPRE1	HGNC	B4DTG8_HUMAN	.	UPI000013E32E	SNV	LEPRE1,missense_variant,p.Gln62Leu,ENST00000447502,;LEPRE1,missense_variant,p.Gln470Leu,ENST00000397054,;LEPRE1,missense_variant,p.Gln470Leu,ENST00000236040,;LEPRE1,missense_variant,p.Gln470Leu,ENST00000296388,;LEPRE1,upstream_gene_variant,,ENST00000462474,;LEPRE1,missense_variant,p.Gln78Leu,ENST00000431412,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000481465,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000495874,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460031,;LEPRE1,upstream_gene_variant,,ENST00000460831,;LEPRE1,downstream_gene_variant,,ENST00000463465,;	1450	48	97	SUCCESS
KLHL17	339451	.	GRCh37	1	898282	898282	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748174855	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	28	0	ENST00000338591.3:c.1027G>A	p.Val343Met	p.V343M	ENST00000338591	NM_198317.2	343	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS30550.1	1027	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGTGCTT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF168,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612	.	.	ENSP00000343930	.	6/12	.	.	.	.	.	.	.	.	rs748174855	6/12	nonpreferredpair	ENST00000338591	Transcript	.	.	ENSG00000187961	24023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	tolerated(0.11)	.	KLH17_HUMAN	KLHL17	HGNC	Q0VGE6_HUMAN,B3KXL7_HUMAN	.	UPI00001DFBF0	SNV	KLHL17,missense_variant,p.Val343Met,ENST00000338591,;NOC2L,upstream_gene_variant,,ENST00000327044,;PLEKHN1,upstream_gene_variant,,ENST00000379409,;PLEKHN1,upstream_gene_variant,,ENST00000379407,;PLEKHN1,upstream_gene_variant,,ENST00000379410,;NOC2L,upstream_gene_variant,,ENST00000487214,;KLHL17,missense_variant,p.Val60Met,ENST00000466300,;KLHL17,downstream_gene_variant,,ENST00000463212,;NOC2L,upstream_gene_variant,,ENST00000469563,;NOC2L,upstream_gene_variant,,ENST00000477976,;KLHL17,upstream_gene_variant,,ENST00000481067,;	1134	28	25	SUCCESS
CST9L	128821	.	GRCh37	20	23548859	23548859	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1220011256	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	24	62	0	ENST00000376979.3:c.229T>C	p.Trp77Arg	p.W77R	ENST00000376979	NM_080610.2	77	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS13157.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGGAAT	NONE	.	.	hmmpanther:PTHR11413:SF22,hmmpanther:PTHR11413,Pfam_domain:PF00031,Gene3D:3.10.450.10,Superfamily_domains:SSF54403	.	.	ENSP00000366178	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	.	tolerated(0.33)	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,missense_variant,p.Trp77Arg,ENST00000376979,;	528	62	94	SUCCESS
BPIFA1	51297	.	GRCh37	20	31828158	31828158	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	63	0	ENST00000354297.4:c.551del	p.Pro184LeufsTer28	p.P184Lfs*28	ENST00000354297	NM_130852.2	183	tCc/tc	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS13217.1	548	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCATTCCCCTG	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Pfam_domain:PF01273,Superfamily_domains:SSF55394	.	.	ENSP00000346251	.	5/9	.	.	.	.	.	.	.	.	COSM3545418	5/9	nonpreferredpair	ENST00000354297	Transcript	.	.	ENSG00000198183	15749	3	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	BPIA1_HUMAN	BPIFA1	HGNC	A6XMV5_HUMAN	.	UPI0000048F11	deletion	BPIFA1,frameshift_variant,p.Pro184LeufsTer28,ENST00000375413,;BPIFA1,frameshift_variant,p.Pro184LeufsTer28,ENST00000375422,;BPIFA1,frameshift_variant,p.Pro184LeufsTer28,ENST00000354297,;AL121901.1,downstream_gene_variant,,ENST00000601172,;	619	63	87	SUCCESS
PTPRT	11122	.	GRCh37	20	40944529	40944529	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	55	103	0	ENST00000373198.4:c.1973T>A	p.Leu658His	p.L658H	ENST00000373198	NM_133170.3	658	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS42874.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCGAGGCTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	.	ENSP00000362283	.	12/31	.	.	.	.	.	.	.	.	.	12/31	nonpreferredpair	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	tolerated(0.28)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Leu658His,ENST00000373201,;PTPRT,missense_variant,p.Leu658His,ENST00000356100,;PTPRT,missense_variant,p.Leu658His,ENST00000373198,;PTPRT,missense_variant,p.Leu658His,ENST00000373193,;PTPRT,missense_variant,p.Leu658His,ENST00000373184,;PTPRT,missense_variant,p.Leu658His,ENST00000373190,;PTPRT,missense_variant,p.Leu658His,ENST00000373187,;	1973	103	162	SUCCESS
WFDC3	140686	.	GRCh37	20	44417609	44417609	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	37	0	ENST00000243938.4:c.172A>C	p.Thr58Pro	p.T58P	ENST00000243938	NM_080614.1	58	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS33478.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTGCAGC	BUFFER|p.K55E|c.163A>G|3	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256	.	.	ENSP00000243938	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0.02)	.	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,missense_variant,p.Thr58Pro,ENST00000243938,;WFDC3,missense_variant,p.Thr58Pro,ENST00000372632,;WFDC3,missense_variant,p.Thr52Pro,ENST00000337205,;WFDC3,intron_variant,,ENST00000372630,;DNTTIP1,upstream_gene_variant,,ENST00000372622,;DNTTIP1,upstream_gene_variant,,ENST00000415790,;DNTTIP1,upstream_gene_variant,,ENST00000456939,;DNTTIP1,upstream_gene_variant,,ENST00000449078,;DNTTIP1,upstream_gene_variant,,ENST00000435014,;WFDC3,non_coding_transcript_exon_variant,,ENST00000493693,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000467679,;WFDC3,non_coding_transcript_exon_variant,,ENST00000490877,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,intron_variant,,ENST00000462017,;WFDC3,intron_variant,,ENST00000471401,;WFDC3,non_coding_transcript_exon_variant,,ENST00000465935,;	256	37	84	SUCCESS
TUBB1	81027	.	GRCh37	20	57599165	57599165	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs753800012	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	23	44	0	ENST00000217133.1:c.683T>A	p.Leu228Gln	p.L228Q	ENST00000217133	NM_030773.3	228	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13475.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTAGTGT	BUFFER|p.L231L|c.693G>A|3	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF74,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	.	.	ENSP00000217133	.	4/4	.	.	.	.	.	.	.	.	rs753800012	4/4	nonpreferredpair	ENST00000217133	Transcript	1	.	ENSG00000101162	16257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	TBB1_HUMAN	TUBB1	HGNC	.	.	UPI0000071B14	SNV	TUBB1,missense_variant,p.Leu228Gln,ENST00000217133,;ATP5E,downstream_gene_variant,,ENST00000395663,;ATP5E,downstream_gene_variant,,ENST00000395659,;ATP5E,downstream_gene_variant,,ENST00000243997,;	952	44	93	SUCCESS
LINC00176	0	.	GRCh37	20	62670294	62670307	+	non_coding_transcript_exon_variant	RNA	DEL	GAGGCCCGCCCTCC	GAGGCCCGCCCTCC	-	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	GAGGCCCGCCCTCC	GAGGCCCGCCCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	18	39	35	0	ENST00000444463.1:n.4243_4256del		p.*1415*	ENST00000444463				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13548.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGGAGGAGGCCCGCCCTCCACGCG	NONE	.	.	.	.	.	ENSP00000393795	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000450537	Transcript	.	.	ENSG00000196700	29212	.	.	MODIFIER	1/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	Z512B_HUMAN	ZNF512B	HGNC	.	.	UPI000013A290	deletion	ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,upstream_gene_variant,,ENST00000217130,;LINC00176,non_coding_transcript_exon_variant,,ENST00000463337,;LINC00176,non_coding_transcript_exon_variant,,ENST00000431158,;LINC00176,non_coding_transcript_exon_variant,,ENST00000358393,;LINC00176,non_coding_transcript_exon_variant,,ENST00000444463,;	.	35	57	SUCCESS
MYT1	4661	.	GRCh37	20	62837052	62837052	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	61	0	ENST00000328439.1:c.296T>A	p.Val99Glu	p.V99E	ENST00000328439	NM_004535.2	99	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS13558.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTGAAGG	NONE	.	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	.	.	ENSP00000327465	.	6/23	.	.	.	.	.	.	.	.	.	6/23	nonpreferredpair	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,missense_variant,p.Val99Glu,ENST00000536311,;MYT1,missense_variant,p.Val99Glu,ENST00000360149,;MYT1,missense_variant,p.Val99Glu,ENST00000328439,;	660	61	94	SUCCESS
AIRE	326	.	GRCh37	21	45710937	45710937	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	30	58	0	ENST00000291582.5:c.880-41A>G		p.*294*	ENST00000291582	NM_000383.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13706.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCACCCCA	NONE	.	.	.	.	.	ENSP00000291582	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000291582	Transcript	.	.	ENSG00000160224	360	.	.	MODIFIER	7/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIRE_HUMAN	AIRE	HGNC	.	.	UPI0000030FA6	SNV	AIRE,missense_variant,p.His83Arg,ENST00000329347,;AIRE,missense_variant,p.His83Arg,ENST00000355347,;AIRE,intron_variant,,ENST00000291582,;AIRE,non_coding_transcript_exon_variant,,ENST00000337909,;AIRE,non_coding_transcript_exon_variant,,ENST00000397994,;AIRE,intron_variant,,ENST00000527919,;AIRE,intron_variant,,ENST00000530812,;	.	58	38	SUCCESS
C21orf58	54058	.	GRCh37	21	47722400	47722400	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	52	103	0	ENST00000291691.7:c.812A>T	p.Gln271Leu	p.Q271L	ENST00000291691	NM_058180.3	271	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13735.1	812	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTGCAGG	NONE	.	.	Pfam_domain:PF15248	.	.	ENSP00000291691	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000291691	Transcript	.	.	ENSG00000160298	1300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.803)	.	tolerated(0.25)	.	CU058_HUMAN	C21orf58	HGNC	H7C1T9_HUMAN	.	UPI0000231C71	SNV	C21orf58,missense_variant,p.Gln165Leu,ENST00000397679,;C21orf58,missense_variant,p.Gln233Leu,ENST00000417060,;C21orf58,missense_variant,p.Gln271Leu,ENST00000291691,;C21orf58,missense_variant,p.Gln165Leu,ENST00000397682,;C21orf58,missense_variant,p.Gln165Leu,ENST00000397680,;C21orf58,missense_variant,p.Gln165Leu,ENST00000397683,;YBEY,downstream_gene_variant,,ENST00000339195,;YBEY,downstream_gene_variant,,ENST00000397701,;YBEY,downstream_gene_variant,,ENST00000397692,;YBEY,downstream_gene_variant,,ENST00000397694,;YBEY,downstream_gene_variant,,ENST00000397691,;YBEY,downstream_gene_variant,,ENST00000329319,;C21orf58,splice_region_variant,,ENST00000472607,;C21orf58,missense_variant,p.Gln233Leu,ENST00000491666,;	1949	103	74	SUCCESS
DGCR5	26220	.	GRCh37	22	18981959	18981959	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	31	0	ENST00000438934.1:n.5310C>T		p.*1770*	ENST00000438934				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACGCCAGTG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000438934	Transcript	.	.	ENSG00000237517	16757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DGCR5	HGNC	.	.	.	SNV	DGCR5,non_coding_transcript_exon_variant,,ENST00000438934,;DGCR5,intron_variant,,ENST00000440005,;DGCR5,upstream_gene_variant,,ENST00000540720,;DGCR5,downstream_gene_variant,,ENST00000421572,;DGCR5,upstream_gene_variant,,ENST00000424407,;DGCR5,downstream_gene_variant,,ENST00000537283,;AC007326.9,downstream_gene_variant,,ENST00000604539,;	5310	31	20	SUCCESS
TCN2	6948	.	GRCh37	22	31006953	31006953	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs556464879	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	63	0	ENST00000215838.3:c.160A>G	p.Ile54Val	p.I54V	ENST00000215838		54	Atc/Gtc	0	.	T:0	.	T:0	.	G	I/V	protein_coding	YES	CCDS13881.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCATCTAT	NONE	by1000G	.	hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF14,Pfam_domain:PF01122	T:0	.	ENSP00000215838	T:0	2/9	.	.	.	.	.	.	.	.	rs556464879	2/9	nonpreferredpair	ENST00000215838	Transcript	.	T:0.0002	ENSG00000185339	11653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	T:0.001	tolerated(0.29)	.	TCO2_HUMAN	TCN2	HGNC	.	.	UPI0000167BDB	SNV	TCN2,missense_variant,p.Ile54Val,ENST00000215838,;TCN2,missense_variant,p.Ile54Val,ENST00000407817,;TCN2,missense_variant,p.Ile54Val,ENST00000423350,;TCN2,missense_variant,p.Ile54Val,ENST00000405742,;PES1,upstream_gene_variant,,ENST00000405677,;PES1,upstream_gene_variant,,ENST00000402281,;RP1-56J10.8,downstream_gene_variant,,ENST00000432130,;PES1,upstream_gene_variant,,ENST00000492986,;PES1,upstream_gene_variant,,ENST00000467368,;TCN2,3_prime_UTR_variant,,ENST00000450638,;TCN2,upstream_gene_variant,,ENST00000471659,;TCN2,upstream_gene_variant,,ENST00000493542,;	654	63	71	SUCCESS
MKL1	0	.	GRCh37	22	40859326	40859326	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	36	0	ENST00000355630.3:c.-59-36A>T		p.*20*	ENST00000355630	NM_020831.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14003.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGTCAGTT	NONE	.	.	.	.	.	ENSP00000347847	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000355630	Transcript	.	.	ENSG00000196588	14334	.	.	MODIFIER	3/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKL1_HUMAN	MKL1	HGNC	Q29R68_HUMAN	.	UPI000007311D	SNV	MKL1,5_prime_UTR_variant,,ENST00000402630,;MKL1,5_prime_UTR_variant,,ENST00000407029,;MKL1,intron_variant,,ENST00000402042,;MKL1,intron_variant,,ENST00000355630,;MKL1,intron_variant,,ENST00000396617,;MKL1,intron_variant,,ENST00000422851,;MKL1,intron_variant,,ENST00000463769,;	.	36	38	SUCCESS
TUBGCP6	85378	.	GRCh37	22	50682173	50682173	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1405343723	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	35	0	ENST00000248846.5:c.716C>T	p.Ala239Val	p.A239V	ENST00000248846		239	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS14087.1	716	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGCATTG	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32	.	.	ENSP00000248846	.	1/25	.	.	.	.	.	.	.	.	.	1/25	nonpreferredpair	ENST00000248846	Transcript	.	.	ENSG00000128159	18127	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	tolerated(0.22)	.	GCP6_HUMAN	TUBGCP6	HGNC	.	.	UPI000013CC55	SNV	TUBGCP6,missense_variant,p.Ala239Val,ENST00000248846,;TUBGCP6,missense_variant,p.Ala239Val,ENST00000439308,;HDAC10,downstream_gene_variant,,ENST00000349505,;HDAC10,downstream_gene_variant,,ENST00000216271,;HDAC10,downstream_gene_variant,,ENST00000448072,;TUBGCP6,upstream_gene_variant,,ENST00000434349,;HDAC10,downstream_gene_variant,,ENST00000498366,;HDAC10,downstream_gene_variant,,ENST00000483222,;HDAC10,downstream_gene_variant,,ENST00000496909,;MAPK12,downstream_gene_variant,,ENST00000497036,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;HDAC10,downstream_gene_variant,,ENST00000475965,;HDAC10,downstream_gene_variant,,ENST00000471375,;HDAC10,downstream_gene_variant,,ENST00000496235,;HDAC10,downstream_gene_variant,,ENST00000477814,;HDAC10,downstream_gene_variant,,ENST00000454936,;HDAC10,downstream_gene_variant,,ENST00000429374,;HDAC10,downstream_gene_variant,,ENST00000415993,;HDAC10,downstream_gene_variant,,ENST00000470378,;HDAC10,downstream_gene_variant,,ENST00000476310,;HDAC10,downstream_gene_variant,,ENST00000497952,;	821	35	28	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105890085	105890085	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	46	83	0	ENST00000258449.1:c.1728A>T	p.Pro576=	p.P576=	ENST00000258449	NM_001142621.1	576	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2067.1	1728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTCTGGATT	NONE	.	.	PROSITE_profiles:PS50236,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00637	.	.	ENSP00000377027	.	9/12	.	.	.	.	.	.	.	.	.	9/12	nonpreferredpair	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,synonymous_variant,p.%3D,ENST00000393359,;TGFBRAP1,synonymous_variant,p.%3D,ENST00000258449,;	2155	83	148	SUCCESS
MERTK	10461	.	GRCh37	2	112732991	112732991	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	102	1	ENST00000295408.4:c.1086G>T	p.Met362Ile	p.M362I	ENST00000295408		362	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS2094.1	1086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGAATGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000295408	.	7/19	.	.	.	.	.	.	.	.	.	7/19	nonpreferredpair	ENST00000295408	Transcript	.	.	ENSG00000153208	7027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.26)	.	MERTK_HUMAN	MERTK	HGNC	Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN	.	UPI000013E252	SNV	MERTK,missense_variant,p.Met362Ile,ENST00000295408,;MERTK,missense_variant,p.Met362Ile,ENST00000421804,;MERTK,missense_variant,p.Met186Ile,ENST00000409780,;MERTK,3_prime_UTR_variant,,ENST00000439966,;	1343	103	134	SUCCESS
ROCK2	9475	.	GRCh37	2	11337476	11337476	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	150	56	106	0	ENST00000315872.6:c.3280-2A>T		p.X1094_splice	ENST00000315872	NM_004850.3	1094		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTATAAG	NONE	.	.	.	.	.	ENSP00000317985	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000315872	Transcript	.	.	ENSG00000134318	10252	.	.	HIGH	26/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROCK2_HUMAN	ROCK2	HGNC	Q14DU5_HUMAN,E9PF63_HUMAN	.	UPI000034ECB0	SNV	ROCK2,splice_acceptor_variant,,ENST00000315872,;ROCK2,splice_acceptor_variant,,ENST00000401753,;ROCK2,upstream_gene_variant,,ENST00000493096,;ROCK2,upstream_gene_variant,,ENST00000460262,;	.	106	206	SUCCESS
DPP10	57628	.	GRCh37	2	116525912	116525912	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	43	108	0	ENST00000410059.1:c.1153T>A	p.Phe385Ile	p.F385I	ENST00000410059	NM_001178037.1	385	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS54388.1	1165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTTTATG	NONE	.	.	hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	.	.	ENSP00000376855	.	13/26	.	.	.	.	.	.	.	.	COSM1250632,COSM1250631	13/26	nonpreferredpair	ENST00000393147	Transcript	.	.	ENSG00000175497	20823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.932)	.	deleterious(0)	1,1	DPP10_HUMAN	DPP10	HGNC	J3KQK8_HUMAN,C9J4M8_HUMAN	.	UPI00015E0A22	SNV	DPP10,missense_variant,p.Phe389Ile,ENST00000393147,;DPP10,missense_variant,p.Phe335Ile,ENST00000409163,;DPP10,missense_variant,p.Phe378Ile,ENST00000310323,;DPP10,missense_variant,p.Phe385Ile,ENST00000410059,;	1520	108	146	SUCCESS
IWS1	55677	.	GRCh37	2	128249666	128249666	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	74	0	ENST00000295321.4:c.1930-2A>T		p.X644_splice	ENST00000295321	NM_017969.2	644		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2146.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCTGGGGA	NONE	.	.	.	.	.	ENSP00000295321	.	.	.	.	.	.	.	.	.	.	COSM4084685	.	nonpreferredpair	ENST00000295321	Transcript	.	.	ENSG00000163166	25467	.	.	HIGH	9/13	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IWS1_HUMAN	IWS1	HGNC	.	.	UPI000006EA82	SNV	IWS1,splice_acceptor_variant,,ENST00000295321,;IWS1,splice_acceptor_variant,,ENST00000455721,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,downstream_gene_variant,,ENST00000598065,;AC010976.2,downstream_gene_variant,,ENST00000595561,;AC010976.2,downstream_gene_variant,,ENST00000454503,;AC010976.2,downstream_gene_variant,,ENST00000596439,;	.	74	119	SUCCESS
LCT	3938	.	GRCh37	2	136567010	136567010	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	61	0	ENST00000264162.2:c.2907G>A	p.Leu969=	p.L969=	ENST00000264162	NM_002299.2	969	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2178.1	2907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCAAAGC	NONE	.	.	hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445	.	.	ENSP00000264162	.	8/17	.	.	.	.	.	.	.	.	.	8/17	nonpreferredpair	ENST00000264162	Transcript	.	.	ENSG00000115850	6530	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPH_HUMAN	LCT	HGNC	.	.	UPI000013D4D2	SNV	LCT,synonymous_variant,p.%3D,ENST00000264162,;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,synonymous_variant,p.%3D,ENST00000452974,;	2918	61	78	SUCCESS
PDE11A	50940	.	GRCh37	2	178494226	178494226	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	72	142	0	ENST00000286063.6:c.2711A>T	p.Lys904Met	p.K904M	ENST00000286063	NM_016953.3	904	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS33334.1	2711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTTACTT	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000286063	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	deleterious(0.01)	.	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,missense_variant,p.Lys654Met,ENST00000358450,;PDE11A,missense_variant,p.Lys95Met,ENST00000450799,;PDE11A,missense_variant,p.Lys904Met,ENST00000286063,;PDE11A,missense_variant,p.Lys460Met,ENST00000389683,;PDE11A,missense_variant,p.Lys107Met,ENST00000436700,;PDE11A,missense_variant,p.Lys546Met,ENST00000449286,;PDE11A,missense_variant,p.Lys546Met,ENST00000409504,;PDE11A,non_coding_transcript_exon_variant,,ENST00000488399,;PDE11A,non_coding_transcript_exon_variant,,ENST00000478646,;	3029	142	228	SUCCESS
TTN	7273	.	GRCh37	2	179641996	179641996	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1441856975	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	45	0	ENST00000591111.1:c.4694T>C	p.Val1565Ala	p.V1565A	ENST00000591111		1565	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS59435.1	4694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGACATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	27/363	.	.	.	.	.	.	.	.	.	27/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val1565Ala,ENST00000360870,;TTN,missense_variant,p.Val1519Ala,ENST00000359218,;TTN,missense_variant,p.Val1565Ala,ENST00000342992,;TTN,missense_variant,p.Val1519Ala,ENST00000342175,;TTN,missense_variant,p.Val1565Ala,ENST00000589042,;TTN,missense_variant,p.Val1565Ala,ENST00000591111,;TTN,missense_variant,p.Val1519Ala,ENST00000460472,;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	4919	45	92	SUCCESS
NCKAP1	10787	.	GRCh37	2	183866687	183866687	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	72	148	0	ENST00000361354.4:c.597T>C	p.His199=	p.H199=	ENST00000361354		199	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS2288.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTATGGGG	NONE	.	.	Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11	.	.	ENSP00000354251	.	7/32	.	.	.	.	.	.	.	.	.	7/32	nonpreferredpair	ENST00000360982	Transcript	.	.	ENSG00000061676	7666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKP1_HUMAN	NCKAP1	HGNC	.	.	UPI00001693F2	SNV	NCKAP1,synonymous_variant,p.%3D,ENST00000360982,;NCKAP1,synonymous_variant,p.%3D,ENST00000361354,;	1374	148	266	SUCCESS
ZDBF2	57683	.	GRCh37	2	207176232	207176232	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	69	188	0	ENST00000374423.3:c.6980A>T	p.Asp2327Val	p.D2327V	ENST00000374423	NM_020923.1	2327	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS46501.1	6980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGATCTGA	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.04)	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,missense_variant,p.Asp2327Val,ENST00000374423,;	7366	188	274	SUCCESS
UNC80	285175	.	GRCh37	2	210818961	210818961	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	56	0	ENST00000439458.1:c.7226A>G	p.Gln2409Arg	p.Q2409R	ENST00000439458	NM_032504.1	2409	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS46504.1	7226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	47/64	.	.	.	.	.	.	.	.	.	47/64	nonpreferredpair	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Gln2409Arg,ENST00000439458,;UNC80,missense_variant,p.Gln2404Arg,ENST00000272845,;UNC80,non_coding_transcript_exon_variant,,ENST00000481494,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	7306	56	109	SUCCESS
ATAD2B	54454	.	GRCh37	2	23980759	23980759	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs201429059	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	47	96	0	ENST00000238789.5:c.3607A>G	p.Met1203Val	p.M1203V	ENST00000238789	NM_001242338.1	1203	Atg/Gtg	0	C:0.0003	C:0	.	C:0	.	C	M/V	protein_coding	YES	CCDS46227.1	3607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATAGATA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069	C:0	C:0.0001	ENSP00000238789	C:0	25/28	.	.	.	.	.	.	.	.	rs201429059	25/28	nonpreferredpair	ENST00000238789	Transcript	.	C:0.0002	ENSG00000119778	29230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	C:0.001	tolerated(0.54)	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,missense_variant,p.Met1203Val,ENST00000238789,;ATAD2B,missense_variant,p.Met479Val,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;	3951	96	150	SUCCESS
ANKMY1	51281	.	GRCh37	2	241463387	241463387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	36	0	ENST00000272972.3:c.1480A>T	p.Ser494Cys	p.S494C	ENST00000272972	NM_016552.2	494	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2536.1	1480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCTGTGGG	NONE	.	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897	.	.	ENSP00000375847	.	8/18	.	.	.	.	.	.	.	.	.	8/18	nonpreferredpair	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0.01)	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,missense_variant,p.Ser353Cys,ENST00000405523,;ANKMY1,missense_variant,p.Ser494Cys,ENST00000391987,;ANKMY1,missense_variant,p.Ser353Cys,ENST00000361678,;ANKMY1,missense_variant,p.Ser264Cys,ENST00000405002,;ANKMY1,missense_variant,p.Ser264Cys,ENST00000373320,;ANKMY1,missense_variant,p.Ser432Cys,ENST00000403283,;ANKMY1,missense_variant,p.Ser583Cys,ENST00000401804,;ANKMY1,missense_variant,p.Ser494Cys,ENST00000272972,;ANKMY1,missense_variant,p.Ser306Cys,ENST00000536462,;ANKMY1,missense_variant,p.Ser353Cys,ENST00000373318,;ANKMY1,missense_variant,p.Ser255Cys,ENST00000406958,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;	1847	36	57	SUCCESS
AGXT	189	.	GRCh37	2	241813413	241813413	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs180177248	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	28	0	ENST00000307503.3:c.614C>T	p.Ser205Leu	p.S205L	ENST00000307503	NM_000030.2	205	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS2543.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTCGGGCT	NONE	byCluster	.	hmmpanther:PTHR21152:SF16,hmmpanther:PTHR21152,PROSITE_patterns:PS00595,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,Superfamily_domains:SSF53383	.	.	ENSP00000302620	.	6/11	.	.	.	.	.	.	.	.	CM093802,rs180177248,CM093803	6/11	nonpreferredpair	ENST00000307503	Transcript	.	.	ENSG00000172482	341	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,1	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SPYA_HUMAN	AGXT	HGNC	.	.	UPI0000135E9B	SNV	AGXT,missense_variant,p.Ser205Leu,ENST00000307503,;AGXT,intron_variant,,ENST00000476698,;AGXT,downstream_gene_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000470255,;	1001	28	42	SUCCESS
KCNK3	3777	.	GRCh37	2	26915803	26915803	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	32	0	ENST00000302909.3:c.60G>T	p.Leu20=	p.L20=	ENST00000302909	NM_002246.2	20	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1727.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGGTGGG	NONE	.	.	hmmpanther:PTHR11003:SF101,hmmpanther:PTHR11003,Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324,Prints_domain:PR01095	.	.	ENSP00000306275	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000302909	Transcript	.	.	ENSG00000171303	6278	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNK3_HUMAN	KCNK3	HGNC	B9EIJ4_HUMAN	.	UPI00000422B1	SNV	KCNK3,synonymous_variant,p.%3D,ENST00000302909,;	185	32	65	SUCCESS
DNAH6	1768	.	GRCh37	2	84832704	84832704	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	64	105	0	ENST00000237449.6:c.3162A>T	p.Thr1054=	p.T1054=	ENST00000237449		1054	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46348.1	3162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGATGA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	20/77	.	.	.	.	.	.	.	.	.	20/77	nonpreferredpair	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,synonymous_variant,p.%3D,ENST00000237449,;DNAH6,synonymous_variant,p.%3D,ENST00000398278,;DNAH6,synonymous_variant,p.%3D,ENST00000389394,;	3299	105	184	SUCCESS
IGKV3-15	28913	.	GRCh37	2	89384687	89384687	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	474	134	370	0	ENST00000390252.2:c.331T>A	p.Tyr111Asn	p.Y111N	ENST00000390252		111	Tat/Aat	0	.	.	.	.	.	T	Y/N	IG_V_gene	YES	.	331	RADIA|MUSE|VARSCANS	.	ATTATACTGCT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF118,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374787	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000390252	Transcript	.	.	ENSG00000244437	5816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	tolerated(0.15)	.	.	IGKV3-15	HGNC	.	.	UPI0000113B53	SNV	IGKV3-15,missense_variant,p.Tyr111Asn,ENST00000390252,;	428	370	608	SUCCESS
IGKV6-21	28906	.	GRCh37	2	89459329	89459329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	378	115	347	0	ENST00000390256.2:c.248G>A	p.Gly83Asp	p.G83D	ENST00000390256		83	gGc/gAc	0	.	.	.	.	.	T	G/D	IG_V_gene	YES	.	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGCCACTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF146,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374791	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000390256	Transcript	.	.	ENSG00000211611	5836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	.	IGKV6-21	HGNC	.	.	UPI0000113B3E	SNV	IGKV6-21,missense_variant,p.Gly83Asp,ENST00000390256,;	312	347	493	SUCCESS
VWA3B	200403	.	GRCh37	2	98779401	98779401	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755476386	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	43	0	ENST00000477737.1:c.1076C>T	p.Ala359Val	p.A359V	ENST00000477737	NM_144992.4	359	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42718.1	1076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGCCGAGC	NONE	byFrequency	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	8/28	.	.	.	.	.	.	.	.	rs755476386	8/28	nonpreferredpair	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,missense_variant,p.Ala209Val,ENST00000451075,;VWA3B,missense_variant,p.Ala359Val,ENST00000477737,;VWA3B,missense_variant,p.Ala359Val,ENST00000435344,;VWA3B,missense_variant,p.Ala359Val,ENST00000416277,;VWA3B,missense_variant,p.Ala359Val,ENST00000433678,;VWA3B,missense_variant,p.Pro264Ser,ENST00000448638,;VWA3B,3_prime_UTR_variant,,ENST00000422503,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	1280	43	57	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119120710	119120710	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758065077	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	55	90	0	ENST00000264245.4:c.1111G>A	p.Gly371Ser	p.G371S	ENST00000264245	NM_020754.2	371	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43135.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGGTGGA	NONE	.	.	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	10/12	.	.	.	.	.	.	.	.	rs758065077	10/12	nonpreferredpair	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.83)	.	tolerated(0.07)	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,missense_variant,p.Gly371Ser,ENST00000264245,;	1643	90	136	SUCCESS
GPR156	165829	.	GRCh37	3	119886209	119886209	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	43	0	ENST00000315843.3:c.2115C>G	p.Ala705=	p.A705=	ENST00000315843	NM_153002.2	705	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS2997.1	2115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGGCCCG	NONE	.	.	.	.	.	ENSP00000417261	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000464295	Transcript	.	.	ENSG00000175697	20844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP156_HUMAN	GPR156	HGNC	.	.	UPI000004731C	SNV	GPR156,synonymous_variant,p.%3D,ENST00000315843,;GPR156,synonymous_variant,p.%3D,ENST00000461057,;GPR156,synonymous_variant,p.%3D,ENST00000464295,;GPR156,3_prime_UTR_variant,,ENST00000495912,;	2561	43	45	SUCCESS
FBXO40	51725	.	GRCh37	3	121341447	121341447	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	47	97	0	ENST00000338040.4:c.1171C>G	p.Pro391Ala	p.P391A	ENST00000338040	NM_016298.3	391	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS33835.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCCCAAA	NONE	.	.	hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1	.	.	ENSP00000337510	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000338040	Transcript	.	.	ENSG00000163833	29816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	FBX40_HUMAN	FBXO40	HGNC	.	.	UPI000020A046	SNV	FBXO40,missense_variant,p.Pro391Ala,ENST00000338040,;	1585	97	107	SUCCESS
COL6A6	131873	.	GRCh37	3	130285713	130285713	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1559999816	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	72	0	ENST00000358511.6:c.1450T>A	p.Trp484Arg	p.W484R	ENST00000358511	NM_001102608.1	484	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS46911.1	1450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGGGAC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	4/36	.	.	.	.	.	.	.	.	.	4/36	nonpreferredpair	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	tolerated(0.35)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Trp484Arg,ENST00000453409,;COL6A6,missense_variant,p.Trp484Arg,ENST00000358511,;	1481	72	86	SUCCESS
ZFYVE20	0	.	GRCh37	3	15137554	15137554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	58	0	ENST00000253699.3:c.74C>A	p.Ser25Tyr	p.S25Y	ENST00000253699	NM_022340.2	25	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS2623.1	74	MUTECT|MUSE|VARSCANS	.	AGAAAGACTGC	NONE	.	.	PROSITE_patterns:PS00028,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510,PROSITE_profiles:PS50157	.	.	ENSP00000253699	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000253699	Transcript	.	.	ENSG00000131381	20759	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	RBNS5_HUMAN	ZFYVE20	HGNC	D6RD50_HUMAN	.	UPI0000051CE0	SNV	ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000253699,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000507357,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000449050,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000435849,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000476527,;ZFYVE20,non_coding_transcript_exon_variant,,ENST00000449964,;ZFYVE20,missense_variant,p.Ser25Tyr,ENST00000441057,;	688	58	60	SUCCESS
EAF1	85403	.	GRCh37	3	15475936	15475936	+	synonymous_variant	Silent	SNP	T	T	G	rs751742880	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	65	0	ENST00000396842.2:c.417T>G	p.Pro139=	p.P139=	ENST00000396842	NM_033083.6	139	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS2626.1	417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTCCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15970:SF8,hmmpanther:PTHR15970	.	.	ENSP00000380054	.	4/6	.	.	.	.	.	.	.	.	rs751742880	4/6	nonpreferredpair	ENST00000396842	Transcript	.	.	ENSG00000144597	20907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAF1_HUMAN	EAF1	HGNC	.	.	UPI000004B29F	SNV	EAF1,synonymous_variant,p.%3D,ENST00000396842,;EAF1,synonymous_variant,p.%3D,ENST00000432764,;METTL6,intron_variant,,ENST00000598878,;RNU6-1024P,upstream_gene_variant,,ENST00000384199,;EAF1-AS1,downstream_gene_variant,,ENST00000608780,;EAF1-AS1,downstream_gene_variant,,ENST00000596371,;EAF1-AS1,downstream_gene_variant,,ENST00000593876,;EAF1-AS1,downstream_gene_variant,,ENST00000595627,;EAF1-AS1,downstream_gene_variant,,ENST00000595975,;EAF1-AS1,downstream_gene_variant,,ENST00000597949,;EAF1-AS1,downstream_gene_variant,,ENST00000609310,;EAF1-AS1,downstream_gene_variant,,ENST00000594820,;EAF1-AS1,downstream_gene_variant,,ENST00000494875,;EAF1,3_prime_UTR_variant,,ENST00000449565,;	842	65	68	SUCCESS
ACAP2	23527	.	GRCh37	3	195013010	195013010	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	36	106	0	ENST00000326793.6:c.1937T>A	p.Ile646Asn	p.I646N	ENST00000326793	NM_012287.5	646	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS33924.1	1937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAATAAGT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000324287	.	19/23	.	.	.	.	.	.	.	.	.	19/23	nonpreferredpair	ENST00000326793	Transcript	.	.	ENSG00000114331	16469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	ACAP2_HUMAN	ACAP2	HGNC	C9J8L1_HUMAN	.	UPI0000141A1A	SNV	ACAP2,missense_variant,p.Ile646Asn,ENST00000326793,;ACAP2,downstream_gene_variant,,ENST00000450200,;ACAP2,downstream_gene_variant,,ENST00000484296,;ACAP2,upstream_gene_variant,,ENST00000466876,;ACAP2,downstream_gene_variant,,ENST00000475905,;	2168	106	104	SUCCESS
KAT2B	8850	.	GRCh37	3	20156480	20156480	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	77	0	ENST00000263754.4:c.1150G>T	p.Val384Phe	p.V384F	ENST00000263754	NM_003884.4	384	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS2634.1	1150	RADIA|SOMATICSNIPER|VARSCANS	.	AAACAGGTAAG	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,PIRSF_domain:PIRSF003048	.	.	ENSP00000263754	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.606)	.	tolerated(0.54)	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,missense_variant,p.Val384Phe,ENST00000263754,;KAT2B,splice_region_variant,,ENST00000469085,;	1605	77	81	SUCCESS
KAT2B	8850	.	GRCh37	3	20156481	20156481	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	77	0	ENST00000263754.4:c.1150+1G>T		p.X384_splice	ENST00000263754	NM_003884.4	384		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2634.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AACAGGTAAGT	NONE	.	.	.	.	.	ENSP00000263754	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	HIGH	7/17	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,splice_donor_variant,,ENST00000263754,;KAT2B,splice_donor_variant,,ENST00000469085,;	.	77	79	SUCCESS
KAT2B	8850	.	GRCh37	3	20156482	20156482	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	77	0	ENST00000263754.4:c.1150+2T>G		p.X384_splice	ENST00000263754	NM_003884.4	384		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2634.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTAAGTT	NONE	.	.	.	.	.	ENSP00000263754	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	HIGH	7/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,splice_donor_variant,,ENST00000263754,;KAT2B,splice_donor_variant,,ENST00000469085,;	.	77	74	SUCCESS
NEK10	152110	.	GRCh37	3	27216224	27216224	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	49	79	0	ENST00000429845.2:c.2606A>T	p.Gln869Leu	p.Q869L	ENST00000429845		869	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	.	.	2606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTGGAAG	NONE	.	.	hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77	.	.	ENSP00000395849	.	28/39	.	.	.	.	.	.	.	.	.	28/39	nonpreferredpair	ENST00000429845	Transcript	.	.	ENSG00000163491	18592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.389)	.	deleterious(0.02)	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI0000EE2A86	SNV	NEK10,missense_variant,p.Gln869Leu,ENST00000429845,;NEK10,missense_variant,p.Gln181Leu,ENST00000383771,;NEK10,missense_variant,p.Gln181Leu,ENST00000295720,;NEK10,missense_variant,p.Gln181Leu,ENST00000383770,;NEK10,missense_variant,p.Gln266Leu,ENST00000357467,;NEK10,non_coding_transcript_exon_variant,,ENST00000498182,;NEK10,non_coding_transcript_exon_variant,,ENST00000460447,;NEK10,non_coding_transcript_exon_variant,,ENST00000574215,;	2969	79	105	SUCCESS
DLEC1	9940	.	GRCh37	3	38158025	38158025	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs760972466	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	37	0	ENST00000308059.6:c.3938C>T	p.Pro1313Leu	p.P1313L	ENST00000308059		1313	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS2672.2	3938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCTTTCC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	.	ENSP00000308597	.	28/37	.	.	.	.	.	.	.	.	rs760972466	28/37	nonpreferredpair	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	deleterious(0.02)	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Pro1313Leu,ENST00000308059,;DLEC1,missense_variant,p.Pro1313Leu,ENST00000346219,;DLEC1,missense_variant,p.Pro1316Leu,ENST00000452631,;ACAA1,intron_variant,,ENST00000451419,;DLEC1,downstream_gene_variant,,ENST00000477260,;DLEC1,upstream_gene_variant,,ENST00000478428,;	3959	37	65	SUCCESS
SCAP	22937	.	GRCh37	3	47461017	47461017	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	83	0	ENST00000265565.5:c.1741C>A	p.Pro581Thr	p.P581T	ENST00000265565	NM_012235.2	581	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2755.2	1741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGGAAGA	NONE	.	.	hmmpanther:PTHR10796:SF53,hmmpanther:PTHR10796	.	.	ENSP00000265565	.	13/23	.	.	.	.	.	.	.	.	.	13/23	nonpreferredpair	ENST00000265565	Transcript	.	.	ENSG00000114650	30634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.06)	.	SCAP_HUMAN	SCAP	HGNC	D6RA39_HUMAN,C9JQ35_HUMAN	.	UPI0000135624	SNV	SCAP,missense_variant,p.Pro189Thr,ENST00000545718,;SCAP,missense_variant,p.Pro326Thr,ENST00000441517,;SCAP,missense_variant,p.Pro581Thr,ENST00000265565,;SCAP,downstream_gene_variant,,ENST00000468965,;SCAP,downstream_gene_variant,,ENST00000465628,;SCAP,3_prime_UTR_variant,,ENST00000320017,;SCAP,3_prime_UTR_variant,,ENST00000416208,;	2154	83	91	SUCCESS
PDZRN3	23024	.	GRCh37	3	73432795	73432795	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	44	0	ENST00000263666.4:c.2922C>A	p.Ser974Arg	p.S974R	ENST00000263666	NM_015009.1	974	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS33789.1	2922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGCTCCA	NONE	.	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545	.	.	ENSP00000263666	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Ser631Arg,ENST00000466780,;PDZRN3,missense_variant,p.Ser974Arg,ENST00000263666,;PDZRN3,missense_variant,p.Ser290Arg,ENST00000494559,;PDZRN3,missense_variant,p.Ser631Arg,ENST00000462146,;PDZRN3,missense_variant,p.Ser691Arg,ENST00000479530,;PDZRN3,missense_variant,p.Ser696Arg,ENST00000535920,;PDZRN3,downstream_gene_variant,,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000484487,;PDZRN3,downstream_gene_variant,,ENST00000478209,;	3037	44	40	SUCCESS
PDZRN3	23024	.	GRCh37	3	73673351	73673351	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	19	0	ENST00000263666.4:c.626T>G	p.Leu209Arg	p.L209R	ENST00000263666	NM_015009.1	209	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS33789.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TCTGCAGCTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Superfamily_domains:SSF49599	.	.	ENSP00000263666	.	1/10	.	.	.	.	.	.	.	.	.	1/10	nonpreferredpair	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.127)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Leu209Arg,ENST00000263666,;PDZRN3,missense_variant,p.Leu209Arg,ENST00000308537,;PDZRN3-AS1,intron_variant,,ENST00000608304,;PDZRN3-AS1,intron_variant,,ENST00000478988,;PDZRN3-AS1,intron_variant,,ENST00000608743,;	741	19	14	SUCCESS
OR5H1	26341	.	GRCh37	3	97851772	97851772	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	287	185	487	1	ENST00000354565.2:c.231G>T	p.Val77=	p.V77=	ENST00000354565	NM_001005338.1	77	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33797.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGACCCC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262	.	.	ENSP00000346575	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000354565	Transcript	.	.	ENSG00000231192	8346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5H1_HUMAN	OR5H1	HGNC	.	.	UPI0000197652	SNV	OR5H1,synonymous_variant,p.%3D,ENST00000354565,;RP11-343D2.11,intron_variant,,ENST00000508964,;	231	488	473	SUCCESS
RNF212	285498	.	GRCh37	4	1084625	1084625	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	57	0	ENST00000433731.2:c.248T>A	p.Ile83Asn	p.I83N	ENST00000433731		83	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS46996.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAAATCTGA	NONE	.	.	hmmpanther:PTHR22663,hmmpanther:PTHR22663:SF21	.	.	ENSP00000389709	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000433731	Transcript	1	.	ENSG00000178222	27729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	RN212_HUMAN	RNF212	HGNC	.	.	UPI00005764E4	SNV	RNF212,missense_variant,p.Ile83Asn,ENST00000382968,;RNF212,missense_variant,p.Ile83Asn,ENST00000433731,;RNF212,downstream_gene_variant,,ENST00000333673,;RNF212,missense_variant,p.Ile83Asn,ENST00000511620,;RNF212,splice_region_variant,,ENST00000512552,;RNF212,splice_region_variant,,ENST00000506730,;RNF212,splice_region_variant,,ENST00000508428,;RNF212,splice_region_variant,,ENST00000510715,;	310	57	81	SUCCESS
CFI	3426	.	GRCh37	4	110685711	110685711	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	21	0	ENST00000394634.2:c.464T>G	p.Leu155Arg	p.L155R	ENST00000394634	NM_000204.3	155	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS34049.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAAGGCAG	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF13,PROSITE_profiles:PS50287	.	.	ENSP00000378130	.	3/13	.	.	.	.	.	.	.	.	.	3/13	nonpreferredpair	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.54)	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,missense_variant,p.Leu155Arg,ENST00000394634,;CFI,missense_variant,p.Leu155Arg,ENST00000510800,;CFI,missense_variant,p.Leu155Arg,ENST00000512148,;CFI,missense_variant,p.Leu155Arg,ENST00000394635,;CFI,upstream_gene_variant,,ENST00000504853,;	672	21	59	SUCCESS
EGF	1950	.	GRCh37	4	110897334	110897334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	102	107	0	ENST00000265171.5:c.1996A>T	p.Ile666Phe	p.I666F	ENST00000265171	NM_001963.4	666	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS3689.1	1996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGATTGAA	NONE	.	.	Superfamily_domains:SSF63825,PIRSF_domain:PIRSF001778,SMART_domains:SM00135,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	.	.	ENSP00000265171	.	13/24	.	.	.	.	.	.	.	.	.	13/24	nonpreferredpair	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,missense_variant,p.Ile666Phe,ENST00000503392,;EGF,missense_variant,p.Ile666Phe,ENST00000265171,;EGF,missense_variant,p.Ile624Phe,ENST00000509793,;EGF,non_coding_transcript_exon_variant,,ENST00000541061,;EGF,upstream_gene_variant,,ENST00000509996,;EGF,upstream_gene_variant,,ENST00000511228,;EGF,downstream_gene_variant,,ENST00000502579,;	2441	107	168	SUCCESS
USP53	54532	.	GRCh37	4	120189490	120189490	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	439	180	383	0	ENST00000274030.6:c.1203G>A	p.Lys401=	p.K401=	ENST00000274030	NM_019050.2	401	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS43265.1	1203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCAGAG	NONE	.	.	hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF6	.	.	ENSP00000409906	.	10/15	.	.	.	.	.	.	.	.	.	10/15	nonpreferredpair	ENST00000450251	Transcript	.	.	ENSG00000145390	29255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP53_HUMAN	USP53	HGNC	.	.	UPI0000251D9D	SNV	USP53,synonymous_variant,p.%3D,ENST00000450251,;USP53,synonymous_variant,p.%3D,ENST00000274030,;USP53,3_prime_UTR_variant,,ENST00000507906,;USP53,3_prime_UTR_variant,,ENST00000509769,;USP53,non_coding_transcript_exon_variant,,ENST00000510852,;	1747	383	620	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121211	135121211	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756917832	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	62	168	0	ENST00000421491.3:c.964G>T	p.Val322Phe	p.V322F	ENST00000421491		322	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	.	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAACTCTGC	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252,PROSITE_profiles:PS50102	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	rs756917832	2/2	nonpreferredpair	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,missense_variant,p.Val322Phe,ENST00000421491,;PABPC4L,missense_variant,p.Val380Phe,ENST00000529122,;	1221	168	233	SUCCESS
TLL1	7092	.	GRCh37	4	166996136	166996136	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	16	86	0	ENST00000061240.2:c.2295T>A	p.Asn765Lys	p.N765K	ENST00000061240	NM_012464.4	765	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS3811.1	2295	MUTECT|MUSE|VARSCANS	.	GACAATAAACA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,PROSITE_patterns:PS01186,Pfam_domain:PF14670,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001199,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000061240	.	17/21	.	.	.	.	.	.	.	.	.	17/21	nonpreferredpair	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.656)	.	deleterious(0.02)	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,missense_variant,p.Asn765Lys,ENST00000061240,;TLL1,missense_variant,p.Asn788Lys,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2942	86	168	SUCCESS
HMGB2	3148	.	GRCh37	4	174253236	174253236	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	26	67	0	ENST00000296503.5:c.625G>A	p.Glu209Lys	p.E209K	ENST00000296503		209	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS3816.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTCTTCAT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF181	.	.	ENSP00000296503	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000296503	Transcript	.	.	ENSG00000164104	5000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	HMGB2_HUMAN	HMGB2	HGNC	Q5U071_HUMAN,D6R9A6_HUMAN	.	UPI000013E34D	SNV	HMGB2,missense_variant,p.Glu209Lys,ENST00000438704,;HMGB2,missense_variant,p.Glu209Lys,ENST00000296503,;HMGB2,missense_variant,p.Glu209Lys,ENST00000446922,;HMGB2,downstream_gene_variant,,ENST00000506267,;RP11-798M19.3,upstream_gene_variant,,ENST00000507803,;HMGB2,non_coding_transcript_exon_variant,,ENST00000511316,;	1499	67	130	SUCCESS
ZFP42	132625	.	GRCh37	4	188924650	188924650	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	38	38	0	ENST00000326866.4:c.689C>A	p.Ser230Ter	p.S230*	ENST00000326866	NM_174900.3	230	tCa/tAa	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS3849.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCAAAAC	BUFFER|p.F226F|c.678C>T|4,BUFFER|p.V227I|c.679G>A|4	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	COSM1650226,COSM586814	4/4	nonpreferredpair	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,stop_gained,p.Ser230Ter,ENST00000326866,;ZFP42,stop_gained,p.Ser230Ter,ENST00000509524,;	1097	38	64	SUCCESS
PCDH7	5099	.	GRCh37	4	30723268	30723268	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	47	0	ENST00000361762.2:c.224T>A	p.Leu75Gln	p.L75Q	ENST00000361762	NM_002589.2	75	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS54753.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCTGAAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	nonpreferredpair	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Leu75Gln,ENST00000543491,;PCDH7,missense_variant,p.Leu75Gln,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000511884,;PCDH7,upstream_gene_variant,,ENST00000507864,;	224	47	57	SUCCESS
EVC	2121	.	GRCh37	4	5733299	5733299	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144897690	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	82	135	0	ENST00000264956.6:c.532G>A	p.Val178Ile	p.V178I	ENST00000264956	NM_153717.2	178	Gtc/Atc	0	A:0.0073	A:0.0045	.	A:0.0014	.	A	V/I	protein_coding	YES	CCDS3383.1	532	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGTCCAC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16795:SF12,hmmpanther:PTHR16795	A:0	A:0.0002	ENSP00000372120	A:0	4/24	.	.	.	.	.	.	.	.	rs144897690	4/24	common_in_exac,nonpreferredpair	ENST00000382674	Transcript	1	A:0.0014	ENSG00000072840	3497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	A:0	tolerated(1)	.	EVC_HUMAN	EVC	HGNC	Q4W5F2_HUMAN,Q4W5A3_HUMAN	.	UPI000012A2A5	SNV	EVC,missense_variant,p.Val178Ile,ENST00000382674,;EVC,missense_variant,p.Val178Ile,ENST00000264956,;EVC,missense_variant,p.Val178Ile,ENST00000509451,;	716	135	226	SUCCESS
CABS1	85438	.	GRCh37	4	71200710	71200710	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	16	37	0	ENST00000273936.5:c.-47G>A		p.*16*	ENST00000273936	NM_033122.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3539.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGAGTCC	NONE	.	.	.	.	.	ENSP00000273936	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000273936	Transcript	.	.	ENSG00000145309	30710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABS1_HUMAN	CABS1	HGNC	.	.	UPI0000071735	SNV	CABS1,5_prime_UTR_variant,,ENST00000273936,;	28	37	23	SUCCESS
ABLIM2	84448	.	GRCh37	4	8031435	8031435	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	48	0	ENST00000341937.5:c.1116C>T	p.Ser372=	p.S372=	ENST00000341937	NM_001130084.1	372	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47014.1	1116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGCTAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24213:SF6,hmmpanther:PTHR24213	.	.	ENSP00000393511	.	11/21	.	.	.	.	.	.	.	.	.	11/21	nonpreferredpair	ENST00000447017	Transcript	.	.	ENSG00000163995	19195	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABLM2_HUMAN	ABLIM2	HGNC	Q4W5G4_HUMAN	.	UPI00017994EF	SNV	ABLIM2,synonymous_variant,p.%3D,ENST00000510277,;ABLIM2,synonymous_variant,p.%3D,ENST00000447017,;ABLIM2,synonymous_variant,p.%3D,ENST00000407564,;ABLIM2,synonymous_variant,p.%3D,ENST00000361581,;ABLIM2,synonymous_variant,p.%3D,ENST00000545242,;ABLIM2,synonymous_variant,p.%3D,ENST00000361737,;ABLIM2,synonymous_variant,p.%3D,ENST00000428004,;ABLIM2,synonymous_variant,p.%3D,ENST00000341937,;ABLIM2,synonymous_variant,p.%3D,ENST00000296372,;ABLIM2,synonymous_variant,p.%3D,ENST00000546334,;ABLIM2,synonymous_variant,p.%3D,ENST00000318888,;ABLIM2,synonymous_variant,p.%3D,ENST00000505872,;ABLIM2,synonymous_variant,p.%3D,ENST00000514025,;ABLIM2,non_coding_transcript_exon_variant,,ENST00000515079,;	1136	48	82	SUCCESS
GAK	2580	.	GRCh37	4	887684	887684	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs140104121	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	80	0	ENST00000314167.4:c.855C>A	p.Tyr285Ter	p.Y285*	ENST00000314167	NM_005255.2	285	taC/taA	0	A:0	.	.	.	.	T	Y/*	protein_coding	YES	CCDS3340.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTGTACTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	A:0.0009	ENSP00000314499	.	8/28	.	.	.	.	.	.	.	.	rs140104121	8/28	nonpreferredpair	ENST00000314167	Transcript	.	.	ENSG00000178950	4113	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAK_HUMAN	GAK	HGNC	Q59HA5_HUMAN,D6RF16_HUMAN,D6RC24_HUMAN	.	UPI000012B04A	SNV	GAK,stop_gained,p.Tyr206Ter,ENST00000511163,;GAK,stop_gained,p.Tyr285Ter,ENST00000314167,;GAK,downstream_gene_variant,,ENST00000502656,;GAK,3_prime_UTR_variant,,ENST00000505819,;GAK,non_coding_transcript_exon_variant,,ENST00000504435,;GAK,downstream_gene_variant,,ENST00000507580,;GAK,downstream_gene_variant,,ENST00000512325,;GAK,downstream_gene_variant,,ENST00000507991,;	966	80	106	SUCCESS
HERC6	55008	.	GRCh37	4	89329771	89329771	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	100	230	0	ENST00000264346.7:c.1368+2T>C		p.X456_splice	ENST00000264346	NM_017912.3	456		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47098.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTAATAG	NONE	.	.	.	.	.	ENSP00000264346	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000264346	Transcript	.	.	ENSG00000138642	26072	.	.	HIGH	11/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC6_HUMAN	HERC6	HGNC	B3KUG6_HUMAN	.	UPI00004C7A84	SNV	HERC6,splice_donor_variant,,ENST00000380265,;HERC6,splice_donor_variant,,ENST00000264346,;HERC6,downstream_gene_variant,,ENST00000515365,;	.	230	150	SUCCESS
SEMA6A	57556	.	GRCh37	5	115783094	115783094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	41	58	0	ENST00000343348.6:c.2308C>T	p.Pro770Ser	p.P770S	ENST00000343348	NM_020796.3	770	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47256.1	2308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCTTCC	NONE	.	.	hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036	.	.	ENSP00000345512	.	19/19	.	.	.	.	.	.	.	.	.	19/19	nonpreferredpair	ENST00000343348	Transcript	.	.	ENSG00000092421	10738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	SEM6A_HUMAN	SEMA6A	HGNC	D6RCR0_HUMAN,D6RAG9_HUMAN	.	UPI000020C463	SNV	SEMA6A,missense_variant,p.Pro770Ser,ENST00000510263,;SEMA6A,missense_variant,p.Pro285Ser,ENST00000515129,;SEMA6A,missense_variant,p.Pro787Ser,ENST00000257414,;SEMA6A,missense_variant,p.Pro197Ser,ENST00000513137,;SEMA6A,missense_variant,p.Pro247Ser,ENST00000282394,;SEMA6A,missense_variant,p.Pro149Ser,ENST00000503865,;SEMA6A,missense_variant,p.Pro770Ser,ENST00000343348,;CTB-118N6.3,upstream_gene_variant,,ENST00000512128,;CTB-118N6.3,upstream_gene_variant,,ENST00000510682,;CTB-118N6.3,upstream_gene_variant,,ENST00000514214,;CTB-118N6.3,upstream_gene_variant,,ENST00000508424,;CTB-118N6.3,upstream_gene_variant,,ENST00000508640,;SEMA6A,downstream_gene_variant,,ENST00000506114,;AC010296.1,upstream_gene_variant,,ENST00000542571,;	3096	58	75	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140740665	140740665	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	36	73	0	ENST00000522605.1:c.963A>C	p.Ala321=	p.A321=	ENST00000522605	NM_018923.2	321	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54924.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAAAAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,synonymous_variant,p.%3D,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	963	73	172	SUCCESS
PCDHGA8	9708	.	GRCh37	5	140773878	140773878	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	82	83	0	ENST00000398604.2:c.1498C>T	p.Pro500Ser	p.P500S	ENST00000398604	NM_032088.1	500	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47291.1	1498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGCCCCTG	CODON|p.A499V|c.1496C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381605	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000398604	Transcript	.	.	ENSG00000253767	8706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious_low_confidence(0.05)	.	PCDG8_HUMAN	PCDHGA8	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FC06	SNV	PCDHGA8,missense_variant,p.Pro500Ser,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;	1498	83	172	SUCCESS
HAVCR2	84868	.	GRCh37	5	156522415	156522415	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374018243	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	73	58	0	ENST00000307851.4:c.578G>T	p.Arg193Leu	p.R193L	ENST00000307851	NM_032782.4	193	cGg/cTg	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS4333.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCGTAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498	.	T:0.0002	ENSP00000312002	.	5/7	.	.	.	.	.	.	.	.	rs374018243	5/7	nonpreferredpair	ENST00000307851	Transcript	.	.	ENSG00000135077	18437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	HAVR2_HUMAN	HAVCR2	HGNC	E5RFR4_HUMAN	.	UPI000011AAFA	SNV	HAVCR2,missense_variant,p.Arg193Leu,ENST00000307851,;HAVCR2,missense_variant,p.Arg165Leu,ENST00000522593,;HAVCR2,downstream_gene_variant,,ENST00000524219,;HAVCR2,downstream_gene_variant,,ENST00000521665,;	1309	58	155	SUCCESS
FAM71B	153745	.	GRCh37	5	156590005	156590005	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	46	0	ENST00000302938.4:c.1271T>A	p.Val424Asp	p.V424D	ENST00000302938	NM_130899.2	424	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS4335.1	1271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGACTTCA	NONE	.	.	hmmpanther:PTHR22574:SF2,hmmpanther:PTHR22574	.	.	ENSP00000305596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000302938	Transcript	.	.	ENSG00000170613	28397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.22)	.	FA71B_HUMAN	FAM71B	HGNC	.	.	UPI000006F9DC	SNV	FAM71B,missense_variant,p.Val424Asp,ENST00000302938,;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	1367	46	90	SUCCESS
MYO10	4651	.	GRCh37	5	16682120	16682120	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	24	0	ENST00000513610.1:c.4049C>T	p.Pro1350Leu	p.P1350L	ENST00000513610	NM_012334.2	1350	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS54834.1	4049	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGGTCTG	NONE	.	.	Superfamily_domains:SSF50729,Gene3D:2.30.29.30	.	.	ENSP00000421280	.	31/41	.	.	.	.	.	.	.	.	.	31/41	nonpreferredpair	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	deleterious(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Pro1350Leu,ENST00000513610,;MYO10,missense_variant,p.Pro707Leu,ENST00000274203,;MYO10,missense_variant,p.Pro707Leu,ENST00000427430,;MYO10,missense_variant,p.Pro689Leu,ENST00000515803,;MYO10,missense_variant,p.Pro689Leu,ENST00000505695,;	4504	24	35	SUCCESS
KIAA1191	57179	.	GRCh37	5	175774922	175774922	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	40	77	0	ENST00000298569.4:c.709+2T>G		p.X237_splice	ENST00000298569	NM_020444.3	237		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4399.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTACCAGA	NONE	.	.	.	.	.	ENSP00000298569	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000298569	Transcript	.	.	ENSG00000122203	29209	.	.	HIGH	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P33MX_HUMAN	KIAA1191	HGNC	D6RF63_HUMAN,D6RCE3_HUMAN,D6RAJ7_HUMAN	.	UPI0000070560	SNV	KIAA1191,splice_donor_variant,,ENST00000393725,;KIAA1191,splice_donor_variant,,ENST00000510164,;KIAA1191,splice_donor_variant,,ENST00000298569,;KIAA1191,downstream_gene_variant,,ENST00000504688,;KIAA1191,downstream_gene_variant,,ENST00000506983,;SIMC1,downstream_gene_variant,,ENST00000443967,;KIAA1191,downstream_gene_variant,,ENST00000533553,;SIMC1,downstream_gene_variant,,ENST00000430704,;SIMC1,downstream_gene_variant,,ENST00000332772,;SIMC1,downstream_gene_variant,,ENST00000341199,;KIAA1191,downstream_gene_variant,,ENST00000503082,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,splice_donor_variant,,ENST00000393728,;	.	77	151	SUCCESS
TRIM52	84851	.	GRCh37	5	180684462	180684462	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	39	93	0	ENST00000327767.4:c.847C>A	p.Leu283Ile	p.L283I	ENST00000327767	NM_032765.2	283	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS4467.1	847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGTATTC	BUFFER|p.I282T|c.845T>C|3	.	.	hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103	.	.	ENSP00000332152	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000327767	Transcript	.	.	ENSG00000183718	19024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.55)	.	TRI52_HUMAN	TRIM52	HGNC	L0CQ38_HUMAN	.	UPI0000072D52	SNV	TRIM52,missense_variant,p.Leu283Ile,ENST00000327767,;AC008443.1,3_prime_UTR_variant,,ENST00000599439,;CTC-338M12.4,non_coding_transcript_exon_variant,,ENST00000505151,;CTC-338M12.4,non_coding_transcript_exon_variant,,ENST00000417281,;CTC-338M12.4,intron_variant,,ENST00000511331,;CTC-338M12.4,downstream_gene_variant,,ENST00000506340,;TRIM52-AS1,upstream_gene_variant,,ENST00000507434,;TRIM52-AS1,upstream_gene_variant,,ENST00000514146,;TRIM52-AS1,upstream_gene_variant,,ENST00000509252,;TRIM52,intron_variant,,ENST00000510796,;TRIM52,intron_variant,,ENST00000503005,;TRIM52,intron_variant,,ENST00000513146,;TRIM52,downstream_gene_variant,,ENST00000514805,;	1152	93	207	SUCCESS
GPR98	0	.	GRCh37	5	89925133	89925133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	137	114	0	ENST00000405460.2:c.1616T>C	p.Leu539Ser	p.L539S	ENST00000405460	NM_032119.3	539	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS47246.1	1616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTGAGTT	NONE	.	.	Superfamily_domains:SSF141072,Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	9/90	.	.	.	.	.	.	.	.	.	9/90	nonpreferredpair	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.86)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Leu539Ser,ENST00000405460,;GPR98,missense_variant,p.Leu128Ser,ENST00000504142,;	1712	114	288	SUCCESS
PRDM1	639	.	GRCh37	6	106553643	106553643	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	45	103	1	ENST00000369096.4:c.1608A>T	p.Ala536=	p.A536=	ENST00000369096	NM_001198.3	536	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5054.2	1608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCAGCGAT	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,PIRSF_domain:PIRSF013212	.	.	ENSP00000358092	.	5/7	.	.	.	.	.	.	.	.	.	5/7	nonpreferredpair	ENST00000369096	Transcript	.	.	ENSG00000057657	9346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM1_HUMAN	PRDM1	HGNC	Q5T4E8_HUMAN,B2REA5_HUMAN	.	UPI0000D49069	SNV	PRDM1,synonymous_variant,p.%3D,ENST00000369096,;PRDM1,synonymous_variant,p.%3D,ENST00000369091,;PRDM1,synonymous_variant,p.%3D,ENST00000369089,;PRDM1,downstream_gene_variant,,ENST00000450060,;	1842	104	115	SUCCESS
REV3L	5980	.	GRCh37	6	111688372	111688372	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	93	1	ENST00000358835.3:c.6619A>T	p.Arg2207Ter	p.R2207*	ENST00000358835		2207	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5091.2	6619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTCTGTA	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	15/33	.	.	.	.	.	.	.	.	.	15/33	nonpreferredpair	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,stop_gained,p.Arg2129Ter,ENST00000435970,;REV3L,stop_gained,p.Arg2207Ter,ENST00000358835,;REV3L,stop_gained,p.Arg2207Ter,ENST00000368802,;REV3L,stop_gained,p.Arg2207Ter,ENST00000368805,;REV3L,stop_gained,p.Arg64Ter,ENST00000413831,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	7074	94	76	SUCCESS
REV3L	5980	.	GRCh37	6	111693804	111693804	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	57	0	ENST00000358835.3:c.5754G>A	p.Lys1918=	p.K1918=	ENST00000358835		1918	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5091.2	5754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCTTTTC	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	.	14/33	nonpreferredpair	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,synonymous_variant,p.%3D,ENST00000435970,;REV3L,synonymous_variant,p.%3D,ENST00000358835,;REV3L,synonymous_variant,p.%3D,ENST00000368802,;REV3L,synonymous_variant,p.%3D,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	6209	57	68	SUCCESS
ROS1	6098	.	GRCh37	6	117686251	117686251	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	86	0	ENST00000368508.3:c.3090A>T	p.Thr1030=	p.T1030=	ENST00000368508	NM_002944.2	1030	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5116.1	3090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGTTTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000357494	.	20/43	.	.	.	.	.	.	.	.	.	20/43	nonpreferredpair	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,synonymous_variant,p.%3D,ENST00000368507,;ROS1,synonymous_variant,p.%3D,ENST00000368508,;GOPC,intron_variant,,ENST00000467125,;	3289	86	91	SUCCESS
ROS1	6098	.	GRCh37	6	117746858	117746858	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	55	0	ENST00000368508.3:c.-39A>T		p.*13*	ENST00000368508	NM_002944.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5116.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAATTTTCT	NONE	.	.	.	.	.	ENSP00000357494	.	1/43	.	.	.	.	.	.	.	.	.	1/43	nonpreferredpair	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,5_prime_UTR_variant,,ENST00000368507,;ROS1,5_prime_UTR_variant,,ENST00000368508,;GOPC,intron_variant,,ENST00000467125,;	161	55	64	SUCCESS
MED23	9439	.	GRCh37	6	131910712	131910712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	47	117	0	ENST00000368068.3:c.3832C>A	p.Leu1278Met	p.L1278M	ENST00000368068	NM_004830.3	1278	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS5147.1	3832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCATGT	NONE	.	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	28/29	.	.	.	.	.	.	.	.	.	28/29	nonpreferredpair	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,missense_variant,p.Leu919Met,ENST00000545957,;MED23,missense_variant,p.Leu1278Met,ENST00000368068,;MED23,missense_variant,p.Leu1284Met,ENST00000354577,;MED23,missense_variant,p.Leu1284Met,ENST00000403834,;MED23,missense_variant,p.Leu1278Met,ENST00000368060,;MED23,missense_variant,p.Leu1284Met,ENST00000368058,;MED23,non_coding_transcript_exon_variant,,ENST00000479213,;MED23,downstream_gene_variant,,ENST00000484885,;	4012	117	131	SUCCESS
AHI1	54806	.	GRCh37	6	135715921	135715921	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	76	0	ENST00000265602.6:c.3102T>G	p.Thr1034=	p.T1034=	ENST00000265602	NM_001134831.1	1034	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS47483.1	3102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGAGTGAA	NONE	.	.	hmmpanther:PTHR22847:SF50,hmmpanther:PTHR22847	.	.	ENSP00000356774	.	21/27	.	.	.	.	.	.	.	.	.	21/27	nonpreferredpair	ENST00000367800	Transcript	.	.	ENSG00000135541	21575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHI1_HUMAN	AHI1	HGNC	.	.	UPI00000701FB	SNV	AHI1,synonymous_variant,p.%3D,ENST00000265602,;AHI1,synonymous_variant,p.%3D,ENST00000457866,;AHI1,synonymous_variant,p.%3D,ENST00000529865,;AHI1,synonymous_variant,p.%3D,ENST00000327035,;AHI1,synonymous_variant,p.%3D,ENST00000367799,;AHI1,synonymous_variant,p.%3D,ENST00000367800,;AHI1,synonymous_variant,p.%3D,ENST00000417892,;AHI1,synonymous_variant,p.%3D,ENST00000475846,;AHI1,3_prime_UTR_variant,,ENST00000531788,;	3319	76	103	SUCCESS
SCAF8	22828	.	GRCh37	6	155145419	155145419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	49	0	ENST00000367178.3:c.1978C>A	p.Pro660Thr	p.P660T	ENST00000367178	NM_014892.3	660	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS5247.1	1978	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCCTGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124	.	.	ENSP00000356146	.	17/20	.	.	.	.	.	.	.	.	.	17/20	nonpreferredpair	ENST00000367178	Transcript	.	.	ENSG00000213079	20959	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SCAF8_HUMAN	SCAF8	HGNC	Q9H8B2_HUMAN,Q8NDE9_HUMAN	.	UPI0000070A1C	SNV	SCAF8,missense_variant,p.Pro726Thr,ENST00000367186,;SCAF8,missense_variant,p.Pro660Thr,ENST00000367178,;SCAF8,missense_variant,p.Pro660Thr,ENST00000417268,;RNU6-824P,downstream_gene_variant,,ENST00000363724,;SCAF8,intron_variant,,ENST00000479234,;	2554	49	72	SUCCESS
RPS6KA2	6196	.	GRCh37	6	166862319	166862319	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	41	0	ENST00000265678.4:c.1225A>T	p.Ile409Phe	p.I409F	ENST00000265678	NM_021135.4	409	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS34570.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGATGTTGT	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25	.	.	ENSP00000427015	.	15/22	.	.	.	.	.	.	.	.	COSM326397,COSM326398	15/22	nonpreferredpair	ENST00000503859	Transcript	.	.	ENSG00000071242	10431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.019)	.	tolerated(0.72)	1,1	KS6A2_HUMAN	RPS6KA2	HGNC	D6RHW7_HUMAN,D6RD75_HUMAN,D6R910_HUMAN,B7Z3B5_HUMAN	.	UPI000020D48C	SNV	RPS6KA2,missense_variant,p.Ile320Phe,ENST00000481261,;RPS6KA2,missense_variant,p.Ile320Phe,ENST00000405189,;RPS6KA2,missense_variant,p.Ile409Phe,ENST00000265678,;RPS6KA2,missense_variant,p.Ile417Phe,ENST00000503859,;RPS6KA2,missense_variant,p.Ile434Phe,ENST00000510118,;RPS6KA2,non_coding_transcript_exon_variant,,ENST00000491836,;	1630	41	44	SUCCESS
THBS2	7058	.	GRCh37	6	169639734	169639734	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	56	0	ENST00000366787.3:c.1089A>G	p.Pro363=	p.P363=	ENST00000366787	NM_003247.2	363	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34574.1	1089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATGGACT	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000355751	.	8/23	.	.	.	.	.	.	.	.	.	8/23	nonpreferredpair	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,synonymous_variant,p.%3D,ENST00000366787,;XXyac-YX65C7_A.2,downstream_gene_variant,,ENST00000444188,;THBS2,upstream_gene_variant,,ENST00000461848,;	1339	56	37	SUCCESS
SLC17A3	10786	.	GRCh37	6	25850686	25850686	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs773136308	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	39	86	0	ENST00000360657.3:c.759+1G>A		p.X253_splice	ENST00000360657		253		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47385.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACGTCTC	NONE	byFrequency	.	.	.	.	ENSP00000380250	.	.	.	.	.	.	.	.	.	.	rs773136308	.	nonpreferredpair	ENST00000397060	Transcript	.	.	ENSG00000124564	10931	.	.	HIGH	8/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT4_HUMAN	SLC17A3	HGNC	H0Y9F7_HUMAN	.	UPI0001536779	SNV	SLC17A3,splice_donor_variant,,ENST00000360657,;SLC17A3,splice_donor_variant,,ENST00000397060,;SLC17A3,splice_donor_variant,,ENST00000361703,;SLC17A3,upstream_gene_variant,,ENST00000505420,;SLC17A3,upstream_gene_variant,,ENST00000481949,;SLC17A3,3_prime_UTR_variant,,ENST00000506105,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000503922,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000509714,;SLC17A3,downstream_gene_variant,,ENST00000308453,;SLC17A3,downstream_gene_variant,,ENST00000449356,;	.	86	149	SUCCESS
HIST1H2BE	0	.	GRCh37	6	26184113	26184113	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	39	109	0	ENST00000356530.3:c.90C>G	p.Arg30=	p.R30=	ENST00000356530	NM_003523.2	30	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS4588.1	90	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGCAAGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113	.	.	ENSP00000348924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000356530	Transcript	.	.	ENSG00000197697	4753	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BE	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BE,synonymous_variant,p.%3D,ENST00000356530,;HIST1H4D,downstream_gene_variant,,ENST00000340756,;	156	109	151	SUCCESS
FANCE	2178	.	GRCh37	6	35428340	35428340	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	54	0	ENST00000229769.2:c.1328A>G	p.Glu443Gly	p.E443G	ENST00000229769	NM_021922.2	443	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4805.1	1328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGAGCTGC	NONE	.	.	hmmpanther:PTHR32094,Pfam_domain:PF11510	.	.	ENSP00000229769	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000229769	Transcript	.	.	ENSG00000112039	3586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.479)	.	deleterious(0)	.	FANCE_HUMAN	FANCE	HGNC	.	.	UPI000000DB76	SNV	FANCE,missense_variant,p.Glu443Gly,ENST00000229769,;	1513	54	99	SUCCESS
MDGA1	266727	.	GRCh37	6	37611713	37611713	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	18	38	0	ENST00000434837.3:c.2408A>G	p.Tyr803Cys	p.Y803C	ENST00000434837	NM_153487.3	803	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47417.1	2408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTAGTAG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50060	.	.	ENSP00000402584	.	14/17	.	.	.	.	.	.	.	.	.	14/17	nonpreferredpair	ENST00000434837	Transcript	.	.	ENSG00000112139	19267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MDGA1_HUMAN	MDGA1	HGNC	D6RHU8_HUMAN,D6RFG6_HUMAN	.	UPI0000071D28	SNV	MDGA1,missense_variant,p.Tyr113Cys,ENST00000418178,;MDGA1,missense_variant,p.Tyr803Cys,ENST00000505425,;MDGA1,missense_variant,p.Tyr807Cys,ENST00000297153,;MDGA1,missense_variant,p.Tyr803Cys,ENST00000434837,;MDGA1,downstream_gene_variant,,ENST00000510077,;MDGA1,upstream_gene_variant,,ENST00000503419,;MDGA1,3_prime_UTR_variant,,ENST00000502298,;MDGA1,upstream_gene_variant,,ENST00000373401,;	3587	38	73	SUCCESS
KIF6	221458	.	GRCh37	6	39311593	39311593	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	44	0	ENST00000287152.7:c.2322-2A>T		p.X774_splice	ENST00000287152	NM_145027.4	774		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4844.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCTGGAGG	NONE	.	.	.	.	.	ENSP00000287152	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000287152	Transcript	.	.	ENSG00000164627	21202	.	.	HIGH	21/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF6_HUMAN	KIF6	HGNC	.	.	UPI0000457436	SNV	KIF6,splice_acceptor_variant,,ENST00000394362,;KIF6,splice_acceptor_variant,,ENST00000287152,;KIF6,splice_acceptor_variant,,ENST00000373213,;KIF6,splice_acceptor_variant,,ENST00000373215,;KIF6,splice_acceptor_variant,,ENST00000373216,;KIF6,splice_acceptor_variant,,ENST00000229913,;KIF6,splice_acceptor_variant,,ENST00000541946,;KIF6,splice_acceptor_variant,,ENST00000458470,;KIF6,splice_acceptor_variant,,ENST00000538893,;	.	44	70	SUCCESS
TRERF1	55809	.	GRCh37	6	42200563	42200563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	39	0	ENST00000372922.4:c.3134A>G	p.Lys1045Arg	p.K1045R	ENST00000372922	NM_033502.2	1045	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS4867.1	3134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTTGGTC	NONE	.	.	hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	17/18	.	.	.	.	.	.	.	.	.	17/18	nonpreferredpair	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.03)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Lys1065Arg,ENST00000541110,;TRERF1,missense_variant,p.Lys974Arg,ENST00000340840,;TRERF1,missense_variant,p.Lys1045Arg,ENST00000372922,;TRERF1,missense_variant,p.Lys974Arg,ENST00000372917,;TRERF1,missense_variant,p.Lys962Arg,ENST00000354325,;	3697	39	49	SUCCESS
PTCHD4	442213	.	GRCh37	6	47846685	47846685	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	38	0	ENST00000339488.4:c.1895T>A	p.Leu632Gln	p.L632Q	ENST00000339488	NM_001013732.3	632	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS34473.2	1895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATAGGGGC	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866	.	.	ENSP00000341914	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000339488	Transcript	.	.	ENSG00000244694	21345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PTHD4_HUMAN	PTCHD4	HGNC	B2RPC0_HUMAN	.	UPI000179A8D3	SNV	PTCHD4,missense_variant,p.Leu632Gln,ENST00000339488,;	1929	38	51	SUCCESS
PKHD1	5314	.	GRCh37	6	51923279	51923279	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs201989004	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	66	0	ENST00000371117.3:c.1354T>A	p.Tyr452Asn	p.Y452N	ENST00000371117	NM_138694.3	452	Tac/Aac	0	.	G:0	.	G:0.0014	.	T	Y/N	protein_coding	YES	CCDS4935.1	1354	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTACATGG	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000360158	G:0	16/67	.	.	.	.	.	.	.	.	rs201989004	16/67	nonpreferredpair	ENST00000371117	Transcript	.	G:0.0002	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	G:0	deleterious(0)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Tyr452Asn,ENST00000340994,;PKHD1,missense_variant,p.Tyr452Asn,ENST00000371117,;AL590391.1,downstream_gene_variant,,ENST00000408630,;	1630	66	99	SUCCESS
COL9A1	1297	.	GRCh37	6	70981793	70981793	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	254	104	222	1	ENST00000357250.6:c.1066-2A>T		p.X356_splice	ENST00000357250	NM_001851.4	356		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4971.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTAAAAG	NONE	.	.	.	.	.	ENSP00000349790	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	HIGH	12/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,splice_acceptor_variant,,ENST00000320755,;COL9A1,splice_acceptor_variant,,ENST00000357250,;COL9A1,intron_variant,,ENST00000370499,;COL9A1,splice_acceptor_variant,,ENST00000489611,;COL9A1,downstream_gene_variant,,ENST00000470652,;	.	223	358	SUCCESS
B3GAT2	135152	.	GRCh37	6	71665601	71665601	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778874580	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	73	0	ENST00000230053.6:c.532C>A	p.Pro178Thr	p.P178T	ENST00000230053	NM_080742.2	178	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS4974.1	532	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGGCTGCG	NONE	byFrequency	.	hmmpanther:PTHR10896:SF8,hmmpanther:PTHR10896,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448	.	.	ENSP00000230053	.	1/4	.	.	.	.	.	.	.	.	rs778874580	1/4	nonpreferredpair	ENST00000230053	Transcript	.	.	ENSG00000112309	922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.06)	.	B3GA2_HUMAN	B3GAT2	HGNC	A8K1V3_HUMAN	.	UPI000012670C	SNV	B3GAT2,missense_variant,p.Pro178Thr,ENST00000230053,;	1141	73	117	SUCCESS
PHIP	55023	.	GRCh37	6	79688417	79688417	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	73	0	ENST00000275034.4:c.2781G>C	p.Val927=	p.V927=	ENST00000275034	NM_017934.5	927	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS4987.1	2781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCCACAGC	NONE	.	.	hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	.	.	ENSP00000275034	.	24/40	.	.	.	.	.	.	.	.	.	24/40	nonpreferredpair	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,synonymous_variant,p.%3D,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	2949	73	89	SUCCESS
MDN1	23195	.	GRCh37	6	90388402	90388402	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764180409	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	104	1	ENST00000369393.3:c.12328G>A	p.Glu4110Lys	p.E4110K	ENST00000369393		4110	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS5024.1	12328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCCTTCT	NONE	byFrequency	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	75/102	.	.	.	.	.	.	.	.	rs764180409	75/102	nonpreferredpair	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.656)	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Glu4110Lys,ENST00000369393,;MDN1,missense_variant,p.Glu4110Lys,ENST00000428876,;RP1-122O8.7,downstream_gene_variant,,ENST00000438877,;	12444	105	100	SUCCESS
KLHL32	114792	.	GRCh37	6	97512550	97512550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	59	0	ENST00000369261.4:c.359G>T	p.Ser120Ile	p.S120I	ENST00000369261	NM_052904.3	120	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS5038.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGTCACC	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	5/11	.	.	.	.	.	.	.	.	.	5/11	nonpreferredpair	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,missense_variant,p.Ser16Ile,ENST00000447886,;KLHL32,missense_variant,p.Ser120Ile,ENST00000369254,;KLHL32,missense_variant,p.Ser84Ile,ENST00000536676,;KLHL32,missense_variant,p.Ser120Ile,ENST00000369261,;KLHL32,5_prime_UTR_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000539200,;	722	59	85	SUCCESS
FBXL4	26235	.	GRCh37	6	99374696	99374696	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	38	70	0	ENST00000229971.1:c.169G>T	p.Glu57Ter	p.E57*	ENST00000229971	NM_012160.4	57	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5041.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCTTTGG	NONE	.	.	hmmpanther:PTHR23125:SF244,hmmpanther:PTHR23125	.	.	ENSP00000358247	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000369244	Transcript	.	.	ENSG00000112234	13601	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL4_HUMAN	FBXL4	HGNC	.	.	UPI000012ADE3	SNV	FBXL4,stop_gained,p.Glu57Ter,ENST00000229971,;FBXL4,stop_gained,p.Glu57Ter,ENST00000369244,;	598	70	82	SUCCESS
COL26A1	136227	.	GRCh37	7	101176396	101176396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	35	0	ENST00000313669.7:c.419G>T	p.Ser140Ile	p.S140I	ENST00000313669	NM_001278563.1	140	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	.	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAGTGAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24023:SF95,hmmpanther:PTHR24023	.	.	ENSP00000318234	.	4/14	.	.	.	.	.	.	.	.	.	4/14	nonpreferredpair	ENST00000313669	Transcript	.	.	ENSG00000160963	18038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.266)	.	deleterious(0.01)	.	.	COL26A1	HGNC	C9JPW4_HUMAN	.	UPI00004575C9	SNV	COL26A1,missense_variant,p.Ser140Ile,ENST00000313669,;COL26A1,missense_variant,p.Ser138Ile,ENST00000528707,;COL26A1,missense_variant,p.Ser140Ile,ENST00000397927,;	611	35	42	SUCCESS
DNAJC2	27000	.	GRCh37	7	102953436	102953436	+	synonymous_variant	Silent	SNP	C	C	T	rs772238229	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	52	133	0	ENST00000379263.3:c.1749G>A	p.Ala583=	p.A583=	ENST00000379263	NM_014377.1	583	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43628.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACCGCTTC	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67,Gene3D:1.10.10.60,Pfam_domain:PF00249,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000368565	.	16/17	.	.	.	.	.	.	.	.	rs772238229	16/17	nonpreferredpair	ENST00000379263	Transcript	.	.	ENSG00000105821	13192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJC2_HUMAN	DNAJC2	HGNC	Q08AR5_HUMAN,C9IZ83_HUMAN	.	UPI000020F858	SNV	DNAJC2,synonymous_variant,p.%3D,ENST00000249270,;DNAJC2,synonymous_variant,p.%3D,ENST00000379263,;PMPCB,3_prime_UTR_variant,,ENST00000249269,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	2000	133	145	SUCCESS
DOCK4	9732	.	GRCh37	7	111575684	111575684	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	51	113	0	ENST00000437633.1:c.978-1G>C		p.X326_splice	ENST00000437633	NM_014705.3	326		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACCTATGA	NONE	.	.	.	.	.	ENSP00000404179	.	.	.	.	.	.	.	.	.	.	COSM393752	.	nonpreferredpair	ENST00000437633	Transcript	.	.	ENSG00000128512	19192	.	.	HIGH	11/51	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DOCK4_HUMAN	DOCK4	HGNC	Q75MU6_HUMAN	.	UPI0000D5BB0D	SNV	DOCK4,splice_acceptor_variant,,ENST00000445943,;DOCK4,splice_acceptor_variant,,ENST00000428084,;DOCK4,splice_acceptor_variant,,ENST00000437633,;DOCK4,splice_acceptor_variant,,ENST00000476846,;	.	113	195	SUCCESS
ASB15	142685	.	GRCh37	7	123269106	123269106	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1376721710	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	66	158	0	ENST00000275699.3:c.1058C>T	p.Ala353Val	p.A353V	ENST00000275699	NM_080928.3	353	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS34742.1	1058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGCGCTGT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24188:SF0,hmmpanther:PTHR24188,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000397655	.	12/14	.	.	.	.	.	.	.	.	COSM1319036	12/14	nonpreferredpair	ENST00000451558	Transcript	.	.	ENSG00000146809	19767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.721)	.	tolerated(0.07)	1	ASB15_HUMAN	ASB15	HGNC	C9J956_HUMAN	.	UPI000022D0FF	SNV	ASB15,missense_variant,p.Ala353Val,ENST00000275699,;ASB15,missense_variant,p.Ala353Val,ENST00000540573,;ASB15,missense_variant,p.Ala353Val,ENST00000434204,;ASB15,missense_variant,p.Ala353Val,ENST00000451558,;ASB15,missense_variant,p.Ala353Val,ENST00000451215,;ASB15,downstream_gene_variant,,ENST00000447789,;RP11-390E23.3,upstream_gene_variant,,ENST00000429396,;RP11-390E23.3,upstream_gene_variant,,ENST00000418409,;RP11-390E23.3,upstream_gene_variant,,ENST00000440504,;RP11-390E23.3,upstream_gene_variant,,ENST00000422401,;RP11-390E23.3,upstream_gene_variant,,ENST00000451016,;	1579	158	224	SUCCESS
CLCN1	1180	.	GRCh37	7	143043750	143043750	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs199610988	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	19	0	ENST00000343257.2:c.2363A>T	p.Gln788Leu	p.Q788L	ENST00000343257	NM_000083.2	788	cAg/cTg	0	.	C:0	.	C:0.0043	.	T	Q/L	protein_coding	YES	CCDS5881.1	2363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCAGGTGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689	C:0	.	ENSP00000339867	C:0	19/23	.	.	.	.	.	.	.	.	rs199610988	19/23	nonpreferredpair	ENST00000343257	Transcript	.	C:0.0006	ENSG00000188037	2019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	C:0	tolerated(0.09)	.	CLCN1_HUMAN	CLCN1	HGNC	Q75L28_HUMAN	.	UPI000020F1EC	SNV	CLCN1,missense_variant,p.Gln788Leu,ENST00000343257,;	2450	19	36	SUCCESS
NOBOX	135935	.	GRCh37	7	144096937	144096937	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749172175	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	49	0	ENST00000467773.1:c.1067G>T	p.Arg356Leu	p.R356L	ENST00000467773	NM_001080413.3	356	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	.	1067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCCGGCGA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF282,hmmpanther:PTHR24329,Gene3D:1.10.10.60,SMART_domains:SM00389	.	.	ENSP00000419457	.	6/10	.	.	.	.	.	.	.	.	rs749172175	6/10	nonpreferredpair	ENST00000467773	Transcript	.	.	ENSG00000106410	22448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NOBOX_HUMAN	NOBOX	HGNC	.	.	UPI00019B220B	SNV	NOBOX,missense_variant,p.Arg239Leu,ENST00000223140,;NOBOX,missense_variant,p.Arg324Leu,ENST00000483238,;NOBOX,missense_variant,p.Arg356Leu,ENST00000467773,;	1067	49	74	SUCCESS
KMT2C	58508	.	GRCh37	7	151873528	151873528	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	39	82	0	ENST00000262189.6:c.9010C>G	p.Leu3004Val	p.L3004V	ENST00000262189	NM_170606.2	3004	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS5931.1	9010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGACTGT	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	38/59	.	.	.	.	.	.	.	.	.	38/59	nonpreferredpair	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Leu3004Val,ENST00000355193,;KMT2C,missense_variant,p.Leu510Val,ENST00000360104,;KMT2C,missense_variant,p.Leu3004Val,ENST00000262189,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	9229	82	143	SUCCESS
MAD1L1	8379	.	GRCh37	7	2252879	2252879	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	38	0	ENST00000265854.7:c.954G>A	p.Glu318=	p.E318=	ENST00000265854		318	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS43539.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCTCCCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0,Pfam_domain:PF05557	.	.	ENSP00000385334	.	10/19	.	.	.	.	.	.	.	.	.	10/19	nonpreferredpair	ENST00000406869	Transcript	.	.	ENSG00000002822	6762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MD1L1_HUMAN	MAD1L1	HGNC	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN	.	UPI0000072C4D	SNV	MAD1L1,synonymous_variant,p.%3D,ENST00000445959,;MAD1L1,synonymous_variant,p.%3D,ENST00000402746,;MAD1L1,synonymous_variant,p.%3D,ENST00000399654,;MAD1L1,synonymous_variant,p.%3D,ENST00000406869,;MAD1L1,synonymous_variant,p.%3D,ENST00000265854,;MAD1L1,downstream_gene_variant,,ENST00000429625,;MAD1L1,non_coding_transcript_exon_variant,,ENST00000469871,;MAD1L1,non_coding_transcript_exon_variant,,ENST00000486340,;MAD1L1,upstream_gene_variant,,ENST00000459731,;	1512	38	44	SUCCESS
CARD11	84433	.	GRCh37	7	2951897	2951897	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	39	0	ENST00000396946.4:c.3053A>G	p.Gln1018Arg	p.Q1018R	ENST00000396946	NM_032415.4	1018	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5336.2	3053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTGCCTT	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10,Superfamily_domains:SSF52540	.	.	ENSP00000380150	.	23/25	.	.	.	.	.	.	.	.	.	23/25	nonpreferredpair	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated(0.08)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Gln1018Arg,ENST00000396946,;	3457	39	97	SUCCESS
NPSR1	387129	.	GRCh37	7	34917718	34917718	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	65	143	0	ENST00000359791.1:c.1056T>A	p.Ala352=	p.A352=	ENST00000359791	NM_207173.1	352	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5443.1	1056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGCGCT	NONE	.	.	.	.	.	ENSP00000352839	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000359791	Transcript	.	.	ENSG00000187258	23631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,synonymous_variant,p.%3D,ENST00000359791,;NPSR1,synonymous_variant,p.%3D,ENST00000531252,;	1184	143	227	SUCCESS
GPR141	353345	.	GRCh37	7	37780305	37780305	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	66	0	ENST00000334425.1:c.310C>G	p.Leu104Val	p.L104V	ENST00000334425	NM_181791.1	104	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS5451.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCCTATTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000390410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000447769	Transcript	.	.	ENSG00000187037	19997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	tolerated(0.24)	.	GP141_HUMAN	GPR141	HGNC	C9JDP7_HUMAN	.	UPI000004B92B	SNV	GPR141,missense_variant,p.Leu104Val,ENST00000450180,;GPR141,missense_variant,p.Leu104Val,ENST00000334425,;GPR141,missense_variant,p.Leu104Val,ENST00000447769,;EPDR1,intron_variant,,ENST00000476620,;GPR141,intron_variant,,ENST00000461610,;	599	66	116	SUCCESS
NACAD	23148	.	GRCh37	7	45120738	45120738	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	67	0	ENST00000490531.2:c.4382A>T	p.Tyr1461Phe	p.Y1461F	ENST00000490531	NM_001146334.1	1461	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS47582.1	4382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATAAGTG	NONE	.	.	Pfam_domain:PF01849,hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713,PROSITE_profiles:PS51151	.	.	ENSP00000420477	.	5/8	.	.	.	.	.	.	.	.	.	5/8	nonpreferredpair	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Tyr1461Phe,ENST00000490531,;CCM2,downstream_gene_variant,,ENST00000474617,;CCM2,downstream_gene_variant,,ENST00000541586,;CCM2,downstream_gene_variant,,ENST00000381112,;CCM2,downstream_gene_variant,,ENST00000544363,;CCM2,downstream_gene_variant,,ENST00000258781,;CCM2,downstream_gene_variant,,ENST00000475551,;CCM2,downstream_gene_variant,,ENST00000461377,;NACAD,non_coding_transcript_exon_variant,,ENST00000460409,;CCM2,downstream_gene_variant,,ENST00000477605,;CCM2,downstream_gene_variant,,ENST00000488727,;CCM2,downstream_gene_variant,,ENST00000481194,;	4402	67	103	SUCCESS
PKD1L1	168507	.	GRCh37	7	47886593	47886593	+	synonymous_variant	Silent	SNP	T	T	A	rs777582396	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	104	195	0	ENST00000289672.2:c.5037A>T	p.Ala1679=	p.A1679=	ENST00000289672	NM_138295.3	1679	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS34633.1	5037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACTGCCTT	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	32/57	.	.	.	.	.	.	.	.	rs777582396	32/57	nonpreferredpair	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,synonymous_variant,p.%3D,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	5088	195	302	SUCCESS
DDC	1644	.	GRCh37	7	50611801	50611801	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	69	0	ENST00000357936.5:c.-18T>A		p.*6*	ENST00000357936	NM_000790.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5511.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCAGAGGT	NONE	.	.	.	.	.	ENSP00000403644	.	2/15	.	.	.	.	.	.	.	.	.	2/15	nonpreferredpair	ENST00000444124	Transcript	.	.	ENSG00000132437	2719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDC_HUMAN	DDC	HGNC	C9JMP0_HUMAN	.	UPI000013F150	SNV	DDC,5_prime_UTR_variant,,ENST00000426377,;DDC,5_prime_UTR_variant,,ENST00000444124,;DDC,5_prime_UTR_variant,,ENST00000380984,;DDC,5_prime_UTR_variant,,ENST00000420203,;DDC,5_prime_UTR_variant,,ENST00000431062,;DDC,5_prime_UTR_variant,,ENST00000357936,;DDC,upstream_gene_variant,,ENST00000430300,;AC018705.5,downstream_gene_variant,,ENST00000454521,;DDC,upstream_gene_variant,,ENST00000489162,;DDC,5_prime_UTR_variant,,ENST00000444733,;	184	69	96	SUCCESS
SLC29A4	222962	.	GRCh37	7	5336621	5336621	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs757496111	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	30	0	ENST00000297195.4:c.674C>G	p.Pro225Arg	p.P225R	ENST00000297195	NM_001040661.1	225	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS5340.1	674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCCGACG	NONE	.	.	hmmpanther:PTHR10332:SF4,hmmpanther:PTHR10332,Pfam_domain:PF01733,Superfamily_domains:SSF103473	.	.	ENSP00000380081	.	7/11	.	.	.	.	.	.	.	.	rs757496111	7/11	nonpreferredpair	ENST00000396872	Transcript	.	.	ENSG00000164638	23097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.1)	.	S29A4_HUMAN	SLC29A4	HGNC	C9IYM7_HUMAN	.	UPI0000051F6F	SNV	SLC29A4,missense_variant,p.Pro225Arg,ENST00000297195,;SLC29A4,missense_variant,p.Pro225Arg,ENST00000396872,;SLC29A4,missense_variant,p.Pro211Arg,ENST00000406453,;SLC29A4,upstream_gene_variant,,ENST00000439491,;	835	30	42	SUCCESS
FZD9	8326	.	GRCh37	7	72849306	72849306	+	synonymous_variant	Silent	SNP	C	C	T	rs144961735	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	33	0	ENST00000344575.3:c.969C>T	p.Phe323=	p.F323=	ENST00000344575	NM_003508.2	323	ttC/ttT	0	T:0.0005	.	.	.	.	T	F	protein_coding	YES	CCDS5548.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCGGCAT	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Pfam_domain:PF01534,Prints_domain:PR00489	.	T:0	ENSP00000345785	.	1/1	.	.	.	.	.	.	.	.	rs144961735	1/1	nonpreferredpair	ENST00000344575	Transcript	.	.	ENSG00000188763	4047	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD9_HUMAN	FZD9	HGNC	.	.	UPI000004EC98	SNV	FZD9,synonymous_variant,p.%3D,ENST00000344575,;	1198	33	55	SUCCESS
HIP1	3092	.	GRCh37	7	75176292	75176292	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	57	0	ENST00000336926.6:c.2504A>T	p.Gln835Leu	p.Q835L	ENST00000336926	NM_005338.6	835	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34669.1	2504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTGAATA	NONE	.	.	PROSITE_profiles:PS50945,hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407,Gene3D:1r0dB00,SMART_domains:SM00307,Superfamily_domains:SSF109885	.	.	ENSP00000336747	.	25/31	.	.	.	.	.	.	.	.	.	25/31	nonpreferredpair	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious(0.02)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Gln835Leu,ENST00000336926,;HIP1,intron_variant,,ENST00000434438,;	2531	57	76	SUCCESS
SEMA3A	10371	.	GRCh37	7	83675692	83675692	+	synonymous_variant	Silent	SNP	A	A	C	rs548421717	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	60	99	0	ENST00000265362.4:c.615T>G	p.Leu205=	p.L205=	ENST00000265362	NM_006080.2	205	ctT/ctG	0	.	G:0.0008	.	G:0	.	C	L	protein_coding	YES	CCDS5599.1	615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAAGAGT	NONE	by1000G	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	G:0	.	ENSP00000265362	G:0	6/17	.	.	.	.	.	.	.	.	rs548421717	6/17	nonpreferredpair	ENST00000265362	Transcript	.	G:0.0002	ENSG00000075213	10723	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,synonymous_variant,p.%3D,ENST00000265362,;SEMA3A,synonymous_variant,p.%3D,ENST00000436949,;	930	99	204	SUCCESS
SAMD9L	219285	.	GRCh37	7	92763732	92763732	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	68	100	0	ENST00000318238.4:c.1553A>C	p.Gln518Pro	p.Q518P	ENST00000318238	NM_152703.2	518	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34681.1	1553	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTGCCAT	NONE	.	.	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	.	.	ENSP00000326247	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000318238	Transcript	.	.	ENSG00000177409	1349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.16)	.	SAM9L_HUMAN	SAMD9L	HGNC	B4E3M1_HUMAN	.	UPI000020F567	SNV	SAMD9L,missense_variant,p.Gln518Pro,ENST00000318238,;SAMD9L,missense_variant,p.Gln518Pro,ENST00000437805,;SAMD9L,missense_variant,p.Gln518Pro,ENST00000411955,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;	2770	100	199	SUCCESS
TRIM4	89122	.	GRCh37	7	99506413	99506413	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	43	0	ENST00000355947.2:c.590T>C	p.Met197Thr	p.M197T	ENST00000355947	NM_033017.3	197	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS5679.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCATTCGC	NONE	.	.	hmmpanther:PTHR24103:SF91,hmmpanther:PTHR24103	.	.	ENSP00000348216	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000355947	Transcript	.	.	ENSG00000146833	16275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.41)	.	TRIM4_HUMAN	TRIM4	HGNC	B4DEC5_HUMAN	.	UPI000013DA79	SNV	TRIM4,missense_variant,p.Met171Thr,ENST00000349062,;TRIM4,missense_variant,p.Met171Thr,ENST00000354241,;TRIM4,missense_variant,p.Met73Thr,ENST00000447480,;TRIM4,missense_variant,p.Met197Thr,ENST00000355947,;TRIM4,non_coding_transcript_exon_variant,,ENST00000496896,;	720	43	92	SUCCESS
STAG3	10734	.	GRCh37	7	99778164	99778164	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	27	0	ENST00000317296.5:c.-16C>A		p.*6*	ENST00000317296	NM_012447.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34703.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGCTCCTC	NONE	.	.	.	.	.	ENSP00000400359	.	2/34	.	.	.	.	.	.	.	.	.	2/34	nonpreferredpair	ENST00000426455	Transcript	.	.	ENSG00000066923	11356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAG3_HUMAN	STAG3	HGNC	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN	.	UPI000020F6E0	SNV	STAG3,5_prime_UTR_variant,,ENST00000422690,;STAG3,5_prime_UTR_variant,,ENST00000426455,;STAG3,5_prime_UTR_variant,,ENST00000394018,;STAG3,5_prime_UTR_variant,,ENST00000317296,;STAG3,5_prime_UTR_variant,,ENST00000416412,;STAG3,5_prime_UTR_variant,,ENST00000439782,;GPC2,upstream_gene_variant,,ENST00000292377,;GPC2,upstream_gene_variant,,ENST00000480087,;GPC2,upstream_gene_variant,,ENST00000482569,;STAG3,upstream_gene_variant,,ENST00000459699,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,non_coding_transcript_exon_variant,,ENST00000482546,;GPC2,upstream_gene_variant,,ENST00000471717,;GPC2,upstream_gene_variant,,ENST00000490629,;	392	27	47	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110471959	110471959	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	77	156	2	ENST00000378402.5:c.7140A>C	p.Glu2380Asp	p.E2380D	ENST00000378402	NM_177531.4	2380	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS47911.1	7140	RADIA|SOMATICSNIPER|VARSCANS	.	TTTGAAGCAAG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	.	.	ENSP00000367655	.	47/78	.	.	.	.	.	.	.	.	.	47/78	nonpreferredpair	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.21)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Glu2380Asp,ENST00000378402,;	7244	158	197	SUCCESS
HAS2	3037	.	GRCh37	8	122626466	122626466	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	124	0	ENST00000303924.4:c.1542T>A	p.Val514=	p.V514=	ENST00000303924	NM_005328.2	514	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6335.1	1542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCAACAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7	.	.	ENSP00000306991	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000303924	Transcript	.	.	ENSG00000170961	4819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYAS2_HUMAN	HAS2	HGNC	.	.	UPI000012C0A9	SNV	HAS2,synonymous_variant,p.%3D,ENST00000303924,;	2080	124	111	SUCCESS
TSTA3	0	.	GRCh37	8	144698802	144698802	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	79	0	ENST00000425753.2:c.81A>C	p.Val27=	p.V27=	ENST00000425753	NM_003313.3	27	gtA/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6408.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTACCAC	NONE	.	.	HAMAP:MF_00956,hmmpanther:PTHR10366:SF259,hmmpanther:PTHR10366,Gene3D:3.40.50.720,Pfam_domain:PF01370,Superfamily_domains:SSF51735	.	.	ENSP00000398803	.	2/11	.	.	.	.	.	.	.	.	.	2/11	nonpreferredpair	ENST00000425753	Transcript	.	.	ENSG00000104522	12390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCL_HUMAN	TSTA3	HGNC	E9PP14_HUMAN,E9PLH9_HUMAN,E9PKL9_HUMAN	.	UPI000012A5A5	SNV	TSTA3,synonymous_variant,p.%3D,ENST00000529048,;TSTA3,synonymous_variant,p.%3D,ENST00000425753,;TSTA3,synonymous_variant,p.%3D,ENST00000529064,;TSTA3,synonymous_variant,p.%3D,ENST00000526290,;TSTA3,synonymous_variant,p.%3D,ENST00000533817,;TSTA3,upstream_gene_variant,,ENST00000524719,;TSTA3,upstream_gene_variant,,ENST00000527006,;TSTA3,synonymous_variant,p.%3D,ENST00000530474,;TSTA3,non_coding_transcript_exon_variant,,ENST00000525274,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531473,;TSTA3,non_coding_transcript_exon_variant,,ENST00000531006,;TSTA3,non_coding_transcript_exon_variant,,ENST00000527549,;TSTA3,non_coding_transcript_exon_variant,,ENST00000532308,;TSTA3,non_coding_transcript_exon_variant,,ENST00000529899,;TSTA3,upstream_gene_variant,,ENST00000528920,;TSTA3,upstream_gene_variant,,ENST00000527677,;	185	79	87	SUCCESS
STAR	6770	.	GRCh37	8	38005778	38005778	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	39	0	ENST00000276449.4:c.246C>A	p.Ala82=	p.A82=	ENST00000276449	NM_000349.2	82	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6102.1	246	MUTECT|MUSE	.	TGCATGGCCTC	NONE	.	.	PROSITE_profiles:PS50848,hmmpanther:PTHR12136:SF9,hmmpanther:PTHR12136,Pfam_domain:PF01852,Gene3D:3.30.530.20,SMART_domains:SM00234,Superfamily_domains:SSF55961	.	.	ENSP00000276449	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000276449	Transcript	1	.	ENSG00000147465	11359	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAR_HUMAN	STAR	HGNC	Q6QNJ9_HUMAN,Q6IBK0_HUMAN,E5RH12_HUMAN	.	UPI000013DAC9	SNV	STAR,synonymous_variant,p.%3D,ENST00000522050,;STAR,synonymous_variant,p.%3D,ENST00000276449,;STAR,5_prime_UTR_variant,,ENST00000521236,;RP11-90P5.2,upstream_gene_variant,,ENST00000520598,;STAR,non_coding_transcript_exon_variant,,ENST00000520114,;ASH2L,downstream_gene_variant,,ENST00000521808,;	693	39	56	SUCCESS
ANK1	286	.	GRCh37	8	41547821	41547821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	62	0	ENST00000347528.4:c.4028T>A	p.Leu1343Gln	p.L1343Q	ENST00000347528	NM_020477.2	1343	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS47849.1	4151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCAGAAAC	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	.	.	ENSP00000265709	.	34/43	.	.	.	.	.	.	.	.	.	34/43	nonpreferredpair	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.813)	.	deleterious(0)	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Leu1384Gln,ENST00000265709,;ANK1,missense_variant,p.Leu1343Gln,ENST00000289734,;ANK1,missense_variant,p.Leu1343Gln,ENST00000347528,;ANK1,missense_variant,p.Leu665Gln,ENST00000520299,;ANK1,missense_variant,p.Leu1343Gln,ENST00000352337,;ANK1,missense_variant,p.Leu1343Gln,ENST00000379758,;ANK1,missense_variant,p.Leu1343Gln,ENST00000396942,;ANK1,missense_variant,p.Leu1343Gln,ENST00000396945,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000518061,;ANK1,downstream_gene_variant,,ENST00000524069,;	4433	62	72	SUCCESS
ST18	9705	.	GRCh37	8	53050033	53050033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	94	0	ENST00000276480.7:c.2179C>A	p.Pro727Thr	p.P727T	ENST00000276480	NM_014682.2	727	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6149.1	2179	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTGTTG	NONE	.	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000276480	.	18/26	.	.	.	.	.	.	.	.	.	18/26	nonpreferredpair	ENST00000276480	Transcript	.	.	ENSG00000147488	18695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,missense_variant,p.Pro727Thr,ENST00000276480,;ST18,non_coding_transcript_exon_variant,,ENST00000518501,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,upstream_gene_variant,,ENST00000522861,;ST18,upstream_gene_variant,,ENST00000518053,;	2863	94	105	SUCCESS
RP1	6101	.	GRCh37	8	55533794	55533794	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779243716	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	74	0	ENST00000220676.1:c.268C>G	p.His90Asp	p.H90D	ENST00000220676	NM_006269.1	90	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS6160.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCACAGC	BUFFER|p.R87W|c.259C>T|3	byFrequency	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Pfam_domain:PF03607,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs779243716	2/4	nonpreferredpair	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.His90Asp,ENST00000220676,;	416	74	54	SUCCESS
CHD7	55636	.	GRCh37	8	61769252	61769252	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	64	106	1	ENST00000423902.2:c.7413A>G	p.Ser2471=	p.S2471=	ENST00000423902	NM_017780.3	2471	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47865.1	7413	RADIA|SOMATICSNIPER|VARSCANS	.	GTCTCAACACC	NONE	.	.	.	.	.	ENSP00000392028	.	34/38	.	.	.	.	.	.	.	.	.	34/38	nonpreferredpair	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,synonymous_variant,p.%3D,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;CHD7,non_coding_transcript_exon_variant,,ENST00000529472,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000531695,;	7892	107	130	SUCCESS
PEX2	5828	.	GRCh37	8	77895734	77895734	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	47	0	ENST00000357039.4:c.681T>A	p.Leu227=	p.L227=	ENST00000357039	NM_000318.2	227	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6221.1	681	RADIA|MUTECT|MUSE	.	CCAGTAAGAGG	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,synonymous_variant,p.%3D,ENST00000419564,;PEX2,synonymous_variant,p.%3D,ENST00000522527,;PEX2,synonymous_variant,p.%3D,ENST00000520103,;PEX2,synonymous_variant,p.%3D,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1146	47	58	SUCCESS
PEX2	5828	.	GRCh37	8	77895736	77895736	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	45	0	ENST00000357039.4:c.679C>T	p.Leu227Phe	p.L227F	ENST00000357039	NM_000318.2	227	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS6221.1	679	RADIA|MUTECT|MUSE	.	AGTAAGAGGAA	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	tolerated(0.26)	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,missense_variant,p.Leu227Phe,ENST00000419564,;PEX2,missense_variant,p.Leu227Phe,ENST00000522527,;PEX2,missense_variant,p.Leu227Phe,ENST00000520103,;PEX2,missense_variant,p.Leu227Phe,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1144	45	58	SUCCESS
PEX2	5828	.	GRCh37	8	77895737	77895737	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	44	0	ENST00000357039.4:c.678T>A	p.Pro226=	p.P226=	ENST00000357039	NM_000318.2	226	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6221.1	678	RADIA|MUTECT|MUSE	.	GTAAGAGGAAT	NONE	.	.	hmmpanther:PTHR12590,hmmpanther:PTHR12590:SF3	.	.	ENSP00000400984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000419564	Transcript	1	.	ENSG00000164751	9717	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEX2_HUMAN	PEX2	HGNC	E5RIW9_HUMAN	.	UPI000013E3FB	SNV	PEX2,synonymous_variant,p.%3D,ENST00000419564,;PEX2,synonymous_variant,p.%3D,ENST00000522527,;PEX2,synonymous_variant,p.%3D,ENST00000520103,;PEX2,synonymous_variant,p.%3D,ENST00000357039,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000520203,;	1143	44	59	SUCCESS
PSKH2	85481	.	GRCh37	8	87076277	87076277	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	65	0	ENST00000276616.2:c.769A>T	p.Ser257Cys	p.S257C	ENST00000276616	NM_033126.1	257	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS6240.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCTAAGTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF135,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000276616	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000276616	Transcript	.	.	ENSG00000147613	18997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	tolerated(0.53)	.	KPSH2_HUMAN	PSKH2	HGNC	.	.	UPI000006F951	SNV	PSKH2,missense_variant,p.Ser257Cys,ENST00000276616,;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,downstream_gene_variant,,ENST00000523010,;PSKH2,downstream_gene_variant,,ENST00000517981,;	844	65	81	SUCCESS
BRINP1	1620	.	GRCh37	9	121976051	121976051	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	14	0	ENST00000265922.3:c.922+146T>C		p.*308*	ENST00000265922	NM_014618.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6822.1	.	RADIA|MUTECT|MUSE	.	CAGCTATTATA	NONE	.	.	.	.	.	ENSP00000265922	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,3_prime_UTR_variant,,ENST00000373964,;BRINP1,intron_variant,,ENST00000265922,;BRINP1,upstream_gene_variant,,ENST00000482797,;	.	14	10	SUCCESS
GARNL3	84253	.	GRCh37	9	130106562	130106562	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	72	132	0	ENST00000373387.4:c.1300A>G	p.Lys434Glu	p.K434E	ENST00000373387	NM_032293.4	434	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS6869.2	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAAGTCA	NONE	.	.	hmmpanther:PTHR15711	.	.	ENSP00000362485	.	15/28	.	.	.	.	.	.	.	.	COSM3375082	15/28	nonpreferredpair	ENST00000373387	Transcript	.	.	ENSG00000136895	25425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.176)	.	tolerated(0.22)	1	GARL3_HUMAN	GARNL3	HGNC	B4DH81_HUMAN	.	UPI0000EE56F2	SNV	GARNL3,missense_variant,p.Lys434Glu,ENST00000314904,;GARNL3,missense_variant,p.Lys412Glu,ENST00000435213,;GARNL3,missense_variant,p.Lys434Glu,ENST00000373387,;GARNL3,downstream_gene_variant,,ENST00000464616,;GARNL3,missense_variant,p.Lys24Glu,ENST00000460176,;GARNL3,missense_variant,p.Lys416Glu,ENST00000373386,;	1652	132	164	SUCCESS
NUP188	23511	.	GRCh37	9	131763862	131763862	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	25	0	ENST00000372577.2:c.3898G>A	p.Gly1300Ser	p.G1300S	ENST00000372577	NM_015354.2	1300	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS35156.1	3898	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGGTGAC	NONE	.	.	hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1	.	.	ENSP00000361658	.	35/44	.	.	.	.	.	.	.	.	.	35/44	nonpreferredpair	ENST00000372577	Transcript	.	.	ENSG00000095319	17859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.25)	.	NU188_HUMAN	NUP188	HGNC	.	.	UPI000041A60F	SNV	NUP188,missense_variant,p.Gly1300Ser,ENST00000372577,;RP11-167N5.5,downstream_gene_variant,,ENST00000594418,;NUP188,non_coding_transcript_exon_variant,,ENST00000487952,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,downstream_gene_variant,,ENST00000495726,;	3919	25	27	SUCCESS
NELFB	25920	.	GRCh37	9	140160781	140160781	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	95	0	ENST00000343053.4:c.1000-2A>G		p.X334_splice	ENST00000343053	NM_015456.3	334		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGGACA	NONE	.	.	.	.	.	ENSP00000339495	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	HIGH	7/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,splice_acceptor_variant,,ENST00000343053,;	.	95	85	SUCCESS
CNTLN	54875	.	GRCh37	9	17309125	17309125	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	144	243	0	ENST00000380647.3:c.1216A>T	p.Thr406Ser	p.T406S	ENST00000380647		406	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS43789.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTACTAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	8/26	.	.	.	.	.	.	.	.	.	8/26	nonpreferredpair	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.03)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Thr406Ser,ENST00000425824,;CNTLN,missense_variant,p.Thr406Ser,ENST00000262360,;CNTLN,missense_variant,p.Thr406Ser,ENST00000380647,;	1300	243	344	SUCCESS
UBQLN1	29979	.	GRCh37	9	86284174	86284174	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	55	0	ENST00000376395.4:c.1174C>A	p.Gln392Lys	p.Q392K	ENST00000376395	NM_053067.2	392	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS6663.1	1174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGCATCA	NONE	.	.	SMART_domains:SM00727,hmmpanther:PTHR10677:SF16,hmmpanther:PTHR10677	.	.	ENSP00000365576	.	7/11	.	.	.	.	.	.	.	.	.	7/11	nonpreferredpair	ENST00000376395	Transcript	.	.	ENSG00000135018	12508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0.02)	.	UBQL1_HUMAN	UBQLN1	HGNC	.	.	UPI0000038DA1	SNV	UBQLN1,missense_variant,p.Gln392Lys,ENST00000376395,;UBQLN1,missense_variant,p.Gln12Lys,ENST00000526134,;UBQLN1,missense_variant,p.Gln392Lys,ENST00000257468,;UBQLN1,non_coding_transcript_exon_variant,,ENST00000533705,;UBQLN1,upstream_gene_variant,,ENST00000527373,;	1698	55	83	SUCCESS
MAGEC2	51438	.	GRCh37	X	141291161	141291161	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752666028	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	57	124	0	ENST00000247452.3:c.613T>A	p.Phe205Ile	p.F205I	ENST00000247452	NM_016249.3	205	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS14678.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGAAGTGGT	NONE	byFrequency	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,Pfam_domain:PF01454	.	.	ENSP00000354660	.	3/3	.	.	.	.	.	.	.	.	rs752666028,COSM1556989	3/3	nonpreferredpair	ENST00000247452	Transcript	.	.	ENSG00000046774	13574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.069)	.	deleterious(0.03)	0,1	MAGC2_HUMAN	MAGEC2	HGNC	.	.	UPI000012F059	SNV	MAGEC2,missense_variant,p.Phe205Ile,ENST00000247452,;	961	124	131	SUCCESS
GPR50	9248	.	GRCh37	X	150349506	150349506	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1027467005	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	56	0	ENST00000218316.3:c.1451C>A	p.Ala484Asp	p.A484D	ENST00000218316	NM_004224.3	484	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS44012.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCTGGCA	NONE	.	.	.	.	.	ENSP00000218316	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000218316	Transcript	.	.	ENSG00000102195	4506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious_low_confidence(0)	.	MTR1L_HUMAN	GPR50	HGNC	.	.	UPI000013C755	SNV	GPR50,missense_variant,p.Ala484Asp,ENST00000218316,;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	1520	56	57	SUCCESS
PRDX4	10549	.	GRCh37	X	23693213	23693213	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	329	210	408	0	ENST00000379341.4:c.466C>G	p.His156Asp	p.H156D	ENST00000379341	NM_006406.1	156	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS14206.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCCATTTG	NONE	.	.	Superfamily_domains:SSF52833,Pfam_domain:PF00578,Gene3D:3.40.30.10,hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF101,PROSITE_profiles:PS51352	.	.	ENSP00000368646	.	3/7	.	.	.	.	.	.	.	.	.	3/7	nonpreferredpair	ENST00000379341	Transcript	.	.	ENSG00000123131	17169	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRDX4_HUMAN	PRDX4	HGNC	.	.	UPI00001314E8	SNV	PRDX4,missense_variant,p.His142Asp,ENST00000379349,;PRDX4,missense_variant,p.His34Asp,ENST00000439422,;PRDX4,missense_variant,p.His156Asp,ENST00000379331,;PRDX4,missense_variant,p.His156Asp,ENST00000379341,;PRDX4,non_coding_transcript_exon_variant,,ENST00000495599,;	591	409	539	SUCCESS
PFKFB1	5207	.	GRCh37	X	54982655	54982655	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	91	0	ENST00000375006.3:c.569T>G	p.Leu190Arg	p.L190R	ENST00000375006	NM_001271804.1	190	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS14364.1	569	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGAACC	NONE	.	.	hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.300,Pfam_domain:PF01591,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF52540,Prints_domain:PR00991	.	.	ENSP00000364145	.	7/14	.	.	.	.	.	.	.	.	.	7/14	nonpreferredpair	ENST00000375006	Transcript	.	.	ENSG00000158571	8872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.475)	.	.	.	F261_HUMAN	PFKFB1	HGNC	I1Z9G4_HUMAN,I1Z9G3_HUMAN	.	UPI000012A3ED	SNV	PFKFB1,missense_variant,p.Leu125Arg,ENST00000545676,;PFKFB1,missense_variant,p.Leu190Arg,ENST00000375006,;PFKFB1,intron_variant,,ENST00000374992,;	640	91	68	SUCCESS
DIAPH2	1730	.	GRCh37	X	95940062	95940062	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	69	116	0	ENST00000324765.8:c.5A>C	p.Glu2Ala	p.E2A	ENST00000324765		2	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS14467.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGAGCAGC	NONE	.	.	.	.	.	ENSP00000321348	.	1/27	.	.	.	.	.	.	.	.	.	1/27	nonpreferredpair	ENST00000324765	Transcript	.	.	ENSG00000147202	2877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	DIAP2_HUMAN	DIAPH2	HGNC	.	.	UPI00001293C8	SNV	DIAPH2,missense_variant,p.Glu2Ala,ENST00000373054,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000355827,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000324765,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000373049,;DIAPH2,missense_variant,p.Glu2Ala,ENST00000373061,;	352	116	157	SUCCESS
TTC18	0	.	GRCh37	10	75071614	75071614	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	86	0	ENST00000310715.3:c.1352T>A	p.Leu451Gln	p.L451Q	ENST00000310715	NM_145170.3	451	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS7324.3	1352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTAGAGGG	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF361	.	.	ENSP00000310829	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000310715	Transcript	.	.	ENSG00000156042	30726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	tolerated(0.62)	.	.	TTC18	HGNC	.	.	UPI00001AEF7A	SNV	TTC18,missense_variant,p.Leu451Gln,ENST00000401621,;TTC18,missense_variant,p.Leu451Gln,ENST00000310715,;TTC18,missense_variant,p.Leu451Gln,ENST00000394865,;TTC18,5_prime_UTR_variant,,ENST00000355577,;TTC18,intron_variant,,ENST00000340329,;TTC18,non_coding_transcript_exon_variant,,ENST00000493787,;	1473	86	87	SUCCESS
KCNMA1	3778	.	GRCh37	10	78799394	78799394	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	82	0	ENST00000286628.8:c.1751T>C	p.Ile584Thr	p.I584T	ENST00000286628	NM_001161352.1	584	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS53545.1	1751	MUTECT|MUSE	.	CCTCAATCTAA	NONE	.	.	hmmpanther:PTHR10027:SF18,hmmpanther:PTHR10027,Pfam_domain:PF03493	.	.	ENSP00000385806	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	tolerated(0.75)	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,missense_variant,p.Ile584Thr,ENST00000404857,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000406533,;KCNMA1,missense_variant,p.Ile521Thr,ENST00000372408,;KCNMA1,missense_variant,p.Ile535Thr,ENST00000372403,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000372440,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000286628,;KCNMA1,missense_variant,p.Ile445Thr,ENST00000604624,;KCNMA1,missense_variant,p.Ile519Thr,ENST00000372437,;KCNMA1,missense_variant,p.Ile77Thr,ENST00000450795,;KCNMA1,missense_variant,p.Ile68Thr,ENST00000428546,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000354353,;KCNMA1,missense_variant,p.Ile558Thr,ENST00000457953,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000372443,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000286627,;KCNMA1,missense_variant,p.Ile263Thr,ENST00000434208,;KCNMA1,missense_variant,p.Ile584Thr,ENST00000404771,;KCNMA1,missense_variant,p.Ile558Thr,ENST00000372421,;	1751	82	92	SUCCESS
PATE3	100169851	.	GRCh37	11	125660434	125660434	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	71	0	ENST00000445202.1:c.234T>A	p.Asp78Glu	p.D78E	ENST00000445202	NM_001129883.3	78	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS44764.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATCTCAG	NONE	.	.	hmmpanther:PTHR17571,hmmpanther:PTHR17571:SF28,Gene3D:2.10.60.10	.	.	ENSP00000395505	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445202	Transcript	.	.	ENSG00000236027	35426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	PATE3_HUMAN	PATE3	HGNC	.	.	UPI0000EE3AA7	SNV	PATE3,missense_variant,p.Asp78Glu,ENST00000445202,;	275	71	56	SUCCESS
KLRC4	8302	.	GRCh37	12	10560370	10560370	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	68	215	0	ENST00000309384.1:c.359G>A	p.Cys120Tyr	p.C120Y	ENST00000309384	NM_013431.2	120	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS8624.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACAATGG	NONE	.	.	hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF148,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	.	.	ENSP00000310216	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309384	Transcript	.	.	ENSG00000183542	6377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0.01)	.	NKG2F_HUMAN	KLRC4	HGNC	H3BU71_HUMAN,H3BRK7_HUMAN	.	UPI000013EE96	SNV	KLRC4,missense_variant,p.Cys120Tyr,ENST00000309384,;NKG2-E,downstream_gene_variant,,ENST00000539033,;KLRC3,downstream_gene_variant,,ENST00000381904,;KLRC3,downstream_gene_variant,,ENST00000396439,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000591546,;KLRC4-KLRK1,missense_variant,p.Cys112Tyr,ENST00000586581,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000590131,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000543812,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000585507,;KLRC4-KLRK1,missense_variant,p.Cys112Tyr,ENST00000539300,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000588263,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000588447,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000591937,;KLRC4-KLRK1,missense_variant,p.Cys37Tyr,ENST00000590323,;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,;KLRC4-KLRK1,upstream_gene_variant,,ENST00000543572,;KLRC4-KLRK1,upstream_gene_variant,,ENST00000585711,;	541	215	169	SUCCESS
HECTD4	283450	.	GRCh37	12	112673432	112673432	+	synonymous_variant	Silent	SNP	G	G	A	rs373022791	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	102	0	ENST00000550722.1:c.5163C>T	p.Asn1721=	p.N1721=	ENST00000550722	NM_001109662.3	1721	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	.	5163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGTTTCC	NONE	byCluster	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	A:0.0001	ENSP00000449784	.	36/76	.	.	.	.	.	.	.	.	rs373022791	36/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,synonymous_variant,p.%3D,ENST00000430131,;HECTD4,synonymous_variant,p.%3D,ENST00000550722,;HECTD4,synonymous_variant,p.%3D,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000547519,;	5559	102	105	SUCCESS
ERC1	23085	.	GRCh37	12	1192720	1192720	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1486634998	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	76	0	ENST00000360905.4:c.1060G>A	p.Glu354Lys	p.E354K	ENST00000360905		354	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8508.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGAAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Pfam_domain:PF10174	.	.	ENSP00000380386	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000397203	Transcript	.	.	ENSG00000082805	17072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	tolerated(0.1)	.	RB6I2_HUMAN	ERC1	HGNC	K7EKH8_HUMAN,K7EIZ7_HUMAN	.	UPI000007479C	SNV	ERC1,missense_variant,p.Glu354Lys,ENST00000546231,;ERC1,missense_variant,p.Glu203Lys,ENST00000592048,;ERC1,missense_variant,p.Glu354Lys,ENST00000360905,;ERC1,missense_variant,p.Glu354Lys,ENST00000589028,;ERC1,missense_variant,p.Glu354Lys,ENST00000397203,;ERC1,missense_variant,p.Glu354Lys,ENST00000543086,;ERC1,missense_variant,p.Glu354Lys,ENST00000355446,;ERC1,upstream_gene_variant,,ENST00000536573,;ERC1,missense_variant,p.Glu354Lys,ENST00000542302,;ERC1,missense_variant,p.Glu354Lys,ENST00000440394,;ERC1,missense_variant,p.Glu354Lys,ENST00000347735,;ERC1,non_coding_transcript_exon_variant,,ENST00000539007,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,intron_variant,,ENST00000545948,;	1466	76	77	SUCCESS
GALNT9	50614	.	GRCh37	12	132685703	132685703	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1422245011	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	86	0	ENST00000397325.2:c.269T>C	p.Met90Thr	p.M90T	ENST00000397325	NM_021808.3	90	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS41866.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCATCTCC	NONE	.	.	hmmpanther:PTHR11675:SF28,hmmpanther:PTHR11675	.	.	ENSP00000380488	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000397325	Transcript	.	.	ENSG00000182870	4131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	GALT9_HUMAN	GALNT9	HGNC	F5H557_HUMAN,F5H317_HUMAN	.	UPI000006CCBE	SNV	GALNT9,missense_variant,p.Met90Thr,ENST00000541995,;GALNT9,missense_variant,p.Met90Thr,ENST00000397325,;GALNT9,missense_variant,p.Met229Thr,ENST00000411988,;GALNT9,missense_variant,p.Met90Thr,ENST00000538356,;GALNT9,missense_variant,p.Met456Thr,ENST00000328957,;GALNT9,missense_variant,p.Met207Thr,ENST00000535228,;GALNT9,downstream_gene_variant,,ENST00000542942,;	547	86	46	SUCCESS
DCD	117159	.	GRCh37	12	55038527	55038527	+	synonymous_variant	Silent	SNP	G	G	A	rs373661792	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	142	406	1	ENST00000293371.6:c.303C>T	p.Asp101=	p.D101=	ENST00000293371	NM_053283.2	101	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS8884.1	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACGTCATG	NONE	byFrequency|byCluster	.	Pfam_domain:PF15291	.	A:0.0001	ENSP00000293371	.	5/5	.	.	.	.	.	.	.	.	rs373661792	5/5	PASS	ENST00000293371	Transcript	.	.	ENSG00000161634	14669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCD_HUMAN	DCD	HGNC	.	.	UPI0000001723	SNV	DCD,synonymous_variant,p.%3D,ENST00000293371,;DCD,3_prime_UTR_variant,,ENST00000456047,;DCD,3_prime_UTR_variant,,ENST00000546807,;	493	407	337	SUCCESS
CCDC169-SOHLH2	100526761	.	GRCh37	13	36871924	36871924	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	24	0	ENST00000511166.1:c.-247G>C		p.*83*	ENST00000511166	NM_001198910.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55897.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACCCAGA	NONE	.	38	.	.	.	ENSP00000426174	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000503173	Transcript	.	.	ENSG00000242715	34361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC169_HUMAN	CCDC169	HGNC	.	.	UPI0000227E78	SNV	CCDC169,5_prime_UTR_variant,,ENST00000379864,;CCDC169,5_prime_UTR_variant,,ENST00000510088,;CCDC169-SOHLH2,5_prime_UTR_variant,,ENST00000511166,;SOHLH2,5_prime_UTR_variant,,ENST00000554962,;SPG20,downstream_gene_variant,,ENST00000451493,;CCDC169,upstream_gene_variant,,ENST00000239860,;CCDC169,upstream_gene_variant,,ENST00000503173,;SPG20,downstream_gene_variant,,ENST00000355182,;CCDC169,upstream_gene_variant,,ENST00000491049,;CCDC169,upstream_gene_variant,,ENST00000239859,;SPG20,downstream_gene_variant,,ENST00000438666,;CCDC169,upstream_gene_variant,,ENST00000379862,;CCDC169,non_coding_transcript_exon_variant,,ENST00000471781,;CCDC169,non_coding_transcript_exon_variant,,ENST00000486683,;CCDC169,non_coding_transcript_exon_variant,,ENST00000485600,;CCDC169,non_coding_transcript_exon_variant,,ENST00000477250,;CCDC169,non_coding_transcript_exon_variant,,ENST00000479850,;CCDC169,upstream_gene_variant,,ENST00000506800,;	.	24	26	SUCCESS
SUPT20H	55578	.	GRCh37	13	37586414	37586414	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	90	0	ENST00000350612.6:c.2013C>A	p.Thr671=	p.T671=	ENST00000350612	NM_001014286.2	671	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS31959.1	2013	MUTECT|MUSE	.	TGACTGGTTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3	.	.	ENSP00000218894	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000350612	Transcript	.	.	ENSG00000102710	20596	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,synonymous_variant,p.%3D,ENST00000360252,;SUPT20H,synonymous_variant,p.%3D,ENST00000356185,;SUPT20H,synonymous_variant,p.%3D,ENST00000469488,;SUPT20H,synonymous_variant,p.%3D,ENST00000350612,;SUPT20H,synonymous_variant,p.%3D,ENST00000464744,;SUPT20H,synonymous_variant,p.%3D,ENST00000475892,;EXOSC8,downstream_gene_variant,,ENST00000389704,;EXOSC8,downstream_gene_variant,,ENST00000481013,;EXOSC8,downstream_gene_variant,,ENST00000488779,;EXOSC8,downstream_gene_variant,,ENST00000474661,;EXOSC8,downstream_gene_variant,,ENST00000464235,;SUPT20H,3_prime_UTR_variant,,ENST00000490716,;SUPT20H,3_prime_UTR_variant,,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000473871,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000484078,;EXOSC8,downstream_gene_variant,,ENST00000490537,;EXOSC8,downstream_gene_variant,,ENST00000495092,;EXOSC8,downstream_gene_variant,,ENST00000239893,;SUPT20H,upstream_gene_variant,,ENST00000472948,;	2234	90	61	SUCCESS
NPAS3	64067	.	GRCh37	14	34269678	34269678	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs777051055	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	32	0	ENST00000356141.4:c.2165A>T	p.Asp722Val	p.D722V	ENST00000356141		722	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS53891.1	2165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGACGGCG	NONE	.	.	hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	.	.	ENSP00000348460	.	12/12	.	.	.	.	.	.	.	.	rs777051055	12/12	PASS	ENST00000356141	Transcript	.	.	ENSG00000151322	19311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious_low_confidence(0)	.	NPAS3_HUMAN	NPAS3	HGNC	.	.	UPI00000743C2	SNV	NPAS3,missense_variant,p.Asp692Val,ENST00000548645,;NPAS3,missense_variant,p.Asp727Val,ENST00000551492,;NPAS3,missense_variant,p.Asp696Val,ENST00000551634,;NPAS3,missense_variant,p.Asp690Val,ENST00000346562,;NPAS3,missense_variant,p.Asp709Val,ENST00000357798,;NPAS3,missense_variant,p.Asp722Val,ENST00000356141,;	2165	32	39	SUCCESS
SPATA7	55812	.	GRCh37	14	88857757	88857757	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	67	0	ENST00000393545.4:c.52C>G	p.Pro18Ala	p.P18A	ENST00000393545	NM_018418.4	18	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS9883.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTCCACCG	NONE	.	.	Pfam_domain:PF15244,hmmpanther:PTHR14917	.	.	ENSP00000377176	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000393545	Transcript	.	.	ENSG00000042317	20423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious(0.03)	.	SPAT7_HUMAN	SPATA7	HGNC	.	.	UPI00000712C7	SNV	SPATA7,missense_variant,p.Pro18Ala,ENST00000356583,;SPATA7,missense_variant,p.Pro18Ala,ENST00000045347,;SPATA7,missense_variant,p.Pro18Ala,ENST00000393545,;SPATA7,missense_variant,p.Pro18Ala,ENST00000553885,;SPATA7,missense_variant,p.Pro18Ala,ENST00000556553,;SPATA7,intron_variant,,ENST00000555401,;SPATA7,non_coding_transcript_exon_variant,,ENST00000554102,;SPATA7,missense_variant,p.Pro18Ala,ENST00000553908,;SPATA7,missense_variant,p.Pro18Ala,ENST00000555715,;SPATA7,missense_variant,p.Pro18Ala,ENST00000557248,;SPATA7,missense_variant,p.Pro18Ala,ENST00000556870,;SPATA7,missense_variant,p.Pro18Ala,ENST00000555515,;SPATA7,missense_variant,p.Pro18Ala,ENST00000555534,;SPATA7,3_prime_UTR_variant,,ENST00000555356,;SPATA7,3_prime_UTR_variant,,ENST00000557724,;SPATA7,3_prime_UTR_variant,,ENST00000554168,;SPATA7,non_coding_transcript_exon_variant,,ENST00000553626,;SPATA7,non_coding_transcript_exon_variant,,ENST00000557567,;	341	67	62	SUCCESS
TMEM62	80021	.	GRCh37	15	43444066	43444066	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	107	0	ENST00000260403.2:c.945C>A	p.Ile315=	p.I315=	ENST00000260403	NM_024956.3	315	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS32210.1	945	MUTECT|MUSE	.	CTTATCACCAA	NONE	.	.	hmmpanther:PTHR14795	.	.	ENSP00000260403	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000260403	Transcript	.	.	ENSG00000137842	26269	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM62_HUMAN	TMEM62	HGNC	H3BTT1_HUMAN,H3BPV2_HUMAN	.	UPI00004443FD	SNV	TMEM62,synonymous_variant,p.%3D,ENST00000260403,;TMEM62,synonymous_variant,p.%3D,ENST00000564494,;TMEM62,downstream_gene_variant,,ENST00000564698,;EPB42,intron_variant,,ENST00000570199,;TMEM62,3_prime_UTR_variant,,ENST00000567441,;TMEM62,downstream_gene_variant,,ENST00000569897,;TMEM62,downstream_gene_variant,,ENST00000568182,;TMEM62,downstream_gene_variant,,ENST00000569535,;	1224	107	95	SUCCESS
IL21R	50615	.	GRCh37	16	27460045	27460045	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs550842554	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	10	148	0	ENST00000337929.3:c.1058C>T	p.Pro353Leu	p.P353L	ENST00000337929	NM_181078.2	353	cCg/cTg	0	.	T:0.0008	.	T:0	.	T	P/L	protein_coding	YES	CCDS10630.1	1058	MUTECT|MUSE|VARSCANS	.	CTGGCCGACAG	NONE	by1000G	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	T:0	.	ENSP00000338010	T:0	9/9	.	.	.	.	.	.	.	.	rs550842554	9/9	PASS	ENST00000337929	Transcript	.	T:0.0002	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	T:0	tolerated(0.26)	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.Pro353Leu,ENST00000395755,;IL21R,missense_variant,p.Pro353Leu,ENST00000564089,;IL21R,missense_variant,p.Pro353Leu,ENST00000395754,;IL21R,missense_variant,p.Pro353Leu,ENST00000337929,;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	1531	148	120	SUCCESS
PLEKHG4	25894	.	GRCh37	16	67319052	67319052	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	35	0	ENST00000360461.5:c.2129G>A	p.Gly710Asp	p.G710D	ENST00000360461	NM_001129727.1	710	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32466.1	2129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGTGCCC	NONE	.	.	hmmpanther:PTHR22826:SF110,hmmpanther:PTHR22826	.	.	ENSP00000353646	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000360461	Transcript	.	.	ENSG00000196155	24501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.14)	.	PKHG4_HUMAN	PLEKHG4	HGNC	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN	.	UPI000013C774	SNV	PLEKHG4,missense_variant,p.Gly710Asp,ENST00000360461,;PLEKHG4,missense_variant,p.Gly629Asp,ENST00000450733,;PLEKHG4,missense_variant,p.Gly710Asp,ENST00000379344,;PLEKHG4,missense_variant,p.Gly710Asp,ENST00000427155,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;KCTD19,downstream_gene_variant,,ENST00000304372,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;KCTD19,downstream_gene_variant,,ENST00000562841,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,upstream_gene_variant,,ENST00000569875,;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,intron_variant,,ENST00000393966,;KCTD19,downstream_gene_variant,,ENST00000570049,;KCTD19,downstream_gene_variant,,ENST00000566392,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;PLEKHG4,upstream_gene_variant,,ENST00000567136,;KCTD19,downstream_gene_variant,,ENST00000569333,;	4664	35	51	SUCCESS
TERF2IP	54386	.	GRCh37	16	75681935	75681948	+	frameshift_variant	Frame_Shift_Del	DEL	CCGTGTGCCGAGTG	CCGTGTGCCGAGTG	-	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	CCGTGTGCCGAGTG	CCGTGTGCCGAGTG	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	60	0	ENST00000300086.4:c.156_169del	p.Val53GlyfsTer20	p.V53Gfs*20	ENST00000300086	NM_018975.3	52	aCCGTGTGCCGAGTG/a	0	.	.	.	.	.	-	TVCRV/X	protein_coding	YES	CCDS32491.1	155-168	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGCACCGTGTGCCGAGTGCAGGA	NONE	.	.	hmmpanther:PTHR16466:SF6,hmmpanther:PTHR16466	.	.	ENSP00000300086	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000300086	Transcript	.	.	ENSG00000166848	19246	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TE2IP_HUMAN	TERF2IP	HGNC	.	.	UPI0000136B77	deletion	TERF2IP,frameshift_variant,p.Val53GlyfsTer20,ENST00000300086,;KARS,upstream_gene_variant,,ENST00000319410,;KARS,upstream_gene_variant,,ENST00000568682,;KARS,upstream_gene_variant,,ENST00000568378,;KARS,upstream_gene_variant,,ENST00000570215,;KARS,upstream_gene_variant,,ENST00000302445,;KARS,intron_variant,,ENST00000566560,;TERF2IP,upstream_gene_variant,,ENST00000569234,;KARS,upstream_gene_variant,,ENST00000564578,;KARS,upstream_gene_variant,,ENST00000562875,;KARS,upstream_gene_variant,,ENST00000566249,;	252-265	60	59	SUCCESS
MYH2	4620	.	GRCh37	17	10430110	10430110	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	52	0	ENST00000245503.5:c.3993C>A		p.X1331_splice	ENST00000245503	NM_017534.5	1331	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11156.1	3993	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGGCCTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	.	.	ENSP00000245503	.	30/40	.	.	.	.	.	.	.	.	.	30/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,synonymous_variant,p.%3D,ENST00000245503,;MYH2,synonymous_variant,p.%3D,ENST00000397183,;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	4378	52	56	SUCCESS
FLOT2	2319	.	GRCh37	17	27209141	27209141	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	82	1	ENST00000394908.4:c.694A>G	p.Ile232Val	p.I232V	ENST00000394908	NM_004475.2	232	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS11245.2	694	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTTGATGTTAA	NONE	.	.	hmmpanther:PTHR13806,hmmpanther:PTHR13806:SF17,SMART_domains:SM00244	.	.	ENSP00000378368	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000394908	Transcript	.	.	ENSG00000132589	3758	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.08)	.	FLOT2_HUMAN	FLOT2	HGNC	Q6FG43_HUMAN	.	UPI00001AE777	SNV	FLOT2,missense_variant,p.Ile287Val,ENST00000394906,;FLOT2,missense_variant,p.Ile232Val,ENST00000585169,;FLOT2,missense_variant,p.Ile232Val,ENST00000394908,;FLOT2,missense_variant,p.Ile166Val,ENST00000465427,;FLOT2,non_coding_transcript_exon_variant,,ENST00000577789,;FLOT2,intron_variant,,ENST00000584569,;FLOT2,3_prime_UTR_variant,,ENST00000580805,;FLOT2,3_prime_UTR_variant,,ENST00000586827,;FLOT2,non_coding_transcript_exon_variant,,ENST00000593158,;FLOT2,downstream_gene_variant,,ENST00000582174,;FLOT2,downstream_gene_variant,,ENST00000581509,;FLOT2,downstream_gene_variant,,ENST00000580313,;	799	83	95	SUCCESS
TEX2	55852	.	GRCh37	17	62290608	62290608	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	81	1	ENST00000583097.1:c.970A>G	p.Ser324Gly	p.S324G	ENST00000583097		324	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS11658.1	970	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACTTGAAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000258991	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.08)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Ser324Gly,ENST00000584379,;TEX2,missense_variant,p.Ser324Gly,ENST00000258991,;TEX2,missense_variant,p.Ser324Gly,ENST00000583097,;TEX2,downstream_gene_variant,,ENST00000583922,;TEX2,upstream_gene_variant,,ENST00000583501,;TEX2,downstream_gene_variant,,ENST00000583738,;	1055	82	52	SUCCESS
DNAH17	8632	.	GRCh37	17	76556831	76556831	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	41	1	ENST00000389840.5:c.2022C>T	p.Phe674=	p.F674=	ENST00000389840		674	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	.	2022	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGCTGAAGTT	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08385	.	.	ENSP00000374490	.	13/81	.	.	.	.	.	.	.	.	.	13/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,synonymous_variant,p.%3D,ENST00000585328,;DNAH17,synonymous_variant,p.%3D,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000589793,;	2147	42	72	SUCCESS
ZNF397	84307	.	GRCh37	18	32823230	32823230	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	41	112	0	ENST00000330501.7:c.529T>A	p.Trp177Arg	p.W177R	ENST00000330501	NM_001135178.2	177	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS45852.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTGGAAA	NONE	.	.	hmmpanther:PTHR23226:SF21,hmmpanther:PTHR23226	.	.	ENSP00000331577	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000330501	Transcript	.	.	ENSG00000186812	18818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.35)	.	ZN397_HUMAN	ZNF397	HGNC	M0R288_HUMAN	.	UPI000000D7E4	SNV	ZNF397,missense_variant,p.Trp177Arg,ENST00000261333,;ZNF397,missense_variant,p.Trp177Arg,ENST00000355632,;ZNF397,missense_variant,p.Trp196Arg,ENST00000588119,;ZNF397,missense_variant,p.Trp177Arg,ENST00000585800,;ZNF397,missense_variant,p.Trp177Arg,ENST00000591206,;ZNF397,missense_variant,p.Trp177Arg,ENST00000592264,;ZNF397,missense_variant,p.Trp177Arg,ENST00000330501,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZNF397,non_coding_transcript_exon_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;	682	112	98	SUCCESS
DNMT1	1786	.	GRCh37	19	10248604	10248604	+	synonymous_variant	Silent	SNP	T	T	G	rs764029022	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	52	0	ENST00000340748.4:c.4149A>C	p.Ala1383=	p.A1383=	ENST00000340748		1383	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS45958.1	4197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTGCCGA	BUFFER|p.S1382L|c.4145C>T|3	byFrequency	.	PROSITE_profiles:PS51679,hmmpanther:PTHR10629:SF11,hmmpanther:PTHR10629,Pfam_domain:PF00145,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037404,Superfamily_domains:SSF53335	.	.	ENSP00000352516	.	36/41	.	.	.	.	.	.	.	.	rs764029022	36/41	PASS	ENST00000359526	Transcript	1	.	ENSG00000130816	2976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNMT1_HUMAN	DNMT1	HGNC	K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN	.	UPI000002A823	SNV	DNMT1,synonymous_variant,p.%3D,ENST00000340748,;DNMT1,synonymous_variant,p.%3D,ENST00000540357,;DNMT1,synonymous_variant,p.%3D,ENST00000359526,;DNMT1,downstream_gene_variant,,ENST00000593049,;DNMT1,downstream_gene_variant,,ENST00000589538,;DNMT1,upstream_gene_variant,,ENST00000591798,;DNMT1,synonymous_variant,p.%3D,ENST00000588913,;DNMT1,3_prime_UTR_variant,,ENST00000592705,;DNMT1,non_coding_transcript_exon_variant,,ENST00000589294,;DNMT1,non_coding_transcript_exon_variant,,ENST00000587197,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586588,;DNMT1,downstream_gene_variant,,ENST00000587604,;DNMT1,downstream_gene_variant,,ENST00000589091,;DNMT1,downstream_gene_variant,,ENST00000589351,;DNMT1,downstream_gene_variant,,ENST00000591239,;	4377	52	92	SUCCESS
IL12RB1	3594	.	GRCh37	19	18174687	18174687	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs778430238	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	55	0	ENST00000593993.2:c.1617C>T		p.X539_splice	ENST00000593993	NM_005535.1	539	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS54232.1	1617	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGATGCT	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51	.	.	ENSP00000470788	.	14/18	.	.	.	.	.	.	.	.	rs778430238,COSM1391609	14/18	PASS	ENST00000600835	Transcript	1	.	ENSG00000096996	5971	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	I12R1_HUMAN	IL12RB1	HGNC	M0R382_HUMAN,M0QX06_HUMAN	.	UPI00000502CE	SNV	IL12RB1,synonymous_variant,p.%3D,ENST00000593993,;IL12RB1,synonymous_variant,p.%3D,ENST00000600835,;	1916	55	57	SUCCESS
LGALS7B	653499	.	GRCh37	19	39281456	39281456	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1599978503	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	89	245	0	ENST00000314980.4:c.223C>T	p.Arg75Cys	p.R75C	ENST00000314980	NM_001042507.3	75	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS42565.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGCGGG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00276,SMART_domains:SM00908,Pfam_domain:PF00337,Gene3D:2.60.120.200,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF82,PROSITE_profiles:PS51304	.	.	ENSP00000313571	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314980	Transcript	.	.	ENSG00000178934	34447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LEG7_HUMAN	LGALS7B	HGNC	.	.	UPI000000D9FF	SNV	LGALS7B,missense_variant,p.Arg75Cys,ENST00000314980,;LGALS7B,non_coding_transcript_exon_variant,,ENST00000600304,;	239	245	232	SUCCESS
SPTBN4	57731	.	GRCh37	19	41078287	41078287	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	19	69	0	ENST00000352632.3:c.7536+1G>T		p.X2512_splice	ENST00000352632		2512		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12559.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGTGAGA	NONE	.	.	.	.	.	ENSP00000263373	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	HIGH	35/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,splice_donor_variant,,ENST00000598249,;SPTBN4,splice_donor_variant,,ENST00000352632,;SPTBN4,splice_donor_variant,,ENST00000392025,;SHKBP1,upstream_gene_variant,,ENST00000600718,;SHKBP1,upstream_gene_variant,,ENST00000600733,;SHKBP1,upstream_gene_variant,,ENST00000595631,;SHKBP1,upstream_gene_variant,,ENST00000291842,;SPTBN4,splice_donor_variant,,ENST00000599926,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000593816,;SHKBP1,upstream_gene_variant,,ENST00000600552,;SPTBN4,splice_donor_variant,,ENST00000597389,;SPTBN4,splice_donor_variant,,ENST00000596411,;SPTBN4,splice_donor_variant,,ENST00000595690,;SHKBP1,upstream_gene_variant,,ENST00000597325,;SHKBP1,upstream_gene_variant,,ENST00000598558,;SHKBP1,upstream_gene_variant,,ENST00000599716,;SHKBP1,upstream_gene_variant,,ENST00000599575,;SHKBP1,upstream_gene_variant,,ENST00000595803,;SHKBP1,upstream_gene_variant,,ENST00000594973,;SHKBP1,upstream_gene_variant,,ENST00000595523,;SHKBP1,upstream_gene_variant,,ENST00000595945,;	.	69	74	SUCCESS
ZNF551	90233	.	GRCh37	19	58198707	58198707	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs565427233	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	55	0	ENST00000282296.5:c.1064G>T	p.Arg355Ile	p.R355I	ENST00000282296		355	aGa/aTa	0	.	T:0	.	T:0.0014	.	T	R/I	protein_coding	YES	CCDS12959.2	1064	MUTECT|MUSE	.	CCAGAGAGTTC	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF212,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0	.	ENSP00000282296	T:0	3/3	.	.	.	.	.	.	.	.	rs565427233	3/3	PASS	ENST00000282296	Transcript	.	T:0.0002	ENSG00000204519	25108	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	T:0	deleterious(0.01)	.	ZN551_HUMAN	ZNF551	HGNC	M0R2M4_HUMAN	.	UPI000059D7C6	SNV	ZNF551,missense_variant,p.Arg355Ile,ENST00000282296,;ZNF551,missense_variant,p.Arg327Ile,ENST00000601064,;ZNF551,missense_variant,p.Arg339Ile,ENST00000356715,;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF551,downstream_gene_variant,,ENST00000599402,;	1249	55	65	SUCCESS
CEPT1	10390	.	GRCh37	1	111702018	111702018	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1185046862	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	75	0	ENST00000357172.4:c.356A>G	p.Tyr119Cys	p.Y119C	ENST00000357172	NM_006090.3	119	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS830.1	356	MUTECT|MUSE|VARSCANS	.	GGCATATATTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10414:SF27,hmmpanther:PTHR10414,Pfam_domain:PF01066,PIRSF_domain:PIRSF015665	.	.	ENSP00000441980	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000545121	Transcript	.	.	ENSG00000134255	24289	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.22)	.	CEPT1_HUMAN	CEPT1	HGNC	.	.	UPI0000062325	SNV	CEPT1,missense_variant,p.Tyr119Cys,ENST00000357172,;CEPT1,missense_variant,p.Tyr119Cys,ENST00000545121,;CEPT1,non_coding_transcript_exon_variant,,ENST00000478042,;CEPT1,non_coding_transcript_exon_variant,,ENST00000498239,;CEPT1,non_coding_transcript_exon_variant,,ENST00000476865,;CEPT1,non_coding_transcript_exon_variant,,ENST00000480324,;CEPT1,non_coding_transcript_exon_variant,,ENST00000460443,;	564	75	46	SUCCESS
ZNF687	57592	.	GRCh37	1	151259173	151259173	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs766324441	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	27	67	0	ENST00000324048.5:c.407del	p.Gly136GlufsTer55	p.G136Efs*55	ENST00000324048		136	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS992.1	406	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCCAGGAACT	NONE	.	.	hmmpanther:PTHR24402:SF108,hmmpanther:PTHR24402	.	.	ENSP00000319829	.	3/10	.	.	.	.	.	.	.	.	rs766324441	3/10	PASS	ENST00000324048	Transcript	.	.	ENSG00000143373	29277	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN687_HUMAN	ZNF687	HGNC	.	.	UPI00000721F7	deletion	ZNF687,frameshift_variant,p.Gly145GlufsTer?,ENST00000443959,;ZNF687,frameshift_variant,p.Gly136GlufsTer55,ENST00000324048,;ZNF687,frameshift_variant,p.Gly136GlufsTer55,ENST00000368879,;ZNF687,frameshift_variant,p.Gly136GlufsTer55,ENST00000336715,;RP11-126K1.2,upstream_gene_variant,,ENST00000447795,;ZNF687,upstream_gene_variant,,ENST00000436614,;ZNF687,upstream_gene_variant,,ENST00000426871,;RP11-126K1.2,upstream_gene_variant,,ENST00000494138,;ZNF687,frameshift_variant,p.Gly136GlufsTer55,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	1376	67	118	SUCCESS
CACNA1S	779	.	GRCh37	1	201056982	201056982	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779223763	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	37	91	0	ENST00000362061.3:c.976C>T	p.Leu326Phe	p.L326F	ENST00000362061	NM_000069.2	326	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS1407.1	976	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGGATGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000355192	.	7/44	.	.	.	.	.	.	.	.	rs779223763	7/44	PASS	ENST00000362061	Transcript	.	.	ENSG00000081248	1397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAC1S_HUMAN	CACNA1S	HGNC	Q13062_HUMAN,Q12966_HUMAN	.	UPI000020471D	SNV	CACNA1S,missense_variant,p.Leu326Phe,ENST00000367338,;CACNA1S,missense_variant,p.Leu326Phe,ENST00000362061,;	1203	91	135	SUCCESS
OBSCN	84033	.	GRCh37	1	228509374	228509374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	34	77	0	ENST00000422127.1:c.14832T>A	p.His4944Gln	p.H4944Q	ENST00000422127	NM_001098623.2	4944	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS59204.1	17703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATCACAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	66/116	.	.	.	.	.	.	.	.	.	66/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.His2578Gln,ENST00000366707,;OBSCN,missense_variant,p.His2063Gln,ENST00000366709,;OBSCN,missense_variant,p.His4944Gln,ENST00000284548,;OBSCN,missense_variant,p.His4944Gln,ENST00000422127,;OBSCN,missense_variant,p.His5901Gln,ENST00000570156,;	17777	77	109	SUCCESS
KIAA0754	23499	.	GRCh37	1	39876450	39876450	+	synonymous_variant	Silent	SNP	C	C	T	rs745896343	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	103	229	0	ENST00000530275.1:c.105C>T	p.Ser35=	p.S35=	ENST00000530275	NM_015038.1	35	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	.	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCCAGTTC	NONE	byFrequency	.	.	.	.	ENSP00000431179	.	1/1	.	.	.	.	.	.	.	.	rs745896343	1/1	PASS	ENST00000530275	Transcript	.	.	ENSG00000255103	29111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0754_HUMAN	KIAA0754	HGNC	.	.	UPI0000DD78B2	SNV	KIAA0754,synonymous_variant,p.%3D,ENST00000530275,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;MACF1,upstream_gene_variant,,ENST00000482035,;	300	229	149	SUCCESS
MYH9	4627	.	GRCh37	22	36702652	36702652	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	48	0	ENST00000216181.5:c.1845G>A		p.X615_splice	ENST00000216181	NM_002473.4	615	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS13927.1	1845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCCACTGT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000216181	.	16/41	.	.	.	.	.	.	.	.	.	16/41	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,synonymous_variant,p.%3D,ENST00000216181,;MYH9,upstream_gene_variant,,ENST00000495928,;MYH9,upstream_gene_variant,,ENST00000473022,;	2076	48	54	SUCCESS
SCN9A	6335	.	GRCh37	2	167089924	167089924	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	70	0	ENST00000303354.6:c.3853G>A	p.Gly1285Ser	p.G1285S	ENST00000303354		1285	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS46441.1	3817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCAAGAT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.226)	.	tolerated(0.13)	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,missense_variant,p.Gly1273Ser,ENST00000409672,;SCN9A,missense_variant,p.Gly1285Ser,ENST00000375387,;SCN9A,missense_variant,p.Gly1284Ser,ENST00000409435,;SCN9A,missense_variant,p.Gly1285Ser,ENST00000303354,;AC010127.3,intron_variant,,ENST00000447809,;	4164	70	88	SUCCESS
LRP2	4036	.	GRCh37	2	170058314	170058314	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754025614	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	57	0	ENST00000263816.3:c.8276G>T	p.Arg2759Leu	p.R2759L	ENST00000263816	NM_004525.2	2759	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2232.1	8276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCGGTAA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	44/79	.	.	.	.	.	.	.	.	rs754025614	44/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.532)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Arg2759Leu,ENST00000263816,;	8562	57	43	SUCCESS
HS1BP3	64342	.	GRCh37	2	20838354	20838354	+	synonymous_variant	Silent	SNP	G	G	A	rs570622489	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	59	0	ENST00000304031.3:c.465C>T	p.Gly155=	p.G155=	ENST00000304031	NM_022460.3	155	ggC/ggT	0	.	A:0	.	A:0	.	A	G	protein_coding	YES	CCDS1700.1	465	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGCCATC	NONE	by1000G	.	hmmpanther:PTHR14431:SF0,hmmpanther:PTHR14431	A:0	.	ENSP00000305193	A:0	4/7	.	.	.	.	.	.	.	.	rs570622489	4/7	PASS	ENST00000304031	Transcript	.	A:0.0002	ENSG00000118960	24979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	H1BP3_HUMAN	HS1BP3	HGNC	.	.	UPI000013E92A	SNV	HS1BP3,synonymous_variant,p.%3D,ENST00000304031,;HS1BP3,synonymous_variant,p.%3D,ENST00000402541,;HS1BP3,upstream_gene_variant,,ENST00000458740,;HS1BP3,downstream_gene_variant,,ENST00000406618,;HS1BP3,3_prime_UTR_variant,,ENST00000446825,;	491	59	62	SUCCESS
SP140	11262	.	GRCh37	2	231175476	231175476	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	45	155	1	ENST00000392045.3:c.2193C>A	p.Ile731=	p.I731=	ENST00000392045	NM_007237.4	731	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS42831.1	2193	RADIA|SOMATICSNIPER|VARSCANS	.	TGCATCTTCTG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000375899	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000392045	Transcript	.	.	ENSG00000079263	17133	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SP140_HUMAN	SP140	HGNC	.	.	UPI0000209746	SNV	SP140,synonymous_variant,p.%3D,ENST00000417495,;SP140,synonymous_variant,p.%3D,ENST00000350136,;SP140,synonymous_variant,p.%3D,ENST00000392045,;SP140,synonymous_variant,p.%3D,ENST00000343805,;SP140,synonymous_variant,p.%3D,ENST00000486687,;SP140,synonymous_variant,p.%3D,ENST00000420434,;SP140,non_coding_transcript_exon_variant,,ENST00000479539,;SP140,downstream_gene_variant,,ENST00000486750,;	2307	156	134	SUCCESS
TMEM214	54867	.	GRCh37	2	27257068	27257068	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	84	222	0	ENST00000238788.9:c.285G>A	p.Val95=	p.V95=	ENST00000238788	NM_017727.4	95	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42664.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGGCAAC	NONE	.	.	hmmpanther:PTHR13448	.	.	ENSP00000238788	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000238788	Transcript	.	.	ENSG00000119777	25983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM214_HUMAN	TMEM214	HGNC	B2RD07_HUMAN	.	UPI00003FF926	SNV	TMEM214,synonymous_variant,p.%3D,ENST00000404032,;TMEM214,synonymous_variant,p.%3D,ENST00000238788,;TMEM214,upstream_gene_variant,,ENST00000425720,;TMEM214,upstream_gene_variant,,ENST00000444135,;TMEM214,synonymous_variant,p.%3D,ENST00000321326,;TMEM214,non_coding_transcript_exon_variant,,ENST00000495312,;TMEM214,non_coding_transcript_exon_variant,,ENST00000478980,;TMEM214,upstream_gene_variant,,ENST00000460904,;TMEM214,upstream_gene_variant,,ENST00000435172,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,upstream_gene_variant,,ENST00000475258,;	347	222	197	SUCCESS
CCDC104	0	.	GRCh37	2	55771427	55771427	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs763978612	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	286	100	329	0	ENST00000349456.4:c.849del	p.Met284CysfsTer3	p.M284Cfs*3	ENST00000349456		283	ttG/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS1854.2	849	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAGTTGATGTC	NONE	.	.	hmmpanther:PTHR21532,hmmpanther:PTHR21532:SF0	.	.	ENSP00000295117	.	9/10	.	.	.	.	.	.	.	.	rs763978612	9/10	PASS	ENST00000349456	Transcript	.	.	ENSG00000163001	30540	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC104_HUMAN	CCDC104	HGNC	.	.	UPI000013E20A	deletion	CCDC104,frameshift_variant,p.Met309CysfsTer3,ENST00000339012,;CCDC104,frameshift_variant,p.Met284CysfsTer3,ENST00000349456,;CCDC104,frameshift_variant,p.Met255CysfsTer3,ENST00000407816,;SMEK2,downstream_gene_variant,,ENST00000345102,;SMEK2,downstream_gene_variant,,ENST00000272313,;SMEK2,downstream_gene_variant,,ENST00000407823,;CCDC104,downstream_gene_variant,,ENST00000406691,;CCDC104,non_coding_transcript_exon_variant,,ENST00000490934,;CCDC104,non_coding_transcript_exon_variant,,ENST00000481791,;	997	329	386	SUCCESS
TGOLN2	10618	.	GRCh37	2	85554487	85554487	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs553348456	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	58	122	0	ENST00000409232.3:c.368C>G	p.Thr123Ser	p.T123S	ENST00000409232		123	aCt/aGt	0	.	C:0	.	C:0	.	C	T/S	protein_coding	YES	CCDS56126.1	368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTAGTGCTG	NONE	by1000G	.	hmmpanther:PTHR23211	C:0	.	ENSP00000386443	C:0	2/4	.	.	.	.	.	.	.	.	rs553348456	2/4	PASS	ENST00000409232	Transcript	.	C:0.0002	ENSG00000152291	15450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	C:0.001	tolerated(0.93)	.	.	TGOLN2	HGNC	F8WBK2_HUMAN	.	UPI000020880A	SNV	TGOLN2,missense_variant,p.Thr123Ser,ENST00000398263,;TGOLN2,missense_variant,p.Thr123Ser,ENST00000409232,;TGOLN2,missense_variant,p.Thr123Ser,ENST00000444342,;TGOLN2,missense_variant,p.Thr123Ser,ENST00000409015,;TGOLN2,missense_variant,p.Thr123Ser,ENST00000377386,;TGOLN2,intron_variant,,ENST00000282120,;	430	122	152	SUCCESS
C3orf17	0	.	GRCh37	3	112738541	112738541	+	5_prime_UTR_variant	5'UTR	DEL	C	C	-	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	89	0	ENST00000314400.5:c.-47del		p.*16*	ENST00000314400	NM_015412.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33824.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACGTCCAGCG	NONE	.	.	.	.	.	ENSP00000320251	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000314400	Transcript	.	.	ENSG00000163608	24496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC017_HUMAN	C3orf17	HGNC	C9J9E3_HUMAN,A8MVI8_HUMAN	.	UPI0000367197	deletion	C3orf17,5_prime_UTR_variant,,ENST00000314400,;C3orf17,5_prime_UTR_variant,,ENST00000383675,;C3orf17,upstream_gene_variant,,ENST00000393857,;C3orf17,upstream_gene_variant,,ENST00000472166,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000460707,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000470313,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000496389,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000467342,;C3orf17,upstream_gene_variant,,ENST00000494575,;C3orf17,5_prime_UTR_variant,,ENST00000491121,;C3orf17,5_prime_UTR_variant,,ENST00000494164,;C3orf17,5_prime_UTR_variant,,ENST00000473284,;C3orf17,5_prime_UTR_variant,,ENST00000460410,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,upstream_gene_variant,,ENST00000461381,;C3orf17,upstream_gene_variant,,ENST00000462295,;C3orf17,upstream_gene_variant,,ENST00000496340,;C3orf17,upstream_gene_variant,,ENST00000496206,;GTPBP8,downstream_gene_variant,,ENST00000485330,;C3orf17,upstream_gene_variant,,ENST00000469809,;C3orf17,upstream_gene_variant,,ENST00000494891,;C3orf17,upstream_gene_variant,,ENST00000472637,;C3orf17,upstream_gene_variant,,ENST00000472705,;C3orf17,upstream_gene_variant,,ENST00000469169,;C3orf17,upstream_gene_variant,,ENST00000470663,;C3orf17,upstream_gene_variant,,ENST00000489848,;	146	89	79	SUCCESS
GOLGA4	2803	.	GRCh37	3	37366761	37366761	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	5	271	0	ENST00000361924.2:c.3384T>C	p.Asp1128=	p.D1128=	ENST00000361924	NM_002078.4	1128	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS54564.1	3450	MUTECT|MUSE	.	CAAGATGAAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	.	.	ENSP00000349305	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,synonymous_variant,p.%3D,ENST00000356847,;GOLGA4,synonymous_variant,p.%3D,ENST00000361924,;GOLGA4,synonymous_variant,p.%3D,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,downstream_gene_variant,,ENST00000435830,;GOLGA4,downstream_gene_variant,,ENST00000497537,;GOLGA4,upstream_gene_variant,,ENST00000498250,;	3749	271	143	SUCCESS
PBRM1	55193	.	GRCh37	3	52598082	52598082	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	23	49	0	ENST00000394830.3:c.3784G>A	p.Glu1262Lys	p.E1262K	ENST00000394830	NM_018313.4	1262	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43099.1	3784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCATCAT	NONE	.	.	hmmpanther:PTHR16062	.	.	ENSP00000378307	.	24/30	.	.	.	.	.	.	.	.	COSM1169580	24/30	PASS	ENST00000394830	Transcript	.	.	ENSG00000163939	30064	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.486)	.	deleterious(0)	1	PB1_HUMAN	PBRM1	HGNC	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN	.	UPI000013E31E	SNV	PBRM1,missense_variant,p.Glu1262Lys,ENST00000394830,;PBRM1,missense_variant,p.Glu1287Lys,ENST00000409057,;PBRM1,missense_variant,p.Glu1286Lys,ENST00000423351,;PBRM1,missense_variant,p.Glu1262Lys,ENST00000410007,;PBRM1,missense_variant,p.Glu1255Lys,ENST00000356770,;PBRM1,missense_variant,p.Glu1287Lys,ENST00000296302,;PBRM1,missense_variant,p.Glu1302Lys,ENST00000409767,;PBRM1,missense_variant,p.Glu1287Lys,ENST00000337303,;PBRM1,missense_variant,p.Glu1302Lys,ENST00000409114,;SMIM4,intron_variant,,ENST00000476842,;RNU6ATAC16P,downstream_gene_variant,,ENST00000408591,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	3884	50	33	SUCCESS
SELK	0	.	GRCh37	3	53925935	53925935	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs759160659	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	31	0	ENST00000495461.1:c.-120C>T		p.*40*	ENST00000495461				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54597.1	.	MUTECT|MUSE|VARSCANS	.	ACGAGGACGAA	NONE	.	.	.	.	.	ENSP00000418813	.	1/5	.	.	.	.	.	.	.	.	rs759160659	1/5	PASS	ENST00000495461	Transcript	.	.	ENSG00000113811	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SELK_HUMAN	SELK	Uniprot_gn	A8K0M9_HUMAN	.	UPI0000163E13	SNV	SELK,5_prime_UTR_variant,,ENST00000541726,;SELK,5_prime_UTR_variant,,ENST00000495461,;SELK,upstream_gene_variant,,ENST00000485414,;SELK,upstream_gene_variant,,ENST00000488746,;SELK,upstream_gene_variant,,ENST00000487571,;	81	31	26	SUCCESS
STPG2	285555	.	GRCh37	4	98902341	98902341	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs764605064,rs773798698	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	74	0	ENST00000295268.3:c.741C>G	p.Phe247Leu	p.F247L	ENST00000295268	NM_174952.2	247	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS3645.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGAATCG	NONE	.	.	hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF10	.	.	ENSP00000295268	.	6/11	.	.	.	.	.	.	.	.	rs764605064,rs773798698	6/11	PASS	ENST00000295268	Transcript	.	.	ENSG00000163116	28712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STPG2_HUMAN	STPG2	HGNC	.	.	UPI00000734EC	SNV	STPG2,missense_variant,p.Phe247Leu,ENST00000295268,;	831	74	36	SUCCESS
YTHDC2	64848	.	GRCh37	5	112891817	112891817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	59	153	0	ENST00000161863.4:c.2202A>G	p.Ile734Met	p.I734M	ENST00000161863	NM_022828.3	734	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS4113.1	2202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATACAGCG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Pfam_domain:PF00271,Gene3D:3.40.50.300,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF86,PROSITE_profiles:PS51194	.	.	ENSP00000161863	.	17/30	.	.	.	.	.	.	.	.	.	17/30	PASS	ENST00000161863	Transcript	.	.	ENSG00000047188	24721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.264)	.	tolerated(0.11)	.	YTDC2_HUMAN	YTHDC2	HGNC	D6RA70_HUMAN	.	UPI0000367311	SNV	YTHDC2,missense_variant,p.Ile734Met,ENST00000515883,;YTHDC2,missense_variant,p.Ile734Met,ENST00000161863,;YTHDC2,3_prime_UTR_variant,,ENST00000503857,;	2415	153	254	SUCCESS
ARSI	340075	.	GRCh37	5	149677472	149677472	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149628658	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	6	83	0	ENST00000328668.7:c.1015C>T	p.Arg339Trp	p.R339W	ENST00000328668	NM_001012301.2	339	Cgg/Tgg	0	A:0.0007	A:0.0008	.	A:0	.	A	R/W	protein_coding	YES	CCDS34275.1	1015	MUTECT|MUSE	.	TGTCCGTTGCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	A:0	A:0.0001	ENSP00000333395	A:0	2/2	.	.	.	.	.	.	.	.	rs149628658,COSM3410003	2/2	PASS	ENST00000328668	Transcript	1	A:0.0002	ENSG00000183876	32521	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.941)	A:0	tolerated(0.06)	0,1	ARSI_HUMAN	ARSI	HGNC	D6RDH0_HUMAN	.	UPI000003FD83	SNV	ARSI,missense_variant,p.Arg196Trp,ENST00000515301,;ARSI,missense_variant,p.Arg339Trp,ENST00000328668,;ARSI,downstream_gene_variant,,ENST00000509146,;	1595	83	105	SUCCESS
RNF44	22838	.	GRCh37	5	175959076	175959076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	75	201	0	ENST00000274811.4:c.226G>T	p.Ala76Ser	p.A76S	ENST00000274811	NM_014901.4	76	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS4404.1	226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCAGGAG	NONE	.	.	hmmpanther:PTHR14155:SF79,hmmpanther:PTHR14155	.	.	ENSP00000274811	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000274811	Transcript	.	.	ENSG00000146083	19180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.05)	.	RNF44_HUMAN	RNF44	HGNC	B4DYE0_HUMAN	.	UPI0000073CDA	SNV	RNF44,missense_variant,p.Ala76Ser,ENST00000274811,;RNF44,5_prime_UTR_variant,,ENST00000537487,;RNF44,upstream_gene_variant,,ENST00000506378,;RNF44,downstream_gene_variant,,ENST00000509404,;RNF44,3_prime_UTR_variant,,ENST00000513029,;RNF44,3_prime_UTR_variant,,ENST00000504160,;RNF44,non_coding_transcript_exon_variant,,ENST00000504434,;RNF44,upstream_gene_variant,,ENST00000515051,;RNF44,upstream_gene_variant,,ENST00000508478,;	751	201	251	SUCCESS
FOXD1	2297	.	GRCh37	5	72743607	72743607	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	278	84	265	0	ENST00000499003.3:c.581G>A	p.Gly194Asp	p.G194D	ENST00000499003	NM_004472.2	194	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	.	581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCCCGGG	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF121,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785	.	.	ENSP00000462795	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000499003	Transcript	.	.	ENSG00000251493	3802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	.	FOXD1	HGNC	J3KT45_HUMAN	.	UPI000268B492	SNV	FOXD1,missense_variant,p.Gly194Asp,ENST00000499003,;RP11-79P5.2,downstream_gene_variant,,ENST00000514661,;RP11-79P5.7,upstream_gene_variant,,ENST00000512310,;FOXD1,upstream_gene_variant,,ENST00000513595,;AC099522.1,non_coding_transcript_exon_variant,,ENST00000328926,;	746	265	362	SUCCESS
REV3L	5980	.	GRCh37	6	111714108	111714108	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	85	0	ENST00000358835.3:c.633A>G	p.Leu211=	p.L211=	ENST00000358835		211	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS5091.2	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAATAAAGT	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,synonymous_variant,p.%3D,ENST00000358835,;REV3L,synonymous_variant,p.%3D,ENST00000368802,;REV3L,synonymous_variant,p.%3D,ENST00000368805,;REV3L,synonymous_variant,p.%3D,ENST00000435970,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,non_coding_transcript_exon_variant,,ENST00000460981,;REV3L,upstream_gene_variant,,ENST00000470871,;	1088	85	65	SUCCESS
MYLK4	340156	.	GRCh37	6	2678490	2678490	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	95	0	ENST00000274643.7:c.1004A>C	p.Lys335Thr	p.K335T	ENST00000274643	NM_001012418.3	335	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS34330.1	1004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCTTGGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF119,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000274643	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000274643	Transcript	.	.	ENSG00000145949	27972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.01)	.	MYLK4_HUMAN	MYLK4	HGNC	.	.	UPI00000498AE	SNV	MYLK4,missense_variant,p.Lys335Thr,ENST00000274643,;MYLK4,missense_variant,p.Lys335Thr,ENST00000268446,;	1347	95	88	SUCCESS
ANKS1A	23294	.	GRCh37	6	34950976	34950976	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	103	0	ENST00000360359.3:c.895G>A	p.Ala299Thr	p.A299T	ENST00000360359	NM_015245.2	299	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4798.1	895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGCAGCA	NONE	.	.	hmmpanther:PTHR24174	.	.	ENSP00000353518	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000360359	Transcript	.	.	ENSG00000064999	20961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	tolerated(0.24)	.	ANS1A_HUMAN	ANKS1A	HGNC	.	.	UPI00001C1E4D	SNV	ANKS1A,missense_variant,p.Ala299Thr,ENST00000535627,;ANKS1A,missense_variant,p.Ala299Thr,ENST00000360359,;	1033	103	94	SUCCESS
KLC4	89953	.	GRCh37	6	43034898	43034898	+	intron_variant	Intron	SNP	A	A	G	rs767006609	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	67	0	ENST00000347162.5:c.879+77A>G		p.*293*	ENST00000347162	NM_201521.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4882.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCATCTGC	NONE	byFrequency	.	.	.	.	ENSP00000259708	.	.	.	.	.	.	.	.	.	.	rs767006609	.	PASS	ENST00000259708	Transcript	.	.	ENSG00000137171	21624	.	.	MODIFIER	6/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC4_HUMAN	KLC4	HGNC	C9K0D5_HUMAN,C9JZE5_HUMAN,C9JXT5_HUMAN,C9JQU1_HUMAN	.	UPI000023C3DA	SNV	KLC4,3_prime_UTR_variant,,ENST00000458460,;KLC4,intron_variant,,ENST00000470728,;KLC4,intron_variant,,ENST00000479388,;KLC4,intron_variant,,ENST00000453940,;KLC4,intron_variant,,ENST00000394056,;KLC4,intron_variant,,ENST00000259708,;KLC4,intron_variant,,ENST00000347162,;KLC4,intron_variant,,ENST00000394058,;KLC4,downstream_gene_variant,,ENST00000481888,;KLC4,downstream_gene_variant,,ENST00000479632,;KLC4,intron_variant,,ENST00000469987,;KLC4,intron_variant,,ENST00000467906,;KLC4,downstream_gene_variant,,ENST00000468114,;KLC4,upstream_gene_variant,,ENST00000463063,;KLC4,downstream_gene_variant,,ENST00000481499,;KLC4,downstream_gene_variant,,ENST00000472172,;	.	67	50	SUCCESS
HIPK2	28996	.	GRCh37	7	139281611	139281611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	49	0	ENST00000406875.3:c.2569T>A	p.Cys857Ser	p.C857S	ENST00000406875	NM_022740.4	857	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	.	2569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGGTGA	NONE	.	.	.	.	.	ENSP00000385571	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000406875	Transcript	.	.	ENSG00000064393	14402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.27)	.	HIPK2_HUMAN	HIPK2	HGNC	A4D1R9_HUMAN	.	UPI000012C71E	SNV	HIPK2,missense_variant,p.Cys830Ser,ENST00000428878,;HIPK2,missense_variant,p.Cys857Ser,ENST00000406875,;HIPK2,intron_variant,,ENST00000342645,;	2664	49	55	SUCCESS
ATP6V0E2	155066	.	GRCh37	7	149571165	149571165	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	99	0	ENST00000425642.2:c.11A>G	p.His4Arg	p.H4R	ENST00000425642		4	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS47742.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCACTCAT	NONE	.	.	hmmpanther:PTHR12263,hmmpanther:PTHR12263:SF2	.	.	ENSP00000411672	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000421974	Transcript	.	.	ENSG00000171130	21723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0.01)	.	.	ATP6V0E2	HGNC	E9PAS2_HUMAN	.	UPI00001A844C	SNV	ATP6V0E2,missense_variant,p.His4Arg,ENST00000479613,;ATP6V0E2,missense_variant,p.His4Arg,ENST00000425642,;ATP6V0E2,missense_variant,p.His4Arg,ENST00000464662,;ATP6V0E2,missense_variant,p.His4Arg,ENST00000606024,;ATP6V0E2,missense_variant,p.His53Arg,ENST00000456496,;ATP6V0E2,missense_variant,p.His53Arg,ENST00000421974,;ATP6V0E2-AS1,intron_variant,,ENST00000464939,;ATP6V0E2-AS1,upstream_gene_variant,,ENST00000461019,;ATP6V0E2-AS1,upstream_gene_variant,,ENST00000488315,;ATP6V0E2,upstream_gene_variant,,ENST00000495408,;ATP6V0E2,upstream_gene_variant,,ENST00000490092,;ATP6V0E2,upstream_gene_variant,,ENST00000483478,;ATP6V0E2,missense_variant,p.His4Arg,ENST00000471877,;ATP6V0E2,missense_variant,p.His4Arg,ENST00000464683,;	1109	99	97	SUCCESS
AMZ1	155185	.	GRCh37	7	2752261	2752261	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	72	0	ENST00000312371.4:c.1246C>A	p.Gln416Lys	p.Q416K	ENST00000312371	NM_133463.1	416	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS34589.1	1246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCAGGCC	NONE	.	.	hmmpanther:PTHR32205:SF4,hmmpanther:PTHR32205	.	.	ENSP00000308149	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000312371	Transcript	.	.	ENSG00000174945	22231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.43)	.	AMZ1_HUMAN	AMZ1	HGNC	B4DIY9_HUMAN,A4D202_HUMAN	.	UPI00001C1E77	SNV	AMZ1,missense_variant,p.Gln416Lys,ENST00000312371,;AMZ1,3_prime_UTR_variant,,ENST00000407112,;AMZ1,intron_variant,,ENST00000489665,;AMZ1,downstream_gene_variant,,ENST00000485540,;AMZ1,downstream_gene_variant,,ENST00000480560,;	1614	72	131	SUCCESS
NME8	51314	.	GRCh37	7	37903054	37903054	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	56	0	ENST00000199447.4:c.444T>C	p.Cys148=	p.C148=	ENST00000199447	NM_016616.4	148	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS5452.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTGAAAG	BUFFER|p.Q152*|c.454C>T|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11349:SF45,hmmpanther:PTHR11349	.	.	ENSP00000199447	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000199447	Transcript	.	.	ENSG00000086288	16473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXND3_HUMAN	NME8	HGNC	.	.	UPI00000700CB	SNV	NME8,synonymous_variant,p.%3D,ENST00000440017,;NME8,synonymous_variant,p.%3D,ENST00000199447,;NME8,synonymous_variant,p.%3D,ENST00000444718,;NME8,synonymous_variant,p.%3D,ENST00000455500,;EPDR1,intron_variant,,ENST00000476620,;NME8,intron_variant,,ENST00000426106,;	816	56	52	SUCCESS
CYP11B2	1585	.	GRCh37	8	143996509	143996509	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1351499256	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	51	129	0	ENST00000323110.2:c.548G>A	p.Ser183Asn	p.S183N	ENST00000323110	NM_000498.3	183	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS6393.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCTCCCC	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,missense_variant,p.Ser183Asn,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	551	129	112	SUCCESS
DLGAP2	9228	.	GRCh37	8	1616621	1616621	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200214556	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	5	201	0	ENST00000421627.2:c.1697G>A	p.Arg566His	p.R566H	ENST00000421627	NM_004745.4	566	cGc/cAc	0	A:0.0029	A:0.0008	.	A:0	.	A	R/H	protein_coding	YES	CCDS47760.1	1697	MUTECT|MUSE	.	CAGCCGCGCAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3	A:0	A:0	ENSP00000400258	A:0	6/12	.	.	.	.	.	.	.	.	rs200214556	6/12	PASS	ENST00000421627	Transcript	.	A:0.0006	ENSG00000198010	2906	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.879)	A:0.002	tolerated(0.13)	.	DLGP2_HUMAN	DLGAP2	HGNC	.	.	UPI000021BFBC	SNV	DLGAP2,missense_variant,p.Arg583His,ENST00000520901,;DLGAP2,missense_variant,p.Arg566His,ENST00000421627,;	1831	201	123	SUCCESS
HR	55806	.	GRCh37	8	21984727	21984727	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778987171	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	32	50	0	ENST00000381418.4:c.1228G>T	p.Ala410Ser	p.A410S	ENST00000381418	NM_005144.4	410	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6022.1	1228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCCCGGA	NONE	byFrequency	.	hmmpanther:PTHR12549:SF4,hmmpanther:PTHR12549	.	.	ENSP00000370826	.	3/19	.	.	.	.	.	.	.	.	rs778987171	3/19	PASS	ENST00000381418	Transcript	1	.	ENSG00000168453	5172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.15)	.	HAIR_HUMAN	HR	HGNC	E5RK80_HUMAN	.	UPI000013EB0B	SNV	HR,missense_variant,p.Ala410Ser,ENST00000381418,;HR,missense_variant,p.Ala410Ser,ENST00000312841,;HR,upstream_gene_variant,,ENST00000517699,;HR,downstream_gene_variant,,ENST00000519619,;HR,downstream_gene_variant,,ENST00000518377,;HR,downstream_gene_variant,,ENST00000522759,;HR,upstream_gene_variant,,ENST00000518461,;	2709	50	45	SUCCESS
SVEP1	79987	.	GRCh37	9	113205721	113205721	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	30	0	ENST00000374469.1:c.4570+104G>C		p.*1524*	ENST00000374469				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS48004.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATCTTTGT	NONE	.	.	.	.	.	ENSP00000384917	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODIFIER	27/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,3_prime_UTR_variant,,ENST00000302728,;SVEP1,intron_variant,,ENST00000401783,;SVEP1,intron_variant,,ENST00000374469,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	.	30	22	SUCCESS
C5	727	.	GRCh37	9	123777539	123777539	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	33	0	ENST00000223642.1:c.1997A>G	p.Asp666Gly	p.D666G	ENST00000223642	NM_001735.2	666	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS6826.1	1997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATCTGGT	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83	.	.	ENSP00000223642	.	16/41	.	.	.	.	.	.	.	.	.	16/41	PASS	ENST00000223642	Transcript	.	.	ENSG00000106804	1331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.23)	.	CO5_HUMAN	C5	HGNC	.	.	UPI000013C838	SNV	C5,missense_variant,p.Asp666Gly,ENST00000223642,;	2027	33	31	SUCCESS
C9orf139	0	.	GRCh37	9	139927656	139927656	+	synonymous_variant	Silent	SNP	C	C	T	rs755505362	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	81	0	ENST00000314330.2:c.141C>T	p.Asp47=	p.D47=	ENST00000314330	NM_207511.1	47	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS7023.1	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACCCAGA	NONE	byFrequency	.	.	.	.	ENSP00000318119	.	2/3	.	.	.	.	.	.	.	.	rs755505362	2/3	PASS	ENST00000314330	Transcript	.	.	ENSG00000180539	31426	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI139_HUMAN	C9orf139	HGNC	.	.	UPI00001C0A59	SNV	C9orf139,synonymous_variant,p.%3D,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;FUT7,upstream_gene_variant,,ENST00000314412,;ABCA2,upstream_gene_variant,,ENST00000265662,;RP11-229P13.20,upstream_gene_variant,,ENST00000457302,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	1655	81	75	SUCCESS
PCSK5	5125	.	GRCh37	9	78506025	78506025	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	31	0	ENST00000545128.1:c.-73G>C		p.*25*	ENST00000545128	NM_001190482.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55320.1	.	MUTECT|MUSE	.	GGCCGGAGAAG	NONE	.	.	.	.	.	ENSP00000446280	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000545128	Transcript	.	.	ENSG00000099139	8747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,5_prime_UTR_variant,,ENST00000376767,;PCSK5,5_prime_UTR_variant,,ENST00000376752,;PCSK5,5_prime_UTR_variant,,ENST00000545128,;	466	31	35	SUCCESS
GLRA2	2742	.	GRCh37	X	14549218	14549218	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	31	36	1	ENST00000218075.4:c.68+971A>T		p.*23*	ENST00000218075	NM_002063.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14160.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAATCATCATC	NONE	.	.	.	.	.	ENSP00000218075	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000218075	Transcript	.	.	ENSG00000101958	4327	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GLRA2_HUMAN	GLRA2	HGNC	.	.	UPI000012BA64	SNV	GLRA2,5_prime_UTR_variant,,ENST00000443437,;GLRA2,intron_variant,,ENST00000355020,;GLRA2,intron_variant,,ENST00000218075,;GLRA2,upstream_gene_variant,,ENST00000415367,;	.	37	34	SUCCESS
KDM6A	7403	.	GRCh37	X	44950048	44950048	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	68	108	0	ENST00000377967.4:c.3817del	p.Leu1273PhefsTer19	p.L1273Ffs*19	ENST00000377967	NM_021140.2	1273	Ctt/tt	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS14265.1	3817	VARSCANI*|PINDEL	.	GTTCATCTTTCC	CODON|p.0?|c.1_4206del4206|5	.	.	hmmpanther:PTHR14017:SF9,hmmpanther:PTHR14017,Superfamily_domains:SSF51197	.	.	ENSP00000367203	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000377967	Transcript	.	.	ENSG00000147050	12637	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KDM6A_HUMAN	KDM6A	HGNC	Q68D33_HUMAN,Q59HG3_HUMAN,Q590H7_HUMAN	.	UPI000013DA92	deletion	KDM6A,frameshift_variant,p.Leu916PhefsTer19,ENST00000433797,;KDM6A,frameshift_variant,p.Leu871PhefsTer19,ENST00000414389,;KDM6A,frameshift_variant,p.Leu1194PhefsTer19,ENST00000543216,;KDM6A,frameshift_variant,p.Leu1273PhefsTer19,ENST00000377967,;KDM6A,frameshift_variant,p.Leu1280PhefsTer19,ENST00000382899,;KDM6A,frameshift_variant,p.Leu1228PhefsTer19,ENST00000536777,;KDM6A,upstream_gene_variant,,ENST00000431196,;KDM6A,downstream_gene_variant,,ENST00000484732,;	3858	108	159	SUCCESS
STS	412	.	GRCh37	X	7137667	7137667	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs757933962	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	48	0	ENST00000217961.4:c.-50A>G		p.*17*	ENST00000217961	NM_000351.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14127.1	.	MUTECT|MUSE	.	TTGCAATCTCC	NONE	byFrequency	.	.	.	.	ENSP00000217961	.	1/10	.	.	.	.	.	.	.	.	rs757933962	1/10	PASS	ENST00000217961	Transcript	.	.	ENSG00000101846	11425	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STS_HUMAN	STS	HGNC	.	.	UPI0000136153	SNV	STS,5_prime_UTR_variant,,ENST00000217961,;	171	48	57	SUCCESS
IDI1	3422	.	GRCh37	10	1094891	1094891	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	102	0	ENST00000381344.3:c.53G>T	p.Arg18Leu	p.R18L	ENST00000381344	NM_004508.2	18	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7056.1	53	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCCCGCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000370748	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000381344	Transcript	.	.	ENSG00000067064	5387	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.4)	.	IDI1_HUMAN	IDI1	HGNC	C9JKM8_HUMAN	.	UPI0000231C9C	SNV	IDI1,missense_variant,p.Arg18Leu,ENST00000381344,;IDI1,upstream_gene_variant,,ENST00000427898,;IDI1,upstream_gene_variant,,ENST00000429642,;WDR37,upstream_gene_variant,,ENST00000358220,;IDI2-AS1,downstream_gene_variant,,ENST00000437374,;IDI2-AS1,downstream_gene_variant,,ENST00000428780,;IDI2-AS1,downstream_gene_variant,,ENST00000536039,;IDI1,non_coding_transcript_exon_variant,,ENST00000491735,;IDI1,upstream_gene_variant,,ENST00000482091,;	220	102	66	SUCCESS
IL2RA	3559	.	GRCh37	10	6061870	6061870	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	57	0	ENST00000379959.3:c.618T>C	p.Arg206=	p.R206=	ENST00000379959	NM_000417.2	206	cgT/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS7076.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGACGGCC	BUFFER|p.E204K|c.610G>A|3	.	.	hmmpanther:PTHR10573,hmmpanther:PTHR10573:SF0	.	.	ENSP00000369293	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000379959	Transcript	1	.	ENSG00000134460	6008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL2RA_HUMAN	IL2RA	HGNC	.	.	UPI000012D4A3	SNV	IL2RA,synonymous_variant,p.%3D,ENST00000379954,;IL2RA,synonymous_variant,p.%3D,ENST00000256876,;IL2RA,synonymous_variant,p.%3D,ENST00000379959,;IL2RA,intron_variant,,ENST00000447847,;SNORA14,upstream_gene_variant,,ENST00000516113,;	792	57	58	SUCCESS
KAT6B	23522	.	GRCh37	10	76789928	76789928	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	72	0	ENST00000287239.4:c.5346T>A	p.Ala1782=	p.A1782=	ENST00000287239	NM_001256468.1	1782	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7345.1	5346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTGAAAT	NONE	.	.	hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615	.	.	ENSP00000287239	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	SNV	KAT6B,synonymous_variant,p.%3D,ENST00000372711,;KAT6B,synonymous_variant,p.%3D,ENST00000372714,;KAT6B,synonymous_variant,p.%3D,ENST00000372725,;KAT6B,synonymous_variant,p.%3D,ENST00000372724,;KAT6B,synonymous_variant,p.%3D,ENST00000287239,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;KAT6B,downstream_gene_variant,,ENST00000490365,;	5835	72	59	SUCCESS
CDHR1	92211	.	GRCh37	10	85970828	85970828	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	31	142	0	ENST00000372117.3:c.1392C>T	p.Asp464=	p.D464=	ENST00000372117	NM_033100.3	464	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS7372.1	1392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACACCAA	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000361189	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000372117	Transcript	1	.	ENSG00000148600	14550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR1_HUMAN	CDHR1	HGNC	F1T0L2_HUMAN	.	UPI0000161C2F	SNV	CDHR1,synonymous_variant,p.%3D,ENST00000372117,;CDHR1,synonymous_variant,p.%3D,ENST00000332904,;CDHR1,intron_variant,,ENST00000440770,;CDHR1,upstream_gene_variant,,ENST00000459673,;	1495	142	119	SUCCESS
NPAT	4863	.	GRCh37	11	108047094	108047094	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	62	0	ENST00000278612.8:c.1011A>T	p.Thr337=	p.T337=	ENST00000278612	NM_002519.2	337	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41710.1	1011	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTGTTTT	NONE	.	.	hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087	.	.	ENSP00000278612	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000278612	Transcript	.	.	ENSG00000149308	7896	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAT_HUMAN	NPAT	HGNC	.	.	UPI00001FA306	SNV	NPAT,synonymous_variant,p.%3D,ENST00000278612,;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;	1117	62	55	SUCCESS
MUC5AC	4586	.	GRCh37	11	1161279	1161279	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755414645	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	97	0	ENST00000534821.1:c.1454C>T	p.Thr485Ile	p.T485I	ENST00000534821		485	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	.	1454	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGACCTGCC	NONE	byFrequency	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF248,Pfam_domain:PF00094,SMART_domains:SM00216	.	.	ENSP00000435591	.	12/15	.	.	.	.	.	.	.	.	rs755414645	12/15	PASS	ENST00000534821	Transcript	.	.	ENSG00000215182	7515	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	.	MUC5AC	HGNC	Q7LDT3_HUMAN,E9PJ98_HUMAN	.	UPI0000456454	SNV	MUC5AC,missense_variant,p.Thr482Ile,ENST00000356191,;MUC5AC,missense_variant,p.Thr485Ile,ENST00000534821,;	1501	97	55	SUCCESS
CCDC84	0	.	GRCh37	11	118868995	118868995	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	44	167	0	ENST00000334418.1:c.88C>G	p.Leu30Val	p.L30V	ENST00000334418	NM_198489.1	30	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS8405.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCTGAAG	NONE	.	.	hmmpanther:PTHR31198,Pfam_domain:PF14968	.	.	ENSP00000334767	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000334418	Transcript	.	.	ENSG00000186166	30460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	deleterious(0)	.	CCD84_HUMAN	CCDC84	HGNC	.	.	UPI0000192104	SNV	CCDC84,missense_variant,p.Leu30Val,ENST00000334418,;RP11-110I1.12,upstream_gene_variant,,ENST00000526453,;RP11-110I1.12,upstream_gene_variant,,ENST00000582695,;RN7SL529P,downstream_gene_variant,,ENST00000467146,;CCDC84,upstream_gene_variant,,ENST00000580556,;CCDC84,missense_variant,p.Leu30Val,ENST00000526463,;CCDC84,missense_variant,p.Leu30Val,ENST00000532132,;CCDC84,non_coding_transcript_exon_variant,,ENST00000524670,;CCDC84,non_coding_transcript_exon_variant,,ENST00000534656,;RPL23AP64,downstream_gene_variant,,ENST00000469465,;	144	167	133	SUCCESS
C2CD2L	9854	.	GRCh37	11	118978593	118978593	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775703202	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	30	0	ENST00000336702.3:c.142C>T	p.Pro48Ser	p.P48S	ENST00000336702	NM_014807.3	48	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8413.1	142	RADIA|VARSCANS	.	GGGGCCCGGGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21119:SF4,hmmpanther:PTHR21119	.	.	ENSP00000338885	.	1/14	.	.	.	.	.	.	.	.	rs775703202	1/14	PASS	ENST00000336702	Transcript	.	.	ENSG00000172375	29000	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.29)	.	C2C2L_HUMAN	C2CD2L	HGNC	.	.	UPI0000192105	SNV	C2CD2L,missense_variant,p.Pro48Ser,ENST00000336702,;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,upstream_gene_variant,,ENST00000533458,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;	501	30	29	SUCCESS
SORL1	6653	.	GRCh37	11	121492888	121492888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	76	0	ENST00000260197.7:c.6082G>A	p.Asp2028Asn	p.D2028N	ENST00000260197	NM_003105.5	2028	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8436.1	6082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGATGCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000260197	.	45/48	.	.	.	.	.	.	.	.	.	45/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	tolerated(0.09)	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,missense_variant,p.Asp938Asn,ENST00000534286,;SORL1,missense_variant,p.Asp874Asn,ENST00000532694,;SORL1,missense_variant,p.Asp643Asn,ENST00000527934,;SORL1,missense_variant,p.Asp972Asn,ENST00000525532,;SORL1,missense_variant,p.Asp2028Asn,ENST00000260197,;SORL1,non_coding_transcript_exon_variant,,ENST00000524633,;SORL1,upstream_gene_variant,,ENST00000527649,;SORL1,downstream_gene_variant,,ENST00000534754,;SORL1,downstream_gene_variant,,ENST00000528339,;	6211	76	81	SUCCESS
ST14	6768	.	GRCh37	11	130066301	130066301	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs774611637	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	46	0	ENST00000278742.5:c.1181C>G	p.Ala394Gly	p.A394G	ENST00000278742	NM_021978.3	394	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS8487.1	1181	SOMATICSNIPER|VARSCANS	.	GCCTGCGGGCA	NONE	byFrequency	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,PIRSF_domain:PIRSF036370,Gene3D:2.60.120.290,Pfam_domain:PF00431,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,PROSITE_profiles:PS01180	.	.	ENSP00000278742	.	10/19	.	.	.	.	.	.	.	.	rs774611637	10/19	PASS	ENST00000278742	Transcript	.	.	ENSG00000149418	11344	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.115)	.	tolerated(0.37)	.	ST14_HUMAN	ST14	HGNC	Q8WVC1_HUMAN	.	UPI00000012E9	SNV	ST14,missense_variant,p.Ala394Gly,ENST00000278742,;ST14,non_coding_transcript_exon_variant,,ENST00000530376,;ST14,non_coding_transcript_exon_variant,,ENST00000524718,;ST14,non_coding_transcript_exon_variant,,ENST00000530532,;	1599	46	16	SUCCESS
CKAP5	9793	.	GRCh37	11	46817191	46817191	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	141	0	ENST00000529230.1:c.1603A>G	p.Ile535Val	p.I535V	ENST00000529230		535	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31477.1	1603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATGTCCT	NONE	.	.	hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609	.	.	ENSP00000432768	.	13/44	.	.	.	.	.	.	.	.	.	13/44	PASS	ENST00000529230	Transcript	.	.	ENSG00000175216	28959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.42)	.	CKAP5_HUMAN	CKAP5	HGNC	E9PQH5_HUMAN	.	UPI000013F21E	SNV	CKAP5,missense_variant,p.Ile535Val,ENST00000415402,;CKAP5,missense_variant,p.Ile535Val,ENST00000354558,;CKAP5,missense_variant,p.Ile535Val,ENST00000312055,;CKAP5,missense_variant,p.Ile535Val,ENST00000529230,;CKAP5,downstream_gene_variant,,ENST00000532321,;	1650	141	103	SUCCESS
OR51A7	119687	.	GRCh37	11	4929013	4929013	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	29	75	0	ENST00000359350.4:c.414C>A	p.Ser138Arg	p.S138R	ENST00000359350	NM_001004749.1	138	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS31364.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGCAACAG	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF114,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000352305	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359350	Transcript	.	.	ENSG00000176895	15188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.36)	.	O51A7_HUMAN	OR51A7	HGNC	.	.	UPI0000041C23	SNV	OR51A7,missense_variant,p.Ser138Arg,ENST00000359350,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	414	75	84	SUCCESS
OR8H2	390151	.	GRCh37	11	55872871	55872871	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	29	91	0	ENST00000313503.1:c.353T>A	p.Met118Lys	p.M118K	ENST00000313503	NM_001005200.1	118	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS31518.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATGGCCC	BUFFER|p.R122C|c.364C>T|4	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	.	.	ENSP00000323982	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313503	Transcript	.	.	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	deleterious(0)	.	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.Met118Lys,ENST00000313503,;	353	91	103	SUCCESS
KIAA1731	0	.	GRCh37	11	93461979	93461979	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	66	0	ENST00000325212.6:c.7294T>G	p.Phe2432Val	p.F2432V	ENST00000325212		2432	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS44708.1	7294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTTCTTT	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated(0.19)	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,missense_variant,p.Phe444Val,ENST00000531404,;KIAA1731,missense_variant,p.Phe612Val,ENST00000344196,;KIAA1731,missense_variant,p.Phe2432Val,ENST00000325212,;KIAA1731,missense_variant,p.Phe2432Val,ENST00000411936,;KIAA1731,missense_variant,p.Phe612Val,ENST00000531700,;KIAA1731,downstream_gene_variant,,ENST00000529185,;SNORA1,downstream_gene_variant,,ENST00000384107,;MIR1304,downstream_gene_variant,,ENST00000408243,;SNORD5,downstream_gene_variant,,ENST00000459342,;SNORA8,downstream_gene_variant,,ENST00000384574,;SNORA32,downstream_gene_variant,,ENST00000384072,;SNORD6,downstream_gene_variant,,ENST00000365444,;SNORA18,downstream_gene_variant,,ENST00000384416,;SNORA25,downstream_gene_variant,,ENST00000384384,;TAF1D,downstream_gene_variant,,ENST00000546088,;TAF1D,downstream_gene_variant,,ENST00000530089,;TAF1D,downstream_gene_variant,,ENST00000533794,;TAF1D,downstream_gene_variant,,ENST00000527068,;TAF1D,downstream_gene_variant,,ENST00000540232,;TAF1D,downstream_gene_variant,,ENST00000529794,;TAF1D,downstream_gene_variant,,ENST00000393259,;TAF1D,downstream_gene_variant,,ENST00000526015,;TAF1D,downstream_gene_variant,,ENST00000530769,;TAF1D,downstream_gene_variant,,ENST00000323981,;TAF1D,downstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000529900,;TAF1D,downstream_gene_variant,,ENST00000527169,;TAF1D,downstream_gene_variant,,ENST00000534079,;TAF1D,downstream_gene_variant,,ENST00000525928,;	7456	66	49	SUCCESS
CEP57	9702	.	GRCh37	11	95564320	95564320	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs146538238	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	276	102	472	1	ENST00000325542.5:c.1403T>G	p.Leu468Arg	p.L468R	ENST00000325542	NM_001243776.1	468	cTg/cGg	0	A:0.0002	.	.	.	.	G	L/R	protein_coding	YES	CCDS8304.1	1403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTGAGAC	NONE	byCluster	.	hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF11	.	A:0	ENSP00000317902	.	11/11	.	.	.	.	.	.	.	.	rs146538238	11/11	PASS	ENST00000325542	Transcript	.	.	ENSG00000166037	30794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.27)	.	CEP57_HUMAN	CEP57	HGNC	F5H1B0_HUMAN,F5GYW0_HUMAN	.	UPI0000070D0B	SNV	CEP57,missense_variant,p.Leu459Arg,ENST00000541150,;CEP57,missense_variant,p.Leu468Arg,ENST00000325542,;CEP57,missense_variant,p.Leu442Arg,ENST00000325486,;CEP57,missense_variant,p.Leu441Arg,ENST00000537677,;MTMR2,downstream_gene_variant,,ENST00000444541,;MTMR2,downstream_gene_variant,,ENST00000346299,;CEP57,downstream_gene_variant,,ENST00000537093,;MTMR2,downstream_gene_variant,,ENST00000393223,;CEP57,downstream_gene_variant,,ENST00000535224,;MTMR2,downstream_gene_variant,,ENST00000352297,;MTMR2,downstream_gene_variant,,ENST00000409459,;CEP57,3_prime_UTR_variant,,ENST00000540830,;CEP57,3_prime_UTR_variant,,ENST00000539855,;CEP57,non_coding_transcript_exon_variant,,ENST00000538158,;	1641	473	379	SUCCESS
IL31	386653	.	GRCh37	12	122657230	122657230	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	35	144	0	ENST00000377035.1:c.224C>T	p.Pro75Leu	p.P75L	ENST00000377035	NM_001014336.1	75	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS31919.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCAGGGCTG	NONE	.	.	Pfam_domain:PF15209	.	.	ENSP00000366234	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377035	Transcript	.	.	ENSG00000204671	19372	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.51)	.	IL31_HUMAN	IL31	HGNC	.	.	UPI00003BF6FE	SNV	IL31,missense_variant,p.Pro75Leu,ENST00000377035,;LRRC43,intron_variant,,ENST00000537729,;	251	144	120	SUCCESS
UBC	7316	.	GRCh37	12	125397157	125397157	+	synonymous_variant	Silent	SNP	G	G	A	rs767352362	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	58	322	0	ENST00000339647.5:c.1161C>T	p.Thr387=	p.T387=	ENST00000339647	NM_021009.5	387	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9260.1	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGGTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF94,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000441543	.	1/1	.	.	.	.	.	.	.	.	rs767352362	1/1	PASS	ENST00000536769	Transcript	.	.	ENSG00000150991	12468	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBC_HUMAN	UBC	HGNC	Q9UFQ0_HUMAN,Q96C32_HUMAN,Q5PY61_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,J3QS39_HUMAN,J3QKN0_HUMAN,F5H747_HUMAN,F5H6Q2_HUMAN,F5H388_HUMAN,F5H2Z3_HUMAN,F5H265_HUMAN,F5H041_HUMAN,F5GZ39_HUMAN,F5GYU3_HUMAN,F5GXK7_HUMAN,A8CGI2_HUMAN	.	UPI000013DC28	SNV	UBC,synonymous_variant,p.%3D,ENST00000546120,;UBC,synonymous_variant,p.%3D,ENST00000536769,;UBC,synonymous_variant,p.%3D,ENST00000339647,;UBC,intron_variant,,ENST00000538617,;UBC,downstream_gene_variant,,ENST00000546271,;UBC,downstream_gene_variant,,ENST00000542416,;UBC,downstream_gene_variant,,ENST00000540700,;UBC,downstream_gene_variant,,ENST00000541645,;UBC,downstream_gene_variant,,ENST00000535131,;UBC,downstream_gene_variant,,ENST00000541272,;UBC,downstream_gene_variant,,ENST00000535859,;UBC,downstream_gene_variant,,ENST00000540351,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,downstream_gene_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,;	2738	322	247	SUCCESS
C2CD5	9847	.	GRCh37	12	22677545	22677545	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	99	0	ENST00000333957.4:c.462A>C	p.Lys154Asn	p.K154N	ENST00000333957	NM_014802.1	154	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS31758.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCATTTTGG	NONE	.	.	.	.	.	ENSP00000334229	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.51)	.	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,missense_variant,p.Lys154Asn,ENST00000545552,;C2CD5,missense_variant,p.Lys154Asn,ENST00000333957,;C2CD5,missense_variant,p.Lys154Asn,ENST00000542676,;C2CD5,missense_variant,p.Lys154Asn,ENST00000446597,;C2CD5,missense_variant,p.Lys154Asn,ENST00000536386,;C2CD5,missense_variant,p.Lys154Asn,ENST00000396028,;C2CD5,5_prime_UTR_variant,,ENST00000544930,;C2CD5,upstream_gene_variant,,ENST00000544281,;C2CD5,non_coding_transcript_exon_variant,,ENST00000540703,;C2CD5,non_coding_transcript_exon_variant,,ENST00000541310,;C2CD5,upstream_gene_variant,,ENST00000542683,;	718	99	88	SUCCESS
ERBB3	2065	.	GRCh37	12	56474108	56474108	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	47	124	0	ENST00000267101.3:c.24G>A	p.Gln8=	p.Q8=	ENST00000267101	NM_001982.3	8	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS31833.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGGTGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF000619	.	.	ENSP00000267101	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,synonymous_variant,p.%3D,ENST00000549282,;ERBB3,synonymous_variant,p.%3D,ENST00000267101,;ERBB3,synonymous_variant,p.%3D,ENST00000411731,;ERBB3,splice_region_variant,,ENST00000450146,;ERBB3,intron_variant,,ENST00000549061,;ERBB3,upstream_gene_variant,,ENST00000415288,;ERBB3,upstream_gene_variant,,ENST00000549672,;ERBB3,synonymous_variant,p.%3D,ENST00000550869,;ERBB3,synonymous_variant,p.%3D,ENST00000551242,;ERBB3,synonymous_variant,p.%3D,ENST00000551085,;ERBB3,non_coding_transcript_exon_variant,,ENST00000546884,;	464	124	122	SUCCESS
C1R	715	.	GRCh37	12	7187943	7187943	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	35	161	0	ENST00000542285.1:c.1855A>T	p.Thr619Ser	p.T619S	ENST00000542285		619	Acg/Tcg	0	.	.	.	.	.	A	T/S	protein_coding	YES	.	1855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGTGGCCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265:SF78,hmmpanther:PTHR24265,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001155,Superfamily_domains:SSF50494	.	.	ENSP00000438615	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000542285	Transcript	.	.	ENSG00000159403	1246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.073)	.	tolerated(0.06)	.	.	C1R	HGNC	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN	.	UPI00020653A8	SNV	C1R,missense_variant,p.Thr247Ser,ENST00000602480,;C1R,missense_variant,p.Thr619Ser,ENST00000542285,;C1R,missense_variant,p.Thr247Ser,ENST00000602286,;	2005	161	118	SUCCESS
ZIC2	7546	.	GRCh37	13	100634599	100634599	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1214162962	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	444	176	769	2	ENST00000376335.3:c.281C>T	p.Ala94Val	p.A94V	ENST00000376335	NM_007129.3	94	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9495.1	281	RADIA|VARSCANS	.	CGCTGCGGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27	.	.	ENSP00000365514	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376335	Transcript	.	.	ENSG00000043355	12873	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.53)	.	ZIC2_HUMAN	ZIC2	HGNC	.	.	UPI000013C3DC	SNV	ZIC2,missense_variant,p.Ala94Val,ENST00000376335,;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000490085,;ZIC2,upstream_gene_variant,,ENST00000481565,;	574	771	620	SUCCESS
DGKH	160851	.	GRCh37	13	42733407	42733407	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1179848706	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	61	0	ENST00000337343.4:c.628A>G	p.Lys210Glu	p.K210E	ENST00000337343	NM_178009.3	210	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9381.1	628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTAAATTC	BUFFER|p.V72V|c.216G>T|3,BUFFER|p.V208V|c.624G>T|3	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF37,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000337572	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000337343	Transcript	.	.	ENSG00000102780	2854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0.02)	.	DGKH_HUMAN	DGKH	HGNC	.	.	UPI000017DA47	SNV	DGKH,missense_variant,p.Lys74Glu,ENST00000536612,;DGKH,missense_variant,p.Lys74Glu,ENST00000379274,;DGKH,missense_variant,p.Lys210Glu,ENST00000261491,;DGKH,missense_variant,p.Lys210Glu,ENST00000540693,;DGKH,missense_variant,p.Lys210Glu,ENST00000337343,;DGKH,intron_variant,,ENST00000538674,;DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;	649	61	34	SUCCESS
UGGT2	55757	.	GRCh37	13	96600318	96600318	+	synonymous_variant	Silent	SNP	C	C	T	rs376665874	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	368	108	593	2	ENST00000376747.3:c.1473G>A	p.Pro491=	p.P491=	ENST00000376747	NM_020121.3	491	ccG/ccA	0	T:0.0005	.	.	.	.	T	P	protein_coding	YES	CCDS9480.1	1473	RADIA|SOMATICSNIPER|VARSCANS	.	TGGGCCGGATC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11226:SF1,hmmpanther:PTHR11226	.	T:0	ENSP00000365938	.	14/39	.	.	.	.	.	.	.	.	rs376665874	14/39	PASS	ENST00000376747	Transcript	.	.	ENSG00000102595	15664	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UGGG2_HUMAN	UGGT2	HGNC	.	.	UPI00001FC9AA	SNV	UGGT2,synonymous_variant,p.%3D,ENST00000376747,;	1544	595	476	SUCCESS
OR10G2	26534	.	GRCh37	14	22102423	22102423	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	69	294	0	ENST00000542433.1:c.576G>A	p.Leu192=	p.L192=	ENST00000542433	NM_001005466.1	192	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32047.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCAGTCT	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000445383	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000542433	Transcript	.	.	ENSG00000255582	8170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10G2_HUMAN	OR10G2	HGNC	.	.	UPI0000041E5C	SNV	OR10G2,synonymous_variant,p.%3D,ENST00000542433,;	674	294	260	SUCCESS
DHRS1	115817	.	GRCh37	14	24760356	24760356	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs148282342	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	90	0	ENST00000288111.7:c.794G>C	p.Arg265Pro	p.R265P	ENST00000288111	NM_001136050.2	265	cGg/cCg	0	T:0	.	.	.	.	G	R/P	protein_coding	YES	CCDS9623.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCCGAAGG	NONE	byCluster	.	hmmpanther:PTHR24322:SF271,hmmpanther:PTHR24322	.	T:0.0001	ENSP00000288111	.	8/9	.	.	.	.	.	.	.	.	rs148282342	8/9	PASS	ENST00000288111	Transcript	.	.	ENSG00000157379	16445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.13)	.	DHRS1_HUMAN	DHRS1	HGNC	.	.	UPI000000CBD1	SNV	DHRS1,missense_variant,p.Arg265Pro,ENST00000288111,;DHRS1,missense_variant,p.Arg265Pro,ENST00000396813,;DHRS1,non_coding_transcript_exon_variant,,ENST00000559088,;DHRS1,downstream_gene_variant,,ENST00000559483,;DHRS1,3_prime_UTR_variant,,ENST00000558340,;DHRS1,non_coding_transcript_exon_variant,,ENST00000561273,;DHRS1,non_coding_transcript_exon_variant,,ENST00000561281,;DHRS1,non_coding_transcript_exon_variant,,ENST00000561137,;DHRS1,upstream_gene_variant,,ENST00000559084,;	1071	90	85	SUCCESS
C14orf39	317761	.	GRCh37	14	60938440	60938440	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	44	207	1	ENST00000321731.3:c.341A>G	p.Tyr114Cys	p.Y114C	ENST00000321731	NM_174978.2	114	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9746.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATAATCA	NONE	.	.	.	.	.	ENSP00000324920	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.04)	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,missense_variant,p.Tyr85Cys,ENST00000555476,;C14orf39,missense_variant,p.Tyr114Cys,ENST00000321731,;C14orf39,intron_variant,,ENST00000557138,;	501	208	183	SUCCESS
SEL1L	6400	.	GRCh37	14	81943498	81943498	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	37	127	0	ENST00000336735.4:c.2203A>G	p.Met735Val	p.M735V	ENST00000336735	NM_005065.5	735	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS9876.1	2203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATATCAA	NONE	.	.	hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102	.	.	ENSP00000337053	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000336735	Transcript	.	.	ENSG00000071537	10717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.2)	.	SE1L1_HUMAN	SEL1L	HGNC	.	.	UPI0000135746	SNV	SEL1L,missense_variant,p.Met735Val,ENST00000336735,;SEL1L,downstream_gene_variant,,ENST00000554293,;	2320	127	124	SUCCESS
C14orf159	0	.	GRCh37	14	91655488	91655496	+	inframe_deletion	In_Frame_Del	DEL	AGATTGTTG	AGATTGTTG	-	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	AGATTGTTG	AGATTGTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	57	6	109	0	ENST00000518868.1:c.1170_1178del	p.Ile391_Glu393del	p.I391_E393del	ENST00000518868	NM_001286470.1	390	aAGATTGTTGaa/aaa	0	.	.	.	.	.	-	KIVE/K	protein_coding	YES	CCDS41979.1	1169-1177	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCAGAAGATTGTTGAAGAT	NONE	.	.	PIRSF_domain:PIRSF037204,Pfam_domain:PF14336,hmmpanther:PTHR32022	.	.	ENSP00000428263	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000518868	Transcript	.	.	ENSG00000133943	20498	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CN159_HUMAN	C14orf159	HGNC	E5RK56_HUMAN,E5RK14_HUMAN,E5RJD1_HUMAN,E5RJ87_HUMAN,E5RJ62_HUMAN,E5RIU5_HUMAN,E5RIL4_HUMAN,E5RHG2_HUMAN,E5RGP9_HUMAN,E5RFT5_HUMAN	.	UPI000000CC60	deletion	C14orf159,inframe_deletion,p.Ile386_Glu388del,ENST00000523816,;C14orf159,inframe_deletion,p.Ile386_Glu388del,ENST00000428926,;C14orf159,inframe_deletion,p.Ile386_Glu388del,ENST00000522322,;C14orf159,inframe_deletion,p.Ile386_Glu388del,ENST00000523771,;C14orf159,inframe_deletion,p.Ile391_Glu393del,ENST00000518868,;C14orf159,inframe_deletion,p.Ile391_Glu393del,ENST00000517518,;C14orf159,inframe_deletion,p.Ile391_Glu393del,ENST00000521077,;C14orf159,inframe_deletion,p.Ile374_Glu376del,ENST00000520328,;C14orf159,inframe_deletion,p.Ile391_Glu393del,ENST00000256324,;C14orf159,inframe_deletion,p.Ile262_Glu264del,ENST00000525393,;C14orf159,inframe_deletion,p.Ile391_Glu393del,ENST00000412671,;C14orf159,upstream_gene_variant,,ENST00000557303,;C14orf159,inframe_deletion,p.Ile376_Glu378del,ENST00000523461,;C14orf159,inframe_deletion,p.Ile267_Glu269del,ENST00000517306,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;C14orf159,downstream_gene_variant,,ENST00000519994,;	1859-1867	109	63	SUCCESS
TM2D3	80213	.	GRCh37	15	102190571	102190571	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	11	0	ENST00000333202.3:c.170-207T>C		p.*57*	ENST00000333202	NM_078474.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10393.1	.	MUTECT|MUSE	.	CTTGTAAAACA	NONE	.	.	.	.	.	ENSP00000330433	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333202	Transcript	.	.	ENSG00000184277	24128	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM2D3_HUMAN	TM2D3	HGNC	B3KT51_HUMAN	.	UPI00001B02BE	SNV	TM2D3,5_prime_UTR_variant,,ENST00000561373,;TM2D3,intron_variant,,ENST00000428002,;TM2D3,intron_variant,,ENST00000347970,;TM2D3,intron_variant,,ENST00000333202,;TM2D3,intron_variant,,ENST00000559107,;TM2D3,upstream_gene_variant,,ENST00000558129,;TARSL2,downstream_gene_variant,,ENST00000335968,;RNU6-807P,upstream_gene_variant,,ENST00000516805,;TM2D3,intron_variant,,ENST00000560212,;TARSL2,downstream_gene_variant,,ENST00000559492,;TM2D3,intron_variant,,ENST00000558677,;TM2D3,intron_variant,,ENST00000560910,;TM2D3,intron_variant,,ENST00000560013,;TM2D3,intron_variant,,ENST00000559024,;TARSL2,downstream_gene_variant,,ENST00000558533,;TM2D3,downstream_gene_variant,,ENST00000561356,;TARSL2,downstream_gene_variant,,ENST00000539112,;TM2D3,upstream_gene_variant,,ENST00000559891,;	.	11	8	SUCCESS
GABRG3	2567	.	GRCh37	15	27778000	27778000	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	29	103	0	ENST00000333743.6:c.1377C>A	p.Val459=	p.V459=	ENST00000333743	NM_033223.4	459	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45195.1	1377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCTACTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF195,hmmpanther:PTHR18945,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000331912	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,synonymous_variant,p.%3D,ENST00000333743,;GABRG3,downstream_gene_variant,,ENST00000451330,;RP11-100M12.3,intron_variant,,ENST00000556642,;RP11-100M12.3,downstream_gene_variant,,ENST00000557170,;	1631	103	88	SUCCESS
SPTBN5	51332	.	GRCh37	15	42154463	42154463	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	34	0	ENST00000320955.6:c.7413A>T	p.Gln2471His	p.Q2471H	ENST00000320955	NM_016642.3	2471	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS61599.1	7413	MUTECT|MUSE|VARSCANS	.	TGAGCTTGGTG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,Pfam_domain:PF00435	.	.	ENSP00000317790	.	44/68	.	.	.	.	.	.	.	.	.	44/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.896)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Gln2471His,ENST00000320955,;MIR4310,downstream_gene_variant,,ENST00000582950,;	7641	34	34	SUCCESS
SPTBN5	51332	.	GRCh37	15	42174259	42174259	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	2	19	0	ENST00000320955.6:c.2332G>C	p.Ala778Pro	p.A778P	ENST00000320955	NM_016642.3	778	Gcg/Ccg	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS61599.1	2332	MUTECT|MUSE	.	GGCCGCCTGGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000317790	.	12/68	.	.	.	.	.	.	.	.	.	12/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.653)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Ala778Pro,ENST00000320955,;	2560	19	13	SUCCESS
CA12	771	.	GRCh37	15	63632640	63632640	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	30	128	0	ENST00000178638.3:c.594G>A	p.Gln198=	p.Q198=	ENST00000178638	NM_001218.3	198	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS10185.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTGGCC	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF19,hmmpanther:PTHR18952,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000178638	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000178638	Transcript	1	.	ENSG00000074410	1371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH12_HUMAN	CA12	HGNC	.	.	UPI0000035CDD	SNV	CA12,synonymous_variant,p.%3D,ENST00000344366,;CA12,synonymous_variant,p.%3D,ENST00000422263,;CA12,synonymous_variant,p.%3D,ENST00000178638,;CA12,non_coding_transcript_exon_variant,,ENST00000558287,;	1035	128	116	SUCCESS
LOXL1	4016	.	GRCh37	15	74219803	74219803	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1318493338	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	97	0	ENST00000261921.7:c.679C>T	p.Pro227Ser	p.P227S	ENST00000261921	NM_005576.2	227	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10253.1	679	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCCCTAC	NONE	.	.	hmmpanther:PTHR19331:SF4,hmmpanther:PTHR19331	.	.	ENSP00000261921	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000261921	Transcript	1	.	ENSG00000129038	6665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.09)	.	LOXL1_HUMAN	LOXL1	HGNC	.	.	UPI000013D224	SNV	LOXL1,missense_variant,p.Pro227Ser,ENST00000261921,;LOXL1-AS1,intron_variant,,ENST00000564963,;LOXL1-AS1,intron_variant,,ENST00000565756,;LOXL1-AS1,intron_variant,,ENST00000562965,;LOXL1-AS1,intron_variant,,ENST00000564194,;LOXL1-AS1,intron_variant,,ENST00000565416,;LOXL1-AS1,intron_variant,,ENST00000568087,;LOXL1-AS1,intron_variant,,ENST00000566675,;LOXL1-AS1,intron_variant,,ENST00000567257,;LOXL1-AS1,intron_variant,,ENST00000562739,;LOXL1-AS1,upstream_gene_variant,,ENST00000567644,;LOXL1-AS1,upstream_gene_variant,,ENST00000562130,;LOXL1-AS1,upstream_gene_variant,,ENST00000568229,;LOXL1,missense_variant,p.Pro227Ser,ENST00000566011,;	1005	97	68	SUCCESS
ULK3	25989	.	GRCh37	15	75130667	75130667	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	33	198	0	ENST00000440863.2:c.1186G>T	p.Glu396Ter	p.E396*	ENST00000440863	NM_001099436.1	396	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS45305.1	1186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24348,Gene3D:1.20.58.280,Pfam_domain:PF04212,SMART_domains:SM00745,Superfamily_domains:SSF116846	.	.	ENSP00000400312	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000440863	Transcript	.	.	ENSG00000140474	19703	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ULK3_HUMAN	ULK3	HGNC	B4DDG2_HUMAN	.	UPI0000DD82B4	SNV	ULK3,stop_gained,p.Glu396Ter,ENST00000569437,;ULK3,stop_gained,p.Glu407Ter,ENST00000568667,;ULK3,stop_gained,p.Glu396Ter,ENST00000440863,;ULK3,3_prime_UTR_variant,,ENST00000568273,;ULK3,3_prime_UTR_variant,,ENST00000568210,;ULK3,3_prime_UTR_variant,,ENST00000566631,;ULK3,non_coding_transcript_exon_variant,,ENST00000561725,;ULK3,non_coding_transcript_exon_variant,,ENST00000570276,;ULK3,non_coding_transcript_exon_variant,,ENST00000566479,;ULK3,intron_variant,,ENST00000567472,;ULK3,intron_variant,,ENST00000565881,;ULK3,downstream_gene_variant,,ENST00000564767,;ULK3,downstream_gene_variant,,ENST00000562161,;ULK3,downstream_gene_variant,,ENST00000564029,;ULK3,downstream_gene_variant,,ENST00000565790,;ULK3,upstream_gene_variant,,ENST00000568718,;ULK3,downstream_gene_variant,,ENST00000562395,;ULK3,downstream_gene_variant,,ENST00000565011,;ULK3,downstream_gene_variant,,ENST00000563301,;ULK3,downstream_gene_variant,,ENST00000565373,;ULK3,downstream_gene_variant,,ENST00000569813,;ULK3,downstream_gene_variant,,ENST00000568679,;	1278	198	132	SUCCESS
COQ7	10229	.	GRCh37	16	19083318	19083318	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1416114529	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	31	210	0	ENST00000321998.5:c.142G>A	p.Ala48Thr	p.A48T	ENST00000321998	NM_016138.4	48	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS10574.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGCTGTG	NONE	.	.	hmmpanther:PTHR11237,Pfam_domain:PF03232	.	.	ENSP00000322316	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000321998	Transcript	.	.	ENSG00000167186	2244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	COQ7_HUMAN	COQ7	HGNC	H3BTN8_HUMAN,H3BSZ3_HUMAN	.	UPI000006D56A	SNV	COQ7,missense_variant,p.Ala10Thr,ENST00000544894,;COQ7,missense_variant,p.Ala10Thr,ENST00000566110,;COQ7,missense_variant,p.Ala48Thr,ENST00000321998,;COQ7,missense_variant,p.Ala48Thr,ENST00000568985,;COQ7,missense_variant,p.Ala25Thr,ENST00000569127,;COQ7,missense_variant,p.Ala10Thr,ENST00000561858,;RP11-626G11.5,upstream_gene_variant,,ENST00000568971,;RP11-626G11.5,upstream_gene_variant,,ENST00000576433,;RP11-626G11.5,upstream_gene_variant,,ENST00000567047,;RP11-626G11.5,upstream_gene_variant,,ENST00000571934,;COQ7,missense_variant,p.Ala48Thr,ENST00000566049,;COQ7,missense_variant,p.Ala48Thr,ENST00000569312,;COQ7,non_coding_transcript_exon_variant,,ENST00000564746,;	208	210	129	SUCCESS
TNRC6A	27327	.	GRCh37	16	24788563	24788563	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs367544720	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	101	1	ENST00000395799.3:c.473T>C	p.Ile158Thr	p.I158T	ENST00000395799	NM_014494.2	158	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS10624.2	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTATAGCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28	.	.	ENSP00000379144	.	5/25	.	.	.	.	.	.	.	.	rs367544720	5/25	PASS	ENST00000395799	Transcript	.	.	ENSG00000090905	11969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	tolerated(0.18)	.	TNR6A_HUMAN	TNRC6A	HGNC	G8JLL8_HUMAN	.	UPI000059D33E	SNV	TNRC6A,missense_variant,p.Ile158Thr,ENST00000395799,;TNRC6A,missense_variant,p.Ile158Thr,ENST00000315183,;TNRC6A,downstream_gene_variant,,ENST00000562829,;TNRC6A,upstream_gene_variant,,ENST00000491718,;	602	103	76	SUCCESS
SRCAP	10847	.	GRCh37	16	30745076	30745076	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	120	0	ENST00000262518.4:c.6451C>T	p.Arg2151Cys	p.R2151C	ENST00000262518	NM_006662.2	2151	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS10689.2	6451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCGCTGT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000262518	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Arg2151Cys,ENST00000262518,;SRCAP,missense_variant,p.Arg1993Cys,ENST00000344771,;SRCAP,missense_variant,p.Arg2089Cys,ENST00000395059,;SRCAP,missense_variant,p.Arg1974Cys,ENST00000380361,;SRCAP,upstream_gene_variant,,ENST00000474008,;	6836	120	93	SUCCESS
TMEM8A	0	.	GRCh37	16	422023	422023	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	86	0	ENST00000431232.2:c.2280C>T	p.Cys760=	p.C760=	ENST00000431232	NM_021259.2	760	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS10407.1	2280	MUTECT|MUSE	.	TTCTTGCAGAT	NONE	.	.	hmmpanther:PTHR14319:SF7,hmmpanther:PTHR14319	.	.	ENSP00000401338	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000431232	Transcript	.	.	ENSG00000129925	17205	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM8A_HUMAN	TMEM8A	HGNC	K4DI83_HUMAN,C9J8D7_HUMAN	.	UPI000013CCD4	SNV	TMEM8A,synonymous_variant,p.%3D,ENST00000250930,;TMEM8A,synonymous_variant,p.%3D,ENST00000424078,;TMEM8A,synonymous_variant,p.%3D,ENST00000431232,;MRPL28,upstream_gene_variant,,ENST00000447696,;MRPL28,upstream_gene_variant,,ENST00000450882,;TMEM8A,downstream_gene_variant,,ENST00000448854,;MRPL28,upstream_gene_variant,,ENST00000429738,;MRPL28,upstream_gene_variant,,ENST00000389675,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000199706,;TMEM8A,downstream_gene_variant,,ENST00000427313,;MRPL28,upstream_gene_variant,,ENST00000483764,;TMEM8A,downstream_gene_variant,,ENST00000467452,;MRPL28,upstream_gene_variant,,ENST00000469744,;MRPL28,upstream_gene_variant,,ENST00000481453,;TMEM8A,downstream_gene_variant,,ENST00000475348,;MRPL28,upstream_gene_variant,,ENST00000461550,;	2441	86	42	SUCCESS
TMEM8A	0	.	GRCh37	16	422038	422038	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	81	0	ENST00000431232.2:c.2265C>A	p.Cys755Ter	p.C755*	ENST00000431232	NM_021259.2	755	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS10407.1	2265	RADIA|MUTECT|MUSE	.	TAGTGGCAGGG	NONE	.	.	hmmpanther:PTHR14319:SF7,hmmpanther:PTHR14319	.	.	ENSP00000401338	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000431232	Transcript	.	.	ENSG00000129925	17205	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMM8A_HUMAN	TMEM8A	HGNC	K4DI83_HUMAN,C9J8D7_HUMAN	.	UPI000013CCD4	SNV	TMEM8A,stop_gained,p.Cys562Ter,ENST00000250930,;TMEM8A,stop_gained,p.Cys223Ter,ENST00000424078,;TMEM8A,stop_gained,p.Cys755Ter,ENST00000431232,;MRPL28,upstream_gene_variant,,ENST00000447696,;MRPL28,upstream_gene_variant,,ENST00000450882,;TMEM8A,downstream_gene_variant,,ENST00000448854,;MRPL28,upstream_gene_variant,,ENST00000429738,;MRPL28,upstream_gene_variant,,ENST00000389675,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000199706,;TMEM8A,downstream_gene_variant,,ENST00000427313,;MRPL28,upstream_gene_variant,,ENST00000483764,;TMEM8A,downstream_gene_variant,,ENST00000467452,;MRPL28,upstream_gene_variant,,ENST00000469744,;MRPL28,upstream_gene_variant,,ENST00000481453,;TMEM8A,downstream_gene_variant,,ENST00000475348,;MRPL28,upstream_gene_variant,,ENST00000461550,;	2426	81	43	SUCCESS
CCDC135	0	.	GRCh37	16	57731869	57731869	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765605875	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	99	0	ENST00000360716.3:c.8T>C	p.Val3Ala	p.V3A	ENST00000360716		3	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10787.1	8	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTCCTGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000353942	.	3/19	.	.	.	.	.	.	.	.	rs765605875	3/19	PASS	ENST00000360716	Transcript	.	.	ENSG00000159625	25289	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	CC135_HUMAN	CCDC135	HGNC	H3BRX1_HUMAN,H3BQY5_HUMAN	.	UPI00001AEB68	SNV	CCDC135,missense_variant,p.Val3Ala,ENST00000336825,;CCDC135,missense_variant,p.Val3Ala,ENST00000394337,;CCDC135,missense_variant,p.Val3Ala,ENST00000569375,;CCDC135,missense_variant,p.Val3Ala,ENST00000360716,;CCDC135,missense_variant,p.Val3Ala,ENST00000563126,;CCDC135,intron_variant,,ENST00000569167,;RP11-405F3.4,non_coding_transcript_exon_variant,,ENST00000563062,;CCDC135,missense_variant,p.Val3Ala,ENST00000564297,;	229	100	75	SUCCESS
ITGAE	3682	.	GRCh37	17	3664397	3664397	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs184355144	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	49	0	ENST00000263087.4:c.508G>A	p.Asp170Asn	p.D170N	ENST00000263087	NM_002208.4	170	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32531.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCGTCTT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF74	.	.	ENSP00000263087	.	6/31	.	.	.	.	.	.	.	.	rs184355144	6/31	PASS	ENST00000263087	Transcript	.	.	ENSG00000083457	6147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.89)	.	ITAE_HUMAN	ITGAE	HGNC	.	.	UPI000049DE2D	SNV	ITGAE,missense_variant,p.Asp170Asn,ENST00000263087,;	607	49	28	SUCCESS
MYBBP1A	10514	.	GRCh37	17	4448109	4448110	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GCCT	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	48	0	ENST00000254718.4:c.2414_2417dup	p.Arg807GlyfsTer90	p.R807Gfs*90	ENST00000254718		806	gcc/gcAGGCc	0	.	.	.	.	.	GCCT	A/AGX	protein_coding	YES	CCDS42238.1	2417-2418	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCCGGGCCTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213,Pfam_domain:PF04931	.	.	ENSP00000370968	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000381556	Transcript	.	.	ENSG00000132382	7546	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MBB1A_HUMAN	MYBBP1A	HGNC	.	.	UPI0000551C8B	insertion	MYBBP1A,frameshift_variant,p.Arg807GlyfsTer90,ENST00000254718,;MYBBP1A,frameshift_variant,p.Arg807GlyfsTer90,ENST00000381556,;MYBBP1A,frameshift_variant,p.Arg727GlyfsTer90,ENST00000573116,;MYBBP1A,intron_variant,,ENST00000573723,;MYBBP1A,intron_variant,,ENST00000572759,;MYBBP1A,downstream_gene_variant,,ENST00000573175,;MYBBP1A,upstream_gene_variant,,ENST00000571368,;MYBBP1A,upstream_gene_variant,,ENST00000574934,;MYBBP1A,upstream_gene_variant,,ENST00000575662,;MYBBP1A,upstream_gene_variant,,ENST00000574167,;MYBBP1A,upstream_gene_variant,,ENST00000574547,;MYBBP1A,downstream_gene_variant,,ENST00000571354,;	2479-2480	48	43	SUCCESS
KCNJ16	3773	.	GRCh37	17	68129150	68129150	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	27	129	0	ENST00000283936.1:c.922C>T	p.His308Tyr	p.H308Y	ENST00000283936	NM_018658.2	308	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS11687.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCCATAGG	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF24,Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	.	.	ENSP00000376438	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392670	Transcript	.	.	ENSG00000153822	6262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.06)	.	IRK16_HUMAN	KCNJ16	HGNC	K7ELL5_HUMAN,K7EKJ4_HUMAN	.	UPI000012D8B3	SNV	KCNJ16,missense_variant,p.His308Tyr,ENST00000283936,;KCNJ16,missense_variant,p.His308Tyr,ENST00000589377,;KCNJ16,missense_variant,p.His308Tyr,ENST00000392671,;KCNJ16,missense_variant,p.His347Tyr,ENST00000586462,;KCNJ16,missense_variant,p.His343Tyr,ENST00000585558,;KCNJ16,missense_variant,p.His308Tyr,ENST00000392670,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000591891,;KCNJ16,downstream_gene_variant,,ENST00000587892,;AC002539.1,upstream_gene_variant,,ENST00000435112,;	1415	129	128	SUCCESS
MPDU1	9526	.	GRCh37	17	7487071	7487071	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs769319941	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	29	0	ENST00000250124.6:c.-110C>T		p.*37*	ENST00000250124	NM_004870.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11115.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCGGGCC	NONE	byFrequency	.	.	.	.	ENSP00000250124	.	1/7	.	.	.	.	.	.	.	.	rs769319941	1/7	PASS	ENST00000250124	Transcript	.	.	ENSG00000129255	7207	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPU1_HUMAN	MPDU1	HGNC	J3KTK8_HUMAN	.	UPI000013CCA4	SNV	MPDU1,5_prime_UTR_variant,,ENST00000582151,;MPDU1,5_prime_UTR_variant,,ENST00000250124,;MPDU1,upstream_gene_variant,,ENST00000581380,;CD68,downstream_gene_variant,,ENST00000380498,;MPDU1,upstream_gene_variant,,ENST00000584378,;SOX15,downstream_gene_variant,,ENST00000538513,;MPDU1,upstream_gene_variant,,ENST00000585217,;SOX15,downstream_gene_variant,,ENST00000250055,;MPDU1,upstream_gene_variant,,ENST00000423172,;CD68,downstream_gene_variant,,ENST00000584180,;MPDU1,upstream_gene_variant,,ENST00000396501,;MPDU1,upstream_gene_variant,,ENST00000579445,;CD68,downstream_gene_variant,,ENST00000250092,;EIF4A1,downstream_gene_variant,,ENST00000582746,;EIF4A1,downstream_gene_variant,,ENST00000293831,;CD68,downstream_gene_variant,,ENST00000584502,;AC113189.5,intron_variant,,ENST00000417897,;AC113189.5,intron_variant,,ENST00000415124,;AC113189.5,upstream_gene_variant,,ENST00000572046,;AC113189.5,upstream_gene_variant,,ENST00000573187,;SNORA67,downstream_gene_variant,,ENST00000581621,;MPDU1,5_prime_UTR_variant,,ENST00000572936,;MPDU1,upstream_gene_variant,,ENST00000571822,;MPDU1,upstream_gene_variant,,ENST00000576066,;MPDU1,upstream_gene_variant,,ENST00000584479,;MPDU1,upstream_gene_variant,,ENST00000577088,;MPDU1,upstream_gene_variant,,ENST00000575256,;MPDU1,upstream_gene_variant,,ENST00000580834,;MPDU1,upstream_gene_variant,,ENST00000576272,;MPDU1,upstream_gene_variant,,ENST00000572719,;MPDU1,upstream_gene_variant,,ENST00000585188,;MPDU1,upstream_gene_variant,,ENST00000580708,;MPDU1,upstream_gene_variant,,ENST00000581886,;MPDU1,upstream_gene_variant,,ENST00000571877,;MPDU1,upstream_gene_variant,,ENST00000359822,;MPDU1,upstream_gene_variant,,ENST00000574558,;MPDU1,upstream_gene_variant,,ENST00000578267,;MPDU1,upstream_gene_variant,,ENST00000572836,;MPDU1,upstream_gene_variant,,ENST00000571391,;MPDU1,upstream_gene_variant,,ENST00000570458,;	107	29	23	SUCCESS
NOL4	8715	.	GRCh37	18	31432918	31432918	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	21	64	0	ENST00000261592.5:c.1805G>A	p.Ser602Asn	p.S602N	ENST00000261592	NM_001198546.1	602	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS11907.2	1805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGACTCAGC	NONE	.	.	hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8	.	.	ENSP00000261592	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000261592	Transcript	.	.	ENSG00000101746	7870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.24)	.	NOL4_HUMAN	NOL4	HGNC	.	.	UPI000059D504	SNV	NOL4,missense_variant,p.Ser602Asn,ENST00000261592,;NOL4,missense_variant,p.Ser500Asn,ENST00000589544,;NOL4,missense_variant,p.Ser386Asn,ENST00000269185,;NOL4,missense_variant,p.Ser528Asn,ENST00000538587,;NOL4,missense_variant,p.Ser317Asn,ENST00000535384,;NOL4,missense_variant,p.Ser383Asn,ENST00000535475,;NOL4,missense_variant,p.Ser522Asn,ENST00000590712,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	2103	64	75	SUCCESS
EPG5	57724	.	GRCh37	18	43496496	43496496	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	99	0	ENST00000282041.5:c.3291G>A	p.Gln1097=	p.Q1097=	ENST00000282041	NM_020964.2	1097	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS11926.2	3291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCCTGAGG	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	18/44	.	.	.	.	.	.	.	.	.	18/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,synonymous_variant,p.%3D,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000586655,;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;EPG5,upstream_gene_variant,,ENST00000587884,;EPG5,upstream_gene_variant,,ENST00000592272,;EPG5,upstream_gene_variant,,ENST00000590884,;	3326	99	50	SUCCESS
DCC	1630	.	GRCh37	18	50278724	50278724	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	31	161	0	ENST00000442544.2:c.392C>G	p.Thr131Arg	p.T131R	ENST00000442544	NM_005215.3	131	aCa/aGa	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS11952.1	392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGACAGCAA	BUFFER|p.R130Q|c.389G>A|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000389140	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.179)	.	deleterious(0)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Thr65Arg,ENST00000582875,;DCC,missense_variant,p.Thr131Arg,ENST00000442544,;DCC,missense_variant,p.Thr99Arg,ENST00000578080,;DCC,5_prime_UTR_variant,,ENST00000412726,;DCC,non_coding_transcript_exon_variant,,ENST00000580024,;DCC,non_coding_transcript_exon_variant,,ENST00000582595,;DCC,non_coding_transcript_exon_variant,,ENST00000579666,;DCC,missense_variant,p.Thr65Arg,ENST00000304775,;DCC,missense_variant,p.Thr64Arg,ENST00000579349,;DCC,missense_variant,p.Thr63Arg,ENST00000581559,;	1008	161	120	SUCCESS
CNN2	1265	.	GRCh37	19	1036446	1036446	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	154	0	ENST00000263097.4:c.539G>A	p.Gly180Asp	p.G180D	ENST00000263097	NM_004368.2	180	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS12053.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGGGCATGA	NONE	.	.	PROSITE_profiles:PS51122,hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47,PROSITE_patterns:PS01052,Pfam_domain:PF00402,Superfamily_domains:SSF47576,Prints_domain:PR00888	.	.	ENSP00000263097	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000263097	Transcript	.	.	ENSG00000064666	2156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.03)	.	CNN2_HUMAN	CNN2	HGNC	.	.	UPI0000127AF5	SNV	CNN2,missense_variant,p.Gly180Asp,ENST00000263097,;CNN2,missense_variant,p.Gly78Asp,ENST00000562075,;CNN2,missense_variant,p.Gly23Asp,ENST00000607102,;CNN2,missense_variant,p.Gly201Asp,ENST00000562958,;CNN2,missense_variant,p.Gly137Asp,ENST00000568865,;CNN2,missense_variant,p.Gly169Asp,ENST00000565096,;CNN2,missense_variant,p.Gly141Asp,ENST00000348419,;ABCA7,upstream_gene_variant,,ENST00000263094,;ABCA7,upstream_gene_variant,,ENST00000524850,;ABCA7,upstream_gene_variant,,ENST00000433129,;ABCA7,upstream_gene_variant,,ENST00000531467,;AC011558.5,downstream_gene_variant,,ENST00000585757,;CNN2,non_coding_transcript_exon_variant,,ENST00000606983,;CNN2,downstream_gene_variant,,ENST00000562015,;CNN2,non_coding_transcript_exon_variant,,ENST00000566695,;CNN2,intron_variant,,ENST00000569352,;CNN2,upstream_gene_variant,,ENST00000564572,;ABCA7,upstream_gene_variant,,ENST00000526885,;ABCA7,upstream_gene_variant,,ENST00000530703,;ABCA7,upstream_gene_variant,,ENST00000525238,;ABCA7,upstream_gene_variant,,ENST00000527496,;	902	154	86	SUCCESS
SLC1A6	6511	.	GRCh37	19	15064996	15064996	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	105	0	ENST00000221742.3:c.1315G>T	p.Ala439Ser	p.A439S	ENST00000221742	NM_005071.2	439	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS12321.1	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGCAATGA	NONE	.	.	hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,PROSITE_patterns:PS00714,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221,Prints_domain:PR00173	.	.	ENSP00000221742	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,missense_variant,p.Ala361Ser,ENST00000600144,;SLC1A6,missense_variant,p.Ala439Ser,ENST00000221742,;SLC1A6,missense_variant,p.Ala375Ser,ENST00000430939,;	1323	105	91	SUCCESS
IFI30	10437	.	GRCh37	19	18288521	18288521	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	A	-	rs202043324	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	24	120	0	ENST00000407280.3:c.639del	p.Lys213AsnfsTer42	p.K213Nfs*42	ENST00000407280	NM_006332.4	213	Aaa/aa	0	.	G:0	.	G:0.0014	.	-	K/X	protein_coding	YES	CCDS46015.1	637	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCAGAAACCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR13234:SF8,hmmpanther:PTHR13234	G:0	.	ENSP00000384886	G:0	6/7	.	.	.	.	.	.	.	.	rs202043324	6/7	PASS	ENST00000407280	Transcript	.	G:0.0002	ENSG00000216490	5398	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	GILT_HUMAN	IFI30	HGNC	M0QZG3_HUMAN	.	UPI0000072A2B	deletion	IFI30,frameshift_variant,p.Lys213AsnfsTer42,ENST00000407280,;IFI30,downstream_gene_variant,,ENST00000597802,;PIK3R2,splice_region_variant,,ENST00000593731,;IFI30,non_coding_transcript_exon_variant,,ENST00000600463,;	812	120	129	SUCCESS
ZNF254	9534	.	GRCh37	19	24270141	24270141	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	7	82	0	ENST00000357002.4:c.30+2T>C		p.X10_splice	ENST00000357002	NM_203282.3	10		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32983.1	.	MUTECT|MUSE|VARSCANS	.	AATGGTGAGAA	NONE	.	.	.	.	.	ENSP00000349494	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357002	Transcript	.	.	ENSG00000213096	13047	.	.	HIGH	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN254_HUMAN	ZNF254	HGNC	F5H2M4_HUMAN	.	UPI0000366DB6	SNV	ZNF254,splice_donor_variant,,ENST00000339642,;ZNF254,splice_donor_variant,,ENST00000357002,;ZNF254,intron_variant,,ENST00000342944,;ZNF254,splice_donor_variant,,ENST00000595187,;ZNF254,splice_donor_variant,,ENST00000594886,;	.	82	84	SUCCESS
URI1	8725	.	GRCh37	19	30505901	30505901	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	34	177	0	ENST00000392271.1:c.1305T>G	p.Val435=	p.V435=	ENST00000392271	NM_003796.3	435	gtT/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS12420.1	1533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTTCTGTT	NONE	.	.	hmmpanther:PTHR15111:SF0,hmmpanther:PTHR15111	.	.	ENSP00000442436	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000542441	Transcript	.	.	ENSG00000105176	13236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RMP_HUMAN	URI1	HGNC	I3NI51_HUMAN,I3L2V7_HUMAN,I3L130_HUMAN,I3L104_HUMAN	.	UPI00001604C8	SNV	URI1,synonymous_variant,p.%3D,ENST00000312051,;URI1,synonymous_variant,p.%3D,ENST00000392271,;URI1,synonymous_variant,p.%3D,ENST00000542441,;URI1,3_prime_UTR_variant,,ENST00000573052,;URI1,intron_variant,,ENST00000360605,;URI1,downstream_gene_variant,,ENST00000575242,;URI1,3_prime_UTR_variant,,ENST00000574110,;	1830	177	133	SUCCESS
ZNF536	9745	.	GRCh37	19	30936438	30936438	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775852776	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	36	136	0	ENST00000355537.3:c.1969C>A	p.Arg657Ser	p.R657S	ENST00000355537	NM_014717.1	657	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS32984.1	1969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCGCAAG	BUFFER|p.R657H|c.1970G>A|3	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,Superfamily_domains:SSF57667	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	rs775852776	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.436)	.	deleterious(0.01)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Arg657Ser,ENST00000585628,;ZNF536,missense_variant,p.Arg657Ser,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	2116	136	115	SUCCESS
NUDT19	390916	.	GRCh37	19	33200280	33200280	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767309152	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	58	0	ENST00000397061.3:c.904A>G	p.Met302Val	p.M302V	ENST00000397061	NM_001105570.1	302	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS42543.1	904	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGATGGTC	NONE	.	.	hmmpanther:PTHR12318,hmmpanther:PTHR12318:SF0	.	.	ENSP00000380251	.	2/3	.	.	.	.	.	.	.	.	rs767309152	2/3	PASS	ENST00000397061	Transcript	.	.	ENSG00000213965	32036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.49)	.	NUD19_HUMAN	NUDT19	HGNC	.	.	UPI00001D819F	SNV	NUDT19,missense_variant,p.Met302Val,ENST00000397061,;	904	58	51	SUCCESS
ATP4A	495	.	GRCh37	19	36042385	36042385	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	94	0	ENST00000262623.3:c.2849C>A	p.Thr950Lys	p.T950K	ENST00000262623	NM_000704.2	950	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS12467.1	2849	MUTECT|MUSE	.	GGCGCGTCTTG	NONE	.	.	Superfamily_domains:0049473,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00689,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	.	.	ENSP00000262623	.	19/22	.	.	.	.	.	.	.	.	COSM318837	19/22	PASS	ENST00000262623	Transcript	.	.	ENSG00000105675	819	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	ATP4A_HUMAN	ATP4A	HGNC	.	.	UPI000016A49B	SNV	ATP4A,missense_variant,p.Thr950Lys,ENST00000262623,;TMEM147,downstream_gene_variant,,ENST00000392205,;TMEM147,downstream_gene_variant,,ENST00000222284,;TMEM147,downstream_gene_variant,,ENST00000392204,;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,;ATP4A,downstream_gene_variant,,ENST00000592767,;TMEM147,downstream_gene_variant,,ENST00000593027,;TMEM147,downstream_gene_variant,,ENST00000599895,;TMEM147,downstream_gene_variant,,ENST00000595467,;TMEM147,downstream_gene_variant,,ENST00000477168,;TMEM147,downstream_gene_variant,,ENST00000595180,;	2878	94	62	SUCCESS
ZNF776	284309	.	GRCh37	19	58258269	58258269	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	92	0	ENST00000317178.5:c.-158G>C		p.*53*	ENST00000317178	NM_173632.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12962.2	.	MUTECT|MUSE	.	AGAAGGTGGAG	NONE	.	.	.	.	.	ENSP00000321812	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000317178	Transcript	.	.	ENSG00000152443	26765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN776_HUMAN	ZNF776	HGNC	B2RN90_HUMAN	.	UPI000022AA12	SNV	ZNF776,5_prime_UTR_variant,,ENST00000317178,;ZNF776,5_prime_UTR_variant,,ENST00000431353,;AC003006.7,intron_variant,,ENST00000594684,;ZNF776,upstream_gene_variant,,ENST00000451849,;ZNF776,non_coding_transcript_exon_variant,,ENST00000473585,;AC003006.7,non_coding_transcript_exon_variant,,ENST00000599221,;	106	92	56	SUCCESS
RP11-417J8.6	0	.	GRCh37	1	142620848	142620848	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs549865801	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	20	0	ENST00000610091.1:n.6636C>T		p.*2212*	ENST00000610091				0	.	A:0.0204	.	A:0.0072	.	A	.	lincRNA	YES	.	.	MUTECT|MUSE	.	ATGAGGCGTGA	NONE	byFrequency|by1000G	.	.	A:0	.	.	A:0	14/14	.	.	.	.	.	.	.	.	rs549865801	14/14	PASS	ENST00000610091	Transcript	.	A:0.0064	ENSG00000203849	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	.	RP11-417J8.6	Clone_based_vega_gene	.	.	.	SNV	RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000369381,;RP11-417J8.6,non_coding_transcript_exon_variant,,ENST00000610091,;RP11-417J8.3,intron_variant,,ENST00000411746,;RP11-417J8.3,intron_variant,,ENST00000426408,;RP11-417J8.3,intron_variant,,ENST00000413650,;RP11-417J8.3,intron_variant,,ENST00000446205,;RP11-417J8.3,intron_variant,,ENST00000400755,;RP11-417J8.3,intron_variant,,ENST00000412092,;	6636	20	22	SUCCESS
LCE2D	353141	.	GRCh37	1	152636736	152636736	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	40	175	0	ENST00000368784.1:c.155C>G	p.Ser52Cys	p.S52C	ENST00000368784	NM_178430.3	52	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS1018.1	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCTGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Pfam_domain:PF14672	.	.	ENSP00000357773	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368784	Transcript	.	.	ENSG00000187223	16518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	LCE2D_HUMAN	LCE2D	HGNC	.	.	UPI00001927D4	SNV	LCE2D,missense_variant,p.Ser52Cys,ENST00000368784,;	210	175	156	SUCCESS
S100A5	6276	.	GRCh37	1	153509857	153509857	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs769167385	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	146	0	ENST00000368717.2:c.194A>G	p.Gln65Arg	p.Q65R	ENST00000368717		65	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS1041.2	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGGTCG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11639:SF65,hmmpanther:PTHR11639,PROSITE_patterns:PS00303,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000357707	.	4/4	.	.	.	.	.	.	.	.	rs769167385	4/4	PASS	ENST00000368718	Transcript	.	.	ENSG00000196420	10495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	tolerated(0.09)	.	S10A5_HUMAN	S100A5	HGNC	.	.	UPI00001353F4	SNV	S100A5,missense_variant,p.Gln65Arg,ENST00000368717,;S100A5,missense_variant,p.Gln65Arg,ENST00000368718,;S100A5,missense_variant,p.Gln83Arg,ENST00000359215,;S100A6,upstream_gene_variant,,ENST00000368719,;S100A6,upstream_gene_variant,,ENST00000496817,;S100A6,upstream_gene_variant,,ENST00000462776,;S100A6,upstream_gene_variant,,ENST00000368720,;BX470102.3,downstream_gene_variant,,ENST00000420695,;S100A6,upstream_gene_variant,,ENST00000462951,;	476	146	113	SUCCESS
SLC50A1	55974	.	GRCh37	1	155108813	155108813	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	249	51	357	1	ENST00000368404.4:c.119A>G	p.Asp40Gly	p.D40G	ENST00000368404	NM_018845.3	40	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1093.1	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGACAACG	NONE	.	.	hmmpanther:PTHR10791,hmmpanther:PTHR10791:SF24,Pfam_domain:PF03083	.	.	ENSP00000357389	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000368404	Transcript	.	.	ENSG00000169241	30657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.2)	.	SWET1_HUMAN	SLC50A1	HGNC	.	.	UPI00000361FB	SNV	SLC50A1,missense_variant,p.Asp40Gly,ENST00000303343,;SLC50A1,missense_variant,p.Asp40Gly,ENST00000368404,;SLC50A1,synonymous_variant,p.%3D,ENST00000368401,;SLC50A1,synonymous_variant,p.%3D,ENST00000484157,;EFNA1,downstream_gene_variant,,ENST00000368406,;EFNA1,downstream_gene_variant,,ENST00000368407,;DPM3,downstream_gene_variant,,ENST00000341298,;DPM3,downstream_gene_variant,,ENST00000368400,;DPM3,downstream_gene_variant,,ENST00000368399,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000465546,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000488609,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000484027,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000475824,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000368405,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000490770,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000490276,;EFNA1,downstream_gene_variant,,ENST00000469878,;SLC50A1,upstream_gene_variant,,ENST00000479579,;EFNA1,downstream_gene_variant,,ENST00000474413,;EFNA1,downstream_gene_variant,,ENST00000497282,;SLC50A1,non_coding_transcript_exon_variant,,ENST00000506037,;	181	358	301	SUCCESS
FCRL3	115352	.	GRCh37	1	157667305	157667305	+	intron_variant	Intron	SNP	G	G	C	rs539447148	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	70	0	ENST00000368184.3:c.560-91C>G		p.*187*	ENST00000368184	NM_052939.3			0	.	A:0	.	A:0	.	C	.	protein_coding	YES	CCDS1167.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGATAGA	NONE	by1000G	.	.	A:0	.	ENSP00000357167	A:0.001	.	.	.	.	.	.	.	.	.	rs539447148	.	PASS	ENST00000368184	Transcript	.	A:0.0002	ENSG00000160856	18506	.	.	MODIFIER	5/14	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,intron_variant,,ENST00000368186,;FCRL3,intron_variant,,ENST00000496769,;FCRL3,intron_variant,,ENST00000368184,;RP11-367J7.3,downstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,intron_variant,,ENST00000494724,;FCRL3,intron_variant,,ENST00000478179,;FCRL3,intron_variant,,ENST00000485028,;FCRL3,intron_variant,,ENST00000477837,;FCRL3,intron_variant,,ENST00000492769,;	.	70	55	SUCCESS
TNN	63923	.	GRCh37	1	175046704	175046704	+	synonymous_variant	Silent	SNP	G	G	A	rs1388007949	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	26	160	0	ENST00000239462.4:c.150G>A	p.Val50=	p.V50=	ENST00000239462	NM_022093.1	50	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30943.1	150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTGCCCAA	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167	.	.	ENSP00000239462	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,synonymous_variant,p.%3D,ENST00000239462,;	263	160	122	SUCCESS
PADI1	29943	.	GRCh37	1	17563875	17563875	+	synonymous_variant	Silent	SNP	C	C	G	rs754710258	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	90	0	ENST00000375471.4:c.1380C>G	p.Pro460=	p.P460=	ENST00000375471	NM_013358.2	460	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS178.1	1380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCGTGGA	NONE	byFrequency	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364620	.	12/16	.	.	.	.	.	.	.	.	rs754710258	12/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,synonymous_variant,p.%3D,ENST00000537499,;PADI1,synonymous_variant,p.%3D,ENST00000413717,;PADI1,synonymous_variant,p.%3D,ENST00000375471,;PADI1,intron_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000460293,;	1472	90	73	SUCCESS
PTPRC	5788	.	GRCh37	1	198725152	198725152	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	231	94	350	0	ENST00000442510.2:c.3763G>T	p.Val1255Leu	p.V1255L	ENST00000442510		1255	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1397.2	3763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAGTAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF002004	.	.	ENSP00000411355	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000442510	Transcript	.	.	ENSG00000081237	9666	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.13)	.	.	PTPRC	HGNC	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN	.	UPI000046FDB4	SNV	PTPRC,missense_variant,p.Val1092Leu,ENST00000594404,;PTPRC,missense_variant,p.Val1094Leu,ENST00000348564,;PTPRC,missense_variant,p.Val1205Leu,ENST00000352140,;PTPRC,missense_variant,p.Val1253Leu,ENST00000367376,;PTPRC,missense_variant,p.Val1255Leu,ENST00000442510,;	3904	350	325	SUCCESS
IL24	11009	.	GRCh37	1	207073658	207073658	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	71	0	ENST00000294984.2:c.259A>T	p.Thr87Ser	p.T87S	ENST00000294984	NM_006850.3	87	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS53465.1	262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCACGAGT	NONE	.	.	hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF9,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266,Prints_domain:PR01937	.	.	ENSP00000375795	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000391929	Transcript	.	.	ENSG00000162892	11346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.29)	.	tolerated(0.07)	.	IL24_HUMAN	IL24	HGNC	.	.	UPI000014F07B	SNV	IL24,missense_variant,p.Thr88Ser,ENST00000367093,;IL24,missense_variant,p.Thr87Ser,ENST00000294984,;IL24,missense_variant,p.Thr88Ser,ENST00000391929,;IL24,synonymous_variant,p.%3D,ENST00000480741,;FAIM3,downstream_gene_variant,,ENST00000420007,;FAIM3,downstream_gene_variant,,ENST00000442471,;FAIM3,downstream_gene_variant,,ENST00000367091,;IL24,non_coding_transcript_exon_variant,,ENST00000491169,;FAIM3,downstream_gene_variant,,ENST00000528654,;IL24,synonymous_variant,p.%3D,ENST00000367095,;FAIM3,downstream_gene_variant,,ENST00000474041,;FAIM3,downstream_gene_variant,,ENST00000463473,;	537	71	66	SUCCESS
ACTN2	88	.	GRCh37	1	236900515	236900515	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	122	0	ENST00000366578.4:c.876+1G>T		p.X292_splice	ENST00000366578	NM_001278344.1	292		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1613.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGTAAAG	NONE	.	.	.	.	.	ENSP00000355537	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366578	Transcript	.	.	ENSG00000077522	164	.	.	HIGH	9/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTN2_HUMAN	ACTN2	HGNC	B7Z4P8_HUMAN	.	UPI0000125088	SNV	ACTN2,splice_donor_variant,,ENST00000542672,;ACTN2,splice_donor_variant,,ENST00000366578,;ACTN2,intron_variant,,ENST00000546208,;ACTN2,splice_donor_variant,,ENST00000492634,;ACTN2,splice_donor_variant,,ENST00000494762,;	.	122	100	SUCCESS
OR13G1	441933	.	GRCh37	1	247835685	247835685	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	29	148	0	ENST00000359688.2:c.659T>C	p.Val220Ala	p.V220A	ENST00000359688	NM_001005487.1	220	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31094.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCAACAATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF237,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000352717	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359688	Transcript	.	.	ENSG00000197437	14999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	O13G1_HUMAN	OR13G1	HGNC	.	.	UPI0000061E5B	SNV	OR13G1,missense_variant,p.Val220Ala,ENST00000359688,;RP11-634B7.4,intron_variant,,ENST00000449298,;OR3D1P,downstream_gene_variant,,ENST00000438288,;	681	148	124	SUCCESS
RCAN3	11123	.	GRCh37	1	24859572	24859572	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs747514066	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	58	0	ENST00000374395.4:c.370-1G>A		p.X124_splice	ENST00000374395	NM_001251984.1	124		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS254.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGGTGCA	NONE	.	.	.	.	.	ENSP00000363516	.	.	.	.	.	.	.	.	.	.	rs747514066	.	PASS	ENST00000374395	Transcript	.	.	ENSG00000117602	3042	.	.	HIGH	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCAN3_HUMAN	RCAN3	HGNC	Q5TGC7_HUMAN,G1FLF0_HUMAN,E5L4P7_HUMAN,E5L4P0_HUMAN,E3VWE2_HUMAN,C8CJH0_HUMAN	.	UPI0000001C4A	SNV	RCAN3,splice_acceptor_variant,,ENST00000374395,;RCAN3,splice_acceptor_variant,,ENST00000538532,;RCAN3,intron_variant,,ENST00000412742,;RCAN3,intron_variant,,ENST00000374393,;RCAN3,intron_variant,,ENST00000436717,;RN7SL857P,upstream_gene_variant,,ENST00000580228,;RCAN3,upstream_gene_variant,,ENST00000482807,;	.	58	66	SUCCESS
RIMKLA	284716	.	GRCh37	1	42875774	42875774	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1257985060	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	6	157	0	ENST00000431473.3:c.601C>T	p.Arg201Trp	p.R201W	ENST00000431473	NM_173642.3	201	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS466.2	601	MUTECT|MUSE	.	ACATCCGGGTG	NONE	.	.	Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR00768,Gene3D:3.30.470.20,Pfam_domain:PF08443,hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF1,PROSITE_profiles:PS50975	.	.	ENSP00000414330	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000431473	Transcript	.	.	ENSG00000177181	28725	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RIMKA_HUMAN	RIMKLA	HGNC	.	.	UPI0000160ABF	SNV	RIMKLA,missense_variant,p.Arg201Trp,ENST00000431473,;RIMKLA,missense_variant,p.Arg77Trp,ENST00000410070,;RP11-157D18.2,downstream_gene_variant,,ENST00000411908,;	730	157	115	SUCCESS
C1orf87	127795	.	GRCh37	1	60521079	60521079	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	35	125	0	ENST00000371201.3:c.139C>T	p.Gln47Ter	p.Q47*	ENST00000371201	NM_152377.2	47	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS614.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGGGTTT	NONE	.	.	.	.	.	ENSP00000360244	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000371201	Transcript	.	.	ENSG00000162598	28547	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA087_HUMAN	C1orf87	HGNC	.	.	UPI000006E066	SNV	C1orf87,stop_gained,p.Gln47Ter,ENST00000371201,;C1orf87,stop_gained,p.Gln47Ter,ENST00000450089,;	247	125	120	SUCCESS
JAK1	3716	.	GRCh37	1	65305399	65305399	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	104	0	ENST00000342505.4:c.2729T>C	p.Leu910Pro	p.L910P	ENST00000342505	NM_002227.2	910	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS41346.1	2729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCAGAGAT	SITE|p.L910P|c.2729T>C|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000343204	.	20/25	.	.	.	.	.	.	.	.	COSM1602623	20/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Leu910Pro,ENST00000342505,;JAK1,non_coding_transcript_exon_variant,,ENST00000481702,;JAK1,downstream_gene_variant,,ENST00000471473,;JAK1,downstream_gene_variant,,ENST00000465376,;	2978	104	103	SUCCESS
MCOLN3	55283	.	GRCh37	1	85510937	85510937	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	83	0	ENST00000370589.2:c.107A>G	p.Asp36Gly	p.D36G	ENST00000370589	NM_018298.10	36	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS701.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTCTTCT	NONE	.	.	hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF5	.	.	ENSP00000359621	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000370589	Transcript	.	.	ENSG00000055732	13358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0)	.	MCLN3_HUMAN	MCOLN3	HGNC	.	.	UPI0000073A4B	SNV	MCOLN3,missense_variant,p.Asp36Gly,ENST00000341115,;MCOLN3,missense_variant,p.Asp36Gly,ENST00000370589,;MCOLN3,missense_variant,p.Asp36Gly,ENST00000370587,;WDR63,intron_variant,,ENST00000370596,;MCOLN3,missense_variant,p.Asp36Gly,ENST00000490600,;	160	83	75	SUCCESS
CDC7	8317	.	GRCh37	1	91985781	91985781	+	synonymous_variant	Silent	SNP	C	C	T	rs1368701219	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	28	180	0	ENST00000234626.6:c.1275C>T	p.Ala425=	p.A425=	ENST00000234626	NM_001134419.1	425	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS734.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCCAAAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF7,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000393139	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000428239	Transcript	.	.	ENSG00000097046	1745	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDC7_HUMAN	CDC7	HGNC	B1AMW7_HUMAN	.	UPI0000127400	SNV	CDC7,synonymous_variant,p.%3D,ENST00000430031,;CDC7,synonymous_variant,p.%3D,ENST00000428239,;CDC7,synonymous_variant,p.%3D,ENST00000234626,;CDC7,non_coding_transcript_exon_variant,,ENST00000486509,;	1534	180	146	SUCCESS
TMEM239	100288797	.	GRCh37	20	2797440	2797440	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	47	0	ENST00000361033.1:c.369A>T	p.Ala123=	p.A123=	ENST00000361033		123	gcA/gcT	0	.	.	.	.	.	T	T/S	protein_coding	YES	.	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCACTCTT	NONE	.	.	.	.	.	ENSP00000369967	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380593	Transcript	.	.	ENSG00000241690	40044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.486)	.	tolerated_low_confidence(0.07)	.	.	TMEM239	Uniprot_gn	Q6ZPB1_HUMAN	.	UPI00001C10E8	SNV	TMEM239,missense_variant,p.Thr171Ser,ENST00000380593,;TMEM239,missense_variant,p.Thr171Ser,ENST00000554164,;TMEM239,synonymous_variant,p.%3D,ENST00000380585,;TMEM239,synonymous_variant,p.%3D,ENST00000361033,;C20orf141,downstream_gene_variant,,ENST00000603872,;C20orf141,downstream_gene_variant,,ENST00000380589,;	594	47	29	SUCCESS
BPI	671	.	GRCh37	20	36954702	36954702	+	synonymous_variant	Silent	SNP	C	C	A	rs1186272537	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	78	0	ENST00000262865.4:c.1041C>A	p.Ile347=	p.I347=	ENST00000262865	NM_001725.2	347	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS13303.1	1041	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGATCCATGT	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF66,Gene3D:1ewfA02,Pfam_domain:PF02886,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	.	ENSP00000262865	.	10/15	.	.	.	.	.	.	.	.	COSM1411682	10/15	PASS	ENST00000262865	Transcript	.	.	ENSG00000101425	1095	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	BPI_HUMAN	BPI	HGNC	B4DKH6_HUMAN	.	UPI000013D349	SNV	BPI,synonymous_variant,p.%3D,ENST00000417318,;BPI,synonymous_variant,p.%3D,ENST00000262865,;CTD-2308N23.2,intron_variant,,ENST00000437016,;BPI,non_coding_transcript_exon_variant,,ENST00000489102,;BPI,downstream_gene_variant,,ENST00000489039,;	1130	79	45	SUCCESS
GTSF1L	149699	.	GRCh37	20	42355615	42355615	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	86	0	ENST00000373003.1:c.-281C>A		p.*94*	ENST00000373003	NM_176791.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13323.1	.	MUTECT|MUSE	.	CAGCCGCTTGA	NONE	.	.	.	.	.	ENSP00000362094	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373003	Transcript	.	.	ENSG00000124196	16198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GTSFL_HUMAN	GTSF1L	HGNC	.	.	UPI00001285E6	SNV	GTSF1L,5_prime_UTR_variant,,ENST00000373003,;GTSF1L,upstream_gene_variant,,ENST00000373005,;	24	86	71	SUCCESS
PLTP	5360	.	GRCh37	20	44531117	44531117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	134	0	ENST00000372431.3:c.1069C>A	p.Pro357Thr	p.P357T	ENST00000372431	NM_006227.3	357	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS13386.1	1069	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGTGGGA	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF16,Gene3D:1ewfA02,Pfam_domain:PF02886,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	.	ENSP00000417138	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000477313	Transcript	.	.	ENSG00000100979	9093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0.01)	.	PLTP_HUMAN	PLTP	HGNC	.	.	UPI0000131C7C	SNV	PLTP,missense_variant,p.Pro269Thr,ENST00000372420,;PLTP,missense_variant,p.Pro357Thr,ENST00000372431,;PLTP,missense_variant,p.Pro262Thr,ENST00000420868,;PLTP,missense_variant,p.Pro377Thr,ENST00000542937,;PLTP,missense_variant,p.Pro357Thr,ENST00000477313,;PLTP,missense_variant,p.Pro305Thr,ENST00000354050,;CTSA,downstream_gene_variant,,ENST00000372484,;CTSA,downstream_gene_variant,,ENST00000354880,;CTSA,downstream_gene_variant,,ENST00000191018,;CTSA,downstream_gene_variant,,ENST00000372459,;CTSA,downstream_gene_variant,,ENST00000607187,;CTSA,downstream_gene_variant,,ENST00000606000,;CTSA,downstream_gene_variant,,ENST00000606788,;CTSA,downstream_gene_variant,,ENST00000493522,;CTSA,downstream_gene_variant,,ENST00000484855,;	1664	134	94	SUCCESS
SLC23A2	9962	.	GRCh37	20	4842648	4842648	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	36	199	0	ENST00000338244.1:c.1570A>C	p.Ile524Leu	p.I524L	ENST00000338244	NM_005116.5	524	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS13085.1	1570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATCGAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF33,Pfam_domain:PF00860	.	.	ENSP00000368637	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000379333	Transcript	.	.	ENSG00000089057	10973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.39)	.	S23A2_HUMAN	SLC23A2	HGNC	Q4ZGM1_HUMAN	.	UPI0000136292	SNV	SLC23A2,missense_variant,p.Ile281Leu,ENST00000423430,;SLC23A2,missense_variant,p.Ile524Leu,ENST00000379333,;SLC23A2,missense_variant,p.Ile410Leu,ENST00000424750,;SLC23A2,missense_variant,p.Ile524Leu,ENST00000338244,;	1963	199	155	SUCCESS
NPEPL1	79716	.	GRCh37	20	57273748	57273748	+	synonymous_variant	Silent	SNP	G	G	A	rs200126949	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	34	0	ENST00000356091.6:c.516G>A	p.Ala172=	p.A172=	ENST00000356091	NM_024663.3	172	gcG/gcA	0	A:0.0041	A:0.0068	.	A:0	.	A	A	protein_coding	YES	CCDS46621.1	516	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCGAATGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Gene3D:3.40.630.10	A:0	A:0	ENSP00000348395	A:0	4/12	.	.	.	.	.	.	.	.	rs200126949	4/12	PASS	ENST00000356091	Transcript	.	A:0.0018	ENSG00000215440	16244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PEPL1_HUMAN	NPEPL1	HGNC	H0UI76_HUMAN	.	UPI000036789E	SNV	NPEPL1,synonymous_variant,p.%3D,ENST00000525817,;NPEPL1,synonymous_variant,p.%3D,ENST00000525967,;NPEPL1,synonymous_variant,p.%3D,ENST00000356091,;NPEPL1,synonymous_variant,p.%3D,ENST00000533788,;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,;	804	34	17	SUCCESS
DIDO1	11083	.	GRCh37	20	61525146	61525146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	79	0	ENST00000266070.4:c.2973G>A	p.Met991Ile	p.M991I	ENST00000266070	NM_033081.2	991	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS33506.1	2973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCATGTG	NONE	.	.	hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	.	.	ENSP00000266070	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000266070	Transcript	.	.	ENSG00000101191	2680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	DIDO1_HUMAN	DIDO1	HGNC	.	.	UPI0000206380	SNV	DIDO1,missense_variant,p.Met991Ile,ENST00000266070,;DIDO1,missense_variant,p.Met991Ile,ENST00000395335,;DIDO1,missense_variant,p.Met991Ile,ENST00000395340,;DIDO1,missense_variant,p.Met991Ile,ENST00000395343,;	3299	79	69	SUCCESS
KRTAP6-1	337966	.	GRCh37	21	31986189	31986189	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1462335155	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	114	0	ENST00000329122.2:c.35C>T	p.Thr12Ile	p.T12I	ENST00000329122	NM_181602.1	12	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS13602.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGTGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF2,hmmpanther:PTHR31678	.	.	ENSP00000332690	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329122	Transcript	.	.	ENSG00000184724	18931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KRA61_HUMAN	KRTAP6-1	HGNC	.	.	UPI00001A9E58	SNV	KRTAP6-1,missense_variant,p.Thr12Ile,ENST00000329122,;KRTAP20-1,upstream_gene_variant,,ENST00000334664,;	61	114	110	SUCCESS
KCNJ6	3763	.	GRCh37	21	38997477	38997477	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	64	0	ENST00000609713.1:c.1256A>G	p.Asn419Ser	p.N419S	ENST00000609713	NM_002240.3	419	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS42927.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCATTCTCC	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19	.	.	ENSP00000477437	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000609713	Transcript	.	.	ENSG00000157542	6267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	.	KCNJ6	HGNC	.	.	UPI0000000B10	SNV	KCNJ6,missense_variant,p.Asn419Ser,ENST00000288309,;KCNJ6,missense_variant,p.Asn419Ser,ENST00000609713,;	1846	64	42	SUCCESS
LCA5L	150082	.	GRCh37	21	40794803	40794803	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	42	0	ENST00000288350.3:c.837+99C>T		p.*279*	ENST00000288350				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13665.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTAGTAATG	NONE	.	.	.	.	.	ENSP00000351008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358268	Transcript	.	.	ENSG00000157578	1255	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCA5L_HUMAN	LCA5L	HGNC	C9JYR0_HUMAN,C9JRD7_HUMAN,C9JIJ8_HUMAN,C9JFB6_HUMAN,C9J9Z3_HUMAN,C9J5D2_HUMAN,C9J293_HUMAN,C9J198_HUMAN	.	UPI00000015EE	SNV	LCA5L,3_prime_UTR_variant,,ENST00000485895,;LCA5L,intron_variant,,ENST00000288350,;LCA5L,intron_variant,,ENST00000358268,;LCA5L,intron_variant,,ENST00000380671,;LCA5L,downstream_gene_variant,,ENST00000418018,;LCA5L,intron_variant,,ENST00000484878,;WRB,intron_variant,,ENST00000478273,;LCA5L,downstream_gene_variant,,ENST00000459939,;LCA5L,downstream_gene_variant,,ENST00000490184,;WRB,upstream_gene_variant,,ENST00000480690,;LCA5L,downstream_gene_variant,,ENST00000466954,;WRB,upstream_gene_variant,,ENST00000476914,;LCA5L,non_coding_transcript_exon_variant,,ENST00000491625,;	.	42	26	SUCCESS
MYO18B	84700	.	GRCh37	22	26164310	26164310	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746828963	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	44	217	0	ENST00000536101.1:c.427C>A	p.Pro143Thr	p.P143T	ENST00000536101		143	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54507.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCCCTTC	NONE	byFrequency	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	4/44	.	.	.	.	.	.	.	.	rs746828963	4/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious_low_confidence(0)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Pro143Thr,ENST00000335473,;MYO18B,missense_variant,p.Pro143Thr,ENST00000407587,;MYO18B,missense_variant,p.Pro143Thr,ENST00000536101,;MYO18B,missense_variant,p.Pro143Thr,ENST00000539302,;MYO18B,upstream_gene_variant,,ENST00000418374,;	677	217	160	SUCCESS
GGA1	26088	.	GRCh37	22	38012994	38012994	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	19	129	0	ENST00000343632.4:c.194A>T	p.Gln65Leu	p.Q65L	ENST00000343632	NM_013365.4	65	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13951.1	194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCAGGCCT	NONE	.	.	PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF82,hmmpanther:PTHR13856,Pfam_domain:PF00790,Gene3D:1.25.40.90,SMART_domains:SM00288,Superfamily_domains:SSF48464	.	.	ENSP00000341344	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000343632	Transcript	.	.	ENSG00000100083	17842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	GGA1_HUMAN	GGA1	HGNC	B0QYS5_HUMAN,B0QYS4_HUMAN,B0QYS3_HUMAN,B0QYS2_HUMAN,B0QYS1_HUMAN,B0QYS0_HUMAN,B0QYR9_HUMAN,B0QYR8_HUMAN	.	UPI0000001BEE	SNV	GGA1,missense_variant,p.Gln65Leu,ENST00000381756,;GGA1,missense_variant,p.Gln65Leu,ENST00000325180,;GGA1,missense_variant,p.Gln57Leu,ENST00000449944,;GGA1,missense_variant,p.Gln65Leu,ENST00000343632,;GGA1,missense_variant,p.Gln65Leu,ENST00000414350,;GGA1,missense_variant,p.Gln65Leu,ENST00000337437,;GGA1,missense_variant,p.Gln65Leu,ENST00000405147,;GGA1,5_prime_UTR_variant,,ENST00000431745,;GGA1,5_prime_UTR_variant,,ENST00000406772,;GGA1,5_prime_UTR_variant,,ENST00000423024,;GGA1,5_prime_UTR_variant,,ENST00000439161,;GGA1,5_prime_UTR_variant,,ENST00000447515,;GGA1,5_prime_UTR_variant,,ENST00000326597,;GGA1,5_prime_UTR_variant,,ENST00000429218,;GGA1,5_prime_UTR_variant,,ENST00000411501,;GGA1,5_prime_UTR_variant,,ENST00000413251,;GGA1,5_prime_UTR_variant,,ENST00000453208,;GGA1,downstream_gene_variant,,ENST00000484804,;GGA1,downstream_gene_variant,,ENST00000488672,;GGA1,non_coding_transcript_exon_variant,,ENST00000489772,;GGA1,upstream_gene_variant,,ENST00000481613,;GGA1,upstream_gene_variant,,ENST00000491295,;	580	129	91	SUCCESS
NCAPH2	29781	.	GRCh37	22	50961535	50961535	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	77	0	ENST00000420993.2:c.1617G>T	p.Glu539Asp	p.E539D	ENST00000420993	NM_001185011.1	539	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54546.1	1620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGAGCTGGT	NONE	.	.	hmmpanther:PTHR14324:SF3,hmmpanther:PTHR14324,Pfam_domain:PF06278	.	.	ENSP00000299821	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000299821	Transcript	.	.	ENSG00000025770	25071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	tolerated(0.4)	.	CNDH2_HUMAN	NCAPH2	HGNC	.	.	UPI0000207A65	SNV	NCAPH2,missense_variant,p.Glu539Asp,ENST00000395701,;NCAPH2,missense_variant,p.Glu539Asp,ENST00000420993,;NCAPH2,missense_variant,p.Glu75Asp,ENST00000522304,;NCAPH2,missense_variant,p.Glu540Asp,ENST00000299821,;NCAPH2,downstream_gene_variant,,ENST00000523045,;SCO2,downstream_gene_variant,,ENST00000395693,;TYMP,downstream_gene_variant,,ENST00000425169,;NCAPH2,downstream_gene_variant,,ENST00000395698,;TYMP,downstream_gene_variant,,ENST00000252029,;TYMP,downstream_gene_variant,,ENST00000395678,;TYMP,downstream_gene_variant,,ENST00000395681,;SCO2,downstream_gene_variant,,ENST00000252785,;SCO2,downstream_gene_variant,,ENST00000423348,;SCO2,downstream_gene_variant,,ENST00000543927,;TYMP,downstream_gene_variant,,ENST00000395680,;SCO2,downstream_gene_variant,,ENST00000535425,;SCO2,downstream_gene_variant,,ENST00000439934,;CTA-384D8.36,upstream_gene_variant,,ENST00000608319,;NCAPH2,downstream_gene_variant,,ENST00000520297,;TYMP,downstream_gene_variant,,ENST00000487577,;TYMP,downstream_gene_variant,,ENST00000487162,;TYMP,downstream_gene_variant,,ENST00000476284,;NCAPH2,downstream_gene_variant,,ENST00000522048,;NCAPH2,downstream_gene_variant,,ENST00000518394,;	1698	77	75	SUCCESS
CLASP1	23332	.	GRCh37	2	122165165	122165165	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	40	195	0	ENST00000263710.4:c.2551C>T	p.Leu851=	p.L851=	ENST00000263710	NM_015282.2	851	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	.	2551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGATAAT	NONE	.	.	hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567	.	.	ENSP00000263710	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000263710	Transcript	.	.	ENSG00000074054	17088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLAP1_HUMAN	CLASP1	HGNC	C9JP76_HUMAN,C9J151_HUMAN	.	UPI00001A8BFF	SNV	CLASP1,synonymous_variant,p.%3D,ENST00000463621,;CLASP1,synonymous_variant,p.%3D,ENST00000397587,;CLASP1,synonymous_variant,p.%3D,ENST00000263710,;CLASP1,synonymous_variant,p.%3D,ENST00000541859,;CLASP1,synonymous_variant,p.%3D,ENST00000455322,;CLASP1,synonymous_variant,p.%3D,ENST00000541377,;CLASP1,synonymous_variant,p.%3D,ENST00000545861,;CLASP1,synonymous_variant,p.%3D,ENST00000409078,;CLASP1,synonymous_variant,p.%3D,ENST00000452274,;	2941	196	175	SUCCESS
TTN	7273	.	GRCh37	2	179595433	179595433	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	6	172	0	ENST00000591111.1:c.16876G>A	p.Ala5626Thr	p.A5626T	ENST00000591111		5626	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS59435.1	17827	MUTECT|MUSE	.	CCCAGCCACTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	61/363	.	.	.	.	.	.	.	.	.	61/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala4699Thr,ENST00000342992,;TTN,missense_variant,p.Ala5943Thr,ENST00000589042,;TTN,missense_variant,p.Ala5626Thr,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	18052	172	155	SUCCESS
TTN	7273	.	GRCh37	2	179634550	179634550	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs911601060	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	34	166	0	ENST00000591111.1:c.8758G>A	p.Glu2920Lys	p.E2920K	ENST00000591111		2920	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS59435.1	8758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTCCACAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	37/363	.	.	.	.	.	.	.	.	COSM138336,COSM138334,COSM138335,COSM138333	37/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu2920Lys,ENST00000360870,;TTN,missense_variant,p.Glu2874Lys,ENST00000359218,;TTN,missense_variant,p.Glu2920Lys,ENST00000342992,;TTN,missense_variant,p.Glu2874Lys,ENST00000342175,;TTN,missense_variant,p.Glu2920Lys,ENST00000589042,;TTN,missense_variant,p.Glu2920Lys,ENST00000591111,;TTN,missense_variant,p.Glu2874Lys,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;	8983	166	142	SUCCESS
OSGEPL1	64172	.	GRCh37	2	190617705	190617705	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs889260416	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	66	321	0	ENST00000264151.5:c.964G>T	p.Val322Phe	p.V322F	ENST00000264151	NM_022353.2	322	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS46472.1	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACCTGAA	NONE	.	.	hmmpanther:PTHR11735:SF12,hmmpanther:PTHR11735,TIGRFAM_domain:TIGR00329,Pfam_domain:PF00814,Superfamily_domains:SSF53067,Prints_domain:PR00789	.	.	ENSP00000264151	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000264151	Transcript	.	.	ENSG00000128694	23075	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	deleterious(0)	.	OSGP2_HUMAN	OSGEPL1	HGNC	E7EVL7_HUMAN,E5RIL9_HUMAN,E5RGZ1_HUMAN	.	UPI000006D878	SNV	OSGEPL1,missense_variant,p.Val322Phe,ENST00000519810,;OSGEPL1,missense_variant,p.Val322Phe,ENST00000264151,;OSGEPL1,missense_variant,p.Val322Phe,ENST00000522700,;OSGEPL1,downstream_gene_variant,,ENST00000521630,;OSGEPL1,downstream_gene_variant,,ENST00000520350,;OSGEPL1,downstream_gene_variant,,ENST00000517895,;Y_RNA,upstream_gene_variant,,ENST00000411317,;ANKAR,non_coding_transcript_exon_variant,,ENST00000476208,;OSGEPL1,splice_region_variant,,ENST00000524043,;ANKAR,intron_variant,,ENST00000441800,;OSGEPL1,downstream_gene_variant,,ENST00000518114,;	1067	321	261	SUCCESS
CYP20A1	57404	.	GRCh37	2	204150447	204150447	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	424	129	616	0	ENST00000356079.4:c.963G>A	p.Glu321=	p.E321=	ENST00000356079	NM_177538.2	321	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS2357.1	963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAGCAGCT	NONE	.	.	hmmpanther:PTHR24280:SF3,hmmpanther:PTHR24280,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000348380	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000356079	Transcript	.	.	ENSG00000119004	20576	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP20A_HUMAN	CYP20A1	HGNC	Q8WZ13_HUMAN,Q53RS5_HUMAN	.	UPI0000048EFF	SNV	CYP20A1,synonymous_variant,p.%3D,ENST00000443941,;CYP20A1,synonymous_variant,p.%3D,ENST00000429815,;CYP20A1,synonymous_variant,p.%3D,ENST00000356079,;CYP20A1,non_coding_transcript_exon_variant,,ENST00000461371,;CYP20A1,non_coding_transcript_exon_variant,,ENST00000489360,;CYP20A1,downstream_gene_variant,,ENST00000463131,;CYP20A1,3_prime_UTR_variant,,ENST00000431118,;CYP20A1,3_prime_UTR_variant,,ENST00000449301,;	1086	617	553	SUCCESS
MAP2	4133	.	GRCh37	2	210558225	210558225	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	52	180	0	ENST00000360351.4:c.1331T>C	p.Leu444Pro	p.L444P	ENST00000360351	NM_002374.3	444	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS2384.1	1331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTTGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377	.	.	ENSP00000353508	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000360351	Transcript	.	.	ENSG00000078018	6839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.41)	.	MTAP2_HUMAN	MAP2	HGNC	A8MZ31_HUMAN	.	UPI000013D119	SNV	MAP2,missense_variant,p.Leu440Pro,ENST00000447185,;MAP2,missense_variant,p.Leu444Pro,ENST00000360351,;MAP2,missense_variant,p.Leu526Pro,ENST00000445941,;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000199940,;MAP2,intron_variant,,ENST00000392194,;MAP2,intron_variant,,ENST00000452717,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;MAP2,upstream_gene_variant,,ENST00000475600,;	1837	180	176	SUCCESS
APOB	338	.	GRCh37	2	21229990	21230017	+	frameshift_variant	Frame_Shift_Del	DEL	TCCAGGAATTTGAAAGGTCCTGGGGAGC	TCCAGGAATTTGAAAGGTCCTGGGGAGC	GAG	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	TCCAGGAATTTGAAAGGTCCTGGGGAGC	TCCAGGAATTTGAAAGGTCCTGGGGAGC	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	168	0	ENST00000233242.1:c.9723_9750delinsCTC	p.Glu3241AspfsTer17	p.E3241Dfs*17	ENST00000233242	NM_000384.2	3241	gaGCTCCCCAGGACCTTTCAAATTCCTGGA/gaCTC	0	.	.	.	.	.	GAG	ELPRTFQIPG/DX	protein_coding	YES	CCDS1703.1	9723-9750	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTC	CODON|p.L3242L|c.9726C>T|4	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	substitution	APOB,frameshift_variant,p.Glu3241AspfsTer17,ENST00000233242,;	9851-9878	168	99	SUCCESS
APOB	338	.	GRCh37	2	21230017	21230017	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	162	0	ENST00000233242.1:c.9723del	p.Glu3241AspfsTer25	p.E3241Dfs*25	ENST00000233242	NM_000384.2	3241	gaG/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS1703.1	9723	INDELOCATOR|VARSCANI	.	GGGGAGCTCGTC	BUFFER|p.L3242L|c.9726C>T|4	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Glu3241AspfsTer25,ENST00000233242,;	9851	162	95	SUCCESS
ZNF142	7701	.	GRCh37	2	219513983	219513983	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	96	0	ENST00000411696.2:c.648A>C	p.Glu216Asp	p.E216D	ENST00000411696		216	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS42817.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTTTCACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,Superfamily_domains:SSF57667	.	.	ENSP00000398798	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000411696	Transcript	.	.	ENSG00000115568	12927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0.04)	.	ZN142_HUMAN	ZNF142	HGNC	C9J055_HUMAN	.	UPI000013D5FC	SNV	ZNF142,missense_variant,p.Glu216Asp,ENST00000411696,;ZNF142,missense_variant,p.Glu216Asp,ENST00000449707,;ZNF142,downstream_gene_variant,,ENST00000440934,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;	1428	96	78	SUCCESS
OBSL1	23363	.	GRCh37	2	220426656	220426656	+	intron_variant	Intron	SNP	G	G	C	rs778192989	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	4	152	0	ENST00000404537.1:c.2953+468C>G		p.*985*	ENST00000404537	NM_015311.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46520.1	.	MUTECT|MUSE	.	GAGCCGCCGGG	NONE	.	.	.	.	.	ENSP00000385636	.	.	.	.	.	.	.	.	.	.	rs778192989	.	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	MODIFIER	8/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,missense_variant,p.Arg597Gly,ENST00000289656,;OBSL1,missense_variant,p.Arg1010Gly,ENST00000373873,;OBSL1,intron_variant,,ENST00000603926,;OBSL1,intron_variant,,ENST00000373876,;OBSL1,intron_variant,,ENST00000604031,;OBSL1,intron_variant,,ENST00000265318,;OBSL1,intron_variant,,ENST00000404537,;OBSL1,upstream_gene_variant,,ENST00000456147,;OBSL1,upstream_gene_variant,,ENST00000265317,;RP11-256I23.2,downstream_gene_variant,,ENST00000597192,;OBSL1,intron_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;OBSL1,upstream_gene_variant,,ENST00000472388,;	.	152	99	SUCCESS
COL4A4	1286	.	GRCh37	2	227942713	227942713	+	synonymous_variant	Silent	SNP	C	C	T	rs761646265	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	52	170	0	ENST00000396625.3:c.1884G>A	p.Gly628=	p.G628=	ENST00000396625	NM_000092.4	628	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42828.1	1884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000379866	.	25/48	.	.	.	.	.	.	.	.	rs761646265	25/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,synonymous_variant,p.%3D,ENST00000329662,;COL4A4,synonymous_variant,p.%3D,ENST00000396625,;	2092	170	159	SUCCESS
MCEE	84693	.	GRCh37	2	71351621	71351621	+	synonymous_variant	Silent	SNP	T	T	C	rs954713172	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	13	89	0	ENST00000244217.5:c.93A>G	p.Thr31=	p.T31=	ENST00000244217	NM_032601.3	31	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1915.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGATGTGGA	NONE	.	.	hmmpanther:PTHR21366:SF2,hmmpanther:PTHR21366	.	.	ENSP00000244217	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000244217	Transcript	.	.	ENSG00000124370	16732	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCEE_HUMAN	MCEE	HGNC	F5GZ54_HUMAN	.	UPI000003CA39	SNV	MCEE,synonymous_variant,p.%3D,ENST00000244217,;MCEE,5_prime_UTR_variant,,ENST00000486135,;MCEE,5_prime_UTR_variant,,ENST00000494660,;MCEE,upstream_gene_variant,,ENST00000413592,;AC007881.1,upstream_gene_variant,,ENST00000578636,;	111	89	75	SUCCESS
ANKRD36BP2	645784	.	GRCh37	2	89103745	89103745	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	31	0	ENST00000393525.3:n.4219G>A		p.*1407*	ENST00000393525				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GTAATGGGATG	NONE	.	.	.	.	.	.	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000393525	Transcript	.	.	ENSG00000230006	33607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ANKRD36BP2	HGNC	.	.	.	SNV	ANKRD36BP2,non_coding_transcript_exon_variant,,ENST00000393525,;ANKRD36BP2,intron_variant,,ENST00000393515,;ANKRD36BP2,intron_variant,,ENST00000454490,;ANKRD36BP2,intron_variant,,ENST00000575193,;	4219	31	24	SUCCESS
PLCXD2	257068	.	GRCh37	3	111394161	111394161	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	36	168	0	ENST00000477665.1:c.69G>A	p.Gly23=	p.G23=	ENST00000477665	NM_001185106.1	23	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54619.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGGGACAAA	NONE	.	.	hmmpanther:PTHR13593:SF32,hmmpanther:PTHR13593	.	.	ENSP00000420686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477665	Transcript	.	.	ENSG00000240891	26462	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX2_HUMAN	PLCXD2	HGNC	C9JB87_HUMAN	.	UPI0000DBDDA7	SNV	PLCXD2,synonymous_variant,p.%3D,ENST00000477665,;PLCXD2,synonymous_variant,p.%3D,ENST00000393934,;PLCXD2-AS1,downstream_gene_variant,,ENST00000493131,;	393	168	170	SUCCESS
PLXNA1	5361	.	GRCh37	3	126726697	126726697	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767000075	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	66	0	ENST00000393409.2:c.2053G>A	p.Val685Met	p.V685M	ENST00000393409	NM_032242.3	685	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS33847.2	2053	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGTGTGC	NONE	byFrequency	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000377061	.	8/31	.	.	.	.	.	.	.	.	rs767000075,COSM727652	8/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.031)	.	tolerated(0.23)	0,1	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,missense_variant,p.Val685Met,ENST00000393409,;PLXNA1,missense_variant,p.Val662Met,ENST00000251772,;	2053	66	67	SUCCESS
COPG1	22820	.	GRCh37	3	128976621	128976621	+	synonymous_variant	Silent	SNP	C	C	T	rs377596678	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	75	0	ENST00000314797.6:c.789C>T	p.His263=	p.H263=	ENST00000314797	NM_016128.3	263	caC/caT	0	T:0	.	.	.	.	T	H	protein_coding	YES	CCDS33851.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCACGAGAT	NONE	byCluster	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037093,Pfam_domain:PF01602,Gene3D:1.25.10.10,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3	.	T:0.0001	ENSP00000325002	.	10/24	.	.	.	.	.	.	.	.	rs377596678	10/24	PASS	ENST00000314797	Transcript	.	.	ENSG00000181789	2236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COPG1_HUMAN	COPG1	HGNC	Q8WUI6_HUMAN	.	UPI000000095F	SNV	COPG1,synonymous_variant,p.%3D,ENST00000314797,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,downstream_gene_variant,,ENST00000509208,;COPG1,downstream_gene_variant,,ENST00000504350,;COPG1,upstream_gene_variant,,ENST00000504547,;COPG1,downstream_gene_variant,,ENST00000513965,;	893	75	71	SUCCESS
ZNF385D	79750	.	GRCh37	3	21792484	21792484	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	40	168	0	ENST00000281523.2:c.-76G>C		p.*26*	ENST00000281523	NM_024697.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2636.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCCTTTC	NONE	.	.	.	.	.	ENSP00000281523	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000281523	Transcript	.	.	ENSG00000151789	26191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z385D_HUMAN	ZNF385D	HGNC	.	.	UPI00000724AC	SNV	ZNF385D,5_prime_UTR_variant,,ENST00000281523,;ZNF385D,intron_variant,,ENST00000478967,;ZNF385D,intron_variant,,ENST00000494118,;ZNF385D,intron_variant,,ENST00000494108,;ZNF385D,5_prime_UTR_variant,,ENST00000446749,;	444	168	136	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913409	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	46	161	0	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45F|c.134C>T|518,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45Y|c.134C>A|27,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.954)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	161	144	SUCCESS
ITIH3	3699	.	GRCh37	3	52829637	52829637	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-	rs772056909	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	83	0	ENST00000449956.2:c.114+1del		p.G38fs	ENST00000449956	NM_002217.3	38	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS46845.1	112	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGGAAGGGGTA	NONE	.	.	SMART_domains:SM00609,hmmpanther:PTHR10338:SF24,hmmpanther:PTHR10338,PROSITE_profiles:PS51468	.	.	ENSP00000415769	.	2/22	.	.	.	.	.	.	.	.	rs772056909	2/22	PASS	ENST00000449956	Transcript	.	.	ENSG00000162267	6168	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITIH3_HUMAN	ITIH3	HGNC	.	.	UPI00005CE290	deletion	ITIH3,frameshift_variant,,ENST00000416872,;ITIH3,frameshift_variant,,ENST00000449956,;ITIH1,downstream_gene_variant,,ENST00000537050,;ITIH1,downstream_gene_variant,,ENST00000273283,;ITIH1,downstream_gene_variant,,ENST00000428133,;ITIH1,downstream_gene_variant,,ENST00000405128,;ITIH1,downstream_gene_variant,,ENST00000542827,;ITIH1,downstream_gene_variant,,ENST00000540715,;ITIH3,upstream_gene_variant,,ENST00000465243,;ITIH3,upstream_gene_variant,,ENST00000463893,;ITIH3,non_coding_transcript_exon_variant,,ENST00000467268,;ITIH3,upstream_gene_variant,,ENST00000464804,;ITIH1,downstream_gene_variant,,ENST00000494705,;	118	83	43	SUCCESS
IL17RE	132014	.	GRCh37	3	9956184	9956184	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	51	0	ENST00000383814.3:c.1297-48G>T		p.*433*	ENST00000383814	NM_153480.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2589.1	.	MUTECT|MUSE	.	CCCGGGAGGAG	NONE	.	.	.	.	.	ENSP00000295980	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295980	Transcript	.	.	ENSG00000163701	18439	.	.	MODIFIER	14/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I17RE_HUMAN	IL17RE	HGNC	.	.	UPI000003E87E	SNV	IL17RE,missense_variant,p.Gly441Val,ENST00000454190,;IL17RE,intron_variant,,ENST00000421412,;IL17RE,intron_variant,,ENST00000295980,;IL17RE,intron_variant,,ENST00000383814,;IL17RC,upstream_gene_variant,,ENST00000436503,;IL17RC,upstream_gene_variant,,ENST00000455057,;IL17RC,upstream_gene_variant,,ENST00000438091,;IL17RC,upstream_gene_variant,,ENST00000295981,;IL17RC,upstream_gene_variant,,ENST00000416074,;IL17RC,upstream_gene_variant,,ENST00000403601,;IL17RC,upstream_gene_variant,,ENST00000413608,;IL17RC,upstream_gene_variant,,ENST00000383812,;RNU6-882P,downstream_gene_variant,,ENST00000391025,;IL17RC,upstream_gene_variant,,ENST00000498214,;IL17RE,3_prime_UTR_variant,,ENST00000383815,;IL17RE,intron_variant,,ENST00000434065,;IL17RE,downstream_gene_variant,,ENST00000480244,;IL17RC,upstream_gene_variant,,ENST00000424206,;IL17RC,upstream_gene_variant,,ENST00000440502,;IL17RC,upstream_gene_variant,,ENST00000412901,;IL17RC,upstream_gene_variant,,ENST00000451231,;IL17RC,upstream_gene_variant,,ENST00000481032,;IL17RC,upstream_gene_variant,,ENST00000469686,;IL17RE,downstream_gene_variant,,ENST00000483258,;IL17RC,upstream_gene_variant,,ENST00000466046,;IL17RC,upstream_gene_variant,,ENST00000476810,;IL17RC,upstream_gene_variant,,ENST00000483582,;IL17RC,upstream_gene_variant,,ENST00000497102,;IL17RE,downstream_gene_variant,,ENST00000444427,;IL17RE,downstream_gene_variant,,ENST00000489181,;IL17RC,upstream_gene_variant,,ENST00000490512,;IL17RC,upstream_gene_variant,,ENST00000451271,;IL17RC,upstream_gene_variant,,ENST00000451165,;IL17RC,upstream_gene_variant,,ENST00000494365,;IL17RC,upstream_gene_variant,,ENST00000434756,;	.	51	27	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148796299	148796299	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	378	150	658	0	ENST00000336498.3:c.830A>G	p.Lys277Arg	p.K277R	ENST00000336498	NM_024605.3	277	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS34075.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAAAAGTA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729,Superfamily_domains:SSF103657	.	.	ENSP00000336923	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Lys277Arg,ENST00000336498,;ARHGAP10,splice_region_variant,,ENST00000506054,;	1069	658	528	SUCCESS
FGG	2266	.	GRCh37	4	155529796	155529796	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	34	0	ENST00000336098.3:c.673del	p.Asp225MetfsTer4	p.D225Mfs*4	ENST00000336098	NM_021870.2	225	Gat/at	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS3788.1	673	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCATCAAGTC	NONE	.	.	Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,PROSITE_profiles:PS51406	.	.	ENSP00000336829	.	7/9	.	.	.	.	.	.	.	.	COSM3660955	7/9	PASS	ENST00000336098	Transcript	1	.	ENSG00000171557	3694	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	FIBG_HUMAN	FGG	HGNC	C9JU00_HUMAN,C9JPQ9_HUMAN	.	UPI000012A78D	deletion	FGG,frameshift_variant,p.Asp233MetfsTer4,ENST00000407946,;FGG,frameshift_variant,p.Asp225MetfsTer4,ENST00000336098,;FGG,frameshift_variant,p.Asp122MetfsTer?,ENST00000443553,;FGG,frameshift_variant,p.Asp225MetfsTer4,ENST00000404648,;FGG,frameshift_variant,p.Asp233MetfsTer4,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000484695,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000464532,;FGG,downstream_gene_variant,,ENST00000465336,;	712	34	38	SUCCESS
FBXO8	26269	.	GRCh37	4	175183929	175183929	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	33	152	0	ENST00000393674.2:c.315A>C	p.Glu105Asp	p.E105D	ENST00000393674	NM_012180.2	105	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS3820.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTTCATC	NONE	.	.	PROSITE_profiles:PS50181,hmmpanther:PTHR10663,Gene3D:1.20.1280.50,Pfam_domain:PF12937,Superfamily_domains:SSF81383	.	.	ENSP00000377280	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000393674	Transcript	.	.	ENSG00000164117	13587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.17)	.	FBX8_HUMAN	FBXO8	HGNC	D6RIC0_HUMAN	.	UPI000012A588	SNV	FBXO8,missense_variant,p.Glu105Asp,ENST00000393674,;FBXO8,missense_variant,p.Glu105Asp,ENST00000513696,;FBXO8,missense_variant,p.Glu64Asp,ENST00000503293,;FBXO8,missense_variant,p.Glu105Asp,ENST00000515664,;	1178	152	149	SUCCESS
FAM149A	25854	.	GRCh37	4	187088139	187088139	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	75	287	0	ENST00000356371.5:c.2055A>G	p.Leu685=	p.L685=	ENST00000356371		685	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34117.1	1182	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTACAAAA	NONE	.	.	hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF2	.	.	ENSP00000227065	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000227065	Transcript	.	.	ENSG00000109794	24527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F149A_HUMAN	FAM149A	HGNC	D6RGX1_HUMAN,D6RC92_HUMAN,D6RAL4_HUMAN	.	UPI00001C1E1F	SNV	FAM149A,synonymous_variant,p.%3D,ENST00000512271,;FAM149A,synonymous_variant,p.%3D,ENST00000514153,;FAM149A,synonymous_variant,p.%3D,ENST00000389354,;FAM149A,synonymous_variant,p.%3D,ENST00000502970,;FAM149A,synonymous_variant,p.%3D,ENST00000503432,;FAM149A,synonymous_variant,p.%3D,ENST00000510843,;FAM149A,synonymous_variant,p.%3D,ENST00000227065,;FAM149A,synonymous_variant,p.%3D,ENST00000356371,;FAM149A,upstream_gene_variant,,ENST00000502894,;FAM149A,non_coding_transcript_exon_variant,,ENST00000515078,;FAM149A,non_coding_transcript_exon_variant,,ENST00000514956,;ORAOV1P1,downstream_gene_variant,,ENST00000503108,;	1761	287	237	SUCCESS
PCDH7	5099	.	GRCh37	4	30723752	30723752	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	29	0	ENST00000361762.2:c.708C>T	p.Asn236=	p.N236=	ENST00000361762	NM_002589.2	236	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS54753.1	708	MUTECT|MUSE	.	ACCAACCCCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,SMART_domains:SM00112	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,synonymous_variant,p.%3D,ENST00000543491,;PCDH7,synonymous_variant,p.%3D,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000511884,;PCDH7,upstream_gene_variant,,ENST00000507864,;	708	29	32	SUCCESS
ABCA11P	79963	.	GRCh37	4	419956	419956	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	64	0	ENST00000451020.2:n.1083C>T		p.*361*	ENST00000451020				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGGTCACA	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000451020	Transcript	.	.	ENSG00000251595	31	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ABCA11P	HGNC	.	.	.	SNV	ZNF721,downstream_gene_variant,,ENST00000506646,;ABCA11P,non_coding_transcript_exon_variant,,ENST00000507854,;ABCA11P,non_coding_transcript_exon_variant,,ENST00000514396,;ABCA11P,non_coding_transcript_exon_variant,,ENST00000451020,;ZNF721,3_prime_UTR_variant,,ENST00000515578,;ABCA11P,non_coding_transcript_exon_variant,,ENST00000504019,;	1083	64	51	SUCCESS
ALB	213	.	GRCh37	4	74282072	74282072	+	splice_donor_variant	Splice_Site	SNP	T	T	G	rs77232890	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	54	214	0	ENST00000295897.4:c.1289+2T>G		p.X430_splice	ENST00000295897	NM_000477.5	430		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3555.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGTAAGTA	NONE	byCluster	.	.	.	.	ENSP00000295897	.	.	.	.	.	.	.	.	.	.	rs77232890	.	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	HIGH	10/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000401494,;ALB,splice_donor_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000476441,;ALB,splice_donor_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,downstream_gene_variant,,ENST00000504043,;	.	214	188	SUCCESS
NAAA	27163	.	GRCh37	4	76840924	76840924	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	26	0	ENST00000286733.4:c.969+138A>G		p.*323*	ENST00000286733	NM_014435.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43239.1	.	MUTECT|MUSE	.	CCACTTTTAAT	NONE	.	.	.	.	.	ENSP00000286733	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286733	Transcript	.	.	ENSG00000138744	736	.	.	MODIFIER	8/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAAA_HUMAN	NAAA	HGNC	.	.	UPI00001AEAEE	SNV	NAAA,3_prime_UTR_variant,,ENST00000505594,;NAAA,intron_variant,,ENST00000602782,;NAAA,intron_variant,,ENST00000286733,;NAAA,intron_variant,,ENST00000507956,;NAAA,intron_variant,,ENST00000399497,;NAAA,intron_variant,,ENST00000511606,;NAAA,intron_variant,,ENST00000513045,;	.	26	22	SUCCESS
PCDHGB3	56102	.	GRCh37	5	140751548	140751548	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	103	0	ENST00000576222.1:c.1587G>A	p.Glu529=	p.E529=	ENST00000576222	NM_018924.2	529	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS58980.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGAGCTCAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000461862	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000576222	Transcript	.	.	ENSG00000262209	8710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGF_HUMAN	PCDHGB3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FA6F	SNV	PCDHGB3,synonymous_variant,p.%3D,ENST00000576222,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA6,upstream_gene_variant,,ENST00000517434,;	1718	103	84	SUCCESS
ATP10B	23120	.	GRCh37	5	159992837	159992837	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747184959	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	18	105	0	ENST00000327245.5:c.4009C>T	p.Leu1337Phe	p.L1337F	ENST00000327245	NM_025153.2	1337	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS43394.1	4009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGTTTGT	NONE	.	.	hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	26/26	.	.	.	.	.	.	.	.	rs747184959	26/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.02)	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,missense_variant,p.Leu1337Phe,ENST00000327245,;	4856	105	97	SUCCESS
DUSP1	1843	.	GRCh37	5	172196041	172196041	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	7	84	0	ENST00000239223.3:c.828T>C	p.Thr276=	p.T276=	ENST00000239223	NM_004417.3	276	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS4380.1	828	MUTECT|MUSE|VARSCANS	.	CGATTAGTCCT	NONE	.	.	PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,hmmpanther:PTHR10159:SF309,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF000939,SMART_domains:SM00195,SMART_domains:SM00404,Superfamily_domains:SSF52799	.	.	ENSP00000239223	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000239223	Transcript	.	.	ENSG00000120129	3064	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUS1_HUMAN	DUSP1	HGNC	B4E2X6_HUMAN	.	UPI000004EED8	SNV	DUSP1,synonymous_variant,p.%3D,ENST00000239223,;RP11-779O18.3,intron_variant,,ENST00000523005,;	1071	84	84	SUCCESS
CDH18	1016	.	GRCh37	5	19473754	19473754	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773695784	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	56	0	ENST00000274170.4:c.1954C>T	p.Arg652Trp	p.R652W	ENST00000274170		652	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3889.1	1954	MUTECT|MUSE	.	CTCCCGTACAT	NONE	byFrequency	.	Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106	.	.	ENSP00000425093	.	15/15	.	.	.	.	.	.	.	.	rs773695784,COSM3393515,COSM3393514	15/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(0.938)	.	deleterious(0)	0,1,1	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Arg652Trp,ENST00000382275,;CDH18,missense_variant,p.Arg652Trp,ENST00000274170,;CDH18,missense_variant,p.Arg652Trp,ENST00000507958,;CDH18,3_prime_UTR_variant,,ENST00000515257,;CDH18,3_prime_UTR_variant,,ENST00000506372,;CDH18,3_prime_UTR_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	2945	56	56	SUCCESS
ACTBL2	345651	.	GRCh37	5	56777436	56777436	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	18	133	0	ENST00000423391.1:c.1099G>A	p.Gly367Ser	p.G367S	ENST00000423391	NM_001017992.3	367	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS34163.1	1099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCAGCCT	NONE	.	.	hmmpanther:PTHR11937:SF168,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000416706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000423391	Transcript	.	.	ENSG00000169067	17780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0.01)	.	ACTBL_HUMAN	ACTBL2	HGNC	.	.	UPI000013EB83	SNV	ACTBL2,missense_variant,p.Gly367Ser,ENST00000423391,;AC025470.1,downstream_gene_variant,,ENST00000584598,;CTD-2023N9.1,intron_variant,,ENST00000506106,;	1201	133	86	SUCCESS
PDE4D	5144	.	GRCh37	5	59284493	59284493	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756880197	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	993	404	1753	0	ENST00000502484.2:c.94G>A	p.Gly32Arg	p.G32R	ENST00000502484	NM_001165899.1	32	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	.	CCDS54859.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCGCGGA	NONE	byFrequency	.	.	.	.	ENSP00000442734	.	2/16	.	.	.	.	.	.	.	.	rs756880197	2/16	PASS	ENST00000546160	Transcript	1	.	ENSG00000113448	8783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	deleterious_low_confidence(0.01)	.	PDE4D_HUMAN	PDE4D	HGNC	D6RIG1_HUMAN,D6RHE0_HUMAN,D6RAQ0_HUMAN	.	UPI0000074652	SNV	PDE4D,missense_variant,p.Gly32Arg,ENST00000546160,;PDE4D,missense_variant,p.Gly32Arg,ENST00000505507,;PDE4D,missense_variant,p.Gly32Arg,ENST00000514552,;PDE4D,missense_variant,p.Gly32Arg,ENST00000502484,;PDE4D,non_coding_transcript_exon_variant,,ENST00000512069,;PDE4D,non_coding_transcript_exon_variant,,ENST00000504624,;PDE4D,3_prime_UTR_variant,,ENST00000515835,;PDE4D,3_prime_UTR_variant,,ENST00000509368,;PDE4D,non_coding_transcript_exon_variant,,ENST00000511382,;PDE4D,non_coding_transcript_exon_variant,,ENST00000506510,;PDE4D,non_coding_transcript_exon_variant,,ENST00000506024,;PDE4D,non_coding_transcript_exon_variant,,ENST00000509355,;PDE4D,upstream_gene_variant,,ENST00000514231,;	94	1753	1397	SUCCESS
BEND3	57673	.	GRCh37	6	107390291	107390303	+	frameshift_variant	Frame_Shift_Del	DEL	GGATCTTGCAAAA	GGATCTTGCAAAA	-	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	GGATCTTGCAAAA	GGATCTTGCAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	122	34	241	0	ENST00000369042.1:c.2092_2104del	p.Phe698ProfsTer131	p.F698Pfs*131	ENST00000369042		698	TTTTGCAAGATCCcc/cc	0	.	.	.	.	.	-	FCKIP/X	protein_coding	YES	CCDS34507.1	2092-2104	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAGGGGATCTTGCAAAAGTCCT	NONE	.	.	.	.	.	ENSP00000411268	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429433	Transcript	.	.	ENSG00000178409	23040	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	deletion	BEND3,frameshift_variant,p.Phe698ProfsTer131,ENST00000429433,;BEND3,frameshift_variant,p.Phe698ProfsTer131,ENST00000369042,;	2742-2754	241	156	SUCCESS
TNFAIP3	7128	.	GRCh37	6	138202372	138202372	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	36	155	0	ENST00000237289.4:c.2289G>T	p.Arg763=	p.R763=	ENST00000237289	NM_001270507.1	763	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5187.1	2289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGGGCCCC	CODON|p.0?|c.1_2373del2373|25	.	.	SMART_domains:SM00259,Pfam_domain:PF01754,hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF3,PROSITE_profiles:PS51036	.	.	ENSP00000237289	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000237289	Transcript	.	.	ENSG00000118503	11896	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNAP3_HUMAN	TNFAIP3	HGNC	Q5VXR0_HUMAN,Q5VXQ9_HUMAN,Q5VXQ8_HUMAN,Q5PY18_HUMAN,D3TTZ5_HUMAN,D3TTZ0_HUMAN,D3TTY6_HUMAN	.	UPI000000D92D	SNV	TNFAIP3,synonymous_variant,p.%3D,ENST00000237289,;TNFAIP3,downstream_gene_variant,,ENST00000485192,;	2355	155	128	SUCCESS
REPS1	85021	.	GRCh37	6	139238740	139238740	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	70	0	ENST00000450536.2:c.1553C>G	p.Ser518Cys	p.S518C	ENST00000450536	NM_001286611.1	518	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS5193.2	1550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAGAGTCT	NONE	.	.	hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF63	.	.	ENSP00000258062	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000258062	Transcript	.	.	ENSG00000135597	15578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	REPS1_HUMAN	REPS1	HGNC	.	.	UPI000020E30A	SNV	REPS1,missense_variant,p.Ser476Cys,ENST00000529597,;REPS1,missense_variant,p.Ser517Cys,ENST00000258062,;REPS1,missense_variant,p.Ser518Cys,ENST00000450536,;REPS1,missense_variant,p.Ser491Cys,ENST00000415951,;REPS1,missense_variant,p.Ser491Cys,ENST00000367663,;REPS1,intron_variant,,ENST00000530255,;REPS1,intron_variant,,ENST00000409812,;REPS1,upstream_gene_variant,,ENST00000478483,;REPS1,3_prime_UTR_variant,,ENST00000483468,;REPS1,3_prime_UTR_variant,,ENST00000445570,;REPS1,downstream_gene_variant,,ENST00000431346,;REPS1,upstream_gene_variant,,ENST00000530370,;REPS1,downstream_gene_variant,,ENST00000414243,;REPS1,upstream_gene_variant,,ENST00000492787,;REPS1,upstream_gene_variant,,ENST00000529423,;REPS1,upstream_gene_variant,,ENST00000484164,;	2129	70	71	SUCCESS
RSPH3	83861	.	GRCh37	6	159421022	159421022	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	35	147	0	ENST00000252655.1:c.-14del		p.*5*	ENST00000252655	NM_031924.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5260.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTGCGGGGCA	NONE	.	.	.	.	.	ENSP00000252655	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000252655	Transcript	.	.	ENSG00000130363	21054	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RSPH3_HUMAN	RSPH3	HGNC	.	.	UPI000013CD78	deletion	RSPH3,5_prime_UTR_variant,,ENST00000297262,;RSPH3,5_prime_UTR_variant,,ENST00000252655,;RSPH3,5_prime_UTR_variant,,ENST00000367069,;RSPH3,upstream_gene_variant,,ENST00000449822,;RP1-111C20.4,intron_variant,,ENST00000606470,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000607391,;	177	147	167	SUCCESS
UHRF1BP1	54887	.	GRCh37	6	34803088	34803088	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	3	92	0	ENST00000192788.5:c.687G>T	p.Val229=	p.V229=	ENST00000192788	NM_017754.3	229	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS43455.1	687	MUTECT|MUSE	.	AATGTGATATC	NONE	.	.	hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	.	.	ENSP00000192788	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000192788	Transcript	.	.	ENSG00000065060	21216	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	URFB1_HUMAN	UHRF1BP1	HGNC	.	.	UPI00001B654C	SNV	UHRF1BP1,synonymous_variant,p.%3D,ENST00000192788,;UHRF1BP1,synonymous_variant,p.%3D,ENST00000452449,;	858	92	64	SUCCESS
PXDC1	221749	.	GRCh37	6	3751735	3751735	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1188303475	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	142	0	ENST00000380283.4:c.31C>T	p.Leu11Phe	p.L11F	ENST00000380283	NM_183373.3	11	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4486.1	31	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGAGCGACG	NONE	.	.	hmmpanther:PTHR31433	.	.	ENSP00000369636	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000380283	Transcript	.	.	ENSG00000168994	21361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.446)	.	deleterious_low_confidence(0.01)	.	PXDC1_HUMAN	PXDC1	HGNC	.	.	UPI000013EB28	SNV	PXDC1,missense_variant,p.Leu11Phe,ENST00000380283,;RP11-420L9.5,non_coding_transcript_exon_variant,,ENST00000603791,;PXDC1,non_coding_transcript_exon_variant,,ENST00000477592,;PXDC1,non_coding_transcript_exon_variant,,ENST00000485986,;RP11-420L9.2,upstream_gene_variant,,ENST00000402155,;	526	142	100	SUCCESS
COL12A1	1303	.	GRCh37	6	75902065	75902065	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	18	105	0	ENST00000322507.8:c.197C>T	p.Pro66Leu	p.P66L	ENST00000322507	NM_004370.5	66	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS43482.1	197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAGGCCCA	NONE	.	.	PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	4/66	.	.	.	.	.	.	.	.	.	4/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Pro66Leu,ENST00000416123,;COL12A1,missense_variant,p.Pro66Leu,ENST00000322507,;COL12A1,missense_variant,p.Pro66Leu,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;COL12A1,upstream_gene_variant,,ENST00000486533,;	507	105	80	SUCCESS
FAM46A	0	.	GRCh37	6	82459733	82459733	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	31	138	0	ENST00000320172.6:c.1008G>A	p.Leu336=	p.L336=	ENST00000320172	NM_017633.2	336	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34489.1	1008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCAGTTT	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF25	.	.	ENSP00000318298	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000320172	Transcript	.	.	ENSG00000112773	18345	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46A_HUMAN	FAM46A	HGNC	.	.	UPI000006E9BA	SNV	FAM46A,missense_variant,p.Gly71Arg,ENST00000423467,;FAM46A,synonymous_variant,p.%3D,ENST00000369754,;FAM46A,synonymous_variant,p.%3D,ENST00000320172,;FAM46A,synonymous_variant,p.%3D,ENST00000369756,;FAM46A,intron_variant,,ENST00000412306,;	1323	138	109	SUCCESS
ZNF292	23036	.	GRCh37	6	87943233	87943233	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	37	189	0	ENST00000369577.3:c.729G>T	p.Lys243Asn	p.K243N	ENST00000369577	NM_015021.1	243	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS47457.1	729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGTTAAT	NONE	.	.	hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	.	.	ENSP00000358590	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000369577	Transcript	.	.	ENSG00000188994	18410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0.01)	.	ZN292_HUMAN	ZNF292	HGNC	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN	.	UPI000020D2CC	SNV	ZNF292,missense_variant,p.Lys243Asn,ENST00000369577,;ZNF292,missense_variant,p.Lys238Asn,ENST00000339907,;ZNF292,intron_variant,,ENST00000518845,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,upstream_gene_variant,,ENST00000466062,;	772	189	164	SUCCESS
PNISR	25957	.	GRCh37	6	99849338	99849338	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs544853512	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	94	0	ENST00000369239.5:c.1496A>G	p.His499Arg	p.H499R	ENST00000369239	NM_032870.2	499	cAt/cGt	0	.	C:0.0015	.	C:0	.	C	H/R	protein_coding	YES	CCDS5043.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATGCTCT	BUFFER|p.E498fs*3|c.1491_1492insA|3	byFrequency|by1000G	.	hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518,Low_complexity_(Seg):seg	C:0	.	ENSP00000358242	C:0	12/12	.	.	.	.	.	.	.	.	rs544853512	12/12	PASS	ENST00000369239	Transcript	.	C:0.0004	ENSG00000132424	21222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	C:0	tolerated_low_confidence(0.62)	.	PNISR_HUMAN	PNISR	HGNC	Q8TEZ9_HUMAN	.	UPI000013E3A2	SNV	PNISR,missense_variant,p.His499Arg,ENST00000369239,;PNISR,missense_variant,p.His499Arg,ENST00000438806,;PNISR,non_coding_transcript_exon_variant,,ENST00000476159,;PNISR,non_coding_transcript_exon_variant,,ENST00000460600,;PNISR,intron_variant,,ENST00000481229,;PNISR,3_prime_UTR_variant,,ENST00000478777,;	1701	94	86	SUCCESS
VWDE	221806	.	GRCh37	7	12443479	12443479	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	138	0	ENST00000275358.3:c.-137C>A		p.*46*	ENST00000275358	NM_001135924.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47544.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGCGTCC	NONE	.	.	.	.	.	ENSP00000275358	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,5_prime_UTR_variant,,ENST00000275358,;VWDE,5_prime_UTR_variant,,ENST00000452576,;VWDE,5_prime_UTR_variant,,ENST00000521169,;VWDE,upstream_gene_variant,,ENST00000326715,;	53	138	119	SUCCESS
SCIN	85477	.	GRCh37	7	12617696	12617696	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	23	101	0	ENST00000297029.5:c.207G>A	p.Glu69=	p.E69=	ENST00000297029	NM_001112706.2	69	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS47545.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGTGTTC	NONE	.	.	hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,Gene3D:3.40.20.10,Pfam_domain:PF00626,SMART_domains:SM00262,Superfamily_domains:SSF55753	.	.	ENSP00000297029	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000297029	Transcript	.	.	ENSG00000006747	21695	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADSV_HUMAN	SCIN	HGNC	Q8NBV9_HUMAN,Q75MG0_HUMAN	.	UPI000013C4DF	SNV	SCIN,synonymous_variant,p.%3D,ENST00000417018,;SCIN,synonymous_variant,p.%3D,ENST00000297029,;SCIN,synonymous_variant,p.%3D,ENST00000341757,;SCIN,3_prime_UTR_variant,,ENST00000436854,;	308	101	89	SUCCESS
PLXNA4	91584	.	GRCh37	7	131883359	131883359	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	66	0	ENST00000321063.4:c.2623A>G	p.Lys875Glu	p.K875E	ENST00000321063	NM_020911.1	875	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS43646.1	2623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTTGGTGC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000352882	.	13/32	.	.	.	.	.	.	.	.	.	13/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	deleterious(0.03)	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Lys875Glu,ENST00000321063,;PLXNA4,missense_variant,p.Lys875Glu,ENST00000359827,;	3586	66	64	SUCCESS
GALNTL5	168391	.	GRCh37	7	151704964	151704964	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	48	228	0	ENST00000392800.2:c.961G>T	p.Glu321Ter	p.E321*	ENST00000392800	NM_145292.3	321	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS5929.1	961	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATGAAATT	NONE	.	.	Superfamily_domains:SSF53448,Gene3D:3.90.550.10,hmmpanther:PTHR11675:SF17,hmmpanther:PTHR11675	.	.	ENSP00000376548	.	7/9	.	.	.	.	.	.	.	.	COSM1207879	7/9	PASS	ENST00000392800	Transcript	.	.	ENSG00000106648	21725	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GLTL5_HUMAN	GALNTL5	HGNC	.	.	UPI000013C82E	SNV	GALNTL5,stop_gained,p.Glu321Ter,ENST00000431418,;GALNTL5,stop_gained,p.Glu321Ter,ENST00000392800,;GALNTL5,non_coding_transcript_exon_variant,,ENST00000483959,;GALNTL5,3_prime_UTR_variant,,ENST00000448366,;GALNTL5,3_prime_UTR_variant,,ENST00000414073,;GALNTL5,3_prime_UTR_variant,,ENST00000416269,;GALNTL5,3_prime_UTR_variant,,ENST00000416062,;GALNTL5,3_prime_UTR_variant,,ENST00000426341,;	1215	228	177	SUCCESS
KMT2C	58508	.	GRCh37	7	151944994	151944994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	212	17	286	0	ENST00000262189.6:c.2525C>A	p.Ser842Tyr	p.S842Y	ENST00000262189	NM_170606.2	842	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS5931.1	2525	MUTECT|MUSE|VARSCANS	.	GTTTGGACCGA	NONE	.	.	.	.	.	ENSP00000262189	.	14/59	.	.	.	.	.	.	.	.	.	14/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.961)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Ser842Tyr,ENST00000355193,;KMT2C,missense_variant,p.Ser38Tyr,ENST00000418673,;KMT2C,missense_variant,p.Ser842Tyr,ENST00000262189,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;	2744	286	230	SUCCESS
GRM3	2913	.	GRCh37	7	86493623	86493623	+	synonymous_variant	Silent	SNP	G	G	A	rs368799720	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	89	0	ENST00000361669.2:c.2592G>A	p.Thr864=	p.T864=	ENST00000361669	NM_000840.2	864	acG/acA	0	A:0.0002	.	.	.	.	A	T	protein_coding	YES	CCDS5600.1	2592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGGTGTG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24060,Prints_domain:PR01053	.	A:0	ENSP00000355316	.	6/6	.	.	.	.	.	.	.	.	rs368799720	6/6	PASS	ENST00000361669	Transcript	.	.	ENSG00000198822	4595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM3_HUMAN	GRM3	HGNC	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN	.	UPI0000153EFC	SNV	GRM3,missense_variant,p.Gly509Ser,ENST00000439827,;GRM3,missense_variant,p.Gly507Ser,ENST00000394720,;GRM3,synonymous_variant,p.%3D,ENST00000536043,;GRM3,synonymous_variant,p.%3D,ENST00000361669,;GRM3,synonymous_variant,p.%3D,ENST00000546348,;	3691	89	90	SUCCESS
SGCE	8910	.	GRCh37	7	94285435	94285435	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	78	0	ENST00000265735.7:c.-25G>A		p.*9*	ENST00000265735	NM_003919.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47643.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGTCCTCGA	NONE	.	.	.	.	.	ENSP00000398930	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000445866	Transcript	.	.	ENSG00000127990	10808	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SGCE	HGNC	G5E9K6_HUMAN	.	UPI0000D4E987	SNV	SGCE,5_prime_UTR_variant,,ENST00000447873,;SGCE,5_prime_UTR_variant,,ENST00000415788,;SGCE,5_prime_UTR_variant,,ENST00000445866,;SGCE,5_prime_UTR_variant,,ENST00000437425,;SGCE,5_prime_UTR_variant,,ENST00000265735,;PEG10,upstream_gene_variant,,ENST00000482108,;PEG10,upstream_gene_variant,,ENST00000488574,;SGCE,upstream_gene_variant,,ENST00000428696,;PEG10,upstream_gene_variant,,ENST00000493935,;SGCE,5_prime_UTR_variant,,ENST00000450385,;SGCE,5_prime_UTR_variant,,ENST00000425444,;	2	78	41	SUCCESS
NPTX2	4885	.	GRCh37	7	98254391	98254391	+	synonymous_variant	Silent	SNP	C	C	G	rs779765826	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	54	0	ENST00000265634.3:c.801C>G	p.Pro267=	p.P267=	ENST00000265634	NM_002523.2	267	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5657.1	801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCTTCTC	NONE	byFrequency	.	hmmpanther:PTHR19277:SF1,hmmpanther:PTHR19277,Gene3D:2.60.120.200,Pfam_domain:PF00354,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000265634	.	3/5	.	.	.	.	.	.	.	.	rs779765826	3/5	PASS	ENST00000265634	Transcript	.	.	ENSG00000106236	7953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPTX2_HUMAN	NPTX2	HGNC	.	.	UPI000013040F	SNV	NPTX2,synonymous_variant,p.%3D,ENST00000265634,;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	966	54	40	SUCCESS
VPS13B	157680	.	GRCh37	8	100147862	100147862	+	synonymous_variant	Silent	SNP	G	G	T	rs727504217	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	130	139	0	ENST00000358544.2:c.1464G>T	p.Thr488=	p.T488=	ENST00000358544	NM_017890.4	488	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6280.1	1464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	AGTACGAAAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	.	.	ENSP00000351346	.	11/62	.	.	.	.	.	.	.	.	rs727504217,COSM1094087,COSM1094088	11/62	PASS	ENST00000358544	Transcript	1	.	ENSG00000132549	2183	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	0,1,1	VP13B_HUMAN	VPS13B	HGNC	.	.	UPI00001D2D35	SNV	VPS13B,synonymous_variant,p.%3D,ENST00000355155,;VPS13B,synonymous_variant,p.%3D,ENST00000395996,;VPS13B,synonymous_variant,p.%3D,ENST00000358544,;VPS13B,synonymous_variant,p.%3D,ENST00000357162,;VPS13B,synonymous_variant,p.%3D,ENST00000496144,;	1575	140	211	SUCCESS
RIMS2	9699	.	GRCh37	8	105264026	105264026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	118	127	0	ENST00000406091.3:c.4028G>T	p.Gly1343Val	p.G1343V	ENST00000406091	NM_001100117.2	1343	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS55269.1	4028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGACCTT	NONE	.	.	hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	.	.	ENSP00000384892	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,missense_variant,p.Gly1343Val,ENST00000406091,;RIMS2,missense_variant,p.Gly279Val,ENST00000339750,;RIMS2,missense_variant,p.Gly1157Val,ENST00000507740,;RIMS2,missense_variant,p.Gly1182Val,ENST00000262231,;RIMS2,missense_variant,p.Gly1361Val,ENST00000436393,;RIMS2,downstream_gene_variant,,ENST00000408894,;RIMS2,downstream_gene_variant,,ENST00000523362,;	4028	127	205	SUCCESS
RSPO2	340419	.	GRCh37	8	108970401	108970401	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	112	169	0	ENST00000276659.5:c.523C>T	p.Gln175Ter	p.Q175*	ENST00000276659	NM_178565.4	175	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6307.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTGCCGTG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF2,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000276659	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000276659	Transcript	.	.	ENSG00000147655	28583	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSPO2_HUMAN	RSPO2	HGNC	E5RJU7_HUMAN,E5RHC3_HUMAN,E5RH25_HUMAN,E5RGU9_HUMAN,B3KVP3_HUMAN	.	UPI000021046F	SNV	RSPO2,stop_gained,p.Gln175Ter,ENST00000276659,;RSPO2,stop_gained,p.Gln108Ter,ENST00000521502,;RSPO2,stop_gained,p.Gln108Ter,ENST00000517939,;RSPO2,stop_gained,p.Gln111Ter,ENST00000378439,;RSPO2,stop_gained,p.Gln111Ter,ENST00000517781,;RSPO2,downstream_gene_variant,,ENST00000521757,;RSPO2,downstream_gene_variant,,ENST00000520026,;RSPO2,downstream_gene_variant,,ENST00000521956,;	1144	169	218	SUCCESS
FAM91A1	157769	.	GRCh37	8	124822605	124822605	+	intron_variant	Intron	SNP	A	A	G	rs145578903	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	484	94	358	1	ENST00000334705.7:c.2331+14A>G		p.*777*	ENST00000334705	NM_144963.2			0	G:0.0074	G:0.0091	.	G:0.0014	.	G	.	protein_coding	YES	CCDS6346.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCAAAAAGT	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0001	ENSP00000335082	G:0	.	.	.	.	.	.	.	.	.	rs145578903	.	common_in_exac	ENST00000334705	Transcript	.	G:0.0026	ENSG00000176853	26306	.	.	MODIFIER	23/23	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	F91A1_HUMAN	FAM91A1	HGNC	H0YC80_HUMAN	.	UPI0000E5AF4E	SNV	FAM91A1,missense_variant,p.Lys782Arg,ENST00000521166,;FAM91A1,intron_variant,,ENST00000334705,;FAM91A1,non_coding_transcript_exon_variant,,ENST00000520246,;FAM91A1,intron_variant,,ENST00000518333,;FAM91A1,intron_variant,,ENST00000519721,;FAM91A1,intron_variant,,ENST00000518976,;	.	359	579	SUCCESS
TTI2	80185	.	GRCh37	8	33360968	33360968	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	120	0	ENST00000360742.5:c.1238T>G	p.Leu413Arg	p.L413R	ENST00000360742	NM_025115.3	413	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS6090.1	1238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGAGAAGT	NONE	.	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1,Superfamily_domains:SSF48371	.	.	ENSP00000411169	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious(0.04)	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,missense_variant,p.Leu413Arg,ENST00000431156,;TTI2,missense_variant,p.Leu382Arg,ENST00000520636,;TTI2,missense_variant,p.Leu413Arg,ENST00000360742,;MAK16,downstream_gene_variant,,ENST00000360128,;TTI2,non_coding_transcript_exon_variant,,ENST00000519356,;MAK16,downstream_gene_variant,,ENST00000518389,;	1857	120	73	SUCCESS
MTFR1	9650	.	GRCh37	8	66617100	66617100	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	186	200	0	ENST00000262146.4:c.453T>G	p.Leu151=	p.L151=	ENST00000262146	NM_014637.3	151	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS6182.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTTGCTGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14215,hmmpanther:PTHR14215:SF1,Pfam_domain:PF05308	.	.	ENSP00000262146	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000262146	Transcript	.	.	ENSG00000066855	29510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTFR1_HUMAN	MTFR1	HGNC	E5RJS5_HUMAN	.	UPI000000DA55	SNV	MTFR1,synonymous_variant,p.%3D,ENST00000262146,;MTFR1,synonymous_variant,p.%3D,ENST00000458689,;MTFR1,synonymous_variant,p.%3D,ENST00000518800,;MTFR1,upstream_gene_variant,,ENST00000521247,;MTFR1,upstream_gene_variant,,ENST00000527155,;MTFR1,non_coding_transcript_exon_variant,,ENST00000517944,;MTFR1,downstream_gene_variant,,ENST00000518636,;MTFR1,downstream_gene_variant,,ENST00000522239,;MTFR1,downstream_gene_variant,,ENST00000523170,;MTFR1,upstream_gene_variant,,ENST00000523158,;MTFR1,upstream_gene_variant,,ENST00000520398,;MTFR1,non_coding_transcript_exon_variant,,ENST00000424808,;MTFR1,downstream_gene_variant,,ENST00000523222,;MTFR1,upstream_gene_variant,,ENST00000518352,;	579	200	318	SUCCESS
PRDM14	63978	.	GRCh37	8	70981937	70981937	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	69	0	ENST00000276594.2:c.159C>T	p.Phe53=	p.F53=	ENST00000276594	NM_024504.3	53	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS6206.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGGAAAGG	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354	.	.	ENSP00000276594	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000276594	Transcript	.	.	ENSG00000147596	14001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRD14_HUMAN	PRDM14	HGNC	C9JMM8_HUMAN	.	UPI0000132186	SNV	PRDM14,synonymous_variant,p.%3D,ENST00000426346,;PRDM14,synonymous_variant,p.%3D,ENST00000276594,;	361	69	104	SUCCESS
C8orf47	0	.	GRCh37	8	99101725	99101725	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	6	169	1	ENST00000318528.3:c.480T>C	p.Pro160=	p.P160=	ENST00000318528	NM_173549.2	160	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS34929.1	480	MUTECT|MUSE	.	CAGCCTTTGCA	NONE	.	.	hmmpanther:PTHR23006:SF0,hmmpanther:PTHR23006,Pfam_domain:PF15140	.	.	ENSP00000315614	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000318528	Transcript	.	.	ENSG00000177459	26823	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CH047_HUMAN	C8orf47	HGNC	.	.	UPI0000210389	SNV	C8orf47,synonymous_variant,p.%3D,ENST00000318528,;C8orf47,intron_variant,,ENST00000545282,;	839	170	191	SUCCESS
LMX1B	4010	.	GRCh37	9	129376817	129376817	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	97	0	ENST00000373474.4:c.89T>C	p.Met30Thr	p.M30T	ENST00000373474		30	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS55343.1	89	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATGGAGG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96	.	.	ENSP00000347684	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000355497	Transcript	.	.	ENSG00000136944	6654	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.302)	.	deleterious_low_confidence(0.02)	.	LMX1B_HUMAN	LMX1B	HGNC	Q9UE66_HUMAN,B7ZLH2_HUMAN	.	UPI0001CE94D0	SNV	LMX1B,missense_variant,p.Met7Thr,ENST00000425646,;LMX1B,missense_variant,p.Met30Thr,ENST00000526117,;LMX1B,missense_variant,p.Met7Thr,ENST00000561065,;LMX1B,missense_variant,p.Met30Thr,ENST00000373474,;LMX1B,missense_variant,p.Met30Thr,ENST00000355497,;RP11-123K19.1,upstream_gene_variant,,ENST00000425370,;RP11-123K19.1,upstream_gene_variant,,ENST00000432418,;RP11-123K19.1,upstream_gene_variant,,ENST00000451449,;	96	97	72	SUCCESS
TEK	7010	.	GRCh37	9	27158096	27158096	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs370256501	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	48	207	1	ENST00000380036.4:c.320G>T	p.Arg107Leu	p.R107L	ENST00000380036	NM_000459.3	107	cGa/cTa	0	A:0.0002	.	.	.	.	T	R/L	protein_coding	YES	CCDS6519.1	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCGAGGAG	CODON|p.R107*|c.319C>T|3,CODON|p.R107*|c.319C>T|4	byCluster	.	hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF10430	.	A:0	ENSP00000369375	.	2/23	.	.	.	.	.	.	.	.	rs370256501	2/23	PASS	ENST00000380036	Transcript	.	.	ENSG00000120156	11724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.426)	.	tolerated(0.28)	.	TIE2_HUMAN	TEK	HGNC	.	.	UPI000021121E	SNV	TEK,missense_variant,p.Arg107Leu,ENST00000406359,;TEK,missense_variant,p.Arg107Leu,ENST00000380036,;TEK,intron_variant,,ENST00000519097,;TEK,intron_variant,,ENST00000519080,;	762	208	143	SUCCESS
TLN1	7094	.	GRCh37	9	35707195	35707195	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	47	0	ENST00000314888.9:c.4829C>A	p.Ala1610Asp	p.A1610D	ENST00000314888	NM_006289.3	1610	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS35009.1	4829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGCACTC	NONE	.	.	Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	37/57	.	.	.	.	.	.	.	.	.	37/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Ala1610Asp,ENST00000314888,;TLN1,missense_variant,p.Ala1610Asp,ENST00000540444,;TLN1,intron_variant,,ENST00000464379,;TLN1,downstream_gene_variant,,ENST00000495712,;TLN1,upstream_gene_variant,,ENST00000466916,;TLN1,upstream_gene_variant,,ENST00000465002,;TLN1,upstream_gene_variant,,ENST00000486788,;	5183	47	42	SUCCESS
ROR2	4920	.	GRCh37	9	94486904	94486904	+	synonymous_variant	Silent	SNP	G	G	A	rs780638428	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	95	0	ENST00000375708.3:c.1872C>T	p.Tyr624=	p.Y624=	ENST00000375708	NM_004560.3	624	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6691.1	1872	MUTECT|MUSE	.	TTGTCGTACAC	NONE	byFrequency	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000624,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000364860	.	9/9	.	.	.	.	.	.	.	.	rs780638428,COSM3659478	9/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375715,;ROR2,synonymous_variant,p.%3D,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	2071	95	63	SUCCESS
OR13H1	347468	.	GRCh37	X	130678861	130678861	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	124	258	0	ENST00000338616.3:c.814T>A	p.Phe272Ile	p.F272I	ENST00000338616	NM_001004486.1	272	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS35396.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGTTTATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF76,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000340748	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338616	Transcript	.	.	ENSG00000171054	14755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(1)	.	O13H1_HUMAN	OR13H1	HGNC	.	.	UPI000003CAC9	SNV	OR13H1,missense_variant,p.Phe272Ile,ENST00000338616,;	912	258	230	SUCCESS
IDS	3423	.	GRCh37	X	148564324	148564324	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	40	90	0	ENST00000340855.6:c.1606T>C	p.Tyr536His	p.Y536H	ENST00000340855	NM_001166550.1	536	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	.	973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATACATAT	NONE	.	.	hmmpanther:PTHR10342:SF185,hmmpanther:PTHR10342,Superfamily_domains:SSF53649	.	.	ENSP00000477056	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000422081	Transcript	.	.	ENSG00000241489	5389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	tolerated(0.21)	.	.	IDS	Uniprot_gn	B4DIX1_HUMAN,B3KWA1_HUMAN	.	UPI0000EE78A2	SNV	IDS,missense_variant,p.Tyr325His,ENST00000541269,;IDS,missense_variant,p.Tyr325His,ENST00000422081,;IDS,missense_variant,p.Tyr139His,ENST00000537071,;IDS,missense_variant,p.Tyr536His,ENST00000340855,;IDS,downstream_gene_variant,,ENST00000370441,;IDS,downstream_gene_variant,,ENST00000490775,;IDS,downstream_gene_variant,,ENST00000441880,;IDS,downstream_gene_variant,,ENST00000464251,;IDS,downstream_gene_variant,,ENST00000466323,;	2385	90	61	SUCCESS
RBM10	8241	.	GRCh37	X	47028882	47028882	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	24	64	0	ENST00000329236.7:c.186G>C	p.Glu62Asp	p.E62D	ENST00000329236	NM_001204466.1	62	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS14274.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGGAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13948:SF4,hmmpanther:PTHR13948,Superfamily_domains:SSF54928	.	.	ENSP00000366829	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000377604	Transcript	.	.	ENSG00000182872	9896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.26)	.	RBM10_HUMAN	RBM10	HGNC	.	.	UPI0000070DF1	SNV	RBM10,missense_variant,p.Glu62Asp,ENST00000329236,;RBM10,missense_variant,p.Glu62Asp,ENST00000377604,;RBM10,missense_variant,p.Glu62Asp,ENST00000345781,;	928	64	39	SUCCESS
DLG3	1741	.	GRCh37	X	69669569	69669569	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	47	0	ENST00000374360.3:c.563A>C	p.Glu188Ala	p.E188A	ENST00000374360	NM_021120.3	188	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS14403.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGAGGTGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23119:SF7,hmmpanther:PTHR23119,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50156	.	.	ENSP00000363480	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000374360	Transcript	.	.	ENSG00000082458	2902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.691)	.	deleterious(0)	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,missense_variant,p.Glu206Ala,ENST00000194900,;DLG3,missense_variant,p.Glu188Ala,ENST00000374360,;DLG3,upstream_gene_variant,,ENST00000374355,;RNU4-81P,upstream_gene_variant,,ENST00000363561,;DLG3-AS1,downstream_gene_variant,,ENST00000431103,;DLG3-AS1,downstream_gene_variant,,ENST00000424211,;DLG3,non_coding_transcript_exon_variant,,ENST00000463252,;	796	47	31	SUCCESS
ADAM12	8038	.	GRCh37	10	127753560	127753560	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	32	0	ENST00000368679.4:c.1433C>T	p.Ala478Val	p.A478V	ENST00000368679	NM_003474.4	478	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS7653.1	1433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGCAGGC	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,PROSITE_patterns:PS00427,Pfam_domain:PF00200,Gene3D:4.10.70.10,SMART_domains:SM00050,Superfamily_domains:SSF57552,Prints_domain:PR00289	.	.	ENSP00000357668	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious(0.01)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Ala478Val,ENST00000368679,;ADAM12,missense_variant,p.Ala478Val,ENST00000368676,;ADAM12,non_coding_transcript_exon_variant,,ENST00000467145,;ADAM12,non_coding_transcript_exon_variant,,ENST00000482291,;	1743	32	29	SUCCESS
LRRC27	80313	.	GRCh37	10	134166502	134166502	+	intron_variant	Intron	SNP	C	C	T	rs775938525	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	36	112	1	ENST00000368613.4:c.1073+1245C>T		p.*358*	ENST00000368613	NM_001143757.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31316.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCGATGG	NONE	.	.	.	.	.	ENSP00000357603	.	.	.	.	.	.	.	.	.	.	rs775938525	.	PASS	ENST00000368614	Transcript	.	.	ENSG00000148814	29346	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC27_HUMAN	LRRC27	HGNC	.	.	UPI0000141386	SNV	LRRC27,3_prime_UTR_variant,,ENST00000344079,;LRRC27,3_prime_UTR_variant,,ENST00000368615,;LRRC27,intron_variant,,ENST00000368613,;LRRC27,intron_variant,,ENST00000368614,;LRRC27,intron_variant,,ENST00000392638,;LRRC27,intron_variant,,ENST00000432555,;LRRC27,intron_variant,,ENST00000368612,;LRRC27,intron_variant,,ENST00000368610,;LRRC27,downstream_gene_variant,,ENST00000356571,;LRRC27,downstream_gene_variant,,ENST00000450442,;LRRC27,intron_variant,,ENST00000472556,;LRRC27,intron_variant,,ENST00000475747,;LRRC27,intron_variant,,ENST00000472387,;LRRC27,intron_variant,,ENST00000462656,;LRRC27,downstream_gene_variant,,ENST00000490055,;	.	113	74	SUCCESS
RBP3	5949	.	GRCh37	10	48390301	48390301	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	5	146	0	ENST00000224600.4:c.577A>G	p.Ile193Val	p.I193V	ENST00000224600	NM_002900.2	193	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7218.1	577	MUTECT|MUSE	.	CAGGATGGTGT	NONE	.	.	hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	.	.	ENSP00000224600	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(1)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.Ile193Val,ENST00000224600,;AL731561.2,downstream_gene_variant,,ENST00000581861,;	691	146	109	SUCCESS
PARG	8505	.	GRCh37	10	51040916	51040916	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782151400	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	41	184	0	ENST00000402038.3:c.1125G>T	p.Glu375Asp	p.E375D	ENST00000402038	NM_003631.2	375	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	.	1125	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTCTCTGA	NONE	.	.	hmmpanther:PTHR12837,Pfam_domain:PF05028	.	.	ENSP00000384408	.	12/14	.	.	.	.	.	.	.	.	rs782151400	12/14	PASS	ENST00000402038	Transcript	.	.	ENSG00000227345	8605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	tolerated(0.43)	.	PARG_HUMAN	PARG	HGNC	B4DX76_HUMAN,B4DHS4_HUMAN	.	UPI0000404B69	SNV	PARG,missense_variant,p.Glu375Asp,ENST00000402038,;PARG,non_coding_transcript_exon_variant,,ENST00000492350,;	1125	184	139	SUCCESS
COL13A1	1305	.	GRCh37	10	71688713	71688713	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	10	113	0	ENST00000398978.3:c.1410G>T	p.Gly470=	p.G470=	ENST00000398978	NM_001130103.1	470	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44419.1	1410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGCAAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000381949	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000398978	Transcript	.	.	ENSG00000197467	2190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CODA1_HUMAN	COL13A1	HGNC	Q9UP45_HUMAN	.	UPI000046FD72	SNV	COL13A1,synonymous_variant,p.%3D,ENST00000517713,;COL13A1,synonymous_variant,p.%3D,ENST00000354547,;COL13A1,synonymous_variant,p.%3D,ENST00000398975,;COL13A1,synonymous_variant,p.%3D,ENST00000398978,;COL13A1,synonymous_variant,p.%3D,ENST00000398964,;COL13A1,synonymous_variant,p.%3D,ENST00000398971,;COL13A1,synonymous_variant,p.%3D,ENST00000398966,;COL13A1,synonymous_variant,p.%3D,ENST00000398969,;COL13A1,synonymous_variant,p.%3D,ENST00000398973,;COL13A1,synonymous_variant,p.%3D,ENST00000520133,;COL13A1,synonymous_variant,p.%3D,ENST00000520267,;COL13A1,synonymous_variant,p.%3D,ENST00000522165,;COL13A1,synonymous_variant,p.%3D,ENST00000398968,;COL13A1,synonymous_variant,p.%3D,ENST00000398974,;COL13A1,synonymous_variant,p.%3D,ENST00000356340,;COL13A1,synonymous_variant,p.%3D,ENST00000398972,;COL13A1,synonymous_variant,p.%3D,ENST00000357811,;COL13A1,upstream_gene_variant,,ENST00000456019,;COL13A1,synonymous_variant,p.%3D,ENST00000479733,;	1902	113	59	SUCCESS
PI4K2A	55361	.	GRCh37	10	99400560	99400560	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs989406282	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	32	0	ENST00000370631.3:c.61C>T	p.Pro21Ser	p.P21S	ENST00000370631	NM_018425.2	21	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS7469.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCCGTCG	NONE	.	.	hmmpanther:PTHR12865:SF4,hmmpanther:PTHR12865	.	.	ENSP00000359665	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000370631	Transcript	.	.	ENSG00000155252	30031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	tolerated_low_confidence(0.12)	.	P4K2A_HUMAN	PI4K2A	HGNC	.	.	UPI0000071D95	SNV	PI4K2A,missense_variant,p.Pro21Ser,ENST00000370631,;PI4K2A,intron_variant,,ENST00000370649,;PI4K2A,intron_variant,,ENST00000555577,;	118	32	41	SUCCESS
AMPD3	272	.	GRCh37	11	10527413	10527413	+	synonymous_variant	Silent	SNP	C	C	T	rs766657663	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	42	0	ENST00000396553.2:c.2286C>T	p.Ile762=	p.I762=	ENST00000396553	NM_001025389.1	762	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS7802.1	2313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATCACCGC	NONE	byFrequency	.	hmmpanther:PTHR11359:SF2,hmmpanther:PTHR11359,PIRSF_domain:PIRSF001251	.	.	ENSP00000379802	.	15/15	.	.	.	.	.	.	.	.	rs766657663	15/15	PASS	ENST00000396554	Transcript	.	.	ENSG00000133805	470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMPD3_HUMAN	AMPD3	HGNC	E9PPG2_HUMAN,E9PLK6_HUMAN	.	UPI0000161AFD	SNV	AMPD3,synonymous_variant,p.%3D,ENST00000396553,;AMPD3,synonymous_variant,p.%3D,ENST00000396554,;AMPD3,synonymous_variant,p.%3D,ENST00000529507,;AMPD3,synonymous_variant,p.%3D,ENST00000528723,;AMPD3,synonymous_variant,p.%3D,ENST00000444303,;MTRNR2L8,downstream_gene_variant,,ENST00000536684,;AMPD3,downstream_gene_variant,,ENST00000530864,;AMPD3,3_prime_UTR_variant,,ENST00000534047,;AMPD3,3_prime_UTR_variant,,ENST00000529744,;AMPD3,downstream_gene_variant,,ENST00000529834,;	2654	42	33	SUCCESS
DSCAML1	57453	.	GRCh37	11	117352790	117352790	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1028890107	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	98	0	ENST00000321322.6:c.2627G>A	p.Arg876Gln	p.R876Q	ENST00000321322	NM_020693.2	876	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8384.1	2627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCGCTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000315465	.	12/33	.	.	.	.	.	.	.	.	COSM3699987	12/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.024)	.	tolerated(0.16)	1	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Arg606Gln,ENST00000527706,;DSCAML1,missense_variant,p.Arg876Gln,ENST00000321322,;	2629	98	76	SUCCESS
ATP5L	0	.	GRCh37	11	118277703	118277703	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs782802669	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	39	0	ENST00000300688.3:c.104A>C	p.Lys35Thr	p.K35T	ENST00000300688	NM_006476.4	35	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS8397.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAAGGTTG	NONE	.	.	PIRSF_domain:PIRSF017835,Pfam_domain:PF04718,hmmpanther:PTHR12386	.	.	ENSP00000300688	.	2/3	.	.	.	.	.	.	.	.	rs782802669	2/3	PASS	ENST00000300688	Transcript	.	.	ENSG00000167283	14247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	deleterious(0.02)	.	ATP5L_HUMAN	ATP5L	HGNC	.	.	UPI000004CF5D	SNV	ATP5L,missense_variant,p.Lys35Thr,ENST00000300688,;ATP5L,missense_variant,p.Lys35Thr,ENST00000524422,;ATP5L,non_coding_transcript_exon_variant,,ENST00000529460,;ATP5L,non_coding_transcript_exon_variant,,ENST00000529770,;ATP5L,intron_variant,,ENST00000533172,;ATP5L,non_coding_transcript_exon_variant,,ENST00000527186,;ATP5L,non_coding_transcript_exon_variant,,ENST00000534385,;ATP5L,non_coding_transcript_exon_variant,,ENST00000529790,;	616	39	19	SUCCESS
BCL9L	283149	.	GRCh37	11	118769207	118769207	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775180403	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	79	0	ENST00000334801.3:c.4417C>A	p.Pro1473Thr	p.P1473T	ENST00000334801	NM_182557.2	1473	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8403.1	4417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGGGTGGG	NONE	.	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3	.	.	ENSP00000335320	.	8/8	.	.	.	.	.	.	.	.	rs775180403	8/8	PASS	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.22)	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,missense_variant,p.Pro1473Thr,ENST00000334801,;CXCR5,downstream_gene_variant,,ENST00000292174,;BCL9L,non_coding_transcript_exon_variant,,ENST00000526143,;BCL9L,downstream_gene_variant,,ENST00000527266,;BCL9L,downstream_gene_variant,,ENST00000526514,;BCL9L,downstream_gene_variant,,ENST00000530293,;	5382	79	59	SUCCESS
LRP4	4038	.	GRCh37	11	46921486	46921486	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	47	0	ENST00000378623.1:c.358G>A	p.Gly120Ser	p.G120S	ENST00000378623	NM_002334.3	120	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31478.1	358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCCATTCT	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000367888	.	4/38	.	.	.	.	.	.	.	.	.	4/38	PASS	ENST00000378623	Transcript	.	.	ENSG00000134569	6696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	tolerated(0.06)	.	LRP4_HUMAN	LRP4	HGNC	.	.	UPI0000D625E9	SNV	LRP4,missense_variant,p.Gly71Ser,ENST00000534404,;LRP4,missense_variant,p.Gly120Ser,ENST00000378623,;	601	47	40	SUCCESS
OR5D18	219438	.	GRCh37	11	55587642	55587642	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	26	109	0	ENST00000333976.4:c.537C>T	p.Phe179=	p.F179=	ENST00000333976	NM_001001952.1	179	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS31510.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCTGTGA	BUFFER|p.F182L|c.546C>A|3	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,synonymous_variant,p.%3D,ENST00000333976,;	557	109	90	SUCCESS
PHRF1	57661	.	GRCh37	11	608998	608998	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761451455	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	31	0	ENST00000264555.5:c.3542G>T	p.Arg1181Leu	p.R1181L	ENST00000264555	NM_020901.2	1181	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS44507.1	3539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCGTGAGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	.	.	ENSP00000410626	.	14/18	.	.	.	.	.	.	.	.	rs761451455	14/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	deleterious(0.01)	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,missense_variant,p.Arg1181Leu,ENST00000264555,;PHRF1,missense_variant,p.Arg1179Leu,ENST00000413872,;PHRF1,missense_variant,p.Arg1177Leu,ENST00000533464,;PHRF1,missense_variant,p.Arg1180Leu,ENST00000416188,;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397566,;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000525445,;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000397574,;PHRF1,missense_variant,p.Arg1181Leu,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000533182,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000525750,;	3632	31	23	SUCCESS
FADD	8772	.	GRCh37	11	70049616	70049616	+	synonymous_variant	Silent	SNP	C	C	T	rs1441791156	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	112	0	ENST00000301838.4:c.51C>T	p.Ser17=	p.S17=	ENST00000301838	NM_003824.3	17	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8196.1	51	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGCAGCGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50168,hmmpanther:PTHR15077,Gene3D:1.10.533.10,Pfam_domain:PF01335,PIRSF_domain:PIRSF018586,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000301838	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000301838	Transcript	.	.	ENSG00000168040	3573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FADD_HUMAN	FADD	HGNC	Q6LCG1_HUMAN,Q6LCB0_HUMAN	.	UPI000012A4D1	SNV	FADD,synonymous_variant,p.%3D,ENST00000301838,;RP11-805J14.5,downstream_gene_variant,,ENST00000527232,;RP11-805J14.5,downstream_gene_variant,,ENST00000526174,;	348	112	91	SUCCESS
TSKU	25987	.	GRCh37	11	76506706	76506706	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	33	0	ENST00000333090.4:c.46A>G	p.Thr16Ala	p.T16A	ENST00000333090	NM_015516.3	16	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8246.1	46	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACAACC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24365:SF244,hmmpanther:PTHR24365	.	.	ENSP00000434847	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000527881	Transcript	.	.	ENSG00000182704	28850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.47)	.	TSK_HUMAN	TSKU	HGNC	E9PN12_HUMAN,E9PLG7_HUMAN	.	UPI000006E7B7	SNV	TSKU,missense_variant,p.Thr16Ala,ENST00000533752,;TSKU,missense_variant,p.Thr16Ala,ENST00000333090,;TSKU,missense_variant,p.Thr16Ala,ENST00000525167,;TSKU,missense_variant,p.Thr16Ala,ENST00000527881,;RP11-21L23.2,upstream_gene_variant,,ENST00000566747,;	1072	33	26	SUCCESS
MAPKAPK5	8550	.	GRCh37	12	112280434	112280434	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	38	0	ENST00000551404.2:c.-104G>T		p.*35*	ENST00000551404				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44975.1	.	MUTECT|MUSE	.	GCCACGAGGCC	NONE	.	.	.	.	.	ENSP00000449381	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000551404	Transcript	.	.	ENSG00000089022	6889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAPK5_HUMAN	MAPKAPK5	HGNC	.	.	UPI0000161429	SNV	MAPKAPK5,5_prime_UTR_variant,,ENST00000550735,;MAPKAPK5,5_prime_UTR_variant,,ENST00000551404,;MAPKAPK5,5_prime_UTR_variant,,ENST00000547305,;MAPKAPK5,upstream_gene_variant,,ENST00000549875,;MAPKAPK5-AS1,non_coding_transcript_exon_variant,,ENST00000428207,;MAPKAPK5-AS1,non_coding_transcript_exon_variant,,ENST00000456429,;MAPKAPK5-AS1,upstream_gene_variant,,ENST00000443596,;MAPKAPK5-AS1,upstream_gene_variant,,ENST00000442119,;MAPKAPK5-AS1,upstream_gene_variant,,ENST00000609983,;MAPKAPK5-AS1,upstream_gene_variant,,ENST00000590479,;MAPKAPK5-AS1,upstream_gene_variant,,ENST00000609228,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000546394,;MAPKAPK5,5_prime_UTR_variant,,ENST00000553053,;MAPKAPK5,upstream_gene_variant,,ENST00000602983,;AC003029.1,upstream_gene_variant,,ENST00000507132,;	5	38	53	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19436367	19436367	+	synonymous_variant	Silent	SNP	A	A	G	rs376638119	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	54	0	ENST00000299275.6:c.1449A>G	p.Thr483=	p.T483=	ENST00000299275	NM_019012.5	483	acA/acG	0	G:0.0002	.	.	.	.	G	T	protein_coding	YES	CCDS58213.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACATTAGG	NONE	.	.	hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752	.	G:0	ENSP00000404296	.	12/32	.	.	.	.	.	.	.	.	rs376638119	12/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,synonymous_variant,p.%3D,ENST00000424268,;PLEKHA5,synonymous_variant,p.%3D,ENST00000317589,;PLEKHA5,synonymous_variant,p.%3D,ENST00000543806,;PLEKHA5,synonymous_variant,p.%3D,ENST00000429027,;PLEKHA5,synonymous_variant,p.%3D,ENST00000538714,;PLEKHA5,synonymous_variant,p.%3D,ENST00000539256,;PLEKHA5,synonymous_variant,p.%3D,ENST00000536974,;PLEKHA5,synonymous_variant,p.%3D,ENST00000299275,;PLEKHA5,synonymous_variant,p.%3D,ENST00000355397,;PLEKHA5,synonymous_variant,p.%3D,ENST00000309364,;PLEKHA5,synonymous_variant,p.%3D,ENST00000359180,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;PLEKHA5,upstream_gene_variant,,ENST00000538677,;	1499	54	64	SUCCESS
KRAS	3845	.	GRCh37	12	25398284	25398284	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913529	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	69	164	0	ENST00000256078.4:c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	NM_033360.2	12	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS8703.1	35	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCACCAGCT	SITE|p.G12D|c.35G>A|10719,SITE|p.G12D|c.35G>A|342,CODON|p.G12E|c.35_36GT>AA|3,CODON|p.G12V|c.35_36GT>TC|6,CODON|p.G12W|c.34_36GGT>TGG|3,CODON|p.G12F|c.34_35GG>TT|46,CODON|p.G12Y|c.34_35GG>TA|3,CODON|p.G12I|c.34_35GG>AT|5,CODON|p.G12L|c.34_35GG>CT|8,CODON|p.G12G|c.36T>A|4,CODON|p.G12G|c.36T>C|7,CODON|p.G12V|c.35G>T|7138,CODON|p.G12V|c.35G>T|329,CODON|p.G12A|c.35G>C|1694,CODON|p.G12A|c.35G>C|39,BUFFER|p.G13_V14insG|c.39_40insGGC|3,BUFFER|p.G13D|c.38_39GC>AT|22,BUFFER|p.G13V|c.38_39GC>TT|6,BUFFER|p.V14I|c.40G>A|16,BUFFER|p.G13G|c.39C>T|7,BUFFER|p.G13G|c.39C>A|9,BUFFER|p.G13G|c.39C>G|3,BUFFER|p.G13V|c.38G>T|30,BUFFER|p.G13D|c.38G>A|3959,BUFFER|p.G13A|c.38G>C|30,BUFFER|p.G13D|c.38G>A|76,BUFFER|p.G13C|c.37G>T|276,BUFFER|p.G13S|c.37G>A|67,BUFFER|p.G13R|c.37G>C|50,BUFFER|p.G13C|c.37G>T|10,BUFFER|p.G12_G13insG|c.36_37insGGT|5,BUFFER|p.G12R|c.34G>C|1024,BUFFER|p.G12S|c.34G>A|1507,BUFFER|p.G12C|c.34G>T|3713,BUFFER|p.G12S|c.34G>A|27,BUFFER|p.G12C|c.34G>T|80,BUFFER|p.G12R|c.34G>C|101,BUFFER|p.A11V|c.32C>T|3,BUFFER|p.G10_A11insG|c.30_31insGGA|5,BUFFER|p.V8V|c.24A>G|3	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,PROSITE_profiles:PS51421	.	.	ENSP00000256078	.	2/6	.	.	.	.	.	.	.	.	CM087372,COSM520,COSM521,COSM522,COSM12657,COSM1140133,COSM1135366,COSM1140134	2/6	PASS	ENST00000256078	Transcript	.	.	ENSG00000133703	6407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1,1,1	.	.	benign(0.361)	.	deleterious(0)	0,1,1,1,1,1,1,1	RASK_HUMAN	KRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN	.	UPI0000133132	SNV	KRAS,missense_variant,p.Gly12Asp,ENST00000256078,;KRAS,missense_variant,p.Gly12Asp,ENST00000311936,;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	99	164	151	SUCCESS
ARID2	196528	.	GRCh37	12	46123902	46123902	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	39	111	0	ENST00000334344.6:c.170del	p.Leu57Ter	p.L57*	ENST00000334344	NM_152641.2	56	acT/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS31783.1	168	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTACTTTAGG	NONE	.	.	PROSITE_profiles:PS51011,hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Pfam_domain:PF01388,Gene3D:1.10.150.60,SMART_domains:SM01014,SMART_domains:SM00501,Superfamily_domains:SSF46774	.	.	ENSP00000335044	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	deletion	ARID2,frameshift_variant,p.Leu57Ter,ENST00000334344,;ARID2,5_prime_UTR_variant,,ENST00000422737,;LINC00938,upstream_gene_variant,,ENST00000609803,;ARID2,non_coding_transcript_exon_variant,,ENST00000427628,;ARID2,non_coding_transcript_exon_variant,,ENST00000426776,;	340	111	145	SUCCESS
ARID2	196528	.	GRCh37	12	46246499	46246499	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	71	0	ENST00000334344.6:c.4595del	p.Asn1532IlefsTer3	p.N1532Ifs*3	ENST00000334344	NM_152641.2	1531	ccA/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS31783.1	4593	INDELOCATOR|VARSCANI	.	AATTCCAAATAA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	deletion	ARID2,frameshift_variant,p.Asn1532IlefsTer3,ENST00000334344,;ARID2,frameshift_variant,p.Asn1142IlefsTer3,ENST00000444670,;ARID2,frameshift_variant,p.Asn1383IlefsTer3,ENST00000422737,;ARID2,frameshift_variant,p.Asn140IlefsTer3,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	4765	71	86	SUCCESS
COPZ1	22818	.	GRCh37	12	54736037	54736037	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	28	106	0	ENST00000262061.2:c.135G>T	p.Glu45Asp	p.E45D	ENST00000262061	NM_001271736.1	45	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS8877.1	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGAAGAA	NONE	.	.	Superfamily_domains:SSF64356,Gene3D:3.30.450.60,Pfam_domain:PF01217,hmmpanther:PTHR11043:SF2,hmmpanther:PTHR11043	.	.	ENSP00000262061	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000262061	Transcript	.	.	ENSG00000111481	2243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	COPZ1_HUMAN	COPZ1	HGNC	F8VYZ4_HUMAN,F8VYK5_HUMAN,F8VXB1_HUMAN	.	UPI000000416D	SNV	COPZ1,missense_variant,p.Glu22Asp,ENST00000553231,;COPZ1,missense_variant,p.Glu45Asp,ENST00000552218,;COPZ1,missense_variant,p.Glu22Asp,ENST00000455864,;COPZ1,missense_variant,p.Glu45Asp,ENST00000552848,;COPZ1,missense_variant,p.Glu45Asp,ENST00000552362,;COPZ1,missense_variant,p.Glu53Asp,ENST00000549043,;COPZ1,missense_variant,p.Arg25Ile,ENST00000416254,;COPZ1,missense_variant,p.Glu45Asp,ENST00000551779,;COPZ1,missense_variant,p.Glu45Asp,ENST00000262061,;COPZ1,missense_variant,p.Glu53Asp,ENST00000550713,;COPZ1,5_prime_UTR_variant,,ENST00000548753,;COPZ1,intron_variant,,ENST00000549116,;MIR148B,downstream_gene_variant,,ENST00000362252,;RP11-968A15.8,intron_variant,,ENST00000553061,;RN7SL744P,upstream_gene_variant,,ENST00000577604,;COPZ1,non_coding_transcript_exon_variant,,ENST00000548281,;COPZ1,non_coding_transcript_exon_variant,,ENST00000548076,;COPZ1,missense_variant,p.Glu45Asp,ENST00000550171,;COPZ1,missense_variant,p.Glu45Asp,ENST00000551962,;COPZ1,non_coding_transcript_exon_variant,,ENST00000553009,;COPZ1,non_coding_transcript_exon_variant,,ENST00000551412,;COPZ1,non_coding_transcript_exon_variant,,ENST00000550027,;	172	106	85	SUCCESS
RPL41	6171	.	GRCh37	12	56510512	56510512	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	74	0	ENST00000501597.3:c.-13-47G>A		p.*5*	ENST00000501597	NM_021104.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44919.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTAGCATCA	NONE	.	.	.	.	.	ENSP00000449026	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000546591	Transcript	.	.	ENSG00000229117	10354	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL41_HUMAN	RPL41	HGNC	.	.	UPI0000000DDF	SNV	RPL41,5_prime_UTR_variant,,ENST00000546591,;RPL41,intron_variant,,ENST00000501597,;ZC3H10,upstream_gene_variant,,ENST00000257940,;ZC3H10,upstream_gene_variant,,ENST00000546903,;PA2G4,downstream_gene_variant,,ENST00000552766,;ZC3H10,upstream_gene_variant,,ENST00000551880,;PA2G4,downstream_gene_variant,,ENST00000303305,;ESYT1,upstream_gene_variant,,ENST00000551790,;ZC3H10,upstream_gene_variant,,ENST00000552345,;RP11-603J24.5,downstream_gene_variant,,ENST00000549438,;RP11-603J24.5,downstream_gene_variant,,ENST00000550947,;RP11-603J24.6,downstream_gene_variant,,ENST00000550840,;RP11-603J24.17,upstream_gene_variant,,ENST00000548595,;RPL41,intron_variant,,ENST00000358888,;RPL41,intron_variant,,ENST00000546485,;RPL41,upstream_gene_variant,,ENST00000546654,;ZC3H10,upstream_gene_variant,,ENST00000549973,;RPL41,upstream_gene_variant,,ENST00000552314,;	143	74	69	SUCCESS
CHD4	1108	.	GRCh37	12	6703766	6703778	+	frameshift_variant	Frame_Shift_Del	DEL	TCCACCTGTAGCA	TCCACCTGTAGCA	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	TCCACCTGTAGCA	TCCACCTGTAGCA	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	93	0	ENST00000357008.2:c.2160_2172del	p.Asp720GlufsTer11	p.D720Efs*11	ENST00000357008	NM_001273.2	720	gaTGCTACAGGTGGA/ga	0	.	.	.	.	.	-	DATGG/X	protein_coding	YES	CCDS8552.1	2160-2172	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGGTTCCACCTGTAGCATCCAG	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000349508	.	15/40	.	.	.	.	.	.	.	.	.	15/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	deletion	CHD4,frameshift_variant,p.Asp717GlufsTer11,ENST00000544484,;CHD4,frameshift_variant,p.Asp720GlufsTer11,ENST00000309577,;CHD4,frameshift_variant,p.Asp713GlufsTer11,ENST00000544040,;CHD4,frameshift_variant,p.Asp720GlufsTer11,ENST00000357008,;CHD4,upstream_gene_variant,,ENST00000536301,;CHD4,downstream_gene_variant,,ENST00000536999,;CHD4,upstream_gene_variant,,ENST00000545083,;CHD4,upstream_gene_variant,,ENST00000537634,;	2324-2336	93	112	SUCCESS
SLC35E3	55508	.	GRCh37	12	69140077	69140077	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	14	0	ENST00000398004.2:c.-81C>A		p.*27*	ENST00000398004	NM_018656.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41808.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGACGCGGC	NONE	.	.	.	.	.	ENSP00000381089	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000398004	Transcript	.	.	ENSG00000175782	20864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35E3_HUMAN	SLC35E3	HGNC	.	.	UPI0000048F4D	SNV	SLC35E3,5_prime_UTR_variant,,ENST00000398004,;NUP107,downstream_gene_variant,,ENST00000229179,;NUP107,downstream_gene_variant,,ENST00000378905,;NUP107,downstream_gene_variant,,ENST00000539906,;SLC35E3,upstream_gene_variant,,ENST00000319429,;NUP107,downstream_gene_variant,,ENST00000535718,;	192	14	14	SUCCESS
PTPRB	5787	.	GRCh37	12	70953301	70953301	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	44	144	0	ENST00000261266.5:c.3882G>A	p.Glu1294=	p.E1294=	ENST00000261266	NM_002837.4	1294	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS44943.1	4536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCTCAAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	18/34	.	.	.	.	.	.	.	.	.	18/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;	4581	144	163	SUCCESS
ALX1	8092	.	GRCh37	12	85677457	85677457	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	38	114	0	ENST00000316824.3:c.334G>A	p.Glu112Lys	p.E112K	ENST00000316824	NM_006982.2	112	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9028.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAGAGAAG	NONE	.	.	hmmpanther:PTHR24329:SF277,hmmpanther:PTHR24329,Gene3D:1.10.10.60	.	.	ENSP00000315417	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000316824	Transcript	.	.	ENSG00000180318	1494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.05)	.	ALX1_HUMAN	ALX1	HGNC	.	.	UPI000013FEBD	SNV	ALX1,missense_variant,p.Glu112Lys,ENST00000316824,;	489	114	113	SUCCESS
EEA1	8411	.	GRCh37	12	93205145	93205145	+	synonymous_variant	Silent	SNP	A	A	G	rs1401314944	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	33	50	0	ENST00000322349.8:c.2109T>C	p.His703=	p.H703=	ENST00000322349	NM_003566.3	703	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS31874.1	2109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAATGTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23164:SF2,hmmpanther:PTHR23164	.	.	ENSP00000317955	.	17/29	.	.	.	.	.	.	.	.	.	17/29	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,synonymous_variant,p.%3D,ENST00000322349,;EEA1,downstream_gene_variant,,ENST00000549790,;EEA1,3_prime_UTR_variant,,ENST00000418984,;	2374	50	56	SUCCESS
CARS2	79587	.	GRCh37	13	111335421	111335421	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs773483383	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	41	0	ENST00000257347.4:c.632T>G	p.Val211Gly	p.V211G	ENST00000257347	NM_024537.2	211	gTc/gGc	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS9514.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGACCACG	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_00041,hmmpanther:PTHR10890,hmmpanther:PTHR10890:SF6,Gene3D:3.40.50.620,Pfam_domain:PF01406,TIGRFAM_domain:TIGR00435,Superfamily_domains:SSF52374	.	.	ENSP00000257347	.	6/15	.	.	.	.	.	.	.	.	rs773483383	6/15	PASS	ENST00000257347	Transcript	.	.	ENSG00000134905	25695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.3)	.	SYCM_HUMAN	CARS2	HGNC	.	.	UPI0000046055	SNV	CARS2,missense_variant,p.Val211Gly,ENST00000257347,;CARS2,downstream_gene_variant,,ENST00000542709,;CARS2,non_coding_transcript_exon_variant,,ENST00000544488,;CARS2,non_coding_transcript_exon_variant,,ENST00000535398,;CARS2,non_coding_transcript_exon_variant,,ENST00000541443,;CARS2,non_coding_transcript_exon_variant,,ENST00000465145,;CARS2,downstream_gene_variant,,ENST00000542126,;CARS2,upstream_gene_variant,,ENST00000543487,;CARS2,downstream_gene_variant,,ENST00000540629,;CARS2,3_prime_UTR_variant,,ENST00000539269,;CARS2,non_coding_transcript_exon_variant,,ENST00000481787,;CARS2,downstream_gene_variant,,ENST00000537394,;	696	41	37	SUCCESS
N4BP2L2	10443	.	GRCh37	13	33110720	33110720	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs375163250	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	176	0	ENST00000267068.3:c.445A>G	p.Ile149Val	p.I149V	ENST00000267068	NM_014887.2	149	Ata/Gta	0	C:0.0002	.	.	.	.	C	.	protein_coding	YES	CCDS45024.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATACCAT	NONE	byFrequency|byCluster	.	.	.	C:0	ENSP00000382328	.	.	.	.	.	.	.	.	.	.	rs375163250	.	PASS	ENST00000399396	Transcript	.	.	ENSG00000244754	26916	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	N42L2_HUMAN	N4BP2L2	HGNC	Q6ZV26_HUMAN,B4DPY1_HUMAN	.	UPI00015C73C2	SNV	N4BP2L2,missense_variant,p.Ile149Val,ENST00000446957,;N4BP2L2,missense_variant,p.Ile149Val,ENST00000267068,;N4BP2L2,missense_variant,p.Ile149Val,ENST00000505213,;N4BP2L2,intron_variant,,ENST00000504114,;N4BP2L2,intron_variant,,ENST00000357505,;N4BP2L2,intron_variant,,ENST00000399396,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000483088,;N4BP2L2,intron_variant,,ENST00000511143,;N4BP2L2,upstream_gene_variant,,ENST00000475731,;N4BP2L2,upstream_gene_variant,,ENST00000512755,;	.	176	131	SUCCESS
IGHA1	3493	.	GRCh37	14	106174148	106174148	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767197822	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	136	0	ENST00000390547.2:c.641C>G	p.Pro214Arg	p.P214R	ENST00000390547		214	cCg/cGg	0	.	.	.	.	.	C	P/R	IG_C_gene	YES	.	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCGGGGTC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374989	.	2/3	.	.	.	.	.	.	.	.	rs767197822	2/3	PASS	ENST00000390547	Transcript	.	.	ENSG00000211895	5478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.5)	.	deleterious(0.02)	.	IGHA1_HUMAN	IGHA1	HGNC	Q9UP60_HUMAN,Q96K68_HUMAN,Q8NCL6_HUMAN,Q6MZW0_HUMAN	.	UPI000004718D	SNV	IGHA1,missense_variant,p.Pro214Arg,ENST00000390547,;AL928768.3,upstream_gene_variant,,ENST00000497872,;AL901608.1,downstream_gene_variant,,ENST00000581070,;	641	136	90	SUCCESS
RIPK3	11035	.	GRCh37	14	24808429	24808429	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	47	0	ENST00000216274.5:c.263C>T	p.Pro88Leu	p.P88L	ENST00000216274	NM_006871.3	88	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9628.1	263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGGGATCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF346,hmmpanther:PTHR23257,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000216274	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000216274	Transcript	.	.	ENSG00000129465	10021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.44)	.	RIPK3_HUMAN	RIPK3	HGNC	.	.	UPI00000369E2	SNV	RIPK3,missense_variant,p.Pro88Leu,ENST00000216274,;ADCY4,upstream_gene_variant,,ENST00000396747,;RIPK3,upstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000559167,;ADCY4,upstream_gene_variant,,ENST00000310677,;RP11-934B9.3,upstream_gene_variant,,ENST00000555591,;RIPK3,non_coding_transcript_exon_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,missense_variant,p.Pro88Leu,ENST00000554756,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557253,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557624,;RIPK3,downstream_gene_variant,,ENST00000557662,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;	482	47	53	SUCCESS
NID2	22795	.	GRCh37	14	52520800	52520800	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	5	87	0	ENST00000216286.5:c.1007T>C	p.Leu336Ser	p.L336S	ENST00000216286	NM_007361.3	336	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS9706.1	1007	MUTECT|MUSE	.	CATTCAATGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000216286	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.6)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Leu283Ser,ENST00000541773,;NID2,missense_variant,p.Leu336Ser,ENST00000216286,;	1007	87	93	SUCCESS
TBPL2	387332	.	GRCh37	14	55881125	55881125	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	91	0	ENST00000247219.5:c.1100C>A	p.Pro367His	p.P367H	ENST00000247219	NM_199047.2	367	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS9724.1	1100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAGGATAG	NONE	.	.	HAMAP:MF_00408,hmmpanther:PTHR10126,hmmpanther:PTHR10126:SF17,PROSITE_patterns:PS00351,Pfam_domain:PF00352,Gene3D:3.30.310.10,Superfamily_domains:SSF55945	.	.	ENSP00000247219	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000247219	Transcript	.	.	ENSG00000182521	19841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0.01)	.	TBPL2_HUMAN	TBPL2	HGNC	G3V454_HUMAN	.	UPI0000226668	SNV	TBPL2,missense_variant,p.Pro367His,ENST00000247219,;ATG14,upstream_gene_variant,,ENST00000247178,;RPL21P6,upstream_gene_variant,,ENST00000479171,;	1171	91	37	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68274609	68274609	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs766869217	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	85	0	ENST00000347230.4:c.392C>T	p.Ala131Val	p.A131V	ENST00000347230	NM_015346.3	131	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9788.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTGCACCC	NONE	.	.	.	.	.	ENSP00000251119	.	5/42	.	.	.	.	.	.	.	.	rs766869217	5/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.33)	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,missense_variant,p.Ala131Val,ENST00000555452,;ZFYVE26,missense_variant,p.Ala131Val,ENST00000347230,;ZFYVE26,missense_variant,p.Ala131Val,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	531	85	55	SUCCESS
ESRRB	2103	.	GRCh37	14	76905705	76905705	+	synonymous_variant	Silent	SNP	G	G	A	rs755277884	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	88	0	ENST00000380887.2:c.9G>A	p.Ser3=	p.S3=	ENST00000380887		3	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9850.2	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGGACGA	NONE	byFrequency	.	hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939	.	.	ENSP00000370270	.	2/9	.	.	.	.	.	.	.	.	rs755277884	2/9	PASS	ENST00000380887	Transcript	.	.	ENSG00000119715	3473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERR2_HUMAN	ESRRB	HGNC	Q9HCB2_HUMAN	.	UPI000003157B	SNV	ESRRB,synonymous_variant,p.%3D,ENST00000556177,;ESRRB,synonymous_variant,p.%3D,ENST00000512784,;ESRRB,synonymous_variant,p.%3D,ENST00000509242,;ESRRB,synonymous_variant,p.%3D,ENST00000380887,;ESRRB,synonymous_variant,p.%3D,ENST00000261532,;ESRRB,non_coding_transcript_exon_variant,,ENST00000507951,;ESRRB,upstream_gene_variant,,ENST00000509323,;ESRRB,synonymous_variant,p.%3D,ENST00000505752,;	81	88	61	SUCCESS
CCDC88C	440193	.	GRCh37	14	91779756	91779756	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	22	0	ENST00000389857.6:c.2404G>C	p.Asp802His	p.D802H	ENST00000389857	NM_001080414.3	802	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS45151.1	2404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCCGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31	.	.	ENSP00000374507	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000389857	Transcript	1	.	ENSG00000015133	19967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0.02)	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,missense_variant,p.Asp802His,ENST00000389857,;CCDC88C,downstream_gene_variant,,ENST00000557507,;	2491	22	25	SUCCESS
SERPINA3	12	.	GRCh37	14	95078759	95078759	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	85	0	ENST00000393080.4:c.-30C>T		p.*10*	ENST00000393080				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32150.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCAGCTA	NONE	.	.	.	.	.	ENSP00000450540	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000467132	Transcript	1	.	ENSG00000196136	16	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AACT_HUMAN	SERPINA3	HGNC	G3V5I3_HUMAN,G3V3A0_HUMAN	.	UPI000012509B	SNV	SERPINA3,5_prime_UTR_variant,,ENST00000393078,;SERPINA3,5_prime_UTR_variant,,ENST00000467132,;SERPINA3,5_prime_UTR_variant,,ENST00000393080,;SERPINA3,non_coding_transcript_exon_variant,,ENST00000556388,;SERPINA3,non_coding_transcript_exon_variant,,ENST00000485588,;SERPINA3,synonymous_variant,p.%3D,ENST00000555820,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;SERPINA3,5_prime_UTR_variant,,ENST00000556968,;	32	85	72	SUCCESS
DICER1	23405	.	GRCh37	14	95574719	95574719	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs527568726	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	74	0	ENST00000343455.3:c.2378A>G	p.Tyr793Cys	p.Y793C	ENST00000343455	NM_177438.2	793	tAt/tGt	0	.	C:0.0008	.	C:0	.	C	Y/C	protein_coding	YES	CCDS9931.1	2378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGATAGAGC	NONE	by1000G	.	hmmpanther:PTHR14950:SF3,hmmpanther:PTHR14950	C:0	.	ENSP00000437256	C:0	17/29	.	.	.	.	.	.	.	.	rs527568726	17/29	PASS	ENST00000526495	Transcript	1	C:0.0002	ENSG00000100697	17098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	C:0	deleterious(0.04)	.	DICER_HUMAN	DICER1	HGNC	Q5D0K5_HUMAN,B3KMJ0_HUMAN	.	UPI0000168662	SNV	DICER1,missense_variant,p.Tyr793Cys,ENST00000343455,;DICER1,missense_variant,p.Tyr793Cys,ENST00000541352,;DICER1,missense_variant,p.Tyr793Cys,ENST00000527414,;DICER1,missense_variant,p.Tyr793Cys,ENST00000526495,;DICER1,missense_variant,p.Tyr793Cys,ENST00000393063,;DICER1,upstream_gene_variant,,ENST00000532939,;DICER1,upstream_gene_variant,,ENST00000556045,;DICER1,downstream_gene_variant,,ENST00000532458,;DICER1,upstream_gene_variant,,ENST00000556681,;DICER1,upstream_gene_variant,,ENST00000554367,;	2670	74	66	SUCCESS
BDKRB2	624	.	GRCh37	14	96707560	96707560	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769027698	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	42	0	ENST00000554311.1:c.895G>A	p.Gly299Ser	p.G299S	ENST00000554311		299	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS9942.1	895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGGCATC	NONE	byFrequency	.	Prints_domain:PR00994,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24228:SF25,hmmpanther:PTHR24228,PROSITE_profiles:PS50262	.	.	ENSP00000307713	.	3/3	.	.	.	.	.	.	.	.	rs769027698	3/3	PASS	ENST00000306005	Transcript	.	.	ENSG00000168398	1030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.5)	.	BKRB2_HUMAN	BDKRB2	HGNC	.	.	UPI00000503EB	SNV	BDKRB2,missense_variant,p.Gly299Ser,ENST00000554311,;BDKRB2,missense_variant,p.Gly272Ser,ENST00000542454,;BDKRB2,missense_variant,p.Gly299Ser,ENST00000306005,;BDKRB2,missense_variant,p.Gly272Ser,ENST00000539359,;RP11-404P21.8,intron_variant,,ENST00000553811,;RP11-404P21.8,upstream_gene_variant,,ENST00000555847,;	1091	42	49	SUCCESS
SNRPN	6638	.	GRCh37	15	25222974	25222974	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs775190561	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	44	0	ENST00000346403.6:c.470C>A	p.Ala157Glu	p.A157E	ENST00000346403		157	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS10017.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCGACTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10701:SF1,hmmpanther:PTHR10701,PIRSF_domain:PIRSF037187	.	.	ENSP00000382972	.	11/13	.	.	.	.	.	.	.	.	rs775190561	11/13	PASS	ENST00000400100	Transcript	1	.	ENSG00000128739	11164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.14)	.	RSMN_HUMAN	SNRPN	HGNC	Q9UKR4_HUMAN,Q6LBS1_HUMAN,J3QLE5_HUMAN,J3KRY3_HUMAN	.	UPI000002948A	SNV	SNRPN,missense_variant,p.Ala157Glu,ENST00000400100,;SNRPN,missense_variant,p.Ala157Glu,ENST00000400098,;SNRPN,missense_variant,p.Ala157Glu,ENST00000400097,;SNRPN,missense_variant,p.Ala161Glu,ENST00000554227,;SNRPN,missense_variant,p.Ala157Glu,ENST00000390687,;SNRPN,missense_variant,p.Ala157Glu,ENST00000579070,;SNRPN,missense_variant,p.Ala161Glu,ENST00000444203,;SNRPN,missense_variant,p.Ala157Glu,ENST00000577565,;SNRPN,missense_variant,p.Ala157Glu,ENST00000346403,;SNURF,3_prime_UTR_variant,,ENST00000338094,;SNRPN,downstream_gene_variant,,ENST00000584968,;SNHG14,upstream_gene_variant,,ENST00000459433,;SNHG14,upstream_gene_variant,,ENST00000551631,;SNHG14,upstream_gene_variant,,ENST00000551361,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,3_prime_UTR_variant,,ENST00000580062,;SNURF,3_prime_UTR_variant,,ENST00000557230,;SNURF,intron_variant,,ENST00000551312,;SNHG14,upstream_gene_variant,,ENST00000557108,;	1360	44	37	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42126967	42126967	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	78	0	ENST00000382448.4:c.94C>T	p.Leu32=	p.L32=	ENST00000382448		32	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32202.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCTGGAC	NONE	.	.	Superfamily_domains:SSF51197	.	.	ENSP00000371886	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000382448	Transcript	.	.	ENSG00000168970	34449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	JMJD7-PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000342159,;PLA2G4B,synonymous_variant,p.%3D,ENST00000542534,;JMJD7,synonymous_variant,p.%3D,ENST00000397299,;JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000382448,;JMJD7,5_prime_UTR_variant,,ENST00000431823,;JMJD7,intron_variant,,ENST00000408047,;PLA2G4B,upstream_gene_variant,,ENST00000458483,;PLA2G4B,upstream_gene_variant,,ENST00000452633,;JMJD7,non_coding_transcript_exon_variant,,ENST00000562035,;JMJD7,non_coding_transcript_exon_variant,,ENST00000405106,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000476036,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,upstream_gene_variant,,ENST00000461382,;JMJD7,upstream_gene_variant,,ENST00000478178,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000487292,;	103	78	54	SUCCESS
ELL3	80237	.	GRCh37	15	44069356	44069356	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	22	0	ENST00000319359.3:c.-257T>C		p.*86*	ENST00000319359	NM_025165.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10102.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTATCGGA	NONE	.	.	.	.	.	ENSP00000320346	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000319359	Transcript	.	.	ENSG00000128886	23113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELL3_HUMAN	ELL3	HGNC	.	.	UPI0000073384	SNV	ELL3,5_prime_UTR_variant,,ENST00000433927,;SERF2,5_prime_UTR_variant,,ENST00000381359,;ELL3,5_prime_UTR_variant,,ENST00000319359,;PDIA3,downstream_gene_variant,,ENST00000300289,;SERF2,non_coding_transcript_exon_variant,,ENST00000474290,;ELL3,upstream_gene_variant,,ENST00000497465,;ELL3,upstream_gene_variant,,ENST00000497530,;ELL3,upstream_gene_variant,,ENST00000476335,;RP11-296A16.1,intron_variant,,ENST00000417761,;ELL3,upstream_gene_variant,,ENST00000497700,;ELL3,upstream_gene_variant,,ENST00000486851,;ELL3,upstream_gene_variant,,ENST00000467869,;	386	22	17	SUCCESS
GLCE	26035	.	GRCh37	15	69560737	69560737	+	synonymous_variant	Silent	SNP	T	T	C	rs1307137757	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	91	0	ENST00000261858.2:c.1008T>C	p.Asp336=	p.D336=	ENST00000261858	NM_015554.1	336	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS32277.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATATATA	NONE	.	.	hmmpanther:PTHR13174	.	.	ENSP00000261858	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261858	Transcript	.	.	ENSG00000138604	17855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLCE_HUMAN	GLCE	HGNC	H0YNP1_HUMAN	.	UPI00001D7785	SNV	GLCE,synonymous_variant,p.%3D,ENST00000261858,;GLCE,synonymous_variant,p.%3D,ENST00000559420,;GLCE,non_coding_transcript_exon_variant,,ENST00000559500,;	1236	91	82	SUCCESS
NEO1	4756	.	GRCh37	15	73541427	73541427	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	57	1	ENST00000261908.6:c.1633C>T	p.Leu545Phe	p.L545F	ENST00000261908	NM_002499.3	545	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS10247.1	1633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACCTTCGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000341198	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.09)	.	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,missense_variant,p.Leu545Phe,ENST00000261908,;NEO1,missense_variant,p.Leu545Phe,ENST00000558964,;NEO1,missense_variant,p.Leu545Phe,ENST00000339362,;NEO1,missense_variant,p.Leu241Phe,ENST00000560328,;NEO1,missense_variant,p.Leu545Phe,ENST00000560262,;NEO1,non_coding_transcript_exon_variant,,ENST00000560352,;NEO1,downstream_gene_variant,,ENST00000560407,;	2080	58	38	SUCCESS
CHRNA3	1136	.	GRCh37	15	78894345	78894345	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	105	0	ENST00000326828.5:c.639A>T	p.Pro213=	p.P213=	ENST00000326828	NM_000743.4	213	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10305.1	639	MUTECT|MUSE	.	TAGCCTGGGGC	NONE	.	.	hmmpanther:PTHR18945:SF445,hmmpanther:PTHR18945,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000315602	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000326828	Transcript	1	.	ENSG00000080644	1957	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHA3_HUMAN	CHRNA3	HGNC	Q6EWN2_HUMAN,B4DP53_HUMAN	.	UPI000013D783	SNV	CHRNA3,synonymous_variant,p.%3D,ENST00000326828,;CHRNA3,synonymous_variant,p.%3D,ENST00000348639,;CHRNA3,non_coding_transcript_exon_variant,,ENST00000558903,;CHRNA3,synonymous_variant,p.%3D,ENST00000559658,;	1024	105	86	SUCCESS
ANPEP	290	.	GRCh37	15	90335706	90335706	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	31	114	0	ENST00000300060.6:c.2337G>A	p.Trp779Ter	p.W779*	ENST00000300060	NM_001150.2	779	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS10356.1	2337	RADIA|MUTECT|MUSE	.	TCCATCCACTG	NONE	.	.	hmmpanther:PTHR11533:SF149,hmmpanther:PTHR11533,Pfam_domain:PF11838	.	.	ENSP00000300060	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000300060	Transcript	.	.	ENSG00000166825	500	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMPN_HUMAN	ANPEP	HGNC	Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN	.	UPI00001AECCF	SNV	ANPEP,stop_gained,p.Trp779Ter,ENST00000300060,;ANPEP,non_coding_transcript_exon_variant,,ENST00000558740,;ANPEP,downstream_gene_variant,,ENST00000559761,;	2651	114	91	SUCCESS
ANPEP	290	.	GRCh37	15	90335708	90335708	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	116	0	ENST00000300060.6:c.2335T>G	p.Trp779Gly	p.W779G	ENST00000300060	NM_001150.2	779	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS10356.1	2335	RADIA|MUTECT|MUSE	.	CATCCACTGCT	NONE	.	.	hmmpanther:PTHR11533:SF149,hmmpanther:PTHR11533,Pfam_domain:PF11838	.	.	ENSP00000300060	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000300060	Transcript	.	.	ENSG00000166825	500	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	AMPN_HUMAN	ANPEP	HGNC	Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN	.	UPI00001AECCF	SNV	ANPEP,missense_variant,p.Trp779Gly,ENST00000300060,;ANPEP,non_coding_transcript_exon_variant,,ENST00000558740,;ANPEP,downstream_gene_variant,,ENST00000559761,;	2649	116	89	SUCCESS
ZC3H7A	29066	.	GRCh37	16	11859416	11859416	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	52	0	ENST00000355758.4:c.1648A>T	p.Asn550Tyr	p.N550Y	ENST00000355758	NM_014153.3	550	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS10550.1	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATTGCCGC	NONE	.	.	hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF13	.	.	ENSP00000379773	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000396516	Transcript	.	.	ENSG00000122299	30959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	tolerated(0.81)	.	Z3H7A_HUMAN	ZC3H7A	HGNC	I3L3S2_HUMAN,I3L3F9_HUMAN,I3L382_HUMAN,I3L1Y3_HUMAN	.	UPI000000DB79	SNV	ZC3H7A,missense_variant,p.Asn550Tyr,ENST00000396516,;ZC3H7A,missense_variant,p.Asn460Tyr,ENST00000571198,;ZC3H7A,missense_variant,p.Asn550Tyr,ENST00000355758,;ZC3H7A,downstream_gene_variant,,ENST00000576009,;ZC3H7A,missense_variant,p.Asn2Tyr,ENST00000571405,;ZC3H7A,3_prime_UTR_variant,,ENST00000575041,;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000571676,;ZC3H7A,upstream_gene_variant,,ENST00000572938,;ZC3H7A,upstream_gene_variant,,ENST00000570862,;ZC3H7A,downstream_gene_variant,,ENST00000576247,;	1846	52	37	SUCCESS
PKD1	5310	.	GRCh37	16	2158624	2158624	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	47	0	ENST00000262304.4:c.6544C>G	p.Gln2182Glu	p.Q2182E	ENST00000262304	NM_001009944.2	2182	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS32369.1	6544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGGTAGG	NONE	.	.	PROSITE_profiles:PS51111,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Pfam_domain:PF02010,TIGRFAM_domain:TIGR00864	.	.	ENSP00000262304	.	15/46	.	.	.	.	.	.	.	.	.	15/46	PASS	ENST00000262304	Transcript	.	.	ENSG00000008710	9008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	.	.	PKD1_HUMAN	PKD1	HGNC	O75276_HUMAN	.	UPI00001B0454	SNV	PKD1,missense_variant,p.Gln2182Glu,ENST00000262304,;PKD1,missense_variant,p.Gln2182Glu,ENST00000423118,;PKD1,intron_variant,,ENST00000483024,;PKD1,intron_variant,,ENST00000488185,;PKD1,upstream_gene_variant,,ENST00000567946,;RP11-304L19.4,upstream_gene_variant,,ENST00000568795,;PKD1,downstream_gene_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000564865,;PKD1,upstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000473780,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,missense_variant,p.Gln411Glu,ENST00000487932,;PKD1,intron_variant,,ENST00000568591,;PKD1,intron_variant,,ENST00000565639,;PKD1,intron_variant,,ENST00000415938,;PKD1,intron_variant,,ENST00000483731,;PKD1,intron_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000486339,;PKD1,upstream_gene_variant,,ENST00000496574,;PKD1,downstream_gene_variant,,ENST00000469241,;PKD1,upstream_gene_variant,,ENST00000564890,;PKD1,upstream_gene_variant,,ENST00000562297,;PKD1,upstream_gene_variant,,ENST00000480227,;PKD1,upstream_gene_variant,,ENST00000471603,;	6753	47	42	SUCCESS
PKMYT1	9088	.	GRCh37	16	3024301	3024301	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1393471434	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	33	115	0	ENST00000262300.8:c.1097G>A	p.Gly366Asp	p.G366D	ENST00000262300	NM_001258450.1	366	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS10486.1	1097	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACCCCAG	NONE	.	.	hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF73,PIRSF_domain:PIRSF000567	.	.	ENSP00000262300	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000262300	Transcript	.	.	ENSG00000127564	29650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.28)	.	PMYT1_HUMAN	PKMYT1	HGNC	Q0IJ49_HUMAN,I3L4Y0_HUMAN,I3L4K3_HUMAN,I3L1H7_HUMAN,I3L136_HUMAN	.	UPI000004CF52	SNV	PKMYT1,missense_variant,p.Gly366Asp,ENST00000262300,;PKMYT1,missense_variant,p.Gly357Asp,ENST00000573944,;PKMYT1,missense_variant,p.Gly366Asp,ENST00000431515,;PKMYT1,missense_variant,p.Gly366Asp,ENST00000440027,;PKMYT1,missense_variant,p.Gly297Asp,ENST00000574730,;PKMYT1,missense_variant,p.Gly357Asp,ENST00000574385,;PKMYT1,downstream_gene_variant,,ENST00000572619,;PAQR4,downstream_gene_variant,,ENST00000576565,;PKMYT1,downstream_gene_variant,,ENST00000574415,;PAQR4,downstream_gene_variant,,ENST00000574988,;PKMYT1,upstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000576268,;PAQR4,downstream_gene_variant,,ENST00000572687,;PAQR4,downstream_gene_variant,,ENST00000293978,;PAQR4,downstream_gene_variant,,ENST00000318782,;PKMYT1,downstream_gene_variant,,ENST00000572059,;PKMYT1,downstream_gene_variant,,ENST00000575632,;PKMYT1,upstream_gene_variant,,ENST00000574333,;PKMYT1,upstream_gene_variant,,ENST00000571102,;PKMYT1,missense_variant,p.Gly357Asp,ENST00000382240,;PKMYT1,non_coding_transcript_exon_variant,,ENST00000575981,;PKMYT1,upstream_gene_variant,,ENST00000574680,;	1606	115	103	SUCCESS
PIGL	9487	.	GRCh37	17	16216896	16216896	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760922815	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	91	0	ENST00000225609.5:c.462C>A	p.His154Gln	p.H154Q	ENST00000225609	NM_004278.3	154	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS11176.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACAGCAA	NONE	.	.	hmmpanther:PTHR12993:SF11,hmmpanther:PTHR12993,Gene3D:3.40.50.10320,Pfam_domain:PF02585,Superfamily_domains:SSF102588	.	.	ENSP00000225609	.	4/7	.	.	.	.	.	.	.	.	rs760922815	4/7	PASS	ENST00000225609	Transcript	.	.	ENSG00000108474	8966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PIGL_HUMAN	PIGL	HGNC	.	.	UPI0000131AB3	SNV	PIGL,missense_variant,p.His154Gln,ENST00000395844,;PIGL,missense_variant,p.His154Gln,ENST00000225609,;PIGL,missense_variant,p.His154Gln,ENST00000498772,;PIGL,missense_variant,p.His154Gln,ENST00000477745,;PIGL,missense_variant,p.His154Gln,ENST00000584797,;PIGL,intron_variant,,ENST00000581006,;PIGL,non_coding_transcript_exon_variant,,ENST00000580201,;PIGL,missense_variant,p.His12Gln,ENST00000596678,;PIGL,3_prime_UTR_variant,,ENST00000585034,;PIGL,upstream_gene_variant,,ENST00000488375,;	479	91	68	SUCCESS
KRT10	3858	.	GRCh37	17	38976377	38976377	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	67	0	ENST00000269576.5:c.1079G>C	p.Ser360Thr	p.S360T	ENST00000269576	NM_000421.3	360	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS11377.1	1079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGCTGGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF137,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000269576	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000269576	Transcript	.	.	ENSG00000186395	6413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	tolerated(0.26)	.	K1C10_HUMAN	KRT10	HGNC	.	.	UPI000013D842	SNV	KRT10,missense_variant,p.Ser360Thr,ENST00000269576,;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000301665,;TMEM99,intron_variant,,ENST00000496847,;	1089	67	59	SUCCESS
SPATA20	64847	.	GRCh37	17	48625506	48625506	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	13	0	ENST00000356488.4:c.78-138C>G		p.*26*	ENST00000356488	NM_001258372.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11571.1	.	RADIA|MUTECT|MUSE	.	GTCTCCCCCAT	NONE	.	.	.	.	.	ENSP00000006658	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	MODIFIER	2/16	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,intron_variant,,ENST00000356488,;SPATA20,intron_variant,,ENST00000006658,;SPATA20,intron_variant,,ENST00000393244,;EPN3,downstream_gene_variant,,ENST00000268933,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000502911,;SPATA20,3_prime_UTR_variant,,ENST00000505456,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512416,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511605,;SPATA20,non_coding_transcript_exon_variant,,ENST00000505336,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512181,;SPATA20,intron_variant,,ENST00000510917,;SPATA20,intron_variant,,ENST00000508598,;SPATA20,intron_variant,,ENST00000505559,;SPATA20,intron_variant,,ENST00000504334,;SPATA20,intron_variant,,ENST00000515526,;SPATA20,intron_variant,,ENST00000505085,;SPATA20,intron_variant,,ENST00000511845,;SPATA20,intron_variant,,ENST00000503127,;SPATA20,upstream_gene_variant,,ENST00000504271,;SPATA20,upstream_gene_variant,,ENST00000513618,;SPATA20,upstream_gene_variant,,ENST00000511347,;SPATA20,upstream_gene_variant,,ENST00000504265,;SPATA20,upstream_gene_variant,,ENST00000505656,;SPATA20,upstream_gene_variant,,ENST00000508528,;SPATA20,upstream_gene_variant,,ENST00000515619,;	.	13	10	SUCCESS
MRC2	9902	.	GRCh37	17	60742016	60742016	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs748134416	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	43	0	ENST00000303375.5:c.226C>A	p.Arg76Ser	p.R76S	ENST00000303375	NM_006039.4	76	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11634.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCGCTGG	NONE	byFrequency	.	PROSITE_profiles:PS50231,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	.	.	ENSP00000307513	.	2/30	.	.	.	.	.	.	.	.	rs748134416,COSM3764618	2/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.166)	.	tolerated(0.08)	0,1	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,missense_variant,p.Arg76Ser,ENST00000303375,;Y_RNA,upstream_gene_variant,,ENST00000384652,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	628	43	49	SUCCESS
GALK1	2584	.	GRCh37	17	73761055	73761055	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs925336919	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	29	130	0	ENST00000225614.2:c.163A>G	p.Met55Val	p.M55V	ENST00000225614		55	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS11728.1	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATAGGCA	NONE	.	.	hmmpanther:PTHR10457:SF6,hmmpanther:PTHR10457,TIGRFAM_domain:TIGR00131,Pfam_domain:PF10509,Gene3D:3.30.230.10,PIRSF_domain:PIRSF000530,Superfamily_domains:SSF54211,Prints_domain:PR00959	.	.	ENSP00000465930	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000588479	Transcript	.	.	ENSG00000108479	4118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	tolerated(0.08)	.	GALK1_HUMAN	GALK1	HGNC	Q71UH7_HUMAN,C8CHJ6_HUMAN	.	UPI000012B056	SNV	GALK1,missense_variant,p.Met85Val,ENST00000437911,;GALK1,missense_variant,p.Met55Val,ENST00000588479,;GALK1,missense_variant,p.Met55Val,ENST00000225614,;GALK1,upstream_gene_variant,,ENST00000592997,;GALK1,missense_variant,p.Met55Val,ENST00000586244,;GALK1,splice_region_variant,,ENST00000589030,;GALK1,splice_region_variant,,ENST00000592494,;GALK1,upstream_gene_variant,,ENST00000587707,;	738	130	93	SUCCESS
QRICH2	84074	.	GRCh37	17	74271920	74271920	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	22	0	ENST00000262765.5:c.4964T>G	p.Ile1655Ser	p.I1655S	ENST00000262765	NM_032134.1	1655	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS32741.1	4964	MUTECT|MUSE	.	CCGAAATCTGG	NONE	.	.	hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78	.	.	ENSP00000262765	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000262765	Transcript	.	.	ENSG00000129646	25326	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	deleterious(0)	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,missense_variant,p.Asp429Glu,ENST00000447564,;QRICH2,missense_variant,p.Ile1655Ser,ENST00000262765,;QRICH2,missense_variant,p.Phe254Val,ENST00000532549,;UBALD2,downstream_gene_variant,,ENST00000327490,;QRICH2,3_prime_UTR_variant,,ENST00000524722,;	5144	22	16	SUCCESS
LGALS3BP	3959	.	GRCh37	17	76973243	76973243	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	52	0	ENST00000262776.3:c.31C>A	p.Leu11Met	p.L11M	ENST00000262776	NM_005567.3	11	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS11759.1	31	RADIA|MUSE	.	CAGCAGCCACA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19331:SF249,hmmpanther:PTHR19331	.	.	ENSP00000262776	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000262776	Transcript	.	.	ENSG00000108679	6564	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	LG3BP_HUMAN	LGALS3BP	HGNC	K7ESM3_HUMAN,K7ES75_HUMAN,K7EP36_HUMAN,K7EKQ5_HUMAN,B4DVE1_HUMAN	.	UPI000006E64A	SNV	LGALS3BP,missense_variant,p.Leu11Met,ENST00000589906,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000585407,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000591778,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000589775,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000262776,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000591274,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000589527,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000588205,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000588899,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000587311,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000588198,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000587251,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000587310,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000586720,;LGALS3BP,missense_variant,p.Leu11Met,ENST00000588990,;LGALS3BP,non_coding_transcript_exon_variant,,ENST00000586300,;LGALS3BP,upstream_gene_variant,,ENST00000588508,;LGALS3BP,upstream_gene_variant,,ENST00000592255,;LGALS3BP,upstream_gene_variant,,ENST00000588587,;	340	52	26	SUCCESS
HGS	9146	.	GRCh37	17	79661868	79661868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	99	0	ENST00000329138.4:c.960G>T	p.Glu320Asp	p.E320D	ENST00000329138	NM_004712.4	320	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS11784.1	960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGGACAT	NONE	.	.	hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF79,PIRSF_domain:PIRSF036956	.	.	ENSP00000331201	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000329138	Transcript	.	.	ENSG00000185359	4897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	tolerated(0.1)	.	HGS_HUMAN	HGS	HGNC	I3L2H4_HUMAN,I3L165_HUMAN	.	UPI000004493D	SNV	HGS,missense_variant,p.Glu40Asp,ENST00000571237,;HGS,missense_variant,p.Glu320Asp,ENST00000329138,;HGS,downstream_gene_variant,,ENST00000572392,;HGS,non_coding_transcript_exon_variant,,ENST00000575058,;HGS,upstream_gene_variant,,ENST00000573949,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,upstream_gene_variant,,ENST00000571885,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,downstream_gene_variant,,ENST00000576087,;HGS,downstream_gene_variant,,ENST00000576393,;HGS,upstream_gene_variant,,ENST00000571647,;HGS,upstream_gene_variant,,ENST00000570355,;	1095	99	60	SUCCESS
HGS	9146	.	GRCh37	17	79661869	79661869	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	99	0	ENST00000329138.4:c.961G>C	p.Asp321His	p.D321H	ENST00000329138	NM_004712.4	321	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS11784.1	961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGACATC	NONE	.	.	hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF79,PIRSF_domain:PIRSF036956	.	.	ENSP00000331201	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000329138	Transcript	.	.	ENSG00000185359	4897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	HGS_HUMAN	HGS	HGNC	I3L2H4_HUMAN,I3L165_HUMAN	.	UPI000004493D	SNV	HGS,missense_variant,p.Asp41His,ENST00000571237,;HGS,missense_variant,p.Asp321His,ENST00000329138,;HGS,downstream_gene_variant,,ENST00000572392,;HGS,non_coding_transcript_exon_variant,,ENST00000575058,;HGS,upstream_gene_variant,,ENST00000573949,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,upstream_gene_variant,,ENST00000571885,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,downstream_gene_variant,,ENST00000576087,;HGS,downstream_gene_variant,,ENST00000576393,;HGS,upstream_gene_variant,,ENST00000571647,;HGS,upstream_gene_variant,,ENST00000570355,;	1096	99	59	SUCCESS
ROCK1	6093	.	GRCh37	18	18586398	18586398	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs773437034	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	68	0	ENST00000399799.2:c.1799A>C	p.Asp600Ala	p.D600A	ENST00000399799	NM_005406.2	600	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS11870.2	1799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTCTGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568	.	.	ENSP00000382697	.	16/33	.	.	.	.	.	.	.	.	rs773437034	16/33	PASS	ENST00000399799	Transcript	.	.	ENSG00000067900	10251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious(0.04)	.	ROCK1_HUMAN	ROCK1	HGNC	.	.	UPI000006F0A4	SNV	ROCK1,missense_variant,p.Asp600Ala,ENST00000399799,;	2740	68	43	SUCCESS
FHOD3	80206	.	GRCh37	18	34174853	34174853	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs765568380	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	94	0	ENST00000359247.4:c.710C>A	p.Thr237Lys	p.T237K	ENST00000359247	NM_001281739.1	237	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS32816.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACACGAAAA	BUFFER|p.T237T|c.711G>A|3	.	.	PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,Superfamily_domains:SSF48371	.	.	ENSP00000257209	.	7/25	.	.	.	.	.	.	.	.	rs765568380	7/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	.	tolerated(0.36)	.	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,missense_variant,p.Thr237Lys,ENST00000590592,;FHOD3,missense_variant,p.Thr237Lys,ENST00000445677,;FHOD3,missense_variant,p.Thr237Lys,ENST00000257209,;FHOD3,missense_variant,p.Thr36Lys,ENST00000592930,;FHOD3,missense_variant,p.Thr237Lys,ENST00000359247,;FHOD3,5_prime_UTR_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	832	94	92	SUCCESS
DSEL	92126	.	GRCh37	18	65179142	65179142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	91	0	ENST00000310045.7:c.2734G>T	p.Asp912Tyr	p.D912Y	ENST00000310045	NM_032160.2	912	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS11995.1	2734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCATCTACAA	NONE	.	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Pfam_domain:PF00685	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,missense_variant,p.Asp912Tyr,ENST00000310045,;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	4208	91	71	SUCCESS
RASAL3	64926	.	GRCh37	19	15569403	15569403	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	36	0	ENST00000343625.7:c.726C>A	p.Ala242=	p.A242=	ENST00000343625	NM_022904.1	242	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46006.1	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCGGCACC	NONE	.	.	hmmpanther:PTHR10194:SF82,hmmpanther:PTHR10194,Superfamily_domains:SSF50729	.	.	ENSP00000341905	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000343625	Transcript	.	.	ENSG00000105122	26129	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASL3_HUMAN	RASAL3	HGNC	.	.	UPI0000197831	SNV	RASAL3,synonymous_variant,p.%3D,ENST00000343625,;RASAL3,upstream_gene_variant,,ENST00000609274,;RASAL3,upstream_gene_variant,,ENST00000599694,;RASAL3,upstream_gene_variant,,ENST00000608577,;RASAL3,upstream_gene_variant,,ENST00000595098,;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;RASAL3,upstream_gene_variant,,ENST00000597025,;	812	36	24	SUCCESS
MAG	4099	.	GRCh37	19	35791107	35791107	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	27	0	ENST00000392213.3:c.770T>C	p.Val257Ala	p.V257A	ENST00000392213	NM_002361.3	257	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12455.1	770	RADIA|MUSE	.	CCACGTGAGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000376048	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000392213	Transcript	.	.	ENSG00000105695	6783	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.44)	.	deleterious(0.03)	.	MAG_HUMAN	MAG	HGNC	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN	.	UPI000012EB2F	SNV	MAG,missense_variant,p.Val257Ala,ENST00000392213,;MAG,missense_variant,p.Val232Ala,ENST00000537831,;MAG,missense_variant,p.Val257Ala,ENST00000361922,;MAG,downstream_gene_variant,,ENST00000600291,;MAG,downstream_gene_variant,,ENST00000595791,;MAG,downstream_gene_variant,,ENST00000597035,;	929	27	36	SUCCESS
CD22	933	.	GRCh37	19	35832797	35832797	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	79	0	ENST00000085219.5:c.1964G>C	p.Gly655Ala	p.G655A	ENST00000085219	NM_001771.3	655	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS12457.1	1964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGGTGCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000085219	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000085219	Transcript	.	.	ENSG00000012124	1643	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD22_HUMAN	CD22	HGNC	Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN	.	UPI000012733D	SNV	CD22,missense_variant,p.Gly655Ala,ENST00000544992,;CD22,missense_variant,p.Gly535Ala,ENST00000270311,;CD22,missense_variant,p.Gly655Ala,ENST00000085219,;CD22,missense_variant,p.Gly478Ala,ENST00000341773,;CD22,missense_variant,p.Gly478Ala,ENST00000594250,;CD22,missense_variant,p.Gly567Ala,ENST00000536635,;CD22,missense_variant,p.Gly483Ala,ENST00000419549,;CD22,downstream_gene_variant,,ENST00000600424,;CD22,downstream_gene_variant,,ENST00000599811,;MIR5196,upstream_gene_variant,,ENST00000578146,;CD22,downstream_gene_variant,,ENST00000597433,;CD22,downstream_gene_variant,,ENST00000601329,;CD22,downstream_gene_variant,,ENST00000598815,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,3_prime_UTR_variant,,ENST00000594125,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,downstream_gene_variant,,ENST00000600655,;CD22,downstream_gene_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000594349,;CD22,upstream_gene_variant,,ENST00000593704,;	2030	79	61	SUCCESS
PVRL2	0	.	GRCh37	19	45381766	45381766	+	intron_variant	Intron	SNP	G	G	A	rs780977718	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	69	1	ENST00000252483.5:c.1043-3702G>A		p.*348*	ENST00000252483	NM_001042724.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42576.1	.	MUTECT|MUSE	.	GAGGAGGAAGA	NONE	.	.	.	.	.	ENSP00000252483	.	.	.	.	.	.	.	.	.	.	rs780977718	.	PASS	ENST00000252483	Transcript	.	.	ENSG00000130202	9707	.	.	MODIFIER	5/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PVRL2_HUMAN	PVRL2	HGNC	Q7Z458_HUMAN,Q7Z457_HUMAN,Q7Z456_HUMAN	.	UPI000004A2BF	SNV	PVRL2,synonymous_variant,p.%3D,ENST00000252485,;PVRL2,3_prime_UTR_variant,,ENST00000585601,;PVRL2,intron_variant,,ENST00000252483,;PVRL2,intron_variant,,ENST00000591581,;PVRL2,upstream_gene_variant,,ENST00000592018,;CTB-129P6.4,downstream_gene_variant,,ENST00000585408,;PVRL2,downstream_gene_variant,,ENST00000587386,;	.	70	53	SUCCESS
MED25	81857	.	GRCh37	19	50321584	50321584	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	34	0	ENST00000312865.6:c.-15G>A		p.*5*	ENST00000312865	NM_030973.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33075.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGGGTACC	NONE	.	.	.	.	.	ENSP00000326767	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000312865	Transcript	1	.	ENSG00000104973	28845	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED25_HUMAN	MED25	HGNC	.	.	UPI00002029A3	SNV	MED25,5_prime_UTR_variant,,ENST00000312865,;MED25,upstream_gene_variant,,ENST00000595185,;MED25,upstream_gene_variant,,ENST00000538643,;FUZ,upstream_gene_variant,,ENST00000529302,;MED25,non_coding_transcript_exon_variant,,ENST00000593595,;MED25,non_coding_transcript_exon_variant,,ENST00000593636,;	39	34	41	SUCCESS
KCNC3	3748	.	GRCh37	19	50832056	50832056	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	11	0	ENST00000477616.1:c.284del	p.Gly95AlafsTer23	p.G95Afs*23	ENST00000477616	NM_004977.2	95	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS12793.1	284	INDELOCATOR|VARSCANI	.	ACGCCGCCCACG	NONE	.	.	hmmpanther:PTHR11537:SF123,hmmpanther:PTHR11537,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000434241	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477616	Transcript	1	.	ENSG00000131398	6235	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNC3_HUMAN	KCNC3	HGNC	.	.	UPI000013EA5D	deletion	KCNC3,frameshift_variant,p.Gly95AlafsTer23,ENST00000376959,;KCNC3,frameshift_variant,p.Gly95AlafsTer23,ENST00000477616,;KCNC3,intron_variant,,ENST00000391818,;KCNC3,intron_variant,,ENST00000474951,;NR1H2,upstream_gene_variant,,ENST00000600355,;NR1H2,upstream_gene_variant,,ENST00000542413,;NR1H2,upstream_gene_variant,,ENST00000600978,;NAPSB,downstream_gene_variant,,ENST00000531692,;NR1H2,upstream_gene_variant,,ENST00000593532,;	579	11	16	SUCCESS
ZNF415	55786	.	GRCh37	19	53612297	53612297	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	44	0	ENST00000500065.4:c.1001G>C	p.Gly334Ala	p.G334A	ENST00000500065	NM_001136038.2	334	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS54313.1	1001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCCACAC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,missense_variant,p.Gly321Ala,ENST00000440291,;ZNF415,missense_variant,p.Gly382Ala,ENST00000455735,;ZNF415,missense_variant,p.Gly382Ala,ENST00000448501,;ZNF415,missense_variant,p.Gly104Ala,ENST00000601493,;ZNF415,missense_variant,p.Gly334Ala,ENST00000500065,;ZNF415,missense_variant,p.Gly334Ala,ENST00000243643,;ZNF415,missense_variant,p.Gly346Ala,ENST00000421033,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	1335	44	34	SUCCESS
MUC16	94025	.	GRCh37	19	9084547	9084547	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	5	169	0	ENST00000397910.4:c.7268A>C	p.Asn2423Thr	p.N2423T	ENST00000397910	NM_024690.2	2423	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS54212.1	7268	MUTECT|MUSE	.	CTGTATTTGTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Asn2423Thr,ENST00000397910,;	7472	169	84	SUCCESS
CELSR2	1952	.	GRCh37	1	109812678	109812678	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs78104849	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	32	113	0	ENST00000271332.3:c.7231A>G	p.Ile2411Val	p.I2411V	ENST00000271332	NM_001408.2	2411	Atc/Gtc	0	.	G:0.0008	.	G:0	.	G	I/V	protein_coding	YES	CCDS796.1	7231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCATCCGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50261,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Pfam_domain:PF00002	G:0	.	ENSP00000271332	G:0	23/34	.	.	.	.	.	.	.	.	rs78104849	23/34	PASS	ENST00000271332	Transcript	.	G:0.0002	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.679)	G:0	deleterious(0.01)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Ile2411Val,ENST00000271332,;CELSR2,non_coding_transcript_exon_variant,,ENST00000489018,;CELSR2,upstream_gene_variant,,ENST00000498157,;CELSR2,downstream_gene_variant,,ENST00000459940,;	7292	113	88	SUCCESS
TNFRSF4	7293	.	GRCh37	1	1148033	1148033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	30	0	ENST00000379236.3:c.422G>T	p.Cys141Phe	p.C141F	ENST00000379236	NM_003327.3	141	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS11.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGCAGGCC	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF12,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586	.	.	ENSP00000368538	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000379236	Transcript	.	.	ENSG00000186827	11918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.03)	.	TNR4_HUMAN	TNFRSF4	HGNC	.	.	UPI00001370E5	SNV	TNFRSF4,missense_variant,p.Cys141Phe,ENST00000379236,;SDF4,downstream_gene_variant,,ENST00000263741,;SDF4,downstream_gene_variant,,ENST00000360001,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;SDF4,downstream_gene_variant,,ENST00000465727,;SDF4,downstream_gene_variant,,ENST00000494748,;SDF4,downstream_gene_variant,,ENST00000478938,;	427	30	42	SUCCESS
PTCHD2	0	.	GRCh37	1	11591710	11591710	+	synonymous_variant	Silent	SNP	C	C	T	rs749918646	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	99	0	ENST00000294484.6:c.3318C>T	p.His1106=	p.H1106=	ENST00000294484	NM_020780.1	1106	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS41247.1	3318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCACGGGGC	NONE	byFrequency	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	17/21	.	.	.	.	.	.	.	.	rs749918646	17/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,synonymous_variant,p.%3D,ENST00000389575,;PTCHD2,synonymous_variant,p.%3D,ENST00000294484,;PTCHD2,upstream_gene_variant,,ENST00000304391,;	3456	99	90	SUCCESS
CHD1L	9557	.	GRCh37	1	146747921	146747921	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	69	0	ENST00000369258.4:c.1539G>A		p.X513_splice	ENST00000369258	NM_001256336.1	513	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS927.1	1539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGTATG	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF558,PROSITE_profiles:PS51194	.	.	ENSP00000358262	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000369258	Transcript	.	.	ENSG00000131778	1916	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD1L_HUMAN	CHD1L	HGNC	B5MDZ7_HUMAN	.	UPI000020566F	SNV	CHD1L,synonymous_variant,p.%3D,ENST00000369259,;CHD1L,synonymous_variant,p.%3D,ENST00000369258,;CHD1L,synonymous_variant,p.%3D,ENST00000431239,;CHD1L,synonymous_variant,p.%3D,ENST00000361293,;CHD1L,splice_region_variant,,ENST00000467213,;CHD1L,non_coding_transcript_exon_variant,,ENST00000488864,;CHD1L,downstream_gene_variant,,ENST00000469625,;CHD1L,downstream_gene_variant,,ENST00000485113,;	1559	69	62	SUCCESS
FLG2	388698	.	GRCh37	1	152323836	152323836	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	148	30	121	0	ENST00000388718.5:c.6426G>T	p.Gly2142=	p.G2142=	ENST00000388718	NM_001014342.2	2142	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30861.1	6426	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCCCGTG	NONE	.	.	.	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	6499	121	178	SUCCESS
KIAA0907	0	.	GRCh37	1	155891367	155891367	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	190	169	0	ENST00000368321.3:c.1065T>G	p.Tyr355Ter	p.Y355*	ENST00000368321	NM_014949.2	355	taT/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS30885.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGATAATA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0	.	.	ENSP00000357304	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000368321	Transcript	.	.	ENSG00000132680	29145	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0907_HUMAN	KIAA0907	HGNC	.	.	UPI00001A36E0	SNV	KIAA0907,stop_gained,p.Tyr355Ter,ENST00000368320,;KIAA0907,stop_gained,p.Tyr355Ter,ENST00000368321,;KIAA0907,intron_variant,,ENST00000368319,;SCARNA4,downstream_gene_variant,,ENST00000516999,;SNORA42,upstream_gene_variant,,ENST00000384744,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,intron_variant,,ENST00000482337,;KIAA0907,intron_variant,,ENST00000483237,;KIAA0907,downstream_gene_variant,,ENST00000466713,;KIAA0907,upstream_gene_variant,,ENST00000465953,;KIAA0907,upstream_gene_variant,,ENST00000466520,;	1089	169	225	SUCCESS
C1orf61	0	.	GRCh37	1	156376731	156376731	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	13	0	ENST00000368243.1:c.423+141C>T		p.*141*	ENST00000368243	NM_006365.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1142.1	.	MUTECT|MUSE	.	CAAAAGGTTTG	NONE	.	.	.	.	.	ENSP00000357226	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368243	Transcript	.	.	ENSG00000125462	30780	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CROC4_HUMAN	C1orf61	HGNC	.	.	UPI000006E362	SNV	C1orf61,intron_variant,,ENST00000357975,;C1orf61,intron_variant,,ENST00000368243,;C1orf61,intron_variant,,ENST00000310027,;C1orf61,intron_variant,,ENST00000400991,;C1orf61,intron_variant,,ENST00000368242,;C1orf61,non_coding_transcript_exon_variant,,ENST00000488498,;C1orf61,intron_variant,,ENST00000492750,;C1orf61,intron_variant,,ENST00000497824,;C1orf61,intron_variant,,ENST00000462458,;C1orf61,intron_variant,,ENST00000486517,;C1orf61,intron_variant,,ENST00000464238,;C1orf61,intron_variant,,ENST00000465270,;C1orf61,intron_variant,,ENST00000471156,;C1orf61,intron_variant,,ENST00000497822,;C1orf61,intron_variant,,ENST00000498346,;C1orf61,intron_variant,,ENST00000465570,;C1orf61,downstream_gene_variant,,ENST00000489877,;C1orf61,downstream_gene_variant,,ENST00000484428,;C1orf61,downstream_gene_variant,,ENST00000482932,;C1orf61,downstream_gene_variant,,ENST00000476966,;C1orf61,downstream_gene_variant,,ENST00000489918,;C1orf61,intron_variant,,ENST00000608007,;	.	13	16	SUCCESS
ETV3L	440695	.	GRCh37	1	157069339	157069339	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	38	0	ENST00000454449.2:c.-24C>A		p.*8*	ENST00000454449	NM_001004341.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30893.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTGTGTCT	NONE	.	.	.	.	.	ENSP00000430271	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000454449	Transcript	.	.	ENSG00000253831	33834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETV3L_HUMAN	ETV3L	HGNC	.	.	UPI000035E7AE	SNV	ETV3L,5_prime_UTR_variant,,ENST00000454449,;	262	38	75	SUCCESS
FMO2	2327	.	GRCh37	1	171178027	171178027	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	23	81	0	ENST00000209929.7:c.1351T>A	p.Ser451Thr	p.S451T	ENST00000209929		451	Tct/Act	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS1293.1	1351	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTCTCTC	NONE	.	.	hmmpanther:PTHR23023:SF84,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,Superfamily_domains:SSF51905,Prints_domain:PR01122	.	.	ENSP00000405905	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000441535	Transcript	.	.	ENSG00000094963	3770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	tolerated(0.41)	.	FMO2_HUMAN	FMO2	HGNC	B4E2Q9_HUMAN	.	UPI000013C672	SNV	FMO2,missense_variant,p.Ser451Thr,ENST00000441535,;FMO2,missense_variant,p.Ser451Thr,ENST00000209929,;RP1-127D3.4,intron_variant,,ENST00000445909,;RP1-127D3.4,intron_variant,,ENST00000445290,;RP1-127D3.4,intron_variant,,ENST00000422841,;FMO2,non_coding_transcript_exon_variant,,ENST00000488431,;FMO2,non_coding_transcript_exon_variant,,ENST00000529935,;FMO2,downstream_gene_variant,,ENST00000489354,;	1468	81	112	SUCCESS
LINC00862	554279	.	GRCh37	1	200312363	200312363	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	51	76	0	ENST00000367355.1:n.726T>C		p.*242*	ENST00000367355				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTATAATC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367355	Transcript	.	.	ENSG00000203721	21901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC00862	HGNC	.	.	.	SNV	LINC00862,non_coding_transcript_exon_variant,,ENST00000367355,;LINC00862,intron_variant,,ENST00000367356,;	726	76	122	SUCCESS
EPHA8	2046	.	GRCh37	1	22902830	22902830	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758018689	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	70	180	0	ENST00000166244.3:c.280G>A	p.Ala94Thr	p.A94T	ENST00000166244	NM_020526.3	94	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS225.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCGCCCGG	NONE	.	.	Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS51550	.	.	ENSP00000166244	.	3/17	.	.	.	.	.	.	.	.	rs758018689,COSM2154345,COSM2154346	3/17	PASS	ENST00000166244	Transcript	.	.	ENSG00000070886	3391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	EPHA8_HUMAN	EPHA8	HGNC	.	.	UPI000012A07B	SNV	EPHA8,missense_variant,p.Ala94Thr,ENST00000374644,;EPHA8,missense_variant,p.Ala94Thr,ENST00000538803,;EPHA8,missense_variant,p.Ala94Thr,ENST00000166244,;	352	180	168	SUCCESS
ZNF695	57116	.	GRCh37	1	247150556	247150556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	32	0	ENST00000339986.7:c.1261T>C	p.Ser421Pro	p.S421P	ENST00000339986	NM_020394.4	421	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS44344.1	1261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGAAAACC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,PROSITE_profiles:PS50157	.	.	ENSP00000341236	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339986	Transcript	.	.	ENSG00000197472	30954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ZN695_HUMAN	ZNF695	HGNC	.	.	UPI0000F734A8	SNV	ZNF695,missense_variant,p.Ser421Pro,ENST00000339986,;ZNF695,intron_variant,,ENST00000487338,;ZNF695,intron_variant,,ENST00000498046,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000479214,;ZNF670,intron_variant,,ENST00000474541,;ZNF695,intron_variant,,ENST00000491337,;ZNF670,intron_variant,,ENST00000465049,;	1409	32	56	SUCCESS
OR2L13	284521	.	GRCh37	1	248263223	248263223	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	62	105	0	ENST00000358120.2:c.546C>T	p.Ala182=	p.A182=	ENST00000358120		182	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1637.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCATGTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF102,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000355434	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366478	Transcript	.	.	ENSG00000196071	19578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2LD_HUMAN	OR2L13	HGNC	.	.	UPI0000043517	SNV	OR2L13,synonymous_variant,p.%3D,ENST00000358120,;OR2L13,synonymous_variant,p.%3D,ENST00000366478,;	883	105	140	SUCCESS
OR2M3	127062	.	GRCh37	1	248366590	248366590	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776540057	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	43	179	0	ENST00000456743.1:c.221T>C	p.Ile74Thr	p.I74T	ENST00000456743	NM_001004689.1	74	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS31107.1	221	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCATCTGCA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000389625	.	1/1	.	.	.	.	.	.	.	.	rs776540057	1/1	PASS	ENST00000456743	Transcript	.	.	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	tolerated(0.11)	.	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.Ile74Thr,ENST00000456743,;	259	179	240	SUCCESS
CD164L2	388611	.	GRCh37	1	27709145	27709145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	70	0	ENST00000374027.3:c.101G>A	p.Arg34Gln	p.R34Q	ENST00000374027	NM_207397.2	34	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS302.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTCGAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11337:SF11,hmmpanther:PTHR11337,Pfam_domain:PF05283	.	.	ENSP00000363139	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000374027	Transcript	.	.	ENSG00000174950	32043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.1)	.	C16L2_HUMAN	CD164L2	HGNC	.	.	UPI000004BA78	SNV	CD164L2,missense_variant,p.Arg34Gln,ENST00000374027,;CD164L2,missense_variant,p.Arg34Gln,ENST00000374025,;CD164L2,missense_variant,p.Arg34Gln,ENST00000374030,;	165	70	55	SUCCESS
SESN2	83667	.	GRCh37	1	28595721	28595721	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	47	0	ENST00000253063.3:c.118G>A	p.Gly40Ser	p.G40S	ENST00000253063	NM_031459.4	40	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS321.1	118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGGCCCT	NONE	.	.	hmmpanther:PTHR12474:SF2,hmmpanther:PTHR12474	.	.	ENSP00000253063	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000253063	Transcript	.	.	ENSG00000130766	20746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.11)	.	SESN2_HUMAN	SESN2	HGNC	.	.	UPI0000001C01	SNV	SESN2,missense_variant,p.Gly40Ser,ENST00000253063,;	439	47	28	SUCCESS
CC2D1B	200014	.	GRCh37	1	52830265	52830265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	40	0	ENST00000371586.2:c.28G>T	p.Gly10Cys	p.G10C	ENST00000371586	NM_032449.2	10	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS30714.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCCCTTCC	NONE	.	.	hmmpanther:PTHR13076:SF5,hmmpanther:PTHR13076	.	.	ENSP00000360642	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000371586	Transcript	.	.	ENSG00000154222	29386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	C2D1B_HUMAN	CC2D1B	HGNC	.	.	UPI00001609B7	SNV	CC2D1B,missense_variant,p.Gly10Cys,ENST00000284376,;CC2D1B,missense_variant,p.Gly10Cys,ENST00000371586,;CC2D1B,5_prime_UTR_variant,,ENST00000438831,;CC2D1B,upstream_gene_variant,,ENST00000450942,;CC2D1B,upstream_gene_variant,,ENST00000438021,;CC2D1B,upstream_gene_variant,,ENST00000460261,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000491136,;PLA2G12AP1,upstream_gene_variant,,ENST00000497678,;	167	40	21	SUCCESS
MIR186	406962	.	GRCh37	1	71533380	71533380	+	mature_miRNA_variant	RNA	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	88	250	0	ENST00000384988.1:n.20A>T		p.*7*	ENST00000384988				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS659.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATTCTTTG	NONE	.	.	.	.	.	ENSP00000359958	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370920	Transcript	.	.	ENSG00000132485	13058	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZRAB2_HUMAN	ZRANB2	HGNC	.	.	UPI000013CE63	SNV	ZRANB2,intron_variant,,ENST00000370920,;ZRANB2,intron_variant,,ENST00000254821,;MIR186,mature_miRNA_variant,,ENST00000384988,;ZRANB2-AS1,downstream_gene_variant,,ENST00000450461,;ZRANB2-AS1,downstream_gene_variant,,ENST00000426999,;ZRANB2,intron_variant,,ENST00000487510,;ZRANB2,upstream_gene_variant,,ENST00000477096,;ZRANB2,upstream_gene_variant,,ENST00000479947,;ZRANB2,upstream_gene_variant,,ENST00000473260,;	.	250	232	SUCCESS
PRKACB	5567	.	GRCh37	1	84662426	84662427	+	splice_donor_variant	Splice_Site	INS	-	-	TA	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	116	47	150	0	ENST00000370689.2:c.546+3_546+4dup		p.X182_splice	ENST00000370689	NM_002731.2	182		0	.	.	.	.	.	TA	.	protein_coding	YES	CCDS693.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCAGGTATGA	NONE	.	.	.	.	.	ENSP00000359719	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370685	Transcript	.	.	ENSG00000142875	9381	3	.	HIGH	6/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KAPCB_HUMAN	PRKACB	HGNC	.	.	UPI00001A9CCB	insertion	PRKACB,splice_donor_variant,,ENST00000417530,;PRKACB,splice_donor_variant,,ENST00000394838,;PRKACB,splice_donor_variant,,ENST00000370685,;PRKACB,splice_donor_variant,,ENST00000370688,;PRKACB,splice_donor_variant,,ENST00000370682,;PRKACB,splice_donor_variant,,ENST00000413538,;PRKACB,splice_donor_variant,,ENST00000370684,;PRKACB,splice_donor_variant,,ENST00000394839,;PRKACB,splice_donor_variant,,ENST00000370689,;PRKACB,splice_donor_variant,,ENST00000370680,;PRKACB,splice_donor_variant,,ENST00000432111,;PRKACB,splice_donor_variant,,ENST00000450730,;PRKACB,downstream_gene_variant,,ENST00000446538,;PRKACB,downstream_gene_variant,,ENST00000436133,;PRKACB,downstream_gene_variant,,ENST00000470673,;	.	150	163	SUCCESS
CBFA2T2	9139	.	GRCh37	20	32199083	32199084	+	inframe_insertion	In_Frame_Ins	INS	-	-	CAATGACAT	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	98	0	ENST00000346541.3:c.391_399dup	p.Asn131_Ile133dup	p.N131_I133dup	ENST00000346541	NM_005093.3	131	ggc/ggCAATGACATc	0	.	.	.	.	.	CAATGACAT	G/GNDI	protein_coding	YES	CCDS13221.1	389-390	INDELOCATOR|VARSCANI	.	GTTTGGCAATG	NONE	.	.	Superfamily_domains:SSF158553,SMART_domains:SM00549,Pfam_domain:PF07531,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13,PROSITE_profiles:PS51119	.	.	ENSP00000262653	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000346541	Transcript	.	.	ENSG00000078699	1536	10	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTG8R_HUMAN	CBFA2T2	HGNC	Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN	.	UPI0000073E07	insertion	CBFA2T2,inframe_insertion,p.Asn102_Ile104dup,ENST00000397798,;CBFA2T2,inframe_insertion,p.Asn131_Ile133dup,ENST00000375279,;CBFA2T2,inframe_insertion,p.Asn131_Ile133dup,ENST00000346541,;CBFA2T2,inframe_insertion,p.Asn122_Ile124dup,ENST00000342704,;CBFA2T2,inframe_insertion,p.Asn102_Ile104dup,ENST00000492345,;CBFA2T2,inframe_insertion,p.Asn102_Ile104dup,ENST00000344201,;CBFA2T2,inframe_insertion,p.Asn102_Ile104dup,ENST00000397800,;CBFA2T2,inframe_insertion,p.Asn141_Ile143dup,ENST00000359606,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000471007,;	926-927	98	73	SUCCESS
ATRN	8455	.	GRCh37	20	3541522	3541522	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	48	178	0	ENST00000262919.5:c.1417T>G	p.Tyr473Asp	p.Y473D	ENST00000262919	NM_139321.2	473	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS13053.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATATATA	NONE	.	.	hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574,Gene3D:1zgkA00,Superfamily_domains:0047741	.	.	ENSP00000262919	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000262919	Transcript	.	.	ENSG00000088812	885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	ATRN_HUMAN	ATRN	HGNC	.	.	UPI000012661C	SNV	ATRN,missense_variant,p.Tyr473Asp,ENST00000446916,;ATRN,missense_variant,p.Tyr473Asp,ENST00000262919,;	1485	178	126	SUCCESS
ZNF217	7764	.	GRCh37	20	52198188	52198188	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	74	0	ENST00000302342.3:c.1178A>G	p.His393Arg	p.H393R	ENST00000302342	NM_006526.2	393	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS13443.1	1178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTGCAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000360526	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000371471	Transcript	.	.	ENSG00000171940	13009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN217_HUMAN	ZNF217	HGNC	A2A326_HUMAN	.	UPI000013C323	SNV	ZNF217,missense_variant,p.His393Arg,ENST00000302342,;ZNF217,missense_variant,p.His393Arg,ENST00000371471,;ZNF217,downstream_gene_variant,,ENST00000431687,;ZNF217,downstream_gene_variant,,ENST00000540425,;	1604	74	58	SUCCESS
ZNF831	128611	.	GRCh37	20	57766654	57766654	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	47	0	ENST00000371030.2:c.580C>T	p.Gln194Ter	p.Q194*	ENST00000371030	NM_178457.2	194	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS42894.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCAGACG	BUFFER|p.T195T|c.585G>A|3	.	.	SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52,PROSITE_profiles:PS50157	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,stop_gained,p.Gln194Ter,ENST00000371030,;	580	47	25	SUCCESS
ARFRP1	10139	.	GRCh37	20	62338416	62338416	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs774605679	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	56	0	ENST00000359715.5:c.28A>G	p.Lys10Glu	p.K10E	ENST00000359715		10	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS13533.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTTGTACA	NONE	.	.	hmmpanther:PTHR11711:SF19,hmmpanther:PTHR11711,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00178,SMART_domains:SM00177	.	.	ENSP00000352746	.	1/7	.	.	.	.	.	.	.	.	rs774605679	1/7	PASS	ENST00000359715	Transcript	.	.	ENSG00000101246	662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.329)	.	tolerated(0.23)	.	ARFRP_HUMAN	ARFRP1	HGNC	.	.	UPI000012606D	SNV	ARFRP1,missense_variant,p.Lys10Glu,ENST00000609142,;ARFRP1,missense_variant,p.Lys10Glu,ENST00000324228,;ARFRP1,missense_variant,p.Lys10Glu,ENST00000440854,;ARFRP1,missense_variant,p.Lys10Glu,ENST00000359715,;ARFRP1,intron_variant,,ENST00000607873,;ZGPAT,upstream_gene_variant,,ENST00000448100,;ZGPAT,upstream_gene_variant,,ENST00000328969,;ZGPAT,upstream_gene_variant,,ENST00000357119,;ZGPAT,upstream_gene_variant,,ENST00000355969,;ZGPAT,upstream_gene_variant,,ENST00000431125,;ZGPAT,upstream_gene_variant,,ENST00000369967,;ARFRP1,upstream_gene_variant,,ENST00000424545,;ZGPAT,upstream_gene_variant,,ENST00000478385,;ZGPAT,upstream_gene_variant,,ENST00000472711,;ZGPAT,upstream_gene_variant,,ENST00000468235,;ARFRP1,missense_variant,p.Lys10Glu,ENST00000610136,;ARFRP1,upstream_gene_variant,,ENST00000609243,;ZGPAT,upstream_gene_variant,,ENST00000477340,;RP4-583P15.15,upstream_gene_variant,,ENST00000490623,;ARFRP1,upstream_gene_variant,,ENST00000609537,;	595	56	43	SUCCESS
BAGE2	85319	.	GRCh37	21	11038932	11038932	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	317	30	483	0	ENST00000470054.1:n.1272A>T		p.*424*	ENST00000470054				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	CTTGCTTATGT	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1272	483	347	SUCCESS
IGLV3-19	28797	.	GRCh37	22	23063130	23063130	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	64	0	ENST00000390309.2:c.-18T>G		p.*6*	ENST00000390309				0	.	.	.	.	.	G	.	IG_V_gene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGTTCTGG	NONE	.	.	.	.	.	ENSP00000374844	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000390309	Transcript	.	.	ENSG00000211663	5903	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGLV3-19	HGNC	.	.	UPI000173A2CD	SNV	IGLV3-19,5_prime_UTR_variant,,ENST00000390309,;	23	64	64	SUCCESS
SUSD2	56241	.	GRCh37	22	24583365	24583365	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141759016	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	49	0	ENST00000358321.3:c.1838G>T	p.Arg613Leu	p.R613L	ENST00000358321	NM_019601.3	613	cGc/cTc	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS13824.1	1838	MUTECT|MUSE	.	CGGGCGCGTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS51233	.	A:0.0005	ENSP00000351075	.	11/15	.	.	.	.	.	.	.	.	rs141759016	11/15	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	tolerated(0.27)	.	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,missense_variant,p.Arg613Leu,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	2099	49	42	SUCCESS
CPT1B	1375	.	GRCh37	22	51014481	51014481	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs148070553	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	53	0	ENST00000312108.7:c.760A>G	p.Ser254Gly	p.S254G	ENST00000312108	NM_152246.2	254	Agc/Ggc	0	C:0	.	.	.	.	C	S/G	protein_coding	YES	CCDS14098.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCTGTTCA	NONE	byCluster	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF58,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	C:0.0001	ENSP00000353945	.	7/19	.	.	.	.	.	.	.	.	rs148070553	7/19	PASS	ENST00000360719	Transcript	.	.	ENSG00000205560	2329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0)	.	CPT1B_HUMAN	CPT1B	HGNC	C9J7C3_HUMAN	.	UPI0000128314	SNV	CPT1B,missense_variant,p.Ser254Gly,ENST00000312108,;CPT1B,missense_variant,p.Ser254Gly,ENST00000360719,;CPT1B,missense_variant,p.Ser254Gly,ENST00000395650,;CPT1B,missense_variant,p.Ser51Gly,ENST00000434492,;CPT1B,missense_variant,p.Ser220Gly,ENST00000457250,;CPT1B,missense_variant,p.Ser254Gly,ENST00000405237,;CPT1B,missense_variant,p.Ser254Gly,ENST00000440709,;CPT1B,downstream_gene_variant,,ENST00000417176,;CHKB,downstream_gene_variant,,ENST00000406938,;CHKB,downstream_gene_variant,,ENST00000464225,;CHKB-CPT1B,downstream_gene_variant,,ENST00000452668,;CHKB,downstream_gene_variant,,ENST00000463053,;CHKB,downstream_gene_variant,,ENST00000471515,;CPT1B,missense_variant,p.Ser5Gly,ENST00000423069,;CHKB-CPT1B,3_prime_UTR_variant,,ENST00000453634,;CHKB-CPT1B,non_coding_transcript_exon_variant,,ENST00000492556,;CPT1B,downstream_gene_variant,,ENST00000476790,;CPT1B,upstream_gene_variant,,ENST00000479886,;CPT1B,downstream_gene_variant,,ENST00000460853,;CHKB,downstream_gene_variant,,ENST00000476289,;CHKB,downstream_gene_variant,,ENST00000492582,;CHKB,downstream_gene_variant,,ENST00000481673,;CHKB,downstream_gene_variant,,ENST00000484266,;CPT1B,upstream_gene_variant,,ENST00000497224,;CHKB,downstream_gene_variant,,ENST00000468532,;CPT1B,downstream_gene_variant,,ENST00000461117,;CHKB,downstream_gene_variant,,ENST00000479003,;CHKB,downstream_gene_variant,,ENST00000489453,;CPT1B,upstream_gene_variant,,ENST00000475238,;	898	53	39	SUCCESS
ACR	49	.	GRCh37	22	51183204	51183204	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	51	148	0	ENST00000216139.5:c.835T>C	p.Trp279Arg	p.W279R	ENST00000216139	NM_001097.2	279	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS14101.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGGCCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24252,Pfam_domain:PF00089,PIRSF_domain:PIRSF001141,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000216139	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000216139	Transcript	.	.	ENSG00000100312	126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	ACRO_HUMAN	ACR	HGNC	.	.	UPI00001AE5ED	SNV	ACR,missense_variant,p.Trp279Arg,ENST00000216139,;ACR,downstream_gene_variant,,ENST00000529621,;AC002056.5,upstream_gene_variant,,ENST00000532913,;ACR,non_coding_transcript_exon_variant,,ENST00000527761,;ACR,downstream_gene_variant,,ENST00000533930,;	875	148	131	SUCCESS
REV1	51455	.	GRCh37	2	100046405	100046405	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	60	233	0	ENST00000258428.3:c.1444A>G	p.Ile482Val	p.I482V	ENST00000258428	NM_001037872.1	482	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2045.1	1444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTATATCTG	NONE	.	.	PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF13,Pfam_domain:PF00817,PIRSF_domain:PIRSF036573	.	.	ENSP00000258428	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000258428	Transcript	.	.	ENSG00000135945	14060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.38)	.	REV1_HUMAN	REV1	HGNC	.	.	UPI0000073A14	SNV	REV1,missense_variant,p.Ile119Val,ENST00000450415,;REV1,missense_variant,p.Ile482Val,ENST00000258428,;REV1,missense_variant,p.Ile481Val,ENST00000393445,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,downstream_gene_variant,,ENST00000486117,;REV1,splice_region_variant,,ENST00000413697,;	1673	233	163	SUCCESS
TPO	7173	.	GRCh37	2	1459934	1459934	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	96	0	ENST00000329066.4:c.699G>A	p.Trp233Ter	p.W233*	ENST00000329066	NM_001206744.1	233	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS1643.1	699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGGGGACA	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,Prints_domain:PR00457	.	.	ENSP00000318820	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,stop_gained,p.Trp233Ter,ENST00000329066,;TPO,stop_gained,p.Trp233Ter,ENST00000337415,;TPO,stop_gained,p.Trp233Ter,ENST00000382198,;TPO,stop_gained,p.Trp233Ter,ENST00000382201,;TPO,stop_gained,p.Trp233Ter,ENST00000349624,;TPO,stop_gained,p.Trp233Ter,ENST00000346956,;TPO,stop_gained,p.Trp162Ter,ENST00000422464,;TPO,stop_gained,p.Trp233Ter,ENST00000345913,;TPO,downstream_gene_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	790	96	70	SUCCESS
XIRP2	129446	.	GRCh37	2	168102933	168102933	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	30	185	0	ENST00000409195.1:c.5031C>T	p.Ile1677=	p.I1677=	ENST00000409195	NM_152381.5	1677	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS42769.1	5031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCTTAAT	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	5120	185	157	SUCCESS
DNAH7	56171	.	GRCh37	2	196866480	196866480	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	126	0	ENST00000312428.6:c.1092T>A	p.Ala364=	p.A364=	ENST00000312428	NM_018897.2	364	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS42794.1	1092	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGCACA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	11/65	.	.	.	.	.	.	.	.	.	11/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000410072,;DNAH7,synonymous_variant,p.%3D,ENST00000312428,;	1193	126	103	SUCCESS
TRAK2	66008	.	GRCh37	2	202254174	202254174	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1559438421	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	43	0	ENST00000332624.3:c.1246G>A	p.Gly416Ser	p.G416S	ENST00000332624	NM_015049.2	416	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2347.1	1246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCCCGTG	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751,Pfam_domain:PF12448	.	.	ENSP00000328875	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.78)	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,missense_variant,p.Gly416Ser,ENST00000332624,;STRADB,intron_variant,,ENST00000458269,;	1675	43	56	SUCCESS
FZD5	7855	.	GRCh37	2	208632778	208632778	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751100293	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	64	1	ENST00000295417.3:c.686C>A	p.Ala229Asp	p.A229D	ENST00000295417	NM_003468.3	229	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33366.1	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCGGCACTG	NONE	.	.	hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF29,Pfam_domain:PF01534	.	.	ENSP00000354607	.	2/2	.	.	.	.	.	.	.	.	rs751100293	2/2	PASS	ENST00000295417	Transcript	.	.	ENSG00000163251	4043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.25)	.	FZD5_HUMAN	FZD5	HGNC	.	.	UPI000013E255	SNV	FZD5,missense_variant,p.Ala229Asp,ENST00000295417,;	1240	65	67	SUCCESS
FAM124B	79843	.	GRCh37	2	225266002	225266002	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	67	0	ENST00000409685.3:c.484A>T	p.Arg162Ter	p.R162*	ENST00000409685	NM_001122779.1	162	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46527.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTCTGCA	NONE	.	.	hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715,Pfam_domain:PF15067	.	.	ENSP00000386895	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000409685	Transcript	.	.	ENSG00000124019	26224	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F124B_HUMAN	FAM124B	HGNC	.	.	UPI00002096DA	SNV	FAM124B,stop_gained,p.Arg162Ter,ENST00000409685,;FAM124B,stop_gained,p.Arg162Ter,ENST00000389874,;FAM124B,stop_gained,p.Arg162Ter,ENST00000243806,;	750	67	78	SUCCESS
USP40	55230	.	GRCh37	2	234442150	234442150	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	24	116	0	ENST00000251722.6:c.1443A>G	p.Lys481=	p.K481=	ENST00000251722		481	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS46547.1	1479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGATTTCCG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006,Superfamily_domains:SSF54001	.	.	ENSP00000415434	.	10/31	.	.	.	.	.	.	.	.	.	10/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,synonymous_variant,p.%3D,ENST00000251722,;USP40,synonymous_variant,p.%3D,ENST00000427112,;USP40,synonymous_variant,p.%3D,ENST00000450966,;USP40,intron_variant,,ENST00000485943,;	1479	116	99	SUCCESS
FAM179A	0	.	GRCh37	2	29222109	29222109	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	73	0	ENST00000379558.4:c.202G>T	p.Gly68Ter	p.G68*	ENST00000379558	NM_199280.2	68	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS1769.2	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGTGGACTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000368876	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,stop_gained,p.Gly68Ter,ENST00000420297,;FAM179A,stop_gained,p.Gly68Ter,ENST00000403861,;FAM179A,stop_gained,p.Gly68Ter,ENST00000379558,;FAM179A,intron_variant,,ENST00000401723,;	553	73	56	SUCCESS
C2orf71	0	.	GRCh37	2	29295459	29295459	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	67	0	ENST00000331664.5:c.1669G>T	p.Val557Leu	p.V557L	ENST00000331664	NM_001029883.2	557	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42669.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACAGGGA	NONE	.	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.22)	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,missense_variant,p.Val557Leu,ENST00000331664,;	1669	67	46	SUCCESS
CH17-132F21.1	0	.	GRCh37	2	90458641	90458641	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	6	126	0	ENST00000603238.1:c.317A>T	p.Tyr106Phe	p.Y106F	ENST00000603238		106	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	.	317	MUTECT|MUSE	.	AACTTATTACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000474044	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000603238	Transcript	.	.	ENSG00000270999	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CH17-132F21.1	Clone_based_vega_gene	S4R394_HUMAN	.	UPI0003335187	SNV	CH17-132F21.1,missense_variant,p.Tyr106Phe,ENST00000603238,;	317	126	97	SUCCESS
DBR1	51163	.	GRCh37	3	137893758	137893758	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	13	0	ENST00000260803.4:c.-121A>C		p.*41*	ENST00000260803	NM_016216.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33863.1	.	MUTECT|MUSE	.	TAGACTCCTGC	NONE	.	.	.	.	.	ENSP00000260803	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000260803	Transcript	.	.	ENSG00000138231	15594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DBR1_HUMAN	DBR1	HGNC	F5GWV2_HUMAN	.	UPI000006DFC5	SNV	DBR1,5_prime_UTR_variant,,ENST00000260803,;DBR1,upstream_gene_variant,,ENST00000505015,;DBR1,upstream_gene_variant,,ENST00000463982,;DBR1,upstream_gene_variant,,ENST00000477557,;	34	13	17	SUCCESS
C3orf72	0	.	GRCh37	3	138666188	138666188	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	20	0	ENST00000383165.3:c.-19C>A		p.*7*	ENST00000383165	NM_001040061.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43155.1	.	MUTECT|MUSE	.	TCGCTCTGCGG	NONE	.	.	.	.	.	ENSP00000372651	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000383165	Transcript	.	.	ENSG00000206262	34428	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC072_HUMAN	C3orf72	HGNC	.	.	UPI00001C0AE3	SNV	C3orf72,5_prime_UTR_variant,,ENST00000383165,;FOXL2,upstream_gene_variant,,ENST00000330315,;RP11-548O1.3,upstream_gene_variant,,ENST00000483650,;RP11-548O1.3,upstream_gene_variant,,ENST00000495287,;RP11-548O1.3,upstream_gene_variant,,ENST00000477059,;C3orf72,5_prime_UTR_variant,,ENST00000470680,;C3orf72,upstream_gene_variant,,ENST00000498709,;	113	20	26	SUCCESS
PCYT1A	5130	.	GRCh37	3	195975135	195975135	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs938675798	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	74	0	ENST00000292823.2:c.277G>T	p.Ala93Ser	p.A93S	ENST00000292823	NM_005017.2	93	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3315.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGCGTGAC	NONE	.	.	hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF19,Pfam_domain:PF01467,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00125,Superfamily_domains:SSF52374	.	.	ENSP00000292823	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000292823	Transcript	.	.	ENSG00000161217	8754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	PCY1A_HUMAN	PCYT1A	HGNC	C9JVS0_HUMAN,C9JPY0_HUMAN,C9J050_HUMAN	.	UPI000000DB72	SNV	PCYT1A,missense_variant,p.Ala93Ser,ENST00000419333,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000431016,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000412869,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000411591,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000292823,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000441879,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000443555,;PCYT1A,missense_variant,p.Ala27Ser,ENST00000430755,;PCYT1A,upstream_gene_variant,,ENST00000433733,;AC069257.8,upstream_gene_variant,,ENST00000425275,;AC069257.8,upstream_gene_variant,,ENST00000608995,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000491544,;PCYT1A,missense_variant,p.Ala93Ser,ENST00000444822,;PCYT1A,3_prime_UTR_variant,,ENST00000438634,;RP11-447L10.1,3_prime_UTR_variant,,ENST00000431391,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000460677,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000488235,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000473978,;	450	74	56	SUCCESS
CTNNB1	1499	.	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	56	0	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2694.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAAAACTAC	SITE|p.K335I|c.1004A>T|14	.	.	PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869	.	.	ENSP00000344456	.	7/15	.	.	.	.	.	.	.	.	COSM17797,COSM1725761	7/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000488914,;	1284	56	62	SUCCESS
FAM86DP	692099	.	GRCh37	3	75472165	75472165	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	371	13	491	0	ENST00000459803.1:n.977C>G		p.*326*	ENST00000459803				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	AAACAGTTTCT	NONE	.	.	.	.	.	.	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000459803	Transcript	.	.	ENSG00000244026	32659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FAM86DP	HGNC	.	.	.	SNV	FAM86DP,non_coding_transcript_exon_variant,,ENST00000489609,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000484945,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000459803,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000497543,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000478666,;FAM86DP,downstream_gene_variant,,ENST00000491583,;FAM86DP,non_coding_transcript_exon_variant,,ENST00000477247,;ALG1L6P,downstream_gene_variant,,ENST00000515248,;	977	491	384	SUCCESS
SRGAP3	9901	.	GRCh37	3	9101941	9101941	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	98	0	ENST00000383836.3:c.775A>C	p.Ile259Leu	p.I259L	ENST00000383836	NM_014850.3	259	Atc/Ctc	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS2572.1	775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATGTAGT	NONE	.	.	hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Superfamily_domains:SSF103657	.	.	ENSP00000373347	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000383836	Transcript	.	.	ENSG00000196220	19744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	tolerated(0.57)	.	SRGP3_HUMAN	SRGAP3	HGNC	.	.	UPI0000074099	SNV	SRGAP3,missense_variant,p.Ile259Leu,ENST00000360413,;SRGAP3,missense_variant,p.Ile259Leu,ENST00000383836,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000480750,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000485983,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000470951,;	1203	98	78	SUCCESS
FAM160A1	0	.	GRCh37	4	152550986	152550986	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	73	0	ENST00000435205.1:c.1111G>A	p.Asp371Asn	p.D371N	ENST00000435205	NM_001109977.1	371	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS47146.1	1111	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTAGACACT	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705,Pfam_domain:PF10257	.	.	ENSP00000413196	.	8/14	.	.	.	.	.	.	.	.	COSM1594366,COSM1594367	8/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Asp371Asn,ENST00000435205,;FAM160A1,missense_variant,p.Asp371Asn,ENST00000505231,;	1686	73	47	SUCCESS
SFRP2	6423	.	GRCh37	4	154709533	154709533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	54	0	ENST00000274063.4:c.455G>T	p.Cys152Phe	p.C152F	ENST00000274063	NM_003013.2	152	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS34082.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCAAAGG	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF45,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000274063	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000274063	Transcript	.	.	ENSG00000145423	10777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SFRP2_HUMAN	SFRP2	HGNC	B3KSM5_HUMAN	.	UPI000004BE89	SNV	SFRP2,missense_variant,p.Cys152Phe,ENST00000274063,;	740	54	53	SUCCESS
STOX2	56977	.	GRCh37	4	184931082	184931082	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1246197618	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	82	0	ENST00000308497.4:c.1091G>A	p.Arg364Gln	p.R364Q	ENST00000308497	NM_020225.1	364	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS47167.1	1091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCGGAAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22437:SF2,hmmpanther:PTHR22437	.	.	ENSP00000311257	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000308497	Transcript	.	.	ENSG00000173320	25450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	STOX2_HUMAN	STOX2	HGNC	D6RDA5_HUMAN	.	UPI00001C1E11	SNV	STOX2,missense_variant,p.Arg364Gln,ENST00000438269,;STOX2,missense_variant,p.Arg364Gln,ENST00000308497,;STOX2,intron_variant,,ENST00000513034,;STOX2,downstream_gene_variant,,ENST00000512520,;STOX2,upstream_gene_variant,,ENST00000506529,;	2526	82	45	SUCCESS
RGS12	6002	.	GRCh37	4	3415912	3415912	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	22	0	ENST00000336727.3:c.2134T>A	p.Trp712Arg	p.W712R	ENST00000336727	NM_002926.3	712	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS3366.1	2134	MUTECT|MUSE	.	CCAGCTGGGCC	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF149,Gene3D:1.10.196.10,Superfamily_domains:SSF48097,Prints_domain:PR01301	.	.	ENSP00000339381	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000344733	Transcript	.	.	ENSG00000159788	9994	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGS12_HUMAN	RGS12	HGNC	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN	.	UPI0000133830	SNV	RGS12,missense_variant,p.Trp54Arg,ENST00000538395,;RGS12,missense_variant,p.Trp712Arg,ENST00000336727,;RGS12,missense_variant,p.Trp712Arg,ENST00000382788,;RGS12,missense_variant,p.Trp110Arg,ENST00000306648,;RGS12,missense_variant,p.Trp712Arg,ENST00000344733,;RGS12,missense_variant,p.Trp64Arg,ENST00000338806,;RGS12,3_prime_UTR_variant,,ENST00000543385,;RGS12,non_coding_transcript_exon_variant,,ENST00000505570,;RGS12,non_coding_transcript_exon_variant,,ENST00000512990,;RGS12,non_coding_transcript_exon_variant,,ENST00000503041,;RGS12,non_coding_transcript_exon_variant,,ENST00000513784,;RGS12,non_coding_transcript_exon_variant,,ENST00000508158,;RGS12,upstream_gene_variant,,ENST00000515521,;RGS12,3_prime_UTR_variant,,ENST00000514268,;RGS12,non_coding_transcript_exon_variant,,ENST00000506998,;RGS12,non_coding_transcript_exon_variant,,ENST00000512266,;RGS12,non_coding_transcript_exon_variant,,ENST00000506631,;RGS12,non_coding_transcript_exon_variant,,ENST00000504194,;RGS12,non_coding_transcript_exon_variant,,ENST00000513991,;	3038	22	10	SUCCESS
ZNF595	152687	.	GRCh37	4	59395	59395	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	196	10	247	0	ENST00000526473.2:c.76C>T	p.Gln26Ter	p.Q26*	ENST00000526473		26	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	.	76	MUTECT|MUSE	.	CCCAGCAGAAT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR23232:SF44,hmmpanther:PTHR23232,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000437878	.	2/4	.	.	.	.	.	.	.	.	COSM1271606	2/4	PASS	ENST00000526473	Transcript	.	.	ENSG00000197701	27196	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	.	ZNF595	HGNC	F5H663_HUMAN	.	UPI00020651F4	SNV	ZNF595,stop_gained,p.Gln26Ter,ENST00000526473,;ZNF595,stop_gained,p.Gln26Ter,ENST00000509152,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;ZNF595,intron_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;	249	247	206	SUCCESS
CCSER1	401145	.	GRCh37	4	91389492	91389492	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	163	0	ENST00000509176.1:c.1711G>A	p.Glu571Lys	p.E571K	ENST00000509176	NM_001145065.1	571	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47099.1	1711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGAGCCT	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	5/11	.	.	.	.	.	.	.	.	COSM3661265,COSM3661264,COSM3661263	5/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.795)	.	tolerated(0.19)	1,1,1	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Glu571Lys,ENST00000509176,;CCSER1,missense_variant,p.Glu571Lys,ENST00000333691,;CCSER1,missense_variant,p.Glu571Lys,ENST00000432775,;CCSER1,missense_variant,p.Glu571Lys,ENST00000505073,;CCSER1,non_coding_transcript_exon_variant,,ENST00000514352,;CCSER1,non_coding_transcript_exon_variant,,ENST00000508086,;	1999	163	137	SUCCESS
EPB41L4A	64097	.	GRCh37	5	111598279	111598279	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs779283453	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	55	0	ENST00000261486.5:c.555-1G>A		p.X185_splice	ENST00000261486	NM_022140.3	185		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43350.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCCTACAC	NONE	.	.	.	.	.	ENSP00000261486	.	.	.	.	.	.	.	.	.	.	rs779283453	.	PASS	ENST00000261486	Transcript	.	.	ENSG00000129595	13278	.	.	HIGH	6/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41LA_HUMAN	EPB41L4A	HGNC	Q8NEH8_HUMAN	.	UPI000020C3F8	SNV	EPB41L4A,splice_acceptor_variant,,ENST00000261486,;EPB41L4A,splice_acceptor_variant,,ENST00000512395,;EPB41L4A,splice_acceptor_variant,,ENST00000511405,;EPB41L4A,downstream_gene_variant,,ENST00000305368,;	.	55	57	SUCCESS
SLC12A2	6558	.	GRCh37	5	127466833	127466833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	191	0	ENST00000262461.2:c.1123G>T	p.Ala375Ser	p.A375S	ENST00000262461	NM_001046.2	375	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4144.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGCCAAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF58,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324	.	.	ENSP00000262461	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0)	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,missense_variant,p.Ala375Ser,ENST00000343225,;SLC12A2,missense_variant,p.Ala375Ser,ENST00000262461,;SLC12A2,missense_variant,p.Ala375Ser,ENST00000509205,;	1312	191	114	SUCCESS
SAR1B	51128	.	GRCh37	5	133945276	133945276	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	89	0	ENST00000402673.2:c.333A>T	p.Ser111=	p.S111=	ENST00000402673	NM_016103.3	111	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4177.1	333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTGACTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Gene3D:3.40.50.300,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711:SF107,hmmpanther:PTHR11711,PROSITE_profiles:PS51422	.	.	ENSP00000385432	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000402673	Transcript	1	.	ENSG00000152700	10535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAR1B_HUMAN	SAR1B	HGNC	Q9H029_HUMAN,D6RD69_HUMAN,D6RAA2_HUMAN,D6R9R5_HUMAN	.	UPI0000135569	SNV	SAR1B,synonymous_variant,p.%3D,ENST00000509730,;SAR1B,synonymous_variant,p.%3D,ENST00000507419,;SAR1B,synonymous_variant,p.%3D,ENST00000502539,;SAR1B,synonymous_variant,p.%3D,ENST00000402673,;SAR1B,synonymous_variant,p.%3D,ENST00000439578,;SAR1B,synonymous_variant,p.%3D,ENST00000509937,;SAR1B,synonymous_variant,p.%3D,ENST00000505758,;SAR1B,downstream_gene_variant,,ENST00000502286,;SAR1B,synonymous_variant,p.%3D,ENST00000503318,;SAR1B,non_coding_transcript_exon_variant,,ENST00000508363,;	612	89	73	SUCCESS
TNIP1	10318	.	GRCh37	5	150441768	150441768	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766717200	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	74	0	ENST00000315050.7:c.277G>T	p.Asp93Tyr	p.D93Y	ENST00000315050	NM_001252391.1	93	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34280.1	277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTCCTTTC	NONE	byFrequency	.	hmmpanther:PTHR31882:SF3,hmmpanther:PTHR31882	.	.	ENSP00000374029	.	4/18	.	.	.	.	.	.	.	.	rs766717200	4/18	PASS	ENST00000389378	Transcript	.	.	ENSG00000145901	16903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	deleterious(0.01)	.	TNIP1_HUMAN	TNIP1	HGNC	E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN	.	UPI000000DCDC	SNV	TNIP1,missense_variant,p.Asp40Tyr,ENST00000522100,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000518977,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000523200,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000523338,;TNIP1,missense_variant,p.Asp40Tyr,ENST00000520931,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000524280,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000315050,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000522226,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000520695,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000389378,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000521001,;TNIP1,missense_variant,p.Asp93Tyr,ENST00000521591,;TNIP1,missense_variant,p.Asp40Tyr,ENST00000519339,;	866	74	53	SUCCESS
SOX30	11063	.	GRCh37	5	157053726	157053726	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	39	0	ENST00000265007.6:c.1884A>G	p.Thr628=	p.T628=	ENST00000265007	NM_178424.1	628	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4339.1	1884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCATGTACT	NONE	.	.	hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	.	.	ENSP00000265007	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000265007	Transcript	.	.	ENSG00000039600	30635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX30_HUMAN	SOX30	HGNC	.	.	UPI00001362BA	SNV	SOX30,missense_variant,p.His464Arg,ENST00000311371,;SOX30,synonymous_variant,p.%3D,ENST00000265007,;SOX30,synonymous_variant,p.%3D,ENST00000519442,;	2226	39	47	SUCCESS
GABRA6	2559	.	GRCh37	5	161113294	161113294	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	84	0	ENST00000274545.5:c.97A>G	p.Ser33Gly	p.S33G	ENST00000274545		33	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS4356.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCAGTCGG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079	.	.	ENSP00000274545	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	deleterious(0)	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,missense_variant,p.Ser33Gly,ENST00000523217,;GABRA6,missense_variant,p.Ser33Gly,ENST00000274545,;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000517823,;GABRA6,upstream_gene_variant,,ENST00000523691,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	530	84	53	SUCCESS
SNCB	6620	.	GRCh37	5	176056854	176056854	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	16	0	ENST00000310112.3:c.-54C>T		p.*18*	ENST00000310112	NM_001001502.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4406.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCGTCCTT	NONE	.	.	.	.	.	ENSP00000308057	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000310112	Transcript	.	.	ENSG00000074317	11140	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYUB_HUMAN	SNCB	HGNC	G4Y816_HUMAN	.	UPI000003173C	SNV	SNCB,5_prime_UTR_variant,,ENST00000310112,;SNCB,5_prime_UTR_variant,,ENST00000510387,;SNCB,intron_variant,,ENST00000506696,;SNCB,intron_variant,,ENST00000393693,;EIF4E1B,upstream_gene_variant,,ENST00000318682,;EIF4E1B,upstream_gene_variant,,ENST00000510660,;MIR4281,upstream_gene_variant,,ENST00000580852,;EIF4E1B,upstream_gene_variant,,ENST00000510473,;SNCB,non_coding_transcript_exon_variant,,ENST00000508006,;EIF4E1B,upstream_gene_variant,,ENST00000515458,;	198	16	20	SUCCESS
VCAN	1462	.	GRCh37	5	82816091	82816091	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	85	0	ENST00000265077.3:c.1966T>C	p.Phe656Leu	p.F656L	ENST00000265077	NM_004385.4	656	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS4060.1	1966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGTTTCCT	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.27)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.Phe656Leu,ENST00000342785,;VCAN,missense_variant,p.Phe656Leu,ENST00000265077,;VCAN,missense_variant,p.Phe608Leu,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000343200,;VCAN,intron_variant,,ENST00000515397,;	2531	85	58	SUCCESS
HIVEP1	3096	.	GRCh37	6	12120854	12120854	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750952296	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	99	0	ENST00000379388.2:c.826G>T	p.Ala276Ser	p.A276S	ENST00000379388	NM_002114.2	276	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS43426.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGGGCAATG	NONE	byFrequency	.	hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	rs750952296	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,missense_variant,p.Ala276Ser,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;	1158	99	77	SUCCESS
SYNE1	23345	.	GRCh37	6	152757118	152757118	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs773414552	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	136	1	ENST00000367255.5:c.4268T>A	p.Ile1423Asn	p.I1423N	ENST00000367255	NM_182961.3	1423	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS5236.2	4268	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTGATTGAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	33/146	.	.	.	.	.	.	.	.	rs773414552	33/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.649)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Ile1413Asn,ENST00000367248,;SYNE1,missense_variant,p.Ile1430Asn,ENST00000423061,;SYNE1,missense_variant,p.Ile1430Asn,ENST00000448038,;SYNE1,missense_variant,p.Ile1423Asn,ENST00000367255,;SYNE1,missense_variant,p.Ile1423Asn,ENST00000413186,;SYNE1,missense_variant,p.Ile1423Asn,ENST00000367253,;SYNE1,missense_variant,p.Ile1489Asn,ENST00000341594,;SYNE1,missense_variant,p.Ile1423Asn,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	4870	137	103	SUCCESS
TIAM2	26230	.	GRCh37	6	155498070	155498070	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	67	0	ENST00000318981.5:c.2482C>T	p.Pro828Ser	p.P828S	ENST00000318981	NM_012454.3	828	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS34558.1	2482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGCCAGAG	NONE	.	.	PROSITE_profiles:PS50898,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826,SMART_domains:SM00455	.	.	ENSP00000437188	.	12/29	.	.	.	.	.	.	.	.	.	12/29	PASS	ENST00000461783	Transcript	.	.	ENSG00000146426	11806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.06)	.	TIAM2_HUMAN	TIAM2	HGNC	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN	.	UPI00004DF8BE	SNV	TIAM2,missense_variant,p.Pro828Ser,ENST00000461783,;TIAM2,missense_variant,p.Pro828Ser,ENST00000318981,;TIAM2,missense_variant,p.Pro164Ser,ENST00000528391,;TIAM2,missense_variant,p.Pro828Ser,ENST00000528535,;TIAM2,missense_variant,p.Pro828Ser,ENST00000456144,;TIAM2,missense_variant,p.Pro204Ser,ENST00000367174,;TIAM2,missense_variant,p.Pro828Ser,ENST00000529824,;TIAM2,missense_variant,p.Pro852Ser,ENST00000360366,;TIAM2,missense_variant,p.Pro140Ser,ENST00000456877,;	3755	67	66	SUCCESS
MDC1	9656	.	GRCh37	6	30681730	30681731	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	67	23	93	0	ENST00000376406.3:c.366_367del	p.Phe123CysfsTer2	p.F123Cfs*2	ENST00000376406	NM_014641.2	122	ctCTtt/cttt	0	.	.	.	.	.	-	LF/LX	protein_coding	YES	CCDS34384.1	366-367	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCAAAGAGAAT	NONE	.	.	Superfamily_domains:SSF49879,Pfam_domain:PF00498,Gene3D:2.60.200.20,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	deletion	MDC1,frameshift_variant,p.Phe123CysfsTer2,ENST00000376405,;MDC1,frameshift_variant,p.Phe123CysfsTer2,ENST00000425072,;MDC1,frameshift_variant,p.Phe123CysfsTer2,ENST00000376406,;MDC1,frameshift_variant,p.Phe123CysfsTer2,ENST00000416571,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,upstream_gene_variant,,ENST00000417033,;MDC1-AS1,downstream_gene_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000494654,;	1014-1015	93	90	SUCCESS
C6orf226	441150	.	GRCh37	6	42858426	42858426	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	50	0	ENST00000408925.2:c.101T>C	p.Leu34Pro	p.L34P	ENST00000408925	NM_001008739.1	34	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS43463.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGAGTTCC	NONE	.	.	.	.	.	ENSP00000386146	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408925	Transcript	.	.	ENSG00000221821	34431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious_low_confidence(0)	.	CF226_HUMAN	C6orf226	HGNC	.	.	UPI0000036206	SNV	C6orf226,missense_variant,p.Leu34Pro,ENST00000408925,;RPL7L1,downstream_gene_variant,,ENST00000493763,;RPL7L1,downstream_gene_variant,,ENST00000304734,;RPL7L1,downstream_gene_variant,,ENST00000602561,;RPL7L1,downstream_gene_variant,,ENST00000424341,;RPL7L1,downstream_gene_variant,,ENST00000483998,;RPL7L1,downstream_gene_variant,,ENST00000397415,;RPL7L1,downstream_gene_variant,,ENST00000462348,;RPL7L1,downstream_gene_variant,,ENST00000459829,;	129	50	39	SUCCESS
SRSF12	135295	.	GRCh37	6	89827583	89827583	+	synonymous_variant	Silent	SNP	G	G	A	rs749948360	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	71	0	ENST00000452027.2:c.24C>T	p.Pro8=	p.P8=	ENST00000452027	NM_080743.4	8	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47459.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR23147,hmmpanther:PTHR23147:SF3,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000414302	.	1/5	.	.	.	.	.	.	.	.	rs749948360	1/5	PASS	ENST00000452027	Transcript	.	.	ENSG00000154548	21220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRS12_HUMAN	SRSF12	HGNC	B3KVR7_HUMAN	.	UPI00000721B8	SNV	SRSF12,synonymous_variant,p.%3D,ENST00000452027,;SRSF12,synonymous_variant,p.%3D,ENST00000517387,;SRSF12,synonymous_variant,p.%3D,ENST00000475068,;	218	71	87	SUCCESS
RASA4	10156	.	GRCh37	7	102257057	102257057	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	14	249	1	ENST00000262940.7:c.65+15G>A		p.*22*	ENST00000262940	NM_006989.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5725.1	.	MUTECT|MUSE	.	CCACCCCCGGC	NONE	.	.	.	.	.	ENSP00000262940	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262940	Transcript	.	.	ENSG00000105808	23181	.	.	MODIFIER	1/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASL2_HUMAN	RASA4	HGNC	E7ERK1_HUMAN,E5RGQ8_HUMAN	.	UPI00001BBB72	SNV	RASA4,5_prime_UTR_variant,,ENST00000462172,;RASA4,5_prime_UTR_variant,,ENST00000521076,;RASA4,intron_variant,,ENST00000449970,;RASA4,intron_variant,,ENST00000262940,;RASA4,intron_variant,,ENST00000522801,;RASA4,upstream_gene_variant,,ENST00000520042,;RASA4,intron_variant,,ENST00000523568,;RP11-514P8.6,intron_variant,,ENST00000519541,;RASA4,intron_variant,,ENST00000521892,;RASA4,intron_variant,,ENST00000522443,;	.	250	151	SUCCESS
LAMB1	3912	.	GRCh37	7	107580787	107580787	+	synonymous_variant	Silent	SNP	G	G	A	rs971343938	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	33	0	ENST00000222399.6:c.3408C>T	p.Pro1136=	p.P1136=	ENST00000222399	NM_002291.2	1136	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5750.1	3408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTGGGGTC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196,Prints_domain:PR00011	.	.	ENSP00000222399	.	25/34	.	.	.	.	.	.	.	.	COSM1547820	25/34	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	SNV	LAMB1,synonymous_variant,p.%3D,ENST00000393561,;LAMB1,synonymous_variant,p.%3D,ENST00000222399,;CTB-13F3.1,upstream_gene_variant,,ENST00000608515,;LAMB1,non_coding_transcript_exon_variant,,ENST00000468999,;LAMB1,upstream_gene_variant,,ENST00000491196,;LAMB1,downstream_gene_variant,,ENST00000476039,;LAMB1,upstream_gene_variant,,ENST00000470995,;LAMB1,upstream_gene_variant,,ENST00000474380,;	3639	33	38	SUCCESS
CYP3A5	1577	.	GRCh37	7	99273903	99273903	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	54	0	ENST00000222982.4:c.72-72C>T		p.*24*	ENST00000222982	NM_000777.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5672.1	.	MUTECT|MUSE	.	ACTCAGGAACT	NONE	.	.	.	.	.	ENSP00000222982	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,intron_variant,,ENST00000222982,;CYP3A5,intron_variant,,ENST00000439761,;CYP3A5,intron_variant,,ENST00000343703,;CYP3A5,intron_variant,,ENST00000480723,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,intron_variant,,ENST00000466061,;CYP3A5,intron_variant,,ENST00000489231,;CYP3A5,intron_variant,,ENST00000463907,;CYP3A5,intron_variant,,ENST00000456417,;CYP3A5,intron_variant,,ENST00000463364,;CYP3A5,intron_variant,,ENST00000469622,;	.	54	50	SUCCESS
CSMD3	114788	.	GRCh37	8	113304861	113304861	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1443134686	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	186	22	88	0	ENST00000297405.5:c.8693C>A	p.Thr2898Lys	p.T2898K	ENST00000297405	NM_198123.1	2898	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS6315.1	8693	RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGTTACC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	55/71	.	.	.	.	.	.	.	.	.	55/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.542)	.	tolerated(0.98)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Thr2828Lys,ENST00000352409,;CSMD3,missense_variant,p.Thr2729Lys,ENST00000455883,;CSMD3,missense_variant,p.Thr2898Lys,ENST00000297405,;CSMD3,missense_variant,p.Thr2168Lys,ENST00000339701,;CSMD3,missense_variant,p.Thr2858Lys,ENST00000343508,;	8938	88	209	SUCCESS
POU5F1B	5462	.	GRCh37	8	128428177	128428199	+	frameshift_variant	Frame_Shift_Del	DEL	ATGGGGGGCGGAGCCGGGCTGGG	ATGGGGGGCGGAGCCGGGCTGGG	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	ATGGGGGGCGGAGCCGGGCTGGG	ATGGGGGGCGGAGCCGGGCTGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	52	0	ENST00000465342.2:c.66_88del	p.Trp23Ter	p.W23*	ENST00000465342		22	ccATGGGGGGCGGAGCCGGGCTGGGtt/cctt	0	.	.	.	.	.	-	PWGAEPGWV/PX	protein_coding	YES	CCDS55274.1	66-88	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCCATGGGGGGCGGAGCCGGGCTGGGTTGAT	NONE	.	.	hmmpanther:PTHR11636:SF15,hmmpanther:PTHR11636,Low_complexity_(Seg):seg	.	.	ENSP00000419298	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000465342	Transcript	.	.	ENSG00000212993	9223	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P5F1B_HUMAN	POU5F1B	HGNC	D5K9T1_HUMAN	.	UPI000013F18B	deletion	POU5F1B,frameshift_variant,p.Trp23Ter,ENST00000465342,;POU5F1B,frameshift_variant,p.Trp23Ter,ENST00000391675,;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	1223-1245	52	68	SUCCESS
CYP11B2	1585	.	GRCh37	8	143994269	143994269	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	19	63	0	ENST00000323110.2:c.1154T>C	p.Val385Ala	p.V385A	ENST00000323110	NM_000498.3	385	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6393.1	1154	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCACTCGC	NONE	.	.	hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000325822	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000323110	Transcript	1	.	ENSG00000179142	2592	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.063)	.	tolerated(0.38)	.	C11B2_HUMAN	CYP11B2	HGNC	Q14098_HUMAN	.	UPI00001282CF	SNV	CYP11B2,missense_variant,p.Val385Ala,ENST00000323110,;GML,intron_variant,,ENST00000522728,;	1157	63	121	SUCCESS
TONSL	4796	.	GRCh37	8	145660436	145660436	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	20	57	0	ENST00000409379.3:c.2970G>C	p.Gln990His	p.Q990H	ENST00000409379	NM_013432.4	990	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS34968.2	2970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCTGTGG	NONE	.	.	hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139	.	.	ENSP00000386239	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000409379	Transcript	.	.	ENSG00000160949	7801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.07)	.	TONSL_HUMAN	TONSL	HGNC	.	.	UPI0000424A3B	SNV	TONSL,missense_variant,p.Gln990His,ENST00000409379,;AC084125.4,upstream_gene_variant,,ENST00000544423,;AC084125.4,upstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	3000	57	97	SUCCESS
DPYSL2	1808	.	GRCh37	8	26485436	26485436	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	61	0	ENST00000311151.5:c.670G>T	p.Val224Leu	p.V224L	ENST00000311151	NM_001386.5	224	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS6051.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGTGCTG	NONE	.	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Gene3D:3.20.20.140,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	.	ENSP00000309539	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000311151	Transcript	.	.	ENSG00000092964	3014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.41)	.	DPYL2_HUMAN	DPYSL2	HGNC	Q8NAN9_HUMAN,A9CQZ2_HUMAN	.	UPI0000129864	SNV	DPYSL2,missense_variant,p.Val188Leu,ENST00000521913,;DPYSL2,missense_variant,p.Val224Leu,ENST00000311151,;DPYSL2,missense_variant,p.Val188Leu,ENST00000523027,;DPYSL2,non_coding_transcript_exon_variant,,ENST00000521983,;DPYSL2,downstream_gene_variant,,ENST00000523690,;DPYSL2,non_coding_transcript_exon_variant,,ENST00000523093,;	1082	61	24	SUCCESS
STMN4	81551	.	GRCh37	8	27099966	27099966	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	25	52	0	ENST00000265770.7:c.57C>T	p.Phe19=	p.F19=	ENST00000265770	NM_001283054.1	19	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS6055.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGAACAA	NONE	.	.	hmmpanther:PTHR10104:SF6,hmmpanther:PTHR10104,PIRSF_domain:PIRSF002285	.	.	ENSP00000342538	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000350889	Transcript	.	.	ENSG00000015592	16078	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STMN4_HUMAN	STMN4	HGNC	.	.	UPI000002B451	SNV	STMN4,synonymous_variant,p.%3D,ENST00000519614,;STMN4,synonymous_variant,p.%3D,ENST00000523048,;STMN4,synonymous_variant,p.%3D,ENST00000350889,;STMN4,synonymous_variant,p.%3D,ENST00000265770,;STMN4,synonymous_variant,p.%3D,ENST00000519997,;STMN4,synonymous_variant,p.%3D,ENST00000522908,;STMN4,non_coding_transcript_exon_variant,,ENST00000522750,;	171	52	42	SUCCESS
RP1	6101	.	GRCh37	8	55533949	55533949	+	synonymous_variant	Silent	SNP	C	C	T	rs766819017	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	45	0	ENST00000220676.1:c.423C>T	p.Pro141=	p.P141=	ENST00000220676	NM_006269.1	141	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6160.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCGTAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs766819017	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,synonymous_variant,p.%3D,ENST00000220676,;	571	45	106	SUCCESS
HNF4G	3174	.	GRCh37	8	76471204	76471204	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	18	73	0	ENST00000354370.1:c.914A>T	p.Gln305Leu	p.Q305L	ENST00000354370		305	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6220.2	1025	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCAAATAC	NONE	.	.	hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Pfam_domain:PF00104,Superfamily_domains:SSF48508,Prints_domain:PR01282	.	.	ENSP00000379701	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000396423	Transcript	.	.	ENSG00000164749	5026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.205)	.	deleterious(0.03)	.	HNF4G_HUMAN	HNF4G	HGNC	F1D8Q4_HUMAN	.	UPI0000D47E07	SNV	HNF4G,missense_variant,p.Gln342Leu,ENST00000396423,;HNF4G,missense_variant,p.Gln305Leu,ENST00000354370,;	1149	73	126	SUCCESS
OR13C9	286362	.	GRCh37	9	107379836	107379836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	70	0	ENST00000259362.1:c.650C>A	p.Ser217Tyr	p.S217Y	ENST00000259362	NM_001001956.1	217	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS35093.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAAGAGATA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF143,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000259362	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259362	Transcript	.	.	ENSG00000136839	15104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	O13C9_HUMAN	OR13C9	HGNC	Q8NGV4_HUMAN	.	UPI0000041D56	SNV	OR13C9,missense_variant,p.Ser217Tyr,ENST00000259362,;	650	70	50	SUCCESS
TAL2	6887	.	GRCh37	9	108425042	108425042	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs573416391	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	87	0	ENST00000334077.3:c.265G>T	p.Asp89Tyr	p.D89Y	ENST00000334077	NM_005421.2	89	Gac/Tac	0	.	A:0.0008	.	A:0	.	T	D/Y	protein_coding	YES	CCDS6767.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGACAGA	NONE	by1000G	.	hmmpanther:PTHR13864:SF6,hmmpanther:PTHR13864	A:0	.	ENSP00000334547	A:0	1/1	.	.	.	.	.	.	.	.	rs573416391	1/1	PASS	ENST00000334077	Transcript	.	A:0.0002	ENSG00000186051	11557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	A:0	deleterious(0.01)	.	TAL2_HUMAN	TAL2	HGNC	.	.	UPI000013688A	SNV	TAL2,missense_variant,p.Asp89Tyr,ENST00000334077,;	305	87	74	SUCCESS
SEC16A	9919	.	GRCh37	9	139371483	139371483	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	51	0	ENST00000313050.7:c.585G>T	p.Val195=	p.V195=	ENST00000313050	NM_014866.1	195	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55351.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCACACC	NONE	.	.	.	.	.	ENSP00000325827	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000313050	Transcript	.	.	ENSG00000148396	29006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SEC16A	HGNC	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN	.	UPI0000F0888B	SNV	SEC16A,synonymous_variant,p.%3D,ENST00000290037,;SEC16A,synonymous_variant,p.%3D,ENST00000313050,;SEC16A,synonymous_variant,p.%3D,ENST00000431893,;SEC16A,synonymous_variant,p.%3D,ENST00000371706,;	659	51	49	SUCCESS
TOPORS	10210	.	GRCh37	9	32543636	32543636	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1388317247	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	30	0	ENST00000360538.2:c.887T>C	p.Leu296Ser	p.L296S	ENST00000360538	NM_005802.4	296	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS6527.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTAATCTG	NONE	.	.	hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456	.	.	ENSP00000353735	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,missense_variant,p.Leu296Ser,ENST00000360538,;TOPORS,missense_variant,p.Leu231Ser,ENST00000379858,;AL353671.2,upstream_gene_variant,,ENST00000359975,;AL353671.1,downstream_gene_variant,,ENST00000366355,;	1004	30	34	SUCCESS
AK3	50808	.	GRCh37	9	4741156	4741156	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs558314823	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	23	0	ENST00000381809.3:c.-69C>A		p.*23*	ENST00000381809	NM_016282.3			0	.	C:0.003	.	C:0	.	T	.	protein_coding	YES	CCDS6455.1	.	RADIA|MUTECT|MUSE	.	CGCTCGGCAGC	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000371230	C:0	1/5	.	.	.	.	.	.	.	.	rs558314823	1/5	PASS	ENST00000381809	Transcript	.	C:0.0008	ENSG00000147853	17376	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0	.	.	KAD3_HUMAN	AK3	HGNC	.	.	UPI000013DAE5	SNV	AK3,5_prime_UTR_variant,,ENST00000447596,;AK3,5_prime_UTR_variant,,ENST00000381809,;AK3,intron_variant,,ENST00000359883,;	163	23	12	SUCCESS
C9orf57	138240	.	GRCh37	9	74675473	74675473	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	47	0	ENST00000377024.3:c.-48C>T		p.*16*	ENST00000377024	NM_001128618.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47980.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGAGAAC	NONE	.	.	.	.	.	ENSP00000366223	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000377024	Transcript	.	.	ENSG00000204669	27037	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI057_HUMAN	C9orf57	HGNC	.	.	UPI0000160595	SNV	C9orf57,5_prime_UTR_variant,,ENST00000377024,;C9orf57,intron_variant,,ENST00000424431,;	49	47	34	SUCCESS
ANXA1	301	.	GRCh37	9	75782426	75782426	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	7	137	0	ENST00000257497.6:c.816A>T	p.Thr272=	p.T272=	ENST00000257497	NM_000700.1	272	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6645.1	816	MUTECT|MUSE	.	GCCACAAGCAA	NONE	.	.	Prints_domain:PR00197,Superfamily_domains:SSF47874,Gene3D:1.10.220.10,hmmpanther:PTHR10502:SF17,hmmpanther:PTHR10502	.	.	ENSP00000366109	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000376911	Transcript	.	.	ENSG00000135046	533	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANXA1_HUMAN	ANXA1	HGNC	Q5TZZ9_HUMAN,Q5T3N0_HUMAN,Q05BR2_HUMAN	.	UPI0000001C4C	SNV	ANXA1,synonymous_variant,p.%3D,ENST00000376911,;ANXA1,synonymous_variant,p.%3D,ENST00000257497,;ANXA1,downstream_gene_variant,,ENST00000456643,;ANXA1,non_coding_transcript_exon_variant,,ENST00000495713,;ANXA1,upstream_gene_variant,,ENST00000491192,;ANXA1,downstream_gene_variant,,ENST00000489109,;	1698	137	110	SUCCESS
USP9X	8239	.	GRCh37	X	41002598	41002598	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	124	157	0	ENST00000324545.8:c.1216C>G	p.Gln406Glu	p.Q406E	ENST00000324545	NM_001039590.2	406	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS43930.1	1216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCAGCCA	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359	.	.	ENSP00000316357	.	10/45	.	.	.	.	.	.	.	.	.	10/45	PASS	ENST00000324545	Transcript	.	.	ENSG00000124486	12632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0)	.	USP9X_HUMAN	USP9X	HGNC	.	.	UPI00001AF419	SNV	USP9X,missense_variant,p.Gln406Glu,ENST00000378308,;USP9X,missense_variant,p.Gln406Glu,ENST00000324545,;	1849	157	170	SUCCESS
CXorf67	0	.	GRCh37	X	51151038	51151038	+	synonymous_variant	Silent	SNP	T	T	A	rs782676115	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	54	52	0	ENST00000342995.2:c.1170T>A	p.Pro390=	p.P390=	ENST00000342995		390	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	.	1170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCTGAGGT	NONE	.	.	hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	rs782676115	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,synonymous_variant,p.%3D,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	1272	52	68	SUCCESS
SHOX	6473	.	GRCh37	X	595367	595368	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	71	16	117	0	ENST00000381578.1:c.293_294del	p.Lys98ArgfsTer83	p.K98Rfs*83	ENST00000381578	NM_000451.3	98	AAa/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS14107.1	292-293	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATGCAAAGAGA	NONE	.	.	hmmpanther:PTHR24329:SF311,hmmpanther:PTHR24329	.	.	ENSP00000370990	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000381578	Transcript	.	.	ENSG00000185960	10853	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHOX_HUMAN	SHOX	HGNC	.	.	UPI0000053471	deletion	SHOX,frameshift_variant,p.Lys98ArgfsTer83,ENST00000334060,;SHOX,frameshift_variant,p.Lys98ArgfsTer83,ENST00000554971,;SHOX,frameshift_variant,p.Lys98ArgfsTer83,ENST00000381578,;SHOX,frameshift_variant,p.Lys98ArgfsTer83,ENST00000381575,;	983-984	117	87	SUCCESS
GPR174	84636	.	GRCh37	X	78427073	78427073	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	74	0	ENST00000276077.1:c.569A>G	p.Glu190Gly	p.E190G	ENST00000276077	NM_032553.1	190	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS14443.1	569	MUTECT|MUSE|VARSCANS	.	TGGCGAGTTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24237:SF4,hmmpanther:PTHR24237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,missense_variant,p.Glu190Gly,ENST00000276077,;	605	74	64	SUCCESS
MYO3A	53904	.	GRCh37	10	26457744	26457744	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	78	0	ENST00000265944.5:c.3215C>T	p.Ser1072Leu	p.S1072L	ENST00000265944	NM_017433.4	1072	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS7148.1	3215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCAAGAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00015,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS50096	.	.	ENSP00000265944	.	28/35	.	.	.	.	.	.	.	.	.	28/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0.03)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Ser1072Leu,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;MYO3A,non_coding_transcript_exon_variant,,ENST00000477691,;	3381	78	78	SUCCESS
RAB18	22931	.	GRCh37	10	27821473	27821473	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1047532726	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	30	0	ENST00000356940.6:c.224C>T	p.Pro75Leu	p.P75L	ENST00000356940	NM_001256410.1	75	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS7155.1	224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCCCAGCT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF341,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00177,Superfamily_domains:SSF52540	.	.	ENSP00000349415	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000356940	Transcript	1	.	ENSG00000099246	14244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	RAB18_HUMAN	RAB18	HGNC	B7Z5V3_HUMAN	.	UPI0000000A00	SNV	RAB18,missense_variant,p.Pro75Leu,ENST00000356940,;RAB18,missense_variant,p.Pro188Leu,ENST00000423465,;RAB18,intron_variant,,ENST00000375802,;RAB18,intron_variant,,ENST00000535776,;RAB18,non_coding_transcript_exon_variant,,ENST00000465772,;	326	30	46	SUCCESS
RBP3	5949	.	GRCh37	10	48381913	48381913	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1285307142	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	54	0	ENST00000224600.4:c.3736C>T	p.His1246Tyr	p.H1246Y	ENST00000224600	NM_002900.2	1246	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS7218.1	3736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGGTCCT	NONE	.	.	.	.	.	ENSP00000224600	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000224600	Transcript	1	.	ENSG00000107618	9921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	RET3_HUMAN	RBP3	HGNC	.	.	UPI000012D87A	SNV	RBP3,missense_variant,p.His1246Tyr,ENST00000224600,;	3850	54	32	SUCCESS
AKR1C4	1109	.	GRCh37	10	5238811	5238811	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	56	0	ENST00000263126.1:c.-20A>G		p.*7*	ENST00000263126	NM_001818.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7064.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTAGTGAA	NONE	.	.	.	.	.	ENSP00000369814	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000380448	Transcript	1	.	ENSG00000198610	387	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AK1C4_HUMAN	AKR1C4	HGNC	Q96SD9_HUMAN	.	UPI000013D3B2	SNV	AKR1C4,5_prime_UTR_variant,,ENST00000380448,;AKR1C4,5_prime_UTR_variant,,ENST00000263126,;AKR1CL1,intron_variant,,ENST00000445191,;U8,upstream_gene_variant,,ENST00000516100,;AKR1C4,non_coding_transcript_exon_variant,,ENST00000469875,;	234	56	61	SUCCESS
ADAMTS14	140766	.	GRCh37	10	72520494	72520494	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	46	0	ENST00000373207.1:c.3557G>T	p.Gly1186Val	p.G1186V	ENST00000373207	NM_080722.3	1186	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7307.1	3566	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGGCTGC	NONE	.	.	.	.	.	ENSP00000362304	.	22/22	.	.	.	.	.	.	.	.	COSM3440139	22/22	PASS	ENST00000373208	Transcript	.	.	ENSG00000138316	14899	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.157)	.	deleterious_low_confidence(0.04)	1	ATS14_HUMAN	ADAMTS14	HGNC	.	.	UPI000013E57B	SNV	ADAMTS14,missense_variant,p.Gly1189Val,ENST00000373208,;ADAMTS14,missense_variant,p.Gly1186Val,ENST00000373207,;	3566	46	42	SUCCESS
CDH23	64072	.	GRCh37	10	73562794	73562794	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs745345746	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	50	0	ENST00000224721.6:c.7637A>G	p.Asn2546Ser	p.N2546S	ENST00000224721	NM_022124.5	2546	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS53540.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAATGGAG	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000381768	.	7/23	.	.	.	.	.	.	.	.	rs745345746	7/23	PASS	ENST00000398788	Transcript	1	.	ENSG00000107736	13733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	CAD23_HUMAN	CDH23	HGNC	.	.	UPI0000496839	SNV	CDH23,missense_variant,p.Asn301Ser,ENST00000398788,;CDH23,missense_variant,p.Asn2546Ser,ENST00000224721,;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	1219	50	63	SUCCESS
ANXA7	310	.	GRCh37	10	75147452	75147452	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750509037	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	18	95	0	ENST00000372919.4:c.694G>A	p.Gly232Ser	p.G232S	ENST00000372919	NM_004034.2	232	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS7326.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCCATAGG	NONE	.	.	hmmpanther:PTHR10502:SF31,hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874	.	.	ENSP00000362010	.	8/14	.	.	.	.	.	.	.	.	rs750509037	8/14	PASS	ENST00000372919	Transcript	.	.	ENSG00000138279	545	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	ANXA7_HUMAN	ANXA7	HGNC	B9ZVT2_HUMAN	.	UPI000013DB45	SNV	ANXA7,missense_variant,p.Gly232Ser,ENST00000372919,;ANXA7,missense_variant,p.Gly80Ser,ENST00000535178,;ANXA7,missense_variant,p.Gly210Ser,ENST00000372921,;RP11-537A6.9,downstream_gene_variant,,ENST00000427492,;ANXA7,non_coding_transcript_exon_variant,,ENST00000492380,;	751	95	103	SUCCESS
NXPE1	120400	.	GRCh37	11	114398621	114398621	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	85	0	ENST00000424269.1:c.836C>A	p.Ser279Tyr	p.S279Y	ENST00000424269		279	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS8372.1	410	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGACCTT	NONE	.	.	hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF4	.	.	ENSP00000251921	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000251921	Transcript	.	.	ENSG00000095110	28527	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.248)	.	tolerated(0.09)	.	NXPE1_HUMAN	NXPE1	HGNC	G3V1T0_HUMAN	.	UPI000013CD22	SNV	NXPE1,missense_variant,p.Ser279Tyr,ENST00000424269,;NXPE1,missense_variant,p.Ser137Tyr,ENST00000251921,;NXPE1,synonymous_variant,p.%3D,ENST00000536312,;NXPE1,splice_region_variant,,ENST00000536271,;NXPE1,downstream_gene_variant,,ENST00000534921,;NXPE1,downstream_gene_variant,,ENST00000539878,;snoU13,downstream_gene_variant,,ENST00000459372,;	827	85	81	SUCCESS
IL10RA	3587	.	GRCh37	11	117869720	117869720	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	52	0	ENST00000227752.3:c.1101C>T	p.Ser367=	p.S367=	ENST00000227752	NM_001558.3	367	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8388.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGCACAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	.	.	ENSP00000227752	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000227752	Transcript	.	.	ENSG00000110324	5964	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I10R1_HUMAN	IL10RA	HGNC	F5H5Y4_HUMAN	.	UPI000013C8BF	SNV	IL10RA,synonymous_variant,p.%3D,ENST00000227752,;IL10RA,synonymous_variant,p.%3D,ENST00000541785,;IL10RA,synonymous_variant,p.%3D,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,3_prime_UTR_variant,,ENST00000526544,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000525467,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,downstream_gene_variant,,ENST00000530178,;IL10RA,downstream_gene_variant,,ENST00000532009,;	1221	52	37	SUCCESS
PANX3	116337	.	GRCh37	11	124489603	124489603	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	20	117	0	ENST00000284288.2:c.951G>C	p.Lys317Asn	p.K317N	ENST00000284288	NM_052959.2	317	aaG/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS8447.1	951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAGATGCT	NONE	.	.	hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3,PROSITE_profiles:PS51013	.	.	ENSP00000284288	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284288	Transcript	.	.	ENSG00000154143	20573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	PANX3_HUMAN	PANX3	HGNC	.	.	UPI0000131264	SNV	PANX3,missense_variant,p.Lys317Asn,ENST00000284288,;TBRG1,upstream_gene_variant,,ENST00000531667,;TBRG1,upstream_gene_variant,,ENST00000375005,;TBRG1,upstream_gene_variant,,ENST00000441174,;TBRG1,upstream_gene_variant,,ENST00000529543,;TBRG1,upstream_gene_variant,,ENST00000284290,;TBRG1,upstream_gene_variant,,ENST00000452080,;TBRG1,upstream_gene_variant,,ENST00000530731,;TBRG1,upstream_gene_variant,,ENST00000473629,;	1018	117	116	SUCCESS
JAM3	83700	.	GRCh37	11	134014256	134014256	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	61	0	ENST00000299106.4:c.377T>C	p.Ile126Thr	p.I126T	ENST00000299106		126	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS8494.2	377	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATTGATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF5,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000299106	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000299106	Transcript	.	.	ENSG00000166086	15532	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.315)	.	deleterious(0.01)	.	JAM3_HUMAN	JAM3	HGNC	.	.	UPI0000034063	SNV	JAM3,missense_variant,p.Ile171Thr,ENST00000529443,;JAM3,missense_variant,p.Ile126Thr,ENST00000299106,;JAM3,missense_variant,p.Ile66Thr,ENST00000534549,;JAM3,intron_variant,,ENST00000441717,;JAM3,non_coding_transcript_exon_variant,,ENST00000524969,;JAM3,non_coding_transcript_exon_variant,,ENST00000532165,;JAM3,3_prime_UTR_variant,,ENST00000532252,;JAM3,non_coding_transcript_exon_variant,,ENST00000531302,;JAM3,upstream_gene_variant,,ENST00000533711,;	536	61	56	SUCCESS
OTOG	340990	.	GRCh37	11	17623774	17623774	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	32	0	ENST00000399391.2:c.3763T>A	p.Tyr1255Asn	p.Y1255N	ENST00000399391	NM_001277269.1	1255	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS59225.1	3763	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTATCAG	NONE	.	.	hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Superfamily_domains:0050434	.	.	ENSP00000382323	.	31/55	.	.	.	.	.	.	.	.	.	31/55	PASS	ENST00000399391	Transcript	.	.	ENSG00000188162	8516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.974)	.	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,missense_variant,p.Tyr1182Asn,ENST00000399397,;OTOG,missense_variant,p.Tyr261Asn,ENST00000342528,;OTOG,missense_variant,p.Tyr1255Asn,ENST00000399391,;	3763	32	36	SUCCESS
TRPM5	29850	.	GRCh37	11	2429133	2429133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	13	88	0	ENST00000155858.6:c.2792T>A	p.Val931Glu	p.V931E	ENST00000155858	NM_014555.3	931	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS31340.1	2792	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCACACGG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5	.	.	ENSP00000155858	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000155858	Transcript	.	.	ENSG00000070985	14323	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.809)	.	deleterious(0.02)	.	TRPM5_HUMAN	TRPM5	HGNC	.	.	UPI000003B069	SNV	TRPM5,missense_variant,p.Val931Glu,ENST00000533060,;TRPM5,missense_variant,p.Val925Glu,ENST00000533881,;TRPM5,missense_variant,p.Val931Glu,ENST00000528453,;TRPM5,missense_variant,p.Val933Glu,ENST00000452833,;TRPM5,missense_variant,p.Val931Glu,ENST00000155858,;TSSC4,downstream_gene_variant,,ENST00000451491,;TSSC4,downstream_gene_variant,,ENST00000496468,;TSSC4,downstream_gene_variant,,ENST00000437110,;TSSC4,downstream_gene_variant,,ENST00000380992,;TSSC4,downstream_gene_variant,,ENST00000435795,;TSSC4,downstream_gene_variant,,ENST00000485682,;TSSC4,downstream_gene_variant,,ENST00000440813,;TSSC4,downstream_gene_variant,,ENST00000380996,;TSSC4,downstream_gene_variant,,ENST00000333256,;AC124057.5,non_coding_transcript_exon_variant,,ENST00000433035,;TSSC4,downstream_gene_variant,,ENST00000467308,;	2801	88	101	SUCCESS
OR51A2	401667	.	GRCh37	11	4976204	4976204	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs752232056	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	8	282	0	ENST00000380371.1:c.740G>T	p.Cys247Phe	p.C247F	ENST00000380371	NM_001004748.1	247	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS31368.1	740	MUTECT|MUSE	.	CTGCACAGATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000369729	.	1/1	.	.	.	.	.	.	.	.	rs752232056	1/1	PASS	ENST00000380371	Transcript	.	.	ENSG00000205496	14764	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.429)	.	tolerated(0.06)	.	O51A2_HUMAN	OR51A2	HGNC	.	.	UPI0000041B7B	SNV	OR51A2,missense_variant,p.Cys247Phe,ENST00000380371,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	740	282	208	SUCCESS
FAM181B	220382	.	GRCh37	11	82444433	82444433	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	10	0	ENST00000329203.3:c.339C>A	p.Pro113=	p.P113=	ENST00000329203	NM_175885.3	113	ccC/ccA	0	-:0.0025	.	.	.	.	T	P	protein_coding	YES	CCDS31648.1	339	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15238	.	-:0.0052	ENSP00000365295	.	1/1	.	.	.	.	.	.	.	.	TMP_ESP_11_82444433_82444433	1/1	PASS	ENST00000329203	Transcript	.	.	ENSG00000182103	28512	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F181B_HUMAN	FAM181B	HGNC	.	.	UPI000015FCC7	SNV	FAM181B,synonymous_variant,p.%3D,ENST00000329203,;	474	10	15	SUCCESS
GRM5	2915	.	GRCh37	11	88241917	88241917	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	24	0	ENST00000305447.4:c.3482T>A	p.Val1161Glu	p.V1161E	ENST00000305447	NM_001143831.2	1161	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS44694.1	3482	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCACCAGC	NONE	.	.	.	.	.	ENSP00000402912	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.06)	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,missense_variant,p.Val1161Glu,ENST00000305447,;GRM5,missense_variant,p.Val1129Glu,ENST00000305432,;GRM5,missense_variant,p.Val1161Glu,ENST00000418177,;GRM5,missense_variant,p.Val1129Glu,ENST00000455756,;GRM5,intron_variant,,ENST00000393297,;GRM5-AS1,non_coding_transcript_exon_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;	3850	24	53	SUCCESS
FAT3	120114	.	GRCh37	11	92495075	92495075	+	synonymous_variant	Silent	SNP	G	G	T	rs868744035	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	57	0	ENST00000298047.6:c.3723G>T	p.Val1241=	p.V1241=	ENST00000298047		1241	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	.	3723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGGTTCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	4/27	.	.	.	.	.	.	.	.	.	4/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,synonymous_variant,p.%3D,ENST00000298047,;FAT3,synonymous_variant,p.%3D,ENST00000409404,;FAT3,synonymous_variant,p.%3D,ENST00000525166,;RP11-203F8.1,intron_variant,,ENST00000529884,;	3740	57	73	SUCCESS
CEP57	9702	.	GRCh37	11	95546100	95546100	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	16	103	0	ENST00000325542.5:c.207A>G	p.Ile69Met	p.I69M	ENST00000325542	NM_001243776.1	69	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS8304.1	207	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATATTTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF11,Pfam_domain:PF14073	.	.	ENSP00000317902	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000325542	Transcript	.	.	ENSG00000166037	30794	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	CEP57_HUMAN	CEP57	HGNC	F5H1B0_HUMAN,F5GYW0_HUMAN	.	UPI0000070D0B	SNV	CEP57,missense_variant,p.Ile60Met,ENST00000544522,;CEP57,missense_variant,p.Ile42Met,ENST00000541365,;CEP57,missense_variant,p.Ile69Met,ENST00000538658,;CEP57,missense_variant,p.Ile60Met,ENST00000541150,;CEP57,missense_variant,p.Ile69Met,ENST00000325486,;CEP57,missense_variant,p.Ile69Met,ENST00000325542,;CEP57,missense_variant,p.Ile42Met,ENST00000537677,;CEP57,upstream_gene_variant,,ENST00000537093,;CEP57,upstream_gene_variant,,ENST00000535224,;CEP57,non_coding_transcript_exon_variant,,ENST00000536587,;CEP57,missense_variant,p.Tyr17Cys,ENST00000535497,;CEP57,missense_variant,p.Ile79Val,ENST00000539855,;CEP57,3_prime_UTR_variant,,ENST00000538095,;CEP57,intron_variant,,ENST00000540830,;CEP57,upstream_gene_variant,,ENST00000541768,;	445	103	116	SUCCESS
CNTN5	53942	.	GRCh37	11	99715928	99715928	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	43	0	ENST00000524871.1:c.511T>C	p.Tyr171His	p.Y171H	ENST00000524871	NM_014361.3	171	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS53696.1	511	MUTECT|MUSE	.	GTCATTATCAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Tyr171His,ENST00000279463,;CNTN5,missense_variant,p.Tyr171His,ENST00000524871,;CNTN5,missense_variant,p.Tyr171His,ENST00000528682,;CNTN5,missense_variant,p.Tyr171His,ENST00000527185,;CNTN5,missense_variant,p.Tyr97His,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	801	43	46	SUCCESS
ABCC9	10060	.	GRCh37	12	21995268	21995268	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	12	47	0	ENST00000261201.4:c.3453A>C	p.Lys1151Asn	p.K1151N	ENST00000261201	NM_005691.2	1151	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS8693.1	3453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATTTCTG	BUFFER|p.R1154W|c.3460C>T|3,BUFFER|p.R1154W|c.3460C>T|4	.	.	Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50929	.	.	ENSP00000261200	.	27/38	.	.	.	.	.	.	.	.	.	27/38	PASS	ENST00000261200	Transcript	.	.	ENSG00000069431	60	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.406)	.	deleterious(0.01)	.	ABCC9_HUMAN	ABCC9	HGNC	Q8N9N1_HUMAN	.	UPI000013D13F	SNV	ABCC9,missense_variant,p.Lys1115Asn,ENST00000345162,;ABCC9,missense_variant,p.Lys1151Asn,ENST00000261201,;ABCC9,missense_variant,p.Lys778Asn,ENST00000544039,;ABCC9,missense_variant,p.Lys1151Asn,ENST00000261200,;RP11-729I10.2,intron_variant,,ENST00000539874,;	3453	47	53	SUCCESS
CACNA1C	775	.	GRCh37	12	2794935	2794935	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	21	117	0	ENST00000347598.4:c.5751G>A	p.Leu1917=	p.L1917=	ENST00000347598	NM_199460.2	1917	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44788.1	5751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTGACGCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188	.	.	ENSP00000266376	.	46/49	.	.	.	.	.	.	.	.	.	46/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,synonymous_variant,p.%3D,ENST00000399644,;CACNA1C,synonymous_variant,p.%3D,ENST00000399595,;CACNA1C,synonymous_variant,p.%3D,ENST00000406454,;CACNA1C,synonymous_variant,p.%3D,ENST00000399617,;CACNA1C,synonymous_variant,p.%3D,ENST00000347598,;CACNA1C,synonymous_variant,p.%3D,ENST00000402845,;CACNA1C,synonymous_variant,p.%3D,ENST00000327702,;CACNA1C,synonymous_variant,p.%3D,ENST00000399634,;CACNA1C,synonymous_variant,p.%3D,ENST00000399641,;CACNA1C,synonymous_variant,p.%3D,ENST00000399603,;CACNA1C,synonymous_variant,p.%3D,ENST00000399629,;CACNA1C,synonymous_variant,p.%3D,ENST00000399601,;CACNA1C,synonymous_variant,p.%3D,ENST00000399597,;CACNA1C,synonymous_variant,p.%3D,ENST00000399655,;CACNA1C,synonymous_variant,p.%3D,ENST00000399606,;CACNA1C,synonymous_variant,p.%3D,ENST00000399637,;CACNA1C,synonymous_variant,p.%3D,ENST00000335762,;CACNA1C,synonymous_variant,p.%3D,ENST00000399591,;CACNA1C,synonymous_variant,p.%3D,ENST00000399621,;CACNA1C,synonymous_variant,p.%3D,ENST00000399638,;CACNA1C,synonymous_variant,p.%3D,ENST00000344100,;CACNA1C,synonymous_variant,p.%3D,ENST00000399649,;CACNA1C-AS1,intron_variant,,ENST00000501371,;CACNA1C-AS1,downstream_gene_variant,,ENST00000544517,;CACNA1C-AS1,downstream_gene_variant,,ENST00000541673,;	5751	117	114	SUCCESS
SYT10	341359	.	GRCh37	12	33592330	33592330	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs561584640	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	45	0	ENST00000228567.3:c.128del	p.Gly43AlafsTer15	p.G43Afs*15	ENST00000228567	NM_198992.3	43	gGc/gc	0	.	G:0	.	G:0	.	-	G/X	protein_coding	YES	CCDS8732.1	128	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCTGCCCCTG	NONE	by1000G	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46	G:0.001	.	ENSP00000228567	G:0	1/7	.	.	.	.	.	.	.	.	rs561584640	1/7	PASS	ENST00000228567	Transcript	.	G:0.0002	ENSG00000110975	19266	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	SYT10_HUMAN	SYT10	HGNC	F5H2A8_HUMAN	.	UPI0000052B30	deletion	SYT10,frameshift_variant,p.Gly43AlafsTer15,ENST00000228567,;SYT10,5_prime_UTR_variant,,ENST00000535526,;SYT10,frameshift_variant,p.Gly43AlafsTer15,ENST00000539102,;	425	45	59	SUCCESS
KCNA6	3742	.	GRCh37	12	4920262	4920262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	60	0	ENST00000280684.3:c.1055T>A	p.Ile352Asn	p.I352N	ENST00000280684		352	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS8534.1	1055	MUTECT|MUSE	.	CCGCATCTTCA	NONE	.	.	Prints_domain:PR00169,Prints_domain:PR01491,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Low_complexity_(Seg):seg	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,missense_variant,p.Ile352Asn,ENST00000433855,;KCNA6,missense_variant,p.Ile352Asn,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	1921	60	55	SUCCESS
STAT2	6773	.	GRCh37	12	56742763	56742763	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	26	0	ENST00000314128.4:c.1521T>C	p.Tyr507=	p.Y507=	ENST00000314128		507	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS8917.1	1521	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACATAGGA	NONE	.	.	hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41,Pfam_domain:PF02864,Gene3D:1.10.238.10,Superfamily_domains:SSF49417	.	.	ENSP00000315768	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000314128	Transcript	.	.	ENSG00000170581	11363	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAT2_HUMAN	STAT2	HGNC	R9QG81_HUMAN,R9QE65_HUMAN,Q6LD48_HUMAN	.	UPI00000473FC	SNV	STAT2,synonymous_variant,p.%3D,ENST00000557235,;STAT2,synonymous_variant,p.%3D,ENST00000314128,;STAT2,downstream_gene_variant,,ENST00000418572,;RNU7-40P,downstream_gene_variant,,ENST00000516397,;STAT2,non_coding_transcript_exon_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557156,;STAT2,downstream_gene_variant,,ENST00000557252,;STAT2,downstream_gene_variant,,ENST00000555519,;STAT2,downstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557199,;STAT2,upstream_gene_variant,,ENST00000555488,;	1545	26	41	SUCCESS
MDM1	56890	.	GRCh37	12	68719226	68719226	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs374381882	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	14	112	0	ENST00000303145.7:c.628A>G	p.Asn210Asp	p.N210D	ENST00000303145	NM_017440.4	210	Aat/Gat	0	C:0.0002	.	.	.	.	C	N/D	protein_coding	YES	CCDS8983.1	628	RADIA|MUTECT|MUSE|VARSCANS	.	CTGATTGGCTG	NONE	byFrequency|byCluster	.	Pfam_domain:PF15501,hmmpanther:PTHR32078	.	C:0	ENSP00000302537	.	4/14	.	.	.	.	.	.	.	.	rs374381882	4/14	PASS	ENST00000303145	Transcript	.	.	ENSG00000111554	29917	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.36)	.	MDM1_HUMAN	MDM1	HGNC	F5H804_HUMAN	.	UPI00001FC70C	SNV	MDM1,missense_variant,p.Asn205Asp,ENST00000541686,;MDM1,missense_variant,p.Asn210Asp,ENST00000303145,;MDM1,3_prime_UTR_variant,,ENST00000393543,;MDM1,3_prime_UTR_variant,,ENST00000430606,;MDM1,5_prime_UTR_variant,,ENST00000540418,;MDM1,intron_variant,,ENST00000411698,;MDM1,non_coding_transcript_exon_variant,,ENST00000545724,;MDM1,non_coding_transcript_exon_variant,,ENST00000540476,;MDM1,upstream_gene_variant,,ENST00000536997,;MDM1,upstream_gene_variant,,ENST00000538454,;	715	112	119	SUCCESS
SACS	26278	.	GRCh37	13	23911712	23911712	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	53	0	ENST00000382292.3:c.6303C>A	p.Ser2101=	p.S2101=	ENST00000382292		2101	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9300.2	6303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGGAACA	NONE	.	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,synonymous_variant,p.%3D,ENST00000382292,;SACS,synonymous_variant,p.%3D,ENST00000402364,;SACS,synonymous_variant,p.%3D,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	6892	53	59	SUCCESS
PABPC3	5042	.	GRCh37	13	25671982	25671982	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757831885	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	71	0	ENST00000281589.3:c.1646C>A	p.Pro549His	p.P549H	ENST00000281589	NM_030979.2	549	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS9311.1	1646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCCTCCTC	NONE	.	.	Superfamily_domains:SSF63570,SMART_domains:SM00517,Pfam_domain:PF00658,Gene3D:1.10.1900.10,TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239,PROSITE_profiles:PS51309	.	.	ENSP00000281589	.	1/1	.	.	.	.	.	.	.	.	rs757831885	1/1	PASS	ENST00000281589	Transcript	.	.	ENSG00000151846	8556	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0.04)	.	PABP3_HUMAN	PABPC3	HGNC	Q5VX58_HUMAN,Q2VIP3_HUMAN	.	UPI00001311AB	SNV	PABPC3,missense_variant,p.Pro549His,ENST00000281589,;	1683	71	65	SUCCESS
CCDC122	160857	.	GRCh37	13	44433943	44433943	+	synonymous_variant	Silent	SNP	C	C	T	rs772088506	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	19	136	0	ENST00000444614.3:c.420G>A	p.Gly140=	p.G140=	ENST00000444614	NM_144974.3	140	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9390.2	420	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCCCCAA	NONE	.	.	hmmpanther:PTHR18937:SF165,hmmpanther:PTHR18937	.	.	ENSP00000407763	.	5/7	.	.	.	.	.	.	.	.	rs772088506	5/7	PASS	ENST00000444614	Transcript	.	.	ENSG00000151773	26478	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CC122_HUMAN	CCDC122	HGNC	.	.	UPI0000470101	SNV	CCDC122,synonymous_variant,p.%3D,ENST00000444614,;CCDC122,synonymous_variant,p.%3D,ENST00000281508,;CCDC122,non_coding_transcript_exon_variant,,ENST00000470137,;CCDC122,non_coding_transcript_exon_variant,,ENST00000476570,;	679	137	153	SUCCESS
MYCBP2	23077	.	GRCh37	13	77750664	77750664	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	84	0	ENST00000357337.6:c.5326G>T	p.Glu1776Ter	p.E1776*	ENST00000357337		1776	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	.	5326	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCAGCTA	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846,Pfam_domain:PF08005	.	.	ENSP00000444596	.	36/83	.	.	.	.	.	.	.	.	.	36/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,stop_gained,p.Glu1776Ter,ENST00000357337,;MYCBP2,stop_gained,p.Glu1776Ter,ENST00000544440,;MYCBP2,stop_gained,p.Glu1814Ter,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;	5344	84	87	SUCCESS
NYNRIN	57523	.	GRCh37	14	24878595	24878595	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	48	0	ENST00000382554.3:c.1595A>G	p.Gln532Arg	p.Q532R	ENST00000382554	NM_025081.2	532	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS45090.1	1595	RADIA|MUTECT|MUSE|VARSCANS	.	AGATCAGTCAG	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	deleterious_low_confidence(0.01)	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,missense_variant,p.Gln532Arg,ENST00000382554,;NYNRIN,upstream_gene_variant,,ENST00000554505,;	1913	48	51	SUCCESS
NOVA1	4857	.	GRCh37	14	26949245	26949245	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	96	0	ENST00000539517.2:c.385A>G	p.Lys129Glu	p.K129E	ENST00000539517	NM_002515.2	129	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32061.1	385	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTTGGCCA	NONE	.	.	hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288	.	.	ENSP00000438875	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.01)	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,missense_variant,p.Lys7Glu,ENST00000549146,;NOVA1,missense_variant,p.Lys7Glu,ENST00000347476,;NOVA1,missense_variant,p.Lys129Glu,ENST00000465357,;NOVA1,missense_variant,p.Lys129Glu,ENST00000547619,;NOVA1,missense_variant,p.Lys92Glu,ENST00000549571,;NOVA1,missense_variant,p.Lys129Glu,ENST00000344429,;NOVA1,missense_variant,p.Lys129Glu,ENST00000539517,;NOVA1,missense_variant,p.Lys129Glu,ENST00000574031,;NOVA1,missense_variant,p.Lys7Glu,ENST00000267422,;NOVA1,missense_variant,p.Lys88Glu,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;	703	96	77	SUCCESS
NEMF	9147	.	GRCh37	14	50251848	50251848	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	20	78	0	ENST00000298310.5:c.3035A>C	p.Lys1012Thr	p.K1012T	ENST00000298310		1012	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS9694.1	3035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTTTATAT	NONE	.	.	hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1,Pfam_domain:PF11923	.	.	ENSP00000298310	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000298310	Transcript	.	.	ENSG00000165525	10663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	NEMF_HUMAN	NEMF	HGNC	.	.	UPI0000246D16	SNV	NEMF,missense_variant,p.Lys970Thr,ENST00000555970,;NEMF,missense_variant,p.Lys212Thr,ENST00000382135,;NEMF,missense_variant,p.Lys1012Thr,ENST00000298310,;NEMF,missense_variant,p.Lys991Thr,ENST00000546046,;NEMF,missense_variant,p.Lys970Thr,ENST00000545773,;KLHDC2,downstream_gene_variant,,ENST00000298307,;KLHDC2,downstream_gene_variant,,ENST00000554589,;KLHDC2,downstream_gene_variant,,ENST00000557247,;NEMF,non_coding_transcript_exon_variant,,ENST00000554275,;NEMF,non_coding_transcript_exon_variant,,ENST00000556691,;NEMF,non_coding_transcript_exon_variant,,ENST00000556925,;NEMF,downstream_gene_variant,,ENST00000555863,;NEMF,non_coding_transcript_exon_variant,,ENST00000557193,;NEMF,non_coding_transcript_exon_variant,,ENST00000556074,;KLHDC2,downstream_gene_variant,,ENST00000554115,;KLHDC2,downstream_gene_variant,,ENST00000553579,;KLHDC2,downstream_gene_variant,,ENST00000556559,;KLHDC2,downstream_gene_variant,,ENST00000555443,;KLHDC2,downstream_gene_variant,,ENST00000555739,;	3485	78	82	SUCCESS
SYNE2	23224	.	GRCh37	14	64628942	64628942	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	53	0	ENST00000344113.4:c.16247T>C	p.Met5416Thr	p.M5416T	ENST00000344113	NM_015180.4	5416	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS9761.2	16247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATGTCTG	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915	.	.	ENSP00000350719	.	88/116	.	.	.	.	.	.	.	.	.	88/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Met5333Thr,ENST00000554584,;SYNE2,missense_variant,p.Met1801Thr,ENST00000394768,;SYNE2,missense_variant,p.Met5416Thr,ENST00000344113,;SYNE2,missense_variant,p.Met1801Thr,ENST00000357395,;SYNE2,missense_variant,p.Met5416Thr,ENST00000358025,;SYNE2,missense_variant,p.Met2050Thr,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,upstream_gene_variant,,ENST00000556342,;SYNE2,start_lost,p.Met1?,ENST00000553289,;SYNE2,missense_variant,p.Met378Thr,ENST00000555612,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557024,;	16477	53	49	SUCCESS
PCNX	0	.	GRCh37	14	71444965	71444965	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	52	0	ENST00000304743.2:c.1911G>A	p.Glu637=	p.E637=	ENST00000304743	NM_014982.2	637	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS9806.1	1911	MUTECT|MUSE|VARSCANS	.	CCTGAGGGCAG	NONE	.	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,synonymous_variant,p.%3D,ENST00000238570,;PCNX,synonymous_variant,p.%3D,ENST00000439984,;PCNX,synonymous_variant,p.%3D,ENST00000304743,;PCNX,downstream_gene_variant,,ENST00000553428,;PCNX,downstream_gene_variant,,ENST00000553272,;PCNX,non_coding_transcript_exon_variant,,ENST00000554879,;PCNX,upstream_gene_variant,,ENST00000556846,;	2357	52	40	SUCCESS
PSEN1	5663	.	GRCh37	14	73653618	73653618	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs944088683	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	24	144	0	ENST00000324501.5:c.538A>G	p.Ile180Val	p.I180V	ENST00000324501	NM_000021.3	180	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9812.1	538	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCATTTAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,SMART_domains:SM00730,Pfam_domain:PF01080,hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF7	.	.	ENSP00000326366	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000324501	Transcript	.	.	ENSG00000080815	9508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.01)	.	PSN1_HUMAN	PSEN1	HGNC	G3V4P4_HUMAN,G3V4M0_HUMAN,G3V2G7_HUMAN,E7ES96_HUMAN	.	UPI000003F05F	SNV	PSEN1,missense_variant,p.Ile176Val,ENST00000394164,;PSEN1,missense_variant,p.Ile88Val,ENST00000406768,;PSEN1,missense_variant,p.Ile180Val,ENST00000344094,;PSEN1,missense_variant,p.Ile180Val,ENST00000261970,;PSEN1,missense_variant,p.Ile180Val,ENST00000557511,;PSEN1,missense_variant,p.Ile180Val,ENST00000324501,;PSEN1,missense_variant,p.Ile176Val,ENST00000357710,;PSEN1,missense_variant,p.Ile180Val,ENST00000553855,;PSEN1,missense_variant,p.Ile176Val,ENST00000555386,;RP4-687K1.2,upstream_gene_variant,,ENST00000554078,;	810	144	132	SUCCESS
NRXN3	9369	.	GRCh37	14	79933569	79933569	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373319691	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	64	0	ENST00000557594.1:c.253G>A	p.Ala85Thr	p.A85T	ENST00000557594		85	Gct/Act	0	C:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS9870.1	2149	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCTACG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	C:0.0002	ENSP00000451648	.	13/17	.	.	.	.	.	.	.	.	rs373319691	13/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(1)	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,missense_variant,p.Ala85Thr,ENST00000557594,;NRXN3,missense_variant,p.Ala85Thr,ENST00000428277,;NRXN3,missense_variant,p.Ala717Thr,ENST00000554719,;NRXN3,missense_variant,p.Ala85Thr,ENST00000281127,;NRXN3,missense_variant,p.Ala717Thr,ENST00000335750,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556003,;NRXN3,non_coding_transcript_exon_variant,,ENST00000555073,;NRXN3,non_coding_transcript_exon_variant,,ENST00000553803,;NRXN3,missense_variant,p.Ala85Thr,ENST00000555387,;NRXN3,missense_variant,p.Ala1079Thr,ENST00000554738,;	2640	64	75	SUCCESS
UNC79	57578	.	GRCh37	14	93963599	93963599	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	30	0	ENST00000393151.2:c.865G>T	p.Ala289Ser	p.A289S	ENST00000393151		289	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS9911.2	334	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCAATA	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696,Pfam_domain:PF14776	.	.	ENSP00000256339	.	7/50	.	.	.	.	.	.	.	.	.	7/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.47)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Ala289Ser,ENST00000393151,;UNC79,missense_variant,p.Ala112Ser,ENST00000256339,;UNC79,missense_variant,p.Ala289Ser,ENST00000553484,;UNC79,missense_variant,p.Ala289Ser,ENST00000555664,;	989	30	24	SUCCESS
UNC79	57578	.	GRCh37	14	94120287	94120287	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	14	86	1	ENST00000393151.2:c.6315T>C		p.X2105_splice	ENST00000393151		2105	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS9911.2	5784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGATGGGAC	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696,Superfamily_domains:SSF48371	.	.	ENSP00000256339	.	38/50	.	.	.	.	.	.	.	.	.	38/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,synonymous_variant,p.%3D,ENST00000393151,;UNC79,synonymous_variant,p.%3D,ENST00000256339,;UNC79,synonymous_variant,p.%3D,ENST00000553484,;UNC79,synonymous_variant,p.%3D,ENST00000555664,;	6439	87	83	SUCCESS
CKMT1B	1159	.	GRCh37	15	43888719	43888719	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1478321371	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	22	145	0	ENST00000300283.6:c.866G>A	p.Gly289Asp	p.G289D	ENST00000300283	NM_020990.3	289	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS10097.1	866	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGGCCTCA	NONE	.	.	PROSITE_profiles:PS51510,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931	.	.	ENSP00000300283	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000300283	Transcript	.	.	ENSG00000237289	1995	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	KCRU_HUMAN	CKMT1B	HGNC	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN	.	UPI000012DCCE	SNV	CKMT1B,missense_variant,p.Gly289Asp,ENST00000300283,;CKMT1B,missense_variant,p.Gly289Asp,ENST00000441322,;CKMT1B,missense_variant,p.Gly152Asp,ENST00000413657,;CKMT1B,missense_variant,p.Gly248Asp,ENST00000450086,;STRC,downstream_gene_variant,,ENST00000450892,;CKMT1B,downstream_gene_variant,,ENST00000417289,;CKMT1B,downstream_gene_variant,,ENST00000453782,;CKMT1B,downstream_gene_variant,,ENST00000437924,;CKMT1B,downstream_gene_variant,,ENST00000453733,;STRC,downstream_gene_variant,,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000449946,;CKMT1B,downstream_gene_variant,,ENST00000498538,;CKMT1B,downstream_gene_variant,,ENST00000495545,;CKMT1B,upstream_gene_variant,,ENST00000411560,;CKMT1B,downstream_gene_variant,,ENST00000481666,;CKMT1B,missense_variant,p.Gly289Asp,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000460952,;STRC,downstream_gene_variant,,ENST00000471703,;STRC,downstream_gene_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000475589,;STRC,downstream_gene_variant,,ENST00000493750,;STRC,downstream_gene_variant,,ENST00000440125,;STRC,downstream_gene_variant,,ENST00000428650,;STRC,downstream_gene_variant,,ENST00000485556,;CKMT1B,downstream_gene_variant,,ENST00000428981,;	1258	145	131	SUCCESS
SEMA6D	80031	.	GRCh37	15	48058317	48058317	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	107	0	ENST00000316364.5:c.1584T>G	p.Ser528=	p.S528=	ENST00000316364	NM_153618.1	528	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS32225.1	1584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCTCGTGA	NONE	.	.	Superfamily_domains:SSF103575,SMART_domains:SM00423,Pfam_domain:PF01437,Gene3D:3.30.1680.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,synonymous_variant,p.%3D,ENST00000389432,;SEMA6D,synonymous_variant,p.%3D,ENST00000537942,;SEMA6D,synonymous_variant,p.%3D,ENST00000358066,;SEMA6D,synonymous_variant,p.%3D,ENST00000354744,;SEMA6D,synonymous_variant,p.%3D,ENST00000389428,;SEMA6D,synonymous_variant,p.%3D,ENST00000355997,;SEMA6D,synonymous_variant,p.%3D,ENST00000536845,;SEMA6D,synonymous_variant,p.%3D,ENST00000389433,;SEMA6D,synonymous_variant,p.%3D,ENST00000558014,;SEMA6D,synonymous_variant,p.%3D,ENST00000558816,;SEMA6D,synonymous_variant,p.%3D,ENST00000316364,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000389425,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,;	2023	107	100	SUCCESS
DIS3L	115752	.	GRCh37	15	66615033	66615052	+	frameshift_variant	Frame_Shift_Del	DEL	GATGCCAGTAAACACACCAG	GATGCCAGTAAACACACCAG	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	GATGCCAGTAAACACACCAG	GATGCCAGTAAACACACCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	91	0	ENST00000319212.4:c.1335_1354del	p.Met446LysfsTer8	p.M446Kfs*8	ENST00000319212	NM_001143688.1	445	gaGATGCCAGTAAACACACCAGaa/gaaa	0	.	.	.	.	.	-	EMPVNTPE/EX	protein_coding	YES	CCDS45286.1	1335-1354	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGTGAGATGCCAGTAAACACACCAGAAAGT	NONE	.	.	hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30,Superfamily_domains:SSF50249	.	.	ENSP00000321711	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000319212	Transcript	.	.	ENSG00000166938	28698	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DI3L1_HUMAN	DIS3L	HGNC	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN	.	UPI000162779D	deletion	DIS3L,frameshift_variant,p.Met446LysfsTer8,ENST00000319212,;DIS3L,frameshift_variant,p.Met363LysfsTer8,ENST00000319194,;DIS3L,3_prime_UTR_variant,,ENST00000441424,;RP11-352G18.2,intron_variant,,ENST00000565993,;DIS3L,3_prime_UTR_variant,,ENST00000530537,;DIS3L,3_prime_UTR_variant,,ENST00000524795,;DIS3L,non_coding_transcript_exon_variant,,ENST00000565281,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564909,;	1385-1404	91	107	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79585934	79585934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	58	0	ENST00000421388.2:c.308C>A	p.Ser103Tyr	p.S103Y	ENST00000421388	NM_001146341.1	103	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS53965.1	308	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCCTTAT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24157,hmmpanther:PTHR24157:SF2,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.916)	.	deleterious(0)	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,missense_variant,p.Ser103Tyr,ENST00000421388,;ANKRD34C,missense_variant,p.Ser103Tyr,ENST00000558647,;	777	58	56	SUCCESS
SEMA4B	10509	.	GRCh37	15	90767099	90767107	+	inframe_deletion	In_Frame_Del	DEL	TCTGTGTCT	TCTGTGTCT	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	TCTGTGTCT	TCTGTGTCT	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	50	0	ENST00000411539.2:c.1075_1083del	p.Cys359_Phe361del	p.C359_F361del	ENST00000411539	NM_198925.2	358	gTCTGTGTCTtc/gtc	0	.	.	.	.	.	-	VCVF/V	protein_coding	YES	CCDS45347.1	1073-1081	VARSCANI*|PINDEL	.	CTGCCGTCTGTGTCTTCACA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF14,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000394720	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000411539	Transcript	.	.	ENSG00000185033	10730	2	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SEMA4B	HGNC	Q4VBY2_HUMAN,J3KNP4_HUMAN,H0YMR1_HUMAN,H0YMD6_HUMAN,H0YLN3_HUMAN	.	UPI0000197391	deletion	SEMA4B,inframe_deletion,p.Cys354_Phe356del,ENST00000379122,;SEMA4B,inframe_deletion,p.Cys78_Phe80del,ENST00000559074,;SEMA4B,inframe_deletion,p.Cys359_Phe361del,ENST00000411539,;SEMA4B,inframe_deletion,p.Cys359_Phe361del,ENST00000332496,;SEMA4B,upstream_gene_variant,,ENST00000559247,;SEMA4B,downstream_gene_variant,,ENST00000558051,;SEMA4B,downstream_gene_variant,,ENST00000561085,;SEMA4B,upstream_gene_variant,,ENST00000559983,;SEMA4B,3_prime_UTR_variant,,ENST00000560089,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000558848,;SEMA4B,downstream_gene_variant,,ENST00000559300,;SEMA4B,upstream_gene_variant,,ENST00000560993,;SEMA4B,upstream_gene_variant,,ENST00000561252,;SEMA4B,downstream_gene_variant,,ENST00000558975,;SEMA4B,upstream_gene_variant,,ENST00000561321,;	1333-1341	50	52	SUCCESS
C16orf82	162083	.	GRCh37	16	27079776	27079776	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	46	0	ENST00000505035.1:n.1749A>G		p.*583*	ENST00000505035				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCATCATT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000505035	Transcript	.	.	ENSG00000234186	30755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C16orf82	HGNC	.	.	.	SNV	C16orf82,non_coding_transcript_exon_variant,,ENST00000505035,;C16orf82,non_coding_transcript_exon_variant,,ENST00000418886,;RP11-673P17.2,upstream_gene_variant,,ENST00000565783,;	1749	46	54	SUCCESS
PRSS36	146547	.	GRCh37	16	31150725	31150725	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	97	0	ENST00000268281.4:c.2302C>G	p.Pro768Ala	p.P768A	ENST00000268281	NM_173502.4	768	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS32436.1	2302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGTGCTG	NONE	.	.	Superfamily_domains:SSF50494,PIRSF_domain:PIRSF037933,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240	.	.	ENSP00000268281	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000268281	Transcript	.	.	ENSG00000178226	26906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.4)	.	tolerated(0.58)	.	POLS2_HUMAN	PRSS36	HGNC	B4DNP1_HUMAN	.	UPI00001FFF6A	SNV	PRSS36,missense_variant,p.Pro665Ala,ENST00000418068,;PRSS36,missense_variant,p.Pro768Ala,ENST00000268281,;PRSS36,missense_variant,p.Pro763Ala,ENST00000569305,;PRSS8,upstream_gene_variant,,ENST00000568261,;PRSS8,upstream_gene_variant,,ENST00000567797,;PRSS8,upstream_gene_variant,,ENST00000317508,;PRSS8,upstream_gene_variant,,ENST00000567531,;PRSS36,3_prime_UTR_variant,,ENST00000571878,;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,downstream_gene_variant,,ENST00000563693,;PRSS8,upstream_gene_variant,,ENST00000567833,;PRSS8,upstream_gene_variant,,ENST00000564025,;	2361	97	77	SUCCESS
SHCBP1	79801	.	GRCh37	16	46617445	46617445	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	264	32	315	0	ENST00000303383.3:c.1676C>G	p.Ala559Gly	p.A559G	ENST00000303383	NM_024745.4	559	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS10720.1	1676	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGCATTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF6	.	.	ENSP00000306473	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000303383	Transcript	.	.	ENSG00000171241	29547	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.17)	.	SHCBP_HUMAN	SHCBP1	HGNC	.	.	UPI000013E898	SNV	SHCBP1,missense_variant,p.Ala559Gly,ENST00000303383,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000567698,;	1943	315	296	SUCCESS
WASIR2	100132169	.	GRCh37	16	74256	74256	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	10	107	0	ENST00000329244.5:n.213G>A		p.*71*	ENST00000329244				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGGAGGG	NONE	.	4808	.	.	.	ENSP00000317542	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326592	Transcript	.	.	ENSG00000234769	14126	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WASH4_HUMAN	WASH4P	HGNC	H3BUR0_HUMAN	.	UPI000066D93A	SNV	WASH4P,upstream_gene_variant,,ENST00000326592,;WASIR2,non_coding_transcript_exon_variant,,ENST00000329244,;WASIR2,non_coding_transcript_exon_variant,,ENST00000527434,;Z84812.4,intron_variant,,ENST00000568710,;WASH4P,upstream_gene_variant,,ENST00000462860,;WASH4P,upstream_gene_variant,,ENST00000495251,;	.	107	89	SUCCESS
TNS4	84951	.	GRCh37	17	38638655	38638655	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	28	0	ENST00000254051.6:c.1515T>C	p.Asn505=	p.N505=	ENST00000254051	NM_032865.5	505	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS11368.1	1515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCATTGCT	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF20,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550	.	.	ENSP00000254051	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000254051	Transcript	.	.	ENSG00000131746	24352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENS4_HUMAN	TNS4	HGNC	.	.	UPI000013CE0F	SNV	TNS4,synonymous_variant,p.%3D,ENST00000254051,;TNS4,upstream_gene_variant,,ENST00000582747,;TNS4,upstream_gene_variant,,ENST00000497303,;TNS4,upstream_gene_variant,,ENST00000394072,;	1674	28	45	SUCCESS
KRT25	147183	.	GRCh37	17	38911527	38911527	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	50	0	ENST00000312150.4:c.-4T>C		p.*2*	ENST00000312150	NM_181534.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11373.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTATCAGG	NONE	.	.	.	.	.	ENSP00000310573	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000312150	Transcript	.	.	ENSG00000204897	30839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1C25_HUMAN	KRT25	HGNC	.	.	UPI000019B3C3	SNV	KRT25,5_prime_UTR_variant,,ENST00000312150,;	58	50	42	SUCCESS
TBX4	9496	.	GRCh37	17	59557329	59557329	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1212088953	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	62	0	ENST00000240335.1:c.790A>G	p.Ser264Gly	p.S264G	ENST00000240335	NM_018488.2	264	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS11629.1	790	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGAGGTGG	NONE	.	.	hmmpanther:PTHR11267:SF29,hmmpanther:PTHR11267	.	.	ENSP00000240335	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000240335	Transcript	.	.	ENSG00000121075	11603	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.965)	.	tolerated(0.4)	.	TBX4_HUMAN	TBX4	HGNC	K7EPY2_HUMAN	.	UPI000013CAA9	SNV	TBX4,missense_variant,p.Ser264Gly,ENST00000240335,;TBX4,missense_variant,p.Ser264Gly,ENST00000393853,;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,splice_region_variant,,ENST00000586874,;TBX4,splice_region_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,splice_region_variant,,ENST00000590174,;	835	62	74	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14763926	14763926	+	synonymous_variant	Silent	SNP	A	A	C	rs1396289449	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	51	0	ENST00000358984.4:c.1062A>C	p.Ala354=	p.A354=	ENST00000358984	NM_001145029.1	354	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS54182.1	1062	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCAAAAGA	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147	.	.	ENSP00000351875	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,synonymous_variant,p.%3D,ENST00000447268,;ANKRD30B,synonymous_variant,p.%3D,ENST00000358984,;RNU6-1210P,downstream_gene_variant,,ENST00000363775,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,synonymous_variant,p.%3D,ENST00000580206,;	1242	51	55	SUCCESS
LAMA1	284217	.	GRCh37	18	6955380	6955380	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs550959766	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	50	0	ENST00000389658.3:c.8179C>T	p.Pro2727Ser	p.P2727S	ENST00000389658	NM_005559.3	2727	Cct/Tct	0	.	C:0	.	C:0	.	A	P/S	protein_coding	YES	CCDS32787.1	8179	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGCAAGA	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	C:0	.	ENSP00000374309	C:0	57/63	.	.	.	.	.	.	.	.	rs550959766	57/63	PASS	ENST00000389658	Transcript	.	C:0.0008	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	C:0.0041	tolerated(0.32)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Pro2727Ser,ENST00000389658,;RP11-781P6.1,non_coding_transcript_exon_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	8273	50	51	SUCCESS
KCNG2	26251	.	GRCh37	18	77659126	77659126	+	synonymous_variant	Silent	SNP	C	C	T	rs753634460	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	28	0	ENST00000316249.3:c.711C>T	p.Ser237=	p.S237=	ENST00000316249	NM_012283.1	237	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12019.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCCTGCA	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537:SF90,hmmpanther:PTHR11537	.	.	ENSP00000315654	.	2/2	.	.	.	.	.	.	.	.	rs753634460,COSM1524165	2/2	PASS	ENST00000316249	Transcript	.	.	ENSG00000178342	6249	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNG2_HUMAN	KCNG2	HGNC	.	.	UPI000012DC9B	SNV	KCNG2,synonymous_variant,p.%3D,ENST00000316249,;PQLC1,downstream_gene_variant,,ENST00000590381,;PQLC1,downstream_gene_variant,,ENST00000397778,;PQLC1,downstream_gene_variant,,ENST00000357575,;PQLC1,downstream_gene_variant,,ENST00000409073,;KCNG2,non_coding_transcript_exon_variant,,ENST00000590307,;PQLC1,downstream_gene_variant,,ENST00000469369,;PQLC1,downstream_gene_variant,,ENST00000590895,;PQLC1,downstream_gene_variant,,ENST00000466449,;PQLC1,downstream_gene_variant,,ENST00000351365,;PQLC1,downstream_gene_variant,,ENST00000474967,;	711	28	24	SUCCESS
SLC44A2	57153	.	GRCh37	19	10742002	10742002	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	46	0	ENST00000335757.5:c.382A>G	p.Ser128Gly	p.S128G	ENST00000335757		128	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS12245.1	382	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCAGCTCC	NONE	.	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF34	.	.	ENSP00000336888	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000335757	Transcript	.	.	ENSG00000129353	17292	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.43)	.	CTL2_HUMAN	SLC44A2	HGNC	B3KX31_HUMAN	.	UPI000013CCAB	SNV	SLC44A2,missense_variant,p.Ser128Gly,ENST00000586078,;SLC44A2,missense_variant,p.Ser126Gly,ENST00000407327,;SLC44A2,missense_variant,p.Ser128Gly,ENST00000335757,;SLC44A2,missense_variant,p.Ser75Gly,ENST00000588688,;SLC44A2,missense_variant,p.Ser73Gly,ENST00000590382,;SLC44A2,5_prime_UTR_variant,,ENST00000590857,;SLC44A2,3_prime_UTR_variant,,ENST00000592293,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000588465,;SLC44A2,intron_variant,,ENST00000588409,;SLC44A2,upstream_gene_variant,,ENST00000588393,;SLC44A2,upstream_gene_variant,,ENST00000589561,;	758	46	52	SUCCESS
NOTCH3	4854	.	GRCh37	19	15292445	15292445	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	16	92	0	ENST00000263388.2:c.2734T>A	p.Cys912Ser	p.C912S	ENST00000263388	NM_000435.2	912	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12326.1	2734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCAGGTGC	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2gy5A03,PROSITE_patterns:PS00010,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Cys912Ser,ENST00000263388,;NOTCH3,missense_variant,p.Cys859Ser,ENST00000601011,;NOTCH3,upstream_gene_variant,,ENST00000600841,;NOTCH3,upstream_gene_variant,,ENST00000595045,;	2810	92	84	SUCCESS
KCNN1	3780	.	GRCh37	19	18092581	18092581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	71	0	ENST00000222249.9:c.562C>A	p.Leu188Ile	p.L188I	ENST00000222249	NM_002248.4	188	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS67611.1	562	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCTCATC	NONE	.	.	hmmpanther:PTHR10153:SF8,hmmpanther:PTHR10153,Pfam_domain:PF03530,Gene3D:1.10.287.70	.	.	ENSP00000476519	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000222249	Transcript	.	.	ENSG00000105642	6290	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.27)	.	KCNN1_HUMAN	KCNN1	HGNC	.	.	UPI00001649F9	SNV	KCNN1,missense_variant,p.Leu188Ile,ENST00000222249,;	881	71	55	SUCCESS
DOHH	83475	.	GRCh37	19	3496791	3496791	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375206434	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	19	0	ENST00000250937.3:c.22G>A	p.Asp8Asn	p.D8N	ENST00000250937	NM_031304.4	8	Gat/Aat	0	G:0	.	.	.	.	T	D/N	protein_coding	YES	CCDS12108.1	22	RADIA|SOMATICSNIPER|MUSE	.	GGCATCCACCT	NONE	byCluster	.	hmmpanther:PTHR12697,HAMAP:MF_03101	.	G:0.0001	ENSP00000398882	.	2/5	.	.	.	.	.	.	.	.	rs375206434	2/5	PASS	ENST00000427575	Transcript	.	.	ENSG00000129932	28662	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.37)	.	DOHH_HUMAN	DOHH	HGNC	K7EIV2_HUMAN	.	UPI0000071C59	SNV	DOHH,missense_variant,p.Asp8Asn,ENST00000250937,;DOHH,missense_variant,p.Asp8Asn,ENST00000427575,;DOHH,missense_variant,p.Asp8Asn,ENST00000592858,;DOHH,upstream_gene_variant,,ENST00000587122,;RN7SL866P,upstream_gene_variant,,ENST00000578785,;DOHH,upstream_gene_variant,,ENST00000586906,;	474	19	19	SUCCESS
ZNF568	374900	.	GRCh37	19	37413702	37413702	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	44	0	ENST00000333987.7:c.30T>A	p.Asn10Lys	p.N10K	ENST00000333987	NM_001204835.1	10	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS42558.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAATAGCTG	NONE	.	.	.	.	.	ENSP00000334685	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000333987	Transcript	.	.	ENSG00000198453	25392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.48)	.	ZN568_HUMAN	ZNF568	HGNC	A2VDJ6_HUMAN	.	UPI000059D700	SNV	ZNF568,missense_variant,p.Asn10Lys,ENST00000333987,;ZNF568,missense_variant,p.Asn10Lys,ENST00000444991,;ZNF568,missense_variant,p.Asn10Lys,ENST00000427117,;ZNF568,intron_variant,,ENST00000415168,;ZNF568,intron_variant,,ENST00000455427,;ZNF568,intron_variant,,ENST00000587130,;ZNF568,intron_variant,,ENST00000587857,;	536	44	46	SUCCESS
PAK4	10298	.	GRCh37	19	39660216	39660216	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1177227980	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	99	0	ENST00000358301.3:c.23G>A	p.Arg8Gln	p.R8Q	ENST00000358301	NM_001014832.1	8	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS12528.1	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGGGTGG	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF181,Gene3D:3.90.810.10	.	.	ENSP00000469413	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000593690	Transcript	.	.	ENSG00000130669	16059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	PAK4_HUMAN	PAK4	HGNC	M0R2X4_HUMAN,B4DUG0_HUMAN	.	UPI0000001281	SNV	PAK4,missense_variant,p.Arg46Gln,ENST00000602004,;PAK4,missense_variant,p.Arg8Gln,ENST00000321944,;PAK4,missense_variant,p.Arg8Gln,ENST00000360442,;PAK4,missense_variant,p.Arg8Gln,ENST00000358301,;PAK4,missense_variant,p.Arg8Gln,ENST00000599470,;PAK4,missense_variant,p.Arg8Gln,ENST00000599657,;PAK4,missense_variant,p.Arg8Gln,ENST00000593480,;PAK4,missense_variant,p.Arg8Gln,ENST00000593690,;PAK4,missense_variant,p.Arg8Gln,ENST00000599386,;PAK4,missense_variant,p.Arg8Gln,ENST00000435673,;	450	99	93	SUCCESS
SHC2	25759	.	GRCh37	19	430742	430742	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	59	0	ENST00000264554.6:c.1116A>G	p.Pro372=	p.P372=	ENST00000264554	NM_012435.2	372	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS45891.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGATGGGCC	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF5	.	.	ENSP00000264554	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000264554	Transcript	.	.	ENSG00000129946	29869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHC2_HUMAN	SHC2	HGNC	.	.	UPI0000DD84C2	SNV	SHC2,synonymous_variant,p.%3D,ENST00000264554,;SHC2,3_prime_UTR_variant,,ENST00000590170,;SHC2,non_coding_transcript_exon_variant,,ENST00000589922,;SHC2,downstream_gene_variant,,ENST00000590222,;	1116	59	38	SUCCESS
ARHGAP35	2909	.	GRCh37	19	47425519	47425519	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs746041884	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	56	0	ENST00000404338.3:c.3587A>T	p.Gln1196Leu	p.Q1196L	ENST00000404338	NM_004491.4	1196	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46127.1	3587	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCAGGGTT	NONE	byFrequency	.	hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26	.	.	ENSP00000385720	.	1/6	.	.	.	.	.	.	.	.	rs746041884	1/6	PASS	ENST00000404338	Transcript	.	.	ENSG00000160007	4591	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.173)	.	tolerated(0.25)	.	RHG35_HUMAN	ARHGAP35	HGNC	.	.	UPI0000163F71	SNV	ARHGAP35,missense_variant,p.Gln1196Leu,ENST00000404338,;	3587	56	38	SUCCESS
FBXL12	54850	.	GRCh37	19	9929361	9929361	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	65	0	ENST00000247977.4:c.86+43A>G		p.*29*	ENST00000247977	NM_017703.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12218.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTGCGCC	NONE	.	.	.	.	.	ENSP00000247977	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000247977	Transcript	.	.	ENSG00000127452	13611	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL12_HUMAN	FBXL12	HGNC	K7EPN7_HUMAN,K7ELM5_HUMAN	.	UPI000006EBD0	SNV	FBXL12,synonymous_variant,p.%3D,ENST00000586651,;FBXL12,intron_variant,,ENST00000586073,;FBXL12,intron_variant,,ENST00000588922,;FBXL12,intron_variant,,ENST00000586469,;FBXL12,intron_variant,,ENST00000592067,;FBXL12,intron_variant,,ENST00000589626,;FBXL12,intron_variant,,ENST00000590277,;FBXL12,intron_variant,,ENST00000247977,;FBXL12,intron_variant,,ENST00000585379,;SNORA70,upstream_gene_variant,,ENST00000363367,;AC008752.1,upstream_gene_variant,,ENST00000401283,;FBXL12,synonymous_variant,p.%3D,ENST00000589438,;FBXL12,intron_variant,,ENST00000590808,;FBXL12,intron_variant,,ENST00000592732,;RPL10P15,upstream_gene_variant,,ENST00000585756,;	.	65	48	SUCCESS
STXBP3	6814	.	GRCh37	1	109340861	109340861	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	273	39	319	0	ENST00000370008.3:c.1449+2T>C		p.X483_splice	ENST00000370008	NM_007269.2	483		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS790.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTAAAAA	NONE	.	.	.	.	.	ENSP00000359025	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	HIGH	16/18	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,splice_donor_variant,,ENST00000370008,;STXBP3,splice_donor_variant,,ENST00000472099,;STXBP3,downstream_gene_variant,,ENST00000495245,;	.	319	312	SUCCESS
MAGI3	260425	.	GRCh37	1	114184617	114184619	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	TCA	TCA	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	52	0	ENST00000307546.9:c.1445_1447del	p.Val482_Asn483delinsAsp	p.V482_N483delinsD	ENST00000307546	NM_001142782.1	482	gTCAat/gat	0	.	.	.	.	.	-	VN/D	protein_coding	YES	CCDS44196.1	1445-1447	INDELOCATOR*|VARSCANI*|PINDEL	.	TACCTGTCAATCAG	NONE	.	.	hmmpanther:PTHR10316:SF10,hmmpanther:PTHR10316,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000304604	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000307546	Transcript	.	.	ENSG00000081026	29647	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAGI3_HUMAN	MAGI3	HGNC	.	.	UPI00004589AE	deletion	MAGI3,inframe_deletion,p.Val507_Asn508delinsAsp,ENST00000369617,;MAGI3,inframe_deletion,p.Val482_Asn483delinsAsp,ENST00000369615,;MAGI3,inframe_deletion,p.Val482_Asn483delinsAsp,ENST00000307546,;MAGI3,inframe_deletion,p.Val482_Asn483delinsAsp,ENST00000369611,;	1520-1522	52	57	SUCCESS
CCT3	7203	.	GRCh37	1	156287239	156287239	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1326859400	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	68	1	ENST00000295688.3:c.859C>T	p.Pro287Ser	p.P287S	ENST00000295688	NM_005998.4	287	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1140.2	859	MUTECT|MUSE|VARSCANS	.	ATCGGGCTTCA	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	.	.	ENSP00000295688	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Pro242Ser,ENST00000368261,;CCT3,missense_variant,p.Pro249Ser,ENST00000368259,;CCT3,missense_variant,p.Pro242Ser,ENST00000472765,;CCT3,missense_variant,p.Pro287Ser,ENST00000295688,;CCT3,downstream_gene_variant,,ENST00000446905,;CCT3,downstream_gene_variant,,ENST00000533194,;CCT3,downstream_gene_variant,,ENST00000496684,;CCT3,downstream_gene_variant,,ENST00000413555,;CCT3,downstream_gene_variant,,ENST00000478640,;CCT3,downstream_gene_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,downstream_gene_variant,,ENST00000490221,;	1140	69	97	SUCCESS
MEF2D	4209	.	GRCh37	1	156450690	156450690	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761552496	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	40	0	ENST00000348159.4:c.332C>G	p.Pro111Arg	p.P111R	ENST00000348159	NM_005920.3	111	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS1143.1	332	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGGGCTC	NONE	.	.	Pfam_domain:PF12347,hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF23	.	.	ENSP00000271555	.	4/12	.	.	.	.	.	.	.	.	rs761552496	4/12	PASS	ENST00000348159	Transcript	.	.	ENSG00000116604	6997	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.529)	.	deleterious(0)	.	MEF2D_HUMAN	MEF2D	HGNC	.	.	UPI000012EEB6	SNV	MEF2D,missense_variant,p.Pro111Arg,ENST00000348159,;MEF2D,missense_variant,p.Pro111Arg,ENST00000360595,;MEF2D,missense_variant,p.Pro111Arg,ENST00000368240,;MEF2D,intron_variant,,ENST00000353795,;MEF2D,intron_variant,,ENST00000464356,;MEF2D,intron_variant,,ENST00000340875,;MEF2D,downstream_gene_variant,,ENST00000489057,;Y_RNA,downstream_gene_variant,,ENST00000383924,;MEF2D,missense_variant,p.Pro111Arg,ENST00000475587,;MEF2D,upstream_gene_variant,,ENST00000493077,;	813	40	44	SUCCESS
SLAMF8	56833	.	GRCh37	1	159802826	159802826	+	synonymous_variant	Silent	SNP	A	A	G	rs757156956	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	61	0	ENST00000289707.5:c.528A>G	p.Pro176=	p.P176=	ENST00000289707	NM_020125.2	176	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1188.1	528	MUTECT|MUSE	.	GAACCACACAG	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13927,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF45,PROSITE_profiles:PS50835	.	.	ENSP00000289707	.	3/5	.	.	.	.	.	.	.	.	rs757156956	3/5	PASS	ENST00000289707	Transcript	.	.	ENSG00000158714	21391	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAF8_HUMAN	SLAMF8	HGNC	.	.	UPI000003E841	SNV	SLAMF8,synonymous_variant,p.%3D,ENST00000368104,;SLAMF8,synonymous_variant,p.%3D,ENST00000289707,;C1orf204,downstream_gene_variant,,ENST00000368102,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000497141,;C1orf204,downstream_gene_variant,,ENST00000491974,;	677	61	59	SUCCESS
CACNA1E	777	.	GRCh37	1	181741311	181741311	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1160971846	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	77	1	ENST00000367573.2:c.5083G>A	p.Gly1695Ser	p.G1695S	ENST00000367573	NM_001205293.1	1695	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS55664.1	5083	RADIA|MUTECT|MUSE	.	GCTGCGGCACC	SITE|p.G1695S|c.5083G>A|3,SITE|p.G1695S|c.5083G>A|3	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	37/48	.	.	.	.	.	.	.	.	COSM458360,COSM3943173,COSM1134407	37/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	probably_damaging(0.961)	.	deleterious(0)	1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Gly1302Ser,ENST00000367567,;CACNA1E,missense_variant,p.Gly1676Ser,ENST00000360108,;CACNA1E,missense_variant,p.Gly1627Ser,ENST00000358338,;CACNA1E,missense_variant,p.Gly1646Ser,ENST00000357570,;CACNA1E,missense_variant,p.Gly1676Ser,ENST00000526775,;CACNA1E,missense_variant,p.Gly1695Ser,ENST00000367570,;CACNA1E,missense_variant,p.Gly1695Ser,ENST00000367573,;RNA5SP70,downstream_gene_variant,,ENST00000517168,;	5083	78	105	SUCCESS
TEDDM1	127670	.	GRCh37	1	182369506	182369506	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs762763070	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	99	0	ENST00000367565.1:c.115C>G	p.Leu39Val	p.L39V	ENST00000367565	NM_172000.3	39	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS30953.1	115	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGAGGGAGC	NONE	.	.	hmmpanther:PTHR16007:SF16,hmmpanther:PTHR16007,Transmembrane_helices:TMhelix	.	.	ENSP00000356536	.	1/1	.	.	.	.	.	.	.	.	rs762763070	1/1	PASS	ENST00000367565	Transcript	.	.	ENSG00000203730	30233	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.26)	.	TEDM1_HUMAN	TEDDM1	HGNC	.	.	UPI0000470B8B	SNV	TEDDM1,missense_variant,p.Leu39Val,ENST00000367565,;	246	99	118	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182872216	182872216	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	74	0	ENST00000367547.3:c.1668C>T	p.Thr556=	p.T556=	ENST00000367547	NM_030933.2	556	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30955.1	1668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTGGTTCT	NONE	.	.	hmmpanther:PTHR14695:SF7,hmmpanther:PTHR14695,Pfam_domain:PF13229,Gene3D:2.160.20.10,SMART_domains:SM00710,Superfamily_domains:SSF51126	.	.	ENSP00000356518	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000367547	Transcript	.	.	ENSG00000157060	16788	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	SNV	SHCBP1L,synonymous_variant,p.%3D,ENST00000423786,;SHCBP1L,synonymous_variant,p.%3D,ENST00000367547,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;	1905	74	77	SUCCESS
RPS6KC1	26750	.	GRCh37	1	213224717	213224719	+	5_prime_UTR_variant	5'UTR	DEL	GGT	GGT	-	rs771262739	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	GGT	GGT	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	31	0	ENST00000366960.3:c.-28_-26del		p.*10*	ENST00000366960	NM_012424.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1513.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGCGGGTGGCGG	NONE	.	.	.	.	.	ENSP00000355927	.	1/15	.	.	.	.	.	.	.	.	rs771262739	1/15	common_in_exac	ENST00000366960	Transcript	.	.	ENSG00000136643	10439	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KS6C1_HUMAN	RPS6KC1	HGNC	.	.	UPI0000071B8C	deletion	RPS6KC1,5_prime_UTR_variant,,ENST00000366959,;RPS6KC1,5_prime_UTR_variant,,ENST00000366960,;RPS6KC1,5_prime_UTR_variant,,ENST00000543354,;RPS6KC1,5_prime_UTR_variant,,ENST00000543470,;	121-123	31	47	SUCCESS
TP53BP2	7159	.	GRCh37	1	223983762	223983762	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	12	58	0	ENST00000343537.7:c.2479A>T	p.Ser827Cys	p.S827C	ENST00000343537	NM_001031685.2	827	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS44319.1	2479	RADIA|MUTECT|MUSE|VARSCANS	.	GTCACTGTTCT	NONE	.	.	hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131	.	.	ENSP00000341957	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000343537	Transcript	.	.	ENSG00000143514	12000	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.401)	.	deleterious(0.02)	.	ASPP2_HUMAN	TP53BP2	HGNC	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN	.	UPI0000D4B5F2	SNV	TP53BP2,missense_variant,p.Ser827Cys,ENST00000343537,;TP53BP2,missense_variant,p.Ser161Cys,ENST00000494100,;TP53BP2,missense_variant,p.Ser698Cys,ENST00000391878,;TP53BP2,missense_variant,p.Ser60Cys,ENST00000391879,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,downstream_gene_variant,,ENST00000489310,;TP53BP2,3_prime_UTR_variant,,ENST00000483398,;TP53BP2,downstream_gene_variant,,ENST00000464656,;TP53BP2,downstream_gene_variant,,ENST00000490896,;	2771	58	90	SUCCESS
KIF26B	55083	.	GRCh37	1	245849634	245849634	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	54	0	ENST00000407071.2:c.3349G>A	p.Glu1117Lys	p.E1117K	ENST00000407071	NM_018012.3	1117	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS44342.1	3349	RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGGAGTCC	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious(0.01)	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Glu1117Lys,ENST00000407071,;KIF26B,missense_variant,p.Glu736Lys,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	3789	54	68	SUCCESS
AHCTF1	25909	.	GRCh37	1	247068901	247068901	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	429	175	502	1	ENST00000326225.3:c.850C>T	p.Pro284Ser	p.P284S	ENST00000326225	NM_015446.4	284	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1629.2	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGTTCTT	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Pro275Ser,ENST00000391829,;AHCTF1,missense_variant,p.Pro310Ser,ENST00000366508,;AHCTF1,missense_variant,p.Pro284Ser,ENST00000326225,;	947	504	604	SUCCESS
OR2T12	127064	.	GRCh37	1	248458182	248458182	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	49	282	0	ENST00000317996.1:c.699G>A	p.Lys233=	p.K233=	ENST00000317996	NM_001004692.1	233	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS31110.1	699	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCTTGCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,synonymous_variant,p.%3D,ENST00000317996,;	699	282	322	SUCCESS
KIAA0319L	79932	.	GRCh37	1	35921730	35921730	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1188136112	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	13	125	0	ENST00000325722.3:c.1540A>G	p.Thr514Ala	p.T514A	ENST00000325722	NM_024874.4	514	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS390.1	1540	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTGATCA	NONE	.	.	Superfamily_domains:SSF49299,SMART_domains:SM00089,Pfam_domain:PF02010,Gene3D:2.60.40.670,hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083	.	.	ENSP00000318406	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000325722	Transcript	.	.	ENSG00000142687	30071	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	K319L_HUMAN	KIAA0319L	HGNC	E7EN73_HUMAN,C9JVB2_HUMAN,C9JQ56_HUMAN,C9J519_HUMAN,B1AN15_HUMAN	.	UPI000003F081	SNV	KIAA0319L,missense_variant,p.Thr514Ala,ENST00000440579,;KIAA0319L,missense_variant,p.Thr514Ala,ENST00000325722,;KIAA0319L,missense_variant,p.Thr514Ala,ENST00000426982,;KIAA0319L,upstream_gene_variant,,ENST00000373266,;KIAA0319L,downstream_gene_variant,,ENST00000431916,;KIAA0319L,non_coding_transcript_exon_variant,,ENST00000485551,;KIAA0319L,upstream_gene_variant,,ENST00000492544,;KIAA0319L,upstream_gene_variant,,ENST00000467109,;KIAA0319L,downstream_gene_variant,,ENST00000482929,;	1775	125	110	SUCCESS
DNAJB4	11080	.	GRCh37	1	78479141	78479141	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	59	0	ENST00000370763.5:c.618A>G	p.Lys206=	p.K206=	ENST00000370763	NM_007034.3	206	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS684.1	618	MUTECT|MUSE	.	AAAAAAGGGTG	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	.	.	ENSP00000359799	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000370763	Transcript	.	.	ENSG00000162616	14886	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJB4_HUMAN	DNAJB4	HGNC	C9JUL4_HUMAN,B4DNN2_HUMAN	.	UPI000000164F	SNV	DNAJB4,synonymous_variant,p.%3D,ENST00000370763,;DNAJB4,downstream_gene_variant,,ENST00000426517,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000484662,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000487931,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000477671,;GIPC2,intron_variant,,ENST00000476882,;DNAJB4,intron_variant,,ENST00000476396,;	875	59	51	SUCCESS
GBP7	388646	.	GRCh37	1	89607248	89607248	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	50	0	ENST00000294671.2:c.1449T>A	p.Ala483=	p.A483=	ENST00000294671	NM_207398.2	483	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS720.1	1449	MUTECT|MUSE	.	TCTCCAGCAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:0037397,Gene3D:1f5nA01,Pfam_domain:PF02841,hmmpanther:PTHR10751:SF18,hmmpanther:PTHR10751	.	.	ENSP00000294671	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000294671	Transcript	.	.	ENSG00000213512	29606	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBP7_HUMAN	GBP7	HGNC	.	.	UPI000013E1A3	SNV	GBP7,synonymous_variant,p.%3D,ENST00000294671,;GBP2,intron_variant,,ENST00000464839,;	1588	50	53	SUCCESS
EVI5	7813	.	GRCh37	1	93159906	93159906	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	39	187	0	ENST00000370331.1:c.1081del	p.Gln361ArgfsTer2	p.Q361Rfs*2	ENST00000370331	NM_005665.4	361	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS30774.1	1081	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATCTGAAGAA	NONE	.	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF197	.	.	ENSP00000359356	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000370331	Transcript	.	.	ENSG00000067208	3501	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EVI5_HUMAN	EVI5	HGNC	.	.	UPI0000470AFE	deletion	EVI5,frameshift_variant,p.Gln361ArgfsTer2,ENST00000543509,;EVI5,frameshift_variant,p.Gln361ArgfsTer2,ENST00000540033,;EVI5,frameshift_variant,p.Gln361ArgfsTer2,ENST00000370331,;	1091	187	207	SUCCESS
SEL1L2	80343	.	GRCh37	20	13830846	13830846	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	48	0	ENST00000284951.5:c.1938G>T	p.Leu646=	p.L646=	ENST00000284951		646	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59443.1	1599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACAGGAT	NONE	.	.	hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102	.	.	ENSP00000367312	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000378072	Transcript	.	.	ENSG00000101251	15897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SE1L2_HUMAN	SEL1L2	HGNC	C9JNX3_HUMAN	.	UPI000003BCBF	SNV	SEL1L2,synonymous_variant,p.%3D,ENST00000284951,;SEL1L2,synonymous_variant,p.%3D,ENST00000378072,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000482196,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000492548,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;SEL1L2,3_prime_UTR_variant,,ENST00000475649,;	1681	48	55	SUCCESS
EBF4	57593	.	GRCh37	20	2730134	2730134	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	33	0	ENST00000609451.1:c.727C>A	p.Arg243Ser	p.R243S	ENST00000609451		243	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46573.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCGCAGG	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000370022	.	9/18	.	.	.	.	.	.	.	.	COSM3939288	9/18	PASS	ENST00000380648	Transcript	.	.	ENSG00000088881	29278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.967)	.	deleterious(0)	1	.	EBF4	HGNC	Q7Z5T1_HUMAN,E9PEI2_HUMAN	.	UPI00001C2038	SNV	EBF4,missense_variant,p.Arg239Ser,ENST00000380648,;EBF4,missense_variant,p.Arg262Ser,ENST00000342725,;EBF4,missense_variant,p.Arg243Ser,ENST00000609451,;EBF4,missense_variant,p.Arg113Ser,ENST00000463145,;EBF4,downstream_gene_variant,,ENST00000469215,;EBF4,upstream_gene_variant,,ENST00000481662,;EBF4,upstream_gene_variant,,ENST00000491472,;EBF4,missense_variant,p.Arg239Ser,ENST00000449079,;EBF4,non_coding_transcript_exon_variant,,ENST00000609967,;	983	33	50	SUCCESS
CNBD2	140894	.	GRCh37	20	34568392	34568392	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	22	87	0	ENST00000373973.3:c.255T>C	p.Pro85=	p.P85=	ENST00000373973		85	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13270.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTCCAAA	NONE	.	.	hmmpanther:PTHR23011:SF1,hmmpanther:PTHR23011	.	.	ENSP00000340954	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000349339	Transcript	.	.	ENSG00000149646	16145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNBD2_HUMAN	CNBD2	HGNC	.	.	UPI0000367038	SNV	CNBD2,synonymous_variant,p.%3D,ENST00000373973,;CNBD2,synonymous_variant,p.%3D,ENST00000538900,;CNBD2,synonymous_variant,p.%3D,ENST00000349339,;CNBD2,synonymous_variant,p.%3D,ENST00000463258,;	411	87	80	SUCCESS
ZNFX1	57169	.	GRCh37	20	47864666	47864666	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	95	0	ENST00000371752.1:c.4895A>G	p.Tyr1632Cys	p.Y1632C	ENST00000371752		1632	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13417.1	4895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATACCTC	NONE	.	.	.	.	.	ENSP00000379412	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000396105	Transcript	.	.	ENSG00000124201	29271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZNFX1_HUMAN	ZNFX1	HGNC	Q5JXR5_HUMAN	.	UPI000012DD83	SNV	ZNFX1,missense_variant,p.Tyr1632Cys,ENST00000371752,;ZNFX1,missense_variant,p.Tyr1632Cys,ENST00000396105,;ZNFX1,intron_variant,,ENST00000371754,;DDX27,downstream_gene_variant,,ENST00000371764,;DDX27,downstream_gene_variant,,ENST00000471144,;DDX27,downstream_gene_variant,,ENST00000484427,;ZNFX1,upstream_gene_variant,,ENST00000469991,;	5142	95	93	SUCCESS
BCAS1	8537	.	GRCh37	20	52644852	52644852	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	24	0	ENST00000395961.3:c.723+79G>A		p.*241*	ENST00000395961	NM_003657.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13444.1	.	MUSE|VARSCANS	.	GACTGCATATG	NONE	.	.	.	.	.	ENSP00000379290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395961	Transcript	.	.	ENSG00000064787	974	.	.	MODIFIER	4/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCAS1_HUMAN	BCAS1	HGNC	.	.	UPI000013D2E2	SNV	BCAS1,3_prime_UTR_variant,,ENST00000411563,;BCAS1,intron_variant,,ENST00000395961,;BCAS1,intron_variant,,ENST00000371435,;BCAS1,intron_variant,,ENST00000371440,;BCAS1,intron_variant,,ENST00000448484,;	.	24	31	SUCCESS
NKAIN4	128414	.	GRCh37	20	61880213	61880213	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	35	0	ENST00000370316.3:c.227A>G	p.Asn76Ser	p.N76S	ENST00000370316	NM_152864.3	76	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS13514.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACGTTCCAG	NONE	.	.	Pfam_domain:PF05640,hmmpanther:PTHR13084:SF5,hmmpanther:PTHR13084,Transmembrane_helices:TMhelix	.	.	ENSP00000359340	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000370316	Transcript	.	.	ENSG00000101198	16191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.03)	.	NKAI4_HUMAN	NKAIN4	HGNC	A6NNM2_HUMAN	.	UPI000013C71B	SNV	NKAIN4,missense_variant,p.Asn14Ser,ENST00000370307,;NKAIN4,missense_variant,p.Asn6Ser,ENST00000370317,;NKAIN4,missense_variant,p.Asn14Ser,ENST00000370313,;NKAIN4,missense_variant,p.Asn76Ser,ENST00000370316,;NKAIN4,non_coding_transcript_exon_variant,,ENST00000472670,;NKAIN4,upstream_gene_variant,,ENST00000466885,;NKAIN4,upstream_gene_variant,,ENST00000470246,;NKAIN4,non_coding_transcript_exon_variant,,ENST00000461738,;NKAIN4,non_coding_transcript_exon_variant,,ENST00000486495,;	317	35	42	SUCCESS
APP	351	.	GRCh37	21	27372447	27372447	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	77	1	ENST00000346798.3:c.916C>T	p.Arg306Cys	p.R306C	ENST00000346798	NM_000484.3	306	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13576.1	916	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGGGAGA	NONE	.	.	Superfamily_domains:SSF57362,SMART_domains:SM00131,Pfam_domain:PF00014,Gene3D:4.10.410.10,hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103,PROSITE_profiles:PS50279	.	.	ENSP00000284981	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,missense_variant,p.Arg301Cys,ENST00000440126,;APP,missense_variant,p.Arg306Cys,ENST00000358918,;APP,missense_variant,p.Arg306Cys,ENST00000357903,;APP,missense_variant,p.Arg306Cys,ENST00000346798,;APP,missense_variant,p.Arg228Cys,ENST00000448850,;APP,missense_variant,p.Arg250Cys,ENST00000439274,;APP,intron_variant,,ENST00000415997,;APP,intron_variant,,ENST00000359726,;APP,intron_variant,,ENST00000354192,;APP,intron_variant,,ENST00000348990,;APP,intron_variant,,ENST00000448388,;APP,non_coding_transcript_exon_variant,,ENST00000491395,;	950	78	73	SUCCESS
RFPL3	10738	.	GRCh37	22	32754310	32754310	+	synonymous_variant	Silent	SNP	C	C	T	rs749648064	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	21	113	0	ENST00000249007.4:c.252C>T	p.Val84=	p.V84=	ENST00000249007	NM_001098535.1	84	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS43011.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTCTCTCA	NONE	.	.	Superfamily_domains:SSF57850,Pfam_domain:PF11002,Gene3D:3.30.40.10,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211	.	.	ENSP00000249007	.	1/2	.	.	.	.	.	.	.	.	rs749648064	1/2	PASS	ENST00000249007	Transcript	.	.	ENSG00000128276	9980	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFPL3_HUMAN	RFPL3	HGNC	.	.	UPI000013CC68	SNV	RFPL3,synonymous_variant,p.%3D,ENST00000249007,;RFPL3,synonymous_variant,p.%3D,ENST00000397468,;RFPL3,synonymous_variant,p.%3D,ENST00000382088,;RFPL3S,downstream_gene_variant,,ENST00000400234,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	457	113	128	SUCCESS
PICK1	9463	.	GRCh37	22	38469082	38469082	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199605777	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	16	100	0	ENST00000356976.3:c.766G>A	p.Val256Met	p.V256M	ENST00000356976	NM_012407.3	256	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13965.1	766	RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGTGAAG	NONE	byCluster	.	PROSITE_profiles:PS50870,hmmpanther:PTHR12141,hmmpanther:PTHR12141:SF2,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015,Superfamily_domains:SSF103657	.	.	ENSP00000385205	.	10/13	.	.	.	.	.	.	.	.	rs199605777	10/13	PASS	ENST00000404072	Transcript	.	.	ENSG00000100151	9394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	PICK1_HUMAN	PICK1	HGNC	F6VY12_HUMAN,F6V107_HUMAN,F6TII1_HUMAN	.	UPI0000131A98	SNV	PICK1,missense_variant,p.Val256Met,ENST00000356976,;PICK1,missense_variant,p.Val256Met,ENST00000404072,;PICK1,downstream_gene_variant,,ENST00000437453,;PICK1,downstream_gene_variant,,ENST00000435166,;PICK1,downstream_gene_variant,,ENST00000424694,;RP5-1039K5.13,intron_variant,,ENST00000445483,;PICK1,downstream_gene_variant,,ENST00000468288,;PICK1,non_coding_transcript_exon_variant,,ENST00000484021,;PICK1,downstream_gene_variant,,ENST00000472724,;PICK1,downstream_gene_variant,,ENST00000466374,;PICK1,downstream_gene_variant,,ENST00000432756,;PICK1,downstream_gene_variant,,ENST00000426258,;PICK1,downstream_gene_variant,,ENST00000494434,;	1113	100	108	SUCCESS
PKDREJ	10343	.	GRCh37	22	46658708	46658708	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776386876	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	43	0	ENST00000253255.5:c.512C>G	p.Pro171Arg	p.P171R	ENST00000253255	NM_006071.1	171	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS14073.1	512	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGGGCCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000253255	.	1/1	.	.	.	.	.	.	.	.	rs776386876	1/1	PASS	ENST00000253255	Transcript	.	.	ENSG00000130943	9015	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.11)	.	PKDRE_HUMAN	PKDREJ	HGNC	A6MW40_HUMAN	.	UPI0000031D01	SNV	PKDREJ,missense_variant,p.Pro171Arg,ENST00000253255,;	512	43	48	SUCCESS
SLC9A4	389015	.	GRCh37	2	103120102	103120102	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs541859382	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	17	106	0	ENST00000295269.4:c.916G>A	p.Val306Ile	p.V306I	ENST00000295269	NM_001011552.3	306	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS33264.1	916	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCGTCTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF103,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840	.	.	ENSP00000295269	.	3/12	.	.	.	.	.	.	.	.	rs541859382	3/12	PASS	ENST00000295269	Transcript	.	.	ENSG00000180251	11077	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.11)	.	SL9A4_HUMAN	SLC9A4	HGNC	.	.	UPI000047F996	SNV	SLC9A4,missense_variant,p.Val306Ile,ENST00000295269,;SLC9A4,non_coding_transcript_exon_variant,,ENST00000492154,;	1373	106	108	SUCCESS
FHL2	2274	.	GRCh37	2	105977827	105977827	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	12	90	1	ENST00000322142.8:c.753T>C	p.Cys251=	p.C251=	ENST00000322142	NM_001039492.2	251	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS2070.1	753	RADIA|MUTECT|VARSCANS	.	TTCTTACAGTT	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF3,hmmpanther:PTHR24205,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716,Superfamily_domains:SSF57716	.	.	ENSP00000350846	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358129	Transcript	.	.	ENSG00000115641	3703	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHL2_HUMAN	FHL2	HGNC	Q6I9R8_HUMAN,Q53T40_HUMAN,Q53QP3_HUMAN,C9J3S8_HUMAN	.	UPI0000140D45	SNV	FHL2,synonymous_variant,p.%3D,ENST00000393352,;FHL2,synonymous_variant,p.%3D,ENST00000344213,;FHL2,synonymous_variant,p.%3D,ENST00000409807,;FHL2,synonymous_variant,p.%3D,ENST00000358129,;FHL2,synonymous_variant,p.%3D,ENST00000393353,;FHL2,synonymous_variant,p.%3D,ENST00000322142,;FHL2,synonymous_variant,p.%3D,ENST00000408995,;FHL2,synonymous_variant,p.%3D,ENST00000409177,;FHL2,3_prime_UTR_variant,,ENST00000336660,;AC012360.6,upstream_gene_variant,,ENST00000457290,;FHL2,3_prime_UTR_variant,,ENST00000530340,;FHL2,downstream_gene_variant,,ENST00000452732,;	1332	91	100	SUCCESS
POTEE	445582	.	GRCh37	2	131985863	131985863	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	70	0	ENST00000356920.5:c.964A>T	p.Ser322Cys	p.S322C	ENST00000356920	NM_001083538.1	322	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46414.1	964	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCAGCCTT	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000439189	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.902)	.	deleterious_low_confidence(0.01)	.	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,missense_variant,p.Ser322Cys,ENST00000356920,;POTEE,missense_variant,p.Ser332Cys,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;RNU6-127P,upstream_gene_variant,,ENST00000390897,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	1058	70	66	SUCCESS
XIRP2	129446	.	GRCh37	2	168107754	168107754	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	101	0	ENST00000409195.1:c.9852G>T	p.Val3284=	p.V3284=	ENST00000409195	NM_152381.5	3284	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS42769.1	9852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTGCCCGA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	9941	101	78	SUCCESS
CERKL	375298	.	GRCh37	2	182412568	182412568	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	11	100	0	ENST00000339098.5:c.1218A>G	p.Ala406=	p.A406=	ENST00000339098		406	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS42789.1	1218	MUTECT|MUSE|VARSCANS	.	CCCTGTGCCCT	NONE	.	.	Superfamily_domains:SSF111331,hmmpanther:PTHR12358:SF26,hmmpanther:PTHR12358	.	.	ENSP00000341159	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000339098	Transcript	.	.	ENSG00000188452	21699	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CERKL_HUMAN	CERKL	HGNC	G0XYE8_HUMAN,G0XYE7_HUMAN,G0XYD8_HUMAN	.	UPI000057259A	SNV	CERKL,synonymous_variant,p.%3D,ENST00000409440,;CERKL,synonymous_variant,p.%3D,ENST00000374970,;CERKL,synonymous_variant,p.%3D,ENST00000339098,;CERKL,synonymous_variant,p.%3D,ENST00000410087,;CERKL,synonymous_variant,p.%3D,ENST00000374969,;CERKL,non_coding_transcript_exon_variant,,ENST00000479558,;CERKL,3_prime_UTR_variant,,ENST00000374967,;CERKL,3_prime_UTR_variant,,ENST00000452174,;CERKL,non_coding_transcript_exon_variant,,ENST00000494398,;CERKL,intron_variant,,ENST00000421817,;	1218	100	106	SUCCESS
BMPR2	659	.	GRCh37	2	203417602	203417602	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767670878	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	44	0	ENST00000374580.4:c.1577A>G	p.Gln526Arg	p.Q526R	ENST00000374580	NM_001204.6	526	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS33361.1	1577	MUTECT|MUSE	.	TATGCAGAATG	NONE	.	.	hmmpanther:PTHR23255:SF63,hmmpanther:PTHR23255	.	.	ENSP00000363708	.	11/13	.	.	.	.	.	.	.	.	rs767670878	11/13	PASS	ENST00000374580	Transcript	.	.	ENSG00000204217	1078	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.4)	.	tolerated(0.13)	.	BMPR2_HUMAN	BMPR2	HGNC	.	.	UPI0000126A3B	SNV	BMPR2,missense_variant,p.Gln526Arg,ENST00000374574,;BMPR2,missense_variant,p.Gln526Arg,ENST00000374580,;	2116	44	55	SUCCESS
BMPR2	659	.	GRCh37	2	203421181	203421181	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	39	0	ENST00000374580.4:c.2793G>A	p.Lys931=	p.K931=	ENST00000374580	NM_001204.6	931	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS33361.1	2793	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGCCCAG	NONE	.	.	.	.	.	ENSP00000363708	.	12/13	.	.	.	.	.	.	.	.	COSM1236387	12/13	PASS	ENST00000374580	Transcript	.	.	ENSG00000204217	1078	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	BMPR2_HUMAN	BMPR2	HGNC	.	.	UPI0000126A3B	SNV	BMPR2,synonymous_variant,p.%3D,ENST00000374580,;BMPR2,intron_variant,,ENST00000374574,;	3332	39	36	SUCCESS
SERPINE2	5270	.	GRCh37	2	224903230	224903230	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	78	0	ENST00000258405.4:c.-23+586T>G		p.*8*	ENST00000258405	NM_001136528.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46525.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCAACTCC	NONE	.	.	.	.	.	ENSP00000415786	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000447280	Transcript	.	.	ENSG00000135919	8951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDN_HUMAN	SERPINE2	HGNC	C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN,B4DMR3_HUMAN	.	UPI00017A7317	SNV	SERPINE2,5_prime_UTR_variant,,ENST00000447280,;SERPINE2,intron_variant,,ENST00000454956,;SERPINE2,intron_variant,,ENST00000409304,;SERPINE2,intron_variant,,ENST00000258405,;SERPINE2,intron_variant,,ENST00000489065,;	292	78	67	SUCCESS
ALPP	250	.	GRCh37	2	233246210	233246210	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772475606	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	37	179	0	ENST00000392027.2:c.1313G>A	p.Ser438Asn	p.S438N	ENST00000392027	NM_001632.3	438	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS2490.1	1313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGAGCCCCG	NONE	byFrequency	.	hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	.	.	ENSP00000375881	.	11/11	.	.	.	.	.	.	.	.	rs772475606	11/11	PASS	ENST00000392027	Transcript	.	.	ENSG00000163283	439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.21)	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,missense_variant,p.Ser438Asn,ENST00000392027,;AC068134.8,non_coding_transcript_exon_variant,,ENST00000441266,;AC068134.8,upstream_gene_variant,,ENST00000439072,;ECEL1P2,downstream_gene_variant,,ENST00000461596,;ALPP,non_coding_transcript_exon_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;	1582	179	190	SUCCESS
KIF1A	547	.	GRCh37	2	241685283	241685283	+	synonymous_variant	Silent	SNP	G	G	A	rs368682964	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	9	125	0	ENST00000320389.7:c.2943C>T	p.Ala981=	p.A981=	ENST00000320389	NM_004321.6	981	gcC/gcT	0	A:0	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS58757.1	3246	MUTECT|MUSE	.	AGGGCGGCTTT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24115:SF361,hmmpanther:PTHR24115	A:0	A:0.0018	ENSP00000438388	A:0.001	31/50	.	.	.	.	.	.	.	.	rs368682964	31/50	common_in_exac	ENST00000498729	Transcript	.	A:0.0002	ENSG00000130294	888	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	KIF1A_HUMAN	KIF1A	HGNC	G1UI30_HUMAN,C9JBH1_HUMAN	.	UPI0002065B81	SNV	KIF1A,synonymous_variant,p.%3D,ENST00000498729,;KIF1A,synonymous_variant,p.%3D,ENST00000415042,;KIF1A,synonymous_variant,p.%3D,ENST00000320389,;KIF1A,synonymous_variant,p.%3D,ENST00000404283,;KIF1A,upstream_gene_variant,,ENST00000431776,;	3493	125	138	SUCCESS
CLHC1	130162	.	GRCh37	2	55407735	55407735	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	76	0	ENST00000401408.1:c.1295T>G	p.Leu432Arg	p.L432R	ENST00000401408	NM_152385.2	432	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS33201.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAGGCCA	NONE	.	.	hmmpanther:PTHR10292,Gene3D:1bpoA02,PIRSF_domain:PIRSF037469,Superfamily_domains:SSF48371	.	.	ENSP00000384869	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000401408	Transcript	.	.	ENSG00000162994	26453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.563)	.	tolerated(0.12)	.	CLHC1_HUMAN	CLHC1	HGNC	E7EVC5_HUMAN,D6W5C8_HUMAN,B5MC48_HUMAN	.	UPI00004DEC65	SNV	CLHC1,missense_variant,p.Leu432Arg,ENST00000407122,;CLHC1,missense_variant,p.Leu310Arg,ENST00000406076,;CLHC1,missense_variant,p.Leu432Arg,ENST00000401408,;CLHC1,5_prime_UTR_variant,,ENST00000406437,;CLHC1,non_coding_transcript_exon_variant,,ENST00000487320,;CLHC1,intron_variant,,ENST00000494539,;CLHC1,3_prime_UTR_variant,,ENST00000428621,;CLHC1,intron_variant,,ENST00000411884,;	1641	76	62	SUCCESS
RSAD2	91543	.	GRCh37	2	7027257	7027257	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	12	78	0	ENST00000382040.3:c.700A>G	p.Thr234Ala	p.T234A	ENST00000382040	NM_080657.4	234	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1656.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGACGGAA	NONE	.	.	Superfamily_domains:SSF102114,SMART_domains:SM00729,Gene3D:3.20.20.70,hmmpanther:PTHR21339,TIGRFAM_domain:TIGR04278	.	.	ENSP00000371471	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000382040	Transcript	.	.	ENSG00000134321	30908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.38)	.	RSAD2_HUMAN	RSAD2	HGNC	.	.	UPI000007242A	SNV	RSAD2,missense_variant,p.Thr127Ala,ENST00000541728,;RSAD2,missense_variant,p.Thr234Ala,ENST00000382040,;RSAD2,downstream_gene_variant,,ENST00000442639,;RSAD2,downstream_gene_variant,,ENST00000477834,;RSAD2,downstream_gene_variant,,ENST00000489749,;	836	78	79	SUCCESS
GCFC2	6936	.	GRCh37	2	75897385	75897385	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	57	0	ENST00000321027.3:c.1982A>C	p.Asn661Thr	p.N661T	ENST00000321027	NM_003203.4	661	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS1961.1	1982	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GTCCATTCCAA	NONE	.	.	hmmpanther:PTHR12214:SF1,hmmpanther:PTHR12214,Pfam_domain:PF07842	.	.	ENSP00000318690	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000321027	Transcript	.	.	ENSG00000005436	1317	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.622)	.	tolerated(0.07)	.	GCFC2_HUMAN	GCFC2	HGNC	B3KUM5_HUMAN,A4UHR0_HUMAN	.	UPI000013C96B	SNV	GCFC2,missense_variant,p.Asn661Thr,ENST00000321027,;GCFC2,missense_variant,p.Asn79Thr,ENST00000427862,;GCFC2,missense_variant,p.Asn623Thr,ENST00000409857,;GCFC2,3_prime_UTR_variant,,ENST00000541687,;MRPL19,intron_variant,,ENST00000453233,;MRPL19,intron_variant,,ENST00000492255,;MRPL19,intron_variant,,ENST00000409374,;MRPL19,intron_variant,,ENST00000358788,;GCFC2,upstream_gene_variant,,ENST00000492826,;RP11-342K6.2,non_coding_transcript_exon_variant,,ENST00000604219,;GCFC2,3_prime_UTR_variant,,ENST00000472230,;GCFC2,non_coding_transcript_exon_variant,,ENST00000470197,;GCFC2,upstream_gene_variant,,ENST00000470285,;	2116	57	42	SUCCESS
CTNNA2	1496	.	GRCh37	2	80782957	80782957	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	8	80	0	ENST00000402739.4:c.1680C>G	p.Asn560Lys	p.N560K	ENST00000402739	NM_001282597.1	560	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS42703.2	1680	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAACTATGA	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000418191	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.936)	.	tolerated(0.05)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Asn560Lys,ENST00000496558,;CTNNA2,missense_variant,p.Asn594Lys,ENST00000361291,;CTNNA2,missense_variant,p.Asn560Lys,ENST00000541047,;CTNNA2,missense_variant,p.Asn239Lys,ENST00000343114,;CTNNA2,missense_variant,p.Asn560Lys,ENST00000540488,;CTNNA2,missense_variant,p.Asn560Lys,ENST00000466387,;CTNNA2,missense_variant,p.Asn560Lys,ENST00000402739,;CTNNA2,downstream_gene_variant,,ENST00000409550,;	2404	80	76	SUCCESS
RBP1	5947	.	GRCh37	3	139258616	139258616	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	37	0	ENST00000232219.2:c.-56C>T		p.*19*	ENST00000232219	NM_002899.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3110.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCGAAGGG	NONE	.	.	.	.	.	ENSP00000232219	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000232219	Transcript	.	.	ENSG00000114115	9919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RBP1	HGNC	.	.	UPI000020A341	SNV	RBP1,5_prime_UTR_variant,,ENST00000492918,;RBP1,5_prime_UTR_variant,,ENST00000232219,;RBP1,upstream_gene_variant,,ENST00000483943,;RP11-319G6.1,intron_variant,,ENST00000515247,;RP11-319G6.1,upstream_gene_variant,,ENST00000381790,;RBP1,upstream_gene_variant,,ENST00000487424,;	56	37	24	SUCCESS
IL12A	3592	.	GRCh37	3	159710887	159710887	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	78	0	ENST00000305579.2:c.353C>T	p.Ala118Val	p.A118V	ENST00000305579	NM_000882.3	118	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3187.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCTGTT	NONE	.	.	hmmpanther:PTHR10523,Pfam_domain:PF03039,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	.	.	ENSP00000303231	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000305579	Transcript	.	.	ENSG00000168811	5969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	IL12A_HUMAN	IL12A	HGNC	Q7LDP2_HUMAN,O60595_HUMAN	.	UPI0000073D3D	SNV	IL12A,missense_variant,p.Ala118Val,ENST00000466512,;IL12A,missense_variant,p.Ala118Val,ENST00000305579,;IL12A,intron_variant,,ENST00000480787,;IL12A-AS1,intron_variant,,ENST00000497452,;IL12A,non_coding_transcript_exon_variant,,ENST00000468862,;IL12A,non_coding_transcript_exon_variant,,ENST00000496308,;IL12A,downstream_gene_variant,,ENST00000480088,;	660	78	83	SUCCESS
TBL1XR1	79718	.	GRCh37	3	176755936	176755936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	197	37	189	0	ENST00000430069.1:c.1072G>T	p.Asp358Tyr	p.D358Y	ENST00000430069		358	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS46961.1	1072	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTCCCATT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22846:SF37,hmmpanther:PTHR22846,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000405574	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000430069	Transcript	.	.	ENSG00000177565	29529	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TBL1R_HUMAN	TBL1XR1	HGNC	C9JY82_HUMAN,C9JTW8_HUMAN,C9JLJ1_HUMAN,C9JEC9_HUMAN,C9JCW4_HUMAN,C9JCK0_HUMAN,C9JBN1_HUMAN,C9J903_HUMAN,C9J7E1_HUMAN,C9J3H2_HUMAN,C9IYU9_HUMAN	.	UPI0000136A71	SNV	TBL1XR1,missense_variant,p.Asp358Tyr,ENST00000457928,;TBL1XR1,missense_variant,p.Asp358Tyr,ENST00000430069,;	1332	189	235	SUCCESS
LSG1	55341	.	GRCh37	3	194371616	194371616	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	39	0	ENST00000265245.5:c.1413A>G	p.Val471=	p.V471=	ENST00000265245	NM_018385.2	471	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS33922.1	1413	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATACAGG	NONE	.	.	hmmpanther:PTHR11089:SF7,hmmpanther:PTHR11089,Superfamily_domains:SSF52540	.	.	ENSP00000265245	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000265245	Transcript	.	.	ENSG00000041802	25652	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LSG1_HUMAN	LSG1	HGNC	.	.	UPI0000DBEEC1	SNV	LSG1,synonymous_variant,p.%3D,ENST00000437613,;LSG1,synonymous_variant,p.%3D,ENST00000265245,;AC046143.2,downstream_gene_variant,,ENST00000582474,;LSG1,non_coding_transcript_exon_variant,,ENST00000461343,;LSG1,non_coding_transcript_exon_variant,,ENST00000466391,;LSG1,upstream_gene_variant,,ENST00000460584,;LSG1,upstream_gene_variant,,ENST00000475763,;	1728	39	68	SUCCESS
ZNF385D	79750	.	GRCh37	3	21462713	21462713	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	36	0	ENST00000281523.2:c.1181C>T	p.Pro394Leu	p.P394L	ENST00000281523	NM_024697.2	394	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS2636.1	1181	RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAGGAGCA	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12	.	.	ENSP00000281523	.	8/8	.	.	.	.	.	.	.	.	COSM3592037	8/8	PASS	ENST00000281523	Transcript	.	.	ENSG00000151789	26191	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.981)	.	deleterious(0)	1	Z385D_HUMAN	ZNF385D	HGNC	.	.	UPI00000724AC	SNV	ZNF385D,missense_variant,p.Pro394Leu,ENST00000281523,;ZNF385D,downstream_gene_variant,,ENST00000467140,;	1700	36	52	SUCCESS
IL5RA	3568	.	GRCh37	3	3131916	3131916	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	26	144	0	ENST00000256452.3:c.994+1992A>G		p.*332*	ENST00000256452	NM_000564.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2559.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGTTAT	NONE	.	.	.	.	.	ENSP00000412209	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446632	Transcript	.	.	ENSG00000091181	6017	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL5RA_HUMAN	IL5RA	HGNC	C9J6C4_HUMAN,C9J3K8_HUMAN	.	UPI000013C656	SNV	IL5RA,3_prime_UTR_variant,,ENST00000311981,;IL5RA,3_prime_UTR_variant,,ENST00000383846,;IL5RA,intron_variant,,ENST00000418488,;IL5RA,intron_variant,,ENST00000445864,;IL5RA,intron_variant,,ENST00000256452,;IL5RA,intron_variant,,ENST00000446632,;IL5RA,intron_variant,,ENST00000438560,;IL5RA,downstream_gene_variant,,ENST00000430514,;IL5RA,downstream_gene_variant,,ENST00000456302,;	.	144	138	SUCCESS
CELSR3	1951	.	GRCh37	3	48696462	48696462	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	62	0	ENST00000164024.4:c.3606C>T	p.Val1202=	p.V1202=	ENST00000164024	NM_001407.2	1202	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2775.1	3606	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGAGACATC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38	.	.	ENSP00000164024	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,synonymous_variant,p.%3D,ENST00000544264,;CELSR3,synonymous_variant,p.%3D,ENST00000164024,;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	3887	62	66	SUCCESS
FLNB	2317	.	GRCh37	3	58089691	58089691	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	90	0	ENST00000295956.4:c.1489C>T	p.Leu497=	p.L497=	ENST00000295956	NM_001457.3	497	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54599.1	1489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTCTGGAG	NONE	.	.	PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	.	.	ENSP00000420213	.	10/47	.	.	.	.	.	.	.	.	.	10/47	PASS	ENST00000490882	Transcript	.	.	ENSG00000136068	3755	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNB_HUMAN	FLNB	HGNC	.	.	UPI0001765F91	SNV	FLNB,synonymous_variant,p.%3D,ENST00000429972,;FLNB,synonymous_variant,p.%3D,ENST00000295956,;FLNB,synonymous_variant,p.%3D,ENST00000348383,;FLNB,synonymous_variant,p.%3D,ENST00000493452,;FLNB,synonymous_variant,p.%3D,ENST00000358537,;FLNB,synonymous_variant,p.%3D,ENST00000490882,;FLNB,synonymous_variant,p.%3D,ENST00000419752,;FLNB,synonymous_variant,p.%3D,ENST00000357272,;	1654	90	67	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64133075	64133075	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372367565	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	59	0	ENST00000295902.6:c.1091G>T	p.Arg364Leu	p.R364L	ENST00000295902	NM_198859.3	364	cGg/cTg	0	T:0.0002	.	.	.	.	A	R/L	protein_coding	YES	CCDS2902.1	1091	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCGGTTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218	.	T:0	ENSP00000295902	.	7/8	.	.	.	.	.	.	.	.	rs372367565	7/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.815)	.	tolerated(0.2)	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,missense_variant,p.Arg364Leu,ENST00000295902,;PRICKLE2,missense_variant,p.Arg420Leu,ENST00000564377,;	1677	59	62	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64633684	64633684	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	21	0	ENST00000498707.1:c.1642G>C	p.Gly548Arg	p.G548R	ENST00000498707	NM_182920.1	548	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS2903.1	1642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCCATTGA	NONE	.	.	hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723	.	.	ENSP00000418735	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.12)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Gly520Arg,ENST00000295903,;ADAMTS9,missense_variant,p.Gly548Arg,ENST00000498707,;ADAMTS9,downstream_gene_variant,,ENST00000459780,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,downstream_gene_variant,,ENST00000467119,;	1985	21	32	SUCCESS
FRMD4B	23150	.	GRCh37	3	69246073	69246073	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	66	0	ENST00000398540.3:c.1070A>G	p.Tyr357Cys	p.Y357C	ENST00000398540	NM_015123.1	357	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46863.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGTAAAAC	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281,Pfam_domain:PF09380,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000381549	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000398540	Transcript	.	.	ENSG00000114541	24886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FRM4B_HUMAN	FRMD4B	HGNC	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN	.	UPI00001C1DF1	SNV	FRMD4B,missense_variant,p.Tyr357Cys,ENST00000398540,;FRMD4B,missense_variant,p.Tyr303Cys,ENST00000542259,;FRMD4B,missense_variant,p.Tyr9Cys,ENST00000489817,;FRMD4B,missense_variant,p.Tyr68Cys,ENST00000462512,;FRMD4B,missense_variant,p.Tyr9Cys,ENST00000478263,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000497475,;FRMD4B,downstream_gene_variant,,ENST00000483668,;FRMD4B,downstream_gene_variant,,ENST00000487751,;FRMD4B,downstream_gene_variant,,ENST00000470070,;	1154	66	51	SUCCESS
LARP1B	55132	.	GRCh37	4	128999091	128999091	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	43	271	0	ENST00000326639.6:c.191C>G	p.Ala64Gly	p.A64G	ENST00000326639	NM_018078.3	64	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS3738.1	191	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCTCAGT	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50	.	.	ENSP00000321997	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.12)	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	SNV	LARP1B,missense_variant,p.Ala64Gly,ENST00000432347,;LARP1B,missense_variant,p.Ala64Gly,ENST00000441387,;LARP1B,missense_variant,p.Ala64Gly,ENST00000512292,;LARP1B,missense_variant,p.Ala64Gly,ENST00000427266,;LARP1B,missense_variant,p.Ala64Gly,ENST00000264584,;LARP1B,missense_variant,p.Ala64Gly,ENST00000326639,;LARP1B,missense_variant,p.Ala64Gly,ENST00000394288,;LARP1B,missense_variant,p.Ala33Gly,ENST00000507377,;LARP1B,missense_variant,p.Ala64Gly,ENST00000508819,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;	402	271	266	SUCCESS
FGFR3	2261	.	GRCh37	4	1803246	1803246	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs886043613	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	43	0	ENST00000260795.2:c.598C>T	p.Arg200Cys	p.R200C	ENST00000260795		200	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS54706.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACCGCATT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF128,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF000628,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000339824	.	5/18	.	.	.	.	.	.	.	.	CM066080	5/18	PASS	ENST00000340107	Transcript	1	.	ENSG00000068078	3690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious(0)	.	FGFR3_HUMAN	FGFR3	HGNC	Q8NI16_HUMAN	.	UPI000002A9AC	SNV	FGFR3,missense_variant,p.Arg200Cys,ENST00000352904,;FGFR3,missense_variant,p.Arg200Cys,ENST00000412135,;FGFR3,missense_variant,p.Arg200Cys,ENST00000440486,;FGFR3,missense_variant,p.Arg200Cys,ENST00000481110,;FGFR3,missense_variant,p.Arg200Cys,ENST00000260795,;FGFR3,missense_variant,p.Arg20Cys,ENST00000507588,;FGFR3,missense_variant,p.Arg200Cys,ENST00000340107,;FGFR3,upstream_gene_variant,,ENST00000474521,;FGFR3,upstream_gene_variant,,ENST00000469068,;	854	43	42	SUCCESS
TLR3	7098	.	GRCh37	4	186998195	186998195	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	21	96	0	ENST00000296795.3:c.422A>G	p.Asn141Ser	p.N141S	ENST00000296795	NM_003265.2	141	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3846.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAATCCCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000296795	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000296795	Transcript	1	.	ENSG00000164342	11849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.04)	.	TLR3_HUMAN	TLR3	HGNC	E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN	.	UPI0000049B3E	SNV	TLR3,missense_variant,p.Asn141Ser,ENST00000513189,;TLR3,missense_variant,p.Asn141Ser,ENST00000296795,;TLR3,upstream_gene_variant,,ENST00000504367,;TLR3,upstream_gene_variant,,ENST00000508051,;TLR3,upstream_gene_variant,,ENST00000512264,;	526	96	127	SUCCESS
HGFAC	3083	.	GRCh37	4	3449280	3449280	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs560293902	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	38	217	0	ENST00000382774.3:c.1417G>A	p.Val473Met	p.V473M	ENST00000382774	NM_001528.2	473	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS3369.1	1417	RADIA|MUTECT|MUSE|VARSCANS	.	CGGACGTGACG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF11,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF001146,Superfamily_domains:SSF50494	.	.	ENSP00000372224	.	11/14	.	.	.	.	.	.	.	.	rs560293902,COSM1209632	11/14	PASS	ENST00000382774	Transcript	.	.	ENSG00000109758	4894	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.994)	.	tolerated(0.15)	0,1	HGFA_HUMAN	HGFAC	HGNC	.	.	UPI0000000826	SNV	HGFAC,missense_variant,p.Val473Met,ENST00000382774,;HGFAC,missense_variant,p.Val480Met,ENST00000511533,;HGFAC,non_coding_transcript_exon_variant,,ENST00000506132,;HGFAC,non_coding_transcript_exon_variant,,ENST00000509689,;	1532	217	243	SUCCESS
ENOPH1	58478	.	GRCh37	4	83372214	83372214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	65	0	ENST00000273920.3:c.205C>A	p.Leu69Met	p.L69M	ENST00000273920	NM_021204.3	69	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS3594.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTGGAT	NONE	.	.	HAMAP:MF_03117,HAMAP:MF_01681,hmmpanther:PTHR20371,TIGRFAM_domain:TIGR01691,Pfam_domain:PF13419,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	.	.	ENSP00000273920	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000273920	Transcript	.	.	ENSG00000145293	24599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	tolerated(0.08)	.	ENOPH_HUMAN	ENOPH1	HGNC	D6RA00_HUMAN	.	UPI000006D6DB	SNV	ENOPH1,missense_variant,p.Leu69Met,ENST00000273920,;ENOPH1,5_prime_UTR_variant,,ENST00000509635,;ENOPH1,intron_variant,,ENST00000505846,;	473	65	78	SUCCESS
PJA2	9867	.	GRCh37	5	108714881	108714881	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143063686	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	82	0	ENST00000361189.2:c.307C>A	p.Pro103Thr	p.P103T	ENST00000361189	NM_014819.4	103	Ccc/Acc	0	A:0.0002	.	.	.	.	T	P/T	protein_coding	YES	CCDS4099.1	307	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGAATTT	NONE	byCluster	.	hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5	.	A:0	ENSP00000354775	.	4/10	.	.	.	.	.	.	.	.	rs143063686	4/10	PASS	ENST00000361189	Transcript	.	.	ENSG00000198961	17481	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.341)	.	deleterious(0.02)	.	PJA2_HUMAN	PJA2	HGNC	.	.	UPI000013D192	SNV	PJA2,missense_variant,p.Pro103Thr,ENST00000361189,;PJA2,missense_variant,p.Pro103Thr,ENST00000361557,;PJA2,non_coding_transcript_exon_variant,,ENST00000511624,;PJA2,downstream_gene_variant,,ENST00000512822,;	547	82	73	SUCCESS
APC	324	.	GRCh37	5	112179045	112179045	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	61	0	ENST00000257430.4:c.7754A>T	p.Lys2585Ile	p.K2585I	ENST00000257430	NM_000038.5	2585	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS4107.1	7754	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAAAAAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	.	.	ENSP00000413133	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000457016	Transcript	1	.	ENSG00000134982	583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.905)	.	.	.	APC_HUMAN	APC	HGNC	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN	.	UPI000013CF60	SNV	APC,missense_variant,p.Lys2585Ile,ENST00000457016,;APC,missense_variant,p.Lys2585Ile,ENST00000257430,;APC,missense_variant,p.Lys2585Ile,ENST00000508376,;APC,downstream_gene_variant,,ENST00000507379,;APC,downstream_gene_variant,,ENST00000512211,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000508624,;	8134	61	51	SUCCESS
AP3S1	1176	.	GRCh37	5	115249176	115249176	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	11	193	0	ENST00000316788.7:c.571T>C	p.Ser191Pro	p.S191P	ENST00000316788	NM_001284.2	191	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS4123.1	571	MUTECT|MUSE	.	TGCCCTCTTTT	NONE	.	.	.	.	.	ENSP00000325369	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000316788	Transcript	.	.	ENSG00000177879	2013	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.04)	.	AP3S1_HUMAN	AP3S1	HGNC	.	.	UPI000002236E	SNV	AP3S1,missense_variant,p.Ser191Pro,ENST00000316788,;AP3S1,non_coding_transcript_exon_variant,,ENST00000505423,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;AP3S1,downstream_gene_variant,,ENST00000506430,;	1128	193	174	SUCCESS
SLC6A19	340024	.	GRCh37	5	1216776	1216776	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1408934525	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	55	0	ENST00000304460.10:c.991C>A	p.Gln331Lys	p.Q331K	ENST00000304460	NM_001003841.2	331	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS34130.1	991	RADIA|MUTECT|MUSE|VARSCANS	.	CCACACAGCGC	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR01206	.	.	ENSP00000305302	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000304460	Transcript	1	.	ENSG00000174358	27960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.33)	.	S6A19_HUMAN	SLC6A19	HGNC	B3KVZ8_HUMAN	.	UPI0000401AF8	SNV	SLC6A19,missense_variant,p.Gln331Lys,ENST00000304460,;SLC6A19,missense_variant,p.Thr300Lys,ENST00000515652,;	1047	55	59	SUCCESS
CEP120	153241	.	GRCh37	5	122725745	122725748	+	frameshift_variant	Frame_Shift_Del	DEL	AGTA	AGTA	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	AGTA	AGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	116	26	135	0	ENST00000306467.5:c.1125_1128del	p.Thr376GlyfsTer54	p.T376Gfs*54	ENST00000306467		375	ctTACT/ct	0	.	.	.	.	.	-	LT/X	protein_coding	YES	CCDS4134.2	1125-1128	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCCCAGTAAGTGT	NONE	.	.	hmmpanther:PTHR21574	.	.	ENSP00000303058	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000306467	Transcript	1	.	ENSG00000168944	26690	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE120_HUMAN	CEP120	HGNC	F8VRV0_HUMAN,D6REX9_HUMAN,D6RC69_HUMAN	.	UPI0000D79C73	deletion	CEP120,frameshift_variant,p.Thr350GlyfsTer54,ENST00000508442,;CEP120,frameshift_variant,p.Thr376GlyfsTer54,ENST00000306467,;CEP120,frameshift_variant,p.Thr376GlyfsTer54,ENST00000328236,;CEP120,frameshift_variant,p.Thr350GlyfsTer54,ENST00000306481,;CEP120,downstream_gene_variant,,ENST00000395431,;CEP120,3_prime_UTR_variant,,ENST00000513565,;CEP120,3_prime_UTR_variant,,ENST00000508138,;CEP120,downstream_gene_variant,,ENST00000503049,;	1430-1433	135	142	SUCCESS
RAPGEF6	51735	.	GRCh37	5	130778169	130778169	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1460461874	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	122	0	ENST00000509018.1:c.3483G>T	p.Met1161Ile	p.M1161I	ENST00000509018	NM_016340.5	1161	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS54900.1	3507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTCATAGG	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF171	.	.	ENSP00000296859	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000296859	Transcript	.	.	ENSG00000158987	20655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.58)	.	RPGF6_HUMAN	RAPGEF6	HGNC	D6RB02_HUMAN	.	UPI000189A836	SNV	RAPGEF6,missense_variant,p.Met884Ile,ENST00000512052,;RAPGEF6,missense_variant,p.Met1174Ile,ENST00000307984,;RAPGEF6,missense_variant,p.Met1169Ile,ENST00000507093,;CTC-432M15.3,missense_variant,p.Met1211Ile,ENST00000514667,;RAPGEF6,missense_variant,p.Met1169Ile,ENST00000296859,;RAPGEF6,missense_variant,p.Met1161Ile,ENST00000509018,;RAPGEF6,missense_variant,p.Met1161Ile,ENST00000308008,;RAPGEF6,missense_variant,p.Met1161Ile,ENST00000515170,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000512611,;	3588	122	122	SUCCESS
PCDH1	5097	.	GRCh37	5	141248931	141248931	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772869932	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	11	0	ENST00000394536.3:c.106C>T	p.Arg36Trp	p.R36W	ENST00000394536	NM_002587.4	36	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4267.1	106	MUTECT|MUSE	.	TAGCCGTTGCC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000287008	.	2/5	.	.	.	.	.	.	.	.	rs772869932	2/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.266)	.	deleterious_low_confidence(0.01)	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,missense_variant,p.Arg14Trp,ENST00000536585,;PCDH1,missense_variant,p.Arg14Trp,ENST00000514773,;PCDH1,missense_variant,p.Arg36Trp,ENST00000456271,;PCDH1,missense_variant,p.Arg36Trp,ENST00000287008,;PCDH1,missense_variant,p.Arg36Trp,ENST00000503492,;PCDH1,missense_variant,p.Arg36Trp,ENST00000394536,;PCDH1,missense_variant,p.Arg47Trp,ENST00000357517,;PCDH1,upstream_gene_variant,,ENST00000511044,;PCDH1,upstream_gene_variant,,ENST00000505937,;PCDH1,upstream_gene_variant,,ENST00000515351,;	254	11	19	SUCCESS
SPINK5	11005	.	GRCh37	5	147481371	147481371	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	87	0	ENST00000256084.7:c.1330A>T	p.Arg444Trp	p.R444W	ENST00000256084	NM_006846.3	444	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS47300.1	1330	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCAGGAAA	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Gene3D:1.10.1890.10,SMART_domains:SM00280,Superfamily_domains:SSF100895	.	.	ENSP00000352936	.	15/34	.	.	.	.	.	.	.	.	.	15/34	PASS	ENST00000359874	Transcript	1	.	ENSG00000133710	15464	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.067)	.	tolerated(0.11)	.	ISK5_HUMAN	SPINK5	HGNC	.	.	UPI000020CF25	SNV	SPINK5,missense_variant,p.Arg444Trp,ENST00000256084,;SPINK5,missense_variant,p.Arg425Trp,ENST00000508733,;SPINK5,missense_variant,p.Arg444Trp,ENST00000398454,;SPINK5,missense_variant,p.Arg444Trp,ENST00000359874,;SPINK5,downstream_gene_variant,,ENST00000481286,;SPINK5,downstream_gene_variant,,ENST00000476608,;SPINK5,non_coding_transcript_exon_variant,,ENST00000507988,;	1403	87	87	SUCCESS
SMIM3	85027	.	GRCh37	5	150175051	150175051	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	33	0	ENST00000526627.1:c.49A>G	p.Ile17Val	p.I17V	ENST00000526627	NM_032947.4	17	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS47312.2	49	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACATCCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000436897	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000526627	Transcript	.	.	ENSG00000256235	30248	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.23)	.	SMIM3_HUMAN	SMIM3	HGNC	.	.	UPI0000073103	SNV	SMIM3,missense_variant,p.Ile17Val,ENST00000526627,;AC010441.1,3_prime_UTR_variant,,ENST00000600109,;	1087	33	38	SUCCESS
TIMD4	91937	.	GRCh37	5	156375492	156375492	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	66	0	ENST00000274532.2:c.779T>A	p.Leu260His	p.L260H	ENST00000274532	NM_138379.2	260	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS4332.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGAGATCC	NONE	.	.	hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498	.	.	ENSP00000274532	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000274532	Transcript	.	.	ENSG00000145850	25132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.16)	.	TIMD4_HUMAN	TIMD4	HGNC	B5MCV9_HUMAN	.	UPI000013DA13	SNV	TIMD4,missense_variant,p.Leu260His,ENST00000274532,;TIMD4,intron_variant,,ENST00000407087,;	836	66	71	SUCCESS
FAM153B	202134	.	GRCh37	5	175525512	175525512	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	35	402	0	ENST00000253490.4:c.488C>A	p.Ala163Glu	p.A163E	ENST00000253490		163	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS43401.2	257	RADIA|MUSE|VARSCANS	.	TATAGCAGAAC	NONE	.	.	.	.	.	ENSP00000427684	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000515817	Transcript	.	.	ENSG00000182230	27323	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.765)	.	deleterious_low_confidence(0.01)	.	.	FAM153B	HGNC	H0YL08_HUMAN,D6RF84_HUMAN,D6RA46_HUMAN	.	UPI00001D7EF3	SNV	FAM153B,missense_variant,p.Ala163Glu,ENST00000253490,;FAM153B,missense_variant,p.Ala75Glu,ENST00000503724,;FAM153B,missense_variant,p.Ala86Glu,ENST00000510151,;FAM153B,missense_variant,p.Ala86Glu,ENST00000515817,;FAM153B,intron_variant,,ENST00000512862,;FAM153B,non_coding_transcript_exon_variant,,ENST00000393522,;FAM153B,downstream_gene_variant,,ENST00000503533,;FAM153B,missense_variant,p.Ala86Glu,ENST00000508296,;	541	403	383	SUCCESS
PDZD2	23037	.	GRCh37	5	32074465	32074465	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761987954	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	62	0	ENST00000438447.1:c.3253C>T	p.Pro1085Ser	p.P1085S	ENST00000438447		1085	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS34137.1	3253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCACCCAAA	NONE	.	.	hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	.	.	ENSP00000402033	.	18/25	.	.	.	.	.	.	.	.	rs761987954	18/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,missense_variant,p.Pro1085Ser,ENST00000438447,;PDZD2,missense_variant,p.Pro1085Ser,ENST00000282493,;PDZD2,downstream_gene_variant,,ENST00000513184,;PDZD2,upstream_gene_variant,,ENST00000503961,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	3641	62	56	SUCCESS
RASGRF2	5924	.	GRCh37	5	80376525	80376525	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1170821278	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	15	104	0	ENST00000265080.4:c.1078G>A	p.Asp360Asn	p.D360N	ENST00000265080	NM_006909.2	360	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS4052.1	1078	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTGACAAA	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187,PROSITE_profiles:PS50010	.	.	ENSP00000265080	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000265080	Transcript	.	.	ENSG00000113319	9876	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	tolerated(0.21)	.	RGRF2_HUMAN	RASGRF2	HGNC	Q68DX5_HUMAN	.	UPI0000047ABF	SNV	RASGRF2,missense_variant,p.Asp360Asn,ENST00000265080,;RASGRF2,non_coding_transcript_exon_variant,,ENST00000502677,;RASGRF2,missense_variant,p.Asp360Asn,ENST00000503795,;	1145	104	108	SUCCESS
XRCC4	7518	.	GRCh37	5	82649043	82649043	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	53	223	0	ENST00000338635.6:c.993C>T	p.Asp331=	p.D331=	ENST00000338635		331	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS4059.1	993	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACCTCTT	NONE	.	.	Pfam_domain:PF06632	.	.	ENSP00000421491	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000511817	Transcript	1	.	ENSG00000152422	12831	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	XRCC4_HUMAN	XRCC4	HGNC	.	.	UPI000006DF4E	SNV	XRCC4,synonymous_variant,p.%3D,ENST00000338635,;XRCC4,synonymous_variant,p.%3D,ENST00000511817,;XRCC4,synonymous_variant,p.%3D,ENST00000282268,;XRCC4,synonymous_variant,p.%3D,ENST00000396027,;	1073	223	245	SUCCESS
ATG5	9474	.	GRCh37	6	106634468	106634468	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	40	0	ENST00000343245.3:c.775A>C	p.Ser259Arg	p.S259R	ENST00000343245	NM_001286106.1	259	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS5055.1	775	RADIA|MUTECT|MUSE	.	GTAGCTCAGAT	NONE	.	.	hmmpanther:PTHR13040:SF2,hmmpanther:PTHR13040,Pfam_domain:PF04106	.	.	ENSP00000358072	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369076	Transcript	.	.	ENSG00000057663	589	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ATG5_HUMAN	ATG5	HGNC	A9UGY9_HUMAN	.	UPI0000125C62	SNV	ATG5,missense_variant,p.Ser259Arg,ENST00000343245,;ATG5,missense_variant,p.Ser181Arg,ENST00000369070,;ATG5,missense_variant,p.Ser259Arg,ENST00000369076,;ATG5,3_prime_UTR_variant,,ENST00000360666,;ATG5,non_coding_transcript_exon_variant,,ENST00000475645,;	1099	40	37	SUCCESS
ATG5	9474	.	GRCh37	6	106634473	106634473	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748346595	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	39	0	ENST00000343245.3:c.770A>G	p.His257Arg	p.H257R	ENST00000343245	NM_001286106.1	257	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS5055.1	770	RADIA|MUTECT|MUSE	.	TCAGATGTTCA	NONE	.	.	hmmpanther:PTHR13040:SF2,hmmpanther:PTHR13040,Pfam_domain:PF04106	.	.	ENSP00000358072	.	8/8	.	.	.	.	.	.	.	.	rs748346595	8/8	PASS	ENST00000369076	Transcript	.	.	ENSG00000057663	589	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATG5_HUMAN	ATG5	HGNC	A9UGY9_HUMAN	.	UPI0000125C62	SNV	ATG5,missense_variant,p.His257Arg,ENST00000343245,;ATG5,missense_variant,p.His179Arg,ENST00000369070,;ATG5,missense_variant,p.His257Arg,ENST00000369076,;ATG5,3_prime_UTR_variant,,ENST00000360666,;ATG5,non_coding_transcript_exon_variant,,ENST00000475645,;	1094	39	38	SUCCESS
REV3L	5980	.	GRCh37	6	111670435	111670435	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749050093	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	105	0	ENST00000358835.3:c.7405A>G	p.Ile2469Val	p.I2469V	ENST00000358835		2469	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5091.2	7405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATTCTCC	NONE	.	.	Superfamily_domains:SSF53098,SMART_domains:SM00486,Gene3D:3.30.420.10,Pfam_domain:PF03104,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	21/33	.	.	.	.	.	.	.	.	rs749050093	21/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.45)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Ile2469Val,ENST00000358835,;REV3L,missense_variant,p.Ile2469Val,ENST00000368802,;REV3L,missense_variant,p.Ile2469Val,ENST00000368805,;REV3L,missense_variant,p.Ile2391Val,ENST00000435970,;REV3L,3_prime_UTR_variant,,ENST00000413831,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,non_coding_transcript_exon_variant,,ENST00000492520,;FCF1P5,upstream_gene_variant,,ENST00000406490,;	7860	105	85	SUCCESS
ZC3H12D	340152	.	GRCh37	6	149777857	149777857	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	47	0	ENST00000409806.3:c.625G>T	p.Glu209Ter	p.E209*	ENST00000409806		209	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	.	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCGGGGT	NONE	.	.	hmmpanther:PTHR12876:SF11,hmmpanther:PTHR12876,Pfam_domain:PF11977	.	.	ENSP00000386616	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000409806	Transcript	.	.	ENSG00000178199	21175	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC12D_HUMAN	ZC3H12D	HGNC	.	.	UPI00002377F7	SNV	ZC3H12D,stop_gained,p.Glu209Ter,ENST00000416573,;ZC3H12D,stop_gained,p.Glu209Ter,ENST00000542614,;ZC3H12D,stop_gained,p.Glu51Ter,ENST00000458251,;ZC3H12D,stop_gained,p.Glu209Ter,ENST00000409806,;ZC3H12D,stop_gained,p.Glu209Ter,ENST00000389942,;ZC3H12D,downstream_gene_variant,,ENST00000409948,;ZC3H12D,downstream_gene_variant,,ENST00000462655,;	944	47	31	SUCCESS
PHF10	55274	.	GRCh37	6	170116083	170116083	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs140258100	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	27	225	0	ENST00000339209.4:c.511C>T	p.Gln171Ter	p.Q171*	ENST00000339209	NM_133325.2	171	Caa/Taa	0	C:0	.	.	.	.	A	Q/*	protein_coding	YES	CCDS5308.2	511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTTGACGTT	NONE	.	.	hmmpanther:PTHR10615	.	C:0.0001	ENSP00000341805	.	5/12	.	.	.	.	.	.	.	.	rs140258100	5/12	PASS	ENST00000339209	Transcript	.	.	ENSG00000130024	18250	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF10_HUMAN	PHF10	HGNC	S5FMB0_HUMAN	.	UPI0000EE1F6E	SNV	PHF10,stop_gained,p.Gln169Ter,ENST00000366780,;PHF10,stop_gained,p.Gln171Ter,ENST00000339209,;PHF10,downstream_gene_variant,,ENST00000464779,;PHF10,non_coding_transcript_exon_variant,,ENST00000480008,;	635	225	162	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056228	26056228	+	synonymous_variant	Silent	SNP	G	G	A	rs762871933	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	17	88	0	ENST00000343677.2:c.429C>T	p.Gly143=	p.G143=	ENST00000343677	NM_005319.3	143	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS4577.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCGCCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467	.	.	ENSP00000339566	.	1/1	.	.	.	.	.	.	.	.	rs762871933	1/1	PASS	ENST00000343677	Transcript	.	.	ENSG00000187837	4716	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,synonymous_variant,p.%3D,ENST00000343677,;	472	88	89	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056229	26056229	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768727221	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	88	0	ENST00000343677.2:c.428G>T	p.Gly143Val	p.G143V	ENST00000343677	NM_005319.3	143	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4577.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGCCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467	.	.	ENSP00000339566	.	1/1	.	.	.	.	.	.	.	.	rs768727221	1/1	PASS	ENST00000343677	Transcript	.	.	ENSG00000187837	4716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,missense_variant,p.Gly143Val,ENST00000343677,;	471	88	89	SUCCESS
DNAH8	1769	.	GRCh37	6	38775436	38775436	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	94	0	ENST00000359357.3:c.2550T>A	p.Leu850=	p.L850=	ENST00000359357		850	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	.	2550	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTCAAAA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	22/91	.	.	.	.	.	.	.	.	.	22/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,synonymous_variant,p.%3D,ENST00000359357,;DNAH8,synonymous_variant,p.%3D,ENST00000327475,;DNAH8,synonymous_variant,p.%3D,ENST00000441566,;DNAH8,synonymous_variant,p.%3D,ENST00000449981,;	2804	94	115	SUCCESS
PRIM2	5558	.	GRCh37	6	57393173	57393173	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	5	104	0	ENST00000607273.1:c.823C>G	p.Gln275Glu	p.Q275E	ENST00000607273	NM_000947.3	275	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	.	823	MUTECT|MUSE	.	TAGATCAGATT	NONE	.	.	hmmpanther:PTHR10537:SF3,hmmpanther:PTHR10537,Pfam_domain:PF04104	.	.	ENSP00000475738	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.476)	.	tolerated(0.08)	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,missense_variant,p.Gln275Glu,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000470638,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;PRIM2,non_coding_transcript_exon_variant,,ENST00000550475,;	910	104	82	SUCCESS
MUC17	140453	.	GRCh37	7	100683668	100683668	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1430406936	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	55	0	ENST00000306151.4:c.8971A>T	p.Ser2991Cys	p.S2991C	ENST00000306151	NM_001040105.1	2991	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34711.1	8971	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAAGTATG	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Ser2991Cys,ENST00000306151,;MUC17,missense_variant,p.Ser2991Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	9035	55	63	SUCCESS
MUC17	140453	.	GRCh37	7	100695190	100695191	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	106	14	84	0	ENST00000306151.4:c.13052dup	p.Asn4352GlufsTer3	p.N4352Efs*3	ENST00000306151	NM_001040105.1	4350	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS34711.1	13050-13051	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTCCAAGAA	NONE	.	.	.	.	.	ENSP00000302716	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	insertion	MUC17,frameshift_variant,p.Asn4352GlufsTer3,ENST00000306151,;MUC17,3_prime_UTR_variant,,ENST00000379439,;MUC17,downstream_gene_variant,,ENST00000470303,;MUC17,upstream_gene_variant,,ENST00000497859,;	13114-13115	84	120	SUCCESS
LAMB1	3912	.	GRCh37	7	107616134	107616134	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	rs768323491	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	64	0	ENST00000222399.6:c.1189C>T	p.Arg397Ter	p.R397*	ENST00000222399	NM_002291.2	397	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5750.1	1189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACGTTCAC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF233,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10	.	.	ENSP00000222399	.	10/34	.	.	.	.	.	.	.	.	rs768323491	10/34	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	SNV	LAMB1,stop_gained,p.Arg421Ter,ENST00000393561,;LAMB1,stop_gained,p.Arg397Ter,ENST00000393560,;LAMB1,stop_gained,p.Arg397Ter,ENST00000222399,;	1420	65	63	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117385885	117385885	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs1401288087	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	63	0	ENST00000160373.3:c.3535G>T	p.Ala1179Ser	p.A1179S	ENST00000160373	NM_033427.2	1179	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5774.1	3535	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCGCTAC	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.73)	.	deleterious(0.01)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Ala164Ser,ENST00000435233,;CTTNBP2,missense_variant,p.Ala667Ser,ENST00000446636,;CTTNBP2,missense_variant,p.Ala1179Ser,ENST00000160373,;CTTNBP2,splice_region_variant,,ENST00000441556,;	3627	63	63	SUCCESS
PAX4	5078	.	GRCh37	7	127255566	127255566	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	58	0	ENST00000341640.2:c.9G>T	p.Gln3His	p.Q3H	ENST00000341640	NM_006193.2	3	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS5797.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGCTGGTT	NONE	.	.	Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Gene3D:1.10.10.10,Pfam_domain:PF00292,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,PROSITE_profiles:PS51057	.	.	ENSP00000339906	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000341640	Transcript	.	.	ENSG00000106331	8618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,missense_variant,p.Gln11His,ENST00000338516,;PAX4,missense_variant,p.Gln3His,ENST00000378740,;PAX4,missense_variant,p.Gln3His,ENST00000341640,;PAX4,5_prime_UTR_variant,,ENST00000463946,;PAX4,5_prime_UTR_variant,,ENST00000483494,;PAX4,upstream_gene_variant,,ENST00000477423,;	215	58	53	SUCCESS
ATP6V1F	9296	.	GRCh37	7	128502911	128502911	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs746947613	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	19	4	ENST00000249289.4:c.-48T>G		p.*16*	ENST00000249289	NM_004231.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56511.1	.	MUTECT|MUSE	.	CGGGGTTTCAG	NONE	byFrequency	47	.	.	.	ENSP00000417378	.	.	.	.	.	.	.	.	.	.	rs746947613	.	PASS	ENST00000492758	Transcript	.	.	ENSG00000128524	16832	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VATF_HUMAN	ATP6V1F	HGNC	.	.	UPI000020FA6C	SNV	ATP6V1F,5_prime_UTR_variant,,ENST00000249289,;FLNC,downstream_gene_variant,,ENST00000346177,;FLNC,downstream_gene_variant,,ENST00000325888,;ATP6V1F,upstream_gene_variant,,ENST00000492758,;RP11-309L24.4,upstream_gene_variant,,ENST00000461420,;RP11-309L24.2,upstream_gene_variant,,ENST00000469965,;KCP,downstream_gene_variant,,ENST00000297801,;KCP,non_coding_transcript_exon_variant,,ENST00000492679,;	.	23	30	SUCCESS
ATP6V1F	9296	.	GRCh37	7	128505594	128505594	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	53	0	ENST00000249289.4:c.322A>T	p.Arg108Trp	p.R108W	ENST00000249289	NM_004231.3	108	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS56511.1	406	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCAGGGCC	NONE	.	.	Superfamily_domains:SSF159468,PIRSF_domain:PIRSF015945,Gene3D:3.40.50.10580,TIGRFAM_domain:TIGR01101,hmmpanther:PTHR13861:SF2,hmmpanther:PTHR13861	.	.	ENSP00000417378	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000492758	Transcript	.	.	ENSG00000128524	16832	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	VATF_HUMAN	ATP6V1F	HGNC	.	.	UPI000020FA6C	SNV	ATP6V1F,missense_variant,p.Arg136Trp,ENST00000492758,;ATP6V1F,missense_variant,p.Arg108Trp,ENST00000249289,;RP11-309L24.4,upstream_gene_variant,,ENST00000461420,;RP11-309L24.2,upstream_gene_variant,,ENST00000469965,;KCP,intron_variant,,ENST00000297801,;KCP,intron_variant,,ENST00000492679,;	407	53	63	SUCCESS
SSPO	0	.	GRCh37	7	149521651	149521651	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	24	0	ENST00000378016.2:n.13730A>T		p.*4577*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCACCGGC	NONE	.	.	.	.	.	.	.	95/109	.	.	.	.	.	.	.	.	.	95/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000493567,;SSPO,intron_variant,,ENST00000488835,;SSPO,intron_variant,,ENST00000461331,;SSPO,downstream_gene_variant,,ENST00000464974,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;	13730	24	26	SUCCESS
AOC1	26	.	GRCh37	7	150555959	150555959	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	20	144	0	ENST00000360937.4:c.1679C>T	p.Ser560Phe	p.S560F	ENST00000360937	NM_001091.3	560	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS43679.1	1679	RADIA|MUTECT|MUSE|VARSCANS	.	GTACTCCTGGG	NONE	.	.	hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Gene3D:2.70.98.20,Pfam_domain:PF01179,Superfamily_domains:SSF49998	.	.	ENSP00000418614	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000493429	Transcript	.	.	ENSG00000002726	80	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.09)	.	deleterious(0.05)	.	AOC1_HUMAN	AOC1	HGNC	C9J2J4_HUMAN,C9J0G8_HUMAN	.	UPI00001AF136	SNV	AOC1,missense_variant,p.Ser560Phe,ENST00000467291,;AOC1,missense_variant,p.Ser560Phe,ENST00000416793,;AOC1,missense_variant,p.Ser560Phe,ENST00000493429,;AOC1,missense_variant,p.Ser560Phe,ENST00000360937,;AOC1,downstream_gene_variant,,ENST00000483043,;AOC1,downstream_gene_variant,,ENST00000460213,;AOC1,non_coding_transcript_exon_variant,,ENST00000480582,;	2263	144	146	SUCCESS
AGMO	392636	.	GRCh37	7	15405237	15405237	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	18	89	0	ENST00000342526.3:c.1165del	p.Ala389GlnfsTer10	p.A389Qfs*10	ENST00000342526	NM_001004320.1	389	Gca/ca	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS34604.1	1165	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGCTGCCTTGG	NONE	.	.	hmmpanther:PTHR21624	.	.	ENSP00000341662	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000342526	Transcript	.	.	ENSG00000187546	33784	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALKMO_HUMAN	AGMO	HGNC	.	.	UPI0000050343	deletion	AGMO,frameshift_variant,p.Ala31GlnfsTer10,ENST00000418075,;AGMO,frameshift_variant,p.Ala389GlnfsTer10,ENST00000342526,;AGMO,frameshift_variant,p.Ala20GlnfsTer10,ENST00000407277,;	1335	89	106	SUCCESS
DNAJB6	10049	.	GRCh37	7	157208729	157208729	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	33	0	ENST00000262177.4:c.918G>A	p.Lys306=	p.K306=	ENST00000262177	NM_058246.3	306	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS5946.1	918	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGAGGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000262177	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262177	Transcript	.	.	ENSG00000105993	14888	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,synonymous_variant,p.%3D,ENST00000452797,;DNAJB6,synonymous_variant,p.%3D,ENST00000262177,;DNAJB6,synonymous_variant,p.%3D,ENST00000443280,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000494267,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000459889,;	1123	33	48	SUCCESS
ABCB5	340273	.	GRCh37	7	20685483	20685483	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	101	0	ENST00000404938.2:c.783C>A	p.Ala261=	p.A261=	ENST00000404938	NM_001163941.1	261	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS55090.1	783	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCCAGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50929,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000384881	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,synonymous_variant,p.%3D,ENST00000404938,;ABCB5,upstream_gene_variant,,ENST00000443026,;ABCB5,upstream_gene_variant,,ENST00000258738,;ABCB5,upstream_gene_variant,,ENST00000406935,;ABCB5,upstream_gene_variant,,ENST00000477094,;AC002486.3,upstream_gene_variant,,ENST00000435098,;	1435	101	114	SUCCESS
SDK1	221935	.	GRCh37	7	3998620	3998620	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	52	0	ENST00000404826.2:c.1208C>T	p.Thr403Ile	p.T403I	ENST00000404826	NM_152744.3	403	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS34590.1	1208	RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACTGTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	8/45	.	.	.	.	.	.	.	.	.	8/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.19)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Thr403Ile,ENST00000404826,;SDK1,missense_variant,p.Thr403Ile,ENST00000389531,;SDK1,downstream_gene_variant,,ENST00000426596,;	1347	52	52	SUCCESS
GLI3	2737	.	GRCh37	7	42005488	42005488	+	synonymous_variant	Silent	SNP	G	G	A	rs565428084	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	55	0	ENST00000395925.3:c.3183C>T	p.His1061=	p.H1061=	ENST00000395925	NM_000168.5	1061	caC/caT	0	.	C:0	.	C:0.0014	.	A	H	protein_coding	YES	CCDS5465.1	3183	RADIA|MUTECT|MUSE|VARSCANS	.	GACGAGTGGAA	BUFFER|p.S1062S|c.3186G>A|3,BUFFER|p.S1062L|c.3185C>T|3	by1000G	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	C:0	.	ENSP00000379258	C:0	15/15	.	.	.	.	.	.	.	.	rs565428084	15/15	PASS	ENST00000395925	Transcript	.	C:0.0002	ENSG00000106571	4319	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,synonymous_variant,p.%3D,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	3268	55	67	SUCCESS
ZNF92	168374	.	GRCh37	7	64863556	64863556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	48	0	ENST00000328747.7:c.529A>G	p.Asn177Asp	p.N177D	ENST00000328747	NM_152626.2	177	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS34646.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAAAACCGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000332595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328747	Transcript	.	.	ENSG00000146757	13168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.01)	.	ZNF92_HUMAN	ZNF92	HGNC	C9IZS8_HUMAN	.	UPI0000073CE6	SNV	ZNF92,missense_variant,p.Asn108Asp,ENST00000450302,;ZNF92,missense_variant,p.Asn101Asp,ENST00000431504,;ZNF92,missense_variant,p.Asn145Asp,ENST00000357512,;ZNF92,missense_variant,p.Asn177Asp,ENST00000328747,;	728	48	52	SUCCESS
CHRNA2	1135	.	GRCh37	8	27321444	27321444	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	65	0	ENST00000407991.1:c.516C>T	p.His172=	p.H172=	ENST00000407991	NM_000742.3	172	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS6059.1	516	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGTGCAC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF83,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00254	.	.	ENSP00000385026	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,synonymous_variant,p.%3D,ENST00000407991,;CHRNA2,synonymous_variant,p.%3D,ENST00000240132,;CHRNA2,synonymous_variant,p.%3D,ENST00000520933,;PTK2B,downstream_gene_variant,,ENST00000338238,;PTK2B,downstream_gene_variant,,ENST00000517339,;PTK2B,downstream_gene_variant,,ENST00000420218,;PTK2B,downstream_gene_variant,,ENST00000544172,;PTK2B,downstream_gene_variant,,ENST00000397501,;PTK2B,downstream_gene_variant,,ENST00000346049,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000522008,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,intron_variant,,ENST00000520600,;CHRNA2,intron_variant,,ENST00000523695,;	1125	65	65	SUCCESS
PRKDC	5591	.	GRCh37	8	48701735	48701735	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	36	270	0	ENST00000314191.2:c.10732T>C	p.Ser3578Pro	p.S3578P	ENST00000314191	NM_006904.6	3578	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	.	10732	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGAGAGCT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	76/87	.	.	.	.	.	.	.	.	.	76/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.937)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Ser3578Pro,ENST00000338368,;PRKDC,missense_variant,p.Ser3578Pro,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	10789	270	264	SUCCESS
TMEM68	137695	.	GRCh37	8	56675089	56675089	+	intron_variant	Intron	SNP	T	T	C	rs759908900	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	43	0	ENST00000434581.2:c.325+105A>G		p.*109*	ENST00000434581	NM_001286657.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6161.1	.	MUTECT|MUSE	.	ACTTCTATTAT	NONE	byFrequency	.	.	.	.	ENSP00000335416	.	.	.	.	.	.	.	.	.	.	rs759908900	.	PASS	ENST00000334667	Transcript	.	.	ENSG00000167904	26510	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM68_HUMAN	TMEM68	HGNC	E5RJ96_HUMAN,E5RHI6_HUMAN,E5RGT2_HUMAN	.	UPI00000732CD	SNV	TMEM68,3_prime_UTR_variant,,ENST00000522576,;TMEM68,3_prime_UTR_variant,,ENST00000521229,;TMEM68,intron_variant,,ENST00000522030,;TMEM68,intron_variant,,ENST00000519780,;TMEM68,intron_variant,,ENST00000519784,;TMEM68,intron_variant,,ENST00000334667,;TMEM68,intron_variant,,ENST00000522090,;TMEM68,intron_variant,,ENST00000520414,;TMEM68,intron_variant,,ENST00000523073,;TMEM68,intron_variant,,ENST00000523423,;TMEM68,intron_variant,,ENST00000434581,;TMEM68,downstream_gene_variant,,ENST00000523180,;TMEM68,intron_variant,,ENST00000520061,;	.	43	41	SUCCESS
NSMAF	8439	.	GRCh37	8	59536325	59536325	+	synonymous_variant	Silent	SNP	A	A	G	rs1421782009	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	51	180	0	ENST00000038176.3:c.399T>C	p.Tyr133=	p.Y133=	ENST00000038176	NM_003580.3	133	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS47864.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATATTC	NONE	.	.	hmmpanther:PTHR13743	.	.	ENSP00000411012	.	7/31	.	.	.	.	.	.	.	.	.	7/31	PASS	ENST00000427130	Transcript	.	.	ENSG00000035681	8017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAN_HUMAN	NSMAF	HGNC	.	.	UPI000192950C	SNV	NSMAF,synonymous_variant,p.%3D,ENST00000038176,;NSMAF,synonymous_variant,p.%3D,ENST00000427130,;NSMAF,upstream_gene_variant,,ENST00000519858,;NSMAF,3_prime_UTR_variant,,ENST00000518159,;NSMAF,3_prime_UTR_variant,,ENST00000518229,;	680	180	183	SUCCESS
LRRC69	100130742	.	GRCh37	8	92114976	92114976	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	23	96	0	ENST00000448384.2:c.87G>A	p.Met29Ile	p.M29I	ENST00000448384	NM_001129890.1	29	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	.	87	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGCCCTC	NONE	.	.	hmmpanther:PTHR23155:SF478,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000400803	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000448384	Transcript	.	.	ENSG00000214954	34303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.32)	.	LRC69_HUMAN	LRRC69	HGNC	E5RJ66_HUMAN	.	UPI00006C0DD3	SNV	LRRC69,missense_variant,p.Met29Ile,ENST00000343709,;LRRC69,missense_variant,p.Met29Ile,ENST00000448384,;LRRC69,missense_variant,p.Met29Ile,ENST00000518304,;LRRC69,non_coding_transcript_exon_variant,,ENST00000522144,;LRRC69,missense_variant,p.Met29Ile,ENST00000520099,;	87	97	101	SUCCESS
PAPPA	5069	.	GRCh37	9	118997442	118997442	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	59	1	ENST00000328252.3:c.2258G>T	p.Cys753Phe	p.C753F	ENST00000328252	NM_002581.3	753	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS6813.1	2258	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGTAAGT	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347	.	.	ENSP00000330658	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000328252	Transcript	.	.	ENSG00000182752	8602	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.308)	.	deleterious(0)	.	PAPP1_HUMAN	PAPPA	HGNC	Q5QFB7_HUMAN,F5GZ19_HUMAN	.	UPI00001E0589	SNV	PAPPA,missense_variant,p.Cys753Phe,ENST00000328252,;PAPPA,intron_variant,,ENST00000534838,;	2627	60	61	SUCCESS
FAM129B	0	.	GRCh37	9	130271257	130271257	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs1453484364	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	35	0	ENST00000373312.3:c.1315G>A	p.Glu439Lys	p.E439K	ENST00000373312	NM_022833.2	439	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS35145.1	1315	RADIA|MUTECT|MUSE|VARSCANS	.	TACCTCCCGCA	NONE	.	.	hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392	.	.	ENSP00000362409	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000373312	Transcript	.	.	ENSG00000136830	25282	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.474)	.	deleterious(0.03)	.	NIBL1_HUMAN	FAM129B	HGNC	Q9H6L6_HUMAN	.	UPI00001592F0	SNV	FAM129B,missense_variant,p.Glu426Lys,ENST00000373314,;FAM129B,missense_variant,p.Glu439Lys,ENST00000373312,;FAM129B,intron_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000478917,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,downstream_gene_variant,,ENST00000465154,;	1529	35	36	SUCCESS
ZNF510	22869	.	GRCh37	9	99522338	99522338	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	74	0	ENST00000223428.4:c.774A>G	p.Lys258=	p.K258=	ENST00000223428	NM_014930.1	258	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS35074.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATTTTATT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24392:SF21,hmmpanther:PTHR24392,PROSITE_profiles:PS50157	.	.	ENSP00000364379	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000375231	Transcript	.	.	ENSG00000081386	29161	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN510_HUMAN	ZNF510	HGNC	Q6NUI8_HUMAN	.	UPI0000139E9E	SNV	ZNF510,synonymous_variant,p.%3D,ENST00000375231,;ZNF510,synonymous_variant,p.%3D,ENST00000223428,;ZNF510,downstream_gene_variant,,ENST00000374641,;ZNF510,downstream_gene_variant,,ENST00000472201,;	1425	74	68	SUCCESS
PIH1D3	0	.	GRCh37	X	106486408	106486408	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	32	91	0	ENST00000535523.1:c.525G>C	p.Leu175Phe	p.L175F	ENST00000535523	NM_001169154.1	175	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS14528.1	525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGATAAC	NONE	.	.	hmmpanther:PTHR21083,hmmpanther:PTHR21083:SF0,Pfam_domain:PF08190	.	.	ENSP00000441930	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000535523	Transcript	.	.	ENSG00000080572	28570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	.	tolerated(0.21)	.	PIHD3_HUMAN	PIH1D3	HGNC	.	.	UPI0000073CF5	SNV	PIH1D3,missense_variant,p.Leu175Phe,ENST00000372453,;PIH1D3,missense_variant,p.Leu175Phe,ENST00000535523,;PIH1D3,missense_variant,p.Leu175Phe,ENST00000336387,;	862	91	124	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20213220	20213224	+	frameshift_variant	Frame_Shift_Del	DEL	TACCA	TACCA	-	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	TACCA	TACCA	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	50	0	ENST00000379565.3:c.365_369del	p.Leu122Ter	p.L122*	ENST00000379565	NM_004586.2	122	tTGGTA/t	0	.	.	.	.	.	-	LV/X	protein_coding	YES	CCDS14197.1	365-369	VARSCANI*|PINDEL	.	AACCTCTACCAAGATA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	deletion	RPS6KA3,frameshift_variant,p.Leu93Ter,ENST00000379548,;RPS6KA3,frameshift_variant,p.Leu122Ter,ENST00000379565,;RPS6KA3,frameshift_variant,p.Leu94Ter,ENST00000438357,;RPS6KA3,frameshift_variant,p.Leu94Ter,ENST00000540702,;RPS6KA3,frameshift_variant,p.Leu94Ter,ENST00000544447,;RPS6KA3,frameshift_variant,p.Leu93Ter,ENST00000457145,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;	573-577	50	39	SUCCESS
NAP1L2	4674	.	GRCh37	X	72433658	72433658	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776481839	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	50	0	ENST00000373517.3:c.671T>C	p.Ile224Thr	p.I224T	ENST00000373517	NM_021963.3	224	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS14423.1	671	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAATGTCG	BUFFER|p.E221delE|c.663_665delGGA|3	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF36,Pfam_domain:PF00956,Superfamily_domains:SSF143113	.	.	ENSP00000362616	.	1/1	.	.	.	.	.	.	.	.	rs776481839	1/1	PASS	ENST00000373517	Transcript	.	.	ENSG00000186462	7638	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.67)	.	NP1L2_HUMAN	NAP1L2	HGNC	B4E161_HUMAN	.	UPI00001303E8	SNV	NAP1L2,missense_variant,p.Ile82Thr,ENST00000536638,;NAP1L2,missense_variant,p.Ile224Thr,ENST00000373517,;	1027	50	90	SUCCESS
LOXL4	84171	.	GRCh37	10	100011440	100011440	+	synonymous_variant	Silent	SNP	T	T	A	rs767557610	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	39	0	ENST00000260702.3:c.1971A>T	p.Ala657=	p.A657=	ENST00000260702	NM_032211.6	657	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7473.1	1971	MUTECT|MUSE	.	GCACATGCGTA	NONE	.	.	hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,Pfam_domain:PF01186,Prints_domain:PR00074	.	.	ENSP00000260702	.	13/15	.	.	.	.	.	.	.	.	rs767557610	13/15	PASS	ENST00000260702	Transcript	.	.	ENSG00000138131	17171	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LOXL4_HUMAN	LOXL4	HGNC	.	.	UPI0000046706	SNV	LOXL4,synonymous_variant,p.%3D,ENST00000260702,;RP11-34A14.3,upstream_gene_variant,,ENST00000433374,;	2122	39	56	SUCCESS
NT5C2	22978	.	GRCh37	10	104899213	104899213	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	51	0	ENST00000343289.5:c.125C>G	p.Ala42Gly	p.A42G	ENST00000343289	NM_012229.4	42	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS7544.1	125	MUTECT|MUSE|VARSCANS	.	CCATTGCTAAA	NONE	.	.	Superfamily_domains:SSF56784,PIRSF_domain:PIRSF017434,Pfam_domain:PF05761,TIGRFAM_domain:TIGR02244,hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF17	.	.	ENSP00000339479	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000343289	Transcript	1	.	ENSG00000076685	8022	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.44)	.	5NTC_HUMAN	NT5C2	HGNC	.	.	UPI0000124F44	SNV	NT5C2,missense_variant,p.Ala42Gly,ENST00000404739,;NT5C2,missense_variant,p.Ala42Gly,ENST00000343289,;NT5C2,missense_variant,p.Ala13Gly,ENST00000423468,;NT5C2,intron_variant,,ENST00000470299,;NT5C2,non_coding_transcript_exon_variant,,ENST00000369857,;NT5C2,non_coding_transcript_exon_variant,,ENST00000487810,;NT5C2,missense_variant,p.Ala42Gly,ENST00000452156,;NT5C2,missense_variant,p.Ala42Gly,ENST00000461461,;	213	51	67	SUCCESS
BTBD16	118663	.	GRCh37	10	124090748	124090748	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	53	0	ENST00000260723.4:c.1061A>T	p.Gln354Leu	p.Q354L	ENST00000260723	NM_144587.2	354	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS31301.1	1061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCAGGTTA	NONE	.	.	hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF13	.	.	ENSP00000260723	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000260723	Transcript	.	.	ENSG00000138152	26340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.12)	.	BTBDG_HUMAN	BTBD16	HGNC	.	.	UPI00003CEFB9	SNV	BTBD16,missense_variant,p.Gln354Leu,ENST00000260723,;BTBD16,missense_variant,p.Gln355Leu,ENST00000368994,;BTBD16,upstream_gene_variant,,ENST00000495370,;	1312	53	73	SUCCESS
CUBN	8029	.	GRCh37	10	17157488	17157488	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	56	0	ENST00000377833.4:c.702G>A	p.Met234Ile	p.M234I	ENST00000377833	NM_001081.3	234	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7113.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGCATTAA	NONE	.	.	SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000367064	.	7/67	.	.	.	.	.	.	.	.	.	7/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.19)	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Met234Ile,ENST00000377833,;	768	56	64	SUCCESS
GPR158	57512	.	GRCh37	10	25464991	25464991	+	synonymous_variant	Silent	SNP	C	C	T	rs1378623436	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	33	0	ENST00000376351.3:c.642C>T	p.Ala214=	p.A214=	ENST00000376351	NM_020752.2	214	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31166.1	642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCAACGC	NONE	.	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,synonymous_variant,p.%3D,ENST00000376351,;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;	1001	33	44	SUCCESS
C10orf128	0	.	GRCh37	10	50374902	50374902	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	28	0	ENST00000474718.1:c.238+12G>T		p.*80*	ENST00000474718	NM_001010863.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41519.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCACATC	NONE	.	.	.	.	.	ENSP00000417246	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000474718	Transcript	.	.	ENSG00000204161	27274	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ128_HUMAN	C10orf128	HGNC	.	.	UPI0000039EF9	SNV	C10orf128,intron_variant,,ENST00000453436,;C10orf128,intron_variant,,ENST00000374148,;C10orf128,intron_variant,,ENST00000474718,;C10orf128,intron_variant,,ENST00000374153,;C10orf128,intron_variant,,ENST00000374151,;C10orf128,non_coding_transcript_exon_variant,,ENST00000470884,;C10orf128,intron_variant,,ENST00000488276,;C10orf128,missense_variant,p.Gly105Cys,ENST00000374156,;	.	28	25	SUCCESS
C10orf128	0	.	GRCh37	10	50374903	50374903	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	28	0	ENST00000474718.1:c.238+11T>G		p.*80*	ENST00000474718	NM_001010863.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41519.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCACATCC	NONE	.	.	.	.	.	ENSP00000417246	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000474718	Transcript	.	.	ENSG00000204161	27274	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ128_HUMAN	C10orf128	HGNC	.	.	UPI0000039EF9	SNV	C10orf128,intron_variant,,ENST00000453436,;C10orf128,intron_variant,,ENST00000374148,;C10orf128,intron_variant,,ENST00000474718,;C10orf128,intron_variant,,ENST00000374153,;C10orf128,intron_variant,,ENST00000374151,;C10orf128,non_coding_transcript_exon_variant,,ENST00000470884,;C10orf128,intron_variant,,ENST00000488276,;C10orf128,missense_variant,p.Cys104Trp,ENST00000374156,;	.	28	25	SUCCESS
PALD1	27143	.	GRCh37	10	72289050	72289050	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs550643851	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	13	0	ENST00000263563.6:c.251G>T	p.Arg84Leu	p.R84L	ENST00000263563	NM_014431.2	84	cGg/cTg	0	.	A:0	.	A:0.0014	.	T	R/L	protein_coding	YES	CCDS31215.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGCTCT	NONE	by1000G	.	Superfamily_domains:SSF52799,hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339	A:0	.	ENSP00000263563	A:0	3/20	.	.	.	.	.	.	.	.	rs550643851	3/20	PASS	ENST00000263563	Transcript	.	A:0.0002	ENSG00000107719	23530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	A:0	deleterious(0)	.	PALD_HUMAN	PALD1	HGNC	.	.	UPI00001C1EDC	SNV	PALD1,missense_variant,p.Arg84Leu,ENST00000263563,;	519	13	34	SUCCESS
ZMIZ1	57178	.	GRCh37	10	81050778	81050778	+	synonymous_variant	Silent	SNP	G	G	A	rs745339623	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	63	109	0	ENST00000334512.5:c.603G>A	p.Ala201=	p.A201=	ENST00000334512	NM_020338.3	201	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7357.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGTCGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10782:SF7,hmmpanther:PTHR10782	.	.	ENSP00000334474	.	10/25	.	.	.	.	.	.	.	.	rs745339623	10/25	PASS	ENST00000334512	Transcript	.	.	ENSG00000108175	16493	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMIZ1_HUMAN	ZMIZ1	HGNC	A0PJD4_HUMAN	.	UPI0000161744	SNV	ZMIZ1,synonymous_variant,p.%3D,ENST00000334512,;ZMIZ1,non_coding_transcript_exon_variant,,ENST00000472035,;ZMIZ1,non_coding_transcript_exon_variant,,ENST00000478357,;	1175	109	150	SUCCESS
HHEX	3087	.	GRCh37	10	94450055	94450055	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	55	0	ENST00000282728.5:c.312G>T	p.Pro104=	p.P104=	ENST00000282728	NM_002729.4	104	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7423.1	312	MUTECT|MUSE	.	TTCCCGCGGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24324	.	.	ENSP00000282728	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000282728	Transcript	.	.	ENSG00000152804	4901	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HHEX_HUMAN	HHEX	HGNC	F8VU08_HUMAN	.	UPI000012CA59	SNV	HHEX,synonymous_variant,p.%3D,ENST00000282728,;HHEX,upstream_gene_variant,,ENST00000472590,;HHEX,upstream_gene_variant,,ENST00000492654,;HHEX,non_coding_transcript_exon_variant,,ENST00000551454,;	2111	55	76	SUCCESS
PLCE1	51196	.	GRCh37	10	96006140	96006140	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	48	88	0	ENST00000260766.3:c.2858T>C	p.Ile953Thr	p.I953T	ENST00000260766	NM_016341.3	953	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS41552.1	2858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATATACACA	NONE	.	.	Gene3D:2.30.29.30,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6	.	.	ENSP00000360431	.	7/32	.	.	.	.	.	.	.	.	.	7/32	PASS	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	deleterious(0.04)	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,missense_variant,p.Ile953Thr,ENST00000371380,;PLCE1,missense_variant,p.Ile953Thr,ENST00000260766,;PLCE1,missense_variant,p.Ile645Thr,ENST00000371375,;PLCE1,missense_variant,p.Ile645Thr,ENST00000371385,;	3093	88	108	SUCCESS
MUC6	4588	.	GRCh37	11	1017897	1017897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	26	243	0	ENST00000421673.2:c.4904C>A	p.Thr1635Asn	p.T1635N	ENST00000421673	NM_005961.2	1635	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS44513.1	4904	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGTAGGG	BUFFER|p.A1637E|c.4910C>A|3,BUFFER|p.A1637E|c.4910C>A|3	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264	.	.	ENSP00000406861	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Thr1635Asn,ENST00000421673,;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;	4955	243	216	SUCCESS
DYNC2H1	79659	.	GRCh37	11	102984322	102984322	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	8	123	0	ENST00000375735.2:c.252A>G	p.Glu84=	p.E84=	ENST00000375735	NM_001080463.1	84	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS44717.1	252	MUTECT|MUSE	.	CCTGAAGTAAT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	.	.	ENSP00000381167	.	2/90	.	.	.	.	.	.	.	.	.	2/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,synonymous_variant,p.%3D,ENST00000398093,;DYNC2H1,synonymous_variant,p.%3D,ENST00000334267,;DYNC2H1,synonymous_variant,p.%3D,ENST00000375735,;	252	123	204	SUCCESS
DDI1	414301	.	GRCh37	11	103908253	103908253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	53	71	0	ENST00000302259.3:c.703C>A	p.Pro235Thr	p.P235T	ENST00000302259	NM_001001711.2	235	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS31660.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Pfam_domain:PF09668,Superfamily_domains:SSF50630	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,missense_variant,p.Pro235Thr,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	946	71	94	SUCCESS
MUC2	4583	.	GRCh37	11	1097846	1097847	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	22	0	ENST00000441003.2:c.6942dup	p.Gly2315ArgfsTer4	p.G2315Rfs*4	ENST00000441003	NM_002457.2	2313	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	.	6939-6940	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTGTGCCCGG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	36/49	.	.	.	.	.	.	.	.	.	36/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	insertion	MUC2,frameshift_variant,p.Gly2315ArgfsTer4,ENST00000441003,;MUC2,3_prime_UTR_variant,,ENST00000361558,;MUC2,downstream_gene_variant,,ENST00000333592,;MUC2,downstream_gene_variant,,ENST00000359061,;	6966-6967	22	41	SUCCESS
IL18	3606	.	GRCh37	11	112014513	112014513	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768324029	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	41	58	0	ENST00000280357.7:c.388G>A	p.Asp130Asn	p.D130N	ENST00000280357	NM_001562.3	130	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS44731.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATCCTTGA	NONE	.	.	hmmpanther:PTHR11326,Gene3D:2.80.10.50,Pfam_domain:PF00340,PIRSF_domain:PIRSF015162,Superfamily_domains:SSF50353	.	.	ENSP00000280357	.	6/6	.	.	.	.	.	.	.	.	rs768324029,COSM3443410,COSM3443409	6/6	PASS	ENST00000280357	Transcript	.	.	ENSG00000150782	5986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.067)	.	tolerated(0.1)	0,1,1	IL18_HUMAN	IL18	HGNC	Q9NQ49_HUMAN	.	UPI000012D487	SNV	IL18,missense_variant,p.Asp130Asn,ENST00000528832,;IL18,missense_variant,p.Asp126Asn,ENST00000524595,;IL18,missense_variant,p.Asp130Asn,ENST00000280357,;IL18,non_coding_transcript_exon_variant,,ENST00000533858,;IL18,non_coding_transcript_exon_variant,,ENST00000525547,;SDHD,intron_variant,,ENST00000532699,;SDHD,intron_variant,,ENST00000525987,;SDHD,intron_variant,,ENST00000531744,;	608	58	74	SUCCESS
C11orf71	54494	.	GRCh37	11	114271008	114271008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	55	78	0	ENST00000325636.4:c.46A>T	p.Arg16Trp	p.R16W	ENST00000325636	NM_019021.3	16	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8369.2	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCTGCTCC	NONE	.	.	hmmpanther:PTHR16445	.	.	ENSP00000325508	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000325636	Transcript	.	.	ENSG00000180425	25937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	tolerated_low_confidence(0.1)	.	CK071_HUMAN	C11orf71	HGNC	.	.	UPI000037830C	SNV	C11orf71,missense_variant,p.Arg16Trp,ENST00000325636,;RBM7,5_prime_UTR_variant,,ENST00000540163,;RBM7,upstream_gene_variant,,ENST00000544582,;RBM7,upstream_gene_variant,,ENST00000375490,;RBM7,upstream_gene_variant,,ENST00000545678,;RBM7,upstream_gene_variant,,ENST00000541475,;RBM7,upstream_gene_variant,,ENST00000542140,;RP11-212D19.4,upstream_gene_variant,,ENST00000544347,;RBM7,upstream_gene_variant,,ENST00000538134,;RBM7,upstream_gene_variant,,ENST00000544313,;	132	78	141	SUCCESS
HYOU1	10525	.	GRCh37	11	118922612	118922612	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	61	0	ENST00000404233.3:c.1257A>T	p.Ala419=	p.A419=	ENST00000404233	NM_001130991.1	419	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS8408.1	1257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACTGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301	.	.	ENSP00000384144	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000404233	Transcript	.	.	ENSG00000149428	16931	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYOU1_HUMAN	HYOU1	HGNC	J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN	.	UPI0000130F72	SNV	HYOU1,synonymous_variant,p.%3D,ENST00000404233,;HYOU1,synonymous_variant,p.%3D,ENST00000543287,;HYOU1,synonymous_variant,p.%3D,ENST00000529972,;HYOU1,synonymous_variant,p.%3D,ENST00000530473,;HYOU1,synonymous_variant,p.%3D,ENST00000525859,;HYOU1,downstream_gene_variant,,ENST00000532752,;HYOU1,downstream_gene_variant,,ENST00000527038,;HYOU1,downstream_gene_variant,,ENST00000534233,;HYOU1,downstream_gene_variant,,ENST00000532421,;HYOU1,downstream_gene_variant,,ENST00000526656,;HYOU1,downstream_gene_variant,,ENST00000527310,;HYOU1,3_prime_UTR_variant,,ENST00000532519,;HYOU1,downstream_gene_variant,,ENST00000529174,;HYOU1,upstream_gene_variant,,ENST00000527738,;HYOU1,upstream_gene_variant,,ENST00000531682,;HYOU1,downstream_gene_variant,,ENST00000533381,;HYOU1,downstream_gene_variant,,ENST00000526354,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,downstream_gene_variant,,ENST00000531968,;HYOU1,downstream_gene_variant,,ENST00000530467,;	1382	61	99	SUCCESS
MUC5B	727897	.	GRCh37	11	1248993	1248993	+	synonymous_variant	Silent	SNP	C	C	A	rs781163769	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	49	0	ENST00000529681.1:c.756C>A	p.Ala252=	p.A252=	ENST00000529681	NM_002458.2	252	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44515.2	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCCGGCAA	NONE	byFrequency	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	7/49	.	.	.	.	.	.	.	.	rs781163769	7/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;MUC5B,upstream_gene_variant,,ENST00000531082,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	814	49	51	SUCCESS
BRSK2	9024	.	GRCh37	11	1464728	1464728	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	32	0	ENST00000528841.1:c.643C>T	p.Pro215Ser	p.P215S	ENST00000528841		215	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS58108.1	781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCCCTTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF84,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000371614	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000382179	Transcript	.	.	ENSG00000174672	11405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0)	.	BRSK2_HUMAN	BRSK2	HGNC	E9PRY3_HUMAN,E9PPI2_HUMAN	.	UPI000035E827	SNV	BRSK2,missense_variant,p.Pro155Ser,ENST00000528710,;BRSK2,missense_variant,p.Pro215Ser,ENST00000526678,;BRSK2,missense_variant,p.Pro215Ser,ENST00000308219,;BRSK2,missense_variant,p.Pro215Ser,ENST00000308230,;BRSK2,missense_variant,p.Pro261Ser,ENST00000382179,;BRSK2,missense_variant,p.Pro215Ser,ENST00000528841,;BRSK2,missense_variant,p.Pro215Ser,ENST00000531197,;BRSK2,5_prime_UTR_variant,,ENST00000544817,;BRSK2,downstream_gene_variant,,ENST00000524702,;BRSK2,downstream_gene_variant,,ENST00000528596,;BRSK2,missense_variant,p.Pro121Ser,ENST00000529951,;BRSK2,missense_variant,p.Pro215Ser,ENST00000529433,;BRSK2,non_coding_transcript_exon_variant,,ENST00000531078,;	1034	32	44	SUCCESS
OTOG	340990	.	GRCh37	11	17618537	17618537	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs574498870	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	32	0	ENST00000399391.2:c.3701G>A	p.Arg1234Gln	p.R1234Q	ENST00000399391	NM_001277269.1	1234	cGa/cAa	0	.	A:0	.	A:0.0014	.	A	R/Q	protein_coding	YES	CCDS59225.1	3701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGAACCC	NONE	by1000G	.	hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832,Superfamily_domains:0050434	A:0	.	ENSP00000382323	A:0	29/55	.	.	.	.	.	.	.	.	rs574498870	29/55	PASS	ENST00000399391	Transcript	.	A:0.0002	ENSG00000188162	8516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.668)	A:0	.	.	OTOG_HUMAN	OTOG	HGNC	H9KVB3_HUMAN	.	UPI0001662628	SNV	OTOG,missense_variant,p.Arg1161Gln,ENST00000399397,;OTOG,missense_variant,p.Arg249Gln,ENST00000342528,;OTOG,missense_variant,p.Arg1234Gln,ENST00000399391,;	3701	32	34	SUCCESS
TRAF6	7189	.	GRCh37	11	36511424	36511424	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	28	99	0	ENST00000348124.5:c.1533G>A	p.Glu511=	p.E511=	ENST00000348124	NM_145803.2	511	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS7901.1	1533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCTCCCT	NONE	.	.	hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF52	.	.	ENSP00000433623	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000526995	Transcript	.	.	ENSG00000175104	12036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAF6_HUMAN	TRAF6	HGNC	.	.	UPI000000D924	SNV	TRAF6,synonymous_variant,p.%3D,ENST00000348124,;TRAF6,synonymous_variant,p.%3D,ENST00000526995,;TRAF6,downstream_gene_variant,,ENST00000529150,;	1780	99	89	SUCCESS
OR4C15	81309	.	GRCh37	11	55322576	55322576	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs772138707	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	84	0	ENST00000314644.2:c.794C>G	p.Ser265Cys	p.S265C	ENST00000314644	NM_001001920.1	265	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS31501.1	794	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCCTTGT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF14,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000324958	.	1/1	.	.	.	.	.	.	.	.	rs772138707,COSM928026	1/1	PASS	ENST00000314644	Transcript	.	.	ENSG00000181939	15171	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.891)	.	tolerated_low_confidence(0.09)	0,1	OR4CF_HUMAN	OR4C15	HGNC	.	.	UPI00003B288E	SNV	OR4C15,missense_variant,p.Ser265Cys,ENST00000314644,;	794	84	83	SUCCESS
ARAP1	116985	.	GRCh37	11	72414044	72414044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	20	0	ENST00000393609.3:c.2073C>A	p.Phe691Leu	p.F691L	ENST00000393609	NM_001040118.2	691	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS41687.1	2073	MUTECT|MUSE	.	CCCGAGAAGCA	NONE	.	.	hmmpanther:PTHR23180:SF195,hmmpanther:PTHR23180,Superfamily_domains:SSF50729	.	.	ENSP00000377233	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000393609	Transcript	.	.	ENSG00000186635	16925	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.343)	.	tolerated(0.53)	.	ARAP1_HUMAN	ARAP1	HGNC	F8WBT0_HUMAN,F5GWN4_HUMAN	.	UPI000053F81B	SNV	ARAP1,missense_variant,p.Phe446Leu,ENST00000334211,;ARAP1,missense_variant,p.Phe451Leu,ENST00000393605,;ARAP1,missense_variant,p.Phe691Leu,ENST00000455638,;ARAP1,missense_variant,p.Phe446Leu,ENST00000426523,;ARAP1,missense_variant,p.Phe691Leu,ENST00000393609,;ARAP1,missense_variant,p.Phe385Leu,ENST00000429686,;ARAP1,missense_variant,p.Phe691Leu,ENST00000359373,;ARAP1,5_prime_UTR_variant,,ENST00000427971,;ARAP1,5_prime_UTR_variant,,ENST00000452383,;ARAP1-AS2,intron_variant,,ENST00000500163,;ARAP1,upstream_gene_variant,,ENST00000495878,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;	2276	20	19	SUCCESS
CNTN5	53942	.	GRCh37	11	99715953	99715953	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	41	0	ENST00000524871.1:c.536T>A	p.Val179Glu	p.V179E	ENST00000524871	NM_014361.3	179	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS53696.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTGGGGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000435637	.	6/25	.	.	.	.	.	.	.	.	.	6/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.01)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Val179Glu,ENST00000279463,;CNTN5,missense_variant,p.Val179Glu,ENST00000524871,;CNTN5,missense_variant,p.Val179Glu,ENST00000528682,;CNTN5,missense_variant,p.Val179Glu,ENST00000527185,;CNTN5,missense_variant,p.Val105Glu,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	826	41	54	SUCCESS
UTP20	27340	.	GRCh37	12	101750830	101750830	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1392984466	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	60	0	ENST00000261637.4:c.5661A>C	p.Glu1887Asp	p.E1887D	ENST00000261637	NM_014503.2	1887	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS9081.1	5661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAATTACA	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Superfamily_domains:SSF48371	.	.	ENSP00000261637	.	43/62	.	.	.	.	.	.	.	.	.	43/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0.01)	.	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Glu1887Asp,ENST00000261637,;snoU13,downstream_gene_variant,,ENST00000458958,;	5835	60	71	SUCCESS
STAB2	55576	.	GRCh37	12	104136187	104136187	+	synonymous_variant	Silent	SNP	C	C	T	rs747762448	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	50	0	ENST00000388887.2:c.5886C>T	p.Cys1962=	p.C1962=	ENST00000388887	NM_017564.9	1962	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS31888.1	5886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCCCTGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03,SMART_domains:SM00181	.	.	ENSP00000373539	.	56/69	.	.	.	.	.	.	.	.	rs747762448	56/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,synonymous_variant,p.%3D,ENST00000388887,;RP11-341G23.4,downstream_gene_variant,,ENST00000551299,;	6090	50	64	SUCCESS
PTPN11	5781	.	GRCh37	12	112910827	112910827	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121918456	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	115	223	0	ENST00000351677.2:c.836A>G	p.Tyr279Cys	p.Y279C	ENST00000351677	NM_002834.3	279	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9163.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	TAGATATAAAA	NONE	byCluster	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF000929,Superfamily_domains:SSF52799	.	.	ENSP00000340944	.	7/16	.	.	.	.	.	.	.	.	CM021133,CM041069,rs121918456,COSM1731441	7/16	PASS	ENST00000351677	Transcript	.	.	ENSG00000179295	9644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	20301557	benign(0.213)	.	deleterious(0)	0,0,0,1	PTN11_HUMAN	PTPN11	HGNC	B3GUD4_HUMAN,B3GUD3_HUMAN	.	UPI000013296E	SNV	PTPN11,missense_variant,p.Tyr279Cys,ENST00000351677,;PTPN11,missense_variant,p.Tyr279Cys,ENST00000392597,;	1034	223	265	SUCCESS
GCN1L1	0	.	GRCh37	12	120594723	120594723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201424442	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	30	0	ENST00000300648.6:c.3161G>A	p.Arg1054His	p.R1054H	ENST00000300648	NM_006836.1	1054	cGc/cAc	0	T:0	T:0.0008	.	T:0	.	T	R/H	protein_coding	YES	CCDS41847.1	3161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAGCGAGGC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	T:0	T:0.0001	ENSP00000300648	T:0	27/58	.	.	.	.	.	.	.	.	rs201424442,COSM935871	27/58	PASS	ENST00000300648	Transcript	.	T:0.0002	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.256)	T:0	.	0,1	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Arg1054His,ENST00000300648,;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1L1,non_coding_transcript_exon_variant,,ENST00000551920,;GCN1L1,downstream_gene_variant,,ENST00000550471,;GCN1L1,upstream_gene_variant,,ENST00000548132,;GCN1L1,downstream_gene_variant,,ENST00000547369,;	3174	30	29	SUCCESS
ANP32D	23519	.	GRCh37	12	48866816	48866816	+	synonymous_variant	Silent	SNP	C	C	T	rs780187865	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	73	0	ENST00000266594.1:c.369C>T	p.Cys123=	p.C123=	ENST00000266594	NM_012404.2	123	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS31788.1	369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCGAGGT	NONE	byFrequency	.	PROSITE_profiles:PS51450,hmmpanther:PTHR11375:SF1,hmmpanther:PTHR11375,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000266594	.	1/1	.	.	.	.	.	.	.	.	rs780187865,COSM4042236	1/1	PASS	ENST00000266594	Transcript	.	.	ENSG00000139223	16676	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AN32D_HUMAN	ANP32D	HGNC	.	.	UPI000013D6FE	SNV	ANP32D,synonymous_variant,p.%3D,ENST00000266594,;	369	73	75	SUCCESS
SLC4A8	9498	.	GRCh37	12	51864175	51864175	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	79	0	ENST00000453097.2:c.1525-1G>T		p.X509_splice	ENST00000453097	NM_001039960.2	509		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44890.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGAGTGC	NONE	.	.	.	.	.	ENSP00000405812	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	HIGH	12/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,splice_acceptor_variant,,ENST00000394856,;SLC4A8,splice_acceptor_variant,,ENST00000453097,;SLC4A8,splice_acceptor_variant,,ENST00000535225,;SLC4A8,splice_acceptor_variant,,ENST00000514353,;SLC4A8,splice_acceptor_variant,,ENST00000358657,;SLC4A8,splice_acceptor_variant,,ENST00000546663,;SLC4A8,downstream_gene_variant,,ENST00000550211,;SLC4A8,splice_acceptor_variant,,ENST00000319957,;SLC4A8,splice_acceptor_variant,,ENST00000551071,;SLC4A8,splice_acceptor_variant,,ENST00000604314,;	.	79	85	SUCCESS
KRT83	3889	.	GRCh37	12	52715018	52715018	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	45	0	ENST00000293670.3:c.102C>G	p.Ala34=	p.A34=	ENST00000293670	NM_002282.3	34	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS8823.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGGCGGT	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Superfamily_domains:SSF57184	.	.	ENSP00000293670	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000293670	Transcript	.	.	ENSG00000170523	6460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT83_HUMAN	KRT83	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000070AF2	SNV	KRT83,synonymous_variant,p.%3D,ENST00000293670,;	165	45	96	SUCCESS
KRT83	3889	.	GRCh37	12	52715019	52715019	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760039172	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	42	0	ENST00000293670.3:c.101C>A	p.Ala34Asp	p.A34D	ENST00000293670	NM_002282.3	34	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS8823.1	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGGCGGTG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Superfamily_domains:SSF57184	.	.	ENSP00000293670	.	1/9	.	.	.	.	.	.	.	.	rs760039172	1/9	PASS	ENST00000293670	Transcript	.	.	ENSG00000170523	6460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	KRT83_HUMAN	KRT83	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000070AF2	SNV	KRT83,missense_variant,p.Ala34Asp,ENST00000293670,;	164	42	97	SUCCESS
PDE1B	5153	.	GRCh37	12	54963367	54963367	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	82	0	ENST00000243052.3:c.448T>C	p.Tyr150His	p.Y150H	ENST00000243052	NM_000924.3	150	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS8882.1	448	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTTACTCT	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF83,Superfamily_domains:SSF109604	.	.	ENSP00000243052	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000243052	Transcript	.	.	ENSG00000123360	8775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious(0.01)	.	PDE1B_HUMAN	PDE1B	HGNC	Q7Z364_HUMAN,B4DK72_HUMAN,B3KX78_HUMAN	.	UPI0000001607	SNV	PDE1B,missense_variant,p.Tyr109His,ENST00000538346,;PDE1B,missense_variant,p.Tyr150His,ENST00000243052,;PDE1B,missense_variant,p.Tyr130His,ENST00000550620,;PDE1B,non_coding_transcript_exon_variant,,ENST00000394277,;PDE1B,intron_variant,,ENST00000542335,;PDE1B,synonymous_variant,p.%3D,ENST00000550285,;PDE1B,non_coding_transcript_exon_variant,,ENST00000548855,;	884	82	101	SUCCESS
DCD	117159	.	GRCh37	12	55040905	55040905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs552276383	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	28	0	ENST00000293371.6:c.97C>A	p.Pro33Thr	p.P33T	ENST00000293371	NM_053283.2	33	Cct/Act	0	.	A:0.0008	.	A:0	.	T	P/T	protein_coding	YES	CCDS8884.1	97	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACGGTTCC	NONE	by1000G	.	Pfam_domain:PF15291	A:0	.	ENSP00000293371	A:0	2/5	.	.	.	.	.	.	.	.	rs552276383	2/5	PASS	ENST00000293371	Transcript	.	A:0.0002	ENSG00000161634	14669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.884)	A:0	tolerated_low_confidence(0.52)	.	DCD_HUMAN	DCD	HGNC	.	.	UPI0000001723	SNV	DCD,missense_variant,p.Pro33Thr,ENST00000456047,;DCD,missense_variant,p.Pro33Thr,ENST00000293371,;DCD,missense_variant,p.His33Asn,ENST00000546807,;	287	28	30	SUCCESS
ERBB3	2065	.	GRCh37	12	56486836	56486836	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	60	0	ENST00000267101.3:c.1250C>T	p.Thr417Ile	p.T417I	ENST00000267101	NM_001982.3	417	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS31833.1	1250	RADIA|MUTECT|MUSE	.	GACAACCATTG	NONE	.	.	hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058	.	.	ENSP00000267101	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.902)	.	tolerated(0.26)	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,missense_variant,p.Thr358Ile,ENST00000415288,;ERBB3,missense_variant,p.Thr417Ile,ENST00000267101,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,upstream_gene_variant,,ENST00000553131,;ERBB3,upstream_gene_variant,,ENST00000550070,;ERBB3,missense_variant,p.Thr417Ile,ENST00000551085,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000549472,;ERBB3,upstream_gene_variant,,ENST00000549644,;ERBB3,upstream_gene_variant,,ENST00000550828,;ERBB3,upstream_gene_variant,,ENST00000549205,;ERBB3,downstream_gene_variant,,ENST00000551176,;ERBB3,upstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000546748,;	1690	60	72	SUCCESS
ERBB3	2065	.	GRCh37	12	56486845	56486845	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1005401010	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	53	0	ENST00000267101.3:c.1259G>T	p.Gly420Val	p.G420V	ENST00000267101	NM_001982.3	420	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31833.1	1259	MUTECT|MUSE	.	TGGAGGCAGAA	NONE	.	.	hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058	.	.	ENSP00000267101	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000267101	Transcript	.	.	ENSG00000065361	3431	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ERBB3_HUMAN	ERBB3	HGNC	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN	.	UPI000012A113	SNV	ERBB3,missense_variant,p.Gly361Val,ENST00000415288,;ERBB3,missense_variant,p.Gly420Val,ENST00000267101,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,upstream_gene_variant,,ENST00000553131,;ERBB3,upstream_gene_variant,,ENST00000550070,;ERBB3,missense_variant,p.Gly420Val,ENST00000551085,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000549472,;ERBB3,upstream_gene_variant,,ENST00000549644,;ERBB3,upstream_gene_variant,,ENST00000550828,;ERBB3,upstream_gene_variant,,ENST00000549205,;ERBB3,downstream_gene_variant,,ENST00000551176,;ERBB3,upstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000546748,;	1699	53	66	SUCCESS
LRP1	4035	.	GRCh37	12	57552232	57552232	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	57	0	ENST00000243077.3:c.1609A>G	p.Ile537Val	p.I537V	ENST00000243077	NM_002332.2	537	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS8932.1	1609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCATCATC	NONE	.	.	hmmpanther:PTHR10529:SF100,hmmpanther:PTHR10529,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	11/89	.	.	.	.	.	.	.	.	.	11/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Ile537Val,ENST00000243077,;LRP1,downstream_gene_variant,,ENST00000554174,;	2075	57	55	SUCCESS
MARS	0	.	GRCh37	12	57884114	57884114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	35	0	ENST00000262027.5:c.615G>T	p.Gln205His	p.Q205H	ENST00000262027	NM_004990.3	205	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS8942.1	615	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGCCCCA	NONE	.	.	Gene3D:1.20.1050.10,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69	.	.	ENSP00000262027	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.53)	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,missense_variant,p.Gln77His,ENST00000552371,;MARS,missense_variant,p.Gln205His,ENST00000262027,;MARS,5_prime_UTR_variant,,ENST00000315473,;ARHGAP9,upstream_gene_variant,,ENST00000550288,;ARHGAP9,upstream_gene_variant,,ENST00000393797,;MARS,non_coding_transcript_exon_variant,,ENST00000447721,;MARS,non_coding_transcript_exon_variant,,ENST00000548674,;MARS,downstream_gene_variant,,ENST00000549133,;MARS,downstream_gene_variant,,ENST00000548146,;MARS,missense_variant,p.Ala55Ser,ENST00000551892,;MARS,missense_variant,p.Gln205His,ENST00000537638,;MARS,missense_variant,p.Ala109Ser,ENST00000549074,;MARS,3_prime_UTR_variant,,ENST00000551431,;MARS,3_prime_UTR_variant,,ENST00000552007,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,non_coding_transcript_exon_variant,,ENST00000550449,;MARS,downstream_gene_variant,,ENST00000547062,;MARS,downstream_gene_variant,,ENST00000547501,;MARS,downstream_gene_variant,,ENST00000553162,;MARS,downstream_gene_variant,,ENST00000548714,;MARS,downstream_gene_variant,,ENST00000546481,;MARS,downstream_gene_variant,,ENST00000551842,;MARS,downstream_gene_variant,,ENST00000553123,;	749	35	38	SUCCESS
MRPL51	51258	.	GRCh37	12	6602118	6602118	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1310948707	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	60	0	ENST00000229238.3:c.100A>G	p.Ile34Val	p.I34V	ENST00000229238	NM_016497.3	34	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8547.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTATACCGA	NONE	.	.	hmmpanther:PTHR13409	.	.	ENSP00000229238	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000229238	Transcript	.	.	ENSG00000111639	14044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	RM51_HUMAN	MRPL51	HGNC	M0R176_HUMAN	.	UPI00000527A8	SNV	MRPL51,missense_variant,p.Ile34Val,ENST00000229238,;MRPL51,intron_variant,,ENST00000543703,;NCAPD2,upstream_gene_variant,,ENST00000545962,;NCAPD2,upstream_gene_variant,,ENST00000315579,;NCAPD2,upstream_gene_variant,,ENST00000539714,;NCAPD2,upstream_gene_variant,,ENST00000382457,;MRPL51,non_coding_transcript_exon_variant,,ENST00000543164,;MRPL51,non_coding_transcript_exon_variant,,ENST00000540949,;MRPL51,non_coding_transcript_exon_variant,,ENST00000537701,;MRPL51,non_coding_transcript_exon_variant,,ENST00000538814,;MRPL51,non_coding_transcript_exon_variant,,ENST00000543959,;NCAPD2,upstream_gene_variant,,ENST00000536538,;NCAPD2,upstream_gene_variant,,ENST00000541399,;NCAPD2,upstream_gene_variant,,ENST00000539084,;	562	60	73	SUCCESS
OTOGL	283310	.	GRCh37	12	80762078	80762078	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	51	0	ENST00000547103.1:c.6541G>C	p.Val2181Leu	p.V2181L	ENST00000547103		2181	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	.	6577	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCAGTTGTA	BUFFER|p.A2196V|c.6587C>T|3	.	.	hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	54/58	.	.	.	.	.	.	.	.	.	54/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	tolerated(0.3)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Val212Leu,ENST00000546620,;OTOGL,missense_variant,p.Val2193Leu,ENST00000458043,;OTOGL,missense_variant,p.Val210Leu,ENST00000550182,;OTOGL,missense_variant,p.Val601Leu,ENST00000298820,;OTOGL,missense_variant,p.Val2181Leu,ENST00000547103,;OTOGL,3_prime_UTR_variant,,ENST00000551340,;	6583	51	56	SUCCESS
CLLU1	574028	.	GRCh37	12	92818352	92818352	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	8	0	ENST00000378485.1:c.-105A>G		p.*35*	ENST00000378485	NM_001025233.1			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	TACTTACTAGC	NONE	.	.	.	.	.	ENSP00000367746	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000378485	Transcript	.	.	ENSG00000257127	29841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLLU1_HUMAN	CLLU1	HGNC	.	.	UPI00004A1179	SNV	CLLU1,5_prime_UTR_variant,,ENST00000378485,;CLLU1OS,intron_variant,,ENST00000378487,;CLLU1OS,intron_variant,,ENST00000538965,;RP11-693J15.4,intron_variant,,ENST00000508671,;CLLU1,intron_variant,,ENST00000512817,;CLLU1,intron_variant,,ENST00000472839,;CLLU1,non_coding_transcript_exon_variant,,ENST00000586526,;CLLU1,downstream_gene_variant,,ENST00000589406,;	618	8	13	SUCCESS
TMCO3	55002	.	GRCh37	13	114201642	114201644	+	frameshift_variant	Frame_Shift_Del	DEL	CGT	CGT	AA	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	CGT	CGT	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	44	0	ENST00000434316.2:c.1718_1720delinsAA	p.Ala573GlufsTer16	p.A573Efs*16	ENST00000434316	NM_017905.4	573	gCGTac/gAAac	0	.	.	.	.	.	AA	AY/EX	protein_coding	YES	CCDS9537.1	1718-1720	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TTGTGGCGTACGAG	NONE	.	.	Pfam_domain:PF00999,hmmpanther:PTHR16254,Transmembrane_helices:TMhelix	.	.	ENSP00000389399	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000434316	Transcript	.	.	ENSG00000150403	20329	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMCO3_HUMAN	TMCO3	HGNC	.	.	UPI000004C642	substitution	TMCO3,frameshift_variant,p.Ala573GlufsTer16,ENST00000434316,;TMCO3,intron_variant,,ENST00000375391,;TMCO3,non_coding_transcript_exon_variant,,ENST00000491166,;TMCO3,non_coding_transcript_exon_variant,,ENST00000460039,;	2077-2079	44	66	SUCCESS
SACS	26278	.	GRCh37	13	23905055	23905055	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	80	0	ENST00000382292.3:c.12960T>C	p.Leu4320=	p.L4320=	ENST00000382292		4320	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS9300.2	12960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGAAGCTT	NONE	.	.	PROSITE_profiles:PS50076,hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600,Gene3D:1.10.287.110,Superfamily_domains:SSF46565	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,synonymous_variant,p.%3D,ENST00000382292,;SACS,synonymous_variant,p.%3D,ENST00000402364,;SACS,synonymous_variant,p.%3D,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	13549	80	57	SUCCESS
SACS	26278	.	GRCh37	13	23905368	23905368	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs550068559	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	50	0	ENST00000382292.3:c.12647A>G	p.Asp4216Gly	p.D4216G	ENST00000382292		4216	gAc/gGc	0	.	C:0	.	C:0	.	C	D/G	protein_coding	YES	CCDS9300.2	12647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGTCAGCA	NONE	byFrequency|by1000G	.	hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	C:0	.	ENSP00000371735	C:0	10/10	.	.	.	.	.	.	.	.	rs550068559	10/10	PASS	ENST00000382298	Transcript	.	C:0.0004	ENSG00000151835	10519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	C:0.002	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,missense_variant,p.Asp4216Gly,ENST00000382292,;SACS,missense_variant,p.Asp3466Gly,ENST00000402364,;SACS,missense_variant,p.Asp4216Gly,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	13236	50	34	SUCCESS
PROSER1	80209	.	GRCh37	13	39588511	39588511	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	43	0	ENST00000352251.3:c.878A>G	p.Asn293Ser	p.N293S	ENST00000352251	NM_025138.4	293	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS9368.2	878	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATTAATT	NONE	.	.	hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2	.	.	ENSP00000332034	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000352251	Transcript	.	.	ENSG00000120685	20291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.67)	.	PRSR1_HUMAN	PROSER1	HGNC	.	.	UPI00001FCC65	SNV	PROSER1,missense_variant,p.Asn293Ser,ENST00000352251,;PROSER1,missense_variant,p.Asn271Ser,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,non_coding_transcript_exon_variant,,ENST00000602512,;PROSER1,upstream_gene_variant,,ENST00000492646,;PROSER1,downstream_gene_variant,,ENST00000602899,;	1712	43	56	SUCCESS
NEK3	4752	.	GRCh37	13	52718081	52718081	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	20	68	0	ENST00000400357.2:c.846A>G	p.Lys282=	p.K282=	ENST00000400357		282	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS53871.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTTTTAT	NONE	.	.	hmmpanther:PTHR24362:SF7,hmmpanther:PTHR24362	.	.	ENSP00000383210	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000400357	Transcript	.	.	ENSG00000136098	7746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK3_HUMAN	NEK3	HGNC	F8VV00_HUMAN	.	UPI0000E59B02	SNV	NEK3,synonymous_variant,p.%3D,ENST00000378101,;NEK3,synonymous_variant,p.%3D,ENST00000452082,;NEK3,synonymous_variant,p.%3D,ENST00000339406,;NEK3,synonymous_variant,p.%3D,ENST00000400357,;NEK3,synonymous_variant,p.%3D,ENST00000258597,;NEK3,synonymous_variant,p.%3D,ENST00000548127,;NEK3,synonymous_variant,p.%3D,ENST00000547820,;NEK3,downstream_gene_variant,,ENST00000552973,;NEK3,downstream_gene_variant,,ENST00000551355,;	2140	68	75	SUCCESS
PCDH9	5101	.	GRCh37	13	67800963	67800963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	81	0	ENST00000377865.2:c.1610G>A	p.Arg537Gln	p.R537Q	ENST00000377865		537	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS9444.1	1610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCGTTCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000442186	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.936)	.	deleterious(0.05)	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,missense_variant,p.Arg537Gln,ENST00000377861,;PCDH9,missense_variant,p.Arg537Gln,ENST00000328454,;PCDH9,missense_variant,p.Arg537Gln,ENST00000544246,;PCDH9,missense_variant,p.Arg537Gln,ENST00000377865,;PCDH9,missense_variant,p.Arg537Gln,ENST00000456367,;	2302	81	74	SUCCESS
PPP1R13B	23368	.	GRCh37	14	104205095	104205095	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773911225	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	92	0	ENST00000202556.9:c.2785G>A	p.Val929Ile	p.V929I	ENST00000202556	NM_015316.2	929	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS41997.1	2785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACGGCGT	NONE	byFrequency	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000202556	.	14/17	.	.	.	.	.	.	.	.	rs773911225	14/17	PASS	ENST00000202556	Transcript	.	.	ENSG00000088808	14950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.589)	.	deleterious(0)	.	ASPP1_HUMAN	PPP1R13B	HGNC	G3V5J1_HUMAN	.	UPI000049DDC7	SNV	PPP1R13B,missense_variant,p.Val348Ile,ENST00000423488,;PPP1R13B,missense_variant,p.Val929Ile,ENST00000202556,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555391,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000556325,;PPP1R13B,downstream_gene_variant,,ENST00000555991,;PPP1R13B,missense_variant,p.Val585Ile,ENST00000556597,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000556334,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000554432,;PPP1R13B,downstream_gene_variant,,ENST00000557744,;PPP1R13B,upstream_gene_variant,,ENST00000557587,;PPP1R13B,upstream_gene_variant,,ENST00000555825,;	3068	92	102	SUCCESS
AHNAK2	113146	.	GRCh37	14	105417167	105417167	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760965946	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	8	129	0	ENST00000333244.5:c.4621C>A	p.Leu1541Met	p.L1541M	ENST00000333244	NM_138420.2	1541	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS45177.1	4621	MUTECT|VARSCANS	.	GCTCAGGTCAG	NONE	byFrequency	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs760965946	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Leu1541Met,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	4741	129	110	SUCCESS
OR4K17	390436	.	GRCh37	14	20585602	20585602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	48	66	0	ENST00000315543.4:c.37A>T	p.Ser13Cys	p.S13C	ENST00000315543	NM_001004715.1	13	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS32030.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGAGTGAT	NONE	.	.	.	.	.	ENSP00000319197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315543	Transcript	.	.	ENSG00000176230	15355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious_low_confidence(0)	.	OR4KH_HUMAN	OR4K17	HGNC	.	.	UPI000004B1EA	SNV	OR4K17,missense_variant,p.Ser13Cys,ENST00000315543,;	37	66	94	SUCCESS
RPGRIP1	57096	.	GRCh37	14	21770659	21770659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	30	0	ENST00000400017.2:c.503G>A	p.Arg168Lys	p.R168K	ENST00000400017	NM_020366.3	168	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS45080.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGGCTGA	NONE	.	.	hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3	.	.	ENSP00000382895	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000400017	Transcript	.	.	ENSG00000092200	13436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	RPGR1_HUMAN	RPGRIP1	HGNC	.	.	UPI0000071B81	SNV	RPGRIP1,missense_variant,p.Arg168Lys,ENST00000400017,;RPGRIP1,missense_variant,p.Arg168Lys,ENST00000556336,;RPGRIP1,missense_variant,p.Arg168Lys,ENST00000557771,;RPGRIP1,missense_variant,p.Arg168Lys,ENST00000206660,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000554750,;	503	30	40	SUCCESS
SALL2	6297	.	GRCh37	14	21991101	21991101	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs267603925	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	70	0	ENST00000327430.3:c.2761C>A	p.Pro921Thr	p.P921T	ENST00000327430	NM_005407.1	921	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32045.1	2761	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	GGAGGGAAAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000333537	.	2/2	.	.	.	.	.	.	.	.	rs267603925	2/2	PASS	ENST00000327430	Transcript	.	.	ENSG00000165821	10526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.069)	.	deleterious(0.01)	.	SALL2_HUMAN	SALL2	HGNC	F5H1G6_HUMAN	.	UPI00001AF54D	SNV	SALL2,missense_variant,p.Pro784Thr,ENST00000450879,;SALL2,missense_variant,p.Pro921Thr,ENST00000327430,;SALL2,missense_variant,p.Pro780Thr,ENST00000546363,;SALL2,intron_variant,,ENST00000538754,;SALL2,intron_variant,,ENST00000317492,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	3056	70	104	SUCCESS
PCK2	5106	.	GRCh37	14	24572377	24572377	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	50	0	ENST00000216780.4:c.1381C>T	p.Leu461=	p.L461=	ENST00000216780	NM_004563.2	461	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9609.1	1381	RADIA|MUTECT|MUSE|VARSCANS	.	TACCCCTGGTA	NONE	.	.	Superfamily_domains:SSF53795,PIRSF_domain:PIRSF001348,Pfam_domain:PF00821,Gene3D:3.90.228.20,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452	.	.	ENSP00000216780	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000216780	Transcript	.	.	ENSG00000100889	8725	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCKGM_HUMAN	PCK2	HGNC	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN	.	UPI000013C708	SNV	PCK2,synonymous_variant,p.%3D,ENST00000216780,;PCK2,synonymous_variant,p.%3D,ENST00000561286,;PCK2,synonymous_variant,p.%3D,ENST00000559250,;PCK2,synonymous_variant,p.%3D,ENST00000545054,;PCK2,intron_variant,,ENST00000559171,;NRL,intron_variant,,ENST00000558280,;NRL,intron_variant,,ENST00000561028,;PCK2,intron_variant,,ENST00000558096,;PCK2,downstream_gene_variant,,ENST00000396973,;PCK2,downstream_gene_variant,,ENST00000559837,;PCK2,downstream_gene_variant,,ENST00000560736,;PCK2,non_coding_transcript_exon_variant,,ENST00000557969,;PCK2,downstream_gene_variant,,ENST00000560106,;PCK2,downstream_gene_variant,,ENST00000559503,;PCK2,downstream_gene_variant,,ENST00000559584,;PCK2,downstream_gene_variant,,ENST00000558674,;PCK2,downstream_gene_variant,,ENST00000561050,;	1649	50	83	SUCCESS
NOVA1	4857	.	GRCh37	14	26949267	26949267	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	76	0	ENST00000539517.2:c.363A>C	p.Arg121=	p.R121=	ENST00000539517	NM_002515.2	121	cgA/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS32061.1	363	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTCGAAT	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Gene3D:3.30.1370.10,hmmpanther:PTHR10288:SF143,hmmpanther:PTHR10288	.	.	ENSP00000438875	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,synonymous_variant,p.%3D,ENST00000465357,;NOVA1,synonymous_variant,p.%3D,ENST00000547619,;NOVA1,synonymous_variant,p.%3D,ENST00000549571,;NOVA1,synonymous_variant,p.%3D,ENST00000344429,;NOVA1,synonymous_variant,p.%3D,ENST00000539517,;NOVA1,synonymous_variant,p.%3D,ENST00000574031,;NOVA1,synonymous_variant,p.%3D,ENST00000449198,;NOVA1,5_prime_UTR_variant,,ENST00000549146,;NOVA1,5_prime_UTR_variant,,ENST00000347476,;NOVA1,5_prime_UTR_variant,,ENST00000267422,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;	681	76	79	SUCCESS
ATG2B	55102	.	GRCh37	14	96781503	96781503	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	18	106	0	ENST00000359933.4:c.3630C>T	p.Ser1210=	p.S1210=	ENST00000359933	NM_018036.5	1210	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS9944.2	3630	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGCTAAG	NONE	.	.	hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	.	.	ENSP00000353010	.	23/42	.	.	.	.	.	.	.	.	.	23/42	PASS	ENST00000359933	Transcript	.	.	ENSG00000066739	20187	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATG2B_HUMAN	ATG2B	HGNC	.	.	UPI000155D51F	SNV	ATG2B,synonymous_variant,p.%3D,ENST00000359933,;ATG2B,downstream_gene_variant,,ENST00000488421,;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;	4524	106	135	SUCCESS
MAGEL2	54551	.	GRCh37	15	23890418	23890418	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	71	0	ENST00000532292.1:c.663C>T	p.Pro221=	p.P221=	ENST00000532292	NM_019066.4	221	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	.	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGGGATC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,synonymous_variant,p.%3D,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	758	71	82	SUCCESS
GABRG3	2567	.	GRCh37	15	27271951	27271951	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	47	130	0	ENST00000333743.6:c.253G>T	p.Val85Leu	p.V85L	ENST00000333743	NM_033223.4	85	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS45195.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGTGTCA	NONE	.	.	hmmpanther:PTHR18945:SF195,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000331912	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.123)	.	tolerated(0.24)	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,missense_variant,p.Val85Leu,ENST00000555083,;GABRG3,missense_variant,p.Val85Leu,ENST00000333743,;GABRG3,non_coding_transcript_exon_variant,,ENST00000553440,;	507	130	142	SUCCESS
HERC2	8924	.	GRCh37	15	28422626	28422626	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	57	0	ENST00000261609.7:c.9193G>T	p.Asp3065Tyr	p.D3065Y	ENST00000261609	NM_004667.5	3065	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10021.1	9193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCGACAG	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000261609	.	60/93	.	.	.	.	.	.	.	.	.	60/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Asp3065Tyr,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	9302	57	102	SUCCESS
RAD51	5888	.	GRCh37	15	40998470	40998470	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	97	222	0	ENST00000267868.3:c.321A>T	p.Lys107Asn	p.K107N	ENST00000267868	NM_002875.4	107	aaA/aaT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53931.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAAGAGCT	NONE	.	.	.	.	.	ENSP00000372088	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382643	Transcript	1	.	ENSG00000051180	9817	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAD51_HUMAN	RAD51	HGNC	Q9NZG9_HUMAN	.	UPI000035E763	SNV	RAD51,missense_variant,p.Lys107Asn,ENST00000423169,;RAD51,missense_variant,p.Lys107Asn,ENST00000527860,;RAD51,missense_variant,p.Lys107Asn,ENST00000267868,;RAD51,intron_variant,,ENST00000532743,;RAD51,intron_variant,,ENST00000382643,;RAD51,intron_variant,,ENST00000557850,;RAD51,missense_variant,p.Lys107Asn,ENST00000525066,;RAD51,3_prime_UTR_variant,,ENST00000533741,;RAD51,intron_variant,,ENST00000531277,;	.	222	314	SUCCESS
EPB42	2038	.	GRCh37	15	43502619	43502619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	30	0	ENST00000441366.2:c.568G>T	p.Asp190Tyr	p.D190Y	ENST00000441366	NM_001114134.1	190	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10093.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCAATGA	NONE	.	.	hmmpanther:PTHR11590:SF37,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	.	ENSP00000300215	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000300215	Transcript	1	.	ENSG00000166947	3381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	EPB42_HUMAN	EPB42	HGNC	Q4VB96_HUMAN	.	UPI000013E639	SNV	EPB42,missense_variant,p.Asp143Tyr,ENST00000568508,;EPB42,missense_variant,p.Asp220Tyr,ENST00000300215,;EPB42,missense_variant,p.Asp112Tyr,ENST00000540029,;EPB42,missense_variant,p.Asp190Tyr,ENST00000441366,;EPB42,intron_variant,,ENST00000569204,;EPB42,upstream_gene_variant,,ENST00000565459,;EPB42,upstream_gene_variant,,ENST00000563128,;EPB42,upstream_gene_variant,,ENST00000567019,;	1116	30	35	SUCCESS
CCPG1	9236	.	GRCh37	15	55651833	55651833	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	60	0	ENST00000310958.6:c.2138A>T	p.Glu713Val	p.E713V	ENST00000310958	NM_001204451.1	713	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS55966.1	2138	RADIA|MUTECT|MUSE|VARSCANS	.	CATATTCCTTC	NONE	.	.	.	.	.	ENSP00000403400	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000442196	Transcript	.	.	ENSG00000260916	24227	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	CCPG1_HUMAN	CCPG1	HGNC	H3BTZ1_HUMAN,H3BR24_HUMAN	.	UPI0000D61347	SNV	CCPG1,missense_variant,p.Glu17Val,ENST00000564663,;CCPG1,missense_variant,p.Glu713Val,ENST00000310958,;CCPG1,missense_variant,p.Glu330Val,ENST00000425574,;CCPG1,missense_variant,p.Glu713Val,ENST00000442196,;CCPG1,missense_variant,p.Glu713Val,ENST00000569205,;CCPG1,intron_variant,,ENST00000568543,;CCPG1,intron_variant,,ENST00000568592,;PIGB,downstream_gene_variant,,ENST00000164305,;PIGB,downstream_gene_variant,,ENST00000539642,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;CCPG1,3_prime_UTR_variant,,ENST00000568808,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;PIGB,downstream_gene_variant,,ENST00000565367,;PIGB,downstream_gene_variant,,ENST00000563742,;PIGB,downstream_gene_variant,,ENST00000565502,;PIGB,downstream_gene_variant,,ENST00000562751,;	2186	60	101	SUCCESS
SLC24A1	9187	.	GRCh37	15	65917213	65917213	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	50	86	0	ENST00000261892.6:c.795A>T	p.Glu265Asp	p.E265D	ENST00000261892	NM_004727.2	265	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45284.1	795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAAGCAAA	NONE	.	.	hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF6,TIGRFAM_domain:TIGR00927	.	.	ENSP00000261892	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000261892	Transcript	1	.	ENSG00000074621	10975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	.	.	NCKX1_HUMAN	SLC24A1	HGNC	.	.	UPI000013020C	SNV	SLC24A1,missense_variant,p.Glu265Asp,ENST00000546330,;SLC24A1,missense_variant,p.Glu265Asp,ENST00000399033,;SLC24A1,missense_variant,p.Glu265Asp,ENST00000544319,;SLC24A1,missense_variant,p.Glu265Asp,ENST00000339868,;SLC24A1,missense_variant,p.Glu265Asp,ENST00000537259,;SLC24A1,missense_variant,p.Glu265Asp,ENST00000261892,;SLC24A1,intron_variant,,ENST00000425561,;SLC24A1,downstream_gene_variant,,ENST00000535950,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000434116,;	1082	86	163	SUCCESS
DENND4A	10260	.	GRCh37	15	65994116	65994116	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1248630039	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	292	8	188	0	ENST00000431932.2:c.2543A>G	p.Tyr848Cys	p.Y848C	ENST00000431932	NM_005848.3	848	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS53949.1	2543	MUTECT|MUSE	.	AACCATAAGTA	NONE	.	.	hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296	.	.	ENSP00000391167	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.94)	.	deleterious(0.01)	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,missense_variant,p.Tyr848Cys,ENST00000564674,;DENND4A,missense_variant,p.Tyr848Cys,ENST00000443035,;DENND4A,missense_variant,p.Tyr848Cys,ENST00000431932,;snoU13,upstream_gene_variant,,ENST00000459325,;DENND4A,non_coding_transcript_exon_variant,,ENST00000562028,;	2759	188	300	SUCCESS
DENND4A	10260	.	GRCh37	15	66031083	66031083	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	51	115	0	ENST00000431932.2:c.762A>G	p.Val254=	p.V254=	ENST00000431932	NM_005848.3	254	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS53949.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATACAGG	NONE	.	.	PROSITE_profiles:PS50946,hmmpanther:PTHR12296:SF16,hmmpanther:PTHR12296,Pfam_domain:PF03456,SMART_domains:SM00800	.	.	ENSP00000391167	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000443035	Transcript	.	.	ENSG00000174485	24321	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCPP_HUMAN	DENND4A	HGNC	.	.	UPI000013EDF7	SNV	DENND4A,synonymous_variant,p.%3D,ENST00000564674,;DENND4A,synonymous_variant,p.%3D,ENST00000443035,;DENND4A,synonymous_variant,p.%3D,ENST00000431932,;RAB11A,intron_variant,,ENST00000569304,;DENND4A,non_coding_transcript_exon_variant,,ENST00000568515,;	978	115	177	SUCCESS
DIS3L	115752	.	GRCh37	15	66621720	66621720	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	17	92	0	ENST00000319212.4:c.2518A>G	p.Ile840Val	p.I840V	ENST00000319212	NM_001143688.1	840	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS45286.1	2518	RADIA|MUTECT|MUSE|VARSCANS	.	GACATATCAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30,Superfamily_domains:SSF50249	.	.	ENSP00000321711	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000319212	Transcript	.	.	ENSG00000166938	28698	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.223)	.	deleterious(0.02)	.	DI3L1_HUMAN	DIS3L	HGNC	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN	.	UPI000162779D	SNV	DIS3L,missense_variant,p.Ile757Val,ENST00000319194,;DIS3L,missense_variant,p.Ile840Val,ENST00000319212,;DIS3L,downstream_gene_variant,,ENST00000441424,;RP11-352G18.2,intron_variant,,ENST00000565993,;DIS3L,non_coding_transcript_exon_variant,,ENST00000568874,;DIS3L,3_prime_UTR_variant,,ENST00000530537,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564945,;DIS3L,downstream_gene_variant,,ENST00000565281,;DIS3L,downstream_gene_variant,,ENST00000564909,;DIS3L,downstream_gene_variant,,ENST00000524795,;	2568	92	150	SUCCESS
THAP10	56906	.	GRCh37	15	71175115	71175115	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs148723779	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	69	167	0	ENST00000249861.4:c.562del	p.Arg188ValfsTer11	p.R188Vfs*11	ENST00000249861	NM_020147.3	188	Cgt/gt	0	A:0.0002	.	.	.	.	-	R/X	protein_coding	YES	CCDS10237.1	562	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGACGGGGCC	NONE	byCluster	.	.	.	A:0.0001	ENSP00000249861	.	2/3	.	.	.	.	.	.	.	.	rs148723779	2/3	PASS	ENST00000249861	Transcript	.	.	ENSG00000129028	23193	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THA10_HUMAN	THAP10	HGNC	.	.	UPI0000071917	deletion	THAP10,frameshift_variant,p.Arg58ValfsTer11,ENST00000560604,;THAP10,frameshift_variant,p.Arg188ValfsTer11,ENST00000249861,;LRRC49,intron_variant,,ENST00000544974,;LRRC49,intron_variant,,ENST00000558546,;LRRC49,intron_variant,,ENST00000558799,;	1075	167	289	SUCCESS
MAN2A2	4122	.	GRCh37	15	91450650	91450650	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747910439	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	70	0	ENST00000360468.3:c.1121G>T	p.Arg374Leu	p.R374L	ENST00000360468	NM_006122.2	374	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS32332.1	1121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACGCCTGC	NONE	.	.	Superfamily_domains:SSF88713,Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	7/22	.	.	.	.	.	.	.	.	rs747910439	7/22	PASS	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Arg59Leu,ENST00000557865,;MAN2A2,missense_variant,p.Arg374Leu,ENST00000360468,;MAN2A2,missense_variant,p.Ala12Ser,ENST00000560616,;MAN2A2,missense_variant,p.Arg374Leu,ENST00000559717,;MAN2A2,5_prime_UTR_variant,,ENST00000431652,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,downstream_gene_variant,,ENST00000559999,;MAN2A2,upstream_gene_variant,,ENST00000430376,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,downstream_gene_variant,,ENST00000559132,;MAN2A2,downstream_gene_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000561240,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Arg374Leu,ENST00000558161,;MAN2A2,missense_variant,p.Arg374Leu,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000561046,;MAN2A2,upstream_gene_variant,,ENST00000560505,;MAN2A2,upstream_gene_variant,,ENST00000561448,;MAN2A2,upstream_gene_variant,,ENST00000561047,;MAN2A2,upstream_gene_variant,,ENST00000559374,;	1139	70	88	SUCCESS
NR2F2	7026	.	GRCh37	15	96875737	96875737	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	37	87	0	ENST00000394166.3:c.403C>A	p.Arg135Ser	p.R135S	ENST00000394166	NM_021005.3	135	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS10375.1	403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCGCCTC	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	.	.	ENSP00000377721	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	SNV	NR2F2,missense_variant,p.Arg135Ser,ENST00000394166,;NR2F2,intron_variant,,ENST00000421109,;NR2F2,upstream_gene_variant,,ENST00000453270,;NR2F2,upstream_gene_variant,,ENST00000394171,;NR2F2,upstream_gene_variant,,ENST00000559679,;MIR1469,upstream_gene_variant,,ENST00000410719,;	1792	87	142	SUCCESS
RBBP6	5930	.	GRCh37	16	24583179	24583180	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	139	25	119	0	ENST00000319715.4:c.4794dup	p.Glu1599Ter	p.E1599*	ENST00000319715	NM_006910.4	1598	gtt/gTtt	0	.	.	.	.	.	T	V/VX	protein_coding	YES	CCDS10621.1	4792-4793	INDELOCATOR*|VARSCANI*|PINDEL	.	CACAGGTTGAA	NONE	.	.	hmmpanther:PTHR15439:SF1,hmmpanther:PTHR15439	.	.	ENSP00000317872	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000319715	Transcript	.	.	ENSG00000122257	9889	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBBP6_HUMAN	RBBP6	HGNC	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN	.	UPI00001A96B8	insertion	RBBP6,frameshift_variant,p.Glu759Ter,ENST00000381039,;RBBP6,frameshift_variant,p.Glu1599Ter,ENST00000319715,;RBBP6,frameshift_variant,p.Glu1565Ter,ENST00000348022,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	5224-5225	119	164	SUCCESS
IL4R	3566	.	GRCh37	16	27374563	27374563	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	22	0	ENST00000395762.2:c.1890G>T	p.Gly630=	p.G630=	ENST00000395762	NM_000418.3	630	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10629.1	1890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGTATAA	NONE	.	.	hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24	.	.	ENSP00000379111	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000395762	Transcript	.	.	ENSG00000077238	6015	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL4RA_HUMAN	IL4R	HGNC	J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN	.	UPI0000044371	SNV	IL4R,synonymous_variant,p.%3D,ENST00000395762,;IL4R,synonymous_variant,p.%3D,ENST00000380922,;IL4R,synonymous_variant,p.%3D,ENST00000543915,;IL4R,synonymous_variant,p.%3D,ENST00000170630,;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	2149	22	23	SUCCESS
CREBBP	1387	.	GRCh37	16	3860606	3860606	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs747990896	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	70	0	ENST00000262367.5:c.973A>T	p.Met325Leu	p.M325L	ENST00000262367	NM_004380.2	325	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS10509.1	973	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCATATTTG	NONE	byFrequency	.	hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	.	.	ENSP00000262367	.	3/31	.	.	.	.	.	.	.	.	rs747990896	3/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,missense_variant,p.Met325Leu,ENST00000262367,;CREBBP,missense_variant,p.Met325Leu,ENST00000382070,;	1783	70	89	SUCCESS
C16orf96	342346	.	GRCh37	16	4606659	4606659	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	47	0	ENST00000444310.4:c.169C>T	p.Gln57Ter	p.Q57*	ENST00000444310	NM_001145011.1	57	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS53986.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGCAGGTG	NONE	.	.	.	.	.	ENSP00000415027	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000444310	Transcript	.	.	ENSG00000205832	40031	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP096_HUMAN	C16orf96	HGNC	.	.	UPI0001929538	SNV	C16orf96,stop_gained,p.Gln57Ter,ENST00000444310,;RP11-709D24.5,downstream_gene_variant,,ENST00000563704,;	169	47	76	SUCCESS
ABCC12	94160	.	GRCh37	16	48130827	48130827	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	C	C	A	rs776810597	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	37	0	ENST00000311303.3:c.3039-14G>T		p.*1013*	ENST00000311303	NM_033226.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10730.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGTCGTTTA	NONE	.	.	.	.	.	ENSP00000311030	.	.	.	.	.	.	.	.	.	.	rs776810597	.	PASS	ENST00000311303	Transcript	.	.	ENSG00000140798	14640	.	.	MODIFIER	21/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP9_HUMAN	ABCC12	HGNC	E9PHY2_HUMAN	.	UPI0000456987	SNV	ABCC12,3_prime_UTR_variant,,ENST00000416054,;ABCC12,3_prime_UTR_variant,,ENST00000448542,;ABCC12,intron_variant,,ENST00000311303,;ABCC12,3_prime_UTR_variant,,ENST00000532494,;ABCC12,3_prime_UTR_variant,,ENST00000529504,;ABCC12,3_prime_UTR_variant,,ENST00000497206,;ABCC12,3_prime_UTR_variant,,ENST00000534418,;ABCC12,3_prime_UTR_variant,,ENST00000529084,;	.	37	59	SUCCESS
CHD9	80205	.	GRCh37	16	53296958	53296958	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	15	47	0	ENST00000398510.3:c.4269G>A	p.Trp1423Ter	p.W1423*	ENST00000398510		1423	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS45485.1	4269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGCAAAA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	.	.	ENSP00000457466	.	20/39	.	.	.	.	.	.	.	.	.	20/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,stop_gained,p.Trp1423Ter,ENST00000566029,;CHD9,stop_gained,p.Trp949Ter,ENST00000565803,;CHD9,stop_gained,p.Trp1423Ter,ENST00000447540,;CHD9,stop_gained,p.Trp1423Ter,ENST00000564845,;CHD9,stop_gained,p.Trp1423Ter,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	4478	47	58	SUCCESS
CNOT1	23019	.	GRCh37	16	58585618	58585629	+	inframe_deletion	In_Frame_Del	DEL	CCTGGGCCTGAG	CCTGGGCCTGAG	-	rs763747299	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	CCTGGGCCTGAG	CCTGGGCCTGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	48	0	ENST00000317147.5:c.3065_3076del	p.Ala1022_Gln1025del	p.A1022_Q1025del	ENST00000317147	NM_016284.4	1022	gCTCAGGCCCAGGtt/gtt	0	.	.	.	.	.	-	AQAQV/V	protein_coding	YES	CCDS10799.1	3065-3076	INDELOCATOR|VARSCANI	.	CTGGAACCTGGGCCTGAGCCTGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162	.	.	ENSP00000320949	.	23/49	.	.	.	.	.	.	.	.	rs763747299	23/49	PASS	ENST00000317147	Transcript	.	.	ENSG00000125107	7877	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNOT1_HUMAN	CNOT1	HGNC	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN	.	UPI00001FF2F6	deletion	CNOT1,inframe_deletion,p.Ala1022_Gln1025del,ENST00000317147,;CNOT1,inframe_deletion,p.Ala1017_Gln1020del,ENST00000569240,;CNOT1,inframe_deletion,p.Ala1022_Gln1025del,ENST00000441024,;CNOT1,inframe_deletion,p.Ala15_Gln18del,ENST00000567285,;CNOT1,upstream_gene_variant,,ENST00000245138,;CNOT1,downstream_gene_variant,,ENST00000562046,;CNOT1,downstream_gene_variant,,ENST00000569882,;SNORA46,upstream_gene_variant,,ENST00000384762,;CNOT1,non_coding_transcript_exon_variant,,ENST00000569732,;CNOT1,inframe_deletion,p.Ala1017_Gln1020del,ENST00000567188,;	3398-3409	48	54	SUCCESS
ZFHX3	463	.	GRCh37	16	72984387	72984387	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	57	1	ENST00000268489.5:c.3197C>G	p.Ala1066Gly	p.A1066G	ENST00000268489	NM_006885.3	1066	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS10908.1	3197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCCTCG	NONE	.	.	hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208	.	.	ENSP00000268489	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Ala152Gly,ENST00000397992,;ZFHX3,missense_variant,p.Ala1066Gly,ENST00000268489,;	3870	58	73	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77323232	77323232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	33	0	ENST00000282849.5:c.3479G>A	p.Cys1160Tyr	p.C1160Y	ENST00000282849	NM_199355.2	1160	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS10926.1	3479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACAACTT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000282849	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000282849	Transcript	.	.	ENSG00000140873	17110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,missense_variant,p.Cys1160Tyr,ENST00000282849,;ADAMTS18,missense_variant,p.Cys9Tyr,ENST00000562332,;RP11-538I12.3,non_coding_transcript_exon_variant,,ENST00000561672,;	3898	33	51	SUCCESS
KRT16P3	644945	.	GRCh37	17	20407239	20407239	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	42	134	0	ENST00000580621.1:n.556C>A		p.*186*	ENST00000580621				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGGACTGT	NONE	.	3487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000587907	Transcript	.	.	ENSG00000266925	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-434D2.7	Clone_based_vega_gene	.	.	.	SNV	RP11-434D2.7,downstream_gene_variant,,ENST00000587907,;KRT16P3,non_coding_transcript_exon_variant,,ENST00000580113,;KRT16P3,non_coding_transcript_exon_variant,,ENST00000580621,;KRT16P3,upstream_gene_variant,,ENST00000584759,;KRT16P3,non_coding_transcript_exon_variant,,ENST00000439127,;KRT16P3,non_coding_transcript_exon_variant,,ENST00000536327,;	.	134	183	SUCCESS
LGALS9	3965	.	GRCh37	17	25972916	25972916	+	synonymous_variant	Silent	SNP	C	C	T	rs1201505424	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	97	117	0	ENST00000395473.2:c.606C>T	p.Ser202=	p.S202=	ENST00000395473	NM_009587.2	202	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11222.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCGCCCC	NONE	.	.	hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346	.	.	ENSP00000378856	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000395473	Transcript	.	.	ENSG00000168961	6570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEG9_HUMAN	LGALS9	HGNC	K7EPS0_HUMAN	.	UPI000012E437	SNV	LGALS9,synonymous_variant,p.%3D,ENST00000413914,;LGALS9,synonymous_variant,p.%3D,ENST00000395473,;LGALS9,synonymous_variant,p.%3D,ENST00000313648,;LGALS9,synonymous_variant,p.%3D,ENST00000584661,;LGALS9,synonymous_variant,p.%3D,ENST00000581710,;LGALS9,synonymous_variant,p.%3D,ENST00000578944,;LGALS9,synonymous_variant,p.%3D,ENST00000302228,;LGALS9,synonymous_variant,p.%3D,ENST00000310394,;LGALS9,intron_variant,,ENST00000577392,;LGALS9,downstream_gene_variant,,ENST00000448970,;LGALS9,3_prime_UTR_variant,,ENST00000580779,;LGALS9,3_prime_UTR_variant,,ENST00000467111,;LGALS9,non_coding_transcript_exon_variant,,ENST00000584386,;LGALS9,non_coding_transcript_exon_variant,,ENST00000486774,;LGALS9,non_coding_transcript_exon_variant,,ENST00000481514,;LGALS9,downstream_gene_variant,,ENST00000579930,;LGALS9,downstream_gene_variant,,ENST00000583671,;	2074	117	171	SUCCESS
CCL8	6355	.	GRCh37	17	32647344	32647344	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	27	51	0	ENST00000394620.1:c.133A>G	p.Ile45Val	p.I45V	ENST00000394620	NM_005623.2	45	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11280.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTATCCAG	BUFFER|p.P44S|c.130C>T|3	.	.	Superfamily_domains:SSF54117,SMART_domains:SM00199,Pfam_domain:PF00048,Gene3D:2.40.50.40,PROSITE_patterns:PS00472,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF74	.	.	ENSP00000378118	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000394620	Transcript	.	.	ENSG00000108700	10635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.54)	.	CCL8_HUMAN	CCL8	HGNC	H0UIC7_HUMAN	.	UPI000002FE45	SNV	CCL8,missense_variant,p.Ile45Val,ENST00000394620,;	599	51	36	SUCCESS
DCAKD	79877	.	GRCh37	17	43101864	43101864	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	26	54	0	ENST00000452796.2:c.633A>G	p.Thr211=	p.T211=	ENST00000452796	NM_001288655.1	211	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS11493.1	633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTGTGAG	NONE	.	.	hmmpanther:PTHR10695,Transmembrane_helices:TMhelix	.	.	ENSP00000413483	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000452796	Transcript	.	.	ENSG00000172992	26238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCAKD_HUMAN	DCAKD	HGNC	K7ESP4_HUMAN	.	UPI0000039E6A	SNV	DCAKD,synonymous_variant,p.%3D,ENST00000342350,;DCAKD,synonymous_variant,p.%3D,ENST00000588499,;DCAKD,synonymous_variant,p.%3D,ENST00000452796,;DCAKD,downstream_gene_variant,,ENST00000593094,;	889	54	30	SUCCESS
ABCC3	8714	.	GRCh37	17	48734480	48734480	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745705296	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	11	48	0	ENST00000285238.8:c.422G>T	p.Trp141Leu	p.W141L	ENST00000285238	NM_003786.3	141	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS32681.1	422	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGGTTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957	.	.	ENSP00000285238	.	4/31	.	.	.	.	.	.	.	.	rs745705296	4/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.424)	.	deleterious(0)	.	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Trp141Leu,ENST00000427699,;ABCC3,missense_variant,p.Trp141Leu,ENST00000285238,;ABCC3,missense_variant,p.Trp141Leu,ENST00000502426,;ABCC3,missense_variant,p.Trp141Leu,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000513511,;ABCC3,upstream_gene_variant,,ENST00000515585,;	502	48	94	SUCCESS
ABCC3	8714	.	GRCh37	17	48734481	48734481	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	11	49	0	ENST00000285238.8:c.423G>T	p.Trp141Cys	p.W141C	ENST00000285238	NM_003786.3	141	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS32681.1	423	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGTTCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957	.	.	ENSP00000285238	.	4/31	.	.	.	.	.	.	.	.	.	4/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Trp141Cys,ENST00000427699,;ABCC3,missense_variant,p.Trp141Cys,ENST00000285238,;ABCC3,missense_variant,p.Trp141Cys,ENST00000502426,;ABCC3,missense_variant,p.Trp141Cys,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000513511,;ABCC3,upstream_gene_variant,,ENST00000515585,;	503	49	93	SUCCESS
HELZ	9931	.	GRCh37	17	65144766	65144766	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	50	31	0	ENST00000358691.5:c.2540G>A	p.Arg847Gln	p.R847Q	ENST00000358691	NM_014877.3	847	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS42374.1	2540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTCGGTCA	NONE	.	.	hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887,Pfam_domain:PF13087,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000351524	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,missense_variant,p.Arg848Gln,ENST00000580168,;HELZ,missense_variant,p.Arg847Gln,ENST00000358691,;HELZ,missense_variant,p.Arg848Gln,ENST00000579953,;	2707	31	77	SUCCESS
ITGB4	3691	.	GRCh37	17	73738729	73738729	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	20	80	0	ENST00000200181.3:c.2849T>A	p.Ile950Asn	p.I950N	ENST00000200181	NM_000213.3	950	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS11727.1	2849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATCCGGC	NONE	.	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513	.	.	ENSP00000200181	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0)	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Ile950Asn,ENST00000579662,;ITGB4,missense_variant,p.Ile950Asn,ENST00000450894,;ITGB4,missense_variant,p.Ile950Asn,ENST00000339591,;ITGB4,missense_variant,p.Ile950Asn,ENST00000449880,;ITGB4,missense_variant,p.Ile950Asn,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;	3036	80	128	SUCCESS
ITGB4	3691	.	GRCh37	17	73738730	73738730	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	20	81	0	ENST00000200181.3:c.2850C>G	p.Ile950Met	p.I950M	ENST00000200181	NM_000213.3	950	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS11727.1	2850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCCGGCC	NONE	.	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513	.	.	ENSP00000200181	.	25/40	.	.	.	.	.	.	.	.	.	25/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0.01)	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Ile950Met,ENST00000579662,;ITGB4,missense_variant,p.Ile950Met,ENST00000450894,;ITGB4,missense_variant,p.Ile950Met,ENST00000339591,;ITGB4,missense_variant,p.Ile950Met,ENST00000449880,;ITGB4,missense_variant,p.Ile950Met,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;	3037	81	126	SUCCESS
TP53	7157	.	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs786201838	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	77	100	0	ENST00000269305.4:c.578A>G	p.His193Arg	p.H193R	ENST00000269305	NM_001126112.2	193	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS11118.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGATGCTGA	SITE|p.H193R|c.578A>G|8,SITE|p.H193R|c.578A>G|89,SITE|p.H61R|c.182A>G|23,SITE|p.H193R|c.578A>G|21,SITE|p.H193R|c.578A>G|22,SITE|p.H100R|c.299A>G|22,SITE|p.H193R|c.578A>G|5,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.H193fs*16|c.577_578insN|3,CODON|p.H193L|c.578A>T|8,CODON|p.H61P|c.182A>C|4,CODON|p.H100L|c.299A>T|8,CODON|p.H193L|c.578A>T|8,CODON|p.H100P|c.299A>C|4,CODON|p.H193P|c.578A>C|4,CODON|p.H193L|c.578A>T|3,CODON|p.H193L|c.578A>T|3,CODON|p.H193P|c.578A>C|16,CODON|p.H193P|c.578A>C|3,CODON|p.H193L|c.578A>T|37,CODON|p.H61L|c.182A>T|10,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.V65L|c.193G>T|3,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.V197L|c.589G>T|5,BUFFER|p.V104L|c.310G>T|3,BUFFER|p.V197L|c.589G>T|3,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193N|c.577C>A|6,BUFFER|p.H193D|c.577C>G|8,BUFFER|p.H193Y|c.577C>T|5,BUFFER|p.H193Y|c.577C>T|40,BUFFER|p.H100Y|c.298C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H61Y|c.181C>T|15,BUFFER|p.H193Y|c.577C>T|15,BUFFER|p.H193Y|c.577C>T|3,BUFFER|p.Q192H|c.576G>T|3,BUFFER|p.Q192Q|c.576G>A|3,BUFFER|p.Q192R|c.575A>G|5,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|3,BUFFER|p.P191delP|c.572_574delCTC|5,BUFFER|p.P59delP|c.176_178delCTC|3,BUFFER|p.P98delP|c.293_295delCTC|3,BUFFER|p.Q192*|c.574C>T|6,BUFFER|p.Q99*|c.295C>T|17,BUFFER|p.Q192*|c.574C>T|10,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q192*|c.574C>T|86,BUFFER|p.Q192*|c.574C>T|17,BUFFER|p.Q60*|c.178C>T|17,BUFFER|p.P191fs*56|c.571delC|3,BUFFER|p.P191L|c.572C>T|3,BUFFER|p.P191delP|c.568_570delCCT|6,BUFFER|p.P190fs*57|c.569delC|4,BUFFER|p.P190L|c.569C>T|4,BUFFER|p.P97L|c.290C>T|6,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|30,BUFFER|p.P190R|c.569C>G|3,BUFFER|p.P190L|c.569C>T|6,BUFFER|p.P190L|c.569C>T|3,BUFFER|p.P58L|c.173C>T|6,BUFFER|p.P190T|c.568C>A|4,BUFFER|p.P190S|c.568C>T|8	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM083194,CM951225,TP53_g.12647A>T,TP53_g.12647A>C,TP53_g.12647A>G,COSM10742,COSM11066,COSM43833,COSM308307,COSM99919,COSM131458,COSM131459,COSM99916,COSM308306,COSM99917,COSM308308,COSM131461,COSM3820719,COSM3970355,COSM3732881,COSM1740322,COSM2744772,COSM3970354,COSM308309,COSM131460,COSM99918	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.His193Arg,ENST00000413465,;TP53,missense_variant,p.His193Arg,ENST00000420246,;TP53,missense_variant,p.His193Arg,ENST00000269305,;TP53,missense_variant,p.His61Arg,ENST00000509690,;TP53,missense_variant,p.His193Arg,ENST00000359597,;TP53,missense_variant,p.His100Arg,ENST00000514944,;TP53,missense_variant,p.His193Arg,ENST00000445888,;TP53,missense_variant,p.His193Arg,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	768	100	95	SUCCESS
TNRC6C	57690	.	GRCh37	17	76046694	76046694	+	synonymous_variant	Silent	SNP	G	G	A	rs566391812	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	29	0	ENST00000301624.4:c.1551G>A	p.Val517=	p.V517=	ENST00000301624	NM_018996.3	517	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45799.1	1551	RADIA|SOMATICSNIPER|VARSCANS	.	GCTGTGCCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	.	.	ENSP00000336783	.	3/21	.	.	.	.	.	.	.	.	rs566391812	3/21	PASS	ENST00000335749	Transcript	.	.	ENSG00000078687	29318	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TNRC6C	HGNC	K7ELY5_HUMAN,K7EKN9_HUMAN,G3XAB8_HUMAN	.	UPI0000EE5F80	SNV	TNRC6C,synonymous_variant,p.%3D,ENST00000301624,;TNRC6C,synonymous_variant,p.%3D,ENST00000544502,;TNRC6C,synonymous_variant,p.%3D,ENST00000588061,;TNRC6C,synonymous_variant,p.%3D,ENST00000588847,;TNRC6C,synonymous_variant,p.%3D,ENST00000335749,;TNRC6C,synonymous_variant,p.%3D,ENST00000541771,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,upstream_gene_variant,,ENST00000591851,;	2120	30	48	SUCCESS
CARD14	79092	.	GRCh37	17	78176245	78176245	+	intron_variant	Intron	SNP	C	C	A	rs374347865	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	41	0	ENST00000344227.2:c.2219+26C>A		p.*740*	ENST00000344227	NM_024110.4			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS11768.1	.	MUTECT|MUSE|VARSCANS	.	CGGTGCGTCCC	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000458715	.	.	.	.	.	.	.	.	.	.	rs374347865	.	PASS	ENST00000573882	Transcript	.	.	ENSG00000141527	16446	.	.	MODIFIER	17/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAR14_HUMAN	CARD14	HGNC	I3L4Q8_HUMAN,I3L1Z7_HUMAN	.	UPI000013D81B	SNV	CARD14,3_prime_UTR_variant,,ENST00000570421,;CARD14,intron_variant,,ENST00000392434,;CARD14,intron_variant,,ENST00000573882,;CARD14,intron_variant,,ENST00000344227,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000573935,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000573346,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000570309,;RP11-334C17.5,intron_variant,,ENST00000576824,;RP11-334C17.5,downstream_gene_variant,,ENST00000572730,;CARD14,downstream_gene_variant,,ENST00000573754,;CARD14,downstream_gene_variant,,ENST00000574148,;SGSH,downstream_gene_variant,,ENST00000575484,;CARD14,intron_variant,,ENST00000575500,;CARD14,intron_variant,,ENST00000571450,;CARD14,downstream_gene_variant,,ENST00000575666,;	.	41	56	SUCCESS
COLEC12	81035	.	GRCh37	18	334785	334785	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	77	0	ENST00000400256.3:c.1773C>T	p.Pro591=	p.P591=	ENST00000400256	NM_130386.2	591	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32782.1	1773	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGGGCAC	NONE	.	.	hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19,Low_complexity_(Seg):seg	.	.	ENSP00000383115	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000400256	Transcript	.	.	ENSG00000158270	16016	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COL12_HUMAN	COLEC12	HGNC	.	.	UPI00002018EC	SNV	COLEC12,synonymous_variant,p.%3D,ENST00000400256,;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	1981	77	89	SUCCESS
SYT4	6860	.	GRCh37	18	40854347	40854347	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	13	0	ENST00000255224.3:c.47C>T	p.Thr16Ile	p.T16I	ENST00000255224	NM_020783.3	16	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11922.1	47	RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGTGGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114	.	.	ENSP00000255224	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	deleterious(0.04)	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,stop_gained,p.Gln5Ter,ENST00000593720,;SYT4,missense_variant,p.Thr16Ile,ENST00000255224,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000590752,;SYT4,non_coding_transcript_exon_variant,,ENST00000591820,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,upstream_gene_variant,,ENST00000589479,;	416	13	21	SUCCESS
PTPRM	5797	.	GRCh37	18	7888209	7888209	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	18	93	0	ENST00000332175.8:c.302A>T	p.Tyr101Phe	p.Y101F	ENST00000332175	NM_002845.3	101	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS58613.1	302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACTATTTTG	NONE	.	.	Prints_domain:PR00020,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_patterns:PS00740,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,PROSITE_profiles:PS50060	.	.	ENSP00000463325	.	3/33	.	.	.	.	.	.	.	.	.	3/33	PASS	ENST00000580170	Transcript	.	.	ENSG00000173482	9675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.13)	.	PTPRM_HUMAN	PTPRM	HGNC	Q49AC9_HUMAN	.	UPI00015CFC03	SNV	PTPRM,missense_variant,p.Tyr101Phe,ENST00000332175,;PTPRM,missense_variant,p.Tyr39Phe,ENST00000400053,;PTPRM,missense_variant,p.Tyr101Phe,ENST00000400060,;PTPRM,missense_variant,p.Tyr101Phe,ENST00000580170,;	1339	93	81	SUCCESS
SMARCA4	6597	.	GRCh37	19	11137010	11137010	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	10	78	0	ENST00000344626.4:c.3203G>T	p.Gly1068Val	p.G1068V	ENST00000344626	NM_003072.3	1068	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12253.1	3203	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGCATTG	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799	.	.	ENSP00000395654	.	24/36	.	.	.	.	.	.	.	.	COSM1494250,COSM1494249	24/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	benign(0.342)	.	.	1,1	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Gly1068Val,ENST00000450717,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000358026,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000413806,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000444061,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000541122,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000590574,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000344626,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000589677,;SMARCA4,missense_variant,p.Gly1068Val,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000592158,;SMARCA4,downstream_gene_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,downstream_gene_variant,,ENST00000587988,;	3484	78	89	SUCCESS
SAMD1	90378	.	GRCh37	19	14199510	14199510	+	synonymous_variant	Silent	SNP	C	C	T	rs1434862178	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	60	0	ENST00000533683.2:c.1113G>A	p.Pro371=	p.P371=	ENST00000533683	NM_138352.1	371	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	.	1113	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCGGGAA	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR12247,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000431971	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000533683	Transcript	.	.	ENSG00000141858	17958	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SAMD1	HGNC	F8WDT5_HUMAN,E9PIW9_HUMAN	.	UPI0000366D4A	SNV	SAMD1,synonymous_variant,p.%3D,ENST00000533683,;SAMD1,synonymous_variant,p.%3D,ENST00000269724,;C19orf67,upstream_gene_variant,,ENST00000548523,;PRKACA,downstream_gene_variant,,ENST00000590853,;C19orf67,upstream_gene_variant,,ENST00000343945,;PRKACA,downstream_gene_variant,,ENST00000589994,;PRKACA,downstream_gene_variant,,ENST00000308677,;PRKACA,downstream_gene_variant,,ENST00000587372,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;PRKACA,downstream_gene_variant,,ENST00000588209,;	1401	60	86	SUCCESS
PDE4C	5143	.	GRCh37	19	18321780	18321780	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	72	0	ENST00000355502.3:c.2098C>G	p.Pro700Ala	p.P700A	ENST00000355502		700	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS12373.1	2098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGGCCGG	NONE	.	.	.	.	.	ENSP00000347689	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000355502	Transcript	.	.	ENSG00000105650	8782	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.1)	.	PDE4C_HUMAN	PDE4C	HGNC	Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN	.	UPI0000127BF8	SNV	PDE4C,missense_variant,p.Pro470Ala,ENST00000597297,;PDE4C,missense_variant,p.Pro700Ala,ENST00000594465,;PDE4C,missense_variant,p.Pro700Ala,ENST00000594617,;PDE4C,missense_variant,p.Pro668Ala,ENST00000262805,;PDE4C,missense_variant,p.Pro594Ala,ENST00000447275,;PDE4C,missense_variant,p.Pro415Ala,ENST00000598111,;PDE4C,missense_variant,p.Pro700Ala,ENST00000355502,;PDE4C,missense_variant,p.Pro469Ala,ENST00000539010,;AC068499.10,intron_variant,,ENST00000594805,;AC068499.10,downstream_gene_variant,,ENST00000599416,;PDE4C,3_prime_UTR_variant,,ENST00000599188,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;	2970	72	83	SUCCESS
GATAD2A	54815	.	GRCh37	19	19612809	19612809	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	26	0	ENST00000358713.3:c.1532G>T	p.Arg511Leu	p.R511L	ENST00000358713		511	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12402.2	1532	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGCTCAG	NONE	.	.	hmmpanther:PTHR13455,hmmpanther:PTHR13455:SF3	.	.	ENSP00000353463	.	10/12	.	.	.	.	.	.	.	.	COSM3796843,COSM3796842,COSM3796844	10/12	PASS	ENST00000360315	Transcript	.	.	ENSG00000167491	29989	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1	.	.	benign(0.004)	.	tolerated(0.36)	1,1,1	P66A_HUMAN	GATAD2A	HGNC	C9JVY3_HUMAN,C9JMI3_HUMAN,C9JJK9_HUMAN,C9JHD7_HUMAN,C9JGN4_HUMAN	.	UPI000000D88C	SNV	GATAD2A,missense_variant,p.Arg512Leu,ENST00000404158,;GATAD2A,missense_variant,p.Arg140Leu,ENST00000537887,;GATAD2A,missense_variant,p.Arg511Leu,ENST00000358713,;GATAD2A,missense_variant,p.Arg511Leu,ENST00000360315,;GATAD2A,intron_variant,,ENST00000429563,;GATAD2A,intron_variant,,ENST00000252577,;GATAD2A,3_prime_UTR_variant,,ENST00000609040,;GATAD2A,intron_variant,,ENST00000418032,;	1844	26	32	SUCCESS
ZNF257	113835	.	GRCh37	19	22271140	22271141	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	22	0	ENST00000594947.1:c.588_589del	p.Ile196MetfsTer8	p.I196Mfs*8	ENST00000594947	NM_033468.2	196	atTAga/atga	0	.	.	.	.	.	-	IR/MX	protein_coding	YES	CCDS46030.1	588-589	INDELOCATOR|VARSCANI	.	TCATATTAGAGAG	BUFFER|p.R193K|c.578G>A|3	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000470209	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000594947	Transcript	.	.	ENSG00000197134	13498	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN257_HUMAN	ZNF257	HGNC	M0R0N1_HUMAN	.	UPI0000E045CA	deletion	ZNF257,frameshift_variant,p.Ile120MetfsTer8,ENST00000597927,;ZNF257,frameshift_variant,p.Ile196MetfsTer8,ENST00000594947,;ZNF257,3_prime_UTR_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;	732-733	22	40	SUCCESS
ZNF728	388523	.	GRCh37	19	23159202	23159202	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	9	0	ENST00000594710.1:c.937A>G	p.Lys313Glu	p.K313E	ENST00000594710	NM_001267716.1	313	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS59370.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ACATTTGTAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF153,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000471593	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000594710	Transcript	.	.	ENSG00000269067	32463	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	deleterious(0.03)	.	ZN728_HUMAN	ZNF728	HGNC	.	.	UPI0002656E4B	SNV	ZNF728,missense_variant,p.Lys313Glu,ENST00000594710,;ZNF728,downstream_gene_variant,,ENST00000599851,;	1083	9	14	SUCCESS
PPAP2C	0	.	GRCh37	19	291305	291305	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	42	0	ENST00000434325.2:c.-117+21A>G		p.*39*	ENST00000434325				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12024.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCACGTCGAGC	NONE	.	135	.	.	.	ENSP00000329697	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,missense_variant,p.Asp11Gly,ENST00000269812,;PPAP2C,missense_variant,p.Asp11Gly,ENST00000591572,;PPAP2C,intron_variant,,ENST00000434325,;PPAP2C,upstream_gene_variant,,ENST00000327790,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,upstream_gene_variant,,ENST00000589672,;	.	42	86	SUCCESS
CELF5	60680	.	GRCh37	19	3285980	3285980	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758405642	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	13	0	ENST00000292672.2:c.1143C>A	p.Ser381Arg	p.S381R	ENST00000292672	NM_021938.3	381	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS12106.1	1143	MUTECT|MUSE	.	CACAGCGTCCC	NONE	.	.	hmmpanther:PTHR24622	.	.	ENSP00000292672	.	10/13	.	.	.	.	.	.	.	.	rs758405642	10/13	PASS	ENST00000292672	Transcript	.	.	ENSG00000161082	14058	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	deleterious(0.03)	.	CELF5_HUMAN	CELF5	HGNC	.	.	UPI00000705EC	SNV	CELF5,missense_variant,p.Ser356Arg,ENST00000541430,;CELF5,missense_variant,p.Ser381Arg,ENST00000292672,;CELF5,non_coding_transcript_exon_variant,,ENST00000586050,;CELF5,non_coding_transcript_exon_variant,,ENST00000588101,;CELF5,downstream_gene_variant,,ENST00000589370,;CELF5,missense_variant,p.Ser267Arg,ENST00000334293,;CELF5,missense_variant,p.Ser242Arg,ENST00000588350,;CELF5,non_coding_transcript_exon_variant,,ENST00000591483,;	1180	13	17	SUCCESS
MAG	4099	.	GRCh37	19	35800910	35800919	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCGAGCGG	GAGCGAGCGG	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	GAGCGAGCGG	GAGCGAGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	50	0	ENST00000392213.3:c.1368_1377del	p.Glu457SerfsTer50	p.E457Sfs*50	ENST00000392213	NM_002361.3	455	gaGAGCGAGCGG/ga	0	.	.	.	.	.	-	ESER/X	protein_coding	YES	CCDS12455.1	1365-1374	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACGAGAGCGAGCGGGAGTT	BUFFER|p.F460F|c.1380C>T|3,BUFFER|p.F460F|c.1380C>T|3	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Superfamily_domains:SSF48726	.	.	ENSP00000376048	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000392213	Transcript	.	.	ENSG00000105695	6783	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAG_HUMAN	MAG	HGNC	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN	.	UPI000012EB2F	deletion	MAG,frameshift_variant,p.Glu457SerfsTer50,ENST00000392213,;MAG,frameshift_variant,p.Glu432SerfsTer50,ENST00000537831,;MAG,frameshift_variant,p.Glu457SerfsTer50,ENST00000361922,;MAG,non_coding_transcript_exon_variant,,ENST00000593348,;MAG,upstream_gene_variant,,ENST00000597162,;	1524-1533	50	47	SUCCESS
KRTDAP	388533	.	GRCh37	19	35978347	35978347	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	44	0	ENST00000338897.3:c.283del	p.Thr95LeufsTer17	p.T95Lfs*17	ENST00000338897	NM_207392.2	95	Act/ct	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS12462.1	283	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGAGTTGCGC	NONE	.	.	Pfam_domain:PF15200	.	.	ENSP00000339251	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000338897	Transcript	.	.	ENSG00000188508	16313	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KTDAP_HUMAN	KRTDAP	HGNC	.	.	UPI0000035979	deletion	KRTDAP,frameshift_variant,p.Thr95LeufsTer17,ENST00000338897,;KRTDAP,frameshift_variant,p.Thr81LeufsTer17,ENST00000484218,;KRTDAP,non_coding_transcript_exon_variant,,ENST00000479340,;	372	44	89	SUCCESS
FCGBP	8857	.	GRCh37	19	40364247	40364247	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1419034147	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	19	35	0	ENST00000221347.6:c.14395C>T	p.Arg4799Cys	p.R4799C	ENST00000221347	NM_003890.2	4799	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12546.1	14395	RADIA|MUTECT|MUSE	.	GTAGCGGCCAT	NONE	.	.	Gene3D:2.10.25.10,Pfam_domain:PF12714,SMART_domains:SM00215	.	.	ENSP00000221347	.	31/36	.	.	.	.	.	.	.	.	.	31/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.964)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Arg4799Cys,ENST00000221347,;	14403	35	78	SUCCESS
PSG3	5671	.	GRCh37	19	43237165	43237165	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777243753	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	45	0	ENST00000327495.5:c.480G>T	p.Glu160Asp	p.E160D	ENST00000327495	NM_021016.3	160	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS12611.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCTCCCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332215	.	3/7	.	.	.	.	.	.	.	.	rs777243753,COSM3534875	3/7	PASS	ENST00000327495	Transcript	.	.	ENSG00000221826	9520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.983)	.	deleterious(0.01)	0,1	PSG3_HUMAN	PSG3	HGNC	.	.	UPI0000073DC1	SNV	PSG3,missense_variant,p.Glu160Asp,ENST00000595140,;PSG3,missense_variant,p.Glu160Asp,ENST00000327495,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;	665	45	58	SUCCESS
FUT1	2523	.	GRCh37	19	49253497	49253497	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs764739319	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	21	0	ENST00000310160.3:c.1042G>T	p.Glu348Ter	p.E348*	ENST00000310160	NM_000148.3	348	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS12733.1	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCGGGCA	NONE	byFrequency	.	hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4,Pfam_domain:PF01531	.	.	ENSP00000312021	.	4/4	.	.	.	.	.	.	.	.	CM970544,rs764739319	4/4	PASS	ENST00000310160	Transcript	1	.	ENSG00000174951	4012	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,0	.	.	.	.	.	.	FUT1_HUMAN	FUT1	HGNC	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN	.	UPI00000338F8	SNV	FUT1,stop_gained,p.Glu348Ter,ENST00000310160,;IZUMO1,upstream_gene_variant,,ENST00000602105,;IZUMO1,upstream_gene_variant,,ENST00000332955,;FUT1,downstream_gene_variant,,ENST00000601931,;FUT1,downstream_gene_variant,,ENST00000601988,;FUT1,downstream_gene_variant,,ENST00000599826,;FUT1,downstream_gene_variant,,ENST00000597220,;IZUMO1,upstream_gene_variant,,ENST00000595937,;IZUMO1,upstream_gene_variant,,ENST00000595517,;IZUMO1,upstream_gene_variant,,ENST00000597553,;	2017	21	42	SUCCESS
TRPM4	54795	.	GRCh37	19	49686109	49686109	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	54	0	ENST00000252826.5:c.1538A>T	p.Lys513Met	p.K513M	ENST00000252826	NM_017636.3	513	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS33073.1	1538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAAGATGT	NONE	.	.	hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800	.	.	ENSP00000252826	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000252826	Transcript	1	.	ENSG00000130529	17993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0)	.	TRPM4_HUMAN	TRPM4	HGNC	.	.	UPI0000070598	SNV	TRPM4,missense_variant,p.Lys159Met,ENST00000355712,;TRPM4,missense_variant,p.Lys513Met,ENST00000427978,;TRPM4,missense_variant,p.Lys513Met,ENST00000252826,;TRPM4,downstream_gene_variant,,ENST00000601347,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;	1664	54	62	SUCCESS
SNORD33	26818	.	GRCh37	19	49993944	49993944	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	25	44	0	ENST00000362761.1:n.73C>T		p.*25*	ENST00000362761	NR_000020.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12768.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACCATCTG	NONE	.	.	.	.	.	ENSP00000375730	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000391857	Transcript	.	.	ENSG00000142541	10304	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL13A_HUMAN	RPL13A	HGNC	Q9BSQ6_HUMAN,Q8J015_HUMAN	.	UPI000013D896	SNV	RPL13A,intron_variant,,ENST00000467825,;RPL13A,intron_variant,,ENST00000391857,;FLT3LG,downstream_gene_variant,,ENST00000598555,;FLT3LG,downstream_gene_variant,,ENST00000600429,;FLT3LG,downstream_gene_variant,,ENST00000597551,;FLT3LG,downstream_gene_variant,,ENST00000204637,;FLT3LG,downstream_gene_variant,,ENST00000596435,;FLT3LG,downstream_gene_variant,,ENST00000594009,;SNORD33,non_coding_transcript_exon_variant,,ENST00000362761,;SNORD35A,upstream_gene_variant,,ENST00000363389,;SNORD34,upstream_gene_variant,,ENST00000365633,;SNORD32A,downstream_gene_variant,,ENST00000364805,;RPL13A,intron_variant,,ENST00000477613,;CTD-3148I10.15,downstream_gene_variant,,ENST00000595815,;RPL13A,non_coding_transcript_exon_variant,,ENST00000488946,;RPL13A,non_coding_transcript_exon_variant,,ENST00000476268,;RPL13A,non_coding_transcript_exon_variant,,ENST00000468655,;RPL13A,intron_variant,,ENST00000486930,;RPL13A,intron_variant,,ENST00000474171,;RPL13A,intron_variant,,ENST00000484279,;RPL13A,intron_variant,,ENST00000472481,;RPL13A,intron_variant,,ENST00000479992,;FLT3LG,downstream_gene_variant,,ENST00000600084,;FLT3LG,downstream_gene_variant,,ENST00000601800,;FLT3LG,downstream_gene_variant,,ENST00000598472,;RPL13A,upstream_gene_variant,,ENST00000476300,;CTD-3148I10.9,downstream_gene_variant,,ENST00000599536,;	.	44	89	SUCCESS
PRR12	57479	.	GRCh37	19	50119469	50119469	+	synonymous_variant	Silent	SNP	C	C	T	rs200097233	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	25	0	ENST00000418929.2:c.5490C>T	p.Ser1830=	p.S1830=	ENST00000418929	NM_020719.1	1830	agC/agT	0	T:0.0005	T:0.0015	.	T:0.0043	.	T	S	protein_coding	YES	CCDS46143.1	5490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGAGGA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14709:SF1,hmmpanther:PTHR14709,Pfam_domain:PF13926	T:0	T:0	ENSP00000394510	T:0	9/14	.	.	.	.	.	.	.	.	rs200097233	9/14	PASS	ENST00000418929	Transcript	.	T:0.0010	ENSG00000126464	29217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PRR12_HUMAN	PRR12	HGNC	.	.	UPI0001596889	SNV	PRR12,synonymous_variant,p.%3D,ENST00000418929,;PRR12,upstream_gene_variant,,ENST00000593853,;	5502	25	53	SUCCESS
ATF5	22809	.	GRCh37	19	50436140	50436141	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	82	59	68	0	ENST00000423777.2:c.640_641del	p.Lys214GlufsTer20	p.K214Efs*20	ENST00000423777	NM_001193646.1	214	AAg/g	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS12789.1	640-641	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAAAGAAGAGAG	NONE	.	.	PROSITE_profiles:PS50217,hmmpanther:PTHR13044:SF3,hmmpanther:PTHR13044,Gene3D:1.20.5.170,Pfam_domain:PF00170,SMART_domains:SM00338	.	.	ENSP00000396954	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000423777	Transcript	.	.	ENSG00000169136	790	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATF5_HUMAN	ATF5	HGNC	M0R040_HUMAN,M0QZD2_HUMAN	.	UPI000003842F	deletion	ATF5,frameshift_variant,p.Lys214GlufsTer20,ENST00000423777,;ATF5,frameshift_variant,p.Lys214GlufsTer20,ENST00000595125,;ATF5,downstream_gene_variant,,ENST00000597227,;NUP62,upstream_gene_variant,,ENST00000422090,;IL4I1,upstream_gene_variant,,ENST00000597295,;ATF5,downstream_gene_variant,,ENST00000600336,;IL4I1,upstream_gene_variant,,ENST00000596022,;IL4I1,upstream_gene_variant,,ENST00000341114,;NUP62,upstream_gene_variant,,ENST00000599567,;NUP62,upstream_gene_variant,,ENST00000594673,;NUP62,upstream_gene_variant,,ENST00000413454,;NUP62,upstream_gene_variant,,ENST00000597723,;IL4I1,upstream_gene_variant,,ENST00000596011,;NUP62,upstream_gene_variant,,ENST00000596437,;ATF5,downstream_gene_variant,,ENST00000596658,;NUP62,upstream_gene_variant,,ENST00000596217,;NUP62,upstream_gene_variant,,ENST00000599788,;NUP62,upstream_gene_variant,,ENST00000596680,;IL4I1,upstream_gene_variant,,ENST00000595948,;NUP62,upstream_gene_variant,,ENST00000352066,;NUP62,upstream_gene_variant,,ENST00000597029,;NUP62,upstream_gene_variant,,ENST00000593652,;NUP62,upstream_gene_variant,,ENST00000600935,;MIR4751,upstream_gene_variant,,ENST00000578027,;NUP62,upstream_gene_variant,,ENST00000599830,;NUP62,upstream_gene_variant,,ENST00000601665,;NUP62,upstream_gene_variant,,ENST00000595463,;NUP62,upstream_gene_variant,,ENST00000599560,;NUP62,upstream_gene_variant,,ENST00000600583,;NUP62,upstream_gene_variant,,ENST00000597814,;NUP62,upstream_gene_variant,,ENST00000599186,;NUP62,upstream_gene_variant,,ENST00000598301,;CTC-326K19.6,intron_variant,,ENST00000451973,;IL4I1,upstream_gene_variant,,ENST00000601717,;	1017-1018	68	141	SUCCESS
SIGLECL1	284369	.	GRCh37	19	51770635	51770635	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1269710984	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	9	0	ENST00000316401.7:c.419A>G	p.His140Arg	p.H140R	ENST00000316401	NM_173635.1	140	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS12827.1	419	MUTECT|MUSE	.	GAAACATATCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12035	.	.	ENSP00000321249	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000316401	Transcript	.	.	ENSG00000179213	26856	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.38)	.	SIGL1_HUMAN	SIGLECL1	HGNC	M0QY54_HUMAN,M0QY48_HUMAN	.	UPI000006D35D	SNV	SIGLECL1,missense_variant,p.His46Arg,ENST00000597824,;SIGLECL1,missense_variant,p.His140Arg,ENST00000597610,;SIGLECL1,missense_variant,p.His140Arg,ENST00000316401,;SIGLECL1,downstream_gene_variant,,ENST00000596117,;SIGLECL1,downstream_gene_variant,,ENST00000601727,;CTD-3187F8.11,upstream_gene_variant,,ENST00000594261,;CTD-3187F8.11,upstream_gene_variant,,ENST00000595566,;CTD-3187F8.11,upstream_gene_variant,,ENST00000600813,;CTD-3187F8.2,intron_variant,,ENST00000597569,;SIGLECL1,non_coding_transcript_exon_variant,,ENST00000593968,;SIGLECL1,downstream_gene_variant,,ENST00000599553,;	800	9	12	SUCCESS
ZNF468	90333	.	GRCh37	19	53344538	53344538	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772352377	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	40	0	ENST00000595646.1:c.1009G>A	p.Ala337Thr	p.A337T	ENST00000595646		337	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33094.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGCGAAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF14,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000470381	.	4/4	.	.	.	.	.	.	.	.	rs772352377,COSM1000666	4/4	PASS	ENST00000595646	Transcript	.	.	ENSG00000204604	33105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	.	tolerated(0.37)	0,1	ZN468_HUMAN	ZNF468	HGNC	.	.	UPI00001D8191	SNV	ZNF468,missense_variant,p.Ala284Thr,ENST00000390651,;ZNF468,missense_variant,p.Ala284Thr,ENST00000396409,;ZNF468,missense_variant,p.Ala337Thr,ENST00000595646,;ZNF468,3_prime_UTR_variant,,ENST00000243639,;ZNF28,intron_variant,,ENST00000596559,;ZNF28,intron_variant,,ENST00000594602,;ZNF468,downstream_gene_variant,,ENST00000601847,;ZNF468,downstream_gene_variant,,ENST00000597924,;ZNF468,downstream_gene_variant,,ENST00000601980,;ZNF468,downstream_gene_variant,,ENST00000602144,;	1130	40	58	SUCCESS
ZNF845	91664	.	GRCh37	19	53848860	53848860	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	29	0	ENST00000458035.1:c.117G>A	p.Glu39=	p.E39=	ENST00000458035	NM_138374.1	39	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS46170.1	117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGAATTA	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50805	.	.	ENSP00000388311	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,synonymous_variant,p.%3D,ENST00000595091,;ZNF845,synonymous_variant,p.%3D,ENST00000458035,;ZNF845,synonymous_variant,p.%3D,ENST00000601857,;	234	29	54	SUCCESS
LILRA6	79168	.	GRCh37	19	54745481	54745481	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	331	10	303	0	ENST00000396365.2:c.629C>A	p.Pro210His	p.P210H	ENST00000396365	NM_024318.2	210	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS42610.1	629	MUTECT|MUSE	.	CACTGGGGTGG	NONE	.	.	Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738	.	.	ENSP00000379651	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000396365	Transcript	.	.	ENSG00000244482	15495	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LIRA6_HUMAN	LILRA6	HGNC	.	.	UPI000022A9CA	SNV	LILRA6,missense_variant,p.Pro210His,ENST00000245621,;LILRA6,missense_variant,p.Pro210His,ENST00000270464,;LILRA6,missense_variant,p.Pro210His,ENST00000440558,;LILRA6,missense_variant,p.Pro210His,ENST00000396365,;LILRA6,missense_variant,p.Pro210His,ENST00000419410,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;LILRA6,intron_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;	669	303	342	SUCCESS
NLRP9	338321	.	GRCh37	19	56223244	56223244	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	51	86	0	ENST00000332836.2:c.2765G>C	p.Trp922Ser	p.W922S	ENST00000332836	NM_176820.2	922	tGg/tCg	0	.	.	.	.	.	G	W/S	protein_coding	YES	CCDS12934.1	2765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCCAGTCG	NONE	.	.	hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000331857	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000332836	Transcript	.	.	ENSG00000185792	22941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious(0.02)	.	NALP9_HUMAN	NLRP9	HGNC	.	.	UPI00001B6B39	SNV	NLRP9,missense_variant,p.Trp922Ser,ENST00000590200,;NLRP9,missense_variant,p.Trp922Ser,ENST00000332836,;EPN1,downstream_gene_variant,,ENST00000589704,;CTD-2611O12.8,downstream_gene_variant,,ENST00000596293,;CTD-2611O12.7,downstream_gene_variant,,ENST00000597680,;CTD-2611O12.6,downstream_gene_variant,,ENST00000600582,;CTD-2611O12.6,downstream_gene_variant,,ENST00000596381,;CTD-2611O12.6,downstream_gene_variant,,ENST00000597650,;	2793	86	143	SUCCESS
ZNF586	54807	.	GRCh37	19	58290644	58290644	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1403456500	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	37	0	ENST00000396154.2:c.689G>T	p.Gly230Val	p.G230V	ENST00000396154	NM_017652.3	230	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS42640.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGAGAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF34,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000379458	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396154	Transcript	.	.	ENSG00000083828	25949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN586_HUMAN	ZNF586	HGNC	.	.	UPI0000202D48	SNV	ZNF586,stop_gained,p.Glu188Ter,ENST00000396150,;ZNF586,missense_variant,p.Gly187Val,ENST00000391702,;ZNF586,missense_variant,p.Gly230Val,ENST00000396154,;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;	862	37	51	SUCCESS
A1BG	1	.	GRCh37	19	58861838	58861840	+	inframe_deletion	In_Frame_Del	DEL	TGT	TGT	-	rs747978325	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	TGT	TGT	.	.	.	.	.	.	.	.	.	.	.	.	.	118	48	56	0	ENST00000263100.3:c.1088_1090del	p.Asn363del	p.N363del	ENST00000263100	NM_130786.3	363	aACAtt/att	0	.	.	.	.	.	-	NI/I	protein_coding	YES	CCDS12976.1	1088-1090	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGAAATGTTGTGC	NONE	byFrequency	.	hmmpanther:PTHR11738:SF3,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF001979,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000263100	.	6/8	.	.	.	.	.	.	.	.	rs747978325	6/8	PASS	ENST00000263100	Transcript	.	.	ENSG00000121410	5	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A1BG_HUMAN	A1BG	HGNC	Q7Z3U3_HUMAN	.	UPI0000167B10	deletion	A1BG,inframe_deletion,p.Asn363del,ENST00000263100,;A1BG,downstream_gene_variant,,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;A1BG-AS1,upstream_gene_variant,,ENST00000595302,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	1150-1152	56	166	SUCCESS
POLRMT	5442	.	GRCh37	19	633529	633530	+	5_prime_UTR_variant	5'UTR	INS	-	-	GCGCCGCCGCCGCC	rs144095976	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	9	0	ENST00000588649.2:c.-18_-17insGGCGGCGGCGGCGC		p.*6*	ENST00000588649	NM_005035.3			0	.	.	.	.	.	GCGCCGCCGCCGCC	.	protein_coding	YES	CCDS12036.1	.	INDELOCATOR|VARSCANI	.	CTCCAGGCCAC	NONE	byFrequency|byCluster|by1000G	.	.	.	.	ENSP00000465759	.	1/21	.	.	.	.	.	.	.	.	rs144095976	1/21	PASS	ENST00000588649	Transcript	.	GCGCCGCCGCCGCCGCCGCCGCC:0.0895	ENSG00000099821	9200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPOM_HUMAN	POLRMT	HGNC	.	.	UPI000013C68E	insertion	POLRMT,5_prime_UTR_variant,,ENST00000588649,;POLRMT,upstream_gene_variant,,ENST00000590573,;AC004449.6,downstream_gene_variant,,ENST00000564240,;POLRMT,upstream_gene_variant,,ENST00000592863,;POLRMT,upstream_gene_variant,,ENST00000607260,;	68-69	9	46	SUCCESS
MUC16	94025	.	GRCh37	19	9071326	9071326	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	64	0	ENST00000397910.4:c.16120G>T	p.Val5374Leu	p.V5374L	ENST00000397910	NM_024690.2	5374	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS54212.1	16120	RADIA|MUTECT|MUSE	.	TGTCACCAGAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Val5374Leu,ENST00000397910,;	16324	64	98	SUCCESS
MUC16	94025	.	GRCh37	19	9071328	9071328	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	67	0	ENST00000397910.4:c.16118T>G	p.Leu5373Arg	p.L5373R	ENST00000397910	NM_024690.2	5373	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS54212.1	16118	RADIA|MUTECT|MUSE	.	TCACCAGAACA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu5373Arg,ENST00000397910,;	16322	67	100	SUCCESS
MXRA8	54587	.	GRCh37	1	1293887	1293887	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs903532810	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	51	108	0	ENST00000309212.6:c.-3G>A		p.*1*	ENST00000309212	NM_032348.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS24.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGCCCCCG	NONE	.	.	.	.	.	ENSP00000307887	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000309212	Transcript	.	.	ENSG00000162576	7542	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MXRA8_HUMAN	MXRA8	HGNC	.	.	UPI000003ED26	SNV	MXRA8,5_prime_UTR_variant,,ENST00000342753,;MXRA8,5_prime_UTR_variant,,ENST00000445648,;MXRA8,5_prime_UTR_variant,,ENST00000309212,;MXRA8,intron_variant,,ENST00000477278,;MXRA8,upstream_gene_variant,,ENST00000464351,;MXRA8,upstream_gene_variant,,ENST00000474033,;MXRA8,upstream_gene_variant,,ENST00000460473,;MXRA8,upstream_gene_variant,,ENST00000473097,;MXRA8,upstream_gene_variant,,ENST00000476718,;MXRA8,upstream_gene_variant,,ENST00000478517,;	29	108	122	SUCCESS
SELENBP1	8991	.	GRCh37	1	151345141	151345141	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	49	0	ENST00000368868.5:c.-24G>T		p.*8*	ENST00000368868	NM_003944.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS995.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCCCGGC	NONE	.	.	.	.	.	ENSP00000357861	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000368868	Transcript	.	.	ENSG00000143416	10719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBP1_HUMAN	SELENBP1	HGNC	C9JVL0_HUMAN	.	UPI000007300D	SNV	SELENBP1,5_prime_UTR_variant,,ENST00000368868,;SELENBP1,5_prime_UTR_variant,,ENST00000435071,;SELENBP1,5_prime_UTR_variant,,ENST00000447402,;SELENBP1,5_prime_UTR_variant,,ENST00000458566,;SELENBP1,5_prime_UTR_variant,,ENST00000426705,;SELENBP1,upstream_gene_variant,,ENST00000427867,;SELENBP1,upstream_gene_variant,,ENST00000424475,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000473693,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000498494,;SELENBP1,5_prime_UTR_variant,,ENST00000455397,;SELENBP1,5_prime_UTR_variant,,ENST00000423070,;SELENBP1,5_prime_UTR_variant,,ENST00000455839,;SELENBP1,5_prime_UTR_variant,,ENST00000443708,;SELENBP1,5_prime_UTR_variant,,ENST00000427977,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000492643,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000470345,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000474352,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000493560,;SELENBP1,non_coding_transcript_exon_variant,,ENST00000463664,;SELENBP1,upstream_gene_variant,,ENST00000465273,;	69	49	97	SUCCESS
RAB25	57111	.	GRCh37	1	156039508	156039508	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	44	118	0	ENST00000361084.5:c.480C>G	p.Thr160=	p.T160=	ENST00000361084	NM_020387.2	160	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS41413.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACCAATGT	NONE	.	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,hmmpanther:PTHR24073:SF319,hmmpanther:PTHR24073,PROSITE_profiles:PS51419	.	.	ENSP00000354376	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000361084	Transcript	.	.	ENSG00000132698	18238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB25_HUMAN	RAB25	HGNC	.	.	UPI0000073C4C	SNV	RAB25,synonymous_variant,p.%3D,ENST00000361084,;MEX3A,downstream_gene_variant,,ENST00000532414,;RAB25,non_coding_transcript_exon_variant,,ENST00000473336,;RAB25,non_coding_transcript_exon_variant,,ENST00000497968,;RAB25,non_coding_transcript_exon_variant,,ENST00000487325,;RAB25,downstream_gene_variant,,ENST00000463614,;	721	118	172	SUCCESS
CCT3	7203	.	GRCh37	1	156294772	156294772	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	24	34	0	ENST00000295688.3:c.413A>G	p.Lys138Arg	p.K138R	ENST00000295688	NM_005998.4	138	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS1140.2	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTTTAGG	NONE	.	.	hmmpanther:PTHR11353:SF63,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Gene3D:1.10.560.10,Superfamily_domains:SSF48592	.	.	ENSP00000295688	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000295688	Transcript	.	.	ENSG00000163468	1616	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.15)	.	TCPG_HUMAN	CCT3	HGNC	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN	.	UPI000040EEFE	SNV	CCT3,missense_variant,p.Lys124Arg,ENST00000446905,;CCT3,missense_variant,p.Lys59Arg,ENST00000533194,;CCT3,missense_variant,p.Lys137Arg,ENST00000496684,;CCT3,missense_variant,p.Lys162Arg,ENST00000413555,;CCT3,missense_variant,p.Lys93Arg,ENST00000368261,;CCT3,missense_variant,p.Lys100Arg,ENST00000368259,;CCT3,missense_variant,p.Lys93Arg,ENST00000472765,;CCT3,missense_variant,p.Lys117Arg,ENST00000478640,;CCT3,missense_variant,p.Lys138Arg,ENST00000295688,;CCT3,missense_variant,p.Lys161Arg,ENST00000415548,;CCT3,non_coding_transcript_exon_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;AL589685.1,downstream_gene_variant,,ENST00000416812,;	694	34	39	SUCCESS
OR6P1	128366	.	GRCh37	1	158532535	158532535	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745758529	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	29	71	0	ENST00000334632.1:c.860C>A	p.Pro287Gln	p.P287Q	ENST00000334632	NM_001160325.1	287	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS53391.1	860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGGGTTG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000334721	.	1/1	.	.	.	.	.	.	.	.	rs745758529	1/1	PASS	ENST00000334632	Transcript	.	.	ENSG00000186440	15036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OR6P1_HUMAN	OR6P1	HGNC	.	.	UPI000004B1FF	SNV	OR6P1,missense_variant,p.Pro287Gln,ENST00000334632,;	860	71	124	SUCCESS
KLHDC9	126823	.	GRCh37	1	161068351	161068351	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751352366	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	26	56	0	ENST00000368011.4:c.26G>T	p.Arg9Leu	p.R9L	ENST00000368011	NM_152366.4	9	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS30919.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCGGGCCG	NONE	byFrequency	.	hmmpanther:PTHR23244:SF272,hmmpanther:PTHR23244	.	.	ENSP00000356990	.	1/4	.	.	.	.	.	.	.	.	rs751352366	1/4	PASS	ENST00000368011	Transcript	.	.	ENSG00000162755	28489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.19)	.	KLDC9_HUMAN	KLHDC9	HGNC	D3DVF3_HUMAN	.	UPI0000420905	SNV	KLHDC9,missense_variant,p.Arg9Leu,ENST00000392192,;KLHDC9,missense_variant,p.Arg9Leu,ENST00000368011,;PFDN2,downstream_gene_variant,,ENST00000368010,;KLHDC9,intron_variant,,ENST00000494418,;KLHDC9,intron_variant,,ENST00000469647,;KLHDC9,intron_variant,,ENST00000490724,;KLHDC9,intron_variant,,ENST00000392191,;PFDN2,downstream_gene_variant,,ENST00000468311,;KLHDC9,intron_variant,,ENST00000471613,;KLHDC9,upstream_gene_variant,,ENST00000475934,;	168	56	110	SUCCESS
SFT2D2	375035	.	GRCh37	1	168204373	168204373	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	105	121	0	ENST00000271375.4:c.271A>T	p.Lys91Ter	p.K91*	ENST00000271375	NM_199344.2	91	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS1271.1	271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGAAGCGA	NONE	.	.	hmmpanther:PTHR23137,hmmpanther:PTHR23137:SF1,Pfam_domain:PF04178	.	.	ENSP00000271375	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000271375	Transcript	.	.	ENSG00000213064	25140	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFT2B_HUMAN	SFT2D2	HGNC	.	.	UPI0000072549	SNV	SFT2D2,stop_gained,p.Lys91Ter,ENST00000271375,;SFT2D2,intron_variant,,ENST00000367829,;SFT2D2,intron_variant,,ENST00000367825,;SFT2D2,non_coding_transcript_exon_variant,,ENST00000471981,;	343	121	190	SUCCESS
ASTN1	460	.	GRCh37	1	176905453	176905453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	42	0	ENST00000361833.2:c.2431G>T	p.Val811Phe	p.V811F	ENST00000361833		811	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS1319.1	2431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGACCTTCC	NONE	.	.	SMART_domains:SM00457,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.512)	.	deleterious(0)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Val819Phe,ENST00000367654,;ASTN1,missense_variant,p.Val811Phe,ENST00000424564,;ASTN1,missense_variant,p.Val811Phe,ENST00000361833,;ASTN1,missense_variant,p.Val811Phe,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	2445	42	89	SUCCESS
RASAL2	9462	.	GRCh37	1	178427346	178427346	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	41	0	ENST00000462775.1:c.2496A>G	p.Glu832=	p.E832=	ENST00000462775	NM_004841.3	832	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1321.2	2919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAGATTT	NONE	.	.	hmmpanther:PTHR10194:SF52,hmmpanther:PTHR10194,Pfam_domain:PF12004	.	.	ENSP00000356621	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000367649	Transcript	.	.	ENSG00000075391	9874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGAP_HUMAN	RASAL2	HGNC	Q8IW42_HUMAN,Q6P4F9_HUMAN	.	UPI00019B254F	SNV	RASAL2,synonymous_variant,p.%3D,ENST00000462775,;RASAL2,synonymous_variant,p.%3D,ENST00000367649,;RASAL2,synonymous_variant,p.%3D,ENST00000448150,;RASAL2,synonymous_variant,p.%3D,ENST00000433130,;RASAL2,downstream_gene_variant,,ENST00000463079,;	3271	41	57	SUCCESS
LAMC2	3918	.	GRCh37	1	183209512	183209512	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs901074396	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	10	86	0	ENST00000264144.4:c.3314T>A	p.Leu1105His	p.L1105H	ENST00000264144	NM_005562.2	1105	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS1352.1	3314	MUTECT|MUSE	.	CGGCCTCCTGC	NONE	.	.	hmmpanther:PTHR10574:SF79,hmmpanther:PTHR10574	.	.	ENSP00000264144	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000264144	Transcript	.	.	ENSG00000058085	6493	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.664)	.	deleterious(0)	.	LAMC2_HUMAN	LAMC2	HGNC	.	.	UPI000013D4CA	SNV	LAMC2,missense_variant,p.Leu1105His,ENST00000264144,;LAMC2,missense_variant,p.Leu1105His,ENST00000493293,;LAMC2,non_coding_transcript_exon_variant,,ENST00000461729,;LAMC2,upstream_gene_variant,,ENST00000476255,;	3379	86	121	SUCCESS
COLGALT2	23127	.	GRCh37	1	183909842	183909842	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	256	57	196	1	ENST00000361927.4:c.1477T>A	p.Tyr493Asn	p.Y493N	ENST00000361927	NM_015101.2	493	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS1360.1	1477	RADIA|MUTECT|MUSE|VARSCANS	.	GGAATAGTCGG	NONE	.	.	Pfam_domain:PF01755,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8	.	.	ENSP00000354960	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,missense_variant,p.Tyr230Asn,ENST00000367520,;COLGALT2,missense_variant,p.Tyr493Asn,ENST00000361927,;COLGALT2,missense_variant,p.Tyr101Asn,ENST00000367521,;COLGALT2,missense_variant,p.Tyr493Asn,ENST00000546159,;COLGALT2,non_coding_transcript_exon_variant,,ENST00000486375,;	1849	197	314	SUCCESS
PIK3C2B	5287	.	GRCh37	1	204429747	204429747	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	8	57	0	ENST00000367187.3:c.1353C>G	p.Arg451=	p.R451=	ENST00000367187	NM_002646.3	451	cgC/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS1446.1	1353	MUTECT|MUSE	.	AACTTGCGGCA	NONE	.	.	PROSITE_profiles:PS51546,hmmpanther:PTHR10048:SF30,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Pfam_domain:PF00794,SMART_domains:SM00144,Superfamily_domains:SSF54236	.	.	ENSP00000356155	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000367187	Transcript	.	.	ENSG00000133056	8972	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P3C2B_HUMAN	PIK3C2B	HGNC	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN	.	UPI00002056D1	SNV	PIK3C2B,synonymous_variant,p.%3D,ENST00000367187,;PIK3C2B,synonymous_variant,p.%3D,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000367184,;PIK3C2B,upstream_gene_variant,,ENST00000496872,;	1910	57	129	SUCCESS
ENAH	55740	.	GRCh37	1	225707015	225707018	+	frameshift_variant	Frame_Shift_Del	DEL	TCTT	TCTT	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	TCTT	TCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	40	0	ENST00000366844.3:c.684_687del	p.Glu228AspfsTer23	p.E228Dfs*23	ENST00000366844	NM_001008493.1	228	gaAAGA/ga	0	.	.	.	.	.	-	ER/X	protein_coding	YES	CCDS31041.1	684-687	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTTGTCTTTCTTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11202:SF1,hmmpanther:PTHR11202	.	.	ENSP00000355809	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000366844	Transcript	.	.	ENSG00000154380	18271	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ENAH_HUMAN	ENAH	HGNC	.	.	UPI0000203FDB	deletion	ENAH,frameshift_variant,p.Glu228AspfsTer23,ENST00000366843,;ENAH,frameshift_variant,p.Glu228AspfsTer23,ENST00000366844,;ENAH,frameshift_variant,p.Glu247AspfsTer23,ENST00000284563,;ENAH,non_coding_transcript_exon_variant,,ENST00000391874,;ENAH,non_coding_transcript_exon_variant,,ENST00000497899,;ENAH,upstream_gene_variant,,ENST00000358675,;	1136-1139	40	60	SUCCESS
KIF26B	55083	.	GRCh37	1	245849630	245849630	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	64	0	ENST00000407071.2:c.3345T>C	p.Ser1115=	p.S1115=	ENST00000407071	NM_018012.3	1115	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS44342.1	3345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTCTAGGGA	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	3785	64	95	SUCCESS
OR2T1	26696	.	GRCh37	1	248569656	248569656	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	59	0	ENST00000366474.1:c.361A>G	p.Met121Val	p.M121V	ENST00000366474	NM_030904.1	121	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS31115.1	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACATGATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF125,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355430	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366474	Transcript	.	.	ENSG00000175143	8277	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.29)	.	OR2T1_HUMAN	OR2T1	HGNC	.	.	UPI00003B2872	SNV	OR2T1,missense_variant,p.Met121Val,ENST00000366474,;	361	59	80	SUCCESS
OR2T27	403239	.	GRCh37	1	248813969	248813969	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	17	62	0	ENST00000344889.3:c.217T>C	p.Tyr73His	p.Y73H	ENST00000344889	NM_001001824.1	73	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS31124.1	217	RADIA|MUSE|VARSCANS	.	AATATACAGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000342008	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344889	Transcript	.	.	ENSG00000187701	31252	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.078)	.	deleterious(0.01)	.	O2T27_HUMAN	OR2T27	HGNC	.	.	UPI000004F239	SNV	OR2T27,missense_variant,p.Tyr73His,ENST00000344889,;	217	62	99	SUCCESS
TPRG1L	127262	.	GRCh37	1	3542442	3542442	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	14	0	ENST00000378344.2:c.459A>G	p.Lys153=	p.K153=	ENST00000378344	NM_182752.3	153	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAAATCGCT	NONE	.	.	hmmpanther:PTHR31108:SF3,hmmpanther:PTHR31108,Pfam_domain:PF12456	.	.	ENSP00000367595	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000378344	Transcript	.	.	ENSG00000158109	27007	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPRGL_HUMAN	TPRG1L	HGNC	.	.	UPI000014067B	SNV	TPRG1L,synonymous_variant,p.%3D,ENST00000378344,;TPRG1L,intron_variant,,ENST00000344579,;WRAP73,downstream_gene_variant,,ENST00000270708,;WRAP73,downstream_gene_variant,,ENST00000378322,;RP11-46F15.2,upstream_gene_variant,,ENST00000435049,;	530	14	23	SUCCESS
LRRC47	57470	.	GRCh37	1	3712543	3712543	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	17	0	ENST00000378251.1:c.498C>G	p.Asp166Glu	p.D166E	ENST00000378251	NM_020710.2	166	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS51.1	498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGTCTAG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR10947:SF2,hmmpanther:PTHR10947,Gene3D:3.80.10.10,Pfam_domain:PF12799,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058	.	.	ENSP00000367498	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000378251	Transcript	.	.	ENSG00000130764	29207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.86)	.	LRC47_HUMAN	LRRC47	HGNC	.	.	UPI000006DEDC	SNV	LRRC47,missense_variant,p.Asp166Glu,ENST00000378251,;	526	17	18	SUCCESS
CEP104	9731	.	GRCh37	1	3740103	3740103	+	synonymous_variant	Silent	SNP	C	C	G	rs374760299	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	53	0	ENST00000378230.3:c.2388G>C	p.Thr796=	p.T796=	ENST00000378230	NM_014704.3	796	acG/acC	0	T:0	.	.	.	.	G	T	protein_coding	YES	CCDS30571.1	2388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCCGTCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371	.	T:0.0001	ENSP00000367476	.	19/22	.	.	.	.	.	.	.	.	rs374760299	19/22	PASS	ENST00000378230	Transcript	.	.	ENSG00000116198	24866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE104_HUMAN	CEP104	HGNC	.	.	UPI0000139AA8	SNV	CEP104,synonymous_variant,p.%3D,ENST00000438539,;CEP104,synonymous_variant,p.%3D,ENST00000461667,;CEP104,synonymous_variant,p.%3D,ENST00000378230,;	2713	53	54	SUCCESS
DFFB	1677	.	GRCh37	1	3775376	3775376	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	39	0	ENST00000378209.3:c.209T>G	p.Val70Gly	p.V70G	ENST00000378209	NM_004402.2	70	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS52.1	209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTGCTGC	NONE	.	.	Superfamily_domains:SSF54277,SMART_domains:SM00266,Gene3D:3.10.20.10,Pfam_domain:PF02017,hmmpanther:PTHR13067,PROSITE_profiles:PS51135	.	.	ENSP00000367454	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000378209	Transcript	.	.	ENSG00000169598	2773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	DFFB_HUMAN	DFFB	HGNC	Q96P72_HUMAN	.	UPI000006230F	SNV	DFFB,missense_variant,p.Val70Gly,ENST00000378212,;DFFB,missense_variant,p.Val70Gly,ENST00000338895,;DFFB,missense_variant,p.Val70Gly,ENST00000378209,;DFFB,missense_variant,p.Val70Gly,ENST00000341385,;CEP104,upstream_gene_variant,,ENST00000428079,;CEP104,upstream_gene_variant,,ENST00000378230,;CEP104,upstream_gene_variant,,ENST00000378223,;DFFB,missense_variant,p.Val70Gly,ENST00000477548,;DFFB,missense_variant,p.Val70Gly,ENST00000475969,;DFFB,missense_variant,p.Val70Gly,ENST00000378206,;DFFB,missense_variant,p.Val70Gly,ENST00000491998,;DFFB,missense_variant,p.Val70Gly,ENST00000468793,;DFFB,missense_variant,p.Val70Gly,ENST00000339350,;CEP104,upstream_gene_variant,,ENST00000494653,;	532	39	49	SUCCESS
IPO13	9670	.	GRCh37	1	44422488	44422488	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	29	0	ENST00000372343.3:c.1111A>T	p.Ile371Phe	p.I371F	ENST00000372343	NM_014652.3	371	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS503.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATATTCTA	NONE	.	.	hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF29,Superfamily_domains:SSF48371	.	.	ENSP00000361418	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000372343	Transcript	.	.	ENSG00000117408	16853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.514)	.	deleterious(0.01)	.	IPO13_HUMAN	IPO13	HGNC	.	.	UPI0000073F11	SNV	IPO13,missense_variant,p.Ile371Phe,ENST00000372343,;IPO13,non_coding_transcript_exon_variant,,ENST00000492152,;IPO13,non_coding_transcript_exon_variant,,ENST00000489773,;IPO13,upstream_gene_variant,,ENST00000480902,;	1773	29	37	SUCCESS
EFCAB14	9813	.	GRCh37	1	47144177	47144177	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1294733356	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	39	0	ENST00000371933.3:c.1444G>A	p.Gly482Arg	p.G482R	ENST00000371933	NM_014774.2	482	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS30706.1	1444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCATCTC	BUFFER|p.S478S|c.1434C>T|3	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR15717,hmmpanther:PTHR15717:SF2,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000361001	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000371933	Transcript	.	.	ENSG00000159658	29051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	EFC14_HUMAN	EFCAB14	HGNC	.	.	UPI000003B443	SNV	EFCAB14,missense_variant,p.Gly482Arg,ENST00000371933,;EFCAB14,intron_variant,,ENST00000544071,;TEX38,downstream_gene_variant,,ENST00000569393,;TEX38,downstream_gene_variant,,ENST00000334122,;EFCAB14-AS1,intron_variant,,ENST00000442839,;EFCAB14-AS1,intron_variant,,ENST00000418985,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000479745,;ATPAF1,upstream_gene_variant,,ENST00000525633,;EFCAB14,downstream_gene_variant,,ENST00000459797,;EFCAB14,3_prime_UTR_variant,,ENST00000487741,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000481623,;	2421	39	55	SUCCESS
ZYG11A	440590	.	GRCh37	1	53352689	53352689	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	54	0	ENST00000371528.1:c.2068G>A	p.Ala690Thr	p.A690T	ENST00000371528	NM_001004339.2	690	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS44148.1	2068	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGCACTA	NONE	.	.	hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF20,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000360583	.	13/14	.	.	.	.	.	.	.	.	COSM910724	13/14	PASS	ENST00000371528	Transcript	.	.	ENSG00000203995	32058	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.976)	.	deleterious(0)	1	ZY11A_HUMAN	ZYG11A	HGNC	.	.	UPI000066D8BB	SNV	ZYG11A,missense_variant,p.Ala690Thr,ENST00000371528,;ZYG11A,missense_variant,p.Ala348Thr,ENST00000371532,;	2216	54	79	SUCCESS
CTH	1491	.	GRCh37	1	70881649	70881649	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	52	0	ENST00000370938.3:c.179A>G	p.Tyr60Cys	p.Y60C	ENST00000370938	NM_001902.5	60	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS650.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATATAGCC	NONE	.	.	Superfamily_domains:SSF53383,PIRSF_domain:PIRSF001434,Pfam_domain:PF01053,Gene3D:3.40.640.10,hmmpanther:PTHR11808:SF15,hmmpanther:PTHR11808	.	.	ENSP00000359976	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000370938	Transcript	.	.	ENSG00000116761	2501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CGL_HUMAN	CTH	HGNC	.	.	UPI00001275DE	SNV	CTH,missense_variant,p.Tyr60Cys,ENST00000346806,;CTH,missense_variant,p.Tyr60Cys,ENST00000411986,;CTH,missense_variant,p.Tyr60Cys,ENST00000370938,;CTH,non_coding_transcript_exon_variant,,ENST00000464926,;	323	52	57	SUCCESS
FPGT	8790	.	GRCh37	1	74671023	74671023	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	25	120	0	ENST00000609362.1:c.1292G>A	p.Gly431Glu	p.G431E	ENST00000609362		431	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	.	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGGGAAA	NONE	.	.	hmmpanther:PTHR15045,Pfam_domain:PF07959,Gene3D:3.90.550.10,PIRSF_domain:PIRSF036640,Superfamily_domains:SSF51161	.	.	ENSP00000476680	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000609362	Transcript	.	.	ENSG00000254685	3825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0)	.	.	FPGT	HGNC	.	.	UPI000013D402	SNV	FPGT,missense_variant,p.Gly444Glu,ENST00000370898,;FPGT,missense_variant,p.Gly177Glu,ENST00000534056,;FPGT,missense_variant,p.Gly431Glu,ENST00000609362,;FPGT,missense_variant,p.Gly159Arg,ENST00000370894,;FPGT-TNNI3K,intron_variant,,ENST00000370895,;FPGT-TNNI3K,intron_variant,,ENST00000370893,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT-TNNI3K,intron_variant,,ENST00000370899,;TNNI3K,intron_variant,,ENST00000370891,;FPGT-TNNI3K,intron_variant,,ENST00000557284,;FPGT,downstream_gene_variant,,ENST00000482102,;FPGT,downstream_gene_variant,,ENST00000467578,;FPGT,downstream_gene_variant,,ENST00000472069,;FPGT,intron_variant,,ENST00000524915,;FPGT-TNNI3K,intron_variant,,ENST00000533006,;FPGT,downstream_gene_variant,,ENST00000529485,;	1329	121	129	SUCCESS
SLC2A5	6518	.	GRCh37	1	9117613	9117613	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	67	0	ENST00000377424.4:c.187G>T	p.Glu63Ter	p.E63*	ENST00000377424	NM_003039.2	63	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS99.1	187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCCATGA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF309,hmmpanther:PTHR24063,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000366641	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000377424	Transcript	.	.	ENSG00000142583	11010	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR5_HUMAN	SLC2A5	HGNC	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN	.	UPI00000532AC	SNV	SLC2A5,stop_gained,p.Glu63Ter,ENST00000487835,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000484798,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000377414,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000377424,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000473209,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000464985,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000479813,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000474145,;SLC2A5,stop_gained,p.Glu63Ter,ENST00000486632,;SLC2A5,intron_variant,,ENST00000535586,;	367	67	70	SUCCESS
SLC2A5	6518	.	GRCh37	1	9117614	9117614	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	67	0	ENST00000377424.4:c.186G>T	p.Met62Ile	p.M62I	ENST00000377424	NM_003039.2	62	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS99.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCATGAA	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF309,hmmpanther:PTHR24063,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000366641	.	3/12	.	.	.	.	.	.	.	.	COSM3493280,COSM3493281	3/12	PASS	ENST00000377424	Transcript	.	.	ENSG00000142583	11010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.006)	.	tolerated(0.54)	1,1	GTR5_HUMAN	SLC2A5	HGNC	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN	.	UPI00000532AC	SNV	SLC2A5,missense_variant,p.Met62Ile,ENST00000487835,;SLC2A5,missense_variant,p.Met62Ile,ENST00000484798,;SLC2A5,missense_variant,p.Met62Ile,ENST00000377414,;SLC2A5,missense_variant,p.Met62Ile,ENST00000377424,;SLC2A5,missense_variant,p.Met62Ile,ENST00000473209,;SLC2A5,missense_variant,p.Met62Ile,ENST00000464985,;SLC2A5,missense_variant,p.Met62Ile,ENST00000479813,;SLC2A5,missense_variant,p.Met62Ile,ENST00000474145,;SLC2A5,missense_variant,p.Met62Ile,ENST00000486632,;SLC2A5,intron_variant,,ENST00000535586,;	366	67	70	SUCCESS
ZNF337	26152	.	GRCh37	20	25656381	25656381	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778377803	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	28	67	0	ENST00000252979.5:c.1543C>A	p.Arg515Ser	p.R515S	ENST00000252979	NM_015655.2	515	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS13174.1	1543	RADIA|MUTECT|MUSE	.	AAAACGTTTCT	NONE	byFrequency	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24381:SF22,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000365619	.	4/4	.	.	.	.	.	.	.	.	rs778377803	4/4	PASS	ENST00000376436	Transcript	.	.	ENSG00000130684	15809	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.683)	.	tolerated(0.09)	.	ZN337_HUMAN	ZNF337	HGNC	B3KPK8_HUMAN	.	UPI000013C35E	SNV	ZNF337,missense_variant,p.Arg515Ser,ENST00000252979,;ZNF337,missense_variant,p.Arg483Ser,ENST00000538750,;ZNF337,missense_variant,p.Arg515Ser,ENST00000376436,;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337,downstream_gene_variant,,ENST00000481610,;	2083	67	94	SUCCESS
ZNF337	26152	.	GRCh37	20	25656385	25656385	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs190880125	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	28	67	0	ENST00000252979.5:c.1539G>C	p.Glu513Asp	p.E513D	ENST00000252979	NM_015655.2	513	gaG/gaC	0	.	T:0	.	T:0.0029	.	G	E/D	protein_coding	YES	CCDS13174.1	1539	RADIA|MUTECT|MUSE	.	CGTTTCTCACC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24381:SF22,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	T:0	.	ENSP00000365619	T:0	4/4	.	.	.	.	.	.	.	.	rs190880125	4/4	PASS	ENST00000376436	Transcript	.	T:0.0004	ENSG00000130684	15809	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.093)	T:0	deleterious(0.02)	.	ZN337_HUMAN	ZNF337	HGNC	B3KPK8_HUMAN	.	UPI000013C35E	SNV	ZNF337,missense_variant,p.Glu513Asp,ENST00000252979,;ZNF337,missense_variant,p.Glu481Asp,ENST00000538750,;ZNF337,missense_variant,p.Glu513Asp,ENST00000376436,;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337,downstream_gene_variant,,ENST00000481610,;	2079	67	92	SUCCESS
RALGAPB	57148	.	GRCh37	20	37191272	37191272	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	173	28	113	0	ENST00000262879.6:c.3629G>A	p.Gly1210Asp	p.G1210D	ENST00000262879		1210	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS13305.1	3629	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGTTGGA	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR21344,Superfamily_domains:0043732	.	.	ENSP00000262879	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000262879	Transcript	.	.	ENSG00000170471	29221	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RLGPB_HUMAN	RALGAPB	HGNC	Q6MZJ2_HUMAN	.	UPI000000DBFD	SNV	RALGAPB,missense_variant,p.Gly988Asp,ENST00000397038,;RALGAPB,missense_variant,p.Gly1210Asp,ENST00000397040,;RALGAPB,missense_variant,p.Gly1206Asp,ENST00000397042,;RALGAPB,missense_variant,p.Gly1210Asp,ENST00000262879,;RALGAPB,missense_variant,p.Gly1038Asp,ENST00000438490,;	3913	113	201	SUCCESS
MMP9	4318	.	GRCh37	20	44642129	44642129	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779945082	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	7	56	0	ENST00000372330.3:c.1566C>A	p.Asp522Glu	p.D522E	ENST00000372330	NM_004994.2	522	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS13390.1	1566	MUTECT|MUSE	.	TTCGACGCCAT	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF30,hmmpanther:PTHR10201,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923	.	.	ENSP00000361405	.	9/13	.	.	.	.	.	.	.	.	rs779945082	9/13	PASS	ENST00000372330	Transcript	1	.	ENSG00000100985	7176	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	MMP9_HUMAN	MMP9	HGNC	.	.	UPI000013C712	SNV	MMP9,missense_variant,p.Asp522Glu,ENST00000372330,;RP11-465L10.10,downstream_gene_variant,,ENST00000535913,;AL162458.1,upstream_gene_variant,,ENST00000366171,;	1585	56	108	SUCCESS
FAM65C	0	.	GRCh37	20	49221275	49221275	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	30	0	ENST00000327979.2:c.981C>G	p.Ser327Arg	p.S327R	ENST00000327979		327	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS13431.2	981	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGGCTGGG	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	tolerated(0.06)	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Ser327Arg,ENST00000327979,;FAM65C,missense_variant,p.Ser331Arg,ENST00000535356,;FAM65C,missense_variant,p.Ser327Arg,ENST00000045083,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	1393	30	79	SUCCESS
ZNF831	128611	.	GRCh37	20	57766370	57766370	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	25	0	ENST00000371030.2:c.296G>T	p.Gly99Val	p.G99V	ENST00000371030	NM_178457.2	99	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS42894.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGGGCCTG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Gly99Val,ENST00000371030,;	296	25	50	SUCCESS
OSBPL2	9885	.	GRCh37	20	60835074	60835074	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	8	39	0	ENST00000313733.3:c.75G>A	p.Glu25=	p.E25=	ENST00000313733	NM_144498.2	25	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS13495.1	75	MUTECT|MUSE|VARSCANS	.	TCAGAGGCAAA	NONE	.	.	hmmpanther:PTHR10972:SF54,hmmpanther:PTHR10972	.	.	ENSP00000316649	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000313733	Transcript	1	.	ENSG00000130703	15761	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OSBL2_HUMAN	OSBPL2	HGNC	H0Y7X4_HUMAN	.	UPI0000130E96	SNV	OSBPL2,synonymous_variant,p.%3D,ENST00000358053,;OSBPL2,synonymous_variant,p.%3D,ENST00000313733,;OSBPL2,intron_variant,,ENST00000439951,;	277	39	94	SUCCESS
SLCO4A1	28231	.	GRCh37	20	61287812	61287812	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	14	0	ENST00000217159.1:c.6C>G	p.Pro2=	p.P2=	ENST00000217159	NM_016354.3	2	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS13501.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCCTGCA	NONE	.	.	.	.	.	ENSP00000217159	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000217159	Transcript	.	.	ENSG00000101187	10953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO4A1_HUMAN	SLCO4A1	HGNC	.	.	UPI00000557C6	SNV	SLCO4A1,synonymous_variant,p.%3D,ENST00000217159,;SLCO4A1,synonymous_variant,p.%3D,ENST00000370507,;SLCO4A1,synonymous_variant,p.%3D,ENST00000497209,;	211	14	17	SUCCESS
PLCB4	5332	.	GRCh37	20	9319611	9319611	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	25	54	0	ENST00000278655.4:c.296G>C	p.Cys99Ser	p.C99S	ENST00000278655	NM_182797.2	99	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS13104.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTGTGTCT	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:2.30.29.30,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729	.	.	ENSP00000367762	.	4/36	.	.	.	.	.	.	.	.	COSM1632414	4/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.341)	.	tolerated(0.32)	1	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,missense_variant,p.Cys99Ser,ENST00000334005,;PLCB4,missense_variant,p.Cys99Ser,ENST00000414679,;PLCB4,missense_variant,p.Cys99Ser,ENST00000407043,;PLCB4,missense_variant,p.Cys99Ser,ENST00000278655,;PLCB4,missense_variant,p.Cys99Ser,ENST00000378473,;PLCB4,missense_variant,p.Cys99Ser,ENST00000378493,;PLCB4,missense_variant,p.Cys99Ser,ENST00000441846,;PLCB4,missense_variant,p.Cys99Ser,ENST00000378501,;PLCB4,downstream_gene_variant,,ENST00000416836,;PLCB4,downstream_gene_variant,,ENST00000437503,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;	311	54	81	SUCCESS
C21orf59	0	.	GRCh37	21	33975557	33975557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	69	0	ENST00000290155.3:c.580G>T	p.Ala194Ser	p.A194S	ENST00000290155	NM_021254.2	194	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	.	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCCACC	NONE	.	.	hmmpanther:PTHR13238,Pfam_domain:PF11069	.	.	ENSP00000446874	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000553001	Transcript	.	.	ENSG00000265590	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.264)	.	tolerated(0.14)	.	.	AP000275.65	Clone_based_vega_gene	F8VZ95_HUMAN	.	UPI0000E5A3A4	SNV	AP000275.65,missense_variant,p.Ala194Ser,ENST00000553001,;AP000275.65,missense_variant,p.Ala162Ser,ENST00000431216,;C21orf59,missense_variant,p.Ala194Ser,ENST00000290155,;C21orf59,missense_variant,p.Ala194Ser,ENST00000440966,;C21orf59,missense_variant,p.Ala42Ser,ENST00000425336,;C21orf59,missense_variant,p.Ala138Ser,ENST00000540881,;C21orf59,missense_variant,p.Ala194Ser,ENST00000382549,;C21orf59,missense_variant,p.Ala177Ser,ENST00000458138,;C21orf59,upstream_gene_variant,,ENST00000431599,;C21orf59,3_prime_UTR_variant,,ENST00000300260,;C21orf59,non_coding_transcript_exon_variant,,ENST00000483315,;	618	69	97	SUCCESS
SMIM11	0	.	GRCh37	21	35751741	35751741	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	53	0	ENST00000399292.3:c.-63C>G		p.*21*	ENST00000399292	NM_058182.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33550.1	.	MUTECT|MUSE	.	TCCAGCTGCCT	NONE	.	.	.	.	.	ENSP00000382234	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000399295	Transcript	.	.	ENSG00000205670	1293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIM11_HUMAN	SMIM11	HGNC	.	.	UPI00001286A7	SNV	SMIM11,5_prime_UTR_variant,,ENST00000399299,;SMIM11,5_prime_UTR_variant,,ENST00000399292,;SMIM11,5_prime_UTR_variant,,ENST00000399295,;AP000320.6,upstream_gene_variant,,ENST00000440403,;SMIM11,non_coding_transcript_exon_variant,,ENST00000495363,;SMIM11,non_coding_transcript_exon_variant,,ENST00000481710,;SMIM11,non_coding_transcript_exon_variant,,ENST00000489469,;SMIM11,non_coding_transcript_exon_variant,,ENST00000474455,;	308	53	78	SUCCESS
PRDM15	63977	.	GRCh37	21	43248679	43248679	+	synonymous_variant	Silent	SNP	C	C	A	rs751121939	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	37	0	ENST00000269844.3:c.2475G>T	p.Thr825=	p.T825=	ENST00000269844	NM_022115.3	825	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13676.1	2475	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACGTCTT	NONE	.	.	hmmpanther:PTHR24387:SF6,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000269844	.	19/31	.	.	.	.	.	.	.	.	rs751121939	19/31	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,synonymous_variant,p.%3D,ENST00000269844,;PRDM15,synonymous_variant,p.%3D,ENST00000422911,;PRDM15,synonymous_variant,p.%3D,ENST00000398548,;PRDM15,synonymous_variant,p.%3D,ENST00000447207,;PRDM15,synonymous_variant,p.%3D,ENST00000538201,;PRDM15,non_coding_transcript_exon_variant,,ENST00000491486,;PRDM15,non_coding_transcript_exon_variant,,ENST00000496124,;PRDM15,synonymous_variant,p.%3D,ENST00000433067,;PRDM15,synonymous_variant,p.%3D,ENST00000447016,;PRDM15,non_coding_transcript_exon_variant,,ENST00000489661,;PRDM15,intron_variant,,ENST00000449395,;PRDM15,intron_variant,,ENST00000441787,;	2586	37	51	SUCCESS
ADARB1	104	.	GRCh37	21	46604970	46604970	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1409743479	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	38	0	ENST00000360697.3:c.1649G>A	p.Arg550Gln	p.R550Q	ENST00000360697		550	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS33589.1	1649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGGCTGC	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF58,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000441897	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000539173	Transcript	.	.	ENSG00000197381	226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.127)	.	tolerated(0.49)	.	RED1_HUMAN	ADARB1	HGNC	C9JUP4_HUMAN	.	UPI0000133622	SNV	ADARB1,missense_variant,p.Arg550Gln,ENST00000539173,;ADARB1,missense_variant,p.Arg550Gln,ENST00000360697,;ADARB1,missense_variant,p.Arg510Gln,ENST00000348831,;ADARB1,missense_variant,p.Arg550Gln,ENST00000389863,;ADARB1,3_prime_UTR_variant,,ENST00000437626,;ADARB1,missense_variant,p.Arg550Gln,ENST00000496664,;ADARB1,missense_variant,p.Arg510Gln,ENST00000492414,;ADARB1,missense_variant,p.Arg538Gln,ENST00000389861,;	2084	38	58	SUCCESS
COL6A1	1291	.	GRCh37	21	47423312	47423312	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	8	0	ENST00000361866.3:c.2472C>G	p.Phe824Leu	p.F824L	ENST00000361866	NM_001848.2	824	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS13727.1	2472	MUTECT|MUSE|VARSCANS	.	ACGTTCTCCTC	NONE	.	.	Superfamily_domains:SSF53300,Gene3D:3.40.50.410	.	.	ENSP00000355180	.	35/35	.	.	.	.	.	.	.	.	COSM1236405	35/35	PASS	ENST00000361866	Transcript	.	.	ENSG00000142156	2211	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.351)	.	deleterious(0.02)	1	CO6A1_HUMAN	COL6A1	HGNC	Q05BT9_HUMAN	.	UPI000019B179	SNV	COL6A1,missense_variant,p.Phe824Leu,ENST00000361866,;COL6A1,non_coding_transcript_exon_variant,,ENST00000486023,;COL6A1,non_coding_transcript_exon_variant,,ENST00000498614,;COL6A1,downstream_gene_variant,,ENST00000463060,;COL6A1,downstream_gene_variant,,ENST00000466285,;	2586	8	18	SUCCESS
DGCR14	0	.	GRCh37	22	19132075	19132075	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	45	0	ENST00000252137.6:c.79G>A	p.Glu27Lys	p.E27K	ENST00000252137	NM_022719.2	27	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13756.1	79	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCTCCCG	NONE	.	.	hmmpanther:PTHR12940	.	.	ENSP00000252137	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000252137	Transcript	.	.	ENSG00000100056	16817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.38)	.	DGC14_HUMAN	DGCR14	HGNC	.	.	UPI0000129227	SNV	DGCR14,missense_variant,p.Glu27Lys,ENST00000252137,;GSC2,downstream_gene_variant,,ENST00000086933,;DGCR14,missense_variant,p.Glu27Lys,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;DGCR14,non_coding_transcript_exon_variant,,ENST00000469466,;	123	45	62	SUCCESS
SCUBE1	80274	.	GRCh37	22	43608519	43608519	+	synonymous_variant	Silent	SNP	C	C	T	rs1371537181	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	49	0	ENST00000360835.4:c.2133G>A	p.Glu711=	p.E711=	ENST00000360835	NM_173050.3	711	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS14048.1	2133	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCTCAGG	NONE	.	.	hmmpanther:PTHR24046:SF4,hmmpanther:PTHR24046,Pfam_domain:PF07699,Superfamily_domains:SSF57184	.	.	ENSP00000354080	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000360835	Transcript	.	.	ENSG00000159307	13441	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCUB1_HUMAN	SCUBE1	HGNC	.	.	UPI000020790F	SNV	SCUBE1,synonymous_variant,p.%3D,ENST00000360835,;Z82214.3,upstream_gene_variant,,ENST00000420269,;	2260	49	58	SUCCESS
PLXNB2	23654	.	GRCh37	22	50721222	50721234	+	frameshift_variant	Frame_Shift_Del	DEL	GGGACCCCCCGTA	GGGACCCCCCGTA	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	GGGACCCCCCGTA	GGGACCCCCCGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	36	0	ENST00000359337.4:c.2893_2905del	p.Tyr965ProfsTer42	p.Y965Pfs*42	ENST00000359337	NM_012401.3	965	TACGGGGGGTCCCcc/cc	0	.	.	.	.	.	-	YGGSP/X	protein_coding	YES	CCDS43035.1	2893-2905	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACGGGGGACCCCCCGTAGGAGA	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000409171	.	18/37	.	.	.	.	.	.	.	.	.	18/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	deletion	PLXNB2,frameshift_variant,p.Tyr965ProfsTer42,ENST00000359337,;PLXNB2,frameshift_variant,p.Leu26ProfsTer61,ENST00000427829,;PLXNB2,frameshift_variant,p.Tyr965ProfsTer42,ENST00000449103,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,upstream_gene_variant,,ENST00000479818,;PLXNB2,upstream_gene_variant,,ENST00000479701,;PLXNB2,upstream_gene_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000492578,;	3034-3046	36	23	SUCCESS
NCAPH2	29781	.	GRCh37	22	50961497	50961497	+	synonymous_variant	Silent	SNP	C	C	A	rs779704396	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	27	0	ENST00000420993.2:c.1579C>A	p.Arg527=	p.R527=	ENST00000420993	NM_001185011.1	527	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54546.1	1582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCACGGTTC	NONE	.	.	hmmpanther:PTHR14324:SF3,hmmpanther:PTHR14324,Pfam_domain:PF06278	.	.	ENSP00000299821	.	19/20	.	.	.	.	.	.	.	.	rs779704396	19/20	PASS	ENST00000299821	Transcript	.	.	ENSG00000025770	25071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNDH2_HUMAN	NCAPH2	HGNC	.	.	UPI0000207A65	SNV	NCAPH2,synonymous_variant,p.%3D,ENST00000395701,;NCAPH2,synonymous_variant,p.%3D,ENST00000420993,;NCAPH2,synonymous_variant,p.%3D,ENST00000299821,;NCAPH2,intron_variant,,ENST00000522304,;NCAPH2,downstream_gene_variant,,ENST00000523045,;SCO2,downstream_gene_variant,,ENST00000395693,;TYMP,downstream_gene_variant,,ENST00000425169,;NCAPH2,downstream_gene_variant,,ENST00000395698,;TYMP,downstream_gene_variant,,ENST00000252029,;TYMP,downstream_gene_variant,,ENST00000395678,;TYMP,downstream_gene_variant,,ENST00000395681,;SCO2,downstream_gene_variant,,ENST00000252785,;SCO2,downstream_gene_variant,,ENST00000423348,;SCO2,downstream_gene_variant,,ENST00000543927,;TYMP,downstream_gene_variant,,ENST00000395680,;SCO2,downstream_gene_variant,,ENST00000535425,;SCO2,downstream_gene_variant,,ENST00000439934,;CTA-384D8.36,upstream_gene_variant,,ENST00000608319,;NCAPH2,downstream_gene_variant,,ENST00000520297,;TYMP,downstream_gene_variant,,ENST00000487577,;TYMP,downstream_gene_variant,,ENST00000487162,;TYMP,downstream_gene_variant,,ENST00000476284,;NCAPH2,downstream_gene_variant,,ENST00000522048,;NCAPH2,downstream_gene_variant,,ENST00000518394,;	1660	27	39	SUCCESS
MYO7B	4648	.	GRCh37	2	128380906	128380906	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	27	0	ENST00000409816.2:c.3697A>T	p.Ser1233Cys	p.S1233C	ENST00000409816		1233	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS46405.1	3697	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCAGCGAC	NONE	.	.	PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000415090	.	28/47	.	.	.	.	.	.	.	.	.	28/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	deleterious(0)	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,missense_variant,p.Ser86Cys,ENST00000409090,;MYO7B,missense_variant,p.Ser86Cys,ENST00000437387,;MYO7B,missense_variant,p.Ser1233Cys,ENST00000389524,;MYO7B,missense_variant,p.Ser1233Cys,ENST00000409816,;MYO7B,missense_variant,p.Ser1233Cys,ENST00000428314,;RP11-286H15.1,downstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;	3750	27	53	SUCCESS
ARHGAP15	55843	.	GRCh37	2	144194492	144194492	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	85	0	ENST00000295095.6:c.584C>T	p.Ser195Leu	p.S195L	ENST00000295095	NM_018460.3	195	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS2184.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTCAAGTT	NONE	.	.	hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF5,Superfamily_domains:SSF50729	.	.	ENSP00000295095	.	8/14	.	.	.	.	.	.	.	.	COSM3425252	8/14	PASS	ENST00000295095	Transcript	.	.	ENSG00000075884	21030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.27)	1	RHG15_HUMAN	ARHGAP15	HGNC	.	.	UPI0000035D98	SNV	ARHGAP15,missense_variant,p.Ser195Leu,ENST00000295095,;AC096558.1,intron_variant,,ENST00000549032,;AC096558.1,intron_variant,,ENST00000442794,;AC096558.1,intron_variant,,ENST00000550516,;RP11-570L15.2,intron_variant,,ENST00000546678,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000548242,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000469117,;ARHGAP15,downstream_gene_variant,,ENST00000460776,;ARHGAP15,downstream_gene_variant,,ENST00000474474,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000552641,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000548929,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000548800,;	751	85	126	SUCCESS
TPO	7173	.	GRCh37	2	1481040	1481040	+	synonymous_variant	Silent	SNP	G	G	T	rs781491056	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	25	0	ENST00000329066.4:c.1002G>T	p.Pro334=	p.P334=	ENST00000329066	NM_001206744.1	334	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1643.1	1002	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGGCCCT	NONE	byFrequency	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	8/17	.	.	.	.	.	.	.	.	rs781491056	8/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,synonymous_variant,p.%3D,ENST00000329066,;TPO,synonymous_variant,p.%3D,ENST00000337415,;TPO,synonymous_variant,p.%3D,ENST00000382201,;TPO,synonymous_variant,p.%3D,ENST00000346956,;TPO,synonymous_variant,p.%3D,ENST00000422464,;TPO,synonymous_variant,p.%3D,ENST00000345913,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000497517,;	1093	25	62	SUCCESS
RIF1	55183	.	GRCh37	2	152322315	152322315	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	74	106	0	ENST00000243326.5:c.6281C>T	p.Ser2094Phe	p.S2094F	ENST00000243326		2094	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2194.1	6281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATCTGAAG	NONE	.	.	hmmpanther:PTHR22928	.	.	ENSP00000243326	.	29/35	.	.	.	.	.	.	.	.	COSM3567547	29/35	PASS	ENST00000243326	Transcript	.	.	ENSG00000080345	23207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated_low_confidence(0.1)	1	RIF1_HUMAN	RIF1	HGNC	C9J1D6_HUMAN,B4DRJ4_HUMAN	.	UPI000023729F	SNV	RIF1,missense_variant,p.Ser2094Phe,ENST00000444746,;RIF1,missense_variant,p.Ser2094Phe,ENST00000453091,;RIF1,missense_variant,p.Ser2094Phe,ENST00000428287,;RIF1,missense_variant,p.Ser2094Phe,ENST00000243326,;RIF1,missense_variant,p.Ser2094Phe,ENST00000430328,;RIF1,missense_variant,p.Ser368Phe,ENST00000454583,;	6764	107	149	SUCCESS
GALNT3	2591	.	GRCh37	2	166627194	166627194	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs544219924	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	9	0	ENST00000392701.3:c.17G>T	p.Arg6Leu	p.R6L	ENST00000392701	NM_004482.3	6	cGa/cTa	0	.	T:0	.	T:0	.	A	R/L	protein_coding	YES	CCDS2226.1	17	MUTECT|MUSE	.	CTAGTCGCTTT	NONE	by1000G	.	hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675	T:0	.	ENSP00000376465	T:0	2/11	.	.	.	.	.	.	.	.	rs544219924	2/11	PASS	ENST00000392701	Transcript	.	T:0.0002	ENSG00000115339	4125	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	T:0.001	tolerated_low_confidence(0.18)	.	GALT3_HUMAN	GALNT3	HGNC	C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN	.	UPI000013C989	SNV	GALNT3,missense_variant,p.Arg6Leu,ENST00000412248,;GALNT3,missense_variant,p.Arg6Leu,ENST00000414977,;GALNT3,missense_variant,p.Arg6Leu,ENST00000431484,;GALNT3,missense_variant,p.Arg6Leu,ENST00000447156,;GALNT3,missense_variant,p.Arg6Leu,ENST00000422973,;GALNT3,missense_variant,p.Arg6Leu,ENST00000392701,;	793	9	23	SUCCESS
XIRP2	129446	.	GRCh37	2	168106334	168106334	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762791115	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	51	99	0	ENST00000409195.1:c.8432A>T	p.Asp2811Val	p.D2811V	ENST00000409195	NM_152381.5	2811	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS42769.1	8432	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGACAGAG	NONE	byFrequency	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	rs762791115	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Asp2589Val,ENST00000409273,;XIRP2,missense_variant,p.Asp2811Val,ENST00000409195,;XIRP2,missense_variant,p.Asp2811Val,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8521	99	124	SUCCESS
PDE11A	50940	.	GRCh37	2	178634089	178634089	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	35	0	ENST00000286063.6:c.1750C>T	p.His584Tyr	p.H584Y	ENST00000286063	NM_016953.3	584	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS33334.1	1750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATGGTATG	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF105,Superfamily_domains:SSF55781	.	.	ENSP00000286063	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000286063	Transcript	.	.	ENSG00000128655	8773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious(0)	.	PDE11_HUMAN	PDE11A	HGNC	Q53S13_HUMAN,Q53S07_HUMAN,F8WAE1_HUMAN	.	UPI00001402C1	SNV	PDE11A,missense_variant,p.His192Tyr,ENST00000433879,;PDE11A,missense_variant,p.His334Tyr,ENST00000358450,;PDE11A,missense_variant,p.His140Tyr,ENST00000389683,;PDE11A,missense_variant,p.His226Tyr,ENST00000449286,;PDE11A,missense_variant,p.His226Tyr,ENST00000409504,;PDE11A,missense_variant,p.His584Tyr,ENST00000286063,;PDE11A,non_coding_transcript_exon_variant,,ENST00000497003,;	2068	35	53	SUCCESS
ZC3H15	55854	.	GRCh37	2	187351141	187351141	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1440954631	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	12	74	0	ENST00000337859.6:c.32G>A	p.Gly11Asp	p.G11D	ENST00000337859	NM_018471.2	11	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS42791.1	32	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12681:SF3,hmmpanther:PTHR12681	.	.	ENSP00000338788	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000337859	Transcript	.	.	ENSG00000065548	29528	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.072)	.	tolerated(0.06)	.	ZC3HF_HUMAN	ZC3H15	HGNC	.	.	UPI00000437CE	SNV	ZC3H15,missense_variant,p.Gly11Asp,ENST00000337859,;ZC3H15,5_prime_UTR_variant,,ENST00000544130,;ZC3H15,non_coding_transcript_exon_variant,,ENST00000477672,;ZC3H15,upstream_gene_variant,,ENST00000496289,;ZC3H15,upstream_gene_variant,,ENST00000468120,;ZC3H15,upstream_gene_variant,,ENST00000481101,;ZC3H15,missense_variant,p.Gly11Asp,ENST00000421536,;ZC3H15,missense_variant,p.Gly11Asp,ENST00000437396,;DPRXP1,downstream_gene_variant,,ENST00000426312,;	259	74	105	SUCCESS
FAM171B	165215	.	GRCh37	2	187627500	187627500	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	95	172	0	ENST00000304698.5:c.2431A>G	p.Thr811Ala	p.T811A	ENST00000304698	NM_177454.3	811	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33347.1	2431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGACTAAC	NONE	.	.	Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2	.	.	ENSP00000304108	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000304698	Transcript	.	.	ENSG00000144369	29412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0.05)	.	F171B_HUMAN	FAM171B	HGNC	A8K122_HUMAN	.	UPI0000161631	SNV	FAM171B,missense_variant,p.Thr811Ala,ENST00000304698,;	2634	172	226	SUCCESS
AC010731.4	0	.	GRCh37	2	207509036	207509036	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	43	0	ENST00000543490.1:n.251T>G		p.*84*	ENST00000543490				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GAATGTGCTGT	NONE	.	.	.	.	.	.	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000543490	Transcript	.	.	ENSG00000235118	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC010731.4	Clone_based_vega_gene	.	.	.	SNV	AC010731.4,non_coding_transcript_exon_variant,,ENST00000441223,;AC010731.4,non_coding_transcript_exon_variant,,ENST00000543490,;AC010731.4,intron_variant,,ENST00000453816,;AC010731.3,downstream_gene_variant,,ENST00000415029,;	251	43	58	SUCCESS
FASTKD2	22868	.	GRCh37	2	207634821	207634821	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1447569233	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	67	0	ENST00000236980.6:c.784A>G	p.Ile262Val	p.I262V	ENST00000236980	NM_014929.3	262	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2371.1	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTATCAAT	NONE	.	.	hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228	.	.	ENSP00000236980	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000236980	Transcript	.	.	ENSG00000118246	29160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.338)	.	deleterious(0.05)	.	FAKD2_HUMAN	FASTKD2	HGNC	C9JPI6_HUMAN	.	UPI0000073E9F	SNV	FASTKD2,missense_variant,p.Ile262Val,ENST00000403094,;FASTKD2,missense_variant,p.Ile262Val,ENST00000236980,;FASTKD2,missense_variant,p.Ile262Val,ENST00000402774,;MDH1B,upstream_gene_variant,,ENST00000454776,;FASTKD2,downstream_gene_variant,,ENST00000418289,;MDH1B,upstream_gene_variant,,ENST00000392214,;MDH1B,upstream_gene_variant,,ENST00000374412,;MDH1B,upstream_gene_variant,,ENST00000449792,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;MDH1B,upstream_gene_variant,,ENST00000432911,;MDH1B,upstream_gene_variant,,ENST00000471988,;MDH1B,upstream_gene_variant,,ENST00000436472,;	1132	67	94	SUCCESS
CRYGD	1421	.	GRCh37	2	208986520	208986520	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs398122948	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	76	0	ENST00000264376.4:c.402C>A	p.Tyr134Ter	p.Y134*	ENST00000264376	NM_006891.3	134	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS2378.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AGCTCGTAGAG	NONE	byCluster	.	Superfamily_domains:SSF49695,SMART_domains:SM00247,Gene3D:2.60.20.10,Pfam_domain:PF00030,hmmpanther:PTHR11818:SF45,hmmpanther:PTHR11818,PROSITE_profiles:PS50915	.	.	ENSP00000264376	.	3/3	.	.	.	.	.	.	.	.	rs398122948,CM074129,COSM1015562	3/3	PASS	ENST00000264376	Transcript	.	.	ENSG00000118231	2411	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	0,0,1	CRGD_HUMAN	CRYGD	HGNC	.	.	UPI0000161BE3	SNV	CRYGD,stop_gained,p.Tyr134Ter,ENST00000264376,;	430	76	91	SUCCESS
SP140L	93349	.	GRCh37	2	231256927	231256927	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	46	86	0	ENST00000415673.2:c.1090C>A	p.Leu364Ile	p.L364I	ENST00000415673	NM_138402.4	364	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS46538.1	1090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCTACGA	NONE	.	.	PROSITE_profiles:PS50864,hmmpanther:PTHR13711:SF156,hmmpanther:PTHR13711,Gene3D:3.10.390.10,Pfam_domain:PF01342,SMART_domains:SM00258,Superfamily_domains:SSF63763	.	.	ENSP00000397911	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000415673	Transcript	.	.	ENSG00000185404	25105	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SP14L_HUMAN	SP140L	HGNC	.	.	UPI000020974D	SNV	SP140L,missense_variant,p.Leu364Ile,ENST00000444636,;SP140L,missense_variant,p.Leu364Ile,ENST00000415673,;SP140L,missense_variant,p.Leu329Ile,ENST00000396563,;SP140L,missense_variant,p.Leu364Ile,ENST00000243810,;SP140L,non_coding_transcript_exon_variant,,ENST00000483728,;SP140L,non_coding_transcript_exon_variant,,ENST00000496870,;SP140L,downstream_gene_variant,,ENST00000462156,;	1176	86	88	SUCCESS
SAG	6295	.	GRCh37	2	234217900	234217900	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371502229	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	35	65	0	ENST00000409110.1:c.65G>T	p.Arg22Leu	p.R22L	ENST00000409110	NM_000541.4	22	cGg/cTg	0	A:0	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS46545.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGGACA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11792:SF15,hmmpanther:PTHR11792,Gene3D:1g4mA01,Superfamily_domains:SSF81296	A:0	A:0.0002	ENSP00000386444	A:0.001	2/16	.	.	.	.	.	.	.	.	rs371502229,COSM1406347,COSM1406346	2/16	PASS	ENST00000409110	Transcript	.	A:0.0002	ENSG00000130561	10521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.793)	A:0	tolerated(0.1)	0,1,1	ARRS_HUMAN	SAG	HGNC	E7ESX4_HUMAN,A0FDN6_HUMAN	.	UPI000013CD8D	SNV	SAG,missense_variant,p.Arg22Leu,ENST00000447536,;SAG,missense_variant,p.Arg22Leu,ENST00000409110,;SAG,missense_variant,p.Arg22Leu,ENST00000415974,;SAG,intron_variant,,ENST00000462487,;SAG,intron_variant,,ENST00000479450,;SAG,missense_variant,p.Arg22Leu,ENST00000453143,;SAG,non_coding_transcript_exon_variant,,ENST00000412969,;SAG,non_coding_transcript_exon_variant,,ENST00000476500,;SAG,non_coding_transcript_exon_variant,,ENST00000471884,;	295	65	78	SUCCESS
SCLY	51540	.	GRCh37	2	239006994	239006994	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	rs1436291474	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000254663.6:c.1360T>C	p.Ter454GlnextTer26	p.*454Qext*26	ENST00000254663	NM_016510.5	454	Tag/Cag	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS2524.2	1360	MUTECT|MUSE	.	AGGCCTAGCAC	NONE	.	.	.	.	.	ENSP00000254663	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000254663	Transcript	.	.	ENSG00000132330	18161	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCLY_HUMAN	SCLY	HGNC	B4DDP9_HUMAN	.	UPI0000EE3842	SNV	SCLY,stop_lost,p.Ter352GlnextTer26,ENST00000422984,;SCLY,stop_lost,p.Ter240GlnextTer26,ENST00000429612,;SCLY,stop_lost,p.Ter446GlnextTer26,ENST00000555827,;SCLY,stop_lost,p.Ter454GlnextTer26,ENST00000254663,;SCLY,3_prime_UTR_variant,,ENST00000450965,;SCLY,intron_variant,,ENST00000437134,;ESPNL,upstream_gene_variant,,ENST00000343063,;SCLY,downstream_gene_variant,,ENST00000433750,;ESPNL,upstream_gene_variant,,ENST00000409169,;SCLY,downstream_gene_variant,,ENST00000412508,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,downstream_gene_variant,,ENST00000463433,;	1502	8	11	SUCCESS
CDKL4	344387	.	GRCh37	2	39414810	39414810	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs549348531	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	54	0	ENST00000395035.3:c.693C>A	p.Asn231Lys	p.N231K	ENST00000395035		231	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS33184.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCGTTACT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF120,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000368080	.	6/8	.	.	.	.	.	.	.	.	rs549348531	6/8	PASS	ENST00000378803	Transcript	.	.	ENSG00000205111	19287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CDKL4_HUMAN	CDKL4	HGNC	.	.	UPI00000398E1	SNV	CDKL4,missense_variant,p.Asn231Lys,ENST00000395035,;CDKL4,missense_variant,p.Asn231Lys,ENST00000378803,;CDKL4,missense_variant,p.Asn13Lys,ENST00000451199,;	693	54	71	SUCCESS
THADA	63892	.	GRCh37	2	43819108	43819108	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	58	95	0	ENST00000405006.4:c.154A>G	p.Ile52Val	p.I52V	ENST00000405006	NM_001083953.1	52	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS46268.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATTTGTG	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	.	.	ENSP00000385995	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.463)	.	deleterious(0.04)	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,missense_variant,p.Ile52Val,ENST00000404790,;THADA,missense_variant,p.Ile52Val,ENST00000402360,;THADA,missense_variant,p.Ile52Val,ENST00000403856,;THADA,missense_variant,p.Ile52Val,ENST00000405006,;THADA,missense_variant,p.Ile52Val,ENST00000405975,;THADA,5_prime_UTR_variant,,ENST00000415080,;THADA,missense_variant,p.Ile52Val,ENST00000408045,;THADA,missense_variant,p.Ile52Val,ENST00000398653,;THADA,missense_variant,p.Ile52Val,ENST00000474159,;	506	95	118	SUCCESS
CNRIP1	25927	.	GRCh37	2	68546450	68546450	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1214903582	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	23	0	ENST00000263655.3:c.83A>G	p.Asp28Gly	p.D28G	ENST00000263655	NM_015463.2	28	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1886.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGTCCACC	NONE	.	.	hmmpanther:PTHR31952:SF1,hmmpanther:PTHR31952,Pfam_domain:PF15043	.	.	ENSP00000263655	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000263655	Transcript	.	.	ENSG00000119865	24546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0)	.	CNRP1_HUMAN	CNRIP1	HGNC	.	.	UPI0000070FBE	SNV	CNRIP1,missense_variant,p.Asp28Gly,ENST00000409862,;CNRIP1,missense_variant,p.Asp28Gly,ENST00000409559,;CNRIP1,missense_variant,p.Asp28Gly,ENST00000263655,;CNRIP1,non_coding_transcript_exon_variant,,ENST00000481714,;	689	23	50	SUCCESS
PLEK	5341	.	GRCh37	2	68613639	68613639	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	46	0	ENST00000234313.7:c.478T>A	p.Cys160Ser	p.C160S	ENST00000234313	NM_002664.2	160	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS1887.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACTGCGTC	NONE	.	.	PROSITE_profiles:PS50186,hmmpanther:PTHR12092:SF1,hmmpanther:PTHR12092,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785	.	.	ENSP00000234313	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000234313	Transcript	.	.	ENSG00000115956	9070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	PLEK_HUMAN	PLEK	HGNC	.	.	UPI00002085C1	SNV	PLEK,missense_variant,p.Cys160Ser,ENST00000234313,;PLEK,upstream_gene_variant,,ENST00000474788,;	657	46	71	SUCCESS
IGKV3-7	28915	.	GRCh37	2	89278180	89278180	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs369120313	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	90	141	0	ENST00000390247.2:c.155G>T	p.Ser52Ile	p.S52I	ENST00000390247		52	aGc/aTc	0	T:0	.	.	.	.	A	S/I	IG_V_gene	YES	.	155	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGCTGCTG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,PROSITE_profiles:PS50835	.	T:0.0002	ENSP00000374782	.	2/2	.	.	.	.	.	.	.	.	rs369120313	2/2	PASS	ENST00000390247	Transcript	.	.	ENSG00000243063	5821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	deleterious(0.01)	.	.	IGKV3-7	HGNC	.	.	UPI000173A596	SNV	IGKV3-7,missense_variant,p.Ser52Ile,ENST00000390247,;	252	141	200	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111780660	111780660	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	33	65	0	ENST00000452346.2:c.1337A>T	p.Gln446Leu	p.Q446L	ENST00000452346		446	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS43129.2	959	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCAGACAA	NONE	.	.	hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,Gene3D:2.60.120.290,Superfamily_domains:SSF49854	.	.	ENSP00000411645	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.02)	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,missense_variant,p.Gln446Leu,ENST00000452346,;TMPRSS7,missense_variant,p.Gln320Leu,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	1041	65	112	SUCCESS
GOLGB1	2804	.	GRCh37	3	121413069	121413069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	40	0	ENST00000340645.5:c.6286G>T	p.Ala2096Ser	p.A2096S	ENST00000340645	NM_001256487.1	2096	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS58847.1	6301	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGCTAGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2	.	.	ENSP00000377275	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000393667	Transcript	.	.	ENSG00000173230	4429	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.773)	.	.	.	GOGB1_HUMAN	GOLGB1	HGNC	C9J8Q0_HUMAN	.	UPI0001AE7645	SNV	GOLGB1,missense_variant,p.Ala2101Ser,ENST00000393667,;GOLGB1,missense_variant,p.Ala2096Ser,ENST00000340645,;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,downstream_gene_variant,,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	6412	40	65	SUCCESS
ZXDC	79364	.	GRCh37	3	126194031	126194032	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	204	32	103	0	ENST00000389709.3:c.677dup	p.Arg227AlafsTer28	p.R227Afs*28	ENST00000389709	NM_025112.4	226	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS43145.1	677-678	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCCGCTTGAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF74,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000374359	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000389709	Transcript	.	.	ENSG00000070476	28160	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZXDC_HUMAN	ZXDC	HGNC	Q9H891_HUMAN,Q69YU0_HUMAN	.	UPI0000D7A440	insertion	ZXDC,frameshift_variant,p.Arg227AlafsTer28,ENST00000389709,;ZXDC,frameshift_variant,p.Arg227AlafsTer28,ENST00000336332,;ZXDC,upstream_gene_variant,,ENST00000515545,;	731-732	103	236	SUCCESS
NMNAT3	349565	.	GRCh37	3	139297767	139297767	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	83	0	ENST00000296202.7:c.240G>A	p.Val80=	p.V80=	ENST00000296202		80	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3111.1	129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCACCCG	NONE	.	.	hmmpanther:PTHR12039:SF1,hmmpanther:PTHR12039,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00482,Pfam_domain:PF01467,Superfamily_domains:SSF52374	.	.	ENSP00000384319	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000406164	Transcript	.	.	ENSG00000163864	20989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMNA3_HUMAN	NMNAT3	HGNC	Q49AL4_HUMAN	.	UPI000007384A	SNV	NMNAT3,synonymous_variant,p.%3D,ENST00000406164,;NMNAT3,synonymous_variant,p.%3D,ENST00000509291,;NMNAT3,synonymous_variant,p.%3D,ENST00000511444,;NMNAT3,synonymous_variant,p.%3D,ENST00000339837,;NMNAT3,synonymous_variant,p.%3D,ENST00000512391,;NMNAT3,synonymous_variant,p.%3D,ENST00000296202,;NMNAT3,5_prime_UTR_variant,,ENST00000406824,;NMNAT3,intron_variant,,ENST00000413939,;RP11-319G6.1,intron_variant,,ENST00000515247,;RP11-319G6.1,intron_variant,,ENST00000381790,;NMNAT3,non_coding_transcript_exon_variant,,ENST00000507242,;NMNAT3,upstream_gene_variant,,ENST00000509447,;NMNAT3,synonymous_variant,p.%3D,ENST00000506254,;RP11-553K23.2,downstream_gene_variant,,ENST00000514454,;	693	83	93	SUCCESS
ATR	545	.	GRCh37	3	142217617	142217617	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	106	0	ENST00000350721.4:c.5381-1G>T		p.X1794_splice	ENST00000350721	NM_001184.3	1794		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3124.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCTGAAA	NONE	.	.	.	.	.	ENSP00000343741	.	.	.	.	.	.	.	.	.	.	COSM1757074	.	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	HIGH	31/46	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,splice_acceptor_variant,,ENST00000383101,;ATR,splice_acceptor_variant,,ENST00000350721,;ATR,splice_acceptor_variant,,ENST00000514393,;ATR,splice_acceptor_variant,,ENST00000507620,;	.	106	135	SUCCESS
C3orf20	84077	.	GRCh37	3	14745959	14745959	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	24	108	0	ENST00000253697.3:c.994A>G	p.Thr332Ala	p.T332A	ENST00000253697	NM_032137.4	332	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS33706.1	994	RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGACCCCG	NONE	.	.	hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	.	.	ENSP00000253697	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000253697	Transcript	.	.	ENSG00000131379	25320	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.38)	.	CC020_HUMAN	C3orf20	HGNC	.	.	UPI000013CDE9	SNV	C3orf20,missense_variant,p.Thr210Ala,ENST00000435614,;C3orf20,missense_variant,p.Thr210Ala,ENST00000412910,;C3orf20,missense_variant,p.Thr332Ala,ENST00000253697,;C3orf20,non_coding_transcript_exon_variant,,ENST00000495387,;	1446	108	185	SUCCESS
YEATS2	55689	.	GRCh37	3	183480001	183480001	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	43	0	ENST00000305135.5:c.1881C>A	p.Ser627=	p.S627=	ENST00000305135	NM_018023.4	627	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS43175.1	1881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCCCCTCA	NONE	.	.	hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7	.	.	ENSP00000306983	.	15/31	.	.	.	.	.	.	.	.	COSM3590572,COSM3590573	15/31	PASS	ENST00000305135	Transcript	.	.	ENSG00000163872	25489	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	YETS2_HUMAN	YEATS2	HGNC	.	.	UPI00001BB2B9	SNV	YEATS2,synonymous_variant,p.%3D,ENST00000305135,;	2076	43	42	SUCCESS
VWA5B2	90113	.	GRCh37	3	183959188	183959188	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	167	67	165	0	ENST00000426955.2:c.3176C>G	p.Pro1059Arg	p.P1059R	ENST00000426955	NM_138345.1	1059	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS54686.1	3176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCCTTGG	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107	.	.	ENSP00000398688	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000426955	Transcript	.	.	ENSG00000145198	25144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	VW5B2_HUMAN	VWA5B2	HGNC	.	.	UPI0000412DE9	SNV	VWA5B2,missense_variant,p.Pro841Arg,ENST00000273794,;VWA5B2,missense_variant,p.Pro1059Arg,ENST00000426955,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,downstream_gene_variant,,ENST00000446569,;ALG3,downstream_gene_variant,,ENST00000418734,;ALG3,downstream_gene_variant,,ENST00000445626,;ALG3,downstream_gene_variant,,ENST00000455059,;ALG3,downstream_gene_variant,,ENST00000397676,;MIR1224,upstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000493493,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;ALG3,downstream_gene_variant,,ENST00000477959,;ALG3,downstream_gene_variant,,ENST00000423996,;VWA5B2,downstream_gene_variant,,ENST00000474580,;ALG3,downstream_gene_variant,,ENST00000411922,;ALG3,downstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000414845,;	3276	165	235	SUCCESS
MUC4	4585	.	GRCh37	3	195513697	195513697	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	78	1	ENST00000463781.3:c.4754T>C	p.Leu1585Pro	p.L1585P	ENST00000463781	NM_018406.6	1585	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS54700.1	4754	MUTECT|MUSE	.	CAGGAAGAGGG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.946)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Leu1585Pro,ENST00000475231,;MUC4,missense_variant,p.Leu1585Pro,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Leu1585Pro,ENST00000477086,;MUC4,missense_variant,p.Leu1585Pro,ENST00000466475,;MUC4,missense_variant,p.Leu1585Pro,ENST00000478156,;MUC4,missense_variant,p.Leu1585Pro,ENST00000470451,;MUC4,missense_variant,p.Leu1585Pro,ENST00000479406,;MUC4,missense_variant,p.Leu1585Pro,ENST00000477756,;MUC4,missense_variant,p.Leu1585Pro,ENST00000462323,;MUC4,missense_variant,p.Leu1585Pro,ENST00000480843,;	5214	79	67	SUCCESS
SLC22A14	9389	.	GRCh37	3	38347464	38347464	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	27	0	ENST00000273173.4:c.-54G>T		p.*18*	ENST00000273173	NM_004803.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2677.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGATGTT	NONE	.	.	.	.	.	ENSP00000273173	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000273173	Transcript	.	.	ENSG00000144671	8495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AE_HUMAN	SLC22A14	HGNC	F5H7H1_HUMAN	.	UPI00001AE9A8	SNV	SLC22A14,5_prime_UTR_variant,,ENST00000273173,;SLC22A14,intron_variant,,ENST00000448498,;SLC22A14,intron_variant,,ENST00000466887,;RNU6-235P,upstream_gene_variant,,ENST00000362644,;SLC22A14,non_coding_transcript_exon_variant,,ENST00000496724,;	38	27	55	SUCCESS
CHL1	10752	.	GRCh37	3	384669	384669	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	53	124	1	ENST00000397491.2:c.679+904A>G		p.*227*	ENST00000397491		228		0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS2556.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTAAAGCAT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	.	.	ENSP00000256509	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	tolerated(0.1)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Lys228Glu,ENST00000256509,;CHL1,intron_variant,,ENST00000397491,;CHL1,downstream_gene_variant,,ENST00000435603,;CHL1,intron_variant,,ENST00000453040,;	1324	126	195	SUCCESS
TRAK1	22906	.	GRCh37	3	42243973	42243976	+	frameshift_variant	Frame_Shift_Del	DEL	CTCC	CTCC	TAA	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	CTCC	CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	155	27	118	0	ENST00000327628.5:c.1473_1476delinsTAA	p.Ser492AsnfsTer8	p.S492Nfs*8	ENST00000327628	NM_001042646.2	491	ggCTCC/ggTAA	0	.	.	.	.	.	TAA	GS/GX	protein_coding	YES	CCDS43072.1	1473-1476	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*	.	CCCAGGCTCCCACGA	NONE	.	.	hmmpanther:PTHR15751:SF11,hmmpanther:PTHR15751,Pfam_domain:PF12448	.	.	ENSP00000328998	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000327628	Transcript	.	.	ENSG00000182606	29947	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRAK1_HUMAN	TRAK1	HGNC	.	.	UPI0000139F52	substitution	TRAK1,frameshift_variant,p.Ser418AsnfsTer8,ENST00000449246,;TRAK1,frameshift_variant,p.Ser434AsnfsTer8,ENST00000396175,;TRAK1,frameshift_variant,p.Ser210AsnfsTer8,ENST00000427771,;TRAK1,frameshift_variant,p.Ser434AsnfsTer8,ENST00000341421,;TRAK1,frameshift_variant,p.Ser492AsnfsTer8,ENST00000327628,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;TRAK1,non_coding_transcript_exon_variant,,ENST00000484786,;	1873-1876	118	182	SUCCESS
HHATL	57467	.	GRCh37	3	42735224	42735224	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	55	0	ENST00000310417.5:c.1133T>A	p.Leu378Gln	p.L378Q	ENST00000310417		378	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2704.1	1133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGTGTG	NONE	.	.	hmmpanther:PTHR13285:SF19,hmmpanther:PTHR13285,Pfam_domain:PF03062	.	.	ENSP00000405423	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000441594	Transcript	.	.	ENSG00000010282	13242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HHATL_HUMAN	HHATL	HGNC	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN	.	UPI000012DC51	SNV	HHATL,missense_variant,p.Leu378Gln,ENST00000310417,;HHATL,missense_variant,p.Leu378Gln,ENST00000441594,;HHATL,intron_variant,,ENST00000426666,;HHATL,downstream_gene_variant,,ENST00000417472,;HHATL,downstream_gene_variant,,ENST00000457462,;KLHL40,downstream_gene_variant,,ENST00000287777,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000416756,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,non_coding_transcript_exon_variant,,ENST00000480939,;HHATL,non_coding_transcript_exon_variant,,ENST00000466007,;HHATL,upstream_gene_variant,,ENST00000490003,;	1395	55	95	SUCCESS
HHATL	57467	.	GRCh37	3	42735225	42735225	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs566301459	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	18	56	0	ENST00000310417.5:c.1132C>A	p.Leu378Met	p.L378M	ENST00000310417		378	Ctg/Atg	0	.	A:0.0008	.	A:0	.	T	L/M	protein_coding	YES	CCDS2704.1	1132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGTGTGG	NONE	by1000G	.	hmmpanther:PTHR13285:SF19,hmmpanther:PTHR13285,Pfam_domain:PF03062	A:0	.	ENSP00000405423	A:0	10/12	.	.	.	.	.	.	.	.	rs566301459	10/12	PASS	ENST00000441594	Transcript	.	A:0.0002	ENSG00000010282	13242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	A:0	deleterious(0.02)	.	HHATL_HUMAN	HHATL	HGNC	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN	.	UPI000012DC51	SNV	HHATL,missense_variant,p.Leu378Met,ENST00000310417,;HHATL,missense_variant,p.Leu378Met,ENST00000441594,;HHATL,intron_variant,,ENST00000426666,;HHATL,downstream_gene_variant,,ENST00000417472,;HHATL,downstream_gene_variant,,ENST00000457462,;KLHL40,downstream_gene_variant,,ENST00000287777,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000416756,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,non_coding_transcript_exon_variant,,ENST00000480939,;HHATL,non_coding_transcript_exon_variant,,ENST00000466007,;HHATL,upstream_gene_variant,,ENST00000490003,;	1394	56	99	SUCCESS
CCR1	1230	.	GRCh37	3	46245458	46245458	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	40	99	0	ENST00000296140.3:c.347G>T	p.Gly116Val	p.G116V	ENST00000296140	NM_001295.2	116	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2737.1	347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGCCTGTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF61,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00657	.	.	ENSP00000296140	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000296140	Transcript	.	.	ENSG00000163823	1602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CCR1_HUMAN	CCR1	HGNC	Q5U003_HUMAN	.	UPI0000043584	SNV	CCR1,missense_variant,p.Gly116Val,ENST00000296140,;CCR3,intron_variant,,ENST00000357422,;	473	99	143	SUCCESS
CCR3	1232	.	GRCh37	3	46307579	46307579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	28	0	ENST00000357422.2:c.930G>T	p.Lys310Asn	p.K310N	ENST00000357422		310	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS54574.1	993	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAGTACCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF13,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657	.	.	ENSP00000441600	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000545097	Transcript	.	.	ENSG00000183625	1604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	tolerated(0.06)	.	CCR3_HUMAN	CCR3	HGNC	Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN	.	UPI000020A60F	SNV	CCR3,missense_variant,p.Lys331Asn,ENST00000545097,;CCR3,missense_variant,p.Lys310Asn,ENST00000395940,;CCR3,missense_variant,p.Lys310Asn,ENST00000395942,;CCR3,missense_variant,p.Lys310Asn,ENST00000357422,;CCR3,missense_variant,p.Lys310Asn,ENST00000541018,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000484025,;CCR3,downstream_gene_variant,,ENST00000475150,;	1168	28	61	SUCCESS
CCR2	729230	.	GRCh37	3	46400024	46400024	+	intron_variant	Intron	SNP	T	T	C	rs1559562540	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	38	0	ENST00000292301.4:c.941+65T>C		p.*314*	ENST00000292301	NM_001123041.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43078.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTACAGG	NONE	.	.	.	.	.	ENSP00000292301	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292301	Transcript	.	.	ENSG00000121807	1603	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR2_HUMAN	CCR2	HGNC	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN	.	UPI0000043585	SNV	CCR2,missense_variant,p.Tyr336His,ENST00000445132,;CCR2,intron_variant,,ENST00000400888,;CCR2,intron_variant,,ENST00000292301,;CCR2,downstream_gene_variant,,ENST00000421659,;CCR2,non_coding_transcript_exon_variant,,ENST00000465202,;	.	38	70	SUCCESS
CCR5	1234	.	GRCh37	3	46414385	46414388	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	DEL	TGGA	TGGA	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	TGGA	TGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	37	0	ENST00000292303.4:c.-9_-6del		p.X3_splice	ENST00000292303	NM_001100168.1	3		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2739.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGGGTGGAACAAG	NONE	.	.	.	.	.	ENSP00000343985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000343801	Transcript	.	.	ENSG00000160791	1606	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCR5_HUMAN	CCR5	HGNC	Q9UBT9_HUMAN,Q9P1T4_HUMAN,Q5KSY4_HUMAN,Q5EKN0_HUMAN,Q38L21_HUMAN,J7HJP8_HUMAN,E7BJ57_HUMAN,B8LFP0_HUMAN,B8LFN8_HUMAN,A1A490_HUMAN	.	UPI000000D955	deletion	CCR5,splice_region_variant,,ENST00000292303,;CCR5,splice_region_variant,,ENST00000343801,;CCR5,5_prime_UTR_variant,,ENST00000445772,;RP11-24F11.2,intron_variant,,ENST00000451485,;	349-352	37	73	SUCCESS
LTF	4057	.	GRCh37	3	46480950	46480950	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149901533	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	64	0	ENST00000231751.4:c.1745C>A	p.Ala582Asp	p.A582D	ENST00000231751	NM_002343.3	582	gCt/gAt	0	.	A:0	.	A:0	.	T	A/D	protein_coding	YES	CCDS33747.1	1745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTAGCCCAT	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF21,hmmpanther:PTHR11485,Gene3D:3.40.190.10,Pfam_domain:PF00405,SMART_domains:SM00094,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500683,Superfamily_domains:SSF53850	A:0.001	.	ENSP00000231751	A:0	15/17	.	.	.	.	.	.	.	.	rs149901533	15/17	PASS	ENST00000231751	Transcript	.	A:0.0002	ENSG00000012223	6720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	A:0	deleterious(0.01)	.	TRFL_HUMAN	LTF	HGNC	C9J0S5_HUMAN,A8K9U8_HUMAN	.	UPI000016ABE3	SNV	LTF,missense_variant,p.Ala569Asp,ENST00000443496,;LTF,missense_variant,p.Ala580Asp,ENST00000417439,;LTF,missense_variant,p.Ala538Asp,ENST00000426532,;LTF,missense_variant,p.Ala582Asp,ENST00000231751,;LTF,non_coding_transcript_exon_variant,,ENST00000493056,;LTF,non_coding_transcript_exon_variant,,ENST00000478874,;	2041	64	126	SUCCESS
ALS2CL	259173	.	GRCh37	3	46730917	46730917	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	12	60	0	ENST00000318962.4:c.14A>T	p.Glu5Val	p.E5V	ENST00000318962	NM_147129.3	5	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2743.1	14	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCTCAGGG	NONE	.	.	hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114	.	.	ENSP00000313670	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000318962	Transcript	.	.	ENSG00000178038	20605	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.821)	.	deleterious_low_confidence(0)	.	AL2CL_HUMAN	ALS2CL	HGNC	G3V0I7_HUMAN	.	UPI00001B5641	SNV	ALS2CL,missense_variant,p.Glu5Val,ENST00000415953,;ALS2CL,missense_variant,p.Glu5Val,ENST00000318962,;ALS2CL,missense_variant,p.Glu5Val,ENST00000450172,;ALS2CL,missense_variant,p.Glu5Val,ENST00000431015,;ALS2CL,missense_variant,p.Glu5Val,ENST00000434140,;ALS2CL,upstream_gene_variant,,ENST00000423707,;	98	60	110	SUCCESS
CELSR3	1951	.	GRCh37	3	48686612	48686612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	45	0	ENST00000164024.4:c.6509G>T	p.Trp2170Leu	p.W2170L	ENST00000164024	NM_001407.2	2170	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS2775.1	6509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCAACCC	NONE	.	.	SMART_domains:SM00008,Pfam_domain:PF02793,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,PROSITE_profiles:PS50227	.	.	ENSP00000164024	.	17/35	.	.	.	.	.	.	.	.	.	17/35	PASS	ENST00000164024	Transcript	.	.	ENSG00000008300	3230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CELR3_HUMAN	CELSR3	HGNC	B4DSQ9_HUMAN	.	UPI00001AE5A6	SNV	CELSR3,missense_variant,p.Trp2175Leu,ENST00000544264,;CELSR3,missense_variant,p.Trp2170Leu,ENST00000164024,;MIR4793,upstream_gene_variant,,ENST00000577502,;	6790	45	58	SUCCESS
TCTA	6988	.	GRCh37	3	49449889	49449889	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	46	0	ENST00000273590.3:c.30G>T	p.Leu10Phe	p.L10F	ENST00000273590	NM_022171.2	10	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS2796.1	30	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCCTTGCAGGC	NONE	.	.	hmmpanther:PTHR32267,PIRSF_domain:PIRSF009935	.	.	ENSP00000273590	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000273590	Transcript	.	.	ENSG00000145022	11692	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.158)	.	tolerated(0.08)	.	TCTA_HUMAN	TCTA	HGNC	.	.	UPI0000136B22	SNV	TCTA,missense_variant,p.Leu10Phe,ENST00000273590,;RHOA,upstream_gene_variant,,ENST00000431929,;AMT,downstream_gene_variant,,ENST00000427987,;AMT,downstream_gene_variant,,ENST00000395338,;AMT,downstream_gene_variant,,ENST00000458307,;AMT,downstream_gene_variant,,ENST00000538581,;RHOA,upstream_gene_variant,,ENST00000418115,;AMT,downstream_gene_variant,,ENST00000273588,;RHOA,upstream_gene_variant,,ENST00000422781,;RHOA,upstream_gene_variant,,ENST00000454011,;RHOA,upstream_gene_variant,,ENST00000445425,;TCTA,non_coding_transcript_exon_variant,,ENST00000493381,;TCTA,non_coding_transcript_exon_variant,,ENST00000497786,;TCTA,non_coding_transcript_exon_variant,,ENST00000487432,;TCTA,non_coding_transcript_exon_variant,,ENST00000488385,;RHOA,non_coding_transcript_exon_variant,,ENST00000265538,;TCTA,non_coding_transcript_exon_variant,,ENST00000482193,;AMT,downstream_gene_variant,,ENST00000476226,;AMT,downstream_gene_variant,,ENST00000476127,;AMT,downstream_gene_variant,,ENST00000465925,;	251	46	44	SUCCESS
TCTA	6988	.	GRCh37	3	49449890	49449890	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1447266953	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	44	1	ENST00000273590.3:c.31C>T	p.Gln11Ter	p.Q11*	ENST00000273590	NM_022171.2	11	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS2796.1	31	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCAGGCT	NONE	.	.	hmmpanther:PTHR32267,PIRSF_domain:PIRSF009935	.	.	ENSP00000273590	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000273590	Transcript	.	.	ENSG00000145022	11692	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCTA_HUMAN	TCTA	HGNC	.	.	UPI0000136B22	SNV	TCTA,stop_gained,p.Gln11Ter,ENST00000273590,;RHOA,upstream_gene_variant,,ENST00000431929,;AMT,downstream_gene_variant,,ENST00000427987,;AMT,downstream_gene_variant,,ENST00000395338,;AMT,downstream_gene_variant,,ENST00000458307,;AMT,downstream_gene_variant,,ENST00000538581,;RHOA,upstream_gene_variant,,ENST00000418115,;AMT,downstream_gene_variant,,ENST00000273588,;RHOA,upstream_gene_variant,,ENST00000422781,;RHOA,upstream_gene_variant,,ENST00000454011,;RHOA,upstream_gene_variant,,ENST00000445425,;TCTA,non_coding_transcript_exon_variant,,ENST00000493381,;TCTA,non_coding_transcript_exon_variant,,ENST00000497786,;TCTA,non_coding_transcript_exon_variant,,ENST00000487432,;TCTA,non_coding_transcript_exon_variant,,ENST00000488385,;RHOA,non_coding_transcript_exon_variant,,ENST00000265538,;TCTA,non_coding_transcript_exon_variant,,ENST00000482193,;AMT,downstream_gene_variant,,ENST00000476226,;AMT,downstream_gene_variant,,ENST00000476127,;AMT,downstream_gene_variant,,ENST00000465925,;	252	45	47	SUCCESS
SLC38A3	10991	.	GRCh37	3	50256338	50256338	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	31	0	ENST00000420502.1:n.1417G>T		p.*473*	ENST00000420502				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGTCATC	NONE	.	.	.	.	.	.	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000420502	Transcript	.	.	ENSG00000188338	18044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC38A3	HGNC	.	.	.	SNV	SLC38A3,non_coding_transcript_exon_variant,,ENST00000541861,;SLC38A3,non_coding_transcript_exon_variant,,ENST00000420502,;SLC38A3,downstream_gene_variant,,ENST00000427428,;SLC38A3,downstream_gene_variant,,ENST00000445096,;SLC38A3,downstream_gene_variant,,ENST00000414604,;SLC38A3,downstream_gene_variant,,ENST00000445325,;SLC38A3,downstream_gene_variant,,ENST00000456338,;SLC38A3,downstream_gene_variant,,ENST00000439524,;SLC38A3,downstream_gene_variant,,ENST00000417851,;SLC38A3,downstream_gene_variant,,ENST00000417121,;	1417	31	65	SUCCESS
DNAH12	201625	.	GRCh37	3	57419403	57419403	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	34	0	ENST00000351747.2:c.4739T>A	p.Leu1580His	p.L1580H	ENST00000351747	NM_178504.4	1580	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	.	.	4739	MUTECT|MUSE|VARSCANS	.	CAAAAAGTTGG	NONE	.	.	hmmpanther:PTHR10676:SF250,hmmpanther:PTHR10676,Pfam_domain:PF07728,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000295937	.	31/59	.	.	.	.	.	.	.	.	.	31/59	PASS	ENST00000351747	Transcript	.	.	ENSG00000174844	2943	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	DYH12_HUMAN	DNAH12	HGNC	O15436_HUMAN	.	UPI00017AA3A8	SNV	DNAH12,missense_variant,p.Leu1580His,ENST00000351747,;DNAH12,missense_variant,p.Leu1603His,ENST00000495027,;	4920	34	61	SUCCESS
ROBO2	6092	.	GRCh37	3	77607255	77607255	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	12	82	0	ENST00000461745.1:c.1392A>T	p.Arg464Ser	p.R464S	ENST00000461745	NM_002942.4	464	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS54609.1	1440	MUTECT|MUSE	.	CCAAGAGCAAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000417335	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.537)	.	deleterious(0.01)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Arg464Ser,ENST00000332191,;ROBO2,missense_variant,p.Arg484Ser,ENST00000602589,;ROBO2,missense_variant,p.Arg464Ser,ENST00000461745,;ROBO2,missense_variant,p.Arg480Ser,ENST00000487694,;ROBO2,missense_variant,p.Arg464Ser,ENST00000473767,;	1719	82	158	SUCCESS
DHFRL1	0	.	GRCh37	3	93780424	93780424	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	51	153	0	ENST00000314636.2:c.-69A>C		p.*23*	ENST00000314636	NM_176815.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2926.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAATTCCCT	NONE	.	.	.	.	.	ENSP00000377768	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394221	Transcript	.	.	ENSG00000178700	27309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYRL1_HUMAN	DHFRL1	HGNC	C9JJ68_HUMAN	.	UPI000000DAE0	SNV	DHFRL1,5_prime_UTR_variant,,ENST00000314636,;DHFRL1,5_prime_UTR_variant,,ENST00000496983,;DHFRL1,5_prime_UTR_variant,,ENST00000394221,;NSUN3,upstream_gene_variant,,ENST00000314622,;DHFRL1,non_coding_transcript_exon_variant,,ENST00000481631,;NSUN3,upstream_gene_variant,,ENST00000485793,;NSUN3,upstream_gene_variant,,ENST00000477077,;NSUN3,upstream_gene_variant,,ENST00000468555,;NSUN3,upstream_gene_variant,,ENST00000461625,;DHFRL1,5_prime_UTR_variant,,ENST00000461173,;NSUN3,upstream_gene_variant,,ENST00000483378,;NSUN3,upstream_gene_variant,,ENST00000476588,;	382	153	212	SUCCESS
FILIP1L	11259	.	GRCh37	3	99567271	99567271	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	35	135	0	ENST00000354552.3:c.3249T>C	p.Pro1083=	p.P1083=	ENST00000354552	NM_182909.2	1083	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS43117.1	3249	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAAGGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4	.	.	ENSP00000346560	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000354552	Transcript	.	.	ENSG00000168386	24589	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FIL1L_HUMAN	FILIP1L	HGNC	C9JYJ6_HUMAN	.	UPI00001B24B2	SNV	FILIP1L,synonymous_variant,p.%3D,ENST00000487087,;FILIP1L,synonymous_variant,p.%3D,ENST00000354552,;FILIP1L,synonymous_variant,p.%3D,ENST00000331335,;FILIP1L,synonymous_variant,p.%3D,ENST00000383694,;FILIP1L,synonymous_variant,p.%3D,ENST00000471562,;FILIP1L,synonymous_variant,p.%3D,ENST00000477258,;CMSS1,intron_variant,,ENST00000421999,;CMSS1,intron_variant,,ENST00000463526,;FILIP1L,downstream_gene_variant,,ENST00000495625,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000496116,;CMSS1,intron_variant,,ENST00000491299,;	3720	135	209	SUCCESS
FILIP1L	11259	.	GRCh37	3	99567272	99567272	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770984258,rs36118713	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	35	136	0	ENST00000354552.3:c.3248C>A	p.Pro1083His	p.P1083H	ENST00000354552	NM_182909.2	1083	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS43117.1	3248	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4	.	.	ENSP00000346560	.	5/6	.	.	.	.	.	.	.	.	rs770984258,rs36118713	5/6	PASS	ENST00000354552	Transcript	.	.	ENSG00000168386	24589	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	FIL1L_HUMAN	FILIP1L	HGNC	C9JYJ6_HUMAN	.	UPI00001B24B2	SNV	FILIP1L,missense_variant,p.Pro659His,ENST00000487087,;FILIP1L,missense_variant,p.Pro1083His,ENST00000354552,;FILIP1L,missense_variant,p.Pro1083His,ENST00000331335,;FILIP1L,missense_variant,p.Pro843His,ENST00000383694,;FILIP1L,missense_variant,p.Pro843His,ENST00000471562,;FILIP1L,missense_variant,p.Pro62His,ENST00000477258,;CMSS1,intron_variant,,ENST00000421999,;CMSS1,intron_variant,,ENST00000463526,;FILIP1L,downstream_gene_variant,,ENST00000495625,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000496116,;CMSS1,intron_variant,,ENST00000491299,;	3719	136	207	SUCCESS
DNAJB14	79982	.	GRCh37	4	100822217	100822218	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	228	83	180	0	ENST00000442697.2:c.1107dup	p.Glu370ArgfsTer8	p.E370Rfs*8	ENST00000442697	NM_001278310.1	369	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS34035.1	1107-1108	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCTCTAATT	NONE	.	.	Pfam_domain:PF09320,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF212	.	.	ENSP00000404381	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000442697	Transcript	.	.	ENSG00000164031	25881	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DJB14_HUMAN	DNAJB14	HGNC	F2Z2L8_HUMAN	.	UPI0000072A32	insertion	DNAJB14,frameshift_variant,p.Glu370ArgfsTer8,ENST00000442697,;DNAJB14,3_prime_UTR_variant,,ENST00000420137,;DNAJB14,3_prime_UTR_variant,,ENST00000455208,;DNAJB14,3_prime_UTR_variant,,ENST00000334223,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000471101,;DNAJB14,downstream_gene_variant,,ENST00000398991,;	1262-1263	180	311	SUCCESS
EGF	1950	.	GRCh37	4	110915962	110915962	+	synonymous_variant	Silent	SNP	C	C	T	rs1251629116	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	39	0	ENST00000265171.5:c.2931C>T	p.Pro977=	p.P977=	ENST00000265171	NM_001963.4	977	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3689.1	2931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCCTGTC	NONE	.	.	Prints_domain:PR00009,Superfamily_domains:SSF57196,SMART_domains:SM00181,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,PROSITE_profiles:PS50026	.	.	ENSP00000265171	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,synonymous_variant,p.%3D,ENST00000503392,;EGF,synonymous_variant,p.%3D,ENST00000265171,;EGF,synonymous_variant,p.%3D,ENST00000509793,;RNU6-35P,downstream_gene_variant,,ENST00000384530,;EGF,non_coding_transcript_exon_variant,,ENST00000509996,;	3376	39	57	SUCCESS
BOD1L1	259282	.	GRCh37	4	13604910	13604910	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	38	66	0	ENST00000040738.5:c.3614A>G	p.Lys1205Arg	p.K1205R	ENST00000040738	NM_148894.2	1205	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3411.2	3614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTTGGTC	NONE	.	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,missense_variant,p.Lys1205Arg,ENST00000040738,;	3750	66	106	SUCCESS
EDNRA	1909	.	GRCh37	4	148441067	148441067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	69	0	ENST00000324300.5:c.485C>A	p.Pro162His	p.P162H	ENST00000324300	NM_001957.3	162	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS3769.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCCCTTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF31,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000315011	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000324300	Transcript	1	.	ENSG00000151617	3179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	EDNRA_HUMAN	EDNRA	HGNC	.	.	UPI00000503F9	SNV	EDNRA,missense_variant,p.Pro162His,ENST00000324300,;EDNRA,5_prime_UTR_variant,,ENST00000511804,;EDNRA,intron_variant,,ENST00000339690,;EDNRA,intron_variant,,ENST00000358556,;EDNRA,intron_variant,,ENST00000506066,;EDNRA,intron_variant,,ENST00000514245,;EDNRA,missense_variant,p.Pro162His,ENST00000510697,;	1000	69	104	SUCCESS
TMEM33	55161	.	GRCh37	4	41951403	41951403	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	23	0	ENST00000325094.5:c.614+1G>T		p.X205_splice	ENST00000325094		205		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3464.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGGTAAGC	NONE	.	.	.	.	.	ENSP00000422473	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000504986	Transcript	.	.	ENSG00000109133	25541	.	.	HIGH	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM33_HUMAN	TMEM33	HGNC	D6RAA6_HUMAN	.	UPI000004C095	SNV	TMEM33,splice_donor_variant,,ENST00000513558,;TMEM33,splice_donor_variant,,ENST00000513702,;TMEM33,splice_donor_variant,,ENST00000325094,;TMEM33,splice_donor_variant,,ENST00000508448,;TMEM33,splice_donor_variant,,ENST00000504986,;TMEM33,splice_donor_variant,,ENST00000264452,;TMEM33,downstream_gene_variant,,ENST00000506794,;	.	23	24	SUCCESS
ATP8A1	10396	.	GRCh37	4	42571193	42571193	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	248	67	249	0	ENST00000381668.5:c.1325G>A	p.Cys442Tyr	p.C442Y	ENST00000381668	NM_006095.2	442	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS3466.1	1325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCAGCCA	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Pfam_domain:PF12710,Superfamily_domains:SSF81660	.	.	ENSP00000371084	.	15/37	.	.	.	.	.	.	.	.	.	15/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,missense_variant,p.Cys442Tyr,ENST00000381668,;ATP8A1,intron_variant,,ENST00000264449,;	1557	249	316	SUCCESS
ALB	213	.	GRCh37	4	74285252	74285252	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	29	0	ENST00000295897.4:c.1681C>T	p.Pro561Ser	p.P561S	ENST00000295897	NM_000477.5	561	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS3555.1	1681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGCCCAAG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Pro561Ser,ENST00000509063,;ALB,missense_variant,p.Pro406Ser,ENST00000511370,;ALB,missense_variant,p.Pro369Ser,ENST00000415165,;ALB,missense_variant,p.Pro561Ser,ENST00000295897,;ALB,missense_variant,p.Pro411Ser,ENST00000503124,;ALB,missense_variant,p.Pro446Ser,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,intron_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;	1770	29	27	SUCCESS
DSPP	1834	.	GRCh37	4	88535128	88535128	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs372553789	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	27	135	0	ENST00000282478.7:c.1314C>A	p.His438Gln	p.H438Q	ENST00000282478		438	caC/caA	0	G:0.0005	.	.	.	.	A	H/Q	protein_coding	YES	CCDS43248.1	1314	RADIA|MUTECT|MUSE|VARSCANS	.	GGACACAGCAA	NONE	byCluster	.	hmmpanther:PTHR32093	.	G:0	ENSP00000382213	.	5/5	.	.	.	.	.	.	.	.	rs372553789	5/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.899)	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	SNV	DSPP,missense_variant,p.His438Gln,ENST00000282478,;DSPP,missense_variant,p.His438Gln,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	1434	135	179	SUCCESS
FBN2	2201	.	GRCh37	5	127685696	127685696	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs183336575	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	48	0	ENST00000262464.4:c.2814T>C		p.X938_splice	ENST00000262464	NM_001999.3	938	gaT/gaC	0	C:0.0002	C:0.0015	.	C:0	.	G	D	protein_coding	YES	CCDS34222.1	2814	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTATCTGT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19	C:0	C:0	ENSP00000424571	C:0	28/71	.	.	.	.	.	.	.	.	rs183336575,COSM1619397,COSM1619396	28/71	PASS	ENST00000508053	Transcript	1	C:0.0004	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	C:0	.	0,1,1	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;FBN2,synonymous_variant,p.%3D,ENST00000508989,;	3789	48	64	SUCCESS
FBN2	2201	.	GRCh37	5	127704957	127704957	+	synonymous_variant	Silent	SNP	T	T	C	rs1425557353	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	58	0	ENST00000262464.4:c.2166A>G	p.Ala722=	p.A722=	ENST00000262464	NM_001999.3	722	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS34222.1	2166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACTGCACC	BUFFER|p.G721S|c.2161G>A|3,BUFFER|p.G721S|c.2161G>A|3	.	.	Superfamily_domains:SSF57581,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS51364	.	.	ENSP00000424571	.	22/71	.	.	.	.	.	.	.	.	.	22/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;FBN2,synonymous_variant,p.%3D,ENST00000508989,;Y_RNA,downstream_gene_variant,,ENST00000384560,;FBN2,non_coding_transcript_exon_variant,,ENST00000511489,;	3141	58	85	SUCCESS
CHSY3	337876	.	GRCh37	5	129520910	129520910	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	12	86	0	ENST00000305031.4:c.2075A>T	p.Lys692Met	p.K692M	ENST00000305031	NM_175856.4	692	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS34223.1	2075	MUTECT|MUSE|VARSCANS	.	AATGAAGGGAG	NONE	.	.	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Pfam_domain:PF05679,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000302629	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000305031	Transcript	.	.	ENSG00000198108	24293	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	tolerated(0.15)	.	CHSS3_HUMAN	CHSY3	HGNC	Q1JTV1_HUMAN	.	UPI0000251E08	SNV	CHSY3,missense_variant,p.Lys692Met,ENST00000305031,;CHSY3,downstream_gene_variant,,ENST00000507545,;	2433	86	124	SUCCESS
SLC4A9	83697	.	GRCh37	5	139740530	139740530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	53	0	ENST00000507527.1:c.436C>T	p.Pro146Ser	p.P146S	ENST00000507527		146	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS58973.1	436	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCCAGCT	NONE	.	.	Superfamily_domains:SSF55804,Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453:SF33,hmmpanther:PTHR11453	.	.	ENSP00000230993	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000230993	Transcript	.	.	ENSG00000113073	11035	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	tolerated(0.33)	.	B3A4_HUMAN	SLC4A9	HGNC	.	.	UPI000018336F	SNV	SLC4A9,missense_variant,p.Pro146Ser,ENST00000230993,;SLC4A9,missense_variant,p.Pro146Ser,ENST00000507527,;SLC4A9,missense_variant,p.Pro122Ser,ENST00000506757,;SLC4A9,missense_variant,p.Pro122Ser,ENST00000506545,;SLC4A9,missense_variant,p.Pro122Ser,ENST00000432095,;CTC-329D1.3,upstream_gene_variant,,ENST00000520443,;SLC4A9,upstream_gene_variant,,ENST00000514849,;	471	53	72	SUCCESS
PCDH1	5097	.	GRCh37	5	141248170	141248170	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	48	0	ENST00000394536.3:c.867A>G	p.Leu289=	p.L289=	ENST00000394536	NM_002587.4	289	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4267.1	867	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGATAGTTC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000287008	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000287008	Transcript	.	.	ENSG00000156453	8655	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDH1_HUMAN	PCDH1	HGNC	D6RBG2_HUMAN	.	UPI000016158F	SNV	PCDH1,synonymous_variant,p.%3D,ENST00000536585,;PCDH1,synonymous_variant,p.%3D,ENST00000456271,;PCDH1,synonymous_variant,p.%3D,ENST00000287008,;PCDH1,synonymous_variant,p.%3D,ENST00000503492,;PCDH1,synonymous_variant,p.%3D,ENST00000394536,;PCDH1,synonymous_variant,p.%3D,ENST00000357517,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,upstream_gene_variant,,ENST00000511044,;PCDH1,synonymous_variant,p.%3D,ENST00000505937,;PCDH1,upstream_gene_variant,,ENST00000515351,;	1015	48	76	SUCCESS
KCTD16	57528	.	GRCh37	5	143586687	143586687	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	9	38	0	ENST00000507359.3:c.410G>A	p.Ser137Asn	p.S137N	ENST00000507359	NM_020768.3	137	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS34260.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGTGACT	NONE	.	.	hmmpanther:PTHR14499:SF28,hmmpanther:PTHR14499	.	.	ENSP00000426548	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000507359	Transcript	.	.	ENSG00000183775	29244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0.01)	.	KCD16_HUMAN	KCTD16	HGNC	.	.	UPI000004A046	SNV	KCTD16,missense_variant,p.Ser137Asn,ENST00000507359,;KCTD16,missense_variant,p.Ser137Asn,ENST00000512467,;	1501	38	58	SUCCESS
FBXO38	81545	.	GRCh37	5	147788727	147788727	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	51	140	0	ENST00000340253.5:c.909C>G	p.Cys303Trp	p.C303W	ENST00000340253	NM_030793.4	303	tgC/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS43384.1	909	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGCAAAAA	NONE	.	.	hmmpanther:PTHR14753,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000377895	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000394370	Transcript	1	.	ENSG00000145868	28844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	FBX38_HUMAN	FBXO38	HGNC	.	.	UPI000034ECEB	SNV	FBXO38,missense_variant,p.Cys303Trp,ENST00000394370,;FBXO38,missense_variant,p.Cys303Trp,ENST00000513826,;FBXO38,missense_variant,p.Cys303Trp,ENST00000296701,;FBXO38,missense_variant,p.Cys303Trp,ENST00000340253,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509699,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,non_coding_transcript_exon_variant,,ENST00000502571,;FBXO38,upstream_gene_variant,,ENST00000508670,;FBXO38,upstream_gene_variant,,ENST00000509273,;	1010	140	184	SUCCESS
FAT2	2196	.	GRCh37	5	150925186	150925186	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	23	69	0	ENST00000261800.5:c.5502C>A	p.Pro1834=	p.P1834=	ENST00000261800	NM_001447.2	1834	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4317.1	5502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAGGGCAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,synonymous_variant,p.%3D,ENST00000261800,;	5515	69	120	SUCCESS
ADAM19	8728	.	GRCh37	5	156934075	156934075	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	93	0	ENST00000517905.1:c.979G>A	p.Gly327Arg	p.G327R	ENST00000517905		327	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4338.1	979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCTCCAG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000257527	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000257527	Transcript	.	.	ENSG00000135074	197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA19_HUMAN	ADAM19	HGNC	.	.	UPI000013CF6A	SNV	ADAM19,missense_variant,p.Gly60Arg,ENST00000430702,;ADAM19,missense_variant,p.Gly329Arg,ENST00000394020,;ADAM19,missense_variant,p.Gly327Arg,ENST00000517905,;ADAM19,missense_variant,p.Gly327Arg,ENST00000257527,;ADAM19,upstream_gene_variant,,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	1058	93	128	SUCCESS
GPRIN1	114787	.	GRCh37	5	176025588	176025588	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	59	0	ENST00000303991.4:c.1248G>A	p.Val416=	p.V416=	ENST00000303991	NM_052899.2	416	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4405.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCCACCTT	NONE	.	.	hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30	.	.	ENSP00000305839	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303991	Transcript	.	.	ENSG00000169258	24835	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIN1_HUMAN	GPRIN1	HGNC	.	.	UPI0000246D49	SNV	GPRIN1,synonymous_variant,p.%3D,ENST00000303991,;CDHR2,downstream_gene_variant,,ENST00000261944,;CDHR2,downstream_gene_variant,,ENST00000506348,;CDHR2,downstream_gene_variant,,ENST00000510636,;	1426	59	82	SUCCESS
C5orf22	55322	.	GRCh37	5	31538578	31538578	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	54	128	0	ENST00000325366.9:c.589T>G	p.Ser197Ala	p.S197A	ENST00000325366	NM_018356.2	197	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS3895.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACTCTTCT	NONE	.	.	hmmpanther:PTHR13225:SF2,hmmpanther:PTHR13225,Pfam_domain:PF12640	.	.	ENSP00000326879	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000325366	Transcript	.	.	ENSG00000082213	25639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	.	tolerated(0.49)	.	CE022_HUMAN	C5orf22	HGNC	.	.	UPI000006FDD5	SNV	C5orf22,missense_variant,p.Ser197Ala,ENST00000325366,;C5orf22,5_prime_UTR_variant,,ENST00000355907,;C5orf22,downstream_gene_variant,,ENST00000507818,;C5orf22,non_coding_transcript_exon_variant,,ENST00000517780,;C5orf22,non_coding_transcript_exon_variant,,ENST00000510530,;C5orf22,intron_variant,,ENST00000513967,;C5orf22,intron_variant,,ENST00000511208,;C5orf22,intron_variant,,ENST00000504464,;C5orf22,intron_variant,,ENST00000510659,;C5orf22,downstream_gene_variant,,ENST00000515409,;	716	128	170	SUCCESS
SNX18	112574	.	GRCh37	5	53815382	53815382	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	7	141	0	ENST00000326277.3:c.1600G>T	p.Asp534Tyr	p.D534Y	ENST00000326277	NM_052870.2	534	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS3962.1	1600	MUTECT|MUSE	.	TCCCGGACATC	NONE	.	.	hmmpanther:PTHR10555:SF13,hmmpanther:PTHR10555,Pfam_domain:PF10456,PIRSF_domain:PIRSF027744	.	.	ENSP00000317332	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326277	Transcript	.	.	ENSG00000178996	19245	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SNX18_HUMAN	SNX18	HGNC	.	.	UPI00001418B0	SNV	SNX18,missense_variant,p.Asp534Tyr,ENST00000326277,;SNX18,missense_variant,p.Asp534Tyr,ENST00000343017,;SNX18,missense_variant,p.Asp534Tyr,ENST00000381410,;	1790	141	194	SUCCESS
ERBB2IP	0	.	GRCh37	5	65370901	65370901	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	65	141	1	ENST00000284037.5:c.3806A>G	p.Asn1269Ser	p.N1269S	ENST00000284037	NM_001253697.1	1269	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS58952.1	3827	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAATTATA	NONE	.	.	.	.	.	ENSP00000426632	.	23/26	.	.	.	.	.	.	.	.	.	23/26	PASS	ENST00000506030	Transcript	.	.	ENSG00000112851	15842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	.	tolerated(0.37)	.	LAP2_HUMAN	ERBB2IP	HGNC	.	.	UPI0001D3B314	SNV	ERBB2IP,missense_variant,p.Asn106Ser,ENST00000512354,;ERBB2IP,missense_variant,p.Asn1276Ser,ENST00000506030,;ERBB2IP,missense_variant,p.Asn1224Ser,ENST00000511297,;ERBB2IP,missense_variant,p.Asn1269Ser,ENST00000284037,;ERBB2IP,missense_variant,p.Asn1228Ser,ENST00000380943,;ERBB2IP,missense_variant,p.Asn1228Ser,ENST00000380938,;ERBB2IP,missense_variant,p.Asn1228Ser,ENST00000380936,;ERBB2IP,missense_variant,p.Asn467Ser,ENST00000416865,;ERBB2IP,splice_region_variant,,ENST00000380939,;ERBB2IP,intron_variant,,ENST00000380935,;ERBB2IP,intron_variant,,ENST00000508515,;ERBB2IP,downstream_gene_variant,,ENST00000511671,;ERBB2IP,intron_variant,,ENST00000503913,;ERBB2IP,upstream_gene_variant,,ENST00000509946,;ERBB2IP,upstream_gene_variant,,ENST00000505822,;ERBB2IP,upstream_gene_variant,,ENST00000506744,;	3918	143	211	SUCCESS
AGGF1	55109	.	GRCh37	5	76342325	76342325	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs149788789	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	58	140	0	ENST00000312916.7:c.1024A>G	p.Ile342Val	p.I342V	ENST00000312916	NM_018046.4	342	Ata/Gta	0	G:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS4035.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTATAGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23106	.	G:0.0002	ENSP00000316109	.	6/14	.	.	.	.	.	.	.	.	rs149788789	6/14	PASS	ENST00000312916	Transcript	1	.	ENSG00000164252	24684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.42)	.	AGGF1_HUMAN	AGGF1	HGNC	A8K029_HUMAN	.	UPI0000231C8D	SNV	AGGF1,missense_variant,p.Ile342Val,ENST00000312916,;	1406	140	223	SUCCESS
ADCY2	108	.	GRCh37	5	7707833	7707833	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	26	52	0	ENST00000338316.4:c.1283C>A	p.Ser428Tyr	p.S428Y	ENST00000338316	NM_020546.2	428	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS3872.2	1283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTTCTG	NONE	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	.	.	ENSP00000342952	.	9/25	.	.	.	.	.	.	.	.	COSM3618002,COSM3618003	9/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.957)	.	deleterious(0)	1,1	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,missense_variant,p.Ser428Tyr,ENST00000338316,;ADCY2,missense_variant,p.Ser248Tyr,ENST00000537121,;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	1372	52	88	SUCCESS
KIAA0825	285600	.	GRCh37	5	93775731	93775731	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	204	94	216	0	ENST00000513200.3:c.2453T>A	p.Leu818Gln	p.L818Q	ENST00000513200	NM_001145678.1	818	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	.	.	2453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCAGTAGG	NONE	.	.	Pfam_domain:PF14906,Low_complexity_(Seg):seg	.	.	ENSP00000400288	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000427991	Transcript	.	.	ENSG00000185261	28532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	KIAA0825	HGNC	C9J0Q2_HUMAN	.	UPI0001D3B505	SNV	KIAA0825,missense_variant,p.Leu818Gln,ENST00000427991,;KIAA0825,missense_variant,p.Leu818Gln,ENST00000312498,;KIAA0825,missense_variant,p.Leu818Gln,ENST00000513200,;KIAA0825,non_coding_transcript_exon_variant,,ENST00000504117,;	2453	216	298	SUCCESS
CDC40	51362	.	GRCh37	6	110540596	110540596	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	15	93	0	ENST00000307731.1:c.1120A>T	p.Lys374Ter	p.K374*	ENST00000307731	NM_015891.2	374	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS5081.1	1120	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGAAAAGTA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR19852,PROSITE_profiles:PS50294	.	.	ENSP00000357928	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000368932	Transcript	.	.	ENSG00000168438	17350	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRP17_HUMAN	CDC40	HGNC	Q5SRM9_HUMAN	.	UPI0000132145	SNV	CDC40,stop_gained,p.Lys374Ter,ENST00000307731,;CDC40,stop_gained,p.Lys374Ter,ENST00000368932,;CDC40,stop_gained,p.Lys374Ter,ENST00000368930,;CDC40,upstream_gene_variant,,ENST00000445340,;CDC40,non_coding_transcript_exon_variant,,ENST00000606893,;	1221	93	108	SUCCESS
LAMA2	3908	.	GRCh37	6	129588356	129588356	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	61	0	ENST00000421865.2:c.2314G>A	p.Glu772Lys	p.E772K	ENST00000421865	NM_001079823.1	772	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS5138.1	2314	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGAATGC	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000400365	.	16/65	.	.	.	.	.	.	.	.	COSM1073101	16/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.297)	.	tolerated(0.3)	1	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Glu772Lys,ENST00000421865,;	2363	61	63	SUCCESS
GFOD1	54438	.	GRCh37	6	13470644	13470644	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	48	0	ENST00000379287.3:c.253+16226C>A		p.*85*	ENST00000379287	NM_018988.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGATGTG	NONE	.	.	.	.	.	ENSP00000452943	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000558378	Transcript	.	.	ENSG00000187461	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AL583828.1	Clone_based_ensembl_gene	.	.	UPI000013EC8F	SNV	AL583828.1,5_prime_UTR_variant,,ENST00000558378,;GFOD1,3_prime_UTR_variant,,ENST00000603223,;GFOD1,intron_variant,,ENST00000379287,;GFOD1,non_coding_transcript_exon_variant,,ENST00000379278,;GFOD1,non_coding_transcript_exon_variant,,ENST00000605067,;	392	48	88	SUCCESS
REPS1	85021	.	GRCh37	6	139265148	139265148	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	63	89	0	ENST00000450536.2:c.758A>G	p.Gln253Arg	p.Q253R	ENST00000450536	NM_001286611.1	253	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5193.2	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTGGTCC	NONE	.	.	hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF63	.	.	ENSP00000258062	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000258062	Transcript	.	.	ENSG00000135597	15578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.51)	.	REPS1_HUMAN	REPS1	HGNC	.	.	UPI000020E30A	SNV	REPS1,missense_variant,p.Gln239Arg,ENST00000529597,;REPS1,missense_variant,p.Gln253Arg,ENST00000409812,;REPS1,missense_variant,p.Gln253Arg,ENST00000258062,;REPS1,missense_variant,p.Gln253Arg,ENST00000450536,;REPS1,missense_variant,p.Gln253Arg,ENST00000415951,;REPS1,missense_variant,p.Gln253Arg,ENST00000367663,;REPS1,downstream_gene_variant,,ENST00000531675,;REPS1,missense_variant,p.Gln18Arg,ENST00000431346,;REPS1,missense_variant,p.Gln58Arg,ENST00000530575,;REPS1,intron_variant,,ENST00000483468,;REPS1,intron_variant,,ENST00000445570,;REPS1,upstream_gene_variant,,ENST00000414243,;	1337	89	99	SUCCESS
ADGB	79747	.	GRCh37	6	147049794	147049794	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	59	0	ENST00000397944.3:c.2437C>A	p.Leu813Ile	p.L813I	ENST00000397944	NM_024694.3	813	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	.	2437	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAACTCTCT	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,Gene3D:1.10.490.10	.	.	ENSP00000381036	.	20/36	.	.	.	.	.	.	.	.	.	20/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,missense_variant,p.Leu232Ile,ENST00000367493,;ADGB,missense_variant,p.Leu813Ile,ENST00000397944,;ADGB,missense_variant,p.Leu233Ile,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,downstream_gene_variant,,ENST00000326929,;	2513	59	58	SUCCESS
ADGB	79747	.	GRCh37	6	147103205	147103205	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	55	0	ENST00000397944.3:c.3912C>T	p.Ser1304=	p.S1304=	ENST00000397944	NM_024694.3	1304	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	.	3912	RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCCACAC	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283	.	.	ENSP00000381036	.	30/36	.	.	.	.	.	.	.	.	.	30/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,synonymous_variant,p.%3D,ENST00000367493,;ADGB,synonymous_variant,p.%3D,ENST00000470716,;ADGB,synonymous_variant,p.%3D,ENST00000326916,;ADGB,synonymous_variant,p.%3D,ENST00000367490,;ADGB,synonymous_variant,p.%3D,ENST00000397944,;ADGB,synonymous_variant,p.%3D,ENST00000367488,;ADGB,non_coding_transcript_exon_variant,,ENST00000523560,;ADGB,synonymous_variant,p.%3D,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;	3988	55	66	SUCCESS
SAMD5	389432	.	GRCh37	6	147830259	147830259	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	18	0	ENST00000367474.1:c.195G>C	p.Gln65His	p.Q65H	ENST00000367474	NM_001030060.2	65	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS34548.1	195	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGGACGC	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR12301,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000356444	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000367474	Transcript	.	.	ENSG00000203727	21180	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.694)	.	deleterious(0.03)	.	SAMD5_HUMAN	SAMD5	HGNC	.	.	UPI000022CCF8	SNV	SAMD5,missense_variant,p.Gln65His,ENST00000367474,;SAMD5,upstream_gene_variant,,ENST00000566741,;	197	18	23	SUCCESS
RMND1	55005	.	GRCh37	6	151751308	151751308	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	301	54	296	0	ENST00000367303.4:c.694G>A	p.Gly232Arg	p.G232R	ENST00000367303	NM_017909.3	232	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5232.1	694	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCTTCCC	NONE	.	.	hmmpanther:PTHR16255:SF1,hmmpanther:PTHR16255,Pfam_domain:PF02582	.	.	ENSP00000356272	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000367303	Transcript	.	.	ENSG00000155906	21176	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	RMND1_HUMAN	RMND1	HGNC	Q5SZ82_HUMAN	.	UPI00001AEAE1	SNV	RMND1,missense_variant,p.Gly62Arg,ENST00000444024,;RMND1,missense_variant,p.Gly21Arg,ENST00000336451,;RMND1,missense_variant,p.Gly232Arg,ENST00000367303,;	817	296	355	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056379	26056379	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	55	62	0	ENST00000343677.2:c.278T>C	p.Leu93Pro	p.L93P	ENST00000343677	NM_005319.3	93	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4577.1	278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCAGAGTG	NONE	.	.	PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467,Pfam_domain:PF00538,Gene3D:1.10.10.10,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000339566	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343677	Transcript	.	.	ENSG00000187837	4716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,missense_variant,p.Leu93Pro,ENST00000343677,;	321	62	122	SUCCESS
BTN1A1	696	.	GRCh37	6	26505270	26505270	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746578423	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	84	96	0	ENST00000244513.6:c.545G>A	p.Gly182Glu	p.G182E	ENST00000244513	NM_001732.2	182	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS4614.1	545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGGAGAGA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF53,hmmpanther:PTHR24100,Pfam_domain:PF08205,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000244513	.	3/7	.	.	.	.	.	.	.	.	rs746578423	3/7	PASS	ENST00000244513	Transcript	.	.	ENSG00000124557	1135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.585)	.	tolerated(0.05)	.	BT1A1_HUMAN	BTN1A1	HGNC	.	.	UPI000006E521	SNV	BTN1A1,missense_variant,p.Gly182Glu,ENST00000244513,;	611	96	192	SUCCESS
ZKSCAN8	7745	.	GRCh37	6	28121655	28121655	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	47	0	ENST00000330236.6:c.1597C>G	p.Leu533Val	p.L533V	ENST00000330236	NM_001278122.1	533	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS4645.1	1597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTCATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF64,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000332750	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330236	Transcript	.	.	ENSG00000198315	12983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZKSC8_HUMAN	ZKSCAN8	HGNC	.	.	UPI000013D073	SNV	ZKSCAN8,missense_variant,p.Leu533Val,ENST00000457389,;ZKSCAN8,missense_variant,p.Leu533Val,ENST00000330236,;ZKSCAN8,3_prime_UTR_variant,,ENST00000606198,;ZKSCAN8,downstream_gene_variant,,ENST00000536028,;	1781	47	75	SUCCESS
DEF6	50619	.	GRCh37	6	35287441	35287441	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	61	87	0	ENST00000316637.5:c.1356A>C	p.Glu452Asp	p.E452D	ENST00000316637	NM_022047.3	452	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS4802.1	1356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAAGAATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2	.	.	ENSP00000319831	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000316637	Transcript	.	.	ENSG00000023892	2760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	deleterious(0)	.	DEFI6_HUMAN	DEF6	HGNC	.	.	UPI000006E74E	SNV	DEF6,missense_variant,p.Glu452Asp,ENST00000316637,;DEF6,missense_variant,p.Glu197Asp,ENST00000542066,;DEF6,downstream_gene_variant,,ENST00000468102,;	1361	87	155	SUCCESS
BYSL	705	.	GRCh37	6	41889314	41889314	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	69	0	ENST00000230340.4:c.14A>T	p.Lys5Met	p.K5M	ENST00000230340	NM_004053.3	5	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS34450.1	14	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCAAGGCGG	NONE	.	.	hmmpanther:PTHR12821,hmmpanther:PTHR12821:SF0	.	.	ENSP00000230340	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000230340	Transcript	.	.	ENSG00000112578	1157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	BYST_HUMAN	BYSL	HGNC	.	.	UPI0000034CC4	SNV	BYSL,missense_variant,p.Lys5Met,ENST00000230340,;MED20,upstream_gene_variant,,ENST00000409312,;MED20,upstream_gene_variant,,ENST00000409060,;MED20,upstream_gene_variant,,ENST00000434077,;MED20,upstream_gene_variant,,ENST00000265350,;MED20,upstream_gene_variant,,ENST00000394251,;Y_RNA,upstream_gene_variant,,ENST00000384641,;MED20,upstream_gene_variant,,ENST00000482361,;MED20,upstream_gene_variant,,ENST00000467535,;BYSL,missense_variant,p.Lys5Met,ENST00000489290,;BYSL,non_coding_transcript_exon_variant,,ENST00000494032,;BYSL,non_coding_transcript_exon_variant,,ENST00000475702,;	389	69	107	SUCCESS
MEP1A	4224	.	GRCh37	6	46787312	46787312	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1374101638	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	48	56	0	ENST00000230588.4:c.427A>G	p.Ile143Val	p.I143V	ENST00000230588	NM_005588.2	143	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4918.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATTGGC	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001196,SMART_domains:SM00235,Superfamily_domains:SSF55486	.	.	ENSP00000230588	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000230588	Transcript	.	.	ENSG00000112818	7015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.01)	.	MEP1A_HUMAN	MEP1A	HGNC	.	.	UPI000006E4E9	SNV	MEP1A,missense_variant,p.Ile143Val,ENST00000230588,;	436	56	88	SUCCESS
C6ORF165	0	.	GRCh37	6	88138481	88138481	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	29	133	0	ENST00000369562.4:c.1098G>T	p.Met366Ile	p.M366I	ENST00000369562	NM_001031743.2	366	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS34498.1	1098	RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGCAATG	NONE	.	.	Pfam_domain:PF12018,hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	.	.	ENSP00000358575	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000369562	Transcript	.	.	ENSG00000272514	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.22)	.	.	C6ORF165	Uniprot_gn	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN	.	UPI00001A3AA5	SNV	C6ORF165,missense_variant,p.Met366Ile,ENST00000369562,;C6orf165,missense_variant,p.Met366Ile,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;RP3-382I10.2,upstream_gene_variant,,ENST00000403708,;	1210	133	181	SUCCESS
EPHA7	2045	.	GRCh37	6	93969103	93969103	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	59	87	0	ENST00000369303.4:c.1893C>T	p.Ser631=	p.S631=	ENST00000369303	NM_004440.3	631	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS5031.1	1893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGGAGGC	NONE	.	.	hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000358309	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,synonymous_variant,p.%3D,ENST00000369303,;	2078	87	86	SUCCESS
NYAP1	222950	.	GRCh37	7	100085812	100085812	+	synonymous_variant	Silent	SNP	C	C	T	rs372170892	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	39	88	0	ENST00000300179.2:c.468C>T	p.Ser156=	p.S156=	ENST00000300179	NM_173564.3	156	agC/agT	0	T:0	.	.	.	.	T	S	protein_coding	YES	CCDS5696.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCCGGAA	NONE	byCluster	.	hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	.	T:0.0001	ENSP00000300179	.	4/7	.	.	.	.	.	.	.	.	rs372170892,COSM3876321,COSM372309	4/7	PASS	ENST00000300179	Transcript	.	.	ENSG00000166924	22009	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,synonymous_variant,p.%3D,ENST00000454988,;NYAP1,synonymous_variant,p.%3D,ENST00000423930,;NYAP1,synonymous_variant,p.%3D,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	627	88	183	SUCCESS
FBXO24	26261	.	GRCh37	7	100190612	100190612	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	156	7	66	0	ENST00000241071.6:c.765G>T	p.Glu255Asp	p.E255D	ENST00000241071	NM_033506.2	255	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS5699.2	879	MUTECT|MUSE	.	CAGGAGACCCA	NONE	.	.	hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846	.	.	ENSP00000416558	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.217)	.	deleterious_low_confidence(0.01)	.	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,missense_variant,p.Glu241Asp,ENST00000360609,;FBXO24,missense_variant,p.Glu241Asp,ENST00000465843,;FBXO24,missense_variant,p.Glu293Asp,ENST00000427939,;FBXO24,missense_variant,p.Glu255Asp,ENST00000241071,;FBXO24,missense_variant,p.Glu243Asp,ENST00000468962,;FBXO24,downstream_gene_variant,,ENST00000466053,;FBXO24,downstream_gene_variant,,ENST00000461079,;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000442166,;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000544873,;FBXO24,downstream_gene_variant,,ENST00000498195,;FBXO24,intron_variant,,ENST00000488079,;FBXO24,downstream_gene_variant,,ENST00000474649,;	891	66	163	SUCCESS
MOGAT3	346606	.	GRCh37	7	100839352	100839352	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	38	0	ENST00000223114.4:c.901C>T	p.Leu301Phe	p.L301F	ENST00000223114	NM_178176.2	301	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS5714.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGGCGCT	NONE	.	.	Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF13	.	.	ENSP00000223114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000223114	Transcript	.	.	ENSG00000106384	23249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.05)	.	MOGT3_HUMAN	MOGAT3	HGNC	.	.	UPI00000622D1	SNV	MOGAT3,missense_variant,p.Leu301Phe,ENST00000223114,;MOGAT3,missense_variant,p.Pro233Leu,ENST00000379423,;MOGAT3,synonymous_variant,p.%3D,ENST00000440203,;	1068	38	63	SUCCESS
HBP1	26959	.	GRCh37	7	106820464	106820464	+	synonymous_variant	Silent	SNP	A	A	G	rs772877520	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	78	0	ENST00000222574.4:c.126A>G	p.Pro42=	p.P42=	ENST00000222574	NM_012257.3	42	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS5741.1	126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCATCTTC	NONE	.	.	hmmpanther:PTHR15499:SF2,hmmpanther:PTHR15499	.	.	ENSP00000222574	.	2/11	.	.	.	.	.	.	.	.	rs772877520,COSM1622181	2/11	PASS	ENST00000222574	Transcript	.	.	ENSG00000105856	23200	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HBP1_HUMAN	HBP1	HGNC	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN	.	UPI000006DC04	SNV	HBP1,synonymous_variant,p.%3D,ENST00000468410,;HBP1,synonymous_variant,p.%3D,ENST00000464009,;HBP1,synonymous_variant,p.%3D,ENST00000222574,;HBP1,synonymous_variant,p.%3D,ENST00000479011,;HBP1,synonymous_variant,p.%3D,ENST00000478930,;HBP1,synonymous_variant,p.%3D,ENST00000498408,;HBP1,synonymous_variant,p.%3D,ENST00000485846,;HBP1,synonymous_variant,p.%3D,ENST00000497535,;HBP1,downstream_gene_variant,,ENST00000468401,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;	312	78	113	SUCCESS
SLC26A4	5172	.	GRCh37	7	107314761	107314761	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754037719	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	26	57	0	ENST00000265715.3:c.568A>G	p.Ser190Gly	p.S190G	ENST00000265715	NM_000441.1	190	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS5746.1	568	RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCAGTGCC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF33,hmmpanther:PTHR11814,TIGRFAM_domain:TIGR00815	.	.	ENSP00000265715	.	5/21	.	.	.	.	.	.	.	.	rs754037719	5/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.007)	.	tolerated(0.42)	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,missense_variant,p.Ser190Gly,ENST00000265715,;SLC26A4,downstream_gene_variant,,ENST00000440056,;	792	57	134	SUCCESS
RNF148	378925	.	GRCh37	7	122342607	122342620	+	frameshift_variant	Frame_Shift_Del	DEL	AGAATGATTCCCGA	AGAATGATTCCCGA	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	AGAATGATTCCCGA	AGAATGATTCCCGA	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	64	0	ENST00000434824.1:c.185_198del	p.Phe62SerfsTer13	p.F62Sfs*13	ENST00000434824	NM_198085.1	62	tTCGGGAATCATTCT/t	0	.	.	.	.	.	-	FGNHS/X	protein_coding	YES	CCDS47692.1	185-198	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGAGGAGAATGATTCCCGAACACT	NONE	.	.	hmmpanther:PTHR22765:SF31,hmmpanther:PTHR22765	.	.	ENSP00000388207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434824	Transcript	.	.	ENSG00000235631	22411	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN148_HUMAN	RNF148	HGNC	A4D0X4_HUMAN	.	UPI000006FF1E	deletion	RNF148,frameshift_variant,p.Phe62SerfsTer13,ENST00000434824,;RNF148,intron_variant,,ENST00000447240,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000313070,;CADPS2,intron_variant,,ENST00000412584,;RNF133,upstream_gene_variant,,ENST00000340112,;	402-415	64	108	SUCCESS
CADPS2	93664	.	GRCh37	7	122526241	122526241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	12	0	ENST00000449022.2:c.151G>T	p.Gly51Cys	p.G51C	ENST00000449022	NM_017954.10	51	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS55158.1	151	MUTECT|MUSE	.	GCCGCCGCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	.	.	ENSP00000398481	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000449022	Transcript	.	.	ENSG00000081803	16018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.478)	.	deleterious(0.01)	.	CAPS2_HUMAN	CADPS2	HGNC	B3KNS2_HUMAN	.	UPI0000668808	SNV	CADPS2,missense_variant,p.Gly51Cys,ENST00000334010,;CADPS2,missense_variant,p.Gly51Cys,ENST00000449022,;CADPS2,missense_variant,p.Gly51Cys,ENST00000313070,;CADPS2,missense_variant,p.Gly51Cys,ENST00000412584,;	171	12	53	SUCCESS
TMEM229A	730130	.	GRCh37	7	123672284	123672284	+	synonymous_variant	Silent	SNP	G	G	A	rs1563049910	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	21	52	0	ENST00000455783.1:c.774C>T	p.Phe258=	p.F258=	ENST00000455783	NM_001136002.1	258	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS47694.1	774	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGAAGAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31746,hmmpanther:PTHR31746:SF2	.	.	ENSP00000395244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000455783	Transcript	.	.	ENSG00000234224	37279	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T229A_HUMAN	TMEM229A	HGNC	.	.	UPI0001823FDC	SNV	TMEM229A,synonymous_variant,p.%3D,ENST00000455783,;RP5-921G16.1,non_coding_transcript_exon_variant,,ENST00000484322,;RP4-630C24.3,downstream_gene_variant,,ENST00000472838,;	1240	52	130	SUCCESS
PARP12	64761	.	GRCh37	7	139726111	139726111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	39	0	ENST00000263549.3:c.1666G>T	p.Ala556Ser	p.A556S	ENST00000263549	NM_022750.2	556	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5857.1	1666	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGCCTTCC	NONE	.	.	Superfamily_domains:SSF56399,Pfam_domain:PF00644,Gene3D:3.90.228.10,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF15,PROSITE_profiles:PS51059	.	.	ENSP00000263549	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000263549	Transcript	.	.	ENSG00000059378	21919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(0.71)	.	PAR12_HUMAN	PARP12	HGNC	A4D1T0_HUMAN	.	UPI000006F644	SNV	PARP12,missense_variant,p.Gly150Val,ENST00000489809,;PARP12,missense_variant,p.Ala556Ser,ENST00000263549,;PARP12,missense_variant,p.Ala28Ser,ENST00000484111,;PARP12,3_prime_UTR_variant,,ENST00000473341,;PARP12,3_prime_UTR_variant,,ENST00000491598,;PARP12,non_coding_transcript_exon_variant,,ENST00000496624,;PARP12,non_coding_transcript_exon_variant,,ENST00000489383,;PARP12,non_coding_transcript_exon_variant,,ENST00000488726,;PARP12,downstream_gene_variant,,ENST00000466597,;	2540	39	90	SUCCESS
GIMAP6	474344	.	GRCh37	7	150327197	150327197	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	34	0	ENST00000328902.5:c.34G>T	p.Glu12Ter	p.E12*	ENST00000328902	NM_024711.5	12	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS34778.1	34	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903	.	.	ENSP00000330374	.	2/3	.	.	.	.	.	.	.	.	COSM3260762	2/3	PASS	ENST00000328902	Transcript	.	.	ENSG00000133561	21918	.	.	HIGH	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	GIMA6_HUMAN	GIMAP6	HGNC	.	.	UPI00001AE78F	SNV	GIMAP6,stop_gained,p.Glu12Ter,ENST00000493969,;GIMAP6,stop_gained,p.Glu12Ter,ENST00000328902,;	251	34	87	SUCCESS
PRKAG2	51422	.	GRCh37	7	151254299	151254299	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	34	72	0	ENST00000287878.4:c.1698A>G	p.Thr566=	p.T566=	ENST00000287878	NM_016203.3	566	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS5928.1	1698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTGTCTC	NONE	.	.	hmmpanther:PTHR13780:SF26,hmmpanther:PTHR13780	.	.	ENSP00000287878	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000287878	Transcript	.	.	ENSG00000106617	9386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAKG2_HUMAN	PRKAG2	HGNC	C9JUG1_HUMAN	.	UPI00001250B5	SNV	PRKAG2,synonymous_variant,p.%3D,ENST00000287878,;PRKAG2,synonymous_variant,p.%3D,ENST00000433631,;PRKAG2,synonymous_variant,p.%3D,ENST00000392801,;PRKAG2,synonymous_variant,p.%3D,ENST00000418337,;PRKAG2,synonymous_variant,p.%3D,ENST00000492843,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000479461,;PRKAG2,downstream_gene_variant,,ENST00000485183,;	2203	72	164	SUCCESS
UBE3C	9690	.	GRCh37	7	156974809	156974809	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	23	74	0	ENST00000348165.5:c.778G>C	p.Val260Leu	p.V260L	ENST00000348165	NM_014671.2	260	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS34789.1	778	RADIA|MUTECT|MUSE|VARSCANS	.	AACAAGTTTTT	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85	.	.	ENSP00000309198	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000348165	Transcript	.	.	ENSG00000009335	16803	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	deleterious(0.03)	.	UBE3C_HUMAN	UBE3C	HGNC	.	.	UPI000020E72A	SNV	UBE3C,missense_variant,p.Val217Leu,ENST00000389103,;UBE3C,missense_variant,p.Val260Leu,ENST00000348165,;	1138	74	142	SUCCESS
ZMIZ2	83637	.	GRCh37	7	44798889	44798889	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	54	1	ENST00000309315.4:c.823G>A	p.Gly275Arg	p.G275R	ENST00000309315	NM_031449.3	275	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS43576.1	823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF38	.	.	ENSP00000311778	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000309315	Transcript	.	.	ENSG00000122515	22229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	deleterious(0)	.	ZMIZ2_HUMAN	ZMIZ2	HGNC	C9JDA5_HUMAN,B3KR25_HUMAN	.	UPI00001D747B	SNV	ZMIZ2,missense_variant,p.Gly275Arg,ENST00000265346,;ZMIZ2,missense_variant,p.Gly243Arg,ENST00000433667,;ZMIZ2,missense_variant,p.Gly243Arg,ENST00000413916,;ZMIZ2,missense_variant,p.Gly275Arg,ENST00000441627,;ZMIZ2,missense_variant,p.Gly275Arg,ENST00000309315,;ZMIZ2,downstream_gene_variant,,ENST00000457123,;ZMIZ2,upstream_gene_variant,,ENST00000492558,;ZMIZ2,upstream_gene_variant,,ENST00000463056,;ZMIZ2,upstream_gene_variant,,ENST00000480964,;ZMIZ2,downstream_gene_variant,,ENST00000492001,;ZMIZ2,upstream_gene_variant,,ENST00000478045,;ZMIZ2,downstream_gene_variant,,ENST00000416856,;	946	55	73	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72419590	72419590	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	31	57	0	ENST00000388955.4:n.1189T>A		p.*397*	ENST00000388955				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59059.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCACCGGG	NONE	.	.	.	.	.	ENSP00000378687	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,3_prime_UTR_variant,,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000446813,;POM121,downstream_gene_variant,,ENST00000257622,;POM121,downstream_gene_variant,,ENST00000434423,;POM121,downstream_gene_variant,,ENST00000358357,;NSUN5P2,splice_donor_variant,,ENST00000485741,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000388955,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000602348,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000444583,;NSUN5P2,non_coding_transcript_exon_variant,,ENST00000457352,;	4622	57	153	SUCCESS
WBSCR27	0	.	GRCh37	7	73256365	73256365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	30	0	ENST00000297873.4:c.106G>T	p.Ala36Ser	p.A36S	ENST00000297873	NM_152559.2	36	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5561.1	106	MUTECT|MUSE	.	CGGAGCCCAGC	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:3.40.50.150,hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF693	.	.	ENSP00000297873	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000297873	Transcript	.	.	ENSG00000165171	19068	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.902)	.	deleterious(0)	.	WBS27_HUMAN	WBSCR27	HGNC	.	.	UPI000013E466	SNV	WBSCR27,missense_variant,p.Ala36Ser,ENST00000297873,;WBSCR27,missense_variant,p.Ala36Ser,ENST00000458679,;WBSCR27,non_coding_transcript_exon_variant,,ENST00000493174,;	156	30	107	SUCCESS
HGF	3082	.	GRCh37	7	81374398	81374398	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	7	31	0	ENST00000222390.5:c.664C>A	p.Leu222Ile	p.L222I	ENST00000222390	NM_000601.4	222	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS5597.1	664	RADIA|MUTECT|MUSE|VARSCANS	.	CATGAGACCTC	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,Superfamily_domains:SSF57440	.	.	ENSP00000222390	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	deleterious(0.04)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Leu217Ile,ENST00000453411,;HGF,missense_variant,p.Leu217Ile,ENST00000457544,;HGF,missense_variant,p.Leu222Ile,ENST00000222390,;HGF,missense_variant,p.Leu222Ile,ENST00000444829,;	891	31	52	SUCCESS
ARPC1B	10095	.	GRCh37	7	98987539	98987539	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	29	49	0	ENST00000252725.5:c.404A>G	p.Lys135Arg	p.K135R	ENST00000252725	NM_005720.3	135	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5661.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAAGCACA	NONE	.	.	hmmpanther:PTHR10709,hmmpanther:PTHR10709:SF10,Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF038093,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000389631	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000451682	Transcript	.	.	ENSG00000130429	704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.08)	.	ARC1B_HUMAN	ARPC1B	HGNC	F8VXW2_HUMAN,C9K057_HUMAN,C9JTT6_HUMAN,C9JQM8_HUMAN,C9JM51_HUMAN,C9JFG9_HUMAN,C9JEY1_HUMAN,C9JBJ7_HUMAN,C9J6C8_HUMAN,C9J4Z7_HUMAN,A4D275_HUMAN	.	UPI0000125D33	SNV	ARPC1B,missense_variant,p.Lys135Arg,ENST00000451682,;ARPC1B,missense_variant,p.Lys135Arg,ENST00000252725,;ARPC1B,downstream_gene_variant,,ENST00000431816,;ARPC1B,downstream_gene_variant,,ENST00000443222,;ARPC1B,downstream_gene_variant,,ENST00000414376,;ARPC1B,downstream_gene_variant,,ENST00000417330,;ARPC1B,downstream_gene_variant,,ENST00000418347,;ARPC1B,downstream_gene_variant,,ENST00000429246,;ARPC1A,downstream_gene_variant,,ENST00000432884,;ARPC1B,downstream_gene_variant,,ENST00000427217,;ARPC1B,downstream_gene_variant,,ENST00000458033,;ARPC1B,downstream_gene_variant,,ENST00000455009,;ARPC1B,downstream_gene_variant,,ENST00000493403,;PDAP1,downstream_gene_variant,,ENST00000496335,;ARPC1B,upstream_gene_variant,,ENST00000463078,;ARPC1B,downstream_gene_variant,,ENST00000474880,;ARPC1B,3_prime_UTR_variant,,ENST00000432343,;ARPC1B,3_prime_UTR_variant,,ENST00000445924,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484375,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000468337,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484600,;ARPC1B,upstream_gene_variant,,ENST00000491294,;ARPC1A,downstream_gene_variant,,ENST00000441989,;ARPC1B,upstream_gene_variant,,ENST00000481997,;	713	49	137	SUCCESS
BUD31	8896	.	GRCh37	7	99008688	99008688	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	30	0	ENST00000222969.5:c.-28T>A		p.X10_splice	ENST00000222969	NM_003910.3	10		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5663.1	.	MUTECT|MUSE	.	CCAGATCTTTG	NONE	.	.	.	.	.	ENSP00000386023	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000403633	Transcript	.	.	ENSG00000106245	29629	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BUD31_HUMAN	BUD31	HGNC	.	.	UPI00000015E4	SNV	BUD31,splice_region_variant,,ENST00000222969,;BUD31,splice_region_variant,,ENST00000403633,;BUD31,5_prime_UTR_variant,,ENST00000456893,;BUD31,upstream_gene_variant,,ENST00000431419,;PDAP1,upstream_gene_variant,,ENST00000350498,;snoU13,downstream_gene_variant,,ENST00000458831,;BUD31,splice_region_variant,,ENST00000496696,;BUD31,splice_region_variant,,ENST00000473447,;BUD31,splice_region_variant,,ENST00000427499,;BUD31,splice_region_variant,,ENST00000471813,;PDAP1,upstream_gene_variant,,ENST00000426447,;	502	30	66	SUCCESS
ZSCAN25	221785	.	GRCh37	7	99226838	99226838	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762255222	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	55	0	ENST00000334715.3:c.830C>T	p.Ala277Val	p.A277V	ENST00000334715		277	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5671.2	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCAAAAC	NONE	.	.	hmmpanther:PTHR23226:SF1,hmmpanther:PTHR23226	.	.	ENSP00000377708	.	8/8	.	.	.	.	.	.	.	.	rs762255222	8/8	PASS	ENST00000394152	Transcript	.	.	ENSG00000197037	21961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.33)	.	ZSC25_HUMAN	ZSCAN25	HGNC	C9K079_HUMAN,B3KPY4_HUMAN	.	UPI000050D3F2	SNV	ZSCAN25,missense_variant,p.Ala277Val,ENST00000334715,;ZSCAN25,missense_variant,p.Ala205Val,ENST00000262941,;ZSCAN25,missense_variant,p.Ala277Val,ENST00000394152,;ZSCAN25,non_coding_transcript_exon_variant,,ENST00000493443,;ZSCAN25,intron_variant,,ENST00000466948,;ZSCAN25,3_prime_UTR_variant,,ENST00000394150,;ZSCAN25,non_coding_transcript_exon_variant,,ENST00000485586,;ZSCAN25,non_coding_transcript_exon_variant,,ENST00000481424,;ZSCAN25,downstream_gene_variant,,ENST00000473646,;	1157	55	105	SUCCESS
MCM7	4176	.	GRCh37	7	99695002	99695002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	36	0	ENST00000303887.5:c.1123A>G	p.Ile375Val	p.I375V	ENST00000303887	NM_001278595.1	375	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5683.1	1123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATGTTGC	NONE	.	.	PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540,Prints_domain:PR01657	.	.	ENSP00000307288	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000303887	Transcript	.	.	ENSG00000166508	6950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.732)	.	deleterious(0.02)	.	MCM7_HUMAN	MCM7	HGNC	Q9H4N9_HUMAN,C9J8M6_HUMAN	.	UPI000012ED9E	SNV	MCM7,missense_variant,p.Ile199Val,ENST00000354230,;MCM7,missense_variant,p.Ile375Val,ENST00000303887,;MCM7,intron_variant,,ENST00000343023,;AP4M1,upstream_gene_variant,,ENST00000422582,;MCM7,downstream_gene_variant,,ENST00000425308,;AP4M1,upstream_gene_variant,,ENST00000359593,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000421755,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000439416,;MIR93,upstream_gene_variant,,ENST00000385024,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;AP4M1,upstream_gene_variant,,ENST00000495154,;AP4M1,upstream_gene_variant,,ENST00000478501,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000467516,;AP4M1,upstream_gene_variant,,ENST00000445208,;MCM7,downstream_gene_variant,,ENST00000465738,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000463195,;MCM7,downstream_gene_variant,,ENST00000463722,;MCM7,downstream_gene_variant,,ENST00000477372,;AP4M1,upstream_gene_variant,,ENST00000394061,;MCM7,downstream_gene_variant,,ENST00000465688,;	1769	36	90	SUCCESS
CTHRC1	115908	.	GRCh37	8	104384015	104384015	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs387907029	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	84	0	ENST00000330295.5:c.131A>G	p.Gln44Arg	p.Q44R	ENST00000330295	NM_138455.3	44	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS6299.1	131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CCGGCAGAGGG	NONE	byCluster	.	hmmpanther:PTHR24637,hmmpanther:PTHR24637:SF208	.	.	ENSP00000330523	.	1/4	.	.	.	.	.	.	.	.	rs387907029,CM116250	1/4	PASS	ENST00000330295	Transcript	1	.	ENSG00000164932	18831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.018)	.	tolerated_low_confidence(0.11)	.	CTHR1_HUMAN	CTHRC1	HGNC	E5RK99_HUMAN	.	UPI0000073CB3	SNV	CTHRC1,missense_variant,p.Gln44Arg,ENST00000330295,;CTHRC1,missense_variant,p.Gln44Arg,ENST00000415886,;CTHRC1,upstream_gene_variant,,ENST00000520337,;	273	84	141	SUCCESS
RP1L1	94137	.	GRCh37	8	10470654	10470654	+	synonymous_variant	Silent	SNP	G	G	A	rs200317816	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	51	0	ENST00000382483.3:c.954C>T	p.Asp318=	p.D318=	ENST00000382483	NM_178857.5	318	gaC/gaT	0	A:0	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS43708.1	954	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGTCCTC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	A:0	A:0.0004	ENSP00000371923	A:0	4/4	.	.	.	.	.	.	.	.	rs200317816,COSM3929325	4/4	common_in_exac	ENST00000382483	Transcript	1	A:0.0078	ENSG00000183638	15946	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0.0399	.	0,1	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,synonymous_variant,p.%3D,ENST00000382483,;	1178	51	87	SUCCESS
CTSB	1508	.	GRCh37	8	11705647	11705647	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	36	51	0	ENST00000345125.3:c.461A>G	p.Tyr154Cys	p.Y154C	ENST00000345125	NM_147781.2	154	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS5986.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGATAGCCA	NONE	.	.	hmmpanther:PTHR12411:SF285,hmmpanther:PTHR12411,Pfam_domain:PF00112,Gene3D:3.90.70.10,SMART_domains:SM00645,Superfamily_domains:SSF54001	.	.	ENSP00000345672	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000353047	Transcript	.	.	ENSG00000164733	2527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.174)	.	deleterious(0.01)	.	CATB_HUMAN	CTSB	HGNC	R4GMQ5_HUMAN,Q8TAC7_HUMAN,E9PSG5_HUMAN,E9PS78_HUMAN,E9PR54_HUMAN,E9PR00_HUMAN,E9PQM1_HUMAN,E9PNL5_HUMAN,E9PLY3_HUMAN,E9PL32_HUMAN,E9PKX0_HUMAN,E9PKQ7_HUMAN,E9PJ67_HUMAN,E9PIS1_HUMAN,E9PID0_HUMAN,E9PHZ5_HUMAN	.	UPI000013E3F0	SNV	CTSB,missense_variant,p.Tyr154Cys,ENST00000453527,;CTSB,missense_variant,p.Tyr154Cys,ENST00000530640,;CTSB,missense_variant,p.Tyr154Cys,ENST00000530296,;CTSB,missense_variant,p.Tyr154Cys,ENST00000533455,;CTSB,missense_variant,p.Tyr154Cys,ENST00000345125,;CTSB,missense_variant,p.Tyr154Cys,ENST00000353047,;CTSB,missense_variant,p.Tyr154Cys,ENST00000534636,;CTSB,missense_variant,p.Tyr154Cys,ENST00000531089,;CTSB,missense_variant,p.Tyr154Cys,ENST00000434271,;CTSB,missense_variant,p.Tyr154Cys,ENST00000533572,;CTSB,missense_variant,p.Tyr154Cys,ENST00000534510,;CTSB,3_prime_UTR_variant,,ENST00000415599,;CTSB,downstream_gene_variant,,ENST00000528965,;CTSB,downstream_gene_variant,,ENST00000526645,;CTSB,downstream_gene_variant,,ENST00000531502,;CTSB,downstream_gene_variant,,ENST00000534382,;CTSB,downstream_gene_variant,,ENST00000527243,;CTSB,downstream_gene_variant,,ENST00000505496,;CTSB,downstream_gene_variant,,ENST00000534149,;CTSB,downstream_gene_variant,,ENST00000527215,;CTSB,downstream_gene_variant,,ENST00000524500,;CTSB,downstream_gene_variant,,ENST00000532656,;CTSB,downstream_gene_variant,,ENST00000526195,;RP11-589N15.2,upstream_gene_variant,,ENST00000602711,;CTSB,non_coding_transcript_exon_variant,,ENST00000530290,;CTSB,non_coding_transcript_exon_variant,,ENST00000530624,;CTSB,non_coding_transcript_exon_variant,,ENST00000533110,;CTSB,downstream_gene_variant,,ENST00000525076,;CTSB,3_prime_UTR_variant,,ENST00000531551,;CTSB,non_coding_transcript_exon_variant,,ENST00000532409,;CTSB,non_coding_transcript_exon_variant,,ENST00000420692,;CTSB,downstream_gene_variant,,ENST00000525315,;CTSB,downstream_gene_variant,,ENST00000532370,;CTSB,upstream_gene_variant,,ENST00000526481,;	715	51	75	SUCCESS
POU5F1B	5462	.	GRCh37	8	128428491	128428491	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	30	0	ENST00000465342.2:c.380A>G	p.Glu127Gly	p.E127G	ENST00000465342		127	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS55274.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGAAGC	NONE	.	.	hmmpanther:PTHR11636:SF15,hmmpanther:PTHR11636	.	.	ENSP00000419298	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000465342	Transcript	.	.	ENSG00000212993	9223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	tolerated(0.05)	.	P5F1B_HUMAN	POU5F1B	HGNC	D5K9T1_HUMAN	.	UPI000013F18B	SNV	POU5F1B,missense_variant,p.Glu127Gly,ENST00000465342,;POU5F1B,missense_variant,p.Glu127Gly,ENST00000391675,;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	1537	30	67	SUCCESS
TUSC3	7991	.	GRCh37	8	15480657	15480657	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	30	64	0	ENST00000503731.1:c.207T>G	p.Asn69Lys	p.N69K	ENST00000503731	NM_006765.3	69	aaT/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS5994.1	207	RADIA|MUTECT|MUSE	.	ATGAATGGTGA	NONE	.	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000424544	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Asn69Lys,ENST00000382020,;TUSC3,missense_variant,p.Asn23Lys,ENST00000511783,;TUSC3,missense_variant,p.Asn69Lys,ENST00000506802,;TUSC3,missense_variant,p.Asn69Lys,ENST00000509380,;TUSC3,missense_variant,p.Asn69Lys,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,missense_variant,p.Asn69Lys,ENST00000515859,;TUSC3,missense_variant,p.Asn69Lys,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000509177,;	355	64	86	SUCCESS
TUSC3	7991	.	GRCh37	8	15480659	15480659	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1405120648	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	63	0	ENST00000503731.1:c.209G>T	p.Gly70Val	p.G70V	ENST00000503731	NM_006765.3	70	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5994.1	209	RADIA|MUTECT|MUSE	.	GAATGGTGATA	NONE	.	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000424544	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.953)	.	tolerated(0.08)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Gly70Val,ENST00000382020,;TUSC3,missense_variant,p.Gly24Val,ENST00000511783,;TUSC3,missense_variant,p.Gly70Val,ENST00000506802,;TUSC3,missense_variant,p.Gly70Val,ENST00000509380,;TUSC3,missense_variant,p.Gly70Val,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,missense_variant,p.Gly70Val,ENST00000515859,;TUSC3,missense_variant,p.Gly70Val,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000509177,;	357	63	85	SUCCESS
MTMR7	9108	.	GRCh37	8	17228586	17228586	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs368887856	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	72	0	ENST00000180173.5:c.270C>A	p.Cys90Ter	p.C90*	ENST00000180173	NM_004686.4	90	tgC/tgA	0	T:0	.	.	.	.	T	C/*	protein_coding	YES	CCDS34851.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGCAATC	NONE	.	.	hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	T:0.0001	ENSP00000180173	.	3/14	.	.	.	.	.	.	.	.	rs368887856,COSM378820	3/14	PASS	ENST00000180173	Transcript	.	.	ENSG00000003987	7454	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MTMR7_HUMAN	MTMR7	HGNC	I0EZ69_HUMAN,B4E1E5_HUMAN,B4E1B6_HUMAN	.	UPI00004DFD27	SNV	MTMR7,stop_gained,p.Cys90Ter,ENST00000521857,;MTMR7,stop_gained,p.Cys90Ter,ENST00000180173,;MTMR7,stop_gained,p.Cys90Ter,ENST00000517317,;MTMR7,downstream_gene_variant,,ENST00000521177,;	305	72	97	SUCCESS
ANK1	286	.	GRCh37	8	41518002	41518002	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	30	0	ENST00000347528.4:c.5619+1317G>C		p.*1873*	ENST00000347528	NM_020477.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47849.1	.	MUTECT|MUSE|VARSCANS	.	AGGGCCTCGGG	NONE	.	.	.	.	.	ENSP00000265709	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODIFIER	42/42	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,intron_variant,,ENST00000348036,;ANK1,intron_variant,,ENST00000520299,;ANK1,intron_variant,,ENST00000352337,;ANK1,intron_variant,,ENST00000522231,;ANK1,intron_variant,,ENST00000522543,;ANK1,intron_variant,,ENST00000396945,;ANK1,intron_variant,,ENST00000265709,;ANK1,intron_variant,,ENST00000314214,;ANK1,intron_variant,,ENST00000347528,;ANK1,intron_variant,,ENST00000289734,;ANK1,intron_variant,,ENST00000457297,;ANK1,intron_variant,,ENST00000396942,;ANK1,intron_variant,,ENST00000379758,;ANK1,downstream_gene_variant,,ENST00000335651,;MIR486,non_coding_transcript_exon_variant,,ENST00000408108,;RP11-930P14.1,upstream_gene_variant,,ENST00000585088,;RP11-930P14.1,upstream_gene_variant,,ENST00000522388,;RP11-930P14.1,upstream_gene_variant,,ENST00000520418,;ANK1,downstream_gene_variant,,ENST00000524227,;ANK1,downstream_gene_variant,,ENST00000518715,;	.	30	59	SUCCESS
POTEA	340441	.	GRCh37	8	43216190	43216190	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	42	0	ENST00000519951.2:n.1581G>C		p.*527*	ENST00000519951				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGAAGAACAA	NONE	.	.	.	.	.	.	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000519951	Transcript	.	.	ENSG00000188877	33893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	POTEA	HGNC	.	.	.	SNV	POTEA,non_coding_transcript_exon_variant,,ENST00000522175,;POTEA,non_coding_transcript_exon_variant,,ENST00000519951,;	1581	42	36	SUCCESS
PRKDC	5591	.	GRCh37	8	48794637	48794637	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1201974576	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	43	0	ENST00000314191.2:c.4795A>G	p.Met1599Val	p.M1599V	ENST00000314191	NM_006904.6	1599	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	.	4795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACATGCCGT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	38/87	.	.	.	.	.	.	.	.	.	38/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Met1599Val,ENST00000338368,;PRKDC,missense_variant,p.Met1599Val,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	4852	43	60	SUCCESS
CA8	767	.	GRCh37	8	61135274	61135274	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	57	0	ENST00000317995.4:c.672C>A	p.Ile224=	p.I224=	ENST00000317995	NM_004056.4	224	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS6174.1	672	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGATGGT	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF99,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000314407	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000317995	Transcript	1	.	ENSG00000178538	1382	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH8_HUMAN	CA8	HGNC	B4DFA0_HUMAN	.	UPI000000D816	SNV	CA8,synonymous_variant,p.%3D,ENST00000317995,;CA8,non_coding_transcript_exon_variant,,ENST00000528666,;CA8,non_coding_transcript_exon_variant,,ENST00000524872,;	937	57	65	SUCCESS
EYA1	2138	.	GRCh37	8	72211880	72211880	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757772659	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	13	55	0	ENST00000340726.3:c.632C>T	p.Ser211Leu	p.S211L	ENST00000340726	NM_000503.4	211	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS34906.1	632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGAACTA	NONE	.	.	hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	8/18	.	.	.	.	.	.	.	.	rs757772659,CM044880	8/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.138)	.	deleterious(0.01)	.	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,missense_variant,p.Ser177Leu,ENST00000388741,;EYA1,missense_variant,p.Ser206Leu,ENST00000419131,;EYA1,missense_variant,p.Ser211Leu,ENST00000388742,;EYA1,missense_variant,p.Ser211Leu,ENST00000340726,;EYA1,missense_variant,p.Ser178Leu,ENST00000388740,;EYA1,missense_variant,p.Ser210Leu,ENST00000388743,;EYA1,missense_variant,p.Ser205Leu,ENST00000303824,;EYA1,missense_variant,p.His184Tyr,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,upstream_gene_variant,,ENST00000493349,;	1272	55	81	SUCCESS
ZBTB43	23099	.	GRCh37	9	129595192	129595192	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	61	0	ENST00000373457.1:c.404A>G	p.Asn135Ser	p.N135S	ENST00000373457		135	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS6867.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAAATCATG	NONE	.	.	hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF13	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.82)	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,missense_variant,p.Asn135Ser,ENST00000373457,;ZBTB43,missense_variant,p.Asn135Ser,ENST00000450858,;ZBTB43,missense_variant,p.Asn135Ser,ENST00000373464,;ZBTB43,missense_variant,p.Asn135Ser,ENST00000449886,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	668	61	60	SUCCESS
IFNA8	3445	.	GRCh37	9	21409382	21409382	+	synonymous_variant	Silent	SNP	A	A	G	rs759195852	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	34	66	0	ENST00000380205.1:c.207A>G	p.Lys69=	p.K69=	ENST00000380205	NM_002170.3	69	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS6507.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAAACAGTT	NONE	.	.	hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF28,Pfam_domain:PF00143,Gene3D:1.20.1250.10,SMART_domains:SM00076,Superfamily_domains:SSF47266	.	.	ENSP00000369553	.	1/1	.	.	.	.	.	.	.	.	rs759195852	1/1	PASS	ENST00000380205	Transcript	.	.	ENSG00000120242	5429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNA8_HUMAN	IFNA8	HGNC	.	.	UPI000002C35B	SNV	IFNA8,synonymous_variant,p.%3D,ENST00000380205,;	237	66	68	SUCCESS
ELAVL2	1993	.	GRCh37	9	23705038	23705038	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	57	0	ENST00000380117.1:c.365T>C	p.Ile122Thr	p.I122T	ENST00000380117		122	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS6515.1	365	MUTECT|MUSE	.	CTCTGATAGAA	NONE	.	.	hmmpanther:PTHR24011:SF199,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01661,Prints_domain:PR00961	.	.	ENSP00000380479	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000397312	Transcript	.	.	ENSG00000107105	3313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.831)	.	deleterious(0)	.	ELAV2_HUMAN	ELAVL2	HGNC	C9JB16_HUMAN,B1AM48_HUMAN	.	UPI000013C83F	SNV	ELAVL2,missense_variant,p.Ile122Thr,ENST00000440102,;ELAVL2,missense_variant,p.Ile122Thr,ENST00000380117,;ELAVL2,missense_variant,p.Ile151Thr,ENST00000380110,;ELAVL2,missense_variant,p.Ile122Thr,ENST00000397312,;ELAVL2,missense_variant,p.Ile122Thr,ENST00000223951,;ELAVL2,missense_variant,p.Ile122Thr,ENST00000544538,;ELAVL2,5_prime_UTR_variant,,ENST00000423281,;	640	57	56	SUCCESS
FAM205A	259308	.	GRCh37	9	34725971	34725971	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	55	0	ENST00000378788.3:c.1266G>C	p.Gly422=	p.G422=	ENST00000378788	NM_001141917.1	422	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS55305.1	1266	RADIA|MUSE|VARSCANS	.	TCACTCCCTGA	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4,Pfam_domain:PF14650	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,synonymous_variant,p.%3D,ENST00000378788,;	1306	55	64	SUCCESS
TPM2	7169	.	GRCh37	9	35685682	35685688	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCTGC	CTTCTGC	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	CTTCTGC	CTTCTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	49	0	ENST00000360958.2:c.330_336del	p.Gln111TrpfsTer15	p.Q111Wfs*15	ENST00000360958	NM_003289.3	110	ctGCAGAAG/ct	0	.	.	.	.	.	-	LQK/X	protein_coding	YES	CCDS6586.1	330-336	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCAGCTTCTGCAGGGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269:SF42,hmmpanther:PTHR19269,Gene3D:1.20.5.340,Pfam_domain:PF00261,Superfamily_domains:SSF57997	.	.	ENSP00000367542	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000378292	Transcript	.	.	ENSG00000198467	12011	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPM2_HUMAN	TPM2	HGNC	.	.	UPI000002B5B5	deletion	TPM2,frameshift_variant,p.Gln111TrpfsTer15,ENST00000360958,;TPM2,frameshift_variant,p.Gln111TrpfsTer15,ENST00000378300,;TPM2,frameshift_variant,p.Gln111TrpfsTer15,ENST00000378292,;TPM2,frameshift_variant,p.Gln111TrpfsTer15,ENST00000329305,;CA9,downstream_gene_variant,,ENST00000378357,;TPM2,upstream_gene_variant,,ENST00000607559,;CA9,downstream_gene_variant,,ENST00000493245,;CA9,downstream_gene_variant,,ENST00000485665,;TPM2,splice_acceptor_variant,,ENST00000604975,;TPM2,non_coding_transcript_exon_variant,,ENST00000471212,;TPM2,upstream_gene_variant,,ENST00000486018,;	1533-1539	49	40	SUCCESS
KDM4C	23081	.	GRCh37	9	6814872	6814872	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	11	0	ENST00000381309.3:c.435+127A>C		p.*145*	ENST00000381309	NM_015061.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6471.1	.	MUTECT|MUSE	.	ACAACAGGAAA	NONE	.	.	.	.	.	ENSP00000370710	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	MODIFIER	4/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,3_prime_UTR_variant,,ENST00000401787,;KDM4C,intron_variant,,ENST00000381306,;KDM4C,intron_variant,,ENST00000381309,;KDM4C,intron_variant,,ENST00000535193,;KDM4C,intron_variant,,ENST00000543771,;KDM4C,intron_variant,,ENST00000536108,;KDM4C,intron_variant,,ENST00000442236,;KDM4C,intron_variant,,ENST00000489243,;KDM4C,intron_variant,,ENST00000480996,;KDM4C,intron_variant,,ENST00000438023,;	.	11	12	SUCCESS
FAM189A2	9413	.	GRCh37	9	72000833	72000833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	62	0	ENST00000257515.8:c.826G>T	p.Asp276Tyr	p.D276Y	ENST00000257515	NM_004816.3	276	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS6629.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTGACCCT	NONE	.	.	hmmpanther:PTHR17615:SF8,hmmpanther:PTHR17615	.	.	ENSP00000257515	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000257515	Transcript	.	.	ENSG00000135063	24820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	F1892_HUMAN	FAM189A2	HGNC	.	.	UPI000022D765	SNV	FAM189A2,missense_variant,p.Asp276Tyr,ENST00000455972,;FAM189A2,missense_variant,p.Asp276Tyr,ENST00000257515,;FAM189A2,missense_variant,p.Asp111Tyr,ENST00000303068,;FAM189A2,upstream_gene_variant,,ENST00000377216,;FAM189A2,non_coding_transcript_exon_variant,,ENST00000469179,;FAM189A2,non_coding_transcript_exon_variant,,ENST00000460871,;	1246	62	55	SUCCESS
PCSK5	5125	.	GRCh37	9	78965753	78965753	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1223721563	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	50	0	ENST00000545128.1:c.4895C>A	p.Ala1632Glu	p.A1632E	ENST00000545128	NM_001190482.1	1632	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS55320.1	4895	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGTTGA	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,Gene3D:2.10.220.10,SMART_domains:SM00261,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000446280	.	35/37	.	.	.	.	.	.	.	.	.	35/37	PASS	ENST00000545128	Transcript	.	.	ENSG00000099139	8747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.19)	.	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,missense_variant,p.Ala1332Glu,ENST00000424854,;PCSK5,missense_variant,p.Ala1632Glu,ENST00000545128,;	5433	50	61	SUCCESS
VPS13A	23230	.	GRCh37	9	79973288	79973288	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775841320	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	60	0	ENST00000360280.3:c.7969C>G	p.His2657Asp	p.H2657D	ENST00000360280	NM_033305.2	2657	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS6655.1	7969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATACATGGT	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	57/72	.	.	.	.	.	.	.	.	rs775841320	57/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.09)	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,missense_variant,p.His2657Asp,ENST00000357409,;VPS13A,missense_variant,p.His2657Asp,ENST00000376634,;VPS13A,missense_variant,p.His2618Asp,ENST00000376636,;VPS13A,missense_variant,p.His2657Asp,ENST00000360280,;VPS13A,downstream_gene_variant,,ENST00000355766,;	8229	60	102	SUCCESS
HNRNPH2	3188	.	GRCh37	X	100668006	100668006	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	70	0	ENST00000316594.5:c.1030G>T	p.Ala344Ser	p.A344S	ENST00000316594	NM_001199974.1	344	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS14485.1	1030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGCTATG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR13976:SF33,hmmpanther:PTHR13976,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000361927	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000316594	Transcript	.	.	ENSG00000126945	5042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	HNRH2_HUMAN	HNRNPH2	HGNC	.	.	UPI0000134537	SNV	HNRNPH2,missense_variant,p.Ala344Ser,ENST00000316594,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409170,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409338,;	1108	70	105	SUCCESS
ZNF280C	55609	.	GRCh37	X	129350034	129350035	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	37	0	ENST00000370978.4:c.1568dup	p.Leu523PhefsTer28	p.L523Ffs*28	ENST00000370978	NM_017666.4	523	tta/ttTa	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS14622.1	1568-1569	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGGTAATTT	NONE	.	.	hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	.	.	ENSP00000360017	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000370978	Transcript	.	.	ENSG00000056277	25955	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	Z280C_HUMAN	ZNF280C	HGNC	.	.	UPI0000071981	insertion	ZNF280C,frameshift_variant,p.Leu523PhefsTer28,ENST00000370978,;ZNF280C,frameshift_variant,p.Leu474PhefsTer28,ENST00000447817,;	1722-1723	37	77	SUCCESS
CRLF2	64109	.	GRCh37	X	1327776	1327776	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1465167956	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	361	63	350	0	ENST00000381566.1:c.105C>G	p.Ile35Met	p.I35M	ENST00000381566		35	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	.	105	RADIA|MUTECT|MUSE|VARSCANS	.	AAGTAGATGAT	NONE	.	.	Superfamily_domains:SSF49265,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF5	.	.	ENSP00000370979	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000381567	Transcript	.	.	ENSG00000205755	14281	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	.	CRLF2	HGNC	Q4V300_HUMAN,J3QKD1_HUMAN,D0E2W4_HUMAN	.	UPI00001D7C68	SNV	CRLF2,missense_variant,p.Ile35Met,ENST00000381567,;CRLF2,missense_variant,p.Ile35Met,ENST00000381566,;CRLF2,missense_variant,p.Ile35Met,ENST00000400841,;CRLF2,non_coding_transcript_exon_variant,,ENST00000467626,;	105	350	424	SUCCESS
MAGEA11	4110	.	GRCh37	X	148798282	148798282	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	53	41	0	ENST00000355220.5:c.1136C>T	p.Pro379Leu	p.P379L	ENST00000355220	NM_005366.4	379	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS48180.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCTGCAT	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71,PROSITE_profiles:PS50838	.	.	ENSP00000347358	.	5/5	.	.	.	.	.	.	.	.	COSM611234	5/5	PASS	ENST00000355220	Transcript	.	.	ENSG00000185247	6798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	MAGAB_HUMAN	MAGEA11	HGNC	.	.	UPI0000211BB0	SNV	MAGEA11,missense_variant,p.Pro379Leu,ENST00000355220,;MAGEA11,missense_variant,p.Pro350Leu,ENST00000333104,;MAGEA11,downstream_gene_variant,,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	1238	41	103	SUCCESS
MTM1	4534	.	GRCh37	X	149818234	149818234	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs587783861	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	9	59	0	ENST00000370396.2:c.913G>A	p.Glu305Lys	p.E305K	ENST00000370396	NM_000252.2	305	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14694.1	913	MUTECT|MUSE	benign	ACGCCGAACTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF62,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000359423	.	10/15	.	.	.	.	.	.	.	.	rs587783861,COSM1215675	10/15	PASS	ENST00000370396	Transcript	.	.	ENSG00000171100	7448	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	0,1	MTM1_HUMAN	MTM1	HGNC	B7Z499_HUMAN	.	UPI000012F7F5	SNV	MTM1,missense_variant,p.Glu210Lys,ENST00000542741,;MTM1,missense_variant,p.Glu190Lys,ENST00000543350,;MTM1,missense_variant,p.Glu305Lys,ENST00000370396,;MTM1,missense_variant,p.Glu268Lys,ENST00000413012,;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;MTM1,downstream_gene_variant,,ENST00000490530,;	967	59	142	SUCCESS
RGN	9104	.	GRCh37	X	46949222	46949222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	41	0	ENST00000336169.3:c.394G>T	p.Gly132Trp	p.G132W	ENST00000336169		132	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS14272.1	394	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGGGGCC	NONE	.	.	Prints_domain:PR01791,Superfamily_domains:SSF63829,Pfam_domain:PF08450,Gene3D:2.120.10.30,hmmpanther:PTHR10907,hmmpanther:PTHR10907:SF52	.	.	ENSP00000380365	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000397180	Transcript	.	.	ENSG00000130988	9989	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RGN_HUMAN	RGN	HGNC	.	.	UPI0000135A59	SNV	RGN,missense_variant,p.Gly132Trp,ENST00000352078,;RGN,missense_variant,p.Gly132Trp,ENST00000336169,;RGN,missense_variant,p.Gly132Trp,ENST00000397180,;RGN,intron_variant,,ENST00000457380,;RNU6-1189P,downstream_gene_variant,,ENST00000383958,;RGN,intron_variant,,ENST00000475448,;RGN,downstream_gene_variant,,ENST00000469346,;	1363	41	50	SUCCESS
FAM104B	90736	.	GRCh37	X	55187569	55187569	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	42	0	ENST00000358460.4:c.20+1G>A		p.X7_splice	ENST00000358460		7		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55425.1	.	MUTECT|MUSE|VARSCANS	.	ACTTACCGTAC	NONE	.	.	.	.	.	ENSP00000397188	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425133	Transcript	.	.	ENSG00000182518	25085	.	.	HIGH	1/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F104B_HUMAN	FAM104B	HGNC	.	.	UPI0000D7A492	SNV	FAM104B,splice_donor_variant,,ENST00000472571,;FAM104B,splice_donor_variant,,ENST00000358460,;FAM104B,splice_donor_variant,,ENST00000332132,;FAM104B,splice_donor_variant,,ENST00000425133,;FAM104B,upstream_gene_variant,,ENST00000489298,;FAM104B,upstream_gene_variant,,ENST00000477847,;FAM104B,upstream_gene_variant,,ENST00000478918,;	.	42	49	SUCCESS
BRWD3	254065	.	GRCh37	X	79937564	79937576	+	frameshift_variant	Frame_Shift_Del	DEL	AACTTCATTTGTT	AACTTCATTTGTT	-	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	AACTTCATTTGTT	AACTTCATTTGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	34	0	ENST00000373275.4:c.4415_4427del	p.Lys1472SerfsTer134	p.K1472Sfs*134	ENST00000373275	NM_153252.4	1472	aAACAAATGAAGTTg/ag	0	.	.	.	.	.	-	KQMKL/X	protein_coding	YES	CCDS14447.1	4415-4427	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTGCAACTTCATTTGTTTCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266	.	.	ENSP00000362372	.	39/41	.	.	.	.	.	.	.	.	.	39/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	deletion	BRWD3,frameshift_variant,p.Lys1472SerfsTer134,ENST00000373275,;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;	4632-4644	34	74	SUCCESS
KLHL4	56062	.	GRCh37	X	86772872	86772872	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs748871862	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	70	0	ENST00000373119.4:c.-25G>C		p.*9*	ENST00000373119	NM_019117.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14456.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGGCTTT	NONE	byFrequency	.	.	.	.	ENSP00000362206	.	1/11	.	.	.	.	.	.	.	.	rs748871862	1/11	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,5_prime_UTR_variant,,ENST00000373114,;KLHL4,5_prime_UTR_variant,,ENST00000373119,;	56	70	130	SUCCESS
KLHL4	56062	.	GRCh37	X	86772873	86772873	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs754212010	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	71	0	ENST00000373119.4:c.-24G>T		p.*8*	ENST00000373119	NM_019117.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14456.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGGCTTTT	NONE	.	.	.	.	.	ENSP00000362206	.	1/11	.	.	.	.	.	.	.	.	rs754212010	1/11	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,5_prime_UTR_variant,,ENST00000373114,;KLHL4,5_prime_UTR_variant,,ENST00000373119,;	57	71	130	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4967403	4967403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	17	84	0	ENST00000400457.2:c.1721A>G	p.Gln574Arg	p.Q574R	ENST00000400457	NM_032973.2	574	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS14777.1	1784	RADIA|MUTECT|MUSE|VARSCANS	.	TGATCAGAATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.755)	.	tolerated(1)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Gln595Arg,ENST00000215473,;PCDH11Y,missense_variant,p.Gln584Arg,ENST00000333703,;PCDH11Y,missense_variant,p.Gln574Arg,ENST00000400457,;PCDH11Y,missense_variant,p.Gln595Arg,ENST00000362095,;	2518	84	106	SUCCESS
LZTS2	84445	.	GRCh37	10	102763425	102763425	+	synonymous_variant	Silent	SNP	C	C	T	rs139556482	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	33	0	ENST00000370220.1:c.570C>T	p.Ser190=	p.S190=	ENST00000370220		190	tcC/tcT	0	T:0	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS7507.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTCCTC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,HAMAP:MF_03026,hmmpanther:PTHR19354:SF4,hmmpanther:PTHR19354	T:0	T:0.0012	ENSP00000359240	T:0.001	2/4	.	.	.	.	.	.	.	.	rs139556482	2/4	common_in_exac	ENST00000370220	Transcript	.	T:0.0002	ENSG00000107816	29381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LZTS2_HUMAN	LZTS2	HGNC	S4R3W7_HUMAN,Q9BRY6_HUMAN,B1AL13_HUMAN,B1AL12_HUMAN,B1AL11_HUMAN	.	UPI00001BD944	SNV	LZTS2,synonymous_variant,p.%3D,ENST00000370223,;LZTS2,synonymous_variant,p.%3D,ENST00000370220,;LZTS2,synonymous_variant,p.%3D,ENST00000429732,;LZTS2,synonymous_variant,p.%3D,ENST00000426584,;LZTS2,synonymous_variant,p.%3D,ENST00000454422,;LZTS2,downstream_gene_variant,,ENST00000481129,;LZTS2,downstream_gene_variant,,ENST00000489526,;PDZD7,downstream_gene_variant,,ENST00000474125,;	3633	33	26	SUCCESS
HTRA1	5654	.	GRCh37	10	124273831	124273831	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1282303354	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	27	109	0	ENST00000368984.3:c.1399G>A	p.Glu467Lys	p.E467K	ENST00000368984	NM_002775.4	467	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7630.1	1399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATGAAGAT	NONE	.	.	hmmpanther:PTHR22939:SF13,hmmpanther:PTHR22939,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000357980	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000368984	Transcript	1	.	ENSG00000166033	9476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.04)	.	HTRA1_HUMAN	HTRA1	HGNC	H0Y7G9_HUMAN,A8K224_HUMAN	.	UPI0000114888	SNV	HTRA1,missense_variant,p.Glu467Lys,ENST00000368984,;HTRA1,missense_variant,p.Glu208Lys,ENST00000420892,;	1527	109	103	SUCCESS
PCDH15	65217	.	GRCh37	10	55568990	55568990	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754877961	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	124	0	ENST00000395440.1:c.1622C>T	p.Thr541Ile	p.T541I	ENST00000395440		541	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	.	.	1622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAGTATAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027	.	.	ENSP00000378827	.	12/12	.	.	.	.	.	.	.	.	rs754877961	12/12	PASS	ENST00000395440	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	.	PCDH15	HGNC	A2A3E5_HUMAN,A2A3D9_HUMAN	.	UPI0000EE0486	SNV	PCDH15,missense_variant,p.Thr541Ile,ENST00000395440,;PCDH15,missense_variant,p.Thr1607Ile,ENST00000395445,;PCDH15,missense_variant,p.Thr472Ile,ENST00000395442,;PCDH15,missense_variant,p.Thr803Ile,ENST00000395446,;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	2017	124	113	SUCCESS
TET1	80312	.	GRCh37	10	70333914	70333914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	43	0	ENST00000373644.4:c.1819A>G	p.Thr607Ala	p.T607A	ENST00000373644	NM_030625.2	607	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS7281.1	1819	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCACTTAC	NONE	.	.	PROSITE_profiles:PS51058,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2,Pfam_domain:PF02008	.	.	ENSP00000362748	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Thr607Ala,ENST00000373644,;	2028	43	37	SUCCESS
TRPC6	7225	.	GRCh37	11	101375213	101375213	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs761950641	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	59	0	ENST00000344327.3:c.487del	p.Asp163MetfsTer5	p.D163Mfs*5	ENST00000344327	NM_004621.5	163	Gat/at	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS8311.1	487	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCATCCCCAA	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,Superfamily_domains:SSF48403	.	.	ENSP00000340913	.	2/13	.	.	.	.	.	.	.	.	rs761950641,COSM3442585	2/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	deletion	TRPC6,frameshift_variant,p.Asp163MetfsTer5,ENST00000532133,;TRPC6,frameshift_variant,p.Asp163MetfsTer5,ENST00000348423,;TRPC6,frameshift_variant,p.Asp163MetfsTer5,ENST00000344327,;TRPC6,frameshift_variant,p.Asp163MetfsTer5,ENST00000360497,;TRPC6,downstream_gene_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;	912	59	75	SUCCESS
SAAL1	113174	.	GRCh37	11	18105155	18105155	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	184	58	175	0	ENST00000524803.1:c.1166del	p.Asp389ValfsTer5	p.D389Vfs*5	ENST00000524803		389	gAt/gt	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS31439.1	1166	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATCATCTTGG	NONE	.	.	hmmpanther:PTHR23424:SF4,hmmpanther:PTHR23424	.	.	ENSP00000432487	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000524803	Transcript	.	.	ENSG00000166788	25158	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAAL1_HUMAN	SAAL1	HGNC	G1UCX3_HUMAN	.	UPI00001F9E3B	deletion	SAAL1,frameshift_variant,p.Asp391ValfsTer5,ENST00000529318,;SAAL1,frameshift_variant,p.Asp388ValfsTer5,ENST00000300013,;SAAL1,frameshift_variant,p.Asp389ValfsTer5,ENST00000524803,;SAAL1,intron_variant,,ENST00000532452,;SAAL1,intron_variant,,ENST00000530436,;SAAL1,intron_variant,,ENST00000531751,;SAAL1,non_coding_transcript_exon_variant,,ENST00000534721,;SAAL1,upstream_gene_variant,,ENST00000532403,;SAAL1,3_prime_UTR_variant,,ENST00000531581,;SAAL1,non_coding_transcript_exon_variant,,ENST00000531216,;SAAL1,upstream_gene_variant,,ENST00000530237,;	1216	175	242	SUCCESS
OR52B4	143496	.	GRCh37	11	4388835	4388835	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200224336	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	87	0	ENST00000408920.2:c.691C>T	p.Pro231Ser	p.P231S	ENST00000408920	NM_001005161.3	231	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS41609.1	691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCATGT	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF89,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000386160	.	1/1	.	.	.	.	.	.	.	.	rs200224336	1/1	PASS	ENST00000408920	Transcript	.	.	ENSG00000221996	15209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.344)	.	tolerated(0.11)	.	O52B4_HUMAN	OR52B4	HGNC	.	.	UPI000013F0A2	SNV	OR52B4,missense_variant,p.Pro231Ser,ENST00000408920,;	782	87	70	SUCCESS
STK33	65975	.	GRCh37	11	8457664	8457664	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	116	0	ENST00000315204.1:c.970T>C	p.Leu324=	p.L324=	ENST00000315204	NM_030906.2	324	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS7789.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAAAAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF133,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000416750	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000447869	Transcript	.	.	ENSG00000130413	14568	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK33_HUMAN	STK33	HGNC	F8WAK5_HUMAN,E9PNP9_HUMAN,C9JCS6_HUMAN,C9J8B1_HUMAN,C9J6X7_HUMAN,C9J5G1_HUMAN,C9J319_HUMAN,B4DDH2_HUMAN	.	UPI000004496E	SNV	STK33,synonymous_variant,p.%3D,ENST00000315204,;STK33,synonymous_variant,p.%3D,ENST00000396672,;STK33,synonymous_variant,p.%3D,ENST00000534493,;STK33,synonymous_variant,p.%3D,ENST00000358872,;STK33,synonymous_variant,p.%3D,ENST00000444064,;STK33,synonymous_variant,p.%3D,ENST00000396673,;STK33,synonymous_variant,p.%3D,ENST00000447869,;STK33,downstream_gene_variant,,ENST00000524760,;STK33,non_coding_transcript_exon_variant,,ENST00000473980,;STK33,non_coding_transcript_exon_variant,,ENST00000526517,;STK33,non_coding_transcript_exon_variant,,ENST00000486305,;	1889	116	84	SUCCESS
SBF2	81846	.	GRCh37	11	9868632	9868632	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	47	178	0	ENST00000256190.8:c.2807-2A>G		p.X936_splice	ENST00000256190	NM_030962.3	936		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31427.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACTGTAAA	NONE	.	.	.	.	.	ENSP00000256190	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256190	Transcript	.	.	ENSG00000133812	2135	.	.	HIGH	22/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMRD_HUMAN	SBF2	HGNC	H0YDZ1_HUMAN	.	UPI00000622D5	SNV	SBF2,splice_acceptor_variant,,ENST00000256190,;RNU7-28P,upstream_gene_variant,,ENST00000516759,;RP11-1H15.2,intron_variant,,ENST00000533659,;SBF2,splice_acceptor_variant,,ENST00000533770,;	.	178	145	SUCCESS
UHRF1BP1L	23074	.	GRCh37	12	100452950	100452950	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	42	126	0	ENST00000279907.7:c.2105G>A	p.Trp702Ter	p.W702*	ENST00000279907	NM_015054.1	702	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS31882.1	2105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCCAAAAT	NONE	.	.	hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	.	.	ENSP00000279907	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000279907	Transcript	.	.	ENSG00000111647	29102	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UH1BL_HUMAN	UHRF1BP1L	HGNC	F8W665_HUMAN,F8VWX2_HUMAN	.	UPI0000160563	SNV	UHRF1BP1L,stop_gained,p.Trp352Ter,ENST00000545232,;UHRF1BP1L,stop_gained,p.Trp702Ter,ENST00000279907,;	2318	126	127	SUCCESS
TMEM132B	114795	.	GRCh37	12	126068404	126068404	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	41	0	ENST00000299308.3:c.1286A>T	p.Glu429Val	p.E429V	ENST00000299308	NM_052907.2	429	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS41859.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGAGGTTT	NONE	.	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	.	.	ENSP00000299308	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000299308	Transcript	.	.	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Glu429Val,ENST00000299308,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	1294	41	43	SUCCESS
NOC4L	79050	.	GRCh37	12	132636050	132636050	+	synonymous_variant	Silent	SNP	G	G	A	rs375514217	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	25	0	ENST00000330579.1:c.1095G>A	p.Val365=	p.V365=	ENST00000330579	NM_024078.1	365	gtG/gtA	0	A:0	.	.	.	.	A	V	protein_coding	YES	CCDS9277.1	1095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGGCCGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF48371,Pfam_domain:PF03914,hmmpanther:PTHR12455:SF0,hmmpanther:PTHR12455,Low_complexity_(Seg):seg	.	A:0.0001	ENSP00000328854	.	12/15	.	.	.	.	.	.	.	.	rs375514217	12/15	PASS	ENST00000330579	Transcript	.	.	ENSG00000184967	28461	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOC4L_HUMAN	NOC4L	HGNC	F5H5K6_HUMAN	.	UPI00000723C4	SNV	NOC4L,synonymous_variant,p.%3D,ENST00000330579,;NOC4L,5_prime_UTR_variant,,ENST00000538784,;NOC4L,downstream_gene_variant,,ENST00000541954,;NOC4L,non_coding_transcript_exon_variant,,ENST00000535343,;	1136	25	20	SUCCESS
SLCO1B1	10599	.	GRCh37	12	21325651	21325651	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769900186	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	126	1	ENST00000256958.2:c.152C>A	p.Ser51Tyr	p.S51Y	ENST00000256958	NM_006446.4	51	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS8685.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCCATCA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF82,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000256958	.	3/15	.	.	.	.	.	.	.	.	rs769900186	3/15	PASS	ENST00000256958	Transcript	.	.	ENSG00000134538	10959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	SO1B1_HUMAN	SLCO1B1	HGNC	K4P403_HUMAN	.	UPI0000043BED	SNV	SLCO1B1,missense_variant,p.Ser51Tyr,ENST00000256958,;RP11-125O5.2,intron_variant,,ENST00000543498,;	248	127	113	SUCCESS
RAPGEF3	10411	.	GRCh37	12	48152507	48152507	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	10	0	ENST00000389212.3:c.-80C>A		p.*27*	ENST00000389212				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41775.1	.	MUTECT|MUSE	.	AGGATGCAGGG	NONE	.	79	.	.	.	ENSP00000395708	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000449771	Transcript	.	.	ENSG00000079337	16629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPGF3_HUMAN	RAPGEF3	HGNC	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN	.	UPI0000406B36	SNV	RAPGEF3,5_prime_UTR_variant,,ENST00000389212,;RAPGEF3,5_prime_UTR_variant,,ENST00000171000,;RAPGEF3,intron_variant,,ENST00000548919,;SLC48A1,intron_variant,,ENST00000547002,;SLC48A1,intron_variant,,ENST00000548498,;RAPGEF3,intron_variant,,ENST00000549151,;RAPGEF3,upstream_gene_variant,,ENST00000449771,;RAPGEF3,upstream_gene_variant,,ENST00000466322,;RAPGEF3,upstream_gene_variant,,ENST00000395358,;SLC48A1,upstream_gene_variant,,ENST00000549243,;RAPGEF3,upstream_gene_variant,,ENST00000495953,;RAPGEF3,upstream_gene_variant,,ENST00000405493,;RAPGEF3,upstream_gene_variant,,ENST00000549347,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000547856,;SLC48A1,downstream_gene_variant,,ENST00000552003,;	.	10	8	SUCCESS
KCNA1	3736	.	GRCh37	12	5020766	5020766	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	50	0	ENST00000382545.3:c.226del	p.Leu76Ter	p.L76*	ENST00000382545	NM_000217.2	74	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS8535.1	222	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCGACCCCCT	NONE	.	.	Prints_domain:PR01496,Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF02214,Gene3D:3.30.710.10,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	deletion	KCNA1,frameshift_variant,p.Leu76Ter,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	1329	50	62	SUCCESS
SLC11A2	4891	.	GRCh37	12	51398568	51398568	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs772116399	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	57	0	ENST00000262051.7:c.429+3G>A		p.X143_splice	ENST00000262051	NM_001174127.1	143		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53793.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCACCTT	NONE	byFrequency	.	.	.	.	ENSP00000378364	.	.	.	.	.	.	.	.	.	.	rs772116399	.	PASS	ENST00000394904	Transcript	.	.	ENSG00000110911	10908	.	.	LOW	5/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRAM2_HUMAN	SLC11A2	HGNC	F8W1P7_HUMAN,F8W1F2_HUMAN,F8W154_HUMAN,F8VZL6_HUMAN,F8VWB0_HUMAN,B3KY44_HUMAN	.	UPI00001FC234	SNV	SLC11A2,splice_region_variant,,ENST00000541174,;SLC11A2,splice_region_variant,,ENST00000548193,;SLC11A2,splice_region_variant,,ENST00000547732,;SLC11A2,splice_region_variant,,ENST00000262052,;SLC11A2,splice_region_variant,,ENST00000550714,;SLC11A2,splice_region_variant,,ENST00000394904,;SLC11A2,splice_region_variant,,ENST00000547198,;SLC11A2,splice_region_variant,,ENST00000545993,;SLC11A2,splice_region_variant,,ENST00000546743,;SLC11A2,splice_region_variant,,ENST00000547688,;SLC11A2,splice_region_variant,,ENST00000547579,;SLC11A2,splice_region_variant,,ENST00000549110,;SLC11A2,splice_region_variant,,ENST00000262051,;SLC11A2,intron_variant,,ENST00000546488,;SLC11A2,downstream_gene_variant,,ENST00000549193,;SLC11A2,downstream_gene_variant,,ENST00000550995,;SLC11A2,splice_region_variant,,ENST00000547510,;SLC11A2,splice_region_variant,,ENST00000546636,;SLC11A2,downstream_gene_variant,,ENST00000550329,;SLC11A2,downstream_gene_variant,,ENST00000549625,;	.	57	45	SUCCESS
BIN2	51411	.	GRCh37	12	51693401	51693401	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	53	0	ENST00000267012.4:c.506A>T	p.Lys169Met	p.K169M	ENST00000267012	NM_016293.2	169	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS8811.1	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCTTGGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51021,hmmpanther:PTHR10321:SF11,hmmpanther:PTHR10321,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000267012	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000267012	Transcript	.	.	ENSG00000110934	1053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	BIN2_HUMAN	BIN2	HGNC	.	.	UPI000013D71F	SNV	BIN2,missense_variant,p.Lys169Met,ENST00000267012,;BIN2,missense_variant,p.Lys142Met,ENST00000604560,;BIN2,missense_variant,p.Lys143Met,ENST00000544402,;BIN2,missense_variant,p.Lys137Met,ENST00000452142,;BIN2,non_coding_transcript_exon_variant,,ENST00000605039,;BIN2,downstream_gene_variant,,ENST00000605423,;BIN2,upstream_gene_variant,,ENST00000603177,;BIN2,upstream_gene_variant,,ENST00000605819,;	568	53	35	SUCCESS
HOXC9	3225	.	GRCh37	12	54394466	54394466	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	9	0	ENST00000303450.4:c.494T>A	p.Leu165His	p.L165H	ENST00000303450	NM_006897.1	165	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS8869.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCTCGCCG	NONE	.	.	hmmpanther:PTHR24326:SF145,hmmpanther:PTHR24326,Pfam_domain:PF04617,PIRSF_domain:PIRSF037109	.	.	ENSP00000302836	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000303450	Transcript	.	.	ENSG00000180806	5130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	tolerated(0.24)	.	HXC9_HUMAN	HOXC9	HGNC	.	.	UPI000012CF79	SNV	HOXC9,missense_variant,p.Leu165His,ENST00000303450,;HOXC9,missense_variant,p.Leu165His,ENST00000508190,;HOXC6,intron_variant,,ENST00000509328,;HOXC6,intron_variant,,ENST00000504315,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC-AS2,upstream_gene_variant,,ENST00000513533,;HOXC-AS2,upstream_gene_variant,,ENST00000604081,;HOXC-AS1,upstream_gene_variant,,ENST00000505700,;HOXC-AS1,upstream_gene_variant,,ENST00000512427,;HOXC9,intron_variant,,ENST00000504557,;	564	9	16	SUCCESS
TSPAN31	6302	.	GRCh37	12	58140038	58140038	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	125	0	ENST00000257910.3:c.311A>C	p.Gln104Pro	p.Q104P	ENST00000257910	NM_005981.3	104	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS8952.1	311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGGTAA	NONE	.	.	PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF3	.	.	ENSP00000257910	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000257910	Transcript	.	.	ENSG00000135452	10539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	TSN31_HUMAN	TSPAN31	HGNC	F8VW54_HUMAN,F8VVF8_HUMAN,B4DFJ7_HUMAN	.	UPI000013557C	SNV	TSPAN31,missense_variant,p.Gln26Pro,ENST00000552816,;TSPAN31,missense_variant,p.Gln26Pro,ENST00000548167,;TSPAN31,missense_variant,p.Gln104Pro,ENST00000257910,;TSPAN31,intron_variant,,ENST00000547472,;TSPAN31,intron_variant,,ENST00000547992,;CDK4,downstream_gene_variant,,ENST00000552254,;CDK4,downstream_gene_variant,,ENST00000547281,;CDK4,downstream_gene_variant,,ENST00000552862,;CDK4,downstream_gene_variant,,ENST00000551800,;CDK4,downstream_gene_variant,,ENST00000540325,;AGAP2,upstream_gene_variant,,ENST00000257897,;CDK4,downstream_gene_variant,,ENST00000546489,;CDK4,downstream_gene_variant,,ENST00000549606,;CDK4,downstream_gene_variant,,ENST00000312990,;CDK4,downstream_gene_variant,,ENST00000257904,;CDK4,downstream_gene_variant,,ENST00000552388,;TSPAN31,splice_region_variant,,ENST00000548093,;TSPAN31,splice_region_variant,,ENST00000553221,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000550528,;TSPAN31,downstream_gene_variant,,ENST00000547311,;CDK4,downstream_gene_variant,,ENST00000551888,;TSPAN31,missense_variant,p.Gln104Pro,ENST00000549052,;TSPAN31,missense_variant,p.Gln104Pro,ENST00000553089,;TSPAN31,splice_region_variant,,ENST00000546993,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000550791,;TSPAN31,upstream_gene_variant,,ENST00000546922,;CDK4,downstream_gene_variant,,ENST00000552713,;CDK4,downstream_gene_variant,,ENST00000550419,;CDK4,downstream_gene_variant,,ENST00000553237,;CDK4,downstream_gene_variant,,ENST00000551706,;	585	125	111	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85450884	85450884	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	53	179	0	ENST00000393217.2:c.2313G>A	p.Val771=	p.V771=	ENST00000393217	NM_001079910.1	771	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS41816.1	2313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTGAAATG	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	8/27	.	.	.	.	.	.	.	.	COSM348783,COSM348782	8/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,synonymous_variant,p.%3D,ENST00000393217,;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	2374	179	141	SUCCESS
AICDA	57379	.	GRCh37	12	8759514	8759514	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	77	0	ENST00000229335.6:c.103A>T	p.Arg35Trp	p.R35W	ENST00000229335	NM_020661.2	35	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS41747.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCTCTTCA	NONE	.	.	hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF10,Pfam_domain:PF08210	.	.	ENSP00000229335	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000229335	Transcript	.	.	ENSG00000111732	13203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0.04)	.	AICDA_HUMAN	AICDA	HGNC	Q7Z599_HUMAN,Q5XM85_HUMAN,Q546Y9_HUMAN,A3QRX5_HUMAN	.	UPI000000171E	SNV	AICDA,missense_variant,p.Arg35Trp,ENST00000537228,;AICDA,missense_variant,p.Arg34Trp,ENST00000543081,;AICDA,missense_variant,p.Arg34Trp,ENST00000545512,;AICDA,missense_variant,p.Arg35Trp,ENST00000229335,;AICDA,missense_variant,p.Arg34Trp,ENST00000544516,;AICDA,non_coding_transcript_exon_variant,,ENST00000545576,;	207	77	44	SUCCESS
NALCN	259232	.	GRCh37	13	101735199	101735199	+	synonymous_variant	Silent	SNP	T	T	G	rs1594166374	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	62	0	ENST00000251127.6:c.3726A>C	p.Ala1242=	p.A1242=	ENST00000251127	NM_052867.2	1242	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9498.1	3726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTTGCCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF176,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000251127	.	33/44	.	.	.	.	.	.	.	.	.	33/44	PASS	ENST00000251127	Transcript	.	.	ENSG00000102452	19082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALCN_HUMAN	NALCN	HGNC	B3KX53_HUMAN,B3KMK1_HUMAN	.	UPI000004EBBD	SNV	NALCN,synonymous_variant,p.%3D,ENST00000251127,;	3808	62	66	SUCCESS
CCDC168	643677	.	GRCh37	13	103383301	103383301	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	159	0	ENST00000322527.2:c.5859G>C	p.Lys1953Asn	p.K1953N	ENST00000322527	NM_001146197.1	1953	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	.	5859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTCTTTCT	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.05)	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,missense_variant,p.Lys1953Asn,ENST00000322527,;	5859	159	127	SUCCESS
TUBGCP3	10426	.	GRCh37	13	113210371	113210371	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs186110739	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	76	1	ENST00000261965.3:c.716C>T	p.Thr239Met	p.T239M	ENST00000261965	NM_006322.4	239	aCg/aTg	0	.	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS9525.1	716	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACCCGTATCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR19302:SF14,hmmpanther:PTHR19302	A:0.001	.	ENSP00000261965	A:0	6/22	.	.	.	.	.	.	.	.	rs186110739	6/22	PASS	ENST00000261965	Transcript	.	A:0.0002	ENSG00000126216	18598	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.018)	A:0	tolerated(0.09)	.	GCP3_HUMAN	TUBGCP3	HGNC	.	.	UPI000000DB88	SNV	TUBGCP3,missense_variant,p.Thr239Met,ENST00000261965,;TUBGCP3,missense_variant,p.Thr239Met,ENST00000375669,;TUBGCP3,downstream_gene_variant,,ENST00000483532,;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000464139,;	903	77	69	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049446	36049446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	37	156	1	ENST00000379919.4:c.830T>C	p.Leu277Pro	p.L277P	ENST00000379919	NM_005584.4	277	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9353.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAGAGTC	NONE	.	.	hmmpanther:PTHR10656:SF38,hmmpanther:PTHR10656,Pfam_domain:PF03281	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,missense_variant,p.Leu277Pro,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1387	157	127	SUCCESS
IGHD2-21	28502	.	GRCh37	14	106354426	106354426	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781933825	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	87	0	ENST00000390572.1:c.11G>T	p.Trp4Leu	p.W4L	ENST00000390572		4	tGg/tTg	0	.	.	.	.	.	A	W/L	IG_D_gene	YES	.	11	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCACAAT	NONE	byFrequency	.	.	.	.	ENSP00000429324	.	1/1	.	.	.	.	.	.	.	.	rs781933825	1/1	PASS	ENST00000390572	Transcript	.	.	ENSG00000211912	5491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	IGHD2-21	HGNC	.	.	.	SNV	IGHD2-21,missense_variant,p.Trp4Leu,ENST00000390572,;IGHD5-18,downstream_gene_variant,,ENST00000390575,;IGHD6-19,downstream_gene_variant,,ENST00000390574,;IGHD1-20,downstream_gene_variant,,ENST00000450276,;IGHD4-23,upstream_gene_variant,,ENST00000437320,;IGHD3-22,upstream_gene_variant,,ENST00000390571,;IGHD5-24,upstream_gene_variant,,ENST00000390569,;AL122127.25,upstream_gene_variant,,ENST00000414005,;	11	87	73	SUCCESS
FAM179B	0	.	GRCh37	14	45521641	45521641	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	71	0	ENST00000361577.3:c.4157A>G	p.Tyr1386Cys	p.Y1386C	ENST00000361577	NM_015091.2	1386	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9681.1	4157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTATTATG	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.79)	.	tolerated(0.08)	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,missense_variant,p.Tyr1386Cys,ENST00000361577,;FAM179B,missense_variant,p.Tyr1439Cys,ENST00000361462,;FAM179B,splice_region_variant,,ENST00000382233,;FAM179B,splice_region_variant,,ENST00000557423,;	4371	71	49	SUCCESS
PYGL	5836	.	GRCh37	14	51390766	51390766	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758005615	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	126	0	ENST00000216392.7:c.581G>T	p.Arg194Leu	p.R194L	ENST00000216392	NM_002863.4	194	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS32080.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCGGGAC	NONE	byFrequency	.	hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF6,Pfam_domain:PF00343,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756	.	.	ENSP00000216392	.	5/20	.	.	.	.	.	.	.	.	rs758005615,COSM314623	5/20	PASS	ENST00000216392	Transcript	.	.	ENSG00000100504	9725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	0,1	PYGL_HUMAN	PYGL	HGNC	.	.	UPI000011136E	SNV	PYGL,missense_variant,p.Arg194Leu,ENST00000216392,;PYGL,missense_variant,p.Arg194Leu,ENST00000532462,;PYGL,missense_variant,p.Arg160Leu,ENST00000544180,;PYGL,non_coding_transcript_exon_variant,,ENST00000530336,;PYGL,upstream_gene_variant,,ENST00000553872,;	914	126	103	SUCCESS
BMP4	652	.	GRCh37	14	54418919	54418919	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs768324055	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	50	0	ENST00000245451.4:c.22C>A	p.Leu8Met	p.L8M	ENST00000245451	NM_001202.3	8	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS9715.1	22	MUTECT|MUSE	.	CATCAGCATTC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF49	.	.	ENSP00000245451	.	3/4	.	.	.	.	.	.	.	.	rs768324055	3/4	PASS	ENST00000245451	Transcript	.	.	ENSG00000125378	1071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	deleterious(0.02)	.	BMP4_HUMAN	BMP4	HGNC	U3MVU6_HUMAN,Q53XC5_HUMAN,H0YM53_HUMAN,H0YLW3_HUMAN	.	UPI000000CC31	SNV	BMP4,missense_variant,p.Leu8Met,ENST00000558984,;BMP4,missense_variant,p.Leu8Met,ENST00000417573,;BMP4,missense_variant,p.Leu8Met,ENST00000559087,;BMP4,missense_variant,p.Leu8Met,ENST00000559642,;BMP4,missense_variant,p.Leu8Met,ENST00000245451,;BMP4,intron_variant,,ENST00000559501,;BMP4,upstream_gene_variant,,ENST00000609748,;BMP4,upstream_gene_variant,,ENST00000558961,;MIR5580,upstream_gene_variant,,ENST00000580850,;BMP4,downstream_gene_variant,,ENST00000558489,;	416	50	54	SUCCESS
GALC	2581	.	GRCh37	14	88411981	88411981	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200960659	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	44	132	0	ENST00000261304.2:c.1586C>T	p.Thr529Met	p.T529M	ENST00000261304	NM_000153.3	529	aCg/aTg	0	A:0.0003	.	.	.	.	A	T/M	protein_coding	YES	CCDS9878.2	1586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGTGAAG	NONE	byFrequency|byCluster	.	Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1	.	A:0.0002	ENSP00000261304	.	14/17	.	.	.	.	.	.	.	.	rs200960659,CM970565	14/17	PASS	ENST00000261304	Transcript	.	.	ENSG00000054983	4115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	GALC_HUMAN	GALC	HGNC	.	.	UPI00001FD982	SNV	GALC,missense_variant,p.Thr506Met,ENST00000393568,;GALC,missense_variant,p.Thr473Met,ENST00000544807,;GALC,missense_variant,p.Thr503Met,ENST00000393569,;GALC,missense_variant,p.Thr529Met,ENST00000261304,;GALC,missense_variant,p.Thr318Met,ENST00000555000,;GALC,3_prime_UTR_variant,,ENST00000557316,;GALC,intron_variant,,ENST00000555179,;	1693	132	131	SUCCESS
HERC2P3	283755	.	GRCh37	15	20644207	20644207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	31	140	0	ENST00000428453.1:n.3357C>G		p.*1119*	ENST00000428453				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGTGGGT	NONE	.	.	.	.	.	.	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000436934,;HERC2P3,downstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,downstream_gene_variant,,ENST00000545640,;	3357	140	114	SUCCESS
RYR3	6263	.	GRCh37	15	33872221	33872221	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	40	157	0	ENST00000389232.4:c.1313A>G	p.Glu438Gly	p.E438G	ENST00000389232	NM_001036.3	438	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS45210.1	1313	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAAGTCC	NONE	.	.	Superfamily_domains:0048280,Pfam_domain:PF01365,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	13/104	.	.	.	.	.	.	.	.	.	13/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Glu438Gly,ENST00000389232,;RYR3,missense_variant,p.Glu438Gly,ENST00000415757,;	1383	157	125	SUCCESS
GOLGA8A	23015	.	GRCh37	15	34673744	34673744	+	synonymous_variant	Silent	SNP	C	C	T	rs763204021	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	31	272	0	ENST00000432566.2:c.1770G>A	p.Gln590=	p.Q590=	ENST00000432566		590	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS10038.1	1680	RADIA|MUTECT|MUSE	.	TTGTCCTGGGA	NONE	byFrequency	.	hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF7,Pfam_domain:PF15070	.	.	ENSP00000353755	.	24/24	.	.	.	.	.	.	.	.	rs763204021	24/24	PASS	ENST00000360553	Transcript	.	.	ENSG00000175265	31972	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GOG8A_HUMAN	GOLGA8A	HGNC	F5H2E4_HUMAN	.	UPI000019C425	SNV	GOLGA8A,synonymous_variant,p.%3D,ENST00000359187,;GOLGA8A,synonymous_variant,p.%3D,ENST00000432566,;GOLGA8A,synonymous_variant,p.%3D,ENST00000543376,;GOLGA8A,synonymous_variant,p.%3D,ENST00000360553,;MIR1233-1,downstream_gene_variant,,ENST00000408722,;GOLGA8A,non_coding_transcript_exon_variant,,ENST00000473125,;	2667	272	238	SUCCESS
GOLGA8B	440270	.	GRCh37	15	34819965	34819965	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	17	180	0	ENST00000342314.5:c.1680G>A	p.Gln560=	p.Q560=	ENST00000342314	NM_001023567.4	560	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS45211.1	1680	MUTECT|MUSE	.	TTGTCCTGGGA	NONE	.	.	hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF7,Pfam_domain:PF15070	.	.	ENSP00000267731	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000267731	Transcript	.	.	ENSG00000215252	31973	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOG8B_HUMAN	GOLGA8B	HGNC	.	.	UPI00001995F1	SNV	GOLGA8B,synonymous_variant,p.%3D,ENST00000342314,;GOLGA8B,synonymous_variant,p.%3D,ENST00000267731,;GOLGA8B,synonymous_variant,p.%3D,ENST00000438958,;GOLGA8A,intron_variant,,ENST00000543376,;MIR1233-2,downstream_gene_variant,,ENST00000408138,;GOLGA8B,non_coding_transcript_exon_variant,,ENST00000569100,;GOLGA8B,non_coding_transcript_exon_variant,,ENST00000484716,;GOLGA8B,non_coding_transcript_exon_variant,,ENST00000568555,;	2946	180	147	SUCCESS
TMEM87A	25963	.	GRCh37	15	42519078	42519078	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	47	0	ENST00000389834.4:c.1329C>T	p.Ala443=	p.A443=	ENST00000389834	NM_015497.3	443	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS32205.1	1329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGGCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF10,Pfam_domain:PF06814	.	.	ENSP00000374484	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000389834	Transcript	.	.	ENSG00000103978	24522	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM87A_HUMAN	TMEM87A	HGNC	H3BPJ4_HUMAN,H3BMU0_HUMAN,H3BM87_HUMAN	.	UPI0000073A7E	SNV	TMEM87A,synonymous_variant,p.%3D,ENST00000389834,;TMEM87A,synonymous_variant,p.%3D,ENST00000566014,;TMEM87A,synonymous_variant,p.%3D,ENST00000448392,;RP11-546B15.1,non_coding_transcript_exon_variant,,ENST00000563846,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000564329,;TMEM87A,downstream_gene_variant,,ENST00000562946,;	1594	47	35	SUCCESS
KIAA1199	0	.	GRCh37	15	81235392	81235392	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	101	0	ENST00000220244.3:c.3806T>G	p.Leu1269Arg	p.L1269R	ENST00000220244	NM_018689.1	1269	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS10315.1	3806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTGCAAG	NONE	.	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15	.	.	ENSP00000378177	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000394685	Transcript	.	.	ENSG00000103888	29213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	K1199_HUMAN	KIAA1199	HGNC	.	.	UPI00001D7799	SNV	KIAA1199,missense_variant,p.Leu1269Arg,ENST00000356249,;KIAA1199,missense_variant,p.Leu1269Arg,ENST00000220244,;KIAA1199,missense_variant,p.Leu1269Arg,ENST00000394685,;KIAA1199,downstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;KIAA1199,upstream_gene_variant,,ENST00000559966,;MESDC2,downstream_gene_variant,,ENST00000561312,;KIAA1199,downstream_gene_variant,,ENST00000495041,;	4225	101	92	SUCCESS
TICRR	90381	.	GRCh37	15	90159653	90159653	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs751853339	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	85	0	ENST00000268138.7:c.2887A>T	p.Thr963Ser	p.T963S	ENST00000268138		963	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS10352.2	2887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGACTAAG	NONE	byFrequency	.	Pfam_domain:PF15292,hmmpanther:PTHR21556	.	.	ENSP00000268138	.	16/22	.	.	.	.	.	.	.	.	rs751853339	16/22	PASS	ENST00000268138	Transcript	.	.	ENSG00000140534	28704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.331)	.	deleterious(0.02)	.	TICRR_HUMAN	TICRR	HGNC	.	.	UPI0000D61399	SNV	TICRR,missense_variant,p.Thr962Ser,ENST00000560985,;TICRR,missense_variant,p.Thr963Ser,ENST00000268138,;KIF7,intron_variant,,ENST00000558928,;	2992	85	52	SUCCESS
MLST8	64223	.	GRCh37	16	2256124	2256124	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	53	0	ENST00000397124.1:c.38T>C	p.Val13Ala	p.V13A	ENST00000397124	NM_001199174.1	13	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10462.2	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGTCATCC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19842,Gene3D:2.130.10.10,Superfamily_domains:SSF50998	.	.	ENSP00000456405	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000569417	Transcript	.	.	ENSG00000167965	24825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0)	.	LST8_HUMAN	MLST8	HGNC	H3BQ74_HUMAN,H3BN58_HUMAN	.	UPI000006D8E8	SNV	MLST8,missense_variant,p.Val32Ala,ENST00000301725,;MLST8,missense_variant,p.Val13Ala,ENST00000562479,;MLST8,missense_variant,p.Val13Ala,ENST00000569457,;MLST8,missense_variant,p.Val13Ala,ENST00000563179,;MLST8,missense_variant,p.Val13Ala,ENST00000397124,;MLST8,missense_variant,p.Val13Ala,ENST00000564088,;MLST8,missense_variant,p.Val13Ala,ENST00000301724,;MLST8,missense_variant,p.Val13Ala,ENST00000562352,;MLST8,missense_variant,p.Val13Ala,ENST00000569417,;MLST8,missense_variant,p.Val13Ala,ENST00000565250,;MLST8,missense_variant,p.Val13Ala,ENST00000382450,;BRICD5,downstream_gene_variant,,ENST00000328540,;BRICD5,downstream_gene_variant,,ENST00000566018,;BRICD5,downstream_gene_variant,,ENST00000562360,;AC009065.3,upstream_gene_variant,,ENST00000517149,;MLST8,non_coding_transcript_exon_variant,,ENST00000561651,;MLST8,non_coding_transcript_exon_variant,,ENST00000562844,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,upstream_gene_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,missense_variant,p.Val13Ala,ENST00000563107,;MLST8,missense_variant,p.Val13Ala,ENST00000567282,;MLST8,missense_variant,p.Val13Ala,ENST00000565687,;MLST8,missense_variant,p.Val13Ala,ENST00000567623,;MLST8,missense_variant,p.Val13Ala,ENST00000570224,;MLST8,missense_variant,p.Val13Ala,ENST00000566835,;MLST8,missense_variant,p.Val13Ala,ENST00000562851,;MLST8,missense_variant,p.Val13Ala,ENST00000565717,;MLST8,non_coding_transcript_exon_variant,,ENST00000566653,;MLST8,non_coding_transcript_exon_variant,,ENST00000564294,;MLST8,non_coding_transcript_exon_variant,,ENST00000568194,;MLST8,non_coding_transcript_exon_variant,,ENST00000564679,;MLST8,non_coding_transcript_exon_variant,,ENST00000567928,;MLST8,non_coding_transcript_exon_variant,,ENST00000565330,;MLST8,non_coding_transcript_exon_variant,,ENST00000565269,;MLST8,non_coding_transcript_exon_variant,,ENST00000568542,;MLST8,non_coding_transcript_exon_variant,,ENST00000563067,;BRICD5,downstream_gene_variant,,ENST00000566795,;MLST8,upstream_gene_variant,,ENST00000569848,;MLST8,upstream_gene_variant,,ENST00000562239,;MLST8,upstream_gene_variant,,ENST00000562392,;	392	53	34	SUCCESS
MYH1	4619	.	GRCh37	17	10408576	10408576	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	112	0	ENST00000226207.5:c.2339T>C	p.Met780Thr	p.M780T	ENST00000226207	NM_005963.3	780	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS11155.1	2339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGCATCTCC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000226207	.	21/40	.	.	.	.	.	.	.	.	.	21/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Met780Thr,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2434	112	108	SUCCESS
CDRT1	374286	.	GRCh37	17	15508540	15508541	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	AT	AT	.	.	.	.	.	.	.	.	.	.	.	.	.	148	123	279	0	ENST00000395906.3:c.1429_1430del	p.Ile477GlnfsTer28	p.I477Qfs*28	ENST00000395906	NM_006382.3	477	ATc/c	0	.	.	.	.	.	-	I/X	protein_coding	YES	.	2359-2360	INDELOCATOR|VARSCANI	.	CACCTGATACTTA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320	.	.	ENSP00000402644	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000455584	Transcript	.	.	ENSG00000251537	.	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-385D13.1	Clone_based_vega_gene	H0Y626_HUMAN,J3QKY5_HUMAN	.	UPI000268AF94	deletion	RP11-385D13.1,frameshift_variant,p.Ile787GlnfsTer28,ENST00000455584,;CDRT1,frameshift_variant,p.Ile301del,ENST00000261644,;CDRT1,frameshift_variant,p.Ile477GlnfsTer28,ENST00000395906,;	2403-2404	279	271	SUCCESS
FAM83G	644815	.	GRCh37	17	18874756	18874756	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	55	0	ENST00000345041.4:c.2388A>G	p.Leu796=	p.L796=	ENST00000345041		796	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS42276.1	2388	RADIA|MUTECT|MUSE	.	GCCTTTAGGTG	NONE	.	.	hmmpanther:PTHR16181:SF5,hmmpanther:PTHR16181	.	.	ENSP00000373647	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000388995	Transcript	.	.	ENSG00000188522	32554	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA83G_HUMAN	FAM83G	HGNC	.	.	UPI0000E03260	SNV	FAM83G,synonymous_variant,p.%3D,ENST00000585154,;FAM83G,synonymous_variant,p.%3D,ENST00000388995,;FAM83G,synonymous_variant,p.%3D,ENST00000345041,;SLC5A10,intron_variant,,ENST00000417251,;SLC5A10,intron_variant,,ENST00000395647,;SLC5A10,intron_variant,,ENST00000395643,;SLC5A10,intron_variant,,ENST00000395642,;SLC5A10,intron_variant,,ENST00000395645,;SLC5A10,intron_variant,,ENST00000317977,;FAM83G,downstream_gene_variant,,ENST00000399096,;	2612	55	49	SUCCESS
KRTAP1-5	83895	.	GRCh37	17	39183121	39183121	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	51	0	ENST00000361883.5:c.287G>T	p.Gly96Val	p.G96V	ENST00000361883	NM_031957.1	96	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS42321.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGCCACAG	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01500,hmmpanther:PTHR23262:SF9,hmmpanther:PTHR23262	.	.	ENSP00000355302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361883	Transcript	.	.	ENSG00000221852	16777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.46)	.	KRA15_HUMAN	KRTAP1-5	HGNC	.	.	UPI00000707CB	SNV	KRTAP1-5,missense_variant,p.Gly96Val,ENST00000361883,;KRTAP1-4,downstream_gene_variant,,ENST00000377747,;	334	51	54	SUCCESS
KRTAP1-5	83895	.	GRCh37	17	39183122	39183122	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	50	0	ENST00000361883.5:c.286G>T	p.Gly96Cys	p.G96C	ENST00000361883	NM_031957.1	96	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS42321.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCCACAGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01500,hmmpanther:PTHR23262:SF9,hmmpanther:PTHR23262	.	.	ENSP00000355302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361883	Transcript	.	.	ENSG00000221852	16777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.38)	.	KRA15_HUMAN	KRTAP1-5	HGNC	.	.	UPI00000707CB	SNV	KRTAP1-5,missense_variant,p.Gly96Cys,ENST00000361883,;KRTAP1-4,downstream_gene_variant,,ENST00000377747,;	333	50	53	SUCCESS
CRHR1	1394	.	GRCh37	17	43911988	43911988	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	21	0	ENST00000398285.3:c.1195-2A>T		p.X399_splice	ENST00000398285	NM_001145146.1	399		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45712.1	.	MUTECT|MUSE	.	CCCACAGGTCC	NONE	.	.	.	.	.	ENSP00000381333	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	HIGH	13/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,splice_acceptor_variant,,ENST00000580876,;CRHR1,splice_acceptor_variant,,ENST00000398285,;CRHR1,splice_acceptor_variant,,ENST00000293493,;CRHR1,splice_acceptor_variant,,ENST00000339069,;CRHR1,splice_acceptor_variant,,ENST00000352855,;CRHR1,splice_acceptor_variant,,ENST00000577353,;CRHR1,splice_acceptor_variant,,ENST00000314537,;CRHR1,splice_acceptor_variant,,ENST00000535778,;CRHR1,splice_acceptor_variant,,ENST00000347197,;CRHR1,splice_acceptor_variant,,ENST00000583888,;CRHR1,downstream_gene_variant,,ENST00000580955,;CRHR1,downstream_gene_variant,,ENST00000581479,;CRHR1,downstream_gene_variant,,ENST00000582766,;	.	21	18	SUCCESS
CA10	56934	.	GRCh37	17	50235089	50235089	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs767601274	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	98	0	ENST00000285273.4:c.58T>C	p.Ser20Pro	p.S20P	ENST00000285273	NM_001082533.1	20	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS32684.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGATATGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91	.	.	ENSP00000405388	.	1/9	.	.	.	.	.	.	.	.	rs767601274	1/9	PASS	ENST00000451037	Transcript	.	.	ENSG00000154975	1369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.24)	.	CAH10_HUMAN	CA10	HGNC	I3L375_HUMAN,B4DGL6_HUMAN	.	UPI000000167C	SNV	CA10,missense_variant,p.Ser20Pro,ENST00000285273,;CA10,missense_variant,p.Ser20Pro,ENST00000575181,;CA10,missense_variant,p.Ser20Pro,ENST00000451037,;CA10,missense_variant,p.Ser20Pro,ENST00000442502,;CA10,5_prime_UTR_variant,,ENST00000340813,;CA10,intron_variant,,ENST00000570565,;CA10,non_coding_transcript_exon_variant,,ENST00000573294,;CA10,missense_variant,p.Ser20Pro,ENST00000571371,;	999	98	73	SUCCESS
NLRP1	22861	.	GRCh37	17	5462324	5462325	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	114	0	ENST00000572272.1:c.1691dup	p.Leu564PhefsTer14	p.L564Ffs*14	ENST00000572272		564	ttg/ttTg	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS42246.1	1691-1692	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCCCAATGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13	.	.	ENSP00000460475	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000572272	Transcript	.	.	ENSG00000091592	14374	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NALP1_HUMAN	NLRP1	HGNC	I3L2G5_HUMAN,I3L0S2_HUMAN	.	UPI0000038309	insertion	NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000572272,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000345221,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000269280,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000354411,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000577119,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000262467,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000544378,;NLRP1,frameshift_variant,p.Leu564PhefsTer14,ENST00000571451,;	1691-1692	114	124	SUCCESS
AMZ2	51321	.	GRCh37	17	66246521	66246521	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	107	0	ENST00000359904.3:c.193G>T	p.Glu65Ter	p.E65*	ENST00000359904	NM_016627.4	65	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11674.1	193	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCTGAGGCT	NONE	.	.	hmmpanther:PTHR32205:SF5,hmmpanther:PTHR32205	.	.	ENSP00000352976	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000359904	Transcript	.	.	ENSG00000196704	28041	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMZ2_HUMAN	AMZ2	HGNC	J3QLK6_HUMAN,J3KSH1_HUMAN,J3KS38_HUMAN,J3KRD0_HUMAN	.	UPI0000366C52	SNV	AMZ2,stop_gained,p.Glu65Ter,ENST00000579724,;AMZ2,stop_gained,p.Glu65Ter,ENST00000584494,;AMZ2,stop_gained,p.Glu65Ter,ENST00000580753,;AMZ2,stop_gained,p.Glu65Ter,ENST00000359904,;AMZ2,stop_gained,p.Glu65Ter,ENST00000392720,;AMZ2,stop_gained,p.Glu65Ter,ENST00000577273,;AMZ2,stop_gained,p.Glu65Ter,ENST00000359783,;AMZ2,stop_gained,p.Glu65Ter,ENST00000580548,;AMZ2,stop_gained,p.Glu37Ter,ENST00000584837,;AMZ2,stop_gained,p.Glu65Ter,ENST00000577985,;AMZ2,stop_gained,p.Glu65Ter,ENST00000580837,;AMZ2,stop_gained,p.Glu65Ter,ENST00000577866,;RP11-147L13.2,upstream_gene_variant,,ENST00000577698,;AMZ2,non_coding_transcript_exon_variant,,ENST00000585050,;AMZ2,intron_variant,,ENST00000582430,;AMZ2,upstream_gene_variant,,ENST00000581779,;AMZ2,stop_gained,p.Glu34Ter,ENST00000584836,;AMZ2,non_coding_transcript_exon_variant,,ENST00000578175,;AMZ2,upstream_gene_variant,,ENST00000584350,;	1325	107	94	SUCCESS
ASPSCR1	79058	.	GRCh37	17	79974909	79974909	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	50	0	ENST00000306739.4:c.1568T>A	p.Val523Asp	p.V523D	ENST00000306739	NM_024083.3	523	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS58611.1	1850	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTGGTCCCCC	NONE	.	.	hmmpanther:PTHR23153:SF33,hmmpanther:PTHR23153	.	.	ENSP00000306625	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000306729	Transcript	.	.	ENSG00000169696	13825	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.192)	.	tolerated(0.55)	.	ASPC1_HUMAN	ASPSCR1	HGNC	.	.	UPI000007263D	SNV	ASPSCR1,missense_variant,p.Val130Asp,ENST00000583744,;ASPSCR1,missense_variant,p.Val523Asp,ENST00000306739,;ASPSCR1,missense_variant,p.Val471Asp,ENST00000580534,;ASPSCR1,missense_variant,p.Val352Asp,ENST00000582355,;ASPSCR1,missense_variant,p.Val617Asp,ENST00000306729,;STRA13,downstream_gene_variant,,ENST00000392359,;STRA13,downstream_gene_variant,,ENST00000580435,;STRA13,downstream_gene_variant,,ENST00000579520,;STRA13,downstream_gene_variant,,ENST00000306704,;STRA13,downstream_gene_variant,,ENST00000584347,;STRA13,downstream_gene_variant,,ENST00000584600,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000583142,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000582404,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000585140,;STRA13,downstream_gene_variant,,ENST00000583767,;STRA13,downstream_gene_variant,,ENST00000584514,;STRA13,downstream_gene_variant,,ENST00000580090,;STRA13,downstream_gene_variant,,ENST00000577379,;ASPSCR1,3_prime_UTR_variant,,ENST00000584454,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000585274,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000577733,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000583693,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000578236,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000581608,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000578361,;STRA13,downstream_gene_variant,,ENST00000585091,;	1947	50	31	SUCCESS
APCDD1	147495	.	GRCh37	18	10488026	10488026	+	synonymous_variant	Silent	SNP	C	C	A	rs780464433	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	33	0	ENST00000355285.5:c.1536C>A	p.Ile512=	p.I512=	ENST00000355285	NM_153000.4	512	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11849.1	1536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATCCGCAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2	.	.	ENSP00000347433	.	5/5	.	.	.	.	.	.	.	.	rs780464433	5/5	PASS	ENST00000355285	Transcript	.	.	ENSG00000154856	15718	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,synonymous_variant,p.%3D,ENST00000355285,;APCDD1,downstream_gene_variant,,ENST00000578882,;APCDD1,downstream_gene_variant,,ENST00000579685,;APCDD1,downstream_gene_variant,,ENST00000582723,;APCDD1,downstream_gene_variant,,ENST00000423585,;	1890	33	30	SUCCESS
POTEC	388468	.	GRCh37	18	14511960	14511960	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	368	162	665	0	ENST00000358970.5:c.1566C>T	p.Leu522=	p.L522=	ENST00000358970	NM_001137671.1	522	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45835.1	1566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAAGAGATC	NONE	.	.	hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118	.	.	ENSP00000351856	.	11/11	.	.	.	.	.	.	.	.	COSM3524334	11/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,synonymous_variant,p.%3D,ENST00000358970,;POTEC,3_prime_UTR_variant,,ENST00000511306,;	1566	666	530	SUCCESS
TCEB3C	0	.	GRCh37	18	44555325	44555325	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1599541324	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	362	12	488	1	ENST00000330682.2:c.889C>A	p.Pro297Thr	p.P297T	ENST00000330682	NM_145653.3	297	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS11931.1	889	MUTECT|MUSE	.	TTCTGGGTTTG	NONE	.	.	hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36	.	.	ENSP00000328232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330682	Transcript	.	.	ENSG00000183791	24617	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.28)	.	ELOA3_HUMAN	TCEB3C	HGNC	.	.	UPI0000140A9D	SNV	TCEB3C,missense_variant,p.Pro297Thr,ENST00000330682,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3B,downstream_gene_variant,,ENST00000332567,;TCEB3CL,upstream_gene_variant,,ENST00000451265,;	1125	489	374	SUCCESS
LMAN1	3998	.	GRCh37	18	57021788	57021788	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs139797136	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	71	0	ENST00000251047.5:c.502A>T	p.Ile168Leu	p.I168L	ENST00000251047	NM_005570.3	168	Ata/Tta	0	C:0.0005	C:0.0008	.	C:0	.	A	I/L	protein_coding	YES	CCDS11974.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTATAATTA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS51328,hmmpanther:PTHR12223:SF21,hmmpanther:PTHR12223,Gene3D:2.60.120.200,Pfam_domain:PF03388,Superfamily_domains:SSF49899	C:0	C:0	ENSP00000251047	C:0	4/13	.	.	.	.	.	.	.	.	rs139797136	4/13	PASS	ENST00000251047	Transcript	.	C:0.0002	ENSG00000074695	6631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	C:0	deleterious(0.01)	.	LMAN1_HUMAN	LMAN1	HGNC	.	.	UPI000012A0DD	SNV	LMAN1,missense_variant,p.Ile168Leu,ENST00000251047,;LMAN1,upstream_gene_variant,,ENST00000587940,;LMAN1,non_coding_transcript_exon_variant,,ENST00000587561,;	1220	71	72	SUCCESS
NOTCH3	4854	.	GRCh37	19	15280956	15280956	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1448731524	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	82	0	ENST00000263388.2:c.5140A>T	p.Met1714Leu	p.M1714L	ENST00000263388	NM_000435.2	1714	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS12326.1	5140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATCAGGC	NONE	.	.	PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47	.	.	ENSP00000263388	.	28/33	.	.	.	.	.	.	.	.	.	28/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.43)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Met1714Leu,ENST00000263388,;NOTCH3,upstream_gene_variant,,ENST00000597756,;NOTCH3,missense_variant,p.Met3Leu,ENST00000595514,;	5216	82	68	SUCCESS
SIN3B	23309	.	GRCh37	19	16965104	16965104	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	28	0	ENST00000379803.1:c.1058+32G>A		p.*353*	ENST00000379803	NM_015260.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32946.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGGGGGTT	NONE	.	.	.	.	.	ENSP00000369131	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379803	Transcript	.	.	ENSG00000127511	19354	.	.	MODIFIER	8/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIN3B_HUMAN	SIN3B	HGNC	.	.	UPI0000425EFA	SNV	SIN3B,3_prime_UTR_variant,,ENST00000596802,;SIN3B,intron_variant,,ENST00000248054,;SIN3B,intron_variant,,ENST00000596638,;SIN3B,intron_variant,,ENST00000379803,;	.	28	29	SUCCESS
KIAA1683	0	.	GRCh37	19	18375495	18375495	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	44	0	ENST00000392413.4:c.2855G>T	p.Arg952Leu	p.R952L	ENST00000392413	NM_001145304.1	952	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS46017.1	2855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCGGGAC	NONE	.	.	hmmpanther:PTHR22590:SF1,hmmpanther:PTHR22590	.	.	ENSP00000376213	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000392413	Transcript	.	.	ENSG00000130518	29350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	deleterious(0.03)	.	K1683_HUMAN	KIAA1683	HGNC	U3KQN7_HUMAN,U3KQG6_HUMAN	.	UPI000194EC26	SNV	KIAA1683,missense_variant,p.Arg952Leu,ENST00000392413,;KIAA1683,intron_variant,,ENST00000600359,;KIAA1683,intron_variant,,ENST00000600328,;KIAA1683,downstream_gene_variant,,ENST00000593659,;KIAA1683,downstream_gene_variant,,ENST00000608950,;KIAA1683,downstream_gene_variant,,ENST00000595654,;KIAA1683,downstream_gene_variant,,ENST00000599528,;KIAA1683,upstream_gene_variant,,ENST00000599638,;	3071	44	54	SUCCESS
HAPLN4	404037	.	GRCh37	19	19369444	19369444	+	synonymous_variant	Silent	SNP	C	C	T	rs752756787	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	38	0	ENST00000291481.7:c.705G>A	p.Gly235=	p.G235=	ENST00000291481	NM_023002.2	235	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12398.1	705	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCCCCCC	BUFFER|p.S238S|c.714T>C|5	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF11,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000291481	.	4/5	.	.	.	.	.	.	.	.	rs752756787,COSM1391794	4/5	PASS	ENST00000291481	Transcript	.	.	ENSG00000187664	31357	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	HPLN4_HUMAN	HAPLN4	HGNC	.	.	UPI00000496C7	SNV	HAPLN4,synonymous_variant,p.%3D,ENST00000291481,;AC138430.4,non_coding_transcript_exon_variant,,ENST00000586064,;HAPLN4,downstream_gene_variant,,ENST00000592862,;	769	38	42	SUCCESS
ZNF737	100129842	.	GRCh37	19	20736517	20736517	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	150	415	0	ENST00000427401.4:c.128T>C	p.Leu43Pro	p.L43P	ENST00000427401	NM_001159293.1	43	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS54238.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAAGGAAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF93,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000395733	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000427401	Transcript	.	.	ENSG00000237440	32468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	ZN737_HUMAN	ZNF737	HGNC	M0R1D1_HUMAN	.	UPI0000198506	SNV	ZNF737,missense_variant,p.Leu43Pro,ENST00000596797,;ZNF737,missense_variant,p.Leu43Pro,ENST00000427401,;ZNF737,intron_variant,,ENST00000594419,;CTC-513N18.7,downstream_gene_variant,,ENST00000595094,;ZNF737,splice_region_variant,,ENST00000597940,;	223	415	372	SUCCESS
NAPA	8775	.	GRCh37	19	48018261	48018261	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1052323825	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	41	0	ENST00000263354.3:c.-64C>T		p.*22*	ENST00000263354	NM_003827.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12702.1	.	MUTECT|MUSE	.	CGGCCGGGCCG	NONE	.	.	.	.	.	ENSP00000263354	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000263354	Transcript	.	.	ENSG00000105402	7641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNAA_HUMAN	NAPA	HGNC	M0R213_HUMAN,M0R058_HUMAN,M0R027_HUMAN	.	UPI00000012C7	SNV	NAPA,5_prime_UTR_variant,,ENST00000595227,;NAPA,5_prime_UTR_variant,,ENST00000593761,;NAPA,5_prime_UTR_variant,,ENST00000263354,;NAPA,upstream_gene_variant,,ENST00000598615,;NAPA,upstream_gene_variant,,ENST00000597118,;NAPA,non_coding_transcript_exon_variant,,ENST00000597160,;NAPA,non_coding_transcript_exon_variant,,ENST00000595826,;NAPA,non_coding_transcript_exon_variant,,ENST00000593785,;NAPA,5_prime_UTR_variant,,ENST00000597274,;NAPA,5_prime_UTR_variant,,ENST00000594001,;NAPA,5_prime_UTR_variant,,ENST00000601208,;NAPA,non_coding_transcript_exon_variant,,ENST00000602082,;NAPA,non_coding_transcript_exon_variant,,ENST00000594740,;NAPA,upstream_gene_variant,,ENST00000602174,;NAPA,upstream_gene_variant,,ENST00000594288,;	237	41	28	SUCCESS
CGB8	94115	.	GRCh37	19	49552122	49552122	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	62	0	ENST00000448456.3:c.-126T>A		p.*42*	ENST00000448456	NM_033183.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12753.1	.	RADIA|MUTECT|MUSE	.	GAGGTAGACAA	NONE	.	.	.	.	.	ENSP00000403649	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000448456	Transcript	.	.	ENSG00000213030	16453	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB8	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB8,5_prime_UTR_variant,,ENST00000448456,;CGB8,5_prime_UTR_variant,,ENST00000355414,;CGB1,upstream_gene_variant,,ENST00000391869,;CGB5,downstream_gene_variant,,ENST00000301408,;CTB-60B18.15,downstream_gene_variant,,ENST00000596318,;	242	62	41	SUCCESS
SIGLEC9	27180	.	GRCh37	19	51633221	51633221	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs377533277	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	26	68	0	ENST00000250360.3:c.1277T>C	p.Val426Ala	p.V426A	ENST00000250360	NM_014441.2	426	gTg/gCg	0	A:0.0002	.	.	.	.	C	.	protein_coding	YES	CCDS56100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGTGGGGG	NONE	byCluster	.	.	.	A:0	ENSP00000413861	.	.	.	.	.	.	.	.	.	.	rs377533277	.	PASS	ENST00000440804	Transcript	.	.	ENSG00000129450	10878	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SIGLEC9	HGNC	.	.	UPI00017A75A8	SNV	SIGLEC9,missense_variant,p.Val426Ala,ENST00000250360,;SIGLEC9,intron_variant,,ENST00000440804,;SIGLEC9,downstream_gene_variant,,ENST00000599948,;	.	68	122	SUCCESS
ZNF841	284371	.	GRCh37	19	52570807	52570807	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	234	34	177	0	ENST00000426391.2:c.-21G>A		p.*7*	ENST00000426391		110		0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS46161.1	328	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTGTGT	NONE	.	.	hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated(0.47)	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,missense_variant,p.Gly6Arg,ENST00000601738,;ZNF841,missense_variant,p.Gly110Arg,ENST00000389534,;ZNF841,missense_variant,p.Gly110Arg,ENST00000594295,;ZNF841,5_prime_UTR_variant,,ENST00000426391,;ZNF841,upstream_gene_variant,,ENST00000359973,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,non_coding_transcript_exon_variant,,ENST00000595599,;	788	177	269	SUCCESS
ZNF880	400713	.	GRCh37	19	52877766	52877766	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	44	50	0	ENST00000422689.2:c.268+86G>T		p.*90*	ENST00000422689	NM_001145434.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46164.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTAGAGTGG	NONE	.	.	.	.	.	ENSP00000406318	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,stop_gained,p.Glu89Ter,ENST00000344085,;ZNF880,stop_lost,p.Ter118TyrextTer13,ENST00000597976,;ZNF880,intron_variant,,ENST00000422689,;ZNF880,intron_variant,,ENST00000600321,;ZNF880,intron_variant,,ENST00000424032,;ZNF880,downstream_gene_variant,,ENST00000595099,;	.	50	75	SUCCESS
ZNF845	91664	.	GRCh37	19	53854549	53854549	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1157909728	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	34	163	0	ENST00000458035.1:c.621A>T	p.Glu207Asp	p.E207D	ENST00000458035	NM_138374.1	207	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS46170.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAAGTACA	NONE	.	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.09)	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,missense_variant,p.Glu207Asp,ENST00000595091,;ZNF845,missense_variant,p.Glu207Asp,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	738	163	188	SUCCESS
ZNF845	91664	.	GRCh37	19	53856524	53856524	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	36	80	0	ENST00000458035.1:c.2596A>T	p.Lys866Ter	p.K866*	ENST00000458035	NM_138374.1	866	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS46170.1	2596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAAGGTT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50157	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,stop_gained,p.Lys866Ter,ENST00000595091,;ZNF845,stop_gained,p.Lys866Ter,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	2713	80	169	SUCCESS
ZNF813	126017	.	GRCh37	19	53995183	53995183	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	32	120	0	ENST00000396403.4:c.1697T>A	p.Leu566His	p.L566H	ENST00000396403	NM_001004301.3	566	cTt/cAt	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS46172.1	1697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTTGCAC	NONE	.	.	PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379684	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396403	Transcript	.	.	ENSG00000198346	33257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.825)	.	deleterious(0)	.	ZN813_HUMAN	ZNF813	HGNC	C9JZ01_HUMAN	.	UPI000040C511	SNV	ZNF813,missense_variant,p.Leu566His,ENST00000396403,;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	1825	120	161	SUCCESS
NLRP12	91662	.	GRCh37	19	54301639	54301639	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146368839	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	46	72	0	ENST00000324134.6:c.2785G>A	p.Ala929Thr	p.A929T	ENST00000324134	NM_144687.3	929	Gcc/Acc	0	T:0	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS12864.1	2785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCGGCAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	T:0.003	T:0.0001	ENSP00000319377	T:0.001	8/10	.	.	.	.	.	.	.	.	rs146368839	8/10	PASS	ENST00000324134	Transcript	1	T:0.0008	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	T:0	deleterious(0.03)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.Ala929Thr,ENST00000535162,;NLRP12,missense_variant,p.Ala930Thr,ENST00000391773,;NLRP12,missense_variant,p.Ala929Thr,ENST00000324134,;NLRP12,missense_variant,p.Ala930Thr,ENST00000345770,;NLRP12,intron_variant,,ENST00000391775,;NLRP12,intron_variant,,ENST00000354278,;NLRP12,intron_variant,,ENST00000391772,;NLRP12,intron_variant,,ENST00000351894,;NLRP12,intron_variant,,ENST00000492915,;	2954	72	110	SUCCESS
KIR2DL3	3804	.	GRCh37	19	55263136	55263136	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758587869	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	19	0	ENST00000342376.3:c.751T>A	p.Ser251Thr	p.S251T	ENST00000342376	NM_015868.2	251	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS33107.1	751	RADIA|MUTECT|MUSE	.	GGACCTCAGTG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000342215	.	6/8	.	.	.	.	.	.	.	.	rs758587869	6/8	PASS	ENST00000342376	Transcript	.	.	ENSG00000243772	6331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.977)	.	deleterious(0.05)	.	KI2L3_HUMAN	KIR2DL3	HGNC	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN	.	UPI000012DB1C	SNV	KIR2DL3,missense_variant,p.Ser251Thr,ENST00000342376,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,;	782	19	12	SUCCESS
NLRP8	126205	.	GRCh37	19	56485050	56485050	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	70	0	ENST00000291971.3:c.2567G>T	p.Cys856Phe	p.C856F	ENST00000291971	NM_176811.2	856	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS12937.1	2567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTGTGAAA	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11	.	.	ENSP00000291971	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000291971	Transcript	.	.	ENSG00000179709	22940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	NALP8_HUMAN	NLRP8	HGNC	.	.	UPI00001BB3C9	SNV	NLRP8,missense_variant,p.Cys856Phe,ENST00000291971,;NLRP8,intron_variant,,ENST00000590542,;	2638	71	103	SUCCESS
ZNF417	147687	.	GRCh37	19	58419943	58419943	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs917372147	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	262	59	166	0	ENST00000312026.5:c.1703G>A	p.Ser568Asn	p.S568N	ENST00000312026	NM_152475.2	568	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS12965.1	1703	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAACTCTGA	NONE	.	.	SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	.	.	ENSP00000311319	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312026	Transcript	.	.	ENSG00000173480	20646	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.101)	.	deleterious(0)	.	ZN417_HUMAN	ZNF417	HGNC	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN,B4DEU1_HUMAN	.	UPI000013F249	SNV	ZNF417,missense_variant,p.Ser567Asn,ENST00000595559,;ZNF417,missense_variant,p.Ser369Asn,ENST00000536263,;ZNF417,missense_variant,p.Ser568Asn,ENST00000312026,;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000598629,;ZNF417,downstream_gene_variant,,ENST00000599251,;ZNF417,downstream_gene_variant,,ENST00000598526,;ZNF417,downstream_gene_variant,,ENST00000597515,;CTD-2583A14.9,intron_variant,,ENST00000602124,;	1868	166	321	SUCCESS
MLLT1	4298	.	GRCh37	19	6226990	6226990	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	119	0	ENST00000252674.7:c.544A>T	p.Lys182Ter	p.K182*	ENST00000252674	NM_005934.3	182	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS12160.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTTGGAGC	NONE	.	.	hmmpanther:PTHR23195:SF14,hmmpanther:PTHR23195	.	.	ENSP00000252674	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000252674	Transcript	.	.	ENSG00000130382	7134	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENL_HUMAN	MLLT1	HGNC	.	.	UPI000006F7B3	SNV	MLLT1,stop_gained,p.Lys182Ter,ENST00000252674,;	708	119	100	SUCCESS
FBN3	84467	.	GRCh37	19	8167618	8167618	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	55	1	ENST00000270509.2:c.5079T>C	p.Thr1693=	p.T1693=	ENST00000270509	NM_032447.3	1693	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12196.1	5079	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGAGTGGG	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000470498	.	40/64	.	.	.	.	.	.	.	.	.	40/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,synonymous_variant,p.%3D,ENST00000600128,;FBN3,synonymous_variant,p.%3D,ENST00000601739,;FBN3,synonymous_variant,p.%3D,ENST00000270509,;FBN3,upstream_gene_variant,,ENST00000602121,;	5494	56	47	SUCCESS
MUC16	94025	.	GRCh37	19	9072822	9072822	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs753313111	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	85	275	0	ENST00000397910.4:c.14624C>A	p.Ser4875Ter	p.S4875*	ENST00000397910	NM_024690.2	4875	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS54212.1	14624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTGATCTG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs753313111	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Ser4875Ter,ENST00000397910,;	14828	275	248	SUCCESS
MUC16	94025	.	GRCh37	19	9085379	9085379	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs935083537	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	86	0	ENST00000397910.4:c.6436C>T	p.Leu2146Phe	p.L2146F	ENST00000397910	NM_024690.2	2146	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS54212.1	6436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGAGGGA	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	COSM715180,COSM715179	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	.	1,1	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu2146Phe,ENST00000397910,;	6640	86	78	SUCCESS
COL11A1	1301	.	GRCh37	1	103428289	103428289	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	53	180	0	ENST00000370096.3:c.2944G>A	p.Gly982Arg	p.G982R	ENST00000370096	NM_001854.3	982	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS778.1	2944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCTATTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	39/67	.	.	.	.	.	.	.	.	.	39/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly866Arg,ENST00000512756,;COL11A1,missense_variant,p.Gly943Arg,ENST00000353414,;COL11A1,missense_variant,p.Gly982Arg,ENST00000370096,;COL11A1,missense_variant,p.Gly994Arg,ENST00000358392,;COL11A1,upstream_gene_variant,,ENST00000465209,;	3257	180	176	SUCCESS
MOV10	4343	.	GRCh37	1	113231596	113231596	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	30	94	0	ENST00000357443.2:c.177T>C	p.Tyr59=	p.Y59=	ENST00000357443		59	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS853.1	177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTATGGAAT	NONE	.	.	hmmpanther:PTHR10887:SF326,hmmpanther:PTHR10887	.	.	ENSP00000399797	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000413052	Transcript	.	.	ENSG00000155363	7200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOV10_HUMAN	MOV10	HGNC	Q5JR04_HUMAN,B3KQ43_HUMAN	.	UPI000012FA84	SNV	MOV10,synonymous_variant,p.%3D,ENST00000369644,;MOV10,synonymous_variant,p.%3D,ENST00000357443,;MOV10,synonymous_variant,p.%3D,ENST00000369645,;MOV10,synonymous_variant,p.%3D,ENST00000413052,;MOV10,downstream_gene_variant,,ENST00000544796,;RP11-426L16.3,downstream_gene_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000475429,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,upstream_gene_variant,,ENST00000479858,;MOV10,downstream_gene_variant,,ENST00000465579,;	567	94	92	SUCCESS
SEC22B	9554	.	GRCh37	1	145109584	145109584	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs782643996	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	397	36	323	0	ENST00000453618.1:n.573G>A		p.*191*	ENST00000453618				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	AAGACGTTGGC	NONE	byFrequency	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	rs782643996	3/5	PASS	ENST00000453618	Transcript	.	.	ENSG00000223380	10700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SEC22B	HGNC	.	.	.	SNV	SEC22B,non_coding_transcript_exon_variant,,ENST00000453618,;	573	323	433	SUCCESS
RP11-353N4.5	0	.	GRCh37	1	149649099	149649099	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	25	126	0	ENST00000608683.1:n.514T>A		p.*172*	ENST00000608683				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUSE|VARSCANS	.	CCAGTAGAAAA	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000608683	Transcript	.	.	ENSG00000234232	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-353N4.5	Clone_based_vega_gene	.	.	.	SNV	RP11-353N4.5,non_coding_transcript_exon_variant,,ENST00000608683,;RP11-353N4.2,non_coding_transcript_exon_variant,,ENST00000446265,;	514	126	167	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150531864	150531864	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	15	66	0	ENST00000271643.4:c.2865C>G	p.His955Gln	p.H955Q	ENST00000271643	NM_019032.4	955	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS955.1	2865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCACCTCCC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000271643	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,missense_variant,p.His955Gln,ENST00000271643,;ADAMTSL4,missense_variant,p.His955Gln,ENST00000369038,;ADAMTSL4,missense_variant,p.His978Gln,ENST00000369039,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;	3101	66	83	SUCCESS
SCNM1	79005	.	GRCh37	1	151139457	151139457	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs587766695	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	56	0	ENST00000368905.4:c.170C>T	p.Ala57Val	p.A57V	ENST00000368905	NM_024041.3	57	gCc/gTc	0	.	T:0,T:0	.	T:0,T:0	.	T	A/V	protein_coding	YES	CCDS987.1	170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCCATGC	NONE	by1000G	.	hmmpanther:PTHR32297,hmmpanther:PTHR32297:SF1	T:0,T:0	.	ENSP00000357901	T:0,T:0	3/7	.	.	.	.	.	.	.	.	rs587766695,rs774692582	3/7	PASS	ENST00000368905	Transcript	.	T:0.0002	ENSG00000163156	23136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	T:0.001,T:0.001	deleterious(0.02)	.	SCNM1_HUMAN	SCNM1	HGNC	.	.	UPI000006ED0E	SNV	SCNM1,missense_variant,p.Ala22Val,ENST00000602841,;SCNM1,missense_variant,p.Ala57Val,ENST00000368905,;SCNM1,missense_variant,p.Ala22Val,ENST00000368902,;LYSMD1,upstream_gene_variant,,ENST00000440902,;LYSMD1,upstream_gene_variant,,ENST00000368908,;TMOD4,downstream_gene_variant,,ENST00000295314,;TMOD4,downstream_gene_variant,,ENST00000466891,;TMOD4,downstream_gene_variant,,ENST00000416280,;SCNM1,non_coding_transcript_exon_variant,,ENST00000461862,;SCNM1,non_coding_transcript_exon_variant,,ENST00000497147,;TMOD4,downstream_gene_variant,,ENST00000488488,;SCNM1,downstream_gene_variant,,ENST00000471039,;SCNM1,upstream_gene_variant,,ENST00000459799,;VPS72,downstream_gene_variant,,ENST00000491094,;TMOD4,downstream_gene_variant,,ENST00000463543,;	281	56	68	SUCCESS
HRNR	388697	.	GRCh37	1	152187705	152187705	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779832642	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	387	26	327	0	ENST00000368801.2:c.6400G>A	p.Gly2134Arg	p.G2134R	ENST00000368801	NM_001009931.2	2134	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS30859.1	6400	MUTECT|MUSE	.	TTGTCCGTAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	rs779832642	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Gly2134Arg,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6476	327	413	SUCCESS
LCE5A	254910	.	GRCh37	1	152484038	152484038	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751913498	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	84	0	ENST00000334269.2:c.28T>C	p.Cys10Arg	p.C10R	ENST00000334269	NM_178438.4	10	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS1011.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGTGCCAG	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00021,hmmpanther:PTHR23263:SF31,hmmpanther:PTHR23263	.	.	ENSP00000333952	.	2/2	.	.	.	.	.	.	.	.	rs751913498	2/2	PASS	ENST00000334269	Transcript	.	.	ENSG00000186207	16614	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.2)	.	LCE5A_HUMAN	LCE5A	HGNC	.	.	UPI00001615D7	SNV	LCE5A,missense_variant,p.Cys10Arg,ENST00000334269,;CRCT1,upstream_gene_variant,,ENST00000368790,;	204	84	97	SUCCESS
OR6K3	391114	.	GRCh37	1	158687493	158687493	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs555343498	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	81	0	ENST00000368146.1:c.461C>T	p.Pro154Leu	p.P154L	ENST00000368146		154	cCc/cTc	0	.	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS30903.2	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGGGGGTC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF35,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	A:0	.	ENSP00000357127	A:0	1/1	.	.	.	.	.	.	.	.	rs555343498,COSM1499075	1/1	common_in_exac	ENST00000368145	Transcript	.	A:0.0018	ENSG00000203757	15030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.111)	A:0.0092	tolerated(0.06)	0,1	OR6K3_HUMAN	OR6K3	HGNC	.	.	UPI0000061E5F	SNV	OR6K3,missense_variant,p.Pro154Leu,ENST00000368146,;OR6K3,missense_variant,p.Pro138Leu,ENST00000368145,;	413	81	122	SUCCESS
APCS	325	.	GRCh37	1	159558103	159558103	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs771351516	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	49	0	ENST00000255040.2:c.277T>C	p.Tyr93His	p.Y93H	ENST00000255040	NM_001639.3	93	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS1186.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTATACATT	NONE	.	.	hmmpanther:PTHR19277:SF99,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899	.	.	ENSP00000255040	.	2/2	.	.	.	.	.	.	.	.	rs771351516	2/2	PASS	ENST00000255040	Transcript	.	.	ENSG00000132703	584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	tolerated(0.33)	.	SAMP_HUMAN	APCS	HGNC	.	.	UPI0000135533	SNV	APCS,missense_variant,p.Tyr93His,ENST00000255040,;	374	49	68	SUCCESS
DNM3	26052	.	GRCh37	1	172017769	172017769	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	95	180	0	ENST00000355305.5:c.1214C>A	p.Pro405Gln	p.P405Q	ENST00000355305		405	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS53431.1	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCCAGACA	NONE	.	.	hmmpanther:PTHR11566:SF54,hmmpanther:PTHR11566,Pfam_domain:PF01031	.	.	ENSP00000350876	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Pro405Gln,ENST00000367731,;DNM3,missense_variant,p.Pro405Gln,ENST00000355305,;DNM3,missense_variant,p.Pro405Gln,ENST00000358155,;DNM3,missense_variant,p.Pro405Gln,ENST00000367733,;DNM3,missense_variant,p.Pro295Gln,ENST00000523513,;DNM3,missense_variant,p.Pro405Gln,ENST00000520906,;	1390	180	216	SUCCESS
PRSS38	339501	.	GRCh37	1	228004984	228004984	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	66	0	ENST00000366757.3:c.386G>T	p.Trp129Leu	p.W129L	ENST00000366757	NM_183062.2	129	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS1563.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGGTATG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24266:SF4,hmmpanther:PTHR24266,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000355719	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000366757	Transcript	.	.	ENSG00000185888	29625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	tolerated(0.11)	.	PRS38_HUMAN	PRSS38	HGNC	.	.	UPI00001BBB34	SNV	PRSS38,missense_variant,p.Trp129Leu,ENST00000366757,;	410	66	78	SUCCESS
OBSCN	84033	.	GRCh37	1	228481978	228481978	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	34	136	0	ENST00000422127.1:c.11257A>G	p.Arg3753Gly	p.R3753G	ENST00000422127	NM_001098623.2	3753	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS59204.1	12544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCAGAGAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	47/116	.	.	.	.	.	.	.	.	.	47/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Arg872Gly,ENST00000366707,;OBSCN,missense_variant,p.Arg872Gly,ENST00000366709,;OBSCN,missense_variant,p.Arg1029Gly,ENST00000483539,;OBSCN,missense_variant,p.Arg3753Gly,ENST00000284548,;OBSCN,missense_variant,p.Arg2600Gly,ENST00000359599,;OBSCN,missense_variant,p.Arg4182Gly,ENST00000570156,;OBSCN,missense_variant,p.Arg3753Gly,ENST00000422127,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,non_coding_transcript_exon_variant,,ENST00000494839,;	12618	136	121	SUCCESS
PTPRU	10076	.	GRCh37	1	29609329	29609329	+	synonymous_variant	Silent	SNP	G	G	C	rs142462225	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	56	0	ENST00000345512.3:c.2010G>C	p.Ala670=	p.A670=	ENST00000345512	NM_005704.4	670	gcG/gcC	0	A:0.0002	A:0	.	A:0	.	C	A	protein_coding	YES	CCDS334.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGCCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF207	A:0	A:0	ENSP00000334941	A:0	12/31	.	.	.	.	.	.	.	.	rs142462225	12/31	PASS	ENST00000345512	Transcript	.	A:0.0002	ENSG00000060656	9683	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	PTPRU_HUMAN	PTPRU	HGNC	B3KT29_HUMAN	.	UPI000013C57E	SNV	PTPRU,synonymous_variant,p.%3D,ENST00000373779,;PTPRU,synonymous_variant,p.%3D,ENST00000428026,;PTPRU,synonymous_variant,p.%3D,ENST00000460170,;PTPRU,synonymous_variant,p.%3D,ENST00000323874,;PTPRU,synonymous_variant,p.%3D,ENST00000356870,;PTPRU,synonymous_variant,p.%3D,ENST00000345512,;PTPRU,non_coding_transcript_exon_variant,,ENST00000415600,;PTPRU,upstream_gene_variant,,ENST00000531385,;	2139	56	55	SUCCESS
STK40	83931	.	GRCh37	1	36809505	36809505	+	synonymous_variant	Silent	SNP	G	G	A	rs575567942	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	85	0	ENST00000373129.3:c.960C>T	p.Ala320=	p.A320=	ENST00000373129	NM_032017.1	320	gcC/gcT	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	CCDS407.1	960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGCCAG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF1,PROSITE_profiles:PS50011	A:0	.	ENSP00000362221	A:0	10/12	.	.	.	.	.	.	.	.	rs575567942	10/12	common_in_exac	ENST00000373129	Transcript	.	A:0.0014	ENSG00000196182	21373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0072	.	.	STK40_HUMAN	STK40	HGNC	.	.	UPI0000073E73	SNV	STK40,synonymous_variant,p.%3D,ENST00000373132,;STK40,synonymous_variant,p.%3D,ENST00000373129,;STK40,synonymous_variant,p.%3D,ENST00000373130,;STK40,synonymous_variant,p.%3D,ENST00000359297,;	1367	85	82	SUCCESS
ZMPSTE24	10269	.	GRCh37	1	40735691	40735691	+	synonymous_variant	Silent	SNP	G	G	T	rs757212279	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	53	194	0	ENST00000372759.3:c.519G>T	p.Val173=	p.V173=	ENST00000372759	NM_005857.4	173	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS449.1	519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTGACTCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10120,hmmpanther:PTHR10120:SF24	.	.	ENSP00000361845	.	5/10	.	.	.	.	.	.	.	.	rs757212279	5/10	PASS	ENST00000372759	Transcript	.	.	ENSG00000084073	12877	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FACE1_HUMAN	ZMPSTE24	HGNC	B3KNM6_HUMAN	.	UPI000012A4C5	SNV	ZMPSTE24,synonymous_variant,p.%3D,ENST00000372759,;ZMPSTE24,downstream_gene_variant,,ENST00000472583,;	684	194	197	SUCCESS
GPBP1L1	60313	.	GRCh37	1	46099924	46099924	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	48	0	ENST00000290795.3:c.745-16C>A		p.*249*	ENST00000290795				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS528.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGAACAA	NONE	.	.	.	.	.	ENSP00000347224	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355105	Transcript	.	.	ENSG00000159592	28843	.	.	MODIFIER	8/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPBL1_HUMAN	GPBP1L1	HGNC	.	.	UPI0000072AA4	SNV	GPBP1L1,intron_variant,,ENST00000355105,;GPBP1L1,intron_variant,,ENST00000290795,;GPBP1L1,non_coding_transcript_exon_variant,,ENST00000479235,;GPBP1L1,upstream_gene_variant,,ENST00000487436,;GPBP1L1,upstream_gene_variant,,ENST00000467032,;GPBP1L1,upstream_gene_variant,,ENST00000468724,;	.	48	27	SUCCESS
MCOLN2	255231	.	GRCh37	1	85403450	85403450	+	synonymous_variant	Silent	SNP	T	T	G	rs761683537	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	78	0	ENST00000370608.3:c.1323A>C	p.Pro441=	p.P441=	ENST00000370608	NM_153259.2	441	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS30762.1	1323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTATGGTCC	NONE	.	.	Pfam_domain:PF08016,hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF4,Transmembrane_helices:TMhelix	.	.	ENSP00000359640	.	11/14	.	.	.	.	.	.	.	.	rs761683537	11/14	PASS	ENST00000370608	Transcript	.	.	ENSG00000153898	13357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCLN2_HUMAN	MCOLN2	HGNC	G5EA24_HUMAN	.	UPI00001D7674	SNV	MCOLN2,synonymous_variant,p.%3D,ENST00000370608,;MCOLN2,synonymous_variant,p.%3D,ENST00000284027,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531325,;MCOLN2,3_prime_UTR_variant,,ENST00000463065,;	1391	78	72	SUCCESS
ZBP1	81030	.	GRCh37	20	56179629	56179629	+	stop_retained_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	44	0	ENST00000371173.3:c.1290G>A	p.Ter430=	p.*430=	ENST00000371173	NM_001160417.1	430	taG/taA	0	.	.	.	.	.	T	*	protein_coding	YES	CCDS13461.1	1290	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCACTAAAT	NONE	.	.	.	.	.	ENSP00000360215	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371173	Transcript	.	.	ENSG00000124256	16176	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZBP1_HUMAN	ZBP1	HGNC	.	.	UPI000013CB5B	SNV	ZBP1,stop_retained_variant,p.%3D,ENST00000340462,;ZBP1,stop_retained_variant,p.%3D,ENST00000395822,;ZBP1,stop_retained_variant,p.%3D,ENST00000371173,;ZBP1,downstream_gene_variant,,ENST00000343535,;ZBP1,downstream_gene_variant,,ENST00000453793,;RP4-718J7.4,upstream_gene_variant,,ENST00000424850,;ZBP1,non_coding_transcript_exon_variant,,ENST00000461547,;	1468	44	45	SUCCESS
PPDPF	79144	.	GRCh37	20	62153144	62153144	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	46	0	ENST00000370179.3:c.257G>A	p.Ser86Asn	p.S86N	ENST00000370179	NM_024299.2	86	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS13523.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCATGA	NONE	.	.	hmmpanther:PTHR14572:SF0,hmmpanther:PTHR14572,Pfam_domain:PF15060	.	.	ENSP00000359198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370179	Transcript	.	.	ENSG00000125534	16142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.18)	.	PPDPF_HUMAN	PPDPF	HGNC	.	.	UPI000003BBD7	SNV	PPDPF,missense_variant,p.Ser112Asn,ENST00000370177,;PPDPF,missense_variant,p.Ser86Asn,ENST00000370179,;PPDPF,non_coding_transcript_exon_variant,,ENST00000473620,;PPDPF,downstream_gene_variant,,ENST00000464438,;	453	46	48	SUCCESS
TPTE	7179	.	GRCh37	21	10942966	10942966	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	447	93	657	0	ENST00000361285.4:c.621T>A	p.His207Gln	p.H207Q	ENST00000361285	NM_199261.2	207	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS13560.2	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGATGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12305,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000355208	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	tolerated(0.19)	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.His207Gln,ENST00000361285,;TPTE,missense_variant,p.His169Gln,ENST00000342420,;TPTE,missense_variant,p.His189Gln,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	951	657	540	SUCCESS
GABPA	2551	.	GRCh37	21	27107190	27107190	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	19	0	ENST00000354828.3:c.-218G>A		p.*73*	ENST00000354828	NM_001197297.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46637.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAGCCTCC	NONE	.	.	.	.	.	ENSP00000389649	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000457143	Transcript	.	.	ENSG00000154723	847	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP5J_HUMAN	ATP5J	HGNC	Q6IB54_HUMAN	.	UPI0000206CD4	SNV	ATP5J,5_prime_UTR_variant,,ENST00000284971,;GABPA,5_prime_UTR_variant,,ENST00000354828,;ATP5J,5_prime_UTR_variant,,ENST00000400094,;ATP5J,intron_variant,,ENST00000457143,;ATP5J,intron_variant,,ENST00000400093,;ATP5J,intron_variant,,ENST00000400090,;ATP5J,intron_variant,,ENST00000400099,;ATP5J,intron_variant,,ENST00000400087,;GABPA,upstream_gene_variant,,ENST00000400075,;GABPA,upstream_gene_variant,,ENST00000487266,;ATP5J,non_coding_transcript_exon_variant,,ENST00000486002,;	.	19	20	SUCCESS
MED15	51586	.	GRCh37	22	20918837	20918837	+	synonymous_variant	Silent	SNP	G	G	A	rs1236738125	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	42	1	ENST00000263205.7:c.552G>A	p.Gln184=	p.Q184=	ENST00000263205	NM_001003891.1	184	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS33602.1	552	MUTECT|MUSE	.	CAGCAGCAACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31804,Pfam_domain:PF09606	.	.	ENSP00000263205	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000263205	Transcript	.	.	ENSG00000099917	14248	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MED15_HUMAN	MED15	HGNC	Q69YK5_HUMAN,C9JZV5_HUMAN,C9JM58_HUMAN,C9JGN2_HUMAN,C9J1I1_HUMAN,B4DM43_HUMAN,B3KWF1_HUMAN	.	UPI00001313C4	SNV	MED15,synonymous_variant,p.%3D,ENST00000432052,;MED15,synonymous_variant,p.%3D,ENST00000424287,;MED15,synonymous_variant,p.%3D,ENST00000263205,;MED15,synonymous_variant,p.%3D,ENST00000292733,;MED15,synonymous_variant,p.%3D,ENST00000406969,;MED15,synonymous_variant,p.%3D,ENST00000382974,;MED15,synonymous_variant,p.%3D,ENST00000428629,;MED15,synonymous_variant,p.%3D,ENST00000425759,;MED15,synonymous_variant,p.%3D,ENST00000423862,;MED15,synonymous_variant,p.%3D,ENST00000541476,;MED15,synonymous_variant,p.%3D,ENST00000457322,;MED15,5_prime_UTR_variant,,ENST00000542773,;MED15,downstream_gene_variant,,ENST00000414658,;MED15,non_coding_transcript_exon_variant,,ENST00000473028,;MED15,non_coding_transcript_exon_variant,,ENST00000487550,;MED15,upstream_gene_variant,,ENST00000478831,;MED15,downstream_gene_variant,,ENST00000477824,;MED15,3_prime_UTR_variant,,ENST00000433831,;MED15,non_coding_transcript_exon_variant,,ENST00000476767,;MED15,non_coding_transcript_exon_variant,,ENST00000492381,;MED15,downstream_gene_variant,,ENST00000444094,;MED15,downstream_gene_variant,,ENST00000441501,;	621	43	44	SUCCESS
FBLN1	2192	.	GRCh37	22	45972872	45972872	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs11557534	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	56	0	ENST00000327858.6:c.1856G>T	p.Arg619Leu	p.R619L	ENST00000327858	NM_006486.2	619	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS14067.1	1856	MUTECT|MUSE	.	CCTCCGGGCCA	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PIRSF_domain:PIRSF036313	.	.	ENSP00000331544	.	16/17	.	.	.	.	.	.	.	.	rs11557534	16/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.726)	.	deleterious(0.01)	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,missense_variant,p.Arg619Leu,ENST00000348697,;FBLN1,missense_variant,p.Arg619Leu,ENST00000327858,;FBLN1,upstream_gene_variant,,ENST00000460300,;	1951	56	43	SUCCESS
PKDREJ	10343	.	GRCh37	22	46655628	46655628	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780697271	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	52	0	ENST00000253255.5:c.3592G>A	p.Val1198Met	p.V1198M	ENST00000253255	NM_006071.1	1198	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14073.1	3592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGTATA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877	.	.	ENSP00000253255	.	1/1	.	.	.	.	.	.	.	.	rs780697271,COSM3063471	1/1	PASS	ENST00000253255	Transcript	.	.	ENSG00000130943	9015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.015)	.	tolerated(0.18)	0,1	PKDRE_HUMAN	PKDREJ	HGNC	A6MW40_HUMAN	.	UPI0000031D01	SNV	PKDREJ,missense_variant,p.Val1198Met,ENST00000253255,;	3592	52	64	SUCCESS
SHANK3	85358	.	GRCh37	22	51113571	51113571	+	synonymous_variant	Silent	SNP	T	T	C	rs1208475211	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	22	27	0	ENST00000262795.3:c.159T>C	p.Tyr53=	p.Y53=	ENST00000262795	NM_033517.1	53	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	.	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTATGGGCT	NONE	.	.	hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135	.	.	ENSP00000442518	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000262795	Transcript	.	.	ENSG00000251322	14294	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SHANK3	HGNC	F8TCV3_HUMAN,F2Z3L0_HUMAN	.	UPI0000DD85FB	SNV	SHANK3,synonymous_variant,p.%3D,ENST00000262795,;SHANK3,synonymous_variant,p.%3D,ENST00000445220,;SHANK3,synonymous_variant,p.%3D,ENST00000414786,;	159	27	30	SUCCESS
MBD5	55777	.	GRCh37	2	149227546	149227546	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	57	0	ENST00000407073.1:c.2034T>C	p.Ser678=	p.S678=	ENST00000407073	NM_018328.4	678	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS33302.1	2034	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTGCAGT	NONE	.	.	hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14	.	.	ENSP00000386049	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000407073	Transcript	.	.	ENSG00000204406	20444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBD5_HUMAN	MBD5	HGNC	.	.	UPI0000208C40	SNV	MBD5,synonymous_variant,p.%3D,ENST00000407073,;MBD5,synonymous_variant,p.%3D,ENST00000404807,;MBD5,synonymous_variant,p.%3D,ENST00000416015,;	3031	57	55	SUCCESS
PKP4	8502	.	GRCh37	2	159526346	159526346	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	42	148	0	ENST00000389759.3:c.2843A>G	p.Lys948Arg	p.K948R	ENST00000389759	NM_003628.3	948	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS33305.1	2843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAAAAACA	NONE	.	.	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000374409	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000389759	Transcript	.	.	ENSG00000144283	9026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.17)	.	PKP4_HUMAN	PKP4	HGNC	Q53TM5_HUMAN	.	UPI000044D379	SNV	PKP4,missense_variant,p.Lys948Arg,ENST00000389759,;PKP4,missense_variant,p.Lys948Arg,ENST00000389757,;AC005042.4,intron_variant,,ENST00000342892,;PKP4,downstream_gene_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,non_coding_transcript_exon_variant,,ENST00000486254,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,downstream_gene_variant,,ENST00000483881,;	2955	148	129	SUCCESS
ITGB6	3694	.	GRCh37	2	161029224	161029224	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	59	0	ENST00000283249.2:c.777G>T	p.Arg259=	p.R259=	ENST00000283249	NM_001282388.1	259	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2212.1	777	RADIA|MUTECT|MUSE	.	TCATTCCGCCA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	.	.	ENSP00000283249	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000283249	Transcript	.	.	ENSG00000115221	6161	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITB6_HUMAN	ITGB6	HGNC	.	.	UPI000012DA13	SNV	ITGB6,synonymous_variant,p.%3D,ENST00000428609,;ITGB6,synonymous_variant,p.%3D,ENST00000409872,;ITGB6,synonymous_variant,p.%3D,ENST00000409967,;ITGB6,synonymous_variant,p.%3D,ENST00000283249,;ITGB6,non_coding_transcript_exon_variant,,ENST00000485635,;ITGB6,3_prime_UTR_variant,,ENST00000409583,;	1015	59	55	SUCCESS
CSRNP3	80034	.	GRCh37	2	166533005	166533005	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	86	0	ENST00000314499.7:c.592G>A	p.Glu198Lys	p.E198K	ENST00000314499	NM_001172173.1	198	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2225.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGAAAAG	NONE	.	.	hmmpanther:PTHR13580:SF13,hmmpanther:PTHR13580	.	.	ENSP00000318258	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000314499	Transcript	.	.	ENSG00000178662	30729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CSRN3_HUMAN	CSRNP3	HGNC	E7EN18_HUMAN,B8ZZD9_HUMAN	.	UPI0000136882	SNV	CSRNP3,missense_variant,p.Glu230Lys,ENST00000409420,;CSRNP3,missense_variant,p.Glu198Lys,ENST00000342316,;CSRNP3,missense_variant,p.Glu198Lys,ENST00000421875,;CSRNP3,missense_variant,p.Glu198Lys,ENST00000314499,;CSRNP3,downstream_gene_variant,,ENST00000409664,;	968	86	82	SUCCESS
LRP2	4036	.	GRCh37	2	170072882	170072882	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	41	132	0	ENST00000263816.3:c.5707G>A	p.Ala1903Thr	p.A1903T	ENST00000263816	NM_004525.2	1903	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2232.1	5707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGCACTGG	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	35/79	.	.	.	.	.	.	.	.	.	35/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Ala1903Thr,ENST00000263816,;	5993	132	134	SUCCESS
EVX2	344191	.	GRCh37	2	176948522	176948522	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	37	0	ENST00000308618.4:c.-18A>T		p.*6*	ENST00000308618	NM_001080458.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33333.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAATGTCAC	NONE	.	.	.	.	.	ENSP00000312385	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308618	Transcript	.	.	ENSG00000174279	3507	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EVX2_HUMAN	EVX2	HGNC	.	.	UPI000012A2AF	SNV	EVX2,5_prime_UTR_variant,,ENST00000308618,;	120	37	22	SUCCESS
TTN	7273	.	GRCh37	2	179432581	179432581	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	113	0	ENST00000591111.1:c.73355G>A	p.Gly24452Glu	p.G24452E	ENST00000591111		24452	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS59435.1	78278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTCCTGGT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Gly17153Glu,ENST00000359218,;TTN,missense_variant,p.Gly24452Glu,ENST00000591111,;TTN,missense_variant,p.Gly26093Glu,ENST00000589042,;TTN,missense_variant,p.Gly17220Glu,ENST00000342175,;TTN,missense_variant,p.Gly23525Glu,ENST00000342992,;TTN,missense_variant,p.Gly17028Glu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	78503	113	108	SUCCESS
TTN	7273	.	GRCh37	2	179554080	179554080	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	106	0	ENST00000591111.1:c.30997A>C	p.Lys10333Gln	p.K10333Q	ENST00000591111		10333	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS59435.1	31948	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTCTTCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	124/363	.	.	.	.	.	.	.	.	.	124/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys528Gln,ENST00000414766,;TTN,missense_variant,p.Lys9406Gln,ENST00000342992,;TTN,missense_variant,p.Lys10650Gln,ENST00000589042,;TTN,missense_variant,p.Lys10333Gln,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	32173	106	102	SUCCESS
TTN	7273	.	GRCh37	2	179614607	179614607	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	55	142	0	ENST00000591111.1:c.10360+3244G>T		p.*3454*	ENST00000591111				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATCCCCTT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asp4174Tyr,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;	.	142	142	SUCCESS
FSIP2	401024	.	GRCh37	2	186670429	186670429	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	83	0	ENST00000424728.1:c.16396A>G	p.Arg5466Gly	p.R5466G	ENST00000424728		5466	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS54426.1	16663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAGAGGT	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Arg5555Gly,ENST00000343098,;FSIP2,missense_variant,p.Arg5466Gly,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	16663	84	74	SUCCESS
GLB1L	79411	.	GRCh37	2	220102300	220102300	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs183755555	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	106	0	ENST00000295759.7:c.1623C>A	p.Tyr541Ter	p.Y541*	ENST00000295759	NM_001286423.1	541	taC/taA	0	.	A:0	.	A:0	.	T	Y/*	protein_coding	YES	CCDS2437.1	1623	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGTAGAA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49785,PIRSF_domain:PIRSF006336,Gene3D:2.60.120.260,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF50	A:0.002	.	ENSP00000295759	A:0	16/17	.	.	.	.	.	.	.	.	rs183755555	16/17	PASS	ENST00000295759	Transcript	.	A:0.0004	ENSG00000163521	28129	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GLB1L_HUMAN	GLB1L	HGNC	C9JE41_HUMAN,C9J1Y9_HUMAN	.	UPI000003ED32	SNV	GLB1L,stop_gained,p.Tyr451Ter,ENST00000409640,;GLB1L,stop_gained,p.Tyr541Ter,ENST00000295759,;GLB1L,stop_gained,p.Tyr451Ter,ENST00000356283,;GLB1L,stop_gained,p.Tyr541Ter,ENST00000392089,;ANKZF1,downstream_gene_variant,,ENST00000410034,;ANKZF1,downstream_gene_variant,,ENST00000409849,;ANKZF1,downstream_gene_variant,,ENST00000453432,;GLB1L,downstream_gene_variant,,ENST00000440853,;ANKZF1,downstream_gene_variant,,ENST00000323348,;GLB1L,non_coding_transcript_exon_variant,,ENST00000497855,;ANKZF1,downstream_gene_variant,,ENST00000490526,;GLB1L,downstream_gene_variant,,ENST00000471516,;ANKZF1,downstream_gene_variant,,ENST00000465550,;GLB1L,downstream_gene_variant,,ENST00000447002,;ANKZF1,downstream_gene_variant,,ENST00000460966,;ANKZF1,downstream_gene_variant,,ENST00000468387,;ANKZF1,downstream_gene_variant,,ENST00000474225,;GLB1L,downstream_gene_variant,,ENST00000459951,;ANKZF1,downstream_gene_variant,,ENST00000493563,;ANKZF1,downstream_gene_variant,,ENST00000489580,;ANKZF1,downstream_gene_variant,,ENST00000467884,;ANKZF1,downstream_gene_variant,,ENST00000483188,;ANKZF1,downstream_gene_variant,,ENST00000477479,;ANKZF1,downstream_gene_variant,,ENST00000463792,;ANKZF1,downstream_gene_variant,,ENST00000496346,;ANKZF1,downstream_gene_variant,,ENST00000491181,;ANKZF1,downstream_gene_variant,,ENST00000475202,;ANKZF1,downstream_gene_variant,,ENST00000486203,;ANKZF1,downstream_gene_variant,,ENST00000461731,;ANKZF1,downstream_gene_variant,,ENST00000494886,;ANKZF1,downstream_gene_variant,,ENST00000435521,;	1937	106	109	SUCCESS
GMPPA	29926	.	GRCh37	2	220370193	220370193	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756708119	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	62	0	ENST00000313597.5:c.769G>A	p.Ala257Thr	p.A257T	ENST00000313597	NM_013335.3	257	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS2441.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACGCCTCC	NONE	.	.	hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF85,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000350949	.	9/13	.	.	.	.	.	.	.	.	rs756708119	9/13	PASS	ENST00000358215	Transcript	.	.	ENSG00000144591	22923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious(0)	.	GMPPA_HUMAN	GMPPA	HGNC	C9JAH0_HUMAN,C9J255_HUMAN	.	UPI000006D41C	SNV	GMPPA,missense_variant,p.Ala222Thr,ENST00000435316,;GMPPA,missense_variant,p.Ala257Thr,ENST00000373908,;GMPPA,missense_variant,p.Ala257Thr,ENST00000341142,;GMPPA,missense_variant,p.Ala257Thr,ENST00000358215,;GMPPA,missense_variant,p.Ala257Thr,ENST00000373917,;GMPPA,missense_variant,p.Ala257Thr,ENST00000313597,;GMPPA,downstream_gene_variant,,ENST00000455657,;AC053503.11,intron_variant,,ENST00000429882,;GMPPA,missense_variant,p.Ala257Thr,ENST00000443704,;GMPPA,non_coding_transcript_exon_variant,,ENST00000481170,;GMPPA,upstream_gene_variant,,ENST00000496536,;GMPPA,downstream_gene_variant,,ENST00000480506,;GMPPA,upstream_gene_variant,,ENST00000480034,;	1138	62	54	SUCCESS
OBSL1	23363	.	GRCh37	2	220422736	220422736	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373804245	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	36	0	ENST00000404537.1:c.3599C>T	p.Ala1200Val	p.A1200V	ENST00000404537	NM_015311.2	1200	gCt/gTt	0	T:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS46520.1	3599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCAGCCCGG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000385636	.	11/21	.	.	.	.	.	.	.	.	rs373804245	11/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	tolerated(0.26)	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,missense_variant,p.Ala1200Val,ENST00000603926,;OBSL1,missense_variant,p.Ala1200Val,ENST00000373876,;OBSL1,missense_variant,p.Ala194Val,ENST00000456147,;OBSL1,missense_variant,p.Ala161Val,ENST00000604031,;OBSL1,missense_variant,p.Ala191Val,ENST00000265317,;OBSL1,missense_variant,p.Ala1108Val,ENST00000265318,;OBSL1,missense_variant,p.Ala1200Val,ENST00000404537,;OBSL1,downstream_gene_variant,,ENST00000289656,;OBSL1,downstream_gene_variant,,ENST00000373873,;RP11-256I23.2,upstream_gene_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000596474,;	3656	36	41	SUCCESS
ALPPL2	0	.	GRCh37	2	233274441	233274441	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	21	0	ENST00000295453.3:c.1459del	p.Leu487TrpfsTer113	p.L487Wfs*113	ENST00000295453	NM_031313.2	486	tgC/tg	0	.	.	.	.	.	-	C/X	protein_coding	YES	CCDS2491.1	1458	INDELOCATOR|VARSCANI	.	CGCCTGCCTGGA	NONE	.	.	hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	.	.	ENSP00000295453	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000295453	Transcript	.	.	ENSG00000163286	441	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPBN_HUMAN	ALPPL2	HGNC	.	.	UPI000013E259	deletion	ALPPL2,frameshift_variant,p.Leu487TrpfsTer113,ENST00000295453,;	1510	21	36	SUCCESS
ALK	238	.	GRCh37	2	30143210	30143210	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	28	0	ENST00000389048.3:c.316C>T	p.Pro106Ser	p.P106S	ENST00000389048	NM_004304.4	106	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33172.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGGCGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000373700	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000389048	Transcript	.	.	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.2)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Pro106Ser,ENST00000389048,;ALK,missense_variant,p.Pro106Ser,ENST00000431873,;	1223	28	22	SUCCESS
REEP1	65055	.	GRCh37	2	86479176	86479176	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	33	0	ENST00000165698.5:c.321G>A	p.Leu107=	p.L107=	ENST00000165698	NM_022912.2	107	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54374.1	342	RADIA|MUSE|VARSCANS	.	TGGACCAGACA	NONE	.	.	hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF33	.	.	ENSP00000438346	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000538924	Transcript	.	.	ENSG00000068615	25786	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REEP1_HUMAN	REEP1	HGNC	E7EUF7_HUMAN	.	UPI0001914DEC	SNV	REEP1,synonymous_variant,p.%3D,ENST00000538924,;REEP1,synonymous_variant,p.%3D,ENST00000489855,;REEP1,synonymous_variant,p.%3D,ENST00000535845,;REEP1,synonymous_variant,p.%3D,ENST00000540790,;REEP1,synonymous_variant,p.%3D,ENST00000165698,;REEP1,synonymous_variant,p.%3D,ENST00000453231,;REEP1,synonymous_variant,p.%3D,ENST00000428491,;REEP1,intron_variant,,ENST00000541910,;REEP1,intron_variant,,ENST00000437769,;REEP1,non_coding_transcript_exon_variant,,ENST00000473407,;REEP1,non_coding_transcript_exon_variant,,ENST00000490915,;	349	33	33	SUCCESS
IGKV6-21	28906	.	GRCh37	2	89459521	89459521	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777956952	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	71	224	0	ENST00000390256.2:c.56G>C	p.Gly19Ala	p.G19A	ENST00000390256		19	gGt/gCt	0	.	.	.	.	.	G	G/A	IG_V_gene	YES	.	56	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACCCCTG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF146,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	.	ENSP00000374791	.	2/2	.	.	.	.	.	.	.	.	rs777956952	2/2	PASS	ENST00000390256	Transcript	.	.	ENSG00000211611	5836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(0.1)	.	.	IGKV6-21	HGNC	.	.	UPI0000113B3E	SNV	IGKV6-21,missense_variant,p.Gly19Ala,ENST00000390256,;	120	224	180	SUCCESS
FANCD2	2177	.	GRCh37	3	10102063	10102063	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	57	0	ENST00000383807.1:c.1742T>C	p.Met581Thr	p.M581T	ENST00000383807	NM_001018115.1	581	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS2595.1	1742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCATGGCTG	NONE	.	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	.	.	ENSP00000287647	.	19/43	.	.	.	.	.	.	.	.	.	19/43	PASS	ENST00000287647	Transcript	.	.	ENSG00000144554	3585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.79)	.	tolerated(0.08)	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,missense_variant,p.Met581Thr,ENST00000383807,;FANCD2,missense_variant,p.Met581Thr,ENST00000287647,;FANCD2,missense_variant,p.Met581Thr,ENST00000419585,;FANCD2,missense_variant,p.Met581Thr,ENST00000383806,;FANCD2,upstream_gene_variant,,ENST00000470757,;FANCD2,missense_variant,p.Met81Thr,ENST00000421731,;FANCD2,upstream_gene_variant,,ENST00000480909,;CYCSP11,upstream_gene_variant,,ENST00000436426,;	1835	57	60	SUCCESS
KALRN	8997	.	GRCh37	3	124303538	124303538	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	21	0	ENST00000291478.5:c.-131G>C		p.*44*	ENST00000291478	NM_007064.3			0	.	.	.	.	.	C	.	protein_coding	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGGTGCGG	NONE	.	.	.	.	.	ENSP00000400064	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000454902	Transcript	.	.	ENSG00000160145	4814	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KALRN	HGNC	C9J1B4_HUMAN	.	UPI0000E5A8DD	SNV	KALRN,5_prime_UTR_variant,,ENST00000454902,;KALRN,5_prime_UTR_variant,,ENST00000291478,;KALRN,intron_variant,,ENST00000393496,;KALRN,intron_variant,,ENST00000354186,;KALRN,intron_variant,,ENST00000360013,;KALRN,upstream_gene_variant,,ENST00000428018,;KALRN,intron_variant,,ENST00000471431,;	10	21	14	SUCCESS
MGLL	11343	.	GRCh37	3	127541280	127541280	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	31	0	ENST00000398104.1:c.-20-599A>G		p.*7*	ENST00000398104	NM_001003794.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46902.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTTCCCG	NONE	.	.	.	.	.	ENSP00000265052	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000265052	Transcript	.	.	ENSG00000074416	17038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGLL_HUMAN	MGLL	HGNC	C9JAM4_HUMAN,C9J8Q3_HUMAN	.	UPI000004EC90	SNV	MGLL,5_prime_UTR_variant,,ENST00000265052,;MGLL,5_prime_UTR_variant,,ENST00000434178,;MGLL,intron_variant,,ENST00000398104,;MGLL,upstream_gene_variant,,ENST00000494830,;MGLL,upstream_gene_variant,,ENST00000453507,;MGLL,intron_variant,,ENST00000479967,;	422	31	31	SUCCESS
GMPS	8833	.	GRCh37	3	155640077	155640077	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375802837	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	262	130	470	0	ENST00000496455.2:c.1420G>T	p.Ala474Ser	p.A474S	ENST00000496455	NM_003875.2	474	Gca/Tca	0	T:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS46941.1	1420	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTGCAAGT	NONE	byCluster	.	Superfamily_domains:0047036,Gene3D:3.30.300.10,hmmpanther:PTHR11922:SF2,hmmpanther:PTHR11922	.	T:0.0001	ENSP00000419851	.	11/16	.	.	.	.	.	.	.	.	rs375802837	11/16	PASS	ENST00000496455	Transcript	.	.	ENSG00000163655	4378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.74)	.	GUAA_HUMAN	GMPS	HGNC	A8K639_HUMAN	.	UPI0000000CC6	SNV	GMPS,missense_variant,p.Ala474Ser,ENST00000496455,;GMPS,missense_variant,p.Ala375Ser,ENST00000295920,;	1755	470	393	SUCCESS
MECOM	2122	.	GRCh37	3	168838896	168838896	+	synonymous_variant	Silent	SNP	C	C	A	rs185054275	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	73	0	ENST00000468789.1:c.516G>T	p.Ser172=	p.S172=	ENST00000468789	NM_001105078.3	172	tcG/tcT	0	.	T:0	.	T:0.0029	.	A	S	protein_coding	YES	CCDS54670.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGACGAAGT	CODON|p.S172L|c.515C>T|4	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0	.	ENSP00000264674	T:0	7/17	.	.	.	.	.	.	.	.	rs185054275	7/17	PASS	ENST00000264674	Transcript	.	T:0.0004	ENSG00000085276	3498	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,synonymous_variant,p.%3D,ENST00000472280,;MECOM,synonymous_variant,p.%3D,ENST00000460814,;MECOM,synonymous_variant,p.%3D,ENST00000464456,;MECOM,synonymous_variant,p.%3D,ENST00000392736,;MECOM,synonymous_variant,p.%3D,ENST00000494292,;MECOM,synonymous_variant,p.%3D,ENST00000468789,;MECOM,synonymous_variant,p.%3D,ENST00000433243,;MECOM,synonymous_variant,p.%3D,ENST00000492586,;MECOM,synonymous_variant,p.%3D,ENST00000264674,;MECOM,downstream_gene_variant,,ENST00000460890,;MECOM,downstream_gene_variant,,ENST00000487503,;MECOM,downstream_gene_variant,,ENST00000484519,;MECOM,downstream_gene_variant,,ENST00000494597,;MECOM,non_coding_transcript_exon_variant,,ENST00000461430,;	850	73	62	SUCCESS
LRRC31	79782	.	GRCh37	3	169565966	169565966	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	60	0	ENST00000316428.5:c.1269T>A	p.Ser423=	p.S423=	ENST00000316428	NM_024727.3	423	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43167.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGACAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24109,Gene3D:3.80.10.10,Pfam_domain:PF13504,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000325978	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000316428	Transcript	.	.	ENSG00000114248	26261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC31_HUMAN	LRRC31	HGNC	.	.	UPI00001D690F	SNV	LRRC31,synonymous_variant,p.%3D,ENST00000264676,;LRRC31,synonymous_variant,p.%3D,ENST00000523069,;LRRC31,synonymous_variant,p.%3D,ENST00000316428,;	1327	60	44	SUCCESS
TNK2	10188	.	GRCh37	3	195609177	195609177	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779055442	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	32	120	0	ENST00000333602.6:c.632G>T	p.Gly211Val	p.G211V	ENST00000333602	NM_005781.4	211	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33927.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGATCCCAGA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000371341	.	6/15	.	.	.	.	.	.	.	.	rs779055442	6/15	PASS	ENST00000381916	Transcript	.	.	ENSG00000061938	19297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ACK1_HUMAN	TNK2	HGNC	C9JDG3_HUMAN	.	UPI00004C9B08	SNV	TNK2,missense_variant,p.Gly243Val,ENST00000428187,;TNK2,missense_variant,p.Gly211Val,ENST00000316664,;TNK2,missense_variant,p.Gly211Val,ENST00000392400,;TNK2,missense_variant,p.Gly211Val,ENST00000333602,;TNK2,missense_variant,p.Gly274Val,ENST00000381916,;TNK2,missense_variant,p.Gly136Val,ENST00000438207,;TNK2,downstream_gene_variant,,ENST00000427576,;TNK2,downstream_gene_variant,,ENST00000433111,;TNK2,non_coding_transcript_exon_variant,,ENST00000468819,;TNK2,intron_variant,,ENST00000486523,;TNK2,missense_variant,p.Gly211Val,ENST00000439230,;TNK2,3_prime_UTR_variant,,ENST00000430929,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,intron_variant,,ENST00000464041,;TNK2,downstream_gene_variant,,ENST00000447060,;TNK2,upstream_gene_variant,,ENST00000489628,;	966	120	113	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913396	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	56	161	0	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2694.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32V|c.95A>T|41,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.988)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	161	164	SUCCESS
ZNF502	91392	.	GRCh37	3	44762400	44762400	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	34	101	0	ENST00000296091.4:c.91G>A	p.Asp31Asn	p.D31N	ENST00000296091	NM_001134440.1	31	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2719.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGATGTC	NONE	.	.	.	.	.	ENSP00000296091	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000296091	Transcript	.	.	ENSG00000196653	23718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	ZN502_HUMAN	ZNF502	HGNC	C9JLT3_HUMAN	.	UPI0000072CFB	SNV	ZNF502,missense_variant,p.Asp31Asn,ENST00000449836,;ZNF502,missense_variant,p.Asp31Asn,ENST00000411443,;ZNF502,missense_variant,p.Asp31Asn,ENST00000436624,;ZNF502,missense_variant,p.Asp31Asn,ENST00000296091,;	347	101	93	SUCCESS
CLEC3B	7123	.	GRCh37	3	45077186	45077186	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	46	0	ENST00000296130.4:c.379A>T	p.Asn127Tyr	p.N127Y	ENST00000296130	NM_003278.2	127	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS2726.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCAACGAG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF3,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504	.	.	ENSP00000296130	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	deleterious(0.02)	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,missense_variant,p.Asn127Tyr,ENST00000296130,;CLEC3B,missense_variant,p.Asn85Tyr,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	559	46	42	SUCCESS
SLMAP	7871	.	GRCh37	3	57898307	57898307	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	50	0	ENST00000428312.1:c.1848T>A	p.Leu616=	p.L616=	ENST00000428312		616	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS33774.1	1797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTTGAGCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF8,Pfam_domain:PF01920	.	.	ENSP00000295951	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000295951	Transcript	.	.	ENSG00000163681	16643	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,synonymous_variant,p.%3D,ENST00000494088,;SLMAP,synonymous_variant,p.%3D,ENST00000449503,;SLMAP,synonymous_variant,p.%3D,ENST00000417128,;SLMAP,synonymous_variant,p.%3D,ENST00000438794,;SLMAP,synonymous_variant,p.%3D,ENST00000442599,;SLMAP,synonymous_variant,p.%3D,ENST00000416870,;SLMAP,synonymous_variant,p.%3D,ENST00000466255,;SLMAP,synonymous_variant,p.%3D,ENST00000295952,;SLMAP,synonymous_variant,p.%3D,ENST00000495364,;SLMAP,synonymous_variant,p.%3D,ENST00000416658,;SLMAP,synonymous_variant,p.%3D,ENST00000428312,;SLMAP,synonymous_variant,p.%3D,ENST00000295951,;SLMAP,downstream_gene_variant,,ENST00000461354,;SLMAP,upstream_gene_variant,,ENST00000460223,;SLMAP,non_coding_transcript_exon_variant,,ENST00000472546,;SLMAP,non_coding_transcript_exon_variant,,ENST00000476471,;SLMAP,upstream_gene_variant,,ENST00000497084,;SLMAP,downstream_gene_variant,,ENST00000459654,;	3014	50	38	SUCCESS
KIAA1109	84162	.	GRCh37	4	123128393	123128393	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764953885	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	189	0	ENST00000264501.4:c.1627G>A	p.Asp543Asn	p.D543N	ENST00000264501		543	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43267.1	1627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCGACTGT	NONE	byCluster	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	16/86	.	.	.	.	.	.	.	.	rs764953885	16/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Asp376Asn,ENST00000424425,;KIAA1109,missense_variant,p.Asp543Asn,ENST00000455637,;KIAA1109,missense_variant,p.Asp543Asn,ENST00000264501,;KIAA1109,missense_variant,p.Asp543Asn,ENST00000388738,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;KIAA1109,upstream_gene_variant,,ENST00000482114,;	2000	189	151	SUCCESS
BBS12	166379	.	GRCh37	4	123664403	123664404	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CAGG	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	99	0	ENST00000314218.3:c.1357_1360dup	p.Val454AlafsTer10	p.V454Afs*10	ENST00000314218	NM_152618.2	452	-/CAGG	0	.	.	.	.	.	CAGG	-/QX	protein_coding	YES	CCDS3728.1	1356-1357	INDELOCATOR*|VARSCANI*|PINDEL	.	GCAGTACAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11353:SF30,hmmpanther:PTHR11353,Gene3D:3.50.7.10,Pfam_domain:PF00118,Superfamily_domains:SSF52029	.	.	ENSP00000438273	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000542236	Transcript	1	.	ENSG00000181004	26648	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BBS12_HUMAN	BBS12	HGNC	C9J8H7_HUMAN	.	UPI0000231CAC	insertion	BBS12,frameshift_variant,p.Val454AlafsTer10,ENST00000542236,;BBS12,frameshift_variant,p.Val454AlafsTer10,ENST00000314218,;BBS12,downstream_gene_variant,,ENST00000433287,;	1737-1738	99	71	SUCCESS
DCHS2	54798	.	GRCh37	4	155157921	155157921	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	63	0	ENST00000357232.4:c.6518G>A	p.Ser2173Asn	p.S2173N	ENST00000357232	NM_017639.3	2173	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS3785.1	6518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCACTTGCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000349768	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.08)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Ser2173Asn,ENST00000357232,;	6518	63	66	SUCCESS
DCHS2	54798	.	GRCh37	4	155264728	155264728	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1480808844	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	25	0	ENST00000357232.4:c.871A>G	p.Lys291Glu	p.K291E	ENST00000357232	NM_017639.3	291	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3785.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTTAAACC	NONE	.	.	PROSITE_profiles:PS50268	.	.	ENSP00000349768	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,missense_variant,p.Lys291Glu,ENST00000357232,;DCHS2,intron_variant,,ENST00000339452,;DCHS2,intron_variant,,ENST00000507542,;DCHS2,intron_variant,,ENST00000504580,;	871	25	29	SUCCESS
FGA	2243	.	GRCh37	4	155507134	155507134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	32	130	0	ENST00000302053.3:c.1447G>A	p.Val483Met	p.V483M	ENST00000302053	NM_000508.3	483	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3787.1	1447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCACCACTT	NONE	.	.	Pfam_domain:PF12160,hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.12)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Val483Met,ENST00000302053,;FGA,missense_variant,p.Val483Met,ENST00000403106,;	1526	130	95	SUCCESS
DCAF4L1	285429	.	GRCh37	4	41984018	41984018	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754119361	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	59	169	1	ENST00000333141.5:c.209C>T	p.Ala70Val	p.A70V	ENST00000333141	NM_001029955.3	70	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33978.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCGAGCG	NONE	.	.	hmmpanther:PTHR22847:SF327,hmmpanther:PTHR22847	.	.	ENSP00000327796	.	1/1	.	.	.	.	.	.	.	.	rs754119361,COSM3696655	1/1	PASS	ENST00000333141	Transcript	.	.	ENSG00000182308	27723	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(0.25)	0,1	DC4L1_HUMAN	DCAF4L1	HGNC	.	.	UPI0000160C25	SNV	DCAF4L1,missense_variant,p.Ala70Val,ENST00000333141,;	306	170	134	SUCCESS
ATP8A1	10396	.	GRCh37	4	42583637	42583637	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	65	0	ENST00000381668.5:c.834+1G>T		p.X278_splice	ENST00000381668	NM_006095.2	278		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCACCTGCA	NONE	.	.	.	.	.	ENSP00000371084	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	HIGH	10/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,splice_donor_variant,,ENST00000381668,;ATP8A1,splice_donor_variant,,ENST00000264449,;ATP8A1,downstream_gene_variant,,ENST00000504510,;ATP8A1,downstream_gene_variant,,ENST00000504024,;	.	65	64	SUCCESS
FRAS1	80144	.	GRCh37	4	79391155	79391155	+	synonymous_variant	Silent	SNP	G	G	A	rs546503799	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	69	0	ENST00000264895.6:c.7281G>A	p.Pro2427=	p.P2427=	ENST00000264895	NM_025074.6	2427	ccG/ccA	0	.	A:0.0015	.	A:0	.	A	P	protein_coding	YES	CCDS54771.1	7281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCGTTCCG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	A:0	.	ENSP00000264895	A:0	51/74	.	.	.	.	.	.	.	.	rs546503799	51/74	PASS	ENST00000264895	Transcript	1	A:0.0004	ENSG00000138759	19185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,synonymous_variant,p.%3D,ENST00000512123,;FRAS1,synonymous_variant,p.%3D,ENST00000264895,;	7721	69	62	SUCCESS
DMP1	1758	.	GRCh37	4	88584445	88584445	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	79	0	ENST00000339673.6:c.1515T>C	p.Asp505=	p.D505=	ENST00000339673	NM_004407.3	505	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3623.1	1515	MUTECT|MUSE	.	CAAGATGACAA	NONE	.	.	hmmpanther:PTHR23400,hmmpanther:PTHR23400:SF0,Pfam_domain:PF07263	.	.	ENSP00000340935	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000339673	Transcript	1	.	ENSG00000152592	2932	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMP1_HUMAN	DMP1	HGNC	.	.	UPI00001294DE	SNV	DMP1,synonymous_variant,p.%3D,ENST00000339673,;DMP1,synonymous_variant,p.%3D,ENST00000282479,;RP11-742B18.1,intron_variant,,ENST00000506480,;RP11-742B18.1,intron_variant,,ENST00000507894,;RP11-742B18.1,upstream_gene_variant,,ENST00000506814,;	1614	79	61	SUCCESS
STPG2	285555	.	GRCh37	4	98893569	98893569	+	synonymous_variant	Silent	SNP	C	C	T	rs1271912172	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	91	281	1	ENST00000295268.3:c.795G>A	p.Leu265=	p.L265=	ENST00000295268	NM_174952.2	265	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3645.1	795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTCAAGAC	NONE	.	.	hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF10,Pfam_domain:PF07004	.	.	ENSP00000295268	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000295268	Transcript	.	.	ENSG00000163116	28712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STPG2_HUMAN	STPG2	HGNC	.	.	UPI00000734EC	SNV	STPG2,synonymous_variant,p.%3D,ENST00000295268,;STPG2,upstream_gene_variant,,ENST00000522676,;	885	282	281	SUCCESS
STPG2	285555	.	GRCh37	4	98902423	98902423	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	120	0	ENST00000295268.3:c.659A>T	p.Asn220Ile	p.N220I	ENST00000295268	NM_174952.2	220	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS3645.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATTATAT	NONE	.	.	hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF10,Pfam_domain:PF07004	.	.	ENSP00000295268	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000295268	Transcript	.	.	ENSG00000163116	28712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	STPG2_HUMAN	STPG2	HGNC	.	.	UPI00000734EC	SNV	STPG2,missense_variant,p.Asn220Ile,ENST00000295268,;	749	120	79	SUCCESS
PCDHA14	26307	.	GRCh37	5	140242717	140242717	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	30	0	ENST00000506751.1:n.1858T>A		p.*620*	ENST00000506751		87		0	.	.	.	.	.	A	R/W	protein_coding	YES	.	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCTGCTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000424817	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000502505	Transcript	.	.	ENSG00000249034	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious_low_confidence(0)	.	.	AC005609.1	Clone_based_ensembl_gene	Q8NB83_HUMAN	.	UPI0000073A41	SNV	AC005609.1,missense_variant,p.Arg87Trp,ENST00000502505,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;	508	30	17	SUCCESS
ARSI	340075	.	GRCh37	5	149677632	149677632	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	72	0	ENST00000328668.7:c.855T>C	p.Gly285=	p.G285=	ENST00000328668	NM_001012301.2	285	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS34275.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAAACCGTA	NONE	.	.	hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000333395	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328668	Transcript	1	.	ENSG00000183876	32521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARSI_HUMAN	ARSI	HGNC	D6RDH0_HUMAN	.	UPI000003FD83	SNV	ARSI,synonymous_variant,p.%3D,ENST00000515301,;ARSI,synonymous_variant,p.%3D,ENST00000328668,;ARSI,downstream_gene_variant,,ENST00000509146,;	1435	72	59	SUCCESS
GABRA6	2559	.	GRCh37	5	161118965	161118965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	58	0	ENST00000274545.5:c.845C>A	p.Thr282Asn	p.T282N	ENST00000274545		282	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS4356.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAACTATGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	.	.	ENSP00000274545	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,missense_variant,p.Thr272Asn,ENST00000523217,;GABRA6,missense_variant,p.Thr282Asn,ENST00000274545,;GABRA6,downstream_gene_variant,,ENST00000520000,;GABRA6,downstream_gene_variant,,ENST00000517823,;GABRA6,downstream_gene_variant,,ENST00000523691,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	1278	58	66	SUCCESS
KCNIP1	30820	.	GRCh37	5	170160865	170160865	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs757836065	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	42	0	ENST00000411494.1:c.599T>C	p.Ile200Thr	p.I200T	ENST00000411494		200	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34286.1	599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATCGTAA	NONE	.	.	Superfamily_domains:SSF47473,SMART_domains:SM00054,Pfam_domain:PF13499,Gene3D:1.10.238.10,PROSITE_patterns:PS00018,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF27,PROSITE_profiles:PS50222	.	.	ENSP00000395323	.	8/9	.	.	.	.	.	.	.	.	rs757836065	8/9	PASS	ENST00000411494	Transcript	.	.	ENSG00000182132	15521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.228)	.	deleterious(0.01)	.	KCIP1_HUMAN	KCNIP1	HGNC	.	.	UPI000004A27F	SNV	KCNIP1,missense_variant,p.Ile200Thr,ENST00000411494,;KCNIP1,missense_variant,p.Ile189Thr,ENST00000390656,;KCNIP1,missense_variant,p.Ile189Thr,ENST00000328939,;KCNIP1,missense_variant,p.Ile198Thr,ENST00000377360,;KCNIP1,missense_variant,p.Ile161Thr,ENST00000520740,;KCNIP1,missense_variant,p.Ile214Thr,ENST00000434108,;	599	42	42	SUCCESS
HNRNPAB	3182	.	GRCh37	5	177637219	177637219	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs115721462	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	72	0	ENST00000358344.3:c.874G>T	p.Gly292Cys	p.G292C	ENST00000358344	NM_031266.2	292	Ggc/Tgc	0	A:0.0023	A:0.0015	.	A:0	.	T	G/C	protein_coding	YES	CCDS34309.1	874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGGCTAC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF295,hmmpanther:PTHR24012	A:0	A:0	ENSP00000351108	A:0	7/8	.	.	.	.	.	.	.	.	rs115721462	7/8	PASS	ENST00000358344	Transcript	.	A:0.0004	ENSG00000197451	5034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	deleterious(0.01)	.	ROAA_HUMAN	HNRNPAB	HGNC	B4DMY3_HUMAN	.	UPI0000070026	SNV	HNRNPAB,missense_variant,p.Gly287Cys,ENST00000506339,;HNRNPAB,missense_variant,p.Gly292Cys,ENST00000504898,;HNRNPAB,missense_variant,p.Gly292Cys,ENST00000358344,;HNRNPAB,intron_variant,,ENST00000506259,;HNRNPAB,intron_variant,,ENST00000514633,;HNRNPAB,intron_variant,,ENST00000515193,;HNRNPAB,intron_variant,,ENST00000355836,;PHYKPL,intron_variant,,ENST00000308158,;PHYKPL,intron_variant,,ENST00000481811,;PHYKPL,intron_variant,,ENST00000393488,;PHYKPL,intron_variant,,ENST00000489262,;PHYKPL,intron_variant,,ENST00000474052,;PHYKPL,intron_variant,,ENST00000494126,;PHYKPL,intron_variant,,ENST00000510991,;PHYKPL,intron_variant,,ENST00000481436,;PHYKPL,intron_variant,,ENST00000493197,;HNRNPAB,downstream_gene_variant,,ENST00000504796,;PHYKPL,downstream_gene_variant,,ENST00000476487,;PHYKPL,downstream_gene_variant,,ENST00000506045,;	1131	72	46	SUCCESS
NUP155	9631	.	GRCh37	5	37351407	37351407	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	37	160	0	ENST00000231498.3:c.608A>G	p.Asp203Gly	p.D203G	ENST00000231498	NM_153485.2	203	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3921.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATCTGGA	NONE	.	.	Pfam_domain:PF08801,hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350	.	.	ENSP00000231498	.	6/35	.	.	.	.	.	.	.	.	.	6/35	PASS	ENST00000231498	Transcript	1	.	ENSG00000113569	8063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	NU155_HUMAN	NUP155	HGNC	B4DLT2_HUMAN,B3KMK3_HUMAN	.	UPI0000001C7F	SNV	NUP155,missense_variant,p.Asp203Gly,ENST00000513532,;NUP155,missense_variant,p.Asp144Gly,ENST00000381843,;NUP155,missense_variant,p.Asp203Gly,ENST00000231498,;NUP155,upstream_gene_variant,,ENST00000507233,;	812	160	115	SUCCESS
ERAP2	64167	.	GRCh37	5	96232185	96232185	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	59	224	0	ENST00000437043.3:c.1348T>C	p.Phe450Leu	p.F450L	ENST00000437043	NM_001130140.1	450	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS4086.1	1348	RADIA|MUTECT|MUSE	.	AAATGTTTGAT	NONE	.	.	hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Gene3D:1.10.390.10,Pfam_domain:PF01433,Superfamily_domains:SSF55486	.	.	ENSP00000400376	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000437043	Transcript	.	.	ENSG00000164308	29499	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	ERAP2_HUMAN	ERAP2	HGNC	D6RGW0_HUMAN	.	UPI0000036336	SNV	ERAP2,missense_variant,p.Phe405Leu,ENST00000379904,;ERAP2,missense_variant,p.Phe450Leu,ENST00000510373,;ERAP2,missense_variant,p.Phe450Leu,ENST00000437043,;ERAP2,intron_variant,,ENST00000508077,;ERAP2,non_coding_transcript_exon_variant,,ENST00000515095,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,missense_variant,p.Phe450Leu,ENST00000513084,;ERAP2,non_coding_transcript_exon_variant,,ENST00000515387,;ERAP2,upstream_gene_variant,,ENST00000513368,;	2059	224	190	SUCCESS
PHF10	55274	.	GRCh37	6	170114882	170114882	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	35	114	0	ENST00000339209.4:c.750C>A	p.Val250=	p.V250=	ENST00000339209	NM_133325.2	250	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5308.2	750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGACCTT	NONE	.	.	hmmpanther:PTHR10615	.	.	ENSP00000341805	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000339209	Transcript	.	.	ENSG00000130024	18250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF10_HUMAN	PHF10	HGNC	S5FMB0_HUMAN	.	UPI0000EE1F6E	SNV	PHF10,synonymous_variant,p.%3D,ENST00000366780,;PHF10,synonymous_variant,p.%3D,ENST00000339209,;PHF10,downstream_gene_variant,,ENST00000464779,;PHF10,intron_variant,,ENST00000480008,;	874	114	71	SUCCESS
TREML1	340205	.	GRCh37	6	41121665	41121665	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	8	123	0	ENST00000426005.2:c.207C>T	p.Arg69=	p.R69=	ENST00000426005	NM_178174.3	69	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4851.1	207	MUTECT|MUSE	.	GCTCTGCGATC	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR11860:SF35,hmmpanther:PTHR11860	.	.	ENSP00000402855	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000426005	Transcript	.	.	ENSG00000161911	20434	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRML1_HUMAN	TREML1	HGNC	.	.	UPI0000074451	SNV	TREML1,synonymous_variant,p.%3D,ENST00000373127,;TREML1,synonymous_variant,p.%3D,ENST00000426005,;TREML1,intron_variant,,ENST00000437044,;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,;TREM2,downstream_gene_variant,,ENST00000373113,;TREML1,upstream_gene_variant,,ENST00000590581,;	251	123	191	SUCCESS
VWDE	221806	.	GRCh37	7	12375836	12375836	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781110033	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	41	136	0	ENST00000275358.3:c.4585G>T	p.Gly1529Cys	p.G1529C	ENST00000275358	NM_001135924.1	1529	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS47544.1	4585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCGTTTT	NONE	.	.	SMART_domains:SM00181,Gene3D:2gy5A03,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67,PROSITE_profiles:PS50026	.	.	ENSP00000275358	.	27/29	.	.	.	.	.	.	.	.	rs781110033	27/29	PASS	ENST00000275358	Transcript	.	.	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Gly1529Cys,ENST00000275358,;VWDE,3_prime_UTR_variant,,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;VWDE,upstream_gene_variant,,ENST00000485526,;	4774	136	145	SUCCESS
GIMAP5	55340	.	GRCh37	7	150440117	150440117	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752925970	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	72	0	ENST00000358647.3:c.890T>C	p.Phe297Ser	p.F297S	ENST00000358647	NM_018384.4	297	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS5907.1	890	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTCATTA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10903:SF7,hmmpanther:PTHR10903	.	.	ENSP00000351473	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000358647	Transcript	.	.	ENSG00000196329	18005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.08)	.	GIMA5_HUMAN	GIMAP5	HGNC	B4DNE2_HUMAN	.	UPI000004EC77	SNV	GIMAP5,missense_variant,p.Phe297Ser,ENST00000358647,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000479556,;GIMAP5,intron_variant,,ENST00000466347,;GIMAP5,downstream_gene_variant,,ENST00000493304,;GIMAP5,downstream_gene_variant,,ENST00000498181,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000476324,;GIMAP5,downstream_gene_variant,,ENST00000469272,;RP5-1051J4.6,downstream_gene_variant,,ENST00000313192,;RP5-1051J4.6,downstream_gene_variant,,ENST00000495150,;	1257	72	48	SUCCESS
KMT2C	58508	.	GRCh37	7	151860694	151860694	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs778241763	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	52	180	0	ENST00000262189.6:c.9968A>C	p.His3323Pro	p.H3323P	ENST00000262189	NM_170606.2	3323	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS5931.1	9968	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTATGGCCA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	43/59	.	.	.	.	.	.	.	.	rs778241763	43/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.His3323Pro,ENST00000355193,;KMT2C,missense_variant,p.His829Pro,ENST00000360104,;KMT2C,missense_variant,p.His3323Pro,ENST00000262189,;KMT2C,upstream_gene_variant,,ENST00000424877,;KMT2C,upstream_gene_variant,,ENST00000418061,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	10187	180	148	SUCCESS
DPP6	1804	.	GRCh37	7	154593130	154593130	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	51	0	ENST00000377770.3:c.1365A>T	p.Gly455=	p.G455=	ENST00000377770		455	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	.	1365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGAGGACG	NONE	.	.	Superfamily_domains:SSF82171,Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	13/26	.	.	.	.	.	.	.	.	.	13/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,synonymous_variant,p.%3D,ENST00000427557,;DPP6,synonymous_variant,p.%3D,ENST00000377770,;DPP6,synonymous_variant,p.%3D,ENST00000332007,;DPP6,synonymous_variant,p.%3D,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000471100,;DPP6,upstream_gene_variant,,ENST00000493268,;	1506	51	63	SUCCESS
DNAH11	8701	.	GRCh37	7	21934278	21934280	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	CAG	CAG	.	.	.	.	.	.	.	.	.	.	.	.	.	80	36	133	0	ENST00000409508.3:c.12788_12790del	p.Pro4263_Glu4264delinsGln	p.P4263_E4264delinsQ	ENST00000409508	NM_001277115.1	4263	cCAGaa/caa	0	.	.	.	.	.	-	PE/Q	protein_coding	YES	.	12809-12811	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTTCCAGAAGAG	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000330671	.	79/83	.	.	.	.	.	.	.	.	.	79/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	deletion	DNAH11,inframe_deletion,p.Pro4270_Glu4271delinsGln,ENST00000328843,;DNAH11,inframe_deletion,p.Pro4263_Glu4264delinsGln,ENST00000409508,;DNAH11,non_coding_transcript_exon_variant,,ENST00000479878,;	12840-12842	133	116	SUCCESS
CPVL	54504	.	GRCh37	7	29160618	29160618	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	131	0	ENST00000265394.5:c.60T>C	p.Cys20=	p.C20=	ENST00000265394	NM_031311.3	20	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS5419.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCACAGGG	NONE	.	.	hmmpanther:PTHR11802,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000387164	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000409850	Transcript	.	.	ENSG00000106066	14399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPVL_HUMAN	CPVL	HGNC	Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN	.	UPI0000048F1B	SNV	CPVL,synonymous_variant,p.%3D,ENST00000265394,;CPVL,synonymous_variant,p.%3D,ENST00000449801,;CPVL,synonymous_variant,p.%3D,ENST00000455544,;CPVL,synonymous_variant,p.%3D,ENST00000396276,;CPVL,synonymous_variant,p.%3D,ENST00000409850,;CPVL,downstream_gene_variant,,ENST00000437527,;CPVL,non_coding_transcript_exon_variant,,ENST00000488891,;CHN2,upstream_gene_variant,,ENST00000606897,;CHN2,upstream_gene_variant,,ENST00000578605,;CHN2,upstream_gene_variant,,ENST00000443025,;CHN2,upstream_gene_variant,,ENST00000582692,;CHN2,upstream_gene_variant,,ENST00000588769,;	707	131	93	SUCCESS
BMPER	168667	.	GRCh37	7	34192707	34192707	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143727756	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	33	78	0	ENST00000297161.2:c.1880C>T	p.Thr627Ile	p.T627I	ENST00000297161	NM_133468.4	627	aCc/aTc	0	T:0	.	.	.	.	T	T/I	protein_coding	YES	CCDS5442.1	1880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCCAGT	NONE	byCluster	.	hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Superfamily_domains:SSF57567	.	T:0.0001	ENSP00000297161	.	16/16	.	.	.	.	.	.	.	.	rs143727756	16/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.02)	.	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Thr627Ile,ENST00000297161,;BMPER,missense_variant,p.Thr627Ile,ENST00000426693,;	2254	78	89	SUCCESS
AMPH	273	.	GRCh37	7	38670937	38670937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	26	0	ENST00000356264.2:c.15G>T	p.Lys5Asn	p.K5N	ENST00000356264	NM_001635.3	5	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5456.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTCTTGAT	NONE	.	.	hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,Prints_domain:PR01252	.	.	ENSP00000348602	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.816)	.	tolerated(0.14)	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Lys5Asn,ENST00000356264,;AMPH,missense_variant,p.Lys5Asn,ENST00000428293,;AMPH,missense_variant,p.Lys5Asn,ENST00000325590,;	231	26	39	SUCCESS
CDK13	8621	.	GRCh37	7	40027408	40027408	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	100	0	ENST00000181839.4:c.1422A>C	p.Ala474=	p.A474=	ENST00000181839	NM_031267.3	474	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS5461.1	1422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGAAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000181839	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000181839	Transcript	.	.	ENSG00000065883	1733	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK13_HUMAN	CDK13	HGNC	.	.	UPI000013C5E3	SNV	CDK13,synonymous_variant,p.%3D,ENST00000340829,;CDK13,synonymous_variant,p.%3D,ENST00000181839,;CDK13,upstream_gene_variant,,ENST00000484589,;	2027	100	93	SUCCESS
DBNL	28988	.	GRCh37	7	44084316	44084316	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	9	0	ENST00000448521.1:c.-21G>T		p.*7*	ENST00000448521	NM_001014436.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47579.1	.	MUTECT|MUSE	.	GCGGCGCGGAG	NONE	.	.	.	.	.	ENSP00000417653	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000468694	Transcript	.	.	ENSG00000136279	2696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DBNL_HUMAN	DBNL	HGNC	F2Z2V3_HUMAN	.	UPI000007147D	SNV	DBNL,5_prime_UTR_variant,,ENST00000448521,;DBNL,5_prime_UTR_variant,,ENST00000456905,;DBNL,5_prime_UTR_variant,,ENST00000494774,;DBNL,5_prime_UTR_variant,,ENST00000452943,;DBNL,5_prime_UTR_variant,,ENST00000468694,;DBNL,5_prime_UTR_variant,,ENST00000440166,;DBNL,upstream_gene_variant,,ENST00000490734,;LINC00957,downstream_gene_variant,,ENST00000441052,;LINC00957,downstream_gene_variant,,ENST00000416824,;DBNL,5_prime_UTR_variant,,ENST00000464762,;DBNL,5_prime_UTR_variant,,ENST00000458579,;DBNL,5_prime_UTR_variant,,ENST00000485932,;DBNL,5_prime_UTR_variant,,ENST00000441904,;DBNL,5_prime_UTR_variant,,ENST00000498733,;DBNL,5_prime_UTR_variant,,ENST00000429716,;DBNL,5_prime_UTR_variant,,ENST00000439815,;DBNL,5_prime_UTR_variant,,ENST00000441840,;DBNL,non_coding_transcript_exon_variant,,ENST00000439983,;DBNL,upstream_gene_variant,,ENST00000423561,;DBNL,upstream_gene_variant,,ENST00000411855,;RASA4CP,upstream_gene_variant,,ENST00000424092,;	7	9	15	SUCCESS
CAMK2B	816	.	GRCh37	7	44281927	44281927	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	70	0	ENST00000395749.2:c.709G>T	p.Glu237Ter	p.E237*	ENST00000395749	NM_001220.4	237	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5483.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCAGGGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF107,PROSITE_profiles:PS50011	.	.	ENSP00000379098	.	10/24	.	.	.	.	.	.	.	.	COSM1549766	10/24	PASS	ENST00000395749	Transcript	.	.	ENSG00000058404	1461	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	KCC2B_HUMAN	CAMK2B	HGNC	Q75LA8_HUMAN,Q75KE9_HUMAN,D3DVK8_HUMAN,A4D2J9_HUMAN	.	UPI0000164A3E	SNV	CAMK2B,stop_gained,p.Glu237Ter,ENST00000258682,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000395749,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000353625,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000457475,;CAMK2B,stop_gained,p.Glu108Ter,ENST00000502837,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000395747,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000346990,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000350811,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000440254,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000358707,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000347193,;CAMK2B,upstream_gene_variant,,ENST00000433930,;CAMK2B,downstream_gene_variant,,ENST00000421607,;CAMK2B,downstream_gene_variant,,ENST00000424197,;CAMK2B,downstream_gene_variant,,ENST00000415369,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000497584,;CAMK2B,downstream_gene_variant,,ENST00000470984,;CAMK2B,downstream_gene_variant,,ENST00000462128,;CAMK2B,downstream_gene_variant,,ENST00000497127,;CAMK2B,downstream_gene_variant,,ENST00000484972,;CAMK2B,downstream_gene_variant,,ENST00000495819,;CAMK2B,stop_gained,p.Glu237Ter,ENST00000353185,;CAMK2B,3_prime_UTR_variant,,ENST00000523845,;	786	70	61	SUCCESS
ABCA13	154664	.	GRCh37	7	48278858	48278858	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	56	0	ENST00000435803.1:c.918G>T	p.Leu306Phe	p.L306F	ENST00000435803	NM_152701.3	306	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS47584.1	918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGGAGAA	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	9/62	.	.	.	.	.	.	.	.	.	9/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Leu306Phe,ENST00000435803,;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	942	56	53	SUCCESS
DDC	1644	.	GRCh37	7	50595913	50595913	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	73	0	ENST00000357936.5:c.636T>A	p.Asp212Glu	p.D212E	ENST00000357936	NM_000790.3	212	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5511.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATCTGA	NONE	.	.	Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00282,hmmpanther:PTHR11999:SF69,hmmpanther:PTHR11999	.	.	ENSP00000403644	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000444124	Transcript	.	.	ENSG00000132437	2719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.89)	.	deleterious(0.03)	.	DDC_HUMAN	DDC	HGNC	C9JMP0_HUMAN	.	UPI000013F150	SNV	DDC,missense_variant,p.Asp134Glu,ENST00000426377,;DDC,missense_variant,p.Asp212Glu,ENST00000444124,;DDC,missense_variant,p.Asp93Glu,ENST00000430300,;DDC,missense_variant,p.Asp212Glu,ENST00000380984,;DDC,missense_variant,p.Asp212Glu,ENST00000357936,;DDC,intron_variant,,ENST00000431062,;AC018705.5,upstream_gene_variant,,ENST00000454521,;DDC,non_coding_transcript_exon_variant,,ENST00000489162,;DDC,missense_variant,p.Asp174Glu,ENST00000444733,;	837	73	72	SUCCESS
ZNF107	51427	.	GRCh37	7	64151634	64151634	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	37	0	ENST00000344930.3:c.-196G>C		p.*66*	ENST00000344930	NM_001013746.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5527.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGACATT	NONE	.	.	.	.	.	ENSP00000378789	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000395391	Transcript	.	.	ENSG00000196247	12887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN107_HUMAN	ZNF107	HGNC	Q9H3U2_HUMAN,C9JSF9_HUMAN	.	UPI000000DBC2	SNV	ZNF107,5_prime_UTR_variant,,ENST00000344930,;ZNF107,5_prime_UTR_variant,,ENST00000395391,;ZNF107,5_prime_UTR_variant,,ENST00000423627,;ZNF107,5_prime_UTR_variant,,ENST00000360117,;RP11-561N12.7,upstream_gene_variant,,ENST00000603878,;	1180	37	26	SUCCESS
PMS2CL	441194	.	GRCh37	7	6777095	6777095	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	38	0	ENST00000403974.2:n.474G>T		p.*158*	ENST00000403974				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGGGCAG	NONE	.	.	.	.	.	.	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000403974	Transcript	.	.	ENSG00000187953	30061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PMS2CL	HGNC	.	.	.	SNV	PMS2CL,non_coding_transcript_exon_variant,,ENST00000486256,;PMS2CL,upstream_gene_variant,,ENST00000431453,;PMS2CL,non_coding_transcript_exon_variant,,ENST00000403974,;	474	38	56	SUCCESS
HIP1	3092	.	GRCh37	7	75368213	75368213	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	38	0	ENST00000336926.6:c.26A>C	p.Lys9Thr	p.K9T	ENST00000336926	NM_005338.6	9	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS34669.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTTCATG	NONE	.	.	hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407	.	.	ENSP00000336747	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	deleterious_low_confidence(0.01)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Lys9Thr,ENST00000434438,;HIP1,missense_variant,p.Lys9Thr,ENST00000336926,;HIP1,non_coding_transcript_exon_variant,,ENST00000485723,;HIP1,non_coding_transcript_exon_variant,,ENST00000479835,;	53	38	26	SUCCESS
MROH5	389690	.	GRCh37	8	142505463	142505463	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	98	118	0	ENST00000521161.1:c.278A>T	p.His93Leu	p.H93L	ENST00000521161		93	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	.	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCGTGGATG	NONE	.	.	.	.	.	ENSP00000429440	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000521161	Transcript	.	.	ENSG00000226807	42976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	.	deleterious(0)	.	.	MROH5	HGNC	E5RII6_HUMAN	.	UPI0001E8F5FC	SNV	MROH5,missense_variant,p.His93Leu,ENST00000521161,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,missense_variant,p.His128Leu,ENST00000430863,;	561	118	157	SUCCESS
ARHGAP39	80728	.	GRCh37	8	145780976	145780976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	23	91	0	ENST00000276826.5:c.564T>A	p.Asp188Glu	p.D188E	ENST00000276826		188	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS34971.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAATCCCG	NONE	.	.	hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177	.	.	ENSP00000366522	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000377307	Transcript	.	.	ENSG00000147799	29351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.539)	.	tolerated(0.3)	.	RHG39_HUMAN	ARHGAP39	HGNC	B3KS00_HUMAN	.	UPI000021015B	SNV	ARHGAP39,missense_variant,p.Asp188Glu,ENST00000540274,;ARHGAP39,missense_variant,p.Asp188Glu,ENST00000276826,;ARHGAP39,missense_variant,p.Asp188Glu,ENST00000377307,;AC084125.2,downstream_gene_variant,,ENST00000538467,;	649	91	112	SUCCESS
EXTL3	2137	.	GRCh37	8	28575255	28575255	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200494893	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	69	0	ENST00000220562.4:c.1679C>T	p.Ala560Val	p.A560V	ENST00000220562	NM_001440.3	560	gCg/gTg	0	T:0	T:0	.	T:0.0014	.	T	A/V	protein_coding	YES	CCDS6070.1	1679	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCGGCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57	T:0	T:0.0002	ENSP00000220562	T:0	3/7	.	.	.	.	.	.	.	.	rs200494893,COSM184655	3/7	PASS	ENST00000220562	Transcript	.	T:0.0002	ENSG00000012232	3518	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	T:0	tolerated(0.34)	0,1	EXTL3_HUMAN	EXTL3	HGNC	E5RIV6_HUMAN,B4DG91_HUMAN	.	UPI000012A35D	SNV	EXTL3,missense_variant,p.Ala176Val,ENST00000523149,;EXTL3,missense_variant,p.Ala560Val,ENST00000220562,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,intron_variant,,ENST00000522698,;	2581	69	30	SUCCESS
SNTG1	54212	.	GRCh37	8	51617237	51617237	+	synonymous_variant	Silent	SNP	G	G	A	rs189241890	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	42	0	ENST00000518864.1:c.1116G>A	p.Val372=	p.V372=	ENST00000518864		372	gtG/gtA	0	.	A:0	.	A:0	.	A	V	protein_coding	YES	CCDS6147.1	1116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTGGAGCT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	A:0.001	.	ENSP00000429842	A:0	16/19	.	.	.	.	.	.	.	.	rs189241890	16/19	PASS	ENST00000522124	Transcript	.	A:0.0002	ENSG00000147481	13740	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SNTG1_HUMAN	SNTG1	HGNC	E5RIN0_HUMAN	.	UPI000004A0DD	SNV	SNTG1,synonymous_variant,p.%3D,ENST00000517473,;SNTG1,synonymous_variant,p.%3D,ENST00000518864,;SNTG1,synonymous_variant,p.%3D,ENST00000276467,;SNTG1,synonymous_variant,p.%3D,ENST00000522124,;SNTG1,3_prime_UTR_variant,,ENST00000520825,;SNTG1,3_prime_UTR_variant,,ENST00000524004,;	1777	42	70	SUCCESS
SULF1	23213	.	GRCh37	8	70551048	70551048	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	247	65	193	0	ENST00000260128.4:c.2506C>T	p.Gln836Ter	p.Q836*	ENST00000260128	NM_015170.2	836	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS6204.1	2506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCAAGGA	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	.	.	ENSP00000260128	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000260128	Transcript	.	.	ENSG00000137573	20391	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SULF1_HUMAN	SULF1	HGNC	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN	.	UPI000003FD82	SNV	SULF1,stop_gained,p.Gln836Ter,ENST00000419716,;SULF1,stop_gained,p.Gln836Ter,ENST00000260128,;SULF1,stop_gained,p.Gln836Ter,ENST00000402687,;SULF1,stop_gained,p.Gln836Ter,ENST00000458141,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,missense_variant,p.Ser129Leu,ENST00000531512,;SULF1,non_coding_transcript_exon_variant,,ENST00000530674,;SULF1,non_coding_transcript_exon_variant,,ENST00000526654,;SULF1,non_coding_transcript_exon_variant,,ENST00000532015,;	3223	193	312	SUCCESS
TERF1	7013	.	GRCh37	8	73944310	73944310	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	98	108	0	ENST00000276603.5:c.981A>G	p.Gln327=	p.Q327=	ENST00000276603	NM_017489.2	327	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS6211.1	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAACATGG	NONE	.	.	hmmpanther:PTHR21717,hmmpanther:PTHR21717:SF14,PIRSF_domain:PIRSF038016	.	.	ENSP00000276603	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000276603	Transcript	.	.	ENSG00000147601	11728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERF1_HUMAN	TERF1	HGNC	.	.	UPI000013DAD5	SNV	TERF1,synonymous_variant,p.%3D,ENST00000276602,;TERF1,synonymous_variant,p.%3D,ENST00000276603,;TERF1,non_coding_transcript_exon_variant,,ENST00000522018,;TERF1,non_coding_transcript_exon_variant,,ENST00000520783,;TERF1,non_coding_transcript_exon_variant,,ENST00000518961,;	1004	108	167	SUCCESS
GAPVD1	26130	.	GRCh37	9	128064751	128064751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	54	0	ENST00000394104.2:c.675G>T	p.Arg225Ser	p.R225S	ENST00000394104	NM_001282679.1	225	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS35138.1	675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGGTTCTC	NONE	.	.	PROSITE_profiles:PS50018,hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Gene3D:1.10.506.10,Pfam_domain:PF00616,Superfamily_domains:SSF48350	.	.	ENSP00000377665	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.487)	.	deleterious(0)	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,missense_variant,p.Arg225Ser,ENST00000297933,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000470056,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000394084,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000394104,;GAPVD1,missense_variant,p.Arg88Ser,ENST00000431329,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000394105,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000265956,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000394083,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000467750,;GAPVD1,missense_variant,p.Arg56Ser,ENST00000436712,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000495955,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000312123,;GAPVD1,downstream_gene_variant,,ENST00000461379,;RNU6-1020P,downstream_gene_variant,,ENST00000363684,;GAPVD1,missense_variant,p.Arg225Ser,ENST00000497580,;	835	54	54	SUCCESS
GRIN1	2902	.	GRCh37	9	140056377	140056377	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	31	0	ENST00000371561.3:c.1469T>C	p.Val490Ala	p.V490A	ENST00000371561	NM_007327.3	490	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS55354.1	1532	MUTECT|MUSE	.	GCAGGTGAACA	NONE	.	.	hmmpanther:PTHR18966:SF160,hmmpanther:PTHR18966,Pfam_domain:PF00497,Gene3D:3.40.190.10,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850,Prints_domain:PR00177	.	.	ENSP00000360608	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.332)	.	tolerated(0.23)	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,missense_variant,p.Val511Ala,ENST00000371555,;GRIN1,missense_variant,p.Val490Ala,ENST00000315048,;GRIN1,missense_variant,p.Val490Ala,ENST00000371561,;GRIN1,missense_variant,p.Val490Ala,ENST00000371550,;GRIN1,missense_variant,p.Val490Ala,ENST00000350902,;GRIN1,missense_variant,p.Val511Ala,ENST00000371553,;GRIN1,missense_variant,p.Val490Ala,ENST00000371559,;GRIN1,missense_variant,p.Val511Ala,ENST00000371546,;GRIN1,missense_variant,p.Val511Ala,ENST00000371560,;GRIN1,splice_region_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000473811,;GRIN1,downstream_gene_variant,,ENST00000485413,;GRIN1,upstream_gene_variant,,ENST00000460273,;	1538	31	21	SUCCESS
HAUS6	54801	.	GRCh37	9	19058467	19058467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	31	151	0	ENST00000380502.3:c.2298G>T	p.Lys766Asn	p.K766N	ENST00000380502	NM_017645.4	766	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS6489.1	2298	MUTECT|MUSE|VARSCANS	.	AAACTCTTAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16151	.	.	ENSP00000369871	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000380502	Transcript	.	.	ENSG00000147874	25948	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.44)	.	HAUS6_HUMAN	HAUS6	HGNC	Q5SYF9_HUMAN	.	UPI00000740C7	SNV	HAUS6,missense_variant,p.Lys630Asn,ENST00000380496,;HAUS6,missense_variant,p.Lys766Asn,ENST00000380502,;HAUS6,downstream_gene_variant,,ENST00000415524,;	2766	151	128	SUCCESS
IFNA1	3439	.	GRCh37	9	21440487	21440487	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	113	0	ENST00000276927.1:c.-20A>C		p.*7*	ENST00000276927	NM_024013.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6508.1	.	RADIA|MUTECT|MUSE	.	CCCAGAAGTAT	NONE	.	.	.	.	.	ENSP00000276927	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000276927	Transcript	.	.	ENSG00000197919	5417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFNA1_HUMAN	IFNA1	HGNC	L0N195_HUMAN	.	UPI000002C6D3	SNV	IFNA1,5_prime_UTR_variant,,ENST00000276927,;	48	113	80	SUCCESS
KCNV2	169522	.	GRCh37	9	2718181	2718181	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140256288	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	148	0	ENST00000382082.3:c.442G>A	p.Glu148Lys	p.E148K	ENST00000382082	NM_133497.3	148	Gaa/Aaa	0	A:0.0005	.	.	.	.	A	E/K	protein_coding	YES	CCDS6447.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CAGACGAATAC	NONE	byCluster	.	Prints_domain:PR01491,Prints_domain:PR01494,Prints_domain:PR00169,Superfamily_domains:SSF54695,Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	A:0	ENSP00000371514	.	1/2	.	.	.	.	.	.	.	.	CM080425,rs140256288,COSM3656729	1/2	PASS	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	0,0,1	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,missense_variant,p.Glu148Lys,ENST00000382082,;KIAA0020,downstream_gene_variant,,ENST00000490444,;	680	148	103	SUCCESS
TAF1L	138474	.	GRCh37	9	32631204	32631204	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	105	336	2	ENST00000242310.4:c.4374C>A	p.Tyr1458Ter	p.Y1458*	ENST00000242310	NM_153809.2	1458	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS35003.1	4374	RADIA|SOMATICSNIPER|VARSCANS	.	GATGGGTAGAG	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PROSITE_patterns:PS00633,Gene3D:1.20.920.10,Pfam_domain:PF00439,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,stop_gained,p.Tyr1458Ter,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	4464	338	288	SUCCESS
CNTFR	1271	.	GRCh37	9	34552230	34552230	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	20	0	ENST00000351266.4:c.1047C>A	p.Pro349=	p.P349=	ENST00000351266	NM_001842.4	349	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6558.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGGGTGC	NONE	.	.	.	.	.	ENSP00000368265	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000378980	Transcript	.	.	ENSG00000122756	2170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTFR_HUMAN	CNTFR	HGNC	Q5T8H6_HUMAN,B3KXJ2_HUMAN	.	UPI0000000DBD	SNV	CNTFR,synonymous_variant,p.%3D,ENST00000351266,;CNTFR,synonymous_variant,p.%3D,ENST00000378980,;CNTFR,downstream_gene_variant,,ENST00000417345,;	1341	20	15	SUCCESS
TRPM6	140803	.	GRCh37	9	77442785	77442785	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	99	0	ENST00000360774.1:c.750G>A	p.Leu250=	p.L250=	ENST00000360774	NM_017662.4	250	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS6647.1	750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACAGGAT	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	7/39	.	.	.	.	.	.	.	.	.	7/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,synonymous_variant,p.%3D,ENST00000449912,;TRPM6,synonymous_variant,p.%3D,ENST00000376871,;TRPM6,synonymous_variant,p.%3D,ENST00000359047,;TRPM6,synonymous_variant,p.%3D,ENST00000376872,;TRPM6,synonymous_variant,p.%3D,ENST00000451710,;TRPM6,synonymous_variant,p.%3D,ENST00000361255,;TRPM6,synonymous_variant,p.%3D,ENST00000360774,;TRPM6,synonymous_variant,p.%3D,ENST00000376864,;TRPM6,non_coding_transcript_exon_variant,,ENST00000483186,;	988	99	79	SUCCESS
SPRY3	10251	.	GRCh37	X	155003829	155003829	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	58	156	0	ENST00000302805.2:c.296T>C	p.Leu99Pro	p.L99P	ENST00000302805	NM_005840.1	99	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS14769.4	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTCTTGG	NONE	.	.	hmmpanther:PTHR12365:SF9,hmmpanther:PTHR12365	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,missense_variant,p.Leu99Pro,ENST00000302805,;	727	156	153	SUCCESS
IL9R	3581	.	GRCh37	X	155233487	155233487	+	synonymous_variant	Silent	SNP	C	C	T	rs776497608	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	35	100	0	ENST00000244174.5:c.400C>T	p.Leu134=	p.L134=	ENST00000244174	NM_002186.2	134	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14771.4	400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCTGGTG	NONE	.	.	hmmpanther:PTHR23037:SF26,hmmpanther:PTHR23037	.	.	ENSP00000244174	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000244174	Transcript	.	.	ENSG00000124334	6030	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL9R_HUMAN	IL9R	HGNC	.	.	UPI000016864A	SNV	IL9R,synonymous_variant,p.%3D,ENST00000369423,;IL9R,synonymous_variant,p.%3D,ENST00000244174,;IL9R,synonymous_variant,p.%3D,ENST00000540897,;IL9R,synonymous_variant,p.%3D,ENST00000424344,;IL9R,downstream_gene_variant,,ENST00000489233,;IL9R,upstream_gene_variant,,ENST00000494962,;AJ271736.10,upstream_gene_variant,,ENST00000483543,;	579	100	112	SUCCESS
SSX1	6756	.	GRCh37	X	48125757	48125757	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs782182489	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	158	222	0	ENST00000376919.3:c.502C>A	p.Leu168Met	p.L168M	ENST00000376919	NM_005635.3	168	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS14290.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGACTGCGT	NONE	byFrequency	.	Pfam_domain:PF09514,hmmpanther:PTHR14112:SF8,hmmpanther:PTHR14112	.	.	ENSP00000366118	.	7/8	.	.	.	.	.	.	.	.	rs782182489	7/8	PASS	ENST00000376919	Transcript	.	.	ENSG00000126752	11335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SSX1_HUMAN	SSX1	HGNC	.	.	UPI0000136052	SNV	SSX1,missense_variant,p.Leu168Met,ENST00000376919,;	638	222	202	SUCCESS
HEPH	9843	.	GRCh37	X	65408258	65408258	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	60	116	0	ENST00000343002.2:c.683T>C	p.Leu228Pro	p.L228P	ENST00000343002		228	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS14384.3	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTCCTCT	NONE	.	.	Superfamily_domains:SSF49503,Gene3D:2.60.40.420,hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127	.	.	ENSP00000430620	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000519389	Transcript	.	.	ENSG00000089472	4866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	HEPH_HUMAN	HEPH	HGNC	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN	.	UPI0001C06560	SNV	HEPH,missense_variant,p.Leu228Pro,ENST00000425114,;HEPH,missense_variant,p.Leu228Pro,ENST00000343002,;HEPH,missense_variant,p.Leu282Pro,ENST00000519389,;HEPH,missense_variant,p.Leu231Pro,ENST00000441993,;HEPH,missense_variant,p.Leu231Pro,ENST00000374727,;HEPH,missense_variant,p.Leu231Pro,ENST00000419594,;HEPH,5_prime_UTR_variant,,ENST00000336279,;	1024	117	91	SUCCESS
NAP1L2	4674	.	GRCh37	X	72434298	72434298	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	78	126	0	ENST00000373517.3:c.31T>C	p.Ser11Pro	p.S11P	ENST00000373517	NM_021963.3	11	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS14423.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGACAGCT	NONE	.	.	hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF36	.	.	ENSP00000362616	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373517	Transcript	.	.	ENSG00000186462	7638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.05)	.	NP1L2_HUMAN	NAP1L2	HGNC	B4E161_HUMAN	.	UPI00001303E8	SNV	NAP1L2,missense_variant,p.Ser11Pro,ENST00000373517,;NAP1L2,intron_variant,,ENST00000536638,;	387	126	107	SUCCESS
KLHL4	56062	.	GRCh37	X	86877345	86877345	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	77	158	1	ENST00000373119.4:c.1059G>T	p.Val353=	p.V353=	ENST00000373119	NM_019117.4	353	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS14456.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGGGGCA	NONE	.	.	SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF74,hmmpanther:PTHR24412	.	.	ENSP00000362206	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000373114	Transcript	.	.	ENSG00000102271	6355	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL4_HUMAN	KLHL4	HGNC	.	.	UPI000002ACC4	SNV	KLHL4,synonymous_variant,p.%3D,ENST00000373114,;KLHL4,synonymous_variant,p.%3D,ENST00000373119,;	1139	159	114	SUCCESS
PDZD7	79955	.	GRCh37	10	102783278	102783278	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	27	1	ENST00000370215.3:c.457C>T	p.Leu153=	p.L153=	ENST00000370215	NM_024895.4	153	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31269.1	457	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAGCACCT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF30,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000359234	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000370215	Transcript	1	.	ENSG00000186862	26257	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDZD7_HUMAN	PDZD7	HGNC	S4R3X4_HUMAN	.	UPI0000072FD2	SNV	PDZD7,synonymous_variant,p.%3D,ENST00000470414,;PDZD7,synonymous_variant,p.%3D,ENST00000370215,;PDZD7,upstream_gene_variant,,ENST00000433616,;PDZD7,3_prime_UTR_variant,,ENST00000474125,;PDZD7,non_coding_transcript_exon_variant,,ENST00000476306,;	683	28	29	SUCCESS
EIF3A	8661	.	GRCh37	10	120801558	120801558	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	76	0	ENST00000369144.3:c.3474C>T	p.Pro1158=	p.P1158=	ENST00000369144	NM_003750.2	1158	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7608.1	3474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTGGGAAA	NONE	.	.	.	.	.	ENSP00000358140	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000369144	Transcript	.	.	ENSG00000107581	3271	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF3A_HUMAN	EIF3A	HGNC	F5H335_HUMAN	.	UPI000012D311	SNV	EIF3A,synonymous_variant,p.%3D,ENST00000541549,;EIF3A,synonymous_variant,p.%3D,ENST00000369144,;	3602	76	88	SUCCESS
ZRANB1	54764	.	GRCh37	10	126631850	126631850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	35	0	ENST00000359653.4:c.788A>T	p.Asp263Val	p.D263V	ENST00000359653	NM_017580.2	263	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS7642.1	788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGATTGGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13367	.	.	ENSP00000352676	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000359653	Transcript	.	.	ENSG00000019995	18224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZRAN1_HUMAN	ZRANB1	HGNC	.	.	UPI000013C53E	SNV	ZRANB1,missense_variant,p.Asp263Val,ENST00000359653,;RP11-298J20.4,downstream_gene_variant,,ENST00000508096,;RP11-298J20.3,downstream_gene_variant,,ENST00000449984,;	1159	35	36	SUCCESS
C10orf90	118611	.	GRCh37	10	128118392	128118392	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776633093	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	81	1	ENST00000284694.7:c.1925G>A	p.Cys642Tyr	p.C642Y	ENST00000284694	NM_001004298.2	642	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS31310.1	1925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCACCGT	NONE	byFrequency	.	hmmpanther:PTHR21553:SF10,hmmpanther:PTHR21553,Pfam_domain:PF15309	.	.	ENSP00000284694	.	7/9	.	.	.	.	.	.	.	.	rs776633093	7/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.85)	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,missense_variant,p.Cys642Tyr,ENST00000432642,;C10orf90,missense_variant,p.Cys642Tyr,ENST00000284694,;C10orf90,missense_variant,p.Cys545Tyr,ENST00000454341,;C10orf90,missense_variant,p.Cys595Tyr,ENST00000356858,;C10orf90,missense_variant,p.Cys46Tyr,ENST00000480379,;C10orf90,missense_variant,p.Cys739Tyr,ENST00000544758,;C10orf90,missense_variant,p.Cys185Tyr,ENST00000424927,;	2046	82	83	SUCCESS
SPAG6	9576	.	GRCh37	10	22678098	22678099	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	96	38	64	0	ENST00000376624.3:c.862_863delinsG	p.Leu288GlyfsTer2	p.L288Gfs*2	ENST00000376624	NM_012443.3	288	CTg/Gg	0	.	.	.	.	.	G	L/X	protein_coding	YES	CCDS7139.1	862-863	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TCACAGCTGGTAG	NONE	.	.	hmmpanther:PTHR23314,hmmpanther:PTHR23314:SF1,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000365811	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000376624	Transcript	.	.	ENSG00000077327	11215	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAG6_HUMAN	SPAG6	HGNC	.	.	UPI0000073ED7	substitution	SPAG6,frameshift_variant,p.Leu288GlyfsTer2,ENST00000313311,;SPAG6,frameshift_variant,p.Leu288GlyfsTer2,ENST00000376624,;SPAG6,frameshift_variant,p.Leu364GlyfsTer2,ENST00000376603,;SPAG6,frameshift_variant,p.Leu263GlyfsTer2,ENST00000538630,;SPAG6,intron_variant,,ENST00000456231,;SPAG6,intron_variant,,ENST00000376601,;SPAG6,downstream_gene_variant,,ENST00000435326,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,intron_variant,,ENST00000488555,;SPAG6,upstream_gene_variant,,ENST00000487973,;SPAG6,upstream_gene_variant,,ENST00000490361,;	1004-1005	64	134	SUCCESS
DIP2C	22982	.	GRCh37	10	329266	329266	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs534481067	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	61	0	ENST00000280886.6:c.4240C>A	p.Arg1414Ser	p.R1414S	ENST00000280886	NM_014974.2	1414	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7054.1	4240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGTGCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000280886	.	35/37	.	.	.	.	.	.	.	.	rs534481067,COSM1165140	35/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	deleterious(0.02)	0,1	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,missense_variant,p.Arg1414Ser,ENST00000280886,;RNA5SP298,upstream_gene_variant,,ENST00000364991,;	4328	61	90	SUCCESS
PCDH15	65217	.	GRCh37	10	55755371	55755371	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	74	0	ENST00000320301.6:c.2868+38T>A		p.*956*	ENST00000320301	NM_033056.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44404.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCAGTACA	NONE	.	.	.	.	.	ENSP00000354950	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODIFIER	21/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,3_prime_UTR_variant,,ENST00000373955,;PCDH15,intron_variant,,ENST00000437009,;PCDH15,intron_variant,,ENST00000395433,;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000320301,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395432,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000361849,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,intron_variant,,ENST00000395430,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	.	74	58	SUCCESS
HERC4	26091	.	GRCh37	10	69750894	69750894	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	rs759602945	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	240	147	370	0	ENST00000395198.3:c.1331+3A>T		p.X444_splice	ENST00000395198	NM_022079.2	444		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41533.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTACCTA	NONE	.	.	.	.	.	ENSP00000378624	.	.	.	.	.	.	.	.	.	.	rs759602945	.	PASS	ENST00000395198	Transcript	.	.	ENSG00000148634	24521	.	.	LOW	12/25	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HERC4_HUMAN	HERC4	HGNC	D6RFK9_HUMAN	.	UPI00004C6F56	SNV	HERC4,splice_region_variant,,ENST00000373700,;HERC4,splice_region_variant,,ENST00000277817,;HERC4,splice_region_variant,,ENST00000412272,;HERC4,splice_region_variant,,ENST00000395187,;HERC4,splice_region_variant,,ENST00000395198,;HERC4,splice_region_variant,,ENST00000473533,;HERC4,splice_region_variant,,ENST00000427635,;HERC4,upstream_gene_variant,,ENST00000460168,;	.	370	387	SUCCESS
DUSP13	51207	.	GRCh37	10	76865447	76865447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769346082	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	47	0	ENST00000372702.3:c.547C>T	p.Arg183Trp	p.R183W	ENST00000372702		183	Cgg/Tgg	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31224.1	.	MUTECT|MUSE	.	ACCCCGCAGTT	NONE	byCluster	.	.	.	.	ENSP00000361785	.	.	.	.	.	.	.	.	.	.	rs769346082	.	PASS	ENST00000372700	Transcript	.	.	ENSG00000079393	19681	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DS13B_HUMAN	DUSP13	HGNC	.	.	UPI0000481AED	SNV	DUSP13,missense_variant,p.Ala20Val,ENST00000491677,;DUSP13,missense_variant,p.Ala102Val,ENST00000607487,;DUSP13,missense_variant,p.Arg183Trp,ENST00000372702,;DUSP13,missense_variant,p.Ala110Val,ENST00000473072,;SAMD8,intron_variant,,ENST00000447533,;DUSP13,intron_variant,,ENST00000372700,;DUSP13,intron_variant,,ENST00000607131,;DUSP13,intron_variant,,ENST00000607009,;DUSP13,intron_variant,,ENST00000494588,;DUSP13,intron_variant,,ENST00000479884,;DUSP13,intron_variant,,ENST00000308475,;DUSP13,intron_variant,,ENST00000394707,;	.	47	46	SUCCESS
TUBB8	347688	.	GRCh37	10	93331	93331	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	95	0	ENST00000309812.4:c.1001A>G	p.Gln334Arg	p.Q334R	ENST00000309812	NM_177987.2	334	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7051.1	1001	MUTECT|MUSE	.	TATCTTGAATG	NONE	.	.	Prints_domain:PR01163,Superfamily_domains:SSF55307,SMART_domains:SM00865,Pfam_domain:PF03953,Gene3D:3.30.1330.20,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,missense_variant,p.Gln262Arg,ENST00000447903,;TUBB8,missense_variant,p.Gln334Arg,ENST00000309812,;TUBB8,downstream_gene_variant,,ENST00000332708,;TUBB8,downstream_gene_variant,,ENST00000413237,;TUBB8,downstream_gene_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	1064	95	87	SUCCESS
ENTPD1	953	.	GRCh37	10	97602202	97602202	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	117	0	ENST00000371205.4:c.364C>A	p.Gln122Lys	p.Q122K	ENST00000371205		122	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS53556.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCAAGAG	NONE	.	.	hmmpanther:PTHR11782:SF32,hmmpanther:PTHR11782,Pfam_domain:PF01150	.	.	ENSP00000360250	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000371207	Transcript	1	.	ENSG00000138185	3363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.22)	.	ENTP1_HUMAN	ENTPD1	HGNC	.	.	UPI0000EE3B3A	SNV	ENTPD1,missense_variant,p.Gln129Lys,ENST00000453258,;ENTPD1,missense_variant,p.Gln122Lys,ENST00000371205,;ENTPD1,missense_variant,p.Gln14Lys,ENST00000543964,;ENTPD1,missense_variant,p.Gln134Lys,ENST00000371207,;ENTPD1,intron_variant,,ENST00000539125,;ENTPD1,intron_variant,,ENST00000371203,;ENTPD1-AS1,intron_variant,,ENST00000416301,;RP11-429G19.3,intron_variant,,ENST00000433113,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000490659,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000483213,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000494070,;ENTPD1,downstream_gene_variant,,ENST00000461927,;ENTPD1,upstream_gene_variant,,ENST00000422161,;ENTPD1,non_coding_transcript_exon_variant,,ENST00000371206,;	463	117	125	SUCCESS
GRIA4	2893	.	GRCh37	11	105797567	105797567	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	51	123	1	ENST00000282499.5:c.1948C>G	p.Arg650Gly	p.R650G	ENST00000282499	NM_000829.3	650	Cga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS8333.1	1948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCGAATG	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Arg650Gly,ENST00000282499,;GRIA4,missense_variant,p.Arg650Gly,ENST00000530497,;GRIA4,missense_variant,p.Arg650Gly,ENST00000393127,;GRIA4,missense_variant,p.Arg650Gly,ENST00000525187,;	2394	124	135	SUCCESS
PKNOX2	63876	.	GRCh37	11	125267956	125267956	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	63	0	ENST00000298282.9:c.586C>G	p.Gln196Glu	p.Q196E	ENST00000298282	NM_022062.2	196	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS41730.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACAGGTA	NONE	.	.	hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850	.	.	ENSP00000298282	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000298282	Transcript	.	.	ENSG00000165495	16714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.31)	.	PKNX2_HUMAN	PKNOX2	HGNC	H0YLX0_HUMAN,E9PRB6_HUMAN,E9PKL2_HUMAN,B7ZAF3_HUMAN	.	UPI000023271E	SNV	PKNOX2,missense_variant,p.Gln196Glu,ENST00000298282,;PKNOX2,missense_variant,p.Gln132Glu,ENST00000542175,;PKNOX2,splice_region_variant,,ENST00000531116,;PKNOX2,splice_region_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000557814,;PKNOX2,downstream_gene_variant,,ENST00000558729,;PKNOX2,downstream_gene_variant,,ENST00000559662,;PKNOX2,splice_region_variant,,ENST00000532623,;PKNOX2,splice_region_variant,,ENST00000526955,;	857	63	79	SUCCESS
MUC5B	727897	.	GRCh37	11	1265754	1265754	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	66	170	0	ENST00000529681.1:c.7644C>A	p.Thr2548=	p.T2548=	ENST00000529681	NM_002458.2	2548	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS44515.2	7644	MUSE|VARSCANS	.	ACCACCTGGAC	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	7702	170	216	SUCCESS
NTM	50863	.	GRCh37	11	132205003	132205003	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs772052989	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	28	0	ENST00000374786.1:c.998T>A	p.Leu333Gln	p.L333Q	ENST00000374786	NM_001144058.1	333	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44777.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGCCTC	BUFFER|p.C329C|c.987C>T|3,BUFFER|p.C329C|c.987C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19831:SF46,hmmpanther:PTHR19831	.	.	ENSP00000396722	.	8/8	.	.	.	.	.	.	.	.	rs772052989	8/8	PASS	ENST00000425719	Transcript	.	.	ENSG00000182667	17941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.726)	.	deleterious(0.04)	.	NTRI_HUMAN	NTM	HGNC	.	.	UPI00001A58B9	SNV	NTM,missense_variant,p.Leu108Gln,ENST00000457381,;NTM,missense_variant,p.Leu333Gln,ENST00000374791,;NTM,missense_variant,p.Leu344Gln,ENST00000539799,;NTM,missense_variant,p.Leu344Gln,ENST00000425719,;NTM,missense_variant,p.Leu333Gln,ENST00000374786,;NTM,missense_variant,p.Leu335Gln,ENST00000427481,;NTM,non_coding_transcript_exon_variant,,ENST00000483174,;NTM,non_coding_transcript_exon_variant,,ENST00000496198,;NTM,non_coding_transcript_exon_variant,,ENST00000474900,;NTM,downstream_gene_variant,,ENST00000496094,;	1051	28	30	SUCCESS
OPCML	4978	.	GRCh37	11	132526997	132526997	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	33	115	0	ENST00000331898.7:c.385del	p.His129ThrfsTer2	p.H129Tfs*2	ENST00000331898	NM_002545.3	129	Cac/ac	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS8492.1	385	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAGGTGAACCC	NONE	.	.	Superfamily_domains:SSF48726,Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831	.	.	ENSP00000330862	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000331898	Transcript	.	.	ENSG00000183715	8143	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OPCM_HUMAN	OPCML	HGNC	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN	.	UPI0000055AE0	deletion	OPCML,frameshift_variant,p.His88ThrfsTer2,ENST00000374778,;OPCML,frameshift_variant,p.His129ThrfsTer2,ENST00000541867,;OPCML,frameshift_variant,p.His122ThrfsTer2,ENST00000524381,;OPCML,frameshift_variant,p.His129ThrfsTer2,ENST00000331898,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;OPCML,non_coding_transcript_exon_variant,,ENST00000525412,;	964	115	159	SUCCESS
NCAPD3	23310	.	GRCh37	11	134076627	134076627	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	65	0	ENST00000534548.2:c.883G>T	p.Val295Phe	p.V295F	ENST00000534548	NM_015261.2	295	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS31723.1	883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGACCTAGA	NONE	.	.	PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222	.	.	ENSP00000433681	.	8/35	.	.	.	.	.	.	.	.	.	8/35	PASS	ENST00000534548	Transcript	.	.	ENSG00000151503	28952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	deleterious(0.02)	.	CNDD3_HUMAN	NCAPD3	HGNC	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN	.	UPI00001C1EFE	SNV	NCAPD3,missense_variant,p.Val295Phe,ENST00000534548,;NCAPD3,missense_variant,p.Val295Phe,ENST00000525964,;NCAPD3,missense_variant,p.Val295Phe,ENST00000534532,;NCAPD3,downstream_gene_variant,,ENST00000528065,;NCAPD3,downstream_gene_variant,,ENST00000533155,;	948	65	76	SUCCESS
KRTAP5-2	440021	.	GRCh37	11	1619366	1619366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	30	0	ENST00000412090.1:c.115G>A	p.Gly39Ser	p.G39S	ENST00000412090	NM_001004325.1	39	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS31331.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCACAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF29	.	.	ENSP00000400041	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000412090	Transcript	.	.	ENSG00000205867	23597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KRA52_HUMAN	KRTAP5-2	HGNC	.	.	UPI0000241C20	SNV	KRTAP5-2,missense_variant,p.Gly39Ser,ENST00000412090,;KRTAP5-AS1,non_coding_transcript_exon_variant,,ENST00000424148,;KRTAP5-AS1,downstream_gene_variant,,ENST00000534077,;KRTAP5-AS1,downstream_gene_variant,,ENST00000532922,;KRTAP5-AS1,downstream_gene_variant,,ENST00000524947,;	159	30	24	SUCCESS
LSP1	4046	.	GRCh37	11	1887904	1887904	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	63	0	ENST00000311604.3:c.54-13413T>C		p.*18*	ENST00000311604	NM_002339.2	67		0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS58110.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGTTTTCC	NONE	.	.	.	.	.	ENSP00000371194	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000381775	Transcript	.	.	ENSG00000130592	6707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	LSP1_HUMAN	LSP1	HGNC	Q9UEV8_HUMAN,Q9UEV7_HUMAN,E9PBD8_HUMAN,C9JNQ1_HUMAN,C9JKF7_HUMAN,C9J9B9_HUMAN	.	UPI000013F8D0	SNV	LSP1,missense_variant,p.Val67Ala,ENST00000381775,;LSP1,intron_variant,,ENST00000446808,;LSP1,intron_variant,,ENST00000311604,;LSP1,intron_variant,,ENST00000421485,;LSP1,upstream_gene_variant,,ENST00000418975,;LSP1,upstream_gene_variant,,ENST00000406638,;LSP1,upstream_gene_variant,,ENST00000429923,;LSP1,upstream_gene_variant,,ENST00000457279,;LSP1,upstream_gene_variant,,ENST00000405957,;LSP1,upstream_gene_variant,,ENST00000417766,;LSP1,upstream_gene_variant,,ENST00000451814,;AC051649.12,downstream_gene_variant,,ENST00000509204,;LSP1,upstream_gene_variant,,ENST00000472974,;	308	63	54	SUCCESS
OR8K3	219473	.	GRCh37	11	56085886	56085886	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759115963	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	34	77	0	ENST00000312711.1:c.104A>G	p.Tyr35Cys	p.Y35C	ENST00000312711	NM_001005202.1	35	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS31527.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTATGTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323555	.	1/1	.	.	.	.	.	.	.	.	rs759115963	1/1	PASS	ENST00000312711	Transcript	.	.	ENSG00000181689	15313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.574)	.	deleterious_low_confidence(0)	.	OR8K3_HUMAN	OR8K3	HGNC	.	.	UPI0000041BE7	SNV	OR8K3,missense_variant,p.Tyr35Cys,ENST00000312711,;	104	77	65	SUCCESS
TENM4	26011	.	GRCh37	11	78369307	78369307	+	synonymous_variant	Silent	SNP	C	C	G	rs769658072	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	42	0	ENST00000278550.7:c.8106G>C	p.Ala2702=	p.A2702=	ENST00000278550	NM_001098816.2	2702	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS44688.1	8106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGCTTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Pfam_domain:PF15636,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	.	.	ENSP00000278550	.	34/34	.	.	.	.	.	.	.	.	rs769658072,COSM296606,COSM296607	34/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,synonymous_variant,p.%3D,ENST00000278550,;TENM4,intron_variant,,ENST00000530738,;	8569	42	63	SUCCESS
FAT3	120114	.	GRCh37	11	92616284	92616284	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	28	0	ENST00000298047.6:c.12662T>C	p.Val4221Ala	p.V4221A	ENST00000298047		4221	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	12662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGTCTACC	CODON|p.V4221I|c.12661G>A|3,CODON|p.V4221I|c.12661G>A|3,CODON|p.V796I|c.2386G>A|3	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Val556Ala,ENST00000533797,;FAT3,missense_variant,p.Val4221Ala,ENST00000298047,;FAT3,missense_variant,p.Val4221Ala,ENST00000409404,;FAT3,missense_variant,p.Val4071Ala,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	12679	28	42	SUCCESS
C12orf42	374470	.	GRCh37	12	103762676	103762676	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	68	240	0	ENST00000378113.2:c.248T>A	p.Leu83Gln	p.L83Q	ENST00000378113	NM_001278419.1	83	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS44963.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCAGAAAG	NONE	.	.	.	.	.	ENSP00000367353	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000378113	Transcript	.	.	ENSG00000179088	24729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	CL042_HUMAN	C12orf42	HGNC	F8W1Y6_HUMAN,F8VV63_HUMAN	.	UPI00001D7906	SNV	C12orf42,missense_variant,p.Leu83Gln,ENST00000378113,;C12orf42,missense_variant,p.Leu83Gln,ENST00000552578,;C12orf42,missense_variant,p.Leu16Gln,ENST00000548048,;C12orf42,missense_variant,p.Leu83Gln,ENST00000315192,;C12orf42,missense_variant,p.Leu83Gln,ENST00000548883,;C12orf42,non_coding_transcript_exon_variant,,ENST00000546526,;C12orf42,non_coding_transcript_exon_variant,,ENST00000550650,;C12orf42,non_coding_transcript_exon_variant,,ENST00000548789,;C12orf42,non_coding_transcript_exon_variant,,ENST00000550497,;C12orf42,non_coding_transcript_exon_variant,,ENST00000552977,;C12orf42,missense_variant,p.Leu83Gln,ENST00000551134,;C12orf42,missense_variant,p.Leu83Gln,ENST00000547347,;	474	240	229	SUCCESS
WSCD2	9671	.	GRCh37	12	108589818	108589818	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	56	0	ENST00000332082.4:c.209T>C	p.Met70Thr	p.M70T	ENST00000332082		70	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS41828.1	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACATGCATC	NONE	.	.	hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5	.	.	ENSP00000331933	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000332082	Transcript	.	.	ENSG00000075035	29117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.68)	.	WSCD2_HUMAN	WSCD2	HGNC	F8W030_HUMAN	.	UPI00001C1F3A	SNV	WSCD2,missense_variant,p.Met70Thr,ENST00000332082,;WSCD2,missense_variant,p.Met70Thr,ENST00000547525,;WSCD2,missense_variant,p.Met70Thr,ENST00000261400,;WSCD2,missense_variant,p.Met70Thr,ENST00000549903,;WSCD2,intron_variant,,ENST00000551638,;WSCD2,downstream_gene_variant,,ENST00000551106,;WSCD2,downstream_gene_variant,,ENST00000550529,;WSCD2,downstream_gene_variant,,ENST00000546811,;WSCD2,downstream_gene_variant,,ENST00000551057,;WSCD2,downstream_gene_variant,,ENST00000552195,;WSCD2,downstream_gene_variant,,ENST00000551734,;WSCD2,downstream_gene_variant,,ENST00000546401,;WSCD2,upstream_gene_variant,,ENST00000547185,;	1027	56	42	SUCCESS
OVCH1	341350	.	GRCh37	12	29628110	29628110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	41	128	0	ENST00000318184.5:c.1484G>T	p.Gly495Val	p.G495V	ENST00000318184	NM_183378.2	495	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	.	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTCCACAA	NONE	.	.	PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000326708	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	tolerated(0.08)	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,missense_variant,p.Gly495Val,ENST00000318184,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	1484	128	136	SUCCESS
OVCH1	341350	.	GRCh37	12	29628111	29628111	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	126	0	ENST00000318184.5:c.1483G>T	p.Gly495Ter	p.G495*	ENST00000318184	NM_183378.2	495	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	.	1483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCACAAA	NONE	.	.	PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000326708	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,stop_gained,p.Gly495Ter,ENST00000318184,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	1483	126	135	SUCCESS
LRRK2	120892	.	GRCh37	12	40651100	40651100	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	124	1	ENST00000298910.7:c.1339G>T	p.Glu447Ter	p.E447*	ENST00000298910	NM_198578.3	447	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS31774.1	1339	RADIA|SOMATICSNIPER|VARSCANS	.	TTTTGGAGTTA	NONE	.	.	hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000298910	.	12/51	.	.	.	.	.	.	.	.	.	12/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,stop_gained,p.Glu447Ter,ENST00000343742,;LRRK2,stop_gained,p.Glu447Ter,ENST00000298910,;LRRK2,intron_variant,,ENST00000416796,;	1397	125	130	SUCCESS
CCDC65	85478	.	GRCh37	12	49298898	49298898	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	48	0	ENST00000320516.4:c.300+2T>C		p.X100_splice	ENST00000320516	NM_033124.4	100		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8772.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTAGGCA	NONE	.	.	.	.	.	ENSP00000312706	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320516	Transcript	.	.	ENSG00000139537	29937	.	.	HIGH	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD65_HUMAN	CCDC65	HGNC	B4DXQ7_HUMAN	.	UPI00001408DA	SNV	CCDC65,splice_donor_variant,,ENST00000320516,;CCDC65,splice_donor_variant,,ENST00000552942,;CCDC65,splice_donor_variant,,ENST00000266984,;RP11-302B13.5,intron_variant,,ENST00000398092,;CCDC65,splice_donor_variant,,ENST00000547861,;RP11-302B13.1,upstream_gene_variant,,ENST00000489971,;	.	48	35	SUCCESS
HOXC8	3224	.	GRCh37	12	54403335	54403335	+	synonymous_variant	Silent	SNP	T	T	C	rs777616754	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	58	0	ENST00000040584.4:c.267T>C	p.Tyr89=	p.Y89=	ENST00000040584	NM_022658.3	89	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS8870.1	267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATGGCTA	NONE	byFrequency	.	hmmpanther:PTHR24326:SF126,hmmpanther:PTHR24326	.	.	ENSP00000040584	.	1/2	.	.	.	.	.	.	.	.	rs777616754	1/2	PASS	ENST00000040584	Transcript	.	.	ENSG00000037965	5129	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC8_HUMAN	HOXC8	HGNC	.	.	UPI000012CF77	SNV	HOXC8,synonymous_variant,p.%3D,ENST00000040584,;HOXC6,intron_variant,,ENST00000509328,;HOXC6,intron_variant,,ENST00000504315,;RP11-834C11.12,intron_variant,,ENST00000513209,;	504	58	59	SUCCESS
GLS2	27165	.	GRCh37	12	56868406	56868406	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	21	0	ENST00000311966.4:c.1146T>C	p.Ser382=	p.S382=	ENST00000311966	NM_001280797.1	382	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS8921.1	1146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCACTCAG	NONE	.	.	Superfamily_domains:SSF56601,Pfam_domain:PF04960,TIGRFAM_domain:TIGR03814,Gene3D:3.40.710.10,hmmpanther:PTHR12544,hmmpanther:PTHR12544:SF29,HAMAP:MF_00313	.	.	ENSP00000310447	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000311966	Transcript	.	.	ENSG00000135423	29570	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLSL_HUMAN	GLS2	HGNC	Q0VD99_HUMAN	.	UPI0000061E10	SNV	GLS2,synonymous_variant,p.%3D,ENST00000311966,;SPRYD4,downstream_gene_variant,,ENST00000338146,;GLS2,downstream_gene_variant,,ENST00000461077,;GLS2,downstream_gene_variant,,ENST00000539272,;GLS2,non_coding_transcript_exon_variant,,ENST00000476991,;GLS2,3_prime_UTR_variant,,ENST00000424141,;GLS2,3_prime_UTR_variant,,ENST00000479952,;GLS2,3_prime_UTR_variant,,ENST00000486433,;GLS2,non_coding_transcript_exon_variant,,ENST00000496006,;GLS2,downstream_gene_variant,,ENST00000494345,;GLS2,downstream_gene_variant,,ENST00000483347,;GLS2,downstream_gene_variant,,ENST00000494474,;GLS2,downstream_gene_variant,,ENST00000486896,;GLS2,upstream_gene_variant,,ENST00000390288,;GLS2,downstream_gene_variant,,ENST00000491880,;GLS2,downstream_gene_variant,,ENST00000471282,;	1425	21	26	SUCCESS
LRP1	4035	.	GRCh37	12	57603645	57603645	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1041474728	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	26	0	ENST00000243077.3:c.12433C>T	p.Pro4145Ser	p.P4145S	ENST00000243077	NM_002332.2	4145	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS8932.1	12433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCCGAA	NONE	.	.	Gene3D:2.120.10.30,Superfamily_domains:SSF63825	.	.	ENSP00000243077	.	80/89	.	.	.	.	.	.	.	.	.	80/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	SNV	LRP1,missense_variant,p.Pro4145Ser,ENST00000243077,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000451724,;	12899	26	24	SUCCESS
MDM1	56890	.	GRCh37	12	68715374	68715374	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	64	0	ENST00000303145.7:c.836C>T	p.Ala279Val	p.A279V	ENST00000303145	NM_017440.4	279	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8983.1	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGCTTCC	NONE	.	.	Pfam_domain:PF15501,hmmpanther:PTHR32078	.	.	ENSP00000302537	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000303145	Transcript	.	.	ENSG00000111554	29917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	tolerated(0.21)	.	MDM1_HUMAN	MDM1	HGNC	F5H804_HUMAN	.	UPI00001FC70C	SNV	MDM1,missense_variant,p.Ala274Val,ENST00000541686,;MDM1,missense_variant,p.Ala234Val,ENST00000411698,;MDM1,missense_variant,p.Ala279Val,ENST00000303145,;MDM1,5_prime_UTR_variant,,ENST00000540418,;MDM1,downstream_gene_variant,,ENST00000393543,;MDM1,downstream_gene_variant,,ENST00000430606,;MDM1,non_coding_transcript_exon_variant,,ENST00000540476,;MDM1,downstream_gene_variant,,ENST00000545724,;MDM1,non_coding_transcript_exon_variant,,ENST00000536997,;MDM1,non_coding_transcript_exon_variant,,ENST00000538454,;	923	64	85	SUCCESS
NECAP1	25977	.	GRCh37	12	8242584	8242584	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	70	0	ENST00000339754.5:c.148A>T	p.Thr50Ser	p.T50S	ENST00000339754	NM_015509.3	50	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS8589.1	148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCACTTCA	NONE	.	.	hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1,Pfam_domain:PF07933,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000341737	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000339754	Transcript	.	.	ENSG00000089818	24539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious(0.04)	.	NECP1_HUMAN	NECAP1	HGNC	F5H2U7_HUMAN,A8K3C2_HUMAN	.	UPI000006EB8D	SNV	NECAP1,missense_variant,p.Thr50Ser,ENST00000339754,;NECAP1,5_prime_UTR_variant,,ENST00000540083,;NECAP1,missense_variant,p.Thr50Ser,ENST00000450991,;NECAP1,missense_variant,p.Thr50Ser,ENST00000541948,;NECAP1,non_coding_transcript_exon_variant,,ENST00000546181,;NECAP1,non_coding_transcript_exon_variant,,ENST00000544891,;NECAP1,non_coding_transcript_exon_variant,,ENST00000545807,;NECAP1,non_coding_transcript_exon_variant,,ENST00000542095,;NECAP1,upstream_gene_variant,,ENST00000537796,;	226	70	49	SUCCESS
COL4A2	1284	.	GRCh37	13	111090978	111090978	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	103	0	ENST00000360467.5:c.875A>C	p.Lys292Thr	p.K292T	ENST00000360467	NM_001846.2	292	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS41907.1	875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAAGGGAG	NONE	.	.	hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	.	.	ENSP00000353654	.	15/48	.	.	.	.	.	.	.	.	.	15/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,missense_variant,p.Lys292Thr,ENST00000360467,;	1181	103	104	SUCCESS
IFT88	8100	.	GRCh37	13	21175874	21175874	+	synonymous_variant	Silent	SNP	A	A	G	rs758388595	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	51	197	0	ENST00000319980.6:c.870A>G	p.Thr290=	p.T290=	ENST00000319980	NM_175605.3	290	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS31944.1	870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACATTTAT	NONE	.	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF6,hmmpanther:PTHR23083,Gene3D:1.25.40.10,Pfam_domain:PF13424,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000323580	.	14/28	.	.	.	.	.	.	.	.	rs758388595	14/28	PASS	ENST00000319980	Transcript	.	.	ENSG00000032742	20606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFT88_HUMAN	IFT88	HGNC	F6SRW8_HUMAN	.	UPI0000160108	SNV	IFT88,synonymous_variant,p.%3D,ENST00000319980,;IFT88,synonymous_variant,p.%3D,ENST00000351808,;IFT88,synonymous_variant,p.%3D,ENST00000382778,;IFT88,synonymous_variant,p.%3D,ENST00000537103,;IFT88,upstream_gene_variant,,ENST00000461115,;	1197	197	172	SUCCESS
HS6ST3	266722	.	GRCh37	13	97485041	97485041	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	75	0	ENST00000376705.2:c.1005C>T	p.Thr335=	p.T335=	ENST00000376705	NM_153456.3	335	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9481.1	1005	MUTECT|MUSE	.	AACACCATCCT	NONE	.	.	hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF3,Pfam_domain:PF03567	.	.	ENSP00000365895	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376705	Transcript	.	.	ENSG00000185352	19134	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H6ST3_HUMAN	HS6ST3	HGNC	B3KX95_HUMAN	.	UPI00001AF933	SNV	HS6ST3,synonymous_variant,p.%3D,ENST00000376705,;	1029	75	48	SUCCESS
MTA1	9112	.	GRCh37	14	105931048	105931048	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	44	0	ENST00000331320.7:c.1382C>G	p.Pro461Arg	p.P461R	ENST00000331320	NM_004689.3	461	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS32169.1	1382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCCAAGT	NONE	.	.	hmmpanther:PTHR10865:SF5,hmmpanther:PTHR10865	.	.	ENSP00000333633	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000331320	Transcript	.	.	ENSG00000182979	7410	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.894)	.	deleterious(0.04)	.	MTA1_HUMAN	MTA1	HGNC	Q86TR6_HUMAN,F8VSM3_HUMAN,F8VPC5_HUMAN	.	UPI00003669FD	SNV	MTA1,missense_variant,p.Pro444Arg,ENST00000405646,;MTA1,missense_variant,p.Pro461Arg,ENST00000331320,;MTA1,missense_variant,p.Pro461Arg,ENST00000406191,;MTA1,missense_variant,p.Pro253Arg,ENST00000434050,;MTA1,5_prime_UTR_variant,,ENST00000435036,;MTA1,upstream_gene_variant,,ENST00000494981,;MTA1,downstream_gene_variant,,ENST00000550551,;MTA1,downstream_gene_variant,,ENST00000498644,;MTA1,upstream_gene_variant,,ENST00000426567,;RP11-521B24.5,downstream_gene_variant,,ENST00000552675,;MTA1,3_prime_UTR_variant,,ENST00000438610,;MTA1,non_coding_transcript_exon_variant,,ENST00000490198,;MTA1,non_coding_transcript_exon_variant,,ENST00000469140,;MTA1,upstream_gene_variant,,ENST00000481206,;MTA1,downstream_gene_variant,,ENST00000424723,;MTA1,downstream_gene_variant,,ENST00000481012,;MTA1,downstream_gene_variant,,ENST00000550808,;MTA1,upstream_gene_variant,,ENST00000552286,;MTA1,upstream_gene_variant,,ENST00000481635,;	1596	44	67	SUCCESS
KIAA0125	0	.	GRCh37	14	106388399	106388399	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	124	211	0	ENST00000429431.1:c.313-1G>T		p.X105_splice	ENST00000429431		105		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGCAAGA	NONE	.	.	.	.	.	ENSP00000410360	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429431	Transcript	.	.	ENSG00000226777	19955	.	.	HIGH	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KIAA0125	HGNC	Q05DB7_HUMAN	.	UPI0000D49656	SNV	KIAA0125,splice_acceptor_variant,,ENST00000429431,;KIAA0125,splice_acceptor_variant,,ENST00000449410,;IGHD1-1,upstream_gene_variant,,ENST00000454908,;KIAA0125,splice_acceptor_variant,,ENST00000482999,;KIAA0125,splice_acceptor_variant,,ENST00000489911,;KIAA0125,splice_acceptor_variant,,ENST00000484511,;	.	211	306	SUCCESS
SRP54	6729	.	GRCh37	14	35492189	35492189	+	synonymous_variant	Silent	SNP	G	G	C	rs781030061	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	73	0	ENST00000216774.6:c.1230G>C	p.Ser410=	p.S410=	ENST00000216774	NM_003136.3	410	tcG/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9652.1	1230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCGGGTGT	BUFFER|p.R408R|c.1224A>G|3	.	.	HAMAP:MF_00306,hmmpanther:PTHR11564:SF5,hmmpanther:PTHR11564,TIGRFAM_domain:TIGR01425,Pfam_domain:PF02978,Gene3D:1.10.260.30,Superfamily_domains:SSF47446	.	.	ENSP00000451818	.	15/17	.	.	.	.	.	.	.	.	rs781030061,COSM177116	15/17	PASS	ENST00000556994	Transcript	.	.	ENSG00000100883	11301	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SRP54_HUMAN	SRP54	HGNC	G3V4F7_HUMAN,G3V480_HUMAN,G3V346_HUMAN	.	UPI0000135EE0	SNV	SRP54,synonymous_variant,p.%3D,ENST00000556994,;SRP54,synonymous_variant,p.%3D,ENST00000546080,;SRP54,synonymous_variant,p.%3D,ENST00000555557,;SRP54,synonymous_variant,p.%3D,ENST00000216774,;SRP54,downstream_gene_variant,,ENST00000556445,;SRP54,upstream_gene_variant,,ENST00000556992,;SRP54,downstream_gene_variant,,ENST00000553923,;	1627	73	65	SUCCESS
LRFN5	145581	.	GRCh37	14	42356423	42356423	+	synonymous_variant	Silent	SNP	C	C	A	rs140770648	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	53	0	ENST00000298119.4:c.595C>A	p.Arg199=	p.R199=	ENST00000298119	NM_152447.3	199	Cgg/Agg	0	.	A:0.0008	.	A:0	.	A	R	protein_coding	YES	CCDS9678.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTCGGTTA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS51450	A:0	.	ENSP00000298119	A:0	3/6	.	.	.	.	.	.	.	.	rs140770648,COSM955707	3/6	PASS	ENST00000298119	Transcript	.	A:0.0002	ENSG00000165379	20360	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	LRFN5_HUMAN	LRFN5	HGNC	.	.	UPI000000DA1E	SNV	LRFN5,synonymous_variant,p.%3D,ENST00000298119,;LRFN5,synonymous_variant,p.%3D,ENST00000554120,;LRFN5,synonymous_variant,p.%3D,ENST00000554171,;	1784	53	49	SUCCESS
ABHD12B	145447	.	GRCh37	14	51368576	51368576	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	94	304	2	ENST00000337334.2:c.810T>A	p.Arg270=	p.R270=	ENST00000337334	NM_001206673.1	270	cgT/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS55916.1	810	RADIA|SOMATICSNIPER|VARSCANS	.	TTACGTACACT	NONE	.	.	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF32,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000336693	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000337334	Transcript	.	.	ENSG00000131969	19837	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AB12B_HUMAN	ABHD12B	HGNC	.	.	UPI00001ADDF5	SNV	ABHD12B,synonymous_variant,p.%3D,ENST00000395752,;ABHD12B,synonymous_variant,p.%3D,ENST00000353130,;ABHD12B,synonymous_variant,p.%3D,ENST00000337334,;PYGL,intron_variant,,ENST00000532462,;PYGL,downstream_gene_variant,,ENST00000216392,;PYGL,downstream_gene_variant,,ENST00000544180,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000554566,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000556857,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000553715,;ABHD12B,3_prime_UTR_variant,,ENST00000382029,;ABHD12B,3_prime_UTR_variant,,ENST00000557345,;	825	306	300	SUCCESS
RPL13AP3	645683	.	GRCh37	14	56233080	56233080	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	8	0	ENST00000494676.1:n.118G>T		p.*40*	ENST00000494676				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|VARSCANS	.	CGGATGAACAC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000554458	Transcript	.	.	ENSG00000258784	.	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-813I20.2	Clone_based_vega_gene	.	.	.	SNV	RP11-813I20.2,intron_variant,,ENST00000554458,;RPL13AP3,non_coding_transcript_exon_variant,,ENST00000494676,;RPL13AP3,non_coding_transcript_exon_variant,,ENST00000487479,;	.	8	18	SUCCESS
HERC2P3	283755	.	GRCh37	15	20658890	20658890	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	16	93	0	ENST00000428453.1:n.1977T>A		p.*659*	ENST00000428453				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCAGGAAT	NONE	.	.	.	.	.	.	.	14/27	.	.	.	.	.	.	.	.	.	14/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000440441,;HERC2P3,intron_variant,,ENST00000437318,;HERC2P3,upstream_gene_variant,,ENST00000440774,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000429926,;HERC2P3,downstream_gene_variant,,ENST00000456027,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000544900,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000545640,;	1977	93	104	SUCCESS
TJP1	7082	.	GRCh37	15	30010589	30010589	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	67	0	ENST00000346128.6:c.3757G>T	p.Glu1253Ter	p.E1253*	ENST00000346128	NM_175610.2	1253	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42007.1	3757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCTTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	.	.	ENSP00000281537	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,stop_gained,p.Glu1253Ter,ENST00000356107,;TJP1,stop_gained,p.Glu1177Ter,ENST00000400011,;TJP1,stop_gained,p.Glu1253Ter,ENST00000346128,;TJP1,stop_gained,p.Glu1173Ter,ENST00000545208,;TJP1,downstream_gene_variant,,ENST00000561307,;	4232	67	85	SUCCESS
FBN1	2200	.	GRCh37	15	48764821	48764821	+	synonymous_variant	Silent	SNP	G	G	A	rs746769188	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	53	0	ENST00000316623.5:c.4263C>T	p.Leu1421=	p.L1421=	ENST00000316623	NM_000138.4	1421	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32232.1	4263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTGAGGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000325527	.	35/66	.	.	.	.	.	.	.	.	rs746769188	35/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,synonymous_variant,p.%3D,ENST00000316623,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000559133,;	4719	53	63	SUCCESS
PRTG	283659	.	GRCh37	15	55912922	55912922	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	39	101	0	ENST00000389286.4:c.3137A>G	p.Lys1046Arg	p.K1046R	ENST00000389286	NM_173814.4	1046	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS42040.1	3137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTTAATT	NONE	.	.	.	.	.	ENSP00000373937	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.19)	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,missense_variant,p.Lys1046Arg,ENST00000389286,;	3185	101	122	SUCCESS
RASGRF1	5923	.	GRCh37	15	79327481	79327481	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	43	0	ENST00000419573.3:c.950T>A	p.Leu317Gln	p.L317Q	ENST00000419573	NM_002891.4	317	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS10309.1	950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCAGCGTG	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000405963	.	6/28	.	.	.	.	.	.	.	.	.	6/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,missense_variant,p.Leu317Gln,ENST00000558480,;RASGRF1,missense_variant,p.Leu317Gln,ENST00000419573,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	1225	43	40	SUCCESS
RASGRF1	5923	.	GRCh37	15	79339166	79339166	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	35	0	ENST00000419573.3:c.800T>G	p.Leu267Arg	p.L267R	ENST00000419573	NM_002891.4	267	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS10309.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCAGGAAA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000405963	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,missense_variant,p.Leu267Arg,ENST00000558480,;RASGRF1,missense_variant,p.Leu267Arg,ENST00000419573,;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	1075	35	39	SUCCESS
TM6SF1	53346	.	GRCh37	15	83795555	83795555	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	35	57	0	ENST00000322019.9:c.757C>T	p.Gln253Ter	p.Q253*	ENST00000322019		253	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10323.1	757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTCAAGAG	NONE	.	.	hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF10,Pfam_domain:PF10914	.	.	ENSP00000317000	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000322019	Transcript	.	.	ENSG00000136404	11860	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM6S1_HUMAN	TM6SF1	HGNC	H3BM84_HUMAN,E9PD04_HUMAN	.	UPI0000039EA7	SNV	TM6SF1,stop_gained,p.Gln256Ter,ENST00000379386,;TM6SF1,stop_gained,p.Gln253Ter,ENST00000322019,;TM6SF1,stop_gained,p.Gln162Ter,ENST00000565982,;HDGFRP3,intron_variant,,ENST00000568294,;TM6SF1,intron_variant,,ENST00000379390,;TM6SF1,intron_variant,,ENST00000565774,;TM6SF1,upstream_gene_variant,,ENST00000561551,;TM6SF1,3_prime_UTR_variant,,ENST00000379384,;TM6SF1,intron_variant,,ENST00000258909,;	1031	57	87	SUCCESS
MFGE8	4240	.	GRCh37	15	89453020	89453020	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	74	0	ENST00000268150.8:c.205+3G>A		p.X69_splice	ENST00000268150	NM_005928.2	69		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10347.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCACTCG	NONE	.	.	.	.	.	ENSP00000268150	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268150	Transcript	.	.	ENSG00000140545	7036	.	.	LOW	2/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MFGM_HUMAN	MFGE8	HGNC	.	.	UPI000013D7A3	SNV	MFGE8,splice_region_variant,,ENST00000566497,;MFGE8,splice_region_variant,,ENST00000539437,;MFGE8,splice_region_variant,,ENST00000268151,;MFGE8,splice_region_variant,,ENST00000558029,;MFGE8,splice_region_variant,,ENST00000268150,;MFGE8,intron_variant,,ENST00000542878,;MFGE8,intron_variant,,ENST00000559997,;MFGE8,upstream_gene_variant,,ENST00000560553,;MFGE8,splice_region_variant,,ENST00000558018,;MFGE8,splice_region_variant,,ENST00000559770,;MFGE8,intron_variant,,ENST00000558352,;MFGE8,downstream_gene_variant,,ENST00000557944,;MFGE8,downstream_gene_variant,,ENST00000558773,;MFGE8,upstream_gene_variant,,ENST00000559259,;MFGE8,downstream_gene_variant,,ENST00000559143,;	.	74	81	SUCCESS
ACSM2B	348158	.	GRCh37	16	20554485	20554485	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143500332	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	45	244	0	ENST00000329697.6:c.1381C>T	p.Arg461Trp	p.R461W	ENST00000329697	NM_001105069.1	461	Cgg/Tgg	0	A:0.0002	.	.	.	.	A	R/W	protein_coding	YES	CCDS10586.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCGTCCCA	BUFFER|p.D464N|c.1390G>A|4	byCluster	.	Superfamily_domains:SSF56801,Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095	.	A:0.0001	ENSP00000327453	.	11/14	.	.	.	.	.	.	.	.	rs143500332	11/14	PASS	ENST00000329697	Transcript	.	.	ENSG00000066813	30931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ACS2B_HUMAN	ACSM2B	HGNC	H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN	.	UPI00001AFAA7	SNV	ACSM2B,missense_variant,p.Arg39Trp,ENST00000568098,;ACSM2B,missense_variant,p.Arg461Trp,ENST00000565232,;ACSM2B,missense_variant,p.Arg461Trp,ENST00000329697,;ACSM2B,missense_variant,p.Arg461Trp,ENST00000567001,;ACSM2B,missense_variant,p.Arg382Trp,ENST00000565322,;ACSM2B,downstream_gene_variant,,ENST00000567288,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569131,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,upstream_gene_variant,,ENST00000564849,;	1550	244	145	SUCCESS
TSC2	7249	.	GRCh37	16	2122984	2122984	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	29	0	ENST00000219476.3:c.2355+1del		p.Q785fs	ENST00000219476	NM_000548.3	785	caG/ca	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS10458.1	2355	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAACAGGTAGG	NONE	.	.	hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF03542	.	.	ENSP00000219476	.	21/42	.	.	.	.	.	.	.	.	.	21/42	PASS	ENST00000219476	Transcript	.	.	ENSG00000103197	12363	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TSC2_HUMAN	TSC2	HGNC	.	.	UPI000013C781	deletion	TSC2,frameshift_variant,,ENST00000439673,;TSC2,frameshift_variant,,ENST00000219476,;TSC2,frameshift_variant,,ENST00000353929,;TSC2,frameshift_variant,,ENST00000350773,;TSC2,frameshift_variant,,ENST00000568454,;TSC2,frameshift_variant,,ENST00000382538,;TSC2,frameshift_variant,,ENST00000401874,;TSC2,downstream_gene_variant,,ENST00000562474,;TSC2,upstream_gene_variant,,ENST00000568366,;TSC2,splice_region_variant,,ENST00000463808,;TSC2,splice_region_variant,,ENST00000563346,;TSC2,splice_region_variant,,ENST00000439117,;TSC2,downstream_gene_variant,,ENST00000488675,;TSC2,downstream_gene_variant,,ENST00000568566,;TSC2,upstream_gene_variant,,ENST00000471143,;TSC2,upstream_gene_variant,,ENST00000483020,;	2985	29	43	SUCCESS
ZKSCAN2	342357	.	GRCh37	16	25258229	25258229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	107	0	ENST00000328086.7:c.1288G>A	p.Ala430Thr	p.A430T	ENST00000328086	NM_001012981.4	430	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32410.1	1288	MUTECT|MUSE	.	ACGGGCTGCAG	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF206	.	.	ENSP00000331626	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000328086	Transcript	.	.	ENSG00000155592	25677	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.744)	.	tolerated(0.54)	.	ZKSC2_HUMAN	ZKSCAN2	HGNC	.	.	UPI0000229E7F	SNV	ZKSCAN2,missense_variant,p.Ala430Thr,ENST00000328086,;ZKSCAN2,3_prime_UTR_variant,,ENST00000569150,;ZKSCAN2,non_coding_transcript_exon_variant,,ENST00000565590,;	2092	107	80	SUCCESS
C16orf82	162083	.	GRCh37	16	27079001	27079001	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs181622891	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	37	0	ENST00000505035.1:n.974G>A		p.*325*	ENST00000505035				0	.	A:0.0015	.	A:0	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGGGCGG	NONE	byFrequency|by1000G	.	.	A:0	.	.	A:0	1/1	.	.	.	.	.	.	.	.	rs181622891	1/1	PASS	ENST00000505035	Transcript	.	A:0.0004	ENSG00000234186	30755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	C16orf82	HGNC	.	.	.	SNV	C16orf82,non_coding_transcript_exon_variant,,ENST00000505035,;C16orf82,non_coding_transcript_exon_variant,,ENST00000418886,;RP11-673P17.2,non_coding_transcript_exon_variant,,ENST00000565783,;	974	37	21	SUCCESS
SLC6A2	6530	.	GRCh37	16	55725901	55725901	+	synonymous_variant	Silent	SNP	C	C	T	rs180935423	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	52	0	ENST00000379906.2:c.855C>T	p.Pro285=	p.P285=	ENST00000379906	NM_001043.3	285	ccC/ccT	0	.	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS54011.1	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCGGAGC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF37,PROSITE_profiles:PS50267	T:0.002	.	ENSP00000219833	T:0	5/14	.	.	.	.	.	.	.	.	rs180935423	5/14	PASS	ENST00000219833	Transcript	.	T:0.0004	ENSG00000103546	11048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SC6A2_HUMAN	SLC6A2	HGNC	Q9Y6W9_HUMAN,H3BMY5_HUMAN	.	UPI00000734FD	SNV	SLC6A2,synonymous_variant,p.%3D,ENST00000219833,;SLC6A2,synonymous_variant,p.%3D,ENST00000561820,;SLC6A2,synonymous_variant,p.%3D,ENST00000568943,;SLC6A2,synonymous_variant,p.%3D,ENST00000379906,;SLC6A2,synonymous_variant,p.%3D,ENST00000414754,;SLC6A2,synonymous_variant,p.%3D,ENST00000567238,;SLC6A2,intron_variant,,ENST00000568529,;SLC6A2,intron_variant,,ENST00000566163,;	906	52	28	SUCCESS
CDH11	1009	.	GRCh37	16	65025685	65025685	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	74	0	ENST00000268603.4:c.797del	p.Pro266GlnfsTer22	p.P266Qfs*22	ENST00000268603	NM_001797.2	266	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10803.1	797	INDELOCATOR|VARSCANI	.	AACTTTGGTGGG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205,Prints_domain:PR00205	.	.	ENSP00000268603	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	deletion	CDH11,frameshift_variant,p.Pro266GlnfsTer22,ENST00000394156,;CDH11,frameshift_variant,p.Pro266GlnfsTer22,ENST00000268603,;CDH11,frameshift_variant,p.Pro140GlnfsTer22,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000567934,;CDH11,non_coding_transcript_exon_variant,,ENST00000569128,;	1413	74	48	SUCCESS
CDH11	1009	.	GRCh37	16	65025686	65025686	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	75	0	ENST00000268603.4:c.796C>A	p.Pro266Thr	p.P266T	ENST00000268603	NM_001797.2	266	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS10803.1	796	SOMATICSNIPER|VARSCANS	.	CTTTGGTGGGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF85,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205,Prints_domain:PR00205	.	.	ENSP00000268603	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.865)	.	deleterious(0)	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,missense_variant,p.Pro266Thr,ENST00000394156,;CDH11,missense_variant,p.Pro266Thr,ENST00000268603,;CDH11,missense_variant,p.Pro140Thr,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000567934,;CDH11,non_coding_transcript_exon_variant,,ENST00000569128,;	1412	75	47	SUCCESS
SPAG5-AS1	100506436	.	GRCh37	17	26943792	26943792	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	28	73	0	ENST00000414744.1:n.1540A>C		p.*514*	ENST00000414744				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32595.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCAAGAAGC	NONE	.	.	.	.	.	ENSP00000436773	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODIFIER	34/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,intron_variant,,ENST00000544884,;KIAA0100,intron_variant,,ENST00000528896,;KIAA0100,intron_variant,,ENST00000389003,;RP11-192H23.4,upstream_gene_variant,,ENST00000577790,;SGK494,upstream_gene_variant,,ENST00000530121,;RP11-192H23.4,upstream_gene_variant,,ENST00000531839,;SGK494,upstream_gene_variant,,ENST00000301037,;SGK494,upstream_gene_variant,,ENST00000525510,;RP11-192H23.4,upstream_gene_variant,,ENST00000534850,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000424210,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000414744,;SPAG5-AS1,downstream_gene_variant,,ENST00000554154,;KIAA0100,intron_variant,,ENST00000579924,;SGK494,upstream_gene_variant,,ENST00000526073,;SGK494,upstream_gene_variant,,ENST00000469832,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000584675,;KIAA0100,intron_variant,,ENST00000583860,;SGK494,upstream_gene_variant,,ENST00000527918,;SGK494,upstream_gene_variant,,ENST00000581199,;SGK494,upstream_gene_variant,,ENST00000527863,;SGK494,upstream_gene_variant,,ENST00000494272,;RP11-192H23.4,upstream_gene_variant,,ENST00000481916,;SGK494,upstream_gene_variant,,ENST00000461399,;KIAA0100,downstream_gene_variant,,ENST00000580395,;RP11-192H23.4,upstream_gene_variant,,ENST00000584196,;	.	73	95	SUCCESS
MYO18A	399687	.	GRCh37	17	27420004	27420004	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	35	0	ENST00000527372.1:c.4942T>G	p.Phe1648Val	p.F1648V	ENST00000527372	NM_078471.3	1648	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS45642.1	4942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAAGTCCC	NONE	.	.	Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293	.	.	ENSP00000437073	.	33/42	.	.	.	.	.	.	.	.	.	33/42	PASS	ENST00000527372	Transcript	.	.	ENSG00000196535	31104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	MY18A_HUMAN	MYO18A	HGNC	.	.	UPI0000167F32	SNV	MYO18A,missense_variant,p.Phe1648Val,ENST00000527372,;MYO18A,missense_variant,p.Phe1611Val,ENST00000533112,;MYO18A,missense_variant,p.Phe1648Val,ENST00000354329,;MYO18A,missense_variant,p.Phe1648Val,ENST00000531253,;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000530557,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,downstream_gene_variant,,ENST00000533652,;	5123	35	34	SUCCESS
CAMKK1	84254	.	GRCh37	17	3779538	3779538	+	synonymous_variant	Silent	SNP	G	G	T	rs560406629	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	23	39	0	ENST00000348335.2:c.975C>A	p.Ser325=	p.S325=	ENST00000348335	NM_032294.2	325	tcC/tcA	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS11039.1	1089	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGAATC	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF141,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	A:0	.	ENSP00000158166	A:0	11/16	.	.	.	.	.	.	.	.	rs560406629,COSM3402825,COSM3402824	11/16	PASS	ENST00000158166	Transcript	.	A:0.0006	ENSG00000004660	1469	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	A:0.0031	.	0,1,1	KKCC1_HUMAN	CAMKK1	HGNC	.	.	UPI0000141119	SNV	CAMKK1,synonymous_variant,p.%3D,ENST00000381769,;CAMKK1,synonymous_variant,p.%3D,ENST00000381771,;CAMKK1,synonymous_variant,p.%3D,ENST00000158166,;CAMKK1,synonymous_variant,p.%3D,ENST00000348335,;CAMKK1,downstream_gene_variant,,ENST00000573483,;	1238	39	36	SUCCESS
HOXB7	3217	.	GRCh37	17	46685380	46685380	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770931876	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	60	0	ENST00000239165.7:c.478C>T	p.Arg160Cys	p.R160C	ENST00000239165	NM_004502.3	160	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS11532.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGATTGT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF129,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024	.	.	ENSP00000239165	.	2/2	.	.	.	.	.	.	.	.	rs770931876,COSM297431	2/2	PASS	ENST00000239165	Transcript	.	.	ENSG00000260027	5118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.989)	.	deleterious(0)	0,1	HXB7_HUMAN	HOXB7	HGNC	Q9HB12_HUMAN	.	UPI00001AE6AD	SNV	HOXB7,missense_variant,p.Arg160Cys,ENST00000239165,;HOXB6,upstream_gene_variant,,ENST00000225648,;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB6,upstream_gene_variant,,ENST00000484302,;HOXB8,downstream_gene_variant,,ENST00000239144,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB7,non_coding_transcript_exon_variant,,ENST00000467314,;HOXB7,non_coding_transcript_exon_variant,,ENST00000567101,;HOXB6,upstream_gene_variant,,ENST00000490419,;HOXB3,upstream_gene_variant,,ENST00000552000,;	577	60	96	SUCCESS
KIF1C	10749	.	GRCh37	17	4905414	4905414	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	68	0	ENST00000320785.5:c.424G>A	p.Val142Met	p.V142M	ENST00000320785	NM_006612.5	142	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS11065.1	424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGTGGAG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000320821	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000320785	Transcript	.	.	ENSG00000129250	6317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.03)	.	KIF1C_HUMAN	KIF1C	HGNC	I3L1B1_HUMAN	.	UPI0000001C26	SNV	KIF1C,missense_variant,p.Val142Met,ENST00000320785,;INCA1,upstream_gene_variant,,ENST00000396829,;KIF1C,downstream_gene_variant,,ENST00000574165,;INCA1,upstream_gene_variant,,ENST00000355025,;INCA1,upstream_gene_variant,,ENST00000575780,;	781	68	40	SUCCESS
MPO	4353	.	GRCh37	17	56348028	56348028	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	74	0	ENST00000225275.3:c.2227G>C	p.Glu743Gln	p.E743Q	ENST00000225275	NM_000250.1	743	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS11604.1	2227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCCCTCC	BUFFER|p.R742G|c.2224A>G|3	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Superfamily_domains:SSF48113	.	.	ENSP00000225275	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.14)	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,missense_variant,p.Glu775Gln,ENST00000340482,;MPO,missense_variant,p.Glu743Gln,ENST00000225275,;LPO,downstream_gene_variant,,ENST00000421678,;LPO,downstream_gene_variant,,ENST00000262290,;LPO,downstream_gene_variant,,ENST00000543544,;LPO,downstream_gene_variant,,ENST00000582328,;MPO,downstream_gene_variant,,ENST00000577220,;MPO,downstream_gene_variant,,ENST00000578493,;LPO,downstream_gene_variant,,ENST00000580890,;LPO,downstream_gene_variant,,ENST00000389576,;	2404	74	97	SUCCESS
TBX2	6909	.	GRCh37	17	59485645	59485645	+	synonymous_variant	Silent	SNP	C	C	T	rs768086181	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	48	87	0	ENST00000240328.3:c.1917C>T	p.Thr639=	p.T639=	ENST00000240328	NM_005994.3	639	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11627.2	1917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCGGGCT	NONE	.	.	hmmpanther:PTHR11267:SF82,hmmpanther:PTHR11267	.	.	ENSP00000240328	.	7/7	.	.	.	.	.	.	.	.	rs768086181	7/7	PASS	ENST00000240328	Transcript	.	.	ENSG00000121068	11597	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBX2_HUMAN	TBX2	HGNC	.	.	UPI000020116F	SNV	TBX2,synonymous_variant,p.%3D,ENST00000240328,;C17orf82,upstream_gene_variant,,ENST00000335108,;RP11-332H18.4,intron_variant,,ENST00000592009,;TBX2,upstream_gene_variant,,ENST00000586986,;TBX2,3_prime_UTR_variant,,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;	2198	87	165	SUCCESS
TP53	7157	.	GRCh37	17	7578457	7578457	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs587782144	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	51	0	ENST00000269305.4:c.473G>A	p.Arg158His	p.R158H	ENST00000269305	NM_001126112.2	158	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11118.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	TGGCGCGGACG	SITE|p.R158H|c.473G>A|24,SITE|p.R158H|c.473G>A|24,SITE|p.R158H|c.473G>A|78,SITE|p.R158H|c.473G>A|7,SITE|p.R158H|c.473G>A|11,SITE|p.R65H|c.194G>A|24,SITE|p.R26H|c.77G>A|25,CODON|p.0?|c.1_1182del1182|6,CODON|p.R158fs*11|c.472_475delCGCG|3,CODON|p.R158_A159insX|c.473_474insNNN|4,CODON|p.R158R|c.474C>T|6,CODON|p.R158L|c.473G>T|14,CODON|p.R158L|c.473G>T|63,CODON|p.R158P|c.473G>C|10,CODON|p.R158L|c.473G>T|5,CODON|p.R158L|c.473G>T|14,CODON|p.R26L|c.77G>T|19,CODON|p.R65L|c.194G>T|14,CODON|p.R158C|c.471_472CC>TT|6,CODON|p.R158fs*12|c.472delC|6,BUFFER|p.I162V|c.484A>G|5,BUFFER|p.I162F|c.484A>T|11,BUFFER|p.A161A|c.483C>T|5,BUFFER|p.A161fs*9|c.481delG|3,BUFFER|p.A161V|c.482C>T|9,BUFFER|p.A161D|c.482C>A|9,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|3,BUFFER|p.A161T|c.481G>A|10,BUFFER|p.A29T|c.85G>A|10,BUFFER|p.A161T|c.481G>A|52,BUFFER|p.A68T|c.202G>A|10,BUFFER|p.A161S|c.481G>T|3,BUFFER|p.M160I|c.480G>T|4,BUFFER|p.M160I|c.480G>A|3,BUFFER|p.M160K|c.479T>A|4,BUFFER|p.M160L|c.478A>C|3,BUFFER|p.M160V|c.478A>G|5,BUFFER|p.A159A|c.477C>T|8,BUFFER|p.A159fs*11|c.475delG|4,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A66V|c.197C>T|9,BUFFER|p.A27V|c.80C>T|9,BUFFER|p.A159V|c.476C>T|39,BUFFER|p.A159V|c.476C>T|9,BUFFER|p.A159D|c.476C>A|6,BUFFER|p.A159S|c.475G>T|5,BUFFER|p.A159P|c.475G>C|3,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A159T|c.475G>A|7,BUFFER|p.A66P|c.196G>C|5,BUFFER|p.A159P|c.475G>C|20,BUFFER|p.A159P|c.475G>C|5,BUFFER|p.A27P|c.79G>C|5,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R158C|c.472C>T|17,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R26C|c.76C>T|7,BUFFER|p.R65C|c.193C>T|7,BUFFER|p.R158G|c.472C>G|12,BUFFER|p.R158C|c.472C>T|7,BUFFER|p.R65G|c.193C>G|3,BUFFER|p.R158G|c.472C>G|3,BUFFER|p.R26G|c.76C>G|4,BUFFER|p.V157V|c.471C>A|3,BUFFER|p.V157G|c.470T>G|9,BUFFER|p.V157D|c.470T>A|8,BUFFER|p.V157F|c.469G>T|7,BUFFER|p.V157F|c.469G>T|8,BUFFER|p.V157L|c.469G>C|6,BUFFER|p.V157F|c.469G>T|22,BUFFER|p.V157F|c.469G>T|162,BUFFER|p.V157I|c.469G>A|10,BUFFER|p.V157F|c.469G>T|22,BUFFER|p.V25F|c.73G>T|25,BUFFER|p.V64F|c.190G>T|22,BUFFER|p.V157fs*13|c.468delC|3,BUFFER|p.R156P|c.467G>C|26,BUFFER|p.R63P|c.188G>C|4,BUFFER|p.R156H|c.467G>A|11,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R156P|c.467G>C|4,BUFFER|p.R24P|c.71G>C|4,BUFFER|p.R156L|c.467G>T|3,BUFFER|p.P152fs*14|c.454_466del13|5,BUFFER|p.R156fs*14|c.466delC|9,BUFFER|p.R156S|c.466C>A|3,BUFFER|p.R156G|c.466C>G|3,BUFFER|p.R156C|c.466C>T|4,BUFFER|p.T155T|c.465C>T|4,BUFFER|p.T155N|c.464C>A|4,BUFFER|p.T155N|c.464C>A|5,BUFFER|p.T62N|c.185C>A|6,BUFFER|p.T155N|c.464C>A|25,BUFFER|p.T155I|c.464C>T|15,BUFFER|p.T23N|c.68C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T155N|c.464C>A|6,BUFFER|p.T62P|c.184A>C|3,BUFFER|p.T155P|c.463A>C|16,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T23P|c.67A>C|4,BUFFER|p.T155P|c.463A>C|3,BUFFER|p.T155A|c.463A>G|8,BUFFER|p.G154I|c.460_461GG>AT|3,BUFFER|p.G154G|c.462C>T|9	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	rs587782144,CM994513,CM102353,TP53_g.12461G>A,TP53_g.12461G>T,TP53_g.12461G>C,COSM10690,COSM43615,COSM10714,COSM99678,COSM220779,COSM1649375,COSM220778,COSM1649377,COSM99675,COSM220780,COSM99676,COSM1649379,COSM3378357,COSM3958835,COSM1640853,COSM1649374,COSM1649376,COSM220781,COSM1649378,COSM99677	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	benign(0.438)	.	tolerated(0.1)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg158His,ENST00000508793,;TP53,missense_variant,p.Arg158His,ENST00000413465,;TP53,missense_variant,p.Arg158His,ENST00000420246,;TP53,missense_variant,p.Arg158His,ENST00000269305,;TP53,missense_variant,p.Arg26His,ENST00000509690,;TP53,missense_variant,p.Arg158His,ENST00000359597,;TP53,missense_variant,p.Arg65His,ENST00000514944,;TP53,missense_variant,p.Arg158His,ENST00000445888,;TP53,missense_variant,p.Arg158His,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	663	52	36	SUCCESS
FASN	2194	.	GRCh37	17	80040839	80040839	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	31	0	ENST00000306749.2:c.5718G>A	p.Gln1906=	p.Q1906=	ENST00000306749	NM_004104.4	1906	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS11801.1	5718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCTGTAT	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF08659,Gene3D:3.40.50.720,SMART_domains:SM00822,Superfamily_domains:SSF51735	.	.	ENSP00000304592	.	33/43	.	.	.	.	.	.	.	.	.	33/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,synonymous_variant,p.%3D,ENST00000306749,;FASN,non_coding_transcript_exon_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	5937	31	61	SUCCESS
TBCD	6904	.	GRCh37	17	80851463	80851463	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	213	284	0	ENST00000355528.4:c.1604A>T	p.Asp535Val	p.D535V	ENST00000355528	NM_005993.4	535	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS45818.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGACTATT	NONE	.	.	hmmpanther:PTHR12658,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000347719	.	17/39	.	.	.	.	.	.	.	.	.	17/39	PASS	ENST00000355528	Transcript	.	.	ENSG00000141556	11581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.242)	.	deleterious(0.01)	.	TBCD_HUMAN	TBCD	HGNC	I3L4D2_HUMAN,I3L439_HUMAN,I3L3H4_HUMAN,I3L1S3_HUMAN,I3L163_HUMAN,I3L131_HUMAN	.	UPI000020053F	SNV	TBCD,missense_variant,p.Asp535Val,ENST00000539345,;TBCD,missense_variant,p.Asp149Val,ENST00000397466,;TBCD,missense_variant,p.Asp41Val,ENST00000571316,;TBCD,missense_variant,p.Asp535Val,ENST00000355528,;TBCD,missense_variant,p.Asp21Val,ENST00000572953,;TBCD,missense_variant,p.Asp21Val,ENST00000574975,;TBCD,5_prime_UTR_variant,,ENST00000571712,;TBCD,5_prime_UTR_variant,,ENST00000576760,;TBCD,5_prime_UTR_variant,,ENST00000576996,;TBCD,5_prime_UTR_variant,,ENST00000572984,;TBCD,5_prime_UTR_variant,,ENST00000576160,;TBCD,intron_variant,,ENST00000574801,;TBCD,upstream_gene_variant,,ENST00000571796,;	1734	284	394	SUCCESS
CCDC178	374864	.	GRCh37	18	30554599	30554599	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	38	0	ENST00000383096.3:c.2435T>A	p.Phe812Tyr	p.F812Y	ENST00000383096		812	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS42424.1	2435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGAAGTGC	NONE	.	.	.	.	.	ENSP00000372576	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Phe812Tyr,ENST00000579947,;CCDC178,missense_variant,p.Phe132Tyr,ENST00000579916,;CCDC178,missense_variant,p.Phe309Tyr,ENST00000581524,;CCDC178,missense_variant,p.Phe17Tyr,ENST00000581852,;CCDC178,missense_variant,p.Phe836Tyr,ENST00000406524,;CCDC178,missense_variant,p.Phe812Tyr,ENST00000403303,;CCDC178,missense_variant,p.Phe812Tyr,ENST00000383096,;CCDC178,missense_variant,p.Phe762Tyr,ENST00000402325,;CCDC178,missense_variant,p.Phe774Tyr,ENST00000300227,;CCDC178,missense_variant,p.Phe836Tyr,ENST00000583930,;	2618	38	57	SUCCESS
LAMA1	284217	.	GRCh37	18	7033066	7033066	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	47	0	ENST00000389658.3:c.2080A>T	p.Ser694Cys	p.S694C	ENST00000389658	NM_005559.3	694	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS32787.1	2080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTGGCTA	NONE	.	.	PROSITE_profiles:PS51115,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Pfam_domain:PF00052,SMART_domains:SM00281	.	.	ENSP00000374309	.	15/63	.	.	.	.	.	.	.	.	.	15/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0.05)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Ser694Cys,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	2174	47	33	SUCCESS
TXNDC2	84203	.	GRCh37	18	9886946	9886946	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	51	130	0	ENST00000306084.6:c.470T>C	p.Ile157Thr	p.I157T	ENST00000306084	NM_001098529.1	157	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS42414.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCATCCAGC	NONE	.	.	Pfam_domain:PF03157	.	.	ENSP00000304908	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306084	Transcript	.	.	ENSG00000168454	16470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	tolerated(0.27)	.	TXND2_HUMAN	TXNDC2	HGNC	F5H6S7_HUMAN	.	UPI000013EAE7	SNV	TXNDC2,missense_variant,p.Ile90Thr,ENST00000357775,;TXNDC2,missense_variant,p.Ile90Thr,ENST00000536353,;TXNDC2,missense_variant,p.Ile157Thr,ENST00000306084,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;	669	130	130	SUCCESS
ZNF653	115950	.	GRCh37	19	11598499	11598499	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377200586	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	48	109	0	ENST00000293771.5:c.779C>T	p.Pro260Leu	p.P260L	ENST00000293771	NM_138783.3	260	cCg/cTg	0	A:0	.	.	.	.	A	P/L	protein_coding	YES	CCDS12261.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCGGGGTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11389:SF353,hmmpanther:PTHR11389	.	A:0.0001	ENSP00000293771	.	4/9	.	.	.	.	.	.	.	.	rs377200586	4/9	PASS	ENST00000293771	Transcript	.	.	ENSG00000161914	25196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	deleterious(0.02)	.	ZN653_HUMAN	ZNF653	HGNC	.	.	UPI000006FAFC	SNV	ZNF653,missense_variant,p.Pro260Leu,ENST00000293771,;ZNF653,upstream_gene_variant,,ENST00000592756,;ZNF653,upstream_gene_variant,,ENST00000589051,;ZNF653,upstream_gene_variant,,ENST00000590296,;ZNF653,non_coding_transcript_exon_variant,,ENST00000590548,;CTC-398G3.6,intron_variant,,ENST00000585656,;	916	110	129	SUCCESS
CACNA1A	773	.	GRCh37	19	13365942	13365942	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	25	0	ENST00000360228.5:c.4722G>A	p.Met1574Ile	p.M1574I	ENST00000360228	NM_001127222.1	1574	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS45998.1	4722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGATCATGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000353362	.	29/47	.	.	.	.	.	.	.	.	.	29/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Met1575Ile,ENST00000573710,;CACNA1A,missense_variant,p.Met1574Ile,ENST00000360228,;CACNA1A,missense_variant,p.Met260Ile,ENST00000585802,;CACNA1A,missense_variant,p.Met61Ile,ENST00000587525,;CACNA1A,upstream_gene_variant,,ENST00000574822,;CACNA1A,upstream_gene_variant,,ENST00000573891,;	4722	25	22	SUCCESS
PKN1	5585	.	GRCh37	19	14581098	14581098	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	23	0	ENST00000242783.6:c.2417A>T	p.Tyr806Phe	p.Y806F	ENST00000242783	NM_002741.3	806	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS42514.1	2435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTACGAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF69,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000343325	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000342216	Transcript	.	.	ENSG00000123143	9405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.121)	.	tolerated(0.45)	.	PKN1_HUMAN	PKN1	HGNC	.	.	UPI0000366D4D	SNV	PKN1,missense_variant,p.Tyr806Phe,ENST00000242783,;PKN1,missense_variant,p.Tyr812Phe,ENST00000342216,;PKN1,intron_variant,,ENST00000586237,;PTGER1,downstream_gene_variant,,ENST00000292513,;PKN1,upstream_gene_variant,,ENST00000592960,;PKN1,non_coding_transcript_exon_variant,,ENST00000585839,;PKN1,non_coding_transcript_exon_variant,,ENST00000586039,;PKN1,intron_variant,,ENST00000591461,;PKN1,downstream_gene_variant,,ENST00000586900,;PKN1,downstream_gene_variant,,ENST00000587215,;	2466	23	18	SUCCESS
CALR3	125972	.	GRCh37	19	16601349	16601349	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	88	0	ENST00000269881.3:c.226G>A	p.Ala76Thr	p.A76T	ENST00000269881	NM_145046.4	76	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12344.1	226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCATAGA	NONE	.	.	Superfamily_domains:SSF49899,PIRSF_domain:PIRSF002356,Pfam_domain:PF00262,Gene3D:2.60.120.200,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF3	.	.	ENSP00000269881	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000269881	Transcript	1	.	ENSG00000269058	20407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CALR3_HUMAN	CALR3	HGNC	.	.	UPI000013D85C	SNV	CALR3,missense_variant,p.Ala76Thr,ENST00000269881,;CALR3,intron_variant,,ENST00000600762,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	289	88	84	SUCCESS
DIRAS1	148252	.	GRCh37	19	2717599	2717599	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	29	0	ENST00000323469.4:c.206C>G	p.Pro69Arg	p.P69R	ENST00000323469	NM_145173.3	69	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS12092.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGGGAAC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF213,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000325836	.	2/2	.	.	.	.	.	.	.	.	COSM1304361	2/2	PASS	ENST00000323469	Transcript	.	.	ENSG00000176490	19127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	tolerated(0.1)	1	DIRA1_HUMAN	DIRAS1	HGNC	K7EN06_HUMAN	.	UPI000000D876	SNV	DIRAS1,missense_variant,p.Pro69Arg,ENST00000588128,;DIRAS1,missense_variant,p.Pro69Arg,ENST00000323469,;DIRAS1,missense_variant,p.Pro69Arg,ENST00000585334,;AC006538.4,downstream_gene_variant,,ENST00000586572,;	390	29	33	SUCCESS
MAG	4099	.	GRCh37	19	35786342	35786342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	59	0	ENST00000392213.3:c.31T>C	p.Trp11Arg	p.W11R	ENST00000392213	NM_002361.3	11	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS12455.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTGGATT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23	.	.	ENSP00000376048	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000392213	Transcript	.	.	ENSG00000105695	6783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	tolerated(0.5)	.	MAG_HUMAN	MAG	HGNC	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN	.	UPI000012EB2F	SNV	MAG,missense_variant,p.Trp11Arg,ENST00000392213,;MAG,missense_variant,p.Trp11Arg,ENST00000595791,;MAG,missense_variant,p.Trp11Arg,ENST00000597035,;MAG,missense_variant,p.Trp11Arg,ENST00000361922,;MAG,intron_variant,,ENST00000600291,;MAG,intron_variant,,ENST00000537831,;	190	59	55	SUCCESS
COX6B1	1340	.	GRCh37	19	36142167	36142167	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	65	0	ENST00000246554.3:c.22A>G	p.Lys8Glu	p.K8E	ENST00000246554	NM_001863.4	8	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12469.1	22	RADIA|MUTECT|MUSE	.	AGACCAAAATC	NONE	.	.	hmmpanther:PTHR11387:SF13,hmmpanther:PTHR11387,Gene3D:1v54H00,PIRSF_domain:PIRSF000278	.	.	ENSP00000246554	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000246554	Transcript	1	.	ENSG00000126267	2280	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.259)	.	tolerated(0.06)	.	CX6B1_HUMAN	COX6B1	HGNC	.	.	UPI00000527BE	SNV	COX6B1,missense_variant,p.Lys8Glu,ENST00000392201,;COX6B1,missense_variant,p.Lys8Glu,ENST00000246554,;COX6B1,missense_variant,p.Lys8Glu,ENST00000590618,;COX6B1,missense_variant,p.Lys8Glu,ENST00000592141,;	214	65	70	SUCCESS
ZNF571	51276	.	GRCh37	19	38056846	38056846	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	65	0	ENST00000328550.2:c.484A>T	p.Asn162Tyr	p.N162Y	ENST00000328550		162	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS12505.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTATGAT	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141,PROSITE_profiles:PS50157	.	.	ENSP00000333660	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000328550	Transcript	.	.	ENSG00000180479	25000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.601)	.	deleterious(0)	.	ZN571_HUMAN	ZNF571	HGNC	.	.	UPI000020220A	SNV	ZNF571,missense_variant,p.Asn162Tyr,ENST00000593133,;ZNF571,missense_variant,p.Asn162Tyr,ENST00000358744,;ZNF571,missense_variant,p.Asn162Tyr,ENST00000451802,;ZNF571,missense_variant,p.Asn162Tyr,ENST00000328550,;ZNF571,intron_variant,,ENST00000590751,;ZNF540,intron_variant,,ENST00000592533,;ZNF571,downstream_gene_variant,,ENST00000590390,;ZNF571-AS1,intron_variant,,ENST00000586013,;ZNF571-AS1,intron_variant,,ENST00000589750,;ZNF571-AS1,intron_variant,,ENST00000587121,;ZNF571-AS1,intron_variant,,ENST00000591430,;ZNF571-AS1,intron_variant,,ENST00000590838,;ZNF571-AS1,intron_variant,,ENST00000586139,;ZNF571-AS1,intron_variant,,ENST00000585578,;ZNF571-AS1,intron_variant,,ENST00000589802,;ZNF571-AS1,intron_variant,,ENST00000592392,;ZNF571-AS1,upstream_gene_variant,,ENST00000591177,;	584	65	74	SUCCESS
DEDD2	162989	.	GRCh37	19	42713936	42713936	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	19	0	ENST00000595337.1:c.505A>T	p.Arg169Ter	p.R169*	ENST00000595337	NM_001270614.1	169	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS12597.1	505	MUTECT|MUSE	.	CCGTCTGGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF1	.	.	ENSP00000470082	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000595337	Transcript	.	.	ENSG00000160570	24450	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEDD2_HUMAN	DEDD2	HGNC	M0QYK9_HUMAN	.	UPI0000046657	SNV	DEDD2,stop_gained,p.Arg164Ter,ENST00000336034,;DEDD2,stop_gained,p.Arg169Ter,ENST00000595337,;DEDD2,stop_gained,p.Arg169Ter,ENST00000596251,;DEDD2,stop_gained,p.Arg169Ter,ENST00000598727,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593804,;DEDD2,non_coding_transcript_exon_variant,,ENST00000601135,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602075,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593561,;DEDD2,non_coding_transcript_exon_variant,,ENST00000600559,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602201,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598415,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598090,;	593	19	26	SUCCESS
ZNF468	90333	.	GRCh37	19	53352366	53352366	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	12	0	ENST00000595646.1:c.116A>C	p.Glu39Ala	p.E39A	ENST00000595646		39	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS33094.1	116	RADIA|MUTECT|MUSE	.	AATTCTCCAGC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24407:SF14,hmmpanther:PTHR24407,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000470381	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000595646	Transcript	.	.	ENSG00000204604	33105	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.874)	.	deleterious(0)	.	ZN468_HUMAN	ZNF468	HGNC	.	.	UPI00001D8191	SNV	ZNF468,missense_variant,p.Glu3Ala,ENST00000601847,;ZNF468,missense_variant,p.Glu39Ala,ENST00000595646,;ZNF468,missense_variant,p.Glu39Ala,ENST00000243639,;ZNF468,missense_variant,p.Glu39Ala,ENST00000597924,;ZNF468,5_prime_UTR_variant,,ENST00000390651,;ZNF468,5_prime_UTR_variant,,ENST00000396409,;ZNF28,intron_variant,,ENST00000596559,;ZNF28,intron_variant,,ENST00000594602,;ZNF468,3_prime_UTR_variant,,ENST00000601980,;ZNF468,3_prime_UTR_variant,,ENST00000602144,;	237	12	13	SUCCESS
KIR2DL1	3802	.	GRCh37	19	55284949	55284949	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	18	29	0	ENST00000336077.6:c.235G>A	p.Gly79Arg	p.G79R	ENST00000336077	NM_014218.2	79	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS12904.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGGGGTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000336769	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000336077	Transcript	.	.	ENSG00000125498	6329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.16)	.	KI2L1_HUMAN	KIR2DL1	HGNC	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN	.	UPI00001195F7	SNV	KIR2DL1,missense_variant,p.Gly79Arg,ENST00000336077,;KIR2DL1,missense_variant,p.Gly79Arg,ENST00000291633,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	275	29	21	SUCCESS
ZNF274	10782	.	GRCh37	19	58718123	58718123	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	78	0	ENST00000326804.4:c.293C>G	p.Pro98Arg	p.P98R	ENST00000326804	NM_133502.2	98	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	.	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCTCTTC	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF47	.	.	ENSP00000321209	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000326804	Transcript	.	.	ENSG00000171606	13068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	deleterious(0.03)	.	ZN274_HUMAN	ZNF274	HGNC	M0QY30_HUMAN,M0QXW4_HUMAN	.	UPI000013D855	SNV	ZNF274,missense_variant,p.Pro98Arg,ENST00000594839,;ZNF274,missense_variant,p.Pro66Arg,ENST00000345813,;ZNF274,missense_variant,p.Pro98Arg,ENST00000326804,;ZNF274,5_prime_UTR_variant,,ENST00000424679,;ZNF274,non_coding_transcript_exon_variant,,ENST00000595772,;ZNF274,non_coding_transcript_exon_variant,,ENST00000599438,;ZNF274,non_coding_transcript_exon_variant,,ENST00000597818,;ZNF274,non_coding_transcript_exon_variant,,ENST00000601777,;ZNF274,downstream_gene_variant,,ENST00000601995,;ZNF274,non_coding_transcript_exon_variant,,ENST00000599081,;ZNF274,non_coding_transcript_exon_variant,,ENST00000598143,;ZNF274,non_coding_transcript_exon_variant,,ENST00000601156,;ZNF274,upstream_gene_variant,,ENST00000595146,;	752	78	96	SUCCESS
ZNF266	10781	.	GRCh37	19	9525003	9525003	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1411655596	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	63	0	ENST00000588221.1:c.598G>A	p.Ala200Thr	p.A200T	ENST00000588221		200	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS12213.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCAAGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF117,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000466714	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000592904	Transcript	.	.	ENSG00000174652	13059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.5)	.	ZN266_HUMAN	ZNF266	HGNC	K7EQP7_HUMAN	.	UPI00001D4705	SNV	ZNF266,missense_variant,p.Ala200Thr,ENST00000590306,;ZNF266,missense_variant,p.Ala200Thr,ENST00000361151,;ZNF266,missense_variant,p.Ala200Thr,ENST00000361451,;ZNF266,missense_variant,p.Ala200Thr,ENST00000588933,;ZNF266,missense_variant,p.Ala200Thr,ENST00000592904,;ZNF266,missense_variant,p.Ala200Thr,ENST00000588221,;ZNF266,missense_variant,p.Ala200Thr,ENST00000592292,;ZNF266,downstream_gene_variant,,ENST00000591213,;	2675	64	69	SUCCESS
VCAM1	7412	.	GRCh37	1	101185394	101185394	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	83	0	ENST00000294728.2:c.-23T>C		p.*8*	ENST00000294728	NM_001078.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS773.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTCTCAT	NONE	.	.	.	.	.	ENSP00000294728	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000294728	Transcript	.	.	ENSG00000162692	12663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VCAM1_HUMAN	VCAM1	HGNC	Q68DC4_HUMAN,G0ZI12_HUMAN,G0ZFQ0_HUMAN,F8UV74_HUMAN,F8UU18_HUMAN,F2YYR6_HUMAN	.	UPI0000000E06	SNV	VCAM1,5_prime_UTR_variant,,ENST00000347652,;VCAM1,5_prime_UTR_variant,,ENST00000370115,;VCAM1,5_prime_UTR_variant,,ENST00000294728,;VCAM1,5_prime_UTR_variant,,ENST00000370119,;	79	83	94	SUCCESS
PTCHD2	0	.	GRCh37	1	11574466	11574466	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779406722	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	55	0	ENST00000294484.6:c.1336G>T	p.Gly446Trp	p.G446W	ENST00000294484	NM_020780.1	446	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS41247.1	1336	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATGGGGGG	NONE	.	.	Superfamily_domains:SSF82866,Pfam_domain:PF02460,Gene3D:2j8sB01,hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	4/21	.	.	.	.	.	.	.	.	rs779406722	4/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Gly446Trp,ENST00000389575,;PTCHD2,missense_variant,p.Gly446Trp,ENST00000294484,;	1474	55	37	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	76	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	MUTECT|MUSE	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	76	71	SUCCESS
CD1E	913	.	GRCh37	1	158325807	158325807	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	79	0	ENST00000368167.3:c.816C>A	p.Thr272=	p.T272=	ENST00000368167	NM_030893.3	272	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS41417.1	816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACCCTGGA	BUFFER|p.R270*|c.808C>T|4	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF8,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000357149	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,synonymous_variant,p.%3D,ENST00000368165,;CD1E,synonymous_variant,p.%3D,ENST00000434258,;CD1E,synonymous_variant,p.%3D,ENST00000368166,;CD1E,synonymous_variant,p.%3D,ENST00000444681,;CD1E,synonymous_variant,p.%3D,ENST00000368160,;CD1E,synonymous_variant,p.%3D,ENST00000368167,;CD1E,synonymous_variant,p.%3D,ENST00000368156,;CD1E,synonymous_variant,p.%3D,ENST00000452291,;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368163,;CD1E,intron_variant,,ENST00000368161,;CD1E,intron_variant,,ENST00000368154,;CD1E,intron_variant,,ENST00000368164,;CD1E,intron_variant,,ENST00000368155,;CD1E,intron_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	1055	79	101	SUCCESS
USP21	27005	.	GRCh37	1	161132173	161132173	+	synonymous_variant	Silent	SNP	C	C	T	rs768269159	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	46	113	0	ENST00000289865.8:c.774C>T	p.Leu258=	p.L258=	ENST00000289865	NM_012475.4	258	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30920.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTCACTGA	NONE	byFrequency	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF365,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000356981	.	5/14	.	.	.	.	.	.	.	.	rs768269159	5/14	PASS	ENST00000368002	Transcript	.	.	ENSG00000143258	12620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP21_HUMAN	USP21	HGNC	.	.	UPI00001379FD	SNV	USP21,synonymous_variant,p.%3D,ENST00000289865,;USP21,synonymous_variant,p.%3D,ENST00000368001,;USP21,synonymous_variant,p.%3D,ENST00000368002,;PPOX,upstream_gene_variant,,ENST00000367999,;PPOX,upstream_gene_variant,,ENST00000352210,;USP21,downstream_gene_variant,,ENST00000479344,;PPOX,upstream_gene_variant,,ENST00000544598,;UFC1,downstream_gene_variant,,ENST00000368003,;PPOX,upstream_gene_variant,,ENST00000432542,;USP21,downstream_gene_variant,,ENST00000492950,;PPOX,upstream_gene_variant,,ENST00000535223,;RP11-297K8.2,upstream_gene_variant,,ENST00000420498,;USP21,non_coding_transcript_exon_variant,,ENST00000486299,;UFC1,downstream_gene_variant,,ENST00000473766,;PPOX,upstream_gene_variant,,ENST00000490768,;PPOX,upstream_gene_variant,,ENST00000497522,;PPOX,upstream_gene_variant,,ENST00000470607,;PPOX,upstream_gene_variant,,ENST00000495483,;UFC1,downstream_gene_variant,,ENST00000483191,;UFC1,downstream_gene_variant,,ENST00000467540,;PPOX,upstream_gene_variant,,ENST00000462866,;UFC1,downstream_gene_variant,,ENST00000463735,;USP21,upstream_gene_variant,,ENST00000493054,;USP21,non_coding_transcript_exon_variant,,ENST00000487163,;PPOX,upstream_gene_variant,,ENST00000468968,;USP21,upstream_gene_variant,,ENST00000485277,;PPOX,upstream_gene_variant,,ENST00000539753,;PPOX,upstream_gene_variant,,ENST00000479246,;USP21,upstream_gene_variant,,ENST00000482385,;	1151	113	138	SUCCESS
NR1I3	9970	.	GRCh37	1	161207865	161207865	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	47	0	ENST00000367982.4:c.-68T>C		p.*23*	ENST00000367982				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41429.1	.	RADIA|MUTECT|MUSE	.	AGGCCACAGAA	NONE	.	.	.	.	.	ENSP00000356959	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000367980	Transcript	.	.	ENSG00000143257	7969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NR1I3_HUMAN	NR1I3	HGNC	F1DAL4_HUMAN	.	UPI00003E7F93	SNV	NR1I3,5_prime_UTR_variant,,ENST00000504010,;NR1I3,5_prime_UTR_variant,,ENST00000511676,;NR1I3,5_prime_UTR_variant,,ENST00000512372,;NR1I3,5_prime_UTR_variant,,ENST00000367985,;NR1I3,5_prime_UTR_variant,,ENST00000367981,;NR1I3,5_prime_UTR_variant,,ENST00000412844,;NR1I3,5_prime_UTR_variant,,ENST00000367984,;NR1I3,5_prime_UTR_variant,,ENST00000428574,;NR1I3,5_prime_UTR_variant,,ENST00000515621,;NR1I3,5_prime_UTR_variant,,ENST00000367982,;NR1I3,5_prime_UTR_variant,,ENST00000367980,;NR1I3,5_prime_UTR_variant,,ENST00000506209,;NR1I3,5_prime_UTR_variant,,ENST00000508740,;NR1I3,5_prime_UTR_variant,,ENST00000511748,;NR1I3,5_prime_UTR_variant,,ENST00000437437,;NR1I3,5_prime_UTR_variant,,ENST00000502985,;NR1I3,5_prime_UTR_variant,,ENST00000367983,;NR1I3,5_prime_UTR_variant,,ENST00000511944,;NR1I3,5_prime_UTR_variant,,ENST00000515452,;NR1I3,5_prime_UTR_variant,,ENST00000505005,;NR1I3,5_prime_UTR_variant,,ENST00000508387,;NR1I3,5_prime_UTR_variant,,ENST00000442691,;NR1I3,upstream_gene_variant,,ENST00000367979,;NR1I3,non_coding_transcript_exon_variant,,ENST00000503547,;NR1I3,5_prime_UTR_variant,,ENST00000506018,;NR1I3,5_prime_UTR_variant,,ENST00000502848,;NR1I3,5_prime_UTR_variant,,ENST00000510951,;NR1I3,5_prime_UTR_variant,,ENST00000512340,;NR1I3,5_prime_UTR_variant,,ENST00000507215,;NR1I3,non_coding_transcript_exon_variant,,ENST00000505944,;NR1I3,non_coding_transcript_exon_variant,,ENST00000491193,;	136	47	49	SUCCESS
NR1I3	9970	.	GRCh37	1	161207867	161207867	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	47	0	ENST00000367982.4:c.-70T>G		p.*24*	ENST00000367982				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41429.1	.	RADIA|MUTECT|MUSE	.	GCCACAGAATC	NONE	.	.	.	.	.	ENSP00000356959	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000367980	Transcript	.	.	ENSG00000143257	7969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NR1I3_HUMAN	NR1I3	HGNC	F1DAL4_HUMAN	.	UPI00003E7F93	SNV	NR1I3,5_prime_UTR_variant,,ENST00000504010,;NR1I3,5_prime_UTR_variant,,ENST00000511676,;NR1I3,5_prime_UTR_variant,,ENST00000512372,;NR1I3,5_prime_UTR_variant,,ENST00000367985,;NR1I3,5_prime_UTR_variant,,ENST00000367981,;NR1I3,5_prime_UTR_variant,,ENST00000412844,;NR1I3,5_prime_UTR_variant,,ENST00000367984,;NR1I3,5_prime_UTR_variant,,ENST00000428574,;NR1I3,5_prime_UTR_variant,,ENST00000515621,;NR1I3,5_prime_UTR_variant,,ENST00000367982,;NR1I3,5_prime_UTR_variant,,ENST00000367980,;NR1I3,5_prime_UTR_variant,,ENST00000506209,;NR1I3,5_prime_UTR_variant,,ENST00000508740,;NR1I3,5_prime_UTR_variant,,ENST00000511748,;NR1I3,5_prime_UTR_variant,,ENST00000437437,;NR1I3,5_prime_UTR_variant,,ENST00000502985,;NR1I3,5_prime_UTR_variant,,ENST00000367983,;NR1I3,5_prime_UTR_variant,,ENST00000511944,;NR1I3,5_prime_UTR_variant,,ENST00000515452,;NR1I3,5_prime_UTR_variant,,ENST00000505005,;NR1I3,5_prime_UTR_variant,,ENST00000508387,;NR1I3,5_prime_UTR_variant,,ENST00000442691,;NR1I3,upstream_gene_variant,,ENST00000367979,;NR1I3,non_coding_transcript_exon_variant,,ENST00000503547,;NR1I3,5_prime_UTR_variant,,ENST00000506018,;NR1I3,5_prime_UTR_variant,,ENST00000502848,;NR1I3,5_prime_UTR_variant,,ENST00000510951,;NR1I3,5_prime_UTR_variant,,ENST00000512340,;NR1I3,5_prime_UTR_variant,,ENST00000507215,;NR1I3,non_coding_transcript_exon_variant,,ENST00000505944,;NR1I3,non_coding_transcript_exon_variant,,ENST00000491193,;	134	47	50	SUCCESS
ATF6	22926	.	GRCh37	1	161762113	161762114	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	24	0	ENST00000367942.3:c.687dup	p.Gly230ArgfsTer38	p.G230Rfs*38	ENST00000367942	NM_007348.3	228	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS1235.1	684-685	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCACTAAAGG	NONE	.	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF10	.	.	ENSP00000356919	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000367942	Transcript	.	.	ENSG00000118217	791	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATF6A_HUMAN	ATF6	HGNC	.	.	UPI000013D3E4	insertion	ATF6,frameshift_variant,p.Gly230ArgfsTer38,ENST00000367942,;	751-752	24	40	SUCCESS
RABGAP1L	9910	.	GRCh37	1	174957891	174957891	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	84	0	ENST00000325589.5:c.840C>A	p.Asp280Glu	p.D280E	ENST00000325589		280	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	.	.	840	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACTCACT	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF205,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000318603	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000325589	Transcript	.	.	ENSG00000152061	24663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.166)	.	tolerated(0.95)	.	RBG1L_HUMAN	RABGAP1L	HGNC	Q9UEL5_HUMAN	.	UPI0000073F62	SNV	RABGAP1L,missense_variant,p.Asp280Glu,ENST00000325589,;RABGAP1L,missense_variant,p.Asp230Glu,ENST00000392064,;RABGAP1L,missense_variant,p.Asp300Glu,ENST00000347255,;RABGAP1L,missense_variant,p.Asp299Glu,ENST00000367687,;RABGAP1L,missense_variant,p.Asp175Glu,ENST00000367688,;RABGAP1L,missense_variant,p.Asp292Glu,ENST00000489615,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000461613,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000367686,;RABGAP1L,intron_variant,,ENST00000485114,;RABGAP1L,3_prime_UTR_variant,,ENST00000469553,;	1235	84	82	SUCCESS
PADI4	23569	.	GRCh37	1	17690059	17690059	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772971178	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	75	0	ENST00000375448.4:c.1801C>A	p.Pro601Thr	p.P601T	ENST00000375448	NM_012387.2	601	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS180.1	1801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGCCCTTC	BUFFER|p.F602F|c.1806C>T|3	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF3,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364597	.	16/16	.	.	.	.	.	.	.	.	rs772971178	16/16	PASS	ENST00000375448	Transcript	.	.	ENSG00000159339	18368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PADI4_HUMAN	PADI4	HGNC	Q6EVJ1_HUMAN	.	UPI000013DFF1	SNV	PADI4,missense_variant,p.Pro601Thr,ENST00000375448,;PADI4,downstream_gene_variant,,ENST00000467001,;	1827	75	100	SUCCESS
LHX9	56956	.	GRCh37	1	197887089	197887089	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1170244333	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	74	0	ENST00000367387.4:c.136C>T	p.Arg46Cys	p.R46C	ENST00000367387	NM_020204.2	46	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS1393.1	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCGTCTG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF95	.	.	ENSP00000356357	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000367387	Transcript	.	.	ENSG00000143355	14222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	tolerated_low_confidence(0.06)	.	LHX9_HUMAN	LHX9	HGNC	.	.	UPI00001B6453	SNV	LHX9,missense_variant,p.Arg46Cys,ENST00000367387,;LHX9,missense_variant,p.Arg37Cys,ENST00000367390,;LHX9,missense_variant,p.Arg52Cys,ENST00000561173,;LHX9,missense_variant,p.Arg37Cys,ENST00000367391,;LHX9,missense_variant,p.Arg46Cys,ENST00000337020,;LHX9,synonymous_variant,p.%3D,ENST00000367388,;LHX9,non_coding_transcript_exon_variant,,ENST00000606127,;LHX9,non_coding_transcript_exon_variant,,ENST00000475727,;	561	74	98	SUCCESS
IPO9	55705	.	GRCh37	1	201817700	201817700	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	91	0	ENST00000361565.4:c.492T>C	p.His164=	p.H164=	ENST00000361565	NM_018085.4	164	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS1415.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATGGAGC	NONE	.	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354742	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000361565	Transcript	.	.	ENSG00000198700	19425	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO9_HUMAN	IPO9	HGNC	.	.	UPI000007304B	SNV	IPO9,synonymous_variant,p.%3D,ENST00000361565,;IPO9,non_coding_transcript_exon_variant,,ENST00000479374,;IPO9,non_coding_transcript_exon_variant,,ENST00000464348,;	561	91	97	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204210871	204210871	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	31	89	0	ENST00000272203.3:c.2244C>T	p.Ile748=	p.I748=	ENST00000272203	NM_014935.4	748	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS1444.1	2244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGATGTC	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	16/23	.	.	.	.	.	.	.	.	COSM678023	16/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,synonymous_variant,p.%3D,ENST00000414478,;PLEKHA6,synonymous_variant,p.%3D,ENST00000272203,;	2561	89	93	SUCCESS
CNTN2	6900	.	GRCh37	1	205041085	205041085	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	37	0	ENST00000331830.4:c.2555G>T	p.Trp852Leu	p.W852L	ENST00000331830	NM_005076.3	852	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS1449.1	2555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACTGGAAAG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50853	.	.	ENSP00000330633	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,missense_variant,p.Trp852Leu,ENST00000331830,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,upstream_gene_variant,,ENST00000525433,;	2839	37	48	SUCCESS
CR2	1380	.	GRCh37	1	207644213	207644213	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	64	0	ENST00000367058.3:c.1354C>G	p.Gln452Glu	p.Q452E	ENST00000367058	NM_001877.4	452	Cag/Gag	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS31007.1	1354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATACAGTGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.02)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Gln452Glu,ENST00000458541,;CR2,missense_variant,p.Gln452Glu,ENST00000367057,;CR2,missense_variant,p.Gln452Glu,ENST00000367058,;CR2,missense_variant,p.Gln452Glu,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;CR2,downstream_gene_variant,,ENST00000479186,;	1543	64	94	SUCCESS
KCNK2	3776	.	GRCh37	1	215259976	215259976	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	58	0	ENST00000444842.2:c.312C>G	p.Ser104=	p.S104=	ENST00000444842	NM_014217.3	104	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS41467.1	312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCCCAACA	NONE	.	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21,Prints_domain:PR01499	.	.	ENSP00000394033	.	2/7	.	.	.	.	.	.	.	.	COSM3483281,COSM3483280	2/7	PASS	ENST00000444842	Transcript	.	.	ENSG00000082482	6277	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	KCNK2_HUMAN	KCNK2	HGNC	C9JXY2_HUMAN,C9JDK1_HUMAN	.	UPI000013D4B8	SNV	KCNK2,synonymous_variant,p.%3D,ENST00000444842,;KCNK2,synonymous_variant,p.%3D,ENST00000478774,;KCNK2,synonymous_variant,p.%3D,ENST00000391895,;KCNK2,synonymous_variant,p.%3D,ENST00000457122,;KCNK2,synonymous_variant,p.%3D,ENST00000391894,;KCNK2,synonymous_variant,p.%3D,ENST00000486921,;KCNK2,synonymous_variant,p.%3D,ENST00000470177,;KCNK2,synonymous_variant,p.%3D,ENST00000474771,;KCNK2,synonymous_variant,p.%3D,ENST00000467031,;	462	58	89	SUCCESS
TGFB2	7042	.	GRCh37	1	218607497	218607497	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	62	113	0	ENST00000366930.4:c.584A>T	p.Glu195Val	p.E195V	ENST00000366930	NM_003238.3	195	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS44318.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAAGGCG	NONE	.	.	Prints_domain:PR01423,PIRSF_domain:PIRSF001787,Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141	.	.	ENSP00000355896	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000366929	Transcript	.	.	ENSG00000092969	11768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	tolerated(0.18)	.	TGFB2_HUMAN	TGFB2	HGNC	.	.	UPI000016B0C1	SNV	TGFB2,missense_variant,p.Glu223Val,ENST00000366929,;TGFB2,missense_variant,p.Glu195Val,ENST00000366930,;TGFB2,non_coding_transcript_exon_variant,,ENST00000488793,;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;	1135	113	141	SUCCESS
PLD5	200150	.	GRCh37	1	242271083	242271083	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	71	136	1	ENST00000442594.2:c.853A>T	p.Arg285Ter	p.R285*	ENST00000442594	NM_152666.2	285	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1621.2	1129	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTAACGC	BUFFER|p.R287*|c.859C>T|3,BUFFER|p.R379*|c.1135C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Pfam_domain:PF13918,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000440896	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,stop_gained,p.Arg377Ter,ENST00000536534,;PLD5,stop_gained,p.Arg315Ter,ENST00000427495,;PLD5,stop_gained,p.Arg285Ter,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1371	137	186	SUCCESS
STMN1	3925	.	GRCh37	1	26227524	26227524	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs769436611	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	41	100	0	ENST00000357865.2:c.433G>T	p.Glu145Ter	p.E145*	ENST00000357865		145	Gag/Tag	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44090.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCGTCAG	NONE	.	.	.	.	.	ENSP00000410452	.	.	.	.	.	.	.	.	.	.	rs769436611	.	PASS	ENST00000426559	Transcript	.	.	ENSG00000117632	6510	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STMN1_HUMAN	STMN1	HGNC	A2A2D0_HUMAN	.	UPI000191512D	SNV	STMN1,stop_gained,p.Glu145Ter,ENST00000399728,;STMN1,stop_gained,p.Glu145Ter,ENST00000374291,;STMN1,stop_gained,p.Glu145Ter,ENST00000357865,;STMN1,stop_gained,p.Glu145Ter,ENST00000455785,;STMN1,intron_variant,,ENST00000426559,;STMN1,downstream_gene_variant,,ENST00000446334,;STMN1,non_coding_transcript_exon_variant,,ENST00000465604,;STMN1,downstream_gene_variant,,ENST00000485226,;	.	100	115	SUCCESS
PTCH2	8643	.	GRCh37	1	45292375	45292375	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	34	0	ENST00000372192.3:c.2761G>A	p.Ala921Thr	p.A921T	ENST00000372192	NM_003738.4	921	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS516.1	2761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGCAGTCT	NONE	.	.	Pfam_domain:PF02460,Gene3D:2j8sB01,TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62	.	.	ENSP00000361266	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000372192	Transcript	.	.	ENSG00000117425	9586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.201)	.	deleterious(0.05)	.	PTC2_HUMAN	PTCH2	HGNC	.	.	UPI00001328B8	SNV	PTCH2,missense_variant,p.Ala921Thr,ENST00000447098,;PTCH2,missense_variant,p.Ala921Thr,ENST00000372192,;PTCH2,upstream_gene_variant,,ENST00000438067,;	2892	34	26	SUCCESS
INADL	0	.	GRCh37	1	62341008	62341008	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	133	378	0	ENST00000371158.2:c.2929A>C	p.Asn977His	p.N977H	ENST00000371158	NM_176877.2	977	Aat/Cat	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS617.2	2929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTAATTCA	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964	.	.	ENSP00000360200	.	21/43	.	.	.	.	.	.	.	.	.	21/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.51)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Asn977His,ENST00000316485,;INADL,missense_variant,p.Asn977His,ENST00000371158,;INADL,non_coding_transcript_exon_variant,,ENST00000488913,;INADL,missense_variant,p.Asn436His,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	3043	378	361	SUCCESS
FOXD3	27022	.	GRCh37	1	63788839	63788839	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	9	0	ENST00000371116.2:c.110A>G	p.Glu37Gly	p.E37G	ENST00000371116	NM_012183.2	37	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS624.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAGAAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF121,hmmpanther:PTHR11829	.	.	ENSP00000360157	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371116	Transcript	.	.	ENSG00000187140	3804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated_low_confidence(0.17)	.	FOXD3_HUMAN	FOXD3	HGNC	.	.	UPI000012ADCB	SNV	FOXD3,missense_variant,p.Glu37Gly,ENST00000371116,;RP4-792G4.2,intron_variant,,ENST00000431294,;RP4-792G4.2,intron_variant,,ENST00000427268,;RP4-792G4.2,upstream_gene_variant,,ENST00000418244,;RP4-792G4.2,upstream_gene_variant,,ENST00000449386,;RP4-792G4.2,upstream_gene_variant,,ENST00000426393,;	110	9	18	SUCCESS
LHX8	431707	.	GRCh37	1	75608866	75608866	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	24	71	0	ENST00000294638.5:c.453A>G	p.Arg151=	p.R151=	ENST00000294638	NM_001001933.1	151	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS30756.1	453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGAGCCAA	NONE	.	.	Superfamily_domains:SSF57716,SMART_domains:SM00132,Pfam_domain:PF00412,Gene3D:2.10.110.10,PROSITE_patterns:PS00478,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF9,PROSITE_profiles:PS50023	.	.	ENSP00000294638	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,synonymous_variant,p.%3D,ENST00000356261,;LHX8,synonymous_variant,p.%3D,ENST00000294638,;LHX8,downstream_gene_variant,,ENST00000559413,;	1117	71	89	SUCCESS
SSX2IP	117178	.	GRCh37	1	85121516	85121516	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	67	0	ENST00000342203.3:c.1388A>T	p.Glu463Val	p.E463V	ENST00000342203	NM_014021.3	463	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS699.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTCCAAT	NONE	.	.	hmmpanther:PTHR21736:SF12,hmmpanther:PTHR21736	.	.	ENSP00000340279	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000342203	Transcript	.	.	ENSG00000117155	16509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	deleterious(0)	.	ADIP_HUMAN	SSX2IP	HGNC	C9JIX7_HUMAN	.	UPI00000728CA	SNV	SSX2IP,missense_variant,p.Glu463Val,ENST00000342203,;SSX2IP,missense_variant,p.Glu463Val,ENST00000370612,;SSX2IP,missense_variant,p.Glu436Val,ENST00000605755,;SSX2IP,missense_variant,p.Glu436Val,ENST00000437941,;SSX2IP,intron_variant,,ENST00000603677,;SSX2IP,missense_variant,p.Glu463Val,ENST00000481102,;SSX2IP,missense_variant,p.Glu459Val,ENST00000476905,;SSX2IP,splice_region_variant,,ENST00000459708,;SSX2IP,downstream_gene_variant,,ENST00000460500,;SSX2IP,upstream_gene_variant,,ENST00000490476,;	1652	67	54	SUCCESS
CLCA2	9635	.	GRCh37	1	86913417	86913417	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	35	0	ENST00000370565.4:c.1940A>T	p.Glu647Val	p.E647V	ENST00000370565	NM_006536.5	647	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS708.1	1940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGAGACTG	NONE	.	.	hmmpanther:PTHR10579:SF39,hmmpanther:PTHR10579,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359596	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000370565	Transcript	.	.	ENSG00000137975	2016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.23)	.	CLCA2_HUMAN	CLCA2	HGNC	.	.	UPI0000035838	SNV	CLCA2,missense_variant,p.Glu647Val,ENST00000370565,;CLCA2,downstream_gene_variant,,ENST00000490884,;CLCA2,upstream_gene_variant,,ENST00000498802,;	2102	35	35	SUCCESS
CLCA4	22802	.	GRCh37	1	87029375	87029375	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	48	123	0	ENST00000370563.3:c.480C>G	p.Leu160=	p.L160=	ENST00000370563	NM_012128.3	160	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS41355.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCCGGTG	NONE	.	.	hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,Pfam_domain:PF08434,TIGRFAM_domain:TIGR00868	.	.	ENSP00000359594	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000370563	Transcript	.	.	ENSG00000016602	2018	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCA4_HUMAN	CLCA4	HGNC	Q9NXP1_HUMAN	.	UPI00000389E8	SNV	CLCA4,synonymous_variant,p.%3D,ENST00000370563,;CLCA4,5_prime_UTR_variant,,ENST00000263723,;	522	124	130	SUCCESS
CDK5RAP1	51654	.	GRCh37	20	31967440	31967440	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	83	0	ENST00000357886.4:c.976G>C	p.Glu326Gln	p.E326Q	ENST00000357886		326	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS13219.1	934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTCCGAAT	NONE	.	.	SMART_domains:SM00729,TIGRFAM_domain:TIGR00089,Gene3D:2qgqB01,Pfam_domain:PF04055,TIGRFAM_domain:TIGR01574,hmmpanther:PTHR11918:SF48,hmmpanther:PTHR11918,HAMAP:MF_01864	.	.	ENSP00000217372	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000346416	Transcript	.	.	ENSG00000101391	15880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.328)	.	tolerated(0.13)	.	CK5P1_HUMAN	CDK5RAP1	HGNC	Q53H36_HUMAN	.	UPI000004495E	SNV	CDK5RAP1,missense_variant,p.Glu312Gln,ENST00000346416,;CDK5RAP1,missense_variant,p.Glu326Gln,ENST00000357886,;CDK5RAP1,missense_variant,p.Glu312Gln,ENST00000544843,;CDK5RAP1,missense_variant,p.Glu222Gln,ENST00000473997,;CDK5RAP1,intron_variant,,ENST00000339269,;CDK5RAP1,intron_variant,,ENST00000427097,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000488723,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000477105,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000461356,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000498525,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000496381,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000471264,;CDK5RAP1,intron_variant,,ENST00000460043,;CDK5RAP1,intron_variant,,ENST00000481964,;CDK5RAP1,intron_variant,,ENST00000482967,;CDK5RAP1,upstream_gene_variant,,ENST00000473791,;	1088	83	98	SUCCESS
PREX1	57580	.	GRCh37	20	47267445	47267445	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1197607003	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	42	0	ENST00000371941.3:c.2804C>T	p.Ala935Val	p.A935V	ENST00000371941	NM_020820.3	935	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13410.1	2804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGCAATC	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	.	.	ENSP00000361009	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.05)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Ala935Val,ENST00000396220,;PREX1,missense_variant,p.Ala935Val,ENST00000371941,;PREX1,missense_variant,p.Ala257Val,ENST00000482556,;	2827	42	40	SUCCESS
FERMT1	55612	.	GRCh37	20	6057861	6057861	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773618744	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	51	0	ENST00000217289.4:c.1993G>A	p.Asp665Asn	p.D665N	ENST00000217289	NM_017671.4	665	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13098.1	1993	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCGAGTG	NONE	.	.	hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160	.	.	ENSP00000217289	.	15/15	.	.	.	.	.	.	.	.	rs773618744	15/15	PASS	ENST00000217289	Transcript	1	.	ENSG00000101311	15889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	tolerated(0.75)	.	FERM1_HUMAN	FERMT1	HGNC	Q5JWV4_HUMAN,G3V1L6_HUMAN	.	UPI00001285DD	SNV	FERMT1,missense_variant,p.Asp408Asn,ENST00000536936,;FERMT1,missense_variant,p.Asp665Asn,ENST00000217289,;FERMT1,non_coding_transcript_exon_variant,,ENST00000478194,;	2782	51	61	SUCCESS
PLCB1	23236	.	GRCh37	20	8862290	8862290	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	95	0	ENST00000338037.6:c.3445G>T	p.Glu1149Ter	p.E1149*	ENST00000338037	NM_015192.3	1149	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS13102.1	3445	MUTECT|MUSE	.	AGCAAGAATAC	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF08703,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448	.	.	ENSP00000338185	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,stop_gained,p.Glu1149Ter,ENST00000338037,;PLCB1,3_prime_UTR_variant,,ENST00000378641,;PLCB1,intron_variant,,ENST00000487210,;	3472	95	85	SUCCESS
PAK7	0	.	GRCh37	20	9546703	9546703	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	67	0	ENST00000353224.5:c.1319T>C	p.Val440Ala	p.V440A	ENST00000353224	NM_177990.2	440	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS13107.1	1319	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGACCACC	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Gene3D:3.30.200.20	.	.	ENSP00000367686	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Val440Ala,ENST00000378423,;PAK7,missense_variant,p.Val440Ala,ENST00000378429,;PAK7,missense_variant,p.Val440Ala,ENST00000353224,;	1866	67	50	SUCCESS
BAGE2	85319	.	GRCh37	21	11049620	11049620	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	T	rs770618336	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	471	28	507	0	ENST00000470054.1:n.489G>A		p.X163_splice	ENST00000470054		163		0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TCCTTCGCTAT	NONE	byFrequency	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	rs770618336	4/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,splice_region_variant,,ENST00000470054,;BAGE2,splice_region_variant,,ENST00000496773,;	489	507	499	SUCCESS
USP25	29761	.	GRCh37	21	17250204	17250204	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	54	161	0	ENST00000285679.6:c.2889C>T	p.Val963=	p.V963=	ENST00000285679	NM_013396.3	963	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33515.1	2889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTCCCATT	NONE	.	.	hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006	.	.	ENSP00000285679	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000285679	Transcript	.	.	ENSG00000155313	12624	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP25_HUMAN	USP25	HGNC	Q9HA22_HUMAN	.	UPI000002B680	SNV	USP25,synonymous_variant,p.%3D,ENST00000400183,;USP25,synonymous_variant,p.%3D,ENST00000351097,;USP25,synonymous_variant,p.%3D,ENST00000285679,;USP25,synonymous_variant,p.%3D,ENST00000285681,;USP25,downstream_gene_variant,,ENST00000449491,;USP25,non_coding_transcript_exon_variant,,ENST00000478932,;	3258	161	155	SUCCESS
ADAMTS1	9510	.	GRCh37	21	28210528	28210528	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	61	0	ENST00000284984.3:c.2274G>A	p.Gln758=	p.Q758=	ENST00000284984	NM_006988.3	758	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS33524.1	2274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTCTGGTT	NONE	.	.	hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986	.	.	ENSP00000284984	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000284984	Transcript	.	.	ENSG00000154734	217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS1_HUMAN	ADAMTS1	HGNC	E5RI60_HUMAN	.	UPI000013DDC6	SNV	ADAMTS1,synonymous_variant,p.%3D,ENST00000284984,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000492656,;	2729	61	64	SUCCESS
C2CD2	25966	.	GRCh37	21	43332526	43332526	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs776195297	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	40	0	ENST00000380486.3:c.868G>T	p.Val290Leu	p.V290L	ENST00000380486	NM_015500.1	290	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42933.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCACGACGC	NONE	byFrequency	.	hmmpanther:PTHR21119:SF6,hmmpanther:PTHR21119,Pfam_domain:PF00168,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000369853	.	7/14	.	.	.	.	.	.	.	.	rs776195297	7/14	PASS	ENST00000380486	Transcript	.	.	ENSG00000157617	1266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.64)	.	CU025_HUMAN	C2CD2	HGNC	.	.	UPI0000206BBE	SNV	C2CD2,missense_variant,p.Val135Leu,ENST00000329623,;C2CD2,missense_variant,p.Val290Leu,ENST00000380486,;C2CD2,non_coding_transcript_exon_variant,,ENST00000467074,;C2CD2,non_coding_transcript_exon_variant,,ENST00000490479,;C2CD2,non_coding_transcript_exon_variant,,ENST00000482084,;C2CD2,upstream_gene_variant,,ENST00000482186,;	1110	40	42	SUCCESS
APOBEC3B	9582	.	GRCh37	22	39388141	39388141	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs747995529	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	18	75	0	ENST00000333467.3:c.1123del	p.Ala375ProfsTer23	p.A375Pfs*23	ENST00000333467	NM_004900.4	374	cGg/cg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS13982.1	1121	INDELOCATOR|VARSCANI	.	GGCTGCGGGCCA	NONE	byFrequency	.	hmmpanther:PTHR13857:SF21,hmmpanther:PTHR13857	.	.	ENSP00000327459	.	7/8	.	.	.	.	.	.	.	.	rs747995529,COSM1416299	7/8	PASS	ENST00000333467	Transcript	.	.	ENSG00000179750	17352	2	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	ABC3B_HUMAN	APOBEC3B	HGNC	.	.	UPI00001318FE	deletion	APOBEC3B,frameshift_variant,p.Ala375ProfsTer5,ENST00000402182,;APOBEC3B,frameshift_variant,p.Ala350ProfsTer23,ENST00000407298,;APOBEC3B,frameshift_variant,p.Ala375ProfsTer23,ENST00000333467,;APOBEC3B-AS1,intron_variant,,ENST00000513758,;APOBEC3B,3_prime_UTR_variant,,ENST00000335760,;	1166	75	88	SUCCESS
SHANK3	85358	.	GRCh37	22	51143398	51143398	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs764037844	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	87	0	ENST00000262795.3:c.1951G>T	p.Gly651Trp	p.G651W	ENST00000262795	NM_033517.1	651	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	.	1951	MUTECT|MUSE	.	TGAACGGGGTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50106,hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000442518	.	17/23	.	.	.	.	.	.	.	.	rs764037844,COSM1035557	17/23	PASS	ENST00000262795	Transcript	.	.	ENSG00000251322	14294	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(1)	.	.	0,1	.	SHANK3	HGNC	F8TCV3_HUMAN,F2Z3L0_HUMAN	.	UPI0000DD85FB	SNV	SHANK3,missense_variant,p.Gly651Trp,ENST00000262795,;SHANK3,missense_variant,p.Gly636Trp,ENST00000445220,;SHANK3,missense_variant,p.Gly621Trp,ENST00000414786,;	1951	87	40	SUCCESS
LPIN1	23175	.	GRCh37	2	11922631	11922631	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	64	0	ENST00000256720.2:c.1154G>C	p.Arg385Thr	p.R385T	ENST00000256720	NM_145693.2	385	aGa/aCa	0	.	.	.	.	.	C	R/T	protein_coding	YES	CCDS58699.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGAGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181	.	.	ENSP00000397908	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000449576	Transcript	.	.	ENSG00000134324	13345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	deleterious(0.01)	.	.	LPIN1	HGNC	F5GY24_HUMAN,C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN	.	UPI0002064F62	SNV	LPIN1,missense_variant,p.Arg115Thr,ENST00000396097,;LPIN1,missense_variant,p.Arg470Thr,ENST00000449576,;LPIN1,missense_variant,p.Arg427Thr,ENST00000396099,;LPIN1,missense_variant,p.Arg385Thr,ENST00000256720,;LPIN1,missense_variant,p.Arg427Thr,ENST00000396098,;LPIN1,missense_variant,p.Arg391Thr,ENST00000425416,;LPIN1,upstream_gene_variant,,ENST00000454151,;LPIN1,upstream_gene_variant,,ENST00000404113,;LPIN1,splice_region_variant,,ENST00000460096,;LPIN1,upstream_gene_variant,,ENST00000475286,;LPIN1,upstream_gene_variant,,ENST00000464953,;	1462	64	63	SUCCESS
GLI2	2736	.	GRCh37	2	121747847	121747847	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	84	0	ENST00000361492.4:c.4357A>T	p.Met1453Leu	p.M1453L	ENST00000361492	NM_005270.4	1453	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS33283.1	4357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATGTAC	NONE	.	.	hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	deleterious(0.01)	.	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Met1453Leu,ENST00000452319,;GLI2,missense_variant,p.Met1453Leu,ENST00000361492,;GLI2,intron_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	4417	84	85	SUCCESS
AMER3	205147	.	GRCh37	2	131520150	131520150	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	28	0	ENST00000321420.4:c.505A>G	p.Asn169Asp	p.N169D	ENST00000321420		169	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS2164.1	505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAAACAAG	BUFFER|p.R167W|c.499C>T|3	.	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2,Pfam_domain:PF09422	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.859)	.	deleterious(0.01)	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,missense_variant,p.Asn169Asp,ENST00000458606,;AMER3,missense_variant,p.Asn169Asp,ENST00000321420,;AMER3,missense_variant,p.Asn169Asp,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000431758,;	615	28	30	SUCCESS
FMNL2	114793	.	GRCh37	2	153471456	153471456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	84	0	ENST00000288670.9:c.1154C>A	p.Ala385Asp	p.A385D	ENST00000288670	NM_052905.3	385	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS46429.1	1154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCTGAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06367,Superfamily_domains:SSF48371	.	.	ENSP00000288670	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000288670	Transcript	.	.	ENSG00000157827	18267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.655)	.	.	.	FMNL2_HUMAN	FMNL2	HGNC	B3KT32_HUMAN	.	UPI0000441EF9	SNV	FMNL2,missense_variant,p.Ala385Asp,ENST00000288670,;FMNL2,upstream_gene_variant,,ENST00000475377,;	1521	84	84	SUCCESS
ERMN	57471	.	GRCh37	2	158177872	158177872	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	121	0	ENST00000410096.1:c.766T>C	p.Ser256Pro	p.S256P	ENST00000410096	NM_020711.1	256	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS42764.1	805	MUTECT|MUSE	.	TCTGGAATAAG	NONE	.	.	hmmpanther:PTHR23281,Superfamily_domains:0036951	.	.	ENSP00000380453	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000397283	Transcript	.	.	ENSG00000136541	29208	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	ERMIN_HUMAN	ERMN	HGNC	C9JN04_HUMAN,C9J6B4_HUMAN,B4DKB4_HUMAN	.	UPI0000208F55	SNV	ERMN,missense_variant,p.Ser236Pro,ENST00000420719,;ERMN,missense_variant,p.Ser150Pro,ENST00000535935,;ERMN,missense_variant,p.Ser269Pro,ENST00000397283,;ERMN,missense_variant,p.Ser256Pro,ENST00000410096,;ERMN,downstream_gene_variant,,ENST00000409925,;ERMN,downstream_gene_variant,,ENST00000409216,;ERMN,downstream_gene_variant,,ENST00000419116,;ERMN,downstream_gene_variant,,ENST00000411762,;ERMN,downstream_gene_variant,,ENST00000420317,;ERMN,3_prime_UTR_variant,,ENST00000409395,;	1039	121	92	SUCCESS
TBR1	10716	.	GRCh37	2	162273138	162273138	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	28	57	0	ENST00000389554.3:c.217G>A	p.Asp73Asn	p.D73N	ENST00000389554	NM_006593.2	73	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33310.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGACTCA	NONE	.	.	hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267	.	.	ENSP00000374205	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000389554	Transcript	.	.	ENSG00000136535	11590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0.04)	.	TBR1_HUMAN	TBR1	HGNC	Q56A81_HUMAN,B0AZS4_HUMAN	.	UPI0000136A99	SNV	TBR1,missense_variant,p.Asp73Asn,ENST00000389554,;PSMD14,downstream_gene_variant,,ENST00000409682,;TBR1,upstream_gene_variant,,ENST00000411412,;TBR1,upstream_gene_variant,,ENST00000410035,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;PSMD14,downstream_gene_variant,,ENST00000492908,;PSMD14,downstream_gene_variant,,ENST00000477232,;	534	57	60	SUCCESS
LRP2	4036	.	GRCh37	2	170003385	170003385	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749138980	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	44	141	0	ENST00000263816.3:c.12675C>A	p.Phe4225Leu	p.F4225L	ENST00000263816	NM_004525.2	4225	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS2232.1	12675	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGAAAAC	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	69/79	.	.	.	.	.	.	.	.	rs749138980,COSM282504	69/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	.	.	0,1	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Phe4225Leu,ENST00000263816,;	12961	141	133	SUCCESS
TTN	7273	.	GRCh37	2	179479034	179479034	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	40	124	0	ENST00000591111.1:c.44167A>G	p.Thr14723Ala	p.T14723A	ENST00000591111		14723	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59435.1	49090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGTTACAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	262/363	.	.	.	.	.	.	.	.	.	262/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Thr7424Ala,ENST00000359218,;TTN,missense_variant,p.Thr14723Ala,ENST00000591111,;TTN,missense_variant,p.Thr16364Ala,ENST00000589042,;TTN,missense_variant,p.Thr13796Ala,ENST00000342992,;TTN,missense_variant,p.Thr7491Ala,ENST00000342175,;TTN,missense_variant,p.Thr7299Ala,ENST00000460472,;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;	49315	124	127	SUCCESS
TTN	7273	.	GRCh37	2	179489420	179489420	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	80	0	ENST00000591111.1:c.39664A>G	p.Thr13222Ala	p.T13222A	ENST00000591111		13222	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS59435.1	44587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCGTCTGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	242/363	.	.	.	.	.	.	.	.	.	242/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Thr5923Ala,ENST00000359218,;TTN,missense_variant,p.Thr5990Ala,ENST00000342175,;TTN,missense_variant,p.Thr12295Ala,ENST00000342992,;TTN,missense_variant,p.Thr13222Ala,ENST00000591111,;TTN,missense_variant,p.Thr14863Ala,ENST00000589042,;TTN,missense_variant,p.Thr5798Ala,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;	44812	80	82	SUCCESS
TTN	7273	.	GRCh37	2	179610184	179610184	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	15	0	ENST00000591111.1:c.10361-3536C>A		p.*3454*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	MUTECT|MUSE	.	TTTAGGGGTCT	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,3_prime_UTR_variant,,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	.	15	19	SUCCESS
SF3B1	23451	.	GRCh37	2	198266711	198266711	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	rs1380834335	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	55	149	0	ENST00000335508.6:c.2221A>C	p.Lys741Gln	p.K741Q	ENST00000335508	NM_012433.2	741	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS33356.1	2221	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTTCCTC	CODON|p.K741T|c.2222A>C|4,BUFFER|p.G740E|c.2219G>A|4	.	.	hmmpanther:PTHR12097,Superfamily_domains:SSF48371	.	.	ENSP00000335321	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000335508	Transcript	.	.	ENSG00000115524	10768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	SF3B1_HUMAN	SF3B1	HGNC	Q9NTB4_HUMAN,F8WC19_HUMAN	.	UPI000013D493	SNV	SF3B1,missense_variant,p.Lys741Gln,ENST00000335508,;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,downstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	2313	149	159	SUCCESS
SPEG	10290	.	GRCh37	2	220336992	220336992	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	30	0	ENST00000312358.7:c.3879T>C	p.Ala1293=	p.A1293=	ENST00000312358	NM_005876.4	1293	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS42824.1	3879	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCTGTGAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000311684	.	15/41	.	.	.	.	.	.	.	.	.	15/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,synonymous_variant,p.%3D,ENST00000312358,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000485069,;	4011	30	24	SUCCESS
ATAD2B	54454	.	GRCh37	2	24011501	24011501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	113	0	ENST00000238789.5:c.2657G>T	p.Arg886Ile	p.R886I	ENST00000238789	NM_001242338.1	886	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS46227.1	2657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTCTAAAG	NONE	.	.	hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000238789	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000238789	Transcript	.	.	ENSG00000119778	29230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.584)	.	tolerated(0.35)	.	ATD2B_HUMAN	ATAD2B	HGNC	B3KWS5_HUMAN	.	UPI00006C0425	SNV	ATAD2B,missense_variant,p.Arg886Ile,ENST00000238789,;ATAD2B,missense_variant,p.Arg167Ile,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000478885,;	3001	113	97	SUCCESS
ANO7	50636	.	GRCh37	2	242148731	242148731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	23	0	ENST00000274979.8:c.1271T>C	p.Val424Ala	p.V424A	ENST00000274979	NM_001001891.3	424	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33423.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGTGTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000274979	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000274979	Transcript	.	.	ENSG00000146205	31677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ANO7_HUMAN	ANO7	HGNC	.	.	UPI0000D612DB	SNV	ANO7,missense_variant,p.Val423Ala,ENST00000402430,;ANO7,missense_variant,p.Val424Ala,ENST00000274979,;ANO7,upstream_gene_variant,,ENST00000471606,;	1374	23	29	SUCCESS
ATG4B	23192	.	GRCh37	2	242590731	242590731	+	synonymous_variant	Silent	SNP	G	G	A	rs762783407	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	76	0	ENST00000404914.3:c.165G>A	p.Arg55=	p.R55=	ENST00000404914	NM_013325.4	55	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46564.1	165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGGAAAAA	NONE	.	.	hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF39,Pfam_domain:PF03416,Superfamily_domains:SSF54001	.	.	ENSP00000384259	.	3/13	.	.	.	.	.	.	.	.	rs762783407	3/13	PASS	ENST00000404914	Transcript	.	.	ENSG00000168397	20790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG4B_HUMAN	ATG4B	HGNC	F8WD71_HUMAN,C9JVD5_HUMAN,C9J3C0_HUMAN,C9J1C1_HUMAN	.	UPI00001AF16F	SNV	ATG4B,missense_variant,p.Gly11Glu,ENST00000474739,;ATG4B,synonymous_variant,p.%3D,ENST00000404914,;ATG4B,synonymous_variant,p.%3D,ENST00000425239,;ATG4B,synonymous_variant,p.%3D,ENST00000400771,;ATG4B,synonymous_variant,p.%3D,ENST00000405546,;ATG4B,5_prime_UTR_variant,,ENST00000419606,;ATG4B,5_prime_UTR_variant,,ENST00000396411,;ATG4B,5_prime_UTR_variant,,ENST00000402096,;ATG4B,5_prime_UTR_variant,,ENST00000430617,;ATG4B,upstream_gene_variant,,ENST00000429899,;ATG4B,non_coding_transcript_exon_variant,,ENST00000491867,;ATG4B,synonymous_variant,p.%3D,ENST00000415107,;ATG4B,synonymous_variant,p.%3D,ENST00000344376,;ATG4B,synonymous_variant,p.%3D,ENST00000400772,;ATG4B,non_coding_transcript_exon_variant,,ENST00000475195,;ATG4B,non_coding_transcript_exon_variant,,ENST00000479554,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;ATG4B,intron_variant,,ENST00000493618,;	268	76	68	SUCCESS
POMC	5443	.	GRCh37	2	25384341	25384341	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1203639783	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	11	0	ENST00000264708.3:c.413C>T	p.Ser138Phe	p.S138F	ENST00000264708		138	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS1717.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGGAGCGC	NONE	.	.	hmmpanther:PTHR11416,Pfam_domain:PF00976	.	.	ENSP00000384092	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000405623	Transcript	.	.	ENSG00000115138	9201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	COLI_HUMAN	POMC	HGNC	Q53WY7_HUMAN,K7R2J5_HUMAN,K7R2I7_HUMAN,K7QZC9_HUMAN,K7QZC2_HUMAN,K7QX47_HUMAN,E9PHK5_HUMAN,A6XND7_HUMAN	.	UPI0000127E5B	SNV	POMC,missense_variant,p.Ser138Phe,ENST00000264708,;POMC,missense_variant,p.Ser138Phe,ENST00000380794,;POMC,missense_variant,p.Ser138Phe,ENST00000449220,;POMC,missense_variant,p.Ser138Phe,ENST00000395826,;POMC,missense_variant,p.Ser138Phe,ENST00000405623,;RP11-509E16.1,downstream_gene_variant,,ENST00000567599,;	869	11	29	SUCCESS
CMPK2	129607	.	GRCh37	2	7003625	7003625	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	40	0	ENST00000256722.5:c.760G>A	p.Val254Ile	p.V254I	ENST00000256722	NM_207315.3	254	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS42648.1	760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAACCTGGA	NONE	.	.	hmmpanther:PTHR10344,hmmpanther:PTHR10344:SF2,Gene3D:3.40.50.300,PIRSF_domain:PIRSF019736,Superfamily_domains:SSF52540	.	.	ENSP00000256722	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000256722	Transcript	.	.	ENSG00000134326	27015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	deleterious(0.05)	.	CMPK2_HUMAN	CMPK2	HGNC	I1Z9C7_HUMAN	.	UPI000016014D	SNV	CMPK2,missense_variant,p.Val254Ile,ENST00000458098,;CMPK2,missense_variant,p.Val254Ile,ENST00000404168,;CMPK2,missense_variant,p.Val254Ile,ENST00000256722,;RSAD2,upstream_gene_variant,,ENST00000442639,;CMPK2,non_coding_transcript_exon_variant,,ENST00000465619,;CMPK2,non_coding_transcript_exon_variant,,ENST00000470479,;CMPK2,non_coding_transcript_exon_variant,,ENST00000478738,;RSAD2,upstream_gene_variant,,ENST00000474872,;CMPK2,upstream_gene_variant,,ENST00000491738,;	760	40	72	SUCCESS
MAT2A	4144	.	GRCh37	2	85770059	85770059	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	52	169	0	ENST00000306434.3:c.987T>C	p.Ser329=	p.S329=	ENST00000306434	NM_005911.5	329	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1977.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTATCTC	NONE	.	.	HAMAP:MF_00086,hmmpanther:PTHR11964,TIGRFAM_domain:TIGR01034,Pfam_domain:PF02773,Gene3D:3.30.300.10,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	.	.	ENSP00000303147	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000306434	Transcript	.	.	ENSG00000168906	6904	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	METK2_HUMAN	MAT2A	HGNC	B4DN45_HUMAN,B4DEX8_HUMAN	.	UPI0000000C32	SNV	MAT2A,synonymous_variant,p.%3D,ENST00000306434,;MAT2A,synonymous_variant,p.%3D,ENST00000409017,;GGCX,downstream_gene_variant,,ENST00000233838,;GGCX,downstream_gene_variant,,ENST00000465637,;MAT2A,downstream_gene_variant,,ENST00000490878,;MAT2A,non_coding_transcript_exon_variant,,ENST00000481412,;MAT2A,downstream_gene_variant,,ENST00000465151,;MAT2A,downstream_gene_variant,,ENST00000469221,;	1110	169	162	SUCCESS
IGSF11	152404	.	GRCh37	3	118647489	118647489	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	48	0	ENST00000393775.2:c.291C>T	p.Thr97=	p.T97=	ENST00000393775	NM_001015887.1	97	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS46891.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGGTGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF74,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000377370	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000393775	Transcript	.	.	ENSG00000144847	16669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGS11_HUMAN	IGSF11	HGNC	C9JAD3_HUMAN,C9IZX3_HUMAN	.	UPI000013D9B3	SNV	IGSF11,synonymous_variant,p.%3D,ENST00000425327,;IGSF11,synonymous_variant,p.%3D,ENST00000354673,;IGSF11,synonymous_variant,p.%3D,ENST00000489689,;IGSF11,synonymous_variant,p.%3D,ENST00000441144,;IGSF11,synonymous_variant,p.%3D,ENST00000483401,;IGSF11,synonymous_variant,p.%3D,ENST00000393775,;IGSF11,synonymous_variant,p.%3D,ENST00000491903,;IGSF11,downstream_gene_variant,,ENST00000480431,;IGSF11,non_coding_transcript_exon_variant,,ENST00000459718,;	597	48	65	SUCCESS
GPR156	165829	.	GRCh37	3	119885965	119885965	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375340933	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	53	0	ENST00000315843.3:c.2359G>T	p.Gly787Trp	p.G787W	ENST00000315843	NM_153002.2	787	Ggg/Tgg	0	A:0	.	.	.	.	A	G/W	protein_coding	YES	CCDS2997.1	2359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCCAGTAG	NONE	byCluster	.	.	.	A:0.0001	ENSP00000417261	.	10/10	.	.	.	.	.	.	.	.	rs375340933	10/10	PASS	ENST00000464295	Transcript	.	.	ENSG00000175697	20844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious(0.03)	.	GP156_HUMAN	GPR156	HGNC	.	.	UPI000004731C	SNV	GPR156,missense_variant,p.Gly787Trp,ENST00000315843,;GPR156,missense_variant,p.Gly783Trp,ENST00000461057,;GPR156,missense_variant,p.Gly787Trp,ENST00000464295,;GPR156,3_prime_UTR_variant,,ENST00000495912,;	2805	53	71	SUCCESS
MRPL47	57129	.	GRCh37	3	179310438	179310438	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	52	0	ENST00000476781.1:c.623T>G	p.Phe208Cys	p.F208C	ENST00000476781	NM_020409.2	208	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS3232.1	623	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGAGAAAATGG	NONE	.	.	hmmpanther:PTHR21183,hmmpanther:PTHR21183:SF18	.	.	ENSP00000417602	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000476781	Transcript	.	.	ENSG00000136522	16652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	RM47_HUMAN	MRPL47	HGNC	.	.	UPI000013D022	SNV	MRPL47,missense_variant,p.Phe208Cys,ENST00000476781,;MRPL47,missense_variant,p.Phe98Cys,ENST00000392659,;MRPL47,missense_variant,p.Phe188Cys,ENST00000259038,;ACTL6A,downstream_gene_variant,,ENST00000450518,;ACTL6A,downstream_gene_variant,,ENST00000392662,;ACTL6A,downstream_gene_variant,,ENST00000429709,;ACTL6A,downstream_gene_variant,,ENST00000461125,;	653	53	72	SUCCESS
TNK2	10188	.	GRCh37	3	195596397	195596397	+	intron_variant	Intron	SNP	C	C	T	rs770562169	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	22	0	ENST00000333602.6:c.1543+588G>A		p.*515*	ENST00000333602	NM_005781.4	583		0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS33927.1	1748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66	.	.	ENSP00000371341	.	12/15	.	.	.	.	.	.	.	.	rs770562169	12/15	PASS	ENST00000381916	Transcript	.	.	ENSG00000061938	19297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	ACK1_HUMAN	TNK2	HGNC	C9JDG3_HUMAN	.	UPI00004C9B08	SNV	TNK2,missense_variant,p.Arg72His,ENST00000416152,;TNK2,missense_variant,p.Arg583His,ENST00000381916,;TNK2,intron_variant,,ENST00000428187,;TNK2,intron_variant,,ENST00000392400,;TNK2,intron_variant,,ENST00000424563,;TNK2,intron_variant,,ENST00000333602,;TNK2,intron_variant,,ENST00000411741,;TNK2,downstream_gene_variant,,ENST00000316664,;TNK2,non_coding_transcript_exon_variant,,ENST00000495247,;TNK2,intron_variant,,ENST00000478623,;TNK2,downstream_gene_variant,,ENST00000486523,;TNK2,3_prime_UTR_variant,,ENST00000439230,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,non_coding_transcript_exon_variant,,ENST00000478715,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000420716,;TNK2,intron_variant,,ENST00000489628,;TNK2,downstream_gene_variant,,ENST00000468680,;	1893	22	23	SUCCESS
IQCG	84223	.	GRCh37	3	197670818	197670818	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	103	0	ENST00000265239.6:c.113C>T	p.Pro38Leu	p.P38L	ENST00000265239	NM_032263.3	38	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS3331.1	113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAGGTATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14871,hmmpanther:PTHR14871:SF1	.	.	ENSP00000265239	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000265239	Transcript	.	.	ENSG00000114473	25251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.26)	.	IQCG_HUMAN	IQCG	HGNC	C9JUC1_HUMAN,C9J6M9_HUMAN	.	UPI0000037D68	SNV	IQCG,missense_variant,p.Pro38Leu,ENST00000455191,;IQCG,missense_variant,p.Pro38Leu,ENST00000265239,;IQCG,missense_variant,p.Pro38Leu,ENST00000452735,;IQCG,missense_variant,p.Pro38Leu,ENST00000453254,;IQCG,missense_variant,p.Pro19Leu,ENST00000416896,;IQCG,non_coding_transcript_exon_variant,,ENST00000480302,;IQCG,non_coding_transcript_exon_variant,,ENST00000463651,;IQCG,upstream_gene_variant,,ENST00000490748,;	538	103	73	SUCCESS
CLASP2	23122	.	GRCh37	3	33638205	33638205	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	209	122	315	0	ENST00000468888.2:c.1949A>G	p.Asp650Gly	p.D650G	ENST00000468888		650	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	.	1949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCATCCAGC	NONE	.	.	hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567	.	.	ENSP00000419974	.	19/39	.	.	.	.	.	.	.	.	.	19/39	PASS	ENST00000468888	Transcript	.	.	ENSG00000163539	17078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.293)	.	tolerated(0.21)	.	.	CLASP2	HGNC	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN	.	UPI0001B7944B	SNV	CLASP2,missense_variant,p.Asp138Gly,ENST00000307312,;CLASP2,missense_variant,p.Asp649Gly,ENST00000359576,;CLASP2,missense_variant,p.Asp416Gly,ENST00000461133,;CLASP2,missense_variant,p.Asp649Gly,ENST00000399362,;CLASP2,missense_variant,p.Asp416Gly,ENST00000480013,;CLASP2,missense_variant,p.Asp401Gly,ENST00000539981,;CLASP2,missense_variant,p.Asp650Gly,ENST00000468888,;	1996	315	331	SUCCESS
USP19	10869	.	GRCh37	3	49153162	49153162	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	103	1	ENST00000398888.2:c.1378G>T	p.Ala460Ser	p.A460S	ENST00000398888	NM_006677.2	460	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS56254.1	1681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCCAGGT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404	.	.	ENSP00000401197	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.76)	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Ala563Ser,ENST00000417901,;USP19,missense_variant,p.Ala500Ser,ENST00000398892,;USP19,missense_variant,p.Ala500Ser,ENST00000398898,;USP19,missense_variant,p.Ala551Ser,ENST00000453664,;USP19,missense_variant,p.Ala561Ser,ENST00000434032,;USP19,missense_variant,p.Ala268Ser,ENST00000398896,;USP19,missense_variant,p.Ala460Ser,ENST00000398888,;USP19,missense_variant,p.Ala548Ser,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000491859,;	1893	104	123	SUCCESS
RHOA	387	.	GRCh37	3	49400013	49400013	+	synonymous_variant	Silent	SNP	G	G	A	rs749741822	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	109	0	ENST00000418115.1:c.324C>T	p.Pro108=	p.P108=	ENST00000418115	NM_001664.2	108	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2795.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTTGGGACA	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF100,hmmpanther:PTHR24072,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000400175	.	4/5	.	.	.	.	.	.	.	.	rs749741822,COSM3595270	4/5	PASS	ENST00000418115	Transcript	.	.	ENSG00000067560	667	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	RHOA_HUMAN	RHOA	HGNC	Q9BVT0_HUMAN,C9JNR4_HUMAN,B4DKN9_HUMAN	.	UPI0000046824	SNV	RHOA,missense_variant,p.Pro68Leu,ENST00000454011,;RHOA,synonymous_variant,p.%3D,ENST00000418115,;RHOA,synonymous_variant,p.%3D,ENST00000422781,;RHOA,synonymous_variant,p.%3D,ENST00000445425,;GPX1,upstream_gene_variant,,ENST00000419783,;GPX1,upstream_gene_variant,,ENST00000419349,;RHOA-IT1,downstream_gene_variant,,ENST00000428083,;GPX1,upstream_gene_variant,,ENST00000496791,;	709	109	98	SUCCESS
GPR62	118442	.	GRCh37	3	51990739	51990739	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	40	85	0	ENST00000322241.4:c.1071C>A	p.Pro357=	p.P357=	ENST00000322241	NM_080865.3	357	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2838.1	1071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCGCATA	NONE	.	.	hmmpanther:PTHR22752:SF6,hmmpanther:PTHR22752	.	.	ENSP00000319250	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322241	Transcript	.	.	ENSG00000180929	13301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR62_HUMAN	GPR62	HGNC	.	.	UPI0000457117	SNV	GPR62,synonymous_variant,p.%3D,ENST00000322241,;PCBP4,downstream_gene_variant,,ENST00000484633,;PCBP4,downstream_gene_variant,,ENST00000322099,;PCBP4,downstream_gene_variant,,ENST00000466412,;PCBP4,downstream_gene_variant,,ENST00000483411,;PCBP4,downstream_gene_variant,,ENST00000468324,;PCBP4,downstream_gene_variant,,ENST00000395014,;PCBP4,downstream_gene_variant,,ENST00000490063,;PCBP4,downstream_gene_variant,,ENST00000461554,;PCBP4,downstream_gene_variant,,ENST00000461544,;PCBP4,downstream_gene_variant,,ENST00000497653,;RP11-155D18.14,downstream_gene_variant,,ENST00000489595,;PCBP4,downstream_gene_variant,,ENST00000471622,;PCBP4,downstream_gene_variant,,ENST00000395013,;PCBP4,downstream_gene_variant,,ENST00000428823,;PCBP4,downstream_gene_variant,,ENST00000355852,;RP11-155D18.12,downstream_gene_variant,,ENST00000488257,;PCBP4,downstream_gene_variant,,ENST00000498822,;PCBP4,downstream_gene_variant,,ENST00000471308,;PCBP4,downstream_gene_variant,,ENST00000471358,;PCBP4,downstream_gene_variant,,ENST00000492809,;PCBP4,downstream_gene_variant,,ENST00000497390,;	1410	85	118	SUCCESS
EPHA6	285220	.	GRCh37	3	97185271	97185271	+	intron_variant	Intron	SNP	A	A	C	rs757163229	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	63	0	ENST00000389672.5:c.1895-8925A>C		p.*632*	ENST00000389672	NM_001080448.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46876.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCATTTCA	NONE	.	.	.	.	.	ENSP00000374323	.	.	.	.	.	.	.	.	.	.	rs757163229	.	PASS	ENST00000389672	Transcript	.	.	ENSG00000080224	19296	.	.	MODIFIER	7/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EPHA6	HGNC	H0Y8K5_HUMAN	.	UPI000004BB12	SNV	EPHA6,synonymous_variant,p.%3D,ENST00000502694,;EPHA6,synonymous_variant,p.%3D,ENST00000514100,;EPHA6,intron_variant,,ENST00000442602,;EPHA6,intron_variant,,ENST00000389672,;EPHA6,synonymous_variant,p.%3D,ENST00000503760,;EPHA6,intron_variant,,ENST00000477384,;EPHA6,intron_variant,,ENST00000508345,;	.	63	63	SUCCESS
GABRR3	200959	.	GRCh37	3	97736568	97736568	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	42	1	ENST00000472788.1:c.239-2A>T		p.X80_splice	ENST00000472788	NM_001105580.2	80		0	.	.	.	.	.	A	.	retained_intron	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GACCCTTAAGA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000470589	Transcript	.	.	ENSG00000183185	17969	.	.	HIGH	3/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GABRR3	HGNC	.	.	.	SNV	GABRR3,splice_acceptor_variant,,ENST00000470589,;GABRR3,splice_acceptor_variant,,ENST00000472788,;	.	43	40	SUCCESS
ADH1A	124	.	GRCh37	4	100205700	100205700	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	106	0	ENST00000209668.2:c.423C>A	p.Phe141Leu	p.F141L	ENST00000209668	NM_000667.3	141	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS3648.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGAAGTG	NONE	.	.	Superfamily_domains:SSF50129,SMART_domains:SM00829,Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376	.	.	ENSP00000209668	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000209668	Transcript	.	.	ENSG00000187758	249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	tolerated(0.07)	.	ADH1A_HUMAN	ADH1A	HGNC	.	.	UPI0000062219	SNV	ADH1A,missense_variant,p.Phe141Leu,ENST00000209668,;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,downstream_gene_variant,,ENST00000506160,;ADH1A,downstream_gene_variant,,ENST00000511656,;ADH1A,intron_variant,,ENST00000503461,;	537	106	127	SUCCESS
MTTP	4547	.	GRCh37	4	100532577	100532577	+	synonymous_variant	Silent	SNP	G	G	A	rs369415595	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	51	141	0	ENST00000265517.5:c.1956G>A	p.Gln652=	p.Q652=	ENST00000265517		652	caG/caA	0	A:0.0002	.	.	.	.	A	Q	protein_coding	YES	CCDS3651.1	1956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGTACAT	NONE	byCluster	.	hmmpanther:PTHR13024:SF1,hmmpanther:PTHR13024,PROSITE_profiles:PS51211	.	A:0	ENSP00000400821	.	15/19	.	.	.	.	.	.	.	.	rs369415595	15/19	PASS	ENST00000457717	Transcript	1	.	ENSG00000138823	7467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTP_HUMAN	MTTP	HGNC	.	.	UPI000012F826	SNV	MTTP,synonymous_variant,p.%3D,ENST00000457717,;MTTP,synonymous_variant,p.%3D,ENST00000511045,;MTTP,synonymous_variant,p.%3D,ENST00000265517,;RP11-766F14.1,intron_variant,,ENST00000508578,;	2212	141	136	SUCCESS
H2AFZ	0	.	GRCh37	4	100870052	100870052	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	47	158	0	ENST00000296417.5:c.241C>T	p.Arg81Cys	p.R81C	ENST00000296417	NM_002106.3	81	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS3654.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACGCTTTA	NONE	.	.	hmmpanther:PTHR23430:SF34,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000296417	.	4/5	.	.	.	.	.	.	.	.	COSM1485558	4/5	PASS	ENST00000296417	Transcript	.	.	ENSG00000164032	4741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.081)	.	deleterious(0.03)	1	H2AZ_HUMAN	H2AFZ	HGNC	.	.	UPI0000000FEF	SNV	H2AFZ,missense_variant,p.Arg81Cys,ENST00000296417,;DNAJB14,upstream_gene_variant,,ENST00000442697,;RP11-15B17.1,upstream_gene_variant,,ENST00000507494,;RP11-15B17.1,upstream_gene_variant,,ENST00000501976,;RP11-15B17.1,upstream_gene_variant,,ENST00000514624,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000529158,;DNAJB14,upstream_gene_variant,,ENST00000471738,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511319,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511348,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000527366,;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511203,;DNAJB14,upstream_gene_variant,,ENST00000398991,;DNAJB14,upstream_gene_variant,,ENST00000474664,;DNAJB14,upstream_gene_variant,,ENST00000334223,;DNAJB14,upstream_gene_variant,,ENST00000469942,;DNAJB14,upstream_gene_variant,,ENST00000426476,;	459	158	156	SUCCESS
BOD1L1	259282	.	GRCh37	4	13610294	13610294	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	33	78	0	ENST00000040738.5:c.1604-2A>G		p.X535_splice	ENST00000040738	NM_148894.2	535		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3411.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTAGAAA	NONE	.	.	.	.	.	ENSP00000040738	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	HIGH	7/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,splice_acceptor_variant,,ENST00000040738,;BOD1L1,downstream_gene_variant,,ENST00000482713,;	.	78	77	SUCCESS
GUCY1B3	0	.	GRCh37	4	156724875	156724875	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs779977663	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	47	0	ENST00000264424.8:c.1513G>T	p.Glu505Ter	p.E505*	ENST00000264424	NM_000857.2	505	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47154.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGAAATT	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF30,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000264424	.	11/14	.	.	.	.	.	.	.	.	rs779977663	11/14	PASS	ENST00000264424	Transcript	.	.	ENSG00000061918	4687	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCYB1_HUMAN	GUCY1B3	HGNC	B7Z685_HUMAN	.	UPI0000033344	SNV	GUCY1B3,stop_gained,p.Glu472Ter,ENST00000503520,;GUCY1B3,stop_gained,p.Glu437Ter,ENST00000513437,;GUCY1B3,stop_gained,p.Glu505Ter,ENST00000264424,;GUCY1B3,stop_gained,p.Glu527Ter,ENST00000502959,;GUCY1B3,stop_gained,p.Glu480Ter,ENST00000507146,;GUCY1B3,stop_gained,p.Glu485Ter,ENST00000505764,;GUCY1B3,stop_gained,p.Glu437Ter,ENST00000505154,;	1595	47	57	SUCCESS
GRIA2	2891	.	GRCh37	4	158281153	158281153	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749173821	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	87	0	ENST00000264426.9:c.2149T>C	p.Ser717Pro	p.S717P	ENST00000264426	NM_001083619.1	717	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3797.1	2149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTCCAAA	NONE	byFrequency	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000296526	.	13/16	.	.	.	.	.	.	.	.	rs749173821	13/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,missense_variant,p.Ser717Pro,ENST00000264426,;GRIA2,missense_variant,p.Ser670Pro,ENST00000507898,;GRIA2,missense_variant,p.Ser670Pro,ENST00000393815,;GRIA2,missense_variant,p.Ser717Pro,ENST00000296526,;GRIA2,missense_variant,p.Ser670Pro,ENST00000449365,;GRIA2,missense_variant,p.Ser48Pro,ENST00000510854,;AC079233.1,upstream_gene_variant,,ENST00000578227,;GRIA2,missense_variant,p.Ser670Pro,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;GRIA2,upstream_gene_variant,,ENST00000503980,;	2474	87	85	SUCCESS
C4orf45	152940	.	GRCh37	4	159956201	159956201	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs750245733	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	76	0	ENST00000434826.2:c.48A>C	p.Lys16Asn	p.K16N	ENST00000434826	NM_152543.2	16	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS47156.1	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGTTTTCC	NONE	byFrequency	.	.	.	.	ENSP00000412215	.	1/5	.	.	.	.	.	.	.	.	rs750245733	1/5	PASS	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	deleterious(0.04)	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,missense_variant,p.Lys16Asn,ENST00000434826,;C4orf45,intron_variant,,ENST00000508011,;	133	76	81	SUCCESS
C4orf47	441054	.	GRCh37	4	186366160	186366160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	7	189	0	ENST00000378850.4:c.757C>A	p.His253Asn	p.H253N	ENST00000378850	NM_001114357.1	253	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS47169.1	757	MUTECT|MUSE	.	CATCACATTCT	NONE	.	.	hmmpanther:PTHR31144,hmmpanther:PTHR31144:SF1,Pfam_domain:PF15239	.	.	ENSP00000368127	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000378850	Transcript	.	.	ENSG00000205129	34346	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	CD047_HUMAN	C4orf47	HGNC	D6RCA9_HUMAN,D6R9T4_HUMAN	.	UPI0000422C9D	SNV	C4orf47,missense_variant,p.His253Asn,ENST00000378850,;CCDC110,downstream_gene_variant,,ENST00000307588,;CCDC110,downstream_gene_variant,,ENST00000393540,;C4orf47,3_prime_UTR_variant,,ENST00000508698,;CCDC110,downstream_gene_variant,,ENST00000508538,;C4orf47,downstream_gene_variant,,ENST00000512770,;	779	189	153	SUCCESS
FAM86EP	348926	.	GRCh37	4	3951245	3951245	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	86	0	ENST00000313946.8:n.156-1298A>T		p.*52*	ENST00000313946				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTCGTCC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000313946	Transcript	.	.	ENSG00000251669	28017	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM86EP	HGNC	.	.	.	SNV	FAM86EP,non_coding_transcript_exon_variant,,ENST00000504375,;AC226119.5,non_coding_transcript_exon_variant,,ENST00000281228,;FAM86EP,intron_variant,,ENST00000502255,;FAM86EP,intron_variant,,ENST00000511488,;AC226119.5,intron_variant,,ENST00000514073,;FAM86EP,intron_variant,,ENST00000512092,;FAM86EP,intron_variant,,ENST00000313946,;FAM86EP,intron_variant,,ENST00000507301,;FAM86EP,intron_variant,,ENST00000510565,;FAM86EP,intron_variant,,ENST00000506770,;FAM86EP,non_coding_transcript_exon_variant,,ENST00000510506,;	.	86	76	SUCCESS
KDR	3791	.	GRCh37	4	55963911	55963911	+	synonymous_variant	Silent	SNP	G	G	C	rs1346329555	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	43	0	ENST00000263923.4:c.2532C>G	p.Ala844=	p.A844=	ENST00000263923	NM_002253.2	844	gcC/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS3497.1	2532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAAGGCACC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000263923	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,synonymous_variant,p.%3D,ENST00000263923,;KDR,upstream_gene_variant,,ENST00000509309,;	2828	43	54	SUCCESS
CCSER1	401145	.	GRCh37	4	91645123	91645123	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	125	339	0	ENST00000509176.1:c.1991A>T	p.Glu664Val	p.E664V	ENST00000509176	NM_001145065.1	664	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS47099.1	1991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGAAGAGC	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Glu664Val,ENST00000509176,;CCSER1,missense_variant,p.Glu664Val,ENST00000432775,;CCSER1,missense_variant,p.Glu17Val,ENST00000503421,;CCSER1,missense_variant,p.Glu664Val,ENST00000333691,;CCSER1,non_coding_transcript_exon_variant,,ENST00000504150,;CCSER1,missense_variant,p.Glu90Val,ENST00000513522,;CCSER1,missense_variant,p.Glu17Val,ENST00000509109,;CCSER1,missense_variant,p.Glu17Val,ENST00000510519,;CCSER1,3_prime_UTR_variant,,ENST00000505073,;	2279	339	323	SUCCESS
TRIM36	55521	.	GRCh37	5	114506870	114506870	+	intron_variant	Intron	SNP	G	G	A	rs1285432262	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	81	0	ENST00000282369.3:c.64-7421C>T		p.*22*	ENST00000282369	NM_018700.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4115.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCGTCTTC	NONE	.	.	.	.	.	ENSP00000282369	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000282369	Transcript	.	.	ENSG00000152503	16280	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI36_HUMAN	TRIM36	HGNC	E9PBG3_HUMAN	.	UPI000013DCD9	SNV	TRIM36,missense_variant,p.Thr38Met,ENST00000379618,;TRIM36,intron_variant,,ENST00000514154,;TRIM36,intron_variant,,ENST00000282369,;TRIM36,upstream_gene_variant,,ENST00000508894,;TRIM36,upstream_gene_variant,,ENST00000513154,;TRIM36,non_coding_transcript_exon_variant,,ENST00000511701,;TRIM36,upstream_gene_variant,,ENST00000510222,;TRIM36,upstream_gene_variant,,ENST00000515104,;	.	81	118	SUCCESS
CXCL14	9547	.	GRCh37	5	134914414	134914414	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	30	37	0	ENST00000337225.5:c.91C>T	p.Arg31Cys	p.R31C	ENST00000337225	NM_004887.4	31	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4188.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGCGCGG	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF54117,hmmpanther:PTHR15188	.	.	ENSP00000337065	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000337225	Transcript	.	.	ENSG00000145824	10640	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	deleterious_low_confidence(0.05)	.	CXL14_HUMAN	CXCL14	HGNC	.	.	UPI000003B10C	SNV	CXCL14,missense_variant,p.Arg31Cys,ENST00000337225,;CXCL14,missense_variant,p.Arg19Cys,ENST00000512158,;CTC-321K16.1,intron_variant,,ENST00000509372,;CTC-321K16.1,upstream_gene_variant,,ENST00000514446,;	556	37	48	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215935	140215935	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1454301862	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	51	0	ENST00000525929.1:c.1967A>T	p.Glu656Val	p.E656V	ENST00000525929	NM_018910.2	656	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54918.1	1967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGAGCCCT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious_low_confidence(0)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Glu656Val,ENST00000378125,;PCDHA7,missense_variant,p.Glu656Val,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA8,upstream_gene_variant,,ENST00000531613,;PCDHA8,upstream_gene_variant,,ENST00000378123,;	1967	51	72	SUCCESS
ARHGEF37	389337	.	GRCh37	5	148996303	148996303	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1345727536	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	30	101	0	ENST00000333677.6:c.632A>G	p.Asn211Ser	p.N211S	ENST00000333677	NM_001001669.2	211	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43385.1	632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCAATGAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50010,hmmpanther:PTHR22834:SF9,hmmpanther:PTHR22834,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000328083	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000333677	Transcript	.	.	ENSG00000183111	34430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ARH37_HUMAN	ARHGEF37	HGNC	D6RJH4_HUMAN	.	UPI00001D7F04	SNV	ARHGEF37,missense_variant,p.Asn211Ser,ENST00000333677,;	795	101	136	SUCCESS
TENM2	57451	.	GRCh37	5	167645700	167645700	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	34	99	0	ENST00000518659.1:c.4804C>G	p.His1602Asp	p.H1602D	ENST00000518659	NM_001122679.1	1602	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	.	4804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCCACCAA	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,Superfamily_domains:SSF50969	.	.	ENSP00000429430	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.His1601Asp,ENST00000545108,;TENM2,missense_variant,p.His1363Asp,ENST00000520394,;TENM2,missense_variant,p.His1481Asp,ENST00000519204,;TENM2,missense_variant,p.His1602Asp,ENST00000518659,;TENM2,missense_variant,p.His1426Asp,ENST00000403607,;	4843	99	177	SUCCESS
FAM196B	0	.	GRCh37	5	169310676	169310676	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1315819814	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	66	0	ENST00000377365.3:c.227C>T	p.Pro76Leu	p.P76L	ENST00000377365	NM_001129891.1	76	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47336.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGGAAGA	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000366582	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000377365	Transcript	.	.	ENSG00000204767	37271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	F196B_HUMAN	FAM196B	HGNC	.	.	UPI0000480500	SNV	FAM196B,missense_variant,p.Pro76Leu,ENST00000377365,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000256935,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	1609	66	97	SUCCESS
PHYKPL	85007	.	GRCh37	5	177649437	177649437	+	synonymous_variant	Silent	SNP	G	G	A	rs760765398	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	68	98	1	ENST00000308158.5:c.846C>T	p.Asn282=	p.N282=	ENST00000308158	NM_001278346.1	282	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4434.1	846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGTTGCC	NONE	byFrequency	.	hmmpanther:PTHR11986:SF52,hmmpanther:PTHR11986,PROSITE_patterns:PS00600,Pfam_domain:PF00202,Gene3D:3.40.640.10,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000310978	.	8/13	.	.	.	.	.	.	.	.	rs760765398	8/13	PASS	ENST00000308158	Transcript	1	.	ENSG00000175309	28249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2L2_HUMAN	PHYKPL	HGNC	H0YAK5_HUMAN	.	UPI00000746D3	SNV	PHYKPL,synonymous_variant,p.%3D,ENST00000308158,;PHYKPL,downstream_gene_variant,,ENST00000323594,;PHYKPL,intron_variant,,ENST00000481811,;PHYKPL,downstream_gene_variant,,ENST00000511716,;PHYKPL,synonymous_variant,p.%3D,ENST00000393488,;PHYKPL,3_prime_UTR_variant,,ENST00000474052,;PHYKPL,3_prime_UTR_variant,,ENST00000493197,;PHYKPL,3_prime_UTR_variant,,ENST00000506045,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000489262,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000476487,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000494126,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000481436,;PHYKPL,intron_variant,,ENST00000510991,;PHYKPL,downstream_gene_variant,,ENST00000510913,;PHYKPL,downstream_gene_variant,,ENST00000506001,;PHYKPL,downstream_gene_variant,,ENST00000504096,;PHYKPL,downstream_gene_variant,,ENST00000514424,;	1081	99	149	SUCCESS
C5orf55	0	.	GRCh37	5	442609	442609	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	17	0	ENST00000408966.2:c.329C>T	p.Ser110Leu	p.S110L	ENST00000408966	NM_138464.2	110	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43298.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGACCCA	NONE	.	.	.	.	.	ENSP00000386139	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408966	Transcript	.	.	ENSG00000221990	25175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.504)	.	deleterious_low_confidence(0)	.	CE055_HUMAN	C5orf55	HGNC	.	.	UPI00000718E4	SNV	C5orf55,missense_variant,p.Ser110Leu,ENST00000408966,;EXOC3,upstream_gene_variant,,ENST00000508022,;EXOC3,upstream_gene_variant,,ENST00000315013,;EXOC3,upstream_gene_variant,,ENST00000512944,;AHRR,downstream_gene_variant,,ENST00000316418,;EXOC3,upstream_gene_variant,,ENST00000510441,;EXOC3,upstream_gene_variant,,ENST00000515601,;	650	17	36	SUCCESS
CCNO	10309	.	GRCh37	5	54528358	54528358	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1554020012	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	53	58	0	ENST00000282572.4:c.398G>T	p.Arg133Leu	p.R133L	ENST00000282572	NM_021147.3	133	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS34157.1	398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGCGGGAT	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF14,Pfam_domain:PF00134,Gene3D:1.10.472.10,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954	.	.	ENSP00000282572	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000282572	Transcript	1	.	ENSG00000152669	18576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	CCNO_HUMAN	CCNO	HGNC	.	.	UPI000020C764	SNV	CCNO,missense_variant,p.Arg133Leu,ENST00000282572,;RP11-506H20.1,upstream_gene_variant,,ENST00000506435,;CCNO,3_prime_UTR_variant,,ENST00000501463,;	555	58	107	SUCCESS
ACOT12	134526	.	GRCh37	5	80640019	80640019	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs533220517	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	47	141	0	ENST00000307624.3:c.940T>G	p.Tyr314Asp	p.Y314D	ENST00000307624	NM_130767.2	314	Tat/Gat	0	.	C:0	.	C:0	.	C	Y/D	protein_coding	YES	CCDS4055.1	940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGATAGCGTC	NONE	by1000G	.	hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Gene3D:3.10.129.10,Superfamily_domains:SSF54637	C:0	.	ENSP00000303246	C:0	9/15	.	.	.	.	.	.	.	.	rs533220517	9/15	PASS	ENST00000307624	Transcript	.	C:0.0002	ENSG00000172497	24436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	C:0.001	deleterious(0)	.	ACO12_HUMAN	ACOT12	HGNC	.	.	UPI0000126D7B	SNV	ACOT12,missense_variant,p.Tyr314Asp,ENST00000307624,;ACOT12,non_coding_transcript_exon_variant,,ENST00000508234,;	969	141	178	SUCCESS
PRDM1	639	.	GRCh37	6	106536266	106536266	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	71	0	ENST00000369096.4:c.233A>T	p.Gln78Leu	p.Q78L	ENST00000369096	NM_001198.3	78	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5054.2	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGGCGG	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,Gene3D:2.170.270.10,PIRSF_domain:PIRSF013212	.	.	ENSP00000358092	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000369096	Transcript	.	.	ENSG00000057657	9346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.481)	.	deleterious(0.01)	.	PRDM1_HUMAN	PRDM1	HGNC	Q5T4E8_HUMAN,B2REA5_HUMAN	.	UPI0000D49069	SNV	PRDM1,missense_variant,p.Gln42Leu,ENST00000424894,;PRDM1,missense_variant,p.Gln78Leu,ENST00000369096,;PRDM1,missense_variant,p.Gln42Leu,ENST00000369091,;PRDM1,non_coding_transcript_exon_variant,,ENST00000489365,;	467	71	62	SUCCESS
MYB	4602	.	GRCh37	6	135514982	135514982	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	57	0	ENST00000367814.4:c.769A>T	p.Ser257Cys	p.S257C	ENST00000367814	NM_001161659.1	257	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS47481.1	769	MUTECT|MUSE	.	TCTCCAGTCAT	NONE	.	.	hmmpanther:PTHR10641:SF454,hmmpanther:PTHR10641	.	.	ENSP00000339992	.	7/16	.	.	.	.	.	.	.	.	COSM1073607,COSM1073608	7/16	PASS	ENST00000341911	Transcript	.	.	ENSG00000118513	7545	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.646)	.	deleterious(0.03)	1,1	MYB_HUMAN	MYB	HGNC	Q9UMI7_HUMAN	.	UPI000002AE9A	SNV	MYB,missense_variant,p.Ser257Cys,ENST00000533624,;MYB,missense_variant,p.Ser257Cys,ENST00000527615,;MYB,missense_variant,p.Ser257Cys,ENST00000525369,;MYB,missense_variant,p.Ser257Cys,ENST00000442647,;MYB,missense_variant,p.Ser257Cys,ENST00000528774,;MYB,missense_variant,p.Ser211Cys,ENST00000430686,;MYB,missense_variant,p.Ser257Cys,ENST00000534044,;MYB,missense_variant,p.Ser257Cys,ENST00000534121,;MYB,missense_variant,p.Ser257Cys,ENST00000316528,;MYB,missense_variant,p.Ser257Cys,ENST00000367814,;MYB,missense_variant,p.Ser233Cys,ENST00000420123,;MYB,missense_variant,p.Ser257Cys,ENST00000341911,;MYB-AS1,downstream_gene_variant,,ENST00000455534,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,missense_variant,p.Ser257Cys,ENST00000533384,;MYB,missense_variant,p.Ser257Cys,ENST00000526320,;MYB,missense_variant,p.Ser257Cys,ENST00000525514,;MYB,missense_variant,p.Ser257Cys,ENST00000367812,;MYB,missense_variant,p.Ser257Cys,ENST00000339290,;MYB,missense_variant,p.Ser257Cys,ENST00000526187,;MYB,missense_variant,p.Ser257Cys,ENST00000529262,;MYB,missense_variant,p.Ser257Cys,ENST00000525002,;MYB,missense_variant,p.Ser257Cys,ENST00000526565,;MYB,missense_variant,p.Ser257Cys,ENST00000528343,;MYB,missense_variant,p.Ser257Cys,ENST00000529586,;MYB,missense_variant,p.Ser257Cys,ENST00000438901,;MYB,missense_variant,p.Ser257Cys,ENST00000533837,;MYB,missense_variant,p.Ser257Cys,ENST00000463282,;MYB,missense_variant,p.Ser257Cys,ENST00000525477,;MYB,missense_variant,p.Ser257Cys,ENST00000533808,;MYB,missense_variant,p.Ser257Cys,ENST00000528140,;MYB,missense_variant,p.Ser257Cys,ENST00000525940,;MYB,missense_variant,p.Ser233Cys,ENST00000528345,;MYB,missense_variant,p.Ser257Cys,ENST00000531519,;MYB,missense_variant,p.Ser257Cys,ENST00000528015,;MYB,missense_variant,p.Ser257Cys,ENST00000526889,;MYB,missense_variant,p.Ser257Cys,ENST00000531737,;MYB,3_prime_UTR_variant,,ENST00000524588,;MYB,3_prime_UTR_variant,,ENST00000531634,;MYB,upstream_gene_variant,,ENST00000534736,;	968	57	37	SUCCESS
JARID2	3720	.	GRCh37	6	15496837	15496837	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	12	0	ENST00000341776.2:c.1381A>G	p.Lys461Glu	p.K461E	ENST00000341776	NM_004973.3	461	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS4533.1	1381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGAAAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10694	.	.	ENSP00000341280	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000341776	Transcript	.	.	ENSG00000008083	6196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.82)	.	tolerated_low_confidence(0.07)	.	JARD2_HUMAN	JARID2	HGNC	Q96PA1_HUMAN	.	UPI0000161C67	SNV	JARID2,missense_variant,p.Lys289Glu,ENST00000397311,;JARID2,missense_variant,p.Lys423Glu,ENST00000541660,;JARID2,missense_variant,p.Lys461Glu,ENST00000341776,;JARID2,upstream_gene_variant,,ENST00000474854,;	1625	12	57	SUCCESS
WTAP	9589	.	GRCh37	6	160163131	160163131	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1192775013	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	58	221	1	ENST00000358372.4:c.98A>G	p.Tyr33Cys	p.Y33C	ENST00000358372	NM_004906.4	33	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS5266.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATATGAAG	NONE	.	.	hmmpanther:PTHR15217,hmmpanther:PTHR15217:SF0	.	.	ENSP00000351141	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000358372	Transcript	.	.	ENSG00000146457	16846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	tolerated(0.13)	.	FL2D_HUMAN	WTAP	HGNC	Q6AHX7_HUMAN	.	UPI0000070280	SNV	WTAP,missense_variant,p.Tyr33Cys,ENST00000358372,;WTAP,missense_variant,p.Tyr33Cys,ENST00000337387,;SOD2,intron_variant,,ENST00000537657,;SOD2,intron_variant,,ENST00000546087,;WTAP,non_coding_transcript_exon_variant,,ENST00000462110,;	1855	222	145	SUCCESS
BTN3A1	11119	.	GRCh37	6	26409957	26409957	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	20	0	ENST00000289361.6:c.912A>G	p.Thr304=	p.T304=	ENST00000289361	NM_001145009.1	304	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS4608.1	912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAAGAGG	NONE	.	.	hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF56	.	.	ENSP00000289361	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000289361	Transcript	.	.	ENSG00000026950	1138	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A1_HUMAN	BTN3A1	HGNC	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN	.	UPI000013C904	SNV	BTN3A1,synonymous_variant,p.%3D,ENST00000414912,;BTN3A1,synonymous_variant,p.%3D,ENST00000289361,;BTN3A1,synonymous_variant,p.%3D,ENST00000476549,;BTN3A1,synonymous_variant,p.%3D,ENST00000425234,;BTN3A1,downstream_gene_variant,,ENST00000506698,;BTN3A1,downstream_gene_variant,,ENST00000427334,;BTN3A1,downstream_gene_variant,,ENST00000450085,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000513047,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000502361,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;	1280	20	47	SUCCESS
GABBR1	2550	.	GRCh37	6	29572726	29572726	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	45	0	ENST00000377034.4:c.2479T>C	p.Ser827Pro	p.S827P	ENST00000377034	NM_001470.2	827	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4663.1	2479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGACAGAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50259,hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF00003	.	.	ENSP00000366233	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	tolerated(0.09)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Ser765Pro,ENST00000377016,;GABBR1,missense_variant,p.Ser710Pro,ENST00000355973,;GABBR1,missense_variant,p.Ser710Pro,ENST00000377012,;GABBR1,missense_variant,p.Ser827Pro,ENST00000377034,;GABBR1,3_prime_UTR_variant,,ENST00000376977,;GABBR1,3_prime_UTR_variant,,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000478931,;GABBR1,downstream_gene_variant,,ENST00000489839,;GABBR1,downstream_gene_variant,,ENST00000488334,;GABBR1,downstream_gene_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000473774,;	2815	45	69	SUCCESS
TTBK1	84630	.	GRCh37	6	43214466	43214466	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	18	99	0	ENST00000259750.4:c.68T>C	p.Ile23Thr	p.I23T	ENST00000259750	NM_032538.1	23	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34455.1	68	RADIA|MUTECT|MUSE|VARSCANS	.	CGACATCCTGC	NONE	.	.	hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909	.	.	ENSP00000259750	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,missense_variant,p.Ile23Thr,ENST00000259750,;TTBK1,upstream_gene_variant,,ENST00000304139,;	151	99	174	SUCCESS
PLA2G7	7941	.	GRCh37	6	46682256	46682256	+	synonymous_variant	Silent	SNP	A	A	T	rs1248455137	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	22	54	0	ENST00000274793.7:c.411T>A	p.Pro137=	p.P137=	ENST00000274793	NM_005084.3	137	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4917.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGAGGGGA	NONE	.	.	hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF9,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169	.	.	ENSP00000274793	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000274793	Transcript	.	.	ENSG00000146070	9040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAFA_HUMAN	PLA2G7	HGNC	.	.	UPI000002FED1	SNV	PLA2G7,synonymous_variant,p.%3D,ENST00000538237,;PLA2G7,synonymous_variant,p.%3D,ENST00000541026,;PLA2G7,synonymous_variant,p.%3D,ENST00000537365,;PLA2G7,synonymous_variant,p.%3D,ENST00000274793,;	608	54	113	SUCCESS
COL9A1	1297	.	GRCh37	6	71004221	71004221	+	synonymous_variant	Silent	SNP	C	C	A	rs777003491	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	38	114	1	ENST00000357250.6:c.345G>T	p.Thr115=	p.T115=	ENST00000357250	NM_001851.4	115	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4971.1	345	RADIA|SOMATICSNIPER|VARSCANS	.	AACGTCGTCAA	BUFFER|p.R118Q|c.353G>A|5	byFrequency	.	Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000349790	.	5/38	.	.	.	.	.	.	.	.	rs777003491	5/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,synonymous_variant,p.%3D,ENST00000370496,;COL9A1,synonymous_variant,p.%3D,ENST00000357250,;	504	116	67	SUCCESS
DSP	1832	.	GRCh37	6	7571705	7571705	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	39	81	0	ENST00000379802.3:c.1791A>T	p.Ser597=	p.S597=	ENST00000379802	NM_004415.2	597	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS4501.1	1791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCAGAGAT	NONE	.	.	hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	.	.	ENSP00000369129	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,synonymous_variant,p.%3D,ENST00000379802,;DSP,synonymous_variant,p.%3D,ENST00000418664,;	2132	81	163	SUCCESS
MUC17	140453	.	GRCh37	7	100683826	100683826	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1211394305	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	47	0	ENST00000306151.4:c.9129A>T	p.Glu3043Asp	p.E3043D	ENST00000306151	NM_001040105.1	3043	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS34711.1	9129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAAGGAAG	NONE	.	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Glu3043Asp,ENST00000306151,;MUC17,missense_variant,p.Glu3043Asp,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	9193	47	42	SUCCESS
DENND2A	27147	.	GRCh37	7	140221816	140221816	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	60	0	ENST00000275884.6:c.2750T>C	p.Phe917Ser	p.F917S	ENST00000275884		917	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS43659.1	2750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAACAAA	NONE	.	.	SMART_domains:SM00801,Pfam_domain:PF03455,hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288,PROSITE_profiles:PS50947	.	.	ENSP00000275884	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000275884	Transcript	.	.	ENSG00000146966	22212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.461)	.	tolerated(0.15)	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,missense_variant,p.Phe917Ser,ENST00000496613,;DENND2A,missense_variant,p.Phe917Ser,ENST00000537639,;DENND2A,missense_variant,p.Phe917Ser,ENST00000275884,;DENND2A,3_prime_UTR_variant,,ENST00000461883,;	3168	60	71	SUCCESS
DGKB	1607	.	GRCh37	7	14741336	14741336	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	58	195	1	ENST00000399322.3:c.486C>T	p.Asp162=	p.D162=	ENST00000399322	NM_004080.2	162	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS47547.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTGTCATA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11255:SF32,hmmpanther:PTHR11255,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000385780	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000403951	Transcript	.	.	ENSG00000136267	2850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKB_HUMAN	DGKB	HGNC	C9JA18_HUMAN,B7Z3B3_HUMAN	.	UPI0000033B9B	SNV	DGKB,synonymous_variant,p.%3D,ENST00000258767,;DGKB,synonymous_variant,p.%3D,ENST00000444700,;DGKB,synonymous_variant,p.%3D,ENST00000403951,;DGKB,synonymous_variant,p.%3D,ENST00000402815,;DGKB,synonymous_variant,p.%3D,ENST00000407950,;DGKB,synonymous_variant,p.%3D,ENST00000406247,;DGKB,synonymous_variant,p.%3D,ENST00000399322,;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;DGKB,intron_variant,,ENST00000471732,;DGKB,non_coding_transcript_exon_variant,,ENST00000477401,;DGKB,non_coding_transcript_exon_variant,,ENST00000464065,;	906	196	173	SUCCESS
ZNF398	57541	.	GRCh37	7	148876417	148876417	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	37	0	ENST00000475153.1:c.1453T>C	p.Cys485Arg	p.C485R	ENST00000475153		485	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS5894.1	1453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTGCCCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF9,PROSITE_profiles:PS50157	.	.	ENSP00000420418	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000475153	Transcript	.	.	ENSG00000197024	18373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN398_HUMAN	ZNF398	HGNC	.	.	UPI000000DA2F	SNV	ZNF398,missense_variant,p.Cys314Arg,ENST00000335901,;ZNF398,missense_variant,p.Cys314Arg,ENST00000483892,;ZNF398,missense_variant,p.Cys485Arg,ENST00000475153,;ZNF398,missense_variant,p.Cys314Arg,ENST00000426851,;ZNF398,missense_variant,p.Cys490Arg,ENST00000540950,;ZNF398,missense_variant,p.Cys314Arg,ENST00000420008,;ZNF398,missense_variant,p.Cys314Arg,ENST00000491174,;	1720	37	35	SUCCESS
AGAP3	116988	.	GRCh37	7	150817090	150817090	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	40	0	ENST00000397238.2:c.986G>T	p.Gly329Val	p.G329V	ENST00000397238	NM_031946.5	329	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43681.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCGGCAGCG	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR23180:SF198,hmmpanther:PTHR23180	.	.	ENSP00000380413	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000397238	Transcript	.	.	ENSG00000133612	16923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.08)	.	AGAP3_HUMAN	AGAP3	HGNC	Q96T14_HUMAN,D3DX07_HUMAN	.	UPI0000DAC777	SNV	AGAP3,missense_variant,p.Gly94Val,ENST00000468796,;AGAP3,missense_variant,p.Gly329Val,ENST00000473312,;AGAP3,missense_variant,p.Gly101Val,ENST00000463381,;AGAP3,missense_variant,p.Gly509Val,ENST00000335367,;AGAP3,missense_variant,p.Gly329Val,ENST00000397238,;AGAP3,intron_variant,,ENST00000479901,;AGAP3,downstream_gene_variant,,ENST00000469901,;AGAP3,non_coding_transcript_exon_variant,,ENST00000480106,;AGAP3,non_coding_transcript_exon_variant,,ENST00000486946,;AGAP3,downstream_gene_variant,,ENST00000490097,;AGAP3,downstream_gene_variant,,ENST00000492234,;AGAP3,upstream_gene_variant,,ENST00000475145,;AGAP3,downstream_gene_variant,,ENST00000476375,;AGAP3,upstream_gene_variant,,ENST00000485904,;AGAP3,missense_variant,p.Gly102Val,ENST00000467724,;AGAP3,non_coding_transcript_exon_variant,,ENST00000498559,;AGAP3,downstream_gene_variant,,ENST00000490839,;AGAP3,downstream_gene_variant,,ENST00000473140,;AGAP3,upstream_gene_variant,,ENST00000463179,;	986	40	31	SUCCESS
AHR	196	.	GRCh37	7	17379497	17379497	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	67	0	ENST00000242057.4:c.2048A>G	p.Gln683Arg	p.Q683R	ENST00000242057	NM_001621.4	683	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS5366.1	2048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCAAGAGT	NONE	.	.	hmmpanther:PTHR10649:SF11,hmmpanther:PTHR10649	.	.	ENSP00000242057	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000242057	Transcript	.	.	ENSG00000106546	348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious_low_confidence(0)	.	AHR_HUMAN	AHR	HGNC	.	.	UPI0000125727	SNV	AHR,missense_variant,p.Gln683Arg,ENST00000242057,;AHR,downstream_gene_variant,,ENST00000492120,;AHR,downstream_gene_variant,,ENST00000481944,;AHR,missense_variant,p.Gln683Arg,ENST00000463496,;	2691	67	49	SUCCESS
STK31	56164	.	GRCh37	7	23825118	23825118	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1274471524	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	19	89	0	ENST00000355870.3:c.2170A>G	p.Met724Val	p.M724V	ENST00000355870	NM_031414.4	724	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS5386.1	2170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAATGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR12302:SF0,hmmpanther:PTHR12302	.	.	ENSP00000348132	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000355870	Transcript	.	.	ENSG00000196335	11407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.53)	.	STK31_HUMAN	STK31	HGNC	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN	.	UPI0000167B73	SNV	STK31,missense_variant,p.Met701Val,ENST00000428484,;STK31,missense_variant,p.Met701Val,ENST00000354639,;STK31,missense_variant,p.Met724Val,ENST00000355870,;STK31,missense_variant,p.Met724Val,ENST00000433467,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,downstream_gene_variant,,ENST00000476399,;	2289	89	84	SUCCESS
DPY19L1	23333	.	GRCh37	7	34981498	34981498	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	79	222	1	ENST00000310974.4:c.1351-2A>G		p.X451_splice	ENST00000310974	NM_015283.1	451		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43567.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTGAAAG	NONE	.	.	.	.	.	ENSP00000308695	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310974	Transcript	.	.	ENSG00000173852	22205	.	.	HIGH	17/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,splice_acceptor_variant,,ENST00000310974,;DPY19L1,upstream_gene_variant,,ENST00000428054,;DPY19L1,downstream_gene_variant,,ENST00000446375,;MIR548N,upstream_gene_variant,,ENST00000408742,;	.	223	240	SUCCESS
AMPH	273	.	GRCh37	7	38457550	38457550	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	77	0	ENST00000356264.2:c.1273G>T	p.Ala425Ser	p.A425S	ENST00000356264	NM_001635.3	425	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5456.1	1273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCCTTGG	NONE	.	.	hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23	.	.	ENSP00000348602	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.17)	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Ala425Ser,ENST00000356264,;AMPH,intron_variant,,ENST00000428293,;AMPH,intron_variant,,ENST00000441628,;AMPH,intron_variant,,ENST00000325590,;AMPH,intron_variant,,ENST00000471913,;AMPH,intron_variant,,ENST00000467580,;AMPH,splice_region_variant,,ENST00000462072,;AMPH,non_coding_transcript_exon_variant,,ENST00000475581,;AMPH,intron_variant,,ENST00000450124,;	1489	77	92	SUCCESS
RADIL	55698	.	GRCh37	7	4854972	4854972	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs1386982780	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	38	0	ENST00000399583.3:c.2076C>G	p.His692Gln	p.H692Q	ENST00000399583	NM_018059.4	692	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS43544.1	2076	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGTGCTC	NONE	.	.	PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3,Pfam_domain:PF01843	.	.	ENSP00000382492	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000399583	Transcript	.	.	ENSG00000157927	22226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	RADIL_HUMAN	RADIL	HGNC	F5H6X3_HUMAN,C9J7G0_HUMAN	.	UPI0000E0A787	SNV	RADIL,missense_variant,p.His692Gln,ENST00000399583,;RADIL,missense_variant,p.His452Gln,ENST00000538469,;RADIL,3_prime_UTR_variant,,ENST00000536091,;Y_RNA,upstream_gene_variant,,ENST00000384168,;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000484211,;RADIL,upstream_gene_variant,,ENST00000469399,;	2264	38	43	SUCCESS
MAGI2	9863	.	GRCh37	7	79082460	79082460	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs373785355	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	67	0	ENST00000354212.4:c.177A>C	p.Lys59Asn	p.K59N	ENST00000354212	NM_012301.3	59	aaA/aaC	0	C:0	.	.	.	.	G	K/N	protein_coding	YES	CCDS5594.1	177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAATTTGCT	NONE	byCluster	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	C:0.0001	ENSP00000346151	.	1/22	.	.	.	.	.	.	.	.	rs373785355	1/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.09)	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,missense_variant,p.Lys59Asn,ENST00000354212,;MAGI2,missense_variant,p.Lys59Asn,ENST00000522391,;MAGI2,missense_variant,p.Lys59Asn,ENST00000419488,;MAGI2-AS3,non_coding_transcript_exon_variant,,ENST00000426835,;MAGI2-AS3,non_coding_transcript_exon_variant,,ENST00000429408,;MAGI2-AS3,upstream_gene_variant,,ENST00000422093,;MAGI2-AS3,upstream_gene_variant,,ENST00000451809,;MAGI2-AS3,upstream_gene_variant,,ENST00000446159,;MAGI2-AS3,upstream_gene_variant,,ENST00000448195,;MAGI2-AS3,upstream_gene_variant,,ENST00000414797,;MAGI2-AS3,upstream_gene_variant,,ENST00000424477,;MAGI2-AS3,upstream_gene_variant,,ENST00000435749,;	431	67	70	SUCCESS
AKAP9	10142	.	GRCh37	7	91669986	91669986	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	50	0	ENST00000356239.3:c.4693-2A>C		p.X1565_splice	ENST00000356239	NM_147185.2	1565		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5622.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAAAGATTC	NONE	.	.	.	.	.	ENSP00000348573	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356239	Transcript	.	.	ENSG00000127914	379	.	.	HIGH	17/49	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,splice_acceptor_variant,,ENST00000356239,;AKAP9,splice_acceptor_variant,,ENST00000359028,;AKAP9,splice_acceptor_variant,,ENST00000358100,;AKAP9,splice_acceptor_variant,,ENST00000493453,;AKAP9,upstream_gene_variant,,ENST00000484815,;	.	50	51	SUCCESS
HEPACAM2	253012	.	GRCh37	7	92848433	92848433	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755650274	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	63	1	ENST00000394468.2:c.411G>T	p.Lys137Asn	p.K137N	ENST00000394468	NM_001039372.1	137	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS43616.1	411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATCTTCTG	NONE	.	.	hmmpanther:PTHR19955:SF125,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000377980	.	2/10	.	.	.	.	.	.	.	.	rs755650274	2/10	PASS	ENST00000394468	Transcript	.	.	ENSG00000188175	27364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	tolerated(0.07)	.	HECA2_HUMAN	HEPACAM2	HGNC	.	.	UPI000013DA71	SNV	HEPACAM2,missense_variant,p.Lys137Asn,ENST00000394468,;HEPACAM2,missense_variant,p.Lys125Asn,ENST00000440868,;HEPACAM2,missense_variant,p.Lys160Asn,ENST00000453812,;HEPACAM2,missense_variant,p.Lys125Asn,ENST00000341723,;	489	64	71	SUCCESS
CSMD3	114788	.	GRCh37	8	113314168	113314168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	38	0	ENST00000297405.5:c.8294C>A	p.Pro2765His	p.P2765H	ENST00000297405	NM_198123.1	2765	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS6315.1	8294	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGGTGTA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	53/71	.	.	.	.	.	.	.	.	.	53/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.828)	.	deleterious(0)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Pro2695His,ENST00000352409,;CSMD3,missense_variant,p.Pro2596His,ENST00000455883,;CSMD3,missense_variant,p.Pro2765His,ENST00000297405,;CSMD3,missense_variant,p.Pro2035His,ENST00000339701,;CSMD3,missense_variant,p.Pro2725His,ENST00000343508,;	8539	38	94	SUCCESS
SLC45A4	57210	.	GRCh37	8	142229096	142229096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	24	87	1	ENST00000024061.3:c.490G>T	p.Gly164Trp	p.G164W	ENST00000024061	NM_001080431.1	164	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS34948.1	490	MUTECT|MUSE|VARSCANS	.	CAGCCCACCCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473	.	.	ENSP00000024061	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,missense_variant,p.Gly22Trp,ENST00000520137,;SLC45A4,missense_variant,p.Gly164Trp,ENST00000024061,;SLC45A4,missense_variant,p.Gly157Trp,ENST00000433583,;SLC45A4,missense_variant,p.Gly215Trp,ENST00000517878,;SLC45A4,missense_variant,p.Gly164Trp,ENST00000519067,;SLC45A4,downstream_gene_variant,,ENST00000519986,;	798	88	146	SUCCESS
MROH5	389690	.	GRCh37	8	142489405	142489405	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	51	0	ENST00000430863.1:c.997C>T	p.Leu333=	p.L333=	ENST00000430863	NM_207414.2	333	Ctg/Ttg	0	.	.	.	.	.	A	.	nonsense_mediated_decay	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCAGCCCCA	NONE	.	.	.	.	.	ENSP00000427945	.	9/27	.	.	.	.	.	.	.	.	COSM3834154,COSM3834153	9/27	PASS	ENST00000523857	Transcript	.	.	ENSG00000226807	42976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	.	MROH5	HGNC	E5RFU7_HUMAN	.	UPI0001E8F5FA	SNV	MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,synonymous_variant,p.%3D,ENST00000430863,;	1037	51	90	SUCCESS
ARC	23237	.	GRCh37	8	143695326	143695326	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs771620864	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	19	0	ENST00000356613.2:c.307G>C	p.Ala103Pro	p.A103P	ENST00000356613	NM_015193.4	103	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS34950.1	307	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGCGATGG	NONE	byFrequency	.	hmmpanther:PTHR15962,Prints_domain:PR02027	.	.	ENSP00000349022	.	1/3	.	.	.	.	.	.	.	.	rs771620864	1/3	PASS	ENST00000356613	Transcript	.	.	ENSG00000198576	648	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	ARC_HUMAN	ARC	HGNC	.	.	UPI0000163B0F	SNV	ARC,missense_variant,p.Ala103Pro,ENST00000356613,;ARC,upstream_gene_variant,,ENST00000581404,;	1508	19	36	SUCCESS
PRKDC	5591	.	GRCh37	8	48715984	48715984	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	54	0	ENST00000314191.2:c.9802A>C	p.Arg3268=	p.R3268=	ENST00000314191	NM_006904.6	3268	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	.	9802	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTGGTTT	NONE	.	.	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF02259	.	.	ENSP00000313420	.	71/87	.	.	.	.	.	.	.	.	.	71/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,synonymous_variant,p.%3D,ENST00000338368,;PRKDC,synonymous_variant,p.%3D,ENST00000314191,;Y_RNA,downstream_gene_variant,,ENST00000384719,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	9859	54	86	SUCCESS
RP1	6101	.	GRCh37	8	55534100	55534100	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751318405	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	55	0	ENST00000220676.1:c.574C>A	p.Gln192Lys	p.Q192K	ENST00000220676	NM_006269.1	192	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS6160.1	574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGCAGCGC	NONE	.	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Pfam_domain:PF03607,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	rs751318405	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.07)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Gln192Lys,ENST00000220676,;	722	55	84	SUCCESS
CSPP1	79848	.	GRCh37	8	68062027	68062027	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1167342858	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	278	14	169	1	ENST00000262210.5:c.1970A>G	p.Asn657Ser	p.N657S	ENST00000262210	NM_024790.6	657	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43744.1	1970	MUTECT|MUSE	.	TTTGAATAGGA	NONE	.	.	hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616	.	.	ENSP00000262210	.	16/29	.	.	.	.	.	.	.	.	.	16/29	PASS	ENST00000262210	Transcript	1	.	ENSG00000104218	26193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.343)	.	tolerated(0.09)	.	CSPP1_HUMAN	CSPP1	HGNC	.	.	UPI00005A95D7	SNV	CSPP1,missense_variant,p.Asn657Ser,ENST00000262210,;CSPP1,intron_variant,,ENST00000519668,;CSPP1,intron_variant,,ENST00000412460,;CSPP1,3_prime_UTR_variant,,ENST00000519163,;	2001	170	293	SUCCESS
LRRCC1	85444	.	GRCh37	8	86048194	86048194	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	37	126	0	ENST00000360375.3:c.2325A>G	p.Gln775=	p.Q775=	ENST00000360375	NM_033402.4	775	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS43750.1	2325	RADIA|MUTECT|MUSE|VARSCANS	.	GCACAACAAGG	NONE	.	.	hmmpanther:PTHR10588:SF31,hmmpanther:PTHR10588	.	.	ENSP00000353538	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000360375	Transcript	.	.	ENSG00000133739	29373	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRCC1_HUMAN	LRRCC1	HGNC	.	.	UPI000021002F	SNV	LRRCC1,synonymous_variant,p.%3D,ENST00000360375,;LRRCC1,synonymous_variant,p.%3D,ENST00000414626,;LRRCC1,3_prime_UTR_variant,,ENST00000522770,;LRRCC1,3_prime_UTR_variant,,ENST00000517875,;LRRCC1,3_prime_UTR_variant,,ENST00000522567,;LRRCC1,downstream_gene_variant,,ENST00000523669,;	2474	126	219	SUCCESS
MMP16	4325	.	GRCh37	8	89053953	89053953	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	60	98	0	ENST00000286614.6:c.1560A>T	p.Gly520=	p.G520=	ENST00000286614	NM_005941.4	520	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6246.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATCCAGG	NONE	.	.	PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	.	.	ENSP00000286614	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,synonymous_variant,p.%3D,ENST00000286614,;	1842	98	140	SUCCESS
ZNF189	7743	.	GRCh37	9	104171388	104171388	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	44	0	ENST00000339664.2:c.1338G>C	p.Gln446His	p.Q446H	ENST00000339664	NM_001278240.1	446	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS6754.1	1338	RADIA|MUTECT|MUSE|VARSCANS	.	ATACAGCAGGA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF123	.	.	ENSP00000342019	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000339664	Transcript	.	.	ENSG00000136870	12980	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.948)	.	tolerated(1)	.	ZN189_HUMAN	ZNF189	HGNC	.	.	UPI000013FAD5	SNV	ZNF189,missense_variant,p.Gln446His,ENST00000339664,;ZNF189,missense_variant,p.Gln404His,ENST00000259395,;ZNF189,missense_variant,p.Gln432His,ENST00000374861,;	1467	44	32	SUCCESS
PNPLA7	375775	.	GRCh37	9	140391674	140391674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	29	1	ENST00000277531.4:c.1903G>T	p.Ala635Ser	p.A635S	ENST00000277531	NM_152286.3	635	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS48070.1	1978	SOMATICSNIPER|VARSCANS	.	CCCGGCCAGGC	NONE	.	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,Pfam_domain:PF00027,hmmpanther:PTHR14226:SF23,hmmpanther:PTHR14226,PROSITE_profiles:PS50042	.	.	ENSP00000384610	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000406427	Transcript	.	.	ENSG00000130653	24768	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.46)	.	deleterious(0)	.	PLPL7_HUMAN	PNPLA7	HGNC	Q5T362_HUMAN	.	UPI0000E0C27D	SNV	PNPLA7,missense_variant,p.Ala635Ser,ENST00000277531,;PNPLA7,missense_variant,p.Ala626Ser,ENST00000434090,;PNPLA7,missense_variant,p.Ala660Ser,ENST00000406427,;PNPLA7,missense_variant,p.Ala241Ser,ENST00000371457,;	2315	30	31	SUCCESS
OR2S2	56656	.	GRCh37	9	35957695	35957695	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	53	0	ENST00000341959.2:c.401C>T	p.Ser134Phe	p.S134F	ENST00000341959	NM_019897.2	134	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS6596.2	401	RADIA|MUTECT|MUSE|VARSCANS	.	TCACGGAGTAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000344040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341959	Transcript	.	.	ENSG00000122718	8276	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.258)	.	deleterious(0)	.	OR2S1_HUMAN	OR2S2	HGNC	.	.	UPI000003FF74	SNV	OR2S2,missense_variant,p.Ser134Phe,ENST00000341959,;	457	53	28	SUCCESS
RECK	8434	.	GRCh37	9	36122844	36122844	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	61	0	ENST00000377966.3:c.2718A>G	p.Ala906=	p.A906=	ENST00000377966	NM_021111.2	906	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6597.1	2718	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAGAGAA	NONE	.	.	hmmpanther:PTHR13487	.	.	ENSP00000367202	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000377966	Transcript	.	.	ENSG00000122707	11345	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RECK_HUMAN	RECK	HGNC	.	.	UPI0000133587	SNV	RECK,synonymous_variant,p.%3D,ENST00000377966,;	3284	61	43	SUCCESS
TRPM6	140803	.	GRCh37	9	77397736	77397736	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749305046	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	35	95	0	ENST00000360774.1:c.2953G>C	p.Ala985Pro	p.A985P	ENST00000360774	NM_017662.4	985	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS6647.1	2953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGCCATGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	22/39	.	.	.	.	.	.	.	.	rs749305046	22/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Ala985Pro,ENST00000451710,;TRPM6,missense_variant,p.Ala980Pro,ENST00000449912,;TRPM6,missense_variant,p.Ala980Pro,ENST00000361255,;TRPM6,missense_variant,p.Ala985Pro,ENST00000376864,;TRPM6,missense_variant,p.Ala985Pro,ENST00000360774,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;	3191	95	55	SUCCESS
RGAG1	0	.	GRCh37	X	109695556	109695556	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769334584	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	63	0	ENST00000465301.2:c.1711A>G	p.Thr571Ala	p.T571A	ENST00000465301	NM_020769.2	571	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14552.1	1711	MUTECT|MUSE	.	CCATGACTTCT	NONE	byFrequency	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	rs769334584	3/4	PASS	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,missense_variant,p.Thr571Ala,ENST00000540313,;RGAG1,missense_variant,p.Thr571Ala,ENST00000465301,;RGAG1,downstream_gene_variant,,ENST00000520821,;	1957	63	58	SUCCESS
SLC6A14	11254	.	GRCh37	X	115567878	115567878	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	19	0	ENST00000371900.4:c.1A>G	p.Met1?	p.M1?	ENST00000371900	NM_007231.3	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS14570.1	1	RADIA|MUTECT|MUSE	.	GAACCATGGAC	NONE	.	.	hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF120	.	.	ENSP00000360967	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000371900	Transcript	.	.	ENSG00000087916	11047	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.06)	.	S6A14_HUMAN	SLC6A14	HGNC	.	.	UPI0000072E3C	SNV	SLC6A14,start_lost,p.Met1?,ENST00000371900,;	89	20	21	SUCCESS
GRIA3	2892	.	GRCh37	X	122561855	122561855	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	43	0	ENST00000264357.5:c.1941C>T	p.Ser647=	p.S647=	ENST00000264357	NM_000828.4	647	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14604.1	1941	MUTECT|MUSE	.	TCTTCCTATAC	BUFFER|p.S646Y|c.1937C>A|3,BUFFER|p.S646Y|c.1937C>A|3,BUFFER|p.S646Y|c.1937C>A|3	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00177,Superfamily_domains:SSF81324,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,synonymous_variant,p.%3D,ENST00000371256,;GRIA3,synonymous_variant,p.%3D,ENST00000542149,;GRIA3,synonymous_variant,p.%3D,ENST00000264357,;GRIA3,synonymous_variant,p.%3D,ENST00000371251,;	2233	43	41	SUCCESS
CT45A5	441521	.	GRCh37	X	134948145	134948145	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	32	0	ENST00000463085.2:c.180A>T	p.Thr60=	p.T60=	ENST00000463085		60	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS35406.1	180	MUTECT|MUSE	.	TGTCCTGTCAT	NONE	.	.	hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF8	.	.	ENSP00000424778	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000463085	Transcript	.	.	ENSG00000242284	33270	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CT455_HUMAN	CT45A5	HGNC	.	.	UPI00002125B4	SNV	CT45A5,synonymous_variant,p.%3D,ENST00000491480,;CT45A5,synonymous_variant,p.%3D,ENST00000463085,;CT45A5,synonymous_variant,p.%3D,ENST00000370724,;CT45A4,intron_variant,,ENST00000420087,;	270	32	26	SUCCESS
AFF2	2334	.	GRCh37	X	148072845	148072845	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs149966195	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	26	0	ENST00000370460.2:c.3919G>C	p.Asp1307His	p.D1307H	ENST00000370460	NM_002025.3	1307	Gat/Cat	0	A:0	A:0	.	A:0	.	C	D/H	protein_coding	YES	CCDS14684.1	3919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCGATGCC	BUFFER|p.R1305H|c.3914G>A|3,BUFFER|p.R1305H|c.3914G>A|3,BUFFER|p.R946H|c.2837G>A|3	byCluster|by1000G	.	hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	A:0	A:0.0001	ENSP00000359489	A:0.001	21/21	.	.	.	.	.	.	.	.	rs149966195,COSM1116642,COSM1116641,COSM1116639	21/21	PASS	ENST00000370460	Transcript	.	A:0.0003	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.995)	A:0	deleterious(0.01)	0,1,1,1	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Asp1307His,ENST00000370460,;AFF2,missense_variant,p.Asp1274His,ENST00000342251,;AFF2,missense_variant,p.Asp948His,ENST00000286437,;AFF2,missense_variant,p.Asp1272His,ENST00000370457,;	4398	26	34	SUCCESS
PLXNA3	55558	.	GRCh37	X	153698841	153698841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	61	88	0	ENST00000369682.3:c.5043C>A	p.His1681Gln	p.H1681Q	ENST00000369682	NM_017514.3	1681	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS14752.1	5043	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACCGGGG	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Pfam_domain:PF08337,Gene3D:1.10.506.10,Superfamily_domains:SSF48350	.	.	ENSP00000358696	.	30/33	.	.	.	.	.	.	.	.	.	30/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,missense_variant,p.His1681Gln,ENST00000369682,;PLXNA3,non_coding_transcript_exon_variant,,ENST00000493546,;PLXNA3,downstream_gene_variant,,ENST00000480645,;PLXNA3,downstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000497802,;PLXNA3,downstream_gene_variant,,ENST00000491066,;PLXNA3,downstream_gene_variant,,ENST00000478236,;	5218	88	83	SUCCESS
MAGEB4	4115	.	GRCh37	X	30260451	30260451	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	44	53	0	ENST00000378982.2:c.199C>A	p.Pro67Thr	p.P67T	ENST00000378982	NM_002367.3	67	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS14221.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCACCCACC	NONE	.	.	Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75	.	.	ENSP00000368266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378982	Transcript	.	.	ENSG00000120289	6811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated(0.17)	.	MAGB4_HUMAN	MAGEB4	HGNC	.	.	UPI000012F055	SNV	MAGEB4,missense_variant,p.Pro67Thr,ENST00000378982,;MAGEB3,downstream_gene_variant,,ENST00000361644,;MAGEB1,upstream_gene_variant,,ENST00000397548,;MAGEB1,upstream_gene_variant,,ENST00000397550,;MAGEB1,upstream_gene_variant,,ENST00000378981,;	395	53	60	SUCCESS
KDM6A	7403	.	GRCh37	X	44870266	44870266	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	25	45	0	ENST00000377967.4:c.443+2T>G		p.X148_splice	ENST00000377967	NM_021140.2	148		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14265.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTAAGTT	BUFFER|p.0?|c.1_4206del4206|5,BUFFER|p.0|c.226_654del429|3	.	.	.	.	.	ENSP00000367203	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377967	Transcript	.	.	ENSG00000147050	12637	.	.	HIGH	5/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM6A_HUMAN	KDM6A	HGNC	Q68D33_HUMAN,Q59HG3_HUMAN,Q590H7_HUMAN	.	UPI000013DA92	SNV	KDM6A,splice_donor_variant,,ENST00000543216,;KDM6A,splice_donor_variant,,ENST00000382899,;KDM6A,splice_donor_variant,,ENST00000377967,;KDM6A,splice_donor_variant,,ENST00000536777,;KDM6A,splice_donor_variant,,ENST00000475233,;	.	45	39	SUCCESS
KIF4A	24137	.	GRCh37	X	69595074	69595074	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	55	0	ENST00000374403.3:c.1799A>G	p.Lys600Arg	p.K600R	ENST00000374403	NM_012310.4	600	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14401.1	1799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAAACGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF393	.	.	ENSP00000363524	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000374403	Transcript	.	.	ENSG00000090889	13339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.1)	.	KIF4A_HUMAN	KIF4A	HGNC	.	.	UPI000013D32A	SNV	KIF4A,missense_variant,p.Lys600Arg,ENST00000374403,;KIF4A,missense_variant,p.Lys600Arg,ENST00000374388,;	1881	55	64	SUCCESS
CXCR3	2833	.	GRCh37	X	70836903	70836903	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	23	0	ENST00000373693.3:c.419T>A	p.Leu140His	p.L140H	ENST00000373693	NM_001504.1	140	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS48135.1	560	RADIA|MUTECT|MUSE	.	GCAGGAGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF27,hmmpanther:PTHR24227,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00657	.	.	ENSP00000362795	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373691	Transcript	.	.	ENSG00000186810	4540	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.557)	.	deleterious(0)	.	CXCR3_HUMAN	CXCR3	HGNC	.	.	UPI00001A92CE	SNV	CXCR3,missense_variant,p.Leu140His,ENST00000373693,;CXCR3,missense_variant,p.Leu187His,ENST00000373691,;ACRC,downstream_gene_variant,,ENST00000373695,;ACRC,downstream_gene_variant,,ENST00000373696,;ACRC,downstream_gene_variant,,ENST00000471950,;	724	23	12	SUCCESS
TBX22	50945	.	GRCh37	X	79283541	79283541	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	56	0	ENST00000373294.5:c.915T>G	p.Thr305=	p.T305=	ENST00000373294	NM_016954.2	305	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS14445.1	915	RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTCTCGA	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97	.	.	ENSP00000362390	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000373294	Transcript	.	.	ENSG00000122145	11600	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBX22_HUMAN	TBX22	HGNC	C3TX51_HUMAN	.	UPI00001377ED	SNV	TBX22,synonymous_variant,p.%3D,ENST00000373291,;TBX22,synonymous_variant,p.%3D,ENST00000373294,;TBX22,synonymous_variant,p.%3D,ENST00000442340,;TBX22,synonymous_variant,p.%3D,ENST00000373296,;	943	56	48	SUCCESS
DDX3Y	8653	.	GRCh37	Y	15024659	15024659	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	78	90	0	ENST00000336079.3:c.302G>T	p.Ser101Ile	p.S101I	ENST00000336079	NM_001122665.1	101	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS14782.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGAGTGACT	NONE	.	.	hmmpanther:PTHR24031:SF195,hmmpanther:PTHR24031,Low_complexity_(Seg):seg	.	.	ENSP00000336725	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000336079	Transcript	1	.	ENSG00000067048	2699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.19)	.	DDX3Y_HUMAN	DDX3Y	HGNC	C9J8G5_HUMAN	.	UPI00000741D9	SNV	DDX3Y,missense_variant,p.Ser98Ile,ENST00000440554,;DDX3Y,missense_variant,p.Ser101Ile,ENST00000360160,;DDX3Y,missense_variant,p.Ser101Ile,ENST00000336079,;DDX3Y,missense_variant,p.Ser101Ile,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000469101,;DDX3Y,upstream_gene_variant,,ENST00000463199,;DDX3Y,upstream_gene_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000472510,;	408	90	102	SUCCESS
NLGN4Y	22829	.	GRCh37	Y	16941900	16941900	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	80	121	1	ENST00000339174.5:c.1102A>G	p.Met368Val	p.M368V	ENST00000339174		368	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS14788.1	1102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCATGCTG	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF195,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000348169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000355905	Transcript	.	.	ENSG00000165246	15529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.624)	.	deleterious(0)	.	NLGNY_HUMAN	NLGN4Y	HGNC	.	.	UPI000004770C	SNV	NLGN4Y,missense_variant,p.Met368Val,ENST00000339174,;NLGN4Y,missense_variant,p.Met368Val,ENST00000355905,;NLGN4Y,missense_variant,p.Met425Val,ENST00000382868,;NLGN4Y,missense_variant,p.Met200Val,ENST00000382872,;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	1354	122	121	SUCCESS
KIAA1279	0	.	GRCh37	10	70775430	70775430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	86	0	ENST00000361983.4:c.1124C>T	p.Ser375Phe	p.S375F	ENST00000361983	NM_015634.3	375	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS7284.1	1124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTCTGCAG	NONE	.	.	hmmpanther:PTHR20956,hmmpanther:PTHR20956:SF0,Pfam_domain:PF12309	.	.	ENSP00000354848	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361983	Transcript	1	.	ENSG00000198954	23419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	deleterious(0.04)	.	KBP_HUMAN	KIAA1279	HGNC	.	.	UPI000006FCAF	SNV	KIAA1279,missense_variant,p.Ser375Phe,ENST00000361983,;KIAA1279,downstream_gene_variant,,ENST00000481912,;	1226	86	85	SUCCESS
HTR7	3363	.	GRCh37	10	92616999	92616999	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777903055	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	66	208	0	ENST00000336152.3:c.430A>G	p.Ile144Val	p.I144V	ENST00000336152	NM_019859.3	144	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7408.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGATGAGGT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247,PROSITE_profiles:PS50262	.	.	ENSP00000337949	.	1/4	.	.	.	.	.	.	.	.	rs777903055	1/4	PASS	ENST00000336152	Transcript	.	.	ENSG00000148680	5302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.4)	.	5HT7R_HUMAN	HTR7	HGNC	.	.	UPI0000049B68	SNV	HTR7,missense_variant,p.Ile144Val,ENST00000371719,;HTR7,missense_variant,p.Ile144Val,ENST00000371721,;HTR7,missense_variant,p.Ile144Val,ENST00000277874,;HTR7,missense_variant,p.Ile144Val,ENST00000336152,;	457	208	265	SUCCESS
MYOF	26509	.	GRCh37	10	95109596	95109596	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	51	165	0	ENST00000359263.4:c.4052A>G	p.Asn1351Ser	p.N1351S	ENST00000359263	NM_013451.3	1351	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS41551.1	4052	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTTGGGT	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000352208	.	36/54	.	.	.	.	.	.	.	.	.	36/54	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,missense_variant,p.Asn1351Ser,ENST00000371502,;MYOF,missense_variant,p.Asn1338Ser,ENST00000358334,;MYOF,missense_variant,p.Asn1351Ser,ENST00000371501,;MYOF,missense_variant,p.Asn1351Ser,ENST00000359263,;MYOF,missense_variant,p.Asn726Ser,ENST00000463743,;	4052	165	184	SUCCESS
OR5J2	282775	.	GRCh37	11	55944717	55944717	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs763684226	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	203	90	285	0	ENST00000312298.1:c.624G>C	p.Met208Ile	p.M208I	ENST00000312298	NM_001005492.1	208	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS31522.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATGGCCAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF102,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000310788	.	1/1	.	.	.	.	.	.	.	.	rs763684226,COSM688641	1/1	PASS	ENST00000312298	Transcript	.	.	ENSG00000174957	19612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(1)	0,1	OR5J2_HUMAN	OR5J2	HGNC	.	.	UPI000004B232	SNV	OR5J2,missense_variant,p.Met208Ile,ENST00000312298,;	624	285	293	SUCCESS
FAT3	120114	.	GRCh37	11	92533065	92533065	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	10	147	0	ENST00000298047.6:c.6886C>G	p.Leu2296Val	p.L2296V	ENST00000298047		2296	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	.	6886	MUTECT|MUSE	.	CAACACTATCA	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	9/27	.	.	.	.	.	.	.	.	.	9/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.859)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Leu2296Val,ENST00000298047,;FAT3,missense_variant,p.Leu2296Val,ENST00000409404,;FAT3,missense_variant,p.Leu2146Val,ENST00000525166,;	6903	147	129	SUCCESS
SLC17A8	246213	.	GRCh37	12	100774721	100774721	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747565276	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	70	205	1	ENST00000323346.5:c.344C>G	p.Pro115Arg	p.P115R	ENST00000323346	NM_001145288.1	115	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS9077.1	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCGGAAA	NONE	byFrequency	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF207,hmmpanther:PTHR11662,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	.	.	ENSP00000316909	.	2/12	.	.	.	.	.	.	.	.	rs747565276	2/12	PASS	ENST00000323346	Transcript	.	.	ENSG00000179520	20151	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	tolerated(0.53)	.	VGLU3_HUMAN	SLC17A8	HGNC	.	.	UPI0000073B9B	SNV	SLC17A8,missense_variant,p.Pro115Arg,ENST00000392989,;SLC17A8,missense_variant,p.Pro115Arg,ENST00000323346,;	657	206	248	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72054564	72054564	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	51	0	ENST00000555818.1:c.-26G>C		p.*9*	ENST00000555818	NM_015556.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9807.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGATTTA	NONE	.	.	.	.	.	ENSP00000450832	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,5_prime_UTR_variant,,ENST00000358550,;SIPA1L1,5_prime_UTR_variant,,ENST00000381232,;SIPA1L1,5_prime_UTR_variant,,ENST00000555818,;SIPA1L1,5_prime_UTR_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;	323	51	71	SUCCESS
SERPINA11	256394	.	GRCh37	14	94912673	94912673	+	synonymous_variant	Silent	SNP	C	C	A	rs745366755	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	170	11	141	1	ENST00000334708.3:c.912G>T	p.Leu304=	p.L304=	ENST00000334708	NM_001080451.1	304	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS32149.1	912	MUTECT|MUSE	.	CTGGGCAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000335024	.	3/5	.	.	.	.	.	.	.	.	rs745366755	3/5	PASS	ENST00000334708	Transcript	.	.	ENSG00000186910	19193	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPA11_HUMAN	SERPINA11	HGNC	.	.	UPI000015DA3A	SNV	SERPINA11,synonymous_variant,p.%3D,ENST00000334708,;RP11-349I1.2,intron_variant,,ENST00000536735,;	977	142	182	SUCCESS
ZNF423	23090	.	GRCh37	16	49671020	49671020	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	70	172	0	ENST00000262383.2:c.2043G>A	p.Leu681=	p.L681=	ENST00000262383		681	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32445.1	2043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTCAGGTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385,PROSITE_patterns:PS00028,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000455426	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,synonymous_variant,p.%3D,ENST00000262383,;ZNF423,synonymous_variant,p.%3D,ENST00000563137,;ZNF423,synonymous_variant,p.%3D,ENST00000562520,;ZNF423,synonymous_variant,p.%3D,ENST00000561648,;ZNF423,synonymous_variant,p.%3D,ENST00000567169,;ZNF423,synonymous_variant,p.%3D,ENST00000535559,;ZNF423,synonymous_variant,p.%3D,ENST00000562871,;	2097	172	226	SUCCESS
SLC46A1	113235	.	GRCh37	17	26726805	26726805	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	59	0	ENST00000440501.1:c.1323-76A>C		p.*441*	ENST00000440501	NM_080669.4			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CAGGATTTACT	NONE	.	.	.	.	.	ENSP00000406738	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000457710	Transcript	.	.	ENSG00000004139	17074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SARM1	HGNC	.	.	UPI0000042801	SNV	SARM1,3_prime_UTR_variant,,ENST00000457710,;SLC46A1,intron_variant,,ENST00000440501,;SLC46A1,intron_variant,,ENST00000321666,;SLC46A1,intron_variant,,ENST00000582735,;SARM1,downstream_gene_variant,,ENST00000579593,;SLC46A1,downstream_gene_variant,,ENST00000584995,;SARM1,downstream_gene_variant,,ENST00000578128,;CTD-2350C19.1,upstream_gene_variant,,ENST00000583956,;SLC46A1,intron_variant,,ENST00000584729,;SLC46A1,intron_variant,,ENST00000583295,;SLC46A1,downstream_gene_variant,,ENST00000578217,;SARM1,downstream_gene_variant,,ENST00000379061,;SARM1,downstream_gene_variant,,ENST00000580711,;SLC46A1,downstream_gene_variant,,ENST00000582590,;SARM1,downstream_gene_variant,,ENST00000003834,;SLC46A1,downstream_gene_variant,,ENST00000582345,;SARM1,downstream_gene_variant,,ENST00000577870,;	6044	59	60	SUCCESS
LRFN1	57622	.	GRCh37	19	39804840	39804840	+	synonymous_variant	Silent	SNP	C	C	T	rs954869382	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	24	0	ENST00000248668.4:c.1137G>A	p.Ala379=	p.A379=	ENST00000248668	NM_020862.1	379	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46071.1	1137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTCGCTTC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373,PROSITE_profiles:PS50835	.	.	ENSP00000248668	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000248668	Transcript	.	.	ENSG00000128011	29290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN1_HUMAN	LRFN1	HGNC	.	.	UPI00001A5C55	SNV	LRFN1,synonymous_variant,p.%3D,ENST00000248668,;CTC-246B18.8,downstream_gene_variant,,ENST00000601911,;	1137	24	42	SUCCESS
GJA8	2703	.	GRCh37	1	147380477	147380477	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782766869	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	50	0	ENST00000369235.1:c.395G>A	p.Ser132Asn	p.S132N	ENST00000369235		132	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS30834.1	395	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGCAGCG	NONE	.	.	Gene3D:2zw3A00,hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984,Low_complexity_(Seg):seg	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	rs782766869	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.4)	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	SNV	GJA8,missense_variant,p.Ser132Asn,ENST00000240986,;GJA8,missense_variant,p.Ser132Asn,ENST00000369235,;	448	50	51	SUCCESS
RSC1A1	6248	.	GRCh37	1	15988085	15988085	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	75	228	0	ENST00000345034.1:c.1722C>G	p.Ala574=	p.A574=	ENST00000345034	NM_006511.1	574	gcC/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS161.1	1722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCACAGA	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00165,hmmpanther:PTHR15397:SF2,hmmpanther:PTHR15397,PROSITE_profiles:PS50030	.	.	ENSP00000341963	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000345034	Transcript	.	.	ENSG00000215695	10458	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSCA1_HUMAN	RSC1A1	HGNC	.	.	UPI00000715AC	SNV	RSC1A1,synonymous_variant,p.%3D,ENST00000345034,;DDI2,3_prime_UTR_variant,,ENST00000480945,;DDI2,downstream_gene_variant,,ENST00000548451,;DDI2,downstream_gene_variant,,ENST00000320153,;	1722	228	238	SUCCESS
DDOST	1650	.	GRCh37	1	20980769	20980769	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	45	115	0	ENST00000375048.3:c.792C>T	p.Phe264=	p.F264=	ENST00000375048	NM_005216.4	264	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS212.1	792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCTGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10830,hmmpanther:PTHR10830:SF0,Pfam_domain:PF03345	.	.	ENSP00000364188	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000375048	Transcript	.	.	ENSG00000244038	2728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OST48_HUMAN	DDOST	HGNC	.	.	UPI000013C9E0	SNV	DDOST,synonymous_variant,p.%3D,ENST00000375048,;DDOST,synonymous_variant,p.%3D,ENST00000415136,;DDOST,synonymous_variant,p.%3D,ENST00000602624,;PINK1,downstream_gene_variant,,ENST00000321556,;DDOST,downstream_gene_variant,,ENST00000464364,;DDOST,upstream_gene_variant,,ENST00000475210,;PINK1,downstream_gene_variant,,ENST00000492302,;PINK1,downstream_gene_variant,,ENST00000400490,;PINK1-AS,upstream_gene_variant,,ENST00000451424,;AL391357.1,upstream_gene_variant,,ENST00000535128,;	898	115	140	SUCCESS
AHDC1	27245	.	GRCh37	1	27875598	27875598	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1437054566	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	25	0	ENST00000247087.5:c.3029C>A	p.Ala1010Asp	p.A1010D	ENST00000247087		1010	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS30652.1	3029	RADIA|MUSE	.	GTGAGGCAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1	.	.	ENSP00000363123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000374011	Transcript	.	.	ENSG00000126705	25230	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.82)	.	deleterious(0)	.	AHDC1_HUMAN	AHDC1	HGNC	.	.	UPI0000418EA1	SNV	AHDC1,missense_variant,p.Ala1010Asp,ENST00000247087,;AHDC1,missense_variant,p.Ala1010Asp,ENST00000374011,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;	3998	25	37	SUCCESS
NT5C1A	84618	.	GRCh37	1	40129095	40129095	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771982050	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	8	235	0	ENST00000235628.1:c.445G>A	p.Glu149Lys	p.E149K	ENST00000235628	NM_032526.1	149	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS440.1	445	MUTECT|MUSE	.	CCTCTCGATGA	NONE	byFrequency	.	Pfam_domain:PF06189,hmmpanther:PTHR31367:SF2,hmmpanther:PTHR31367	.	.	ENSP00000235628	.	4/6	.	.	.	.	.	.	.	.	rs771982050,COSM1687504	4/6	PASS	ENST00000235628	Transcript	.	.	ENSG00000116981	17819	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.982)	.	deleterious(0.03)	0,1	5NT1A_HUMAN	NT5C1A	HGNC	.	.	UPI000004978A	SNV	NT5C1A,missense_variant,p.Glu149Lys,ENST00000235628,;	445	235	202	SUCCESS
TMEM61	199964	.	GRCh37	1	55452005	55452005	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	66	0	ENST00000371268.3:c.251G>A	p.Gly84Asp	p.G84D	ENST00000371268	NM_182532.1	84	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS601.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF15105	.	.	ENSP00000360315	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000371268	Transcript	.	.	ENSG00000143001	27296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	TMM61_HUMAN	TMEM61	HGNC	.	.	UPI00000361F8	SNV	TMEM61,missense_variant,p.Gly84Asp,ENST00000371268,;RP11-12C17.2,intron_variant,,ENST00000436960,;	525	66	110	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94654393	94654393	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	7	204	0	ENST00000260526.6:c.1681G>A	p.Gly561Arg	p.G561R	ENST00000260526	NM_004815.3	561	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS748.1	1681	MUTECT|MUSE	.	TGTACCTGGAC	NONE	.	.	hmmpanther:PTHR15228:SF7,hmmpanther:PTHR15228	.	.	ENSP00000260526	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,missense_variant,p.Gly561Arg,ENST00000260526,;ARHGAP29,splice_region_variant,,ENST00000482481,;ARHGAP29,missense_variant,p.Gly561Arg,ENST00000552844,;	1864	204	187	SUCCESS
LZIC	84328	.	GRCh37	1	9995639	9995639	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs772109130	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	73	0	ENST00000377213.1:c.148C>G	p.Leu50Val	p.L50V	ENST00000377213		50	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS107.1	148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGAGTTT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16505:SF7,hmmpanther:PTHR16505	.	.	ENSP00000366430	.	4/8	.	.	.	.	.	.	.	.	rs772109130	4/8	PASS	ENST00000377223	Transcript	.	.	ENSG00000162441	17497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.21)	.	LZIC_HUMAN	LZIC	HGNC	.	.	UPI000006E3EF	SNV	LZIC,missense_variant,p.Leu50Val,ENST00000400903,;LZIC,missense_variant,p.Leu50Val,ENST00000377223,;LZIC,missense_variant,p.Leu50Val,ENST00000377213,;LZIC,missense_variant,p.Leu71Val,ENST00000541052,;LZIC,missense_variant,p.Leu14Val,ENST00000488540,;LZIC,upstream_gene_variant,,ENST00000471853,;	396	73	71	SUCCESS
MYO18B	84700	.	GRCh37	22	26423563	26423563	+	synonymous_variant	Silent	SNP	G	G	A	rs202185507	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	86	0	ENST00000536101.1:c.7623G>A	p.Thr2541=	p.T2541=	ENST00000536101		2541	acG/acA	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS54507.1	7623	MUTECT|MUSE	.	CGAACGTCCCC	NONE	byCluster	.	.	.	A:0.0005	ENSP00000334563	.	43/44	.	.	.	.	.	.	.	.	rs202185507	43/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000543971,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,synonymous_variant,p.%3D,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	7873	86	82	SUCCESS
SHANK3	85358	.	GRCh37	22	51160334	51160334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	42	0	ENST00000262795.3:c.4121A>T	p.Glu1374Val	p.E1374V	ENST00000262795	NM_033517.1	1374	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	.	4121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGAGGAGG	NONE	.	.	hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135	.	.	ENSP00000442518	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000262795	Transcript	.	.	ENSG00000251322	14294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	.	SHANK3	HGNC	F8TCV3_HUMAN,F2Z3L0_HUMAN	.	UPI0000DD85FB	SNV	SHANK3,missense_variant,p.Glu1374Val,ENST00000262795,;SHANK3,missense_variant,p.Glu1360Val,ENST00000445220,;SHANK3,missense_variant,p.Glu1344Val,ENST00000414786,;	4121	42	61	SUCCESS
FIGN	55137	.	GRCh37	2	164467790	164467790	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	14	137	1	ENST00000333129.3:c.552A>G	p.Glu184=	p.E184=	ENST00000333129	NM_018086.2	184	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS2221.2	552	RADIA|MUTECT|VARSCANS	.	GCATATTCCTG	NONE	.	.	hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	.	.	ENSP00000333836	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333129	Transcript	.	.	ENSG00000182263	13285	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FIGN_HUMAN	FIGN	HGNC	.	.	UPI000022BD13	SNV	FIGN,synonymous_variant,p.%3D,ENST00000333129,;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	867	138	137	SUCCESS
IGSF11	152404	.	GRCh37	3	118649028	118649028	+	synonymous_variant	Silent	SNP	G	G	A	rs746094445	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	268	9	264	1	ENST00000393775.2:c.147C>T	p.Ser49=	p.S49=	ENST00000393775	NM_001015887.1	49	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS46891.1	147	MUTECT|MUSE	.	GCAGCGCTGGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF74,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000377370	.	2/7	.	.	.	.	.	.	.	.	rs746094445,COSM4112491,COSM4112490	2/7	PASS	ENST00000393775	Transcript	.	.	ENSG00000144847	16669	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	IGS11_HUMAN	IGSF11	HGNC	C9JAD3_HUMAN,C9IZX3_HUMAN	.	UPI000013D9B3	SNV	IGSF11,synonymous_variant,p.%3D,ENST00000425327,;IGSF11,synonymous_variant,p.%3D,ENST00000354673,;IGSF11,synonymous_variant,p.%3D,ENST00000489689,;IGSF11,synonymous_variant,p.%3D,ENST00000441144,;IGSF11,synonymous_variant,p.%3D,ENST00000393775,;IGSF11,synonymous_variant,p.%3D,ENST00000491903,;IGSF11,5_prime_UTR_variant,,ENST00000483401,;IGSF11,5_prime_UTR_variant,,ENST00000480431,;IGSF11,non_coding_transcript_exon_variant,,ENST00000459718,;	453	265	277	SUCCESS
CCSER1	401145	.	GRCh37	4	91230460	91230460	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	63	177	0	ENST00000509176.1:c.1025C>T	p.Ala342Val	p.A342V	ENST00000509176	NM_001145065.1	342	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47099.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCTGCTA	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.05)	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Ala342Val,ENST00000509176,;CCSER1,missense_variant,p.Ala342Val,ENST00000333691,;CCSER1,missense_variant,p.Ala342Val,ENST00000432775,;CCSER1,missense_variant,p.Ala342Val,ENST00000505073,;CCSER1,upstream_gene_variant,,ENST00000514352,;CCSER1,upstream_gene_variant,,ENST00000508086,;CCSER1,upstream_gene_variant,,ENST00000508550,;	1313	177	197	SUCCESS
FLNC	2318	.	GRCh37	7	128475630	128475630	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	68	0	ENST00000325888.8:c.601+2T>A		p.X201_splice	ENST00000325888	NM_001458.4	201		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43644.1	.	MUTECT|MUSE	.	CCCGGTGAGTG	NONE	.	.	.	.	.	ENSP00000327145	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	HIGH	2/47	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,splice_donor_variant,,ENST00000325888,;FLNC,splice_donor_variant,,ENST00000346177,;	.	68	58	SUCCESS
PRSS1	5644	.	GRCh37	7	142460286	142460286	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	547	44	496	1	ENST00000311737.7:c.459C>T	p.Asp153=	p.D153=	ENST00000311737	NM_002769.4	153	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS5872.1	459	MUTECT|MUSE	.	GCCGACTACCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,synonymous_variant,p.%3D,ENST00000486171,;PRSS1,synonymous_variant,p.%3D,ENST00000311737,;PRSS1,synonymous_variant,p.%3D,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	465	497	591	SUCCESS
TOX	9760	.	GRCh37	8	59852023	59852023	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	9	190	0	ENST00000361421.1:c.249G>A	p.Leu83=	p.L83=	ENST00000361421	NM_014729.2	83	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34897.1	249	MUTECT|MUSE	.	TGCACCAGCGA	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155	.	.	ENSP00000354842	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000361421	Transcript	.	.	ENSG00000198846	18988	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOX_HUMAN	TOX	HGNC	B4DYA1_HUMAN	.	UPI0000070A73	SNV	TOX,synonymous_variant,p.%3D,ENST00000361421,;	470	190	194	SUCCESS
LRRC69	100130742	.	GRCh37	8	92212905	92212905	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	83	265	0	ENST00000448384.2:c.818T>C	p.Ile273Thr	p.I273T	ENST00000448384	NM_001129890.1	273	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	.	818	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATAGAAC	NONE	.	.	.	.	.	ENSP00000400803	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000448384	Transcript	.	.	ENSG00000214954	34303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	.	deleterious(0)	.	LRC69_HUMAN	LRRC69	HGNC	E5RJ66_HUMAN	.	UPI00006C0DD3	SNV	LRRC69,missense_variant,p.Ile117Thr,ENST00000343709,;LRRC69,missense_variant,p.Ile273Thr,ENST00000448384,;MIR4661,upstream_gene_variant,,ENST00000582720,;LRRC69,3_prime_UTR_variant,,ENST00000520099,;	818	265	280	SUCCESS
CNTRL	11064	.	GRCh37	9	123914653	123914653	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	15	0	ENST00000238341.5:c.3964-110T>A		p.*1322*	ENST00000238341	NM_007018.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35118.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTTTGGG	NONE	.	.	.	.	.	ENSP00000362962	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373855	Transcript	.	.	ENSG00000119397	1858	.	.	MODIFIER	25/43	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTRL_HUMAN	CNTRL	HGNC	Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN	.	UPI0000211718	SNV	CNTRL,intron_variant,,ENST00000373847,;CNTRL,intron_variant,,ENST00000373855,;CNTRL,intron_variant,,ENST00000431571,;CNTRL,intron_variant,,ENST00000373850,;CNTRL,intron_variant,,ENST00000238341,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373845,;CNTRL,downstream_gene_variant,,ENST00000373851,;	.	15	16	SUCCESS
SLC9A6	10479	.	GRCh37	X	135122263	135122263	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs782196157	.	TCGA-MR-A520-01	TCGA-MR-A520-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	83	103	0	ENST00000370698.3:c.1660G>C	p.Gly554Arg	p.G554R	ENST00000370698	NM_006359.2	554	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS44003.1	1756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGGGCCT	NONE	.	.	hmmpanther:PTHR10110:SF94,hmmpanther:PTHR10110,Prints_domain:PR01088	.	.	ENSP00000359729	.	15/16	.	.	.	.	.	.	.	.	rs782196157	15/16	PASS	ENST00000370695	Transcript	.	.	ENSG00000198689	11079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.34)	.	SL9A6_HUMAN	SLC9A6	HGNC	Q8WYK8_HUMAN,B4DLY9_HUMAN,B4DK83_HUMAN	.	UPI0000062320	SNV	SLC9A6,missense_variant,p.Gly586Arg,ENST00000370695,;SLC9A6,missense_variant,p.Gly554Arg,ENST00000370698,;SLC9A6,missense_variant,p.Gly534Arg,ENST00000370701,;	1791	103	133	SUCCESS
PCGF6	84108	.	GRCh37	10	105110539	105110539	+	synonymous_variant	Silent	SNP	C	C	T	rs1564737554	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	74	0	ENST00000369847.3:c.285G>A	p.Glu95=	p.E95=	ENST00000369847	NM_001011663.1	95	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS31275.1	285	MUTECT|MUSE	.	TCCTCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10825:SF24,hmmpanther:PTHR10825	.	.	ENSP00000358862	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000369847	Transcript	.	.	ENSG00000156374	21156	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCGF6_HUMAN	PCGF6	HGNC	.	.	UPI00001F9669	SNV	PCGF6,synonymous_variant,p.%3D,ENST00000369847,;PCGF6,synonymous_variant,p.%3D,ENST00000337211,;PCGF6,non_coding_transcript_exon_variant,,ENST00000490296,;PCGF6,upstream_gene_variant,,ENST00000492755,;	353	74	63	SUCCESS
FAM196A	0	.	GRCh37	10	128936279	128936279	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	71	0	ENST00000522781.1:c.1262A>T	p.Glu421Val	p.E421V	ENST00000522781	NM_001039762.2	421	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS31312.1	1262	MUTECT|MUSE	.	CCAGCTCCACA	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000429763	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000522781	Transcript	.	.	ENSG00000188916	33859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	F196A_HUMAN	FAM196A	HGNC	.	.	UPI00001C0E37	SNV	FAM196A,missense_variant,p.Glu421Val,ENST00000522781,;FAM196A,missense_variant,p.Glu397Val,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,;	1818	71	61	SUCCESS
FRMD4A	55691	.	GRCh37	10	13698860	13698860	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	33	0	ENST00000357447.2:c.2729G>A	p.Gly910Asp	p.G910D	ENST00000357447	NM_018027.3	910	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7101.1	2729	MUTECT|MUSE	.	CGCGGCCCAGC	NONE	.	.	hmmpanther:PTHR23281:SF12,hmmpanther:PTHR23281	.	.	ENSP00000350032	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000357447	Transcript	.	.	ENSG00000151474	25491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	tolerated(0.08)	.	FRM4A_HUMAN	FRMD4A	HGNC	F8WAN4_HUMAN	.	UPI0000366665	SNV	FRMD4A,missense_variant,p.Gly910Asp,ENST00000357447,;FRMD4A,missense_variant,p.Gly895Asp,ENST00000358621,;FRMD4A,missense_variant,p.Gly910Asp,ENST00000378503,;RP11-295P9.3,downstream_gene_variant,,ENST00000601460,;FRMD4A,non_coding_transcript_exon_variant,,ENST00000495956,;RP11-295P9.3,intron_variant,,ENST00000593351,;RP11-295P9.3,downstream_gene_variant,,ENST00000599639,;FRMD4A,upstream_gene_variant,,ENST00000475325,;RP11-295P9.3,downstream_gene_variant,,ENST00000600511,;RP11-295P9.3,downstream_gene_variant,,ENST00000600249,;RP11-295P9.3,downstream_gene_variant,,ENST00000593358,;RP11-295P9.3,downstream_gene_variant,,ENST00000601758,;RP11-295P9.3,downstream_gene_variant,,ENST00000596499,;RP11-295P9.3,downstream_gene_variant,,ENST00000596235,;RP11-295P9.3,downstream_gene_variant,,ENST00000430721,;RP11-295P9.3,downstream_gene_variant,,ENST00000594575,;RP11-295P9.3,downstream_gene_variant,,ENST00000419851,;RP11-295P9.3,downstream_gene_variant,,ENST00000597920,;RP11-295P9.3,downstream_gene_variant,,ENST00000598625,;	3098	33	48	SUCCESS
E2F8	79733	.	GRCh37	11	19256542	19256542	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1363350887	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	106	0	ENST00000250024.4:c.515G>A	p.Arg172His	p.R172H	ENST00000250024	NM_024680.3	172	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS7849.1	515	RADIA|MUSE|VARSCANS	.	CGAGGCGGCTC	NONE	.	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF40,Pfam_domain:PF02319,Gene3D:1.10.10.10,Superfamily_domains:SSF46785	.	.	ENSP00000434199	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000527884	Transcript	.	.	ENSG00000129173	24727	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	E2F8_HUMAN	E2F8	HGNC	E9PMT9_HUMAN	.	UPI00001F9E94	SNV	E2F8,missense_variant,p.Arg172His,ENST00000527884,;E2F8,missense_variant,p.Arg172His,ENST00000250024,;E2F8,downstream_gene_variant,,ENST00000532666,;RP11-428C19.4,intron_variant,,ENST00000527978,;	748	106	87	SUCCESS
OR5M8	219484	.	GRCh37	11	56257944	56257944	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	6	157	0	ENST00000327216.2:c.903C>G	p.Ile301Met	p.I301M	ENST00000327216	NM_001005282.1	301	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS31533.1	903	MUTECT|MUSE	.	TCTTTGATTAA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF146,hmmpanther:PTHR26452	.	.	ENSP00000323354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327216	Transcript	.	.	ENSG00000181371	14846	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	deleterious(0.04)	.	OR5M8_HUMAN	OR5M8	HGNC	.	.	UPI00000405CC	SNV	OR5M8,missense_variant,p.Ile301Met,ENST00000327216,;	928	157	105	SUCCESS
SMTNL1	219537	.	GRCh37	11	57310235	57310235	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	24	230	0	ENST00000399154.2:c.120G>A	p.Lys40=	p.K40=	ENST00000399154		40	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	.	174	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGGCCAT	NONE	.	.	hmmpanther:PTHR25069	.	.	ENSP00000406485	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000457912	Transcript	.	.	ENSG00000214872	32394	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SMTNL1	HGNC	E9PPJ3_HUMAN,C9J621_HUMAN	.	UPI0000DD8085	SNV	SMTNL1,synonymous_variant,p.%3D,ENST00000399154,;SMTNL1,synonymous_variant,p.%3D,ENST00000527972,;SMTNL1,synonymous_variant,p.%3D,ENST00000457912,;	174	230	166	SUCCESS
OSBP	5007	.	GRCh37	11	59369293	59369293	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs370601390	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	113	0	ENST00000263847.1:c.841A>G	p.Met281Val	p.M281V	ENST00000263847	NM_002556.2	281	Atg/Gtg	0	G:0	.	.	.	.	C	M/V	protein_coding	YES	CCDS7974.1	841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACATGAGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF52	.	G:0.0003	ENSP00000263847	.	4/14	.	.	.	.	.	.	.	.	rs370601390	4/14	PASS	ENST00000263847	Transcript	.	.	ENSG00000110048	8503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.13)	.	OSBP1_HUMAN	OSBP	HGNC	B4DR25_HUMAN	.	UPI0000130EAF	SNV	OSBP,missense_variant,p.Met281Val,ENST00000263847,;OSBP,upstream_gene_variant,,ENST00000528903,;OSBP,upstream_gene_variant,,ENST00000525357,;	1321	113	80	SUCCESS
CCND2	894	.	GRCh37	12	4385334	4385334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	72	0	ENST00000261254.3:c.359C>A	p.Ala120Glu	p.A120E	ENST00000261254	NM_001759.3	120	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS8524.1	359	MUTECT|MUSE|VARSCANS	.	GACCGCGGAGA	NONE	.	.	Superfamily_domains:SSF47954,SMART_domains:SM00385,PIRSF_domain:PIRSF001771,Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10177:SF66,hmmpanther:PTHR10177	.	.	ENSP00000261254	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000261254	Transcript	.	.	ENSG00000118971	1583	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	CCND2_HUMAN	CCND2	HGNC	.	.	UPI00001275C5	SNV	CCND2,missense_variant,p.Ala36Glu,ENST00000536537,;CCND2,missense_variant,p.Ala120Glu,ENST00000261254,;CCND2-AS1,non_coding_transcript_exon_variant,,ENST00000539135,;CCND2-AS2,upstream_gene_variant,,ENST00000537370,;CCND2,upstream_gene_variant,,ENST00000541542,;CCND2,upstream_gene_variant,,ENST00000536795,;	628	72	63	SUCCESS
STARD13	90627	.	GRCh37	13	33704163	33704163	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	48	0	ENST00000336934.5:c.651A>G	p.Thr217=	p.T217=	ENST00000336934	NM_178006.3	217	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS9348.1	651	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCTGTACA	NONE	.	.	hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659	.	.	ENSP00000338785	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000336934	Transcript	.	.	ENSG00000133121	19164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STA13_HUMAN	STARD13	HGNC	B3KT04_HUMAN,B2R789_HUMAN	.	UPI000006226E	SNV	STARD13,synonymous_variant,p.%3D,ENST00000567873,;STARD13,synonymous_variant,p.%3D,ENST00000336934,;STARD13,synonymous_variant,p.%3D,ENST00000255486,;STARD13,synonymous_variant,p.%3D,ENST00000399365,;	768	48	36	SUCCESS
THBS1	7057	.	GRCh37	15	39874936	39874936	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760002107	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	37	0	ENST00000260356.5:c.610G>A	p.Val204Ile	p.V204I	ENST00000260356	NM_003246.2	204	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS32194.1	610	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGTCAAT	NONE	byFrequency	.	hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000260356	.	3/22	.	.	.	.	.	.	.	.	rs760002107	3/22	PASS	ENST00000260356	Transcript	.	.	ENSG00000137801	11785	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.44)	.	TSP1_HUMAN	THBS1	HGNC	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN	.	UPI00001FE219	SNV	THBS1,missense_variant,p.Val204Ile,ENST00000260356,;THBS1,downstream_gene_variant,,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000466755,;THBS1,upstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000478845,;	775	37	30	SUCCESS
BAHD1	22893	.	GRCh37	15	40758269	40758270	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	134	29	162	0	ENST00000416165.1:c.2285dup	p.Leu763ProfsTer7	p.L763Pfs*7	ENST00000416165	NM_014952.3	761	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS10058.1	2283-2284	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGTGTTCCT	NONE	.	.	PROSITE_profiles:PS51038,hmmpanther:PTHR12505,Pfam_domain:PF01426,SMART_domains:SM00439	.	.	ENSP00000396976	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000416165	Transcript	.	.	ENSG00000140320	29153	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAHD1_HUMAN	BAHD1	HGNC	.	.	UPI000013D778	insertion	BAHD1,frameshift_variant,p.Leu760ProfsTer7,ENST00000560846,;BAHD1,frameshift_variant,p.Leu763ProfsTer7,ENST00000416165,;BAHD1,frameshift_variant,p.Leu762ProfsTer7,ENST00000561234,;CHST14,upstream_gene_variant,,ENST00000306243,;RP11-64K12.8,intron_variant,,ENST00000559730,;BAHD1,downstream_gene_variant,,ENST00000561464,;	2354-2355	162	163	SUCCESS
MLLT6	4302	.	GRCh37	17	36863263	36863263	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	102	1	ENST00000325718.7:c.170A>G	p.Gln57Arg	p.Q57R	ENST00000325718	NM_005937.3	57	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS11327.1	170	MUTECT|MUSE	.	ATCTCAGGAGC	NONE	.	.	Superfamily_domains:SSF57903,Gene3D:3.30.40.10,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF82,PROSITE_profiles:PS50016	.	.	ENSP00000316426	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000325718	Transcript	.	.	ENSG00000108292	7138	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	AF17_HUMAN	MLLT6	HGNC	.	.	UPI000013C86A	SNV	MLLT6,missense_variant,p.Gln57Arg,ENST00000325718,;MLLT6,missense_variant,p.Gln57Arg,ENST00000378137,;MIR4734,upstream_gene_variant,,ENST00000581337,;CTB-58E17.1,downstream_gene_variant,,ENST00000563897,;CTB-58E17.3,upstream_gene_variant,,ENST00000583409,;MLLT6,non_coding_transcript_exon_variant,,ENST00000579179,;MLLT6,non_coding_transcript_exon_variant,,ENST00000464666,;MLLT6,non_coding_transcript_exon_variant,,ENST00000578946,;MLLT6,upstream_gene_variant,,ENST00000466997,;	261	103	94	SUCCESS
ANKFY1	51479	.	GRCh37	17	4113210	4113210	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	65	0	ENST00000341657.4:c.491T>C	p.Val164Ala	p.V164A	ENST00000341657	NM_016376.3	164	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS58502.1	617	MUTECT|MUSE	.	TCCTGACATTC	NONE	.	.	hmmpanther:PTHR24189	.	.	ENSP00000459943	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000570535	Transcript	.	.	ENSG00000185722	20763	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.492)	.	deleterious(0)	.	ANFY1_HUMAN	ANKFY1	HGNC	I3L1Z9_HUMAN	.	UPI00003FECB0	SNV	ANKFY1,missense_variant,p.Val164Ala,ENST00000433651,;ANKFY1,missense_variant,p.Val164Ala,ENST00000574367,;ANKFY1,missense_variant,p.Val164Ala,ENST00000341657,;ANKFY1,missense_variant,p.Val206Ala,ENST00000570535,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;ANKFY1,upstream_gene_variant,,ENST00000573250,;	734	65	44	SUCCESS
PPM1D	8493	.	GRCh37	17	58740434	58740434	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs1315208220	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	16	117	0	ENST00000305921.3:c.1339G>T	p.Glu447Ter	p.E447*	ENST00000305921	NM_003620.3	447	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11625.1	1339	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAGAGAAT	NONE	.	.	.	.	.	ENSP00000306682	.	6/6	.	.	.	.	.	.	.	.	COSM137114	6/6	PASS	ENST00000305921	Transcript	.	.	ENSG00000170836	9277	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PPM1D_HUMAN	PPM1D	HGNC	.	.	UPI0000130FE8	SNV	PPM1D,stop_gained,p.Glu447Ter,ENST00000305921,;RNU6-623P,upstream_gene_variant,,ENST00000363143,;PPM1D,3_prime_UTR_variant,,ENST00000392995,;	1571	117	97	SUCCESS
MED13	9969	.	GRCh37	17	60059776	60059776	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	11	142	0	ENST00000397786.2:c.3588C>A	p.Cys1196Ter	p.C1196*	ENST00000397786	NM_005121.2	1196	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS42366.1	3588	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTGCACTG	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950	.	.	ENSP00000380888	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,stop_gained,p.Cys1196Ter,ENST00000397786,;	3665	142	96	SUCCESS
MED13	9969	.	GRCh37	17	60059777	60059777	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	141	0	ENST00000397786.2:c.3587G>A	p.Cys1196Tyr	p.C1196Y	ENST00000397786	NM_005121.2	1196	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS42366.1	3587	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGCACTGA	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950	.	.	ENSP00000380888	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Cys1196Tyr,ENST00000397786,;	3664	141	94	SUCCESS
XAF1	54739	.	GRCh37	17	6665519	6665519	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	50	0	ENST00000361842.3:c.467G>T	p.Cys156Phe	p.C156F	ENST00000361842	NM_017523.3	156	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS11080.1	467	MUTECT|MUSE	.	TTATTGCAACC	NONE	.	.	hmmpanther:PTHR16295,hmmpanther:PTHR16295:SF15	.	.	ENSP00000354822	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000361842	Transcript	.	.	ENSG00000132530	30932	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	XAF1_HUMAN	XAF1	HGNC	I3L3D9_HUMAN	.	UPI000020078D	SNV	XAF1,missense_variant,p.Cys156Phe,ENST00000441631,;XAF1,missense_variant,p.Ala189Ser,ENST00000574907,;XAF1,missense_variant,p.Cys156Phe,ENST00000361842,;XAF1,missense_variant,p.Cys137Phe,ENST00000346752,;XAF1,downstream_gene_variant,,ENST00000438512,;XAF1,downstream_gene_variant,,ENST00000574394,;XAF1,downstream_gene_variant,,ENST00000572107,;XAF1,downstream_gene_variant,,ENST00000575267,;XAF1,downstream_gene_variant,,ENST00000576459,;XAF1,missense_variant,p.Ala72Ser,ENST00000571217,;XAF1,3_prime_UTR_variant,,ENST00000576724,;XAF1,3_prime_UTR_variant,,ENST00000575369,;XAF1,non_coding_transcript_exon_variant,,ENST00000573518,;XAF1,intron_variant,,ENST00000574962,;XAF1,intron_variant,,ENST00000571673,;XAF1,downstream_gene_variant,,ENST00000572546,;XAF1,downstream_gene_variant,,ENST00000575147,;XAF1,downstream_gene_variant,,ENST00000576341,;XAF1,downstream_gene_variant,,ENST00000573760,;XAF1,downstream_gene_variant,,ENST00000572495,;XAF1,downstream_gene_variant,,ENST00000571135,;	706	50	47	SUCCESS
PIK3R5	23533	.	GRCh37	17	8792534	8792534	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759640442	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	48	0	ENST00000447110.1:c.817G>A	p.Ala273Thr	p.A273T	ENST00000447110	NM_001251855.1	273	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11147.1	817	MUTECT|MUSE	.	TTTTGCAGTGT	SITE|p.A273T|c.817G>A|4	.	.	Pfam_domain:PF10486,hmmpanther:PTHR15593:SF2,hmmpanther:PTHR15593	.	.	ENSP00000392812	.	9/19	.	.	.	.	.	.	.	.	rs759640442,COSM1738255	9/19	PASS	ENST00000447110	Transcript	.	.	ENSG00000141506	30035	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0.005)	.	tolerated(0.18)	0,1	PI3R5_HUMAN	PIK3R5	HGNC	L7RT34_HUMAN,J3KT66_HUMAN,J3KRE9_HUMAN	.	UPI0000071DB4	SNV	PIK3R5,missense_variant,p.Ala273Thr,ENST00000584803,;PIK3R5,missense_variant,p.Ala273Thr,ENST00000581552,;PIK3R5,missense_variant,p.Ala273Thr,ENST00000447110,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583812,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000580959,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578457,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,upstream_gene_variant,,ENST00000583039,;PIK3R5,upstream_gene_variant,,ENST00000577214,;	942	48	39	SUCCESS
ZFP28	140612	.	GRCh37	19	57065959	57065959	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	22	165	0	ENST00000301318.3:c.1805T>C	p.Ile602Thr	p.I602T	ENST00000301318	NM_020828.1	602	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS12946.1	1805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATATACACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000301318	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000301318	Transcript	.	.	ENSG00000196867	17801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	tolerated(0.38)	.	ZFP28_HUMAN	ZFP28	HGNC	Q68CX9_HUMAN	.	UPI000006D90E	SNV	ZFP28,missense_variant,p.Ile602Thr,ENST00000301318,;ZFP28,downstream_gene_variant,,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,;	1876	165	142	SUCCESS
ATP1A1	476	.	GRCh37	1	116940569	116940569	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	72	0	ENST00000295598.5:c.2033T>C	p.Leu678Pro	p.L678P	ENST00000295598	NM_000701.7	678	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS53351.1	2033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTGGATG	NONE	.	.	hmmpanther:PTHR24093:SF222,hmmpanther:PTHR24093,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00702	.	.	ENSP00000445306	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000537345	Transcript	.	.	ENSG00000163399	799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	AT1A1_HUMAN	ATP1A1	HGNC	Q5TC02_HUMAN,Q5TC01_HUMAN	.	UPI0001A471A4	SNV	ATP1A1,missense_variant,p.Leu678Pro,ENST00000537345,;ATP1A1,missense_variant,p.Leu647Pro,ENST00000369496,;ATP1A1,missense_variant,p.Leu678Pro,ENST00000295598,;ATP1A1,upstream_gene_variant,,ENST00000440951,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1OS,downstream_gene_variant,,ENST00000493908,;ATP1A1,upstream_gene_variant,,ENST00000479960,;	2396	72	49	SUCCESS
TBX19	9095	.	GRCh37	1	168274288	168274288	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	64	0	ENST00000367821.3:c.770C>T	p.Ala257Val	p.A257V	ENST00000367821	NM_005149.2	257	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1272.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCAGGAA	NONE	.	.	hmmpanther:PTHR11267:SF16,hmmpanther:PTHR11267	.	.	ENSP00000356795	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000367821	Transcript	.	.	ENSG00000143178	11596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.218)	.	tolerated(0.25)	.	TBX19_HUMAN	TBX19	HGNC	.	.	UPI000003176C	SNV	TBX19,missense_variant,p.Ala90Val,ENST00000441464,;TBX19,missense_variant,p.Ala257Val,ENST00000367821,;TBX19,intron_variant,,ENST00000431969,;TBX19,upstream_gene_variant,,ENST00000465440,;	821	64	65	SUCCESS
RGS7	6000	.	GRCh37	1	240976978	240976978	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	95	0	ENST00000366565.1:c.896C>G	p.Pro299Arg	p.P299R	ENST00000366565	NM_002924.4	299	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS31071.1	896	MUTECT|MUSE	.	CAGGTGGCAAA	NONE	.	.	Superfamily_domains:SSF48670,SMART_domains:SM00224,Gene3D:4.10.260.10,Pfam_domain:PF00631,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26	.	.	ENSP00000355523	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000366565	Transcript	.	.	ENSG00000182901	10003	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.28)	.	deleterious(0.03)	.	RGS7_HUMAN	RGS7	HGNC	.	.	UPI000040E182	SNV	RGS7,missense_variant,p.Pro130Arg,ENST00000440928,;RGS7,missense_variant,p.Pro273Arg,ENST00000331110,;RGS7,missense_variant,p.Pro215Arg,ENST00000446183,;RGS7,missense_variant,p.Pro246Arg,ENST00000401882,;RGS7,missense_variant,p.Pro299Arg,ENST00000366564,;RGS7,missense_variant,p.Pro299Arg,ENST00000366565,;RGS7,missense_variant,p.Pro299Arg,ENST00000366562,;RGS7,missense_variant,p.Pro299Arg,ENST00000407727,;RGS7,missense_variant,p.Pro299Arg,ENST00000366563,;RGS7,missense_variant,p.Pro246Arg,ENST00000348120,;	1278	95	103	SUCCESS
RNF220	55182	.	GRCh37	1	45111132	45111132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	27	132	0	ENST00000355387.2:c.1417A>G	p.Lys473Glu	p.K473E	ENST00000355387		473	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS510.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGAAGACC	NONE	.	.	hmmpanther:PTHR13459	.	.	ENSP00000347548	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000355387	Transcript	.	.	ENSG00000187147	25552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	tolerated(0.34)	.	RN220_HUMAN	RNF220	HGNC	D3DPZ1_HUMAN	.	UPI000035895E	SNV	RNF220,missense_variant,p.Lys189Glu,ENST00000440132,;RNF220,missense_variant,p.Lys473Glu,ENST00000361799,;RNF220,missense_variant,p.Lys215Glu,ENST00000335497,;RNF220,missense_variant,p.Lys260Glu,ENST00000443020,;RNF220,missense_variant,p.Lys473Glu,ENST00000355387,;RNF220,missense_variant,p.Lys473Glu,ENST00000372247,;TMEM53,missense_variant,p.Phe153Ser,ENST00000372242,;TMEM53,missense_variant,p.Phe63Ser,ENST00000372243,;TMEM53,synonymous_variant,p.%3D,ENST00000372244,;RNF220,non_coding_transcript_exon_variant,,ENST00000474394,;RNF220,non_coding_transcript_exon_variant,,ENST00000484745,;RNF220,non_coding_transcript_exon_variant,,ENST00000480686,;RNF220,non_coding_transcript_exon_variant,,ENST00000474064,;RNF220,non_coding_transcript_exon_variant,,ENST00000475378,;TMEM53,intron_variant,,ENST00000495630,;RNF220,upstream_gene_variant,,ENST00000474956,;RNF220,downstream_gene_variant,,ENST00000497469,;RNF220,downstream_gene_variant,,ENST00000471494,;	1867	132	116	SUCCESS
PCSK9	255738	.	GRCh37	1	55521763	55521763	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	6	142	0	ENST00000302118.5:c.897C>T	p.Ala299=	p.A299=	ENST00000302118	NM_174936.3	299	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS603.1	897	MUTECT|MUSE	.	AACGCCGCCTG	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	.	.	ENSP00000303208	.	6/12	.	.	.	.	.	.	.	.	COSM1126981	6/12	PASS	ENST00000302118	Transcript	.	.	ENSG00000169174	20001	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PCSK9_HUMAN	PCSK9	HGNC	.	.	UPI00001615E1	SNV	PCSK9,synonymous_variant,p.%3D,ENST00000543384,;PCSK9,synonymous_variant,p.%3D,ENST00000302118,;PCSK9,downstream_gene_variant,,ENST00000452118,;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;	1187	142	138	SUCCESS
CHRNA4	1137	.	GRCh37	20	61981058	61981058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	8	118	0	ENST00000370263.4:c.1705G>A	p.Glu569Lys	p.E569K	ENST00000370263	NM_000744.6	569	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13517.1	1705	MUTECT|MUSE|VARSCANS	.	GCCCTCCACCG	BUFFER|p.A567V|c.1700C>T|3	.	.	hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000359285	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000370263	Transcript	1	.	ENSG00000101204	1958	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.755)	.	deleterious(0.01)	.	ACHA4_HUMAN	CHRNA4	HGNC	Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN	.	UPI000012523B	SNV	CHRNA4,missense_variant,p.Glu569Lys,ENST00000370263,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;	1927	118	91	SUCCESS
ZRANB3	84083	.	GRCh37	2	136071142	136071142	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	79	0	ENST00000264159.6:c.883A>T	p.Ile295Leu	p.I295L	ENST00000264159	NM_032143.2	295	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS46419.1	883	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATTTTTT	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF205	.	.	ENSP00000264159	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000264159	Transcript	.	.	ENSG00000121988	25249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ZRAB3_HUMAN	ZRANB3	HGNC	.	.	UPI0000509F0C	SNV	ZRANB3,missense_variant,p.Ile295Leu,ENST00000401392,;ZRANB3,missense_variant,p.Ile295Leu,ENST00000536680,;ZRANB3,missense_variant,p.Ile295Leu,ENST00000264159,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000452187,;ZRANB3,missense_variant,p.Ile295Leu,ENST00000403017,;	1000	79	80	SUCCESS
PRKRA	8575	.	GRCh37	2	179315872	179315872	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	45	0	ENST00000325748.4:c.-115G>C		p.*39*	ENST00000325748	NM_003690.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2279.1	.	MUTECT|MUSE	.	CTCCCCCGCCT	NONE	.	.	.	.	.	ENSP00000318176	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000325748	Transcript	.	.	ENSG00000180228	9438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRKRA_HUMAN	PRKRA	HGNC	G5E9Q4_HUMAN,B4DJC7_HUMAN	.	UPI0000073B07	SNV	PRKRA,5_prime_UTR_variant,,ENST00000438687,;PRKRA,5_prime_UTR_variant,,ENST00000325748,;DFNB59,upstream_gene_variant,,ENST00000442710,;PRKRA,upstream_gene_variant,,ENST00000432031,;DFNB59,upstream_gene_variant,,ENST00000375129,;PRKRA,upstream_gene_variant,,ENST00000487082,;DFNB59,upstream_gene_variant,,ENST00000409117,;PRKRA,upstream_gene_variant,,ENST00000457633,;PRKRA,intron_variant,,ENST00000470200,;PRKRA,upstream_gene_variant,,ENST00000460433,;DFNB59,upstream_gene_variant,,ENST00000605419,;PRKRA,5_prime_UTR_variant,,ENST00000424699,;PRKRA,non_coding_transcript_exon_variant,,ENST00000463882,;PRKRA,upstream_gene_variant,,ENST00000466165,;DFNB59,upstream_gene_variant,,ENST00000444615,;DFNB59,upstream_gene_variant,,ENST00000437056,;PRKRA,upstream_gene_variant,,ENST00000448279,;AC009948.7,upstream_gene_variant,,ENST00000437039,;	87	45	27	SUCCESS
C2orf81	388963	.	GRCh37	2	74643047	74643047	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	59	0	ENST00000290390.5:c.266C>A	p.Pro89Gln	p.P89Q	ENST00000290390	NM_001145054.1	89	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	.	266	MUTECT|MUSE	.	TGAATGGAATG	NONE	.	.	Pfam_domain:PF15479	.	.	ENSP00000290390	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000290390	Transcript	.	.	ENSG00000159239	34350	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	C2orf81	HGNC	G3XAA6_HUMAN	.	UPI0000EE2496	SNV	C2orf81,missense_variant,p.Pro89Gln,ENST00000517896,;C2orf81,missense_variant,p.Pro89Gln,ENST00000290390,;C2orf81,5_prime_UTR_variant,,ENST00000517883,;C2orf81,5_prime_UTR_variant,,ENST00000518863,;C2orf81,downstream_gene_variant,,ENST00000518401,;HMGA1P8,downstream_gene_variant,,ENST00000414130,;AC005041.11,upstream_gene_variant,,ENST00000448783,;	575	59	54	SUCCESS
SEC61A1	29927	.	GRCh37	3	127774426	127774426	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	78	0	ENST00000243253.3:c.141+2T>C		p.X47_splice	ENST00000243253	NM_013336.3	47		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3046.1	.	MUTECT|MUSE	.	CCAGGTAAGCT	NONE	.	.	.	.	.	ENSP00000243253	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000243253	Transcript	.	.	ENSG00000058262	18276	.	.	HIGH	3/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S61A1_HUMAN	SEC61A1	HGNC	B3KNG2_HUMAN,C9JXC6_HUMAN,B3KNF6_HUMAN,B3KME8_HUMAN	.	UPI00000041A9	SNV	SEC61A1,splice_donor_variant,,ENST00000481210,;SEC61A1,splice_donor_variant,,ENST00000243253,;SEC61A1,splice_donor_variant,,ENST00000464451,;SEC61A1,intron_variant,,ENST00000424880,;SEC61A1,splice_donor_variant,,ENST00000491668,;	.	78	58	SUCCESS
BCHE	590	.	GRCh37	3	165504094	165504094	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	85	0	ENST00000264381.3:c.1523del	p.Pro508GlnfsTer22	p.P508Qfs*22	ENST00000264381	NM_000055.2	508	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS3198.1	1523	INDELOCATOR*|PINDEL	.	TCATTTGGATTC	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559:SF154,hmmpanther:PTHR11559	.	.	ENSP00000264381	.	3/4	.	.	.	.	.	.	.	.	COSM3589648	3/4	PASS	ENST00000264381	Transcript	.	.	ENSG00000114200	983	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CHLE_HUMAN	BCHE	HGNC	Q96HL2_HUMAN,F8WF14_HUMAN,D3DNN4_HUMAN	.	UPI0000127866	deletion	BCHE,frameshift_variant,p.Pro508GlnfsTer22,ENST00000264381,;BCHE,frameshift_variant,p.Pro38GlnfsTer22,ENST00000479451,;BCHE,frameshift_variant,p.Pro38GlnfsTer22,ENST00000488954,;BCHE,5_prime_UTR_variant,,ENST00000540653,;BCHE,frameshift_variant,p.Pro508GlnfsTer22,ENST00000497011,;BCHE,3_prime_UTR_variant,,ENST00000482958,;	1690	85	64	SUCCESS
STAB1	23166	.	GRCh37	3	52550761	52550761	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	30	142	0	ENST00000321725.6:c.4340C>A	p.Ser1447Tyr	p.S1447Y	ENST00000321725	NM_015136.2	1447	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS33768.1	4340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCCGGCA	NONE	.	.	Low_complexity_(Seg):seg,SMART_domains:SM00181,Gene3D:2.40.155.10,PROSITE_patterns:PS01186,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	.	.	ENSP00000312946	.	41/69	.	.	.	.	.	.	.	.	.	41/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.519)	.	deleterious(0.01)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ser1447Tyr,ENST00000321725,;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;STAB1,upstream_gene_variant,,ENST00000481626,;	4416	142	152	SUCCESS
PRDM5	11107	.	GRCh37	4	121616413	121616413	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	70	0	ENST00000264808.3:c.1746del	p.Phe582LeufsTer3	p.F582Lfs*3	ENST00000264808	NM_018699.2	582	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS3716.1	1746	VARSCANI*|PINDEL	.	CAGGCTAAAAGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF17,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000264808	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000264808	Transcript	1	.	ENSG00000138738	9349	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRDM5_HUMAN	PRDM5	HGNC	.	.	UPI000013D572	deletion	PRDM5,frameshift_variant,p.Phe551LeufsTer3,ENST00000428209,;PRDM5,frameshift_variant,p.Phe582LeufsTer3,ENST00000264808,;PRDM5,3_prime_UTR_variant,,ENST00000515109,;PRDM5,non_coding_transcript_exon_variant,,ENST00000506065,;PRDM5,intron_variant,,ENST00000513741,;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;	1987	70	57	SUCCESS
N4BP2	55728	.	GRCh37	4	40098980	40098980	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	7	105	0	ENST00000261435.6:c.20A>G	p.Asn7Ser	p.N7S	ENST00000261435	NM_018177.4	7	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3457.1	20	MUTECT|MUSE|VARSCANS	.	GAAAAATCTTG	NONE	.	.	.	.	.	ENSP00000261435	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.063)	.	tolerated(0.12)	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,missense_variant,p.Asn7Ser,ENST00000261435,;N4BP2,intron_variant,,ENST00000515550,;N4BP2,missense_variant,p.Asn7Ser,ENST00000511480,;	436	105	65	SUCCESS
SPINK5	11005	.	GRCh37	5	147477477	147477477	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	85	0	ENST00000256084.7:c.930C>G	p.Phe310Leu	p.F310L	ENST00000256084	NM_006846.3	310	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS47300.1	930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCTGTAC	NONE	.	.	PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Gene3D:1.10.1890.10,SMART_domains:SM00280,Superfamily_domains:SSF100895	.	.	ENSP00000352936	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000359874	Transcript	1	.	ENSG00000133710	15464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	deleterious(0.04)	.	ISK5_HUMAN	SPINK5	HGNC	.	.	UPI000020CF25	SNV	SPINK5,missense_variant,p.Phe310Leu,ENST00000398454,;SPINK5,missense_variant,p.Phe310Leu,ENST00000256084,;SPINK5,missense_variant,p.Phe291Leu,ENST00000508733,;SPINK5,missense_variant,p.Phe310Leu,ENST00000359874,;SPINK5,non_coding_transcript_exon_variant,,ENST00000481286,;SPINK5,non_coding_transcript_exon_variant,,ENST00000476608,;SPINK5,non_coding_transcript_exon_variant,,ENST00000507988,;SPINK5,downstream_gene_variant,,ENST00000476697,;	1003	85	88	SUCCESS
GABBR1	2550	.	GRCh37	6	29599274	29599274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	8	95	0	ENST00000377034.4:c.188T>A	p.Ile63Asn	p.I63N	ENST00000377034	NM_001470.2	63	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS4663.1	188	MUTECT|MUSE|VARSCANS	.	ACTCAATCTCA	NONE	.	.	Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000366233	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,missense_variant,p.Ile63Asn,ENST00000462632,;GABBR1,missense_variant,p.Ile63Asn,ENST00000377016,;GABBR1,missense_variant,p.Ile63Asn,ENST00000376977,;GABBR1,missense_variant,p.Ile68Asn,ENST00000476670,;GABBR1,missense_variant,p.Ile63Asn,ENST00000377034,;GABBR1,upstream_gene_variant,,ENST00000355973,;GABBR1,upstream_gene_variant,,ENST00000377012,;GABBR1,missense_variant,p.Ile63Asn,ENST00000485508,;GABBR1,missense_variant,p.Ile63Asn,ENST00000494877,;GABBR1,missense_variant,p.Ile63Asn,ENST00000472823,;GABBR1,missense_variant,p.Ile63Asn,ENST00000491829,;GABBR1,missense_variant,p.Ile63Asn,ENST00000489385,;GABBR1,non_coding_transcript_exon_variant,,ENST00000467259,;SUMO2P1,downstream_gene_variant,,ENST00000445436,;	524	95	95	SUCCESS
KCP	375616	.	GRCh37	7	128524140	128524140	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1248822206	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	9	136	0	ENST00000476647.2:n.3203C>T		p.*1068*	ENST00000476647				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CCGCCGGTGAC	NONE	.	.	.	.	.	.	.	29/40	.	.	.	.	.	.	.	.	.	29/40	PASS	ENST00000476647	Transcript	.	.	ENSG00000135253	17585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KCP	HGNC	.	.	.	SNV	KCP,non_coding_transcript_exon_variant,,ENST00000476647,;KCP,non_coding_transcript_exon_variant,,ENST00000441244,;KCP,non_coding_transcript_exon_variant,,ENST00000297801,;KCP,upstream_gene_variant,,ENST00000460528,;KCP,upstream_gene_variant,,ENST00000492679,;	3203	136	116	SUCCESS
CEP41	95681	.	GRCh37	7	130067812	130067812	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	49	0	ENST00000223208.5:c.81A>G	p.Lys27=	p.K27=	ENST00000223208	NM_018718.2	27	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS5821.1	81	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATTTGAT	NONE	.	.	hmmpanther:PTHR13253,hmmpanther:PTHR13253:SF53	.	.	ENSP00000223208	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000223208	Transcript	.	.	ENSG00000106477	12370	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CEP41_HUMAN	CEP41	HGNC	C9JXA0_HUMAN,C9J9X8_HUMAN,C9J6R3_HUMAN,C9IZ34_HUMAN	.	UPI000006D546	SNV	CEP41,synonymous_variant,p.%3D,ENST00000477003,;CEP41,synonymous_variant,p.%3D,ENST00000343969,;CEP41,synonymous_variant,p.%3D,ENST00000223208,;CEP41,synonymous_variant,p.%3D,ENST00000469826,;CEP41,synonymous_variant,p.%3D,ENST00000489512,;CEP41,synonymous_variant,p.%3D,ENST00000541543,;CEP41,upstream_gene_variant,,ENST00000492389,;CEP41,upstream_gene_variant,,ENST00000472739,;CEP41,non_coding_transcript_exon_variant,,ENST00000495702,;CEP41,non_coding_transcript_exon_variant,,ENST00000334451,;CEP41,synonymous_variant,p.%3D,ENST00000484549,;CEP41,synonymous_variant,p.%3D,ENST00000471201,;CEP41,non_coding_transcript_exon_variant,,ENST00000498527,;CEP41,upstream_gene_variant,,ENST00000482730,;	352	49	37	SUCCESS
DPP6	1804	.	GRCh37	7	154667656	154667656	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769755446	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	89	0	ENST00000377770.3:c.1924G>A	p.Glu642Lys	p.E642K	ENST00000377770		642	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	1924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCGAGGTG	NONE	byFrequency	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00326,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	20/26	.	.	.	.	.	.	.	.	rs769755446	20/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.76)	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Glu535Lys,ENST00000427557,;DPP6,missense_variant,p.Glu642Lys,ENST00000377770,;DPP6,missense_variant,p.Glu580Lys,ENST00000332007,;DPP6,missense_variant,p.Glu578Lys,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000479637,;DPP6,non_coding_transcript_exon_variant,,ENST00000484789,;DPP6,non_coding_transcript_exon_variant,,ENST00000488512,;	2065	89	82	SUCCESS
DPP6	1804	.	GRCh37	7	154677362	154677362	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	89	0	ENST00000377770.3:c.2153G>A	p.Ser718Asn	p.S718N	ENST00000377770		718	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	.	2153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGCACCT	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00326,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	deleterious(0.01)	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Ser611Asn,ENST00000427557,;DPP6,missense_variant,p.Ser718Asn,ENST00000377770,;DPP6,missense_variant,p.Ser656Asn,ENST00000332007,;DPP6,missense_variant,p.Ser654Asn,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000480367,;DPP6,downstream_gene_variant,,ENST00000484789,;	2294	89	87	SUCCESS
PEX1	5189	.	GRCh37	7	92157758	92157758	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	11	98	0	ENST00000248633.4:c.-9T>A		p.*3*	ENST00000248633	NM_000466.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5627.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGAGCGTC	NONE	.	.	.	.	.	ENSP00000248633	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000248633	Transcript	.	.	ENSG00000127980	8850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEX1_HUMAN	PEX1	HGNC	Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN	.	UPI0000001C39	SNV	PEX1,5_prime_UTR_variant,,ENST00000248633,;RBM48,upstream_gene_variant,,ENST00000481551,;RBM48,upstream_gene_variant,,ENST00000496410,;PEX1,upstream_gene_variant,,ENST00000438045,;PEX1,upstream_gene_variant,,ENST00000428214,;RBM48,upstream_gene_variant,,ENST00000265732,;PEX1,upstream_gene_variant,,ENST00000484913,;	88	98	103	SUCCESS
CSMD3	114788	.	GRCh37	8	114449154	114449154	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	35	0	ENST00000297405.5:c.-71C>T		p.*24*	ENST00000297405	NM_198123.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCGGTCACA	NONE	.	.	.	.	.	ENSP00000297405	.	1/71	.	.	.	.	.	.	.	.	.	1/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,5_prime_UTR_variant,,ENST00000352409,;CSMD3,5_prime_UTR_variant,,ENST00000297405,;CSMD3,upstream_gene_variant,,ENST00000455883,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;CSMD3,upstream_gene_variant,,ENST00000493303,;	175	35	36	SUCCESS
COL5A1	1289	.	GRCh37	9	137696861	137696861	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377125301	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	85	0	ENST00000371817.3:c.3155C>T	p.Pro1052Leu	p.P1052L	ENST00000371817	NM_001278074.1	1052	cCt/cTt	0	T:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS6982.1	3155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCTCCAG	NONE	byCluster	.	hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	T:0.0001	ENSP00000360882	.	40/66	.	.	.	.	.	.	.	.	rs377125301	40/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Pro1052Leu,ENST00000371817,;COL5A1,upstream_gene_variant,,ENST00000463925,;	3569	85	75	SUCCESS
SEC31B	25956	.	GRCh37	10	102269156	102269156	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs554078291	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	54	0	ENST00000370345.3:c.316C>A	p.Leu106Met	p.L106M	ENST00000370345	NM_015490.3	106	Ctg/Atg	0	.	C:0	.	C:0	.	T	L/M	protein_coding	YES	CCDS7495.1	316	RADIA|MUSE	.	AGACAGGATGT	NONE	by1000G	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	C:0	.	ENSP00000359370	C:0.001	4/26	.	.	.	.	.	.	.	.	rs554078291	4/26	PASS	ENST00000370345	Transcript	.	C:0.0002	ENSG00000075826	23197	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.459)	C:0	tolerated(0.21)	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,missense_variant,p.Leu106Met,ENST00000370329,;SEC31B,missense_variant,p.Leu106Met,ENST00000370345,;SEC31B,missense_variant,p.Leu106Met,ENST00000451524,;NDUFB8,intron_variant,,ENST00000531258,;SEC31B,intron_variant,,ENST00000535773,;SEC31B,missense_variant,p.Leu106Met,ENST00000469546,;SEC31B,missense_variant,p.Leu106Met,ENST00000462434,;NDUFB8,3_prime_UTR_variant,,ENST00000529568,;NDUFB8,intron_variant,,ENST00000527595,;NDUFB8,intron_variant,,ENST00000557395,;SEC31B,intron_variant,,ENST00000479697,;SEC31B,intron_variant,,ENST00000480905,;SEC31B,intron_variant,,ENST00000482456,;SEC31B,upstream_gene_variant,,ENST00000490567,;SEC31B,upstream_gene_variant,,ENST00000484848,;	414	54	36	SUCCESS
ADAM12	8038	.	GRCh37	10	127760045	127760045	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	188	0	ENST00000368679.4:c.1332+1G>T		p.X444_splice	ENST00000368679	NM_003474.4	444		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7653.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACCTCTG	NONE	.	.	.	.	.	ENSP00000357668	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	HIGH	12/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,splice_donor_variant,,ENST00000368679,;ADAM12,splice_donor_variant,,ENST00000368676,;ADAM12,upstream_gene_variant,,ENST00000467145,;ADAM12,upstream_gene_variant,,ENST00000482291,;	.	188	86	SUCCESS
ADAM12	8038	.	GRCh37	10	127760046	127760046	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	189	0	ENST00000368679.4:c.1332G>T	p.Glu444Asp	p.E444D	ENST00000368679	NM_003474.4	444	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS7653.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTCTGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000357668	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	tolerated(0.2)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Glu444Asp,ENST00000368679,;ADAM12,missense_variant,p.Glu444Asp,ENST00000368676,;ADAM12,upstream_gene_variant,,ENST00000467145,;ADAM12,upstream_gene_variant,,ENST00000482291,;	1642	189	86	SUCCESS
AKR1E2	83592	.	GRCh37	10	4879675	4879675	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761782479	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	88	0	ENST00000298375.7:c.484G>A	p.Gly162Arg	p.G162R	ENST00000298375	NM_001040177.2	162	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31134.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGGGCTG	NONE	byFrequency	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF189,PROSITE_patterns:PS00062,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000298375	.	5/10	.	.	.	.	.	.	.	.	rs761782479	5/10	PASS	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0)	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,missense_variant,p.Gly162Arg,ENST00000334019,;AKR1E2,missense_variant,p.Gly166Arg,ENST00000533295,;AKR1E2,missense_variant,p.Gly162Arg,ENST00000532248,;AKR1E2,missense_variant,p.Gly162Arg,ENST00000298375,;AKR1E2,intron_variant,,ENST00000345253,;AKR1E2,upstream_gene_variant,,ENST00000487985,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000462718,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000525627,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000525281,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000441590,;AKR1E2,missense_variant,p.Gly162Arg,ENST00000463345,;AKR1E2,missense_variant,p.Gly58Arg,ENST00000474119,;AKR1E2,3_prime_UTR_variant,,ENST00000525572,;	555	88	95	SUCCESS
CTR9	9646	.	GRCh37	11	10796824	10796824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	62	0	ENST00000361367.2:c.2956C>A	p.Pro986Thr	p.P986T	ENST00000361367	NM_014633.3	986	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS7805.1	2956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTCCACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2	.	.	ENSP00000355013	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000361367	Transcript	.	.	ENSG00000198730	16850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.49)	.	CTR9_HUMAN	CTR9	HGNC	.	.	UPI000006F32A	SNV	CTR9,missense_variant,p.Pro986Thr,ENST00000361367,;CTR9,downstream_gene_variant,,ENST00000529898,;	3382	62	43	SUCCESS
MUC2	4583	.	GRCh37	11	1095258	1095258	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	15	134	0	ENST00000441003.2:c.6078G>A	p.Lys2026=	p.K2026=	ENST00000441003	NM_002457.2	2026	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	.	6078	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGTCGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	32/49	.	.	.	.	.	.	.	.	.	32/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000361558,;MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,3_prime_UTR_variant,,ENST00000333592,;MUC2,downstream_gene_variant,,ENST00000359061,;	6105	134	150	SUCCESS
ARHGAP20	57569	.	GRCh37	11	110477435	110477435	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	71	0	ENST00000260283.4:c.814C>T	p.Arg272Ter	p.R272*	ENST00000260283	NM_020809.3	272	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS31673.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCGAAGAT	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF24,Pfam_domain:PF00788,Superfamily_domains:SSF54236	.	.	ENSP00000260283	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000260283	Transcript	.	.	ENSG00000137727	18357	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG20_HUMAN	ARHGAP20	HGNC	.	.	UPI000013D0BA	SNV	ARHGAP20,stop_gained,p.Arg272Ter,ENST00000260283,;ARHGAP20,stop_gained,p.Arg236Ter,ENST00000527598,;ARHGAP20,stop_gained,p.Arg236Ter,ENST00000528829,;ARHGAP20,stop_gained,p.Arg246Ter,ENST00000357139,;ARHGAP20,stop_gained,p.Arg246Ter,ENST00000533353,;ARHGAP20,stop_gained,p.Arg249Ter,ENST00000524756,;	1099	71	52	SUCCESS
BCO2	83875	.	GRCh37	11	112064703	112064703	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs556041453	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	64	0	ENST00000357685.5:c.619G>T	p.Glu207Ter	p.E207*	ENST00000357685		207	Gaa/Taa	0	.	C:0	.	C:0	.	T	E/*	protein_coding	YES	CCDS8358.2	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGAAAAA	NONE	by1000G	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF23,Pfam_domain:PF03055	C:0	.	ENSP00000350314	C:0	4/12	.	.	.	.	.	.	.	.	rs556041453	4/12	PASS	ENST00000357685	Transcript	.	C:0.0002	ENSG00000197580	18503	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	BCDO2_HUMAN	BCO2	HGNC	E9PS89_HUMAN,B0YIX6_HUMAN	.	UPI00005FB124	SNV	BCO2,stop_gained,p.Glu173Ter,ENST00000531169,;BCO2,stop_gained,p.Glu173Ter,ENST00000526088,;BCO2,stop_gained,p.Glu173Ter,ENST00000438022,;BCO2,stop_gained,p.Glu207Ter,ENST00000357685,;BCO2,stop_gained,p.Glu102Ter,ENST00000532593,;BCO2,stop_gained,p.Glu106Ter,ENST00000530677,;BCO2,stop_gained,p.Glu173Ter,ENST00000393032,;AP002884.3,intron_variant,,ENST00000532612,;BCO2,intron_variant,,ENST00000361053,;SDHD,downstream_gene_variant,,ENST00000525468,;BCO2,3_prime_UTR_variant,,ENST00000527939,;BCO2,non_coding_transcript_exon_variant,,ENST00000494860,;BCO2,non_coding_transcript_exon_variant,,ENST00000460924,;BCO2,intron_variant,,ENST00000534550,;SDHD,downstream_gene_variant,,ENST00000525987,;BCO2,downstream_gene_variant,,ENST00000531003,;SDHD,downstream_gene_variant,,ENST00000532699,;BCO2,downstream_gene_variant,,ENST00000534122,;	754	64	64	SUCCESS
USP2	9099	.	GRCh37	11	119228275	119228275	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	105	0	ENST00000260187.2:c.1527G>A	p.Arg509=	p.R509=	ENST00000260187	NM_004205.4	509	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8422.1	1527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATCCTGGA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000260187	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000260187	Transcript	.	.	ENSG00000036672	12618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP2_HUMAN	USP2	HGNC	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN	.	UPI00001379D8	SNV	USP2,synonymous_variant,p.%3D,ENST00000455332,;USP2,synonymous_variant,p.%3D,ENST00000525735,;USP2,synonymous_variant,p.%3D,ENST00000260187,;USP2,downstream_gene_variant,,ENST00000532613,;USP2,downstream_gene_variant,,ENST00000525189,;	1822	105	117	SUCCESS
LSP1	4046	.	GRCh37	11	1888129	1888129	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	13	0	ENST00000311604.3:c.54-13188A>G		p.*18*	ENST00000311604	NM_002339.2	142		0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS58110.1	425	RADIA|MUTECT|MUSE	.	CACCAACTGCA	NONE	.	.	.	.	.	ENSP00000371194	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000381775	Transcript	.	.	ENSG00000130592	6707	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.14)	.	LSP1_HUMAN	LSP1	HGNC	Q9UEV8_HUMAN,Q9UEV7_HUMAN,E9PBD8_HUMAN,C9JNQ1_HUMAN,C9JKF7_HUMAN,C9J9B9_HUMAN	.	UPI000013F8D0	SNV	LSP1,missense_variant,p.Asn142Ser,ENST00000381775,;LSP1,intron_variant,,ENST00000446808,;LSP1,intron_variant,,ENST00000311604,;LSP1,intron_variant,,ENST00000421485,;LSP1,upstream_gene_variant,,ENST00000418975,;LSP1,upstream_gene_variant,,ENST00000406638,;LSP1,upstream_gene_variant,,ENST00000429923,;LSP1,upstream_gene_variant,,ENST00000457279,;LSP1,upstream_gene_variant,,ENST00000405957,;LSP1,upstream_gene_variant,,ENST00000417766,;LSP1,upstream_gene_variant,,ENST00000451814,;AC051649.12,downstream_gene_variant,,ENST00000509204,;LSP1,upstream_gene_variant,,ENST00000472974,;	533	13	12	SUCCESS
NUP98	4928	.	GRCh37	11	3707425	3707425	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	101	0	ENST00000359171.4:c.4455-2754G>C		p.*1485*	ENST00000359171				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7746.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTCTGCAA	NONE	.	.	.	.	.	ENSP00000316032	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	HIGH	28/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	NUP98,splice_acceptor_variant,,ENST00000429801,;NUP98,splice_acceptor_variant,,ENST00000324932,;NUP98,intron_variant,,ENST00000359171,;NUP98,intron_variant,,ENST00000355260,;NUP98,splice_acceptor_variant,,ENST00000524563,;	.	101	101	SUCCESS
RAB3IL1	5866	.	GRCh37	11	61666807	61666807	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	43	0	ENST00000394836.2:c.1045C>G	p.Gln349Glu	p.Q349E	ENST00000394836	NM_013401.3	349	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS8014.1	1045	MUTECT|MUSE	.	GCCTTGCTGGA	NONE	.	.	hmmpanther:PTHR14430:SF1,hmmpanther:PTHR14430	.	.	ENSP00000378313	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000394836	Transcript	.	.	ENSG00000167994	9780	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.257)	.	deleterious(0)	.	R3GEF_HUMAN	RAB3IL1	HGNC	.	.	UPI000007260E	SNV	RAB3IL1,missense_variant,p.Gln2Glu,ENST00000526200,;RAB3IL1,missense_variant,p.Gln323Glu,ENST00000301773,;RAB3IL1,missense_variant,p.Gln349Glu,ENST00000394836,;RAB3IL1,non_coding_transcript_exon_variant,,ENST00000533136,;RAB3IL1,downstream_gene_variant,,ENST00000530888,;	1203	43	40	SUCCESS
SLC3A2	6520	.	GRCh37	11	62648802	62648802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	39	1	ENST00000377890.2:c.610A>G	p.Ile204Val	p.I204V	ENST00000377890	NM_002394.5	204	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31588.1	613	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCATAATCGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10357:SF12,hmmpanther:PTHR10357	.	.	ENSP00000367123	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000377891	Transcript	.	.	ENSG00000168003	11026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.599)	.	tolerated(0.08)	.	.	SLC3A2	HGNC	J3KPF3_HUMAN,F5H867_HUMAN,F5H056_HUMAN,F5GZI0_HUMAN,B4E2Z3_HUMAN	.	UPI00004EC298	SNV	SLC3A2,missense_variant,p.Ile235Val,ENST00000377892,;SLC3A2,missense_variant,p.Ile103Val,ENST00000338663,;SLC3A2,missense_variant,p.Ile205Val,ENST00000377891,;SLC3A2,missense_variant,p.Ile175Val,ENST00000538084,;SLC3A2,missense_variant,p.Ile204Val,ENST00000377890,;SLC3A2,missense_variant,p.Ile142Val,ENST00000377889,;SLC3A2,missense_variant,p.Ile103Val,ENST00000544377,;SLC3A2,missense_variant,p.Ile173Val,ENST00000535296,;SLC3A2,intron_variant,,ENST00000539458,;SLC3A2,upstream_gene_variant,,ENST00000539891,;SLC3A2,downstream_gene_variant,,ENST00000541372,;SLC3A2,upstream_gene_variant,,ENST00000536981,;SLC3A2,upstream_gene_variant,,ENST00000539507,;SLC3A2,upstream_gene_variant,,ENST00000546253,;SLC3A2,upstream_gene_variant,,ENST00000538682,;SLC3A2,upstream_gene_variant,,ENST00000537839,;SLC3A2,upstream_gene_variant,,ENST00000537508,;SLC3A2,upstream_gene_variant,,ENST00000457660,;SLC3A2,upstream_gene_variant,,ENST00000541649,;SLC3A2,upstream_gene_variant,,ENST00000535768,;SLC3A2,upstream_gene_variant,,ENST00000542922,;SLC3A2,upstream_gene_variant,,ENST00000541425,;SLC3A2,upstream_gene_variant,,ENST00000546312,;	772	40	45	SUCCESS
IPO7	10527	.	GRCh37	11	9450696	9450696	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	145	0	ENST00000379719.3:c.1544T>A	p.Val515Glu	p.V515E	ENST00000379719	NM_006391.2	515	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS31425.1	1544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTGGAAG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	SNV	IPO7,missense_variant,p.Val515Glu,ENST00000379719,;SNORA23,downstream_gene_variant,,ENST00000365128,;CTD-2371O3.2,downstream_gene_variant,,ENST00000531111,;IPO7,downstream_gene_variant,,ENST00000530037,;	1686	145	108	SUCCESS
HNF1A	6927	.	GRCh37	12	121431983	121431983	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	41	133	1	ENST00000257555.6:c.730A>G	p.Arg244Gly	p.R244G	ENST00000257555		244	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9209.1	730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGAGAGGG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000257555	.	4/10	.	.	.	.	.	.	.	.	COSM21473	4/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Arg244Gly,ENST00000541395,;HNF1A,missense_variant,p.Arg244Gly,ENST00000400024,;HNF1A,missense_variant,p.Arg244Gly,ENST00000402929,;HNF1A,missense_variant,p.Arg127Gly,ENST00000543427,;HNF1A,missense_variant,p.Arg244Gly,ENST00000544413,;HNF1A,missense_variant,p.Arg244Gly,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Arg292Gly,ENST00000560968,;HNF1A,synonymous_variant,p.%3D,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000541924,;HNF1A,upstream_gene_variant,,ENST00000543255,;	956	134	148	SUCCESS
HNF1A	6927	.	GRCh37	12	121434162	121434164	+	frameshift_variant	Frame_Shift_Del	DEL	GTC	GTC	TT	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	GTC	GTC	.	.	.	.	.	.	.	.	.	.	.	.	.	113	27	143	0	ENST00000257555.6:c.1053_1055delinsTT	p.Thr354ArgfsTer10	p.T354Rfs*10	ENST00000257555		351	gtGTCc/gtTTc	0	.	.	.	.	.	TT	VS/VX	protein_coding	YES	CCDS9209.1	1053-1055	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCAAGTGTCCCCCA	NONE	.	.	hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF04812	.	.	ENSP00000257555	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	substitution	HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000541395,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000400024,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000402929,;HNF1A,frameshift_variant,p.Thr237ArgfsTer10,ENST00000543427,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000544413,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;RP11-216P16.2,downstream_gene_variant,,ENST00000606238,;HNF1A,3_prime_UTR_variant,,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000541924,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,upstream_gene_variant,,ENST00000543255,;	1279-1281	143	140	SUCCESS
TARBP2	6895	.	GRCh37	12	53898479	53898479	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	94	0	ENST00000266987.2:c.496-3A>G		p.X166_splice	ENST00000266987	NM_134323.1	166		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8861.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAAGGAG	NONE	.	.	.	.	.	ENSP00000266987	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266987	Transcript	.	.	ENSG00000139546	11569	.	.	LOW	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRBP2_HUMAN	TARBP2	HGNC	H3BV98_HUMAN	.	UPI0000071D96	SNV	TARBP2,splice_region_variant,,ENST00000552817,;TARBP2,splice_region_variant,,ENST00000394357,;TARBP2,splice_region_variant,,ENST00000456234,;TARBP2,splice_region_variant,,ENST00000552857,;TARBP2,splice_region_variant,,ENST00000550407,;TARBP2,splice_region_variant,,ENST00000266987,;ATF7,downstream_gene_variant,,ENST00000548446,;RP11-793H13.10,downstream_gene_variant,,ENST00000591834,;NPFF,downstream_gene_variant,,ENST00000609999,;MAP3K12,upstream_gene_variant,,ENST00000548565,;NPFF,downstream_gene_variant,,ENST00000267017,;RP11-793H13.11,upstream_gene_variant,,ENST00000602306,;TARBP2,downstream_gene_variant,,ENST00000549028,;TARBP2,synonymous_variant,p.%3D,ENST00000549572,;TARBP2,splice_region_variant,,ENST00000550147,;TARBP2,splice_region_variant,,ENST00000547064,;TARBP2,splice_region_variant,,ENST00000551157,;TARBP2,splice_region_variant,,ENST00000547541,;TARBP2,splice_region_variant,,ENST00000549679,;TARBP2,splice_region_variant,,ENST00000546763,;TARBP2,splice_region_variant,,ENST00000548971,;TARBP2,splice_region_variant,,ENST00000551741,;RP11-793H13.10,downstream_gene_variant,,ENST00000448979,;TARBP2,downstream_gene_variant,,ENST00000552650,;TARBP2,downstream_gene_variant,,ENST00000546889,;TARBP2,downstream_gene_variant,,ENST00000549610,;TARBP2,downstream_gene_variant,,ENST00000547388,;	.	94	82	SUCCESS
OR9K2	441639	.	GRCh37	12	55524128	55524128	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	101	1	ENST00000305377.5:c.576T>C	p.Ser192=	p.S192=	ENST00000305377	NM_001005243.1	192	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31814.1	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTTTTTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF110,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000307598	.	1/1	.	.	.	.	.	.	.	.	COSM549096	1/1	PASS	ENST00000305377	Transcript	.	.	ENSG00000170605	15339	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR9K2_HUMAN	OR9K2	HGNC	.	.	UPI00003B287B	SNV	OR9K2,synonymous_variant,p.%3D,ENST00000305377,;	664	102	87	SUCCESS
ESYT1	23344	.	GRCh37	12	56526103	56526103	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773005777	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	42	164	2	ENST00000394048.5:c.971C>T	p.Ser324Phe	p.S324F	ENST00000394048	NM_001184796.1	324	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS53801.1	971	RADIA|VARSCANS	.	GCGTTCCCCTC	NONE	byFrequency	.	hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26	.	.	ENSP00000445952	.	8/32	.	.	.	.	.	.	.	.	rs773005777	8/32	PASS	ENST00000541590	Transcript	.	.	ENSG00000139641	29534	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	tolerated(0.16)	.	ESYT1_HUMAN	ESYT1	HGNC	F8VZB1_HUMAN	.	UPI0000D720B2	SNV	ESYT1,missense_variant,p.Ser324Phe,ENST00000267113,;ESYT1,missense_variant,p.Ser324Phe,ENST00000394048,;ESYT1,missense_variant,p.Ser324Phe,ENST00000541590,;ESYT1,downstream_gene_variant,,ENST00000551790,;RP11-603J24.5,upstream_gene_variant,,ENST00000549438,;RP11-603J24.5,upstream_gene_variant,,ENST00000550947,;ESYT1,downstream_gene_variant,,ENST00000550986,;ESYT1,downstream_gene_variant,,ENST00000550179,;	1024	167	141	SUCCESS
TMBIM4	51643	.	GRCh37	12	66531753	66531753	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	53	0	ENST00000358230.3:c.704T>G	p.Val235Gly	p.V235G	ENST00000358230	NM_016056.2	235	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS41805.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTAACTGCT	NONE	.	.	hmmpanther:PTHR23291:SF34,hmmpanther:PTHR23291	.	.	ENSP00000350965	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000358230	Transcript	.	.	ENSG00000155957	24257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.22)	.	LFG4_HUMAN	TMBIM4	HGNC	G3V1R8_HUMAN	.	UPI00001FC6E2	SNV	TMBIM4,missense_variant,p.Val204Gly,ENST00000542724,;TMBIM4,missense_variant,p.Val58Gly,ENST00000544599,;TMBIM4,missense_variant,p.Val235Gly,ENST00000358230,;TMBIM4,missense_variant,p.Val282Gly,ENST00000286424,;TMBIM4,3_prime_UTR_variant,,ENST00000398033,;TMBIM4,3_prime_UTR_variant,,ENST00000556010,;RP11-745O10.2,downstream_gene_variant,,ENST00000510317,;TMBIM4,3_prime_UTR_variant,,ENST00000545407,;TMBIM4,3_prime_UTR_variant,,ENST00000539652,;TMBIM4,non_coding_transcript_exon_variant,,ENST00000538217,;TMBIM4,downstream_gene_variant,,ENST00000545504,;TMBIM4,downstream_gene_variant,,ENST00000534930,;	825	53	47	SUCCESS
NANOG	79923	.	GRCh37	12	7945627	7945627	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771687755	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	55	179	0	ENST00000229307.4:c.233C>T	p.Thr78Ile	p.T78I	ENST00000229307	NM_024865.2	78	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS31736.1	233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACTTCTG	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF29,Gene3D:1.10.10.60	.	.	ENSP00000229307	.	2/4	.	.	.	.	.	.	.	.	rs771687755	2/4	PASS	ENST00000229307	Transcript	.	.	ENSG00000111704	20857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.08)	.	NANOG_HUMAN	NANOG	HGNC	J7H4F6_HUMAN,F5GZI2_HUMAN	.	UPI000013C8F5	SNV	NANOG,missense_variant,p.Thr78Ile,ENST00000526286,;NANOG,missense_variant,p.Thr54Ile,ENST00000541267,;NANOG,missense_variant,p.Thr78Ile,ENST00000229307,;NANOG,3_prime_UTR_variant,,ENST00000526434,;	452	179	119	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518184	85518184	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758320651	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	70	0	ENST00000393217.2:c.3894G>T	p.Lys1298Asn	p.K1298N	ENST00000393217	NM_001079910.1	1298	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS41816.1	3894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGAGAGA	NONE	byFrequency	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	rs758320651	17/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	tolerated(0.1)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Lys1298Asn,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	3955	70	68	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518185	85518185	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	69	0	ENST00000393217.2:c.3895A>T	p.Arg1299Ter	p.R1299*	ENST00000393217	NM_001079910.1	1299	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS41816.1	3895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAGAGAA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,stop_gained,p.Arg1299Ter,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	3956	69	67	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85554390	85554390	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	rs1302045567	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	46	0	ENST00000393217.2:c.4721-1G>C		p.X1574_splice	ENST00000393217	NM_001079910.1	1574		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41816.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAGATTCC	NONE	.	.	.	.	.	ENSP00000376910	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	HIGH	23/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,splice_acceptor_variant,,ENST00000393217,;LRRIQ1,upstream_gene_variant,,ENST00000526363,;LRRIQ1,splice_acceptor_variant,,ENST00000528777,;	.	46	47	SUCCESS
IRS2	8660	.	GRCh37	13	110437992	110437992	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	27	0	ENST00000375856.3:c.409C>T	p.Arg137Cys	p.R137C	ENST00000375856	NM_003749.2	137	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS9510.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCGGTACC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,missense_variant,p.Arg137Cys,ENST00000375856,;	924	27	36	SUCCESS
CPB2	1361	.	GRCh37	13	46638821	46638821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1398416151	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	45	145	0	ENST00000181383.4:c.758C>T	p.Thr253Ile	p.T253I	ENST00000181383	NM_001872.4	253	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS9401.1	758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTGTTCCG	NONE	.	.	hmmpanther:PTHR11705:SF17,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187,Prints_domain:PR00765	.	.	ENSP00000181383	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000181383	Transcript	.	.	ENSG00000080618	2300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CBPB2_HUMAN	CPB2	HGNC	.	.	UPI000013C764	SNV	CPB2,missense_variant,p.Thr216Ile,ENST00000439329,;CPB2,missense_variant,p.Thr253Ile,ENST00000181383,;CPB2-AS1,intron_variant,,ENST00000415033,;CPB2-AS1,intron_variant,,ENST00000606243,;CPB2-AS1,intron_variant,,ENST00000606991,;CPB2-AS1,intron_variant,,ENST00000606351,;	775	145	131	SUCCESS
KLHL1	57626	.	GRCh37	13	70293586	70293586	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	28	133	0	ENST00000377844.4:c.1930A>G	p.Thr644Ala	p.T644A	ENST00000377844	NM_020866.2	644	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9445.1	1930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGTGGCCA	NONE	.	.	hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715,Superfamily_domains:0052715	.	.	ENSP00000367075	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.14)	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,missense_variant,p.Thr451Ala,ENST00000545028,;KLHL1,missense_variant,p.Thr644Ala,ENST00000377844,;	2690	133	118	SUCCESS
LMO7	4008	.	GRCh37	13	76429476	76429476	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	45	158	0	ENST00000465261.2:c.3963-1166G>A		p.*1321*	ENST00000465261	NM_015842.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53876.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGTCTTT	NONE	.	.	.	.	.	ENSP00000433352	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODIFIER	25/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Gly1348Asp,ENST00000321797,;LMO7,missense_variant,p.Gly1225Asp,ENST00000526202,;LMO7,missense_variant,p.Gly1299Asp,ENST00000341547,;LMO7,intron_variant,,ENST00000357063,;LMO7,intron_variant,,ENST00000465261,;LMO7,intron_variant,,ENST00000377534,;LMO7,upstream_gene_variant,,ENST00000605961,;LMO7,non_coding_transcript_exon_variant,,ENST00000482116,;LMO7,non_coding_transcript_exon_variant,,ENST00000467686,;	.	158	154	SUCCESS
FBXL3	26224	.	GRCh37	13	77589641	77589641	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	132	0	ENST00000355619.5:c.546T>A	p.Thr182=	p.T182=	ENST00000355619	NM_012158.2	182	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9457.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGAGTATC	NONE	.	.	hmmpanther:PTHR23125:SF274,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000347834	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000355619	Transcript	.	.	ENSG00000005812	13599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL3_HUMAN	FBXL3	HGNC	.	.	UPI0000035C8B	SNV	FBXL3,synonymous_variant,p.%3D,ENST00000417323,;FBXL3,synonymous_variant,p.%3D,ENST00000355619,;FBXL3,non_coding_transcript_exon_variant,,ENST00000470210,;FBXL3,non_coding_transcript_exon_variant,,ENST00000477982,;FBXL3,non_coding_transcript_exon_variant,,ENST00000485797,;FBXL3,downstream_gene_variant,,ENST00000472949,;	871	132	102	SUCCESS
NDN	4692	.	GRCh37	15	23931535	23931535	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776066263	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	66	0	ENST00000331837.4:c.830A>G	p.Glu277Gly	p.E277G	ENST00000331837	NM_002487.2	277	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS10014.1	830	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACTCCATG	BUFFER|p.M276I|c.828G>A|3	byFrequency	.	hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	rs776066263	1/1	PASS	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	deleterious(0.02)	.	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,missense_variant,p.Glu277Gly,ENST00000331837,;	916	66	48	SUCCESS
UNC13C	440279	.	GRCh37	15	54590037	54590037	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	72	263	0	ENST00000260323.11:c.4017T>A	p.Ser1339=	p.S1339=	ENST00000260323	NM_001080534.1	1339	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45264.1	4017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGGGGC	BUFFER|p.R1343*|c.4027C>T|3	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000260323	.	11/32	.	.	.	.	.	.	.	.	.	11/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;	4017	263	243	SUCCESS
UNKL	64718	.	GRCh37	16	1417163	1417179	+	intron_variant	Intron	DEL	CCGATGTCCCCACAGCC	CCGATGTCCCCACAGCC	-	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	CCGATGTCCCCACAGCC	CCGATGTCCCCACAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	121	0	ENST00000389221.4:c.1887+64_1887+80del		p.*629*	ENST00000389221	NM_001193388.3			0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR*|PINDEL	.	ATGGTGCCGATGTCCCCACAGCCCCGCA	NONE	.	.	.	.	.	ENSP00000373873	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389221	Transcript	.	.	ENSG00000059145	14184	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UNKL_HUMAN	UNKL	HGNC	D6RA68_HUMAN	.	UPI0001AE676E	deletion	UNKL,frameshift_variant,p.Gly150HisfsTer55,ENST00000248104,;UNKL,frameshift_variant,p.Gly153HisfsTer55,ENST00000403703,;UNKL,frameshift_variant,p.Gly153HisfsTer55,ENST00000402641,;UNKL,frameshift_variant,p.Gly654HisfsTer55,ENST00000508903,;UNKL,frameshift_variant,p.Gly150HisfsTer55,ENST00000391893,;UNKL,intron_variant,,ENST00000397464,;UNKL,intron_variant,,ENST00000389221,;UNKL,downstream_gene_variant,,ENST00000513783,;GNPTG,downstream_gene_variant,,ENST00000529110,;GNPTG,downstream_gene_variant,,ENST00000204679,;UNKL,upstream_gene_variant,,ENST00000562537,;UNKL,downstream_gene_variant,,ENST00000515195,;UNKL,non_coding_transcript_exon_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000527076,;GNPTG,downstream_gene_variant,,ENST00000527168,;GNPTG,downstream_gene_variant,,ENST00000529957,;	.	121	143	SUCCESS
IGFALS	3483	.	GRCh37	16	1843688	1843688	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs758458126	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	53	0	ENST00000215539.3:c.-35C>T		p.*12*	ENST00000215539				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53982.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAGGGAGG	NONE	byFrequency	.	.	.	.	ENSP00000416683	.	1/2	.	.	.	.	.	.	.	.	rs758458126	1/2	PASS	ENST00000415638	Transcript	.	.	ENSG00000099769	5468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALS_HUMAN	IGFALS	HGNC	.	.	UPI00019863AB	SNV	IGFALS,5_prime_UTR_variant,,ENST00000215539,;SPSB3,5_prime_UTR_variant,,ENST00000569769,;IGFALS,5_prime_UTR_variant,,ENST00000415638,;IGFALS,intron_variant,,ENST00000568221,;NUBP2,downstream_gene_variant,,ENST00000543305,;NUBP2,downstream_gene_variant,,ENST00000565987,;HAGH,downstream_gene_variant,,ENST00000564445,;NUBP2,downstream_gene_variant,,ENST00000262302,;NUBP2,downstream_gene_variant,,ENST00000568706,;NUBP2,downstream_gene_variant,,ENST00000565603,;NUBP2,downstream_gene_variant,,ENST00000567700,;NUBP2,downstream_gene_variant,,ENST00000568834,;	46	53	63	SUCCESS
GTF3C1	2975	.	GRCh37	16	27549250	27549250	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	65	0	ENST00000356183.4:c.609-2A>T		p.X203_splice	ENST00000356183	NM_001520.3	203		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32414.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTGGAGG	NONE	.	.	.	.	.	ENSP00000348510	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	HIGH	3/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,splice_acceptor_variant,,ENST00000561623,;GTF3C1,splice_acceptor_variant,,ENST00000356183,;	.	65	73	SUCCESS
VPS35	55737	.	GRCh37	16	46716005	46716005	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	8	186	0	ENST00000299138.7:c.185G>C	p.Ser62Thr	p.S62T	ENST00000299138	NM_018206.4	62	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS10721.1	185	MUTECT|MUSE	.	AGTAACTCTTT	NONE	.	.	hmmpanther:PTHR11099,Pfam_domain:PF03635,PIRSF_domain:PIRSF009375	.	.	ENSP00000299138	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000299138	Transcript	.	.	ENSG00000069329	13487	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.144)	.	tolerated(0.51)	.	VPS35_HUMAN	VPS35	HGNC	.	.	UPI0000138BEF	SNV	VPS35,missense_variant,p.Ser62Thr,ENST00000299138,;VPS35,upstream_gene_variant,,ENST00000568642,;VPS35,3_prime_UTR_variant,,ENST00000568612,;VPS35,3_prime_UTR_variant,,ENST00000561713,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,non_coding_transcript_exon_variant,,ENST00000568191,;VPS35,intron_variant,,ENST00000569950,;VPS35,upstream_gene_variant,,ENST00000563884,;VPS35,downstream_gene_variant,,ENST00000563984,;VPS35,upstream_gene_variant,,ENST00000565228,;	244	186	140	SUCCESS
SETD6	79918	.	GRCh37	16	58549753	58549753	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760561004	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	24	0	ENST00000219315.4:c.86G>T	p.Cys29Phe	p.C29F	ENST00000219315		29	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS54013.1	86	MUTECT|MUSE	.	CTGGTGCCGGC	NONE	byFrequency	.	hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Gene3D:2h21C01,PIRSF_domain:PIRSF011771,Superfamily_domains:SSF82199	.	.	ENSP00000219315	.	2/8	.	.	.	.	.	.	.	.	rs760561004,COSM3988553	2/8	PASS	ENST00000219315	Transcript	.	.	ENSG00000103037	26116	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.98)	.	deleterious(0)	0,1	SETD6_HUMAN	SETD6	HGNC	.	.	UPI000013C779	SNV	SETD6,missense_variant,p.Cys29Phe,ENST00000394266,;SETD6,missense_variant,p.Cys29Phe,ENST00000310682,;SETD6,missense_variant,p.Cys29Phe,ENST00000447443,;SETD6,missense_variant,p.Cys29Phe,ENST00000219315,;NDRG4,downstream_gene_variant,,ENST00000563799,;NDRG4,downstream_gene_variant,,ENST00000569408,;NDRG4,downstream_gene_variant,,ENST00000566192,;NDRG4,downstream_gene_variant,,ENST00000569923,;NDRG4,downstream_gene_variant,,ENST00000394282,;NDRG4,downstream_gene_variant,,ENST00000570248,;NDRG4,downstream_gene_variant,,ENST00000394279,;NDRG4,downstream_gene_variant,,ENST00000569026,;CNOT1,downstream_gene_variant,,ENST00000245138,;NDRG4,downstream_gene_variant,,ENST00000568640,;CNOT1,downstream_gene_variant,,ENST00000317147,;CNOT1,downstream_gene_variant,,ENST00000569240,;NDRG4,downstream_gene_variant,,ENST00000258187,;NDRG4,downstream_gene_variant,,ENST00000356752,;NDRG4,downstream_gene_variant,,ENST00000562999,;SETD6,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,missense_variant,p.Cys20Phe,ENST00000422445,;SETD6,missense_variant,p.Cys29Phe,ENST00000427443,;SETD6,non_coding_transcript_exon_variant,,ENST00000492050,;SETD6,non_coding_transcript_exon_variant,,ENST00000470003,;SETD6,non_coding_transcript_exon_variant,,ENST00000468223,;SETD6,upstream_gene_variant,,ENST00000467320,;SETD6,upstream_gene_variant,,ENST00000463954,;NDRG4,downstream_gene_variant,,ENST00000566061,;NDRG4,downstream_gene_variant,,ENST00000561681,;NDRG4,downstream_gene_variant,,ENST00000563209,;CNOT1,downstream_gene_variant,,ENST00000563130,;NDRG4,downstream_gene_variant,,ENST00000566265,;NDRG4,downstream_gene_variant,,ENST00000565981,;CNOT1,downstream_gene_variant,,ENST00000567188,;NDRG4,downstream_gene_variant,,ENST00000421602,;SETD6,upstream_gene_variant,,ENST00000491587,;	136	24	18	SUCCESS
HYDIN	54768	.	GRCh37	16	71019100	71019100	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs540834594	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	73	0	ENST00000393567.2:c.4320C>G	p.Ile1440Met	p.I1440M	ENST00000393567	NM_001270974.1	1440	atC/atG	0	.	T:0	.	T:0	.	C	I/M	protein_coding	YES	CCDS59269.1	4320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGATTAG	NONE	by1000G	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	T:0	.	ENSP00000377197	T:0	28/86	.	.	.	.	.	.	.	.	rs540834594	28/86	PASS	ENST00000393567	Transcript	.	T:0.0002	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	T:0.001	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Ile1440Met,ENST00000393567,;HYDIN,3_prime_UTR_variant,,ENST00000393552,;	4471	73	67	SUCCESS
ZFHX3	463	.	GRCh37	16	72829983	72829983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	121	1	ENST00000268489.5:c.6598G>A	p.Glu2200Lys	p.E2200K	ENST00000268489	NM_006885.3	2200	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10908.1	6598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCTTTGA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,PROSITE_patterns:PS00027,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000268489	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Glu1286Lys,ENST00000397992,;ZFHX3,missense_variant,p.Glu2200Lys,ENST00000268489,;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;	7271	122	111	SUCCESS
SHISA6	388336	.	GRCh37	17	11166833	11166833	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	51	211	0	ENST00000409168.3:c.789G>A	p.Lys263=	p.K263=	ENST00000409168	NM_001173461.1	263	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS45615.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGCAGAC	NONE	.	.	hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,Pfam_domain:PF13908	.	.	ENSP00000390084	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000441885	Transcript	.	.	ENSG00000188803	34491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHSA6_HUMAN	SHISA6	HGNC	.	.	UPI000183CBD8	SNV	SHISA6,synonymous_variant,p.%3D,ENST00000432116,;SHISA6,synonymous_variant,p.%3D,ENST00000343478,;SHISA6,synonymous_variant,p.%3D,ENST00000409168,;SHISA6,synonymous_variant,p.%3D,ENST00000441885,;AC005725.1,downstream_gene_variant,,ENST00000517193,;	949	211	104	SUCCESS
KIAA0100	9703	.	GRCh37	17	26948494	26948494	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762354501	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	77	0	ENST00000528896.2:c.4982G>T	p.Arg1661Leu	p.R1661L	ENST00000528896	NM_014680.3	1661	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS32595.1	4982	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGGTGC	NONE	.	.	hmmpanther:PTHR15678	.	.	ENSP00000436773	.	27/39	.	.	.	.	.	.	.	.	rs762354501	27/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.28)	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,missense_variant,p.Arg1518Leu,ENST00000544884,;KIAA0100,missense_variant,p.Arg1518Leu,ENST00000389003,;KIAA0100,missense_variant,p.Arg1661Leu,ENST00000528896,;SPAG5-AS1,downstream_gene_variant,,ENST00000554154,;SPAG5-AS1,downstream_gene_variant,,ENST00000414744,;SPAG5-AS1,downstream_gene_variant,,ENST00000424210,;KIAA0100,upstream_gene_variant,,ENST00000579924,;KIAA0100,upstream_gene_variant,,ENST00000580395,;KIAA0100,upstream_gene_variant,,ENST00000583860,;SPAG5-AS1,downstream_gene_variant,,ENST00000584675,;	5057	77	62	SUCCESS
AXIN2	8313	.	GRCh37	17	63554756	63554756	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	13	0	ENST00000307078.5:c.-18G>T		p.*6*	ENST00000307078	NM_004655.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11662.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CTTCCCACTGA	NONE	.	.	.	.	.	ENSP00000302625	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,5_prime_UTR_variant,,ENST00000585045,;AXIN2,5_prime_UTR_variant,,ENST00000577278,;AXIN2,5_prime_UTR_variant,,ENST00000375702,;AXIN2,5_prime_UTR_variant,,ENST00000307078,;AXIN2,5_prime_UTR_variant,,ENST00000544103,;AXIN2,5_prime_UTR_variant,,ENST00000580513,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;	297	13	13	SUCCESS
ABCA6	23460	.	GRCh37	17	67080447	67080447	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	100	0	ENST00000284425.2:c.4310A>G	p.Asp1437Gly	p.D1437G	ENST00000284425	NM_080284.2	1437	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS11683.1	4310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATCCAGG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF13,hmmpanther:PTHR19229,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000284425	.	34/39	.	.	.	.	.	.	.	.	.	34/39	PASS	ENST00000284425	Transcript	.	.	ENSG00000154262	36	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ABCA6_HUMAN	ABCA6	HGNC	.	.	UPI000013DD9D	SNV	ABCA6,missense_variant,p.Asp1437Gly,ENST00000284425,;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,downstream_gene_variant,,ENST00000589482,;	4485	100	105	SUCCESS
DVL2	1856	.	GRCh37	17	7131298	7131298	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs781418768	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	48	171	0	ENST00000005340.5:c.1100G>T	p.Arg367Leu	p.R367L	ENST00000005340	NM_004422.2	367	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11091.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTTCGGGGG	NONE	byFrequency	.	hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878	.	.	ENSP00000005340	.	10/15	.	.	.	.	.	.	.	.	rs781418768	10/15	PASS	ENST00000005340	Transcript	.	.	ENSG00000004975	3086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.821)	.	deleterious(0)	.	DVL2_HUMAN	DVL2	HGNC	B4E2D6_HUMAN	.	UPI0000000DE9	SNV	DVL2,missense_variant,p.Arg361Leu,ENST00000575458,;DVL2,missense_variant,p.Arg363Leu,ENST00000575756,;DVL2,missense_variant,p.Arg45Leu,ENST00000575086,;DVL2,missense_variant,p.Arg367Leu,ENST00000005340,;ACADVL,downstream_gene_variant,,ENST00000542255,;ACADVL,downstream_gene_variant,,ENST00000579546,;ACADVL,downstream_gene_variant,,ENST00000356839,;ACADVL,downstream_gene_variant,,ENST00000543245,;ACADVL,downstream_gene_variant,,ENST00000350303,;DVL2,downstream_gene_variant,,ENST00000574143,;MIR324,upstream_gene_variant,,ENST00000362183,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;DVL2,splice_region_variant,,ENST00000576840,;DVL2,splice_region_variant,,ENST00000576285,;DVL2,non_coding_transcript_exon_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000322910,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582379,;DVL2,downstream_gene_variant,,ENST00000576949,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,downstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000585203,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000576439,;DVL2,upstream_gene_variant,,ENST00000571745,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000578809,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000582450,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000583858,;ACADVL,downstream_gene_variant,,ENST00000583850,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000578579,;	1383	171	89	SUCCESS
SLC26A11	284129	.	GRCh37	17	78220002	78220002	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1304103622	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	48	0	ENST00000361193.3:c.1147G>A	p.Val383Met	p.V383M	ENST00000361193	NM_001166347.1	383	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS11771.2	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGGTGACG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF55,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000355384	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000361193	Transcript	.	.	ENSG00000181045	14471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious(0.04)	.	S2611_HUMAN	SLC26A11	HGNC	Q96BU7_HUMAN,I3L3K8_HUMAN,I3L2J9_HUMAN,I3L1H1_HUMAN,I3L124_HUMAN	.	UPI000003E7B7	SNV	SLC26A11,missense_variant,p.Val383Met,ENST00000361193,;SLC26A11,missense_variant,p.Val383Met,ENST00000572725,;SLC26A11,missense_variant,p.Val383Met,ENST00000546047,;SLC26A11,missense_variant,p.Val383Met,ENST00000411502,;SLC26A11,upstream_gene_variant,,ENST00000575019,;SLC26A11,downstream_gene_variant,,ENST00000571215,;SLC26A11,downstream_gene_variant,,ENST00000571888,;	1427	48	61	SUCCESS
CNTROB	116840	.	GRCh37	17	7851271	7851278	+	frameshift_variant	Frame_Shift_Del	DEL	CTGTCGAC	CTGTCGAC	-	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	CTGTCGAC	CTGTCGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	85	0	ENST00000563694.1:c.2187_2194del	p.Asp730AlafsTer3	p.D730Afs*3	ENST00000563694	NM_053051.3	728	tCTGTCGAC/t	0	.	.	.	.	.	-	SVD/X	protein_coding	YES	CCDS32557.1	2183-2190	VARSCANI*|PINDEL	.	ACCCTTCTGTCGACCTGTT	NONE	.	.	.	.	.	ENSP00000369614	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000380262	Transcript	.	.	ENSG00000170037	29616	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTRB_HUMAN	CNTROB	HGNC	I3L465_HUMAN,I3L1Z8_HUMAN,I3L1B0_HUMAN	.	UPI00005DB2E1	deletion	CNTROB,frameshift_variant,p.Asp730AlafsTer3,ENST00000380262,;CNTROB,frameshift_variant,p.Asp48AlafsTer3,ENST00000576536,;CNTROB,frameshift_variant,p.Asp730AlafsTer3,ENST00000563694,;CNTROB,frameshift_variant,p.Asp730AlafsTer3,ENST00000565740,;CNTROB,3_prime_UTR_variant,,ENST00000380255,;CNTROB,3_prime_UTR_variant,,ENST00000571632,;CNTROB,non_coding_transcript_exon_variant,,ENST00000576723,;CNTROB,downstream_gene_variant,,ENST00000576922,;CNTROB,downstream_gene_variant,,ENST00000573862,;CNTROB,downstream_gene_variant,,ENST00000574430,;	3108-3115	85	39	SUCCESS
DCC	1630	.	GRCh37	18	50731690	50731690	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	112	1	ENST00000442544.2:c.1678G>A	p.Gly560Ser	p.G560S	ENST00000442544	NM_005215.3	560	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11952.1	1678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGGTTAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	10/29	.	.	.	.	.	.	.	.	COSM4140108,COSM4140109	10/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.019)	.	tolerated(0.64)	1,1	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Gly215Ser,ENST00000581580,;DCC,missense_variant,p.Gly560Ser,ENST00000442544,;DCC,missense_variant,p.Gly408Ser,ENST00000412726,;DCC,missense_variant,p.Gly494Ser,ENST00000304775,;	2294	113	113	SUCCESS
ST8SIA3	51046	.	GRCh37	18	55024675	55024675	+	synonymous_variant	Silent	SNP	G	G	A	rs759636986	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	17	0	ENST00000324000.3:c.834G>A	p.Pro278=	p.P278=	ENST00000324000	NM_015879.2	278	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32834.1	834	SOMATICSNIPER|MUSE	.	TGGCCGGGAAA	BUFFER|p.G279E|c.836G>A|3	byFrequency	.	hmmpanther:PTHR11987:SF33,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	.	.	ENSP00000320431	.	3/4	.	.	.	.	.	.	.	.	rs759636986	3/4	PASS	ENST00000324000	Transcript	.	.	ENSG00000177511	14269	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIA8C_HUMAN	ST8SIA3	HGNC	Q59GW3_HUMAN	.	UPI000014126D	SNV	ST8SIA3,synonymous_variant,p.%3D,ENST00000324000,;ST8SIA3,synonymous_variant,p.%3D,ENST00000586360,;	2868	17	14	SUCCESS
CCBE1	147372	.	GRCh37	18	57136703	57136703	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	7	164	1	ENST00000439986.4:c.400+2T>A		p.X134_splice	ENST00000439986	NM_133459.3	134		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32838.1	.	MUTECT|MUSE	.	AACACACCCAG	NONE	.	.	.	.	.	ENSP00000404464	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439986	Transcript	.	.	ENSG00000183287	29426	.	.	HIGH	4/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCBE1_HUMAN	CCBE1	HGNC	K7EQ81_HUMAN	.	UPI000004C616	SNV	CCBE1,splice_donor_variant,,ENST00000589419,;CCBE1,splice_donor_variant,,ENST00000398179,;CCBE1,splice_donor_variant,,ENST00000439986,;RP11-27G24.3,downstream_gene_variant,,ENST00000589242,;	.	165	165	SUCCESS
NDUFV2	4729	.	GRCh37	18	9102767	9102767	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs890369537	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	17	0	ENST00000318388.6:c.26C>T	p.Ala9Val	p.A9V	ENST00000318388	NM_021074.4	9	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11842.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCCCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10371,hmmpanther:PTHR10371:SF3	.	.	ENSP00000327268	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000318388	Transcript	.	.	ENSG00000178127	7717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.26)	.	NDUV2_HUMAN	NDUFV2	HGNC	.	.	UPI0000052A59	SNV	NDUFV2,missense_variant,p.Ala9Val,ENST00000318388,;NDUFV2,missense_variant,p.Ala9Val,ENST00000497577,;NDUFV2,upstream_gene_variant,,ENST00000400033,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000578850,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;NDUFV2,upstream_gene_variant,,ENST00000583375,;NDUFV2,missense_variant,p.Ala9Val,ENST00000577703,;	140	17	31	SUCCESS
DNMT1	1786	.	GRCh37	19	10248624	10248624	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	53	128	1	ENST00000340748.4:c.4129G>A	p.Val1377Met	p.V1377M	ENST00000340748		1377	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45958.1	4177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCACCTCCG	NONE	.	.	PROSITE_profiles:PS51679,hmmpanther:PTHR10629:SF11,hmmpanther:PTHR10629,Pfam_domain:PF00145,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037404,Superfamily_domains:SSF53335	.	.	ENSP00000352516	.	36/41	.	.	.	.	.	.	.	.	.	36/41	PASS	ENST00000359526	Transcript	1	.	ENSG00000130816	2976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.546)	.	deleterious(0)	.	DNMT1_HUMAN	DNMT1	HGNC	K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN	.	UPI000002A823	SNV	DNMT1,missense_variant,p.Val1377Met,ENST00000340748,;DNMT1,missense_variant,p.Val1377Met,ENST00000540357,;DNMT1,missense_variant,p.Val1393Met,ENST00000359526,;DNMT1,downstream_gene_variant,,ENST00000593049,;DNMT1,downstream_gene_variant,,ENST00000589538,;DNMT1,upstream_gene_variant,,ENST00000591798,;DNMT1,missense_variant,p.Val153Met,ENST00000588913,;DNMT1,3_prime_UTR_variant,,ENST00000592705,;DNMT1,non_coding_transcript_exon_variant,,ENST00000589294,;DNMT1,non_coding_transcript_exon_variant,,ENST00000587197,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586588,;DNMT1,downstream_gene_variant,,ENST00000587604,;DNMT1,downstream_gene_variant,,ENST00000589091,;DNMT1,downstream_gene_variant,,ENST00000589351,;DNMT1,downstream_gene_variant,,ENST00000591239,;	4357	129	145	SUCCESS
OR10H4	126541	.	GRCh37	19	16060284	16060284	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	7	207	0	ENST00000322107.1:c.467T>C	p.Met156Thr	p.M156T	ENST00000322107	NM_001004465.1	156	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS32941.1	467	MUTECT|MUSE	.	AGTCATGGGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF78,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000318834	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322107	Transcript	.	.	ENSG00000176231	15388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.057)	.	tolerated(0.16)	.	O10H4_HUMAN	OR10H4	HGNC	.	.	UPI0000046194	SNV	OR10H4,missense_variant,p.Met156Thr,ENST00000322107,;	467	207	209	SUCCESS
CILP2	148113	.	GRCh37	19	19654087	19654087	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	58	207	0	ENST00000291495.5:c.1008A>G	p.Arg336=	p.R336=	ENST00000291495	NM_153221.2	336	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS12405.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGAGCTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000291495	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,synonymous_variant,p.%3D,ENST00000291495,;CILP2,synonymous_variant,p.%3D,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1093	207	216	SUCCESS
TMPRSS9	360200	.	GRCh37	19	2413898	2413898	+	synonymous_variant	Silent	SNP	C	C	A	rs369352581	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	80	2	ENST00000332578.3:c.1353C>A	p.Ala451=	p.A451=	ENST00000332578	NM_182973.1	451	gcC/gcA	0	T:0	.	.	.	.	A	A	protein_coding	YES	CCDS12088.1	1353	SOMATICSNIPER|VARSCANS	.	CCTGCCGCCCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF108,PIRSF_domain:PIRSF037931	.	T:0.0002	ENSP00000330264	.	9/17	.	.	.	.	.	.	.	.	rs369352581	9/17	PASS	ENST00000332578	Transcript	.	.	ENSG00000178297	30079	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMPS9_HUMAN	TMPRSS9	HGNC	.	.	UPI00001B4EC6	SNV	TMPRSS9,synonymous_variant,p.%3D,ENST00000332578,;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;TMPRSS9,upstream_gene_variant,,ENST00000587863,;	1353	82	97	SUCCESS
FZR1	51343	.	GRCh37	19	3522996	3522996	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	56	141	0	ENST00000395095.3:c.9G>A	p.Gln3=	p.Q3=	ENST00000395095	NM_001136198.1	3	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS45916.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGGACTA	NONE	.	.	hmmpanther:PTHR19918:SF6,hmmpanther:PTHR19918	.	.	ENSP00000378529	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,synonymous_variant,p.%3D,ENST00000313639,;FZR1,synonymous_variant,p.%3D,ENST00000395095,;FZR1,synonymous_variant,p.%3D,ENST00000441788,;SNORD38,upstream_gene_variant,,ENST00000516599,;FZR1,synonymous_variant,p.%3D,ENST00000591290,;FZR1,non_coding_transcript_exon_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000592214,;	9	141	173	SUCCESS
SCN1B	6324	.	GRCh37	19	35523452	35523452	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	78	0	ENST00000262631.5:c.61T>A	p.Cys21Ser	p.C21S	ENST00000262631	NM_001037.4	21	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS46047.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGCGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10546	.	.	ENSP00000396915	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000415950	Transcript	1	.	ENSG00000105711	10586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	SCN1B_HUMAN	SCN1B	HGNC	.	.	UPI00000473F0	SNV	SCN1B,missense_variant,p.Cys21Ser,ENST00000595652,;SCN1B,missense_variant,p.Cys21Ser,ENST00000415950,;SCN1B,missense_variant,p.Cys21Ser,ENST00000262631,;CTD-2527I21.9,upstream_gene_variant,,ENST00000601692,;SCN1B,non_coding_transcript_exon_variant,,ENST00000596348,;SCN1B,upstream_gene_variant,,ENST00000602150,;	61	78	72	SUCCESS
YIF1B	90522	.	GRCh37	19	38796134	38796134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	82	252	1	ENST00000339413.6:c.803G>A	p.Arg268Gln	p.R268Q	ENST00000339413	NM_001039673.2	268	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33010.1	803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCCGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14083,hmmpanther:PTHR14083:SF1,Pfam_domain:PF03878	.	.	ENSP00000343435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000339413	Transcript	.	.	ENSG00000167645	30511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	deleterious(0.01)	.	YIF1B_HUMAN	YIF1B	HGNC	K7EJQ6_HUMAN	.	UPI00005AB2F2	SNV	YIF1B,missense_variant,p.Arg202Gln,ENST00000592246,;YIF1B,missense_variant,p.Gly291Ser,ENST00000337679,;YIF1B,missense_variant,p.Arg237Gln,ENST00000592694,;YIF1B,missense_variant,p.Arg253Gln,ENST00000329420,;YIF1B,missense_variant,p.Arg268Gln,ENST00000339413,;YIF1B,missense_variant,p.Arg237Gln,ENST00000591784,;YIF1B,missense_variant,p.Arg237Gln,ENST00000392124,;C19orf33,downstream_gene_variant,,ENST00000588605,;C19orf33,downstream_gene_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589151,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;C19orf33,downstream_gene_variant,,ENST00000591852,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;C19orf33,downstream_gene_variant,,ENST00000589986,;	849	253	226	SUCCESS
RYR1	6261	.	GRCh37	19	38964295	38964295	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	66	1	ENST00000359596.3:c.4044A>G	p.Lys1348=	p.K1348=	ENST00000359596		1348	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS33011.1	4044	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAAGAAGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	28/106	.	.	.	.	.	.	.	.	.	28/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;	4044	67	79	SUCCESS
EHD2	30846	.	GRCh37	19	48244419	48244419	+	synonymous_variant	Silent	SNP	C	C	T	rs138874482	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	88	0	ENST00000263277.3:c.1362C>T	p.Asp454=	p.D454=	ENST00000263277	NM_014601.3	454	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS12704.1	1362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGACGAGAT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50031,hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00027,Superfamily_domains:SSF47473	T:0.004	.	ENSP00000263277	T:0	6/6	.	.	.	.	.	.	.	.	rs138874482	6/6	PASS	ENST00000263277	Transcript	.	T:0.0008	ENSG00000024422	3243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	EHD2_HUMAN	EHD2	HGNC	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN	.	UPI0000071B66	SNV	EHD2,synonymous_variant,p.%3D,ENST00000263277,;EHD2,synonymous_variant,p.%3D,ENST00000538399,;GLTSCR2,upstream_gene_variant,,ENST00000246802,;EHD2,non_coding_transcript_exon_variant,,ENST00000540884,;GLTSCR2,upstream_gene_variant,,ENST00000598681,;GLTSCR2,upstream_gene_variant,,ENST00000599582,;GLTSCR2,upstream_gene_variant,,ENST00000599253,;GLTSCR2,upstream_gene_variant,,ENST00000594525,;EHD2,downstream_gene_variant,,ENST00000596225,;GLTSCR2,upstream_gene_variant,,ENST00000600410,;	1613	88	97	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48565344	48565344	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1250422484	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	147	0	ENST00000599921.1:c.1168A>G	p.Ile390Val	p.I390V	ENST00000599921		390	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS59403.1	1198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGATGGCTA	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF28,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000472546	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	deleterious(0.02)	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,missense_variant,p.Ile390Val,ENST00000599921,;PLA2G4C,missense_variant,p.Ile390Val,ENST00000413144,;PLA2G4C,missense_variant,p.Ile400Val,ENST00000599111,;PLA2G4C,missense_variant,p.Ile390Val,ENST00000354276,;PLA2G4C,missense_variant,p.Ile142Val,ENST00000599300,;PLA2G4C,missense_variant,p.Ile79Val,ENST00000595161,;PLA2G4C,downstream_gene_variant,,ENST00000601946,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000601548,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000601950,;CTD-2265M8.2,intron_variant,,ENST00000596552,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599239,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596353,;	1500	147	135	SUCCESS
SHANK1	50944	.	GRCh37	19	51171701	51171701	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	16	0	ENST00000293441.1:c.3516C>T	p.Ser1172=	p.S1172=	ENST00000293441	NM_016148.2	1172	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12799.1	3516	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCCTGGCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	COSM3797412,COSM3797413	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	LOW	.	PRIMARY	.	.	.	.	4	1,1	.	.	.	.	.	1,1	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,synonymous_variant,p.%3D,ENST00000391814,;SHANK1,synonymous_variant,p.%3D,ENST00000391813,;SHANK1,synonymous_variant,p.%3D,ENST00000359082,;SHANK1,synonymous_variant,p.%3D,ENST00000293441,;SYT3,upstream_gene_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000468654,;	3535	16	18	SUCCESS
SIGLEC10	89790	.	GRCh37	19	51920190	51920190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	41	198	1	ENST00000339313.5:c.436C>T	p.Pro146Ser	p.P146S	ENST00000339313		146	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12832.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGCTTCT	BUFFER|p.Q144K|c.430C>A|4	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000348646	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000356298	Transcript	.	.	ENSG00000142512	15620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	SIG10_HUMAN	SIGLEC10	HGNC	.	.	UPI0000047E1A	SNV	SIGLEC10,splice_donor_variant,,ENST00000432469,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000525998,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000339313,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000353836,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000356298,;SIGLEC10,missense_variant,p.Pro113Ser,ENST00000530476,;SIGLEC10,intron_variant,,ENST00000436984,;SIGLEC10,intron_variant,,ENST00000442846,;SIGLEC10,intron_variant,,ENST00000441969,;SIGLEC10,intron_variant,,ENST00000439889,;SIGLEC10,intron_variant,,ENST00000529627,;CTD-2616J11.2,intron_variant,,ENST00000532688,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;CTD-2616J11.2,downstream_gene_variant,,ENST00000526996,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000524527,;	553	199	162	SUCCESS
ZNF480	147657	.	GRCh37	19	52817496	52817496	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	63	0	ENST00000468240.2:c.163G>T	p.Val55Leu	p.V55L	ENST00000468240		55	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS12850.2	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGTGATG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF12,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000471754	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000595962	Transcript	.	.	ENSG00000198464	23305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ZN480_HUMAN	ZNF480	HGNC	.	.	UPI0000202AEF	SNV	ZNF480,missense_variant,p.Val55Leu,ENST00000334564,;ZNF480,missense_variant,p.Val55Leu,ENST00000598016,;ZNF480,missense_variant,p.Val55Leu,ENST00000595962,;ZNF480,intron_variant,,ENST00000335090,;ZNF480,intron_variant,,ENST00000490272,;CTD-2525I3.6,intron_variant,,ENST00000594379,;ZNF480,missense_variant,p.Val55Leu,ENST00000468240,;	229	63	60	SUCCESS
ZNF558	148156	.	GRCh37	19	8932718	8932718	+	synonymous_variant	Silent	SNP	G	G	A	rs762746194	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	70	196	1	ENST00000301475.1:c.81C>T	p.Gly27=	p.G27=	ENST00000301475	NM_144693.1	27	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12208.1	81	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGCCCTG	SITE|p.G27G|c.81C>T|3	byFrequency	.	.	.	.	ENSP00000471277	.	6/10	.	.	.	.	.	.	.	.	rs762746194,COSM1003631	6/10	PASS	ENST00000601372	Transcript	.	.	ENSG00000167785	26422	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZN558_HUMAN	ZNF558	HGNC	B7Z798_HUMAN	.	UPI000006D81E	SNV	ZNF558,synonymous_variant,p.%3D,ENST00000301475,;ZNF558,synonymous_variant,p.%3D,ENST00000601372,;ZNF558,upstream_gene_variant,,ENST00000444186,;CTD-2529P6.3,intron_variant,,ENST00000594006,;ZNF558,downstream_gene_variant,,ENST00000596172,;ZNF558,downstream_gene_variant,,ENST00000599938,;ZNF558,downstream_gene_variant,,ENST00000595786,;ZNF558,non_coding_transcript_exon_variant,,ENST00000597304,;	793	197	171	SUCCESS
TNFRSF8	943	.	GRCh37	1	12175637	12175637	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	95	0	ENST00000263932.2:c.797A>C	p.Asp266Ala	p.D266A	ENST00000263932	NM_001243.3	266	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS144.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGACCTTG	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF85,PROSITE_patterns:PS00652,Pfam_domain:PF00020,Gene3D:2.10.50.10,SMART_domains:SM00208	.	.	ENSP00000263932	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000263932	Transcript	.	.	ENSG00000120949	11923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	.	TNFRSF8	HGNC	A5D8T4_HUMAN	.	UPI000013D48C	SNV	TNFRSF8,missense_variant,p.Asp155Ala,ENST00000417814,;TNFRSF8,missense_variant,p.Asp266Ala,ENST00000263932,;TNFRSF8,3_prime_UTR_variant,,ENST00000514649,;	1019	95	99	SUCCESS
CTSK	1513	.	GRCh37	1	150778408	150778408	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	191	0	ENST00000271651.3:c.328G>T	p.Glu110Ter	p.E110*	ENST00000271651	NM_000396.3	110	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS969.1	328	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTGGGA	NONE	.	.	hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF55,Gene3D:3.90.70.10,Superfamily_domains:SSF54001	.	.	ENSP00000271651	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000271651	Transcript	.	.	ENSG00000143387	2536	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATK_HUMAN	CTSK	HGNC	.	.	UPI0000000DFB	SNV	CTSK,stop_gained,p.Glu110Ter,ENST00000271651,;CTSK,stop_gained,p.Glu169Ter,ENST00000443913,;ARNT,downstream_gene_variant,,ENST00000358595,;ARNT,downstream_gene_variant,,ENST00000354396,;CTSK,non_coding_transcript_exon_variant,,ENST00000480670,;ARNT,downstream_gene_variant,,ENST00000471844,;UBE2D3P3,downstream_gene_variant,,ENST00000426992,;	439	191	125	SUCCESS
CHRNB2	1141	.	GRCh37	1	154543798	154543798	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	14	251	0	ENST00000368476.3:c.499C>A	p.Gln167Lys	p.Q167K	ENST00000368476	NM_000748.2	167	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1070.1	499	MUTECT|MUSE	.	ACCAGCAGAAC	NONE	.	.	hmmpanther:PTHR18945:SF80,hmmpanther:PTHR18945,PROSITE_patterns:PS00236,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000357461	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368476	Transcript	.	.	ENSG00000160716	1962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ACHB2_HUMAN	CHRNB2	HGNC	Q5SXY3_HUMAN	.	UPI000012526E	SNV	CHRNB2,missense_variant,p.Gln167Lys,ENST00000368476,;	763	251	257	SUCCESS
RUSC1	23623	.	GRCh37	1	155295430	155295430	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	33	100	0	ENST00000368352.5:c.1781G>C	p.Ser594Thr	p.S594T	ENST00000368352	NM_001105203.1	594	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS41410.1	1781	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTAGCCGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50826,hmmpanther:PTHR15591,Pfam_domain:PF02759,Superfamily_domains:0052343	.	.	ENSP00000357336	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.18)	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,missense_variant,p.Ser594Thr,ENST00000368354,;RUSC1,missense_variant,p.Ser125Thr,ENST00000292254,;RUSC1,missense_variant,p.Ser594Thr,ENST00000368352,;RUSC1,missense_variant,p.Ser184Thr,ENST00000368347,;RUSC1,missense_variant,p.Ser125Thr,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000356657,;FDPS,downstream_gene_variant,,ENST00000447866,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,upstream_gene_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000443642,;RUSC1-AS1,upstream_gene_variant,,ENST00000543656,;RUSC1-AS1,upstream_gene_variant,,ENST00000446880,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,non_coding_transcript_exon_variant,,ENST00000497930,;RUSC1,non_coding_transcript_exon_variant,,ENST00000485924,;RUSC1,non_coding_transcript_exon_variant,,ENST00000471876,;RUSC1,non_coding_transcript_exon_variant,,ENST00000479924,;RUSC1,non_coding_transcript_exon_variant,,ENST00000467820,;RUSC1,non_coding_transcript_exon_variant,,ENST00000490373,;RUSC1,non_coding_transcript_exon_variant,,ENST00000489860,;RUSC1,non_coding_transcript_exon_variant,,ENST00000473331,;RUSC1,non_coding_transcript_exon_variant,,ENST00000492536,;RUSC1,non_coding_transcript_exon_variant,,ENST00000468764,;RUSC1,non_coding_transcript_exon_variant,,ENST00000484664,;FDPS,downstream_gene_variant,,ENST00000490140,;FDPS,downstream_gene_variant,,ENST00000492244,;	1932	100	107	SUCCESS
CACNA1E	777	.	GRCh37	1	181452992	181452992	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	69	181	0	ENST00000367573.2:c.112G>T	p.Ala38Ser	p.A38S	ENST00000367573	NM_001205293.1	38	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS55664.1	112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCCTAC	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	1/48	.	.	.	.	.	.	.	.	COSM1336816,COSM1336815	1/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.515)	.	tolerated(0.61)	1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ala38Ser,ENST00000360108,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000524607,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000526775,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000367570,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,5_prime_UTR_variant,,ENST00000358338,;CACNA1E,5_prime_UTR_variant,,ENST00000357570,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	112	181	175	SUCCESS
TRAF5	7188	.	GRCh37	1	211545809	211545809	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759328690	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	72	0	ENST00000261464.5:c.1439A>G	p.Gln480Arg	p.Q480R	ENST00000261464	NM_001033910.2	480	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS1497.1	1439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCAGAGGG	NONE	.	.	PROSITE_profiles:PS50144,hmmpanther:PTHR10131:SF66,hmmpanther:PTHR10131,Pfam_domain:PF00917,Gene3D:2.60.210.10,SMART_domains:SM00061,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF49599	.	.	ENSP00000261464	.	11/11	.	.	.	.	.	.	.	.	rs759328690	11/11	PASS	ENST00000261464	Transcript	.	.	ENSG00000082512	12035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TRAF5_HUMAN	TRAF5	HGNC	D3DT93_HUMAN,B4E0A2_HUMAN,B3KX26_HUMAN	.	UPI0000070955	SNV	TRAF5,missense_variant,p.Gln480Arg,ENST00000367004,;TRAF5,missense_variant,p.Gln480Arg,ENST00000261464,;TRAF5,missense_variant,p.Gln374Arg,ENST00000427925,;TRAF5,missense_variant,p.Gln480Arg,ENST00000336184,;TRAF5,non_coding_transcript_exon_variant,,ENST00000473385,;	1493	72	77	SUCCESS
EPRS	0	.	GRCh37	1	220193425	220193425	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	128	0	ENST00000366923.3:c.1254A>G	p.Pro418=	p.P418=	ENST00000366923	NM_004446.2	418	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS31027.1	1254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATGGTTT	NONE	.	.	Superfamily_domains:SSF52374,Pfam_domain:PF00749,TIGRFAM_domain:TIGR00463,Gene3D:3.40.50.620,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119	.	.	ENSP00000355890	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,synonymous_variant,p.%3D,ENST00000366923,;EPRS,synonymous_variant,p.%3D,ENST00000609181,;EPRS,intron_variant,,ENST00000477030,;	1524	128	93	SUCCESS
EIF3I	8668	.	GRCh37	1	32687989	32687989	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1569849821	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	46	168	1	ENST00000373586.1:c.-54C>T		p.*18*	ENST00000373586	NM_003757.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS357.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTCGAAAC	NONE	.	.	.	.	.	ENSP00000362688	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000373586	Transcript	.	.	ENSG00000084623	3272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF3I_HUMAN	EIF3I	HGNC	Q9P1D9_HUMAN,Q5U0F4_HUMAN,Q5TFK1_HUMAN	.	UPI000012D2FB	SNV	EIF3I,5_prime_UTR_variant,,ENST00000373586,;EIF3I,5_prime_UTR_variant,,ENST00000355082,;TMEM234,upstream_gene_variant,,ENST00000309777,;TMEM234,upstream_gene_variant,,ENST00000545122,;TMEM234,upstream_gene_variant,,ENST00000344461,;TMEM234,upstream_gene_variant,,ENST00000373593,;EIF3I,upstream_gene_variant,,ENST00000489353,;EIF3I,upstream_gene_variant,,ENST00000471486,;TMEM234,upstream_gene_variant,,ENST00000485689,;EIF3I,upstream_gene_variant,,ENST00000474371,;EIF3I,upstream_gene_variant,,ENST00000483517,;TMEM234,upstream_gene_variant,,ENST00000484490,;TMEM234,upstream_gene_variant,,ENST00000483001,;TMEM234,upstream_gene_variant,,ENST00000491434,;TMEM234,upstream_gene_variant,,ENST00000487174,;TMEM234,upstream_gene_variant,,ENST00000489170,;TMEM234,upstream_gene_variant,,ENST00000461402,;TMEM234,upstream_gene_variant,,ENST00000466796,;	19	169	146	SUCCESS
LRP8	7804	.	GRCh37	1	53727742	53727742	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	68	187	0	ENST00000306052.6:c.1912G>C	p.Glu638Gln	p.E638Q	ENST00000306052	NM_004631.4	638	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS578.1	1912	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCAAACA	NONE	.	.	Superfamily_domains:SSF63825,SMART_domains:SM00135,Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF99,PROSITE_profiles:PS51120	.	.	ENSP00000303634	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,missense_variant,p.Glu191Gln,ENST00000465675,;LRP8,missense_variant,p.Glu638Gln,ENST00000371454,;LRP8,missense_variant,p.Glu509Gln,ENST00000354412,;LRP8,missense_variant,p.Glu638Gln,ENST00000306052,;LRP8,missense_variant,p.Glu468Gln,ENST00000347547,;LRP8,downstream_gene_variant,,ENST00000475501,;LRP8,splice_region_variant,,ENST00000460214,;LRP8,splice_region_variant,,ENST00000480045,;LRP8,splice_region_variant,,ENST00000481431,;LRP8,splice_region_variant,,ENST00000459674,;LRP8,upstream_gene_variant,,ENST00000529670,;	2014	187	192	SUCCESS
IL12RB2	3595	.	GRCh37	1	67833556	67833556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	125	0	ENST00000262345.1:c.1307A>G	p.Asn436Ser	p.N436S	ENST00000262345	NM_001559.2	436	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS638.1	1307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAACATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,PROSITE_patterns:PS01353,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000262345	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.92)	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,missense_variant,p.Asn436Ser,ENST00000541374,;IL12RB2,missense_variant,p.Asn436Ser,ENST00000544434,;IL12RB2,missense_variant,p.Asn436Ser,ENST00000262345,;IL12RB2,missense_variant,p.Asn436Ser,ENST00000371000,;	1947	125	141	SUCCESS
BPIFA3	128861	.	GRCh37	20	31814775	31814775	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	121	0	ENST00000375454.3:c.661G>A	p.Val221Met	p.V221M	ENST00000375454	NM_178466.3	221	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13216.2	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGTGAAA	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF3,Superfamily_domains:SSF55394	.	.	ENSP00000364603	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000375454	Transcript	.	.	ENSG00000131059	16204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BPIA3_HUMAN	BPIFA3	HGNC	.	.	UPI00003E72D6	SNV	BPIFA3,missense_variant,p.Val221Met,ENST00000375454,;BPIFA3,missense_variant,p.Val185Met,ENST00000375452,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;	871	121	93	SUCCESS
EPB41L1	2036	.	GRCh37	20	34773213	34773213	+	synonymous_variant	Silent	SNP	C	C	T	rs753437652	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	83	0	ENST00000338074.2:c.741C>T	p.Thr247=	p.T247=	ENST00000338074	NM_012156.2	247	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13271.1	741	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCCGGGA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF7,Pfam_domain:PF00373,Gene3D:1.20.80.10,PIRSF_domain:PIRSF002304,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000337168	.	7/22	.	.	.	.	.	.	.	.	rs753437652	7/22	PASS	ENST00000338074	Transcript	1	.	ENSG00000088367	3378	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E41L1_HUMAN	EPB41L1	HGNC	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN	.	UPI0000129AF8	SNV	EPB41L1,synonymous_variant,p.%3D,ENST00000338074,;EPB41L1,synonymous_variant,p.%3D,ENST00000373950,;EPB41L1,synonymous_variant,p.%3D,ENST00000373941,;EPB41L1,synonymous_variant,p.%3D,ENST00000202028,;EPB41L1,synonymous_variant,p.%3D,ENST00000373945,;EPB41L1,synonymous_variant,p.%3D,ENST00000430276,;EPB41L1,synonymous_variant,p.%3D,ENST00000373946,;EPB41L1,synonymous_variant,p.%3D,ENST00000441639,;EPB41L1,downstream_gene_variant,,ENST00000452261,;EPB41L1,downstream_gene_variant,,ENST00000406771,;	902	83	77	SUCCESS
ZSWIM1	90204	.	GRCh37	20	44511883	44511883	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	74	0	ENST00000372520.1:c.652A>C	p.Ser218Arg	p.S218R	ENST00000372520		218	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS13382.2	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAGCAAC	NONE	.	.	hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0	.	.	ENSP00000361601	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372523	Transcript	.	.	ENSG00000168612	16155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.85)	.	ZSWM1_HUMAN	ZSWIM1	HGNC	A8K5I9_HUMAN	.	UPI0000470896	SNV	ZSWIM1,missense_variant,p.Ser218Arg,ENST00000372520,;ZSWIM1,missense_variant,p.Ser218Arg,ENST00000372523,;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,;ZSWIM3,downstream_gene_variant,,ENST00000255152,;	747	74	68	SUCCESS
RFPL2	10739	.	GRCh37	22	32589248	32589248	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	93	200	0	ENST00000248983.4:c.-5-69C>T		p.*2*	ENST00000248983	NM_001159545.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43009.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTGACAAC	NONE	.	.	.	.	.	ENSP00000383096	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400237	Transcript	.	.	ENSG00000128253	9979	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFPL2_HUMAN	RFPL2	HGNC	.	.	UPI000013CC66	SNV	RFPL2,missense_variant,p.Ser5Leu,ENST00000248980,;RFPL2,intron_variant,,ENST00000400237,;RFPL2,intron_variant,,ENST00000248983,;RFPL2,intron_variant,,ENST00000400236,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	.	200	192	SUCCESS
MGAT3	4248	.	GRCh37	22	39884425	39884425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	77	1	ENST00000341184.6:c.1073C>T	p.Thr358Ile	p.T358I	ENST00000341184	NM_002409.4	358	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS13994.2	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACCCTGG	NONE	.	.	hmmpanther:PTHR12224,hmmpanther:PTHR12224:SF0,Pfam_domain:PF04724	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	deleterious(0.03)	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,missense_variant,p.Thr358Ile,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	1288	78	97	SUCCESS
NCKAP5	344148	.	GRCh37	2	133489528	133489528	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	66	216	0	ENST00000409261.1:c.5225C>A	p.Pro1742Gln	p.P1742Q	ENST00000409261	NM_207363.2	1742	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS46418.1	5225	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTGGCTGG	NONE	.	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740,Pfam_domain:PF15246	.	.	ENSP00000387128	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.61)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Pro423Gln,ENST00000409213,;NCKAP5,missense_variant,p.Pro1742Gln,ENST00000409261,;NCKAP5,missense_variant,p.Pro423Gln,ENST00000405974,;NCKAP5,missense_variant,p.Pro1742Gln,ENST00000317721,;NCKAP5,non_coding_transcript_exon_variant,,ENST00000473859,;	5599	216	199	SUCCESS
PRPF40A	55660	.	GRCh37	2	153515808	153515808	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs371901743	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	158	1	ENST00000410080.1:c.2385T>G	p.His795Gln	p.H795Q	ENST00000410080	NM_017892.3	795	caT/caG	0	G:0.0003	.	.	.	.	C	H/Q	protein_coding	YES	CCDS46430.1	2385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTATGATG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864	.	G:0	ENSP00000386458	.	22/26	.	.	.	.	.	.	.	.	rs371901743	22/26	PASS	ENST00000410080	Transcript	.	.	ENSG00000196504	16463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	PR40A_HUMAN	PRPF40A	HGNC	Q4ZG51_HUMAN	.	UPI00015743D9	SNV	PRPF40A,missense_variant,p.His795Gln,ENST00000410080,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000471167,;PRPF40A,upstream_gene_variant,,ENST00000471701,;PRPF40A,downstream_gene_variant,,ENST00000472760,;	2927	159	131	SUCCESS
LRP2	4036	.	GRCh37	2	170055351	170055351	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	82	0	ENST00000263816.3:c.8523G>A	p.Leu2841=	p.L2841=	ENST00000263816	NM_004525.2	2841	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2232.1	8523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACAAATA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	45/79	.	.	.	.	.	.	.	.	.	45/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,synonymous_variant,p.%3D,ENST00000263816,;	8809	82	88	SUCCESS
MYO3B	140469	.	GRCh37	2	171260757	171260757	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	84	0	ENST00000408978.4:c.2278A>T	p.Met760Leu	p.M760L	ENST00000408978	NM_138995.4	760	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS42773.1	2278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATGGAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.16)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Met769Leu,ENST00000484338,;MYO3B,missense_variant,p.Met760Leu,ENST00000408978,;MYO3B,missense_variant,p.Met769Leu,ENST00000334231,;MYO3B,missense_variant,p.Met760Leu,ENST00000409044,;MYO3B,splice_region_variant,,ENST00000602629,;MYO3B,splice_region_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,missense_variant,p.Met760Leu,ENST00000317935,;MYO3B,splice_region_variant,,ENST00000409940,;	2421	84	75	SUCCESS
HNRNPA3	220988	.	GRCh37	2	178081416	178081416	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	29	133	0	ENST00000392524.2:c.656G>T	p.Gly219Val	p.G219V	ENST00000392524		219	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2273.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGGATCTG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24012:SF284,hmmpanther:PTHR24012	.	.	ENSP00000376309	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000392524	Transcript	.	.	ENSG00000170144	24941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	ROA3_HUMAN	HNRNPA3	HGNC	Q8NFG3_HUMAN	.	UPI00001BE8DE	SNV	HNRNPA3,missense_variant,p.Gly219Val,ENST00000435711,;HNRNPA3,missense_variant,p.Gly27Val,ENST00000432457,;HNRNPA3,missense_variant,p.Gly219Val,ENST00000392524,;HNRNPA3,missense_variant,p.Gly197Val,ENST00000411529,;MIR4444-2,downstream_gene_variant,,ENST00000581696,;AC079305.8,upstream_gene_variant,,ENST00000455416,;HNRNPA3,upstream_gene_variant,,ENST00000483137,;	893	133	102	SUCCESS
OSBPL6	114880	.	GRCh37	2	179201097	179201097	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1452795375	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	123	0	ENST00000190611.4:c.727A>G	p.Thr243Ala	p.T243A	ENST00000190611	NM_032523.3	243	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS56150.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACAACTGGC	NONE	.	.	hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972	.	.	ENSP00000376293	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000392505	Transcript	.	.	ENSG00000079156	16388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.55)	.	OSBL6_HUMAN	OSBPL6	HGNC	.	.	UPI0000E5A29F	SNV	OSBPL6,missense_variant,p.Thr243Ala,ENST00000409631,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000409045,;OSBPL6,missense_variant,p.Thr222Ala,ENST00000315022,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000359685,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000392505,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000190611,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000357080,;OSBPL6,downstream_gene_variant,,ENST00000477097,;	1271	123	102	SUCCESS
TTN	7273	.	GRCh37	2	179579150	179579150	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	57	0	ENST00000591111.1:c.25400G>A	p.Trp8467Ter	p.W8467*	ENST00000591111		8467	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS59435.1	26351	RADIA|MUTECT|MUSE	.	AAATCCATATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	91/363	.	.	.	.	.	.	.	.	COSM2706414,COSM2706415	91/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Trp7540Ter,ENST00000342992,;TTN,stop_gained,p.Trp8784Ter,ENST00000589042,;TTN,stop_gained,p.Trp8467Ter,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000592630,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589830,;	26576	57	65	SUCCESS
METTL21A	151194	.	GRCh37	2	208478154	208478154	+	synonymous_variant	Silent	SNP	A	A	T	rs776742075	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	25	0	ENST00000406927.2:c.273T>A	p.Thr91=	p.T91=	ENST00000406927		91	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2376.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATAGTCAC	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:3.40.50.150,Pfam_domain:PF10294,hmmpanther:PTHR14614,hmmpanther:PTHR14614:SF14	.	.	ENSP00000415115	.	4/4	.	.	.	.	.	.	.	.	rs776742075	4/4	PASS	ENST00000411432	Transcript	.	.	ENSG00000144401	30476	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT21A_HUMAN	METTL21A	HGNC	.	.	UPI000013D97D	SNV	METTL21A,synonymous_variant,p.%3D,ENST00000411432,;METTL21A,synonymous_variant,p.%3D,ENST00000442521,;METTL21A,synonymous_variant,p.%3D,ENST00000448007,;METTL21A,synonymous_variant,p.%3D,ENST00000406927,;METTL21A,synonymous_variant,p.%3D,ENST00000426075,;METTL21A,synonymous_variant,p.%3D,ENST00000272839,;METTL21A,3_prime_UTR_variant,,ENST00000448823,;METTL21A,intron_variant,,ENST00000425132,;METTL21A,intron_variant,,ENST00000432416,;METTL21A,intron_variant,,ENST00000458426,;METTL21A,downstream_gene_variant,,ENST00000461419,;METTL21A,upstream_gene_variant,,ENST00000477919,;	490	25	18	SUCCESS
TRPM8	79054	.	GRCh37	2	234894478	234894478	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	81	234	0	ENST00000324695.4:c.2908C>T	p.Leu970=	p.L970=	ENST00000324695	NM_024080.4	970	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33407.1	2908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9,Pfam_domain:PF00520	.	.	ENSP00000323926	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,synonymous_variant,p.%3D,ENST00000324695,;TRPM8,synonymous_variant,p.%3D,ENST00000456930,;TRPM8,synonymous_variant,p.%3D,ENST00000433712,;TRPM8,non_coding_transcript_exon_variant,,ENST00000475044,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,3_prime_UTR_variant,,ENST00000439148,;TRPM8,downstream_gene_variant,,ENST00000477103,;	2948	234	197	SUCCESS
WDR43	23160	.	GRCh37	2	29129433	29129433	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	88	0	ENST00000407426.3:c.471A>G	p.Thr157=	p.T157=	ENST00000407426	NM_015131.1	157	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS46251.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACATGCAA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF406,hmmpanther:PTHR22847,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000384302	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000407426	Transcript	.	.	ENSG00000163811	28945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR43_HUMAN	WDR43	HGNC	C9JH61_HUMAN,C9JEE7_HUMAN,C9IZK7_HUMAN	.	UPI00001C1DCD	SNV	WDR43,synonymous_variant,p.%3D,ENST00000440983,;WDR43,synonymous_variant,p.%3D,ENST00000407426,;WDR43,5_prime_UTR_variant,,ENST00000296126,;WDR43,downstream_gene_variant,,ENST00000434238,;	527	88	79	SUCCESS
PEX13	5194	.	GRCh37	2	61258823	61258823	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	32	89	0	ENST00000295030.5:c.362A>C	p.Gln121Pro	p.Q121P	ENST00000295030	NM_002618.3	121	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1866.1	362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCAAGCTG	NONE	.	.	hmmpanther:PTHR19332,Pfam_domain:PF04088	.	.	ENSP00000295030	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.05)	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,missense_variant,p.Gln121Pro,ENST00000295030,;PEX13,non_coding_transcript_exon_variant,,ENST00000472678,;	400	89	129	SUCCESS
USP34	9736	.	GRCh37	2	61441759	61441760	+	inframe_insertion	In_Frame_Ins	INS	-	-	GACCTTGTT	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	222	22	215	0	ENST00000398571.2:c.8109_8117dup	p.Thr2704_Ser2706dup	p.T2704_S2706dup	ENST00000398571	NM_014709.3	2704	tct/tcAACAAGGTCt	0	.	.	.	.	.	GACCTTGTT	S/STRS	protein_coding	YES	CCDS42686.1	8117-8118	INDELOCATOR|VARSCANI	.	TGCAAAGACCT	NONE	.	.	.	.	.	ENSP00000381577	.	68/80	.	.	.	.	.	.	.	.	.	68/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	insertion	USP34,inframe_insertion,p.Thr464_Ser466dup,ENST00000411912,;USP34,inframe_insertion,p.Thr2704_Ser2706dup,ENST00000398571,;USP34,splice_region_variant,,ENST00000467128,;USP34,non_coding_transcript_exon_variant,,ENST00000472706,;USP34,intron_variant,,ENST00000476716,;USP34,intron_variant,,ENST00000472689,;USP34,intron_variant,,ENST00000463046,;USP34,downstream_gene_variant,,ENST00000490527,;	8194-8195	215	244	SUCCESS
OTX1	5013	.	GRCh37	2	63283430	63283430	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	49	142	0	ENST00000282549.2:c.1044A>T	p.Ser348=	p.S348=	ENST00000282549	NM_014562.3	348	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1873.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCATGGCG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF310	.	.	ENSP00000282549	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000282549	Transcript	.	.	ENSG00000115507	8521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTX1_HUMAN	OTX1	HGNC	Q9P2R2_HUMAN,B4DM62_HUMAN	.	UPI0000130F36	SNV	OTX1,synonymous_variant,p.%3D,ENST00000282549,;OTX1,synonymous_variant,p.%3D,ENST00000366671,;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;OTX1,downstream_gene_variant,,ENST00000484066,;	1320	142	141	SUCCESS
MRPL53	116540	.	GRCh37	2	74699251	74699251	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749014275	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	9	125	0	ENST00000258105.7:c.334C>T	p.Arg112Cys	p.R112C	ENST00000258105	NM_053050.4	112	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS1944.1	334	MUTECT|MUSE	.	TCAGCGACCAG	NONE	byFrequency	.	.	.	.	ENSP00000258105	.	3/3	.	.	.	.	.	.	.	.	rs749014275	3/3	PASS	ENST00000258105	Transcript	.	.	ENSG00000204822	16684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	RM53_HUMAN	MRPL53	HGNC	.	.	UPI000006ED10	SNV	MRPL53,missense_variant,p.Arg112Cys,ENST00000258105,;MRPL53,3_prime_UTR_variant,,ENST00000409710,;CCDC142,downstream_gene_variant,,ENST00000393965,;CCDC142,downstream_gene_variant,,ENST00000290418,;CCDC142,3_prime_UTR_variant,,ENST00000454193,;MRPL53,non_coding_transcript_exon_variant,,ENST00000468875,;MRPL53,non_coding_transcript_exon_variant,,ENST00000467349,;CCDC142,downstream_gene_variant,,ENST00000497232,;CCDC142,downstream_gene_variant,,ENST00000473278,;CCDC142,downstream_gene_variant,,ENST00000486335,;	996	125	111	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111785275	111785275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	73	0	ENST00000452346.2:c.1592G>A	p.Arg531Lys	p.R531K	ENST00000452346		531	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS43129.2	1214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGGCAGC	NONE	.	.	hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000411645	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,missense_variant,p.Arg531Lys,ENST00000452346,;TMPRSS7,missense_variant,p.Arg405Lys,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	1296	73	72	SUCCESS
NR1I2	8856	.	GRCh37	3	119526207	119526207	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	44	150	0	ENST00000393716.2:c.110G>T	p.Gly37Val	p.G37V	ENST00000393716	NM_003889.3	37	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2995.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGGTCCCC	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39	.	.	ENSP00000336528	.	2/9	.	.	.	.	.	.	.	.	COSM4112575	2/9	PASS	ENST00000337940	Transcript	.	.	ENSG00000144852	7968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.34)	1	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,missense_variant,p.Gly76Val,ENST00000337940,;NR1I2,missense_variant,p.Gly37Val,ENST00000466380,;NR1I2,missense_variant,p.Gly37Val,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000474090,;NR1I2,upstream_gene_variant,,ENST00000493757,;	275	150	155	SUCCESS
CCDC174	51244	.	GRCh37	3	14708391	14708391	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	71	0	ENST00000383794.3:c.661G>A	p.Glu221Lys	p.E221K	ENST00000383794	NM_016474.4	221	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2620.2	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15885,Pfam_domain:PF13300	.	.	ENSP00000373304	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000383794	Transcript	.	.	ENSG00000154781	28033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.458)	.	deleterious(0)	.	CC174_HUMAN	CCDC174	HGNC	.	.	UPI00004120DD	SNV	CCDC174,missense_variant,p.Glu221Lys,ENST00000303688,;CCDC174,missense_variant,p.Glu221Lys,ENST00000383794,;CCDC174,upstream_gene_variant,,ENST00000476763,;CCDC174,non_coding_transcript_exon_variant,,ENST00000465759,;CCDC174,downstream_gene_variant,,ENST00000463438,;	734	71	50	SUCCESS
KCNMB3	27094	.	GRCh37	3	178968887	178968887	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	114	0	ENST00000314235.5:c.5A>G	p.Asp2Gly	p.D2G	ENST00000314235	NM_014407.3	2	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3226.1	5	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGTCCATC	NONE	.	.	.	.	.	ENSP00000319370	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000314235	Transcript	.	.	ENSG00000171121	6287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious_low_confidence(0)	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA98	SNV	KCNMB3,missense_variant,p.Asp2Gly,ENST00000314235,;KCNMB3,5_prime_UTR_variant,,ENST00000392685,;KCNMB3,intron_variant,,ENST00000349697,;KCNMB3,intron_variant,,ENST00000485523,;KCNMB3,intron_variant,,ENST00000497599,;KCNMB3,intron_variant,,ENST00000392686,;	517	114	92	SUCCESS
PEX5L	51555	.	GRCh37	3	179537706	179537706	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	53	171	0	ENST00000467460.1:c.881A>T	p.Asn294Ile	p.N294I	ENST00000467460	NM_001256751.1	294	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS3236.1	881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTTCCTC	NONE	.	.	hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130	.	.	ENSP00000419975	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000467460	Transcript	.	.	ENSG00000114757	30024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	PEX5R_HUMAN	PEX5L	HGNC	C9JZE2_HUMAN,C9IZ09_HUMAN	.	UPI0000049CE2	SNV	PEX5L,missense_variant,p.Asn186Ile,ENST00000392649,;PEX5L,missense_variant,p.Asn235Ile,ENST00000472994,;PEX5L,missense_variant,p.Asn186Ile,ENST00000464614,;PEX5L,missense_variant,p.Asn292Ile,ENST00000263962,;PEX5L,missense_variant,p.Asn251Ile,ENST00000476138,;PEX5L,missense_variant,p.Asn259Ile,ENST00000485199,;PEX5L,missense_variant,p.Asn102Ile,ENST00000468741,;PEX5L,missense_variant,p.Asn294Ile,ENST00000467460,;PEX5L,missense_variant,p.Asn270Ile,ENST00000465751,;PEX5L,non_coding_transcript_exon_variant,,ENST00000461537,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,non_coding_transcript_exon_variant,,ENST00000477829,;	1212	171	164	SUCCESS
SNORA81	677847	.	GRCh37	3	186504557	186504557	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	60	0	ENST00000408493.2:n.94A>G		p.*32*	ENST00000408493	NR_002989.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3282.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGTAAC	NONE	.	.	.	.	.	ENSP00000326381	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,intron_variant,,ENST00000323963,;EIF4A2,intron_variant,,ENST00000356531,;EIF4A2,intron_variant,,ENST00000440191,;RFC4,downstream_gene_variant,,ENST00000296273,;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000441007,;EIF4A2,downstream_gene_variant,,ENST00000498746,;RFC4,downstream_gene_variant,,ENST00000392481,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA81,non_coding_transcript_exon_variant,,ENST00000408493,;SNORA63,downstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475409,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,intron_variant,,ENST00000497177,;EIF4A2,intron_variant,,ENST00000426808,;EIF4A2,intron_variant,,ENST00000475653,;EIF4A2,intron_variant,,ENST00000443963,;EIF4A2,intron_variant,,ENST00000468362,;EIF4A2,intron_variant,,ENST00000465792,;EIF4A2,intron_variant,,ENST00000429589,;EIF4A2,intron_variant,,ENST00000492144,;EIF4A2,intron_variant,,ENST00000425053,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000465267,;EIF4A2,downstream_gene_variant,,ENST00000486805,;RFC4,downstream_gene_variant,,ENST00000460408,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,downstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000461021,;RFC4,downstream_gene_variant,,ENST00000494047,;EIF4A2,upstream_gene_variant,,ENST00000494445,;	.	60	34	SUCCESS
IL1RAP	3556	.	GRCh37	3	190347332	190347332	+	intron_variant	Intron	SNP	A	A	G	rs190520539	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	55	209	0	ENST00000072516.3:c.1051+45A>G		p.*351*	ENST00000072516	NM_001167929.1			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS54696.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACATTGTG	NONE	byCluster|by1000G	.	.	G:0.001	.	ENSP00000314807	G:0	.	.	.	.	.	.	.	.	.	rs190520539	.	PASS	ENST00000317757	Transcript	.	G:0.0002	ENSG00000196083	5995	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	IL1AP_HUMAN	IL1RAP	HGNC	Q8N9C1_HUMAN,C9JT28_HUMAN,C9J1D9_HUMAN	.	UPI000020A9C1	SNV	IL1RAP,3_prime_UTR_variant,,ENST00000412080,;IL1RAP,3_prime_UTR_variant,,ENST00000434491,;IL1RAP,3_prime_UTR_variant,,ENST00000422940,;IL1RAP,3_prime_UTR_variant,,ENST00000422485,;IL1RAP,intron_variant,,ENST00000439062,;IL1RAP,intron_variant,,ENST00000317757,;IL1RAP,intron_variant,,ENST00000412504,;IL1RAP,intron_variant,,ENST00000072516,;IL1RAP,intron_variant,,ENST00000447382,;IL1RAP,intron_variant,,ENST00000443369,;IL1RAP,intron_variant,,ENST00000413869,;IL1RAP,intron_variant,,ENST00000342550,;GCNT1P3,downstream_gene_variant,,ENST00000450607,;	.	209	178	SUCCESS
TOP2B	7155	.	GRCh37	3	25668275	25668275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	55	0	ENST00000264331.4:c.2097T>A	p.His699Gln	p.H699Q	ENST00000264331		699	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS46776.1	2082	MUTECT|MUSE|VARSCANS	.	AAGCCATGTAG	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Superfamily_domains:SSF56719	.	.	ENSP00000396704	.	17/36	.	.	.	.	.	.	.	.	.	17/36	PASS	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.039)	.	tolerated(0.31)	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,missense_variant,p.His699Gln,ENST00000264331,;TOP2B,missense_variant,p.His694Gln,ENST00000435706,;TOP2B,missense_variant,p.His694Gln,ENST00000424225,;TOP2B,downstream_gene_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;	2284	55	58	SUCCESS
SCN5A	6331	.	GRCh37	3	38620987	38620987	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	39	112	1	ENST00000333535.4:c.3229-1G>A		p.X1077_splice	ENST00000333535		1077		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46799.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCTGAAA	NONE	.	.	.	.	.	ENSP00000410257	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	HIGH	17/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,splice_acceptor_variant,,ENST00000413689,;SCN5A,splice_acceptor_variant,,ENST00000425664,;SCN5A,splice_acceptor_variant,,ENST00000414099,;SCN5A,splice_acceptor_variant,,ENST00000333535,;SCN5A,splice_region_variant,,ENST00000423572,;SCN5A,splice_region_variant,,ENST00000455624,;SCN5A,splice_region_variant,,ENST00000443581,;SCN5A,intron_variant,,ENST00000449557,;SCN5A,intron_variant,,ENST00000451551,;SCN5A,intron_variant,,ENST00000450102,;	.	113	120	SUCCESS
MST1	4485	.	GRCh37	3	49724207	49724207	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	56	240	0	ENST00000449682.2:c.757T>C	p.Tyr253His	p.Y253H	ENST00000449682	NM_020998.3	253	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS33757.2	757	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATAGTTGT	BUFFER|p.N256S|c.767A>G|3	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF43,PROSITE_patterns:PS00021,Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,PIRSF_domain:PIRSF500185,Superfamily_domains:SSF57440,Prints_domain:PR00018	.	.	ENSP00000414287	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000449682	Transcript	.	.	ENSG00000173531	7380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	.	MST1	HGNC	G3XAK1_HUMAN	.	UPI0000EE2A31	SNV	MST1,missense_variant,p.Tyr253His,ENST00000449682,;MST1,missense_variant,p.Tyr178His,ENST00000383728,;MST1,3_prime_UTR_variant,,ENST00000545762,;APEH,downstream_gene_variant,,ENST00000296456,;APEH,downstream_gene_variant,,ENST00000438011,;RNF123,upstream_gene_variant,,ENST00000454491,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000327697,;RNF123,upstream_gene_variant,,ENST00000432042,;MST1,non_coding_transcript_exon_variant,,ENST00000494828,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,non_coding_transcript_exon_variant,,ENST00000494809,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000492370,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000484269,;MST1,non_coding_transcript_exon_variant,,ENST00000489007,;MST1,non_coding_transcript_exon_variant,,ENST00000497359,;MST1,non_coding_transcript_exon_variant,,ENST00000484673,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;APEH,downstream_gene_variant,,ENST00000480772,;APEH,downstream_gene_variant,,ENST00000469362,;RNF123,upstream_gene_variant,,ENST00000443204,;MST1,upstream_gene_variant,,ENST00000484144,;RNF123,upstream_gene_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000487805,;AC099668.5,upstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,upstream_gene_variant,,ENST00000498021,;MST1,upstream_gene_variant,,ENST00000481930,;MST1,upstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,upstream_gene_variant,,ENST00000493836,;MST1,upstream_gene_variant,,ENST00000480268,;RNF123,upstream_gene_variant,,ENST00000457726,;	1119	240	243	SUCCESS
GNAI2	2771	.	GRCh37	3	50273847	50273847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	83	0	ENST00000313601.6:c.80G>T	p.Gly27Val	p.G27V	ENST00000313601	NM_002070.2	27	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2813.1	80	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGGAGAGA	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF73,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275	.	.	ENSP00000312999	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000313601	Transcript	.	.	ENSG00000114353	4385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.05)	.	GNAI2_HUMAN	GNAI2	HGNC	Q93020_HUMAN,Q6LCB5_HUMAN,F5GZL8_HUMAN,B4E2X5_HUMAN	.	UPI000000124B	SNV	GNAI2,missense_variant,p.Gly27Val,ENST00000313601,;GNAI2,5_prime_UTR_variant,,ENST00000536647,;GNAI2,intron_variant,,ENST00000422163,;GNAI2,upstream_gene_variant,,ENST00000440628,;GNAI2,intron_variant,,ENST00000491100,;GNAI2,downstream_gene_variant,,ENST00000480090,;GNAI2,missense_variant,p.Gly27Val,ENST00000441156,;GNAI2,intron_variant,,ENST00000446079,;U73169.1,upstream_gene_variant,,ENST00000395152,;	464	83	104	SUCCESS
CACNA2D2	9254	.	GRCh37	3	50415488	50415488	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	29	102	0	ENST00000479441.1:c.1430G>A	p.Gly477Asp	p.G477D	ENST00000479441		477	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS54588.1	1430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCTGCC	NONE	.	.	hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166	.	.	ENSP00000418081	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000479441	Transcript	.	.	ENSG00000007402	1400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	CA2D2_HUMAN	CACNA2D2	HGNC	.	.	UPI0000E5A6AF	SNV	CACNA2D2,missense_variant,p.Gly408Asp,ENST00000360963,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000435965,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000266039,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000429770,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000424201,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000423994,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000479441,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000395083,;	1430	102	121	SUCCESS
PDZRN3	23024	.	GRCh37	3	73437175	73437175	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373968116	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	15	0	ENST00000263666.4:c.1462C>A	p.Leu488Ile	p.L488I	ENST00000263666	NM_015009.1	488	Cta/Ata	0	A:0	.	.	.	.	T	L/I	protein_coding	YES	CCDS33789.1	1462	RADIA|MUTECT|MUSE	.	GGTTAGAAGAG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	A:0.0001	ENSP00000263666	.	8/10	.	.	.	.	.	.	.	.	rs373968116	8/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Leu145Ile,ENST00000466780,;PDZRN3,missense_variant,p.Leu488Ile,ENST00000263666,;PDZRN3,missense_variant,p.Leu85Ile,ENST00000494559,;PDZRN3,missense_variant,p.Leu145Ile,ENST00000462146,;PDZRN3,missense_variant,p.Leu205Ile,ENST00000479530,;PDZRN3,missense_variant,p.Leu210Ile,ENST00000535920,;PDZRN3,missense_variant,p.Leu186Ile,ENST00000492909,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000498048,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000484487,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000477434,;	1577	15	11	SUCCESS
GRM7	2917	.	GRCh37	3	7620716	7620716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	87	332	1	ENST00000357716.4:c.2123G>T	p.Ser708Ile	p.S708I	ENST00000357716	NM_000844.3	708	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43042.1	2123	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTTTAA	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.16)	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Ser708Ile,ENST00000402647,;GRM7,missense_variant,p.Ser708Ile,ENST00000486284,;GRM7,missense_variant,p.Ser708Ile,ENST00000389336,;GRM7,missense_variant,p.Ser708Ile,ENST00000357716,;GRM7,missense_variant,p.Ser708Ile,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Ser708Ile,ENST00000389335,;GRM7,missense_variant,p.Ser708Ile,ENST00000467425,;GRM7,missense_variant,p.Ser708Ile,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	2397	333	292	SUCCESS
TBC1D9	23158	.	GRCh37	4	141543975	141543975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	35	0	ENST00000442267.2:c.3175C>T	p.Leu1059Phe	p.L1059F	ENST00000442267	NM_015130.2	1059	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS47136.1	3175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGGCTGG	NONE	.	.	hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957	.	.	ENSP00000411197	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,missense_variant,p.Leu1059Phe,ENST00000442267,;	3250	35	37	SUCCESS
ARFIP1	27236	.	GRCh37	4	153750843	153750843	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	71	0	ENST00000353617.2:c.58G>A	p.Glu20Lys	p.E20K	ENST00000353617	NM_001025593.1	20	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34080.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGAAGTT	NONE	.	.	hmmpanther:PTHR12141:SF4,hmmpanther:PTHR12141	.	.	ENSP00000395083	.	2/9	.	.	.	.	.	.	.	.	COSM1052168,COSM1052169	2/9	PASS	ENST00000451320	Transcript	.	.	ENSG00000164144	21496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.06)	.	deleterious_low_confidence(0.01)	1,1	ARFP1_HUMAN	ARFIP1	HGNC	B7ZA10_HUMAN,B4E273_HUMAN	.	UPI0000125668	SNV	ARFIP1,missense_variant,p.Glu20Lys,ENST00000451320,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000356064,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000429148,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000405727,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000353617,;	222	71	37	SUCCESS
KLHL2	11275	.	GRCh37	4	166220662	166220662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	62	0	ENST00000226725.6:c.775G>T	p.Val259Phe	p.V259F	ENST00000226725	NM_007246.3	259	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS54815.1	787	RADIA|MUSE	.	AGAGGGTTGAA	NONE	.	.	SMART_domains:SM00875,PIRSF_domain:PIRSF037037,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412	.	.	ENSP00000424198	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000514860	Transcript	.	.	ENSG00000109466	6353	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,missense_variant,p.Val263Phe,ENST00000514860,;KLHL2,missense_variant,p.Val93Phe,ENST00000506761,;KLHL2,missense_variant,p.Val259Phe,ENST00000226725,;KLHL2,missense_variant,p.Val171Phe,ENST00000538127,;KLHL2,missense_variant,p.Val162Phe,ENST00000421009,;KLHL2,non_coding_transcript_exon_variant,,ENST00000509028,;KLHL2,non_coding_transcript_exon_variant,,ENST00000506541,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	1037	62	39	SUCCESS
DOK7	285489	.	GRCh37	4	3494504	3494504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	8	178	0	ENST00000340083.5:c.791C>T	p.Ser264Phe	p.S264F	ENST00000340083	NM_173660.4	264	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3370.2	791	MUTECT|MUSE	.	CCTGTCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21636,hmmpanther:PTHR21636:SF2	.	.	ENSP00000344432	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000340083	Transcript	1	.	ENSG00000175920	26594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	DOK7_HUMAN	DOK7	HGNC	.	.	UPI0000DA4A17	SNV	DOK7,missense_variant,p.Ser264Phe,ENST00000389653,;DOK7,missense_variant,p.Ser264Phe,ENST00000340083,;DOK7,3_prime_UTR_variant,,ENST00000507039,;DOK7,non_coding_transcript_exon_variant,,ENST00000503688,;DOK7,upstream_gene_variant,,ENST00000512714,;DOK7,non_coding_transcript_exon_variant,,ENST00000515886,;DOK7,non_coding_transcript_exon_variant,,ENST00000513995,;	856	178	222	SUCCESS
TLR1	7096	.	GRCh37	4	38799346	38799346	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	31	0	ENST00000308979.2:c.1107G>A	p.Gly369=	p.G369=	ENST00000308979	NM_003263.3	369	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33973.1	1107	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCCCACA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52058	.	.	ENSP00000354932	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000308979	Transcript	1	.	ENSG00000174125	11847	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TLR1_HUMAN	TLR1	HGNC	Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN	.	UPI000013EDFA	SNV	TLR1,synonymous_variant,p.%3D,ENST00000308979,;TLR1,synonymous_variant,p.%3D,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,intron_variant,,ENST00000505744,;TLR1,downstream_gene_variant,,ENST00000508535,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;	1381	31	29	SUCCESS
IBSP	3381	.	GRCh37	4	88732684	88732684	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	71	218	0	ENST00000226284.5:c.576C>T	p.Ser192=	p.S192=	ENST00000226284	NM_004967.3	192	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3624.1	576	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCAGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10345:SF0,hmmpanther:PTHR10345,Pfam_domain:PF05432	.	.	ENSP00000226284	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000226284	Transcript	.	.	ENSG00000029559	5341	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAL_HUMAN	IBSP	HGNC	.	.	UPI000013C899	SNV	IBSP,synonymous_variant,p.%3D,ENST00000226284,;	643	218	215	SUCCESS
PYURF	100996939	.	GRCh37	4	89443178	89443178	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	46	0	ENST00000273968.4:c.206A>G	p.Tyr69Cys	p.Y69C	ENST00000273968	NM_001042616.2	69	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3631.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATATCTG	NONE	.	.	Gene3D:2.20.25.10,Pfam_domain:PF03966,Superfamily_domains:SSF158997	.	.	ENSP00000273968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000273968	Transcript	.	.	ENSG00000145337	44317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PREY_HUMAN	PYURF	HGNC	.	.	UPI0000070EC8	SNV	PYURF,missense_variant,p.Tyr69Cys,ENST00000273968,;HERC3,upstream_gene_variant,,ENST00000513325,;PIGY,upstream_gene_variant,,ENST00000527353,;HERC3,non_coding_transcript_exon_variant,,ENST00000601319,;HERC3,upstream_gene_variant,,ENST00000597259,;HERC3,upstream_gene_variant,,ENST00000598772,;	319	46	46	SUCCESS
PPIP5K2	23262	.	GRCh37	5	102469329	102469329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	58	0	ENST00000358359.3:c.287G>T	p.Cys96Phe	p.C96F	ENST00000358359	NM_001281471.1	96	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS34207.1	287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTGTCTTA	NONE	.	.	hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750	.	.	ENSP00000313070	.	3/30	.	.	.	.	.	.	.	.	.	3/30	PASS	ENST00000321521	Transcript	.	.	ENSG00000145725	29035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	deleterious(0)	.	VIP2_HUMAN	PPIP5K2	HGNC	K7EPT7_HUMAN,D6RFG4_HUMAN	.	UPI000006E414	SNV	PPIP5K2,missense_variant,p.Cys96Phe,ENST00000414217,;PPIP5K2,missense_variant,p.Cys26Phe,ENST00000507310,;PPIP5K2,missense_variant,p.Cys96Phe,ENST00000321521,;PPIP5K2,missense_variant,p.Cys96Phe,ENST00000358359,;PPIP5K2,intron_variant,,ENST00000507921,;PPIP5K2,intron_variant,,ENST00000502481,;PPIP5K2,downstream_gene_variant,,ENST00000515845,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;PPIP5K2,intron_variant,,ENST00000504275,;	860	58	35	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159781851	159781851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	62	0	ENST00000393975.3:c.303G>A	p.Met101Ile	p.M101I	ENST00000393975	NM_031908.4	101	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4351.2	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATCATTCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF8	.	.	ENSP00000377545	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.27)	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,missense_variant,p.Met101Ile,ENST00000393975,;	307	62	75	SUCCESS
TRIM41	90933	.	GRCh37	5	180651721	180651721	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	14	210	0	ENST00000315073.5:c.722A>G	p.Asp241Gly	p.D241G	ENST00000315073	NM_033549.4	241	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS4466.1	722	MUTECT|MUSE	.	GGTAGACGAAG	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000320869	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,missense_variant,p.Asp241Gly,ENST00000351937,;TRIM41,missense_variant,p.Asp241Gly,ENST00000315073,;TRIM41,intron_variant,,ENST00000515499,;MIR4638,upstream_gene_variant,,ENST00000581158,;CTC-338M12.7,non_coding_transcript_exon_variant,,ENST00000499096,;TRIM41,missense_variant,p.Asp222Gly,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515834,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;	1432	210	211	SUCCESS
TTC33	23548	.	GRCh37	5	40716358	40716358	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	82	1	ENST00000337702.4:c.678A>T	p.Ser226=	p.S226=	ENST00000337702	NM_012382.2	226	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3931.1	678	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCTGAAAC	NONE	.	.	hmmpanther:PTHR15544:SF0,hmmpanther:PTHR15544	.	.	ENSP00000338533	.	5/5	.	.	.	.	.	.	.	.	COSM3855264	5/5	PASS	ENST00000337702	Transcript	.	.	ENSG00000113638	29959	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TTC33_HUMAN	TTC33	HGNC	.	.	UPI000006D413	SNV	TTC33,synonymous_variant,p.%3D,ENST00000337702,;TTC33,non_coding_transcript_exon_variant,,ENST00000511730,;TTC33,non_coding_transcript_exon_variant,,ENST00000504251,;TTC33,non_coding_transcript_exon_variant,,ENST00000503936,;	831	83	85	SUCCESS
CHD1	1105	.	GRCh37	5	98229285	98229285	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	3	95	0	ENST00000284049.3:c.1826C>T	p.Ala609Val	p.A609V	ENST00000284049	NM_001270.2	609	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34204.1	1826	MUTECT|MUSE	.	TAAATGCCCAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192	.	.	ENSP00000284049	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Ala609Val,ENST00000284049,;RNU6-402P,downstream_gene_variant,,ENST00000410678,;	1976	95	62	SUCCESS
CHD1	1105	.	GRCh37	5	98229286	98229286	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	93	0	ENST00000284049.3:c.1825G>T	p.Ala609Ser	p.A609S	ENST00000284049	NM_001270.2	609	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34204.1	1825	MUTECT|MUSE	.	AAATGCCCAAT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192	.	.	ENSP00000284049	.	13/35	.	.	.	.	.	.	.	.	.	13/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.916)	.	deleterious(0.02)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Ala609Ser,ENST00000284049,;RNU6-402P,downstream_gene_variant,,ENST00000410678,;	1975	93	61	SUCCESS
KIAA0408	9729	.	GRCh37	6	127768213	127768213	+	synonymous_variant	Silent	SNP	C	C	T	rs774400628	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	62	0	ENST00000483725.3:c.1251G>A	p.Glu417=	p.E417=	ENST00000483725	NM_014702.4	417	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34531.1	1251	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCTCTGC	NONE	.	.	hmmpanther:PTHR15705	.	.	ENSP00000435150	.	5/6	.	.	.	.	.	.	.	.	rs774400628	5/6	PASS	ENST00000483725	Transcript	.	.	ENSG00000189367	21636	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K0408_HUMAN	KIAA0408	HGNC	.	.	UPI00001C0BD7	SNV	KIAA0408,synonymous_variant,p.%3D,ENST00000465254,;KIAA0408,synonymous_variant,p.%3D,ENST00000483725,;SOGA3,3_prime_UTR_variant,,ENST00000556132,;SOGA3,downstream_gene_variant,,ENST00000368268,;KIAA0408,downstream_gene_variant,,ENST00000487331,;SOGA3,3_prime_UTR_variant,,ENST00000473298,;SOGA3,3_prime_UTR_variant,,ENST00000481848,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000368281,;SOGA3,downstream_gene_variant,,ENST00000464495,;KIAA0408,downstream_gene_variant,,ENST00000472335,;	1588	62	32	SUCCESS
KIF25	3834	.	GRCh37	6	168439388	168439388	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	65	248	1	ENST00000354419.2:c.473A>G	p.Glu158Gly	p.E158G	ENST00000354419	NM_030615.2	158	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS5305.1	473	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGAGGTTG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF327,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000388878	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.02)	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,missense_variant,p.Glu158Gly,ENST00000351261,;KIF25,missense_variant,p.Glu158Gly,ENST00000354419,;KIF25,missense_variant,p.Glu158Gly,ENST00000443060,;KIF25,downstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000504593,;	864	250	224	SUCCESS
VARS2	57176	.	GRCh37	6	30891005	30891005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	47	236	2	ENST00000321897.5:c.2310G>T	p.Glu770Asp	p.E770D	ENST00000321897		770	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54980.1	2400	RADIA|VARSCANS	.	GCTGAGGAGGT	NONE	.	.	Superfamily_domains:SSF47323,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00422,hmmpanther:PTHR11946:SF71,hmmpanther:PTHR11946	.	.	ENSP00000441000	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000541562	Transcript	.	.	ENSG00000137411	21642	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	tolerated(0.29)	.	SYVM_HUMAN	VARS2	HGNC	B7ZCJ6_HUMAN,A2ABL6_HUMAN	.	UPI0001BDAB0F	SNV	VARS2,missense_variant,p.Glu770Asp,ENST00000321897,;VARS2,missense_variant,p.Glu630Asp,ENST00000542001,;VARS2,missense_variant,p.Glu800Asp,ENST00000541562,;VARS2,missense_variant,p.Glu770Asp,ENST00000416670,;VARS2,non_coding_transcript_exon_variant,,ENST00000476162,;VARS2,non_coding_transcript_exon_variant,,ENST00000477052,;VARS2,non_coding_transcript_exon_variant,,ENST00000469358,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,non_coding_transcript_exon_variant,,ENST00000473916,;	2481	238	169	SUCCESS
VARS2	57176	.	GRCh37	6	30891006	30891006	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	46	233	2	ENST00000321897.5:c.2311G>T	p.Glu771Ter	p.E771*	ENST00000321897		771	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54980.1	2401	RADIA|VARSCANS	.	CTGAGGAGGTA	NONE	.	.	Superfamily_domains:SSF47323,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00422,hmmpanther:PTHR11946:SF71,hmmpanther:PTHR11946	.	.	ENSP00000441000	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000541562	Transcript	.	.	ENSG00000137411	21642	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYVM_HUMAN	VARS2	HGNC	B7ZCJ6_HUMAN,A2ABL6_HUMAN	.	UPI0001BDAB0F	SNV	VARS2,stop_gained,p.Glu771Ter,ENST00000321897,;VARS2,stop_gained,p.Glu631Ter,ENST00000542001,;VARS2,stop_gained,p.Glu801Ter,ENST00000541562,;VARS2,stop_gained,p.Glu771Ter,ENST00000416670,;VARS2,splice_region_variant,,ENST00000476162,;VARS2,splice_region_variant,,ENST00000477052,;VARS2,splice_region_variant,,ENST00000469358,;VARS2,splice_region_variant,,ENST00000477288,;VARS2,splice_region_variant,,ENST00000473916,;	2482	235	167	SUCCESS
AGPAT1	10554	.	GRCh37	6	32138303	32138303	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	101	0	ENST00000336984.6:c.409C>T	p.Leu137=	p.L137=	ENST00000336984	NM_032741.4	137	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4744.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGCCCGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF1,Pfam_domain:PF01553,Gene3D:1iuqA02,TIGRFAM_domain:TIGR00530,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000378877	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000395499	Transcript	.	.	ENSG00000204310	324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCA_HUMAN	AGPAT1	HGNC	Q9HBM8_HUMAN,Q71VH6_HUMAN	.	UPI0000131BD2	SNV	AGPAT1,synonymous_variant,p.%3D,ENST00000395496,;AGPAT1,synonymous_variant,p.%3D,ENST00000375107,;AGPAT1,synonymous_variant,p.%3D,ENST00000395499,;AGPAT1,synonymous_variant,p.%3D,ENST00000375104,;AGPAT1,synonymous_variant,p.%3D,ENST00000395497,;AGPAT1,synonymous_variant,p.%3D,ENST00000336984,;AGPAT1,synonymous_variant,p.%3D,ENST00000412465,;EGFL8,downstream_gene_variant,,ENST00000395512,;EGFL8,downstream_gene_variant,,ENST00000333845,;EGFL8,downstream_gene_variant,,ENST00000432129,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;AGPAT1,non_coding_transcript_exon_variant,,ENST00000476663,;AGPAT1,intron_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,downstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;EGFL8,downstream_gene_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;EGFL8,downstream_gene_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;	989	101	113	SUCCESS
FGD2	221472	.	GRCh37	6	36979514	36979514	+	synonymous_variant	Silent	SNP	C	C	T	rs760274038	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	132	1	ENST00000274963.8:c.411C>T	p.Arg137=	p.R137=	ENST00000274963	NM_173558.3	137	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4829.1	411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCAGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF82,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000274963	.	4/16	.	.	.	.	.	.	.	.	rs760274038	4/16	PASS	ENST00000274963	Transcript	.	.	ENSG00000146192	3664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD2_HUMAN	FGD2	HGNC	.	.	UPI00001A9477	SNV	FGD2,synonymous_variant,p.%3D,ENST00000274963,;FGD2,non_coding_transcript_exon_variant,,ENST00000459781,;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,;FGD2,intron_variant,,ENST00000373535,;FGD2,upstream_gene_variant,,ENST00000494343,;FGD2,downstream_gene_variant,,ENST00000497659,;FGD2,upstream_gene_variant,,ENST00000493635,;FGD2,downstream_gene_variant,,ENST00000487975,;FGD2,upstream_gene_variant,,ENST00000470273,;FGD2,downstream_gene_variant,,ENST00000489356,;	582	133	135	SUCCESS
FOXP4	116113	.	GRCh37	6	41566660	41566660	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	80	247	0	ENST00000307972.4:c.2029G>A	p.Glu677Lys	p.E677K	ENST00000307972		677	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34447.1	2029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGAGAAGAA	NONE	.	.	hmmpanther:PTHR25042:SF13,hmmpanther:PTHR25042,Low_complexity_(Seg):seg	.	.	ENSP00000362151	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000373060	Transcript	.	.	ENSG00000137166	20842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	FOXP4_HUMAN	FOXP4	HGNC	Q8N4A5_HUMAN,Q69YN9_HUMAN	.	UPI000007462D	SNV	FOXP4,missense_variant,p.Glu664Lys,ENST00000373063,;FOXP4,missense_variant,p.Glu677Lys,ENST00000307972,;FOXP4,missense_variant,p.Glu665Lys,ENST00000409208,;FOXP4,missense_variant,p.Glu675Lys,ENST00000373057,;FOXP4,missense_variant,p.Glu677Lys,ENST00000373060,;MIR4641,downstream_gene_variant,,ENST00000578353,;	2487	247	235	SUCCESS
LGSN	51557	.	GRCh37	6	63990465	63990465	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	64	0	ENST00000370657.4:c.991A>G	p.Thr331Ala	p.T331A	ENST00000370657		331	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS4964.1	991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTGCTGC	NONE	.	.	Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.24)	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	SNV	LGSN,missense_variant,p.Thr331Ala,ENST00000370657,;LGSN,synonymous_variant,p.%3D,ENST00000370658,;LGSN,intron_variant,,ENST00000485906,;	1025	64	48	SUCCESS
PGM3	5238	.	GRCh37	6	83888466	83888466	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	94	0	ENST00000513973.1:c.955A>C	p.Ser319Arg	p.S319R	ENST00000513973	NM_001199918.1	319	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS56436.1	1039	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACTTTCTC	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF15,Gene3D:3.40.120.10,PIRSF_domain:PIRSF016408,Superfamily_domains:SSF53738	.	.	ENSP00000425809	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.11)	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,missense_variant,p.Ser319Arg,ENST00000512866,;PGM3,missense_variant,p.Ser319Arg,ENST00000513973,;PGM3,missense_variant,p.Ser238Arg,ENST00000283977,;PGM3,missense_variant,p.Ser347Arg,ENST00000506587,;PGM3,upstream_gene_variant,,ENST00000509219,;PGM3,downstream_gene_variant,,ENST00000510258,;PGM3,downstream_gene_variant,,ENST00000505470,;PGM3,upstream_gene_variant,,ENST00000507404,;	1186	94	78	SUCCESS
PLXNA4	91584	.	GRCh37	7	131833385	131833385	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	42	100	0	ENST00000321063.4:c.4681G>A	p.Ala1561Thr	p.A1561T	ENST00000321063	NM_020911.1	1561	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43646.1	4681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCCCCAC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337,Gene3D:3.10.20.90	.	.	ENSP00000352882	.	26/32	.	.	.	.	.	.	.	.	COSM1548217,COSM1548216	26/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.266)	.	tolerated(0.27)	1,1	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Ala1561Thr,ENST00000321063,;PLXNA4,missense_variant,p.Ala1561Thr,ENST00000359827,;PLXNA4,upstream_gene_variant,,ENST00000496550,;	5644	100	137	SUCCESS
FAM126A	84668	.	GRCh37	7	23053624	23053624	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	94	0	ENST00000432176.2:c.-109G>A		p.*37*	ENST00000432176	NM_032581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5377.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTCCCG	NONE	.	.	.	.	.	ENSP00000403396	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000432176	Transcript	.	.	ENSG00000122591	24587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYCCI_HUMAN	FAM126A	HGNC	.	.	UPI000006FF45	SNV	FAM126A,missense_variant,p.Gly43Arg,ENST00000440481,;FAM126A,5_prime_UTR_variant,,ENST00000409763,;FAM126A,5_prime_UTR_variant,,ENST00000432176,;FAM126A,5_prime_UTR_variant,,ENST00000409923,;FAM126A,non_coding_transcript_exon_variant,,ENST00000465661,;FAM126A,non_coding_transcript_exon_variant,,ENST00000477349,;FAM126A,non_coding_transcript_exon_variant,,ENST00000467005,;	125	94	85	SUCCESS
AOAH	313	.	GRCh37	7	36571897	36571897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	50	205	1	ENST00000258749.5:c.1360C>A	p.Leu454Ile	p.L454I	ENST00000258749	NM_001637.3	454	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS5448.1	1360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGCAGT	NONE	.	.	hmmpanther:PTHR15010,Pfam_domain:PF00657	.	.	ENSP00000258749	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000258749	Transcript	.	.	ENSG00000136250	548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.724)	.	tolerated(0.07)	.	AOAH_HUMAN	AOAH	HGNC	.	.	UPI0000001291	SNV	AOAH,missense_variant,p.Leu422Ile,ENST00000535891,;AOAH,missense_variant,p.Leu176Ile,ENST00000538464,;AOAH,missense_variant,p.Leu454Ile,ENST00000431169,;AOAH,missense_variant,p.Leu454Ile,ENST00000258749,;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;	1760	206	158	SUCCESS
ABCA13	154664	.	GRCh37	7	48619929	48619929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	69	1	ENST00000435803.1:c.14464T>A	p.Tyr4822Asn	p.Y4822N	ENST00000435803	NM_152701.3	4822	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS47584.1	14464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATTACTGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	56/62	.	.	.	.	.	.	.	.	.	56/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Tyr4822Asn,ENST00000435803,;ABCA13,missense_variant,p.Tyr552Asn,ENST00000544596,;ABCA13,missense_variant,p.Tyr595Asn,ENST00000411975,;ABCA13,missense_variant,p.Tyr1088Asn,ENST00000453246,;	14488	70	57	SUCCESS
ZDHHC4	55146	.	GRCh37	7	6621814	6621814	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs183719718	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	55	164	0	ENST00000335965.6:c.303del	p.Leu102PhefsTer7	p.L102Ffs*7	ENST00000335965		101	cTt/ct	0	G:0.0005	G:0.0015	.	G:0	.	-	L/X	protein_coding	YES	CCDS5352.1	302	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTACCTTCTTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF47	G:0	G:0	ENSP00000379934	G:0	5/8	.	.	.	.	.	.	.	.	rs183719718	5/8	PASS	ENST00000396706	Transcript	.	G:0.0004	ENSG00000136247	18471	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	ZDHC4_HUMAN	ZDHHC4	HGNC	C9J5I9_HUMAN	.	UPI0000048F5A	deletion	ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396707,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396709,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396706,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000483589,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000335965,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396713,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000405731,;AC079742.4,intron_variant,,ENST00000434951,;ZDHHC4,downstream_gene_variant,,ENST00000496017,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000493944,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000474097,;ZDHHC4,downstream_gene_variant,,ENST00000489138,;ZDHHC4,upstream_gene_variant,,ENST00000474738,;	745	164	211	SUCCESS
SAMD9L	219285	.	GRCh37	7	92764969	92764969	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	107	0	ENST00000318238.4:c.316C>T	p.His106Tyr	p.H106Y	ENST00000318238	NM_152703.2	106	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS34681.1	316	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTGTTTTG	NONE	.	.	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	.	.	ENSP00000326247	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000318238	Transcript	.	.	ENSG00000177409	1349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	SAM9L_HUMAN	SAMD9L	HGNC	B4E3M1_HUMAN	.	UPI000020F567	SNV	SAMD9L,missense_variant,p.His106Tyr,ENST00000318238,;SAMD9L,missense_variant,p.His106Tyr,ENST00000437805,;SAMD9L,missense_variant,p.His106Tyr,ENST00000411955,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;	1533	107	78	SUCCESS
SLC25A13	10165	.	GRCh37	7	95838258	95838258	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	33	59	1	ENST00000265631.5:c.360A>G	p.Thr120=	p.T120=	ENST00000265631		120	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS55130.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATTGTGGT	NONE	.	.	PROSITE_profiles:PS50222,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000400101	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000416240	Transcript	.	.	ENSG00000004864	10983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMC2_HUMAN	SLC25A13	HGNC	Q75KX8_HUMAN	.	UPI0000001663	SNV	SLC25A13,synonymous_variant,p.%3D,ENST00000265631,;SLC25A13,synonymous_variant,p.%3D,ENST00000542654,;SLC25A13,synonymous_variant,p.%3D,ENST00000416240,;SLC25A13,3_prime_UTR_variant,,ENST00000472162,;	551	60	57	SUCCESS
LRP12	29967	.	GRCh37	8	105544164	105544164	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	37	135	1	ENST00000276654.5:c.107A>T	p.Glu36Val	p.E36V	ENST00000276654	NM_013437.4	36	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6303.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTCAGAA	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216	.	.	ENSP00000276654	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious_low_confidence(0.01)	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,missense_variant,p.Glu36Val,ENST00000276654,;LRP12,intron_variant,,ENST00000424843,;LRP12,intron_variant,,ENST00000520770,;LRP12,intron_variant,,ENST00000519675,;	216	136	93	SUCCESS
NRG1	3084	.	GRCh37	8	32621590	32621590	+	synonymous_variant	Silent	SNP	C	C	T	rs576124928	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	103	0	ENST00000405005.3:c.1593C>T	p.Tyr531=	p.Y531=	ENST00000405005		531	taC/taT	0	.	T:0.0008	.	T:0	.	T	Y	protein_coding	YES	CCDS6083.1	1608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTACGAGCC	NONE	by1000G	.	Low_complexity_(Seg):seg,Pfam_domain:PF02158,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7	T:0	.	ENSP00000349275	T:0	13/13	.	.	.	.	.	.	.	.	rs576124928	13/13	PASS	ENST00000356819	Transcript	.	T:0.0002	ENSG00000157168	7997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NRG1_HUMAN	NRG1	HGNC	Q7RTW5_HUMAN,B7Z168_HUMAN	.	UPI000013DED7	SNV	NRG1,synonymous_variant,p.%3D,ENST00000338921,;NRG1,synonymous_variant,p.%3D,ENST00000287842,;NRG1,synonymous_variant,p.%3D,ENST00000539990,;NRG1,synonymous_variant,p.%3D,ENST00000519301,;NRG1,synonymous_variant,p.%3D,ENST00000356819,;NRG1,synonymous_variant,p.%3D,ENST00000523534,;NRG1,synonymous_variant,p.%3D,ENST00000405005,;NRG1,synonymous_variant,p.%3D,ENST00000287845,;NRG1,3_prime_UTR_variant,,ENST00000341377,;NRG1,downstream_gene_variant,,ENST00000523079,;NRG1,downstream_gene_variant,,ENST00000521670,;NRG1,downstream_gene_variant,,ENST00000518104,;RP11-1002K11.1,upstream_gene_variant,,ENST00000607314,;	2125	103	101	SUCCESS
PRDM14	63978	.	GRCh37	8	70981670	70981670	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	10	132	0	ENST00000276594.2:c.426G>A	p.Pro142=	p.P142=	ENST00000276594	NM_024504.3	142	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6206.1	426	MUTECT|MUSE|VARSCANS	.	CAACACGGGCC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354	.	.	ENSP00000276594	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000276594	Transcript	.	.	ENSG00000147596	14001	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRD14_HUMAN	PRDM14	HGNC	C9JMM8_HUMAN	.	UPI0000132186	SNV	PRDM14,synonymous_variant,p.%3D,ENST00000276594,;PRDM14,downstream_gene_variant,,ENST00000426346,;	628	132	126	SUCCESS
CCDC180	100499483	.	GRCh37	9	100105674	100105674	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs745550977	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	74	0	ENST00000375202.2:c.2459C>G	p.Ser820Cys	p.S820C	ENST00000375202		820	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS35077.2	2459	MUTECT|MUSE	.	GGAGTCCTTCA	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	33/51	.	.	.	.	.	.	.	.	rs745550977	33/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.09)	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,missense_variant,p.Ser959Cys,ENST00000357054,;CCDC180,missense_variant,p.Ser820Cys,ENST00000375202,;CCDC180,missense_variant,p.Ser820Cys,ENST00000529487,;CCDC180,missense_variant,p.Ser817Cys,ENST00000411667,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;CCDC180,non_coding_transcript_exon_variant,,ENST00000528678,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;CCDC180,intron_variant,,ENST00000530011,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;	3811	74	94	SUCCESS
TGFBR1	7046	.	GRCh37	9	101908774	101908774	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746666082	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	70	0	ENST00000374994.4:c.1138G>A	p.Ala380Thr	p.A380T	ENST00000374994	NM_004612.2	380	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6738.1	1138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGCCCCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF61,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000364133	.	7/9	.	.	.	.	.	.	.	.	rs746666082	7/9	PASS	ENST00000374994	Transcript	.	.	ENSG00000106799	11772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TGFR1_HUMAN	TGFBR1	HGNC	Q5T7S2_HUMAN,F8VVC4_HUMAN,B4DY26_HUMAN	.	UPI000011D62A	SNV	TGFBR1,missense_variant,p.Ala311Thr,ENST00000550253,;TGFBR1,missense_variant,p.Ala384Thr,ENST00000552516,;TGFBR1,missense_variant,p.Ala303Thr,ENST00000374990,;TGFBR1,missense_variant,p.Ala380Thr,ENST00000374994,;RNA5SP290,upstream_gene_variant,,ENST00000517133,;TGFBR1,intron_variant,,ENST00000549766,;	1255	70	40	SUCCESS
CNTLN	54875	.	GRCh37	9	17394764	17394764	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	132	0	ENST00000380647.3:c.2312T>C	p.Val771Ala	p.V771A	ENST00000380647		771	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS43789.1	2312	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTCACTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.36)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Val771Ala,ENST00000425824,;CNTLN,missense_variant,p.Val771Ala,ENST00000262360,;CNTLN,missense_variant,p.Val771Ala,ENST00000380647,;	2396	132	89	SUCCESS
IFNE	338376	.	GRCh37	9	21481769	21481769	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	105	0	ENST00000448696.3:c.-76A>T		p.*26*	ENST00000448696	NM_176891.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34997.1	.	MUTECT|MUSE	.	TTTCATGCATC	NONE	.	.	.	.	.	ENSP00000418018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000448696	Transcript	.	.	ENSG00000184995	18163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFNE_HUMAN	IFNE	HGNC	.	.	UPI000000D8A7	SNV	IFNE,5_prime_UTR_variant,,ENST00000448696,;MIR31HG,intron_variant,,ENST00000304425,;	544	105	81	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43625360	43625360	+	synonymous_variant	Silent	SNP	A	A	T	rs770557207	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	40	93	0	ENST00000332857.6:c.3327T>A	p.Ser1109=	p.S1109=	ENST00000332857	NM_001145196.1	1109	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47973.1	3327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTAGACTT	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000329825	.	4/4	.	.	.	.	.	.	.	.	rs770557207	4/4	PASS	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,synonymous_variant,p.%3D,ENST00000332857,;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	3356	93	78	SUCCESS
SMC5	23137	.	GRCh37	9	72874055	72874055	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	39	135	0	ENST00000361138.5:c.61C>G	p.Pro21Ala	p.P21A	ENST00000361138	NM_015110.3	21	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS6632.1	61	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCCGAGA	NONE	.	.	hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306	.	.	ENSP00000354957	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.72)	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,missense_variant,p.Pro21Ala,ENST00000361138,;SMC5-AS1,upstream_gene_variant,,ENST00000594708,;	119	135	115	SUCCESS
FRMD3	257019	.	GRCh37	9	85863364	85863364	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	34	0	ENST00000304195.3:c.1263C>T	p.Ala421=	p.A421=	ENST00000304195	NM_001244960.1	421	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43840.1	1263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCGGGCTGC	NONE	.	.	hmmpanther:PTHR23280:SF8,hmmpanther:PTHR23280	.	.	ENSP00000303508	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000304195	Transcript	.	.	ENSG00000172159	24125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRMD3_HUMAN	FRMD3	HGNC	.	.	UPI000066DA57	SNV	FRMD3,synonymous_variant,p.%3D,ENST00000304195,;FRMD3,synonymous_variant,p.%3D,ENST00000328788,;FRMD3,synonymous_variant,p.%3D,ENST00000376434,;FRMD3,synonymous_variant,p.%3D,ENST00000376438,;FRMD3,non_coding_transcript_exon_variant,,ENST00000465485,;	1470	34	36	SUCCESS
PLP1	5354	.	GRCh37	X	103042816	103042816	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	71	90	0	ENST00000418604.1:c.543G>T	p.Trp181Cys	p.W181C	ENST00000418604	NM_001128834.1	181	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS14513.1	543	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGACCAC	NONE	.	.	hmmpanther:PTHR11683:SF11,hmmpanther:PTHR11683,Pfam_domain:PF01275,SMART_domains:SM00002	.	.	ENSP00000405750	.	5/8	.	.	.	.	.	.	.	.	CM002828	5/8	PASS	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	SNV	PLP1,missense_variant,p.Trp146Cys,ENST00000361621,;PLP1,missense_variant,p.Trp181Cys,ENST00000303958,;PLP1,missense_variant,p.Trp181Cys,ENST00000418604,;PLP1,downstream_gene_variant,,ENST00000455268,;PLP1,downstream_gene_variant,,ENST00000429977,;PLP1,downstream_gene_variant,,ENST00000434483,;PLP1,downstream_gene_variant,,ENST00000422393,;PLP1,downstream_gene_variant,,ENST00000443502,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000494119,;PLP1,non_coding_transcript_exon_variant,,ENST00000466486,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,downstream_gene_variant,,ENST00000485931,;PLP1,downstream_gene_variant,,ENST00000494475,;PLP1,downstream_gene_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000476160,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	823	90	106	SUCCESS
BCORL1	63035	.	GRCh37	X	129149866	129149866	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	76	94	0	ENST00000218147.7:c.3118C>G	p.Leu1040Val	p.L1040V	ENST00000218147		1040	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS14616.1	3118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCTTGGA	NONE	.	.	hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.351)	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,missense_variant,p.Leu640Val,ENST00000456822,;BCORL1,missense_variant,p.Leu1040Val,ENST00000540052,;BCORL1,missense_variant,p.Leu1040Val,ENST00000303743,;BCORL1,missense_variant,p.Leu476Val,ENST00000441294,;BCORL1,missense_variant,p.Leu1040Val,ENST00000218147,;BCORL1,missense_variant,p.Leu1040Val,ENST00000359304,;BCORL1,downstream_gene_variant,,ENST00000488135,;	3162	94	120	SUCCESS
IGSF1	3547	.	GRCh37	X	130408573	130408573	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	53	0	ENST00000361420.3:c.3751G>A	p.Gly1251Arg	p.G1251R	ENST00000361420		1251	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS55491.1	3766	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTGCTG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF95	.	.	ENSP00000359940	.	18/20	.	.	.	.	.	.	.	.	COSM1115212	18/20	PASS	ENST00000370903	Transcript	.	.	ENSG00000147255	5948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	tolerated(0.09)	1	IGSF1_HUMAN	IGSF1	HGNC	.	.	UPI0000E0C769	SNV	IGSF1,missense_variant,p.Gly1251Arg,ENST00000361420,;IGSF1,missense_variant,p.Gly1242Arg,ENST00000370904,;IGSF1,missense_variant,p.Gly1242Arg,ENST00000370910,;IGSF1,missense_variant,p.Gly1256Arg,ENST00000370903,;IGSF1,downstream_gene_variant,,ENST00000467244,;	4049	53	27	SUCCESS
SLC9A6	10479	.	GRCh37	X	135106598	135106598	+	synonymous_variant	Silent	SNP	A	A	G	rs891695661	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	48	93	0	ENST00000370698.3:c.1476A>G	p.Val492=	p.V492=	ENST00000370698	NM_006359.2	492	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44003.1	1572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTATTTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF94,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000359729	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000370695	Transcript	.	.	ENSG00000198689	11079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9A6_HUMAN	SLC9A6	HGNC	Q8WYK8_HUMAN,B4DLY9_HUMAN,B4DK83_HUMAN	.	UPI0000062320	SNV	SLC9A6,synonymous_variant,p.%3D,ENST00000370695,;SLC9A6,synonymous_variant,p.%3D,ENST00000370698,;SLC9A6,synonymous_variant,p.%3D,ENST00000370701,;	1607	93	82	SUCCESS
GAB3	139716	.	GRCh37	X	153940659	153940659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	91	88	0	ENST00000369575.3:c.911C>T	p.Ser304Phe	p.S304F	ENST00000369575	NM_080612.2	304	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS48198.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGACATA	NONE	.	.	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF2	.	.	ENSP00000399588	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000424127	Transcript	.	.	ENSG00000160219	17515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.21)	.	GAB3_HUMAN	GAB3	HGNC	.	.	UPI0000F23D6F	SNV	GAB3,missense_variant,p.Ser305Phe,ENST00000424127,;GAB3,missense_variant,p.Ser304Phe,ENST00000369575,;GAB3,missense_variant,p.Ser305Phe,ENST00000369568,;GAB3,intron_variant,,ENST00000496390,;	966	88	123	SUCCESS
P2RY8	286530	.	GRCh37	X	1585347	1585347	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	39	125	0	ENST00000381297.4:c.105G>T	p.Ala35=	p.A35=	ENST00000381297	NM_178129.4	35	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14115.1	105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACCGCCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24232:SF25,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000370697	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381297	Transcript	.	.	ENSG00000182162	15524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY8_HUMAN	P2RY8	HGNC	.	.	UPI000000DA6D	SNV	P2RY8,synonymous_variant,p.%3D,ENST00000381297,;P2RY8,non_coding_transcript_exon_variant,,ENST00000460672,;	316	125	120	SUCCESS
CD99	4267	.	GRCh37	X	2645348	2645348	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	264	114	428	2	ENST00000381192.3:c.475+934T>G		p.*159*	ENST00000381192	NM_001277710.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14119.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGCTCTTTG	NONE	.	.	.	.	.	ENSP00000370588	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381192	Transcript	.	.	ENSG00000002586	7082	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD99_HUMAN	CD99	HGNC	.	.	UPI0000000C42	SNV	CD99,missense_variant,p.Ser164Ala,ENST00000381184,;CD99,intron_variant,,ENST00000381187,;CD99,intron_variant,,ENST00000381192,;CD99,downstream_gene_variant,,ENST00000449611,;CD99,intron_variant,,ENST00000482405,;CD99,downstream_gene_variant,,ENST00000497752,;CD99,downstream_gene_variant,,ENST00000482293,;CD99,intron_variant,,ENST00000381177,;	.	430	378	SUCCESS
CLCN5	1184	.	GRCh37	X	49854827	49854827	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	61	0	ENST00000307367.2:c.1589G>T	p.Gly530Val	p.G530V	ENST00000307367		530	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS48115.1	1799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGTGGCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00762,Superfamily_domains:SSF81340,Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689	.	.	ENSP00000365256	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000376088	Transcript	.	.	ENSG00000171365	2023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLCN5_HUMAN	CLCN5	HGNC	.	.	UPI0000212052	SNV	CLCN5,missense_variant,p.Gly530Val,ENST00000307367,;CLCN5,missense_variant,p.Gly600Val,ENST00000376091,;CLCN5,missense_variant,p.Gly530Val,ENST00000376108,;CLCN5,missense_variant,p.Gly600Val,ENST00000376088,;	2440	61	47	SUCCESS
FAM46D	0	.	GRCh37	X	79698451	79698451	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	77	0	ENST00000538312.1:c.413G>A	p.Cys138Tyr	p.C138Y	ENST00000538312	NM_001170574.1	138	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS14446.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTGCAATG	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	COSM3721724	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.589)	.	tolerated(0.37)	1	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,missense_variant,p.Cys138Tyr,ENST00000308293,;FAM46D,missense_variant,p.Cys138Tyr,ENST00000538312,;	747	77	42	SUCCESS
SEC31B	25956	.	GRCh37	10	102269156	102269156	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs554078291	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	69	0	ENST00000370345.3:c.316C>A	p.Leu106Met	p.L106M	ENST00000370345	NM_015490.3	106	Ctg/Atg	0	.	C:0	.	C:0	.	T	L/M	protein_coding	YES	CCDS7495.1	316	RADIA|MUSE	.	AGACAGGATGT	NONE	by1000G	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923	C:0	.	ENSP00000359370	C:0.001	4/26	.	.	.	.	.	.	.	.	rs554078291	4/26	nonpreferredpair	ENST00000370345	Transcript	.	C:0.0002	ENSG00000075826	23197	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.459)	C:0	tolerated(0.21)	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,missense_variant,p.Leu106Met,ENST00000370329,;SEC31B,missense_variant,p.Leu106Met,ENST00000370345,;SEC31B,missense_variant,p.Leu106Met,ENST00000451524,;NDUFB8,intron_variant,,ENST00000531258,;SEC31B,intron_variant,,ENST00000535773,;SEC31B,missense_variant,p.Leu106Met,ENST00000469546,;SEC31B,missense_variant,p.Leu106Met,ENST00000462434,;NDUFB8,3_prime_UTR_variant,,ENST00000529568,;NDUFB8,intron_variant,,ENST00000527595,;NDUFB8,intron_variant,,ENST00000557395,;SEC31B,intron_variant,,ENST00000479697,;SEC31B,intron_variant,,ENST00000480905,;SEC31B,intron_variant,,ENST00000482456,;SEC31B,upstream_gene_variant,,ENST00000490567,;SEC31B,upstream_gene_variant,,ENST00000484848,;	414	69	36	SUCCESS
ADAM12	8038	.	GRCh37	10	127760045	127760045	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	201	0	ENST00000368679.4:c.1332+1G>T		p.X444_splice	ENST00000368679	NM_003474.4	444		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7653.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTACCTCTG	NONE	.	.	.	.	.	ENSP00000357668	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	HIGH	12/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,splice_donor_variant,,ENST00000368679,;ADAM12,splice_donor_variant,,ENST00000368676,;ADAM12,upstream_gene_variant,,ENST00000467145,;ADAM12,upstream_gene_variant,,ENST00000482291,;	.	201	86	SUCCESS
ADAM12	8038	.	GRCh37	10	127760046	127760046	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	42	202	1	ENST00000368679.4:c.1332G>T	p.Glu444Asp	p.E444D	ENST00000368679	NM_003474.4	444	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS7653.1	1332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACCTCTGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000357668	.	12/23	.	.	.	.	.	.	.	.	.	12/23	nonpreferredpair	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	tolerated(0.2)	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Glu444Asp,ENST00000368679,;ADAM12,missense_variant,p.Glu444Asp,ENST00000368676,;ADAM12,upstream_gene_variant,,ENST00000467145,;ADAM12,upstream_gene_variant,,ENST00000482291,;	1642	203	86	SUCCESS
AKR1E2	83592	.	GRCh37	10	4879675	4879675	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761782479	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	116	0	ENST00000298375.7:c.484G>A	p.Gly162Arg	p.G162R	ENST00000298375	NM_001040177.2	162	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31134.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCGGGCTG	NONE	byFrequency	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF189,PROSITE_patterns:PS00062,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069	.	.	ENSP00000298375	.	5/10	.	.	.	.	.	.	.	.	rs761782479	5/10	nonpreferredpair	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0)	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,missense_variant,p.Gly162Arg,ENST00000334019,;AKR1E2,missense_variant,p.Gly166Arg,ENST00000533295,;AKR1E2,missense_variant,p.Gly162Arg,ENST00000532248,;AKR1E2,missense_variant,p.Gly162Arg,ENST00000298375,;AKR1E2,intron_variant,,ENST00000345253,;AKR1E2,upstream_gene_variant,,ENST00000487985,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000462718,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000525627,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000525281,;AKR1E2,non_coding_transcript_exon_variant,,ENST00000441590,;AKR1E2,missense_variant,p.Gly162Arg,ENST00000463345,;AKR1E2,missense_variant,p.Gly58Arg,ENST00000474119,;AKR1E2,3_prime_UTR_variant,,ENST00000525572,;	555	116	95	SUCCESS
CTR9	9646	.	GRCh37	11	10796824	10796824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	85	1	ENST00000361367.2:c.2956C>A	p.Pro986Thr	p.P986T	ENST00000361367	NM_014633.3	986	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS7805.1	2956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTCCACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2	.	.	ENSP00000355013	.	23/25	.	.	.	.	.	.	.	.	.	23/25	nonpreferredpair	ENST00000361367	Transcript	.	.	ENSG00000198730	16850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.49)	.	CTR9_HUMAN	CTR9	HGNC	.	.	UPI000006F32A	SNV	CTR9,missense_variant,p.Pro986Thr,ENST00000361367,;CTR9,downstream_gene_variant,,ENST00000529898,;	3382	86	43	SUCCESS
MUC2	4583	.	GRCh37	11	1095258	1095258	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	15	75	0	ENST00000441003.2:c.6078G>A	p.Lys2026=	p.K2026=	ENST00000441003	NM_002457.2	2026	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	.	6078	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGTCGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	.	ENSP00000415183	.	32/49	.	.	.	.	.	.	.	.	.	32/49	nonpreferredpair	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000361558,;MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,3_prime_UTR_variant,,ENST00000333592,;MUC2,downstream_gene_variant,,ENST00000359061,;	6105	75	150	SUCCESS
ARHGAP20	57569	.	GRCh37	11	110477435	110477435	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	74	0	ENST00000260283.4:c.814C>T	p.Arg272Ter	p.R272*	ENST00000260283	NM_020809.3	272	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS31673.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCGAAGAT	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF24,Pfam_domain:PF00788,Superfamily_domains:SSF54236	.	.	ENSP00000260283	.	10/16	.	.	.	.	.	.	.	.	.	10/16	nonpreferredpair	ENST00000260283	Transcript	.	.	ENSG00000137727	18357	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG20_HUMAN	ARHGAP20	HGNC	.	.	UPI000013D0BA	SNV	ARHGAP20,stop_gained,p.Arg272Ter,ENST00000260283,;ARHGAP20,stop_gained,p.Arg236Ter,ENST00000527598,;ARHGAP20,stop_gained,p.Arg236Ter,ENST00000528829,;ARHGAP20,stop_gained,p.Arg246Ter,ENST00000357139,;ARHGAP20,stop_gained,p.Arg246Ter,ENST00000533353,;ARHGAP20,stop_gained,p.Arg249Ter,ENST00000524756,;	1099	74	52	SUCCESS
BCO2	83875	.	GRCh37	11	112064703	112064703	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs556041453	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	76	0	ENST00000357685.5:c.619G>T	p.Glu207Ter	p.E207*	ENST00000357685		207	Gaa/Taa	0	.	C:0	.	C:0	.	T	E/*	protein_coding	YES	CCDS8358.2	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGAAAAA	NONE	by1000G	.	hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF23,Pfam_domain:PF03055	C:0	.	ENSP00000350314	C:0	4/12	.	.	.	.	.	.	.	.	rs556041453	4/12	nonpreferredpair	ENST00000357685	Transcript	.	C:0.0002	ENSG00000197580	18503	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	BCDO2_HUMAN	BCO2	HGNC	E9PS89_HUMAN,B0YIX6_HUMAN	.	UPI00005FB124	SNV	BCO2,stop_gained,p.Glu173Ter,ENST00000531169,;BCO2,stop_gained,p.Glu173Ter,ENST00000526088,;BCO2,stop_gained,p.Glu173Ter,ENST00000438022,;BCO2,stop_gained,p.Glu207Ter,ENST00000357685,;BCO2,stop_gained,p.Glu102Ter,ENST00000532593,;BCO2,stop_gained,p.Glu106Ter,ENST00000530677,;BCO2,stop_gained,p.Glu173Ter,ENST00000393032,;AP002884.3,intron_variant,,ENST00000532612,;BCO2,intron_variant,,ENST00000361053,;SDHD,downstream_gene_variant,,ENST00000525468,;BCO2,3_prime_UTR_variant,,ENST00000527939,;BCO2,non_coding_transcript_exon_variant,,ENST00000494860,;BCO2,non_coding_transcript_exon_variant,,ENST00000460924,;BCO2,intron_variant,,ENST00000534550,;SDHD,downstream_gene_variant,,ENST00000525987,;BCO2,downstream_gene_variant,,ENST00000531003,;SDHD,downstream_gene_variant,,ENST00000532699,;BCO2,downstream_gene_variant,,ENST00000534122,;	754	76	64	SUCCESS
USP2	9099	.	GRCh37	11	119228275	119228275	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	129	0	ENST00000260187.2:c.1527G>A	p.Arg509=	p.R509=	ENST00000260187	NM_004205.4	509	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8422.1	1527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATCCTGGA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000260187	.	11/13	.	.	.	.	.	.	.	.	.	11/13	nonpreferredpair	ENST00000260187	Transcript	.	.	ENSG00000036672	12618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP2_HUMAN	USP2	HGNC	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN	.	UPI00001379D8	SNV	USP2,synonymous_variant,p.%3D,ENST00000455332,;USP2,synonymous_variant,p.%3D,ENST00000525735,;USP2,synonymous_variant,p.%3D,ENST00000260187,;USP2,downstream_gene_variant,,ENST00000532613,;USP2,downstream_gene_variant,,ENST00000525189,;	1822	129	117	SUCCESS
NUP98	4928	.	GRCh37	11	3707425	3707425	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	115	0	ENST00000359171.4:c.4455-2754G>C		p.*1485*	ENST00000359171				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7746.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCTGCAA	NONE	.	.	.	.	.	ENSP00000316032	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	HIGH	28/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	NUP98,splice_acceptor_variant,,ENST00000429801,;NUP98,splice_acceptor_variant,,ENST00000324932,;NUP98,intron_variant,,ENST00000359171,;NUP98,intron_variant,,ENST00000355260,;NUP98,splice_acceptor_variant,,ENST00000524563,;	.	115	101	SUCCESS
RAB3IL1	5866	.	GRCh37	11	61666807	61666807	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	28	0	ENST00000394836.2:c.1045C>G	p.Gln349Glu	p.Q349E	ENST00000394836	NM_013401.3	349	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS8014.1	1045	MUTECT|MUSE	.	GCCTTGCTGGA	NONE	.	.	hmmpanther:PTHR14430:SF1,hmmpanther:PTHR14430	.	.	ENSP00000378313	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000394836	Transcript	.	.	ENSG00000167994	9780	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.257)	.	deleterious(0)	.	R3GEF_HUMAN	RAB3IL1	HGNC	.	.	UPI000007260E	SNV	RAB3IL1,missense_variant,p.Gln2Glu,ENST00000526200,;RAB3IL1,missense_variant,p.Gln323Glu,ENST00000301773,;RAB3IL1,missense_variant,p.Gln349Glu,ENST00000394836,;RAB3IL1,non_coding_transcript_exon_variant,,ENST00000533136,;RAB3IL1,downstream_gene_variant,,ENST00000530888,;	1203	28	40	SUCCESS
SLC3A2	6520	.	GRCh37	11	62648802	62648802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	13	0	ENST00000377890.2:c.610A>G	p.Ile204Val	p.I204V	ENST00000377890	NM_002394.5	204	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31588.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAATCGTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10357:SF12,hmmpanther:PTHR10357	.	.	ENSP00000367123	.	4/12	.	.	.	.	.	.	.	.	.	4/12	nonpreferredpair	ENST00000377891	Transcript	.	.	ENSG00000168003	11026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.599)	.	tolerated(0.08)	.	.	SLC3A2	HGNC	J3KPF3_HUMAN,F5H867_HUMAN,F5H056_HUMAN,F5GZI0_HUMAN,B4E2Z3_HUMAN	.	UPI00004EC298	SNV	SLC3A2,missense_variant,p.Ile235Val,ENST00000377892,;SLC3A2,missense_variant,p.Ile103Val,ENST00000338663,;SLC3A2,missense_variant,p.Ile205Val,ENST00000377891,;SLC3A2,missense_variant,p.Ile175Val,ENST00000538084,;SLC3A2,missense_variant,p.Ile204Val,ENST00000377890,;SLC3A2,missense_variant,p.Ile142Val,ENST00000377889,;SLC3A2,missense_variant,p.Ile103Val,ENST00000544377,;SLC3A2,missense_variant,p.Ile173Val,ENST00000535296,;SLC3A2,intron_variant,,ENST00000539458,;SLC3A2,upstream_gene_variant,,ENST00000539891,;SLC3A2,downstream_gene_variant,,ENST00000541372,;SLC3A2,upstream_gene_variant,,ENST00000536981,;SLC3A2,upstream_gene_variant,,ENST00000539507,;SLC3A2,upstream_gene_variant,,ENST00000546253,;SLC3A2,upstream_gene_variant,,ENST00000538682,;SLC3A2,upstream_gene_variant,,ENST00000537839,;SLC3A2,upstream_gene_variant,,ENST00000537508,;SLC3A2,upstream_gene_variant,,ENST00000457660,;SLC3A2,upstream_gene_variant,,ENST00000541649,;SLC3A2,upstream_gene_variant,,ENST00000535768,;SLC3A2,upstream_gene_variant,,ENST00000542922,;SLC3A2,upstream_gene_variant,,ENST00000541425,;SLC3A2,upstream_gene_variant,,ENST00000546312,;	772	13	45	SUCCESS
IPO7	10527	.	GRCh37	11	9450696	9450696	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	162	0	ENST00000379719.3:c.1544T>A	p.Val515Glu	p.V515E	ENST00000379719	NM_006391.2	515	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS31425.1	1544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTGGAAG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	14/25	.	.	.	.	.	.	.	.	.	14/25	nonpreferredpair	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	SNV	IPO7,missense_variant,p.Val515Glu,ENST00000379719,;SNORA23,downstream_gene_variant,,ENST00000365128,;CTD-2371O3.2,downstream_gene_variant,,ENST00000531111,;IPO7,downstream_gene_variant,,ENST00000530037,;	1686	162	108	SUCCESS
HNF1A	6927	.	GRCh37	12	121431983	121431983	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	41	112	0	ENST00000257555.6:c.730A>G	p.Arg244Gly	p.R244G	ENST00000257555		244	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS9209.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAGAGGG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000257555	.	4/10	.	.	.	.	.	.	.	.	COSM21473	4/10	nonpreferredpair	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0.01)	1	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,missense_variant,p.Arg244Gly,ENST00000541395,;HNF1A,missense_variant,p.Arg244Gly,ENST00000400024,;HNF1A,missense_variant,p.Arg244Gly,ENST00000402929,;HNF1A,missense_variant,p.Arg127Gly,ENST00000543427,;HNF1A,missense_variant,p.Arg244Gly,ENST00000544413,;HNF1A,missense_variant,p.Arg244Gly,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Arg292Gly,ENST00000560968,;HNF1A,synonymous_variant,p.%3D,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,intron_variant,,ENST00000541924,;HNF1A,upstream_gene_variant,,ENST00000543255,;	956	112	148	SUCCESS
HNF1A	6927	.	GRCh37	12	121434162	121434164	+	frameshift_variant	Frame_Shift_Del	DEL	GTC	GTC	TT	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	GTC	GTC	.	.	.	.	.	.	.	.	.	.	.	.	.	113	27	131	0	ENST00000257555.6:c.1053_1055delinsTT	p.Thr354ArgfsTer10	p.T354Rfs*10	ENST00000257555		351	gtGTCc/gtTTc	0	.	.	.	.	.	TT	VS/VX	protein_coding	YES	CCDS9209.1	1053-1055	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCAAGTGTCCCCCA	NONE	.	.	hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF04812	.	.	ENSP00000257555	.	5/10	.	.	.	.	.	.	.	.	.	5/10	nonpreferredpair	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	substitution	HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000541395,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000400024,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000402929,;HNF1A,frameshift_variant,p.Thr237ArgfsTer10,ENST00000543427,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000544413,;HNF1A,frameshift_variant,p.Thr354ArgfsTer10,ENST00000257555,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;RP11-216P16.2,downstream_gene_variant,,ENST00000606238,;HNF1A,3_prime_UTR_variant,,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000541924,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,upstream_gene_variant,,ENST00000543255,;	1279-1281	131	140	SUCCESS
TARBP2	6895	.	GRCh37	12	53898479	53898479	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	101	0	ENST00000266987.2:c.496-3A>G		p.X166_splice	ENST00000266987	NM_134323.1	166		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8861.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAAGGAG	NONE	.	.	.	.	.	ENSP00000266987	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000266987	Transcript	.	.	ENSG00000139546	11569	.	.	LOW	5/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRBP2_HUMAN	TARBP2	HGNC	H3BV98_HUMAN	.	UPI0000071D96	SNV	TARBP2,splice_region_variant,,ENST00000552817,;TARBP2,splice_region_variant,,ENST00000394357,;TARBP2,splice_region_variant,,ENST00000456234,;TARBP2,splice_region_variant,,ENST00000552857,;TARBP2,splice_region_variant,,ENST00000550407,;TARBP2,splice_region_variant,,ENST00000266987,;ATF7,downstream_gene_variant,,ENST00000548446,;RP11-793H13.10,downstream_gene_variant,,ENST00000591834,;NPFF,downstream_gene_variant,,ENST00000609999,;MAP3K12,upstream_gene_variant,,ENST00000548565,;NPFF,downstream_gene_variant,,ENST00000267017,;RP11-793H13.11,upstream_gene_variant,,ENST00000602306,;TARBP2,downstream_gene_variant,,ENST00000549028,;TARBP2,synonymous_variant,p.%3D,ENST00000549572,;TARBP2,splice_region_variant,,ENST00000550147,;TARBP2,splice_region_variant,,ENST00000547064,;TARBP2,splice_region_variant,,ENST00000551157,;TARBP2,splice_region_variant,,ENST00000547541,;TARBP2,splice_region_variant,,ENST00000549679,;TARBP2,splice_region_variant,,ENST00000546763,;TARBP2,splice_region_variant,,ENST00000548971,;TARBP2,splice_region_variant,,ENST00000551741,;RP11-793H13.10,downstream_gene_variant,,ENST00000448979,;TARBP2,downstream_gene_variant,,ENST00000552650,;TARBP2,downstream_gene_variant,,ENST00000546889,;TARBP2,downstream_gene_variant,,ENST00000549610,;TARBP2,downstream_gene_variant,,ENST00000547388,;	.	101	82	SUCCESS
OR9K2	441639	.	GRCh37	12	55524128	55524128	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	128	0	ENST00000305377.5:c.576T>C	p.Ser192=	p.S192=	ENST00000305377	NM_001005243.1	192	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31814.1	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTTTTTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF110,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000307598	.	1/1	.	.	.	.	.	.	.	.	COSM549096	1/1	nonpreferredpair	ENST00000305377	Transcript	.	.	ENSG00000170605	15339	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR9K2_HUMAN	OR9K2	HGNC	.	.	UPI00003B287B	SNV	OR9K2,synonymous_variant,p.%3D,ENST00000305377,;	664	128	87	SUCCESS
ESYT1	23344	.	GRCh37	12	56526103	56526103	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773005777	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	43	167	0	ENST00000394048.5:c.971C>T	p.Ser324Phe	p.S324F	ENST00000394048	NM_001184796.1	324	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS53801.1	971	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTTCCCCTC	NONE	byFrequency	.	hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26	.	.	ENSP00000445952	.	8/32	.	.	.	.	.	.	.	.	rs773005777	8/32	nonpreferredpair	ENST00000541590	Transcript	.	.	ENSG00000139641	29534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.16)	.	ESYT1_HUMAN	ESYT1	HGNC	F8VZB1_HUMAN	.	UPI0000D720B2	SNV	ESYT1,missense_variant,p.Ser324Phe,ENST00000267113,;ESYT1,missense_variant,p.Ser324Phe,ENST00000394048,;ESYT1,missense_variant,p.Ser324Phe,ENST00000541590,;ESYT1,downstream_gene_variant,,ENST00000551790,;RP11-603J24.5,upstream_gene_variant,,ENST00000549438,;RP11-603J24.5,upstream_gene_variant,,ENST00000550947,;ESYT1,downstream_gene_variant,,ENST00000550986,;ESYT1,downstream_gene_variant,,ENST00000550179,;	1024	168	144	SUCCESS
TMBIM4	51643	.	GRCh37	12	66531753	66531753	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	76	0	ENST00000358230.3:c.704T>G	p.Val235Gly	p.V235G	ENST00000358230	NM_016056.2	235	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS41805.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTAACTGCT	NONE	.	.	hmmpanther:PTHR23291:SF34,hmmpanther:PTHR23291	.	.	ENSP00000350965	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000358230	Transcript	.	.	ENSG00000155957	24257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.22)	.	LFG4_HUMAN	TMBIM4	HGNC	G3V1R8_HUMAN	.	UPI00001FC6E2	SNV	TMBIM4,missense_variant,p.Val204Gly,ENST00000542724,;TMBIM4,missense_variant,p.Val58Gly,ENST00000544599,;TMBIM4,missense_variant,p.Val235Gly,ENST00000358230,;TMBIM4,missense_variant,p.Val282Gly,ENST00000286424,;TMBIM4,3_prime_UTR_variant,,ENST00000398033,;TMBIM4,3_prime_UTR_variant,,ENST00000556010,;RP11-745O10.2,downstream_gene_variant,,ENST00000510317,;TMBIM4,3_prime_UTR_variant,,ENST00000545407,;TMBIM4,3_prime_UTR_variant,,ENST00000539652,;TMBIM4,non_coding_transcript_exon_variant,,ENST00000538217,;TMBIM4,downstream_gene_variant,,ENST00000545504,;TMBIM4,downstream_gene_variant,,ENST00000534930,;	825	76	47	SUCCESS
NANOG	79923	.	GRCh37	12	7945627	7945627	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771687755	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	55	160	0	ENST00000229307.4:c.233C>T	p.Thr78Ile	p.T78I	ENST00000229307	NM_024865.2	78	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS31736.1	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCACTTCTG	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF29,Gene3D:1.10.10.60	.	.	ENSP00000229307	.	2/4	.	.	.	.	.	.	.	.	rs771687755	2/4	nonpreferredpair	ENST00000229307	Transcript	.	.	ENSG00000111704	20857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.08)	.	NANOG_HUMAN	NANOG	HGNC	J7H4F6_HUMAN,F5GZI2_HUMAN	.	UPI000013C8F5	SNV	NANOG,missense_variant,p.Thr78Ile,ENST00000526286,;NANOG,missense_variant,p.Thr54Ile,ENST00000541267,;NANOG,missense_variant,p.Thr78Ile,ENST00000229307,;NANOG,3_prime_UTR_variant,,ENST00000526434,;	452	160	119	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518184	85518184	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs758320651	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	56	0	ENST00000393217.2:c.3894G>T	p.Lys1298Asn	p.K1298N	ENST00000393217	NM_001079910.1	1298	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS41816.1	3894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAGAGAGA	NONE	byFrequency	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	rs758320651	17/27	nonpreferredpair	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	tolerated(0.1)	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,missense_variant,p.Lys1298Asn,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	3955	56	68	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85518185	85518185	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	56	0	ENST00000393217.2:c.3895A>T	p.Arg1299Ter	p.R1299*	ENST00000393217	NM_001079910.1	1299	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS41816.1	3895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAGAGAA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	.	.	ENSP00000376910	.	17/27	.	.	.	.	.	.	.	.	.	17/27	nonpreferredpair	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,stop_gained,p.Arg1299Ter,ENST00000393217,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	3956	56	67	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85554390	85554390	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	rs1302045567	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	58	0	ENST00000393217.2:c.4721-1G>C		p.X1574_splice	ENST00000393217	NM_001079910.1	1574		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41816.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAGATTCC	NONE	.	.	.	.	.	ENSP00000376910	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	HIGH	23/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,splice_acceptor_variant,,ENST00000393217,;LRRIQ1,upstream_gene_variant,,ENST00000526363,;LRRIQ1,splice_acceptor_variant,,ENST00000528777,;	.	58	47	SUCCESS
IRS2	8660	.	GRCh37	13	110437992	110437992	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	14	0	ENST00000375856.3:c.409C>T	p.Arg137Cys	p.R137C	ENST00000375856	NM_003749.2	137	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS9510.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCGGTACC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000365016	.	1/2	.	.	.	.	.	.	.	.	.	1/2	nonpreferredpair	ENST00000375856	Transcript	.	.	ENSG00000185950	6126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	IRS2_HUMAN	IRS2	HGNC	Q9UP29_HUMAN,Q8TF73_HUMAN	.	UPI000006E4A8	SNV	IRS2,missense_variant,p.Arg137Cys,ENST00000375856,;	924	14	36	SUCCESS
CPB2	1361	.	GRCh37	13	46638821	46638821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1398416151	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	45	156	0	ENST00000181383.4:c.758C>T	p.Thr253Ile	p.T253I	ENST00000181383	NM_001872.4	253	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS9401.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTGTTCCG	NONE	.	.	hmmpanther:PTHR11705:SF17,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187,Prints_domain:PR00765	.	.	ENSP00000181383	.	8/11	.	.	.	.	.	.	.	.	.	8/11	nonpreferredpair	ENST00000181383	Transcript	.	.	ENSG00000080618	2300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CBPB2_HUMAN	CPB2	HGNC	.	.	UPI000013C764	SNV	CPB2,missense_variant,p.Thr216Ile,ENST00000439329,;CPB2,missense_variant,p.Thr253Ile,ENST00000181383,;CPB2-AS1,intron_variant,,ENST00000415033,;CPB2-AS1,intron_variant,,ENST00000606243,;CPB2-AS1,intron_variant,,ENST00000606991,;CPB2-AS1,intron_variant,,ENST00000606351,;	775	156	131	SUCCESS
KLHL1	57626	.	GRCh37	13	70293586	70293586	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	28	132	0	ENST00000377844.4:c.1930A>G	p.Thr644Ala	p.T644A	ENST00000377844	NM_020866.2	644	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9445.1	1930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGTGGCCA	NONE	.	.	hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715,Superfamily_domains:0052715	.	.	ENSP00000367075	.	9/11	.	.	.	.	.	.	.	.	.	9/11	nonpreferredpair	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.14)	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,missense_variant,p.Thr451Ala,ENST00000545028,;KLHL1,missense_variant,p.Thr644Ala,ENST00000377844,;	2690	132	118	SUCCESS
LMO7	4008	.	GRCh37	13	76429476	76429476	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	45	184	0	ENST00000465261.2:c.3963-1166G>A		p.*1321*	ENST00000465261	NM_015842.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53876.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGTCTTT	NONE	.	.	.	.	.	ENSP00000433352	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000465261	Transcript	.	.	ENSG00000136153	6646	.	.	MODIFIER	25/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LMO7	HGNC	E9PRJ0_HUMAN,E9PLH4_HUMAN	.	UPI0001929501	SNV	LMO7,missense_variant,p.Gly1348Asp,ENST00000321797,;LMO7,missense_variant,p.Gly1225Asp,ENST00000526202,;LMO7,missense_variant,p.Gly1299Asp,ENST00000341547,;LMO7,intron_variant,,ENST00000357063,;LMO7,intron_variant,,ENST00000465261,;LMO7,intron_variant,,ENST00000377534,;LMO7,upstream_gene_variant,,ENST00000605961,;LMO7,non_coding_transcript_exon_variant,,ENST00000482116,;LMO7,non_coding_transcript_exon_variant,,ENST00000467686,;	.	184	154	SUCCESS
FBXL3	26224	.	GRCh37	13	77589641	77589641	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	132	0	ENST00000355619.5:c.546T>A	p.Thr182=	p.T182=	ENST00000355619	NM_012158.2	182	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9457.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGAGTATC	NONE	.	.	hmmpanther:PTHR23125:SF274,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000347834	.	4/5	.	.	.	.	.	.	.	.	.	4/5	nonpreferredpair	ENST00000355619	Transcript	.	.	ENSG00000005812	13599	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL3_HUMAN	FBXL3	HGNC	.	.	UPI0000035C8B	SNV	FBXL3,synonymous_variant,p.%3D,ENST00000417323,;FBXL3,synonymous_variant,p.%3D,ENST00000355619,;FBXL3,non_coding_transcript_exon_variant,,ENST00000470210,;FBXL3,non_coding_transcript_exon_variant,,ENST00000477982,;FBXL3,non_coding_transcript_exon_variant,,ENST00000485797,;FBXL3,downstream_gene_variant,,ENST00000472949,;	871	132	102	SUCCESS
NDN	4692	.	GRCh37	15	23931535	23931535	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776066263	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	54	0	ENST00000331837.4:c.830A>G	p.Glu277Gly	p.E277G	ENST00000331837	NM_002487.2	277	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS10014.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACTCCATG	BUFFER|p.M276I|c.828G>A|3	byFrequency	.	hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10	.	.	ENSP00000332643	.	1/1	.	.	.	.	.	.	.	.	rs776066263	1/1	nonpreferredpair	ENST00000331837	Transcript	1	.	ENSG00000182636	7675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.283)	.	deleterious(0.02)	.	NECD_HUMAN	NDN	HGNC	.	.	UPI000012FEF1	SNV	NDN,missense_variant,p.Glu277Gly,ENST00000331837,;	916	54	48	SUCCESS
UNC13C	440279	.	GRCh37	15	54590037	54590037	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	72	294	0	ENST00000260323.11:c.4017T>A	p.Ser1339=	p.S1339=	ENST00000260323	NM_001080534.1	1339	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS45264.1	4017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGGGGC	BUFFER|p.R1343*|c.4027C>T|3	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	.	.	ENSP00000260323	.	11/32	.	.	.	.	.	.	.	.	.	11/32	nonpreferredpair	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;	4017	294	243	SUCCESS
GTF3C1	2975	.	GRCh37	16	27549250	27549250	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	65	0	ENST00000356183.4:c.609-2A>T		p.X203_splice	ENST00000356183	NM_001520.3	203		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32414.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTGGAGG	NONE	.	.	.	.	.	ENSP00000348510	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	HIGH	3/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,splice_acceptor_variant,,ENST00000561623,;GTF3C1,splice_acceptor_variant,,ENST00000356183,;	.	65	73	SUCCESS
VPS35	55737	.	GRCh37	16	46716005	46716005	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	8	207	0	ENST00000299138.7:c.185G>C	p.Ser62Thr	p.S62T	ENST00000299138	NM_018206.4	62	aGt/aCt	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS10721.1	185	MUTECT|MUSE	.	AGTAACTCTTT	NONE	.	.	hmmpanther:PTHR11099,Pfam_domain:PF03635,PIRSF_domain:PIRSF009375	.	.	ENSP00000299138	.	3/17	.	.	.	.	.	.	.	.	.	3/17	nonpreferredpair	ENST00000299138	Transcript	.	.	ENSG00000069329	13487	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.144)	.	tolerated(0.51)	.	VPS35_HUMAN	VPS35	HGNC	.	.	UPI0000138BEF	SNV	VPS35,missense_variant,p.Ser62Thr,ENST00000299138,;VPS35,upstream_gene_variant,,ENST00000568642,;VPS35,3_prime_UTR_variant,,ENST00000568612,;VPS35,3_prime_UTR_variant,,ENST00000561713,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,non_coding_transcript_exon_variant,,ENST00000568191,;VPS35,intron_variant,,ENST00000569950,;VPS35,upstream_gene_variant,,ENST00000563884,;VPS35,downstream_gene_variant,,ENST00000563984,;VPS35,upstream_gene_variant,,ENST00000565228,;	244	207	140	SUCCESS
HYDIN	54768	.	GRCh37	16	71019100	71019100	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs540834594	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	92	0	ENST00000393567.2:c.4320C>G	p.Ile1440Met	p.I1440M	ENST00000393567	NM_001270974.1	1440	atC/atG	0	.	T:0	.	T:0	.	C	I/M	protein_coding	YES	CCDS59269.1	4320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGATTAG	NONE	by1000G	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	T:0	.	ENSP00000377197	T:0	28/86	.	.	.	.	.	.	.	.	rs540834594	28/86	nonpreferredpair	ENST00000393567	Transcript	.	T:0.0002	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	T:0.001	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Ile1440Met,ENST00000393567,;HYDIN,3_prime_UTR_variant,,ENST00000393552,;	4471	92	67	SUCCESS
ZFHX3	463	.	GRCh37	16	72829983	72829983	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	42	120	0	ENST00000268489.5:c.6598G>A	p.Glu2200Lys	p.E2200K	ENST00000268489	NM_006885.3	2200	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS10908.1	6598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCTTTGA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,PROSITE_patterns:PS00027,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000268489	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,missense_variant,p.Glu1286Lys,ENST00000397992,;ZFHX3,missense_variant,p.Glu2200Lys,ENST00000268489,;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;	7271	120	111	SUCCESS
SHISA6	388336	.	GRCh37	17	11166833	11166833	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	51	240	1	ENST00000409168.3:c.789G>A	p.Lys263=	p.K263=	ENST00000409168	NM_001173461.1	263	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS45615.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGCAGAC	NONE	.	.	hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,Pfam_domain:PF13908	.	.	ENSP00000390084	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000441885	Transcript	.	.	ENSG00000188803	34491	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHSA6_HUMAN	SHISA6	HGNC	.	.	UPI000183CBD8	SNV	SHISA6,synonymous_variant,p.%3D,ENST00000432116,;SHISA6,synonymous_variant,p.%3D,ENST00000343478,;SHISA6,synonymous_variant,p.%3D,ENST00000409168,;SHISA6,synonymous_variant,p.%3D,ENST00000441885,;AC005725.1,downstream_gene_variant,,ENST00000517193,;	949	241	104	SUCCESS
KIAA0100	9703	.	GRCh37	17	26948494	26948494	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762354501	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	63	0	ENST00000528896.2:c.4982G>T	p.Arg1661Leu	p.R1661L	ENST00000528896	NM_014680.3	1661	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS32595.1	4982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGGTGC	NONE	.	.	hmmpanther:PTHR15678	.	.	ENSP00000436773	.	27/39	.	.	.	.	.	.	.	.	rs762354501	27/39	nonpreferredpair	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.28)	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,missense_variant,p.Arg1518Leu,ENST00000544884,;KIAA0100,missense_variant,p.Arg1518Leu,ENST00000389003,;KIAA0100,missense_variant,p.Arg1661Leu,ENST00000528896,;SPAG5-AS1,downstream_gene_variant,,ENST00000554154,;SPAG5-AS1,downstream_gene_variant,,ENST00000414744,;SPAG5-AS1,downstream_gene_variant,,ENST00000424210,;KIAA0100,upstream_gene_variant,,ENST00000579924,;KIAA0100,upstream_gene_variant,,ENST00000580395,;KIAA0100,upstream_gene_variant,,ENST00000583860,;SPAG5-AS1,downstream_gene_variant,,ENST00000584675,;	5057	64	62	SUCCESS
KRT15	3866	.	GRCh37	17	39674935	39674935	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1391872089	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	33	86	0	ENST00000254043.3:c.145G>A	p.Ala49Thr	p.A49T	ENST00000254043	NM_002275.3	49	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11398.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAGCAGAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF164,hmmpanther:PTHR23239	.	.	ENSP00000254043	.	1/8	.	.	.	.	.	.	.	.	.	1/8	nonpreferredpair	ENST00000254043	Transcript	.	.	ENSG00000171346	6421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.35)	.	K1C15_HUMAN	KRT15	HGNC	.	.	UPI000013CE0E	SNV	KRT15,missense_variant,p.Ala49Thr,ENST00000393976,;KRT15,missense_variant,p.Ala49Thr,ENST00000254043,;KRT15,5_prime_UTR_variant,,ENST00000393974,;KRT15,intron_variant,,ENST00000458290,;KRT15,upstream_gene_variant,,ENST00000393981,;KRT19,downstream_gene_variant,,ENST00000361566,;KRT15,intron_variant,,ENST00000470004,;KRT15,intron_variant,,ENST00000497016,;KRT15,intron_variant,,ENST00000463447,;KRT15,intron_variant,,ENST00000474031,;KRT15,upstream_gene_variant,,ENST00000586794,;	3731	86	114	SUCCESS
ABCA6	23460	.	GRCh37	17	67080447	67080447	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	83	0	ENST00000284425.2:c.4310A>G	p.Asp1437Gly	p.D1437G	ENST00000284425	NM_080284.2	1437	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS11683.1	4310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATCCAGG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF13,hmmpanther:PTHR19229,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000284425	.	34/39	.	.	.	.	.	.	.	.	.	34/39	nonpreferredpair	ENST00000284425	Transcript	.	.	ENSG00000154262	36	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ABCA6_HUMAN	ABCA6	HGNC	.	.	UPI000013DD9D	SNV	ABCA6,missense_variant,p.Asp1437Gly,ENST00000284425,;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,downstream_gene_variant,,ENST00000589482,;	4485	83	105	SUCCESS
DVL2	1856	.	GRCh37	17	7131298	7131298	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs781418768	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	48	122	0	ENST00000005340.5:c.1100G>T	p.Arg367Leu	p.R367L	ENST00000005340	NM_004422.2	367	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS11091.1	1100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCGGGGG	NONE	byFrequency	.	hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878	.	.	ENSP00000005340	.	10/15	.	.	.	.	.	.	.	.	rs781418768	10/15	nonpreferredpair	ENST00000005340	Transcript	.	.	ENSG00000004975	3086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.821)	.	deleterious(0)	.	DVL2_HUMAN	DVL2	HGNC	B4E2D6_HUMAN	.	UPI0000000DE9	SNV	DVL2,missense_variant,p.Arg361Leu,ENST00000575458,;DVL2,missense_variant,p.Arg363Leu,ENST00000575756,;DVL2,missense_variant,p.Arg45Leu,ENST00000575086,;DVL2,missense_variant,p.Arg367Leu,ENST00000005340,;ACADVL,downstream_gene_variant,,ENST00000542255,;ACADVL,downstream_gene_variant,,ENST00000579546,;ACADVL,downstream_gene_variant,,ENST00000356839,;ACADVL,downstream_gene_variant,,ENST00000543245,;ACADVL,downstream_gene_variant,,ENST00000350303,;DVL2,downstream_gene_variant,,ENST00000574143,;MIR324,upstream_gene_variant,,ENST00000362183,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;DVL2,splice_region_variant,,ENST00000576840,;DVL2,splice_region_variant,,ENST00000576285,;DVL2,non_coding_transcript_exon_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000322910,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582379,;DVL2,downstream_gene_variant,,ENST00000576949,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,downstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000585203,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000576439,;DVL2,upstream_gene_variant,,ENST00000571745,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000578809,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000582450,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000583858,;ACADVL,downstream_gene_variant,,ENST00000583850,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000578579,;	1383	122	89	SUCCESS
SLC26A11	284129	.	GRCh37	17	78220002	78220002	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1304103622	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	38	0	ENST00000361193.3:c.1147G>A	p.Val383Met	p.V383M	ENST00000361193	NM_001166347.1	383	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS11771.2	1147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGGTGACG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF55,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000355384	.	12/18	.	.	.	.	.	.	.	.	.	12/18	nonpreferredpair	ENST00000361193	Transcript	.	.	ENSG00000181045	14471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious(0.04)	.	S2611_HUMAN	SLC26A11	HGNC	Q96BU7_HUMAN,I3L3K8_HUMAN,I3L2J9_HUMAN,I3L1H1_HUMAN,I3L124_HUMAN	.	UPI000003E7B7	SNV	SLC26A11,missense_variant,p.Val383Met,ENST00000361193,;SLC26A11,missense_variant,p.Val383Met,ENST00000572725,;SLC26A11,missense_variant,p.Val383Met,ENST00000546047,;SLC26A11,missense_variant,p.Val383Met,ENST00000411502,;SLC26A11,upstream_gene_variant,,ENST00000575019,;SLC26A11,downstream_gene_variant,,ENST00000571215,;SLC26A11,downstream_gene_variant,,ENST00000571888,;	1427	38	61	SUCCESS
CNTROB	116840	.	GRCh37	17	7851271	7851278	+	frameshift_variant	Frame_Shift_Del	DEL	CTGTCGAC	CTGTCGAC	-	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	CTGTCGAC	CTGTCGAC	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	83	0	ENST00000563694.1:c.2187_2194del	p.Asp730AlafsTer3	p.D730Afs*3	ENST00000563694	NM_053051.3	728	tCTGTCGAC/t	0	.	.	.	.	.	-	SVD/X	protein_coding	YES	CCDS32557.1	2183-2190	VARSCANI*|PINDEL	.	ACCCTTCTGTCGACCTGTT	NONE	.	.	.	.	.	ENSP00000369614	.	15/19	.	.	.	.	.	.	.	.	.	15/19	nonpreferredpair	ENST00000380262	Transcript	.	.	ENSG00000170037	29616	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTRB_HUMAN	CNTROB	HGNC	I3L465_HUMAN,I3L1Z8_HUMAN,I3L1B0_HUMAN	.	UPI00005DB2E1	deletion	CNTROB,frameshift_variant,p.Asp730AlafsTer3,ENST00000380262,;CNTROB,frameshift_variant,p.Asp48AlafsTer3,ENST00000576536,;CNTROB,frameshift_variant,p.Asp730AlafsTer3,ENST00000563694,;CNTROB,frameshift_variant,p.Asp730AlafsTer3,ENST00000565740,;CNTROB,3_prime_UTR_variant,,ENST00000380255,;CNTROB,3_prime_UTR_variant,,ENST00000571632,;CNTROB,non_coding_transcript_exon_variant,,ENST00000576723,;CNTROB,downstream_gene_variant,,ENST00000576922,;CNTROB,downstream_gene_variant,,ENST00000573862,;CNTROB,downstream_gene_variant,,ENST00000574430,;	3108-3115	83	39	SUCCESS
DCC	1630	.	GRCh37	18	50731690	50731690	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	147	0	ENST00000442544.2:c.1678G>A	p.Gly560Ser	p.G560S	ENST00000442544	NM_005215.3	560	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS11952.1	1678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAAGGTTAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000389140	.	10/29	.	.	.	.	.	.	.	.	COSM4140108,COSM4140109	10/29	nonpreferredpair	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.019)	.	tolerated(0.64)	1,1	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Gly215Ser,ENST00000581580,;DCC,missense_variant,p.Gly560Ser,ENST00000442544,;DCC,missense_variant,p.Gly408Ser,ENST00000412726,;DCC,missense_variant,p.Gly494Ser,ENST00000304775,;	2294	147	113	SUCCESS
CCBE1	147372	.	GRCh37	18	57136703	57136703	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	7	219	0	ENST00000439986.4:c.400+2T>A		p.X134_splice	ENST00000439986	NM_133459.3	134		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32838.1	.	MUTECT|MUSE	.	AACACACCCAG	NONE	.	.	.	.	.	ENSP00000404464	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000439986	Transcript	.	.	ENSG00000183287	29426	.	.	HIGH	4/10	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCBE1_HUMAN	CCBE1	HGNC	K7EQ81_HUMAN	.	UPI000004C616	SNV	CCBE1,splice_donor_variant,,ENST00000589419,;CCBE1,splice_donor_variant,,ENST00000398179,;CCBE1,splice_donor_variant,,ENST00000439986,;RP11-27G24.3,downstream_gene_variant,,ENST00000589242,;	.	219	165	SUCCESS
DNMT1	1786	.	GRCh37	19	10248624	10248624	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	53	195	0	ENST00000340748.4:c.4129G>A	p.Val1377Met	p.V1377M	ENST00000340748		1377	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS45958.1	4177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCACCTCCG	NONE	.	.	PROSITE_profiles:PS51679,hmmpanther:PTHR10629:SF11,hmmpanther:PTHR10629,Pfam_domain:PF00145,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037404,Superfamily_domains:SSF53335	.	.	ENSP00000352516	.	36/41	.	.	.	.	.	.	.	.	.	36/41	nonpreferredpair	ENST00000359526	Transcript	1	.	ENSG00000130816	2976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.546)	.	deleterious(0)	.	DNMT1_HUMAN	DNMT1	HGNC	K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN	.	UPI000002A823	SNV	DNMT1,missense_variant,p.Val1377Met,ENST00000340748,;DNMT1,missense_variant,p.Val1377Met,ENST00000540357,;DNMT1,missense_variant,p.Val1393Met,ENST00000359526,;DNMT1,downstream_gene_variant,,ENST00000593049,;DNMT1,downstream_gene_variant,,ENST00000589538,;DNMT1,upstream_gene_variant,,ENST00000591798,;DNMT1,missense_variant,p.Val153Met,ENST00000588913,;DNMT1,3_prime_UTR_variant,,ENST00000592705,;DNMT1,non_coding_transcript_exon_variant,,ENST00000589294,;DNMT1,non_coding_transcript_exon_variant,,ENST00000587197,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586588,;DNMT1,downstream_gene_variant,,ENST00000587604,;DNMT1,downstream_gene_variant,,ENST00000589091,;DNMT1,downstream_gene_variant,,ENST00000589351,;DNMT1,downstream_gene_variant,,ENST00000591239,;	4357	195	145	SUCCESS
OR10H4	126541	.	GRCh37	19	16060284	16060284	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	7	176	0	ENST00000322107.1:c.467T>C	p.Met156Thr	p.M156T	ENST00000322107	NM_001004465.1	156	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS32941.1	467	MUTECT|MUSE	.	AGTCATGGGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF78,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000318834	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000322107	Transcript	.	.	ENSG00000176231	15388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.057)	.	tolerated(0.16)	.	O10H4_HUMAN	OR10H4	HGNC	.	.	UPI0000046194	SNV	OR10H4,missense_variant,p.Met156Thr,ENST00000322107,;	467	176	209	SUCCESS
CILP2	148113	.	GRCh37	19	19654087	19654087	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	58	122	0	ENST00000291495.5:c.1008A>G	p.Arg336=	p.R336=	ENST00000291495	NM_153221.2	336	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS12405.1	1008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGAGCTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000291495	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,synonymous_variant,p.%3D,ENST00000291495,;CILP2,synonymous_variant,p.%3D,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1093	122	216	SUCCESS
TMPRSS9	360200	.	GRCh37	19	2413898	2413898	+	synonymous_variant	Silent	SNP	C	C	A	rs369352581	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	50	1	ENST00000332578.3:c.1353C>A	p.Ala451=	p.A451=	ENST00000332578	NM_182973.1	451	gcC/gcA	0	T:0	.	.	.	.	A	A	protein_coding	YES	CCDS12088.1	1353	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCGCCCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF108,PIRSF_domain:PIRSF037931	.	T:0.0002	ENSP00000330264	.	9/17	.	.	.	.	.	.	.	.	rs369352581	9/17	nonpreferredpair	ENST00000332578	Transcript	.	.	ENSG00000178297	30079	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPS9_HUMAN	TMPRSS9	HGNC	.	.	UPI00001B4EC6	SNV	TMPRSS9,synonymous_variant,p.%3D,ENST00000332578,;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;TMPRSS9,upstream_gene_variant,,ENST00000587863,;	1353	51	96	SUCCESS
FZR1	51343	.	GRCh37	19	3522996	3522996	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	56	73	0	ENST00000395095.3:c.9G>A	p.Gln3=	p.Q3=	ENST00000395095	NM_001136198.1	3	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS45916.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGGACTA	NONE	.	.	hmmpanther:PTHR19918:SF6,hmmpanther:PTHR19918	.	.	ENSP00000378529	.	1/13	.	.	.	.	.	.	.	.	.	1/13	nonpreferredpair	ENST00000395095	Transcript	.	.	ENSG00000105325	24824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZR_HUMAN	FZR1	HGNC	.	.	UPI00001D6A23	SNV	FZR1,synonymous_variant,p.%3D,ENST00000313639,;FZR1,synonymous_variant,p.%3D,ENST00000395095,;FZR1,synonymous_variant,p.%3D,ENST00000441788,;SNORD38,upstream_gene_variant,,ENST00000516599,;FZR1,synonymous_variant,p.%3D,ENST00000591290,;FZR1,non_coding_transcript_exon_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000592214,;	9	73	173	SUCCESS
SCN1B	6324	.	GRCh37	19	35523452	35523452	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	92	0	ENST00000262631.5:c.61T>A	p.Cys21Ser	p.C21S	ENST00000262631	NM_001037.4	21	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS46047.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGCGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10546	.	.	ENSP00000396915	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000415950	Transcript	1	.	ENSG00000105711	10586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	SCN1B_HUMAN	SCN1B	HGNC	.	.	UPI00000473F0	SNV	SCN1B,missense_variant,p.Cys21Ser,ENST00000595652,;SCN1B,missense_variant,p.Cys21Ser,ENST00000415950,;SCN1B,missense_variant,p.Cys21Ser,ENST00000262631,;CTD-2527I21.9,upstream_gene_variant,,ENST00000601692,;SCN1B,non_coding_transcript_exon_variant,,ENST00000596348,;SCN1B,upstream_gene_variant,,ENST00000602150,;	61	92	72	SUCCESS
YIF1B	90522	.	GRCh37	19	38796134	38796134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	82	140	0	ENST00000339413.6:c.803G>A	p.Arg268Gln	p.R268Q	ENST00000339413	NM_001039673.2	268	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33010.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14083,hmmpanther:PTHR14083:SF1,Pfam_domain:PF03878	.	.	ENSP00000343435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000339413	Transcript	.	.	ENSG00000167645	30511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	deleterious(0.01)	.	YIF1B_HUMAN	YIF1B	HGNC	K7EJQ6_HUMAN	.	UPI00005AB2F2	SNV	YIF1B,missense_variant,p.Arg202Gln,ENST00000592246,;YIF1B,missense_variant,p.Gly291Ser,ENST00000337679,;YIF1B,missense_variant,p.Arg237Gln,ENST00000592694,;YIF1B,missense_variant,p.Arg253Gln,ENST00000329420,;YIF1B,missense_variant,p.Arg268Gln,ENST00000339413,;YIF1B,missense_variant,p.Arg237Gln,ENST00000591784,;YIF1B,missense_variant,p.Arg237Gln,ENST00000392124,;C19orf33,downstream_gene_variant,,ENST00000588605,;C19orf33,downstream_gene_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589151,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;C19orf33,downstream_gene_variant,,ENST00000591852,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;C19orf33,downstream_gene_variant,,ENST00000589986,;	849	140	226	SUCCESS
RYR1	6261	.	GRCh37	19	38964295	38964295	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	30	0	ENST00000359596.3:c.4044A>G	p.Lys1348=	p.K1348=	ENST00000359596		1348	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS33011.1	4044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAAGAAGG	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	28/106	.	.	.	.	.	.	.	.	.	28/106	nonpreferredpair	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,synonymous_variant,p.%3D,ENST00000355481,;RYR1,synonymous_variant,p.%3D,ENST00000360985,;RYR1,synonymous_variant,p.%3D,ENST00000359596,;	4044	30	82	SUCCESS
EHD2	30846	.	GRCh37	19	48244419	48244419	+	synonymous_variant	Silent	SNP	C	C	T	rs138874482	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	48	0	ENST00000263277.3:c.1362C>T	p.Asp454=	p.D454=	ENST00000263277	NM_014601.3	454	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS12704.1	1362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGACGAGAT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50031,hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00027,Superfamily_domains:SSF47473	T:0.004	.	ENSP00000263277	T:0	6/6	.	.	.	.	.	.	.	.	rs138874482	6/6	nonpreferredpair	ENST00000263277	Transcript	.	T:0.0008	ENSG00000024422	3243	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	EHD2_HUMAN	EHD2	HGNC	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN	.	UPI0000071B66	SNV	EHD2,synonymous_variant,p.%3D,ENST00000263277,;EHD2,synonymous_variant,p.%3D,ENST00000538399,;GLTSCR2,upstream_gene_variant,,ENST00000246802,;EHD2,non_coding_transcript_exon_variant,,ENST00000540884,;GLTSCR2,upstream_gene_variant,,ENST00000598681,;GLTSCR2,upstream_gene_variant,,ENST00000599582,;GLTSCR2,upstream_gene_variant,,ENST00000599253,;GLTSCR2,upstream_gene_variant,,ENST00000594525,;EHD2,downstream_gene_variant,,ENST00000596225,;GLTSCR2,upstream_gene_variant,,ENST00000600410,;	1613	48	97	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48565344	48565344	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1250422484	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	142	0	ENST00000599921.1:c.1168A>G	p.Ile390Val	p.I390V	ENST00000599921		390	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS59403.1	1198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGATGGCTA	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF28,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000472546	.	14/17	.	.	.	.	.	.	.	.	.	14/17	nonpreferredpair	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	deleterious(0.02)	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,missense_variant,p.Ile390Val,ENST00000599921,;PLA2G4C,missense_variant,p.Ile390Val,ENST00000413144,;PLA2G4C,missense_variant,p.Ile400Val,ENST00000599111,;PLA2G4C,missense_variant,p.Ile390Val,ENST00000354276,;PLA2G4C,missense_variant,p.Ile142Val,ENST00000599300,;PLA2G4C,missense_variant,p.Ile79Val,ENST00000595161,;PLA2G4C,downstream_gene_variant,,ENST00000601946,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000601548,;CTD-2265M8.2,non_coding_transcript_exon_variant,,ENST00000601950,;CTD-2265M8.2,intron_variant,,ENST00000596552,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599239,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596353,;	1500	142	135	SUCCESS
SIGLEC10	89790	.	GRCh37	19	51920190	51920190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	41	157	0	ENST00000339313.5:c.436C>T	p.Pro146Ser	p.P146S	ENST00000339313		146	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12832.1	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGCTTCT	BUFFER|p.Q144K|c.430C>A|4	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000348646	.	3/12	.	.	.	.	.	.	.	.	.	3/12	nonpreferredpair	ENST00000356298	Transcript	.	.	ENSG00000142512	15620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.02)	.	SIG10_HUMAN	SIGLEC10	HGNC	.	.	UPI0000047E1A	SNV	SIGLEC10,splice_donor_variant,,ENST00000432469,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000525998,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000339313,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000353836,;SIGLEC10,missense_variant,p.Pro146Ser,ENST00000356298,;SIGLEC10,missense_variant,p.Pro113Ser,ENST00000530476,;SIGLEC10,intron_variant,,ENST00000436984,;SIGLEC10,intron_variant,,ENST00000442846,;SIGLEC10,intron_variant,,ENST00000441969,;SIGLEC10,intron_variant,,ENST00000439889,;SIGLEC10,intron_variant,,ENST00000529627,;CTD-2616J11.2,intron_variant,,ENST00000532688,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;CTD-2616J11.2,downstream_gene_variant,,ENST00000526996,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000524527,;	553	157	162	SUCCESS
ZNF480	147657	.	GRCh37	19	52817496	52817496	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	73	0	ENST00000468240.2:c.163G>T	p.Val55Leu	p.V55L	ENST00000468240		55	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS12850.2	163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGTGATG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF12,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000471754	.	3/5	.	.	.	.	.	.	.	.	.	3/5	nonpreferredpair	ENST00000595962	Transcript	.	.	ENSG00000198464	23305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	ZN480_HUMAN	ZNF480	HGNC	.	.	UPI0000202AEF	SNV	ZNF480,missense_variant,p.Val55Leu,ENST00000334564,;ZNF480,missense_variant,p.Val55Leu,ENST00000598016,;ZNF480,missense_variant,p.Val55Leu,ENST00000595962,;ZNF480,intron_variant,,ENST00000335090,;ZNF480,intron_variant,,ENST00000490272,;CTD-2525I3.6,intron_variant,,ENST00000594379,;ZNF480,missense_variant,p.Val55Leu,ENST00000468240,;	229	73	60	SUCCESS
ZNF558	148156	.	GRCh37	19	8932718	8932718	+	synonymous_variant	Silent	SNP	G	G	A	rs762746194	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	70	212	1	ENST00000301475.1:c.81C>T	p.Gly27=	p.G27=	ENST00000301475	NM_144693.1	27	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12208.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCGCCCTG	SITE|p.G27G|c.81C>T|3	byFrequency	.	.	.	.	ENSP00000471277	.	6/10	.	.	.	.	.	.	.	.	rs762746194,COSM1003631	6/10	nonpreferredpair	ENST00000601372	Transcript	.	.	ENSG00000167785	26422	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZN558_HUMAN	ZNF558	HGNC	B7Z798_HUMAN	.	UPI000006D81E	SNV	ZNF558,synonymous_variant,p.%3D,ENST00000301475,;ZNF558,synonymous_variant,p.%3D,ENST00000601372,;ZNF558,upstream_gene_variant,,ENST00000444186,;CTD-2529P6.3,intron_variant,,ENST00000594006,;ZNF558,downstream_gene_variant,,ENST00000596172,;ZNF558,downstream_gene_variant,,ENST00000599938,;ZNF558,downstream_gene_variant,,ENST00000595786,;ZNF558,non_coding_transcript_exon_variant,,ENST00000597304,;	793	213	171	SUCCESS
TNFRSF8	943	.	GRCh37	1	12175637	12175637	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	100	0	ENST00000263932.2:c.797A>C	p.Asp266Ala	p.D266A	ENST00000263932	NM_001243.3	266	gAc/gCc	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS144.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGACCTTG	NONE	.	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF85,PROSITE_patterns:PS00652,Pfam_domain:PF00020,Gene3D:2.10.50.10,SMART_domains:SM00208	.	.	ENSP00000263932	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000263932	Transcript	.	.	ENSG00000120949	11923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	.	TNFRSF8	HGNC	A5D8T4_HUMAN	.	UPI000013D48C	SNV	TNFRSF8,missense_variant,p.Asp155Ala,ENST00000417814,;TNFRSF8,missense_variant,p.Asp266Ala,ENST00000263932,;TNFRSF8,3_prime_UTR_variant,,ENST00000514649,;	1019	100	99	SUCCESS
PRAMEF1	65121	.	GRCh37	1	12855897	12855897	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs532097770	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	89	373	0	ENST00000332296.7:c.1177G>A	p.Ala393Thr	p.A393T	ENST00000332296	NM_023013.2	393	Gcc/Acc	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS148.1	1177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACGCCCTG	NONE	by1000G	.	hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	A:0.001	.	ENSP00000332134	A:0	4/4	.	.	.	.	.	.	.	.	rs532097770,COSM1491675,COSM1491674	4/4	nonpreferredpair	ENST00000332296	Transcript	.	A:0.0002	ENSG00000116721	28840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.029)	A:0	tolerated(0.44)	0,1,1	PRAM1_HUMAN	PRAMEF1	HGNC	.	.	UPI00000715BF	SNV	PRAMEF1,missense_variant,p.Ala148Thr,ENST00000400814,;PRAMEF1,missense_variant,p.Ala393Thr,ENST00000332296,;	1280	373	310	SUCCESS
CTSK	1513	.	GRCh37	1	150778408	150778408	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	156	0	ENST00000271651.3:c.328G>T	p.Glu110Ter	p.E110*	ENST00000271651	NM_000396.3	110	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS969.1	328	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTCTGGGA	NONE	.	.	hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF55,Gene3D:3.90.70.10,Superfamily_domains:SSF54001	.	.	ENSP00000271651	.	4/8	.	.	.	.	.	.	.	.	.	4/8	nonpreferredpair	ENST00000271651	Transcript	.	.	ENSG00000143387	2536	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATK_HUMAN	CTSK	HGNC	.	.	UPI0000000DFB	SNV	CTSK,stop_gained,p.Glu110Ter,ENST00000271651,;CTSK,stop_gained,p.Glu169Ter,ENST00000443913,;ARNT,downstream_gene_variant,,ENST00000358595,;ARNT,downstream_gene_variant,,ENST00000354396,;CTSK,non_coding_transcript_exon_variant,,ENST00000480670,;ARNT,downstream_gene_variant,,ENST00000471844,;UBE2D3P3,downstream_gene_variant,,ENST00000426992,;	439	156	125	SUCCESS
CHRNB2	1141	.	GRCh37	1	154543798	154543798	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	243	14	278	0	ENST00000368476.3:c.499C>A	p.Gln167Lys	p.Q167K	ENST00000368476	NM_000748.2	167	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1070.1	499	MUTECT|MUSE	.	ACCAGCAGAAC	NONE	.	.	hmmpanther:PTHR18945:SF80,hmmpanther:PTHR18945,PROSITE_patterns:PS00236,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000357461	.	5/6	.	.	.	.	.	.	.	.	.	5/6	nonpreferredpair	ENST00000368476	Transcript	.	.	ENSG00000160716	1962	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ACHB2_HUMAN	CHRNB2	HGNC	Q5SXY3_HUMAN	.	UPI000012526E	SNV	CHRNB2,missense_variant,p.Gln167Lys,ENST00000368476,;	763	278	257	SUCCESS
RUSC1	23623	.	GRCh37	1	155295430	155295430	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	33	78	0	ENST00000368352.5:c.1781G>C	p.Ser594Thr	p.S594T	ENST00000368352	NM_001105203.1	594	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS41410.1	1781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTAGCCGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50826,hmmpanther:PTHR15591,Pfam_domain:PF02759,Superfamily_domains:0052343	.	.	ENSP00000357336	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.18)	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,missense_variant,p.Ser594Thr,ENST00000368354,;RUSC1,missense_variant,p.Ser125Thr,ENST00000292254,;RUSC1,missense_variant,p.Ser594Thr,ENST00000368352,;RUSC1,missense_variant,p.Ser184Thr,ENST00000368347,;RUSC1,missense_variant,p.Ser125Thr,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000356657,;FDPS,downstream_gene_variant,,ENST00000447866,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,upstream_gene_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000443642,;RUSC1-AS1,upstream_gene_variant,,ENST00000543656,;RUSC1-AS1,upstream_gene_variant,,ENST00000446880,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,non_coding_transcript_exon_variant,,ENST00000497930,;RUSC1,non_coding_transcript_exon_variant,,ENST00000485924,;RUSC1,non_coding_transcript_exon_variant,,ENST00000471876,;RUSC1,non_coding_transcript_exon_variant,,ENST00000479924,;RUSC1,non_coding_transcript_exon_variant,,ENST00000467820,;RUSC1,non_coding_transcript_exon_variant,,ENST00000490373,;RUSC1,non_coding_transcript_exon_variant,,ENST00000489860,;RUSC1,non_coding_transcript_exon_variant,,ENST00000473331,;RUSC1,non_coding_transcript_exon_variant,,ENST00000492536,;RUSC1,non_coding_transcript_exon_variant,,ENST00000468764,;RUSC1,non_coding_transcript_exon_variant,,ENST00000484664,;FDPS,downstream_gene_variant,,ENST00000490140,;FDPS,downstream_gene_variant,,ENST00000492244,;	1932	78	107	SUCCESS
CACNA1E	777	.	GRCh37	1	181452992	181452992	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	69	129	0	ENST00000367573.2:c.112G>T	p.Ala38Ser	p.A38S	ENST00000367573	NM_001205293.1	38	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS55664.1	112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCGCCTAC	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	1/48	.	.	.	.	.	.	.	.	COSM1336816,COSM1336815	1/48	nonpreferredpair	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.515)	.	tolerated(0.61)	1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Ala38Ser,ENST00000360108,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000524607,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000526775,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000367570,;CACNA1E,missense_variant,p.Ala38Ser,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,5_prime_UTR_variant,,ENST00000358338,;CACNA1E,5_prime_UTR_variant,,ENST00000357570,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	112	129	175	SUCCESS
TRAF5	7188	.	GRCh37	1	211545809	211545809	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759328690	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	61	0	ENST00000261464.5:c.1439A>G	p.Gln480Arg	p.Q480R	ENST00000261464	NM_001033910.2	480	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS1497.1	1439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCAGAGGG	NONE	.	.	PROSITE_profiles:PS50144,hmmpanther:PTHR10131:SF66,hmmpanther:PTHR10131,Pfam_domain:PF00917,Gene3D:2.60.210.10,SMART_domains:SM00061,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF49599	.	.	ENSP00000261464	.	11/11	.	.	.	.	.	.	.	.	rs759328690	11/11	nonpreferredpair	ENST00000261464	Transcript	.	.	ENSG00000082512	12035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TRAF5_HUMAN	TRAF5	HGNC	D3DT93_HUMAN,B4E0A2_HUMAN,B3KX26_HUMAN	.	UPI0000070955	SNV	TRAF5,missense_variant,p.Gln480Arg,ENST00000367004,;TRAF5,missense_variant,p.Gln480Arg,ENST00000261464,;TRAF5,missense_variant,p.Gln374Arg,ENST00000427925,;TRAF5,missense_variant,p.Gln480Arg,ENST00000336184,;TRAF5,non_coding_transcript_exon_variant,,ENST00000473385,;	1493	61	77	SUCCESS
EPRS	0	.	GRCh37	1	220193425	220193425	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	175	0	ENST00000366923.3:c.1254A>G	p.Pro418=	p.P418=	ENST00000366923	NM_004446.2	418	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS31027.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATATGGTTT	NONE	.	.	Superfamily_domains:SSF52374,Pfam_domain:PF00749,TIGRFAM_domain:TIGR00463,Gene3D:3.40.50.620,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119	.	.	ENSP00000355890	.	10/32	.	.	.	.	.	.	.	.	.	10/32	nonpreferredpair	ENST00000366923	Transcript	.	.	ENSG00000136628	3418	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYEP_HUMAN	EPRS	HGNC	.	.	UPI0000205E8C	SNV	EPRS,synonymous_variant,p.%3D,ENST00000366923,;EPRS,synonymous_variant,p.%3D,ENST00000609181,;EPRS,intron_variant,,ENST00000477030,;	1524	175	93	SUCCESS
EIF3I	8668	.	GRCh37	1	32687989	32687989	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1569849821	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	46	156	0	ENST00000373586.1:c.-54C>T		p.*18*	ENST00000373586	NM_003757.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS357.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTCGAAAC	NONE	.	.	.	.	.	ENSP00000362688	.	1/11	.	.	.	.	.	.	.	.	.	1/11	nonpreferredpair	ENST00000373586	Transcript	.	.	ENSG00000084623	3272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EIF3I_HUMAN	EIF3I	HGNC	Q9P1D9_HUMAN,Q5U0F4_HUMAN,Q5TFK1_HUMAN	.	UPI000012D2FB	SNV	EIF3I,5_prime_UTR_variant,,ENST00000373586,;EIF3I,5_prime_UTR_variant,,ENST00000355082,;TMEM234,upstream_gene_variant,,ENST00000309777,;TMEM234,upstream_gene_variant,,ENST00000545122,;TMEM234,upstream_gene_variant,,ENST00000344461,;TMEM234,upstream_gene_variant,,ENST00000373593,;EIF3I,upstream_gene_variant,,ENST00000489353,;EIF3I,upstream_gene_variant,,ENST00000471486,;TMEM234,upstream_gene_variant,,ENST00000485689,;EIF3I,upstream_gene_variant,,ENST00000474371,;EIF3I,upstream_gene_variant,,ENST00000483517,;TMEM234,upstream_gene_variant,,ENST00000484490,;TMEM234,upstream_gene_variant,,ENST00000483001,;TMEM234,upstream_gene_variant,,ENST00000491434,;TMEM234,upstream_gene_variant,,ENST00000487174,;TMEM234,upstream_gene_variant,,ENST00000489170,;TMEM234,upstream_gene_variant,,ENST00000461402,;TMEM234,upstream_gene_variant,,ENST00000466796,;	19	156	146	SUCCESS
LRP8	7804	.	GRCh37	1	53727742	53727742	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	68	230	0	ENST00000306052.6:c.1912G>C	p.Glu638Gln	p.E638Q	ENST00000306052	NM_004631.4	638	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS578.1	1912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCAAACA	NONE	.	.	Superfamily_domains:SSF63825,SMART_domains:SM00135,Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF99,PROSITE_profiles:PS51120	.	.	ENSP00000303634	.	12/19	.	.	.	.	.	.	.	.	.	12/19	nonpreferredpair	ENST00000306052	Transcript	.	.	ENSG00000157193	6700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LRP8_HUMAN	LRP8	HGNC	.	.	UPI00001AF338	SNV	LRP8,missense_variant,p.Glu191Gln,ENST00000465675,;LRP8,missense_variant,p.Glu638Gln,ENST00000371454,;LRP8,missense_variant,p.Glu509Gln,ENST00000354412,;LRP8,missense_variant,p.Glu638Gln,ENST00000306052,;LRP8,missense_variant,p.Glu468Gln,ENST00000347547,;LRP8,downstream_gene_variant,,ENST00000475501,;LRP8,splice_region_variant,,ENST00000460214,;LRP8,splice_region_variant,,ENST00000480045,;LRP8,splice_region_variant,,ENST00000481431,;LRP8,splice_region_variant,,ENST00000459674,;LRP8,upstream_gene_variant,,ENST00000529670,;	2014	231	192	SUCCESS
IL12RB2	3595	.	GRCh37	1	67833556	67833556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	121	0	ENST00000262345.1:c.1307A>G	p.Asn436Ser	p.N436S	ENST00000262345	NM_001559.2	436	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS638.1	1307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACAACATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,PROSITE_patterns:PS01353,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000262345	.	10/16	.	.	.	.	.	.	.	.	.	10/16	nonpreferredpair	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.92)	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,missense_variant,p.Asn436Ser,ENST00000541374,;IL12RB2,missense_variant,p.Asn436Ser,ENST00000544434,;IL12RB2,missense_variant,p.Asn436Ser,ENST00000262345,;IL12RB2,missense_variant,p.Asn436Ser,ENST00000371000,;	1947	121	141	SUCCESS
BPIFA3	128861	.	GRCh37	20	31814775	31814775	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	130	0	ENST00000375454.3:c.661G>A	p.Val221Met	p.V221M	ENST00000375454	NM_178466.3	221	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS13216.2	661	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGTGAAA	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF3,Superfamily_domains:SSF55394	.	.	ENSP00000364603	.	6/7	.	.	.	.	.	.	.	.	.	6/7	nonpreferredpair	ENST00000375454	Transcript	.	.	ENSG00000131059	16204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BPIA3_HUMAN	BPIFA3	HGNC	.	.	UPI00003E72D6	SNV	BPIFA3,missense_variant,p.Val221Met,ENST00000375454,;BPIFA3,missense_variant,p.Val185Met,ENST00000375452,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;	871	130	93	SUCCESS
EPB41L1	2036	.	GRCh37	20	34773213	34773213	+	synonymous_variant	Silent	SNP	C	C	T	rs753437652	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	94	0	ENST00000338074.2:c.741C>T	p.Thr247=	p.T247=	ENST00000338074	NM_012156.2	247	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS13271.1	741	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCCGGGA	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF7,Pfam_domain:PF00373,Gene3D:1.20.80.10,PIRSF_domain:PIRSF002304,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000337168	.	7/22	.	.	.	.	.	.	.	.	rs753437652	7/22	nonpreferredpair	ENST00000338074	Transcript	1	.	ENSG00000088367	3378	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E41L1_HUMAN	EPB41L1	HGNC	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN	.	UPI0000129AF8	SNV	EPB41L1,synonymous_variant,p.%3D,ENST00000338074,;EPB41L1,synonymous_variant,p.%3D,ENST00000373950,;EPB41L1,synonymous_variant,p.%3D,ENST00000373941,;EPB41L1,synonymous_variant,p.%3D,ENST00000202028,;EPB41L1,synonymous_variant,p.%3D,ENST00000373945,;EPB41L1,synonymous_variant,p.%3D,ENST00000430276,;EPB41L1,synonymous_variant,p.%3D,ENST00000373946,;EPB41L1,synonymous_variant,p.%3D,ENST00000441639,;EPB41L1,downstream_gene_variant,,ENST00000452261,;EPB41L1,downstream_gene_variant,,ENST00000406771,;	902	94	77	SUCCESS
ZSWIM1	90204	.	GRCh37	20	44511883	44511883	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	51	0	ENST00000372520.1:c.652A>C	p.Ser218Arg	p.S218R	ENST00000372520		218	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS13382.2	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGAGCAAC	NONE	.	.	hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0	.	.	ENSP00000361601	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000372523	Transcript	.	.	ENSG00000168612	16155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.85)	.	ZSWM1_HUMAN	ZSWIM1	HGNC	A8K5I9_HUMAN	.	UPI0000470896	SNV	ZSWIM1,missense_variant,p.Ser218Arg,ENST00000372520,;ZSWIM1,missense_variant,p.Ser218Arg,ENST00000372523,;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,;ZSWIM3,downstream_gene_variant,,ENST00000255152,;	747	51	68	SUCCESS
ITGB2	3689	.	GRCh37	21	46321445	46321445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	88	0	ENST00000302347.5:c.703G>T	p.Gly235Cys	p.G235C	ENST00000302347	NM_000211.3	235	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS13716.1	703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCCTCGG	NONE	.	.	Prints_domain:PR01186,Superfamily_domains:SSF53300,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Pfam_domain:PF00362,Gene3D:3.40.50.410,hmmpanther:PTHR10082:SF15,hmmpanther:PTHR10082	.	.	ENSP00000380948	.	7/17	.	.	.	.	.	.	.	.	.	7/17	nonpreferredpair	ENST00000397850	Transcript	.	.	ENSG00000160255	6155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITB2_HUMAN	ITGB2	HGNC	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN	.	UPI000016A19B	SNV	ITGB2,missense_variant,p.Gly235Cys,ENST00000397850,;ITGB2,missense_variant,p.Gly226Cys,ENST00000320216,;ITGB2,missense_variant,p.Gly235Cys,ENST00000355153,;ITGB2,missense_variant,p.Gly235Cys,ENST00000397852,;ITGB2,missense_variant,p.Gly235Cys,ENST00000397857,;ITGB2,missense_variant,p.Gly235Cys,ENST00000302347,;ITGB2,missense_variant,p.Gly178Cys,ENST00000397854,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,downstream_gene_variant,,ENST00000520389,;	1156	88	119	SUCCESS
RFPL2	10739	.	GRCh37	22	32589248	32589248	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	93	209	0	ENST00000248983.4:c.-5-69C>T		p.*2*	ENST00000248983	NM_001159545.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43009.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTGACAAC	NONE	.	.	.	.	.	ENSP00000383096	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000400237	Transcript	.	.	ENSG00000128253	9979	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFPL2_HUMAN	RFPL2	HGNC	.	.	UPI000013CC66	SNV	RFPL2,missense_variant,p.Ser5Leu,ENST00000248980,;RFPL2,intron_variant,,ENST00000400237,;RFPL2,intron_variant,,ENST00000248983,;RFPL2,intron_variant,,ENST00000400236,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	.	209	192	SUCCESS
MGAT3	4248	.	GRCh37	22	39884425	39884425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	49	0	ENST00000341184.6:c.1073C>T	p.Thr358Ile	p.T358I	ENST00000341184	NM_002409.4	358	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS13994.2	1073	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCACCCTGG	NONE	.	.	hmmpanther:PTHR12224,hmmpanther:PTHR12224:SF0,Pfam_domain:PF04724	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	deleterious(0.03)	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,missense_variant,p.Thr358Ile,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	1288	49	97	SUCCESS
NCKAP5	344148	.	GRCh37	2	133489528	133489528	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	66	223	0	ENST00000409261.1:c.5225C>A	p.Pro1742Gln	p.P1742Q	ENST00000409261	NM_207363.2	1742	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS46418.1	5225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTGGCTGG	NONE	.	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740,Pfam_domain:PF15246	.	.	ENSP00000387128	.	17/20	.	.	.	.	.	.	.	.	.	17/20	nonpreferredpair	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.61)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Pro423Gln,ENST00000409213,;NCKAP5,missense_variant,p.Pro1742Gln,ENST00000409261,;NCKAP5,missense_variant,p.Pro423Gln,ENST00000405974,;NCKAP5,missense_variant,p.Pro1742Gln,ENST00000317721,;NCKAP5,non_coding_transcript_exon_variant,,ENST00000473859,;	5599	224	199	SUCCESS
PRPF40A	55660	.	GRCh37	2	153515808	153515808	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs371901743	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	210	0	ENST00000410080.1:c.2385T>G	p.His795Gln	p.H795Q	ENST00000410080	NM_017892.3	795	caT/caG	0	G:0.0003	.	.	.	.	C	H/Q	protein_coding	YES	CCDS46430.1	2385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTATGATG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864	.	G:0	ENSP00000386458	.	22/26	.	.	.	.	.	.	.	.	rs371901743	22/26	nonpreferredpair	ENST00000410080	Transcript	.	.	ENSG00000196504	16463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	PR40A_HUMAN	PRPF40A	HGNC	Q4ZG51_HUMAN	.	UPI00015743D9	SNV	PRPF40A,missense_variant,p.His795Gln,ENST00000410080,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000471167,;PRPF40A,upstream_gene_variant,,ENST00000471701,;PRPF40A,downstream_gene_variant,,ENST00000472760,;	2927	210	131	SUCCESS
LRP2	4036	.	GRCh37	2	170055351	170055351	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	102	0	ENST00000263816.3:c.8523G>A	p.Leu2841=	p.L2841=	ENST00000263816	NM_004525.2	2841	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2232.1	8523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACAAATA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	45/79	.	.	.	.	.	.	.	.	.	45/79	nonpreferredpair	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,synonymous_variant,p.%3D,ENST00000263816,;	8809	102	88	SUCCESS
MYO3B	140469	.	GRCh37	2	171260757	171260757	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	118	0	ENST00000408978.4:c.2278A>T	p.Met760Leu	p.M760L	ENST00000408978	NM_138995.4	760	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS42773.1	2278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGATGGAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	20/35	.	.	.	.	.	.	.	.	.	20/35	nonpreferredpair	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.16)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Met769Leu,ENST00000484338,;MYO3B,missense_variant,p.Met760Leu,ENST00000408978,;MYO3B,missense_variant,p.Met769Leu,ENST00000334231,;MYO3B,missense_variant,p.Met760Leu,ENST00000409044,;MYO3B,splice_region_variant,,ENST00000602629,;MYO3B,splice_region_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,missense_variant,p.Met760Leu,ENST00000317935,;MYO3B,splice_region_variant,,ENST00000409940,;	2421	118	75	SUCCESS
HNRNPA3	220988	.	GRCh37	2	178081416	178081416	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	29	112	0	ENST00000392524.2:c.656G>T	p.Gly219Val	p.G219V	ENST00000392524		219	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2273.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGATCTG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24012:SF284,hmmpanther:PTHR24012	.	.	ENSP00000376309	.	6/11	.	.	.	.	.	.	.	.	.	6/11	nonpreferredpair	ENST00000392524	Transcript	.	.	ENSG00000170144	24941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	ROA3_HUMAN	HNRNPA3	HGNC	Q8NFG3_HUMAN	.	UPI00001BE8DE	SNV	HNRNPA3,missense_variant,p.Gly219Val,ENST00000435711,;HNRNPA3,missense_variant,p.Gly27Val,ENST00000432457,;HNRNPA3,missense_variant,p.Gly219Val,ENST00000392524,;HNRNPA3,missense_variant,p.Gly197Val,ENST00000411529,;MIR4444-2,downstream_gene_variant,,ENST00000581696,;AC079305.8,upstream_gene_variant,,ENST00000455416,;HNRNPA3,upstream_gene_variant,,ENST00000483137,;	893	112	102	SUCCESS
OSBPL6	114880	.	GRCh37	2	179201097	179201097	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1452795375	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	35	131	0	ENST00000190611.4:c.727A>G	p.Thr243Ala	p.T243A	ENST00000190611	NM_032523.3	243	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS56150.1	727	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAACTGGC	NONE	.	.	hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972	.	.	ENSP00000376293	.	9/26	.	.	.	.	.	.	.	.	.	9/26	nonpreferredpair	ENST00000392505	Transcript	.	.	ENSG00000079156	16388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.55)	.	OSBL6_HUMAN	OSBPL6	HGNC	.	.	UPI0000E5A29F	SNV	OSBPL6,missense_variant,p.Thr243Ala,ENST00000409631,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000409045,;OSBPL6,missense_variant,p.Thr222Ala,ENST00000315022,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000359685,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000392505,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000190611,;OSBPL6,missense_variant,p.Thr243Ala,ENST00000357080,;OSBPL6,downstream_gene_variant,,ENST00000477097,;	1271	131	102	SUCCESS
TTN	7273	.	GRCh37	2	179579150	179579150	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	86	0	ENST00000591111.1:c.25400G>A	p.Trp8467Ter	p.W8467*	ENST00000591111		8467	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS59435.1	26351	RADIA|MUTECT|MUSE	.	AAATCCATATG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	91/363	.	.	.	.	.	.	.	.	COSM2706414,COSM2706415	91/363	nonpreferredpair	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Trp7540Ter,ENST00000342992,;TTN,stop_gained,p.Trp8784Ter,ENST00000589042,;TTN,stop_gained,p.Trp8467Ter,ENST00000591111,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000592630,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589830,;	26576	86	65	SUCCESS
METTL21A	151194	.	GRCh37	2	208478154	208478154	+	synonymous_variant	Silent	SNP	A	A	T	rs776742075	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	35	0	ENST00000406927.2:c.273T>A	p.Thr91=	p.T91=	ENST00000406927		91	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2376.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATAGTCAC	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:3.40.50.150,Pfam_domain:PF10294,hmmpanther:PTHR14614,hmmpanther:PTHR14614:SF14	.	.	ENSP00000415115	.	4/4	.	.	.	.	.	.	.	.	rs776742075	4/4	nonpreferredpair	ENST00000411432	Transcript	.	.	ENSG00000144401	30476	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT21A_HUMAN	METTL21A	HGNC	.	.	UPI000013D97D	SNV	METTL21A,synonymous_variant,p.%3D,ENST00000411432,;METTL21A,synonymous_variant,p.%3D,ENST00000442521,;METTL21A,synonymous_variant,p.%3D,ENST00000448007,;METTL21A,synonymous_variant,p.%3D,ENST00000406927,;METTL21A,synonymous_variant,p.%3D,ENST00000426075,;METTL21A,synonymous_variant,p.%3D,ENST00000272839,;METTL21A,3_prime_UTR_variant,,ENST00000448823,;METTL21A,intron_variant,,ENST00000425132,;METTL21A,intron_variant,,ENST00000432416,;METTL21A,intron_variant,,ENST00000458426,;METTL21A,downstream_gene_variant,,ENST00000461419,;METTL21A,upstream_gene_variant,,ENST00000477919,;	490	35	18	SUCCESS
TRPM8	79054	.	GRCh37	2	234894478	234894478	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	81	232	0	ENST00000324695.4:c.2908C>T	p.Leu970=	p.L970=	ENST00000324695	NM_024080.4	970	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33407.1	2908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCTGCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9,Pfam_domain:PF00520	.	.	ENSP00000323926	.	21/26	.	.	.	.	.	.	.	.	.	21/26	nonpreferredpair	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,synonymous_variant,p.%3D,ENST00000324695,;TRPM8,synonymous_variant,p.%3D,ENST00000456930,;TRPM8,synonymous_variant,p.%3D,ENST00000433712,;TRPM8,non_coding_transcript_exon_variant,,ENST00000475044,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,3_prime_UTR_variant,,ENST00000439148,;TRPM8,downstream_gene_variant,,ENST00000477103,;	2948	232	197	SUCCESS
WDR43	23160	.	GRCh37	2	29129433	29129433	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	97	0	ENST00000407426.3:c.471A>G	p.Thr157=	p.T157=	ENST00000407426	NM_015131.1	157	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS46251.1	471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACATGCAA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF406,hmmpanther:PTHR22847,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000384302	.	3/18	.	.	.	.	.	.	.	.	.	3/18	nonpreferredpair	ENST00000407426	Transcript	.	.	ENSG00000163811	28945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR43_HUMAN	WDR43	HGNC	C9JH61_HUMAN,C9JEE7_HUMAN,C9IZK7_HUMAN	.	UPI00001C1DCD	SNV	WDR43,synonymous_variant,p.%3D,ENST00000440983,;WDR43,synonymous_variant,p.%3D,ENST00000407426,;WDR43,5_prime_UTR_variant,,ENST00000296126,;WDR43,downstream_gene_variant,,ENST00000434238,;	527	97	79	SUCCESS
PEX13	5194	.	GRCh37	2	61258823	61258823	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	32	78	0	ENST00000295030.5:c.362A>C	p.Gln121Pro	p.Q121P	ENST00000295030	NM_002618.3	121	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS1866.1	362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAAGCTG	NONE	.	.	hmmpanther:PTHR19332,Pfam_domain:PF04088	.	.	ENSP00000295030	.	2/4	.	.	.	.	.	.	.	.	.	2/4	nonpreferredpair	ENST00000295030	Transcript	.	.	ENSG00000162928	8855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.05)	.	PEX13_HUMAN	PEX13	HGNC	.	.	UPI0000131707	SNV	PEX13,missense_variant,p.Gln121Pro,ENST00000295030,;PEX13,non_coding_transcript_exon_variant,,ENST00000472678,;	400	78	129	SUCCESS
USP34	9736	.	GRCh37	2	61441759	61441760	+	inframe_insertion	In_Frame_Ins	INS	-	-	GACCTTGTT	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	222	22	253	0	ENST00000398571.2:c.8109_8117dup	p.Thr2704_Ser2706dup	p.T2704_S2706dup	ENST00000398571	NM_014709.3	2704	tct/tcAACAAGGTCt	0	.	.	.	.	.	GACCTTGTT	S/STRS	protein_coding	YES	CCDS42686.1	8117-8118	INDELOCATOR|VARSCANI	.	TGCAAAGACCT	NONE	.	.	.	.	.	ENSP00000381577	.	68/80	.	.	.	.	.	.	.	.	.	68/80	nonpreferredpair	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	insertion	USP34,inframe_insertion,p.Thr464_Ser466dup,ENST00000411912,;USP34,inframe_insertion,p.Thr2704_Ser2706dup,ENST00000398571,;USP34,splice_region_variant,,ENST00000467128,;USP34,non_coding_transcript_exon_variant,,ENST00000472706,;USP34,intron_variant,,ENST00000476716,;USP34,intron_variant,,ENST00000472689,;USP34,intron_variant,,ENST00000463046,;USP34,downstream_gene_variant,,ENST00000490527,;	8194-8195	253	244	SUCCESS
OTX1	5013	.	GRCh37	2	63283430	63283430	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	49	141	0	ENST00000282549.2:c.1044A>T	p.Ser348=	p.S348=	ENST00000282549	NM_014562.3	348	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS1873.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCATGGCG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF310	.	.	ENSP00000282549	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000282549	Transcript	.	.	ENSG00000115507	8521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTX1_HUMAN	OTX1	HGNC	Q9P2R2_HUMAN,B4DM62_HUMAN	.	UPI0000130F36	SNV	OTX1,synonymous_variant,p.%3D,ENST00000282549,;OTX1,synonymous_variant,p.%3D,ENST00000366671,;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;OTX1,downstream_gene_variant,,ENST00000484066,;	1320	141	141	SUCCESS
MRPL53	116540	.	GRCh37	2	74699251	74699251	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749014275	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	9	39	0	ENST00000258105.7:c.334C>T	p.Arg112Cys	p.R112C	ENST00000258105	NM_053050.4	112	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS1944.1	334	MUTECT|MUSE	.	TCAGCGACCAG	NONE	byFrequency	.	.	.	.	ENSP00000258105	.	3/3	.	.	.	.	.	.	.	.	rs749014275	3/3	nonpreferredpair	ENST00000258105	Transcript	.	.	ENSG00000204822	16684	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	RM53_HUMAN	MRPL53	HGNC	.	.	UPI000006ED10	SNV	MRPL53,missense_variant,p.Arg112Cys,ENST00000258105,;MRPL53,3_prime_UTR_variant,,ENST00000409710,;CCDC142,downstream_gene_variant,,ENST00000393965,;CCDC142,downstream_gene_variant,,ENST00000290418,;CCDC142,3_prime_UTR_variant,,ENST00000454193,;MRPL53,non_coding_transcript_exon_variant,,ENST00000468875,;MRPL53,non_coding_transcript_exon_variant,,ENST00000467349,;CCDC142,downstream_gene_variant,,ENST00000497232,;CCDC142,downstream_gene_variant,,ENST00000473278,;CCDC142,downstream_gene_variant,,ENST00000486335,;	996	39	111	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111785275	111785275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	107	0	ENST00000452346.2:c.1592G>A	p.Arg531Lys	p.R531K	ENST00000452346		531	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS43129.2	1214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGGCAGC	NONE	.	.	hmmpanther:PTHR24256:SF17,hmmpanther:PTHR24256,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000411645	.	11/16	.	.	.	.	.	.	.	.	.	11/16	nonpreferredpair	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,missense_variant,p.Arg531Lys,ENST00000452346,;TMPRSS7,missense_variant,p.Arg405Lys,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	1296	107	72	SUCCESS
NR1I2	8856	.	GRCh37	3	119526207	119526207	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	44	184	1	ENST00000393716.2:c.110G>T	p.Gly37Val	p.G37V	ENST00000393716	NM_003889.3	37	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2995.1	227	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGGTCCCC	NONE	.	.	hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF39	.	.	ENSP00000336528	.	2/9	.	.	.	.	.	.	.	.	COSM4112575	2/9	nonpreferredpair	ENST00000337940	Transcript	.	.	ENSG00000144852	7968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.004)	.	tolerated(0.34)	1	NR1I2_HUMAN	NR1I2	HGNC	J3KPQ3_HUMAN,F1DAL3_HUMAN,F1D8P9_HUMAN,B3KVM5_HUMAN	.	UPI000006EC88	SNV	NR1I2,missense_variant,p.Gly76Val,ENST00000337940,;NR1I2,missense_variant,p.Gly37Val,ENST00000466380,;NR1I2,missense_variant,p.Gly37Val,ENST00000393716,;NR1I2,non_coding_transcript_exon_variant,,ENST00000474090,;NR1I2,upstream_gene_variant,,ENST00000493757,;	275	185	155	SUCCESS
CCDC174	51244	.	GRCh37	3	14708391	14708391	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	89	0	ENST00000383794.3:c.661G>A	p.Glu221Lys	p.E221K	ENST00000383794	NM_016474.4	221	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2620.2	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15885,Pfam_domain:PF13300	.	.	ENSP00000373304	.	7/11	.	.	.	.	.	.	.	.	.	7/11	nonpreferredpair	ENST00000383794	Transcript	.	.	ENSG00000154781	28033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.458)	.	deleterious(0)	.	CC174_HUMAN	CCDC174	HGNC	.	.	UPI00004120DD	SNV	CCDC174,missense_variant,p.Glu221Lys,ENST00000303688,;CCDC174,missense_variant,p.Glu221Lys,ENST00000383794,;CCDC174,upstream_gene_variant,,ENST00000476763,;CCDC174,non_coding_transcript_exon_variant,,ENST00000465759,;CCDC174,downstream_gene_variant,,ENST00000463438,;	734	89	50	SUCCESS
KCNMB3	27094	.	GRCh37	3	178968887	178968887	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	96	1	ENST00000314235.5:c.5A>G	p.Asp2Gly	p.D2G	ENST00000314235	NM_014407.3	2	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3226.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGTCCATC	NONE	.	.	.	.	.	ENSP00000319370	.	1/4	.	.	.	.	.	.	.	.	.	1/4	nonpreferredpair	ENST00000314235	Transcript	.	.	ENSG00000171121	6287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious_low_confidence(0)	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA98	SNV	KCNMB3,missense_variant,p.Asp2Gly,ENST00000314235,;KCNMB3,5_prime_UTR_variant,,ENST00000392685,;KCNMB3,intron_variant,,ENST00000349697,;KCNMB3,intron_variant,,ENST00000485523,;KCNMB3,intron_variant,,ENST00000497599,;KCNMB3,intron_variant,,ENST00000392686,;	517	97	92	SUCCESS
PEX5L	51555	.	GRCh37	3	179537706	179537706	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	53	193	0	ENST00000467460.1:c.881A>T	p.Asn294Ile	p.N294I	ENST00000467460	NM_001256751.1	294	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS3236.1	881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTTCCTC	NONE	.	.	hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130	.	.	ENSP00000419975	.	9/15	.	.	.	.	.	.	.	.	.	9/15	nonpreferredpair	ENST00000467460	Transcript	.	.	ENSG00000114757	30024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	PEX5R_HUMAN	PEX5L	HGNC	C9JZE2_HUMAN,C9IZ09_HUMAN	.	UPI0000049CE2	SNV	PEX5L,missense_variant,p.Asn186Ile,ENST00000392649,;PEX5L,missense_variant,p.Asn235Ile,ENST00000472994,;PEX5L,missense_variant,p.Asn186Ile,ENST00000464614,;PEX5L,missense_variant,p.Asn292Ile,ENST00000263962,;PEX5L,missense_variant,p.Asn251Ile,ENST00000476138,;PEX5L,missense_variant,p.Asn259Ile,ENST00000485199,;PEX5L,missense_variant,p.Asn102Ile,ENST00000468741,;PEX5L,missense_variant,p.Asn294Ile,ENST00000467460,;PEX5L,missense_variant,p.Asn270Ile,ENST00000465751,;PEX5L,non_coding_transcript_exon_variant,,ENST00000461537,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,non_coding_transcript_exon_variant,,ENST00000477829,;	1212	193	164	SUCCESS
SNORA81	677847	.	GRCh37	3	186504557	186504557	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	55	0	ENST00000408493.2:n.94A>G		p.*32*	ENST00000408493	NR_002989.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3282.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGTAAC	NONE	.	.	.	.	.	ENSP00000326381	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,intron_variant,,ENST00000323963,;EIF4A2,intron_variant,,ENST00000356531,;EIF4A2,intron_variant,,ENST00000440191,;RFC4,downstream_gene_variant,,ENST00000296273,;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000441007,;EIF4A2,downstream_gene_variant,,ENST00000498746,;RFC4,downstream_gene_variant,,ENST00000392481,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA81,non_coding_transcript_exon_variant,,ENST00000408493,;SNORA63,downstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475409,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,intron_variant,,ENST00000497177,;EIF4A2,intron_variant,,ENST00000426808,;EIF4A2,intron_variant,,ENST00000475653,;EIF4A2,intron_variant,,ENST00000443963,;EIF4A2,intron_variant,,ENST00000468362,;EIF4A2,intron_variant,,ENST00000465792,;EIF4A2,intron_variant,,ENST00000429589,;EIF4A2,intron_variant,,ENST00000492144,;EIF4A2,intron_variant,,ENST00000425053,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000465267,;EIF4A2,downstream_gene_variant,,ENST00000486805,;RFC4,downstream_gene_variant,,ENST00000460408,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,downstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000461021,;RFC4,downstream_gene_variant,,ENST00000494047,;EIF4A2,upstream_gene_variant,,ENST00000494445,;	.	55	34	SUCCESS
IL1RAP	3556	.	GRCh37	3	190347332	190347332	+	intron_variant	Intron	SNP	A	A	G	rs190520539	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	55	239	0	ENST00000072516.3:c.1051+45A>G		p.*351*	ENST00000072516	NM_001167929.1			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS54696.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACATTGTG	NONE	byCluster|by1000G	.	.	G:0.001	.	ENSP00000314807	G:0	.	.	.	.	.	.	.	.	.	rs190520539	.	nonpreferredpair	ENST00000317757	Transcript	.	G:0.0002	ENSG00000196083	5995	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	IL1AP_HUMAN	IL1RAP	HGNC	Q8N9C1_HUMAN,C9JT28_HUMAN,C9J1D9_HUMAN	.	UPI000020A9C1	SNV	IL1RAP,3_prime_UTR_variant,,ENST00000412080,;IL1RAP,3_prime_UTR_variant,,ENST00000434491,;IL1RAP,3_prime_UTR_variant,,ENST00000422940,;IL1RAP,3_prime_UTR_variant,,ENST00000422485,;IL1RAP,intron_variant,,ENST00000439062,;IL1RAP,intron_variant,,ENST00000317757,;IL1RAP,intron_variant,,ENST00000412504,;IL1RAP,intron_variant,,ENST00000072516,;IL1RAP,intron_variant,,ENST00000447382,;IL1RAP,intron_variant,,ENST00000443369,;IL1RAP,intron_variant,,ENST00000413869,;IL1RAP,intron_variant,,ENST00000342550,;GCNT1P3,downstream_gene_variant,,ENST00000450607,;	.	239	178	SUCCESS
TOP2B	7155	.	GRCh37	3	25668275	25668275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	68	0	ENST00000264331.4:c.2097T>A	p.His699Gln	p.H699Q	ENST00000264331		699	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS46776.1	2082	MUTECT|MUSE|VARSCANS	.	AAGCCATGTAG	NONE	.	.	hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Superfamily_domains:SSF56719	.	.	ENSP00000396704	.	17/36	.	.	.	.	.	.	.	.	.	17/36	nonpreferredpair	ENST00000435706	Transcript	.	.	ENSG00000077097	11990	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.039)	.	tolerated(0.31)	.	TOP2B_HUMAN	TOP2B	HGNC	Q8WTY5_HUMAN,Q6LC06_HUMAN,E9PCY5_HUMAN,B4DLV2_HUMAN	.	UPI000002B59A	SNV	TOP2B,missense_variant,p.His699Gln,ENST00000264331,;TOP2B,missense_variant,p.His694Gln,ENST00000435706,;TOP2B,missense_variant,p.His694Gln,ENST00000424225,;TOP2B,downstream_gene_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;	2284	68	58	SUCCESS
SCN5A	6331	.	GRCh37	3	38620987	38620987	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	39	54	0	ENST00000333535.4:c.3229-1G>A		p.X1077_splice	ENST00000333535		1077		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46799.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCTGAAA	NONE	.	.	.	.	.	ENSP00000410257	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000413689	Transcript	.	.	ENSG00000183873	10593	.	.	HIGH	17/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SCN5A	HGNC	Q8WWN5_HUMAN,Q8WTS0_HUMAN,H9KVD2_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN	.	UPI0001572CC8	SNV	SCN5A,splice_acceptor_variant,,ENST00000413689,;SCN5A,splice_acceptor_variant,,ENST00000425664,;SCN5A,splice_acceptor_variant,,ENST00000414099,;SCN5A,splice_acceptor_variant,,ENST00000333535,;SCN5A,splice_region_variant,,ENST00000423572,;SCN5A,splice_region_variant,,ENST00000455624,;SCN5A,splice_region_variant,,ENST00000443581,;SCN5A,intron_variant,,ENST00000449557,;SCN5A,intron_variant,,ENST00000451551,;SCN5A,intron_variant,,ENST00000450102,;	.	54	120	SUCCESS
MST1	4485	.	GRCh37	3	49724207	49724207	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	56	221	0	ENST00000449682.2:c.757T>C	p.Tyr253His	p.Y253H	ENST00000449682	NM_020998.3	253	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS33757.2	757	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATAGTTGT	BUFFER|p.N256S|c.767A>G|3	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF43,PROSITE_patterns:PS00021,Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,PIRSF_domain:PIRSF500185,Superfamily_domains:SSF57440,Prints_domain:PR00018	.	.	ENSP00000414287	.	7/18	.	.	.	.	.	.	.	.	.	7/18	nonpreferredpair	ENST00000449682	Transcript	.	.	ENSG00000173531	7380	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	.	MST1	HGNC	G3XAK1_HUMAN	.	UPI0000EE2A31	SNV	MST1,missense_variant,p.Tyr253His,ENST00000449682,;MST1,missense_variant,p.Tyr178His,ENST00000383728,;MST1,3_prime_UTR_variant,,ENST00000545762,;APEH,downstream_gene_variant,,ENST00000296456,;APEH,downstream_gene_variant,,ENST00000438011,;RNF123,upstream_gene_variant,,ENST00000454491,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000327697,;RNF123,upstream_gene_variant,,ENST00000432042,;MST1,non_coding_transcript_exon_variant,,ENST00000494828,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,non_coding_transcript_exon_variant,,ENST00000494809,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000492370,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000484269,;MST1,non_coding_transcript_exon_variant,,ENST00000489007,;MST1,non_coding_transcript_exon_variant,,ENST00000497359,;MST1,non_coding_transcript_exon_variant,,ENST00000484673,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;APEH,downstream_gene_variant,,ENST00000480772,;APEH,downstream_gene_variant,,ENST00000469362,;RNF123,upstream_gene_variant,,ENST00000443204,;MST1,upstream_gene_variant,,ENST00000484144,;RNF123,upstream_gene_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000487805,;AC099668.5,upstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,upstream_gene_variant,,ENST00000498021,;MST1,upstream_gene_variant,,ENST00000481930,;MST1,upstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,upstream_gene_variant,,ENST00000493836,;MST1,upstream_gene_variant,,ENST00000480268,;RNF123,upstream_gene_variant,,ENST00000457726,;	1119	222	243	SUCCESS
GNAI2	2771	.	GRCh37	3	50273847	50273847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	69	0	ENST00000313601.6:c.80G>T	p.Gly27Val	p.G27V	ENST00000313601	NM_002070.2	27	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2813.1	80	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGGAGAGA	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF73,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275	.	.	ENSP00000312999	.	1/9	.	.	.	.	.	.	.	.	.	1/9	nonpreferredpair	ENST00000313601	Transcript	.	.	ENSG00000114353	4385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.05)	.	GNAI2_HUMAN	GNAI2	HGNC	Q93020_HUMAN,Q6LCB5_HUMAN,F5GZL8_HUMAN,B4E2X5_HUMAN	.	UPI000000124B	SNV	GNAI2,missense_variant,p.Gly27Val,ENST00000313601,;GNAI2,5_prime_UTR_variant,,ENST00000536647,;GNAI2,intron_variant,,ENST00000422163,;GNAI2,upstream_gene_variant,,ENST00000440628,;GNAI2,intron_variant,,ENST00000491100,;GNAI2,downstream_gene_variant,,ENST00000480090,;GNAI2,missense_variant,p.Gly27Val,ENST00000441156,;GNAI2,intron_variant,,ENST00000446079,;U73169.1,upstream_gene_variant,,ENST00000395152,;	464	69	104	SUCCESS
CACNA2D2	9254	.	GRCh37	3	50415488	50415488	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	29	97	0	ENST00000479441.1:c.1430G>A	p.Gly477Asp	p.G477D	ENST00000479441		477	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS54588.1	1430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCTGCC	NONE	.	.	hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166	.	.	ENSP00000418081	.	15/39	.	.	.	.	.	.	.	.	.	15/39	nonpreferredpair	ENST00000479441	Transcript	.	.	ENSG00000007402	1400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.2)	.	CA2D2_HUMAN	CACNA2D2	HGNC	.	.	UPI0000E5A6AF	SNV	CACNA2D2,missense_variant,p.Gly408Asp,ENST00000360963,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000435965,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000266039,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000429770,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000424201,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000423994,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000479441,;CACNA2D2,missense_variant,p.Gly477Asp,ENST00000395083,;	1430	97	121	SUCCESS
PDZRN3	23024	.	GRCh37	3	73437175	73437175	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373968116	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	17	0	ENST00000263666.4:c.1462C>A	p.Leu488Ile	p.L488I	ENST00000263666	NM_015009.1	488	Cta/Ata	0	A:0	.	.	.	.	T	L/I	protein_coding	YES	CCDS33789.1	1462	RADIA|MUTECT|MUSE	.	GGTTAGAAGAG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	A:0.0001	ENSP00000263666	.	8/10	.	.	.	.	.	.	.	.	rs373968116	8/10	nonpreferredpair	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Leu145Ile,ENST00000466780,;PDZRN3,missense_variant,p.Leu488Ile,ENST00000263666,;PDZRN3,missense_variant,p.Leu85Ile,ENST00000494559,;PDZRN3,missense_variant,p.Leu145Ile,ENST00000462146,;PDZRN3,missense_variant,p.Leu205Ile,ENST00000479530,;PDZRN3,missense_variant,p.Leu210Ile,ENST00000535920,;PDZRN3,missense_variant,p.Leu186Ile,ENST00000492909,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000498048,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000484487,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000477434,;	1577	17	11	SUCCESS
GRM7	2917	.	GRCh37	3	7620716	7620716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	87	385	0	ENST00000357716.4:c.2123G>T	p.Ser708Ile	p.S708I	ENST00000357716	NM_000844.3	708	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS43042.1	2123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGTTTAA	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	.	.	ENSP00000350348	.	8/10	.	.	.	.	.	.	.	.	.	8/10	nonpreferredpair	ENST00000357716	Transcript	.	.	ENSG00000196277	4599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.16)	.	GRM7_HUMAN	GRM7	HGNC	C9JU97_HUMAN	.	UPI000004A7E3	SNV	GRM7,missense_variant,p.Ser708Ile,ENST00000402647,;GRM7,missense_variant,p.Ser708Ile,ENST00000486284,;GRM7,missense_variant,p.Ser708Ile,ENST00000389336,;GRM7,missense_variant,p.Ser708Ile,ENST00000357716,;GRM7,missense_variant,p.Ser708Ile,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Ser708Ile,ENST00000389335,;GRM7,missense_variant,p.Ser708Ile,ENST00000467425,;GRM7,missense_variant,p.Ser708Ile,ENST00000440923,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	2397	385	292	SUCCESS
TBC1D9	23158	.	GRCh37	4	141543975	141543975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	29	0	ENST00000442267.2:c.3175C>T	p.Leu1059Phe	p.L1059F	ENST00000442267	NM_015130.2	1059	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS47136.1	3175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGGCTGG	NONE	.	.	hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957	.	.	ENSP00000411197	.	21/21	.	.	.	.	.	.	.	.	.	21/21	nonpreferredpair	ENST00000442267	Transcript	.	.	ENSG00000109436	21710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TBCD9_HUMAN	TBC1D9	HGNC	.	.	UPI00001C1E18	SNV	TBC1D9,missense_variant,p.Leu1059Phe,ENST00000442267,;	3250	29	37	SUCCESS
ARFIP1	27236	.	GRCh37	4	153750843	153750843	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	102	0	ENST00000353617.2:c.58G>A	p.Glu20Lys	p.E20K	ENST00000353617	NM_001025593.1	20	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34080.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGAGAAGTT	NONE	.	.	hmmpanther:PTHR12141:SF4,hmmpanther:PTHR12141	.	.	ENSP00000395083	.	2/9	.	.	.	.	.	.	.	.	COSM1052168,COSM1052169	2/9	nonpreferredpair	ENST00000451320	Transcript	.	.	ENSG00000164144	21496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.06)	.	deleterious_low_confidence(0.01)	1,1	ARFP1_HUMAN	ARFIP1	HGNC	B7ZA10_HUMAN,B4E273_HUMAN	.	UPI0000125668	SNV	ARFIP1,missense_variant,p.Glu20Lys,ENST00000451320,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000356064,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000429148,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000405727,;ARFIP1,missense_variant,p.Glu20Lys,ENST00000353617,;	222	102	37	SUCCESS
KLHL2	11275	.	GRCh37	4	166220662	166220662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	58	0	ENST00000226725.6:c.775G>T	p.Val259Phe	p.V259F	ENST00000226725	NM_007246.3	259	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS54815.1	787	RADIA|MUSE	.	AGAGGGTTGAA	NONE	.	.	SMART_domains:SM00875,PIRSF_domain:PIRSF037037,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412	.	.	ENSP00000424198	.	8/15	.	.	.	.	.	.	.	.	.	8/15	nonpreferredpair	ENST00000514860	Transcript	.	.	ENSG00000109466	6353	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,missense_variant,p.Val263Phe,ENST00000514860,;KLHL2,missense_variant,p.Val93Phe,ENST00000506761,;KLHL2,missense_variant,p.Val259Phe,ENST00000226725,;KLHL2,missense_variant,p.Val171Phe,ENST00000538127,;KLHL2,missense_variant,p.Val162Phe,ENST00000421009,;KLHL2,non_coding_transcript_exon_variant,,ENST00000509028,;KLHL2,non_coding_transcript_exon_variant,,ENST00000506541,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	1037	58	39	SUCCESS
DOK7	285489	.	GRCh37	4	3494504	3494504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	8	172	0	ENST00000340083.5:c.791C>T	p.Ser264Phe	p.S264F	ENST00000340083	NM_173660.4	264	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS3370.2	791	MUTECT|MUSE	.	CCTGTCCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21636,hmmpanther:PTHR21636:SF2	.	.	ENSP00000344432	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000340083	Transcript	1	.	ENSG00000175920	26594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	DOK7_HUMAN	DOK7	HGNC	.	.	UPI0000DA4A17	SNV	DOK7,missense_variant,p.Ser264Phe,ENST00000389653,;DOK7,missense_variant,p.Ser264Phe,ENST00000340083,;DOK7,3_prime_UTR_variant,,ENST00000507039,;DOK7,non_coding_transcript_exon_variant,,ENST00000503688,;DOK7,upstream_gene_variant,,ENST00000512714,;DOK7,non_coding_transcript_exon_variant,,ENST00000515886,;DOK7,non_coding_transcript_exon_variant,,ENST00000513995,;	856	172	222	SUCCESS
TLR1	7096	.	GRCh37	4	38799346	38799346	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	31	0	ENST00000308979.2:c.1107G>A	p.Gly369=	p.G369=	ENST00000308979	NM_003263.3	369	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS33973.1	1107	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCCCACA	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52058	.	.	ENSP00000354932	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000308979	Transcript	1	.	ENSG00000174125	11847	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TLR1_HUMAN	TLR1	HGNC	Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN	.	UPI000013EDFA	SNV	TLR1,synonymous_variant,p.%3D,ENST00000308979,;TLR1,synonymous_variant,p.%3D,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,intron_variant,,ENST00000505744,;TLR1,downstream_gene_variant,,ENST00000508535,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;	1381	31	29	SUCCESS
IBSP	3381	.	GRCh37	4	88732684	88732684	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	71	262	0	ENST00000226284.5:c.576C>T	p.Ser192=	p.S192=	ENST00000226284	NM_004967.3	192	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3624.1	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCAGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10345:SF0,hmmpanther:PTHR10345,Pfam_domain:PF05432	.	.	ENSP00000226284	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000226284	Transcript	.	.	ENSG00000029559	5341	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAL_HUMAN	IBSP	HGNC	.	.	UPI000013C899	SNV	IBSP,synonymous_variant,p.%3D,ENST00000226284,;	643	262	215	SUCCESS
PYURF	100996939	.	GRCh37	4	89443178	89443178	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	64	0	ENST00000273968.4:c.206A>G	p.Tyr69Cys	p.Y69C	ENST00000273968	NM_001042616.2	69	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS3631.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATATCTG	NONE	.	.	Gene3D:2.20.25.10,Pfam_domain:PF03966,Superfamily_domains:SSF158997	.	.	ENSP00000273968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000273968	Transcript	.	.	ENSG00000145337	44317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	PREY_HUMAN	PYURF	HGNC	.	.	UPI0000070EC8	SNV	PYURF,missense_variant,p.Tyr69Cys,ENST00000273968,;HERC3,upstream_gene_variant,,ENST00000513325,;PIGY,upstream_gene_variant,,ENST00000527353,;HERC3,non_coding_transcript_exon_variant,,ENST00000601319,;HERC3,upstream_gene_variant,,ENST00000597259,;HERC3,upstream_gene_variant,,ENST00000598772,;	319	64	46	SUCCESS
PPIP5K2	23262	.	GRCh37	5	102469329	102469329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	46	0	ENST00000358359.3:c.287G>T	p.Cys96Phe	p.C96F	ENST00000358359	NM_001281471.1	96	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS34207.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTGTCTTA	NONE	.	.	hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750	.	.	ENSP00000313070	.	3/30	.	.	.	.	.	.	.	.	.	3/30	nonpreferredpair	ENST00000321521	Transcript	.	.	ENSG00000145725	29035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	deleterious(0)	.	VIP2_HUMAN	PPIP5K2	HGNC	K7EPT7_HUMAN,D6RFG4_HUMAN	.	UPI000006E414	SNV	PPIP5K2,missense_variant,p.Cys96Phe,ENST00000414217,;PPIP5K2,missense_variant,p.Cys26Phe,ENST00000507310,;PPIP5K2,missense_variant,p.Cys96Phe,ENST00000321521,;PPIP5K2,missense_variant,p.Cys96Phe,ENST00000358359,;PPIP5K2,intron_variant,,ENST00000507921,;PPIP5K2,intron_variant,,ENST00000502481,;PPIP5K2,downstream_gene_variant,,ENST00000515845,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;PPIP5K2,intron_variant,,ENST00000504275,;	860	46	35	SUCCESS
PCDHB11	56125	.	GRCh37	5	140579644	140579644	+	synonymous_variant	Silent	SNP	C	C	T	rs377046428	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	83	0	ENST00000354757.3:c.297C>T	p.Ile99=	p.I99=	ENST00000354757	NM_018931.2	99	atC/atT	0	T:0	.	.	.	.	T	I	protein_coding	YES	CCDS4253.1	297	MUTECT|MUSE	.	TCCATCGAGCC	NONE	byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF91,hmmpanther:PTHR24028,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	T:0.0001	ENSP00000346802	.	1/1	.	.	.	.	.	.	.	.	rs377046428,COSM283814	1/1	nonpreferredpair	ENST00000354757	Transcript	.	.	ENSG00000197479	8682	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	PCDBB_HUMAN	PCDHB11	HGNC	B4DSF7_HUMAN	.	UPI00001273E6	SNV	PCDHB11,synonymous_variant,p.%3D,ENST00000354757,;PCDHB11,intron_variant,,ENST00000536699,;PCDHB10,downstream_gene_variant,,ENST00000239446,;	297	83	83	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159781851	159781851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	55	0	ENST00000393975.3:c.303G>A	p.Met101Ile	p.M101I	ENST00000393975	NM_031908.4	101	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4351.2	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCATTCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF8	.	.	ENSP00000377545	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.27)	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,missense_variant,p.Met101Ile,ENST00000393975,;	307	55	75	SUCCESS
TRIM41	90933	.	GRCh37	5	180651721	180651721	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	14	207	1	ENST00000315073.5:c.722A>G	p.Asp241Gly	p.D241G	ENST00000315073	NM_033549.4	241	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS4466.1	722	MUTECT|MUSE	.	GGTAGACGAAG	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000320869	.	1/6	.	.	.	.	.	.	.	.	.	1/6	nonpreferredpair	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,missense_variant,p.Asp241Gly,ENST00000351937,;TRIM41,missense_variant,p.Asp241Gly,ENST00000315073,;TRIM41,intron_variant,,ENST00000515499,;MIR4638,upstream_gene_variant,,ENST00000581158,;CTC-338M12.7,non_coding_transcript_exon_variant,,ENST00000499096,;TRIM41,missense_variant,p.Asp222Gly,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515834,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;	1432	208	211	SUCCESS
EGFLAM	133584	.	GRCh37	5	38438416	38438416	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs143262017	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	144	216	0	ENST00000354891.3:c.2323T>G	p.Phe775Val	p.F775V	ENST00000354891	NM_001205301.1	775	Ttc/Gtc	0	G:0.0002	.	.	.	.	G	F/V	protein_coding	YES	CCDS56363.1	2323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACTTCACC	NONE	byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	G:0	ENSP00000346964	.	17/23	.	.	.	.	.	.	.	.	rs143262017,COSM3855149,COSM3855148	17/23	nonpreferredpair	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.066)	.	tolerated(0.31)	0,1,1	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,missense_variant,p.Phe541Val,ENST00000336740,;EGFLAM,missense_variant,p.Phe775Val,ENST00000354891,;EGFLAM,missense_variant,p.Phe141Val,ENST00000397202,;EGFLAM,missense_variant,p.Phe775Val,ENST00000322350,;	2669	217	250	SUCCESS
TTC33	23548	.	GRCh37	5	40716358	40716358	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	72	0	ENST00000337702.4:c.678A>T	p.Ser226=	p.S226=	ENST00000337702	NM_012382.2	226	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3931.1	678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTGAAAC	NONE	.	.	hmmpanther:PTHR15544:SF0,hmmpanther:PTHR15544	.	.	ENSP00000338533	.	5/5	.	.	.	.	.	.	.	.	COSM3855264	5/5	nonpreferredpair	ENST00000337702	Transcript	.	.	ENSG00000113638	29959	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TTC33_HUMAN	TTC33	HGNC	.	.	UPI000006D413	SNV	TTC33,synonymous_variant,p.%3D,ENST00000337702,;TTC33,non_coding_transcript_exon_variant,,ENST00000511730,;TTC33,non_coding_transcript_exon_variant,,ENST00000504251,;TTC33,non_coding_transcript_exon_variant,,ENST00000503936,;	831	72	85	SUCCESS
CHD1	1105	.	GRCh37	5	98229285	98229285	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	3	113	0	ENST00000284049.3:c.1826C>T	p.Ala609Val	p.A609V	ENST00000284049	NM_001270.2	609	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34204.1	1826	MUTECT|MUSE	.	TAAATGCCCAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192	.	.	ENSP00000284049	.	13/35	.	.	.	.	.	.	.	.	.	13/35	nonpreferredpair	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Ala609Val,ENST00000284049,;RNU6-402P,downstream_gene_variant,,ENST00000410678,;	1976	113	62	SUCCESS
CHD1	1105	.	GRCh37	5	98229286	98229286	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	3	113	0	ENST00000284049.3:c.1825G>T	p.Ala609Ser	p.A609S	ENST00000284049	NM_001270.2	609	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34204.1	1825	MUTECT|MUSE	.	AAATGCCCAAT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192	.	.	ENSP00000284049	.	13/35	.	.	.	.	.	.	.	.	.	13/35	nonpreferredpair	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.916)	.	deleterious(0.02)	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,missense_variant,p.Ala609Ser,ENST00000284049,;RNU6-402P,downstream_gene_variant,,ENST00000410678,;	1975	113	61	SUCCESS
KIAA0408	9729	.	GRCh37	6	127768213	127768213	+	synonymous_variant	Silent	SNP	C	C	T	rs774400628	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	39	0	ENST00000483725.3:c.1251G>A	p.Glu417=	p.E417=	ENST00000483725	NM_014702.4	417	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34531.1	1251	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTCTCTGC	NONE	.	.	hmmpanther:PTHR15705	.	.	ENSP00000435150	.	5/6	.	.	.	.	.	.	.	.	rs774400628	5/6	nonpreferredpair	ENST00000483725	Transcript	.	.	ENSG00000189367	21636	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K0408_HUMAN	KIAA0408	HGNC	.	.	UPI00001C0BD7	SNV	KIAA0408,synonymous_variant,p.%3D,ENST00000465254,;KIAA0408,synonymous_variant,p.%3D,ENST00000483725,;SOGA3,3_prime_UTR_variant,,ENST00000556132,;SOGA3,downstream_gene_variant,,ENST00000368268,;KIAA0408,downstream_gene_variant,,ENST00000487331,;SOGA3,3_prime_UTR_variant,,ENST00000473298,;SOGA3,3_prime_UTR_variant,,ENST00000481848,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000368281,;SOGA3,downstream_gene_variant,,ENST00000464495,;KIAA0408,downstream_gene_variant,,ENST00000472335,;	1588	39	32	SUCCESS
KIF25	3834	.	GRCh37	6	168439388	168439388	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	65	203	0	ENST00000354419.2:c.473A>G	p.Glu158Gly	p.E158G	ENST00000354419	NM_030615.2	158	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS5305.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGAGGTTG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF327,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000388878	.	6/10	.	.	.	.	.	.	.	.	.	6/10	nonpreferredpair	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.02)	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,missense_variant,p.Glu158Gly,ENST00000351261,;KIF25,missense_variant,p.Glu158Gly,ENST00000354419,;KIF25,missense_variant,p.Glu158Gly,ENST00000443060,;KIF25,downstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000504593,;	864	203	224	SUCCESS
VARS2	57176	.	GRCh37	6	30891005	30891005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	48	255	0	ENST00000321897.5:c.2310G>T	p.Glu770Asp	p.E770D	ENST00000321897		770	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS54980.1	2400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGGAGGT	NONE	.	.	Superfamily_domains:SSF47323,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00422,hmmpanther:PTHR11946:SF71,hmmpanther:PTHR11946	.	.	ENSP00000441000	.	24/30	.	.	.	.	.	.	.	.	.	24/30	nonpreferredpair	ENST00000541562	Transcript	.	.	ENSG00000137411	21642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.29)	.	SYVM_HUMAN	VARS2	HGNC	B7ZCJ6_HUMAN,A2ABL6_HUMAN	.	UPI0001BDAB0F	SNV	VARS2,missense_variant,p.Glu770Asp,ENST00000321897,;VARS2,missense_variant,p.Glu630Asp,ENST00000542001,;VARS2,missense_variant,p.Glu800Asp,ENST00000541562,;VARS2,missense_variant,p.Glu770Asp,ENST00000416670,;VARS2,non_coding_transcript_exon_variant,,ENST00000476162,;VARS2,non_coding_transcript_exon_variant,,ENST00000477052,;VARS2,non_coding_transcript_exon_variant,,ENST00000469358,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,non_coding_transcript_exon_variant,,ENST00000473916,;	2481	256	173	SUCCESS
VARS2	57176	.	GRCh37	6	30891006	30891006	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	48	254	0	ENST00000321897.5:c.2311G>T	p.Glu771Ter	p.E771*	ENST00000321897		771	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54980.1	2401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGAGGTA	NONE	.	.	Superfamily_domains:SSF47323,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00422,hmmpanther:PTHR11946:SF71,hmmpanther:PTHR11946	.	.	ENSP00000441000	.	24/30	.	.	.	.	.	.	.	.	.	24/30	nonpreferredpair	ENST00000541562	Transcript	.	.	ENSG00000137411	21642	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYVM_HUMAN	VARS2	HGNC	B7ZCJ6_HUMAN,A2ABL6_HUMAN	.	UPI0001BDAB0F	SNV	VARS2,stop_gained,p.Glu771Ter,ENST00000321897,;VARS2,stop_gained,p.Glu631Ter,ENST00000542001,;VARS2,stop_gained,p.Glu801Ter,ENST00000541562,;VARS2,stop_gained,p.Glu771Ter,ENST00000416670,;VARS2,splice_region_variant,,ENST00000476162,;VARS2,splice_region_variant,,ENST00000477052,;VARS2,splice_region_variant,,ENST00000469358,;VARS2,splice_region_variant,,ENST00000477288,;VARS2,splice_region_variant,,ENST00000473916,;	2482	254	172	SUCCESS
AGPAT1	10554	.	GRCh37	6	32138303	32138303	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	32	80	0	ENST00000336984.6:c.409C>T	p.Leu137=	p.L137=	ENST00000336984	NM_032741.4	137	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4744.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCCCGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF1,Pfam_domain:PF01553,Gene3D:1iuqA02,TIGRFAM_domain:TIGR00530,SMART_domains:SM00563,Superfamily_domains:0039877	.	.	ENSP00000378877	.	4/7	.	.	.	.	.	.	.	.	.	4/7	nonpreferredpair	ENST00000395499	Transcript	.	.	ENSG00000204310	324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCA_HUMAN	AGPAT1	HGNC	Q9HBM8_HUMAN,Q71VH6_HUMAN	.	UPI0000131BD2	SNV	AGPAT1,synonymous_variant,p.%3D,ENST00000395496,;AGPAT1,synonymous_variant,p.%3D,ENST00000375107,;AGPAT1,synonymous_variant,p.%3D,ENST00000395499,;AGPAT1,synonymous_variant,p.%3D,ENST00000375104,;AGPAT1,synonymous_variant,p.%3D,ENST00000395497,;AGPAT1,synonymous_variant,p.%3D,ENST00000336984,;AGPAT1,synonymous_variant,p.%3D,ENST00000412465,;EGFL8,downstream_gene_variant,,ENST00000395512,;EGFL8,downstream_gene_variant,,ENST00000333845,;EGFL8,downstream_gene_variant,,ENST00000432129,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;AGPAT1,non_coding_transcript_exon_variant,,ENST00000476663,;AGPAT1,intron_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,downstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;EGFL8,downstream_gene_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;EGFL8,downstream_gene_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;	989	80	113	SUCCESS
FGD2	221472	.	GRCh37	6	36979514	36979514	+	synonymous_variant	Silent	SNP	C	C	T	rs760274038	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	138	0	ENST00000274963.8:c.411C>T	p.Arg137=	p.R137=	ENST00000274963	NM_173558.3	137	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4829.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCAGCAG	NONE	byFrequency	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF82,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000274963	.	4/16	.	.	.	.	.	.	.	.	rs760274038	4/16	nonpreferredpair	ENST00000274963	Transcript	.	.	ENSG00000146192	3664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGD2_HUMAN	FGD2	HGNC	.	.	UPI00001A9477	SNV	FGD2,synonymous_variant,p.%3D,ENST00000274963,;FGD2,non_coding_transcript_exon_variant,,ENST00000459781,;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,;FGD2,intron_variant,,ENST00000373535,;FGD2,upstream_gene_variant,,ENST00000494343,;FGD2,downstream_gene_variant,,ENST00000497659,;FGD2,upstream_gene_variant,,ENST00000493635,;FGD2,downstream_gene_variant,,ENST00000487975,;FGD2,upstream_gene_variant,,ENST00000470273,;FGD2,downstream_gene_variant,,ENST00000489356,;	582	139	135	SUCCESS
FOXP4	116113	.	GRCh37	6	41566660	41566660	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	80	240	1	ENST00000307972.4:c.2029G>A	p.Glu677Lys	p.E677K	ENST00000307972		677	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34447.1	2029	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGAAGAA	NONE	.	.	hmmpanther:PTHR25042:SF13,hmmpanther:PTHR25042,Low_complexity_(Seg):seg	.	.	ENSP00000362151	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000373060	Transcript	.	.	ENSG00000137166	20842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	FOXP4_HUMAN	FOXP4	HGNC	Q8N4A5_HUMAN,Q69YN9_HUMAN	.	UPI000007462D	SNV	FOXP4,missense_variant,p.Glu664Lys,ENST00000373063,;FOXP4,missense_variant,p.Glu677Lys,ENST00000307972,;FOXP4,missense_variant,p.Glu665Lys,ENST00000409208,;FOXP4,missense_variant,p.Glu675Lys,ENST00000373057,;FOXP4,missense_variant,p.Glu677Lys,ENST00000373060,;MIR4641,downstream_gene_variant,,ENST00000578353,;	2487	241	235	SUCCESS
LGSN	51557	.	GRCh37	6	63990465	63990465	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	64	0	ENST00000370657.4:c.991A>G	p.Thr331Ala	p.T331A	ENST00000370657		331	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS4964.1	991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGTGCTGC	NONE	.	.	Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.24)	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	SNV	LGSN,missense_variant,p.Thr331Ala,ENST00000370657,;LGSN,synonymous_variant,p.%3D,ENST00000370658,;LGSN,intron_variant,,ENST00000485906,;	1025	64	48	SUCCESS
PGM3	5238	.	GRCh37	6	83888466	83888466	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	89	0	ENST00000513973.1:c.955A>C	p.Ser319Arg	p.S319R	ENST00000513973	NM_001199918.1	319	Agt/Cgt	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS56436.1	1039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTTTCTC	NONE	.	.	hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF15,Gene3D:3.40.120.10,PIRSF_domain:PIRSF016408,Superfamily_domains:SSF53738	.	.	ENSP00000425809	.	9/14	.	.	.	.	.	.	.	.	.	9/14	nonpreferredpair	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.11)	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,missense_variant,p.Ser319Arg,ENST00000512866,;PGM3,missense_variant,p.Ser319Arg,ENST00000513973,;PGM3,missense_variant,p.Ser238Arg,ENST00000283977,;PGM3,missense_variant,p.Ser347Arg,ENST00000506587,;PGM3,upstream_gene_variant,,ENST00000509219,;PGM3,downstream_gene_variant,,ENST00000510258,;PGM3,downstream_gene_variant,,ENST00000505470,;PGM3,upstream_gene_variant,,ENST00000507404,;	1186	89	78	SUCCESS
PLXNA4	91584	.	GRCh37	7	131833385	131833385	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	42	138	0	ENST00000321063.4:c.4681G>A	p.Ala1561Thr	p.A1561T	ENST00000321063	NM_020911.1	1561	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS43646.1	4681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCCCAC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Pfam_domain:PF08337,Gene3D:3.10.20.90	.	.	ENSP00000352882	.	26/32	.	.	.	.	.	.	.	.	COSM1548217,COSM1548216	26/32	nonpreferredpair	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.266)	.	tolerated(0.27)	1,1	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,missense_variant,p.Ala1561Thr,ENST00000321063,;PLXNA4,missense_variant,p.Ala1561Thr,ENST00000359827,;PLXNA4,upstream_gene_variant,,ENST00000496550,;	5644	138	137	SUCCESS
FAM126A	84668	.	GRCh37	7	23053624	23053624	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	77	0	ENST00000432176.2:c.-109G>A		p.*37*	ENST00000432176	NM_032581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5377.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCTCCCG	NONE	.	.	.	.	.	ENSP00000403396	.	1/11	.	.	.	.	.	.	.	.	.	1/11	nonpreferredpair	ENST00000432176	Transcript	.	.	ENSG00000122591	24587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYCCI_HUMAN	FAM126A	HGNC	.	.	UPI000006FF45	SNV	FAM126A,missense_variant,p.Gly43Arg,ENST00000440481,;FAM126A,5_prime_UTR_variant,,ENST00000409763,;FAM126A,5_prime_UTR_variant,,ENST00000432176,;FAM126A,5_prime_UTR_variant,,ENST00000409923,;FAM126A,non_coding_transcript_exon_variant,,ENST00000465661,;FAM126A,non_coding_transcript_exon_variant,,ENST00000477349,;FAM126A,non_coding_transcript_exon_variant,,ENST00000467005,;	125	77	85	SUCCESS
AOAH	313	.	GRCh37	7	36571897	36571897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	50	193	0	ENST00000258749.5:c.1360C>A	p.Leu454Ile	p.L454I	ENST00000258749	NM_001637.3	454	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS5448.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGGCAGT	NONE	.	.	hmmpanther:PTHR15010,Pfam_domain:PF00657	.	.	ENSP00000258749	.	17/21	.	.	.	.	.	.	.	.	.	17/21	nonpreferredpair	ENST00000258749	Transcript	.	.	ENSG00000136250	548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.724)	.	tolerated(0.07)	.	AOAH_HUMAN	AOAH	HGNC	.	.	UPI0000001291	SNV	AOAH,missense_variant,p.Leu422Ile,ENST00000535891,;AOAH,missense_variant,p.Leu176Ile,ENST00000538464,;AOAH,missense_variant,p.Leu454Ile,ENST00000431169,;AOAH,missense_variant,p.Leu454Ile,ENST00000258749,;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;	1760	193	158	SUCCESS
ABCA13	154664	.	GRCh37	7	48619929	48619929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	84	0	ENST00000435803.1:c.14464T>A	p.Tyr4822Asn	p.Y4822N	ENST00000435803	NM_152701.3	4822	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS47584.1	14464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATTACTGT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	56/62	.	.	.	.	.	.	.	.	.	56/62	nonpreferredpair	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Tyr4822Asn,ENST00000435803,;ABCA13,missense_variant,p.Tyr552Asn,ENST00000544596,;ABCA13,missense_variant,p.Tyr595Asn,ENST00000411975,;ABCA13,missense_variant,p.Tyr1088Asn,ENST00000453246,;	14488	84	57	SUCCESS
ZDHHC4	55146	.	GRCh37	7	6621814	6621814	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs183719718	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	55	206	0	ENST00000335965.6:c.303del	p.Leu102PhefsTer7	p.L102Ffs*7	ENST00000335965		101	cTt/ct	0	G:0.0005	G:0.0015	.	G:0	.	-	L/X	protein_coding	YES	CCDS5352.1	302	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTACCTTCTTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF47	G:0	G:0	ENSP00000379934	G:0	5/8	.	.	.	.	.	.	.	.	rs183719718	5/8	nonpreferredpair	ENST00000396706	Transcript	.	G:0.0004	ENSG00000136247	18471	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	ZDHC4_HUMAN	ZDHHC4	HGNC	C9J5I9_HUMAN	.	UPI0000048F5A	deletion	ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396707,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396709,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396706,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000483589,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000335965,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000396713,;ZDHHC4,frameshift_variant,p.Leu102PhefsTer7,ENST00000405731,;AC079742.4,intron_variant,,ENST00000434951,;ZDHHC4,downstream_gene_variant,,ENST00000496017,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000493944,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000474097,;ZDHHC4,downstream_gene_variant,,ENST00000489138,;ZDHHC4,upstream_gene_variant,,ENST00000474738,;	745	206	211	SUCCESS
SAMD9L	219285	.	GRCh37	7	92764969	92764969	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	98	0	ENST00000318238.4:c.316C>T	p.His106Tyr	p.H106Y	ENST00000318238	NM_152703.2	106	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS34681.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTGTTTTG	NONE	.	.	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	.	.	ENSP00000326247	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000318238	Transcript	.	.	ENSG00000177409	1349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	SAM9L_HUMAN	SAMD9L	HGNC	B4E3M1_HUMAN	.	UPI000020F567	SNV	SAMD9L,missense_variant,p.His106Tyr,ENST00000318238,;SAMD9L,missense_variant,p.His106Tyr,ENST00000437805,;SAMD9L,missense_variant,p.His106Tyr,ENST00000411955,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;	1533	98	78	SUCCESS
SLC25A13	10165	.	GRCh37	7	95838258	95838258	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	33	75	0	ENST00000265631.5:c.360A>G	p.Thr120=	p.T120=	ENST00000265631		120	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS55130.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATTGTGGT	NONE	.	.	PROSITE_profiles:PS50222,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000400101	.	5/18	.	.	.	.	.	.	.	.	.	5/18	nonpreferredpair	ENST00000416240	Transcript	.	.	ENSG00000004864	10983	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMC2_HUMAN	SLC25A13	HGNC	Q75KX8_HUMAN	.	UPI0000001663	SNV	SLC25A13,synonymous_variant,p.%3D,ENST00000265631,;SLC25A13,synonymous_variant,p.%3D,ENST00000542654,;SLC25A13,synonymous_variant,p.%3D,ENST00000416240,;SLC25A13,3_prime_UTR_variant,,ENST00000472162,;	551	75	57	SUCCESS
LRP12	29967	.	GRCh37	8	105544164	105544164	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	37	168	0	ENST00000276654.5:c.107A>T	p.Glu36Val	p.E36V	ENST00000276654	NM_013437.4	36	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6303.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTCAGAA	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216	.	.	ENSP00000276654	.	2/7	.	.	.	.	.	.	.	.	.	2/7	nonpreferredpair	ENST00000276654	Transcript	.	.	ENSG00000147650	31708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious_low_confidence(0.01)	.	LRP12_HUMAN	LRP12	HGNC	E5RIW8_HUMAN,B3KWZ8_HUMAN	.	UPI0000047A9F	SNV	LRP12,missense_variant,p.Glu36Val,ENST00000276654,;LRP12,intron_variant,,ENST00000424843,;LRP12,intron_variant,,ENST00000520770,;LRP12,intron_variant,,ENST00000519675,;	216	168	93	SUCCESS
NRG1	3084	.	GRCh37	8	32621590	32621590	+	synonymous_variant	Silent	SNP	C	C	T	rs576124928	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	120	0	ENST00000405005.3:c.1593C>T	p.Tyr531=	p.Y531=	ENST00000405005		531	taC/taT	0	.	T:0.0008	.	T:0	.	T	Y	protein_coding	YES	CCDS6083.1	1608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTACGAGCC	NONE	by1000G	.	Low_complexity_(Seg):seg,Pfam_domain:PF02158,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7	T:0	.	ENSP00000349275	T:0	13/13	.	.	.	.	.	.	.	.	rs576124928	13/13	nonpreferredpair	ENST00000356819	Transcript	.	T:0.0002	ENSG00000157168	7997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NRG1_HUMAN	NRG1	HGNC	Q7RTW5_HUMAN,B7Z168_HUMAN	.	UPI000013DED7	SNV	NRG1,synonymous_variant,p.%3D,ENST00000338921,;NRG1,synonymous_variant,p.%3D,ENST00000287842,;NRG1,synonymous_variant,p.%3D,ENST00000539990,;NRG1,synonymous_variant,p.%3D,ENST00000519301,;NRG1,synonymous_variant,p.%3D,ENST00000356819,;NRG1,synonymous_variant,p.%3D,ENST00000523534,;NRG1,synonymous_variant,p.%3D,ENST00000405005,;NRG1,synonymous_variant,p.%3D,ENST00000287845,;NRG1,3_prime_UTR_variant,,ENST00000341377,;NRG1,downstream_gene_variant,,ENST00000523079,;NRG1,downstream_gene_variant,,ENST00000521670,;NRG1,downstream_gene_variant,,ENST00000518104,;RP11-1002K11.1,upstream_gene_variant,,ENST00000607314,;	2125	120	101	SUCCESS
PRDM14	63978	.	GRCh37	8	70981670	70981670	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	10	121	0	ENST00000276594.2:c.426G>A	p.Pro142=	p.P142=	ENST00000276594	NM_024504.3	142	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6206.1	426	MUTECT|MUSE|VARSCANS	.	CAACACGGGCC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354	.	.	ENSP00000276594	.	2/8	.	.	.	.	.	.	.	.	.	2/8	nonpreferredpair	ENST00000276594	Transcript	.	.	ENSG00000147596	14001	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRD14_HUMAN	PRDM14	HGNC	C9JMM8_HUMAN	.	UPI0000132186	SNV	PRDM14,synonymous_variant,p.%3D,ENST00000276594,;PRDM14,downstream_gene_variant,,ENST00000426346,;	628	121	126	SUCCESS
CCDC180	100499483	.	GRCh37	9	100105674	100105674	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs745550977	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	95	0	ENST00000375202.2:c.2459C>G	p.Ser820Cys	p.S820C	ENST00000375202		820	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS35077.2	2459	MUTECT|MUSE	.	GGAGTCCTTCA	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	33/51	.	.	.	.	.	.	.	.	rs745550977	33/51	nonpreferredpair	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.09)	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,missense_variant,p.Ser959Cys,ENST00000357054,;CCDC180,missense_variant,p.Ser820Cys,ENST00000375202,;CCDC180,missense_variant,p.Ser820Cys,ENST00000529487,;CCDC180,missense_variant,p.Ser817Cys,ENST00000411667,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;CCDC180,non_coding_transcript_exon_variant,,ENST00000528678,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;CCDC180,intron_variant,,ENST00000530011,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;	3811	95	94	SUCCESS
TGFBR1	7046	.	GRCh37	9	101908774	101908774	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746666082	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	68	0	ENST00000374994.4:c.1138G>A	p.Ala380Thr	p.A380T	ENST00000374994	NM_004612.2	380	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6738.1	1138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGCCCCT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF61,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000364133	.	7/9	.	.	.	.	.	.	.	.	rs746666082	7/9	nonpreferredpair	ENST00000374994	Transcript	.	.	ENSG00000106799	11772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TGFR1_HUMAN	TGFBR1	HGNC	Q5T7S2_HUMAN,F8VVC4_HUMAN,B4DY26_HUMAN	.	UPI000011D62A	SNV	TGFBR1,missense_variant,p.Ala311Thr,ENST00000550253,;TGFBR1,missense_variant,p.Ala384Thr,ENST00000552516,;TGFBR1,missense_variant,p.Ala303Thr,ENST00000374990,;TGFBR1,missense_variant,p.Ala380Thr,ENST00000374994,;RNA5SP290,upstream_gene_variant,,ENST00000517133,;TGFBR1,intron_variant,,ENST00000549766,;	1255	68	40	SUCCESS
CNTLN	54875	.	GRCh37	9	17394764	17394764	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	162	0	ENST00000380647.3:c.2312T>C	p.Val771Ala	p.V771A	ENST00000380647		771	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS43789.1	2312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGTCACTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0	.	.	ENSP00000370021	.	15/26	.	.	.	.	.	.	.	.	.	15/26	nonpreferredpair	ENST00000380647	Transcript	.	.	ENSG00000044459	23432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.36)	.	CNTLN_HUMAN	CNTLN	HGNC	.	.	UPI0000458809	SNV	CNTLN,missense_variant,p.Val771Ala,ENST00000425824,;CNTLN,missense_variant,p.Val771Ala,ENST00000262360,;CNTLN,missense_variant,p.Val771Ala,ENST00000380647,;	2396	162	89	SUCCESS
IFNE	338376	.	GRCh37	9	21481769	21481769	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	4	113	0	ENST00000448696.3:c.-76A>T		p.*26*	ENST00000448696	NM_176891.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34997.1	.	MUTECT|MUSE	.	TTTCATGCATC	NONE	.	.	.	.	.	ENSP00000418018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000448696	Transcript	.	.	ENSG00000184995	18163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFNE_HUMAN	IFNE	HGNC	.	.	UPI000000D8A7	SNV	IFNE,5_prime_UTR_variant,,ENST00000448696,;MIR31HG,intron_variant,,ENST00000304425,;	544	113	81	SUCCESS
SPATA31A6	389730	.	GRCh37	9	43625360	43625360	+	synonymous_variant	Silent	SNP	A	A	T	rs770557207	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	40	116	0	ENST00000332857.6:c.3327T>A	p.Ser1109=	p.S1109=	ENST00000332857	NM_001145196.1	1109	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS47973.1	3327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAGACTT	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000329825	.	4/4	.	.	.	.	.	.	.	.	rs770557207	4/4	nonpreferredpair	ENST00000332857	Transcript	.	.	ENSG00000185775	32006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S31A6_HUMAN	SPATA31A6	HGNC	.	.	UPI0000197F6E	SNV	SPATA31A6,synonymous_variant,p.%3D,ENST00000332857,;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	3356	116	78	SUCCESS
SMC5	23137	.	GRCh37	9	72874055	72874055	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	39	109	0	ENST00000361138.5:c.61C>G	p.Pro21Ala	p.P21A	ENST00000361138	NM_015110.3	21	Ccg/Gcg	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS6632.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCCGAGA	NONE	.	.	hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306	.	.	ENSP00000354957	.	1/25	.	.	.	.	.	.	.	.	.	1/25	nonpreferredpair	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.72)	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,missense_variant,p.Pro21Ala,ENST00000361138,;SMC5-AS1,upstream_gene_variant,,ENST00000594708,;	119	109	115	SUCCESS
FRMD3	257019	.	GRCh37	9	85863364	85863364	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	32	0	ENST00000304195.3:c.1263C>T	p.Ala421=	p.A421=	ENST00000304195	NM_001244960.1	421	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43840.1	1263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGGGCTGC	NONE	.	.	hmmpanther:PTHR23280:SF8,hmmpanther:PTHR23280	.	.	ENSP00000303508	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000304195	Transcript	.	.	ENSG00000172159	24125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRMD3_HUMAN	FRMD3	HGNC	.	.	UPI000066DA57	SNV	FRMD3,synonymous_variant,p.%3D,ENST00000304195,;FRMD3,synonymous_variant,p.%3D,ENST00000328788,;FRMD3,synonymous_variant,p.%3D,ENST00000376434,;FRMD3,synonymous_variant,p.%3D,ENST00000376438,;FRMD3,non_coding_transcript_exon_variant,,ENST00000465485,;	1470	32	36	SUCCESS
PLP1	5354	.	GRCh37	X	103042816	103042816	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	71	108	1	ENST00000418604.1:c.543G>T	p.Trp181Cys	p.W181C	ENST00000418604	NM_001128834.1	181	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS14513.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGACCAC	NONE	.	.	hmmpanther:PTHR11683:SF11,hmmpanther:PTHR11683,Pfam_domain:PF01275,SMART_domains:SM00002	.	.	ENSP00000405750	.	5/8	.	.	.	.	.	.	.	.	CM002828	5/8	nonpreferredpair	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	SNV	PLP1,missense_variant,p.Trp146Cys,ENST00000361621,;PLP1,missense_variant,p.Trp181Cys,ENST00000303958,;PLP1,missense_variant,p.Trp181Cys,ENST00000418604,;PLP1,downstream_gene_variant,,ENST00000455268,;PLP1,downstream_gene_variant,,ENST00000429977,;PLP1,downstream_gene_variant,,ENST00000434483,;PLP1,downstream_gene_variant,,ENST00000422393,;PLP1,downstream_gene_variant,,ENST00000443502,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000494119,;PLP1,non_coding_transcript_exon_variant,,ENST00000466486,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,downstream_gene_variant,,ENST00000485931,;PLP1,downstream_gene_variant,,ENST00000494475,;PLP1,downstream_gene_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000476160,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	823	109	106	SUCCESS
BCORL1	63035	.	GRCh37	X	129149866	129149866	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	76	109	0	ENST00000218147.7:c.3118C>G	p.Leu1040Val	p.L1040V	ENST00000218147		1040	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS14616.1	3118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCTTGGA	NONE	.	.	hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	3/12	.	.	.	.	.	.	.	.	.	3/12	nonpreferredpair	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.351)	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,missense_variant,p.Leu640Val,ENST00000456822,;BCORL1,missense_variant,p.Leu1040Val,ENST00000540052,;BCORL1,missense_variant,p.Leu1040Val,ENST00000303743,;BCORL1,missense_variant,p.Leu476Val,ENST00000441294,;BCORL1,missense_variant,p.Leu1040Val,ENST00000218147,;BCORL1,missense_variant,p.Leu1040Val,ENST00000359304,;BCORL1,downstream_gene_variant,,ENST00000488135,;	3162	109	120	SUCCESS
IGSF1	3547	.	GRCh37	X	130408573	130408573	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	47	0	ENST00000361420.3:c.3751G>A	p.Gly1251Arg	p.G1251R	ENST00000361420		1251	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS55491.1	3766	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACCTGCTG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF95	.	.	ENSP00000359940	.	18/20	.	.	.	.	.	.	.	.	COSM1115212	18/20	nonpreferredpair	ENST00000370903	Transcript	.	.	ENSG00000147255	5948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	tolerated(0.09)	1	IGSF1_HUMAN	IGSF1	HGNC	.	.	UPI0000E0C769	SNV	IGSF1,missense_variant,p.Gly1251Arg,ENST00000361420,;IGSF1,missense_variant,p.Gly1242Arg,ENST00000370904,;IGSF1,missense_variant,p.Gly1242Arg,ENST00000370910,;IGSF1,missense_variant,p.Gly1256Arg,ENST00000370903,;IGSF1,downstream_gene_variant,,ENST00000467244,;	4049	47	27	SUCCESS
SLC9A6	10479	.	GRCh37	X	135106598	135106598	+	synonymous_variant	Silent	SNP	A	A	G	rs891695661	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	48	133	1	ENST00000370698.3:c.1476A>G	p.Val492=	p.V492=	ENST00000370698	NM_006359.2	492	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44003.1	1572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTATTTGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF94,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	.	.	ENSP00000359729	.	12/16	.	.	.	.	.	.	.	.	.	12/16	nonpreferredpair	ENST00000370695	Transcript	.	.	ENSG00000198689	11079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9A6_HUMAN	SLC9A6	HGNC	Q8WYK8_HUMAN,B4DLY9_HUMAN,B4DK83_HUMAN	.	UPI0000062320	SNV	SLC9A6,synonymous_variant,p.%3D,ENST00000370695,;SLC9A6,synonymous_variant,p.%3D,ENST00000370698,;SLC9A6,synonymous_variant,p.%3D,ENST00000370701,;	1607	134	82	SUCCESS
GAB3	139716	.	GRCh37	X	153940659	153940659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	91	76	0	ENST00000369575.3:c.911C>T	p.Ser304Phe	p.S304F	ENST00000369575	NM_080612.2	304	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS48198.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGACATA	NONE	.	.	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF2	.	.	ENSP00000399588	.	4/10	.	.	.	.	.	.	.	.	.	4/10	nonpreferredpair	ENST00000424127	Transcript	.	.	ENSG00000160219	17515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.21)	.	GAB3_HUMAN	GAB3	HGNC	.	.	UPI0000F23D6F	SNV	GAB3,missense_variant,p.Ser305Phe,ENST00000424127,;GAB3,missense_variant,p.Ser304Phe,ENST00000369575,;GAB3,missense_variant,p.Ser305Phe,ENST00000369568,;GAB3,intron_variant,,ENST00000496390,;	966	76	123	SUCCESS
P2RY8	286530	.	GRCh37	X	1585347	1585347	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	39	57	0	ENST00000381297.4:c.105G>T	p.Ala35=	p.A35=	ENST00000381297	NM_178129.4	35	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14115.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCGCCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24232:SF25,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000370697	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000381297	Transcript	.	.	ENSG00000182162	15524	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY8_HUMAN	P2RY8	HGNC	.	.	UPI000000DA6D	SNV	P2RY8,synonymous_variant,p.%3D,ENST00000381297,;P2RY8,non_coding_transcript_exon_variant,,ENST00000460672,;	316	57	120	SUCCESS
CD99	4267	.	GRCh37	X	2645348	2645348	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	260	112	426	0	ENST00000381192.3:c.475+934T>G		p.*159*	ENST00000381192	NM_001277710.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14119.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTCTTTG	NONE	.	.	.	.	.	ENSP00000370588	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000381192	Transcript	.	.	ENSG00000002586	7082	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD99_HUMAN	CD99	HGNC	.	.	UPI0000000C42	SNV	CD99,missense_variant,p.Ser164Ala,ENST00000381184,;CD99,intron_variant,,ENST00000381187,;CD99,intron_variant,,ENST00000381192,;CD99,downstream_gene_variant,,ENST00000449611,;CD99,intron_variant,,ENST00000482405,;CD99,downstream_gene_variant,,ENST00000497752,;CD99,downstream_gene_variant,,ENST00000482293,;CD99,intron_variant,,ENST00000381177,;	.	426	373	SUCCESS
CLCN5	1184	.	GRCh37	X	49854827	49854827	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	27	47	0	ENST00000307367.2:c.1589G>T	p.Gly530Val	p.G530V	ENST00000307367		530	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS48115.1	1799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGTGGCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00762,Superfamily_domains:SSF81340,Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689	.	.	ENSP00000365256	.	13/15	.	.	.	.	.	.	.	.	.	13/15	nonpreferredpair	ENST00000376088	Transcript	.	.	ENSG00000171365	2023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLCN5_HUMAN	CLCN5	HGNC	.	.	UPI0000212052	SNV	CLCN5,missense_variant,p.Gly530Val,ENST00000307367,;CLCN5,missense_variant,p.Gly600Val,ENST00000376091,;CLCN5,missense_variant,p.Gly530Val,ENST00000376108,;CLCN5,missense_variant,p.Gly600Val,ENST00000376088,;	2440	47	47	SUCCESS
FAM46D	0	.	GRCh37	X	79698451	79698451	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	89	0	ENST00000538312.1:c.413G>A	p.Cys138Tyr	p.C138Y	ENST00000538312	NM_001170574.1	138	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS14446.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTGCAATG	NONE	.	.	Pfam_domain:PF07984,hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	COSM3721724	5/5	nonpreferredpair	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.589)	.	tolerated(0.37)	1	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,missense_variant,p.Cys138Tyr,ENST00000308293,;FAM46D,missense_variant,p.Cys138Tyr,ENST00000538312,;	747	89	42	SUCCESS
MGEA5	0	.	GRCh37	10	103560098	103560098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	58	0	ENST00000361464.3:c.1096G>A	p.Glu366Lys	p.E366K	ENST00000361464	NM_012215.3	366	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7520.1	1096	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCATCAC	NONE	.	.	hmmpanther:PTHR13170,hmmpanther:PTHR13170:SF16	.	.	ENSP00000354850	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000361464	Transcript	.	.	ENSG00000198408	7056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	tolerated(0.11)	.	NCOAT_HUMAN	MGEA5	HGNC	B3KMK2_HUMAN	.	UPI0000073533	SNV	MGEA5,missense_variant,p.Glu366Lys,ENST00000370094,;MGEA5,missense_variant,p.Glu366Lys,ENST00000361464,;MGEA5,intron_variant,,ENST00000357797,;MGEA5,intron_variant,,ENST00000439817,;MGEA5,downstream_gene_variant,,ENST00000429860,;MGEA5,upstream_gene_variant,,ENST00000479811,;MGEA5,upstream_gene_variant,,ENST00000482611,;	1492	58	55	SUCCESS
WDR96	0	.	GRCh37	10	105944833	105944833	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	77	0	ENST00000357060.3:c.2082T>G	p.Asp694Glu	p.D694E	ENST00000357060	NM_025145.5	694	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS31281.1	2082	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCATCCAT	NONE	.	.	hmmpanther:PTHR14885,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000349568	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,missense_variant,p.Asp625Glu,ENST00000278064,;WDR96,missense_variant,p.Asp695Glu,ENST00000428666,;WDR96,missense_variant,p.Asp694Glu,ENST00000357060,;WDR96,missense_variant,p.Asp55Glu,ENST00000434629,;	2198	77	81	SUCCESS
TACC2	10579	.	GRCh37	10	123844186	123844186	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	64	185	0	ENST00000334433.3:c.2171C>T	p.Pro724Leu	p.P724L	ENST00000334433		724	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS7626.1	2171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCACCAA	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,missense_variant,p.Pro724Leu,ENST00000369005,;TACC2,missense_variant,p.Pro724Leu,ENST00000453444,;TACC2,missense_variant,p.Pro724Leu,ENST00000334433,;TACC2,missense_variant,p.Pro724Leu,ENST00000515603,;TACC2,missense_variant,p.Pro724Leu,ENST00000515273,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	2511	185	165	SUCCESS
DMBT1	1755	.	GRCh37	10	124361605	124361605	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	23	0	ENST00000338354.3:c.3636C>T	p.Gly1212=	p.G1212=	ENST00000338354		1212	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS44490.1	3636	RADIA|VARSCANS	.	TGTGGCCATCA	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	29/53	.	.	.	.	.	.	.	.	.	29/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,synonymous_variant,p.%3D,ENST00000368956,;DMBT1,synonymous_variant,p.%3D,ENST00000330163,;DMBT1,synonymous_variant,p.%3D,ENST00000344338,;DMBT1,synonymous_variant,p.%3D,ENST00000368955,;DMBT1,synonymous_variant,p.%3D,ENST00000368909,;DMBT1,synonymous_variant,p.%3D,ENST00000338354,;DMBT1,intron_variant,,ENST00000359586,;	3742	23	24	SUCCESS
FBXO18	0	.	GRCh37	10	5965611	5965611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	83	0	ENST00000379999.5:c.2503A>T	p.Ile835Phe	p.I835F	ENST00000379999	NM_032807.4	835	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS7073.1	2503	MUTECT|MUSE	.	ACAGAATCATT	NONE	.	.	hmmpanther:PTHR11070:SF8,hmmpanther:PTHR11070,Superfamily_domains:SSF52540	.	.	ENSP00000369335	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.447)	.	deleterious(0.03)	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,missense_variant,p.Ile835Phe,ENST00000379999,;FBXO18,missense_variant,p.Ile271Phe,ENST00000397269,;FBXO18,missense_variant,p.Ile784Phe,ENST00000362091,;FBXO18,non_coding_transcript_exon_variant,,ENST00000475867,;FBXO18,non_coding_transcript_exon_variant,,ENST00000461504,;FBXO18,non_coding_transcript_exon_variant,,ENST00000485290,;FBXO18,upstream_gene_variant,,ENST00000496013,;FBXO18,upstream_gene_variant,,ENST00000470353,;FBXO18,upstream_gene_variant,,ENST00000479433,;	2607	83	63	SUCCESS
ANK3	288	.	GRCh37	10	61832737	61832737	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	100	0	ENST00000280772.2:c.7902G>A	p.Val2634=	p.V2634=	ENST00000280772	NM_020987.3	2634	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS7258.1	7902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGCACTTT	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,synonymous_variant,p.%3D,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	8094	100	86	SUCCESS
PLET1	349633	.	GRCh37	11	112119549	112119549	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	23	175	0	ENST00000338832.2:c.597T>A	p.Ala199=	p.A199=	ENST00000338832	NM_001145024.1	199	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	.	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAGCAAG	NONE	.	.	hmmpanther:PTHR22527	.	.	ENSP00000341412	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000338832	Transcript	.	.	ENSG00000188771	30053	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLET1_HUMAN	PLET1	HGNC	.	.	UPI000023753A	SNV	PLET1,synonymous_variant,p.%3D,ENST00000338832,;PLET1,synonymous_variant,p.%3D,ENST00000533819,;PLET1,downstream_gene_variant,,ENST00000527122,;AP002884.1,downstream_gene_variant,,ENST00000401135,;PTS,intron_variant,,ENST00000531673,;	868	175	107	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128840898	128840898	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	63	0	ENST00000310343.9:c.4168G>A	p.Ala1390Thr	p.A1390T	ENST00000310343	NM_001142685.1	1390	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS44769.1	4168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCACCGT	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9	.	.	ENSP00000310561	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(1)	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,missense_variant,p.Ala1041Thr,ENST00000527272,;ARHGAP32,missense_variant,p.Ala1041Thr,ENST00000392657,;ARHGAP32,missense_variant,p.Ala1390Thr,ENST00000310343,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	4168	63	33	SUCCESS
UBXN1	51035	.	GRCh37	11	62446470	62446470	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	97	0	ENST00000301935.5:c.-75T>C		p.*25*	ENST00000301935	NM_001286077.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8029.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGCAACCCGC	NONE	.	.	.	.	.	ENSP00000294119	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000294119	Transcript	.	.	ENSG00000162191	18402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBXN1_HUMAN	UBXN1	HGNC	.	.	UPI000006DE59	SNV	UBXN1,5_prime_UTR_variant,,ENST00000294119,;UBXN1,5_prime_UTR_variant,,ENST00000301935,;UBXN1,5_prime_UTR_variant,,ENST00000529640,;UBXN1,intron_variant,,ENST00000534176,;UBXN1,upstream_gene_variant,,ENST00000533000,;UBXN1,non_coding_transcript_exon_variant,,ENST00000524762,;UBXN1,upstream_gene_variant,,ENST00000525004,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000531625,;UBXN1,non_coding_transcript_exon_variant,,ENST00000531056,;UBXN1,non_coding_transcript_exon_variant,,ENST00000528907,;UBXN1,non_coding_transcript_exon_variant,,ENST00000527421,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525717,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533908,;UBXN1,non_coding_transcript_exon_variant,,ENST00000436354,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000526919,;	58	97	101	SUCCESS
SYVN1	84447	.	GRCh37	11	64901044	64901044	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	66	0	ENST00000377190.3:c.29C>T	p.Ala10Val	p.A10V	ENST00000377190	NM_172230.2	10	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31605.1	29	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGCCGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF69	.	.	ENSP00000366395	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000377190	Transcript	.	.	ENSG00000162298	20738	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.05)	.	tolerated(0.91)	.	SYVN1_HUMAN	SYVN1	HGNC	E9PMA1_HUMAN	.	UPI000004EE90	SNV	SYVN1,missense_variant,p.Ala10Val,ENST00000307289,;SYVN1,missense_variant,p.Ala10Val,ENST00000528487,;SYVN1,missense_variant,p.Ala10Val,ENST00000377190,;SYVN1,missense_variant,p.Ala10Val,ENST00000526060,;SYVN1,missense_variant,p.Ala10Val,ENST00000294256,;SYVN1,upstream_gene_variant,,ENST00000531018,;SYVN1,upstream_gene_variant,,ENST00000527765,;SYVN1,upstream_gene_variant,,ENST00000526121,;SYVN1,missense_variant,p.Ala10Val,ENST00000527142,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,upstream_gene_variant,,ENST00000532771,;SYVN1,upstream_gene_variant,,ENST00000533685,;SYVN1,upstream_gene_variant,,ENST00000525874,;SYVN1,upstream_gene_variant,,ENST00000529207,;SYVN1,upstream_gene_variant,,ENST00000530451,;	124	66	41	SUCCESS
SPTBN2	6712	.	GRCh37	11	66468343	66468343	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	72	0	ENST00000309996.2:c.3227A>T	p.Asp1076Val	p.D1076V	ENST00000309996	NM_006946.2	1076	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS8150.1	3227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGTCATCC	NONE	.	.	Superfamily_domains:SSF46966,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF205	.	.	ENSP00000432568	.	17/38	.	.	.	.	.	.	.	.	.	17/38	PASS	ENST00000533211	Transcript	.	.	ENSG00000173898	11276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0.01)	.	SPTN2_HUMAN	SPTBN2	HGNC	E9PJZ2_HUMAN,C1KC08_HUMAN	.	UPI000013EF83	SNV	SPTBN2,missense_variant,p.Asp1076Val,ENST00000533211,;SPTBN2,missense_variant,p.Asp1076Val,ENST00000309996,;SPTBN2,missense_variant,p.Asp1076Val,ENST00000529997,;SPTBN2,upstream_gene_variant,,ENST00000530665,;	3559	72	37	SUCCESS
UNC93B1	81622	.	GRCh37	11	67770601	67770601	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1447462090	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	59	0	ENST00000227471.2:c.283C>T	p.Arg95Cys	p.R95C	ENST00000227471	NM_030930.2	95	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	.	283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCGGTAGG	NONE	.	.	hmmpanther:PTHR19444:SF3,hmmpanther:PTHR19444	.	.	ENSP00000227471	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000227471	Transcript	.	.	ENSG00000110057	13481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	UN93B_HUMAN	UNC93B1	HGNC	E9PNE5_HUMAN	.	UPI000013C8B8	SNV	UNC93B1,missense_variant,p.Arg24Cys,ENST00000528423,;UNC93B1,missense_variant,p.Arg95Cys,ENST00000227471,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000530331,;UNC93B1,upstream_gene_variant,,ENST00000533966,;UNC93B1,missense_variant,p.Arg95Cys,ENST00000524455,;UNC93B1,3_prime_UTR_variant,,ENST00000531152,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000530138,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000533424,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000528096,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000525743,;	363	59	43	SUCCESS
FAT3	120114	.	GRCh37	11	92624158	92624158	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	91	0	ENST00000298047.6:c.13649C>A	p.Ser4550Tyr	p.S4550Y	ENST00000298047		4550	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	.	13649	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCTGCCA	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	.	.	ENSP00000298047	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.299)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ser853Tyr,ENST00000533797,;FAT3,missense_variant,p.Ser4550Tyr,ENST00000298047,;FAT3,missense_variant,p.Ser4518Tyr,ENST00000409404,;FAT3,missense_variant,p.Ser4400Tyr,ENST00000525166,;FAT3,downstream_gene_variant,,ENST00000489716,;FAT3,downstream_gene_variant,,ENST00000469900,;	13666	91	65	SUCCESS
CLEC1A	51267	.	GRCh37	12	10233967	10233967	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	48	178	0	ENST00000315330.4:c.260C>G	p.Ser87Cys	p.S87C	ENST00000315330	NM_016511.2	87	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS8612.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAGAAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22800:SF154,hmmpanther:PTHR22800	.	.	ENSP00000326407	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000315330	Transcript	.	.	ENSG00000150048	24355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	tolerated(0.06)	.	CLC1A_HUMAN	CLEC1A	HGNC	F8WCT4_HUMAN	.	UPI00000746EB	SNV	CLEC1A,missense_variant,p.Ser87Cys,ENST00000315330,;CLEC1A,missense_variant,p.Ser54Cys,ENST00000457018,;CLEC1A,intron_variant,,ENST00000420265,;RN7SKP161,upstream_gene_variant,,ENST00000411110,;CLEC1A,3_prime_UTR_variant,,ENST00000544104,;	323	178	132	SUCCESS
NRIP2	83714	.	GRCh37	12	2939769	2939769	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	46	0	ENST00000337508.4:c.495+105A>G		p.*165*	ENST00000337508	NM_031474.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8514.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCCCTTTCTCC	NONE	.	.	.	.	.	ENSP00000337501	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337508	Transcript	.	.	ENSG00000053702	23078	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRIP2_HUMAN	NRIP2	HGNC	F5H2G5_HUMAN,F5H065_HUMAN,A2RRE3_HUMAN	.	UPI000006E2A1	SNV	ITFG2,3_prime_UTR_variant,,ENST00000542548,;NRIP2,intron_variant,,ENST00000542386,;NRIP2,intron_variant,,ENST00000542990,;NRIP2,intron_variant,,ENST00000337508,;ITFG2,non_coding_transcript_exon_variant,,ENST00000552005,;ITFG2,3_prime_UTR_variant,,ENST00000540929,;ITFG2,intron_variant,,ENST00000538822,;	.	46	41	SUCCESS
NRIP2	83714	.	GRCh37	12	2939770	2939770	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	45	0	ENST00000337508.4:c.495+104A>G		p.*165*	ENST00000337508	NM_031474.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8514.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTCTCCC	NONE	.	.	.	.	.	ENSP00000337501	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337508	Transcript	.	.	ENSG00000053702	23078	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRIP2_HUMAN	NRIP2	HGNC	F5H2G5_HUMAN,F5H065_HUMAN,A2RRE3_HUMAN	.	UPI000006E2A1	SNV	ITFG2,3_prime_UTR_variant,,ENST00000542548,;NRIP2,intron_variant,,ENST00000542386,;NRIP2,intron_variant,,ENST00000542990,;NRIP2,intron_variant,,ENST00000337508,;ITFG2,non_coding_transcript_exon_variant,,ENST00000552005,;ITFG2,3_prime_UTR_variant,,ENST00000540929,;ITFG2,intron_variant,,ENST00000538822,;	.	46	42	SUCCESS
COPZ1	22818	.	GRCh37	12	54743441	54743441	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	38	135	0	ENST00000262061.2:c.485A>G	p.Gln162Arg	p.Q162R	ENST00000262061	NM_001271736.1	162	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS8877.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCAGGTAT	NONE	.	.	hmmpanther:PTHR11043:SF2,hmmpanther:PTHR11043	.	.	ENSP00000262061	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000262061	Transcript	.	.	ENSG00000111481	2243	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	deleterious(0.01)	.	COPZ1_HUMAN	COPZ1	HGNC	F8VYZ4_HUMAN,F8VYK5_HUMAN,F8VXB1_HUMAN	.	UPI000000416D	SNV	COPZ1,missense_variant,p.Gln74Arg,ENST00000548753,;COPZ1,missense_variant,p.Gln139Arg,ENST00000553231,;COPZ1,missense_variant,p.Gln183Arg,ENST00000552218,;COPZ1,missense_variant,p.Gln139Arg,ENST00000455864,;COPZ1,missense_variant,p.Gln170Arg,ENST00000549043,;COPZ1,missense_variant,p.Gln111Arg,ENST00000416254,;COPZ1,missense_variant,p.Gln162Arg,ENST00000551779,;COPZ1,missense_variant,p.Gln162Arg,ENST00000262061,;COPZ1,missense_variant,p.Gln104Arg,ENST00000549116,;COPZ1,intron_variant,,ENST00000552362,;COPZ1,downstream_gene_variant,,ENST00000552848,;COPZ1,downstream_gene_variant,,ENST00000550713,;RP11-968A15.8,downstream_gene_variant,,ENST00000553061,;RP11-753H16.5,upstream_gene_variant,,ENST00000552785,;RP11-753H16.3,upstream_gene_variant,,ENST00000550474,;RN7SL744P,downstream_gene_variant,,ENST00000577604,;COPZ1,splice_region_variant,,ENST00000548281,;COPZ1,splice_region_variant,,ENST00000550171,;COPZ1,splice_region_variant,,ENST00000551962,;COPZ1,downstream_gene_variant,,ENST00000551412,;COPZ1,downstream_gene_variant,,ENST00000550027,;	522	135	106	SUCCESS
OR6C4	341418	.	GRCh37	12	55945104	55945104	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs780663440	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	58	170	0	ENST00000394256.2:c.94A>C	p.Thr32Pro	p.T32P	ENST00000394256	NM_001005494.1	32	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS31827.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCACCTAC	NONE	byFrequency	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,Transmembrane_helices:TMhelix	.	.	ENSP00000377799	.	1/1	.	.	.	.	.	.	.	.	rs780663440	1/1	PASS	ENST00000394256	Transcript	.	.	ENSG00000179626	19632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.203)	.	deleterious_low_confidence(0)	.	OR6C4_HUMAN	OR6C4	HGNC	.	.	UPI000004A282	SNV	OR6C4,missense_variant,p.Thr32Pro,ENST00000394256,;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	122	170	166	SUCCESS
METTL1	4234	.	GRCh37	12	58163586	58163586	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	33	125	0	ENST00000324871.7:c.428A>G	p.Lys143Arg	p.K143R	ENST00000324871	NM_005371.5	143	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS8955.3	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTTCATG	NONE	.	.	HAMAP:MF_03055,PROSITE_profiles:PS51625,hmmpanther:PTHR23417,hmmpanther:PTHR23417:SF16,Pfam_domain:PF02390,TIGRFAM_domain:TIGR00091,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000314441	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000324871	Transcript	.	.	ENSG00000037897	7030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.734)	.	deleterious(0.03)	.	TRMB_HUMAN	METTL1	HGNC	F8VSD9_HUMAN	.	UPI0000072720	SNV	METTL1,missense_variant,p.Lys22Arg,ENST00000548504,;METTL1,missense_variant,p.Lys143Arg,ENST00000324871,;METTL1,intron_variant,,ENST00000257848,;METTL21B,upstream_gene_variant,,ENST00000551420,;METTL21B,upstream_gene_variant,,ENST00000300209,;METTL21B,upstream_gene_variant,,ENST00000548256,;RP11-571M6.15,upstream_gene_variant,,ENST00000546504,;METTL1,upstream_gene_variant,,ENST00000547653,;CYP27B1,upstream_gene_variant,,ENST00000546609,;CYP27B1,upstream_gene_variant,,ENST00000228606,;METTL21B,upstream_gene_variant,,ENST00000333012,;CYP27B1,upstream_gene_variant,,ENST00000546567,;AC025165.1,downstream_gene_variant,,ENST00000582738,;METTL1,downstream_gene_variant,,ENST00000548681,;CYP27B1,upstream_gene_variant,,ENST00000546496,;RP11-571M6.15,upstream_gene_variant,,ENST00000553083,;METTL21B,upstream_gene_variant,,ENST00000552307,;METTL1,3_prime_UTR_variant,,ENST00000551117,;METTL1,3_prime_UTR_variant,,ENST00000553125,;RP11-571M6.15,upstream_gene_variant,,ENST00000471530,;CYP27B1,upstream_gene_variant,,ENST00000547344,;CYP27B1,upstream_gene_variant,,ENST00000552186,;METTL1,downstream_gene_variant,,ENST00000549773,;CYP27B1,upstream_gene_variant,,ENST00000547451,;	1138	125	100	SUCCESS
PTPRQ	374462	.	GRCh37	12	80928756	80928756	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	69	243	1	ENST00000266688.5:c.2913T>C	p.Pro971=	p.P971=	ENST00000266688		971	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	.	2913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTAATGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000266688	.	24/50	.	.	.	.	.	.	.	.	.	24/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,synonymous_variant,p.%3D,ENST00000266688,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000547485,;	2913	245	196	SUCCESS
LIG4	3981	.	GRCh37	13	108863529	108863529	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	15	92	0	ENST00000356922.4:c.88A>G	p.Lys30Glu	p.K30E	ENST00000356922	NM_002312.3	30	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS9508.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTACTTT	NONE	.	.	hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF7,Gene3D:1x9nA01,Pfam_domain:PF04675,Superfamily_domains:0050884	.	.	ENSP00000349393	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000356922	Transcript	.	.	ENSG00000174405	6601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0.03)	.	DNLI4_HUMAN	LIG4	HGNC	.	.	UPI00000742BF	SNV	LIG4,missense_variant,p.Lys30Glu,ENST00000405925,;LIG4,missense_variant,p.Lys30Glu,ENST00000356922,;LIG4,missense_variant,p.Lys30Glu,ENST00000442234,;	361	92	97	SUCCESS
TNFRSF19	55504	.	GRCh37	13	24242840	24242840	+	synonymous_variant	Silent	SNP	C	C	T	rs1260754957	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	68	0	ENST00000382258.4:c.849C>T	p.Gly283=	p.G283=	ENST00000382258	NM_018647.3	283	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9302.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGCCCAGC	NONE	.	.	hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF1	.	.	ENSP00000371693	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000382258	Transcript	.	.	ENSG00000127863	11915	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNR19_HUMAN	TNFRSF19	HGNC	.	.	UPI00001372A7	SNV	TNFRSF19,synonymous_variant,p.%3D,ENST00000382258,;TNFRSF19,synonymous_variant,p.%3D,ENST00000382263,;TNFRSF19,synonymous_variant,p.%3D,ENST00000403372,;TNFRSF19,synonymous_variant,p.%3D,ENST00000248484,;	1053	68	75	SUCCESS
KATNAL1	84056	.	GRCh37	13	30814683	30814683	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	89	0	ENST00000380615.3:c.640G>T	p.Glu214Ter	p.E214*	ENST00000380615	NM_032116.4	214	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS31956.1	640	MUTECT|MUSE	.	TTCTTCCAGAT	NONE	.	.	HAMAP:MF_03023,HAMAP:MF_03024,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF65,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000369989	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000380615	Transcript	.	.	ENSG00000102781	28361	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KATL1_HUMAN	KATNAL1	HGNC	Q5T558_HUMAN,A2A3H2_HUMAN	.	UPI000006F05B	SNV	KATNAL1,stop_gained,p.Glu214Ter,ENST00000380617,;KATNAL1,stop_gained,p.Glu214Ter,ENST00000380615,;	808	89	70	SUCCESS
COG6	57511	.	GRCh37	13	40256393	40256393	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	62	403	0	ENST00000455146.3:c.780C>A	p.Val260=	p.V260=	ENST00000455146	NM_020751.2	260	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9370.1	780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTCTTATA	NONE	.	.	hmmpanther:PTHR21506,Pfam_domain:PF06419,SMART_domains:SM01087	.	.	ENSP00000397441	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000455146	Transcript	.	.	ENSG00000133103	18621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COG6_HUMAN	COG6	HGNC	B4DG73_HUMAN	.	UPI000019271E	SNV	COG6,synonymous_variant,p.%3D,ENST00000416691,;COG6,synonymous_variant,p.%3D,ENST00000455146,;COG6,downstream_gene_variant,,ENST00000422759,;COG6,non_coding_transcript_exon_variant,,ENST00000537156,;COG6,non_coding_transcript_exon_variant,,ENST00000465775,;COG6,3_prime_UTR_variant,,ENST00000356576,;COG6,3_prime_UTR_variant,,ENST00000536488,;COG6,downstream_gene_variant,,ENST00000543804,;	830	403	186	SUCCESS
IGHV1-18	28468	.	GRCh37	14	106641976	106641976	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs566019529	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	94	0	ENST00000390605.2:c.22C>T	p.Leu8Phe	p.L8F	ENST00000390605		8	Ctt/Ttt	0	.	A:0	.	A:0	.	A	L/F	IG_V_gene	YES	.	22	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGGATGC	NONE	by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266	A:0	.	ENSP00000375014	A:0	1/2	.	.	.	.	.	.	.	.	rs566019529	1/2	PASS	ENST00000390605	Transcript	.	A:0.0002	ENSG00000211945	5549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.308)	A:0.001	tolerated(0.09)	.	.	IGHV1-18	HGNC	.	.	UPI000011AAD9	SNV	IGHV1-18,missense_variant,p.Leu8Phe,ENST00000390605,;SLC20A1P2,upstream_gene_variant,,ENST00000438667,;	81	94	41	SUCCESS
OR4K2	390431	.	GRCh37	14	20345061	20345061	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs765866386	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	85	0	ENST00000298642.2:c.635T>G	p.Ile212Ser	p.I212S	ENST00000298642	NM_001005501.1	212	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS32023.1	635	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATTGTTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000298642	.	1/1	.	.	.	.	.	.	.	.	rs765866386	1/1	PASS	ENST00000298642	Transcript	.	.	ENSG00000165762	14728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.742)	.	tolerated(0.1)	.	OR4K2_HUMAN	OR4K2	HGNC	.	.	UPI0000041B4D	SNV	OR4K2,missense_variant,p.Ile212Ser,ENST00000298642,;	671	85	71	SUCCESS
C14orf39	317761	.	GRCh37	14	60928094	60928094	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	31	163	0	ENST00000321731.3:c.1095G>A	p.Gln365=	p.Q365=	ENST00000321731	NM_174978.2	365	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS9746.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCACTGATT	NONE	.	.	.	.	.	ENSP00000324920	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,synonymous_variant,p.%3D,ENST00000321731,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;	1255	163	91	SUCCESS
TMEM30B	161291	.	GRCh37	14	61747677	61747677	+	synonymous_variant	Silent	SNP	C	C	T	rs765484197	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	35	0	ENST00000555868.1:c.189G>A	p.Leu63=	p.L63=	ENST00000555868	NM_001017970.2	63	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32093.1	189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCCAGCTC	NONE	.	.	PIRSF_domain:PIRSF015840,Pfam_domain:PF03381,hmmpanther:PTHR10926,hmmpanther:PTHR10926:SF19	.	.	ENSP00000450842	.	1/1	.	.	.	.	.	.	.	.	rs765484197	1/1	PASS	ENST00000555868	Transcript	.	.	ENSG00000182107	27254	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC50B_HUMAN	TMEM30B	HGNC	.	.	UPI00001614C5	SNV	TMEM30B,synonymous_variant,p.%3D,ENST00000555868,;TMEM30B,synonymous_variant,p.%3D,ENST00000355702,;PRKCH,5_prime_UTR_variant,,ENST00000555542,;PRKCH,intron_variant,,ENST00000557294,;PRKCH,intron_variant,,ENST00000556778,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,upstream_gene_variant,,ENST00000555906,;TMEM30B,splice_region_variant,,ENST00000557163,;TMEM30B,non_coding_transcript_exon_variant,,ENST00000554497,;PRKCH,upstream_gene_variant,,ENST00000554835,;	882	35	31	SUCCESS
SHC4	399694	.	GRCh37	15	49255156	49255156	+	synonymous_variant	Silent	SNP	G	G	A	rs761322567	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	97	0	ENST00000332408.4:c.57C>T	p.Phe19=	p.F19=	ENST00000332408	NM_203349.3	19	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS10130.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGAAGAG	NONE	.	.	hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12	.	.	ENSP00000329668	.	1/12	.	.	.	.	.	.	.	.	rs761322567,COSM1301193	1/12	PASS	ENST00000332408	Transcript	.	.	ENSG00000185634	16743	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SHC4_HUMAN	SHC4	HGNC	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN	.	UPI00001B00C8	SNV	SHC4,synonymous_variant,p.%3D,ENST00000332408,;	486	97	53	SUCCESS
MAN2C1	4123	.	GRCh37	15	75651670	75651670	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	114	0	ENST00000267978.5:c.2045A>C	p.Glu682Ala	p.E682A	ENST00000267978	NM_006715.3	682	gAg/gCg	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS58391.1	2058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTCTTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607,Pfam_domain:PF07748,Superfamily_domains:SSF74650	.	.	ENSP00000457788	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000565683	Transcript	.	.	ENSG00000140400	6827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	MA2C1_HUMAN	MAN2C1	HGNC	H3BRV3_HUMAN	.	UPI0000229CBC	SNV	MAN2C1,missense_variant,p.Arg686Ser,ENST00000565683,;MAN2C1,missense_variant,p.Glu583Ala,ENST00000563622,;MAN2C1,missense_variant,p.Glu682Ala,ENST00000267978,;MAN2C1,missense_variant,p.Glu682Ala,ENST00000569482,;NEIL1,downstream_gene_variant,,ENST00000564784,;MAN2C1,downstream_gene_variant,,ENST00000568374,;NEIL1,downstream_gene_variant,,ENST00000355059,;NEIL1,downstream_gene_variant,,ENST00000569035,;RP11-817O13.6,upstream_gene_variant,,ENST00000563660,;MAN2C1,downstream_gene_variant,,ENST00000563539,;MAN2C1,downstream_gene_variant,,ENST00000566253,;MAN2C1,splice_region_variant,,ENST00000563441,;MAN2C1,splice_region_variant,,ENST00000563368,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563794,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566013,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000567163,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564785,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000421803,;MAN2C1,downstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000566099,;MAN2C1,upstream_gene_variant,,ENST00000561693,;MAN2C1,upstream_gene_variant,,ENST00000566569,;MAN2C1,upstream_gene_variant,,ENST00000567360,;NEIL1,downstream_gene_variant,,ENST00000569758,;MAN2C1,downstream_gene_variant,,ENST00000565784,;MAN2C1,downstream_gene_variant,,ENST00000563058,;MAN2C1,upstream_gene_variant,,ENST00000562067,;MAN2C1,downstream_gene_variant,,ENST00000569355,;MAN2C1,downstream_gene_variant,,ENST00000566634,;MAN2C1,downstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000565801,;MAN2C1,upstream_gene_variant,,ENST00000564570,;MAN2C1,downstream_gene_variant,,ENST00000563596,;NEIL1,downstream_gene_variant,,ENST00000561643,;MAN2C1,downstream_gene_variant,,ENST00000565534,;NEIL1,downstream_gene_variant,,ENST00000565121,;MAN2C1,downstream_gene_variant,,ENST00000563013,;MAN2C1,upstream_gene_variant,,ENST00000564929,;MAN2C1,downstream_gene_variant,,ENST00000570257,;NEIL1,downstream_gene_variant,,ENST00000567393,;MAN2C1,downstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000562228,;MAN2C1,upstream_gene_variant,,ENST00000563528,;	2070	114	68	SUCCESS
MAN2C1	4123	.	GRCh37	15	75651671	75651671	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	115	0	ENST00000267978.5:c.2044G>T	p.Glu682Ter	p.E682*	ENST00000267978	NM_006715.3	682	Gag/Tag	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS58391.1	2057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCTTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607,Pfam_domain:PF07748,Superfamily_domains:SSF74650	.	.	ENSP00000457788	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000565683	Transcript	.	.	ENSG00000140400	6827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.2)	.	MA2C1_HUMAN	MAN2C1	HGNC	H3BRV3_HUMAN	.	UPI0000229CBC	SNV	MAN2C1,stop_gained,p.Glu583Ter,ENST00000563622,;MAN2C1,stop_gained,p.Glu682Ter,ENST00000267978,;MAN2C1,stop_gained,p.Glu682Ter,ENST00000569482,;MAN2C1,missense_variant,p.Arg686Ile,ENST00000565683,;NEIL1,downstream_gene_variant,,ENST00000564784,;MAN2C1,downstream_gene_variant,,ENST00000568374,;NEIL1,downstream_gene_variant,,ENST00000355059,;NEIL1,downstream_gene_variant,,ENST00000569035,;RP11-817O13.6,upstream_gene_variant,,ENST00000563660,;MAN2C1,downstream_gene_variant,,ENST00000563539,;MAN2C1,downstream_gene_variant,,ENST00000566253,;MAN2C1,splice_region_variant,,ENST00000563441,;MAN2C1,splice_region_variant,,ENST00000563368,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563794,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566013,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000567163,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564785,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000421803,;MAN2C1,downstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000566099,;MAN2C1,upstream_gene_variant,,ENST00000561693,;MAN2C1,upstream_gene_variant,,ENST00000566569,;MAN2C1,upstream_gene_variant,,ENST00000567360,;NEIL1,downstream_gene_variant,,ENST00000569758,;MAN2C1,downstream_gene_variant,,ENST00000565784,;MAN2C1,downstream_gene_variant,,ENST00000563058,;MAN2C1,upstream_gene_variant,,ENST00000562067,;MAN2C1,downstream_gene_variant,,ENST00000569355,;MAN2C1,downstream_gene_variant,,ENST00000566634,;MAN2C1,downstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000565801,;MAN2C1,upstream_gene_variant,,ENST00000564570,;MAN2C1,downstream_gene_variant,,ENST00000563596,;NEIL1,downstream_gene_variant,,ENST00000561643,;MAN2C1,downstream_gene_variant,,ENST00000565534,;NEIL1,downstream_gene_variant,,ENST00000565121,;MAN2C1,downstream_gene_variant,,ENST00000563013,;MAN2C1,upstream_gene_variant,,ENST00000564929,;MAN2C1,downstream_gene_variant,,ENST00000570257,;NEIL1,downstream_gene_variant,,ENST00000567393,;MAN2C1,downstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000562228,;MAN2C1,upstream_gene_variant,,ENST00000563528,;	2069	115	70	SUCCESS
ACAN	176	.	GRCh37	15	89417247	89417247	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1181728986	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	40	0	ENST00000439576.2:c.7508G>T	p.Cys2503Phe	p.C2503F	ENST00000439576	NM_013227.3	2503	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS53970.1	7508	MUTECT|MUSE	.	CACCTGCACAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000387356	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Cys2503Phe,ENST00000439576,;ACAN,missense_variant,p.Cys2465Phe,ENST00000559004,;ACAN,missense_variant,p.Cys78Phe,ENST00000558704,;ACAN,missense_variant,p.Cys2503Phe,ENST00000561243,;ACAN,intron_variant,,ENST00000352105,;ACAN,downstream_gene_variant,,ENST00000560601,;HAPLN3,downstream_gene_variant,,ENST00000359595,;HAPLN3,downstream_gene_variant,,ENST00000562889,;ACAN,non_coding_transcript_exon_variant,,ENST00000558604,;HAPLN3,downstream_gene_variant,,ENST00000558770,;	7882	40	35	SUCCESS
ITGAM	3684	.	GRCh37	16	31336283	31336283	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	45	0	ENST00000287497.8:c.2294C>T	p.Pro765Leu	p.P765L	ENST00000287497		765	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54004.1	2297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCCCTTTG	NONE	.	.	hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Gene3D:1jv2A02,Pfam_domain:PF08441,Superfamily_domains:SSF69179	.	.	ENSP00000441691	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000544665	Transcript	.	.	ENSG00000169896	6149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ITAM_HUMAN	ITGAM	HGNC	B3KXM6_HUMAN	.	UPI000004B26A	SNV	ITGAM,missense_variant,p.Pro765Leu,ENST00000287497,;ITGAM,missense_variant,p.Pro766Leu,ENST00000544665,;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	2368	45	54	SUCCESS
USP7	7874	.	GRCh37	16	9057131	9057131	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750093857	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	36	0	ENST00000344836.4:c.12G>C	p.Gln4His	p.Q4H	ENST00000344836	NM_003470.2	4	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS32385.1	12	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000343535	.	1/31	.	.	.	.	.	.	.	.	rs750093857,COSM1380634	1/31	common_in_exac	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0)	.	tolerated_low_confidence(0.56)	0,1	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,missense_variant,p.Gln4His,ENST00000344836,;USP7,intron_variant,,ENST00000569230,;USP7,upstream_gene_variant,,ENST00000566273,;RP11-77H9.8,intron_variant,,ENST00000564485,;USP7,missense_variant,p.Gln4His,ENST00000563961,;	211	36	38	SUCCESS
HS3ST3B1	9953	.	GRCh37	17	14205320	14205320	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	98	0	ENST00000360954.2:c.485A>G	p.Asp162Gly	p.D162G	ENST00000360954	NM_006041.1	162	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11167.1	485	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGACGTGC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF9	.	.	ENSP00000354213	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000360954	Transcript	.	.	ENSG00000125430	5198	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.705)	.	deleterious(0.03)	.	HS3SB_HUMAN	HS3ST3B1	HGNC	.	.	UPI0000038167	SNV	HS3ST3B1,missense_variant,p.Asp162Gly,ENST00000360954,;RP11-214O1.1,upstream_gene_variant,,ENST00000571192,;RP11-214O1.2,upstream_gene_variant,,ENST00000583262,;HS3ST3B1,missense_variant,p.Asp162Gly,ENST00000466596,;	921	99	67	SUCCESS
CCDC144CP	348254	.	GRCh37	17	20224899	20224899	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs761183889,rs765777247	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	63	206	0	ENST00000433419.2:n.270G>T		p.*90*	ENST00000433419				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGGGCGA	NONE	byFrequency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761183889,rs765777247	.	PASS	ENST00000580225	Transcript	.	.	ENSG00000263494	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC004702.2	Clone_based_vega_gene	.	.	.	SNV	SPECC1,downstream_gene_variant,,ENST00000395530,;AC004702.2,intron_variant,,ENST00000580225,;U6,upstream_gene_variant,,ENST00000517027,;U6,upstream_gene_variant,,ENST00000580993,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000340196,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000425519,;CCDC144CP,non_coding_transcript_exon_variant,,ENST00000433419,;	.	206	99	SUCCESS
SUPT6H	6830	.	GRCh37	17	27024667	27024667	+	synonymous_variant	Silent	SNP	T	T	G	rs760096029	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	107	0	ENST00000314616.6:c.4239T>G	p.Ala1413=	p.A1413=	ENST00000314616	NM_003170.3	1413	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS32596.1	4239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCTCGCTA	NONE	.	.	Superfamily_domains:SSF55550,SMART_domains:SM00252,PIRSF_domain:PIRSF036947,Gene3D:3.30.505.10,Pfam_domain:PF14633,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145,PROSITE_profiles:PS50001	.	.	ENSP00000319104	.	31/37	.	.	.	.	.	.	.	.	rs760096029	31/37	PASS	ENST00000314616	Transcript	.	.	ENSG00000109111	11470	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT6H_HUMAN	SUPT6H	HGNC	J3QS64_HUMAN	.	UPI000015FFA7	SNV	SUPT6H,synonymous_variant,p.%3D,ENST00000314616,;SUPT6H,synonymous_variant,p.%3D,ENST00000347486,;SUPT6H,upstream_gene_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000580471,;SUPT6H,upstream_gene_variant,,ENST00000583340,;	4522	107	73	SUCCESS
ACACA	31	.	GRCh37	17	35615246	35615246	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	37	217	0	ENST00000353139.5:c.1550A>T	p.Tyr517Phe	p.Y517F	ENST00000353139	NM_198834.1	517	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS42302.1	1550	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCATACATC	NONE	.	.	PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Gene3D:3.30.470.20,Superfamily_domains:SSF56059	.	.	ENSP00000344789	.	13/56	.	.	.	.	.	.	.	.	.	13/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,missense_variant,p.Tyr422Phe,ENST00000360679,;ACACA,missense_variant,p.Tyr517Phe,ENST00000353139,;ACACA,missense_variant,p.Tyr480Phe,ENST00000394406,;ACACA,missense_variant,p.Tyr402Phe,ENST00000335166,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	2032	217	204	SUCCESS
MPP2	4355	.	GRCh37	17	41975687	41975687	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	117	0	ENST00000461854.1:c.93G>T	p.Leu31=	p.L31=	ENST00000461854	NM_001278372.1	31	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11471.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCAGCTC	NONE	.	.	PROSITE_profiles:PS51022,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF38,Pfam_domain:PF02828,SMART_domains:SM00569	.	.	ENSP00000269095	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000269095	Transcript	.	.	ENSG00000108852	7220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPP2_HUMAN	MPP2	HGNC	E7EX01_HUMAN,E7EV91_HUMAN,E5RK50_HUMAN,E5RJK0_HUMAN,E5RIU3_HUMAN,E5RIM9_HUMAN,E5RI32_HUMAN,E5RFN8_HUMAN	.	UPI000013D7F7	SNV	MPP2,synonymous_variant,p.%3D,ENST00000518766,;MPP2,synonymous_variant,p.%3D,ENST00000269095,;MPP2,synonymous_variant,p.%3D,ENST00000536246,;MPP2,synonymous_variant,p.%3D,ENST00000520406,;MPP2,synonymous_variant,p.%3D,ENST00000518478,;MPP2,synonymous_variant,p.%3D,ENST00000521178,;MPP2,synonymous_variant,p.%3D,ENST00000523762,;MPP2,synonymous_variant,p.%3D,ENST00000461854,;MPP2,synonymous_variant,p.%3D,ENST00000522172,;MPP2,synonymous_variant,p.%3D,ENST00000523934,;MPP2,synonymous_variant,p.%3D,ENST00000377184,;MPP2,synonymous_variant,p.%3D,ENST00000520241,;MPP2,synonymous_variant,p.%3D,ENST00000523220,;MPP2,synonymous_variant,p.%3D,ENST00000523501,;MPP2,intron_variant,,ENST00000520305,;MPP2,non_coding_transcript_exon_variant,,ENST00000473246,;MPP2,non_coding_transcript_exon_variant,,ENST00000524294,;MPP2,non_coding_transcript_exon_variant,,ENST00000520319,;	398	117	88	SUCCESS
AXIN2	8313	.	GRCh37	17	63545701	63545701	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs139274803	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	119	0	ENST00000307078.5:c.893A>G	p.Asn298Ser	p.N298S	ENST00000307078	NM_004655.3	298	aAc/aGc	0	C:0.0002	.	.	.	.	C	N/S	protein_coding	YES	CCDS11662.1	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGTTGGCG	NONE	byCluster	.	hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	C:0	ENSP00000302625	.	3/11	.	.	.	.	.	.	.	.	rs139274803	3/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,missense_variant,p.Asn298Ser,ENST00000375702,;AXIN2,missense_variant,p.Asn298Ser,ENST00000307078,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;	1207	119	91	SUCCESS
H3F3B	0	.	GRCh37	17	73775166	73775166	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	134	0	ENST00000254810.4:c.90T>G	p.Ala30=	p.A30=	ENST00000254810	NM_005324.3	30	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS11729.1	90	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGAGCGCT	NONE	.	.	hmmpanther:PTHR11426,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000254810	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000254810	Transcript	.	.	ENSG00000132475	4765	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H33_HUMAN	H3F3B	HGNC	K7EK07_HUMAN,B4E380_HUMAN,B2R4P9_HUMAN	.	UPI00000007B0	SNV	H3F3B,synonymous_variant,p.%3D,ENST00000591890,;H3F3B,synonymous_variant,p.%3D,ENST00000587560,;H3F3B,synonymous_variant,p.%3D,ENST00000592643,;H3F3B,synonymous_variant,p.%3D,ENST00000254810,;H3F3B,synonymous_variant,p.%3D,ENST00000586270,;H3F3B,synonymous_variant,p.%3D,ENST00000589599,;H3F3B,synonymous_variant,p.%3D,ENST00000586607,;H3F3B,synonymous_variant,p.%3D,ENST00000587171,;H3F3B,intron_variant,,ENST00000593254,;H3F3B,non_coding_transcript_exon_variant,,ENST00000589417,;H3F3B,non_coding_transcript_exon_variant,,ENST00000586518,;H3F3B,non_coding_transcript_exon_variant,,ENST00000589949,;H3F3B,downstream_gene_variant,,ENST00000591893,;	223	134	102	SUCCESS
TP53	7157	.	GRCh37	17	7577112	7577113	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	ACAA	.	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	21	33	125	0	ENST00000269305.4:c.822_825dup	p.Ala276LeufsTer31	p.A276Lfs*31	ENST00000269305	NM_001126112.2	275	-/TTGT	0	.	.	.	.	.	ACAA	-/LX	protein_coding	YES	CCDS11118.1	825-826	INDELOCATOR|VARSCANI	.	ACAGGCACAAA	CODON|p.0?|c.1_1182del1182|6,CODON|p.A276D|c.827C>A|9,CODON|p.A276G|c.827C>G|4,CODON|p.A276D|c.827C>A|3,CODON|p.A276V|c.827C>T|7,CODON|p.A276P|c.826G>C|3,CODON|p.A276T|c.826G>A|7,CODON|p.A276S|c.826G>T|9,CODON|p.A276P|c.826G>C|16,CODON|p.C275C|c.825T>C|4,CODON|p.C275W|c.825T>G|8,CODON|p.C275*|c.825T>A|3,CODON|p.C275F|c.824G>T|10,CODON|p.C275S|c.824G>C|4,CODON|p.C275Y|c.824G>A|5,CODON|p.C275F|c.824G>T|43,CODON|p.C275F|c.824G>T|5,CODON|p.C275Y|c.824G>A|54,CODON|p.C275Y|c.824G>A|5,CODON|p.C275Y|c.824G>A|11,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279E|c.836G>A|4,BUFFER|p.G279E|c.836G>A|34,BUFFER|p.G279V|c.836G>T|3,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277*|c.831T>A|6,BUFFER|p.C277C|c.831T>C|4,BUFFER|p.C277Y|c.830G>A|15,BUFFER|p.C277F|c.830G>T|22,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273L|c.818G>T|98,BUFFER|p.R273P|c.818G>C|4,BUFFER|p.R273H|c.818G>A|116,BUFFER|p.R273H|c.818G>A|64,BUFFER|p.R273H|c.818G>A|588,BUFFER|p.R273L|c.818G>T|5,BUFFER|p.R273H|c.818G>A|83,BUFFER|p.R273P|c.818G>C|29,BUFFER|p.R273L|c.818G>T|18,BUFFER|p.R273L|c.818G>T|12,BUFFER|p.R273S|c.817C>A|4,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273S|c.817C>A|15,BUFFER|p.R273C|c.817C>T|59,BUFFER|p.V272E|c.815T>A|9,BUFFER|p.V272G|c.815T>G|7,BUFFER|p.V272A|c.815T>C|7,BUFFER|p.V272fs*73|c.814delG|3	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13805_13806ins4,TP53_g.13805_13806ins30,TP53_g.13805_13806ins8,COSM45793,COSM46320	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,0,0,1,1	.	.	.	.	.	0,0,0,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	insertion	TP53,frameshift_variant,p.Ala276LeufsTer31,ENST00000420246,;TP53,frameshift_variant,p.Ala276LeufsTer31,ENST00000269305,;TP53,frameshift_variant,p.Ala144LeufsTer31,ENST00000509690,;TP53,frameshift_variant,p.Ala276LeufsTer31,ENST00000359597,;TP53,frameshift_variant,p.Ala276LeufsTer31,ENST00000445888,;TP53,frameshift_variant,p.Ala276LeufsTer31,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1015-1016	125	55	SUCCESS
CEP192	55125	.	GRCh37	18	13100343	13100343	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	43	177	0	ENST00000506447.1:c.6703G>T	p.Val2235Leu	p.V2235L	ENST00000506447	NM_032142.3	2235	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS32792.2	6703	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAAGTGGAA	NONE	.	.	hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029	.	.	ENSP00000427550	.	38/45	.	.	.	.	.	.	.	.	.	38/45	PASS	ENST00000506447	Transcript	.	.	ENSG00000101639	25515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.13)	.	.	CEP192	HGNC	E9PF99_HUMAN	.	UPI0001B09235	SNV	CEP192,missense_variant,p.Val1639Leu,ENST00000325971,;CEP192,missense_variant,p.Val2235Leu,ENST00000506447,;CEP192,missense_variant,p.Val1760Leu,ENST00000430049,;CEP192,missense_variant,p.Val1774Leu,ENST00000511820,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,upstream_gene_variant,,ENST00000508539,;CEP192,missense_variant,p.Val1835Leu,ENST00000510237,;CEP192,missense_variant,p.Val783Leu,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,downstream_gene_variant,,ENST00000508150,;	6783	177	148	SUCCESS
POTEC	388468	.	GRCh37	18	14530546	14530546	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	130	1	ENST00000358970.5:c.1062T>C	p.Cys354=	p.C354=	ENST00000358970	NM_001137671.1	354	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS45835.1	1062	RADIA|SOMATICSNIPER|VARSCANS	.	AATTCACAAAT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000351856	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,synonymous_variant,p.%3D,ENST00000358970,;RNU6-1021P,downstream_gene_variant,,ENST00000363262,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,synonymous_variant,p.%3D,ENST00000511306,;	1062	131	115	SUCCESS
GAREM	0	.	GRCh37	18	29890207	29890207	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	187	0	ENST00000269209.6:c.342G>C	p.Lys114Asn	p.K114N	ENST00000269209		114	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS56057.1	342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCTTAGC	NONE	.	.	hmmpanther:PTHR14454:SF6,hmmpanther:PTHR14454,Pfam_domain:PF12736	.	.	ENSP00000269209	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000269209	Transcript	.	.	ENSG00000141441	26136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	tolerated(0.12)	.	GAREM_HUMAN	GAREM	HGNC	.	.	UPI00005A72DA	SNV	GAREM,missense_variant,p.Lys114Asn,ENST00000399218,;GAREM,missense_variant,p.Lys114Asn,ENST00000269209,;GAREM,non_coding_transcript_exon_variant,,ENST00000578619,;	346	187	103	SUCCESS
NETO1	81832	.	GRCh37	18	70502522	70502522	+	intron_variant	Intron	SNP	C	C	A	rs762370587	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	74	0	ENST00000327305.6:c.469+23539G>T		p.*157*	ENST00000327305	NM_138966.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12000.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTCTGTAG	NONE	byFrequency	.	.	.	.	ENSP00000313088	.	.	.	.	.	.	.	.	.	.	rs762370587	.	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,3_prime_UTR_variant,,ENST00000397929,;NETO1,intron_variant,,ENST00000327305,;NETO1,intron_variant,,ENST00000583169,;NETO1,intron_variant,,ENST00000299430,;NETO1,non_coding_transcript_exon_variant,,ENST00000580049,;NETO1,intron_variant,,ENST00000579730,;	.	74	40	SUCCESS
ZNF443	10224	.	GRCh37	19	12542634	12542634	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	194	0	ENST00000301547.5:c.352C>G	p.Leu118Val	p.L118V	ENST00000301547	NM_005815.4	118	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS32918.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAAGGGATG	NONE	.	.	hmmpanther:PTHR24379:SF16,hmmpanther:PTHR24379	.	.	ENSP00000301547	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000301547	Transcript	.	.	ENSG00000180855	20878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.03)	.	ZN443_HUMAN	ZNF443	HGNC	F8WDY2_HUMAN	.	UPI000020344A	SNV	ZNF443,missense_variant,p.Leu118Val,ENST00000301547,;CTD-3105H18.16,intron_variant,,ENST00000595562,;ZNF443,3_prime_UTR_variant,,ENST00000436821,;CTD-3105H18.18,downstream_gene_variant,,ENST00000598753,;	550	194	126	SUCCESS
CACNA1A	773	.	GRCh37	19	13387894	13387894	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	124	0	ENST00000360228.5:c.3871A>G	p.Met1291Val	p.M1291V	ENST00000360228	NM_001127222.1	1291	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS45998.1	3871	RADIA|MUTECT|MUSE	.	CACCATCTCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000353362	.	23/47	.	.	.	.	.	.	.	.	.	23/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Met1292Val,ENST00000573710,;CACNA1A,missense_variant,p.Met1291Val,ENST00000360228,;CACNA1A,upstream_gene_variant,,ENST00000585802,;	3871	124	100	SUCCESS
MRPL34	64981	.	GRCh37	19	17416601	17416601	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs375703549	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	27	0	ENST00000252602.1:c.-101G>T		p.*34*	ENST00000252602	NM_023937.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS12356.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGTTAGG	NONE	byFrequency|byCluster|by1000G	.	.	T:0.002	.	ENSP00000252602	T:0	1/2	.	.	.	.	.	.	.	.	rs375703549	1/2	PASS	ENST00000252602	Transcript	.	T:0.0004	ENSG00000130312	14488	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RM34_HUMAN	MRPL34	HGNC	.	.	UPI00000467F0	SNV	MRPL34,5_prime_UTR_variant,,ENST00000252602,;ABHD8,intron_variant,,ENST00000593489,;MRPL34,intron_variant,,ENST00000600434,;MRPL34,intron_variant,,ENST00000595444,;MRPL34,intron_variant,,ENST00000594999,;ABHD8,upstream_gene_variant,,ENST00000247706,;ABHD8,upstream_gene_variant,,ENST00000594194,;DDA1,upstream_gene_variant,,ENST00000359866,;MRPL34,upstream_gene_variant,,ENST00000602206,;DDA1,upstream_gene_variant,,ENST00000596925,;DDA1,upstream_gene_variant,,ENST00000596582,;DDA1,upstream_gene_variant,,ENST00000593466,;	125	27	21	SUCCESS
COMP	1311	.	GRCh37	19	18895754	18895754	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	102	0	ENST00000222271.2:c.1866G>A	p.Trp622Ter	p.W622*	ENST00000222271	NM_000095.2	622	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS12385.1	1866	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCCAATA	BUFFER|p.A624G|c.1871C>G|5	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF81,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899	.	.	ENSP00000222271	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000222271	Transcript	1	.	ENSG00000105664	2227	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMP_HUMAN	COMP	HGNC	G3XAP6_HUMAN	.	UPI000013C7F6	SNV	COMP,stop_gained,p.Trp589Ter,ENST00000542601,;COMP,stop_gained,p.Trp569Ter,ENST00000425807,;COMP,stop_gained,p.Trp622Ter,ENST00000222271,;CRTC1,downstream_gene_variant,,ENST00000338797,;COMP,downstream_gene_variant,,ENST00000546510,;	1911	102	90	SUCCESS
ZNF738	148203	.	GRCh37	19	21541901	21541901	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	61	0	ENST00000311015.3:c.-42G>A		p.*14*	ENST00000311015				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGAATCC	NONE	.	.	.	.	.	ENSP00000311957	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000311015	Transcript	.	.	ENSG00000172687	32469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN738_HUMAN	ZNF738	HGNC	.	.	UPI000006D73F	SNV	ZNF738,5_prime_UTR_variant,,ENST00000311015,;ZNF738,5_prime_UTR_variant,,ENST00000594245,;ZNF738,5_prime_UTR_variant,,ENST00000380870,;ZNF738,5_prime_UTR_variant,,ENST00000597810,;ZNF738,5_prime_UTR_variant,,ENST00000597492,;	170	61	50	SUCCESS
WDR87	83889	.	GRCh37	19	38380266	38380266	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1354471385	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	104	0	ENST00000303868.5:c.3928G>A	p.Val1310Ile	p.V1310I	ENST00000303868	NM_031951.3	1310	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS46063.1	3928	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGACTACAT	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Val1349Ile,ENST00000447313,;WDR87,missense_variant,p.Val1310Ile,ENST00000303868,;	4153	104	100	SUCCESS
RINL	126432	.	GRCh37	19	39361800	39361800	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	85	0	ENST00000591812.1:c.519C>T	p.Leu173=	p.L173=	ENST00000591812		173	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59386.1	519	MUTECT|MUSE	.	AGGTAGAGCTG	NONE	.	.	hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF44	.	.	ENSP00000467107	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000591812	Transcript	.	.	ENSG00000187994	24795	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RINL_HUMAN	RINL	HGNC	M0QZ15_HUMAN	.	UPI00001D8162	SNV	RINL,synonymous_variant,p.%3D,ENST00000340740,;RINL,synonymous_variant,p.%3D,ENST00000598904,;RINL,synonymous_variant,p.%3D,ENST00000591812,;RINL,upstream_gene_variant,,ENST00000593424,;RINL,upstream_gene_variant,,ENST00000593809,;CTC-360G5.6,intron_variant,,ENST00000593830,;RINL,upstream_gene_variant,,ENST00000602238,;RINL,non_coding_transcript_exon_variant,,ENST00000589111,;RINL,downstream_gene_variant,,ENST00000599911,;RINL,downstream_gene_variant,,ENST00000596919,;RINL,upstream_gene_variant,,ENST00000596961,;RINL,downstream_gene_variant,,ENST00000598048,;	606	85	91	SUCCESS
CEACAM3	1084	.	GRCh37	19	42311267	42311267	+	intron_variant	Intron	SNP	T	T	C	rs782093538	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	108	0	ENST00000357396.3:c.425-1584T>C		p.*142*	ENST00000357396	NM_001815.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12586.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAATGGTCA	NONE	.	.	.	.	.	ENSP00000349971	.	.	.	.	.	.	.	.	.	.	rs782093538	.	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,intron_variant,,ENST00000357396,;CEACAM3,intron_variant,,ENST00000344550,;CEACAM3,intron_variant,,ENST00000221999,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,upstream_gene_variant,,ENST00000599662,;CEACAM3,3_prime_UTR_variant,,ENST00000415495,;	.	108	85	SUCCESS
LIPE	3991	.	GRCh37	19	42914801	42914801	+	synonymous_variant	Silent	SNP	C	C	A	rs777826854	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	42	132	0	ENST00000244289.4:c.1077G>T	p.Ala359=	p.A359=	ENST00000244289	NM_005357.2	359	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12607.1	1077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCGCCAC	NONE	byFrequency	.	hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3,Pfam_domain:PF06350	.	.	ENSP00000244289	.	2/10	.	.	.	.	.	.	.	.	rs777826854	2/10	PASS	ENST00000244289	Transcript	.	.	ENSG00000079435	6621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPS_HUMAN	LIPE	HGNC	M0QXM5_HUMAN,M0QXB1_HUMAN	.	UPI000013CB66	SNV	LIPE,synonymous_variant,p.%3D,ENST00000244289,;LIPE,synonymous_variant,p.%3D,ENST00000597001,;LIPE,synonymous_variant,p.%3D,ENST00000601189,;LIPE,synonymous_variant,p.%3D,ENST00000599211,;LIPE,synonymous_variant,p.%3D,ENST00000599783,;LIPE,upstream_gene_variant,,ENST00000597620,;LIPE,upstream_gene_variant,,ENST00000599918,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE-AS1,downstream_gene_variant,,ENST00000593491,;LIPE-AS1,downstream_gene_variant,,ENST00000599276,;LIPE,intron_variant,,ENST00000602000,;LIPE,upstream_gene_variant,,ENST00000600224,;	1354	132	106	SUCCESS
CACNG6	59285	.	GRCh37	19	54515342	54515342	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773351063	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	42	0	ENST00000252729.2:c.682G>A	p.Gly228Ser	p.G228S	ENST00000252729	NM_145814.1	228	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS12870.1	682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGCCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15025:SF6,hmmpanther:PTHR15025,Pfam_domain:PF13903,Prints_domain:PR01792	.	.	ENSP00000252729	.	4/4	.	.	.	.	.	.	.	.	rs773351063	4/4	PASS	ENST00000252729	Transcript	.	.	ENSG00000130433	13625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated(0.28)	.	CCG6_HUMAN	CACNG6	HGNC	.	.	UPI0000001276	SNV	CACNG6,missense_variant,p.Gly228Ser,ENST00000252729,;CACNG6,missense_variant,p.Gly182Ser,ENST00000346968,;CACNG6,missense_variant,p.Gly157Ser,ENST00000352529,;	1272	42	53	SUCCESS
ZNF135	7694	.	GRCh37	19	58579098	58579098	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	62	125	0	ENST00000313434.5:c.1246G>A	p.Gly416Arg	p.G416R	ENST00000313434	NM_003436.3	416	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS54329.1	1318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTGGGAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355	.	.	ENSP00000441410	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401053	Transcript	.	.	ENSG00000176293	12919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	ZN135_HUMAN	ZNF135	HGNC	.	.	UPI0001B3CB2A	SNV	ZNF135,missense_variant,p.Gly440Arg,ENST00000401053,;ZNF135,missense_variant,p.Gly374Arg,ENST00000506786,;ZNF135,missense_variant,p.Gly416Arg,ENST00000313434,;ZNF135,missense_variant,p.Gly428Arg,ENST00000511556,;ZNF135,missense_variant,p.Gly416Arg,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	1321	125	126	SUCCESS
KCNA3	3738	.	GRCh37	1	111216625	111216625	+	synonymous_variant	Silent	SNP	C	C	A	rs562236416	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	42	148	0	ENST00000369769.2:c.807G>T	p.Thr269=	p.T269=	ENST00000369769	NM_002232.3	269	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS828.2	807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGACGTCGA	NONE	.	.	hmmpanther:PTHR11537:SF28,hmmpanther:PTHR11537,Gene3D:1.20.120.350	.	.	ENSP00000358784	.	1/1	.	.	.	.	.	.	.	.	rs562236416,COSM3710004	1/1	PASS	ENST00000369769	Transcript	.	.	ENSG00000177272	6221	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	KCNA3_HUMAN	KCNA3	HGNC	Q6P2D3_HUMAN,B2RA23_HUMAN	.	UPI000013FB79	SNV	KCNA3,synonymous_variant,p.%3D,ENST00000369769,;	1031	148	91	SUCCESS
SEMA6C	10500	.	GRCh37	1	151111134	151111134	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	24	182	0	ENST00000341697.3:c.428C>A	p.Ser143Ter	p.S143*	ENST00000341697		143	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS53364.1	428	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGAGTTC	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,PROSITE_profiles:PS51004	.	.	ENSP00000357909	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000368913	Transcript	.	.	ENSG00000143434	10740	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM6C_HUMAN	SEMA6C	HGNC	Q9UFI1_HUMAN	.	UPI00001414D0	SNV	SEMA6C,stop_gained,p.Ser143Ter,ENST00000368914,;SEMA6C,stop_gained,p.Ser143Ter,ENST00000368913,;SEMA6C,stop_gained,p.Ser143Ter,ENST00000341697,;SEMA6C,stop_gained,p.Ser143Ter,ENST00000368912,;SEMA6C,non_coding_transcript_exon_variant,,ENST00000485745,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,upstream_gene_variant,,ENST00000464018,;	557	182	189	SUCCESS
FCRL5	83416	.	GRCh37	1	157488260	157488260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	97	0	ENST00000361835.3:c.2771A>G	p.Tyr924Cys	p.Y924C	ENST00000361835	NM_001195388.1	924	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1165.1	2771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGTAAACC	NONE	.	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49	.	.	ENSP00000354691	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Tyr924Cys,ENST00000361835,;FCRL5,missense_variant,p.Tyr924Cys,ENST00000356953,;FCRL5,non_coding_transcript_exon_variant,,ENST00000483875,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000462218,;	2929	97	104	SUCCESS
CROCCP3	114819	.	GRCh37	1	16802495	16802506	+	non_coding_transcript_exon_variant	RNA	DEL	GCCTCCTGCTTC	GCCTCCTGCTTC	-	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	GCCTCCTGCTTC	GCCTCCTGCTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	14	23	39	0	ENST00000263511.4:n.2490_2501del		p.*830*	ENST00000263511				0	.	.	.	.	.	-	.	processed_transcript	YES	.	.	VARSCANI*|PINDEL	.	ACTGTGGCCTCCTGCTTCGCCTG	NONE	.	.	.	.	.	.	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000263511	Transcript	.	.	ENSG00000080947	29405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CROCCP3	HGNC	.	.	.	deletion	CROCCP3,non_coding_transcript_exon_variant,,ENST00000591348,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000263511,;CROCCP3,downstream_gene_variant,,ENST00000591316,;CROCCP3,non_coding_transcript_exon_variant,,ENST00000420820,;	2490-2501	39	37	SUCCESS
CENPF	1063	.	GRCh37	1	214818024	214818024	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	96	268	0	ENST00000366955.3:c.5111T>C	p.Leu1704Pro	p.L1704P	ENST00000366955	NM_016343.3	1704	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31023.1	5111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCTAGACA	NONE	.	.	hmmpanther:PTHR18874	.	.	ENSP00000355922	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Leu1704Pro,ENST00000366955,;CENPF,upstream_gene_variant,,ENST00000467765,;	5279	268	243	SUCCESS
NUP133	55746	.	GRCh37	1	229601263	229601263	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	56	0	ENST00000261396.3:c.2203A>T	p.Met735Leu	p.M735L	ENST00000261396	NM_018230.2	735	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS1579.1	2203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATATCCT	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0.01)	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,missense_variant,p.Met719Leu,ENST00000537506,;NUP133,missense_variant,p.Met735Leu,ENST00000261396,;	2295	56	52	SUCCESS
ABCB10	23456	.	GRCh37	1	229667460	229667460	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139689788	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	147	0	ENST00000344517.4:c.1358C>T	p.Ser453Leu	p.S453L	ENST00000344517	NM_012089.2	453	tCg/tTg	0	A:0.0002	.	.	.	.	A	S/L	protein_coding	YES	CCDS1580.1	1358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGAGTAG	NONE	byCluster	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF121,hmmpanther:PTHR24221,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	A:0.0001	ENSP00000355637	.	7/13	.	.	.	.	.	.	.	.	rs139689788,COSM1339942	7/13	PASS	ENST00000344517	Transcript	.	.	ENSG00000135776	41	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.187)	.	deleterious(0)	0,1	ABCBA_HUMAN	ABCB10	HGNC	Q6ZMF8_HUMAN	.	UPI000013CFBF	SNV	ABCB10,missense_variant,p.Ser453Leu,ENST00000344517,;RNU4-21P,downstream_gene_variant,,ENST00000362802,;ABCB10,non_coding_transcript_exon_variant,,ENST00000486755,;	1401	147	95	SUCCESS
DISC1	27185	.	GRCh37	1	231829897	231829897	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	54	0	ENST00000439617.2:c.393G>A	p.Arg131=	p.R131=	ENST00000439617	NM_001164540.1	131	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS53482.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGCTTAG	NONE	.	.	hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332	.	.	ENSP00000355593	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,synonymous_variant,p.%3D,ENST00000539444,;DISC1,synonymous_variant,p.%3D,ENST00000439617,;DISC1,synonymous_variant,p.%3D,ENST00000317586,;DISC1,synonymous_variant,p.%3D,ENST00000535983,;DISC1,synonymous_variant,p.%3D,ENST00000602281,;DISC1,synonymous_variant,p.%3D,ENST00000366633,;DISC1,synonymous_variant,p.%3D,ENST00000366636,;DISC1,synonymous_variant,p.%3D,ENST00000537876,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,intron_variant,,ENST00000602873,;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,synonymous_variant,p.%3D,ENST00000295051,;DISC1,synonymous_variant,p.%3D,ENST00000602822,;DISC1,synonymous_variant,p.%3D,ENST00000366632,;DISC1,synonymous_variant,p.%3D,ENST00000602713,;DISC1,synonymous_variant,p.%3D,ENST00000602700,;DISC1,synonymous_variant,p.%3D,ENST00000535944,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	446	54	41	SUCCESS
ARID1A	8289	.	GRCh37	1	27087429	27087429	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	72	0	ENST00000324856.7:c.2003G>T	p.Ser668Ile	p.S668I	ENST00000324856	NM_006015.4	668	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS285.1	2003	MUTECT|MUSE	.	TTCCAGCAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	.	.	ENSP00000320485	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Ser668Ile,ENST00000457599,;ARID1A,missense_variant,p.Ser285Ile,ENST00000374152,;ARID1A,missense_variant,p.Ser668Ile,ENST00000324856,;RN7SL501P,upstream_gene_variant,,ENST00000578818,;	2374	72	48	SUCCESS
YTHDF2	51441	.	GRCh37	1	29070165	29070165	+	synonymous_variant	Silent	SNP	C	C	T	rs1356450077	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	50	336	0	ENST00000373812.3:c.1383C>T	p.Val461=	p.V461=	ENST00000373812	NM_016258.2	461	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS41296.1	1383	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCAACGG	NONE	.	.	Pfam_domain:PF04146,hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF8,PROSITE_profiles:PS50882	.	.	ENSP00000362918	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000373812	Transcript	.	.	ENSG00000198492	31675	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	YTHD2_HUMAN	YTHDF2	HGNC	S4R3J8_HUMAN	.	UPI0000034E25	SNV	YTHDF2,synonymous_variant,p.%3D,ENST00000373812,;YTHDF2,synonymous_variant,p.%3D,ENST00000541996,;YTHDF2,synonymous_variant,p.%3D,ENST00000542507,;YTHDF2,downstream_gene_variant,,ENST00000496288,;YTHDF2,downstream_gene_variant,,ENST00000474884,;YTHDF2,non_coding_transcript_exon_variant,,ENST00000478283,;YTHDF2,downstream_gene_variant,,ENST00000468863,;YTHDF2,downstream_gene_variant,,ENST00000476976,;YTHDF2,downstream_gene_variant,,ENST00000475796,;	1745	336	283	SUCCESS
MACF1	23499	.	GRCh37	1	39909144	39909144	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	25	53	0	ENST00000372915.3:c.19026A>T	p.Glu6342Asp	p.E6342D	ENST00000372915		6342	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS435.1	13152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGAAGATTT	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,Pfam_domain:PF00435	.	.	ENSP00000439537	.	75/94	.	.	.	.	.	.	.	.	.	75/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.594)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.Glu3388Asp,ENST00000372925,;MACF1,missense_variant,p.Glu4384Asp,ENST00000361689,;MACF1,missense_variant,p.Glu4886Asp,ENST00000289893,;MACF1,missense_variant,p.Glu6443Asp,ENST00000564288,;MACF1,missense_variant,p.Glu4254Asp,ENST00000539005,;MACF1,missense_variant,p.Glu6342Asp,ENST00000372915,;MACF1,missense_variant,p.Glu4384Asp,ENST00000317713,;MACF1,missense_variant,p.Glu6480Asp,ENST00000567887,;MACF1,missense_variant,p.Glu4384Asp,ENST00000545844,;MACF1,downstream_gene_variant,,ENST00000469490,;	13260	53	38	SUCCESS
XRN2	22803	.	GRCh37	20	21284010	21284010	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	30	117	0	ENST00000377191.3:c.-27G>T		p.*9*	ENST00000377191	NM_012255.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13144.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGGCCGC	NONE	.	.	.	.	.	ENSP00000366396	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,5_prime_UTR_variant,,ENST00000430571,;XRN2,5_prime_UTR_variant,,ENST00000377191,;XRN2,upstream_gene_variant,,ENST00000539513,;	69	117	91	SUCCESS
ABHD12	26090	.	GRCh37	20	25371383	25371383	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs373200654	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	49	21	0	ENST00000339157.5:c.-44C>G		p.*15*	ENST00000339157	NM_001042472.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13172.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GGCCTGCGCCG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000365725	.	1/13	.	.	.	.	.	.	.	.	rs373200654	1/13	common_in_exac	ENST00000376542	Transcript	1	.	ENSG00000100997	15868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,5_prime_UTR_variant,,ENST00000339157,;ABHD12,5_prime_UTR_variant,,ENST00000376542,;ABHD12,upstream_gene_variant,,ENST00000471287,;ABHD12,5_prime_UTR_variant,,ENST00000461204,;	237	21	75	SUCCESS
POFUT1	23509	.	GRCh37	20	30803178	30803178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	19	129	0	ENST00000375749.3:c.353C>A	p.Pro118His	p.P118H	ENST00000375749	NM_015352.1	118	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS13198.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCCCCCTG	NONE	.	.	Pfam_domain:PF10250,hmmpanther:PTHR21420:SF3,hmmpanther:PTHR21420	.	.	ENSP00000364902	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000375749	Transcript	1	.	ENSG00000101346	14988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OFUT1_HUMAN	POFUT1	HGNC	B4DUV4_HUMAN	.	UPI0000130C42	SNV	POFUT1,missense_variant,p.Pro118His,ENST00000375730,;POFUT1,missense_variant,p.Pro118His,ENST00000375749,;POFUT1,intron_variant,,ENST00000539210,;POFUT1,non_coding_transcript_exon_variant,,ENST00000486717,;POFUT1,upstream_gene_variant,,ENST00000465791,;	415	129	157	SUCCESS
MORC3	23515	.	GRCh37	21	37710242	37710242	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs749097378	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	25	160	1	ENST00000400485.1:c.458A>G	p.His153Arg	p.H153R	ENST00000400485	NM_015358.2	153	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS42924.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCACCATA	NONE	.	.	hmmpanther:PTHR23336:SF12,hmmpanther:PTHR23336	.	.	ENSP00000383333	.	4/17	.	.	.	.	.	.	.	.	rs749097378	4/17	PASS	ENST00000400485	Transcript	.	.	ENSG00000159256	23572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.56)	.	MORC3_HUMAN	MORC3	HGNC	Q86YD6_HUMAN,H0YHQ4_HUMAN,B4DHJ4_HUMAN,A2RU29_HUMAN	.	UPI0000167F94	SNV	MORC3,missense_variant,p.His153Arg,ENST00000400485,;MORC3,splice_region_variant,,ENST00000487909,;MORC3,splice_region_variant,,ENST00000492336,;MORC3,downstream_gene_variant,,ENST00000485933,;	534	161	110	SUCCESS
CABIN1	23523	.	GRCh37	22	24439435	24439435	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753351557	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	49	74	0	ENST00000263119.5:c.415C>T	p.Arg139Trp	p.R139W	ENST00000263119	NM_012295.3	139	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS13823.1	415	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCGGATC	NONE	byFrequency	.	Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF13414,hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000381364	.	6/37	.	.	.	.	.	.	.	.	rs753351557	6/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.Arg94Trp,ENST00000445422,;CABIN1,missense_variant,p.Arg139Trp,ENST00000398319,;CABIN1,missense_variant,p.Arg139Trp,ENST00000405822,;CABIN1,missense_variant,p.Arg139Trp,ENST00000263119,;CABIN1,missense_variant,p.Arg94Trp,ENST00000454754,;	800	75	92	SUCCESS
MTFP1	51537	.	GRCh37	22	30823227	30823227	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	66	0	ENST00000266263.5:c.265G>T	p.Ala89Ser	p.A89S	ENST00000266263	NM_016498.4	89	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33635.1	265	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGCTCTA	NONE	.	.	hmmpanther:PTHR11001,Pfam_domain:PF10558	.	.	ENSP00000266263	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000266263	Transcript	.	.	ENSG00000242114	26945	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.74)	.	MTFP1_HUMAN	MTFP1	HGNC	.	.	UPI000000DB3E	SNV	MTFP1,missense_variant,p.Ala66Ser,ENST00000407550,;MTFP1,missense_variant,p.Ala89Ser,ENST00000266263,;RP4-539M6.19,missense_variant,p.Ala261Ser,ENST00000439838,;MTFP1,intron_variant,,ENST00000355143,;RP4-539M6.19,intron_variant,,ENST00000439023,;SEC14L2,downstream_gene_variant,,ENST00000312932,;SEC14L2,downstream_gene_variant,,ENST00000402592,;SEC14L2,downstream_gene_variant,,ENST00000403484,;MTFP1,3_prime_UTR_variant,,ENST00000412752,;RP4-539M6.19,intron_variant,,ENST00000454552,;SEC14L2,downstream_gene_variant,,ENST00000467218,;SEC14L2,downstream_gene_variant,,ENST00000478762,;MTFP1,downstream_gene_variant,,ENST00000489658,;	615	66	38	SUCCESS
TCF20	6942	.	GRCh37	22	42607116	42607116	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	123	0	ENST00000359486.3:c.4196C>A	p.Ala1399Asp	p.A1399D	ENST00000359486	NM_005650.2	1399	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS14033.1	4196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGCAACA	NONE	.	.	hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Ala1399Asp,ENST00000335626,;TCF20,missense_variant,p.Ala1399Asp,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	4333	123	79	SUCCESS
DPP10	57628	.	GRCh37	2	115200188	115200188	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	17	0	ENST00000410059.1:c.-168C>T		p.*56*	ENST00000410059	NM_001178037.1			0	.	.	.	.	.	T	.	protein_coding	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTCAGCCT	NONE	.	.	.	.	.	ENSP00000391092	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000436732	Transcript	.	.	ENSG00000175497	20823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPP10	HGNC	C9J4M8_HUMAN	.	UPI00018816AD	SNV	DPP10,5_prime_UTR_variant,,ENST00000436732,;DPP10,5_prime_UTR_variant,,ENST00000410059,;	313	17	15	SUCCESS
SAP130	79595	.	GRCh37	2	128757662	128757662	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	153	0	ENST00000259235.3:c.1154C>T	p.Ala385Val	p.A385V	ENST00000259235	NM_024545.3	385	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS54397.1	1154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGCCAAA	NONE	.	.	hmmpanther:PTHR13497	.	.	ENSP00000350333	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000357702	Transcript	.	.	ENSG00000136715	29813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.55)	.	deleterious_low_confidence(0.04)	.	SP130_HUMAN	SAP130	HGNC	Q96DP1_HUMAN,C9J683_HUMAN	.	UPI00005989D6	SNV	SAP130,missense_variant,p.Ala385Val,ENST00000259235,;SAP130,missense_variant,p.Ala359Val,ENST00000259234,;SAP130,missense_variant,p.Ala385Val,ENST00000357702,;	1286	153	108	SUCCESS
LRP1B	53353	.	GRCh37	2	142012194	142012194	+	synonymous_variant	Silent	SNP	G	G	A	rs1227880917	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	58	0	ENST00000389484.3:c.360C>T	p.Cys120=	p.C120=	ENST00000389484	NM_018557.2	120	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS2182.1	360	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGCAATT	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000374135	.	4/91	.	.	.	.	.	.	.	.	.	4/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,synonymous_variant,p.%3D,ENST00000389484,;LRP1B,intron_variant,,ENST00000434794,;	1332	58	55	SUCCESS
RND3	390	.	GRCh37	2	151326663	151326663	+	synonymous_variant	Silent	SNP	G	G	A	rs141846981	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	93	0	ENST00000263895.4:c.573C>T	p.His191=	p.H191=	ENST00000263895	NM_005168.4	191	caC/caT	0	A:0	.	.	.	.	A	H	protein_coding	YES	CCDS2190.1	573	MUTECT|MUSE	.	GCAACGTGAAA	NONE	byFrequency|byCluster	.	Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Gene3D:3.40.50.300,Pfam_domain:PF00071,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF24,PROSITE_profiles:PS51420	.	A:0.0005	ENSP00000364886	.	5/5	.	.	.	.	.	.	.	.	rs141846981	5/5	PASS	ENST00000375734	Transcript	.	.	ENSG00000115963	671	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RND3_HUMAN	RND3	HGNC	Q6FGN7_HUMAN,Q53RZ3_HUMAN,Q4ZFY0_HUMAN,E9PFH1_HUMAN,B4DSG7_HUMAN	.	UPI0000003FE9	SNV	RND3,synonymous_variant,p.%3D,ENST00000375734,;RND3,synonymous_variant,p.%3D,ENST00000409557,;RND3,synonymous_variant,p.%3D,ENST00000263895,;RND3,downstream_gene_variant,,ENST00000439275,;RND3,downstream_gene_variant,,ENST00000454202,;RND3,downstream_gene_variant,,ENST00000472416,;RND3,non_coding_transcript_exon_variant,,ENST00000497865,;RND3,non_coding_transcript_exon_variant,,ENST00000473639,;RND3,downstream_gene_variant,,ENST00000466334,;	823	93	42	SUCCESS
LRP2	4036	.	GRCh37	2	170058158	170058158	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs760322706	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	54	0	ENST00000263816.3:c.8432C>A	p.Thr2811Asn	p.T2811N	ENST00000263816	NM_004525.2	2811	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS2232.1	8432	MUTECT|MUSE	.	CTGAAGTGTTA	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	.	.	ENSP00000263816	.	44/79	.	.	.	.	.	.	.	.	rs760322706	44/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Thr2811Asn,ENST00000263816,;	8718	54	46	SUCCESS
SCRN3	79634	.	GRCh37	2	175289262	175289262	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs867933939	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	112	317	0	ENST00000272732.6:c.977C>T	p.Ser326Leu	p.S326L	ENST00000272732	NM_024583.4	326	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS2258.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTCACCAA	NONE	.	.	hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF18	.	.	ENSP00000272732	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000272732	Transcript	.	.	ENSG00000144306	30382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	SCRN3_HUMAN	SCRN3	HGNC	H9KVC8_HUMAN,F8W0M9_HUMAN,C9JNS3_HUMAN,C9JID8_HUMAN	.	UPI00002090F8	SNV	SCRN3,missense_variant,p.Ser326Leu,ENST00000272732,;SCRN3,missense_variant,p.Ser319Leu,ENST00000409673,;SCRN3,non_coding_transcript_exon_variant,,ENST00000475928,;SCRN3,non_coding_transcript_exon_variant,,ENST00000549848,;SCRN3,non_coding_transcript_exon_variant,,ENST00000548921,;SCRN3,non_coding_transcript_exon_variant,,ENST00000490927,;SCRN3,3_prime_UTR_variant,,ENST00000548868,;SCRN3,3_prime_UTR_variant,,ENST00000437944,;	1059	317	243	SUCCESS
TTN	7273	.	GRCh37	2	179448455	179448455	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	18	117	0	ENST00000591111.1:c.60531G>T	p.Glu20177Asp	p.E20177D	ENST00000591111		20177	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS59435.1	65454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTACTCTTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	312/363	.	.	.	.	.	.	.	.	.	312/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu12878Asp,ENST00000359218,;TTN,missense_variant,p.Glu20177Asp,ENST00000591111,;TTN,missense_variant,p.Glu21818Asp,ENST00000589042,;TTN,missense_variant,p.Glu12945Asp,ENST00000342175,;TTN,missense_variant,p.Glu19250Asp,ENST00000342992,;TTN,missense_variant,p.Glu12753Asp,ENST00000460472,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586707,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000438095,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;	65679	117	101	SUCCESS
AOX1	316	.	GRCh37	2	201462230	201462230	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	49	0	ENST00000374700.2:c.309+2T>G		p.X103_splice	ENST00000374700	NM_001159.3	103		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33360.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGTGAGGA	NONE	.	.	.	.	.	ENSP00000363832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	HIGH	4/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,splice_donor_variant,,ENST00000454629,;AOX1,splice_donor_variant,,ENST00000374700,;	.	49	32	SUCCESS
STRADB	55437	.	GRCh37	2	202342494	202342494	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	66	0	ENST00000194530.3:c.701G>C	p.Ser234Thr	p.S234T	ENST00000194530	NM_001206864.1	234	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS2348.1	701	MUTECT|MUSE	.	GCTGAGTCCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF93,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000194530	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000194530	Transcript	.	.	ENSG00000082146	13205	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	STRAB_HUMAN	STRADB	HGNC	.	.	UPI0000070BA5	SNV	STRADB,missense_variant,p.Ser234Thr,ENST00000194530,;STRADB,missense_variant,p.Ser179Thr,ENST00000458269,;STRADB,missense_variant,p.Ser234Thr,ENST00000392249,;STRADB,upstream_gene_variant,,ENST00000415688,;STRADB,non_coding_transcript_exon_variant,,ENST00000468123,;STRADB,non_coding_transcript_exon_variant,,ENST00000498648,;STRADB,upstream_gene_variant,,ENST00000466770,;STRADB,downstream_gene_variant,,ENST00000447698,;STRADB,downstream_gene_variant,,ENST00000484098,;	1066	66	52	SUCCESS
ABCA12	26154	.	GRCh37	2	215840618	215840618	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	33	198	0	ENST00000272895.7:c.5272G>T	p.Val1758Phe	p.V1758F	ENST00000272895	NM_173076.2	1758	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS33372.1	5272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAACAAAGA	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	.	.	ENSP00000272895	.	34/53	.	.	.	.	.	.	.	.	COSM4091033,COSM4091034	34/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.Val1440Phe,ENST00000389661,;ABCA12,missense_variant,p.Val1758Phe,ENST00000272895,;	5492	198	167	SUCCESS
SRD5A2	6716	.	GRCh37	2	31805916	31805916	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs769913545	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	296	99	584	1	ENST00000405650.1:n.221C>A		p.*74*	ENST00000405650				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCGACCAA	NONE	byFrequency	.	.	.	.	.	.	1/5	.	.	.	.	.	.	.	.	rs769913545	1/5	PASS	ENST00000405650	Transcript	.	.	ENSG00000049319	11285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SRD5A2	HGNC	.	.	.	SNV	SRD5A2,non_coding_transcript_exon_variant,,ENST00000233139,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000405650,;	221	585	396	SUCCESS
ALLC	55821	.	GRCh37	2	3750104	3750104	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	58	298	1	ENST00000252505.3:c.1127G>A	p.Arg376Gln	p.R376Q	ENST00000252505	NM_018436.3	376	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS46223.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGGGAGA	NONE	.	.	hmmpanther:PTHR12045	.	.	ENSP00000252505	.	12/12	.	.	.	.	.	.	.	.	COSM3798997	12/12	PASS	ENST00000252505	Transcript	.	.	ENSG00000151360	17377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.061)	.	tolerated_low_confidence(0.17)	1	ALLC_HUMAN	ALLC	HGNC	B4DY77_HUMAN	.	UPI000050BBEF	SNV	ALLC,missense_variant,p.Arg376Gln,ENST00000252505,;DCDC2C,upstream_gene_variant,,ENST00000423741,;AC010907.5,downstream_gene_variant,,ENST00000441632,;ALLC,downstream_gene_variant,,ENST00000471711,;ALLC,non_coding_transcript_exon_variant,,ENST00000476389,;	1289	299	232	SUCCESS
PRKCE	5581	.	GRCh37	2	45879111	45879111	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	36	0	ENST00000306156.3:c.-129A>T		p.*43*	ENST00000306156	NM_005400.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1824.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTAGGGAG	NONE	.	.	.	.	.	ENSP00000306124	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000306156	Transcript	.	.	ENSG00000171132	9401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCE_HUMAN	PRKCE	HGNC	Q53RT0_HUMAN,L7RTI5_HUMAN,C9JR22_HUMAN	.	UPI000012DF6B	SNV	PRKCE,5_prime_UTR_variant,,ENST00000306156,;PRKCE,5_prime_UTR_variant,,ENST00000421201,;PRKCE,upstream_gene_variant,,ENST00000462720,;PRKCE,upstream_gene_variant,,ENST00000480453,;	199	36	22	SUCCESS
FAM161A	84140	.	GRCh37	2	62069387	62069387	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	75	0	ENST00000405894.3:c.292A>C	p.Lys98Gln	p.K98Q	ENST00000405894	NM_032180.2	98	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS56120.1	292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTTCTTGA	NONE	.	.	hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF3	.	.	ENSP00000385158	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000404929	Transcript	.	.	ENSG00000170264	25808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	F161A_HUMAN	FAM161A	HGNC	.	.	UPI00006C0438	SNV	FAM161A,missense_variant,p.Lys98Gln,ENST00000405894,;FAM161A,missense_variant,p.Lys98Gln,ENST00000404929,;FAM161A,missense_variant,p.Lys98Gln,ENST00000456262,;FAM161A,missense_variant,p.Lys94Gln,ENST00000418113,;FAM161A,3_prime_UTR_variant,,ENST00000307507,;FAM161A,upstream_gene_variant,,ENST00000496369,;	304	75	75	SUCCESS
VPS54	51542	.	GRCh37	2	64139769	64139769	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	341	10	543	0	ENST00000272322.4:c.2449A>T	p.Ile817Phe	p.I817F	ENST00000272322		817	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS33208.1	2449	MUTECT|MUSE	.	CACAATTAACT	NONE	.	.	hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965,Pfam_domain:PF07928	.	.	ENSP00000272322	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.875)	.	tolerated(0.08)	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,missense_variant,p.Ile664Phe,ENST00000354504,;VPS54,missense_variant,p.Ile817Phe,ENST00000272322,;VPS54,missense_variant,p.Ile805Phe,ENST00000409558,;VPS54,3_prime_UTR_variant,,ENST00000416400,;	2604	543	352	SUCCESS
ZBTB11	27107	.	GRCh37	3	101370476	101370476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	55	0	ENST00000312938.4:c.2696G>T	p.Arg899Leu	p.R899L	ENST00000312938	NM_014415.3	899	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2943.1	2696	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCGGGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF4,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000326200	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000312938	Transcript	.	.	ENSG00000066422	16740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	ZBT11_HUMAN	ZBTB11	HGNC	Q59H97_HUMAN,B3KN38_HUMAN	.	UPI000013D5E3	SNV	ZBTB11,missense_variant,p.Arg899Leu,ENST00000312938,;Y_RNA,downstream_gene_variant,,ENST00000364641,;ZBTB11,downstream_gene_variant,,ENST00000471673,;	3277	55	62	SUCCESS
C3orf22	152065	.	GRCh37	3	126272260	126272260	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	50	0	ENST00000318225.2:c.-27G>T		p.*9*	ENST00000318225	NM_152533.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3040.1	.	RADIA|MUTECT|MUSE	.	GCACACCTCTC	NONE	.	.	.	.	.	ENSP00000316644	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000318225	Transcript	.	.	ENSG00000180697	28534	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC022_HUMAN	C3orf22	HGNC	.	.	UPI000006D113	SNV	C3orf22,5_prime_UTR_variant,,ENST00000318225,;C3orf22,5_prime_UTR_variant,,ENST00000505070,;	353	50	39	SUCCESS
KBTBD12	166348	.	GRCh37	3	127642047	127642047	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771093181	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	213	44	303	0	ENST00000405109.1:c.143T>A	p.Val48Asp	p.V48D	ENST00000405109		48	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS33848.2	143	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGTCCTGG	NONE	byFrequency	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000385957	.	2/6	.	.	.	.	.	.	.	.	rs771093181	2/6	PASS	ENST00000405109	Transcript	.	.	ENSG00000187715	25731	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	KBTBC_HUMAN	KBTBD12	HGNC	B5MCZ4_HUMAN	.	UPI00001D802F	SNV	KBTBD12,missense_variant,p.Val48Asp,ENST00000405256,;KBTBD12,missense_variant,p.Val48Asp,ENST00000405109,;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,upstream_gene_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;	610	303	257	SUCCESS
BCHE	590	.	GRCh37	3	165548304	165548304	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	60	208	0	ENST00000264381.3:c.518A>G	p.Asn173Ser	p.N173S	ENST00000264381	NM_000055.2	173	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS3198.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGTTCATT	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559:SF154,hmmpanther:PTHR11559	.	.	ENSP00000264381	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000264381	Transcript	.	.	ENSG00000114200	983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.04)	.	CHLE_HUMAN	BCHE	HGNC	Q96HL2_HUMAN,F8WF14_HUMAN,D3DNN4_HUMAN	.	UPI0000127866	SNV	BCHE,missense_variant,p.Asn173Ser,ENST00000264381,;BCHE,intron_variant,,ENST00000540653,;BCHE,intron_variant,,ENST00000479451,;BCHE,intron_variant,,ENST00000488954,;BCHE,missense_variant,p.Asn173Ser,ENST00000482958,;BCHE,missense_variant,p.Asn173Ser,ENST00000497011,;	685	209	142	SUCCESS
MAGEF1	64110	.	GRCh37	3	184429511	184429511	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	41	140	1	ENST00000317897.3:c.99G>A	p.Ser33=	p.S33=	ENST00000317897	NM_022149.4	33	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3269.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCGAGGC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF61	.	.	ENSP00000315064	.	1/1	.	.	.	.	.	.	.	.	COSM1421401	1/1	PASS	ENST00000317897	Transcript	.	.	ENSG00000177383	29639	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MAGF1_HUMAN	MAGEF1	HGNC	.	.	UPI0000140198	SNV	MAGEF1,synonymous_variant,p.%3D,ENST00000317897,;	326	141	87	SUCCESS
SNORA63	6043	.	GRCh37	3	186505136	186505136	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	116	0	ENST00000363450.1:n.48T>C		p.*16*	ENST00000363450	NR_002586.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3282.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGTTCCCCC	NONE	.	.	.	.	.	ENSP00000326381	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323963	Transcript	.	.	ENSG00000156976	3284	.	.	MODIFIER	8/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4A2_HUMAN	EIF4A2	HGNC	Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN	.	UPI0000000DD2	SNV	EIF4A2,intron_variant,,ENST00000323963,;EIF4A2,intron_variant,,ENST00000356531,;EIF4A2,intron_variant,,ENST00000440191,;RFC4,downstream_gene_variant,,ENST00000296273,;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000441007,;EIF4A2,downstream_gene_variant,,ENST00000498746,;RFC4,downstream_gene_variant,,ENST00000392481,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA63,non_coding_transcript_exon_variant,,ENST00000363450,;SNORA81,downstream_gene_variant,,ENST00000408493,;SNORA63,downstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,;SNORA4,upstream_gene_variant,,ENST00000584302,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475653,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000494445,;EIF4A2,intron_variant,,ENST00000497177,;EIF4A2,intron_variant,,ENST00000475409,;EIF4A2,intron_variant,,ENST00000426808,;EIF4A2,intron_variant,,ENST00000443963,;EIF4A2,intron_variant,,ENST00000468362,;EIF4A2,intron_variant,,ENST00000429589,;EIF4A2,intron_variant,,ENST00000492144,;EIF4A2,intron_variant,,ENST00000425053,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000465267,;EIF4A2,downstream_gene_variant,,ENST00000486805,;RFC4,downstream_gene_variant,,ENST00000460408,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000496382,;EIF4A2,downstream_gene_variant,,ENST00000465792,;EIF4A2,downstream_gene_variant,,ENST00000466362,;EIF4A2,upstream_gene_variant,,ENST00000461021,;RFC4,downstream_gene_variant,,ENST00000494047,;	.	117	72	SUCCESS
SCN10A	6336	.	GRCh37	3	38830494	38830494	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	13	101	0	ENST00000449082.2:c.423G>A	p.Leu141=	p.L141=	ENST00000449082	NM_006514.2	141	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33736.1	423	RADIA|MUTECT|MUSE|VARSCANS	.	TTAACCAAAAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000390600	.	3/27	.	.	.	.	.	.	.	.	COSM3714625	3/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,synonymous_variant,p.%3D,ENST00000449082,;	423	101	120	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	80	141	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	141	159	SUCCESS
NFKB1	4790	.	GRCh37	4	103499967	103499967	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	64	0	ENST00000394820.4:c.569-71T>C		p.*190*	ENST00000394820				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3657.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTTTATA	NONE	.	.	.	.	.	ENSP00000226574	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000226574	Transcript	.	.	ENSG00000109320	7794	.	.	MODIFIER	7/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFKB1_HUMAN	NFKB1	HGNC	D6RF93_HUMAN,D6RC45_HUMAN	.	UPI0000192724	SNV	NFKB1,5_prime_UTR_variant,,ENST00000600343,;NFKB1,intron_variant,,ENST00000505458,;NFKB1,intron_variant,,ENST00000394820,;NFKB1,intron_variant,,ENST00000508584,;NFKB1,intron_variant,,ENST00000226574,;NFKB1,downstream_gene_variant,,ENST00000507079,;NFKB1,downstream_gene_variant,,ENST00000509165,;NFKB1,intron_variant,,ENST00000513803,;NFKB1,intron_variant,,ENST00000510638,;	.	64	51	SUCCESS
GSTCD	79807	.	GRCh37	4	106638934	106638934	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	86	259	0	ENST00000360505.5:c.164A>T	p.Glu55Val	p.E55V	ENST00000360505	NM_001031720.3	55	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS43257.1	164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGAGGTGA	NONE	.	.	hmmpanther:PTHR13369:SF0,hmmpanther:PTHR13369	.	.	ENSP00000422354	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000515279	Transcript	.	.	ENSG00000138780	25806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	deleterious(0.02)	.	GSTCD_HUMAN	GSTCD	HGNC	D6RCC9_HUMAN,D6RCC4_HUMAN,D6R949_HUMAN	.	UPI0000141636	SNV	GSTCD,missense_variant,p.Glu55Val,ENST00000360505,;GSTCD,missense_variant,p.Glu55Val,ENST00000507281,;GSTCD,missense_variant,p.Glu55Val,ENST00000515279,;GSTCD,missense_variant,p.Glu55Val,ENST00000394728,;GSTCD,missense_variant,p.Glu55Val,ENST00000509336,;GSTCD,missense_variant,p.Glu55Val,ENST00000510865,;GSTCD,missense_variant,p.Glu55Val,ENST00000394730,;INTS12,intron_variant,,ENST00000510876,;GSTCD,downstream_gene_variant,,ENST00000512828,;GSTCD,intron_variant,,ENST00000515255,;GSTCD,splice_region_variant,,ENST00000503409,;GSTCD,non_coding_transcript_exon_variant,,ENST00000484843,;	384	259	245	SUCCESS
PITX2	5308	.	GRCh37	4	111543517	111543517	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	324	84	476	0	ENST00000354925.2:c.185-992G>T		p.*62*	ENST00000354925	NM_001204397.1	34		0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3694.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCTAACG	NONE	.	.	hmmpanther:PTHR24329:SF287,hmmpanther:PTHR24329,PIRSF_domain:PIRSF000563	.	.	ENSP00000304169	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000306732	Transcript	1	.	ENSG00000164093	9005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.65)	.	PITX2_HUMAN	PITX2	HGNC	.	.	UPI000002B122	SNV	PITX2,missense_variant,p.Ala34Ser,ENST00000557119,;PITX2,missense_variant,p.Ala34Ser,ENST00000306732,;PITX2,intron_variant,,ENST00000394598,;PITX2,intron_variant,,ENST00000394595,;PITX2,intron_variant,,ENST00000354925,;PITX2,intron_variant,,ENST00000511990,;PITX2,intron_variant,,ENST00000355080,;PITX2,intron_variant,,ENST00000511837,;PITX2,upstream_gene_variant,,ENST00000556049,;PITX2,upstream_gene_variant,,ENST00000607868,;	743	476	408	SUCCESS
SYNPO2	171024	.	GRCh37	4	119951690	119951690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	24	127	0	ENST00000429713.2:c.1760G>T	p.Arg587Ile	p.R587I	ENST00000429713	NM_001128933.1	587	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS34054.1	1760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAGAACGG	NONE	.	.	hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,missense_variant,p.Arg587Ile,ENST00000434046,;SYNPO2,missense_variant,p.Arg587Ile,ENST00000307142,;SYNPO2,missense_variant,p.Arg587Ile,ENST00000429713,;SYNPO2,missense_variant,p.Arg539Ile,ENST00000504178,;SYNPO2,intron_variant,,ENST00000448416,;	1956	127	128	SUCCESS
MAB21L2	10586	.	GRCh37	4	151505054	151505054	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	53	146	0	ENST00000317605.4:c.873G>A	p.Trp291Ter	p.W291*	ENST00000317605	NM_006439.4	291	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS3774.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGGACGA	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656:SF37,hmmpanther:PTHR10656,PROSITE_profiles:PS50231	.	.	ENSP00000324701	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317605	Transcript	1	.	ENSG00000181541	6758	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MB212_HUMAN	MAB21L2	HGNC	.	.	UPI000007290D	SNV	MAB21L2,stop_gained,p.Trp291Ter,ENST00000317605,;LRBA,intron_variant,,ENST00000510413,;LRBA,intron_variant,,ENST00000509835,;LRBA,intron_variant,,ENST00000535741,;LRBA,intron_variant,,ENST00000357115,;LRBA,intron_variant,,ENST00000507224,;RP11-1336O20.2,downstream_gene_variant,,ENST00000507934,;LRBA,intron_variant,,ENST00000513021,;LRBA,upstream_gene_variant,,ENST00000503716,;	1978	146	140	SUCCESS
WDR19	57728	.	GRCh37	4	39254852	39254852	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	20	126	0	ENST00000399820.3:c.2816A>G	p.Glu939Gly	p.E939G	ENST00000399820	NM_025132.3	939	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47042.1	2816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAAAAAG	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	.	.	ENSP00000382717	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000399820	Transcript	1	.	ENSG00000157796	18340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.105)	.	deleterious(0.03)	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,missense_variant,p.Glu779Gly,ENST00000288634,;WDR19,missense_variant,p.Glu939Gly,ENST00000399820,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;	2970	126	81	SUCCESS
OCIAD2	132299	.	GRCh37	4	48901944	48901944	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	98	0	ENST00000508632.1:c.67-2A>G		p.X23_splice	ENST00000508632	NM_001014446.1	23		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33981.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCTGTAAG	NONE	.	.	.	.	.	ENSP00000423014	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000508632	Transcript	.	.	ENSG00000145247	28685	.	.	HIGH	2/6	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OCAD2_HUMAN	OCIAD2	HGNC	J3KPI9_HUMAN	.	UPI000015C18E	SNV	OCIAD2,splice_acceptor_variant,,ENST00000508632,;OCIAD2,splice_acceptor_variant,,ENST00000273860,;OCIAD2,splice_acceptor_variant,,ENST00000381464,;OCIAD2,intron_variant,,ENST00000506226,;OCIAD2,intron_variant,,ENST00000508069,;OCIAD2,upstream_gene_variant,,ENST00000512087,;OCIAD2,upstream_gene_variant,,ENST00000514155,;OCIAD2,splice_acceptor_variant,,ENST00000514576,;OCIAD2,splice_acceptor_variant,,ENST00000510159,;	.	98	70	SUCCESS
EVC2	132884	.	GRCh37	4	5633652	5633652	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	132	0	ENST00000344408.5:c.1578C>T	p.His526=	p.H526=	ENST00000344408	NM_147127.4	526	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS3382.2	1578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGTGAGC	NONE	.	.	hmmpanther:PTHR16795:SF11,hmmpanther:PTHR16795,Pfam_domain:PF12297	.	.	ENSP00000342144	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000344408	Transcript	1	.	ENSG00000173040	19747	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBN_HUMAN	EVC2	HGNC	Q4W5B1_HUMAN,Q4W5A4_HUMAN	.	UPI00001910B5	SNV	EVC2,synonymous_variant,p.%3D,ENST00000344938,;EVC2,synonymous_variant,p.%3D,ENST00000310917,;EVC2,synonymous_variant,p.%3D,ENST00000344408,;EVC2,stop_gained,p.Gln444Ter,ENST00000509670,;EVC2,synonymous_variant,p.%3D,ENST00000475313,;	1632	132	69	SUCCESS
LPHN3	0	.	GRCh37	4	62936333	62936333	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs146722627	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	32	157	0	ENST00000514591.1:c.4117C>G	p.Pro1373Ala	p.P1373A	ENST00000514591		1373	Ccc/Gcc	0	.	T:0.0008	.	T:0	.	G	P/A	protein_coding	YES	CCDS54768.1	4117	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCACCCCAT	NONE	by1000G	.	Pfam_domain:PF02354	T:0	.	ENSP00000422533	T:0	25/25	.	.	.	.	.	.	.	.	rs146722627	25/25	PASS	ENST00000514591	Transcript	.	T:0.0002	ENSG00000150471	20974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	T:0	deleterious_low_confidence(0.04)	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,missense_variant,p.Pro1432Ala,ENST00000507625,;LPHN3,missense_variant,p.Pro1416Ala,ENST00000508946,;LPHN3,missense_variant,p.Pro822Ala,ENST00000502815,;LPHN3,missense_variant,p.Pro1373Ala,ENST00000545650,;LPHN3,missense_variant,p.Pro1484Ala,ENST00000506720,;LPHN3,missense_variant,p.Pro1373Ala,ENST00000514591,;LPHN3,missense_variant,p.Pro1475Ala,ENST00000506746,;LPHN3,missense_variant,p.Pro1407Ala,ENST00000514996,;LPHN3,3_prime_UTR_variant,,ENST00000506700,;LPHN3,3_prime_UTR_variant,,ENST00000509896,;LPHN3,3_prime_UTR_variant,,ENST00000511324,;LPHN3,3_prime_UTR_variant,,ENST00000504896,;LPHN3,3_prime_UTR_variant,,ENST00000508693,;LPHN3,3_prime_UTR_variant,,ENST00000512091,;LPHN3,3_prime_UTR_variant,,ENST00000514157,;LPHN3,3_prime_UTR_variant,,ENST00000507164,;RP11-84A1.3,downstream_gene_variant,,ENST00000504135,;RP11-84A1.3,downstream_gene_variant,,ENST00000509461,;RP11-84A1.3,downstream_gene_variant,,ENST00000506704,;	4446	157	122	SUCCESS
DNAH5	1767	.	GRCh37	5	13894846	13894846	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	97	0	ENST00000265104.4:c.2344G>A	p.Asp782Asn	p.D782N	ENST00000265104	NM_001369.2	782	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3882.1	2344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCACTT	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	16/79	.	.	.	.	.	.	.	.	.	16/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Asp782Asn,ENST00000265104,;CTB-51A17.1,intron_variant,,ENST00000503244,;	2449	98	55	SUCCESS
ATP10B	23120	.	GRCh37	5	160071238	160071238	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756964404	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	103	0	ENST00000327245.5:c.775C>A	p.Gln259Lys	p.Q259K	ENST00000327245	NM_025153.2	259	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS43394.1	775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTGGTCAG	NONE	.	.	Superfamily_domains:0049471,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	9/26	.	.	.	.	.	.	.	.	rs756964404	9/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,missense_variant,p.Gln259Lys,ENST00000327245,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;ATP10B,non_coding_transcript_exon_variant,,ENST00000326831,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;	1622	103	89	SUCCESS
CDH18	1016	.	GRCh37	5	19839234	19839234	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	37	0	ENST00000274170.4:c.-139T>A		p.*47*	ENST00000274170				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3889.1	.	MUTECT|MUSE	.	ATTTAACTGTC	NONE	.	.	.	.	.	ENSP00000425093	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,5_prime_UTR_variant,,ENST00000274170,;CDH18,5_prime_UTR_variant,,ENST00000506372,;CDH18,5_prime_UTR_variant,,ENST00000507958,;CDH18,5_prime_UTR_variant,,ENST00000502796,;CDH18,5_prime_UTR_variant,,ENST00000382275,;CDH18,5_prime_UTR_variant,,ENST00000511273,;CDH18,upstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000507632,;CDH18,non_coding_transcript_exon_variant,,ENST00000511423,;CDH18,downstream_gene_variant,,ENST00000503132,;	853	37	22	SUCCESS
MTMR12	54545	.	GRCh37	5	32230150	32230150	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	105	0	ENST00000382142.3:c.1978A>G	p.Thr660Ala	p.T660A	ENST00000382142	NM_001040446.1	660	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34138.1	1978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTGGCCA	NONE	.	.	hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF37,Pfam_domain:PF12578	.	.	ENSP00000371577	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000382142	Transcript	.	.	ENSG00000150712	18191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.8)	.	MTMRC_HUMAN	MTMR12	HGNC	.	.	UPI00001678D2	SNV	MTMR12,missense_variant,p.Thr660Ala,ENST00000382142,;MTMR12,missense_variant,p.Thr550Ala,ENST00000264934,;MTMR12,missense_variant,p.Thr606Ala,ENST00000280285,;RNU6-1079P,downstream_gene_variant,,ENST00000362861,;MTMR12,downstream_gene_variant,,ENST00000510216,;	2149	105	98	SUCCESS
NPR3	4883	.	GRCh37	5	32711930	32711930	+	synonymous_variant	Silent	SNP	C	C	T	rs1469089363	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	41	143	0	ENST00000265074.8:c.48C>T	p.Gly16=	p.G16=	ENST00000265074	NM_001204375.1	16	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS56357.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGCTGGGC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000265074	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,synonymous_variant,p.%3D,ENST00000265074,;NPR3,synonymous_variant,p.%3D,ENST00000415167,;NPR3,intron_variant,,ENST00000434067,;NPR3,intron_variant,,ENST00000509104,;NPR3,intron_variant,,ENST00000415685,;NPR3,upstream_gene_variant,,ENST00000507141,;NPR3,intron_variant,,ENST00000506712,;	391	143	126	SUCCESS
DAB2	1601	.	GRCh37	5	39392502	39392502	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	56	0	ENST00000320816.6:c.295C>A	p.Leu99Ile	p.L99I	ENST00000320816	NM_001343.3	99	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS34149.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGGGAAA	NONE	.	.	PROSITE_profiles:PS01179,hmmpanther:PTHR11232:SF30,hmmpanther:PTHR11232,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729	.	.	ENSP00000313391	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000320816	Transcript	.	.	ENSG00000153071	2662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	deleterious(0.01)	.	DAB2_HUMAN	DAB2	HGNC	D6RIA5_HUMAN,D6RGZ1_HUMAN,D6REB1_HUMAN	.	UPI0000169E27	SNV	DAB2,missense_variant,p.Leu99Ile,ENST00000509337,;DAB2,missense_variant,p.Leu99Ile,ENST00000339788,;DAB2,missense_variant,p.Leu99Ile,ENST00000320816,;DAB2,missense_variant,p.Leu99Ile,ENST00000545653,;DAB2,downstream_gene_variant,,ENST00000503513,;DAB2,downstream_gene_variant,,ENST00000511792,;DAB2,downstream_gene_variant,,ENST00000515700,;DAB2,non_coding_transcript_exon_variant,,ENST00000512525,;C9,intron_variant,,ENST00000483232,;DAB2,downstream_gene_variant,,ENST00000513052,;DAB2,downstream_gene_variant,,ENST00000515269,;DAB2,missense_variant,p.Leu99Ile,ENST00000507539,;DAB2,upstream_gene_variant,,ENST00000505968,;	763	56	62	SUCCESS
MAP1B	4131	.	GRCh37	5	71496132	71496132	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	64	184	0	ENST00000296755.7:c.6950A>T	p.Asp2317Val	p.D2317V	ENST00000296755	NM_005909.3	2317	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS4012.1	6950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGACAAGG	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Asp2317Val,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	7248	184	165	SUCCESS
LYSMD3	116068	.	GRCh37	5	89815032	89815032	+	synonymous_variant	Silent	SNP	T	T	A	rs774922942	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	18	101	0	ENST00000315948.6:c.525A>T	p.Thr175=	p.T175=	ENST00000315948	NM_198273.1	175	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS43338.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTGTACA	NONE	.	.	hmmpanther:PTHR20932:SF5,hmmpanther:PTHR20932	.	.	ENSP00000314518	.	3/3	.	.	.	.	.	.	.	.	rs774922942	3/3	PASS	ENST00000315948	Transcript	.	.	ENSG00000176018	26969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYSM3_HUMAN	LYSMD3	HGNC	A8K613_HUMAN	.	UPI000015FBC3	SNV	LYSMD3,synonymous_variant,p.%3D,ENST00000315948,;LYSMD3,3_prime_UTR_variant,,ENST00000509384,;LYSMD3,intron_variant,,ENST00000500869,;POLR3G,downstream_gene_variant,,ENST00000504930,;POLR3G,downstream_gene_variant,,ENST00000399107,;LYSMD3,downstream_gene_variant,,ENST00000453259,;	670	101	106	SUCCESS
SEMA5A	9037	.	GRCh37	5	9227034	9227034	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139668453	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	281	225	733	1	ENST00000382496.5:c.379C>T	p.Arg127Trp	p.R127W	ENST00000382496	NM_003966.2	127	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS3875.1	379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCGGTCGC	NONE	byCluster	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	A:0.0002	ENSP00000371936	.	7/23	.	.	.	.	.	.	.	.	rs139668453	7/23	PASS	ENST00000382496	Transcript	1	.	ENSG00000112902	10736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.06)	.	SEM5A_HUMAN	SEMA5A	HGNC	D6RAF4_HUMAN,B4DE33_HUMAN	.	UPI000004F25D	SNV	SEMA5A,missense_variant,p.Arg127Trp,ENST00000513968,;SEMA5A,missense_variant,p.Arg75Trp,ENST00000514923,;SEMA5A,missense_variant,p.Arg127Trp,ENST00000382496,;	1045	734	506	SUCCESS
STXBP5	134957	.	GRCh37	6	147704135	147704135	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	45	111	0	ENST00000321680.6:c.3414+1G>A		p.X1138_splice	ENST00000321680	NM_001127715.2	1138		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47499.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGTACGA	NONE	.	.	.	.	.	ENSP00000321826	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	HIGH	27/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,splice_donor_variant,,ENST00000321680,;STXBP5,splice_donor_variant,,ENST00000367480,;STXBP5,splice_donor_variant,,ENST00000179882,;STXBP5,splice_donor_variant,,ENST00000367481,;RP11-361F15.2,upstream_gene_variant,,ENST00000443556,;	.	111	62	SUCCESS
CRISP1	167	.	GRCh37	6	49806179	49806179	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	93	0	ENST00000335847.4:c.593G>A	p.Cys198Tyr	p.C198Y	ENST00000335847	NM_001131.2	198	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS4931.1	593	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGCAGGCT	NONE	.	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF68,Gene3D:3.40.33.10,Pfam_domain:PF08562,Superfamily_domains:SSF57546	.	.	ENSP00000338276	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000335847	Transcript	.	.	ENSG00000124812	304	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CRIS1_HUMAN	CRISP1	HGNC	.	.	UPI0000128482	SNV	CRISP1,missense_variant,p.Cys198Tyr,ENST00000335847,;CRISP1,missense_variant,p.Cys198Tyr,ENST00000505118,;CRISP1,missense_variant,p.Cys198Tyr,ENST00000355791,;CRISP1,intron_variant,,ENST00000507853,;CRISP1,intron_variant,,ENST00000329411,;CRISP1,intron_variant,,ENST00000536021,;	695	93	122	SUCCESS
GCM1	8521	.	GRCh37	6	52999070	52999070	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	15	122	0	ENST00000259803.7:c.128A>T	p.His43Leu	p.H43L	ENST00000259803	NM_003643.3	43	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS4950.1	128	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTGTTTG	NONE	.	.	Superfamily_domains:0041800,Pfam_domain:PF03615,hmmpanther:PTHR12414,hmmpanther:PTHR12414:SF1,PROSITE_profiles:PS50807	.	.	ENSP00000259803	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000259803	Transcript	.	.	ENSG00000137270	4197	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.839)	.	deleterious(0.03)	.	GCM1_HUMAN	GCM1	HGNC	.	.	UPI0000073F99	SNV	GCM1,missense_variant,p.His43Leu,ENST00000259803,;	340	122	137	SUCCESS
POU3F2	5454	.	GRCh37	6	99283620	99283620	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	24	157	0	ENST00000328345.5:c.871G>A	p.Val291Met	p.V291M	ENST00000328345	NM_005604.3	291	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS5040.1	871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACGTGGGG	NONE	.	.	PROSITE_profiles:PS51179,hmmpanther:PTHR11636:SF79,hmmpanther:PTHR11636,PROSITE_patterns:PS00035,Pfam_domain:PF00157,Gene3D:1.10.260.40,SMART_domains:SM00352,PIRSF_domain:PIRSF002629,Superfamily_domains:SSF47413,Prints_domain:PR00028	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,missense_variant,p.Val291Met,ENST00000328345,;	1041	157	123	SUCCESS
SSPO	0	.	GRCh37	7	149480011	149480011	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	7	85	0	ENST00000378016.2:n.1977C>G		p.*659*	ENST00000378016				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE|VARSCANS	.	GCTTCCTCTGC	NONE	.	.	.	.	.	.	.	15/109	.	.	.	.	.	.	.	.	.	15/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000477518,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,intron_variant,,ENST00000486824,;SSPO,downstream_gene_variant,,ENST00000465080,;SSPO,upstream_gene_variant,,ENST00000475488,;SSPO,upstream_gene_variant,,ENST00000493502,;	1977	85	64	SUCCESS
SSPO	0	.	GRCh37	7	149480083	149480083	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1563087909	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	98	0	ENST00000378016.2:n.2049C>T		p.*683*	ENST00000378016				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACATCACCCT	NONE	.	.	.	.	.	.	.	15/109	.	.	.	.	.	.	.	.	.	15/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000477518,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,intron_variant,,ENST00000486824,;SSPO,downstream_gene_variant,,ENST00000465080,;SSPO,upstream_gene_variant,,ENST00000475488,;SSPO,upstream_gene_variant,,ENST00000493502,;	2049	98	83	SUCCESS
GIMAP4	55303	.	GRCh37	7	150269493	150269493	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	30	163	0	ENST00000255945.2:c.335C>T	p.Pro112Leu	p.P112L	ENST00000255945	NM_018326.2	112	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5904.1	335	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCAGGGC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF04548,Gene3D:3.40.50.300,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF38,PROSITE_profiles:PS51720	.	.	ENSP00000255945	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000255945	Transcript	.	.	ENSG00000133574	21872	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.914)	.	deleterious(0.03)	.	GIMA4_HUMAN	GIMAP4	HGNC	.	.	UPI0000073CB0	SNV	GIMAP4,missense_variant,p.Pro112Leu,ENST00000255945,;GIMAP4,missense_variant,p.Pro126Leu,ENST00000479232,;GIMAP4,missense_variant,p.Pro126Leu,ENST00000461940,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000478135,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;	510	163	192	SUCCESS
KCNH2	3757	.	GRCh37	7	150649763	150649763	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199472901	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	124	0	ENST00000262186.5:c.1307C>T	p.Thr436Met	p.T436M	ENST00000262186	NM_000238.3	436	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS5910.1	1307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CTTCCGTCTCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000262186	.	6/15	.	.	.	.	.	.	.	.	rs199472901,CM993712,LQTS_NM_000238.2:c.1307C>T	6/15	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0	.	16432067,11854117,9927399	benign(0.172)	.	tolerated(0.15)	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,missense_variant,p.Thr436Met,ENST00000262186,;KCNH2,missense_variant,p.Thr96Met,ENST00000330883,;KCNH2,missense_variant,p.Thr436Met,ENST00000430723,;KCNH2,missense_variant,p.Thr340Met,ENST00000392968,;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	1709	124	55	SUCCESS
HOXA4	3201	.	GRCh37	7	27170333	27170333	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753562339	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	36	268	0	ENST00000360046.5:c.20T>C	p.Leu7Ser	p.L7S	ENST00000360046	NM_002141.4	7	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS5405.1	20	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCAAAAAC	NONE	.	.	hmmpanther:PTHR24326:SF111,hmmpanther:PTHR24326	.	.	ENSP00000353151	.	1/2	.	.	.	.	.	.	.	.	rs753562339	1/2	PASS	ENST00000360046	Transcript	.	.	ENSG00000197576	5105	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.587)	.	deleterious(0)	.	HXA4_HUMAN	HOXA4	HGNC	.	.	UPI000013C810	SNV	HOXA4,missense_variant,p.Leu7Ser,ENST00000360046,;HOXA4,missense_variant,p.Leu7Ser,ENST00000428284,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,intron_variant,,ENST00000521779,;HOXA4,upstream_gene_variant,,ENST00000511914,;HOXA3,upstream_gene_variant,,ENST00000317201,;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;	86	268	225	SUCCESS
URGCP	55665	.	GRCh37	7	43921551	43921551	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	10	83	0	ENST00000453200.1:c.118G>T	p.Glu40Ter	p.E40*	ENST00000453200		40	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS47578.1	118	RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCCAAAT	NONE	.	.	hmmpanther:PTHR22796	.	.	ENSP00000396918	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000453200	Transcript	.	.	ENSG00000106608	30890	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	URGCP_HUMAN	URGCP	HGNC	C9JKA8_HUMAN,C9J0W2_HUMAN	.	UPI000020EE9D	SNV	URGCP,stop_gained,p.Glu40Ter,ENST00000453200,;URGCP-MRPS24,stop_gained,p.Glu31Ter,ENST00000603700,;URGCP,stop_gained,p.Glu31Ter,ENST00000402306,;URGCP,stop_gained,p.Glu31Ter,ENST00000446958,;URGCP,5_prime_UTR_variant,,ENST00000447717,;URGCP,5_prime_UTR_variant,,ENST00000336086,;URGCP,5_prime_UTR_variant,,ENST00000455877,;URGCP,5_prime_UTR_variant,,ENST00000443736,;URGCP,5_prime_UTR_variant,,ENST00000223341,;URGCP,5_prime_UTR_variant,,ENST00000426198,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,missense_variant,p.Gly7Val,ENST00000439702,;URGCP,non_coding_transcript_exon_variant,,ENST00000474376,;URGCP,upstream_gene_variant,,ENST00000467410,;	612	83	87	SUCCESS
NACAD	23148	.	GRCh37	7	45121229	45121229	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	79	0	ENST00000490531.2:c.4228C>A	p.Gln1410Lys	p.Q1410K	ENST00000490531	NM_001146334.1	1410	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS47582.1	4228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGCTTGG	NONE	.	.	hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713	.	.	ENSP00000420477	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Gln1410Lys,ENST00000490531,;NACAD,upstream_gene_variant,,ENST00000460409,;	4248	79	65	SUCCESS
ZNF479	90827	.	GRCh37	7	57188071	57188071	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	108	325	0	ENST00000331162.4:c.1051A>G	p.Lys351Glu	p.K351E	ENST00000331162	NM_033273.1	351	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS43590.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTTCTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious(0)	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,missense_variant,p.Lys351Glu,ENST00000331162,;	1322	325	254	SUCCESS
SEMA3E	9723	.	GRCh37	7	83119477	83119477	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777754774	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	90	0	ENST00000307792.3:c.229C>T	p.Leu77Phe	p.L77F	ENST00000307792	NM_012431.2	77	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS34674.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAGGTCCC	NONE	byFrequency	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000303212	.	2/17	.	.	.	.	.	.	.	.	rs777754774	2/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	tolerated(0.71)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Leu17Phe,ENST00000427262,;SEMA3E,missense_variant,p.Leu77Phe,ENST00000307792,;SEMA3E,missense_variant,p.Leu17Phe,ENST00000442159,;SEMA3E,downstream_gene_variant,,ENST00000453333,;	697	90	72	SUCCESS
CROT	54677	.	GRCh37	7	86978406	86978406	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	360	125	532	0	ENST00000331536.3:c.22del	p.Ser8GlnfsTer25	p.S8Qfs*25	ENST00000331536	NM_021151.3	8	Tca/ca	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS47634.1	22	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTAAATCAACT	NONE	.	.	hmmpanther:PTHR22589:SF8,hmmpanther:PTHR22589	.	.	ENSP00000413575	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000419147	Transcript	.	.	ENSG00000005469	2366	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OCTC_HUMAN	CROT	HGNC	B4DT97_HUMAN	.	UPI000020F4C5	deletion	CROT,frameshift_variant,p.Ser8GlnfsTer25,ENST00000442291,;CROT,frameshift_variant,p.Ser8GlnfsTer25,ENST00000331536,;CROT,frameshift_variant,p.Ser8GlnfsTer25,ENST00000419147,;CROT,frameshift_variant,p.Ser8GlnfsTer25,ENST00000412227,;TP53TG1,upstream_gene_variant,,ENST00000432193,;TP53TG1,upstream_gene_variant,,ENST00000421293,;TP53TG1,upstream_gene_variant,,ENST00000416560,;TP53TG1,upstream_gene_variant,,ENST00000542586,;TP53TG1,upstream_gene_variant,,ENST00000610086,;TP53TG1,upstream_gene_variant,,ENST00000359941,;	221	532	485	SUCCESS
PEX1	5189	.	GRCh37	7	92118609	92118609	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	14	91	0	ENST00000248633.4:c.3765G>C	p.Glu1255Asp	p.E1255D	ENST00000248633	NM_000466.2	1255	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS5627.1	3765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCTCAGC	NONE	.	.	hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	.	.	ENSP00000248633	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000248633	Transcript	.	.	ENSG00000127980	8850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.2)	.	PEX1_HUMAN	PEX1	HGNC	Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN	.	UPI0000001C39	SNV	PEX1,missense_variant,p.Glu1255Asp,ENST00000248633,;PEX1,missense_variant,p.Glu933Asp,ENST00000438045,;PEX1,missense_variant,p.Glu1198Asp,ENST00000428214,;AC007566.10,intron_variant,,ENST00000427458,;AC007566.10,upstream_gene_variant,,ENST00000441539,;PEX1,splice_region_variant,,ENST00000484913,;PEX1,splice_region_variant,,ENST00000477342,;PEX1,splice_region_variant,,ENST00000496420,;PEX1,downstream_gene_variant,,ENST00000469417,;	3861	91	109	SUCCESS
CALCR	799	.	GRCh37	7	93055707	93055707	+	synonymous_variant	Silent	SNP	G	G	A	rs138214388	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	93	0	ENST00000359558.2:c.1488C>T	p.Ile496=	p.I496=	ENST00000359558	NM_001164737.1	496	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS55125.1	1488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	GGGATGATCTC	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84	.	.	ENSP00000352561	.	16/16	.	.	.	.	.	.	.	.	rs138214388,COSM106739	16/16	PASS	ENST00000359558	Transcript	.	.	ENSG00000004948	1440	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	.	.	.	1,1	.	CALCR	HGNC	.	.	UPI0001B8380B	SNV	CALCR,synonymous_variant,p.%3D,ENST00000421592,;CALCR,synonymous_variant,p.%3D,ENST00000426151,;CALCR,synonymous_variant,p.%3D,ENST00000394441,;CALCR,synonymous_variant,p.%3D,ENST00000359558,;CALCR,synonymous_variant,p.%3D,ENST00000360249,;CALCR,3_prime_UTR_variant,,ENST00000415529,;CALCR,3_prime_UTR_variant,,ENST00000423724,;	1788	93	76	SUCCESS
EPHX2	2053	.	GRCh37	8	27369359	27369359	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	32	113	0	ENST00000521400.1:c.667A>T	p.Asn223Tyr	p.N223Y	ENST00000521400	NM_001979.5	223	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS6060.1	667	RADIA|MUTECT|MUSE	.	TTCTCAATACC	NONE	.	.	hmmpanther:PTHR10992:SF758,hmmpanther:PTHR10992	.	.	ENSP00000430269	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000521400	Transcript	.	.	ENSG00000120915	3402	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.01)	.	deleterious(0.03)	.	HYES_HUMAN	EPHX2	HGNC	E5RI53_HUMAN	.	UPI0000073FE5	SNV	EPHX2,missense_variant,p.Asn223Tyr,ENST00000518379,;EPHX2,missense_variant,p.Asn157Tyr,ENST00000521780,;EPHX2,missense_variant,p.Asn170Tyr,ENST00000380476,;EPHX2,missense_variant,p.Asn223Tyr,ENST00000521400,;EPHX2,missense_variant,p.Asn182Tyr,ENST00000521684,;EPHX2,intron_variant,,ENST00000517536,;EPHX2,downstream_gene_variant,,ENST00000520666,;EPHX2,non_coding_transcript_exon_variant,,ENST00000521924,;EPHX2,non_coding_transcript_exon_variant,,ENST00000520623,;EPHX2,upstream_gene_variant,,ENST00000523326,;	1097	113	58	SUCCESS
PREX2	80243	.	GRCh37	8	68950408	68950408	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	11	98	0	ENST00000288368.4:c.720T>C	p.Thr240=	p.T240=	ENST00000288368	NM_024870.2	240	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS6201.1	720	RADIA|MUSE|VARSCANS	.	ATCACTGACAC	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000288368	.	7/40	.	.	.	.	.	.	.	.	.	7/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,synonymous_variant,p.%3D,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;	997	98	108	SUCCESS
RUNX1T1	862	.	GRCh37	8	93003931	93003931	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	29	165	0	ENST00000265814.3:c.927C>G	p.His309Gln	p.H309Q	ENST00000265814	NM_001198628.1	309	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS56544.1	960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTGGTGGGC	NONE	.	.	hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	tolerated(0.08)	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.His320Gln,ENST00000436581,;RUNX1T1,missense_variant,p.His309Gln,ENST00000265814,;RUNX1T1,missense_variant,p.His282Gln,ENST00000518844,;RUNX1T1,missense_variant,p.His309Gln,ENST00000523629,;RUNX1T1,missense_variant,p.His272Gln,ENST00000360348,;RUNX1T1,missense_variant,p.His272Gln,ENST00000520724,;RUNX1T1,missense_variant,p.His282Gln,ENST00000396218,;RUNX1T1,missense_variant,p.His272Gln,ENST00000422361,;RUNX1T1,missense_variant,p.His9Gln,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000518361,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520047,;	971	165	154	SUCCESS
TTF1	7270	.	GRCh37	9	135277372	135277373	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs746659855	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	74	0	ENST00000334270.2:c.836dup	p.Lys280GlufsTer10	p.K280Efs*10	ENST00000334270	NM_001205296.1	279	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS6948.1	836-837	INDELOCATOR|VARSCANI	.	TTCTTCTTTTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000333920	.	2/11	.	.	.	.	.	.	.	.	rs746659855	2/11	PASS	ENST00000334270	Transcript	.	.	ENSG00000125482	12397	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTF1_HUMAN	TTF1	HGNC	.	.	UPI00001B55A7	insertion	TTF1,frameshift_variant,p.Lys280GlufsTer10,ENST00000334270,;	876-877	74	64	SUCCESS
SEC16A	9919	.	GRCh37	9	139355726	139355726	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	87	0	ENST00000313050.7:c.4894G>T	p.Asp1632Tyr	p.D1632Y	ENST00000313050	NM_014866.1	1632	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS55351.1	4894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCCTGCA	NONE	.	.	hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7,Pfam_domain:PF12931	.	.	ENSP00000325827	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000313050	Transcript	.	.	ENSG00000148396	29006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	.	SEC16A	HGNC	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN	.	UPI0000F0888B	SNV	SEC16A,missense_variant,p.Asp1454Tyr,ENST00000290037,;SEC16A,missense_variant,p.Asp354Tyr,ENST00000453963,;SEC16A,missense_variant,p.Asp26Tyr,ENST00000277537,;SEC16A,missense_variant,p.Asp1632Tyr,ENST00000313050,;SEC16A,missense_variant,p.Asp1454Tyr,ENST00000431893,;SEC16A,missense_variant,p.Asp1454Tyr,ENST00000371706,;SEC16A,downstream_gene_variant,,ENST00000472305,;	4968	87	61	SUCCESS
IRS4	8471	.	GRCh37	X	107976017	107976017	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	58	86	1	ENST00000372129.2:c.3558C>T	p.Asn1186=	p.N1186=	ENST00000372129	NM_003604.2	1186	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS14544.1	3558	SOMATICSNIPER|VARSCANS	.	CCAGGGTTCGA	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,synonymous_variant,p.%3D,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	3635	88	79	SUCCESS
GPC4	2239	.	GRCh37	X	132548888	132548888	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	149	0	ENST00000370828.3:c.106C>G	p.Leu36Val	p.L36V	ENST00000370828	NM_001448.2	36	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14637.1	106	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGACGTC	NONE	.	.	hmmpanther:PTHR10822:SF25,hmmpanther:PTHR10822,Pfam_domain:PF01153	.	.	ENSP00000359864	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000370828	Transcript	.	.	ENSG00000076716	4452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.84)	.	GPC4_HUMAN	GPC4	HGNC	B4E2C0_HUMAN	.	UPI0000001C14	SNV	GPC4,missense_variant,p.Leu36Val,ENST00000370828,;GPC4,upstream_gene_variant,,ENST00000535467,;	631	149	126	SUCCESS
PNMA3	29944	.	GRCh37	X	152225496	152225496	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	133	0	ENST00000424805.1:c.84G>C	p.Glu28Asp	p.E28D	ENST00000424805		28	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS35435.2	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGAGGACTG	NONE	.	.	hmmpanther:PTHR23095:SF22,hmmpanther:PTHR23095,Pfam_domain:PF14893	.	.	ENSP00000407642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000447306	Transcript	.	.	ENSG00000183837	18742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.419)	.	deleterious(0.01)	.	PNMA3_HUMAN	PNMA3	HGNC	.	.	UPI00002123C6	SNV	PNMA3,missense_variant,p.Glu28Asp,ENST00000447306,;PNMA3,missense_variant,p.Glu28Asp,ENST00000370264,;PNMA3,missense_variant,p.Glu28Asp,ENST00000370265,;PNMA3,missense_variant,p.Glu28Asp,ENST00000424805,;U82670.9,upstream_gene_variant,,ENST00000421099,;	420	133	113	SUCCESS
ARHGAP4	393	.	GRCh37	X	153174961	153174961	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	81	131	0	ENST00000350060.5:c.2443C>T	p.Leu815=	p.L815=	ENST00000350060	NM_001666.4	815	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55540.1	2563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGCCCTG	NONE	.	.	hmmpanther:PTHR14166:SF16,hmmpanther:PTHR14166	.	.	ENSP00000359045	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000370028	Transcript	.	.	ENSG00000089820	674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG04_HUMAN	ARHGAP4	HGNC	Q6PJ34_HUMAN,C9JLA8_HUMAN,C9J5M2_HUMAN	.	UPI000019275E	SNV	ARHGAP4,synonymous_variant,p.%3D,ENST00000454164,;ARHGAP4,synonymous_variant,p.%3D,ENST00000537206,;ARHGAP4,synonymous_variant,p.%3D,ENST00000350060,;ARHGAP4,synonymous_variant,p.%3D,ENST00000393721,;ARHGAP4,synonymous_variant,p.%3D,ENST00000370028,;ARHGAP4,synonymous_variant,p.%3D,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;AVPR2,downstream_gene_variant,,ENST00000358927,;AVPR2,downstream_gene_variant,,ENST00000337474,;AVPR2,downstream_gene_variant,,ENST00000430697,;ARHGAP4,downstream_gene_variant,,ENST00000422918,;AVPR2,downstream_gene_variant,,ENST00000370049,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;ARHGAP4,3_prime_UTR_variant,,ENST00000420383,;ARHGAP4,3_prime_UTR_variant,,ENST00000404127,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000466928,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494397,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494302,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470209,;AVPR2,downstream_gene_variant,,ENST00000434679,;ARHGAP4,downstream_gene_variant,,ENST00000494813,;L1CAM,upstream_gene_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000463905,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;	2621	131	106	SUCCESS
FAM120C	54954	.	GRCh37	X	54209040	54209040	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782026331	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	75	0	ENST00000375180.2:c.592G>A	p.Val198Met	p.V198M	ENST00000375180	NM_017848.4	198	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS14356.1	592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACGATCA	NONE	byFrequency	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF15,Superfamily_domains:SSF88723	.	.	ENSP00000364324	.	1/16	.	.	.	.	.	.	.	.	rs782026331	1/16	PASS	ENST00000375180	Transcript	.	.	ENSG00000184083	16949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.04)	.	F120C_HUMAN	FAM120C	HGNC	.	.	UPI000022DC3D	SNV	FAM120C,missense_variant,p.Val198Met,ENST00000375180,;FAM120C,missense_variant,p.Val198Met,ENST00000328235,;FAM120C,missense_variant,p.Val198Met,ENST00000477084,;FAM120C,non_coding_transcript_exon_variant,,ENST00000497680,;	649	75	81	SUCCESS
POF1B	79983	.	GRCh37	X	84600900	84600900	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	70	0	ENST00000262753.4:c.689T>A	p.Leu230Gln	p.L230Q	ENST00000262753	NM_024921.3	230	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS14452.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACAGTTCA	NONE	.	.	hmmpanther:PTHR22546	.	.	ENSP00000262753	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000262753	Transcript	.	.	ENSG00000124429	13711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	tolerated_low_confidence(0.07)	.	POF1B_HUMAN	POF1B	HGNC	.	.	UPI0000212116	SNV	POF1B,missense_variant,p.Leu230Gln,ENST00000373145,;POF1B,missense_variant,p.Leu230Gln,ENST00000262753,;	835	70	79	SUCCESS
KNDC1	85442	.	GRCh37	10	135015133	135015133	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368551158	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	32	92	0	ENST00000304613.3:c.3118G>T	p.Val1040Leu	p.V1040L	ENST00000304613		1040	Gta/Tta	0	A:0	.	.	.	.	T	V/L	protein_coding	YES	CCDS7674.1	3118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGTAAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	.	A:0.0001	ENSP00000304437	.	17/30	.	.	.	.	.	.	.	.	rs368551158	17/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.17)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Val975Leu,ENST00000368571,;KNDC1,missense_variant,p.Val1040Leu,ENST00000304613,;KNDC1,missense_variant,p.Val1042Leu,ENST00000368572,;	3139	92	105	SUCCESS
TMEM26	219623	.	GRCh37	10	63195964	63195964	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	49	0	ENST00000399298.3:c.234A>G	p.Pro78=	p.P78=	ENST00000399298	NM_178505.6	78	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS41530.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATGGAAC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF09772,hmmpanther:PTHR22168:SF2,hmmpanther:PTHR22168	.	.	ENSP00000382237	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000399298	Transcript	.	.	ENSG00000196932	28550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM26_HUMAN	TMEM26	HGNC	.	.	UPI00001C0B3F	SNV	TMEM26,synonymous_variant,p.%3D,ENST00000399298,;TMEM26,synonymous_variant,p.%3D,ENST00000399293,;TMEM26,upstream_gene_variant,,ENST00000277749,;TMEM26,synonymous_variant,p.%3D,ENST00000503886,;TMEM26,synonymous_variant,p.%3D,ENST00000488505,;	603	49	37	SUCCESS
TBATA	219793	.	GRCh37	10	72541762	72541764	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs756010080	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	61	0	ENST00000299290.1:c.70_72del	p.Lys24del	p.K24del	ENST00000299290	NM_152710.2	24	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS7308.1	70-72	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCTGACTTCTTCT	BUFFER|p.R27C|c.79C>T|3	byFrequency	.	.	.	.	ENSP00000299290	.	4/11	.	.	.	.	.	.	.	.	rs756010080	4/11	PASS	ENST00000299290	Transcript	.	.	ENSG00000166220	23511	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBATA_HUMAN	TBATA	HGNC	.	.	UPI000013E57C	deletion	TBATA,inframe_deletion,p.Lys24del,ENST00000299290,;TBATA,inframe_deletion,p.Lys14del,ENST00000545575,;TBATA,inframe_deletion,p.Lys24del,ENST00000456372,;	460-462	61	66	SUCCESS
NCAM1	4684	.	GRCh37	11	113103884	113103884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	76	0	ENST00000316851.7:c.1508C>T	p.Pro503Leu	p.P503L	ENST00000316851	NM_181351.4	503	cCa/cTa	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	1685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACCATCCA	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,PROSITE_profiles:PS50853	.	.	ENSP00000474028	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000524665	Transcript	.	.	ENSG00000149294	7656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	.	NCAM1	HGNC	S4R389_HUMAN	.	UPI000333505F	SNV	NCAM1,missense_variant,p.Pro548Leu,ENST00000534015,;NCAM1,missense_variant,p.Pro562Leu,ENST00000524665,;NCAM1,missense_variant,p.Pro512Leu,ENST00000401611,;NCAM1,missense_variant,p.Pro385Leu,ENST00000533760,;NCAM1,missense_variant,p.Pro503Leu,ENST00000316851,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000530543,;NCAM1,non_coding_transcript_exon_variant,,ENST00000533073,;NCAM1,non_coding_transcript_exon_variant,,ENST00000526322,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,non_coding_transcript_exon_variant,,ENST00000528590,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,downstream_gene_variant,,ENST00000528742,;NCAM1,missense_variant,p.Pro13Leu,ENST00000531817,;NCAM1,upstream_gene_variant,,ENST00000525355,;NCAM1,downstream_gene_variant,,ENST00000534046,;	1685	76	76	SUCCESS
NLRX1	79671	.	GRCh37	11	119054109	119054109	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	30	0	ENST00000292199.2:c.2889C>A	p.Val963=	p.V963=	ENST00000292199	NM_024618.2	963	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS8416.1	2889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCAGGGC	NONE	.	.	hmmpanther:PTHR24106:SF17,hmmpanther:PTHR24106	.	.	ENSP00000387334	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000409109	Transcript	.	.	ENSG00000160703	29890	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLRX1_HUMAN	NLRX1	HGNC	C9JQE9_HUMAN,C9JLK8_HUMAN,C9J0R6_HUMAN,B7Z889_HUMAN	.	UPI0000161217	SNV	NLRX1,synonymous_variant,p.%3D,ENST00000292199,;NLRX1,synonymous_variant,p.%3D,ENST00000409991,;NLRX1,synonymous_variant,p.%3D,ENST00000409109,;NLRX1,intron_variant,,ENST00000409265,;NLRX1,intron_variant,,ENST00000525863,;PDZD3,upstream_gene_variant,,ENST00000525131,;PDZD3,upstream_gene_variant,,ENST00000392817,;PDZD3,upstream_gene_variant,,ENST00000322712,;PDZD3,upstream_gene_variant,,ENST00000355547,;PDZD3,upstream_gene_variant,,ENST00000531114,;NLRX1,downstream_gene_variant,,ENST00000469103,;PDZD3,upstream_gene_variant,,ENST00000526279,;PDZD3,upstream_gene_variant,,ENST00000527308,;PDZD3,upstream_gene_variant,,ENST00000529573,;PDZD3,upstream_gene_variant,,ENST00000526836,;PDZD3,upstream_gene_variant,,ENST00000529098,;PDZD3,upstream_gene_variant,,ENST00000527028,;PDZD3,upstream_gene_variant,,ENST00000527951,;PDZD3,upstream_gene_variant,,ENST00000528730,;PDZD3,upstream_gene_variant,,ENST00000534790,;NLRX1,downstream_gene_variant,,ENST00000481860,;PDZD3,upstream_gene_variant,,ENST00000533688,;	3476	30	28	SUCCESS
ST14	6768	.	GRCh37	11	130058517	130058517	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749130417	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	56	0	ENST00000278742.5:c.334G>A	p.Glu112Lys	p.E112K	ENST00000278742	NM_021978.3	112	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8487.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGAGTTT	NONE	.	.	Superfamily_domains:0047452,PIRSF_domain:PIRSF036370,Pfam_domain:PF01390,PROSITE_profiles:PS50024	.	.	ENSP00000278742	.	3/19	.	.	.	.	.	.	.	.	rs749130417	3/19	PASS	ENST00000278742	Transcript	.	.	ENSG00000149418	11344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	ST14_HUMAN	ST14	HGNC	Q8WVC1_HUMAN	.	UPI00000012E9	SNV	ST14,missense_variant,p.Glu112Lys,ENST00000278742,;ST14,upstream_gene_variant,,ENST00000530376,;ST14,upstream_gene_variant,,ENST00000524718,;ST14,upstream_gene_variant,,ENST00000530532,;	752	56	49	SUCCESS
IGSF9B	22997	.	GRCh37	11	133790932	133790932	+	synonymous_variant	Silent	SNP	G	G	A	rs749283493	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	42	0	ENST00000321016.8:c.2688C>T	p.Asn896=	p.N896=	ENST00000321016		896	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS61010.1	2688	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCGTTCTC	NONE	byFrequency	.	hmmpanther:PTHR10489:SF575,hmmpanther:PTHR10489	.	.	ENSP00000436552	.	18/20	.	.	.	.	.	.	.	.	rs749283493	18/20	PASS	ENST00000533871	Transcript	.	.	ENSG00000080854	32326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGSF9B	HGNC	G5EA26_HUMAN	.	UPI0002C439DB	SNV	IGSF9B,synonymous_variant,p.%3D,ENST00000533871,;IGSF9B,synonymous_variant,p.%3D,ENST00000321016,;IGSF9B,downstream_gene_variant,,ENST00000527648,;	2919	42	31	SUCCESS
NAT10	55226	.	GRCh37	11	34152419	34152419	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	51	0	ENST00000257829.3:c.1304G>A	p.Ser435Asn	p.S435N	ENST00000257829	NM_024662.2	435	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS7889.1	1304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGCGCCC	NONE	.	.	Pfam_domain:PF05127,hmmpanther:PTHR10925,Low_complexity_(Seg):seg	.	.	ENSP00000257829	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000257829	Transcript	.	.	ENSG00000135372	29830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.09)	.	NAT10_HUMAN	NAT10	HGNC	E9PJN6_HUMAN,E7ESU4_HUMAN	.	UPI000013CF8E	SNV	NAT10,missense_variant,p.Ser363Asn,ENST00000531159,;NAT10,missense_variant,p.Ser435Asn,ENST00000257829,;NAT10,intron_variant,,ENST00000527971,;	1510	51	53	SUCCESS
BRMS1	25855	.	GRCh37	11	66109566	66109566	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	75	0	ENST00000359957.3:c.139+1G>T		p.X47_splice	ENST00000359957	NM_015399.3	47		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACCGGAG	NONE	.	.	.	.	.	ENSP00000396052	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425825	Transcript	.	.	ENSG00000174744	17262	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	BRMS1	HGNC	G5E9I4_HUMAN,E9PJF5_HUMAN	.	UPI0000545267	SNV	BRMS1,splice_donor_variant,,ENST00000359957,;BRMS1,splice_donor_variant,,ENST00000524699,;BRMS1,splice_donor_variant,,ENST00000530756,;BRMS1,splice_donor_variant,,ENST00000425825,;B3GNT1,downstream_gene_variant,,ENST00000311181,;RP11-867G23.12,downstream_gene_variant,,ENST00000526655,;BRMS1,splice_donor_variant,,ENST00000530238,;BRMS1,splice_donor_variant,,ENST00000534617,;BRMS1,splice_donor_variant,,ENST00000527375,;BRMS1,splice_donor_variant,,ENST00000525127,;BRMS1,non_coding_transcript_exon_variant,,ENST00000529544,;	.	75	51	SUCCESS
DNAH10	196385	.	GRCh37	12	124419244	124419244	+	synonymous_variant	Silent	SNP	C	C	T	rs923769823	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	23	98	0	ENST00000409039.3:c.13200C>T	p.Pro4400=	p.P4400=	ENST00000409039	NM_207437.3	4400	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9255.2	13200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCCAAGGT	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000386770	.	77/78	.	.	.	.	.	.	.	.	.	77/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;DNAH10OS,5_prime_UTR_variant,,ENST00000514254,;CCDC92,downstream_gene_variant,,ENST00000545135,;CCDC92,downstream_gene_variant,,ENST00000539551,;CCDC92,downstream_gene_variant,,ENST00000238156,;CCDC92,downstream_gene_variant,,ENST00000539761,;CCDC92,downstream_gene_variant,,ENST00000545891,;CCDC92,downstream_gene_variant,,ENST00000535556,;RP11-380L11.3,downstream_gene_variant,,ENST00000602292,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,downstream_gene_variant,,ENST00000538983,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,downstream_gene_variant,,ENST00000545078,;	13225	98	82	SUCCESS
SLCO1B3	28234	.	GRCh37	12	21008043	21008043	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	31	138	0	ENST00000261196.2:c.166G>A	p.Glu56Lys	p.E56K	ENST00000261196		56	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGAAAGG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF78,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	.	.	ENSP00000441269	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000540229	Transcript	.	.	ENSG00000257046	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	LST3	Uniprot_gn	Q5JAR4_HUMAN,F5H8K0_HUMAN	.	UPI00004A0698	SNV	SLCO1B7,missense_variant,p.Glu56Lys,ENST00000554957,;SLCO1B3,missense_variant,p.Glu56Lys,ENST00000553473,;SLCO1B3,missense_variant,p.Glu56Lys,ENST00000261196,;SLCO1B3,missense_variant,p.Glu56Lys,ENST00000540853,;LST3,missense_variant,p.Glu56Lys,ENST00000540229,;LST3,missense_variant,p.Glu56Lys,ENST00000381541,;SLCO1B3,missense_variant,p.Glu56Lys,ENST00000381545,;SLCO1B3,non_coding_transcript_exon_variant,,ENST00000545880,;	231	138	132	SUCCESS
AKAP3	10566	.	GRCh37	12	4737115	4737115	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs767430945	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	30	104	0	ENST00000228850.1:c.953T>A	p.Leu318Gln	p.L318Q	ENST00000228850		318	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS8531.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGTAGG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,Pfam_domain:PF05716,SMART_domains:SM00807	.	.	ENSP00000440994	.	5/6	.	.	.	.	.	.	.	.	rs767430945	5/6	PASS	ENST00000545990	Transcript	.	.	ENSG00000111254	373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AKAP3_HUMAN	AKAP3	HGNC	F5H7P4_HUMAN,F5H2S4_HUMAN	.	UPI000013C8DF	SNV	AKAP3,missense_variant,p.Leu318Gln,ENST00000545990,;AKAP3,missense_variant,p.Leu318Gln,ENST00000228850,;AKAP3,downstream_gene_variant,,ENST00000540967,;AKAP3,downstream_gene_variant,,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;	1478	104	110	SUCCESS
TROAP	10024	.	GRCh37	12	49723688	49723688	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	7	107	0	ENST00000257909.3:c.1213C>T	p.Leu405=	p.L405=	ENST00000257909	NM_005480.3	405	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8784.1	1213	MUTECT|MUSE	.	GGTCACTGGAG	NONE	.	.	hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3	.	.	ENSP00000257909	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000257909	Transcript	.	.	ENSG00000135451	12327	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TROAP_HUMAN	TROAP	HGNC	F8W052_HUMAN	.	UPI000007108A	SNV	TROAP,synonymous_variant,p.%3D,ENST00000551245,;TROAP,synonymous_variant,p.%3D,ENST00000547923,;TROAP,synonymous_variant,p.%3D,ENST00000257909,;C1QL4,downstream_gene_variant,,ENST00000334221,;TROAP,downstream_gene_variant,,ENST00000551567,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;	1289	107	114	SUCCESS
KRT79	338785	.	GRCh37	12	53223841	53223841	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	23	107	0	ENST00000330553.5:c.821A>C	p.Gln274Pro	p.Q274P	ENST00000330553	NM_175834.2	274	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS8839.1	821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGGGTC	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138	.	.	ENSP00000328358	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	deleterious(0)	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,missense_variant,p.Gln274Pro,ENST00000330553,;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,;	856	107	99	SUCCESS
FAM19A2	0	.	GRCh37	12	62148740	62148740	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	34	135	0	ENST00000416284.3:c.172A>G	p.Ile58Val	p.I58V	ENST00000416284	NM_178539.4	58	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8962.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATCTTGT	NONE	.	.	hmmpanther:PTHR31770:SF4,hmmpanther:PTHR31770,Pfam_domain:PF12020	.	.	ENSP00000393987	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000416284	Transcript	.	.	ENSG00000198673	21589	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.371)	.	tolerated(0.14)	.	F19A2_HUMAN	FAM19A2	HGNC	.	.	UPI000006F642	SNV	FAM19A2,missense_variant,p.Ile59Val,ENST00000548780,;FAM19A2,missense_variant,p.Ile58Val,ENST00000416284,;FAM19A2,missense_variant,p.Ile58Val,ENST00000551619,;FAM19A2,missense_variant,p.Ile65Val,ENST00000549958,;FAM19A2,missense_variant,p.Ile59Val,ENST00000552075,;FAM19A2,5_prime_UTR_variant,,ENST00000550003,;FAM19A2,intron_variant,,ENST00000551449,;FAM19A2,missense_variant,p.Ile58Val,ENST00000549379,;	1757	135	119	SUCCESS
FGD6	55785	.	GRCh37	12	95603889	95603889	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	104	0	ENST00000343958.4:c.1171A>C	p.Asn391His	p.N391H	ENST00000343958	NM_018351.3	391	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS31878.1	1171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTTGGATT	NONE	.	.	hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673	.	.	ENSP00000344446	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.07)	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,missense_variant,p.Asn391His,ENST00000549499,;FGD6,missense_variant,p.Asn391His,ENST00000546711,;FGD6,missense_variant,p.Asn391His,ENST00000343958,;FGD6,upstream_gene_variant,,ENST00000550368,;FGD6,intron_variant,,ENST00000451107,;	1395	104	85	SUCCESS
AKAP11	11215	.	GRCh37	13	42876851	42876851	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	25	182	0	ENST00000025301.2:c.3969A>T	p.Pro1323=	p.P1323=	ENST00000025301	NM_016248.3	1323	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9383.1	3969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCACCAAG	NONE	.	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3	.	.	ENSP00000025301	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000025301	Transcript	.	.	ENSG00000023516	369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKA11_HUMAN	AKAP11	HGNC	Q6AI61_HUMAN	.	UPI0000125747	SNV	AKAP11,synonymous_variant,p.%3D,ENST00000025301,;	4144	182	129	SUCCESS
POU4F1	5457	.	GRCh37	13	79175699	79175699	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	48	0	ENST00000377208.5:c.1111G>A	p.Glu371Lys	p.E371K	ENST00000377208	NM_006237.3	371	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31996.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCGAGGG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00028	.	.	ENSP00000366413	.	2/2	.	.	.	.	.	.	.	.	COSM948738	2/2	PASS	ENST00000377208	Transcript	.	.	ENSG00000152192	9218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious(0)	1	PO4F1_HUMAN	POU4F1	HGNC	.	.	UPI000013DCAA	SNV	POU4F1,missense_variant,p.Glu371Lys,ENST00000377208,;RNF219-AS1,intron_variant,,ENST00000430549,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000607860,;RP11-52L5.6,downstream_gene_variant,,ENST00000607269,;	1323	48	38	SUCCESS
TRMT61A	115708	.	GRCh37	14	103996384	103996384	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	58	0	ENST00000389749.4:c.69T>A	p.Gly23=	p.G23=	ENST00000389749	NM_152307.2	23	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41994.1	69	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTGCAAT	NONE	.	.	PROSITE_profiles:PS51620,hmmpanther:PTHR12133,hmmpanther:PTHR12133:SF2,Gene3D:3.10.330.20,PIRSF_domain:PIRSF017269,Superfamily_domains:SSF53335	.	.	ENSP00000374399	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000389749	Transcript	.	.	ENSG00000166166	23790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRM61_HUMAN	TRMT61A	HGNC	.	.	UPI0000072BC7	SNV	TRMT61A,synonymous_variant,p.%3D,ENST00000389749,;TRMT61A,intron_variant,,ENST00000299202,;RP11-600F24.7,upstream_gene_variant,,ENST00000568177,;	176	58	40	SUCCESS
FANCM	57697	.	GRCh37	14	45650881	45650882	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	33	135	0	ENST00000267430.5:c.4364dup	p.Arg1456AlafsTer13	p.R1456Afs*13	ENST00000267430	NM_020937.2	1453	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS32070.1	4359-4360	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGTCAAAAA	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	insertion	FANCM,frameshift_variant,p.Arg389AlafsTer13,ENST00000554809,;FANCM,frameshift_variant,p.Arg1430AlafsTer13,ENST00000542564,;FANCM,frameshift_variant,p.Arg972AlafsTer13,ENST00000556250,;FANCM,frameshift_variant,p.Arg1456AlafsTer13,ENST00000267430,;FANCM,non_coding_transcript_exon_variant,,ENST00000555013,;	4444-4445	135	145	SUCCESS
RTN1	6252	.	GRCh37	14	60194074	60194095	+	frameshift_variant	Frame_Shift_Del	DEL	GAGGGCGGCGGGCCGCCCACGT	GAGGGCGGCGGGCCGCCCACGT	-	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	GAGGGCGGCGGGCCGCCCACGT	GAGGGCGGCGGGCCGCCCACGT	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	38	0	ENST00000267484.5:c.1307_1328del	p.His436ArgfsTer12	p.H436Rfs*12	ENST00000267484	NM_021136.2	436	cACGTGGGCGGCCCGCCGCCCTCg/cg	0	.	.	.	.	.	-	HVGGPPPS/X	protein_coding	YES	CCDS9740.1	1307-1328	VARSCANI*|PINDEL	.	GCGGGCGAGGGCGGCGGGCCGCCCACGTGGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994	.	.	ENSP00000267484	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	deletion	RTN1,frameshift_variant,p.His436ArgfsTer12,ENST00000267484,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	1643-1664	38	36	SUCCESS
SLC8A3	6547	.	GRCh37	14	70634966	70634966	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	87	0	ENST00000381269.2:c.174C>T	p.Val58=	p.V58=	ENST00000381269	NM_183002.1	58	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS35498.1	174	MUTECT|MUSE	.	AGGATGACACC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845	.	.	ENSP00000370669	.	2/8	.	.	.	.	.	.	.	.	COSM3497495,COSM3497496	2/8	PASS	ENST00000381269	Transcript	.	.	ENSG00000100678	11070	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	NAC3_HUMAN	SLC8A3	HGNC	Q86TQ9_HUMAN	.	UPI0000073C9A	SNV	SLC8A3,synonymous_variant,p.%3D,ENST00000534137,;SLC8A3,synonymous_variant,p.%3D,ENST00000381269,;SLC8A3,synonymous_variant,p.%3D,ENST00000357887,;SLC8A3,synonymous_variant,p.%3D,ENST00000528359,;SLC8A3,synonymous_variant,p.%3D,ENST00000356921,;SLC8A3,synonymous_variant,p.%3D,ENST00000494208,;	928	87	70	SUCCESS
TRPM1	4308	.	GRCh37	15	31325061	31325061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	161	0	ENST00000397795.2:c.2717C>T	p.Ala906Val	p.A906V	ENST00000397795	NM_002420.5	906	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS58347.1	2834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGCCACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13,Pfam_domain:PF00520	.	.	ENSP00000437849	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,missense_variant,p.Ala906Val,ENST00000558445,;TRPM1,missense_variant,p.Ala945Val,ENST00000542188,;TRPM1,missense_variant,p.Ala830Val,ENST00000558768,;TRPM1,missense_variant,p.Ala928Val,ENST00000256552,;TRPM1,missense_variant,p.Ala906Val,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000558755,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,non_coding_transcript_exon_variant,,ENST00000557948,;TRPM1,upstream_gene_variant,,ENST00000558212,;	3148	161	116	SUCCESS
TGM5	9333	.	GRCh37	15	43552276	43552276	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	42	0	ENST00000220420.5:c.410T>A	p.Ile137Asn	p.I137N	ENST00000220420	NM_201631.3	137	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS32212.1	410	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGATGAAC	NONE	.	.	Superfamily_domains:SSF81296,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590	.	.	ENSP00000220420	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000220420	Transcript	1	.	ENSG00000104055	11781	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	TGM5_HUMAN	TGM5	HGNC	.	.	UPI0000136CCF	SNV	TGM5,missense_variant,p.Ile137Asn,ENST00000220420,;TGM5,intron_variant,,ENST00000349114,;	418	42	48	SUCCESS
CRAMP1L	0	.	GRCh37	16	1676129	1676129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	85	0	ENST00000293925.5:c.502A>T	p.Thr168Ser	p.T168S	ENST00000293925	NM_020825.3	168	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS10440.2	502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCACAGAG	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR21677,SMART_domains:SM00717	.	.	ENSP00000380559	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000397412	Transcript	.	.	ENSG00000007545	14122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.501)	.	tolerated(0.08)	.	CRML_HUMAN	CRAMP1L	HGNC	B2RNX8_HUMAN	.	UPI000066D946	SNV	CRAMP1L,missense_variant,p.Thr165Ser,ENST00000436138,;CRAMP1L,missense_variant,p.Thr168Ser,ENST00000293925,;CRAMP1L,missense_variant,p.Thr168Ser,ENST00000397412,;LA16c-395F10.1,non_coding_transcript_exon_variant,,ENST00000415176,;	601	85	85	SUCCESS
SMG1	23049	.	GRCh37	16	18852978	18852978	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	80	169	0	ENST00000446231.2:c.6605C>A	p.Ser2202Ter	p.S2202*	ENST00000446231		2202	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS45430.1	6605	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGATCTT	NONE	.	.	PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Gene3D:1.10.1070.11,Pfam_domain:PF00454,SMART_domains:SM00146,Superfamily_domains:SSF56112	.	.	ENSP00000402515	.	41/63	.	.	.	.	.	.	.	.	.	41/63	PASS	ENST00000446231	Transcript	.	.	ENSG00000157106	30045	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMG1_HUMAN	SMG1	HGNC	H3BPS6_HUMAN	.	UPI00004F8E22	SNV	SMG1,stop_gained,p.Ser2202Ter,ENST00000389467,;SMG1,stop_gained,p.Ser2092Ter,ENST00000565324,;SMG1,stop_gained,p.Ser2202Ter,ENST00000446231,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;	7018	169	170	SUCCESS
SLC12A4	6560	.	GRCh37	16	67995581	67995581	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	76	0	ENST00000316341.3:c.239C>G	p.Ser80Trp	p.S80W	ENST00000316341	NM_001145961.1	80	tCg/tGg	0	.	.	.	.	.	C	S/W	protein_coding	YES	CCDS54032.1	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACGATACC	NONE	.	.	TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46	.	.	ENSP00000395983	.	2/23	.	.	.	.	.	.	.	.	COSM435557	2/23	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,missense_variant,p.Ser74Trp,ENST00000537830,;SLC12A4,missense_variant,p.Ser49Trp,ENST00000541864,;SLC12A4,missense_variant,p.Ser80Trp,ENST00000576616,;SLC12A4,missense_variant,p.Ser80Trp,ENST00000338335,;SLC12A4,missense_variant,p.Ser32Trp,ENST00000572037,;SLC12A4,missense_variant,p.Ser80Trp,ENST00000316341,;SLC12A4,missense_variant,p.Ser82Trp,ENST00000422611,;SLC12A4,5_prime_UTR_variant,,ENST00000571299,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000576462,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,intron_variant,,ENST00000576377,;	285	76	48	SUCCESS
RNF112	7732	.	GRCh37	17	19316448	19316448	+	synonymous_variant	Silent	SNP	G	G	A	rs371894521	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	51	0	ENST00000461366.1:c.579G>A	p.Leu193=	p.L193=	ENST00000461366	NM_007148.4	193	ttG/ttA	0	A:0.0008	A:0	.	A:0.0014	.	A	L	protein_coding	YES	CCDS58529.1	579	MUTECT|MUSE	.	GGCTTGCCGGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000454919	A:0	4/14	.	.	.	.	.	.	.	.	rs371894521	4/14	PASS	ENST00000461366	Transcript	.	A:0.0002	ENSG00000128482	12968	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	RN112_HUMAN	RNF112	HGNC	J3QRB8_HUMAN	.	UPI00001B0607	SNV	RNF112,synonymous_variant,p.%3D,ENST00000461366,;RNF112,downstream_gene_variant,,ENST00000575165,;CTB-187M2.2,upstream_gene_variant,,ENST00000579897,;RNF112,intron_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574149,;RNF112,upstream_gene_variant,,ENST00000574782,;	794	51	69	SUCCESS
SRCIN1	80725	.	GRCh37	17	36719591	36719591	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	58	0	ENST00000264659.7:c.708T>G	p.Ala236=	p.A236=	ENST00000264659	NM_025248.2	236	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS45660.1	708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGAGCCTC	NONE	.	.	hmmpanther:PTHR22741:SF5,hmmpanther:PTHR22741	.	.	ENSP00000264659	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000264659	Transcript	.	.	ENSG00000017373	29506	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRCN1_HUMAN	SRCIN1	HGNC	.	.	UPI0000E27F82	SNV	SRCIN1,synonymous_variant,p.%3D,ENST00000264659,;SRCIN1,synonymous_variant,p.%3D,ENST00000584266,;SRCIN1,synonymous_variant,p.%3D,ENST00000542707,;SRCIN1,synonymous_variant,p.%3D,ENST00000578925,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000398579,;SRCIN1,upstream_gene_variant,,ENST00000578160,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000577193,;	933	58	71	SUCCESS
DHX8	1659	.	GRCh37	17	41590858	41590858	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	137	0	ENST00000262415.3:c.2631G>T	p.Thr877=	p.T877=	ENST00000262415	NM_004941.1	877	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11464.1	2631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACGCCTAT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934:SF85,hmmpanther:PTHR18934,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000262415	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000262415	Transcript	.	.	ENSG00000067596	2749	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX8_HUMAN	DHX8	HGNC	.	.	UPI00001290D9	SNV	DHX8,synonymous_variant,p.%3D,ENST00000540306,;DHX8,synonymous_variant,p.%3D,ENST00000262415,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;	2703	137	71	SUCCESS
GPATCH8	23131	.	GRCh37	17	42552196	42552196	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	101	0	ENST00000591680.1:c.120+1G>T		p.X40_splice	ENST00000591680	NM_001002909.2	40		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32666.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACCGATT	NONE	.	.	.	.	.	ENSP00000467556	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000591680	Transcript	.	.	ENSG00000186566	29066	.	.	HIGH	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPTC8_HUMAN	GPATCH8	HGNC	.	.	UPI0000237985	SNV	GPATCH8,splice_donor_variant,,ENST00000592154,;GPATCH8,splice_donor_variant,,ENST00000591680,;GPATCH8,splice_donor_variant,,ENST00000434000,;GPATCH8,missense_variant,p.Val41Leu,ENST00000588554,;GPATCH8,intron_variant,,ENST00000585614,;GPATCH8,splice_donor_variant,,ENST00000590041,;GPATCH8,splice_donor_variant,,ENST00000586037,;GPATCH8,splice_donor_variant,,ENST00000587228,;GPATCH8,splice_donor_variant,,ENST00000592746,;	.	101	98	SUCCESS
MRC2	9902	.	GRCh37	17	60759063	60759063	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	21	0	ENST00000303375.5:c.2703-135C>G		p.*901*	ENST00000303375	NM_006039.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11634.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCCCTCA	NONE	.	.	.	.	.	ENSP00000307513	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODIFIER	18/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,5_prime_UTR_variant,,ENST00000579432,;MRC2,5_prime_UTR_variant,,ENST00000446119,;MRC2,intron_variant,,ENST00000303375,;RNU6-446P,upstream_gene_variant,,ENST00000362827,;MRC2,intron_variant,,ENST00000583597,;MRC2,downstream_gene_variant,,ENST00000584682,;	.	21	25	SUCCESS
SMIM5	643008	.	GRCh37	17	73636294	73636294	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374017473	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	55	1	ENST00000375215.3:c.13G>A	p.Asp5Asn	p.D5N	ENST00000375215	NM_001162995.2	5	Gac/Aac	0	.	A:0	.	A:0	.	A	D/N	protein_coding	YES	CCDS54165.1	13	MUTECT|MUSE	.	CCACCGACTTC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000477017	A:0	1/2	.	.	.	.	.	.	.	.	rs374017473	1/2	common_in_exac	ENST00000537494	Transcript	.	A:0.0044	ENSG00000204323	40030	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	A:0.0225	tolerated(0.49)	.	.	SMIM5	HGNC	.	.	UPI0000052778	SNV	SMIM5,missense_variant,p.Asp5Asn,ENST00000375215,;SMIM5,missense_variant,p.Asp5Asn,ENST00000537494,;RECQL5,intron_variant,,ENST00000578201,;RECQL5,intron_variant,,ENST00000423245,;RECQL5,intron_variant,,ENST00000317905,;RECQL5,upstream_gene_variant,,ENST00000580707,;RECQL5,upstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000579739,;RECQL5,intron_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000581827,;	3620	56	48	SUCCESS
NPB	256933	.	GRCh37	17	79860624	79860624	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	48	147	0	ENST00000333383.7:c.378A>G	p.Ter126TrpextTer41	p.*126Wext*41	ENST00000333383	NM_148896.3	126	tgA/tgG	0	.	.	.	.	.	G	*/W	protein_coding	YES	CCDS11790.1	378	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGAGCCCG	NONE	.	.	.	.	.	ENSP00000332766	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000333383	Transcript	.	.	ENSG00000183979	30099	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPB_HUMAN	NPB	HGNC	.	.	UPI000007209F	SNV	NPB,stop_lost,p.Ter126TrpextTer41,ENST00000333383,;NPB,stop_lost,p.Ter157TrpextTer41,ENST00000573081,;PCYT2,3_prime_UTR_variant,,ENST00000538936,;PCYT2,downstream_gene_variant,,ENST00000572995,;ANAPC11,downstream_gene_variant,,ENST00000357385,;PCYT2,downstream_gene_variant,,ENST00000576343,;ANAPC11,downstream_gene_variant,,ENST00000578544,;ANAPC11,downstream_gene_variant,,ENST00000575195,;ANAPC11,downstream_gene_variant,,ENST00000574924,;PCYT2,downstream_gene_variant,,ENST00000570391,;ANAPC11,downstream_gene_variant,,ENST00000344877,;ANAPC11,downstream_gene_variant,,ENST00000579978,;ANAPC11,downstream_gene_variant,,ENST00000577425,;PCYT2,downstream_gene_variant,,ENST00000331285,;PCYT2,downstream_gene_variant,,ENST00000571105,;ANAPC11,downstream_gene_variant,,ENST00000585259,;ANAPC11,downstream_gene_variant,,ENST00000584197,;ANAPC11,downstream_gene_variant,,ENST00000583839,;PCYT2,downstream_gene_variant,,ENST00000538721,;ANAPC11,downstream_gene_variant,,ENST00000577747,;PCYT2,downstream_gene_variant,,ENST00000573636,;ANAPC11,downstream_gene_variant,,ENST00000571570,;ANAPC11,downstream_gene_variant,,ENST00000571874,;PCYT2,downstream_gene_variant,,ENST00000570388,;ANAPC11,downstream_gene_variant,,ENST00000579133,;ANAPC11,downstream_gene_variant,,ENST00000572851,;ANAPC11,downstream_gene_variant,,ENST00000571024,;ANAPC11,downstream_gene_variant,,ENST00000578550,;ANAPC11,downstream_gene_variant,,ENST00000392376,;ANAPC11,downstream_gene_variant,,ENST00000572639,;PCYT2,downstream_gene_variant,,ENST00000571581,;PCYT2,downstream_gene_variant,,ENST00000574155,;ANAPC11,downstream_gene_variant,,ENST00000573956,;PCYT2,downstream_gene_variant,,ENST00000573401,;PCYT2,downstream_gene_variant,,ENST00000571944,;PCYT2,downstream_gene_variant,,ENST00000572924,;PCYT2,downstream_gene_variant,,ENST00000574343,;	547	147	164	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14851875	14851875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	123	0	ENST00000358984.4:c.3575G>A	p.Ser1192Asn	p.S1192N	ENST00000358984	NM_001145029.1	1192	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS54182.1	3575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGTGTCA	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915	.	.	ENSP00000351875	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.42)	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,missense_variant,p.Ser1192Asn,ENST00000358984,;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	3755	123	100	SUCCESS
ANGPTL6	83854	.	GRCh37	19	10206774	10206774	+	synonymous_variant	Silent	SNP	G	G	T	rs770895499	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	21	0	ENST00000253109.4:c.466C>A	p.Arg156=	p.R156=	ENST00000253109	NM_031917.2	156	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12224.1	466	SOMATICSNIPER|MUSE	.	GAACCGGGCGG	NONE	byFrequency	.	hmmpanther:PTHR19143:SF169,hmmpanther:PTHR19143	.	.	ENSP00000253109	.	2/6	.	.	.	.	.	.	.	.	rs770895499	2/6	PASS	ENST00000253109	Transcript	.	.	ENSG00000130812	23140	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANGL6_HUMAN	ANGPTL6	HGNC	.	.	UPI000004BA54	SNV	ANGPTL6,synonymous_variant,p.%3D,ENST00000253109,;ANGPTL6,synonymous_variant,p.%3D,ENST00000589181,;ANGPTL6,synonymous_variant,p.%3D,ENST00000592641,;C19orf66,downstream_gene_variant,,ENST00000593131,;C19orf66,downstream_gene_variant,,ENST00000591813,;C19orf66,downstream_gene_variant,,ENST00000397881,;C19orf66,downstream_gene_variant,,ENST00000253110,;ANGPTL6,non_coding_transcript_exon_variant,,ENST00000586910,;C19orf66,downstream_gene_variant,,ENST00000585919,;C19orf66,downstream_gene_variant,,ENST00000586730,;C19orf66,downstream_gene_variant,,ENST00000587710,;	705	21	17	SUCCESS
AP1M1	8907	.	GRCh37	19	16319967	16319967	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	133	0	ENST00000291439.3:c.525C>A	p.Val175=	p.V175=	ENST00000291439	NM_032493.3	175	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46008.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTCATCGA	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF22,PROSITE_patterns:PS00990,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852,Prints_domain:PR00314	.	.	ENSP00000388996	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000444449	Transcript	.	.	ENSG00000072958	13667	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1M1_HUMAN	AP1M1	HGNC	Q59EK3_HUMAN,K7ER75_HUMAN,K7EQ90_HUMAN,K7EPJ8_HUMAN,K7ENA7_HUMAN	.	UPI000051DDEE	SNV	AP1M1,synonymous_variant,p.%3D,ENST00000291439,;AP1M1,synonymous_variant,p.%3D,ENST00000444449,;AP1M1,synonymous_variant,p.%3D,ENST00000429941,;AP1M1,synonymous_variant,p.%3D,ENST00000590756,;AP1M1,synonymous_variant,p.%3D,ENST00000541844,;AP1M1,downstream_gene_variant,,ENST00000591775,;AP1M1,downstream_gene_variant,,ENST00000590945,;AP1M1,downstream_gene_variant,,ENST00000589822,;AP1M1,downstream_gene_variant,,ENST00000590263,;AP1M1,non_coding_transcript_exon_variant,,ENST00000586461,;AP1M1,non_coding_transcript_exon_variant,,ENST00000591966,;AP1M1,non_coding_transcript_exon_variant,,ENST00000589782,;AP1M1,downstream_gene_variant,,ENST00000586957,;AP1M1,downstream_gene_variant,,ENST00000589991,;	618	133	113	SUCCESS
ANKLE1	126549	.	GRCh37	19	17397348	17397348	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	77	0	ENST00000394458.3:c.1835A>T	p.Gln612Leu	p.Q612L	ENST00000394458	NM_001278444.1	612	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	.	1835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCAGGCCC	NONE	.	.	hmmpanther:PTHR13428:SF5,hmmpanther:PTHR13428	.	.	ENSP00000377971	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000394458	Transcript	.	.	ENSG00000160117	26812	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	deleterious(0)	.	ANKL1_HUMAN	ANKLE1	HGNC	.	.	UPI000165D67E	SNV	ANKLE1,missense_variant,p.Gln575Leu,ENST00000594072,;ANKLE1,missense_variant,p.Gln608Leu,ENST00000404085,;ANKLE1,missense_variant,p.Arg540Trp,ENST00000598347,;ANKLE1,missense_variant,p.Gln612Leu,ENST00000394458,;ANKLE1,downstream_gene_variant,,ENST00000433424,;USHBP1,upstream_gene_variant,,ENST00000598309,;ANKLE1,non_coding_transcript_exon_variant,,ENST00000596626,;ANKLE1,downstream_gene_variant,,ENST00000596099,;ANKLE1,downstream_gene_variant,,ENST00000596834,;ANKLE1,downstream_gene_variant,,ENST00000601401,;ANKLE1,downstream_gene_variant,,ENST00000404261,;CTD-2278I10.6,downstream_gene_variant,,ENST00000596542,;	2111	77	82	SUCCESS
LINGO3	645191	.	GRCh37	19	2290105	2290105	+	synonymous_variant	Silent	SNP	C	C	G	rs758524776	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	27	158	0	ENST00000585527.1:c.1671G>C	p.Gly557=	p.G557=	ENST00000585527		557	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS45905.1	1671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCCCGCG	NONE	.	.	hmmpanther:PTHR24371:SF61,hmmpanther:PTHR24371	.	.	ENSP00000467753	.	1/1	.	.	.	.	.	.	.	.	rs758524776	1/1	PASS	ENST00000585527	Transcript	.	.	ENSG00000220008	21206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIGO3_HUMAN	LINGO3	HGNC	.	.	UPI00000497E2	SNV	LINGO3,synonymous_variant,p.%3D,ENST00000404279,;LINGO3,synonymous_variant,p.%3D,ENST00000585527,;	1919	158	115	SUCCESS
CEP89	84902	.	GRCh37	19	33370231	33370231	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758657889	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	69	0	ENST00000305768.5:c.2189G>T	p.Arg730Leu	p.R730L	ENST00000305768	NM_032816.3	730	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS32987.1	2189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCGGTTT	NONE	byFrequency	.	.	.	.	ENSP00000306105	.	19/19	.	.	.	.	.	.	.	.	rs758657889	19/19	PASS	ENST00000305768	Transcript	1	.	ENSG00000121289	25907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.538)	.	deleterious(0.02)	.	CEP89_HUMAN	CEP89	HGNC	.	.	UPI000020202C	SNV	CEP89,missense_variant,p.Arg730Leu,ENST00000305768,;CTD-2085J24.4,upstream_gene_variant,,ENST00000586628,;CEP89,3_prime_UTR_variant,,ENST00000591698,;CEP89,3_prime_UTR_variant,,ENST00000586984,;	2278	69	62	SUCCESS
HIF3A	64344	.	GRCh37	19	46815884	46815884	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	114	0	ENST00000377670.4:c.999T>C	p.Ser333=	p.S333=	ENST00000377670	NM_152795.3	333	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS12681.2	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGTATCGT	NONE	.	.	hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,Gene3D:3.30.450.20,Pfam_domain:PF14598,SMART_domains:SM00086,Superfamily_domains:SSF55785	.	.	ENSP00000366898	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000377670	Transcript	.	.	ENSG00000124440	15825	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIF3A_HUMAN	HIF3A	HGNC	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN	.	UPI00002026E2	SNV	HIF3A,synonymous_variant,p.%3D,ENST00000472815,;HIF3A,synonymous_variant,p.%3D,ENST00000377670,;HIF3A,synonymous_variant,p.%3D,ENST00000300862,;HIF3A,synonymous_variant,p.%3D,ENST00000244303,;HIF3A,synonymous_variant,p.%3D,ENST00000420102,;HIF3A,synonymous_variant,p.%3D,ENST00000600383,;HIF3A,synonymous_variant,p.%3D,ENST00000339613,;HIF3A,downstream_gene_variant,,ENST00000533145,;HIF3A,downstream_gene_variant,,ENST00000525854,;HIF3A,3_prime_UTR_variant,,ENST00000528563,;HIF3A,3_prime_UTR_variant,,ENST00000531043,;HIF3A,non_coding_transcript_exon_variant,,ENST00000475432,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,downstream_gene_variant,,ENST00000533789,;HIF3A,downstream_gene_variant,,ENST00000529205,;HIF3A,downstream_gene_variant,,ENST00000526506,;HIF3A,downstream_gene_variant,,ENST00000600879,;	1030	114	90	SUCCESS
TBC1D17	79735	.	GRCh37	19	50380869	50380869	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs541245582	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	22	0	ENST00000221543.5:c.-112G>A		p.*38*	ENST00000221543	NM_024682.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS59410.1	.	MUTECT|MUSE	.	AGAACGGGTCG	NONE	byFrequency|by1000G	.	.	T:0.002	.	ENSP00000375711	T:0	1/5	.	.	.	.	.	.	.	.	rs541245582	1/5	PASS	ENST00000391835	Transcript	.	T:0.0004	ENSG00000204673	28426	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	AKTS1_HUMAN	AKT1S1	HGNC	M0R2V8_HUMAN,H9KV91_HUMAN	.	UPI00004A2415	SNV	AKT1S1,5_prime_UTR_variant,,ENST00000391835,;TBC1D17,5_prime_UTR_variant,,ENST00000221543,;AKT1S1,intron_variant,,ENST00000391830,;AKT1S1,upstream_gene_variant,,ENST00000391832,;AKT1S1,upstream_gene_variant,,ENST00000344175,;TBC1D17,upstream_gene_variant,,ENST00000599049,;TBC1D17,upstream_gene_variant,,ENST00000535102,;AKT1S1,upstream_gene_variant,,ENST00000391833,;AKT1S1,upstream_gene_variant,,ENST00000391831,;AKT1S1,upstream_gene_variant,,ENST00000599525,;AKT1S1,upstream_gene_variant,,ENST00000391834,;AKT1S1,intron_variant,,ENST00000482622,;TBC1D17,upstream_gene_variant,,ENST00000598789,;TBC1D17,upstream_gene_variant,,ENST00000594984,;TBC1D17,upstream_gene_variant,,ENST00000596243,;TBC1D17,upstream_gene_variant,,ENST00000594996,;	417	22	17	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7528840	7528840	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	96	0	ENST00000359920.6:c.2208G>A		p.X736_splice	ENST00000359920	NM_001130955.1	736	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS45946.1	2208	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAGAGTAA	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF9	.	.	ENSP00000352995	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,synonymous_variant,p.%3D,ENST00000359920,;ARHGEF18,synonymous_variant,p.%3D,ENST00000594665,;ARHGEF18,synonymous_variant,p.%3D,ENST00000319670,;CTD-2207O23.3,synonymous_variant,p.%3D,ENST00000593531,;	2461	96	77	SUCCESS
MUC16	94025	.	GRCh37	19	9088914	9088914	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1359162780	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	33	152	0	ENST00000397910.4:c.2901G>A	p.Trp967Ter	p.W967*	ENST00000397910	NM_024690.2	967	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS54212.1	2901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCCAAGT	NONE	.	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	.	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Trp967Ter,ENST00000397910,;	3105	152	125	SUCCESS
FLG	2312	.	GRCh37	1	152277443	152277443	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	92	123	0	ENST00000368799.1:c.9919C>A	p.Gln3307Lys	p.Q3307K	ENST00000368799	NM_002016.1	3307	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS30860.1	9919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGGTGGC	NONE	.	.	Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gln3307Lys,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	9955	123	154	SUCCESS
FLG	2312	.	GRCh37	1	152287879	152287879	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	330	82	306	0	ENST00000368799.1:c.54T>A	p.Tyr18Ter	p.Y18*	ENST00000368799	NM_002016.1	18	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS30860.1	54	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAATATTG	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000357789	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,stop_gained,p.Tyr18Ter,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	90	306	413	SUCCESS
PYGO2	90780	.	GRCh37	1	154931467	154931467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	22	54	0	ENST00000368457.2:c.1009G>T	p.Val337Leu	p.V337L	ENST00000368457	NM_138300.3	337	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS1075.1	1009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCACCTCAC	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR23194:SF7,hmmpanther:PTHR23194,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000357442	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368457	Transcript	.	.	ENSG00000163348	30257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	.	deleterious(0)	.	PYGO2_HUMAN	PYGO2	HGNC	Q5T171_HUMAN,Q5T170_HUMAN	.	UPI00000015CD	SNV	PYGO2,missense_variant,p.Val300Leu,ENST00000368456,;PYGO2,missense_variant,p.Val337Leu,ENST00000368457,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000448116,;SHC1,downstream_gene_variant,,ENST00000368445,;PBXIP1,upstream_gene_variant,,ENST00000368460,;PBXIP1,upstream_gene_variant,,ENST00000539880,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000368453,;PBXIP1,upstream_gene_variant,,ENST00000368465,;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000368463,;SHC1,downstream_gene_variant,,ENST00000368450,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	1181	54	94	SUCCESS
TMEM51	55092	.	GRCh37	1	15541674	15541674	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	36	0	ENST00000376008.2:c.91T>A	p.Trp31Arg	p.W31R	ENST00000376008		31	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS154.1	91	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGTGGAAC	NONE	.	.	Pfam_domain:PF15345,hmmpanther:PTHR16015,Transmembrane_helices:TMhelix	.	.	ENSP00000394899	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000428417	Transcript	.	.	ENSG00000171729	25488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMM51_HUMAN	TMEM51	HGNC	B1AP03_HUMAN	.	UPI0000073712	SNV	TMEM51,missense_variant,p.Trp31Arg,ENST00000434578,;TMEM51,missense_variant,p.Trp31Arg,ENST00000400796,;TMEM51,missense_variant,p.Trp31Arg,ENST00000376014,;TMEM51,missense_variant,p.Trp31Arg,ENST00000376008,;TMEM51,missense_variant,p.Trp31Arg,ENST00000451326,;TMEM51,missense_variant,p.Trp31Arg,ENST00000428417,;	537	36	35	SUCCESS
INSRR	3645	.	GRCh37	1	156815580	156815580	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759296297	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	61	95	0	ENST00000368195.3:c.2005G>A	p.Asp669Asn	p.D669N	ENST00000368195	NM_014215.2	669	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS1160.1	2005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATCGTTGT	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265	.	.	ENSP00000357178	.	10/22	.	.	.	.	.	.	.	.	rs759296297	10/22	PASS	ENST00000368195	Transcript	.	.	ENSG00000027644	6093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.14)	.	INSRR_HUMAN	INSRR	HGNC	I6U4P1_HUMAN	.	UPI000012D8BD	SNV	INSRR,missense_variant,p.Asp669Asn,ENST00000368195,;NTRK1,intron_variant,,ENST00000392302,;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,;	2402	95	155	SUCCESS
FHAD1	114827	.	GRCh37	1	15707263	15707263	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	65	0	ENST00000358897.4:c.3706G>T	p.Ala1236Ser	p.A1236S	ENST00000358897	NM_052929.1	1236	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	.	.	1411	MUTECT|MUSE	.	ATGTGGCTGAG	NONE	.	.	hmmpanther:PTHR18853:SF3,hmmpanther:PTHR18853	.	.	ENSP00000318812	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000314668	Transcript	.	.	ENSG00000142621	29408	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated(0.39)	.	.	FHAD1	HGNC	Q5JYW6_HUMAN	.	UPI00003728D4	SNV	FHAD1,missense_variant,p.Ala471Ser,ENST00000314668,;FHAD1,missense_variant,p.Ala489Ser,ENST00000314740,;FHAD1,missense_variant,p.Ala1200Ser,ENST00000417793,;FHAD1,missense_variant,p.Ala1236Ser,ENST00000358897,;FHAD1,missense_variant,p.Ala1236Ser,ENST00000375998,;FHAD1,missense_variant,p.Ala555Ser,ENST00000444385,;FHAD1,missense_variant,p.Ala1236Ser,ENST00000375999,;FHAD1,missense_variant,p.Ala507Ser,ENST00000529606,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000477846,;FHAD1,upstream_gene_variant,,ENST00000495195,;FHAD1,upstream_gene_variant,,ENST00000472086,;FHAD1,missense_variant,p.Ala253Ser,ENST00000481324,;	1411	65	42	SUCCESS
TRAF3IP3	80342	.	GRCh37	1	209953855	209953855	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs147808288	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	22	92	0	ENST00000367024.1:c.1353C>G	p.Asn451Lys	p.N451K	ENST00000367024		451	aaC/aaG	0	G:0	T:0	.	T:0	.	G	N/K	protein_coding	YES	CCDS1490.2	1353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAACGAAGT	NONE	byCluster|by1000G	.	hmmpanther:PTHR18889:SF10,hmmpanther:PTHR18889,Superfamily_domains:SSF57997	T:0.001	G:0.0001	ENSP00000355991	T:0	15/17	.	.	.	.	.	.	.	.	rs147808288	15/17	PASS	ENST00000367024	Transcript	.	T:0.0002	ENSG00000009790	30766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	T:0	tolerated(0.33)	.	T3JAM_HUMAN	TRAF3IP3	HGNC	C9JXB3_HUMAN,C9J0C0_HUMAN	.	UPI00005190E1	SNV	TRAF3IP3,missense_variant,p.Asn451Lys,ENST00000367024,;TRAF3IP3,missense_variant,p.Asn451Lys,ENST00000367025,;TRAF3IP3,missense_variant,p.Asn431Lys,ENST00000010338,;TRAF3IP3,missense_variant,p.Asn431Lys,ENST00000367026,;TRAF3IP3,intron_variant,,ENST00000477431,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000487271,;C1orf74,downstream_gene_variant,,ENST00000294811,;TRAF3IP3,intron_variant,,ENST00000480569,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,upstream_gene_variant,,ENST00000467830,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000460314,;TRAF3IP3,intron_variant,,ENST00000471368,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000474496,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;	1869	92	110	SUCCESS
GPATCH2	55105	.	GRCh37	1	217783370	217783370	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	32	0	ENST00000366935.3:c.1098+293G>C		p.*366*	ENST00000366935	NM_018040.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1518.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCCATCT	NONE	.	.	.	.	.	ENSP00000355902	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366935	Transcript	.	.	ENSG00000092978	25499	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPTC2_HUMAN	GPATCH2	HGNC	.	.	UPI000004A012	SNV	GPATCH2,3_prime_UTR_variant,,ENST00000366934,;GPATCH2,intron_variant,,ENST00000366935,;GPATCH2,intron_variant,,ENST00000485274,;GPATCH2,intron_variant,,ENST00000470014,;	.	32	41	SUCCESS
TTC13	79573	.	GRCh37	1	231059660	231059660	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	22	72	0	ENST00000366661.4:c.1741C>G	p.Pro581Ala	p.P581A	ENST00000366661	NM_024525.4	581	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS1588.1	1741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGGCTGGT	NONE	.	.	hmmpanther:PTHR23083:SF363,hmmpanther:PTHR23083	.	.	ENSP00000355621	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.638)	.	tolerated(0.07)	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	SNV	TTC13,missense_variant,p.Pro581Ala,ENST00000366661,;TTC13,missense_variant,p.Pro528Ala,ENST00000366662,;TTC13,missense_variant,p.Pro15Ala,ENST00000486879,;TTC13,missense_variant,p.Pro528Ala,ENST00000414259,;TTC13,upstream_gene_variant,,ENST00000471302,;	1749	73	112	SUCCESS
MAP10	54627	.	GRCh37	1	232943321	232943321	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	15	100	0	ENST00000418460.1:c.2552A>G	p.Tyr851Cys	p.Y851C	ENST00000418460	NM_019090.2	851	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS44334.1	2552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTATTCTG	NONE	.	.	hmmpanther:PTHR21831,hmmpanther:PTHR21831:SF1,Pfam_domain:PF14925	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	deleterious(0.03)	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,missense_variant,p.Tyr851Cys,ENST00000418460,;	2679	100	104	SUCCESS
TRIM58	25893	.	GRCh37	1	248020828	248020828	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749287255	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	29	0	ENST00000366481.3:c.280C>T	p.Arg94Trp	p.R94W	ENST00000366481	NM_015431.3	94	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1636.1	280	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGCGGCGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000355437	.	1/6	.	.	.	.	.	.	.	.	rs749287255	1/6	PASS	ENST00000366481	Transcript	.	.	ENSG00000162722	24150	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.052)	.	deleterious(0.02)	.	TRI58_HUMAN	TRIM58	HGNC	.	.	UPI000020590E	SNV	TRIM58,missense_variant,p.Arg94Trp,ENST00000366481,;	328	29	23	SUCCESS
KRTAP19-1	337882	.	GRCh37	21	31852477	31852477	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	100	0	ENST00000390689.2:c.160G>T	p.Gly54Ter	p.G54*	ENST00000390689	NM_181607.1	54	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS13594.1	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCCGTAGC	BUFFER|p.S52G|c.154A>G|3	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF11759,Pfam_domain:PF11759	.	.	ENSP00000375108	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390689	Transcript	.	.	ENSG00000184351	18936	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR191_HUMAN	KRTAP19-1	HGNC	.	.	UPI00001A9E54	SNV	KRTAP19-1,stop_gained,p.Gly54Ter,ENST00000390689,;	187	100	105	SUCCESS
HLCS	3141	.	GRCh37	21	38128887	38128887	+	synonymous_variant	Silent	SNP	C	C	A	rs758851021	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	39	149	0	ENST00000336648.4:c.1965G>T	p.Gly655=	p.G655=	ENST00000336648	NM_000411.6	655	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13647.1	1965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGCCCTTT	NONE	byFrequency	.	hmmpanther:PTHR12835,hmmpanther:PTHR12835:SF6,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00121,Superfamily_domains:SSF55681	.	.	ENSP00000382071	.	11/12	.	.	.	.	.	.	.	.	rs758851021	11/12	PASS	ENST00000399120	Transcript	.	.	ENSG00000159267	4976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPL1_HUMAN	HLCS	HGNC	C9JD75_HUMAN,C9JCQ9_HUMAN	.	UPI0000126A8C	SNV	HLCS,synonymous_variant,p.%3D,ENST00000399120,;HLCS,synonymous_variant,p.%3D,ENST00000336648,;	3196	149	147	SUCCESS
L3MBTL2	83746	.	GRCh37	22	41616796	41616796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	13	53	0	ENST00000216237.5:c.777G>T	p.Trp259Cys	p.W259C	ENST00000216237	NM_031488.4	259	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS14011.1	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGTGCAA	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF64,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000216237	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000216237	Transcript	.	.	ENSG00000100395	18594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LMBL2_HUMAN	L3MBTL2	HGNC	.	.	UPI000012E77E	SNV	L3MBTL2,missense_variant,p.Trp259Cys,ENST00000216237,;L3MBTL2,missense_variant,p.Trp207Cys,ENST00000449635,;RP4-756G23.5,upstream_gene_variant,,ENST00000441316,;RP4-756G23.5,upstream_gene_variant,,ENST00000451176,;L3MBTL2,downstream_gene_variant,,ENST00000489136,;L3MBTL2,missense_variant,p.Gly212Val,ENST00000450939,;L3MBTL2,missense_variant,p.Trp259Cys,ENST00000452106,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000481902,;	935	53	43	SUCCESS
TPO	7173	.	GRCh37	2	1488563	1488563	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	122	1	ENST00000329066.4:c.1534C>T	p.Pro512Ser	p.P512S	ENST00000329066	NM_001206744.1	512	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS1643.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCCCGAC	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000318820	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	tolerated(0.06)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Pro512Ser,ENST00000329066,;TPO,missense_variant,p.Pro512Ser,ENST00000337415,;TPO,missense_variant,p.Pro339Ser,ENST00000382198,;TPO,missense_variant,p.Pro512Ser,ENST00000382201,;TPO,missense_variant,p.Pro44Ser,ENST00000446278,;TPO,missense_variant,p.Pro339Ser,ENST00000349624,;TPO,missense_variant,p.Pro512Ser,ENST00000346956,;TPO,missense_variant,p.Pro43Ser,ENST00000469607,;TPO,missense_variant,p.Pro441Ser,ENST00000422464,;TPO,missense_variant,p.Pro512Ser,ENST00000345913,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;	1625	123	74	SUCCESS
MLTK	0	.	GRCh37	2	174086306	174086306	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	40	0	ENST00000375213.3:c.987+4328A>T		p.*329*	ENST00000375213	NM_016653.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAAGTAAC	NONE	.	.	.	.	.	ENSP00000364361	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375213	Transcript	.	.	ENSG00000091436	.	.	.	MODIFIER	11/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLTK_HUMAN	MLTK	Uniprot_gn	C9J3F7_HUMAN	.	UPI0000073F69	SNV	MLTK,3_prime_UTR_variant,,ENST00000431503,;MLTK,3_prime_UTR_variant,,ENST00000338983,;MLTK,3_prime_UTR_variant,,ENST00000539448,;MLTK,intron_variant,,ENST00000375213,;MLTK,intron_variant,,ENST00000409176,;MLK7-AS1,intron_variant,,ENST00000422703,;MLK7-AS1,intron_variant,,ENST00000423106,;	.	40	35	SUCCESS
TTN	7273	.	GRCh37	2	179593438	179593438	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	50	184	0	ENST00000591111.1:c.18264A>G	p.Glu6088=	p.E6088=	ENST00000591111		6088	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS59435.1	19215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACATTCCAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	66/363	.	.	.	.	.	.	.	.	.	66/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	19440	184	169	SUCCESS
TRAK2	66008	.	GRCh37	2	202250957	202250957	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	30	142	0	ENST00000332624.3:c.1947A>G	p.Ala649=	p.A649=	ENST00000332624	NM_015049.2	649	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS2347.1	1947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTGCTGA	NONE	.	.	hmmpanther:PTHR15751:SF13,hmmpanther:PTHR15751	.	.	ENSP00000328875	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000332624	Transcript	.	.	ENSG00000115993	13206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAK2_HUMAN	TRAK2	HGNC	Q53TT7_HUMAN,Q53RS6_HUMAN	.	UPI0000125022	SNV	TRAK2,synonymous_variant,p.%3D,ENST00000332624,;STRADB,upstream_gene_variant,,ENST00000458269,;	2376	142	110	SUCCESS
TRIP12	9320	.	GRCh37	2	230661327	230661327	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	35	139	0	ENST00000283943.5:c.3571del	p.His1191MetfsTer28	p.H1191Mfs*28	ENST00000283943	NM_004238.1	1191	Cat/at	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS33391.1	3571	INDELOCATOR*|VARSCANI*|PINDEL	.	ATACATGAAGAA	BUFFER|p.S1195fs*24|c.3583delT|4	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	.	.	ENSP00000283943	.	24/41	.	.	.	.	.	.	.	.	.	24/41	PASS	ENST00000283943	Transcript	.	.	ENSG00000153827	12306	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRIPC_HUMAN	TRIP12	HGNC	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN	.	UPI000013739D	deletion	TRIP12,frameshift_variant,p.His1191MetfsTer28,ENST00000283943,;TRIP12,frameshift_variant,p.His921MetfsTer28,ENST00000389045,;TRIP12,frameshift_variant,p.His1239MetfsTer28,ENST00000389044,;TRIP12,downstream_gene_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000461189,;TRIP12,upstream_gene_variant,,ENST00000470302,;TRIP12,upstream_gene_variant,,ENST00000495322,;	3750	139	207	SUCCESS
COL6A3	1293	.	GRCh37	2	238253847	238253847	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770166058	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	105	0	ENST00000295550.4:c.7102G>T	p.Gly2368Cys	p.G2368C	ENST00000295550	NM_004369.3	2368	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS33412.1	7102	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCCTTGG	NONE	.	.	hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83	.	.	ENSP00000295550	.	33/44	.	.	.	.	.	.	.	.	rs770166058	33/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Gly1761Cys,ENST00000472056,;COL6A3,missense_variant,p.Gly2162Cys,ENST00000409809,;COL6A3,missense_variant,p.Gly2368Cys,ENST00000295550,;COL6A3,missense_variant,p.Gly2167Cys,ENST00000347401,;COL6A3,missense_variant,p.Gly2168Cys,ENST00000346358,;COL6A3,missense_variant,p.Gly2162Cys,ENST00000353578,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	7555	105	82	SUCCESS
C2orf71	0	.	GRCh37	2	29294547	29294547	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs765126239	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	107	0	ENST00000331664.5:c.2581G>T	p.Glu861Ter	p.E861*	ENST00000331664	NM_001029883.2	861	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42669.1	2581	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCCTTGG	NONE	.	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	rs765126239	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,stop_gained,p.Glu861Ter,ENST00000331664,;	2581	107	100	SUCCESS
DNAH6	1768	.	GRCh37	2	84784866	84784866	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	31	124	0	ENST00000237449.6:c.1610T>G	p.Ile537Ser	p.I537S	ENST00000237449		537	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS46348.1	1610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTATTTTGG	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676	.	.	ENSP00000374045	.	11/77	.	.	.	.	.	.	.	.	.	11/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.439)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Ile537Ser,ENST00000237449,;DNAH6,missense_variant,p.Ile537Ser,ENST00000398278,;DNAH6,missense_variant,p.Ile537Ser,ENST00000389394,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,non_coding_transcript_exon_variant,,ENST00000494025,;	1747	124	122	SUCCESS
FANCD2	2177	.	GRCh37	3	10076196	10076196	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	25	154	0	ENST00000383807.1:c.249G>C	p.Leu83=	p.L83=	ENST00000383807	NM_001018115.1	83	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS2595.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGAGGAG	NONE	.	.	hmmpanther:PTHR32086,Pfam_domain:PF14631	.	.	ENSP00000287647	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000287647	Transcript	.	.	ENSG00000144554	3585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FACD2_HUMAN	FANCD2	HGNC	.	.	UPI000006F678	SNV	FANCD2,synonymous_variant,p.%3D,ENST00000383807,;FANCD2,synonymous_variant,p.%3D,ENST00000287647,;FANCD2,synonymous_variant,p.%3D,ENST00000431693,;FANCD2,synonymous_variant,p.%3D,ENST00000419585,;FANCD2,synonymous_variant,p.%3D,ENST00000383806,;RNU6-670P,upstream_gene_variant,,ENST00000364312,;FANCD2,upstream_gene_variant,,ENST00000438741,;FANCD2,3_prime_UTR_variant,,ENST00000435522,;	342	154	124	SUCCESS
KLF15	28999	.	GRCh37	3	126071030	126071030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	37	133	0	ENST00000296233.3:c.736G>T	p.Val246Phe	p.V246F	ENST00000296233	NM_014079.3	246	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS3036.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGACATTCT	NONE	.	.	hmmpanther:PTHR23223:SF146,hmmpanther:PTHR23223	.	.	ENSP00000296233	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000296233	Transcript	.	.	ENSG00000163884	14536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.526)	.	deleterious(0)	.	KLF15_HUMAN	KLF15	HGNC	.	.	UPI0000001659	SNV	KLF15,missense_variant,p.Val246Phe,ENST00000296233,;KLF15,downstream_gene_variant,,ENST00000509675,;	967	133	133	SUCCESS
TF	7018	.	GRCh37	3	133494329	133494330	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	58	0	ENST00000402696.3:c.1740_1741del	p.Leu580PhefsTer4	p.L580Ffs*4	ENST00000402696	NM_001063.3	580	ttGCtg/tttg	0	.	.	.	.	.	-	LL/FX	protein_coding	YES	CCDS3080.1	1740-1741	VARSCANI*|PINDEL	.	TGAGTTGCTGTGC	NONE	.	.	Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,PROSITE_patterns:PS00207,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408	.	.	ENSP00000385834	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	deletion	TF,frameshift_variant,p.Leu580PhefsTer4,ENST00000402696,;TF,frameshift_variant,p.Leu453PhefsTer4,ENST00000264998,;TF,3_prime_UTR_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;TF,downstream_gene_variant,,ENST00000462495,;	2225-2226	58	60	SUCCESS
NCBP2	22916	.	GRCh37	3	196669253	196669253	+	intron_variant	Intron	SNP	T	T	C	rs766982203	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	41	0	ENST00000321256.5:c.78+44A>G		p.*26*	ENST00000321256	NM_007362.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3323.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGTTCTTG	NONE	.	.	.	.	.	ENSP00000326806	.	.	.	.	.	.	.	.	.	.	rs766982203	.	PASS	ENST00000321256	Transcript	.	.	ENSG00000114503	7659	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCBP2_HUMAN	NCBP2	HGNC	B3KSB0_HUMAN,C9JQX9_HUMAN	.	UPI0000046578	SNV	NCBP2,5_prime_UTR_variant,,ENST00000411704,;NCBP2,5_prime_UTR_variant,,ENST00000452404,;NCBP2,intron_variant,,ENST00000427641,;NCBP2,intron_variant,,ENST00000321256,;PIGZ,downstream_gene_variant,,ENST00000413127,;NCBP2,upstream_gene_variant,,ENST00000422610,;PIGZ,downstream_gene_variant,,ENST00000412723,;NCBP2,upstream_gene_variant,,ENST00000447325,;NCBP2,upstream_gene_variant,,ENST00000455953,;NCBP2-AS2,upstream_gene_variant,,ENST00000602845,;NCBP2-AS1,intron_variant,,ENST00000447775,;NCBP2,upstream_gene_variant,,ENST00000467803,;NCBP2,missense_variant,p.Asn41Ser,ENST00000428425,;NCBP2,non_coding_transcript_exon_variant,,ENST00000482976,;NCBP2,intron_variant,,ENST00000463783,;NCBP2,intron_variant,,ENST00000468923,;NCBP2,upstream_gene_variant,,ENST00000479647,;	.	41	47	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	46	161	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	161	155	SUCCESS
ALS2CL	259173	.	GRCh37	3	46727834	46727834	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	25	120	0	ENST00000318962.4:c.630A>G	p.Thr210=	p.T210=	ENST00000318962	NM_147129.3	210	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2743.1	630	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTGTGGC	NONE	.	.	Superfamily_domains:SSF48065,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114	.	.	ENSP00000313670	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000318962	Transcript	.	.	ENSG00000178038	20605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL2CL_HUMAN	ALS2CL	HGNC	G3V0I7_HUMAN	.	UPI00001B5641	SNV	ALS2CL,synonymous_variant,p.%3D,ENST00000415953,;ALS2CL,synonymous_variant,p.%3D,ENST00000318962,;ALS2CL,synonymous_variant,p.%3D,ENST00000423707,;ALS2CL,synonymous_variant,p.%3D,ENST00000450172,;ALS2CL,synonymous_variant,p.%3D,ENST00000431015,;ALS2CL,synonymous_variant,p.%3D,ENST00000434140,;	714	121	108	SUCCESS
RAD54L2	23132	.	GRCh37	3	51690041	51690041	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	99	0	ENST00000409535.2:c.3081G>A	p.Gln1027=	p.Q1027=	ENST00000409535	NM_015106.2	1027	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS33765.2	3081	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAGTCCAC	NONE	.	.	hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799	.	.	ENSP00000386520	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000409535	Transcript	.	.	ENSG00000164080	29123	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARIP4_HUMAN	RAD54L2	HGNC	E7EU19_HUMAN	.	UPI000022C0AA	SNV	RAD54L2,synonymous_variant,p.%3D,ENST00000296477,;RAD54L2,synonymous_variant,p.%3D,ENST00000432863,;RAD54L2,synonymous_variant,p.%3D,ENST00000409535,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;	3206	99	66	SUCCESS
FAM19A1	0	.	GRCh37	3	68055695	68055695	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	83	0	ENST00000478136.1:c.-3-72C>T		p.*1*	ENST00000478136	NM_213609.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54606.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCTCATC	NONE	.	.	.	.	.	ENSP00000418575	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000478136	Transcript	.	.	ENSG00000183662	21587	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F19A1_HUMAN	FAM19A1	HGNC	.	.	UPI00001B3DB2	SNV	FAM19A1,5_prime_UTR_variant,,ENST00000496687,;FAM19A1,intron_variant,,ENST00000478136,;	.	83	76	SUCCESS
FAT1	2195	.	GRCh37	4	187539094	187539094	+	synonymous_variant	Silent	SNP	A	A	G	rs767714665	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	27	100	0	ENST00000441802.2:c.8646T>C	p.Asn2882=	p.N2882=	ENST00000441802	NM_005245.3	2882	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS47177.1	8646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTAATTGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	10/27	.	.	.	.	.	.	.	.	rs767714665	10/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,synonymous_variant,p.%3D,ENST00000441802,;	8856	100	92	SUCCESS
CCDC96	257236	.	GRCh37	4	7043534	7043534	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781608378	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	16	88	0	ENST00000310085.4:c.1132G>A	p.Glu378Lys	p.E378K	ENST00000310085	NM_153376.2	378	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS3395.1	1132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTCCAGCC	NONE	byFrequency	.	hmmpanther:PTHR15654,hmmpanther:PTHR15654:SF1,Pfam_domain:PF13870	.	.	ENSP00000309285	.	1/1	.	.	.	.	.	.	.	.	rs781608378	1/1	PASS	ENST00000310085	Transcript	.	.	ENSG00000173013	26900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.02)	.	CCD96_HUMAN	CCDC96	HGNC	.	.	UPI00000705C9	SNV	CCDC96,missense_variant,p.Glu378Lys,ENST00000310085,;TADA2B,upstream_gene_variant,,ENST00000506692,;TADA2B,upstream_gene_variant,,ENST00000310074,;TADA2B,upstream_gene_variant,,ENST00000512388,;RP11-367J11.2,intron_variant,,ENST00000500031,;	1195	88	78	SUCCESS
CXCL2	2920	.	GRCh37	4	74964377	74964377	+	synonymous_variant	Silent	SNP	T	T	C	rs746075939	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	39	145	0	ENST00000508487.2:c.249A>G	p.Lys83=	p.K83=	ENST00000508487	NM_002089.3	83	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS34008.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCTTTCTG	NONE	.	.	Prints_domain:PR00436,Prints_domain:PR00437,Superfamily_domains:SSF54117,SMART_domains:SM00199,Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00471,hmmpanther:PTHR10179:SF39,hmmpanther:PTHR10179	.	.	ENSP00000427279	.	3/4	.	.	.	.	.	.	.	.	rs746075939	3/4	PASS	ENST00000508487	Transcript	.	.	ENSG00000081041	4603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCL2_HUMAN	CXCL2	HGNC	Q6LD33_HUMAN	.	UPI0000047AA8	SNV	CXCL2,synonymous_variant,p.%3D,ENST00000508487,;CXCL2,non_coding_transcript_exon_variant,,ENST00000296031,;CXCL2,non_coding_transcript_exon_variant,,ENST00000510048,;	422	145	102	SUCCESS
MTHFD2L	441024	.	GRCh37	4	75040279	75040279	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs760128533	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	105	0	ENST00000395759.2:c.200T>C	p.Ile67Thr	p.I67T	ENST00000395759	NM_001144978.1	67	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS47075.1	200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATACAGC	NONE	.	.	HAMAP:MF_01576,hmmpanther:PTHR10025:SF15,hmmpanther:PTHR10025,Pfam_domain:PF00763,Gene3D:3.40.192.10,Superfamily_domains:SSF53223	.	.	ENSP00000379108	.	2/8	.	.	.	.	.	.	.	.	rs760128533	2/8	PASS	ENST00000395759	Transcript	.	.	ENSG00000163738	31865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.532)	.	deleterious(0.01)	.	MTD2L_HUMAN	MTHFD2L	HGNC	F8W7P9_HUMAN	.	UPI000192952C	SNV	MTHFD2L,missense_variant,p.Ile67Thr,ENST00000395759,;MTHFD2L,missense_variant,p.Ile9Thr,ENST00000359107,;MTHFD2L,missense_variant,p.Ile9Thr,ENST00000331145,;MTHFD2L,missense_variant,p.Ile9Thr,ENST00000325278,;MTHFD2L,5_prime_UTR_variant,,ENST00000433372,;MTHFD2L,missense_variant,p.Ile9Thr,ENST00000423607,;MTHFD2L,missense_variant,p.Ile9Thr,ENST00000429335,;MTHFD2L,missense_variant,p.Ile9Thr,ENST00000429519,;	227	105	74	SUCCESS
SORCS2	57537	.	GRCh37	4	7725465	7725465	+	synonymous_variant	Silent	SNP	C	C	T	rs373781482	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	59	0	ENST00000507866.2:c.2466C>T	p.Asp822=	p.D822=	ENST00000507866	NM_020777.2	822	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS47008.1	2466	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACGGCTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50093,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Pfam_domain:PF00801,Gene3D:2.60.40.670,SMART_domains:SM00089,Superfamily_domains:SSF49299	.	.	ENSP00000422185	.	19/27	.	.	.	.	.	.	.	.	rs373781482	19/27	PASS	ENST00000507866	Transcript	.	.	ENSG00000184985	16698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC2_HUMAN	SORCS2	HGNC	.	.	UPI0000EE6E4F	SNV	SORCS2,synonymous_variant,p.%3D,ENST00000329016,;SORCS2,synonymous_variant,p.%3D,ENST00000507866,;	2575	59	48	SUCCESS
PCDHB13	56123	.	GRCh37	5	140595793	140595793	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	62	0	ENST00000341948.4:c.2098C>A	p.Leu700Ile	p.L700I	ENST00000341948	NM_018933.2	700	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS4255.1	2098	RADIA|MUTECT|MUSE	.	CTTCGCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.487)	.	deleterious_low_confidence(0.01)	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,missense_variant,p.Leu700Ile,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	2285	62	56	SUCCESS
GABRG2	2566	.	GRCh37	5	161569259	161569259	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	37	155	0	ENST00000361925.4:c.859G>A	p.Val287Ile	p.V287I	ENST00000361925		287	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS47333.1	979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTGTCGTC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00253,Superfamily_domains:SSF90112,Pfam_domain:PF02932,Gene3D:1.20.58.390,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,missense_variant,p.Val192Ile,ENST00000393933,;GABRG2,missense_variant,p.Val287Ile,ENST00000361925,;GABRG2,missense_variant,p.Val287Ile,ENST00000356592,;GABRG2,missense_variant,p.Val192Ile,ENST00000522053,;GABRG2,missense_variant,p.Val327Ile,ENST00000414552,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	1204	155	171	SUCCESS
CLTB	1212	.	GRCh37	5	175819809	175819809	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	87	0	ENST00000310418.4:c.656T>C	p.Leu219Pro	p.L219P	ENST00000310418	NM_007097.3	219	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS4403.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGAGCACC	NONE	.	.	hmmpanther:PTHR10639,hmmpanther:PTHR10639:SF2,PROSITE_patterns:PS00581,Pfam_domain:PF01086	.	.	ENSP00000309415	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000310418	Transcript	.	.	ENSG00000175416	2091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLCB_HUMAN	CLTB	HGNC	.	.	UPI0000127AA2	SNV	CLTB,missense_variant,p.Leu201Pro,ENST00000345807,;CLTB,missense_variant,p.Leu219Pro,ENST00000310418,;CLTB,missense_variant,p.Leu121Pro,ENST00000502877,;CLTB,3_prime_UTR_variant,,ENST00000508425,;ARL10,intron_variant,,ENST00000514533,;ARL10,downstream_gene_variant,,ENST00000503175,;NOP16,upstream_gene_variant,,ENST00000510123,;NOP16,upstream_gene_variant,,ENST00000509257,;NOP16,upstream_gene_variant,,ENST00000389158,;NOP16,upstream_gene_variant,,ENST00000507413,;HIGD2A,downstream_gene_variant,,ENST00000274787,;CLTB,3_prime_UTR_variant,,ENST00000510734,;NOP16,upstream_gene_variant,,ENST00000502663,;NOP16,upstream_gene_variant,,ENST00000502577,;NOP16,upstream_gene_variant,,ENST00000504821,;NOP16,upstream_gene_variant,,ENST00000510608,;NOP16,upstream_gene_variant,,ENST00000503849,;	862	87	125	SUCCESS
NADK2	133686	.	GRCh37	5	36219713	36219713	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs376035643	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	41	0	ENST00000381937.4:c.629A>G	p.Tyr210Cys	p.Y210C	ENST00000381937	NM_001085411.1	210	tAt/tGt	0	C:0.0005	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47197.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGATAGAAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13158:SF3,hmmpanther:PTHR13158,Pfam_domain:PF01513,Gene3D:3.40.50.10330,PIRSF_domain:PIRSF017565,Superfamily_domains:SSF111331	.	C:0.0001	ENSP00000371362	.	5/12	.	.	.	.	.	.	.	.	rs376035643	5/12	PASS	ENST00000381937	Transcript	.	.	ENSG00000152620	26404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.19)	.	NAKD2_HUMAN	NADK2	HGNC	Q49AR0_HUMAN,D6RHI4_HUMAN	.	UPI000150640C	SNV	NADK2,missense_variant,p.Tyr47Cys,ENST00000282512,;NADK2,missense_variant,p.Tyr210Cys,ENST00000381937,;NADK2,missense_variant,p.Tyr47Cys,ENST00000511088,;NADK2,missense_variant,p.Tyr47Cys,ENST00000506945,;NADK2,missense_variant,p.Tyr47Cys,ENST00000397338,;NADK2,missense_variant,p.Tyr210Cys,ENST00000514504,;NADK2-AS1,upstream_gene_variant,,ENST00000501794,;NADK2,upstream_gene_variant,,ENST00000404560,;	629	41	45	SUCCESS
ZNF366	167465	.	GRCh37	5	71756953	71756953	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773161566	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	52	148	0	ENST00000318442.5:c.371A>G	p.Tyr124Cys	p.Y124C	ENST00000318442	NM_152625.1	124	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS4015.1	371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCATACTTG	NONE	.	.	hmmpanther:PTHR24390:SF38,hmmpanther:PTHR24390	.	.	ENSP00000313158	.	2/5	.	.	.	.	.	.	.	.	rs773161566	2/5	PASS	ENST00000318442	Transcript	.	.	ENSG00000178175	18316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.17)	.	ZN366_HUMAN	ZNF366	HGNC	F8W732_HUMAN	.	UPI000013C368	SNV	ZNF366,missense_variant,p.Tyr124Cys,ENST00000318442,;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,missense_variant,p.Met62Val,ENST00000514477,;	862	148	203	SUCCESS
THBS4	7060	.	GRCh37	5	79351761	79351761	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759429718	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	22	83	0	ENST00000350881.2:c.446A>G	p.Gln149Arg	p.Q149R	ENST00000350881	NM_003248.4	149	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4049.1	446	RADIA|MUTECT|MUSE	.	CATCCAGGTGG	NONE	.	.	hmmpanther:PTHR10199:SF4,hmmpanther:PTHR10199,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000339730	.	3/22	.	.	.	.	.	.	.	.	rs759429718	3/22	PASS	ENST00000350881	Transcript	.	.	ENSG00000113296	11788	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.83)	.	TSP4_HUMAN	THBS4	HGNC	E7ES19_HUMAN	.	UPI000013D591	SNV	THBS4,missense_variant,p.Gln149Arg,ENST00000350881,;THBS4,missense_variant,p.Gln58Arg,ENST00000511733,;CTD-2201I18.1,intron_variant,,ENST00000503007,;THBS4,non_coding_transcript_exon_variant,,ENST00000510218,;THBS4,downstream_gene_variant,,ENST00000513310,;	636	83	128	SUCCESS
TAS2R1	50834	.	GRCh37	5	9630121	9630121	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	116	225	0	ENST00000382492.2:c.24C>T	p.Ile8=	p.I8=	ENST00000382492	NM_019599.2	8	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3876.1	24	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAGATAAT	NONE	.	.	hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF36,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000371932	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382492	Transcript	.	.	ENSG00000169777	14909	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TA2R1_HUMAN	TAS2R1	HGNC	U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN	.	UPI0000038B09	SNV	TAS2R1,synonymous_variant,p.%3D,ENST00000382492,;TAS2R1,intron_variant,,ENST00000514078,;TAS2R1,intron_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;	343	225	252	SUCCESS
DSE	29940	.	GRCh37	6	116720771	116720771	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	80	0	ENST00000331677.3:c.358A>T	p.Ile120Phe	p.I120F	ENST00000331677		120	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS5107.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACATTGAA	NONE	.	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532,Superfamily_domains:SSF48230	.	.	ENSP00000332151	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	deleterious(0.05)	.	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,missense_variant,p.Ile120Phe,ENST00000452085,;DSE,missense_variant,p.Ile120Phe,ENST00000430252,;DSE,missense_variant,p.Ile120Phe,ENST00000331677,;DSE,missense_variant,p.Ile139Phe,ENST00000537543,;DSE,missense_variant,p.Ile120Phe,ENST00000359564,;DSE,3_prime_UTR_variant,,ENST00000540275,;DSE,non_coding_transcript_exon_variant,,ENST00000607094,;	802	80	73	SUCCESS
HIVEP1	3096	.	GRCh37	6	12122422	12122422	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	70	122	0	ENST00000379388.2:c.2394A>T	p.Pro798=	p.P798=	ENST00000379388	NM_002114.2	798	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43426.1	2394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAGTGGG	NONE	.	.	hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	SNV	HIVEP1,synonymous_variant,p.%3D,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	2726	122	199	SUCCESS
IGF2R	3482	.	GRCh37	6	160494446	160494446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	23	98	0	ENST00000356956.1:c.4892A>G	p.Lys1631Arg	p.K1631R	ENST00000356956	NM_000876.2	1631	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5273.1	4892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAAGCAGA	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	34/48	.	.	.	.	.	.	.	.	.	34/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	tolerated(0.07)	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,missense_variant,p.Lys1631Arg,ENST00000356956,;IGF2R,upstream_gene_variant,,ENST00000487607,;	5040	98	84	SUCCESS
IGF2R	3482	.	GRCh37	6	160523558	160523558	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	30	184	0	ENST00000356956.1:c.6850T>G	p.Phe2284Val	p.F2284V	ENST00000356956	NM_000876.2	2284	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS5273.1	6850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTTTGAC	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439	.	.	ENSP00000349437	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.48)	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,missense_variant,p.Phe2284Val,ENST00000356956,;IGF2R,non_coding_transcript_exon_variant,,ENST00000475584,;	6998	184	149	SUCCESS
DEK	7913	.	GRCh37	6	18258580	18258580	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs147997771	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	83	200	0	ENST00000397239.3:c.202A>G	p.Met68Val	p.M68V	ENST00000397239	NM_003472.3	68	Atg/Gtg	0	C:0	.	.	.	.	C	M/V	protein_coding	YES	CCDS34344.1	202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCATTGTCA	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13468	.	C:0.0001	ENSP00000380414	.	3/11	.	.	.	.	.	.	.	.	rs147997771	3/11	PASS	ENST00000397239	Transcript	.	.	ENSG00000124795	2768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.31)	.	DEK_HUMAN	DEK	HGNC	D6RDA2_HUMAN	.	UPI0000001C2C	SNV	DEK,start_lost,p.Met1?,ENST00000503715,;DEK,missense_variant,p.Met73Val,ENST00000515742,;DEK,missense_variant,p.Met68Val,ENST00000397239,;DEK,intron_variant,,ENST00000244776,;DEK,splice_region_variant,,ENST00000505224,;DEK,upstream_gene_variant,,ENST00000515770,;DEK,upstream_gene_variant,,ENST00000512145,;	650	200	264	SUCCESS
C6orf195	0	.	GRCh37	6	2624102	2624104	+	5_prime_UTR_variant	5'UTR	DEL	TTC	TTC	-	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	112	45	156	0	ENST00000296847.3:c.-48_-46del		p.*16*	ENST00000296847	NM_152554.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43416.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTGATTCTTCTA	NONE	.	.	.	.	.	ENSP00000296847	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296847	Transcript	.	.	ENSG00000164385	21600	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CF195_HUMAN	C6orf195	HGNC	.	.	UPI000013E398	deletion	C6orf195,5_prime_UTR_variant,,ENST00000296847,;	477-479	156	157	SUCCESS
TNXB	7148	.	GRCh37	6	32064613	32064613	+	synonymous_variant	Silent	SNP	C	C	T	rs762908509	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	21	90	0	ENST00000375244.3:c.1017G>A	p.Thr339=	p.T339=	ENST00000375244		339	acG/acA	0	.	.	.	.	.	T	T	protein_coding	.	.	1017	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGCGTACC	NONE	.	.	hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50026	.	.	ENSP00000364396	.	3/44	.	.	.	.	.	.	.	.	rs762908509	3/44	PASS	ENST00000375247	Transcript	.	.	ENSG00000168477	11976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENX_HUMAN	TNXB	HGNC	Q9NPK8_HUMAN,Q9NPK7_HUMAN,B6RHJ5_HUMAN	.	UPI000174F11D	SNV	TNXB,synonymous_variant,p.%3D,ENST00000375247,;TNXB,synonymous_variant,p.%3D,ENST00000479795,;TNXB,synonymous_variant,p.%3D,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000442721,;ATF6B,downstream_gene_variant,,ENST00000494022,;TNXB,non_coding_transcript_exon_variant,,ENST00000486148,;	1219	90	97	SUCCESS
HMGCLL1	54511	.	GRCh37	6	55378944	55378944	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	48	92	0	ENST00000398661.2:c.534C>T	p.Ser178=	p.S178=	ENST00000398661	NM_019036.2	178	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS43475.1	534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAAGGATTC	NONE	.	.	PROSITE_profiles:PS50991,hmmpanther:PTHR10277:SF33,hmmpanther:PTHR10277,Pfam_domain:PF00682,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	.	.	ENSP00000381654	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000398661	Transcript	.	.	ENSG00000146151	21359	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMGC2_HUMAN	HMGCLL1	HGNC	.	.	UPI000023780E	SNV	HMGCLL1,synonymous_variant,p.%3D,ENST00000308161,;HMGCLL1,synonymous_variant,p.%3D,ENST00000398661,;HMGCLL1,synonymous_variant,p.%3D,ENST00000428842,;HMGCLL1,synonymous_variant,p.%3D,ENST00000274901,;HMGCLL1,intron_variant,,ENST00000370850,;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,;HMGCLL1,downstream_gene_variant,,ENST00000515546,;	666	93	91	SUCCESS
MB21D1	0	.	GRCh37	6	74150010	74150010	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	271	8	241	0	ENST00000370315.3:c.1036G>A	p.Ala346Thr	p.A346T	ENST00000370315	NM_138441.2	346	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4978.1	1036	MUTECT|MUSE	.	TTTTGCTGAAA	NONE	.	.	Pfam_domain:PF03281,hmmpanther:PTHR10656:SF35,hmmpanther:PTHR10656	.	.	ENSP00000359339	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000370315	Transcript	.	.	ENSG00000164430	21367	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(1)	.	CGAS_HUMAN	MB21D1	HGNC	A6PW79_HUMAN	.	UPI00001AEC2D	SNV	MB21D1,missense_variant,p.Ala346Thr,ENST00000370315,;MB21D1,missense_variant,p.Ala346Thr,ENST00000370318,;MB21D1,non_coding_transcript_exon_variant,,ENST00000459924,;	1131	241	280	SUCCESS
ATP6V0A4	50617	.	GRCh37	7	138394373	138394373	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	80	0	ENST00000310018.2:c.2425C>G	p.His809Asp	p.H809D	ENST00000310018	NM_020632.2	809	Cac/Gac	0	.	.	.	.	.	C	H/D	protein_coding	YES	CCDS5849.1	2425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGCAGTC	NONE	.	.	hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000308122	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000310018	Transcript	.	.	ENSG00000105929	866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	VPP4_HUMAN	ATP6V0A4	HGNC	.	.	UPI000013CDFD	SNV	ATP6V0A4,missense_variant,p.His809Asp,ENST00000310018,;ATP6V0A4,missense_variant,p.His809Asp,ENST00000393054,;ATP6V0A4,missense_variant,p.His809Asp,ENST00000353492,;	2708	80	63	SUCCESS
ZNF467	168544	.	GRCh37	7	149462853	149462853	+	synonymous_variant	Silent	SNP	G	G	A	rs774017938	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	29	106	0	ENST00000302017.3:c.738C>T	p.Cys246=	p.C246=	ENST00000302017	NM_207336.1	246	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS5899.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGCACGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF14,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	.	.	ENSP00000304769	.	5/5	.	.	.	.	.	.	.	.	rs774017938,COSM1548729	5/5	PASS	ENST00000302017	Transcript	.	.	ENSG00000181444	23154	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ZN467_HUMAN	ZNF467	HGNC	.	.	UPI0000160B41	SNV	ZNF467,synonymous_variant,p.%3D,ENST00000302017,;ZNF467,intron_variant,,ENST00000484747,;	1152	106	110	SUCCESS
NUDCD3	23386	.	GRCh37	7	44425666	44425666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	65	0	ENST00000355451.7:c.1030G>T	p.Gly344Cys	p.G344C	ENST00000355451	NM_015332.3	344	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS5490.2	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCTCGGA	NONE	.	.	hmmpanther:PTHR12356:SF16,hmmpanther:PTHR12356	.	.	ENSP00000347626	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000355451	Transcript	.	.	ENSG00000015676	22208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NUDC3_HUMAN	NUDCD3	HGNC	A4D2J8_HUMAN	.	UPI000020EEEB	SNV	NUDCD3,missense_variant,p.Gly344Cys,ENST00000355451,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000338427,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000460110,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000493613,;NUDCD3,intron_variant,,ENST00000487118,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000475952,;	1310	65	58	SUCCESS
C7orf72	0	.	GRCh37	7	50135733	50135733	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	28	133	0	ENST00000297001.6:c.52T>A	p.Ser18Thr	p.S18T	ENST00000297001	NM_001161834.2	18	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS47585.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGTCCATC	NONE	.	.	.	.	.	ENSP00000297001	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000297001	Transcript	.	.	ENSG00000164500	22564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.75)	.	CG072_HUMAN	C7orf72	HGNC	.	.	UPI00001D7424	SNV	C7orf72,missense_variant,p.Ser18Thr,ENST00000297001,;ZPBP,intron_variant,,ENST00000450231,;ZPBP,upstream_gene_variant,,ENST00000419417,;ZPBP,upstream_gene_variant,,ENST00000046087,;ZPBP,upstream_gene_variant,,ENST00000413331,;	102	134	123	SUCCESS
ABCB1	5243	.	GRCh37	7	87168617	87168617	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	25	0	ENST00000265724.3:c.2364C>A	p.Leu788=	p.L788=	ENST00000265724	NM_000927.4	788	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5608.1	2364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCGGAGCCG	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265724	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,synonymous_variant,p.%3D,ENST00000265724,;ABCB1,synonymous_variant,p.%3D,ENST00000543898,;ABCB1,upstream_gene_variant,,ENST00000496821,;	2782	25	42	SUCCESS
PEG10	23089	.	GRCh37	7	94293280	94293280	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	68	0	ENST00000482108.1:c.412G>A	p.Glu138Lys	p.E138K	ENST00000482108	NM_001172437.1	138	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS55126.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAGCGC	NONE	.	.	hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0,Pfam_domain:PF03732	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	.	tolerated(0.05)	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,missense_variant,p.Glu138Lys,ENST00000482108,;PEG10,missense_variant,p.Glu138Lys,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	891	68	59	SUCCESS
FAM83H	286077	.	GRCh37	8	144810754	144810754	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781905219	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	53	0	ENST00000388913.3:c.877C>T	p.Arg293Cys	p.R293C	ENST00000388913	NM_198488.3	293	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS6410.2	877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGCGGGCCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	.	.	ENSP00000373565	.	5/5	.	.	.	.	.	.	.	.	rs781905219	5/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	deleterious(0.02)	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,missense_variant,p.Arg293Cys,ENST00000388913,;MIR4664,downstream_gene_variant,,ENST00000583819,;FAM83H,missense_variant,p.Arg20Cys,ENST00000395103,;	1003	53	94	SUCCESS
SCRIB	23513	.	GRCh37	8	144885835	144885835	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	39	0	ENST00000320476.3:c.3396G>A	p.Glu1132=	p.E1132=	ENST00000320476	NM_015356.4	1132	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS6412.1	3396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCTCGTC	NONE	.	.	PROSITE_profiles:PS50106,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000349486	.	23/37	.	.	.	.	.	.	.	.	.	23/37	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,synonymous_variant,p.%3D,ENST00000377533,;SCRIB,synonymous_variant,p.%3D,ENST00000526832,;SCRIB,synonymous_variant,p.%3D,ENST00000356994,;SCRIB,synonymous_variant,p.%3D,ENST00000320476,;SCRIB,downstream_gene_variant,,ENST00000531942,;	3403	39	61	SUCCESS
MFSD3	113655	.	GRCh37	8	145735205	145735205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	52	50	0	ENST00000301327.4:c.489G>T	p.Trp163Cys	p.W163C	ENST00000301327	NM_138431.1	163	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS6431.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGCCGCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12778,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000301327	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000301327	Transcript	.	.	ENSG00000167700	25157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MFSD3_HUMAN	MFSD3	HGNC	.	.	UPI0000072E5F	SNV	MFSD3,missense_variant,p.Trp163Cys,ENST00000301327,;GPT,downstream_gene_variant,,ENST00000528431,;GPT,downstream_gene_variant,,ENST00000394955,;RECQL4,downstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000428558,;RECQL4,downstream_gene_variant,,ENST00000532846,;CTD-2517M22.14,upstream_gene_variant,,ENST00000527086,;CTD-2517M22.17,upstream_gene_variant,,ENST00000580385,;RECQL4,downstream_gene_variant,,ENST00000532237,;RECQL4,downstream_gene_variant,,ENST00000531875,;RECQL4,downstream_gene_variant,,ENST00000529424,;RECQL4,downstream_gene_variant,,ENST00000532269,;MFSD3,non_coding_transcript_exon_variant,,ENST00000528047,;MFSD3,non_coding_transcript_exon_variant,,ENST00000526749,;GPT,downstream_gene_variant,,ENST00000527165,;RECQL4,downstream_gene_variant,,ENST00000301323,;GPT,downstream_gene_variant,,ENST00000354769,;GPT,downstream_gene_variant,,ENST00000531330,;CTD-2517M22.14,upstream_gene_variant,,ENST00000528690,;MFSD3,upstream_gene_variant,,ENST00000534427,;GPT,downstream_gene_variant,,ENST00000534702,;GPT,downstream_gene_variant,,ENST00000527961,;	749	50	116	SUCCESS
ZNF16	7564	.	GRCh37	8	146157910	146157910	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	400	41	204	0	ENST00000276816.4:c.263C>A	p.Ser88Ter	p.S88*	ENST00000276816	NM_001029976.2	88	tCa/tAa	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS6437.1	263	MUTECT|MUSE|VARSCANS	.	CCTGTGATTCC	NONE	.	.	.	.	.	ENSP00000276816	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000276816	Transcript	.	.	ENSG00000170631	12947	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF16_HUMAN	ZNF16	HGNC	Q8ND22_HUMAN,E9PQV1_HUMAN,E9PNT9_HUMAN	.	UPI00001E058F	SNV	ZNF16,stop_gained,p.Ser88Ter,ENST00000532351,;ZNF16,stop_gained,p.Ser88Ter,ENST00000276816,;ZNF16,stop_gained,p.Ser88Ter,ENST00000527811,;ZNF16,stop_gained,p.Ser88Ter,ENST00000394909,;ZNF16,non_coding_transcript_exon_variant,,ENST00000527512,;ZNF16,non_coding_transcript_exon_variant,,ENST00000532811,;	450	204	441	SUCCESS
CYP7B1	9420	.	GRCh37	8	65537039	65537039	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	143	96	0	ENST00000310193.3:c.180G>T	p.Leu60=	p.L60=	ENST00000310193	NM_004820.3	60	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6180.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTCAGGAC	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF0,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264,Prints_domain:PR00465	.	.	ENSP00000310721	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000310193	Transcript	1	.	ENSG00000172817	2652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP7B1_HUMAN	CYP7B1	HGNC	.	.	UPI0000128218	SNV	CYP7B1,synonymous_variant,p.%3D,ENST00000310193,;	354	96	192	SUCCESS
GAPVD1	26130	.	GRCh37	9	128094293	128094293	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	76	0	ENST00000394104.2:c.2262G>T	p.Arg754Ser	p.R754S	ENST00000394104	NM_001282679.1	754	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS35138.1	2262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGGAGGT	NONE	.	.	hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101	.	.	ENSP00000377665	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.22)	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,missense_variant,p.Arg754Ser,ENST00000297933,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000470056,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000394104,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000394105,;GAPVD1,missense_variant,p.Arg617Ser,ENST00000431329,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000265956,;GAPVD1,missense_variant,p.Arg733Ser,ENST00000394083,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000467750,;GAPVD1,missense_variant,p.Arg591Ser,ENST00000436712,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000495955,;GAPVD1,missense_variant,p.Arg733Ser,ENST00000312123,;GAPVD1,missense_variant,p.Arg754Ser,ENST00000497580,;GAPVD1,upstream_gene_variant,,ENST00000479511,;	2422	76	65	SUCCESS
FAM205B	0	.	GRCh37	9	34833049	34833049	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	67	0	ENST00000399773.6:n.3252C>T		p.*1084*	ENST00000399773				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGCCTCT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	3252	67	73	SUCCESS
ENOX2	10495	.	GRCh37	X	129813673	129813673	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	64	131	0	ENST00000338144.3:c.390A>G	p.Val130=	p.V130=	ENST00000338144	NM_182314.1	130	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS14626.1	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAATACTGT	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF7,PROSITE_profiles:PS50102	.	.	ENSP00000337146	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000338144	Transcript	.	.	ENSG00000165675	2259	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENOX2_HUMAN	ENOX2	HGNC	B1AKF7_HUMAN	.	UPI00000729D5	SNV	ENOX2,synonymous_variant,p.%3D,ENST00000370927,;ENOX2,synonymous_variant,p.%3D,ENST00000432489,;ENOX2,synonymous_variant,p.%3D,ENST00000338144,;ENOX2,synonymous_variant,p.%3D,ENST00000394363,;ENOX2,synonymous_variant,p.%3D,ENST00000370935,;ENOX2,non_coding_transcript_exon_variant,,ENST00000492263,;	808	131	116	SUCCESS
MLLT10	8028	.	GRCh37	10	21901356	21901356	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	44	0	ENST00000307729.7:c.485G>T	p.Cys162Phe	p.C162F	ENST00000307729		162	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS55708.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGTCGAC	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF86,Pfam_domain:PF13832,SMART_domains:SM00249	.	.	ENSP00000307411	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000307729	Transcript	1	.	ENSG00000078403	16063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AF10_HUMAN	MLLT10	HGNC	Q71UR7_HUMAN,B4DVS6_HUMAN	.	UPI00001F8FF7	SNV	MLLT10,missense_variant,p.Cys162Phe,ENST00000446906,;MLLT10,missense_variant,p.Cys162Phe,ENST00000377059,;MLLT10,missense_variant,p.Cys162Phe,ENST00000307729,;MLLT10,missense_variant,p.Cys162Phe,ENST00000377072,;MLLT10,non_coding_transcript_exon_variant,,ENST00000495130,;	663	44	41	SUCCESS
NCOA4	8031	.	GRCh37	10	51568316	51568316	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	37	70	0	ENST00000452682.1:c.-41A>G		p.*14*	ENST00000452682	NM_001145260.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44394.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAACATA	NONE	.	.	.	.	.	ENSP00000395465	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000452682	Transcript	1	.	ENSG00000138293	7671	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA4_HUMAN	NCOA4	HGNC	.	.	UPI0001932817	SNV	NCOA4,5_prime_UTR_variant,,ENST00000452682,;NCOA4,5_prime_UTR_variant,,ENST00000438493,;NCOA4,intron_variant,,ENST00000430396,;NCOA4,intron_variant,,ENST00000414907,;NCOA4,intron_variant,,ENST00000374087,;NCOA4,upstream_gene_variant,,ENST00000374082,;NCOA4,upstream_gene_variant,,ENST00000344348,;NCOA4,upstream_gene_variant,,ENST00000431200,;NCOA4,intron_variant,,ENST00000498586,;	212	70	119	SUCCESS
IL10RA	3587	.	GRCh37	11	117860190	117860190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	191	94	210	0	ENST00000227752.3:c.222C>A	p.Asn74Lys	p.N74K	ENST00000227752	NM_001558.3	74	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS8388.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACTGTAG	NONE	.	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF01108,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	.	.	ENSP00000227752	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000227752	Transcript	.	.	ENSG00000110324	5964	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.19)	.	I10R1_HUMAN	IL10RA	HGNC	F5H5Y4_HUMAN	.	UPI000013C8BF	SNV	IL10RA,missense_variant,p.Asn74Lys,ENST00000227752,;IL10RA,missense_variant,p.Asn54Lys,ENST00000541785,;IL10RA,intron_variant,,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,non_coding_transcript_exon_variant,,ENST00000534335,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000531365,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,intron_variant,,ENST00000526544,;IL10RA,upstream_gene_variant,,ENST00000530178,;IL10RA,upstream_gene_variant,,ENST00000532009,;	342	210	285	SUCCESS
OR51B6	390058	.	GRCh37	11	5372775	5372775	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1374953820	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	79	139	0	ENST00000380219.1:c.38C>T	p.Thr13Ile	p.T13I	ENST00000380219	NM_001004750.1	13	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS31379.1	38	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTACTGGCT	NONE	.	.	hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF22,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380219	Transcript	.	.	ENSG00000176239	19600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.399)	.	deleterious(0.05)	.	O51B6_HUMAN	OR51B6	HGNC	.	.	UPI000014017D	SNV	OR51B6,missense_variant,p.Thr13Ile,ENST00000380219,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.31,upstream_gene_variant,,ENST00000450768,;	38	139	210	SUCCESS
TRIM51	84767	.	GRCh37	11	55659054	55659054	+	synonymous_variant	Silent	SNP	C	C	A	rs141376347	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	31	1	ENST00000449290.2:c.1305C>A	p.Pro435=	p.P435=	ENST00000449290	NM_032681.3	435	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	.	1305	SOMATICSNIPER|VARSCANS	.	ATCCCCAATTG	NONE	byCluster	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103,Pfam_domain:PF00622,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000395086	.	7/7	.	.	.	.	.	.	.	.	rs141376347	7/7	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,synonymous_variant,p.%3D,ENST00000449290,;TRIM51,synonymous_variant,p.%3D,ENST00000244891,;	1397	32	66	SUCCESS
EED	8726	.	GRCh37	11	85975252	85975264	+	protein_altering_variant	In_Frame_Del	DEL	CTGGTGGCAATAT	CTGGTGGCAATAT	ATAG	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	CTGGTGGCAATAT	CTGGTGGCAATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	107	37	119	0	ENST00000263360.6:c.673_685delinsATAG	p.Leu225_Phe229delinsIleVal	p.L225_F229delinsIV	ENST00000263360	NM_003797.3	225	CTGGTGGCAATATtt/ATAGtt	0	.	.	.	.	.	ATAG	LVAIF/IV	protein_coding	YES	CCDS8273.1	673-685	INDELOCATOR*|VARSCANI*|PINDEL	.	GACACTCTGGTGGCAATATTTGGA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR10253,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	.	.	ENSP00000263360	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000263360	Transcript	.	.	ENSG00000074266	3188	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EED_HUMAN	EED	HGNC	E9PMU3_HUMAN	.	UPI00000E88CF	substitution	EED,protein_altering_variant,p.Leu225_Phe229delinsIleVal,ENST00000263360,;EED,protein_altering_variant,p.Leu225_Phe229delinsIleVal,ENST00000327320,;EED,protein_altering_variant,p.Leu225_Phe229delinsIleVal,ENST00000528180,;EED,protein_altering_variant,p.Leu225_Phe229delinsIleVal,ENST00000351625,;EED,intron_variant,,ENST00000534595,;EED,non_coding_transcript_exon_variant,,ENST00000534564,;EED,non_coding_transcript_exon_variant,,ENST00000533228,;EED,non_coding_transcript_exon_variant,,ENST00000525244,;EED,upstream_gene_variant,,ENST00000524673,;	1359-1371	119	144	SUCCESS
EED	8726	.	GRCh37	11	85975264	85975264	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	22	115	0	ENST00000263360.6:c.685T>G	p.Phe229Val	p.F229V	ENST00000263360	NM_003797.3	229	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS8273.1	685	RADIA|VARSCANS	.	CAATATTTGGA	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR10253,PROSITE_profiles:PS50294	.	.	ENSP00000263360	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000263360	Transcript	.	.	ENSG00000074266	3188	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.974)	.	deleterious(0)	.	EED_HUMAN	EED	HGNC	E9PMU3_HUMAN	.	UPI00000E88CF	SNV	EED,missense_variant,p.Phe229Val,ENST00000263360,;EED,missense_variant,p.Phe229Val,ENST00000327320,;EED,missense_variant,p.Phe229Val,ENST00000528180,;EED,missense_variant,p.Phe229Val,ENST00000351625,;EED,intron_variant,,ENST00000534595,;EED,non_coding_transcript_exon_variant,,ENST00000534564,;EED,non_coding_transcript_exon_variant,,ENST00000533228,;EED,non_coding_transcript_exon_variant,,ENST00000525244,;EED,upstream_gene_variant,,ENST00000524673,;	1371	115	115	SUCCESS
EP400	57634	.	GRCh37	12	132512744	132512744	+	synonymous_variant	Silent	SNP	G	G	T	rs34531099	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	183	132	129	0	ENST00000389561.2:c.5292G>T	p.Ala1764=	p.A1764=	ENST00000389561	NM_015409.4	1764	gcG/gcT	0	A:0.007	A:0.0076	.	A:0	.	T	A	protein_coding	YES	CCDS31929.2	5292	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGCACAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799	A:0	A:0	ENSP00000374212	A:0	27/53	.	.	.	.	.	.	.	.	rs34531099	27/53	PASS	ENST00000389561	Transcript	.	A:0.0020	ENSG00000183495	11958	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	EP400_HUMAN	EP400	HGNC	.	.	UPI00004566BC	SNV	EP400,synonymous_variant,p.%3D,ENST00000389562,;EP400,synonymous_variant,p.%3D,ENST00000332482,;EP400,synonymous_variant,p.%3D,ENST00000389561,;EP400,synonymous_variant,p.%3D,ENST00000333577,;EP400,synonymous_variant,p.%3D,ENST00000330386,;SNORA49,upstream_gene_variant,,ENST00000386157,;	5401	129	315	SUCCESS
OVCH1	341350	.	GRCh37	12	29626033	29626033	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756791058	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	57	0	ENST00000318184.5:c.1604C>T	p.Ser535Phe	p.S535F	ENST00000318184	NM_183378.2	535	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	.	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAGACTCT	NONE	.	.	.	.	.	ENSP00000326708	.	15/28	.	.	.	.	.	.	.	.	rs756791058	15/28	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.693)	.	deleterious(0.04)	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,missense_variant,p.Ser535Phe,ENST00000318184,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	1604	57	48	SUCCESS
SYNE3	161176	.	GRCh37	14	95909555	95909555	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	52	93	0	ENST00000334258.5:c.1848C>T	p.Pro616=	p.P616=	ENST00000334258	NM_152592.3	616	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS9935.1	1848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTGGGGTT	NONE	.	.	Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	.	.	ENSP00000334308	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000334258	Transcript	.	.	ENSG00000176438	19861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE3_HUMAN	SYNE3	HGNC	.	.	UPI0000246F54	SNV	SYNE3,synonymous_variant,p.%3D,ENST00000554873,;SYNE3,synonymous_variant,p.%3D,ENST00000334258,;SYNE3,synonymous_variant,p.%3D,ENST00000557275,;SYNE3,downstream_gene_variant,,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	1863	93	152	SUCCESS
AP4E1	23431	.	GRCh37	15	51223097	51223097	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	66	0	ENST00000261842.5:c.798C>T	p.His266=	p.H266=	ENST00000261842	NM_001252127.1	266	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS32240.1	798	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACAGTGT	NONE	.	.	hmmpanther:PTHR22780:SF13,hmmpanther:PTHR22780,Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037097,Superfamily_domains:SSF48371	.	.	ENSP00000261842	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000261842	Transcript	1	.	ENSG00000081014	573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP4E1_HUMAN	AP4E1	HGNC	.	.	UPI00001D89D8	SNV	AP4E1,synonymous_variant,p.%3D,ENST00000261842,;AP4E1,synonymous_variant,p.%3D,ENST00000560508,;AP4E1,synonymous_variant,p.%3D,ENST00000558439,;AP4E1,synonymous_variant,p.%3D,ENST00000561441,;AP4E1,synonymous_variant,p.%3D,ENST00000561393,;	904	66	96	SUCCESS
CORO2B	10391	.	GRCh37	15	69011111	69011111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	55	71	0	ENST00000566799.1:c.1042G>T	p.Gly348Cys	p.G348C	ENST00000566799		348	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS10229.2	1042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGGCCTG	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF17,Pfam_domain:PF08954	.	.	ENSP00000454783	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000566799	Transcript	.	.	ENSG00000103647	2256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.01)	.	COR2B_HUMAN	CORO2B	HGNC	B3KWB4_HUMAN	.	UPI0000E59C95	SNV	CORO2B,missense_variant,p.Gly348Cys,ENST00000566799,;CORO2B,missense_variant,p.Gly343Cys,ENST00000540068,;CORO2B,missense_variant,p.Gly343Cys,ENST00000261861,;CORO2B,missense_variant,p.Gly343Cys,ENST00000543950,;	1071	71	150	SUCCESS
MYH1	4619	.	GRCh37	17	10406416	10406416	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	65	135	0	ENST00000226207.5:c.2841G>A	p.Leu947=	p.L947=	ENST00000226207	NM_005963.3	947	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11155.1	2841	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCAGTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,synonymous_variant,p.%3D,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2936	135	137	SUCCESS
SLC47A1	55244	.	GRCh37	17	19452981	19452981	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	60	85	0	ENST00000270570.4:c.489A>T	p.Pro163=	p.P163=	ENST00000270570	NM_018242.2	163	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11209.1	489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGCTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF73,Pfam_domain:PF01554,TIGRFAM_domain:TIGR00797	.	.	ENSP00000270570	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000270570	Transcript	.	.	ENSG00000142494	25588	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S47A1_HUMAN	SLC47A1	HGNC	B4E3B2_HUMAN,B4DPA7_HUMAN	.	UPI0000071042	SNV	SLC47A1,missense_variant,p.Gln15Leu,ENST00000571335,;SLC47A1,synonymous_variant,p.%3D,ENST00000436810,;SLC47A1,synonymous_variant,p.%3D,ENST00000270570,;SLC47A1,synonymous_variant,p.%3D,ENST00000395585,;SLC47A1,synonymous_variant,p.%3D,ENST00000457293,;SLC47A1,synonymous_variant,p.%3D,ENST00000542886,;SLC47A1,synonymous_variant,p.%3D,ENST00000575023,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000584348,;SLC47A1,downstream_gene_variant,,ENST00000576095,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000497548,;	575	85	94	SUCCESS
NLE1	54475	.	GRCh37	17	33467033	33467033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	175	83	157	1	ENST00000442241.4:c.215C>T	p.Ser72Leu	p.S72L	ENST00000442241	NM_001014445.1	72	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS11291.1	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGAGGAG	NONE	.	.	hmmpanther:PTHR19848:SF0,hmmpanther:PTHR19848,Pfam_domain:PF08154	.	.	ENSP00000413572	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000442241	Transcript	.	.	ENSG00000073536	19889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.366)	.	deleterious(0.03)	.	NLE1_HUMAN	NLE1	HGNC	K7ERN7_HUMAN	.	UPI000013D293	SNV	NLE1,missense_variant,p.Ser72Leu,ENST00000442241,;NLE1,missense_variant,p.Ser72Leu,ENST00000360831,;NLE1,5_prime_UTR_variant,,ENST00000586869,;NLE1,upstream_gene_variant,,ENST00000588019,;NLE1,non_coding_transcript_exon_variant,,ENST00000593176,;NLE1,missense_variant,p.Ser72Leu,ENST00000589367,;NLE1,intron_variant,,ENST00000588642,;	255	158	259	SUCCESS
PPP1R1B	84152	.	GRCh37	17	37792089	37792089	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	26	0	ENST00000254079.4:c.586C>T	p.Arg196Cys	p.R196C	ENST00000254079	NM_032192.3	196	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS11339.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCGCCCT	NONE	.	.	.	.	.	ENSP00000254079	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000254079	Transcript	.	.	ENSG00000131771	9287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0)	.	PPR1B_HUMAN	PPP1R1B	HGNC	Q9NNW1_HUMAN,B3KVQ9_HUMAN	.	UPI000012D808	SNV	PPP1R1B,missense_variant,p.Arg160Cys,ENST00000394265,;PPP1R1B,missense_variant,p.Arg196Cys,ENST00000580825,;PPP1R1B,missense_variant,p.Arg196Cys,ENST00000254079,;PPP1R1B,missense_variant,p.Arg160Cys,ENST00000394267,;PPP1R1B,missense_variant,p.Arg163Cys,ENST00000579000,;STARD3,upstream_gene_variant,,ENST00000577248,;PPP1R1B,downstream_gene_variant,,ENST00000582680,;STARD3,upstream_gene_variant,,ENST00000336308,;STARD3,upstream_gene_variant,,ENST00000579479,;STARD3,upstream_gene_variant,,ENST00000544210,;STARD3,upstream_gene_variant,,ENST00000581894,;STARD3,upstream_gene_variant,,ENST00000394250,;STARD3,upstream_gene_variant,,ENST00000580611,;STARD3,upstream_gene_variant,,ENST00000583718,;STARD3,upstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000585214,;STARD3,upstream_gene_variant,,ENST00000578232,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000580029,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000492037,;STARD3,upstream_gene_variant,,ENST00000583582,;STARD3,upstream_gene_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000578577,;PPP1R1B,downstream_gene_variant,,ENST00000583446,;	1055	26	70	SUCCESS
QRICH2	84074	.	GRCh37	17	74289942	74289954	+	frameshift_variant	Frame_Shift_Del	DEL	CCAGATCCTGATG	CCAGATCCTGATG	-	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	CCAGATCCTGATG	CCAGATCCTGATG	.	.	.	.	.	.	.	.	.	.	.	.	.	75	30	67	0	ENST00000262765.5:c.356_368del	p.Ala119ValfsTer97	p.A119Vfs*97	ENST00000262765	NM_032134.1	119	gCATCAGGATCTGGt/gt	0	.	.	.	.	.	-	ASGSG/X	protein_coding	YES	CCDS32741.1	356-368	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGCCACCAGATCCTGATGCAGTC	NONE	.	.	.	.	.	ENSP00000262765	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000262765	Transcript	.	.	ENSG00000129646	25326	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	deletion	QRICH2,frameshift_variant,p.Ala119ValfsTer97,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;	536-548	67	105	SUCCESS
CHST9	83539	.	GRCh37	18	24497007	24497007	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	66	0	ENST00000581714.1:c.548A>T	p.Gln183Leu	p.Q183L	ENST00000581714		183	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS42422.1	548	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTGAAGG	NONE	.	.	hmmpanther:PTHR12137:SF6,hmmpanther:PTHR12137	.	.	ENSP00000284224	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000284224	Transcript	.	.	ENSG00000154080	19898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.14)	.	CHST9_HUMAN	CHST9	HGNC	.	.	UPI000006EC67	SNV	CHST9,missense_variant,p.Gln183Leu,ENST00000581714,;CHST9,missense_variant,p.Gln183Leu,ENST00000284224,;CHST9,3_prime_UTR_variant,,ENST00000580774,;AQP4-AS1,intron_variant,,ENST00000578701,;AQP4-AS1,intron_variant,,ENST00000582605,;AQP4-AS1,intron_variant,,ENST00000568797,;AQP4-AS1,intron_variant,,ENST00000579964,;	826	66	81	SUCCESS
TCEB3C	0	.	GRCh37	18	44555102	44555102	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764152399	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	844	21	568	0	ENST00000330682.2:c.1112C>T	p.Thr371Met	p.T371M	ENST00000330682	NM_145653.3	371	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS11931.1	1112	MUTECT|MUSE	.	CGGGCGTCCAC	NONE	byFrequency	.	Pfam_domain:PF06881,hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36	.	.	ENSP00000328232	.	1/1	.	.	.	.	.	.	.	.	rs764152399,COSM988640	1/1	PASS	ENST00000330682	Transcript	.	.	ENSG00000183791	24617	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.708)	.	deleterious(0)	0,1	ELOA3_HUMAN	TCEB3C	HGNC	.	.	UPI0000140A9D	SNV	TCEB3C,missense_variant,p.Thr371Met,ENST00000330682,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3B,downstream_gene_variant,,ENST00000332567,;TCEB3CL,upstream_gene_variant,,ENST00000451265,;	1348	568	865	SUCCESS
DCC	1630	.	GRCh37	18	51025826	51025826	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	82	187	0	ENST00000442544.2:c.4057C>G	p.Pro1353Ala	p.P1353A	ENST00000442544	NM_005215.3	1353	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS11952.1	4057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACCAATG	NONE	.	.	hmmpanther:PTHR10489:SF68,hmmpanther:PTHR10489,Pfam_domain:PF06583	.	.	ENSP00000389140	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.25)	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,missense_variant,p.Pro986Ala,ENST00000581580,;DCC,missense_variant,p.Pro1353Ala,ENST00000442544,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,non_coding_transcript_exon_variant,,ENST00000579702,;	4673	187	263	SUCCESS
PLEKHA4	57664	.	GRCh37	19	49364729	49364729	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369244059	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	20	0	ENST00000263265.6:c.295G>A	p.Val99Ile	p.V99I	ENST00000263265	NM_020904.2	99	Gtc/Atc	0	T:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS12737.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGACGCTGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12752,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	T:0.0001	ENSP00000263265	.	5/20	.	.	.	.	.	.	.	.	rs369244059	5/20	PASS	ENST00000263265	Transcript	.	.	ENSG00000105559	14339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	tolerated(1)	.	PKHA4_HUMAN	PLEKHA4	HGNC	M0R2K5_HUMAN,M0QXJ3_HUMAN	.	UPI00000721A6	SNV	PLEKHA4,missense_variant,p.Val55Ile,ENST00000594100,;PLEKHA4,missense_variant,p.Val99Ile,ENST00000355496,;PLEKHA4,missense_variant,p.Val99Ile,ENST00000263265,;PLEKHA4,upstream_gene_variant,,ENST00000594195,;PLEKHA4,upstream_gene_variant,,ENST00000595867,;PLEKHA4,upstream_gene_variant,,ENST00000596713,;PLEKHA4,3_prime_UTR_variant,,ENST00000596982,;	851	20	33	SUCCESS
ZSCAN1	284312	.	GRCh37	19	58565260	58565260	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	46	81	0	ENST00000282326.1:c.1072del	p.Arg358GlyfsTer92	p.R358Gfs*92	ENST00000282326	NM_182572.3	356	ggC/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS12969.1	1068	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGGGCCCCCG	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187	.	.	ENSP00000282326	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000282326	Transcript	.	.	ENSG00000152467	23712	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSCA1_HUMAN	ZSCAN1	HGNC	.	.	UPI000013DCD2	deletion	ZSCAN1,frameshift_variant,p.Arg358GlyfsTer92,ENST00000282326,;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;	1315	81	159	SUCCESS
HNRNPM	4670	.	GRCh37	19	8520429	8520429	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	64	0	ENST00000325495.4:c.254A>G	p.Gln85Arg	p.Q85R	ENST00000325495	NM_005968.4	85	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS12203.1	254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCAGTCAC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23003,hmmpanther:PTHR23003:SF6,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000325376	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000325495	Transcript	.	.	ENSG00000099783	5046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	deleterious(0.01)	.	HNRPM_HUMAN	HNRNPM	HGNC	Q8TCM5_HUMAN,Q7KYM9_HUMAN	.	UPI000006E7A2	SNV	HNRNPM,missense_variant,p.Gln85Arg,ENST00000594907,;HNRNPM,missense_variant,p.Gln85Arg,ENST00000596984,;HNRNPM,missense_variant,p.Gln85Arg,ENST00000325495,;HNRNPM,missense_variant,p.Gln85Arg,ENST00000348943,;HNRNPM,missense_variant,p.Gln85Arg,ENST00000601645,;HNRNPM,missense_variant,p.Gln85Arg,ENST00000600092,;HNRNPM,missense_variant,p.Gln85Arg,ENST00000600806,;HNRNPM,non_coding_transcript_exon_variant,,ENST00000597813,;	295	64	109	SUCCESS
VPS13D	55187	.	GRCh37	1	12422877	12422877	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	94	100	0	ENST00000358136.3:c.10243T>C	p.Phe3415Leu	p.F3415L	ENST00000358136	NM_015378.2	3415	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS30588.1	10243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCATTTGCA	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF06650	.	.	ENSP00000350854	.	51/70	.	.	.	.	.	.	.	.	.	51/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,missense_variant,p.Phe3415Leu,ENST00000358136,;VPS13D,missense_variant,p.Phe2237Leu,ENST00000011700,;VPS13D,missense_variant,p.Phe3390Leu,ENST00000356315,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,upstream_gene_variant,,ENST00000496628,;	10373	100	188	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145281614	145281614	+	synonymous_variant	Silent	SNP	C	C	T	rs782394850	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1812	231	1212	0	ENST00000369340.3:c.544C>T	p.Leu182=	p.L182=	ENST00000369340		182	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS909.1	544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCCTGTAT	CODON|p.S181R|c.543C>A|3,CODON|p.S181R|c.543C>A|3	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF43,hmmpanther:PTHR24033,Gene3D:2.10.25.10	.	.	ENSP00000358346	.	5/6	.	.	.	.	.	.	.	.	rs782394850	5/6	PASS	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,synonymous_variant,p.%3D,ENST00000369340,;NOTCH2NL,synonymous_variant,p.%3D,ENST00000362074,;NOTCH2NL,synonymous_variant,p.%3D,ENST00000344859,;RP11-458D21.5,synonymous_variant,p.%3D,ENST00000468030,;	988	1213	2043	SUCCESS
OBSCN	84033	.	GRCh37	1	228482110	228482110	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769230573	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	11	105	0	ENST00000422127.1:c.11389G>A	p.Val3797Ile	p.V3797I	ENST00000422127	NM_001098623.2	3797	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS59204.1	12676	MUTECT|MUSE	.	TCACTGTCAGG	NONE	byFrequency	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	47/116	.	.	.	.	.	.	.	.	rs769230573	47/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.032)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Val916Ile,ENST00000366707,;OBSCN,missense_variant,p.Val916Ile,ENST00000366709,;OBSCN,missense_variant,p.Val1073Ile,ENST00000483539,;OBSCN,missense_variant,p.Val3797Ile,ENST00000284548,;OBSCN,missense_variant,p.Val2644Ile,ENST00000359599,;OBSCN,missense_variant,p.Val4226Ile,ENST00000570156,;OBSCN,missense_variant,p.Val3797Ile,ENST00000422127,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,non_coding_transcript_exon_variant,,ENST00000494839,;	12750	105	295	SUCCESS
COL20A1	57642	.	GRCh37	20	61937235	61937235	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	17	39	0	ENST00000358894.6:c.340G>T	p.Glu114Ter	p.E114*	ENST00000358894	NM_020882.2	114	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS46628.1	340	RADIA|MUTECT|MUSE	.	CAGTTGAGGAT	NONE	.	.	PROSITE_profiles:PS50853	.	.	ENSP00000351767	.	5/36	.	.	.	.	.	.	.	.	.	5/36	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,stop_gained,p.Glu114Ter,ENST00000358894,;COL20A1,stop_gained,p.Glu114Ter,ENST00000422202,;COL20A1,stop_gained,p.Glu114Ter,ENST00000326996,;COL20A1,stop_gained,p.Glu114Ter,ENST00000435874,;COL20A1,splice_region_variant,,ENST00000479501,;	440	39	115	SUCCESS
COL20A1	57642	.	GRCh37	20	61937407	61937407	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	31	47	0	ENST00000358894.6:c.496+16G>C		p.*166*	ENST00000358894	NM_020882.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46628.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGAGAGA	NONE	.	.	.	.	.	ENSP00000351767	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358894	Transcript	.	.	ENSG00000101203	14670	.	.	MODIFIER	5/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COKA1_HUMAN	COL20A1	HGNC	.	.	UPI000051910D	SNV	COL20A1,missense_variant,p.Arg171Thr,ENST00000422202,;COL20A1,missense_variant,p.Arg171Thr,ENST00000435874,;COL20A1,intron_variant,,ENST00000358894,;COL20A1,intron_variant,,ENST00000326996,;COL20A1,intron_variant,,ENST00000479501,;	.	47	153	SUCCESS
POTEH	23784	.	GRCh37	22	16287641	16287641	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	335	136	315	0	ENST00000343518.6:c.245C>T	p.Thr82Ile	p.T82I	ENST00000343518	NM_001136213.1	82	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS46658.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAGTGCCC	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	deleterious_low_confidence(0.02)	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Thr82Ile,ENST00000343518,;POTEH,missense_variant,p.Thr26Ile,ENST00000452800,;	297	315	471	SUCCESS
YPEL1	29799	.	GRCh37	22	22064931	22064931	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1204032355	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	322	36	208	0	ENST00000339468.3:c.103G>A	p.Glu35Lys	p.E35K	ENST00000339468	NM_013313.3	35	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS13794.1	103	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCGTCAT	NONE	.	.	hmmpanther:PTHR13847:SF151,hmmpanther:PTHR13847,Pfam_domain:PF03226	.	.	ENSP00000342832	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000339468	Transcript	.	.	ENSG00000100027	12845	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.311)	.	deleterious(0.01)	.	YPEL1_HUMAN	YPEL1	HGNC	.	.	UPI000013BE05	SNV	YPEL1,missense_variant,p.Glu35Lys,ENST00000403503,;YPEL1,missense_variant,p.Glu35Lys,ENST00000339468,;YPEL1,non_coding_transcript_exon_variant,,ENST00000477675,;	487	208	358	SUCCESS
TPO	7173	.	GRCh37	2	1520727	1520727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	63	0	ENST00000329066.4:c.2591G>T	p.Gly864Val	p.G864V	ENST00000329066	NM_001206744.1	864	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1643.1	2591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGTCTCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000318820	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.21)	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,missense_variant,p.Gly864Val,ENST00000329066,;TPO,missense_variant,p.Gly864Val,ENST00000337415,;TPO,missense_variant,p.Gly691Val,ENST00000382198,;TPO,missense_variant,p.Gly807Val,ENST00000382201,;TPO,missense_variant,p.Gly339Val,ENST00000446278,;TPO,missense_variant,p.Gly691Val,ENST00000349624,;TPO,missense_variant,p.Gly85Val,ENST00000425083,;TPO,missense_variant,p.Gly820Val,ENST00000346956,;TPO,missense_variant,p.Gly294Val,ENST00000469607,;TPO,missense_variant,p.Gly749Val,ENST00000422464,;TPO,missense_variant,p.Gly864Val,ENST00000345913,;TPO,non_coding_transcript_exon_variant,,ENST00000479902,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;	2682	63	102	SUCCESS
ITGB6	3694	.	GRCh37	2	161056696	161056696	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	18	0	ENST00000283249.2:c.-122G>A		p.*41*	ENST00000283249	NM_001282388.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2212.1	.	MUTECT|MUSE	.	ACTTACACTGC	NONE	.	.	.	.	.	ENSP00000283249	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000283249	Transcript	.	.	ENSG00000115221	6161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITB6_HUMAN	ITGB6	HGNC	.	.	UPI000012DA13	SNV	ITGB6,splice_donor_variant,,ENST00000409872,;ITGB6,5_prime_UTR_variant,,ENST00000428609,;ITGB6,5_prime_UTR_variant,,ENST00000409967,;ITGB6,5_prime_UTR_variant,,ENST00000283249,;ITGB6,intron_variant,,ENST00000485635,;ITGB6,downstream_gene_variant,,ENST00000498478,;ITGB6,5_prime_UTR_variant,,ENST00000409583,;	117	18	14	SUCCESS
FSIP2	401024	.	GRCh37	2	186673528	186673528	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	85	0	ENST00000424728.1:c.19495G>A	p.Val6499Met	p.V6499M	ENST00000424728		6499	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54426.1	19762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATGTGATT	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Val6588Met,ENST00000343098,;FSIP2,missense_variant,p.Val6499Met,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	19762	85	65	SUCCESS
BARD1	580	.	GRCh37	2	215617259	215617259	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	46	0	ENST00000260947.4:c.1589C>T	p.Pro530Leu	p.P530L	ENST00000260947	NM_000465.2	530	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS2397.1	1589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACAGGCCGC	NONE	.	.	hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000260947	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000260947	Transcript	.	.	ENSG00000138376	952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BARD1_HUMAN	BARD1	HGNC	.	.	UPI000013D11D	SNV	BARD1,missense_variant,p.Pro79Leu,ENST00000421162,;BARD1,missense_variant,p.Pro386Leu,ENST00000449967,;BARD1,missense_variant,p.Pro530Leu,ENST00000260947,;BARD1,3_prime_UTR_variant,,ENST00000455743,;BARD1,upstream_gene_variant,,ENST00000465841,;	1724	46	70	SUCCESS
AAMP	14	.	GRCh37	2	219134700	219134700	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	262	155	207	1	ENST00000248450.4:c.110C>G	p.Pro37Arg	p.P37R	ENST00000248450		37	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS33378.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGGACCG	NONE	.	.	hmmpanther:PTHR19857:SF17,hmmpanther:PTHR19857,Low_complexity_(Seg):seg	.	.	ENSP00000248450	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000248450	Transcript	.	.	ENSG00000127837	18	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious(0.05)	.	AAMP_HUMAN	AAMP	HGNC	C9JTS3_HUMAN	.	UPI0000209584	SNV	AAMP,missense_variant,p.Pro37Arg,ENST00000444053,;AAMP,missense_variant,p.Pro37Arg,ENST00000248450,;AAMP,upstream_gene_variant,,ENST00000422731,;TMBIM1,downstream_gene_variant,,ENST00000444881,;TMBIM1,downstream_gene_variant,,ENST00000396809,;TMBIM1,downstream_gene_variant,,ENST00000258412,;AAMP,upstream_gene_variant,,ENST00000420660,;PNKD,upstream_gene_variant,,ENST00000248451,;AAMP,upstream_gene_variant,,ENST00000447885,;PNKD,upstream_gene_variant,,ENST00000273077,;PNKD,upstream_gene_variant,,ENST00000472650,;AAMP,non_coding_transcript_exon_variant,,ENST00000475678,;AAMP,non_coding_transcript_exon_variant,,ENST00000461911,;AAMP,non_coding_transcript_exon_variant,,ENST00000489767,;AAMP,upstream_gene_variant,,ENST00000465442,;AAMP,upstream_gene_variant,,ENST00000494720,;PNKD,upstream_gene_variant,,ENST00000469689,;TMBIM1,downstream_gene_variant,,ENST00000465082,;	281	208	417	SUCCESS
CEBPZ	10153	.	GRCh37	2	37454714	37454714	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1039861251	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	42	0	ENST00000234170.5:c.1622C>T	p.Ser541Leu	p.S541L	ENST00000234170	NM_005760.2	541	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS1787.1	1622	MUTECT|MUSE	.	GATCCGATATT	SITE|p.S541L|c.1622C>T|3	.	.	hmmpanther:PTHR12048,Pfam_domain:PF03914,Superfamily_domains:SSF48371	.	.	ENSP00000234170	.	2/16	.	.	.	.	.	.	.	.	COSM1020717	2/16	PASS	ENST00000234170	Transcript	.	.	ENSG00000115816	24218	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CEBPZ_HUMAN	CEBPZ	HGNC	.	.	UPI0000072AAB	SNV	CEBPZ,missense_variant,p.Ser541Leu,ENST00000234170,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000002125,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;CEBPZ,downstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;NDUFAF7,upstream_gene_variant,,ENST00000336237,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;	1768	42	63	SUCCESS
CASR	846	.	GRCh37	3	121994752	121994752	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753238660	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	87	148	0	ENST00000490131.1:c.1471A>G	p.Ile491Val	p.I491V	ENST00000490131	NM_000388.3	491	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS54632.1	1471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCATCATC	NONE	.	.	hmmpanther:PTHR24061:SF358,hmmpanther:PTHR24061,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000420194	.	5/7	.	.	.	.	.	.	.	.	rs753238660	5/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	tolerated(0.31)	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,missense_variant,p.Ile491Val,ENST00000296154,;CASR,missense_variant,p.Ile491Val,ENST00000498619,;CASR,missense_variant,p.Ile491Val,ENST00000490131,;	1909	148	219	SUCCESS
FGD5	152273	.	GRCh37	3	14861791	14861791	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	65	0	ENST00000285046.5:c.1213G>T	p.Ala405Ser	p.A405S	ENST00000285046	NM_152536.3	405	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46767.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGGCCGAG	NONE	.	.	.	.	.	ENSP00000285046	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000285046	Transcript	.	.	ENSG00000154783	19117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.74)	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,missense_variant,p.Ala405Ser,ENST00000285046,;FGD5,missense_variant,p.Ala164Ser,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	1323	65	77	SUCCESS
KAT2B	8850	.	GRCh37	3	20113881	20113881	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	62	0	ENST00000263754.4:c.360C>G	p.Pro120=	p.P120=	ENST00000263754	NM_003884.4	120	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS2634.1	360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCCCCAG	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,Pfam_domain:PF06466,PIRSF_domain:PIRSF003048	.	.	ENSP00000263754	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	SNV	KAT2B,synonymous_variant,p.%3D,ENST00000263754,;KAT2B,non_coding_transcript_exon_variant,,ENST00000426228,;	815	62	79	SUCCESS
CACNA2D3	55799	.	GRCh37	3	54905638	54905638	+	synonymous_variant	Silent	SNP	C	C	A	rs770675947	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	59	128	0	ENST00000288197.5:c.1699C>A	p.Arg567=	p.R567=	ENST00000288197		567	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54598.1	1699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACCGAGAT	NONE	.	.	hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	.	.	ENSP00000419101	.	18/38	.	.	.	.	.	.	.	.	rs770675947	18/38	PASS	ENST00000474759	Transcript	.	.	ENSG00000157445	15460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA2D3_HUMAN	CACNA2D3	HGNC	C9JAV5_HUMAN	.	UPI000004A7BF	SNV	CACNA2D3,synonymous_variant,p.%3D,ENST00000474759,;CACNA2D3,synonymous_variant,p.%3D,ENST00000415676,;CACNA2D3,synonymous_variant,p.%3D,ENST00000490478,;CACNA2D3,synonymous_variant,p.%3D,ENST00000288197,;CACNA2D3-AS1,downstream_gene_variant,,ENST00000471265,;CACNA2D3,synonymous_variant,p.%3D,ENST00000477024,;CACNA2D3,synonymous_variant,p.%3D,ENST00000471363,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;	1747	128	174	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64148733	64148742	+	frameshift_variant	Frame_Shift_Del	DEL	TTCGCAGTTT	TTCGCAGTTT	-	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	TTCGCAGTTT	TTCGCAGTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	115	39	118	0	ENST00000295902.6:c.208_217del	p.Lys70SerfsTer29	p.K70Sfs*29	ENST00000295902	NM_198859.3	70	AAACTGCGAAtc/tc	0	.	.	.	.	.	-	KLRI/X	protein_coding	YES	CCDS2902.1	208-217	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTGATTCGCAGTTTCTCTC	NONE	.	.	PROSITE_profiles:PS51303,hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218,Pfam_domain:PF06297	.	.	ENSP00000295902	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	deletion	PRICKLE2,frameshift_variant,p.Lys70SerfsTer29,ENST00000295902,;PRICKLE2,frameshift_variant,p.Lys70SerfsTer29,ENST00000498162,;PRICKLE2,frameshift_variant,p.Lys126SerfsTer29,ENST00000564377,;	794-803	118	154	SUCCESS
CENPE	1062	.	GRCh37	4	104119493	104119493	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	53	0	ENST00000265148.3:c.-17C>T		p.*6*	ENST00000265148	NM_001813.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34042.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGGTCCC	NONE	.	.	.	.	.	ENSP00000265148	.	1/49	.	.	.	.	.	.	.	.	.	1/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,5_prime_UTR_variant,,ENST00000503705,;CENPE,5_prime_UTR_variant,,ENST00000380026,;CENPE,5_prime_UTR_variant,,ENST00000265148,;CENPE,5_prime_UTR_variant,,ENST00000514974,;	74	53	72	SUCCESS
SORCS2	57537	.	GRCh37	4	7714544	7714544	+	synonymous_variant	Silent	SNP	G	G	A	rs867776408	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	62	77	0	ENST00000507866.2:c.1953G>A	p.Glu651=	p.E651=	ENST00000507866	NM_020777.2	651	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS47008.1	1953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGAGGAGGA	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,SMART_domains:SM00602	.	.	ENSP00000422185	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000507866	Transcript	.	.	ENSG00000184985	16698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORC2_HUMAN	SORCS2	HGNC	.	.	UPI0000EE6E4F	SNV	SORCS2,synonymous_variant,p.%3D,ENST00000329016,;SORCS2,synonymous_variant,p.%3D,ENST00000507866,;	2062	77	148	SUCCESS
NME5	8382	.	GRCh37	5	137465065	137465065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	40	135	0	ENST00000265191.2:c.222G>A	p.Met74Ile	p.M74I	ENST00000265191	NM_003551.2	74	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS4197.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTCATGTA	NONE	.	.	hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF52,Gene3D:3.30.70.141,Pfam_domain:PF00334,PIRSF_domain:PIRSF036504,SMART_domains:SM00562,Superfamily_domains:SSF54919,Prints_domain:PR01243	.	.	ENSP00000265191	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000265191	Transcript	.	.	ENSG00000112981	7853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.679)	.	tolerated(0.1)	.	NDK5_HUMAN	NME5	HGNC	.	.	UPI000000129C	SNV	NME5,missense_variant,p.Met74Ile,ENST00000265191,;NME5,non_coding_transcript_exon_variant,,ENST00000508252,;NME5,upstream_gene_variant,,ENST00000506657,;NME5,downstream_gene_variant,,ENST00000511353,;	272	135	128	SUCCESS
PIK3R1	5295	.	GRCh37	5	67591127	67591129	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	.	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	42	51	89	0	ENST00000274335.5:c.1721_1723del	p.Arg574del	p.R574del	ENST00000274335		574	AGA/-	0	.	.	.	.	.	-	R/-	protein_coding	YES	CCDS3993.1	1720-1722	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCTGAGAAAGAC	CODON|p.R274G|c.820A>G|3,CODON|p.R574G|c.1720A>G|3,CODON|p.R304G|c.910A>G|3,BUFFER|p.L273P|c.818T>C|6,BUFFER|p.L573P|c.1718T>C|6,BUFFER|p.L303P|c.908T>C|6,BUFFER|p.R574I|c.1721G>T|3,BUFFER|p.R574T|c.1721G>C|3	.	.	hmmpanther:PTHR10155:SF3,hmmpanther:PTHR10155,Prints_domain:PR00678	.	.	ENSP00000428056	.	13/16	.	.	.	.	.	.	.	.	COSM450000,COSM1486942,COSM1486941	13/16	PASS	ENST00000521381	Transcript	1	.	ENSG00000145675	8979	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1	.	.	.	.	.	1,1,1	P85A_HUMAN	PIK3R1	HGNC	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN	.	UPI000013D9FF	deletion	PIK3R1,inframe_deletion,p.Arg574del,ENST00000274335,;PIK3R1,inframe_deletion,p.Arg574del,ENST00000521381,;PIK3R1,inframe_deletion,p.Arg304del,ENST00000336483,;PIK3R1,inframe_deletion,p.Arg574del,ENST00000396611,;PIK3R1,inframe_deletion,p.Arg574del,ENST00000521657,;PIK3R1,inframe_deletion,p.Arg274del,ENST00000320694,;PIK3R1,inframe_deletion,p.Arg211del,ENST00000523872,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	2336-2338	89	93	SUCCESS
RFX6	222546	.	GRCh37	6	117237178	117237178	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs931311046	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	48	94	0	ENST00000332958.2:c.788C>T	p.Thr263Met	p.T263M	ENST00000332958	NM_173560.3	263	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS5113.1	788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATACGCTCA	NONE	.	.	hmmpanther:PTHR12619:SF16,hmmpanther:PTHR12619	.	.	ENSP00000332208	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000332958	Transcript	.	.	ENSG00000185002	21478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	RFX6_HUMAN	RFX6	HGNC	.	.	UPI00001609BE	SNV	RFX6,missense_variant,p.Thr263Met,ENST00000332958,;RFX6,non_coding_transcript_exon_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	804	94	125	SUCCESS
ZBTB2	57621	.	GRCh37	6	151694605	151694605	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1415634952	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	78	141	0	ENST00000325144.4:c.168G>C	p.Gln56His	p.Q56H	ENST00000325144	NM_020861.1	56	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS5231.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTGATG	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000323183	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	deleterious(0)	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,missense_variant,p.Gln56His,ENST00000325144,;Y_RNA,downstream_gene_variant,,ENST00000516806,;	309	141	231	SUCCESS
SNX9	51429	.	GRCh37	6	158296186	158296186	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374744867	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	53	103	1	ENST00000392185.3:c.278C>T	p.Ser93Leu	p.S93L	ENST00000392185	NM_016224.4	93	tCg/tTg	0	T:0	.	.	.	.	T	S/L	protein_coding	YES	CCDS5253.1	278	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTCGGCTG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF14,PIRSF_domain:PIRSF027744	.	T:0.0001	ENSP00000376024	.	4/18	.	.	.	.	.	.	.	.	rs374744867	4/18	PASS	ENST00000392185	Transcript	.	.	ENSG00000130340	14973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.11)	.	SNX9_HUMAN	SNX9	HGNC	B3KXH8_HUMAN	.	UPI0000135B47	SNV	SNX9,missense_variant,p.Ser93Leu,ENST00000392185,;RP11-52J3.2,non_coding_transcript_exon_variant,,ENST00000457427,;RP11-52J3.2,non_coding_transcript_exon_variant,,ENST00000422776,;	449	104	151	SUCCESS
KLHL32	114792	.	GRCh37	6	97561726	97561726	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752627797	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	84	163	0	ENST00000369261.4:c.695G>A	p.Arg232His	p.R232H	ENST00000369261	NM_052904.3	232	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS5038.1	695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGCTTTG	NONE	.	.	PIRSF_domain:PIRSF037037,SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65	.	.	ENSP00000358265	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,missense_variant,p.Arg163His,ENST00000539200,;KLHL32,missense_variant,p.Arg196His,ENST00000536676,;KLHL32,missense_variant,p.Arg232His,ENST00000369261,;KLHL32,synonymous_variant,p.%3D,ENST00000447886,;KLHL32,intron_variant,,ENST00000369254,;KLHL32,intron_variant,,ENST00000544166,;	1058	163	162	SUCCESS
STRIP2	57464	.	GRCh37	7	129122874	129122874	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	66	118	1	ENST00000249344.2:c.2241G>C	p.Trp747Cys	p.W747C	ENST00000249344	NM_020704.2	747	tgG/tgC	0	.	.	.	.	.	C	W/C	protein_coding	YES	CCDS34752.1	2241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGGCTTA	NONE	.	.	hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6,Pfam_domain:PF11882	.	.	ENSP00000249344	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000249344	Transcript	.	.	ENSG00000128578	22209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	STRP2_HUMAN	STRIP2	HGNC	A4D1K4_HUMAN	.	UPI00001C1E68	SNV	STRIP2,missense_variant,p.Trp747Cys,ENST00000435494,;STRIP2,missense_variant,p.Trp747Cys,ENST00000249344,;RNU1-72P,upstream_gene_variant,,ENST00000362976,;SNRPGP3,downstream_gene_variant,,ENST00000469405,;	2281	120	177	SUCCESS
SSPO	0	.	GRCh37	7	149523815	149523815	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs773536375	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	24	0	ENST00000378016.2:n.14628C>G		p.*4876*	ENST00000378016				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACCCAGCA	NONE	byFrequency	.	.	.	.	.	.	102/109	.	.	.	.	.	.	.	.	rs773536375	102/109	PASS	ENST00000378016	Transcript	.	.	ENSG00000197558	21998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SSPO	HGNC	.	.	.	SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000493567,;SSPO,intron_variant,,ENST00000492965,;SSPO,intron_variant,,ENST00000488835,;SSPO,intron_variant,,ENST00000461331,;SSPO,downstream_gene_variant,,ENST00000464974,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,intron_variant,,ENST00000472850,;	14628	24	35	SUCCESS
EN2	2020	.	GRCh37	7	155251239	155251239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	13	0	ENST00000297375.4:c.167C>A	p.Ala56Glu	p.A56E	ENST00000297375	NM_001427.3	56	gCg/gAg	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS5940.1	167	RADIA|MUTECT|MUSE	.	GCAGGCGCCCG	NONE	.	.	hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341	.	.	ENSP00000297375	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000297375	Transcript	.	.	ENSG00000164778	3343	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.016)	.	deleterious(0.02)	.	HME2_HUMAN	EN2	HGNC	.	.	UPI000012CA05	SNV	EN2,missense_variant,p.Ala56Glu,ENST00000297375,;AC008060.8,upstream_gene_variant,,ENST00000419225,;	416	13	11	SUCCESS
MTERF	0	.	GRCh37	7	91503047	91503053	+	frameshift_variant	Frame_Shift_Del	DEL	GAATCCA	GAATCCA	-	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	GAATCCA	GAATCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	65	0	ENST00000351870.3:c.1055_1061del	p.Leu352GlnfsTer3	p.L352Qfs*3	ENST00000351870	NM_006980.3	352	cTGGATTCa/ca	0	.	.	.	.	.	-	LDS/X	protein_coding	YES	CCDS5621.1	1055-1061	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCTTGAATCCAGAACC	NONE	.	.	SMART_domains:SM00733,Pfam_domain:PF02536,hmmpanther:PTHR15437:SF2,hmmpanther:PTHR15437	.	.	ENSP00000248643	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000351870	Transcript	.	.	ENSG00000127989	21463	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTERF_HUMAN	MTERF	HGNC	C9JU79_HUMAN,C9JNM8_HUMAN,C9JE25_HUMAN,B4DPR9_HUMAN	.	UPI000004A0C8	deletion	MTERF,frameshift_variant,p.Leu332GlnfsTer3,ENST00000419292,;MTERF,frameshift_variant,p.Leu352GlnfsTer3,ENST00000351870,;MTERF,frameshift_variant,p.Leu332GlnfsTer3,ENST00000406735,;MTERF,downstream_gene_variant,,ENST00000456229,;MTERF,downstream_gene_variant,,ENST00000425936,;MTERF,downstream_gene_variant,,ENST00000442961,;MTERF,intron_variant,,ENST00000454222,;MTERF,downstream_gene_variant,,ENST00000481516,;	1149-1155	65	72	SUCCESS
COL14A1	7373	.	GRCh37	8	121381587	121381587	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484515277	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	20	0	ENST00000297848.3:c.5174G>A	p.Arg1725Gln	p.R1725Q	ENST00000297848	NM_021110.2	1725	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS34938.1	5174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCGGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992	.	.	ENSP00000297848	.	47/48	.	.	.	.	.	.	.	.	COSM202622	47/48	PASS	ENST00000297848	Transcript	1	.	ENSG00000187955	2191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.801)	.	tolerated(0.05)	1	COEA1_HUMAN	COL14A1	HGNC	.	.	UPI000046D377	SNV	COL14A1,missense_variant,p.Arg1725Gln,ENST00000309791,;COL14A1,missense_variant,p.Arg1630Gln,ENST00000247781,;COL14A1,missense_variant,p.Arg1725Gln,ENST00000297848,;COL14A1,missense_variant,p.Arg72Gln,ENST00000440844,;	5444	20	38	SUCCESS
TTPA	7274	.	GRCh37	8	63973814	63973814	+	synonymous_variant	Silent	SNP	T	T	C	rs771412860	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	29	0	ENST00000260116.4:c.834A>G	p.Gln278=	p.Q278=	ENST00000260116	NM_000370.3	278	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS6178.1	834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCATTGAAT	NONE	.	.	.	.	.	ENSP00000260116	.	5/5	.	.	.	.	.	.	.	.	rs771412860	5/5	PASS	ENST00000260116	Transcript	1	.	ENSG00000137561	12404	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTPA_HUMAN	TTPA	HGNC	.	.	UPI00001377AC	SNV	TTPA,synonymous_variant,p.%3D,ENST00000260116,;TTPA,intron_variant,,ENST00000521138,;	866	29	40	SUCCESS
RMDN1	51115	.	GRCh37	8	87520767	87520767	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs781028658	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	18	0	ENST00000406452.3:c.83C>A	p.Ser28Ter	p.S28*	ENST00000406452	NM_016033.2	28	tCg/tAg	0	.	.	.	.	.	T	S/*	protein_coding	YES	CCDS34918.1	83	MUTECT|MUSE	.	TGCCCGAAGTC	NONE	byFrequency	.	hmmpanther:PTHR16056	.	.	ENSP00000385927	.	1/10	.	.	.	.	.	.	.	.	rs781028658	1/10	PASS	ENST00000406452	Transcript	.	.	ENSG00000176623	24285	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RMD1_HUMAN	RMDN1	HGNC	E5RGC8_HUMAN	.	UPI0000073168	SNV	RMDN1,stop_gained,p.Ser28Ter,ENST00000519966,;RMDN1,stop_gained,p.Ser28Ter,ENST00000406452,;RMDN1,stop_gained,p.Ser28Ter,ENST00000430676,;CPNE3,intron_variant,,ENST00000198765,;RMDN1,intron_variant,,ENST00000523911,;RMDN1,upstream_gene_variant,,ENST00000521045,;RMDN1,upstream_gene_variant,,ENST00000519789,;RMDN1,non_coding_transcript_exon_variant,,ENST00000518772,;RMDN1,stop_gained,p.Ser28Ter,ENST00000522804,;RMDN1,intron_variant,,ENST00000523370,;RMDN1,upstream_gene_variant,,ENST00000524172,;SLC2A3P4,downstream_gene_variant,,ENST00000521259,;	243	18	9	SUCCESS
ZNF280C	55609	.	GRCh37	X	129349844	129349844	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	84	143	0	ENST00000370978.4:c.1759T>A	p.Ser587Thr	p.S587T	ENST00000370978	NM_017666.4	587	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS14622.1	1759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGACTTAG	NONE	.	.	hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	.	.	ENSP00000360017	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000370978	Transcript	.	.	ENSG00000056277	25955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.41)	.	Z280C_HUMAN	ZNF280C	HGNC	.	.	UPI0000071981	SNV	ZNF280C,missense_variant,p.Ser587Thr,ENST00000370978,;ZNF280C,missense_variant,p.Ser538Thr,ENST00000447817,;	1913	143	209	SUCCESS
CCNB3	85417	.	GRCh37	X	50090667	50090667	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	142	19	118	0	ENST00000276014.7:c.3853A>G	p.Ile1285Val	p.I1285V	ENST00000276014	NM_033031.2	1285	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS14331.1	3853	RADIA|MUTECT|MUSE|VARSCANS	.	GCTACATCTGC	NONE	.	.	Superfamily_domains:SSF47954,SMART_domains:SM00385,Gene3D:1.10.472.10,Pfam_domain:PF02984,hmmpanther:PTHR10177:SF22,hmmpanther:PTHR10177	.	.	ENSP00000365210	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000376042	Transcript	.	.	ENSG00000147082	18709	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.627)	.	deleterious(0)	.	CCNB3_HUMAN	CCNB3	HGNC	Q8WTR6_HUMAN	.	UPI000022DC76	SNV	CCNB3,missense_variant,p.Ile181Val,ENST00000348603,;CCNB3,missense_variant,p.Ile181Val,ENST00000376038,;CCNB3,missense_variant,p.Ile1285Val,ENST00000376042,;CCNB3,missense_variant,p.Ile1285Val,ENST00000276014,;CCNB3,3_prime_UTR_variant,,ENST00000476167,;CCNB3,non_coding_transcript_exon_variant,,ENST00000487204,;	4151	118	162	SUCCESS
PNLIP	5406	.	GRCh37	10	118314762	118314762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	46	114	0	ENST00000369221.2:c.644T>C	p.Phe215Ser	p.F215S	ENST00000369221	NM_000936.2	215	tTt/tCt	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS7594.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATTTGTGG	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF82,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000358223	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000369221	Transcript	1	.	ENSG00000175535	9155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	LIPP_HUMAN	PNLIP	HGNC	.	.	UPI000004F1A0	SNV	PNLIP,missense_variant,p.Phe215Ser,ENST00000369221,;PNLIP,downstream_gene_variant,,ENST00000470562,;	672	114	66	SUCCESS
CUL2	8453	.	GRCh37	10	35333758	35333758	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1564718050	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	124	98	0	ENST00000374748.1:c.545A>G	p.His182Arg	p.H182R	ENST00000374748		182	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS55709.1	602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCATGGATT	NONE	.	.	hmmpanther:PTHR11932:SF23,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788	.	.	ENSP00000444856	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000537177	Transcript	.	.	ENSG00000108094	2552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.81)	.	CUL2_HUMAN	CUL2	HGNC	Q5T2B4_HUMAN	.	UPI0000EE4467	SNV	CUL2,missense_variant,p.His182Arg,ENST00000421317,;CUL2,missense_variant,p.His182Arg,ENST00000374748,;CUL2,missense_variant,p.His201Arg,ENST00000537177,;CUL2,missense_variant,p.His182Arg,ENST00000374751,;CUL2,missense_variant,p.His182Arg,ENST00000374742,;CUL2,missense_variant,p.His125Arg,ENST00000602371,;CUL2,missense_variant,p.His182Arg,ENST00000374746,;CUL2,missense_variant,p.His182Arg,ENST00000374749,;CUL2,3_prime_UTR_variant,,ENST00000374754,;	664	98	185	SUCCESS
PTEN	5728	.	GRCh37	10	89720726	89720726	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	67	122	0	ENST00000371953.3:c.878del	p.Gly293GlufsTer14	p.G293Efs*14	ENST00000371953	NM_000314.4	293	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS31238.1	877	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAAATGGAAGT	CODON|p.0?|c.1_1212del1212|28,BUFFER|p.V290fs*1|c.867delA|6,BUFFER|p.E291K|c.871G>A|3,BUFFER|p.E291*|c.871G>T|3,BUFFER|p.G293G|c.879A>G|3	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	.	.	ENSP00000361021	.	8/9	.	.	.	.	.	.	.	.	COSM5303,COSM1349604	8/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	deletion	PTEN,frameshift_variant,p.Gly293GlufsTer14,ENST00000371953,;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	2234	122	156	SUCCESS
BTAF1	9044	.	GRCh37	10	93742473	93742473	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	44	81	0	ENST00000265990.6:c.2178G>T	p.Arg726Ser	p.R726S	ENST00000265990	NM_003972.2	726	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7419.1	2178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGATTAG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF12054,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	.	.	ENSP00000265990	.	18/38	.	.	.	.	.	.	.	.	.	18/38	PASS	ENST00000265990	Transcript	.	.	ENSG00000095564	17307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	BTAF1_HUMAN	BTAF1	HGNC	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN	.	UPI0000136782	SNV	BTAF1,missense_variant,p.Arg726Ser,ENST00000265990,;BTAF1,non_coding_transcript_exon_variant,,ENST00000471217,;BTAF1,downstream_gene_variant,,ENST00000476401,;	2486	81	63	SUCCESS
PGR	5241	.	GRCh37	11	100998998	100998998	+	synonymous_variant	Silent	SNP	G	G	C	rs186653307	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	22	0	ENST00000325455.5:c.804C>G	p.Val268=	p.V268=	ENST00000325455	NM_001202474.3	268	gtC/gtG	0	.	C:0	.	C:0.0014	.	C	V	protein_coding	YES	CCDS8310.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGACCAG	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24084:SF7,hmmpanther:PTHR24084,Pfam_domain:PF02161	C:0	.	ENSP00000325120	C:0	1/8	.	.	.	.	.	.	.	.	rs186653307	1/8	PASS	ENST00000325455	Transcript	.	C:0.0002	ENSG00000082175	8910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	PRGR_HUMAN	PGR	HGNC	Q6TZ07_HUMAN	.	UPI0000046E22	SNV	PGR,synonymous_variant,p.%3D,ENST00000263463,;PGR,synonymous_variant,p.%3D,ENST00000325455,;PGR,intron_variant,,ENST00000534013,;PGR,synonymous_variant,p.%3D,ENST00000534780,;PGR,synonymous_variant,p.%3D,ENST00000528960,;PGR,synonymous_variant,p.%3D,ENST00000526300,;	2258	22	15	SUCCESS
EI24	9538	.	GRCh37	11	125451109	125451109	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	90	0	ENST00000278903.6:c.676A>T	p.Ile226Phe	p.I226F	ENST00000278903	NM_004879.3	226	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	.	676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGAATTGAA	NONE	.	.	hmmpanther:PTHR21389:SF0,hmmpanther:PTHR21389,Pfam_domain:PF07264	.	.	ENSP00000278903	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000278903	Transcript	.	.	ENSG00000149547	13276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	tolerated(0.11)	.	EI24_HUMAN	EI24	HGNC	E9PM05_HUMAN,E9PL33_HUMAN	.	UPI00015E00C2	SNV	EI24,missense_variant,p.Ile226Phe,ENST00000278903,;EI24,intron_variant,,ENST00000343678,;EI24,downstream_gene_variant,,ENST00000527520,;EI24,downstream_gene_variant,,ENST00000527131,;EI24,downstream_gene_variant,,ENST00000524723,;EI24,downstream_gene_variant,,ENST00000527842,;STT3A-AS1,intron_variant,,ENST00000530526,;STT3A-AS1,intron_variant,,ENST00000532714,;EI24,splice_region_variant,,ENST00000527675,;EI24,splice_region_variant,,ENST00000531350,;EI24,splice_region_variant,,ENST00000534430,;EI24,splice_region_variant,,ENST00000530985,;EI24,splice_region_variant,,ENST00000527628,;EI24,intron_variant,,ENST00000535422,;EI24,downstream_gene_variant,,ENST00000531636,;EI24,splice_region_variant,,ENST00000525737,;EI24,non_coding_transcript_exon_variant,,ENST00000530540,;EI24,downstream_gene_variant,,ENST00000529765,;EI24,downstream_gene_variant,,ENST00000527235,;EI24,downstream_gene_variant,,ENST00000534546,;	918	90	99	SUCCESS
INTS5	80789	.	GRCh37	11	62415200	62415200	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	55	82	0	ENST00000330574.2:c.2352T>A	p.Val784=	p.V784=	ENST00000330574	NM_030628.1	784	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS8027.1	2352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGAACCAG	NONE	.	.	Pfam_domain:PF14838,hmmpanther:PTHR31697,hmmpanther:PTHR31697:SF2	.	.	ENSP00000327889	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330574	Transcript	.	.	ENSG00000185085	29352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT5_HUMAN	INTS5	HGNC	.	.	UPI0000161948	SNV	INTS5,synonymous_variant,p.%3D,ENST00000330574,;GANAB,upstream_gene_variant,,ENST00000525994,;GANAB,upstream_gene_variant,,ENST00000356638,;GANAB,upstream_gene_variant,,ENST00000534779,;RP11-831H9.11,downstream_gene_variant,,ENST00000528405,;GANAB,upstream_gene_variant,,ENST00000540933,;GANAB,upstream_gene_variant,,ENST00000346178,;GANAB,upstream_gene_variant,,ENST00000534419,;GANAB,upstream_gene_variant,,ENST00000529737,;GANAB,upstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000526210,;GANAB,upstream_gene_variant,,ENST00000526392,;	2405	82	127	SUCCESS
DNHD1	144132	.	GRCh37	11	6565467	6565467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	62	0	ENST00000254579.6:c.3745C>A	p.His1249Asn	p.H1249N	ENST00000254579	NM_144666.2	1249	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS44532.1	3745	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCATGCATGGC	NONE	.	.	hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000254579	.	19/43	.	.	.	.	.	.	.	.	.	19/43	PASS	ENST00000254579	Transcript	.	.	ENSG00000179532	26532	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	.	.	DNHD1_HUMAN	DNHD1	HGNC	.	.	UPI0001929529	SNV	DNHD1,missense_variant,p.His1249Asn,ENST00000527990,;DNHD1,missense_variant,p.His1249Asn,ENST00000254579,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000533649,;	4309	62	55	SUCCESS
PELI3	246330	.	GRCh37	11	66243202	66243202	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	58	0	ENST00000320740.7:c.974C>A	p.Ala325Glu	p.A325E	ENST00000320740	NM_145065.2	325	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS31615.1	974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCAAATG	NONE	.	.	hmmpanther:PTHR12098,hmmpanther:PTHR12098:SF6,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886	.	.	ENSP00000322532	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000320740	Transcript	.	.	ENSG00000174516	30010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	deleterious(0)	.	PELI3_HUMAN	PELI3	HGNC	H0YEM6_HUMAN,E9PQX6_HUMAN,E9PI91_HUMAN	.	UPI00000707EF	SNV	PELI3,missense_variant,p.Ala218Glu,ENST00000526296,;PELI3,missense_variant,p.Ala301Glu,ENST00000349459,;PELI3,missense_variant,p.Ala325Glu,ENST00000320740,;PELI3,3_prime_UTR_variant,,ENST00000528752,;DPP3,upstream_gene_variant,,ENST00000360510,;DPP3,upstream_gene_variant,,ENST00000532677,;DPP3,upstream_gene_variant,,ENST00000526515,;DPP3,upstream_gene_variant,,ENST00000453114,;DPP3,upstream_gene_variant,,ENST00000531863,;DPP3,upstream_gene_variant,,ENST00000533725,;DPP3,upstream_gene_variant,,ENST00000532019,;DPP3,upstream_gene_variant,,ENST00000530165,;PELI3,downstream_gene_variant,,ENST00000524466,;DPP3,upstream_gene_variant,,ENST00000541961,;PELI3,downstream_gene_variant,,ENST00000527230,;CTD-3074O7.5,intron_variant,,ENST00000527092,;CTD-3074O7.5,intron_variant,,ENST00000533502,;CTD-3074O7.5,downstream_gene_variant,,ENST00000527274,;CTD-3074O7.5,upstream_gene_variant,,ENST00000602951,;CTD-3074O7.5,downstream_gene_variant,,ENST00000525142,;PELI3,intron_variant,,ENST00000531856,;DPP3,upstream_gene_variant,,ENST00000544603,;DPP3,upstream_gene_variant,,ENST00000531272,;PELI3,3_prime_UTR_variant,,ENST00000532970,;	1134	58	89	SUCCESS
CLCF1	23529	.	GRCh37	11	67135026	67135026	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs76168219	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	71	0	ENST00000312438.7:c.88C>A	p.Arg30Ser	p.R30S	ENST00000312438	NM_013246.2	30	Cgc/Agc	0	A:0.008	A:0.003	.	A:0.0014	.	T	R/S	protein_coding	YES	CCDS31617.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCGATTGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21353:SF7,hmmpanther:PTHR21353,Gene3D:1.20.1250.10	A:0	A:0.0001	ENSP00000309338	A:0.001	2/3	.	.	.	.	.	.	.	.	rs76168219	2/3	PASS	ENST00000312438	Transcript	.	A:0.0012	ENSG00000175505	17412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	A:0	tolerated(0.78)	.	CLCF1_HUMAN	CLCF1	HGNC	.	.	UPI000003F7F1	SNV	CLCF1,missense_variant,p.Arg30Ser,ENST00000312438,;CLCF1,missense_variant,p.Arg20Ser,ENST00000528474,;CLCF1,missense_variant,p.Arg20Ser,ENST00000533438,;RN7SKP239,downstream_gene_variant,,ENST00000364814,;AP003419.11,intron_variant,,ENST00000543494,;	286	71	72	SUCCESS
GPR152	390212	.	GRCh37	11	67219232	67219232	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	51	0	ENST00000312457.2:c.964C>G	p.Pro322Ala	p.P322A	ENST00000312457	NM_206997.1	322	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS8165.1	964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGCCGCT	NONE	.	.	hmmpanther:PTHR11334:SF1,hmmpanther:PTHR11334,Superfamily_domains:SSF81321	.	.	ENSP00000310255	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312457	Transcript	.	.	ENSG00000175514	23622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	tolerated(0.08)	.	GP152_HUMAN	GPR152	HGNC	.	.	UPI000003B364	SNV	GPR152,missense_variant,p.Pro322Ala,ENST00000312457,;CABP4,upstream_gene_variant,,ENST00000325656,;CABP4,upstream_gene_variant,,ENST00000438189,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,upstream_gene_variant,,ENST00000542025,;CABP4,upstream_gene_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000545777,;CABP4,upstream_gene_variant,,ENST00000545040,;	969	51	55	SUCCESS
IGHMBP2	3508	.	GRCh37	11	68701272	68701272	+	synonymous_variant	Silent	SNP	A	A	T	rs758501779	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	35	69	0	ENST00000255078.3:c.1428A>T	p.Pro476=	p.P476=	ENST00000255078	NM_002180.2	476	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8187.1	1428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCAGGTGT	NONE	byFrequency	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF140,Pfam_domain:PF13087,TIGRFAM_domain:TIGR00376,Superfamily_domains:SSF52540	.	.	ENSP00000255078	.	10/15	.	.	.	.	.	.	.	.	rs758501779	10/15	PASS	ENST00000255078	Transcript	.	.	ENSG00000132740	5542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMBP2_HUMAN	IGHMBP2	HGNC	F5H5K3_HUMAN	.	UPI000013CE82	SNV	IGHMBP2,synonymous_variant,p.%3D,ENST00000255078,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000541229,;IGHMBP2,downstream_gene_variant,,ENST00000536803,;IGHMBP2,downstream_gene_variant,,ENST00000568742,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000539064,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000537458,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000543739,;IGHMBP2,upstream_gene_variant,,ENST00000544521,;IGHMBP2,upstream_gene_variant,,ENST00000545475,;	1539	69	61	SUCCESS
CCDC63	160762	.	GRCh37	12	111336787	111336787	+	synonymous_variant	Silent	SNP	C	C	T	rs141258896	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	34	63	0	ENST00000308208.5:c.1200C>T	p.Tyr400=	p.Y400=	ENST00000308208	NM_152591.1	400	taC/taT	0	T:0.0005	T:0.0008	.	T:0	.	T	Y	protein_coding	YES	CCDS9151.1	1200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACGGGGA	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694:SF20,hmmpanther:PTHR21694	T:0	T:0	ENSP00000312399	T:0	10/12	.	.	.	.	.	.	.	.	rs141258896	10/12	PASS	ENST00000308208	Transcript	.	T:0.0002	ENSG00000173093	26669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CCD63_HUMAN	CCDC63	HGNC	G3V217_HUMAN,B4DY03_HUMAN	.	UPI000006F794	SNV	CCDC63,synonymous_variant,p.%3D,ENST00000308208,;CCDC63,synonymous_variant,p.%3D,ENST00000552694,;CCDC63,synonymous_variant,p.%3D,ENST00000545036,;	1442	63	69	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1902886	1902886	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs775096534	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	96	0	ENST00000382722.5:c.3349G>C	p.Ala1117Pro	p.A1117P	ENST00000382722	NM_172364.4	1117	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS44785.1	3349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCTGAGG	NONE	.	.	hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166	.	.	ENSP00000372169	.	38/38	.	.	.	.	.	.	.	.	rs775096534	38/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.49)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Ala1092Pro,ENST00000587995,;CACNA2D4,missense_variant,p.Ala262Pro,ENST00000538027,;CACNA2D4,missense_variant,p.Ala1117Pro,ENST00000382722,;CACNA2D4,missense_variant,p.Ala1053Pro,ENST00000588077,;CACNA2D4,missense_variant,p.Ala264Pro,ENST00000536846,;CACNA2D4,missense_variant,p.Ala247Pro,ENST00000538450,;CACNA2D4,downstream_gene_variant,,ENST00000586184,;CACNA2D4,downstream_gene_variant,,ENST00000585708,;CACNA2D4,3_prime_UTR_variant,,ENST00000585385,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,3_prime_UTR_variant,,ENST00000545595,;CACNA2D4,3_prime_UTR_variant,,ENST00000537784,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000541444,;CACNA2D4,downstream_gene_variant,,ENST00000588896,;CACNA2D4,downstream_gene_variant,,ENST00000536818,;CACNA2D4,downstream_gene_variant,,ENST00000543405,;CACNA2D4,downstream_gene_variant,,ENST00000537923,;	3712	96	129	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43828114	43828114	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	64	137	0	ENST00000389420.3:c.2654A>C	p.Lys885Thr	p.K885T	ENST00000389420	NM_025003.3	885	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS31778.2	2654	RADIA|MUTECT|MUSE	.	ATTCTTTATCA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000374071	.	19/39	.	.	.	.	.	.	.	.	.	19/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.023)	.	deleterious(0)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Lys885Thr,ENST00000553158,;ADAMTS20,missense_variant,p.Lys885Thr,ENST00000389420,;ADAMTS20,missense_variant,p.Lys51Thr,ENST00000549670,;ADAMTS20,missense_variant,p.Lys39Thr,ENST00000395541,;	2654	137	136	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43828156	43828156	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	49	112	0	ENST00000389420.3:c.2612T>C	p.Ile871Thr	p.I871T	ENST00000389420	NM_025003.3	871	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31778.2	2612	RADIA|MUTECT|MUSE	.	AAGTTATGTTT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000374071	.	19/39	.	.	.	.	.	.	.	.	.	19/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.268)	.	tolerated(0.19)	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,missense_variant,p.Ile871Thr,ENST00000553158,;ADAMTS20,missense_variant,p.Ile871Thr,ENST00000389420,;ADAMTS20,missense_variant,p.Ile37Thr,ENST00000549670,;ADAMTS20,missense_variant,p.Ile25Thr,ENST00000395541,;	2612	112	113	SUCCESS
GRIP1	23426	.	GRCh37	12	66838427	66838427	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	59	175	0	ENST00000359742.4:c.1624C>T	p.Gln542Ter	p.Q542*	ENST00000359742		542	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS41807.1	1468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTGACTGG	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000381098	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,stop_gained,p.Gln490Ter,ENST00000538211,;GRIP1,stop_gained,p.Gln357Ter,ENST00000538164,;GRIP1,stop_gained,p.Gln542Ter,ENST00000286445,;GRIP1,stop_gained,p.Gln382Ter,ENST00000536215,;GRIP1,stop_gained,p.Gln490Ter,ENST00000398016,;GRIP1,stop_gained,p.Gln542Ter,ENST00000359742,;GRIP1,stop_gained,p.Gln434Ter,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000543172,;GRIP1,downstream_gene_variant,,ENST00000535002,;	1537	175	168	SUCCESS
C1RL	51279	.	GRCh37	12	7249108	7249108	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	79	0	ENST00000266542.4:c.1343A>G	p.His448Arg	p.H448R	ENST00000266542	NM_016546.2	448	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS8573.1	1343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATGGGCA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF26,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000266542	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000266542	Transcript	.	.	ENSG00000139178	21265	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.26)	.	C1RL_HUMAN	C1RL	HGNC	.	.	UPI0000EE67FA	SNV	C1RL,missense_variant,p.His448Arg,ENST00000266542,;C1RL,3_prime_UTR_variant,,ENST00000544702,;C1RL,intron_variant,,ENST00000545280,;C1RL,downstream_gene_variant,,ENST00000534950,;C1RL,downstream_gene_variant,,ENST00000543933,;C1R,upstream_gene_variant,,ENST00000540242,;C1R,upstream_gene_variant,,ENST00000540610,;C1R,upstream_gene_variant,,ENST00000536053,;C1R,upstream_gene_variant,,ENST00000538050,;C1R,upstream_gene_variant,,ENST00000542285,;C1R,upstream_gene_variant,,ENST00000542220,;C1R,upstream_gene_variant,,ENST00000543835,;C1R,upstream_gene_variant,,ENST00000541042,;C1R,upstream_gene_variant,,ENST00000535233,;C1RL,intron_variant,,ENST00000504702,;C1RL,intron_variant,,ENST00000539803,;C1R,upstream_gene_variant,,ENST00000536092,;C1RL,downstream_gene_variant,,ENST00000537833,;C1R,upstream_gene_variant,,ENST00000545466,;C1R,upstream_gene_variant,,ENST00000540394,;C1RL,downstream_gene_variant,,ENST00000534969,;C1R,upstream_gene_variant,,ENST00000543362,;	1436	79	84	SUCCESS
AICDA	57379	.	GRCh37	12	8759531	8759531	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	43	0	ENST00000229335.6:c.86T>G	p.Leu29Arg	p.L29R	ENST00000229335	NM_020661.2	29	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS41747.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGGTAG	NONE	.	.	hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF10,Pfam_domain:PF08210	.	.	ENSP00000229335	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000229335	Transcript	.	.	ENSG00000111732	13203	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	AICDA_HUMAN	AICDA	HGNC	Q7Z599_HUMAN,Q5XM85_HUMAN,Q546Y9_HUMAN,A3QRX5_HUMAN	.	UPI000000171E	SNV	AICDA,missense_variant,p.Leu29Arg,ENST00000537228,;AICDA,missense_variant,p.Leu28Arg,ENST00000543081,;AICDA,missense_variant,p.Leu28Arg,ENST00000545512,;AICDA,missense_variant,p.Leu29Arg,ENST00000229335,;AICDA,missense_variant,p.Leu28Arg,ENST00000544516,;AICDA,non_coding_transcript_exon_variant,,ENST00000545576,;	190	43	71	SUCCESS
UGGT2	55757	.	GRCh37	13	96579585	96579585	+	synonymous_variant	Silent	SNP	T	T	C	rs773423460	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	80	125	0	ENST00000376747.3:c.1983A>G	p.Thr661=	p.T661=	ENST00000376747	NM_020121.3	661	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS9480.1	1983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATGTGCC	NONE	.	.	hmmpanther:PTHR11226:SF1,hmmpanther:PTHR11226	.	.	ENSP00000365938	.	18/39	.	.	.	.	.	.	.	.	rs773423460	18/39	PASS	ENST00000376747	Transcript	.	.	ENSG00000102595	15664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UGGG2_HUMAN	UGGT2	HGNC	.	.	UPI00001FC9AA	SNV	UGGT2,synonymous_variant,p.%3D,ENST00000376747,;	2054	125	186	SUCCESS
RABGGTA	5875	.	GRCh37	14	24734864	24734864	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	43	0	ENST00000216840.6:c.1661A>T	p.Gln554Leu	p.Q554L	ENST00000216840	NM_182836.2	554	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45088.1	1661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTGCTCC	NONE	.	.	PROSITE_profiles:PS51450,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000382341	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000399409	Transcript	.	.	ENSG00000100949	9795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.13)	.	PGTA_HUMAN	RABGGTA	HGNC	H0YLG7_HUMAN,D3DS70_HUMAN	.	UPI000013188E	SNV	RABGGTA,missense_variant,p.Gln554Leu,ENST00000216840,;RABGGTA,missense_variant,p.Gln163Leu,ENST00000560777,;RABGGTA,missense_variant,p.Gln554Leu,ENST00000399409,;RABGGTA,3_prime_UTR_variant,,ENST00000560521,;TGM1,upstream_gene_variant,,ENST00000560226,;TGM1,upstream_gene_variant,,ENST00000558074,;TGM1,upstream_gene_variant,,ENST00000544573,;TGM1,upstream_gene_variant,,ENST00000206765,;TGM1,upstream_gene_variant,,ENST00000560443,;TGM1,upstream_gene_variant,,ENST00000560478,;TGM1,upstream_gene_variant,,ENST00000561067,;RABGGTA,downstream_gene_variant,,ENST00000558954,;RABGGTA,downstream_gene_variant,,ENST00000558534,;RABGGTA,downstream_gene_variant,,ENST00000560163,;RABGGTA,downstream_gene_variant,,ENST00000560871,;RABGGTA,downstream_gene_variant,,ENST00000559586,;RABGGTA,3_prime_UTR_variant,,ENST00000559974,;RABGGTA,3_prime_UTR_variant,,ENST00000560243,;RABGGTA,3_prime_UTR_variant,,ENST00000558376,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560998,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559551,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000561055,;RABGGTA,downstream_gene_variant,,ENST00000560207,;RABGGTA,downstream_gene_variant,,ENST00000558936,;RABGGTA,downstream_gene_variant,,ENST00000558649,;RABGGTA,downstream_gene_variant,,ENST00000543002,;RABGGTA,downstream_gene_variant,,ENST00000559850,;RABGGTA,downstream_gene_variant,,ENST00000560127,;	2145	43	45	SUCCESS
DCAF5	8816	.	GRCh37	14	69520835	69520835	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	69	0	ENST00000341516.5:c.2568G>A	p.Val856=	p.V856=	ENST00000341516	NM_003861.2	856	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32106.1	2568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCACCTC	NONE	.	.	.	.	.	ENSP00000341351	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341516	Transcript	.	.	ENSG00000139990	20224	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCAF5_HUMAN	DCAF5	HGNC	Q8NCX5_HUMAN	.	UPI00001C1F66	SNV	DCAF5,synonymous_variant,p.%3D,ENST00000554215,;DCAF5,synonymous_variant,p.%3D,ENST00000557386,;DCAF5,synonymous_variant,p.%3D,ENST00000341516,;DCAF5,synonymous_variant,p.%3D,ENST00000556847,;DCAF5,downstream_gene_variant,,ENST00000553293,;	2716	69	89	SUCCESS
PSEN1	5663	.	GRCh37	14	73640582	73640582	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	40	0	ENST00000324501.5:c.480+167A>C		p.*160*	ENST00000324501	NM_000021.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9812.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAAAAAGG	NONE	.	.	.	.	.	ENSP00000326366	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324501	Transcript	.	.	ENSG00000080815	9508	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSN1_HUMAN	PSEN1	HGNC	G3V4P4_HUMAN,G3V4M0_HUMAN,G3V2G7_HUMAN,E7ES96_HUMAN	.	UPI000003F05F	SNV	PSEN1,3_prime_UTR_variant,,ENST00000394157,;PSEN1,intron_variant,,ENST00000394164,;PSEN1,intron_variant,,ENST00000406768,;PSEN1,intron_variant,,ENST00000344094,;PSEN1,intron_variant,,ENST00000557511,;PSEN1,intron_variant,,ENST00000324501,;PSEN1,intron_variant,,ENST00000261970,;PSEN1,intron_variant,,ENST00000357710,;PSEN1,downstream_gene_variant,,ENST00000556066,;PSEN1,downstream_gene_variant,,ENST00000553599,;PSEN1,downstream_gene_variant,,ENST00000556533,;PSEN1,downstream_gene_variant,,ENST00000556951,;PSEN1,downstream_gene_variant,,ENST00000555254,;PSEN1,downstream_gene_variant,,ENST00000557356,;PSEN1,downstream_gene_variant,,ENST00000553719,;PSEN1,downstream_gene_variant,,ENST00000560005,;PSEN1,downstream_gene_variant,,ENST00000554131,;PSEN1,downstream_gene_variant,,ENST00000557293,;PSEN1,downstream_gene_variant,,ENST00000557037,;PSEN1,downstream_gene_variant,,ENST00000556864,;PSEN1,downstream_gene_variant,,ENST00000553447,;PSEN1,intron_variant,,ENST00000553855,;PSEN1,intron_variant,,ENST00000555386,;PSEN1,downstream_gene_variant,,ENST00000559361,;	.	40	39	SUCCESS
CHGA	1113	.	GRCh37	14	93397788	93397788	+	synonymous_variant	Silent	SNP	C	C	G	rs758599091	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	10	31	0	ENST00000216492.5:c.549C>G	p.Thr183=	p.T183=	ENST00000216492	NM_001275.3	183	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS9906.1	549	RADIA|MUTECT|MUSE	.	AACACCCACCC	NONE	.	.	Pfam_domain:PF01271,hmmpanther:PTHR10583	.	.	ENSP00000216492	.	6/8	.	.	.	.	.	.	.	.	rs758599091	6/8	PASS	ENST00000216492	Transcript	.	.	ENSG00000100604	1929	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CMGA_HUMAN	CHGA	HGNC	.	.	UPI000013C6F3	SNV	CHGA,synonymous_variant,p.%3D,ENST00000216492,;CHGA,intron_variant,,ENST00000334654,;CHGA,non_coding_transcript_exon_variant,,ENST00000553866,;CHGA,3_prime_UTR_variant,,ENST00000556076,;CHGA,upstream_gene_variant,,ENST00000556876,;CHGA,downstream_gene_variant,,ENST00000556098,;	829	31	12	SUCCESS
MYO1E	4643	.	GRCh37	15	59500993	59500993	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779664009	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	72	0	ENST00000288235.4:c.1417G>T	p.Val473Leu	p.V473L	ENST00000288235	NM_004998.3	473	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS32254.1	1417	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCACCGCAT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000288235	.	14/28	.	.	.	.	.	.	.	.	rs779664009	14/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.329)	.	tolerated(0.33)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Val473Leu,ENST00000288235,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,downstream_gene_variant,,ENST00000559489,;MYO1E,upstream_gene_variant,,ENST00000560749,;LDHAL6B,downstream_gene_variant,,ENST00000307144,;RNU4-80P,downstream_gene_variant,,ENST00000363200,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,non_coding_transcript_exon_variant,,ENST00000560642,;	1817	72	91	SUCCESS
HERC1	8925	.	GRCh37	15	63978599	63978599	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	64	128	0	ENST00000443617.2:c.6184T>C	p.Leu2062=	p.L2062=	ENST00000443617	NM_003922.3	2062	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS45277.1	6184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAATCCAT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Superfamily_domains:SSF49899	.	.	ENSP00000390158	.	34/78	.	.	.	.	.	.	.	.	.	34/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,synonymous_variant,p.%3D,ENST00000443617,;RP11-317G6.1,intron_variant,,ENST00000559303,;	6272	128	115	SUCCESS
SNX33	257364	.	GRCh37	15	75942327	75942327	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757031159	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	64	0	ENST00000308527.5:c.884C>T	p.Thr295Ile	p.T295I	ENST00000308527	NM_153271.1	295	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS10283.1	884	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACTGGCC	NONE	byFrequency	.	Superfamily_domains:SSF64268,PIRSF_domain:PIRSF027744,SMART_domains:SM00312,Gene3D:3.30.1520.10,Pfam_domain:PF00787,hmmpanther:PTHR10555:SF121,hmmpanther:PTHR10555,PROSITE_profiles:PS50195	.	.	ENSP00000311427	.	1/2	.	.	.	.	.	.	.	.	rs757031159	1/2	PASS	ENST00000308527	Transcript	.	.	ENSG00000173548	28468	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SNX33_HUMAN	SNX33	HGNC	.	.	UPI0000073AC2	SNV	SNX33,missense_variant,p.Thr78Ile,ENST00000569152,;SNX33,missense_variant,p.Thr295Ile,ENST00000308527,;IMP3,upstream_gene_variant,,ENST00000314852,;IMP3,upstream_gene_variant,,ENST00000565349,;	2081	64	76	SUCCESS
AC004381.6	0	.	GRCh37	16	20817836	20817836	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	11	0	ENST00000261377.6:c.-194C>A		p.*65*	ENST00000261377	NM_030941.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10591.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGCTGAGG	NONE	.	.	.	.	.	ENSP00000261377	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000261377	Transcript	.	.	ENSG00000005189	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REXON_HUMAN	AC004381.6	Clone_based_vega_gene	H3BV93_HUMAN,H3BUT7_HUMAN,H3BSE4_HUMAN,H3BSC5_HUMAN,H3BR13_HUMAN,H3BQ98_HUMAN,H3BPB2_HUMAN,H3BM72_HUMAN	.	UPI0000073454	SNV	AC004381.6,5_prime_UTR_variant,,ENST00000568046,;ERI2,5_prime_UTR_variant,,ENST00000563117,;AC004381.6,5_prime_UTR_variant,,ENST00000261377,;ERI2,intron_variant,,ENST00000564349,;AC004381.6,intron_variant,,ENST00000568894,;AC004381.6,upstream_gene_variant,,ENST00000568647,;AC004381.6,upstream_gene_variant,,ENST00000564274,;ERI2,upstream_gene_variant,,ENST00000569729,;AC004381.6,upstream_gene_variant,,ENST00000563068,;AC004381.6,upstream_gene_variant,,ENST00000566276,;AC004381.6,upstream_gene_variant,,ENST00000568501,;ERI2,upstream_gene_variant,,ENST00000389345,;AC004381.6,upstream_gene_variant,,ENST00000565340,;ERI2,upstream_gene_variant,,ENST00000357967,;AC004381.6,upstream_gene_variant,,ENST00000563617,;ERI2,upstream_gene_variant,,ENST00000300005,;AC004381.6,upstream_gene_variant,,ENST00000348433,;ERI2,upstream_gene_variant,,ENST00000568251,;ERI2,upstream_gene_variant,,ENST00000563537,;ERI2,upstream_gene_variant,,ENST00000565884,;AC004381.6,upstream_gene_variant,,ENST00000568476,;ERI2,upstream_gene_variant,,ENST00000566223,;ERI2,upstream_gene_variant,,ENST00000567562,;ERI2,upstream_gene_variant,,ENST00000562277,;AC004381.6,upstream_gene_variant,,ENST00000567297,;AC004381.6,5_prime_UTR_variant,,ENST00000566993,;ERI2,upstream_gene_variant,,ENST00000568805,;AC004381.6,upstream_gene_variant,,ENST00000566518,;ERI2,upstream_gene_variant,,ENST00000567859,;	16	11	31	SUCCESS
ZG16B	124220	.	GRCh37	16	2880717	2880717	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	21	83	0	ENST00000382280.3:c.183C>T	p.Gly61=	p.G61=	ENST00000382280	NM_145252.2	61	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10479.2	183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCAAGTA	NONE	.	.	Gene3D:2.100.10.30,SMART_domains:SM00915,Superfamily_domains:SSF51101	.	.	ENSP00000371715	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000382280	Transcript	.	.	ENSG00000162078	30456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZG16B_HUMAN	ZG16B	HGNC	G8H6I3_HUMAN,C3PTT6_HUMAN	.	UPI000059D2F8	SNV	ZG16B,synonymous_variant,p.%3D,ENST00000382280,;ZG16B,synonymous_variant,p.%3D,ENST00000571723,;ZG16B,synonymous_variant,p.%3D,ENST00000570670,;ZG16B,synonymous_variant,p.%3D,ENST00000572863,;PRSS21,downstream_gene_variant,,ENST00000575739,;ZG16B,non_coding_transcript_exon_variant,,ENST00000573019,;ZG16B,non_coding_transcript_exon_variant,,ENST00000576423,;	262	83	111	SUCCESS
ITFG3	0	.	GRCh37	16	312457	312457	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	33	0	ENST00000301678.3:c.876C>T	p.Leu292=	p.L292=	ENST00000301678	NM_032039.2	292	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10402.1	876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTCTACGA	NONE	.	.	hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF7	.	.	ENSP00000382814	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000399932	Transcript	.	.	ENSG00000167930	14163	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITFG3_HUMAN	ITFG3	HGNC	C9JR71_HUMAN,C9JJN3_HUMAN,C9J8V3_HUMAN,C9J3Y6_HUMAN,C9J1M4_HUMAN,C9IYB9_HUMAN	.	UPI000006DF0D	SNV	ITFG3,synonymous_variant,p.%3D,ENST00000442458,;ITFG3,synonymous_variant,p.%3D,ENST00000450082,;ITFG3,synonymous_variant,p.%3D,ENST00000301679,;ITFG3,synonymous_variant,p.%3D,ENST00000301678,;ITFG3,synonymous_variant,p.%3D,ENST00000399932,;ITFG3,synonymous_variant,p.%3D,ENST00000600536,;ITFG3,downstream_gene_variant,,ENST00000420046,;ITFG3,downstream_gene_variant,,ENST00000421000,;ITFG3,downstream_gene_variant,,ENST00000453430,;ITFG3,upstream_gene_variant,,ENST00000424016,;ITFG3,downstream_gene_variant,,ENST00000438220,;ITFG3,downstream_gene_variant,,ENST00000449945,;ITFG3,downstream_gene_variant,,ENST00000419173,;ITFG3,downstream_gene_variant,,ENST00000420500,;ITFG3,downstream_gene_variant,,ENST00000496874,;ITFG3,downstream_gene_variant,,ENST00000468354,;	1327	33	65	SUCCESS
B3GNT9	84752	.	GRCh37	16	67184423	67184423	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	13	0	ENST00000449549.3:c.-35C>A		p.*12*	ENST00000449549	NM_033309.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45509.1	.	RADIA|MUTECT|MUSE	.	GTAAGGGTCGC	NONE	.	.	.	.	.	ENSP00000400157	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000449549	Transcript	.	.	ENSG00000237172	28714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3GN9_HUMAN	B3GNT9	HGNC	.	.	UPI000004B630	SNV	B3GNT9,5_prime_UTR_variant,,ENST00000449549,;TRADD,downstream_gene_variant,,ENST00000486556,;TRADD,downstream_gene_variant,,ENST00000345057,;C16orf70,downstream_gene_variant,,ENST00000569277,;C16orf70,downstream_gene_variant,,ENST00000219139,;C16orf70,downstream_gene_variant,,ENST00000569600,;TRADD,downstream_gene_variant,,ENST00000566247,;	502	13	10	SUCCESS
MTSS1L	0	.	GRCh37	16	70698047	70698047	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	18	34	0	ENST00000338779.6:c.1777G>A	p.Val593Met	p.V593M	ENST00000338779	NM_138383.2	593	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS32476.1	1777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACAGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15708:SF8,hmmpanther:PTHR15708	.	.	ENSP00000341171	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000338779	Transcript	.	.	ENSG00000132613	25094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	MTSSL_HUMAN	MTSS1L	HGNC	.	.	UPI00001D627C	SNV	MTSS1L,missense_variant,p.Val593Met,ENST00000338779,;FLJ00418,5_prime_UTR_variant,,ENST00000597002,;IL34,downstream_gene_variant,,ENST00000288098,;IL34,downstream_gene_variant,,ENST00000429149,;IL34,downstream_gene_variant,,ENST00000566361,;	2052	34	26	SUCCESS
AC090774.2	0	.	GRCh37	17	20860010	20860010	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	16	0	ENST00000435925.2:n.16A>T		p.*6*	ENST00000435925				0	.	.	.	.	.	T	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCAGAGTC	NONE	.	.	.	.	.	.	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000582583	Transcript	.	.	ENSG00000264660	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-381P6.1	Clone_based_vega_gene	.	.	.	SNV	RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000579168,;RP11-381P6.1,non_coding_transcript_exon_variant,,ENST00000582583,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000433763,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000437829,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000583481,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000584433,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000580056,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000423473,;RP11-344E13.3,non_coding_transcript_exon_variant,,ENST00000581958,;RP11-344E13.3,intron_variant,,ENST00000439794,;AC090774.2,non_coding_transcript_exon_variant,,ENST00000435925,;	686	16	23	SUCCESS
PSME3	10197	.	GRCh37	17	40985471	40985484	+	5_prime_UTR_variant	5'UTR	DEL	GCAGGCTGCCGGCG	GCAGGCTGCCGGCG	-	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	GCAGGCTGCCGGCG	GCAGGCTGCCGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	10	16	10	0	ENST00000590720.1:c.-177_-164del		p.*59*	ENST00000590720				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11442.1	.	INDELOCATOR|VARSCANI	.	CAGGCAGCAGGCTGCCGGCGGGCGG	NONE	.	4	.	.	.	ENSP00000293362	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293362	Transcript	.	.	ENSG00000131467	9570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSME3_HUMAN	PSME3	HGNC	.	.	UPI000002B1BA	deletion	PSME3,5_prime_UTR_variant,,ENST00000590720,;PSME3,5_prime_UTR_variant,,ENST00000589469,;PSME3,5_prime_UTR_variant,,ENST00000586114,;PSME3,5_prime_UTR_variant,,ENST00000541124,;PSME3,5_prime_UTR_variant,,ENST00000591152,;PSME3,5_prime_UTR_variant,,ENST00000585805,;PSME3,5_prime_UTR_variant,,ENST00000441946,;PSME3,intron_variant,,ENST00000545225,;BECN1,upstream_gene_variant,,ENST00000591404,;PSME3,upstream_gene_variant,,ENST00000293362,;BECN1,upstream_gene_variant,,ENST00000589636,;PSME3,upstream_gene_variant,,ENST00000592169,;PSME3,non_coding_transcript_exon_variant,,ENST00000592578,;PSME3,downstream_gene_variant,,ENST00000592458,;PSME3,5_prime_UTR_variant,,ENST00000543428,;PSME3,non_coding_transcript_exon_variant,,ENST00000591722,;PSME3,upstream_gene_variant,,ENST00000593111,;PSME3,upstream_gene_variant,,ENST00000586312,;	.	10	26	SUCCESS
SLC35B1	10237	.	GRCh37	17	47784394	47784394	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	46	0	ENST00000240333.6:c.141G>A	p.Glu47=	p.E47=	ENST00000240333	NM_005827.2	47	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	.	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGTCTCCTG	NONE	.	.	hmmpanther:PTHR10778:SF10,hmmpanther:PTHR10778,Pfam_domain:PF08449	.	.	ENSP00000240333	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000240333	Transcript	.	.	ENSG00000121073	20798	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35B1_HUMAN	SLC35B1	HGNC	.	.	UPI0000073E10	SNV	SLC35B1,synonymous_variant,p.%3D,ENST00000514907,;SLC35B1,synonymous_variant,p.%3D,ENST00000415270,;SLC35B1,synonymous_variant,p.%3D,ENST00000515850,;SLC35B1,synonymous_variant,p.%3D,ENST00000508520,;SLC35B1,synonymous_variant,p.%3D,ENST00000240333,;SLC35B1,5_prime_UTR_variant,,ENST00000511657,;SLC35B1,5_prime_UTR_variant,,ENST00000503334,;SLC35B1,intron_variant,,ENST00000511763,;FAM117A,downstream_gene_variant,,ENST00000240364,;FAM117A,downstream_gene_variant,,ENST00000513602,;RP11-613C6.2,upstream_gene_variant,,ENST00000512720,;SLC35B1,synonymous_variant,p.%3D,ENST00000502268,;SLC35B1,synonymous_variant,p.%3D,ENST00000507773,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000435059,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000509781,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000504260,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000508607,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000505765,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000502406,;SLC35B1,upstream_gene_variant,,ENST00000508926,;SLC35B1,upstream_gene_variant,,ENST00000507477,;SLC35B1,upstream_gene_variant,,ENST00000508749,;SLC35B1,upstream_gene_variant,,ENST00000513508,;FAM117A,downstream_gene_variant,,ENST00000503573,;	263	46	64	SUCCESS
TP53	7157	.	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs28934571	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	35	67	0	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS11118.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	ATGGGCCTCCG	SITE|p.R249S|c.747G>T|31,SITE|p.R249S|c.747G>T|15,SITE|p.R249S|c.747G>T|314,SITE|p.R249S|c.747G>T|30,CODON|p.0?|c.1_1182del1182|6,CODON|p.R249fs*96|c.746delG|4,CODON|p.R249S|c.747G>C|22,CODON|p.R249S|c.747G>C|3,CODON|p.R249R|c.747G>A|6,CODON|p.R249S|c.747G>C|3,CODON|p.R249T|c.746G>C|3,CODON|p.R249M|c.746G>T|8,CODON|p.R249M|c.746G>T|9,CODON|p.R249M|c.746G>T|9,CODON|p.R249K|c.746G>A|17,CODON|p.R249M|c.746G>T|4,CODON|p.R249T|c.746G>C|20,CODON|p.R249T|c.746G>C|4,CODON|p.R249M|c.746G>T|35,CODON|p.R249T|c.746G>C|4,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.T253I|c.758C>T|4,BUFFER|p.T253N|c.758C>A|3,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.T253P|c.757A>C|3,BUFFER|p.T253S|c.757A>T|5,BUFFER|p.T253A|c.757A>G|3,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252P|c.755T>C|10,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252P|c.755T>C|3,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R248Q|c.743_744GG>AA|5,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248R|c.744G>A|5,BUFFER|p.R248W|c.741_742CC>TT|15,BUFFER|p.R248Q|c.743G>A|113,BUFFER|p.R248Q|c.743G>A|633,BUFFER|p.R248L|c.743G>T|7,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|64,BUFFER|p.R155L|c.464G>T|12,BUFFER|p.R155P|c.464G>C|5,BUFFER|p.R248P|c.743G>C|17,BUFFER|p.R248L|c.743G>T|12,BUFFER|p.R248Q|c.743G>A|42,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248L|c.743G>T|74,BUFFER|p.R155Q|c.464G>A|114,BUFFER|p.R248P|c.743G>C|5,BUFFER|p.R248Q|c.743G>A|110,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs28934571,TP53_g.13384G>T,TP53_g.13384G>A,TP53_g.13384del,TP53_g.13384G>C,COSM44625,COSM10785,COSM10817,COSM131478,COSM1386614,COSM255318,COSM255317,COSM131479,COSM1386615,COSM3717634,COSM3773302,COSM1679495,COSM1646861	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,20886114	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg249Ser,ENST00000420246,;TP53,missense_variant,p.Arg249Ser,ENST00000269305,;TP53,missense_variant,p.Arg117Ser,ENST00000509690,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	937	67	47	SUCCESS
KLHL14	57565	.	GRCh37	18	30257147	30257147	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	57	97	0	ENST00000359358.4:c.1735A>G	p.Ser579Gly	p.S579G	ENST00000359358	NM_020805.1	579	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS32813.1	1735	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTGTAGC	NONE	.	.	Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Pfam_domain:PF01344,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60	.	.	ENSP00000352314	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000359358	Transcript	.	.	ENSG00000197705	29266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	KLH14_HUMAN	KLHL14	HGNC	.	.	UPI00001C1FF2	SNV	KLHL14,missense_variant,p.Ser579Gly,ENST00000359358,;	2174	97	133	SUCCESS
ST8SIA3	51046	.	GRCh37	18	55020075	55020075	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	19	23	0	ENST00000324000.3:c.-3G>C		p.*1*	ENST00000324000	NM_015879.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32834.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGGGATG	NONE	.	.	.	.	.	ENSP00000320431	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000324000	Transcript	.	.	ENSG00000177511	14269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA8C_HUMAN	ST8SIA3	HGNC	Q59GW3_HUMAN	.	UPI000014126D	SNV	ST8SIA3,5_prime_UTR_variant,,ENST00000324000,;ST8SIA3,upstream_gene_variant,,ENST00000586360,;	2032	23	23	SUCCESS
KCNG2	26251	.	GRCh37	18	77623988	77623988	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	12	12	0	ENST00000316249.3:c.321C>A	p.Tyr107Ter	p.Y107*	ENST00000316249	NM_012283.1	107	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS12019.1	321	RADIA|MUTECT|MUSE	.	GCCTACTGGGG	NONE	.	.	Prints_domain:PR01492,Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF02214,Gene3D:3.30.710.10,hmmpanther:PTHR11537:SF90,hmmpanther:PTHR11537	.	.	ENSP00000315654	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000316249	Transcript	.	.	ENSG00000178342	6249	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNG2_HUMAN	KCNG2	HGNC	.	.	UPI000012DC9B	SNV	KCNG2,stop_gained,p.Tyr107Ter,ENST00000316249,;	321	12	13	SUCCESS
ZNF708	7562	.	GRCh37	19	21476555	21476555	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	63	0	ENST00000356929.3:c.1213T>G	p.Ser405Ala	p.S405A	ENST00000356929	NM_021269.2	405	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS32980.1	1213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGAGGACT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	deleterious(0.05)	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,missense_variant,p.Ser405Ala,ENST00000356929,;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;	1411	63	58	SUCCESS
LRP3	4037	.	GRCh37	19	33696163	33696163	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	27	0	ENST00000253193.7:c.487C>T	p.Gln163Ter	p.Q163*	ENST00000253193	NM_002333.3	163	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12430.1	487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCAGGCA	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF211	.	.	ENSP00000253193	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000253193	Transcript	.	.	ENSG00000130881	6695	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP3_HUMAN	LRP3	HGNC	.	.	UPI0000047A9C	SNV	LRP3,stop_gained,p.Gln163Ter,ENST00000253193,;LRP3,stop_gained,p.Gln81Ter,ENST00000592484,;SLC7A10,downstream_gene_variant,,ENST00000253188,;CTD-2540B15.13,upstream_gene_variant,,ENST00000609744,;LRP3,non_coding_transcript_exon_variant,,ENST00000590275,;LRP3,non_coding_transcript_exon_variant,,ENST00000590278,;SLC7A10,downstream_gene_variant,,ENST00000590490,;SLC7A10,downstream_gene_variant,,ENST00000590036,;	689	27	36	SUCCESS
KIAA0355	0	.	GRCh37	19	34839933	34839933	+	synonymous_variant	Silent	SNP	C	C	T	rs150651317	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	56	0	ENST00000299505.6:c.2700C>T	p.His900=	p.H900=	ENST00000299505	NM_014686.3	900	caC/caT	0	T:0.0002	.	.	.	.	T	H	protein_coding	YES	CCDS12436.1	2700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACGGTGG	NONE	byCluster	.	hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	.	T:0	ENSP00000299505	.	12/14	.	.	.	.	.	.	.	.	rs150651317	12/14	PASS	ENST00000299505	Transcript	.	.	ENSG00000166398	29016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0355_HUMAN	KIAA0355	HGNC	U3KPV0_HUMAN,K7EPA0_HUMAN	.	UPI000013E5AD	SNV	KIAA0355,synonymous_variant,p.%3D,ENST00000299505,;KIAA0355,intron_variant,,ENST00000588338,;AC010504.2,intron_variant,,ENST00000591311,;KIAA0355,non_coding_transcript_exon_variant,,ENST00000588974,;	3573	56	72	SUCCESS
FCGBP	8857	.	GRCh37	19	40396028	40396028	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	22	145	0	ENST00000221347.6:c.7369G>A	p.Gly2457Arg	p.G2457R	ENST00000221347	NM_003890.2	2457	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12546.1	7369	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCCGACG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216	.	.	ENSP00000221347	.	15/36	.	.	.	.	.	.	.	.	.	15/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Gly2457Arg,ENST00000221347,;FCGBP,intron_variant,,ENST00000601713,;	7377	145	175	SUCCESS
LRRC4B	94030	.	GRCh37	19	51021678	51021678	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	43	0	ENST00000389201.3:c.1292C>T	p.Thr431Met	p.T431M	ENST00000389201	NM_001080457.1	431	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS42595.1	1292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGTGTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF7,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000471502	.	3/3	.	.	.	.	.	.	.	.	COSM999757	3/3	PASS	ENST00000599957	Transcript	.	.	ENSG00000131409	25042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.963)	.	deleterious(0.01)	1	LRC4B_HUMAN	LRRC4B	HGNC	M0R2G0_HUMAN,A0PJJ4_HUMAN	.	UPI00000497E7	SNV	LRRC4B,missense_variant,p.Thr431Met,ENST00000599957,;LRRC4B,missense_variant,p.Thr431Met,ENST00000389201,;LRRC4B,downstream_gene_variant,,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000376916,;ASPDH,upstream_gene_variant,,ENST00000389208,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000601287,;	1490	43	43	SUCCESS
SHANK1	50944	.	GRCh37	19	51169904	51169904	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	38	0	ENST00000293441.1:c.5313C>A	p.Gly1771=	p.G1771=	ENST00000293441	NM_016148.2	1771	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12799.1	5313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCCAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,synonymous_variant,p.%3D,ENST00000391814,;SHANK1,synonymous_variant,p.%3D,ENST00000391813,;SHANK1,synonymous_variant,p.%3D,ENST00000359082,;SHANK1,synonymous_variant,p.%3D,ENST00000293441,;SYT3,intron_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,synonymous_variant,p.%3D,ENST00000468654,;	5332	38	26	SUCCESS
VN1R4	317703	.	GRCh37	19	53770065	53770065	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	80	1	ENST00000311170.4:c.854T>C	p.Leu285Pro	p.L285P	ENST00000311170	NM_173857.2	285	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS33099.1	854	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCATGAGAACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF59,Gene3D:1.20.1070.10,Pfam_domain:PF03402,Superfamily_domains:SSF81321,Prints_domain:PR01534	.	.	ENSP00000310856	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311170	Transcript	.	.	ENSG00000228567	19871	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	VN1R4_HUMAN	VN1R4	HGNC	.	.	UPI000004B23A	SNV	VN1R4,missense_variant,p.Leu285Pro,ENST00000311170,;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;VN1R2,downstream_gene_variant,,ENST00000598458,;	908	81	88	SUCCESS
LILRP2	79166	.	GRCh37	19	55221378	55221378	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	44	0	ENST00000413439.1:n.1158C>A		p.*386*	ENST00000413439				0	.	.	.	.	.	A	.	miRNA	YES	.	.	MUTECT|MUSE	.	GGGCCCTGTCG	NONE	.	3301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000583865	Transcript	.	.	ENSG00000266427	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC098784.2	Clone_based_ensembl_gene	.	.	.	SNV	AC098784.2,downstream_gene_variant,,ENST00000583865,;LILRP2,non_coding_transcript_exon_variant,,ENST00000413439,;LILRP2,non_coding_transcript_exon_variant,,ENST00000413572,;	.	44	48	SUCCESS
C3	718	.	GRCh37	19	6714044	6714046	+	inframe_deletion	In_Frame_Del	DEL	GTA	GTA	-	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	GTA	GTA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	34	0	ENST00000245907.6:c.730_732del	p.Tyr244del	p.Y244del	ENST00000245907	NM_000064.2	244	TAC/-	0	.	.	.	.	.	-	Y/-	protein_coding	YES	CCDS32883.1	730-732	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAGATGTAGTAGA	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	.	.	ENSP00000245907	.	7/41	.	.	.	.	.	.	.	.	.	7/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	deletion	C3,inframe_deletion,p.Tyr244del,ENST00000245907,;C3,downstream_gene_variant,,ENST00000600744,;C3,upstream_gene_variant,,ENST00000594270,;C3,upstream_gene_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000594936,;	823-825	34	41	SUCCESS
AGL	178	.	GRCh37	1	100350158	100350158	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	64	160	0	ENST00000294724.4:c.2580T>C	p.Val860=	p.V860=	ENST00000294724	NM_000028.2	860	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS759.1	2580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTTGGAAT	NONE	.	.	hmmpanther:PTHR10569,Pfam_domain:PF14702,TIGRFAM_domain:TIGR01531	.	.	ENSP00000294724	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,synonymous_variant,p.%3D,ENST00000370163,;AGL,synonymous_variant,p.%3D,ENST00000361302,;AGL,synonymous_variant,p.%3D,ENST00000294724,;AGL,synonymous_variant,p.%3D,ENST00000370165,;AGL,synonymous_variant,p.%3D,ENST00000361522,;AGL,synonymous_variant,p.%3D,ENST00000370161,;AGL,synonymous_variant,p.%3D,ENST00000361915,;	3058	160	177	SUCCESS
MAN1A2	10905	.	GRCh37	1	118065534	118065534	+	synonymous_variant	Silent	SNP	A	A	G	rs757179136	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	42	74	0	ENST00000356554.3:c.1881A>G	p.Leu627=	p.L627=	ENST00000356554	NM_006699.3	627	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS895.1	1881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTACATTT	NONE	.	.	hmmpanther:PTHR11742:SF40,hmmpanther:PTHR11742,Gene3D:1.50.10.50	.	.	ENSP00000348959	.	13/13	.	.	.	.	.	.	.	.	rs757179136	13/13	PASS	ENST00000356554	Transcript	.	.	ENSG00000198162	6822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MA1A2_HUMAN	MAN1A2	HGNC	.	.	UPI0000052B45	SNV	MAN1A2,synonymous_variant,p.%3D,ENST00000422329,;MAN1A2,synonymous_variant,p.%3D,ENST00000421535,;MAN1A2,synonymous_variant,p.%3D,ENST00000356554,;	2616	74	76	SUCCESS
HRNR	388697	.	GRCh37	1	152187996	152187996	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753847125	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	263	65	190	0	ENST00000368801.2:c.6109G>A	p.Gly2037Ser	p.G2037S	ENST00000368801	NM_001009931.2	2037	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS30859.1	6109	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCTGAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Gly2037Ser,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	6185	190	328	SUCCESS
FLG	2312	.	GRCh37	1	152280081	152280081	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	77	126	2	ENST00000368799.1:c.7281C>A	p.Ala2427=	p.A2427=	ENST00000368799	NM_002016.1	2427	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS30860.1	7281	RADIA|SOMATICSNIPER|VARSCANS	.	CCATGGGCGGA	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7317	128	226	SUCCESS
OR10K1	391109	.	GRCh37	1	158435495	158435495	+	synonymous_variant	Silent	SNP	C	C	A	rs536094744	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	245	258	2	ENST00000289451.2:c.144C>A	p.Thr48=	p.T48=	ENST00000289451	NM_001004473.1	48	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30897.1	144	RADIA|SOMATICSNIPER|VARSCANS	.	TCCACCATTGT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF112,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000289451	.	1/1	.	.	.	.	.	.	.	.	rs536094744	1/1	PASS	ENST00000289451	Transcript	.	.	ENSG00000173285	14693	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O10K1_HUMAN	OR10K1	HGNC	.	.	UPI0000041B19	SNV	OR10K1,synonymous_variant,p.%3D,ENST00000289451,;	224	260	424	SUCCESS
FASLG	356	.	GRCh37	1	172628546	172628546	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747549963	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	141	134	2	ENST00000367721.2:c.205C>G	p.Pro69Ala	p.P69A	ENST00000367721	NM_000639.1	69	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS1304.1	205	RADIA|SOMATICSNIPER|VARSCANS	.	CGCTGCCACCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF30	.	.	ENSP00000356694	.	1/4	.	.	.	.	.	.	.	.	rs747549963	1/4	PASS	ENST00000367721	Transcript	.	.	ENSG00000117560	11936	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.053)	.	tolerated(0.43)	.	TNFL6_HUMAN	FASLG	HGNC	Q53ZZ1_HUMAN	.	UPI000000D91A	SNV	FASLG,missense_variant,p.Pro69Ala,ENST00000340030,;FASLG,missense_variant,p.Pro69Ala,ENST00000367721,;	389	136	235	SUCCESS
FASLG	356	.	GRCh37	1	172628547	172628547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	137	131	2	ENST00000367721.2:c.206C>A	p.Pro69Gln	p.P69Q	ENST00000367721	NM_000639.1	69	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS1304.1	206	RADIA|VARSCANS	.	GCTGCCACCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF30	.	.	ENSP00000356694	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000367721	Transcript	.	.	ENSG00000117560	11936	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.165)	.	tolerated(0.41)	.	TNFL6_HUMAN	FASLG	HGNC	Q53ZZ1_HUMAN	.	UPI000000D91A	SNV	FASLG,missense_variant,p.Pro69Gln,ENST00000340030,;FASLG,missense_variant,p.Pro69Gln,ENST00000367721,;	390	133	231	SUCCESS
HMCN1	83872	.	GRCh37	1	186017888	186017888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	25	79	0	ENST00000271588.4:c.6494A>G	p.Gln2165Arg	p.Q2165R	ENST00000271588	NM_031935.2	2165	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS30956.1	6494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCAGGTTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	42/107	.	.	.	.	.	.	.	.	.	42/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.634)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Gln2165Arg,ENST00000367492,;HMCN1,missense_variant,p.Gln2165Arg,ENST00000271588,;	6723	79	122	SUCCESS
IPO9	55705	.	GRCh37	1	201837827	201837827	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776235060	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	60	43	1	ENST00000361565.4:c.1907T>C	p.Ile636Thr	p.I636T	ENST00000361565	NM_018085.4	636	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS1415.1	1907	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCAGATTGAAG	NONE	byFrequency	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354742	.	16/24	.	.	.	.	.	.	.	.	rs776235060	16/24	PASS	ENST00000361565	Transcript	.	.	ENSG00000198700	19425	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.7)	.	IPO9_HUMAN	IPO9	HGNC	.	.	UPI000007304B	SNV	IPO9,missense_variant,p.Ile636Thr,ENST00000361565,;	1976	45	108	SUCCESS
SPATA17	128153	.	GRCh37	1	217915436	217915436	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	39	45	0	ENST00000366933.4:c.515A>T	p.Lys172Met	p.K172M	ENST00000366933	NM_138796.2	172	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS1519.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAAGCAGG	NONE	.	.	hmmpanther:PTHR22706	.	.	ENSP00000355900	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000366933	Transcript	.	.	ENSG00000162814	25184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	deleterious(0)	.	SPT17_HUMAN	SPATA17	HGNC	R4GN71_HUMAN	.	UPI00000717C2	SNV	SPATA17,missense_variant,p.Lys172Met,ENST00000366933,;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;SPATA17,3_prime_UTR_variant,,ENST00000470448,;	570	45	65	SUCCESS
HEATR1	55127	.	GRCh37	1	236720605	236720605	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745546689	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	59	115	0	ENST00000366582.3:c.5245G>A	p.Glu1749Lys	p.E1749K	ENST00000366582	NM_018072.5	1749	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31066.1	5245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCGCTGG	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR13457:SF1,hmmpanther:PTHR13457,Low_complexity_(Seg):seg	.	.	ENSP00000355541	.	37/45	.	.	.	.	.	.	.	.	rs745546689	37/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	deleterious(0.04)	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	SNV	HEATR1,missense_variant,p.Glu1668Lys,ENST00000366581,;HEATR1,missense_variant,p.Glu1749Lys,ENST00000366582,;LGALS8,downstream_gene_variant,,ENST00000526589,;	5360	115	186	SUCCESS
AHCTF1	25909	.	GRCh37	1	247031037	247031037	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	199	218	1	ENST00000326225.3:c.3192C>A	p.Ile1064=	p.I1064=	ENST00000326225	NM_015446.4	1064	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1629.2	3192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGATGAA	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	25/36	.	.	.	.	.	.	.	.	.	25/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,synonymous_variant,p.%3D,ENST00000391829,;AHCTF1,synonymous_variant,p.%3D,ENST00000366508,;AHCTF1,synonymous_variant,p.%3D,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,upstream_gene_variant,,ENST00000477526,;	3289	219	350	SUCCESS
OR14A16	284532	.	GRCh37	1	247978677	247978677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	99	96	1	ENST00000357627.1:c.355G>A	p.Asp119Asn	p.D119N	ENST00000357627	NM_001001966.1	119	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS31097.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTCAAAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000350248	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0.04)	.	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	SNV	OR14A16,missense_variant,p.Asp119Asn,ENST00000357627,;	355	97	146	SUCCESS
MMEL1	79258	.	GRCh37	1	2524344	2524344	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	61	0	ENST00000378412.3:c.1929C>T	p.His643=	p.H643=	ENST00000378412		643	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS30569.2	1929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAAGTGCTG	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF112,Pfam_domain:PF01431,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000367668	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000378412	Transcript	.	.	ENSG00000142606	14668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMEL1_HUMAN	MMEL1	HGNC	.	.	UPI0000047596	SNV	MMEL1,synonymous_variant,p.%3D,ENST00000378412,;MMEL1,synonymous_variant,p.%3D,ENST00000502556,;MMEL1,synonymous_variant,p.%3D,ENST00000288709,;FAM213B,downstream_gene_variant,,ENST00000444521,;FAM213B,downstream_gene_variant,,ENST00000537325,;FAM213B,downstream_gene_variant,,ENST00000465233,;FAM213B,downstream_gene_variant,,ENST00000419916,;MMEL1,upstream_gene_variant,,ENST00000471840,;FAM213B,downstream_gene_variant,,ENST00000378427,;FAM213B,downstream_gene_variant,,ENST00000378425,;FAM213B,downstream_gene_variant,,ENST00000378424,;FAM213B,downstream_gene_variant,,ENST00000498083,;FAM213B,downstream_gene_variant,,ENST00000464043,;FAM213B,downstream_gene_variant,,ENST00000493183,;FAM213B,downstream_gene_variant,,ENST00000477045,;FAM213B,downstream_gene_variant,,ENST00000481683,;FAM213B,downstream_gene_variant,,ENST00000484099,;FAM213B,downstream_gene_variant,,ENST00000474659,;FAM213B,downstream_gene_variant,,ENST00000476686,;MMEL1,3_prime_UTR_variant,,ENST00000504800,;MMEL1,non_coding_transcript_exon_variant,,ENST00000469962,;MMEL1,upstream_gene_variant,,ENST00000491941,;MMEL1,upstream_gene_variant,,ENST00000464195,;	2091	61	69	SUCCESS
AIM1L	0	.	GRCh37	1	26655355	26655355	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	52	0	ENST00000527815.1:c.1702G>A	p.Glu568Lys	p.E568K	ENST00000527815	NM_001039775.3	568	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	.	1702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCTGAAA	NONE	.	.	Superfamily_domains:SSF49695,Gene3D:2.60.20.10,hmmpanther:PTHR11818:SF50,hmmpanther:PTHR11818	.	.	ENSP00000433931	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000527815	Transcript	.	.	ENSG00000176092	17295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	.	AIM1L	HGNC	E9PIR9_HUMAN	.	UPI0001F7836C	SNV	AIM1L,missense_variant,p.Glu397Lys,ENST00000308182,;AIM1L,missense_variant,p.Glu568Lys,ENST00000527815,;AIM1L,downstream_gene_variant,,ENST00000429942,;AIM1L,downstream_gene_variant,,ENST00000522923,;AIM1L,upstream_gene_variant,,ENST00000374211,;AIM1L,upstream_gene_variant,,ENST00000374208,;AIM1L,non_coding_transcript_exon_variant,,ENST00000520372,;RP11-569G9.7,downstream_gene_variant,,ENST00000434718,;	1752	52	57	SUCCESS
PCSK9	255738	.	GRCh37	1	55527146	55527146	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	76	127	0	ENST00000302118.5:c.1780G>A	p.Ala594Thr	p.A594T	ENST00000302118	NM_174936.3	594	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS603.1	1780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGCCAGC	NONE	.	.	hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333	.	.	ENSP00000303208	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000302118	Transcript	.	.	ENSG00000169174	20001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.13)	.	PCSK9_HUMAN	PCSK9	HGNC	.	.	UPI00001615E1	SNV	PCSK9,missense_variant,p.Ala594Thr,ENST00000302118,;PCSK9,3_prime_UTR_variant,,ENST00000543384,;USP24,downstream_gene_variant,,ENST00000407756,;USP24,downstream_gene_variant,,ENST00000294383,;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;	2070	127	168	SUCCESS
EFCAB7	84455	.	GRCh37	1	63998376	63998376	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	113	254	0	ENST00000371088.4:c.435C>T	p.Ala145=	p.A145=	ENST00000371088	NM_032437.2	145	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS30737.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCATAAT	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF138,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000360129	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000371088	Transcript	.	.	ENSG00000203965	29379	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB7_HUMAN	EFCAB7	HGNC	.	.	UPI000006EAB2	SNV	EFCAB7,synonymous_variant,p.%3D,ENST00000371088,;RNU7-123P,downstream_gene_variant,,ENST00000515911,;RN7SL488P,upstream_gene_variant,,ENST00000585186,;ITGB3BP,intron_variant,,ENST00000478138,;EFCAB7,upstream_gene_variant,,ENST00000496956,;EFCAB7,downstream_gene_variant,,ENST00000480886,;EFCAB7,upstream_gene_variant,,ENST00000493605,;	681	254	292	SUCCESS
SEP15	0	.	GRCh37	1	87379756	87379756	+	synonymous_variant	Silent	SNP	C	C	A	rs750460723	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	59	0	ENST00000331835.5:c.30G>T	p.Val10=	p.V10=	ENST00000331835	NM_004261.3	10	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	.	30	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCACCAG	NONE	.	.	hmmpanther:PTHR13077,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000328729	.	1/5	.	.	.	.	.	.	.	.	rs750460723	1/5	PASS	ENST00000331835	Transcript	.	.	ENSG00000183291	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEP15_HUMAN	SEP15	Uniprot_gn	.	.	UPI0000161F5A	SNV	SEP15,synonymous_variant,p.%3D,ENST00000370554,;SEP15,synonymous_variant,p.%3D,ENST00000401030,;SEP15,synonymous_variant,p.%3D,ENST00000331835,;HS2ST1,upstream_gene_variant,,ENST00000370550,;HS2ST1,upstream_gene_variant,,ENST00000370551,;SEP15,intron_variant,,ENST00000469566,;SEP15,upstream_gene_variant,,ENST00000467557,;	293	59	75	SUCCESS
SIRPB1	10326	.	GRCh37	20	1552656	1552656	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139432093	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	120	0	ENST00000381605.4:c.461G>A	p.Gly154Asp	p.G154D	ENST00000381605	NM_006065.3	154	gGc/gAc	0	.	A:0.0038	.	A:0	.	T	G/D	protein_coding	YES	CCDS13019.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCGAT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	A:0	.	ENSP00000371018	A:0	3/6	.	.	.	.	.	.	.	.	rs757130125,rs139432093	3/6	PASS	ENST00000381605	Transcript	.	A:0.0010	ENSG00000101307	15928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	A:0	deleterious(0)	.	SIRB1_HUMAN	SIRPB1	HGNC	.	.	UPI000036700F	SNV	SIRPB1,missense_variant,p.Gly154Asp,ENST00000381605,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,intron_variant,,ENST00000567028,;SIRPB1,intron_variant,,ENST00000262929,;SIRPB1,intron_variant,,ENST00000563840,;SIRPB1,intron_variant,,ENST00000381603,;SIRPB1,intron_variant,,ENST00000569629,;SIRPB1,upstream_gene_variant,,ENST00000565076,;	526	120	129	SUCCESS
LBP	3929	.	GRCh37	20	36974893	36974893	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	27	0	ENST00000217407.2:c.-27C>T		p.*9*	ENST00000217407	NM_004139.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13304.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGTCCTGGC	NONE	.	.	.	.	.	ENSP00000217407	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000217407	Transcript	.	.	ENSG00000129988	6517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBP_HUMAN	LBP	HGNC	.	.	UPI000013C728	SNV	LBP,5_prime_UTR_variant,,ENST00000217407,;	135	27	37	SUCCESS
PLCB1	23236	.	GRCh37	20	8113326	8113326	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs150241349	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	50	119	0	ENST00000338037.6:c.28G>T	p.Ala10Ser	p.A10S	ENST00000338037	NM_015192.3	10	Gcc/Tcc	0	T:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS13102.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGCCTTG	NONE	byCluster	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956	.	T:0.0003	ENSP00000338185	.	1/32	.	.	.	.	.	.	.	.	rs150241349	1/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.1)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Ala10Ser,ENST00000378641,;PLCB1,missense_variant,p.Ala10Ser,ENST00000338037,;PLCB1,missense_variant,p.Ala9Ser,ENST00000404098,;PLCB1,missense_variant,p.Ala10Ser,ENST00000378637,;	55	119	101	SUCCESS
EVA1C	59271	.	GRCh37	21	33887198	33887198	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	31	41	0	ENST00000300255.2:c.1024G>T	p.Val342Phe	p.V342F	ENST00000300255	NM_058187.3	342	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS13614.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGTCATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF220,Pfam_domain:PF14851	.	.	ENSP00000300255	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000300255	Transcript	.	.	ENSG00000166979	13239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	EVA1C_HUMAN	EVA1C	HGNC	C9JS02_HUMAN,B3KWG0_HUMAN	.	UPI00000373F4	SNV	EVA1C,missense_variant,p.Val294Phe,ENST00000401402,;EVA1C,missense_variant,p.Val342Phe,ENST00000300255,;EVA1C,missense_variant,p.Val339Phe,ENST00000382699,;EVA1C,non_coding_transcript_exon_variant,,ENST00000485488,;EVA1C,downstream_gene_variant,,ENST00000496615,;EVA1C,3_prime_UTR_variant,,ENST00000435323,;EVA1C,3_prime_UTR_variant,,ENST00000457807,;EVA1C,3_prime_UTR_variant,,ENST00000437338,;EVA1C,non_coding_transcript_exon_variant,,ENST00000464037,;	1497	41	52	SUCCESS
PDE9A	5152	.	GRCh37	21	44117597	44117597	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	61	189	0	ENST00000291539.6:c.219-1481C>T		p.*73*	ENST00000291539	NM_002606.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13690.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCACCAGGT	NONE	.	.	.	.	.	ENSP00000291539	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291539	Transcript	.	.	ENSG00000160191	8795	.	.	MODIFIER	3/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE9A_HUMAN	PDE9A	HGNC	.	.	UPI0000127C02	SNV	PDE9A,synonymous_variant,p.%3D,ENST00000380328,;PDE9A,intron_variant,,ENST00000335512,;PDE9A,intron_variant,,ENST00000398224,;PDE9A,intron_variant,,ENST00000398234,;PDE9A,intron_variant,,ENST00000539837,;PDE9A,intron_variant,,ENST00000291539,;PDE9A,intron_variant,,ENST00000349112,;PDE9A,intron_variant,,ENST00000398232,;PDE9A,intron_variant,,ENST00000398225,;PDE9A,intron_variant,,ENST00000398236,;PDE9A,intron_variant,,ENST00000398229,;PDE9A,intron_variant,,ENST00000335440,;PDE9A,intron_variant,,ENST00000398227,;PDE9A,intron_variant,,ENST00000328862,;PDE9A,non_coding_transcript_exon_variant,,ENST00000470987,;PDE9A,non_coding_transcript_exon_variant,,ENST00000472401,;PDE9A,intron_variant,,ENST00000460905,;PDE9A,intron_variant,,ENST00000462571,;PDE9A,intron_variant,,ENST00000495521,;PDE9A,intron_variant,,ENST00000490803,;PDE9A,intron_variant,,ENST00000486902,;PDE9A,intron_variant,,ENST00000497805,;PDE9A,intron_variant,,ENST00000468805,;PDE9A,intron_variant,,ENST00000460989,;PDE9A,intron_variant,,ENST00000467403,;PDE9A,intron_variant,,ENST00000467162,;	.	189	233	SUCCESS
SH3RF3	344558	.	GRCh37	2	110015366	110015366	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	38	0	ENST00000309415.6:c.1266C>G	p.Asp422Glu	p.D422E	ENST00000309415	NM_001099289.1	422	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	.	1266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGACCTTGC	NONE	.	.	hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116	.	.	ENSP00000309186	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Asp422Glu,ENST00000309415,;SH3RF3,missense_variant,p.Asp422Glu,ENST00000418513,;	1266	38	57	SUCCESS
LCT	3938	.	GRCh37	2	136567036	136567036	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	53	0	ENST00000264162.2:c.2881G>A	p.Ala961Thr	p.A961T	ENST00000264162	NM_002299.2	961	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2178.1	2881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGCATCCA	NONE	.	.	hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445	.	.	ENSP00000264162	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000264162	Transcript	.	.	ENSG00000115850	6530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.854)	.	deleterious(0.04)	.	LPH_HUMAN	LCT	HGNC	.	.	UPI000013D4D2	SNV	LCT,missense_variant,p.Ala961Thr,ENST00000264162,;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,missense_variant,p.Ala393Thr,ENST00000452974,;	2892	53	77	SUCCESS
NEB	4703	.	GRCh37	2	152497166	152497166	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	44	107	0	ENST00000172853.10:c.8388A>C	p.Glu2796Asp	p.E2796D	ENST00000172853		2796	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS54407.1	8388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCTTCTTT	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	61/182	.	.	.	.	.	.	.	.	.	61/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Glu2796Asp,ENST00000603639,;NEB,missense_variant,p.Glu2796Asp,ENST00000172853,;NEB,missense_variant,p.Glu2796Asp,ENST00000427231,;NEB,missense_variant,p.Glu2796Asp,ENST00000397345,;NEB,missense_variant,p.Glu2796Asp,ENST00000604864,;NEB,missense_variant,p.Glu2796Asp,ENST00000409198,;	8591	107	114	SUCCESS
GALNT5	11227	.	GRCh37	2	158115721	158115721	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1410081999	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	48	105	1	ENST00000259056.4:c.1127T>C	p.Val376Ala	p.V376A	ENST00000259056	NM_014568.1	376	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2203.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGTGCCAC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16	.	.	ENSP00000259056	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000259056	Transcript	.	.	ENSG00000136542	4127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	GALT5_HUMAN	GALNT5	HGNC	Q68VJ5_HUMAN	.	UPI000019AD19	SNV	GALNT5,missense_variant,p.Val376Ala,ENST00000259056,;	1612	106	115	SUCCESS
HOXD4	3233	.	GRCh37	2	177016208	177016208	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	17	0	ENST00000306324.3:c.-154C>T		p.*52*	ENST00000306324	NM_014621.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2270.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTCACCAA	NONE	.	.	.	.	.	ENSP00000424734	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000468418	Transcript	.	.	ENSG00000128652	5137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXD3_HUMAN	HOXD3	HGNC	C9J1M3_HUMAN	.	UPI000013CC84	SNV	HOXD3,5_prime_UTR_variant,,ENST00000468418,;HOXD4,5_prime_UTR_variant,,ENST00000306324,;HOXD3,intron_variant,,ENST00000432796,;MIR10B,downstream_gene_variant,,ENST00000385011,;	1087	17	19	SUCCESS
TTN	7273	.	GRCh37	2	179611817	179611817	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	87	169	0	ENST00000591111.1:c.10361-5169G>A		p.*3454*	ENST00000591111				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59435.1	.	RADIA|MUTECT|MUSE	.	TCGCTCTAGAG	NONE	.	.	.	.	.	ENSP00000467141	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODIFIER	47/362	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu5104Lys,ENST00000360870,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000342992,;TTN,intron_variant,,ENST00000589042,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	.	170	204	SUCCESS
DNAH7	56171	.	GRCh37	2	196620969	196620969	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	121	260	0	ENST00000312428.6:c.11474G>A	p.Ser3825Asn	p.S3825N	ENST00000312428	NM_018897.2	3825	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS42794.1	11474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTAACC	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000311273	.	62/65	.	.	.	.	.	.	.	.	.	62/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(1)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Ser308Asn,ENST00000409063,;DNAH7,missense_variant,p.Ser3825Asn,ENST00000312428,;DNAH7,upstream_gene_variant,,ENST00000438565,;	11575	260	298	SUCCESS
WNT6	7475	.	GRCh37	2	219735837	219735837	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	37	76	0	ENST00000233948.3:c.169G>T	p.Ala57Ser	p.A57S	ENST00000233948	NM_006522.3	57	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS2425.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCTGAG	NONE	.	.	hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF72,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000233948	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000233948	Transcript	.	.	ENSG00000115596	12785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.73)	.	WNT6_HUMAN	WNT6	HGNC	Q53S45_HUMAN	.	UPI0000051047	SNV	WNT6,missense_variant,p.Ala57Ser,ENST00000233948,;WNT6,intron_variant,,ENST00000486233,;	386	76	85	SUCCESS
GPR35	2859	.	GRCh37	2	241569984	241569984	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766022798	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	63	0	ENST00000319838.5:c.615C>A	p.Asp205Glu	p.D205E	ENST00000319838	NM_001195381.1	205	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS56174.1	708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGACGTGGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF9,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000415890	.	6/6	.	.	.	.	.	.	.	.	rs766022798	6/6	PASS	ENST00000438013	Transcript	.	.	ENSG00000178623	4492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.32)	.	GPR35_HUMAN	GPR35	HGNC	.	.	UPI0000E6291C	SNV	GPR35,missense_variant,p.Asp205Glu,ENST00000430267,;GPR35,missense_variant,p.Asp205Glu,ENST00000407714,;GPR35,missense_variant,p.Asp236Glu,ENST00000438013,;GPR35,missense_variant,p.Asp205Glu,ENST00000319838,;GPR35,missense_variant,p.Asp205Glu,ENST00000403859,;	1429	63	67	SUCCESS
CAPN13	92291	.	GRCh37	2	31010123	31010123	+	synonymous_variant	Silent	SNP	G	G	T	rs771334705	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	58	127	0	ENST00000295055.8:c.69C>A	p.Thr23=	p.T23=	ENST00000295055	NM_144575.2	23	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS46252.1	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAAGGTGGT	NONE	byFrequency	.	hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	.	ENSP00000295055	.	2/23	.	.	.	.	.	.	.	.	rs771334705	2/23	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,synonymous_variant,p.%3D,ENST00000534090,;CAPN13,synonymous_variant,p.%3D,ENST00000295055,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,synonymous_variant,p.%3D,ENST00000485248,;CAPN13,synonymous_variant,p.%3D,ENST00000458085,;	246	127	144	SUCCESS
SPTBN1	6711	.	GRCh37	2	54859797	54859797	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	80	0	ENST00000356805.4:c.3659C>T	p.Ala1220Val	p.A1220V	ENST00000356805	NM_003128.2	1220	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33198.1	3659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGCCAATG	NONE	.	.	SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	17/36	.	.	.	.	.	.	.	.	.	17/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	deleterious(0.04)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Ala1207Val,ENST00000333896,;SPTBN1,missense_variant,p.Ala1220Val,ENST00000356805,;SPTBN1,downstream_gene_variant,,ENST00000389980,;	3940	80	121	SUCCESS
ZNF638	27332	.	GRCh37	2	71654499	71654499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	20	0	ENST00000264447.4:c.5500G>A	p.Val1834Ile	p.V1834I	ENST00000264447	NM_001014972.2	1834	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS1917.1	5500	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATGTTATG	NONE	.	.	hmmpanther:PTHR15592:SF1,hmmpanther:PTHR15592	.	.	ENSP00000386433	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.44)	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,missense_variant,p.Val774Ile,ENST00000409407,;ZNF638,missense_variant,p.Val1834Ile,ENST00000409544,;ZNF638,missense_variant,p.Val1834Ile,ENST00000264447,;ZNF638,3_prime_UTR_variant,,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000483421,;ZNF638,non_coding_transcript_exon_variant,,ENST00000493576,;ZNF638,non_coding_transcript_exon_variant,,ENST00000472758,;ZNF638,non_coding_transcript_exon_variant,,ENST00000492262,;ZNF638,non_coding_transcript_exon_variant,,ENST00000461991,;ZNF638,upstream_gene_variant,,ENST00000460310,;ZNF638,upstream_gene_variant,,ENST00000488126,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,downstream_gene_variant,,ENST00000494241,;	6130	20	24	SUCCESS
MRPL53	116540	.	GRCh37	2	74699851	74699851	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	34	0	ENST00000258105.7:c.-64C>A		p.*22*	ENST00000258105	NM_053050.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1944.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATGGCTGC	NONE	.	.	.	.	.	ENSP00000258105	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000258105	Transcript	.	.	ENSG00000204822	16684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM53_HUMAN	MRPL53	HGNC	.	.	UPI000006ED10	SNV	MRPL53,5_prime_UTR_variant,,ENST00000258105,;CCDC142,downstream_gene_variant,,ENST00000393965,;CCDC142,downstream_gene_variant,,ENST00000290418,;MRPL53,upstream_gene_variant,,ENST00000409710,;CCDC142,3_prime_UTR_variant,,ENST00000454193,;CCDC142,downstream_gene_variant,,ENST00000497232,;CCDC142,downstream_gene_variant,,ENST00000473278,;MRPL53,upstream_gene_variant,,ENST00000468875,;MRPL53,upstream_gene_variant,,ENST00000467349,;CCDC142,downstream_gene_variant,,ENST00000486335,;	599	34	45	SUCCESS
DZIP3	9666	.	GRCh37	3	108407750	108407750	+	synonymous_variant	Silent	SNP	C	C	T	rs200425501	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	85	240	1	ENST00000361582.3:c.3495C>T	p.Cys1165=	p.C1165=	ENST00000361582	NM_014648.3	1165	tgC/tgT	0	T:0	T:0	.	T:0	.	T	C	protein_coding	YES	CCDS2952.1	3495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCGCTCA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850	T:0	T:0.0001	ENSP00000355028	T:0.002	31/33	.	.	.	.	.	.	.	.	rs200425501	31/33	PASS	ENST00000361582	Transcript	.	T:0.0004	ENSG00000198919	30938	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,synonymous_variant,p.%3D,ENST00000463306,;DZIP3,synonymous_variant,p.%3D,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	3725	241	235	SUCCESS
ATP13A4	84239	.	GRCh37	3	193175188	193175188	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	76	154	0	ENST00000342695.4:c.1741C>T	p.Pro581Ser	p.P581S	ENST00000342695	NM_032279.2	581	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS3304.2	1741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGCTTAA	NONE	.	.	hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF81660	.	.	ENSP00000339182	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Pro562Ser,ENST00000392443,;ATP13A4,missense_variant,p.Pro581Ser,ENST00000342695,;ATP13A4,downstream_gene_variant,,ENST00000295548,;ATP13A4,missense_variant,p.Pro221Ser,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;	2064	154	184	SUCCESS
SMIM4	440957	.	GRCh37	3	52570739	52570739	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	42	52	1	ENST00000477703.1:c.-33C>T		p.*11*	ENST00000477703	NM_001124767.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46844.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTCCGTCA	NONE	.	.	.	.	.	ENSP00000417806	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000477703	Transcript	.	.	ENSG00000168273	37257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMIM4_HUMAN	SMIM4	HGNC	.	.	UPI0000159295	SNV	SMIM4,5_prime_UTR_variant,,ENST00000477703,;SMIM4,5_prime_UTR_variant,,ENST00000476842,;SMIM4,5_prime_UTR_variant,,ENST00000307106,;NT5DC2,upstream_gene_variant,,ENST00000459839,;NT5DC2,upstream_gene_variant,,ENST00000422318,;NT5DC2,upstream_gene_variant,,ENST00000489316,;NT5DC2,upstream_gene_variant,,ENST00000307092,;NT5DC2,upstream_gene_variant,,ENST00000307076,;SMIM4,intron_variant,,ENST00000491607,;SMIM4,intron_variant,,ENST00000482728,;NT5DC2,upstream_gene_variant,,ENST00000487779,;NT5DC2,upstream_gene_variant,,ENST00000490681,;NT5DC2,upstream_gene_variant,,ENST00000492555,;	119	53	73	SUCCESS
CADM2	253559	.	GRCh37	3	85935378	85935378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	149	82	221	0	ENST00000407528.2:c.403C>A	p.Pro135Thr	p.P135T	ENST00000407528	NM_001167674.1	135	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33792.1	409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCACCAGTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.844)	.	deleterious(0.01)	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,missense_variant,p.Pro135Thr,ENST00000407528,;CADM2,missense_variant,p.Pro144Thr,ENST00000383699,;CADM2,missense_variant,p.Pro137Thr,ENST00000405615,;	409	221	231	SUCCESS
EPHA3	2042	.	GRCh37	3	89391190	89391190	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1282140504	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	58	0	ENST00000336596.2:c.1256G>T	p.Ser419Ile	p.S419I	ENST00000336596	NM_005233.5	419	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS2922.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGCTCCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000337451	.	5/17	.	.	.	.	.	.	.	.	COSM1048861,COSM1048862	5/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.238)	.	deleterious(0)	1,1	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Ser419Ile,ENST00000494014,;EPHA3,missense_variant,p.Ser419Ile,ENST00000452448,;EPHA3,missense_variant,p.Ser419Ile,ENST00000336596,;	1481	58	76	SUCCESS
NDNF	79625	.	GRCh37	4	121958596	121958596	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs748553660	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	84	188	0	ENST00000379692.4:c.530C>A	p.Pro177His	p.P177H	ENST00000379692	NM_024574.3	177	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS3717.2	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGGTAAC	NONE	.	.	hmmpanther:PTHR14619,hmmpanther:PTHR14619:SF1,Pfam_domain:PF10179,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000369014	.	4/4	.	.	.	.	.	.	.	.	rs748553660	4/4	PASS	ENST00000379692	Transcript	.	.	ENSG00000173376	26256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NDNF_HUMAN	NDNF	HGNC	D6RF18_HUMAN,D6R972_HUMAN	.	UPI00001D6985	SNV	NDNF,missense_variant,p.Pro177His,ENST00000379692,;NDNF,downstream_gene_variant,,ENST00000515757,;NDNF,downstream_gene_variant,,ENST00000511408,;NDNF,non_coding_transcript_exon_variant,,ENST00000506900,;	1057	188	185	SUCCESS
ZNF718	255403	.	GRCh37	4	156023	156023	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	27	0	ENST00000510175.1:n.1458C>A		p.*486*	ENST00000510175				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	CGCAACTCAAT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000510175	Transcript	.	.	ENSG00000250312	26889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF718	HGNC	.	.	.	SNV	ZNF718,non_coding_transcript_exon_variant,,ENST00000510175,;ZNF718,non_coding_transcript_exon_variant,,ENST00000502662,;ZNF718,non_coding_transcript_exon_variant,,ENST00000511079,;ZNF718,non_coding_transcript_exon_variant,,ENST00000400172,;	1458	27	26	SUCCESS
ZNF718	255403	.	GRCh37	4	156030	156030	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	25	0	ENST00000510175.1:n.1465T>A		p.*489*	ENST00000510175				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	CAATCTGTTCT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000510175	Transcript	.	.	ENSG00000250312	26889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF718	HGNC	.	.	.	SNV	ZNF718,non_coding_transcript_exon_variant,,ENST00000510175,;ZNF718,non_coding_transcript_exon_variant,,ENST00000502662,;ZNF718,non_coding_transcript_exon_variant,,ENST00000511079,;ZNF718,non_coding_transcript_exon_variant,,ENST00000400172,;	1465	25	25	SUCCESS
AC108142.1	0	.	GRCh37	4	183063407	183063407	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	12	0	ENST00000315302.2:n.1656A>T		p.*552*	ENST00000315302				0	.	.	.	.	.	A	.	antisense	YES	.	.	RADIA|MUTECT|MUSE	.	CTAGATTCTTC	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000315302	Transcript	.	.	ENSG00000177822	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AC108142.1	Clone_based_vega_gene	.	.	.	SNV	TENM3,upstream_gene_variant,,ENST00000512480,;AC108142.1,non_coding_transcript_exon_variant,,ENST00000315302,;AC108142.1,intron_variant,,ENST00000509012,;AC108142.1,intron_variant,,ENST00000513752,;RP11-402C9.1,upstream_gene_variant,,ENST00000505389,;AC108142.1,downstream_gene_variant,,ENST00000508968,;AC108142.1,downstream_gene_variant,,ENST00000505873,;AC108142.1,downstream_gene_variant,,ENST00000511052,;TENM3,upstream_gene_variant,,ENST00000513201,;	1656	12	12	SUCCESS
CHIC2	26511	.	GRCh37	4	54915246	54915246	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs374480856	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	84	172	0	ENST00000263921.3:c.206A>G	p.Asn69Ser	p.N69S	ENST00000263921	NM_012110.3	69	aAc/aGc	0	C:0	.	.	.	.	C	N/S	protein_coding	YES	CCDS3493.1	206	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTTGATG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13005:SF3,hmmpanther:PTHR13005,Pfam_domain:PF10256	.	C:0.0001	ENSP00000263921	.	3/6	.	.	.	.	.	.	.	.	rs374480856	3/6	PASS	ENST00000263921	Transcript	.	.	ENSG00000109220	1935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	CHIC2_HUMAN	CHIC2	HGNC	.	.	UPI0000072E65	SNV	CHIC2,missense_variant,p.Asn69Ser,ENST00000263921,;CHIC2,missense_variant,p.Asn69Ser,ENST00000510894,;CHIC2,missense_variant,p.Asn69Ser,ENST00000512964,;FIP1L1,intron_variant,,ENST00000507166,;CHIC2,non_coding_transcript_exon_variant,,ENST00000509678,;	596	172	195	SUCCESS
TMPRSS11D	9407	.	GRCh37	4	68693026	68693026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	69	131	1	ENST00000283916.6:c.905C>A	p.Pro302His	p.P302H	ENST00000283916	NM_004262.2	302	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS3518.1	905	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGGTGGA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF36,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494	.	.	ENSP00000283916	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000283916	Transcript	.	.	ENSG00000153802	24059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	tolerated(0.05)	.	TM11D_HUMAN	TMPRSS11D	HGNC	Q4W5K4_HUMAN,B4DL57_HUMAN	.	UPI000003FE66	SNV	TMPRSS11D,missense_variant,p.Pro185His,ENST00000545541,;TMPRSS11D,missense_variant,p.Pro302His,ENST00000283916,;TMPRSS11D,intron_variant,,ENST00000514868,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,downstream_gene_variant,,ENST00000502573,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000505533,;	1004	132	177	SUCCESS
CTNND2	1501	.	GRCh37	5	11159716	11159716	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	90	0	ENST00000304623.8:c.2131G>A	p.Val711Met	p.V711M	ENST00000304623	NM_001332.2	711	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS3881.1	2131	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACCTGTG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	deleterious(0.01)	.	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Val711Met,ENST00000304623,;CTNND2,missense_variant,p.Val711Met,ENST00000359640,;CTNND2,missense_variant,p.Val374Met,ENST00000503622,;CTNND2,missense_variant,p.Val620Met,ENST00000511377,;CTNND2,missense_variant,p.Val278Met,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Val465Met,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2321	91	104	SUCCESS
LOX	4015	.	GRCh37	5	121411127	121411127	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	84	192	0	ENST00000231004.4:c.850T>A	p.Tyr284Asn	p.Y284N	ENST00000231004	NM_002317.5	284	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS4129.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATATCTTG	NONE	.	.	Prints_domain:PR00074,Pfam_domain:PF01186,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF3	.	.	ENSP00000231004	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000231004	Transcript	.	.	ENSG00000113083	6664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.03)	.	LYOX_HUMAN	LOX	HGNC	D0PNI2_HUMAN,Q71V04_HUMAN,B7ZAJ4_HUMAN,B4DN04_HUMAN,B0AZT2_HUMAN	.	UPI000012EA87	SNV	LOX,missense_variant,p.Tyr284Asn,ENST00000231004,;SRFBP1,non_coding_transcript_exon_variant,,ENST00000504881,;LOX,non_coding_transcript_exon_variant,,ENST00000505593,;LOX,non_coding_transcript_exon_variant,,ENST00000513319,;LOX,3_prime_UTR_variant,,ENST00000508067,;LOX,non_coding_transcript_exon_variant,,ENST00000503759,;	1150	192	208	SUCCESS
PCDHGA12	26025	.	GRCh37	5	140811445	140811445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	34	61	0	ENST00000252085.3:c.1119C>A	p.Asp373Glu	p.D373E	ENST00000252085	NM_003735.2	373	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4260.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGACCAAGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000252085	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252085	Transcript	.	.	ENSG00000253159	8699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDGC_HUMAN	PCDHGA12	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073EA1	SNV	PCDHGA12,missense_variant,p.Asp373Glu,ENST00000252085,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	1261	61	70	SUCCESS
KIF4B	285643	.	GRCh37	5	154394947	154394947	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199913629	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	44	57	0	ENST00000435029.4:c.1528G>A	p.Ala510Thr	p.A510T	ENST00000435029	NM_001099293.1	510	Gct/Act	0	T:0	T:0	.	T:0	.	A	A/T	protein_coding	YES	CCDS47324.1	1528	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGCTTTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR24115:SF392,hmmpanther:PTHR24115	T:0	T:0.0006	ENSP00000387875	T:0.001	1/1	.	.	.	.	.	.	.	.	rs199913629	1/1	common_in_exac	ENST00000435029	Transcript	.	T:0.0002	ENSG00000226650	6322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	T:0	tolerated(0.3)	.	KIF4B_HUMAN	KIF4B	HGNC	.	.	UPI000013D5DB	SNV	KIF4B,missense_variant,p.Ala510Thr,ENST00000435029,;	1688	57	88	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33881413	33881415	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	53	45	93	0	ENST00000504830.1:c.298_300del	p.Lys100del	p.K100del	ENST00000504830	NM_030955.2	100	AAG/-	0	.	.	.	.	.	-	K/-	protein_coding	YES	CCDS34140.1	298-300	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGTCCTTCTCCT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF01562	.	.	ENSP00000422554	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	deletion	ADAMTS12,inframe_deletion,p.Lys100del,ENST00000515401,;ADAMTS12,inframe_deletion,p.Lys100del,ENST00000504830,;ADAMTS12,inframe_deletion,p.Lys100del,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000509762,;	634-636	93	98	SUCCESS
RAI14	26064	.	GRCh37	5	34807938	34807938	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763025731	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	88	178	1	ENST00000265109.3:c.355G>T	p.Gly119Trp	p.G119W	ENST00000265109	NM_015577.2	119	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS54839.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGGGAAA	NONE	byFrequency	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24129,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000427123	.	8/20	.	.	.	.	.	.	.	.	rs763025731	8/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,missense_variant,p.Gly119Trp,ENST00000508315,;RAI14,missense_variant,p.Gly112Trp,ENST00000397449,;RAI14,missense_variant,p.Gly119Trp,ENST00000514873,;RAI14,missense_variant,p.Gly119Trp,ENST00000428746,;RAI14,missense_variant,p.Gly119Trp,ENST00000512625,;RAI14,missense_variant,p.Gly119Trp,ENST00000514527,;RAI14,missense_variant,p.Gly119Trp,ENST00000265109,;RAI14,missense_variant,p.Gly111Trp,ENST00000506376,;RAI14,missense_variant,p.Gly122Trp,ENST00000515799,;RAI14,missense_variant,p.Gly119Trp,ENST00000513974,;RAI14,missense_variant,p.Gly119Trp,ENST00000503673,;RAI14,missense_variant,p.Gly119Trp,ENST00000512629,;RAI14,downstream_gene_variant,,ENST00000512305,;RAI14,downstream_gene_variant,,ENST00000504052,;RAI14,downstream_gene_variant,,ENST00000514036,;RAI14,non_coding_transcript_exon_variant,,ENST00000509247,;RAI14,non_coding_transcript_exon_variant,,ENST00000502736,;RAI14,non_coding_transcript_exon_variant,,ENST00000507276,;RAI14,3_prime_UTR_variant,,ENST00000508777,;RAI14,3_prime_UTR_variant,,ENST00000503222,;RAI14,3_prime_UTR_variant,,ENST00000510319,;	856	180	207	SUCCESS
PAPD7	0	.	GRCh37	5	6737736	6737736	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	99	239	0	ENST00000230859.6:c.80C>G	p.Pro27Arg	p.P27R	ENST00000230859	NM_001171805.1	27	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS3871.1	80	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCGACGG	NONE	.	.	Superfamily_domains:SSF81301,Pfam_domain:PF01909,Gene3D:3.30.460.10,hmmpanther:PTHR23092:SF24,hmmpanther:PTHR23092	.	.	ENSP00000230859	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000230859	Transcript	.	.	ENSG00000112941	16705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	PAPD7_HUMAN	PAPD7	HGNC	M1JCE6_HUMAN,D6RJD0_HUMAN,B7ZLL4_HUMAN,B4E0T3_HUMAN	.	UPI0000071E30	SNV	PAPD7,missense_variant,p.Pro27Arg,ENST00000230859,;PAPD7,missense_variant,p.Pro27Arg,ENST00000515721,;	209	239	257	SUCCESS
ZDHHC11	79844	.	GRCh37	5	850812	850812	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	12	0	ENST00000283441.8:c.-95G>T		p.*32*	ENST00000283441	NM_024786.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3857.1	.	MUTECT|MUSE	.	TGCAGCCGCCA	NONE	.	.	.	.	.	ENSP00000283441	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000283441	Transcript	.	.	ENSG00000188818	19158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZDH11_HUMAN	ZDHHC11	HGNC	.	.	UPI000013C384	SNV	ZDHHC11,5_prime_UTR_variant,,ENST00000283441,;ZDHHC11,upstream_gene_variant,,ENST00000511193,;ZDHHC11,upstream_gene_variant,,ENST00000424784,;ZDHHC11,upstream_gene_variant,,ENST00000512775,;ZDHHC11,upstream_gene_variant,,ENST00000508951,;BRD9,intron_variant,,ENST00000493082,;ZDHHC11,upstream_gene_variant,,ENST00000503880,;ZDHHC11,upstream_gene_variant,,ENST00000507800,;	290	12	23	SUCCESS
NCOA7	135112	.	GRCh37	6	126202239	126202239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	88	181	0	ENST00000368357.3:c.463C>A	p.Leu155Ile	p.L155I	ENST00000368357	NM_001199619.1	155	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS5132.1	463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCTTTTT	NONE	.	.	hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354,Pfam_domain:PF01476,Gene3D:3.10.350.10,SMART_domains:SM00257,Superfamily_domains:SSF54106	.	.	ENSP00000357341	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000368357	Transcript	.	.	ENSG00000111912	21081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.08)	.	NCOA7_HUMAN	NCOA7	HGNC	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN	.	UPI00001AE66D	SNV	NCOA7,missense_variant,p.Leu155Ile,ENST00000392477,;NCOA7,missense_variant,p.Leu51Ile,ENST00000229634,;NCOA7,missense_variant,p.Leu155Ile,ENST00000368357,;NCOA7,missense_variant,p.Leu155Ile,ENST00000417494,;NCOA7,upstream_gene_variant,,ENST00000413085,;	815	181	212	SUCCESS
GRM1	2911	.	GRCh37	6	146708066	146708066	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201399008	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	45	78	0	ENST00000282753.1:c.1643C>A	p.Thr548Lys	p.T548K	ENST00000282753	NM_001278067.1	548	aCg/aAg	0	T:0	.	.	.	.	A	T/K	protein_coding	YES	CCDS5209.1	1643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCACGGCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,PROSITE_patterns:PS00980,Pfam_domain:PF07562	.	T:0.0001	ENSP00000354896	.	7/9	.	.	.	.	.	.	.	.	rs201399008,CM113014,COSM396173,COSM1253782,COSM396174,COSM1253783	7/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	probably_damaging(0.993)	.	deleterious(0)	0,0,1,1,1,1	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,missense_variant,p.Thr548Lys,ENST00000282753,;GRM1,missense_variant,p.Thr548Lys,ENST00000392299,;GRM1,missense_variant,p.Thr548Lys,ENST00000361719,;GRM1,missense_variant,p.Thr548Lys,ENST00000507907,;GRM1,missense_variant,p.Thr548Lys,ENST00000355289,;GRM1,missense_variant,p.Thr548Lys,ENST00000492807,;	2113	78	112	SUCCESS
THBS2	7058	.	GRCh37	6	169639701	169639701	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	42	0	ENST00000366787.3:c.1122C>A	p.Cys374Ter	p.C374*	ENST00000366787	NM_003247.2	374	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS34574.1	1122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGCAGGA	NONE	.	.	PROSITE_profiles:PS50184,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000355751	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,stop_gained,p.Cys374Ter,ENST00000366787,;XXyac-YX65C7_A.2,downstream_gene_variant,,ENST00000444188,;THBS2,upstream_gene_variant,,ENST00000461848,;	1372	42	30	SUCCESS
HIST1H3B	0	.	GRCh37	6	26032226	26032226	+	synonymous_variant	Silent	SNP	C	C	A	rs756606482	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	33	0	ENST00000244661.2:c.63G>T	p.Leu21=	p.L21=	ENST00000244661	NM_003537.3	21	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4573.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCCAGCTG	NONE	byFrequency	.	hmmpanther:PTHR11426,PROSITE_patterns:PS00322,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000244661	.	1/1	.	.	.	.	.	.	.	.	rs756606482	1/1	PASS	ENST00000244661	Transcript	.	.	ENSG00000124693	4776	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3B	HGNC	.	.	UPI00000003C7	SNV	HIST1H3B,synonymous_variant,p.%3D,ENST00000244661,;HIST1H2AB,downstream_gene_variant,,ENST00000259791,;HIST1H4B,upstream_gene_variant,,ENST00000377364,;	63	33	44	SUCCESS
CRIP3	401262	.	GRCh37	6	43273742	43273763	+	frameshift_variant	Frame_Shift_Del	DEL	CATGTACATGCCATACTTCAGG	CATGTACATGCCATACTTCAGG	-	rs779898788	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	CATGTACATGCCATACTTCAGG	CATGTACATGCCATACTTCAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	49	0	ENST00000274990.4:c.595_616del	p.Pro199ValfsTer24	p.P199Vfs*24	ENST00000274990		199	CCTGAAGTATGGCATGTACATGgt/gt	0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4894.2	.	INDELOCATOR|VARSCANI	.	ACAGACCATGTACATGCCATACTTCAGGCATGT	CODON|p.E200*|c.598G>T|5	.	.	.	.	.	ENSP00000361650	.	.	.	.	.	.	.	.	.	.	rs779898788	.	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	deletion	CRIP3,frameshift_variant,p.Pro199ValfsTer24,ENST00000274990,;CRIP3,intron_variant,,ENST00000451294,;CRIP3,intron_variant,,ENST00000416431,;CRIP3,intron_variant,,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,intron_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000487744,;CRIP3,downstream_gene_variant,,ENST00000485819,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	.	49	51	SUCCESS
KCNQ5	56479	.	GRCh37	6	73331992	73331992	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	10	0	ENST00000370398.1:c.75G>T	p.Ala25=	p.A25=	ENST00000370398	NM_019842.3	25	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS55034.1	75	SOMATICSNIPER|MUTECT|MUSE	.	GCGGCGGCGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000345055	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000342056	Transcript	.	.	ENSG00000185760	6299	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	KCNQ5	HGNC	A6PVT6_HUMAN	.	UPI000155D644	SNV	KCNQ5,synonymous_variant,p.%3D,ENST00000370392,;KCNQ5,synonymous_variant,p.%3D,ENST00000402622,;KCNQ5,synonymous_variant,p.%3D,ENST00000370398,;KCNQ5,synonymous_variant,p.%3D,ENST00000414165,;KCNQ5,synonymous_variant,p.%3D,ENST00000403813,;KCNQ5,synonymous_variant,p.%3D,ENST00000342056,;KCNQ5,synonymous_variant,p.%3D,ENST00000355194,;KCNQ5,synonymous_variant,p.%3D,ENST00000355635,;	473	10	13	SUCCESS
CNR1	1268	.	GRCh37	6	88854612	88854612	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	49	0	ENST00000369499.2:c.382A>T	p.Thr128Ser	p.T128S	ENST00000369499		128	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS5015.1	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTGCCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF10,Gene3D:1.20.1070.10,PIRSF_domain:PIRSF037995,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00362	.	.	ENSP00000441046	.	2/2	.	.	.	.	.	.	.	.	COSM347335	2/2	PASS	ENST00000537554	Transcript	.	.	ENSG00000118432	2159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.942)	.	tolerated(0.67)	1	CNR1_HUMAN	CNR1	HGNC	S5TLS4_HUMAN,Q9BYY6_HUMAN,F8W187_HUMAN	.	UPI00000008AA	SNV	CNR1,missense_variant,p.Thr128Ser,ENST00000369499,;CNR1,missense_variant,p.Thr128Ser,ENST00000428600,;CNR1,missense_variant,p.Thr128Ser,ENST00000535130,;CNR1,missense_variant,p.Thr67Ser,ENST00000549716,;CNR1,missense_variant,p.Thr128Ser,ENST00000369501,;CNR1,missense_variant,p.Thr95Ser,ENST00000468898,;CNR1,missense_variant,p.Thr128Ser,ENST00000537554,;CNR1,missense_variant,p.Thr128Ser,ENST00000549890,;CNR1,3_prime_UTR_variant,,ENST00000362094,;CNR1,downstream_gene_variant,,ENST00000551417,;	3945	49	66	SUCCESS
CCDC136	64753	.	GRCh37	7	128449530	128449530	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	86	138	1	ENST00000297788.4:c.1632A>G	p.Thr544=	p.T544=	ENST00000297788	NM_022742.4	544	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS47704.1	1632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACAGAATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,synonymous_variant,p.%3D,ENST00000297788,;CCDC136,synonymous_variant,p.%3D,ENST00000494552,;CCDC136,synonymous_variant,p.%3D,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,non_coding_transcript_exon_variant,,ENST00000460941,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000485832,;	1999	139	103	SUCCESS
ESYT2	57488	.	GRCh37	7	158540904	158540904	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs755282073	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	50	97	0	ENST00000251527.5:c.1706G>A	p.Arg569His	p.R569H	ENST00000251527	NM_020728.2	569	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34791.1	1706	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGCTTG	NONE	byFrequency	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF6,PROSITE_profiles:PS50004	.	.	ENSP00000251527	.	15/22	.	.	.	.	.	.	.	.	rs755282073	15/22	PASS	ENST00000251527	Transcript	.	.	ENSG00000117868	22211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.08)	.	ESYT2_HUMAN	ESYT2	HGNC	.	.	UPI00002339BD	SNV	ESYT2,missense_variant,p.Arg569His,ENST00000251527,;ESYT2,missense_variant,p.Arg560His,ENST00000275418,;ESYT2,upstream_gene_variant,,ENST00000435514,;	1772	97	61	SUCCESS
IQCE	23288	.	GRCh37	7	2649728	2649728	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760012088	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	33	62	0	ENST00000402050.2:c.2020G>A	p.Val674Ile	p.V674I	ENST00000402050	NM_152558.3	674	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS43542.1	2020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGTCAAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22590	.	.	ENSP00000385597	.	22/22	.	.	.	.	.	.	.	.	rs760012088	22/22	PASS	ENST00000402050	Transcript	.	.	ENSG00000106012	29171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	tolerated(0.33)	.	IQCE_HUMAN	IQCE	HGNC	C9JX25_HUMAN,C9JP75_HUMAN	.	UPI000020E9EF	SNV	IQCE,missense_variant,p.Val623Ile,ENST00000404984,;IQCE,missense_variant,p.Val674Ile,ENST00000402050,;IQCE,missense_variant,p.Val609Ile,ENST00000325979,;IQCE,missense_variant,p.Val658Ile,ENST00000438376,;IQCE,downstream_gene_variant,,ENST00000423196,;IQCE,downstream_gene_variant,,ENST00000486730,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,downstream_gene_variant,,ENST00000476665,;	2204	62	87	SUCCESS
EIF2AK1	27102	.	GRCh37	7	6098816	6098816	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	10	0	ENST00000199389.6:c.-102G>T		p.*34*	ENST00000199389	NM_001134335.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5345.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACCAGAC	NONE	.	.	.	.	.	ENSP00000199389	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000199389	Transcript	.	.	ENSG00000086232	24921	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2AK1_HUMAN	EIF2AK1	HGNC	Q75MR0_HUMAN	.	UPI0000161BAE	SNV	EIF2AK1,5_prime_UTR_variant,,ENST00000199389,;EIF2AK1,upstream_gene_variant,,ENST00000536084,;EIF2AK1,upstream_gene_variant,,ENST00000446699,;RNU6-218P,downstream_gene_variant,,ENST00000517120,;EIF2AK1,upstream_gene_variant,,ENST00000461493,;EIF2AK1,upstream_gene_variant,,ENST00000431744,;EIF2AK1,upstream_gene_variant,,ENST00000463213,;	46	10	20	SUCCESS
RGS22	26166	.	GRCh37	8	100999806	100999806	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	20	26	1	ENST00000360863.6:c.3060T>C	p.Ile1020=	p.I1020=	ENST00000360863	NM_015668.3	1020	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS43758.1	3060	SOMATICSNIPER|VARSCANS	.	AAAGCAATGAT	NONE	.	.	hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845	.	.	ENSP00000354109	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,synonymous_variant,p.%3D,ENST00000523287,;RGS22,synonymous_variant,p.%3D,ENST00000523437,;RGS22,synonymous_variant,p.%3D,ENST00000360863,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;	3255	27	22	SUCCESS
ABRA	137735	.	GRCh37	8	107782252	107782252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	92	183	1	ENST00000311955.3:c.167C>A	p.Thr56Asn	p.T56N	ENST00000311955	NM_139166.4	56	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS6305.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGTCCCT	NONE	.	.	hmmpanther:PTHR22739:SF7,hmmpanther:PTHR22739	.	.	ENSP00000311436	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000311955	Transcript	.	.	ENSG00000174429	30655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.512)	.	tolerated(0.36)	.	ABRA_HUMAN	ABRA	HGNC	.	.	UPI000006F0DE	SNV	ABRA,missense_variant,p.Thr56Asn,ENST00000311955,;	222	185	114	SUCCESS
USP17L2	377630	.	GRCh37	8	11995788	11995788	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs3885220	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	12	0	ENST00000333796.3:c.482C>T	p.Ala161Val	p.A161V	ENST00000333796	NM_201402.2	161	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43713.1	482	RADIA|VARSCANS	.	CATGGGCATCT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000333329	.	1/1	.	.	.	.	.	.	.	.	COSM748496	1/1	PASS	ENST00000333796	Transcript	.	.	ENSG00000223443	34434	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	U17L2_HUMAN	USP17L2	HGNC	.	.	UPI0000198137	SNV	USP17L2,missense_variant,p.Ala161Val,ENST00000333796,;FAM66D,intron_variant,,ENST00000434078,;USP17L7,upstream_gene_variant,,ENST00000530447,;USP17L7,upstream_gene_variant,,ENST00000416902,;	799	12	16	SUCCESS
DENND3	22898	.	GRCh37	8	142151480	142151480	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	15	22	0	ENST00000262585.2:c.383+57A>T		p.*128*	ENST00000262585	NM_014957.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34947.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTCCAGGTGA	NONE	.	.	.	.	.	ENSP00000262585	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	MODIFIER	4/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,3_prime_UTR_variant,,ENST00000518347,;DENND3,intron_variant,,ENST00000519811,;DENND3,intron_variant,,ENST00000424248,;DENND3,intron_variant,,ENST00000262585,;DENND3,intron_variant,,ENST00000518668,;DENND3,intron_variant,,ENST00000523058,;DENND3,intron_variant,,ENST00000518249,;DENND3,intron_variant,,ENST00000520986,;DENND3,downstream_gene_variant,,ENST00000519291,;DENND3,3_prime_UTR_variant,,ENST00000518198,;DENND3,upstream_gene_variant,,ENST00000523015,;	.	22	18	SUCCESS
HR	55806	.	GRCh37	8	21986325	21986325	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	39	58	0	ENST00000381418.4:c.359G>C	p.Gly120Ala	p.G120A	ENST00000381418	NM_005144.4	120	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS6022.1	359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCACAG	NONE	.	.	hmmpanther:PTHR12549:SF4,hmmpanther:PTHR12549	.	.	ENSP00000370826	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000381418	Transcript	1	.	ENSG00000168453	5172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious_low_confidence(0.02)	.	HAIR_HUMAN	HR	HGNC	E5RK80_HUMAN	.	UPI000013EB0B	SNV	HR,missense_variant,p.Gly120Ala,ENST00000381418,;HR,missense_variant,p.Gly120Ala,ENST00000312841,;HR,upstream_gene_variant,,ENST00000519619,;HR,downstream_gene_variant,,ENST00000518377,;HR,non_coding_transcript_exon_variant,,ENST00000522759,;	1840	58	50	SUCCESS
PNMA2	10687	.	GRCh37	8	26365742	26365742	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	34	65	0	ENST00000522362.2:c.530A>T	p.Glu177Val	p.E177V	ENST00000522362	NM_007257.5	177	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS34868.1	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTCTGGG	NONE	.	.	hmmpanther:PTHR23095:SF16,hmmpanther:PTHR23095,Pfam_domain:PF14893	.	.	ENSP00000429344	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000522362	Transcript	.	.	ENSG00000240694	9159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.518)	.	deleterious(0.01)	.	PNMA2_HUMAN	PNMA2	HGNC	.	.	UPI0000073D3F	SNV	PNMA2,missense_variant,p.Glu177Val,ENST00000522362,;BNIP3L,downstream_gene_variant,,ENST00000523949,;PNMA2,downstream_gene_variant,,ENST00000521740,;PNMA2,downstream_gene_variant,,ENST00000522450,;PNMA2,downstream_gene_variant,,ENST00000523244,;PNMA2,downstream_gene_variant,,ENST00000522764,;PNMA2,downstream_gene_variant,,ENST00000518212,;PNMA2,downstream_gene_variant,,ENST00000521875,;PNMA2,downstream_gene_variant,,ENST00000523616,;	1425	65	41	SUCCESS
FAM110B	90362	.	GRCh37	8	59059022	59059022	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	37	0	ENST00000361488.3:c.233C>T	p.Ala78Val	p.A78V	ENST00000361488	NM_147189.2	78	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6170.1	233	MUTECT|MUSE	.	GCCCGCCGTGC	NONE	.	.	Pfam_domain:PF14161,hmmpanther:PTHR14758,hmmpanther:PTHR14758:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000355204	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361488	Transcript	.	.	ENSG00000169122	28587	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.037)	.	tolerated(0.78)	.	F110B_HUMAN	FAM110B	HGNC	.	.	UPI000006E853	SNV	FAM110B,missense_variant,p.Ala78Val,ENST00000361488,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,intron_variant,,ENST00000520369,;FAM110B,downstream_gene_variant,,ENST00000521413,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000519262,;	1113	37	33	SUCCESS
SETX	23064	.	GRCh37	9	135176017	135176017	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	62	152	0	ENST00000224140.5:c.5548A>G	p.Met1850Val	p.M1850V	ENST00000224140	NM_015046.5	1850	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS6947.1	5548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACTGACTG	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336	.	.	ENSP00000224140	.	12/26	.	.	.	.	.	.	.	.	.	12/26	PASS	ENST00000224140	Transcript	.	.	ENSG00000107290	445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.51)	.	SETX_HUMAN	SETX	HGNC	.	.	UPI0000210D28	SNV	SETX,missense_variant,p.Met1850Val,ENST00000372169,;SETX,missense_variant,p.Met92Val,ENST00000436441,;SETX,missense_variant,p.Met1850Val,ENST00000393220,;SETX,missense_variant,p.Met1850Val,ENST00000224140,;	5731	152	166	SUCCESS
COL5A1	1289	.	GRCh37	9	137715262	137715262	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	45	103	0	ENST00000371817.3:c.4645G>A	p.Gly1549Ser	p.G1549S	ENST00000371817	NM_001278074.1	1549	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS6982.1	4645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGGTCCA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	.	ENSP00000360882	.	61/66	.	.	.	.	.	.	.	.	COSM3655476	61/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	1	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Gly1549Ser,ENST00000371817,;COL5A1,upstream_gene_variant,,ENST00000371820,;COL5A1,splice_region_variant,,ENST00000460264,;COL5A1,upstream_gene_variant,,ENST00000465877,;	5059	103	127	SUCCESS
CACNA1B	774	.	GRCh37	9	140865851	140865851	+	synonymous_variant	Silent	SNP	C	C	T	rs201843778	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	35	61	0	ENST00000371372.1:c.1350C>T	p.Arg450=	p.R450=	ENST00000371372	NM_001243812.1	450	cgC/cgT	0	T:0.0005	.	.	.	.	T	R	protein_coding	YES	CCDS59522.1	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGCGCCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037	.	T:0	ENSP00000360423	.	11/47	.	.	.	.	.	.	.	.	rs201843778	11/47	PASS	ENST00000371372	Transcript	.	.	ENSG00000148408	1389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1B_HUMAN	CACNA1B	HGNC	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN	.	UPI0000127267	SNV	CACNA1B,synonymous_variant,p.%3D,ENST00000371355,;CACNA1B,synonymous_variant,p.%3D,ENST00000371357,;CACNA1B,synonymous_variant,p.%3D,ENST00000277551,;CACNA1B,synonymous_variant,p.%3D,ENST00000371363,;CACNA1B,synonymous_variant,p.%3D,ENST00000371372,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;	1495	61	78	SUCCESS
GRIA3	2892	.	GRCh37	X	122538600	122538600	+	synonymous_variant	Silent	SNP	G	G	T	rs752350148	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	93	108	1	ENST00000541091.1:c.1287G>T	p.Leu429=	p.L429=	ENST00000541091		429	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14604.1	1335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGGAAGG	NONE	byFrequency	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,SMART_domains:SM00918,Pfam_domain:PF10613,Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	10/16	.	.	.	.	.	.	.	.	rs752350148	10/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,synonymous_variant,p.%3D,ENST00000371256,;GRIA3,synonymous_variant,p.%3D,ENST00000542149,;GRIA3,synonymous_variant,p.%3D,ENST00000264357,;GRIA3,synonymous_variant,p.%3D,ENST00000541091,;GRIA3,synonymous_variant,p.%3D,ENST00000371251,;	1627	109	113	SUCCESS
GRIA3	2892	.	GRCh37	X	122538601	122538601	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	94	106	1	ENST00000541091.1:c.1288G>T	p.Glu430Ter	p.E430*	ENST00000541091		430	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14604.1	1336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGAAGGA	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,SMART_domains:SM00918,Pfam_domain:PF10613,Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	10/16	.	.	.	.	.	.	.	.	COSM1715483,COSM1715485,COSM1715484,COSM3557390	10/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	.	.	.	1,1,1,1	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,stop_gained,p.Glu446Ter,ENST00000371256,;GRIA3,stop_gained,p.Glu446Ter,ENST00000542149,;GRIA3,stop_gained,p.Glu446Ter,ENST00000264357,;GRIA3,stop_gained,p.Glu430Ter,ENST00000541091,;GRIA3,stop_gained,p.Glu446Ter,ENST00000371251,;	1628	107	114	SUCCESS
ERCC6L	54821	.	GRCh37	X	71426314	71426314	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1428388180	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	93	88	0	ENST00000334463.3:c.2303T>C	p.Ile768Thr	p.I768T	ENST00000334463	NM_017669.2	768	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS35329.1	2303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGATATCT	NONE	.	.	hmmpanther:PTHR10799:SF67,hmmpanther:PTHR10799	.	.	ENSP00000334675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334463	Transcript	.	.	ENSG00000186871	20794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0.04)	.	ERC6L_HUMAN	ERCC6L	HGNC	B5MDQ0_HUMAN	.	UPI000021233E	SNV	ERCC6L,missense_variant,p.Ile645Thr,ENST00000373657,;ERCC6L,missense_variant,p.Ile768Thr,ENST00000334463,;PIN4,intron_variant,,ENST00000423432,;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;	2439	88	107	SUCCESS
CHUK	1147	.	GRCh37	10	101989281	101989281	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	19	0	ENST00000370397.7:c.9G>T	p.Arg3=	p.R3=	ENST00000370397	NM_001278.3	3	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS7488.1	9	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGGGCCGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13	.	.	ENSP00000359424	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	SNV	CHUK,synonymous_variant,p.%3D,ENST00000370397,;CWF19L1,downstream_gene_variant,,ENST00000370379,;CWF19L1,downstream_gene_variant,,ENST00000354105,;RP11-316M21.6,upstream_gene_variant,,ENST00000444359,;CWF19L1,downstream_gene_variant,,ENST00000468709,;CWF19L1,downstream_gene_variant,,ENST00000482452,;CWF19L1,downstream_gene_variant,,ENST00000478047,;	96	19	16	SUCCESS
GSTO1	9446	.	GRCh37	10	106025865	106025865	+	synonymous_variant	Silent	SNP	C	C	T	rs762022730	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	120	0	ENST00000369713.5:c.489C>T	p.Thr163=	p.T163=	ENST00000369713	NM_004832.2	163	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS7555.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGACCTTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF132,hmmpanther:PTHR11260,Pfam_domain:PF00043,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616	.	.	ENSP00000358727	.	5/6	.	.	.	.	.	.	.	.	rs762022730	5/6	PASS	ENST00000369713	Transcript	.	.	ENSG00000148834	13312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTO1_HUMAN	GSTO1	HGNC	Q5TA02_HUMAN	.	UPI00000465CE	SNV	GSTO1,synonymous_variant,p.%3D,ENST00000432659,;GSTO1,synonymous_variant,p.%3D,ENST00000539281,;GSTO1,synonymous_variant,p.%3D,ENST00000369713,;GSTO1,synonymous_variant,p.%3D,ENST00000369710,;GSTO1,synonymous_variant,p.%3D,ENST00000445155,;GSTO2,upstream_gene_variant,,ENST00000338595,;GSTO2,upstream_gene_variant,,ENST00000450629,;MIR4482-1,downstream_gene_variant,,ENST00000583050,;GSTO1,non_coding_transcript_exon_variant,,ENST00000493946,;	683	120	96	SUCCESS
SLC17A6	57084	.	GRCh37	11	22359982	22359982	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs189967211	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	29	0	ENST00000263160.3:c.-98G>C		p.*33*	ENST00000263160	NM_020346.2			0	.	T:0.0068	.	T:0	.	C	.	protein_coding	YES	CCDS7856.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGCAACT	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000263160	T:0	1/12	.	.	.	.	.	.	.	.	rs189967211	1/12	PASS	ENST00000263160	Transcript	.	T:0.0018	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,5_prime_UTR_variant,,ENST00000263160,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	340	29	24	SUCCESS
OR5M1	390168	.	GRCh37	11	56380259	56380259	+	synonymous_variant	Silent	SNP	C	C	T	rs1278658497	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	45	116	0	ENST00000526538.1:c.720G>A	p.Thr240=	p.T240=	ENST00000526538	NM_001004740.1	240	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS53631.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACACGTAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000435416	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526538	Transcript	.	.	ENSG00000255012	8352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5M1_HUMAN	OR5M1	HGNC	.	.	UPI0000041C9B	SNV	OR5M1,synonymous_variant,p.%3D,ENST00000526538,;	720	116	102	SUCCESS
RASGRP2	10235	.	GRCh37	11	64496461	64496461	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757961182	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	16	0	ENST00000354024.3:c.1645C>T	p.Arg549Trp	p.R549W	ENST00000354024	NM_153819.1	549	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31598.1	1645	MUTECT|MUSE	.	GCGCCGACACT	NONE	byFrequency	.	Superfamily_domains:SSF57889,Gene3D:3.30.60.20,Pfam_domain:PF00130	.	.	ENSP00000338864	.	15/17	.	.	.	.	.	.	.	.	rs757961182	15/17	PASS	ENST00000354024	Transcript	.	.	ENSG00000068831	9879	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GRP2_HUMAN	RASGRP2	HGNC	Q2YDB1_HUMAN,E7EM78_HUMAN,C9JZ82_HUMAN,A6NHE2_HUMAN	.	UPI0000161186	SNV	RASGRP2,missense_variant,p.Arg549Trp,ENST00000354024,;RASGRP2,missense_variant,p.Arg549Trp,ENST00000394432,;RASGRP2,missense_variant,p.Arg549Trp,ENST00000377494,;RASGRP2,missense_variant,p.Arg549Trp,ENST00000377497,;RASGRP2,3_prime_UTR_variant,,ENST00000421556,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000464324,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000488071,;RASGRP2,downstream_gene_variant,,ENST00000494001,;	1898	16	14	SUCCESS
ARAP1	116985	.	GRCh37	11	72406835	72406836	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TGGGA	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	54	0	ENST00000393609.3:c.3347_3348insTCCCA	p.Gln1116HisfsTer44	p.Q1116Hfs*44	ENST00000393609	NM_001040118.2	1116	cag/caTCCCAg	0	.	.	.	.	.	TGGGA	Q/HPX	protein_coding	YES	CCDS41687.1	3347-3348	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGTCTGGAA	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR23180:SF195,hmmpanther:PTHR23180,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000377233	.	24/35	.	.	.	.	.	.	.	.	.	24/35	PASS	ENST00000393609	Transcript	.	.	ENSG00000186635	16925	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARAP1_HUMAN	ARAP1	HGNC	F8WBT0_HUMAN,F5GWN4_HUMAN	.	UPI000053F81B	insertion	ARAP1,frameshift_variant,p.Gln871HisfsTer44,ENST00000334211,;ARAP1,frameshift_variant,p.Gln1116HisfsTer44,ENST00000455638,;ARAP1,frameshift_variant,p.Gln871HisfsTer44,ENST00000426523,;ARAP1,frameshift_variant,p.Gln1116HisfsTer44,ENST00000393609,;ARAP1,frameshift_variant,p.Gln810HisfsTer44,ENST00000429686,;ARAP1,frameshift_variant,p.Gln1116HisfsTer44,ENST00000359373,;ARAP1,frameshift_variant,p.Gln876HisfsTer44,ENST00000393605,;ARAP1,downstream_gene_variant,,ENST00000427971,;ARAP1,downstream_gene_variant,,ENST00000452383,;ARAP1,upstream_gene_variant,,ENST00000542596,;ARAP1-AS2,upstream_gene_variant,,ENST00000500163,;ARAP1-AS1,downstream_gene_variant,,ENST00000542022,;ARAP1,non_coding_transcript_exon_variant,,ENST00000495878,;ARAP1,upstream_gene_variant,,ENST00000544958,;ARAP1,non_coding_transcript_exon_variant,,ENST00000546293,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;ARAP1,upstream_gene_variant,,ENST00000543868,;ARAP1,upstream_gene_variant,,ENST00000536993,;	3550-3551	54	41	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73020542	73020542	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	28	0	ENST00000263674.3:c.859C>T	p.His287Tyr	p.H287Y	ENST00000263674	NM_014786.3	287	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS8221.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCACCGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000263674	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	deleterious_low_confidence(0.01)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.His287Tyr,ENST00000263674,;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,;	1209	28	24	SUCCESS
DDX47	51202	.	GRCh37	12	12980267	12980267	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746931724	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	94	1	ENST00000358007.3:c.1194G>A	p.Met398Ile	p.M398I	ENST00000358007	NM_016355.3	398	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS8655.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGCTGAC	NONE	.	.	hmmpanther:PTHR24031:SF78,hmmpanther:PTHR24031	.	.	ENSP00000350698	.	11/12	.	.	.	.	.	.	.	.	rs746931724	11/12	PASS	ENST00000358007	Transcript	.	.	ENSG00000213782	18682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.36)	.	DDX47_HUMAN	DDX47	HGNC	Q7Z4B1_HUMAN,A4UCU0_HUMAN	.	UPI0000037B84	SNV	DDX47,missense_variant,p.Met398Ile,ENST00000358007,;DDX47,missense_variant,p.Met349Ile,ENST00000352940,;DDX47,downstream_gene_variant,,ENST00000544400,;DDX47,downstream_gene_variant,,ENST00000542832,;APOLD1,3_prime_UTR_variant,,ENST00000534843,;DDX47,non_coding_transcript_exon_variant,,ENST00000542123,;DDX47,non_coding_transcript_exon_variant,,ENST00000545038,;DDX47,downstream_gene_variant,,ENST00000541537,;DDX47,downstream_gene_variant,,ENST00000535722,;	1216	95	68	SUCCESS
KRT85	3891	.	GRCh37	12	52754698	52754698	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	38	0	ENST00000257901.3:c.1463C>T	p.Pro488Leu	p.P488L	ENST00000257901	NM_002283.3	488	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8824.1	1463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGGGCA	NONE	.	.	hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239	.	.	ENSP00000257901	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000257901	Transcript	.	.	ENSG00000135443	6462	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.11)	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,missense_variant,p.Pro276Leu,ENST00000544265,;KRT85,missense_variant,p.Pro488Leu,ENST00000257901,;KRT85,downstream_gene_variant,,ENST00000552537,;	1539	38	38	SUCCESS
KRT82	3888	.	GRCh37	12	52793926	52793926	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	38	0	ENST00000257974.2:c.785G>A	p.Cys262Tyr	p.C262Y	ENST00000257974	NM_033033.3	262	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS8826.1	785	MUTECT|MUSE	.	GCAGGCAGATC	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF151,hmmpanther:PTHR23239	.	.	ENSP00000257974	.	5/9	.	.	.	.	.	.	.	.	COSM1676981	5/9	PASS	ENST00000257974	Transcript	.	.	ENSG00000161850	6459	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.002)	.	tolerated(0.79)	1	KRT82_HUMAN	KRT82	HGNC	.	.	UPI000013CFA4	SNV	KRT82,missense_variant,p.Cys262Tyr,ENST00000257974,;RP3-416H24.4,intron_variant,,ENST00000547174,;	863	38	40	SUCCESS
OR9K2	441639	.	GRCh37	12	55524501	55524501	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	50	122	0	ENST00000305377.5:c.949A>G	p.Asn317Asp	p.N317D	ENST00000305377	NM_001005243.1	317	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS31814.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGAACAAA	NONE	.	.	hmmpanther:PTHR26452:SF110,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000307598	.	1/1	.	.	.	.	.	.	.	.	COSM3700299	1/1	PASS	ENST00000305377	Transcript	.	.	ENSG00000170605	15339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.984)	.	deleterious(0)	1	OR9K2_HUMAN	OR9K2	HGNC	.	.	UPI00003B287B	SNV	OR9K2,missense_variant,p.Asn317Asp,ENST00000305377,;	1037	122	126	SUCCESS
GRIP1	23426	.	GRCh37	12	66856725	66856725	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	36	89	0	ENST00000359742.4:c.1021G>C	p.Ala341Pro	p.A341P	ENST00000359742		341	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS41807.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGCCAGCC	NONE	.	.	hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316	.	.	ENSP00000381098	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.68)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Ala162Pro,ENST00000543172,;GRIP1,missense_variant,p.Ala341Pro,ENST00000538211,;GRIP1,missense_variant,p.Ala156Pro,ENST00000538164,;GRIP1,missense_variant,p.Ala341Pro,ENST00000286445,;GRIP1,missense_variant,p.Ala285Pro,ENST00000536215,;GRIP1,missense_variant,p.Ala341Pro,ENST00000398016,;GRIP1,missense_variant,p.Ala341Pro,ENST00000359742,;GRIP1,missense_variant,p.Ala285Pro,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,intron_variant,,ENST00000535002,;	1090	89	95	SUCCESS
SOX21	11166	.	GRCh37	13	95363707	95363707	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	22	0	ENST00000376945.2:c.597C>T	p.Thr199=	p.T199=	ENST00000376945	NM_007084.2	199	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9473.1	597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGGTCGG	NONE	.	.	hmmpanther:PTHR10270:SF207,hmmpanther:PTHR10270	.	.	ENSP00000366144	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000376945	Transcript	.	.	ENSG00000125285	11197	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX21_HUMAN	SOX21	HGNC	.	.	UPI000003F547	SNV	SOX21,synonymous_variant,p.%3D,ENST00000376945,;SOX21-AS1,upstream_gene_variant,,ENST00000438290,;	683	22	15	SUCCESS
RNASE1	6035	.	GRCh37	14	21269973	21269973	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	61	118	0	ENST00000340900.3:c.255C>T	p.Val85=	p.V85=	ENST00000340900	NM_198234.2	85	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS9559.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGACATT	NONE	.	.	hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF24,Pfam_domain:PF00074,Gene3D:3.10.130.10,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794	.	.	ENSP00000381057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397967	Transcript	.	.	ENSG00000129538	10044	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNAS1_HUMAN	RNASE1	HGNC	G3V357_HUMAN	.	UPI000013448E	SNV	RNASE1,synonymous_variant,p.%3D,ENST00000340900,;RNASE1,synonymous_variant,p.%3D,ENST00000397970,;RNASE1,synonymous_variant,p.%3D,ENST00000412779,;RNASE1,synonymous_variant,p.%3D,ENST00000397967,;RNASE1,synonymous_variant,p.%3D,ENST00000555698,;	762	118	124	SUCCESS
C15orf60	0	.	GRCh37	15	73766189	73766189	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	64	0	ENST00000331090.6:c.176A>C	p.Glu59Ala	p.E59A	ENST00000331090	NM_001042367.1	59	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS45296.1	176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGAAGAAT	NONE	.	.	Pfam_domain:PF15165	.	.	ENSP00000328423	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000331090	Transcript	.	.	ENSG00000183324	25065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	deleterious(0)	.	R114L_HUMAN	C15orf60	HGNC	.	.	UPI0000161A3A	SNV	C15orf60,missense_variant,p.Glu59Ala,ENST00000331090,;C15orf60,missense_variant,p.Glu59Ala,ENST00000560581,;	204	64	81	SUCCESS
SH2D7	646892	.	GRCh37	15	78384952	78384952	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	28	0	ENST00000328828.5:c.26G>T	p.Ser9Ile	p.S9I	ENST00000328828	NM_001101404.1	9	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS45315.1	26	RADIA|SOMATICSNIPER	.	GCTCAGCCTGG	NONE	.	.	hmmpanther:PTHR14388,hmmpanther:PTHR14388:SF6	.	.	ENSP00000327846	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000328828	Transcript	.	.	ENSG00000183476	34549	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.483)	.	tolerated(0.2)	.	SH2D7_HUMAN	SH2D7	HGNC	B8ZZB5_HUMAN	.	UPI00006C15D7	SNV	SH2D7,missense_variant,p.Ser9Ile,ENST00000328828,;SH2D7,intron_variant,,ENST00000409568,;SNORA63,upstream_gene_variant,,ENST00000362763,;	26	28	20	SUCCESS
IFT140	9742	.	GRCh37	16	1630796	1630796	+	synonymous_variant	Silent	SNP	C	C	T	rs1383563444	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	75	0	ENST00000426508.2:c.1488G>A	p.Thr496=	p.T496=	ENST00000426508	NM_014714.3	496	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10439.1	1488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCGTGTA	NONE	.	.	hmmpanther:PTHR15722	.	.	ENSP00000406012	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000426508	Transcript	.	.	ENSG00000187535	29077	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF140_HUMAN	IFT140	HGNC	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN	.	UPI0000073C64	SNV	IFT140,synonymous_variant,p.%3D,ENST00000426508,;LA16c-395F10.2,intron_variant,,ENST00000563162,;LA16c-425C2.1,upstream_gene_variant,,ENST00000568149,;IFT140,non_coding_transcript_exon_variant,,ENST00000439987,;IFT140,3_prime_UTR_variant,,ENST00000397417,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;	1852	75	57	SUCCESS
TRIM72	493829	.	GRCh37	16	31235616	31235616	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	39	0	ENST00000322122.3:c.974C>T	p.Pro325Leu	p.P325L	ENST00000322122	NM_001008274.3	325	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32437.1	974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCGCGCC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF11,hmmpanther:PTHR24103,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899	.	.	ENSP00000312675	.	7/7	.	.	.	.	.	.	.	.	COSM1290515,COSM1290514	7/7	PASS	ENST00000322122	Transcript	.	.	ENSG00000177238	32671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.71)	.	deleterious(0)	1,1	TRI72_HUMAN	TRIM72	HGNC	.	.	UPI00001FFF74	SNV	TRIM72,missense_variant,p.Pro325Leu,ENST00000322122,;RP11-388M20.9,upstream_gene_variant,,ENST00000576745,;	1258	39	35	SUCCESS
ITGAD	3681	.	GRCh37	16	31419205	31419205	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	53	0	ENST00000389202.2:c.977A>G	p.Lys326Arg	p.K326R	ENST00000389202	NM_005353.2	326	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS32438.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAAGCAGC	NONE	.	.	Superfamily_domains:SSF53300,Superfamily_domains:SSF69318,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS50234	.	.	ENSP00000373854	.	9/30	.	.	.	.	.	.	.	.	.	9/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.08)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Lys326Arg,ENST00000389202,;RP11-120K18.2,downstream_gene_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	1026	53	61	SUCCESS
HSDL1	83693	.	GRCh37	16	84163813	84163813	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	18	91	0	ENST00000219439.4:c.444G>A	p.Leu148=	p.L148=	ENST00000219439	NM_001146051.1	148	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10942.1	444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACCAAGAT	NONE	.	.	hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF243,Pfam_domain:PF00106,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735,Prints_domain:PR00080,Prints_domain:PR00081	.	.	ENSP00000219439	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000219439	Transcript	.	.	ENSG00000103160	16475	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSDL1_HUMAN	HSDL1	HGNC	H3BT52_HUMAN,H3BQI7_HUMAN,H3BNH5_HUMAN	.	UPI0000049039	SNV	HSDL1,synonymous_variant,p.%3D,ENST00000219439,;HSDL1,intron_variant,,ENST00000434463,;HSDL1,downstream_gene_variant,,ENST00000568857,;HSDL1,downstream_gene_variant,,ENST00000564998,;HSDL1,downstream_gene_variant,,ENST00000562224,;HSDL1,downstream_gene_variant,,ENST00000567294,;	621	91	87	SUCCESS
ZNF469	84627	.	GRCh37	16	88499415	88499415	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs539550777	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	67	0	ENST00000437464.1:c.5453C>T	p.Thr1818Met	p.T1818M	ENST00000437464	NM_001127464.1	1818	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS45544.1	5453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACGGCAG	NONE	.	.	hmmpanther:PTHR21465,hmmpanther:PTHR21465:SF2	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	rs539550777	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,missense_variant,p.Thr1846Met,ENST00000565624,;ZNF469,missense_variant,p.Thr1818Met,ENST00000437464,;	5453	67	86	SUCCESS
PIEZO1	9780	.	GRCh37	16	88801357	88801357	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs913917072	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	33	0	ENST00000301015.9:c.1774A>G	p.Ser592Gly	p.S592G	ENST00000301015	NM_001142864.2	592	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS54058.1	1774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGACCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40	.	.	ENSP00000301015	.	14/51	.	.	.	.	.	.	.	.	.	14/51	PASS	ENST00000301015	Transcript	.	.	ENSG00000103335	28993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	PIEZ1_HUMAN	PIEZO1	HGNC	.	.	UPI0001B300F3	SNV	PIEZO1,missense_variant,p.Ser592Gly,ENST00000301015,;RP5-1142A6.2,intron_variant,,ENST00000440406,;RP5-1142A6.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;	2021	33	31	SUCCESS
DNAH9	1770	.	GRCh37	17	11784551	11784551	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	37	76	0	ENST00000262442.4:c.10627T>C	p.Cys3543Arg	p.C3543R	ENST00000262442	NM_001372.3	3543	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS11160.1	10627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATGTGAA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12781	.	.	ENSP00000262442	.	55/69	.	.	.	.	.	.	.	.	.	55/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.652)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Cys3543Arg,ENST00000454412,;DNAH9,missense_variant,p.Cys3543Arg,ENST00000262442,;DNAH9,upstream_gene_variant,,ENST00000608377,;DNAH9,downstream_gene_variant,,ENST00000579703,;DNAH9,non_coding_transcript_exon_variant,,ENST00000580255,;DNAH9,upstream_gene_variant,,ENST00000396001,;DNAH9,upstream_gene_variant,,ENST00000581682,;	10695	76	62	SUCCESS
ZNF624	57547	.	GRCh37	17	16527675	16527675	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	51	155	0	ENST00000311331.7:c.525A>G	p.Ile175Met	p.I175M	ENST00000311331	NM_020787.3	175	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS11180.1	525	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAATATCCT	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF207	.	.	ENSP00000310472	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000311331	Transcript	.	.	ENSG00000197566	29254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	tolerated(0.22)	.	ZN624_HUMAN	ZNF624	HGNC	J3QKY7_HUMAN,C9J5H1_HUMAN	.	UPI0000456A22	SNV	ZNF624,missense_variant,p.Ile175Met,ENST00000311331,;ZNF624,non_coding_transcript_exon_variant,,ENST00000579528,;	617	155	85	SUCCESS
KRTAP9-2	83899	.	GRCh37	17	39383429	39383429	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	39	0	ENST00000377721.3:c.523T>G	p.Ter175GlyextTer24	p.*175Gext*24	ENST00000377721	NM_031961.2	175	Tga/Gga	0	.	.	.	.	.	G	*/G	protein_coding	YES	CCDS32651.1	523	RADIA|VARSCANS	.	GCTGCTGATCA	NONE	.	.	.	.	.	ENSP00000366950	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377721	Transcript	.	.	ENSG00000239886	16926	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRA92_HUMAN	KRTAP9-2	HGNC	Q6ISF6_HUMAN	.	UPI000013CE13	SNV	KRTAP9-2,stop_lost,p.Ter159GlyextTer?,ENST00000455970,;KRTAP9-2,stop_lost,p.Ter175GlyextTer24,ENST00000377721,;	530	39	28	SUCCESS
ITGB3	3690	.	GRCh37	17	45367139	45367139	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	69	0	ENST00000559488.1:c.1032T>A	p.Tyr344Ter	p.Y344*	ENST00000559488	NM_000212.2	344	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS11511.1	1032	MUTECT|MUSE|VARSCANS	.	CTCTATCAGGT	NONE	.	.	hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Pfam_domain:PF00362,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300	.	.	ENSP00000452786	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000559488	Transcript	.	.	ENSG00000259207	6156	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITB3_HUMAN	ITGB3	HGNC	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN	.	UPI000013D240	SNV	ITGB3,stop_gained,p.Tyr297Ter,ENST00000435993,;ITGB3,stop_gained,p.Tyr344Ter,ENST00000571680,;ITGB3,stop_gained,p.Tyr344Ter,ENST00000559488,;ITGB3,stop_gained,p.Tyr333Ter,ENST00000560629,;ITGB3,upstream_gene_variant,,ENST00000573377,;	1048	69	54	SUCCESS
TBX4	9496	.	GRCh37	17	59560352	59560352	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	36	0	ENST00000240335.1:c.1113T>A	p.Pro371=	p.P371=	ENST00000240335	NM_018488.2	371	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11629.1	1113	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTCCCTA	BUFFER|p.P371fs*8|c.1106delC|3	.	.	hmmpanther:PTHR11267:SF29,hmmpanther:PTHR11267	.	.	ENSP00000240335	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240335	Transcript	.	.	ENSG00000121075	11603	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBX4_HUMAN	TBX4	HGNC	K7EPY2_HUMAN	.	UPI000013CAA9	SNV	TBX4,synonymous_variant,p.%3D,ENST00000240335,;TBX4,synonymous_variant,p.%3D,ENST00000393853,;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,non_coding_transcript_exon_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000586874,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,downstream_gene_variant,,ENST00000590174,;	1158	36	21	SUCCESS
CHMP6	79643	.	GRCh37	17	78972941	78972941	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	46	0	ENST00000325167.5:c.594G>A	p.Val198=	p.V198=	ENST00000325167	NM_024591.4	198	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS11774.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGGCAGC	NONE	.	.	hmmpanther:PTHR22761	.	.	ENSP00000317468	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000325167	Transcript	.	.	ENSG00000176108	25675	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHMP6_HUMAN	CHMP6	HGNC	I3L3E4_HUMAN	.	UPI000003E7D8	SNV	CHMP6,synonymous_variant,p.%3D,ENST00000325167,;CHMP6,synonymous_variant,p.%3D,ENST00000572525,;CHMP6,intron_variant,,ENST00000571457,;CHMP6,downstream_gene_variant,,ENST00000572778,;AC127496.1,upstream_gene_variant,,ENST00000321930,;CTD-2561B21.7,downstream_gene_variant,,ENST00000577061,;CTD-2561B21.7,downstream_gene_variant,,ENST00000576215,;	672	46	32	SUCCESS
NETO1	81832	.	GRCh37	18	70423359	70423359	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	25	135	0	ENST00000327305.6:c.892T>G	p.Phe298Val	p.F298V	ENST00000327305	NM_138966.3	298	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS12000.1	892	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAGAATG	NONE	.	.	Superfamily_domains:SSF57424,SMART_domains:SM00192,Gene3D:4.10.400.10,Pfam_domain:PF00057,hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127,PROSITE_profiles:PS50068	.	.	ENSP00000313088	.	8/11	.	.	.	.	.	.	.	.	COSM1389633	8/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.998)	.	deleterious(0.05)	1	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,missense_variant,p.Phe298Val,ENST00000327305,;NETO1,missense_variant,p.Phe298Val,ENST00000583169,;NETO1,missense_variant,p.Phe297Val,ENST00000299430,;RNA5SP460,downstream_gene_variant,,ENST00000516789,;	1550	135	149	SUCCESS
IL27RA	9466	.	GRCh37	19	14150478	14150478	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	51	0	ENST00000263379.2:c.376+1G>A		p.X126_splice	ENST00000263379	NM_004843.3	126		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12303.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGTAACG	NONE	.	.	.	.	.	ENSP00000263379	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263379	Transcript	.	.	ENSG00000104998	17290	.	.	HIGH	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I27RA_HUMAN	IL27RA	HGNC	.	.	UPI0000039E1F	SNV	IL27RA,splice_donor_variant,,ENST00000263379,;	.	51	59	SUCCESS
CSNK1G2	1455	.	GRCh37	19	1969815	1969815	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	37	1	ENST00000255641.8:c.44G>T	p.Gly15Val	p.G15V	ENST00000255641	NM_001319.6	15	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12077.1	44	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCCGGA	NONE	.	.	hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF101,Low_complexity_(Seg):seg	.	.	ENSP00000255641	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000255641	Transcript	.	.	ENSG00000133275	2455	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	tolerated_low_confidence(0.08)	.	KC1G2_HUMAN	CSNK1G2	HGNC	.	.	UPI00000015E2	SNV	CSNK1G2,missense_variant,p.Gly15Val,ENST00000255641,;CSNK1G2,missense_variant,p.Gly15Val,ENST00000591752,;CSNK1G2,missense_variant,p.Gly15Val,ENST00000589350,;CSNK1G2,upstream_gene_variant,,ENST00000589385,;	539	38	49	SUCCESS
ZNF429	353088	.	GRCh37	19	21720356	21720356	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	31	0	ENST00000358491.4:c.1501A>G	p.Lys501Glu	p.K501E	ENST00000358491	NM_001001415.2	501	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS42537.1	1501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAAAAATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF239,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000351280	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358491	Transcript	.	.	ENSG00000197013	20817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	tolerated(0.81)	.	ZN429_HUMAN	ZNF429	HGNC	.	.	UPI000022ABC2	SNV	ZNF429,missense_variant,p.Lys501Glu,ENST00000358491,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,;	1709	31	27	SUCCESS
AP2A1	160	.	GRCh37	19	50306439	50306439	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	32	0	ENST00000359032.5:c.2313G>A	p.Gln771=	p.Q771=	ENST00000359032	NM_014203.2	771	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS46148.1	2313	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACAGAACCT	NONE	.	.	hmmpanther:PTHR22780:SF19,hmmpanther:PTHR22780,Gene3D:1kyfA01,Pfam_domain:PF02883,SMART_domains:SM00809,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF49348	.	.	ENSP00000351926	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000359032	Transcript	.	.	ENSG00000196961	561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2A1_HUMAN	AP2A1	HGNC	Q8N9K4_HUMAN	.	UPI0000167B50	SNV	AP2A1,synonymous_variant,p.%3D,ENST00000354293,;AP2A1,synonymous_variant,p.%3D,ENST00000359032,;FUZ,downstream_gene_variant,,ENST00000445575,;FUZ,downstream_gene_variant,,ENST00000528094,;FUZ,downstream_gene_variant,,ENST00000313777,;FUZ,downstream_gene_variant,,ENST00000529634,;FUZ,downstream_gene_variant,,ENST00000533418,;AP2A1,3_prime_UTR_variant,,ENST00000597774,;AP2A1,non_coding_transcript_exon_variant,,ENST00000600466,;AP2A1,non_coding_transcript_exon_variant,,ENST00000594838,;FUZ,downstream_gene_variant,,ENST00000377092,;FUZ,downstream_gene_variant,,ENST00000525370,;FUZ,downstream_gene_variant,,ENST00000534138,;FUZ,downstream_gene_variant,,ENST00000525130,;AP2A1,downstream_gene_variant,,ENST00000593788,;AP2A1,upstream_gene_variant,,ENST00000601356,;	2313	32	32	SUCCESS
ZFP28	140612	.	GRCh37	19	57058902	57058902	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	39	115	1	ENST00000301318.3:c.326C>G	p.Ala109Gly	p.A109G	ENST00000301318	NM_020828.1	109	gCt/gGt	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS12946.1	326	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCTGTAG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000301318	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000301318	Transcript	.	.	ENSG00000196867	17801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0)	.	ZFP28_HUMAN	ZFP28	HGNC	Q68CX9_HUMAN	.	UPI000006D90E	SNV	ZFP28,missense_variant,p.Ala109Gly,ENST00000591844,;ZFP28,missense_variant,p.Ala109Gly,ENST00000301318,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000594386,;ZFP28,missense_variant,p.Ala72Gly,ENST00000589836,;ZFP28,upstream_gene_variant,,ENST00000588163,;	397	116	118	SUCCESS
ZNF470	388566	.	GRCh37	19	57088623	57088623	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	23	87	0	ENST00000330619.8:c.826A>G	p.Arg276Gly	p.R276G	ENST00000330619	NM_001001668.3	276	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS33122.1	826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGAGAATA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000333223	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330619	Transcript	.	.	ENSG00000197016	22220	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	ZN470_HUMAN	ZNF470	HGNC	.	.	UPI0000D61826	SNV	ZNF470,missense_variant,p.Arg276Gly,ENST00000391709,;ZNF470,missense_variant,p.Arg276Gly,ENST00000330619,;ZNF470,intron_variant,,ENST00000594953,;ZNF470,intron_variant,,ENST00000601902,;ZNF470,intron_variant,,ENST00000601059,;	1512	87	122	SUCCESS
ZNF17	7565	.	GRCh37	19	57931549	57931549	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	56	0	ENST00000601808.1:c.689A>G	p.Asn230Ser	p.N230S	ENST00000601808	NM_006959.2	230	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42636.1	689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACAACTCCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000471905	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000601808	Transcript	.	.	ENSG00000186272	12958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.51)	.	ZNF17_HUMAN	ZNF17	HGNC	.	.	UPI00001D8198	SNV	ZNF17,missense_variant,p.Asn232Ser,ENST00000307658,;ZNF17,missense_variant,p.Asn230Ser,ENST00000601808,;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596400,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,downstream_gene_variant,,ENST00000595206,;ZNF17,downstream_gene_variant,,ENST00000599867,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;ZNF17,downstream_gene_variant,,ENST00000595162,;	902	56	76	SUCCESS
FBN3	84467	.	GRCh37	19	8161856	8161856	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	31	0	ENST00000270509.2:c.5322C>T	p.Cys1774=	p.C1774=	ENST00000270509	NM_032447.3	1774	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS12196.1	5322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGCAGGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	43/64	.	.	.	.	.	.	.	.	.	43/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,synonymous_variant,p.%3D,ENST00000600128,;FBN3,synonymous_variant,p.%3D,ENST00000601739,;FBN3,synonymous_variant,p.%3D,ENST00000270509,;FBN3,synonymous_variant,p.%3D,ENST00000602121,;	5737	31	28	SUCCESS
OR7D2	162998	.	GRCh37	19	9297230	9297230	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	64	0	ENST00000344248.2:c.773T>C	p.Val258Ala	p.V258A	ENST00000344248	NM_175883.2	258	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32900.1	773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGTCCACT	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF157,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	.	ENSP00000345563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344248	Transcript	.	.	ENSG00000188000	8378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.327)	.	deleterious_low_confidence(0.02)	.	OR7D2_HUMAN	OR7D2	HGNC	.	.	UPI0000041C0C	SNV	OR7D2,missense_variant,p.Val258Ala,ENST00000344248,;OR7E16P,upstream_gene_variant,,ENST00000592975,;TCEB1P29,upstream_gene_variant,,ENST00000588193,;	952	64	54	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156917232	156917232	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	33	0	ENST00000361409.2:c.2232G>A	p.Val744=	p.V744=	ENST00000361409	NM_014784.3	744	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1163.1	2352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCACAAA	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000357177	.	26/41	.	.	.	.	.	.	.	.	.	26/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,synonymous_variant,p.%3D,ENST00000361409,;ARHGEF11,synonymous_variant,p.%3D,ENST00000315174,;ARHGEF11,synonymous_variant,p.%3D,ENST00000368194,;ARHGEF11,upstream_gene_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000461678,;	3392	33	43	SUCCESS
PYHIN1	149628	.	GRCh37	1	158913594	158913594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	26	165	0	ENST00000368140.1:c.1017G>T	p.Arg339Ser	p.R339S	ENST00000368140	NM_152501.4	339	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS1178.1	1017	RADIA|MUTECT|MUSE|VARSCANS	.	AATAGGAAGAC	NONE	.	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200,Pfam_domain:PF02760,Gene3D:2.40.50.140,Superfamily_domains:SSF159141	.	.	ENSP00000357122	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.33)	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,missense_variant,p.Arg339Ser,ENST00000392254,;PYHIN1,missense_variant,p.Arg339Ser,ENST00000368140,;PYHIN1,missense_variant,p.Arg330Ser,ENST00000392252,;PYHIN1,missense_variant,p.Arg330Ser,ENST00000368138,;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;	1262	165	169	SUCCESS
COPA	1314	.	GRCh37	1	160282950	160282950	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	39	0	ENST00000241704.7:c.850G>A	p.Val284Ile	p.V284I	ENST00000241704	NM_004371.3	284	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS41424.1	850	MUTECT|MUSE|VARSCANS	.	CTGAACCCCAG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF003354,Superfamily_domains:0049172,Superfamily_domains:SSF50978	.	.	ENSP00000357048	.	10/33	.	.	.	.	.	.	.	.	.	10/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.33)	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,missense_variant,p.Val284Ile,ENST00000368069,;COPA,missense_variant,p.Val284Ile,ENST00000241704,;COPA,upstream_gene_variant,,ENST00000481040,;SUMO1P3,upstream_gene_variant,,ENST00000439961,;	928	39	33	SUCCESS
EIF4G3	8672	.	GRCh37	1	21276594	21276594	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	25	0	ENST00000264211.8:c.557G>A	p.Ser186Asn	p.S186N	ENST00000264211	NM_003760.4	186	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS55580.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCTGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23	.	.	ENSP00000473510	.	11/35	.	.	.	.	.	.	.	.	.	11/35	PASS	ENST00000602326	Transcript	.	.	ENSG00000075151	3298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.193)	.	deleterious(0.02)	.	IF4G3_HUMAN	EIF4G3	HGNC	Q59GJ0_HUMAN,F5H564_HUMAN	.	UPI0001639589	SNV	EIF4G3,missense_variant,p.Ser186Asn,ENST00000374935,;EIF4G3,missense_variant,p.Ser186Asn,ENST00000374927,;EIF4G3,missense_variant,p.Ser197Asn,ENST00000356916,;EIF4G3,missense_variant,p.Ser186Asn,ENST00000400422,;EIF4G3,missense_variant,p.Ser192Asn,ENST00000374937,;EIF4G3,missense_variant,p.Ser186Asn,ENST00000438975,;EIF4G3,missense_variant,p.Ser192Asn,ENST00000602326,;EIF4G3,missense_variant,p.Ser186Asn,ENST00000264211,;EIF4G3,intron_variant,,ENST00000536266,;	1159	25	53	SUCCESS
RHOU	58480	.	GRCh37	1	228871746	228871746	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	14	0	ENST00000366691.3:c.257T>A	p.Phe86Tyr	p.F86Y	ENST00000366691	NM_021205.5	86	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS1575.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTTCTCCG	NONE	.	.	PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF148,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000355652	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000366691	Transcript	.	.	ENSG00000116574	17794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.383)	.	tolerated(0.89)	.	RHOU_HUMAN	RHOU	HGNC	.	.	UPI0000073CDF	SNV	RHOU,missense_variant,p.Phe86Tyr,ENST00000366691,;	923	14	18	SUCCESS
RYR2	6262	.	GRCh37	1	237693789	237693789	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	56	0	ENST00000366574.2:c.2885A>G	p.Lys962Arg	p.K962R	ENST00000366574	NM_001035.2	962	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS55691.1	2885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAAAAAAA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	25/105	.	.	.	.	.	.	.	.	.	25/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Lys946Arg,ENST00000542537,;RYR2,missense_variant,p.Lys962Arg,ENST00000366574,;RYR2,missense_variant,p.Lys960Arg,ENST00000360064,;	3202	56	65	SUCCESS
MPL	4352	.	GRCh37	1	43805039	43805039	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	37	100	0	ENST00000372470.3:c.489T>C	p.Asp163=	p.D163=	ENST00000372470	NM_005373.2	163	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS483.1	489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATTTCCT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF8	.	.	ENSP00000361548	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000372470	Transcript	.	.	ENSG00000117400	7217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPOR_HUMAN	MPL	HGNC	.	.	UPI000002DB88	SNV	MPL,synonymous_variant,p.%3D,ENST00000413998,;MPL,synonymous_variant,p.%3D,ENST00000372470,;	531	100	134	SUCCESS
NRD1	0	.	GRCh37	1	52269532	52269532	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	94	0	ENST00000354831.7:c.2471A>G	p.Glu824Gly	p.E824G	ENST00000354831	NM_002525.2	824	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS559.1	2471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTTCTCCA	NONE	.	.	hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,Gene3D:3.30.830.10,Superfamily_domains:SSF63411	.	.	ENSP00000346890	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,missense_variant,p.Glu824Gly,ENST00000354831,;NRD1,missense_variant,p.Glu756Gly,ENST00000352171,;NRD1,missense_variant,p.Glu624Gly,ENST00000544028,;NRD1,missense_variant,p.Glu692Gly,ENST00000539524,;NRD1,missense_variant,p.Glu171Gly,ENST00000440943,;RP4-657D16.6,downstream_gene_variant,,ENST00000607338,;RP4-657D16.3,downstream_gene_variant,,ENST00000586761,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,upstream_gene_variant,,ENST00000497358,;	2661	94	77	SUCCESS
NRD1	0	.	GRCh37	1	52344432	52344432	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	8	0	ENST00000354831.7:c.-145G>C		p.*49*	ENST00000354831	NM_002525.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS559.1	.	MUTECT|MUSE	.	CTCGCCGACTT	NONE	.	.	.	.	.	ENSP00000346890	.	1/33	.	.	.	.	.	.	.	.	.	1/33	PASS	ENST00000354831	Transcript	.	.	ENSG00000078618	7995	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NRD1	HGNC	G3V1R5_HUMAN,B1AKJ5_HUMAN	.	UPI0000458A53	SNV	NRD1,5_prime_UTR_variant,,ENST00000354831,;NRD1,5_prime_UTR_variant,,ENST00000352171,;NRD1,upstream_gene_variant,,ENST00000544028,;NRD1,upstream_gene_variant,,ENST00000539524,;NRD1,non_coding_transcript_exon_variant,,ENST00000491410,;NRD1,upstream_gene_variant,,ENST00000468722,;	46	8	8	SUCCESS
ZFYVE9	9372	.	GRCh37	1	52732378	52732378	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	45	0	ENST00000287727.3:c.2330A>C	p.Asn777Thr	p.N777T	ENST00000287727	NM_004799.3	777	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS563.1	2330	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTAACAATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22835:SF127,hmmpanther:PTHR22835,Gene3D:1devB00,Pfam_domain:PF11409,PIRSF_domain:PIRSF037289	.	.	ENSP00000287727	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000287727	Transcript	.	.	ENSG00000157077	6775	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.06)	.	ZFYV9_HUMAN	ZFYVE9	HGNC	.	.	UPI0000001620	SNV	ZFYVE9,missense_variant,p.Asn777Thr,ENST00000371591,;ZFYVE9,missense_variant,p.Asn777Thr,ENST00000287727,;ZFYVE9,intron_variant,,ENST00000357206,;ZFYVE9,downstream_gene_variant,,ENST00000361625,;	2502	45	59	SUCCESS
PER3	8863	.	GRCh37	1	7887481	7887481	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs934199222	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	95	0	ENST00000361923.2:c.2468G>A	p.Gly823Asp	p.G823D	ENST00000361923	NM_016831.1	823	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS89.1	2468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGGCCTGC	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	.	.	ENSP00000355031	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000361923	Transcript	.	.	ENSG00000049246	8847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.095)	.	tolerated(0.2)	.	PER3_HUMAN	PER3	HGNC	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN	.	UPI0000167B1D	SNV	PER3,missense_variant,p.Gly831Asp,ENST00000377532,;PER3,missense_variant,p.Gly823Asp,ENST00000361923,;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;	2643	95	95	SUCCESS
CHD6	84181	.	GRCh37	20	40085989	40085989	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs991214617	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	33	65	0	ENST00000373233.3:c.2744G>A	p.Arg915His	p.R915H	ENST00000373233	NM_032221.4	915	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS13317.1	2744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGCGCTCG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000362330	.	18/37	.	.	.	.	.	.	.	.	.	18/37	PASS	ENST00000373233	Transcript	.	.	ENSG00000124177	19057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHD6_HUMAN	CHD6	HGNC	.	.	UPI0000168656	SNV	CHD6,missense_variant,p.Arg915His,ENST00000373233,;CHD6,intron_variant,,ENST00000309279,;CHD6,intron_variant,,ENST00000440697,;RP4-620E11.4,downstream_gene_variant,,ENST00000423903,;	2922	65	61	SUCCESS
WIPF1	7456	.	GRCh37	2	175436295	175436295	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	9	46	0	ENST00000359761.3:c.1129+109A>G		p.*377*	ENST00000359761				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2260.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTCTGAG	NONE	.	.	.	.	.	ENSP00000376330	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392547	Transcript	.	.	ENSG00000115935	12736	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPF1_HUMAN	WIPF1	HGNC	C9JTB9_HUMAN	.	UPI000013D4BD	SNV	WIPF1,3_prime_UTR_variant,,ENST00000409415,;WIPF1,intron_variant,,ENST00000359761,;WIPF1,intron_variant,,ENST00000392547,;WIPF1,intron_variant,,ENST00000409891,;WIPF1,intron_variant,,ENST00000272746,;WIPF1,intron_variant,,ENST00000392546,;WIPF1,downstream_gene_variant,,ENST00000436221,;WIPF1,downstream_gene_variant,,ENST00000455428,;WIPF1,downstream_gene_variant,,ENST00000410117,;AC018890.6,intron_variant,,ENST00000412835,;AC018890.6,intron_variant,,ENST00000442996,;AC010894.5,upstream_gene_variant,,ENST00000454203,;WIPF1,upstream_gene_variant,,ENST00000467149,;	.	46	60	SUCCESS
FN1	2335	.	GRCh37	2	216261911	216261911	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746992481	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	7	55	0	ENST00000359671.1:c.3553A>G	p.Asn1185Asp	p.N1185D	ENST00000359671		1185	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS42814.1	3553	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTTTGCCT	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF187,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000346839	.	23/46	.	.	.	.	.	.	.	.	rs746992481	23/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.01)	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,missense_variant,p.Asn1185Asp,ENST00000357867,;FN1,missense_variant,p.Asn1185Asp,ENST00000432072,;FN1,missense_variant,p.Asn1185Asp,ENST00000421182,;FN1,missense_variant,p.Asn1185Asp,ENST00000443816,;FN1,missense_variant,p.Asn1185Asp,ENST00000346544,;FN1,missense_variant,p.Asn1185Asp,ENST00000345488,;FN1,missense_variant,p.Asn1185Asp,ENST00000354785,;FN1,missense_variant,p.Asn1185Asp,ENST00000336916,;FN1,missense_variant,p.Asn1185Asp,ENST00000359671,;FN1,missense_variant,p.Asn1185Asp,ENST00000357009,;FN1,missense_variant,p.Asn1185Asp,ENST00000446046,;FN1,missense_variant,p.Asn1185Asp,ENST00000323926,;FN1,missense_variant,p.Asn1185Asp,ENST00000356005,;FN1,upstream_gene_variant,,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000492816,;	3923	55	46	SUCCESS
STK25	10494	.	GRCh37	2	242439594	242439594	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	77	0	ENST00000316586.4:c.421A>G	p.Ile141Val	p.I141V	ENST00000316586	NM_001282308.1	141	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2549.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGATGTCTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF208,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000325748	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000316586	Transcript	.	.	ENSG00000115694	11404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.633)	.	tolerated(0.14)	.	STK25_HUMAN	STK25	HGNC	E7EM58_HUMAN,C9JJV0_HUMAN,C9JDH9_HUMAN,C9JCC0_HUMAN,C9J232_HUMAN,B7Z9K1_HUMAN	.	UPI0000000C8C	SNV	STK25,missense_variant,p.Ile47Val,ENST00000442307,;STK25,missense_variant,p.Ile45Val,ENST00000424537,;STK25,missense_variant,p.Ile23Val,ENST00000423004,;STK25,missense_variant,p.Ile64Val,ENST00000405585,;STK25,missense_variant,p.Ile141Val,ENST00000403346,;STK25,missense_variant,p.Ile47Val,ENST00000440109,;STK25,missense_variant,p.Ile141Val,ENST00000401869,;STK25,missense_variant,p.Ile47Val,ENST00000429279,;STK25,missense_variant,p.Ile47Val,ENST00000435225,;STK25,missense_variant,p.Ile47Val,ENST00000535007,;STK25,missense_variant,p.Ile47Val,ENST00000543554,;STK25,missense_variant,p.Ile47Val,ENST00000450497,;STK25,missense_variant,p.Ile47Val,ENST00000413760,;STK25,missense_variant,p.Ile141Val,ENST00000436402,;STK25,missense_variant,p.Ile141Val,ENST00000316586,;STK25,missense_variant,p.Ile64Val,ENST00000405883,;STK25,downstream_gene_variant,,ENST00000426941,;STK25,downstream_gene_variant,,ENST00000420551,;STK25,downstream_gene_variant,,ENST00000439101,;STK25,non_coding_transcript_exon_variant,,ENST00000461760,;STK25,upstream_gene_variant,,ENST00000470438,;STK25,downstream_gene_variant,,ENST00000483603,;STK25,upstream_gene_variant,,ENST00000478403,;STK25,downstream_gene_variant,,ENST00000452891,;STK25,downstream_gene_variant,,ENST00000436917,;STK25,non_coding_transcript_exon_variant,,ENST00000479442,;STK25,non_coding_transcript_exon_variant,,ENST00000496159,;STK25,non_coding_transcript_exon_variant,,ENST00000492127,;STK25,upstream_gene_variant,,ENST00000487962,;STK25,upstream_gene_variant,,ENST00000494699,;STK25,downstream_gene_variant,,ENST00000495372,;STK25,upstream_gene_variant,,ENST00000495143,;STK25,upstream_gene_variant,,ENST00000462953,;STK25,upstream_gene_variant,,ENST00000465009,;	771	77	58	SUCCESS
ASXL2	55252	.	GRCh37	2	25965211	25965211	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs775329935	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	62	0	ENST00000435504.4:c.3995A>G	p.Asn1332Ser	p.N1332S	ENST00000435504		1332	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	.	3995	RADIA|MUTECT|MUSE|VARSCANS	.	AGACATTGATC	NONE	byFrequency	.	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	13/13	.	.	.	.	.	.	.	.	rs775329935	13/13	PASS	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	tolerated(0.23)	.	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Asn815Ser,ENST00000272341,;ASXL2,missense_variant,p.Asn1304Ser,ENST00000336112,;ASXL2,missense_variant,p.Asn815Ser,ENST00000404843,;ASXL2,missense_variant,p.Asn1332Ser,ENST00000435504,;	4289	62	54	SUCCESS
ZAP70	7535	.	GRCh37	2	98340508	98340508	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	13	18	0	ENST00000264972.5:c.9C>A	p.Asp3Glu	p.D3E	ENST00000264972	NM_001079.3	3	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS33254.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACCCCGC	NONE	.	.	PIRSF_domain:PIRSF000604	.	.	ENSP00000264972	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000264972	Transcript	.	.	ENSG00000115085	12858	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.04)	.	ZAP70_HUMAN	ZAP70	HGNC	B4E0E2_HUMAN	.	UPI000013C370	SNV	ZAP70,missense_variant,p.Asp3Glu,ENST00000264972,;ZAP70,upstream_gene_variant,,ENST00000442208,;ZAP70,upstream_gene_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;	224	18	19	SUCCESS
POLQ	10721	.	GRCh37	3	121215700	121215700	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373455498	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	55	0	ENST00000264233.5:c.2233C>A	p.Arg745Ser	p.R745S	ENST00000264233	NM_199420.3	745	Cgt/Agt	0	A:0	.	.	.	.	T	R/S	protein_coding	YES	CCDS33833.1	2233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGATTGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Superfamily_domains:SSF158702	.	A:0.0001	ENSP00000264233	.	14/30	.	.	.	.	.	.	.	.	rs373455498,COSM4112641	14/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Arg745Ser,ENST00000264233,;RPL7AP11,downstream_gene_variant,,ENST00000486538,;	2362	55	56	SUCCESS
STAG1	10274	.	GRCh37	3	136057110	136057110	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	26	119	0	ENST00000383202.2:c.3763A>C	p.Met1255Leu	p.M1255L	ENST00000383202	NM_005862.2	1255	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS3090.1	3763	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCATTCCAA	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6	.	.	ENSP00000372689	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000383202	Transcript	.	.	ENSG00000118007	11354	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.3)	.	STAG1_HUMAN	STAG1	HGNC	Q4LE48_HUMAN	.	UPI000020A2DE	SNV	STAG1,missense_variant,p.Met839Leu,ENST00000536929,;STAG1,missense_variant,p.Met995Leu,ENST00000434713,;STAG1,missense_variant,p.Met1255Leu,ENST00000383202,;STAG1,missense_variant,p.Met1218Leu,ENST00000236698,;PCCB,downstream_gene_variant,,ENST00000478469,;PCCB,downstream_gene_variant,,ENST00000471595,;STAG1,3_prime_UTR_variant,,ENST00000483235,;	4020	119	133	SUCCESS
ANKUB1	389161	.	GRCh37	3	149485434	149485434	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	18	99	0	ENST00000446160.1:c.1015T>C	p.Phe339Leu	p.F339L	ENST00000446160	NM_001144960.1	339	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	.	1015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAAGACCC	NONE	.	.	hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF111	.	.	ENSP00000387907	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000446160	Transcript	.	.	ENSG00000206199	29642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	.	ANKUB1	HGNC	E9PHT4_HUMAN	.	UPI0000DD7B6F	SNV	ANKUB1,missense_variant,p.Phe339Leu,ENST00000462519,;ANKUB1,missense_variant,p.Phe339Leu,ENST00000446160,;ANKUB1,missense_variant,p.Phe339Leu,ENST00000383050,;ANKUB1,3_prime_UTR_variant,,ENST00000484019,;	1472	99	117	SUCCESS
PHC3	80012	.	GRCh37	3	169867033	169867033	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	37	0	ENST00000494943.1:c.379-1G>C		p.X127_splice	ENST00000494943		127		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46952.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATCTAAGG	NONE	.	.	.	.	.	ENSP00000420294	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000495893	Transcript	.	.	ENSG00000173889	15682	.	.	HIGH	4/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHC3_HUMAN	PHC3	HGNC	C9JYH7_HUMAN	.	UPI00004DF1A6	SNV	PHC3,splice_acceptor_variant,,ENST00000474275,;PHC3,splice_acceptor_variant,,ENST00000495893,;PHC3,splice_acceptor_variant,,ENST00000494943,;PHC3,splice_acceptor_variant,,ENST00000475729,;PHC3,intron_variant,,ENST00000484931,;PHC3,intron_variant,,ENST00000467570,;PHC3,intron_variant,,ENST00000466189,;PHC3,downstream_gene_variant,,ENST00000465896,;RNU6-315P,upstream_gene_variant,,ENST00000362666,;PHC3,splice_acceptor_variant,,ENST00000479467,;PHC3,splice_acceptor_variant,,ENST00000472330,;	.	37	24	SUCCESS
DGKG	1608	.	GRCh37	3	185997721	185997721	+	synonymous_variant	Silent	SNP	G	G	A	rs61752079	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	83	0	ENST00000265022.3:c.711C>T	p.Asp237=	p.D237=	ENST00000265022	NM_001080744.1	237	gaC/gaT	0	A:0.0014	A:0.0045	.	A:0	.	A	D	protein_coding	YES	CCDS3274.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGTCCCG	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	A:0.002	A:0.0001	ENSP00000265022	A:0	9/25	.	.	.	.	.	.	.	.	rs61752079,COSM3974312	9/25	PASS	ENST00000265022	Transcript	.	A:0.0016	ENSG00000058866	2853	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	DGKG_HUMAN	DGKG	HGNC	.	.	UPI000013D5AB	SNV	DGKG,synonymous_variant,p.%3D,ENST00000382164,;DGKG,synonymous_variant,p.%3D,ENST00000544847,;DGKG,synonymous_variant,p.%3D,ENST00000265022,;DGKG,synonymous_variant,p.%3D,ENST00000344484,;DGKG,intron_variant,,ENST00000437018,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,non_coding_transcript_exon_variant,,ENST00000482566,;DGKG,upstream_gene_variant,,ENST00000472506,;	1251	83	68	SUCCESS
LRRC15	131578	.	GRCh37	3	194080170	194080170	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780088793	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	29	74	0	ENST00000347624.3:c.1603G>A	p.Ala535Thr	p.A535T	ENST00000347624	NM_130830.4	535	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS46984.1	1621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCTGGG	NONE	byFrequency	.	hmmpanther:PTHR24369:SF15,hmmpanther:PTHR24369	.	.	ENSP00000389128	.	2/2	.	.	.	.	.	.	.	.	rs780088793	2/2	PASS	ENST00000439944	Transcript	.	.	ENSG00000172061	20818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.71)	.	LRC15_HUMAN	LRRC15	HGNC	.	.	UPI000153D75D	SNV	LRRC15,missense_variant,p.Ala535Thr,ENST00000347624,;LRRC15,missense_variant,p.Ala541Thr,ENST00000439944,;LRRC15,missense_variant,p.Ala541Thr,ENST00000428839,;	1621	74	70	SUCCESS
MUC4	4585	.	GRCh37	3	195538745	195538745	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	50	1	ENST00000463781.3:c.-57T>G		p.*19*	ENST00000463781	NM_018406.6			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54700.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGTGTG	NONE	.	.	.	.	.	ENSP00000417498	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,5_prime_UTR_variant,,ENST00000475231,;MUC4,5_prime_UTR_variant,,ENST00000463781,;MUC4,upstream_gene_variant,,ENST00000346145,;MUC4,upstream_gene_variant,,ENST00000349607,;MUC4,non_coding_transcript_exon_variant,,ENST00000478685,;MUC4,5_prime_UTR_variant,,ENST00000477086,;MUC4,5_prime_UTR_variant,,ENST00000466475,;MUC4,5_prime_UTR_variant,,ENST00000478156,;MUC4,5_prime_UTR_variant,,ENST00000470451,;MUC4,5_prime_UTR_variant,,ENST00000479406,;MUC4,5_prime_UTR_variant,,ENST00000477756,;MUC4,5_prime_UTR_variant,,ENST00000462323,;MUC4,5_prime_UTR_variant,,ENST00000480843,;	404	51	55	SUCCESS
OXSM	54995	.	GRCh37	3	25833159	25833159	+	synonymous_variant	Silent	SNP	G	G	T	rs929865831	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	33	127	1	ENST00000280701.3:c.648G>T	p.Val216=	p.V216=	ENST00000280701	NM_017897.2	216	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2643.1	648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGGAGA	NONE	.	.	hmmpanther:PTHR11712,PROSITE_patterns:PS00606,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR03150,Pfam_domain:PF00109,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901	.	.	ENSP00000280701	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000280701	Transcript	.	.	ENSG00000151093	26063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXSM_HUMAN	OXSM	HGNC	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN	.	UPI000004713F	SNV	OXSM,synonymous_variant,p.%3D,ENST00000280701,;OXSM,synonymous_variant,p.%3D,ENST00000452098,;OXSM,synonymous_variant,p.%3D,ENST00000420173,;OXSM,synonymous_variant,p.%3D,ENST00000428266,;NGLY1,upstream_gene_variant,,ENST00000417874,;OXSM,intron_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,intron_variant,,ENST00000448177,;	747	128	144	SUCCESS
UBA7	7318	.	GRCh37	3	49848783	49848783	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	72	0	ENST00000333486.3:c.1045G>C	p.Val349Leu	p.V349L	ENST00000333486	NM_003335.2	349	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS2805.1	1045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGACTGTCC	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572	.	.	ENSP00000333266	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000333486	Transcript	.	.	ENSG00000182179	12471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	UBA7_HUMAN	UBA7	HGNC	.	.	UPI000006E3F8	SNV	UBA7,missense_variant,p.Val349Leu,ENST00000333486,;UBA7,downstream_gene_variant,,ENST00000494212,;UBA7,non_coding_transcript_exon_variant,,ENST00000460703,;UBA7,non_coding_transcript_exon_variant,,ENST00000460516,;UBA7,upstream_gene_variant,,ENST00000473992,;UBA7,downstream_gene_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000488536,;UBA7,upstream_gene_variant,,ENST00000478875,;UBA7,upstream_gene_variant,,ENST00000483751,;UBA7,upstream_gene_variant,,ENST00000489826,;	1204	72	73	SUCCESS
IL17RC	84818	.	GRCh37	3	9958892	9958892	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	22	0	ENST00000295981.3:c.-108G>A		p.*36*	ENST00000295981	NM_153461.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2590.1	.	MUTECT|MUSE	.	AAGAGGGATTC	NONE	.	.	.	.	.	ENSP00000295981	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000295981	Transcript	.	.	ENSG00000163702	18358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	I17RC_HUMAN	IL17RC	HGNC	.	.	UPI000013E2E3	SNV	IL17RC,5_prime_UTR_variant,,ENST00000436503,;IL17RC,5_prime_UTR_variant,,ENST00000403601,;IL17RC,5_prime_UTR_variant,,ENST00000455057,;IL17RC,5_prime_UTR_variant,,ENST00000438091,;IL17RC,5_prime_UTR_variant,,ENST00000383812,;IL17RC,5_prime_UTR_variant,,ENST00000295981,;IL17RC,5_prime_UTR_variant,,ENST00000416074,;IL17RE,downstream_gene_variant,,ENST00000421412,;IL17RE,downstream_gene_variant,,ENST00000383814,;IL17RE,downstream_gene_variant,,ENST00000295980,;IL17RC,upstream_gene_variant,,ENST00000413608,;IL17RE,downstream_gene_variant,,ENST00000454190,;RNU6-882P,downstream_gene_variant,,ENST00000391025,;IL17RC,non_coding_transcript_exon_variant,,ENST00000498214,;IL17RC,5_prime_UTR_variant,,ENST00000424206,;IL17RC,5_prime_UTR_variant,,ENST00000440502,;IL17RC,5_prime_UTR_variant,,ENST00000476810,;IL17RC,5_prime_UTR_variant,,ENST00000412901,;IL17RC,5_prime_UTR_variant,,ENST00000451231,;IL17RC,5_prime_UTR_variant,,ENST00000451271,;IL17RC,5_prime_UTR_variant,,ENST00000451165,;IL17RC,5_prime_UTR_variant,,ENST00000434756,;IL17RC,non_coding_transcript_exon_variant,,ENST00000466046,;IL17RC,non_coding_transcript_exon_variant,,ENST00000483582,;IL17RC,non_coding_transcript_exon_variant,,ENST00000497102,;IL17RC,non_coding_transcript_exon_variant,,ENST00000490512,;IL17RC,non_coding_transcript_exon_variant,,ENST00000481032,;IL17RC,non_coding_transcript_exon_variant,,ENST00000469686,;IL17RC,non_coding_transcript_exon_variant,,ENST00000494365,;IL17RE,downstream_gene_variant,,ENST00000434065,;IL17RC,upstream_gene_variant,,ENST00000478206,;IL17RE,downstream_gene_variant,,ENST00000383815,;	111	22	9	SUCCESS
PPP3CA	5530	.	GRCh37	4	102117189	102117189	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764832679	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	25	93	0	ENST00000394854.3:c.143C>T	p.Ala48Val	p.A48V	ENST00000394854	NM_000944.4	48	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34037.1	143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGCCTTT	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF192,Gene3D:3.60.21.10,Superfamily_domains:SSF56300	.	.	ENSP00000378323	.	2/14	.	.	.	.	.	.	.	.	rs764832679	2/14	PASS	ENST00000394854	Transcript	.	.	ENSG00000138814	9314	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.103)	.	tolerated(0.06)	.	PP2BA_HUMAN	PPP3CA	HGNC	Q9UMM5_HUMAN,Q9UMB2_HUMAN,E9PPC8_HUMAN,E9PK68_HUMAN,E7ETC2_HUMAN	.	UPI0000110660	SNV	PPP3CA,missense_variant,p.Ala48Val,ENST00000512215,;PPP3CA,missense_variant,p.Ala48Val,ENST00000394853,;PPP3CA,missense_variant,p.Ala48Val,ENST00000323055,;PPP3CA,missense_variant,p.Ala48Val,ENST00000394854,;PPP3CA,5_prime_UTR_variant,,ENST00000529324,;PPP3CA,5_prime_UTR_variant,,ENST00000525819,;PPP3CA,intron_variant,,ENST00000507176,;PPP3CA,intron_variant,,ENST00000523694,;PPP3CA,upstream_gene_variant,,ENST00000492351,;	827	93	88	SUCCESS
NDST3	9348	.	GRCh37	4	119154228	119154228	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	109	0	ENST00000296499.5:c.1881C>G	p.Ser627Arg	p.S627R	ENST00000296499	NM_004784.2	627	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS3708.1	1881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCCAAA	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296499	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000296499	Transcript	.	.	ENSG00000164100	7682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.748)	.	deleterious(0)	.	NDST3_HUMAN	NDST3	HGNC	.	.	UPI0000071C44	SNV	NDST3,missense_variant,p.Ser546Arg,ENST00000433996,;NDST3,missense_variant,p.Ser627Arg,ENST00000296499,;	2284	109	72	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148984418	148984418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	70	0	ENST00000336498.3:c.2147C>T	p.Pro716Leu	p.P716L	ENST00000336498	NM_024605.3	716	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS34075.1	2147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCTCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5	.	.	ENSP00000336923	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.39)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Pro716Leu,ENST00000336498,;ARHGAP10,intron_variant,,ENST00000507661,;ARHGAP10,intron_variant,,ENST00000414545,;ARHGAP10,upstream_gene_variant,,ENST00000510076,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000513548,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	2386	70	59	SUCCESS
PDGFC	56034	.	GRCh37	4	157892010	157892019	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCGGCCAG	GGCCGGCCAG	-	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	GGCCGGCCAG	GGCCGGCCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	67	0	ENST00000502773.1:c.37_46del	p.Leu13ArgfsTer11	p.L13Rfs*11	ENST00000502773	NM_016205.2	13	CTGGCCGGCCag/ag	0	.	.	.	.	.	-	LAGQ/X	protein_coding	YES	CCDS3795.1	37-46	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTCTGGCCGGCCAGGGCAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000422464	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000502773	Transcript	.	.	ENSG00000145431	8801	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDGFC_HUMAN	PDGFC	HGNC	.	.	UPI0000034814	deletion	PDGFC,frameshift_variant,p.Leu13ArgfsTer11,ENST00000502773,;PDGFC,frameshift_variant,p.Leu13ArgfsTer11,ENST00000422544,;PDGFC,5_prime_UTR_variant,,ENST00000541126,;PDGFC,non_coding_transcript_exon_variant,,ENST00000513664,;PDGFC,frameshift_variant,p.Leu13ArgfsTer11,ENST00000274071,;RP11-612J15.3,upstream_gene_variant,,ENST00000508378,;	528-537	67	38	SUCCESS
SHROOM3	57619	.	GRCh37	4	77660340	77660340	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	63	0	ENST00000296043.6:c.1014A>C	p.Ser338=	p.S338=	ENST00000296043	NM_020859.3	338	tcA/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3579.2	1014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCAGCAAA	NONE	.	.	hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	.	.	ENSP00000296043	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,synonymous_variant,p.%3D,ENST00000296043,;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,;	1967	63	39	SUCCESS
COPS4	51138	.	GRCh37	4	83970469	83970469	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	57	0	ENST00000264389.2:c.305A>T	p.Gln102Leu	p.Q102L	ENST00000264389	NM_016129.2	102	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS3600.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCAGGTAA	NONE	.	.	hmmpanther:PTHR10855	.	.	ENSP00000264389	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000264389	Transcript	.	.	ENSG00000138663	16702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	CSN4_HUMAN	COPS4	HGNC	.	.	UPI0000037722	SNV	COPS4,missense_variant,p.Gln102Leu,ENST00000503682,;COPS4,missense_variant,p.Gln102Leu,ENST00000264389,;COPS4,missense_variant,p.Gln102Leu,ENST00000509093,;COPS4,missense_variant,p.Gln102Leu,ENST00000511653,;COPS4,intron_variant,,ENST00000509317,;COPS4,splice_region_variant,,ENST00000510801,;COPS4,splice_region_variant,,ENST00000506443,;COPS4,downstream_gene_variant,,ENST00000511708,;COPS4,splice_region_variant,,ENST00000507376,;COPS4,non_coding_transcript_exon_variant,,ENST00000511891,;	440	57	48	SUCCESS
SEMA6A	57556	.	GRCh37	5	115782757	115782757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	33	117	0	ENST00000343348.6:c.2645C>T	p.Pro882Leu	p.P882L	ENST00000343348	NM_020796.3	882	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS47256.1	2645	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGGAACT	NONE	.	.	hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036	.	.	ENSP00000345512	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000343348	Transcript	.	.	ENSG00000092421	10738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SEM6A_HUMAN	SEMA6A	HGNC	D6RCR0_HUMAN,D6RAG9_HUMAN	.	UPI000020C463	SNV	SEMA6A,missense_variant,p.Pro882Leu,ENST00000510263,;SEMA6A,missense_variant,p.Pro397Leu,ENST00000515129,;SEMA6A,missense_variant,p.Pro899Leu,ENST00000257414,;SEMA6A,missense_variant,p.Pro309Leu,ENST00000513137,;SEMA6A,missense_variant,p.Pro359Leu,ENST00000282394,;SEMA6A,missense_variant,p.Pro261Leu,ENST00000503865,;SEMA6A,missense_variant,p.Pro882Leu,ENST00000343348,;CTB-118N6.3,upstream_gene_variant,,ENST00000512128,;CTB-118N6.3,upstream_gene_variant,,ENST00000510682,;CTB-118N6.3,upstream_gene_variant,,ENST00000514214,;CTB-118N6.3,upstream_gene_variant,,ENST00000508424,;CTB-118N6.3,upstream_gene_variant,,ENST00000508640,;SEMA6A,downstream_gene_variant,,ENST00000506114,;AC010296.1,upstream_gene_variant,,ENST00000542571,;	3433	117	101	SUCCESS
PCDHGB2	56103	.	GRCh37	5	140741649	140741649	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	32	0	ENST00000522605.1:c.1947A>G	p.Gly649=	p.G649=	ENST00000522605	NM_018923.2	649	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS54924.1	1947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGAGGACA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF102,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429018	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522605	Transcript	.	.	ENSG00000253910	8709	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGE_HUMAN	PCDHGB2	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EE67	SNV	PCDHGB2,synonymous_variant,p.%3D,ENST00000522605,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA5,upstream_gene_variant,,ENST00000518069,;	1947	32	24	SUCCESS
ZNF454	285676	.	GRCh37	5	178391941	178391941	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	70	0	ENST00000320129.3:c.536A>G	p.Glu179Gly	p.E179G	ENST00000320129	NM_182594.2	179	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4441.1	536	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGAGTGTA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF00096,Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF221,PROSITE_profiles:PS50157	.	.	ENSP00000326249	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000320129	Transcript	.	.	ENSG00000178187	21200	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.328)	.	tolerated(0.06)	.	ZN454_HUMAN	ZNF454	HGNC	.	.	UPI00001407C7	SNV	ZNF454,missense_variant,p.Glu179Gly,ENST00000519564,;ZNF454,missense_variant,p.Glu179Gly,ENST00000320129,;RP11-281O15.4,upstream_gene_variant,,ENST00000519491,;	839	70	80	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5200316	5200316	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	21	65	0	ENST00000274181.7:c.1385T>C	p.Leu462Ser	p.L462S	ENST00000274181	NM_139056.2	462	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS43299.1	1385	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATTGGCAG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000274181	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,missense_variant,p.Leu462Ser,ENST00000274181,;ADAMTS16,missense_variant,p.Leu462Ser,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	1523	65	81	SUCCESS
SOBP	55084	.	GRCh37	6	107956286	107956286	+	synonymous_variant	Silent	SNP	G	G	A	rs750811092	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	34	0	ENST00000317357.5:c.2238G>A	p.Pro746=	p.P746=	ENST00000317357	NM_018013.3	746	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43488.1	2238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF2	.	.	ENSP00000318900	.	6/7	.	.	.	.	.	.	.	.	rs750811092	6/7	PASS	ENST00000317357	Transcript	.	.	ENSG00000112320	29256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOBP_HUMAN	SOBP	HGNC	.	.	UPI0000E6A8ED	SNV	SOBP,synonymous_variant,p.%3D,ENST00000317357,;SOBP,non_coding_transcript_exon_variant,,ENST00000494935,;	2897	34	35	SUCCESS
FAM184A	79632	.	GRCh37	6	119338099	119338099	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	98	296	0	ENST00000338891.7:c.1343A>G	p.Glu448Gly	p.E448G	ENST00000338891	NM_024581.4	448	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS43499.1	1343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTTCATTT	BUFFER|p.R451I|c.1352G>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18870,hmmpanther:PTHR18870:SF7	.	.	ENSP00000342604	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	deleterious(0)	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,missense_variant,p.Glu34Gly,ENST00000448815,;FAM184A,missense_variant,p.Glu328Gly,ENST00000368475,;FAM184A,missense_variant,p.Glu328Gly,ENST00000352896,;FAM184A,missense_variant,p.Glu448Gly,ENST00000338891,;FAM184A,missense_variant,p.Glu328Gly,ENST00000522284,;FAM184A,missense_variant,p.Glu448Gly,ENST00000521531,;RP11-351A11.1,intron_variant,,ENST00000518570,;	1787	296	279	SUCCESS
OPRM1	4988	.	GRCh37	6	154414480	154414480	+	intron_variant	Intron	SNP	G	G	C	rs200463796	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	99	0	ENST00000330432.7:c.1164+1873G>C		p.*388*	ENST00000330432	NM_000914.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47503.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAGGACCT	NONE	byCluster	.	.	.	.	ENSP00000394624	.	.	.	.	.	.	.	.	.	.	rs200463796,COSM1663220	.	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Gly414Arg,ENST00000229768,;OPRM1,intron_variant,,ENST00000337049,;OPRM1,intron_variant,,ENST00000360422,;OPRM1,intron_variant,,ENST00000452687,;OPRM1,intron_variant,,ENST00000330432,;OPRM1,intron_variant,,ENST00000435918,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000414028,;OPRM1,intron_variant,,ENST00000419506,;OPRM1,intron_variant,,ENST00000434900,;OPRM1,intron_variant,,ENST00000524163,;OPRM1,intron_variant,,ENST00000522236,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,intron_variant,,ENST00000522555,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,downstream_gene_variant,,ENST00000428397,;OPRM1,intron_variant,,ENST00000519613,;OPRM1,downstream_gene_variant,,ENST00000522382,;OPRM1,downstream_gene_variant,,ENST00000521106,;OPRM1,intron_variant,,ENST00000522739,;OPRM1,intron_variant,,ENST00000519083,;OPRM1,intron_variant,,ENST00000524150,;	.	99	80	SUCCESS
LGSN	51557	.	GRCh37	6	63990999	63990999	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	18	115	0	ENST00000370657.4:c.457T>G	p.Leu153Val	p.L153V	ENST00000370657		153	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4964.1	457	RADIA|MUTECT|MUSE|VARSCANS	.	TGATAACTCTG	NONE	.	.	Superfamily_domains:SSF54368,Pfam_domain:PF03951,Gene3D:2bvcA01,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.229)	.	deleterious(0)	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	SNV	LGSN,missense_variant,p.Leu153Val,ENST00000485906,;LGSN,missense_variant,p.Leu153Val,ENST00000370658,;LGSN,missense_variant,p.Leu153Val,ENST00000370657,;	491	115	125	SUCCESS
COL12A1	1303	.	GRCh37	6	75861697	75861697	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746366215	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	35	107	0	ENST00000322507.8:c.3886A>G	p.Met1296Val	p.M1296V	ENST00000322507	NM_004370.5	1296	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS43482.1	3886	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCATGCCAG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000325146	.	20/66	.	.	.	.	.	.	.	.	rs746366215	20/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Met1296Val,ENST00000416123,;COL12A1,missense_variant,p.Met1296Val,ENST00000322507,;COL12A1,missense_variant,p.Met38Val,ENST00000419671,;COL12A1,missense_variant,p.Met1296Val,ENST00000483888,;COL12A1,missense_variant,p.Met132Val,ENST00000345356,;	4196	107	106	SUCCESS
SNAP91	9892	.	GRCh37	6	84270639	84270639	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	107	0	ENST00000369694.2:c.2470G>C	p.Val824Leu	p.V824L	ENST00000369694	NM_001242792.1	824	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS47455.1	2470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACTGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.542)	.	tolerated(0.1)	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,missense_variant,p.Val824Leu,ENST00000439399,;SNAP91,missense_variant,p.Val819Leu,ENST00000195649,;SNAP91,missense_variant,p.Val165Leu,ENST00000523448,;SNAP91,missense_variant,p.Val517Leu,ENST00000437520,;SNAP91,missense_variant,p.Val819Leu,ENST00000521485,;SNAP91,missense_variant,p.Val794Leu,ENST00000520302,;SNAP91,missense_variant,p.Val824Leu,ENST00000428679,;SNAP91,missense_variant,p.Val517Leu,ENST00000520213,;SNAP91,missense_variant,p.Val824Leu,ENST00000369694,;SNAP91,missense_variant,p.Val824Leu,ENST00000521743,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;	2787	107	114	SUCCESS
SH2B2	10603	.	GRCh37	7	101944556	101944556	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1178024770	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	69	0	ENST00000536178.1:c.851C>T	p.Pro284Leu	p.P284L	ENST00000536178		284	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGCCGCCCA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF4,PROSITE_profiles:PS50003	.	.	ENSP00000440273	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000536178	Transcript	.	.	ENSG00000160999	17381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0.03)	.	.	SH2B2	HGNC	F5GY53_HUMAN,C9JK89_HUMAN	.	UPI0002064F59	SNV	SH2B2,missense_variant,p.Pro284Leu,ENST00000536178,;SH2B2,missense_variant,p.Pro241Leu,ENST00000306803,;SH2B2,missense_variant,p.Pro241Leu,ENST00000444095,;	896	69	45	SUCCESS
TMEM229A	730130	.	GRCh37	7	123672011	123672011	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	35	0	ENST00000455783.1:c.1047C>G	p.Ile349Met	p.I349M	ENST00000455783	NM_001136002.1	349	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS47694.1	1047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTGATGAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31746,hmmpanther:PTHR31746:SF2	.	.	ENSP00000395244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000455783	Transcript	.	.	ENSG00000234224	37279	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	T229A_HUMAN	TMEM229A	HGNC	.	.	UPI0001823FDC	SNV	TMEM229A,missense_variant,p.Ile349Met,ENST00000455783,;RP5-921G16.1,upstream_gene_variant,,ENST00000484322,;RP4-630C24.3,downstream_gene_variant,,ENST00000472838,;	1513	35	50	SUCCESS
VWDE	221806	.	GRCh37	7	12414692	12414692	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375551327	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	98	0	ENST00000275358.3:c.1186C>A	p.Gln396Lys	p.Q396K	ENST00000275358	NM_001135924.1	396	Caa/Aaa	0	T:0.0007	T:0.0053	.	T:0	.	T	Q/K	protein_coding	YES	CCDS47544.1	1186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGCACTA	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000275358	T:0	8/29	.	.	.	.	.	.	.	.	rs375551327	8/29	PASS	ENST00000275358	Transcript	.	T:0.0014	ENSG00000146530	21897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	T:0	tolerated(0.3)	.	VWDE_HUMAN	VWDE	HGNC	.	.	UPI00006C0B98	SNV	VWDE,missense_variant,p.Gln396Lys,ENST00000275358,;VWDE,missense_variant,p.Gln396Lys,ENST00000452576,;VWDE,intron_variant,,ENST00000521169,;VWDE,downstream_gene_variant,,ENST00000326715,;	1375	98	124	SUCCESS
ZPBP	11055	.	GRCh37	7	49977181	49977181	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	58	0	ENST00000046087.2:c.999A>T	p.Gly333=	p.G333=	ENST00000046087	NM_007009.2	333	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5509.1	999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATTCCATC	BUFFER|p.G333R|c.997G>A|5	.	.	hmmpanther:PTHR15443:SF5,hmmpanther:PTHR15443,Pfam_domain:PF07354	.	.	ENSP00000046087	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000046087	Transcript	.	.	ENSG00000042813	15662	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZPBP1_HUMAN	ZPBP	HGNC	.	.	UPI0000073BD0	SNV	ZPBP,synonymous_variant,p.%3D,ENST00000419417,;ZPBP,synonymous_variant,p.%3D,ENST00000046087,;ZPBP,intron_variant,,ENST00000491129,;ZPBP,upstream_gene_variant,,ENST00000465922,;AC096568.3,downstream_gene_variant,,ENST00000451274,;	1069	58	64	SUCCESS
RNF216	54476	.	GRCh37	7	5754691	5754691	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	49	0	ENST00000425013.2:c.1655C>G	p.Ser552Cys	p.S552C	ENST00000425013	NM_207111.3	552	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS34594.1	1826	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGATCCA	NONE	.	.	hmmpanther:PTHR22770:SF13,hmmpanther:PTHR22770,Superfamily_domains:SSF57850	.	.	ENSP00000374552	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000389902	Transcript	.	.	ENSG00000011275	21698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RN216_HUMAN	RNF216	HGNC	C9JIV3_HUMAN	.	UPI000013F5B3	SNV	RNF216,missense_variant,p.Ser609Cys,ENST00000389902,;RNF216,missense_variant,p.Ser552Cys,ENST00000425013,;RNF216,upstream_gene_variant,,ENST00000484458,;RNF216,3_prime_UTR_variant,,ENST00000389900,;	2094	49	56	SUCCESS
CCDC146	57639	.	GRCh37	7	76908085	76908085	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	51	113	0	ENST00000285871.4:c.1457T>C	p.Ile486Thr	p.I486T	ENST00000285871	NM_020879.2	486	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS34671.1	1457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACATTGTTA	BUFFER|p.E489*|c.1465G>T|3	.	.	hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	.	.	ENSP00000285871	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000285871	Transcript	.	.	ENSG00000135205	29296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.13)	.	CC146_HUMAN	CCDC146	HGNC	Q7Z4Q3_HUMAN	.	UPI000020F44F	SNV	CCDC146,missense_variant,p.Ile486Thr,ENST00000285871,;CCDC146,missense_variant,p.Ile200Thr,ENST00000431197,;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,upstream_gene_variant,,ENST00000464021,;CCDC146,upstream_gene_variant,,ENST00000461259,;CCDC146,upstream_gene_variant,,ENST00000474733,;	1584	113	138	SUCCESS
HHLA1	10086	.	GRCh37	8	133078139	133078139	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	13	80	0	ENST00000414222.1:c.1546T>A	p.Ser516Thr	p.S516T	ENST00000414222	NM_001145095.1	516	Tcg/Acg	0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGAGTGGG	NONE	.	3783	.	.	.	ENSP00000407107	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434736	Transcript	.	.	ENSG00000132297	4904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HHLA1	HGNC	C9JY47_HUMAN	.	UPI00021CEF49	SNV	HHLA1,missense_variant,p.Ser516Thr,ENST00000414222,;OC90,intron_variant,,ENST00000262283,;HHLA1,downstream_gene_variant,,ENST00000434736,;HHLA1,non_coding_transcript_exon_variant,,ENST00000473291,;	.	80	110	SUCCESS
SGCZ	137868	.	GRCh37	8	14181674	14181674	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1342150245	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	54	0	ENST00000382080.1:c.274C>T	p.Arg92Ter	p.R92*	ENST00000382080	NM_139167.2	92	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS5992.2	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCGGATTC	SITE|p.R92*|c.274C>T|3	.	.	Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5	.	.	ENSP00000371512	.	3/8	.	.	.	.	.	.	.	.	COSM181386	3/8	PASS	ENST00000382080	Transcript	.	.	ENSG00000185053	14075	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SGCZ_HUMAN	SGCZ	HGNC	.	.	UPI00002339F6	SNV	SGCZ,stop_gained,p.Arg92Ter,ENST00000382080,;SGCZ,intron_variant,,ENST00000421524,;RNU7-153P,downstream_gene_variant,,ENST00000516455,;	990	54	45	SUCCESS
IDO2	169355	.	GRCh37	8	39836668	39836668	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	38	0	ENST00000389060.4:c.278G>C	p.Gly93Ala	p.G93A	ENST00000389060		93	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	.	317	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGTTATG	NONE	.	.	Pfam_domain:PF01231,Superfamily_domains:SSF140959	.	.	ENSP00000443432	.	4/11	.	.	.	.	.	.	.	.	COSM486461,COSM486460	4/11	PASS	ENST00000502986	Transcript	.	.	ENSG00000188676	27269	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.854)	.	tolerated(0.39)	1,1	.	IDO2	HGNC	F5H5G0_HUMAN	.	UPI000152B4F4	SNV	IDO2,missense_variant,p.Gly93Ala,ENST00000389060,;IDO2,missense_variant,p.Gly106Ala,ENST00000502986,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO2,non_coding_transcript_exon_variant,,ENST00000343295,;	559	38	28	SUCCESS
RP1	6101	.	GRCh37	8	55539235	55539235	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	16	98	0	ENST00000220676.1:c.2793T>C	p.Pro931=	p.P931=	ENST00000220676	NM_006269.1	931	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6160.1	2793	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTATAAA	NONE	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,synonymous_variant,p.%3D,ENST00000220676,;	2941	98	109	SUCCESS
TRPA1	8989	.	GRCh37	8	72958753	72958753	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	11	53	0	ENST00000262209.4:c.2056C>A	p.Leu686Ile	p.L686I	ENST00000262209	NM_007332.2	686	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS34908.1	2056	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAGGGCTG	BUFFER|p.N687N|c.2061C>T|3	.	.	hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5	.	.	ENSP00000262209	.	17/27	.	.	.	.	.	.	.	.	.	17/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.079)	.	deleterious(0.02)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Leu538Ile,ENST00000523582,;TRPA1,missense_variant,p.Leu686Ile,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;TRPA1,non_coding_transcript_exon_variant,,ENST00000522271,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;	2264	53	102	SUCCESS
ASTN2	23245	.	GRCh37	9	119188314	119188314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	37	0	ENST00000313400.4:c.3836G>T	p.Ser1279Ile	p.S1279I	ENST00000313400		1279	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS6815.1	3683	RADIA|MUSE	.	GGAGGCTGGAG	NONE	.	.	hmmpanther:PTHR16592	.	.	ENSP00000354504	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000361209	Transcript	.	.	ENSG00000148219	17021	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.04)	.	ASTN2_HUMAN	ASTN2	HGNC	B7ZKP3_HUMAN,B2RCB6_HUMAN	.	UPI00002116D7	SNV	ASTN2,missense_variant,p.Ser1275Ile,ENST00000373996,;ASTN2,missense_variant,p.Ser380Ile,ENST00000288520,;ASTN2,missense_variant,p.Ser1279Ile,ENST00000313400,;ASTN2,missense_variant,p.Ser1228Ile,ENST00000361209,;ASTN2,missense_variant,p.Ser331Ile,ENST00000361477,;ASTN2,missense_variant,p.Ser331Ile,ENST00000341734,;ASTN2,missense_variant,p.Ser1002Ile,ENST00000373986,;	3815	37	24	SUCCESS
PRRC2B	84726	.	GRCh37	9	134357801	134357801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	33	117	0	ENST00000357304.4:c.5027G>T	p.Ser1676Ile	p.S1676I	ENST00000357304	NM_013318.3	1676	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS48044.1	5027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAGTGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	.	.	ENSP00000349856	.	20/31	.	.	.	.	.	.	.	.	.	20/31	PASS	ENST00000357304	Transcript	.	.	ENSG00000130723	28121	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,missense_variant,p.Ser409Ile,ENST00000451855,;PRRC2B,missense_variant,p.Ser982Ile,ENST00000458550,;PRRC2B,missense_variant,p.Ser1676Ile,ENST00000357304,;PRRC2B,missense_variant,p.Ser982Ile,ENST00000405995,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,upstream_gene_variant,,ENST00000320547,;SNORD62A,upstream_gene_variant,,ENST00000428514,;	5082	117	121	SUCCESS
SARDH	1757	.	GRCh37	9	136597702	136597702	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	29	0	ENST00000371872.4:c.353C>T	p.Pro118Leu	p.P118L	ENST00000371872	NM_007101.3	118	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6978.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGGCCGC	NONE	.	.	hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18,Pfam_domain:PF01266,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	.	.	ENSP00000360938	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000371872	Transcript	.	.	ENSG00000123453	10536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SARDH_HUMAN	SARDH	HGNC	Q5SYV1_HUMAN,B4DPI2_HUMAN	.	UPI000006F076	SNV	SARDH,missense_variant,p.Pro118Leu,ENST00000439388,;SARDH,missense_variant,p.Pro118Leu,ENST00000298628,;SARDH,missense_variant,p.Pro118Leu,ENST00000371872,;SARDH,missense_variant,p.Pro29Leu,ENST00000371867,;SARDH,missense_variant,p.Pro118Leu,ENST00000427237,;SARDH,5_prime_UTR_variant,,ENST00000422262,;	611	29	40	SUCCESS
TMEM2	0	.	GRCh37	9	74355007	74355007	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	40	0	ENST00000377044.4:c.1176T>C	p.Ser392=	p.S392=	ENST00000377044	NM_013390.2	392	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6638.1	1176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACAGAGAA	NONE	.	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17	.	.	ENSP00000366243	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000377044	Transcript	.	.	ENSG00000135048	11869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMEM2_HUMAN	TMEM2	HGNC	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN	.	UPI0000071E8D	SNV	TMEM2,synonymous_variant,p.%3D,ENST00000377066,;TMEM2,synonymous_variant,p.%3D,ENST00000377044,;TMEM2,synonymous_variant,p.%3D,ENST00000542935,;	1716	40	49	SUCCESS
GDA	9615	.	GRCh37	9	74843029	74843029	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	20	0	ENST00000358399.3:c.920+73C>G		p.*307*	ENST00000358399	NM_001242506.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56576.1	.	RADIA|SOMATICSNIPER|MUSE	.	TGTTTCCTCTG	NONE	.	.	.	.	.	ENSP00000238018	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000238018	Transcript	.	.	ENSG00000119125	4212	.	.	MODIFIER	9/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GUAD_HUMAN	GDA	HGNC	Q5SZC3_HUMAN,B4DIP8_HUMAN,B3KUM3_HUMAN	.	UPI000015828B	SNV	GDA,intron_variant,,ENST00000358399,;GDA,intron_variant,,ENST00000545168,;GDA,intron_variant,,ENST00000376986,;GDA,intron_variant,,ENST00000436438,;GDA,intron_variant,,ENST00000376989,;GDA,intron_variant,,ENST00000238018,;GDA,intron_variant,,ENST00000414671,;GDA,non_coding_transcript_exon_variant,,ENST00000477618,;GDA,intron_variant,,ENST00000475764,;GDA,intron_variant,,ENST00000489618,;	.	20	20	SUCCESS
RBMXL3	139804	.	GRCh37	X	114426338	114426338	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	13	0	ENST00000424776.3:c.2334C>A	p.Arg778=	p.R778=	ENST00000424776	NM_001145346.1	778	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS55478.1	2334	MUTECT|MUSE	.	GGCCGCTACGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,synonymous_variant,p.%3D,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	2376	13	15	SUCCESS
KLHL13	90293	.	GRCh37	X	117053617	117053617	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	61	159	0	ENST00000262820.3:c.437G>A	p.Arg146Lys	p.R146K	ENST00000262820	NM_033495.3	146	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS55480.1	446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCTTAGA	NONE	.	.	Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412:SF68,hmmpanther:PTHR24412,PROSITE_profiles:PS50097	.	.	ENSP00000443191	.	5/8	.	.	.	.	.	.	.	.	COSM3557121	5/8	PASS	ENST00000539496	Transcript	.	.	ENSG00000003096	22931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated(1)	1	KLH13_HUMAN	KLHL13	HGNC	Q96HC9_HUMAN,C9JTS9_HUMAN	.	UPI0001914B0F	SNV	KLHL13,missense_variant,p.Arg130Lys,ENST00000540167,;KLHL13,missense_variant,p.Arg95Lys,ENST00000469946,;KLHL13,missense_variant,p.Arg95Lys,ENST00000371876,;KLHL13,missense_variant,p.Arg149Lys,ENST00000539496,;KLHL13,missense_variant,p.Arg95Lys,ENST00000371878,;KLHL13,missense_variant,p.Arg104Lys,ENST00000545703,;KLHL13,missense_variant,p.Arg95Lys,ENST00000371882,;KLHL13,missense_variant,p.Arg130Lys,ENST00000541812,;KLHL13,missense_variant,p.Arg95Lys,ENST00000447671,;KLHL13,missense_variant,p.Arg146Lys,ENST00000262820,;KLHL13,downstream_gene_variant,,ENST00000453826,;	446	159	104	SUCCESS
MED14	9282	.	GRCh37	X	40562816	40562816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	79	203	0	ENST00000324817.1:c.1291A>G	p.Ile431Val	p.I431V	ENST00000324817	NM_004229.3	431	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS14254.1	1291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTATGGAAG	NONE	.	.	hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2	.	.	ENSP00000323720	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.4)	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,missense_variant,p.Ile431Val,ENST00000324817,;	1410	203	144	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4967709	4967709	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	135	223	1	ENST00000400457.2:c.2027A>T	p.Asp676Val	p.D676V	ENST00000400457	NM_032973.2	676	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS14777.1	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGATGTCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Asp697Val,ENST00000215473,;PCDH11Y,missense_variant,p.Asp686Val,ENST00000333703,;PCDH11Y,missense_variant,p.Asp676Val,ENST00000400457,;PCDH11Y,missense_variant,p.Asp697Val,ENST00000362095,;	2824	224	202	SUCCESS
HPSE2	60495	.	GRCh37	10	100995494	100995494	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	45	95	0	ENST00000370552.3:c.66A>T	p.Leu22=	p.L22=	ENST00000370552	NM_021828.4	22	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7477.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTAGGCA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000359583	.	1/12	.	.	.	.	.	.	.	.	COSM1745568,COSM1745569	1/12	PASS	ENST00000370552	Transcript	1	.	ENSG00000172987	18374	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	HPSE2_HUMAN	HPSE2	HGNC	.	.	UPI00001AEEC0	SNV	HPSE2,synonymous_variant,p.%3D,ENST00000404542,;HPSE2,synonymous_variant,p.%3D,ENST00000370552,;HPSE2,synonymous_variant,p.%3D,ENST00000370546,;HPSE2,synonymous_variant,p.%3D,ENST00000370549,;	126	95	94	SUCCESS
SEC31B	25956	.	GRCh37	10	102269083	102269083	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	19	63	0	ENST00000370345.3:c.389A>G	p.Asn130Ser	p.N130S	ENST00000370345	NM_015490.3	130	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS7495.1	389	RADIA|MUTECT|MUSE	.	AAGGATTCAAG	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000359370	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000370345	Transcript	.	.	ENSG00000075826	23197	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.893)	.	deleterious(0.01)	.	SC31B_HUMAN	SEC31B	HGNC	.	.	UPI0000070A8E	SNV	SEC31B,missense_variant,p.Asn130Ser,ENST00000370329,;SEC31B,missense_variant,p.Asn130Ser,ENST00000370345,;SEC31B,missense_variant,p.Asn130Ser,ENST00000451524,;NDUFB8,intron_variant,,ENST00000531258,;SEC31B,intron_variant,,ENST00000535773,;SEC31B,missense_variant,p.Asn130Ser,ENST00000469546,;SEC31B,missense_variant,p.Asn130Ser,ENST00000462434,;NDUFB8,3_prime_UTR_variant,,ENST00000529568,;NDUFB8,intron_variant,,ENST00000527595,;NDUFB8,intron_variant,,ENST00000557395,;SEC31B,intron_variant,,ENST00000479697,;SEC31B,intron_variant,,ENST00000480905,;SEC31B,intron_variant,,ENST00000482456,;SEC31B,upstream_gene_variant,,ENST00000490567,;SEC31B,upstream_gene_variant,,ENST00000484848,;	487	63	65	SUCCESS
IDI1	3422	.	GRCh37	10	1094803	1094803	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1331317313	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	47	0	ENST00000381344.3:c.140+1G>A		p.X47_splice	ENST00000381344	NM_004508.2	47		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7056.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTACCTGAT	NONE	.	.	.	.	.	ENSP00000370748	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381344	Transcript	.	.	ENSG00000067064	5387	.	.	HIGH	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDI1_HUMAN	IDI1	HGNC	C9JKM8_HUMAN	.	UPI0000231C9C	SNV	IDI1,splice_donor_variant,,ENST00000381344,;IDI1,5_prime_UTR_variant,,ENST00000429642,;IDI1,upstream_gene_variant,,ENST00000427898,;WDR37,upstream_gene_variant,,ENST00000358220,;IDI2-AS1,downstream_gene_variant,,ENST00000437374,;IDI2-AS1,downstream_gene_variant,,ENST00000428780,;IDI2-AS1,downstream_gene_variant,,ENST00000536039,;IDI1,splice_donor_variant,,ENST00000482091,;IDI1,splice_donor_variant,,ENST00000491735,;	.	47	42	SUCCESS
CTBP2	1488	.	GRCh37	10	126715391	126715391	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	24	65	0	ENST00000337195.5:c.58+12175A>T		p.*20*	ENST00000337195	NM_001329.2	313		0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS7644.1	938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTGCTGC	NONE	.	.	.	.	.	ENSP00000311825	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000309035	Transcript	.	.	ENSG00000175029	2495	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious_low_confidence(0.04)	.	CTBP2_HUMAN	CTBP2	HGNC	.	.	UPI000013EE11	SNV	CTBP2,missense_variant,p.Gln313Leu,ENST00000309035,;CTBP2,intron_variant,,ENST00000494626,;CTBP2,intron_variant,,ENST00000531469,;CTBP2,intron_variant,,ENST00000411419,;CTBP2,intron_variant,,ENST00000337195,;CTBP2,intron_variant,,ENST00000460976,;CTBP2,intron_variant,,ENST00000493552,;	1069	65	27	SUCCESS
PIP4K2A	5305	.	GRCh37	10	22829005	22829005	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	33	0	ENST00000376573.4:c.1037-2A>T		p.X346_splice	ENST00000376573	NM_005028.4	346		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7141.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCTGCAGA	NONE	.	.	.	.	.	ENSP00000365757	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376573	Transcript	1	.	ENSG00000150867	8997	.	.	HIGH	8/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PI42A_HUMAN	PIP4K2A	HGNC	S4R320_HUMAN,B4DGX2_HUMAN	.	UPI0000001052	SNV	PIP4K2A,splice_acceptor_variant,,ENST00000376573,;PIP4K2A,splice_acceptor_variant,,ENST00000545335,;PIP4K2A,splice_acceptor_variant,,ENST00000323883,;PIP4K2A,downstream_gene_variant,,ENST00000604912,;PIP4K2A,upstream_gene_variant,,ENST00000474335,;	.	33	43	SUCCESS
RAB18	22931	.	GRCh37	10	27793366	27793366	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	40	0	ENST00000356940.6:c.68G>C	p.Ser23Thr	p.S23T	ENST00000356940	NM_001256410.1	23	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS7155.1	68	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGGTGAG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF341,PROSITE_patterns:PS00675,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000349415	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000356940	Transcript	1	.	ENSG00000099246	14244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0.03)	.	RAB18_HUMAN	RAB18	HGNC	B7Z5V3_HUMAN	.	UPI0000000A00	SNV	RAB18,missense_variant,p.Ser23Thr,ENST00000356940,;RAB18,missense_variant,p.Ser23Thr,ENST00000375802,;RAB18,missense_variant,p.Ser23Thr,ENST00000535776,;RAB18,upstream_gene_variant,,ENST00000423465,;RAB18,splice_region_variant,,ENST00000465772,;RAB18,splice_region_variant,,ENST00000484281,;RAB18,intron_variant,,ENST00000490236,;	170	40	46	SUCCESS
OPN4	94233	.	GRCh37	10	88415951	88415951	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	42	94	0	ENST00000241891.5:c.184A>G	p.Thr62Ala	p.T62A	ENST00000241891	NM_033282.3	62	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS31237.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACGGTT	NONE	.	.	Superfamily_domains:SSF81321,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72	.	.	ENSP00000361141	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000372071	Transcript	.	.	ENSG00000122375	14449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious(0)	.	OPN4_HUMAN	OPN4	HGNC	.	.	UPI00001544ED	SNV	OPN4,missense_variant,p.Thr62Ala,ENST00000241891,;OPN4,missense_variant,p.Thr62Ala,ENST00000372071,;OPN4,missense_variant,p.Thr62Ala,ENST00000443292,;	411	94	98	SUCCESS
KIF20B	9585	.	GRCh37	10	91520384	91520384	+	synonymous_variant	Silent	SNP	T	T	C	rs749349671	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	50	85	1	ENST00000371728.3:c.4782T>C	p.Asn1594=	p.N1594=	ENST00000371728	NM_001284259.1	1594	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS7407.1	4662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATAAAAT	NONE	.	.	hmmpanther:PTHR23165	.	.	ENSP00000260753	.	28/33	.	.	.	.	.	.	.	.	rs749349671	28/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,synonymous_variant,p.%3D,ENST00000371728,;KIF20B,synonymous_variant,p.%3D,ENST00000416354,;KIF20B,synonymous_variant,p.%3D,ENST00000260753,;KIF20B,synonymous_variant,p.%3D,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	4734	86	101	SUCCESS
TUBB8	347688	.	GRCh37	10	93652	93652	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	18	0	ENST00000309812.4:c.680A>T	p.His227Leu	p.H227L	ENST00000309812	NM_177987.2	227	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS7051.1	680	RADIA|MUTECT|MUSE	.	CCAGGTGGTTC	NONE	.	.	Superfamily_domains:SSF52490,SMART_domains:SM00864,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.626)	.	deleterious_low_confidence(0)	.	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,missense_variant,p.His155Leu,ENST00000447903,;TUBB8,missense_variant,p.His227Leu,ENST00000309812,;TUBB8,3_prime_UTR_variant,,ENST00000332708,;TUBB8,non_coding_transcript_exon_variant,,ENST00000413237,;TUBB8,non_coding_transcript_exon_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	743	18	19	SUCCESS
CLMP	79827	.	GRCh37	11	122954395	122954395	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	58	0	ENST00000448775.2:c.549T>A	p.Ser183=	p.S183=	ENST00000448775	NM_024769.2	183	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8441.1	549	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTAGATTT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF73,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000405577	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000448775	Transcript	.	.	ENSG00000166250	24039	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLMP_HUMAN	CLMP	HGNC	.	.	UPI0000047815	SNV	CLMP,synonymous_variant,p.%3D,ENST00000448775,;CLMP,non_coding_transcript_exon_variant,,ENST00000530371,;CLMP,non_coding_transcript_exon_variant,,ENST00000529128,;CLMP,non_coding_transcript_exon_variant,,ENST00000527977,;	890	58	43	SUCCESS
GLB1L3	112937	.	GRCh37	11	134188589	134188589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	110	0	ENST00000431683.2:c.1844C>A	p.Pro615His	p.P615H	ENST00000431683	NM_001080407.2	615	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS44780.1	1844	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCCTCAGA	NONE	.	.	hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59,Gene3D:2.60.120.260,PIRSF_domain:PIRSF006336,Superfamily_domains:SSF49785	.	.	ENSP00000396615	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000431683	Transcript	.	.	ENSG00000166105	25147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLBL3_HUMAN	GLB1L3	HGNC	.	.	UPI0001633637	SNV	GLB1L3,missense_variant,p.Pro615His,ENST00000431683,;GLB1L3,3_prime_UTR_variant,,ENST00000455971,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000467068,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000498012,;GLB1L3,downstream_gene_variant,,ENST00000410100,;AP000859.4,upstream_gene_variant,,ENST00000525536,;	1844	110	80	SUCCESS
OR52R1	119695	.	GRCh37	11	4824853	4824853	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762936076	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	47	0	ENST00000356069.2:c.758C>A	p.Ala253Asp	p.A253D	ENST00000356069	NM_001005177.3	253	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS31360.2	758	RADIA|MUTECT|MUSE	.	AAAGAGCCAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000348368	.	1/1	.	.	.	.	.	.	.	.	rs762936076	1/1	PASS	ENST00000356069	Transcript	.	.	ENSG00000176937	15235	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	O52R1_HUMAN	OR52R1	HGNC	.	.	UPI0000140D5C	SNV	OR52R1,missense_variant,p.Ala332Asp,ENST00000380382,;OR52R1,missense_variant,p.Ala253Asp,ENST00000356069,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	758	47	52	SUCCESS
ESRRA	2101	.	GRCh37	11	64082579	64082579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	35	0	ENST00000000442.6:c.849G>T	p.Glu283Asp	p.E283D	ENST00000000442		283	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS41667.1	849	RADIA|MUSE|VARSCANS	.	GATGAGCTGGC	NONE	.	.	hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,SMART_domains:SM00430,PIRSF_domain:PIRSF500939,Superfamily_domains:SSF48508	.	.	ENSP00000384851	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000405666	Transcript	.	.	ENSG00000173153	3471	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.019)	.	tolerated(0.17)	.	ERR1_HUMAN	ESRRA	HGNC	Q96I02_HUMAN,Q96F89_HUMAN,Q569H8_HUMAN,F5H0E9_HUMAN,F5GWT5_HUMAN	.	UPI0000167B87	SNV	ESRRA,missense_variant,p.Glu64Asp,ENST00000545035,;ESRRA,missense_variant,p.Glu283Asp,ENST00000405666,;ESRRA,missense_variant,p.Glu283Asp,ENST00000000442,;ESRRA,missense_variant,p.Glu282Asp,ENST00000406310,;ESRRA,missense_variant,p.Glu140Asp,ENST00000539594,;TRMT112,downstream_gene_variant,,ENST00000544844,;PRDX5,upstream_gene_variant,,ENST00000265462,;TRMT112,downstream_gene_variant,,ENST00000535750,;TRMT112,downstream_gene_variant,,ENST00000308774,;PRDX5,upstream_gene_variant,,ENST00000352435,;PRDX5,upstream_gene_variant,,ENST00000347941,;TRMT112,downstream_gene_variant,,ENST00000539854,;TRMT112,downstream_gene_variant,,ENST00000535126,;ESRRA,intron_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,;	1083	35	38	SUCCESS
KLC2	64837	.	GRCh37	11	66029180	66029180	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	13	26	0	ENST00000316924.5:c.229-33G>T		p.*77*	ENST00000316924	NM_022822.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAGGCCTC	NONE	.	.	.	.	.	ENSP00000399403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000417856	Transcript	.	.	ENSG00000174996	20716	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC2_HUMAN	KLC2	HGNC	E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN	.	UPI0000001645	SNV	KLC2,5_prime_UTR_variant,,ENST00000394065,;KLC2,intron_variant,,ENST00000531240,;KLC2,intron_variant,,ENST00000417856,;KLC2,intron_variant,,ENST00000394078,;KLC2,intron_variant,,ENST00000394066,;KLC2,intron_variant,,ENST00000526758,;KLC2,intron_variant,,ENST00000421552,;KLC2,intron_variant,,ENST00000394067,;KLC2,intron_variant,,ENST00000461611,;KLC2,intron_variant,,ENST00000316924,;KLC2,intron_variant,,ENST00000440228,;KLC2,intron_variant,,ENST00000475757,;RP11-755F10.3,intron_variant,,ENST00000533576,;RP11-867G23.1,downstream_gene_variant,,ENST00000530805,;KLC2,upstream_gene_variant,,ENST00000483152,;KLC2,upstream_gene_variant,,ENST00000534023,;	.	26	17	SUCCESS
SYT9	143425	.	GRCh37	11	7437386	7437386	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	64	0	ENST00000318881.6:c.1158A>G	p.Gly386=	p.G386=	ENST00000318881	NM_175733.3	386	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS7778.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGAGCATC	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF174,PROSITE_profiles:PS50004	.	.	ENSP00000324419	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000318881	Transcript	.	.	ENSG00000170743	19265	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT9_HUMAN	SYT9	HGNC	.	.	UPI000000DB7B	SNV	SYT9,synonymous_variant,p.%3D,ENST00000318881,;SYT9,3_prime_UTR_variant,,ENST00000524820,;SYT9,3_prime_UTR_variant,,ENST00000532592,;	1395	64	47	SUCCESS
TRIM49	57093	.	GRCh37	11	89531677	89531677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	62	0	ENST00000329758.1:c.980G>A	p.Ser327Asn	p.S327N	ENST00000329758	NM_020358.2	327	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS8287.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAACTTCTA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000327604	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000329758	Transcript	.	.	ENSG00000168930	13431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.25)	.	TRI49_HUMAN	TRIM49	HGNC	I1YAQ5_HUMAN	.	UPI000013431B	SNV	TRIM49,missense_variant,p.Ser250Asn,ENST00000532501,;TRIM49,missense_variant,p.Ser327Asn,ENST00000329758,;	1309	62	48	SUCCESS
ANAPC5	51433	.	GRCh37	12	121779809	121779809	+	synonymous_variant	Silent	SNP	T	T	C	rs61757697	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	11	0	ENST00000261819.3:c.654A>G	p.Gln218=	p.Q218=	ENST00000261819	NM_016237.4	218	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS9220.1	654	RADIA|MUSE	.	ACCTGTTGAGA	NONE	.	.	hmmpanther:PTHR12830	.	.	ENSP00000261819	.	5/17	.	.	.	.	.	.	.	.	rs61757697	5/17	PASS	ENST00000261819	Transcript	.	.	ENSG00000089053	15713	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APC5_HUMAN	ANAPC5	HGNC	Q49A41_HUMAN,F5GZ05_HUMAN,F5GY68_HUMAN,B4DFK4_HUMAN	.	UPI000006DF80	SNV	ANAPC5,synonymous_variant,p.%3D,ENST00000544442,;ANAPC5,synonymous_variant,p.%3D,ENST00000344395,;ANAPC5,synonymous_variant,p.%3D,ENST00000541887,;ANAPC5,synonymous_variant,p.%3D,ENST00000261819,;ANAPC5,synonymous_variant,p.%3D,ENST00000441917,;ANAPC5,synonymous_variant,p.%3D,ENST00000536366,;ANAPC5,downstream_gene_variant,,ENST00000539871,;ANAPC5,downstream_gene_variant,,ENST00000536837,;ANAPC5,upstream_gene_variant,,ENST00000538223,;ANAPC5,downstream_gene_variant,,ENST00000536416,;ANAPC5,upstream_gene_variant,,ENST00000545218,;ANAPC5,upstream_gene_variant,,ENST00000535472,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000539612,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000534976,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000541652,;ANAPC5,upstream_gene_variant,,ENST00000539079,;ANAPC5,downstream_gene_variant,,ENST00000545801,;	776	11	11	SUCCESS
MPHOSPH9	10198	.	GRCh37	12	123702951	123702951	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	219	69	326	0	ENST00000606320.1:c.968A>T	p.Glu323Val	p.E323V	ENST00000606320	NM_022782.3	323	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	.	512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTCATTT	NONE	.	.	hmmpanther:PTHR14926:SF1,hmmpanther:PTHR14926	.	.	ENSP00000376220	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000392425	Transcript	.	.	ENSG00000051825	7215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.296)	.	deleterious(0)	.	MPP9_HUMAN	MPHOSPH9	HGNC	.	.	UPI00001D62B9	SNV	MPHOSPH9,missense_variant,p.Glu171Val,ENST00000302349,;MPHOSPH9,missense_variant,p.Glu293Val,ENST00000541076,;MPHOSPH9,missense_variant,p.Glu180Val,ENST00000539336,;MPHOSPH9,missense_variant,p.Glu323Val,ENST00000606320,;MPHOSPH9,missense_variant,p.Glu171Val,ENST00000392425,;MPHOSPH9,downstream_gene_variant,,ENST00000537854,;MPHOSPH9,downstream_gene_variant,,ENST00000541437,;MPHOSPH9,downstream_gene_variant,,ENST00000538169,;MPHOSPH9,downstream_gene_variant,,ENST00000539639,;MPHOSPH9,missense_variant,p.Glu191Val,ENST00000302373,;MPHOSPH9,missense_variant,p.Glu26Val,ENST00000539024,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,downstream_gene_variant,,ENST00000535049,;	619	326	289	SUCCESS
FOXM1	2305	.	GRCh37	12	2983155	2983155	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143720765	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	73	134	1	ENST00000359843.3:c.490C>T	p.Arg164Trp	p.R164W	ENST00000359843	NM_021953.3	164	Cgg/Tgg	0	A:0.0005	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS8516.1	490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGTTTCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF140	A:0	A:0.0008	ENSP00000342307	A:0.001	2/10	.	.	.	.	.	.	.	.	rs143720765,COSM1476487	2/10	common_in_exac	ENST00000342628	Transcript	.	A:0.0002	ENSG00000111206	3818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	A:0	tolerated(0.48)	0,1	FOXM1_HUMAN	FOXM1	HGNC	.	.	UPI000016B22B	SNV	FOXM1,missense_variant,p.Arg164Trp,ENST00000361953,;FOXM1,missense_variant,p.Arg164Trp,ENST00000342628,;FOXM1,missense_variant,p.Arg164Trp,ENST00000359843,;RHNO1,upstream_gene_variant,,ENST00000461997,;RHNO1,upstream_gene_variant,,ENST00000366285,;RHNO1,upstream_gene_variant,,ENST00000538700,;RHNO1,upstream_gene_variant,,ENST00000538636,;RHNO1,upstream_gene_variant,,ENST00000489288,;FOXM1,non_coding_transcript_exon_variant,,ENST00000537018,;RHNO1,upstream_gene_variant,,ENST00000536063,;RHNO1,upstream_gene_variant,,ENST00000464682,;FOXM1,missense_variant,p.Arg76Trp,ENST00000538564,;FOXM1,non_coding_transcript_exon_variant,,ENST00000545049,;TULP3,upstream_gene_variant,,ENST00000540184,;RHNO1,upstream_gene_variant,,ENST00000535978,;	604	135	131	SUCCESS
DENND5B	160518	.	GRCh37	12	31576572	31576572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	78	125	0	ENST00000389082.5:c.2429A>T	p.Gln810Leu	p.Q810L	ENST00000389082	NM_144973.3	810	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS44857.1	2429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTGAAAT	NONE	.	.	Pfam_domain:PF02759,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50826	.	.	ENSP00000373734	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	tolerated(0.17)	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,missense_variant,p.Gln845Leu,ENST00000536562,;DENND5B,missense_variant,p.Gln845Leu,ENST00000306833,;DENND5B,missense_variant,p.Gln810Leu,ENST00000389082,;DENND5B,downstream_gene_variant,,ENST00000537061,;	2694	125	123	SUCCESS
ZCRB1	85437	.	GRCh37	12	42711634	42711634	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	57	126	0	ENST00000266529.3:c.180T>C	p.Asp60=	p.D60=	ENST00000266529	NM_033114.3	60	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS8740.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTATCCAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139:SF52,hmmpanther:PTHR23139,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000266529	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000266529	Transcript	.	.	ENSG00000139168	29620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCRB1_HUMAN	ZCRB1	HGNC	Q05DR1_HUMAN,G3V1V1_HUMAN,F8VXY6_HUMAN	.	UPI00000467ED	SNV	ZCRB1,synonymous_variant,p.%3D,ENST00000552235,;ZCRB1,synonymous_variant,p.%3D,ENST00000266529,;ZCRB1,synonymous_variant,p.%3D,ENST00000552673,;PPHLN1,intron_variant,,ENST00000549190,;	364	126	92	SUCCESS
COL2A1	1280	.	GRCh37	12	48370680	48370680	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	50	0	ENST00000380518.3:c.3350A>T	p.Asp1117Val	p.D1117V	ENST00000380518	NM_033150.2	1117	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS41778.1	3350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTCACCT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58	.	.	ENSP00000369889	.	48/54	.	.	.	.	.	.	.	.	.	48/54	PASS	ENST00000380518	Transcript	.	.	ENSG00000139219	2200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO2A1_HUMAN	COL2A1	HGNC	.	.	UPI0000D79713	SNV	COL2A1,missense_variant,p.Asp1117Val,ENST00000380518,;COL2A1,missense_variant,p.Asp1048Val,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,non_coding_transcript_exon_variant,,ENST00000546974,;COL2A1,downstream_gene_variant,,ENST00000483376,;	3515	50	37	SUCCESS
KANSL2	54934	.	GRCh37	12	49061538	49061538	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	32	0	ENST00000420613.2:c.911C>A	p.Ala304Asp	p.A304D	ENST00000420613	NM_017822.3	304	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS44869.1	911	RADIA|MUSE	.	CAAAGGCCAAG	NONE	.	.	hmmpanther:PTHR13453,hmmpanther:PTHR13453:SF1,Pfam_domain:PF13891	.	.	ENSP00000415436	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000420613	Transcript	.	.	ENSG00000139620	26024	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.632)	.	tolerated(0.2)	.	KANL2_HUMAN	KANSL2	HGNC	F8VRX7_HUMAN,F8VP38_HUMAN	.	UPI00001FC0EA	SNV	KANSL2,missense_variant,p.Ala109Asp,ENST00000357861,;KANSL2,missense_variant,p.Ala304Asp,ENST00000420613,;KANSL2,missense_variant,p.Ala304Asp,ENST00000553086,;KANSL2,missense_variant,p.Ala487Asp,ENST00000550347,;KANSL2,missense_variant,p.Ala52Asp,ENST00000547087,;KANSL2,downstream_gene_variant,,ENST00000550931,;SNORA2B,upstream_gene_variant,,ENST00000384583,;KANSL2,missense_variant,p.Ala297Asp,ENST00000549574,;KANSL2,3_prime_UTR_variant,,ENST00000546701,;KANSL2,3_prime_UTR_variant,,ENST00000548147,;KANSL2,downstream_gene_variant,,ENST00000547536,;KANSL2,downstream_gene_variant,,ENST00000547582,;	959	32	21	SUCCESS
KMT2D	8085	.	GRCh37	12	49433836	49433836	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750309290	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	52	0	ENST00000301067.7:c.7717G>A	p.Gly2573Ser	p.G2573S	ENST00000301067	NM_003482.3	2573	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS44873.1	7717	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCCAAGG	NONE	byFrequency	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	31/54	.	.	.	.	.	.	.	.	rs750309290	31/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.954)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gly2573Ser,ENST00000301067,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000550356,;	7717	52	47	SUCCESS
KCNH3	23416	.	GRCh37	12	49943273	49943273	+	synonymous_variant	Silent	SNP	C	C	T	rs759915917	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	28	0	ENST00000257981.6:c.1518C>T	p.Arg506=	p.R506=	ENST00000257981	NM_012284.1	506	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8786.1	1518	MUTECT|MUSE	.	CAGCGCATGTA	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF481	.	.	ENSP00000257981	.	9/15	.	.	.	.	.	.	.	.	rs759915917	9/15	PASS	ENST00000257981	Transcript	.	.	ENSG00000135519	6252	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNH3_HUMAN	KCNH3	HGNC	Q8N500_HUMAN	.	UPI000012DCA6	SNV	KCNH3,synonymous_variant,p.%3D,ENST00000257981,;KCNH3,downstream_gene_variant,,ENST00000551415,;	1778	28	23	SUCCESS
CSAD	51380	.	GRCh37	12	53553988	53553988	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	27	0	ENST00000444623.1:c.1082A>C	p.Asp361Ala	p.D361A	ENST00000444623	NM_001244705.1	361	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS8848.2	1163	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGTCCACA	NONE	.	.	hmmpanther:PTHR11999:SF72,hmmpanther:PTHR11999,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000267085	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000267085	Transcript	.	.	ENSG00000139631	18966	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CSAD_HUMAN	CSAD	HGNC	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN	.	UPI0000E59693	SNV	CSAD,missense_variant,p.Asp361Ala,ENST00000444623,;CSAD,missense_variant,p.Asp388Ala,ENST00000267085,;CSAD,missense_variant,p.Asp214Ala,ENST00000379846,;CSAD,missense_variant,p.Asp214Ala,ENST00000379843,;CSAD,missense_variant,p.Asp387Ala,ENST00000379850,;CSAD,missense_variant,p.Asp361Ala,ENST00000453446,;CSAD,downstream_gene_variant,,ENST00000548698,;RP11-1136G11.8,non_coding_transcript_exon_variant,,ENST00000550908,;CSAD,3_prime_UTR_variant,,ENST00000475890,;CSAD,non_coding_transcript_exon_variant,,ENST00000490923,;CSAD,downstream_gene_variant,,ENST00000485004,;CSAD,downstream_gene_variant,,ENST00000483632,;CSAD,downstream_gene_variant,,ENST00000490589,;CSAD,downstream_gene_variant,,ENST00000472908,;	1397	27	27	SUCCESS
OR6C2	341416	.	GRCh37	12	55846722	55846722	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	44	166	0	ENST00000322678.1:c.725A>T	p.His242Leu	p.H242L	ENST00000322678	NM_054105.1	242	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS31824.1	725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCACATGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF48,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000323606	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322678	Transcript	.	.	ENSG00000179695	15436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	OR6C2_HUMAN	OR6C2	HGNC	.	.	UPI0000140EC9	SNV	OR6C2,missense_variant,p.His242Leu,ENST00000322678,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	725	166	126	SUCCESS
MDM2	4193	.	GRCh37	12	69233083	69233083	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs778582378	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	43	0	ENST00000462284.1:c.948A>C	p.Glu316Asp	p.E316D	ENST00000462284	NM_002392.5	316	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS8986.2	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAAATGAA	NONE	.	.	PROSITE_profiles:PS50199,hmmpanther:PTHR10360,hmmpanther:PTHR10360:SF11,PROSITE_patterns:PS01358,Pfam_domain:PF00641,PIRSF_domain:PIRSF500700,PIRSF_domain:PIRSF006748,Superfamily_domains:SSF90209	.	.	ENSP00000417281	.	11/11	.	.	.	.	.	.	.	.	rs778582378	11/11	PASS	ENST00000462284	Transcript	.	.	ENSG00000135679	6973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	.	deleterious(0.01)	.	MDM2_HUMAN	MDM2	HGNC	Q546E6_HUMAN,A8WFP2_HUMAN,A7UKY0_HUMAN	.	UPI00006CA35C	SNV	MDM2,missense_variant,p.Glu115Asp,ENST00000540827,;MDM2,missense_variant,p.Glu37Asp,ENST00000393413,;MDM2,missense_variant,p.Glu37Asp,ENST00000393412,;MDM2,missense_variant,p.Glu84Asp,ENST00000348801,;MDM2,missense_variant,p.Glu255Asp,ENST00000258149,;MDM2,missense_variant,p.Glu261Asp,ENST00000258148,;MDM2,missense_variant,p.Glu285Asp,ENST00000350057,;MDM2,missense_variant,p.Glu62Asp,ENST00000393410,;MDM2,missense_variant,p.Glu140Asp,ENST00000299252,;MDM2,missense_variant,p.Glu316Asp,ENST00000462284,;MDM2,missense_variant,p.Glu115Asp,ENST00000360430,;MDM2,missense_variant,p.Glu140Asp,ENST00000356290,;MDM2,missense_variant,p.Lys49Thr,ENST00000478070,;MDM2,missense_variant,p.Glu89Asp,ENST00000428863,;MDM2,missense_variant,p.Glu114Asp,ENST00000543323,;MDM2,missense_variant,p.Glu140Asp,ENST00000523991,;MDM2,intron_variant,,ENST00000517852,;MDM2,intron_variant,,ENST00000544561,;MDM2,intron_variant,,ENST00000545204,;MDM2,downstream_gene_variant,,ENST00000393415,;CPM,downstream_gene_variant,,ENST00000551897,;MDM2,downstream_gene_variant,,ENST00000539479,;RP11-611O2.5,downstream_gene_variant,,ENST00000553141,;MDM2,upstream_gene_variant,,ENST00000400501,;MDM2,upstream_gene_variant,,ENST00000544125,;MDM2,upstream_gene_variant,,ENST00000540709,;MDM2,3_prime_UTR_variant,,ENST00000542502,;MDM2,3_prime_UTR_variant,,ENST00000537182,;MDM2,3_prime_UTR_variant,,ENST00000540352,;MDM2,3_prime_UTR_variant,,ENST00000311420,;MDM2,3_prime_UTR_variant,,ENST00000496959,;MDM2,3_prime_UTR_variant,,ENST00000481186,;MDM2,3_prime_UTR_variant,,ENST00000393417,;MDM2,3_prime_UTR_variant,,ENST00000536089,;MDM2,intron_variant,,ENST00000546048,;CPM,downstream_gene_variant,,ENST00000546556,;RP11-611O2.3,upstream_gene_variant,,ENST00000537570,;	1250	43	28	SUCCESS
C12orf55	0	.	GRCh37	12	97045411	97045411	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs753379367	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	133	286	1	ENST00000524981.4:c.4918T>A	p.Cys1640Ser	p.C1640S	ENST00000524981		1640	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	.	4918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTGTCGG	NONE	.	.	.	.	.	ENSP00000431759	.	36/68	.	.	.	.	.	.	.	.	rs753379367	36/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Cys1640Ser,ENST00000524981,;C12orf55,downstream_gene_variant,,ENST00000550977,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	4941	287	214	SUCCESS
RTL1	388015	.	GRCh37	14	101350239	101350239	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	33	0	ENST00000534062.1:c.887A>T	p.Gln296Leu	p.Q296L	ENST00000534062	NM_001134888.2	296	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS53910.1	887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTGCCTG	NONE	.	.	Pfam_domain:PF03732,hmmpanther:PTHR15503	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,missense_variant,p.Gln296Leu,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR431,downstream_gene_variant,,ENST00000385266,;	946	33	29	SUCCESS
AHNAK2	113146	.	GRCh37	14	105414443	105414443	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751209190	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	57	0	ENST00000333244.5:c.7345G>T	p.Val2449Leu	p.V2449L	ENST00000333244	NM_138420.2	2449	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS45177.1	7345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGCTGG	BUFFER|p.S2448S|c.7344C>T|3	byFrequency	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	rs751209190	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Val2449Leu,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	7465	57	54	SUCCESS
KTN1	3895	.	GRCh37	14	56122805	56122805	+	synonymous_variant	Silent	SNP	A	A	G	rs143735954	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	117	231	0	ENST00000395314.3:c.2847A>G	p.Leu949=	p.L949=	ENST00000395314	NM_001079521.1	949	ctA/ctG	0	G:0	.	.	.	.	G	L	protein_coding	YES	CCDS41957.1	2847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTAAAAGA	NONE	byCluster	.	hmmpanther:PTHR18864,Coiled-coils_(Ncoils):Coil	.	G:0.0003	ENSP00000378725	.	29/44	.	.	.	.	.	.	.	.	rs143735954	29/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,synonymous_variant,p.%3D,ENST00000395308,;KTN1,synonymous_variant,p.%3D,ENST00000438792,;KTN1,synonymous_variant,p.%3D,ENST00000395309,;KTN1,synonymous_variant,p.%3D,ENST00000413890,;KTN1,synonymous_variant,p.%3D,ENST00000554507,;KTN1,synonymous_variant,p.%3D,ENST00000395311,;KTN1,synonymous_variant,p.%3D,ENST00000395314,;KTN1,synonymous_variant,p.%3D,ENST00000416613,;KTN1,upstream_gene_variant,,ENST00000554570,;KTN1,downstream_gene_variant,,ENST00000554890,;Y_RNA,downstream_gene_variant,,ENST00000363872,;KTN1,synonymous_variant,p.%3D,ENST00000459737,;KTN1,3_prime_UTR_variant,,ENST00000553360,;KTN1,non_coding_transcript_exon_variant,,ENST00000555164,;KTN1,upstream_gene_variant,,ENST00000554306,;	2915	232	255	SUCCESS
KCNK10	54207	.	GRCh37	14	88652001	88652001	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	113	201	0	ENST00000340700.5:c.1495T>A	p.Ser499Thr	p.S499T	ENST00000340700	NM_021161.4	499	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS9881.1	1510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGTTGT	NONE	.	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32	.	.	ENSP00000312811	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000319231	Transcript	.	.	ENSG00000100433	6273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.11)	.	KCNKA_HUMAN	KCNK10	HGNC	.	.	UPI000002A697	SNV	KCNK10,missense_variant,p.Ser504Thr,ENST00000312350,;KCNK10,missense_variant,p.Ser504Thr,ENST00000319231,;KCNK10,missense_variant,p.Ser499Thr,ENST00000340700,;	1961	201	237	SUCCESS
BCL11B	64919	.	GRCh37	14	99641711	99641711	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	22	0	ENST00000357195.3:c.1462T>A	p.Ser488Thr	p.S488T	ENST00000357195	NM_138576.2	488	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS9950.1	1462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGAGCGGC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0.02)	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,missense_variant,p.Ser294Thr,ENST00000443726,;BCL11B,missense_variant,p.Ser417Thr,ENST00000345514,;BCL11B,missense_variant,p.Ser488Thr,ENST00000357195,;	1472	22	21	SUCCESS
TUBGCP5	114791	.	GRCh37	15	22848918	22848918	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	26	58	0	ENST00000283645.4:c.965A>T	p.Gln322Leu	p.Q322L	ENST00000283645	NM_052903.4	322	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10008.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCAGGTTG	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF33,Pfam_domain:PF04130	.	.	ENSP00000283645	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000283645	Transcript	.	.	ENSG00000153575	18600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	deleterious(0)	.	GCP5_HUMAN	TUBGCP5	HGNC	.	.	UPI000012B2EE	SNV	TUBGCP5,missense_variant,p.Gln322Leu,ENST00000283645,;TUBGCP5,missense_variant,p.Gln322Leu,ENST00000453949,;TUBGCP5,downstream_gene_variant,,ENST00000558664,;TUBGCP5,non_coding_transcript_exon_variant,,ENST00000559846,;	1095	58	48	SUCCESS
FAM189A1	23359	.	GRCh37	15	29429300	29429300	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748122982	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	24	0	ENST00000261275.4:c.728C>T	p.Pro243Leu	p.P243L	ENST00000261275	NM_015307.1	243	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS45198.1	728	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTGGGGGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6	.	.	ENSP00000261275	.	6/11	.	.	.	.	.	.	.	.	rs748122982	6/11	PASS	ENST00000261275	Transcript	.	.	ENSG00000104059	29075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	F1891_HUMAN	FAM189A1	HGNC	H0YKM1_HUMAN	.	UPI0001641C10	SNV	FAM189A1,missense_variant,p.Pro243Leu,ENST00000261275,;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	728	24	20	SUCCESS
TGM7	116179	.	GRCh37	15	43574767	43574767	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	38	0	ENST00000452443.2:c.1056A>T	p.Pro352=	p.P352=	ENST00000452443	NM_052955.2	352	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32213.1	1056	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTGGTGG	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Gene3D:1ex0A02,Pfam_domain:PF01841,PIRSF_domain:PIRSF000459,SMART_domains:SM00460,Superfamily_domains:SSF54001	.	.	ENSP00000389466	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000452443	Transcript	.	.	ENSG00000159495	30790	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGM7_HUMAN	TGM7	HGNC	.	.	UPI0000049F68	SNV	TGM7,synonymous_variant,p.%3D,ENST00000452443,;	1061	38	38	SUCCESS
SMAD3	4088	.	GRCh37	15	67477190	67477190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	20	48	0	ENST00000327367.4:c.997A>G	p.Lys333Glu	p.K333E	ENST00000327367	NM_005902.3	333	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10222.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAAGATC	BUFFER|p.V331I|c.991G>A|3	.	.	Superfamily_domains:SSF49879,SMART_domains:SM00524,Gene3D:2.60.200.10,Pfam_domain:PF03166,hmmpanther:PTHR13703:SF25,hmmpanther:PTHR13703,PROSITE_profiles:PS51076	.	.	ENSP00000332973	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000327367	Transcript	1	.	ENSG00000166949	6769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0)	.	SMAD3_HUMAN	SMAD3	HGNC	Q68DS8_HUMAN,H3BP09_HUMAN,H0YNV1_HUMAN,H0YMP2_HUMAN,H0YL71_HUMAN,H0YKE2_HUMAN	.	UPI0000023A91	SNV	SMAD3,missense_variant,p.Lys333Glu,ENST00000327367,;SMAD3,missense_variant,p.Lys228Glu,ENST00000540846,;SMAD3,missense_variant,p.Lys289Glu,ENST00000439724,;SMAD3,missense_variant,p.Lys27Glu,ENST00000560424,;SMAD3,missense_variant,p.Lys138Glu,ENST00000537194,;SMAD3,intron_variant,,ENST00000558894,;SMAD3,downstream_gene_variant,,ENST00000558428,;SMAD3,downstream_gene_variant,,ENST00000558827,;SMAD3,intron_variant,,ENST00000560402,;SMAD3,upstream_gene_variant,,ENST00000558763,;	1307	48	35	SUCCESS
RPLP1	6176	.	GRCh37	15	69745186	69745186	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	26	0	ENST00000260379.6:c.-102C>T		p.*34*	ENST00000260379	NM_001003.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10233.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTCGGTCC	NONE	.	.	.	.	.	ENSP00000346037	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000260379	Transcript	.	.	ENSG00000137818	10372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RLA1_HUMAN	RPLP1	HGNC	Q7Z612_HUMAN	.	UPI0000134244	SNV	RPLP1,5_prime_UTR_variant,,ENST00000357790,;RPLP1,5_prime_UTR_variant,,ENST00000260379,;KIF23,downstream_gene_variant,,ENST00000260363,;KIF23,downstream_gene_variant,,ENST00000537891,;KIF23,downstream_gene_variant,,ENST00000558585,;KIF23,downstream_gene_variant,,ENST00000352331,;RPLP1,upstream_gene_variant,,ENST00000560274,;KIF23,downstream_gene_variant,,ENST00000559279,;KIF23,downstream_gene_variant,,ENST00000395392,;RPLP1,non_coding_transcript_exon_variant,,ENST00000487304,;RPLP1,upstream_gene_variant,,ENST00000488122,;KIF23,downstream_gene_variant,,ENST00000561089,;KIF23,downstream_gene_variant,,ENST00000558303,;	64	26	23	SUCCESS
HCN4	10021	.	GRCh37	15	73615218	73615218	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	23	0	ENST00000261917.3:c.3216C>T	p.Pro1072=	p.P1072=	ENST00000261917	NM_005477.2	1072	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10248.1	3216	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGGGGTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375	.	.	ENSP00000261917	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,synonymous_variant,p.%3D,ENST00000261917,;	4210	23	18	SUCCESS
ABCA3	21	.	GRCh37	16	2338103	2338103	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	31	0	ENST00000301732.5:c.2928C>A	p.Ser976=	p.S976=	ENST00000301732	NM_001089.2	976	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10466.1	2928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGAGGT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,Pfam_domain:PF12698	.	.	ENSP00000301732	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,synonymous_variant,p.%3D,ENST00000382381,;ABCA3,synonymous_variant,p.%3D,ENST00000301732,;ABCA3,upstream_gene_variant,,ENST00000569062,;ABCA3,downstream_gene_variant,,ENST00000563623,;ABCA3,upstream_gene_variant,,ENST00000566200,;	3629	31	21	SUCCESS
KIAA0556	0	.	GRCh37	16	27751968	27751968	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	26	0	ENST00000261588.4:c.2350T>A	p.Trp784Arg	p.W784R	ENST00000261588	NM_015202.2	784	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS32415.1	2350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTGGAAG	NONE	.	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534	.	.	ENSP00000261588	.	15/28	.	.	.	.	.	.	.	.	.	15/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.4)	.	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,missense_variant,p.Trp784Arg,ENST00000261588,;KIAA0556,intron_variant,,ENST00000573850,;	2369	26	23	SUCCESS
RNF40	9810	.	GRCh37	16	30779293	30779293	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770007658	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	46	0	ENST00000324685.6:c.1508G>A	p.Arg503Gln	p.R503Q	ENST00000324685	NM_014771.3	503	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS10691.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGATACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1	.	.	ENSP00000325677	.	12/20	.	.	.	.	.	.	.	.	rs770007658	12/20	PASS	ENST00000324685	Transcript	.	.	ENSG00000103549	16867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	BRE1B_HUMAN	RNF40	HGNC	I3L332_HUMAN,H3BUL6_HUMAN,H3BS50_HUMAN,H3BQ99_HUMAN,B4E313_HUMAN	.	UPI000013D2CF	SNV	RNF40,missense_variant,p.Arg463Gln,ENST00000563683,;RNF40,missense_variant,p.Arg403Gln,ENST00000357890,;RNF40,missense_variant,p.Arg503Gln,ENST00000324685,;RNF40,missense_variant,p.Arg195Gln,ENST00000402121,;RNF40,downstream_gene_variant,,ENST00000566811,;RNF40,downstream_gene_variant,,ENST00000565995,;RNF40,downstream_gene_variant,,ENST00000565931,;RNF40,downstream_gene_variant,,ENST00000563909,;RNF40,upstream_gene_variant,,ENST00000567365,;RNF40,non_coding_transcript_exon_variant,,ENST00000564260,;RNF40,non_coding_transcript_exon_variant,,ENST00000493683,;RNF40,downstream_gene_variant,,ENST00000566703,;	1943	46	47	SUCCESS
TRAP1	10131	.	GRCh37	16	3716009	3716009	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764205911	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	79	0	ENST00000246957.5:c.1346G>A	p.Arg449Gln	p.R449Q	ENST00000246957	NM_016292.2	449	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS10508.1	1346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCGCATG	NONE	byFrequency	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF24,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:SSF54211	.	.	ENSP00000246957	.	12/18	.	.	.	.	.	.	.	.	rs764205911	12/18	PASS	ENST00000246957	Transcript	.	.	ENSG00000126602	16264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	TRAP1_HUMAN	TRAP1	HGNC	I3L0P6_HUMAN,I3L0K7_HUMAN	.	UPI000013CC0A	SNV	TRAP1,missense_variant,p.Arg240Gln,ENST00000575671,;TRAP1,missense_variant,p.Arg396Gln,ENST00000538171,;TRAP1,missense_variant,p.Arg449Gln,ENST00000246957,;DNASE1,intron_variant,,ENST00000575479,;DNASE1,downstream_gene_variant,,ENST00000414110,;TRAP1,downstream_gene_variant,,ENST00000576335,;DNASE1,downstream_gene_variant,,ENST00000575152,;TRAP1,downstream_gene_variant,,ENST00000573872,;TRAP1,upstream_gene_variant,,ENST00000574494,;DNASE1,downstream_gene_variant,,ENST00000571460,;TRAP1,upstream_gene_variant,,ENST00000575707,;	1435	79	92	SUCCESS
SALL1	6299	.	GRCh37	16	51174758	51174758	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	51	0	ENST00000251020.4:c.1375G>A	p.Gly459Arg	p.G459R	ENST00000251020	NM_002968.2	459	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10747.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCAAAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000251020	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000251020	Transcript	.	.	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Gly459Arg,ENST00000251020,;SALL1,missense_variant,p.Gly362Arg,ENST00000570206,;SALL1,missense_variant,p.Gly362Arg,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	1409	51	50	SUCCESS
CES1	1066	.	GRCh37	16	55850865	55850865	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	50	0	ENST00000361503.4:c.913T>C	p.Ser305Pro	p.S305P	ENST00000361503		305	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS32450.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGATAAGA	NONE	.	.	hmmpanther:PTHR11559:SF179,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000353720	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000360526	Transcript	.	.	ENSG00000198848	1863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.34)	.	EST1_HUMAN	CES1	HGNC	B7Z795_HUMAN	.	UPI000054B390	SNV	CES1,missense_variant,p.Ser305Pro,ENST00000361503,;CES1,missense_variant,p.Ser306Pro,ENST00000360526,;CES1,missense_variant,p.Ser305Pro,ENST00000422046,;CES1,downstream_gene_variant,,ENST00000566555,;CES1,missense_variant,p.Ser20Pro,ENST00000569260,;CES1,downstream_gene_variant,,ENST00000563005,;CES1,upstream_gene_variant,,ENST00000565568,;CES1,downstream_gene_variant,,ENST00000565403,;	1019	50	56	SUCCESS
PLEKHG4	25894	.	GRCh37	16	67320230	67320230	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	43	0	ENST00000360461.5:c.2496T>C	p.Asp832=	p.D832=	ENST00000360461	NM_001129727.1	832	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS32466.1	2496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGATGCCCT	NONE	.	.	Superfamily_domains:SSF48065,SMART_domains:SM00325,Gene3D:1.20.900.10,Pfam_domain:PF00621,hmmpanther:PTHR22826:SF110,hmmpanther:PTHR22826,PROSITE_profiles:PS50010	.	.	ENSP00000353646	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000360461	Transcript	.	.	ENSG00000196155	24501	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHG4_HUMAN	PLEKHG4	HGNC	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN	.	UPI000013C774	SNV	PLEKHG4,synonymous_variant,p.%3D,ENST00000360461,;PLEKHG4,synonymous_variant,p.%3D,ENST00000379344,;PLEKHG4,synonymous_variant,p.%3D,ENST00000427155,;PLEKHG4,synonymous_variant,p.%3D,ENST00000450733,;KCTD19,downstream_gene_variant,,ENST00000304372,;PLEKHG4,upstream_gene_variant,,ENST00000569875,;KCTD19,downstream_gene_variant,,ENST00000562841,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,intron_variant,,ENST00000393966,;KCTD19,downstream_gene_variant,,ENST00000570049,;KCTD19,downstream_gene_variant,,ENST00000566392,;PLEKHG4,upstream_gene_variant,,ENST00000567136,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;KCTD19,downstream_gene_variant,,ENST00000569333,;	5031	43	60	SUCCESS
MTSS1L	0	.	GRCh37	16	70698128	70698128	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1597795293	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	25	0	ENST00000338779.6:c.1696C>T	p.Arg566Cys	p.R566C	ENST00000338779	NM_138383.2	566	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS32476.1	1696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGGCGGA	NONE	.	.	hmmpanther:PTHR15708:SF8,hmmpanther:PTHR15708	.	.	ENSP00000341171	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000338779	Transcript	.	.	ENSG00000132613	25094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MTSSL_HUMAN	MTSS1L	HGNC	.	.	UPI00001D627C	SNV	MTSS1L,missense_variant,p.Arg566Cys,ENST00000338779,;FLJ00418,5_prime_UTR_variant,,ENST00000597002,;IL34,downstream_gene_variant,,ENST00000288098,;IL34,downstream_gene_variant,,ENST00000429149,;IL34,downstream_gene_variant,,ENST00000566361,;	1971	25	38	SUCCESS
ATMIN	23300	.	GRCh37	16	81076059	81076059	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	29	0	ENST00000299575.4:c.636T>C	p.Thr212=	p.T212=	ENST00000299575	NM_015251.2	212	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS32494.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAACTGGGCA	NONE	.	.	hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF10,SMART_domains:SM00355	.	.	ENSP00000299575	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000299575	Transcript	.	.	ENSG00000166454	29034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATMIN_HUMAN	ATMIN	HGNC	J3QRX7_HUMAN,D3DUL0_HUMAN	.	UPI00001B2485	SNV	ATMIN,synonymous_variant,p.%3D,ENST00000566488,;ATMIN,synonymous_variant,p.%3D,ENST00000564241,;ATMIN,synonymous_variant,p.%3D,ENST00000299575,;ATMIN,downstream_gene_variant,,ENST00000565237,;ATMIN,intron_variant,,ENST00000539819,;ATMIN,downstream_gene_variant,,ENST00000562969,;	660	29	29	SUCCESS
PKD1L2	114780	.	GRCh37	16	81198264	81198264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	33	0	ENST00000525539.1:c.3330G>T	p.Glu1110Asp	p.E1110D	ENST00000525539	NM_052892.3	1110	gaG/gaT	0	.	.	.	.	.	A	.	retained_intron	.	.	.	MUSE|VARSCANS	.	ACGGGCTCCTG	NONE	.	.	.	.	.	.	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000299598	Transcript	.	.	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PKD1L2	HGNC	.	.	.	SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,upstream_gene_variant,,ENST00000529079,;PKD1L2,missense_variant,p.Glu1110Asp,ENST00000525539,;PKD1L2,missense_variant,p.Glu425Asp,ENST00000533478,;	2727	33	36	SUCCESS
PMP22	5376	.	GRCh37	17	15162456	15162456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	42	70	0	ENST00000312280.3:c.133T>C	p.Ser45Pro	p.S45P	ENST00000312280	NM_000304.3	45	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS11168.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGGTGC	NONE	.	.	hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF7,Pfam_domain:PF00822,Prints_domain:PR01458	.	.	ENSP00000379269	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000395938	Transcript	.	.	ENSG00000109099	9118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.21)	.	PMP22_HUMAN	PMP22	HGNC	Q6FH25_HUMAN,B4DUL1_HUMAN	.	UPI0000131C8E	SNV	PMP22,missense_variant,p.Ser45Pro,ENST00000426385,;PMP22,missense_variant,p.Ser45Pro,ENST00000395936,;PMP22,missense_variant,p.Ser45Pro,ENST00000395938,;PMP22,missense_variant,p.Ser45Pro,ENST00000312280,;PMP22,5_prime_UTR_variant,,ENST00000580584,;PMP22,intron_variant,,ENST00000494511,;RP11-849N15.1,upstream_gene_variant,,ENST00000579159,;PMP22,non_coding_transcript_exon_variant,,ENST00000580497,;PMP22,downstream_gene_variant,,ENST00000471150,;	328	70	47	SUCCESS
ULK2	9706	.	GRCh37	17	19698995	19698995	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	101	186	0	ENST00000361658.2:c.2041C>A	p.Pro681Thr	p.P681T	ENST00000361658	NM_001142610.1	681	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS11213.1	2041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGGAGTCT	NONE	.	.	hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18,PIRSF_domain:PIRSF000580	.	.	ENSP00000378914	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000395544	Transcript	.	.	ENSG00000083290	13480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.22)	.	ULK2_HUMAN	ULK2	HGNC	.	.	UPI000013D19B	SNV	ULK2,missense_variant,p.Pro681Thr,ENST00000395544,;ULK2,missense_variant,p.Pro681Thr,ENST00000361658,;ULK2,missense_variant,p.Pro27Thr,ENST00000575432,;ULK2,downstream_gene_variant,,ENST00000580130,;ULK2,non_coding_transcript_exon_variant,,ENST00000571137,;	2541	186	107	SUCCESS
RHBDL3	162494	.	GRCh37	17	30621329	30621329	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	51	104	0	ENST00000269051.4:c.536A>G	p.Tyr179Cys	p.Y179C	ENST00000269051	NM_138328.2	179	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32613.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTACAATG	NONE	.	.	hmmpanther:PTHR22936:SF14,hmmpanther:PTHR22936,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	.	.	ENSP00000269051	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000269051	Transcript	.	.	ENSG00000141314	16502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.23)	.	RHBL3_HUMAN	RHBDL3	HGNC	Q495Y4_HUMAN	.	UPI0000133858	SNV	RHBDL3,missense_variant,p.Tyr81Cys,ENST00000536287,;RHBDL3,missense_variant,p.Tyr171Cys,ENST00000538145,;RHBDL3,missense_variant,p.Tyr179Cys,ENST00000269051,;RHBDL3,missense_variant,p.Tyr179Cys,ENST00000431505,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;RHBDL3,intron_variant,,ENST00000582967,;	550	104	109	SUCCESS
UNC45B	146862	.	GRCh37	17	33504605	33504605	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	29	0	ENST00000268876.5:c.2237T>A	p.Leu746Gln	p.L746Q	ENST00000268876	NM_173167.2	746	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11292.1	2237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGTCTG	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Leu665Gln,ENST00000378449,;UNC45B,missense_variant,p.Leu744Gln,ENST00000433649,;UNC45B,missense_variant,p.Leu746Gln,ENST00000268876,;UNC45B,missense_variant,p.Leu665Gln,ENST00000591048,;UNC45B,missense_variant,p.Leu744Gln,ENST00000394570,;	2334	29	45	SUCCESS
KRT25	147183	.	GRCh37	17	38907463	38907463	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	83	0	ENST00000312150.4:c.785T>A	p.Leu262His	p.L262H	ENST00000312150	NM_181534.3	262	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11373.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAAGGGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF160	.	.	ENSP00000310573	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000312150	Transcript	.	.	ENSG00000204897	30839	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	K1C25_HUMAN	KRT25	HGNC	.	.	UPI000019B3C3	SNV	KRT25,missense_variant,p.Leu262His,ENST00000312150,;	846	83	69	SUCCESS
KRT31	3881	.	GRCh37	17	39550414	39550414	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	41	0	ENST00000251645.2:c.1105A>T	p.Ser369Cys	p.S369C	ENST00000251645	NM_002277.2	369	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS11391.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTGGGCA	NONE	.	.	hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	.	.	ENSP00000251645	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000251645	Transcript	.	.	ENSG00000094796	6448	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	K1H1_HUMAN	KRT31	HGNC	Q16275_HUMAN	.	UPI000006F564	SNV	KRT31,missense_variant,p.Ser369Cys,ENST00000251645,;	1158	41	51	SUCCESS
ADAM11	4185	.	GRCh37	17	42854925	42854925	+	synonymous_variant	Silent	SNP	C	C	T	rs779076826	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	59	0	ENST00000200557.6:c.1857C>T	p.Ile619=	p.I619=	ENST00000200557	NM_002390.4	619	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11486.1	1857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCAGTAG	NONE	.	.	hmmpanther:PTHR11905:SF114,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000200557	.	22/27	.	.	.	.	.	.	.	.	rs779076826	22/27	PASS	ENST00000200557	Transcript	.	.	ENSG00000073670	189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA11_HUMAN	ADAM11	HGNC	.	.	UPI000013C629	SNV	ADAM11,synonymous_variant,p.%3D,ENST00000535346,;ADAM11,synonymous_variant,p.%3D,ENST00000200557,;ADAM11,stop_gained,p.Gln517Ter,ENST00000587773,;ADAM11,3_prime_UTR_variant,,ENST00000355638,;ADAM11,non_coding_transcript_exon_variant,,ENST00000588363,;	2026	59	59	SUCCESS
KIF18B	146909	.	GRCh37	17	43010040	43010040	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	19	0	ENST00000593135.1:c.1238+1G>T		p.X413_splice	ENST00000593135	NM_001265577.1	413		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45709.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACTGTTC	NONE	.	.	.	.	.	ENSP00000465992	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000593135	Transcript	.	.	ENSG00000186185	27102	.	.	HIGH	9/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI18B_HUMAN	KIF18B	HGNC	.	.	UPI000192C418	SNV	KIF18B,splice_donor_variant,,ENST00000593135,;KIF18B,splice_donor_variant,,ENST00000590129,;KIF18B,splice_donor_variant,,ENST00000438933,;KIF18B,splice_donor_variant,,ENST00000587309,;KIF18B,splice_donor_variant,,ENST00000339151,;KIF18B,non_coding_transcript_exon_variant,,ENST00000585687,;	.	19	26	SUCCESS
OSBPL7	114881	.	GRCh37	17	45890656	45890656	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	22	0	ENST00000007414.3:c.1713A>G	p.Arg571=	p.R571=	ENST00000007414	NM_145798.2	571	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS11515.1	1713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTCGGTC	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972	.	.	ENSP00000007414	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000007414	Transcript	.	.	ENSG00000006025	16387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL7_HUMAN	OSBPL7	HGNC	J3QLK7_HUMAN	.	UPI0000130E98	SNV	OSBPL7,synonymous_variant,p.%3D,ENST00000392507,;OSBPL7,synonymous_variant,p.%3D,ENST00000007414,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,downstream_gene_variant,,ENST00000580140,;OSBPL7,upstream_gene_variant,,ENST00000578461,;OSBPL7,downstream_gene_variant,,ENST00000580808,;OSBPL7,downstream_gene_variant,,ENST00000584698,;	1905	22	28	SUCCESS
CD300LB	124599	.	GRCh37	17	72519756	72519756	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	69	0	ENST00000392621.1:c.516C>T	p.Thr172=	p.T172=	ENST00000392621	NM_174892.3	172	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	.	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGGTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF41	.	.	ENSP00000376397	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000392621	Transcript	.	.	ENSG00000178789	30811	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM7_HUMAN	CD300LB	HGNC	B4DQ71_HUMAN	.	UPI000013F7FE	SNV	CD300LB,synonymous_variant,p.%3D,ENST00000314401,;CD300LB,synonymous_variant,p.%3D,ENST00000392621,;	521	69	77	SUCCESS
UNK	85451	.	GRCh37	17	73805856	73805856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	42	0	ENST00000589666.1:c.120C>A	p.Phe40Leu	p.F40L	ENST00000589666	NM_001080419.2	40	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS45778.2	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCCGCAC	NONE	.	.	hmmpanther:PTHR14493,hmmpanther:PTHR14493:SF36	.	.	ENSP00000464893	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000589666	Transcript	.	.	ENSG00000132478	29369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	UNK_HUMAN	UNK	HGNC	.	.	UPI00001C1FC3	SNV	UNK,missense_variant,p.Phe40Leu,ENST00000589666,;UNK,missense_variant,p.Phe116Leu,ENST00000293218,;UNK,3_prime_UTR_variant,,ENST00000592629,;UNK,upstream_gene_variant,,ENST00000586217,;	230	42	51	SUCCESS
NETO1	81832	.	GRCh37	18	70417483	70417483	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	105	160	0	ENST00000327305.6:c.1355C>A	p.Ala452Asp	p.A452D	ENST00000327305	NM_138966.3	452	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS12000.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAAGCATCT	NONE	.	.	hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127	.	.	ENSP00000313088	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000327305	Transcript	.	.	ENSG00000166342	13823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious_low_confidence(0.04)	.	NETO1_HUMAN	NETO1	HGNC	.	.	UPI000013E59E	SNV	NETO1,missense_variant,p.Ala452Asp,ENST00000327305,;NETO1,missense_variant,p.Ala452Asp,ENST00000583169,;NETO1,missense_variant,p.Ala451Asp,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;	2013	160	183	SUCCESS
LYL1	4066	.	GRCh37	19	13211833	13211833	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	43	0	ENST00000264824.4:c.153C>T	p.Ser51=	p.S51=	ENST00000264824	NM_005583.4	51	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12292.1	153	RADIA|MUTECT|MUSE	.	GGCGAGGAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF13	.	.	ENSP00000264824	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000264824	Transcript	.	.	ENSG00000104903	6734	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LYL1_HUMAN	LYL1	HGNC	K7ER61_HUMAN	.	UPI000013D576	SNV	LYL1,synonymous_variant,p.%3D,ENST00000264824,;LYL1,5_prime_UTR_variant,,ENST00000590974,;TRMT1,downstream_gene_variant,,ENST00000437766,;TRMT1,downstream_gene_variant,,ENST00000592062,;NFIX,downstream_gene_variant,,ENST00000358552,;NFIX,downstream_gene_variant,,ENST00000397661,;TRMT1,downstream_gene_variant,,ENST00000357720,;NFIX,downstream_gene_variant,,ENST00000360105,;TRMT1,downstream_gene_variant,,ENST00000221504,;TRMT1,downstream_gene_variant,,ENST00000593157,;TRMT1,downstream_gene_variant,,ENST00000588511,;LYL1,downstream_gene_variant,,ENST00000590120,;	514	43	28	SUCCESS
UNC13A	23025	.	GRCh37	19	17716933	17716933	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	67	0	ENST00000519716.2:c.5042C>A	p.Ala1681Asp	p.A1681D	ENST00000519716	NM_001080421.2	1681	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS46013.2	5042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGCCACC	NONE	.	.	hmmpanther:PTHR10480	.	.	ENSP00000429562	.	44/44	.	.	.	.	.	.	.	.	.	44/44	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,missense_variant,p.Ala1681Asp,ENST00000252773,;UNC13A,missense_variant,p.Ala1681Asp,ENST00000519716,;UNC13A,missense_variant,p.Ala1675Asp,ENST00000552293,;UNC13A,missense_variant,p.Ala1654Asp,ENST00000550896,;UNC13A,missense_variant,p.Ala1700Asp,ENST00000551649,;UNC13A,missense_variant,p.Ala1769Asp,ENST00000428389,;UNC13A,downstream_gene_variant,,ENST00000523229,;UNC13A,downstream_gene_variant,,ENST00000517497,;	5042	67	47	SUCCESS
CRLF1	9244	.	GRCh37	19	18710417	18710417	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775855897	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	33	0	ENST00000392386.3:c.355C>A	p.Arg119Ser	p.R119S	ENST00000392386	NM_004750.4	119	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS32962.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACGGGCGT	NONE	byFrequency	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000376188	.	2/9	.	.	.	.	.	.	.	.	rs775855897,COSM1391702	2/9	PASS	ENST00000392386	Transcript	1	.	ENSG00000006016	2364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(0.19)	0,1	CRLF1_HUMAN	CRLF1	HGNC	.	.	UPI000000DA9E	SNV	CRLF1,missense_variant,p.Arg119Ser,ENST00000392386,;CRLF1,upstream_gene_variant,,ENST00000597131,;CRLF1,downstream_gene_variant,,ENST00000593286,;	549	33	37	SUCCESS
SUGP2	10147	.	GRCh37	19	19136956	19136956	+	synonymous_variant	Silent	SNP	T	T	A	rs144099788	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	26	0	ENST00000337018.6:c.201A>T	p.Gly67=	p.G67=	ENST00000337018	NM_014884.3	67	ggA/ggT	0	C:0.0002	.	.	.	.	A	G	protein_coding	YES	CCDS12392.1	201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGATCCACT	NONE	.	.	.	.	C:0	ENSP00000472286	.	3/10	.	.	.	.	.	.	.	.	rs144099788	3/10	PASS	ENST00000601879	Transcript	.	.	ENSG00000064607	18641	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUGP2_HUMAN	SUGP2	HGNC	M0R065_HUMAN	.	UPI000019825D	SNV	SUGP2,synonymous_variant,p.%3D,ENST00000594445,;SUGP2,synonymous_variant,p.%3D,ENST00000452918,;SUGP2,synonymous_variant,p.%3D,ENST00000337018,;SUGP2,synonymous_variant,p.%3D,ENST00000601879,;SUGP2,synonymous_variant,p.%3D,ENST00000600377,;SUGP2,5_prime_UTR_variant,,ENST00000456085,;SUGP2,non_coding_transcript_exon_variant,,ENST00000598202,;SUGP2,synonymous_variant,p.%3D,ENST00000330854,;SUGP2,synonymous_variant,p.%3D,ENST00000598240,;SUGP2,synonymous_variant,p.%3D,ENST00000594773,;SUGP2,synonymous_variant,p.%3D,ENST00000600239,;	499	26	21	SUCCESS
ZNF728	388523	.	GRCh37	19	23170107	23170107	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	37	0	ENST00000594710.1:c.226+3A>T		p.X76_splice	ENST00000594710	NM_001267716.1	76		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59370.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTACCTG	NONE	.	.	.	.	.	ENSP00000471593	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000594710	Transcript	.	.	ENSG00000269067	32463	.	.	LOW	3/3	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN728_HUMAN	ZNF728	HGNC	.	.	UPI0002656E4B	SNV	ZNF728,splice_region_variant,,ENST00000599851,;ZNF728,splice_region_variant,,ENST00000594710,;	.	37	26	SUCCESS
PAK4	10298	.	GRCh37	19	39664257	39664257	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	20	0	ENST00000358301.3:c.705G>T	p.Gly235=	p.G235=	ENST00000358301	NM_001014832.1	235	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12528.1	705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGGGCCT	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF181	.	.	ENSP00000469413	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000593690	Transcript	.	.	ENSG00000130669	16059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAK4_HUMAN	PAK4	HGNC	M0R2X4_HUMAN,B4DUG0_HUMAN	.	UPI0000001281	SNV	PAK4,synonymous_variant,p.%3D,ENST00000602004,;PAK4,synonymous_variant,p.%3D,ENST00000321944,;PAK4,synonymous_variant,p.%3D,ENST00000360442,;PAK4,synonymous_variant,p.%3D,ENST00000358301,;PAK4,synonymous_variant,p.%3D,ENST00000599470,;PAK4,synonymous_variant,p.%3D,ENST00000599657,;PAK4,synonymous_variant,p.%3D,ENST00000593690,;PAK4,synonymous_variant,p.%3D,ENST00000599386,;PAK4,synonymous_variant,p.%3D,ENST00000435673,;PAK4,downstream_gene_variant,,ENST00000593480,;PAK4,upstream_gene_variant,,ENST00000597715,;PAK4,upstream_gene_variant,,ENST00000600350,;	1132	20	25	SUCCESS
CARD8	22900	.	GRCh37	19	48734142	48734142	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	25	0	ENST00000391898.3:c.664C>G	p.Leu222Val	p.L222V	ENST00000391898	NM_001184900.1	222	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS54289.1	664	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGTCCA	NONE	.	.	Pfam_domain:PF13553	.	.	ENSP00000375767	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000391898	Transcript	.	.	ENSG00000105483	17057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.29)	.	CARD8_HUMAN	CARD8	HGNC	E5RGG3_HUMAN,E5RFV9_HUMAN	.	UPI000022A913	SNV	CARD8,missense_variant,p.Leu222Val,ENST00000519940,;CARD8,missense_variant,p.Leu222Val,ENST00000520015,;CARD8,missense_variant,p.Leu117Val,ENST00000359009,;CARD8,missense_variant,p.Leu222Val,ENST00000391898,;CARD8,missense_variant,p.Leu172Val,ENST00000447740,;CARD8,missense_variant,p.Leu172Val,ENST00000520153,;CARD8,missense_variant,p.Leu222Val,ENST00000520753,;CARD8,missense_variant,p.Leu172Val,ENST00000521613,;CARD8,5_prime_UTR_variant,,ENST00000357778,;ZNF114,intron_variant,,ENST00000597695,;CARD8,downstream_gene_variant,,ENST00000522889,;CARD8,downstream_gene_variant,,ENST00000523750,;CARD8,downstream_gene_variant,,ENST00000522068,;CARD8,downstream_gene_variant,,ENST00000517778,;CARD8,3_prime_UTR_variant,,ENST00000518979,;CARD8,3_prime_UTR_variant,,ENST00000517510,;CARD8,3_prime_UTR_variant,,ENST00000518622,;CARD8,3_prime_UTR_variant,,ENST00000519646,;CARD8,3_prime_UTR_variant,,ENST00000522773,;CARD8,3_prime_UTR_variant,,ENST00000521415,;CARD8,non_coding_transcript_exon_variant,,ENST00000377461,;CARD8,non_coding_transcript_exon_variant,,ENST00000522051,;CARD8,intron_variant,,ENST00000519302,;CARD8,downstream_gene_variant,,ENST00000518596,;CARD8,upstream_gene_variant,,ENST00000523668,;CARD8,downstream_gene_variant,,ENST00000521092,;CARD8,upstream_gene_variant,,ENST00000523579,;	707	25	25	SUCCESS
GRIN2D	2906	.	GRCh37	19	48925128	48925128	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	84	0	ENST00000263269.3:c.2178T>A	p.Tyr726Ter	p.Y726*	ENST00000263269	NM_000836.2	726	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS12719.1	2178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTATCCCGA	NONE	.	.	hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000263269	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000263269	Transcript	.	.	ENSG00000105464	4588	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDE4_HUMAN	GRIN2D	HGNC	.	.	UPI000013D3DA	SNV	GRIN2D,stop_gained,p.Tyr726Ter,ENST00000263269,;	2266	84	83	SUCCESS
SHANK1	50944	.	GRCh37	19	51169670	51169670	+	synonymous_variant	Silent	SNP	T	T	C	rs752256461	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	25	50	0	ENST00000293441.1:c.5547A>G	p.Pro1849=	p.P1849=	ENST00000293441	NM_016148.2	1849	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS12799.1	5547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGTGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135	.	.	ENSP00000293441	.	22/23	.	.	.	.	.	.	.	.	rs752256461	22/23	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,synonymous_variant,p.%3D,ENST00000391814,;SHANK1,synonymous_variant,p.%3D,ENST00000391813,;SHANK1,synonymous_variant,p.%3D,ENST00000359082,;SHANK1,synonymous_variant,p.%3D,ENST00000293441,;SYT3,intron_variant,,ENST00000544769,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,synonymous_variant,p.%3D,ENST00000468654,;	5566	50	48	SUCCESS
ZNF665	79788	.	GRCh37	19	53668959	53668959	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	65	0	ENST00000600412.1:c.589T>A	p.Tyr197Asn	p.Y197N	ENST00000600412		197	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS46169.1	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTAAGGTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396424	Transcript	.	.	ENSG00000197497	25885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,missense_variant,p.Tyr262Asn,ENST00000396424,;ZNF665,missense_variant,p.Tyr197Asn,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	874	65	79	SUCCESS
FUT5	2527	.	GRCh37	19	5866696	5866696	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	96	0	ENST00000252675.5:c.1041A>T	p.Ala347=	p.A347=	ENST00000252675		347	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12154.1	1041	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTGCCCA	NONE	.	.	hmmpanther:PTHR11929:SF137,hmmpanther:PTHR11929,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000252675	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000252675	Transcript	.	.	ENSG00000130383	4016	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT5_HUMAN	FUT5	HGNC	K7ENC0_HUMAN	.	UPI000013CD7B	SNV	FUT5,synonymous_variant,p.%3D,ENST00000252675,;FUT5,synonymous_variant,p.%3D,ENST00000588525,;AC024592.12,downstream_gene_variant,,ENST00000585661,;AC024592.12,downstream_gene_variant,,ENST00000586349,;AC024592.12,3_prime_UTR_variant,,ENST00000592091,;	1604	96	95	SUCCESS
VAV1	7409	.	GRCh37	19	6773000	6773000	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	65	0	ENST00000602142.1:c.182A>T	p.Asn61Ile	p.N61I	ENST00000602142	NM_005428.3	61	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS12174.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAACCTGC	NONE	.	.	PROSITE_profiles:PS50021,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF112,Gene3D:1.10.418.10,Pfam_domain:PF11971,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000472929	.	1/27	.	.	.	.	.	.	.	.	.	1/27	PASS	ENST00000602142	Transcript	.	.	ENSG00000141968	12657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	VAV_HUMAN	VAV1	HGNC	.	.	UPI0000138213	SNV	VAV1,missense_variant,p.Asn61Ile,ENST00000304076,;VAV1,missense_variant,p.Asn61Ile,ENST00000596764,;VAV1,missense_variant,p.Asn61Ile,ENST00000602142,;VAV1,5_prime_UTR_variant,,ENST00000539284,;	264	65	60	SUCCESS
FBXO44	93611	.	GRCh37	1	11718615	11718615	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1381865573	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	42	0	ENST00000251547.5:c.418G>A	p.Asp140Asn	p.D140N	ENST00000251547	NM_033182.5	140	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS132.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGACCTC	NONE	.	.	PROSITE_profiles:PS51114,hmmpanther:PTHR12125:SF11,hmmpanther:PTHR12125,Pfam_domain:PF04300,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	.	ENSP00000365961	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000376770	Transcript	.	.	ENSG00000132879	24847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.1)	.	FBX44_HUMAN	FBXO44	HGNC	B7Z1X4_HUMAN	.	UPI000013CD04	SNV	FBXO44,missense_variant,p.Gly130Glu,ENST00000376768,;FBXO44,missense_variant,p.Asp140Asn,ENST00000251547,;FBXO44,missense_variant,p.Gly6Glu,ENST00000471895,;FBXO44,missense_variant,p.Asp140Asn,ENST00000376770,;FBXO44,intron_variant,,ENST00000475435,;FBXO44,intron_variant,,ENST00000376762,;FBXO44,intron_variant,,ENST00000425796,;FBXO44,intron_variant,,ENST00000376760,;FBXO44,intron_variant,,ENST00000251546,;FBXO2,upstream_gene_variant,,ENST00000465901,;FBXO2,upstream_gene_variant,,ENST00000354287,;FBXO2,upstream_gene_variant,,ENST00000466919,;	916	42	35	SUCCESS
SPAG17	200162	.	GRCh37	1	118623785	118623785	+	synonymous_variant	Silent	SNP	A	A	G	rs772450473	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	61	139	0	ENST00000336338.5:c.2148T>C	p.Asp716=	p.D716=	ENST00000336338	NM_206996.2	716	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS899.1	2148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTATCAGG	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	15/49	.	.	.	.	.	.	.	.	rs772450473,COSM349736	15/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,synonymous_variant,p.%3D,ENST00000336338,;SPAG17,non_coding_transcript_exon_variant,,ENST00000473472,;SPAG17,non_coding_transcript_exon_variant,,ENST00000477444,;SPAG17,downstream_gene_variant,,ENST00000463628,;	2214	139	139	SUCCESS
ITGA10	8515	.	GRCh37	1	145532113	145532113	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	23	0	ENST00000369304.3:c.759-2A>T		p.X253_splice	ENST00000369304	NM_003637.3	253		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS918.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGCACA	NONE	.	.	.	.	.	ENSP00000358310	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369304	Transcript	.	.	ENSG00000143127	6135	.	.	HIGH	7/29	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ITA10_HUMAN	ITGA10	HGNC	.	.	UPI000013D8D1	SNV	ITGA10,splice_acceptor_variant,,ENST00000538811,;ITGA10,splice_acceptor_variant,,ENST00000539363,;ITGA10,splice_acceptor_variant,,ENST00000369304,;ITGA10,splice_acceptor_variant,,ENST00000481236,;ITGA10,downstream_gene_variant,,ENST00000468261,;	.	24	20	SUCCESS
VPS72	6944	.	GRCh37	1	151156881	151156881	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	49	0	ENST00000368892.4:c.474A>T	p.Arg158=	p.R158=	ENST00000368892	NM_001271088.1	158	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS59201.1	474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTTCGCCG	NONE	.	.	hmmpanther:PTHR13275,Pfam_domain:PF05764	.	.	ENSP00000346464	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000354473	Transcript	.	.	ENSG00000163159	11644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS72_HUMAN	VPS72	HGNC	.	.	UPI0000204210	SNV	VPS72,synonymous_variant,p.%3D,ENST00000368892,;VPS72,synonymous_variant,p.%3D,ENST00000354473,;VPS72,non_coding_transcript_exon_variant,,ENST00000496809,;VPS72,downstream_gene_variant,,ENST00000463470,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;VPS72,downstream_gene_variant,,ENST00000471423,;	511	49	67	SUCCESS
FLAD1	80308	.	GRCh37	1	154961247	154961247	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	38	0	ENST00000292180.3:c.1039C>A	p.Pro347Thr	p.P347T	ENST00000292180	NM_025207.4	347	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS1078.1	1039	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGCCCCAG	NONE	.	.	PIRSF_domain:PIRSF036620,hmmpanther:PTHR23293,hmmpanther:PTHR23293:SF9	.	.	ENSP00000292180	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000292180	Transcript	.	.	ENSG00000160688	24671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	FAD1_HUMAN	FLAD1	HGNC	Q5T196_HUMAN,Q5T190_HUMAN	.	UPI00000735B2	SNV	FLAD1,missense_variant,p.Pro250Thr,ENST00000315144,;FLAD1,missense_variant,p.Pro347Thr,ENST00000368433,;FLAD1,missense_variant,p.Pro248Thr,ENST00000405236,;FLAD1,missense_variant,p.Pro250Thr,ENST00000368432,;FLAD1,missense_variant,p.Pro80Thr,ENST00000295530,;FLAD1,missense_variant,p.Pro248Thr,ENST00000368431,;FLAD1,missense_variant,p.Pro347Thr,ENST00000292180,;FLAD1,5_prime_UTR_variant,,ENST00000368428,;LENEP,upstream_gene_variant,,ENST00000392487,;FLAD1,non_coding_transcript_exon_variant,,ENST00000489992,;FLAD1,downstream_gene_variant,,ENST00000487371,;FLAD1,upstream_gene_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000481758,;LENEP,upstream_gene_variant,,ENST00000368427,;	1361	38	65	SUCCESS
SPTA1	6708	.	GRCh37	1	158589013	158589013	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	100	0	ENST00000368147.4:c.6529A>C		p.X2177_splice	ENST00000368147	NM_003126.2	2177	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS41423.1	6529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTGGTTT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	45/52	.	.	.	.	.	.	.	.	.	45/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,synonymous_variant,p.%3D,ENST00000368147,;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000481212,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	6710	100	100	SUCCESS
SLAMF7	57823	.	GRCh37	1	160720138	160720138	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	66	189	1	ENST00000368043.3:c.694C>A	p.Leu232Met	p.L232M	ENST00000368043	NM_021181.3	232	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS1209.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12080:SF46,hmmpanther:PTHR12080	.	.	ENSP00000357022	.	4/7	.	.	.	.	.	.	.	.	COSM3476976	4/7	PASS	ENST00000368043	Transcript	.	.	ENSG00000026751	21394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.945)	.	deleterious(0.02)	1	SLAF7_HUMAN	SLAMF7	HGNC	.	.	UPI00000389DC	SNV	SLAMF7,missense_variant,p.Leu232Met,ENST00000359331,;SLAMF7,missense_variant,p.Leu232Met,ENST00000368043,;SLAMF7,missense_variant,p.Leu125Met,ENST00000368042,;SLAMF7,intron_variant,,ENST00000495334,;SLAMF7,intron_variant,,ENST00000458602,;SLAMF7,intron_variant,,ENST00000444090,;SLAMF7,intron_variant,,ENST00000458104,;SLAMF7,intron_variant,,ENST00000441662,;SLAMF7,downstream_gene_variant,,ENST00000488819,;SLAMF7,upstream_gene_variant,,ENST00000484221,;	731	190	170	SUCCESS
CROCC	9696	.	GRCh37	1	17280833	17280833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	29	54	0	ENST00000375541.5:c.3302G>T	p.Ser1101Ile	p.S1101I	ENST00000375541	NM_014675.3	1101	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS30616.1	3302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGCCGGC	NONE	.	.	hmmpanther:PTHR23159:SF11,hmmpanther:PTHR23159	.	.	ENSP00000364691	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000375541	Transcript	.	.	ENSG00000058453	21299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	.	.	CROCC_HUMAN	CROCC	HGNC	.	.	UPI00001AE5A0	SNV	CROCC,missense_variant,p.Ser961Ile,ENST00000445545,;CROCC,missense_variant,p.Ser1101Ile,ENST00000375541,;CROCC,non_coding_transcript_exon_variant,,ENST00000467938,;CROCC,downstream_gene_variant,,ENST00000498688,;CROCC,downstream_gene_variant,,ENST00000477773,;CROCC,downstream_gene_variant,,ENST00000486318,;CROCC,non_coding_transcript_exon_variant,,ENST00000494191,;CROCC,non_coding_transcript_exon_variant,,ENST00000497654,;	3371	54	65	SUCCESS
TNN	63923	.	GRCh37	1	175046732	175046732	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1023226246	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	45	73	0	ENST00000239462.4:c.178G>A	p.Ala60Thr	p.A60T	ENST00000239462	NM_022093.1	60	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS30943.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACGCTGAC	NONE	.	.	hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167	.	.	ENSP00000239462	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000239462	Transcript	.	.	ENSG00000120332	22942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.41)	.	TENN_HUMAN	TNN	HGNC	.	.	UPI00001D7DA9	SNV	TNN,missense_variant,p.Ala60Thr,ENST00000239462,;	291	73	89	SUCCESS
FAM163A	148753	.	GRCh37	1	179783084	179783084	+	synonymous_variant	Silent	SNP	T	T	C	rs757824959	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	43	0	ENST00000341785.4:c.264T>C	p.Cys88=	p.C88=	ENST00000341785	NM_173509.2	88	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS1333.1	264	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGTGGGGT	BUFFER|p.A91A|c.273C>G|3,BUFFER|p.A92G|c.275C>G|4	.	.	hmmpanther:PTHR31914,hmmpanther:PTHR31914:SF2,Pfam_domain:PF15069	.	.	ENSP00000354891	.	5/5	.	.	.	.	.	.	.	.	rs757824959	5/5	PASS	ENST00000341785	Transcript	.	.	ENSG00000143340	28274	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F163A_HUMAN	FAM163A	HGNC	.	.	UPI000006ED82	SNV	FAM163A,synonymous_variant,p.%3D,ENST00000341785,;RP11-12M5.3,downstream_gene_variant,,ENST00000453051,;RP11-12M5.3,downstream_gene_variant,,ENST00000415218,;	660	44	45	SUCCESS
KIAA1614	57710	.	GRCh37	1	180904469	180904469	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	28	0	ENST00000367588.4:c.1424T>A	p.Val475Glu	p.V475E	ENST00000367588	NM_020950.1	475	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS41442.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTGCTGA	NONE	.	.	hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000356560	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000367588	Transcript	.	.	ENSG00000135835	29327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	tolerated(0.07)	.	K1614_HUMAN	KIAA1614	HGNC	.	.	UPI00001C1D75	SNV	KIAA1614,missense_variant,p.Val475Glu,ENST00000367588,;KIAA1614,missense_variant,p.Val96Glu,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,;	1479	28	43	SUCCESS
HMCN1	83872	.	GRCh37	1	186056637	186056637	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs752694815	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	41	82	0	ENST00000271588.4:c.9223A>T	p.Thr3075Ser	p.T3075S	ENST00000271588	NM_031935.2	3075	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS30956.1	9223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAACTTCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	60/107	.	.	.	.	.	.	.	.	rs752694815	60/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.336)	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Thr3075Ser,ENST00000367492,;HMCN1,missense_variant,p.Thr3075Ser,ENST00000271588,;	9452	82	106	SUCCESS
C1orf27	0	.	GRCh37	1	186348970	186348970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	73	115	0	ENST00000287859.6:c.53T>A	p.Ile18Lys	p.I18K	ENST00000287859	NM_017847.5	18	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS53448.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATAAATC	NONE	.	.	hmmpanther:PTHR11695:SF474,hmmpanther:PTHR11695	.	.	ENSP00000287859	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000287859	Transcript	.	.	ENSG00000157181	24299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.305)	.	deleterious(0)	.	ODR4_HUMAN	C1orf27	HGNC	.	.	UPI00003744FF	SNV	C1orf27,missense_variant,p.Ile18Lys,ENST00000432021,;C1orf27,missense_variant,p.Ile18Lys,ENST00000419367,;C1orf27,missense_variant,p.Ile18Lys,ENST00000367470,;C1orf27,missense_variant,p.Ile18Lys,ENST00000287859,;TPR,upstream_gene_variant,,ENST00000367478,;TPR,upstream_gene_variant,,ENST00000451586,;TPR,upstream_gene_variant,,ENST00000474852,;	178	115	186	SUCCESS
FAIM3	0	.	GRCh37	1	207087190	207087190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	50	123	0	ENST00000367091.3:c.287A>G	p.Glu96Gly	p.E96G	ENST00000367091	NM_005449.4	96	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS1473.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTCTGTC	NONE	.	.	hmmpanther:PTHR11860:SF2,hmmpanther:PTHR11860,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000356058	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000367091	Transcript	.	.	ENSG00000162894	14315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0.02)	.	FAIM3_HUMAN	FAIM3	HGNC	E9PN59_HUMAN,E9PMT7_HUMAN	.	UPI0000070F7A	SNV	FAIM3,missense_variant,p.Glu96Gly,ENST00000525793,;FAIM3,missense_variant,p.Glu127Gly,ENST00000530505,;FAIM3,missense_variant,p.Glu96Gly,ENST00000420007,;FAIM3,missense_variant,p.Glu96Gly,ENST00000529560,;FAIM3,missense_variant,p.Glu96Gly,ENST00000367091,;FAIM3,intron_variant,,ENST00000442471,;FAIM3,intron_variant,,ENST00000528654,;FAIM3,non_coding_transcript_exon_variant,,ENST00000533312,;FAIM3,intron_variant,,ENST00000463473,;FAIM3,upstream_gene_variant,,ENST00000474041,;	431	123	179	SUCCESS
CD34	947	.	GRCh37	1	208063095	208063095	+	intron_variant	Intron	SNP	C	C	A	rs1329335850	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	35	70	0	ENST00000310833.7:c.598-129G>T		p.*200*	ENST00000310833	NM_001025109.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31011.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AATTCCAACAG	NONE	.	.	.	.	.	ENSP00000310036	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000310833	Transcript	.	.	ENSG00000174059	1662	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD34_HUMAN	CD34	HGNC	Q9UH97_HUMAN,Q8IUM0_HUMAN,B4DUX4_HUMAN	.	UPI000012734B	SNV	CD34,stop_gained,p.Gly30Ter,ENST00000367036,;CD34,intron_variant,,ENST00000356522,;CD34,intron_variant,,ENST00000537704,;CD34,intron_variant,,ENST00000310833,;CD34,intron_variant,,ENST00000485761,;	.	71	121	SUCCESS
KCNH1	3756	.	GRCh37	1	211093249	211093249	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	62	129	0	ENST00000271751.4:c.1195A>T	p.Ser399Cys	p.S399C	ENST00000271751		399	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1496.1	1195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTGTACC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000271751	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000271751	Transcript	.	.	ENSG00000143473	6250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0)	.	KCNH1_HUMAN	KCNH1	HGNC	.	.	UPI000003230D	SNV	KCNH1,missense_variant,p.Ser372Cys,ENST00000367007,;KCNH1,missense_variant,p.Ser399Cys,ENST00000271751,;	1223	129	207	SUCCESS
CDC42BPA	8476	.	GRCh37	1	227216680	227216680	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	26	0	ENST00000334218.5:c.4005C>A	p.Thr1335=	p.T1335=	ENST00000334218		1335	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1558.1	4005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGGGTCTT	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,Pfam_domain:PF00780,SMART_domains:SM00036,Superfamily_domains:0047732	.	.	ENSP00000355731	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000366769	Transcript	.	.	ENSG00000143776	1737	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRCKA_HUMAN	CDC42BPA	HGNC	Q9NYF6_HUMAN	.	UPI000019097D	SNV	CDC42BPA,synonymous_variant,p.%3D,ENST00000441725,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366767,;CDC42BPA,synonymous_variant,p.%3D,ENST00000429440,;CDC42BPA,synonymous_variant,p.%3D,ENST00000442054,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366769,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366765,;CDC42BPA,synonymous_variant,p.%3D,ENST00000448940,;CDC42BPA,synonymous_variant,p.%3D,ENST00000334218,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366764,;CDC42BPA,synonymous_variant,p.%3D,ENST00000366766,;CDC42BPA,synonymous_variant,p.%3D,ENST00000535525,;	5297	26	52	SUCCESS
OBSCN	84033	.	GRCh37	1	228528927	228528927	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	16	36	0	ENST00000422127.1:c.17829C>A	p.Val5943=	p.V5943=	ENST00000422127	NM_001098623.2	5943	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS59204.1	20700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTCAGCTA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000455507	.	84/116	.	.	.	.	.	.	.	.	COSM4029230,COSM4029231,COSM4029229	84/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,synonymous_variant,p.%3D,ENST00000366707,;OBSCN,synonymous_variant,p.%3D,ENST00000366709,;OBSCN,synonymous_variant,p.%3D,ENST00000284548,;OBSCN,synonymous_variant,p.%3D,ENST00000441106,;OBSCN,synonymous_variant,p.%3D,ENST00000422127,;OBSCN,synonymous_variant,p.%3D,ENST00000570156,;	20774	36	65	SUCCESS
NUP133	55746	.	GRCh37	1	229644045	229644045	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	33	0	ENST00000261396.3:c.-49A>G		p.*17*	ENST00000261396	NM_018230.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1579.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTTGCAGC	NONE	.	.	.	.	.	ENSP00000261396	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,5_prime_UTR_variant,,ENST00000537506,;NUP133,5_prime_UTR_variant,,ENST00000366678,;NUP133,5_prime_UTR_variant,,ENST00000261396,;RP4-613A2.1,upstream_gene_variant,,ENST00000417605,;	44	33	41	SUCCESS
CHML	1122	.	GRCh37	1	241799048	241799048	+	synonymous_variant	Silent	SNP	T	T	G	rs369552093	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	48	122	0	ENST00000366553.1:c.21A>C	p.Thr7=	p.T7=	ENST00000366553	NM_001821.3	7	acA/acC	0	G:0	.	.	.	.	G	T	protein_coding	YES	CCDS31073.1	21	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTGTGGG	NONE	.	.	hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,Gene3D:3.50.50.60,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905	.	G:0.0001	ENSP00000355511	.	1/1	.	.	.	.	.	.	.	.	rs369552093	1/1	PASS	ENST00000366553	Transcript	.	.	ENSG00000203668	1941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAE2_HUMAN	CHML	HGNC	.	.	UPI0000073C74	SNV	CHML,synonymous_variant,p.%3D,ENST00000366553,;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000366554,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;	185	122	183	SUCCESS
NR0B2	8431	.	GRCh37	1	27240140	27240140	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	35	50	1	ENST00000254227.3:c.292C>A	p.Leu98Ile	p.L98I	ENST00000254227	NM_021969.2	98	Ctt/Att	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS291.1	292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAGCAGGA	NONE	.	.	hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF0,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000254227	.	1/2	.	.	.	.	.	.	.	.	COSM907791	1/2	PASS	ENST00000254227	Transcript	.	.	ENSG00000131910	7961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.558)	.	deleterious(0.01)	1	NR0B2_HUMAN	NR0B2	HGNC	.	.	UPI0000135956	SNV	NR0B2,missense_variant,p.Leu98Ile,ENST00000254227,;NUDC,intron_variant,,ENST00000435827,;	318	51	55	SUCCESS
KIAA1522	57648	.	GRCh37	1	33235646	33235646	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	47	0	ENST00000373480.1:c.689A>T	p.Glu230Val	p.E230V	ENST00000373480	NM_001198972.1	230	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS41298.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGAGGCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF6	.	.	ENSP00000383851	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000401073	Transcript	.	.	ENSG00000162522	29301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	K1522_HUMAN	KIAA1522	HGNC	.	.	UPI000022ACD0	SNV	KIAA1522,missense_variant,p.Glu230Val,ENST00000373480,;KIAA1522,missense_variant,p.Glu241Val,ENST00000373481,;KIAA1522,missense_variant,p.Glu289Val,ENST00000401073,;KIAA1522,intron_variant,,ENST00000294521,;KIAA1522,downstream_gene_variant,,ENST00000468130,;	936	47	57	SUCCESS
MACF1	23499	.	GRCh37	1	39929343	39929343	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	58	85	0	ENST00000372915.3:c.21435A>C	p.Gly7145=	p.G7145=	ENST00000372915		7145	ggA/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS435.1	15561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGGAGAGAA	NONE	.	.	Superfamily_domains:0050058,SMART_domains:SM00243,Pfam_domain:PF02187,Gene3D:1v5rA00,PROSITE_profiles:PS51460	.	.	ENSP00000439537	.	90/94	.	.	.	.	.	.	.	.	.	90/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,synonymous_variant,p.%3D,ENST00000446276,;MACF1,synonymous_variant,p.%3D,ENST00000361689,;MACF1,synonymous_variant,p.%3D,ENST00000539005,;MACF1,synonymous_variant,p.%3D,ENST00000317713,;MACF1,synonymous_variant,p.%3D,ENST00000567887,;MACF1,synonymous_variant,p.%3D,ENST00000545844,;MACF1,synonymous_variant,p.%3D,ENST00000442046,;MACF1,synonymous_variant,p.%3D,ENST00000372925,;MACF1,synonymous_variant,p.%3D,ENST00000564288,;MACF1,synonymous_variant,p.%3D,ENST00000289893,;MACF1,synonymous_variant,p.%3D,ENST00000372915,;MACF1,synonymous_variant,p.%3D,ENST00000360115,;MACF1,synonymous_variant,p.%3D,ENST00000422234,;MACF1,non_coding_transcript_exon_variant,,ENST00000497964,;MACF1,non_coding_transcript_exon_variant,,ENST00000462496,;MACF1,upstream_gene_variant,,ENST00000496360,;MACF1,upstream_gene_variant,,ENST00000497807,;MACF1,upstream_gene_variant,,ENST00000462103,;	15669	85	121	SUCCESS
ATPAF1	64756	.	GRCh37	1	47110923	47110923	+	intron_variant	Intron	SNP	T	T	C	rs949379535	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	24	31	0	ENST00000574428.1:c.588+7330A>G		p.*196*	ENST00000574428		221		0	.	.	.	.	.	C	L	protein_coding	YES	CCDS541.2	663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACATAGAAA	NONE	.	.	Pfam_domain:PF06644,hmmpanther:PTHR13126	.	.	ENSP00000460964	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000576409	Transcript	.	.	ENSG00000123472	18803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ATPAF1	HGNC	I3L448_HUMAN	.	UPI000222BB4E	SNV	ATPAF1,synonymous_variant,p.%3D,ENST00000534216,;ATPAF1,synonymous_variant,p.%3D,ENST00000542495,;ATPAF1,synonymous_variant,p.%3D,ENST00000532925,;ATPAF1,synonymous_variant,p.%3D,ENST00000371937,;ATPAF1,synonymous_variant,p.%3D,ENST00000492233,;ATPAF1,synonymous_variant,p.%3D,ENST00000576409,;ATPAF1,intron_variant,,ENST00000574428,;ATPAF1,intron_variant,,ENST00000329231,;ATPAF1,intron_variant,,ENST00000526821,;ATPAF1,3_prime_UTR_variant,,ENST00000529214,;	726	31	37	SUCCESS
INADL	0	.	GRCh37	1	62516654	62516654	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	43	0	ENST00000371158.2:c.4049A>T	p.Glu1350Val	p.E1350V	ENST00000371158	NM_176877.2	1350	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS617.2	4049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGAACCTA	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964	.	.	ENSP00000360200	.	31/43	.	.	.	.	.	.	.	.	.	31/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	deleterious(0.05)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Glu1350Val,ENST00000371158,;INADL,missense_variant,p.Glu23Val,ENST00000545929,;INADL,missense_variant,p.Glu1350Val,ENST00000316485,;INADL,missense_variant,p.Glu134Val,ENST00000543708,;INADL,missense_variant,p.Glu134Val,ENST00000307297,;INADL,missense_variant,p.Glu809Val,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	4163	43	38	SUCCESS
C1orf180	0	.	GRCh37	1	85096333	85096333	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	42	69	0	ENST00000370624.1:c.336A>T	p.Ser112=	p.S112=	ENST00000370624		112	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	.	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTGAGGG	NONE	.	.	.	.	.	ENSP00000359658	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370624	Transcript	.	.	ENSG00000180869	26647	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA180_HUMAN	C1orf180	HGNC	.	.	UPI0000072020	SNV	C1orf180,synonymous_variant,p.%3D,ENST00000327308,;C1orf180,synonymous_variant,p.%3D,ENST00000370624,;	464	69	99	SUCCESS
ABCA4	24	.	GRCh37	1	94510167	94510167	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	74	0	ENST00000370225.3:c.3050+2T>G		p.X1017_splice	ENST00000370225	NM_000350.2	1017		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTACTGGT	NONE	.	.	.	.	.	ENSP00000359245	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	HIGH	20/49	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,splice_donor_variant,,ENST00000370225,;ABCA4,downstream_gene_variant,,ENST00000535735,;	.	74	78	SUCCESS
SIRPB1	10326	.	GRCh37	20	1551748	1551748	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	44	73	1	ENST00000381605.4:c.787A>G	p.Arg263Gly	p.R263G	ENST00000381605	NM_006065.3	263	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS13019.1	787	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTCATGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	.	.	ENSP00000371018	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000381605	Transcript	.	.	ENSG00000101307	15928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.38)	.	SIRB1_HUMAN	SIRPB1	HGNC	.	.	UPI000036700F	SNV	SIRPB1,missense_variant,p.Arg263Gly,ENST00000381605,;SIRPB1,missense_variant,p.Arg77Gly,ENST00000565076,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,intron_variant,,ENST00000567028,;SIRPB1,intron_variant,,ENST00000262929,;SIRPB1,intron_variant,,ENST00000563840,;SIRPB1,intron_variant,,ENST00000381603,;SIRPB1,intron_variant,,ENST00000569629,;	852	74	93	SUCCESS
TGM6	343641	.	GRCh37	20	2384055	2384055	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	51	0	ENST00000202625.2:c.1002C>G	p.Val334=	p.V334=	ENST00000202625	NM_198994.2	334	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS13025.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCTGGAA	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,Gene3D:1ex0A02,Pfam_domain:PF01841,SMART_domains:SM00460,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001	.	.	ENSP00000202625	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000202625	Transcript	1	.	ENSG00000166948	16255	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGM3L_HUMAN	TGM6	HGNC	.	.	UPI0000367011	SNV	TGM6,synonymous_variant,p.%3D,ENST00000381423,;TGM6,synonymous_variant,p.%3D,ENST00000202625,;TGM6,downstream_gene_variant,,ENST00000477505,;	1063	51	63	SUCCESS
PHF20	51230	.	GRCh37	20	34451299	34451299	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	71	0	ENST00000374012.3:c.785G>A	p.Arg262Lys	p.R262K	ENST00000374012		262	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS13268.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGACCCC	NONE	.	.	hmmpanther:PTHR15856:SF27,hmmpanther:PTHR15856,Pfam_domain:PF12618	.	.	ENSP00000363124	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000374012	Transcript	.	.	ENSG00000025293	16098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.02)	.	PHF20_HUMAN	PHF20	HGNC	Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN	.	UPI000006E61B	SNV	PHF20,missense_variant,p.Arg262Lys,ENST00000374012,;PHF20,missense_variant,p.Arg262Lys,ENST00000339089,;PHF20,missense_variant,p.Arg262Lys,ENST00000374000,;PHF20,synonymous_variant,p.%3D,ENST00000439301,;PHF20,downstream_gene_variant,,ENST00000449988,;PHF20,non_coding_transcript_exon_variant,,ENST00000480940,;PHF20,non_coding_transcript_exon_variant,,ENST00000461122,;PHF20,non_coding_transcript_exon_variant,,ENST00000481202,;PHF20,non_coding_transcript_exon_variant,,ENST00000486408,;PHF20,intron_variant,,ENST00000495338,;PHF20,downstream_gene_variant,,ENST00000496305,;	914	71	70	SUCCESS
SLA2	84174	.	GRCh37	20	35269645	35269645	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	21	23	0	ENST00000262866.4:c.91+3A>G		p.X31_splice	ENST00000262866	NM_175077.2	31		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13282.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTACCTG	NONE	.	.	.	.	.	ENSP00000262866	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262866	Transcript	.	.	ENSG00000101082	17329	.	.	LOW	2/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SLAP2_HUMAN	SLA2	HGNC	.	.	UPI000004B142	SNV	SLA2,splice_region_variant,,ENST00000262866,;SLA2,splice_region_variant,,ENST00000360672,;	.	23	35	SUCCESS
PI3	5266	.	GRCh37	20	43804641	43804641	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	42	65	0	ENST00000243924.3:c.219T>G	p.Pro73=	p.P73=	ENST00000243924	NM_002638.3	73	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS13344.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTGGCTC	NONE	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF19,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256,Prints_domain:PR00003	.	.	ENSP00000243924	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000243924	Transcript	.	.	ENSG00000124102	8947	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELAF_HUMAN	PI3	HGNC	.	.	UPI0000000CAE	SNV	PI3,synonymous_variant,p.%3D,ENST00000243924,;	266	65	79	SUCCESS
RBBP8NL	140893	.	GRCh37	20	60990663	60990663	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs190875685	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	62	0	ENST00000252998.1:c.598A>G	p.Thr200Ala	p.T200A	ENST00000252998	NM_080833.2	200	Acc/Gcc	0	.	C:0.0008	.	C:0.0072	.	C	T/A	protein_coding	YES	CCDS13498.1	598	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTGGCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1	C:0	.	ENSP00000252998	C:0	8/14	.	.	.	.	.	.	.	.	rs190875685	8/14	PASS	ENST00000252998	Transcript	.	C:0.0012	ENSG00000130701	16144	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	C:0	deleterious(0.03)	.	RB8NL_HUMAN	RBBP8NL	HGNC	.	.	UPI000013CDA2	SNV	RBBP8NL,missense_variant,p.Thr200Ala,ENST00000252998,;	755	62	74	SUCCESS
PLCB1	23236	.	GRCh37	20	8608977	8608977	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs199888561	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	54	79	0	ENST00000338037.6:c.283A>T	p.Ile95Phe	p.I95F	ENST00000338037	NM_015192.3	95	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS13102.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACATCGGG	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729	.	.	ENSP00000338185	.	4/32	.	.	.	.	.	.	.	.	rs199888561	4/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.7)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Ile95Phe,ENST00000378641,;PLCB1,missense_variant,p.Ile95Phe,ENST00000338037,;PLCB1,missense_variant,p.Ile94Phe,ENST00000404098,;PLCB1,missense_variant,p.Ile95Phe,ENST00000378637,;	310	79	111	SUCCESS
GRIK1-AS2	100379661	.	GRCh37	21	30968655	30968655	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	11	0	ENST00000333765.4:c.-17T>C		p.*6*	ENST00000333765				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	ACCTGTTTTCA	NONE	.	.	.	.	.	ENSP00000330087	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000333765	Transcript	.	.	ENSG00000183653	1282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GRIK1-AS2	HGNC	.	.	UPI0000072D97	SNV	GRIK1-AS2,5_prime_UTR_variant,,ENST00000333765,;GRIK1,intron_variant,,ENST00000327783,;BACH1,intron_variant,,ENST00000468059,;GRIK1,intron_variant,,ENST00000389124,;GRIK1,intron_variant,,ENST00000399914,;GRIK1,intron_variant,,ENST00000535441,;GRIK1,intron_variant,,ENST00000399907,;BACH1,intron_variant,,ENST00000422809,;GRIK1,intron_variant,,ENST00000399909,;GRIK1,intron_variant,,ENST00000399913,;GRIK1,intron_variant,,ENST00000309434,;GRIK1,intron_variant,,ENST00000389125,;BACH1,non_coding_transcript_exon_variant,,ENST00000462262,;GRIK1,downstream_gene_variant,,ENST00000472429,;	296	11	13	SUCCESS
DOPEY2	0	.	GRCh37	21	37618611	37618611	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	27	0	ENST00000399151.3:c.4333C>T	p.Leu1445=	p.L1445=	ENST00000399151	NM_005128.2	1445	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13643.1	4333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCTGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	19/37	.	.	.	.	.	.	.	.	.	19/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,synonymous_variant,p.%3D,ENST00000399151,;DOPEY2,non_coding_transcript_exon_variant,,ENST00000463668,;	4418	27	45	SUCCESS
COL18A1	80781	.	GRCh37	21	46911137	46911137	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	61	136	0	ENST00000359759.4:c.3313-2A>T		p.X1105_splice	ENST00000359759		1105		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42972.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGGGAG	NONE	.	.	.	.	.	ENSP00000347665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355480	Transcript	.	.	ENSG00000182871	2195	.	.	HIGH	20/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COIA1_HUMAN	COL18A1	HGNC	D3DSM5_HUMAN	.	UPI000016A19D	SNV	COL18A1,splice_acceptor_variant,,ENST00000359759,;COL18A1,splice_acceptor_variant,,ENST00000355480,;COL18A1,splice_acceptor_variant,,ENST00000342220,;COL18A1,splice_acceptor_variant,,ENST00000400337,;SLC19A1,downstream_gene_variant,,ENST00000417954,;COL18A1,upstream_gene_variant,,ENST00000459895,;	.	136	148	SUCCESS
P2RX6	9127	.	GRCh37	22	21369505	21369505	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	32	0	ENST00000413302.2:c.42A>T	p.Pro14=	p.P14=	ENST00000413302		14	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13788.2	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCAGGGGC	NONE	.	.	hmmpanther:PTHR10125:SF21,hmmpanther:PTHR10125	.	.	ENSP00000416193	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000413302	Transcript	.	.	ENSG00000099957	8538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RX6_HUMAN	P2RX6	HGNC	.	.	UPI000013C698	SNV	P2RX6,synonymous_variant,p.%3D,ENST00000401443,;P2RX6,synonymous_variant,p.%3D,ENST00000413302,;P2RX6,synonymous_variant,p.%3D,ENST00000402329,;P2RX6,synonymous_variant,p.%3D,ENST00000336296,;P2RX6,5_prime_UTR_variant,,ENST00000443995,;THAP7-AS1,downstream_gene_variant,,ENST00000452284,;P2RX6,intron_variant,,ENST00000591411,;TUBA3FP,upstream_gene_variant,,ENST00000292748,;TUBA3FP,upstream_gene_variant,,ENST00000422086,;P2RX6,synonymous_variant,p.%3D,ENST00000442475,;P2RX6,synonymous_variant,p.%3D,ENST00000432930,;P2RX6,synonymous_variant,p.%3D,ENST00000422210,;P2RX6,synonymous_variant,p.%3D,ENST00000452228,;P2RX6,non_coding_transcript_exon_variant,,ENST00000469722,;	190	32	38	SUCCESS
GPR45	11250	.	GRCh37	2	105858703	105858703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	56	108	0	ENST00000258456.1:c.388G>A	p.Val130Met	p.V130M	ENST00000258456	NM_007227.3	130	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS2066.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGTGGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000258456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000258456	Transcript	.	.	ENSG00000135973	4503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious(0.01)	.	GPR45_HUMAN	GPR45	HGNC	B5B0C1_HUMAN	.	UPI000013CFD3	SNV	GPR45,missense_variant,p.Val130Met,ENST00000258456,;	504	108	106	SUCCESS
UGGT1	56886	.	GRCh37	2	128870806	128870806	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	91	256	0	ENST00000259253.6:c.670A>T	p.Asn224Tyr	p.N224Y	ENST00000259253	NM_020120.3	224	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS2154.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCAATTAT	NONE	.	.	hmmpanther:PTHR11226:SF3,hmmpanther:PTHR11226	.	.	ENSP00000259253	.	6/41	.	.	.	.	.	.	.	.	.	6/41	PASS	ENST00000259253	Transcript	.	.	ENSG00000136731	15663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.304)	.	tolerated(0.07)	.	UGGG1_HUMAN	UGGT1	HGNC	.	.	UPI00000707D8	SNV	UGGT1,missense_variant,p.Asn224Tyr,ENST00000259253,;UGGT1,missense_variant,p.Asn200Tyr,ENST00000375990,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;UGGT1,3_prime_UTR_variant,,ENST00000438277,;	717	256	237	SUCCESS
TMEM163	81615	.	GRCh37	2	135260482	135260482	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	89	0	ENST00000281924.6:c.545T>C	p.Leu182Pro	p.L182P	ENST00000281924	NM_030923.4	182	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2172.1	545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAGCAGC	NONE	.	.	Superfamily_domains:0054606,Gene3D:3h90A01,hmmpanther:PTHR31937:SF2,hmmpanther:PTHR31937	.	.	ENSP00000281924	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000281924	Transcript	.	.	ENSG00000152128	25380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	tolerated(0.25)	.	TM163_HUMAN	TMEM163	HGNC	.	.	UPI000007217C	SNV	TMEM163,missense_variant,p.Leu182Pro,ENST00000281924,;	610	89	83	SUCCESS
NR4A2	4929	.	GRCh37	2	157186238	157186238	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	60	0	ENST00000339562.4:c.461A>T	p.Gln154Leu	p.Q154L	ENST00000339562	NM_006186.3	154	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2201.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTGGTGG	NONE	.	.	hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0	.	.	ENSP00000344479	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000339562	Transcript	.	.	ENSG00000153234	7981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.18)	.	NR4A2_HUMAN	NR4A2	HGNC	Q6NXU0_HUMAN,F1D8N6_HUMAN,C9JWQ1_HUMAN,C9IYM5_HUMAN	.	UPI0000036A18	SNV	NR4A2,missense_variant,p.Gln91Leu,ENST00000421709,;NR4A2,missense_variant,p.Gln154Leu,ENST00000409108,;NR4A2,missense_variant,p.Gln91Leu,ENST00000429376,;NR4A2,missense_variant,p.Gln165Leu,ENST00000539077,;NR4A2,missense_variant,p.Gln91Leu,ENST00000426264,;NR4A2,missense_variant,p.Gln154Leu,ENST00000424077,;NR4A2,missense_variant,p.Gln154Leu,ENST00000409572,;NR4A2,missense_variant,p.Gln154Leu,ENST00000339562,;NR4A2,intron_variant,,ENST00000406048,;NR4A2,missense_variant,p.Gln91Leu,ENST00000417764,;NR4A2,missense_variant,p.Gln91Leu,ENST00000417972,;	824	60	70	SUCCESS
DDX1	1653	.	GRCh37	2	15736869	15736869	+	synonymous_variant	Silent	SNP	A	A	T	rs766867235	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	216	445	1	ENST00000233084.3:c.144A>T	p.Thr48=	p.T48=	ENST00000233084	NM_004939.2	48	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1686.1	144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACAGGAAG	NONE	.	.	hmmpanther:PTHR24031:SF211,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000370745	.	5/27	.	.	.	.	.	.	.	.	rs766867235	5/27	PASS	ENST00000381341	Transcript	.	.	ENSG00000079785	2734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX1_HUMAN	DDX1	HGNC	B4DME8_HUMAN,A3RJH1_HUMAN	.	UPI00001290D1	SNV	DDX1,synonymous_variant,p.%3D,ENST00000381341,;DDX1,synonymous_variant,p.%3D,ENST00000233084,;DDX1,downstream_gene_variant,,ENST00000434671,;	533	446	484	SUCCESS
CWC22	57703	.	GRCh37	2	180851443	180851443	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	43	0	ENST00000410053.3:c.185A>G	p.Tyr62Cys	p.Y62C	ENST00000410053	NM_020943.2	62	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS46465.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCATAAGAA	NONE	.	.	hmmpanther:PTHR18034:SF3,hmmpanther:PTHR18034	.	.	ENSP00000387006	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000410053	Transcript	.	.	ENSG00000163510	29322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.471)	.	tolerated(0.15)	.	CWC22_HUMAN	CWC22	HGNC	B7WP74_HUMAN	.	UPI00001C1DAE	SNV	CWC22,missense_variant,p.Tyr62Cys,ENST00000404136,;CWC22,missense_variant,p.Tyr62Cys,ENST00000410053,;CWC22,missense_variant,p.Tyr62Cys,ENST00000295749,;	485	43	55	SUCCESS
MYT1L	23040	.	GRCh37	2	1843065	1843065	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	27	57	0	ENST00000399161.2:c.2936C>G	p.Pro979Arg	p.P979R	ENST00000399161	NM_015025.2	979	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS46222.1	2930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGGGGCAC	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	.	.	ENSP00000396103	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Pro979Arg,ENST00000399161,;MYT1L,missense_variant,p.Pro33Arg,ENST00000399157,;MYT1L,missense_variant,p.Pro977Arg,ENST00000428368,;MYT1L,5_prime_UTR_variant,,ENST00000407844,;MYT1L,non_coding_transcript_exon_variant,,ENST00000471668,;	3600	57	44	SUCCESS
FSIP2	401024	.	GRCh37	2	186670102	186670102	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	80	208	0	ENST00000424728.1:c.16069G>T	p.Glu5357Ter	p.E5357*	ENST00000424728		5357	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS54426.1	16336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATGAACAG	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,stop_gained,p.Glu5446Ter,ENST00000343098,;FSIP2,stop_gained,p.Glu5357Ter,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	16336	208	160	SUCCESS
APOB	338	.	GRCh37	2	21236253	21236253	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	57	0	ENST00000233242.1:c.3995C>G	p.Ser1332Cys	p.S1332C	ENST00000233242	NM_000384.2	1332	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS1703.1	3995	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGAGATGGC	BUFFER|p.F1328F|c.3984C>T|3	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.671)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Ser1332Cys,ENST00000233242,;	4123	57	50	SUCCESS
APOB	338	.	GRCh37	2	21255274	21255274	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	37	0	ENST00000233242.1:c.1304A>G	p.Asp435Gly	p.D435G	ENST00000233242	NM_000384.2	435	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS1703.1	1304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGATCCCTC	NONE	.	.	PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642	.	.	ENSP00000233242	.	10/29	.	.	.	.	.	.	.	.	.	10/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Asp435Gly,ENST00000233242,;APOB,missense_variant,p.Asp435Gly,ENST00000399256,;	1432	37	15	SUCCESS
TUBA4B	80086	.	GRCh37	2	220136440	220136440	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	36	0	ENST00000490341.1:n.910G>A		p.*304*	ENST00000490341				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGGCAAGT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000490341	Transcript	.	.	ENSG00000243910	18637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TUBA4B	HGNC	.	.	.	SNV	TUBA4A,intron_variant,,ENST00000398989,;TUBA4A,intron_variant,,ENST00000427737,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000485041,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000490341,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000473885,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000486997,;	910	36	41	SUCCESS
DOCK10	55619	.	GRCh37	2	225652011	225652011	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	70	0	ENST00000258390.7:c.5522A>T	p.Glu1841Val	p.E1841V	ENST00000258390	NM_014689.2	1841	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46528.1	5522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTCAAAG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	.	.	ENSP00000258390	.	49/56	.	.	.	.	.	.	.	.	.	49/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Glu1841Val,ENST00000258390,;DOCK10,missense_variant,p.Glu1835Val,ENST00000409592,;DOCK10,upstream_gene_variant,,ENST00000535663,;	5590	70	58	SUCCESS
THAP4	51078	.	GRCh37	2	242542471	242542471	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1301665750	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	22	0	ENST00000407315.1:c.1424C>T	p.Thr475Met	p.T475M	ENST00000407315	NM_015963.5	475	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS2551.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCGTGTCC	NONE	.	.	Superfamily_domains:SSF50814,Pfam_domain:PF08768,hmmpanther:PTHR15854,hmmpanther:PTHR15854:SF0	.	.	ENSP00000385006	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000407315	Transcript	.	.	ENSG00000176946	23187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	THAP4_HUMAN	THAP4	HGNC	.	.	UPI000018DBC4	SNV	THAP4,missense_variant,p.Thr475Met,ENST00000407315,;THAP4,missense_variant,p.Thr63Met,ENST00000402136,;THAP4,missense_variant,p.Thr63Met,ENST00000402545,;THAP4,upstream_gene_variant,,ENST00000497486,;THAP4,upstream_gene_variant,,ENST00000321679,;	1856	22	18	SUCCESS
NCOA1	8648	.	GRCh37	2	24881562	24881562	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	82	0	ENST00000348332.3:c.16G>T	p.Asp6Tyr	p.D6Y	ENST00000348332	NM_147233.2	6	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1712.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGGACAGT	NONE	.	.	hmmpanther:PTHR10684:SF1,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000385216	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000406961	Transcript	.	.	ENSG00000084676	7668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	NCOA1_HUMAN	NCOA1	HGNC	.	.	UPI000006E1F7	SNV	NCOA1,missense_variant,p.Asp6Tyr,ENST00000348332,;NCOA1,missense_variant,p.Asp6Tyr,ENST00000288599,;NCOA1,missense_variant,p.Asp6Tyr,ENST00000406961,;NCOA1,missense_variant,p.Asp6Tyr,ENST00000395856,;NCOA1,missense_variant,p.Asp6Tyr,ENST00000538539,;NCOA1,missense_variant,p.Asp6Tyr,ENST00000405141,;NCOA1,5_prime_UTR_variant,,ENST00000407230,;NCOA1,non_coding_transcript_exon_variant,,ENST00000483904,;	668	82	68	SUCCESS
PLB1	151056	.	GRCh37	2	28824137	28824137	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	34	75	0	ENST00000327757.5:c.2545G>A	p.Asp849Asn	p.D849N	ENST00000327757	NM_153021.4	849	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS33168.1	2545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGACTGG	NONE	.	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1,Gene3D:3.40.50.1110,Pfam_domain:PF00657,Superfamily_domains:SSF52266	.	.	ENSP00000330442	.	37/58	.	.	.	.	.	.	.	.	.	37/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,missense_variant,p.Asp849Asn,ENST00000327757,;PLB1,missense_variant,p.Asp838Asn,ENST00000422425,;PLB1,missense_variant,p.Asp837Asn,ENST00000404858,;PLB1,upstream_gene_variant,,ENST00000541605,;PLB1,upstream_gene_variant,,ENST00000411743,;PLB1,upstream_gene_variant,,ENST00000479065,;PLB1,upstream_gene_variant,,ENST00000444257,;	2589	75	72	SUCCESS
BIRC6	57448	.	GRCh37	2	32706429	32706429	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	103	198	0	ENST00000421745.2:c.7450G>C	p.Asp2484His	p.D2484H	ENST00000421745	NM_016252.3	2484	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS33175.2	7450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGACCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	38/74	.	.	.	.	.	.	.	.	.	38/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.75)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Asp2484His,ENST00000421745,;	7584	198	205	SUCCESS
TSPYL6	388951	.	GRCh37	2	54482488	54482488	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	47	70	0	ENST00000317802.7:c.801A>T	p.Arg267Ser	p.R267S	ENST00000317802	NM_001003937.2	267	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS42682.1	801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTCTAAT	NONE	.	.	Superfamily_domains:SSF143113,Pfam_domain:PF00956,hmmpanther:PTHR11875:SF29,hmmpanther:PTHR11875	.	.	ENSP00000417919	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317802	Transcript	.	.	ENSG00000178021	14521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.86)	.	TSYL6_HUMAN	TSPYL6	HGNC	.	.	UPI000006CF77	SNV	TSPYL6,missense_variant,p.Arg267Ser,ENST00000317802,;ACYP2,intron_variant,,ENST00000394666,;ACYP2,intron_variant,,ENST00000303536,;ACYP2,intron_variant,,ENST00000606865,;ACYP2,intron_variant,,ENST00000607452,;ACYP2,intron_variant,,ENST00000494922,;	922	70	89	SUCCESS
MXD1	4084	.	GRCh37	2	70165400	70165400	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765516764	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	67	0	ENST00000264444.2:c.650C>T	p.Ala217Val	p.A217V	ENST00000264444	NM_001202513.1	217	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1896.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGCGTGTC	NONE	byFrequency	.	hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF18	.	.	ENSP00000264444	.	6/6	.	.	.	.	.	.	.	.	rs765516764	6/6	PASS	ENST00000264444	Transcript	.	.	ENSG00000059728	6761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.25)	.	MAD1_HUMAN	MXD1	HGNC	C9JBE8_HUMAN,B7ZLI7_HUMAN	.	UPI0000035C7D	SNV	MXD1,missense_variant,p.Ala217Val,ENST00000264444,;MXD1,missense_variant,p.Ala207Val,ENST00000540449,;MXD1,downstream_gene_variant,,ENST00000435990,;MXD1,non_coding_transcript_exon_variant,,ENST00000465446,;MXD1,downstream_gene_variant,,ENST00000409442,;	910	67	73	SUCCESS
DZIP3	9666	.	GRCh37	3	108405433	108405433	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	39	189	0	ENST00000361582.3:c.3149+2T>A		p.X1050_splice	ENST00000361582	NM_014648.3	1050		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2952.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTACCTT	NONE	.	.	.	.	.	ENSP00000355028	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	HIGH	28/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,splice_donor_variant,,ENST00000463306,;DZIP3,splice_donor_variant,,ENST00000361582,;DZIP3,intron_variant,,ENST00000495008,;	.	190	143	SUCCESS
BTLA	151888	.	GRCh37	3	112190146	112190146	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	57	0	ENST00000334529.5:c.460C>A	p.Leu154Ile	p.L154I	ENST00000334529	NM_181780.3	154	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS33819.1	460	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCCAGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000333919	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000334529	Transcript	.	.	ENSG00000186265	21087	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	tolerated(0.43)	.	BTLA_HUMAN	BTLA	HGNC	.	.	UPI0000209F49	SNV	BTLA,missense_variant,p.Leu154Ile,ENST00000334529,;BTLA,intron_variant,,ENST00000383680,;BTLA,upstream_gene_variant,,ENST00000474965,;BTLA,upstream_gene_variant,,ENST00000496584,;	663	57	35	SUCCESS
POLQ	10721	.	GRCh37	3	121264699	121264699	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	31	0	ENST00000264233.5:c.26A>T	p.Lys9Ile	p.K9I	ENST00000264233	NM_199420.3	9	aAa/aTa	0	.	.	.	.	.	A	K/I	protein_coding	YES	CCDS33833.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGTTTCCCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000264233	.	1/30	.	.	.	.	.	.	.	.	.	1/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Lys9Ile,ENST00000264233,;	155	31	37	SUCCESS
ILDR1	286676	.	GRCh37	3	121712723	121712723	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	23	0	ENST00000344209.5:c.873A>T	p.Lys291Asn	p.K291N	ENST00000344209	NM_001199799.1	291	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS56271.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTTTCTC	NONE	.	.	hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3	.	.	ENSP00000345667	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000344209	Transcript	.	.	ENSG00000145103	28741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.49)	.	ILDR1_HUMAN	ILDR1	HGNC	.	.	UPI00003FF1E2	SNV	ILDR1,missense_variant,p.Lys202Asn,ENST00000393631,;ILDR1,missense_variant,p.Lys247Asn,ENST00000273691,;ILDR1,missense_variant,p.Lys291Asn,ENST00000344209,;ILDR1,missense_variant,p.Lys259Asn,ENST00000462014,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;	1000	23	26	SUCCESS
SLC12A8	84561	.	GRCh37	3	124826958	124826958	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	46	0	ENST00000393469.4:c.1072A>G	p.Lys358Glu	p.K358E	ENST00000393469	NM_001195483.1	358	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS43143.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTTGTTTG	NONE	.	.	hmmpanther:PTHR11827:SF2,hmmpanther:PTHR11827,Pfam_domain:PF00324	.	.	ENSP00000377112	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000393469	Transcript	.	.	ENSG00000221955	15595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.96)	.	deleterious(0)	.	S12A8_HUMAN	SLC12A8	HGNC	C9IZN2_HUMAN	.	UPI000049DFB2	SNV	SLC12A8,missense_variant,p.Lys159Glu,ENST00000430155,;SLC12A8,missense_variant,p.Lys111Glu,ENST00000314584,;SLC12A8,missense_variant,p.Lys358Glu,ENST00000393469,;SLC12A8,missense_variant,p.Lys358Glu,ENST00000469902,;SLC12A8,missense_variant,p.Lys387Glu,ENST00000423114,;SLC12A8,downstream_gene_variant,,ENST00000479826,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000465475,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000485849,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000495105,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000465777,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000479352,;SLC12A8,intron_variant,,ENST00000483944,;SLC12A8,upstream_gene_variant,,ENST00000461616,;SLC12A8,3_prime_UTR_variant,,ENST00000473262,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000479231,;SLC12A8,non_coding_transcript_exon_variant,,ENST00000485954,;	1122	46	48	SUCCESS
SLC41A3	54946	.	GRCh37	3	125769824	125769824	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	27	0	ENST00000315891.6:c.343A>T	p.Asn115Tyr	p.N115Y	ENST00000315891	NM_017836.3	115	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS33843.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTTCCCCT	NONE	.	.	hmmpanther:PTHR16228:SF22,hmmpanther:PTHR16228,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748	.	.	ENSP00000326070	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000315891	Transcript	.	.	ENSG00000114544	31046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S41A3_HUMAN	SLC41A3	HGNC	D6RF72_HUMAN,D6R9S7_HUMAN,D6R925_HUMAN	.	UPI000013D523	SNV	SLC41A3,missense_variant,p.Asn115Tyr,ENST00000360370,;SLC41A3,missense_variant,p.Asn89Tyr,ENST00000383598,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000507280,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000315891,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000512470,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000514891,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000510651,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000509064,;SLC41A3,missense_variant,p.Asn167Tyr,ENST00000513723,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000514677,;SLC41A3,missense_variant,p.Asn115Tyr,ENST00000504035,;SLC41A3,5_prime_UTR_variant,,ENST00000508835,;SLC41A3,intron_variant,,ENST00000514333,;SLC41A3,intron_variant,,ENST00000346785,;SLC41A3,intron_variant,,ENST00000514023,;SLC41A3,3_prime_UTR_variant,,ENST00000505996,;SLC41A3,5_prime_UTR_variant,,ENST00000507008,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000513464,;	582	27	23	SUCCESS
H1FOO	0	.	GRCh37	3	129266304	129266304	+	synonymous_variant	Silent	SNP	C	C	A	rs746578553	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	76	0	ENST00000324382.2:c.159C>A	p.Pro53=	p.P53=	ENST00000324382	NM_153833.1	53	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS3064.1	159	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCCCGGT	NONE	.	.	Superfamily_domains:SSF46785,SMART_domains:SM00526,Gene3D:1.10.10.10,Pfam_domain:PF00538,hmmpanther:PTHR11467:SF22,hmmpanther:PTHR11467,PROSITE_profiles:PS51504	.	.	ENSP00000319799	.	2/5	.	.	.	.	.	.	.	.	rs746578553	2/5	PASS	ENST00000324382	Transcript	.	.	ENSG00000178804	18463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H1FOO_HUMAN	H1FOO	HGNC	.	.	UPI000007414E	SNV	H1FOO,synonymous_variant,p.%3D,ENST00000324382,;H1FOO,upstream_gene_variant,,ENST00000503977,;	164	76	35	SUCCESS
FBLN2	2199	.	GRCh37	3	13612450	13612450	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs765973064	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	36	0	ENST00000295760.7:c.595T>G	p.Tyr199Asp	p.Y199D	ENST00000295760	NM_001998.2	199	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS46761.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTATGAC	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	.	.	ENSP00000384169	.	2/18	.	.	.	.	.	.	.	.	rs765973064	2/18	PASS	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	SNV	FBLN2,missense_variant,p.Tyr199Asp,ENST00000295760,;FBLN2,missense_variant,p.Tyr199Asp,ENST00000492059,;FBLN2,missense_variant,p.Tyr199Asp,ENST00000404922,;FBLN2,missense_variant,p.Tyr225Asp,ENST00000535798,;FBLN2,downstream_gene_variant,,ENST00000465610,;	714	36	57	SUCCESS
CLDN18	51208	.	GRCh37	3	137748665	137748665	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	30	100	0	ENST00000183605.5:c.530T>C	p.Val177Ala	p.V177A	ENST00000183605	NM_016369.3	177	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3095.1	530	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGTGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF9,Pfam_domain:PF00822,Prints_domain:PR01077	.	.	ENSP00000183605	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000183605	Transcript	.	.	ENSG00000066405	2039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CLD18_HUMAN	CLDN18	HGNC	.	.	UPI00000389FC	SNV	CLDN18,missense_variant,p.Val177Ala,ENST00000343735,;CLDN18,missense_variant,p.Val177Ala,ENST00000183605,;CLDN18,missense_variant,p.Trp138Arg,ENST00000479660,;	756	100	58	SUCCESS
DZIP1L	199221	.	GRCh37	3	137787109	137787109	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	80	0	ENST00000327532.2:c.1716A>C	p.Pro572=	p.P572=	ENST00000327532	NM_173543.2	572	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3096.1	1716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTTGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21502:SF8,hmmpanther:PTHR21502	.	.	ENSP00000332148	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000327532	Transcript	.	.	ENSG00000158163	26551	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZI1L_HUMAN	DZIP1L	HGNC	C9JRW2_HUMAN,C9JD19_HUMAN	.	UPI0000161A66	SNV	DZIP1L,synonymous_variant,p.%3D,ENST00000327532,;DZIP1L,downstream_gene_variant,,ENST00000469243,;DZIP1L,upstream_gene_variant,,ENST00000486487,;DZIP1L,downstream_gene_variant,,ENST00000488595,;	2079	80	69	SUCCESS
HTR3D	200909	.	GRCh37	3	183756700	183756700	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753477170	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	18	84	0	ENST00000382489.3:c.1302C>A	p.Phe434Leu	p.F434L	ENST00000382489	NM_001163646.1	434	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS54685.1	1302	RADIA|MUTECT|MUSE	.	CTCTTCCGCCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Superfamily_domains:SSF90112	.	.	ENSP00000371929	.	8/8	.	.	.	.	.	.	.	.	rs753477170	8/8	PASS	ENST00000382489	Transcript	.	.	ENSG00000186090	24004	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.677)	.	deleterious(0)	.	5HT3D_HUMAN	HTR3D	HGNC	.	.	UPI000024209D	SNV	HTR3D,missense_variant,p.Phe384Leu,ENST00000428798,;HTR3D,missense_variant,p.Phe259Leu,ENST00000334128,;HTR3D,missense_variant,p.Phe213Leu,ENST00000453435,;HTR3D,missense_variant,p.Phe434Leu,ENST00000382489,;	1302	84	75	SUCCESS
GLB1	2720	.	GRCh37	3	33110391	33110391	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	70	0	ENST00000307363.5:c.317A>T	p.Tyr106Phe	p.Y106F	ENST00000307363	NM_000404.2	106	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS43061.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATATTCC	NONE	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF006336,Pfam_domain:PF01301,Gene3D:3.20.20.80,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF61	.	.	ENSP00000306920	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000307363	Transcript	.	.	ENSG00000170266	4298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.55)	.	BGAL_HUMAN	GLB1	HGNC	C9JF15_HUMAN,C9J539_HUMAN	.	UPI0000E5A543	SNV	GLB1,missense_variant,p.Tyr76Phe,ENST00000399402,;GLB1,missense_variant,p.Tyr76Phe,ENST00000450835,;GLB1,missense_variant,p.Tyr106Phe,ENST00000307363,;GLB1,missense_variant,p.Tyr154Phe,ENST00000445488,;GLB1,5_prime_UTR_variant,,ENST00000440656,;GLB1,intron_variant,,ENST00000307377,;GLB1,intron_variant,,ENST00000415454,;GLB1,downstream_gene_variant,,ENST00000436768,;GLB1,non_coding_transcript_exon_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000498537,;GLB1,intron_variant,,ENST00000438227,;GLB1,intron_variant,,ENST00000446732,;	462	70	71	SUCCESS
STAC	6769	.	GRCh37	3	36485045	36485045	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	34	0	ENST00000273183.3:c.301C>G	p.Leu101Val	p.L101V	ENST00000273183	NM_003149.1	101	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2662.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTGCAT	NONE	.	.	hmmpanther:PTHR15135:SF3,hmmpanther:PTHR15135	.	.	ENSP00000273183	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000273183	Transcript	.	.	ENSG00000144681	11353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.23)	.	STAC_HUMAN	STAC	HGNC	B4DZ13_HUMAN	.	UPI0000136081	SNV	STAC,missense_variant,p.Leu90Val,ENST00000434649,;STAC,missense_variant,p.Leu101Val,ENST00000273183,;STAC,missense_variant,p.Leu101Val,ENST00000457375,;STAC,non_coding_transcript_exon_variant,,ENST00000476388,;STAC,non_coding_transcript_exon_variant,,ENST00000486143,;STAC,intron_variant,,ENST00000427486,;	601	34	37	SUCCESS
ITGA9	3680	.	GRCh37	3	37574811	37574811	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs530318185	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	20	39	0	ENST00000264741.5:c.1380G>T	p.Arg460Ser	p.R460S	ENST00000264741	NM_002207.2	460	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS2669.1	1380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGCCTGT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000264741	.	14/28	.	.	.	.	.	.	.	.	rs530318185	14/28	PASS	ENST00000264741	Transcript	.	.	ENSG00000144668	6145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,missense_variant,p.Arg460Ser,ENST00000264741,;ITGA9,missense_variant,p.Arg460Ser,ENST00000422441,;	1636	39	39	SUCCESS
MYD88	4615	.	GRCh37	3	38181897	38181897	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	54	0	ENST00000396334.3:c.521T>A	p.Phe174Tyr	p.F174Y	ENST00000396334	NM_002468.4	174	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS54565.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTTTCGATG	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR15079:SF2,hmmpanther:PTHR15079,Gene3D:3.40.50.10140,PIRSF_domain:PIRSF037756,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000401399	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000417037	Transcript	.	.	ENSG00000172936	7562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	.	tolerated(0.27)	.	.	MYD88	HGNC	J3KQJ6_HUMAN,H0Y4G9_HUMAN	.	UPI0000E5A580	SNV	MYD88,missense_variant,p.Phe174Tyr,ENST00000396334,;MYD88,missense_variant,p.Phe174Tyr,ENST00000417037,;MYD88,missense_variant,p.Phe129Tyr,ENST00000424893,;MYD88,missense_variant,p.Phe173Tyr,ENST00000421516,;MYD88,intron_variant,,ENST00000443433,;MYD88,intron_variant,,ENST00000495303,;ACAA1,upstream_gene_variant,,ENST00000333167,;ACAA1,upstream_gene_variant,,ENST00000421218,;ACAA1,upstream_gene_variant,,ENST00000444607,;ACAA1,upstream_gene_variant,,ENST00000544624,;ACAA1,upstream_gene_variant,,ENST00000450296,;ACAA1,upstream_gene_variant,,ENST00000301810,;MYD88,non_coding_transcript_exon_variant,,ENST00000463956,;MYD88,non_coding_transcript_exon_variant,,ENST00000481122,;MYD88,non_coding_transcript_exon_variant,,ENST00000460295,;MYD88,non_coding_transcript_exon_variant,,ENST00000484513,;MYD88,non_coding_transcript_exon_variant,,ENST00000416282,;ACAA1,upstream_gene_variant,,ENST00000411549,;ACAA1,upstream_gene_variant,,ENST00000460424,;ACAA1,upstream_gene_variant,,ENST00000423611,;ACAA1,upstream_gene_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000440176,;ACAA1,upstream_gene_variant,,ENST00000489559,;ACAA1,upstream_gene_variant,,ENST00000484284,;ACAA1,upstream_gene_variant,,ENST00000447223,;	705	54	78	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs121913396	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	66	117	0	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS2694.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACTCTG	SITE|p.D32V|c.95A>T|41,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.D32Y|c.94G>T|138,CODON|p.D32N|c.94G>A|92,CODON|p.D32H|c.94G>C|53,CODON|p.D32G|c.95A>G|72,CODON|p.D32A|c.95A>C|19,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5681,COSM5691,COSM5690	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.988)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	375	117	136	SUCCESS
ZKSCAN7	55888	.	GRCh37	3	44612664	44612665	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs1222208598	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	60	0	ENST00000273320.3:c.2067dup	p.Pro690ThrfsTer3	p.P690Tfs*3	ENST00000273320	NM_018651.2	688	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS2715.1	2062-2063	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGGGAAAAA	NONE	.	.	Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF205,PROSITE_profiles:PS50157	.	.	ENSP00000273320	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000273320	Transcript	.	.	ENSG00000196345	12955	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZKSC7_HUMAN	ZKSCAN7	HGNC	.	.	UPI000013D9A9	insertion	ZKSCAN7,frameshift_variant,p.Pro690ThrfsTer3,ENST00000273320,;ZKSCAN7,frameshift_variant,p.Pro690ThrfsTer3,ENST00000426540,;ZKSCAN7,intron_variant,,ENST00000431636,;ZKSCAN7,intron_variant,,ENST00000341840,;RP11-944L7.5,intron_variant,,ENST00000419137,;ZKSCAN7,intron_variant,,ENST00000447279,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZKSCAN7,downstream_gene_variant,,ENST00000496563,;ZKSCAN7,downstream_gene_variant,,ENST00000418719,;	2491-2492	60	68	SUCCESS
STAB1	23166	.	GRCh37	3	52558211	52558211	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	43	57	0	ENST00000321725.6:c.7638C>T	p.Thr2546=	p.T2546=	ENST00000321725	NM_015136.2	2546	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33768.1	7638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCTTTTG	NONE	.	.	hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	68/69	.	.	.	.	.	.	.	.	.	68/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,synonymous_variant,p.%3D,ENST00000321725,;STAB1,synonymous_variant,p.%3D,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000459839,;NT5DC2,downstream_gene_variant,,ENST00000422318,;NT5DC2,downstream_gene_variant,,ENST00000307076,;NT5DC2,downstream_gene_variant,,ENST00000471522,;NT5DC2,downstream_gene_variant,,ENST00000489316,;NT5DC2,downstream_gene_variant,,ENST00000307092,;NT5DC2,downstream_gene_variant,,ENST00000463947,;NT5DC2,downstream_gene_variant,,ENST00000487779,;NT5DC2,downstream_gene_variant,,ENST00000490681,;STAB1,non_coding_transcript_exon_variant,,ENST00000462741,;STAB1,downstream_gene_variant,,ENST00000461325,;NT5DC2,downstream_gene_variant,,ENST00000492555,;NT5DC2,downstream_gene_variant,,ENST00000479024,;NT5DC2,downstream_gene_variant,,ENST00000462261,;NT5DC2,downstream_gene_variant,,ENST00000478091,;STAB1,downstream_gene_variant,,ENST00000462681,;NT5DC2,downstream_gene_variant,,ENST00000466112,;NT5DC2,downstream_gene_variant,,ENST00000486792,;STAB1,downstream_gene_variant,,ENST00000481626,;NT5DC2,downstream_gene_variant,,ENST00000469616,;	7714	57	77	SUCCESS
FRMD4B	23150	.	GRCh37	3	69221075	69221075	+	synonymous_variant	Silent	SNP	G	G	A	rs373666395	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	160	0	ENST00000398540.3:c.3042C>T	p.Asn1014=	p.N1014=	ENST00000398540	NM_015123.1	1014	aaC/aaT	0	T:0.0003	.	.	.	.	A	N	protein_coding	YES	CCDS46863.1	3042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGTTGTC	NONE	byCluster	.	hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281	.	T:0	ENSP00000381549	.	23/23	.	.	.	.	.	.	.	.	rs373666395	23/23	PASS	ENST00000398540	Transcript	.	.	ENSG00000114541	24886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRM4B_HUMAN	FRMD4B	HGNC	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN	.	UPI00001C1DF1	SNV	FRMD4B,synonymous_variant,p.%3D,ENST00000398540,;FRMD4B,synonymous_variant,p.%3D,ENST00000478263,;FRMD4B,synonymous_variant,p.%3D,ENST00000542259,;	3126	160	132	SUCCESS
ROBO1	6091	.	GRCh37	3	78737868	78737868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	53	0	ENST00000464233.1:c.1100C>A	p.Thr367Asn	p.T367N	ENST00000464233	NM_002941.3	367	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS54611.1	1100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAGTCCGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	.	.	ENSP00000420321	.	9/31	.	.	.	.	.	.	.	.	.	9/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.719)	.	tolerated(0.07)	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,missense_variant,p.Thr367Asn,ENST00000464233,;ROBO1,missense_variant,p.Thr331Asn,ENST00000495273,;ROBO1,missense_variant,p.Thr328Asn,ENST00000436010,;ROBO1,missense_variant,p.Thr331Asn,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;ROBO1,downstream_gene_variant,,ENST00000488735,;	1214	53	43	SUCCESS
KIAA1109	84162	.	GRCh37	4	123268771	123268771	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	37	123	0	ENST00000264501.4:c.12966G>A	p.Gln4322=	p.Q4322=	ENST00000264501		4322	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS43267.1	12966	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGCCAAG	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	76/86	.	.	.	.	.	.	.	.	.	76/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,synonymous_variant,p.%3D,ENST00000306802,;KIAA1109,synonymous_variant,p.%3D,ENST00000438707,;KIAA1109,synonymous_variant,p.%3D,ENST00000264501,;KIAA1109,synonymous_variant,p.%3D,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000442707,;KIAA1109,upstream_gene_variant,,ENST00000491933,;	13339	123	96	SUCCESS
BOD1L1	259282	.	GRCh37	4	13601419	13601419	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	131	0	ENST00000040738.5:c.7105A>T	p.Ser2369Cys	p.S2369C	ENST00000040738	NM_148894.2	2369	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS3411.2	7105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCTCACTT	NONE	.	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,missense_variant,p.Ser2369Cys,ENST00000040738,;	7241	131	122	SUCCESS
DCHS2	54798	.	GRCh37	4	155256019	155256019	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	44	0	ENST00000357232.4:c.1216+1G>C		p.X406_splice	ENST00000357232	NM_017639.3	406		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3785.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACTCAAG	NONE	.	.	.	.	.	ENSP00000349768	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357232	Transcript	.	.	ENSG00000197410	23111	.	.	HIGH	8/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD23_HUMAN	DCHS2	HGNC	B3KT73_HUMAN	.	UPI000035B018	SNV	DCHS2,splice_donor_variant,,ENST00000339452,;DCHS2,splice_donor_variant,,ENST00000357232,;DCHS2,splice_donor_variant,,ENST00000507542,;DCHS2,splice_donor_variant,,ENST00000504580,;	.	44	25	SUCCESS
ENPP6	133121	.	GRCh37	4	185074757	185074757	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	51	123	0	ENST00000296741.2:c.371G>A	p.Trp124Ter	p.W124*	ENST00000296741	NM_153343.3	124	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS3834.1	371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCCACAGA	NONE	.	.	hmmpanther:PTHR10151:SF66,hmmpanther:PTHR10151,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	.	.	ENSP00000296741	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000296741	Transcript	.	.	ENSG00000164303	23409	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENPP6_HUMAN	ENPP6	HGNC	D6R9P1_HUMAN	.	UPI0000073C89	SNV	ENPP6,stop_gained,p.Trp36Ter,ENST00000512353,;ENPP6,stop_gained,p.Trp124Ter,ENST00000296741,;	513	123	106	SUCCESS
OTOP1	133060	.	GRCh37	4	4228502	4228502	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	8	0	ENST00000296358.4:c.90T>A	p.Pro30=	p.P30=	ENST00000296358	NM_177998.1	30	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3372.1	90	MUTECT|MUSE|VARSCANS	.	GAGGGAGGCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522	.	.	ENSP00000296358	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,synonymous_variant,p.%3D,ENST00000296358,;	115	8	14	SUCCESS
SLC10A4	201780	.	GRCh37	4	48490859	48490859	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	56	0	ENST00000273861.4:c.1217A>T	p.Tyr406Phe	p.Y406F	ENST00000273861	NM_152679.3	406	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS3482.1	1217	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTATAAAA	NONE	.	.	hmmpanther:PTHR10361:SF20,hmmpanther:PTHR10361	.	.	ENSP00000273861	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000273861	Transcript	.	.	ENSG00000145248	22980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	deleterious(0.02)	.	NTCP4_HUMAN	SLC10A4	HGNC	.	.	UPI000006E8DB	SNV	SLC10A4,missense_variant,p.Tyr406Phe,ENST00000273861,;ZAR1,upstream_gene_variant,,ENST00000327939,;	1436	57	74	SUCCESS
UGT2B4	7363	.	GRCh37	4	70346460	70346460	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	51	111	0	ENST00000305107.6:c.1479G>C	p.Val493=	p.V493=	ENST00000305107	NM_021139.2	493	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS43234.1	1479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCACATC	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,Pfam_domain:PF00201	.	.	ENSP00000305221	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	SNV	UGT2B4,synonymous_variant,p.%3D,ENST00000305107,;UGT2B4,synonymous_variant,p.%3D,ENST00000381096,;UGT2B4,3_prime_UTR_variant,,ENST00000512583,;AC108078.1,downstream_gene_variant,,ENST00000583573,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,downstream_gene_variant,,ENST00000502655,;	1526	111	100	SUCCESS
PCDHA6	56142	.	GRCh37	5	140209357	140209357	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	42	0	ENST00000529310.1:c.1681A>T	p.Asn561Tyr	p.N561Y	ENST00000529310	NM_018909.2	561	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS47281.1	1681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACAACGCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious_low_confidence(0)	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,missense_variant,p.Asn561Tyr,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	1795	42	54	SUCCESS
PCDHB6	56130	.	GRCh37	5	140531345	140531345	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	34	0	ENST00000231136.1:c.1507T>A	p.Ser503Thr	p.S503T	ENST00000231136	NM_018939.2	503	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS4248.1	1507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTCCATC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,PROSITE_profiles:PS50268	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.233)	.	deleterious(0)	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,missense_variant,p.Ser367Thr,ENST00000543635,;PCDHB6,missense_variant,p.Ser503Thr,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	1507	34	40	SUCCESS
AFAP1L1	134265	.	GRCh37	5	148687115	148687115	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs768606047	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	45	0	ENST00000296721.4:c.686G>C	p.Arg229Pro	p.R229P	ENST00000296721	NM_152406.2	229	cGg/cCg	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS34274.1	686	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGGAAAA	BUFFER|p.R232H|c.695G>A|3	byFrequency	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,PROSITE_profiles:PS50003	.	.	ENSP00000296721	.	7/19	.	.	.	.	.	.	.	.	rs768606047	7/19	PASS	ENST00000296721	Transcript	.	.	ENSG00000157510	26714	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.551)	.	deleterious(0.01)	.	AF1L1_HUMAN	AFAP1L1	HGNC	.	.	UPI00001C1E2F	SNV	AFAP1L1,missense_variant,p.Arg229Pro,ENST00000296721,;AFAP1L1,missense_variant,p.Arg229Pro,ENST00000515000,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;AFAP1L1,downstream_gene_variant,,ENST00000508444,;	784	45	49	SUCCESS
PDE6A	5145	.	GRCh37	5	149314265	149314265	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs750240631	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	61	0	ENST00000255266.5:c.491A>G	p.Asp164Gly	p.D164G	ENST00000255266	NM_000440.2	164	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4299.1	491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGTCACAG	NONE	byFrequency	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Pfam_domain:PF01590,Gene3D:3.30.450.40,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000255266	.	2/22	.	.	.	.	.	.	.	.	rs750240631	2/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.15)	.	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,missense_variant,p.Asp164Gly,ENST00000255266,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;AC008427.2,upstream_gene_variant,,ENST00000503102,;	611	61	64	SUCCESS
ANXA6	309	.	GRCh37	5	150516818	150516818	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1242797859	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	58	1	ENST00000354546.5:c.383A>G	p.His128Arg	p.H128R	ENST00000354546	NM_001155.4	128	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS47315.1	383	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGTGCATC	NONE	.	.	Prints_domain:PR00202,Superfamily_domains:SSF47874,SMART_domains:SM00335,Gene3D:1.10.220.10,Pfam_domain:PF00191,PROSITE_patterns:PS00223,hmmpanther:PTHR10502:SF19,hmmpanther:PTHR10502	.	.	ENSP00000346550	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000354546	Transcript	.	.	ENSG00000197043	544	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(1)	.	ANXA6_HUMAN	ANXA6	HGNC	E5RK63_HUMAN,E5RJR0_HUMAN,E5RJF5_HUMAN,B7Z582_HUMAN	.	UPI000013CB37	SNV	ANXA6,missense_variant,p.His128Arg,ENST00000354546,;ANXA6,missense_variant,p.His96Arg,ENST00000521749,;ANXA6,missense_variant,p.His128Arg,ENST00000356496,;ANXA6,missense_variant,p.His96Arg,ENST00000523714,;ANXA6,missense_variant,p.His96Arg,ENST00000517757,;ANXA6,intron_variant,,ENST00000521512,;ANXA6,intron_variant,,ENST00000517486,;ANXA6,intron_variant,,ENST00000377751,;ANXA6,downstream_gene_variant,,ENST00000523164,;ANXA6,non_coding_transcript_exon_variant,,ENST00000520378,;ANXA6,intron_variant,,ENST00000519644,;ANXA6,intron_variant,,ENST00000517677,;ANXA6,upstream_gene_variant,,ENST00000517707,;	611	59	65	SUCCESS
SLC36A3	285641	.	GRCh37	5	150682785	150682785	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	43	0	ENST00000335230.3:c.128+3A>T		p.X43_splice	ENST00000335230	NM_181774.3	43		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47316.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTACGAT	NONE	.	.	.	.	.	ENSP00000366942	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377713	Transcript	.	.	ENSG00000186334	19659	.	.	LOW	1/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S36A3_HUMAN	SLC36A3	HGNC	.	.	UPI00005764D3	SNV	SLC36A3,splice_region_variant,,ENST00000335230,;SLC36A3,splice_region_variant,,ENST00000377713,;SLC36A3,upstream_gene_variant,,ENST00000423071,;	.	43	40	SUCCESS
SLC36A2	153201	.	GRCh37	5	150701730	150701730	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	44	0	ENST00000335244.4:c.1057A>T	p.Thr353Ser	p.T353S	ENST00000335244	NM_181776.2	353	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4315.1	1057	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGTGCACA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF185,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000334223	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000335244	Transcript	1	.	ENSG00000186335	18762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	tolerated(0.28)	.	S36A2_HUMAN	SLC36A2	HGNC	E5RGH8_HUMAN	.	UPI000020D008	SNV	SLC36A2,missense_variant,p.Thr77Ser,ENST00000450886,;SLC36A2,missense_variant,p.Thr353Ser,ENST00000521967,;SLC36A2,missense_variant,p.Thr353Ser,ENST00000335244,;SLC36A2,downstream_gene_variant,,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;CTC-224D3.1,downstream_gene_variant,,ENST00000604421,;	1187	44	57	SUCCESS
NKX2-5	1482	.	GRCh37	5	172662201	172662201	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	30	0	ENST00000329198.4:c.-115A>T		p.*39*	ENST00000329198	NM_004387.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4387.1	.	MUTECT|MUSE	.	CCAGCTCTGGA	NONE	.	.	.	.	.	ENSP00000327758	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000329198	Transcript	1	.	ENSG00000183072	2488	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NKX25_HUMAN	NKX2-5	HGNC	A1ECB8_HUMAN	.	UPI0000062197	SNV	NKX2-5,5_prime_UTR_variant,,ENST00000521848,;NKX2-5,5_prime_UTR_variant,,ENST00000329198,;NKX2-5,5_prime_UTR_variant,,ENST00000424406,;NKX2-5,5_prime_UTR_variant,,ENST00000517440,;	160	30	43	SUCCESS
HNRNPH1	3187	.	GRCh37	5	179045165	179045165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	47	94	1	ENST00000356731.5:c.696G>T	p.Arg232Ser	p.R232S	ENST00000356731		232	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4446.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCCTCAT	NONE	.	.	hmmpanther:PTHR13976:SF33,hmmpanther:PTHR13976	.	.	ENSP00000349168	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000356731	Transcript	1	.	ENSG00000169045	5041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.06)	.	HNRH1_HUMAN	HNRNPH1	HGNC	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN	.	UPI0000000C2B	SNV	HNRNPH1,missense_variant,p.Arg232Ser,ENST00000329433,;HNRNPH1,missense_variant,p.Arg46Ser,ENST00000523921,;HNRNPH1,missense_variant,p.Arg232Ser,ENST00000442819,;HNRNPH1,missense_variant,p.Arg232Ser,ENST00000356731,;HNRNPH1,missense_variant,p.Arg232Ser,ENST00000393432,;HNRNPH1,missense_variant,p.Arg232Ser,ENST00000510411,;HNRNPH1,missense_variant,p.Arg107Ser,ENST00000521173,;HNRNPH1,intron_variant,,ENST00000503105,;HNRNPH1,downstream_gene_variant,,ENST00000503664,;HNRNPH1,downstream_gene_variant,,ENST00000504348,;HNRNPH1,upstream_gene_variant,,ENST00000523449,;HNRNPH1,downstream_gene_variant,,ENST00000515714,;HNRNPH1,downstream_gene_variant,,ENST00000521116,;HNRNPH1,downstream_gene_variant,,ENST00000510431,;HNRNPH1,downstream_gene_variant,,ENST00000505811,;HNRNPH1,upstream_gene_variant,,ENST00000511300,;HNRNPH1,downstream_gene_variant,,ENST00000523137,;HNRNPH1,downstream_gene_variant,,ENST00000522256,;HNRNPH1,upstream_gene_variant,,ENST00000523136,;HNRNPH1,downstream_gene_variant,,ENST00000519056,;HNRNPH1,downstream_gene_variant,,ENST00000508103,;HNRNPH1,downstream_gene_variant,,ENST00000506721,;HNRNPH1,downstream_gene_variant,,ENST00000513225,;HNRNPH1,downstream_gene_variant,,ENST00000515158,;HNRNPH1,upstream_gene_variant,,ENST00000519033,;HNRNPH1,downstream_gene_variant,,ENST00000521790,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000518548,;HNRNPH1,downstream_gene_variant,,ENST00000519455,;HNRNPH1,downstream_gene_variant,,ENST00000524180,;HNRNPH1,3_prime_UTR_variant,,ENST00000519958,;HNRNPH1,3_prime_UTR_variant,,ENST00000510678,;HNRNPH1,3_prime_UTR_variant,,ENST00000504779,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502632,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514731,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000515481,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000504549,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000520415,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502904,;HNRNPH1,downstream_gene_variant,,ENST00000513230,;HNRNPH1,downstream_gene_variant,,ENST00000522958,;HNRNPH1,downstream_gene_variant,,ENST00000515446,;HNRNPH1,downstream_gene_variant,,ENST00000512273,;HNRNPH1,upstream_gene_variant,,ENST00000524179,;HNRNPH1,downstream_gene_variant,,ENST00000505087,;HNRNPH1,downstream_gene_variant,,ENST00000519707,;HNRNPH1,upstream_gene_variant,,ENST00000521720,;HNRNPH1,downstream_gene_variant,,ENST00000513972,;HNRNPH1,downstream_gene_variant,,ENST00000519943,;	2232	95	76	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33649699	33649699	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	28	0	ENST00000504830.1:c.1294T>C	p.Trp432Arg	p.W432R	ENST00000504830	NM_030955.2	432	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS34140.1	1294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCATGTCA	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000422554	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,missense_variant,p.Trp432Arg,ENST00000504830,;ADAMTS12,missense_variant,p.Trp432Arg,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	1630	28	41	SUCCESS
OXCT1	5019	.	GRCh37	5	41739504	41739504	+	synonymous_variant	Silent	SNP	C	C	G	rs560172270	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	47	115	0	ENST00000196371.5:c.1509G>C	p.Gly503=	p.G503=	ENST00000196371	NM_000436.3	503	ggG/ggC	0	.	T:0	.	T:0.0029	.	G	G	protein_coding	YES	CCDS3937.1	1509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACCCAGT	NONE	byFrequency|by1000G	.	hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF30,TIGRFAM_domain:TIGR02428,Gene3D:3.40.810.20,PIRSF_domain:PIRSF000858,Superfamily_domains:SSF100950	T:0	.	ENSP00000196371	T:0	16/17	.	.	.	.	.	.	.	.	rs560172270,COSM1543954	16/17	PASS	ENST00000196371	Transcript	1	T:0.0004	ENSG00000083720	8527	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	SCOT1_HUMAN	OXCT1	HGNC	B7Z528_HUMAN,A1E286_HUMAN	.	UPI0000000C9A	SNV	OXCT1,synonymous_variant,p.%3D,ENST00000509987,;OXCT1,synonymous_variant,p.%3D,ENST00000196371,;OXCT1,synonymous_variant,p.%3D,ENST00000510634,;OXCT1,synonymous_variant,p.%3D,ENST00000512084,;OXCT1,non_coding_transcript_exon_variant,,ENST00000508557,;OXCT1,non_coding_transcript_exon_variant,,ENST00000503374,;	1670	115	117	SUCCESS
IL31RA	133396	.	GRCh37	5	55178923	55178923	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs541486912	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	50	113	0	ENST00000447346.2:c.506A>T	p.Lys169Ile	p.K169I	ENST00000447346	NM_001242636.1	169	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS3970.2	506	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAAACGAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000415900	.	5/15	.	.	.	.	.	.	.	.	rs541486912	5/15	PASS	ENST00000447346	Transcript	1	.	ENSG00000164509	18969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.906)	.	deleterious(0)	.	IL31R_HUMAN	IL31RA	HGNC	.	.	UPI00001A41DC	SNV	IL31RA,missense_variant,p.Lys169Ile,ENST00000447346,;IL31RA,missense_variant,p.Lys27Ile,ENST00000490985,;IL31RA,missense_variant,p.Lys169Ile,ENST00000359040,;IL31RA,missense_variant,p.Lys150Ile,ENST00000354961,;IL31RA,missense_variant,p.Lys169Ile,ENST00000396836,;IL31RA,missense_variant,p.Lys150Ile,ENST00000396834,;IL31RA,missense_variant,p.Lys27Ile,ENST00000297015,;	571	113	105	SUCCESS
TAF9	6880	.	GRCh37	5	68665374	68665374	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	77	0	ENST00000217893.5:c.-195T>A		p.*65*	ENST00000217893	NM_003187.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4002.1	.	RADIA|MUTECT|MUSE	.	CAGGGAGGAGC	NONE	.	.	.	.	.	ENSP00000370193	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328663	Transcript	.	.	ENSG00000085231	11542	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TAF9_HUMAN	TAF9	HGNC	D6RIY1_HUMAN,D6RIV9_HUMAN,D6RIE8_HUMAN,D6RHW1_HUMAN,D6RGK3_HUMAN	.	UPI000000D8A6	SNV	TAF9,5_prime_UTR_variant,,ENST00000217893,;RAD17,intron_variant,,ENST00000507927,;RAD17,intron_variant,,ENST00000361732,;TAF9,intron_variant,,ENST00000380818,;TAF9,intron_variant,,ENST00000328663,;RAD17,upstream_gene_variant,,ENST00000358030,;RAD17,upstream_gene_variant,,ENST00000354868,;TAF9,upstream_gene_variant,,ENST00000380822,;TAF9,upstream_gene_variant,,ENST00000509462,;TAF9,upstream_gene_variant,,ENST00000503245,;RAD17,upstream_gene_variant,,ENST00000506564,;RAD17,upstream_gene_variant,,ENST00000345306,;RAD17,upstream_gene_variant,,ENST00000305138,;TAF9,upstream_gene_variant,,ENST00000512152,;RAD17,upstream_gene_variant,,ENST00000282891,;RAD17,upstream_gene_variant,,ENST00000354312,;RAD17,upstream_gene_variant,,ENST00000509734,;RAD17,upstream_gene_variant,,ENST00000380774,;TAF9,upstream_gene_variant,,ENST00000504109,;RAD17,upstream_gene_variant,,ENST00000521422,;TAF9,upstream_gene_variant,,ENST00000506736,;RAD17,upstream_gene_variant,,ENST00000512785,;TAF9,upstream_gene_variant,,ENST00000512561,;TAF9,upstream_gene_variant,,ENST00000508954,;RAD17,intron_variant,,ENST00000514066,;RAD17,upstream_gene_variant,,ENST00000504177,;RAD17,upstream_gene_variant,,ENST00000511349,;TAF9,upstream_gene_variant,,ENST00000502819,;	.	77	83	SUCCESS
TAF9	6880	.	GRCh37	5	68665389	68665389	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	39	66	0	ENST00000217893.5:c.-210G>T		p.*70*	ENST00000217893	NM_003187.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4002.1	.	RADIA|MUTECT|MUSE	.	AGGGGCGGGCG	NONE	.	.	.	.	.	ENSP00000370193	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328663	Transcript	.	.	ENSG00000085231	11542	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TAF9_HUMAN	TAF9	HGNC	D6RIY1_HUMAN,D6RIV9_HUMAN,D6RIE8_HUMAN,D6RHW1_HUMAN,D6RGK3_HUMAN	.	UPI000000D8A6	SNV	TAF9,5_prime_UTR_variant,,ENST00000217893,;RAD17,intron_variant,,ENST00000507927,;RAD17,intron_variant,,ENST00000361732,;TAF9,intron_variant,,ENST00000380818,;TAF9,intron_variant,,ENST00000328663,;RAD17,upstream_gene_variant,,ENST00000358030,;RAD17,upstream_gene_variant,,ENST00000354868,;TAF9,upstream_gene_variant,,ENST00000380822,;TAF9,upstream_gene_variant,,ENST00000509462,;TAF9,upstream_gene_variant,,ENST00000503245,;RAD17,upstream_gene_variant,,ENST00000506564,;RAD17,upstream_gene_variant,,ENST00000345306,;RAD17,upstream_gene_variant,,ENST00000305138,;TAF9,upstream_gene_variant,,ENST00000512152,;RAD17,upstream_gene_variant,,ENST00000282891,;RAD17,upstream_gene_variant,,ENST00000354312,;RAD17,upstream_gene_variant,,ENST00000509734,;RAD17,upstream_gene_variant,,ENST00000380774,;TAF9,upstream_gene_variant,,ENST00000504109,;RAD17,upstream_gene_variant,,ENST00000521422,;TAF9,upstream_gene_variant,,ENST00000506736,;RAD17,upstream_gene_variant,,ENST00000512785,;TAF9,upstream_gene_variant,,ENST00000512561,;TAF9,upstream_gene_variant,,ENST00000508954,;RAD17,intron_variant,,ENST00000514066,;RAD17,upstream_gene_variant,,ENST00000504177,;RAD17,upstream_gene_variant,,ENST00000511349,;TAF9,upstream_gene_variant,,ENST00000502819,;	.	66	75	SUCCESS
VCAN	1462	.	GRCh37	5	82816442	82816442	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	43	0	ENST00000265077.3:c.2317A>T	p.Thr773Ser	p.T773S	ENST00000265077	NM_004385.4	773	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4060.1	2317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAACTCCA	NONE	.	.	hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	.	.	ENSP00000265077	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000265077	Transcript	1	.	ENSG00000038427	2464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.2)	.	CSPG2_HUMAN	VCAN	HGNC	.	.	UPI000013178B	SNV	VCAN,missense_variant,p.Thr773Ser,ENST00000342785,;VCAN,missense_variant,p.Thr773Ser,ENST00000265077,;VCAN,missense_variant,p.Thr725Ser,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000343200,;VCAN,intron_variant,,ENST00000515397,;	2882	43	50	SUCCESS
GPR98	0	.	GRCh37	5	90077196	90077196	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	50	106	0	ENST00000405460.2:c.13083-51T>A		p.*4361*	ENST00000405460	NM_032119.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47246.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATTTTTTG	NONE	.	.	.	.	.	ENSP00000384582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODIFIER	64/89	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000425867,;GPR98,intron_variant,,ENST00000405460,;	.	106	109	SUCCESS
THEMIS	387357	.	GRCh37	6	128134158	128134158	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768563536	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	28	73	0	ENST00000368248.2:c.1628T>C	p.Met543Thr	p.M543T	ENST00000368248	NM_001010923.2	543	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS55056.1	1628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCATCATG	NONE	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	rs768563536	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.217)	.	deleterious(0)	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,missense_variant,p.Met464Thr,ENST00000368250,;THEMIS,missense_variant,p.Met543Thr,ENST00000368248,;THEMIS,missense_variant,p.Met543Thr,ENST00000543064,;THEMIS,missense_variant,p.Met508Thr,ENST00000537166,;THEMIS,downstream_gene_variant,,ENST00000434358,;	1777	73	31	SUCCESS
VTA1	51534	.	GRCh37	6	142468439	142468439	+	synonymous_variant	Silent	SNP	A	A	G	rs1464484753	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	17	33	0	ENST00000367630.4:c.15A>G	p.Ala5=	p.A5=	ENST00000367630	NM_016485.3	5	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS5197.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCACCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12741	.	.	ENSP00000356602	.	1/8	.	.	.	.	.	.	.	.	COSM3669550	1/8	PASS	ENST00000367630	Transcript	.	.	ENSG00000009844	20954	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	VTA1_HUMAN	VTA1	HGNC	.	.	UPI0000034E19	SNV	VTA1,synonymous_variant,p.%3D,ENST00000367630,;VTA1,5_prime_UTR_variant,,ENST00000452973,;VTA1,5_prime_UTR_variant,,ENST00000367621,;	73	33	21	SUCCESS
LATS1	9113	.	GRCh37	6	150005471	150005471	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs777511030	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	38	85	0	ENST00000253339.5:c.754A>T	p.Arg252Ter	p.R252*	ENST00000253339		252	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS34551.1	754	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTTGGAG	CODON|p.R252R|c.756A>G|3,CODON|p.R252R|c.756A>G|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138	.	.	ENSP00000437550	.	4/8	.	.	.	.	.	.	.	.	rs777511030,COSM1441139,COSM1441138	4/8	PASS	ENST00000543571	Transcript	.	.	ENSG00000131023	6514	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	LATS1_HUMAN	LATS1	HGNC	.	.	UPI0000073DC2	SNV	LATS1,stop_gained,p.Arg252Ter,ENST00000253339,;LATS1,stop_gained,p.Arg252Ter,ENST00000392273,;LATS1,stop_gained,p.Arg198Ter,ENST00000458696,;LATS1,stop_gained,p.Arg252Ter,ENST00000543571,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;	1302	85	44	SUCCESS
NOX3	50508	.	GRCh37	6	155774563	155774563	+	synonymous_variant	Silent	SNP	G	G	A	rs747106586	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	51	158	0	ENST00000159060.2:c.315C>T	p.Val105=	p.V105=	ENST00000159060	NM_015718.2	105	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS5250.1	315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCGACCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Pfam_domain:PF01794,Prints_domain:PR00466	.	.	ENSP00000159060	.	4/14	.	.	.	.	.	.	.	.	rs747106586	4/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,synonymous_variant,p.%3D,ENST00000159060,;	418	158	55	SUCCESS
KDM1B	221656	.	GRCh37	6	18188207	18188207	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	25	0	ENST00000297792.5:c.573+2166A>T		p.*191*	ENST00000297792				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34343.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCACTCCA	NONE	.	.	.	.	.	ENSP00000297792	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000297792	Transcript	.	.	ENSG00000165097	21577	.	.	MODIFIER	8/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM1B_HUMAN	KDM1B	HGNC	Q08EI0_HUMAN	.	UPI000023739E	SNV	KDM1B,missense_variant,p.His253Leu,ENST00000388870,;KDM1B,missense_variant,p.His70Leu,ENST00000449850,;KDM1B,intron_variant,,ENST00000546309,;KDM1B,intron_variant,,ENST00000397244,;KDM1B,intron_variant,,ENST00000297792,;	.	25	49	SUCCESS
ZNF391	346157	.	GRCh37	6	27368962	27368962	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs772528684	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	78	0	ENST00000244576.4:c.813C>G	p.His271Gln	p.H271Q	ENST00000244576	NM_001076781.1	271	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS43429.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACACACTGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Prints_domain:PR00048	.	.	ENSP00000244576	.	3/3	.	.	.	.	.	.	.	.	rs772528684	3/3	PASS	ENST00000244576	Transcript	.	.	ENSG00000124613	18779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZN391_HUMAN	ZNF391	HGNC	C9JUF8_HUMAN	.	UPI00001D81D5	SNV	ZNF391,missense_variant,p.His271Gln,ENST00000244576,;ZNF391,downstream_gene_variant,,ENST00000461521,;RP1-153G14.4,downstream_gene_variant,,ENST00000607727,;ZNF391,downstream_gene_variant,,ENST00000477999,;	1358	78	114	SUCCESS
TRIM31	11074	.	GRCh37	6	30080321	30080321	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	34	81	0	ENST00000376734.3:c.262T>C	p.Ser88Pro	p.S88P	ENST00000376734	NM_007028.3	88	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS34374.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGACTGCA	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF87,Superfamily_domains:SSF57845	.	.	ENSP00000365924	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000376734	Transcript	.	.	ENSG00000204616	16289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TRI31_HUMAN	TRIM31	HGNC	Q2L6J1_HUMAN	.	UPI00001B0109	SNV	TRIM31,missense_variant,p.Ser88Pro,ENST00000376734,;TRIM31,missense_variant,p.Ser88Pro,ENST00000540829,;TRIM31-AS1,intron_variant,,ENST00000440874,;TRIM31,upstream_gene_variant,,ENST00000485864,;TRIM31,upstream_gene_variant,,ENST00000480808,;TRIM31,upstream_gene_variant,,ENST00000493404,;TRIM31,upstream_gene_variant,,ENST00000468264,;	388	81	120	SUCCESS
NOTCH4	4855	.	GRCh37	6	32170085	32170085	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	34	0	ENST00000375023.3:c.3523G>T	p.Ala1175Ser	p.A1175S	ENST00000375023	NM_004557.3	1175	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS34420.1	3523	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCTCCGG	NONE	.	.	PROSITE_profiles:PS50258,hmmpanther:PTHR24033,Pfam_domain:PF00066,PIRSF_domain:PIRSF002279,SMART_domains:SM00004	.	.	ENSP00000364163	.	21/30	.	.	.	.	.	.	.	.	COSM1329774	21/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.458)	.	tolerated(0.25)	1	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,missense_variant,p.Ala1175Ser,ENST00000375023,;NOTCH4,upstream_gene_variant,,ENST00000443903,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;	3662	34	55	SUCCESS
DNAH8	1769	.	GRCh37	6	38802359	38802359	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767504389	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	172	63	162	0	ENST00000359357.3:c.3656G>A	p.Gly1219Glu	p.G1219E	ENST00000359357		1219	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	.	3656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGACCTA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	30/91	.	.	.	.	.	.	.	.	rs767504389	30/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Gly1219Glu,ENST00000359357,;DNAH8,missense_variant,p.Gly1424Glu,ENST00000327475,;DNAH8,missense_variant,p.Gly1219Glu,ENST00000441566,;DNAH8,missense_variant,p.Gly1436Glu,ENST00000449981,;	3910	162	236	SUCCESS
ABCC10	89845	.	GRCh37	6	43402429	43402429	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747618346	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	50	0	ENST00000372530.4:c.1451G>T	p.Arg484Leu	p.R484L	ENST00000372530	NM_001198934.1	484	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS56430.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGAGTAG	NONE	byFrequency	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF197,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000361608	.	4/22	.	.	.	.	.	.	.	.	rs747618346	4/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.663)	.	deleterious(0.01)	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,missense_variant,p.Arg484Leu,ENST00000372530,;ABCC10,missense_variant,p.Arg40Leu,ENST00000372515,;ABCC10,missense_variant,p.Arg441Leu,ENST00000244533,;ABCC10,non_coding_transcript_exon_variant,,ENST00000443426,;ABCC10,downstream_gene_variant,,ENST00000502549,;ABCC10,upstream_gene_variant,,ENST00000469856,;ABCC10,upstream_gene_variant,,ENST00000463024,;	1666	50	98	SUCCESS
TMEM63B	55362	.	GRCh37	6	44116103	44116103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	24	0	ENST00000259746.9:c.1102A>G	p.Asn368Asp	p.N368D	ENST00000259746		368	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS34461.1	1102	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAATGAG	NONE	.	.	Gene3D:3.30.70.330,Pfam_domain:PF02714,hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018	.	.	ENSP00000259746	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000259746	Transcript	.	.	ENSG00000137216	17735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.083)	.	tolerated(1)	.	TM63B_HUMAN	TMEM63B	HGNC	E9PNG1_HUMAN	.	UPI000020DDEE	SNV	TMEM63B,missense_variant,p.Asn297Asp,ENST00000371893,;TMEM63B,missense_variant,p.Asn368Asp,ENST00000323267,;TMEM63B,missense_variant,p.Asn368Asp,ENST00000259746,;TMEM63B,missense_variant,p.Asn184Asp,ENST00000533121,;TMEM63B,3_prime_UTR_variant,,ENST00000497371,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000534326,;TMEM63B,downstream_gene_variant,,ENST00000525873,;	1285	24	60	SUCCESS
RUNX2	860	.	GRCh37	6	45296466	45296466	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	84	98	1	ENST00000371438.1:c.3G>T	p.Met1?	p.M1?	ENST00000371438	NM_001024630.3	1	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS43467.2	3	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTATGGCATC	NONE	.	.	PIRSF_domain:PIRSF009374	.	.	ENSP00000360493	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000371438	Transcript	.	.	ENSG00000124813	10472	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.38)	.	deleterious_low_confidence(0)	.	RUNX2_HUMAN	RUNX2	HGNC	U3RG86_HUMAN	.	UPI000013532F	SNV	RUNX2,start_lost,p.Met1?,ENST00000371436,;RUNX2,start_lost,p.Met1?,ENST00000465038,;RUNX2,start_lost,p.Met1?,ENST00000576263,;RUNX2,start_lost,p.Met1?,ENST00000371438,;RUNX2,missense_variant,p.Met69Ile,ENST00000352853,;RUNX2,missense_variant,p.Met69Ile,ENST00000541979,;SUPT3H,intron_variant,,ENST00000371459,;SUPT3H,intron_variant,,ENST00000306867,;SUPT3H,intron_variant,,ENST00000371460,;RUNX2,non_coding_transcript_exon_variant,,ENST00000483243,;SUPT3H,intron_variant,,ENST00000459689,;RUNX2,start_lost,p.Met1?,ENST00000483377,;SUPT3H,intron_variant,,ENST00000475057,;	361	99	142	SUCCESS
DST	667	.	GRCh37	6	56468122	56468122	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	37	92	0	ENST00000244364.6:c.3673-3103A>T		p.*1225*	ENST00000244364	NM_015548.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTGGGAA	NONE	.	.	.	.	.	ENSP00000244364	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	MODIFIER	25/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,stop_gained,p.Arg3143Ter,ENST00000446842,;DST,stop_gained,p.Arg3647Ter,ENST00000370754,;DST,stop_gained,p.Arg3469Ter,ENST00000361203,;DST,stop_gained,p.Arg3469Ter,ENST00000370769,;DST,stop_gained,p.Arg3469Ter,ENST00000312431,;DST,intron_variant,,ENST00000370788,;DST,intron_variant,,ENST00000244364,;DST,intron_variant,,ENST00000421834,;DST,downstream_gene_variant,,ENST00000439203,;DST,upstream_gene_variant,,ENST00000518398,;	.	92	127	SUCCESS
RIMS1	22999	.	GRCh37	6	73102430	73102430	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	60	115	0	ENST00000521978.1:c.4536T>A	p.Ala1512=	p.A1512=	ENST00000521978	NM_014989.5	1512	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47449.1	4536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGACAG	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,synonymous_variant,p.%3D,ENST00000414192,;RIMS1,synonymous_variant,p.%3D,ENST00000491071,;RIMS1,synonymous_variant,p.%3D,ENST00000517827,;RIMS1,synonymous_variant,p.%3D,ENST00000453976,;RIMS1,synonymous_variant,p.%3D,ENST00000522291,;RIMS1,synonymous_variant,p.%3D,ENST00000538414,;RIMS1,synonymous_variant,p.%3D,ENST00000522211,;RIMS1,synonymous_variant,p.%3D,ENST00000520567,;RIMS1,synonymous_variant,p.%3D,ENST00000518273,;RIMS1,synonymous_variant,p.%3D,ENST00000517960,;RIMS1,synonymous_variant,p.%3D,ENST00000517433,;RIMS1,synonymous_variant,p.%3D,ENST00000523963,;RIMS1,synonymous_variant,p.%3D,ENST00000425662,;RIMS1,synonymous_variant,p.%3D,ENST00000264839,;RIMS1,synonymous_variant,p.%3D,ENST00000401910,;RIMS1,synonymous_variant,p.%3D,ENST00000348717,;RIMS1,synonymous_variant,p.%3D,ENST00000521978,;RIMS1,synonymous_variant,p.%3D,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000431478,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	4536	115	67	SUCCESS
TBX18	9096	.	GRCh37	6	85446945	85446945	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	60	93	0	ENST00000369663.5:c.1282A>T	p.Asn428Tyr	p.N428Y	ENST00000369663	NM_001080508.2	428	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS34495.1	1282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGTTGAGGG	BUFFER|p.R429L|c.1286G>T|3	.	.	hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.07)	.	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	SNV	TBX18,missense_variant,p.Asn428Tyr,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;TBX18,downstream_gene_variant,,ENST00000606521,;	1620	93	66	SUCCESS
CFTR	1080	.	GRCh37	7	117307000	117307000	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	78	0	ENST00000003084.6:c.4281C>T	p.Ile1427=	p.I1427=	ENST00000003084	NM_000492.3	1427	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS5773.1	4281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCCAGAA	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF19,hmmpanther:PTHR24223,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR01271,Superfamily_domains:SSF52540	.	.	ENSP00000003084	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,synonymous_variant,p.%3D,ENST00000426809,;CFTR,synonymous_variant,p.%3D,ENST00000454343,;CFTR,synonymous_variant,p.%3D,ENST00000003084,;CFTR,intron_variant,,ENST00000600166,;	4413	78	96	SUCCESS
CPA5	93979	.	GRCh37	7	130002351	130002351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	21	30	0	ENST00000393213.3:c.607C>A	p.His203Asn	p.H203N	ENST00000393213		203	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS5819.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCATGCC	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF16,PROSITE_patterns:PS00132,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000420237	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000485477	Transcript	.	.	ENSG00000158525	15722	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.395)	.	deleterious(0.01)	.	CBPA5_HUMAN	CPA5	HGNC	A4D1M2_HUMAN,C9JZE9_HUMAN,C9JRV5_HUMAN	.	UPI000000D837	SNV	CPA5,missense_variant,p.His203Asn,ENST00000466363,;CPA5,missense_variant,p.His203Asn,ENST00000461828,;CPA5,missense_variant,p.His203Asn,ENST00000474905,;CPA5,missense_variant,p.His203Asn,ENST00000393213,;CPA5,missense_variant,p.His203Asn,ENST00000355388,;CPA5,missense_variant,p.His203Asn,ENST00000485477,;CPA5,missense_variant,p.His203Asn,ENST00000431780,;CPA5,downstream_gene_variant,,ENST00000463587,;CPA5,upstream_gene_variant,,ENST00000479492,;CPA5,non_coding_transcript_exon_variant,,ENST00000495736,;	1736	30	34	SUCCESS
CHRM2	1129	.	GRCh37	7	136700608	136700608	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	72	0	ENST00000320658.5:c.1000del	p.Ser334ValfsTer13	p.S334Vfs*13	ENST00000320658	NM_001006632.1	332	ccA/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS5843.1	996	INDELOCATOR*|VARSCANI*|PINDEL	.	GACCCCAAAAAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Prints_domain:PR00539	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	COSM1643254	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	4	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	deletion	CHRM2,frameshift_variant,p.Ser334ValfsTer13,ENST00000320658,;CHRM2,frameshift_variant,p.Ser334ValfsTer13,ENST00000401861,;CHRM2,frameshift_variant,p.Ser334ValfsTer13,ENST00000397608,;CHRM2,frameshift_variant,p.Ser334ValfsTer13,ENST00000402486,;CHRM2,frameshift_variant,p.Ser334ValfsTer13,ENST00000453373,;CHRM2,frameshift_variant,p.Ser334ValfsTer13,ENST00000445907,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	1524	72	107	SUCCESS
OR9A4	130075	.	GRCh37	7	141618728	141618728	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1391934725	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	41	135	1	ENST00000548136.1:c.53G>T	p.Gly18Val	p.G18V	ENST00000548136	NM_001001656.1	18	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS43661.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGCTCTG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242:SF216,hmmpanther:PTHR24242	.	.	ENSP00000448789	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000548136	Transcript	.	.	ENSG00000258083	15095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.17)	.	OR9A4_HUMAN	OR9A4	HGNC	.	.	UPI0000041D24	SNV	OR9A4,missense_variant,p.Gly18Val,ENST00000548136,;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	112	136	116	SUCCESS
AHR	196	.	GRCh37	7	17375399	17375399	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	69	0	ENST00000242057.4:c.1149G>T	p.Gln383His	p.Q383H	ENST00000242057	NM_001621.4	383	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS5366.1	1149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAGAGACC	CODON|p.Q383H|c.1149G>C|3	.	.	Superfamily_domains:SSF55785,SMART_domains:SM00086,Gene3D:3.30.450.20,hmmpanther:PTHR10649:SF11,hmmpanther:PTHR10649	.	.	ENSP00000242057	.	9/11	.	.	.	.	.	.	.	.	COSM600382	9/11	PASS	ENST00000242057	Transcript	.	.	ENSG00000106546	348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.189)	.	tolerated(0.1)	1	AHR_HUMAN	AHR	HGNC	.	.	UPI0000125727	SNV	AHR,missense_variant,p.Gln383His,ENST00000242057,;AHR,non_coding_transcript_exon_variant,,ENST00000492120,;AHR,non_coding_transcript_exon_variant,,ENST00000481944,;AHR,downstream_gene_variant,,ENST00000475440,;AHR,missense_variant,p.Gln383His,ENST00000463496,;	1792	69	71	SUCCESS
RAPGEF5	9771	.	GRCh37	7	22259519	22259519	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	74	150	0	ENST00000344041.6:c.503A>T	p.Gln168Leu	p.Q168L	ENST00000344041	NM_012294.3	168	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS55093.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCTGCAAA	NONE	.	.	hmmpanther:PTHR23113:SF26,hmmpanther:PTHR23113	.	.	ENSP00000343656	.	9/26	.	.	.	.	.	.	.	.	.	9/26	PASS	ENST00000344041	Transcript	.	.	ENSG00000136237	16862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0.01)	.	.	RAPGEF5	HGNC	C9JBS6_HUMAN,A8MQ07_HUMAN	.	UPI0000EA87E4	SNV	RAPGEF5,missense_variant,p.Gln49Leu,ENST00000420196,;RAPGEF5,missense_variant,p.Gln168Leu,ENST00000344041,;RAPGEF5,missense_variant,p.Gln321Leu,ENST00000405243,;RAPGEF5,non_coding_transcript_exon_variant,,ENST00000475788,;	816	150	143	SUCCESS
CARD11	84433	.	GRCh37	7	2987241	2987241	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	55	106	0	ENST00000396946.4:c.188C>T	p.Ala63Val	p.A63V	ENST00000396946	NM_032415.4	63	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5336.2	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGGGCATTA	NONE	.	.	PROSITE_profiles:PS50209,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10,Pfam_domain:PF00619,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000380150	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	deleterious(0.01)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Ala63Val,ENST00000396946,;CARD11,missense_variant,p.Ala63Val,ENST00000356408,;AC004906.3,downstream_gene_variant,,ENST00000423194,;	592	106	112	SUCCESS
FKBP9L	0	.	GRCh37	7	55750419	55750419	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	rs774981392	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	38	64	0	ENST00000455909.1:n.799G>T		p.*267*	ENST00000455909				0	.	.	.	.	.	A	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGTCCTGGT	NONE	.	3251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774981392	.	PASS	ENST00000517048	Transcript	.	.	ENSG00000252857	47352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-389P	HGNC	.	.	.	SNV	RNU6-389P,upstream_gene_variant,,ENST00000517048,;FKBP9L,non_coding_transcript_exon_variant,,ENST00000455909,;FKBP9L,non_coding_transcript_exon_variant,,ENST00000441699,;FKBP9L,non_coding_transcript_exon_variant,,ENST00000324256,;RP11-310H4.6,upstream_gene_variant,,ENST00000432235,;	.	65	62	SUCCESS
VPS37D	155382	.	GRCh37	7	73085576	73085576	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782340944	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	30	0	ENST00000324941.4:c.626C>T	p.Ala209Val	p.A209V	ENST00000324941	NM_001077621.1	209	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43596.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCAGTGC	NONE	.	.	hmmpanther:PTHR13678,hmmpanther:PTHR13678:SF8	.	.	ENSP00000320416	.	4/4	.	.	.	.	.	.	.	.	rs782340944	4/4	PASS	ENST00000324941	Transcript	.	.	ENSG00000176428	18287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	tolerated(0.12)	.	VP37D_HUMAN	VPS37D	HGNC	.	.	UPI000020E8D4	SNV	VPS37D,missense_variant,p.Ala124Val,ENST00000451519,;VPS37D,missense_variant,p.Ala209Val,ENST00000324941,;	760	30	34	SUCCESS
CLIP2	7461	.	GRCh37	7	73752825	73752825	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782207729	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	63	0	ENST00000223398.6:c.169G>A	p.Ala57Thr	p.A57T	ENST00000223398	NM_003388.4	57	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS5569.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCGCAGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000223398	.	3/17	.	.	.	.	.	.	.	.	rs782207729	3/17	PASS	ENST00000223398	Transcript	.	.	ENSG00000106665	2586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.32)	.	CLIP2_HUMAN	CLIP2	HGNC	Q7Z5B7_HUMAN	.	UPI000007061E	SNV	CLIP2,missense_variant,p.Ala57Thr,ENST00000395060,;CLIP2,missense_variant,p.Ala57Thr,ENST00000361545,;CLIP2,missense_variant,p.Ala57Thr,ENST00000223398,;	496	63	69	SUCCESS
GSAP	54103	.	GRCh37	7	76982269	76982269	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	103	0	ENST00000257626.7:c.1483T>G	p.Trp495Gly	p.W495G	ENST00000257626	NM_017439.3	495	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS34672.2	1483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAAGTGA	NONE	.	.	hmmpanther:PTHR13630:SF1,hmmpanther:PTHR13630	.	.	ENSP00000257626	.	18/31	.	.	.	.	.	.	.	.	.	18/31	PASS	ENST00000257626	Transcript	.	.	ENSG00000186088	28042	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.02)	.	GSAP_HUMAN	GSAP	HGNC	B7ZL33_HUMAN	.	UPI000015FEE3	SNV	GSAP,missense_variant,p.Trp495Gly,ENST00000257626,;GSAP,non_coding_transcript_exon_variant,,ENST00000434084,;GSAP,non_coding_transcript_exon_variant,,ENST00000449779,;GSAP,non_coding_transcript_exon_variant,,ENST00000334003,;	1562	103	88	SUCCESS
MTERF	0	.	GRCh37	7	91503797	91503797	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	87	0	ENST00000351870.3:c.311A>T	p.Glu104Val	p.E104V	ENST00000351870	NM_006980.3	104	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS5621.1	311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTCATTG	NONE	.	.	Pfam_domain:PF02536,hmmpanther:PTHR15437:SF2,hmmpanther:PTHR15437	.	.	ENSP00000248643	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000351870	Transcript	.	.	ENSG00000127989	21463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.32)	.	MTERF_HUMAN	MTERF	HGNC	C9JU79_HUMAN,C9JNM8_HUMAN,C9JE25_HUMAN,B4DPR9_HUMAN	.	UPI000004A0C8	SNV	MTERF,missense_variant,p.Glu84Val,ENST00000419292,;MTERF,missense_variant,p.Glu84Val,ENST00000456229,;MTERF,missense_variant,p.Glu104Val,ENST00000351870,;MTERF,missense_variant,p.Glu84Val,ENST00000406735,;MTERF,missense_variant,p.Glu104Val,ENST00000442961,;MTERF,downstream_gene_variant,,ENST00000425936,;MTERF,intron_variant,,ENST00000454222,;MTERF,downstream_gene_variant,,ENST00000481516,;	405	87	84	SUCCESS
OXR1	55074	.	GRCh37	8	107670089	107670089	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	30	0	ENST00000442977.2:c.224-21349G>T		p.*75*	ENST00000442977	NM_001198532.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56548.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTGTGAGG	NONE	.	.	.	.	.	ENSP00000405424	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,5_prime_UTR_variant,,ENST00000312046,;OXR1,intron_variant,,ENST00000497705,;OXR1,intron_variant,,ENST00000442977,;OXR1,intron_variant,,ENST00000517686,;OXR1,intron_variant,,ENST00000445937,;OXR1,intron_variant,,ENST00000531443,;OXR1,intron_variant,,ENST00000452423,;OXR1,intron_variant,,ENST00000517566,;RP11-649G15.2,upstream_gene_variant,,ENST00000518591,;OXR1,5_prime_UTR_variant,,ENST00000435082,;OXR1,upstream_gene_variant,,ENST00000438229,;	.	30	64	SUCCESS
ABRA	137735	.	GRCh37	8	107781754	107781754	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771884458	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	4	50	0	ENST00000311955.3:c.665C>A	p.Ser222Tyr	p.S222Y	ENST00000311955	NM_139166.4	222	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6305.1	665	MUTECT|MUSE	.	ACTGGGAGGGC	NONE	.	.	hmmpanther:PTHR22739:SF7,hmmpanther:PTHR22739	.	.	ENSP00000311436	.	1/2	.	.	.	.	.	.	.	.	rs771884458	1/2	PASS	ENST00000311955	Transcript	.	.	ENSG00000174429	30655	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.665)	.	deleterious(0)	.	ABRA_HUMAN	ABRA	HGNC	.	.	UPI000006F0DE	SNV	ABRA,missense_variant,p.Ser222Tyr,ENST00000311955,;	720	50	86	SUCCESS
CSMD3	114788	.	GRCh37	8	113529405	113529405	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	14	66	0	ENST00000297405.5:c.4614T>A	p.Thr1538=	p.T1538=	ENST00000297405	NM_198123.1	1538	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6315.1	4614	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCGAGTCCC	NONE	.	.	PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	28/71	.	.	.	.	.	.	.	.	.	28/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	4859	66	115	SUCCESS
KCNQ3	3786	.	GRCh37	8	133192469	133192469	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	31	0	ENST00000388996.4:c.712C>A	p.Leu238Met	p.L238M	ENST00000388996	NM_004519.3	238	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS34943.1	712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGCATGC	NONE	.	.	hmmpanther:PTHR11537:SF5,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000373648	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000388996	Transcript	1	.	ENSG00000184156	6297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNQ3_HUMAN	KCNQ3	HGNC	.	.	UPI00001279F0	SNV	KCNQ3,missense_variant,p.Leu118Met,ENST00000521134,;KCNQ3,missense_variant,p.Leu238Met,ENST00000388996,;KCNQ3,missense_variant,p.Leu238Met,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	1133	31	52	SUCCESS
DENND3	22898	.	GRCh37	8	142190927	142190927	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201075864	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	21	0	ENST00000262585.2:c.2678C>T	p.Ala893Val	p.A893V	ENST00000262585	NM_014957.2	893	gCg/gTg	0	.	T:0	.	T:0	.	T	A/V	protein_coding	YES	CCDS34947.1	2678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGCGGTGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	T:0	.	ENSP00000262585	T:0	17/23	.	.	.	.	.	.	.	.	rs201075864,COSM205406	17/23	PASS	ENST00000262585	Transcript	.	T:0.0004	ENSG00000105339	29134	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.406)	T:0.002	tolerated(0.06)	0,1	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,missense_variant,p.Ala973Val,ENST00000519811,;DENND3,missense_variant,p.Ala841Val,ENST00000424248,;DENND3,missense_variant,p.Ala53Val,ENST00000517985,;DENND3,missense_variant,p.Ala893Val,ENST00000262585,;DENND3,missense_variant,p.Ala898Val,ENST00000518668,;DENND3,non_coding_transcript_exon_variant,,ENST00000518806,;DENND3,downstream_gene_variant,,ENST00000523066,;DENND3,downstream_gene_variant,,ENST00000520482,;DENND3,upstream_gene_variant,,ENST00000517813,;	2956	21	60	SUCCESS
TOP1MT	116447	.	GRCh37	8	144408432	144408432	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1191548433	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	8	63	0	ENST00000329245.4:c.443A>G	p.Lys148Arg	p.K148R	ENST00000329245	NM_052963.2	148	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS6400.1	443	MUTECT|MUSE	.	CGGCCTTGTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10290,Gene3D:1oisA01,Pfam_domain:PF02919,Superfamily_domains:SSF56741	.	.	ENSP00000328835	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000329245	Transcript	.	.	ENSG00000184428	29787	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.072)	.	tolerated(0.16)	.	TOP1M_HUMAN	TOP1MT	HGNC	E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN	.	UPI000013716D	SNV	TOP1MT,missense_variant,p.Lys50Arg,ENST00000522041,;TOP1MT,missense_variant,p.Lys50Arg,ENST00000523676,;TOP1MT,missense_variant,p.Lys50Arg,ENST00000519148,;TOP1MT,missense_variant,p.Lys50Arg,ENST00000519591,;TOP1MT,missense_variant,p.Lys50Arg,ENST00000521193,;TOP1MT,missense_variant,p.Lys148Arg,ENST00000329245,;TOP1MT,missense_variant,p.Lys50Arg,ENST00000519139,;TOP1MT,missense_variant,p.Lys117Arg,ENST00000518007,;TOP1MT,downstream_gene_variant,,ENST00000522043,;TOP1MT,downstream_gene_variant,,ENST00000520950,;TOP1MT,downstream_gene_variant,,ENST00000518760,;TOP1MT,missense_variant,p.Lys148Arg,ENST00000518951,;TOP1MT,3_prime_UTR_variant,,ENST00000523417,;TOP1MT,3_prime_UTR_variant,,ENST00000522121,;	478	63	152	SUCCESS
PTK2B	2185	.	GRCh37	8	27315905	27315905	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	13	37	0	ENST00000346049.5:c.2909A>T	p.Glu970Val	p.E970V	ENST00000346049	NM_173176.2	970	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS6057.1	2909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGAGGAGT	NONE	.	.	Superfamily_domains:SSF68993,Pfam_domain:PF03623,Gene3D:1.20.120.330	.	.	ENSP00000380638	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000397501	Transcript	.	.	ENSG00000120899	9612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	tolerated(0.07)	.	FAK2_HUMAN	PTK2B	HGNC	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN	.	UPI000000D9EC	SNV	PTK2B,missense_variant,p.Glu928Val,ENST00000338238,;PTK2B,missense_variant,p.Glu928Val,ENST00000517339,;PTK2B,missense_variant,p.Glu928Val,ENST00000420218,;PTK2B,missense_variant,p.Glu970Val,ENST00000544172,;PTK2B,missense_variant,p.Glu970Val,ENST00000397501,;PTK2B,missense_variant,p.Glu970Val,ENST00000346049,;CHRNA2,downstream_gene_variant,,ENST00000407991,;CHRNA2,downstream_gene_variant,,ENST00000240132,;CHRNA2,downstream_gene_variant,,ENST00000520933,;PTK2B,non_coding_transcript_exon_variant,,ENST00000522245,;PTK2B,downstream_gene_variant,,ENST00000482543,;CHRNA2,downstream_gene_variant,,ENST00000523529,;CHRNA2,downstream_gene_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000523695,;	3717	37	14	SUCCESS
SULF1	23213	.	GRCh37	8	70541750	70541750	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	48	106	0	ENST00000260128.4:c.2120A>T	p.Gln707Leu	p.Q707L	ENST00000260128	NM_015170.2	707	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6204.1	2120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCAGGAAG	NONE	.	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,PIRSF_domain:PIRSF036665	.	.	ENSP00000260128	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000260128	Transcript	.	.	ENSG00000137573	20391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.03)	.	SULF1_HUMAN	SULF1	HGNC	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN	.	UPI000003FD82	SNV	SULF1,missense_variant,p.Gln707Leu,ENST00000260128,;SULF1,missense_variant,p.Gln707Leu,ENST00000402687,;SULF1,missense_variant,p.Gln707Leu,ENST00000419716,;SULF1,missense_variant,p.Gln707Leu,ENST00000458141,;SULF1,non_coding_transcript_exon_variant,,ENST00000524731,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,missense_variant,p.Gln48Leu,ENST00000531512,;	2837	106	202	SUCCESS
TERF1	7013	.	GRCh37	8	73939235	73939235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	21	0	ENST00000276603.5:c.835A>T	p.Ser279Cys	p.S279C	ENST00000276603	NM_017489.2	279	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS6211.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTAGTGGT	NONE	.	.	hmmpanther:PTHR21717,hmmpanther:PTHR21717:SF14,PIRSF_domain:PIRSF038016	.	.	ENSP00000276603	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000276603	Transcript	.	.	ENSG00000147601	11728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.325)	.	tolerated(0.07)	.	TERF1_HUMAN	TERF1	HGNC	.	.	UPI000013DAD5	SNV	TERF1,missense_variant,p.Ser279Cys,ENST00000276602,;TERF1,missense_variant,p.Ser279Cys,ENST00000276603,;TERF1,missense_variant,p.Ser175Cys,ENST00000517390,;TERF1,downstream_gene_variant,,ENST00000518874,;TERF1,non_coding_transcript_exon_variant,,ENST00000522018,;TERF1,upstream_gene_variant,,ENST00000520783,;TERF1,upstream_gene_variant,,ENST00000518961,;	858	21	39	SUCCESS
ZC2HC1A	51101	.	GRCh37	8	79590890	79590890	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	94	0	ENST00000263849.4:c.186A>G	p.Pro62=	p.P62=	ENST00000263849	NM_016010.2	62	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS6223.1	186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAACAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13555:SF25,hmmpanther:PTHR13555	.	.	ENSP00000263849	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000263849	Transcript	.	.	ENSG00000104427	24277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC21A_HUMAN	ZC2HC1A	HGNC	.	.	UPI000013D475	SNV	ZC2HC1A,synonymous_variant,p.%3D,ENST00000263849,;ZC2HC1A,non_coding_transcript_exon_variant,,ENST00000521176,;IL7,intron_variant,,ENST00000523959,;ZC2HC1A,non_coding_transcript_exon_variant,,ENST00000521873,;	288	94	138	SUCCESS
CNBD1	168975	.	GRCh37	8	88249211	88249211	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	50	82	0	ENST00000518476.1:c.642T>C	p.Tyr214=	p.Y214=	ENST00000518476	NM_173538.2	214	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS55259.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTATAAAAA	NONE	.	.	hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF124,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000430073	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000518476	Transcript	.	.	ENSG00000176571	26663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNBD1_HUMAN	CNBD1	HGNC	.	.	UPI000006EA68	SNV	CNBD1,synonymous_variant,p.%3D,ENST00000518476,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522427,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522105,;	693	82	146	SUCCESS
TMEM67	91147	.	GRCh37	8	94767137	94767137	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs954190687	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	21	90	0	ENST00000453321.3:c.-6G>A		p.*2*	ENST00000453321	NM_153704.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6258.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTCGGTACC	NONE	.	.	.	.	.	ENSP00000389998	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000453321	Transcript	1	.	ENSG00000164953	28396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MKS3_HUMAN	TMEM67	HGNC	E5RG10_HUMAN,C9JRQ8_HUMAN	.	UPI0000D624E9	SNV	TMEM67,splice_region_variant,,ENST00000452276,;TMEM67,splice_region_variant,,ENST00000518319,;TMEM67,splice_region_variant,,ENST00000409623,;TMEM67,splice_region_variant,,ENST00000498673,;TMEM67,5_prime_UTR_variant,,ENST00000453906,;TMEM67,5_prime_UTR_variant,,ENST00000453321,;TMEM67,upstream_gene_variant,,ENST00000521517,;TMEM67,5_prime_UTR_variant,,ENST00000455946,;TMEM67,5_prime_UTR_variant,,ENST00000521222,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,non_coding_transcript_exon_variant,,ENST00000475305,;TMEM67,upstream_gene_variant,,ENST00000481620,;TMEM67,upstream_gene_variant,,ENST00000323130,;TMEM67,upstream_gene_variant,,ENST00000521065,;	53	90	126	SUCCESS
ERP44	23071	.	GRCh37	9	102784454	102784454	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1248924033	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	49	208	0	ENST00000262455.6:c.341G>A	p.Arg114His	p.R114H	ENST00000262455	NM_015051.1	114	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS35082.1	341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTACGAAAC	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF49,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000262455	.	5/12	.	.	.	.	.	.	.	.	COSM3413200	5/12	PASS	ENST00000262455	Transcript	.	.	ENSG00000023318	18311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.848)	.	deleterious(0)	1	ERP44_HUMAN	ERP44	HGNC	.	.	UPI0000072130	SNV	ERP44,missense_variant,p.Arg114His,ENST00000262455,;	541	208	227	SUCCESS
BRINP1	1620	.	GRCh37	9	121929740	121929740	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	43	58	0	ENST00000265922.3:c.1908C>T	p.Gly636=	p.G636=	ENST00000265922	NM_014618.2	636	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6822.1	1908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGGCCCTG	NONE	.	.	hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,synonymous_variant,p.%3D,ENST00000265922,;BRINP1,intron_variant,,ENST00000482797,;	2370	59	83	SUCCESS
BRINP1	1620	.	GRCh37	9	121930107	121930107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	53	0	ENST00000265922.3:c.1541C>A	p.Thr514Asn	p.T514N	ENST00000265922	NM_014618.2	514	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS6822.1	1541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGTGTCG	NONE	.	.	hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	tolerated(0.11)	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,missense_variant,p.Thr514Asn,ENST00000265922,;BRINP1,intron_variant,,ENST00000482797,;	2003	53	64	SUCCESS
CIZ1	25792	.	GRCh37	9	130929424	130929424	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	50	0	ENST00000372938.5:c.2315C>A	p.Ser772Tyr	p.S772Y	ENST00000372938	NM_001131016.1	772	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS6894.1	2315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGATATA	NONE	.	.	hmmpanther:PTHR15491:SF9,hmmpanther:PTHR15491	.	.	ENSP00000377232	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000393608	Transcript	.	.	ENSG00000148337	16744	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.862)	.	deleterious(0)	.	CIZ1_HUMAN	CIZ1	HGNC	Q9Y3F8_HUMAN,F6WSM2_HUMAN,F6VD24_HUMAN,B0EXJ7_HUMAN	.	UPI0000141722	SNV	CIZ1,missense_variant,p.Ser743Tyr,ENST00000325721,;CIZ1,missense_variant,p.Ser716Tyr,ENST00000372948,;CIZ1,missense_variant,p.Ser744Tyr,ENST00000357558,;CIZ1,missense_variant,p.Ser694Tyr,ENST00000415526,;CIZ1,missense_variant,p.Ser798Tyr,ENST00000538431,;CIZ1,missense_variant,p.Ser772Tyr,ENST00000372938,;CIZ1,missense_variant,p.Ser671Tyr,ENST00000541172,;CIZ1,missense_variant,p.Ser744Tyr,ENST00000277465,;CIZ1,missense_variant,p.Ser772Tyr,ENST00000393608,;CIZ1,missense_variant,p.Ser692Tyr,ENST00000372954,;C9orf16,downstream_gene_variant,,ENST00000372994,;CIZ1,non_coding_transcript_exon_variant,,ENST00000485862,;CIZ1,non_coding_transcript_exon_variant,,ENST00000471773,;CIZ1,non_coding_transcript_exon_variant,,ENST00000476727,;CIZ1,non_coding_transcript_exon_variant,,ENST00000461765,;CIZ1,non_coding_transcript_exon_variant,,ENST00000485001,;CIZ1,non_coding_transcript_exon_variant,,ENST00000471839,;CIZ1,upstream_gene_variant,,ENST00000491487,;C9orf16,downstream_gene_variant,,ENST00000489240,;C9orf16,downstream_gene_variant,,ENST00000492588,;C9orf16,downstream_gene_variant,,ENST00000486420,;CIZ1,downstream_gene_variant,,ENST00000476541,;	2518	50	56	SUCCESS
RRAGA	10670	.	GRCh37	9	19050112	19050112	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	58	0	ENST00000380527.1:c.455C>T	p.Ser152Phe	p.S152F	ENST00000380527	NM_006570.4	152	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS6488.1	455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCTCGCC	NONE	.	.	hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF4,Pfam_domain:PF04670,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000369899	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380527	Transcript	.	.	ENSG00000155876	16963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	deleterious(0.02)	.	RRAGA_HUMAN	RRAGA	HGNC	.	.	UPI000006D235	SNV	RRAGA,missense_variant,p.Ser152Phe,ENST00000380527,;HAUS6,downstream_gene_variant,,ENST00000380502,;	741	58	48	SUCCESS
IFNA6	3443	.	GRCh37	9	21350829	21350829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	82	0	ENST00000380210.1:c.58T>A	p.Cys20Ser	p.C20S	ENST00000380210	NM_021002.2	20	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS6504.1	58	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCAGCTTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691:SF27,hmmpanther:PTHR11691	.	.	ENSP00000369558	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380210	Transcript	.	.	ENSG00000120235	5427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.18)	.	IFNA6_HUMAN	IFNA6	HGNC	.	.	UPI000004775F	SNV	IFNA6,missense_variant,p.Cys20Ser,ENST00000380210,;	549	82	65	SUCCESS
TRPM6	140803	.	GRCh37	9	77435310	77435310	+	synonymous_variant	Silent	SNP	G	G	T	rs1477937710	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	29	0	ENST00000360774.1:c.1044C>A	p.Ile348=	p.I348=	ENST00000360774	NM_017662.4	348	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS6647.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGATGAT	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	9/39	.	.	.	.	.	.	.	.	.	9/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,synonymous_variant,p.%3D,ENST00000449912,;TRPM6,synonymous_variant,p.%3D,ENST00000376871,;TRPM6,synonymous_variant,p.%3D,ENST00000376872,;TRPM6,synonymous_variant,p.%3D,ENST00000451710,;TRPM6,synonymous_variant,p.%3D,ENST00000361255,;TRPM6,synonymous_variant,p.%3D,ENST00000360774,;TRPM6,synonymous_variant,p.%3D,ENST00000376864,;TRPM6,non_coding_transcript_exon_variant,,ENST00000483186,;	1282	29	47	SUCCESS
SPATA31D4	389761	.	GRCh37	9	84547809	84547809	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	46	139	0	ENST00000419782.2:n.2733C>T		p.*911*	ENST00000419782				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCCATATT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000585776	Transcript	.	.	ENSG00000267559	.	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000585776,;RP11-383M4.2,upstream_gene_variant,,ENST00000427387,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000341875,;SPATA31D4,non_coding_transcript_exon_variant,,ENST00000419782,;	.	139	137	SUCCESS
NOX1	27035	.	GRCh37	X	100104832	100104832	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	149	222	0	ENST00000372966.3:c.1225C>G	p.Pro409Ala	p.P409A	ENST00000372966	NM_001271815.1	409	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS14474.1	1225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGGGGTGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343,Prints_domain:PR00466	.	.	ENSP00000362057	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000372966	Transcript	.	.	ENSG00000007952	7889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOX1_HUMAN	NOX1	HGNC	.	.	UPI00001303C1	SNV	NOX1,missense_variant,p.Pro94Ala,ENST00000427768,;NOX1,missense_variant,p.Pro372Ala,ENST00000372960,;NOX1,missense_variant,p.Pro409Ala,ENST00000217885,;NOX1,missense_variant,p.Pro409Ala,ENST00000372966,;NOX1,intron_variant,,ENST00000372964,;	1431	222	268	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	105011034	105011034	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	106	210	0	ENST00000372582.1:c.1441A>T	p.Arg481Ter	p.R481*	ENST00000372582	NM_017416.1	481	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS14517.1	1441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGACGG	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000361663	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,stop_gained,p.Arg481Ter,ENST00000344799,;IL1RAPL2,stop_gained,p.Arg481Ter,ENST00000372582,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;	2197	210	220	SUCCESS
COL4A6	1288	.	GRCh37	X	107423750	107423750	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	50	104	0	ENST00000372216.4:c.2129T>A	p.Leu710Ter	p.L710*	ENST00000372216	NM_001847.2	710	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS14541.1	2129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTAATTCA	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164	.	.	ENSP00000361290	.	25/45	.	.	.	.	.	.	.	.	.	25/45	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,stop_gained,p.Leu710Ter,ENST00000394872,;COL4A6,stop_gained,p.Leu710Ter,ENST00000372216,;COL4A6,stop_gained,p.Leu709Ter,ENST00000334504,;COL4A6,stop_gained,p.Leu709Ter,ENST00000545689,;COL4A6,stop_gained,p.Leu709Ter,ENST00000538570,;	2230	104	113	SUCCESS
RGAG1	0	.	GRCh37	X	109693862	109693862	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	56	0	ENST00000465301.2:c.17A>G	p.His6Arg	p.H6R	ENST00000465301	NM_020769.2	6	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14552.1	17	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACATTCAC	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	.	.	ENSP00000419786	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000465301	Transcript	.	.	ENSG00000243978	29245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated_low_confidence(0.08)	.	RGAG1_HUMAN	RGAG1	HGNC	E5RKA1_HUMAN	.	UPI000006F841	SNV	RGAG1,missense_variant,p.His6Arg,ENST00000540313,;RGAG1,missense_variant,p.His6Arg,ENST00000520821,;RGAG1,missense_variant,p.His6Arg,ENST00000465301,;	263	56	62	SUCCESS
NDUFA1	4694	.	GRCh37	X	119005660	119005660	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	79	0	ENST00000371437.4:c.-215C>A		p.*72*	ENST00000371437	NM_004541.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14589.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCCGGGAG	NONE	.	.	.	.	.	ENSP00000360497	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371442	Transcript	.	.	ENSG00000125352	12974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R113A_HUMAN	RNF113A	HGNC	.	.	UPI000013C310	SNV	RNF113A,5_prime_UTR_variant,,ENST00000371442,;NDUFA1,5_prime_UTR_variant,,ENST00000371437,;	132	79	76	SUCCESS
MAGEA8	4107	.	GRCh37	X	149013280	149013280	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	53	0	ENST00000286482.1:c.234T>A	p.Thr78=	p.T78=	ENST00000286482	NM_005364.4	78	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14692.1	234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACTCTGTG	NONE	.	.	Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF65	.	.	ENSP00000438293	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000535454	Transcript	.	.	ENSG00000156009	6806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA8_HUMAN	MAGEA8	HGNC	.	.	UPI0000071C79	SNV	MAGEA8,synonymous_variant,p.%3D,ENST00000542674,;MAGEA8,synonymous_variant,p.%3D,ENST00000535454,;MAGEA8,synonymous_variant,p.%3D,ENST00000286482,;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,;MAGEA8,non_coding_transcript_exon_variant,,ENST00000493910,;MAGEA8,non_coding_transcript_exon_variant,,ENST00000345830,;	783	53	61	SUCCESS
ZNF185	7739	.	GRCh37	X	152110314	152110314	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	76	0	ENST00000370268.4:c.1209-3497C>A		p.*403*	ENST00000370268				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55529.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGCCGCCA	NONE	.	.	.	.	.	ENSP00000440847	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535861	Transcript	.	.	ENSG00000147394	12976	.	.	MODIFIER	16/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN185_HUMAN	ZNF185	HGNC	H7BZT5_HUMAN,B3KPM4_HUMAN	.	UPI0001D27F7E	SNV	ZNF185,missense_variant,p.Ala21Asp,ENST00000454925,;ZNF185,intron_variant,,ENST00000318504,;ZNF185,intron_variant,,ENST00000370270,;ZNF185,intron_variant,,ENST00000324823,;ZNF185,intron_variant,,ENST00000449285,;ZNF185,intron_variant,,ENST00000370268,;ZNF185,intron_variant,,ENST00000318529,;ZNF185,intron_variant,,ENST00000539731,;ZNF185,intron_variant,,ENST00000447792,;ZNF185,intron_variant,,ENST00000535861,;ZNF185,intron_variant,,ENST00000426821,;ZNF185,intron_variant,,ENST00000436731,;	.	76	92	SUCCESS
NHS	4810	.	GRCh37	X	17745541	17745541	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	70	136	0	ENST00000380060.3:c.3252T>C	p.Arg1084=	p.R1084=	ENST00000380060	NM_198270.2	1084	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS14181.1	3252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGTCATCC	NONE	.	.	hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039	.	.	ENSP00000369400	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000380060	Transcript	.	.	ENSG00000188158	7820	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NHS_HUMAN	NHS	HGNC	.	.	UPI00001DFBF3	SNV	NHS,synonymous_variant,p.%3D,ENST00000380060,;NHS,synonymous_variant,p.%3D,ENST00000398097,;NHS,downstream_gene_variant,,ENST00000485305,;	3590	136	136	SUCCESS
EFHC2	80258	.	GRCh37	X	44109644	44109644	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	85	0	ENST00000420999.1:c.654C>A	p.Thr218=	p.T218=	ENST00000420999	NM_025184.3	218	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS55405.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGGTGTC	NONE	.	.	hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11	.	.	ENSP00000404232	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000420999	Transcript	.	.	ENSG00000183690	26233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFHC2_HUMAN	EFHC2	HGNC	.	.	UPI00000717F2	SNV	EFHC2,synonymous_variant,p.%3D,ENST00000420999,;	738	85	78	SUCCESS
ITIH6	347365	.	GRCh37	X	54783459	54783459	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	31	0	ENST00000218436.6:c.3048C>T	p.Ser1016=	p.S1016=	ENST00000218436	NM_198510.2	1016	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14361.1	3048	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGGATTC	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	.	ENSP00000218436	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,synonymous_variant,p.%3D,ENST00000218436,;	3078	31	45	SUCCESS
HMGN5	79366	.	GRCh37	X	80370663	80370663	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	262	241	524	0	ENST00000358130.2:c.334G>T	p.Gly112Ter	p.G112*	ENST00000358130	NM_030763.2	112	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS14448.1	334	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCCTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23145	.	.	ENSP00000350848	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000358130	Transcript	.	.	ENSG00000198157	8013	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMGN5_HUMAN	HMGN5	HGNC	Q5JSL0_HUMAN,Q5JSK8_HUMAN,Q5JSK7_HUMAN	.	UPI0000130542	SNV	HMGN5,stop_gained,p.Gly112Ter,ENST00000358130,;HMGN5,stop_gained,p.Gly112Ter,ENST00000430960,;HMGN5,stop_gained,p.Gly92Ter,ENST00000447319,;HMGN5,stop_gained,p.Gly102Ter,ENST00000373250,;HMGN5,downstream_gene_variant,,ENST00000451455,;HMGN5,downstream_gene_variant,,ENST00000436386,;HMGN5,non_coding_transcript_exon_variant,,ENST00000491275,;	663	524	503	SUCCESS
POU3F4	5456	.	GRCh37	X	82764109	82764109	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	49	102	0	ENST00000373200.2:c.777G>T	p.Ala259=	p.A259=	ENST00000373200	NM_000307.4	259	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14450.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGGATTC	NONE	.	.	PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF66,Pfam_domain:PF00157,Gene3D:1.10.260.40,SMART_domains:SM00352,PIRSF_domain:PIRSF002629,Superfamily_domains:SSF47413,Prints_domain:PR00028	.	.	ENSP00000362296	.	1/1	.	.	.	.	.	.	.	.	COSM1125940,COSM1599791	1/1	PASS	ENST00000373200	Transcript	.	.	ENSG00000196767	9217	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	PO3F4_HUMAN	POU3F4	HGNC	.	.	UPI000045785D	SNV	POU3F4,synonymous_variant,p.%3D,ENST00000373200,;RP3-326L13.3,upstream_gene_variant,,ENST00000607789,;RP3-326L13.2,non_coding_transcript_exon_variant,,ENST00000607095,;	841	102	117	SUCCESS
APOOL	139322	.	GRCh37	X	84301522	84301522	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	230	511	0	ENST00000373173.2:c.86A>G	p.Glu29Gly	p.E29G	ENST00000373173	NM_198450.5	29	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS48138.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGAGGAAT	NONE	.	.	hmmpanther:PTHR14564,hmmpanther:PTHR14564:SF3,Pfam_domain:PF09769	.	.	ENSP00000362268	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000373173	Transcript	.	.	ENSG00000155008	24009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	APOOL_HUMAN	APOOL	HGNC	.	.	UPI00001D6936	SNV	APOOL,missense_variant,p.Glu29Gly,ENST00000373173,;	173	511	469	SUCCESS
MKI67	4288	.	GRCh37	10	129903267	129903267	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	21	179	0	ENST00000368654.3:c.6837del	p.Met2279IlefsTer35	p.M2279Ifs*35	ENST00000368654	NM_002417.4	2279	atG/at	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS7659.1	6837	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTTTCATGTC	NONE	.	.	hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	.	.	ENSP00000357643	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000368654	Transcript	.	.	ENSG00000148773	7107	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KI67_HUMAN	MKI67	HGNC	.	.	UPI000013DB54	deletion	MKI67,frameshift_variant,p.Met2279IlefsTer35,ENST00000368654,;MKI67,frameshift_variant,p.Met1919IlefsTer35,ENST00000368653,;MKI67,upstream_gene_variant,,ENST00000464771,;	7213	179	203	SUCCESS
MRC1L1	0	.	GRCh37	10	17875789	17875789	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	26	0	ENST00000331429.2:c.753C>T	p.Asn251=	p.N251=	ENST00000331429		251	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	.	753	MUTECT|VARSCANS	.	CAGAACGCTGA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF55,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000332124	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000331429	Transcript	.	.	ENSG00000183748	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MRC1L1	Clone_based_vega_gene	B4DLK9_HUMAN	.	UPI00001AFE88	SNV	MRC1L1,synonymous_variant,p.%3D,ENST00000331429,;MRC1L1,synonymous_variant,p.%3D,ENST00000457317,;	856	26	28	SUCCESS
MRC1	4360	.	GRCh37	10	18122743	18122743	+	synonymous_variant	Silent	SNP	C	C	T	rs782060632	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	154	15	174	0	ENST00000239761.3:c.753C>T	p.Asn251=	p.N251=	ENST00000239761	NM_002438.3	251	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS7123.1	753	MUTECT|MUSE	.	CAGAACGCTGA	NONE	byFrequency	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF55,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000239761	.	4/30	.	.	.	.	.	.	.	.	rs782060632	4/30	PASS	ENST00000239761	Transcript	.	.	ENSG00000120586	7228	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRC1_HUMAN	MRC1	HGNC	B4DLK9_HUMAN	.	UPI000012EB9A	SNV	MRC1,synonymous_variant,p.%3D,ENST00000239761,;	856	174	170	SUCCESS
TSGA10IP	254187	.	GRCh37	11	65726395	65726395	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	87	0	ENST00000532620.1:n.1595T>C		p.*532*	ENST00000532620				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31611.1	.	MUTECT|MUSE	.	GGAGCTGCAAG	NONE	.	2765	.	.	.	ENSP00000310448	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000312397	Transcript	.	.	ENSG00000175467	10538	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNUT1_HUMAN	SART1	HGNC	.	.	UPI00000732D5	SNV	SART1,upstream_gene_variant,,ENST00000312397,;TSGA10IP,non_coding_transcript_exon_variant,,ENST00000534740,;TSGA10IP,non_coding_transcript_exon_variant,,ENST00000533763,;TSGA10IP,non_coding_transcript_exon_variant,,ENST00000532620,;SART1,upstream_gene_variant,,ENST00000528573,;SART1,upstream_gene_variant,,ENST00000532333,;SART1,upstream_gene_variant,,ENST00000530251,;SART1,upstream_gene_variant,,ENST00000529532,;TSGA10IP,missense_variant,p.Leu455Pro,ENST00000608857,;	.	87	74	SUCCESS
FAM155A	728215	.	GRCh37	13	108518523	108518523	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	44	0	ENST00000375915.2:c.422G>C	p.Gly141Ala	p.G141A	ENST00000375915	NM_001080396.2	141	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS32006.1	422	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCGCCGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2	.	.	ENSP00000365080	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000375915	Transcript	.	.	ENSG00000204442	33877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated_low_confidence(0.74)	.	F155A_HUMAN	FAM155A	HGNC	.	.	UPI000045882C	SNV	FAM155A,missense_variant,p.Gly141Ala,ENST00000375915,;	561	44	53	SUCCESS
LRRK1	79705	.	GRCh37	15	101608980	101608980	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	7	81	0	ENST00000388948.3:c.5975G>A	p.Arg1992Lys	p.R1992K	ENST00000388948	NM_024652.3	1992	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS42086.1	5975	MUTECT|MUSE	.	CGCCAGGGAGT	NONE	.	.	.	.	.	ENSP00000373600	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.2)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Arg1992Lys,ENST00000388948,;LRRK1,missense_variant,p.Arg1989Lys,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,3_prime_UTR_variant,,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;	6334	81	104	SUCCESS
CDAN1	146059	.	GRCh37	15	43021296	43021296	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	51	0	ENST00000356231.3:c.2570A>G	p.Asn857Ser	p.N857S	ENST00000356231	NM_138477.2	857	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS32209.1	2570	MUTECT|MUSE	.	GCTGGTTGTGG	NONE	.	.	Pfam_domain:PF15296	.	.	ENSP00000348564	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000356231	Transcript	1	.	ENSG00000140326	1713	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.632)	.	deleterious(0)	.	CDAN1_HUMAN	CDAN1	HGNC	H3BM60_HUMAN	.	UPI0000229BCB	SNV	CDAN1,missense_variant,p.Asn857Ser,ENST00000356231,;CDAN1,missense_variant,p.Asn188Ser,ENST00000562465,;CDAN1,upstream_gene_variant,,ENST00000563604,;CDAN1,upstream_gene_variant,,ENST00000565930,;	2594	51	60	SUCCESS
MYH11	4629	.	GRCh37	16	15815347	15815347	+	synonymous_variant	Silent	SNP	G	G	T	rs144823441	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	28	157	0	ENST00000300036.5:c.4510C>A	p.Arg1504=	p.R1504=	ENST00000300036	NM_002474.2	1504	Cgg/Agg	0	A:0.0002	.	.	.	.	T	R	protein_coding	YES	CCDS45423.1	4531	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCGCTCGA	NONE	byCluster	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140	.	A:0	ENSP00000379616	.	33/42	.	.	.	.	.	.	.	.	rs144823441,COSM1216127,COSM1216126	33/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	.	.	.	0,1,1	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,synonymous_variant,p.%3D,ENST00000576790,;MYH11,synonymous_variant,p.%3D,ENST00000300036,;MYH11,synonymous_variant,p.%3D,ENST00000396324,;MYH11,synonymous_variant,p.%3D,ENST00000452625,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,intron_variant,,ENST00000396355,;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000396354,;NDE1,upstream_gene_variant,,ENST00000571896,;NDE1,upstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000576164,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;	4619	157	167	SUCCESS
SALL1	6299	.	GRCh37	16	51173735	51173735	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200755920	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	9	134	0	ENST00000251020.4:c.2398G>A	p.Asp800Asn	p.D800N	ENST00000251020	NM_002968.2	800	Gac/Aac	0	.	T:0.0008	.	T:0	.	T	D/N	protein_coding	YES	CCDS10747.1	2398	MUTECT|MUSE	.	GCTGTCGGGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	T:0	.	ENSP00000251020	T:0	2/3	.	.	.	.	.	.	.	.	rs200755920	2/3	PASS	ENST00000251020	Transcript	.	T:0.0002	ENSG00000103449	10524	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.373)	T:0	deleterious(0)	.	SALL1_HUMAN	SALL1	HGNC	H3BSM9_HUMAN	.	UPI000013CCD8	SNV	SALL1,missense_variant,p.Asp800Asn,ENST00000251020,;SALL1,missense_variant,p.Asp703Asn,ENST00000570206,;SALL1,missense_variant,p.Asp703Asn,ENST00000440970,;SALL1,intron_variant,,ENST00000541611,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	2432	134	123	SUCCESS
DEF8	54849	.	GRCh37	16	90015867	90015867	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	27	0	ENST00000268676.7:c.-7T>C		p.*3*	ENST00000268676	NM_207514.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10989.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCTAGAGG	NONE	.	.	.	.	.	ENSP00000268676	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000268676	Transcript	.	.	ENSG00000140995	25969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DEFI8_HUMAN	DEF8	HGNC	H3BT87_HUMAN,H3BRA7_HUMAN,H3BQX9_HUMAN,H3BNN0_HUMAN,H3BMP4_HUMAN	.	UPI0000359601	SNV	DEF8,5_prime_UTR_variant,,ENST00000567884,;DEF8,5_prime_UTR_variant,,ENST00000567874,;DEF8,5_prime_UTR_variant,,ENST00000418391,;DEF8,5_prime_UTR_variant,,ENST00000563594,;DEF8,5_prime_UTR_variant,,ENST00000569061,;DEF8,5_prime_UTR_variant,,ENST00000569453,;DEF8,5_prime_UTR_variant,,ENST00000268676,;DEF8,5_prime_UTR_variant,,ENST00000566820,;DEF8,5_prime_UTR_variant,,ENST00000570182,;DEF8,5_prime_UTR_variant,,ENST00000566079,;DEF8,5_prime_UTR_variant,,ENST00000563795,;DEF8,intron_variant,,ENST00000561959,;DEF8,intron_variant,,ENST00000561741,;DEF8,intron_variant,,ENST00000562986,;DEF8,intron_variant,,ENST00000562578,;DEF8,intron_variant,,ENST00000567999,;DEF8,upstream_gene_variant,,ENST00000564836,;DEF8,non_coding_transcript_exon_variant,,ENST00000568096,;DEF8,non_coding_transcript_exon_variant,,ENST00000569803,;DEF8,non_coding_transcript_exon_variant,,ENST00000567243,;DEF8,5_prime_UTR_variant,,ENST00000561784,;	83	27	33	SUCCESS
ZNF700	90592	.	GRCh37	19	12059950	12059950	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	68	0	ENST00000254321.5:c.1111T>C	p.Phe371Leu	p.F371L	ENST00000254321	NM_144566.2	371	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS32915.1	1111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCTTTTAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000254321	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254321	Transcript	.	.	ENSG00000196757	25292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	tolerated(0.07)	.	ZN700_HUMAN	ZNF700	HGNC	.	.	UPI00000713C0	SNV	ZNF700,missense_variant,p.Phe371Leu,ENST00000254321,;ZNF700,missense_variant,p.Phe353Leu,ENST00000482090,;ZNF763,intron_variant,,ENST00000538752,;ZNF763,intron_variant,,ENST00000590798,;ZNF763,intron_variant,,ENST00000591944,;CTD-2006C1.12,intron_variant,,ENST00000586394,;ZNF763,intron_variant,,ENST00000591441,;ZNF763,upstream_gene_variant,,ENST00000586354,;	1254	68	65	SUCCESS
PCSK4	54760	.	GRCh37	19	1487019	1487019	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781082861	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	43	0	ENST00000300954.5:c.901G>A	p.Gly301Ser	p.G301S	ENST00000300954	NM_017573.3	301	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12069.2	901	MUTECT|MUSE	.	GCCGCCGTTGC	NONE	.	.	hmmpanther:PTHR10795:SF338,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743	.	.	ENSP00000300954	.	8/15	.	.	.	.	.	.	.	.	rs781082861	8/15	PASS	ENST00000300954	Transcript	.	.	ENSG00000115257	8746	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCSK4_HUMAN	PCSK4	HGNC	.	.	UPI000014E136	SNV	PCSK4,missense_variant,p.Gly301Ser,ENST00000300954,;REEP6,upstream_gene_variant,,ENST00000233596,;PCSK4,downstream_gene_variant,,ENST00000588671,;CTB-25B13.6,downstream_gene_variant,,ENST00000585643,;PCSK4,downstream_gene_variant,,ENST00000590057,;PCSK4,downstream_gene_variant,,ENST00000587784,;PCSK4,downstream_gene_variant,,ENST00000591687,;PCSK4,missense_variant,p.Arg296Gln,ENST00000588195,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,intron_variant,,ENST00000591201,;REEP6,upstream_gene_variant,,ENST00000591735,;PCSK4,upstream_gene_variant,,ENST00000586074,;PCSK4,upstream_gene_variant,,ENST00000591303,;PCSK4,upstream_gene_variant,,ENST00000586002,;	963	43	63	SUCCESS
ZFR2	23217	.	GRCh37	19	3806099	3806099	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs868113469	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	63	0	ENST00000262961.4:c.2668C>T	p.Arg890Trp	p.R890W	ENST00000262961	NM_015174.1	890	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS45921.1	2668	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGGAAGG	NONE	.	.	PROSITE_profiles:PS51703,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85,Pfam_domain:PF07528,SMART_domains:SM00572	.	.	ENSP00000262961	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,missense_variant,p.Arg890Trp,ENST00000262961,;MATK,upstream_gene_variant,,ENST00000395045,;MATK,upstream_gene_variant,,ENST00000590849,;MATK,upstream_gene_variant,,ENST00000590980,;MATK,upstream_gene_variant,,ENST00000590821,;MATK,upstream_gene_variant,,ENST00000592300,;MATK,upstream_gene_variant,,ENST00000592612,;	2679	63	79	SUCCESS
SSR2	6746	.	GRCh37	1	155990726	155990726	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	8	62	0	ENST00000295702.4:c.-48C>T		p.*16*	ENST00000295702	NM_003145.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1126.1	.	MUTECT|MUSE|VARSCANS	.	AGAGAGCGTCA	NONE	.	.	.	.	.	ENSP00000295702	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000295702	Transcript	.	.	ENSG00000163479	11324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SSRB_HUMAN	SSR2	HGNC	E9PQI4_HUMAN,E9PQ05_HUMAN,B4DUJ9_HUMAN	.	UPI0000136002	SNV	SSR2,5_prime_UTR_variant,,ENST00000295702,;SSR2,upstream_gene_variant,,ENST00000496742,;SSR2,upstream_gene_variant,,ENST00000531917,;SSR2,upstream_gene_variant,,ENST00000526212,;SSR2,upstream_gene_variant,,ENST00000480567,;SSR2,upstream_gene_variant,,ENST00000529008,;SSR2,5_prime_UTR_variant,,ENST00000473699,;SSR2,non_coding_transcript_exon_variant,,ENST00000480176,;SSR2,non_coding_transcript_exon_variant,,ENST00000368311,;SSR2,upstream_gene_variant,,ENST00000484320,;SSR2,upstream_gene_variant,,ENST00000467041,;SSR2,upstream_gene_variant,,ENST00000488179,;SSR2,upstream_gene_variant,,ENST00000531790,;SSR2,upstream_gene_variant,,ENST00000532074,;SSR2,upstream_gene_variant,,ENST00000474377,;SSR2,upstream_gene_variant,,ENST00000472898,;SSR2,upstream_gene_variant,,ENST00000466905,;	25	62	84	SUCCESS
SGSM1	129049	.	GRCh37	22	25301103	25301103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	5	149	0	ENST00000400359.4:c.2932G>A	p.Val978Ile	p.V978I	ENST00000400359	NM_133454.2	978	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS46674.1	2932	MUTECT|MUSE	.	GCTATGTCCAG	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF187,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000383212	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000400359	Transcript	.	.	ENSG00000167037	29410	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.264)	.	deleterious(0.01)	.	SGSM1_HUMAN	SGSM1	HGNC	.	.	UPI00006EB130	SNV	SGSM1,missense_variant,p.Val978Ile,ENST00000400359,;SGSM1,missense_variant,p.Val923Ile,ENST00000400358,;SNORD56,upstream_gene_variant,,ENST00000362913,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;	2939	149	152	SUCCESS
NUP50	10762	.	GRCh37	22	45580526	45580526	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	145	0	ENST00000347635.4:c.1397A>G	p.Lys466Arg	p.K466R	ENST00000347635	NM_007172.3	466	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14062.1	1397	MUTECT|MUSE	.	GAAAAAGGATG	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR13118,Superfamily_domains:SSF50729	.	.	ENSP00000345895	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000347635	Transcript	.	.	ENSG00000093000	8065	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.079)	.	tolerated(0.12)	.	NUP50_HUMAN	NUP50	HGNC	B4E2D3_HUMAN	.	UPI000013079E	SNV	NUP50,missense_variant,p.Lys438Arg,ENST00000396096,;NUP50,missense_variant,p.Lys438Arg,ENST00000407019,;NUP50,missense_variant,p.Lys466Arg,ENST00000347635,;NUP50,missense_variant,p.Lys216Arg,ENST00000425733,;NUP50,downstream_gene_variant,,ENST00000422489,;NUP50,downstream_gene_variant,,ENST00000493456,;NUP50,non_coding_transcript_exon_variant,,ENST00000469163,;	1863	145	104	SUCCESS
BIRC6	57448	.	GRCh37	2	32768519	32768519	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs989793428	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	83	0	ENST00000421745.2:c.12503C>T	p.Pro4168Leu	p.P4168L	ENST00000421745	NM_016252.3	4168	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS33175.2	12503	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCCGGGCT	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	62/74	.	.	.	.	.	.	.	.	.	62/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Pro4168Leu,ENST00000421745,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;	12637	83	82	SUCCESS
USP34	9736	.	GRCh37	2	61607465	61607465	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs765855409	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	121	0	ENST00000398571.2:c.853C>T	p.Arg285Ter	p.R285*	ENST00000398571	NM_014709.3	285	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS42686.1	853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGTAACT	NONE	.	.	.	.	.	ENSP00000381577	.	7/80	.	.	.	.	.	.	.	.	rs765855409,COSM419133	7/80	PASS	ENST00000398571	Transcript	.	.	ENSG00000115464	20066	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	UBP34_HUMAN	USP34	HGNC	.	.	UPI0000410E09	SNV	USP34,stop_gained,p.Arg285Ter,ENST00000398571,;USP34,3_prime_UTR_variant,,ENST00000453133,;	930	121	76	SUCCESS
FSTL1	11167	.	GRCh37	3	120122185	120122185	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	7	111	0	ENST00000295633.3:c.598G>C	p.Ala200Pro	p.A200P	ENST00000295633	NM_007085.4	200	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS2998.1	598	MUTECT|MUSE	.	GAGAGCATCAA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR10913:SF38,hmmpanther:PTHR10913,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000295633	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000295633	Transcript	.	.	ENSG00000163430	3972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.487)	.	deleterious(0.03)	.	FSTL1_HUMAN	FSTL1	HGNC	Q9BZQ0_HUMAN,C9J5G4_HUMAN	.	UPI00000422DB	SNV	FSTL1,missense_variant,p.Ala200Pro,ENST00000295633,;FSTL1,missense_variant,p.Ala165Pro,ENST00000424703,;FSTL1,upstream_gene_variant,,ENST00000480823,;FSTL1,downstream_gene_variant,,ENST00000468098,;FSTL1,upstream_gene_variant,,ENST00000488318,;	955	111	93	SUCCESS
GADL1	339896	.	GRCh37	3	30903143	30903143	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	204	17	237	0	ENST00000282538.5:c.152A>T	p.Glu51Val	p.E51V	ENST00000282538	NM_207359.2	51	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS2649.2	152	MUTECT|MUSE|VARSCANS	.	AGGCCTCTTCA	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61	.	.	ENSP00000282538	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000282538	Transcript	.	.	ENSG00000144644	27949	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.104)	.	deleterious(0.01)	.	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,missense_variant,p.Glu51Val,ENST00000454381,;GADL1,missense_variant,p.Glu51Val,ENST00000282538,;	303	237	221	SUCCESS
ADH4	127	.	GRCh37	4	100052694	100052694	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	9	79	0	ENST00000265512.7:c.804G>C	p.Val268=	p.V268=	ENST00000265512	NM_000670.3	268	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS34032.1	804	RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCACACC	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,Gene3D:3.40.50.720,Pfam_domain:PF00107,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000265512	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000265512	Transcript	.	.	ENSG00000198099	252	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADH4_HUMAN	ADH4	HGNC	.	.	UPI00001AE8DE	SNV	ADH4,synonymous_variant,p.%3D,ENST00000265512,;ADH4,synonymous_variant,p.%3D,ENST00000423445,;ADH4,synonymous_variant,p.%3D,ENST00000508393,;ADH4,synonymous_variant,p.%3D,ENST00000505590,;ADH4,downstream_gene_variant,,ENST00000504125,;ADH4,downstream_gene_variant,,ENST00000512499,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,downstream_gene_variant,,ENST00000503944,;ADH4,synonymous_variant,p.%3D,ENST00000509471,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,downstream_gene_variant,,ENST00000503416,;	879	79	94	SUCCESS
GRID2	2895	.	GRCh37	4	94032016	94032016	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1031398261	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	10	136	1	ENST00000282020.4:c.647G>A	p.Arg216Lys	p.R216K	ENST00000282020	NM_001510.2	216	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS3637.1	647	MUTECT|MUSE|VARSCANS	.	CATGAGAATAG	NONE	.	.	hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000282020	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000282020	Transcript	1	.	ENSG00000152208	4576	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.04)	.	tolerated(0.66)	.	GRID2_HUMAN	GRID2	HGNC	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN	.	UPI00001AEA78	SNV	GRID2,missense_variant,p.Arg216Lys,ENST00000282020,;GRID2,missense_variant,p.Arg121Lys,ENST00000510992,;GRID2,non_coding_transcript_exon_variant,,ENST00000505687,;GRID2,non_coding_transcript_exon_variant,,ENST00000515744,;GRID2,missense_variant,p.Arg131Lys,ENST00000502699,;	905	137	122	SUCCESS
FNDC1	84624	.	GRCh37	6	159646689	159646689	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769438661	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	74	0	ENST00000297267.9:c.1007G>A	p.Arg336His	p.R336H	ENST00000297267	NM_032532.2	336	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS47512.1	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCGTATTT	NONE	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000297267	.	8/23	.	.	.	.	.	.	.	.	rs769438661	8/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Arg336His,ENST00000340366,;FNDC1,missense_variant,p.Arg336His,ENST00000297267,;FNDC1,missense_variant,p.Arg295His,ENST00000329629,;FNDC1,non_coding_transcript_exon_variant,,ENST00000480856,;	1207	74	72	SUCCESS
CBLL1	79872	.	GRCh37	7	107399297	107399297	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	85	0	ENST00000440859.3:c.1150A>G	p.Ile384Val	p.I384V	ENST00000440859	NM_024814.2	384	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5747.1	1150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCAATAACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF2	.	.	ENSP00000401277	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000440859	Transcript	.	.	ENSG00000105879	21225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.23)	.	HAKAI_HUMAN	CBLL1	HGNC	C9J2P9_HUMAN,B4DDV7_HUMAN	.	UPI000006E5AC	SNV	CBLL1,missense_variant,p.Ile383Val,ENST00000222597,;CBLL1,missense_variant,p.Ile384Val,ENST00000440859,;CBLL1,downstream_gene_variant,,ENST00000415884,;CBLL1,downstream_gene_variant,,ENST00000420796,;CBLL1,downstream_gene_variant,,ENST00000487517,;CBLL1,downstream_gene_variant,,ENST00000432748,;CBLL1,downstream_gene_variant,,ENST00000493361,;	1617	85	83	SUCCESS
NFE2L3	9603	.	GRCh37	7	26224602	26224602	+	synonymous_variant	Silent	SNP	T	T	C	rs769682486	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	78	1	ENST00000056233.3:c.1284T>C	p.Asn428=	p.N428=	ENST00000056233	NM_004289.6	428	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS5396.1	1284	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CACAATAATAC	BUFFER|p.S425*|c.1274C>G|3	.	.	hmmpanther:PTHR24411:SF8,hmmpanther:PTHR24411	.	.	ENSP00000056233	.	4/4	.	.	.	.	.	.	.	.	rs769682486	4/4	PASS	ENST00000056233	Transcript	.	.	ENSG00000050344	7783	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NF2L3_HUMAN	NFE2L3	HGNC	.	.	UPI000007206C	SNV	NFE2L3,synonymous_variant,p.%3D,ENST00000056233,;NFE2L3,downstream_gene_variant,,ENST00000607375,;HNRNPA2B1,downstream_gene_variant,,ENST00000354667,;HNRNPA2B1,downstream_gene_variant,,ENST00000476233,;NFE2L3,non_coding_transcript_exon_variant,,ENST00000606261,;	1543	79	80	SUCCESS
ZNF853	54753	.	GRCh37	7	6660769	6660769	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373055119	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	38	0	ENST00000457543.3:c.147C>A	p.Ser49Arg	p.S49R	ENST00000457543	NM_017560.1	49	agC/agA	0	T:0	T:0.0008	.	T:0	.	A	S/R	protein_coding	YES	CCDS59048.1	147	MUTECT|MUSE|VARSCANS	.	GGGAGCGAGAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0	T:0.0003	ENSP00000455585	T:0	3/3	.	.	.	.	.	.	.	.	rs373055119	3/3	PASS	ENST00000457543	Transcript	.	T:0.0002	ENSG00000236609	21767	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	T:0	deleterious_low_confidence(0)	.	ZN853_HUMAN	ZNF853	HGNC	.	.	UPI00018E24EF	SNV	ZNF853,missense_variant,p.Ser49Arg,ENST00000457543,;	705	38	38	SUCCESS
COL14A1	7373	.	GRCh37	8	121238908	121238908	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771290485	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	53	0	ENST00000297848.3:c.1907C>T	p.Thr636Met	p.T636M	ENST00000297848	NM_021110.2	636	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS34938.1	1907	MUTECT|MUSE|VARSCANS	.	GGTGACGACAG	SITE|p.T636M|c.1907C>T|3	byFrequency	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000297848	.	16/48	.	.	.	.	.	.	.	.	rs771290485,COSM3833960	16/48	PASS	ENST00000297848	Transcript	1	.	ENSG00000187955	2191	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.027)	.	deleterious(0)	0,1	COEA1_HUMAN	COL14A1	HGNC	.	.	UPI000046D377	SNV	COL14A1,missense_variant,p.Thr449Met,ENST00000434620,;COL14A1,missense_variant,p.Thr636Met,ENST00000309791,;COL14A1,missense_variant,p.Thr541Met,ENST00000247781,;COL14A1,missense_variant,p.Thr636Met,ENST00000297848,;COL14A1,3_prime_UTR_variant,,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,3_prime_UTR_variant,,ENST00000498051,;	2177	53	64	SUCCESS
LONRF1	91694	.	GRCh37	8	12600698	12600698	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	19	191	0	ENST00000398246.3:c.815T>G	p.Leu272Arg	p.L272R	ENST00000398246	NM_152271.3	272	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5987.2	815	MUTECT|MUSE|VARSCANS	.	GAAAAAGAACT	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF4,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000381298	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000398246	Transcript	.	.	ENSG00000154359	26302	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.606)	.	deleterious(0.03)	.	LONF1_HUMAN	LONRF1	HGNC	E9PQH4_HUMAN	.	UPI0000696489	SNV	LONRF1,missense_variant,p.Leu272Arg,ENST00000398246,;LONRF1,5_prime_UTR_variant,,ENST00000533751,;LONRF1,non_coding_transcript_exon_variant,,ENST00000530693,;LONRF1,5_prime_UTR_variant,,ENST00000526680,;LONRF1,upstream_gene_variant,,ENST00000534446,;	885	191	199	SUCCESS
SGCZ	137868	.	GRCh37	8	13948007	13948007	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	63	0	ENST00000382080.1:c.884C>A	p.Pro295Gln	p.P295Q	ENST00000382080	NM_139167.2	295	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS5992.2	884	MUTECT|MUSE|VARSCANS	.	CTGCTGGAGAA	NONE	.	.	Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5	.	.	ENSP00000371512	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000382080	Transcript	.	.	ENSG00000185053	14075	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.54)	.	SGCZ_HUMAN	SGCZ	HGNC	.	.	UPI00002339F6	SNV	SGCZ,missense_variant,p.Pro295Gln,ENST00000382080,;SGCZ,missense_variant,p.Pro248Gln,ENST00000421524,;	1600	63	63	SUCCESS
MYOM2	9172	.	GRCh37	8	2017578	2017578	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	216	27	245	0	ENST00000262113.4:c.755A>T	p.Asp252Val	p.D252V	ENST00000262113	NM_003970.2	252	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS5957.1	755	RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGACGAGG	NONE	.	.	hmmpanther:PTHR19900:SF48,hmmpanther:PTHR19900	.	.	ENSP00000262113	.	8/37	.	.	.	.	.	.	.	.	.	8/37	PASS	ENST00000262113	Transcript	.	.	ENSG00000036448	7614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.258)	.	tolerated(0.06)	.	MYOM2_HUMAN	MYOM2	HGNC	E7EWH9_HUMAN	.	UPI000013D260	SNV	MYOM2,missense_variant,p.Asp252Val,ENST00000262113,;MYOM2,intron_variant,,ENST00000523438,;	896	245	243	SUCCESS
CDC37L1	55664	.	GRCh37	9	4697851	4697851	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs954000905	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	6	142	0	ENST00000381854.3:c.719G>A	p.Cys240Tyr	p.C240Y	ENST00000381854	NM_017913.2	240	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS6454.1	719	MUTECT|MUSE	.	AGGGTGTTTTC	NONE	.	.	hmmpanther:PTHR12800:SF2,hmmpanther:PTHR12800,Pfam_domain:PF08565,SMART_domains:SM01070,Superfamily_domains:0044500	.	.	ENSP00000371278	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000381854	Transcript	.	.	ENSG00000106993	17179	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CD37L_HUMAN	CDC37L1	HGNC	.	.	UPI000006E86C	SNV	CDC37L1,missense_variant,p.Cys240Tyr,ENST00000381854,;CDC37L1,missense_variant,p.Cys240Tyr,ENST00000381858,;	921	142	130	SUCCESS
NOLC1	9221	.	GRCh37	10	103917282	103917282	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs139625185	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	49	0	ENST00000605788.1:c.411T>G	p.Asp137Glu	p.D137E	ENST00000605788	NM_004741.3	137	gaT/gaG	0	G:0	G:0	.	G:0	.	G	D/E	protein_coding	YES	CCDS7530.1	411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGATGAGGA	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23216	G:0.001	G:0.0006	ENSP00000474710	G:0	4/13	.	.	.	.	.	.	.	.	rs139625185,COSM1345443	4/13	PASS	ENST00000605788	Transcript	.	G:0.0002	ENSG00000166197	15608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	G:0	tolerated_low_confidence(1)	0,1	NOLC1_HUMAN	NOLC1	HGNC	Q96J17_HUMAN	.	UPI000013E575	SNV	NOLC1,missense_variant,p.Asp118Glu,ENST00000476468,;NOLC1,missense_variant,p.Asp136Glu,ENST00000370007,;NOLC1,missense_variant,p.Asp137Glu,ENST00000605788,;NOLC1,missense_variant,p.Asp138Glu,ENST00000488254,;NOLC1,missense_variant,p.Asp137Glu,ENST00000405356,;NOLC1,5_prime_UTR_variant,,ENST00000603742,;NOLC1,intron_variant,,ENST00000461421,;NOLC1,upstream_gene_variant,,ENST00000477977,;NOLC1,3_prime_UTR_variant,,ENST00000464969,;NOLC1,intron_variant,,ENST00000603946,;	646	49	45	SUCCESS
PDCD11	22984	.	GRCh37	10	105173039	105173039	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	30	111	0	ENST00000369797.3:c.1145C>A	p.Ala382Asp	p.A382D	ENST00000369797	NM_014976.1	382	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS31276.1	1145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCCACCT	NONE	.	.	PROSITE_profiles:PS50126,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,SMART_domains:SM00316	.	.	ENSP00000358812	.	9/36	.	.	.	.	.	.	.	.	.	9/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,missense_variant,p.Ala382Asp,ENST00000369797,;	1239	112	109	SUCCESS
WDR96	0	.	GRCh37	10	105944803	105944803	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	79	0	ENST00000357060.3:c.2112T>A	p.Asp704Glu	p.D704E	ENST00000357060	NM_025145.5	704	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS31281.1	2112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCATCTCT	NONE	.	.	hmmpanther:PTHR14885,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000349568	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.52)	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,missense_variant,p.Asp635Glu,ENST00000278064,;WDR96,missense_variant,p.Asp705Glu,ENST00000428666,;WDR96,missense_variant,p.Asp704Glu,ENST00000357060,;WDR96,missense_variant,p.Asp65Glu,ENST00000434629,;	2228	79	60	SUCCESS
PNLIPRP1	5407	.	GRCh37	10	118360697	118360697	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	52	0	ENST00000358834.4:c.1047G>T	p.Glu349Asp	p.E349D	ENST00000358834	NM_006229.2	349	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS7595.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGGCTAG	NONE	.	.	hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	.	.	ENSP00000433933	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000528052	Transcript	.	.	ENSG00000187021	9156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	LIPR1_HUMAN	PNLIPRP1	HGNC	E9PR20_HUMAN,E9PMA6_HUMAN	.	UPI000012E6AA	SNV	PNLIPRP1,missense_variant,p.Glu349Asp,ENST00000358834,;PNLIPRP1,missense_variant,p.Glu349Asp,ENST00000534537,;PNLIPRP1,missense_variant,p.Glu349Asp,ENST00000528052,;PNLIPRP1,downstream_gene_variant,,ENST00000527980,;PNLIPRP1,downstream_gene_variant,,ENST00000530319,;PNLIPRP1,downstream_gene_variant,,ENST00000531984,;PNLIPRP1,3_prime_UTR_variant,,ENST00000482833,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,downstream_gene_variant,,ENST00000497792,;PNLIPRP1,downstream_gene_variant,,ENST00000534513,;	1118	52	55	SUCCESS
FGFR2	2263	.	GRCh37	10	123274695	123274695	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	28	159	0	ENST00000358487.5:c.1223A>G	p.Asp408Gly	p.D408G	ENST00000358487	NM_000141.4	408	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS7620.2	1226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGTCTGGC	NONE	.	.	hmmpanther:PTHR24416:SF130,hmmpanther:PTHR24416,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000628	.	.	ENSP00000410294	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.2)	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	SNV	FGFR2,missense_variant,p.Asp319Gly,ENST00000336553,;FGFR2,missense_variant,p.Asp408Gly,ENST00000351936,;FGFR2,missense_variant,p.Asp408Gly,ENST00000346997,;FGFR2,missense_variant,p.Asp296Gly,ENST00000369061,;FGFR2,missense_variant,p.Asp320Gly,ENST00000360144,;FGFR2,missense_variant,p.Asp408Gly,ENST00000358487,;FGFR2,missense_variant,p.Asp294Gly,ENST00000369059,;FGFR2,missense_variant,p.Asp409Gly,ENST00000369058,;FGFR2,missense_variant,p.Asp293Gly,ENST00000356226,;FGFR2,missense_variant,p.Asp180Gly,ENST00000478859,;FGFR2,missense_variant,p.Asp319Gly,ENST00000357555,;FGFR2,missense_variant,p.Asp409Gly,ENST00000369056,;FGFR2,missense_variant,p.Asp409Gly,ENST00000457416,;FGFR2,intron_variant,,ENST00000369060,;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,downstream_gene_variant,,ENST00000463870,;FGFR2,downstream_gene_variant,,ENST00000490349,;FGFR2,3_prime_UTR_variant,,ENST00000604236,;	1818	159	142	SUCCESS
DMBT1	1755	.	GRCh37	10	124361447	124361447	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	29	0	ENST00000338354.3:c.3478T>C	p.Cys1160Arg	p.C1160R	ENST00000338354		1160	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS44490.1	3478	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTTGCAGG	NONE	.	.	Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_patterns:PS00420,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	.	.	ENSP00000357905	.	29/53	.	.	.	.	.	.	.	.	.	29/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Cys661Arg,ENST00000368956,;DMBT1,missense_variant,p.Cys661Arg,ENST00000330163,;DMBT1,missense_variant,p.Cys1150Arg,ENST00000344338,;DMBT1,missense_variant,p.Cys1150Arg,ENST00000368955,;DMBT1,missense_variant,p.Cys1160Arg,ENST00000368909,;DMBT1,missense_variant,p.Cys1160Arg,ENST00000338354,;DMBT1,intron_variant,,ENST00000359586,;	3584	29	19	SUCCESS
BNIP3	664	.	GRCh37	10	133787338	133787338	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	57	0	ENST00000368636.4:c.156T>A	p.His52Gln	p.H52Q	ENST00000368636	NM_004052.2	52	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS7663.1	156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCATGCTG	NONE	.	.	hmmpanther:PTHR15186:SF4,hmmpanther:PTHR15186,Pfam_domain:PF06553	.	.	ENSP00000357625	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000368636	Transcript	.	.	ENSG00000176171	1084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.609)	.	deleterious(0.01)	.	BNIP3_HUMAN	BNIP3	HGNC	Q6NVY4_HUMAN,Q66K24_HUMAN,B4DHJ7_HUMAN	.	UPI00001301A0	SNV	BNIP3,missense_variant,p.His52Gln,ENST00000368636,;BNIP3,missense_variant,p.His52Gln,ENST00000540159,;	281	57	34	SUCCESS
ITGA8	8516	.	GRCh37	10	15688879	15688879	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	76	0	ENST00000378076.3:c.1173A>C	p.Ala391=	p.A391=	ENST00000378076	NM_003638.1	391	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS31155.1	1173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTGCCAT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000367316	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000378076	Transcript	1	.	ENSG00000077943	6144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA8_HUMAN	ITGA8	HGNC	.	.	UPI00001D80A0	SNV	ITGA8,synonymous_variant,p.%3D,ENST00000378076,;ITGA8,upstream_gene_variant,,ENST00000468882,;	1527	76	70	SUCCESS
MALRD1	340895	.	GRCh37	10	19787476	19787476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	52	126	0	ENST00000454679.2:c.3319G>T	p.Ala1107Ser	p.A1107S	ENST00000454679		1107	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	3358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGCCTGC	NONE	.	.	Prints_domain:PR00020,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,PROSITE_profiles:PS50060	.	.	ENSP00000366477	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000377266	Transcript	.	.	ENSG00000204740	24331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.43)	.	.	MALRD1	HGNC	U5GXS0_HUMAN	.	UPI000191551D	SNV	MALRD1,missense_variant,p.Ala92Ser,ENST00000377265,;MALRD1,missense_variant,p.Ala1107Ser,ENST00000454679,;MALRD1,missense_variant,p.Ala1120Ser,ENST00000377266,;MALRD1,5_prime_UTR_variant,,ENST00000455457,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;	3358	126	123	SUCCESS
TUBB8	347688	.	GRCh37	10	94664	94664	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	25	0	ENST00000309812.4:c.168T>A		p.X56_splice	ENST00000309812	NM_177987.2	56	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS7051.1	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCACCTGC	NONE	.	.	Prints_domain:PR01163,Prints_domain:PR01161,Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588	.	.	ENSP00000311042	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000309812	Transcript	.	.	ENSG00000173876	20773	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBB8_HUMAN	TUBB8	HGNC	F5H0I4_HUMAN	.	UPI000007238E	SNV	TUBB8,missense_variant,p.Val20Glu,ENST00000332708,;TUBB8,synonymous_variant,p.%3D,ENST00000309812,;TUBB8,splice_region_variant,,ENST00000447903,;TUBB8,splice_region_variant,,ENST00000413237,;TUBB8,non_coding_transcript_exon_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;	231	26	30	SUCCESS
B3GAT1	27087	.	GRCh37	11	134252717	134252717	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	67	0	ENST00000312527.4:c.805A>C	p.Ser269Arg	p.S269R	ENST00000312527	NM_054025.2	269	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS8500.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTTCGCT	NONE	.	.	hmmpanther:PTHR10896,hmmpanther:PTHR10896:SF21,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448	.	.	ENSP00000433847	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000524765	Transcript	.	.	ENSG00000109956	921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.742)	.	deleterious(0.04)	.	B3GA1_HUMAN	B3GAT1	HGNC	Q8ND18_HUMAN	.	UPI0000073281	SNV	B3GAT1,missense_variant,p.Ser269Arg,ENST00000524765,;B3GAT1,missense_variant,p.Ser282Arg,ENST00000537389,;B3GAT1,missense_variant,p.Ser269Arg,ENST00000312527,;B3GAT1,missense_variant,p.Ser269Arg,ENST00000392580,;GLB1L2,downstream_gene_variant,,ENST00000389881,;GLB1L2,downstream_gene_variant,,ENST00000529077,;B3GAT1,downstream_gene_variant,,ENST00000531510,;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531778,;	5350	67	69	SUCCESS
USH1C	10083	.	GRCh37	11	17544442	17544442	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs397517884	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	59	0	ENST00000318024.4:c.908G>T	p.Arg303Leu	p.R303L	ENST00000318024	NM_005709.3	303	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7825.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	CCAGCCGCTCC	NONE	.	.	hmmpanther:PTHR23116:SF32,hmmpanther:PTHR23116,Low_complexity_(Seg):seg	.	.	ENSP00000005226	.	12/27	.	.	.	.	.	.	.	.	rs397517884	12/27	PASS	ENST00000005226	Transcript	.	.	ENSG00000006611	12597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.758)	.	deleterious(0)	.	USH1C_HUMAN	USH1C	HGNC	.	.	UPI00001D965A	SNV	USH1C,missense_variant,p.Arg303Leu,ENST00000005226,;USH1C,missense_variant,p.Arg272Leu,ENST00000527720,;USH1C,missense_variant,p.Arg303Leu,ENST00000318024,;USH1C,missense_variant,p.Arg314Leu,ENST00000526181,;USH1C,missense_variant,p.Arg284Leu,ENST00000527020,;USH1C,upstream_gene_variant,,ENST00000530700,;USH1C,missense_variant,p.Arg303Leu,ENST00000526313,;	908	59	61	SUCCESS
WT1	7490	.	GRCh37	11	32414292	32414292	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	83	0	ENST00000332351.3:c.1259C>G	p.Pro420Arg	p.P420R	ENST00000332351	NM_024426.4	420	cCa/cGa	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS7878.2	1259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATGGTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	.	.	ENSP00000331327	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000332351	Transcript	.	.	ENSG00000184937	12796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	.	WT1	HGNC	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN	.	UPI0000D625D7	SNV	WT1,missense_variant,p.Pro420Arg,ENST00000332351,;WT1,missense_variant,p.Pro420Arg,ENST00000448076,;WT1,missense_variant,p.Pro403Arg,ENST00000452863,;WT1,missense_variant,p.Pro208Arg,ENST00000379079,;WT1,missense_variant,p.Pro191Arg,ENST00000530998,;WT1,intron_variant,,ENST00000527882,;WT1,downstream_gene_variant,,ENST00000527775,;WT1,downstream_gene_variant,,ENST00000526685,;WT1,3_prime_UTR_variant,,ENST00000379077,;	1544	83	78	SUCCESS
OR51M1	390059	.	GRCh37	11	5410935	5410935	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	99	0	ENST00000328611.3:c.307A>T	p.Ser103Cys	p.S103C	ENST00000328611	NM_001004756.2	103	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS53596.1	307	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATAGTATC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF44,Pfam_domain:PF10320,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000333196	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328611	Transcript	.	.	ENSG00000184698	14847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.372)	.	deleterious(0)	.	O51M1_HUMAN	OR51M1	HGNC	.	.	UPI000066D8EB	SNV	OR51M1,missense_variant,p.Ser103Cys,ENST00000328611,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	329	99	62	SUCCESS
OR5L1	219437	.	GRCh37	11	55579638	55579638	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	87	0	ENST00000333973.2:c.696G>T	p.Glu232Asp	p.E232D	ENST00000333973	NM_001004738.1	232	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS31509.1	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGGCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	tolerated(0.06)	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Glu232Asp,ENST00000333973,;	785	87	79	SUCCESS
OR5T2	219464	.	GRCh37	11	56000068	56000068	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	52	135	0	ENST00000313264.4:c.594T>C	p.His198=	p.H198=	ENST00000313264	NM_001004746.1	198	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS31523.1	594	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTATGTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323688	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313264	Transcript	.	.	ENSG00000181718	15296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5T2_HUMAN	OR5T2	HGNC	.	.	UPI0000061E97	SNV	OR5T2,synonymous_variant,p.%3D,ENST00000313264,;	670	135	125	SUCCESS
MS4A2	2206	.	GRCh37	11	59861471	59861471	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	106	0	ENST00000278888.3:c.572T>A	p.Leu191Gln	p.L191Q	ENST00000278888	NM_000139.4	191	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS7980.1	572	RADIA|MUTECT|MUSE	.	CATTCTGGGAC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9	.	.	ENSP00000278888	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,missense_variant,p.Leu191Gln,ENST00000278888,;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	674	106	78	SUCCESS
MS4A2	2206	.	GRCh37	11	59861472	59861472	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	107	0	ENST00000278888.3:c.573G>T	p.Leu191=	p.L191=	ENST00000278888	NM_000139.4	191	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7980.1	573	RADIA|MUTECT|MUSE	.	ATTCTGGGACT	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9	.	.	ENSP00000278888	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,synonymous_variant,p.%3D,ENST00000278888,;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	675	107	77	SUCCESS
MS4A2	2206	.	GRCh37	11	59861474	59861474	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs747988240	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	106	0	ENST00000278888.3:c.575G>T	p.Gly192Val	p.G192V	ENST00000278888	NM_000139.4	192	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7980.1	575	RADIA|MUTECT|MUSE	.	TCTGGGACTTG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9	.	.	ENSP00000278888	.	6/7	.	.	.	.	.	.	.	.	rs747988240	6/7	PASS	ENST00000278888	Transcript	.	.	ENSG00000149534	7316	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.968)	.	deleterious(0.03)	.	FCERB_HUMAN	MS4A2	HGNC	E9PLJ1_HUMAN	.	UPI0000038E6F	SNV	MS4A2,missense_variant,p.Gly192Val,ENST00000278888,;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	677	106	76	SUCCESS
CNGA4	1262	.	GRCh37	11	6261787	6261787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759681883	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	56	0	ENST00000379936.2:c.763G>A	p.Val255Ile	p.V255I	ENST00000379936	NM_001037329.3	255	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS31408.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGTCATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF388,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000369268	.	4/6	.	.	.	.	.	.	.	.	rs759681883	4/6	PASS	ENST00000379936	Transcript	.	.	ENSG00000132259	2152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	CNGA4_HUMAN	CNGA4	HGNC	.	.	UPI000004C7EC	SNV	CNGA4,missense_variant,p.Val255Ile,ENST00000379936,;CNGA4,intron_variant,,ENST00000533426,;	878	56	68	SUCCESS
MYO7A	4647	.	GRCh37	11	76925722	76925722	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765073964	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	62	0	ENST00000409709.3:c.6629G>T	p.Gly2210Val	p.G2210V	ENST00000409709	NM_000260.3	2210	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS53683.1	6629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCTCCA	NONE	byFrequency	.	.	.	.	ENSP00000386331	.	49/49	.	.	.	.	.	.	.	.	rs765073964	49/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	deleterious(0.01)	.	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Gly1352Val,ENST00000458169,;MYO7A,missense_variant,p.Gly2161Val,ENST00000409619,;MYO7A,missense_variant,p.Gly2210Val,ENST00000409709,;MYO7A,missense_variant,p.Gly2170Val,ENST00000458637,;GDPD4,downstream_gene_variant,,ENST00000315938,;GDPD4,downstream_gene_variant,,ENST00000376217,;MYO7A,non_coding_transcript_exon_variant,,ENST00000605744,;GDPD4,downstream_gene_variant,,ENST00000532907,;MYO7A,downstream_gene_variant,,ENST00000526863,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,downstream_gene_variant,,ENST00000481532,;	6901	62	51	SUCCESS
PCF11	51585	.	GRCh37	11	82895887	82895887	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	60	0	ENST00000298281.4:c.4619C>T	p.Ala1540Val	p.A1540V	ENST00000298281	NM_015885.3	1540	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44689.1	4619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGCAACAC	NONE	.	.	hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921	.	.	ENSP00000298281	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000298281	Transcript	.	.	ENSG00000165494	30097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.39)	.	PCF11_HUMAN	PCF11	HGNC	E9PKN0_HUMAN	.	UPI00001BB2B7	SNV	PCF11,missense_variant,p.Ala1540Val,ENST00000298281,;PCF11,downstream_gene_variant,,ENST00000530906,;RP11-727A23.5,non_coding_transcript_exon_variant,,ENST00000602381,;RP11-727A23.11,downstream_gene_variant,,ENST00000602322,;RP11-727A23.4,downstream_gene_variant,,ENST00000528133,;PCF11,downstream_gene_variant,,ENST00000528336,;	5071	60	64	SUCCESS
APPL2	55198	.	GRCh37	12	105629887	105629887	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	11	0	ENST00000258530.3:c.-97C>T		p.*33*	ENST00000258530	NM_001251904.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58276.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCGGCGGC	NONE	.	26	.	.	.	ENSP00000446917	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000551662	Transcript	.	.	ENSG00000136044	18242	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DP13B_HUMAN	APPL2	HGNC	F8W124_HUMAN	.	UPI00020CE3BC	SNV	APPL2,5_prime_UTR_variant,,ENST00000258530,;APPL2,upstream_gene_variant,,ENST00000539978,;APPL2,upstream_gene_variant,,ENST00000553097,;APPL2,upstream_gene_variant,,ENST00000551662,;C12orf75,intron_variant,,ENST00000548458,;APPL2,5_prime_UTR_variant,,ENST00000547439,;APPL2,upstream_gene_variant,,ENST00000547809,;	.	11	15	SUCCESS
NUAK1	9891	.	GRCh37	12	106532406	106532406	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	16	22	0	ENST00000261402.2:c.26C>A	p.Ala9Glu	p.A9E	ENST00000261402	NM_014840.2	9	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS31892.1	26	MUTECT|MUSE	.	CCCCCGCCACA	NONE	.	.	hmmpanther:PTHR24343:SF79,hmmpanther:PTHR24343	.	.	ENSP00000261402	.	1/7	.	.	.	.	.	.	.	.	COSM1239649,COSM1239648	1/7	PASS	ENST00000261402	Transcript	.	.	ENSG00000074590	14311	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.001)	.	tolerated_low_confidence(1)	1,1	NUAK1_HUMAN	NUAK1	HGNC	F8VZ96_HUMAN,F8VXF0_HUMAN,F8VSH4_HUMAN	.	UPI00000403BC	SNV	NUAK1,missense_variant,p.Ala9Glu,ENST00000261402,;	1406	22	22	SUCCESS
SH2B3	10019	.	GRCh37	12	111884917	111884929	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTTCTCCAGCAGG	CTTCTCCAGCAGG	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	CTTCTCCAGCAGG	CTTCTCCAGCAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	46	0	ENST00000341259.2:c.927-10_929del		p.X309_splice	ENST00000341259	NM_005475.2	309		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9153.1	?-927	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCCTCTTCTCCAGCAGGCTGGA	NONE	.	.	.	.	.	ENSP00000345492	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000341259	Transcript	.	.	ENSG00000111252	29605	2	.	HIGH	4/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SH2B3_HUMAN	SH2B3	HGNC	.	.	UPI000012E798	deletion	SH2B3,splice_acceptor_variant,,ENST00000341259,;SH2B3,splice_acceptor_variant,,ENST00000538307,;SH2B3,downstream_gene_variant,,ENST00000550925,;	?-1284	46	39	SUCCESS
RIMBP2	23504	.	GRCh37	12	130929724	130929724	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	22	51	0	ENST00000261655.4:c.621T>A	p.Asp207Glu	p.D207E	ENST00000261655	NM_015347.4	207	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS31925.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCATCCAT	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000261655	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000261655	Transcript	.	.	ENSG00000060709	30339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RIMB2_HUMAN	RIMBP2	HGNC	F5H3X3_HUMAN	.	UPI00001C1F42	SNV	RIMBP2,missense_variant,p.Asp115Glu,ENST00000536002,;RIMBP2,missense_variant,p.Asp207Glu,ENST00000261655,;RIMBP2,missense_variant,p.Asp115Glu,ENST00000535703,;	785	51	29	SUCCESS
EMP1	2012	.	GRCh37	12	13366481	13366481	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	68	276	0	ENST00000256951.5:c.147C>A	p.Cys49Ter	p.C49*	ENST00000256951	NM_001423.2	49	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS8660.1	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCAGTGA	NONE	.	.	hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF6,Pfam_domain:PF00822	.	.	ENSP00000256951	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000256951	Transcript	.	.	ENSG00000134531	3333	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMP1_HUMAN	EMP1	HGNC	J3KQX4_HUMAN	.	UPI000000DBC8	SNV	EMP1,stop_gained,p.Cys49Ter,ENST00000538364,;EMP1,stop_gained,p.Cys49Ter,ENST00000537612,;EMP1,stop_gained,p.Cys49Ter,ENST00000396301,;EMP1,stop_gained,p.Cys49Ter,ENST00000256951,;EMP1,5_prime_UTR_variant,,ENST00000544053,;EMP1,intron_variant,,ENST00000431267,;EMP1,downstream_gene_variant,,ENST00000542474,;EMP1,intron_variant,,ENST00000542289,;EMP1,downstream_gene_variant,,ENST00000535134,;EMP1,non_coding_transcript_exon_variant,,ENST00000546357,;EMP1,non_coding_transcript_exon_variant,,ENST00000536383,;EMP1,downstream_gene_variant,,ENST00000541935,;	346	276	246	SUCCESS
PYROXD1	79912	.	GRCh37	12	21609022	21609022	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	147	0	ENST00000240651.9:c.743C>A	p.Thr248Lys	p.T248K	ENST00000240651	NM_024854.3	248	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS31755.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACAAAAG	NONE	.	.	hmmpanther:PTHR22912:SF98,hmmpanther:PTHR22912,Pfam_domain:PF07992	.	.	ENSP00000240651	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000240651	Transcript	.	.	ENSG00000121350	26162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.43)	.	PYRD1_HUMAN	PYROXD1	HGNC	B5MDP1_HUMAN,B3KWN8_HUMAN	.	UPI000006CE59	SNV	PYROXD1,missense_variant,p.Thr248Lys,ENST00000240651,;PYROXD1,missense_variant,p.Thr177Lys,ENST00000538582,;PYROXD1,3_prime_UTR_variant,,ENST00000545178,;PYROXD1,missense_variant,p.Thr49Lys,ENST00000544187,;PYROXD1,3_prime_UTR_variant,,ENST00000543476,;PYROXD1,3_prime_UTR_variant,,ENST00000375266,;PYROXD1,3_prime_UTR_variant,,ENST00000544970,;PYROXD1,upstream_gene_variant,,ENST00000536851,;PYROXD1,downstream_gene_variant,,ENST00000538072,;	797	148	100	SUCCESS
SLC6A13	6540	.	GRCh37	12	335639	335639	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs763147790	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	40	0	ENST00000343164.4:c.977T>G	p.Phe326Cys	p.F326C	ENST00000343164	NM_016615.4	326	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS8502.1	977	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAAAGCTG	NONE	.	.	Prints_domain:PR00176,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF111,hmmpanther:PTHR11616,PROSITE_profiles:PS50267,Transmembrane_helices:TMhelix	.	.	ENSP00000339260	.	9/15	.	.	.	.	.	.	.	.	rs763147790	9/15	PASS	ENST00000343164	Transcript	.	.	ENSG00000010379	11046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	S6A13_HUMAN	SLC6A13	HGNC	.	.	UPI0000046060	SNV	SLC6A13,missense_variant,p.Phe234Cys,ENST00000445055,;SLC6A13,missense_variant,p.Phe326Cys,ENST00000343164,;SLC6A13,intron_variant,,ENST00000542379,;SLC6A13,upstream_gene_variant,,ENST00000539668,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000543722,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000542947,;	1030	40	26	SUCCESS
IRAK4	51135	.	GRCh37	12	44165082	44165082	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	133	0	ENST00000551736.1:c.221G>T	p.Trp74Leu	p.W74L	ENST00000551736	NM_001114182.2	74	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS8744.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTGGGGCA	NONE	.	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF0,Gene3D:1.10.533.10,PIRSF_domain:PIRSF038189,Superfamily_domains:SSF47986	.	.	ENSP00000390651	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000448290	Transcript	.	.	ENSG00000198001	17967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRAK4_HUMAN	IRAK4	HGNC	Q69FE3_HUMAN,F8VW24_HUMAN,F8VR40_HUMAN	.	UPI000004ABE6	SNV	IRAK4,missense_variant,p.Trp74Leu,ENST00000448290,;IRAK4,missense_variant,p.Trp74Leu,ENST00000550616,;IRAK4,missense_variant,p.Trp74Leu,ENST00000551736,;IRAK4,intron_variant,,ENST00000440781,;IRAK4,intron_variant,,ENST00000431837,;IRAK4,3_prime_UTR_variant,,ENST00000547101,;IRAK4,3_prime_UTR_variant,,ENST00000550386,;IRAK4,intron_variant,,ENST00000550361,;IRAK4,intron_variant,,ENST00000552309,;IRAK4,intron_variant,,ENST00000547521,;IRAK4,intron_variant,,ENST00000550615,;IRAK4,downstream_gene_variant,,ENST00000546780,;IRAK4,upstream_gene_variant,,ENST00000547928,;	292	133	109	SUCCESS
IRAK4	51135	.	GRCh37	12	44165083	44165083	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	131	0	ENST00000551736.1:c.222G>T	p.Trp74Cys	p.W74C	ENST00000551736	NM_001114182.2	74	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS8744.1	222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGGGGCAC	NONE	.	.	hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF0,Gene3D:1.10.533.10,PIRSF_domain:PIRSF038189,Superfamily_domains:SSF47986	.	.	ENSP00000390651	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000448290	Transcript	.	.	ENSG00000198001	17967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IRAK4_HUMAN	IRAK4	HGNC	Q69FE3_HUMAN,F8VW24_HUMAN,F8VR40_HUMAN	.	UPI000004ABE6	SNV	IRAK4,missense_variant,p.Trp74Cys,ENST00000448290,;IRAK4,missense_variant,p.Trp74Cys,ENST00000550616,;IRAK4,missense_variant,p.Trp74Cys,ENST00000551736,;IRAK4,intron_variant,,ENST00000440781,;IRAK4,intron_variant,,ENST00000431837,;IRAK4,3_prime_UTR_variant,,ENST00000547101,;IRAK4,3_prime_UTR_variant,,ENST00000550386,;IRAK4,intron_variant,,ENST00000550361,;IRAK4,intron_variant,,ENST00000552309,;IRAK4,intron_variant,,ENST00000547521,;IRAK4,intron_variant,,ENST00000550615,;IRAK4,downstream_gene_variant,,ENST00000546780,;IRAK4,upstream_gene_variant,,ENST00000547928,;	293	132	109	SUCCESS
EIF4B	1975	.	GRCh37	12	53433732	53433732	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	21	0	ENST00000262056.9:c.1756-195A>G		p.*586*	ENST00000262056	NM_001417.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41788.1	.	MUTECT|MUSE	.	GTGGTATGAGA	NONE	.	.	.	.	.	ENSP00000262056	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262056	Transcript	.	.	ENSG00000063046	3285	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IF4B_HUMAN	EIF4B	HGNC	.	.	UPI000006F988	SNV	EIF4B,intron_variant,,ENST00000416762,;EIF4B,intron_variant,,ENST00000420463,;EIF4B,intron_variant,,ENST00000262056,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000550601,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000546566,;RP11-983P16.4,intron_variant,,ENST00000552905,;RP11-983P16.4,downstream_gene_variant,,ENST00000607643,;RP11-983P16.4,downstream_gene_variant,,ENST00000546793,;RP11-983P16.4,downstream_gene_variant,,ENST00000546767,;EIF4B,intron_variant,,ENST00000549592,;EIF4B,downstream_gene_variant,,ENST00000553209,;EIF4B,downstream_gene_variant,,ENST00000550704,;	.	21	16	SUCCESS
STAC3	246329	.	GRCh37	12	57640644	57640644	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	109	0	ENST00000332782.2:c.546C>T	p.Arg182=	p.R182=	ENST00000332782	NM_145064.1	182	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8936.1	546	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGCGCAG	NONE	.	.	hmmpanther:PTHR15135:SF2,hmmpanther:PTHR15135	.	.	ENSP00000329200	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000332782	Transcript	.	.	ENSG00000185482	28423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAC3_HUMAN	STAC3	HGNC	G3V5D4_HUMAN,B4DUK9_HUMAN	.	UPI000006E4D3	SNV	STAC3,synonymous_variant,p.%3D,ENST00000332782,;STAC3,synonymous_variant,p.%3D,ENST00000554578,;STAC3,5_prime_UTR_variant,,ENST00000546246,;R3HDM2,downstream_gene_variant,,ENST00000413953,;STAC3,downstream_gene_variant,,ENST00000553489,;STAC3,5_prime_UTR_variant,,ENST00000557176,;STAC3,non_coding_transcript_exon_variant,,ENST00000554003,;STAC3,downstream_gene_variant,,ENST00000553294,;RP11-123K3.4,downstream_gene_variant,,ENST00000548184,;	748	109	111	SUCCESS
METTL21B	0	.	GRCh37	12	58166537	58166537	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	44	0	ENST00000300209.8:c.30T>A	p.Ser10=	p.S10=	ENST00000300209	NM_015433.2	10	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS8957.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCTGAGTC	NONE	.	.	hmmpanther:PTHR14614:SF5,hmmpanther:PTHR14614	.	.	ENSP00000300209	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000300209	Transcript	.	.	ENSG00000123427	24936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT21B_HUMAN	METTL21B	HGNC	F8W226_HUMAN	.	UPI000006CEB5	SNV	METTL21B,synonymous_variant,p.%3D,ENST00000300209,;METTL21B,synonymous_variant,p.%3D,ENST00000333012,;METTL1,5_prime_UTR_variant,,ENST00000324871,;METTL21B,intron_variant,,ENST00000551420,;METTL21B,intron_variant,,ENST00000548256,;METTL1,upstream_gene_variant,,ENST00000548504,;RP11-571M6.15,upstream_gene_variant,,ENST00000546504,;METTL1,upstream_gene_variant,,ENST00000547653,;CYP27B1,upstream_gene_variant,,ENST00000546609,;METTL1,upstream_gene_variant,,ENST00000257848,;AC025165.1,downstream_gene_variant,,ENST00000582738,;METTL21B,non_coding_transcript_exon_variant,,ENST00000552307,;METTL1,upstream_gene_variant,,ENST00000548681,;RP11-571M6.15,upstream_gene_variant,,ENST00000553083,;RP11-571M6.15,upstream_gene_variant,,ENST00000471530,;METTL1,upstream_gene_variant,,ENST00000551117,;METTL1,upstream_gene_variant,,ENST00000553125,;METTL1,upstream_gene_variant,,ENST00000549773,;	155	44	66	SUCCESS
PTPRR	5801	.	GRCh37	12	71054875	71054875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	78	0	ENST00000283228.2:c.1611A>C	p.Gln537His	p.Q537H	ENST00000283228	NM_002849.3	537	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS8998.1	1611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTTGCTG	BUFFER|p.T541A|c.1621A>G|3	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799	.	.	ENSP00000283228	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000283228	Transcript	.	.	ENSG00000153233	9680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	PTPRR_HUMAN	PTPRR	HGNC	Q68CP6_HUMAN,F8VVE9_HUMAN	.	UPI000013DD2F	SNV	PTPRR,missense_variant,p.Gln425His,ENST00000342084,;PTPRR,missense_variant,p.Gln292His,ENST00000440835,;PTPRR,missense_variant,p.Gln331His,ENST00000378778,;PTPRR,missense_variant,p.Gln537His,ENST00000283228,;PTPRR,missense_variant,p.Gln292His,ENST00000549308,;PTPRR,splice_region_variant,,ENST00000549107,;PTPRR,splice_region_variant,,ENST00000537619,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,non_coding_transcript_exon_variant,,ENST00000547752,;PTPRR,splice_region_variant,,ENST00000551219,;	2064	78	56	SUCCESS
SLC6A15	55117	.	GRCh37	12	85285987	85285987	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	61	0	ENST00000266682.5:c.-88C>A		p.*30*	ENST00000266682	NM_182767.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9026.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTGATAGG	NONE	.	.	.	.	.	ENSP00000266682	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,5_prime_UTR_variant,,ENST00000551010,;SLC6A15,5_prime_UTR_variant,,ENST00000549540,;SLC6A15,5_prime_UTR_variant,,ENST00000450363,;SLC6A15,5_prime_UTR_variant,,ENST00000266682,;SLC6A15,intron_variant,,ENST00000552192,;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,intron_variant,,ENST00000547240,;	455	61	54	SUCCESS
ANKS1B	56899	.	GRCh37	12	99640465	99640465	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs766358318	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	68	197	0	ENST00000547776.2:c.1934C>G	p.Pro645Arg	p.P645R	ENST00000547776	NM_152788.4	645	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS55872.1	1934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGGACTG	NONE	byFrequency	.	hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3	.	.	ENSP00000449629	.	13/26	.	.	.	.	.	.	.	.	rs766358318	13/26	PASS	ENST00000547776	Transcript	.	.	ENSG00000185046	24600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.02)	.	ANS1B_HUMAN	ANKS1B	HGNC	R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN	.	UPI00003FE521	SNV	ANKS1B,missense_variant,p.Pro645Arg,ENST00000329257,;ANKS1B,missense_variant,p.Pro225Arg,ENST00000547010,;ANKS1B,missense_variant,p.Pro645Arg,ENST00000547776,;ANKS1B,downstream_gene_variant,,ENST00000549866,;ANKS1B,upstream_gene_variant,,ENST00000550778,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550833,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000546631,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550157,;	1934	197	172	SUCCESS
ZMYM2	7750	.	GRCh37	13	20657109	20657109	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	89	239	0	ENST00000382871.2:c.3757A>G	p.Thr1253Ala	p.T1253A	ENST00000382871		1253	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS45016.1	3757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTAACGATG	NONE	.	.	hmmpanther:PTHR11697:SF73,hmmpanther:PTHR11697,Pfam_domain:PF12012	.	.	ENSP00000372322	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000382869	Transcript	.	.	ENSG00000121741	12989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.17)	.	ZMYM2_HUMAN	ZMYM2	HGNC	.	.	UPI000013C318	SNV	ZMYM2,missense_variant,p.Thr1253Ala,ENST00000382869,;ZMYM2,missense_variant,p.Thr1253Ala,ENST00000382871,;ZMYM2,missense_variant,p.Thr1253Ala,ENST00000382874,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000494061,;ZMYM2,upstream_gene_variant,,ENST00000490422,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000382870,;	4008	239	205	SUCCESS
ATP8A2	51761	.	GRCh37	13	26043153	26043153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	45	1	ENST00000381655.2:c.115G>T	p.Asp39Tyr	p.D39Y	ENST00000381655	NM_016529.4	39	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS41873.1	115	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGATGAG	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092	.	.	ENSP00000371070	.	2/37	.	.	.	.	.	.	.	.	.	2/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Asp39Tyr,ENST00000381655,;ATP8A2,5_prime_UTR_variant,,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000381648,;ATP8A2,5_prime_UTR_variant,,ENST00000281620,;	257	46	58	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679220	37679220	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	49	0	ENST00000379800.3:c.174G>C	p.Leu58=	p.L58=	ENST00000379800	NM_145203.5	58	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS9363.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATACAGCAA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,synonymous_variant,p.%3D,ENST00000379800,;	584	49	46	SUCCESS
EDNRB	1910	.	GRCh37	13	78477336	78477336	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	123	0	ENST00000334286.5:c.756G>C	p.Leu252=	p.L252=	ENST00000334286	NM_001122659.2	252	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS55902.1	1026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCGCAGATA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000366416	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,synonymous_variant,p.%3D,ENST00000446573,;EDNRB,synonymous_variant,p.%3D,ENST00000377211,;EDNRB,synonymous_variant,p.%3D,ENST00000334286,;	1179	123	78	SUCCESS
POTEG	404785	.	GRCh37	14	19553734	19553734	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	rs746550954	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	346	65	470	0	ENST00000547889.1:c.318C>A	p.Phe106Leu	p.F106L	ENST00000547889		106	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS32018.1	318	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCCCCTG	NONE	.	.	hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118	.	.	ENSP00000386971	.	1/11	.	.	.	.	.	.	.	.	rs746550954,COSM3494331	1/11	PASS	ENST00000409832	Transcript	.	.	ENSG00000222036	33896	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.005)	.	tolerated_low_confidence(0.09)	0,1	POTEG_HUMAN	POTEG	HGNC	.	.	UPI00004443FE	SNV	POTEG,missense_variant,p.Phe106Leu,ENST00000409832,;POTEG,missense_variant,p.Phe106Leu,ENST00000552966,;POTEG,missense_variant,p.Phe106Leu,ENST00000547889,;	370	470	411	SUCCESS
OR4Q3	441669	.	GRCh37	14	20215690	20215690	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	59	321	0	ENST00000331723.1:c.104A>C	p.Tyr35Ser	p.Y35S	ENST00000331723	NM_172194.1	35	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS32020.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTACATTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330049	.	1/1	.	.	.	.	.	.	.	.	COSM1493227	1/1	PASS	ENST00000331723	Transcript	.	.	ENSG00000182652	15426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.796)	.	deleterious(0)	1	OR4Q3_HUMAN	OR4Q3	HGNC	.	.	UPI0000061EF0	SNV	OR4Q3,missense_variant,p.Tyr35Ser,ENST00000331723,;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	104	321	287	SUCCESS
OR4Q3	441669	.	GRCh37	14	20216358	20216358	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781370320	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	18	174	0	ENST00000331723.1:c.772A>T	p.Ile258Phe	p.I258F	ENST00000331723	NM_172194.1	258	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS32020.1	772	RADIA|MUTECT|MUSE|VARSCANS	.	TATTCATCTAT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000330049	.	1/1	.	.	.	.	.	.	.	.	rs781370320	1/1	PASS	ENST00000331723	Transcript	.	.	ENSG00000182652	15426	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.857)	.	deleterious(0.02)	.	OR4Q3_HUMAN	OR4Q3	HGNC	.	.	UPI0000061EF0	SNV	OR4Q3,missense_variant,p.Ile258Phe,ENST00000331723,;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	772	174	154	SUCCESS
APEX1	328	.	GRCh37	14	20925548	20925548	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	48	163	0	ENST00000216714.3:c.838T>A	p.Trp280Arg	p.W280R	ENST00000216714	NM_001244249.1	280	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS9550.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTTGGCGC	NONE	.	.	Superfamily_domains:SSF56219,TIGRFAM_domain:TIGR00195,Gene3D:3.60.10.10,Pfam_domain:PF03372,TIGRFAM_domain:TIGR00633,PROSITE_patterns:PS00728,hmmpanther:PTHR22748,PROSITE_profiles:PS51435	.	.	ENSP00000216714	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000216714	Transcript	.	.	ENSG00000100823	587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	APEX1_HUMAN	APEX1	HGNC	Q5TZP7_HUMAN,G3V5D9_HUMAN,G3V3M6_HUMAN,G3V3C7_HUMAN	.	UPI000000CBFE	SNV	APEX1,missense_variant,p.Trp280Arg,ENST00000398030,;APEX1,missense_variant,p.Trp280Arg,ENST00000555414,;APEX1,missense_variant,p.Trp280Arg,ENST00000216714,;APEX1,3_prime_UTR_variant,,ENST00000557054,;APEX1,downstream_gene_variant,,ENST00000438886,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000553368,;OSGEP,upstream_gene_variant,,ENST00000555223,;OSGEP,upstream_gene_variant,,ENST00000206542,;TMEM55B,downstream_gene_variant,,ENST00000554028,;TMEM55B,downstream_gene_variant,,ENST00000398020,;APEX1,downstream_gene_variant,,ENST00000553681,;APEX1,downstream_gene_variant,,ENST00000555839,;TMEM55B,downstream_gene_variant,,ENST00000553460,;APEX1,downstream_gene_variant,,ENST00000557181,;OSGEP,upstream_gene_variant,,ENST00000488532,;TMEM55B,downstream_gene_variant,,ENST00000556093,;TMEM55B,downstream_gene_variant,,ENST00000250489,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;OSGEP,upstream_gene_variant,,ENST00000556252,;APEX1,downstream_gene_variant,,ENST00000556296,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000557365,;APEX1,downstream_gene_variant,,ENST00000554813,;APEX1,non_coding_transcript_exon_variant,,ENST00000553555,;APEX1,non_coding_transcript_exon_variant,,ENST00000557159,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;TMEM55B,downstream_gene_variant,,ENST00000557041,;TMEM55B,downstream_gene_variant,,ENST00000553602,;APEX1,downstream_gene_variant,,ENST00000554325,;	1106	163	145	SUCCESS
TOX4	9878	.	GRCh37	14	21955859	21955859	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	55	0	ENST00000448790.2:c.249+7G>A		p.X83_splice	ENST00000448790		83		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32043.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGGGCAAG	NONE	.	.	.	.	.	ENSP00000385102	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405508	Transcript	.	.	ENSG00000092203	20161	.	.	LOW	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOX4_HUMAN	TOX4	HGNC	.	.	UPI000006EA81	SNV	TOX4,splice_region_variant,,ENST00000457430,;TOX4,splice_region_variant,,ENST00000405508,;TOX4,splice_region_variant,,ENST00000416256,;TOX4,splice_region_variant,,ENST00000448790,;TOX4,splice_region_variant,,ENST00000262709,;TOX4,non_coding_transcript_exon_variant,,ENST00000494242,;TOX4,splice_region_variant,,ENST00000455138,;TOX4,splice_region_variant,,ENST00000447695,;TOX4,non_coding_transcript_exon_variant,,ENST00000476180,;TOX4,intron_variant,,ENST00000455393,;TOX4,upstream_gene_variant,,ENST00000463119,;TOX4,upstream_gene_variant,,ENST00000473176,;TOX4,downstream_gene_variant,,ENST00000487242,;	.	55	39	SUCCESS
RIPK3	11035	.	GRCh37	14	24807239	24807239	+	synonymous_variant	Silent	SNP	G	G	T	rs781220787	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	72	0	ENST00000216274.5:c.672C>A	p.Thr224=	p.T224=	ENST00000216274	NM_006871.3	224	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9628.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGGTTGG	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF346,hmmpanther:PTHR23257,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000216274	.	6/10	.	.	.	.	.	.	.	.	rs781220787	6/10	PASS	ENST00000216274	Transcript	.	.	ENSG00000129465	10021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIPK3_HUMAN	RIPK3	HGNC	.	.	UPI00000369E2	SNV	RIPK3,synonymous_variant,p.%3D,ENST00000216274,;ADCY4,upstream_gene_variant,,ENST00000396747,;RIPK3,upstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000559167,;ADCY4,upstream_gene_variant,,ENST00000310677,;RP11-934B9.3,upstream_gene_variant,,ENST00000555591,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,3_prime_UTR_variant,,ENST00000554756,;RIPK3,downstream_gene_variant,,ENST00000557253,;RIPK3,downstream_gene_variant,,ENST00000557662,;RIPK3,downstream_gene_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;	891	72	73	SUCCESS
JKAMP	51528	.	GRCh37	14	59961929	59961929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	65	192	0	ENST00000261247.9:c.445G>T	p.Ala149Ser	p.A149S	ENST00000261247	NM_001098625.1	149	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45116.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGCCGTC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF05571,hmmpanther:PTHR12740,hmmpanther:PTHR12740:SF3	.	.	ENSP00000261247	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000261247	Transcript	.	.	ENSG00000050130	20184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	JKAMP_HUMAN	JKAMP	HGNC	G3V372_HUMAN	.	UPI00000377AB	SNV	JKAMP,missense_variant,p.Ala149Ser,ENST00000556985,;JKAMP,missense_variant,p.Ala143Ser,ENST00000425728,;JKAMP,missense_variant,p.Ala149Ser,ENST00000261247,;JKAMP,missense_variant,p.Ala157Ser,ENST00000356057,;JKAMP,missense_variant,p.Ala163Ser,ENST00000554271,;JKAMP,missense_variant,p.Ala157Ser,ENST00000554795,;JKAMP,non_coding_transcript_exon_variant,,ENST00000554754,;RP11-701B16.2,intron_variant,,ENST00000554253,;JKAMP,downstream_gene_variant,,ENST00000557560,;JKAMP,non_coding_transcript_exon_variant,,ENST00000553941,;JKAMP,non_coding_transcript_exon_variant,,ENST00000602482,;JKAMP,non_coding_transcript_exon_variant,,ENST00000554721,;JKAMP,intron_variant,,ENST00000555491,;	592	192	177	SUCCESS
BCL11B	64919	.	GRCh37	14	99640967	99640967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	12	0	ENST00000357195.3:c.2206C>A	p.Pro736Thr	p.P736T	ENST00000357195	NM_138576.2	736	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS9950.1	2206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGCGACT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0)	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,missense_variant,p.Pro542Thr,ENST00000443726,;BCL11B,missense_variant,p.Pro665Thr,ENST00000345514,;BCL11B,missense_variant,p.Pro736Thr,ENST00000357195,;	2216	12	31	SUCCESS
SEMA6D	80031	.	GRCh37	15	48063978	48063978	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs758537359	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	24	62	0	ENST00000316364.5:c.3218A>G	p.Tyr1073Cys	p.Y1073C	ENST00000316364	NM_153618.1	1073	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32225.1	3218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATACTAGG	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	19/19	.	.	.	.	.	.	.	.	rs758537359	19/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Tyr1030Cys,ENST00000389432,;SEMA6D,missense_variant,p.Tyr1011Cys,ENST00000537942,;SEMA6D,missense_variant,p.Tyr1011Cys,ENST00000358066,;SEMA6D,missense_variant,p.Tyr1017Cys,ENST00000354744,;SEMA6D,missense_variant,p.Tyr998Cys,ENST00000389428,;SEMA6D,missense_variant,p.Tyr1073Cys,ENST00000536845,;SEMA6D,missense_variant,p.Tyr1054Cys,ENST00000389433,;SEMA6D,missense_variant,p.Tyr1011Cys,ENST00000558014,;SEMA6D,missense_variant,p.Tyr1073Cys,ENST00000316364,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	3657	62	78	SUCCESS
CCDC33	80125	.	GRCh37	15	74560789	74560789	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	25	0	ENST00000398814.3:c.536T>C	p.Met179Thr	p.M179T	ENST00000398814	NM_025055.4	179	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS42058.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATGGCTC	NONE	.	.	hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF2	.	.	ENSP00000381795	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000398814	Transcript	.	.	ENSG00000140481	26552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CCD33_HUMAN	CCDC33	HGNC	.	.	UPI0000E671FE	SNV	CCDC33,missense_variant,p.Met382Thr,ENST00000321288,;CCDC33,missense_variant,p.Met60Thr,ENST00000558659,;CCDC33,missense_variant,p.Met179Thr,ENST00000398814,;	967	25	23	SUCCESS
ARID3B	10620	.	GRCh37	15	74836589	74836589	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	23	166	0	ENST00000346246.5:c.312T>C	p.Asp104=	p.D104=	ENST00000346246	NM_006465.2	104	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS10264.1	312	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGATGATGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF3	.	.	ENSP00000343126	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000346246	Transcript	.	.	ENSG00000179361	14350	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARI3B_HUMAN	ARID3B	HGNC	H3BQ92_HUMAN	.	UPI0000070441	SNV	ARID3B,synonymous_variant,p.%3D,ENST00000346246,;ARID3B,upstream_gene_variant,,ENST00000566147,;ARID3B,non_coding_transcript_exon_variant,,ENST00000569680,;	543	166	129	SUCCESS
SIN3A	25942	.	GRCh37	15	75705361	75705361	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1294780529	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	100	0	ENST00000360439.4:c.499C>T	p.Arg167Cys	p.R167C	ENST00000360439	NM_001145357.1	167	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS10279.1	499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGACTAA	NONE	.	.	PROSITE_profiles:PS51477,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2,Gene3D:1g1eB00,Pfam_domain:PF02671,Superfamily_domains:SSF47762	.	.	ENSP00000378402	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000394947	Transcript	.	.	ENSG00000169375	19353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SIN3A_HUMAN	SIN3A	HGNC	H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN	.	UPI000013EAD4	SNV	SIN3A,missense_variant,p.Arg167Cys,ENST00000394949,;SIN3A,missense_variant,p.Arg167Cys,ENST00000564778,;SIN3A,missense_variant,p.Arg167Cys,ENST00000394947,;SIN3A,missense_variant,p.Arg167Cys,ENST00000360439,;SIN3A,downstream_gene_variant,,ENST00000568431,;SIN3A,downstream_gene_variant,,ENST00000562776,;CTD-2562G15.2,upstream_gene_variant,,ENST00000569073,;	814	100	114	SUCCESS
MCTP2	55784	.	GRCh37	15	94945947	94945947	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	15	0	ENST00000357742.4:c.2085+699G>T		p.*695*	ENST00000357742	NM_018349.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32338.1	.	MUTECT|MUSE	.	TCCTTGATCAA	NONE	.	.	.	.	.	ENSP00000350377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODIFIER	16/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,3_prime_UTR_variant,,ENST00000557742,;MCTP2,intron_variant,,ENST00000357742,;MCTP2,intron_variant,,ENST00000451018,;MCTP2,downstream_gene_variant,,ENST00000331706,;MCTP2,intron_variant,,ENST00000456504,;MCTP2,downstream_gene_variant,,ENST00000557505,;	.	15	8	SUCCESS
CLEC16A	23274	.	GRCh37	16	11056338	11056338	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	92	0	ENST00000409790.1:c.236T>G	p.Val79Gly	p.V79G	ENST00000409790	NM_015226.2	79	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS45409.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGTTTTCT	NONE	.	.	hmmpanther:PTHR21481,Pfam_domain:PF09758	.	.	ENSP00000387122	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000409790	Transcript	.	.	ENSG00000038532	29013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.18)	.	CL16A_HUMAN	CLEC16A	HGNC	.	.	UPI0000253BAD	SNV	CLEC16A,missense_variant,p.Val79Gly,ENST00000409790,;CLEC16A,missense_variant,p.Val79Gly,ENST00000409552,;	466	92	89	SUCCESS
PTX4	390667	.	GRCh37	16	1537527	1537527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	31	67	0	ENST00000447419.2:c.586C>A	p.Pro196Thr	p.P196T	ENST00000447419		196	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32362.1	571	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGCTGGG	NONE	.	.	hmmpanther:PTHR19277:SF34,hmmpanther:PTHR19277	.	.	ENSP00000293922	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000293922	Transcript	.	.	ENSG00000251692	14171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.24)	.	PTX4_HUMAN	PTX4	HGNC	.	.	UPI000007334C	SNV	PTX4,missense_variant,p.Pro196Thr,ENST00000447419,;PTX4,missense_variant,p.Pro191Thr,ENST00000293922,;PTX4,intron_variant,,ENST00000440447,;	571	67	50	SUCCESS
SYT17	51760	.	GRCh37	16	19234475	19234475	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	84	0	ENST00000355377.2:c.1060A>T	p.Ser354Cys	p.S354C	ENST00000355377	NM_016524.2	354	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS10575.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGAGCCAA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF189,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000347538	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000355377	Transcript	.	.	ENSG00000103528	24119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.23)	.	SYT17_HUMAN	SYT17	HGNC	H3BSP0_HUMAN,H3BRH9_HUMAN,H3BMD4_HUMAN	.	UPI000007297F	SNV	SYT17,missense_variant,p.Ser293Cys,ENST00000562034,;SYT17,missense_variant,p.Ser48Cys,ENST00000568433,;SYT17,missense_variant,p.Ser350Cys,ENST00000562711,;SYT17,missense_variant,p.Ser293Cys,ENST00000568115,;SYT17,missense_variant,p.Ser354Cys,ENST00000355377,;SYT17,missense_variant,p.Ser119Cys,ENST00000565183,;	1458	84	86	SUCCESS
ACSM2A	123876	.	GRCh37	16	20476838	20476838	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	67	169	1	ENST00000219054.6:c.178-1G>A		p.X60_splice	ENST00000219054		60		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32401.1	.	RADIA|MUTECT|MUSE	.	CCTCAGGCTGG	NONE	.	.	.	.	.	ENSP00000459451	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000573854	Transcript	.	.	ENSG00000183747	32017	.	.	HIGH	2/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACS2A_HUMAN	ACSM2A	HGNC	I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN	.	UPI0000251E27	SNV	ACSM2A,splice_acceptor_variant,,ENST00000424070,;ACSM2A,splice_acceptor_variant,,ENST00000574251,;ACSM2A,splice_acceptor_variant,,ENST00000575690,;ACSM2A,splice_acceptor_variant,,ENST00000573854,;ACSM2A,splice_acceptor_variant,,ENST00000219054,;ACSM2A,splice_acceptor_variant,,ENST00000576361,;ACSM2A,splice_acceptor_variant,,ENST00000536134,;ACSM2A,splice_acceptor_variant,,ENST00000396104,;ACSM2A,splice_acceptor_variant,,ENST00000571894,;ACSM2A,splice_acceptor_variant,,ENST00000417235,;ACSM2A,splice_acceptor_variant,,ENST00000575558,;ACSM2A,splice_acceptor_variant,,ENST00000574692,;ACSM2A,splice_acceptor_variant,,ENST00000570698,;	.	170	178	SUCCESS
ERN2	10595	.	GRCh37	16	23703609	23703609	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	20	0	ENST00000256797.4:c.2288A>G	p.Tyr763Cys	p.Y763C	ENST00000256797	NM_033266.3	763	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS32407.1	2288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTAGTAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000256797	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Tyr663Cys,ENST00000457008,;ERN2,missense_variant,p.Tyr763Cys,ENST00000256797,;ERN2,intron_variant,,ENST00000562458,;PLK1,downstream_gene_variant,,ENST00000300093,;CTD-2196E14.5,upstream_gene_variant,,ENST00000566143,;PLK1,downstream_gene_variant,,ENST00000562407,;PLK1,downstream_gene_variant,,ENST00000564794,;PLK1,downstream_gene_variant,,ENST00000564947,;PLK1,downstream_gene_variant,,ENST00000562272,;ERN2,downstream_gene_variant,,ENST00000562562,;	2457	20	19	SUCCESS
PPP4C	5531	.	GRCh37	16	30095000	30095000	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	48	1	ENST00000279387.7:c.502T>C	p.Ser168Pro	p.S168P	ENST00000279387	NM_002720.1	168	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS10669.1	502	MUTECT|MUSE	.	GCCTCTCCCCC	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF22,Pfam_domain:PF00149,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114	.	.	ENSP00000279387	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000279387	Transcript	.	.	ENSG00000149923	9319	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PP4C_HUMAN	PPP4C	HGNC	.	.	UPI0000023591	SNV	PPP4C,missense_variant,p.Ser134Pro,ENST00000562222,;PPP4C,missense_variant,p.Ser168Pro,ENST00000279387,;PPP4C,missense_variant,p.Ser134Pro,ENST00000562664,;PPP4C,missense_variant,p.Ser168Pro,ENST00000561610,;TBX6,downstream_gene_variant,,ENST00000395224,;TBX6,downstream_gene_variant,,ENST00000279386,;TBX6,downstream_gene_variant,,ENST00000553607,;PPP4C,3_prime_UTR_variant,,ENST00000563732,;PPP4C,3_prime_UTR_variant,,ENST00000566749,;PPP4C,3_prime_UTR_variant,,ENST00000563597,;PPP4C,non_coding_transcript_exon_variant,,ENST00000567040,;PPP4C,non_coding_transcript_exon_variant,,ENST00000563200,;PPP4C,downstream_gene_variant,,ENST00000567828,;PPP4C,downstream_gene_variant,,ENST00000564966,;PPP4C,downstream_gene_variant,,ENST00000568810,;TBX6,downstream_gene_variant,,ENST00000567664,;PPP4C,downstream_gene_variant,,ENST00000567642,;	670	49	55	SUCCESS
GPR114	0	.	GRCh37	16	57604440	57604440	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	14	0	ENST00000340339.4:c.1201A>T	p.Met401Leu	p.M401L	ENST00000340339	NM_153837.1	401	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS10785.1	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACATGTCC	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF230,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR01422	.	.	ENSP00000342981	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000340339	Transcript	.	.	ENSG00000159618	19010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.21)	.	GP114_HUMAN	GPR114	HGNC	.	.	UPI0000039944	SNV	GPR114,missense_variant,p.Met401Leu,ENST00000340339,;GPR114,missense_variant,p.Met401Leu,ENST00000349457,;GPR114,intron_variant,,ENST00000394361,;GPR114,upstream_gene_variant,,ENST00000569839,;GPR114,non_coding_transcript_exon_variant,,ENST00000564607,;	1724	14	17	SUCCESS
PIGQ	9091	.	GRCh37	16	625870	625870	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs959172804	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	13	31	0	ENST00000026218.5:c.721G>A	p.Gly241Arg	p.G241R	ENST00000026218	NM_148920.2	241	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS10411.1	721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGGGAGC	NONE	.	.	hmmpanther:PTHR21329,hmmpanther:PTHR21329:SF3	.	.	ENSP00000026218	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000026218	Transcript	.	.	ENSG00000007541	14135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.38)	.	PIGQ_HUMAN	PIGQ	HGNC	J3QTH6_HUMAN,B8ZZC7_HUMAN,B8ZZ31_HUMAN,B8ZZ29_HUMAN	.	UPI000006CC88	SNV	PIGQ,missense_variant,p.Gly241Arg,ENST00000321878,;PIGQ,missense_variant,p.Gly241Arg,ENST00000409439,;PIGQ,missense_variant,p.Gly241Arg,ENST00000470411,;PIGQ,missense_variant,p.Gly241Arg,ENST00000026218,;PIGQ,missense_variant,p.Gly241Arg,ENST00000409527,;PIGQ,missense_variant,p.Gly241Arg,ENST00000422307,;PIGQ,downstream_gene_variant,,ENST00000293874,;PIGQ,downstream_gene_variant,,ENST00000439574,;PIGQ,upstream_gene_variant,,ENST00000540241,;PIGQ,upstream_gene_variant,,ENST00000544860,;PIGQ,missense_variant,p.Gly255Arg,ENST00000443147,;PIGQ,upstream_gene_variant,,ENST00000420990,;PIGQ,upstream_gene_variant,,ENST00000480424,;PIGQ,upstream_gene_variant,,ENST00000537901,;	809	31	17	SUCCESS
VAC14	55697	.	GRCh37	16	70778459	70778459	+	synonymous_variant	Silent	SNP	C	C	A	rs145571853	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	51	0	ENST00000261776.5:c.1395G>T	p.Val465=	p.V465=	ENST00000261776	NM_018052.3	465	gtG/gtT	0	T:0.0005	.	.	.	.	A	V	protein_coding	YES	CCDS10896.1	1395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCACCTC	NONE	byCluster	.	hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023,Superfamily_domains:SSF48371	.	T:0	ENSP00000261776	.	13/19	.	.	.	.	.	.	.	.	rs145571853	13/19	PASS	ENST00000261776	Transcript	.	.	ENSG00000103043	25507	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAC14_HUMAN	VAC14	HGNC	Q9NTB8_HUMAN,B3KSM8_HUMAN	.	UPI00001A832B	SNV	VAC14,synonymous_variant,p.%3D,ENST00000261776,;VAC14,synonymous_variant,p.%3D,ENST00000566416,;RP11-394B2.6,upstream_gene_variant,,ENST00000567186,;VAC14,non_coding_transcript_exon_variant,,ENST00000561879,;VAC14,3_prime_UTR_variant,,ENST00000568886,;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,non_coding_transcript_exon_variant,,ENST00000564685,;VAC14,non_coding_transcript_exon_variant,,ENST00000563662,;	1656	51	57	SUCCESS
HPR	3250	.	GRCh37	16	72108240	72108240	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	320	94	313	0	ENST00000540303.2:c.149del	p.Arg50ProfsTer20	p.R50Pfs*20	ENST00000540303	NM_020995.3	50	cGc/cc	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS42193.1	149	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTTCGCTACC	NONE	.	.	Superfamily_domains:SSF57535,PIRSF_domain:PIRSF001137,Gene3D:2.10.70.10,hmmpanther:PTHR24265:SF25,hmmpanther:PTHR24265	.	.	ENSP00000441828	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000540303	Transcript	.	.	ENSG00000261701	5156	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HPTR_HUMAN	HPR	HGNC	Q14552_HUMAN	.	UPI000034ECF8	deletion	HPR,frameshift_variant,p.Arg50ProfsTer20,ENST00000561690,;HPR,frameshift_variant,p.Arg87ProfsTer20,ENST00000228226,;HPR,frameshift_variant,p.Arg50ProfsTer20,ENST00000356967,;HPR,frameshift_variant,p.Arg50ProfsTer20,ENST00000540303,;TXNL4B,intron_variant,,ENST00000562153,;HPR,non_coding_transcript_exon_variant,,ENST00000566168,;	181	313	414	SUCCESS
TLDC1	0	.	GRCh37	16	84514214	84514214	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149378530	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	40	79	0	ENST00000343629.6:c.1178C>T	p.Pro393Leu	p.P393L	ENST00000343629	NM_020947.3	393	cCg/cTg	0	A:0	.	.	.	.	A	P/L	protein_coding	YES	CCDS32498.1	1178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCGGGCTG	NONE	byCluster	.	hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF66,Pfam_domain:PF07534,SMART_domains:SM00584	.	A:0.0001	ENSP00000343635	.	7/8	.	.	.	.	.	.	.	.	rs149378530	7/8	PASS	ENST00000343629	Transcript	.	.	ENSG00000140950	29325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	TLDC1_HUMAN	TLDC1	HGNC	H3BUB0_HUMAN,H3BTC5_HUMAN,H3BQ13_HUMAN,B4DM09_HUMAN	.	UPI00001BBB2E	SNV	TLDC1,missense_variant,p.Pro393Leu,ENST00000343629,;TLDC1,missense_variant,p.Pro366Leu,ENST00000535580,;TLDC1,3_prime_UTR_variant,,ENST00000570036,;TLDC1,3_prime_UTR_variant,,ENST00000566995,;	1361	79	85	SUCCESS
GSE1	23199	.	GRCh37	16	85696964	85696964	+	synonymous_variant	Silent	SNP	G	G	A	rs1447093636	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	20	0	ENST00000253458.7:c.2388G>A	p.Leu796=	p.L796=	ENST00000253458	NM_014615.3	796	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10952.1	2388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGCAACT	NONE	.	.	Pfam_domain:PF12540,hmmpanther:PTHR17608:SF3,hmmpanther:PTHR17608,Low_complexity_(Seg):seg	.	.	ENSP00000253458	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000253458	Transcript	.	.	ENSG00000131149	28979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSE1_HUMAN	GSE1	HGNC	C9JLW9_HUMAN	.	UPI0000185F04	SNV	GSE1,synonymous_variant,p.%3D,ENST00000253458,;GSE1,synonymous_variant,p.%3D,ENST00000405402,;GSE1,synonymous_variant,p.%3D,ENST00000412692,;GSE1,synonymous_variant,p.%3D,ENST00000393243,;GSE1,upstream_gene_variant,,ENST00000438180,;RN7SL381P,downstream_gene_variant,,ENST00000577658,;GSE1,non_coding_transcript_exon_variant,,ENST00000469381,;GSE1,upstream_gene_variant,,ENST00000495192,;GSE1,upstream_gene_variant,,ENST00000562659,;GSE1,downstream_gene_variant,,ENST00000479488,;	2564	20	19	SUCCESS
MYH8	4626	.	GRCh37	17	10307807	10307807	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	157	379	1	ENST00000403437.2:c.2528T>A	p.Leu843His	p.L843H	ENST00000403437	NM_002472.2	843	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS11153.1	2528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGGAGG	NONE	.	.	hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000384330	.	22/40	.	.	.	.	.	.	.	.	.	22/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,missense_variant,p.Leu843His,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2623	380	237	SUCCESS
MYH1	4619	.	GRCh37	17	10411951	10411951	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752844108	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	30	73	0	ENST00000226207.5:c.1626G>A	p.Met542Ile	p.M542I	ENST00000226207	NM_005963.3	542	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS11155.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAACATGCA	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000226207	.	16/40	.	.	.	.	.	.	.	.	rs752844108	16/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.498)	.	deleterious(0.03)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Met542Ile,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	1721	73	42	SUCCESS
USP32P1	162632	.	GRCh37	17	16692291	16692291	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	241	127	491	0	ENST00000393005.2:n.334+842T>G		p.*112*	ENST00000393005				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTTGAAT	NONE	.	.	.	.	.	ENSP00000439262	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	MODIFIER	22/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,intron_variant,,ENST00000443444,;RP11-92B11.3,non_coding_transcript_exon_variant,,ENST00000578710,;USP32P1,intron_variant,,ENST00000578986,;RP11-219A15.4,intron_variant,,ENST00000602730,;USP32P1,intron_variant,,ENST00000445583,;USP32P1,intron_variant,,ENST00000393005,;USP32P1,intron_variant,,ENST00000417524,;USP32P1,upstream_gene_variant,,ENST00000577603,;USP32P1,upstream_gene_variant,,ENST00000456071,;RP11-219A15.1,intron_variant,,ENST00000448331,;FAM106CP,non_coding_transcript_exon_variant,,ENST00000582212,;SRP68P1,upstream_gene_variant,,ENST00000584247,;	.	491	368	SUCCESS
LHX1	3975	.	GRCh37	17	35298050	35298050	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	21	0	ENST00000254457.5:c.541C>T	p.Arg181Trp	p.R181W	ENST00000254457	NM_005568.3	181	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS11316.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGCGGGGA	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000254457	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000254457	Transcript	.	.	ENSG00000132130	6593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	deleterious(0.04)	.	LHX1_HUMAN	LHX1	HGNC	Q58F18_HUMAN	.	UPI000013CE37	SNV	LHX1,missense_variant,p.Arg181Trp,ENST00000254457,;RP11-445F12.2,intron_variant,,ENST00000607336,;RP11-445F12.1,upstream_gene_variant,,ENST00000532387,;RP11-445F12.1,upstream_gene_variant,,ENST00000525111,;RP11-445F12.1,upstream_gene_variant,,ENST00000529264,;RP11-445F12.1,upstream_gene_variant,,ENST00000528383,;LHX1,upstream_gene_variant,,ENST00000589584,;LHX1,downstream_gene_variant,,ENST00000559335,;LHX1,non_coding_transcript_exon_variant,,ENST00000557970,;LHX1,non_coding_transcript_exon_variant,,ENST00000559572,;	1952	21	37	SUCCESS
ACACA	31	.	GRCh37	17	35545226	35545226	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	145	1	ENST00000353139.5:c.4767G>A	p.Arg1589=	p.R1589=	ENST00000353139	NM_198834.1	1589	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS42302.1	4767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCCTGGA	NONE	.	.	hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF08326	.	.	ENSP00000344789	.	39/56	.	.	.	.	.	.	.	.	.	39/56	PASS	ENST00000353139	Transcript	.	.	ENSG00000132142	84	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACA_HUMAN	ACACA	HGNC	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN	.	UPI00002263AC	SNV	ACACA,synonymous_variant,p.%3D,ENST00000592427,;ACACA,synonymous_variant,p.%3D,ENST00000591119,;ACACA,synonymous_variant,p.%3D,ENST00000360679,;ACACA,synonymous_variant,p.%3D,ENST00000353139,;ACACA,synonymous_variant,p.%3D,ENST00000394406,;ACACA,synonymous_variant,p.%3D,ENST00000335166,;ACACA,downstream_gene_variant,,ENST00000586621,;	5249	146	98	SUCCESS
KRT9	3857	.	GRCh37	17	39723992	39723992	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs201817471	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	28	0	ENST00000246662.4:c.1405G>T	p.Gly469Ter	p.G469*	ENST00000246662	NM_000226.3	469	Gga/Tga	0	.	G:0.0008	.	G:0	.	A	G/*	protein_coding	YES	CCDS32654.1	1405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCCGGAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96	G:0	.	ENSP00000246662	G:0	7/8	.	.	.	.	.	.	.	.	rs201817471	7/8	PASS	ENST00000246662	Transcript	.	G:0.0002	ENSG00000171403	6447	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	K1C9_HUMAN	KRT9	HGNC	K7EQQ3_HUMAN	.	UPI00001AE6F7	SNV	KRT9,stop_gained,p.Gly236Ter,ENST00000588431,;KRT9,stop_gained,p.Gly469Ter,ENST00000246662,;	1471	28	28	SUCCESS
HAP1	9001	.	GRCh37	17	39881005	39881005	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	33	0	ENST00000310778.5:c.1964A>C	p.His655Pro	p.H655P	ENST00000310778		655	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS11406.1	1808	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCCCGTGGGGG	NONE	.	.	hmmpanther:PTHR15751:SF14,hmmpanther:PTHR15751	.	.	ENSP00000334002	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000347901	Transcript	.	.	ENSG00000173805	4812	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated_low_confidence(0.15)	.	HAP1_HUMAN	HAP1	HGNC	.	.	UPI000024700D	SNV	HAP1,missense_variant,p.His578Pro,ENST00000393939,;HAP1,missense_variant,p.His603Pro,ENST00000347901,;HAP1,missense_variant,p.His586Pro,ENST00000341193,;HAP1,missense_variant,p.His655Pro,ENST00000310778,;HAP1,intron_variant,,ENST00000458656,;HAP1,intron_variant,,ENST00000442364,;JUP,intron_variant,,ENST00000540235,;HAP1,intron_variant,,ENST00000455021,;	1818	33	14	SUCCESS
ACAP1	9744	.	GRCh37	17	7254302	7254302	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	17	48	0	ENST00000158762.3:c.2106G>A	p.Ala702=	p.A702=	ENST00000158762	NM_014716.3	702	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11101.1	2106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGGCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF197,hmmpanther:PTHR23180,SMART_domains:SM00248	.	.	ENSP00000158762	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000158762	Transcript	.	.	ENSG00000072818	16467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACAP1_HUMAN	ACAP1	HGNC	I3L2Z4_HUMAN,I3L268_HUMAN,I3L0K9_HUMAN	.	UPI000012749A	SNV	ACAP1,synonymous_variant,p.%3D,ENST00000574499,;ACAP1,synonymous_variant,p.%3D,ENST00000571471,;ACAP1,synonymous_variant,p.%3D,ENST00000158762,;ACAP1,synonymous_variant,p.%3D,ENST00000575415,;ACAP1,synonymous_variant,p.%3D,ENST00000570504,;KCTD11,upstream_gene_variant,,ENST00000333751,;TMEM95,upstream_gene_variant,,ENST00000576060,;TMEM95,upstream_gene_variant,,ENST00000389982,;TMEM95,upstream_gene_variant,,ENST00000330767,;RP11-542C16.1,downstream_gene_variant,,ENST00000572417,;KCTD11,upstream_gene_variant,,ENST00000576980,;ACAP1,downstream_gene_variant,,ENST00000576594,;ACAP1,downstream_gene_variant,,ENST00000570439,;	2312	48	27	SUCCESS
EVPL	2125	.	GRCh37	17	74014610	74014611	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CCCT	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	77	27	66	0	ENST00000301607.3:c.1352_1355dup	p.Pro453GlyfsTer22	p.P453Gfs*22	ENST00000301607	NM_001988.2	452	ggc/ggAGGGc	0	.	.	.	.	.	CCCT	G/GGX	protein_coding	YES	CCDS11737.1	1355-1356	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGGGCCCTG	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	insertion	EVPL,frameshift_variant,p.Pro453GlyfsTer22,ENST00000586740,;EVPL,frameshift_variant,p.Pro453GlyfsTer22,ENST00000301607,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	1609-1610	66	104	SUCCESS
TP53	7157	.	GRCh37	17	7577064	7577064	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	56	0	ENST00000269305.4:c.874A>T	p.Lys292Ter	p.K292*	ENST00000269305	NM_001126112.2	292	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS11118.1	874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTCTTGC	SITE|p.K292*|c.874A>T|5,SITE|p.K292*|c.874A>T|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.K291fs*48|c.871_889del19|8,CODON|p.K292T|c.875A>C|4,CODON|p.K292R|c.875A>G|5,BUFFER|p.P295P|c.885T>C|3,BUFFER|p.P295L|c.884C>T|4,BUFFER|p.E294E|c.882G>A|4,BUFFER|p.E294fs*51|c.880delG|9,BUFFER|p.E294*|c.880G>T|50,BUFFER|p.E294fs*12|c.879_880insN|3,BUFFER|p.E294K|c.880G>A|3,BUFFER|p.E294*|c.880G>T|5,BUFFER|p.E294*|c.880G>T|12,BUFFER|p.E294*|c.880G>T|5,BUFFER|p.G293G|c.879G>C|3,BUFFER|p.G293G|c.879G>A|4,BUFFER|p.E294fs*51|c.877delG|3,BUFFER|p.G293R|c.877G>A|4,BUFFER|p.G293fs*13|c.876_877insN|3,BUFFER|p.K291N|c.873G>C|3,BUFFER|p.N288fs*13|c.859_872del14|17,BUFFER|p.K291R|c.872A>G|3,BUFFER|p.K291T|c.872A>C|3,BUFFER|p.K291*|c.871A>T|6,BUFFER|p.R290L|c.869G>T|4,BUFFER|p.R290H|c.869G>A|19,BUFFER|p.R290C|c.868C>T|6,BUFFER|p.L289L|c.867C>T|3,BUFFER|p.L289F|c.865C>T|3,BUFFER|p.N288S|c.863A>G|6	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	TP53_g.13854del,TP53_g.13854A>T,TP53_g.13854A>C,TP53_g.13854A>G,COSM44894,COSM44207,COSM44451,COSM1172458	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Lys292Ter,ENST00000420246,;TP53,stop_gained,p.Lys292Ter,ENST00000269305,;TP53,stop_gained,p.Lys160Ter,ENST00000509690,;TP53,stop_gained,p.Lys292Ter,ENST00000359597,;TP53,stop_gained,p.Lys292Ter,ENST00000445888,;TP53,stop_gained,p.Lys292Ter,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1064	56	30	SUCCESS
TMC6	11322	.	GRCh37	17	76120809	76120809	+	synonymous_variant	Silent	SNP	C	C	T	rs369185930	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	42	0	ENST00000322914.3:c.687G>A	p.Pro229=	p.P229=	ENST00000322914	NM_007267.6	229	ccG/ccA	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS32748.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCACGGCAT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4	.	T:0.0005	ENSP00000465261	.	8/20	.	.	.	.	.	.	.	.	rs369185930	8/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,synonymous_variant,p.%3D,ENST00000322914,;TMC6,synonymous_variant,p.%3D,ENST00000306591,;TMC6,synonymous_variant,p.%3D,ENST00000392467,;TMC6,synonymous_variant,p.%3D,ENST00000590602,;TMC6,synonymous_variant,p.%3D,ENST00000589553,;TMC6,synonymous_variant,p.%3D,ENST00000589271,;TMC6,5_prime_UTR_variant,,ENST00000322933,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,downstream_gene_variant,,ENST00000592594,;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,upstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000586126,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,upstream_gene_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000588792,;	847	42	80	SUCCESS
DNAH17	8632	.	GRCh37	17	76490821	76490821	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	28	0	ENST00000389840.5:c.6082G>C	p.Ala2028Pro	p.A2028P	ENST00000389840		2028	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	.	6082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCCCGGC	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	.	.	ENSP00000374490	.	40/81	.	.	.	.	.	.	.	.	.	40/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Ala2037Pro,ENST00000585328,;DNAH17,missense_variant,p.Ala2028Pro,ENST00000389840,;DNAH17-AS1,upstream_gene_variant,,ENST00000598378,;RP11-559N14.5,intron_variant,,ENST00000591373,;RP11-559N14.5,downstream_gene_variant,,ENST00000585969,;RP11-559N14.5,downstream_gene_variant,,ENST00000588565,;DNAH17,upstream_gene_variant,,ENST00000586052,;	6207	28	31	SUCCESS
GAS7	8522	.	GRCh37	17	9846500	9846500	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	24	74	0	ENST00000432992.2:c.669G>T	p.Leu223=	p.L223=	ENST00000432992	NM_201433.1	223	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11152.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCAGTAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF103657,SMART_domains:SM00055,Pfam_domain:PF00611,hmmpanther:PTHR23065:SF10,hmmpanther:PTHR23065,PROSITE_profiles:PS50133	.	.	ENSP00000407552	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000432992	Transcript	.	.	ENSG00000007237	4169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAS7_HUMAN	GAS7	HGNC	J3QS26_HUMAN,J3QLH8_HUMAN,J3KTK6_HUMAN,J3KTB1_HUMAN,J3KS47_HUMAN,B7Z1Q2_HUMAN	.	UPI00001B4B17	SNV	GAS7,synonymous_variant,p.%3D,ENST00000579158,;GAS7,synonymous_variant,p.%3D,ENST00000437099,;GAS7,synonymous_variant,p.%3D,ENST00000584146,;GAS7,synonymous_variant,p.%3D,ENST00000432992,;GAS7,synonymous_variant,p.%3D,ENST00000323816,;GAS7,synonymous_variant,p.%3D,ENST00000580865,;GAS7,synonymous_variant,p.%3D,ENST00000585266,;GAS7,synonymous_variant,p.%3D,ENST00000542249,;GAS7,intron_variant,,ENST00000396115,;GAS7,intron_variant,,ENST00000540214,;GAS7,intron_variant,,ENST00000583882,;GAS7,downstream_gene_variant,,ENST00000584389,;GAS7,downstream_gene_variant,,ENST00000578599,;GAS7,non_coding_transcript_exon_variant,,ENST00000580811,;GAS7,non_coding_transcript_exon_variant,,ENST00000581871,;GAS7,non_coding_transcript_exon_variant,,ENST00000579140,;GAS7,downstream_gene_variant,,ENST00000578655,;	830	74	35	SUCCESS
SPIRE1	56907	.	GRCh37	18	12454401	12454401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	60	175	0	ENST00000409402.4:c.1720G>A	p.Glu574Lys	p.E574K	ENST00000409402	NM_001128626.1	574	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS45829.1	1720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTCTGCCT	NONE	.	.	Superfamily_domains:SSF57903,hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2	.	.	ENSP00000387266	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000409402	Transcript	.	.	ENSG00000134278	30622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SPIR1_HUMAN	SPIRE1	HGNC	Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN	.	UPI00001C1FFE	SNV	SPIRE1,missense_variant,p.Glu574Lys,ENST00000409402,;SPIRE1,missense_variant,p.Glu560Lys,ENST00000410092,;SPIRE1,missense_variant,p.Glu401Lys,ENST00000383356,;SPIRE1,missense_variant,p.Glu363Lys,ENST00000309836,;SPIRE1,missense_variant,p.Glu440Lys,ENST00000453447,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000464481,;SPIRE1,missense_variant,p.Arg115Lys,ENST00000592156,;SPIRE1,missense_variant,p.Glu401Lys,ENST00000440472,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000588236,;SPIRE1,upstream_gene_variant,,ENST00000498803,;RP11-861E21.3,downstream_gene_variant,,ENST00000588063,;	1988	175	162	SUCCESS
LAMA3	3909	.	GRCh37	18	21523852	21523852	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs778826328	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	79	0	ENST00000313654.9:c.9127C>A	p.Arg3043Ser	p.R3043S	ENST00000313654	NM_198129.1	3043	Cgt/Agt	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS42419.1	9127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACGTCTG	NONE	byFrequency	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000324532	.	69/75	.	.	.	.	.	.	.	.	rs778826328	69/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	.	.	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Arg1378Ser,ENST00000587184,;LAMA3,missense_variant,p.Arg3043Ser,ENST00000313654,;LAMA3,missense_variant,p.Arg1434Ser,ENST00000269217,;LAMA3,missense_variant,p.Arg2987Ser,ENST00000399516,;LAMA3,upstream_gene_variant,,ENST00000590104,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;	9368	79	68	SUCCESS
DLGAP1	9229	.	GRCh37	18	3879551	3879551	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761130306	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	25	0	ENST00000315677.3:c.518C>T	p.Ala173Val	p.A173V	ENST00000315677	NM_004746.3	173	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11836.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCGCCTCG	NONE	byFrequency	.	hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353	.	.	ENSP00000316377	.	4/13	.	.	.	.	.	.	.	.	rs761130306	4/13	PASS	ENST00000315677	Transcript	.	.	ENSG00000170579	2905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.13)	.	DLGP1_HUMAN	DLGAP1	HGNC	.	.	UPI0000129490	SNV	DLGAP1,missense_variant,p.Ala173Val,ENST00000581527,;DLGAP1,missense_variant,p.Ala173Val,ENST00000315677,;DLGAP1,missense_variant,p.Ala173Val,ENST00000584874,;DLGAP1,missense_variant,p.Ala173Val,ENST00000515196,;DLGAP1,upstream_gene_variant,,ENST00000534970,;DLGAP1-AS3,intron_variant,,ENST00000577649,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;DLGAP1,upstream_gene_variant,,ENST00000478161,;	1114	25	28	SUCCESS
RTTN	25914	.	GRCh37	18	67802444	67802444	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1378036167	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	40	158	0	ENST00000255674.6:c.2861A>G	p.Asp954Gly	p.D954G	ENST00000255674	NM_173630.3	954	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS42443.1	2861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATCAAAT	NONE	.	.	hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	.	.	ENSP00000255674	.	22/49	.	.	.	.	.	.	.	.	.	22/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,missense_variant,p.Asp954Gly,ENST00000255674,;RTTN,missense_variant,p.Asp954Gly,ENST00000437017,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;	3148	158	179	SUCCESS
ABCA7	10347	.	GRCh37	19	1051046	1051046	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	47	0	ENST00000263094.6:c.2679T>A	p.Phe893Leu	p.F893L	ENST00000263094	NM_019112.3	893	ttT/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS12055.1	2679	RADIA|MUTECT|MUSE	.	CTGTTTGACAT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000263094	.	19/47	.	.	.	.	.	.	.	.	.	19/47	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,missense_variant,p.Phe893Leu,ENST00000263094,;ABCA7,missense_variant,p.Phe755Leu,ENST00000435683,;ABCA7,missense_variant,p.Phe893Leu,ENST00000433129,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000530092,;	2910	47	23	SUCCESS
KEAP1	9817	.	GRCh37	19	10610444	10610444	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs970670762	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	28	48	0	ENST00000171111.5:c.266C>T	p.Pro89Leu	p.P89L	ENST00000171111	NM_203500.1	89	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS12239.1	266	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCGGTGCA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695	.	.	ENSP00000171111	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000171111	Transcript	.	.	ENSG00000079999	23177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated(0.05)	.	KEAP1_HUMAN	KEAP1	HGNC	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN	.	UPI000007139C	SNV	KEAP1,missense_variant,p.Pro89Leu,ENST00000591419,;KEAP1,missense_variant,p.Pro89Leu,ENST00000591039,;KEAP1,missense_variant,p.Pro89Leu,ENST00000393623,;KEAP1,missense_variant,p.Pro89Leu,ENST00000171111,;KEAP1,missense_variant,p.Pro89Leu,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	814	48	36	SUCCESS
APC2	10297	.	GRCh37	19	1468353	1468354	+	stop_gained,inframe_insertion	Nonsense_Mutation	INS	-	-	AGT	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	6	20	35	0	ENST00000233607.2:c.5054_5056dup	p.Glu1685_Trp1686insTer	p.E1685_W1686ins*	ENST00000233607	NM_005883.2	1685	gag/gAGTag	0	.	.	.	.	.	AGT	E/E*	protein_coding	YES	CCDS12068.1	5053-5054	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGTGGAGTGG	NONE	.	.	hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607	.	.	ENSP00000442954	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	insertion	APC2,stop_gained,p.Glu1685_Trp1686insTer,ENST00000233607,;APC2,stop_gained,p.Glu1685_Trp1686insTer,ENST00000535453,;APC2,stop_gained,p.Glu1411_Trp1412insTer,ENST00000238483,;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000436106,;C19orf25,downstream_gene_variant,,ENST00000588871,;APC2,downstream_gene_variant,,ENST00000593146,;	6766-6767	35	26	SUCCESS
F2RL3	9002	.	GRCh37	19	17001135	17001135	+	synonymous_variant	Silent	SNP	G	G	T	rs770801019	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	17	0	ENST00000248076.3:c.861G>T	p.Val287=	p.V287=	ENST00000248076	NM_003950.2	287	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12350.1	861	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTGGTGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF22,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01428,Prints_domain:PR00237	.	.	ENSP00000248076	.	2/2	.	.	.	.	.	.	.	.	rs770801019	2/2	PASS	ENST00000248076	Transcript	.	.	ENSG00000127533	3540	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR4_HUMAN	F2RL3	HGNC	.	.	UPI000013CC36	SNV	F2RL3,synonymous_variant,p.%3D,ENST00000248076,;CPAMD8,downstream_gene_variant,,ENST00000598792,;CPAMD8,downstream_gene_variant,,ENST00000443236,;CPAMD8,downstream_gene_variant,,ENST00000594249,;F2RL3,downstream_gene_variant,,ENST00000599210,;CPAMD8,downstream_gene_variant,,ENST00000598547,;CPAMD8,downstream_gene_variant,,ENST00000602132,;CPAMD8,downstream_gene_variant,,ENST00000597335,;CPAMD8,downstream_gene_variant,,ENST00000600235,;CPAMD8,downstream_gene_variant,,ENST00000596224,;CPAMD8,downstream_gene_variant,,ENST00000597709,;CPAMD8,downstream_gene_variant,,ENST00000601782,;	1191	17	33	SUCCESS
ZNF98	148198	.	GRCh37	19	22574550	22574550	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	80	247	0	ENST00000357774.5:c.1487G>C	p.Gly496Ala	p.G496A	ENST00000357774	NM_001098626.1	496	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS46031.1	1487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGCCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	COSM1271942,COSM1271943	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.051)	.	deleterious(0)	1,1	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,missense_variant,p.Gly496Ala,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	1609	247	326	SUCCESS
MATK	4145	.	GRCh37	19	3783884	3783884	+	synonymous_variant	Silent	SNP	G	G	A	rs766711251	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	36	77	0	ENST00000310132.6:c.510C>T	p.Arg170=	p.R170=	ENST00000310132	NM_139355.2	170	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12113.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACGCGGTA	NONE	byFrequency	.	PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000378485	.	6/14	.	.	.	.	.	.	.	.	rs766711251	6/14	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,synonymous_variant,p.%3D,ENST00000587180,;MATK,synonymous_variant,p.%3D,ENST00000585778,;MATK,synonymous_variant,p.%3D,ENST00000395045,;MATK,synonymous_variant,p.%3D,ENST00000395040,;MATK,synonymous_variant,p.%3D,ENST00000310132,;MATK,synonymous_variant,p.%3D,ENST00000588983,;MATK,synonymous_variant,p.%3D,ENST00000590028,;MATK,synonymous_variant,p.%3D,ENST00000590493,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590821,;	851	77	55	SUCCESS
CEACAM3	1084	.	GRCh37	19	42301829	42301829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	35	95	0	ENST00000357396.3:c.373A>T	p.Ile125Leu	p.I125L	ENST00000357396	NM_001815.3	125	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS12586.2	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCATAAAG	NONE	.	.	hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	.	.	ENSP00000349971	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000357396	Transcript	.	.	ENSG00000170956	1815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	tolerated(0.12)	.	CEAM3_HUMAN	CEACAM3	HGNC	M0QXR5_HUMAN	.	UPI000013C7E7	SNV	CEACAM3,missense_variant,p.Ile125Leu,ENST00000357396,;CEACAM3,missense_variant,p.Ile125Leu,ENST00000344550,;CEACAM3,missense_variant,p.Ile125Leu,ENST00000221999,;CEACAM3,missense_variant,p.Ile85Leu,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,missense_variant,p.Ile125Leu,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;	614	95	57	SUCCESS
LRRC4B	94030	.	GRCh37	19	51021453	51021453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	12	14	0	ENST00000389201.3:c.1517C>T	p.Pro506Leu	p.P506L	ENST00000389201	NM_001080457.1	506	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS42595.1	1517	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCCGCGGCTGC	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF7	.	.	ENSP00000471502	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000599957	Transcript	.	.	ENSG00000131409	25042	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.026)	.	tolerated_low_confidence(0.13)	.	LRC4B_HUMAN	LRRC4B	HGNC	M0R2G0_HUMAN,A0PJJ4_HUMAN	.	UPI00000497E7	SNV	LRRC4B,missense_variant,p.Pro506Leu,ENST00000599957,;LRRC4B,missense_variant,p.Pro506Leu,ENST00000389201,;LRRC4B,downstream_gene_variant,,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000376916,;ASPDH,upstream_gene_variant,,ENST00000389208,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000601287,;	1715	14	13	SUCCESS
ZNF577	84765	.	GRCh37	19	52376841	52376841	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	35	123	0	ENST00000301399.5:c.402A>T	p.Arg134Ser	p.R134S	ENST00000301399	NM_032679.2	134	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12842.2	402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACATCTATG	NONE	.	.	hmmpanther:PTHR24377:SF208,hmmpanther:PTHR24377	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.4)	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,missense_variant,p.Arg134Ser,ENST00000458390,;ZNF577,missense_variant,p.Arg134Ser,ENST00000301399,;ZNF577,intron_variant,,ENST00000451628,;ZNF577,intron_variant,,ENST00000420592,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,downstream_gene_variant,,ENST00000419138,;ZNF577,downstream_gene_variant,,ENST00000446514,;ZNF577,downstream_gene_variant,,ENST00000453272,;ZNF577,downstream_gene_variant,,ENST00000592321,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	768	123	56	SUCCESS
ZNF577	84765	.	GRCh37	19	52376925	52376925	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	29	87	0	ENST00000301399.5:c.318A>T	p.Lys106Asn	p.K106N	ENST00000301399	NM_032679.2	106	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS12842.2	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCTTTTCC	NONE	.	.	hmmpanther:PTHR24377:SF208,hmmpanther:PTHR24377	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	tolerated(0.11)	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,missense_variant,p.Lys106Asn,ENST00000458390,;ZNF577,missense_variant,p.Lys106Asn,ENST00000301399,;ZNF577,intron_variant,,ENST00000451628,;ZNF577,intron_variant,,ENST00000420592,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,downstream_gene_variant,,ENST00000419138,;ZNF577,downstream_gene_variant,,ENST00000446514,;ZNF577,downstream_gene_variant,,ENST00000453272,;ZNF577,downstream_gene_variant,,ENST00000592321,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	684	87	45	SUCCESS
PRPF31	26121	.	GRCh37	19	54626868	54626868	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs755057237	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	40	68	0	ENST00000321030.4:c.456T>A	p.Asn152Lys	p.N152K	ENST00000321030	NM_015629.3	152	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS12879.1	456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAATGAGAA	NONE	.	.	hmmpanther:PTHR13904,Superfamily_domains:SSF89124	.	.	ENSP00000324122	.	6/14	.	.	.	.	.	.	.	.	rs755057237	6/14	PASS	ENST00000321030	Transcript	1	.	ENSG00000105618	15446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.2)	.	PRP31_HUMAN	PRPF31	HGNC	F1T0A5_HUMAN,E7EU94_HUMAN,E7ESX0_HUMAN,E7EN72_HUMAN	.	UPI000013D407	SNV	PRPF31,missense_variant,p.Asn152Lys,ENST00000391755,;PRPF31,missense_variant,p.Asn152Lys,ENST00000445124,;PRPF31,missense_variant,p.Asn152Lys,ENST00000419967,;PRPF31,missense_variant,p.Asn152Lys,ENST00000321030,;PRPF31,missense_variant,p.Asn152Lys,ENST00000447810,;PRPF31,missense_variant,p.Asn152Lys,ENST00000445811,;AC012314.8,non_coding_transcript_exon_variant,,ENST00000452097,;PRPF31,non_coding_transcript_exon_variant,,ENST00000498612,;PRPF31,non_coding_transcript_exon_variant,,ENST00000466404,;PRPF31,downstream_gene_variant,,ENST00000467851,;	805	68	74	SUCCESS
ZNF667	63934	.	GRCh37	19	56952664	56952664	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	68	99	1	ENST00000292069.6:c.1700G>T	p.Gly567Val	p.G567V	ENST00000292069	NM_022103.3	567	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12944.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCCACTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000439402	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000504904	Transcript	.	.	ENSG00000198046	28854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.12)	.	ZN667_HUMAN	ZNF667	HGNC	K7ERY5_HUMAN,K7EIE0_HUMAN	.	UPI0000202CEE	SNV	ZNF667,missense_variant,p.Gly695Val,ENST00000342634,;ZNF667,missense_variant,p.Gly567Val,ENST00000292069,;ZNF667,missense_variant,p.Gly567Val,ENST00000504904,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;	2420	100	122	SUCCESS
C3	718	.	GRCh37	19	6678293	6678293	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	69	0	ENST00000245907.6:c.4720del	p.Asp1574MetfsTer21	p.D1574Mfs*21	ENST00000245907	NM_000064.2	1574	Gat/at	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS32883.1	4720	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCATCCGAGC	NONE	.	.	PROSITE_profiles:PS50189,Pfam_domain:PF01759,SMART_domains:SM00643,Superfamily_domains:SSF50242	.	.	ENSP00000245907	.	40/41	.	.	.	.	.	.	.	.	.	40/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	deletion	C3,frameshift_variant,p.Asp1574MetfsTer21,ENST00000245907,;C3,frameshift_variant,p.Asp57MetfsTer21,ENST00000602229,;C3,intron_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000596548,;C3,non_coding_transcript_exon_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000601475,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;	4813	69	63	SUCCESS
PRSS57	400668	.	GRCh37	19	687104	687104	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201377261	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	36	78	0	ENST00000329267.7:c.466C>T	p.Arg156Trp	p.R156W	ENST00000329267	NM_214710.3	156	Cgg/Tgg	0	.	A:0	.	A:0.0029	.	A	R/W	protein_coding	YES	CCDS12041.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCGTGTCC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50240,hmmpanther:PTHR24259:SF58,hmmpanther:PTHR24259,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	A:0	.	ENSP00000327386	A:0	4/5	.	.	.	.	.	.	.	.	rs201377261	4/5	PASS	ENST00000329267	Transcript	.	A:0.0006	ENSG00000185198	31397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	A:0.001	tolerated(0.16)	.	PRS57_HUMAN	PRSS57	HGNC	.	.	UPI000022AA4D	SNV	PRSS57,missense_variant,p.Arg156Trp,ENST00000329267,;FSTL3,downstream_gene_variant,,ENST00000166139,;FSTL3,downstream_gene_variant,,ENST00000592947,;RPS2P52,upstream_gene_variant,,ENST00000469610,;	496	78	57	SUCCESS
KIF1B	23095	.	GRCh37	1	10408742	10408742	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	68	0	ENST00000377086.1:c.3900T>A	p.His1300Gln	p.H1300Q	ENST00000377086		1300	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS111.1	3762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCATGAGAA	NONE	.	.	hmmpanther:PTHR24115:SF328,hmmpanther:PTHR24115,Pfam_domain:PF12473	.	.	ENSP00000263934	.	35/47	.	.	.	.	.	.	.	.	.	35/47	PASS	ENST00000263934	Transcript	.	.	ENSG00000054523	16636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	KIF1B_HUMAN	KIF1B	HGNC	B4DMF3_HUMAN	.	UPI000013EE7E	SNV	KIF1B,missense_variant,p.His1300Gln,ENST00000377081,;KIF1B,missense_variant,p.His1300Gln,ENST00000377086,;KIF1B,missense_variant,p.His1254Gln,ENST00000263934,;KIF1B,non_coding_transcript_exon_variant,,ENST00000465635,;KIF1B,non_coding_transcript_exon_variant,,ENST00000483340,;	3915	68	78	SUCCESS
ARNT	405	.	GRCh37	1	150808753	150808753	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	55	0	ENST00000358595.5:c.700+3G>C		p.X234_splice	ENST00000358595	NM_178427.2	234		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS970.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTCACCTG	NONE	.	.	.	.	.	ENSP00000351407	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358595	Transcript	.	.	ENSG00000143437	700	.	.	LOW	7/21	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARNT_HUMAN	ARNT	HGNC	.	.	UPI0000030984	SNV	ARNT,splice_region_variant,,ENST00000358595,;ARNT,splice_region_variant,,ENST00000354396,;ARNT,splice_region_variant,,ENST00000505755,;ARNT,splice_region_variant,,ENST00000515192,;ARNT,splice_region_variant,,ENST00000468970,;ARNT,downstream_gene_variant,,ENST00000497108,;ARNT,splice_region_variant,,ENST00000471844,;ARNT,downstream_gene_variant,,ENST00000504358,;ARNT,upstream_gene_variant,,ENST00000512296,;ARNT,downstream_gene_variant,,ENST00000505979,;	.	55	55	SUCCESS
NPR1	4881	.	GRCh37	1	153653014	153653014	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	74	80	0	ENST00000368680.3:c.759C>T	p.Thr253=	p.T253=	ENST00000368680	NM_000906.3	253	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS1051.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACCCTCAT	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF232,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00255	.	.	ENSP00000357669	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000368680	Transcript	.	.	ENSG00000169418	7943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRA_HUMAN	NPR1	HGNC	.	.	UPI0000125B3D	SNV	NPR1,synonymous_variant,p.%3D,ENST00000368680,;NPR1,upstream_gene_variant,,ENST00000413826,;	1231	80	88	SUCCESS
CELA2A	63036	.	GRCh37	1	15788106	15788106	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	37	134	0	ENST00000359621.4:c.180G>T	p.Gly60=	p.G60=	ENST00000359621	NM_033440.2	60	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS157.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGTCCCT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF13,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000352639	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000359621	Transcript	.	.	ENSG00000142615	24609	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEL2A_HUMAN	CELA2A	HGNC	.	.	UPI0000129E36	SNV	CELA2A,synonymous_variant,p.%3D,ENST00000359621,;CELA2A,non_coding_transcript_exon_variant,,ENST00000459653,;CELA2A,downstream_gene_variant,,ENST00000497590,;CELA2B,upstream_gene_variant,,ENST00000494280,;	205	134	113	SUCCESS
OR6K2	81448	.	GRCh37	1	158669510	158669510	+	synonymous_variant	Silent	SNP	T	T	A	rs754789734	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	33	123	0	ENST00000359610.2:c.933A>T	p.Ile311=	p.I311=	ENST00000359610	NM_001005279.1	311	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS30902.1	933	RADIA|MUTECT|MUSE	.	AAAAATATCTT	NONE	.	.	Superfamily_domains:SSF81321	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	rs754417466,rs754789734	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,synonymous_variant,p.%3D,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	977	123	104	SUCCESS
OR6K2	81448	.	GRCh37	1	158669512	158669512	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781040308	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	34	124	0	ENST00000359610.2:c.931A>T	p.Ile311Leu	p.I311L	ENST00000359610	NM_001005279.1	311	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS30902.1	931	RADIA|MUTECT|MUSE	.	AAATATCTTAG	NONE	byFrequency	.	Superfamily_domains:SSF81321	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	rs781040308	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.27)	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,missense_variant,p.Ile311Leu,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	975	124	103	SUCCESS
MNDA	4332	.	GRCh37	1	158817562	158817562	+	synonymous_variant	Silent	SNP	T	T	C	rs1411842518	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	33	53	0	ENST00000368141.4:c.1032T>C	p.Asn344=	p.N344=	ENST00000368141	NM_002432.1	344	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS1177.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAATACAGG	NONE	.	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200:SF18,hmmpanther:PTHR12200,Pfam_domain:PF02760,Gene3D:2.40.50.140,Superfamily_domains:SSF159141	.	.	ENSP00000357123	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,synonymous_variant,p.%3D,ENST00000438394,;MNDA,synonymous_variant,p.%3D,ENST00000368141,;	1293	53	39	SUCCESS
DUSP27	0	.	GRCh37	1	167096118	167096118	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369939829	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	28	36	0	ENST00000361200.2:c.1750G>A	p.Val584Ile	p.V584I	ENST00000361200		584	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS30932.1	1750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACGTCAGC	NONE	byCluster	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs369939829,COSM221436	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.008)	.	tolerated(0.21)	0,1	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Val584Ile,ENST00000361200,;DUSP27,missense_variant,p.Val584Ile,ENST00000443333,;DUSP27,missense_variant,p.Val584Ile,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1916	36	41	SUCCESS
RCSD1	92241	.	GRCh37	1	167666934	167666934	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs777750714	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	25	36	0	ENST00000367854.3:c.1073G>T	p.Gly358Val	p.G358V	ENST00000367854	NM_052862.3	358	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1263.1	1073	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2	.	.	ENSP00000356828	.	6/7	.	.	.	.	.	.	.	.	rs777750714	6/7	PASS	ENST00000367854	Transcript	.	.	ENSG00000198771	28310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	deleterious(0.02)	.	CPZIP_HUMAN	RCSD1	HGNC	.	.	UPI0000204CFA	SNV	RCSD1,missense_variant,p.Gly328Val,ENST00000537350,;RCSD1,missense_variant,p.Gly358Val,ENST00000367854,;RCSD1,downstream_gene_variant,,ENST00000361496,;	1404	36	27	SUCCESS
ASTN1	460	.	GRCh37	1	177030375	177030375	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138326291	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	48	74	0	ENST00000361833.2:c.310C>A	p.Pro104Thr	p.P104T	ENST00000361833		104	Cct/Act	0	C:0	.	.	.	.	T	P/T	protein_coding	YES	CCDS1319.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGGATAT	NONE	byCluster	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	C:0.0002	ENSP00000354536	.	2/23	.	.	.	.	.	.	.	.	rs138326291	2/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious_low_confidence(0)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Pro104Thr,ENST00000367654,;ASTN1,missense_variant,p.Pro104Thr,ENST00000424564,;ASTN1,missense_variant,p.Pro104Thr,ENST00000361833,;ASTN1,missense_variant,p.Pro104Thr,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	324	74	61	SUCCESS
SLC45A3	85414	.	GRCh37	1	205628667	205628667	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	57	71	0	ENST00000367145.3:c.1357C>A	p.Leu453Met	p.L453M	ENST00000367145	NM_033102.2	453	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS1458.1	1357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGGCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432	.	.	ENSP00000356113	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367145	Transcript	.	.	ENSG00000158715	8642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	tolerated(0.22)	.	S45A3_HUMAN	SLC45A3	HGNC	Q658X7_HUMAN,A8K2U9_HUMAN	.	UPI0000039836	SNV	SLC45A3,missense_variant,p.Leu453Met,ENST00000367145,;SLC45A3,non_coding_transcript_exon_variant,,ENST00000460934,;	1653	71	70	SUCCESS
KIF26B	55083	.	GRCh37	1	245530263	245530263	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	65	0	ENST00000407071.2:c.593C>A	p.Ala198Asp	p.A198D	ENST00000407071	NM_018012.3	198	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS44342.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCATCC	NONE	.	.	.	.	.	ENSP00000385545	.	3/15	.	.	.	.	.	.	.	.	COSM3486430,COSM3486429	3/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious(0)	1,1	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,missense_variant,p.Ala198Asp,ENST00000407071,;AL359983.1,upstream_gene_variant,,ENST00000408238,;KIF26B,non_coding_transcript_exon_variant,,ENST00000479506,;	1033	65	65	SUCCESS
ZNF670	93474	.	GRCh37	1	247201663	247201663	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	58	70	0	ENST00000366503.2:c.258G>A	p.Gln86=	p.Q86=	ENST00000366503	NM_001204220.1	86	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS31087.1	258	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCCTGGCT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24402:SF168,hmmpanther:PTHR24402,Superfamily_domains:SSF57667	.	.	ENSP00000355459	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366503	Transcript	.	.	ENSG00000135747	28167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN670_HUMAN	ZNF670	HGNC	.	.	UPI0000070EC3	SNV	ZNF670,synonymous_variant,p.%3D,ENST00000366503,;ZNF670,intron_variant,,ENST00000474541,;ZNF670,intron_variant,,ENST00000465049,;RP11-551G24.2,upstream_gene_variant,,ENST00000439523,;	417	70	66	SUCCESS
NLRP3	114548	.	GRCh37	1	247588229	247588229	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768582957	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	26	21	0	ENST00000336119.3:c.1484A>G	p.Gln495Arg	p.Q495R	ENST00000336119	NM_001127462.2	495	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS1632.1	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAGAAGG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,PROSITE_profiles:PS50837	.	.	ENSP00000337383	.	3/9	.	.	.	.	.	.	.	.	rs768582957	3/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.1)	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,missense_variant,p.Gln495Arg,ENST00000366496,;NLRP3,missense_variant,p.Gln495Arg,ENST00000336119,;NLRP3,missense_variant,p.Gln495Arg,ENST00000391827,;NLRP3,missense_variant,p.Gln495Arg,ENST00000366497,;NLRP3,missense_variant,p.Gln495Arg,ENST00000391828,;NLRP3,missense_variant,p.Gln495Arg,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	2230	21	38	SUCCESS
OR14K1	343170	.	GRCh37	1	247902164	247902164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	113	158	0	ENST00000283225.2:c.248C>A	p.Ser83Tyr	p.S83Y	ENST00000283225		83	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	.	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTCTGTCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000283225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000283225	Transcript	.	.	ENSG00000153230	15025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	.	deleterious(0.02)	.	O14K1_HUMAN	OR14K1	HGNC	.	.	UPI0000041CBA	SNV	OR14K1,missense_variant,p.Ser83Tyr,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	248	158	140	SUCCESS
OR14A16	284532	.	GRCh37	1	247978654	247978654	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	44	84	0	ENST00000357627.1:c.378C>A	p.His126Gln	p.H126Q	ENST00000357627	NM_001001966.1	126	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS31097.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGTGACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000350248	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	tolerated(0.44)	.	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	SNV	OR14A16,missense_variant,p.His126Gln,ENST00000357627,;	378	84	57	SUCCESS
OR2T8	343172	.	GRCh37	1	248085221	248085221	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1193875912	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	49	79	0	ENST00000319968.4:c.902G>T	p.Arg301Met	p.R301M	ENST00000319968	NM_001005522.1	301	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS31100.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAGGTGTA	NONE	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF147,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326225	.	1/1	.	.	.	.	.	.	.	.	COSM680556	1/1	PASS	ENST00000319968	Transcript	.	.	ENSG00000177462	15020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.04)	.	deleterious(0.01)	1	OR2T8_HUMAN	OR2T8	HGNC	.	.	UPI00001999E3	SNV	OR2T8,missense_variant,p.Arg301Met,ENST00000319968,;	902	79	65	SUCCESS
ZMYM1	79830	.	GRCh37	1	35563033	35563033	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	86	234	0	ENST00000359858.4:c.285T>A	p.Ile95=	p.I95=	ENST00000359858	NM_024772.3	95	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS41302.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTCTCCA	NONE	.	.	hmmpanther:PTHR11697:SF88,hmmpanther:PTHR11697,Pfam_domain:PF06467,SMART_domains:SM00746,Superfamily_domains:SSF57716	.	.	ENSP00000362427	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000373330	Transcript	.	.	ENSG00000197056	26253	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM1_HUMAN	ZMYM1	HGNC	Q9H5R2_HUMAN,Q5SW02_HUMAN,Q5SVZ7_HUMAN	.	UPI0000203ED6	SNV	ZMYM1,synonymous_variant,p.%3D,ENST00000417119,;ZMYM1,synonymous_variant,p.%3D,ENST00000373330,;ZMYM1,synonymous_variant,p.%3D,ENST00000359858,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000475654,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000476269,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000488455,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000466390,;	459	234	218	SUCCESS
AGO4	192670	.	GRCh37	1	36292423	36292423	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	23	52	0	ENST00000373210.3:c.835G>T	p.Ala279Ser	p.A279S	ENST00000373210	NM_017629.3	279	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS397.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCCAGT	NONE	.	.	PROSITE_profiles:PS50821,HAMAP:MF_03033,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF26,Gene3D:2.170.260.10,Pfam_domain:PF02170,SMART_domains:SM00949,Superfamily_domains:SSF101690	.	.	ENSP00000362306	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000373210	Transcript	.	.	ENSG00000134698	18424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.497)	.	tolerated(0.08)	.	AGO4_HUMAN	AGO4	HGNC	Q9NXV9_HUMAN	.	UPI00001684D9	SNV	AGO4,missense_variant,p.Ala279Ser,ENST00000373210,;	1080	52	41	SUCCESS
HPDL	84842	.	GRCh37	1	45793225	45793225	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	76	0	ENST00000334815.3:c.405C>T	p.Arg135=	p.R135=	ENST00000334815	NM_032756.2	135	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS519.1	405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGCGCTGG	NONE	.	.	hmmpanther:PTHR11959:SF5,hmmpanther:PTHR11959,Gene3D:3.10.180.10,PIRSF_domain:PIRSF009283,Superfamily_domains:SSF54593	.	.	ENSP00000335060	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334815	Transcript	.	.	ENSG00000186603	28242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPDL_HUMAN	HPDL	HGNC	.	.	UPI000004E83B	SNV	HPDL,synonymous_variant,p.%3D,ENST00000334815,;MUTYH,downstream_gene_variant,,ENST00000372098,;MUTYH,downstream_gene_variant,,ENST00000412971,;MUTYH,downstream_gene_variant,,ENST00000456914,;MUTYH,downstream_gene_variant,,ENST00000531105,;MUTYH,downstream_gene_variant,,ENST00000372110,;MUTYH,downstream_gene_variant,,ENST00000355498,;MUTYH,downstream_gene_variant,,ENST00000372100,;MUTYH,downstream_gene_variant,,ENST00000488731,;MUTYH,downstream_gene_variant,,ENST00000450313,;MUTYH,downstream_gene_variant,,ENST00000372104,;MUTYH,downstream_gene_variant,,ENST00000529984,;MUTYH,downstream_gene_variant,,ENST00000372115,;MUTYH,downstream_gene_variant,,ENST00000529892,;MUTYH,downstream_gene_variant,,ENST00000435155,;MUTYH,downstream_gene_variant,,ENST00000528013,;MUTYH,downstream_gene_variant,,ENST00000354383,;MUTYH,downstream_gene_variant,,ENST00000448481,;MUTYH,downstream_gene_variant,,ENST00000528332,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000467940,;MUTYH,downstream_gene_variant,,ENST00000481571,;MUTYH,downstream_gene_variant,,ENST00000475516,;MUTYH,downstream_gene_variant,,ENST00000470256,;MUTYH,downstream_gene_variant,,ENST00000467459,;MUTYH,downstream_gene_variant,,ENST00000533178,;MUTYH,downstream_gene_variant,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000485271,;MUTYH,downstream_gene_variant,,ENST00000462388,;MUTYH,downstream_gene_variant,,ENST00000461495,;MUTYH,downstream_gene_variant,,ENST00000478796,;MUTYH,downstream_gene_variant,,ENST00000466231,;	681	76	92	SUCCESS
MMACHC	25974	.	GRCh37	1	45966041	45966041	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs761257132	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	44	112	0	ENST00000401061.4:c.37G>T	p.Glu13Ter	p.E13*	ENST00000401061	NM_015506.2	13	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41324.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGAGGAC	NONE	.	.	hmmpanther:PTHR31457	.	.	ENSP00000383840	.	1/4	.	.	.	.	.	.	.	.	rs761257132	1/4	PASS	ENST00000401061	Transcript	.	.	ENSG00000132763	24525	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMAC_HUMAN	MMACHC	HGNC	.	.	UPI00001C1D6D	SNV	MMACHC,stop_gained,p.Glu13Ter,ENST00000401061,;CCDC163P,upstream_gene_variant,,ENST00000490551,;CCDC163P,upstream_gene_variant,,ENST00000432082,;CCDC163P,upstream_gene_variant,,ENST00000488405,;CCDC163P,upstream_gene_variant,,ENST00000486476,;CCDC163P,upstream_gene_variant,,ENST00000502793,;CCDC163P,upstream_gene_variant,,ENST00000515561,;CCDC163P,upstream_gene_variant,,ENST00000415578,;CCDC163P,upstream_gene_variant,,ENST00000514299,;	317	112	109	SUCCESS
ZBTB48	3104	.	GRCh37	1	6642352	6642352	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	76	0	ENST00000377674.4:c.925C>T	p.His309Tyr	p.H309Y	ENST00000377674	NM_001278648.1	309	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS84.1	925	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCCACAAC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF5,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000366902	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000377674	Transcript	.	.	ENSG00000204859	4930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0)	.	ZBT48_HUMAN	ZBTB48	HGNC	Q6LCP1_HUMAN,Q5SY21_HUMAN,Q5SY20_HUMAN,K7EM76_HUMAN	.	UPI000012C932	SNV	ZBTB48,missense_variant,p.His64Tyr,ENST00000488936,;ZBTB48,missense_variant,p.His309Tyr,ENST00000377674,;ZBTB48,missense_variant,p.His309Tyr,ENST00000319084,;TAS1R1,downstream_gene_variant,,ENST00000415267,;TAS1R1,downstream_gene_variant,,ENST00000351136,;ZBTB48,downstream_gene_variant,,ENST00000435905,;TAS1R1,downstream_gene_variant,,ENST00000333172,;TAS1R1,downstream_gene_variant,,ENST00000328191,;TAS1R1,downstream_gene_variant,,ENST00000411823,;ZBTB48,upstream_gene_variant,,ENST00000498342,;ZBTB48,upstream_gene_variant,,ENST00000482360,;ZBTB48,upstream_gene_variant,,ENST00000466813,;	1083	76	58	SUCCESS
ISM1	140862	.	GRCh37	20	13269286	13269286	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	43	0	ENST00000262487.4:c.743G>A	p.Cys248Tyr	p.C248Y	ENST00000262487	NM_080826.1	248	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS46579.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGTGCACTG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR10199,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000262487	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000262487	Transcript	.	.	ENSG00000101230	16213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ISM1_HUMAN	ISM1	HGNC	.	.	UPI00004A0D4C	SNV	ISM1,missense_variant,p.Cys248Tyr,ENST00000262487,;TASP1,intron_variant,,ENST00000539805,;	749	43	60	SUCCESS
NFATC2	4773	.	GRCh37	20	50071174	50071174	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	63	68	0	ENST00000396009.3:c.1760G>A	p.Ser587Asn	p.S587N	ENST00000396009	NM_001258297.1	587	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS13437.1	1760	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGCTGTCT	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00429,Gene3D:2.60.40.10,hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.51)	.	deleterious(0.03)	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,missense_variant,p.Ser587Asn,ENST00000396009,;NFATC2,missense_variant,p.Ser567Asn,ENST00000609943,;NFATC2,missense_variant,p.Ser587Asn,ENST00000371564,;NFATC2,missense_variant,p.Ser368Asn,ENST00000609507,;NFATC2,missense_variant,p.Ser368Asn,ENST00000610033,;NFATC2,missense_variant,p.Ser567Asn,ENST00000414705,;MIR3194,upstream_gene_variant,,ENST00000582236,;	1980	68	109	SUCCESS
PDXK	8566	.	GRCh37	21	45175644	45175644	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	21	0	ENST00000291565.4:c.825A>T	p.Lys275Asn	p.K275N	ENST00000291565	NM_003681.4	275	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS13699.1	825	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GCAAAAGGTAC	NONE	.	.	hmmpanther:PTHR10534:SF0,hmmpanther:PTHR10534,Gene3D:3.40.1190.20,TIGRFAM_domain:TIGR00687,Pfam_domain:PF00294,Superfamily_domains:SSF53613	.	.	ENSP00000291565	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000291565	Transcript	.	.	ENSG00000160209	8819	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.005)	.	tolerated(0.15)	.	PDXK_HUMAN	PDXK	HGNC	G1UI32_HUMAN	.	UPI0000131524	SNV	PDXK,missense_variant,p.Lys247Asn,ENST00000468090,;PDXK,missense_variant,p.Lys235Asn,ENST00000467908,;PDXK,missense_variant,p.Lys275Asn,ENST00000291565,;PDXK,splice_region_variant,,ENST00000468392,;PDXK,splice_region_variant,,ENST00000398078,;PDXK,splice_region_variant,,ENST00000461123,;PDXK,splice_region_variant,,ENST00000343528,;PDXK,downstream_gene_variant,,ENST00000498040,;PDXK,downstream_gene_variant,,ENST00000481512,;PDXK,downstream_gene_variant,,ENST00000398085,;PDXK,downstream_gene_variant,,ENST00000490666,;	1008	21	13	SUCCESS
PCNT	5116	.	GRCh37	21	47856895	47856895	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	37	0	ENST00000359568.5:c.9000A>T	p.Thr3000=	p.T3000=	ENST00000359568	NM_006031.5	3000	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33592.1	9000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGTTAA	NONE	.	.	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932	.	.	ENSP00000352572	.	40/47	.	.	.	.	.	.	.	.	.	40/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,synonymous_variant,p.%3D,ENST00000359568,;PCNT,upstream_gene_variant,,ENST00000418394,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,downstream_gene_variant,,ENST00000482575,;PCNT,upstream_gene_variant,,ENST00000465356,;	9107	37	22	SUCCESS
RIMBP3	85376	.	GRCh37	22	20458090	20458090	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs563786718	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	85	406	1	ENST00000426804.1:c.3212C>A	p.Thr1071Asn	p.T1071N	ENST00000426804	NM_015672.1	1071	aCt/aAt	0	.	T:0.0015	.	T:0	.	T	T/N	protein_coding	YES	CCDS46665.1	3212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAGTTCCC	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	T:0	.	ENSP00000391564	T:0	1/1	.	.	.	.	.	.	.	.	rs563786718,rs776980876	1/1	PASS	ENST00000426804	Transcript	.	T:0.0004	ENSG00000196622	29344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	T:0	tolerated(0.24)	.	RIM3A_HUMAN	RIMBP3	HGNC	.	.	UPI0000237729	SNV	RIMBP3,missense_variant,p.Thr1071Asn,ENST00000426804,;SCARNA17,downstream_gene_variant,,ENST00000516762,;SCARNA18,downstream_gene_variant,,ENST00000516215,;RN7SKP131,upstream_gene_variant,,ENST00000363006,;	3697	407	360	SUCCESS
VPREB3	29802	.	GRCh37	22	24096504	24096504	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	90	0	ENST00000248948.3:c.47C>T	p.Ser16Leu	p.S16L	ENST00000248948	NM_013378.2	16	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS13813.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGACAGG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267:SF133,hmmpanther:PTHR23267	.	.	ENSP00000248948	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000248948	Transcript	.	.	ENSG00000128218	12710	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	deleterious(0)	.	VPRE3_HUMAN	VPREB3	HGNC	.	.	UPI0000049DEB	SNV	VPREB3,missense_variant,p.Ser16Leu,ENST00000398465,;VPREB3,missense_variant,p.Ser16Leu,ENST00000248948,;ZNF70,upstream_gene_variant,,ENST00000341976,;	152	90	67	SUCCESS
PRR14L	253143	.	GRCh37	22	32112941	32112941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	38	190	0	ENST00000327423.6:c.884G>A	p.Gly295Glu	p.G295E	ENST00000327423	NM_173566.2	295	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS13900.2	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCCCATTG	NONE	.	.	hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0	.	.	ENSP00000331845	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000327423	Transcript	.	.	ENSG00000183530	28738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.13)	.	PR14L_HUMAN	PRR14L	HGNC	C9J9V0_HUMAN	.	UPI0000207582	SNV	PRR14L,missense_variant,p.Gly295Glu,ENST00000434485,;PRR14L,missense_variant,p.Gly295Glu,ENST00000397493,;PRR14L,missense_variant,p.Gly295Glu,ENST00000327423,;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,non_coding_transcript_exon_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,upstream_gene_variant,,ENST00000431684,;	1074	190	171	SUCCESS
CSF2RB	1439	.	GRCh37	22	37334154	37334154	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373820480	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	31	0	ENST00000403662.3:c.2304G>T	p.Glu768Asp	p.E768D	ENST00000403662		768	gaG/gaT	0	A:0	.	.	.	.	T	E/D	protein_coding	YES	CCDS13936.1	2304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAGCTCCC	NONE	.	.	PIRSF_domain:PIRSF001956,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22	.	A:0.0001	ENSP00000384053	.	14/14	.	.	.	.	.	.	.	.	rs373820480	14/14	PASS	ENST00000403662	Transcript	.	.	ENSG00000100368	2436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated(0.24)	.	IL3RB_HUMAN	CSF2RB	HGNC	B0QY07_HUMAN	.	UPI0000128C9F	SNV	CSF2RB,missense_variant,p.Glu715Asp,ENST00000536485,;CSF2RB,missense_variant,p.Glu774Asp,ENST00000406230,;CSF2RB,missense_variant,p.Glu768Asp,ENST00000403662,;CSF2RB,missense_variant,p.Glu774Asp,ENST00000262825,;	2526	31	34	SUCCESS
GTPBP1	9567	.	GRCh37	22	39125539	39125539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	61	0	ENST00000216044.5:c.1789G>T	p.Gly597Cys	p.G597C	ENST00000216044	NM_004286.4	597	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS13977.2	1789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGGGCCCC	NONE	.	.	.	.	.	ENSP00000216044	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000216044	Transcript	.	.	ENSG00000100226	4669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	deleterious(0.01)	.	GTPB1_HUMAN	GTPBP1	HGNC	F5H7C0_HUMAN,F5H716_HUMAN,F5H257_HUMAN	.	UPI00005EDDA0	SNV	GTPBP1,missense_variant,p.Gly597Cys,ENST00000216044,;GTPBP1,missense_variant,p.Gly175Cys,ENST00000458073,;GTPBP1,upstream_gene_variant,,ENST00000489527,;GTPBP1,downstream_gene_variant,,ENST00000460605,;GTPBP1,non_coding_transcript_exon_variant,,ENST00000462332,;GTPBP1,upstream_gene_variant,,ENST00000487538,;GTPBP1,downstream_gene_variant,,ENST00000475959,;GTPBP1,upstream_gene_variant,,ENST00000484971,;AL021707.1,upstream_gene_variant,,ENST00000366392,;AL021707.2,upstream_gene_variant,,ENST00000544928,;	2022	61	57	SUCCESS
TUBGCP6	85378	.	GRCh37	22	50656529	50656539	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTCCGTGAG	TTCTCCGTGAG	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	TTCTCCGTGAG	TTCTCCGTGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	38	0	ENST00000248846.5:c.5176_5186del	p.Leu1726GlyfsTer101	p.L1726Gfs*101	ENST00000248846		1726	CTCACGGAGAAg/g	0	.	.	.	.	.	-	LTEK/X	protein_coding	YES	CCDS14087.1	5176-5186	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCGCCTTCTCCGTGAGCAGGC	NONE	.	.	hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32	.	.	ENSP00000248846	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000248846	Transcript	.	.	ENSG00000128159	18127	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCP6_HUMAN	TUBGCP6	HGNC	.	.	UPI000013CC55	deletion	TUBGCP6,splice_acceptor_variant,,ENST00000425018,;TUBGCP6,frameshift_variant,p.Leu1726GlyfsTer101,ENST00000248846,;TUBGCP6,3_prime_UTR_variant,,ENST00000439308,;SELO,downstream_gene_variant,,ENST00000380903,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;	5281-5291	38	29	SUCCESS
MAPK12	6300	.	GRCh37	22	50696359	50696359	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	47	0	ENST00000215659.8:c.314+313G>C		p.*105*	ENST00000215659	NM_002969.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14089.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCGAGCA	NONE	.	.	.	.	.	ENSP00000215659	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000215659	Transcript	.	.	ENSG00000188130	6874	.	.	MODIFIER	3/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MK12_HUMAN	MAPK12	HGNC	.	.	UPI000012F180	SNV	MAPK12,synonymous_variant,p.%3D,ENST00000395778,;MAPK12,intron_variant,,ENST00000215659,;MAPK12,intron_variant,,ENST00000395780,;MAPK12,intron_variant,,ENST00000492218,;MAPK12,intron_variant,,ENST00000497036,;MAPK12,intron_variant,,ENST00000467891,;MAPK12,intron_variant,,ENST00000488504,;MAPK12,intron_variant,,ENST00000482969,;MAPK12,upstream_gene_variant,,ENST00000496942,;MAPK12,upstream_gene_variant,,ENST00000497738,;	.	47	54	SUCCESS
SLC9A4	389015	.	GRCh37	2	103121886	103121912	+	stop_gained,inframe_deletion	Nonsense_Mutation	DEL	TCATCTGCTTCACCCTGGCCTTCTGCC	TCATCTGCTTCACCCTGGCCTTCTGCC	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	TCATCTGCTTCACCCTGGCCTTCTGCC	TCATCTGCTTCACCCTGGCCTTCTGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	43	0	ENST00000295269.4:c.1154_1180del	p.Phe385_Gln394delinsTer	p.F385_Q394delins*	ENST00000295269	NM_001011552.3	385	tTCATCTGCTTCACCCTGGCCTTCTGCCaa/taa	0	.	.	.	.	.	-	FICFTLAFCQ/*	protein_coding	YES	CCDS33264.1	1154-1180	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCCTTCATCTGCTTCACCCTGGCCTTCTGCCAAATC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF103,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840	.	.	ENSP00000295269	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000295269	Transcript	.	.	ENSG00000180251	11077	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SL9A4_HUMAN	SLC9A4	HGNC	.	.	UPI000047F996	deletion	SLC9A4,stop_gained,p.Phe385_Gln394delinsTer,ENST00000295269,;SLC9A4,non_coding_transcript_exon_variant,,ENST00000492154,;	1611-1637	43	37	SUCCESS
ERCC3	2071	.	GRCh37	2	128038082	128038082	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs367552856	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	100	0	ENST00000285398.2:c.1468G>T	p.Glu490Ter	p.E490*	ENST00000285398	NM_000122.1	490	Gaa/Taa	0	T:0	.	.	.	.	A	E/*	protein_coding	YES	CCDS2144.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCGTAGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11274:SF0,hmmpanther:PTHR11274,TIGRFAM_domain:TIGR00603,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540	.	T:0.0001	ENSP00000285398	.	9/15	.	.	.	.	.	.	.	.	rs367552856	9/15	PASS	ENST00000285398	Transcript	.	.	ENSG00000163161	3435	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC3_HUMAN	ERCC3	HGNC	G3V1S1_HUMAN	.	UPI000013900E	SNV	ERCC3,stop_gained,p.Glu426Ter,ENST00000493187,;ERCC3,stop_gained,p.Glu490Ter,ENST00000285398,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;ERCC3,3_prime_UTR_variant,,ENST00000445889,;	1563	100	104	SUCCESS
MAP3K19	80122	.	GRCh37	2	135744289	135744289	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1354845316	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	113	294	1	ENST00000375845.3:c.2153A>G	p.Gln718Arg	p.Q718R	ENST00000375845	NM_025052.3	718	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS2176.2	2153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGAGAA	NONE	.	.	hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	.	.	ENSP00000365005	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious(0.01)	.	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,missense_variant,p.Gln718Arg,ENST00000375845,;MAP3K19,missense_variant,p.Gln108Arg,ENST00000437365,;MAP3K19,missense_variant,p.Gln735Arg,ENST00000392915,;MAP3K19,missense_variant,p.Gln605Arg,ENST00000358371,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000392917,;MAP3K19,intron_variant,,ENST00000375844,;MAP3K19,intron_variant,,ENST00000392918,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	2184	295	285	SUCCESS
ACVR2A	92	.	GRCh37	2	148674983	148674983	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	27	123	0	ENST00000241416.7:c.804A>G	p.Ala268=	p.A268=	ENST00000241416	NM_001616.4	268	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS33301.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCATTTCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	SNV	ACVR2A,synonymous_variant,p.%3D,ENST00000241416,;ACVR2A,synonymous_variant,p.%3D,ENST00000404590,;ACVR2A,synonymous_variant,p.%3D,ENST00000535787,;	1440	123	104	SUCCESS
CYTIP	9595	.	GRCh37	2	158283867	158283867	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	35	87	0	ENST00000264192.3:c.542del	p.Leu181Ter	p.L181*	ENST00000264192	NM_004288.4	181	tTa/ta	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS2204.1	542	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTTTAAAACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF1	.	.	ENSP00000264192	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000264192	Transcript	.	.	ENSG00000115165	9506	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CYTIP_HUMAN	CYTIP	HGNC	C9JSM2_HUMAN,C9JRF8_HUMAN,C9JNN8_HUMAN,B4DWH9_HUMAN	.	UPI0000035D67	deletion	CYTIP,frameshift_variant,p.Leu181Ter,ENST00000264192,;CYTIP,frameshift_variant,p.Leu75Ter,ENST00000540637,;CYTIP,frameshift_variant,p.Leu75Ter,ENST00000418920,;CYTIP,downstream_gene_variant,,ENST00000439355,;CYTIP,downstream_gene_variant,,ENST00000497432,;CYTIP,3_prime_UTR_variant,,ENST00000457793,;	664	87	116	SUCCESS
XIRP2	129446	.	GRCh37	2	168105997	168105997	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	42	122	0	ENST00000409195.1:c.8098del	p.Gln2700LysfsTer19	p.Q2700Kfs*19	ENST00000409195	NM_152381.5	2699	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS42769.1	8095	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTTGCCCCAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	deletion	XIRP2,frameshift_variant,p.Gln2478LysfsTer19,ENST00000409273,;XIRP2,frameshift_variant,p.Gln2700LysfsTer19,ENST00000409195,;XIRP2,frameshift_variant,p.Gln2700LysfsTer19,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8184	122	165	SUCCESS
TTN	7273	.	GRCh37	2	179472259	179472259	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs564121832	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	51	142	0	ENST00000591111.1:c.48233T>A	p.Val16078Glu	p.V16078E	ENST00000591111		16078	gTa/gAa	0	.	G:0	.	G:0	.	T	V/E	protein_coding	YES	CCDS59435.1	53156	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATTACAACA	NONE	by1000G	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	G:0	.	ENSP00000467141	G:0	277/363	.	.	.	.	.	.	.	.	rs564121832	277/363	PASS	ENST00000589042	Transcript	.	G:0.0002	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val8779Glu,ENST00000359218,;TTN,missense_variant,p.Val16078Glu,ENST00000591111,;TTN,missense_variant,p.Val17719Glu,ENST00000589042,;TTN,missense_variant,p.Val15151Glu,ENST00000342992,;TTN,missense_variant,p.Val8846Glu,ENST00000342175,;TTN,missense_variant,p.Val8654Glu,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	53381	142	152	SUCCESS
TTN	7273	.	GRCh37	2	179501228	179501228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	51	139	0	ENST00000591111.1:c.36303G>T	p.Lys12101Asn	p.K12101N	ENST00000591111		12101	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS59435.1	41226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCTTTCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	225/363	.	.	.	.	.	.	.	.	.	225/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys4802Asn,ENST00000359218,;TTN,missense_variant,p.Lys12101Asn,ENST00000591111,;TTN,missense_variant,p.Lys13742Asn,ENST00000589042,;TTN,missense_variant,p.Lys11174Asn,ENST00000342992,;TTN,missense_variant,p.Lys4869Asn,ENST00000342175,;TTN,missense_variant,p.Lys4677Asn,ENST00000460472,;TTN,downstream_gene_variant,,ENST00000426232,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;	41451	139	138	SUCCESS
DNAH7	56171	.	GRCh37	2	196771386	196771387	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	278	101	297	0	ENST00000312428.6:c.4331dup	p.Lys1445GlufsTer13	p.K1445Efs*13	ENST00000312428	NM_018897.2	1444	ctg/ctTg	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS42794.1	4331-4332	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTTCAGGTT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000311273	.	27/65	.	.	.	.	.	.	.	.	.	27/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	insertion	DNAH7,frameshift_variant,p.Lys1445GlufsTer13,ENST00000312428,;DNAH7,upstream_gene_variant,,ENST00000475293,;	4432-4433	297	379	SUCCESS
MATN3	4148	.	GRCh37	2	20202976	20202976	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376404727	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	61	0	ENST00000407540.3:c.862C>T	p.His288Tyr	p.H288Y	ENST00000407540	NM_002381.4	288	Cac/Tac	0	A:0	.	.	.	.	A	H/Y	protein_coding	YES	CCDS46226.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTGGTGCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50026,hmmpanther:PTHR22992:SF15,hmmpanther:PTHR22992,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	A:0.0001	ENSP00000383894	.	3/8	.	.	.	.	.	.	.	.	rs376404727	3/8	PASS	ENST00000407540	Transcript	.	.	ENSG00000132031	6909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.476)	.	tolerated(1)	.	MATN3_HUMAN	MATN3	HGNC	.	.	UPI000012F809	SNV	MATN3,missense_variant,p.His288Tyr,ENST00000407540,;MATN3,intron_variant,,ENST00000421259,;AC079145.4,intron_variant,,ENST00000416575,;	925	61	82	SUCCESS
MYL1	4632	.	GRCh37	2	211179883	211179883	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	22	0	ENST00000352451.3:c.-117T>A		p.*39*	ENST00000352451	NM_079420.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2390.1	.	MUTECT|MUSE	.	TGAAGATGGAC	NONE	.	.	.	.	.	ENSP00000307280	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000352451	Transcript	.	.	ENSG00000168530	7582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYL1_HUMAN	MYL1	HGNC	Q53SD2_HUMAN,Q53R15_HUMAN	.	UPI000013E94F	SNV	MYL1,5_prime_UTR_variant,,ENST00000352451,;	32	22	23	SUCCESS
SPEG	10290	.	GRCh37	2	220326629	220326631	+	inframe_deletion	In_Frame_Del	DEL	CCC	CCC	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	CCC	CCC	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	49	0	ENST00000312358.7:c.2467_2469del	p.Pro823del	p.P823del	ENST00000312358	NM_005876.4	822	agCCCc/agc	0	.	.	.	.	.	-	SP/S	protein_coding	YES	CCDS42824.1	2466-2468	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCAGCCCCATCA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10	.	.	ENSP00000311684	.	7/41	.	.	.	.	.	.	.	.	.	7/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	1	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	deletion	SPEG,inframe_deletion,p.Pro31del,ENST00000396695,;SPEG,inframe_deletion,p.Pro719del,ENST00000396698,;SPEG,inframe_deletion,p.Pro823del,ENST00000312358,;SPEG,5_prime_UTR_variant,,ENST00000396688,;SPEG,5_prime_UTR_variant,,ENST00000396686,;SPEG,5_prime_UTR_variant,,ENST00000396689,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000496786,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000463218,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,non_coding_transcript_exon_variant,,ENST00000475921,;	2598-2600	49	57	SUCCESS
SPEG	10290	.	GRCh37	2	220348586	220348586	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	12	0	ENST00000312358.7:c.6401G>T	p.Gly2134Val	p.G2134V	ENST00000312358	NM_005876.4	2134	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS42824.1	6401	MUTECT|MUSE	.	CCAGGGTGAGG	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	30/41	.	.	.	.	.	.	.	.	.	30/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.806)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Gly2134Val,ENST00000312358,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	6533	12	9	SUCCESS
SPEG	10290	.	GRCh37	2	220354472	220354472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	106	0	ENST00000312358.7:c.8732C>A	p.Pro2911Gln	p.P2911Q	ENST00000312358	NM_005876.4	2911	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS42824.1	8732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCAGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:3.30.200.20	.	.	ENSP00000311684	.	36/41	.	.	.	.	.	.	.	.	.	36/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Pro2911Gln,ENST00000312358,;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	8864	106	80	SUCCESS
SLC4A3	6508	.	GRCh37	2	220500505	220500505	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	53	0	ENST00000317151.3:c.2083C>T	p.His695Tyr	p.H695Y	ENST00000317151		695	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS2446.1	2164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGCACTAC	BUFFER|p.H722N|c.2164C>A|3	.	.	Gene3D:1bzkA00,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15	.	.	ENSP00000362867	.	14/23	.	.	.	.	.	.	.	.	COSM1614423	14/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.63)	1	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,missense_variant,p.His695Tyr,ENST00000373760,;SLC4A3,missense_variant,p.His722Tyr,ENST00000273063,;SLC4A3,missense_variant,p.His695Tyr,ENST00000317151,;SLC4A3,missense_variant,p.His695Tyr,ENST00000358055,;SLC4A3,missense_variant,p.His722Tyr,ENST00000373762,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	2433	53	61	SUCCESS
AGAP1	116987	.	GRCh37	2	237032735	237032735	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	73	0	ENST00000304032.8:c.2543A>G	p.Asn848Ser	p.N848S	ENST00000304032	NM_001037131.2	848	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33408.1	2543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAACAGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000307634	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000304032	Transcript	.	.	ENSG00000157985	16922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.34)	.	AGAP1_HUMAN	AGAP1	HGNC	Q53S93_HUMAN,Q4ZG54_HUMAN,Q4ZG22_HUMAN,F5GXM9_HUMAN	.	UPI00005E1AE1	SNV	AGAP1,missense_variant,p.Asn848Ser,ENST00000304032,;AGAP1,missense_variant,p.Asn250Ser,ENST00000453371,;AGAP1,missense_variant,p.Asn795Ser,ENST00000336665,;AGAP1,missense_variant,p.Asn687Ser,ENST00000428334,;AGAP1,missense_variant,p.Asn1060Ser,ENST00000409538,;AGAP1,downstream_gene_variant,,ENST00000418654,;AGAP1,downstream_gene_variant,,ENST00000466575,;	3123	73	106	SUCCESS
HDAC4	9759	.	GRCh37	2	240056268	240056268	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	47	0	ENST00000345617.3:c.1050C>T	p.Ser350=	p.S350=	ENST00000345617	NM_006037.3	350	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2529.1	1050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAAGGATGG	BUFFER|p.S348L|c.1043C>T|3	.	.	hmmpanther:PTHR10625:SF100,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037911	.	.	ENSP00000264606	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000345617	Transcript	.	.	ENSG00000068024	14063	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC4_HUMAN	HDAC4	HGNC	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN	.	UPI000013D541	SNV	HDAC4,synonymous_variant,p.%3D,ENST00000541256,;HDAC4,synonymous_variant,p.%3D,ENST00000445704,;HDAC4,synonymous_variant,p.%3D,ENST00000345617,;HDAC4,5_prime_UTR_variant,,ENST00000543185,;HDAC4,non_coding_transcript_exon_variant,,ENST00000553145,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,non_coding_transcript_exon_variant,,ENST00000461113,;	1842	47	67	SUCCESS
PDCD1	5133	.	GRCh37	2	242793440	242793440	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	42	0	ENST00000334409.5:c.637C>T	p.Pro213Ser	p.P213S	ENST00000334409	NM_005018.2	213	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS33428.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGGTCCT	NONE	.	.	hmmpanther:PTHR15264	.	.	ENSP00000335062	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000334409	Transcript	.	.	ENSG00000188389	8760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.12)	.	PDCD1_HUMAN	PDCD1	HGNC	E7ER21_HUMAN	.	UPI0000061E11	SNV	PDCD1,missense_variant,p.Pro213Ser,ENST00000334409,;PDCD1,missense_variant,p.Pro105Ser,ENST00000343705,;PDCD1,3_prime_UTR_variant,,ENST00000418831,;	707	42	39	SUCCESS
EFR3B	22979	.	GRCh37	2	25351059	25351060	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	56	0	ENST00000403714.3:c.493_494insG	p.Met165SerfsTer17	p.M165Sfs*17	ENST00000403714	NM_014971.1	165	atg/aGtg	0	.	.	.	.	.	G	M/SX	protein_coding	YES	CCDS46231.1	493-494	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCGAATGTCA	NONE	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF4	.	.	ENSP00000384081	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000403714	Transcript	.	.	ENSG00000084710	29155	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFR3B_HUMAN	EFR3B	HGNC	E7ESK9_HUMAN	.	UPI0000208069	insertion	EFR3B,frameshift_variant,p.Met165SerfsTer17,ENST00000401432,;EFR3B,frameshift_variant,p.Met44SerfsTer17,ENST00000264719,;EFR3B,frameshift_variant,p.Met17SerfsTer17,ENST00000405108,;EFR3B,frameshift_variant,p.Met165SerfsTer17,ENST00000403714,;EFR3B,frameshift_variant,p.Met130SerfsTer17,ENST00000402191,;	676-677	56	80	SUCCESS
C2orf71	0	.	GRCh37	2	29297116	29297116	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	48	0	ENST00000331664.5:c.12A>G	p.Thr4=	p.T4=	ENST00000331664	NM_001029883.2	4	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS42669.1	12	RADIA|MUTECT|MUSE	.	GAAGGTGTACA	NONE	.	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,synonymous_variant,p.%3D,ENST00000331664,;	12	48	44	SUCCESS
LRPPRC	10128	.	GRCh37	2	44162019	44162019	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	rs1330743871	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	42	136	0	ENST00000260665.7:c.2505-2A>T		p.X835_splice	ENST00000260665	NM_133259.3	835		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33189.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTTAGAA	NONE	.	.	.	.	.	ENSP00000260665	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	HIGH	23/37	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,splice_acceptor_variant,,ENST00000260665,;	.	136	101	SUCCESS
PRKCE	5581	.	GRCh37	2	45879477	45879477	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	25	0	ENST00000306156.3:c.238G>T	p.Glu80Ter	p.E80*	ENST00000306156	NM_005400.2	80	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS1824.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGAGCTG	NONE	.	.	Superfamily_domains:SSF49562,PIRSF_domain:PIRSF501106,PIRSF_domain:PIRSF000551,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR24357:SF52,hmmpanther:PTHR24357,PROSITE_profiles:PS50004	.	.	ENSP00000306124	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000306156	Transcript	.	.	ENSG00000171132	9401	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCE_HUMAN	PRKCE	HGNC	Q53RT0_HUMAN,L7RTI5_HUMAN,C9JR22_HUMAN	.	UPI000012DF6B	SNV	PRKCE,stop_gained,p.Glu80Ter,ENST00000306156,;PRKCE,stop_gained,p.Glu80Ter,ENST00000421201,;PRKCE,upstream_gene_variant,,ENST00000462720,;PRKCE,upstream_gene_variant,,ENST00000480453,;	565	25	27	SUCCESS
CNGA3	1261	.	GRCh37	2	99013614	99013614	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs183838250	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	46	0	ENST00000272602.2:c.1981C>A	p.Arg661Ser	p.R661S	ENST00000272602		661	Cgt/Agt	0	.	A:0	.	A:0.0014	.	A	R/S	protein_coding	YES	CCDS2034.1	1981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCGTCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390,Coiled-coils_(Ncoils):Coil	A:0	.	ENSP00000377140	A:0	8/8	.	.	.	.	.	.	.	.	rs183838250	8/8	PASS	ENST00000393504	Transcript	.	A:0.0002	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	A:0	deleterious(0.01)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Arg665Ser,ENST00000409937,;CNGA3,missense_variant,p.Arg661Ser,ENST00000393504,;CNGA3,missense_variant,p.Arg643Ser,ENST00000436404,;CNGA3,missense_variant,p.Arg661Ser,ENST00000272602,;	2398	46	44	SUCCESS
KIAA1211L	0	.	GRCh37	2	99439712	99439712	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	11	0	ENST00000397899.2:c.1024del	p.Ala342ProfsTer157	p.A342Pfs*157	ENST00000397899	NM_207362.2	342	Gcc/cc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS42720.1	1024	INDELOCATOR|VARSCANI	.	GCTCGGCGAGCT	NONE	.	.	hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	.	.	ENSP00000380996	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000397899	Transcript	.	.	ENSG00000196872	33454	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K121L_HUMAN	KIAA1211L	HGNC	.	.	UPI0000E59245	deletion	KIAA1211L,frameshift_variant,p.Ala342ProfsTer157,ENST00000397899,;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;	1356	11	19	SUCCESS
KIAA1407	0	.	GRCh37	3	113724658	113724658	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	64	195	0	ENST00000295878.3:c.1565C>T	p.Thr522Ile	p.T522I	ENST00000295878	NM_020817.1	522	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS2977.1	1565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGTCTTG	NONE	.	.	hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028	.	.	ENSP00000295878	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000295878	Transcript	.	.	ENSG00000163617	29272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	deleterious(0.04)	.	K1407_HUMAN	KIAA1407	HGNC	.	.	UPI00000732E9	SNV	KIAA1407,missense_variant,p.Thr509Ile,ENST00000491000,;KIAA1407,missense_variant,p.Thr353Ile,ENST00000545063,;KIAA1407,missense_variant,p.Thr522Ile,ENST00000295878,;QTRTD1,upstream_gene_variant,,ENST00000472599,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;KIAA1407,upstream_gene_variant,,ENST00000527855,;	1712	195	184	SUCCESS
PODXL2	50512	.	GRCh37	3	127379537	127379537	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs981133722	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	60	0	ENST00000342480.6:c.666T>A	p.His222Gln	p.H222Q	ENST00000342480	NM_015720.3	222	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS3044.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCATGAAGA	NONE	.	.	hmmpanther:PTHR15594	.	.	ENSP00000345359	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342480	Transcript	.	.	ENSG00000114631	17936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.56)	.	PDXL2_HUMAN	PODXL2	HGNC	.	.	UPI000006FC4B	SNV	PODXL2,missense_variant,p.His222Gln,ENST00000342480,;AC023593.1,upstream_gene_variant,,ENST00000408486,;	705	60	78	SUCCESS
MFSD1	64747	.	GRCh37	3	158519925	158519925	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs752128154	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	57	0	ENST00000264266.8:c.-17C>G		p.*6*	ENST00000264266		44		0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS3185.2	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCGTCTC	NONE	.	.	.	.	.	ENSP00000403117	.	1/16	.	.	.	.	.	.	.	.	rs752128154	1/16	PASS	ENST00000415822	Transcript	.	.	ENSG00000118855	25874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.92)	.	MFSD1_HUMAN	MFSD1	HGNC	C9JAC3_HUMAN	.	UPI0001AE7604	SNV	MFSD1,missense_variant,p.Pro44Arg,ENST00000392813,;MFSD1,missense_variant,p.Pro44Arg,ENST00000415822,;MFSD1,5_prime_UTR_variant,,ENST00000264266,;MFSD1,intron_variant,,ENST00000486568,;MFSD1,intron_variant,,ENST00000491804,;MFSD1,intron_variant,,ENST00000465739,;MFSD1,upstream_gene_variant,,ENST00000482835,;MFSD1,upstream_gene_variant,,ENST00000474670,;RP11-379F4.9,upstream_gene_variant,,ENST00000607044,;MFSD1,5_prime_UTR_variant,,ENST00000484166,;MFSD1,5_prime_UTR_variant,,ENST00000480292,;MFSD1,upstream_gene_variant,,ENST00000471266,;MFSD1,upstream_gene_variant,,ENST00000476860,;MFSD1,upstream_gene_variant,,ENST00000471500,;	272	57	70	SUCCESS
SLITRK3	22865	.	GRCh37	3	164908256	164908256	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	77	0	ENST00000241274.3:c.363C>T	p.Phe121=	p.F121=	ENST00000241274	NM_014926.2	121	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS3197.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTGAAAGC	NONE	.	.	hmmpanther:PTHR24373:SF14,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000420091	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000475390	Transcript	.	.	ENSG00000121871	23501	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK3_HUMAN	SLITRK3	HGNC	C9K0R4_HUMAN	.	UPI000004F259	SNV	SLITRK3,synonymous_variant,p.%3D,ENST00000497724,;SLITRK3,synonymous_variant,p.%3D,ENST00000475390,;SLITRK3,synonymous_variant,p.%3D,ENST00000241274,;	807	77	76	SUCCESS
SENP2	59343	.	GRCh37	3	185318578	185318578	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	53	120	0	ENST00000296257.5:c.384del	p.Ser128ArgfsTer8	p.S128Rfs*8	ENST00000296257	NM_021627.2	128	agT/ag	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS33902.1	384	INDELOCATOR*|VARSCANI*|PINDEL	.	AATAAGTGACTA	NONE	.	.	hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF11	.	.	ENSP00000296257	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000296257	Transcript	.	.	ENSG00000163904	23116	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SENP2_HUMAN	SENP2	HGNC	J3KQD2_HUMAN,B4E2S4_HUMAN	.	UPI000007452F	deletion	SENP2,frameshift_variant,p.Ser118ArgfsTer8,ENST00000545472,;SENP2,frameshift_variant,p.Ser128ArgfsTer8,ENST00000296257,;SENP2,frameshift_variant,p.Ser182ArgfsTer8,ENST00000430355,;SENP2,5_prime_UTR_variant,,ENST00000427465,;SENP2,non_coding_transcript_exon_variant,,ENST00000465201,;SENP2,3_prime_UTR_variant,,ENST00000458551,;SENP2,3_prime_UTR_variant,,ENST00000453532,;SENP2,3_prime_UTR_variant,,ENST00000413407,;SENP2,3_prime_UTR_variant,,ENST00000439684,;SENP2,non_coding_transcript_exon_variant,,ENST00000473760,;	624	120	197	SUCCESS
XIRP1	165904	.	GRCh37	3	39228092	39228092	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	35	54	0	ENST00000340369.3:c.2845C>T	p.Pro949Ser	p.P949S	ENST00000340369	NM_194293.2	949	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS2683.1	2845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGGGGGCT	NONE	.	.	hmmpanther:PTHR22591	.	.	ENSP00000343140	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340369	Transcript	.	.	ENSG00000168334	14301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	XIRP1_HUMAN	XIRP1	HGNC	.	.	UPI00001BFB06	SNV	XIRP1,missense_variant,p.Pro949Ser,ENST00000396251,;XIRP1,missense_variant,p.Pro949Ser,ENST00000340369,;XIRP1,intron_variant,,ENST00000421646,;	3074	54	47	SUCCESS
BSN	8927	.	GRCh37	3	49690047	49690048	+	inframe_insertion	In_Frame_Ins	INS	-	-	AGCAGC	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	42	0	ENST00000296452.4:c.3062_3067dup	p.Gln1021_Gln1022dup	p.Q1021_Q1022dup	ENST00000296452	NM_003458.3	1021	aag/aAGCAGCag	0	.	.	.	.	.	AGCAGC	K/KQQ	protein_coding	YES	CCDS2800.1	3058-3059	INDELOCATOR|VARSCANI	.	AAGCAAAGCAG	NONE	.	.	hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	9	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	insertion	BSN,inframe_insertion,p.Gln1021_Gln1022dup,ENST00000296452,;BSN,downstream_gene_variant,,ENST00000467456,;	3172-3173	42	41	SUCCESS
STAB1	23166	.	GRCh37	3	52553354	52553354	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1400286228	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	44	89	0	ENST00000321725.6:c.5109C>A	p.Phe1703Leu	p.F1703L	ENST00000321725	NM_015136.2	1703	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS33768.1	5109	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCATTGA	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50213	.	.	ENSP00000312946	.	49/69	.	.	.	.	.	.	.	.	COSM4119119	49/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.771)	.	deleterious(0.05)	1	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Phe1703Leu,ENST00000321725,;STAB1,upstream_gene_variant,,ENST00000469989,;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;	5185	89	67	SUCCESS
GPR15	2838	.	GRCh37	3	98251158	98251158	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1269440025	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	110	0	ENST00000284311.3:c.281C>A	p.Ala94Glu	p.A94E	ENST00000284311	NM_005290.2	94	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS2931.1	281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCATCTC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24228:SF10,hmmpanther:PTHR24228,PROSITE_profiles:PS50262	.	.	ENSP00000284311	.	1/1	.	.	.	.	.	.	.	.	COSM1580966	1/1	PASS	ENST00000284311	Transcript	.	.	ENSG00000154165	4469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.762)	.	tolerated(0.14)	1	GPR15_HUMAN	GPR15	HGNC	B6V9G9_HUMAN	.	UPI0000000EAC	SNV	GPR15,missense_variant,p.Ala94Glu,ENST00000284311,;CPOX,intron_variant,,ENST00000512905,;	416	110	78	SUCCESS
ADAD1	132612	.	GRCh37	4	123302161	123302161	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	239	88	273	0	ENST00000296513.2:c.187C>A	p.Pro63Thr	p.P63T	ENST00000296513	NM_139243.3	63	Ccg/Acg	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34058.1	187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCGTTG	NONE	.	.	hmmpanther:PTHR10910:SF44,hmmpanther:PTHR10910	.	.	ENSP00000296513	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000296513	Transcript	.	.	ENSG00000164113	30713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.09)	.	ADAD1_HUMAN	ADAD1	HGNC	C9JGM6_HUMAN,C9JAT9_HUMAN	.	UPI000006DF76	SNV	ADAD1,missense_variant,p.Pro63Thr,ENST00000388724,;ADAD1,missense_variant,p.Pro63Thr,ENST00000296513,;ADAD1,missense_variant,p.Pro63Thr,ENST00000439307,;ADAD1,missense_variant,p.Pro63Thr,ENST00000446706,;ADAD1,missense_variant,p.Pro45Thr,ENST00000388725,;ADAD1,non_coding_transcript_exon_variant,,ENST00000492454,;ADAD1,downstream_gene_variant,,ENST00000464160,;	372	273	327	SUCCESS
FAT4	79633	.	GRCh37	4	126367528	126367528	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1463847765	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	85	0	ENST00000394329.3:c.7274G>A	p.Arg2425Lys	p.R2425K	ENST00000394329	NM_024582.4	2425	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS3732.3	7274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGGGAAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	8/17	.	.	.	.	.	.	.	.	.	8/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Arg2425Lys,ENST00000394329,;FAT4,missense_variant,p.Arg723Lys,ENST00000335110,;FAT4,non_coding_transcript_exon_variant,,ENST00000509444,;	7287	85	66	SUCCESS
ABCE1	6059	.	GRCh37	4	146032129	146032129	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	45	107	0	ENST00000296577.4:c.623del	p.His208ProfsTer2	p.H208Pfs*2	ENST00000296577	NM_002940.2	208	cAc/cc	0	.	.	.	.	.	-	H/X	protein_coding	YES	CCDS34071.1	623	INDELOCATOR*|VARSCANI*|PINDEL	.	TAACCCACCTAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19248,PROSITE_profiles:PS50893	.	.	ENSP00000296577	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000296577	Transcript	.	.	ENSG00000164163	69	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCE1_HUMAN	ABCE1	HGNC	D6RGF4_HUMAN,D6R9I9_HUMAN	.	UPI0000001226	deletion	ABCE1,frameshift_variant,p.His208ProfsTer2,ENST00000296577,;ABCE1,frameshift_variant,p.His208ProfsTer2,ENST00000502586,;OTUD4,non_coding_transcript_exon_variant,,ENST00000455611,;ABCE1,intron_variant,,ENST00000506506,;ABCE1,intron_variant,,ENST00000502803,;ABCE1,frameshift_variant,p.His208ProfsTer2,ENST00000507193,;ABCE1,intron_variant,,ENST00000504292,;	1138	107	164	SUCCESS
FBXL5	26234	.	GRCh37	4	15613952	15613952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	83	214	0	ENST00000341285.3:c.1936G>T	p.Asp646Tyr	p.D646Y	ENST00000341285	NM_001193534.1	646	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS3415.1	1936	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATCCTGCA	NONE	.	.	hmmpanther:PTHR23125:SF211,hmmpanther:PTHR23125,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000344866	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000341285	Transcript	.	.	ENSG00000118564	13602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious(0.01)	.	FBXL5_HUMAN	FBXL5	HGNC	D6RHC3_HUMAN,D6RCR7_HUMAN,D6RBW7_HUMAN,D6RB50_HUMAN	.	UPI0000035C83	SNV	FBXL5,missense_variant,p.Asp520Tyr,ENST00000382358,;FBXL5,missense_variant,p.Asp629Tyr,ENST00000412094,;FBXL5,missense_variant,p.Asp567Tyr,ENST00000513163,;FBXL5,missense_variant,p.Asp646Tyr,ENST00000341285,;FBXL5,3_prime_UTR_variant,,ENST00000511441,;FBXL5,non_coding_transcript_exon_variant,,ENST00000507700,;	2061	215	194	SUCCESS
TKTL2	84076	.	GRCh37	4	164394657	164394657	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761348402	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	42	136	0	ENST00000280605.3:c.230G>A	p.Gly77Glu	p.G77E	ENST00000280605	NM_032136.4	77	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS3805.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTCCCCTG	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Gene3D:3.40.50.970,Pfam_domain:PF00456,Superfamily_domains:SSF52518	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	rs761348402	1/1	PASS	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,missense_variant,p.Gly77Glu,ENST00000280605,;	391	136	119	SUCCESS
PALLD	23022	.	GRCh37	4	169825044	169825044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	32	85	0	ENST00000505667.1:c.2609C>A	p.Ala870Asp	p.A870D	ENST00000505667		870	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS54818.1	2609	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGCTGCAA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152,PROSITE_profiles:PS50835	.	.	ENSP00000425556	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000505667	Transcript	1	.	ENSG00000129116	17068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PALLD_HUMAN	PALLD	HGNC	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN	.	UPI000189A85C	SNV	PALLD,missense_variant,p.Ala366Asp,ENST00000507735,;PALLD,missense_variant,p.Ala146Asp,ENST00000393726,;PALLD,missense_variant,p.Ala695Asp,ENST00000335742,;PALLD,missense_variant,p.Ala853Asp,ENST00000261509,;PALLD,missense_variant,p.Ala870Asp,ENST00000505667,;PALLD,missense_variant,p.Ala471Asp,ENST00000512127,;CBR4,intron_variant,,ENST00000509108,;PALLD,non_coding_transcript_exon_variant,,ENST00000513187,;PALLD,non_coding_transcript_exon_variant,,ENST00000511682,;PALLD,non_coding_transcript_exon_variant,,ENST00000507699,;CBR4,intron_variant,,ENST00000510042,;PALLD,downstream_gene_variant,,ENST00000507325,;	2782	85	73	SUCCESS
AADAT	51166	.	GRCh37	4	170991792	170991792	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	64	164	0	ENST00000337664.4:c.666A>G	p.Lys222=	p.K222=	ENST00000337664	NM_016228.3	222	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS3814.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATATTTTCT	NONE	.	.	hmmpanther:PTHR11751:SF294,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383	.	.	ENSP00000336808	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000337664	Transcript	.	.	ENSG00000109576	17929	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AADAT_HUMAN	AADAT	HGNC	Q4W5N8_HUMAN,D6RFY7_HUMAN,D6RC56_HUMAN	.	UPI00000711E6	SNV	AADAT,synonymous_variant,p.%3D,ENST00000353187,;AADAT,synonymous_variant,p.%3D,ENST00000337664,;AADAT,synonymous_variant,p.%3D,ENST00000510340,;AADAT,synonymous_variant,p.%3D,ENST00000509167,;AADAT,synonymous_variant,p.%3D,ENST00000515480,;AADAT,downstream_gene_variant,,ENST00000502392,;AADAT,downstream_gene_variant,,ENST00000507375,;AADAT,non_coding_transcript_exon_variant,,ENST00000505906,;	943	164	149	SUCCESS
APBB2	323	.	GRCh37	4	40892391	40892391	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1415819462	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	61	0	ENST00000295974.8:c.1516G>A	p.Asp506Asn	p.D506N	ENST00000295974	NM_001166050.1	506	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS54762.1	1519	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTCGCGGC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00462,Gene3D:2.30.29.30,Pfam_domain:PF00640,hmmpanther:PTHR14058:SF11,hmmpanther:PTHR14058,PROSITE_profiles:PS01179	.	.	ENSP00000427211	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000508593	Transcript	.	.	ENSG00000163697	582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.784)	.	deleterious(0.01)	.	APBB2_HUMAN	APBB2	HGNC	Q5I0G1_HUMAN,D6RGD4_HUMAN,D6RDY3_HUMAN,D6RD19_HUMAN,D6RB55_HUMAN,D6RB00_HUMAN,D6RAJ4_HUMAN,D6RAE0_HUMAN,A8K1C3_HUMAN	.	UPI0001B8E1D4	SNV	APBB2,missense_variant,p.Asp485Asn,ENST00000513140,;APBB2,missense_variant,p.Asp506Asn,ENST00000295974,;APBB2,missense_variant,p.Asp485Asn,ENST00000506352,;APBB2,missense_variant,p.Asp476Asn,ENST00000513611,;APBB2,missense_variant,p.Asp507Asn,ENST00000508593,;APBB2,missense_variant,p.Asp43Asn,ENST00000513493,;APBB2,missense_variant,p.Asp18Asn,ENST00000512510,;APBB2,non_coding_transcript_exon_variant,,ENST00000507831,;APBB2,non_coding_transcript_exon_variant,,ENST00000514094,;APBB2,non_coding_transcript_exon_variant,,ENST00000509475,;APBB2,downstream_gene_variant,,ENST00000504484,;APBB2,downstream_gene_variant,,ENST00000511120,;	2063	61	52	SUCCESS
SHISA3	152573	.	GRCh37	4	42400220	42400220	+	synonymous_variant	Silent	SNP	C	C	T	rs1229186103	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	51	0	ENST00000319234.4:c.147C>T	p.Asp49=	p.D49=	ENST00000319234	NM_001080505.1	49	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS33979.1	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGACACGCT	NONE	.	.	hmmpanther:PTHR31395:SF4,hmmpanther:PTHR31395,Pfam_domain:PF13908	.	.	ENSP00000326445	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000319234	Transcript	.	.	ENSG00000178343	25159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHSA3_HUMAN	SHISA3	HGNC	.	.	UPI000020BC30	SNV	SHISA3,synonymous_variant,p.%3D,ENST00000319234,;	365	51	67	SUCCESS
PDGFRA	5156	.	GRCh37	4	55133851	55133851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	155	1	ENST00000257290.5:c.1064C>T	p.Thr355Ile	p.T355I	ENST00000257290	NM_006206.4	355	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS3495.1	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGACTCTGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726	.	.	ENSP00000257290	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	deleterious(0.03)	.	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	PDGFRA,missense_variant,p.Thr355Ile,ENST00000257290,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000508170,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,missense_variant,p.Thr355Ile,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	1395	156	124	SUCCESS
FNIP1	96459	.	GRCh37	5	131007517	131007517	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	55	108	0	ENST00000510461.1:c.2620T>A	p.Cys874Ser	p.C874S	ENST00000510461	NM_133372.2	874	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS34227.1	2620	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACACAATA	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12	.	.	ENSP00000421985	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000510461	Transcript	.	.	ENSG00000217128	29418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.25)	.	FNIP1_HUMAN	FNIP1	HGNC	B3KX44_HUMAN	.	UPI00001AEE81	SNV	FNIP1,missense_variant,p.Cys846Ser,ENST00000307968,;FNIP1,missense_variant,p.Cys874Ser,ENST00000510461,;FNIP1,missense_variant,p.Cys829Ser,ENST00000307954,;CTC-432M15.3,intron_variant,,ENST00000514667,;	2716	108	130	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222105	140222105	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1554139135	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	63	174	0	ENST00000531613.1:c.1199C>T	p.Thr400Ile	p.T400I	ENST00000531613	NM_018911.2	400	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS54919.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACCTTCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious_low_confidence(0)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Thr400Ile,ENST00000531613,;PCDHA8,missense_variant,p.Thr400Ile,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	1199	174	169	SUCCESS
PCDHB8	56128	.	GRCh37	5	140558291	140558291	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781998238	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	71	307	0	ENST00000239444.2:c.676A>T	p.Thr226Ser	p.T226S	ENST00000239444	NM_019120.3	226	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4250.1	676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCACTGCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF89,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	rs781998238	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	deleterious_low_confidence(0.04)	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,missense_variant,p.Thr226Ser,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	921	307	265	SUCCESS
SLC6A3	6531	.	GRCh37	5	1422073	1422073	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs6345	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	37	0	ENST00000270349.9:c.710G>A	p.Arg237Gln	p.R237Q	ENST00000270349	NM_001044.4	237	cGg/cAg	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS3863.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCGCGGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	T:0.006	.	ENSP00000270349	T:0	5/15	.	.	.	.	.	.	.	.	rs6345	5/15	PASS	ENST00000270349	Transcript	1	T:0.0012	ENSG00000142319	11049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	T:0	tolerated(0.23)	.	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,missense_variant,p.Arg237Gln,ENST00000270349,;SLC6A3,missense_variant,p.Arg163Gln,ENST00000513308,;SLC6A3,missense_variant,p.Arg237Gln,ENST00000453492,;	838	37	36	SUCCESS
SLC6A3	6531	.	GRCh37	5	1422086	1422086	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	34	0	ENST00000270349.9:c.697C>A	p.Leu233Met	p.L233M	ENST00000270349	NM_001044.4	233	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS3863.1	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGTCGT	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	5/15	.	.	.	.	.	.	.	.	COSM1542428	5/15	PASS	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.706)	.	tolerated(0.12)	1	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,missense_variant,p.Leu233Met,ENST00000270349,;SLC6A3,missense_variant,p.Leu159Met,ENST00000513308,;SLC6A3,missense_variant,p.Leu233Met,ENST00000453492,;	825	34	34	SUCCESS
ZNF300P1	134466	.	GRCh37	5	150322171	150322171	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	42	0	ENST00000520773.1:n.1314C>A		p.*438*	ENST00000520773				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGCATAG	NONE	.	.	.	.	.	.	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000520773	Transcript	.	.	ENSG00000197083	27032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF300P1	HGNC	.	.	.	SNV	ZNF300P1,non_coding_transcript_exon_variant,,ENST00000520773,;ZNF300P1,non_coding_transcript_exon_variant,,ENST00000356555,;	1314	42	53	SUCCESS
IL12B	3593	.	GRCh37	5	158753702	158753702	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	29	65	0	ENST00000231228.2:c.88+1G>A		p.X30_splice	ENST00000231228	NM_002187.2	30		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4346.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTACCATCT	NONE	.	.	.	.	.	ENSP00000231228	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231228	Transcript	1	.	ENSG00000113302	5970	.	.	HIGH	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL12B_HUMAN	IL12B	HGNC	Q8N0X8_HUMAN,A1Z2L5_HUMAN	.	UPI00000358B7	SNV	IL12B,splice_donor_variant,,ENST00000231228,;AC008697.1,intron_variant,,ENST00000521472,;AC008697.1,upstream_gene_variant,,ENST00000515337,;	.	65	100	SUCCESS
DOCK2	1794	.	GRCh37	5	169111319	169111319	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	39	89	0	ENST00000256935.8:c.726G>C	p.Met242Ile	p.M242I	ENST00000256935	NM_004946.2	242	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS4371.1	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATGTCTCT	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	8/52	.	.	.	.	.	.	.	.	.	8/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.09)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Met242Ile,ENST00000256935,;DOCK2,downstream_gene_variant,,ENST00000522138,;DOCK2,missense_variant,p.Met242Ile,ENST00000524185,;	806	89	136	SUCCESS
EIF4E1B	253314	.	GRCh37	5	176070686	176070686	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	67	0	ENST00000318682.6:c.247G>T	p.Asp83Tyr	p.D83Y	ENST00000318682	NM_001099408.1	83	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS47345.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGACAAC	NONE	.	.	Superfamily_domains:SSF55418,Gene3D:3.30.760.10,Pfam_domain:PF01652,hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF3	.	.	ENSP00000323714	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000318682	Transcript	.	.	ENSG00000175766	33179	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	I4E1B_HUMAN	EIF4E1B	HGNC	D6RHE2_HUMAN	.	UPI0001572CC7	SNV	EIF4E1B,missense_variant,p.Asp83Tyr,ENST00000510660,;EIF4E1B,missense_variant,p.Asp83Tyr,ENST00000318682,;EIF4E1B,missense_variant,p.Asp24Tyr,ENST00000505497,;EIF4E1B,missense_variant,p.Asp83Tyr,ENST00000504597,;TSPAN17,upstream_gene_variant,,ENST00000503045,;TSPAN17,upstream_gene_variant,,ENST00000508164,;TSPAN17,upstream_gene_variant,,ENST00000507471,;TSPAN17,upstream_gene_variant,,ENST00000310032,;TSPAN17,upstream_gene_variant,,ENST00000298564,;TSPAN17,upstream_gene_variant,,ENST00000515708,;TSPAN17,upstream_gene_variant,,ENST00000504168,;TSPAN17,upstream_gene_variant,,ENST00000405525,;EIF4E1B,downstream_gene_variant,,ENST00000510473,;EIF4E1B,upstream_gene_variant,,ENST00000512734,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000515458,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000503895,;TSPAN17,upstream_gene_variant,,ENST00000503030,;TSPAN17,upstream_gene_variant,,ENST00000514705,;	831	67	80	SUCCESS
DBN1	1627	.	GRCh37	5	176893949	176893949	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747285882	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	29	0	ENST00000309007.5:c.670C>T	p.Arg224Cys	p.R224C	ENST00000309007	NM_004395.3	224	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4421.1	676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCGCCGCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829	.	.	ENSP00000292385	.	8/15	.	.	.	.	.	.	.	.	rs747285882	8/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Arg224Cys,ENST00000309007,;DBN1,missense_variant,p.Arg226Cys,ENST00000292385,;DBN1,missense_variant,p.Arg223Cys,ENST00000477391,;DBN1,missense_variant,p.Arg224Cys,ENST00000393565,;DBN1,downstream_gene_variant,,ENST00000506117,;DBN1,upstream_gene_variant,,ENST00000393563,;DBN1,upstream_gene_variant,,ENST00000512501,;DBN1,downstream_gene_variant,,ENST00000514833,;DBN1,non_coding_transcript_exon_variant,,ENST00000471767,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,downstream_gene_variant,,ENST00000505550,;	1286	29	29	SUCCESS
IRX1	79192	.	GRCh37	5	3596419	3596419	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs752014452	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	24	0	ENST00000302006.3:c.200del	p.Ala67GlyfsTer32	p.A67Gfs*32	ENST00000302006	NM_024337.3	67	gCg/gg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS34132.1	200	INDELOCATOR|VARSCANI	.	CGGCGGCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,Low_complexity_(Seg):seg	.	.	ENSP00000305244	.	1/4	.	.	.	.	.	.	.	.	rs752014452	1/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	deletion	IRX1,frameshift_variant,p.Ala67GlyfsTer32,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	252	24	32	SUCCESS
WDR70	55100	.	GRCh37	5	37379416	37379416	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs558310846	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	57	141	0	ENST00000265107.4:c.-54C>T		p.*18*	ENST00000265107	NM_018034.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34147.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCCCCTGC	NONE	.	.	.	.	.	ENSP00000265107	.	1/18	.	.	.	.	.	.	.	.	rs558310846	1/18	PASS	ENST00000265107	Transcript	.	.	ENSG00000082068	25495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR70_HUMAN	WDR70	HGNC	.	.	UPI0000049FC2	SNV	WDR70,5_prime_UTR_variant,,ENST00000265107,;WDR70,5_prime_UTR_variant,,ENST00000504564,;WDR70,non_coding_transcript_exon_variant,,ENST00000505799,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;RP11-648M2.1,downstream_gene_variant,,ENST00000514638,;	103	141	172	SUCCESS
CAST	831	.	GRCh37	5	96083056	96083056	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	72	297	0	ENST00000341926.3:c.1043A>G	p.Asp348Gly	p.D348G	ENST00000341926		348	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS54882.1	1169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGATGGAA	NONE	.	.	hmmpanther:PTHR10077,hmmpanther:PTHR10077:SF0,Pfam_domain:PF00748	.	.	ENSP00000379157	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000395812	Transcript	.	.	ENSG00000153113	1515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	deleterious(0)	.	ICAL_HUMAN	CAST	HGNC	E7EQ12_HUMAN	.	UPI0000DA4C59	SNV	CAST,missense_variant,p.Asp394Gly,ENST00000508608,;CAST,missense_variant,p.Asp431Gly,ENST00000395813,;CAST,missense_variant,p.Asp334Gly,ENST00000511049,;CAST,missense_variant,p.Asp63Gly,ENST00000508579,;CAST,missense_variant,p.Asp431Gly,ENST00000508830,;CAST,missense_variant,p.Asp396Gly,ENST00000325674,;CAST,missense_variant,p.Asp409Gly,ENST00000510756,;CAST,missense_variant,p.Asp334Gly,ENST00000511782,;CAST,missense_variant,p.Asp348Gly,ENST00000510156,;CAST,missense_variant,p.Asp412Gly,ENST00000359176,;CAST,missense_variant,p.Asp390Gly,ENST00000395812,;CAST,missense_variant,p.Asp326Gly,ENST00000309190,;CAST,missense_variant,p.Asp313Gly,ENST00000509903,;CAST,missense_variant,p.Asp348Gly,ENST00000341926,;CAST,missense_variant,p.Asp63Gly,ENST00000503828,;CAST,missense_variant,p.Asp106Gly,ENST00000510500,;CAST,missense_variant,p.Asp335Gly,ENST00000338252,;CAST,missense_variant,p.Asp100Gly,ENST00000437034,;CAST,missense_variant,p.Asp71Gly,ENST00000515663,;CAST,missense_variant,p.Asp276Gly,ENST00000504465,;CAST,missense_variant,p.Asp35Gly,ENST00000509259,;CAST,downstream_gene_variant,,ENST00000511097,;CTC-506B8.1,upstream_gene_variant,,ENST00000502568,;CAST,non_coding_transcript_exon_variant,,ENST00000348386,;CAST,missense_variant,p.Asp91Gly,ENST00000484552,;CAST,non_coding_transcript_exon_variant,,ENST00000513666,;CAST,non_coding_transcript_exon_variant,,ENST00000512191,;	1355	297	260	SUCCESS
OR5V1	81696	.	GRCh37	6	29323327	29323327	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	37	0	ENST00000377154.1:c.646C>G	p.Leu216Val	p.L216V	ENST00000377154		216	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4657.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGTACGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF0,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366359	.	4/4	.	.	.	.	.	.	.	.	COSM360980	4/4	PASS	ENST00000377154	Transcript	.	.	ENSG00000243729	13972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.058)	.	tolerated(1)	1	OR5V1_HUMAN	OR5V1	HGNC	.	.	UPI000004186B	SNV	OR5V1,missense_variant,p.Leu216Val,ENST00000543825,;OR5V1,missense_variant,p.Leu216Val,ENST00000377154,;	946	37	33	SUCCESS
UBD	10537	.	GRCh37	6	29524084	29524084	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	22	79	0	ENST00000377050.4:c.71C>G	p.Ala24Gly	p.A24G	ENST00000377050	NM_006398.3	24	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS4662.1	71	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGGCATCA	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF5,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000366249	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377050	Transcript	.	.	ENSG00000213886	18795	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	UBD_HUMAN	UBD	HGNC	.	.	UPI000006F505	SNV	UBD,missense_variant,p.Ala24Gly,ENST00000377050,;GABBR1,3_prime_UTR_variant,,ENST00000355973,;OR2I1P,downstream_gene_variant,,ENST00000453522,;OR2I1P,downstream_gene_variant,,ENST00000449341,;	295	79	66	SUCCESS
TRIM39	56658	.	GRCh37	6	30298592	30298593	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	57	0	ENST00000376656.4:c.489_490del	p.Lys164AlafsTer11	p.K164Afs*11	ENST00000376656	NM_021253.3	163	cAG/c	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS34377.1	488-489	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGAACAGAAGCT	NONE	.	.	hmmpanther:PTHR24103:SF41,hmmpanther:PTHR24103	.	.	ENSP00000365844	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000376656	Transcript	.	.	ENSG00000204599	10065	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI39_HUMAN	TRIM39	HGNC	A2AAZ5_HUMAN,A2AAZ4_HUMAN,A2AAZ3_HUMAN,A2AAZ2_HUMAN	.	UPI000013D097	deletion	TRIM39,frameshift_variant,p.Lys94AlafsTer11,ENST00000420746,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000376659,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000540416,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000396551,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000396547,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000428728,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000376656,;TRIM39-RPP21,frameshift_variant,p.Lys76AlafsTer11,ENST00000513556,;TRIM39,frameshift_variant,p.Lys164AlafsTer11,ENST00000396548,;TRIM39,downstream_gene_variant,,ENST00000440271,;TRIM39,downstream_gene_variant,,ENST00000428555,;TRIM39,downstream_gene_variant,,ENST00000428404,;TRIM39,downstream_gene_variant,,ENST00000458516,;HCG17,upstream_gene_variant,,ENST00000453558,;HCG18,upstream_gene_variant,,ENST00000438412,;HCG18,upstream_gene_variant,,ENST00000449544,;HCG18,upstream_gene_variant,,ENST00000454129,;HCG18,upstream_gene_variant,,ENST00000602550,;HCG18,upstream_gene_variant,,ENST00000426882,;HCG18,upstream_gene_variant,,ENST00000454269,;HCG18,upstream_gene_variant,,ENST00000413358,;HCG18,upstream_gene_variant,,ENST00000412685,;HCG18,upstream_gene_variant,,ENST00000602290,;HCG18,upstream_gene_variant,,ENST00000444126,;HCG18,upstream_gene_variant,,ENST00000602498,;	800-801	57	74	SUCCESS
HLA-DMA	3108	.	GRCh37	6	32918508	32918508	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	42	0	ENST00000374843.4:c.161G>A	p.Ser54Asn	p.S54N	ENST00000374843	NM_006120.3	54	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS4761.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACTCCCA	NONE	.	.	Superfamily_domains:SSF54452,SMART_domains:SM00920,Pfam_domain:PF00993,Gene3D:3.10.320.10,hmmpanther:PTHR19944:SF13,hmmpanther:PTHR19944	.	.	ENSP00000363976	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000374843	Transcript	.	.	ENSG00000204257	4934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.29)	.	DMA_HUMAN	HLA-DMA	HGNC	Q6ICR9_HUMAN,Q31604_HUMAN,F6S093_HUMAN	.	UPI000006F879	SNV	HLA-DMA,missense_variant,p.Ser21Asn,ENST00000422832,;HLA-DMA,missense_variant,p.Ser54Asn,ENST00000395303,;HLA-DMA,missense_variant,p.Ser84Asn,ENST00000456800,;HLA-DMA,missense_variant,p.Ser54Asn,ENST00000374843,;HLA-DMA,intron_variant,,ENST00000395305,;XXbac-BPG181M17.5,intron_variant,,ENST00000429234,;HLA-DMA,intron_variant,,ENST00000464392,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000477541,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000475627,;HLA-DMA,upstream_gene_variant,,ENST00000480785,;	247	42	42	SUCCESS
DEF6	50619	.	GRCh37	6	35285774	35285774	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs764573391	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	68	0	ENST00000316637.5:c.914C>T	p.Ala305Val	p.A305V	ENST00000316637	NM_022047.3	305	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4802.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCTGGTG	NONE	byFrequency	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000319831	.	6/11	.	.	.	.	.	.	.	.	rs764573391	6/11	PASS	ENST00000316637	Transcript	.	.	ENSG00000023892	2760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.84)	.	DEFI6_HUMAN	DEF6	HGNC	.	.	UPI000006E74E	SNV	DEF6,missense_variant,p.Ala305Val,ENST00000316637,;DEF6,missense_variant,p.Ala50Val,ENST00000542066,;DEF6,splice_region_variant,,ENST00000468102,;	919	68	52	SUCCESS
LRFN2	57497	.	GRCh37	6	40360374	40360374	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	47	0	ENST00000338305.6:c.1678T>A	p.Cys560Ser	p.C560S	ENST00000338305	NM_020737.1	560	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS34443.1	1678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCAGACCT	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	.	ENSP00000345985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.12)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Cys560Ser,ENST00000338305,;	2221	47	45	SUCCESS
TFEB	7942	.	GRCh37	6	41658400	41658400	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	24	0	ENST00000230323.4:c.468+1G>A		p.X156_splice	ENST00000230323	NM_007162.2	156		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4858.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCTCCC	NONE	.	.	.	.	.	ENSP00000230323	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000230323	Transcript	.	.	ENSG00000112561	11753	.	.	HIGH	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFEB_HUMAN	TFEB	HGNC	Q86WB1_HUMAN,Q709A9_HUMAN,Q709A8_HUMAN,B1AKB4_HUMAN,B1AKB2_HUMAN,B1AKB1_HUMAN,B1AKA9_HUMAN	.	UPI0000001615	SNV	TFEB,splice_donor_variant,,ENST00000416140,;TFEB,splice_donor_variant,,ENST00000358871,;TFEB,splice_donor_variant,,ENST00000230323,;TFEB,splice_donor_variant,,ENST00000419574,;TFEB,splice_donor_variant,,ENST00000403298,;TFEB,splice_donor_variant,,ENST00000373033,;TFEB,splice_donor_variant,,ENST00000394283,;TFEB,splice_donor_variant,,ENST00000419396,;TFEB,splice_donor_variant,,ENST00000343317,;TFEB,intron_variant,,ENST00000420312,;TFEB,intron_variant,,ENST00000406563,;AL035588.1,downstream_gene_variant,,ENST00000597468,;TFEB,downstream_gene_variant,,ENST00000424495,;TFEB,downstream_gene_variant,,ENST00000433032,;TFEB,downstream_gene_variant,,ENST00000445700,;TFEB,downstream_gene_variant,,ENST00000445214,;TFEB,downstream_gene_variant,,ENST00000425401,;TFEB,upstream_gene_variant,,ENST00000494822,;	.	24	17	SUCCESS
PGC	5225	.	GRCh37	6	41712472	41712472	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	50	1	ENST00000373025.3:c.134C>T	p.Thr45Ile	p.T45I	ENST00000373025	NM_002630.3	45	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4859.1	134	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGTCCTC	NONE	.	.	hmmpanther:PTHR13683:SF242,hmmpanther:PTHR13683,Pfam_domain:PF07966,Superfamily_domains:SSF50630	.	.	ENSP00000362116	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000373025	Transcript	.	.	ENSG00000096088	8890	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.131)	.	tolerated(0.1)	.	PEPC_HUMAN	PGC	HGNC	.	.	UPI00001315CC	SNV	PGC,missense_variant,p.Thr45Ile,ENST00000373025,;PGC,missense_variant,p.Thr49Ile,ENST00000415707,;PGC,missense_variant,p.Thr45Ile,ENST00000356667,;PGC,missense_variant,p.Thr45Ile,ENST00000425343,;	197	51	42	SUCCESS
TCTE1	202500	.	GRCh37	6	44254246	44254246	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	79	0	ENST00000371505.4:c.301C>G	p.Leu101Val	p.L101V	ENST00000371505	NM_182539.3	101	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4910.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGAGCATCT	NONE	.	.	hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2	.	.	ENSP00000360560	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000371505	Transcript	.	.	ENSG00000146221	11693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.08)	.	TCTE1_HUMAN	TCTE1	HGNC	.	.	UPI0000160BC0	SNV	TCTE1,missense_variant,p.Leu101Val,ENST00000371505,;TCTE1,5_prime_UTR_variant,,ENST00000371503,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,upstream_gene_variant,,ENST00000371504,;RP11-444E17.6,intron_variant,,ENST00000505802,;	424	79	67	SUCCESS
DEFB114	245928	.	GRCh37	6	49928115	49928115	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs533824519	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	48	122	0	ENST00000322066.3:c.100G>C	p.Gly34Arg	p.G34R	ENST00000322066	NM_001037499.1	34	Ggt/Cgt	0	.	T:0	.	T:0	.	G	G/R	protein_coding	YES	CCDS34474.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACCGTAAC	NONE	by1000G	.	Pfam_domain:PF13841,Gene3D:3.10.360.10	T:0	.	ENSP00000312702	T:0	2/2	.	.	.	.	.	.	.	.	rs533824519	2/2	PASS	ENST00000322066	Transcript	.	T:0.0002	ENSG00000177684	18095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	T:0.001	deleterious_low_confidence(0)	.	DB114_HUMAN	DEFB114	HGNC	.	.	UPI00005E4A73	SNV	DEFB114,missense_variant,p.Gly34Arg,ENST00000322066,;	100	122	111	SUCCESS
PLOD3	8985	.	GRCh37	7	100855190	100855190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	36	27	1	ENST00000223127.3:c.1169G>T	p.Ser390Ile	p.S390I	ENST00000223127	NM_001084.4	390	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS5715.1	1169	SOMATICSNIPER|VARSCANS	.	CCAGGCTGAAG	NONE	.	.	Superfamily_domains:SSF53448,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF7	.	.	ENSP00000223127	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000223127	Transcript	.	.	ENSG00000106397	9083	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.04)	.	deleterious(0.03)	.	PLOD3_HUMAN	PLOD3	HGNC	C9JIX5_HUMAN	.	UPI0000046664	SNV	PLOD3,missense_variant,p.Ser390Ile,ENST00000223127,;PLOD3,missense_variant,p.Ser181Ile,ENST00000421736,;PLOD3,downstream_gene_variant,,ENST00000414785,;PLOD3,downstream_gene_variant,,ENST00000456079,;PLOD3,upstream_gene_variant,,ENST00000454310,;PLOD3,missense_variant,p.Ser3Ile,ENST00000440925,;PLOD3,non_coding_transcript_exon_variant,,ENST00000463479,;PLOD3,non_coding_transcript_exon_variant,,ENST00000460475,;PLOD3,non_coding_transcript_exon_variant,,ENST00000478082,;PLOD3,downstream_gene_variant,,ENST00000478264,;PLOD3,upstream_gene_variant,,ENST00000466881,;PLOD3,upstream_gene_variant,,ENST00000460132,;PLOD3,upstream_gene_variant,,ENST00000487563,;PLOD3,downstream_gene_variant,,ENST00000424135,;PLOD3,downstream_gene_variant,,ENST00000489927,;	1568	28	52	SUCCESS
CFTR	1080	.	GRCh37	7	117234997	117234997	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	385	66	194	1	ENST00000003084.6:c.2504A>T	p.Asp835Val	p.D835V	ENST00000003084	NM_000492.3	835	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS5773.1	2504	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGATGATA	NONE	.	.	hmmpanther:PTHR24223:SF19,hmmpanther:PTHR24223,Pfam_domain:PF14396,TIGRFAM_domain:TIGR01271	.	.	ENSP00000003084	.	15/27	.	.	.	.	.	.	.	.	.	15/27	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,missense_variant,p.Asp805Val,ENST00000426809,;CFTR,missense_variant,p.Asp774Val,ENST00000454343,;CFTR,missense_variant,p.Asp835Val,ENST00000003084,;	2636	196	452	SUCCESS
CPED1	79974	.	GRCh37	7	120901733	120901733	+	intron_variant	Intron	DEL	C	C	-	rs747827097	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	440	43	111	0	ENST00000310396.5:c.2311-4548del		p.*771*	ENST00000310396	NM_024913.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34739.1	.	INDELOCATOR|VARSCANI	.	AAGACACAATCC	NONE	byFrequency	.	.	.	.	ENSP00000309772	.	.	.	.	.	.	.	.	.	.	rs747827097	.	PASS	ENST00000310396	Transcript	.	.	ENSG00000106034	26159	.	.	MODIFIER	18/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPED1_HUMAN	CPED1	HGNC	Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN	.	UPI000013C813	deletion	CPED1,3_prime_UTR_variant,,ENST00000423795,;CPED1,3_prime_UTR_variant,,ENST00000450913,;CPED1,intron_variant,,ENST00000310396,;CPED1,non_coding_transcript_exon_variant,,ENST00000466055,;	.	111	483	SUCCESS
RAB19	401409	.	GRCh37	7	140111745	140111745	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs375880877	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	36	0	ENST00000356407.3:c.273C>G	p.His91Gln	p.H91Q	ENST00000356407		91	caC/caG	0	T:0	.	.	.	.	G	H/Q	protein_coding	YES	CCDS34762.2	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACGCAGC	CODON|p.A139T|c.415G>A|3	byCluster	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF391,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540	.	T:0.0001	ENSP00000440167	.	3/4	.	.	.	.	.	.	.	.	rs375880877	3/4	PASS	ENST00000537763	Transcript	.	.	ENSG00000146955	19982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious(0.04)	.	RAB19_HUMAN	RAB19	HGNC	C9JJQ5_HUMAN	.	UPI000013DA89	SNV	RAB19,missense_variant,p.His91Gln,ENST00000495590,;RAB19,missense_variant,p.His91Gln,ENST00000537763,;RAB19,missense_variant,p.His138Gln,ENST00000275874,;RAB19,missense_variant,p.His91Gln,ENST00000356407,;	471	36	43	SUCCESS
ZNF862	643641	.	GRCh37	7	149558298	149558298	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	69	0	ENST00000223210.4:c.2049C>A	p.Ile683=	p.I683=	ENST00000223210	NM_001099220.1	683	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS47741.1	2049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCCCCTT	NONE	.	.	hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF43,Superfamily_domains:SSF53098	.	.	ENSP00000223210	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000223210	Transcript	.	.	ENSG00000106479	34519	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN862_HUMAN	ZNF862	HGNC	C9JB70_HUMAN	.	UPI000016105C	SNV	ZNF862,synonymous_variant,p.%3D,ENST00000223210,;RP4-751H13.7,non_coding_transcript_exon_variant,,ENST00000608963,;ZNF862,downstream_gene_variant,,ENST00000478024,;	2294	70	68	SUCCESS
LMBR1	64327	.	GRCh37	7	156619307	156619308	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	59	0	ENST00000353442.5:c.310dup	p.Leu104ProfsTer70	p.L104Pfs*70	ENST00000353442	NM_022458.3	104	ctg/cCtg	0	.	.	.	.	.	G	L/PX	protein_coding	YES	CCDS5945.1	310-311	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATCAGGGAG	NONE	.	.	hmmpanther:PTHR12625:SF1,hmmpanther:PTHR12625,Pfam_domain:PF04791	.	.	ENSP00000326604	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000353442	Transcript	.	.	ENSG00000105983	13243	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMBR1_HUMAN	LMBR1	HGNC	Q7LDY5_HUMAN	.	UPI000005340E	insertion	LMBR1,frameshift_variant,p.Leu83ProfsTer70,ENST00000540390,;LMBR1,frameshift_variant,p.Leu102ProfsTer70,ENST00000415428,;LMBR1,frameshift_variant,p.Leu104ProfsTer70,ENST00000353442,;LMBR1,frameshift_variant,p.Leu104ProfsTer70,ENST00000354505,;LMBR1,non_coding_transcript_exon_variant,,ENST00000461469,;LMBR1,non_coding_transcript_exon_variant,,ENST00000498034,;LMBR1,intron_variant,,ENST00000430278,;LMBR1,downstream_gene_variant,,ENST00000433968,;LMBR1,3_prime_UTR_variant,,ENST00000434453,;LMBR1,3_prime_UTR_variant,,ENST00000434278,;LMBR1,3_prime_UTR_variant,,ENST00000414218,;LMBR1,3_prime_UTR_variant,,ENST00000444719,;LMBR1,3_prime_UTR_variant,,ENST00000454132,;LMBR1,intron_variant,,ENST00000434503,;	547-548	59	72	SUCCESS
CCZ1	51622	.	GRCh37	7	5944735	5944735	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772144601	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	355	185	645	0	ENST00000325974.6:c.533C>T	p.Thr178Met	p.T178M	ENST00000325974	NM_015622.5	178	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS34597.1	533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAACGCTAC	NONE	byFrequency	.	Pfam_domain:PF08217,hmmpanther:PTHR13056	.	.	ENSP00000325681	.	7/15	.	.	.	.	.	.	.	.	rs772144601	7/15	PASS	ENST00000325974	Transcript	.	.	ENSG00000122674	21691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	deleterious(0)	.	CCZ1_HUMAN	CCZ1	HGNC	Q7L8P3_HUMAN,F5H553_HUMAN	.	UPI000006CEFF	SNV	CCZ1,missense_variant,p.Thr35Met,ENST00000537980,;CCZ1,missense_variant,p.Thr178Met,ENST00000325974,;CCZ1,non_coding_transcript_exon_variant,,ENST00000483394,;CCZ1,downstream_gene_variant,,ENST00000461592,;CCZ1,downstream_gene_variant,,ENST00000478672,;	599	645	540	SUCCESS
ZNF107	51427	.	GRCh37	7	64166839	64166839	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs201422104	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	62	171	0	ENST00000344930.3:c.157G>T	p.Glu53Ter	p.E53*	ENST00000344930	NM_001013746.1	53	Gag/Tag	0	A:0.0009	.	.	.	.	T	E/*	protein_coding	YES	CCDS5527.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGAGTGT	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000378789	.	4/4	.	.	.	.	.	.	.	.	rs201422104	4/4	PASS	ENST00000395391	Transcript	.	.	ENSG00000196247	12887	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN107_HUMAN	ZNF107	HGNC	Q9H3U2_HUMAN,C9JSF9_HUMAN	.	UPI000000DBC2	SNV	ZNF107,stop_gained,p.Glu53Ter,ENST00000344930,;ZNF107,stop_gained,p.Glu53Ter,ENST00000395391,;ZNF107,stop_gained,p.Glu53Ter,ENST00000423627,;ZNF107,stop_gained,p.Glu53Ter,ENST00000360117,;	1532	171	192	SUCCESS
DAGLB	221955	.	GRCh37	7	6474591	6474591	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	58	0	ENST00000297056.6:c.480G>A	p.Gly160=	p.G160=	ENST00000297056	NM_139179.3	160	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5350.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCCCCCC	NONE	.	.	hmmpanther:PTHR21493:SF8,hmmpanther:PTHR21493	.	.	ENSP00000297056	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000297056	Transcript	.	.	ENSG00000164535	28923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGLB_HUMAN	DAGLB	HGNC	E7ET49_HUMAN,B3KR38_HUMAN	.	UPI000006E01F	SNV	DAGLB,synonymous_variant,p.%3D,ENST00000428902,;DAGLB,synonymous_variant,p.%3D,ENST00000297056,;DAGLB,synonymous_variant,p.%3D,ENST00000436575,;DAGLB,intron_variant,,ENST00000421761,;DAGLB,intron_variant,,ENST00000425398,;DAGLB,intron_variant,,ENST00000432248,;DAGLB,downstream_gene_variant,,ENST00000479922,;DAGLB,intron_variant,,ENST00000454738,;	650	58	65	SUCCESS
CCDC146	57639	.	GRCh37	7	76889445	76889445	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	137	27	130	0	ENST00000285871.4:c.878A>T	p.Glu293Val	p.E293V	ENST00000285871	NM_020879.2	293	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34671.1	878	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGAAGTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	.	.	ENSP00000285871	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000285871	Transcript	.	.	ENSG00000135205	29296	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.702)	.	deleterious(0)	.	CC146_HUMAN	CCDC146	HGNC	Q7Z4Q3_HUMAN	.	UPI000020F44F	SNV	CCDC146,missense_variant,p.Glu293Val,ENST00000285871,;CCDC146,missense_variant,p.Glu39Val,ENST00000431197,;AC073635.5,upstream_gene_variant,,ENST00000476561,;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,downstream_gene_variant,,ENST00000461882,;	1005	130	164	SUCCESS
SEMA3E	9723	.	GRCh37	7	83014738	83014738	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	61	201	0	ENST00000307792.3:c.1747G>T	p.Asp583Tyr	p.D583Y	ENST00000307792	NM_012431.2	583	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34674.1	1747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATCCAAAG	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22	.	.	ENSP00000303212	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000307792	Transcript	.	.	ENSG00000170381	10727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	deleterious(0.01)	.	SEM3E_HUMAN	SEMA3E	HGNC	F8WCZ5_HUMAN,C9JVH5_HUMAN	.	UPI0000135A68	SNV	SEMA3E,missense_variant,p.Asp523Tyr,ENST00000427262,;SEMA3E,missense_variant,p.Asp583Tyr,ENST00000307792,;	2215	201	243	SUCCESS
ANKIB1	54467	.	GRCh37	7	92015870	92015870	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	214	47	178	0	ENST00000265742.3:c.1665T>G	p.His555Gln	p.H555Q	ENST00000265742	NM_019004.1	555	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS47639.1	1665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATAGTTC	NONE	.	.	hmmpanther:PTHR11685:SF95,hmmpanther:PTHR11685,Pfam_domain:PF01485,SMART_domains:SM00647,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000265742	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000265742	Transcript	.	.	ENSG00000001629	22215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AKIB1_HUMAN	ANKIB1	HGNC	Q4VBX8_HUMAN,C9JZ63_HUMAN	.	UPI00001C1E7C	SNV	ANKIB1,missense_variant,p.His555Gln,ENST00000265742,;ANKIB1,missense_variant,p.Ile29Arg,ENST00000422095,;	2041	178	261	SUCCESS
CYP3A43	64816	.	GRCh37	7	99434099	99434099	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs751527297	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	113	138	0	ENST00000354829.2:c.95T>G	p.Leu32Arg	p.L32R	ENST00000354829	NM_057095.2	32	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS5675.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACTTTTTA	NONE	.	.	hmmpanther:PTHR24302:SF6,hmmpanther:PTHR24302,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000222382	.	2/13	.	.	.	.	.	.	.	.	rs751527297	2/13	PASS	ENST00000222382	Transcript	.	.	ENSG00000021461	17450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.05)	.	CP343_HUMAN	CYP3A43	HGNC	Q7Z2G5_HUMAN	.	UPI000002A50E	SNV	CYP3A43,missense_variant,p.Leu32Arg,ENST00000312017,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000354829,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000421837,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000417625,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000415413,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000222382,;CYP3A43,intron_variant,,ENST00000444905,;CYP3A43,intron_variant,,ENST00000342499,;CYP3A43,intron_variant,,ENST00000495115,;CYP3A43,intron_variant,,ENST00000491648,;CYP3A43,intron_variant,,ENST00000477658,;CYP3A43,intron_variant,,ENST00000463915,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000433277,;CYP3A43,missense_variant,p.Leu32Arg,ENST00000434806,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000481362,;CYP3A43,intron_variant,,ENST00000436834,;	95	138	246	SUCCESS
CYP3A43	64816	.	GRCh37	7	99447235	99447235	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	135	159	0	ENST00000354829.2:c.588C>T	p.Leu196=	p.L196=	ENST00000354829	NM_057095.2	196	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5675.1	588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCAACAA	NONE	.	.	hmmpanther:PTHR24302:SF6,hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00464,Prints_domain:PR01689	.	.	ENSP00000222382	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000222382	Transcript	.	.	ENSG00000021461	17450	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP343_HUMAN	CYP3A43	HGNC	Q7Z2G5_HUMAN	.	UPI000002A50E	SNV	CYP3A43,stop_gained,p.Gln59Ter,ENST00000342499,;CYP3A43,synonymous_variant,p.%3D,ENST00000312017,;CYP3A43,synonymous_variant,p.%3D,ENST00000354829,;CYP3A43,synonymous_variant,p.%3D,ENST00000222382,;CYP3A43,intron_variant,,ENST00000444905,;CYP3A43,intron_variant,,ENST00000417625,;CYP3A43,intron_variant,,ENST00000415413,;CYP3A43,intron_variant,,ENST00000495115,;CYP3A43,intron_variant,,ENST00000491648,;CYP3A43,intron_variant,,ENST00000463915,;CYP3A43,intron_variant,,ENST00000477658,;CYP3A43,synonymous_variant,p.%3D,ENST00000434806,;CYP3A43,3_prime_UTR_variant,,ENST00000433277,;CYP3A43,3_prime_UTR_variant,,ENST00000436834,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000481362,;	588	159	228	SUCCESS
ZCWPW1	55063	.	GRCh37	7	99999574	99999574	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	16	124	0	ENST00000398027.2:c.1562C>G	p.Ala521Gly	p.A521G	ENST00000398027	NM_017984.4	521	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS43623.1	1562	MUTECT|MUSE	.	GAGGAGCTGTG	NONE	.	.	hmmpanther:PTHR15999:SF2,hmmpanther:PTHR15999	.	.	ENSP00000381109	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000398027	Transcript	.	.	ENSG00000078487	23486	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated(0.11)	.	ZCPW1_HUMAN	ZCWPW1	HGNC	.	.	UPI000014146E	SNV	ZCWPW1,missense_variant,p.Ala521Gly,ENST00000398027,;ZCWPW1,intron_variant,,ENST00000360951,;ZCWPW1,intron_variant,,ENST00000324725,;ZCWPW1,intron_variant,,ENST00000490721,;ZCWPW1,intron_variant,,ENST00000471336,;PILRA,downstream_gene_variant,,ENST00000198536,;PILRA,downstream_gene_variant,,ENST00000350573,;PILRA,downstream_gene_variant,,ENST00000432297,;PILRA,downstream_gene_variant,,ENST00000394000,;PILRA,downstream_gene_variant,,ENST00000453419,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000479315,;ZCWPW1,intron_variant,,ENST00000490089,;	1810	124	244	SUCCESS
EXT1	2131	.	GRCh37	8	118817113	118817113	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	69	96	0	ENST00000378204.2:c.1903T>G	p.Ser635Ala	p.S635A	ENST00000378204	NM_000127.2	635	Tcc/Gcc	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS6324.1	1903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGAGTATA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53448,Pfam_domain:PF09258,Gene3D:3.90.550.10,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF45	.	.	ENSP00000367446	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000378204	Transcript	1	.	ENSG00000182197	3512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.05)	.	EXT1_HUMAN	EXT1	HGNC	T2FFJ4_HUMAN,S5Y321_HUMAN,D7RTA7_HUMAN	.	UPI000012A3A1	SNV	EXT1,missense_variant,p.Ser635Ala,ENST00000378204,;EXT1,3_prime_UTR_variant,,ENST00000437196,;	2710	96	166	SUCCESS
TNFRSF11B	4982	.	GRCh37	8	119936632	119936632	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	53	108	0	ENST00000297350.4:c.1187T>G	p.Val396Gly	p.V396G	ENST00000297350	NM_002546.3	396	gTa/gGa	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS6326.1	1187	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTACTGAT	NONE	.	.	hmmpanther:PTHR23097:SF90,hmmpanther:PTHR23097,PIRSF_domain:PIRSF038065,Prints_domain:PR01975	.	.	ENSP00000297350	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000297350	Transcript	1	.	ENSG00000164761	11909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.09)	.	TR11B_HUMAN	TNFRSF11B	HGNC	.	.	UPI0000157F05	SNV	TNFRSF11B,missense_variant,p.Val396Gly,ENST00000297350,;TNFRSF11B,downstream_gene_variant,,ENST00000521597,;TNFRSF11B,downstream_gene_variant,,ENST00000517352,;	1566	108	144	SUCCESS
TG	7038	.	GRCh37	8	133935646	133935646	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763563370	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	58	0	ENST00000220616.4:c.4592C>G	p.Ala1531Gly	p.A1531G	ENST00000220616	NM_003235.4	1531	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS34944.1	4592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGCCAGCC	NONE	.	.	Superfamily_domains:SSF57610,PIRSF_domain:PIRSF001831,SMART_domains:SM00211,Gene3D:4.10.800.10,PROSITE_patterns:PS00484,PROSITE_profiles:PS51162	.	.	ENSP00000220616	.	22/48	.	.	.	.	.	.	.	.	rs763563370	22/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.501)	.	deleterious(0.02)	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,missense_variant,p.Ala1531Gly,ENST00000220616,;TG,missense_variant,p.Ala51Gly,ENST00000519178,;TG,5_prime_UTR_variant,,ENST00000542445,;TG,intron_variant,,ENST00000377869,;TG,3_prime_UTR_variant,,ENST00000523756,;	4632	58	90	SUCCESS
COL22A1	169044	.	GRCh37	8	139620230	139620230	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs772387414	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	48	1	ENST00000303045.6:c.3981C>A		p.X1327_splice	ENST00000303045	NM_152888.1	1327	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6376.1	3981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGCCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	57/65	.	.	.	.	.	.	.	.	rs772387414,COSM393821	57/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,synonymous_variant,p.%3D,ENST00000303045,;COL22A1,synonymous_variant,p.%3D,ENST00000435777,;COL22A1,splice_region_variant,,ENST00000341807,;COL22A1,splice_region_variant,,ENST00000487854,;	4428	49	64	SUCCESS
ZNF250	58500	.	GRCh37	8	146108000	146108000	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	466	38	135	1	ENST00000292579.7:c.583G>A	p.Gly195Arg	p.G195R	ENST00000292579	NM_021061.4	195	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS34972.1	583	MUTECT|MUSE	.	CTCTCCACTAG	NONE	.	.	hmmpanther:PTHR24377:SF112,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000292579	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292579	Transcript	.	.	ENSG00000196150	13044	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.09)	.	ZN250_HUMAN	ZNF250	HGNC	.	.	UPI0000197F51	SNV	ZNF250,missense_variant,p.Gly195Arg,ENST00000292579,;ZNF250,missense_variant,p.Gly190Arg,ENST00000417550,;ZNF250,missense_variant,p.Gly169Arg,ENST00000533221,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;ZNF250,intron_variant,,ENST00000533543,;	700	136	504	SUCCESS
GPR124	0	.	GRCh37	8	37692843	37692843	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	30	0	ENST00000412232.2:c.1760C>A	p.Pro587Gln	p.P587Q	ENST00000412232	NM_032777.9	587	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS6097.2	1760	MUTECT|MUSE	.	GCCCCCAGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011	.	.	ENSP00000406367	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.59)	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,missense_variant,p.Pro587Gln,ENST00000412232,;GPR124,intron_variant,,ENST00000315215,;	1773	30	29	SUCCESS
ANK1	286	.	GRCh37	8	41574509	41574514	+	inframe_deletion	In_Frame_Del	DEL	AATATT	AATATT	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	AATATT	AATATT	.	.	.	.	.	.	.	.	.	.	.	.	.	150	50	202	0	ENST00000347528.4:c.1361_1366del	p.Lys454_Leu456delinsIle	p.K454_L456delinsI	ENST00000347528	NM_020477.2	454	aAATATTta/ata	0	.	.	.	.	.	-	KYL/I	protein_coding	YES	CCDS47849.1	1460-1465	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGTAAATATTTGGCC	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000265709	.	13/43	.	.	.	.	.	.	.	.	.	13/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	deletion	ANK1,inframe_deletion,p.Lys487_Leu489delinsIle,ENST00000265709,;ANK1,inframe_deletion,p.Lys454_Leu456delinsIle,ENST00000352337,;ANK1,inframe_deletion,p.Lys454_Leu456delinsIle,ENST00000396942,;ANK1,inframe_deletion,p.Lys454_Leu456delinsIle,ENST00000379758,;ANK1,inframe_deletion,p.Lys454_Leu456delinsIle,ENST00000289734,;ANK1,inframe_deletion,p.Lys454_Leu456delinsIle,ENST00000347528,;ANK1,inframe_deletion,p.Lys454_Leu456delinsIle,ENST00000396945,;	1742-1747	202	200	SUCCESS
XKR4	114786	.	GRCh37	8	56436755	56436757	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	33	0	ENST00000327381.6:c.1924_1926del	p.Glu642del	p.E642del	ENST00000327381	NM_052898.1	641	cAGGag/cag	0	.	.	.	.	.	-	QE/Q	protein_coding	YES	CCDS34893.1	1922-1924	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATTCAGGAGCGG	NONE	.	.	.	.	.	ENSP00000328326	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	deletion	XKR4,inframe_deletion,p.Glu642del,ENST00000327381,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	2022-2024	33	37	SUCCESS
ANKS6	203286	.	GRCh37	9	101498813	101498813	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	35	0	ENST00000353234.4:c.2604C>G	p.Ser868Arg	p.S868R	ENST00000353234		868	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS43856.1	2604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGCTGTT	NONE	.	.	hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF2	.	.	ENSP00000297837	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000353234	Transcript	.	.	ENSG00000165138	26724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.22)	.	ANKS6_HUMAN	ANKS6	HGNC	F5H7X9_HUMAN	.	UPI0000530317	SNV	ANKS6,missense_variant,p.Ser338Arg,ENST00000444472,;ANKS6,missense_variant,p.Ser673Arg,ENST00000540940,;ANKS6,missense_variant,p.Ser567Arg,ENST00000375019,;ANKS6,missense_variant,p.Ser869Arg,ENST00000375018,;ANKS6,missense_variant,p.Ser868Arg,ENST00000353234,;	2652	35	38	SUCCESS
TRUB2	26995	.	GRCh37	9	131072114	131072114	+	synonymous_variant	Silent	SNP	C	C	T	rs765647021	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	96	1	ENST00000372890.4:c.711G>A	p.Lys237=	p.K237=	ENST00000372890	NM_015679.1	237	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS6897.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAACTTCCG	NONE	.	.	hmmpanther:PTHR13195,Superfamily_domains:SSF55120	.	.	ENSP00000361982	.	8/8	.	.	.	.	.	.	.	.	rs765647021	8/8	PASS	ENST00000372890	Transcript	.	.	ENSG00000167112	17170	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRUB2_HUMAN	TRUB2	HGNC	B7Z7G5_HUMAN	.	UPI0000074026	SNV	TRUB2,synonymous_variant,p.%3D,ENST00000372890,;TRUB2,synonymous_variant,p.%3D,ENST00000546104,;RP11-339B21.14,upstream_gene_variant,,ENST00000608093,;RP11-339B21.15,upstream_gene_variant,,ENST00000608252,;TRUB2,non_coding_transcript_exon_variant,,ENST00000461180,;TRUB2,non_coding_transcript_exon_variant,,ENST00000460320,;	1045	97	73	SUCCESS
SPTAN1	6709	.	GRCh37	9	131369944	131369944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	88	0	ENST00000372731.4:c.4108G>T	p.Asp1370Tyr	p.D1370Y	ENST00000372731	NM_003127.3	1370	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS48036.1	4108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGATGTC	NONE	.	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	32/57	.	.	.	.	.	.	.	.	.	32/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Asp1370Tyr,ENST00000372739,;SPTAN1,missense_variant,p.Asp1370Tyr,ENST00000358161,;SPTAN1,missense_variant,p.Asp1370Tyr,ENST00000372731,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000461855,;SPTAN1,upstream_gene_variant,,ENST00000476825,;	4218	88	55	SUCCESS
RABL6	55684	.	GRCh37	9	139722950	139722951	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AG	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	51	40	25	0	ENST00000311502.7:c.318_319insAG	p.Cys107SerfsTer9	p.C107Sfs*9	ENST00000311502		106	-/AG	0	.	.	.	.	.	AG	-/X	protein_coding	YES	CCDS55352.1	318-319	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAAAATGCAA	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR14932,Gene3D:3.40.50.300,Pfam_domain:PF08477,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000360727	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000371663	Transcript	.	.	ENSG00000196642	24703	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RABL6_HUMAN	RABL6	HGNC	.	.	UPI0000E0C208	insertion	RABL6,frameshift_variant,p.Cys18SerfsTer9,ENST00000425121,;RABL6,frameshift_variant,p.Cys107SerfsTer9,ENST00000371663,;RABL6,frameshift_variant,p.Cys64SerfsTer9,ENST00000436380,;RABL6,frameshift_variant,p.Cys69SerfsTer9,ENST00000432842,;RABL6,frameshift_variant,p.Cys107SerfsTer9,ENST00000371671,;RABL6,frameshift_variant,p.Cys107SerfsTer9,ENST00000357466,;RABL6,frameshift_variant,p.Cys107SerfsTer9,ENST00000311502,;RABL6,5_prime_UTR_variant,,ENST00000371675,;MIR4292,upstream_gene_variant,,ENST00000585012,;RABL6,non_coding_transcript_exon_variant,,ENST00000461992,;RABL6,non_coding_transcript_exon_variant,,ENST00000466096,;RABL6,frameshift_variant,p.Cys107SerfsTer9,ENST00000484471,;RABL6,frameshift_variant,p.Cys69SerfsTer9,ENST00000464941,;RP11-216L13.18,non_coding_transcript_exon_variant,,ENST00000471502,;	593-594	25	91	SUCCESS
LINGO2	158038	.	GRCh37	9	27949553	27949553	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs181261791	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	20	47	0	ENST00000308675.3:c.1117C>A	p.Leu373Met	p.L373M	ENST00000308675		373	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6524.1	1117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGGTGG	BUFFER|p.R369Q|c.1106G>A|3,BUFFER|p.R369Q|c.1106G>A|3	by1000G	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Gene3D:3.80.10.10	.	.	ENSP00000369328	.	6/6	.	.	.	.	.	.	.	.	rs181261791	6/6	PASS	ENST00000379992	Transcript	.	.	ENSG00000174482	21207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	.	deleterious(0.02)	.	LIGO2_HUMAN	LINGO2	HGNC	.	.	UPI000004C7CD	SNV	LINGO2,missense_variant,p.Leu373Met,ENST00000308675,;LINGO2,missense_variant,p.Leu373Met,ENST00000379992,;	1567	47	31	SUCCESS
LINGO2	158038	.	GRCh37	9	27949554	27949554	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	20	47	0	ENST00000308675.3:c.1116C>A	p.Thr372=	p.T372=	ENST00000308675		372	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6524.1	1116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGGTGGG	BUFFER|p.R369Q|c.1106G>A|3	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Gene3D:3.80.10.10	.	.	ENSP00000369328	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000379992	Transcript	.	.	ENSG00000174482	21207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIGO2_HUMAN	LINGO2	HGNC	.	.	UPI000004C7CD	SNV	LINGO2,synonymous_variant,p.%3D,ENST00000308675,;LINGO2,synonymous_variant,p.%3D,ENST00000379992,;	1566	47	31	SUCCESS
PIGO	84720	.	GRCh37	9	35094331	35094331	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs761993139	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	40	0	ENST00000378617.3:c.537T>G	p.Asp179Glu	p.D179E	ENST00000378617	NM_032634.3	179	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS6575.1	537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCATCTCC	NONE	.	.	hmmpanther:PTHR23071,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	.	.	ENSP00000367880	.	3/11	.	.	.	.	.	.	.	.	rs761993139	3/11	PASS	ENST00000378617	Transcript	.	.	ENSG00000165282	23215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PIGO_HUMAN	PIGO	HGNC	.	.	UPI0000048EF6	SNV	PIGO,missense_variant,p.Asp179Glu,ENST00000341666,;PIGO,missense_variant,p.Asp179Glu,ENST00000361778,;PIGO,missense_variant,p.Asp179Glu,ENST00000298004,;PIGO,missense_variant,p.Asp179Glu,ENST00000378617,;RP11-182N22.8,upstream_gene_variant,,ENST00000431804,;PIGO,non_coding_transcript_exon_variant,,ENST00000472208,;PIGO,downstream_gene_variant,,ENST00000492770,;PIGO,upstream_gene_variant,,ENST00000491687,;PIGO,non_coding_transcript_exon_variant,,ENST00000465745,;PIGO,non_coding_transcript_exon_variant,,ENST00000474436,;	932	40	39	SUCCESS
TENM1	10178	.	GRCh37	X	123540198	123540198	+	synonymous_variant	Silent	SNP	C	C	T	rs148101479	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	55	77	0	ENST00000371130.3:c.5103G>A	p.Thr1701=	p.T1701=	ENST00000371130	NM_014253.3	1701	acG/acA	0	T:0.0005	.	.	.	.	T	T	protein_coding	YES	CCDS55488.1	5124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCCGTCAA	NONE	byCluster	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	T:0	ENSP00000403954	.	26/32	.	.	.	.	.	.	.	.	rs148101479	26/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,synonymous_variant,p.%3D,ENST00000422452,;TENM1,synonymous_variant,p.%3D,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	5188	77	72	SUCCESS
FAM47A	158724	.	GRCh37	X	34149528	34149528	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	53	65	0	ENST00000346193.3:c.868C>G	p.Pro290Ala	p.P290A	ENST00000346193	NM_203408.3	290	Ccc/Gcc	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS43926.1	868	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGTTCGT	NONE	.	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	COSM1743310	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	deleterious(0.02)	1	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Pro290Ala,ENST00000346193,;	920	65	67	SUCCESS
POF1B	79983	.	GRCh37	X	84561303	84561303	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	65	106	0	ENST00000262753.4:c.1201T>C	p.Leu401=	p.L401=	ENST00000262753	NM_024921.3	401	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS14452.1	1201	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAATGCCT	NONE	.	.	hmmpanther:PTHR22546	.	.	ENSP00000262753	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000262753	Transcript	.	.	ENSG00000124429	13711	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POF1B_HUMAN	POF1B	HGNC	.	.	UPI0000212116	SNV	POF1B,synonymous_variant,p.%3D,ENST00000373145,;POF1B,synonymous_variant,p.%3D,ENST00000262753,;	1347	106	84	SUCCESS
LINC00202-2	0	.	GRCh37	10	26939568	26939568	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	16	0	ENST00000544033.1:n.5501A>G		p.*1834*	ENST00000544033				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	CAGGCACATGC	NONE	.	.	.	.	.	.	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000544033	Transcript	.	.	ENSG00000231976	44917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	LINC00202-2	HGNC	.	.	.	SNV	LINC00202-2,non_coding_transcript_exon_variant,,ENST00000434458,;LINC00202-2,non_coding_transcript_exon_variant,,ENST00000544033,;LINC00202-2,non_coding_transcript_exon_variant,,ENST00000413288,;LINC00202-2,non_coding_transcript_exon_variant,,ENST00000423917,;	5501	16	9	SUCCESS
TUBAL3	79861	.	GRCh37	10	5437418	5437418	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	113	0	ENST00000380419.3:c.268C>A	p.His90Asn	p.H90N	ENST00000380419	NM_024803.2	90	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS7066.2	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTGCTGGC	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF77,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	.	.	ENSP00000369784	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000380419	Transcript	.	.	ENSG00000178462	23534	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious_low_confidence(0)	.	TBAL3_HUMAN	TUBAL3	HGNC	.	.	UPI00000497AE	SNV	TUBAL3,missense_variant,p.His50Asn,ENST00000479328,;TUBAL3,missense_variant,p.His90Asn,ENST00000380419,;	306	113	89	SUCCESS
PRF1	5551	.	GRCh37	10	72358910	72358910	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	77	0	ENST00000373209.2:c.567G>A	p.Leu189=	p.L189=	ENST00000373209		189	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7305.1	567	RADIA|MUSE|VARSCANS	.	GGGTGCAGCGG	NONE	.	.	PROSITE_profiles:PS51412,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000398568	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441259	Transcript	1	.	ENSG00000180644	9360	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PERF_HUMAN	PRF1	HGNC	S5S2F2_HUMAN,S5RDP5_HUMAN	.	UPI000013162B	SNV	PRF1,synonymous_variant,p.%3D,ENST00000373209,;PRF1,synonymous_variant,p.%3D,ENST00000441259,;	728	77	40	SUCCESS
ALG9	79796	.	GRCh37	11	111724383	111724383	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1555140947	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	33	271	0	ENST00000531154.1:c.265A>G	p.Ile89Val	p.I89V	ENST00000531154	NM_024740.2	89	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS41714.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTATGAGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22760:SF2,hmmpanther:PTHR22760,Pfam_domain:PF03901	.	.	ENSP00000435517	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000531154	Transcript	.	.	ENSG00000086848	15672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.51)	.	ALG9_HUMAN	ALG9	HGNC	.	.	UPI000058E4B0	SNV	ALG9,missense_variant,p.Ile89Val,ENST00000531154,;ALG9,missense_variant,p.Ile89Val,ENST00000398006,;ALG9,non_coding_transcript_exon_variant,,ENST00000527228,;ALG9,non_coding_transcript_exon_variant,,ENST00000532374,;ALG9,non_coding_transcript_exon_variant,,ENST00000524386,;ALG9,non_coding_transcript_exon_variant,,ENST00000524457,;ALG9,non_coding_transcript_exon_variant,,ENST00000527883,;ALG9,intron_variant,,ENST00000530851,;ALG9,downstream_gene_variant,,ENST00000529754,;ALG9,3_prime_UTR_variant,,ENST00000524880,;ALG9,non_coding_transcript_exon_variant,,ENST00000527714,;	738	271	157	SUCCESS
GLYAT	10249	.	GRCh37	11	58477472	58477472	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	102	0	ENST00000344743.3:c.658G>A	p.Asp220Asn	p.D220N	ENST00000344743	NM_201648.2	220	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS7970.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGATCCCAGC	NONE	.	.	hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF5,Pfam_domain:PF08444,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	.	.	ENSP00000340200	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000344743	Transcript	.	.	ENSG00000149124	13734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.37)	.	GLYAT_HUMAN	GLYAT	HGNC	.	.	UPI00003667C7	SNV	GLYAT,missense_variant,p.Asp220Asn,ENST00000529732,;GLYAT,missense_variant,p.Asp220Asn,ENST00000344743,;GLYAT,intron_variant,,ENST00000586098,;GLYAT,downstream_gene_variant,,ENST00000278400,;	800	102	64	SUCCESS
MPEG1	219972	.	GRCh37	11	58979368	58979368	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377757190	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	91	0	ENST00000361050.3:c.971G>A	p.Gly324Asp	p.G324D	ENST00000361050	NM_001039396.1	324	gGc/gAc	0	T:0.0005	.	.	.	.	T	G/D	protein_coding	YES	CCDS41650.1	971	MUTECT|MUSE	.	GGGGGCCTGGC	NONE	byFrequency|byCluster	.	SMART_domains:SM00457,Pfam_domain:PF01823,hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3,PROSITE_profiles:PS51412	.	T:0	ENSP00000354335	.	1/1	.	.	.	.	.	.	.	.	rs377757190	1/1	PASS	ENST00000361050	Transcript	.	.	ENSG00000197629	29619	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.438)	.	tolerated(0.55)	.	MPEG1_HUMAN	MPEG1	HGNC	.	.	UPI0000049D9F	SNV	MPEG1,missense_variant,p.Gly324Asp,ENST00000361050,;DTX4,downstream_gene_variant,,ENST00000227451,;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	1057	91	57	SUCCESS
STYK1	55359	.	GRCh37	12	10783658	10783658	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1187103882	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	143	0	ENST00000075503.3:c.437T>C	p.Leu146Pro	p.L146P	ENST00000075503	NM_018423.2	146	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS8629.1	437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGAATA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF216,Pfam_domain:PF07714,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000075503	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000075503	Transcript	.	.	ENSG00000060140	18889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	STYK1_HUMAN	STYK1	HGNC	F5H4G3_HUMAN,F5H366_HUMAN,F5H2I9_HUMAN	.	UPI000013C57C	SNV	STYK1,missense_variant,p.Leu146Pro,ENST00000075503,;STYK1,downstream_gene_variant,,ENST00000535345,;STYK1,upstream_gene_variant,,ENST00000542924,;STYK1,downstream_gene_variant,,ENST00000542562,;STYK1,downstream_gene_variant,,ENST00000541561,;STYK1,downstream_gene_variant,,ENST00000538867,;	958	143	83	SUCCESS
ACACB	32	.	GRCh37	12	109637211	109637211	+	synonymous_variant	Silent	SNP	C	C	A	rs778064707	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	37	106	0	ENST00000338432.7:c.2632C>A	p.Arg878=	p.R878=	ENST00000338432		878	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS31898.1	2632	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACCGAATT	NONE	byFrequency	.	hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84	.	.	ENSP00000341044	.	18/53	.	.	.	.	.	.	.	.	rs778064707	18/53	PASS	ENST00000338432	Transcript	.	.	ENSG00000076555	85	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACACB_HUMAN	ACACB	HGNC	F5H5C3_HUMAN,E9PEW7_HUMAN	.	UPI0000DBEEFB	SNV	ACACB,synonymous_variant,p.%3D,ENST00000377854,;ACACB,synonymous_variant,p.%3D,ENST00000377848,;ACACB,synonymous_variant,p.%3D,ENST00000338432,;	2751	106	72	SUCCESS
CHD4	1108	.	GRCh37	12	6701152	6701152	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	124	0	ENST00000357008.2:c.3020C>T	p.Ser1007Phe	p.S1007F	ENST00000357008	NM_001273.2	1007	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS8552.1	3020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGACACC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,Pfam_domain:PF00176,Superfamily_domains:SSF52540	.	.	ENSP00000349508	.	20/40	.	.	.	.	.	.	.	.	.	20/40	PASS	ENST00000357008	Transcript	.	.	ENSG00000111642	1919	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.685)	.	deleterious(0)	.	CHD4_HUMAN	CHD4	HGNC	F5H6N4_HUMAN	.	UPI000013C8EF	SNV	CHD4,missense_variant,p.Ser1000Phe,ENST00000544040,;CHD4,missense_variant,p.Ser1004Phe,ENST00000544484,;CHD4,missense_variant,p.Ser1007Phe,ENST00000309577,;CHD4,missense_variant,p.Ser1007Phe,ENST00000357008,;CHD4,upstream_gene_variant,,ENST00000536301,;CHD4,downstream_gene_variant,,ENST00000536999,;CHD4,upstream_gene_variant,,ENST00000540960,;CHD4,non_coding_transcript_exon_variant,,ENST00000545083,;CHD4,non_coding_transcript_exon_variant,,ENST00000537634,;	3184	124	77	SUCCESS
RB1	5925	.	GRCh37	13	48953788	48953788	+	splice_donor_variant	Splice_Site	SNP	T	T	C	.	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	47	284	0	ENST00000267163.4:c.1389+2T>C		p.X463_splice	ENST00000267163	NM_000321.2	463		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31973.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGTAAGTT	NONE	.	.	.	.	.	ENSP00000267163	.	.	.	.	.	.	.	.	.	.	CS023834	.	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	14/26	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,splice_donor_variant,,ENST00000267163,;	.	284	69	SUCCESS
VIPAS39	63894	.	GRCh37	14	77895420	77895420	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	74	0	ENST00000343765.2:c.1285A>C	p.Asn429His	p.N429H	ENST00000343765		429	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS9862.1	1285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATTGACAT	NONE	.	.	hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6,Pfam_domain:PF09787	.	.	ENSP00000452181	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000553888	Transcript	.	.	ENSG00000151445	20347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.617)	.	tolerated(0.13)	.	SPE39_HUMAN	VIPAS39	HGNC	Q6IA61_HUMAN,G3V549_HUMAN	.	UPI00000735EF	SNV	VIPAS39,missense_variant,p.Asn455His,ENST00000556412,;VIPAS39,missense_variant,p.Asn416His,ENST00000327028,;VIPAS39,missense_variant,p.Asn429His,ENST00000343765,;VIPAS39,missense_variant,p.Asn380His,ENST00000448935,;VIPAS39,missense_variant,p.Asn429His,ENST00000553888,;VIPAS39,missense_variant,p.Asn429His,ENST00000557658,;	1796	74	39	SUCCESS
TLN2	83660	.	GRCh37	15	63084851	63084851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	47	0	ENST00000306829.6:c.5748G>T	p.Gln1916His	p.Q1916H	ENST00000306829	NM_015059.2	1916	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS32261.1	5748	MUTECT|MUSE	.	TTCCAGATTCG	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1.20.1440.10,Pfam_domain:PF08913,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	45/58	.	.	.	.	.	.	.	.	.	45/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.44)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Gln830His,ENST00000494733,;TLN2,missense_variant,p.Gln1916His,ENST00000561311,;TLN2,missense_variant,p.Gln1916His,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;	5978	47	47	SUCCESS
GPRC5B	51704	.	GRCh37	16	19873251	19873251	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754331652	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	58	0	ENST00000300571.2:c.1075C>A	p.Pro359Thr	p.P359T	ENST00000300571	NM_016235.1	359	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS10581.1	1075	MUTECT|MUSE	.	ACTGGGTCTTT	NONE	.	.	hmmpanther:PTHR14511:SF9,hmmpanther:PTHR14511	.	.	ENSP00000300571	.	3/4	.	.	.	.	.	.	.	.	rs754331652	3/4	PASS	ENST00000300571	Transcript	.	.	ENSG00000167191	13308	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.42)	.	GPC5B_HUMAN	GPRC5B	HGNC	H3BT93_HUMAN,H3BT47_HUMAN,H3BSJ1_HUMAN,H3BQV9_HUMAN,H3BN33_HUMAN	.	UPI0000032747	SNV	GPRC5B,missense_variant,p.Pro359Thr,ENST00000300571,;GPRC5B,missense_variant,p.Pro385Thr,ENST00000537135,;GPRC5B,missense_variant,p.Pro359Thr,ENST00000569847,;GPRC5B,missense_variant,p.Pro359Thr,ENST00000569479,;GPRC5B,missense_variant,p.Pro359Thr,ENST00000535671,;IQCK,downstream_gene_variant,,ENST00000320394,;IQCK,downstream_gene_variant,,ENST00000568061,;GPRC5B,upstream_gene_variant,,ENST00000569102,;GPRC5B,non_coding_transcript_exon_variant,,ENST00000562348,;IQCK,downstream_gene_variant,,ENST00000308214,;IQCK,downstream_gene_variant,,ENST00000568300,;	1267	58	49	SUCCESS
CDH1	999	.	GRCh37	16	68849486	68849486	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	147	0	ENST00000261769.5:c.1389G>A	p.Glu463=	p.E463=	ENST00000261769	NM_004360.3	463	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS10869.1	1389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGGTCTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261769	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000261769	Transcript	.	.	ENSG00000039068	1748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH1_HUMAN	CDH1	HGNC	B3GN61_HUMAN	.	UPI00000341EF	SNV	CDH1,synonymous_variant,p.%3D,ENST00000422392,;CDH1,synonymous_variant,p.%3D,ENST00000261769,;RP11-354M1.2,non_coding_transcript_exon_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,synonymous_variant,p.%3D,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,downstream_gene_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000565810,;	1580	147	71	SUCCESS
MYO15A	51168	.	GRCh37	17	18052893	18052893	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs375050588	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	89	0	ENST00000205890.5:c.7211C>T	p.Ala2404Val	p.A2404V	ENST00000205890	NM_016239.3	2404	gCg/gTg	0	T:0	.	.	.	.	T	A/V	protein_coding	YES	CCDS42271.1	7211	MUTECT|MUSE	.	GGATGCGGTAG	NONE	byFrequency|byCluster	.	.	.	T:0.0002	ENSP00000205890	.	35/66	.	.	.	.	.	.	.	.	rs375050588	35/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,missense_variant,p.Ala2404Val,ENST00000205890,;MYO15A,upstream_gene_variant,,ENST00000585180,;MYO15A,upstream_gene_variant,,ENST00000418233,;snoU13,downstream_gene_variant,,ENST00000459354,;MYO15A,non_coding_transcript_exon_variant,,ENST00000578999,;MYO15A,upstream_gene_variant,,ENST00000445289,;MYO15A,upstream_gene_variant,,ENST00000536811,;	7549	89	57	SUCCESS
KIAA0100	9703	.	GRCh37	17	26970215	26970215	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	80	0	ENST00000528896.2:c.363C>G	p.Ser121=	p.S121=	ENST00000528896	NM_014680.3	121	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS32595.1	363	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGACAG	NONE	.	.	hmmpanther:PTHR15678,Pfam_domain:PF10344	.	.	ENSP00000436773	.	4/39	.	.	.	.	.	.	.	.	.	4/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,synonymous_variant,p.%3D,ENST00000528896,;KIAA0100,5_prime_UTR_variant,,ENST00000544884,;KIAA0100,5_prime_UTR_variant,,ENST00000389003,;KIAA0100,3_prime_UTR_variant,,ENST00000583403,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000582901,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,upstream_gene_variant,,ENST00000579253,;KIAA0100,upstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000581267,;	438	80	49	SUCCESS
NF1	4763	.	GRCh37	17	29592294	29592294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	137	0	ENST00000358273.4:c.4772G>A	p.Ser1591Asn	p.S1591N	ENST00000358273	NM_001042492.2	1591	aGt/aAt	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS42292.1	4772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAAGTATTT	BUFFER|p.L1590L|c.4768T>C|3,BUFFER|p.L1590L|c.4768T>C|3	.	.	SMART_domains:SM00516,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194,PROSITE_profiles:PS50191	.	.	ENSP00000351015	.	36/58	.	.	.	.	.	.	.	.	.	36/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Ser1236Asn,ENST00000456735,;NF1,missense_variant,p.Ser1591Asn,ENST00000358273,;NF1,missense_variant,p.Ser1570Asn,ENST00000356175,;NF1,missense_variant,p.Ser1604Asn,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000466819,;NF1,downstream_gene_variant,,ENST00000479614,;	5155	137	83	SUCCESS
TAF15	8148	.	GRCh37	17	34149836	34149836	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	52	250	0	ENST00000588240.1:c.483A>C	p.Gln161His	p.Q161H	ENST00000588240	NM_139215.2	161	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS32623.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAAGGTAA	NONE	.	.	hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25	.	.	ENSP00000466950	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000588240	Transcript	.	.	ENSG00000172660	11547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious_low_confidence(0)	.	RBP56_HUMAN	TAF15	HGNC	Q86X94_HUMAN,K7EJB3_HUMAN	.	UPI000013317D	SNV	TAF15,missense_variant,p.Gln161His,ENST00000588240,;TAF15,missense_variant,p.Gln158His,ENST00000590273,;TAF15,missense_variant,p.Gln158His,ENST00000311979,;TAF15,missense_variant,p.Gln70His,ENST00000592237,;TAF15,downstream_gene_variant,,ENST00000588441,;TAF15,downstream_gene_variant,,ENST00000587272,;AC015849.13,intron_variant,,ENST00000589356,;AC015849.19,intron_variant,,ENST00000588415,;TAF15,missense_variant,p.Gln70His,ENST00000590051,;TAF15,splice_region_variant,,ENST00000591527,;TAF15,splice_region_variant,,ENST00000591957,;	598	250	134	SUCCESS
MED24	9862	.	GRCh37	17	38209618	38209618	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	104	0	ENST00000394128.2:c.146A>G	p.Gln49Arg	p.Q49R	ENST00000394128	NM_014815.3	49	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS11359.1	146	MUTECT|MUSE	.	TGGCCTGCTCT	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	3/26	.	.	.	.	.	.	.	.	.	3/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.813)	.	deleterious(0)	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,missense_variant,p.Gln95Arg,ENST00000582023,;MED24,missense_variant,p.Gln49Arg,ENST00000580302,;MED24,missense_variant,p.Gln49Arg,ENST00000501516,;MED24,missense_variant,p.Gln49Arg,ENST00000356271,;MED24,missense_variant,p.Gln49Arg,ENST00000394128,;MED24,missense_variant,p.Gln74Arg,ENST00000578161,;MED24,missense_variant,p.Gln74Arg,ENST00000543759,;MED24,missense_variant,p.Gln74Arg,ENST00000580517,;MED24,missense_variant,p.Gln74Arg,ENST00000428757,;MED24,missense_variant,p.Gln49Arg,ENST00000585306,;MED24,missense_variant,p.Gln74Arg,ENST00000394126,;MED24,missense_variant,p.Gln74Arg,ENST00000537674,;MED24,missense_variant,p.Gln49Arg,ENST00000394127,;MED24,5_prime_UTR_variant,,ENST00000535071,;MED24,intron_variant,,ENST00000580885,;THRA,upstream_gene_variant,,ENST00000577288,;MED24,non_coding_transcript_exon_variant,,ENST00000479829,;MED24,missense_variant,p.Gln5Arg,ENST00000578901,;MED24,missense_variant,p.Gln49Arg,ENST00000535508,;MED24,non_coding_transcript_exon_variant,,ENST00000581054,;MED24,upstream_gene_variant,,ENST00000580008,;	228	104	64	SUCCESS
POTEC	388468	.	GRCh37	18	14537872	14537872	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	76	301	0	ENST00000358970.5:c.738T>C	p.Ala246=	p.A246=	ENST00000358970	NM_001137671.1	246	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS45835.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACAGCATA	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000351856	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,synonymous_variant,p.%3D,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,synonymous_variant,p.%3D,ENST00000511306,;	738	301	166	SUCCESS
GATA6	2627	.	GRCh37	18	19756976	19756976	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	33	0	ENST00000269216.3:c.1196C>T	p.Pro399Leu	p.P399L	ENST00000269216	NM_005257.4	399	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS11872.1	1196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCGCTGT	NONE	.	.	PROSITE_profiles:PS50114,hmmpanther:PTHR10071:SF23,hmmpanther:PTHR10071,PROSITE_patterns:PS00344,Gene3D:3.30.50.10,Pfam_domain:PF00320,SMART_domains:SM00401,Superfamily_domains:SSF57716,Prints_domain:PR00619	.	.	ENSP00000269216	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000269216	Transcript	.	.	ENSG00000141448	4174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	deleterious(0.01)	.	GATA6_HUMAN	GATA6	HGNC	Q05CA6_HUMAN	.	UPI0000201AC8	SNV	GATA6,missense_variant,p.Pro399Leu,ENST00000269216,;GATA6,missense_variant,p.Pro399Leu,ENST00000581694,;RNU6-702P,downstream_gene_variant,,ENST00000364982,;RP11-627G18.2,upstream_gene_variant,,ENST00000578504,;	1473	33	28	SUCCESS
GCDH	2639	.	GRCh37	19	13003196	13003196	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	33	0	ENST00000222214.5:c.334+204C>A		p.*112*	ENST00000222214	NM_000159.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12286.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCCCAGG	NONE	.	.	.	.	.	ENSP00000222214	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222214	Transcript	1	.	ENSG00000105607	4189	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCDH_HUMAN	GCDH	HGNC	.	.	UPI000012B292	SNV	GCDH,synonymous_variant,p.%3D,ENST00000422947,;GCDH,splice_region_variant,,ENST00000587072,;GCDH,intron_variant,,ENST00000588905,;GCDH,intron_variant,,ENST00000222214,;GCDH,intron_variant,,ENST00000457854,;GCDH,intron_variant,,ENST00000589039,;GCDH,intron_variant,,ENST00000591470,;GCDH,upstream_gene_variant,,ENST00000590472,;GCDH,upstream_gene_variant,,ENST00000591050,;GCDH,missense_variant,p.Pro113Thr,ENST00000590530,;GCDH,intron_variant,,ENST00000421816,;GCDH,intron_variant,,ENST00000590627,;GCDH,intron_variant,,ENST00000585420,;GCDH,intron_variant,,ENST00000591043,;GCDH,intron_variant,,ENST00000587832,;GCDH,downstream_gene_variant,,ENST00000590445,;GCDH,downstream_gene_variant,,ENST00000585760,;AD000092.3,upstream_gene_variant,,ENST00000464444,;	.	33	25	SUCCESS
ANO8	57719	.	GRCh37	19	17442017	17442017	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	55	0	ENST00000159087.4:c.711C>A	p.Ile237=	p.I237=	ENST00000159087	NM_020959.2	237	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS32949.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGATGTC	NONE	.	.	hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF26,Pfam_domain:PF04547	.	.	ENSP00000159087	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000159087	Transcript	.	.	ENSG00000074855	29329	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO8_HUMAN	ANO8	HGNC	.	.	UPI00001C200F	SNV	ANO8,synonymous_variant,p.%3D,ENST00000159087,;GTPBP3,upstream_gene_variant,,ENST00000361619,;GTPBP3,upstream_gene_variant,,ENST00000598532,;ANO8,synonymous_variant,p.%3D,ENST00000597643,;GTPBP3,upstream_gene_variant,,ENST00000601213,;ANO8,downstream_gene_variant,,ENST00000600711,;	870	55	41	SUCCESS
ZNF257	113835	.	GRCh37	19	22271464	22271464	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	51	109	0	ENST00000594947.1:c.912T>C	p.Thr304=	p.T304=	ENST00000594947	NM_033468.2	304	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS46030.1	912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTCAACA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000470209	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000594947	Transcript	.	.	ENSG00000197134	13498	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN257_HUMAN	ZNF257	HGNC	M0R0N1_HUMAN	.	UPI0000E045CA	SNV	ZNF257,synonymous_variant,p.%3D,ENST00000594947,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;	1056	109	91	SUCCESS
CREB3L3	84699	.	GRCh37	19	4171379	4171379	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs112561919	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	88	0	ENST00000078445.2:c.976-1G>A		p.X326_splice	ENST00000078445	NM_032607.2	326		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12121.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGGTCCT	NONE	byCluster	.	.	.	.	ENSP00000078445	.	.	.	.	.	.	.	.	.	.	rs112561919	.	PASS	ENST00000078445	Transcript	1	.	ENSG00000060566	18855	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR3L3_HUMAN	CREB3L3	HGNC	.	.	UPI000006FCF0	SNV	CREB3L3,splice_acceptor_variant,,ENST00000602147,;CREB3L3,splice_acceptor_variant,,ENST00000252587,;CREB3L3,splice_acceptor_variant,,ENST00000078445,;CREB3L3,splice_acceptor_variant,,ENST00000602257,;CREB3L3,splice_acceptor_variant,,ENST00000595923,;SIRT6,downstream_gene_variant,,ENST00000601488,;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000381935,;SIRT6,downstream_gene_variant,,ENST00000337491,;SIRT6,downstream_gene_variant,,ENST00000594279,;SIRT6,downstream_gene_variant,,ENST00000305232,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,splice_acceptor_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599365,;SIRT6,downstream_gene_variant,,ENST00000600938,;SIRT6,downstream_gene_variant,,ENST00000599394,;SIRT6,downstream_gene_variant,,ENST00000601069,;	.	88	105	SUCCESS
ZNF350	59348	.	GRCh37	19	52468329	52468329	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	95	0	ENST00000243644.4:c.1377G>A	p.Gly459=	p.G459=	ENST00000243644	NM_021632.3	459	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12845.1	1377	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGCCCCGTT	NONE	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF11	.	.	ENSP00000243644	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000243644	Transcript	.	.	ENSG00000256683	16656	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN350_HUMAN	ZNF350	HGNC	M0R1T8_HUMAN,M0R017_HUMAN,M0QYT6_HUMAN,M0QY52_HUMAN	.	UPI00000721F1	SNV	ZNF350,synonymous_variant,p.%3D,ENST00000243644,;ZNF350,downstream_gene_variant,,ENST00000593596,;ZNF350,downstream_gene_variant,,ENST00000594929,;ZNF350,downstream_gene_variant,,ENST00000601430,;ZNF350,downstream_gene_variant,,ENST00000597788,;HCCAT3,intron_variant,,ENST00000600253,;HCCAT3,intron_variant,,ENST00000595010,;ZNF350,downstream_gene_variant,,ENST00000600703,;ZNF350,downstream_gene_variant,,ENST00000598254,;	1605	95	74	SUCCESS
PTPN22	26191	.	GRCh37	1	114399229	114399229	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs115552198	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	193	0	ENST00000359785.5:c.421C>T	p.Arg141Cys	p.R141C	ENST00000359785	NM_015967.5	141	Cgc/Tgc	0	A:0.0018	A:0.0045	.	A:0	.	A	R/C	protein_coding	YES	CCDS863.1	421	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGCTCAC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF260,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF000930,SMART_domains:SM00194,Superfamily_domains:SSF52799	A:0	A:0	ENSP00000352833	A:0	6/21	.	.	.	.	.	.	.	.	rs115552198,COSM3399546	6/21	PASS	ENST00000359785	Transcript	.	A:0.0012	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	A:0	deleterious(0)	0,1	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Arg141Cys,ENST00000528414,;PTPN22,missense_variant,p.Arg141Cys,ENST00000420377,;PTPN22,missense_variant,p.Arg141Cys,ENST00000359785,;PTPN22,intron_variant,,ENST00000460620,;PTPN22,intron_variant,,ENST00000525799,;PTPN22,intron_variant,,ENST00000538253,;AP4B1-AS1,upstream_gene_variant,,ENST00000419536,;PTPN22,downstream_gene_variant,,ENST00000534519,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;PTPN22,intron_variant,,ENST00000532224,;PTPN22,downstream_gene_variant,,ENST00000529045,;	557	193	105	SUCCESS
C1orf111	0	.	GRCh37	1	162343882	162343882	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	101	0	ENST00000367935.5:c.742G>A	p.Glu248Lys	p.E248K	ENST00000367935	NM_182581.3	248	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1238.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTTCAGCAG	NONE	.	.	.	.	.	ENSP00000356912	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367935	Transcript	.	.	ENSG00000171722	27648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated_low_confidence(0.38)	.	CA111_HUMAN	C1orf111	HGNC	.	.	UPI000013EC35	SNV	C1orf111,missense_variant,p.Glu248Lys,ENST00000367935,;RP11-565P22.6,intron_variant,,ENST00000431696,;C1orf226,intron_variant,,ENST00000420220,;NOS1AP,downstream_gene_variant,,ENST00000493151,;C1orf226,upstream_gene_variant,,ENST00000426197,;NOS1AP,downstream_gene_variant,,ENST00000361897,;NOS1AP,intron_variant,,ENST00000367932,;C1orf111,downstream_gene_variant,,ENST00000493255,;	822	101	110	SUCCESS
FBXO42	54455	.	GRCh37	1	16577608	16577609	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	83	0	ENST00000375592.3:c.1710_1711insG	p.Pro571AlafsTer82	p.P571Afs*82	ENST00000375592	NM_018994.1	570	-/G	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS30613.1	1710-1711	INDELOCATOR*|VARSCANI*|PINDEL	.	CGAGGGGCCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF250	.	.	ENSP00000364742	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000375592	Transcript	.	.	ENSG00000037637	29249	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBX42_HUMAN	FBXO42	HGNC	.	.	UPI0000161A51	insertion	FBXO42,frameshift_variant,p.Pro571AlafsTer82,ENST00000375592,;FBXO42,frameshift_variant,p.Pro289AlafsTer?,ENST00000444116,;FBXO42,frameshift_variant,p.Pro289AlafsTer?,ENST00000456164,;	1927-1928	83	49	SUCCESS
GPR137B	7107	.	GRCh37	1	236306038	236306038	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199613305	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	29	62	0	ENST00000366592.3:c.116C>A	p.Pro39His	p.P39H	ENST00000366592	NM_003272.3	39	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1609.1	116	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCCCTACG	NONE	.	.	hmmpanther:PTHR15146:SF0,hmmpanther:PTHR15146	.	.	ENSP00000355551	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000366592	Transcript	.	.	ENSG00000077585	11862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.03)	.	G137B_HUMAN	GPR137B	HGNC	Q5TAF0_HUMAN,B4DI47_HUMAN	.	UPI0000050441	SNV	GPR137B,missense_variant,p.Pro39His,ENST00000366591,;GPR137B,missense_variant,p.Pro39His,ENST00000366592,;GPR137B,upstream_gene_variant,,ENST00000419162,;	207	62	98	SUCCESS
RYR2	6262	.	GRCh37	1	237774131	237774131	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs528206995	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	124	0	ENST00000366574.2:c.4753C>T	p.Arg1585Cys	p.R1585C	ENST00000366574	NM_001035.2	1585	Cgc/Tgc	0	.	T:0.0008	.	T:0	.	T	R/C	protein_coding	YES	CCDS55691.1	4753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGCGCCTC	NONE	by1000G	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	T:0	.	ENSP00000355533	T:0	36/105	.	.	.	.	.	.	.	.	rs528206995,COSM3400506,COSM3400505	36/105	PASS	ENST00000366574	Transcript	.	T:0.0002	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.98)	T:0	.	0,1,1	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Arg1569Cys,ENST00000542537,;RYR2,missense_variant,p.Arg1585Cys,ENST00000366574,;RYR2,missense_variant,p.Arg1583Cys,ENST00000360064,;	5070	124	121	SUCCESS
GTF2B	2959	.	GRCh37	1	89318944	89318944	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	68	0	ENST00000370500.5:c.903del	p.Thr302GlnfsTer25	p.T302Qfs*25	ENST00000370500	NM_001514.5	301	ccT/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS715.1	903	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTGTAGGAAA	NONE	.	.	hmmpanther:PTHR11618,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000359531	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370500	Transcript	.	.	ENSG00000137947	4648	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TF2B_HUMAN	GTF2B	HGNC	.	.	UPI0000136C21	deletion	GTF2B,frameshift_variant,p.Thr302GlnfsTer25,ENST00000370500,;GTF2B,3_prime_UTR_variant,,ENST00000448623,;GTF2B,downstream_gene_variant,,ENST00000418217,;GTF2B,downstream_gene_variant,,ENST00000494819,;	1022	68	48	SUCCESS
RBM39	9584	.	GRCh37	20	34292616	34292616	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs199587566	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	53	203	0	ENST00000253363.6:c.1466A>G	p.Asn489Ser	p.N489S	ENST00000253363		489	aAt/aGt	0	.	C:0.0008	.	C:0	.	C	N/S	protein_coding	YES	CCDS13266.1	1466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCATTGACA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF301,Pfam_domain:PF13893,TIGRFAM_domain:TIGR01622,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	C:0	.	ENSP00000253363	C:0	16/17	.	.	.	.	.	.	.	.	rs199587566,COSM3363209	16/17	PASS	ENST00000253363	Transcript	.	C:0.0008	ENSG00000131051	15923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	C:0.0031	tolerated(0.16)	0,1	RBM39_HUMAN	RBM39	HGNC	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN	.	UPI0000134418	SNV	RBM39,missense_variant,p.Asn467Ser,ENST00000528062,;RBM39,missense_variant,p.Asn483Ser,ENST00000361162,;RBM39,missense_variant,p.Asn489Ser,ENST00000253363,;RBM39,missense_variant,p.Asn332Ser,ENST00000407261,;ROMO1,downstream_gene_variant,,ENST00000374078,;ROMO1,downstream_gene_variant,,ENST00000336695,;ROMO1,downstream_gene_variant,,ENST00000374077,;ROMO1,downstream_gene_variant,,ENST00000397416,;RBM39,downstream_gene_variant,,ENST00000448303,;ROMO1,downstream_gene_variant,,ENST00000374072,;RBM39,non_coding_transcript_exon_variant,,ENST00000495293,;RBM39,non_coding_transcript_exon_variant,,ENST00000476806,;RBM39,non_coding_transcript_exon_variant,,ENST00000496183,;RBM39,non_coding_transcript_exon_variant,,ENST00000490354,;RBM39,downstream_gene_variant,,ENST00000470563,;RBM39,downstream_gene_variant,,ENST00000475651,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000338163,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000482563,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000465158,;RBM39,downstream_gene_variant,,ENST00000471635,;RBM39,downstream_gene_variant,,ENST00000468086,;	1490	203	117	SUCCESS
CDH4	1002	.	GRCh37	20	60294222	60294249	+	intron_variant	Intron	DEL	AGCATCCATGGGTTCTAATCAGAGATTT	AGCATCCATGGGTTCTAATCAGAGATTT	-	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	AGCATCCATGGGTTCTAATCAGAGATTT	AGCATCCATGGGTTCTAATCAGAGATTT	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	71	0	ENST00000360469.5:c.170-24397_170-24370del		p.*57*	ENST00000360469	NM_001794.3			0	.	.	.	.	.	-	.	protein_coding	YES	.	?-5	INDELOCATOR*|PINDEL	.	ATTGTCAGCATCCATGGGTTCTAATCAGAGATTTTTTTT	NONE	.	.	.	.	.	ENSP00000315214	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000317652	Transcript	.	.	ENSG00000179253	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-429E11.3	Clone_based_vega_gene	Q5VZ43_HUMAN	.	UPI00001400F7	deletion	RP11-429E11.3,coding_sequence_variant,,ENST00000317652,;CDH4,intron_variant,,ENST00000543233,;CDH4,intron_variant,,ENST00000360469,;	313-340	71	41	SUCCESS
PLCB4	5332	.	GRCh37	20	9382162	9382162	+	synonymous_variant	Silent	SNP	C	C	T	rs368947166	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	93	0	ENST00000278655.4:c.1536C>T	p.Pro512=	p.P512=	ENST00000278655	NM_182797.2	512	ccC/ccT	0	T:0	.	.	.	.	T	P	protein_coding	YES	CCDS13104.1	1536	MUTECT|MUSE	.	CACCCCGAATT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,PIRSF_domain:PIRSF000956	.	T:0.0001	ENSP00000367762	.	17/36	.	.	.	.	.	.	.	.	rs368947166	17/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,synonymous_variant,p.%3D,ENST00000334005,;PLCB4,synonymous_variant,p.%3D,ENST00000414679,;PLCB4,synonymous_variant,p.%3D,ENST00000278655,;PLCB4,synonymous_variant,p.%3D,ENST00000378473,;PLCB4,synonymous_variant,p.%3D,ENST00000378493,;PLCB4,synonymous_variant,p.%3D,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	1551	93	57	SUCCESS
SOD1	6647	.	GRCh37	21	33032037	33032037	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	43	0	ENST00000270142.6:c.-46C>T		p.*16*	ENST00000270142	NM_000454.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTCCGTTG	NONE	.	.	.	.	.	ENSP00000270142	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000270142	Transcript	.	.	ENSG00000142168	11179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SODC_HUMAN	SOD1	HGNC	.	.	UPI0000000C20	SNV	SOD1,5_prime_UTR_variant,,ENST00000270142,;SOD1,5_prime_UTR_variant,,ENST00000389995,;AP000253.1,upstream_gene_variant,,ENST00000449339,;SNORA81,upstream_gene_variant,,ENST00000458922,;SOD1,non_coding_transcript_exon_variant,,ENST00000470944,;SOD1,non_coding_transcript_exon_variant,,ENST00000476106,;	103	43	21	SUCCESS
ITSN1	6453	.	GRCh37	21	35258604	35258604	+	synonymous_variant	Silent	SNP	G	G	A	rs760597542	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	147	0	ENST00000381318.3:c.4857G>A	p.Pro1619=	p.P1619=	ENST00000381318	NM_003024.2	1619	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33545.1	4857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGTACTG	NONE	byFrequency	.	PROSITE_profiles:PS50004,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000370719	.	39/40	.	.	.	.	.	.	.	.	rs760597542	39/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,synonymous_variant,p.%3D,ENST00000381284,;ITSN1,synonymous_variant,p.%3D,ENST00000381285,;ITSN1,synonymous_variant,p.%3D,ENST00000415023,;ITSN1,synonymous_variant,p.%3D,ENST00000381318,;ITSN1,synonymous_variant,p.%3D,ENST00000399367,;ITSN1,synonymous_variant,p.%3D,ENST00000437442,;ITSN1,3_prime_UTR_variant,,ENST00000399326,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,3_prime_UTR_variant,,ENST00000420666,;	5145	147	99	SUCCESS
RUNX1	861	.	GRCh37	21	36421229	36421229	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	79	0	ENST00000300305.3:c.-33C>T		p.*11*	ENST00000300305				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13639.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGGCGGG	NONE	.	.	.	.	.	ENSP00000300305	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000300305	Transcript	.	.	ENSG00000159216	10471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUNX1_HUMAN	RUNX1	HGNC	.	.	UPI000015FE6A	SNV	RUNX1,5_prime_UTR_variant,,ENST00000486278,;RUNX1,5_prime_UTR_variant,,ENST00000455571,;RUNX1,5_prime_UTR_variant,,ENST00000416754,;RUNX1,5_prime_UTR_variant,,ENST00000437180,;RUNX1,5_prime_UTR_variant,,ENST00000300305,;RUNX1,5_prime_UTR_variant,,ENST00000475045,;RUNX1,5_prime_UTR_variant,,ENST00000482318,;	413	79	36	SUCCESS
PWP2	5822	.	GRCh37	21	45534063	45534063	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750155567	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	44	0	ENST00000291576.7:c.230G>A	p.Gly77Asp	p.G77D	ENST00000291576	NM_005049.2	77	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS33579.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGCGATG	NONE	.	.	hmmpanther:PTHR19858,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF63829	.	.	ENSP00000291576	.	4/21	.	.	.	.	.	.	.	.	rs750155567	4/21	PASS	ENST00000291576	Transcript	.	.	ENSG00000241945	9711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PWP2_HUMAN	PWP2	HGNC	.	.	UPI0000169D5D	SNV	PWP2,missense_variant,p.Gly77Asp,ENST00000291576,;PWP2,intron_variant,,ENST00000456705,;PWP2,upstream_gene_variant,,ENST00000486126,;PWP2,upstream_gene_variant,,ENST00000471490,;	357	44	20	SUCCESS
DGCR8	54487	.	GRCh37	22	20073936	20073936	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	61	0	ENST00000351989.3:c.450G>A	p.Leu150=	p.L150=	ENST00000351989	NM_022720.6	150	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13773.1	450	MUTECT|VARSCANS	.	GGTCTGCTCCT	NONE	.	.	hmmpanther:PTHR13482,hmmpanther:PTHR13482:SF2	.	.	ENSP00000263209	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000351989	Transcript	.	.	ENSG00000128191	2847	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DGCR8_HUMAN	DGCR8	HGNC	C9JSD5_HUMAN	.	UPI0000129225	SNV	DGCR8,synonymous_variant,p.%3D,ENST00000351989,;DGCR8,synonymous_variant,p.%3D,ENST00000383024,;DGCR8,synonymous_variant,p.%3D,ENST00000407755,;DGCR8,downstream_gene_variant,,ENST00000457069,;MIR1306,downstream_gene_variant,,ENST00000408439,;MIR3618,downstream_gene_variant,,ENST00000580330,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,upstream_gene_variant,,ENST00000498171,;	879	61	36	SUCCESS
KCNJ4	3761	.	GRCh37	22	38823043	38823043	+	synonymous_variant	Silent	SNP	C	C	T	rs761527264	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	54	0	ENST00000303592.3:c.1095G>A	p.Pro365=	p.P365=	ENST00000303592	NM_152868.2	365	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13971.1	1095	MUSE|VARSCANS	.	GGGGGCGGTGG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11767:SF13,hmmpanther:PTHR11767,PIRSF_domain:PIRSF005465,Prints_domain:PR01326	.	.	ENSP00000306497	.	2/2	.	.	.	.	.	.	.	.	rs761527264	2/2	PASS	ENST00000303592	Transcript	.	.	ENSG00000168135	6265	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRK4_HUMAN	KCNJ4	HGNC	Q58F07_HUMAN	.	UPI000012D89B	SNV	KCNJ4,synonymous_variant,p.%3D,ENST00000303592,;RP3-434P1.6,intron_variant,,ENST00000433230,;	1354	55	34	SUCCESS
SULT1C3	442038	.	GRCh37	2	108872149	108872149	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	71	0	ENST00000329106.2:c.521G>C	p.Gly174Ala	p.G174A	ENST00000329106	NM_001008743.1	174	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS33267.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCGGAAAAG	NONE	.	.	hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF39,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333310	.	4/7	.	.	.	.	.	.	.	.	COSM353011	4/7	PASS	ENST00000329106	Transcript	.	.	ENSG00000196228	33543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0.01)	1	ST1C3_HUMAN	SULT1C3	HGNC	.	.	UPI000004348F	SNV	SULT1C3,missense_variant,p.Gly174Ala,ENST00000376700,;SULT1C3,missense_variant,p.Gly174Ala,ENST00000329106,;	521	71	35	SUCCESS
SCN9A	6335	.	GRCh37	2	167163101	167163101	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747448727	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	64	0	ENST00000303354.6:c.389G>T	p.Ser130Ile	p.S130I	ENST00000303354		130	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS46441.1	386	RADIA|MUTECT|MUSE	.	GCATGCTGAAT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000386306	.	4/27	.	.	.	.	.	.	.	.	rs747448727	4/27	PASS	ENST00000409672	Transcript	.	.	ENSG00000169432	10597	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	deleterious(0.01)	.	SCN9A_HUMAN	SCN9A	HGNC	Q53QP0_HUMAN	.	UPI0000140AC7	SNV	SCN9A,missense_variant,p.Ser130Ile,ENST00000375387,;SCN9A,missense_variant,p.Ser129Ile,ENST00000409435,;SCN9A,missense_variant,p.Ser129Ile,ENST00000409672,;SCN9A,missense_variant,p.Ser130Ile,ENST00000303354,;SCN9A,upstream_gene_variant,,ENST00000452182,;SCN9A,upstream_gene_variant,,ENST00000454569,;AC010127.3,downstream_gene_variant,,ENST00000447809,;SCN9A,upstream_gene_variant,,ENST00000472119,;	733	64	56	SUCCESS
TTN	7273	.	GRCh37	2	179544702	179544702	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	136	0	ENST00000591111.1:c.32548G>C	p.Val10850Leu	p.V10850L	ENST00000591111		10850	Gta/Cta	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS59435.1	33499	SOMATICSNIPER|VARSCANS	.	TTCTACAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	140/363	.	.	.	.	.	.	.	.	.	140/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Val9923Leu,ENST00000342992,;TTN,missense_variant,p.Val11167Leu,ENST00000589042,;TTN,missense_variant,p.Val10850Leu,ENST00000591111,;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	33724	136	82	SUCCESS
AOX1	316	.	GRCh37	2	201527688	201527688	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1559261369	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	83	0	ENST00000374700.2:c.3539A>G	p.His1180Arg	p.H1180R	ENST00000374700	NM_001159.3	1180	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33360.1	3539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCATAAGG	NONE	.	.	hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	.	.	ENSP00000363832	.	31/35	.	.	.	.	.	.	.	.	.	31/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.25)	.	deleterious(0)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.His20Arg,ENST00000439380,;AOX1,missense_variant,p.His66Arg,ENST00000260930,;AOX1,missense_variant,p.His1180Arg,ENST00000374700,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	3780	83	49	SUCCESS
APOB	338	.	GRCh37	2	21229749	21229749	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	51	213	0	ENST00000233242.1:c.9991A>G	p.Ile3331Val	p.I3331V	ENST00000233242	NM_000384.2	3331	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS1703.1	9991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAATAAAAA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Ile3331Val,ENST00000233242,;	10119	213	135	SUCCESS
EPHA4	2043	.	GRCh37	2	222428734	222428734	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	91	0	ENST00000281821.2:c.540G>A	p.Gly180=	p.G180=	ENST00000281821	NM_004438.3	180	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2447.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAACCCCTT	NONE	.	.	Superfamily_domains:SSF49785,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Gene3D:2.60.120.260,Pfam_domain:PF01404,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS51550	.	.	ENSP00000281821	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,synonymous_variant,p.%3D,ENST00000419964,;EPHA4,synonymous_variant,p.%3D,ENST00000409854,;EPHA4,synonymous_variant,p.%3D,ENST00000392071,;EPHA4,synonymous_variant,p.%3D,ENST00000409938,;EPHA4,synonymous_variant,p.%3D,ENST00000281821,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,downstream_gene_variant,,ENST00000541600,;EPHA4,3_prime_UTR_variant,,ENST00000415749,;	582	91	45	SUCCESS
ATG16L1	55054	.	GRCh37	2	234198547	234198548	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	73	34	77	0	ENST00000392017.4:c.1252dup	p.Leu418ProfsTer37	p.L418Pfs*37	ENST00000392017	NM_001190266.1	417	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS2503.2	1251-1252	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCCTGCTGGA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19878,hmmpanther:PTHR19878:SF3,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000375872	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000392017	Transcript	.	.	ENSG00000085978	21498	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A16L1_HUMAN	ATG16L1	HGNC	Q53SV2_HUMAN,Q17RG0_HUMAN,F8WAF9_HUMAN,D9N2U2_HUMAN,C9J8C6_HUMAN	.	UPI0000208D0D	insertion	ATG16L1,frameshift_variant,p.Leu239ProfsTer37,ENST00000373525,;ATG16L1,frameshift_variant,p.Leu418ProfsTer37,ENST00000392017,;ATG16L1,frameshift_variant,p.Leu255ProfsTer37,ENST00000347464,;ATG16L1,frameshift_variant,p.Leu399ProfsTer37,ENST00000392020,;ATG16L1,frameshift_variant,p.Leu435ProfsTer37,ENST00000392018,;SCARNA6,downstream_gene_variant,,ENST00000515982,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000464645,;ATG16L1,downstream_gene_variant,,ENST00000498620,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;ATG16L1,upstream_gene_variant,,ENST00000473865,;	1508-1509	77	107	SUCCESS
ANKMY1	51281	.	GRCh37	2	241463442	241463442	+	synonymous_variant	Silent	SNP	G	G	A	rs142172344	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	79	0	ENST00000272972.3:c.1425C>T	p.Cys475=	p.C475=	ENST00000272972	NM_016552.2	475	tgC/tgT	0	A:0	.	.	.	.	A	C	protein_coding	YES	CCDS2536.1	1425	MUTECT|MUSE	.	AAGTCGCACAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897	.	A:0.0003	ENSP00000375847	.	8/18	.	.	.	.	.	.	.	.	rs142172344	8/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,synonymous_variant,p.%3D,ENST00000405523,;ANKMY1,synonymous_variant,p.%3D,ENST00000391987,;ANKMY1,synonymous_variant,p.%3D,ENST00000361678,;ANKMY1,synonymous_variant,p.%3D,ENST00000405002,;ANKMY1,synonymous_variant,p.%3D,ENST00000373320,;ANKMY1,synonymous_variant,p.%3D,ENST00000403283,;ANKMY1,synonymous_variant,p.%3D,ENST00000401804,;ANKMY1,synonymous_variant,p.%3D,ENST00000272972,;ANKMY1,synonymous_variant,p.%3D,ENST00000536462,;ANKMY1,synonymous_variant,p.%3D,ENST00000373318,;ANKMY1,intron_variant,,ENST00000406958,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;	1792	79	54	SUCCESS
AGBL5	60509	.	GRCh37	2	27282078	27282078	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	62	217	0	ENST00000360131.4:c.1895C>A	p.Ser632Tyr	p.S632Y	ENST00000360131	NM_021831.5	632	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS1732.3	1895	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCGAAA	NONE	.	.	hmmpanther:PTHR12756	.	.	ENSP00000353249	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000360131	Transcript	.	.	ENSG00000084693	26147	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	deleterious_low_confidence(0)	.	CBPC5_HUMAN	AGBL5	HGNC	C9JTY1_HUMAN,C9JQG9_HUMAN,C9JHM6_HUMAN,C9JCE1_HUMAN	.	UPI000006FE54	SNV	AGBL5,missense_variant,p.Ser632Tyr,ENST00000360131,;AGBL5,missense_variant,p.Ser632Tyr,ENST00000323064,;AGBL5,upstream_gene_variant,,ENST00000441931,;AGBL5-IT1,upstream_gene_variant,,ENST00000411862,;RP11-503P10.1,upstream_gene_variant,,ENST00000607407,;RP11-195B17.1,downstream_gene_variant,,ENST00000607659,;AGBL5,missense_variant,p.Ser632Tyr,ENST00000487078,;AGBL5,downstream_gene_variant,,ENST00000477136,;AGBL5,downstream_gene_variant,,ENST00000489683,;	2054	217	143	SUCCESS
EML6	400954	.	GRCh37	2	55185121	55185121	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	47	0	ENST00000356458.6:c.4681G>T	p.Val1561Leu	p.V1561L	ENST00000356458	NM_001039753.2	1561	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS46286.1	4681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGTGGCC	NONE	.	.	hmmpanther:PTHR13720:SF8,hmmpanther:PTHR13720,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000348842	.	32/41	.	.	.	.	.	.	.	.	.	32/41	PASS	ENST00000356458	Transcript	.	.	ENSG00000214595	35412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.21)	.	EMAL6_HUMAN	EML6	HGNC	.	.	UPI00006C0432	SNV	EML6,missense_variant,p.Val1561Leu,ENST00000356458,;EML6,non_coding_transcript_exon_variant,,ENST00000481376,;EML6,non_coding_transcript_exon_variant,,ENST00000490828,;	5201	47	28	SUCCESS
CBLB	868	.	GRCh37	3	105459455	105459455	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	86	0	ENST00000264122.4:c.866G>T	p.Cys289Phe	p.C289F	ENST00000264122	NM_170662.3	289	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS2948.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGCAACTT	NONE	.	.	PROSITE_profiles:PS51506,hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3,Pfam_domain:PF02762,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	.	.	ENSP00000264122	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000264122	Transcript	.	.	ENSG00000114423	1542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CBLB_HUMAN	CBLB	HGNC	C9JU85_HUMAN,B5MC15_HUMAN	.	UPI00001AE89F	SNV	CBLB,missense_variant,p.Cys289Phe,ENST00000405772,;CBLB,missense_variant,p.Cys289Phe,ENST00000403724,;CBLB,missense_variant,p.Cys311Phe,ENST00000394027,;CBLB,missense_variant,p.Cys289Phe,ENST00000264122,;CBLB,3_prime_UTR_variant,,ENST00000545639,;	1188	86	53	SUCCESS
C3orf30	0	.	GRCh37	3	118865730	118865730	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148898242	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	72	0	ENST00000295622.1:c.694G>A	p.Val232Ile	p.V232I	ENST00000295622	NM_152539.2	232	Gtc/Atc	0	A:0.0054	A:0.0015	.	A:0	.	A	V/I	protein_coding	YES	CCDS2984.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGTCCCA	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21847:SF1,hmmpanther:PTHR21847	A:0	A:0.0001	ENSP00000295622	A:0	1/3	.	.	.	.	.	.	.	.	rs148898242,COSM176635	1/3	common_in_exac	ENST00000295622	Transcript	.	A:0.0004	ENSG00000163424	26553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0)	A:0	tolerated(0.63)	0,1	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,missense_variant,p.Val232Ile,ENST00000295622,;C3orf30,missense_variant,p.Val196Ile,ENST00000460150,;C3orf30,missense_variant,p.Val25Ile,ENST00000473121,;IGSF11,upstream_gene_variant,,ENST00000425327,;C3orf30,upstream_gene_variant,,ENST00000492792,;RP11-484M3.5,upstream_gene_variant,,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000354673,;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Val232Ile,ENST00000494105,;	734	72	42	SUCCESS
MUC4	4585	.	GRCh37	3	195512493	195512493	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	7	318	0	ENST00000463781.3:c.5958T>G	p.Pro1986=	p.P1986=	ENST00000463781	NM_018406.6	1986	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS54700.1	5958	MUTECT|MUSE	.	GTGACAGGAAG	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,synonymous_variant,p.%3D,ENST00000475231,;MUC4,synonymous_variant,p.%3D,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,synonymous_variant,p.%3D,ENST00000477086,;MUC4,synonymous_variant,p.%3D,ENST00000466475,;MUC4,synonymous_variant,p.%3D,ENST00000478156,;MUC4,synonymous_variant,p.%3D,ENST00000470451,;MUC4,synonymous_variant,p.%3D,ENST00000479406,;MUC4,synonymous_variant,p.%3D,ENST00000477756,;MUC4,synonymous_variant,p.%3D,ENST00000462323,;MUC4,synonymous_variant,p.%3D,ENST00000480843,;	6418	318	191	SUCCESS
COL7A1	1294	.	GRCh37	3	48610318	48610318	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747689845	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	105	0	ENST00000328333.8:c.6808G>T	p.Asp2270Tyr	p.D2270Y	ENST00000328333	NM_000094.3	2270	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2773.1	6808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTCTCCAT	NONE	byFrequency	.	hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000332371	.	86/118	.	.	.	.	.	.	.	.	rs747689845	86/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Asp2270Tyr,ENST00000328333,;COL7A1,missense_variant,p.Asp2238Tyr,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000462475,;	6916	106	73	SUCCESS
LAMB2	3913	.	GRCh37	3	49162918	49162918	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	38	138	0	ENST00000305544.4:c.2489-1G>T		p.X830_splice	ENST00000305544		830		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2789.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCTAGGA	NONE	.	.	.	.	.	ENSP00000388325	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000418109	Transcript	.	.	ENSG00000172037	6487	.	.	HIGH	19/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB2_HUMAN	LAMB2	HGNC	F5H520_HUMAN	.	UPI000013EA62	SNV	LAMB2,splice_acceptor_variant,,ENST00000305544,;LAMB2,splice_acceptor_variant,,ENST00000418109,;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000453664,;USP19,upstream_gene_variant,,ENST00000434032,;USP19,upstream_gene_variant,,ENST00000398888,;USP19,upstream_gene_variant,,ENST00000306026,;LAMB2,non_coding_transcript_exon_variant,,ENST00000464891,;LAMB2,intron_variant,,ENST00000486298,;USP19,upstream_gene_variant,,ENST00000488993,;USP19,upstream_gene_variant,,ENST00000491859,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,splice_acceptor_variant,,ENST00000477701,;LAMB2,non_coding_transcript_exon_variant,,ENST00000483057,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,downstream_gene_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,downstream_gene_variant,,ENST00000493571,;	.	138	112	SUCCESS
DNAH1	25981	.	GRCh37	3	52361949	52361949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	60	186	0	ENST00000420323.2:c.790A>G	p.Met264Val	p.M264V	ENST00000420323	NM_015512.4	264	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS46842.1	790	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACATGGGC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	.	.	ENSP00000401514	.	6/78	.	.	.	.	.	.	.	.	.	6/78	PASS	ENST00000420323	Transcript	.	.	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Met264Val,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	1051	186	115	SUCCESS
ACOX2	8309	.	GRCh37	3	58520174	58520174	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	45	147	0	ENST00000302819.5:c.236C>A	p.Ala79Asp	p.A79D	ENST00000302819	NM_003500.3	79	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33775.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCAGCCTTA	NONE	.	.	hmmpanther:PTHR10909:SF266,hmmpanther:PTHR10909,Pfam_domain:PF14749,Gene3D:1.10.540.10,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF56645	.	.	ENSP00000307697	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000302819	Transcript	.	.	ENSG00000168306	120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.31)	.	ACOX2_HUMAN	ACOX2	HGNC	C9JY29_HUMAN,B4DPM1_HUMAN	.	UPI000000DC36	SNV	ACOX2,missense_variant,p.Ala79Asp,ENST00000459701,;ACOX2,missense_variant,p.Ala79Asp,ENST00000302819,;ACOX2,missense_variant,p.Ala79Asp,ENST00000474098,;ACOX2,intron_variant,,ENST00000475143,;ACOX2,non_coding_transcript_exon_variant,,ENST00000466689,;ACOX2,intron_variant,,ENST00000492530,;ACOX2,downstream_gene_variant,,ENST00000480791,;ACOX2,upstream_gene_variant,,ENST00000489472,;ACOX2,upstream_gene_variant,,ENST00000466810,;	528	147	106	SUCCESS
ACOX2	8309	.	GRCh37	3	58520175	58520175	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747182843	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	45	146	0	ENST00000302819.5:c.235G>A	p.Ala79Thr	p.A79T	ENST00000302819	NM_003500.3	79	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33775.1	235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCTTAT	NONE	byFrequency	.	hmmpanther:PTHR10909:SF266,hmmpanther:PTHR10909,Pfam_domain:PF14749,Gene3D:1.10.540.10,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF56645	.	.	ENSP00000307697	.	3/15	.	.	.	.	.	.	.	.	rs747182843	3/15	PASS	ENST00000302819	Transcript	.	.	ENSG00000168306	120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.38)	.	ACOX2_HUMAN	ACOX2	HGNC	C9JY29_HUMAN,B4DPM1_HUMAN	.	UPI000000DC36	SNV	ACOX2,missense_variant,p.Ala79Thr,ENST00000459701,;ACOX2,missense_variant,p.Ala79Thr,ENST00000302819,;ACOX2,missense_variant,p.Ala79Thr,ENST00000474098,;ACOX2,intron_variant,,ENST00000475143,;ACOX2,non_coding_transcript_exon_variant,,ENST00000466689,;ACOX2,intron_variant,,ENST00000492530,;ACOX2,downstream_gene_variant,,ENST00000480791,;ACOX2,upstream_gene_variant,,ENST00000489472,;ACOX2,upstream_gene_variant,,ENST00000466810,;	527	146	108	SUCCESS
SSUH2	51066	.	GRCh37	3	8665330	8665330	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1283655234	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	60	0	ENST00000317371.4:c.820G>A	p.Val274Met	p.V274M	ENST00000317371		274	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS58815.1	886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACGATGG	NONE	.	.	hmmpanther:PTHR15852:SF7,hmmpanther:PTHR15852	.	.	ENSP00000439378	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000544814	Transcript	.	.	ENSG00000125046	24809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0.01)	.	SSUH2_HUMAN	SSUH2	HGNC	C9JZA7_HUMAN	.	UPI000206527B	SNV	SSUH2,missense_variant,p.Val274Met,ENST00000317371,;SSUH2,missense_variant,p.Val274Met,ENST00000341795,;SSUH2,missense_variant,p.Val274Met,ENST00000415132,;SSUH2,missense_variant,p.Val296Met,ENST00000544814,;SSUH2,downstream_gene_variant,,ENST00000492435,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;	926	60	32	SUCCESS
FSTL5	56884	.	GRCh37	4	162697194	162697194	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs368212600	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	151	0	ENST00000306100.5:c.442A>C	p.Met148Leu	p.M148L	ENST00000306100	NM_001128427.2	148	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS3802.1	442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCATCTTGC	NONE	.	.	Gene3D:1.10.238.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	5/16	.	.	.	.	.	.	.	.	rs368212600	5/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Met147Leu,ENST00000379164,;FSTL5,missense_variant,p.Met147Leu,ENST00000536695,;FSTL5,missense_variant,p.Met147Leu,ENST00000427802,;FSTL5,missense_variant,p.Met148Leu,ENST00000306100,;	879	151	88	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237151	140237151	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	83	0	ENST00000307360.5:c.1518C>T	p.Tyr506=	p.Y506=	ENST00000307360	NM_018901.2	506	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS54921.1	1518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTACGTGTC	BUFFER|p.S508L|c.1523C>T|3,BUFFER|p.S508L|c.1523C>T|3	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,synonymous_variant,p.%3D,ENST00000506939,;PCDHA10,synonymous_variant,p.%3D,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	1518	83	57	SUCCESS
PCDHB8	56128	.	GRCh37	5	140558018	140558018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	624	94	1251	0	ENST00000239444.2:c.403C>A	p.Leu135Met	p.L135M	ENST00000239444	NM_019120.3	135	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS4250.1	403	RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCTGGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF89,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000239444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239444	Transcript	.	.	ENSG00000120322	8693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.16)	.	PCDB8_HUMAN	PCDHB8	HGNC	.	.	UPI000013CA80	SNV	PCDHB8,missense_variant,p.Leu135Met,ENST00000239444,;PCDHB7,downstream_gene_variant,,ENST00000231137,;PCDHB16,upstream_gene_variant,,ENST00000361016,;	648	1251	718	SUCCESS
SOBP	55084	.	GRCh37	6	107811746	107811746	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	39	0	ENST00000317357.5:c.-75G>A		p.*25*	ENST00000317357	NM_018013.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43488.1	.	MUTECT|MUSE	.	CCACCGCCGCC	NONE	.	.	.	.	.	ENSP00000318900	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000317357	Transcript	.	.	ENSG00000112320	29256	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOBP_HUMAN	SOBP	HGNC	.	.	UPI0000E6A8ED	SNV	SOBP,5_prime_UTR_variant,,ENST00000317357,;SOBP,non_coding_transcript_exon_variant,,ENST00000477448,;	585	39	36	SUCCESS
REV3L	5980	.	GRCh37	6	111694495	111694495	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	18	109	0	ENST00000358835.3:c.5063del	p.Gly1688AspfsTer4	p.G1688Dfs*4	ENST00000358835		1688	gGa/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS5091.2	5063	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTGTCCTGGA	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	deletion	REV3L,frameshift_variant,p.Gly1610AspfsTer4,ENST00000435970,;REV3L,frameshift_variant,p.Gly1688AspfsTer4,ENST00000358835,;REV3L,frameshift_variant,p.Gly1688AspfsTer4,ENST00000368802,;REV3L,frameshift_variant,p.Gly1688AspfsTer4,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	5518	109	78	SUCCESS
C6orf58	352999	.	GRCh37	6	127899881	127899881	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776688108	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	91	0	ENST00000329722.7:c.352G>C	p.Asp118His	p.D118H	ENST00000329722	NM_001010905.2	118	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS34533.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGATCAT	NONE	.	.	hmmpanther:PTHR18820,hmmpanther:PTHR18820:SF2,Pfam_domain:PF05612	.	.	ENSP00000328069	.	2/6	.	.	.	.	.	.	.	.	rs776688108	2/6	PASS	ENST00000329722	Transcript	.	.	ENSG00000184530	20960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	CF058_HUMAN	C6orf58	HGNC	.	.	UPI00001D80C9	SNV	C6orf58,missense_variant,p.Asp118His,ENST00000329722,;C6orf58,downstream_gene_variant,,ENST00000498112,;	364	91	57	SUCCESS
BTNL2	56244	.	GRCh37	6	32370894	32370894	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	93	141	0	ENST00000374993.1:c.527A>G	p.Tyr176Cys	p.Y176C	ENST00000374993	NM_019602.1	176	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	.	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAATACACC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF5,hmmpanther:PTHR24100,Pfam_domain:PF08205,Gene3D:2.60.40.10,SMART_domains:SM00407,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000390613	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000454136	Transcript	.	.	ENSG00000204290	1142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	.	tolerated(0.14)	.	.	BTNL2	HGNC	F8WBA1_HUMAN	.	UPI0001B79374	SNV	BTNL2,missense_variant,p.Tyr176Cys,ENST00000454136,;BTNL2,missense_variant,p.Tyr176Cys,ENST00000374993,;BTNL2,intron_variant,,ENST00000544175,;BTNL2,intron_variant,,ENST00000540315,;BTNL2,intron_variant,,ENST00000414363,;BTNL2,intron_variant,,ENST00000429232,;BTNL2,intron_variant,,ENST00000374995,;BTNL2,downstream_gene_variant,,ENST00000446536,;BTNL2,intron_variant,,ENST00000465865,;	532	141	159	SUCCESS
CUL9	23113	.	GRCh37	6	43160821	43160821	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	50	70	0	ENST00000252050.4:c.2263C>T	p.Leu755Phe	p.L755F	ENST00000252050	NM_015089.2	755	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS4890.1	2263	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCCTTTAC	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000252050	.	9/41	.	.	.	.	.	.	.	.	.	9/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Leu645Phe,ENST00000354495,;CUL9,missense_variant,p.Leu755Phe,ENST00000372647,;CUL9,missense_variant,p.Leu755Phe,ENST00000252050,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,downstream_gene_variant,,ENST00000510282,;CUL9,downstream_gene_variant,,ENST00000451399,;	2347	70	80	SUCCESS
MEP1A	4224	.	GRCh37	6	46797206	46797206	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765458047	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	30	125	0	ENST00000230588.4:c.1042T>C	p.Tyr348His	p.Y348H	ENST00000230588	NM_005588.2	348	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS4918.1	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTATAAA	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,PROSITE_patterns:PS00740,Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,SMART_domains:SM00137,Superfamily_domains:SSF49899,Prints_domain:PR00020	.	.	ENSP00000230588	.	10/14	.	.	.	.	.	.	.	.	rs765458047	10/14	PASS	ENST00000230588	Transcript	.	.	ENSG00000112818	7015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MEP1A_HUMAN	MEP1A	HGNC	.	.	UPI000006E4E9	SNV	MEP1A,missense_variant,p.Tyr348His,ENST00000230588,;	1051	125	113	SUCCESS
GRM8	2918	.	GRCh37	7	126173751	126173751	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	57	178	0	ENST00000339582.2:c.1685C>G	p.Pro562Arg	p.P562R	ENST00000339582		562	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS5794.1	1685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGGTCTC	NONE	.	.	hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060,Pfam_domain:PF07562	.	.	ENSP00000344173	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Pro562Arg,ENST00000358373,;GRM8,missense_variant,p.Pro562Arg,ENST00000444921,;GRM8,missense_variant,p.Pro562Arg,ENST00000339582,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Pro562Arg,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	2494	178	103	SUCCESS
CNTNAP2	26047	.	GRCh37	7	146825914	146825914	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	166	0	ENST00000361727.3:c.1069G>T	p.Glu357Ter	p.E357*	ENST00000361727	NM_014141.5	357	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS5889.1	1069	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTAGAGCCC	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127	.	.	ENSP00000354778	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000361727	Transcript	.	.	ENSG00000174469	13830	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN	.	UPI00001285FA	SNV	CNTNAP2,stop_gained,p.Glu357Ter,ENST00000361727,;	1585	166	108	SUCCESS
PSD3	23362	.	GRCh37	8	18730005	18730005	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	87	0	ENST00000440756.2:c.369C>T	p.Leu123=	p.L123=	ENST00000440756		123	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43720.1	369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTGAGATG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106	.	.	ENSP00000324127	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000327040	Transcript	.	.	ENSG00000156011	19093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD3_HUMAN	PSD3	HGNC	E5RJE4_HUMAN,E5RJ29_HUMAN	.	UPI0000210A46	SNV	PSD3,synonymous_variant,p.%3D,ENST00000523619,;PSD3,synonymous_variant,p.%3D,ENST00000327040,;PSD3,synonymous_variant,p.%3D,ENST00000440756,;	472	87	68	SUCCESS
ATP6V1B2	526	.	GRCh37	8	20068787	20068787	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	83	0	ENST00000276390.2:c.563A>C	p.Lys188Thr	p.K188T	ENST00000276390	NM_001693.3	188	aAa/aCa	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS6014.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAAAATTC	NONE	.	.	HAMAP:MF_00310,hmmpanther:PTHR15184:SF30,hmmpanther:PTHR15184,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01040,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000276390	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000276390	Transcript	1	.	ENSG00000147416	854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	VATB2_HUMAN	ATP6V1B2	HGNC	B4DQI9_HUMAN,B4DFM5_HUMAN	.	UPI00001380AD	SNV	ATP6V1B2,missense_variant,p.Lys178Thr,ENST00000519667,;ATP6V1B2,missense_variant,p.Lys188Thr,ENST00000276390,;ATP6V1B2,3_prime_UTR_variant,,ENST00000523478,;ATP6V1B2,non_coding_transcript_exon_variant,,ENST00000523482,;ATP6V1B2,downstream_gene_variant,,ENST00000520830,;	603	83	52	SUCCESS
ZNF703	80139	.	GRCh37	8	37553564	37553564	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	23	58	0	ENST00000331569.4:c.67G>A	p.Gly23Ser	p.G23S	ENST00000331569	NM_025069.1	23	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS6094.1	67	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12522:SF2,hmmpanther:PTHR12522	.	.	ENSP00000332325	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331569	Transcript	.	.	ENSG00000183779	25883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	ZN703_HUMAN	ZNF703	HGNC	.	.	UPI0000073D30	SNV	ZNF703,missense_variant,p.Gly23Ser,ENST00000331569,;	296	58	33	SUCCESS
IKBKB	3551	.	GRCh37	8	42146229	42146229	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	35	0	ENST00000520810.1:c.183G>T	p.Glu61Asp	p.E61D	ENST00000520810	NM_001556.2	61	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6128.1	183	RADIA|MUSE	.	CTGGAGATCCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969,PROSITE_profiles:PS50011	.	.	ENSP00000430684	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000520810	Transcript	1	.	ENSG00000104365	5960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.092)	.	deleterious(0.02)	.	IKKB_HUMAN	IKBKB	HGNC	E5RGW5_HUMAN	.	UPI0000033729	SNV	IKBKB,missense_variant,p.Glu61Asp,ENST00000520810,;IKBKB,missense_variant,p.Glu61Asp,ENST00000519735,;IKBKB,missense_variant,p.Glu59Asp,ENST00000520835,;IKBKB,intron_variant,,ENST00000416505,;IKBKB,intron_variant,,ENST00000379708,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,missense_variant,p.Glu61Asp,ENST00000520655,;IKBKB,missense_variant,p.Glu61Asp,ENST00000521661,;IKBKB,missense_variant,p.Glu61Asp,ENST00000523517,;IKBKB,missense_variant,p.Glu61Asp,ENST00000342222,;IKBKB,non_coding_transcript_exon_variant,,ENST00000518647,;IKBKB,intron_variant,,ENST00000517917,;IKBKB,intron_variant,,ENST00000520201,;IKBKB,intron_variant,,ENST00000519733,;IKBKB,intron_variant,,ENST00000517812,;IKBKB,intron_variant,,ENST00000520320,;IKBKB,intron_variant,,ENST00000517890,;IKBKB,intron_variant,,ENST00000523105,;IKBKB,intron_variant,,ENST00000518679,;IKBKB,intron_variant,,ENST00000517388,;	369	35	21	SUCCESS
PREX2	80243	.	GRCh37	8	69030794	69030794	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	63	0	ENST00000288368.4:c.3336C>A	p.Asn1112Lys	p.N1112K	ENST00000288368	NM_024870.2	1112	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS6201.1	3336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAACAGCAA	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.01)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Asn1112Lys,ENST00000288368,;	3613	63	48	SUCCESS
TRPA1	8989	.	GRCh37	8	72975718	72975718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	65	0	ENST00000262209.4:c.641T>A	p.Met214Lys	p.M214K	ENST00000262209	NM_007332.2	214	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS34908.1	641	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATGCAT	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	5/27	.	.	.	.	.	.	.	.	.	5/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	deleterious(0)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Met66Lys,ENST00000523582,;TRPA1,missense_variant,p.Met214Lys,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519068,;	849	65	37	SUCCESS
FOXD4L3	286380	.	GRCh37	9	70918928	70918928	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	240	55	480	0	ENST00000342833.2:c.1061C>T	p.Thr354Ile	p.T354I	ENST00000342833	NM_199135.4	354	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS43833.1	1061	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCACCTGCT	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149	.	.	ENSP00000341961	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342833	Transcript	.	.	ENSG00000187559	18523	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.86)	.	tolerated_low_confidence(0.29)	.	FX4L3_HUMAN	FOXD4L3	HGNC	Q8WTR0_HUMAN	.	UPI0000367635	SNV	FOXD4L3,missense_variant,p.Thr354Ile,ENST00000342833,;CBWD3,downstream_gene_variant,,ENST00000377342,;CBWD3,downstream_gene_variant,,ENST00000360171,;RP11-561O23.5,upstream_gene_variant,,ENST00000603050,;RP11-561O23.7,upstream_gene_variant,,ENST00000419576,;CBWD3,downstream_gene_variant,,ENST00000377344,;	1653	480	295	SUCCESS
VSIG4	11326	.	GRCh37	X	65244890	65244890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	54	429	0	ENST00000374737.4:c.917T>C	p.Leu306Pro	p.L306P	ENST00000374737	NM_001257403.1	306	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS14383.1	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGAGCATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15466:SF1,hmmpanther:PTHR15466	.	.	ENSP00000363869	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000374737	Transcript	.	.	ENSG00000155659	17032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0)	.	VSIG4_HUMAN	VSIG4	HGNC	.	.	UPI000006F146	SNV	VSIG4,missense_variant,p.Leu306Pro,ENST00000455586,;VSIG4,missense_variant,p.Leu212Pro,ENST00000412866,;VSIG4,missense_variant,p.Leu306Pro,ENST00000374737,;VSIG4,missense_variant,p.Leu233Pro,ENST00000427538,;	1026	429	254	SUCCESS
CHIC1	53344	.	GRCh37	X	72783044	72783044	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	80	0	ENST00000373502.5:c.-77G>A		p.*26*	ENST00000373502	NM_001039840.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35335.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCGTTCCC	NONE	.	.	.	.	.	ENSP00000362601	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000373502	Transcript	.	.	ENSG00000204116	1934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHIC1_HUMAN	CHIC1	HGNC	B7Z4S5_HUMAN	.	UPI0000160F74	SNV	CHIC1,5_prime_UTR_variant,,ENST00000373502,;CHIC1,5_prime_UTR_variant,,ENST00000373504,;MAP2K4P1,upstream_gene_variant,,ENST00000602584,;CHIC1,upstream_gene_variant,,ENST00000498407,;CHIC1,upstream_gene_variant,,ENST00000498318,;	1	80	70	SUCCESS
FRA10AC1	118924	.	GRCh37	10	95459814	95459814	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	72	0	ENST00000359204.4:c.50G>A	p.Cys17Tyr	p.C17Y	ENST00000359204	NM_145246.4	17	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS7430.1	50	RADIA|MUSE|VARSCANS	.	CTCCACAGCGT	NONE	.	.	hmmpanther:PTHR11567:SF25,hmmpanther:PTHR11567	.	.	ENSP00000360488	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000359204	Transcript	1	.	ENSG00000148690	1162	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.29)	.	F10C1_HUMAN	FRA10AC1	HGNC	.	.	UPI000006F7A9	SNV	FRA10AC1,missense_variant,p.Cys17Tyr,ENST00000394100,;FRA10AC1,missense_variant,p.Cys17Tyr,ENST00000371430,;FRA10AC1,missense_variant,p.Cys17Tyr,ENST00000536233,;FRA10AC1,missense_variant,p.Cys17Tyr,ENST00000359204,;	248	72	30	SUCCESS
R3HCC1L	27291	.	GRCh37	10	99968219	99968219	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	26	96	1	ENST00000298999.3:c.348A>G	p.Val116=	p.V116=	ENST00000298999	NM_014472.4	116	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS31267.1	348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTATTATC	NONE	.	.	hmmpanther:PTHR21678:SF2,hmmpanther:PTHR21678	.	.	ENSP00000298999	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000298999	Transcript	.	.	ENSG00000166024	23512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HCL_HUMAN	R3HCC1L	HGNC	.	.	UPI00001F94F0	SNV	R3HCC1L,synonymous_variant,p.%3D,ENST00000298999,;R3HCC1L,synonymous_variant,p.%3D,ENST00000370584,;R3HCC1L,5_prime_UTR_variant,,ENST00000314594,;R3HCC1L,intron_variant,,ENST00000370586,;	651	97	39	SUCCESS
ARNTL	406	.	GRCh37	11	13378511	13378511	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	84	0	ENST00000403290.1:c.180-91C>T		p.*60*	ENST00000403290				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31430.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGACAGGAT	NONE	.	.	.	.	.	ENSP00000374357	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000389707	Transcript	.	.	ENSG00000133794	701	.	.	MODIFIER	6/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMAL1_HUMAN	ARNTL	HGNC	E9PSD2_HUMAN,E9PL54_HUMAN,E9PKN1_HUMAN,E9PKG7_HUMAN,E9PKF0_HUMAN	.	UPI00001D70A3	SNV	ARNTL,missense_variant,p.Thr28Ile,ENST00000403482,;ARNTL,intron_variant,,ENST00000527998,;ARNTL,intron_variant,,ENST00000403290,;ARNTL,intron_variant,,ENST00000396441,;ARNTL,intron_variant,,ENST00000529825,;ARNTL,intron_variant,,ENST00000530357,;ARNTL,intron_variant,,ENST00000531665,;ARNTL,intron_variant,,ENST00000403510,;ARNTL,intron_variant,,ENST00000361003,;ARNTL,intron_variant,,ENST00000529388,;ARNTL,intron_variant,,ENST00000401424,;ARNTL,intron_variant,,ENST00000389708,;ARNTL,intron_variant,,ENST00000533520,;ARNTL,intron_variant,,ENST00000389707,;ARNTL,intron_variant,,ENST00000482049,;ARNTL,downstream_gene_variant,,ENST00000534544,;ARNTL,downstream_gene_variant,,ENST00000529050,;RN7SKP151,downstream_gene_variant,,ENST00000410230,;ARNTL,upstream_gene_variant,,ENST00000497429,;ARNTL,downstream_gene_variant,,ENST00000480685,;ARNTL,downstream_gene_variant,,ENST00000485918,;	.	84	63	SUCCESS
ACAD8	27034	.	GRCh37	11	134131730	134131730	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	55	0	ENST00000281182.4:c.1038T>C	p.Asp346=	p.D346=	ENST00000281182	NM_014384.2	346	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS8498.1	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGATGCAGT	NONE	.	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF145,Pfam_domain:PF00441,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	.	.	ENSP00000281182	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000281182	Transcript	.	.	ENSG00000151498	87	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,synonymous_variant,p.%3D,ENST00000281182,;ACAD8,synonymous_variant,p.%3D,ENST00000374752,;ACAD8,synonymous_variant,p.%3D,ENST00000537423,;ACAD8,3_prime_UTR_variant,,ENST00000543332,;ACAD8,upstream_gene_variant,,ENST00000524502,;ACAD8,non_coding_transcript_exon_variant,,ENST00000524547,;ACAD8,3_prime_UTR_variant,,ENST00000524426,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527665,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,downstream_gene_variant,,ENST00000528325,;ACAD8,downstream_gene_variant,,ENST00000527082,;ACAD8,downstream_gene_variant,,ENST00000534433,;ACAD8,downstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000527713,;ACAD8,downstream_gene_variant,,ENST00000530533,;ACAD8,downstream_gene_variant,,ENST00000534240,;ACAD8,downstream_gene_variant,,ENST00000525961,;	1144	55	23	SUCCESS
CCDC73	493860	.	GRCh37	11	32657339	32657339	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	113	0	ENST00000335185.5:c.1088del	p.Asn363MetfsTer38	p.N363Mfs*38	ENST00000335185	NM_001008391.3	363	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS41630.1	1088	INDELOCATOR*|VARSCANI*|PINDEL	.	AATTCATTTTTA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000335325	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000335185	Transcript	.	.	ENSG00000186714	23261	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD73_HUMAN	CCDC73	HGNC	.	.	UPI000066725E	deletion	CCDC73,frameshift_variant,p.Asn14MetfsTer34,ENST00000528333,;CCDC73,frameshift_variant,p.Asn363MetfsTer38,ENST00000335185,;CCDC73,non_coding_transcript_exon_variant,,ENST00000534415,;	1132	113	101	SUCCESS
PAH	5053	.	GRCh37	12	103237549	103237549	+	synonymous_variant	Silent	SNP	T	T	C	rs376480977	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	48	0	ENST00000553106.1:c.1074A>G	p.Leu358=	p.L358=	ENST00000553106	NM_000277.1	358	ttA/ttG	0	A:0	.	.	.	.	C	L	protein_coding	YES	CCDS9092.1	1074	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGATAAGCA	NONE	byFrequency|byCluster	.	Prints_domain:PR00372,Superfamily_domains:SSF56534,PIRSF_domain:PIRSF000336,Pfam_domain:PF00351,TIGRFAM_domain:TIGR01268,Gene3D:1.10.800.10,hmmpanther:PTHR11473,PROSITE_profiles:PS51410	.	A:0.0001	ENSP00000448059	.	11/13	.	.	.	.	.	.	.	.	rs376480977	11/13	PASS	ENST00000553106	Transcript	.	.	ENSG00000171759	8582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PH4H_HUMAN	PAH	HGNC	F8W1D4_HUMAN,F8W0A0_HUMAN	.	UPI00001318A0	SNV	PAH,synonymous_variant,p.%3D,ENST00000553106,;PAH,synonymous_variant,p.%3D,ENST00000307000,;PAH,non_coding_transcript_exon_variant,,ENST00000549247,;PAH,non_coding_transcript_exon_variant,,ENST00000551114,;	1547	48	49	SUCCESS
RPLP0	6175	.	GRCh37	12	120636498	120636498	+	synonymous_variant	Silent	SNP	G	G	A	rs138718343	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	63	0	ENST00000228306.4:c.510C>T	p.Ser170=	p.S170=	ENST00000228306	NM_053275.3	170	agC/agT	0	A:0	.	.	.	.	A	S	protein_coding	YES	CCDS9193.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGCTGGC	NONE	byCluster	.	hmmpanther:PTHR21141:SF3,hmmpanther:PTHR21141	.	A:0.0003	ENSP00000449328	.	5/7	.	.	.	.	.	.	.	.	rs138718343	5/7	PASS	ENST00000551150	Transcript	.	.	ENSG00000089157	10371	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RLA0_HUMAN	RPLP0	HGNC	F8VU65_HUMAN	.	UPI0000134221	SNV	RPLP0,synonymous_variant,p.%3D,ENST00000546990,;RPLP0,synonymous_variant,p.%3D,ENST00000551150,;RPLP0,synonymous_variant,p.%3D,ENST00000550856,;RPLP0,synonymous_variant,p.%3D,ENST00000228306,;RPLP0,synonymous_variant,p.%3D,ENST00000392514,;RPLP0,synonymous_variant,p.%3D,ENST00000547211,;RPLP0,intron_variant,,ENST00000313104,;RPLP0,intron_variant,,ENST00000546989,;RPLP0,downstream_gene_variant,,ENST00000551914,;RPLP0,downstream_gene_variant,,ENST00000547191,;RPLP0,upstream_gene_variant,,ENST00000552292,;GCN1L1,upstream_gene_variant,,ENST00000300648,;RPLP0,downstream_gene_variant,,ENST00000550423,;PXN-AS1,upstream_gene_variant,,ENST00000539446,;PXN-AS1,upstream_gene_variant,,ENST00000542265,;PXN-AS1,upstream_gene_variant,,ENST00000542314,;PXN-AS1,upstream_gene_variant,,ENST00000535200,;PXN-AS1,upstream_gene_variant,,ENST00000538804,;RPLP0,downstream_gene_variant,,ENST00000550296,;RPLP0,downstream_gene_variant,,ENST00000551336,;RPLP0,3_prime_UTR_variant,,ENST00000549098,;RPLP0,3_prime_UTR_variant,,ENST00000547173,;RPLP0,3_prime_UTR_variant,,ENST00000547475,;RPLP0,3_prime_UTR_variant,,ENST00000551258,;RPLP0,non_coding_transcript_exon_variant,,ENST00000546564,;RPLP0,non_coding_transcript_exon_variant,,ENST00000552461,;RPLP0,non_coding_transcript_exon_variant,,ENST00000548568,;RPLP0,downstream_gene_variant,,ENST00000552902,;RPLP0,downstream_gene_variant,,ENST00000551783,;RPLP0,downstream_gene_variant,,ENST00000548551,;RPLP0,upstream_gene_variant,,ENST00000551217,;RPLP0,downstream_gene_variant,,ENST00000548495,;RPLP0,downstream_gene_variant,,ENST00000549242,;	826	63	48	SUCCESS
KMT2D	8085	.	GRCh37	12	49425062	49425062	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	53	0	ENST00000301067.7:c.13426del	p.Thr4476LeufsTer43	p.T4476Lfs*43	ENST00000301067	NM_003482.3	4476	Act/ct	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS44873.1	13426	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCAGTGCTGA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	39/54	.	.	.	.	.	.	.	.	.	39/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	deletion	KMT2D,frameshift_variant,p.Thr4476LeufsTer43,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,non_coding_transcript_exon_variant,,ENST00000552391,;	13426	53	52	SUCCESS
R3HDM2	22864	.	GRCh37	12	57663679	57663679	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	66	0	ENST00000347140.3:c.1401T>C	p.Leu467=	p.L467=	ENST00000347140		467	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8937.2	1401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATAAGTGG	NONE	.	.	hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672	.	.	ENSP00000317903	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000347140	Transcript	.	.	ENSG00000179912	29167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R3HD2_HUMAN	R3HDM2	HGNC	C9J7N6_HUMAN	.	UPI00005A60D3	SNV	R3HDM2,synonymous_variant,p.%3D,ENST00000413953,;R3HDM2,synonymous_variant,p.%3D,ENST00000402412,;R3HDM2,synonymous_variant,p.%3D,ENST00000429355,;R3HDM2,synonymous_variant,p.%3D,ENST00000403821,;R3HDM2,synonymous_variant,p.%3D,ENST00000347140,;R3HDM2,synonymous_variant,p.%3D,ENST00000358907,;R3HDM2,synonymous_variant,p.%3D,ENST00000441731,;R3HDM2,upstream_gene_variant,,ENST00000548161,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000466401,;R3HDM2,upstream_gene_variant,,ENST00000546843,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;	1792	66	59	SUCCESS
TAPBPL	55080	.	GRCh37	12	6570035	6570035	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	45	0	ENST00000266556.7:c.1222T>G	p.Leu408Val	p.L408V	ENST00000266556	NM_018009.4	408	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS8546.1	1222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCTTGGGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23411:SF3,hmmpanther:PTHR23411	.	.	ENSP00000266556	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000266556	Transcript	.	.	ENSG00000139192	30683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.55)	.	TPSNR_HUMAN	TAPBPL	HGNC	.	.	UPI000013D6F6	SNV	TAPBPL,missense_variant,p.Leu408Val,ENST00000266556,;VAMP1,downstream_gene_variant,,ENST00000396308,;VAMP1,downstream_gene_variant,,ENST00000361716,;TAPBPL,downstream_gene_variant,,ENST00000544021,;VAMP1,downstream_gene_variant,,ENST00000535180,;VAMP1,downstream_gene_variant,,ENST00000400911,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000542160,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;VAMP1,downstream_gene_variant,,ENST00000539047,;TAPBPL,upstream_gene_variant,,ENST00000544289,;VAMP1,downstream_gene_variant,,ENST00000544432,;VAMP1,downstream_gene_variant,,ENST00000535927,;VAMP1,downstream_gene_variant,,ENST00000538970,;	1387	45	34	SUCCESS
MYF6	4618	.	GRCh37	12	81101780	81101780	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	24	0	ENST00000228641.3:c.282G>A	p.Arg94=	p.R94=	ENST00000228641	NM_002469.2	94	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS9019.1	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCGGCGAAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50888,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00520,Superfamily_domains:SSF47459	.	.	ENSP00000228641	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000228641	Transcript	.	.	ENSG00000111046	7566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYF6_HUMAN	MYF6	HGNC	.	.	UPI0000001050	SNV	MYF6,synonymous_variant,p.%3D,ENST00000228641,;	504	24	23	SUCCESS
ALG5	29880	.	GRCh37	13	37524129	37524129	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	.	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	46	0	ENST00000239891.3:c.925C>T	p.Arg309Ter	p.R309*	ENST00000239891	NM_013338.4	309	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS9361.1	925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCGAAGTC	SITE|p.R309*|c.925C>T|3	.	.	hmmpanther:PTHR10859,hmmpanther:PTHR10859:SF42,Superfamily_domains:SSF53448	.	.	ENSP00000239891	.	10/10	.	.	.	.	.	.	.	.	COSM175957	10/10	PASS	ENST00000239891	Transcript	.	.	ENSG00000120697	20266	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ALG5_HUMAN	ALG5	HGNC	.	.	UPI000012583A	SNV	ALG5,stop_gained,p.Arg279Ter,ENST00000443765,;ALG5,stop_gained,p.Arg309Ter,ENST00000239891,;ALG5,downstream_gene_variant,,ENST00000413537,;ALG5,non_coding_transcript_exon_variant,,ENST00000486410,;ALG5,downstream_gene_variant,,ENST00000460230,;	992	46	27	SUCCESS
PCDH17	27253	.	GRCh37	13	58299074	58299074	+	synonymous_variant	Silent	SNP	G	G	C	rs534412507	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	64	0	ENST00000377918.3:c.3126G>C	p.Ala1042=	p.A1042=	ENST00000377918	NM_001040429.2	1042	gcG/gcC	0	.	A:0	.	A:0	.	C	A	protein_coding	YES	CCDS31986.1	3126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGTGCAT	NONE	byCluster|by1000G	.	.	A:0.001	.	ENSP00000367151	A:0	4/4	.	.	.	.	.	.	.	.	rs534412507	4/4	PASS	ENST00000377918	Transcript	.	A:0.0002	ENSG00000118946	14267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PCD17_HUMAN	PCDH17	HGNC	.	.	UPI00001FCE5B	SNV	PCDH17,synonymous_variant,p.%3D,ENST00000377918,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	3152	64	35	SUCCESS
TBC1D4	9882	.	GRCh37	13	75884197	75884197	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs531614085	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	87	0	ENST00000377636.3:c.2474A>T	p.Asp825Val	p.D825V	ENST00000377636	NM_014832.2	825	gAt/gTt	0	.	A:0	.	A:0	.	A	D/V	protein_coding	YES	CCDS41901.1	2474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATCCTCC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF195,Pfam_domain:PF11830	A:0	.	ENSP00000366863	A:0	14/21	.	.	.	.	.	.	.	.	rs531614085	14/21	PASS	ENST00000377636	Transcript	.	A:0.0004	ENSG00000136111	19165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.704)	A:0.002	tolerated(0.26)	.	TBCD4_HUMAN	TBC1D4	HGNC	.	.	UPI00001AE7B3	SNV	TBC1D4,missense_variant,p.Asp274Val,ENST00000413735,;TBC1D4,missense_variant,p.Asp42Val,ENST00000425511,;TBC1D4,missense_variant,p.Asp762Val,ENST00000377625,;TBC1D4,missense_variant,p.Asp817Val,ENST00000431480,;TBC1D4,missense_variant,p.Asp825Val,ENST00000377636,;TBC1D4,non_coding_transcript_exon_variant,,ENST00000493487,;TBC1D4,downstream_gene_variant,,ENST00000488955,;	2821	87	57	SUCCESS
ANGEL1	23357	.	GRCh37	14	77275409	77275409	+	synonymous_variant	Silent	SNP	T	T	C	rs747135494	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	36	0	ENST00000251089.2:c.642A>G	p.Pro214=	p.P214=	ENST00000251089	NM_015305.3	214	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9852.1	642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATATGGTAT	NONE	.	.	hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF28	.	.	ENSP00000251089	.	2/10	.	.	.	.	.	.	.	.	rs747135494	2/10	PASS	ENST00000251089	Transcript	.	.	ENSG00000013523	19961	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGE1_HUMAN	ANGEL1	HGNC	G3V5C4_HUMAN	.	UPI0000139C7E	SNV	ANGEL1,synonymous_variant,p.%3D,ENST00000251089,;ANGEL1,upstream_gene_variant,,ENST00000555079,;ANGEL1,upstream_gene_variant,,ENST00000557179,;ANGEL1,downstream_gene_variant,,ENST00000554941,;ANGEL1,downstream_gene_variant,,ENST00000557497,;ANGEL1,downstream_gene_variant,,ENST00000556298,;	755	36	35	SUCCESS
MAGEL2	54551	.	GRCh37	15	23889381	23889381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	47	0	ENST00000532292.1:c.1700G>T	p.Arg567Met	p.R567M	ENST00000532292	NM_019066.4	567	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	.	1700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGCCTGTAC	NONE	.	.	Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838	.	.	ENSP00000433433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000532292	Transcript	1	.	ENSG00000254585	6814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	MAGEL2	HGNC	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN	.	UPI00005A89F6	SNV	MAGEL2,missense_variant,p.Arg567Met,ENST00000532292,;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;	1795	47	26	SUCCESS
NDNL2	0	.	GRCh37	15	29561699	29561699	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1220127008	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	20	0	ENST00000332303.4:c.211G>T	p.Ala71Ser	p.A71S	ENST00000332303	NM_138704.3	71	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10023.1	211	MUTECT|MUSE	.	CTGGGCCCGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF51,hmmpanther:PTHR11736	.	.	ENSP00000330694	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332303	Transcript	.	.	ENSG00000185115	7677	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	MAGG1_HUMAN	NDNL2	HGNC	.	.	UPI000004E578	SNV	NDNL2,missense_variant,p.Ala71Ser,ENST00000332303,;FAM189A1,intron_variant,,ENST00000261275,;FAM189A1,intron_variant,,ENST00000560082,;	335	20	14	SUCCESS
PLCB2	5330	.	GRCh37	15	40584571	40584571	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	40	0	ENST00000260402.3:c.2400G>A	p.Glu800=	p.E800=	ENST00000260402	NM_004573.2	800	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS42020.1	2400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCTCCAG	NONE	.	.	hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Gene3D:2.60.40.150,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF49562	.	.	ENSP00000260402	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000260402	Transcript	.	.	ENSG00000137841	9055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB2_HUMAN	PLCB2	HGNC	H0YNI4_HUMAN	.	UPI0000D79B75	SNV	PLCB2,synonymous_variant,p.%3D,ENST00000260402,;PLCB2,synonymous_variant,p.%3D,ENST00000557821,;PLCB2,synonymous_variant,p.%3D,ENST00000456256,;PLCB2,upstream_gene_variant,,ENST00000559671,;PLCB2,synonymous_variant,p.%3D,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000561378,;PLCB2,upstream_gene_variant,,ENST00000558505,;PLCB2,upstream_gene_variant,,ENST00000560009,;PLCB2,upstream_gene_variant,,ENST00000559618,;PLCB2,downstream_gene_variant,,ENST00000558409,;PLCB2,upstream_gene_variant,,ENST00000560701,;PLCB2,upstream_gene_variant,,ENST00000559381,;	2650	40	29	SUCCESS
CAPN3	825	.	GRCh37	15	42698130	42698151	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAAAAAACCAAGGTAGGTGTGT	AAAAAAACCAAGGTAGGTGTGT	CAAAAA	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	AAAAAAACCAAGGTAGGTGTGT	AAAAAAACCAAGGTAGGTGTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	144	0	ENST00000397163.3:c.1789_1800+10delinsCAAAAA		p.X597_splice	ENST00000397163	NM_000070.2	597		0	.	.	.	.	.	CAAAAA	.	protein_coding	YES	CCDS45245.1	1789-?	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	AAAAAGAAAAAAACCAAGGTAGGTGTGTGGGTA	NONE	.	.	.	.	.	ENSP00000380349	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000397163	Transcript	1	.	ENSG00000092529	1480	.	.	HIGH	15/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN3_HUMAN	CAPN3	HGNC	H3BS30_HUMAN	.	UPI000000103F	substitution	CAPN3,splice_donor_variant,,ENST00000397204,;CAPN3,splice_donor_variant,,ENST00000567071,;CAPN3,splice_donor_variant,,ENST00000565559,;CAPN3,splice_donor_variant,,ENST00000397163,;CAPN3,splice_donor_variant,,ENST00000569136,;CAPN3,splice_donor_variant,,ENST00000397200,;CAPN3,intron_variant,,ENST00000349748,;CAPN3,intron_variant,,ENST00000569827,;CAPN3,intron_variant,,ENST00000356316,;CAPN3,intron_variant,,ENST00000318023,;CAPN3,intron_variant,,ENST00000561817,;CAPN3,intron_variant,,ENST00000357568,;CAPN3,intron_variant,,ENST00000337571,;CAPN3,upstream_gene_variant,,ENST00000564503,;RP11-164J13.1,intron_variant,,ENST00000466369,;RP11-164J13.1,intron_variant,,ENST00000495723,;RP11-164J13.1,intron_variant,,ENST00000549793,;RP11-164J13.1,downstream_gene_variant,,ENST00000483208,;CAPN3,upstream_gene_variant,,ENST00000562199,;CAPN3,splice_donor_variant,,ENST00000565274,;CAPN3,intron_variant,,ENST00000565173,;CAPN3,upstream_gene_variant,,ENST00000568153,;CAPN3,upstream_gene_variant,,ENST00000567817,;CAPN3,upstream_gene_variant,,ENST00000466222,;	2008-?	144	74	SUCCESS
THUMPD1	55623	.	GRCh37	16	20749100	20749100	+	synonymous_variant	Silent	SNP	T	T	C	rs1284171752	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	55	251	1	ENST00000381337.2:c.585A>G	p.Thr195=	p.T195=	ENST00000381337	NM_017736.3	195	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10588.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAATGTCCC	NONE	.	.	PROSITE_profiles:PS51165,hmmpanther:PTHR13452,hmmpanther:PTHR13452:SF6,Pfam_domain:PF02926,SMART_domains:SM00981,Superfamily_domains:SSF143437	.	.	ENSP00000370741	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000381337	Transcript	.	.	ENSG00000066654	23807	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THUM1_HUMAN	THUMPD1	HGNC	O60362_HUMAN,B4DFY9_HUMAN	.	UPI000007226C	SNV	THUMPD1,synonymous_variant,p.%3D,ENST00000381337,;THUMPD1,synonymous_variant,p.%3D,ENST00000396083,;THUMPD1,synonymous_variant,p.%3D,ENST00000431224,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;THUMPD1,3_prime_UTR_variant,,ENST00000565248,;THUMPD1,non_coding_transcript_exon_variant,,ENST00000570231,;THUMPD1,downstream_gene_variant,,ENST00000569768,;	930	252	174	SUCCESS
MRPL45	84311	.	GRCh37	17	36478418	36478418	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	45	0	ENST00000312513.5:c.861G>C	p.Leu287=	p.L287=	ENST00000312513	NM_001278279.1	287	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS11326.1	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGAAACC	NONE	.	.	.	.	.	ENSP00000308901	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000312513	Transcript	.	.	ENSG00000174100	16651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM45_HUMAN	MRPL45	HGNC	.	.	UPI000013FDDF	SNV	MRPL45,synonymous_variant,p.%3D,ENST00000312513,;GPR179,downstream_gene_variant,,ENST00000342292,;MRPL45,downstream_gene_variant,,ENST00000582535,;GPR179,downstream_gene_variant,,ENST00000584976,;MRPL45,3_prime_UTR_variant,,ENST00000579911,;MRPL45,downstream_gene_variant,,ENST00000580762,;	1022	45	38	SUCCESS
CISD3	284106	.	GRCh37	17	36887631	36887631	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	34	0	ENST00000439660.2:c.143A>C	p.Lys48Thr	p.K48T	ENST00000439660	NM_001136498.1	48	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS45662.1	143	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATCAAGGTGG	NONE	.	.	hmmpanther:PTHR13680:SF20,hmmpanther:PTHR13680,Pfam_domain:PF09360,SMART_domains:SM00704	.	.	ENSP00000391402	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000439660	Transcript	.	.	ENSG00000230055	27578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.903)	.	deleterious(0)	.	CISD3_HUMAN	CISD3	HGNC	.	.	UPI0000160913	SNV	CISD3,missense_variant,p.Lys48Thr,ENST00000439660,;PCGF2,downstream_gene_variant,,ENST00000578109,;MLLT6,downstream_gene_variant,,ENST00000325718,;PCGF2,downstream_gene_variant,,ENST00000579882,;AC006449.1,upstream_gene_variant,,ENST00000595377,;PCGF2,downstream_gene_variant,,ENST00000585100,;PCGF2,downstream_gene_variant,,ENST00000581345,;PCGF2,downstream_gene_variant,,ENST00000578487,;PCGF2,downstream_gene_variant,,ENST00000360797,;PCGF2,downstream_gene_variant,,ENST00000580830,;RNA5SP440,downstream_gene_variant,,ENST00000363245,;CISD3,non_coding_transcript_exon_variant,,ENST00000578573,;MLLT6,downstream_gene_variant,,ENST00000582830,;CISD3,non_coding_transcript_exon_variant,,ENST00000581668,;MLLT6,downstream_gene_variant,,ENST00000484263,;MLLT6,downstream_gene_variant,,ENST00000494578,;	267	34	21	SUCCESS
IGFBP4	3487	.	GRCh37	17	38610218	38610218	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	26	0	ENST00000269593.4:c.546G>A	p.Leu182=	p.L182=	ENST00000269593	NM_001552.2	182	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11367.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCTGGAGCG	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF7,Gene3D:4.10.800.10,Pfam_domain:PF00086,Superfamily_domains:SSF57610,Prints_domain:PR01976	.	.	ENSP00000269593	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000269593	Transcript	.	.	ENSG00000141753	5473	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IBP4_HUMAN	IGFBP4	HGNC	B4E351_HUMAN	.	UPI0000035977	SNV	IGFBP4,synonymous_variant,p.%3D,ENST00000269593,;IGFBP4,synonymous_variant,p.%3D,ENST00000542955,;	821	26	16	SUCCESS
LPO	4025	.	GRCh37	17	56332171	56332171	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	44	0	ENST00000262290.4:c.1106-1G>A		p.X369_splice	ENST00000262290	NM_006151.2	369		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32689.1	.	RADIA|MUTECT|MUSE	.	TTTCAGGAGAT	NONE	.	.	.	.	.	ENSP00000262290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262290	Transcript	.	.	ENSG00000167419	6678	.	.	HIGH	8/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PERL_HUMAN	LPO	HGNC	J3QSD8_HUMAN,F5H386_HUMAN	.	UPI0000131631	SNV	LPO,splice_acceptor_variant,,ENST00000421678,;LPO,splice_acceptor_variant,,ENST00000262290,;LPO,splice_acceptor_variant,,ENST00000543544,;LPO,splice_acceptor_variant,,ENST00000582328,;LPO,splice_acceptor_variant,,ENST00000580890,;LPO,splice_acceptor_variant,,ENST00000389576,;LPO,downstream_gene_variant,,ENST00000578403,;LPO,downstream_gene_variant,,ENST00000580346,;LPO,downstream_gene_variant,,ENST00000578643,;	.	44	30	SUCCESS
DDX42	11325	.	GRCh37	17	61882440	61882440	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	14	130	1	ENST00000389924.2:c.631C>G	p.Pro211Ala	p.P211A	ENST00000389924	NM_203499.2	211	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS32704.1	631	MUTECT|MUSE	.	ACTATCCACCA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF125	.	.	ENSP00000464050	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000578681	Transcript	.	.	ENSG00000198231	18676	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.25)	.	DDX42_HUMAN	DDX42	HGNC	J3QRI2_HUMAN,B3KMI4_HUMAN	.	UPI000017DA3D	SNV	DDX42,missense_variant,p.Pro211Ala,ENST00000389924,;DDX42,missense_variant,p.Pro211Ala,ENST00000578681,;DDX42,missense_variant,p.Pro211Ala,ENST00000583590,;DDX42,missense_variant,p.Pro92Ala,ENST00000359353,;DDX42,missense_variant,p.Pro211Ala,ENST00000457800,;DDX42,3_prime_UTR_variant,,ENST00000578137,;DDX42,3_prime_UTR_variant,,ENST00000577940,;DDX42,3_prime_UTR_variant,,ENST00000584261,;DDX42,non_coding_transcript_exon_variant,,ENST00000579511,;DDX42,non_coding_transcript_exon_variant,,ENST00000577978,;DDX42,upstream_gene_variant,,ENST00000584010,;	1232	132	166	SUCCESS
FAM104A	84923	.	GRCh37	17	71208818	71208818	+	intron_variant	Intron	SNP	G	G	A	rs749964305	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	98	0	ENST00000403627.3:c.322-2911C>T		p.*108*	ENST00000403627	NM_032837.2	128		0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45766.1	383	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCGCAG	NONE	byFrequency	.	Pfam_domain:PF15434	.	.	ENSP00000384832	.	3/4	.	.	.	.	.	.	.	.	rs749964305	3/4	PASS	ENST00000405159	Transcript	.	.	ENSG00000133193	25918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.17)	.	F104A_HUMAN	FAM104A	HGNC	J3KT35_HUMAN	.	UPI00005A9549	SNV	FAM104A,missense_variant,p.Ala17Val,ENST00000580032,;FAM104A,missense_variant,p.Ala61Val,ENST00000579872,;FAM104A,missense_variant,p.Ala128Val,ENST00000405159,;FAM104A,intron_variant,,ENST00000403627,;FAM104A,intron_variant,,ENST00000583024,;FAM104A,intron_variant,,ENST00000581110,;COG1,downstream_gene_variant,,ENST00000582512,;COG1,downstream_gene_variant,,ENST00000438720,;COG1,downstream_gene_variant,,ENST00000299886,;COG1,downstream_gene_variant,,ENST00000582672,;FAM104A,intron_variant,,ENST00000583178,;COG1,downstream_gene_variant,,ENST00000582973,;	448	98	81	SUCCESS
ZACN	353174	.	GRCh37	17	74077286	74077287	+	intron_variant	Intron	DEL	CA	CA	-	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	30	0	ENST00000334586.5:c.545-73_545-72del		p.*182*	ENST00000334586	NM_180990.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45782.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGCTCCAGTCTG	NONE	.	1185	.	.	.	ENSP00000334100	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	deletion	EXOC7,3_prime_UTR_variant,,ENST00000589210,;EXOC7,3_prime_UTR_variant,,ENST00000332065,;EXOC7,3_prime_UTR_variant,,ENST00000607838,;ZACN,intron_variant,,ENST00000334586,;ZACN,downstream_gene_variant,,ENST00000392503,;EXOC7,downstream_gene_variant,,ENST00000357231,;GALR2,downstream_gene_variant,,ENST00000329003,;EXOC7,downstream_gene_variant,,ENST00000335146,;EXOC7,downstream_gene_variant,,ENST00000467929,;EXOC7,downstream_gene_variant,,ENST00000411744,;EXOC7,downstream_gene_variant,,ENST00000405575,;EXOC7,non_coding_transcript_exon_variant,,ENST00000591724,;EXOC7,non_coding_transcript_exon_variant,,ENST00000465252,;ZACN,non_coding_transcript_exon_variant,,ENST00000590045,;ZACN,intron_variant,,ENST00000421794,;ZACN,intron_variant,,ENST00000425015,;EXOC7,downstream_gene_variant,,ENST00000494787,;EXOC7,downstream_gene_variant,,ENST00000467586,;EXOC7,downstream_gene_variant,,ENST00000592559,;ZACN,downstream_gene_variant,,ENST00000591500,;ZACN,downstream_gene_variant,,ENST00000524242,;EXOC7,downstream_gene_variant,,ENST00000460476,;	.	30	42	SUCCESS
EXOC7	23265	.	GRCh37	17	74085293	74085293	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	37	0	ENST00000335146.7:c.1163A>T	p.Glu388Val	p.E388V	ENST00000335146		388	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS45782.1	1163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCTCGGGG	NONE	.	.	Superfamily_domains:SSF74788,Pfam_domain:PF03081,hmmpanther:PTHR12542:SF7,hmmpanther:PTHR12542	.	.	ENSP00000334100	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0.01)	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,missense_variant,p.Glu306Val,ENST00000332065,;EXOC7,missense_variant,p.Glu388Val,ENST00000335146,;EXOC7,missense_variant,p.Glu296Val,ENST00000467929,;EXOC7,missense_variant,p.Glu329Val,ENST00000411744,;EXOC7,missense_variant,p.Glu337Val,ENST00000589210,;EXOC7,missense_variant,p.Glu360Val,ENST00000405575,;EXOC7,missense_variant,p.Glu360Val,ENST00000607838,;EXOC7,missense_variant,p.Glu292Val,ENST00000357231,;EXOC7,non_coding_transcript_exon_variant,,ENST00000467586,;EXOC7,intron_variant,,ENST00000592559,;EXOC7,upstream_gene_variant,,ENST00000486053,;EXOC7,upstream_gene_variant,,ENST00000494787,;EXOC7,upstream_gene_variant,,ENST00000465252,;EXOC7,downstream_gene_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000460476,;	1217	37	31	SUCCESS
TP53	7157	.	GRCh37	17	7577509	7577509	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121912652	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	17	57	1	ENST00000269305.4:c.772G>A	p.Glu258Lys	p.E258K	ENST00000269305	NM_001126112.2	258	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS11118.1	772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GTCTTCCAGTG	SITE|p.E258K|c.772G>A|3,SITE|p.E258K|c.772G>A|43,SITE|p.E258K|c.772G>A|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.E258D|c.774A>T|3,CODON|p.E258D|c.774A>C|3,CODON|p.E258D|c.774A>T|9,CODON|p.E258D|c.774A>T|3,CODON|p.E258G|c.773A>G|9,CODON|p.E258V|c.773A>T|10,CODON|p.E258A|c.773A>C|6,BUFFER|p.?|c.782+1G>A|4,BUFFER|p.?|c.782+1G>T|12,BUFFER|p.?|c.782+1G>A|15,BUFFER|p.?|c.782+1G>A|4,BUFFER|p.?|c.782+1G>C|3,BUFFER|p.S261T|c.782G>C|3,BUFFER|p.S260_S261insX|c.780_781insNNN|3,BUFFER|p.S260S|c.780C>T|4,BUFFER|p.S260fs*85|c.778delT|3,BUFFER|p.S260C|c.779C>G|3,BUFFER|p.S260F|c.779C>T|3,BUFFER|p.D259E|c.777C>A|3,BUFFER|p.D259V|c.776A>T|17,BUFFER|p.D259V|c.776A>T|3,BUFFER|p.D259V|c.776A>T|3,BUFFER|p.D259G|c.776A>G|4,BUFFER|p.D259fs*86|c.775delG|3,BUFFER|p.D259N|c.775G>A|6,BUFFER|p.D259Y|c.775G>T|6,BUFFER|p.D259H|c.775G>C|3,BUFFER|p.D259Y|c.775G>T|23,BUFFER|p.D259Y|c.775G>T|4,BUFFER|p.D259Y|c.775G>T|6,BUFFER|p.E258*|c.772G>T|20,BUFFER|p.E258Q|c.772G>C|9,BUFFER|p.E258*|c.772G>T|8,BUFFER|p.E258*|c.772G>T|8,BUFFER|p.L257L|c.771G>A|3,BUFFER|p.L257P|c.770T>C|11,BUFFER|p.L257Q|c.770T>A|3,BUFFER|p.L257Q|c.770T>A|3,BUFFER|p.L257Q|c.770T>A|11,BUFFER|p.L257V|c.769C>G|5,BUFFER|p.T256T|c.768A>G|5,BUFFER|p.T256fs*89|c.766delA|3,BUFFER|p.T256fs*8|c.766_767insA|3,BUFFER|p.T256K|c.767C>A|4,BUFFER|p.T256A|c.766A>G|3,BUFFER|p.I255delI|c.763_765delATC|8,BUFFER|p.I255S|c.764T>G|4,BUFFER|p.I255S|c.764T>G|5,BUFFER|p.I255T|c.764T>C|7,BUFFER|p.I255N|c.764T>A|9,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255N|c.764T>A|3,BUFFER|p.I255S|c.764T>G|5,BUFFER|p.I255S|c.764T>G|10,BUFFER|p.I255delI|c.760_762delATC|3,BUFFER|p.I255fs*90|c.762delC|3,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.I255fs*9|c.762_763insN|3,BUFFER|p.I255V|c.763A>G|3,BUFFER|p.I255F|c.763A>T|8,BUFFER|p.I255F|c.763A>T|8,BUFFER|p.I255F|c.763A>T|3,BUFFER|p.I255F|c.763A>T|3,BUFFER|p.I255F|c.763A>T|25,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254S|c.761T>G|9,BUFFER|p.I254N|c.761T>A|4,BUFFER|p.I254S|c.761T>G|3,BUFFER|p.I254T|c.761T>C|3	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs121912652,CM900213,TP53_g.13409G>T,TP53_g.13409G>A,TP53_g.13409del,TP53_g.13409G>C,COSM43568,COSM10988,COSM10751,COSM45001,COSM1172461,COSM173138,COSM437486,COSM173137,COSM1172462,COSM437487,COSM3388180,COSM2744566,COSM1679494	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Glu258Lys,ENST00000413465,;TP53,missense_variant,p.Glu258Lys,ENST00000420246,;TP53,missense_variant,p.Glu258Lys,ENST00000269305,;TP53,missense_variant,p.Glu126Lys,ENST00000509690,;TP53,missense_variant,p.Glu258Lys,ENST00000359597,;TP53,missense_variant,p.Glu258Lys,ENST00000445888,;TP53,missense_variant,p.Glu258Lys,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	962	58	22	SUCCESS
MIB1	57534	.	GRCh37	18	19359600	19359600	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	51	166	0	ENST00000261537.6:c.862A>T	p.Ile288Phe	p.I288F	ENST00000261537	NM_020774.3	288	Att/Ttt	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS11871.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCATTGAT	NONE	.	.	hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52	.	.	ENSP00000261537	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000261537	Transcript	.	.	ENSG00000101752	21086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.03)	.	MIB1_HUMAN	MIB1	HGNC	B3KRA8_HUMAN	.	UPI000000D833	SNV	MIB1,missense_variant,p.Ile288Phe,ENST00000261537,;AC091038.1,downstream_gene_variant,,ENST00000582102,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;	1126	166	138	SUCCESS
CDH7	1005	.	GRCh37	18	63526260	63526260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	46	153	0	ENST00000323011.3:c.1472G>T	p.Cys491Phe	p.C491F	ENST00000323011	NM_033646.1	491	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS11993.1	1472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTGTGAAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000381058	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000397968	Transcript	.	.	ENSG00000081138	1766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CADH7_HUMAN	CDH7	HGNC	.	.	UPI000013D269	SNV	CDH7,missense_variant,p.Cys491Phe,ENST00000397968,;CDH7,missense_variant,p.Cys491Phe,ENST00000536984,;CDH7,missense_variant,p.Cys491Phe,ENST00000323011,;	1898	153	120	SUCCESS
ZNF208	7757	.	GRCh37	19	22170097	22170097	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768040186	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	131	0	ENST00000397126.4:c.147G>T	p.Lys49Asn	p.K49N	ENST00000397126	NM_007153.3	49	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS54240.1	147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCTTAAA	NONE	byFrequency	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50805	.	.	ENSP00000380315	.	3/4	.	.	.	.	.	.	.	.	rs768040186	3/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.69)	.	tolerated(0.09)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Lys49Asn,ENST00000601773,;ZNF208,missense_variant,p.Lys49Asn,ENST00000599916,;ZNF208,missense_variant,p.Lys17Asn,ENST00000597040,;ZNF208,missense_variant,p.Lys48Asn,ENST00000599723,;ZNF208,missense_variant,p.Lys49Asn,ENST00000397126,;ZNF208,downstream_gene_variant,,ENST00000601993,;	296	132	91	SUCCESS
SIRT2	22933	.	GRCh37	19	39374291	39374291	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200953200	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	57	0	ENST00000249396.7:c.607G>A	p.Glu203Lys	p.E203K	ENST00000249396	NM_012237.3	203	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS12523.1	607	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTATTCGTGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF3,Pfam_domain:PF02146,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467	.	.	ENSP00000249396	.	9/16	.	.	.	.	.	.	.	.	rs200953200,COSM4077878	9/16	PASS	ENST00000249396	Transcript	.	.	ENSG00000068903	10886	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.037)	.	tolerated(0.24)	0,1	SIR2_HUMAN	SIRT2	HGNC	F8WF57_HUMAN,E7EWX6_HUMAN,C9JZQ0_HUMAN,C9JR33_HUMAN,C9J3U7_HUMAN,B5MCS1_HUMAN	.	UPI0000070897	SNV	SIRT2,missense_variant,p.Glu203Lys,ENST00000249396,;SIRT2,missense_variant,p.Glu166Lys,ENST00000414941,;SIRT2,missense_variant,p.Glu166Lys,ENST00000407552,;SIRT2,missense_variant,p.Glu166Lys,ENST00000392081,;SIRT2,missense_variant,p.Glu203Lys,ENST00000358931,;SIRT2,3_prime_UTR_variant,,ENST00000443898,;SIRT2,3_prime_UTR_variant,,ENST00000420440,;SIRT2,non_coding_transcript_exon_variant,,ENST00000462654,;SIRT2,non_coding_transcript_exon_variant,,ENST00000479290,;SIRT2,upstream_gene_variant,,ENST00000496069,;	909	57	32	SUCCESS
MAP3K10	4294	.	GRCh37	19	40698123	40698123	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	50	0	ENST00000253055.3:c.185A>T	p.Gln62Leu	p.Q62L	ENST00000253055	NM_002446.3	62	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12549.1	185	MUTECT|MUSE	.	CGGGCAGCTCC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370,Gene3D:2.30.30.40,Pfam_domain:PF14604,PIRSF_domain:PIRSF000556,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452	.	.	ENSP00000253055	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000253055	Transcript	.	.	ENSG00000130758	6849	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.061)	.	deleterious(0)	.	M3K10_HUMAN	MAP3K10	HGNC	.	.	UPI000013CDAC	SNV	MAP3K10,missense_variant,p.Gln62Leu,ENST00000253055,;MAP3K10,upstream_gene_variant,,ENST00000593906,;	473	50	29	SUCCESS
PLD3	23646	.	GRCh37	19	40872766	40872766	+	synonymous_variant	Silent	SNP	C	C	T	rs375652785	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	45	0	ENST00000356508.5:c.189C>T	p.Gly63=	p.G63=	ENST00000356508	NM_001031696.2	63	ggC/ggT	0	T:0.0002	.	.	.	.	T	G	protein_coding	YES	CCDS33027.1	189	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGGCGACTT	NONE	.	.	hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16,Superfamily_domains:SSF56024	.	T:0	ENSP00000387050	.	5/13	.	.	.	.	.	.	.	.	rs375652785,COSM3404236	5/13	PASS	ENST00000409587	Transcript	.	.	ENSG00000105223	17158	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PLD3_HUMAN	PLD3	HGNC	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN	.	UPI000004FA75	SNV	PLD3,synonymous_variant,p.%3D,ENST00000594908,;PLD3,synonymous_variant,p.%3D,ENST00000602131,;PLD3,synonymous_variant,p.%3D,ENST00000409419,;PLD3,synonymous_variant,p.%3D,ENST00000359274,;PLD3,synonymous_variant,p.%3D,ENST00000409587,;PLD3,synonymous_variant,p.%3D,ENST00000409735,;PLD3,synonymous_variant,p.%3D,ENST00000599685,;PLD3,synonymous_variant,p.%3D,ENST00000409281,;PLD3,synonymous_variant,p.%3D,ENST00000392032,;PLD3,synonymous_variant,p.%3D,ENST00000596682,;PLD3,synonymous_variant,p.%3D,ENST00000356508,;PLD3,downstream_gene_variant,,ENST00000598962,;PLD3,upstream_gene_variant,,ENST00000599353,;PLD3,upstream_gene_variant,,ENST00000596470,;PLD3,downstream_gene_variant,,ENST00000600948,;PLD3,downstream_gene_variant,,ENST00000600479,;PLD3,downstream_gene_variant,,ENST00000594085,;PLD3,non_coding_transcript_exon_variant,,ENST00000493006,;PLD3,non_coding_transcript_exon_variant,,ENST00000485448,;PLD3,upstream_gene_variant,,ENST00000475983,;PLD3,upstream_gene_variant,,ENST00000492243,;PLD3,upstream_gene_variant,,ENST00000480030,;PLD3,downstream_gene_variant,,ENST00000464586,;	586	45	30	SUCCESS
CEACAM8	1088	.	GRCh37	19	43098033	43098033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	39	0	ENST00000244336.5:c.84G>T	p.Trp28Cys	p.W28C	ENST00000244336	NM_001816.3	28	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS12610.1	84	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGTTCCAGAA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF60,hmmpanther:PTHR19955	.	.	ENSP00000244336	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000244336	Transcript	.	.	ENSG00000124469	1820	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CEAM8_HUMAN	CEACAM8	HGNC	Q0Z7S6_HUMAN	.	UPI00000012A3	SNV	CEACAM8,missense_variant,p.Trp28Cys,ENST00000244336,;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;	186	39	42	SUCCESS
PSG9	5678	.	GRCh37	19	43762554	43762554	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	29	0	ENST00000270077.3:c.1043A>G	p.Glu348Gly	p.E348G	ENST00000270077	NM_002784.3	348	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS12618.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTTCTCCT	BUFFER|p.L350L|c.1050C>T|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126,PROSITE_profiles:PS50835	.	.	ENSP00000270077	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000270077	Transcript	.	.	ENSG00000183668	9526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated(0.05)	.	PSG9_HUMAN	PSG9	HGNC	Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN	.	UPI00001327A5	SNV	PSG9,missense_variant,p.Glu255Gly,ENST00000593948,;PSG9,missense_variant,p.Glu255Gly,ENST00000244293,;PSG9,missense_variant,p.Glu255Gly,ENST00000443718,;PSG9,missense_variant,p.Glu255Gly,ENST00000418820,;PSG9,missense_variant,p.Glu162Gly,ENST00000596730,;PSG9,missense_variant,p.Glu162Gly,ENST00000291752,;PSG9,missense_variant,p.Glu348Gly,ENST00000270077,;PSG9,non_coding_transcript_exon_variant,,ENST00000595404,;	1140	29	18	SUCCESS
HDGFL2	0	.	GRCh37	19	4498350	4498350	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	22	0	ENST00000301284.4:c.1450T>C	p.Phe484Leu	p.F484L	ENST00000301284	NM_001001520.1	484	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS42472.1	1450	MUTECT|MUSE	.	TCAAGTTTGCC	NONE	.	.	hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF18,Gene3D:1.20.930.10,Pfam_domain:PF11467,Superfamily_domains:0051900	.	.	ENSP00000301284	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000301284	Transcript	.	.	ENSG00000167674	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.294)	.	tolerated(0.05)	.	HDGR2_HUMAN	HDGFRP2	Uniprot_gn	K7EQ06_HUMAN,K7EJP7_HUMAN,K7EIG6_HUMAN	.	UPI000013E6F7	SNV	HDGFRP2,missense_variant,p.Phe21Leu,ENST00000592417,;HDGFRP2,missense_variant,p.Phe484Leu,ENST00000301284,;HDGFRP2,missense_variant,p.Phe484Leu,ENST00000586684,;HDGFRP2,missense_variant,p.Phe66Leu,ENST00000587016,;HDGFRP2,upstream_gene_variant,,ENST00000586428,;HDGFRP2,upstream_gene_variant,,ENST00000588271,;HDGFRP2,downstream_gene_variant,,ENST00000589486,;HDGFRP2,upstream_gene_variant,,ENST00000591328,;PLIN4,downstream_gene_variant,,ENST00000301286,;HDGFRP2,3_prime_UTR_variant,,ENST00000590872,;	1514	22	9	SUCCESS
ZNF677	342926	.	GRCh37	19	53740390	53740390	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	62	212	0	ENST00000333952.4:c.1590C>G	p.Leu530=	p.L530=	ENST00000333952		530	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS12861.1	1590	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGTGAGGTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000334394	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,synonymous_variant,p.%3D,ENST00000598513,;ZNF677,synonymous_variant,p.%3D,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000594517,;ZNF677,downstream_gene_variant,,ENST00000598806,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;	1756	212	147	SUCCESS
NLRP12	91662	.	GRCh37	19	54307234	54307234	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1285704953	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	45	0	ENST00000324134.6:c.2557C>A	p.His853Asn	p.H853N	ENST00000324134	NM_144687.3	853	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS12864.1	2557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGCCTCA	NONE	.	.	hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000319377	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.08)	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,missense_variant,p.His853Asn,ENST00000535162,;NLRP12,missense_variant,p.His853Asn,ENST00000391775,;NLRP12,missense_variant,p.His853Asn,ENST00000354278,;NLRP12,missense_variant,p.His854Asn,ENST00000391773,;NLRP12,missense_variant,p.His853Asn,ENST00000324134,;NLRP12,missense_variant,p.His854Asn,ENST00000391772,;NLRP12,missense_variant,p.His854Asn,ENST00000345770,;NLRP12,missense_variant,p.His853Asn,ENST00000351894,;NLRP12,non_coding_transcript_exon_variant,,ENST00000492915,;	2726	45	29	SUCCESS
NLRP5	126206	.	GRCh37	19	56539102	56539102	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	53	1	ENST00000390649.3:c.1503G>A	p.Leu501=	p.L501=	ENST00000390649	NM_153447.4	501	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS12938.1	1503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGCACGC	NONE	.	.	hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106	.	.	ENSP00000375063	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000390649	Transcript	.	.	ENSG00000171487	21269	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP5_HUMAN	NLRP5	HGNC	.	.	UPI00001AEEBD	SNV	NLRP5,synonymous_variant,p.%3D,ENST00000390649,;	1503	54	39	SUCCESS
AMY2A	279	.	GRCh37	1	104160634	104160634	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs371720173	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	102	376	0	ENST00000414303.2:c.227G>T	p.Arg76Ile	p.R76I	ENST00000414303	NM_000699.2	76	aGa/aTa	0	C:0.0002	C:0.0008	.	C:0	.	T	R/I	protein_coding	YES	CCDS783.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGATACC	NONE	byCluster|by1000G	.	hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445,Prints_domain:PR00110	C:0	C:0	ENSP00000397582	C:0	2/10	.	.	.	.	.	.	.	.	rs371720173	2/10	PASS	ENST00000414303	Transcript	.	C:0.0002	ENSG00000243480	477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	C:0	deleterious(0)	.	AMYP_HUMAN	AMY2A	HGNC	.	.	UPI0000000C80	SNV	AMY2A,missense_variant,p.Arg75Ile,ENST00000423678,;AMY2A,missense_variant,p.Arg76Ile,ENST00000414303,;AMY2A,upstream_gene_variant,,ENST00000497748,;	291	376	284	SUCCESS
RCOR3	55758	.	GRCh37	1	211486835	211486835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	52	1	ENST00000367005.4:c.1213A>G	p.Thr405Ala	p.T405A	ENST00000367005	NM_018254.3	405	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS44312.1	1387	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACCAACAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16089	.	.	ENSP00000413929	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,missense_variant,p.Thr181Ala,ENST00000529763,;RCOR3,missense_variant,p.Asn382Ser,ENST00000367006,;RCOR3,missense_variant,p.Thr463Ala,ENST00000419091,;RCOR3,missense_variant,p.Thr405Ala,ENST00000367005,;RCOR3,downstream_gene_variant,,ENST00000534460,;RCOR3,downstream_gene_variant,,ENST00000452621,;RCOR3,non_coding_transcript_exon_variant,,ENST00000526255,;RCOR3,non_coding_transcript_exon_variant,,ENST00000486666,;RCOR3,downstream_gene_variant,,ENST00000485186,;RCOR3,downstream_gene_variant,,ENST00000528066,;RCOR3,downstream_gene_variant,,ENST00000528926,;	1515	54	54	SUCCESS
STK40	83931	.	GRCh37	1	36809753	36809754	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	32	0	ENST00000373129.3:c.851_852del	p.Arg284GlnfsTer11	p.R284Qfs*11	ENST00000373129	NM_032017.1	284	cGC/c	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS407.1	851-852	INDELOCATOR|VARSCANI	.	GATCTTGCGGAAG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF1,PROSITE_profiles:PS50011	.	.	ENSP00000362221	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000373129	Transcript	.	.	ENSG00000196182	21373	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STK40_HUMAN	STK40	HGNC	.	.	UPI0000073E73	deletion	STK40,frameshift_variant,p.Arg284GlnfsTer11,ENST00000373132,;STK40,frameshift_variant,p.Arg284GlnfsTer11,ENST00000373129,;STK40,frameshift_variant,p.Arg289GlnfsTer11,ENST00000373130,;STK40,frameshift_variant,p.Arg284GlnfsTer11,ENST00000359297,;	1258-1259	32	17	SUCCESS
SLC4A11	83959	.	GRCh37	20	3209657	3209657	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	17	0	ENST00000380056.3:c.2067G>T	p.Arg689Ser	p.R689S	ENST00000380056	NM_032034.3	689	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS54445.1	2148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCTGCA	BUFFER|p.V691G|c.2072T>G|6,BUFFER|p.V718G|c.2153T>G|6	.	.	hmmpanther:PTHR11453:SF35,hmmpanther:PTHR11453,Pfam_domain:PF00955,Prints_domain:PR01231	.	.	ENSP00000369399	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000380059	Transcript	1	.	ENSG00000088836	16438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	.	SLC4A11	HGNC	R9UQR4_HUMAN,R9UQ67_HUMAN,R9UQ64_HUMAN,R9UQ62_HUMAN,R9UQ58_HUMAN,R9UNY3_HUMAN	.	UPI00000738A5	SNV	SLC4A11,missense_variant,p.Arg673Ser,ENST00000539553,;SLC4A11,missense_variant,p.Arg689Ser,ENST00000380056,;SLC4A11,missense_variant,p.Arg716Ser,ENST00000380059,;SLC4A11,splice_region_variant,,ENST00000488544,;SLC4A11,downstream_gene_variant,,ENST00000470631,;SLC4A11,splice_region_variant,,ENST00000474451,;	2250	17	19	SUCCESS
AAR2	25980	.	GRCh37	20	34828481	34828481	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	49	0	ENST00000320849.4:c.691G>A	p.Asp231Asn	p.D231N	ENST00000320849	NM_001271874.1	231	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS13273.1	691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGACCTG	NONE	.	.	hmmpanther:PTHR12689,Pfam_domain:PF05282	.	.	ENSP00000363043	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000373932	Transcript	.	.	ENSG00000131043	15886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AAR2_HUMAN	AAR2	HGNC	.	.	UPI00001285C6	SNV	AAR2,missense_variant,p.Asp231Asn,ENST00000320849,;AAR2,missense_variant,p.Asp231Asn,ENST00000373932,;AAR2,missense_variant,p.Asp231Asn,ENST00000397286,;	1037	49	37	SUCCESS
TCF15	6939	.	GRCh37	20	585251	585251	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755340067	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	72	0	ENST00000246080.3:c.584G>T	p.Arg195Leu	p.R195L	ENST00000246080	NM_004609.3	195	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS33432.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTCGAAGG	NONE	.	.	hmmpanther:PTHR23349:SF4,hmmpanther:PTHR23349	.	.	ENSP00000246080	.	2/2	.	.	.	.	.	.	.	.	rs755340067	2/2	PASS	ENST00000246080	Transcript	.	.	ENSG00000125878	11627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.68)	.	deleterious_low_confidence(0)	.	TCF15_HUMAN	TCF15	HGNC	.	.	UPI000013CBD4	SNV	TCF15,missense_variant,p.Arg195Leu,ENST00000246080,;	745	72	72	SUCCESS
USP25	29761	.	GRCh37	21	17238655	17238655	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	51	0	ENST00000285679.6:c.2587G>C	p.Glu863Gln	p.E863Q	ENST00000285679	NM_013396.3	863	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS33515.1	2587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGAATAT	NONE	.	.	hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006	.	.	ENSP00000285679	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000285679	Transcript	.	.	ENSG00000155313	12624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	deleterious(0.01)	.	UBP25_HUMAN	USP25	HGNC	Q9HA22_HUMAN	.	UPI000002B680	SNV	USP25,missense_variant,p.Glu933Gln,ENST00000400183,;USP25,missense_variant,p.Glu162Gln,ENST00000449491,;USP25,missense_variant,p.Glu863Gln,ENST00000285679,;USP25,missense_variant,p.Glu895Gln,ENST00000285681,;USP25,intron_variant,,ENST00000351097,;	2956	51	35	SUCCESS
DGCR6L	85359	.	GRCh37	22	20307496	20307496	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1046142818	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	34	0	ENST00000248879.3:c.16G>A	p.Ala6Thr	p.A6T	ENST00000248879	NM_033257.3	6	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13778.1	16	RADIA|VARSCANS	.	GGCGGCCGCGT	NONE	.	.	Pfam_domain:PF07324,hmmpanther:PTHR13054:SF4,hmmpanther:PTHR13054	.	.	ENSP00000248879	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000248879	Transcript	.	.	ENSG00000128185	18551	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.065)	.	tolerated_low_confidence(0.06)	.	DGC6L_HUMAN	DGCR6L	HGNC	.	.	UPI0000129216	SNV	DGCR6L,missense_variant,p.Ala6Thr,ENST00000405465,;DGCR6L,missense_variant,p.Ala6Thr,ENST00000248879,;XXbac-B444P24.14,upstream_gene_variant,,ENST00000609632,;XXbac-B444P24.13,upstream_gene_variant,,ENST00000608275,;DGCR6L,missense_variant,p.Ala6Thr,ENST00000443409,;	108	34	34	SUCCESS
LRP1B	53353	.	GRCh37	2	141299516	141299516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	110	2	ENST00000389484.3:c.7219A>G	p.Thr2407Ala	p.T2407A	ENST00000389484	NM_018557.2	2407	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2182.1	7219	RADIA|SOMATICSNIPER|VARSCANS	.	GAAAGTCCCTG	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	44/91	.	.	.	.	.	.	.	.	.	44/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.217)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Thr2407Ala,ENST00000389484,;	8191	112	80	SUCCESS
NEB	4703	.	GRCh37	2	152499357	152499357	+	synonymous_variant	Silent	SNP	T	T	C	rs1466641302	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	84	0	ENST00000172853.10:c.8187A>G	p.Lys2729=	p.K2729=	ENST00000172853		2729	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS54407.1	8187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTTTATC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	59/182	.	.	.	.	.	.	.	.	.	59/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,synonymous_variant,p.%3D,ENST00000603639,;NEB,synonymous_variant,p.%3D,ENST00000172853,;NEB,synonymous_variant,p.%3D,ENST00000427231,;NEB,synonymous_variant,p.%3D,ENST00000397345,;NEB,synonymous_variant,p.%3D,ENST00000604864,;NEB,synonymous_variant,p.%3D,ENST00000409198,;	8390	84	69	SUCCESS
NEB	4703	.	GRCh37	2	152525647	152525647	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	90	1	ENST00000172853.10:c.4507-2A>C		p.X1503_splice	ENST00000172853		1503		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54407.1	.	RADIA|MUTECT|MUSE	.	TCAACTAAAAA	NONE	.	.	.	.	.	ENSP00000380505	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	HIGH	38/181	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,splice_acceptor_variant,,ENST00000603639,;NEB,splice_acceptor_variant,,ENST00000172853,;NEB,splice_acceptor_variant,,ENST00000427231,;NEB,splice_acceptor_variant,,ENST00000397345,;NEB,splice_acceptor_variant,,ENST00000604864,;NEB,splice_acceptor_variant,,ENST00000409198,;NEB,splice_acceptor_variant,,ENST00000484968,;	.	91	74	SUCCESS
TBR1	10716	.	GRCh37	2	162273413	162273413	+	synonymous_variant	Silent	SNP	C	C	T	rs1272251716	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	74	0	ENST00000389554.3:c.492C>T	p.Ser164=	p.S164=	ENST00000389554	NM_006593.2	164	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33310.1	492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCCTCGCC	NONE	.	.	hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267	.	.	ENSP00000374205	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000389554	Transcript	.	.	ENSG00000136535	11590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBR1_HUMAN	TBR1	HGNC	Q56A81_HUMAN,B0AZS4_HUMAN	.	UPI0000136A99	SNV	TBR1,synonymous_variant,p.%3D,ENST00000389554,;TBR1,upstream_gene_variant,,ENST00000411412,;TBR1,upstream_gene_variant,,ENST00000410035,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;	809	74	46	SUCCESS
HIBCH	26275	.	GRCh37	2	191110920	191110920	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	92	0	ENST00000359678.5:c.769A>T	p.Lys257Ter	p.K257*	ENST00000359678	NM_198047.2	257	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2304.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTTGTCTC	NONE	.	.	hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941	.	.	ENSP00000352706	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000359678	Transcript	.	.	ENSG00000198130	4908	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIBCH_HUMAN	HIBCH	HGNC	B9A058_HUMAN	.	UPI000013F16E	SNV	HIBCH,stop_gained,p.Lys257Ter,ENST00000359678,;HIBCH,stop_gained,p.Lys8Ter,ENST00000416732,;HIBCH,stop_gained,p.Lys257Ter,ENST00000392332,;HIBCH,stop_gained,p.Lys37Ter,ENST00000409820,;HIBCH,stop_gained,p.Lys34Ter,ENST00000410045,;HIBCH,non_coding_transcript_exon_variant,,ENST00000485992,;HIBCH,3_prime_UTR_variant,,ENST00000392333,;	1064	92	88	SUCCESS
HK2	3099	.	GRCh37	2	75081454	75081454	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	6	95	0	ENST00000290573.2:c.98A>G	p.Asp33Gly	p.D33G	ENST00000290573	NM_000189.4	33	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1956.1	98	RADIA|MUTECT|MUSE	.	CTCTGATGAGA	BUFFER|p.R30C|c.88C>T|3	.	.	Pfam_domain:PF00349,Superfamily_domains:SSF53067	.	.	ENSP00000290573	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.472)	.	tolerated(0.13)	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,missense_variant,p.Asp5Gly,ENST00000409174,;HK2,missense_variant,p.Asp33Gly,ENST00000290573,;HK2,upstream_gene_variant,,ENST00000472302,;	698	95	66	SUCCESS
BBX	56987	.	GRCh37	3	107491784	107491817	+	frameshift_variant	Frame_Shift_Del	DEL	TTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGA	TTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGA	-	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	TTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGA	TTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	132	0	ENST00000325805.8:c.1217_1250del	p.Phe406Ter	p.F406*	ENST00000325805		406	TTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGAta/ta	0	.	.	.	.	.	-	FPDFSYSASSKI/X	protein_coding	YES	CCDS46881.1	1216-1249	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCATTTTCCTGATTTTTCTTATTCTGCCAGTAGCAAGATAATA	NONE	.	.	hmmpanther:PTHR13059	.	.	ENSP00000319974	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000325805	Transcript	.	.	ENSG00000114439	14422	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BBX_HUMAN	BBX	HGNC	Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN	.	UPI000007315E	deletion	BBX,frameshift_variant,p.Phe406Ter,ENST00000415149,;BBX,frameshift_variant,p.Phe406Ter,ENST00000402543,;BBX,frameshift_variant,p.Phe406Ter,ENST00000402163,;BBX,frameshift_variant,p.Phe406Ter,ENST00000406780,;BBX,frameshift_variant,p.Phe406Ter,ENST00000325805,;BBX,intron_variant,,ENST00000416476,;BBX,upstream_gene_variant,,ENST00000473542,;BBX,downstream_gene_variant,,ENST00000472032,;BBX,downstream_gene_variant,,ENST00000485939,;	1503-1536	132	72	SUCCESS
IL20RB	53833	.	GRCh37	3	136676881	136676881	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	28	0	ENST00000329582.4:c.-75A>G		p.*25*	ENST00000329582	NM_144717.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3093.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAAGAAAG	NONE	.	.	.	.	.	ENSP00000328133	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000329582	Transcript	.	.	ENSG00000174564	6004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I20RB_HUMAN	IL20RB	HGNC	.	.	UPI000003E7F6	SNV	IL20RB,5_prime_UTR_variant,,ENST00000329582,;IL20RB,5_prime_UTR_variant,,ENST00000309741,;IL20RB-AS1,downstream_gene_variant,,ENST00000462176,;IL20RB,non_coding_transcript_exon_variant,,ENST00000484501,;IL20RB,5_prime_UTR_variant,,ENST00000469964,;	175	28	25	SUCCESS
ZBTB38	253461	.	GRCh37	3	141163098	141163098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	69	0	ENST00000321464.5:c.1871A>G	p.Asn624Ser	p.N624S	ENST00000321464		624	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43157.1	1868	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAACACCC	NONE	.	.	hmmpanther:PTHR24397:SF23,hmmpanther:PTHR24397	.	.	ENSP00000426387	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000514251	Transcript	.	.	ENSG00000177311	26636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	ZBT38_HUMAN	ZBTB38	HGNC	Q9H6F0_HUMAN,D6RJE1_HUMAN,D6RHD1_HUMAN,D6RGK1_HUMAN,D6RE69_HUMAN,D6RC86_HUMAN,D6RBC4_HUMAN,D6RAC4_HUMAN,D6R9U6_HUMAN,D6R9J6_HUMAN,D6R9I1_HUMAN,B3KST1_HUMAN	.	UPI000020A364	SNV	ZBTB38,missense_variant,p.Asn623Ser,ENST00000441582,;ZBTB38,missense_variant,p.Asn624Ser,ENST00000321464,;ZBTB38,missense_variant,p.Asn623Ser,ENST00000509883,;ZBTB38,missense_variant,p.Asn623Ser,ENST00000514251,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000509842,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	2147	69	49	SUCCESS
GPD1L	23171	.	GRCh37	3	32181733	32181733	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	71	0	ENST00000282541.5:c.380G>A	p.Gly127Asp	p.G127D	ENST00000282541	NM_015141.3	127	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS33729.1	380	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGGCCCCG	NONE	.	.	hmmpanther:PTHR11728,hmmpanther:PTHR11728:SF7,Gene3D:3.40.50.720,Pfam_domain:PF01210,TIGRFAM_domain:TIGR03376,PIRSF_domain:PIRSF000114,Superfamily_domains:SSF51735	.	.	ENSP00000282541	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000282541	Transcript	.	.	ENSG00000152642	28956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.922)	.	tolerated(0.22)	.	GPD1L_HUMAN	GPD1L	HGNC	C9K0P5_HUMAN,C9JFA7_HUMAN,B3KWN2_HUMAN	.	UPI000006E26D	SNV	GPD1L,missense_variant,p.Gly88Asp,ENST00000431009,;GPD1L,missense_variant,p.Gly80Asp,ENST00000425459,;GPD1L,missense_variant,p.Gly127Asp,ENST00000282541,;GPD1L,missense_variant,p.Gly88Asp,ENST00000429432,;GPD1L,3_prime_UTR_variant,,ENST00000428684,;	581	71	52	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64666990	64666990	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	68	165	0	ENST00000498707.1:c.566A>T	p.Gln189Leu	p.Q189L	ENST00000498707	NM_182920.1	189	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2903.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGACTGTAGT	NONE	.	.	hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF01562	.	.	ENSP00000418735	.	3/40	.	.	.	.	.	.	.	.	.	3/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Gln189Leu,ENST00000459780,;ADAMTS9,missense_variant,p.Gln189Leu,ENST00000498707,;ADAMTS9,missense_variant,p.Gln189Leu,ENST00000295903,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000474768,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000460833,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000481312,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000485174,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;	909	165	145	SUCCESS
SETD5	55209	.	GRCh37	3	9517712	9517712	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	41	0	ENST00000402198.1:c.4266G>A	p.Val1422=	p.V1422=	ENST00000402198	NM_001080517.1	1422	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46741.1	4266	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTGCACCA	NONE	.	.	hmmpanther:PTHR16286:SF11,hmmpanther:PTHR16286	.	.	ENSP00000385852	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000402198	Transcript	.	.	ENSG00000168137	25566	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD5_HUMAN	SETD5	HGNC	C9JLM1_HUMAN,C9JLA7_HUMAN,A8K0G4_HUMAN	.	UPI0000411FEE	SNV	SETD5,synonymous_variant,p.%3D,ENST00000402466,;SETD5,synonymous_variant,p.%3D,ENST00000407969,;SETD5,synonymous_variant,p.%3D,ENST00000402198,;SETD5,synonymous_variant,p.%3D,ENST00000406341,;SETD5,synonymous_variant,p.%3D,ENST00000302463,;SETD5,intron_variant,,ENST00000399686,;SETD5,downstream_gene_variant,,ENST00000421188,;SETD5,downstream_gene_variant,,ENST00000479538,;SETD5,3_prime_UTR_variant,,ENST00000413704,;SETD5,non_coding_transcript_exon_variant,,ENST00000466242,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,downstream_gene_variant,,ENST00000486465,;SETD5,downstream_gene_variant,,ENST00000459941,;SETD5,downstream_gene_variant,,ENST00000466826,;SETD5,downstream_gene_variant,,ENST00000492939,;	4701	41	42	SUCCESS
EGF	1950	.	GRCh37	4	110862303	110862303	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	59	1	ENST00000265171.5:c.327+2T>C		p.X109_splice	ENST00000265171	NM_001963.4	109		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3689.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGTAAAAT	NONE	.	.	.	.	.	ENSP00000265171	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	HIGH	2/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,splice_donor_variant,,ENST00000503392,;EGF,splice_donor_variant,,ENST00000265171,;EGF,splice_donor_variant,,ENST00000509793,;EGF,splice_donor_variant,,ENST00000502723,;	.	60	24	SUCCESS
HS3ST1	9957	.	GRCh37	4	11401189	11401189	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	56	0	ENST00000002596.5:c.441A>G	p.Arg147=	p.R147=	ENST00000002596	NM_005114.2	147	cgA/cgG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS3408.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCTCGCAG	NONE	.	.	hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000002596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000002596	Transcript	.	.	ENSG00000002587	5194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,synonymous_variant,p.%3D,ENST00000002596,;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	1616	56	43	SUCCESS
DNAH5	1767	.	GRCh37	5	13700904	13700904	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	108	0	ENST00000265104.4:c.13568A>G	p.Asp4523Gly	p.D4523G	ENST00000265104	NM_001369.2	4523	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3882.1	13568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCGTCCTTC	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	78/79	.	.	.	.	.	.	.	.	.	78/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.822)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Asp4523Gly,ENST00000265104,;	13673	108	82	SUCCESS
PCDHA7	56141	.	GRCh37	5	140216124	140216124	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782621405	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	45	0	ENST00000525929.1:c.2156C>G	p.Thr719Arg	p.T719R	ENST00000525929	NM_018910.2	719	aCg/aGg	0	.	.	.	.	.	G	T/R	protein_coding	YES	CCDS54918.1	2156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACACGGCGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	rs782621405	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious_low_confidence(0)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Thr719Arg,ENST00000378125,;PCDHA7,missense_variant,p.Thr719Arg,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA8,upstream_gene_variant,,ENST00000531613,;PCDHA8,upstream_gene_variant,,ENST00000378123,;	2156	45	35	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140856286	140856286	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	31	0	ENST00000308177.3:c.603C>A	p.Ala201=	p.A201=	ENST00000308177	NM_002588.2	201	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4261.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCCCTGGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	SNV	PCDHGC3,synonymous_variant,p.%3D,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	707	31	25	SUCCESS
DBN1	1627	.	GRCh37	5	176894571	176894571	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773968366	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	37	0	ENST00000309007.5:c.388G>A	p.Gly130Arg	p.G130R	ENST00000309007	NM_004395.3	130	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS4421.1	394	RADIA|MUSE|VARSCANS	.	CTGCCCGATGG	NONE	byFrequency	.	Superfamily_domains:SSF55753,SMART_domains:SM00102,Gene3D:3.40.20.10,Pfam_domain:PF00241,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829,PROSITE_profiles:PS51263	.	.	ENSP00000292385	.	6/15	.	.	.	.	.	.	.	.	rs773968366	6/15	PASS	ENST00000292385	Transcript	.	.	ENSG00000113758	2695	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.963)	.	deleterious(0.03)	.	DREB_HUMAN	DBN1	HGNC	F8W9Z3_HUMAN,D6RCR4_HUMAN	.	UPI0000457395	SNV	DBN1,missense_variant,p.Gly130Arg,ENST00000309007,;DBN1,missense_variant,p.Gly67Arg,ENST00000506117,;DBN1,missense_variant,p.Gly132Arg,ENST00000292385,;DBN1,missense_variant,p.Gly129Arg,ENST00000477391,;DBN1,missense_variant,p.Gly130Arg,ENST00000393565,;DBN1,downstream_gene_variant,,ENST00000514833,;DBN1,non_coding_transcript_exon_variant,,ENST00000471767,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,downstream_gene_variant,,ENST00000505550,;	1004	37	36	SUCCESS
RAI14	26064	.	GRCh37	5	34823713	34823713	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	88	0	ENST00000265109.3:c.1766A>G	p.Asn589Ser	p.N589S	ENST00000265109	NM_015577.2	589	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS54839.1	1775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAATATGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24129	.	.	ENSP00000427123	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.06)	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,missense_variant,p.Asn581Ser,ENST00000506376,;RAI14,missense_variant,p.Asn589Ser,ENST00000265109,;RAI14,missense_variant,p.Asn582Ser,ENST00000397449,;RAI14,missense_variant,p.Asn592Ser,ENST00000515799,;RAI14,missense_variant,p.Asn589Ser,ENST00000428746,;RAI14,missense_variant,p.Asn560Ser,ENST00000512629,;RAI14,missense_variant,p.Asn589Ser,ENST00000503673,;RAI14,upstream_gene_variant,,ENST00000513772,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;	2267	88	68	SUCCESS
HAPLN1	1404	.	GRCh37	5	82940454	82940454	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	63	0	ENST00000274341.4:c.503G>T	p.Gly168Val	p.G168V	ENST00000274341	NM_001884.3	168	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4061.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCCCCAGT	BUFFER|p.R166Q|c.497G>A|3	.	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF10,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000274341	.	4/5	.	.	.	.	.	.	.	.	COSM1544415	4/5	PASS	ENST00000274341	Transcript	.	.	ENSG00000145681	2380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.989)	.	deleterious(0)	1	HPLN1_HUMAN	HAPLN1	HGNC	D6RG04_HUMAN,D6RC59_HUMAN,D6RBX9_HUMAN,D6RBS1_HUMAN	.	UPI0000131BFF	SNV	HAPLN1,missense_variant,p.Gly168Val,ENST00000510978,;HAPLN1,missense_variant,p.Gly168Val,ENST00000508307,;HAPLN1,missense_variant,p.Gly167Val,ENST00000503117,;HAPLN1,missense_variant,p.Gly168Val,ENST00000274341,;HAPLN1,downstream_gene_variant,,ENST00000504713,;	1354	63	41	SUCCESS
OPRM1	4988	.	GRCh37	6	154411035	154411035	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763023842	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	57	0	ENST00000330432.7:c.365C>G	p.Thr122Ser	p.T122S	ENST00000330432	NM_000914.3	122	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS47503.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000394624	.	4/6	.	.	.	.	.	.	.	.	rs763023842	4/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	tolerated(0.32)	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Thr122Ser,ENST00000337049,;OPRM1,missense_variant,p.Thr122Ser,ENST00000428397,;OPRM1,missense_variant,p.Thr122Ser,ENST00000360422,;OPRM1,missense_variant,p.Thr122Ser,ENST00000452687,;OPRM1,missense_variant,p.Thr122Ser,ENST00000330432,;OPRM1,missense_variant,p.Thr122Ser,ENST00000435918,;OPRM1,missense_variant,p.Thr41Ser,ENST00000518759,;OPRM1,missense_variant,p.Thr122Ser,ENST00000414028,;OPRM1,missense_variant,p.Thr122Ser,ENST00000419506,;OPRM1,missense_variant,p.Thr215Ser,ENST00000434900,;OPRM1,missense_variant,p.Thr122Ser,ENST00000524163,;OPRM1,missense_variant,p.Thr22Ser,ENST00000522236,;OPRM1,missense_variant,p.Thr22Ser,ENST00000520708,;OPRM1,missense_variant,p.Thr22Ser,ENST00000522555,;OPRM1,missense_variant,p.Thr122Ser,ENST00000229768,;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Thr122Ser,ENST00000522739,;OPRM1,missense_variant,p.Thr122Ser,ENST00000519083,;OPRM1,intron_variant,,ENST00000524150,;	1162	57	56	SUCCESS
ARID1B	57492	.	GRCh37	6	157150470	157150470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	84	0	ENST00000346085.5:c.1652G>A	p.Gly551Asp	p.G551D	ENST00000346085	NM_020732.3	551	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS55072.1	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGGCCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Gly551Asp,ENST00000367148,;ARID1B,missense_variant,p.Gly551Asp,ENST00000350026,;ARID1B,missense_variant,p.Gly50Asp,ENST00000414678,;ARID1B,missense_variant,p.Gly493Asp,ENST00000275248,;ARID1B,missense_variant,p.Gly551Asp,ENST00000346085,;ARID1B,non_coding_transcript_exon_variant,,ENST00000494260,;	1653	84	78	SUCCESS
FNDC1	84624	.	GRCh37	6	159655130	159655130	+	synonymous_variant	Silent	SNP	C	C	T	rs1363894749	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	18	58	0	ENST00000297267.9:c.3586C>T	p.Leu1196=	p.L1196=	ENST00000297267	NM_032532.2	1196	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47512.1	3586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCTGTCT	NONE	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,synonymous_variant,p.%3D,ENST00000340366,;FNDC1,synonymous_variant,p.%3D,ENST00000297267,;FNDC1,synonymous_variant,p.%3D,ENST00000329629,;	3786	58	35	SUCCESS
KAAG1	353219	.	GRCh37	6	24358008	24358008	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	29	0	ENST00000274766.1:c.141T>A	p.Ala47=	p.A47=	ENST00000274766	NM_181337.3	47	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4551.1	141	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTGCTTC	NONE	.	.	Pfam_domain:PF15354	.	.	ENSP00000274766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000274766	Transcript	.	.	ENSG00000146049	21031	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAAG1_HUMAN	KAAG1	HGNC	.	.	UPI000007370E	SNV	KAAG1,synonymous_variant,p.%3D,ENST00000274766,;DCDC2,5_prime_UTR_variant,,ENST00000378454,;DCDC2,upstream_gene_variant,,ENST00000436313,;	878	29	20	SUCCESS
YIPF3	25844	.	GRCh37	6	43480552	43480552	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762127725	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	53	0	ENST00000372422.2:c.727G>A	p.Ala243Thr	p.A243T	ENST00000372422	NM_015388.3	243	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4899.1	727	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGTGGA	NONE	byFrequency	.	hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14,Transmembrane_helices:TMhelix	.	.	ENSP00000361499	.	7/9	.	.	.	.	.	.	.	.	rs762127725	7/9	PASS	ENST00000372422	Transcript	.	.	ENSG00000137207	21023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.39)	.	YIPF3_HUMAN	YIPF3	HGNC	Q5JTD5_HUMAN,D6RGY8_HUMAN	.	UPI0000037775	SNV	YIPF3,missense_variant,p.Ala249Thr,ENST00000506469,;YIPF3,missense_variant,p.Ala209Thr,ENST00000503972,;YIPF3,missense_variant,p.Ala243Thr,ENST00000372422,;POLR1C,intron_variant,,ENST00000428025,;POLR1C,upstream_gene_variant,,ENST00000372389,;POLR1C,upstream_gene_variant,,ENST00000372344,;LRRC73,upstream_gene_variant,,ENST00000372441,;POLR1C,upstream_gene_variant,,ENST00000304004,;YIPF3,downstream_gene_variant,,ENST00000500090,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,downstream_gene_variant,,ENST00000511831,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000455768,;YIPF3,3_prime_UTR_variant,,ENST00000416380,;YIPF3,3_prime_UTR_variant,,ENST00000460547,;YIPF3,non_coding_transcript_exon_variant,,ENST00000503147,;YIPF3,non_coding_transcript_exon_variant,,ENST00000512713,;YIPF3,non_coding_transcript_exon_variant,,ENST00000514627,;YIPF3,downstream_gene_variant,,ENST00000488966,;POLR1C,upstream_gene_variant,,ENST00000455605,;YIPF3,downstream_gene_variant,,ENST00000460903,;YIPF3,downstream_gene_variant,,ENST00000502714,;POLR1C,upstream_gene_variant,,ENST00000488601,;POLR1C,upstream_gene_variant,,ENST00000481352,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,downstream_gene_variant,,ENST00000372417,;	910	53	32	SUCCESS
ING3	54556	.	GRCh37	7	120595786	120595786	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	21	0	ENST00000315870.5:c.267+108A>G		p.*89*	ENST00000315870	NM_019071.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5778.1	.	MUTECT|MUSE	.	GAAGTATTGCT	NONE	.	.	.	.	.	ENSP00000320566	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000315870	Transcript	.	.	ENSG00000071243	14587	.	.	MODIFIER	4/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ING3_HUMAN	ING3	HGNC	E7ET07_HUMAN	.	UPI00000373B3	SNV	ING3,3_prime_UTR_variant,,ENST00000445699,;ING3,intron_variant,,ENST00000431467,;ING3,intron_variant,,ENST00000339121,;ING3,intron_variant,,ENST00000315870,;ING3,intron_variant,,ENST00000427726,;	.	21	23	SUCCESS
GRM8	2918	.	GRCh37	7	126086303	126086303	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139289550	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	147	0	ENST00000339582.2:c.2554C>T	p.Arg852Cys	p.R852C	ENST00000339582		852	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS5794.1	2554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	CTTGCGTTTTT	SITE|p.R852C|c.2554C>T|3	byCluster	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF26,hmmpanther:PTHR24060	.	A:0.0001	ENSP00000344173	.	10/11	.	.	.	.	.	.	.	.	rs139289550,COSM1157877,COSM3784972	10/11	PASS	ENST00000339582	Transcript	.	.	ENSG00000179603	4600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.791)	.	deleterious(0)	0,1,1	GRM8_HUMAN	GRM8	HGNC	E7ETK3_HUMAN,C9J7I1_HUMAN	.	UPI000012F085	SNV	GRM8,missense_variant,p.Arg852Cys,ENST00000358373,;GRM8,missense_variant,p.Arg852Cys,ENST00000444921,;GRM8,missense_variant,p.Arg852Cys,ENST00000339582,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,non_coding_transcript_exon_variant,,ENST00000489939,;GRM8,missense_variant,p.Arg852Cys,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	3363	148	106	SUCCESS
PTPN12	5782	.	GRCh37	7	77240326	77240326	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	84	259	0	ENST00000248594.6:c.902A>T	p.Tyr301Phe	p.Y301F	ENST00000248594	NM_002835.3	301	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS5592.1	902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATATGAAA	NONE	.	.	PIRSF_domain:PIRSF000932,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF33	.	.	ENSP00000248594	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000248594	Transcript	.	.	ENSG00000127947	9645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.1)	.	PTN12_HUMAN	PTPN12	HGNC	F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN	.	UPI000013CC4C	SNV	PTPN12,missense_variant,p.Tyr182Phe,ENST00000415482,;PTPN12,missense_variant,p.Tyr171Phe,ENST00000435495,;PTPN12,missense_variant,p.Tyr301Phe,ENST00000248594,;PTPN12,downstream_gene_variant,,ENST00000522115,;PTPN12,non_coding_transcript_exon_variant,,ENST00000464313,;PTPN12,downstream_gene_variant,,ENST00000447995,;	1174	259	187	SUCCESS
MTSS1	9788	.	GRCh37	8	125565827	125565828	+	stop_gained	Nonsense_Mutation	INS	-	-	TAT	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	117	0	ENST00000518547.1:c.1673_1674insATA	p.Ser557_Tyr558insTer	p.S557_Y558ins*	ENST00000518547	NM_014751.4	558	tac/taATAc	0	.	.	.	.	.	TAT	Y/*Y	protein_coding	YES	CCDS6353.1	1673-1674	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTCGGTAGGA	NONE	.	.	hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10	.	.	ENSP00000429064	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000518547	Transcript	.	.	ENSG00000170873	20443	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTSS1_HUMAN	MTSS1	HGNC	E5RJX3_HUMAN	.	UPI000019B3D8	insertion	MTSS1,stop_gained,p.Ser447_Tyr448insTer,ENST00000524090,;MTSS1,stop_gained,p.Ser275_Tyr276insTer,ENST00000431961,;MTSS1,stop_gained,p.Ser331_Tyr332insTer,ENST00000395508,;MTSS1,stop_gained,p.Ser557_Tyr558insTer,ENST00000518547,;MTSS1,stop_gained,p.Ser532_Tyr533insTer,ENST00000378017,;MTSS1,stop_gained,p.Ser275_Tyr276insTer,ENST00000354184,;MTSS1,stop_gained,p.Ser345_Tyr346insTer,ENST00000519168,;MTSS1,stop_gained,p.Ser561_Tyr562insTer,ENST00000325064,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000523179,;MTSS1,downstream_gene_variant,,ENST00000522118,;NDUFB9,downstream_gene_variant,,ENST00000517367,;NDUFB9,downstream_gene_variant,,ENST00000276689,;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;MTSS1,downstream_gene_variant,,ENST00000520094,;MTSS1,downstream_gene_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;NDUFB9,downstream_gene_variant,,ENST00000518657,;NDUFB9,downstream_gene_variant,,ENST00000524241,;	2147-2148	117	82	SUCCESS
BAG4	9530	.	GRCh37	8	38050228	38050228	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs537121062	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	59	2	ENST00000287322.4:c.293A>T	p.Tyr98Phe	p.Y98F	ENST00000287322	NM_004874.3	98	tAc/tTc	0	.	G:0	.	G:0	.	T	Y/F	protein_coding	YES	CCDS6104.1	293	SOMATICSNIPER|VARSCANS	.	TAGCTACAATT	NONE	byCluster|by1000G	.	hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329	G:0	.	ENSP00000287322	G:0	2/5	.	.	.	.	.	.	.	.	rs537121062	2/5	PASS	ENST00000287322	Transcript	.	G:0.0002	ENSG00000156735	940	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	G:0.001	deleterious(0.04)	.	BAG4_HUMAN	BAG4	HGNC	.	.	UPI0000126769	SNV	BAG4,missense_variant,p.Tyr98Phe,ENST00000287322,;BAG4,intron_variant,,ENST00000432471,;BAG4,non_coding_transcript_exon_variant,,ENST00000521282,;	564	61	29	SUCCESS
RBM12B	389677	.	GRCh37	8	94748274	94748274	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773965515	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	29	106	0	ENST00000399300.2:c.365A>G	p.Tyr122Cys	p.Y122C	ENST00000399300	NM_203390.2	122	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS43755.1	365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCATATCCA	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28	.	.	ENSP00000382239	.	3/3	.	.	.	.	.	.	.	.	rs773965515	3/3	PASS	ENST00000399300	Transcript	.	.	ENSG00000183808	32310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	RB12B_HUMAN	RBM12B	HGNC	E5RJW8_HUMAN,E5RJV8_HUMAN,E5RJ83_HUMAN,E5RHG1_HUMAN	.	UPI0000E9B14C	SNV	RBM12B,missense_variant,p.Tyr122Cys,ENST00000519109,;RBM12B,missense_variant,p.Tyr122Cys,ENST00000399300,;RBM12B,missense_variant,p.Tyr122Cys,ENST00000517700,;RBM12B,missense_variant,p.Tyr122Cys,ENST00000518597,;RBM12B,missense_variant,p.Tyr122Cys,ENST00000520560,;FAM92A1,downstream_gene_variant,,ENST00000518322,;RBM12B-AS1,upstream_gene_variant,,ENST00000391680,;RBM12B,downstream_gene_variant,,ENST00000521947,;RP11-10N23.4,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,;	579	106	91	SUCCESS
ARPC5L	81873	.	GRCh37	9	127631542	127631542	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	18	0	ENST00000259477.6:c.-28C>A		p.*10*	ENST00000259477	NM_030978.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6859.1	.	RADIA|MUTECT|MUSE	.	CGGAGCCGGCT	NONE	.	.	.	.	.	ENSP00000345361	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000353214	Transcript	.	.	ENSG00000136950	23366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARP5L_HUMAN	ARPC5L	HGNC	.	.	UPI00000705BF	SNV	ARPC5L,5_prime_UTR_variant,,ENST00000353214,;ARPC5L,5_prime_UTR_variant,,ENST00000259477,;ARPC5L,upstream_gene_variant,,ENST00000465124,;	1225	18	11	SUCCESS
SLC25A25	114789	.	GRCh37	9	130868160	130868160	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	45	0	ENST00000373064.5:c.798G>A		p.X266_splice	ENST00000373064	NM_052901.4	266	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS35151.1	900	MUTECT|MUSE	.	GAGCAGGTGAG	NONE	.	.	Prints_domain:PR00928,Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF222,PROSITE_profiles:PS50920	.	.	ENSP00000362159	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000373068	Transcript	.	.	ENSG00000148339	20663	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCMC2_HUMAN	SLC25A25	HGNC	.	.	UPI00002118BE	SNV	SLC25A25,synonymous_variant,p.%3D,ENST00000433501,;SLC25A25,synonymous_variant,p.%3D,ENST00000373066,;SLC25A25,synonymous_variant,p.%3D,ENST00000373068,;SLC25A25,synonymous_variant,p.%3D,ENST00000373064,;SLC25A25,synonymous_variant,p.%3D,ENST00000373069,;SLC25A25,synonymous_variant,p.%3D,ENST00000432073,;SLC25A25,intron_variant,,ENST00000466983,;RP11-395P17.11,downstream_gene_variant,,ENST00000602939,;SLC25A25,downstream_gene_variant,,ENST00000445012,;SLC25A25,downstream_gene_variant,,ENST00000472769,;	1019	45	28	SUCCESS
MAGEC3	139081	.	GRCh37	X	140953292	140953292	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	21	54	0	ENST00000298296.1:c.159C>T	p.Ala53=	p.A53=	ENST00000298296	NM_138702.1	53	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14676.1	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCCTTTCA	BUFFER|p.D50N|c.148G>A|3	.	.	.	.	.	ENSP00000298296	.	2/8	.	.	.	.	.	.	.	.	COSM1138097	2/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,synonymous_variant,p.%3D,ENST00000298296,;	159	54	28	SUCCESS
NLGN3	54413	.	GRCh37	X	70389592	70389592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	19	34	0	ENST00000358741.3:c.2192A>G	p.Tyr731Cys	p.Y731C	ENST00000358741	NM_181303.1	731	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS55441.1	2192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACTACCGTA	NONE	.	.	Prints_domain:PR01090	.	.	ENSP00000351591	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358741	Transcript	.	.	ENSG00000196338	14289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NLGN3_HUMAN	NLGN3	HGNC	.	.	UPI000006FCBB	SNV	NLGN3,missense_variant,p.Tyr731Cys,ENST00000358741,;NLGN3,missense_variant,p.Tyr711Cys,ENST00000374051,;NLGN3,missense_variant,p.Tyr691Cys,ENST00000536169,;NLGN3,downstream_gene_variant,,ENST00000395855,;NLGN3,non_coding_transcript_exon_variant,,ENST00000476589,;	2495	34	22	SUCCESS
PNPLA4	8228	.	GRCh37	X	7889813	7889813	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs186093844	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	42	94	0	ENST00000381042.4:c.352G>T	p.Ala118Ser	p.A118S	ENST00000381042	NM_004650.2	118	Gcc/Tcc	0	.	T:0	.	T:0	.	A	A/S	protein_coding	YES	CCDS14129.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCGTTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12406,Gene3D:3.40.1090.10,Pfam_domain:PF01734,Superfamily_domains:SSF52151	T:0	.	ENSP00000370430	T:0.001	4/7	.	.	.	.	.	.	.	.	rs186093844,COSM1125763	4/7	PASS	ENST00000381042	Transcript	.	T:0.0003	ENSG00000006757	24887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	T:0	tolerated(0.27)	0,1	PLPL4_HUMAN	PNPLA4	HGNC	C9IZF6_HUMAN	.	UPI000012BB6D	SNV	PNPLA4,missense_variant,p.Ala31Ser,ENST00000537427,;PNPLA4,missense_variant,p.Ala118Ser,ENST00000381042,;PNPLA4,missense_variant,p.Ala118Ser,ENST00000442940,;PNPLA4,missense_variant,p.Ala118Ser,ENST00000444736,;	523	95	61	SUCCESS
XPNPEP1	7511	.	GRCh37	10	111642256	111642256	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	53	1	ENST00000502935.1:c.975C>T	p.Leu325=	p.L325=	ENST00000502935		325	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7560.2	975	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGAGGTC	NONE	.	.	hmmpanther:PTHR10804:SF87,hmmpanther:PTHR10804,Gene3D:3.40.350.10	.	.	ENSP00000421566	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000502935	Transcript	.	.	ENSG00000108039	12822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPP1_HUMAN	XPNPEP1	HGNC	Q68EA4_HUMAN,Q5T6H7_HUMAN,Q5T6H2_HUMAN,B4E2P4_HUMAN,B4DIS4_HUMAN	.	UPI00003D2EAD	SNV	XPNPEP1,synonymous_variant,p.%3D,ENST00000322238,;XPNPEP1,synonymous_variant,p.%3D,ENST00000502935,;XPNPEP1,synonymous_variant,p.%3D,ENST00000403138,;XPNPEP1,synonymous_variant,p.%3D,ENST00000369683,;XPNPEP1,synonymous_variant,p.%3D,ENST00000369680,;XPNPEP1,downstream_gene_variant,,ENST00000423625,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000509646,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000460055,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000507328,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000460523,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000512582,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000494564,;XPNPEP1,downstream_gene_variant,,ENST00000490740,;XPNPEP1,upstream_gene_variant,,ENST00000510988,;XPNPEP1,downstream_gene_variant,,ENST00000508059,;XPNPEP1,downstream_gene_variant,,ENST00000505255,;XPNPEP1,downstream_gene_variant,,ENST00000506777,;XPNPEP1,downstream_gene_variant,,ENST00000451592,;XPNPEP1,downstream_gene_variant,,ENST00000443078,;XPNPEP1,downstream_gene_variant,,ENST00000430337,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000488118,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000472336,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000513817,;XPNPEP1,upstream_gene_variant,,ENST00000508525,;	1095	54	38	SUCCESS
DOCK1	1793	.	GRCh37	10	129224199	129224199	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773632498	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	59	0	ENST00000280333.6:c.4775C>T	p.Pro1592Leu	p.P1592L	ENST00000280333	NM_001380.3	1592	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	.	4775	RADIA|VARSCANS	.	GAGGCCGTTCC	NONE	byFrequency	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Pfam_domain:PF06920	.	.	ENSP00000280333	.	47/52	.	.	.	.	.	.	.	.	rs773632498,COSM1717592	47/52	PASS	ENST00000280333	Transcript	.	.	ENSG00000150760	2987	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.76)	.	deleterious(0)	0,1	DOCK1_HUMAN	DOCK1	HGNC	.	.	UPI0000246CA1	SNV	DOCK1,missense_variant,p.Pro1592Leu,ENST00000280333,;	4884	59	28	SUCCESS
ZNF438	220929	.	GRCh37	10	31134175	31134175	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	29	143	1	ENST00000361310.3:c.2202G>A	p.Gln734=	p.Q734=	ENST00000361310		734	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS7168.1	2202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTGATG	NONE	.	.	hmmpanther:PTHR24397:SF2,hmmpanther:PTHR24397	.	.	ENSP00000406934	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000436087	Transcript	.	.	ENSG00000183621	21029	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN438_HUMAN	ZNF438	HGNC	Q5T427_HUMAN	.	UPI00001B3D8F	SNV	ZNF438,synonymous_variant,p.%3D,ENST00000452305,;ZNF438,synonymous_variant,p.%3D,ENST00000413025,;ZNF438,synonymous_variant,p.%3D,ENST00000361310,;ZNF438,synonymous_variant,p.%3D,ENST00000538351,;ZNF438,synonymous_variant,p.%3D,ENST00000442986,;ZNF438,synonymous_variant,p.%3D,ENST00000444692,;ZNF438,synonymous_variant,p.%3D,ENST00000436087,;ZNF438,synonymous_variant,p.%3D,ENST00000375311,;ZNF438,synonymous_variant,p.%3D,ENST00000331737,;ZNF438,intron_variant,,ENST00000609683,;	2685	144	102	SUCCESS
PRKCQ	5588	.	GRCh37	10	6521125	6521125	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	108	0	ENST00000263125.5:c.1182C>A		p.X394_splice	ENST00000263125	NM_006257.3	394	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS7079.1	1182	MUTECT|MUSE	.	AGGAAGACCTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352:SF43,hmmpanther:PTHR24352,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000551,SMART_domains:SM00220,PIRSF_domain:PIRSF501105,Superfamily_domains:SSF56112	.	.	ENSP00000263125	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000263125	Transcript	.	.	ENSG00000065675	9410	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPCT_HUMAN	PRKCQ	HGNC	.	.	UPI000012DF74	SNV	PRKCQ,synonymous_variant,p.%3D,ENST00000397176,;PRKCQ,synonymous_variant,p.%3D,ENST00000263125,;PRKCQ,synonymous_variant,p.%3D,ENST00000539722,;	1282	108	92	SUCCESS
TTC18	0	.	GRCh37	10	75013758	75013758	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781065003	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	22	66	0	ENST00000310715.3:c.3341T>C	p.Val1114Ala	p.V1114A	ENST00000310715	NM_145170.3	1114	gTt/gCt	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS7324.3	3341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAACTGTT	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF361	.	.	ENSP00000310829	.	28/28	.	.	.	.	.	.	.	.	rs781065003	28/28	PASS	ENST00000310715	Transcript	.	.	ENSG00000156042	30726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.449)	.	deleterious(0)	.	.	TTC18	HGNC	.	.	UPI00001AEF7A	SNV	TTC18,missense_variant,p.Val583Ala,ENST00000355577,;TTC18,missense_variant,p.Val491Ala,ENST00000433268,;TTC18,missense_variant,p.Val1114Ala,ENST00000310715,;TTC18,missense_variant,p.Val1084Ala,ENST00000394865,;TTC18,missense_variant,p.Val1114Ala,ENST00000401621,;TTC18,missense_variant,p.Val354Ala,ENST00000340329,;MRPS16,upstream_gene_variant,,ENST00000372940,;MRPS16,upstream_gene_variant,,ENST00000416782,;MRPS16,upstream_gene_variant,,ENST00000372945,;RP11-152N13.5,non_coding_transcript_exon_variant,,ENST00000457147,;RP11-152N13.5,non_coding_transcript_exon_variant,,ENST00000394864,;RP11-152N13.5,non_coding_transcript_exon_variant,,ENST00000457758,;DNAJC9-AS1,intron_variant,,ENST00000440197,;DNAJC9-AS1,downstream_gene_variant,,ENST00000513954,;TTC18,non_coding_transcript_exon_variant,,ENST00000462684,;TTC18,non_coding_transcript_exon_variant,,ENST00000493787,;TTC18,non_coding_transcript_exon_variant,,ENST00000495161,;MRPS16,upstream_gene_variant,,ENST00000473427,;MRPS16,upstream_gene_variant,,ENST00000471251,;MRPS16,upstream_gene_variant,,ENST00000479005,;	3462	66	38	SUCCESS
IDE	3416	.	GRCh37	10	94267913	94267913	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	38	156	0	ENST00000265986.6:c.1110T>C	p.Phe370=	p.F370=	ENST00000265986	NM_004969.3	370	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS7421.1	1110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATAAAACC	NONE	.	.	Superfamily_domains:SSF63411,Gene3D:3.30.830.10,Pfam_domain:PF05193,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	.	.	ENSP00000265986	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000265986	Transcript	.	.	ENSG00000119912	5381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDE_HUMAN	IDE	HGNC	.	.	UPI000013D6B6	SNV	IDE,synonymous_variant,p.%3D,ENST00000265986,;IDE,downstream_gene_variant,,ENST00000436178,;IDE,3_prime_UTR_variant,,ENST00000478361,;	1167	156	101	SUCCESS
CEP55	55165	.	GRCh37	10	95276895	95276895	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1196903020	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	144	2	ENST00000371485.3:c.883G>A	p.Glu295Lys	p.E295K	ENST00000371485	NM_018131.4	295	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7428.1	883	RADIA|SOMATICSNIPER|VARSCANS	.	ATCTGGAAGAT	NONE	.	.	hmmpanther:PTHR31838	.	.	ENSP00000360540	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000371485	Transcript	.	.	ENSG00000138180	1161	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	CEP55_HUMAN	CEP55	HGNC	.	.	UPI000013D103	SNV	CEP55,missense_variant,p.Glu135Lys,ENST00000445435,;CEP55,missense_variant,p.Glu295Lys,ENST00000371485,;CEP55,upstream_gene_variant,,ENST00000496302,;	1187	146	105	SUCCESS
SC5D	6309	.	GRCh37	11	121177921	121177921	+	synonymous_variant	Silent	SNP	G	G	A	rs868778899	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	188	0	ENST00000264027.4:c.600G>A	p.Leu200=	p.L200=	ENST00000264027	NM_006918.4	200	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8435.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTGGTTAA	NONE	.	.	hmmpanther:PTHR11863:SF33,hmmpanther:PTHR11863,Pfam_domain:PF04116	.	.	ENSP00000264027	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264027	Transcript	.	.	ENSG00000109929	10547	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC5D_HUMAN	SC5D	HGNC	Q6GTM5_HUMAN	.	UPI000013D4A4	SNV	SC5D,synonymous_variant,p.%3D,ENST00000534230,;SC5D,synonymous_variant,p.%3D,ENST00000264027,;SC5D,synonymous_variant,p.%3D,ENST00000392789,;SC5D,downstream_gene_variant,,ENST00000527762,;SC5D,non_coding_transcript_exon_variant,,ENST00000528991,;SC5D,non_coding_transcript_exon_variant,,ENST00000527183,;SC5D,downstream_gene_variant,,ENST00000524683,;SC5D,downstream_gene_variant,,ENST00000534455,;SC5D,downstream_gene_variant,,ENST00000531140,;	974	188	75	SUCCESS
UBQLN3	50613	.	GRCh37	11	5530137	5530137	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201719446	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	57	1	ENST00000311659.4:c.652C>T	p.Arg218Trp	p.R218W	ENST00000311659	NM_017481.2	218	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7758.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCATAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4,SMART_domains:SM00727	.	.	ENSP00000347997	.	2/2	.	.	.	.	.	.	.	.	rs201719446,COSM76933	2/2	PASS	ENST00000311659	Transcript	.	.	ENSG00000175520	12510	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.984)	.	deleterious(0)	0,1	UBQL3_HUMAN	UBQLN3	HGNC	C9IYQ4_HUMAN	.	UPI000006E3A0	SNV	UBQLN3,missense_variant,p.Arg218Trp,ENST00000445998,;UBQLN3,missense_variant,p.Arg218Trp,ENST00000311659,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000396895,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000380237,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	800	58	47	SUCCESS
PHRF1	57661	.	GRCh37	11	592654	592654	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	36	0	ENST00000264555.5:c.600C>G	p.Leu200=	p.L200=	ENST00000264555	NM_020901.2	200	ctC/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS44507.1	600	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGCTCTGCGA	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000410626	.	6/18	.	.	.	.	.	.	.	.	.	6/18	PASS	ENST00000416188	Transcript	.	.	ENSG00000070047	24351	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHRF1_HUMAN	PHRF1	HGNC	.	.	UPI000189A834	SNV	PHRF1,synonymous_variant,p.%3D,ENST00000416188,;PHRF1,synonymous_variant,p.%3D,ENST00000264555,;PHRF1,synonymous_variant,p.%3D,ENST00000413872,;PHRF1,synonymous_variant,p.%3D,ENST00000533464,;PHRF1,synonymous_variant,p.%3D,ENST00000534320,;	693	36	25	SUCCESS
FADD	8772	.	GRCh37	11	70049785	70049785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	88	25	1	ENST00000301838.4:c.220G>T	p.Asp74Tyr	p.D74Y	ENST00000301838	NM_003824.3	74	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8196.1	220	SOMATICSNIPER|VARSCANS	.	GCCACGACCTG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50168,hmmpanther:PTHR15077,Gene3D:1.10.533.10,Pfam_domain:PF01335,PIRSF_domain:PIRSF018586,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000301838	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000301838	Transcript	.	.	ENSG00000168040	3573	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FADD_HUMAN	FADD	HGNC	Q6LCG1_HUMAN,Q6LCB0_HUMAN	.	UPI000012A4D1	SNV	FADD,missense_variant,p.Asp74Tyr,ENST00000301838,;RP11-805J14.5,downstream_gene_variant,,ENST00000527232,;RP11-805J14.5,downstream_gene_variant,,ENST00000526174,;	517	26	107	SUCCESS
PRKRIR	0	.	GRCh37	11	76063483	76063483	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	176	146	0	ENST00000260045.3:c.711G>A	p.Gln237=	p.Q237=	ENST00000260045	NM_004705.2	237	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS8243.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATCTGCCT	NONE	.	.	hmmpanther:PTHR11697:SF10,hmmpanther:PTHR11697,Pfam_domain:PF14291	.	.	ENSP00000260045	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000260045	Transcript	.	.	ENSG00000137492	9440	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P52K_HUMAN	PRKRIR	HGNC	B4DS64_HUMAN	.	UPI0000131030	SNV	PRKRIR,synonymous_variant,p.%3D,ENST00000260045,;PRKRIR,downstream_gene_variant,,ENST00000531878,;PRKRIR,non_coding_transcript_exon_variant,,ENST00000529901,;PRKRIR,downstream_gene_variant,,ENST00000528993,;PRKRIR,downstream_gene_variant,,ENST00000525277,;	817	146	249	SUCCESS
AQP11	282679	.	GRCh37	11	77301291	77301291	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	40	52	0	ENST00000313578.3:c.254T>C	p.Phe85Ser	p.F85S	ENST00000313578	NM_173039.2	85	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS8251.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTCTCGC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81338,PIRSF_domain:PIRSF017529,Pfam_domain:PF00230,Gene3D:1.20.1080.10,hmmpanther:PTHR21191:SF7,hmmpanther:PTHR21191	.	.	ENSP00000318770	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000313578	Transcript	.	.	ENSG00000178301	19940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.05)	.	AQP11_HUMAN	AQP11	HGNC	.	.	UPI000003B106	SNV	AQP11,missense_variant,p.Phe85Ser,ENST00000313578,;AP002789.1,downstream_gene_variant,,ENST00000607263,;AQP11,intron_variant,,ENST00000528638,;CLNS1A,intron_variant,,ENST00000526761,;	612	53	59	SUCCESS
KRT6B	3854	.	GRCh37	12	52845422	52845422	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	30	161	0	ENST00000252252.3:c.441C>A	p.Pro147=	p.P147=	ENST00000252252	NM_005555.3	147	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8828.1	441	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAGGGGAGT	NONE	.	.	hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000252252	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000252252	Transcript	.	.	ENSG00000185479	6444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C6B_HUMAN	KRT6B	HGNC	.	.	UPI000013CD50	SNV	KRT6B,synonymous_variant,p.%3D,ENST00000252252,;	489	161	98	SUCCESS
KRT6B	3854	.	GRCh37	12	52845423	52845423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	162	0	ENST00000252252.3:c.440C>T	p.Pro147Leu	p.P147L	ENST00000252252	NM_005555.3	147	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8828.1	440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGGAGTC	NONE	.	.	hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000252252	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000252252	Transcript	.	.	ENSG00000185479	6444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K2C6B_HUMAN	KRT6B	HGNC	.	.	UPI000013CD50	SNV	KRT6B,missense_variant,p.Pro147Leu,ENST00000252252,;	488	162	101	SUCCESS
KIF5A	3798	.	GRCh37	12	57957422	57957422	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	35	164	1	ENST00000455537.2:c.237T>C	p.Asn79=	p.N79=	ENST00000455537	NM_004984.2	79	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS8945.1	237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAATGGCAC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000408979	.	3/29	.	.	.	.	.	.	.	.	.	3/29	PASS	ENST00000455537	Transcript	.	.	ENSG00000155980	6323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF5A_HUMAN	KIF5A	HGNC	.	.	UPI000013DE4C	SNV	KIF5A,synonymous_variant,p.%3D,ENST00000455537,;KIF5A,intron_variant,,ENST00000286452,;	511	166	104	SUCCESS
E2F7	144455	.	GRCh37	12	77427753	77427753	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	108	0	ENST00000322886.7:c.1193A>C	p.Gln398Pro	p.Q398P	ENST00000322886	NM_203394.2	398	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS9016.1	1193	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTTGAATC	NONE	.	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25	.	.	ENSP00000323246	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000322886	Transcript	.	.	ENSG00000165891	23820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.18)	.	E2F7_HUMAN	E2F7	HGNC	F8VXV5_HUMAN,F8VSE7_HUMAN	.	UPI00001B64A1	SNV	E2F7,missense_variant,p.Gln398Pro,ENST00000416496,;E2F7,missense_variant,p.Gln398Pro,ENST00000322886,;E2F7,missense_variant,p.Gln398Pro,ENST00000550669,;E2F7,downstream_gene_variant,,ENST00000552907,;	1429	108	63	SUCCESS
SPRY2	10253	.	GRCh37	13	80911669	80911669	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	87	0	ENST00000377102.1:c.172G>T	p.Gly58Trp	p.G58W	ENST00000377102		58	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS9463.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCCTCTG	NONE	.	.	hmmpanther:PTHR12365:SF8,hmmpanther:PTHR12365	.	.	ENSP00000366306	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377102	Transcript	.	.	ENSG00000136158	11270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	SPY2_HUMAN	SPRY2	HGNC	.	.	UPI0000001301	SNV	SPRY2,missense_variant,p.Gly58Trp,ENST00000377102,;SPRY2,missense_variant,p.Gly58Trp,ENST00000377104,;SPRY2,missense_variant,p.Gly58Trp,ENST00000540649,;	1150	87	39	SUCCESS
IFI27L2	83982	.	GRCh37	14	94594892	94594892	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs777656704	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	34	0	ENST00000238609.3:c.158G>C	p.Gly53Ala	p.G53A	ENST00000238609	NM_032036.2	53	gGt/gCt	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS9920.1	158	RADIA|SOMATICSNIPER|MUSE	.	AAACACCACCC	NONE	.	.	hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF2,Pfam_domain:PF06140	.	.	ENSP00000238609	.	3/4	.	.	.	.	.	.	.	.	rs777656704	3/4	PASS	ENST00000238609	Transcript	.	.	ENSG00000119632	19753	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.939)	.	tolerated(0.07)	.	I27L2_HUMAN	IFI27L2	HGNC	.	.	UPI0000049526	SNV	IFI27L2,missense_variant,p.Gly28Ala,ENST00000556727,;IFI27L2,missense_variant,p.Gly53Ala,ENST00000238609,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000554909,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000555558,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000556552,;IFI27L2,intron_variant,,ENST00000553601,;	258	34	17	SUCCESS
SPTBN5	51332	.	GRCh37	15	42149449	42149449	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367976253	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	32	0	ENST00000320955.6:c.8608C>T	p.Arg2870Trp	p.R2870W	ENST00000320955	NM_016642.3	2870	Cgg/Tgg	0	A:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS61599.1	8608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCCGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	A:0.0001	ENSP00000317790	.	51/68	.	.	.	.	.	.	.	.	rs367976253	51/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.785)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Arg2870Trp,ENST00000320955,;	8836	32	18	SUCCESS
LIPC	3990	.	GRCh37	15	58830682	58830682	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	73	0	ENST00000299022.5:c.239C>T	p.Ser80Phe	p.S80F	ENST00000299022	NM_000236.2	80	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS10166.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCCCTGC	NONE	.	.	hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF2,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821	.	.	ENSP00000348425	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000356113	Transcript	1	.	ENSG00000166035	6619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LIPC_HUMAN	LIPC	HGNC	.	.	UPI000013E54D	SNV	LIPC,missense_variant,p.Ser80Phe,ENST00000299022,;LIPC,missense_variant,p.Ser80Phe,ENST00000414170,;LIPC,missense_variant,p.Ser80Phe,ENST00000356113,;LIPC,missense_variant,p.Ser80Phe,ENST00000433326,;LIPC,intron_variant,,ENST00000559845,;LIPC,upstream_gene_variant,,ENST00000560664,;	854	73	38	SUCCESS
TPM1	7168	.	GRCh37	15	63336290	63336290	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1596303148	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	50	1	ENST00000403994.3:c.179A>G	p.Tyr60Cys	p.Y60C	ENST00000403994	NM_001018005.1	60	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32263.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATACTCTG	NONE	.	.	Superfamily_domains:SSF57997,Pfam_domain:PF00261,Gene3D:1.20.5.340,hmmpanther:PTHR19269,hmmpanther:PTHR19269:SF37,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000351022	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000358278	Transcript	1	.	ENSG00000140416	12010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	tolerated(0.06)	.	TPM1_HUMAN	TPM1	HGNC	H0YL42_HUMAN,D9YZV5_HUMAN	.	UPI000002B5A9	SNV	TPM1,missense_variant,p.Tyr41Cys,ENST00000560970,;TPM1,missense_variant,p.Tyr60Cys,ENST00000288398,;TPM1,missense_variant,p.Tyr60Cys,ENST00000358278,;TPM1,missense_variant,p.Tyr60Cys,ENST00000559556,;TPM1,missense_variant,p.Tyr60Cys,ENST00000403994,;TPM1,missense_variant,p.Tyr60Cys,ENST00000560445,;TPM1,missense_variant,p.Tyr102Cys,ENST00000357980,;TPM1,intron_variant,,ENST00000559397,;TPM1,intron_variant,,ENST00000561266,;TPM1,intron_variant,,ENST00000267996,;TPM1,upstream_gene_variant,,ENST00000560959,;TPM1,upstream_gene_variant,,ENST00000317516,;TPM1,upstream_gene_variant,,ENST00000560615,;TPM1,upstream_gene_variant,,ENST00000334895,;TPM1,upstream_gene_variant,,ENST00000404484,;TPM1,upstream_gene_variant,,ENST00000559281,;RP11-244F12.3,downstream_gene_variant,,ENST00000560903,;RP11-244F12.3,downstream_gene_variant,,ENST00000561241,;TPM1,missense_variant,p.Tyr60Cys,ENST00000558347,;TPM1,non_coding_transcript_exon_variant,,ENST00000558314,;TPM1,intron_variant,,ENST00000561425,;TPM1,intron_variant,,ENST00000560975,;TPM1,upstream_gene_variant,,ENST00000559831,;TPM1,upstream_gene_variant,,ENST00000558544,;TPM1,upstream_gene_variant,,ENST00000558868,;	324	51	39	SUCCESS
PDE8A	5151	.	GRCh37	15	85610299	85610299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	58	0	ENST00000310298.4:c.298T>A	p.Cys100Ser	p.C100S	ENST00000310298		100	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS10336.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCATGTGAA	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:3.40.50.2300,Pfam_domain:PF00072	.	.	ENSP00000311453	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.16)	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,missense_variant,p.Cys100Ser,ENST00000394553,;PDE8A,missense_variant,p.Cys100Ser,ENST00000339708,;PDE8A,missense_variant,p.Cys100Ser,ENST00000310298,;PDE8A,missense_variant,p.Cys28Ser,ENST00000557957,;PDE8A,non_coding_transcript_exon_variant,,ENST00000557819,;PDE8A,missense_variant,p.Cys79Ser,ENST00000559086,;PDE8A,missense_variant,p.Cys100Ser,ENST00000485596,;PDE8A,missense_variant,p.Cys100Ser,ENST00000478717,;PDE8A,missense_variant,p.Cys100Ser,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;	550	58	39	SUCCESS
PDE8A	5151	.	GRCh37	15	85610300	85610300	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	57	0	ENST00000310298.4:c.299G>T	p.Cys100Phe	p.C100F	ENST00000310298		100	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS10336.1	299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATGTGAAA	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:3.40.50.2300,Pfam_domain:PF00072	.	.	ENSP00000311453	.	4/23	.	.	.	.	.	.	.	.	COSM3969308	4/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,missense_variant,p.Cys100Phe,ENST00000394553,;PDE8A,missense_variant,p.Cys100Phe,ENST00000339708,;PDE8A,missense_variant,p.Cys100Phe,ENST00000310298,;PDE8A,missense_variant,p.Cys28Phe,ENST00000557957,;PDE8A,non_coding_transcript_exon_variant,,ENST00000557819,;PDE8A,missense_variant,p.Cys79Phe,ENST00000559086,;PDE8A,missense_variant,p.Cys100Phe,ENST00000485596,;PDE8A,missense_variant,p.Cys100Phe,ENST00000478717,;PDE8A,missense_variant,p.Cys100Phe,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;	551	58	39	SUCCESS
NFAT5	10725	.	GRCh37	16	69689669	69689669	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	63	0	ENST00000354436.2:c.1109T>C	p.Val370Ala	p.V370A	ENST00000354436	NM_006599.3	370	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS45518.1	1163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTCGGCC	NONE	.	.	Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF7,PROSITE_profiles:PS50254	.	.	ENSP00000396538	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000432919	Transcript	.	.	ENSG00000102908	7774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	NFAT5_HUMAN	NFAT5	HGNC	.	.	UPI000049DE1B	SNV	NFAT5,missense_variant,p.Val388Ala,ENST00000567239,;NFAT5,missense_variant,p.Val388Ala,ENST00000432919,;NFAT5,missense_variant,p.Val370Ala,ENST00000354436,;NFAT5,missense_variant,p.Val294Ala,ENST00000349945,;NFAT5,missense_variant,p.Val294Ala,ENST00000393742,;NFAT5,missense_variant,p.Val294Ala,ENST00000566899,;NFAT5,intron_variant,,ENST00000565301,;NFAT5,missense_variant,p.Val118Ala,ENST00000563474,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,3_prime_UTR_variant,,ENST00000567990,;	2371	63	22	SUCCESS
PIGS	94005	.	GRCh37	17	26898476	26898476	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs777939711	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	122	0	ENST00000308360.7:c.34+5G>A		p.X12_splice	ENST00000308360	NM_033198.3	12		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11235.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCGCACC	NONE	byFrequency	.	.	.	.	ENSP00000309430	.	.	.	.	.	.	.	.	.	.	rs777939711	.	PASS	ENST00000308360	Transcript	.	.	ENSG00000087111	14937	.	.	LOW	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGS_HUMAN	PIGS	HGNC	Q9BVC1_HUMAN,Q96IR5_HUMAN,F5H019_HUMAN	.	UPI000013D7D9	SNV	PIGS,splice_region_variant,,ENST00000308360,;PIGS,splice_region_variant,,ENST00000543734,;PIGS,5_prime_UTR_variant,,ENST00000395346,;ALDOC,downstream_gene_variant,,ENST00000226253,;ALDOC,downstream_gene_variant,,ENST00000581807,;ALDOC,downstream_gene_variant,,ENST00000578590,;ALDOC,downstream_gene_variant,,ENST00000395319,;ALDOC,downstream_gene_variant,,ENST00000460201,;ALDOC,downstream_gene_variant,,ENST00000584086,;ALDOC,downstream_gene_variant,,ENST00000435638,;ALDOC,downstream_gene_variant,,ENST00000395321,;RP11-192H23.5,upstream_gene_variant,,ENST00000585189,;PIGS,intron_variant,,ENST00000584413,;PIGS,splice_region_variant,,ENST00000584080,;PIGS,splice_region_variant,,ENST00000268758,;PIGS,splice_region_variant,,ENST00000582721,;PIGS,splice_region_variant,,ENST00000577594,;PIGS,non_coding_transcript_exon_variant,,ENST00000583631,;RP11-192H23.4,intron_variant,,ENST00000481916,;ALDOC,downstream_gene_variant,,ENST00000582381,;	.	122	61	SUCCESS
ABCC3	8714	.	GRCh37	17	48745041	48745041	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	37	0	ENST00000285238.8:c.1558G>A	p.Gly520Ser	p.G520S	ENST00000285238	NM_003786.3	520	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS32681.1	1558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGTGAG	NONE	.	.	PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,Pfam_domain:PF00664,TIGRFAM_domain:TIGR00957,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000285238	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000285238	Transcript	.	.	ENSG00000108846	54	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.25)	.	MRP3_HUMAN	ABCC3	HGNC	Q96QA9_HUMAN,Q2M3C9_HUMAN	.	UPI000004B145	SNV	ABCC3,missense_variant,p.Gly520Ser,ENST00000427699,;ABCC3,missense_variant,p.Gly520Ser,ENST00000285238,;ABCC3,downstream_gene_variant,,ENST00000513589,;ABCC3,upstream_gene_variant,,ENST00000503304,;ABCC3,missense_variant,p.Gly520Ser,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000502426,;ABCC3,downstream_gene_variant,,ENST00000571855,;ABCC3,downstream_gene_variant,,ENST00000515585,;ABCC3,downstream_gene_variant,,ENST00000515070,;	1638	37	27	SUCCESS
CD300C	10871	.	GRCh37	17	72540897	72540897	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	89	0	ENST00000330793.1:c.251T>A	p.Ile84Asn	p.I84N	ENST00000330793	NM_006678.4	84	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS11701.1	251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGATGGAC	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF39,PROSITE_profiles:PS50835	.	.	ENSP00000329507	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000330793	Transcript	.	.	ENSG00000167850	19320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLM6_HUMAN	CD300C	HGNC	.	.	UPI0000127BB8	SNV	CD300C,missense_variant,p.Ile84Asn,ENST00000330793,;AC079325.5,downstream_gene_variant,,ENST00000430386,;	612	89	47	SUCCESS
CD68	968	.	GRCh37	17	7483796	7483796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	39	1	ENST00000250092.6:c.580T>C	p.Ser194Pro	p.S194P	ENST00000250092	NM_001251.2	194	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS11114.1	580	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCATCTCTGTA	NONE	.	.	PROSITE_profiles:PS51407,hmmpanther:PTHR11506:SF2,hmmpanther:PTHR11506,Pfam_domain:PF01299	.	.	ENSP00000250092	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000250092	Transcript	.	.	ENSG00000129226	1693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	tolerated(0.08)	.	CD68_HUMAN	CD68	HGNC	B4DNT7_HUMAN	.	UPI000013CCA1	SNV	CD68,missense_variant,p.Ser194Pro,ENST00000250092,;CD68,missense_variant,p.Ser167Pro,ENST00000380498,;CD68,incomplete_terminal_codon_variant,p.%3D,ENST00000584502,;EIF4A1,downstream_gene_variant,,ENST00000584784,;EIF4A1,downstream_gene_variant,,ENST00000583802,;CD68,upstream_gene_variant,,ENST00000584180,;MPDU1,upstream_gene_variant,,ENST00000396501,;EIF4A1,downstream_gene_variant,,ENST00000380512,;MPDU1,upstream_gene_variant,,ENST00000250124,;EIF4A1,downstream_gene_variant,,ENST00000584860,;MPDU1,upstream_gene_variant,,ENST00000579445,;EIF4A1,downstream_gene_variant,,ENST00000578495,;EIF4A1,downstream_gene_variant,,ENST00000582169,;EIF4A1,downstream_gene_variant,,ENST00000578754,;EIF4A1,downstream_gene_variant,,ENST00000293831,;MPDU1,upstream_gene_variant,,ENST00000581380,;MPDU1,upstream_gene_variant,,ENST00000582151,;MPDU1,upstream_gene_variant,,ENST00000584378,;MPDU1,upstream_gene_variant,,ENST00000585217,;EIF4A1,downstream_gene_variant,,ENST00000581384,;EIF4A1,downstream_gene_variant,,ENST00000585024,;MPDU1,upstream_gene_variant,,ENST00000423172,;EIF4A1,downstream_gene_variant,,ENST00000582746,;EIF4A1,downstream_gene_variant,,ENST00000583389,;EIF4A1,downstream_gene_variant,,ENST00000577269,;SNORD10,downstream_gene_variant,,ENST00000459579,;SNORA67,downstream_gene_variant,,ENST00000384423,;AC113189.5,downstream_gene_variant,,ENST00000417897,;AC113189.5,downstream_gene_variant,,ENST00000572046,;AC113189.5,downstream_gene_variant,,ENST00000415124,;AC113189.5,downstream_gene_variant,,ENST00000573187,;SNORA67,non_coding_transcript_exon_variant,,ENST00000581621,;SENP3-EIF4A1,downstream_gene_variant,,ENST00000579777,;EIF4A1,downstream_gene_variant,,ENST00000581808,;EIF4A1,downstream_gene_variant,,ENST00000582213,;MPDU1,upstream_gene_variant,,ENST00000575256,;MPDU1,upstream_gene_variant,,ENST00000580834,;EIF4A1,downstream_gene_variant,,ENST00000577731,;EIF4A1,downstream_gene_variant,,ENST00000580461,;EIF4A1,downstream_gene_variant,,ENST00000578324,;EIF4A1,downstream_gene_variant,,ENST00000581841,;MPDU1,upstream_gene_variant,,ENST00000585188,;EIF4A1,downstream_gene_variant,,ENST00000584901,;EIF4A1,downstream_gene_variant,,ENST00000581544,;MPDU1,upstream_gene_variant,,ENST00000574558,;MPDU1,upstream_gene_variant,,ENST00000572836,;MPDU1,upstream_gene_variant,,ENST00000571391,;EIF4A1,downstream_gene_variant,,ENST00000583899,;MPDU1,upstream_gene_variant,,ENST00000570458,;EIF4A1,downstream_gene_variant,,ENST00000584798,;MPDU1,upstream_gene_variant,,ENST00000571822,;EIF4A1,downstream_gene_variant,,ENST00000580888,;MPDU1,upstream_gene_variant,,ENST00000576066,;MPDU1,upstream_gene_variant,,ENST00000584479,;EIF4A1,downstream_gene_variant,,ENST00000578476,;EIF4A1,downstream_gene_variant,,ENST00000583217,;MPDU1,upstream_gene_variant,,ENST00000577088,;EIF4A1,downstream_gene_variant,,ENST00000582848,;MPDU1,upstream_gene_variant,,ENST00000576272,;EIF4A1,downstream_gene_variant,,ENST00000584712,;MPDU1,upstream_gene_variant,,ENST00000572719,;MPDU1,upstream_gene_variant,,ENST00000580708,;MPDU1,upstream_gene_variant,,ENST00000581886,;EIF4A1,downstream_gene_variant,,ENST00000396527,;EIF4A1,downstream_gene_variant,,ENST00000578569,;MPDU1,upstream_gene_variant,,ENST00000359822,;MPDU1,upstream_gene_variant,,ENST00000578267,;EIF4A1,downstream_gene_variant,,ENST00000582050,;MPDU1,upstream_gene_variant,,ENST00000572936,;	791	40	19	SUCCESS
CCDC137	339230	.	GRCh37	17	79637333	79637334	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	rs754471106	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	50	0	ENST00000329214.8:c.349_350del	p.Arg117GlufsTer5	p.R117Efs*5	ENST00000329214	NM_199287.2	116	cAG/c	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS42400.1	347-348	VARSCANI*|PINDEL	.	TCAAACAGAGGAA	NONE	byFrequency	.	hmmpanther:PTHR21838	.	.	ENSP00000329360	.	3/6	.	.	.	.	.	.	.	.	rs754471106	3/6	PASS	ENST00000329214	Transcript	.	.	ENSG00000185298	33451	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC137_HUMAN	CCDC137	HGNC	H6QX63_HUMAN	.	UPI00001983C7	deletion	CCDC137,frameshift_variant,p.Arg126GlufsTer5,ENST00000574107,;CCDC137,frameshift_variant,p.Arg117GlufsTer5,ENST00000329214,;OXLD1,upstream_gene_variant,,ENST00000374741,;OXLD1,upstream_gene_variant,,ENST00000571503,;OXLD1,upstream_gene_variant,,ENST00000573786,;CCDC137,frameshift_variant,p.Glu57GlyfsTer56,ENST00000571916,;CCDC137,frameshift_variant,p.Arg117GlufsTer5,ENST00000575223,;CCDC137,upstream_gene_variant,,ENST00000572531,;OXLD1,upstream_gene_variant,,ENST00000571092,;OXLD1,upstream_gene_variant,,ENST00000571757,;OXLD1,upstream_gene_variant,,ENST00000575992,;OXLD1,upstream_gene_variant,,ENST00000575963,;CCDC137,downstream_gene_variant,,ENST00000574200,;	750-751	50	31	SUCCESS
ZBTB14	7541	.	GRCh37	18	5291933	5291933	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	28	139	0	ENST00000357006.4:c.274T>A	p.Tyr92Asn	p.Y92N	ENST00000357006	NM_001143823.2	92	Tac/Aac	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS11837.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTAGTTCA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF47,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000349503	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357006	Transcript	.	.	ENSG00000198081	12860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZBT14_HUMAN	ZBTB14	HGNC	J3QLI2_HUMAN,J3QL74_HUMAN,J3KRQ2_HUMAN	.	UPI0000163BCB	SNV	ZBTB14,missense_variant,p.Tyr92Asn,ENST00000357006,;ZBTB14,missense_variant,p.Tyr92Asn,ENST00000582135,;ZBTB14,missense_variant,p.Tyr92Asn,ENST00000582388,;ZBTB14,missense_variant,p.Tyr92Asn,ENST00000400143,;ZBTB14,missense_variant,p.Tyr92Asn,ENST00000578327,;ZBTB14,downstream_gene_variant,,ENST00000585253,;	613	139	49	SUCCESS
JUNB	3726	.	GRCh37	19	12902979	12902979	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	31	0	ENST00000302754.4:c.394C>A	p.Gln132Lys	p.Q132K	ENST00000302754	NM_002229.2	132	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS12280.1	394	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCAGGAG	NONE	.	.	hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF37,Pfam_domain:PF03957	.	.	ENSP00000303315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302754	Transcript	.	.	ENSG00000171223	6205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	JUNB_HUMAN	JUNB	HGNC	Q5U079_HUMAN	.	UPI000012DACF	SNV	JUNB,missense_variant,p.Gln132Lys,ENST00000302754,;PRDX2,downstream_gene_variant,,ENST00000301522,;PRDX2,downstream_gene_variant,,ENST00000334482,;MIR5684,downstream_gene_variant,,ENST00000585074,;CTD-2659N19.10,upstream_gene_variant,,ENST00000585496,;HOOK2,intron_variant,,ENST00000589765,;HOOK2,intron_variant,,ENST00000593143,;PRDX2,downstream_gene_variant,,ENST00000466174,;	670	31	29	SUCCESS
LYL1	4066	.	GRCh37	19	13211948	13211948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	32	0	ENST00000264824.4:c.38C>T	p.Thr13Ile	p.T13I	ENST00000264824	NM_005583.4	13	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS12292.1	38	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGTGGGG	NONE	.	.	hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF13	.	.	ENSP00000264824	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000264824	Transcript	.	.	ENSG00000104903	6734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.299)	.	deleterious_low_confidence(0)	.	LYL1_HUMAN	LYL1	HGNC	K7ER61_HUMAN	.	UPI000013D576	SNV	LYL1,missense_variant,p.Thr13Ile,ENST00000264824,;LYL1,intron_variant,,ENST00000590974,;TRMT1,downstream_gene_variant,,ENST00000437766,;TRMT1,downstream_gene_variant,,ENST00000592062,;NFIX,downstream_gene_variant,,ENST00000358552,;NFIX,downstream_gene_variant,,ENST00000397661,;TRMT1,downstream_gene_variant,,ENST00000357720,;NFIX,downstream_gene_variant,,ENST00000360105,;TRMT1,downstream_gene_variant,,ENST00000221504,;TRMT1,downstream_gene_variant,,ENST00000593157,;TRMT1,downstream_gene_variant,,ENST00000588511,;LYL1,downstream_gene_variant,,ENST00000590120,;	399	32	34	SUCCESS
CILP2	148113	.	GRCh37	19	19651990	19651990	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	19	0	ENST00000291495.5:c.527C>T	p.Pro176Leu	p.P176L	ENST00000291495	NM_153221.2	176	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS12405.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCCCGCTG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000291495	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.1)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Pro176Leu,ENST00000291495,;CILP2,missense_variant,p.Pro182Leu,ENST00000586018,;YJEFN3,downstream_gene_variant,,ENST00000436027,;YJEFN3,downstream_gene_variant,,ENST00000514277,;CILP2,non_coding_transcript_exon_variant,,ENST00000588333,;YJEFN3,downstream_gene_variant,,ENST00000458210,;	612	19	19	SUCCESS
ZNF708	7562	.	GRCh37	19	21477158	21477158	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	36	1	ENST00000356929.3:c.610G>A	p.Ala204Thr	p.A204T	ENST00000356929	NM_021269.2	204	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32980.1	610	MUTECT|MUSE|VARSCANS	.	AAAAGCTTTGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.461)	.	tolerated(0.1)	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,missense_variant,p.Ala204Thr,ENST00000356929,;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;	808	37	29	SUCCESS
PRX	57716	.	GRCh37	19	40900384	40900384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	25	0	ENST00000324001.7:c.3875A>T	p.Gln1292Leu	p.Q1292L	ENST00000324001	NM_181882.2	1292	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33028.1	3875	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCACCTGGTAC	NONE	.	.	hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	.	.	ENSP00000326018	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000324001	Transcript	1	.	ENSG00000105227	13797	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.145)	.	deleterious(0)	.	PRAX_HUMAN	PRX	HGNC	.	.	UPI000044CC1A	SNV	PRX,missense_variant,p.Gln1292Leu,ENST00000324001,;PRX,3_prime_UTR_variant,,ENST00000291825,;HIPK4,upstream_gene_variant,,ENST00000291823,;	4146	25	13	SUCCESS
SHKBP1	92799	.	GRCh37	19	41096160	41096160	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759897287	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	38	0	ENST00000291842.5:c.1600G>T	p.Val534Leu	p.V534L	ENST00000291842	NM_138392.3	534	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS12560.1	1600	RADIA|MUTECT|MUSE	.	GCTCCGTGCGC	NONE	byFrequency	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF3	.	.	ENSP00000291842	.	16/18	.	.	.	.	.	.	.	.	rs759897287	16/18	PASS	ENST00000291842	Transcript	.	.	ENSG00000160410	19214	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.044)	.	tolerated(0.1)	.	SHKB1_HUMAN	SHKBP1	HGNC	B3KVX8_HUMAN	.	UPI0000036171	SNV	SHKBP1,missense_variant,p.Val509Leu,ENST00000600733,;SHKBP1,missense_variant,p.Val135Leu,ENST00000602011,;SHKBP1,missense_variant,p.Val534Leu,ENST00000291842,;SHKBP1,missense_variant,p.Val105Leu,ENST00000597396,;SHKBP1,intron_variant,,ENST00000600718,;SHKBP1,intron_variant,,ENST00000593764,;SHKBP1,intron_variant,,ENST00000600320,;SHKBP1,intron_variant,,ENST00000594862,;SHKBP1,intron_variant,,ENST00000594298,;SHKBP1,intron_variant,,ENST00000595726,;LTBP4,upstream_gene_variant,,ENST00000545697,;LTBP4,upstream_gene_variant,,ENST00000204005,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000597649,;LTBP4,upstream_gene_variant,,ENST00000602240,;LTBP4,upstream_gene_variant,,ENST00000600026,;LTBP4,upstream_gene_variant,,ENST00000599016,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000599833,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000602239,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,intron_variant,,ENST00000596163,;SHKBP1,downstream_gene_variant,,ENST00000600791,;	1649	38	25	SUCCESS
CYP2A13	1553	.	GRCh37	19	41594950	41594950	+	synonymous_variant	Silent	SNP	C	C	T	rs777323292	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	78	0	ENST00000330436.3:c.297C>T	p.Ser99=	p.S99=	ENST00000330436	NM_000766.4	99	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12571.1	297	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCGGGCG	NONE	.	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	.	.	ENSP00000332679	.	2/9	.	.	.	.	.	.	.	.	rs777323292	2/9	PASS	ENST00000330436	Transcript	.	.	ENSG00000197838	2608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2AD_HUMAN	CYP2A13	HGNC	.	.	UPI000013E07A	SNV	CYP2A13,synonymous_variant,p.%3D,ENST00000330436,;	297	78	40	SUCCESS
ZNF284	342909	.	GRCh37	19	44589934	44589934	+	synonymous_variant	Silent	SNP	G	G	A	rs566010633	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	80	0	ENST00000421176.3:c.303G>A	p.Gln101=	p.Q101=	ENST00000421176	NM_001037813.2	101	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS46099.1	303	MUTECT|MUSE|VARSCANS	.	TGCCAGCAAAT	NONE	.	.	hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2	.	.	ENSP00000411032	.	5/5	.	.	.	.	.	.	.	.	rs566010633	5/5	PASS	ENST00000421176	Transcript	.	.	ENSG00000186026	13078	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN284_HUMAN	ZNF284	HGNC	.	.	UPI00005788EA	SNV	ZNF284,synonymous_variant,p.%3D,ENST00000421176,;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;	519	80	47	SUCCESS
CA11	770	.	GRCh37	19	49143430	49143430	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	44	1	ENST00000084798.4:c.393T>A	p.Ser131Arg	p.S131R	ENST00000084798	NM_001217.3	131	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS12729.1	393	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTTCACTGAG	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF93,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000084798	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000084798	Transcript	.	.	ENSG00000063180	1370	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.042)	.	tolerated(0.1)	.	CAH11_HUMAN	CA11	HGNC	.	.	UPI000004C652	SNV	CA11,missense_variant,p.Ser131Arg,ENST00000084798,;CA11,upstream_gene_variant,,ENST00000596080,;DBP,upstream_gene_variant,,ENST00000601104,;DBP,upstream_gene_variant,,ENST00000222122,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;CA11,upstream_gene_variant,,ENST00000594088,;DBP,upstream_gene_variant,,ENST00000594723,;CA11,upstream_gene_variant,,ENST00000599267,;SEC1P,intron_variant,,ENST00000521217,;	1073	45	36	SUCCESS
USF1	7391	.	GRCh37	1	161011514	161011514	+	synonymous_variant	Silent	SNP	C	C	A	rs781322237	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	26	49	0	ENST00000368020.1:c.399G>T	p.Ser133=	p.S133=	ENST00000368020	NM_001276373.1	133	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS1214.1	399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCGATGT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF45	.	.	ENSP00000357000	.	6/11	.	.	.	.	.	.	.	.	rs781322237	6/11	PASS	ENST00000368021	Transcript	.	.	ENSG00000158773	12593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USF1_HUMAN	USF1	HGNC	E9PQA2_HUMAN,E9PJ52_HUMAN	.	UPI0000001C35	SNV	USF1,synonymous_variant,p.%3D,ENST00000435396,;USF1,synonymous_variant,p.%3D,ENST00000534633,;USF1,synonymous_variant,p.%3D,ENST00000368021,;USF1,synonymous_variant,p.%3D,ENST00000368020,;USF1,intron_variant,,ENST00000531842,;USF1,intron_variant,,ENST00000368019,;TSTD1,upstream_gene_variant,,ENST00000368023,;TSTD1,upstream_gene_variant,,ENST00000318289,;TSTD1,upstream_gene_variant,,ENST00000423014,;TSTD1,upstream_gene_variant,,ENST00000368024,;USF1,upstream_gene_variant,,ENST00000528768,;TSTD1,upstream_gene_variant,,ENST00000466967,;USF1,3_prime_UTR_variant,,ENST00000473969,;USF1,non_coding_transcript_exon_variant,,ENST00000496363,;USF1,non_coding_transcript_exon_variant,,ENST00000491629,;USF1,non_coding_transcript_exon_variant,,ENST00000529476,;TSTD1,upstream_gene_variant,,ENST00000462952,;TSTD1,upstream_gene_variant,,ENST00000486084,;RP11-544M22.13,upstream_gene_variant,,ENST00000289779,;USF1,upstream_gene_variant,,ENST00000472217,;RP11-544M22.13,upstream_gene_variant,,ENST00000470694,;	604	49	45	SUCCESS
PCP4L1	654790	.	GRCh37	1	161254248	161254248	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	50	201	1	ENST00000504449.1:c.184A>C	p.Arg62=	p.R62=	ENST00000504449	NM_001102566.1	62	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS53412.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAGGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15359,hmmpanther:PTHR15359:SF5	.	.	ENSP00000426296	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000504449	Transcript	.	.	ENSG00000248485	20448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC4L1_HUMAN	PCP4L1	HGNC	.	.	UPI000006E52C	SNV	PCP4L1,synonymous_variant,p.%3D,ENST00000504449,;	432	202	153	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220406191	220406191	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	70	204	0	ENST00000358951.2:c.130T>G	p.Trp44Gly	p.W44G	ENST00000358951	NM_012414.3	44	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS31028.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCAGTCTG	NONE	.	.	hmmpanther:PTHR12472	.	.	ENSP00000351832	.	2/35	.	.	.	.	.	.	.	.	.	2/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.03)	.	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,missense_variant,p.Trp44Gly,ENST00000358951,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000475769,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,missense_variant,p.Trp44Gly,ENST00000474178,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000237724,;	247	204	160	SUCCESS
KIAA1522	57648	.	GRCh37	1	33235673	33235673	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781023475	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	32	0	ENST00000373480.1:c.716G>T	p.Arg239Leu	p.R239L	ENST00000373480	NM_001198972.1	239	cGt/cTt	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS41298.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCGTGTCT	NONE	byFrequency	.	hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF6	.	.	ENSP00000383851	.	6/7	.	.	.	.	.	.	.	.	rs781023475	6/7	PASS	ENST00000401073	Transcript	.	.	ENSG00000162522	29301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.08)	.	K1522_HUMAN	KIAA1522	HGNC	.	.	UPI000022ACD0	SNV	KIAA1522,missense_variant,p.Arg239Leu,ENST00000373480,;KIAA1522,missense_variant,p.Arg250Leu,ENST00000373481,;KIAA1522,missense_variant,p.Arg298Leu,ENST00000401073,;KIAA1522,intron_variant,,ENST00000294521,;KIAA1522,downstream_gene_variant,,ENST00000468130,;	963	32	33	SUCCESS
MACF1	23499	.	GRCh37	1	39748038	39748038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	60	0	ENST00000372915.3:c.702C>A	p.His234Gln	p.H234Q	ENST00000372915		234	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS435.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCACCGATA	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Gene3D:1.10.418.10,Pfam_domain:PF00307,hmmpanther:PTHR11915:SF37,hmmpanther:PTHR11915,PROSITE_profiles:PS50021	.	.	ENSP00000439537	.	7/94	.	.	.	.	.	.	.	.	.	7/94	PASS	ENST00000545844	Transcript	.	.	ENSG00000127603	13664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	.	.	MACF1_HUMAN	MACF1	HGNC	Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN	.	UPI00001B3DC6	SNV	MACF1,missense_variant,p.His234Gln,ENST00000361689,;MACF1,missense_variant,p.His229Gln,ENST00000564288,;MACF1,missense_variant,p.His383Gln,ENST00000530262,;MACF1,missense_variant,p.His234Gln,ENST00000539005,;MACF1,missense_variant,p.His234Gln,ENST00000372915,;MACF1,missense_variant,p.His234Gln,ENST00000317713,;MACF1,missense_variant,p.His266Gln,ENST00000567887,;MACF1,missense_variant,p.His234Gln,ENST00000545844,;MACF1,missense_variant,p.His197Gln,ENST00000536367,;MACF1,missense_variant,p.His192Gln,ENST00000524432,;MACF1,missense_variant,p.His394Gln,ENST00000496804,;MACF1,upstream_gene_variant,,ENST00000485063,;MACF1,upstream_gene_variant,,ENST00000484393,;MACF1,upstream_gene_variant,,ENST00000472385,;	810	60	48	SUCCESS
DIO1	1733	.	GRCh37	1	54359901	54359901	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	93	1	ENST00000361921.3:c.18A>G	p.Pro6=	p.P6=	ENST00000361921	NM_213593.3	6	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41339.1	18	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGCCAGGGCT	NONE	.	.	PIRSF_domain:PIRSF001330,PIRSF_domain:PIRSF500144,hmmpanther:PTHR11781:SF7,hmmpanther:PTHR11781	.	.	ENSP00000354643	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000361921	Transcript	.	.	ENSG00000211452	2883	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IOD1_HUMAN	DIO1	HGNC	D3DQ42_HUMAN,A8K415_HUMAN	.	UPI0000161B1A	SNV	DIO1,synonymous_variant,p.%3D,ENST00000322679,;DIO1,synonymous_variant,p.%3D,ENST00000532493,;DIO1,synonymous_variant,p.%3D,ENST00000361921,;DIO1,synonymous_variant,p.%3D,ENST00000525202,;DIO1,synonymous_variant,p.%3D,ENST00000388876,;DIO1,5_prime_UTR_variant,,ENST00000524406,;DIO1,intron_variant,,ENST00000529589,;YIPF1,upstream_gene_variant,,ENST00000072644,;YIPF1,upstream_gene_variant,,ENST00000371399,;YIPF1,upstream_gene_variant,,ENST00000539954,;YIPF1,upstream_gene_variant,,ENST00000412288,;DIO1,intron_variant,,ENST00000534069,;YIPF1,upstream_gene_variant,,ENST00000472983,;YIPF1,upstream_gene_variant,,ENST00000469457,;YIPF1,upstream_gene_variant,,ENST00000465897,;YIPF1,upstream_gene_variant,,ENST00000480151,;DIO1,synonymous_variant,p.%3D,ENST00000530084,;DIO1,synonymous_variant,p.%3D,ENST00000529329,;DIO1,synonymous_variant,p.%3D,ENST00000527060,;DIO1,synonymous_variant,p.%3D,ENST00000525044,;DIO1,synonymous_variant,p.%3D,ENST00000528946,;DIO1,non_coding_transcript_exon_variant,,ENST00000526329,;YIPF1,upstream_gene_variant,,ENST00000464950,;	42	95	63	SUCCESS
ROR1	4919	.	GRCh37	1	64643503	64643503	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	54	0	ENST00000371079.1:c.1779G>T	p.Leu593=	p.L593=	ENST00000371079	NM_005012.3	593	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS626.1	1779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGCACAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000624,Superfamily_domains:SSF56112	.	.	ENSP00000360120	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371079	Transcript	.	.	ENSG00000185483	10256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR1_HUMAN	ROR1	HGNC	.	.	UPI00001AF82C	SNV	ROR1,synonymous_variant,p.%3D,ENST00000545203,;ROR1,synonymous_variant,p.%3D,ENST00000371079,;	2154	54	45	SUCCESS
PTPRT	11122	.	GRCh37	20	40979316	40979316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	43	0	ENST00000373198.4:c.1817C>A	p.Thr606Asn	p.T606N	ENST00000373198	NM_133170.3	606	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS42874.1	1817	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGTCGTG	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	.	.	ENSP00000362283	.	11/31	.	.	.	.	.	.	.	.	.	11/31	PASS	ENST00000373187	Transcript	.	.	ENSG00000196090	9682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.326)	.	deleterious(0)	.	PTPRT_HUMAN	PTPRT	HGNC	.	.	UPI0000246C03	SNV	PTPRT,missense_variant,p.Thr606Asn,ENST00000373201,;PTPRT,missense_variant,p.Thr606Asn,ENST00000356100,;PTPRT,missense_variant,p.Thr606Asn,ENST00000373198,;PTPRT,missense_variant,p.Thr606Asn,ENST00000373193,;PTPRT,missense_variant,p.Thr606Asn,ENST00000373184,;PTPRT,missense_variant,p.Thr606Asn,ENST00000373190,;PTPRT,missense_variant,p.Thr606Asn,ENST00000373187,;	1817	43	35	SUCCESS
CABIN1	23523	.	GRCh37	22	24573522	24573522	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374568653	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	25	0	ENST00000263119.5:c.6256G>A	p.Ala2086Thr	p.A2086T	ENST00000263119	NM_012295.3	2086	Gcg/Acg	0	T:0.0005	.	.	.	.	A	A/T	protein_coding	YES	CCDS13823.1	6256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGCGAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	T:0	ENSP00000381364	.	36/37	.	.	.	.	.	.	.	.	rs374568653	36/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.48)	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.Ala456Thr,ENST00000337989,;CABIN1,missense_variant,p.Ala2086Thr,ENST00000398319,;CABIN1,missense_variant,p.Ala2007Thr,ENST00000405822,;CABIN1,missense_variant,p.Ala2086Thr,ENST00000263119,;SUSD2,upstream_gene_variant,,ENST00000358321,;CABIN1,downstream_gene_variant,,ENST00000485008,;CABIN1,downstream_gene_variant,,ENST00000459824,;	6641	25	19	SUCCESS
SOX10	6663	.	GRCh37	22	38379513	38379513	+	synonymous_variant	Silent	SNP	G	G	T	rs780602725	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	62	1	ENST00000360880.2:c.279C>A	p.Arg93=	p.R93=	ENST00000360880		93	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS13964.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGACGCGCAC	NONE	byFrequency	.	hmmpanther:PTHR10270:SF106,hmmpanther:PTHR10270,Pfam_domain:PF12444,Superfamily_domains:SSF47095	.	.	ENSP00000380093	.	2/4	.	.	.	.	.	.	.	.	rs780602725	2/4	PASS	ENST00000396884	Transcript	.	.	ENSG00000100146	11190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX10_HUMAN	SOX10	HGNC	A6PVD3_HUMAN	.	UPI00001362AA	SNV	SOX10,synonymous_variant,p.%3D,ENST00000427770,;SOX10,synonymous_variant,p.%3D,ENST00000360880,;SOX10,synonymous_variant,p.%3D,ENST00000396884,;POLR2F,intron_variant,,ENST00000407936,;POLR2F,intron_variant,,ENST00000405557,;POLR2F,upstream_gene_variant,,ENST00000333418,;SOX10,upstream_gene_variant,,ENST00000446929,;POLR2F,upstream_gene_variant,,ENST00000427034,;SOX10,intron_variant,,ENST00000470555,;POLR2F,intron_variant,,ENST00000443002,;	562	63	23	SUCCESS
CACNA1I	8911	.	GRCh37	22	40060133	40060133	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753353609	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	49	0	ENST00000402142.3:c.3635C>A	p.Thr1212Lys	p.T1212K	ENST00000402142	NM_021096.3	1212	aCg/aAg	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS46710.1	3635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	.	.	ENSP00000385019	.	20/37	.	.	.	.	.	.	.	.	rs753353609	20/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	deleterious(0)	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,missense_variant,p.Thr1212Lys,ENST00000401624,;CACNA1I,missense_variant,p.Thr1177Lys,ENST00000407673,;CACNA1I,missense_variant,p.Thr1212Lys,ENST00000402142,;CACNA1I,missense_variant,p.Thr1177Lys,ENST00000400164,;CACNA1I,missense_variant,p.Thr1218Lys,ENST00000336649,;CACNA1I,missense_variant,p.Thr1177Lys,ENST00000404898,;	3635	49	43	SUCCESS
TTC38	55020	.	GRCh37	22	46677505	46677505	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs370933560	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	60	0	ENST00000381031.3:c.625A>G	p.Ile209Val	p.I209V	ENST00000381031	NM_017931.2	209	Att/Gtt	0	G:0	.	.	.	.	G	I/V	protein_coding	YES	CCDS43030.1	625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTATTAAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR16263:SF4,hmmpanther:PTHR16263,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	G:0.0001	ENSP00000370419	.	7/14	.	.	.	.	.	.	.	.	rs370933560	7/14	PASS	ENST00000381031	Transcript	.	.	ENSG00000075234	26082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.26)	.	TTC38_HUMAN	TTC38	HGNC	.	.	UPI0000470C96	SNV	TTC38,missense_variant,p.Ile151Val,ENST00000445282,;TTC38,missense_variant,p.Ile209Val,ENST00000381031,;TTC38,downstream_gene_variant,,ENST00000421359,;TTC38,missense_variant,p.Ile160Val,ENST00000422713,;	701	60	39	SUCCESS
TMEM182	130827	.	GRCh37	2	103431388	103431388	+	synonymous_variant	Silent	SNP	A	A	G	rs762045856	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	104	1	ENST00000412401.2:c.651A>G	p.Leu217=	p.L217=	ENST00000412401	NM_144632.3	217	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS2064.1	651	RADIA|VARSCANS	.	TTACTATTTCT	NONE	.	.	Pfam_domain:PF13903,hmmpanther:PTHR32012,Transmembrane_helices:TMhelix	.	.	ENSP00000394178	.	5/5	.	.	.	.	.	.	.	.	rs762045856	5/5	PASS	ENST00000412401	Transcript	.	.	ENSG00000170417	26391	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM182_HUMAN	TMEM182	HGNC	.	.	UPI0000366F4E	SNV	TMEM182,synonymous_variant,p.%3D,ENST00000412401,;TMEM182,synonymous_variant,p.%3D,ENST00000409528,;TMEM182,synonymous_variant,p.%3D,ENST00000409173,;TMEM182,non_coding_transcript_exon_variant,,ENST00000488134,;TMEM182,intron_variant,,ENST00000486293,;TMEM182,non_coding_transcript_exon_variant,,ENST00000484094,;	856	105	80	SUCCESS
SNTG2	54221	.	GRCh37	2	1204797	1204797	+	synonymous_variant	Silent	SNP	G	G	T	rs141600263	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	50	0	ENST00000308624.5:c.600G>T	p.Ser200=	p.S200=	ENST00000308624	NM_018968.3	200	tcG/tcT	0	.	A:0	.	A:0	.	T	S	protein_coding	YES	CCDS46220.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCGTCACC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	A:0.001	.	ENSP00000311837	A:0	9/17	.	.	.	.	.	.	.	.	rs141600263,COSM1744428	9/17	PASS	ENST00000308624	Transcript	.	A:0.0002	ENSG00000172554	13741	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,synonymous_variant,p.%3D,ENST00000308624,;SNTG2,synonymous_variant,p.%3D,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000467759,;SNTG2,non_coding_transcript_exon_variant,,ENST00000463442,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;SNTG2,intron_variant,,ENST00000475201,;SNTG2,upstream_gene_variant,,ENST00000498321,;	729	50	22	SUCCESS
ABCB11	8647	.	GRCh37	2	169828460	169828460	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs886044202	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	26	99	1	ENST00000263817.6:c.1535T>C	p.Ile512Thr	p.I512T	ENST00000263817	NM_003742.2	512	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS46444.1	1535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAATGGTG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF165,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000263817	.	14/28	.	.	.	.	.	.	.	.	CM081489	14/28	PASS	ENST00000263817	Transcript	.	.	ENSG00000073734	42	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	.	ABCBB_HUMAN	ABCB11	HGNC	Q9UIL3_HUMAN,Q53S60_HUMAN,B4DYQ0_HUMAN	.	UPI0000163BFA	SNV	ABCB11,missense_variant,p.Ile512Thr,ENST00000263817,;ABCB11,missense_variant,p.Ile28Thr,ENST00000439188,;ABCB11,upstream_gene_variant,,ENST00000478354,;	1660	100	72	SUCCESS
CHRNA1	1134	.	GRCh37	2	175624301	175624301	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	35	0	ENST00000261007.5:c.104A>C	p.Tyr35Ser	p.Y35S	ENST00000261007	NM_001039523.2	35	tAc/tCc	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS33331.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTAGTCT	NONE	.	.	hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000261007	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000261007	Transcript	.	.	ENSG00000138435	1955	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ACHA_HUMAN	CHRNA1	HGNC	A9X444_HUMAN	.	UPI000012524E	SNV	CHRNA1,missense_variant,p.Tyr35Ser,ENST00000409542,;CHRNA1,missense_variant,p.Tyr35Ser,ENST00000409219,;CHRNA1,missense_variant,p.Tyr35Ser,ENST00000348749,;CHRNA1,missense_variant,p.Tyr35Ser,ENST00000409323,;CHRNA1,missense_variant,p.Tyr35Ser,ENST00000261007,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,missense_variant,p.Tyr35Ser,ENST00000435083,;	171	35	30	SUCCESS
NBEAL1	65065	.	GRCh37	2	204009591	204009591	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756694138	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	101	0	ENST00000449802.1:c.5030G>T	p.Cys1677Phe	p.C1677F	ENST00000449802	NM_001114132.1	1677	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS46495.1	5030	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTGTAATT	NONE	.	.	hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743	.	.	ENSP00000399903	.	31/55	.	.	.	.	.	.	.	.	rs756694138	31/55	PASS	ENST00000449802	Transcript	.	.	ENSG00000144426	20681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	NBEL1_HUMAN	NBEAL1	HGNC	.	.	UPI000194EC27	SNV	NBEAL1,missense_variant,p.Cys1677Phe,ENST00000449802,;	5363	101	80	SUCCESS
TTLL4	9654	.	GRCh37	2	219614829	219614829	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749737475	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	58	0	ENST00000258398.4:c.2833A>G	p.Ile945Val	p.I945V	ENST00000258398		945	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2422.1	2833	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATATCATT	NONE	byFrequency	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF9,PROSITE_profiles:PS51221	.	.	ENSP00000375951	.	15/20	.	.	.	.	.	.	.	.	rs749737475	15/20	PASS	ENST00000392102	Transcript	.	.	ENSG00000135912	28976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TTLL4_HUMAN	TTLL4	HGNC	C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN	.	UPI000013EDFF	SNV	TTLL4,missense_variant,p.Ile945Val,ENST00000258398,;TTLL4,missense_variant,p.Ile90Val,ENST00000436668,;TTLL4,missense_variant,p.Ile945Val,ENST00000392102,;TTLL4,missense_variant,p.Ile780Val,ENST00000457313,;TTLL4,missense_variant,p.Ile881Val,ENST00000442769,;TTLL4,upstream_gene_variant,,ENST00000417855,;TTLL4,downstream_gene_variant,,ENST00000448224,;TTLL4,non_coding_transcript_exon_variant,,ENST00000465558,;TTLL4,upstream_gene_variant,,ENST00000472527,;TTLL4,downstream_gene_variant,,ENST00000491899,;TTLL4,downstream_gene_variant,,ENST00000475950,;TTLL4,downstream_gene_variant,,ENST00000494428,;TTLL4,downstream_gene_variant,,ENST00000434241,;TTLL4,downstream_gene_variant,,ENST00000480929,;TTLL4,downstream_gene_variant,,ENST00000417196,;TTLL4,downstream_gene_variant,,ENST00000467841,;TTLL4,downstream_gene_variant,,ENST00000480472,;TTLL4,downstream_gene_variant,,ENST00000461181,;	3173	58	39	SUCCESS
NYAP2	57624	.	GRCh37	2	226378129	226378129	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	24	98	0	ENST00000272907.6:c.266del	p.Gly89AlafsTer9	p.G89Afs*9	ENST00000272907	NM_020864.1	88	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS46529.1	264	INDELOCATOR*|VARSCANI*|PINDEL	.	TTACGTGGGCAA	NONE	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633	.	.	ENSP00000272907	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	deletion	NYAP2,frameshift_variant,p.Gly89AlafsTer9,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	677	98	75	SUCCESS
KIF1A	547	.	GRCh37	2	241664710	241664710	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs926294483	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	27	0	ENST00000320389.7:c.3931G>A	p.Gly1311Arg	p.G1311R	ENST00000320389	NM_004321.6	1311	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS58757.1	4234	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GCTCCCACTGC	NONE	.	.	hmmpanther:PTHR24115:SF361,hmmpanther:PTHR24115	.	.	ENSP00000438388	.	40/50	.	.	.	.	.	.	.	.	.	40/50	PASS	ENST00000498729	Transcript	.	.	ENSG00000130294	888	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.03)	.	KIF1A_HUMAN	KIF1A	HGNC	G1UI30_HUMAN,C9JBH1_HUMAN	.	UPI0002065B81	SNV	KIF1A,missense_variant,p.Gly1412Arg,ENST00000498729,;KIF1A,missense_variant,p.Gly1311Arg,ENST00000320389,;KIF1A,missense_variant,p.Gly244Arg,ENST00000431776,;KIF1A,missense_variant,p.Gly1420Arg,ENST00000404283,;KIF1A,non_coding_transcript_exon_variant,,ENST00000492812,;KIF1A,upstream_gene_variant,,ENST00000460788,;KIF1A,upstream_gene_variant,,ENST00000465813,;KIF1A,downstream_gene_variant,,ENST00000494452,;	4481	27	13	SUCCESS
TEX261	113419	.	GRCh37	2	71221800	71221800	+	intron_variant	Intron	SNP	G	G	A	rs782253423	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	57	1	ENST00000272438.4:c.70+18C>T		p.*24*	ENST00000272438	NM_144582.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1914.1	.	RADIA|MUSE	.	GGGCCGGGGTC	NONE	byFrequency	.	.	.	.	ENSP00000272438	.	.	.	.	.	.	.	.	.	.	rs782253423	.	PASS	ENST00000272438	Transcript	.	.	ENSG00000144043	30712	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TX261_HUMAN	TEX261	HGNC	B3KQF1_HUMAN,B2RDH4_HUMAN	.	UPI000004C62F	SNV	TEX261,intron_variant,,ENST00000272438,;AC007040.11,intron_variant,,ENST00000606025,;AC007040.6,non_coding_transcript_exon_variant,,ENST00000416229,;AC007040.6,non_coding_transcript_exon_variant,,ENST00000601923,;TEX261,non_coding_transcript_exon_variant,,ENST00000466731,;AC007040.11,intron_variant,,ENST00000453130,;TEX261,intron_variant,,ENST00000489894,;TEX261,intron_variant,,ENST00000433258,;TEX261,intron_variant,,ENST00000473055,;TEX261,upstream_gene_variant,,ENST00000478068,;	.	58	38	SUCCESS
TMEM45A	55076	.	GRCh37	3	100275609	100275609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	125	1	ENST00000323523.4:c.196G>T	p.Ala66Ser	p.A66S	ENST00000323523	NM_018004.1	66	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS2937.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGCTGGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16007:SF10,hmmpanther:PTHR16007	.	.	ENSP00000319009	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000323523	Transcript	.	.	ENSG00000181458	25480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.08)	.	TM45A_HUMAN	TMEM45A	HGNC	.	.	UPI0000039E49	SNV	TMEM45A,missense_variant,p.Ala82Ser,ENST00000449609,;TMEM45A,missense_variant,p.Ala82Ser,ENST00000403410,;TMEM45A,missense_variant,p.Ala66Ser,ENST00000323523,;TMEM45A,non_coding_transcript_exon_variant,,ENST00000462884,;	509	126	85	SUCCESS
MAATS1	0	.	GRCh37	3	119466699	119466699	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	85	0	ENST00000273390.5:c.2093T>C	p.Val698Ala	p.V698A	ENST00000273390	NM_033364.3	698	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS2994.1	2093	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTTTATA	NONE	.	.	hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455	.	.	ENSP00000273390	.	16/18	.	.	.	.	.	.	.	.	COSM3927342	16/18	PASS	ENST00000273390	Transcript	.	.	ENSG00000183833	24010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.952)	.	deleterious(0)	1	MAAT1_HUMAN	MAATS1	HGNC	.	.	UPI00001C1DFE	SNV	MAATS1,missense_variant,p.Val698Ala,ENST00000273390,;RP11-169N13.4,intron_variant,,ENST00000489428,;MAATS1,non_coding_transcript_exon_variant,,ENST00000470948,;MAATS1,upstream_gene_variant,,ENST00000475543,;MAATS1,upstream_gene_variant,,ENST00000496010,;MAATS1,upstream_gene_variant,,ENST00000482995,;MAATS1,upstream_gene_variant,,ENST00000472117,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,3_prime_UTR_variant,,ENST00000482573,;MAATS1,3_prime_UTR_variant,,ENST00000475093,;	2170	85	57	SUCCESS
ALG1L2	644974	.	GRCh37	3	129811015	129811015	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	126	0	ENST00000425059.1:n.389C>T		p.*130*	ENST00000425059				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGACGCGTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	common_in_exac	ENST00000514010	Transcript	.	.	ENSG00000248243	.	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-93K22.13	Clone_based_vega_gene	.	.	.	SNV	RP11-93K22.13,intron_variant,,ENST00000514010,;AC083906.2,upstream_gene_variant,,ENST00000578837,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000503500,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000507643,;ALG1L2,upstream_gene_variant,,ENST00000511726,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000425059,;ALG1L2,non_coding_transcript_exon_variant,,ENST00000506370,;	.	126	67	SUCCESS
NEK10	152110	.	GRCh37	3	27152780	27152780	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	61	0	ENST00000429845.2:c.3502C>T	p.His1168Tyr	p.H1168Y	ENST00000429845		1168	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	.	.	3502	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTGATTCT	NONE	.	.	.	.	.	ENSP00000395849	.	39/39	.	.	.	.	.	.	.	.	COSM4116662,COSM4116661	39/39	PASS	ENST00000429845	Transcript	.	.	ENSG00000163491	18592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.001)	.	tolerated_low_confidence(1)	1,1	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI0000EE2A86	SNV	NEK10,missense_variant,p.His1168Tyr,ENST00000429845,;NEK10,missense_variant,p.His470Tyr,ENST00000383771,;NEK10,missense_variant,p.His480Tyr,ENST00000295720,;NEK10,missense_variant,p.His423Tyr,ENST00000383770,;	3865	61	41	SUCCESS
ZCWPW2	152098	.	GRCh37	3	28520305	28520305	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	55	141	1	ENST00000383768.2:c.493C>A	p.Pro165Thr	p.P165T	ENST00000383768		165	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33723.1	493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGCCAGAA	NONE	.	.	Superfamily_domains:SSF63748,Pfam_domain:PF00855,Gene3D:2.30.30.160,hmmpanther:PTHR15999:SF3,hmmpanther:PTHR15999	.	.	ENSP00000373278	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000383768	Transcript	.	.	ENSG00000206559	23574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated(0.18)	.	ZCPW2_HUMAN	ZCWPW2	HGNC	C9JFK0_HUMAN	.	UPI0000161ABF	SNV	ZCWPW2,missense_variant,p.Pro165Thr,ENST00000383768,;ZCWPW2,missense_variant,p.Pro50Thr,ENST00000419130,;ZCWPW2,missense_variant,p.Pro165Thr,ENST00000421010,;	681	142	155	SUCCESS
FYCO1	79443	.	GRCh37	3	46000930	46000930	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs764117873	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	81	0	ENST00000296137.2:c.3542A>G	p.Asp1181Gly	p.D1181G	ENST00000296137	NM_024513.3	1181	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS2734.1	3542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTCGAGG	NONE	.	.	PROSITE_profiles:PS50178,hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851,Pfam_domain:PF01363,Gene3D:3.30.40.10,SMART_domains:SM00064,Superfamily_domains:SSF57903	.	.	ENSP00000296137	.	12/18	.	.	.	.	.	.	.	.	rs764117873	12/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.29)	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,missense_variant,p.Asp1181Gly,ENST00000296137,;FYCO1,missense_variant,p.Asp1181Gly,ENST00000535325,;FYCO1,upstream_gene_variant,,ENST00000433878,;FYCO1,upstream_gene_variant,,ENST00000438446,;	3748	81	44	SUCCESS
CADPS	8618	.	GRCh37	3	62467525	62467525	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	32	152	0	ENST00000383710.4:c.3046C>A	p.Pro1016Thr	p.P1016T	ENST00000383710	NM_003716.3	1016	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS46858.1	3046	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGTAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166,PROSITE_profiles:PS51258	.	.	ENSP00000373215	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.641)	.	tolerated(0.06)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Pro1016Thr,ENST00000383710,;CADPS,missense_variant,p.Pro3Thr,ENST00000473635,;CADPS,intron_variant,,ENST00000357948,;CADPS,intron_variant,,ENST00000283269,;CADPS,upstream_gene_variant,,ENST00000466621,;CADPS,intron_variant,,ENST00000463002,;CADPS,intron_variant,,ENST00000478570,;CADPS,upstream_gene_variant,,ENST00000478408,;	3396	152	102	SUCCESS
PDZRN3	23024	.	GRCh37	3	73453378	73453378	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs760956222	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	102	0	ENST00000263666.4:c.1087A>C	p.Thr363Pro	p.T363P	ENST00000263666	NM_015009.1	363	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS33789.1	1087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGTGATGT	NONE	.	.	hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545	.	.	ENSP00000263666	.	4/10	.	.	.	.	.	.	.	.	rs760956222	4/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0)	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,missense_variant,p.Thr20Pro,ENST00000466780,;PDZRN3,missense_variant,p.Thr363Pro,ENST00000263666,;PDZRN3,missense_variant,p.Thr20Pro,ENST00000462146,;PDZRN3,missense_variant,p.Thr80Pro,ENST00000479530,;PDZRN3,missense_variant,p.Thr85Pro,ENST00000535920,;PDZRN3,missense_variant,p.Thr61Pro,ENST00000492909,;PDZRN3,upstream_gene_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000308537,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000498048,;PDZRN3,upstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,upstream_gene_variant,,ENST00000484487,;	1202	102	77	SUCCESS
EGF	1950	.	GRCh37	4	110925746	110925746	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	40	0	ENST00000265171.5:c.3259G>T	p.Glu1087Ter	p.E1087*	ENST00000265171	NM_001963.4	1087	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS3689.1	3259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGAGGAT	NONE	.	.	PIRSF_domain:PIRSF001778	.	.	ENSP00000265171	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000265171	Transcript	1	.	ENSG00000138798	3229	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGF_HUMAN	EGF	HGNC	Q6QBS2_HUMAN	.	UPI000013D5C8	SNV	EGF,stop_gained,p.Glu1046Ter,ENST00000503392,;EGF,stop_gained,p.Glu1087Ter,ENST00000265171,;EGF,stop_gained,p.Glu1045Ter,ENST00000509793,;EGF,non_coding_transcript_exon_variant,,ENST00000509996,;EGF,non_coding_transcript_exon_variant,,ENST00000540840,;EGF,non_coding_transcript_exon_variant,,ENST00000537316,;EGF,non_coding_transcript_exon_variant,,ENST00000544918,;	3704	40	35	SUCCESS
TLL1	7092	.	GRCh37	4	166981307	166981307	+	synonymous_variant	Silent	SNP	G	G	A	rs891909769	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	86	0	ENST00000061240.2:c.1974G>A	p.Val658=	p.V658=	ENST00000061240	NM_012464.4	658	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS3811.1	1974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTGAAGTT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,synonymous_variant,p.%3D,ENST00000061240,;TLL1,synonymous_variant,p.%3D,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2621	86	49	SUCCESS
TMEM129	92305	.	GRCh37	4	1720290	1720298	+	inframe_deletion	In_Frame_Del	DEL	GGGGCCTGG	GGGGCCTGG	-	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	GGGGCCTGG	GGGGCCTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	39	0	ENST00000382936.3:c.261_269del	p.Gln88_Pro90del	p.Q88_P90del	ENST00000382936	NM_001127266.1	87	agCCAGGCCCCt/agt	0	.	.	.	.	.	-	SQAP/S	protein_coding	YES	CCDS46998.1	261-269	INDELOCATOR|VARSCANI	.	GCCTCAGGGGCCTGGCTGAG	NONE	.	.	hmmpanther:PTHR31322,hmmpanther:PTHR31322:SF1,Pfam_domain:PF10272	.	.	ENSP00000372394	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000382936	Transcript	.	.	ENSG00000168936	25137	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM129_HUMAN	TMEM129	HGNC	.	.	UPI000011DC08	deletion	TMEM129,inframe_deletion,p.Gln88_Pro90del,ENST00000382936,;TMEM129,inframe_deletion,p.Gln88_Pro90del,ENST00000303277,;TMEM129,inframe_deletion,p.Gln88_Pro90del,ENST00000536901,;TACC3,upstream_gene_variant,,ENST00000313288,;TACC3,upstream_gene_variant,,ENST00000493975,;TACC3,upstream_gene_variant,,ENST00000458173,;TACC3,upstream_gene_variant,,ENST00000485989,;RP11-572O17.1,downstream_gene_variant,,ENST00000605571,;TMEM129,3_prime_UTR_variant,,ENST00000480360,;TMEM129,upstream_gene_variant,,ENST00000460722,;TMEM129,upstream_gene_variant,,ENST00000476253,;TACC3,upstream_gene_variant,,ENST00000467746,;TACC3,upstream_gene_variant,,ENST00000484651,;	755-763	39	20	SUCCESS
SPCS3	60559	.	GRCh37	4	177241334	177241334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	35	0	ENST00000503362.1:c.107G>A	p.Ser36Asn	p.S36N	ENST00000503362	NM_021928.3	36	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS54823.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCGTCC	NONE	.	.	hmmpanther:PTHR12804,hmmpanther:PTHR12804:SF1,Pfam_domain:PF04573,PIRSF_domain:PIRSF016089	.	.	ENSP00000427463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000503362	Transcript	.	.	ENSG00000129128	26212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.32)	.	SPCS3_HUMAN	SPCS3	HGNC	.	.	UPI0000000968	SNV	SPCS3,missense_variant,p.Ser36Asn,ENST00000503362,;RP11-87F15.2,non_coding_transcript_exon_variant,,ENST00000512634,;SPCS3,non_coding_transcript_exon_variant,,ENST00000513139,;SPCS3,non_coding_transcript_exon_variant,,ENST00000507678,;	220	35	27	SUCCESS
ATP10D	57205	.	GRCh37	4	47563023	47563023	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	71	1	ENST00000273859.3:c.2599A>T	p.Ser867Cys	p.S867C	ENST00000273859	NM_020453.3	867	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS3476.1	2599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCAGCATT	NONE	.	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Gene3D:3.40.1110.10,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF81660	.	.	ENSP00000273859	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000273859	Transcript	.	.	ENSG00000145246	13549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AT10D_HUMAN	ATP10D	HGNC	.	.	UPI00001AE9B7	SNV	ATP10D,missense_variant,p.Ser867Cys,ENST00000273859,;AC092597.3,upstream_gene_variant,,ENST00000508081,;ATP10D,3_prime_UTR_variant,,ENST00000503288,;	2868	72	41	SUCCESS
SHROOM3	57619	.	GRCh37	4	77676213	77676213	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	29	0	ENST00000296043.6:c.4577T>G	p.Leu1526Arg	p.L1526R	ENST00000296043	NM_020859.3	1526	cTt/cGt	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS3579.2	4577	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTTCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	.	.	ENSP00000296043	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0.03)	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,missense_variant,p.Leu1526Arg,ENST00000296043,;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,downstream_gene_variant,,ENST00000469923,;	5530	29	24	SUCCESS
NSD1	64324	.	GRCh37	5	176562319	176562319	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs753071414	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	68	1	ENST00000439151.2:c.215T>G	p.Leu72Arg	p.L72R	ENST00000439151	NM_022455.4	72	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS4412.1	215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACTGCGGA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	.	.	ENSP00000395929	.	2/23	.	.	.	.	.	.	.	.	rs753071414	2/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Leu72Arg,ENST00000361032,;NSD1,missense_variant,p.Leu72Arg,ENST00000439151,;NSD1,intron_variant,,ENST00000354179,;NSD1,intron_variant,,ENST00000508896,;NSD1,intron_variant,,ENST00000347982,;NSD1,intron_variant,,ENST00000511258,;NSD1,intron_variant,,ENST00000510954,;NSD1,non_coding_transcript_exon_variant,,ENST00000602285,;NSD1,non_coding_transcript_exon_variant,,ENST00000512992,;	260	69	63	SUCCESS
DROSHA	29102	.	GRCh37	5	31451640	31451640	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs543636934	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	101	246	2	ENST00000344624.3:c.2682G>T	p.Gln894His	p.Q894H	ENST00000344624		894	caG/caT	0	.	T:0.0008	.	T:0	.	A	Q/H	protein_coding	YES	CCDS47195.1	2682	RADIA|VARSCANS	.	CTTACCTGCAA	NONE	by1000G	.	Superfamily_domains:SSF69065,Gene3D:1.10.1520.10,hmmpanther:PTHR11207,PROSITE_profiles:PS50142	T:0	.	ENSP00000425979	T:0	20/35	.	.	.	.	.	.	.	.	rs543636934	20/35	PASS	ENST00000511367	Transcript	.	T:0.0002	ENSG00000113360	17904	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.248)	T:0	tolerated(0.05)	.	RNC_HUMAN	DROSHA	HGNC	E5RHD1_HUMAN	.	UPI0000134351	SNV	DROSHA,missense_variant,p.Gln857His,ENST00000442743,;DROSHA,missense_variant,p.Gln894His,ENST00000511367,;DROSHA,missense_variant,p.Gln857His,ENST00000513349,;DROSHA,missense_variant,p.Gln894His,ENST00000344624,;DROSHA,splice_region_variant,,ENST00000505601,;DROSHA,splice_region_variant,,ENST00000507174,;	2927	248	210	SUCCESS
BVES	11149	.	GRCh37	6	105577315	105577315	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748009650	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	95	0	ENST00000314641.5:c.290A>G	p.Asn97Ser	p.N97S	ENST00000314641	NM_001199563.1	97	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS5051.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTTCCAG	NONE	.	.	hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101,Transmembrane_helices:TMhelix	.	.	ENSP00000313172	.	3/8	.	.	.	.	.	.	.	.	rs748009650	3/8	PASS	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.16)	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,missense_variant,p.Asn97Ser,ENST00000336775,;BVES,missense_variant,p.Asn97Ser,ENST00000446408,;BVES,missense_variant,p.Asn97Ser,ENST00000314641,;	507	96	71	SUCCESS
FIG4	9896	.	GRCh37	6	110146392	110146392	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	58	0	ENST00000230124.3:c.2648G>A	p.Ser883Asn	p.S883N	ENST00000230124	NM_014845.5	883	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS5078.1	2648	RADIA|VARSCANS	.	GGCCAGCCAAG	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9	.	.	ENSP00000230124	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.018)	.	deleterious(0.01)	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,missense_variant,p.Ser577Asn,ENST00000441478,;FIG4,missense_variant,p.Ser883Asn,ENST00000230124,;RP1-249I4.2,upstream_gene_variant,,ENST00000458693,;	2772	58	36	SUCCESS
CDKN1A	1026	.	GRCh37	6	36651926	36651926	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	42	0	ENST00000244741.5:c.49del	p.Ala17ProfsTer14	p.A17Pfs*14	ENST00000244741	NM_000389.4	16	aaG/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS4824.1	48	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCAAGGCCTG	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16,Gene3D:1jsuC00	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	deletion	CDKN1A,frameshift_variant,p.Ala17ProfsTer14,ENST00000244741,;CDKN1A,frameshift_variant,p.Ala17ProfsTer14,ENST00000373711,;CDKN1A,frameshift_variant,p.Ala51ProfsTer14,ENST00000448526,;CDKN1A,frameshift_variant,p.Ala17ProfsTer14,ENST00000405375,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	283	42	24	SUCCESS
CDKN1A	1026	.	GRCh37	6	36652015	36652015	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	29	0	ENST00000244741.5:c.137del	p.Arg46LeufsTer102	p.R46Lfs*102	ENST00000244741	NM_000389.4	46	cGt/ct	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS4824.1	137	VARSCANI*|PINDEL	.	AGGCCCGTGAGC	BUFFER|p.W49*|c.146G>A|4	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16,Pfam_domain:PF02234,Gene3D:1jsuC00	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	deletion	CDKN1A,frameshift_variant,p.Arg46LeufsTer102,ENST00000244741,;CDKN1A,frameshift_variant,p.Arg46LeufsTer102,ENST00000373711,;CDKN1A,frameshift_variant,p.Arg80LeufsTer102,ENST00000448526,;CDKN1A,frameshift_variant,p.Arg46LeufsTer102,ENST00000405375,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	372	29	24	SUCCESS
TMEM63B	55362	.	GRCh37	6	44119668	44119668	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	71	1	ENST00000259746.9:c.1759C>T	p.Arg587Cys	p.R587C	ENST00000259746		587	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS34461.1	1759	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCGCATC	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF02714,hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018	.	.	ENSP00000259746	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000259746	Transcript	.	.	ENSG00000137216	17735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TM63B_HUMAN	TMEM63B	HGNC	E9PNG1_HUMAN	.	UPI000020DDEE	SNV	TMEM63B,missense_variant,p.Arg516Cys,ENST00000371893,;TMEM63B,missense_variant,p.Arg587Cys,ENST00000323267,;TMEM63B,missense_variant,p.Arg587Cys,ENST00000259746,;TMEM63B,missense_variant,p.Arg403Cys,ENST00000533121,;TMEM63B,downstream_gene_variant,,ENST00000497371,;TMEM63B,downstream_gene_variant,,ENST00000525873,;TMEM63B,downstream_gene_variant,,ENST00000534326,;	1942	72	34	SUCCESS
FAM135A	57579	.	GRCh37	6	71243558	71243558	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs746893485	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	62	0	ENST00000370479.3:c.3326+1G>T		p.X1109_splice	ENST00000370479		1109		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55028.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGGTATCT	NONE	.	.	.	.	.	ENSP00000410768	.	.	.	.	.	.	.	.	.	.	rs746893485	.	PASS	ENST00000418814	Transcript	.	.	ENSG00000082269	21084	.	.	HIGH	18/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F135A_HUMAN	FAM135A	HGNC	D6RFG9_HUMAN,D6REA8_HUMAN,D6RC17_HUMAN	.	UPI000004A0FF	SNV	FAM135A,splice_donor_variant,,ENST00000457062,;FAM135A,splice_donor_variant,,ENST00000505868,;FAM135A,splice_donor_variant,,ENST00000361499,;FAM135A,splice_donor_variant,,ENST00000505769,;FAM135A,splice_donor_variant,,ENST00000418814,;FAM135A,splice_donor_variant,,ENST00000370479,;FAM135A,splice_donor_variant,,ENST00000194672,;FAM135A,upstream_gene_variant,,ENST00000507049,;	.	62	59	SUCCESS
TRIM56	81844	.	GRCh37	7	100732207	100732207	+	synonymous_variant	Silent	SNP	C	C	T	rs753220033	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	25	0	ENST00000306085.6:c.1614C>T	p.Gly538=	p.G538=	ENST00000306085	NM_030961.1	538	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43625.1	1614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGGCGACTA	NONE	byFrequency	.	Superfamily_domains:0047643,Gene3D:2.120.10.30,hmmpanther:PTHR24103:SF287,hmmpanther:PTHR24103	.	.	ENSP00000305161	.	3/3	.	.	.	.	.	.	.	.	rs753220033,COSM1241851,COSM1241850	3/3	PASS	ENST00000306085	Transcript	.	.	ENSG00000169871	19028	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	TRI56_HUMAN	TRIM56	HGNC	.	.	UPI0000171C4A	SNV	TRIM56,synonymous_variant,p.%3D,ENST00000306085,;TRIM56,intron_variant,,ENST00000412507,;TRIM56,upstream_gene_variant,,ENST00000487252,;TRIM56,downstream_gene_variant,,ENST00000467847,;	1911	25	23	SUCCESS
TMEM106B	54664	.	GRCh37	7	12269401	12269401	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs768078337	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	69	286	1	ENST00000396667.3:c.538C>T	p.Arg180Cys	p.R180C	ENST00000396667	NM_018374.3	180	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS5358.1	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCACGCTTA	NONE	.	.	Pfam_domain:PF07092,Superfamily_domains:0051044	.	.	ENSP00000379901	.	6/9	.	.	.	.	.	.	.	.	rs768078337	6/9	PASS	ENST00000396667	Transcript	.	.	ENSG00000106460	22407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	tolerated(0.08)	.	T106B_HUMAN	TMEM106B	HGNC	C9JZ87_HUMAN,C9J998_HUMAN	.	UPI000003ED3C	SNV	TMEM106B,missense_variant,p.Arg180Cys,ENST00000396667,;TMEM106B,missense_variant,p.Arg180Cys,ENST00000396668,;TMEM106B,3_prime_UTR_variant,,ENST00000420833,;TMEM106B,non_coding_transcript_exon_variant,,ENST00000492762,;TMEM106B,upstream_gene_variant,,ENST00000462754,;	860	287	219	SUCCESS
NME8	51314	.	GRCh37	7	37890296	37890296	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	85	0	ENST00000199447.4:c.157A>T	p.Lys53Ter	p.K53*	ENST00000199447	NM_016616.4	53	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS5452.1	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGAAAAAT	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR11349:SF45,hmmpanther:PTHR11349,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000199447	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000199447	Transcript	.	.	ENSG00000086288	16473	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXND3_HUMAN	NME8	HGNC	.	.	UPI00000700CB	SNV	NME8,stop_gained,p.Lys53Ter,ENST00000440017,;NME8,stop_gained,p.Lys53Ter,ENST00000199447,;NME8,intron_variant,,ENST00000444718,;NME8,intron_variant,,ENST00000455500,;EPDR1,intron_variant,,ENST00000476620,;NME8,intron_variant,,ENST00000426106,;	529	85	79	SUCCESS
USP42	84132	.	GRCh37	7	6185161	6185161	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	107	1	ENST00000306177.5:c.1005T>A	p.Pro335=	p.P335=	ENST00000306177	NM_032172.2	335	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47535.1	1005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCTGAGTA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	.	.	ENSP00000301962	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,synonymous_variant,p.%3D,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,3_prime_UTR_variant,,ENST00000404008,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	1163	108	69	SUCCESS
POR	5447	.	GRCh37	7	75610852	75610852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	23	0	ENST00000394893.1:c.659T>A	p.Ile220Asn	p.I220N	ENST00000394893		220	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS5579.1	659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATCACCT	NONE	.	.	PROSITE_profiles:PS50902,hmmpanther:PTHR19384,Pfam_domain:PF00258,Gene3D:3.40.50.360,PIRSF_domain:PIRSF000208,Superfamily_domains:SSF52218	.	.	ENSP00000419970	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000461988	Transcript	.	.	ENSG00000127948	9208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.492)	.	deleterious(0)	.	NCPR_HUMAN	POR	HGNC	Q59ED7_HUMAN,E7EMD0_HUMAN,C9JQ78_HUMAN	.	UPI000013D5F4	SNV	POR,missense_variant,p.Ile220Asn,ENST00000394893,;POR,missense_variant,p.Ile220Asn,ENST00000461988,;POR,missense_variant,p.Ile28Asn,ENST00000545601,;POR,missense_variant,p.Ile34Asn,ENST00000419840,;POR,missense_variant,p.Ile271Asn,ENST00000447222,;POR,missense_variant,p.Ile119Asn,ENST00000450476,;POR,downstream_gene_variant,,ENST00000439297,;POR,downstream_gene_variant,,ENST00000432753,;POR,downstream_gene_variant,,ENST00000414186,;POR,downstream_gene_variant,,ENST00000453773,;POR,downstream_gene_variant,,ENST00000426184,;POR,downstream_gene_variant,,ENST00000412521,;POR,downstream_gene_variant,,ENST00000439963,;POR,upstream_gene_variant,,ENST00000439269,;POR,downstream_gene_variant,,ENST00000475509,;POR,missense_variant,p.His178Gln,ENST00000454934,;POR,non_coding_transcript_exon_variant,,ENST00000460892,;POR,intron_variant,,ENST00000412064,;POR,upstream_gene_variant,,ENST00000487247,;POR,upstream_gene_variant,,ENST00000495770,;POR,downstream_gene_variant,,ENST00000448410,;POR,downstream_gene_variant,,ENST00000471238,;POR,upstream_gene_variant,,ENST00000493973,;POR,upstream_gene_variant,,ENST00000496888,;	764	23	20	SUCCESS
POR	5447	.	GRCh37	7	75610853	75610853	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs782266991	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	23	0	ENST00000394893.1:c.660C>G	p.Ile220Met	p.I220M	ENST00000394893		220	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS5579.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCACCTG	NONE	.	.	PROSITE_profiles:PS50902,hmmpanther:PTHR19384,Pfam_domain:PF00258,Gene3D:3.40.50.360,PIRSF_domain:PIRSF000208,Superfamily_domains:SSF52218	.	.	ENSP00000419970	.	7/16	.	.	.	.	.	.	.	.	rs782266991	7/16	PASS	ENST00000461988	Transcript	.	.	ENSG00000127948	9208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	tolerated(0.21)	.	NCPR_HUMAN	POR	HGNC	Q59ED7_HUMAN,E7EMD0_HUMAN,C9JQ78_HUMAN	.	UPI000013D5F4	SNV	POR,missense_variant,p.Ile220Met,ENST00000394893,;POR,missense_variant,p.Ile220Met,ENST00000461988,;POR,missense_variant,p.Ile28Met,ENST00000545601,;POR,missense_variant,p.Ile34Met,ENST00000419840,;POR,missense_variant,p.Ile271Met,ENST00000447222,;POR,missense_variant,p.Ile119Met,ENST00000450476,;POR,downstream_gene_variant,,ENST00000439297,;POR,downstream_gene_variant,,ENST00000432753,;POR,downstream_gene_variant,,ENST00000414186,;POR,downstream_gene_variant,,ENST00000453773,;POR,downstream_gene_variant,,ENST00000426184,;POR,downstream_gene_variant,,ENST00000412521,;POR,downstream_gene_variant,,ENST00000439963,;POR,upstream_gene_variant,,ENST00000439269,;POR,downstream_gene_variant,,ENST00000475509,;POR,missense_variant,p.His179Asp,ENST00000454934,;POR,non_coding_transcript_exon_variant,,ENST00000460892,;POR,intron_variant,,ENST00000412064,;POR,upstream_gene_variant,,ENST00000487247,;POR,upstream_gene_variant,,ENST00000495770,;POR,downstream_gene_variant,,ENST00000448410,;POR,downstream_gene_variant,,ENST00000471238,;POR,upstream_gene_variant,,ENST00000493973,;POR,upstream_gene_variant,,ENST00000496888,;	765	23	20	SUCCESS
PCLO	27445	.	GRCh37	7	82582627	82582636	+	frameshift_variant	Frame_Shift_Del	DEL	TCACTAAATT	TCACTAAATT	-	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	TCACTAAATT	TCACTAAATT	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	50	0	ENST00000333891.9:c.7633_7642del	p.Asn2545LeufsTer34	p.N2545Lfs*34	ENST00000333891	NM_033026.5	2545	AATTTAGTGAct/ct	0	.	.	.	.	.	-	NLVT/X	protein_coding	YES	CCDS47630.1	7633-7642	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGAAGTCACTAAATTTAAGG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	deletion	PCLO,frameshift_variant,p.Asn2545LeufsTer34,ENST00000333891,;PCLO,frameshift_variant,p.Asn2545LeufsTer34,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7971-7980	50	32	SUCCESS
NOV	0	.	GRCh37	8	120431544	120431544	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770974357	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	23	0	ENST00000259526.3:c.736G>A	p.Val246Met	p.V246M	ENST00000259526	NM_002514.3	246	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS6328.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGTGCGG	NONE	.	.	Superfamily_domains:SSF82895,PIRSF_domain:PIRSF036495,SMART_domains:SM00209,Pfam_domain:PF00090,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS50092	.	.	ENSP00000259526	.	4/5	.	.	.	.	.	.	.	.	rs770974357	4/5	PASS	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.734)	.	deleterious(0.02)	.	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,missense_variant,p.Val246Met,ENST00000259526,;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	963	23	78	SUCCESS
ZHX2	22882	.	GRCh37	8	123965871	123965871	+	synonymous_variant	Silent	SNP	C	C	T	rs186468091	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	19	1	ENST00000314393.4:c.2121C>T	p.Ala707=	p.A707=	ENST00000314393	NM_014943.3	707	gcC/gcT	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS6336.1	2121	SOMATICSNIPER|VARSCANS	.	GATGCCGTAGC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5	T:0.001	.	ENSP00000314709	T:0	3/4	.	.	.	.	.	.	.	.	rs186468091,COSM3698814	3/4	PASS	ENST00000314393	Transcript	.	T:0.0002	ENSG00000178764	18513	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	T:0	.	0,1	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,synonymous_variant,p.%3D,ENST00000314393,;ZHX2,downstream_gene_variant,,ENST00000534247,;	2956	20	64	SUCCESS
ZHX1	11244	.	GRCh37	8	124265573	124265573	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	271	125	2	ENST00000297857.2:c.2614G>A	p.Asp872Asn	p.D872N	ENST00000297857		872	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6342.1	2614	RADIA|SOMATICSNIPER|VARSCANS	.	GTCATCTGATT	NONE	.	.	hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467	.	.	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.91)	.	deleterious_low_confidence(0.01)	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	SNV	ZHX1,missense_variant,p.Asp872Asn,ENST00000395571,;ZHX1,missense_variant,p.Asp872Asn,ENST00000522655,;ZHX1,missense_variant,p.Asp38Asn,ENST00000602651,;ZHX1,missense_variant,p.Asp872Asn,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000480132,;ZHX1,downstream_gene_variant,,ENST00000524267,;	3232	127	339	SUCCESS
CCAR2	57805	.	GRCh37	8	22471762	22471762	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	64	0	ENST00000308511.4:c.862G>C	p.Glu288Gln	p.E288Q	ENST00000308511		288	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS34863.1	862	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGAGGCA	NONE	.	.	hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF12	.	.	ENSP00000310670	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000308511	Transcript	.	.	ENSG00000158941	23360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	deleterious(0.03)	.	CCAR2_HUMAN	CCAR2	HGNC	E5RGU7_HUMAN,E5RFJ3_HUMAN,E2PSM9_HUMAN	.	UPI0000070A46	SNV	CCAR2,missense_variant,p.Glu288Gln,ENST00000389279,;CCAR2,missense_variant,p.Glu288Gln,ENST00000308511,;CCAR2,missense_variant,p.Glu106Gln,ENST00000522599,;CCAR2,5_prime_UTR_variant,,ENST00000520861,;CCAR2,upstream_gene_variant,,ENST00000520738,;RP11-582J16.5,non_coding_transcript_exon_variant,,ENST00000521025,;CCAR2,non_coding_transcript_exon_variant,,ENST00000521020,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,upstream_gene_variant,,ENST00000521436,;	1111	64	22	SUCCESS
ANK1	286	.	GRCh37	8	41552758	41552758	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	15	40	0	ENST00000347528.4:c.3052A>G	p.Lys1018Glu	p.K1018E	ENST00000347528	NM_020477.2	1018	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS47849.1	3175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTCCACA	NONE	.	.	PROSITE_profiles:PS51145,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	.	.	ENSP00000265709	.	28/43	.	.	.	.	.	.	.	.	.	28/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.303)	.	deleterious(0)	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Lys1059Glu,ENST00000265709,;ANK1,missense_variant,p.Lys1018Glu,ENST00000289734,;ANK1,missense_variant,p.Lys1018Glu,ENST00000347528,;ANK1,missense_variant,p.Lys340Glu,ENST00000520299,;ANK1,missense_variant,p.Lys1018Glu,ENST00000352337,;ANK1,missense_variant,p.Lys1018Glu,ENST00000379758,;ANK1,missense_variant,p.Lys1018Glu,ENST00000396942,;ANK1,missense_variant,p.Lys1018Glu,ENST00000396945,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000518061,;ANK1,upstream_gene_variant,,ENST00000524069,;	3457	40	18	SUCCESS
IL7	3574	.	GRCh37	8	79652259	79652259	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	551	76	244	1	ENST00000263851.4:c.206G>T	p.Arg69Ile	p.R69I	ENST00000263851	NM_001199886.1	69	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS6224.1	206	RADIA|MUTECT|MUSE|VARSCANS	.	TATGTCTTTTA	NONE	.	.	hmmpanther:PTHR10526,Pfam_domain:PF01415,PIRSF_domain:PIRSF001942,SMART_domains:SM00127,Prints_domain:PR00435	.	.	ENSP00000263851	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000263851	Transcript	.	.	ENSG00000104432	6023	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	IL7_HUMAN	IL7	HGNC	Q5FBY8_HUMAN,D0EYG7_HUMAN	.	UPI00000622F3	SNV	IL7,missense_variant,p.Arg69Ile,ENST00000263851,;IL7,missense_variant,p.Arg69Ile,ENST00000520269,;IL7,missense_variant,p.Arg18Ile,ENST00000541183,;IL7,non_coding_transcript_exon_variant,,ENST00000519833,;IL7,upstream_gene_variant,,ENST00000523959,;IL7,3_prime_UTR_variant,,ENST00000520317,;IL7,3_prime_UTR_variant,,ENST00000518982,;IL7,3_prime_UTR_variant,,ENST00000520215,;	807	245	627	SUCCESS
OR13D1	286365	.	GRCh37	9	107457526	107457526	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs182904893	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	18	134	0	ENST00000318763.5:c.824C>T	p.Ala275Val	p.A275V	ENST00000318763	NM_001004484.1	275	gCg/gTg	0	T:0.0002	T:0.0008	.	T:0	.	T	A/V	protein_coding	YES	CCDS35094.1	824	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCGCACT	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF129,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	T:0	T:0	ENSP00000317357	T:0	1/1	.	.	.	.	.	.	.	.	rs182904893,COSM1237874	1/1	PASS	ENST00000318763	Transcript	.	T:0.0002	ENSG00000179055	14695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	possibly_damaging(0.899)	T:0	deleterious(0)	0,1	O13D1_HUMAN	OR13D1	HGNC	.	.	UPI0000061E68	SNV	OR13D1,missense_variant,p.Ala275Val,ENST00000318763,;	867	134	106	SUCCESS
ENOX2	10495	.	GRCh37	X	129813524	129813524	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1366010885	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	41	77	0	ENST00000338144.3:c.539A>G	p.Tyr180Cys	p.Y180C	ENST00000338144	NM_182314.1	180	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS14626.1	539	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATACAGG	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF7,PROSITE_profiles:PS50102	.	.	ENSP00000337146	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000338144	Transcript	.	.	ENSG00000165675	2259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	ENOX2_HUMAN	ENOX2	HGNC	B1AKF7_HUMAN	.	UPI00000729D5	SNV	ENOX2,missense_variant,p.Tyr180Cys,ENST00000370927,;ENOX2,missense_variant,p.Tyr151Cys,ENST00000432489,;ENOX2,missense_variant,p.Tyr180Cys,ENST00000338144,;ENOX2,missense_variant,p.Tyr151Cys,ENST00000394363,;ENOX2,missense_variant,p.Tyr151Cys,ENST00000370935,;ENOX2,downstream_gene_variant,,ENST00000492263,;	957	77	47	SUCCESS
ITM2A	9452	.	GRCh37	X	78618536	78618536	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	52	103	0	ENST00000373298.2:c.344C>T	p.Ala115Val	p.A115V	ENST00000373298	NM_004867.4	115	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS14444.1	344	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAGCCTCC	NONE	.	.	hmmpanther:PTHR10962,hmmpanther:PTHR10962:SF7	.	.	ENSP00000362395	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000373298	Transcript	.	.	ENSG00000078596	6173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.078)	.	tolerated(1)	.	ITM2A_HUMAN	ITM2A	HGNC	.	.	UPI000000D98A	SNV	ITM2A,missense_variant,p.Ala115Val,ENST00000373298,;ITM2A,missense_variant,p.Ala71Val,ENST00000434584,;ITM2A,non_coding_transcript_exon_variant,,ENST00000482194,;ITM2A,non_coding_transcript_exon_variant,,ENST00000469541,;ITM2A,downstream_gene_variant,,ENST00000461357,;ITM2A,downstream_gene_variant,,ENST00000462038,;	488	104	65	SUCCESS
TBL1X	6907	.	GRCh37	X	9677338	9677338	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	32	85	0	ENST00000217964.7:c.1287C>G	p.Ser429=	p.S429=	ENST00000217964	NM_005647.3	429	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS14133.1	1287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCTGCTC	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22846,hmmpanther:PTHR22846:SF36,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000217964	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000217964	Transcript	.	.	ENSG00000101849	11585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBL1X_HUMAN	TBL1X	HGNC	C9JYQ8_HUMAN,C9JP56_HUMAN,C9JCW3_HUMAN,C9J5F9_HUMAN	.	UPI0000161FAF	SNV	TBL1X,synonymous_variant,p.%3D,ENST00000424279,;TBL1X,synonymous_variant,p.%3D,ENST00000217964,;TBL1X,synonymous_variant,p.%3D,ENST00000380961,;TBL1X,synonymous_variant,p.%3D,ENST00000407597,;TBL1X,synonymous_variant,p.%3D,ENST00000536365,;	1927	85	49	SUCCESS
EIF3A	8661	.	GRCh37	10	120801816	120801816	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	50	1	ENST00000369144.3:c.3216G>C	p.Gly1072=	p.G1072=	ENST00000369144	NM_003750.2	1072	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS7608.1	3216	RADIA|MUTECT	.	TCCAACCCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14005:SF0,hmmpanther:PTHR14005	.	.	ENSP00000358140	.	19/22	.	.	.	.	.	.	.	.	COSM3396944	19/22	PASS	ENST00000369144	Transcript	.	.	ENSG00000107581	3271	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	EIF3A_HUMAN	EIF3A	HGNC	F5H335_HUMAN	.	UPI000012D311	SNV	EIF3A,synonymous_variant,p.%3D,ENST00000541549,;EIF3A,synonymous_variant,p.%3D,ENST00000369144,;	3344	51	51	SUCCESS
INPP5F	22876	.	GRCh37	10	121587247	121587247	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	61	95	0	ENST00000361976.2:c.3354T>C	p.Leu1118=	p.L1118=	ENST00000361976	NM_014937.3	1118	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS7616.1	3354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTTAAAAA	NONE	.	.	.	.	.	ENSP00000354519	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000361976	Transcript	.	.	ENSG00000198825	17054	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAC2_HUMAN	INPP5F	HGNC	.	.	UPI000006FBCA	SNV	INPP5F,synonymous_variant,p.%3D,ENST00000361976,;INPP5F,synonymous_variant,p.%3D,ENST00000369080,;MCMBP,downstream_gene_variant,,ENST00000360003,;MCMBP,downstream_gene_variant,,ENST00000369077,;MCMBP,downstream_gene_variant,,ENST00000466047,;INPP5F,downstream_gene_variant,,ENST00000490818,;	3520	95	124	SUCCESS
GPR123	0	.	GRCh37	10	134942342	134942342	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374092448	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	60	0	ENST00000392607.3:c.1010C>T	p.Ala337Val	p.A337V	ENST00000392607	NM_001083909.1	337	gCg/gTg	0	T:0.0017	T:0.0015	.	T:0	.	T	A/V	protein_coding	YES	CCDS41580.1	1010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGCGCTGG	BUFFER|p.A1055A|c.3165C>T|4,BUFFER|p.A336A|c.1008C>T|4	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261	T:0	T:0	ENSP00000376384	T:0	7/7	.	.	.	.	.	.	.	.	rs374092448	7/7	PASS	ENST00000392607	Transcript	.	T:0.0004	ENSG00000197177	13838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	T:0	tolerated(0.22)	.	GP123_HUMAN	GPR123	HGNC	.	.	UPI00003D41AD	SNV	GPR123,missense_variant,p.Ala1056Val,ENST00000607359,;GPR123,missense_variant,p.Ala240Val,ENST00000392606,;GPR123,missense_variant,p.Ala337Val,ENST00000392607,;	1446	60	98	SUCCESS
BICC1	80114	.	GRCh37	10	60577443	60577443	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	7	94	0	ENST00000373886.3:c.2655G>C	p.Leu885=	p.L885=	ENST00000373886	NM_001080512.1	885	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS31206.1	2655	MUTECT|MUSE	.	AAACTGGGCCT	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF32,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000362993	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000373886	Transcript	1	.	ENSG00000122870	19351	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BICC1_HUMAN	BICC1	HGNC	.	.	UPI000059D156	SNV	BICC1,synonymous_variant,p.%3D,ENST00000373886,;BICC1,downstream_gene_variant,,ENST00000263103,;	2659	94	131	SUCCESS
LIPN	643418	.	GRCh37	10	90521199	90521199	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs374782630	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	38	74	0	ENST00000404459.1:c.37T>C	p.Cys13Arg	p.C13R	ENST00000404459	NM_001102469.1	13	Tgt/Cgt	0	C:0	.	.	.	.	C	C/R	protein_coding	YES	CCDS44456.1	37	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCTGTGGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF16,PIRSF_domain:PIRSF000862	.	C:0.0004	ENSP00000383923	.	1/9	.	.	.	.	.	.	.	.	rs374782630	1/9	PASS	ENST00000404459	Transcript	1	.	ENSG00000204020	23452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.35)	.	LIPN_HUMAN	LIPN	HGNC	.	.	UPI000150AF6A	SNV	LIPN,missense_variant,p.Cys13Arg,ENST00000404459,;	37	75	111	SUCCESS
R3HCC1L	27291	.	GRCh37	10	99994235	99994235	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	66	97	0	ENST00000298999.3:c.1994A>G	p.Asp665Gly	p.D665G	ENST00000298999	NM_014472.4	665	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS31267.1	1994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGATACAC	NONE	.	.	hmmpanther:PTHR21678:SF2,hmmpanther:PTHR21678,Gene3D:3.30.70.330	.	.	ENSP00000298999	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000298999	Transcript	.	.	ENSG00000166024	23512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	R3HCL_HUMAN	R3HCC1L	HGNC	.	.	UPI00001F94F0	SNV	R3HCC1L,missense_variant,p.Asp81Gly,ENST00000314594,;R3HCC1L,missense_variant,p.Asp665Gly,ENST00000298999,;R3HCC1L,missense_variant,p.Asp71Gly,ENST00000370586,;R3HCC1L,missense_variant,p.Asp665Gly,ENST00000370584,;	2297	97	107	SUCCESS
BHLHE41	79365	.	GRCh37	12	26275005	26275005	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	50	121	0	ENST00000242728.4:c.1443T>A	p.Ala481=	p.A481=	ENST00000242728	NM_030762.2	481	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8706.1	1443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGAGCTTC	NONE	.	.	.	.	.	ENSP00000242728	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000242728	Transcript	.	.	ENSG00000123095	16617	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHE41_HUMAN	BHLHE41	HGNC	.	.	UPI0000052B52	SNV	BHLHE41,synonymous_variant,p.%3D,ENST00000242728,;SSPN,5_prime_UTR_variant,,ENST00000538142,;RP11-283G6.3,downstream_gene_variant,,ENST00000545819,;RP11-283G6.3,downstream_gene_variant,,ENST00000535914,;SSPN,non_coding_transcript_exon_variant,,ENST00000534829,;BHLHE41,downstream_gene_variant,,ENST00000394326,;BHLHE41,downstream_gene_variant,,ENST00000541271,;	1791	121	123	SUCCESS
TM7SF3	51768	.	GRCh37	12	27133508	27133508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	72	0	ENST00000343028.4:c.1027A>G	p.Lys343Glu	p.K343E	ENST00000343028	NM_016551.2	343	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS8710.1	1027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTTGATAG	NONE	.	.	hmmpanther:PTHR15937,Pfam_domain:PF13886	.	.	ENSP00000342322	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000343028	Transcript	.	.	ENSG00000064115	23049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.72)	.	TM7S3_HUMAN	TM7SF3	HGNC	F5H587_HUMAN,F5H3K5_HUMAN,F5GXE1_HUMAN,F5GWC3_HUMAN	.	UPI0000136849	SNV	TM7SF3,missense_variant,p.Lys134Glu,ENST00000543655,;TM7SF3,missense_variant,p.Lys124Glu,ENST00000545303,;TM7SF3,missense_variant,p.Lys134Glu,ENST00000535819,;TM7SF3,missense_variant,p.Lys12Glu,ENST00000537406,;TM7SF3,missense_variant,p.Lys57Glu,ENST00000545344,;TM7SF3,missense_variant,p.Lys343Glu,ENST00000343028,;RP11-421F16.3,downstream_gene_variant,,ENST00000500632,;TM7SF3,intron_variant,,ENST00000542667,;TM7SF3,missense_variant,p.Lys134Glu,ENST00000535260,;TM7SF3,3_prime_UTR_variant,,ENST00000543882,;TM7SF3,upstream_gene_variant,,ENST00000541081,;TM7SF3,upstream_gene_variant,,ENST00000544179,;	1253	72	59	SUCCESS
ARID2	196528	.	GRCh37	12	46244622	46244622	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	147	10	144	0	ENST00000334344.6:c.2716G>C	p.Val906Leu	p.V906L	ENST00000334344	NM_152641.2	906	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS31783.1	2716	MUTECT|MUSE	.	AGCAAGTTTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970	.	.	ENSP00000335044	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated_low_confidence(0.7)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Val906Leu,ENST00000334344,;ARID2,missense_variant,p.Val516Leu,ENST00000444670,;ARID2,missense_variant,p.Val757Leu,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	2888	144	158	SUCCESS
HOXC4	3221	.	GRCh37	12	54448087	54448087	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	75	130	0	ENST00000303406.4:c.381C>T	p.Ser127=	p.S127=	ENST00000303406	NM_014620.4	127	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8873.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCGCCGC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF146	.	.	ENSP00000399808	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000430889	Transcript	.	.	ENSG00000273266	5126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC4_HUMAN	HOXC4	Uniprot_gn	.	.	UPI000013E89C	SNV	HOXC4,synonymous_variant,p.%3D,ENST00000430889,;HOXC4,synonymous_variant,p.%3D,ENST00000609810,;HOXC4,synonymous_variant,p.%3D,ENST00000303406,;RP11-834C11.3,upstream_gene_variant,,ENST00000515617,;HOXC4,downstream_gene_variant,,ENST00000507650,;	427	130	90	SUCCESS
A2M	2	.	GRCh37	12	9248257	9248257	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	33	92	0	ENST00000318602.7:c.1891C>A	p.Pro631Thr	p.P631T	ENST00000318602	NM_000014.4	631	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS44827.1	1891	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGGAAGC	NONE	.	.	hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412	.	.	ENSP00000323929	.	16/36	.	.	.	.	.	.	.	.	.	16/36	PASS	ENST00000318602	Transcript	.	.	ENSG00000175899	7	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.31)	.	A2MG_HUMAN	A2M	HGNC	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN	.	UPI000014038F	SNV	A2M,missense_variant,p.Pro631Thr,ENST00000318602,;A2M,upstream_gene_variant,,ENST00000543436,;A2M,intron_variant,,ENST00000545828,;A2M,synonymous_variant,p.%3D,ENST00000546069,;A2M,downstream_gene_variant,,ENST00000472360,;	2199	92	75	SUCCESS
APAF1	317	.	GRCh37	12	99071268	99071268	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1176032182	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	53	101	0	ENST00000551964.1:c.1859A>G	p.His620Arg	p.H620R	ENST00000551964	NM_181861.1	620	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS9069.1	1859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCATGCCT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,Pfam_domain:PF00400,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037646,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000448165	.	13/27	.	.	.	.	.	.	.	.	.	13/27	PASS	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	tolerated(0.25)	.	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.His620Arg,ENST00000357310,;APAF1,missense_variant,p.His609Arg,ENST00000550527,;APAF1,missense_variant,p.His620Arg,ENST00000339433,;APAF1,missense_variant,p.His620Arg,ENST00000547045,;APAF1,missense_variant,p.His609Arg,ENST00000359972,;APAF1,missense_variant,p.His620Arg,ENST00000549007,;APAF1,missense_variant,p.His620Arg,ENST00000551964,;APAF1,intron_variant,,ENST00000552268,;APAF1,intron_variant,,ENST00000333991,;	2595	101	112	SUCCESS
TM9SF2	9375	.	GRCh37	13	100172304	100172304	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	48	146	1	ENST00000376387.4:c.254A>T	p.Gln85Leu	p.Q85L	ENST00000376387	NM_004800.2	85	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS9493.1	254	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCAAGCAT	NONE	.	.	hmmpanther:PTHR10766:SF36,hmmpanther:PTHR10766,Pfam_domain:PF02990	.	.	ENSP00000365567	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000376387	Transcript	.	.	ENSG00000125304	11865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.33)	.	TM9S2_HUMAN	TM9SF2	HGNC	.	.	UPI000013684D	SNV	TM9SF2,missense_variant,p.Gln85Leu,ENST00000376387,;TM9SF2,non_coding_transcript_exon_variant,,ENST00000463709,;	444	147	72	SUCCESS
FAM194B	0	.	GRCh37	13	46170693	46170693	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	118	0	ENST00000298738.2:c.448G>A	p.Asp150Asn	p.D150N	ENST00000298738	NM_182542.2	150	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS45045.1	448	RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCTTCCT	NONE	.	.	hmmpanther:PTHR23093:SF12,hmmpanther:PTHR23093	.	.	ENSP00000298738	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000298738	Transcript	.	.	ENSG00000165837	26523	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.047)	.	tolerated(0.27)	.	F194B_HUMAN	FAM194B	HGNC	.	.	UPI000013E513	SNV	FAM194B,missense_variant,p.Asp150Asn,ENST00000298738,;FAM194B,non_coding_transcript_exon_variant,,ENST00000378977,;	613	118	73	SUCCESS
SPERT	0	.	GRCh37	13	46288182	46288182	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	24	72	0	ENST00000310521.1:c.1022A>G	p.Glu341Gly	p.E341G	ENST00000310521	NM_152719.1	341	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS9399.1	1022	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGGAGG	NONE	.	.	hmmpanther:PTHR21533:SF13,hmmpanther:PTHR21533	.	.	ENSP00000309189	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000310521	Transcript	.	.	ENSG00000174015	30720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.24)	.	SPERT_HUMAN	SPERT	HGNC	.	.	UPI0000070F5F	SNV	SPERT,missense_variant,p.Glu305Gly,ENST00000378966,;SPERT,missense_variant,p.Glu341Gly,ENST00000310521,;SPERT,downstream_gene_variant,,ENST00000533564,;	1102	72	32	SUCCESS
SLC25A47	283600	.	GRCh37	14	100795930	100795932	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	9	20	47	0	ENST00000361529.3:c.877_879del	p.Phe293del	p.F293del	ENST00000361529	NM_207117.2	292	gTCTtc/gtc	0	.	.	.	.	.	-	VF/V	protein_coding	YES	CCDS9959.1	875-877	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGTGGTCTTCGTC	NONE	.	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089:SF224,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	.	.	ENSP00000354886	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361529	Transcript	.	.	ENSG00000140107	20115	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S2547_HUMAN	SLC25A47	HGNC	G3V374_HUMAN	.	UPI000004ABFB	deletion	SLC25A47,inframe_deletion,p.Phe147del,ENST00000557052,;SLC25A47,inframe_deletion,p.Phe293del,ENST00000361529,;WARS,downstream_gene_variant,,ENST00000355338,;WARS,downstream_gene_variant,,ENST00000392882,;WARS,downstream_gene_variant,,ENST00000358655,;WARS,downstream_gene_variant,,ENST00000344102,;WARS,downstream_gene_variant,,ENST00000557135,;WARS,downstream_gene_variant,,ENST00000556645,;RP11-638I2.8,upstream_gene_variant,,ENST00000557226,;	953-955	47	29	SUCCESS
ATP6V1D	51382	.	GRCh37	14	67805346	67805346	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	39	91	0	ENST00000216442.7:c.736T>C	p.Phe246Leu	p.F246L	ENST00000216442	NM_015994.3	246	Ttt/Ctt	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS9780.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAATAGAA	BUFFER|p.E242G|c.725A>G|3	.	.	hmmpanther:PTHR11671	.	.	ENSP00000216442	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000216442	Transcript	.	.	ENSG00000100554	13527	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious(0.01)	.	VATD_HUMAN	ATP6V1D	HGNC	H0YJH8_HUMAN,G3V5S7_HUMAN,G3V341_HUMAN,G3V2S6_HUMAN	.	UPI000013818E	SNV	ATP6V1D,missense_variant,p.Phe191Leu,ENST00000555431,;ATP6V1D,missense_variant,p.Phe147Leu,ENST00000555474,;ATP6V1D,missense_variant,p.Phe246Leu,ENST00000216442,;ATP6V1D,3_prime_UTR_variant,,ENST00000555723,;ATP6V1D,3_prime_UTR_variant,,ENST00000554236,;ATP6V1D,intron_variant,,ENST00000553408,;MPP5,downstream_gene_variant,,ENST00000555925,;MPP5,downstream_gene_variant,,ENST00000261681,;Y_RNA,upstream_gene_variant,,ENST00000362885,;ATP6V1D,upstream_gene_variant,,ENST00000553974,;ATP6V1D,missense_variant,p.Phe152Leu,ENST00000555625,;ATP6V1D,missense_variant,p.Phe246Leu,ENST00000554087,;ATP6V1D,downstream_gene_variant,,ENST00000556058,;	1287	91	48	SUCCESS
C15orf59	0	.	GRCh37	15	74043526	74043526	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	30	0	ENST00000569673.1:c.-55C>A		p.*19*	ENST00000569673				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32289.1	.	MUTECT|MUSE	.	ACACTGCGTCT	NONE	.	.	.	.	.	ENSP00000457205	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000569673	Transcript	.	.	ENSG00000205363	33753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO059_HUMAN	C15orf59	HGNC	H0YKG6_HUMAN	.	UPI00001D778D	SNV	C15orf59,5_prime_UTR_variant,,ENST00000379822,;C15orf59,5_prime_UTR_variant,,ENST00000569673,;C15orf59,intron_variant,,ENST00000559817,;	1151	30	23	SUCCESS
ERCC4	2072	.	GRCh37	16	14041908	14041908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	88	0	ENST00000311895.7:c.2455A>G	p.Ser819Gly	p.S819G	ENST00000311895	NM_005236.2	819	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS32390.1	2455	RADIA|MUTECT|MUSE	.	AACAAAGCAAG	NONE	.	.	hmmpanther:PTHR10150,Gene3D:1j23A00,TIGRFAM_domain:TIGR00596	.	.	ENSP00000310520	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000311895	Transcript	.	.	ENSG00000175595	3436	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	XPF_HUMAN	ERCC4	HGNC	B4DXD8_HUMAN	.	UPI0000161BBF	SNV	ERCC4,missense_variant,p.Ser819Gly,ENST00000311895,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;ERCC4,downstream_gene_variant,,ENST00000462862,;	2464	88	90	SUCCESS
TCF25	22980	.	GRCh37	16	89967154	89967154	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	32	55	0	ENST00000263346.8:c.1333C>T	p.Gln445Ter	p.Q445*	ENST00000263346	NM_014972.2	445	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS10987.1	1333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCAGAAG	NONE	.	.	hmmpanther:PTHR22684:SF0,hmmpanther:PTHR22684,Pfam_domain:PF04910	.	.	ENSP00000263346	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000263346	Transcript	.	.	ENSG00000141002	29181	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF25_HUMAN	TCF25	HGNC	.	.	UPI000012A80B	SNV	TCF25,stop_gained,p.Gln90Ter,ENST00000562193,;TCF25,stop_gained,p.Gln210Ter,ENST00000263347,;TCF25,stop_gained,p.Gln249Ter,ENST00000568409,;TCF25,stop_gained,p.Gln445Ter,ENST00000263346,;TCF25,stop_gained,p.Gln307Ter,ENST00000562256,;TCF25,downstream_gene_variant,,ENST00000568412,;TCF25,non_coding_transcript_exon_variant,,ENST00000563636,;TCF25,non_coding_transcript_exon_variant,,ENST00000562184,;TCF25,non_coding_transcript_exon_variant,,ENST00000570116,;TCF25,upstream_gene_variant,,ENST00000563484,;TCF25,downstream_gene_variant,,ENST00000566158,;	1389	55	38	SUCCESS
SPECC1	92521	.	GRCh37	17	20013852	20013852	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757526242	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	73	137	0	ENST00000261503.5:c.260A>G	p.Glu87Gly	p.E87G	ENST00000261503	NM_001033553.2	87	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32590.1	260	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGAGAGCC	NONE	byFrequency	.	hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167	.	.	ENSP00000261503	.	3/15	.	.	.	.	.	.	.	.	rs757526242	3/15	PASS	ENST00000261503	Transcript	.	.	ENSG00000128487	30615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CYTSB_HUMAN	SPECC1	HGNC	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN	.	UPI000020187D	SNV	SPECC1,missense_variant,p.Glu87Gly,ENST00000395527,;SPECC1,missense_variant,p.Glu87Gly,ENST00000581973,;SPECC1,missense_variant,p.Glu87Gly,ENST00000395529,;SPECC1,missense_variant,p.Glu87Gly,ENST00000261503,;SPECC1,missense_variant,p.Glu87Gly,ENST00000583482,;SPECC1,missense_variant,p.Glu87Gly,ENST00000583463,;SPECC1,downstream_gene_variant,,ENST00000580934,;SPECC1,downstream_gene_variant,,ENST00000583528,;SPECC1,non_coding_transcript_exon_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000472876,;KCTD9P1,upstream_gene_variant,,ENST00000430462,;	311	137	165	SUCCESS
FAM20A	54757	.	GRCh37	17	66538937	66538937	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs387907215	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	55	0	ENST00000592554.1:c.826del	p.Arg276AspfsTer10	p.R276Dfs*10	ENST00000592554	NM_001243746.1	276	Cga/ga	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS11679.1	826	INDELOCATOR*|VARSCANI*|PINDEL	pathogenic	CCCGTCGGAAGT	NONE	.	.	hmmpanther:PTHR12450:SF12,hmmpanther:PTHR12450	.	.	ENSP00000468308	.	6/11	.	.	.	.	.	.	.	.	rs387907215	6/11	PASS	ENST00000592554	Transcript	.	.	ENSG00000108950	23015	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	.	FA20A_HUMAN	FAM20A	HGNC	L8B8N7_HUMAN	.	UPI00001AE65B	deletion	FAM20A,frameshift_variant,p.Arg276AspfsTer10,ENST00000592554,;PRKAR1A,intron_variant,,ENST00000588188,;AC079210.1,upstream_gene_variant,,ENST00000600820,;FAM20A,non_coding_transcript_exon_variant,,ENST00000226094,;FAM20A,non_coding_transcript_exon_variant,,ENST00000592847,;FAM20A,3_prime_UTR_variant,,ENST00000590074,;FAM20A,intron_variant,,ENST00000590873,;FAM20A,upstream_gene_variant,,ENST00000375556,;	1549	55	93	SUCCESS
TP53	7157	.	GRCh37	17	7578260	7578260	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs786204041	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	66	158	0	ENST00000269305.4:c.589G>T	p.Val197Leu	p.V197L	ENST00000269305	NM_001126112.2	197	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS11118.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTCGGA	SITE|p.V197L|c.589G>T|3,SITE|p.V65L|c.193G>T|3,SITE|p.V197L|c.589G>T|5,SITE|p.V104L|c.310G>T|3,SITE|p.V197L|c.589G>T|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.A189_V197delAPPQHLIRV|c.565_591del27|4,CODON|p.V197G|c.590T>G|15,CODON|p.V197E|c.590T>A|8,BUFFER|p.N200fs*47|c.598delA|5,BUFFER|p.G199V|c.596G>T|10,BUFFER|p.G106V|c.317G>T|6,BUFFER|p.G67V|c.200G>T|6,BUFFER|p.G199V|c.596G>T|6,BUFFER|p.G199V|c.596G>T|6,BUFFER|p.G199E|c.596G>A|11,BUFFER|p.G199*|c.595G>T|5,BUFFER|p.G199R|c.595G>A|9,BUFFER|p.E198*|c.592G>T|5,BUFFER|p.E198K|c.592G>A|5,BUFFER|p.E198*|c.592G>T|4,BUFFER|p.E105*|c.313G>T|9,BUFFER|p.E198*|c.592G>T|27,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.E66*|c.196G>T|9,BUFFER|p.E198*|c.592G>T|9,BUFFER|p.V197M|c.589G>A|12,BUFFER|p.R196R|c.588A>G|4,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R196P|c.587G>C|18,BUFFER|p.R64P|c.191G>C|7,BUFFER|p.R196Q|c.587G>A|4,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196P|c.587G>C|6,BUFFER|p.R103P|c.308G>C|7,BUFFER|p.R196P|c.587G>C|3,BUFFER|p.R196*|c.585_586CC>TT|7,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R64fs*>27|c.190delC|3,BUFFER|p.R196fs*51|c.586delC|3,BUFFER|p.R103fs*51|c.307delC|3,BUFFER|p.R196fs*51|c.586delC|7,BUFFER|p.R64*|c.190C>T|65,BUFFER|p.R196*|c.586C>T|45,BUFFER|p.R196*|c.586C>T|33,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R196*|c.586C>T|64,BUFFER|p.R103*|c.307C>T|64,BUFFER|p.R196*|c.586C>T|180,BUFFER|p.I102N|c.305T>A|10,BUFFER|p.I102T|c.305T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I63S|c.188T>G|3,BUFFER|p.I195T|c.584T>C|88,BUFFER|p.I195N|c.584T>A|4,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I63N|c.188T>A|10,BUFFER|p.I195T|c.584T>C|12,BUFFER|p.I63T|c.188T>C|21,BUFFER|p.I195T|c.584T>C|21,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195N|c.584T>A|23,BUFFER|p.I195T|c.584T>C|10,BUFFER|p.I195N|c.584T>A|10,BUFFER|p.I195S|c.584T>G|7,BUFFER|p.I195F|c.583A>T|6,BUFFER|p.I195F|c.583A>T|28,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.I63F|c.187A>T|9,BUFFER|p.I102F|c.304A>T|9,BUFFER|p.I195F|c.583A>T|5,BUFFER|p.I195F|c.583A>T|9,BUFFER|p.L194L|c.582T>C|3,BUFFER|p.L62R|c.185T>G|17,BUFFER|p.L194R|c.581T>G|50,BUFFER|p.L194R|c.581T>G|11,BUFFER|p.L194H|c.581T>A|6,BUFFER|p.L194P|c.581T>C|9,BUFFER|p.L101R|c.302T>G|17,BUFFER|p.L194R|c.581T>G|9,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194R|c.581T>G|17,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|3,BUFFER|p.L194F|c.580C>T|19,BUFFER|p.L101F|c.301C>T|3,BUFFER|p.L62F|c.184C>T|3,BUFFER|p.H193fs*16|c.577_578insN|3,BUFFER|p.H193R|c.578A>G|8,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|89,BUFFER|p.H61P|c.182A>C|4,BUFFER|p.H100L|c.299A>T|8,BUFFER|p.H61R|c.182A>G|23,BUFFER|p.H193R|c.578A>G|21,BUFFER|p.H193L|c.578A>T|8,BUFFER|p.H193R|c.578A>G|22,BUFFER|p.H100R|c.299A>G|22,BUFFER|p.H100P|c.299A>C|4,BUFFER|p.H193P|c.578A>C|4,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193L|c.578A>T|3,BUFFER|p.H193P|c.578A>C|16,BUFFER|p.H193R|c.578A>G|5,BUFFER|p.H193P|c.578A>C|3,BUFFER|p.H193L|c.578A>T|37,BUFFER|p.H61L|c.182A>T|10	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	CM070297,TP53_g.12658G>A,TP53_g.12658G>C,TP53_g.12658G>T,COSM43779,COSM46212,COSM45265,COSM307272,COSM3712578,COSM307271,COSM3712581,COSM307273,COSM3712583,COSM3712580,COSM3712579,COSM1645189,COSM307274,COSM3712582	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Val197Leu,ENST00000413465,;TP53,missense_variant,p.Val197Leu,ENST00000420246,;TP53,missense_variant,p.Val197Leu,ENST00000269305,;TP53,missense_variant,p.Val65Leu,ENST00000509690,;TP53,missense_variant,p.Val197Leu,ENST00000359597,;TP53,missense_variant,p.Val104Leu,ENST00000514944,;TP53,missense_variant,p.Val197Leu,ENST00000445888,;TP53,missense_variant,p.Val197Leu,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	779	158	84	SUCCESS
ODF4	146852	.	GRCh37	17	8243727	8243727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	52	0	ENST00000328248.2:c.358G>T	p.Val120Phe	p.V120F	ENST00000328248	NM_153007.4	120	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS11140.1	358	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGTCAGC	NONE	.	.	hmmpanther:PTHR10671:SF24,hmmpanther:PTHR10671	.	.	ENSP00000331086	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000328248	Transcript	.	.	ENSG00000184650	19056	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	ODFP4_HUMAN	ODF4	HGNC	.	.	UPI000013F20D	SNV	ODF4,missense_variant,p.Val120Phe,ENST00000328248,;ODF4,intron_variant,,ENST00000584943,;RP11-849F2.4,downstream_gene_variant,,ENST00000585275,;	546	52	36	SUCCESS
TMEM161A	54929	.	GRCh37	19	19230836	19230836	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765826379	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	96	239	0	ENST00000162044.9:c.1343G>A	p.Arg448His	p.R448H	ENST00000162044	NM_017814.2	448	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12393.1	1343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCACGGAGG	NONE	.	.	Pfam_domain:PF10268,hmmpanther:PTHR13624:SF4,hmmpanther:PTHR13624	.	.	ENSP00000162044	.	12/12	.	.	.	.	.	.	.	.	rs765826379	12/12	PASS	ENST00000162044	Transcript	.	.	ENSG00000064545	26020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	T161A_HUMAN	TMEM161A	HGNC	K7EQE7_HUMAN,K7EQ34_HUMAN	.	UPI00000373EF	SNV	TMEM161A,missense_variant,p.Arg448His,ENST00000162044,;TMEM161A,missense_variant,p.Arg423His,ENST00000587583,;TMEM161A,missense_variant,p.Arg345His,ENST00000450333,;TMEM161A,downstream_gene_variant,,ENST00000587925,;TMEM161A,downstream_gene_variant,,ENST00000587096,;TMEM161A,3_prime_UTR_variant,,ENST00000587985,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000587406,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000589448,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000591443,;TMEM161A,downstream_gene_variant,,ENST00000590216,;TMEM161A,downstream_gene_variant,,ENST00000591031,;	1408	239	251	SUCCESS
C19orf71	100128569	.	GRCh37	19	3542780	3542780	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	62	1	ENST00000329493.5:c.84-453T>A		p.*28*	ENST00000329493	NM_001135580.1	539		0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS42464.1	1616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTAGTGG	NONE	.	.	.	.	.	ENSP00000381566	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000398558	Transcript	.	.	ENSG00000161091	28299	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFS12_HUMAN	MFSD12	HGNC	.	.	UPI0000DBE357	SNV	MFSD12,stop_lost,p.Ter539LeuextTer16,ENST00000398558,;C19orf71,intron_variant,,ENST00000329493,;MFSD12,intron_variant,,ENST00000389395,;MFSD12,downstream_gene_variant,,ENST00000355415,;MFSD12,downstream_gene_variant,,ENST00000592652,;MFSD12,downstream_gene_variant,,ENST00000589995,;MFSD12,downstream_gene_variant,,ENST00000589063,;FZR1,downstream_gene_variant,,ENST00000441788,;AC005786.7,upstream_gene_variant,,ENST00000589360,;MFSD12,non_coding_transcript_exon_variant,,ENST00000589157,;MFSD12,downstream_gene_variant,,ENST00000588918,;MFSD12,upstream_gene_variant,,ENST00000585788,;MFSD12,downstream_gene_variant,,ENST00000585814,;	1616	63	49	SUCCESS
FCAR	2204	.	GRCh37	19	55385744	55385744	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs773500089	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	8	107	0	ENST00000355524.3:c.-2C>T		p.*1*	ENST00000355524	NM_002000.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12907.1	.	MUTECT|MUSE	.	CAGCACGATGG	NONE	byFrequency	.	.	.	.	ENSP00000347714	.	1/5	.	.	.	.	.	.	.	.	rs773500089	1/5	PASS	ENST00000355524	Transcript	.	.	ENSG00000186431	3608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FCAR_HUMAN	FCAR	HGNC	A5Y2F0_HUMAN	.	UPI000011B429	SNV	FCAR,5_prime_UTR_variant,,ENST00000345937,;FCAR,5_prime_UTR_variant,,ENST00000355524,;FCAR,5_prime_UTR_variant,,ENST00000469767,;FCAR,5_prime_UTR_variant,,ENST00000391726,;FCAR,5_prime_UTR_variant,,ENST00000391725,;FCAR,upstream_gene_variant,,ENST00000353758,;FCAR,upstream_gene_variant,,ENST00000391724,;FCAR,upstream_gene_variant,,ENST00000359272,;FCAR,upstream_gene_variant,,ENST00000391723,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,upstream_gene_variant,,ENST00000482092,;FCAR,upstream_gene_variant,,ENST00000471750,;FCAR,5_prime_UTR_variant,,ENST00000488066,;	9	107	142	SUCCESS
ZIM2	23619	.	GRCh37	19	57286077	57286077	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	91	0	ENST00000593711.1:c.1563T>C	p.Thr521=	p.T521=	ENST00000593711		521	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS33123.1	1563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACAGTTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF110,hmmpanther:PTHR24377,Superfamily_domains:SSF57667	.	.	ENSP00000375589	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000391708	Transcript	.	.	ENSG00000269699	12875	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZIM2_HUMAN	ZIM2	HGNC	.	.	UPI000013C3DF	SNV	ZIM2,synonymous_variant,p.%3D,ENST00000221722,;ZIM2,synonymous_variant,p.%3D,ENST00000601070,;ZIM2,synonymous_variant,p.%3D,ENST00000593711,;ZIM2,synonymous_variant,p.%3D,ENST00000599935,;ZIM2,synonymous_variant,p.%3D,ENST00000391708,;AC006115.3,intron_variant,,ENST00000597946,;AC006115.3,intron_variant,,ENST00000595954,;AC006115.3,intron_variant,,ENST00000594400,;ZIM2,3_prime_UTR_variant,,ENST00000597281,;ZIM2,3_prime_UTR_variant,,ENST00000595671,;ZIM2,downstream_gene_variant,,ENST00000596270,;	2106	91	115	SUCCESS
UBE4B	10277	.	GRCh37	1	10211424	10211424	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	78	134	0	ENST00000343090.6:c.2731A>G	p.Ile911Val	p.I911V	ENST00000343090	NM_001105562.2	911	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS41245.1	2731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATATTGTG	NONE	.	.	hmmpanther:PTHR13931:SF13,hmmpanther:PTHR13931,Pfam_domain:PF10408	.	.	ENSP00000343001	.	21/28	.	.	.	.	.	.	.	.	.	21/28	PASS	ENST00000343090	Transcript	.	.	ENSG00000130939	12500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.11)	.	UBE4B_HUMAN	UBE4B	HGNC	.	.	UPI0000137944	SNV	UBE4B,missense_variant,p.Ile666Val,ENST00000377157,;UBE4B,missense_variant,p.Ile782Val,ENST00000253251,;UBE4B,missense_variant,p.Ile911Val,ENST00000343090,;	2806	134	89	SUCCESS
C1orf51	0	.	GRCh37	1	150255908	150255908	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	134	145	0	ENST00000290363.5:c.231A>G	p.Pro77=	p.P77=	ENST00000290363	NM_144697.2	77	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS949.1	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCATCTCA	NONE	.	.	.	.	.	ENSP00000290363	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000290363	Transcript	.	.	ENSG00000159208	25200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA051_HUMAN	C1orf51	HGNC	Q5TB14_HUMAN,Q5TB13_HUMAN,Q5TB12_HUMAN	.	UPI000000DBBF	SNV	C1orf51,synonymous_variant,p.%3D,ENST00000369095,;C1orf51,synonymous_variant,p.%3D,ENST00000290363,;C1orf51,5_prime_UTR_variant,,ENST00000369094,;C1orf51,5_prime_UTR_variant,,ENST00000417398,;C1orf51,intron_variant,,ENST00000447007,;C1orf54,downstream_gene_variant,,ENST00000369099,;C1orf54,downstream_gene_variant,,ENST00000369098,;C1orf54,downstream_gene_variant,,ENST00000369102,;C1orf51,non_coding_transcript_exon_variant,,ENST00000469255,;C1orf51,upstream_gene_variant,,ENST00000497211,;	680	145	288	SUCCESS
GON4L	54856	.	GRCh37	1	155735915	155735915	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757049684	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	258	14	131	0	ENST00000368331.1:c.3349C>T	p.Arg1117Trp	p.R1117W	ENST00000368331	NM_001037533.1	1117	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44242.1	3349	MUTECT|MUSE	.	TCTCCGTCTCA	NONE	byFrequency	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF10	.	.	ENSP00000396117	.	21/32	.	.	.	.	.	.	.	.	rs757049684	21/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	tolerated_low_confidence(0.05)	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,missense_variant,p.Arg1117Trp,ENST00000437809,;GON4L,missense_variant,p.Arg1117Trp,ENST00000361040,;GON4L,missense_variant,p.Arg1117Trp,ENST00000368331,;GON4L,missense_variant,p.Arg1117Trp,ENST00000271883,;GON4L,non_coding_transcript_exon_variant,,ENST00000497369,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,downstream_gene_variant,,ENST00000496021,;GON4L,downstream_gene_variant,,ENST00000490801,;	3472	131	272	SUCCESS
ETV3	2117	.	GRCh37	1	157095415	157095415	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	255	68	182	0	ENST00000368192.4:c.757C>T	p.Pro253Ser	p.P253S	ENST00000368192	NM_001145312.1	253	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS44250.1	757	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGGATTG	NONE	.	.	hmmpanther:PTHR11849:SF30,hmmpanther:PTHR11849	.	.	ENSP00000357175	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000368192	Transcript	.	.	ENSG00000117036	3492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	deleterious(0)	.	ETV3_HUMAN	ETV3	HGNC	.	.	UPI0000071047	SNV	ETV3,missense_variant,p.Pro253Ser,ENST00000368192,;CYCSP52,upstream_gene_variant,,ENST00000422857,;	822	182	324	SUCCESS
SPTA1	6708	.	GRCh37	1	158607950	158607950	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	27	81	0	ENST00000368147.4:c.5062A>C	p.Lys1688Gln	p.K1688Q	ENST00000368147	NM_003126.2	1688	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS41423.1	5062	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTTTTTCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	36/52	.	.	.	.	.	.	.	.	.	36/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.13)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Lys1688Gln,ENST00000368147,;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	5243	81	114	SUCCESS
CACNA1E	777	.	GRCh37	1	181754899	181754899	+	synonymous_variant	Silent	SNP	G	G	A	rs1360170031	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	92	181	0	ENST00000367573.2:c.5730G>A	p.Glu1910=	p.E1910=	ENST00000367573	NM_001205293.1	1910	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS55664.1	5730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGATCAT	NONE	.	.	hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	43/48	.	.	.	.	.	.	.	.	COSM900583	43/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,synonymous_variant,p.%3D,ENST00000358338,;CACNA1E,synonymous_variant,p.%3D,ENST00000367567,;CACNA1E,synonymous_variant,p.%3D,ENST00000357570,;CACNA1E,synonymous_variant,p.%3D,ENST00000360108,;CACNA1E,synonymous_variant,p.%3D,ENST00000526775,;CACNA1E,synonymous_variant,p.%3D,ENST00000367573,;CACNA1E,synonymous_variant,p.%3D,ENST00000367570,;	5730	181	330	SUCCESS
KIF17	57576	.	GRCh37	1	21031226	21031226	+	synonymous_variant	Silent	SNP	G	G	A	rs142802323	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	41	65	0	ENST00000247986.2:c.837C>T	p.Asp279=	p.D279=	ENST00000247986		279	gaC/gaT	0	A:0.0007	A:0.0023	.	A:0	.	A	D	protein_coding	YES	CCDS213.1	837	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGTCCAC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	A:0	A:0	ENSP00000247986	A:0	5/15	.	.	.	.	.	.	.	.	rs142802323	5/15	PASS	ENST00000247986	Transcript	.	A:0.0006	ENSG00000117245	19167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	KIF17_HUMAN	KIF17	HGNC	.	.	UPI0000185F1A	SNV	KIF17,synonymous_variant,p.%3D,ENST00000247986,;KIF17,synonymous_variant,p.%3D,ENST00000400463,;KIF17,synonymous_variant,p.%3D,ENST00000375044,;	1148	65	44	SUCCESS
EFCAB14	9813	.	GRCh37	1	47150244	47150244	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	33	65	0	ENST00000371933.3:c.1105A>G	p.Lys369Glu	p.K369E	ENST00000371933	NM_014774.2	369	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS30706.1	1105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTTGGATA	NONE	.	.	hmmpanther:PTHR15717,hmmpanther:PTHR15717:SF2	.	.	ENSP00000361001	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000371933	Transcript	.	.	ENSG00000159658	29051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.26)	.	EFC14_HUMAN	EFCAB14	HGNC	.	.	UPI000003B443	SNV	EFCAB14,missense_variant,p.Lys305Glu,ENST00000544071,;EFCAB14,missense_variant,p.Lys369Glu,ENST00000371933,;EFCAB14-AS1,intron_variant,,ENST00000442839,;EFCAB14-AS1,intron_variant,,ENST00000418985,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000484461,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000479745,;EFCAB14,upstream_gene_variant,,ENST00000459797,;EFCAB14,3_prime_UTR_variant,,ENST00000487741,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000481623,;	2082	65	45	SUCCESS
HSPA13	6782	.	GRCh37	21	15750651	15750651	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	46	83	0	ENST00000285667.3:c.449G>C	p.Arg150Pro	p.R150P	ENST00000285667	NM_006948.4	150	cGa/cCa	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS13567.1	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGTCGAGAG	NONE	.	.	hmmpanther:PTHR19375:SF169,hmmpanther:PTHR19375,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000285667	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000285667	Transcript	.	.	ENSG00000155304	11375	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	tolerated(0.1)	.	HSP13_HUMAN	HSPA13	HGNC	F5GWS8_HUMAN	.	UPI00001360C2	SNV	HSPA13,missense_variant,p.Arg150Pro,ENST00000285667,;HSPA13,intron_variant,,ENST00000544452,;HSPA13,downstream_gene_variant,,ENST00000478035,;	517	83	139	SUCCESS
CHKB	1120	.	GRCh37	22	51020217	51020217	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	100	183	0	ENST00000406938.2:c.408C>G	p.Tyr136Ter	p.Y136*	ENST00000406938	NM_005198.4	136	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS14099.1	408	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCGTACAG	NONE	.	.	hmmpanther:PTHR22603:SF28,hmmpanther:PTHR22603,Gene3D:3.10.450.110,Pfam_domain:PF01633,Superfamily_domains:SSF56112	.	.	ENSP00000384400	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000406938	Transcript	.	.	ENSG00000100288	1938	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHKB_HUMAN	CHKB	HGNC	H3BT56_HUMAN	.	UPI000012DE4D	SNV	CHKB,stop_gained,p.Tyr136Ter,ENST00000406938,;CPT1B,upstream_gene_variant,,ENST00000312108,;CPT1B,upstream_gene_variant,,ENST00000417176,;CPT1B,upstream_gene_variant,,ENST00000360719,;CPT1B,upstream_gene_variant,,ENST00000395650,;CPT1B,upstream_gene_variant,,ENST00000434492,;CPT1B,upstream_gene_variant,,ENST00000457250,;CPT1B,upstream_gene_variant,,ENST00000405237,;CPT1B,upstream_gene_variant,,ENST00000440709,;CHKB-AS1,upstream_gene_variant,,ENST00000380711,;CHKB,non_coding_transcript_exon_variant,,ENST00000463053,;CHKB,upstream_gene_variant,,ENST00000464225,;CHKB-CPT1B,upstream_gene_variant,,ENST00000452668,;CHKB,upstream_gene_variant,,ENST00000471515,;CHKB,non_coding_transcript_exon_variant,,ENST00000476289,;CHKB,non_coding_transcript_exon_variant,,ENST00000492582,;CHKB,non_coding_transcript_exon_variant,,ENST00000481673,;CHKB-CPT1B,non_coding_transcript_exon_variant,,ENST00000492556,;CHKB,non_coding_transcript_exon_variant,,ENST00000468532,;CHKB,non_coding_transcript_exon_variant,,ENST00000479003,;CHKB,non_coding_transcript_exon_variant,,ENST00000465842,;CHKB,intron_variant,,ENST00000484266,;CPT1B,upstream_gene_variant,,ENST00000476790,;CPT1B,upstream_gene_variant,,ENST00000460853,;CHKB-CPT1B,upstream_gene_variant,,ENST00000453634,;CPT1B,upstream_gene_variant,,ENST00000461117,;CHKB,upstream_gene_variant,,ENST00000489453,;	626	183	217	SUCCESS
CCDC74B	91409	.	GRCh37	2	130899798	130899798	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138883979	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	30	141	0	ENST00000310463.6:c.452G>A	p.Arg151His	p.R151H	ENST00000310463	NM_207310.2	151	cGt/cAt	0	T:0.0117	T:0.034	.	T:0.0014	.	T	R/H	protein_coding	YES	CCDS2155.1	452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGACGCCCA	BUFFER|p.H149R|c.446A>G|5,BUFFER|p.H251R|c.752A>G|5	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000308873	T:0	3/8	.	.	.	.	.	.	.	.	rs138883979	3/8	common_in_exac	ENST00000310463	Transcript	.	T:0.0092	ENSG00000152076	25267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0	tolerated(0.16)	.	CC74B_HUMAN	CCDC74B	HGNC	.	.	UPI000006D822	SNV	CCDC74B,missense_variant,p.Arg193His,ENST00000457413,;CCDC74B,missense_variant,p.Arg253His,ENST00000392984,;CCDC74B,missense_variant,p.Arg151His,ENST00000310463,;CCDC74B,intron_variant,,ENST00000409943,;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,3_prime_UTR_variant,,ENST00000434929,;CCDC74B,3_prime_UTR_variant,,ENST00000423263,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;	590	141	127	SUCCESS
TUBA3D	113457	.	GRCh37	2	132238155	132238155	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	26	126	0	ENST00000321253.6:c.889G>A	p.Glu297Lys	p.E297K	ENST00000321253	NM_080386.3	297	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS33290.1	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGAGCCA	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307	.	.	ENSP00000326042	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000321253	Transcript	.	.	ENSG00000075886	24071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.296)	.	deleterious_low_confidence(0)	.	TBA3C_HUMAN	TUBA3D	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3D,missense_variant,p.Glu297Lys,ENST00000321253,;MZT2A,downstream_gene_variant,,ENST00000309451,;MZT2A,downstream_gene_variant,,ENST00000410036,;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	996	126	92	SUCCESS
LY75	4065	.	GRCh37	2	160697286	160697286	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147091910	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	102	0	ENST00000263636.4:c.3461C>T	p.Ala1154Val	p.A1154V	ENST00000263636	NM_002349.3	1154	gCg/gTg	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS56141.1	3461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCCTGC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	A:0.001	ENSP00000423463	.	25/39	.	.	.	.	.	.	.	.	rs147091910	25/39	common_in_exac	ENST00000504764	Transcript	.	.	ENSG00000248672	38828	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.53)	.	.	LY75-CD302	HGNC	.	.	UPI00018817E3	SNV	LY75-CD302,missense_variant,p.Ala1154Val,ENST00000504764,;LY75,missense_variant,p.Ala1154Val,ENST00000553424,;LY75,missense_variant,p.Ala1154Val,ENST00000554112,;LY75,missense_variant,p.Ala1154Val,ENST00000263636,;LY75-CD302,missense_variant,p.Ala1154Val,ENST00000505052,;	3489	102	59	SUCCESS
FIGN	55137	.	GRCh37	2	164466190	164466190	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	69	0	ENST00000333129.3:c.2152C>A	p.Pro718Thr	p.P718T	ENST00000333129	NM_018086.2	718	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2221.2	2152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGGCATAA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:1.10.8.60,hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	.	.	ENSP00000333836	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333129	Transcript	.	.	ENSG00000182263	13285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.1)	.	FIGN_HUMAN	FIGN	HGNC	.	.	UPI000022BD13	SNV	FIGN,missense_variant,p.Pro718Thr,ENST00000333129,;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	2467	69	65	SUCCESS
GORASP2	26003	.	GRCh37	2	171804921	171804921	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	76	0	ENST00000234160.4:c.125C>T	p.Ser42Phe	p.S42F	ENST00000234160	NM_015530.4	42	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS33325.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCTATTA	NONE	.	.	hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000234160	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000234160	Transcript	.	.	ENSG00000115806	17500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	deleterious(0)	.	GORS2_HUMAN	GORASP2	HGNC	B4DQF1_HUMAN	.	UPI000007373B	SNV	GORASP2,missense_variant,p.Ser54Phe,ENST00000452526,;GORASP2,missense_variant,p.Ser42Phe,ENST00000234160,;GORASP2,non_coding_transcript_exon_variant,,ENST00000493692,;GORASP2,non_coding_transcript_exon_variant,,ENST00000497928,;GORASP2,non_coding_transcript_exon_variant,,ENST00000471559,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,3_prime_UTR_variant,,ENST00000454751,;GORASP2,3_prime_UTR_variant,,ENST00000455067,;GORASP2,non_coding_transcript_exon_variant,,ENST00000497674,;GORASP2,intron_variant,,ENST00000444801,;GORASP2,upstream_gene_variant,,ENST00000488928,;	940	76	55	SUCCESS
CCDC141	285025	.	GRCh37	2	179736264	179736264	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	34	105	0	ENST00000420890.2:c.2095A>T	p.Lys699Ter	p.K699*	ENST00000420890	NM_173648.3	699	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	.	2095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTTAAGT	NONE	.	.	hmmpanther:PTHR19897	.	.	ENSP00000395995	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000420890	Transcript	.	.	ENSG00000163492	26821	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CCDC141	HGNC	H7C0P1_HUMAN,E7ERF0_HUMAN	.	UPI0000EE2F1C	SNV	CCDC141,stop_gained,p.Lys699Ter,ENST00000420890,;CCDC141,stop_gained,p.Lys699Ter,ENST00000443758,;CCDC141,stop_gained,p.Lys143Ter,ENST00000343876,;CCDC141,stop_gained,p.Lys124Ter,ENST00000295723,;CCDC141,downstream_gene_variant,,ENST00000409284,;CCDC141,downstream_gene_variant,,ENST00000446116,;	2213	105	67	SUCCESS
CWC22	57703	.	GRCh37	2	180810422	180810422	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	21	0	ENST00000410053.3:c.2161G>C	p.Gly721Arg	p.G721R	ENST00000410053	NM_020943.2	721	Gga/Cga	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS46465.1	2161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCCCTTCT	NONE	.	.	hmmpanther:PTHR18034:SF3,hmmpanther:PTHR18034	.	.	ENSP00000387006	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000410053	Transcript	.	.	ENSG00000163510	29322	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.8)	.	CWC22_HUMAN	CWC22	HGNC	B7WP74_HUMAN	.	UPI00001C1DAE	SNV	CWC22,missense_variant,p.Gly721Arg,ENST00000404136,;CWC22,missense_variant,p.Gly721Arg,ENST00000410053,;CWC22,missense_variant,p.Gly721Arg,ENST00000295749,;	2461	21	15	SUCCESS
COL5A2	1290	.	GRCh37	2	189898929	189898929	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	75	0	ENST00000374866.3:c.4367A>G	p.Asn1456Ser	p.N1456S	ENST00000374866	NM_000393.3	1456	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS33350.1	4367	MUTECT|MUSE	.	CCACATTTCCA	NONE	.	.	SMART_domains:SM00038,Pfam_domain:PF01410,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,PROSITE_profiles:PS51461	.	.	ENSP00000364000	.	54/54	.	.	.	.	.	.	.	.	.	54/54	PASS	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,missense_variant,p.Asn1456Ser,ENST00000374866,;	4642	75	56	SUCCESS
NCOA1	8648	.	GRCh37	2	24930641	24930641	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	105	358	0	ENST00000348332.3:c.2302C>G	p.Leu768Val	p.L768V	ENST00000348332	NM_147233.2	768	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS1712.1	2302	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCCTGGAT	NONE	.	.	hmmpanther:PTHR10684:SF1,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000385216	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000406961	Transcript	.	.	ENSG00000084676	7668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.04)	.	NCOA1_HUMAN	NCOA1	HGNC	.	.	UPI000006E1F7	SNV	NCOA1,missense_variant,p.Leu768Val,ENST00000348332,;NCOA1,missense_variant,p.Leu617Val,ENST00000407230,;NCOA1,missense_variant,p.Leu768Val,ENST00000288599,;NCOA1,missense_variant,p.Leu768Val,ENST00000406961,;NCOA1,missense_variant,p.Leu768Val,ENST00000395856,;NCOA1,missense_variant,p.Leu768Val,ENST00000538539,;NCOA1,missense_variant,p.Leu768Val,ENST00000405141,;NCOA1,non_coding_transcript_exon_variant,,ENST00000486198,;	2954	358	279	SUCCESS
NCEH1	57552	.	GRCh37	3	172351356	172351356	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1396124353	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	49	134	0	ENST00000538775.1:c.1256G>A	p.Gly419Glu	p.G419E	ENST00000538775	NM_001146276.1	419	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS54682.1	1256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACATCCGTGA	NONE	.	.	Superfamily_domains:SSF53474,PIRSF_domain:PIRSF037251,Pfam_domain:PF07859,Gene3D:3.40.50.1820,hmmpanther:PTHR23024:SF108,hmmpanther:PTHR23024	.	.	ENSP00000442464	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538775	Transcript	.	.	ENSG00000144959	29260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	NCEH1	HGNC	F5H7K4_HUMAN	.	UPI000199A4B7	SNV	NCEH1,missense_variant,p.Gly246Glu,ENST00000543711,;NCEH1,missense_variant,p.Gly419Glu,ENST00000538775,;NCEH1,missense_variant,p.Gly379Glu,ENST00000475381,;NCEH1,missense_variant,p.Gly411Glu,ENST00000273512,;NCEH1,downstream_gene_variant,,ENST00000424772,;NCEH1,downstream_gene_variant,,ENST00000470419,;NCEH1,downstream_gene_variant,,ENST00000421723,;	1394	134	152	SUCCESS
OPA1	4976	.	GRCh37	3	193380662	193380662	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	116	285	0	ENST00000392438.3:c.2407G>T	p.Glu803Ter	p.E803*	ENST00000392438	NM_015560.2	803	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33917.1	2518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATGAGGAG	NONE	.	.	hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF12	.	.	ENSP00000354681	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,stop_gained,p.Glu822Ter,ENST00000361715,;OPA1,stop_gained,p.Glu821Ter,ENST00000361828,;OPA1,stop_gained,p.Glu803Ter,ENST00000392438,;OPA1,stop_gained,p.Glu858Ter,ENST00000361510,;OPA1,stop_gained,p.Glu804Ter,ENST00000361150,;OPA1,stop_gained,p.Glu840Ter,ENST00000361908,;OPA1,upstream_gene_variant,,ENST00000445863,;OPA1,upstream_gene_variant,,ENST00000429164,;OPA1,downstream_gene_variant,,ENST00000482865,;	2752	286	271	SUCCESS
OPA1	4976	.	GRCh37	3	193380663	193380663	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	119	284	0	ENST00000392438.3:c.2408A>T	p.Glu803Val	p.E803V	ENST00000392438	NM_015560.2	803	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33917.1	2519	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGAGGAGC	NONE	.	.	hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF12	.	.	ENSP00000354681	.	25/30	.	.	.	.	.	.	.	.	.	25/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.21)	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,missense_variant,p.Glu822Val,ENST00000361715,;OPA1,missense_variant,p.Glu821Val,ENST00000361828,;OPA1,missense_variant,p.Glu803Val,ENST00000392438,;OPA1,missense_variant,p.Glu858Val,ENST00000361510,;OPA1,missense_variant,p.Glu804Val,ENST00000361150,;OPA1,missense_variant,p.Glu840Val,ENST00000361908,;OPA1,upstream_gene_variant,,ENST00000445863,;OPA1,upstream_gene_variant,,ENST00000429164,;OPA1,downstream_gene_variant,,ENST00000482865,;	2753	284	273	SUCCESS
KCNH8	131096	.	GRCh37	3	19556821	19556821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373726349	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	56	0	ENST00000328405.2:c.2443G>A	p.Asp815Asn	p.D815N	ENST00000328405	NM_144633.2	815	Gat/Aat	0	A:0.0002	.	.	.	.	A	D/N	protein_coding	YES	CCDS2632.1	2443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGATGGA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	A:0	ENSP00000328813	.	14/16	.	.	.	.	.	.	.	.	rs373726349	14/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,missense_variant,p.Asp815Asn,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	2709	56	56	SUCCESS
HTR1F	3355	.	GRCh37	3	88040639	88040639	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	45	108	0	ENST00000319595.4:c.740T>A	p.Leu247Gln	p.L247Q	ENST00000319595	NM_000866.3	247	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS2920.1	740	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACTAGAAA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF34,hmmpanther:PTHR24247,Pfam_domain:PF00001,Prints_domain:PR00515	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.59)	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,missense_variant,p.Leu247Gln,ENST00000319595,;	794	108	51	SUCCESS
SLC9B2	133308	.	GRCh37	4	103987527	103987527	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	51	103	0	ENST00000362026.3:c.228G>A	p.Leu76=	p.L76=	ENST00000362026		76	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3662.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCCAGCAT	NONE	.	.	hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF6	.	.	ENSP00000378265	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000394785	Transcript	.	.	ENSG00000164038	25143	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9B2_HUMAN	SLC9B2	HGNC	D6RGJ7_HUMAN	.	UPI000020B27F	SNV	SLC9B2,synonymous_variant,p.%3D,ENST00000503103,;SLC9B2,synonymous_variant,p.%3D,ENST00000394785,;SLC9B2,synonymous_variant,p.%3D,ENST00000503818,;SLC9B2,synonymous_variant,p.%3D,ENST00000339611,;SLC9B2,synonymous_variant,p.%3D,ENST00000503230,;SLC9B2,synonymous_variant,p.%3D,ENST00000362026,;SLC9B2,non_coding_transcript_exon_variant,,ENST00000515424,;SLC9B2,non_coding_transcript_exon_variant,,ENST00000505838,;SLC9B2,downstream_gene_variant,,ENST00000508136,;	860	103	62	SUCCESS
PACRGL	133015	.	GRCh37	4	20706145	20706145	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	401	212	629	1	ENST00000471979.2:c.41A>T	p.Asn14Ile	p.N14I	ENST00000471979		14	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS58895.1	41	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAACAGAG	NONE	.	.	hmmpanther:PTHR21207:SF1,hmmpanther:PTHR21207	.	.	ENSP00000423881	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000503585	Transcript	.	.	ENSG00000163138	28442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious_low_confidence(0.01)	.	PACRL_HUMAN	PACRGL	HGNC	D6RF51_HUMAN,D6RF08_HUMAN,D6RDH3_HUMAN,D6RC13_HUMAN,D6RB63_HUMAN,D6R9D1_HUMAN	.	UPI00001405F2	SNV	PACRGL,missense_variant,p.Asn14Ile,ENST00000515339,;PACRGL,missense_variant,p.Asn14Ile,ENST00000503585,;PACRGL,missense_variant,p.Asn14Ile,ENST00000507634,;PACRGL,missense_variant,p.Asn14Ile,ENST00000514485,;PACRGL,missense_variant,p.Asn14Ile,ENST00000509469,;PACRGL,missense_variant,p.Asn14Ile,ENST00000444671,;PACRGL,missense_variant,p.Asn14Ile,ENST00000514292,;PACRGL,missense_variant,p.Asn14Ile,ENST00000513861,;PACRGL,missense_variant,p.Asn14Ile,ENST00000360916,;PACRGL,missense_variant,p.Asn14Ile,ENST00000502938,;PACRGL,missense_variant,p.Asn14Ile,ENST00000506745,;PACRGL,missense_variant,p.Asn14Ile,ENST00000513590,;PACRGL,missense_variant,p.Asn14Ile,ENST00000538990,;PACRGL,missense_variant,p.Asn14Ile,ENST00000511160,;PACRGL,missense_variant,p.Asn14Ile,ENST00000511089,;PACRGL,missense_variant,p.Asn14Ile,ENST00000295290,;PACRGL,missense_variant,p.Asn62Ile,ENST00000510051,;PACRGL,missense_variant,p.Asn14Ile,ENST00000514663,;PACRGL,missense_variant,p.Asn14Ile,ENST00000504630,;PACRGL,missense_variant,p.Asn14Ile,ENST00000502374,;PACRGL,missense_variant,p.Asn14Ile,ENST00000513459,;PACRGL,downstream_gene_variant,,ENST00000510700,;PACRGL,downstream_gene_variant,,ENST00000509625,;PACRGL,downstream_gene_variant,,ENST00000505160,;PACRGL,upstream_gene_variant,,ENST00000506457,;PACRGL,downstream_gene_variant,,ENST00000508753,;PACRGL,missense_variant,p.Asn14Ile,ENST00000503747,;PACRGL,missense_variant,p.Asn14Ile,ENST00000508952,;PACRGL,missense_variant,p.Asn14Ile,ENST00000506951,;PACRGL,missense_variant,p.Asn14Ile,ENST00000471979,;PACRGL,missense_variant,p.Asn14Ile,ENST00000506702,;PACRGL,missense_variant,p.Asn14Ile,ENST00000467997,;	432	630	613	SUCCESS
GBA3	57733	.	GRCh37	4	22820517	22820517	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs538670192	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	96	1	ENST00000508166.1:c.1381C>T	p.Arg461Ter	p.R461*	ENST00000508166	NM_020973.4	461	Cga/Tga	0	.	.	.	.	.	T	R/*	polymorphic_pseudogene	YES	.	1381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCGAAAC	NONE	byCluster	.	.	.	.	ENSP00000427458	.	5/5	.	.	.	.	.	.	.	.	rs538670192	5/5	PASS	ENST00000508166	Transcript	.	.	ENSG00000249948	19069	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GBA3	HGNC	.	.	.	SNV	GBA3,non_coding_transcript_exon_variant,,ENST00000508264,;GBA3,stop_gained,p.Arg154Ter,ENST00000503442,;GBA3,stop_gained,p.Arg461Ter,ENST00000508166,;GBA3,stop_gained,p.Arg290Ter,ENST00000511446,;	1483	97	117	SUCCESS
GABRA6	2559	.	GRCh37	5	161116134	161116134	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	133	0	ENST00000274545.5:c.405C>T	p.Leu135=	p.L135=	ENST00000274545		135	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS4356.1	405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTCTTCAG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000274545	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,synonymous_variant,p.%3D,ENST00000523217,;GABRA6,synonymous_variant,p.%3D,ENST00000520000,;GABRA6,synonymous_variant,p.%3D,ENST00000274545,;GABRA6,synonymous_variant,p.%3D,ENST00000517823,;GABRA6,synonymous_variant,p.%3D,ENST00000523691,;RP11-348M17.2,intron_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	838	133	114	SUCCESS
RARS	0	.	GRCh37	5	167937603	167937603	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs199894860	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	248	18	244	0	ENST00000231572.3:c.1364G>A	p.Arg455His	p.R455H	ENST00000231572	NM_002887.3	455	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4367.1	1364	MUTECT|MUSE	.	AACACGTTCGG	NONE	byCluster	.	Superfamily_domains:SSF52374,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00456,Pfam_domain:PF00750,hmmpanther:PTHR11956:SF1,hmmpanther:PTHR11956,HAMAP:MF_00123	.	.	ENSP00000231572	.	12/15	.	.	.	.	.	.	.	.	rs199894860	12/15	PASS	ENST00000231572	Transcript	.	.	ENSG00000113643	9870	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	SYRC_HUMAN	RARS	HGNC	F5H3T8_HUMAN	.	UPI0000136648	SNV	RARS,missense_variant,p.Arg455His,ENST00000231572,;RARS,missense_variant,p.Arg249His,ENST00000538719,;RARS,3_prime_UTR_variant,,ENST00000520013,;RARS,downstream_gene_variant,,ENST00000518757,;	1418	244	266	SUCCESS
CDH9	1007	.	GRCh37	5	26881658	26881658	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	48	0	ENST00000231021.4:c.1957C>T	p.Arg653Trp	p.R653W	ENST00000231021	NM_016279.3	653	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS3893.1	1957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCGGACAT	NONE	.	.	Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	.	.	ENSP00000231021	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Arg653Trp,ENST00000231021,;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	2130	48	56	SUCCESS
RASA1	5921	.	GRCh37	5	86564269	86564269	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	52	98	1	ENST00000274376.6:c.1A>G	p.Met1?	p.M1?	ENST00000274376	NM_002890.2	1	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS34200.1	1	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACATGATG	NONE	.	.	hmmpanther:PTHR10194	.	.	ENSP00000274376	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious_low_confidence(0)	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,start_lost,p.Met1?,ENST00000274376,;RASA1,upstream_gene_variant,,ENST00000512763,;RASA1,upstream_gene_variant,,ENST00000456692,;RASA1,upstream_gene_variant,,ENST00000506290,;RASA1,start_lost,p.Met1?,ENST00000515800,;	565	99	116	SUCCESS
LNPEP	4012	.	GRCh37	5	96315623	96315623	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	73	130	0	ENST00000231368.5:c.801A>G	p.Ile267Met	p.I267M	ENST00000231368	NM_005575.2	267	atA/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS4087.1	801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATATCTAG	NONE	.	.	Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	.	.	ENSP00000231368	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000231368	Transcript	.	.	ENSG00000113441	6656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	deleterious(0.04)	.	LCAP_HUMAN	LNPEP	HGNC	.	.	UPI000013C94B	SNV	LNPEP,missense_variant,p.Ile253Met,ENST00000395770,;LNPEP,missense_variant,p.Ile267Met,ENST00000231368,;	1493	130	135	SUCCESS
FAM26E	0	.	GRCh37	6	116837131	116837131	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	37	0	ENST00000368599.3:c.909G>T	p.Val303=	p.V303=	ENST00000368599	NM_153711.2	303	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5108.1	909	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTGGGTAC	NONE	.	.	hmmpanther:PTHR32261:SF4,hmmpanther:PTHR32261	.	.	ENSP00000357588	.	2/2	.	.	.	.	.	.	.	.	COSM1754448	2/2	PASS	ENST00000368599	Transcript	.	.	ENSG00000178033	21568	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	FA26E_HUMAN	FAM26E	HGNC	.	.	UPI0000072525	SNV	FAM26E,synonymous_variant,p.%3D,ENST00000368599,;TRAPPC3L,intron_variant,,ENST00000437098,;TRAPPC3L,intron_variant,,ENST00000368602,;TRAPPC3L,upstream_gene_variant,,ENST00000356128,;	960	37	55	SUCCESS
HDGFL1	154150	.	GRCh37	6	22570024	22570024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	50	85	0	ENST00000510882.2:c.220G>A	p.Gly74Ser	p.G74S	ENST00000510882		74	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS34347.1	220	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCGGCTTC	NONE	.	.	hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF19,Pfam_domain:PF00855,Gene3D:2.30.30.160,Superfamily_domains:SSF63748	.	.	ENSP00000442129	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000510882	Transcript	.	.	ENSG00000112273	21095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0.01)	.	HDGL1_HUMAN	HDGFL1	HGNC	.	.	UPI0000039B1A	SNV	HDGFL1,missense_variant,p.Gly74Ser,ENST00000510882,;HDGFL1,missense_variant,p.Gly74Ser,ENST00000230012,;	230	85	103	SUCCESS
ELOVL4	6785	.	GRCh37	6	80629233	80629233	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	46	119	0	ENST00000369816.4:c.573C>A	p.Ile191=	p.I191=	ENST00000369816	NM_022726.3	191	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS4992.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGGATAAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF37,Pfam_domain:PF01151	.	.	ENSP00000358831	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000369816	Transcript	.	.	ENSG00000118402	14415	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOV4_HUMAN	ELOVL4	HGNC	.	.	UPI0000049DA1	SNV	ELOVL4,synonymous_variant,p.%3D,ENST00000369816,;	874	119	125	SUCCESS
ELOVL4	6785	.	GRCh37	6	80629234	80629234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	44	120	0	ENST00000369816.4:c.572T>A	p.Ile191Asn	p.I191N	ENST00000369816	NM_022726.3	191	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS4992.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGATAAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF37,Pfam_domain:PF01151	.	.	ENSP00000358831	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000369816	Transcript	.	.	ENSG00000118402	14415	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ELOV4_HUMAN	ELOVL4	HGNC	.	.	UPI0000049DA1	SNV	ELOVL4,missense_variant,p.Ile191Asn,ENST00000369816,;	873	120	125	SUCCESS
C6ORF165	0	.	GRCh37	6	88170802	88170802	+	synonymous_variant	Silent	SNP	G	G	A	rs149608815	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	230	189	419	0	ENST00000369562.4:c.1557G>A	p.Thr519=	p.T519=	ENST00000369562	NM_001031743.2	519	acG/acA	0	A:0.0016	A:0	.	A:0.0014	.	A	T	protein_coding	YES	CCDS34498.1	1557	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGAATAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	A:0	A:0.0026	ENSP00000358575	A:0.003	12/13	.	.	.	.	.	.	.	.	rs149608815,COSM3875991	12/13	common_in_exac	ENST00000369562	Transcript	.	A:0.0008	ENSG00000272514	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	.	C6ORF165	Uniprot_gn	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN	.	UPI00001A3AA5	SNV	C6ORF165,synonymous_variant,p.%3D,ENST00000369562,;C6orf165,non_coding_transcript_exon_variant,,ENST00000513191,;C6orf165,non_coding_transcript_exon_variant,,ENST00000506888,;C6orf165,synonymous_variant,p.%3D,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;	1669	420	419	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113519477	113519477	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs536084008	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	62	89	0	ENST00000284601.3:c.1670C>T	p.Ala557Val	p.A557V	ENST00000284601	NM_002711.3	557	gCt/gTt	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS5759.1	1670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTAGCTCCA	NONE	by1000G	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2	A:0	.	ENSP00000284601	A:0	4/4	.	.	.	.	.	.	.	.	rs536084008	4/4	PASS	ENST00000284601	Transcript	.	A:0.0002	ENSG00000154415	9291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	A:0.001	tolerated(0.06)	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,missense_variant,p.Ala557Val,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	1739	89	121	SUCCESS
SLC4A2	6522	.	GRCh37	7	150767561	150767561	+	synonymous_variant	Silent	SNP	A	A	T	rs746607700	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	51	80	0	ENST00000413384.2:c.1467A>T	p.Pro489=	p.P489=	ENST00000413384	NM_003040.3	489	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5917.1	1467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCAGCACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834,Gene3D:1hynR00,Superfamily_domains:SSF55804	.	.	ENSP00000419412	.	11/23	.	.	.	.	.	.	.	.	rs746607700	11/23	PASS	ENST00000485713	Transcript	.	.	ENSG00000164889	11028	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3A2_HUMAN	SLC4A2	HGNC	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN	.	UPI000013EFE9	SNV	SLC4A2,synonymous_variant,p.%3D,ENST00000485713,;SLC4A2,synonymous_variant,p.%3D,ENST00000392826,;SLC4A2,synonymous_variant,p.%3D,ENST00000310317,;SLC4A2,synonymous_variant,p.%3D,ENST00000413384,;SLC4A2,synonymous_variant,p.%3D,ENST00000461735,;RP11-148K1.12,downstream_gene_variant,,ENST00000485974,;SLC4A2,upstream_gene_variant,,ENST00000482697,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000469355,;SLC4A2,upstream_gene_variant,,ENST00000472204,;SLC4A2,upstream_gene_variant,,ENST00000460010,;SLC4A2,upstream_gene_variant,,ENST00000494298,;SLC4A2,upstream_gene_variant,,ENST00000480107,;SLC4A2,upstream_gene_variant,,ENST00000493040,;	2507	80	86	SUCCESS
HOXA7	3204	.	GRCh37	7	27196120	27196120	+	synonymous_variant	Silent	SNP	C	C	A	rs201461196	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	76	187	0	ENST00000242159.3:c.45G>T	p.Thr15=	p.T15=	ENST00000242159	NM_006896.3	15	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5408.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCCGTATA	BUFFER|p.A18T|c.52G>A|3	.	.	hmmpanther:PTHR24326:SF163,hmmpanther:PTHR24326	.	.	ENSP00000242159	.	1/2	.	.	.	.	.	.	.	.	rs201461196	1/2	PASS	ENST00000242159	Transcript	.	.	ENSG00000122592	5108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA7_HUMAN	HOXA7	HGNC	E5RHM9_HUMAN	.	UPI000013CAF3	SNV	HOXA7,synonymous_variant,p.%3D,ENST00000242159,;HOXA7,synonymous_variant,p.%3D,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;HOXA7,upstream_gene_variant,,ENST00000523796,;HOXA3,upstream_gene_variant,,ENST00000518451,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;	179	187	194	SUCCESS
CACNA2D1	781	.	GRCh37	7	81599250	81599250	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764500181	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	80	0	ENST00000356253.5:c.2291A>T	p.Tyr764Phe	p.Y764F	ENST00000356253		764	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS5598.1	2255	RADIA|MUTECT|MUSE	.	TTTTATAGAAG	NONE	byFrequency	.	hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	.	.	ENSP00000349320	.	28/39	.	.	.	.	.	.	.	.	rs764500181	28/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,missense_variant,p.Tyr764Phe,ENST00000356253,;CACNA2D1,missense_variant,p.Tyr263Phe,ENST00000443883,;CACNA2D1,missense_variant,p.Tyr752Phe,ENST00000356860,;CACNA2D1,intron_variant,,ENST00000535308,;CACNA2D1,intron_variant,,ENST00000486539,;	2594	80	74	SUCCESS
CYP51A1	1595	.	GRCh37	7	91763824	91763824	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs768872365	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	29	0	ENST00000003100.8:c.-146C>T		p.*49*	ENST00000003100	NM_000786.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5623.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCGCCACC	NONE	.	.	.	.	.	ENSP00000003100	.	1/10	.	.	.	.	.	.	.	.	rs768872365	1/10	PASS	ENST00000003100	Transcript	.	.	ENSG00000001630	2649	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP51A_HUMAN	CYP51A1	HGNC	.	.	UPI000013C4D5	SNV	CYP51A1,5_prime_UTR_variant,,ENST00000003100,;CYP51A1,intron_variant,,ENST00000435873,;CYP51A1,intron_variant,,ENST00000450723,;CTB-161K23.1,upstream_gene_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;	21	29	29	SUCCESS
C8orf76	84933	.	GRCh37	8	124232443	124232443	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	63	1	ENST00000276704.4:c.1043T>C	p.Val348Ala	p.V348A	ENST00000276704	NM_032847.2	348	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS6341.1	1043	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATACAGTC	NONE	.	.	hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1	.	.	ENSP00000276704	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000276704	Transcript	.	.	ENSG00000189376	25924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	CH076_HUMAN	C8orf76	HGNC	.	.	UPI000006E851	SNV	C8orf76,missense_variant,p.Val348Ala,ENST00000276704,;MIR4663,upstream_gene_variant,,ENST00000582039,;C8orf76,non_coding_transcript_exon_variant,,ENST00000519791,;	1095	64	83	SUCCESS
COL22A1	169044	.	GRCh37	8	139890313	139890313	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375895986	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	72	0	ENST00000303045.6:c.338G>A	p.Gly113Asp	p.G113D	ENST00000303045	NM_152888.1	113	gGc/gAc	0	T:0	.	.	.	.	T	G/D	protein_coding	YES	CCDS6376.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCCCCCG	NONE	byCluster	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	T:0.0001	ENSP00000303153	.	3/65	.	.	.	.	.	.	.	.	rs375895986	3/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Gly113Asp,ENST00000303045,;COL22A1,missense_variant,p.Gly113Asp,ENST00000435777,;COL22A1,downstream_gene_variant,,ENST00000484387,;	785	72	111	SUCCESS
MMP16	4325	.	GRCh37	8	89128908	89128908	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs772275333	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	73	179	1	ENST00000286614.6:c.911C>T	p.Pro304Leu	p.P304L	ENST00000286614	NM_005941.4	304	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6246.1	911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGGTAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,PIRSF_domain:PIRSF001191	.	.	ENSP00000286614	.	6/10	.	.	.	.	.	.	.	.	rs772275333,COSM751502,COSM3952026	6/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.564)	.	deleterious(0.04)	0,1,1	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,missense_variant,p.Pro304Leu,ENST00000286614,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	1193	180	223	SUCCESS
TLR4	7099	.	GRCh37	9	120466672	120466672	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	11	0	ENST00000355622.6:c.-79T>C		p.*27*	ENST00000355622	NM_138557.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6818.1	.	MUTECT|MUSE	.	GAAACTGCTCG	NONE	.	.	.	.	.	ENSP00000363089	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,5_prime_UTR_variant,,ENST00000355622,;TLR4,5_prime_UTR_variant,,ENST00000394487,;RNU6-1082P,downstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,upstream_gene_variant,,ENST00000490685,;	23	11	10	SUCCESS
LURAP1L	286343	.	GRCh37	9	12821394	12821394	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	45	0	ENST00000319264.3:c.322A>G	p.Arg108Gly	p.R108G	ENST00000319264	NM_203403.1	108	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS6473.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCAGAGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14854	.	.	ENSP00000321026	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319264	Transcript	.	.	ENSG00000153714	31452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	LUR1L_HUMAN	LURAP1L	HGNC	.	.	UPI0000140566	SNV	LURAP1L,missense_variant,p.Arg108Gly,ENST00000319264,;	1017	45	45	SUCCESS
PRRC2B	84726	.	GRCh37	9	134334701	134334701	+	synonymous_variant	Silent	SNP	G	G	A	rs565217318	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	93	0	ENST00000357304.4:c.1362G>A	p.Pro454=	p.P454=	ENST00000357304	NM_013318.3	454	ccG/ccA	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS48044.1	1362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCCCAG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	A:0	.	ENSP00000349856	A:0	10/31	.	.	.	.	.	.	.	.	rs565217318	10/31	PASS	ENST00000357304	Transcript	.	A:0.0004	ENSG00000130723	28121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ9_HUMAN,B4E3S7_HUMAN	.	UPI00002374A3	SNV	PRRC2B,synonymous_variant,p.%3D,ENST00000458550,;PRRC2B,synonymous_variant,p.%3D,ENST00000357304,;PRRC2B,synonymous_variant,p.%3D,ENST00000405995,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,intron_variant,,ENST00000422467,;	1417	93	72	SUCCESS
GBGT1	26301	.	GRCh37	9	136031344	136031344	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	38	61	0	ENST00000372040.3:c.189-21A>G		p.*63*	ENST00000372040				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6960.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTGATGG	NONE	.	.	.	.	.	ENSP00000361110	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372040	Transcript	.	.	ENSG00000148288	20460	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBGT1_HUMAN	GBGT1	HGNC	J7Q0Z1_HUMAN,J7PW20_HUMAN	.	UPI000013DB02	SNV	GBGT1,intron_variant,,ENST00000372040,;GBGT1,intron_variant,,ENST00000372038,;GBGT1,intron_variant,,ENST00000540636,;GBGT1,intron_variant,,ENST00000372043,;RALGDS,intron_variant,,ENST00000542690,;GBGT1,downstream_gene_variant,,ENST00000372036,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;GBGT1,intron_variant,,ENST00000470431,;	.	61	68	SUCCESS
KLHL9	55958	.	GRCh37	9	21333361	21333361	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	100	1	ENST00000359039.4:c.1498G>T	p.Gly500Cys	p.G500C	ENST00000359039		500	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS6503.1	1498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCACCAA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000351933	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359039	Transcript	.	.	ENSG00000198642	18732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KLHL9_HUMAN	KLHL9	HGNC	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN	.	UPI0000049FCF	SNV	KLHL9,missense_variant,p.Gly432Cys,ENST00000537938,;KLHL9,missense_variant,p.Gly500Cys,ENST00000359039,;	2019	101	72	SUCCESS
FRMD7	90167	.	GRCh37	X	131212174	131212174	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751858239	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	87	85	1	ENST00000298542.4:c.1871C>A	p.Thr624Lys	p.T624K	ENST00000298542	NM_194277.2	624	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS35397.1	1871	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TATCCGTAAAC	NONE	.	.	.	.	.	ENSP00000298542	.	12/12	.	.	.	.	.	.	.	.	rs751858239	12/12	PASS	ENST00000298542	Transcript	.	.	ENSG00000165694	8079	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.187)	.	tolerated(1)	.	FRMD7_HUMAN	FRMD7	HGNC	.	.	UPI00001C0AED	SNV	FRMD7,missense_variant,p.Thr609Lys,ENST00000464296,;FRMD7,missense_variant,p.Thr504Lys,ENST00000370879,;FRMD7,missense_variant,p.Thr624Lys,ENST00000298542,;MST4,downstream_gene_variant,,ENST00000394334,;MST4,downstream_gene_variant,,ENST00000496850,;MST4,downstream_gene_variant,,ENST00000481105,;MST4,downstream_gene_variant,,ENST00000394335,;MST4,downstream_gene_variant,,ENST00000354719,;	2047	87	96	SUCCESS
SLITRK2	84631	.	GRCh37	X	144904694	144904694	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	69	64	0	ENST00000370490.1:c.751G>A	p.Gly251Arg	p.G251R	ENST00000370490		251	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS14680.1	751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATGGGAAA	NONE	.	.	hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	COSM3558855	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0.02)	1	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Gly251Arg,ENST00000370490,;SLITRK2,missense_variant,p.Gly251Arg,ENST00000434188,;SLITRK2,missense_variant,p.Gly251Arg,ENST00000428560,;SLITRK2,missense_variant,p.Gly251Arg,ENST00000413937,;SLITRK2,missense_variant,p.Gly251Arg,ENST00000447897,;SLITRK2,missense_variant,p.Gly251Arg,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	5006	64	73	SUCCESS
MAP7D2	256714	.	GRCh37	X	20034222	20034222	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	69	85	0	ENST00000379651.3:c.1511T>C	p.Ile504Thr	p.I504T	ENST00000379651	NM_152780.3	504	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS55386.1	1634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAATCATG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15073:SF3,hmmpanther:PTHR15073,Pfam_domain:PF05672	.	.	ENSP00000368964	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000379643	Transcript	.	.	ENSG00000184368	25899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	MA7D2_HUMAN	MAP7D2	HGNC	.	.	UPI00015E039B	SNV	MAP7D2,missense_variant,p.Ile545Thr,ENST00000379643,;MAP7D2,missense_variant,p.Ile459Thr,ENST00000443379,;MAP7D2,missense_variant,p.Ile389Thr,ENST00000543767,;MAP7D2,missense_variant,p.Ile452Thr,ENST00000452324,;MAP7D2,missense_variant,p.Ile504Thr,ENST00000379651,;MIR23C,downstream_gene_variant,,ENST00000579846,;MAP7D2,3_prime_UTR_variant,,ENST00000485173,;	1672	86	82	SUCCESS
MAGEB18	286514	.	GRCh37	X	26157400	26157400	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	44	51	0	ENST00000325250.1:c.298G>A	p.Glu100Lys	p.E100K	ENST00000325250	NM_173699.3	100	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14216.1	298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGAGGGC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF23	.	.	ENSP00000314543	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000325250	Transcript	.	.	ENSG00000176774	28515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.08)	.	MAGBI_HUMAN	MAGEB18	HGNC	.	.	UPI00001415E3	SNV	MAGEB18,missense_variant,p.Glu100Lys,ENST00000325250,;	485	51	47	SUCCESS
MAGEB16	139604	.	GRCh37	X	35820424	35820424	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	59	0	ENST00000399985.1:c.111C>T	p.Thr37=	p.T37=	ENST00000399985		37	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43927.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCCTCCT	NONE	.	.	hmmpanther:PTHR11736:SF24,hmmpanther:PTHR11736,Pfam_domain:PF12440	.	.	ENSP00000382871	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000399989	Transcript	.	.	ENSG00000189023	21188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGBG_HUMAN	MAGEB16	HGNC	.	.	UPI00006C1BC1	SNV	MAGEB16,synonymous_variant,p.%3D,ENST00000399987,;MAGEB16,synonymous_variant,p.%3D,ENST00000399992,;MAGEB16,synonymous_variant,p.%3D,ENST00000399988,;MAGEB16,synonymous_variant,p.%3D,ENST00000399985,;MAGEB16,synonymous_variant,p.%3D,ENST00000399989,;	390	59	76	SUCCESS
ITIH6	347365	.	GRCh37	X	54784679	54784679	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	87	100	0	ENST00000218436.6:c.1828A>G	p.Met610Val	p.M610V	ENST00000218436	NM_198510.2	610	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS14361.1	1828	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGACCA	NONE	.	.	hmmpanther:PTHR10338:SF10,hmmpanther:PTHR10338	.	.	ENSP00000218436	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000218436	Transcript	.	.	ENSG00000102313	28907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	ITIH6_HUMAN	ITIH6	HGNC	.	.	UPI00000540C8	SNV	ITIH6,missense_variant,p.Met610Val,ENST00000218436,;	1858	100	99	SUCCESS
AR	367	.	GRCh37	X	66931524	66931524	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	20	160	0	ENST00000374690.3:c.2166C>A	p.Ala722=	p.A722=	ENST00000374690	NM_000044.3	722	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14387.1	2166	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCTTGCC	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000363822	.	4/8	.	.	.	.	.	.	.	.	CD025334	4/8	PASS	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	SNV	AR,synonymous_variant,p.%3D,ENST00000396043,;AR,synonymous_variant,p.%3D,ENST00000396044,;AR,synonymous_variant,p.%3D,ENST00000374690,;	2690	160	165	SUCCESS
TBL1X	6907	.	GRCh37	X	9677726	9677726	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	149	134	0	ENST00000217964.7:c.1365A>G	p.Lys455=	p.K455=	ENST00000217964	NM_005647.3	455	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS14133.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAAAGAGAT	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22846,hmmpanther:PTHR22846:SF36,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000217964	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000217964	Transcript	.	.	ENSG00000101849	11585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBL1X_HUMAN	TBL1X	HGNC	C9JYQ8_HUMAN,C9JP56_HUMAN,C9JCW3_HUMAN,C9J5F9_HUMAN	.	UPI0000161FAF	SNV	TBL1X,synonymous_variant,p.%3D,ENST00000424279,;TBL1X,synonymous_variant,p.%3D,ENST00000217964,;TBL1X,synonymous_variant,p.%3D,ENST00000380961,;TBL1X,synonymous_variant,p.%3D,ENST00000407597,;TBL1X,synonymous_variant,p.%3D,ENST00000536365,;	2005	134	162	SUCCESS
PPAPDC1A	0	.	GRCh37	10	122334705	122334705	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770040474	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	144	0	ENST00000398250.1:c.508G>A	p.Glu170Lys	p.E170K	ENST00000398250	NM_001030059.1	170	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS41573.1	508	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGAGAGT	NONE	byFrequency	.	hmmpanther:PTHR10165:SF90,hmmpanther:PTHR10165,Gene3D:1.20.144.10,Pfam_domain:PF01569,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000381302	.	6/7	.	.	.	.	.	.	.	.	rs770040474,COSM271479	6/7	PASS	ENST00000398250	Transcript	.	.	ENSG00000203805	23531	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.227)	.	tolerated(0.14)	0,1	PPC1A_HUMAN	PPAPDC1A	HGNC	.	.	UPI00001619F5	SNV	PPAPDC1A,missense_variant,p.Glu160Lys,ENST00000369073,;PPAPDC1A,missense_variant,p.Glu170Lys,ENST00000541332,;PPAPDC1A,missense_variant,p.Glu170Lys,ENST00000398250,;PPAPDC1A,missense_variant,p.Glu170Lys,ENST00000427079,;PPAPDC1A,missense_variant,p.Glu107Lys,ENST00000439221,;PPAPDC1A,intron_variant,,ENST00000398248,;PPAPDC1A,non_coding_transcript_exon_variant,,ENST00000496437,;	860	144	50	SUCCESS
C10orf113	0	.	GRCh37	10	21435299	21435299	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768465539	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	25	90	0	ENST00000534331.1:c.139G>C	p.Ala47Pro	p.A47P	ENST00000534331	NM_001010896.2	47	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS31162.2	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGCCACAC	NONE	.	.	.	.	.	ENSP00000433646	.	1/2	.	.	.	.	.	.	.	.	rs768465539	1/2	PASS	ENST00000534331	Transcript	.	.	ENSG00000204683	31447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	tolerated_low_confidence(0.28)	.	CJ113_HUMAN	C10orf113	HGNC	.	.	UPI00001D8111	SNV	C10orf113,missense_variant,p.Ala37Pro,ENST00000377118,;C10orf113,missense_variant,p.Ala47Pro,ENST00000529198,;C10orf113,missense_variant,p.Ala47Pro,ENST00000534331,;NEBL,intron_variant,,ENST00000417816,;	190	90	43	SUCCESS
WAC	51322	.	GRCh37	10	28884889	28884889	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	8	67	0	ENST00000354911.4:c.838T>C	p.Phe280Leu	p.F280L	ENST00000354911	NM_016628.4	280	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS7159.1	838	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCATTTGAT	NONE	.	.	hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF5	.	.	ENSP00000346986	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000354911	Transcript	.	.	ENSG00000095787	17327	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated_low_confidence(0.51)	.	WAC_HUMAN	WAC	HGNC	J3QTA0_HUMAN,E9PMZ7_HUMAN,C9JVK6_HUMAN,C9JMU2_HUMAN,C9JD58_HUMAN	.	UPI000013D398	SNV	WAC,missense_variant,p.Phe235Leu,ENST00000375664,;WAC,missense_variant,p.Phe280Leu,ENST00000354911,;WAC,missense_variant,p.Phe235Leu,ENST00000428935,;WAC,intron_variant,,ENST00000347934,;WAC,intron_variant,,ENST00000375646,;WAC,downstream_gene_variant,,ENST00000442148,;WAC,downstream_gene_variant,,ENST00000420266,;WAC,downstream_gene_variant,,ENST00000414108,;WAC,missense_variant,p.Phe235Leu,ENST00000439676,;WAC,3_prime_UTR_variant,,ENST00000424454,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,non_coding_transcript_exon_variant,,ENST00000476046,;WAC,downstream_gene_variant,,ENST00000472862,;	999	67	40	SUCCESS
PARG	8505	.	GRCh37	10	51027418	51027418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	141	0	ENST00000402038.3:c.1444G>T	p.Ala482Ser	p.A482S	ENST00000402038	NM_003631.2	482	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	.	1444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGCGGTCT	NONE	.	.	hmmpanther:PTHR12837	.	.	ENSP00000384408	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000402038	Transcript	.	.	ENSG00000227345	8605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.45)	.	PARG_HUMAN	PARG	HGNC	B4DX76_HUMAN,B4DHS4_HUMAN	.	UPI0000404B69	SNV	PARG,missense_variant,p.Ala482Ser,ENST00000402038,;RP11-507K13.6,downstream_gene_variant,,ENST00000444021,;	1444	141	80	SUCCESS
CSTF2T	23283	.	GRCh37	10	53458228	53458228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	47	0	ENST00000331173.4:c.1082G>T	p.Gly361Val	p.G361V	ENST00000331173	NM_015235.2	361	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7245.1	1082	MUTECT|MUSE	.	GGGGACCCTGA	NONE	.	.	hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF55	.	.	ENSP00000332444	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331173	Transcript	.	.	ENSG00000177613	17086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CSTFT_HUMAN	CSTF2T	HGNC	.	.	UPI0000073CA9	SNV	CSTF2T,missense_variant,p.Gly361Val,ENST00000331173,;PRKG1,intron_variant,,ENST00000373976,;PRKG1,intron_variant,,ENST00000401604,;PRKG1,intron_variant,,ENST00000373985,;PRKG1,intron_variant,,ENST00000373980,;	1128	47	22	SUCCESS
ZNF365	22891	.	GRCh37	10	64148261	64148261	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	57	0	ENST00000395254.3:c.850C>G	p.Leu284Val	p.L284V	ENST00000395254	NM_014951.2	284	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS7264.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAACTGGCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15739	.	.	ENSP00000387091	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.3)	.	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,missense_variant,p.Leu284Val,ENST00000395254,;ZNF365,missense_variant,p.Leu284Val,ENST00000410046,;ZNF365,missense_variant,p.Leu284Val,ENST00000395255,;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,;	1130	57	29	SUCCESS
RP11-96C23.11	0	.	GRCh37	10	88768173	88768173	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	121	0	ENST00000437689.3:n.251C>T		p.*84*	ENST00000437689				0	.	.	.	.	.	T	.	antisense	YES	.	.	RADIA|MUTECT|MUSE	.	TTCCTCCTCCA	NONE	.	1369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451760	Transcript	.	.	ENSG00000229969	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-96C23.10	Clone_based_vega_gene	.	.	.	SNV	RP11-96C23.10,downstream_gene_variant,,ENST00000451760,;AGAP11,non_coding_transcript_exon_variant,,ENST00000444431,;RP11-96C23.5,non_coding_transcript_exon_variant,,ENST00000433214,;RP11-96C23.14,intron_variant,,ENST00000444180,;RP11-96C23.11,non_coding_transcript_exon_variant,,ENST00000437689,;	.	121	44	SUCCESS
GRIA4	2893	.	GRCh37	11	105804564	105804564	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	142	0	ENST00000282499.5:c.2163A>T	p.Lys721Asn	p.K721N	ENST00000282499	NM_000829.3	721	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS8333.1	2163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAATTTGC	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Lys721Asn,ENST00000282499,;GRIA4,missense_variant,p.Lys721Asn,ENST00000530497,;GRIA4,missense_variant,p.Lys721Asn,ENST00000393127,;GRIA4,missense_variant,p.Lys721Asn,ENST00000525187,;AP000673.1,upstream_gene_variant,,ENST00000583628,;GRIA4,upstream_gene_variant,,ENST00000533094,;GRIA4,missense_variant,p.Lys11Asn,ENST00000525942,;	2609	142	69	SUCCESS
MRVI1	0	.	GRCh37	11	10613101	10613101	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	81	0	ENST00000423302.2:c.2234T>C	p.Leu745Ser	p.L745S	ENST00000423302	NM_130385.3	745	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS55746.1	2234	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAAAAGT	NONE	.	.	hmmpanther:PTHR15352:SF2,hmmpanther:PTHR15352,Pfam_domain:PF05781	.	.	ENSP00000412130	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000423302	Transcript	.	.	ENSG00000072952	7237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.02)	.	MRVI1_HUMAN	MRVI1	HGNC	H0YI08_HUMAN,E9PRG4_HUMAN	.	UPI0001F78343	SNV	MRVI1,missense_variant,p.Leu718Ser,ENST00000436272,;MRVI1,missense_variant,p.Leu430Ser,ENST00000424001,;MRVI1,missense_variant,p.Leu430Ser,ENST00000545852,;MRVI1,missense_variant,p.Leu654Ser,ENST00000547195,;MRVI1,missense_variant,p.Leu745Ser,ENST00000423302,;MRVI1,missense_variant,p.Leu430Ser,ENST00000558540,;MRVI1,missense_variant,p.Leu430Ser,ENST00000534266,;MRVI1,missense_variant,p.Leu737Ser,ENST00000531107,;MRVI1,missense_variant,p.Leu654Ser,ENST00000527509,;MRVI1,missense_variant,p.Leu654Ser,ENST00000552103,;MRVI1,missense_variant,p.Leu539Ser,ENST00000541483,;MRVI1,missense_variant,p.Leu736Ser,ENST00000421747,;MRVI1-AS1,intron_variant,,ENST00000529979,;MRVI1-AS1,intron_variant,,ENST00000529829,;MRVI1-AS1,upstream_gene_variant,,ENST00000525578,;LYVE1,intron_variant,,ENST00000531706,;MRVI1,3_prime_UTR_variant,,ENST00000526414,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;MRVI1,downstream_gene_variant,,ENST00000529471,;	2384	81	32	SUCCESS
RAB39A	54734	.	GRCh37	11	107799382	107799382	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	71	0	ENST00000320578.2:c.88C>A	p.Gln30Lys	p.Q30K	ENST00000320578	NM_017516.1	30	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS8338.1	88	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCCAGGGC	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF312,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000322594	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000320578	Transcript	.	.	ENSG00000179331	16521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.04)	.	RB39A_HUMAN	RAB39A	HGNC	.	.	UPI000006FF11	SNV	RAB39A,missense_variant,p.Gln30Lys,ENST00000320578,;SLC35F2,upstream_gene_variant,,ENST00000429869,;SLC35F2,upstream_gene_variant,,ENST00000525071,;	154	71	41	SUCCESS
DSCAML1	57453	.	GRCh37	11	117301747	117301747	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	44	0	ENST00000321322.6:c.5557A>G	p.Lys1853Glu	p.K1853E	ENST00000321322	NM_020693.2	1853	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS8384.1	5557	MUTECT|MUSE	.	TCCTTTGTCTG	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171	.	.	ENSP00000315465	.	32/33	.	.	.	.	.	.	.	.	.	32/33	PASS	ENST00000321322	Transcript	.	.	ENSG00000177103	14656	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.909)	.	deleterious(0.04)	.	DSCL1_HUMAN	DSCAML1	HGNC	.	.	UPI00000726E2	SNV	DSCAML1,missense_variant,p.Lys1583Glu,ENST00000527706,;DSCAML1,missense_variant,p.Lys1853Glu,ENST00000321322,;	5559	44	25	SUCCESS
TRAPPC4	51399	.	GRCh37	11	118889521	118889521	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs372565482	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	84	0	ENST00000533632.1:c.16G>A	p.Val6Met	p.V6M	ENST00000533632	NM_016146.4	6	Gtg/Atg	0	A:0	.	.	.	.	A	V/M	protein_coding	YES	CCDS8407.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTGTGTAT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF64356,Gene3D:2j3wA00,Pfam_domain:PF04099,hmmpanther:PTHR23249,hmmpanther:PTHR23249:SF15	.	A:0.0001	ENSP00000436005	.	1/5	.	.	.	.	.	.	.	.	rs372565482	1/5	PASS	ENST00000533632	Transcript	.	.	ENSG00000196655	19943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TPPC4_HUMAN	TRAPPC4	HGNC	G3V1A0_HUMAN	.	UPI0000052E23	SNV	TRAPPC4,missense_variant,p.Val6Met,ENST00000533632,;TRAPPC4,missense_variant,p.Val6Met,ENST00000533058,;TRAPPC4,missense_variant,p.Val6Met,ENST00000528230,;TRAPPC4,missense_variant,p.Val6Met,ENST00000359005,;TRAPPC4,missense_variant,p.Val6Met,ENST00000434101,;TRAPPC4,missense_variant,p.Val6Met,ENST00000525303,;CCDC84,downstream_gene_variant,,ENST00000334418,;RPS25,upstream_gene_variant,,ENST00000527673,;MIR3656,upstream_gene_variant,,ENST00000577421,;RPS25,upstream_gene_variant,,ENST00000528547,;CCDC84,downstream_gene_variant,,ENST00000580556,;TRAPPC4,upstream_gene_variant,,ENST00000526141,;TRAPPC4,missense_variant,p.Val6Met,ENST00000525079,;TRAPPC4,missense_variant,p.Val6Met,ENST00000533012,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000531290,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000527680,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000447216,;TRAPPC4,upstream_gene_variant,,ENST00000524797,;CCDC84,downstream_gene_variant,,ENST00000526463,;CCDC84,downstream_gene_variant,,ENST00000532132,;RPS25,upstream_gene_variant,,ENST00000527853,;RPS25,upstream_gene_variant,,ENST00000532567,;RPS25,upstream_gene_variant,,ENST00000527791,;TRAPPC4,upstream_gene_variant,,ENST00000533149,;CCDC84,downstream_gene_variant,,ENST00000533787,;CCDC84,downstream_gene_variant,,ENST00000527356,;CCDC84,downstream_gene_variant,,ENST00000583842,;RPS25,upstream_gene_variant,,ENST00000524864,;	380	84	56	SUCCESS
PANX3	116337	.	GRCh37	11	124487191	124487191	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1212145992	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	28	0	ENST00000284288.2:c.346G>T	p.Ala116Ser	p.A116S	ENST00000284288	NM_052959.2	116	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS8447.1	346	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCTGGCCCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF00876,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3,PROSITE_profiles:PS51013	.	.	ENSP00000284288	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000284288	Transcript	.	.	ENSG00000154143	20573	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.304)	.	tolerated(0.07)	.	PANX3_HUMAN	PANX3	HGNC	.	.	UPI0000131264	SNV	PANX3,missense_variant,p.Ala116Ser,ENST00000284288,;	413	28	20	SUCCESS
PIK3C2A	5286	.	GRCh37	11	17191152	17191152	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	32	261	1	ENST00000265970.7:c.137G>A	p.Arg46Lys	p.R46K	ENST00000265970	NM_002645.2	46	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS7824.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTCTATCC	NONE	.	.	hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048	.	.	ENSP00000265970	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000265970	Transcript	.	.	ENSG00000011405	8971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.71)	.	P3C2A_HUMAN	PIK3C2A	HGNC	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN	.	UPI000013D6B3	SNV	PIK3C2A,missense_variant,p.Arg46Lys,ENST00000265970,;PIK3C2A,missense_variant,p.Arg46Lys,ENST00000532035,;PIK3C2A,intron_variant,,ENST00000540361,;PIK3C2A,intron_variant,,ENST00000531428,;PIK3C2A,missense_variant,p.Arg46Lys,ENST00000533645,;	137	262	155	SUCCESS
ZNF195	7748	.	GRCh37	11	3381365	3381365	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	134	0	ENST00000399602.4:c.873G>A	p.Glu291=	p.E291=	ENST00000399602	NM_001130520.2	291	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS44522.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTCTCAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF87,Gene3D:3.30.160.60	.	.	ENSP00000382511	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000399602	Transcript	.	.	ENSG00000005801	12986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN195_HUMAN	ZNF195	HGNC	.	.	UPI0000D6258D	SNV	ZNF195,synonymous_variant,p.%3D,ENST00000528410,;ZNF195,synonymous_variant,p.%3D,ENST00000526601,;ZNF195,synonymous_variant,p.%3D,ENST00000429541,;ZNF195,synonymous_variant,p.%3D,ENST00000354599,;ZNF195,synonymous_variant,p.%3D,ENST00000399602,;ZNF195,synonymous_variant,p.%3D,ENST00000343338,;ZNF195,synonymous_variant,p.%3D,ENST00000005082,;ZNF195,3_prime_UTR_variant,,ENST00000438262,;ZNF195,intron_variant,,ENST00000528796,;ZNF195,downstream_gene_variant,,ENST00000529678,;ZNF195,downstream_gene_variant,,ENST00000534569,;ZNF195,downstream_gene_variant,,ENST00000533036,;ZNF195,downstream_gene_variant,,ENST00000427810,;ZNF195,downstream_gene_variant,,ENST00000528636,;ZNF195,downstream_gene_variant,,ENST00000524857,;ZNF195,downstream_gene_variant,,ENST00000330692,;ZNF195,downstream_gene_variant,,ENST00000530643,;ZNF195,downstream_gene_variant,,ENST00000526540,;ZNF195,downstream_gene_variant,,ENST00000529228,;ZNF195,downstream_gene_variant,,ENST00000526598,;ZNF195,downstream_gene_variant,,ENST00000528218,;ZNF195,downstream_gene_variant,,ENST00000529789,;ZNF195,downstream_gene_variant,,ENST00000525313,;	1000	134	77	SUCCESS
CEP57	9702	.	GRCh37	11	95560987	95560987	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	98	0	ENST00000325542.5:c.923A>C	p.Gln308Pro	p.Q308P	ENST00000325542	NM_001243776.1	308	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS8304.1	923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCAGCTTG	NONE	.	.	hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF11	.	.	ENSP00000317902	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000325542	Transcript	.	.	ENSG00000166037	30794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	CEP57_HUMAN	CEP57	HGNC	F5H1B0_HUMAN,F5GYW0_HUMAN	.	UPI0000070D0B	SNV	CEP57,missense_variant,p.Gln67Pro,ENST00000537093,;CEP57,missense_variant,p.Gln299Pro,ENST00000541150,;CEP57,missense_variant,p.Gln98Pro,ENST00000535224,;CEP57,missense_variant,p.Gln282Pro,ENST00000325486,;CEP57,missense_variant,p.Gln308Pro,ENST00000325542,;CEP57,missense_variant,p.Gln281Pro,ENST00000537677,;CEP57,downstream_gene_variant,,ENST00000538658,;CEP57,3_prime_UTR_variant,,ENST00000540830,;CEP57,3_prime_UTR_variant,,ENST00000539855,;CEP57,non_coding_transcript_exon_variant,,ENST00000538158,;AP001877.1,upstream_gene_variant,,ENST00000542426,;	1161	98	60	SUCCESS
SPIC	121599	.	GRCh37	12	101873452	101873452	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	85	0	ENST00000551346.1:c.190T>C	p.Tyr64His	p.Y64H	ENST00000551346		64	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS9082.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCTATAAT	NONE	.	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF17	.	.	ENSP00000448580	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000551346	Transcript	.	.	ENSG00000166211	29549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.33)	.	SPIC_HUMAN	SPIC	HGNC	.	.	UPI0000073CD8	SNV	SPIC,missense_variant,p.Tyr64His,ENST00000551346,;SPIC,missense_variant,p.Tyr64His,ENST00000299272,;	349	85	38	SUCCESS
KLRC2	3822	.	GRCh37	12	10584707	10584707	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	rs772181046	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	22	343	0	ENST00000381902.2:c.582T>C		p.X194_splice	ENST00000381902	NM_002260.3	194	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS31745.1	582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTATGTTT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF162,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000371327	.	5/6	.	.	.	.	.	.	.	.	rs772181046	5/6	PASS	ENST00000381902	Transcript	.	.	ENSG00000205809	6375	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2C_HUMAN	KLRC2	HGNC	.	.	UPI0000140823	SNV	KLRC2,synonymous_variant,p.%3D,ENST00000537017,;KLRC2,synonymous_variant,p.%3D,ENST00000381902,;KLRC2,synonymous_variant,p.%3D,ENST00000536833,;KLRC2,synonymous_variant,p.%3D,ENST00000381901,;NKG2-E,intron_variant,,ENST00000539033,;KLRC2,splice_region_variant,,ENST00000535069,;	589	343	144	SUCCESS
HECTD4	283450	.	GRCh37	12	112703691	112703696	+	inframe_deletion	In_Frame_Del	DEL	TCATCC	TCATCC	-	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	TCATCC	TCATCC	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	134	0	ENST00000550722.1:c.2052_2057del	p.Glu684_Asp685del	p.E684_D685del	ENST00000550722	NM_001109662.3	684	gaGGATGAt/gat	0	.	.	.	.	.	-	EDD/D	protein_coding	YES	.	2052-2057	INDELOCATOR*|PINDEL	.	TAATGATCATCCTCATC	NONE	.	.	.	.	.	ENSP00000449784	.	15/76	.	.	.	.	.	.	.	.	.	15/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	deletion	HECTD4,inframe_deletion,p.Glu396_Asp397del,ENST00000430131,;HECTD4,inframe_deletion,p.Glu684_Asp685del,ENST00000550722,;HECTD4,inframe_deletion,p.Glu646_Asp647del,ENST00000377560,;HECTD4,downstream_gene_variant,,ENST00000550724,;RN7SKP71,upstream_gene_variant,,ENST00000364558,;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;HECTD4,upstream_gene_variant,,ENST00000547352,;	2448-2453	134	61	SUCCESS
TAOK3	51347	.	GRCh37	12	118636888	118636888	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1178825984	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	118	1	ENST00000392533.3:c.1162A>G	p.Ile388Val	p.I388V	ENST00000392533	NM_016281.3	388	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS9188.1	1162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGATTGTGC	NONE	.	.	hmmpanther:PTHR24361:SF187,hmmpanther:PTHR24361	.	.	ENSP00000376317	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000392533	Transcript	.	.	ENSG00000135090	18133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TAOK3_HUMAN	TAOK3	HGNC	G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN	.	UPI000007231B	SNV	TAOK3,missense_variant,p.Ile388Val,ENST00000392533,;TAOK3,missense_variant,p.Ile388Val,ENST00000419821,;TAOK3,downstream_gene_variant,,ENST00000538601,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;TAOK3,non_coding_transcript_exon_variant,,ENST00000536584,;	1653	119	53	SUCCESS
ATP6V0A2	23545	.	GRCh37	12	124229432	124229432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	101	0	ENST00000330342.3:c.1518C>A	p.Asp506Glu	p.D506E	ENST00000330342	NM_012463.3	506	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS9254.1	1518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACAGCGT	BUFFER|p.N505N|c.1515T>C|3	.	.	hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF22,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000332247	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000330342	Transcript	.	.	ENSG00000185344	18481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.56)	.	VPP2_HUMAN	ATP6V0A2	HGNC	F5H847_HUMAN,F5H5F3_HUMAN,B4DQF7_HUMAN	.	UPI00001AFC09	SNV	ATP6V0A2,missense_variant,p.Asp506Glu,ENST00000330342,;ATP6V0A2,downstream_gene_variant,,ENST00000504192,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000536426,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000545059,;	1766	101	37	SUCCESS
C2CD5	9847	.	GRCh37	12	22610088	22610088	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	174	0	ENST00000333957.4:c.2541A>T	p.Thr847=	p.T847=	ENST00000333957	NM_014802.1	847	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31758.1	2541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACTGTCAT	NONE	.	.	.	.	.	ENSP00000334229	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,synonymous_variant,p.%3D,ENST00000545552,;C2CD5,synonymous_variant,p.%3D,ENST00000333957,;C2CD5,synonymous_variant,p.%3D,ENST00000544930,;C2CD5,synonymous_variant,p.%3D,ENST00000542676,;C2CD5,synonymous_variant,p.%3D,ENST00000446597,;C2CD5,synonymous_variant,p.%3D,ENST00000536386,;C2CD5,synonymous_variant,p.%3D,ENST00000539615,;C2CD5,synonymous_variant,p.%3D,ENST00000396028,;RP11-359J14.2,downstream_gene_variant,,ENST00000543604,;C2CD5,non_coding_transcript_exon_variant,,ENST00000543888,;	2797	174	82	SUCCESS
ITPR2	3709	.	GRCh37	12	26647155	26647155	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	86	0	ENST00000381340.3:c.5301T>C	p.Asn1767=	p.N1767=	ENST00000381340	NM_002223.2	1767	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS41764.1	5301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCATTTTT	NONE	.	.	hmmpanther:PTHR13715	.	.	ENSP00000370744	.	39/57	.	.	.	.	.	.	.	.	.	39/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	SNV	ITPR2,synonymous_variant,p.%3D,ENST00000381340,;ITPR2,synonymous_variant,p.%3D,ENST00000451599,;ITPR2,non_coding_transcript_exon_variant,,ENST00000543958,;ITPR2,non_coding_transcript_exon_variant,,ENST00000540429,;	5718	86	21	SUCCESS
KMT2D	8085	.	GRCh37	12	49431342	49431342	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	55	0	ENST00000301067.7:c.9797T>A	p.Leu3266His	p.L3266H	ENST00000301067	NM_003482.3	3266	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS44873.1	9797	MUTECT|MUSE	.	CTGAAAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	34/54	.	.	.	.	.	.	.	.	.	34/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Leu3266His,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;	9797	55	15	SUCCESS
KRT18	3875	.	GRCh37	12	53345925	53345925	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	37	0	ENST00000388835.3:c.971T>A	p.Leu324Gln	p.L324Q	ENST00000388835	NM_000224.2	324	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31809.1	971	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CAGCCTGAGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000373487	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000388835	Transcript	.	.	ENSG00000111057	6430	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.896)	.	deleterious(0.01)	.	K1C18_HUMAN	KRT18	HGNC	I6L965_HUMAN	.	UPI000004284B	SNV	KRT18,missense_variant,p.Leu324Gln,ENST00000388835,;KRT18,missense_variant,p.Leu324Gln,ENST00000388837,;KRT18,missense_variant,p.Leu324Gln,ENST00000550600,;KRT8,upstream_gene_variant,,ENST00000546826,;KRT8,upstream_gene_variant,,ENST00000552551,;KRT8,upstream_gene_variant,,ENST00000546897,;KRT8,upstream_gene_variant,,ENST00000548998,;AC107016.2,downstream_gene_variant,,ENST00000581256,;KRT8,upstream_gene_variant,,ENST00000549198,;KRT8,upstream_gene_variant,,ENST00000551318,;KRT8,upstream_gene_variant,,ENST00000552877,;KRT18,non_coding_transcript_exon_variant,,ENST00000546656,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT18,non_coding_transcript_exon_variant,,ENST00000548496,;KRT18,downstream_gene_variant,,ENST00000548015,;KRT8,upstream_gene_variant,,ENST00000546921,;AC107016.1,downstream_gene_variant,,ENST00000432903,;	1181	37	14	SUCCESS
MARS	0	.	GRCh37	12	57910031	57910031	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	153	0	ENST00000262027.5:c.2467A>C	p.Lys823Gln	p.K823Q	ENST00000262027	NM_004990.3	823	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS8942.1	2467	RADIA|MUTECT|MUSE	.	AGGCAAAAACG	NONE	.	.	hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69	.	.	ENSP00000262027	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.36)	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,missense_variant,p.Lys142Gln,ENST00000552914,;MARS,missense_variant,p.Lys823Gln,ENST00000262027,;MARS,missense_variant,p.Lys89Gln,ENST00000547665,;MARS,3_prime_UTR_variant,,ENST00000315473,;MARS,intron_variant,,ENST00000548944,;DDIT3,downstream_gene_variant,,ENST00000346473,;DDIT3,downstream_gene_variant,,ENST00000552740,;MBD6,upstream_gene_variant,,ENST00000548887,;DDIT3,downstream_gene_variant,,ENST00000551116,;MBD6,upstream_gene_variant,,ENST00000551351,;DDIT3,downstream_gene_variant,,ENST00000547526,;DDIT3,downstream_gene_variant,,ENST00000547303,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,3_prime_UTR_variant,,ENST00000551172,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000552499,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000549603,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000551805,;	2601	153	58	SUCCESS
MARS	0	.	GRCh37	12	57910051	57910051	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	30	147	0	ENST00000262027.5:c.2487A>C	p.Ala829=	p.A829=	ENST00000262027	NM_004990.3	829	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS8942.1	2487	RADIA|MUTECT|MUSE	.	CCAGCAGTTGT	NONE	.	.	hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69	.	.	ENSP00000262027	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000262027	Transcript	.	.	ENSG00000166986	6898	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYMC_HUMAN	MARS	HGNC	.	.	UPI0000136597	SNV	MARS,synonymous_variant,p.%3D,ENST00000552914,;MARS,synonymous_variant,p.%3D,ENST00000262027,;MARS,synonymous_variant,p.%3D,ENST00000547665,;MARS,3_prime_UTR_variant,,ENST00000315473,;MARS,intron_variant,,ENST00000548944,;DDIT3,downstream_gene_variant,,ENST00000346473,;DDIT3,downstream_gene_variant,,ENST00000552740,;MBD6,upstream_gene_variant,,ENST00000548887,;DDIT3,downstream_gene_variant,,ENST00000551116,;MBD6,upstream_gene_variant,,ENST00000551351,;DDIT3,downstream_gene_variant,,ENST00000547526,;DDIT3,downstream_gene_variant,,ENST00000547303,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,3_prime_UTR_variant,,ENST00000551172,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000552499,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000549603,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000551805,;	2621	147	60	SUCCESS
CAND1	55832	.	GRCh37	12	67699601	67699602	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	105	0	ENST00000545606.1:c.2156dup	p.Leu719PhefsTer19	p.L719Ffs*19	ENST00000545606	NM_018448.3	718	act/acTt	0	.	.	.	.	.	T	T/TX	protein_coding	YES	CCDS8977.1	2153-2154	INDELOCATOR*|VARSCANI*|PINDEL	.	TACCACTTTGG	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	insertion	CAND1,frameshift_variant,p.Leu719PhefsTer19,ENST00000545606,;CAND1,frameshift_variant,p.Leu259PhefsTer19,ENST00000544619,;CAND1,intron_variant,,ENST00000540319,;	2590-2591	105	80	SUCCESS
PHLDA1	22822	.	GRCh37	12	76425490	76425490	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	65	0	ENST00000266671.5:c.32T>G	p.Leu11Trp	p.L11W	ENST00000266671		11	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS31861.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAAGAGG	NONE	.	.	.	.	.	ENSP00000266671	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000266671	Transcript	.	.	ENSG00000139289	8933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious_low_confidence(0)	.	PHLA1_HUMAN	PHLDA1	HGNC	R4GND3_HUMAN,A2BDE7_HUMAN	.	UPI000013D704	SNV	PHLDA1,missense_variant,p.Leu11Trp,ENST00000266671,;PHLDA1,upstream_gene_variant,,ENST00000602540,;RP11-290L1.3,downstream_gene_variant,,ENST00000552367,;RP11-290L1.2,upstream_gene_variant,,ENST00000547721,;	2223	65	34	SUCCESS
ATP2B1	490	.	GRCh37	12	89992431	89992431	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	97	0	ENST00000428670.3:c.3351+463A>G		p.*1117*	ENST00000428670				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9035.1	.	MUTECT|MUSE|VARSCANS	.	TTTGTTACATC	NONE	.	.	.	.	.	ENSP00000392043	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428670	Transcript	.	.	ENSG00000070961	814	.	.	MODIFIER	20/20	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT2B1_HUMAN	ATP2B1	HGNC	Q3L582_HUMAN	.	UPI000002A436	SNV	ATP2B1,synonymous_variant,p.%3D,ENST00000359142,;ATP2B1,intron_variant,,ENST00000428670,;ATP2B1,intron_variant,,ENST00000550716,;ATP2B1,intron_variant,,ENST00000393164,;ATP2B1,intron_variant,,ENST00000261173,;ATP2B1,intron_variant,,ENST00000348959,;RP11-981P6.1,downstream_gene_variant,,ENST00000552778,;ATP2B1,downstream_gene_variant,,ENST00000552275,;	.	97	46	SUCCESS
NR2C1	7181	.	GRCh37	12	95451647	95451647	+	synonymous_variant	Silent	SNP	T	T	C	rs752310809	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	127	0	ENST00000333003.5:c.552A>G	p.Gln184=	p.Q184=	ENST00000333003	NM_003297.3	184	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS9051.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACATTGGAC	NONE	byFrequency	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49,Gene3D:1.10.565.10,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716,Prints_domain:PR00398	.	.	ENSP00000333275	.	6/14	.	.	.	.	.	.	.	.	rs752310809	6/14	PASS	ENST00000333003	Transcript	.	.	ENSG00000120798	7971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR2C1_HUMAN	NR2C1	HGNC	H9NIM2_HUMAN	.	UPI00001AE7E6	SNV	NR2C1,synonymous_variant,p.%3D,ENST00000393101,;NR2C1,synonymous_variant,p.%3D,ENST00000333003,;NR2C1,synonymous_variant,p.%3D,ENST00000330677,;NR2C1,non_coding_transcript_exon_variant,,ENST00000548252,;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,downstream_gene_variant,,ENST00000552417,;NR2C1,downstream_gene_variant,,ENST00000551386,;NR2C1,downstream_gene_variant,,ENST00000546367,;NR2C1,upstream_gene_variant,,ENST00000547594,;NR2C1,downstream_gene_variant,,ENST00000548966,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;	883	127	70	SUCCESS
ANKS1B	56899	.	GRCh37	12	99638191	99638191	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1314744105	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	8	98	0	ENST00000547776.2:c.2348T>C	p.Ile783Thr	p.I783T	ENST00000547776	NM_152788.4	783	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS55872.1	2348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCAATCTGT	NONE	.	.	hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3	.	.	ENSP00000449629	.	14/26	.	.	.	.	.	.	.	.	.	14/26	PASS	ENST00000547776	Transcript	.	.	ENSG00000185046	24600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	ANS1B_HUMAN	ANKS1B	HGNC	R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN	.	UPI00003FE521	SNV	ANKS1B,missense_variant,p.Ile783Thr,ENST00000329257,;ANKS1B,missense_variant,p.Ile55Thr,ENST00000550778,;ANKS1B,missense_variant,p.Ile363Thr,ENST00000547010,;ANKS1B,missense_variant,p.Ile783Thr,ENST00000547776,;ANKS1B,downstream_gene_variant,,ENST00000549866,;ANKS1B,downstream_gene_variant,,ENST00000550833,;ANKS1B,downstream_gene_variant,,ENST00000546631,;ANKS1B,downstream_gene_variant,,ENST00000550157,;	2348	98	58	SUCCESS
ANKS1B	56899	.	GRCh37	12	99793570	99793570	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746993204	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	120	0	ENST00000547776.2:c.1595T>C	p.Ile532Thr	p.I532T	ENST00000547776	NM_152788.4	532	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS55872.1	1595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAATGGAT	NONE	byFrequency	.	hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3	.	.	ENSP00000449629	.	12/26	.	.	.	.	.	.	.	.	rs746993204	12/26	PASS	ENST00000547776	Transcript	.	.	ENSG00000185046	24600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.205)	.	deleterious(0)	.	ANS1B_HUMAN	ANKS1B	HGNC	R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN	.	UPI00003FE521	SNV	ANKS1B,missense_variant,p.Ile532Thr,ENST00000329257,;ANKS1B,missense_variant,p.Ile498Thr,ENST00000549866,;ANKS1B,missense_variant,p.Ile112Thr,ENST00000547010,;ANKS1B,missense_variant,p.Ile532Thr,ENST00000547776,;	1595	120	69	SUCCESS
TPP2	7174	.	GRCh37	13	103271076	103271076	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	74	0	ENST00000376065.4:c.500A>G	p.Asn167Ser	p.N167S	ENST00000376065	NM_003291.2	167	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS9502.1	500	MUTECT|MUSE	.	GGCAAATAAAC	NONE	.	.	Pfam_domain:PF00082,hmmpanther:PTHR10795	.	.	ENSP00000365233	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000376065	Transcript	.	.	ENSG00000134900	12016	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.18)	.	TPP2_HUMAN	TPP2	HGNC	.	.	UPI0000001C91	SNV	TPP2,missense_variant,p.Asn167Ser,ENST00000376052,;TPP2,missense_variant,p.Asn167Ser,ENST00000376065,;	536	74	35	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102463601	102463601	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	40	0	ENST00000360184.4:c.3794A>C	p.Lys1265Thr	p.K1265T	ENST00000360184	NM_001376.4	1265	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS9966.1	3794	MUTECT|MUSE	.	GACCAAGCCTG	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	16/78	.	.	.	.	.	.	.	.	.	16/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,missense_variant,p.Lys1265Thr,ENST00000360184,;	3958	40	17	SUCCESS
MYH7	4625	.	GRCh37	14	23901921	23901921	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	54	0	ENST00000355349.3:c.429G>A	p.Arg143=	p.R143=	ENST00000355349	NM_000257.2	143	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9601.1	429	RADIA|MUTECT|MUSE	.	TTGCCCCGGTA	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000347507	.	5/40	.	.	.	.	.	.	.	.	COSM1369238	5/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,synonymous_variant,p.%3D,ENST00000355349,;	592	54	12	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36041819	36041819	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779478358	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	73	0	ENST00000389698.3:c.5797A>G	p.Ile1933Val	p.I1933V	ENST00000389698	NM_014990.1	1933	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS32064.1	5797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATTACAA	NONE	.	.	PROSITE_profiles:PS50085,hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063,Pfam_domain:PF02145,Superfamily_domains:0043732	.	.	ENSP00000302647	.	37/40	.	.	.	.	.	.	.	.	rs779478358	37/40	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,missense_variant,p.Ile1933Val,ENST00000389698,;RALGAPA1,missense_variant,p.Ile1980Val,ENST00000553892,;RALGAPA1,missense_variant,p.Ile1946Val,ENST00000382366,;RALGAPA1,missense_variant,p.Ile1980Val,ENST00000258840,;RALGAPA1,missense_variant,p.Ile216Val,ENST00000554573,;RALGAPA1,missense_variant,p.Ile571Val,ENST00000554259,;RALGAPA1,missense_variant,p.Ile1933Val,ENST00000307138,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000556837,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554355,;	6266	73	28	SUCCESS
TTC6	319089	.	GRCh37	14	38273976	38273976	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757891111	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	168	0	ENST00000267368.7:c.314A>G	p.Tyr105Cys	p.Y105C	ENST00000267368		105	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	4121	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTATAACT	NONE	.	.	Superfamily_domains:SSF48452,Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13414,Gene3D:1.25.40.10,hmmpanther:PTHR23083:SF351,hmmpanther:PTHR23083,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000451131	.	21/31	.	.	.	.	.	.	.	.	rs757891111	21/31	PASS	ENST00000553443	Transcript	.	.	ENSG00000139865	19739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	.	TTC6	HGNC	Q3SY87_HUMAN,G3V3A5_HUMAN	.	UPI00021CF1B4	SNV	TTC6,missense_variant,p.Tyr105Cys,ENST00000267368,;TTC6,missense_variant,p.Tyr1374Cys,ENST00000553443,;TTC6,missense_variant,p.Tyr88Cys,ENST00000382320,;TTC6,missense_variant,p.Tyr105Cys,ENST00000476979,;TTC6,downstream_gene_variant,,ENST00000554555,;TTC6,missense_variant,p.Tyr105Cys,ENST00000478811,;TTC6,intron_variant,,ENST00000533625,;	4121	168	69	SUCCESS
KTN1	3895	.	GRCh37	14	56078888	56078888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	199	0	ENST00000395314.3:c.122A>G	p.Gln41Arg	p.Q41R	ENST00000395314	NM_001079521.1	41	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS41957.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACAGAAAA	NONE	.	.	hmmpanther:PTHR18864	.	.	ENSP00000378725	.	2/44	.	.	.	.	.	.	.	.	.	2/44	PASS	ENST00000395314	Transcript	.	.	ENSG00000126777	6467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.783)	.	deleterious(0)	.	KTN1_HUMAN	KTN1	HGNC	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN	.	UPI0000190F88	SNV	KTN1,missense_variant,p.Gln41Arg,ENST00000395308,;KTN1,missense_variant,p.Gln41Arg,ENST00000438792,;KTN1,missense_variant,p.Gln41Arg,ENST00000395309,;KTN1,missense_variant,p.Gln41Arg,ENST00000413890,;KTN1,missense_variant,p.Gln41Arg,ENST00000395311,;KTN1,missense_variant,p.Gln41Arg,ENST00000395314,;KTN1,missense_variant,p.Gln41Arg,ENST00000416613,;KTN1,missense_variant,p.Gln41Arg,ENST00000555498,;KTN1,missense_variant,p.Gln41Arg,ENST00000557267,;KTN1,intron_variant,,ENST00000554567,;KTN1,missense_variant,p.Gln41Arg,ENST00000459737,;	190	199	94	SUCCESS
SNW1	22938	.	GRCh37	14	78198864	78198864	+	synonymous_variant	Silent	SNP	G	G	A	rs957305852	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	100	0	ENST00000261531.7:c.855C>T	p.Ala285=	p.A285=	ENST00000261531	NM_012245.2	285	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9867.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTGGCGAA	NONE	.	.	hmmpanther:PTHR12096,Pfam_domain:PF02731	.	.	ENSP00000261531	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,synonymous_variant,p.%3D,ENST00000261531,;SNW1,synonymous_variant,p.%3D,ENST00000554775,;SNW1,synonymous_variant,p.%3D,ENST00000555761,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,intron_variant,,ENST00000556375,;SNW1,downstream_gene_variant,,ENST00000554324,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SNW1,non_coding_transcript_exon_variant,,ENST00000553565,;SLIRP,intron_variant,,ENST00000556310,;	918	100	32	SUCCESS
ZC3H14	79882	.	GRCh37	14	89034417	89034417	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	147	0	ENST00000251038.5:c.114G>T	p.Val38=	p.V38=	ENST00000251038	NM_024824.4	38	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS32133.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGGCCAA	NONE	.	.	hmmpanther:PTHR14738,hmmpanther:PTHR14738:SF29	.	.	ENSP00000251038	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000251038	Transcript	1	.	ENSG00000100722	20509	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC3HE_HUMAN	ZC3H14	HGNC	G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN	.	UPI00001BDB9B	SNV	ZC3H14,synonymous_variant,p.%3D,ENST00000336693,;ZC3H14,synonymous_variant,p.%3D,ENST00000555120,;ZC3H14,synonymous_variant,p.%3D,ENST00000555755,;ZC3H14,synonymous_variant,p.%3D,ENST00000359301,;ZC3H14,synonymous_variant,p.%3D,ENST00000556945,;ZC3H14,synonymous_variant,p.%3D,ENST00000554602,;ZC3H14,synonymous_variant,p.%3D,ENST00000556158,;ZC3H14,synonymous_variant,p.%3D,ENST00000393514,;ZC3H14,synonymous_variant,p.%3D,ENST00000555799,;ZC3H14,synonymous_variant,p.%3D,ENST00000557693,;ZC3H14,synonymous_variant,p.%3D,ENST00000302216,;ZC3H14,synonymous_variant,p.%3D,ENST00000251038,;ZC3H14,intron_variant,,ENST00000557607,;ZC3H14,upstream_gene_variant,,ENST00000556000,;ZC3H14,synonymous_variant,p.%3D,ENST00000553495,;	339	147	47	SUCCESS
ZC3H14	79882	.	GRCh37	14	89034418	89034418	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	146	0	ENST00000251038.5:c.115G>T	p.Ala39Ser	p.A39S	ENST00000251038	NM_024824.4	39	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS32133.1	115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGCCAAC	NONE	.	.	hmmpanther:PTHR14738,hmmpanther:PTHR14738:SF29	.	.	ENSP00000251038	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000251038	Transcript	1	.	ENSG00000100722	20509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZC3HE_HUMAN	ZC3H14	HGNC	G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN	.	UPI00001BDB9B	SNV	ZC3H14,missense_variant,p.Ala5Ser,ENST00000336693,;ZC3H14,missense_variant,p.Ala5Ser,ENST00000555120,;ZC3H14,missense_variant,p.Ala39Ser,ENST00000555755,;ZC3H14,missense_variant,p.Ala5Ser,ENST00000359301,;ZC3H14,missense_variant,p.Ala39Ser,ENST00000556945,;ZC3H14,missense_variant,p.Ala5Ser,ENST00000554602,;ZC3H14,missense_variant,p.Ala26Ser,ENST00000556158,;ZC3H14,missense_variant,p.Ala39Ser,ENST00000393514,;ZC3H14,missense_variant,p.Ala5Ser,ENST00000555799,;ZC3H14,missense_variant,p.Ala5Ser,ENST00000557693,;ZC3H14,missense_variant,p.Ala39Ser,ENST00000302216,;ZC3H14,missense_variant,p.Ala39Ser,ENST00000251038,;ZC3H14,intron_variant,,ENST00000557607,;ZC3H14,upstream_gene_variant,,ENST00000556000,;ZC3H14,missense_variant,p.Ala39Ser,ENST00000553495,;	340	146	47	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40321621	40321621	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs754527586	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	127	0	ENST00000263791.5:c.4517A>G	p.Asn1506Ser	p.N1506S	ENST00000263791	NM_001013703.2	1506	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS42016.1	4517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATAATCTTG	NONE	.	.	Pfam_domain:PF12745,PIRSF_domain:PIRSF000660	.	.	ENSP00000263791	.	34/39	.	.	.	.	.	.	.	.	rs754527586	34/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.92)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Asn1284Ser,ENST00000560855,;EIF2AK4,missense_variant,p.Asn1478Ser,ENST00000382727,;EIF2AK4,missense_variant,p.Asn1506Ser,ENST00000263791,;EIF2AK4,upstream_gene_variant,,ENST00000558823,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558557,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558629,;EIF2AK4,downstream_gene_variant,,ENST00000559032,;	4560	127	60	SUCCESS
FBN1	2200	.	GRCh37	15	48808530	48808530	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs983129867	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	26	0	ENST00000316623.5:c.1177A>G	p.Met393Val	p.M393V	ENST00000316623	NM_000138.4	393	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS32232.1	1177	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TACCATAGGAA	NONE	.	.	hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,PIRSF_domain:PIRSF036312	.	.	ENSP00000325527	.	11/66	.	.	.	.	.	.	.	.	.	11/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Met393Val,ENST00000316623,;FBN1,intron_variant,,ENST00000537463,;	1633	26	13	SUCCESS
PGPEP1L	145814	.	GRCh37	15	99512764	99512764	+	synonymous_variant	Silent	SNP	C	C	A	rs572947532	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	53	0	ENST00000378919.6:c.261G>T	p.Val87=	p.V87=	ENST00000378919	NM_001102612.2	87	gtG/gtT	0	.	T:0	.	T:0	.	A	V	protein_coding	YES	CCDS53977.1	261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCACACGCC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR23402:SF14,hmmpanther:PTHR23402,Pfam_domain:PF01470,Gene3D:3.40.630.20,Superfamily_domains:SSF53182	T:0	.	ENSP00000368199	T:0	4/5	.	.	.	.	.	.	.	.	rs572947532	4/5	PASS	ENST00000378919	Transcript	.	T:0.0016	ENSG00000183571	27080	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0082	.	.	PGPIL_HUMAN	PGPEP1L	HGNC	H0YF86_HUMAN	.	UPI00006C1572	SNV	PGPEP1L,synonymous_variant,p.%3D,ENST00000378919,;PGPEP1L,synonymous_variant,p.%3D,ENST00000535714,;RP11-654A16.3,intron_variant,,ENST00000559468,;	467	53	40	SUCCESS
MYH11	4629	.	GRCh37	16	15931900	15931900	+	synonymous_variant	Silent	SNP	C	C	A	rs751505124	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	97	0	ENST00000300036.5:c.210G>T	p.Thr70=	p.T70=	ENST00000300036	NM_002474.2	70	acG/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS45423.1	210	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACCGTGAC	NONE	byFrequency	.	Superfamily_domains:SSF52540,Pfam_domain:PF02736,hmmpanther:PTHR13140:SF335,hmmpanther:PTHR13140	.	.	ENSP00000379616	.	2/42	.	.	.	.	.	.	.	.	rs751505124	2/42	PASS	ENST00000396324	Transcript	.	.	ENSG00000133392	7569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH11_HUMAN	MYH11	HGNC	Q68D89_HUMAN,Q66K75_HUMAN	.	UPI00005B7237	SNV	MYH11,synonymous_variant,p.%3D,ENST00000452625,;MYH11,synonymous_variant,p.%3D,ENST00000576790,;MYH11,synonymous_variant,p.%3D,ENST00000300036,;MYH11,synonymous_variant,p.%3D,ENST00000396324,;MYH11,non_coding_transcript_exon_variant,,ENST00000571505,;	298	97	49	SUCCESS
MT1G	4495	.	GRCh37	16	56701964	56701964	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	24	0	ENST00000379811.3:c.-59C>T		p.*20*	ENST00000379811				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10766.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACGTGGAA	NONE	.	.	.	.	.	ENSP00000391397	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000444837	Transcript	.	.	ENSG00000125144	7399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT1G_HUMAN	MT1G	HGNC	.	.	UPI000012F6DA	SNV	MT1G,5_prime_UTR_variant,,ENST00000379811,;MT1G,5_prime_UTR_variant,,ENST00000444837,;MT1H,upstream_gene_variant,,ENST00000332374,;MT1H,upstream_gene_variant,,ENST00000569155,;MT1G,upstream_gene_variant,,ENST00000568675,;MT1G,upstream_gene_variant,,ENST00000569500,;	14	24	16	SUCCESS
EXOC3L1	283849	.	GRCh37	16	67221359	67221359	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772863988	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	32	0	ENST00000314586.6:c.809G>A	p.Gly270Glu	p.G270E	ENST00000314586	NM_178516.3	270	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS10832.1	809	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGCCCCTGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF12,Pfam_domain:PF06046	.	.	ENSP00000325674	.	5/14	.	.	.	.	.	.	.	.	rs772863988	5/14	PASS	ENST00000314586	Transcript	.	.	ENSG00000179044	27540	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	EX3L1_HUMAN	EXOC3L1	HGNC	H3BTH9_HUMAN	.	UPI000013F886	SNV	EXOC3L1,missense_variant,p.Gly209Glu,ENST00000545725,;EXOC3L1,missense_variant,p.Gly214Glu,ENST00000563889,;EXOC3L1,missense_variant,p.Gly270Glu,ENST00000314586,;KIAA0895L,upstream_gene_variant,,ENST00000290881,;KIAA0895L,upstream_gene_variant,,ENST00000561621,;E2F4,upstream_gene_variant,,ENST00000379378,;KIAA0895L,upstream_gene_variant,,ENST00000563902,;EXOC3L1,downstream_gene_variant,,ENST00000564418,;EXOC3L1,intron_variant,,ENST00000562887,;KIAA0895L,upstream_gene_variant,,ENST00000563831,;KIAA0895L,upstream_gene_variant,,ENST00000564423,;EXOC3L1,intron_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000561904,;KIAA0895L,upstream_gene_variant,,ENST00000569349,;E2F4,upstream_gene_variant,,ENST00000568839,;E2F4,upstream_gene_variant,,ENST00000565849,;E2F4,upstream_gene_variant,,ENST00000563238,;E2F4,upstream_gene_variant,,ENST00000568485,;E2F4,upstream_gene_variant,,ENST00000569573,;E2F4,upstream_gene_variant,,ENST00000567007,;EXOC3L1,upstream_gene_variant,,ENST00000563536,;	1050	32	14	SUCCESS
FHOD1	29109	.	GRCh37	16	67267989	67267989	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	59	0	ENST00000258201.4:c.1617C>A	p.Leu539=	p.L539=	ENST00000258201	NM_013241.2	539	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10834.1	1617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGAGAGCCT	NONE	.	.	hmmpanther:PTHR23213:SF189,hmmpanther:PTHR23213	.	.	ENSP00000258201	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000258201	Transcript	.	.	ENSG00000135723	17905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHOD1_HUMAN	FHOD1	HGNC	.	.	UPI000013CFB9	SNV	FHOD1,synonymous_variant,p.%3D,ENST00000258201,;TMEM208,downstream_gene_variant,,ENST00000304800,;TMEM208,downstream_gene_variant,,ENST00000563953,;TMEM208,downstream_gene_variant,,ENST00000565201,;TMEM208,downstream_gene_variant,,ENST00000563426,;FHOD1,3_prime_UTR_variant,,ENST00000561922,;FHOD1,3_prime_UTR_variant,,ENST00000568595,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;FHOD1,upstream_gene_variant,,ENST00000567561,;SLC9A5,upstream_gene_variant,,ENST00000564704,;TMEM208,downstream_gene_variant,,ENST00000564649,;TMEM208,downstream_gene_variant,,ENST00000563168,;FHOD1,upstream_gene_variant,,ENST00000567509,;FHOD1,upstream_gene_variant,,ENST00000566006,;TMEM208,downstream_gene_variant,,ENST00000567193,;FHOD1,downstream_gene_variant,,ENST00000562266,;TMEM208,downstream_gene_variant,,ENST00000562235,;FHOD1,upstream_gene_variant,,ENST00000569888,;TMEM208,downstream_gene_variant,,ENST00000563271,;FHOD1,upstream_gene_variant,,ENST00000569085,;	1865	59	27	SUCCESS
AP1G1	164	.	GRCh37	16	71772938	71772938	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	55	303	0	ENST00000299980.4:c.2175T>G	p.Asn725Lys	p.N725K	ENST00000299980	NM_001128.5	725	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS45522.1	2184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTATTTGA	NONE	.	.	Superfamily_domains:SSF49348,SMART_domains:SM00809,PIRSF_domain:PIRSF037094,Gene3D:2.60.40.1230,Pfam_domain:PF02883,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23,PROSITE_profiles:PS50180	.	.	ENSP00000377148	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000393512	Transcript	.	.	ENSG00000166747	555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.88)	.	AP1G1_HUMAN	AP1G1	HGNC	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN	.	UPI000016A4AD	SNV	AP1G1,missense_variant,p.Asn725Lys,ENST00000569748,;AP1G1,missense_variant,p.Asn728Lys,ENST00000423132,;AP1G1,missense_variant,p.Asn150Lys,ENST00000564155,;AP1G1,missense_variant,p.Asn728Lys,ENST00000393512,;AP1G1,missense_variant,p.Asn748Lys,ENST00000433195,;AP1G1,missense_variant,p.Asn725Lys,ENST00000299980,;AP1G1,3_prime_UTR_variant,,ENST00000565009,;AP1G1,upstream_gene_variant,,ENST00000570052,;AP1G1,downstream_gene_variant,,ENST00000565642,;	2626	303	144	SUCCESS
OSGIN1	29948	.	GRCh37	16	83994227	83994227	+	synonymous_variant	Silent	SNP	C	C	T	rs201580564	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	41	0	ENST00000343939.2:c.507C>T	p.Ala169=	p.A169=	ENST00000343939		169	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10939.1	258	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCTGCT	NONE	.	.	hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF15	.	.	ENSP00000355374	.	4/6	.	.	.	.	.	.	.	.	rs201580564	4/6	PASS	ENST00000361711	Transcript	.	.	ENSG00000140961	30093	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSGI1_HUMAN	OSGIN1	HGNC	J3KRK7_HUMAN,H3BTF9_HUMAN	.	UPI000006CF29	SNV	OSGIN1,synonymous_variant,p.%3D,ENST00000361711,;OSGIN1,synonymous_variant,p.%3D,ENST00000565123,;OSGIN1,synonymous_variant,p.%3D,ENST00000343939,;OSGIN1,synonymous_variant,p.%3D,ENST00000393306,;OSGIN1,synonymous_variant,p.%3D,ENST00000567707,;OSGIN1,downstream_gene_variant,,ENST00000561552,;	730	41	18	SUCCESS
ADAD2	161931	.	GRCh37	16	84230532	84230532	+	synonymous_variant	Silent	SNP	C	C	T	rs901327385	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	86	0	ENST00000315906.5:c.1704C>T	p.Gly568=	p.G568=	ENST00000315906	NM_001145400.1	568	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10944.1	1950	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCTGGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000268624	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,synonymous_variant,p.%3D,ENST00000315906,;ADAD2,synonymous_variant,p.%3D,ENST00000268624,;ADAD2,downstream_gene_variant,,ENST00000567685,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000569834,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,non_coding_transcript_exon_variant,,ENST00000563849,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,downstream_gene_variant,,ENST00000564169,;	2043	86	50	SUCCESS
KRT12	3859	.	GRCh37	17	39017949	39017949	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	186	0	ENST00000251643.4:c.1449C>G	p.Val483=	p.V483=	ENST00000251643	NM_000223.3	483	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS11378.1	1449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGACCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF115,hmmpanther:PTHR23239	.	.	ENSP00000251643	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000251643	Transcript	.	.	ENSG00000187242	6414	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C12_HUMAN	KRT12	HGNC	.	.	UPI000012DAE4	SNV	KRT12,synonymous_variant,p.%3D,ENST00000251643,;RP5-1110E20.1,intron_variant,,ENST00000579136,;	1473	186	82	SUCCESS
GPATCH8	23131	.	GRCh37	17	42476641	42476641	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs542607889	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	165	0	ENST00000591680.1:c.2804A>G	p.Tyr935Cys	p.Y935C	ENST00000591680	NM_001002909.2	935	tAt/tGt	0	.	C:0.0008	.	C:0	.	C	Y/C	protein_coding	YES	CCDS32666.1	2804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATAGTCA	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11	C:0	.	ENSP00000467556	C:0	8/8	.	.	.	.	.	.	.	.	rs542607889	8/8	PASS	ENST00000591680	Transcript	.	C:0.0002	ENSG00000186566	29066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	C:0	tolerated(0.06)	.	GPTC8_HUMAN	GPATCH8	HGNC	.	.	UPI0000237985	SNV	GPATCH8,missense_variant,p.Tyr935Cys,ENST00000591680,;GPATCH8,missense_variant,p.Tyr857Cys,ENST00000434000,;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,downstream_gene_variant,,ENST00000590041,;	2835	165	94	SUCCESS
EFCAB13	124989	.	GRCh37	17	45518054	45518054	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	56	247	0	ENST00000331493.2:c.2896A>G	p.Lys966Glu	p.K966E	ENST00000331493	NM_152347.4	966	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11512.1	2896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTAAGCTT	NONE	.	.	hmmpanther:PTHR22656	.	.	ENSP00000332111	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000331493	Transcript	.	.	ENSG00000178852	26864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0)	.	EFC13_HUMAN	EFCAB13	HGNC	E5RI18_HUMAN,E5RFW6_HUMAN	.	UPI00001AFEA2	SNV	EFCAB13,missense_variant,p.Lys966Glu,ENST00000331493,;	3307	247	147	SUCCESS
TMEM92	162461	.	GRCh37	17	48356566	48356566	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs148337002	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	49	0	ENST00000300433.3:c.377A>T	p.Lys126Met	p.K126M	ENST00000300433	NM_001168215.1	126	aAg/aTg	0	T:0.0002	.	.	.	.	T	K/M	protein_coding	YES	CCDS11562.1	377	MUTECT|MUSE	.	TCTGAAGCCCA	NONE	byCluster	.	hmmpanther:PTHR31359	.	T:0	ENSP00000300433	.	6/6	.	.	.	.	.	.	.	.	rs148337002	6/6	PASS	ENST00000300433	Transcript	.	.	ENSG00000167105	26579	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.658)	.	tolerated(0.19)	.	TMM92_HUMAN	TMEM92	HGNC	.	.	UPI000013E65C	SNV	TMEM92,missense_variant,p.Lys126Met,ENST00000300433,;TMEM92,missense_variant,p.Lys126Met,ENST00000507382,;RP11-893F2.9,downstream_gene_variant,,ENST00000508851,;TMEM92,downstream_gene_variant,,ENST00000511882,;	487	49	20	SUCCESS
SMARCD2	6603	.	GRCh37	17	61914891	61914891	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs778803525	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	63	0	ENST00000448276.2:c.311G>A	p.Arg104Gln	p.R104Q	ENST00000448276	NM_001098426.1	104	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS45756.1	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCGAAGC	NONE	byFrequency	.	hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF2	.	.	ENSP00000392617	.	2/13	.	.	.	.	.	.	.	.	rs778803525,COSM982732,COSM303251	2/13	PASS	ENST00000448276	Transcript	.	.	ENSG00000108604	11107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.978)	.	tolerated(0.11)	0,1,1	SMRD2_HUMAN	SMARCD2	HGNC	J3KT18_HUMAN,J3KMX2_HUMAN	.	UPI0000D695F8	SNV	SMARCD2,missense_variant,p.Arg56Gln,ENST00000323347,;SMARCD2,missense_variant,p.Arg104Gln,ENST00000448276,;SMARCD2,missense_variant,p.Arg29Gln,ENST00000225742,;SMARCD2,upstream_gene_variant,,ENST00000450364,;SMARCD2,downstream_gene_variant,,ENST00000577990,;RN7SL805P,upstream_gene_variant,,ENST00000581353,;SMARCD2,missense_variant,p.Arg32Gln,ENST00000580054,;SMARCD2,intron_variant,,ENST00000584400,;SMARCD2,intron_variant,,ENST00000577686,;SMARCD2,upstream_gene_variant,,ENST00000584483,;SMARCD2,upstream_gene_variant,,ENST00000581832,;SMARCD2,upstream_gene_variant,,ENST00000578234,;	577	63	37	SUCCESS
TP53	7157	.	GRCh37	17	7578410	7578410	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	16	81	0	ENST00000269305.4:c.520A>T	p.Arg174Trp	p.R174W	ENST00000269305	NM_001126112.2	174	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11118.1	520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCTCACAA	SITE|p.R174W|c.520A>T|11,CODON|p.0?|c.1_1182del1182|6,CODON|p.R174K|c.521G>A|5,BUFFER|p.P177_C182delPHHERC|c.529_546del18|9,BUFFER|p.P177_C182delPHHERC|c.526_543del18|3,BUFFER|p.P177P|c.531C>T|7,BUFFER|p.P177R|c.530C>G|3,BUFFER|p.P177L|c.530C>T|20,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P177R|c.530C>G|18,BUFFER|p.P177R|c.530C>G|3,BUFFER|p.P84L|c.251C>T|4,BUFFER|p.P45L|c.134C>T|4,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P177L|c.530C>T|3,BUFFER|p.P45R|c.134C>G|3,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P84R|c.251C>G|3,BUFFER|p.H178fs*69|c.528delC|3,BUFFER|p.P177S|c.529C>T|10,BUFFER|p.C176*|c.528C>A|3,BUFFER|p.C44*|c.132C>A|3,BUFFER|p.C176*|c.528C>A|11,BUFFER|p.C176W|c.528C>G|12,BUFFER|p.C83*|c.249C>A|3,BUFFER|p.C176*|c.528C>A|3,BUFFER|p.C176fs*71|c.526delT|7,BUFFER|p.C176F|c.527G>T|33,BUFFER|p.C44Y|c.131G>A|20,BUFFER|p.C176F|c.527G>T|133,BUFFER|p.C176Y|c.527G>A|73,BUFFER|p.C176F|c.527G>T|11,BUFFER|p.C176Y|c.527G>A|19,BUFFER|p.C176F|c.527G>T|33,BUFFER|p.C83Y|c.248G>A|19,BUFFER|p.C176Y|c.527G>A|19,BUFFER|p.C176S|c.527G>C|9,BUFFER|p.C83F|c.248G>T|33,BUFFER|p.C176Y|c.527G>A|11,BUFFER|p.C176Y|c.527G>A|9,BUFFER|p.C44F|c.131G>T|34,BUFFER|p.C176F|c.527G>T|17,BUFFER|p.C83S|c.247T>A|3,BUFFER|p.C44R|c.130T>C|4,BUFFER|p.C83R|c.247T>C|4,BUFFER|p.C176G|c.526T>G|4,BUFFER|p.C176S|c.526T>A|3,BUFFER|p.C44G|c.130T>G|4,BUFFER|p.C44S|c.130T>A|3,BUFFER|p.C176S|c.526T>A|12,BUFFER|p.C176R|c.526T>C|4,BUFFER|p.C176S|c.526T>A|3,BUFFER|p.C83G|c.247T>G|4,BUFFER|p.C176G|c.526T>G|7,BUFFER|p.C176R|c.526T>C|4,BUFFER|p.C176G|c.526T>G|4,BUFFER|p.C176R|c.526T>C|13,BUFFER|p.C176fs*5|c.525_526insN|3,BUFFER|p.R175L|c.524G>T|20,BUFFER|p.R175H|c.524G>A|181,BUFFER|p.R175P|c.524G>C|6,BUFFER|p.R43H|c.128G>A|183,BUFFER|p.R82H|c.245G>A|183,BUFFER|p.R175H|c.524G>A|124,BUFFER|p.R175L|c.524G>T|3,BUFFER|p.R175L|c.524G>T|3,BUFFER|p.R175H|c.524G>A|180,BUFFER|p.R175H|c.524G>A|926,BUFFER|p.R175L|c.524G>T|3,BUFFER|p.R175H|c.524G>A|88,BUFFER|p.R43L|c.128G>T|3,BUFFER|p.R82L|c.245G>T|3,BUFFER|p.R175C|c.523C>T|18,BUFFER|p.R175S|c.523C>A|6,BUFFER|p.R82G|c.244C>G|5,BUFFER|p.R175C|c.523C>T|4,BUFFER|p.R43G|c.127C>G|8,BUFFER|p.R175G|c.523C>G|5,BUFFER|p.R43C|c.127C>T|4,BUFFER|p.R175G|c.523C>G|5,BUFFER|p.R82C|c.244C>T|4,BUFFER|p.R175G|c.523C>G|16,BUFFER|p.R175C|c.523C>T|4,BUFFER|p.V173V|c.519G>A|6,BUFFER|p.V173V|c.519G>T|3,BUFFER|p.V173A|c.518T>C|14,BUFFER|p.V173G|c.518T>G|8,BUFFER|p.V173E|c.518T>A|4,BUFFER|p.V41E|c.122T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V80E|c.239T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V173fs*1|c.517delG|4,BUFFER|p.V41L|c.121G>T|9,BUFFER|p.V80L|c.238G>T|9,BUFFER|p.V173M|c.517G>A|10,BUFFER|p.V80L|c.238G>C|5,BUFFER|p.V41M|c.121G>A|11,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|11,BUFFER|p.V173L|c.517G>C|15,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V80M|c.238G>A|11,BUFFER|p.V173L|c.517G>T|52,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173M|c.517G>A|50,BUFFER|p.V41L|c.121G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V172D|c.515T>A|11,BUFFER|p.V172A|c.515T>C|4,BUFFER|p.V172G|c.515T>G|4,BUFFER|p.V172fs*2|c.514delG|3,BUFFER|p.V79F|c.235G>T|5,BUFFER|p.V172F|c.514G>T|16,BUFFER|p.V172F|c.514G>T|4,BUFFER|p.V40F|c.118G>T|6,BUFFER|p.V172F|c.514G>T|5,BUFFER|p.V172F|c.514G>T|5,BUFFER|p.V172I|c.514G>A|8,BUFFER|p.V172F|c.514G>T|4,BUFFER|p.E171G|c.512A>G|3,BUFFER|p.E78*|c.232G>T|4,BUFFER|p.E171*|c.511G>T|4,BUFFER|p.E171Q|c.511G>C|4,BUFFER|p.E39*|c.115G>T|4,BUFFER|p.E171*|c.511G>T|13,BUFFER|p.E171*|c.511G>T|4,BUFFER|p.E171K|c.511G>A|9,BUFFER|p.T170T|c.510G>A|6,BUFFER|p.T170M|c.509C>T|7	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	CM942119,TP53_g.12508del,TP53_g.12508A>G,TP53_g.12508A>T,TP53_g.12508A>C,COSM44782,COSM43763,COSM45316,COSM131454,COSM131455,COSM131457,COSM3773316,COSM3773315,COSM131456	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg174Trp,ENST00000413465,;TP53,missense_variant,p.Arg174Trp,ENST00000420246,;TP53,missense_variant,p.Arg174Trp,ENST00000269305,;TP53,missense_variant,p.Arg42Trp,ENST00000509690,;TP53,missense_variant,p.Arg174Trp,ENST00000359597,;TP53,missense_variant,p.Arg81Trp,ENST00000514944,;TP53,missense_variant,p.Arg174Trp,ENST00000445888,;TP53,missense_variant,p.Arg174Trp,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	710	81	25	SUCCESS
HGS	9146	.	GRCh37	17	79663472	79663472	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	34	0	ENST00000329138.4:c.1479G>T	p.Glu493Asp	p.E493D	ENST00000329138	NM_004712.4	493	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS11784.1	1479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGAAGCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF79,Pfam_domain:PF12210,PIRSF_domain:PIRSF036956	.	.	ENSP00000331201	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000329138	Transcript	.	.	ENSG00000185359	4897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.08)	.	HGS_HUMAN	HGS	HGNC	I3L2H4_HUMAN,I3L165_HUMAN	.	UPI000004493D	SNV	HGS,missense_variant,p.Glu162Asp,ENST00000571237,;HGS,missense_variant,p.Glu493Asp,ENST00000329138,;HGS,upstream_gene_variant,,ENST00000575078,;HGS,upstream_gene_variant,,ENST00000573320,;HGS,downstream_gene_variant,,ENST00000572392,;RP13-1032I1.7,downstream_gene_variant,,ENST00000575312,;HGS,non_coding_transcript_exon_variant,,ENST00000573949,;HGS,non_coding_transcript_exon_variant,,ENST00000571647,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,downstream_gene_variant,,ENST00000575058,;HGS,downstream_gene_variant,,ENST00000571885,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,upstream_gene_variant,,ENST00000570652,;HGS,upstream_gene_variant,,ENST00000570355,;	1614	34	18	SUCCESS
HGS	9146	.	GRCh37	17	79663473	79663473	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	32	0	ENST00000329138.4:c.1480A>T	p.Lys494Ter	p.K494*	ENST00000329138	NM_004712.4	494	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS11784.1	1480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGAAGCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF79,Pfam_domain:PF12210,PIRSF_domain:PIRSF036956	.	.	ENSP00000331201	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000329138	Transcript	.	.	ENSG00000185359	4897	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HGS_HUMAN	HGS	HGNC	I3L2H4_HUMAN,I3L165_HUMAN	.	UPI000004493D	SNV	HGS,stop_gained,p.Lys163Ter,ENST00000571237,;HGS,stop_gained,p.Lys494Ter,ENST00000329138,;HGS,upstream_gene_variant,,ENST00000575078,;HGS,upstream_gene_variant,,ENST00000573320,;HGS,downstream_gene_variant,,ENST00000572392,;RP13-1032I1.7,downstream_gene_variant,,ENST00000575312,;HGS,non_coding_transcript_exon_variant,,ENST00000573949,;HGS,non_coding_transcript_exon_variant,,ENST00000571647,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,downstream_gene_variant,,ENST00000575058,;HGS,downstream_gene_variant,,ENST00000571885,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,upstream_gene_variant,,ENST00000570652,;HGS,upstream_gene_variant,,ENST00000570355,;	1615	32	18	SUCCESS
FASN	2194	.	GRCh37	17	80046979	80046979	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	45	0	ENST00000306749.2:c.2170A>G	p.Ser724Gly	p.S724G	ENST00000306749	NM_004104.4	724	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS11801.1	2170	MUTECT|MUSE	.	GCTGCTGTGCC	NONE	.	.	hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Gene3D:3.40.366.10,Pfam_domain:PF00698,SMART_domains:SM00827,Superfamily_domains:SSF52151	.	.	ENSP00000304592	.	14/43	.	.	.	.	.	.	.	.	.	14/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.49)	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	SNV	FASN,missense_variant,p.Ser724Gly,ENST00000306749,;FASN,upstream_gene_variant,,ENST00000579410,;	2389	45	19	SUCCESS
RAD23A	5886	.	GRCh37	19	13056794	13056794	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	67	0	ENST00000586534.1:c.32A>C	p.Gln11Pro	p.Q11P	ENST00000586534		11	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS12289.1	32	RADIA|MUTECT|MUSE	.	GCTGCAGCAGC	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF3,Gene3D:3.10.20.90,Pfam_domain:PF00240,TIGRFAM_domain:TIGR00601,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000467024	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000586534	Transcript	.	.	ENSG00000179262	9812	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.869)	.	deleterious(0.03)	.	RD23A_HUMAN	RAD23A	HGNC	K7ENJ0_HUMAN,B4DDJ7_HUMAN	.	UPI000000D7F7	SNV	RAD23A,missense_variant,p.Gln11Pro,ENST00000316856,;RAD23A,missense_variant,p.Gln11Pro,ENST00000592268,;RAD23A,missense_variant,p.Gln11Pro,ENST00000586534,;RAD23A,5_prime_UTR_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000316448,;RAD23A,upstream_gene_variant,,ENST00000590881,;CALR,downstream_gene_variant,,ENST00000586760,;CTC-425F1.4,upstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;RAD23A,missense_variant,p.Gln11Pro,ENST00000593114,;RAD23A,missense_variant,p.Gln11Pro,ENST00000591499,;RAD23A,non_coding_transcript_exon_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000586967,;RAD23A,upstream_gene_variant,,ENST00000586375,;	93	67	25	SUCCESS
RAD23A	5886	.	GRCh37	19	13056800	13056800	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	64	0	ENST00000586534.1:c.38A>C	p.Gln13Pro	p.Q13P	ENST00000586534		13	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS12289.1	38	RADIA|MUTECT|MUSE	.	GCAGCAGACCT	NONE	.	.	PROSITE_profiles:PS50053,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF3,Gene3D:3.10.20.90,Pfam_domain:PF00240,TIGRFAM_domain:TIGR00601,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000467024	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000586534	Transcript	.	.	ENSG00000179262	9812	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.856)	.	deleterious(0)	.	RD23A_HUMAN	RAD23A	HGNC	K7ENJ0_HUMAN,B4DDJ7_HUMAN	.	UPI000000D7F7	SNV	RAD23A,missense_variant,p.Gln13Pro,ENST00000316856,;RAD23A,missense_variant,p.Gln13Pro,ENST00000592268,;RAD23A,missense_variant,p.Gln13Pro,ENST00000586534,;RAD23A,5_prime_UTR_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000316448,;RAD23A,upstream_gene_variant,,ENST00000590881,;CALR,downstream_gene_variant,,ENST00000586760,;CTC-425F1.4,upstream_gene_variant,,ENST00000589120,;RAD23A,upstream_gene_variant,,ENST00000588826,;RAD23A,missense_variant,p.Gln13Pro,ENST00000593114,;RAD23A,missense_variant,p.Gln13Pro,ENST00000591499,;RAD23A,non_coding_transcript_exon_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000586803,;CALR,downstream_gene_variant,,ENST00000586967,;RAD23A,upstream_gene_variant,,ENST00000586375,;	99	64	22	SUCCESS
GDF15	9518	.	GRCh37	19	18499150	18499150	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs773889399	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	107	0	ENST00000252809.3:c.332C>G	p.Pro111Arg	p.P111R	ENST00000252809	NM_004864.2	111	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS12376.1	332	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTTCCCGAGG	NONE	byFrequency	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF78	.	.	ENSP00000252809	.	2/2	.	.	.	.	.	.	.	.	rs773889399	2/2	PASS	ENST00000252809	Transcript	.	.	ENSG00000130513	30142	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.123)	.	tolerated(0.13)	.	GDF15_HUMAN	GDF15	HGNC	.	.	UPI000006F640	SNV	GDF15,missense_variant,p.Pro111Arg,ENST00000252809,;GDF15,missense_variant,p.Pro111Arg,ENST00000595973,;LRRC25,downstream_gene_variant,,ENST00000595840,;GDF15,downstream_gene_variant,,ENST00000597765,;LRRC25,downstream_gene_variant,,ENST00000339007,;MIR3189,downstream_gene_variant,,ENST00000578735,;GDF15,non_coding_transcript_exon_variant,,ENST00000594925,;GDF15,downstream_gene_variant,,ENST00000604609,;	364	107	51	SUCCESS
THEG	51298	.	GRCh37	19	367179	367179	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770542115	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	117	0	ENST00000342640.4:c.799C>T	p.Arg267Trp	p.R267W	ENST00000342640	NM_016585.4	267	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12025.1	799	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGCGAGC	NONE	byFrequency	.	hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13,Pfam_domain:PF14912,SMART_domains:SM00705	.	.	ENSP00000340088	.	7/8	.	.	.	.	.	.	.	.	rs770542115	7/8	PASS	ENST00000342640	Transcript	.	.	ENSG00000105549	13706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	THEG_HUMAN	THEG	HGNC	.	.	UPI000006E5C6	SNV	THEG,missense_variant,p.Arg243Trp,ENST00000346878,;THEG,missense_variant,p.Arg267Trp,ENST00000342640,;THEG,synonymous_variant,p.%3D,ENST00000530711,;THEG,downstream_gene_variant,,ENST00000528213,;	842	117	38	SUCCESS
CYP2S1	29785	.	GRCh37	19	41704734	41704734	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs551233231	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	49	0	ENST00000310054.4:c.775C>A	p.Leu259Met	p.L259M	ENST00000310054	NM_030622.6	259	Ctg/Atg	0	.	G:0	.	G:0	.	A	L/M	protein_coding	YES	CCDS12573.1	775	MUTECT|MUSE	.	GGAACCTGGAT	NONE	by1000G	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	G:0	.	ENSP00000308032	G:0.001	5/9	.	.	.	.	.	.	.	.	rs551233231	5/9	PASS	ENST00000310054	Transcript	.	G:0.0002	ENSG00000167600	15654	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.846)	G:0	deleterious(0)	.	CP2S1_HUMAN	CYP2S1	HGNC	.	.	UPI00000467C9	SNV	CYP2S1,missense_variant,p.Leu259Met,ENST00000310054,;CYP2S1,intron_variant,,ENST00000600561,;CYP2S1,intron_variant,,ENST00000542619,;CYP2S1,intron_variant,,ENST00000597754,;CYP2S1,upstream_gene_variant,,ENST00000593890,;CYP2S1,intron_variant,,ENST00000595590,;CYP2S1,intron_variant,,ENST00000593545,;	991	49	17	SUCCESS
EMC10	284361	.	GRCh37	19	50981193	50981193	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765551966	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	69	0	ENST00000334976.6:c.122C>T	p.Ala41Val	p.A41V	ENST00000334976	NM_206538.2	41	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12796.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCGGAAG	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000334037	.	2/7	.	.	.	.	.	.	.	.	rs765551966	2/7	PASS	ENST00000334976	Transcript	.	.	ENSG00000161671	27609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.46)	.	EMC10_HUMAN	EMC10	HGNC	.	.	UPI0000036D2B	SNV	EMC10,missense_variant,p.Arg31Trp,ENST00000597799,;EMC10,missense_variant,p.Ala41Val,ENST00000598585,;EMC10,missense_variant,p.Ala41Val,ENST00000376918,;EMC10,missense_variant,p.Ala41Val,ENST00000334976,;EMC10,intron_variant,,ENST00000597426,;FAM71E1,upstream_gene_variant,,ENST00000595790,;FAM71E1,upstream_gene_variant,,ENST00000600100,;CTD-2545M3.2,downstream_gene_variant,,ENST00000598194,;EMC10,3_prime_UTR_variant,,ENST00000599293,;EMC10,3_prime_UTR_variant,,ENST00000601780,;FAM71E1,upstream_gene_variant,,ENST00000599206,;FAM71E1,upstream_gene_variant,,ENST00000600330,;EMC10,upstream_gene_variant,,ENST00000594508,;FAM71E1,upstream_gene_variant,,ENST00000593796,;FAM71E1,upstream_gene_variant,,ENST00000602178,;	168	69	25	SUCCESS
VN1R2	317701	.	GRCh37	19	53762414	53762414	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs1274214885	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	117	0	ENST00000341702.3:c.786T>A	p.Tyr262Ter	p.Y262*	ENST00000341702	NM_173856.2	262	taT/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS12862.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATATGCAGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,stop_gained,p.Tyr262Ter,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	870	117	67	SUCCESS
VSTM1	284415	.	GRCh37	19	54554674	54554674	+	synonymous_variant	Silent	SNP	T	T	A	rs566804822	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	139	0	ENST00000338372.2:c.384A>T	p.Ser128=	p.S128=	ENST00000338372	NM_198481.3	128	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS12872.1	384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTGAGGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11738:SF29,hmmpanther:PTHR11738	.	.	ENSP00000343366	.	4/9	.	.	.	.	.	.	.	.	rs566804822	4/9	PASS	ENST00000338372	Transcript	.	.	ENSG00000189068	29455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSTM1_HUMAN	VSTM1	HGNC	.	.	UPI00001D8195	SNV	VSTM1,synonymous_variant,p.%3D,ENST00000425006,;VSTM1,synonymous_variant,p.%3D,ENST00000338372,;VSTM1,synonymous_variant,p.%3D,ENST00000419106,;VSTM1,synonymous_variant,p.%3D,ENST00000366170,;VSTM1,synonymous_variant,p.%3D,ENST00000376626,;VSTM1,synonymous_variant,p.%3D,ENST00000447872,;	560	139	58	SUCCESS
LILRB1	10859	.	GRCh37	19	55143684	55143684	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	97	0	ENST00000324602.7:c.657C>A	p.Val219=	p.V219=	ENST00000324602	NM_001278399.1	219	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42614.1	657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCCTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000315997	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,synonymous_variant,p.%3D,ENST00000396317,;LILRB1,synonymous_variant,p.%3D,ENST00000448689,;LILRB1,synonymous_variant,p.%3D,ENST00000396331,;LILRB1,synonymous_variant,p.%3D,ENST00000396315,;LILRB1,synonymous_variant,p.%3D,ENST00000427581,;LILRB1,synonymous_variant,p.%3D,ENST00000396327,;LILRB1,synonymous_variant,p.%3D,ENST00000418536,;LILRB1,synonymous_variant,p.%3D,ENST00000434867,;LILRB1,synonymous_variant,p.%3D,ENST00000324602,;LILRB1,synonymous_variant,p.%3D,ENST00000396332,;LILRB1,synonymous_variant,p.%3D,ENST00000396321,;AC009892.10,downstream_gene_variant,,ENST00000456337,;AC009892.1,upstream_gene_variant,,ENST00000578908,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.%3D,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	882	98	21	SUCCESS
LILRB1	10859	.	GRCh37	19	55143685	55143685	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	98	0	ENST00000324602.7:c.658C>A	p.Leu220Ile	p.L220I	ENST00000324602	NM_001278399.1	220	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS42614.1	658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCCTAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000315997	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious(0.03)	.	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,missense_variant,p.Leu220Ile,ENST00000396317,;LILRB1,missense_variant,p.Leu220Ile,ENST00000448689,;LILRB1,missense_variant,p.Leu220Ile,ENST00000396331,;LILRB1,missense_variant,p.Leu220Ile,ENST00000396315,;LILRB1,missense_variant,p.Leu256Ile,ENST00000427581,;LILRB1,missense_variant,p.Leu220Ile,ENST00000396327,;LILRB1,missense_variant,p.Leu220Ile,ENST00000418536,;LILRB1,missense_variant,p.Leu220Ile,ENST00000434867,;LILRB1,missense_variant,p.Leu220Ile,ENST00000324602,;LILRB1,missense_variant,p.Leu220Ile,ENST00000396332,;LILRB1,missense_variant,p.Leu220Ile,ENST00000396321,;AC009892.10,downstream_gene_variant,,ENST00000456337,;AC009892.1,upstream_gene_variant,,ENST00000578908,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Leu220Ile,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	883	98	21	SUCCESS
ZNF211	10520	.	GRCh37	19	58152694	58152694	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	57	0	ENST00000347302.3:c.840T>C	p.Ser280=	p.S280=	ENST00000347302	NM_198855.2	280	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS58686.1	1035	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTGAAGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF201,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000299871	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299871	Transcript	.	.	ENSG00000121417	13003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN211_HUMAN	ZNF211	HGNC	.	.	UPI0000D4CB1A	SNV	ZNF211,synonymous_variant,p.%3D,ENST00000254182,;ZNF211,synonymous_variant,p.%3D,ENST00000420680,;ZNF211,synonymous_variant,p.%3D,ENST00000240731,;ZNF211,synonymous_variant,p.%3D,ENST00000544273,;ZNF211,synonymous_variant,p.%3D,ENST00000541801,;ZNF211,synonymous_variant,p.%3D,ENST00000299871,;ZNF211,synonymous_variant,p.%3D,ENST00000347302,;ZNF211,synonymous_variant,p.%3D,ENST00000391703,;ZNF211,synonymous_variant,p.%3D,ENST00000407202,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;	1166	57	16	SUCCESS
ZNF274	10782	.	GRCh37	19	58698311	58698311	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	44	0	ENST00000326804.4:c.161-3C>T		p.X54_splice	ENST00000326804	NM_133502.2	54		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUSE	.	TTGAGCAGAAC	NONE	.	.	.	.	.	ENSP00000321209	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326804	Transcript	.	.	ENSG00000171606	13068	.	.	LOW	3/8	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN274_HUMAN	ZNF274	HGNC	M0QY30_HUMAN,M0QXW4_HUMAN	.	UPI000013D855	SNV	ZNF274,splice_region_variant,,ENST00000594839,;ZNF274,splice_region_variant,,ENST00000326804,;ZNF274,splice_region_variant,,ENST00000597528,;ZNF274,intron_variant,,ENST00000424679,;ZNF274,intron_variant,,ENST00000345813,;ZNF274,splice_region_variant,,ENST00000595772,;ZNF274,splice_region_variant,,ENST00000600704,;ZNF274,splice_region_variant,,ENST00000597818,;ZNF274,intron_variant,,ENST00000599438,;ZNF274,intron_variant,,ENST00000601777,;ZNF274,upstream_gene_variant,,ENST00000601995,;ZNF274,splice_region_variant,,ENST00000599081,;ZNF274,splice_region_variant,,ENST00000598143,;ZNF274,intron_variant,,ENST00000601156,;ZNF274,downstream_gene_variant,,ENST00000594248,;	.	44	24	SUCCESS
ACSBG2	81616	.	GRCh37	19	6190549	6190549	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	63	0	ENST00000586696.1:c.1928-46T>C		p.*643*	ENST00000586696				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12159.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAATTTTCT	NONE	.	.	.	.	.	ENSP00000465589	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000586696	Transcript	.	.	ENSG00000130377	24174	.	.	MODIFIER	13/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACBG2_HUMAN	ACSBG2	HGNC	K7ESC8_HUMAN,K7ERT0_HUMAN,K7EL11_HUMAN	.	UPI00001414E6	SNV	ACSBG2,intron_variant,,ENST00000586696,;ACSBG2,intron_variant,,ENST00000591403,;ACSBG2,intron_variant,,ENST00000588485,;ACSBG2,intron_variant,,ENST00000252669,;ACSBG2,intron_variant,,ENST00000588304,;RFX2,intron_variant,,ENST00000592883,;RFX2,non_coding_transcript_exon_variant,,ENST00000587700,;RFX2,intron_variant,,ENST00000585324,;RFX2,intron_variant,,ENST00000589712,;ACSBG2,intron_variant,,ENST00000591741,;RFX2,downstream_gene_variant,,ENST00000589641,;RFX2,downstream_gene_variant,,ENST00000589523,;ACSBG2,intron_variant,,ENST00000590132,;	.	63	33	SUCCESS
HIAT1	0	.	GRCh37	1	100542807	100542807	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	34	298	1	ENST00000370152.3:c.978A>G	p.Ala326=	p.A326=	ENST00000370152	NM_033055.2	326	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS763.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCATGGTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF367,hmmpanther:PTHR24003,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000359171	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000370152	Transcript	.	.	ENSG00000156875	23363	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIAT1_HUMAN	HIAT1	HGNC	.	.	UPI0000049F99	SNV	HIAT1,synonymous_variant,p.%3D,ENST00000370152,;RP4-714D9.2,intron_variant,,ENST00000432294,;	1114	299	126	SUCCESS
NBPF10	100132406	.	GRCh37	1	145365361	145365361	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1456517299	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	37	0	ENST00000342960.5:c.9986C>G	p.Pro3329Arg	p.P3329R	ENST00000342960	NM_001039703.5	3329	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	.	9986	MUTECT|VARSCANS	.	AACTCCTTCAG	NONE	.	.	PROSITE_profiles:PS51316,Pfam_domain:PF06758	.	.	ENSP00000345684	.	80/84	.	.	.	.	.	.	.	.	.	80/84	PASS	ENST00000342960	Transcript	.	.	ENSG00000163386	31992	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	.	.	.	NBPF10	HGNC	S4R3H5_HUMAN,A6NDV3_HUMAN	.	UPI0001CE93AE	SNV	NBPF10,missense_variant,p.Pro3329Arg,ENST00000342960,;NBPF10,intron_variant,,ENST00000605176,;NBPF10,intron_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369339,;NBPF10,intron_variant,,ENST00000369338,;NBPF10,downstream_gene_variant,,ENST00000490598,;	10021	37	24	SUCCESS
PSMD4	5710	.	GRCh37	1	151237944	151237944	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	33	196	1	ENST00000368884.3:c.513G>T	p.Val171=	p.V171=	ENST00000368884	NM_002810.2	171	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS991.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGACAGT	NONE	.	.	SMART_domains:SM00327,Gene3D:3.40.50.410,hmmpanther:PTHR10223,PROSITE_profiles:PS50234	.	.	ENSP00000357879	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000368884	Transcript	.	.	ENSG00000159352	9561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMD4_HUMAN	PSMD4	HGNC	A6PVX3_HUMAN	.	UPI0000038DA5	SNV	PSMD4,synonymous_variant,p.%3D,ENST00000368884,;PSMD4,synonymous_variant,p.%3D,ENST00000368881,;PSMD4,synonymous_variant,p.%3D,ENST00000437736,;PSMD4,intron_variant,,ENST00000445776,;PSMD4,upstream_gene_variant,,ENST00000453615,;PSMD4,downstream_gene_variant,,ENST00000469786,;PSMD4,non_coding_transcript_exon_variant,,ENST00000491857,;PSMD4,non_coding_transcript_exon_variant,,ENST00000462970,;PSMD4,non_coding_transcript_exon_variant,,ENST00000476855,;PSMD4,upstream_gene_variant,,ENST00000470396,;PSMD4,upstream_gene_variant,,ENST00000427779,;PSMD4,downstream_gene_variant,,ENST00000461434,;	593	197	98	SUCCESS
CRTC2	200186	.	GRCh37	1	153920974	153920974	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	138	0	ENST00000368633.1:c.1821C>T	p.His607=	p.H607=	ENST00000368633	NM_181715.2	607	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS30875.1	1821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGTGGGT	NONE	.	.	hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589	.	.	ENSP00000357622	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000368633	Transcript	.	.	ENSG00000160741	27301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRTC2_HUMAN	CRTC2	HGNC	Q8WZ18_HUMAN,Q8N332_HUMAN	.	UPI00001A9468	SNV	CRTC2,synonymous_variant,p.%3D,ENST00000368633,;CRTC2,synonymous_variant,p.%3D,ENST00000368630,;DENND4B,upstream_gene_variant,,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000361217,;DENND4B,upstream_gene_variant,,ENST00000472932,;CRTC2,downstream_gene_variant,,ENST00000476883,;CRTC2,3_prime_UTR_variant,,ENST00000303569,;CRTC2,3_prime_UTR_variant,,ENST00000461638,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,downstream_gene_variant,,ENST00000467860,;CRTC2,downstream_gene_variant,,ENST00000524997,;CRTC2,downstream_gene_variant,,ENST00000493909,;	1949	138	81	SUCCESS
LMNA	4000	.	GRCh37	1	156100406	156100406	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs113610699	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	83	0	ENST00000368300.4:c.357-2A>G		p.X119_splice	ENST00000368300	NM_170707.3	119		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1129.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTAGCAAT	NONE	byCluster	.	.	.	.	ENSP00000357283	.	.	.	.	.	.	.	.	.	.	rs113610699	.	PASS	ENST00000368300	Transcript	.	.	ENSG00000160789	6636	.	.	HIGH	1/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMNA_HUMAN	LMNA	HGNC	Q5I6Y5_HUMAN	.	UPI000012E20D	SNV	LMNA,splice_acceptor_variant,,ENST00000392353,;LMNA,splice_acceptor_variant,,ENST00000368299,;LMNA,splice_acceptor_variant,,ENST00000347559,;LMNA,splice_acceptor_variant,,ENST00000368301,;LMNA,splice_acceptor_variant,,ENST00000473598,;LMNA,splice_acceptor_variant,,ENST00000368297,;LMNA,splice_acceptor_variant,,ENST00000448611,;LMNA,splice_acceptor_variant,,ENST00000504687,;LMNA,splice_acceptor_variant,,ENST00000361308,;LMNA,splice_acceptor_variant,,ENST00000368300,;LMNA,splice_acceptor_variant,,ENST00000502357,;LMNA,splice_acceptor_variant,,ENST00000502751,;LMNA,splice_acceptor_variant,,ENST00000469565,;LMNA,intron_variant,,ENST00000470199,;LMNA,upstream_gene_variant,,ENST00000496738,;LMNA,splice_acceptor_variant,,ENST00000515459,;LMNA,upstream_gene_variant,,ENST00000515824,;LMNA,upstream_gene_variant,,ENST00000368298,;	.	83	47	SUCCESS
BCAN	63827	.	GRCh37	1	156616630	156616630	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	95	0	ENST00000329117.5:c.129G>A	p.Ala43=	p.A43=	ENST00000329117	NM_021948.4	43	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1149.1	129	RADIA|MUTECT|MUSE|VARSCANS	.	GACGCGCCACT	NONE	.	.	hmmpanther:PTHR22804,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409	.	.	ENSP00000331210	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,synonymous_variant,p.%3D,ENST00000361588,;BCAN,synonymous_variant,p.%3D,ENST00000441358,;BCAN,synonymous_variant,p.%3D,ENST00000457777,;BCAN,synonymous_variant,p.%3D,ENST00000329117,;BCAN,intron_variant,,ENST00000424639,;RP11-284F21.7,non_coding_transcript_exon_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,synonymous_variant,p.%3D,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000491823,;	465	95	50	SUCCESS
HSPA6	3310	.	GRCh37	1	161494890	161494890	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs373442940	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	99	0	ENST00000309758.4:c.442G>C	p.Val148Leu	p.V148L	ENST00000309758	NM_002155.3	148	Gtg/Ctg	0	T:0	.	.	.	.	C	V/L	protein_coding	YES	CCDS1231.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCGTGCCC	NONE	byCluster	.	Prints_domain:PR00301,Superfamily_domains:SSF53067,Gene3D:3.30.420.40,Pfam_domain:PF00012,hmmpanther:PTHR19375:SF168,hmmpanther:PTHR19375	.	T:0.0001	ENSP00000310219	.	1/1	.	.	.	.	.	.	.	.	rs373442940	1/1	PASS	ENST00000309758	Transcript	.	.	ENSG00000173110	5239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious_low_confidence(0)	.	HSP76_HUMAN	HSPA6	HGNC	.	.	UPI0000074238	SNV	HSPA6,missense_variant,p.Val148Leu,ENST00000309758,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;	855	99	62	SUCCESS
MST1L	11223	.	GRCh37	1	17085353	17085353	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	4	172	0	ENST00000389184.2:n.1209G>A		p.*403*	ENST00000389184				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	TAGCACCAGGG	NONE	.	.	.	.	.	.	.	13/20	.	.	.	.	.	.	.	.	.	13/20	PASS	ENST00000389184	Transcript	.	.	ENSG00000186715	7390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MST1L	HGNC	.	.	.	SNV	MST1L,non_coding_transcript_exon_variant,,ENST00000455405,;CROCC,intron_variant,,ENST00000466256,;MST1L,downstream_gene_variant,,ENST00000545160,;MST1L,upstream_gene_variant,,ENST00000544155,;MST1L,non_coding_transcript_exon_variant,,ENST00000442552,;MST1L,non_coding_transcript_exon_variant,,ENST00000389184,;	1209	172	62	SUCCESS
TNR	7143	.	GRCh37	1	175306706	175306707	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	97	0	ENST00000263525.2:c.3491dup	p.Leu1164PhefsTer6	p.L1164Ffs*6	ENST00000263525	NM_003285.2	1164	tta/ttTa	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS1318.1	3491-3492	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTGTAATTT	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496	.	.	ENSP00000356646	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	insertion	TNR,frameshift_variant,p.Leu1164PhefsTer6,ENST00000367674,;TNR,frameshift_variant,p.Leu1164PhefsTer6,ENST00000263525,;RP3-518E13.2,downstream_gene_variant,,ENST00000569593,;	4200-4201	97	62	SUCCESS
ACBD6	84320	.	GRCh37	1	180471523	180471523	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	23	0	ENST00000367595.3:c.-122G>C		p.*41*	ENST00000367595	NM_032360.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1339.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCTCAGT	NONE	.	.	.	.	.	ENSP00000356567	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000367595	Transcript	.	.	ENSG00000135847	23339	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACBD6_HUMAN	ACBD6	HGNC	.	.	UPI0000039B39	SNV	ACBD6,5_prime_UTR_variant,,ENST00000367595,;	567	23	16	SUCCESS
PPP1R15B	84919	.	GRCh37	1	204380351	204380351	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762933941	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	81	0	ENST00000367188.4:c.189G>T	p.Trp63Cys	p.W63C	ENST00000367188	NM_032833.3	63	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS1445.1	189	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGTCCAGTA	NONE	byFrequency	.	hmmpanther:PTHR16489:SF9,hmmpanther:PTHR16489,Pfam_domain:PF10472	.	.	ENSP00000356156	.	1/2	.	.	.	.	.	.	.	.	rs762933941	1/2	PASS	ENST00000367188	Transcript	.	.	ENSG00000158615	14951	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	PR15B_HUMAN	PPP1R15B	HGNC	.	.	UPI000013DF8B	SNV	PPP1R15B,missense_variant,p.Trp63Cys,ENST00000367188,;RP11-739N20.2,intron_variant,,ENST00000443515,;	569	81	71	SUCCESS
CR2	1380	.	GRCh37	1	207647181	207647181	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	116	0	ENST00000367058.3:c.2014C>T	p.Leu672Phe	p.L672F	ENST00000367058	NM_001877.4	672	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS31007.1	2191	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAACTTCCA	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,SMART_domains:SM00032	.	.	ENSP00000356024	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.76)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Leu645Phe,ENST00000458541,;CR2,missense_variant,p.Leu731Phe,ENST00000367057,;CR2,missense_variant,p.Leu672Phe,ENST00000367058,;CR2,missense_variant,p.Leu672Phe,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000475194,;	2380	117	77	SUCCESS
PLXNA2	5362	.	GRCh37	1	208219347	208219347	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	105	0	ENST00000367033.3:c.3371A>C	p.Asn1124Thr	p.N1124T	ENST00000367033	NM_025179.3	1124	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS31013.1	3371	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGTTAAAG	NONE	.	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,SMART_domains:SM00429,Superfamily_domains:SSF81296	.	.	ENSP00000356000	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,missense_variant,p.Asn1124Thr,ENST00000367033,;	4129	105	56	SUCCESS
RCOR3	55758	.	GRCh37	1	211451497	211451497	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	13	99	0	ENST00000367005.4:c.381C>G	p.Tyr127Ter	p.Y127*	ENST00000367005	NM_018254.3	127	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS44312.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTACTATTC	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000413929	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,stop_gained,p.Tyr185Ter,ENST00000452621,;RCOR3,stop_gained,p.Tyr127Ter,ENST00000533469,;RCOR3,stop_gained,p.Tyr185Ter,ENST00000367006,;RCOR3,stop_gained,p.Tyr185Ter,ENST00000419091,;RCOR3,stop_gained,p.Tyr127Ter,ENST00000367005,;RCOR3,downstream_gene_variant,,ENST00000534478,;RCOR3,upstream_gene_variant,,ENST00000534460,;RCOR3,stop_gained,p.Tyr217Ter,ENST00000528926,;RCOR3,3_prime_UTR_variant,,ENST00000529572,;	683	99	81	SUCCESS
HEATR1	55127	.	GRCh37	1	236751283	236751283	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1410513432	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	221	0	ENST00000366582.3:c.1591A>G	p.Ile531Val	p.I531V	ENST00000366582	NM_018072.5	531	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31066.1	1591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTATATTAT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR13457:SF1,hmmpanther:PTHR13457	.	.	ENSP00000355541	.	13/45	.	.	.	.	.	.	.	.	.	13/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.77)	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	SNV	HEATR1,missense_variant,p.Ile531Val,ENST00000366581,;HEATR1,missense_variant,p.Ile531Val,ENST00000366582,;	1706	221	109	SUCCESS
AHCTF1	25909	.	GRCh37	1	247014692	247014692	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	218	0	ENST00000326225.3:c.4643A>G	p.Asn1548Ser	p.N1548S	ENST00000326225	NM_015446.4	1548	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS1629.2	4643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGATTCCTA	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.66)	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,missense_variant,p.Asn1539Ser,ENST00000391829,;AHCTF1,missense_variant,p.Asn1574Ser,ENST00000366508,;AHCTF1,missense_variant,p.Asn1548Ser,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,upstream_gene_variant,,ENST00000498601,;	4740	218	118	SUCCESS
GMEB1	10691	.	GRCh37	1	29040743	29040743	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	139	0	ENST00000294409.2:c.1180T>C	p.Ser394Pro	p.S394P	ENST00000294409	NM_006582.3	394	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS327.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTTCTCCT	NONE	.	.	hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF3,Low_complexity_(Seg):seg	.	.	ENSP00000294409	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000294409	Transcript	.	.	ENSG00000162419	4370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.419)	.	deleterious(0.04)	.	GMEB1_HUMAN	GMEB1	HGNC	.	.	UPI000012B8AB	SNV	GMEB1,missense_variant,p.Ser394Pro,ENST00000294409,;GMEB1,missense_variant,p.Ser384Pro,ENST00000373816,;GMEB1,missense_variant,p.Ser384Pro,ENST00000361872,;GMEB1,non_coding_transcript_exon_variant,,ENST00000480454,;	1270	139	65	SUCCESS
EPHA10	284656	.	GRCh37	1	38185617	38185617	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	25	91	0	ENST00000373048.4:c.2526T>C	p.Phe842=	p.F842=	ENST00000373048	NM_001099439.1	842	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS41305.1	2526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAAAGGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000362139	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000373048	Transcript	.	.	ENSG00000183317	19987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHAA_HUMAN	EPHA10	HGNC	.	.	UPI00001A41BD	SNV	EPHA10,synonymous_variant,p.%3D,ENST00000373048,;EPHA10,synonymous_variant,p.%3D,ENST00000330210,;EPHA10,synonymous_variant,p.%3D,ENST00000427468,;EPHA10,3_prime_UTR_variant,,ENST00000540011,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,synonymous_variant,p.%3D,ENST00000534097,;EPHA10,3_prime_UTR_variant,,ENST00000437645,;EPHA10,3_prime_UTR_variant,,ENST00000432874,;EPHA10,downstream_gene_variant,,ENST00000453577,;EPHA10,upstream_gene_variant,,ENST00000444950,;	2526	91	45	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55144944	55144944	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	17	195	0	ENST00000414150.2:c.2058A>T	p.Gly686=	p.G686=	ENST00000414150		686	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41342.2	2058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGAGACTT	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9,Superfamily_domains:SSF48371	.	.	ENSP00000396622	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,synonymous_variant,p.%3D,ENST00000454855,;MROH7,synonymous_variant,p.%3D,ENST00000409996,;MROH7,synonymous_variant,p.%3D,ENST00000395690,;MROH7,synonymous_variant,p.%3D,ENST00000421030,;MROH7,synonymous_variant,p.%3D,ENST00000545244,;MROH7,synonymous_variant,p.%3D,ENST00000339553,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000414150,;MROH7,synonymous_variant,p.%3D,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;	2343	195	67	SUCCESS
VAMP3	9341	.	GRCh37	1	7837247	7837247	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	106	0	ENST00000054666.6:c.100G>A	p.Asp34Asn	p.D34N	ENST00000054666	NM_004781.3	34	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS88.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGGACAAG	NONE	.	.	PROSITE_profiles:PS50892,hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF78,PROSITE_patterns:PS00417,Pfam_domain:PF00957,Gene3D:2kogA00,PIRSF_domain:PIRSF005409,Superfamily_domains:SSF58038,Prints_domain:PR00219	.	.	ENSP00000054666	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000054666	Transcript	.	.	ENSG00000049245	12644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious_low_confidence(0.02)	.	VAMP3_HUMAN	VAMP3	HGNC	Q6FGG2_HUMAN,K7EKX0_HUMAN	.	UPI00001380F2	SNV	VAMP3,missense_variant,p.Asp6Asn,ENST00000470357,;VAMP3,missense_variant,p.Asp34Asn,ENST00000054666,;RP3-467L1.6,downstream_gene_variant,,ENST00000602406,;VAMP3,non_coding_transcript_exon_variant,,ENST00000487194,;	215	106	38	SUCCESS
CSRP2BP	0	.	GRCh37	20	18165423	18165423	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs776227052	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	81	0	ENST00000435364.3:c.2162A>G	p.Tyr721Cys	p.Y721C	ENST00000435364	NM_020536.4	721	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13133.1	2162	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTATCATC	NONE	byFrequency	.	Superfamily_domains:SSF55729,Gene3D:3.40.630.30,Pfam_domain:PF00583,hmmpanther:PTHR20916,hmmpanther:PTHR20916:SF0,PROSITE_profiles:PS51186	.	.	ENSP00000392318	.	9/10	.	.	.	.	.	.	.	.	rs776227052	9/10	PASS	ENST00000435364	Transcript	.	.	ENSG00000149474	15904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CSR2B_HUMAN	CSRP2BP	HGNC	D6RAU4_HUMAN	.	UPI000013DB91	SNV	CSRP2BP,missense_variant,p.Tyr720Cys,ENST00000377681,;CSRP2BP,missense_variant,p.Tyr593Cys,ENST00000489634,;CSRP2BP,missense_variant,p.Tyr721Cys,ENST00000435364,;	2503	81	54	SUCCESS
DDRGK1	65992	.	GRCh37	20	3171873	3171873	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	64	0	ENST00000354488.3:c.741T>A	p.Asn247Lys	p.N247K	ENST00000354488	NM_023935.1	247	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS13050.1	741	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCGATTTAT	NONE	.	.	hmmpanther:PTHR13270,hmmpanther:PTHR13270:SF4,Pfam_domain:PF09756,Gene3D:1.10.10.10,Superfamily_domains:SSF46785	.	.	ENSP00000346483	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000354488	Transcript	.	.	ENSG00000198171	16110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.03)	.	DDRGK_HUMAN	DDRGK1	HGNC	.	.	UPI0000001C9A	SNV	DDRGK1,missense_variant,p.Asn247Lys,ENST00000354488,;DDRGK1,downstream_gene_variant,,ENST00000380201,;DDRGK1,non_coding_transcript_exon_variant,,ENST00000496781,;DDRGK1,intron_variant,,ENST00000470203,;	799	64	35	SUCCESS
AHCY	191	.	GRCh37	20	32891086	32891086	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	128	0	ENST00000217426.2:c.-10T>A		p.*4*	ENST00000217426	NM_000687.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13233.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCACTCGT	NONE	.	.	.	.	.	ENSP00000217426	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000217426	Transcript	1	.	ENSG00000101444	343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAHH_HUMAN	AHCY	HGNC	Q1RMG2_HUMAN	.	UPI00001354F1	SNV	AHCY,5_prime_UTR_variant,,ENST00000217426,;AHCY,intron_variant,,ENST00000538132,;AHCY,upstream_gene_variant,,ENST00000468908,;AHCY,upstream_gene_variant,,ENST00000473516,;AHCY,non_coding_transcript_exon_variant,,ENST00000480653,;AHCY,non_coding_transcript_exon_variant,,ENST00000606061,;	69	128	61	SUCCESS
ITSN1	6453	.	GRCh37	21	35134244	35134244	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772892155	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	205	0	ENST00000381318.3:c.742A>G	p.Ile248Val	p.I248V	ENST00000381318	NM_003024.2	248	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33545.1	742	MUTECT|MUSE	.	GAACTATTCTT	NONE	byFrequency	.	PROSITE_profiles:PS50031,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00027,Superfamily_domains:SSF47473	.	.	ENSP00000370719	.	9/40	.	.	.	.	.	.	.	.	rs772892155	9/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.34)	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,missense_variant,p.Ile248Val,ENST00000381285,;ITSN1,missense_variant,p.Ile211Val,ENST00000399353,;ITSN1,missense_variant,p.Ile248Val,ENST00000399349,;ITSN1,missense_variant,p.Ile248Val,ENST00000399352,;ITSN1,missense_variant,p.Ile248Val,ENST00000381318,;ITSN1,missense_variant,p.Ile188Val,ENST00000381283,;ITSN1,missense_variant,p.Ile248Val,ENST00000399338,;ITSN1,missense_variant,p.Ile248Val,ENST00000399326,;ITSN1,missense_variant,p.Ile248Val,ENST00000399355,;ITSN1,missense_variant,p.Ile248Val,ENST00000381291,;ITSN1,missense_variant,p.Ile248Val,ENST00000399367,;ITSN1,missense_variant,p.Ile248Val,ENST00000437442,;ITSN1,missense_variant,p.Ile248Val,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,non_coding_transcript_exon_variant,,ENST00000488166,;	1030	205	91	SUCCESS
PCNT	5116	.	GRCh37	21	47744106	47744106	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs766797294	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	33	0	ENST00000359568.5:c.-37C>A		p.*13*	ENST00000359568	NM_006031.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33592.1	.	MUTECT|MUSE	.	AGCCCCGTCAC	NONE	byFrequency	.	.	.	.	ENSP00000352572	.	1/47	.	.	.	.	.	.	.	.	rs766797294	1/47	PASS	ENST00000359568	Transcript	.	.	ENSG00000160299	16068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCNT_HUMAN	PCNT	HGNC	.	.	UPI00001AEB88	SNV	PCNT,5_prime_UTR_variant,,ENST00000359568,;C21orf58,upstream_gene_variant,,ENST00000397685,;C21orf58,upstream_gene_variant,,ENST00000445935,;C21orf58,upstream_gene_variant,,ENST00000397682,;C21orf58,upstream_gene_variant,,ENST00000291691,;C21orf58,upstream_gene_variant,,ENST00000397680,;C21orf58,upstream_gene_variant,,ENST00000397683,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,;PCNT,upstream_gene_variant,,ENST00000480896,;C21orf58,upstream_gene_variant,,ENST00000475776,;	71	33	11	SUCCESS
TTC28	23331	.	GRCh37	22	28378235	28378235	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	117	0	ENST00000397906.2:c.7420A>G	p.Arg2474Gly	p.R2474G	ENST00000397906	NM_001145418.1	2474	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46678.1	7420	RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTTCCTG	NONE	.	.	.	.	.	ENSP00000381003	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000397906	Transcript	.	.	ENSG00000100154	29179	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.135)	.	deleterious_low_confidence(0.01)	.	TTC28_HUMAN	TTC28	HGNC	.	.	UPI00003E58F8	SNV	TTC28,missense_variant,p.Arg2474Gly,ENST00000397906,;TTC28,downstream_gene_variant,,ENST00000431039,;TTC28-AS1,intron_variant,,ENST00000435348,;TTC28-AS1,intron_variant,,ENST00000454741,;TTC28-AS1,intron_variant,,ENST00000434221,;TTC28-AS1,intron_variant,,ENST00000430853,;TTC28-AS1,intron_variant,,ENST00000452612,;TTC28-AS1,intron_variant,,ENST00000424161,;TTC28-AS1,intron_variant,,ENST00000419253,;TTC28-AS1,intron_variant,,ENST00000417497,;TTC28-AS1,intron_variant,,ENST00000425112,;TTC28-AS1,intron_variant,,ENST00000453632,;TTC28-AS1,intron_variant,,ENST00000454996,;TTC28-AS1,intron_variant,,ENST00000430525,;TTC28,downstream_gene_variant,,ENST00000480563,;	7562	117	54	SUCCESS
TTC38	55020	.	GRCh37	22	46671305	46671305	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	83	0	ENST00000381031.3:c.526A>G	p.Ile176Val	p.I176V	ENST00000381031	NM_017931.2	176	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43030.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACATCCCC	NONE	.	.	hmmpanther:PTHR16263:SF4,hmmpanther:PTHR16263,Gene3D:1.25.40.10	.	.	ENSP00000370419	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000381031	Transcript	.	.	ENSG00000075234	26082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.79)	.	TTC38_HUMAN	TTC38	HGNC	.	.	UPI0000470C96	SNV	TTC38,missense_variant,p.Ile176Val,ENST00000421359,;TTC38,missense_variant,p.Ile176Val,ENST00000381031,;TTC38,intron_variant,,ENST00000445282,;TTC38,missense_variant,p.Ile127Val,ENST00000422713,;TTC38,downstream_gene_variant,,ENST00000417709,;	602	83	25	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125192135	125192135	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	148	0	ENST00000431078.1:c.604A>T	p.Lys202Ter	p.K202*	ENST00000431078	NM_130773.3	202	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS46401.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCAAAGAT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,stop_gained,p.Lys202Ter,ENST00000431078,;	968	148	60	SUCCESS
POTEE	445582	.	GRCh37	2	132020969	132020969	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	92	437	0	ENST00000356920.5:c.1941A>C	p.Glu647Asp	p.E647D	ENST00000356920	NM_001083538.1	647	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS46414.1	1941	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAAAATAG	NONE	.	.	hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118	.	.	ENSP00000439189	.	15/15	.	.	.	.	.	.	.	.	COSM715763	15/15	PASS	ENST00000356920	Transcript	.	.	ENSG00000188219	33895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.585)	.	deleterious_low_confidence(0)	1	POTEE_HUMAN	POTEE	HGNC	.	.	UPI0000F58EC8	SNV	POTEE,missense_variant,p.Glu647Asp,ENST00000356920,;POTEE,3_prime_UTR_variant,,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	2035	437	197	SUCCESS
NBAS	51594	.	GRCh37	2	15523423	15523423	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	23	206	0	ENST00000281513.5:c.3276G>A	p.Glu1092=	p.E1092=	ENST00000281513	NM_015909.3	1092	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS1685.1	3276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGACTCACT	NONE	.	.	Pfam_domain:PF08314,hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	29/52	.	.	.	.	.	.	.	.	.	29/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,synonymous_variant,p.%3D,ENST00000441750,;NBAS,synonymous_variant,p.%3D,ENST00000281513,;NBAS,synonymous_variant,p.%3D,ENST00000441755,;NBAS,synonymous_variant,p.%3D,ENST00000442506,;	3302	206	133	SUCCESS
PLA2R1	22925	.	GRCh37	2	160808016	160808016	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	69	279	0	ENST00000283243.7:c.3375T>A	p.Thr1125=	p.T1125=	ENST00000283243	NM_001195641.1	1125	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS33309.1	3375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAAGTTCT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000283243	.	24/30	.	.	.	.	.	.	.	.	.	24/30	PASS	ENST00000283243	Transcript	.	.	ENSG00000153246	9042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLA2R_HUMAN	PLA2R1	HGNC	.	.	UPI00001AEA9D	SNV	PLA2R1,synonymous_variant,p.%3D,ENST00000283243,;PLA2R1,synonymous_variant,p.%3D,ENST00000392771,;	3582	279	165	SUCCESS
SCN7A	6332	.	GRCh37	2	167319005	167319005	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	97	0	ENST00000409855.1:c.977G>C	p.Gly326Ala	p.G326A	ENST00000409855	NM_002976.3	326	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS46442.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGCCAGCT	NONE	.	.	Pfam_domain:PF00520,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,missense_variant,p.Gly326Ala,ENST00000409855,;SCN7A,missense_variant,p.Gly326Ala,ENST00000441411,;SCN7A,missense_variant,p.Gly326Ala,ENST00000419992,;SCN7A,missense_variant,p.Gly326Ala,ENST00000424326,;SCN7A,non_coding_transcript_exon_variant,,ENST00000497562,;	1104	97	46	SUCCESS
HOXD1	3231	.	GRCh37	2	177054752	177054752	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	8	128	0	ENST00000331462.4:c.869A>G	p.Glu290Gly	p.E290G	ENST00000331462	NM_024501.2	290	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS2271.1	869	MUTECT|MUSE	.	ACGAGAAGGGC	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF183,SMART_domains:SM00389	.	.	ENSP00000328598	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331462	Transcript	.	.	ENSG00000128645	5132	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	HXD1_HUMAN	HOXD1	HGNC	.	.	UPI000012CF80	SNV	HOXD1,missense_variant,p.Glu290Gly,ENST00000331462,;HOXD-AS1,upstream_gene_variant,,ENST00000436126,;HOXD-AS1,upstream_gene_variant,,ENST00000452365,;HOXD-AS1,upstream_gene_variant,,ENST00000417086,;HOXD-AS1,upstream_gene_variant,,ENST00000425005,;HOXD-AS1,upstream_gene_variant,,ENST00000413969,;	1092	128	99	SUCCESS
FKBP7	51661	.	GRCh37	2	179343059	179343059	+	synonymous_variant	Silent	SNP	T	T	C	rs773054038	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	8	134	0	ENST00000424785.2:c.168A>G	p.Leu56=	p.L56=	ENST00000424785	NM_001135212.1	56	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS2280.1	168	MUTECT|MUSE	.	GCATTTAGTAG	NONE	byFrequency	.	PROSITE_profiles:PS50059,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF21,Gene3D:3.10.50.40,Pfam_domain:PF00254,Superfamily_domains:SSF54534	.	.	ENSP00000413152	.	1/4	.	.	.	.	.	.	.	.	rs773054038	1/4	PASS	ENST00000424785	Transcript	.	.	ENSG00000079150	3723	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FKBP7_HUMAN	FKBP7	HGNC	.	.	UPI000002A9BC	SNV	FKBP7,synonymous_variant,p.%3D,ENST00000434643,;FKBP7,synonymous_variant,p.%3D,ENST00000424785,;PLEKHA3,upstream_gene_variant,,ENST00000234453,;FKBP7,non_coding_transcript_exon_variant,,ENST00000470945,;FKBP7,non_coding_transcript_exon_variant,,ENST00000464248,;PLEKHA3,upstream_gene_variant,,ENST00000461474,;FKBP7,synonymous_variant,p.%3D,ENST00000233092,;FKBP7,synonymous_variant,p.%3D,ENST00000419184,;FKBP7,synonymous_variant,p.%3D,ENST00000435079,;FKBP7,upstream_gene_variant,,ENST00000412612,;PLEKHA3,upstream_gene_variant,,ENST00000453653,;	227	134	114	SUCCESS
MSTN	2660	.	GRCh37	2	190924808	190924808	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	77	129	0	ENST00000260950.4:c.727G>A	p.Gly243Arg	p.G243R	ENST00000260950	NM_005259.2	243	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2303.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCTGGGA	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF13,Pfam_domain:PF00688	.	.	ENSP00000260950	.	2/3	.	.	.	.	.	.	.	.	COSM1669606	2/3	PASS	ENST00000260950	Transcript	.	.	ENSG00000138379	4223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.003)	.	tolerated(0.38)	1	GDF8_HUMAN	MSTN	HGNC	Q53S46_HUMAN	.	UPI0000037254	SNV	MSTN,missense_variant,p.Gly243Arg,ENST00000260950,;C2orf88,intron_variant,,ENST00000495546,;C2orf88,intron_variant,,ENST00000478197,;	860	129	133	SUCCESS
SPEG	10290	.	GRCh37	2	220333678	220333678	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	65	0	ENST00000312358.7:c.3399C>T	p.Leu1133=	p.L1133=	ENST00000312358	NM_005876.4	1133	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS42824.1	3399	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCTATGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000311684	.	12/41	.	.	.	.	.	.	.	.	.	12/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,synonymous_variant,p.%3D,ENST00000312358,;SPEG,downstream_gene_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000396688,;SPEG,downstream_gene_variant,,ENST00000396686,;SPEG,downstream_gene_variant,,ENST00000396689,;SPEG,downstream_gene_variant,,ENST00000396698,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000498378,;SPEG,downstream_gene_variant,,ENST00000496786,;SPEG,downstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000464989,;SPEG,downstream_gene_variant,,ENST00000475921,;SPEG,upstream_gene_variant,,ENST00000485069,;	3531	65	27	SUCCESS
PSMD1	5707	.	GRCh37	2	231936937	231936937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	180	0	ENST00000308696.6:c.689G>T	p.Ser230Ile	p.S230I	ENST00000308696	NM_002807.3	230	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS2482.1	689	RADIA|MUTECT|MUSE	.	TGTGAGTGATA	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947	.	.	ENSP00000309474	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.536)	.	deleterious(0)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Ser230Ile,ENST00000409643,;PSMD1,missense_variant,p.Ser230Ile,ENST00000373635,;PSMD1,missense_variant,p.Ser230Ile,ENST00000308696,;PSMD1,intron_variant,,ENST00000444007,;PSMD1,downstream_gene_variant,,ENST00000440838,;PSMD1,3_prime_UTR_variant,,ENST00000431051,;	851	180	76	SUCCESS
PSMD1	5707	.	GRCh37	2	231936939	231936939	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	181	0	ENST00000308696.6:c.691G>T	p.Asp231Tyr	p.D231Y	ENST00000308696	NM_002807.3	231	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2482.1	691	RADIA|MUTECT|MUSE	.	TGAGTGATATC	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947	.	.	ENSP00000309474	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.805)	.	deleterious(0.01)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Asp231Tyr,ENST00000409643,;PSMD1,missense_variant,p.Asp231Tyr,ENST00000373635,;PSMD1,missense_variant,p.Asp231Tyr,ENST00000308696,;PSMD1,intron_variant,,ENST00000444007,;PSMD1,downstream_gene_variant,,ENST00000440838,;PSMD1,3_prime_UTR_variant,,ENST00000431051,;	853	181	75	SUCCESS
TTC27	55622	.	GRCh37	2	32891709	32891709	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	85	0	ENST00000317907.4:c.813G>T	p.Leu271Phe	p.L271F	ENST00000317907	NM_017735.4	271	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33176.1	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTGGGAAA	NONE	.	.	hmmpanther:PTHR16193	.	.	ENSP00000313953	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000317907	Transcript	.	.	ENSG00000018699	25986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	TTC27_HUMAN	TTC27	HGNC	C9JVS4_HUMAN,B4DRC7_HUMAN	.	UPI0000208226	SNV	TTC27,missense_variant,p.Leu271Phe,ENST00000317907,;TTC27,intron_variant,,ENST00000454690,;	1044	85	34	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43922295	43922295	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	23	456	0	ENST00000282406.4:c.434A>G	p.Asn145Ser	p.N145S	ENST00000282406	NM_172069.3	145	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS1812.1	434	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAATCAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3	.	.	ENSP00000282406	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.14)	.	deleterious(0.01)	.	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,missense_variant,p.Asn145Ser,ENST00000282406,;PLEKHH2,3_prime_UTR_variant,,ENST00000491692,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000460356,;	544	456	239	SUCCESS
MSH6	2956	.	GRCh37	2	48027047	48027047	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	74	0	ENST00000234420.5:c.1925A>G	p.Tyr642Cys	p.Y642C	ENST00000234420	NM_000179.2	642	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1836.1	1925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATATTTTA	NONE	.	.	hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,Pfam_domain:PF05188,PIRSF_domain:PIRSF037677	.	.	ENSP00000234420	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000234420	Transcript	.	.	ENSG00000116062	7329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MSH6_HUMAN	MSH6	HGNC	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN	.	UPI00000405F8	SNV	MSH6,missense_variant,p.Tyr340Cys,ENST00000538136,;MSH6,missense_variant,p.Tyr642Cys,ENST00000234420,;MSH6,missense_variant,p.Tyr512Cys,ENST00000540021,;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000420813,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;	2077	74	33	SUCCESS
DYSF	8291	.	GRCh37	2	71827927	71827927	+	synonymous_variant	Silent	SNP	G	G	A	rs139983909	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	44	0	ENST00000258104.3:c.3798G>A	p.Pro1266=	p.P1266=	ENST00000258104	NM_003494.3	1266	ccG/ccA	0	A:0	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS46328.1	3852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGTCGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	A:0.001	A:0.0005	ENSP00000386881	A:0	34/56	.	.	.	.	.	.	.	.	rs139983909	34/56	PASS	ENST00000410020	Transcript	.	A:0.0004	ENSG00000135636	3097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,synonymous_variant,p.%3D,ENST00000410020,;DYSF,synonymous_variant,p.%3D,ENST00000394120,;DYSF,synonymous_variant,p.%3D,ENST00000409366,;DYSF,synonymous_variant,p.%3D,ENST00000258104,;DYSF,synonymous_variant,p.%3D,ENST00000409582,;DYSF,synonymous_variant,p.%3D,ENST00000429174,;DYSF,synonymous_variant,p.%3D,ENST00000409744,;DYSF,synonymous_variant,p.%3D,ENST00000409762,;DYSF,synonymous_variant,p.%3D,ENST00000410041,;DYSF,synonymous_variant,p.%3D,ENST00000409651,;DYSF,synonymous_variant,p.%3D,ENST00000413539,;DYSF,non_coding_transcript_exon_variant,,ENST00000493767,;DYSF,non_coding_transcript_exon_variant,,ENST00000475076,;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;DYSF,upstream_gene_variant,,ENST00000487180,;DYSF,upstream_gene_variant,,ENST00000472873,;DYSF,upstream_gene_variant,,ENST00000494501,;	3993	44	16	SUCCESS
DNAH6	1768	.	GRCh37	2	84844030	84844030	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	123	75	304	0	ENST00000237449.6:c.3496A>T	p.Asn1166Tyr	p.N1166Y	ENST00000237449		1166	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS46348.1	3496	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAAACAAT	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000374045	.	23/77	.	.	.	.	.	.	.	.	.	23/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Asn1166Tyr,ENST00000237449,;DNAH6,missense_variant,p.Asn1166Tyr,ENST00000398278,;DNAH6,missense_variant,p.Asn1166Tyr,ENST00000389394,;	3633	305	199	SUCCESS
POLR1A	25885	.	GRCh37	2	86333149	86333149	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	30	0	ENST00000263857.6:c.-250G>T		p.*84*	ENST00000263857				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42706.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCATTTA	NONE	.	.	.	.	.	ENSP00000263857	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000263857	Transcript	.	.	ENSG00000068654	17264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPA1_HUMAN	POLR1A	HGNC	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN	.	UPI0000D7DB86	SNV	POLR1A,5_prime_UTR_variant,,ENST00000409681,;POLR1A,5_prime_UTR_variant,,ENST00000263857,;PTCD3,upstream_gene_variant,,ENST00000409277,;PTCD3,upstream_gene_variant,,ENST00000409783,;PTCD3,upstream_gene_variant,,ENST00000254630,;PTCD3,upstream_gene_variant,,ENST00000465560,;PTCD3,upstream_gene_variant,,ENST00000488801,;PTCD3,upstream_gene_variant,,ENST00000473829,;POLR1A,upstream_gene_variant,,ENST00000409024,;PTCD3,upstream_gene_variant,,ENST00000409326,;PTCD3,upstream_gene_variant,,ENST00000483925,;POLR1A,upstream_gene_variant,,ENST00000424089,;PTCD3,upstream_gene_variant,,ENST00000418628,;POLR1A,upstream_gene_variant,,ENST00000486964,;	130	30	18	SUCCESS
DZIP3	9666	.	GRCh37	3	108347953	108347953	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756961133	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	13	133	0	ENST00000361582.3:c.626T>C	p.Ile209Thr	p.I209T	ENST00000361582	NM_014648.3	209	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS2952.1	626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATTGGAG	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	8/33	.	.	.	.	.	.	.	.	rs756961133	8/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.01)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.Ile125Thr,ENST00000486815,;DZIP3,missense_variant,p.Ile209Thr,ENST00000479138,;DZIP3,missense_variant,p.Ile209Thr,ENST00000463306,;DZIP3,missense_variant,p.Ile209Thr,ENST00000361582,;DZIP3,missense_variant,p.Ile209Thr,ENST00000495008,;	856	133	74	SUCCESS
SLC15A2	6565	.	GRCh37	3	121641941	121641941	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770820890	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	178	0	ENST00000489711.1:c.922C>A	p.Pro308Thr	p.P308T	ENST00000489711	NM_021082.3	308	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3007.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCCCATTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11654:SF15,hmmpanther:PTHR11654,Pfam_domain:PF00854,TIGRFAM_domain:TIGR00926,Superfamily_domains:SSF103473	.	.	ENSP00000417085	.	10/22	.	.	.	.	.	.	.	.	rs770820890	10/22	PASS	ENST00000489711	Transcript	.	.	ENSG00000163406	10921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	S15A2_HUMAN	SLC15A2	HGNC	C9IZ38_HUMAN	.	UPI000013E27D	SNV	SLC15A2,missense_variant,p.Pro277Thr,ENST00000295605,;SLC15A2,missense_variant,p.Pro308Thr,ENST00000489711,;AC072031.1,upstream_gene_variant,,ENST00000581491,;SLC15A2,non_coding_transcript_exon_variant,,ENST00000489886,;SLC15A2,upstream_gene_variant,,ENST00000489957,;	1310	178	91	SUCCESS
TIMP4	7079	.	GRCh37	3	12195209	12195209	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	53	0	ENST00000287814.4:c.481A>G	p.Thr161Ala	p.T161A	ENST00000287814	NM_003256.3	161	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS2608.1	481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTGATCT	NONE	.	.	hmmpanther:PTHR11844:SF8,hmmpanther:PTHR11844,Pfam_domain:PF00965,Gene3D:2e2dC01,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000287814	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000287814	Transcript	.	.	ENSG00000157150	11823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	deleterious(0.04)	.	TIMP4_HUMAN	TIMP4	HGNC	.	.	UPI0000136FA3	SNV	TIMP4,missense_variant,p.Thr161Ala,ENST00000287814,;SYN2,intron_variant,,ENST00000432424,;SYN2,intron_variant,,ENST00000426379,;SYN2,upstream_gene_variant,,ENST00000447752,;SYN2,downstream_gene_variant,,ENST00000424884,;SYN2,intron_variant,,ENST00000439861,;	992	53	40	SUCCESS
HEG1	57493	.	GRCh37	3	124732258	124732258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	103	0	ENST00000311127.4:c.2165C>A	p.Ser722Tyr	p.S722Y	ENST00000311127	NM_020733.1	722	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS46898.1	2165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGGATACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24037:SF2,hmmpanther:PTHR24037	.	.	ENSP00000311502	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000311127	Transcript	.	.	ENSG00000173706	29227	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	HEG1_HUMAN	HEG1	HGNC	.	.	UPI00006C069B	SNV	HEG1,missense_variant,p.Ser722Tyr,ENST00000311127,;HEG1,downstream_gene_variant,,ENST00000477536,;HEG1,upstream_gene_variant,,ENST00000488654,;	2233	103	52	SUCCESS
KBTBD12	166348	.	GRCh37	3	127702969	127702969	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	16	162	0	ENST00000405109.1:c.1720T>C	p.Leu574=	p.L574=	ENST00000405109		574	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33848.2	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATTGGAA	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,Pfam_domain:PF01344,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000385957	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000405109	Transcript	.	.	ENSG00000187715	25731	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTBC_HUMAN	KBTBD12	HGNC	B5MCZ4_HUMAN	.	UPI00001D802F	SNV	KBTBD12,synonymous_variant,p.%3D,ENST00000405256,;KBTBD12,synonymous_variant,p.%3D,ENST00000405109,;KBTBD12,synonymous_variant,p.%3D,ENST00000343941,;KBTBD12,synonymous_variant,p.%3D,ENST00000407609,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000476626,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000492025,;	2187	162	85	SUCCESS
DNAJC19	131118	.	GRCh37	3	180704791	180704791	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1577025087	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	187	0	ENST00000382564.2:c.149A>G	p.Tyr50Cys	p.Y50C	ENST00000382564	NM_145261.3	50	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS33895.1	149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTATAATAG	NONE	.	.	hmmpanther:PTHR12763,hmmpanther:PTHR12763:SF8	.	.	ENSP00000372005	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000382564	Transcript	.	.	ENSG00000205981	30528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	deleterious(0.04)	.	TIM14_HUMAN	DNAJC19	HGNC	.	.	UPI000006CD5D	SNV	DNAJC19,missense_variant,p.Tyr50Cys,ENST00000486355,;DNAJC19,missense_variant,p.Tyr25Cys,ENST00000491873,;DNAJC19,missense_variant,p.Tyr50Cys,ENST00000382564,;DNAJC19,missense_variant,p.Tyr25Cys,ENST00000479269,;FXR1,downstream_gene_variant,,ENST00000357559,;SOX2-OT,upstream_gene_variant,,ENST00000487240,;SOX2-OT,upstream_gene_variant,,ENST00000461063,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000478723,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000485675,;DNAJC19,intron_variant,,ENST00000469657,;DNAJC19,downstream_gene_variant,,ENST00000472504,;DNAJC19,downstream_gene_variant,,ENST00000482363,;	320	187	117	SUCCESS
XIRP1	165904	.	GRCh37	3	39230338	39230338	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs752756564	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	49	0	ENST00000340369.3:c.599T>C	p.Leu200Pro	p.L200P	ENST00000340369	NM_194293.2	200	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2683.1	599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAGCGGC	NONE	byFrequency	.	PROSITE_profiles:PS51389,hmmpanther:PTHR22591,Pfam_domain:PF08043	.	.	ENSP00000343140	.	2/2	.	.	.	.	.	.	.	.	rs752756564	2/2	PASS	ENST00000340369	Transcript	.	.	ENSG00000168334	14301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	XIRP1_HUMAN	XIRP1	HGNC	.	.	UPI00001BFB06	SNV	XIRP1,missense_variant,p.Leu200Pro,ENST00000396251,;XIRP1,missense_variant,p.Leu200Pro,ENST00000340369,;XIRP1,intron_variant,,ENST00000421646,;	828	49	23	SUCCESS
SETD2	29072	.	GRCh37	3	47098371	47098371	+	synonymous_variant	Silent	SNP	T	T	C	rs774810866	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	28	205	0	ENST00000409792.3:c.6903A>G	p.Thr2301=	p.T2301=	ENST00000409792	NM_014159.6	2301	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS2749.2	6903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACATGTCTG	NONE	.	.	.	.	.	ENSP00000386759	.	15/21	.	.	.	.	.	.	.	.	rs774810866	15/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,synonymous_variant,p.%3D,ENST00000409792,;SETD2,3_prime_UTR_variant,,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;	6946	205	103	SUCCESS
JAGN1	84522	.	GRCh37	3	9934999	9934999	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	49	227	0	ENST00000307768.4:c.490T>C	p.Tyr164His	p.Y164H	ENST00000307768	NM_032492.3	164	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS2588.1	490	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGTACTAC	NONE	.	.	hmmpanther:PTHR20955,Pfam_domain:PF07086	.	.	ENSP00000306106	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307768	Transcript	.	.	ENSG00000171135	26926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	JAGN1_HUMAN	JAGN1	HGNC	.	.	UPI0000072A5A	SNV	JAGN1,missense_variant,p.Tyr164His,ENST00000307768,;JAGN1,downstream_gene_variant,,ENST00000489724,;	659	227	141	SUCCESS
UBE2D3	7323	.	GRCh37	4	103747665	103747665	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	87	0	ENST00000321805.7:c.1A>G	p.Met1?	p.M1?	ENST00000321805	NM_181887.2	1	Atg/Gtg	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3659.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCATAGTGT	NONE	.	.	.	.	.	ENSP00000349722	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357194	Transcript	.	.	ENSG00000109332	12476	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2D3_HUMAN	UBE2D3	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN	.	UPI00001B31EA	SNV	UBE2D3,start_lost,p.Met1?,ENST00000508238,;UBE2D3,start_lost,p.Met1?,ENST00000453744,;UBE2D3,start_lost,p.Met1?,ENST00000502690,;UBE2D3,start_lost,p.Met1?,ENST00000321805,;UBE2D3,start_lost,p.Met1?,ENST00000349311,;UBE2D3,start_lost,p.Met1?,ENST00000343106,;UBE2D3,start_lost,p.Met1?,ENST00000338145,;UBE2D3,start_lost,p.Met1?,ENST00000394804,;UBE2D3,start_lost,p.Met1?,ENST00000394801,;UBE2D3,start_lost,p.Met1?,ENST00000394803,;UBE2D3,start_lost,p.Met1?,ENST00000508249,;UBE2D3,intron_variant,,ENST00000357194,;UBE2D3,upstream_gene_variant,,ENST00000502404,;UBE2D3,upstream_gene_variant,,ENST00000505207,;UBE2D3,upstream_gene_variant,,ENST00000508476,;UBE2D3,upstream_gene_variant,,ENST00000350435,;UBE2D3,upstream_gene_variant,,ENST00000504211,;UBE2D3,upstream_gene_variant,,ENST00000507845,;RP11-10L12.4,upstream_gene_variant,,ENST00000501133,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000513098,;UBE2D3,start_lost,p.Met1?,ENST00000505307,;UBE2D3,start_lost,p.Met1?,ENST00000503418,;UBE2D3,start_lost,p.Met1?,ENST00000508974,;UBE2D3,start_lost,p.Met1?,ENST00000502563,;UBE2D3,start_lost,p.Met1?,ENST00000514755,;UBE2D3,start_lost,p.Met1?,ENST00000510129,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503742,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508818,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503282,;UBE2D3,upstream_gene_variant,,ENST00000508635,;	.	87	25	SUCCESS
CEP170P1	645455	.	GRCh37	4	119461401	119461401	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	118	0	ENST00000412784.2:n.298C>A		p.*100*	ENST00000412784				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCTCAAC	NONE	.	.	.	.	.	.	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000412784	Transcript	.	.	ENSG00000154608	28364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CEP170P1	HGNC	.	.	.	SNV	CEP170P1,non_coding_transcript_exon_variant,,ENST00000412784,;CEP170P1,non_coding_transcript_exon_variant,,ENST00000450306,;CEP170P1,non_coding_transcript_exon_variant,,ENST00000502249,;	298	118	36	SUCCESS
CCRN4L	0	.	GRCh37	4	139965791	139965791	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	44	0	ENST00000280614.2:c.461-2A>T		p.X154_splice	ENST00000280614	NM_012118.3	154		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3743.1	.	RADIA|MUTECT|MUSE	.	TTTTCAGCTCT	NONE	.	.	.	.	.	ENSP00000280614	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000280614	Transcript	.	.	ENSG00000151014	14254	.	.	HIGH	2/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOCT_HUMAN	CCRN4L	HGNC	.	.	UPI000013DC2C	SNV	CCRN4L,splice_acceptor_variant,,ENST00000280614,;ELF2,intron_variant,,ENST00000515489,;CCRN4L,splice_acceptor_variant,,ENST00000515616,;	.	44	9	SUCCESS
NAA15	80155	.	GRCh37	4	140299908	140299908	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	192	0	ENST00000296543.5:c.2057-2A>G		p.X686_splice	ENST00000296543	NM_057175.3	686		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43270.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGAAAA	NONE	.	.	.	.	.	ENSP00000296543	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296543	Transcript	1	.	ENSG00000164134	30782	.	.	HIGH	16/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA15_HUMAN	NAA15	HGNC	.	.	UPI000004B631	SNV	NAA15,splice_acceptor_variant,,ENST00000296543,;NAA15,splice_acceptor_variant,,ENST00000398947,;NAA15,splice_acceptor_variant,,ENST00000496716,;	.	192	62	SUCCESS
EDNRA	1909	.	GRCh37	4	148463734	148463734	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	53	0	ENST00000324300.5:c.1248C>T	p.Asn416=	p.N416=	ENST00000324300	NM_001957.3	416	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS3769.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CACAACACAGA	NONE	.	.	hmmpanther:PTHR24243:SF31,hmmpanther:PTHR24243,Prints_domain:PR00570	.	.	ENSP00000315011	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000324300	Transcript	1	.	ENSG00000151617	3179	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EDNRA_HUMAN	EDNRA	HGNC	.	.	UPI00000503F9	SNV	EDNRA,synonymous_variant,p.%3D,ENST00000511804,;EDNRA,synonymous_variant,p.%3D,ENST00000358556,;EDNRA,synonymous_variant,p.%3D,ENST00000324300,;EDNRA,synonymous_variant,p.%3D,ENST00000506066,;EDNRA,3_prime_UTR_variant,,ENST00000339690,;EDNRA,non_coding_transcript_exon_variant,,ENST00000503721,;EDNRA,3_prime_UTR_variant,,ENST00000510697,;	1763	53	16	SUCCESS
FAM200B	285550	.	GRCh37	4	15688494	15688494	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	44	0	ENST00000422728.2:c.-107A>G		p.*36*	ENST00000422728	NM_001145191.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47028.1	.	MUTECT|MUSE	.	CTTTGAGTGTA	NONE	.	.	.	.	.	ENSP00000393017	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000422728	Transcript	.	.	ENSG00000237765	27740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F200B_HUMAN	FAM200B	HGNC	D6RAC6_HUMAN	.	UPI0000160C4C	SNV	FAM200B,5_prime_UTR_variant,,ENST00000503617,;FAM200B,5_prime_UTR_variant,,ENST00000422728,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504137,;FAM200B,intron_variant,,ENST00000515697,;FAM200B,intron_variant,,ENST00000504598,;FAM200B,intron_variant,,ENST00000504823,;FAM200B,intron_variant,,ENST00000515430,;FAM200B,intron_variant,,ENST00000506610,;FAM200B,intron_variant,,ENST00000505260,;FAM200B,intron_variant,,ENST00000502856,;FAM200B,intron_variant,,ENST00000510186,;FAM200B,intron_variant,,ENST00000507305,;FAM200B,intron_variant,,ENST00000513053,;FAM200B,intron_variant,,ENST00000508567,;FAM200B,intron_variant,,ENST00000512855,;FAM200B,intron_variant,,ENST00000510920,;FAM200B,intron_variant,,ENST00000503600,;FAM200B,downstream_gene_variant,,ENST00000502502,;FAM200B,downstream_gene_variant,,ENST00000509022,;FAM200B,downstream_gene_variant,,ENST00000514803,;FAM200B,downstream_gene_variant,,ENST00000510032,;FAM200B,downstream_gene_variant,,ENST00000507992,;	732	44	33	SUCCESS
WDR17	116966	.	GRCh37	4	177071048	177071048	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766631214	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	357	0	ENST00000280190.4:c.2060C>A	p.Thr687Asn	p.T687N	ENST00000280190		687	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS3825.1	2060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCACTCCTG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344	.	.	ENSP00000280190	.	15/31	.	.	.	.	.	.	.	.	rs766631214,COSM3428353	15/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.557)	.	tolerated(0.22)	0,1	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,missense_variant,p.Thr670Asn,ENST00000507824,;WDR17,missense_variant,p.Thr687Asn,ENST00000280190,;WDR17,missense_variant,p.Thr663Asn,ENST00000508596,;WDR17,missense_variant,p.Thr663Asn,ENST00000393643,;WDR17,upstream_gene_variant,,ENST00000443118,;	2216	357	119	SUCCESS
GRK4	2868	.	GRCh37	4	2965787	2965787	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	91	1	ENST00000398052.4:c.-11G>T		p.*4*	ENST00000398052	NM_182982.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33946.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GCGGCGGCGCC	NONE	.	.	.	.	.	ENSP00000381129	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000398052	Transcript	.	.	ENSG00000125388	4543	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRK4_HUMAN	GRK4	HGNC	.	.	UPI000042B0BE	SNV	GRK4,synonymous_variant,p.%3D,ENST00000442472,;GRK4,5_prime_UTR_variant,,ENST00000345167,;GRK4,5_prime_UTR_variant,,ENST00000398052,;GRK4,5_prime_UTR_variant,,ENST00000398051,;GRK4,5_prime_UTR_variant,,ENST00000504933,;GRK4,5_prime_UTR_variant,,ENST00000503518,;NOP14,upstream_gene_variant,,ENST00000416614,;NOP14,upstream_gene_variant,,ENST00000398071,;NOP14,upstream_gene_variant,,ENST00000502735,;NOP14,upstream_gene_variant,,ENST00000314262,;NOP14-AS1,downstream_gene_variant,,ENST00000503709,;	333	92	48	SUCCESS
GRK4	2868	.	GRCh37	4	3015469	3015470	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs375862689	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	63	0	ENST00000398052.4:c.664dup	p.Arg222LysfsTer8	p.R222Kfs*8	ENST00000398052	NM_182982.2	219	caa/cAaa	0	.	A:0.003	.	A:0	.	A	Q/QX	protein_coding	YES	CCDS33946.1	655-656	INDELOCATOR|VARSCANI	.	AGCTACAAAAA	CODON|p.R222fs*2|c.656delA|6	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF14,hmmpanther:PTHR24355,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	A:0	.	ENSP00000381129	A:0	8/16	.	.	.	.	.	.	.	.	rs556199273,COSM1179565	8/16	PASS	ENST00000398052	Transcript	.	A:0.0008	ENSG00000125388	4543	9	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	A:0	.	0,1	GRK4_HUMAN	GRK4	HGNC	.	.	UPI000042B0BE	insertion	GRK4,frameshift_variant,p.Arg190LysfsTer8,ENST00000345167,;GRK4,frameshift_variant,p.Arg222LysfsTer8,ENST00000398052,;GRK4,frameshift_variant,p.Arg190LysfsTer8,ENST00000398051,;GRK4,frameshift_variant,p.Arg222LysfsTer8,ENST00000504933,;	998-999	63	33	SUCCESS
KLB	152831	.	GRCh37	4	39448206	39448206	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	15	32	0	ENST00000257408.4:c.1860G>T	p.Leu620=	p.L620=	ENST00000257408	NM_175737.3	620	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3451.1	1860	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGAGGTA	NONE	.	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,synonymous_variant,p.%3D,ENST00000257408,;Y_RNA,downstream_gene_variant,,ENST00000459360,;	1957	32	21	SUCCESS
KIAA0232	9778	.	GRCh37	4	6862633	6862633	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	10	167	0	ENST00000307659.5:c.524A>G	p.Tyr175Cys	p.Y175C	ENST00000307659	NM_014743.2	175	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS43209.1	524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTATGAAG	NONE	.	.	hmmpanther:PTHR17611,Pfam_domain:PF15376	.	.	ENSP00000303928	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000307659	Transcript	.	.	ENSG00000170871	28992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	K0232_HUMAN	KIAA0232	HGNC	D6REK0_HUMAN	.	UPI000013EC3F	SNV	KIAA0232,missense_variant,p.Tyr175Cys,ENST00000307659,;KIAA0232,missense_variant,p.Tyr175Cys,ENST00000425103,;KIAA0232,non_coding_transcript_exon_variant,,ENST00000503069,;	979	167	81	SUCCESS
AREG	374	.	GRCh37	4	75312480	75312480	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	44	440	0	ENST00000395748.3:c.291T>A	p.Ile97=	p.I97=	ENST00000395748	NM_001657.2	97	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS3565.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTGTCGA	NONE	.	.	hmmpanther:PTHR10740,hmmpanther:PTHR10740:SF12	.	.	ENSP00000379097	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000395748	Transcript	.	.	ENSG00000109321	651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AREG_HUMAN	AREG	HGNC	.	.	UPI0000125A24	SNV	AREG,synonymous_variant,p.%3D,ENST00000502307,;AREG,synonymous_variant,p.%3D,ENST00000264487,;AREG,synonymous_variant,p.%3D,ENST00000395748,;AREG,upstream_gene_variant,,ENST00000511560,;	503	440	139	SUCCESS
AREGB	0	.	GRCh37	4	75482235	75482235	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	146	0	ENST00000380846.3:c.291T>A	p.Ile97=	p.I97=	ENST00000380846		97	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	.	291	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TATATTGTCGA	NONE	.	.	hmmpanther:PTHR10740:SF12,hmmpanther:PTHR10740	.	.	ENSP00000370227	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000380846	Transcript	.	.	ENSG00000205595	34509	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AREG_HUMAN	AREGB	HGNC	.	.	UPI0000125A24	SNV	AREGB,synonymous_variant,p.%3D,ENST00000380846,;AC142293.3,intron_variant,,ENST00000510419,;AREGB,upstream_gene_variant,,ENST00000511772,;	501	146	34	SUCCESS
SOWAHB	345079	.	GRCh37	4	77817982	77817982	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	85	0	ENST00000334306.2:c.1021G>C	p.Glu341Gln	p.E341Q	ENST00000334306	NM_001029870.1	341	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS34017.1	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTCCAAGG	NONE	.	.	hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF3	.	.	ENSP00000334879	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334306	Transcript	.	.	ENSG00000186212	32958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.07)	.	SWAHB_HUMAN	SOWAHB	HGNC	.	.	UPI000019777A	SNV	SOWAHB,missense_variant,p.Glu341Gln,ENST00000334306,;	1021	85	20	SUCCESS
NAA11	84779	.	GRCh37	4	80246710	80246710	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	62	0	ENST00000286794.4:c.322T>C	p.Ser108Pro	p.S108P	ENST00000286794	NM_032693.2	108	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS47084.1	322	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGACACGT	BUFFER|p.H110H|c.330C>T|3	.	.	Superfamily_domains:SSF55729,Gene3D:3.40.630.30,Pfam_domain:PF00583,hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF205,PROSITE_profiles:PS51186	.	.	ENSP00000286794	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000286794	Transcript	.	.	ENSG00000156269	28125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	NAA11_HUMAN	NAA11	HGNC	H0Y8T0_HUMAN	.	UPI00000467CA	SNV	NAA11,missense_variant,p.Ser108Pro,ENST00000286794,;NAA11,upstream_gene_variant,,ENST00000513733,;NAA11,upstream_gene_variant,,ENST00000511542,;	495	62	22	SUCCESS
KLHL8	57563	.	GRCh37	4	88106860	88106860	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	162	0	ENST00000273963.5:c.308C>G	p.Ala103Gly	p.A103G	ENST00000273963	NM_020803.3	103	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS3617.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGCTTCA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF138,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000273963	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000273963	Transcript	.	.	ENSG00000145332	18644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	deleterious(0.03)	.	KLHL8_HUMAN	KLHL8	HGNC	Q49A95_HUMAN	.	UPI00001AE9B8	SNV	KLHL8,missense_variant,p.Ala103Gly,ENST00000512111,;KLHL8,missense_variant,p.Ala103Gly,ENST00000273963,;KLHL8,intron_variant,,ENST00000545252,;KLHL8,intron_variant,,ENST00000498875,;KLHL8,intron_variant,,ENST00000425278,;KLHL8,intron_variant,,ENST00000504029,;KLHL8,intron_variant,,ENST00000505388,;KLHL8,intron_variant,,ENST00000506985,;	650	163	52	SUCCESS
SEC24A	10802	.	GRCh37	5	133997259	133997259	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	68	0	ENST00000398844.2:c.548A>G	p.Asn183Ser	p.N183S	ENST00000398844	NM_021982.2	183	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS43363.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAATAGCT	NONE	.	.	hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1	.	.	ENSP00000381823	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000398844	Transcript	.	.	ENSG00000113615	10703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	deleterious(0.01)	.	SC24A_HUMAN	SEC24A	HGNC	.	.	UPI0000185FF9	SNV	SEC24A,missense_variant,p.Asn183Ser,ENST00000322887,;SEC24A,missense_variant,p.Asn183Ser,ENST00000398844,;	836	68	49	SUCCESS
SEC24A	10802	.	GRCh37	5	134039534	134039535	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	143	48	247	0	ENST00000398844.2:c.2353dup	p.Tyr785LeufsTer13	p.Y785Lfs*13	ENST00000398844	NM_021982.2	784	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS43363.1	2352-2353	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGGTATGC	NONE	.	.	Superfamily_domains:SSF81995,Pfam_domain:PF08033,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1	.	.	ENSP00000381823	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000398844	Transcript	.	.	ENSG00000113615	10703	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC24A_HUMAN	SEC24A	HGNC	.	.	UPI0000185FF9	insertion	SEC24A,frameshift_variant,p.Tyr785LeufsTer13,ENST00000398844,;RNU6-1164P,upstream_gene_variant,,ENST00000364428,;	2640-2641	247	191	SUCCESS
PCDHA6	56142	.	GRCh37	5	140209555	140209555	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	58	0	ENST00000529310.1:c.1879T>C	p.Tyr627His	p.Y627H	ENST00000529310	NM_018909.2	627	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS47281.1	1879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGTACACG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.478)	.	deleterious_low_confidence(0.03)	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,missense_variant,p.Tyr627His,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA7,upstream_gene_variant,,ENST00000378125,;PCDHA7,upstream_gene_variant,,ENST00000525929,;	1993	58	28	SUCCESS
PCDHA8	56140	.	GRCh37	5	140222076	140222076	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	210	0	ENST00000531613.1:c.1170G>A	p.Met390Ile	p.M390I	ENST00000531613	NM_018911.2	390	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS54919.1	1170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGCCCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.05)	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	SNV	PCDHA8,missense_variant,p.Met390Ile,ENST00000531613,;PCDHA8,missense_variant,p.Met390Ile,ENST00000378123,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA9,upstream_gene_variant,,ENST00000532602,;	1170	210	82	SUCCESS
PCDHB15	56121	.	GRCh37	5	140626274	140626274	+	synonymous_variant	Silent	SNP	G	G	T	rs782306616	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	127	1	ENST00000231173.3:c.1128G>T	p.Gly376=	p.G376=	ENST00000231173	NM_018935.2	376	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4257.1	1128	MUSE|VARSCANS	.	TCTGGGGAAAA	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF97,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231173	.	1/1	.	.	.	.	.	.	.	.	rs782306616	1/1	PASS	ENST00000231173	Transcript	.	.	ENSG00000113248	8686	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDBF_HUMAN	PCDHB15	HGNC	.	.	UPI00001273E8	SNV	PCDHB15,synonymous_variant,p.%3D,ENST00000231173,;PCDHB19P,downstream_gene_variant,,ENST00000570871,;	1128	128	57	SUCCESS
RNF145	153830	.	GRCh37	5	158588365	158588365	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1032640038	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	157	0	ENST00000424310.2:c.1535G>A	p.Arg512His	p.R512H	ENST00000424310	NM_001199383.1	512	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS56393.1	1625	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCGGAGA	NONE	.	.	hmmpanther:PTHR12477:SF68,hmmpanther:PTHR12477	.	.	ENSP00000430955	.	10/11	.	.	.	.	.	.	.	.	COSM1264345	10/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	SNV	RNF145,missense_variant,p.Arg529His,ENST00000521606,;RNF145,missense_variant,p.Arg540His,ENST00000274542,;RNF145,missense_variant,p.Arg526His,ENST00000520638,;RNF145,missense_variant,p.Arg512His,ENST00000519865,;RNF145,missense_variant,p.Arg542His,ENST00000518802,;RNF145,missense_variant,p.Arg512His,ENST00000424310,;RNF145,non_coding_transcript_exon_variant,,ENST00000518284,;RNF145,non_coding_transcript_exon_variant,,ENST00000519985,;RNF145,downstream_gene_variant,,ENST00000521266,;RNF145,non_coding_transcript_exon_variant,,ENST00000518062,;	1775	157	68	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159797621	159797621	+	synonymous_variant	Silent	SNP	C	C	A	rs766542748	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	37	0	ENST00000393975.3:c.24G>T	p.Pro8=	p.P8=	ENST00000393975	NM_031908.4	8	ccG/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4351.2	24	RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTCGGCCC	NONE	byFrequency	.	.	.	.	ENSP00000377545	.	1/3	.	.	.	.	.	.	.	.	rs766542748	1/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,synonymous_variant,p.%3D,ENST00000393975,;	28	37	23	SUCCESS
ATP10B	23120	.	GRCh37	5	159992727	159992727	+	synonymous_variant	Silent	SNP	T	T	C	rs528864040	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	77	0	ENST00000327245.5:c.4119A>G	p.Thr1373=	p.T1373=	ENST00000327245	NM_025153.2	1373	acA/acG	0	.	C:0	.	C:0	.	C	T	protein_coding	YES	CCDS43394.1	4119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTGTGAT	NONE	by1000G	.	hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	C:0	.	ENSP00000313600	C:0	26/26	.	.	.	.	.	.	.	.	rs528864040	26/26	PASS	ENST00000327245	Transcript	.	C:0.0002	ENSG00000118322	13543	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,synonymous_variant,p.%3D,ENST00000327245,;	4966	77	44	SUCCESS
RGS14	10636	.	GRCh37	5	176793252	176793252	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs934048446	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	61	0	ENST00000408923.3:c.142A>T	p.Ser48Cys	p.S48C	ENST00000408923	NM_006480.4	48	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS43405.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAGTGGT	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF136	.	.	ENSP00000386229	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000408923	Transcript	.	.	ENSG00000169220	9996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0.02)	.	RGS14_HUMAN	RGS14	HGNC	.	.	UPI0000163BE6	SNV	RGS14,missense_variant,p.Ser48Cys,ENST00000408923,;RGS14,upstream_gene_variant,,ENST00000511890,;RGS14,upstream_gene_variant,,ENST00000506944,;RGS14,upstream_gene_variant,,ENST00000503110,;RGS14,upstream_gene_variant,,ENST00000514102,;RGS14,upstream_gene_variant,,ENST00000504631,;RGS14,upstream_gene_variant,,ENST00000509289,;RGS14,upstream_gene_variant,,ENST00000512490,;RGS14,upstream_gene_variant,,ENST00000512000,;RGS14,upstream_gene_variant,,ENST00000503044,;RGS14,upstream_gene_variant,,ENST00000502731,;RGS14,upstream_gene_variant,,ENST00000514713,;RGS14,upstream_gene_variant,,ENST00000425155,;	330	61	37	SUCCESS
FLT4	2324	.	GRCh37	5	180048202	180048202	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765274674	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	121	0	ENST00000261937.6:c.2071G>A	p.Val691Met	p.V691M	ENST00000261937	NM_182925.4	691	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS4457.1	2071	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACGTTCA	BUFFER|p.S692S|c.2076C>T|3,BUFFER|p.S692S|c.2076C>T|3,BUFFER|p.S502S|c.1506C>T|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000261937	.	14/30	.	.	.	.	.	.	.	.	rs765274674	14/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.02)	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,missense_variant,p.Val691Met,ENST00000502649,;FLT4,missense_variant,p.Val691Met,ENST00000261937,;FLT4,missense_variant,p.Val691Met,ENST00000393347,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	2150	121	51	SUCCESS
RAI14	26064	.	GRCh37	5	34688182	34688182	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	64	0	ENST00000265109.3:c.36+1122A>G		p.*12*	ENST00000265109	NM_015577.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54839.1	.	MUTECT|MUSE	.	ATTAAATAAAA	NONE	.	.	.	.	.	ENSP00000427123	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000515799	Transcript	.	.	ENSG00000039560	14873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAI14_HUMAN	RAI14	HGNC	B3KMZ9_HUMAN	.	UPI00001B296B	SNV	RAI14,5_prime_UTR_variant,,ENST00000515799,;RAI14,intron_variant,,ENST00000512305,;RAI14,intron_variant,,ENST00000508315,;RAI14,intron_variant,,ENST00000514873,;RAI14,intron_variant,,ENST00000428746,;RAI14,intron_variant,,ENST00000504052,;RAI14,intron_variant,,ENST00000514036,;RAI14,intron_variant,,ENST00000512625,;RAI14,intron_variant,,ENST00000514527,;RAI14,intron_variant,,ENST00000506376,;RAI14,intron_variant,,ENST00000265109,;RAI14,intron_variant,,ENST00000513974,;RAI14,intron_variant,,ENST00000512629,;RAI14,intron_variant,,ENST00000503673,;RAI14,intron_variant,,ENST00000511652,;RAI14,upstream_gene_variant,,ENST00000507502,;RAI14,non_coding_transcript_exon_variant,,ENST00000510386,;RAI14,intron_variant,,ENST00000508777,;RAI14,intron_variant,,ENST00000505185,;RAI14,intron_variant,,ENST00000515448,;RAI14,intron_variant,,ENST00000514931,;RAI14,intron_variant,,ENST00000503222,;RAI14,intron_variant,,ENST00000510319,;	366	64	32	SUCCESS
C9	735	.	GRCh37	5	39364569	39364569	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	17	0	ENST00000263408.4:c.-3A>T		p.*1*	ENST00000263408	NM_001737.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3929.1	.	RADIA|MUTECT|MUSE	.	CATGCTGCTCT	NONE	.	.	.	.	.	ENSP00000263408	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000263408	Transcript	1	.	ENSG00000113600	1358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO9_HUMAN	C9	HGNC	Q9UGI4_HUMAN	.	UPI0000001065	SNV	C9,5_prime_UTR_variant,,ENST00000263408,;C9,intron_variant,,ENST00000509186,;C9,intron_variant,,ENST00000483232,;C9,non_coding_transcript_exon_variant,,ENST00000467285,;	94	17	12	SUCCESS
KIAA0947	0	.	GRCh37	5	5462475	5462475	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779793054	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	68	0	ENST00000296564.7:c.3028G>T	p.Val1010Leu	p.V1010L	ENST00000296564	NM_015325.2	1010	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS47187.1	3028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTGTGTCA	NONE	byFrequency	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	rs779793054	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.81)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Val1010Leu,ENST00000296564,;	3250	68	31	SUCCESS
GPR98	0	.	GRCh37	5	89990498	89990498	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	109	0	ENST00000405460.2:c.7925A>G	p.Glu2642Gly	p.E2642G	ENST00000405460	NM_032119.3	2642	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47246.1	7925	MUTECT|MUSE	.	TGGAGAGATTC	SITE|p.E2642G|c.7925A>G|4	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	33/90	.	.	.	.	.	.	.	.	COSM1439079,COSM70966	33/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.001)	.	.	1,1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Glu2642Gly,ENST00000405460,;GPR98,missense_variant,p.Glu208Gly,ENST00000509621,;	8021	109	58	SUCCESS
ERAP1	51752	.	GRCh37	5	96116195	96116195	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781657199	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	55	0	ENST00000443439.2:c.2602T>C	p.Ser868Pro	p.S868P	ENST00000443439	NM_001040458.1	868	Tca/Cca	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS4085.1	2602	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGAGCCAA	NONE	.	.	hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF156,Pfam_domain:PF11838	.	.	ENSP00000296754	.	18/20	.	.	.	.	.	.	.	.	rs781657199	18/20	PASS	ENST00000296754	Transcript	.	.	ENSG00000164307	18173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ERAP1_HUMAN	ERAP1	HGNC	D6RAL9_HUMAN	.	UPI000045731D	SNV	ERAP1,missense_variant,p.Ser47Pro,ENST00000512852,;ERAP1,missense_variant,p.Ser868Pro,ENST00000443439,;ERAP1,missense_variant,p.Ser868Pro,ENST00000296754,;CTD-2260A17.1,upstream_gene_variant,,ENST00000602972,;CTD-2260A17.1,upstream_gene_variant,,ENST00000512856,;ERAP1,downstream_gene_variant,,ENST00000514604,;CAST,downstream_gene_variant,,ENST00000510098,;	2860	55	19	SUCCESS
TMEM14C	51522	.	GRCh37	6	10726176	10726176	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1349565156	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	63	0	ENST00000229563.5:c.134G>T	p.Gly45Val	p.G45V	ENST00000229563	NM_016462.3	45	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS4514.1	134	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGCAGTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12668:SF4,hmmpanther:PTHR12668,Pfam_domain:PF03647	.	.	ENSP00000444561	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000541412	Transcript	.	.	ENSG00000111843	20952	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	TM14C_HUMAN	TMEM14C	HGNC	.	.	UPI000003BBD6	SNV	TMEM14C,missense_variant,p.Gly45Val,ENST00000541412,;TMEM14C,missense_variant,p.Gly45Val,ENST00000229563,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000467415,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000466421,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000495549,;	519	63	26	SUCCESS
OSTM1	28962	.	GRCh37	6	108372287	108372287	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	13	246	0	ENST00000193322.3:c.731T>C	p.Leu244Pro	p.L244P	ENST00000193322	NM_014028.3	244	cTt/cCt	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS5062.1	731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAAGTTCA	NONE	.	.	hmmpanther:PTHR15644:SF1,hmmpanther:PTHR15644,Pfam_domain:PF09777	.	.	ENSP00000193322	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000193322	Transcript	.	.	ENSG00000081087	21652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	.	tolerated(0.09)	.	OSTM1_HUMAN	OSTM1	HGNC	E5RFY7_HUMAN	.	UPI00000472C4	SNV	OSTM1,missense_variant,p.Leu97Pro,ENST00000440575,;OSTM1,missense_variant,p.Leu244Pro,ENST00000193322,;OSTM1,upstream_gene_variant,,ENST00000477774,;OSTM1,upstream_gene_variant,,ENST00000472669,;	817	246	95	SUCCESS
TAAR5	9038	.	GRCh37	6	132910065	132910066	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	60	0	ENST00000258034.2:c.760_761delinsG	p.Leu254GlyfsTer17	p.L254Gfs*17	ENST00000258034	NM_003967.2	254	CTg/Gg	0	.	.	.	.	.	C	L/X	protein_coding	YES	CCDS5156.1	760-761	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ATGCCCAGGGTCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF217,PROSITE_profiles:PS50262	.	.	ENSP00000258034	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000258034	Transcript	.	.	ENSG00000135569	30236	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAAR5_HUMAN	TAAR5	HGNC	.	.	UPI000013CFAA	substitution	TAAR5,frameshift_variant,p.Leu254GlyfsTer17,ENST00000258034,;	812-813	60	41	SUCCESS
GPR126	0	.	GRCh37	6	142623440	142623440	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	49	0	ENST00000230173.6:c.-27A>C		p.*9*	ENST00000230173	NM_020455.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47489.1	.	MUTECT|MUSE	.	GCCAAAGGGGA	NONE	.	.	.	.	.	ENSP00000356581	.	1/25	.	.	.	.	.	.	.	.	.	1/25	PASS	ENST00000367609	Transcript	.	.	ENSG00000112414	13841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GP126_HUMAN	GPR126	HGNC	F5H2L1_HUMAN	.	UPI000022CCE4	SNV	GPR126,5_prime_UTR_variant,,ENST00000367608,;GPR126,5_prime_UTR_variant,,ENST00000296932,;GPR126,5_prime_UTR_variant,,ENST00000367609,;GPR126,5_prime_UTR_variant,,ENST00000230173,;GPR126,upstream_gene_variant,,ENST00000541199,;GPR126,upstream_gene_variant,,ENST00000435011,;GPR126,upstream_gene_variant,,ENST00000545477,;GPR126,non_coding_transcript_exon_variant,,ENST00000415128,;	375	49	27	SUCCESS
PDE10A	10846	.	GRCh37	6	165801928	165801928	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	33	0	ENST00000366882.1:c.1641G>T	p.Leu547=	p.L547=	ENST00000366882		547	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47513.1	1671	MUTECT|MUSE	.	GCAATCAGCAG	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604,Prints_domain:PR00387	.	.	ENSP00000438284	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,synonymous_variant,p.%3D,ENST00000354448,;PDE10A,synonymous_variant,p.%3D,ENST00000539869,;PDE10A,synonymous_variant,p.%3D,ENST00000366882,;	1727	33	13	SUCCESS
KIF25	3834	.	GRCh37	6	168445527	168445527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	65	0	ENST00000354419.2:c.1006G>T	p.Val336Leu	p.V336L	ENST00000354419	NM_030615.2	336	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS5305.1	1006	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGGTGATT	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF327,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000388878	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000443060	Transcript	.	.	ENSG00000125337	6390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	tolerated(0.1)	.	KIF25_HUMAN	KIF25	HGNC	.	.	UPI000012DDAB	SNV	KIF25,missense_variant,p.Val284Leu,ENST00000351261,;KIF25,missense_variant,p.Val336Leu,ENST00000354419,;KIF25,missense_variant,p.Val336Leu,ENST00000443060,;	1397	65	24	SUCCESS
DCDC2	51473	.	GRCh37	6	24205315	24205315	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	14	188	0	ENST00000378454.3:c.938A>C	p.Lys313Thr	p.K313T	ENST00000378454	NM_001195610.1	313	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS4550.1	938	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTTTGAAA	NONE	.	.	hmmpanther:PTHR23004:SF5,hmmpanther:PTHR23004	.	.	ENSP00000367715	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000378454	Transcript	.	.	ENSG00000146038	18141	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.632)	.	deleterious(0.03)	.	DCDC2_HUMAN	DCDC2	HGNC	.	.	UPI000013DA24	SNV	DCDC2,missense_variant,p.Lys66Thr,ENST00000378450,;DCDC2,missense_variant,p.Lys313Thr,ENST00000378454,;	1240	188	117	SUCCESS
ZKSCAN4	387032	.	GRCh37	6	28217606	28217606	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs770870758	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	79	0	ENST00000377294.2:c.430G>C	p.Val144Leu	p.V144L	ENST00000377294	NM_019110.3	144	Gtt/Ctt	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS4647.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACGGGAA	NONE	byFrequency	.	SMART_domains:SM00431,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF57	.	.	ENSP00000366509	.	2/5	.	.	.	.	.	.	.	.	rs770870758	2/5	PASS	ENST00000377294	Transcript	.	.	ENSG00000187626	13854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.14)	.	ZKSC4_HUMAN	ZKSCAN4	HGNC	B7Z7H3_HUMAN	.	UPI000013C355	SNV	ZKSCAN4,missense_variant,p.Val144Leu,ENST00000377294,;ZKSCAN4,5_prime_UTR_variant,,ENST00000423974,;	674	79	42	SUCCESS
OR5V1	81696	.	GRCh37	6	29323799	29323799	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	109	0	ENST00000377154.1:c.174T>A	p.Pro58=	p.P58=	ENST00000377154		58	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS4657.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATAGGTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF0,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000366359	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377154	Transcript	.	.	ENSG00000243729	13972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5V1_HUMAN	OR5V1	HGNC	.	.	UPI000004186B	SNV	OR5V1,synonymous_variant,p.%3D,ENST00000543825,;OR5V1,synonymous_variant,p.%3D,ENST00000377154,;	474	109	55	SUCCESS
OR2H1	26716	.	GRCh37	6	29430101	29430101	+	synonymous_variant	Silent	SNP	C	C	A	rs772213775	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	144	0	ENST00000377132.1:c.555C>A	p.Leu185=	p.L185=	ENST00000377132		185	ctC/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4660.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACTCTCCTG	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF190,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366340	.	4/4	.	.	.	.	.	.	.	.	rs772213775	4/4	PASS	ENST00000377136	Transcript	.	.	ENSG00000204688	8252	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2H1_HUMAN	OR2H1	HGNC	Q8IU63_HUMAN	.	UPI000000DCA7	SNV	OR2H1,synonymous_variant,p.%3D,ENST00000442615,;OR2H1,synonymous_variant,p.%3D,ENST00000377136,;OR2H1,synonymous_variant,p.%3D,ENST00000396792,;OR2H1,synonymous_variant,p.%3D,ENST00000377133,;OR2H1,synonymous_variant,p.%3D,ENST00000377132,;OR2H1,non_coding_transcript_exon_variant,,ENST00000473369,;OR2H1,non_coding_transcript_exon_variant,,ENST00000484554,;OR2H1,downstream_gene_variant,,ENST00000484371,;UBDP1,downstream_gene_variant,,ENST00000457888,;	1020	144	77	SUCCESS
NRM	11270	.	GRCh37	6	30657906	30657906	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	113	0	ENST00000259953.4:c.248A>C	p.Glu83Ala	p.E83A	ENST00000259953	NM_007243.2	83	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS4686.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTTCAGCT	NONE	.	.	Pfam_domain:PF07298,hmmpanther:PTHR31040	.	.	ENSP00000259953	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000259953	Transcript	.	.	ENSG00000137404	8003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.69)	.	NRM_HUMAN	NRM	HGNC	B4DP16_HUMAN	.	UPI0000049DF1	SNV	NRM,missense_variant,p.Glu83Ala,ENST00000376420,;NRM,missense_variant,p.Glu83Ala,ENST00000376421,;NRM,missense_variant,p.Glu83Ala,ENST00000444096,;NRM,missense_variant,p.Glu83Ala,ENST00000259953,;PPP1R18,upstream_gene_variant,,ENST00000399199,;PPP1R18,upstream_gene_variant,,ENST00000274853,;NRM,non_coding_transcript_exon_variant,,ENST00000462857,;NRM,non_coding_transcript_exon_variant,,ENST00000470733,;NRM,non_coding_transcript_exon_variant,,ENST00000495946,;NRM,intron_variant,,ENST00000482141,;NRM,intron_variant,,ENST00000474864,;PPP1R18,upstream_gene_variant,,ENST00000467662,;PPP1R18,upstream_gene_variant,,ENST00000488324,;	600	113	54	SUCCESS
TNXB	7148	.	GRCh37	6	32012931	32012931	+	synonymous_variant	Silent	SNP	C	C	A	rs545042173	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	13	376	0	ENST00000451343.1:c.66G>T	p.Thr22=	p.T22=	ENST00000451343	NM_032470.3	22	acG/acT	0	.	T:0	.	T:0	.	A	T	protein_coding	YES	CCDS4736.1	66	MUTECT|MUSE	.	CCGTTCGTGTC	NONE	by1000G	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	T:0.001	.	ENSP00000407685	T:0	1/13	.	.	.	.	.	.	.	.	rs545042173,COSM1546211,COSM1546213,COSM1546212	1/13	PASS	ENST00000451343	Transcript	.	T:0.0002	ENSG00000168477	11976	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1,1	.	.	.	T:0	.	0,1,1,1	TENX_HUMAN	TNXB	HGNC	B6RHJ5_HUMAN	.	UPI0000000E8E	SNV	TNXB,synonymous_variant,p.%3D,ENST00000375247,;TNXB,synonymous_variant,p.%3D,ENST00000451343,;TNXB,synonymous_variant,p.%3D,ENST00000375244,;CYP21A2,downstream_gene_variant,,ENST00000418967,;CYP21A2,downstream_gene_variant,,ENST00000435122,;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000486063,;TNXB,upstream_gene_variant,,ENST00000498094,;	975	376	236	SUCCESS
PPP2R5D	5528	.	GRCh37	6	42975740	42975740	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	106	0	ENST00000485511.1:c.794T>C	p.Ile265Thr	p.I265T	ENST00000485511	NM_001270476.1	265	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS4878.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCATCTATG	NONE	.	.	hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000417963	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000485511	Transcript	.	.	ENSG00000112640	9312	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	2A5D_HUMAN	PPP2R5D	HGNC	.	.	UPI0000124E92	SNV	PPP2R5D,missense_variant,p.Ile159Thr,ENST00000461010,;PPP2R5D,missense_variant,p.Ile265Thr,ENST00000485511,;PPP2R5D,missense_variant,p.Ile233Thr,ENST00000394110,;PPP2R5D,missense_variant,p.Ile185Thr,ENST00000470467,;PPP2R5D,missense_variant,p.Ile257Thr,ENST00000472118,;PPP2R5D,upstream_gene_variant,,ENST00000486843,;MEA1,downstream_gene_variant,,ENST00000244711,;PPP2R5D,3_prime_UTR_variant,,ENST00000230402,;PPP2R5D,non_coding_transcript_exon_variant,,ENST00000467447,;PPP2R5D,upstream_gene_variant,,ENST00000482315,;	973	107	59	SUCCESS
CRISP2	7180	.	GRCh37	6	49668498	49668498	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	98	0	ENST00000339139.4:c.67-1G>C		p.X23_splice	ENST00000339139	NM_001261822.1	23		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4928.1	.	MUTECT|MUSE|VARSCANS	.	GGATCCTAAAA	NONE	.	.	.	.	.	ENSP00000339155	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339139	Transcript	.	.	ENSG00000124490	12024	.	.	HIGH	4/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CRIS2_HUMAN	CRISP2	HGNC	Q5U8Z9_HUMAN	.	UPI000013728C	SNV	CRISP2,splice_acceptor_variant,,ENST00000339139,;	.	98	58	SUCCESS
PKHD1	5314	.	GRCh37	6	51910819	51910819	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	55	0	ENST00000371117.3:c.2575T>A	p.Leu859Met	p.L859M	ENST00000371117	NM_138694.3	859	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS4935.1	2575	MUTECT|MUSE|VARSCANS	.	GGGCAAATCCC	NONE	.	.	.	.	.	ENSP00000360158	.	24/67	.	.	.	.	.	.	.	.	.	24/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Leu859Met,ENST00000340994,;PKHD1,missense_variant,p.Leu859Met,ENST00000371117,;	2851	55	49	SUCCESS
LMBRD1	55788	.	GRCh37	6	70408942	70408944	+	stop_gained,inframe_deletion	Nonsense_Mutation	DEL	AAG	AAG	-	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	51	0	ENST00000370577.3:c.1329_1331del	p.Tyr443_Leu444delinsTer	p.Y443_L444delins*	ENST00000370577	NM_018368.3	443	taCTTa/taa	0	.	.	.	.	.	-	YL/*	protein_coding	YES	CCDS4969.1	1329-1331	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTATTAAGTAATT	NONE	.	.	hmmpanther:PTHR16130:SF2,hmmpanther:PTHR16130	.	.	ENSP00000359609	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000370577	Transcript	.	.	ENSG00000168216	23038	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMBD1_HUMAN	LMBRD1	HGNC	.	.	UPI000003ED25	deletion	LMBRD1,stop_gained,p.Tyr370_Leu371delinsTer,ENST00000370570,;LMBRD1,stop_gained,p.Tyr443_Leu444delinsTer,ENST00000370577,;LMBRD1,3_prime_UTR_variant,,ENST00000472827,;	1559-1561	51	45	SUCCESS
FAM185A	222234	.	GRCh37	7	102412867	102412867	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	35	335	0	ENST00000413034.2:c.805T>G	p.Leu269Val	p.L269V	ENST00000413034	NM_001145268.1	269	Tta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS47676.1	805	RADIA|MUTECT|MUSE	.	TAACATTACAA	NONE	.	.	Pfam_domain:PF13345	.	.	ENSP00000395340	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000413034	Transcript	.	.	ENSG00000222011	22412	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.059)	.	tolerated(0.49)	.	F185A_HUMAN	FAM185A	HGNC	F8WFC0_HUMAN,C9JFL0_HUMAN	.	UPI0001AE70BB	SNV	FAM185A,missense_variant,p.Leu152Val,ENST00000409231,;FAM185A,missense_variant,p.Leu269Val,ENST00000413034,;FAM185A,non_coding_transcript_exon_variant,,ENST00000487807,;FAM185A,non_coding_transcript_exon_variant,,ENST00000481697,;FAM185A,3_prime_UTR_variant,,ENST00000442873,;FAM185A,3_prime_UTR_variant,,ENST00000420217,;	805	335	195	SUCCESS
FBXL13	222235	.	GRCh37	7	102524745	102524745	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	66	0	ENST00000313221.4:c.1023C>A	p.Gly341=	p.G341=	ENST00000313221	NM_145032.3	341	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS5726.1	1023	MUTECT|MUSE	.	CTGAAGCCTTG	NONE	.	.	hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF219,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000321927	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000313221	Transcript	.	.	ENSG00000161040	21658	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FXL13_HUMAN	FBXL13	HGNC	.	.	UPI000020F830	SNV	FBXL13,synonymous_variant,p.%3D,ENST00000393772,;FBXL13,synonymous_variant,p.%3D,ENST00000313221,;FBXL13,synonymous_variant,p.%3D,ENST00000455112,;FBXL13,synonymous_variant,p.%3D,ENST00000379305,;FBXL13,synonymous_variant,p.%3D,ENST00000436908,;FBXL13,synonymous_variant,p.%3D,ENST00000379308,;FBXL13,intron_variant,,ENST00000379306,;FBXL13,intron_variant,,ENST00000456695,;FBXL13,non_coding_transcript_exon_variant,,ENST00000477915,;FBXL13,synonymous_variant,p.%3D,ENST00000448002,;	1450	66	35	SUCCESS
MET	4233	.	GRCh37	7	116339203	116339203	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs587780739	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	81	0	ENST00000397752.3:c.65G>T	p.Ser22Ile	p.S22I	ENST00000397752	NM_000245.2	22	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47689.1	65	MUTECT|MUSE	uncertain_significance	GAGGAGCAATG	NONE	byFrequency|byCluster	.	Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF000617	.	.	ENSP00000317272	.	2/21	.	.	.	.	.	.	.	.	rs587780739	2/21	PASS	ENST00000318493	Transcript	.	.	ENSG00000105976	7029	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.265)	.	tolerated(0.15)	.	MET_HUMAN	MET	HGNC	Q9UEJ3_HUMAN,B4DPY6_HUMAN	.	UPI000014033E	SNV	MET,missense_variant,p.Ser41Ile,ENST00000456159,;MET,missense_variant,p.Ser22Ile,ENST00000318493,;MET,missense_variant,p.Ser22Ile,ENST00000397752,;MET,missense_variant,p.Ser22Ile,ENST00000436117,;	252	81	44	SUCCESS
ABCB5	340273	.	GRCh37	7	20691108	20691108	+	synonymous_variant	Silent	SNP	G	G	T	rs560906981	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	109	0	ENST00000404938.2:c.1398G>T	p.Val466=	p.V466=	ENST00000404938	NM_001163941.1	466	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS55090.1	1398	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGTGGTTAG	NONE	byCluster	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000384881	.	13/28	.	.	.	.	.	.	.	.	rs560906981,COSM360289	13/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,synonymous_variant,p.%3D,ENST00000443026,;ABCB5,synonymous_variant,p.%3D,ENST00000258738,;ABCB5,synonymous_variant,p.%3D,ENST00000404938,;ABCB5,synonymous_variant,p.%3D,ENST00000406935,;ABCB5,non_coding_transcript_exon_variant,,ENST00000477094,;	2050	109	53	SUCCESS
ABCB5	340273	.	GRCh37	7	20691109	20691109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	108	0	ENST00000404938.2:c.1399G>T	p.Val467Phe	p.V467F	ENST00000404938	NM_001163941.1	467	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS55090.1	1399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGGTTAGT	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000384881	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Val22Phe,ENST00000443026,;ABCB5,missense_variant,p.Val22Phe,ENST00000258738,;ABCB5,missense_variant,p.Val467Phe,ENST00000404938,;ABCB5,missense_variant,p.Val22Phe,ENST00000406935,;ABCB5,non_coding_transcript_exon_variant,,ENST00000477094,;	2051	108	54	SUCCESS
IL6	3569	.	GRCh37	7	22769448	22769448	+	intron_variant	Intron	SNP	T	T	G	rs766623368	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	41	0	ENST00000258743.5:c.471+169T>G		p.*157*	ENST00000258743	NM_000600.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5375.1	.	RADIA|MUTECT|MUSE	.	GTTTGTTTGGT	NONE	.	.	.	.	.	ENSP00000385675	.	.	.	.	.	.	.	.	.	.	rs766623368	.	PASS	ENST00000404625	Transcript	.	.	ENSG00000136244	6018	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL6_HUMAN	IL6	HGNC	Q75MH2_HUMAN,H9C875_HUMAN,C9J5B0_HUMAN,B5MC21_HUMAN	.	UPI000002C4A6	SNV	IL6,3_prime_UTR_variant,,ENST00000420258,;IL6,intron_variant,,ENST00000401630,;IL6,intron_variant,,ENST00000258743,;IL6,intron_variant,,ENST00000404625,;IL6,intron_variant,,ENST00000407492,;IL6,downstream_gene_variant,,ENST00000401651,;IL6,downstream_gene_variant,,ENST00000426291,;IL6,downstream_gene_variant,,ENST00000406575,;AC073072.5,upstream_gene_variant,,ENST00000325042,;IL6,intron_variant,,ENST00000485300,;IL6,downstream_gene_variant,,ENST00000464710,;	.	41	24	SUCCESS
NPSR1	387129	.	GRCh37	7	34867130	34867130	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	142	0	ENST00000360581.1:c.596C>T	p.Ala199Val	p.A199V	ENST00000360581	NM_207172.1	199	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS5443.1	596	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCCTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000352839	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000359791	Transcript	.	.	ENSG00000187258	23631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	tolerated(0.63)	.	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,missense_variant,p.Ala199Val,ENST00000359791,;NPSR1,missense_variant,p.Ala188Val,ENST00000531252,;NPSR1,missense_variant,p.Ala199Val,ENST00000381539,;NPSR1,missense_variant,p.Ala133Val,ENST00000381542,;NPSR1,missense_variant,p.Ala199Val,ENST00000360581,;NPSR1-AS1,intron_variant,,ENST00000436945,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000442669,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1,3_prime_UTR_variant,,ENST00000381544,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;	724	142	39	SUCCESS
UBE2D4	51619	.	GRCh37	7	43982358	43982358	+	intron_variant	Intron	SNP	C	C	T	rs146469919	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	64	0	ENST00000222402.3:c.89-67C>T		p.*30*	ENST00000222402	NM_015983.3			0	T:0	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS5474.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGCGTTTT	NONE	byFrequency|byCluster|by1000G	.	.	T:0.005	T:0.0006	ENSP00000222402	T:0	.	.	.	.	.	.	.	.	.	rs146469919	.	PASS	ENST00000222402	Transcript	.	T:0.0010	ENSG00000078967	21647	.	.	MODIFIER	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	UB2D4_HUMAN	UBE2D4	HGNC	F8WCA2_HUMAN	.	UPI000007403F	SNV	UBE2D4,intron_variant,,ENST00000394798,;UBE2D4,intron_variant,,ENST00000446008,;UBE2D4,intron_variant,,ENST00000222402,;POLR2J4,non_coding_transcript_exon_variant,,ENST00000427076,;UBE2D4,intron_variant,,ENST00000443780,;UBE2D4,intron_variant,,ENST00000454350,;UBE2D4,intron_variant,,ENST00000473007,;UBE2D4,intron_variant,,ENST00000440899,;UBE2D4,intron_variant,,ENST00000440652,;UBE2D4,intron_variant,,ENST00000450743,;UBE2D4,intron_variant,,ENST00000415051,;UBE2D4,intron_variant,,ENST00000454428,;	.	64	26	SUCCESS
NPC1L1	29881	.	GRCh37	7	44578553	44578553	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	133	0	ENST00000289547.4:c.1443T>C	p.Ser481=	p.S481=	ENST00000289547	NM_013389.2	481	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS5491.1	1443	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGACTGGT	NONE	.	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	.	.	ENSP00000289547	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,synonymous_variant,p.%3D,ENST00000546276,;NPC1L1,synonymous_variant,p.%3D,ENST00000381160,;NPC1L1,synonymous_variant,p.%3D,ENST00000423141,;NPC1L1,synonymous_variant,p.%3D,ENST00000289547,;	1499	133	41	SUCCESS
CCM2	83605	.	GRCh37	7	45108142	45108142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	58	0	ENST00000258781.6:c.573G>T	p.Glu191Asp	p.E191D	ENST00000258781	NM_031443.3	191	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS34630.1	636	MUTECT|MUSE	.	GTGGAGGCATG	NONE	.	.	Gene3D:2.30.29.30,hmmpanther:PTHR21642:SF4,hmmpanther:PTHR21642,PROSITE_profiles:PS01179	.	.	ENSP00000370503	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000381112	Transcript	.	.	ENSG00000136280	21708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.036)	.	tolerated(0.14)	.	CCM2_HUMAN	CCM2	HGNC	.	.	UPI0000563237	SNV	CCM2,missense_variant,p.Glu133Asp,ENST00000541586,;CCM2,missense_variant,p.Glu212Asp,ENST00000381112,;CCM2,missense_variant,p.Glu17Asp,ENST00000480382,;CCM2,missense_variant,p.Glu191Asp,ENST00000258781,;CCM2,missense_variant,p.Glu185Asp,ENST00000475551,;CCM2,intron_variant,,ENST00000544363,;CCM2,intron_variant,,ENST00000474617,;CCM2,non_coding_transcript_exon_variant,,ENST00000461377,;CCM2,non_coding_transcript_exon_variant,,ENST00000482714,;CCM2,non_coding_transcript_exon_variant,,ENST00000472223,;CCM2,intron_variant,,ENST00000478582,;CCM2,downstream_gene_variant,,ENST00000476594,;CCM2,downstream_gene_variant,,ENST00000478169,;CCM2,missense_variant,p.Glu191Asp,ENST00000488727,;CCM2,non_coding_transcript_exon_variant,,ENST00000477605,;CCM2,non_coding_transcript_exon_variant,,ENST00000480658,;CCM2,intron_variant,,ENST00000481194,;CCM2,intron_variant,,ENST00000492883,;CCM2,upstream_gene_variant,,ENST00000470837,;	1315	58	11	SUCCESS
GRM3	2913	.	GRCh37	7	86493597	86493597	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	111	0	ENST00000361669.2:c.2567-1G>T		p.X856_splice	ENST00000361669	NM_000840.2	856		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5600.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGCCTCT	NONE	.	.	.	.	.	ENSP00000355316	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361669	Transcript	.	.	ENSG00000198822	4595	.	.	HIGH	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM3_HUMAN	GRM3	HGNC	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN	.	UPI0000153EFC	SNV	GRM3,splice_acceptor_variant,,ENST00000536043,;GRM3,splice_acceptor_variant,,ENST00000439827,;GRM3,splice_acceptor_variant,,ENST00000361669,;GRM3,splice_acceptor_variant,,ENST00000546348,;GRM3,splice_acceptor_variant,,ENST00000394720,;	.	111	70	SUCCESS
PEX1	5189	.	GRCh37	7	92122372	92122372	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	155	0	ENST00000248633.4:c.3102T>G	p.His1034Gln	p.H1034Q	ENST00000248633	NM_000466.2	1034	caT/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS5627.1	3102	RADIA|MUTECT|MUSE	.	GCTACATGCTG	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:1.10.8.60,hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	.	.	ENSP00000248633	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000248633	Transcript	.	.	ENSG00000127980	8850	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.64)	.	PEX1_HUMAN	PEX1	HGNC	Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN	.	UPI0000001C39	SNV	PEX1,missense_variant,p.His1034Gln,ENST00000248633,;PEX1,missense_variant,p.His712Gln,ENST00000438045,;PEX1,missense_variant,p.His977Gln,ENST00000428214,;PEX1,downstream_gene_variant,,ENST00000541751,;AC007566.10,downstream_gene_variant,,ENST00000441539,;AC007566.10,downstream_gene_variant,,ENST00000427458,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,upstream_gene_variant,,ENST00000477342,;PEX1,upstream_gene_variant,,ENST00000469417,;	3198	155	74	SUCCESS
PEX1	5189	.	GRCh37	7	92122387	92122387	+	synonymous_variant	Silent	SNP	A	A	G	rs1484440987	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	11	155	0	ENST00000248633.4:c.3087T>C	p.Asp1029=	p.D1029=	ENST00000248633	NM_000466.2	1029	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS5627.1	3087	RADIA|MUTECT|MUSE	.	TCAACATCATC	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:1.10.8.60,hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	.	.	ENSP00000248633	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000248633	Transcript	.	.	ENSG00000127980	8850	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEX1_HUMAN	PEX1	HGNC	Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN	.	UPI0000001C39	SNV	PEX1,synonymous_variant,p.%3D,ENST00000248633,;PEX1,synonymous_variant,p.%3D,ENST00000438045,;PEX1,synonymous_variant,p.%3D,ENST00000428214,;PEX1,downstream_gene_variant,,ENST00000541751,;AC007566.10,downstream_gene_variant,,ENST00000441539,;AC007566.10,downstream_gene_variant,,ENST00000427458,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,upstream_gene_variant,,ENST00000477342,;PEX1,upstream_gene_variant,,ENST00000469417,;	3183	155	76	SUCCESS
CASD1	64921	.	GRCh37	7	94139422	94139422	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1429617542	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	59	0	ENST00000297273.4:c.26G>T	p.Gly9Val	p.G9V	ENST00000297273	NM_022900.4	9	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5636.1	26	RADIA|MUSE	.	CCTGGGCAAGC	NONE	.	.	hmmpanther:PTHR13533:SF8,hmmpanther:PTHR13533	.	.	ENSP00000297273	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000297273	Transcript	.	.	ENSG00000127995	16014	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	CASD1_HUMAN	CASD1	HGNC	C9JDR3_HUMAN	.	UPI0000070404	SNV	CASD1,missense_variant,p.Gly9Val,ENST00000297273,;CASD1,intron_variant,,ENST00000447923,;CASD1,missense_variant,p.Gly9Val,ENST00000417387,;CASD1,missense_variant,p.Gly9Val,ENST00000443644,;	313	59	23	SUCCESS
NUDCD1	84955	.	GRCh37	8	110283345	110283345	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	20	141	0	ENST00000239690.4:c.1188T>A	p.Asp396Glu	p.D396E	ENST00000239690	NM_032869.3	396	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS6312.1	1188	MUTECT|MUSE|VARSCANS	.	TCTTTATCTGG	NONE	.	.	hmmpanther:PTHR21664	.	.	ENSP00000239690	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000239690	Transcript	.	.	ENSG00000120526	24306	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.62)	.	NUDC1_HUMAN	NUDCD1	HGNC	.	.	UPI000021048A	SNV	NUDCD1,missense_variant,p.Asp396Glu,ENST00000239690,;NUDCD1,missense_variant,p.Asp367Glu,ENST00000427660,;NUDCD1,3_prime_UTR_variant,,ENST00000519607,;NUDCD1,downstream_gene_variant,,ENST00000521439,;	1563	141	213	SUCCESS
TNFRSF11B	4982	.	GRCh37	8	119936661	119936661	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	204	17	143	0	ENST00000297350.4:c.1158A>C	p.Leu386Phe	p.L386F	ENST00000297350	NM_002546.3	386	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS6326.1	1158	MUTECT|MUSE	.	ATTTCTAAAAA	NONE	.	.	hmmpanther:PTHR23097:SF90,hmmpanther:PTHR23097,PIRSF_domain:PIRSF038065,Prints_domain:PR01975	.	.	ENSP00000297350	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000297350	Transcript	1	.	ENSG00000164761	11909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.086)	.	tolerated(0.06)	.	TR11B_HUMAN	TNFRSF11B	HGNC	.	.	UPI0000157F05	SNV	TNFRSF11B,missense_variant,p.Leu386Phe,ENST00000297350,;TNFRSF11B,downstream_gene_variant,,ENST00000521597,;TNFRSF11B,downstream_gene_variant,,ENST00000517352,;	1537	143	221	SUCCESS
TNFRSF11B	4982	.	GRCh37	8	119936683	119936683	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	253	20	170	1	ENST00000297350.4:c.1136A>C	p.Lys379Thr	p.K379T	ENST00000297350	NM_002546.3	379	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS6326.1	1136	MUTECT|MUSE	.	ACAATTTGTAC	NONE	.	.	hmmpanther:PTHR23097:SF90,hmmpanther:PTHR23097,PIRSF_domain:PIRSF038065,Prints_domain:PR01975	.	.	ENSP00000297350	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000297350	Transcript	1	.	ENSG00000164761	11909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.064)	.	deleterious(0)	.	TR11B_HUMAN	TNFRSF11B	HGNC	.	.	UPI0000157F05	SNV	TNFRSF11B,missense_variant,p.Lys379Thr,ENST00000297350,;TNFRSF11B,downstream_gene_variant,,ENST00000521597,;TNFRSF11B,downstream_gene_variant,,ENST00000517352,;	1515	171	273	SUCCESS
TNFRSF11B	4982	.	GRCh37	8	119936888	119936888	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	344	22	233	0	ENST00000297350.4:c.931G>C	p.Asp311His	p.D311H	ENST00000297350	NM_002546.3	311	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS6326.1	931	MUTECT|MUSE	.	AATGTCTTCTG	NONE	.	.	hmmpanther:PTHR23097:SF90,hmmpanther:PTHR23097,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,PIRSF_domain:PIRSF038065,Superfamily_domains:SSF47986	.	.	ENSP00000297350	.	5/5	.	.	.	.	.	.	.	.	COSM1095401,COSM1597454	5/5	PASS	ENST00000297350	Transcript	1	.	ENSG00000164761	11909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	probably_damaging(0.941)	.	deleterious(0)	1,1	TR11B_HUMAN	TNFRSF11B	HGNC	.	.	UPI0000157F05	SNV	TNFRSF11B,missense_variant,p.Asp311His,ENST00000297350,;TNFRSF11B,non_coding_transcript_exon_variant,,ENST00000521597,;TNFRSF11B,downstream_gene_variant,,ENST00000517352,;	1310	233	366	SUCCESS
CHRNA2	1135	.	GRCh37	8	27324790	27324790	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	92	0	ENST00000407991.1:c.405C>A	p.Val135=	p.V135=	ENST00000407991	NM_000742.3	135	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS6059.1	405	RADIA|MUTECT|MUSE	.	GAAGGGACCCT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF83,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00254	.	.	ENSP00000385026	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,synonymous_variant,p.%3D,ENST00000407991,;CHRNA2,synonymous_variant,p.%3D,ENST00000240132,;CHRNA2,synonymous_variant,p.%3D,ENST00000520933,;CHRNA2,downstream_gene_variant,,ENST00000518712,;CHRNA2,downstream_gene_variant,,ENST00000524096,;CHRNA2,downstream_gene_variant,,ENST00000521921,;CHRNA2,downstream_gene_variant,,ENST00000520208,;CHRNA2,synonymous_variant,p.%3D,ENST00000523695,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000522008,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000520650,;	1014	92	15	SUCCESS
NRG1	3084	.	GRCh37	8	31498106	31498106	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	53	0	ENST00000520407.1:c.606C>G	p.Asp202Glu	p.D202E	ENST00000520407	NM_013962.2	202	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	.	.	165	MUTECT|MUSE	.	GAGGACAGCAG	NONE	.	.	hmmpanther:PTHR11100:SF7,hmmpanther:PTHR11100	.	.	ENSP00000429067	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000523534	Transcript	.	.	ENSG00000157168	7997	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.14)	.	deleterious(0.01)	.	.	NRG1	HGNC	H0YBA3_HUMAN	.	UPI0001E8F0FD	SNV	NRG1,missense_variant,p.Asp55Glu,ENST00000523534,;NRG1,missense_variant,p.Asp202Glu,ENST00000520407,;NRG1,intron_variant,,ENST00000518104,;NRG1,intron_variant,,ENST00000519301,;	165	53	8	SUCCESS
CHD7	55636	.	GRCh37	8	61653905	61653905	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	70	0	ENST00000423902.2:c.-87A>G		p.*29*	ENST00000423902	NM_017780.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47865.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTATAGGC	NONE	.	.	.	.	.	ENSP00000392028	.	2/38	.	.	.	.	.	.	.	.	.	2/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,5_prime_UTR_variant,,ENST00000526846,;CHD7,5_prime_UTR_variant,,ENST00000423902,;CHD7,upstream_gene_variant,,ENST00000524602,;CHD7,upstream_gene_variant,,ENST00000525508,;CHD7,upstream_gene_variant,,ENST00000527825,;CHD7,upstream_gene_variant,,ENST00000527900,;	393	70	23	SUCCESS
RUNX1T1	862	.	GRCh37	8	93023275	93023275	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	6	138	0	ENST00000265814.3:c.513A>T	p.Glu171Asp	p.E171D	ENST00000265814	NM_001198628.1	171	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS56544.1	546	MUTECT|MUSE	.	GTAGCTTCTTG	NONE	.	.	PROSITE_profiles:PS51119,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5,Pfam_domain:PF07531,SMART_domains:SM00549,Superfamily_domains:SSF158553,Prints_domain:PR01875	.	.	ENSP00000402257	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.042)	.	tolerated(0.13)	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Glu134Asp,ENST00000422361,;RUNX1T1,missense_variant,p.Glu182Asp,ENST00000436581,;RUNX1T1,missense_variant,p.Glu134Asp,ENST00000360348,;RUNX1T1,missense_variant,p.Glu134Asp,ENST00000521553,;RUNX1T1,missense_variant,p.Glu144Asp,ENST00000518844,;RUNX1T1,missense_variant,p.Glu171Asp,ENST00000523629,;RUNX1T1,missense_variant,p.Glu134Asp,ENST00000520724,;RUNX1T1,missense_variant,p.Glu171Asp,ENST00000518992,;RUNX1T1,missense_variant,p.Glu171Asp,ENST00000265814,;RUNX1T1,missense_variant,p.Glu134Asp,ENST00000521054,;RUNX1T1,missense_variant,p.Glu144Asp,ENST00000396218,;RUNX1T1,downstream_gene_variant,,ENST00000518317,;RUNX1T1,downstream_gene_variant,,ENST00000523168,;RUNX1T1,downstream_gene_variant,,ENST00000517792,;RUNX1T1,downstream_gene_variant,,ENST00000520583,;RUNX1T1,downstream_gene_variant,,ENST00000518832,;RUNX1T1,downstream_gene_variant,,ENST00000522467,;RUNX1T1,downstream_gene_variant,,ENST00000521319,;RUNX1T1,downstream_gene_variant,,ENST00000518823,;RUNX1T1,downstream_gene_variant,,ENST00000520974,;RUNX1T1,downstream_gene_variant,,ENST00000521733,;RUNX1T1,downstream_gene_variant,,ENST00000517919,;RUNX1T1,downstream_gene_variant,,ENST00000519847,;RUNX1T1,downstream_gene_variant,,ENST00000520556,;RUNX1T1,downstream_gene_variant,,ENST00000521375,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000521897,;RUNX1T1,downstream_gene_variant,,ENST00000519422,;RUNX1T1,upstream_gene_variant,,ENST00000520047,;RUNX1T1,downstream_gene_variant,,ENST00000524215,;RUNX1T1,downstream_gene_variant,,ENST00000519577,;	557	138	113	SUCCESS
TNC	3371	.	GRCh37	9	117808755	117808755	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	69	310	0	ENST00000350763.4:c.5059G>A	p.Glu1687Lys	p.E1687K	ENST00000350763	NM_002160.3	1687	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS6811.1	5059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTCGTATT	BUFFER|p.Y1686Y|c.5058C>T|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000265131	.	17/28	.	.	.	.	.	.	.	.	COSM3847462	17/28	PASS	ENST00000350763	Transcript	.	.	ENSG00000041982	5318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.013)	.	tolerated(0.1)	1	TENA_HUMAN	TNC	HGNC	F5H5D6_HUMAN	.	UPI000013D5BD	SNV	TNC,missense_variant,p.Glu1324Lys,ENST00000542877,;TNC,missense_variant,p.Glu250Lys,ENST00000544972,;TNC,missense_variant,p.Glu1141Lys,ENST00000346706,;TNC,missense_variant,p.Glu1505Lys,ENST00000341037,;TNC,missense_variant,p.Glu1687Lys,ENST00000350763,;TNC,missense_variant,p.Glu1232Lys,ENST00000535648,;TNC,missense_variant,p.Glu1323Lys,ENST00000340094,;TNC,intron_variant,,ENST00000345230,;TNC,intron_variant,,ENST00000537320,;TNC,intron_variant,,ENST00000423613,;TNC,non_coding_transcript_exon_variant,,ENST00000473855,;TNC,intron_variant,,ENST00000498724,;TNC,intron_variant,,ENST00000476680,;TNC,downstream_gene_variant,,ENST00000481475,;	5471	310	88	SUCCESS
TTF1	7270	.	GRCh37	9	135277159	135277159	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	41	162	0	ENST00000334270.2:c.1050T>A	p.Pro350=	p.P350=	ENST00000334270	NM_001205296.1	350	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6948.1	1050	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCAGGCAT	NONE	.	.	.	.	.	ENSP00000333920	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000334270	Transcript	.	.	ENSG00000125482	12397	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTF1_HUMAN	TTF1	HGNC	.	.	UPI00001B55A7	SNV	TTF1,synonymous_variant,p.%3D,ENST00000334270,;	1090	162	59	SUCCESS
MELK	9833	.	GRCh37	9	36677291	36677293	+	frameshift_variant	Frame_Shift_Del	DEL	ACA	ACA	CC	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	ACA	ACA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	68	0	ENST00000298048.2:c.1913_1915delinsCC	p.Tyr638SerfsTer4	p.Y638Sfs*4	ENST00000298048	NM_014791.3	638	tACAaa/tCCaa	0	.	.	.	.	.	CC	YK/SX	protein_coding	YES	CCDS6606.1	1913-1915	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGGTTTACAAAAGA	NONE	.	.	Superfamily_domains:SSF103243,Pfam_domain:PF02149,Gene3D:3.30.310.80,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343,PROSITE_profiles:PS50032	.	.	ENSP00000298048	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000298048	Transcript	.	.	ENSG00000165304	16870	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MELK_HUMAN	MELK	HGNC	A7BG63_HUMAN	.	UPI000004776B	substitution	MELK,frameshift_variant,p.Tyr590SerfsTer4,ENST00000536860,;MELK,frameshift_variant,p.Tyr597SerfsTer4,ENST00000541717,;MELK,frameshift_variant,p.Tyr507SerfsTer4,ENST00000536987,;MELK,frameshift_variant,p.Tyr567SerfsTer4,ENST00000545008,;MELK,frameshift_variant,p.Tyr638SerfsTer4,ENST00000298048,;MELK,frameshift_variant,p.Tyr606SerfsTer4,ENST00000543751,;MELK,frameshift_variant,p.Tyr567SerfsTer4,ENST00000536329,;MELK,frameshift_variant,p.Tyr444SerfsTer4,ENST00000538311,;	2097-2099	68	41	SUCCESS
C9orf129	445577	.	GRCh37	9	96082686	96082686	+	intron_variant	Intron	SNP	C	C	T	rs748237623	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	46	0	ENST00000375419.1:c.366-1230G>A		p.*122*	ENST00000375419	NM_001098808.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CTAGACGCCAG	NONE	byFrequency	2133	.	.	.	ENSP00000297954	.	.	.	.	.	.	.	.	.	.	rs748237623	.	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,3_prime_UTR_variant,,ENST00000349097,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,3_prime_UTR_variant,,ENST00000356055,;WNK2,3_prime_UTR_variant,,ENST00000448251,;WNK2,3_prime_UTR_variant,,ENST00000395477,;C9orf129,intron_variant,,ENST00000375419,;WNK2,downstream_gene_variant,,ENST00000427277,;WNK2,downstream_gene_variant,,ENST00000432730,;WNK2,downstream_gene_variant,,ENST00000411624,;WNK2,downstream_gene_variant,,ENST00000297954,;WNK2,non_coding_transcript_exon_variant,,ENST00000471076,;WNK2,non_coding_transcript_exon_variant,,ENST00000467401,;	.	46	14	SUCCESS
CCNB3	85417	.	GRCh37	X	50037976	50037976	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	100	0	ENST00000276014.7:c.318T>A	p.Asn106Lys	p.N106K	ENST00000276014	NM_033031.2	106	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS14331.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATAAGCG	NONE	.	.	.	.	.	ENSP00000365210	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000376042	Transcript	.	.	ENSG00000147082	18709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	deleterious(0.02)	.	CCNB3_HUMAN	CCNB3	HGNC	Q8WTR6_HUMAN	.	UPI000022DC76	SNV	CCNB3,missense_variant,p.Asn106Lys,ENST00000376042,;CCNB3,missense_variant,p.Asn106Lys,ENST00000276014,;CCNB3,intron_variant,,ENST00000348603,;CCNB3,intron_variant,,ENST00000376038,;CCNB3,missense_variant,p.Asn106Lys,ENST00000476167,;	616	100	29	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4968005	4968005	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	35	170	0	ENST00000400457.2:c.2323A>G	p.Ser775Gly	p.S775G	ENST00000400457	NM_032973.2	775	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS14777.1	2386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGTGTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000355419	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated(0.23)	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,missense_variant,p.Ser796Gly,ENST00000215473,;PCDH11Y,missense_variant,p.Ser785Gly,ENST00000333703,;PCDH11Y,missense_variant,p.Ser775Gly,ENST00000400457,;PCDH11Y,missense_variant,p.Ser796Gly,ENST00000362095,;	3120	170	54	SUCCESS
PDCD11	22984	.	GRCh37	10	105183390	105183390	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	58	0	ENST00000369797.3:c.2738A>T	p.Asp913Val	p.D913V	ENST00000369797	NM_014976.1	913	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31276.1	2738	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGACTTGG	NONE	.	.	hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5	.	.	ENSP00000358812	.	19/36	.	.	.	.	.	.	.	.	.	19/36	PASS	ENST00000369797	Transcript	.	.	ENSG00000148843	13408	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.091)	.	deleterious(0.03)	.	RRP5_HUMAN	PDCD11	HGNC	.	.	UPI00001C1ED1	SNV	PDCD11,missense_variant,p.Asp913Val,ENST00000369797,;PDCD11,upstream_gene_variant,,ENST00000490787,;	2832	58	58	SUCCESS
WDR96	0	.	GRCh37	10	105932273	105932273	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	42	0	ENST00000357060.3:c.2481A>C	p.Glu827Asp	p.E827D	ENST00000357060	NM_025145.5	827	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS31281.1	2481	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTTCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14885	.	.	ENSP00000349568	.	20/38	.	.	.	.	.	.	.	.	.	20/38	PASS	ENST00000357060	Transcript	.	.	ENSG00000197748	26684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.13)	.	WDR96_HUMAN	WDR96	HGNC	.	.	UPI0000D60FC7	SNV	WDR96,missense_variant,p.Glu758Asp,ENST00000278064,;WDR96,missense_variant,p.Glu828Asp,ENST00000428666,;WDR96,missense_variant,p.Glu827Asp,ENST00000357060,;WDR96,missense_variant,p.Glu188Asp,ENST00000434629,;	2597	42	36	SUCCESS
NRAP	4892	.	GRCh37	10	115349517	115349517	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	40	0	ENST00000359988.3:c.4996G>A	p.Gly1666Ser	p.G1666S	ENST00000359988	NM_001261463.1	1666	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS7579.1	4996	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCAACAC	NONE	.	.	hmmpanther:PTHR11039	.	.	ENSP00000353078	.	41/42	.	.	.	.	.	.	.	.	.	41/42	PASS	ENST00000359988	Transcript	.	.	ENSG00000197893	7988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	NRAP_HUMAN	NRAP	HGNC	.	.	UPI00001F9739	SNV	NRAP,missense_variant,p.Gly1639Ser,ENST00000369360,;NRAP,missense_variant,p.Gly1674Ser,ENST00000369358,;NRAP,missense_variant,p.Gly1631Ser,ENST00000360478,;NRAP,missense_variant,p.Gly1666Ser,ENST00000359988,;HABP2,downstream_gene_variant,,ENST00000351270,;HABP2,downstream_gene_variant,,ENST00000542051,;	5241	40	57	SUCCESS
FAM171A1	221061	.	GRCh37	10	15255230	15255230	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1281476146	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	121	0	ENST00000378116.4:c.2357C>T	p.Thr786Met	p.T786M	ENST00000378116	NM_001010924.1	786	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS31154.1	2357	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGTGTAG	NONE	.	.	hmmpanther:PTHR31626,Pfam_domain:PF10577,hmmpanther:PTHR31626:SF1	.	.	ENSP00000367356	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000378116	Transcript	.	.	ENSG00000148468	23522	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	F1711_HUMAN	FAM171A1	HGNC	.	.	UPI00001414CA	SNV	FAM171A1,missense_variant,p.Thr786Met,ENST00000378116,;FAM171A1,downstream_gene_variant,,ENST00000477161,;	2364	121	94	SUCCESS
RTKN2	219790	.	GRCh37	10	63976948	63976948	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs77837774	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	32	135	0	ENST00000373789.3:c.949del	p.Leu317SerfsTer19	p.L317Sfs*19	ENST00000373789	NM_145307.2	317	Ctc/tc	0	.	A:0	.	A:0	.	-	L/X	protein_coding	YES	CCDS7263.1	949	INDELOCATOR*|VARSCANI*|PINDEL	.	AATAGAGTTTAC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF21,PROSITE_profiles:PS50003	A:0	.	ENSP00000362894	A:0.001	9/12	.	.	.	.	.	.	.	.	rs77837774	9/12	PASS	ENST00000373789	Transcript	.	A:0.0002	ENSG00000182010	19364	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	deletion	RTKN2,frameshift_variant,p.Leu317SerfsTer19,ENST00000373789,;RTKN2,frameshift_variant,p.Leu317SerfsTer19,ENST00000395265,;RTKN2,frameshift_variant,p.Leu98SerfsTer19,ENST00000315289,;	1046	135	136	SUCCESS
CHST3	9469	.	GRCh37	10	73767898	73767898	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	64	0	ENST00000373115.4:c.1109G>A	p.Arg370His	p.R370H	ENST00000373115	NM_004273.4	370	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS7312.1	1109	MUTECT|MUSE	.	GGTGCGCTACG	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF005883,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,missense_variant,p.Arg370His,ENST00000373115,;	1546	64	50	SUCCESS
KIF11	3832	.	GRCh37	10	94376541	94376541	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	42	0	ENST00000260731.3:c.1080G>A	p.Leu360=	p.L360=	ENST00000260731	NM_004523.3	360	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7422.1	1080	MUTECT|MUSE|VARSCANS	.	ATATTGAATAA	NONE	.	.	hmmpanther:PTHR24115:SF105,hmmpanther:PTHR24115,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260731	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000260731	Transcript	1	.	ENSG00000138160	6388	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIF11_HUMAN	KIF11	HGNC	.	.	UPI000013D0FC	SNV	KIF11,synonymous_variant,p.%3D,ENST00000260731,;	1170	42	51	SUCCESS
CTR9	9646	.	GRCh37	11	10785358	10785358	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs869312709	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	53	0	ENST00000361367.2:c.1126G>A	p.Glu376Lys	p.E376K	ENST00000361367	NM_014633.3	376	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS7805.1	1126	RADIA|MUTECT|MUSE|VARSCANS	.	ATTACGAAACT	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2,Gene3D:1.25.40.10,Superfamily_domains:SSF81901	.	.	ENSP00000355013	.	9/25	.	.	.	.	.	.	.	.	COSM3764275	9/25	PASS	ENST00000361367	Transcript	.	.	ENSG00000198730	16850	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.959)	.	deleterious(0)	1	CTR9_HUMAN	CTR9	HGNC	.	.	UPI000006F32A	SNV	CTR9,missense_variant,p.Glu376Lys,ENST00000361367,;CTR9,downstream_gene_variant,,ENST00000524523,;CTR9,upstream_gene_variant,,ENST00000529355,;CTR9,upstream_gene_variant,,ENST00000526874,;	1552	53	57	SUCCESS
EXPH5	23086	.	GRCh37	11	108464302	108464302	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs775465901	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	55	0	ENST00000265843.4:c.-39G>A		p.*13*	ENST00000265843	NM_015065.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8341.1	.	MUTECT|MUSE	.	CTTGGCGCCTC	NONE	byFrequency	.	.	.	.	ENSP00000265843	.	1/6	.	.	.	.	.	.	.	.	rs775465901	1/6	PASS	ENST00000265843	Transcript	.	.	ENSG00000110723	30578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EXPH5_HUMAN	EXPH5	HGNC	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN	.	UPI000013D692	SNV	EXPH5,5_prime_UTR_variant,,ENST00000265843,;EXPH5,intron_variant,,ENST00000525344,;	73	55	47	SUCCESS
SIK3	23387	.	GRCh37	11	116728796	116728796	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	115	0	ENST00000292055.4:c.3067C>T	p.His1023Tyr	p.H1023Y	ENST00000292055	NM_025164.3	1023	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS8379.1	3067	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTGGGGCG	NONE	.	.	hmmpanther:PTHR22971	.	.	ENSP00000292055	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000292055	Transcript	.	.	ENSG00000160584	29165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	deleterious_low_confidence(0.03)	.	SIK3_HUMAN	SIK3	HGNC	.	.	UPI00001FA400	SNV	SIK3,missense_variant,p.His862Tyr,ENST00000434315,;SIK3,missense_variant,p.His1123Tyr,ENST00000445177,;SIK3,missense_variant,p.His1023Tyr,ENST00000292055,;SIK3,missense_variant,p.His1021Tyr,ENST00000446921,;SIK3,missense_variant,p.His1081Tyr,ENST00000375300,;SIK3,missense_variant,p.His963Tyr,ENST00000542607,;SIK3,missense_variant,p.His358Tyr,ENST00000375288,;APOA1-AS,downstream_gene_variant,,ENST00000444200,;SIK3,non_coding_transcript_exon_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;	3103	115	77	SUCCESS
OR8B4	283162	.	GRCh37	11	124294034	124294034	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	66	1	ENST00000356130.3:c.734T>A	p.Ile245Asn	p.I245N	ENST00000356130	NM_001005196.1	245	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS31710.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAATTATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000348449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356130	Transcript	.	.	ENSG00000198657	8473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.327)	.	deleterious_low_confidence(0)	.	OR8B4_HUMAN	OR8B4	HGNC	.	.	UPI00000015B0	SNV	OR8B4,missense_variant,p.Ile245Asn,ENST00000356130,;	756	67	54	SUCCESS
NCAPD3	23310	.	GRCh37	11	134027961	134027961	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	32	0	ENST00000534548.2:c.4036C>T	p.Pro1346Ser	p.P1346S	ENST00000534548	NM_015261.2	1346	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS31723.1	4036	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGCCTGT	NONE	.	.	PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222	.	.	ENSP00000433681	.	31/35	.	.	.	.	.	.	.	.	.	31/35	PASS	ENST00000534548	Transcript	.	.	ENSG00000151503	28952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.29)	.	CNDD3_HUMAN	NCAPD3	HGNC	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN	.	UPI00001C1EFE	SNV	NCAPD3,missense_variant,p.Pro1346Ser,ENST00000534548,;NCAPD3,downstream_gene_variant,,ENST00000530396,;NCAPD3,downstream_gene_variant,,ENST00000527944,;NCAPD3,upstream_gene_variant,,ENST00000526787,;NCAPD3,splice_region_variant,,ENST00000525964,;NCAPD3,splice_region_variant,,ENST00000534532,;NCAPD3,upstream_gene_variant,,ENST00000525432,;	4101	32	38	SUCCESS
CHST1	8534	.	GRCh37	11	45671573	45671573	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	56	1	ENST00000308064.2:c.901C>T	p.Arg301Cys	p.R301C	ENST00000308064	NM_003654.5	301	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS7913.1	901	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGCGCACCA	NONE	.	.	hmmpanther:PTHR10704:SF36,hmmpanther:PTHR10704,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	.	.	ENSP00000309270	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000308064	Transcript	.	.	ENSG00000175264	1969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CHST1_HUMAN	CHST1	HGNC	.	.	UPI0000073EA0	SNV	CHST1,missense_variant,p.Arg301Cys,ENST00000308064,;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	1572	57	46	SUCCESS
OR4A5	81318	.	GRCh37	11	51411561	51411561	+	synonymous_variant	Silent	SNP	G	G	A	rs1213674443	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	14	83	0	ENST00000319760.6:c.835C>T	p.Leu279=	p.L279=	ENST00000319760	NM_001005272.3	279	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31497.1	835	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCAGCATGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF299,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	.	.	ENSP00000367664	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319760	Transcript	.	.	ENSG00000221840	15162	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4A5_HUMAN	OR4A5	HGNC	.	.	UPI0000041D58	SNV	OR4A5,synonymous_variant,p.%3D,ENST00000319760,;	888	83	76	SUCCESS
AHNAK	79026	.	GRCh37	11	62292058	62292058	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	47	0	ENST00000378024.4:c.9831A>G	p.Lys3277=	p.K3277=	ENST00000378024	NM_001620.2	3277	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS31584.1	9831	MUTECT|MUSE	.	GGACCTTTTAA	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,synonymous_variant,p.%3D,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	10106	47	44	SUCCESS
GPR137	56834	.	GRCh37	11	64055851	64055851	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762903268	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	45	0	ENST00000313074.3:c.823G>A	p.Val275Ile	p.V275I	ENST00000313074	NM_020155.3	275	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS53655.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGTATTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR15146,hmmpanther:PTHR15146:SF4	.	.	ENSP00000411827	.	7/9	.	.	.	.	.	.	.	.	rs762903268	7/9	PASS	ENST00000411458	Transcript	.	.	ENSG00000173264	24300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.279)	.	deleterious(0.05)	.	G137A_HUMAN	GPR137	HGNC	F5H7S0_HUMAN,F5H4R8_HUMAN,F5H1V9_HUMAN,F5H1T3_HUMAN,F5H0Q1_HUMAN,F5GXW8_HUMAN,F5GXI8_HUMAN	.	UPI00017A7FAD	SNV	GPR137,stop_gained,p.Trp6Ter,ENST00000536282,;GPR137,missense_variant,p.Val333Ile,ENST00000411458,;GPR137,missense_variant,p.Val225Ile,ENST00000377702,;GPR137,missense_variant,p.Val275Ile,ENST00000313074,;GPR137,missense_variant,p.Val275Ile,ENST00000539851,;GPR137,missense_variant,p.Val275Ile,ENST00000438980,;GPR137,downstream_gene_variant,,ENST00000543383,;GPR137,downstream_gene_variant,,ENST00000542190,;BAD,upstream_gene_variant,,ENST00000309032,;GPR137,downstream_gene_variant,,ENST00000535675,;KCNK4,upstream_gene_variant,,ENST00000539216,;KCNK4,upstream_gene_variant,,ENST00000394525,;GPR137,downstream_gene_variant,,ENST00000538032,;KCNK4,upstream_gene_variant,,ENST00000538767,;GPR137,downstream_gene_variant,,ENST00000538244,;BAD,upstream_gene_variant,,ENST00000394531,;KCNK4,upstream_gene_variant,,ENST00000422670,;BAD,upstream_gene_variant,,ENST00000394532,;GPR137,downstream_gene_variant,,ENST00000539833,;GPR137,downstream_gene_variant,,ENST00000546139,;BAD,upstream_gene_variant,,ENST00000544785,;GPR137,downstream_gene_variant,,ENST00000536667,;GPR137,downstream_gene_variant,,ENST00000540370,;GPR137,downstream_gene_variant,,ENST00000541952,;RP11-783K16.10,upstream_gene_variant,,ENST00000539086,;KCNK4,upstream_gene_variant,,ENST00000539651,;GPR137,3_prime_UTR_variant,,ENST00000546201,;GPR137,non_coding_transcript_exon_variant,,ENST00000545366,;GPR137,downstream_gene_variant,,ENST00000536017,;KCNK4,upstream_gene_variant,,ENST00000538846,;KCNK4,upstream_gene_variant,,ENST00000453423,;BAD,upstream_gene_variant,,ENST00000544271,;KCNK4,upstream_gene_variant,,ENST00000541349,;KCNK4,upstream_gene_variant,,ENST00000545838,;	1025	45	29	SUCCESS
APBB1	322	.	GRCh37	11	6417394	6417394	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1046276459	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	56	0	ENST00000609360.1:c.1724G>A	p.Arg575His	p.R575H	ENST00000609360	NM_001164.3	575	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS31410.1	1718	MUTECT|MUSE	.	GTTCACGGCTG	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00462,Gene3D:2.30.29.30,Pfam_domain:PF00640,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF5,PROSITE_profiles:PS01179	.	.	ENSP00000299402	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000299402	Transcript	.	.	ENSG00000166313	581	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.719)	.	deleterious(0.01)	.	APBB1_HUMAN	APBB1	HGNC	.	.	UPI0000070BF7	SNV	APBB1,missense_variant,p.Arg316His,ENST00000608704,;APBB1,missense_variant,p.Arg316His,ENST00000608394,;APBB1,missense_variant,p.Arg353His,ENST00000530885,;APBB1,missense_variant,p.Arg575His,ENST00000609360,;APBB1,missense_variant,p.Arg573His,ENST00000299402,;APBB1,missense_variant,p.Arg575His,ENST00000389906,;APBB1,missense_variant,p.Arg316His,ENST00000608645,;APBB1,missense_variant,p.Arg340His,ENST00000609331,;APBB1,missense_variant,p.Arg573His,ENST00000311051,;APBB1,missense_variant,p.Arg355His,ENST00000608655,;APBB1,missense_variant,p.Arg100His,ENST00000529519,;SMPD1,downstream_gene_variant,,ENST00000527275,;SMPD1,downstream_gene_variant,,ENST00000342245,;SMPD1,downstream_gene_variant,,ENST00000526280,;SMPD1,downstream_gene_variant,,ENST00000299397,;SMPD1,downstream_gene_variant,,ENST00000530395,;SMPD1,downstream_gene_variant,,ENST00000356761,;APBB1,non_coding_transcript_exon_variant,,ENST00000526240,;SMPD1,downstream_gene_variant,,ENST00000533196,;APBB1,missense_variant,p.Arg575His,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000524626,;SMPD1,downstream_gene_variant,,ENST00000532367,;SMPD1,downstream_gene_variant,,ENST00000533123,;SMPD1,downstream_gene_variant,,ENST00000534405,;SMPD1,downstream_gene_variant,,ENST00000531336,;APBB1,downstream_gene_variant,,ENST00000529778,;APBB1,downstream_gene_variant,,ENST00000533407,;SMPD1,downstream_gene_variant,,ENST00000531303,;	1818	56	44	SUCCESS
SNX15	29907	.	GRCh37	11	64802558	64802558	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs774757342	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	8	128	0	ENST00000377244.3:c.400G>T	p.Val134Leu	p.V134L	ENST00000377244	NM_013306.4	134	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS8089.1	400	MUTECT|MUSE|VARSCANS	.	TGGAGGTGTCC	NONE	.	.	hmmpanther:PTHR15508	.	.	ENSP00000366452	.	5/8	.	.	.	.	.	.	.	.	rs774757342	5/8	PASS	ENST00000377244	Transcript	.	.	ENSG00000110025	14978	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.51)	.	SNX15_HUMAN	SNX15	HGNC	E5KQS5_HUMAN	.	UPI0000135B4B	SNV	SNX15,missense_variant,p.Val54Leu,ENST00000525648,;SNX15,missense_variant,p.Val122Leu,ENST00000524831,;SNX15,missense_variant,p.Val130Leu,ENST00000534637,;SNX15,missense_variant,p.Val134Leu,ENST00000377244,;SNX15,missense_variant,p.Val134Leu,ENST00000352068,;SNX15,3_prime_UTR_variant,,ENST00000529673,;RP11-399J13.3,3_prime_UTR_variant,,ENST00000301886,;SNX15,non_coding_transcript_exon_variant,,ENST00000526702,;	530	128	98	SUCCESS
RELA	5970	.	GRCh37	11	65422089	65422089	+	synonymous_variant	Silent	SNP	G	G	T	rs150493312	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	74	0	ENST00000406246.3:c.1416C>A	p.Ser472=	p.S472=	ENST00000406246	NM_001243985.1	472	tcC/tcA	0	C:0	.	.	.	.	T	S	protein_coding	YES	CCDS31609.1	1416	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCGGAGTT	NONE	byCluster	.	hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF1	.	C:0.0002	ENSP00000384273	.	11/11	.	.	.	.	.	.	.	.	rs150493312	11/11	PASS	ENST00000406246	Transcript	.	.	ENSG00000173039	9955	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF65_HUMAN	RELA	HGNC	Q96F54_HUMAN,E9PRX2_HUMAN,E9PJZ9_HUMAN,E9PJR1_HUMAN,E9PI38_HUMAN	.	UPI000013ED68	SNV	RELA,synonymous_variant,p.%3D,ENST00000406246,;RELA,synonymous_variant,p.%3D,ENST00000308639,;RELA,3_prime_UTR_variant,,ENST00000525693,;RELA,downstream_gene_variant,,ENST00000527749,;RELA,downstream_gene_variant,,ENST00000534558,;SIPA1,downstream_gene_variant,,ENST00000527525,;SIPA1,downstream_gene_variant,,ENST00000394224,;SIPA1,downstream_gene_variant,,ENST00000394227,;RELA,downstream_gene_variant,,ENST00000532999,;RELA,downstream_gene_variant,,ENST00000526257,;SIPA1,downstream_gene_variant,,ENST00000534313,;RELA,non_coding_transcript_exon_variant,,ENST00000531484,;RELA,intron_variant,,ENST00000526283,;RELA,downstream_gene_variant,,ENST00000529389,;RELA,downstream_gene_variant,,ENST00000533546,;RELA,downstream_gene_variant,,ENST00000525658,;SIPA1,downstream_gene_variant,,ENST00000531339,;SIPA1,downstream_gene_variant,,ENST00000528699,;RELA,downstream_gene_variant,,ENST00000526738,;SIPA1,downstream_gene_variant,,ENST00000529725,;RELA,downstream_gene_variant,,ENST00000529330,;RELA,downstream_gene_variant,,ENST00000527909,;	1678	74	65	SUCCESS
NLRP14	338323	.	GRCh37	11	7063785	7063785	+	synonymous_variant	Silent	SNP	A	A	G	rs768980030	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	22	117	0	ENST00000299481.4:c.528A>G	p.Pro176=	p.P176=	ENST00000299481	NM_176822.3	176	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7776.1	528	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCACAGAT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR24106:SF82,hmmpanther:PTHR24106	.	.	ENSP00000299481	.	4/12	.	.	.	.	.	.	.	.	rs768980030	4/12	PASS	ENST00000299481	Transcript	.	.	ENSG00000158077	22939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAL14_HUMAN	NLRP14	HGNC	.	.	UPI0000167F6E	SNV	NLRP14,synonymous_variant,p.%3D,ENST00000299481,;	874	117	96	SUCCESS
STAB2	55576	.	GRCh37	12	104157269	104157269	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	20	69	0	ENST00000388887.2:c.7489-1G>C		p.X2497_splice	ENST00000388887	NM_017564.9	2497		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31888.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGTCGGA	NONE	.	.	.	.	.	ENSP00000373539	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	HIGH	67/68	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,splice_acceptor_variant,,ENST00000388887,;STAB2,upstream_gene_variant,,ENST00000552777,;RP11-341G23.4,non_coding_transcript_exon_variant,,ENST00000550029,;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,downstream_gene_variant,,ENST00000548579,;	.	69	72	SUCCESS
TMEM132D	121256	.	GRCh37	12	129569203	129569203	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	101	0	ENST00000422113.2:c.1488G>T	p.Met496Ile	p.M496I	ENST00000422113	NM_133448.2	496	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS9266.1	1488	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCATTTC	NONE	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.16)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Met496Ile,ENST00000422113,;TMEM132D,missense_variant,p.Met34Ile,ENST00000389441,;	1815	101	86	SUCCESS
CNTN1	1272	.	GRCh37	12	41422971	41422971	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	89	0	ENST00000347616.1:c.2930G>A	p.Arg977His	p.R977H	ENST00000347616		977	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8737.1	2930	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCGCGCGC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50853	.	.	ENSP00000447006	.	23/24	.	.	.	.	.	.	.	.	COSM468330	23/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Arg977His,ENST00000551295,;CNTN1,missense_variant,p.Arg977His,ENST00000347616,;CNTN1,missense_variant,p.Arg966His,ENST00000348761,;CNTN1,downstream_gene_variant,,ENST00000550305,;CNTN1,missense_variant,p.Arg19His,ENST00000548481,;	3047	89	103	SUCCESS
PTPRB	5787	.	GRCh37	12	70949887	70949887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	70	0	ENST00000261266.5:c.4102T>C	p.Ser1368Pro	p.S1368P	ENST00000261266	NM_002837.4	1368	Tcc/Ccc	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS44943.1	4756	MUTECT|MUSE	.	CGTGGAGTTCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,missense_variant,p.Ser1278Pro,ENST00000538708,;PTPRB,missense_variant,p.Ser1498Pro,ENST00000550358,;PTPRB,missense_variant,p.Ser1368Pro,ENST00000261266,;PTPRB,missense_variant,p.Ser1278Pro,ENST00000451516,;PTPRB,missense_variant,p.Ser1278Pro,ENST00000550857,;PTPRB,missense_variant,p.Ser1586Pro,ENST00000334414,;PTPRB,downstream_gene_variant,,ENST00000551525,;PTPRB,downstream_gene_variant,,ENST00000548122,;	4801	70	70	SUCCESS
CLSTN3	9746	.	GRCh37	12	7295867	7295867	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	34	0	ENST00000266546.6:c.1807A>G	p.Thr603Ala	p.T603A	ENST00000266546	NM_014718.3	603	Acg/Gcg	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS8575.1	1807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCACGCCC	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5	.	.	ENSP00000266546	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.795)	.	deleterious(0.01)	.	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	SNV	CLSTN3,missense_variant,p.Thr615Ala,ENST00000537408,;CLSTN3,missense_variant,p.Thr603Ala,ENST00000266546,;CLSTN3,downstream_gene_variant,,ENST00000544584,;CLSTN3,downstream_gene_variant,,ENST00000535668,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541770,;	2257	34	26	SUCCESS
PPFIA2	8499	.	GRCh37	12	81747020	81747020	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	37	70	0	ENST00000549396.1:c.1872T>A	p.Asp624Glu	p.D624E	ENST00000549396	NM_003625.3	624	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS55857.1	1872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCATCAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	.	.	ENSP00000450337	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.28)	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	SNV	PPFIA2,missense_variant,p.Asp606Glu,ENST00000333447,;PPFIA2,missense_variant,p.Asp550Glu,ENST00000407050,;PPFIA2,missense_variant,p.Asp191Glu,ENST00000541570,;PPFIA2,missense_variant,p.Asp525Glu,ENST00000443686,;PPFIA2,missense_variant,p.Asp471Glu,ENST00000550359,;PPFIA2,missense_variant,p.Asp205Glu,ENST00000553058,;PPFIA2,missense_variant,p.Asp624Glu,ENST00000548586,;PPFIA2,missense_variant,p.Asp624Glu,ENST00000549396,;PPFIA2,missense_variant,p.Asp606Glu,ENST00000549325,;PPFIA2,missense_variant,p.Asp624Glu,ENST00000550584,;PPFIA2,missense_variant,p.Asp624Glu,ENST00000552948,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,;PPFIA2,downstream_gene_variant,,ENST00000548670,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,upstream_gene_variant,,ENST00000549917,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	2033	70	109	SUCCESS
CD69	969	.	GRCh37	12	9906144	9906144	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	13	84	0	ENST00000228434.3:c.533A>C	p.Asn178Thr	p.N178T	ENST00000228434	NM_001781.2	178	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS8604.1	533	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTTTTTC	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF156,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000228434	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228434	Transcript	.	.	ENSG00000110848	1694	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.28)	.	CD69_HUMAN	CD69	HGNC	Q6LAB3_HUMAN,Q53ZX0_HUMAN,B4E009_HUMAN	.	UPI00000622D7	SNV	CD69,missense_variant,p.Asn178Thr,ENST00000228434,;CD69,downstream_gene_variant,,ENST00000536709,;CD69,downstream_gene_variant,,ENST00000543147,;CD69,downstream_gene_variant,,ENST00000416624,;	614	84	112	SUCCESS
IGHV3-13	28449	.	GRCh37	14	106586179	106586179	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs370967026	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	27	0	ENST00000390602.2:c.306C>G	p.Asn102Lys	p.N102K	ENST00000390602		102	aaC/aaG	0	A:0.0003	.	.	.	.	C	N/K	IG_V_gene	YES	.	306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGTTCAT	NONE	byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	A:0	ENSP00000375011	.	2/2	.	.	.	.	.	.	.	.	rs370967026	2/2	PASS	ENST00000390602	Transcript	.	.	ENSG00000211942	5581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	deleterious_low_confidence(0.02)	.	.	IGHV3-13	HGNC	.	.	UPI000011AADB	SNV	IGHV3-13,missense_variant,p.Asn102Lys,ENST00000390602,;	386	27	27	SUCCESS
OR4K17	390436	.	GRCh37	14	20585954	20585954	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	80	0	ENST00000315543.4:c.389C>A	p.Thr130Asn	p.T130N	ENST00000315543	NM_001004715.1	130	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS32030.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACTCAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000319197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315543	Transcript	.	.	ENSG00000176230	15355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	OR4KH_HUMAN	OR4K17	HGNC	.	.	UPI000004B1EA	SNV	OR4K17,missense_variant,p.Thr130Asn,ENST00000315543,;	389	80	89	SUCCESS
TRAV26-1	28657	.	GRCh37	14	22592189	22592189	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	19	0	ENST00000390455.3:c.274C>T	p.Leu92=	p.L92=	ENST00000390455		92	Ctg/Ttg	0	.	.	.	.	.	T	L	TR_V_gene	YES	.	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCCTGCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19433:SF59,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000452431	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390455	Transcript	.	.	ENSG00000211807	12123	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TRAV26-1	HGNC	.	.	UPI000011D129	SNV	TRAV26-1,synonymous_variant,p.%3D,ENST00000390455,;	483	19	18	SUCCESS
NUBPL	80224	.	GRCh37	14	32030678	32030678	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	38	0	ENST00000281081.7:c.33T>C	p.Gly11=	p.G11=	ENST00000281081	NM_025152.2	11	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS41940.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTGGGGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23264,hmmpanther:PTHR23264:SF4	.	.	ENSP00000281081	.	1/11	.	.	.	.	.	.	.	.	COSM3814697	1/11	PASS	ENST00000281081	Transcript	.	.	ENSG00000151413	20278	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NUBPL_HUMAN	NUBPL	HGNC	F8W061_HUMAN,B3KSK2_HUMAN	.	UPI00003669AB	SNV	NUBPL,synonymous_variant,p.%3D,ENST00000550649,;NUBPL,synonymous_variant,p.%3D,ENST00000281081,;NUBPL,intron_variant,,ENST00000550005,;NUBPL,upstream_gene_variant,,ENST00000551314,;CTD-2213F21.3,upstream_gene_variant,,ENST00000548096,;CTD-2213F21.4,upstream_gene_variant,,ENST00000547093,;NUBPL,non_coding_transcript_exon_variant,,ENST00000548937,;NUBPL,downstream_gene_variant,,ENST00000552814,;NUBPL,upstream_gene_variant,,ENST00000550355,;NUBPL,synonymous_variant,p.%3D,ENST00000552489,;NUBPL,synonymous_variant,p.%3D,ENST00000547839,;NUBPL,upstream_gene_variant,,ENST00000549838,;	78	38	29	SUCCESS
NIN	51199	.	GRCh37	14	51233078	51233078	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	74	0	ENST00000382041.3:c.1582C>A	p.Leu528Met	p.L528M	ENST00000382041	NM_016350.4	528	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS32079.1	1582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAGGAAGA	NONE	.	.	hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11	.	.	ENSP00000371472	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.499)	.	deleterious(0.01)	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,missense_variant,p.Leu528Met,ENST00000389868,;NIN,missense_variant,p.Leu528Met,ENST00000245441,;NIN,missense_variant,p.Leu528Met,ENST00000324330,;NIN,missense_variant,p.Leu528Met,ENST00000382041,;NIN,missense_variant,p.Leu19Met,ENST00000389869,;NIN,missense_variant,p.Leu528Met,ENST00000382043,;NIN,missense_variant,p.Leu19Met,ENST00000530853,;NIN,missense_variant,p.Leu528Met,ENST00000453196,;NIN,missense_variant,p.Leu528Met,ENST00000530997,;NIN,downstream_gene_variant,,ENST00000453401,;NIN,missense_variant,p.Leu528Met,ENST00000476352,;	1773	74	73	SUCCESS
NIN	51199	.	GRCh37	14	51233079	51233079	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	74	0	ENST00000382041.3:c.1581C>A	p.Phe527Leu	p.F527L	ENST00000382041	NM_016350.4	527	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS32079.1	1581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGAAGAA	NONE	.	.	hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11	.	.	ENSP00000371472	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.26)	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,missense_variant,p.Phe527Leu,ENST00000389868,;NIN,missense_variant,p.Phe527Leu,ENST00000245441,;NIN,missense_variant,p.Phe527Leu,ENST00000324330,;NIN,missense_variant,p.Phe527Leu,ENST00000382041,;NIN,missense_variant,p.Phe18Leu,ENST00000389869,;NIN,missense_variant,p.Phe527Leu,ENST00000382043,;NIN,missense_variant,p.Phe18Leu,ENST00000530853,;NIN,missense_variant,p.Phe527Leu,ENST00000453196,;NIN,missense_variant,p.Phe527Leu,ENST00000530997,;NIN,downstream_gene_variant,,ENST00000453401,;NIN,missense_variant,p.Phe527Leu,ENST00000476352,;	1772	74	75	SUCCESS
PTGER2	5732	.	GRCh37	14	52781678	52781678	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	12	67	0	ENST00000245457.5:c.412A>G	p.Ile138Val	p.I138V	ENST00000245457	NM_000956.3	138	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9708.1	412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGATCGGG	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_patterns:PS00237,hmmpanther:PTHR11866:SF8,hmmpanther:PTHR11866,PROSITE_profiles:PS50262	.	.	ENSP00000245457	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000245457	Transcript	.	.	ENSG00000125384	9594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.426)	.	deleterious(0.01)	.	PE2R2_HUMAN	PTGER2	HGNC	G3V2Y6_HUMAN	.	UPI000013CBA3	SNV	PTGER2,missense_variant,p.Ile138Val,ENST00000245457,;PTGER2,intron_variant,,ENST00000557436,;	566	67	51	SUCCESS
RYR3	6263	.	GRCh37	15	33825515	33825515	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	25	0	ENST00000389232.4:c.358C>A	p.Leu120Ile	p.L120I	ENST00000389232	NM_001036.3	120	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS45210.1	358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATCTAACA	NONE	.	.	Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF08709,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000373884	.	5/104	.	.	.	.	.	.	.	.	.	5/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Leu120Ile,ENST00000389232,;RYR3,missense_variant,p.Leu120Ile,ENST00000415757,;	428	25	29	SUCCESS
PLA2G4E	123745	.	GRCh37	15	42298317	42298317	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs189566576	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	126	0	ENST00000399518.3:c.396C>T		p.X132_splice	ENST00000399518	NM_001206670.1	132	aaC/aaT	0	A:0.0127	A:0.0129	.	A:0.0014	.	A	N	protein_coding	YES	CCDS55962.1	396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGTTCTA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF24,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	A:0	A:0.0002	ENSP00000382434	A:0	4/20	.	.	.	.	.	.	.	.	rs189566576	4/20	common_in_exac	ENST00000399518	Transcript	.	A:0.0036	ENSG00000188089	24791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	PLA2G4E	HGNC	B7WPN2_HUMAN	.	UPI0000E59BE5	SNV	PLA2G4E,synonymous_variant,p.%3D,ENST00000399518,;PLA2G4E,synonymous_variant,p.%3D,ENST00000413860,;CTD-2382E5.2,upstream_gene_variant,,ENST00000552704,;	883	126	90	SUCCESS
LCMT2	9836	.	GRCh37	15	43621087	43621087	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs556701152	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	21	0	ENST00000305641.5:c.1601G>T	p.Arg534Leu	p.R534L	ENST00000305641	NM_014793.4	534	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS10094.1	1601	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCGGGCT	NONE	byCluster	.	hmmpanther:PTHR13600,hmmpanther:PTHR13600:SF2,Pfam_domain:PF13964,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000307214	.	1/1	.	.	.	.	.	.	.	.	rs556701152	1/1	PASS	ENST00000305641	Transcript	.	.	ENSG00000168806	17558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	LCMT2_HUMAN	LCMT2	HGNC	B4DUW3_HUMAN	.	UPI00000727F6	SNV	LCMT2,missense_variant,p.Arg534Leu,ENST00000305641,;LCMT2,missense_variant,p.Arg113Leu,ENST00000544735,;LCMT2,3_prime_UTR_variant,,ENST00000567039,;ADAL,upstream_gene_variant,,ENST00000428046,;ADAL,upstream_gene_variant,,ENST00000389651,;ADAL,upstream_gene_variant,,ENST00000422466,;ADAL,upstream_gene_variant,,ENST00000563551,;ADAL,upstream_gene_variant,,ENST00000565555,;	1717	21	32	SUCCESS
MYO5A	4644	.	GRCh37	15	52652277	52652277	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	52	0	ENST00000399231.3:c.3311A>G	p.His1104Arg	p.H1104R	ENST00000399231	NM_000259.3	1104	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS42037.1	3311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACATGCTGC	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273	.	.	ENSP00000382177	.	25/41	.	.	.	.	.	.	.	.	.	25/41	PASS	ENST00000399231	Transcript	1	.	ENSG00000197535	7602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.52)	.	MYO5A_HUMAN	MYO5A	HGNC	Q9UES4_HUMAN	.	UPI0000E445E1	SNV	MYO5A,missense_variant,p.His1104Arg,ENST00000358212,;MYO5A,missense_variant,p.His1104Arg,ENST00000399231,;MYO5A,missense_variant,p.His1104Arg,ENST00000399233,;MYO5A,missense_variant,p.His1104Arg,ENST00000356338,;MYO5A,missense_variant,p.His1104Arg,ENST00000553916,;	3555	52	50	SUCCESS
MBTPS1	8720	.	GRCh37	16	84118684	84118684	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	11	169	0	ENST00000343411.3:c.1190G>C	p.Gly397Ala	p.G397A	ENST00000343411	NM_003791.2	397	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS10941.1	1190	MUTECT|MUSE|VARSCANS	.	GCACGCCAGCA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52743,Pfam_domain:PF00082,Gene3D:3.40.50.200,hmmpanther:PTHR10795:SF30,hmmpanther:PTHR10795	.	.	ENSP00000344223	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000343411	Transcript	.	.	ENSG00000140943	15456	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.05)	.	tolerated(0.41)	.	MBTP1_HUMAN	MBTPS1	HGNC	H3BV53_HUMAN	.	UPI0000033348	SNV	MBTPS1,missense_variant,p.Gly138Ala,ENST00000570012,;MBTPS1,missense_variant,p.Gly397Ala,ENST00000343411,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000565863,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000569770,;MBTPS1,intron_variant,,ENST00000563231,;MBTPS1,upstream_gene_variant,,ENST00000564643,;MBTPS1,upstream_gene_variant,,ENST00000562788,;	1686	169	110	SUCCESS
CYB5D2	124936	.	GRCh37	17	4058038	4058038	+	synonymous_variant	Silent	SNP	G	G	A	rs748080113	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	137	0	ENST00000301391.3:c.462G>A	p.Ala154=	p.A154=	ENST00000301391	NM_144611.3	154	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11044.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGATCAC	NONE	byFrequency	.	hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF4	.	.	ENSP00000301391	.	3/4	.	.	.	.	.	.	.	.	rs748080113	3/4	PASS	ENST00000301391	Transcript	.	.	ENSG00000167740	28471	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEUFC_HUMAN	CYB5D2	HGNC	.	.	UPI000006E3B0	SNV	CYB5D2,synonymous_variant,p.%3D,ENST00000301391,;CYB5D2,synonymous_variant,p.%3D,ENST00000577075,;CYB5D2,synonymous_variant,p.%3D,ENST00000573984,;CYB5D2,synonymous_variant,p.%3D,ENST00000575251,;CYB5D2,non_coding_transcript_exon_variant,,ENST00000575411,;	962	137	102	SUCCESS
STXBP4	252983	.	GRCh37	17	53158439	53158439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	44	100	0	ENST00000376352.2:c.1384A>G	p.Thr462Ala	p.T462A	ENST00000376352	NM_178509.5	462	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS11584.2	1384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGACTTCC	NONE	.	.	hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16	.	.	ENSP00000365530	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000376352	Transcript	.	.	ENSG00000166263	19694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.5)	.	STXB4_HUMAN	STXBP4	HGNC	.	.	UPI000050D3EE	SNV	STXBP4,missense_variant,p.Thr462Ala,ENST00000376352,;STXBP4,missense_variant,p.Thr440Ala,ENST00000434978,;	1591	100	122	SUCCESS
USP32	84669	.	GRCh37	17	58260713	58260713	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	80	105	0	ENST00000300896.4:c.3936G>T	p.Leu1312Phe	p.L1312F	ENST00000300896	NM_032582.3	1312	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS32697.1	3936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACCAAAAA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	.	.	ENSP00000300896	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000300896	Transcript	.	.	ENSG00000170832	19143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	UBP32_HUMAN	USP32	HGNC	Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN	.	UPI0000047AF8	SNV	USP32,missense_variant,p.Leu982Phe,ENST00000592339,;USP32,missense_variant,p.Leu1312Phe,ENST00000300896,;USP32,upstream_gene_variant,,ENST00000593071,;USP32,non_coding_transcript_exon_variant,,ENST00000586238,;	4131	105	153	SUCCESS
TP53	7157	.	GRCh37	17	7577114	7577114	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs863224451	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	77	0	ENST00000269305.4:c.824G>A	p.Cys275Tyr	p.C275Y	ENST00000269305	NM_001126112.2	275	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS11118.1	824	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCACAAACA	SITE|p.C275Y|c.824G>A|5,SITE|p.C275Y|c.824G>A|54,SITE|p.C275Y|c.824G>A|5,SITE|p.C275Y|c.824G>A|11,CODON|p.0?|c.1_1182del1182|6,CODON|p.C275C|c.825T>C|4,CODON|p.C275W|c.825T>G|8,CODON|p.C275*|c.825T>A|3,CODON|p.C275F|c.824G>T|10,CODON|p.C275S|c.824G>C|4,CODON|p.C275F|c.824G>T|43,CODON|p.C275F|c.824G>T|5,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277*|c.831T>A|6,BUFFER|p.C277C|c.831T>C|4,BUFFER|p.C277Y|c.830G>A|15,BUFFER|p.C277F|c.830G>T|22,BUFFER|p.C277G|c.829T>G|5,BUFFER|p.A276D|c.827C>A|9,BUFFER|p.A276G|c.827C>G|4,BUFFER|p.A276D|c.827C>A|3,BUFFER|p.A276V|c.827C>T|7,BUFFER|p.A276P|c.826G>C|3,BUFFER|p.A276T|c.826G>A|7,BUFFER|p.A276S|c.826G>T|9,BUFFER|p.A276P|c.826G>C|16,BUFFER|p.C275G|c.823T>G|7,BUFFER|p.C275R|c.823T>C|8,BUFFER|p.V274A|c.821T>C|8,BUFFER|p.V274A|c.821T>C|22,BUFFER|p.V274G|c.821T>G|8,BUFFER|p.V274D|c.821T>A|3,BUFFER|p.V274D|c.821T>A|10,BUFFER|p.V274F|c.820G>T|8,BUFFER|p.V274I|c.820G>A|4,BUFFER|p.V274L|c.820G>C|11,BUFFER|p.V274F|c.820G>T|3,BUFFER|p.V274F|c.820G>T|23,BUFFER|p.R273L|c.818G>T|98,BUFFER|p.R273P|c.818G>C|4,BUFFER|p.R273H|c.818G>A|116,BUFFER|p.R273H|c.818G>A|64,BUFFER|p.R273H|c.818G>A|588,BUFFER|p.R273L|c.818G>T|5,BUFFER|p.R273H|c.818G>A|83,BUFFER|p.R273P|c.818G>C|29,BUFFER|p.R273L|c.818G>T|18,BUFFER|p.R273L|c.818G>T|12,BUFFER|p.R273S|c.817C>A|4,BUFFER|p.R273C|c.817C>T|131,BUFFER|p.R273C|c.817C>T|571,BUFFER|p.R273C|c.817C>T|75,BUFFER|p.R273G|c.817C>G|10,BUFFER|p.R273S|c.817C>A|15,BUFFER|p.R273C|c.817C>T|59,BUFFER|p.V272E|c.815T>A|9,BUFFER|p.V272G|c.815T>G|7,BUFFER|p.V272A|c.815T>C|7,BUFFER|p.V272fs*73|c.814delG|3,BUFFER|p.V272L|c.814G>T|24,BUFFER|p.V272L|c.814G>T|4,BUFFER|p.V272M|c.814G>A|11,BUFFER|p.V272M|c.814G>A|84,BUFFER|p.V272M|c.814G>A|6,BUFFER|p.V272M|c.814G>A|22,BUFFER|p.V272L|c.814G>C|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM951234,CM076568,TP53_g.13804G>A,TP53_g.13804del,TP53_g.13804G>C,TP53_g.13804G>T,COSM10701,COSM10893,COSM45413,COSM44178,COSM165084,COSM99932,COSM1167915,COSM318164,COSM3403255,COSM3723938,COSM1637959,COSM2744531,COSM1728541	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.994)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Cys275Tyr,ENST00000420246,;TP53,missense_variant,p.Cys275Tyr,ENST00000269305,;TP53,missense_variant,p.Cys143Tyr,ENST00000509690,;TP53,missense_variant,p.Cys275Tyr,ENST00000359597,;TP53,missense_variant,p.Cys275Tyr,ENST00000445888,;TP53,missense_variant,p.Cys275Tyr,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1014	77	49	SUCCESS
CNTROB	116840	.	GRCh37	17	7851880	7851898	+	frameshift_variant	Frame_Shift_Del	DEL	GGGGGGCTCTGCCTGCTGA	GGGGGGCTCTGCCTGCTGA	-	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	GGGGGGCTCTGCCTGCTGA	GGGGGGCTCTGCCTGCTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	152	0	ENST00000563694.1:c.2458_2476del	p.Gly820IlefsTer6	p.G820Ifs*6	ENST00000563694	NM_053051.3	819	tGGGGGGCTCTGCCTGCTGAg/tg	0	.	.	.	.	.	-	WGALPAE/X	protein_coding	YES	CCDS32557.1	2456-2474	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGGCTGGGGGGCTCTGCCTGCTGAGGATC	NONE	.	.	.	.	.	ENSP00000369614	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000380262	Transcript	.	.	ENSG00000170037	29616	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNTRB_HUMAN	CNTROB	HGNC	I3L465_HUMAN,I3L1Z8_HUMAN,I3L1B0_HUMAN	.	UPI00005DB2E1	deletion	CNTROB,frameshift_variant,p.Gly820IlefsTer6,ENST00000380262,;CNTROB,frameshift_variant,p.Gly138IlefsTer6,ENST00000576536,;CNTROB,frameshift_variant,p.Gly820IlefsTer6,ENST00000563694,;CNTROB,frameshift_variant,p.Gly820IlefsTer6,ENST00000565740,;CNTROB,3_prime_UTR_variant,,ENST00000380255,;CNTROB,3_prime_UTR_variant,,ENST00000571632,;CNTROB,non_coding_transcript_exon_variant,,ENST00000576723,;CNTROB,downstream_gene_variant,,ENST00000576922,;CNTROB,downstream_gene_variant,,ENST00000573862,;CNTROB,downstream_gene_variant,,ENST00000574430,;	3381-3399	152	101	SUCCESS
MYOM1	8736	.	GRCh37	18	3134722	3134722	+	synonymous_variant	Silent	SNP	C	C	A	rs769216946	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	79	83	0	ENST00000356443.4:c.2310G>T	p.Gly770=	p.G770=	ENST00000356443	NM_019856.1	770	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS45824.1	2310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTACCCGAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF36,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000348821	.	16/38	.	.	.	.	.	.	.	.	rs769216946	16/38	PASS	ENST00000356443	Transcript	.	.	ENSG00000101605	7613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOM1_HUMAN	MYOM1	HGNC	.	.	UPI000022A657	SNV	MYOM1,synonymous_variant,p.%3D,ENST00000356443,;MYOM1,synonymous_variant,p.%3D,ENST00000400569,;MYOM1,synonymous_variant,p.%3D,ENST00000261606,;MYOM1,downstream_gene_variant,,ENST00000577294,;	2644	83	180	SUCCESS
ADNP2	22850	.	GRCh37	18	77896513	77896513	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1017394520	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	58	0	ENST00000262198.4:c.3217A>G	p.Ile1073Val	p.I1073V	ENST00000262198	NM_014913.3	1073	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32853.1	3217	MUTECT|MUSE	.	AGGAAATAGAA	NONE	.	.	hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000262198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262198	Transcript	.	.	ENSG00000101544	23803	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.65)	.	ADNP2_HUMAN	ADNP2	HGNC	H0YLN6_HUMAN	.	UPI0000071DEA	SNV	ADNP2,missense_variant,p.Ile1073Val,ENST00000262198,;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;ADNP2,downstream_gene_variant,,ENST00000560752,;	3672	58	55	SUCCESS
PALM	5064	.	GRCh37	19	746557	746557	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1381627131	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	78	0	ENST00000338448.5:c.907A>G	p.Met303Val	p.M303V	ENST00000338448	NM_002579.2	303	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS32857.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCATGGGT	NONE	.	.	hmmpanther:PTHR10498:SF9,hmmpanther:PTHR10498,Pfam_domain:PF03285	.	.	ENSP00000341911	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000338448	Transcript	.	.	ENSG00000099864	8594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0)	.	PALM_HUMAN	PALM	HGNC	B7Z6Y8_HUMAN	.	UPI0000001616	SNV	PALM,missense_variant,p.Met303Val,ENST00000338448,;PALM,missense_variant,p.Met259Val,ENST00000264560,;MISP,upstream_gene_variant,,ENST00000215582,;PALM,non_coding_transcript_exon_variant,,ENST00000592155,;PALM,non_coding_transcript_exon_variant,,ENST00000587513,;PALM,non_coding_transcript_exon_variant,,ENST00000593172,;PALM,non_coding_transcript_exon_variant,,ENST00000590161,;	953	78	51	SUCCESS
AP4B1	10717	.	GRCh37	1	114442411	114442411	+	intron_variant	Intron	SNP	T	T	C	rs752380139	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	28	0	ENST00000256658.4:c.1114+115A>G		p.*372*	ENST00000256658	NM_006594.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS865.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATAGTAC	NONE	byFrequency	.	.	.	.	ENSP00000358582	.	.	.	.	.	.	.	.	.	.	rs752380139	.	PASS	ENST00000369569	Transcript	.	.	ENSG00000134262	572	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP4B1_HUMAN	AP4B1	HGNC	B1ALD2_HUMAN	.	UPI0000072F63	SNV	AP4B1,3_prime_UTR_variant,,ENST00000369566,;AP4B1,intron_variant,,ENST00000256658,;AP4B1,intron_variant,,ENST00000369567,;AP4B1,intron_variant,,ENST00000369569,;AP4B1,downstream_gene_variant,,ENST00000432415,;AP4B1,downstream_gene_variant,,ENST00000369564,;AP4B1,downstream_gene_variant,,ENST00000369571,;AP4B1-AS1,intron_variant,,ENST00000419536,;AP4B1,intron_variant,,ENST00000484201,;AP4B1,intron_variant,,ENST00000479285,;AP4B1,intron_variant,,ENST00000460653,;AP4B1,upstream_gene_variant,,ENST00000479801,;AP4B1,downstream_gene_variant,,ENST00000489092,;AP4B1,downstream_gene_variant,,ENST00000489499,;AP4B1,downstream_gene_variant,,ENST00000472122,;AP4B1,upstream_gene_variant,,ENST00000462591,;	.	28	17	SUCCESS
SLC22A15	55356	.	GRCh37	1	116574033	116574033	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	105	0	ENST00000369503.4:c.775A>C	p.Ser259Arg	p.S259R	ENST00000369503	NM_018420.2	259	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS44198.1	775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGAGTGAG	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF170,hmmpanther:PTHR24064,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000358515	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000369503	Transcript	.	.	ENSG00000163393	20301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.36)	.	S22AF_HUMAN	SLC22A15	HGNC	B3KWH0_HUMAN	.	UPI000007412F	SNV	SLC22A15,stop_lost,p.Ter246CysextTer23,ENST00000369502,;SLC22A15,missense_variant,p.Ser259Arg,ENST00000369503,;SLC22A15,upstream_gene_variant,,ENST00000481127,;	905	105	92	SUCCESS
FLG	2312	.	GRCh37	1	152279556	152279556	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	51	127	0	ENST00000368799.1:c.7806C>A	p.Gly2602=	p.G2602=	ENST00000368799	NM_002016.1	2602	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30860.1	7806	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAGCCATC	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	7842	127	143	SUCCESS
LCE1E	353135	.	GRCh37	1	152760020	152760020	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs772855523	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	80	135	1	ENST00000368770.3:c.245A>G	p.His82Arg	p.H82R	ENST00000368770	NM_178353.1	82	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS1024.1	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCACCACA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000357759	.	2/2	.	.	.	.	.	.	.	.	rs772855523	2/2	PASS	ENST00000368770	Transcript	.	.	ENSG00000186226	29466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.78)	.	LCE1E_HUMAN	LCE1E	HGNC	.	.	UPI0000161050	SNV	LCE1E,missense_variant,p.His82Arg,ENST00000368771,;LCE1E,missense_variant,p.His82Arg,ENST00000368770,;	298	136	174	SUCCESS
FCRL5	83416	.	GRCh37	1	157516904	157516904	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748956535	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	5	46	0	ENST00000361835.3:c.136G>A	p.Gly46Arg	p.G46R	ENST00000361835	NM_001195388.1	46	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS1165.1	136	MUTECT|MUSE	.	AAATCCCTTGC	BUFFER|p.R48C|c.142C>T|3	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	3/17	.	.	.	.	.	.	.	.	rs748956535	3/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.411)	.	tolerated(0.07)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Gly46Arg,ENST00000361835,;FCRL5,missense_variant,p.Gly46Arg,ENST00000368190,;FCRL5,missense_variant,p.Gly46Arg,ENST00000368189,;FCRL5,missense_variant,p.Gly46Arg,ENST00000356953,;FCRL5,missense_variant,p.Gly46Arg,ENST00000368188,;FCRL5,intron_variant,,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000481082,;	294	46	80	SUCCESS
FCRL6	343413	.	GRCh37	1	159778188	159778188	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	160	128	278	0	ENST00000368106.3:c.273A>C	p.Pro91=	p.P91=	ENST00000368106	NM_001004310.2	91	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS30912.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCACAGAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357086	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000368106	Transcript	.	.	ENSG00000181036	31910	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL6_HUMAN	FCRL6	HGNC	.	.	UPI0000D62020	SNV	FCRL6,synonymous_variant,p.%3D,ENST00000392235,;FCRL6,synonymous_variant,p.%3D,ENST00000536257,;FCRL6,synonymous_variant,p.%3D,ENST00000339348,;FCRL6,synonymous_variant,p.%3D,ENST00000321935,;FCRL6,synonymous_variant,p.%3D,ENST00000368106,;FCRL6,non_coding_transcript_exon_variant,,ENST00000541729,;FCRL6,non_coding_transcript_exon_variant,,ENST00000540741,;	274	279	288	SUCCESS
PLEKHA6	22874	.	GRCh37	1	204192627	204192627	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs201146402	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	12	135	0	ENST00000272203.3:c.3118G>T	p.Ala1040Ser	p.A1040S	ENST00000272203	NM_014935.4	1040	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS1444.1	3118	MUTECT|MUSE|VARSCANS	.	GTCGGCGCCCC	NONE	.	.	hmmpanther:PTHR12752:SF5,hmmpanther:PTHR12752	.	.	ENSP00000272203	.	22/23	.	.	.	.	.	.	.	.	rs201146402	22/23	PASS	ENST00000272203	Transcript	.	.	ENSG00000143850	17053	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.216)	.	tolerated_low_confidence(0.09)	.	PKHA6_HUMAN	PLEKHA6	HGNC	.	.	UPI000013D935	SNV	PLEKHA6,missense_variant,p.Ala1060Ser,ENST00000414478,;PLEKHA6,missense_variant,p.Ala1040Ser,ENST00000272203,;	3435	135	142	SUCCESS
USH2A	7399	.	GRCh37	1	215808006	215808006	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs755653202	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	15	85	0	ENST00000307340.3:c.15092G>T	p.Arg5031Leu	p.R5031L	ENST00000307340	NM_206933.2	5031	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS31025.1	15092	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCGCGAT	NONE	byFrequency	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	.	.	ENSP00000305941	.	70/72	.	.	.	.	.	.	.	.	rs755653202	70/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Arg5031Leu,ENST00000366943,;USH2A,missense_variant,p.Arg5031Leu,ENST00000307340,;SNORD116,upstream_gene_variant,,ENST00000365628,;	15479	85	141	SUCCESS
NID1	4811	.	GRCh37	1	236193033	236193033	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	70	0	ENST00000264187.6:c.1555C>T	p.Gln519Ter	p.Q519*	ENST00000264187	NM_002508.2	519	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS1608.1	1555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGGCGAG	NONE	.	.	PROSITE_profiles:PS50993,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,Pfam_domain:PF07474,Gene3D:2.40.155.10,SMART_domains:SM00682,Superfamily_domains:SSF54511	.	.	ENSP00000264187	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000264187	Transcript	.	.	ENSG00000116962	7821	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NID1_HUMAN	NID1	HGNC	.	.	UPI000013D4D9	SNV	NID1,stop_gained,p.Gln519Ter,ENST00000264187,;NID1,stop_gained,p.Gln519Ter,ENST00000366595,;	1638	70	57	SUCCESS
ZNF683	257101	.	GRCh37	1	26694244	26694244	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	97	0	ENST00000403843.1:c.159T>C	p.His53=	p.H53=	ENST00000403843		53	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS279.2	159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCATGAGC	NONE	.	.	hmmpanther:PTHR23228:SF112,hmmpanther:PTHR23228	.	.	ENSP00000363320	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000374204	Transcript	.	.	ENSG00000176083	28495	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN683_HUMAN	ZNF683	HGNC	.	.	UPI000006F8C4	SNV	ZNF683,synonymous_variant,p.%3D,ENST00000451801,;ZNF683,synonymous_variant,p.%3D,ENST00000349618,;ZNF683,synonymous_variant,p.%3D,ENST00000436292,;ZNF683,synonymous_variant,p.%3D,ENST00000403843,;ZNF683,synonymous_variant,p.%3D,ENST00000455900,;ZNF683,synonymous_variant,p.%3D,ENST00000416125,;ZNF683,synonymous_variant,p.%3D,ENST00000374204,;ZNF683,synonymous_variant,p.%3D,ENST00000423508,;ZNF683,intron_variant,,ENST00000454975,;ZNF683,intron_variant,,ENST00000453132,;	277	97	75	SUCCESS
PUM1	9698	.	GRCh37	1	31438867	31438867	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	13	112	0	ENST00000257075.5:c.2048C>T	p.Ala683Val	p.A683V	ENST00000257075	NM_014676.2	683	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS44099.1	2048	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGCGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1	.	.	ENSP00000391723	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000426105	Transcript	.	.	ENSG00000134644	14957	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.772)	.	tolerated(0.09)	.	PUM1_HUMAN	PUM1	HGNC	E9PL65_HUMAN	.	UPI0000203D8E	SNV	PUM1,missense_variant,p.Ala683Val,ENST00000426105,;PUM1,missense_variant,p.Ala441Val,ENST00000424085,;PUM1,missense_variant,p.Ala539Val,ENST00000423018,;PUM1,missense_variant,p.Ala683Val,ENST00000257075,;PUM1,missense_variant,p.Ala701Val,ENST00000525843,;PUM1,missense_variant,p.Ala684Val,ENST00000373747,;PUM1,missense_variant,p.Ala624Val,ENST00000373742,;PUM1,missense_variant,p.Ala657Val,ENST00000440538,;PUM1,missense_variant,p.Ala719Val,ENST00000373741,;PUM1,missense_variant,p.Ala395Val,ENST00000498419,;PUM1,downstream_gene_variant,,ENST00000532678,;SNORD85,downstream_gene_variant,,ENST00000363311,;PUM1,downstream_gene_variant,,ENST00000490546,;PUM1,non_coding_transcript_exon_variant,,ENST00000498627,;PUM1,non_coding_transcript_exon_variant,,ENST00000471894,;PUM1,upstream_gene_variant,,ENST00000527498,;	2139	112	122	SUCCESS
ATG4C	84938	.	GRCh37	1	63294791	63294791	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	99	0	ENST00000317868.4:c.877G>T	p.Val293Phe	p.V293F	ENST00000317868	NM_032852.3	293	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS623.1	877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAGTTCCT	NONE	.	.	hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF38,Pfam_domain:PF03416,Superfamily_domains:SSF54001	.	.	ENSP00000322159	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000317868	Transcript	.	.	ENSG00000125703	16040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	deleterious(0)	.	ATG4C_HUMAN	ATG4C	HGNC	C9JC51_HUMAN,A6NGQ4_HUMAN	.	UPI000000DC9F	SNV	ATG4C,missense_variant,p.Val293Phe,ENST00000317868,;ATG4C,missense_variant,p.Val37Phe,ENST00000414558,;ATG4C,missense_variant,p.Val293Phe,ENST00000371120,;	1084	99	106	SUCCESS
ZNFX1	57169	.	GRCh37	20	47864862	47864862	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	32	80	0	ENST00000371752.1:c.4699A>G	p.Met1567Val	p.M1567V	ENST00000371752		1567	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS13417.1	4699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCATGTGGC	NONE	.	.	.	.	.	ENSP00000379412	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000396105	Transcript	.	.	ENSG00000124201	29271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.58)	.	ZNFX1_HUMAN	ZNFX1	HGNC	Q5JXR5_HUMAN	.	UPI000012DD83	SNV	ZNFX1,missense_variant,p.Met1567Val,ENST00000371752,;ZNFX1,missense_variant,p.Met1567Val,ENST00000396105,;ZNFX1,intron_variant,,ENST00000371754,;DDX27,downstream_gene_variant,,ENST00000371764,;DDX27,downstream_gene_variant,,ENST00000471144,;DDX27,downstream_gene_variant,,ENST00000484427,;ZNFX1,upstream_gene_variant,,ENST00000469991,;	4946	80	66	SUCCESS
IGLV2-23	28813	.	GRCh37	22	23040653	23040653	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	53	0	ENST00000390306.2:c.101G>A	p.Gly34Glu	p.G34E	ENST00000390306		34	gGa/gAa	0	.	.	.	.	.	A	G/E	IG_V_gene	YES	.	101	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGACAGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF138,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000374841	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390306	Transcript	.	.	ENSG00000211660	5890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.529)	.	deleterious_low_confidence(0.01)	.	.	IGLV2-23	HGNC	.	.	UPI000173A2CA	SNV	IGLV2-23,missense_variant,p.Gly34Glu,ENST00000390306,;D86994.1,downstream_gene_variant,,ENST00000385095,;LL22NC03-102D1.18,upstream_gene_variant,,ENST00000438185,;IGLVVI-22-1,upstream_gene_variant,,ENST00000521183,;IGLV3-24,downstream_gene_variant,,ENST00000517477,;	263	53	47	SUCCESS
DEPDC5	9681	.	GRCh37	22	32234735	32234735	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	81	0	ENST00000400246.1:c.2419C>T	p.Leu807Phe	p.L807F	ENST00000400246		807	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46692.1	2392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGTCTCATG	NONE	.	.	hmmpanther:PTHR13179	.	.	ENSP00000371546	.	26/42	.	.	.	.	.	.	.	.	.	26/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,missense_variant,p.Leu807Phe,ENST00000266091,;DEPDC5,missense_variant,p.Leu798Phe,ENST00000400248,;DEPDC5,missense_variant,p.Leu798Phe,ENST00000400249,;DEPDC5,missense_variant,p.Leu729Phe,ENST00000382105,;DEPDC5,missense_variant,p.Leu798Phe,ENST00000382112,;DEPDC5,missense_variant,p.Leu807Phe,ENST00000400246,;DEPDC5,missense_variant,p.Leu807Phe,ENST00000382111,;DEPDC5,missense_variant,p.Leu205Phe,ENST00000433147,;DEPDC5,missense_variant,p.Leu729Phe,ENST00000535622,;DEPDC5,downstream_gene_variant,,ENST00000536766,;RNU6-201P,downstream_gene_variant,,ENST00000517100,;DEPDC5,downstream_gene_variant,,ENST00000462414,;DEPDC5,missense_variant,p.Leu159Phe,ENST00000448753,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000471914,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000490731,;DEPDC5,downstream_gene_variant,,ENST00000494065,;	2462	81	55	SUCCESS
MCHR1	2847	.	GRCh37	22	41075734	41075734	+	synonymous_variant	Silent	SNP	G	G	T	rs201514957	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	60	0	ENST00000249016.4:c.285G>T	p.Ser95=	p.S95=	ENST00000249016	NM_005297.3	95	tcG/tcT	0	A:0	.	.	.	.	T	S	protein_coding	YES	CCDS14004.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCGGCAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF17	.	A:0.0003	ENSP00000249016	.	1/2	.	.	.	.	.	.	.	.	rs201514957	1/2	PASS	ENST00000249016	Transcript	.	.	ENSG00000128285	4479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCHR1_HUMAN	MCHR1	HGNC	Q5IFI4_HUMAN	.	UPI0000073C67	SNV	MCHR1,synonymous_variant,p.%3D,ENST00000381433,;MCHR1,synonymous_variant,p.%3D,ENST00000249016,;MCHR1,intron_variant,,ENST00000498400,;MCHR1,upstream_gene_variant,,ENST00000465662,;	981	60	58	SUCCESS
LDOC1L	0	.	GRCh37	22	44893693	44893693	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	36	0	ENST00000341255.3:c.-255-2A>T		p.X85_splice	ENST00000341255	NM_032287.2	85		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33662.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTGGAGG	NONE	.	.	.	.	.	ENSP00000340434	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341255	Transcript	.	.	ENSG00000188636	13343	.	.	HIGH	1/1	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LDOCL_HUMAN	LDOC1L	HGNC	.	.	UPI0000207957	SNV	LDOC1L,splice_acceptor_variant,,ENST00000341255,;	.	36	44	SUCCESS
PKDREJ	10343	.	GRCh37	22	46656728	46656728	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	71	0	ENST00000253255.5:c.2492T>C	p.Phe831Ser	p.F831S	ENST00000253255	NM_006071.1	831	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS14073.1	2492	MUTECT|MUSE	.	CATAGAAAGGA	NONE	.	.	PROSITE_profiles:PS51111,hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877	.	.	ENSP00000253255	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000253255	Transcript	.	.	ENSG00000130943	9015	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.261)	.	deleterious(0.02)	.	PKDRE_HUMAN	PKDREJ	HGNC	A6MW40_HUMAN	.	UPI0000031D01	SNV	PKDREJ,missense_variant,p.Phe831Ser,ENST00000253255,;	2492	71	57	SUCCESS
RGPD4	285190	.	GRCh37	2	108487761	108487761	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs556511922	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	12	0	ENST00000408999.3:c.3301C>G	p.Arg1101Gly	p.R1101G	ENST00000408999	NM_182588.2	1101	Cga/Gga	0	.	T:0.0008	.	T:0	.	G	R/G	protein_coding	YES	CCDS46381.1	3301	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCGAAGA	NONE	by1000G	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	T:0	.	ENSP00000386810	T:0	20/23	.	.	.	.	.	.	.	.	rs556511922	20/23	PASS	ENST00000408999	Transcript	.	T:0.0002	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	T:0	deleterious(0)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Arg1101Gly,ENST00000408999,;RGPD4,missense_variant,p.Arg1101Gly,ENST00000354986,;	3378	12	23	SUCCESS
TTN	7273	.	GRCh37	2	179427137	179427137	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	30	0	ENST00000591111.1:c.78799G>A	p.Glu26267Lys	p.E26267K	ENST00000591111		26267	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS59435.1	83722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCACTCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	326/363	.	.	.	.	.	.	.	.	.	326/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu18968Lys,ENST00000359218,;TTN,missense_variant,p.Glu26267Lys,ENST00000591111,;TTN,missense_variant,p.Glu27908Lys,ENST00000589042,;TTN,missense_variant,p.Glu19035Lys,ENST00000342175,;TTN,missense_variant,p.Glu25340Lys,ENST00000342992,;TTN,missense_variant,p.Glu18843Lys,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	83947	30	61	SUCCESS
MSTN	2660	.	GRCh37	2	190922105	190922105	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	50	0	ENST00000260950.4:c.1007C>G	p.Ala336Gly	p.A336G	ENST00000260950	NM_005259.2	336	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS2303.1	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGCTGAA	NONE	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF13,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000260950	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000260950	Transcript	.	.	ENSG00000138379	4223	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.01)	.	GDF8_HUMAN	MSTN	HGNC	Q53S46_HUMAN	.	UPI0000037254	SNV	MSTN,missense_variant,p.Ala336Gly,ENST00000260950,;C2orf88,intron_variant,,ENST00000495546,;C2orf88,intron_variant,,ENST00000478197,;	1140	50	73	SUCCESS
ALS2CR11	0	.	GRCh37	2	202436741	202436741	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	35	0	ENST00000439140.1:c.756A>G		p.X252_splice	ENST00000439140	NM_001168221.1	252	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS54430.1	756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTTAACTG	NONE	.	.	hmmpanther:PTHR21665:SF2,hmmpanther:PTHR21665	.	.	ENSP00000409937	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000439140	Transcript	.	.	ENSG00000155754	14438	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL2SA_HUMAN	ALS2CR11	HGNC	Q96Q36_HUMAN	.	UPI000198C657	SNV	ALS2CR11,synonymous_variant,p.%3D,ENST00000450242,;ALS2CR11,synonymous_variant,p.%3D,ENST00000439802,;ALS2CR11,synonymous_variant,p.%3D,ENST00000439140,;ALS2CR11,synonymous_variant,p.%3D,ENST00000286195,;	801	35	50	SUCCESS
NRP2	8828	.	GRCh37	2	206581088	206581088	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	58	0	ENST00000360409.3:c.423C>A	p.Ile141=	p.I141=	ENST00000360409	NM_003872.2	141	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS2364.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGATCTTCAA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF30,hmmpanther:PTHR10127,PIRSF_domain:PIRSF036960,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000353582	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000360409	Transcript	.	.	ENSG00000118257	8005	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRP2_HUMAN	NRP2	HGNC	C9JH98_HUMAN	.	UPI000014020F	SNV	NRP2,synonymous_variant,p.%3D,ENST00000360409,;NRP2,synonymous_variant,p.%3D,ENST00000357118,;NRP2,synonymous_variant,p.%3D,ENST00000355117,;NRP2,synonymous_variant,p.%3D,ENST00000540178,;NRP2,synonymous_variant,p.%3D,ENST00000357785,;NRP2,synonymous_variant,p.%3D,ENST00000540841,;NRP2,synonymous_variant,p.%3D,ENST00000417189,;NRP2,synonymous_variant,p.%3D,ENST00000412873,;NRP2,synonymous_variant,p.%3D,ENST00000272849,;NRP2,downstream_gene_variant,,ENST00000450507,;	1214	58	51	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209218741	209218741	+	synonymous_variant	Silent	SNP	A	A	G	rs774554872	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	93	0	ENST00000264380.4:c.5964A>G	p.Leu1988=	p.L1988=	ENST00000264380	NM_015040.3	1988	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS2382.1	5964	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATATAT	NONE	.	.	Superfamily_domains:SSF56104,SMART_domains:SM00330,Gene3D:1bo1A02,Pfam_domain:PF01504,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353,PROSITE_profiles:PS51455	.	.	ENSP00000264380	.	40/42	.	.	.	.	.	.	.	.	rs774554872	40/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,synonymous_variant,p.%3D,ENST00000264380,;	6122	93	89	SUCCESS
CPS1	1373	.	GRCh37	2	211421331	211421331	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	33	0	ENST00000233072.5:c.-127C>T		p.*43*	ENST00000233072	NM_001875.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46505.1	.	MUTECT|MUSE	.	GATCGCTGTGC	NONE	.	.	.	.	.	ENSP00000402608	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000430249	Transcript	.	.	ENSG00000021826	2323	.	.	MODIFIER	1/38	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPSM_HUMAN	CPS1	HGNC	Q5R207_HUMAN,E7EWJ3_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	.	UPI000166C19F	SNV	CPS1,5_prime_UTR_variant,,ENST00000233072,;CPS1,intron_variant,,ENST00000417946,;CPS1,intron_variant,,ENST00000430249,;CPS1,intron_variant,,ENST00000518043,;CPS1,intron_variant,,ENST00000523702,;	.	33	43	SUCCESS
PAX3	5077	.	GRCh37	2	223163413	223163413	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	21	0	ENST00000350526.4:c.-79C>A		p.*27*	ENST00000350526	NM_181457.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2448.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTCGGGAACT	NONE	.	.	.	.	.	ENSP00000375921	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,5_prime_UTR_variant,,ENST00000392070,;PAX3,5_prime_UTR_variant,,ENST00000336840,;PAX3,5_prime_UTR_variant,,ENST00000258387,;PAX3,5_prime_UTR_variant,,ENST00000392069,;PAX3,5_prime_UTR_variant,,ENST00000344493,;PAX3,5_prime_UTR_variant,,ENST00000409551,;PAX3,5_prime_UTR_variant,,ENST00000409828,;PAX3,5_prime_UTR_variant,,ENST00000350526,;CCDC140,intron_variant,,ENST00000295226,;CCDC140,upstream_gene_variant,,ENST00000440903,;	288	21	28	SUCCESS
TRPM8	79054	.	GRCh37	2	234875362	234875362	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	43	0	ENST00000324695.4:c.1988C>T	p.Ala663Val	p.A663V	ENST00000324695	NM_024080.4	663	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33407.1	1988	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCCACAG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	.	.	ENSP00000323926	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000324695	Transcript	.	.	ENSG00000144481	17961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.464)	.	deleterious(0)	.	TRPM8_HUMAN	TRPM8	HGNC	.	.	UPI0000456F32	SNV	TRPM8,missense_variant,p.Ala663Val,ENST00000324695,;TRPM8,missense_variant,p.Ala34Val,ENST00000456930,;TRPM8,missense_variant,p.Ala351Val,ENST00000433712,;TRPM8,upstream_gene_variant,,ENST00000475044,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,non_coding_transcript_exon_variant,,ENST00000477698,;TRPM8,non_coding_transcript_exon_variant,,ENST00000490797,;	2028	43	65	SUCCESS
TCF23	150921	.	GRCh37	2	27372096	27372096	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	92	0	ENST00000296096.5:c.95G>A	p.Arg32Lys	p.R32K	ENST00000296096	NM_175769.2	32	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS33163.1	95	MUTECT|MUSE	.	TGACAGGAAGA	NONE	.	.	hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF43	.	.	ENSP00000296096	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000296096	Transcript	.	.	ENSG00000163792	18602	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.013)	.	tolerated(0.16)	.	TCF23_HUMAN	TCF23	HGNC	.	.	UPI00001AEC06	SNV	TCF23,missense_variant,p.Arg32Lys,ENST00000296096,;TCF23,non_coding_transcript_exon_variant,,ENST00000407815,;	225	92	103	SUCCESS
AFTPH	54812	.	GRCh37	2	64779926	64779926	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	66	0	ENST00000238855.7:c.1318T>G	p.Ser440Ala	p.S440A	ENST00000238855	NM_203437.3	440	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS46303.1	1318	MUTECT|MUSE	.	TTGGCTCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156	.	.	ENSP00000238855	.	2/10	.	.	.	.	.	.	.	.	COSM1632077,COSM1632076	2/10	PASS	ENST00000238855	Transcript	.	.	ENSG00000119844	25951	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.09)	.	deleterious(0.02)	1,1	AFTIN_HUMAN	AFTPH	HGNC	.	.	UPI00003E1F8E	SNV	AFTPH,missense_variant,p.Ser440Ala,ENST00000422803,;AFTPH,missense_variant,p.Ser71Ala,ENST00000409183,;AFTPH,missense_variant,p.Ser440Ala,ENST00000409933,;AFTPH,missense_variant,p.Ser440Ala,ENST00000238855,;AFTPH,missense_variant,p.Ser440Ala,ENST00000238856,;AFTPH,upstream_gene_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;	1632	66	66	SUCCESS
ASPRV1	151516	.	GRCh37	2	70188307	70188356	+	frameshift_variant	Frame_Shift_Del	DEL	AGGCCTTCAGGAGGGCCTCTTTCACAGTCCCATAGTCTCCCTGGTCCTGG	AGGCCTTCAGGAGGGCCTCTTTCACAGTCCCATAGTCTCCCTGGTCCTGG	-	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	AGGCCTTCAGGAGGGCCTCTTTCACAGTCCCATAGTCTCCCTGGTCCTGG	AGGCCTTCAGGAGGGCCTCTTTCACAGTCCCATAGTCTCCCTGGTCCTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	43	33	58	0	ENST00000320256.4:c.465_514del	p.Gln156TrpfsTer22	p.Q156Wfs*22	ENST00000320256	NM_152792.2	155	ccCCAGGACCAGGGAGACTATGGGACTGTGAAAGAGGCCCTCCTGAAGGCCTtt/cctt	0	.	.	.	.	.	-	PQDQGDYGTVKEALLKAF/PX	protein_coding	YES	CCDS1897.1	465-514	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCAAAGGCCTTCAGGAGGGCCTCTTTCACAGTCCCATAGTCTCCCTGGTCCTGGGGACT	NONE	.	.	.	.	.	ENSP00000315383	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320256	Transcript	.	.	ENSG00000244617	26321	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APRV1_HUMAN	ASPRV1	HGNC	.	.	UPI0000140820	deletion	ASPRV1,frameshift_variant,p.Gln156TrpfsTer22,ENST00000320256,;PCBP1-AS1,downstream_gene_variant,,ENST00000413436,;PCBP1-AS1,downstream_gene_variant,,ENST00000457076,;PCBP1-AS1,downstream_gene_variant,,ENST00000418564,;PCBP1-AS1,downstream_gene_variant,,ENST00000415222,;PCBP1-AS1,downstream_gene_variant,,ENST00000435880,;PCBP1-AS1,downstream_gene_variant,,ENST00000596259,;PCBP1-AS1,downstream_gene_variant,,ENST00000419542,;	1042-1091	58	76	SUCCESS
TGOLN2	10618	.	GRCh37	2	85554158	85554158	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	71	0	ENST00000409232.3:c.697G>A	p.Asp233Asn	p.D233N	ENST00000409232		233	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS56126.1	697	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTCTATTG	NONE	.	.	hmmpanther:PTHR23211	.	.	ENSP00000386443	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000409232	Transcript	.	.	ENSG00000152291	15450	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.981)	.	tolerated(0.13)	.	.	TGOLN2	HGNC	F8WBK2_HUMAN	.	UPI000020880A	SNV	TGOLN2,missense_variant,p.Asp233Asn,ENST00000398263,;TGOLN2,missense_variant,p.Asp233Asn,ENST00000409232,;TGOLN2,missense_variant,p.Asp135Asn,ENST00000282120,;TGOLN2,missense_variant,p.Asp233Asn,ENST00000444342,;TGOLN2,missense_variant,p.Asp233Asn,ENST00000409015,;TGOLN2,missense_variant,p.Asp233Asn,ENST00000377386,;	759	71	55	SUCCESS
NCAPH	23397	.	GRCh37	2	97017638	97017638	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1475474227	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	66	0	ENST00000240423.4:c.790A>G	p.Thr264Ala	p.T264A	ENST00000240423	NM_001281711.1	264	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2021.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCACTCTC	NONE	.	.	hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126	.	.	ENSP00000240423	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000240423	Transcript	.	.	ENSG00000121152	1112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.31)	.	CND2_HUMAN	NCAPH	HGNC	E9PHA2_HUMAN,B4E189_HUMAN	.	UPI0000163F72	SNV	NCAPH,missense_variant,p.Thr253Ala,ENST00000435975,;NCAPH,missense_variant,p.Thr253Ala,ENST00000455200,;NCAPH,missense_variant,p.Thr145Ala,ENST00000456906,;NCAPH,missense_variant,p.Thr128Ala,ENST00000427946,;NCAPH,missense_variant,p.Thr264Ala,ENST00000240423,;NCAPH,non_coding_transcript_exon_variant,,ENST00000477409,;	833	66	69	SUCCESS
CD200R1	131450	.	GRCh37	3	112648003	112648003	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	9	68	0	ENST00000471858.1:c.451+34C>T		p.*151*	ENST00000471858	NM_170780.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2969.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTGATGTG	NONE	.	.	.	.	.	ENSP00000311035	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308611	Transcript	.	.	ENSG00000163606	24235	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MO2R1_HUMAN	CD200R1	HGNC	.	.	UPI000013E2BD	SNV	CD200R1,missense_variant,p.Ser185Leu,ENST00000440122,;CD200R1,missense_variant,p.Ser162Leu,ENST00000490004,;CD200R1,intron_variant,,ENST00000295863,;CD200R1,intron_variant,,ENST00000308611,;CD200R1,intron_variant,,ENST00000471858,;	.	68	73	SUCCESS
TAMM41	132001	.	GRCh37	3	11858718	11858718	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	83	0	ENST00000444133.2:c.656T>C	p.Ile219Thr	p.I219T	ENST00000444133		219	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS2607.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTATGCTG	NONE	.	.	PIRSF_domain:PIRSF028840,Pfam_domain:PF09139,hmmpanther:PTHR13619,hmmpanther:PTHR13619:SF0	.	.	ENSP00000273037	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000273037	Transcript	.	.	ENSG00000144559	25187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	deleterious(0)	.	TAM41_HUMAN	TAMM41	HGNC	.	.	UPI0000070263	SNV	TAMM41,missense_variant,p.Ile219Thr,ENST00000444133,;TAMM41,missense_variant,p.Ile219Thr,ENST00000273037,;TAMM41,missense_variant,p.Ile219Thr,ENST00000455809,;TAMM41,missense_variant,p.Ile32Thr,ENST00000414736,;TAMM41,3_prime_UTR_variant,,ENST00000457498,;TAMM41,non_coding_transcript_exon_variant,,ENST00000460246,;	939	83	65	SUCCESS
C3orf27	0	.	GRCh37	3	128292489	128292489	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	22	119	0	ENST00000356020.2:c.84C>T	p.Arg28=	p.R28=	ENST00000356020	NM_007354.2	28	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS3050.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGGCGGGA	BUFFER|p.V26I|c.76G>A|3	.	.	.	.	.	ENSP00000348302	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356020	Transcript	.	.	ENSG00000198685	17099	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GR6_HUMAN	C3orf27	HGNC	.	.	UPI000012BA4B	SNV	C3orf27,synonymous_variant,p.%3D,ENST00000356020,;	1051	119	105	SUCCESS
GPR87	53836	.	GRCh37	3	151012420	151012420	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs35521104	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	27	111	0	ENST00000260843.4:c.614C>T	p.Thr205Met	p.T205M	ENST00000260843	NM_023915.3	205	aCg/aTg	0	A:0.0123	A:0.0197	.	A:0	.	A	T/M	protein_coding	YES	CCDS3157.1	614	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCGTATGC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF8,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	A:0	A:0	ENSP00000260843	A:0	3/3	.	.	.	.	.	.	.	.	rs35521104	3/3	common_in_exac	ENST00000260843	Transcript	.	A:0.0052	ENSG00000138271	4538	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	A:0	deleterious(0.04)	.	GPR87_HUMAN	GPR87	HGNC	.	.	UPI000003C9FF	SNV	GPR87,missense_variant,p.Thr205Met,ENST00000260843,;MED12L,intron_variant,,ENST00000474524,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000491549,;	1079	111	115	SUCCESS
SLC51A	200931	.	GRCh37	3	195953959	195953959	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759853415	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	37	0	ENST00000296327.5:c.257G>A	p.Arg86Gln	p.R86Q	ENST00000296327	NM_152672.5	86	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS3314.1	257	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGGACTC	NONE	byFrequency	.	hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF11	.	.	ENSP00000296327	.	3/9	.	.	.	.	.	.	.	.	rs759853415	3/9	PASS	ENST00000296327	Transcript	.	.	ENSG00000163959	29955	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.107)	.	tolerated(0.06)	.	OSTA_HUMAN	SLC51A	HGNC	.	.	UPI000019219E	SNV	SLC51A,missense_variant,p.Arg57Gln,ENST00000428985,;SLC51A,missense_variant,p.Arg86Gln,ENST00000296327,;PCYT1A,intron_variant,,ENST00000441879,;PCYT1A,downstream_gene_variant,,ENST00000419333,;SLC51A,upstream_gene_variant,,ENST00000415111,;SLC51A,non_coding_transcript_exon_variant,,ENST00000472653,;SLC51A,non_coding_transcript_exon_variant,,ENST00000476129,;SLC51A,downstream_gene_variant,,ENST00000442203,;SLC51A,upstream_gene_variant,,ENST00000484407,;SLC51A,upstream_gene_variant,,ENST00000475672,;SLC51A,upstream_gene_variant,,ENST00000475271,;SLC51A,upstream_gene_variant,,ENST00000471430,;	466	37	45	SUCCESS
DLEC1	9940	.	GRCh37	3	38159367	38159367	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370658013	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	17	79	0	ENST00000308059.6:c.4556G>A	p.Arg1519Gln	p.R1519Q	ENST00000308059		1519	cGg/cAg	0	A:0.0002	.	.	.	.	A	R/Q	protein_coding	YES	CCDS2672.2	4556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGGCTTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	.	A:0	ENSP00000308597	.	33/37	.	.	.	.	.	.	.	.	rs370658013,COSM3721485,COSM3721486	33/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.244)	.	tolerated(0.06)	0,1,1	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,missense_variant,p.Arg1519Gln,ENST00000308059,;DLEC1,missense_variant,p.Arg1519Gln,ENST00000346219,;DLEC1,missense_variant,p.Arg1522Gln,ENST00000452631,;ACAA1,downstream_gene_variant,,ENST00000452171,;ACAA1,downstream_gene_variant,,ENST00000333167,;ACAA1,downstream_gene_variant,,ENST00000450296,;ACAA1,downstream_gene_variant,,ENST00000301810,;ACAA1,intron_variant,,ENST00000451419,;ACAA1,downstream_gene_variant,,ENST00000480865,;DLEC1,non_coding_transcript_exon_variant,,ENST00000478428,;ACAA1,downstream_gene_variant,,ENST00000411549,;ACAA1,downstream_gene_variant,,ENST00000469559,;	4577	79	75	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	55	124	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	124	150	SUCCESS
ADH1B	125	.	GRCh37	4	100232814	100232814	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs1387786398	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	62	0	ENST00000305046.8:c.829-1G>A		p.X277_splice	ENST00000305046		277		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34033.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCTGGAA	NONE	.	.	.	.	.	ENSP00000306606	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000305046	Transcript	1	.	ENSG00000196616	250	.	.	HIGH	6/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADH1B_HUMAN	ADH1B	HGNC	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN	.	UPI00001699B5	SNV	ADH1B,splice_acceptor_variant,,ENST00000394887,;ADH1B,splice_acceptor_variant,,ENST00000305046,;ADH1B,splice_acceptor_variant,,ENST00000506651,;ADH1B,splice_acceptor_variant,,ENST00000515694,;	.	62	57	SUCCESS
ANK2	287	.	GRCh37	4	114275909	114275909	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	38	144	0	ENST00000357077.4:c.6135A>G	p.Thr2045=	p.T2045=	ENST00000357077	NM_001148.4	2045	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS3702.1	6135	RADIA|MUTECT|MUSE	.	AAAACAGAGAA	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,synonymous_variant,p.%3D,ENST00000264366,;ANK2,synonymous_variant,p.%3D,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	6188	144	143	SUCCESS
FAT4	79633	.	GRCh37	4	126241701	126241701	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	93	0	ENST00000394329.3:c.4135G>T	p.Asp1379Tyr	p.D1379Y	ENST00000394329	NM_024582.4	1379	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS3732.3	4135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGGACTTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Asp1379Tyr,ENST00000394329,;	4148	93	89	SUCCESS
FAT4	79633	.	GRCh37	4	126373179	126373179	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	41	0	ENST00000394329.3:c.11008T>C	p.Ser3670Pro	p.S3670P	ENST00000394329	NM_024582.4	3670	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS3732.3	11008	MUTECT|MUSE|VARSCANS	.	TGAATTCCCAG	NONE	.	.	hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41	.	.	ENSP00000377862	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.355)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ser3670Pro,ENST00000394329,;FAT4,missense_variant,p.Ser1968Pro,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	11021	41	47	SUCCESS
PCDH18	54510	.	GRCh37	4	138450819	138450819	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	16	68	0	ENST00000344876.4:c.2424C>G	p.Ile808Met	p.I808M	ENST00000344876	NM_019035.3	808	atC/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS34064.1	2424	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGATTGT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9	.	.	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	tolerated(0.11)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Ile19Met,ENST00000510305,;PCDH18,missense_variant,p.Ile808Met,ENST00000344876,;PCDH18,missense_variant,p.Ile588Met,ENST00000507846,;PCDH18,missense_variant,p.Ile808Met,ENST00000412923,;PCDH18,intron_variant,,ENST00000511115,;	2811	68	66	SUCCESS
DHX15	1665	.	GRCh37	4	24531241	24531241	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	9	86	0	ENST00000336812.4:c.2253A>T	p.Thr751=	p.T751=	ENST00000336812	NM_001358.2	751	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS33966.1	2253	MUTECT|MUSE	.	ATATCTGTACA	NONE	.	.	hmmpanther:PTHR18934:SF95,hmmpanther:PTHR18934,Pfam_domain:PF07717	.	.	ENSP00000336741	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000336812	Transcript	.	.	ENSG00000109606	2738	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHX15_HUMAN	DHX15	HGNC	.	.	UPI000012907A	SNV	DHX15,synonymous_variant,p.%3D,ENST00000336812,;DHX15,non_coding_transcript_exon_variant,,ENST00000513036,;DHX15,non_coding_transcript_exon_variant,,ENST00000512903,;DHX15,non_coding_transcript_exon_variant,,ENST00000504279,;DHX15,non_coding_transcript_exon_variant,,ENST00000508032,;DHX15,non_coding_transcript_exon_variant,,ENST00000510645,;DHX15,intron_variant,,ENST00000508368,;	2410	86	109	SUCCESS
UGT2A2	574537	.	GRCh37	4	70504723	70504723	+	synonymous_variant	Silent	SNP	C	C	T	rs894523773	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	21	150	0	ENST00000457664.2:c.636G>A	p.Gln212=	p.Q212=	ENST00000457664	NM_001105677.2	212	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS56331.1	636	RADIA|MUTECT|MUSE|VARSCANS	.	GTCATCTGGTC	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116	.	.	ENSP00000387888	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000457664	Transcript	.	.	ENSG00000271271	28183	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UD2A1_HUMAN	UGT2A2	HGNC	S4R436_HUMAN	.	UPI0001C3E798	SNV	UGT2A2,synonymous_variant,p.%3D,ENST00000604021,;UGT2A2,synonymous_variant,p.%3D,ENST00000457664,;UGT2A1,synonymous_variant,p.%3D,ENST00000514019,;UGT2A2,synonymous_variant,p.%3D,ENST00000604629,;UGT2A1,intron_variant,,ENST00000286604,;UGT2A1,intron_variant,,ENST00000512704,;UGT2A1,intron_variant,,ENST00000503640,;	636	150	181	SUCCESS
FRAS1	80144	.	GRCh37	4	79158773	79158773	+	splice_donor_variant	Splice_Site	SNP	T	T	C	rs994163157	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	50	0	ENST00000264895.6:c.216+2T>C		p.X72_splice	ENST00000264895	NM_025074.6	72		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54771.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTACGGT	NONE	.	.	.	.	.	ENSP00000264895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	HIGH	3/73	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,splice_donor_variant,,ENST00000325942,;FRAS1,splice_donor_variant,,ENST00000264899,;FRAS1,splice_donor_variant,,ENST00000264895,;	.	50	39	SUCCESS
DNAH5	1767	.	GRCh37	5	13759054	13759054	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	78	0	ENST00000265104.4:c.10320C>A	p.Ala3440=	p.A3440=	ENST00000265104	NM_001369.2	3440	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3882.1	10320	MUTECT|MUSE	.	TGCATGGCCAG	BUFFER|p.L3438L|c.10314C>T|3	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	61/79	.	.	.	.	.	.	.	.	.	61/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,synonymous_variant,p.%3D,ENST00000265104,;DNAH5,downstream_gene_variant,,ENST00000504001,;	10425	78	92	SUCCESS
PCDHGA4	56111	.	GRCh37	5	140737153	140737153	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs745537699	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	53	130	0	ENST00000571252.1:c.2386G>T	p.Asp796Tyr	p.D796Y	ENST00000571252	NM_018917.2	796	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS58979.1	2386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGATTTA	NONE	.	.	hmmpanther:PTHR24028:SF94,hmmpanther:PTHR24028	.	.	ENSP00000458570	.	1/4	.	.	.	.	.	.	.	.	rs745537699	1/4	PASS	ENST00000571252	Transcript	.	.	ENSG00000262576	8702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious_low_confidence(0.02)	.	PCDG4_HUMAN	PCDHGA4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000070861	SNV	PCDHGA4,missense_variant,p.Asp796Tyr,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGB2,upstream_gene_variant,,ENST00000522605,;	2386	130	154	SUCCESS
SLIT3	6586	.	GRCh37	5	168123358	168123358	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	63	0	ENST00000519560.1:c.3021C>T	p.Asn1007=	p.N1007=	ENST00000519560	NM_003062.3	1007	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4369.1	3021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTGTTTTC	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,PROSITE_patterns:PS01187,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000430333	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,synonymous_variant,p.%3D,ENST00000332966,;SLIT3,synonymous_variant,p.%3D,ENST00000519560,;SLIT3,synonymous_variant,p.%3D,ENST00000404867,;SLIT3,upstream_gene_variant,,ENST00000518092,;	3441	63	70	SUCCESS
FOXI1	2299	.	GRCh37	5	169535273	169535273	+	synonymous_variant	Silent	SNP	G	G	A	rs756749477	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	17	101	0	ENST00000306268.6:c.795G>A	p.Glu265=	p.E265=	ENST00000306268		265	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS4372.1	795	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAGAAGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042	.	.	ENSP00000304286	.	2/2	.	.	.	.	.	.	.	.	rs756749477	2/2	PASS	ENST00000306268	Transcript	1	.	ENSG00000168269	3815	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOXI1_HUMAN	FOXI1	HGNC	E0XEN6_HUMAN	.	UPI000013EB16	SNV	FOXI1,synonymous_variant,p.%3D,ENST00000306268,;FOXI1,intron_variant,,ENST00000449804,;	856	101	149	SUCCESS
LCP2	3937	.	GRCh37	5	169689689	169689689	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	48	109	0	ENST00000046794.5:c.876A>C	p.Glu292Asp	p.E292D	ENST00000046794	NM_005565.3	292	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS47339.1	876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTTTCCGT	NONE	.	.	hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1	.	.	ENSP00000046794	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.69)	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,missense_variant,p.Glu87Asp,ENST00000521416,;LCP2,missense_variant,p.Glu59Asp,ENST00000520344,;LCP2,missense_variant,p.Glu292Asp,ENST00000046794,;LCP2,upstream_gene_variant,,ENST00000523369,;	1492	109	142	SUCCESS
EGFLAM	133584	.	GRCh37	5	38409153	38409153	+	synonymous_variant	Silent	SNP	C	C	T	rs375160813	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	58	0	ENST00000354891.3:c.1296C>T	p.His432=	p.H432=	ENST00000354891	NM_001205301.1	432	caC/caT	0	T:0.0002	.	.	.	.	T	H	protein_coding	YES	CCDS56363.1	1296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACACGGGAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	T:0	ENSP00000346964	.	10/23	.	.	.	.	.	.	.	.	rs375160813	10/23	PASS	ENST00000354891	Transcript	.	.	ENSG00000164318	26810	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFLA_HUMAN	EGFLAM	HGNC	D6RJD2_HUMAN	.	UPI000022C806	SNV	EGFLAM,synonymous_variant,p.%3D,ENST00000336740,;EGFLAM,synonymous_variant,p.%3D,ENST00000354891,;EGFLAM,synonymous_variant,p.%3D,ENST00000322350,;EGFLAM,intron_variant,,ENST00000397202,;	1642	58	59	SUCCESS
POC5	134359	.	GRCh37	5	74973679	74973679	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	62	0	ENST00000428202.2:c.1504A>C	p.Ile502Leu	p.I502L	ENST00000428202	NM_001099271.1	502	Att/Ctt	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS47236.1	1504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAATTCTAT	NONE	.	.	.	.	.	ENSP00000410216	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000428202	Transcript	.	.	ENSG00000152359	26658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.527)	.	tolerated(0.07)	.	POC5_HUMAN	POC5	HGNC	D6RJ06_HUMAN,D6REA5_HUMAN,D6RBC1_HUMAN	.	UPI000020CB20	SNV	POC5,missense_variant,p.Ile474Leu,ENST00000514838,;POC5,missense_variant,p.Ile477Leu,ENST00000446329,;POC5,missense_variant,p.Ile502Leu,ENST00000428202,;POC5,intron_variant,,ENST00000510798,;POC5,intron_variant,,ENST00000380475,;POC5,non_coding_transcript_exon_variant,,ENST00000503521,;	1694	62	98	SUCCESS
GPR98	0	.	GRCh37	5	89979611	89979611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	36	97	0	ENST00000405460.2:c.5873C>T	p.Ser1958Phe	p.S1958F	ENST00000405460	NM_032119.3	1958	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS47246.1	5873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCTTTGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	28/90	.	.	.	.	.	.	.	.	.	28/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Ser1958Phe,ENST00000405460,;	5969	97	102	SUCCESS
ANKRD32	0	.	GRCh37	5	94022288	94022288	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	32	0	ENST00000265140.5:c.1986A>G	p.Ser662=	p.S662=	ENST00000265140	NM_032290.3	662	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4071.2	1986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCACAGGA	NONE	.	.	hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22	.	.	ENSP00000265140	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000265140	Transcript	.	.	ENSG00000133302	25408	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR32_HUMAN	ANKRD32	HGNC	I6L9F1_HUMAN,D6RED9_HUMAN	.	UPI000066D9F9	SNV	ANKRD32,synonymous_variant,p.%3D,ENST00000265140,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000450932,;ANKRD32,upstream_gene_variant,,ENST00000475916,;	2405	32	62	SUCCESS
PRDM1	639	.	GRCh37	6	106552731	106552731	+	synonymous_variant	Silent	SNP	C	C	T	rs373718206	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	37	0	ENST00000369096.4:c.696C>T	p.Ser232=	p.S232=	ENST00000369096	NM_001198.3	232	agC/agT	0	T:0	.	.	.	.	T	S	protein_coding	YES	CCDS5054.2	696	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCACTGA	NONE	byCluster	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,PIRSF_domain:PIRSF013212	.	T:0.0002	ENSP00000358092	.	5/7	.	.	.	.	.	.	.	.	rs373718206	5/7	PASS	ENST00000369096	Transcript	.	.	ENSG00000057657	9346	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRDM1_HUMAN	PRDM1	HGNC	Q5T4E8_HUMAN,B2REA5_HUMAN	.	UPI0000D49069	SNV	PRDM1,synonymous_variant,p.%3D,ENST00000369096,;PRDM1,synonymous_variant,p.%3D,ENST00000369091,;PRDM1,synonymous_variant,p.%3D,ENST00000450060,;PRDM1,synonymous_variant,p.%3D,ENST00000369089,;RP1-134E15.3,downstream_gene_variant,,ENST00000602426,;	930	37	57	SUCCESS
REV3L	5980	.	GRCh37	6	111732714	111732714	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs901005247	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	51	120	0	ENST00000358835.3:c.373A>G	p.Ile125Val	p.I125V	ENST00000358835		125	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5091.2	373	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGATCTTCA	NONE	.	.	Superfamily_domains:SSF53098,Pfam_domain:PF03104,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.173)	.	deleterious(0.04)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Ile47Val,ENST00000435970,;REV3L,missense_variant,p.Ile125Val,ENST00000358835,;REV3L,missense_variant,p.Ile125Val,ENST00000368802,;REV3L,missense_variant,p.Ile125Val,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,non_coding_transcript_exon_variant,,ENST00000494858,;	828	120	217	SUCCESS
KIAA1244	0	.	GRCh37	6	138619874	138619874	+	synonymous_variant	Silent	SNP	C	C	T	rs777169557	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	7	66	0	ENST00000251691.4:c.3780C>T	p.Phe1260=	p.F1260=	ENST00000251691	NM_020340.4	1260	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS5189.2	3780	MUTECT|MUSE|VARSCANS	.	CCTTTCGAGCG	NONE	.	.	Superfamily_domains:SSF48371,Pfam_domain:PF09324,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	.	.	ENSP00000251691	.	22/34	.	.	.	.	.	.	.	.	rs777169557,COSM3015903,COSM3015902	22/34	PASS	ENST00000251691	Transcript	.	.	ENSG00000112379	21213	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	BIG3_HUMAN	KIAA1244	HGNC	C5NM88_HUMAN,B5MDV5_HUMAN	.	UPI000150AF4A	SNV	KIAA1244,synonymous_variant,p.%3D,ENST00000251691,;	3946	66	85	SUCCESS
CCR6	1235	.	GRCh37	6	167550515	167550515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	14	53	0	ENST00000341935.5:c.797G>A	p.Cys266Tyr	p.C266Y	ENST00000341935	NM_031409.3	266	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS5298.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTGTCAGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF24,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000343952	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341935	Transcript	.	.	ENSG00000112486	1607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.781)	.	deleterious(0.01)	.	CCR6_HUMAN	CCR6	HGNC	.	.	UPI00000008CE	SNV	CCR6,missense_variant,p.Cys266Tyr,ENST00000341935,;CCR6,missense_variant,p.Cys266Tyr,ENST00000400926,;CCR6,missense_variant,p.Cys266Tyr,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	1349	53	73	SUCCESS
POM121L2	94026	.	GRCh37	6	27278073	27278073	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	6	79	0	ENST00000444565.1:c.1877C>A	p.Thr626Asn	p.T626N	ENST00000444565	NM_033482.3	626	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS59497.1	1877	MUTECT|MUSE	.	GGGTGGTGGAC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20	.	.	ENSP00000392726	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444565	Transcript	.	.	ENSG00000158553	13973	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	.	deleterious(0.03)	.	.	POM121L2	HGNC	C9J1I7_HUMAN	.	UPI0000198C27	SNV	POM121L2,missense_variant,p.Thr626Asn,ENST00000444565,;POM121L2,missense_variant,p.Thr562Asn,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;	1877	79	119	SUCCESS
LHFPL5	222662	.	GRCh37	6	35773531	35773531	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs370902662	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	41	90	0	ENST00000360215.1:c.84G>A	p.Met28Ile	p.M28I	ENST00000360215	NM_182548.3	28	atG/atA	0	A:0.0002	.	.	.	.	A	M/I	protein_coding	YES	CCDS4812.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGTGGGG	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12489:SF18,hmmpanther:PTHR12489,Pfam_domain:PF10242	.	A:0	ENSP00000353346	.	1/4	.	.	.	.	.	.	.	.	rs370902662	1/4	PASS	ENST00000360215	Transcript	.	.	ENSG00000197753	21253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	deleterious(0)	.	TMHS_HUMAN	LHFPL5	HGNC	.	.	UPI000006E12D	SNV	LHFPL5,missense_variant,p.Met28Ile,ENST00000360215,;LHFPL5,missense_variant,p.Met28Ile,ENST00000373853,;	461	90	129	SUCCESS
APOBEC2	10930	.	GRCh37	6	41029150	41029150	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	5	67	0	ENST00000244669.2:c.215A>G	p.Tyr72Cys	p.Y72C	ENST00000244669	NM_006789.3	72	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4848.1	215	MUTECT|MUSE	.	CTGCTATGTGG	NONE	.	.	hmmpanther:PTHR13857:SF4,hmmpanther:PTHR13857,Pfam_domain:PF08210	.	.	ENSP00000244669	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000244669	Transcript	.	.	ENSG00000124701	605	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABEC2_HUMAN	APOBEC2	HGNC	.	.	UPI000000DC55	SNV	APOBEC2,missense_variant,p.Tyr72Cys,ENST00000244669,;OARD1,downstream_gene_variant,,ENST00000479950,;OARD1,intron_variant,,ENST00000482853,;	259	67	107	SUCCESS
KHDC1L	100129128	.	GRCh37	6	73935081	73935081	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	72	0	ENST00000370388.3:c.51C>A	p.Pro17=	p.P17=	ENST00000370388	NM_001126063.2	17	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47450.1	51	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTTCGGGCAG	CODON|p.P120P|c.360G>A|3	.	.	hmmpanther:PTHR31368,hmmpanther:PTHR31368:SF2	.	.	ENSP00000359415	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370388	Transcript	.	.	ENSG00000256980	37274	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KHDCL_HUMAN	KHDC1L	HGNC	.	.	UPI0000070CED	SNV	KHDC1L,synonymous_variant,p.%3D,ENST00000370388,;KHDC1L,non_coding_transcript_exon_variant,,ENST00000471312,;RP11-257K9.8,missense_variant,p.Pro120Gln,ENST00000423730,;	95	73	77	SUCCESS
KHDC1L	100129128	.	GRCh37	6	73935082	73935082	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	75	0	ENST00000370388.3:c.50C>A	p.Pro17His	p.P17H	ENST00000370388	NM_001126063.2	17	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS47450.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCGGGCAGG	CODON|p.P120P|c.360G>A|3	.	.	hmmpanther:PTHR31368,hmmpanther:PTHR31368:SF2	.	.	ENSP00000359415	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370388	Transcript	.	.	ENSG00000256980	37274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	KHDCL_HUMAN	KHDC1L	HGNC	.	.	UPI0000070CED	SNV	KHDC1L,missense_variant,p.Pro17His,ENST00000370388,;KHDC1L,non_coding_transcript_exon_variant,,ENST00000471312,;RP11-257K9.8,missense_variant,p.Pro120Thr,ENST00000423730,;	94	75	78	SUCCESS
CLDN12	9069	.	GRCh37	7	90042587	90042591	+	frameshift_variant	Frame_Shift_Del	DEL	CAAAT	CAAAT	-	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	CAAAT	CAAAT	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	51	0	ENST00000287916.4:c.598_602del	p.Lys200PhefsTer33	p.K200Ffs*33	ENST00000287916	NM_001185073.2	199	tgCAAATct/tgct	0	.	.	.	.	.	-	CKS/CX	protein_coding	YES	CCDS5618.1	597-601	INDELOCATOR*|VARSCANI*|PINDEL	.	TACATGCAAATCTTTG	NONE	.	.	hmmpanther:PTHR16703:SF3,hmmpanther:PTHR16703	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	deletion	CLDN12,frameshift_variant,p.Lys200PhefsTer33,ENST00000287916,;CLDN12,frameshift_variant,p.Lys200PhefsTer33,ENST00000496677,;CLDN12,frameshift_variant,p.Lys200PhefsTer33,ENST00000535571,;CLDN12,frameshift_variant,p.Lys200PhefsTer33,ENST00000394605,;CLDN12,downstream_gene_variant,,ENST00000427904,;CLDN12,downstream_gene_variant,,ENST00000394604,;CLDN12,downstream_gene_variant,,ENST00000416322,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000498326,;CLDN12,downstream_gene_variant,,ENST00000462636,;	906-910	51	55	SUCCESS
SLC25A32	81034	.	GRCh37	8	104427069	104427069	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	93	104	0	ENST00000297578.4:c.97G>A	p.Gly33Ser	p.G33S	ENST00000297578	NM_030780.4	33	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS6300.1	97	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGCCGCCGC	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF62,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000297578	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000297578	Transcript	.	.	ENSG00000164933	29683	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	MFTC_HUMAN	SLC25A32	HGNC	B4DUQ5_HUMAN	.	UPI0000040C0F	SNV	SLC25A32,missense_variant,p.Gly33Ser,ENST00000297578,;DCAF13,5_prime_UTR_variant,,ENST00000297579,;SLC25A32,5_prime_UTR_variant,,ENST00000543107,;DCAF13,upstream_gene_variant,,ENST00000521971,;DCAF13,upstream_gene_variant,,ENST00000519682,;DCAF13,upstream_gene_variant,,ENST00000521716,;DCAF13,upstream_gene_variant,,ENST00000521999,;SLC25A32,missense_variant,p.Gly33Ser,ENST00000521645,;SLC25A32,missense_variant,p.Gly33Ser,ENST00000523256,;SLC25A32,missense_variant,p.Gly33Ser,ENST00000523866,;DCAF13,upstream_gene_variant,,ENST00000518554,;	264	104	160	SUCCESS
MTMR9	66036	.	GRCh37	8	11167038	11167038	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs765590777	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	42	0	ENST00000221086.3:c.812A>T	p.Tyr271Phe	p.Y271F	ENST00000221086	NM_015458.3	271	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS5979.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTATCACA	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF56,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000221086	.	6/10	.	.	.	.	.	.	.	.	rs765590777	6/10	PASS	ENST00000221086	Transcript	.	.	ENSG00000104643	14596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.7)	.	MTMR9_HUMAN	MTMR9	HGNC	Q9Y4N6_HUMAN,B7Z291_HUMAN	.	UPI0000073CA7	SNV	MTMR9,missense_variant,p.Tyr186Phe,ENST00000526292,;MTMR9,missense_variant,p.Tyr271Phe,ENST00000221086,;MTMR9,splice_region_variant,,ENST00000530200,;	1285	42	41	SUCCESS
PRKDC	5591	.	GRCh37	8	48794656	48794656	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs1300094473	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	31	0	ENST00000314191.2:c.4776G>A		p.X1592_splice	ENST00000314191	NM_006904.6	1592	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	.	4776	MUTECT|MUSE	.	GCACTCACCTG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	.	.	ENSP00000313420	.	38/87	.	.	.	.	.	.	.	.	.	38/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,synonymous_variant,p.%3D,ENST00000338368,;PRKDC,synonymous_variant,p.%3D,ENST00000314191,;PRKDC,splice_region_variant,,ENST00000518216,;PRKDC,splice_region_variant,,ENST00000523565,;	4833	31	53	SUCCESS
PREX2	80243	.	GRCh37	8	69020369	69020369	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	46	0	ENST00000288368.4:c.2741C>T	p.Ala914Val	p.A914V	ENST00000288368	NM_024870.2	914	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS6201.1	2741	MUTECT|MUSE	.	TAGGGCCTGGC	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.397)	.	tolerated(1)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ala914Val,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;	3018	46	87	SUCCESS
ZC2HC1A	51101	.	GRCh37	8	79598833	79598833	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	220	32	119	0	ENST00000263849.4:c.342T>C	p.Ser114=	p.S114=	ENST00000263849	NM_016010.2	114	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS6223.1	342	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTTATGA	NONE	.	.	hmmpanther:PTHR13555:SF25,hmmpanther:PTHR13555	.	.	ENSP00000263849	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000263849	Transcript	.	.	ENSG00000104427	24277	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZC21A_HUMAN	ZC2HC1A	HGNC	.	.	UPI000013D475	SNV	ZC2HC1A,synonymous_variant,p.%3D,ENST00000263849,;ZC2HC1A,non_coding_transcript_exon_variant,,ENST00000521176,;IL7,intron_variant,,ENST00000523959,;	444	119	252	SUCCESS
LRSAM1	90678	.	GRCh37	9	130242226	130242226	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774505948	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	11	154	0	ENST00000300417.6:c.1012C>T	p.Arg338Trp	p.R338W	ENST00000300417	NM_001005373.3	338	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6873.1	1012	MUTECT|MUSE	.	CCAGCCGGATC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23155:SF420,hmmpanther:PTHR23155	.	.	ENSP00000322937	.	13/25	.	.	.	.	.	.	.	.	rs774505948	13/25	PASS	ENST00000323301	Transcript	.	.	ENSG00000148356	25135	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	.	deleterious(0.01)	.	LRSM1_HUMAN	LRSAM1	HGNC	.	.	UPI000013DB12	SNV	LRSAM1,missense_variant,p.Arg338Trp,ENST00000300417,;LRSAM1,missense_variant,p.Arg338Trp,ENST00000323301,;LRSAM1,missense_variant,p.Arg338Trp,ENST00000373324,;LRSAM1,missense_variant,p.Arg338Trp,ENST00000373322,;LRSAM1,non_coding_transcript_exon_variant,,ENST00000498513,;LRSAM1,non_coding_transcript_exon_variant,,ENST00000483302,;LRSAM1,upstream_gene_variant,,ENST00000472068,;	1616	154	133	SUCCESS
COL5A1	1289	.	GRCh37	9	137713941	137713941	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	25	0	ENST00000371817.3:c.4555-2A>T		p.X1519_splice	ENST00000371817	NM_001278074.1	1519		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6982.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAGGGTA	NONE	.	.	.	.	.	ENSP00000360882	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	HIGH	58/65	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,splice_acceptor_variant,,ENST00000371817,;COL5A1,upstream_gene_variant,,ENST00000371820,;COL5A1,upstream_gene_variant,,ENST00000460264,;COL5A1,upstream_gene_variant,,ENST00000465877,;	.	25	27	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18888005	18888005	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	16	107	0	ENST00000380548.4:c.4429del	p.Val1477CysfsTer8	p.V1477Cfs*8	ENST00000380548	NM_001040272.5	1476	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS47954.1	4426	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGCAGGGGTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000369921	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	deletion	ADAMTSL1,frameshift_variant,p.Val178CysfsTer8,ENST00000380545,;ADAMTSL1,frameshift_variant,p.Val1477CysfsTer8,ENST00000380548,;ADAMTSL1,frameshift_variant,p.Val79CysfsTer8,ENST00000380538,;ADAMTSL1,frameshift_variant,p.Val178CysfsTer8,ENST00000388710,;ADAMTSL1,frameshift_variant,p.Val178CysfsTer8,ENST00000542621,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	4765	107	105	SUCCESS
IFNA10	3446	.	GRCh37	9	21206860	21206860	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	12	134	0	ENST00000357374.2:c.237C>T	p.Val79=	p.V79=	ENST00000357374	NM_002171.1	79	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS6499.1	237	MUTECT|MUSE|VARSCANS	.	TGGAGGACAGA	CODON|p.V79A|c.236T>C|4,BUFFER|p.L80F|c.238C>T|3	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Gene3D:1.20.1250.10,Pfam_domain:PF00143,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29	.	.	ENSP00000369566	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357374	Transcript	.	.	ENSG00000186803	5418	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFN10_HUMAN	IFNA10	HGNC	Q9UMJ2_HUMAN	.	UPI0000047765	SNV	IFNA10,synonymous_variant,p.%3D,ENST00000357374,;IFNA7,upstream_gene_variant,,ENST00000239347,;IFNWP18,downstream_gene_variant,,ENST00000437472,;	283	134	127	SUCCESS
DCAF12	25853	.	GRCh37	9	34089528	34089528	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	42	0	ENST00000361264.4:c.1085T>C	p.Leu362Pro	p.L362P	ENST00000361264	NM_015397.3	362	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6549.1	1085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCAGGGAG	NONE	.	.	hmmpanther:PTHR19860:SF10,hmmpanther:PTHR19860,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000355114	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000361264	Transcript	.	.	ENSG00000198876	19911	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.937)	.	deleterious(0)	.	DCA12_HUMAN	DCAF12	HGNC	.	.	UPI00000372E8	SNV	DCAF12,missense_variant,p.Leu362Pro,ENST00000361264,;RP11-537H15.3,intron_variant,,ENST00000448245,;DCAF12,non_coding_transcript_exon_variant,,ENST00000466402,;	1427	42	48	SUCCESS
VPS13A	23230	.	GRCh37	9	79820239	79820239	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	47	187	0	ENST00000360280.3:c.198A>G	p.Lys66=	p.K66=	ENST00000360280	NM_033305.2	66	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS6655.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAAACTTAT	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22,Pfam_domain:PF12624	.	.	ENSP00000353422	.	4/72	.	.	.	.	.	.	.	.	.	4/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,synonymous_variant,p.%3D,ENST00000357409,;VPS13A,synonymous_variant,p.%3D,ENST00000376634,;VPS13A,synonymous_variant,p.%3D,ENST00000376636,;VPS13A,synonymous_variant,p.%3D,ENST00000360280,;VPS13A,upstream_gene_variant,,ENST00000471439,;	458	187	210	SUCCESS
TLE1	7088	.	GRCh37	9	84248984	84248984	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	35	0	ENST00000376499.3:c.577+28A>T		p.*193*	ENST00000376499	NM_005077.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6661.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGTCCTAA	NONE	.	.	.	.	.	ENSP00000365682	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	MODIFIER	7/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,3_prime_UTR_variant,,ENST00000376463,;TLE1,intron_variant,,ENST00000376472,;TLE1,intron_variant,,ENST00000376499,;TLE1,intron_variant,,ENST00000418319,;	.	35	43	SUCCESS
GLUD2	2747	.	GRCh37	X	120182071	120182071	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1366485762	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	31	0	ENST00000328078.1:c.533C>G	p.Pro178Arg	p.P178R	ENST00000328078	NM_012084.3	178	cCg/cGg	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS14603.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCCGTTTG	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,PROSITE_patterns:PS00074,Gene3D:3.40.192.10,Pfam_domain:PF02812,Superfamily_domains:SSF53223,Prints_domain:PR00082	.	.	ENSP00000327589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328078	Transcript	.	.	ENSG00000182890	4336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHE4_HUMAN	GLUD2	HGNC	Q9BSD0_HUMAN	.	UPI0000129301	SNV	GLUD2,missense_variant,p.Pro178Arg,ENST00000328078,;	610	31	43	SUCCESS
PLXNA3	55558	.	GRCh37	X	153692550	153692550	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	38	0	ENST00000369682.3:c.1722C>T	p.Cys574=	p.C574=	ENST00000369682	NM_017514.3	574	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS14752.1	1722	MUTECT|MUSE	.	AGCTGCGCCTT	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32	.	.	ENSP00000358696	.	8/33	.	.	.	.	.	.	.	.	.	8/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,synonymous_variant,p.%3D,ENST00000369682,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000480645,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000493546,;PLXNA3,upstream_gene_variant,,ENST00000491066,;PLXNA3,upstream_gene_variant,,ENST00000482598,;PLXNA3,upstream_gene_variant,,ENST00000478236,;	1897	38	36	SUCCESS
MXRA5	25878	.	GRCh37	X	3239233	3239233	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	5	70	0	ENST00000217939.6:c.4493C>A	p.Thr1498Lys	p.T1498K	ENST00000217939	NM_015419.3	1498	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS14124.1	4493	MUTECT|MUSE	.	GAATTGTGGAT	NONE	.	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	.	.	ENSP00000217939	.	5/7	.	.	.	.	.	.	.	.	COSM1636510,COSM1636511	5/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.155)	.	tolerated(0.06)	1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,missense_variant,p.Thr1498Lys,ENST00000217939,;	4648	70	98	SUCCESS
SORCS3	22986	.	GRCh37	10	106976760	106976760	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	16	73	0	ENST00000369699.4:c.472T>G	p.Phe158Val	p.F158V	ENST00000369699		158	Ttc/Gtc	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS7558.1	2614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACTTCAGC	NONE	.	.	PROSITE_profiles:PS50093,hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106,Pfam_domain:PF00801,Gene3D:2.60.40.670,Superfamily_domains:SSF49299	.	.	ENSP00000358715	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.12)	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Phe872Val,ENST00000369701,;SORCS3,missense_variant,p.Phe158Val,ENST00000369699,;	2841	73	96	SUCCESS
SORCS1	114815	.	GRCh37	10	108412294	108412294	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	47	80	0	ENST00000263054.6:c.2321C>T	p.Ser774Phe	p.S774F	ENST00000263054	NM_001206570.1	774	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS31283.1	2321	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGAAACC	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106,SMART_domains:SM00602,Superfamily_domains:SSF49299	.	.	ENSP00000345964	.	18/27	.	.	.	.	.	.	.	.	COSM3985407,COSM3985406	18/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.974)	.	deleterious(0)	1,1	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Ser774Phe,ENST00000263054,;SORCS1,missense_variant,p.Ser309Phe,ENST00000369698,;SORCS1,missense_variant,p.Ser774Phe,ENST00000344440,;	2321	80	94	SUCCESS
ADAM12	8038	.	GRCh37	10	127797193	127797193	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs927992573	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	108	0	ENST00000368679.4:c.719G>A	p.Arg240Gln	p.R240Q	ENST00000368679	NM_003474.4	240	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS7653.1	719	RADIA|MUTECT|MUSE|VARSCANS	.	TTAATCGCTGC	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	.	.	ENSP00000357668	.	8/23	.	.	.	.	.	.	.	.	COSM1675650,COSM4012544,COSM1675649,COSM4012543,COSM1675648,COSM4012542	8/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	1,1,1,1,1,1	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	SNV	ADAM12,missense_variant,p.Arg240Gln,ENST00000368679,;ADAM12,missense_variant,p.Arg240Gln,ENST00000368676,;ADAM12,missense_variant,p.Arg237Gln,ENST00000448723,;ADAM12,non_coding_transcript_exon_variant,,ENST00000485388,;	1029	108	102	SUCCESS
KIAA1217	56243	.	GRCh37	10	24809143	24809143	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs560134199	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	89	0	ENST00000376454.3:c.2269C>T	p.Leu757Phe	p.L757F	ENST00000376454	NM_019590.3	757	Ctc/Ttc	0	.	T:0	.	T:0	.	T	L/F	protein_coding	YES	CCDS31165.1	2269	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCCTCCTG	NONE	by1000G	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	T:0.001	.	ENSP00000365637	T:0	11/21	.	.	.	.	.	.	.	.	rs560134199	11/21	PASS	ENST00000376454	Transcript	.	T:0.0002	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	T:0	deleterious(0.01)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Leu757Phe,ENST00000376454,;KIAA1217,missense_variant,p.Leu440Phe,ENST00000396445,;KIAA1217,missense_variant,p.Leu440Phe,ENST00000307544,;KIAA1217,missense_variant,p.Leu440Phe,ENST00000396446,;KIAA1217,missense_variant,p.Leu440Phe,ENST00000376451,;KIAA1217,missense_variant,p.Leu722Phe,ENST00000376456,;KIAA1217,missense_variant,p.Leu722Phe,ENST00000376452,;KIAA1217,missense_variant,p.Leu677Phe,ENST00000376462,;KIAA1217,missense_variant,p.Leu572Phe,ENST00000438429,;KIAA1217,missense_variant,p.Leu722Phe,ENST00000458595,;KIAA1217,intron_variant,,ENST00000430453,;	2299	89	106	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37431161	37431161	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	57	135	1	ENST00000361713.1:c.1168A>G	p.Arg390Gly	p.R390G	ENST00000361713	NM_052997.2	390	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS7193.1	1168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAAGATCT	NONE	.	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11	.	.	ENSP00000354432	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.29)	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,missense_variant,p.Arg390Gly,ENST00000374660,;ANKRD30A,missense_variant,p.Arg390Gly,ENST00000361713,;ANKRD30A,missense_variant,p.Arg390Gly,ENST00000602533,;	1267	136	160	SUCCESS
FXYD4	53828	.	GRCh37	10	43870995	43870995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	86	0	ENST00000476166.1:c.146C>A	p.Ala49Asp	p.A49D	ENST00000476166	NM_173160.2	49	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS7203.1	146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCATTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14132:SF10,hmmpanther:PTHR14132,Gene3D:1.20.5.780,Pfam_domain:PF02038	.	.	ENSP00000473361	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000476166	Transcript	.	.	ENSG00000150201	4028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	FXYD4_HUMAN	FXYD4	HGNC	.	.	UPI0000160F0C	SNV	FXYD4,missense_variant,p.Ala49Asp,ENST00000476166,;FXYD4,non_coding_transcript_exon_variant,,ENST00000480834,;FXYD4,intron_variant,,ENST00000479189,;	480	86	116	SUCCESS
LRIT1	26103	.	GRCh37	10	85994095	85994095	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs773186591	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	41	145	0	ENST00000372105.3:c.629A>G	p.Tyr210Cys	p.Y210C	ENST00000372105	NM_015613.2	210	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7373.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCATAGAGT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367	.	.	ENSP00000361177	.	3/4	.	.	.	.	.	.	.	.	rs773186591	3/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.02)	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Tyr210Cys,ENST00000372105,;	651	145	154	SUCCESS
GLUD1	2746	.	GRCh37	10	88818994	88818994	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	13	151	0	ENST00000277865.4:c.1315T>C	p.Tyr439His	p.Y439H	ENST00000277865	NM_005271.3	439	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS7382.1	1315	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTAAGATA	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.50.720,Pfam_domain:PF00208,SMART_domains:SM00839,Superfamily_domains:SSF51735,Prints_domain:PR00082	.	.	ENSP00000277865	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000277865	Transcript	1	.	ENSG00000148672	4335	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DHE3_HUMAN	GLUD1	HGNC	Q9UQV0_HUMAN,E9KL48_HUMAN,B3KV55_HUMAN	.	UPI0000001C96	SNV	GLUD1,missense_variant,p.Tyr439His,ENST00000277865,;GLUD1,missense_variant,p.Tyr272His,ENST00000537649,;GLUD1,missense_variant,p.Tyr306His,ENST00000544149,;GLUD1,non_coding_transcript_exon_variant,,ENST00000487058,;GLUD1,downstream_gene_variant,,ENST00000465164,;GLUD1,downstream_gene_variant,,ENST00000474574,;	1412	151	134	SUCCESS
ZBED5	58486	.	GRCh37	11	10874768	10874768	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	82	0	ENST00000413761.2:c.1725A>G	p.Arg575=	p.R575=	ENST00000413761		575	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	.	1725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTTCTAAC	NONE	.	.	Superfamily_domains:SSF53098,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF86	.	.	ENSP00000398106	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000432999	Transcript	.	.	ENSG00000236287	30803	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBED5_HUMAN	ZBED5	HGNC	E9PNT1_HUMAN,E9PM71_HUMAN,E9PJT5_HUMAN,E9PJ57_HUMAN	.	UPI000013CCBF	SNV	ZBED5,synonymous_variant,p.%3D,ENST00000413761,;ZBED5,synonymous_variant,p.%3D,ENST00000432999,;ZBED5,downstream_gene_variant,,ENST00000528289,;ZBED5,downstream_gene_variant,,ENST00000526852,;ZBED5,downstream_gene_variant,,ENST00000534690,;ZBED5,downstream_gene_variant,,ENST00000526020,;ZBED5,intron_variant,,ENST00000525350,;ZBED5,intron_variant,,ENST00000533925,;ZBED5,downstream_gene_variant,,ENST00000530570,;	2224	82	38	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123474218	123474218	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	92	0	ENST00000529750.1:c.706G>A	p.Val236Met	p.V236M	ENST00000529750	NM_020716.1	236	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS53720.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACGTGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	.	.	ENSP00000436500	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.565)	.	deleterious(0)	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,missense_variant,p.Val236Met,ENST00000322282,;GRAMD1B,missense_variant,p.Val243Met,ENST00000456860,;GRAMD1B,missense_variant,p.Val232Met,ENST00000534764,;GRAMD1B,missense_variant,p.Val196Met,ENST00000529432,;GRAMD1B,missense_variant,p.Val236Met,ENST00000529750,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;SF3A3P2,upstream_gene_variant,,ENST00000528675,;	1033	92	55	SUCCESS
JAM3	83700	.	GRCh37	11	134014848	134014848	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs549604639	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	187	0	ENST00000299106.4:c.571C>T	p.Arg191Cys	p.R191C	ENST00000299106		191	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS8494.2	571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCGCAAT	BUFFER|p.R236H|c.707G>A|3	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF5,hmmpanther:PTHR12231,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000299106	.	5/9	.	.	.	.	.	.	.	.	rs549604639,COSM925141	5/9	PASS	ENST00000299106	Transcript	.	.	ENSG00000166086	15532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.022)	.	tolerated(0.18)	0,1	JAM3_HUMAN	JAM3	HGNC	.	.	UPI0000034063	SNV	JAM3,missense_variant,p.Arg140Cys,ENST00000441717,;JAM3,missense_variant,p.Arg236Cys,ENST00000529443,;JAM3,missense_variant,p.Arg191Cys,ENST00000299106,;JAM3,downstream_gene_variant,,ENST00000534549,;JAM3,non_coding_transcript_exon_variant,,ENST00000524969,;JAM3,non_coding_transcript_exon_variant,,ENST00000532165,;JAM3,non_coding_transcript_exon_variant,,ENST00000531302,;JAM3,upstream_gene_variant,,ENST00000533711,;JAM3,downstream_gene_variant,,ENST00000532252,;	730	187	64	SUCCESS
BDNF	627	.	GRCh37	11	27679589	27679589	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	91	0	ENST00000356660.4:c.523G>C	p.Gly175Arg	p.G175R	ENST00000356660	NM_001709.4	175	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS44558.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCCTTTTG	NONE	.	.	PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF3,Pfam_domain:PF00243,Gene3D:2.10.90.10,SMART_domains:SM00140,Superfamily_domains:SSF57501,Prints_domain:PR01912	.	.	ENSP00000414303	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000438929	Transcript	.	.	ENSG00000176697	1033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.04)	.	BDNF_HUMAN	BDNF	HGNC	S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN	.	UPI0001594492	SNV	BDNF,missense_variant,p.Gly175Arg,ENST00000439476,;BDNF,missense_variant,p.Gly175Arg,ENST00000533131,;BDNF,missense_variant,p.Gly257Arg,ENST00000438929,;BDNF,missense_variant,p.Gly175Arg,ENST00000356660,;BDNF,missense_variant,p.Gly175Arg,ENST00000532997,;BDNF,missense_variant,p.Gly175Arg,ENST00000395981,;BDNF,missense_variant,p.Gly175Arg,ENST00000420794,;BDNF,missense_variant,p.Gly175Arg,ENST00000418212,;BDNF,missense_variant,p.Gly175Arg,ENST00000395983,;BDNF,missense_variant,p.Gly175Arg,ENST00000525528,;BDNF,missense_variant,p.Gly175Arg,ENST00000395980,;BDNF,missense_variant,p.Gly175Arg,ENST00000525950,;BDNF,missense_variant,p.Gly175Arg,ENST00000395978,;BDNF,missense_variant,p.Gly190Arg,ENST00000395986,;BDNF,missense_variant,p.Gly175Arg,ENST00000530861,;BDNF,missense_variant,p.Gly183Arg,ENST00000314915,;BDNF,missense_variant,p.Gly175Arg,ENST00000533246,;BDNF-AS,intron_variant,,ENST00000502161,;BDNF-AS,intron_variant,,ENST00000530313,;BDNF-AS,intron_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000499008,;BDNF-AS,intron_variant,,ENST00000532965,;BDNF-AS,intron_variant,,ENST00000501176,;BDNF-AS,intron_variant,,ENST00000499568,;BDNF-AS,intron_variant,,ENST00000500662,;BDNF,non_coding_transcript_exon_variant,,ENST00000584049,;BDNF,3_prime_UTR_variant,,ENST00000530786,;	910	91	59	SUCCESS
DCDC1	341019	.	GRCh37	11	30915799	30915799	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	38	97	0	ENST00000303697.4:c.962C>A	p.Thr321Lys	p.T321K	ENST00000303697		321	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	.	.	4889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGTATGT	NONE	.	.	.	.	.	ENSP00000472625	.	33/36	.	.	.	.	.	.	.	.	.	33/36	PASS	ENST00000597505	Transcript	.	.	ENSG00000170959	20625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	tolerated(0.07)	.	.	DCDC1	HGNC	M0R2J8_HUMAN	.	UPI0002A47319	SNV	DCDC1,missense_variant,p.Thr1630Lys,ENST00000597505,;DCDC1,missense_variant,p.Thr368Lys,ENST00000406071,;DCDC1,missense_variant,p.Thr321Lys,ENST00000303697,;DCDC1,missense_variant,p.Thr665Lys,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	4889	97	75	SUCCESS
OR56B1	387748	.	GRCh37	11	5758404	5758404	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	26	0	ENST00000317121.3:c.658C>T	p.Leu220=	p.L220=	ENST00000317121	NM_001005180.2	220	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS31395.1	658	MUTECT|MUSE	.	GTGATCTAAGT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR23360:SF12,hmmpanther:PTHR23360,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322939	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317121	Transcript	.	.	ENSG00000181023	15245	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O56B1_HUMAN	OR56B1	HGNC	.	.	UPI0000046199	SNV	OR56B1,synonymous_variant,p.%3D,ENST00000317121,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;TRIM22,downstream_gene_variant,,ENST00000444844,;TRIM22,downstream_gene_variant,,ENST00000429063,;	724	26	15	SUCCESS
MARK2	2011	.	GRCh37	11	63662806	63662819	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAGAGGTGAGCACT	AAGAGGTGAGCACT	-	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	AAGAGGTGAGCACT	AAGAGGTGAGCACT	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	107	0	ENST00000402010.2:c.230_234+9del		p.X77_splice	ENST00000402010	NM_001039469.2	77		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS53649.1	230-?	INDELOCATOR*|PINDEL	.	CTGGGAAAGAGGTGAGCACTGGGAC	NONE	.	.	.	.	.	ENSP00000385751	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000402010	Transcript	.	.	ENSG00000072518	3332	.	.	HIGH	2/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MARK2_HUMAN	MARK2	HGNC	Q5DNC6_HUMAN,F5H6N2_HUMAN,F5H4F6_HUMAN	.	UPI00004F6F00	deletion	MARK2,splice_donor_variant,,ENST00000513765,;MARK2,splice_donor_variant,,ENST00000509502,;MARK2,splice_donor_variant,,ENST00000543220,;MARK2,splice_donor_variant,,ENST00000508192,;MARK2,splice_donor_variant,,ENST00000377809,;MARK2,splice_donor_variant,,ENST00000315032,;MARK2,splice_donor_variant,,ENST00000502399,;MARK2,splice_donor_variant,,ENST00000425897,;MARK2,splice_donor_variant,,ENST00000361128,;MARK2,splice_donor_variant,,ENST00000350490,;MARK2,splice_donor_variant,,ENST00000540169,;MARK2,splice_donor_variant,,ENST00000408948,;MARK2,splice_donor_variant,,ENST00000402010,;MARK2,splice_donor_variant,,ENST00000377810,;MARK2,splice_donor_variant,,ENST00000413835,;MARK2,downstream_gene_variant,,ENST00000543674,;MARK2,downstream_gene_variant,,ENST00000512060,;	809-?	107	58	SUCCESS
ATG2A	23130	.	GRCh37	11	64662446	64662447	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	CA	CA	-	rs771615064	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	34	0	ENST00000377264.3:c.5815_5816del	p.Ter1939SerfsTer16	p.*1939Sfs*16	ENST00000377264	NM_015104.2	1939	TGa/a	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS31602.1	5815-5816	VARSCANI*|PINDEL	.	CAGGCTCAGTCTT	NONE	.	.	.	.	.	ENSP00000366475	.	41/41	.	.	.	.	.	.	.	.	rs771615064	41/41	PASS	ENST00000377264	Transcript	.	.	ENSG00000110046	29028	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATG2A_HUMAN	ATG2A	HGNC	B4DV45_HUMAN	.	UPI00001C1F21	deletion	ATG2A,frameshift_variant,p.Ter1743Ser,ENST00000418259,;ATG2A,frameshift_variant,p.Ter1941Ser,ENST00000421419,;ATG2A,frameshift_variant,p.Ter1939Ser,ENST00000377264,;MIR194-2,upstream_gene_variant,,ENST00000413053,;RP11-665N17.4,upstream_gene_variant,,ENST00000601517,;MIR192,upstream_gene_variant,,ENST00000384915,;MIR194-2,upstream_gene_variant,,ENST00000384864,;ATG2A,downstream_gene_variant,,ENST00000472525,;AP001187.1,upstream_gene_variant,,ENST00000366222,;	5928-5929	34	25	SUCCESS
ZFPL1	7542	.	GRCh37	11	64854466	64854466	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs138586249	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	53	0	ENST00000294258.3:c.553del	p.Arg185GlyfsTer14	p.R185Gfs*14	ENST00000294258	NM_006782.3	183	gCc/gc	0	.	A:0.0008	.	A:0	.	-	A/X	protein_coding	YES	CCDS8092.1	548	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGGCCCCCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12981,hmmpanther:PTHR12981:SF0	A:0	.	ENSP00000294258	A:0	6/8	.	.	.	.	.	.	.	.	rs138586249	6/8	PASS	ENST00000294258	Transcript	.	A:0.0002	ENSG00000162300	12868	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	ZFPL1_HUMAN	ZFPL1	HGNC	E9PQ47_HUMAN,E9PNY1_HUMAN	.	UPI000007347E	deletion	ZFPL1,frameshift_variant,p.Arg185GlyfsTer14,ENST00000294258,;ZFPL1,frameshift_variant,p.Arg185GlyfsTer?,ENST00000526334,;ZFPL1,frameshift_variant,p.Arg185GlyfsTer14,ENST00000532200,;CDCA5,upstream_gene_variant,,ENST00000275517,;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000530719,;ZFPL1,downstream_gene_variant,,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000404147,;ZFPL1,downstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524632,;VPS51,upstream_gene_variant,,ENST00000528588,;ZFPL1,downstream_gene_variant,,ENST00000526791,;ZFPL1,downstream_gene_variant,,ENST00000526945,;TMEM262,downstream_gene_variant,,ENST00000525544,;ZFPL1,3_prime_UTR_variant,,ENST00000530744,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000528123,;ZFPL1,downstream_gene_variant,,ENST00000526289,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000524733,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,downstream_gene_variant,,ENST00000533216,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000479032,;ZFPL1,downstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000527430,;CDCA5,upstream_gene_variant,,ENST00000462902,;ZFPL1,downstream_gene_variant,,ENST00000531761,;ZFPL1,downstream_gene_variant,,ENST00000453524,;	700	53	49	SUCCESS
POLA2	23649	.	GRCh37	11	65062035	65062035	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747126983	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	67	0	ENST00000265465.3:c.1372G>A	p.Glu458Lys	p.E458K	ENST00000265465	NM_002689.2	458	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS8098.1	1372	RADIA|VARSCANS	.	TGTCCGAGCCC	NONE	.	.	hmmpanther:PTHR23061:SF12,hmmpanther:PTHR23061,Pfam_domain:PF04042,PIRSF_domain:PIRSF018300	.	.	ENSP00000265465	.	15/18	.	.	.	.	.	.	.	.	rs747126983	15/18	PASS	ENST00000265465	Transcript	.	.	ENSG00000014138	30073	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.097)	.	tolerated(0.06)	.	DPOA2_HUMAN	POLA2	HGNC	E9PIQ6_HUMAN,B3KSX6_HUMAN	.	UPI000007375F	SNV	POLA2,missense_variant,p.Glu250Lys,ENST00000541089,;POLA2,missense_variant,p.Glu128Lys,ENST00000525924,;POLA2,missense_variant,p.Glu458Lys,ENST00000265465,;POLA2,non_coding_transcript_exon_variant,,ENST00000534785,;POLA2,3_prime_UTR_variant,,ENST00000527850,;POLA2,non_coding_transcript_exon_variant,,ENST00000533192,;POLA2,non_coding_transcript_exon_variant,,ENST00000527618,;	1903	67	38	SUCCESS
MRPL21	219927	.	GRCh37	11	68658837	68658837	+	synonymous_variant	Silent	SNP	G	G	T	rs745515841	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	80	0	ENST00000362034.2:c.580C>A	p.Arg194=	p.R194=	ENST00000362034	NM_181515.1	194	Cgg/Agg	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS8186.1	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCGGAGGA	NONE	.	.	hmmpanther:PTHR21349,hmmpanther:PTHR21349:SF0,TIGRFAM_domain:TIGR00061,Superfamily_domains:SSF141091	.	.	ENSP00000354580	.	7/7	.	.	.	.	.	.	.	.	rs745515841	7/7	PASS	ENST00000362034	Transcript	.	.	ENSG00000197345	14479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM21_HUMAN	MRPL21	HGNC	F5H7V8_HUMAN,F5H4R5_HUMAN	.	UPI00001A95D2	SNV	MRPL21,synonymous_variant,p.%3D,ENST00000450904,;MRPL21,synonymous_variant,p.%3D,ENST00000362034,;MRPL21,downstream_gene_variant,,ENST00000567045,;MRPL21,3_prime_UTR_variant,,ENST00000565125,;MRPL21,3_prime_UTR_variant,,ENST00000541279,;MRPL21,downstream_gene_variant,,ENST00000541265,;MRPL21,downstream_gene_variant,,ENST00000544567,;	590	80	45	SUCCESS
PCNX	0	.	GRCh37	14	71514665	71514666	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	60	0	ENST00000304743.2:c.4304dup	p.Leu1435PhefsTer19	p.L1435Ffs*19	ENST00000304743	NM_014982.2	1434	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS9806.1	4302-4303	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCTGTTGGA	NONE	.	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	22/36	.	.	.	.	.	.	.	.	.	22/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	insertion	PCNX,frameshift_variant,p.Leu494PhefsTer19,ENST00000554691,;PCNX,frameshift_variant,p.Leu1435PhefsTer19,ENST00000238570,;PCNX,frameshift_variant,p.Leu1324PhefsTer19,ENST00000439984,;PCNX,frameshift_variant,p.Leu1435PhefsTer19,ENST00000304743,;PCNX,upstream_gene_variant,,ENST00000556849,;PCNX,upstream_gene_variant,,ENST00000556516,;RP5-1163L11.3,upstream_gene_variant,,ENST00000557014,;	4748-4749	60	77	SUCCESS
UNC79	57578	.	GRCh37	14	94155051	94155051	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	100	0	ENST00000393151.2:c.7067C>A	p.Thr2356Asn	p.T2356N	ENST00000393151		2356	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS9911.2	6536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATACCTTTG	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	45/50	.	.	.	.	.	.	.	.	COSM3793978,COSM3793979	45/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	1,1	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Thr2356Asn,ENST00000393151,;UNC79,missense_variant,p.Thr2179Asn,ENST00000256339,;UNC79,missense_variant,p.Thr2378Asn,ENST00000553484,;UNC79,missense_variant,p.Thr2317Asn,ENST00000555664,;UNC79,upstream_gene_variant,,ENST00000554549,;	7191	100	29	SUCCESS
HAUS2	55142	.	GRCh37	15	42841046	42841046	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	17	0	ENST00000260372.3:c.-25C>T		p.*9*	ENST00000260372	NM_018097.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10090.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGCCTTCG	NONE	.	.	.	.	.	ENSP00000260372	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000260372	Transcript	.	.	ENSG00000137814	25530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HAUS2_HUMAN	HAUS2	HGNC	.	.	UPI000006E7A5	SNV	HAUS2,5_prime_UTR_variant,,ENST00000568846,;HAUS2,5_prime_UTR_variant,,ENST00000562398,;HAUS2,5_prime_UTR_variant,,ENST00000568876,;HAUS2,5_prime_UTR_variant,,ENST00000260372,;LRRC57,upstream_gene_variant,,ENST00000323443,;SNAP23,downstream_gene_variant,,ENST00000563830,;SNAP23,downstream_gene_variant,,ENST00000568841,;LRRC57,upstream_gene_variant,,ENST00000563454,;LRRC57,upstream_gene_variant,,ENST00000397130,;SNAP23,downstream_gene_variant,,ENST00000563873,;LRRC57,upstream_gene_variant,,ENST00000570160,;HAUS2,5_prime_UTR_variant,,ENST00000391623,;HAUS2,5_prime_UTR_variant,,ENST00000563479,;HAUS2,5_prime_UTR_variant,,ENST00000567640,;LRRC57,upstream_gene_variant,,ENST00000569830,;LRRC57,upstream_gene_variant,,ENST00000562868,;HAUS2,upstream_gene_variant,,ENST00000570178,;HAUS2,upstream_gene_variant,,ENST00000564279,;	39	17	23	SUCCESS
ACAN	176	.	GRCh37	15	89401573	89401573	+	synonymous_variant	Silent	SNP	G	G	A	rs778250246	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	58	85	0	ENST00000439576.2:c.5757G>A	p.Ser1919=	p.S1919=	ENST00000439576	NM_013227.3	1919	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS53970.1	5757	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCTCGGGAGC	NONE	byFrequency	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	.	.	ENSP00000387356	.	12/18	.	.	.	.	.	.	.	.	rs778250246	12/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,synonymous_variant,p.%3D,ENST00000559004,;ACAN,synonymous_variant,p.%3D,ENST00000439576,;ACAN,synonymous_variant,p.%3D,ENST00000561243,;ACAN,synonymous_variant,p.%3D,ENST00000352105,;ACAN,upstream_gene_variant,,ENST00000560601,;	6131	85	114	SUCCESS
MBTPS1	8720	.	GRCh37	16	84118638	84118638	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	35	191	0	ENST00000343411.3:c.1236G>A	p.Gly412=	p.G412=	ENST00000343411	NM_003791.2	412	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS10941.1	1236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCCCTGA	BUFFER|p.S411*|c.1232C>G|3	.	.	Prints_domain:PR00723,Superfamily_domains:SSF52743,Pfam_domain:PF00082,Gene3D:3.40.50.200,hmmpanther:PTHR10795:SF30,PROSITE_patterns:PS00138,hmmpanther:PTHR10795	.	.	ENSP00000344223	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000343411	Transcript	.	.	ENSG00000140943	15456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBTP1_HUMAN	MBTPS1	HGNC	H3BV53_HUMAN	.	UPI0000033348	SNV	MBTPS1,synonymous_variant,p.%3D,ENST00000343411,;MBTPS1,downstream_gene_variant,,ENST00000570012,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000565863,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000569770,;MBTPS1,intron_variant,,ENST00000563231,;MBTPS1,upstream_gene_variant,,ENST00000564643,;MBTPS1,upstream_gene_variant,,ENST00000562788,;	1732	191	140	SUCCESS
CTU2	348180	.	GRCh37	16	88781068	88781068	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	42	123	0	ENST00000453996.2:c.1275G>C	p.Glu425Asp	p.E425D	ENST00000453996	NM_001012759.1	425	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS45545.1	1275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAGACCCG	NONE	.	.	HAMAP:MF_03054,hmmpanther:PTHR20882	.	.	ENSP00000388320	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000453996	Transcript	.	.	ENSG00000174177	28005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.17)	.	CTU2_HUMAN	CTU2	HGNC	H3BNU5_HUMAN,B4DS10_HUMAN	.	UPI0000251EAE	SNV	CTU2,missense_variant,p.Glu425Asp,ENST00000312060,;CTU2,missense_variant,p.Glu338Asp,ENST00000378384,;CTU2,missense_variant,p.Glu496Asp,ENST00000567949,;CTU2,missense_variant,p.Glu425Asp,ENST00000453996,;PIEZO1,downstream_gene_variant,,ENST00000518793,;CTU2,downstream_gene_variant,,ENST00000564921,;CTU2,upstream_gene_variant,,ENST00000567316,;PIEZO1,downstream_gene_variant,,ENST00000327397,;PIEZO1,downstream_gene_variant,,ENST00000301015,;PIEZO1,downstream_gene_variant,,ENST00000466823,;MIR4722,downstream_gene_variant,,ENST00000578292,;RP5-1142A6.9,upstream_gene_variant,,ENST00000564984,;CTU2,3_prime_UTR_variant,,ENST00000564105,;CTU2,non_coding_transcript_exon_variant,,ENST00000564584,;CTU2,non_coding_transcript_exon_variant,,ENST00000566637,;PIEZO1,downstream_gene_variant,,ENST00000419505,;CTU2,upstream_gene_variant,,ENST00000562011,;PIEZO1,downstream_gene_variant,,ENST00000472168,;PIEZO1,downstream_gene_variant,,ENST00000484567,;PIEZO1,downstream_gene_variant,,ENST00000521877,;CTU2,downstream_gene_variant,,ENST00000565071,;PIEZO1,downstream_gene_variant,,ENST00000495568,;PIEZO1,downstream_gene_variant,,ENST00000497793,;	1343	123	69	SUCCESS
ELAC2	60528	.	GRCh37	17	12905669	12905669	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1567754588	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	47	74	0	ENST00000338034.4:c.1226G>A	p.Gly409Asp	p.G409D	ENST00000338034	NM_018127.6	409	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11164.1	1226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCCTCC	NONE	.	.	hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44	.	.	ENSP00000337445	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.56)	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,missense_variant,p.Gly209Asp,ENST00000584650,;ELAC2,missense_variant,p.Gly369Asp,ENST00000426905,;ELAC2,missense_variant,p.Gly409Asp,ENST00000338034,;ELAC2,missense_variant,p.Gly189Asp,ENST00000446899,;ELAC2,missense_variant,p.Gly390Asp,ENST00000395962,;ELAC2,downstream_gene_variant,,ENST00000609101,;ELAC2,downstream_gene_variant,,ENST00000580504,;ELAC2,downstream_gene_variant,,ENST00000609345,;ELAC2,3_prime_UTR_variant,,ENST00000476042,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;ELAC2,non_coding_transcript_exon_variant,,ENST00000480891,;ELAC2,non_coding_transcript_exon_variant,,ENST00000492559,;ELAC2,non_coding_transcript_exon_variant,,ENST00000578104,;ELAC2,non_coding_transcript_exon_variant,,ENST00000578991,;ELAC2,non_coding_transcript_exon_variant,,ENST00000487229,;ELAC2,upstream_gene_variant,,ENST00000491478,;ELAC2,upstream_gene_variant,,ENST00000465825,;	1466	74	86	SUCCESS
DRG2	1819	.	GRCh37	17	18003031	18003031	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	95	0	ENST00000225729.3:c.461T>C	p.Val154Ala	p.V154A	ENST00000225729	NM_001388.4	154	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11191.1	461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGTGCAGA	NONE	.	.	PROSITE_profiles:PS51710,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF26,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF01926,Superfamily_domains:SSF52540	.	.	ENSP00000225729	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000225729	Transcript	.	.	ENSG00000108591	3030	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	tolerated(0.7)	.	DRG2_HUMAN	DRG2	HGNC	.	.	UPI000012987D	SNV	DRG2,missense_variant,p.Val154Ala,ENST00000395726,;DRG2,missense_variant,p.Val154Ala,ENST00000225729,;DRG2,intron_variant,,ENST00000580929,;DRG2,intron_variant,,ENST00000583355,;DRG2,downstream_gene_variant,,ENST00000579601,;DRG2,splice_donor_variant,,ENST00000579224,;DRG2,missense_variant,p.Val154Ala,ENST00000580055,;DRG2,3_prime_UTR_variant,,ENST00000577450,;DRG2,3_prime_UTR_variant,,ENST00000467099,;DRG2,3_prime_UTR_variant,,ENST00000496428,;DRG2,3_prime_UTR_variant,,ENST00000582314,;DRG2,non_coding_transcript_exon_variant,,ENST00000582528,;DRG2,non_coding_transcript_exon_variant,,ENST00000583162,;DRG2,downstream_gene_variant,,ENST00000582419,;DRG2,upstream_gene_variant,,ENST00000497744,;DRG2,downstream_gene_variant,,ENST00000584212,;DRG2,downstream_gene_variant,,ENST00000577771,;DRG2,downstream_gene_variant,,ENST00000578173,;DRG2,downstream_gene_variant,,ENST00000578767,;	599	95	140	SUCCESS
MYCBPAP	84073	.	GRCh37	17	48586029	48586029	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	32	138	0	ENST00000323776.5:c.123C>T	p.Gly41=	p.G41=	ENST00000323776	NM_032133.4	41	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32680.2	123	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCGGCAC	NONE	.	.	.	.	.	ENSP00000323184	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000323776	Transcript	.	.	ENSG00000136449	19677	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYBPP_HUMAN	MYCBPAP	HGNC	.	.	UPI0000E5A00B	SNV	MYCBPAP,synonymous_variant,p.%3D,ENST00000419930,;MYCBPAP,synonymous_variant,p.%3D,ENST00000452039,;MYCBPAP,synonymous_variant,p.%3D,ENST00000436259,;MYCBPAP,synonymous_variant,p.%3D,ENST00000576179,;MYCBPAP,synonymous_variant,p.%3D,ENST00000323776,;RP11-94C24.6,upstream_gene_variant,,ENST00000502300,;MYCBPAP,missense_variant,p.Arg28Trp,ENST00000458692,;MYCBPAP,synonymous_variant,p.%3D,ENST00000437498,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,;	285	138	203	SUCCESS
NOG	9241	.	GRCh37	17	54671633	54671633	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	39	0	ENST00000332822.4:c.49G>A	p.Val17Ile	p.V17I	ENST00000332822	NM_005450.4	17	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS11589.1	49	MUTECT|MUSE	.	TGGTGGTCCTG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10494,hmmpanther:PTHR10494:SF5,Pfam_domain:PF05806,PIRSF_domain:PIRSF008129	.	.	ENSP00000328181	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332822	Transcript	.	.	ENSG00000183691	7866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.016)	.	tolerated(0.39)	.	NOGG_HUMAN	NOG	HGNC	.	.	UPI0000130342	SNV	NOG,missense_variant,p.Val17Ile,ENST00000332822,;	574	39	47	SUCCESS
PPM1E	22843	.	GRCh37	17	57046925	57046925	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	24	127	0	ENST00000308249.2:c.809C>T	p.Ala270Val	p.A270V	ENST00000308249	NM_014906.4	270	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11613.1	809	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCAGTGT	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF225,PROSITE_patterns:PS01032,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000312411	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000308249	Transcript	.	.	ENSG00000175175	19322	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PPM1E_HUMAN	PPM1E	HGNC	A7E2X1_HUMAN	.	UPI000013ECF6	SNV	PPM1E,missense_variant,p.Ala270Val,ENST00000308249,;RP11-579O24.3,downstream_gene_variant,,ENST00000582080,;	938	127	165	SUCCESS
RNF213	57674	.	GRCh37	17	78319225	78319225	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs757174029	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	61	1	ENST00000582970.1:c.7090G>A	p.Asp2364Asn	p.D2364N	ENST00000582970	NM_001256071.1	2364	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS58606.1	7090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCGACTTT	NONE	byFrequency	.	hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	.	.	ENSP00000464087	.	29/68	.	.	.	.	.	.	.	.	rs757174029,COSM284631,COSM284632	29/68	PASS	ENST00000582970	Transcript	.	.	ENSG00000173821	14539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.051)	.	.	0,1,1	RN213_HUMAN	RNF213	HGNC	H3BLU6_HUMAN	.	UPI0001D3BDB1	SNV	RNF213,missense_variant,p.Asp2364Asn,ENST00000582970,;RNF213,missense_variant,p.Asp437Asn,ENST00000336301,;RNF213,missense_variant,p.Asp2413Asn,ENST00000508628,;	7233	62	79	SUCCESS
ASXL3	80816	.	GRCh37	18	31319066	31319066	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	15	98	0	ENST00000269197.5:c.1698G>C	p.Glu566Asp	p.E566D	ENST00000269197	NM_030632.1	566	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS45847.1	1698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAGACCAG	NONE	.	.	hmmpanther:PTHR13578:SF18,hmmpanther:PTHR13578	.	.	ENSP00000269197	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000269197	Transcript	.	.	ENSG00000141431	29357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	ASXL3_HUMAN	ASXL3	HGNC	K7EQY1_HUMAN	.	UPI000156D0F3	SNV	ASXL3,missense_variant,p.Glu566Asp,ENST00000269197,;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	1698	98	82	SUCCESS
DOCK6	57572	.	GRCh37	19	11363512	11363512	+	synonymous_variant	Silent	SNP	C	C	A	rs370478141	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	15	95	0	ENST00000294618.7:c.255G>T	p.Leu85=	p.L85=	ENST00000294618	NM_020812.3	85	ctG/ctT	0	T:0.0003	.	.	.	.	A	L	protein_coding	YES	CCDS45975.1	255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCAGCTC	NONE	.	.	Pfam_domain:PF11878,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	.	T:0	ENSP00000294618	.	3/48	.	.	.	.	.	.	.	.	rs370478141	3/48	PASS	ENST00000294618	Transcript	1	.	ENSG00000130158	19189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK6_HUMAN	DOCK6	HGNC	.	.	UPI000059D66F	SNV	DOCK6,synonymous_variant,p.%3D,ENST00000294618,;DOCK6,non_coding_transcript_exon_variant,,ENST00000586482,;DOCK6,non_coding_transcript_exon_variant,,ENST00000585609,;DOCK6,downstream_gene_variant,,ENST00000587572,;	267	95	91	SUCCESS
JUND	3727	.	GRCh37	19	18391859	18391859	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs751981092	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	12	0	ENST00000252818.3:c.436G>A	p.Asp146Asn	p.D146N	ENST00000252818	NM_005354.4	146	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS32959.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATCCTCCA	NONE	.	.	hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF7,Pfam_domain:PF03957	.	.	ENSP00000252818	.	1/1	.	.	.	.	.	.	.	.	rs751981092	1/1	PASS	ENST00000252818	Transcript	.	.	ENSG00000130522	6206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	deleterious(0.04)	.	JUND_HUMAN	JUND	HGNC	.	.	UPI00001AE750	SNV	JUND,missense_variant,p.Asp146Asn,ENST00000252818,;JUND,upstream_gene_variant,,ENST00000600972,;MIR3188,upstream_gene_variant,,ENST00000583494,;RPL39P38,downstream_gene_variant,,ENST00000467018,;	574	12	40	SUCCESS
SUGP2	10147	.	GRCh37	19	19136612	19136612	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	433	87	131	0	ENST00000337018.6:c.545A>G	p.Glu182Gly	p.E182G	ENST00000337018	NM_014884.3	182	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS12392.1	545	RADIA|MUTECT|MUSE|VARSCANS	.	AACACTCTTTC	NONE	.	.	hmmpanther:PTHR23340:SF2,hmmpanther:PTHR23340	.	.	ENSP00000472286	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000601879	Transcript	.	.	ENSG00000064607	18641	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.548)	.	deleterious(0)	.	SUGP2_HUMAN	SUGP2	HGNC	M0R065_HUMAN	.	UPI000019825D	SNV	SUGP2,missense_variant,p.Glu182Gly,ENST00000452918,;SUGP2,missense_variant,p.Glu182Gly,ENST00000337018,;SUGP2,missense_variant,p.Glu182Gly,ENST00000601879,;SUGP2,missense_variant,p.Glu196Gly,ENST00000600377,;SUGP2,intron_variant,,ENST00000456085,;SUGP2,downstream_gene_variant,,ENST00000594445,;SUGP2,non_coding_transcript_exon_variant,,ENST00000598202,;SUGP2,missense_variant,p.Glu182Gly,ENST00000330854,;SUGP2,missense_variant,p.Glu182Gly,ENST00000594773,;SUGP2,missense_variant,p.Glu182Gly,ENST00000600239,;SUGP2,intron_variant,,ENST00000598240,;	843	131	520	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36278734	36278734	+	synonymous_variant	Silent	SNP	C	C	T	rs776419803	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	548	27	218	0	ENST00000314737.5:c.2784C>T	p.Ile928=	p.I928=	ENST00000314737	NM_052948.3	928	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12477.1	2784	MUTECT|MUSE	.	GAGATCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	.	.	ENSP00000320038	.	21/21	.	.	.	.	.	.	.	.	rs776419803	21/21	PASS	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,synonymous_variant,p.%3D,ENST00000007510,;ARHGAP33,synonymous_variant,p.%3D,ENST00000378944,;ARHGAP33,synonymous_variant,p.%3D,ENST00000587447,;ARHGAP33,synonymous_variant,p.%3D,ENST00000314737,;ARHGAP33,intron_variant,,ENST00000588248,;AC002398.5,downstream_gene_variant,,ENST00000564335,;AC002398.5,downstream_gene_variant,,ENST00000433059,;AC002398.5,downstream_gene_variant,,ENST00000567313,;ARHGAP33,downstream_gene_variant,,ENST00000591438,;ARHGAP33,downstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000601474,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;	2868	218	575	SUCCESS
FCGBP	8857	.	GRCh37	19	40402152	40402152	+	synonymous_variant	Silent	SNP	G	G	A	rs1599912689	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	36	1	ENST00000221347.6:c.5247C>T	p.Asp1749=	p.D1749=	ENST00000221347	NM_003890.2	1749	gaC/gaT	0	.	A:0.0393	.	A:0.1657	.	A	D	protein_coding	YES	CCDS12546.1	5247	SOMATICSNIPER|VARSCANS	.	ATCTCGTCCTT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	A:0.0536	.	ENSP00000221347	A:0.1471	11/36	.	.	.	.	.	.	.	.	rs587742284	11/36	common_in_exac	ENST00000221347	Transcript	.	A:0.0988	ENSG00000090920	13572	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.1288	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,synonymous_variant,p.%3D,ENST00000221347,;FCGBP,intron_variant,,ENST00000601713,;	5255	37	51	SUCCESS
AKT2	208	.	GRCh37	19	40746009	40746009	+	synonymous_variant	Silent	SNP	G	G	T	rs771299029	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	116	84	0	ENST00000392038.2:c.582C>A	p.Val194=	p.V194=	ENST00000392038	NM_001626.4	194	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12552.1	582	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGACTTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF28,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000375892	.	7/14	.	.	.	.	.	.	.	.	rs771299029,COSM3534017	7/14	PASS	ENST00000392038	Transcript	1	.	ENSG00000105221	392	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	AKT2_HUMAN	AKT2	HGNC	Q05BV0_HUMAN,M0QZK3_HUMAN,J3QQM6_HUMAN,J3QLS6_HUMAN,J3QL45_HUMAN,J3KSY8_HUMAN,J3KRI8_HUMAN,E7EVP8_HUMAN,C9JIJ1_HUMAN,C9JIF6_HUMAN,C9JHS6_HUMAN,C9JC83_HUMAN,C9J258_HUMAN,B4DG79_HUMAN,B3KP61_HUMAN,A8MX96_HUMAN	.	UPI0000049EDB	SNV	AKT2,synonymous_variant,p.%3D,ENST00000579047,;AKT2,synonymous_variant,p.%3D,ENST00000392038,;AKT2,synonymous_variant,p.%3D,ENST00000311278,;AKT2,synonymous_variant,p.%3D,ENST00000424901,;AKT2,intron_variant,,ENST00000578615,;AKT2,intron_variant,,ENST00000578310,;AKT2,downstream_gene_variant,,ENST00000358335,;AKT2,upstream_gene_variant,,ENST00000476247,;AKT2,downstream_gene_variant,,ENST00000580747,;AKT2,downstream_gene_variant,,ENST00000392037,;AKT2,downstream_gene_variant,,ENST00000583859,;AKT2,downstream_gene_variant,,ENST00000578123,;AKT2,downstream_gene_variant,,ENST00000486368,;AKT2,downstream_gene_variant,,ENST00000441941,;AKT2,downstream_gene_variant,,ENST00000423127,;AKT2,upstream_gene_variant,,ENST00000497948,;AKT2,downstream_gene_variant,,ENST00000596634,;AKT2,downstream_gene_variant,,ENST00000452077,;AKT2,downstream_gene_variant,,ENST00000456441,;AKT2,downstream_gene_variant,,ENST00000416362,;AKT2,non_coding_transcript_exon_variant,,ENST00000480878,;AKT2,non_coding_transcript_exon_variant,,ENST00000391845,;AKT2,upstream_gene_variant,,ENST00000486647,;AKT2,stop_gained,p.Ser109Ter,ENST00000601166,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,3_prime_UTR_variant,,ENST00000491778,;AKT2,3_prime_UTR_variant,,ENST00000492463,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000537834,;AKT2,upstream_gene_variant,,ENST00000579345,;AKT2,upstream_gene_variant,,ENST00000580878,;AKT2,upstream_gene_variant,,ENST00000489375,;AKT2,upstream_gene_variant,,ENST00000578282,;AKT2,upstream_gene_variant,,ENST00000483166,;AKT2,downstream_gene_variant,,ENST00000578975,;AKT2,upstream_gene_variant,,ENST00000496089,;AKT2,downstream_gene_variant,,ENST00000487537,;	881	84	150	SUCCESS
MIA	8190	.	GRCh37	19	41281480	41281480	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	71	57	0	ENST00000263369.3:c.33C>T	p.Ile11=	p.I11=	ENST00000263369	NM_006533.3	11	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12566.1	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATCATCTT	NONE	.	.	hmmpanther:PTHR23158,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000263369	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000263369	Transcript	.	.	ENSG00000261857	7076	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIA_HUMAN	MIA	HGNC	M0R343_HUMAN	.	UPI0000032AB5	SNV	MIA,synonymous_variant,p.%3D,ENST00000597600,;MIA,synonymous_variant,p.%3D,ENST00000597784,;MIA,synonymous_variant,p.%3D,ENST00000263369,;MIA,synonymous_variant,p.%3D,ENST00000597140,;MIA,synonymous_variant,p.%3D,ENST00000594436,;RAB4B,upstream_gene_variant,,ENST00000357052,;RAB4B,upstream_gene_variant,,ENST00000595728,;RAB4B,upstream_gene_variant,,ENST00000594800,;RAB4B,upstream_gene_variant,,ENST00000602173,;RAB4B-EGLN2,upstream_gene_variant,,ENST00000601949,;RAB4B,upstream_gene_variant,,ENST00000602069,;MIA-RAB4B,synonymous_variant,p.%3D,ENST00000600729,;MIA,synonymous_variant,p.%3D,ENST00000601159,;RAB4B-EGLN2,upstream_gene_variant,,ENST00000596216,;RAB4B,upstream_gene_variant,,ENST00000600078,;RAB4B-EGLN2,upstream_gene_variant,,ENST00000594136,;MIA,upstream_gene_variant,,ENST00000593317,;RAB4B,upstream_gene_variant,,ENST00000378307,;RAB4B,upstream_gene_variant,,ENST00000597476,;	199	57	116	SUCCESS
RAB4B	53916	.	GRCh37	19	41286374	41286374	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs766157650	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	257	234	116	0	ENST00000357052.2:c.184del	p.Trp62GlyfsTer12	p.W62Gfs*12	ENST00000357052	NM_016154.4	61	aTt/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS33030.1	182	VARSCANI*|PINDEL	.	TACAGATTTGGG	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF387,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000470246	.	3/8	.	.	.	.	.	.	.	.	rs766157650	3/8	PASS	ENST00000594800	Transcript	.	.	ENSG00000167578	9782	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB4B_HUMAN	RAB4B	HGNC	.	.	UPI000000125C	deletion	RAB4B,frameshift_variant,p.Trp62GlyfsTer12,ENST00000357052,;RAB4B,frameshift_variant,p.Trp30GlyfsTer12,ENST00000595728,;RAB4B,frameshift_variant,p.Trp62GlyfsTer12,ENST00000594800,;RAB4B,frameshift_variant,p.Trp62GlyfsTer21,ENST00000602173,;MIA,downstream_gene_variant,,ENST00000597600,;MIA,downstream_gene_variant,,ENST00000597784,;MIA,downstream_gene_variant,,ENST00000263369,;MIA,downstream_gene_variant,,ENST00000597140,;MIA,downstream_gene_variant,,ENST00000594436,;RAB4B,non_coding_transcript_exon_variant,,ENST00000602069,;RAB4B-EGLN2,intron_variant,,ENST00000601949,;RAB4B-EGLN2,frameshift_variant,p.Trp62GlyfsTer12,ENST00000594136,;RAB4B,frameshift_variant,p.Trp62GlyfsTer12,ENST00000378307,;MIA-RAB4B,3_prime_UTR_variant,,ENST00000600729,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000596216,;RAB4B,non_coding_transcript_exon_variant,,ENST00000600078,;RAB4B,non_coding_transcript_exon_variant,,ENST00000597476,;MIA,downstream_gene_variant,,ENST00000601159,;MIA,downstream_gene_variant,,ENST00000593317,;	342	116	491	SUCCESS
PVR	5817	.	GRCh37	19	45150523	45150523	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	11	60	0	ENST00000425690.3:c.108G>C	p.Gln36His	p.Q36H	ENST00000425690	NM_006505.3	36	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS12640.1	108	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCAGGTGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF54,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000402060	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000425690	Transcript	.	.	ENSG00000073008	9705	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	PVR_HUMAN	PVR	HGNC	.	.	UPI000004A2C1	SNV	PVR,missense_variant,p.Gln36His,ENST00000406449,;PVR,missense_variant,p.Gln36His,ENST00000425690,;PVR,missense_variant,p.Gln36His,ENST00000344956,;PVR,missense_variant,p.Gln36His,ENST00000403059,;PVR,upstream_gene_variant,,ENST00000587785,;CTB-171A8.1,intron_variant,,ENST00000590796,;PVR,intron_variant,,ENST00000187830,;	407	60	70	SUCCESS
MYBPC2	4606	.	GRCh37	19	50957538	50957538	+	synonymous_variant	Silent	SNP	G	G	A	rs558923030	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	28	95	0	ENST00000357701.5:c.1926G>A	p.Pro642=	p.P642=	ENST00000357701	NM_004533.3	642	ccG/ccA	0	.	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS46152.1	1926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGGAGGC	BUFFER|p.R646H|c.1937G>A|6	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19900:SF56,hmmpanther:PTHR19900,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726	A:0	.	ENSP00000350332	A:0	18/28	.	.	.	.	.	.	.	.	rs558923030,COSM3371440	18/28	common_in_exac	ENST00000357701	Transcript	.	A:0.0014	ENSG00000086967	7550	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0.0072	.	0,1	MYPC2_HUMAN	MYBPC2	HGNC	.	.	UPI000013C628	SNV	MYBPC2,synonymous_variant,p.%3D,ENST00000357701,;	1977	95	41	SUCCESS
C1orf51	0	.	GRCh37	1	150255801	150255801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	20	137	0	ENST00000290363.5:c.124C>A	p.His42Asn	p.H42N	ENST00000290363	NM_144697.2	42	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS949.1	124	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCATGGG	NONE	.	.	.	.	.	ENSP00000290363	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000290363	Transcript	.	.	ENSG00000159208	25200	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.117)	.	tolerated_low_confidence(0.26)	.	CA051_HUMAN	C1orf51	HGNC	Q5TB14_HUMAN,Q5TB13_HUMAN,Q5TB12_HUMAN	.	UPI000000DBBF	SNV	C1orf51,missense_variant,p.His42Asn,ENST00000369095,;C1orf51,missense_variant,p.His42Asn,ENST00000290363,;C1orf51,intron_variant,,ENST00000369094,;C1orf51,intron_variant,,ENST00000417398,;C1orf51,intron_variant,,ENST00000447007,;C1orf54,downstream_gene_variant,,ENST00000369099,;C1orf54,downstream_gene_variant,,ENST00000369098,;C1orf54,downstream_gene_variant,,ENST00000369102,;C1orf51,non_coding_transcript_exon_variant,,ENST00000469255,;C1orf51,upstream_gene_variant,,ENST00000497211,;	573	137	171	SUCCESS
IVL	3713	.	GRCh37	1	152884007	152884007	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	293	74	189	2	ENST00000368764.3:c.1734G>T	p.Val578=	p.V578=	ENST00000368764		578	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS1030.1	1734	RADIA|VARSCANS	.	GAGGTGCAGTG	NONE	.	.	.	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,synonymous_variant,p.%3D,ENST00000368764,;IVL,synonymous_variant,p.%3D,ENST00000392667,;	1798	191	367	SUCCESS
MIB2	142678	.	GRCh37	1	1558787	1558787	+	synonymous_variant	Silent	SNP	C	C	T	rs751542509	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	50	0	ENST00000505820.2:c.300C>T	p.Pro100=	p.P100=	ENST00000505820		100	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS41224.2	300	RADIA|VARSCANS	.	CGGCCCACCAT	NONE	.	.	.	.	.	ENSP00000426103	.	3/20	.	.	.	.	.	.	.	.	rs751542509	3/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,synonymous_variant,p.%3D,ENST00000518681,;MIB2,synonymous_variant,p.%3D,ENST00000520777,;MIB2,synonymous_variant,p.%3D,ENST00000505820,;MIB2,synonymous_variant,p.%3D,ENST00000357210,;MIB2,synonymous_variant,p.%3D,ENST00000378710,;MIB2,synonymous_variant,p.%3D,ENST00000360522,;MIB2,5_prime_UTR_variant,,ENST00000504599,;MIB2,intron_variant,,ENST00000503789,;MIB2,intron_variant,,ENST00000378712,;MIB2,intron_variant,,ENST00000355826,;MIB2,intron_variant,,ENST00000510793,;MIB2,intron_variant,,ENST00000378708,;MIB2,upstream_gene_variant,,ENST00000514234,;MIB2,non_coding_transcript_exon_variant,,ENST00000512004,;MIB2,synonymous_variant,p.%3D,ENST00000489635,;MIB2,5_prime_UTR_variant,,ENST00000487053,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,intron_variant,,ENST00000506488,;MIB2,intron_variant,,ENST00000514363,;MIB2,intron_variant,,ENST00000479659,;MIB2,intron_variant,,ENST00000502470,;MIB2,upstream_gene_variant,,ENST00000467597,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,upstream_gene_variant,,ENST00000505370,;MIB2,upstream_gene_variant,,ENST00000508148,;MIB2,upstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000477990,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,upstream_gene_variant,,ENST00000508455,;	317	50	27	SUCCESS
SPTA1	6708	.	GRCh37	1	158637739	158637739	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	66	73	0	ENST00000368147.4:c.1947G>A	p.Glu649=	p.E649=	ENST00000368147	NM_003126.2	649	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS41423.1	1947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCTCAAT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	15/52	.	.	.	.	.	.	.	.	.	15/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,synonymous_variant,p.%3D,ENST00000368147,;	2128	73	98	SUCCESS
COPA	1314	.	GRCh37	1	160264344	160264344	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	123	191	0	ENST00000241704.7:c.2606C>T	p.Ala869Val	p.A869V	ENST00000241704	NM_004371.3	869	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41424.1	2633	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGAGCATCA	NONE	.	.	hmmpanther:PTHR19876,Pfam_domain:PF06957,PIRSF_domain:PIRSF003354	.	.	ENSP00000357048	.	25/33	.	.	.	.	.	.	.	.	.	25/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.59)	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,missense_variant,p.Ala878Val,ENST00000368069,;COPA,missense_variant,p.Ala869Val,ENST00000241704,;COPA,downstream_gene_variant,,ENST00000545284,;	2711	191	217	SUCCESS
CDC73	79577	.	GRCh37	1	193094335	193094335	+	synonymous_variant	Silent	SNP	C	C	A	rs1327944866	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	7	144	0	ENST00000367435.3:c.225C>A	p.Val75=	p.V75=	ENST00000367435	NM_024529.4	75	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1382.1	225	MUTECT|MUSE	.	TATGTCCGACG	NONE	.	.	hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8	.	.	ENSP00000356405	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000367435	Transcript	.	.	ENSG00000134371	16783	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDC73_HUMAN	CDC73	HGNC	.	.	UPI0000021592	SNV	CDC73,synonymous_variant,p.%3D,ENST00000367435,;CDC73,non_coding_transcript_exon_variant,,ENST00000482484,;	409	144	109	SUCCESS
CR2	1380	.	GRCh37	1	207651318	207651318	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	38	181	0	ENST00000367058.3:c.2814T>A	p.Thr938=	p.T938=	ENST00000367058	NM_001877.4	938	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31007.1	2991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACTCTGGA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,synonymous_variant,p.%3D,ENST00000458541,;CR2,synonymous_variant,p.%3D,ENST00000367057,;CR2,synonymous_variant,p.%3D,ENST00000367058,;CR2,synonymous_variant,p.%3D,ENST00000367059,;	3180	181	154	SUCCESS
ADCK3	0	.	GRCh37	1	227171267	227171267	+	synonymous_variant	Silent	SNP	C	C	A	rs776677906	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	53	82	1	ENST00000366777.3:c.1095C>A	p.Ala365=	p.A365=	ENST00000366777	NM_020247.4	365	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1557.1	1095	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCAGAG	BUFFER|p.V85M|c.253G>A|3,BUFFER|p.V364M|c.1090G>A|3	.	.	hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF21,Pfam_domain:PF03109	.	.	ENSP00000355741	.	14/20	.	.	.	.	.	.	.	.	rs776677906	14/20	PASS	ENST00000366779	Transcript	.	.	ENSG00000163050	16812	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCK3_HUMAN	ADCK3	HGNC	Q5T7A2_HUMAN,A1L377_HUMAN	.	UPI0000126D6B	SNV	ADCK3,synonymous_variant,p.%3D,ENST00000433743,;ADCK3,synonymous_variant,p.%3D,ENST00000366779,;ADCK3,synonymous_variant,p.%3D,ENST00000458507,;ADCK3,synonymous_variant,p.%3D,ENST00000366778,;ADCK3,synonymous_variant,p.%3D,ENST00000366777,;ADCK3,non_coding_transcript_exon_variant,,ENST00000464693,;ADCK3,non_coding_transcript_exon_variant,,ENST00000479852,;ADCK3,non_coding_transcript_exon_variant,,ENST00000478406,;ADCK3,non_coding_transcript_exon_variant,,ENST00000485462,;	3866	83	88	SUCCESS
RYR2	6262	.	GRCh37	1	237540701	237540702	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CA	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	72	0	ENST00000366574.2:c.543_544dup	p.Ile182ThrfsTer3	p.I182Tfs*3	ENST00000366574	NM_001035.2	181	ctc/ctCAc	0	.	.	.	.	.	CA	L/LX	protein_coding	YES	CCDS55691.1	542-543	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACCTCATCT	NONE	.	.	Prints_domain:PR00795,Superfamily_domains:SSF82109,SMART_domains:SM00472,Pfam_domain:PF08709,Gene3D:2.80.10.50,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50919	.	.	ENSP00000355533	.	8/105	.	.	.	.	.	.	.	.	.	8/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	insertion	RYR2,frameshift_variant,p.Ile166ThrfsTer3,ENST00000542537,;RYR2,frameshift_variant,p.Ile182ThrfsTer3,ENST00000366574,;RYR2,frameshift_variant,p.Ile180ThrfsTer3,ENST00000360064,;	859-860	72	96	SUCCESS
COL16A1	1307	.	GRCh37	1	32133203	32133203	+	synonymous_variant	Silent	SNP	G	G	A	rs200246591	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	95	0	ENST00000373672.3:c.3330C>T	p.Thr1110=	p.T1110=	ENST00000373672	NM_001856.3	1110	acC/acT	0	.	T:0	.	T:0.0014	.	A	T	protein_coding	YES	CCDS41297.1	3330	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGGTGTA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	T:0	.	ENSP00000362776	T:0	52/71	.	.	.	.	.	.	.	.	rs200246591	52/71	PASS	ENST00000373672	Transcript	.	T:0.0002	ENSG00000084636	2193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,synonymous_variant,p.%3D,ENST00000373672,;COL16A1,synonymous_variant,p.%3D,ENST00000271069,;COL16A1,downstream_gene_variant,,ENST00000458715,;COL16A1,upstream_gene_variant,,ENST00000440437,;COL16A1,non_coding_transcript_exon_variant,,ENST00000468459,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000479100,;COL16A1,upstream_gene_variant,,ENST00000482910,;COL16A1,upstream_gene_variant,,ENST00000470799,;COL16A1,upstream_gene_variant,,ENST00000488897,;	3847	95	57	SUCCESS
HIVEP3	59269	.	GRCh37	1	42041241	42041241	+	synonymous_variant	Silent	SNP	C	C	T	rs753210157	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	58	0	ENST00000247584.5:c.5181G>A	p.Pro1727=	p.P1727=	ENST00000247584		1727	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS463.1	5181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCGGCTC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,synonymous_variant,p.%3D,ENST00000429157,;HIVEP3,synonymous_variant,p.%3D,ENST00000372584,;HIVEP3,synonymous_variant,p.%3D,ENST00000247584,;HIVEP3,synonymous_variant,p.%3D,ENST00000372583,;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	6067	58	24	SUCCESS
DMRTA2	63950	.	GRCh37	1	50886867	50886867	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	29	0	ENST00000404795.3:c.342G>C	p.Ala114=	p.A114=	ENST00000404795	NM_032110.2	114	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS44141.1	342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGCGCCAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50809,hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF15,SMART_domains:SM00301	.	.	ENSP00000383909	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000404795	Transcript	.	.	ENSG00000142700	13908	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMTA2_HUMAN	DMRTA2	HGNC	.	.	UPI00003D7962	SNV	DMRTA2,synonymous_variant,p.%3D,ENST00000418121,;DMRTA2,synonymous_variant,p.%3D,ENST00000404795,;	735	29	27	SUCCESS
DOCK7	85440	.	GRCh37	1	63001217	63001217	+	synonymous_variant	Silent	SNP	C	C	T	rs761731303	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	51	116	0	ENST00000340370.5:c.3465G>A	p.Leu1155=	p.L1155=	ENST00000340370	NM_033407.3	1155	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30734.1	3465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCAAATA	NONE	byFrequency	.	hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	.	.	ENSP00000340742	.	28/49	.	.	.	.	.	.	.	.	rs761731303	28/49	PASS	ENST00000340370	Transcript	.	.	ENSG00000116641	19190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK7_HUMAN	DOCK7	HGNC	.	.	UPI000044FEA9	SNV	DOCK7,synonymous_variant,p.%3D,ENST00000251157,;DOCK7,synonymous_variant,p.%3D,ENST00000340370,;DOCK7,synonymous_variant,p.%3D,ENST00000454575,;RP11-293K19.1,downstream_gene_variant,,ENST00000604867,;	3483	116	112	SUCCESS
ST6GALNAC3	256435	.	GRCh37	1	77093235	77093235	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	29	0	ENST00000328299.3:c.723del	p.Tyr242ThrfsTer54	p.Y242Tfs*54	ENST00000328299	NM_152996.2	241	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS672.1	722	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGACACCTACT	NONE	.	.	hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF49,Pfam_domain:PF00777	.	.	ENSP00000329214	.	4/5	.	.	.	.	.	.	.	.	COSM536355	4/5	PASS	ENST00000328299	Transcript	.	.	ENSG00000184005	19343	1	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	SIA7C_HUMAN	ST6GALNAC3	HGNC	.	.	UPI000006F75A	deletion	ST6GALNAC3,frameshift_variant,p.Tyr242ThrfsTer54,ENST00000328299,;	870	29	39	SUCCESS
PSMF1	9491	.	GRCh37	20	1145687	1145687	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs781367296	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	61	69	0	ENST00000333082.3:c.779A>C	p.His260Pro	p.H260P	ENST00000333082	NM_178578.2	260	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS13010.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCATCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13266	.	.	ENSP00000338039	.	7/7	.	.	.	.	.	.	.	.	rs781367296	7/7	PASS	ENST00000335877	Transcript	.	.	ENSG00000125818	9571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PSMF1_HUMAN	PSMF1	HGNC	Q5QPM9_HUMAN	.	UPI000013CBCB	SNV	PSMF1,missense_variant,p.His102Pro,ENST00000435720,;PSMF1,missense_variant,p.His260Pro,ENST00000333082,;PSMF1,missense_variant,p.His260Pro,ENST00000335877,;PSMF1,intron_variant,,ENST00000246015,;PSMF1,intron_variant,,ENST00000381898,;PSMF1,intron_variant,,ENST00000438768,;PSMF1,non_coding_transcript_exon_variant,,ENST00000484891,;PSMF1,upstream_gene_variant,,ENST00000418246,;PSMF1,downstream_gene_variant,,ENST00000479715,;ACTG1P3,downstream_gene_variant,,ENST00000431775,;	955	69	100	SUCCESS
DZANK1	55184	.	GRCh37	20	18393405	18393405	+	synonymous_variant	Silent	SNP	G	G	A	rs747295212	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	39	92	0	ENST00000262547.5:c.1317C>T	p.Phe439=	p.F439=	ENST00000262547	NM_001099407.1	439	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS46582.1	1317	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTAGAAGAG	NONE	.	.	hmmpanther:PTHR16058:SF4,hmmpanther:PTHR16058	.	.	ENSP00000262547	.	13/21	.	.	.	.	.	.	.	.	rs747295212	13/21	PASS	ENST00000262547	Transcript	.	.	ENSG00000089091	15858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZAN1_HUMAN	DZANK1	HGNC	.	.	UPI0000E064B4	SNV	DZANK1,synonymous_variant,p.%3D,ENST00000358866,;DZANK1,synonymous_variant,p.%3D,ENST00000357236,;DZANK1,synonymous_variant,p.%3D,ENST00000329494,;DZANK1,synonymous_variant,p.%3D,ENST00000262547,;DZANK1,non_coding_transcript_exon_variant,,ENST00000470526,;DZANK1,non_coding_transcript_exon_variant,,ENST00000480488,;DZANK1,non_coding_transcript_exon_variant,,ENST00000487128,;DZANK1,non_coding_transcript_exon_variant,,ENST00000460891,;DZANK1,synonymous_variant,p.%3D,ENST00000609267,;DZANK1,3_prime_UTR_variant,,ENST00000377630,;DZANK1,3_prime_UTR_variant,,ENST00000608192,;	1526	92	151	SUCCESS
NINL	22981	.	GRCh37	20	25434223	25434223	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776663077	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	23	120	0	ENST00000278886.6:c.4013C>G	p.Ala1338Gly	p.A1338G	ENST00000278886	NM_025176.4	1338	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS33452.1	4013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGCGTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12	.	.	ENSP00000278886	.	24/24	.	.	.	.	.	.	.	.	rs776663077	24/24	PASS	ENST00000278886	Transcript	.	.	ENSG00000101004	29163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious(0.04)	.	NINL_HUMAN	NINL	HGNC	.	.	UPI0000206B64	SNV	NINL,missense_variant,p.Ala989Gly,ENST00000422516,;NINL,missense_variant,p.Ala1338Gly,ENST00000278886,;NINL,non_coding_transcript_exon_variant,,ENST00000464285,;NINL,downstream_gene_variant,,ENST00000496509,;GINS1,downstream_gene_variant,,ENST00000481735,;	4087	120	109	SUCCESS
XKR7	343702	.	GRCh37	20	30584708	30584708	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	16	61	0	ENST00000562532.2:c.1188C>T	p.Ala396=	p.A396=	ENST00000562532	NM_001011718.1	396	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33459.1	1188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGCCGCGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815	.	.	ENSP00000477059	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000562532	Transcript	.	.	ENSG00000260903	23062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XKR7_HUMAN	XKR7	HGNC	.	.	UPI00004C7A9E	SNV	XKR7,synonymous_variant,p.%3D,ENST00000562532,;	1362	61	69	SUCCESS
ZNF334	55713	.	GRCh37	20	45130323	45130323	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	58	0	ENST00000347606.4:c.1655C>G	p.Thr552Ser	p.T552S	ENST00000347606	NM_018102.4	552	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS33480.1	1655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGGTTCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000255129	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000347606	Transcript	.	.	ENSG00000198185	15806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.16)	.	ZN334_HUMAN	ZNF334	HGNC	M0R3E1_HUMAN	.	UPI000004A0FE	SNV	ZNF334,missense_variant,p.Thr575Ser,ENST00000593880,;ZNF334,missense_variant,p.Thr552Ser,ENST00000347606,;ZNF334,missense_variant,p.Thr514Ser,ENST00000457685,;ZNF334,downstream_gene_variant,,ENST00000596323,;	1838	58	75	SUCCESS
NCOA3	8202	.	GRCh37	20	46268408	46268408	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	41	95	0	ENST00000371998.3:c.2795C>G	p.Pro932Arg	p.P932R	ENST00000371998		932	cCt/cGt	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS13407.1	2795	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCTATGA	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.08)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Pro927Arg,ENST00000371997,;NCOA3,missense_variant,p.Pro932Arg,ENST00000372004,;NCOA3,missense_variant,p.Pro862Arg,ENST00000341724,;NCOA3,missense_variant,p.Pro932Arg,ENST00000371998,;	2986	95	150	SUCCESS
CASS4	57091	.	GRCh37	20	55012412	55012412	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs761295290	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	53	131	1	ENST00000360314.3:c.229G>C	p.Asp77His	p.D77H	ENST00000360314	NM_001164116.1	77	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS33492.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCAGACAGG	NONE	.	.	hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654,Superfamily_domains:SSF50044	.	.	ENSP00000360387	.	2/6	.	.	.	.	.	.	.	.	rs761295290	2/6	PASS	ENST00000371336	Transcript	.	.	ENSG00000087589	15878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.334)	.	deleterious(0.02)	.	CASS4_HUMAN	CASS4	HGNC	.	.	UPI00001285DB	SNV	CASS4,missense_variant,p.Asp77His,ENST00000371336,;CASS4,missense_variant,p.Asp77His,ENST00000360314,;CASS4,missense_variant,p.Asp77His,ENST00000434344,;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	430	132	138	SUCCESS
HAO1	54363	.	GRCh37	20	7915180	7915180	+	synonymous_variant	Silent	SNP	C	C	A	rs200105698	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	17	81	0	ENST00000378789.3:c.240G>T	p.Thr80=	p.T80=	ENST00000378789	NM_017545.2	80	acG/acT	0	G:0	.	.	.	.	A	T	protein_coding	YES	CCDS13100.1	240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCCGTAGC	NONE	byCluster	.	PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF63,Gene3D:3.20.20.70,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,Superfamily_domains:SSF51395	.	G:0.0001	ENSP00000368066	.	2/8	.	.	.	.	.	.	.	.	rs200105698	2/8	PASS	ENST00000378789	Transcript	.	.	ENSG00000101323	4809	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAOX1_HUMAN	HAO1	HGNC	A8K058_HUMAN	.	UPI000012C08B	SNV	HAO1,synonymous_variant,p.%3D,ENST00000378789,;	292	81	88	SUCCESS
CRYZL1	9946	.	GRCh37	21	34994363	34994363	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	112	357	0	ENST00000381554.3:c.156A>C	p.Glu52Asp	p.E52D	ENST00000381554	NM_145858.2	52	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS13633.2	156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATTTCTGC	NONE	.	.	hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF10,Gene3D:3.90.180.10,Pfam_domain:PF08240,SMART_domains:SM00829,Superfamily_domains:SSF50129	.	.	ENSP00000370966	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000381554	Transcript	.	.	ENSG00000205758	2420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.48)	.	QORL1_HUMAN	CRYZL1	HGNC	C9K0F7_HUMAN,C9JQD0_HUMAN,C9JAL0_HUMAN	.	UPI0000038C61	SNV	CRYZL1,missense_variant,p.Glu52Asp,ENST00000431177,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000445393,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000381554,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000381540,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000413017,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000290244,;CRYZL1,missense_variant,p.Glu76Asp,ENST00000361534,;CRYZL1,5_prime_UTR_variant,,ENST00000417979,;CRYZL1,5_prime_UTR_variant,,ENST00000426935,;AP000304.12,intron_variant,,ENST00000429238,;CRYZL1,upstream_gene_variant,,ENST00000440526,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000420072,;CRYZL1,missense_variant,p.Glu52Asp,ENST00000429827,;CRYZL1,non_coding_transcript_exon_variant,,ENST00000490714,;CRYZL1,upstream_gene_variant,,ENST00000488167,;	242	357	293	SUCCESS
TBX1	6899	.	GRCh37	22	19751710	19751710	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759363148	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	26	53	1	ENST00000329705.7:c.545C>T	p.Ala182Val	p.A182V	ENST00000329705	NM_080646.1	182	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13767.1	545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCGGGGA	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000331791	.	5/9	.	.	.	.	.	.	.	.	rs759363148	5/9	PASS	ENST00000332710	Transcript	.	.	ENSG00000184058	11592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.612)	.	deleterious(0)	.	TBX1_HUMAN	TBX1	HGNC	D9ZGG0_HUMAN	.	UPI0000073068	SNV	TBX1,missense_variant,p.Ala182Val,ENST00000332710,;TBX1,missense_variant,p.Ala182Val,ENST00000359500,;TBX1,missense_variant,p.Ala182Val,ENST00000329705,;TBX1,downstream_gene_variant,,ENST00000475303,;TBX1,upstream_gene_variant,,ENST00000484336,;	674	54	48	SUCCESS
GGT5	2687	.	GRCh37	22	24628913	24628913	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	80	0	ENST00000327365.4:c.474C>G	p.Pro158=	p.P158=	ENST00000327365	NM_001099781.1	158	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS42990.1	474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGGCAG	NONE	.	.	Prints_domain:PR01210,Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF5	.	.	ENSP00000381340	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000398292	Transcript	.	.	ENSG00000099998	4260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGT5_HUMAN	GGT5	HGNC	.	.	UPI00003B5CB9	SNV	GGT5,missense_variant,p.Leu83Val,ENST00000418439,;GGT5,synonymous_variant,p.%3D,ENST00000398292,;GGT5,synonymous_variant,p.%3D,ENST00000263112,;GGT5,synonymous_variant,p.%3D,ENST00000327365,;GGT5,downstream_gene_variant,,ENST00000424217,;	808	80	73	SUCCESS
TCF20	6942	.	GRCh37	22	42610029	42610029	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	22	108	0	ENST00000359486.3:c.1283C>G	p.Pro428Arg	p.P428R	ENST00000359486	NM_005650.2	428	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS14033.1	1283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTAGGACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	.	.	ENSP00000352463	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,missense_variant,p.Pro428Arg,ENST00000335626,;TCF20,missense_variant,p.Pro428Arg,ENST00000359486,;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	1420	108	103	SUCCESS
NCKAP5	344148	.	GRCh37	2	133554289	133554289	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	58	0	ENST00000409261.1:c.821G>A	p.Arg274His	p.R274H	ENST00000409261	NM_207363.2	274	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS46418.1	821	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGACGTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.025)	.	deleterious(0.04)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Arg274His,ENST00000409213,;NCKAP5,missense_variant,p.Arg274His,ENST00000409261,;NCKAP5,missense_variant,p.Arg274His,ENST00000405974,;NCKAP5,missense_variant,p.Arg274His,ENST00000317721,;	1195	58	48	SUCCESS
NCKAP5	344148	.	GRCh37	2	133721442	133721442	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	30	59	0	ENST00000409261.1:c.430G>A	p.Glu144Lys	p.E144K	ENST00000409261	NM_207363.2	144	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS46418.1	430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTCCTGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.84)	.	deleterious(0.01)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Glu144Lys,ENST00000409213,;NCKAP5,missense_variant,p.Glu144Lys,ENST00000409261,;NCKAP5,missense_variant,p.Glu144Lys,ENST00000405974,;NCKAP5,missense_variant,p.Glu144Lys,ENST00000317721,;	804	59	47	SUCCESS
XIRP2	129446	.	GRCh37	2	168105658	168105658	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	198	39	204	1	ENST00000409195.1:c.7756G>C	p.Glu2586Gln	p.E2586Q	ENST00000409195	NM_152381.5	2586	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS42769.1	7756	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGAAATG	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.039)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Glu2364Gln,ENST00000409273,;XIRP2,missense_variant,p.Glu2586Gln,ENST00000409195,;XIRP2,missense_variant,p.Glu2586Gln,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	7845	205	238	SUCCESS
CFLAR	8837	.	GRCh37	2	201994647	201994647	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	67	115	0	ENST00000309955.3:c.59T>C	p.Met20Thr	p.M20T	ENST00000309955	NM_003879.5	20	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS2337.1	59	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGCTGC	NONE	.	.	PROSITE_profiles:PS50168,hmmpanther:PTHR10454,Gene3D:1.10.533.10,Pfam_domain:PF01335,SMART_domains:SM00031,Superfamily_domains:SSF47986	.	.	ENSP00000312455	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000309955	Transcript	.	.	ENSG00000003402	1876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.48)	.	CFLAR_HUMAN	CFLAR	HGNC	M0QYM0_HUMAN,C9JV51_HUMAN,C9JSU3_HUMAN,C9J4Q0_HUMAN,C9J408_HUMAN	.	UPI0000030475	SNV	CFLAR,missense_variant,p.Met20Thr,ENST00000395148,;CFLAR,missense_variant,p.Met20Thr,ENST00000341222,;CFLAR,missense_variant,p.Met20Thr,ENST00000340870,;CFLAR,missense_variant,p.Met20Thr,ENST00000457277,;CFLAR,missense_variant,p.Met20Thr,ENST00000417748,;CFLAR,missense_variant,p.Met20Thr,ENST00000341582,;CFLAR,missense_variant,p.Met20Thr,ENST00000342795,;CFLAR,missense_variant,p.Met20Thr,ENST00000433445,;CFLAR,missense_variant,p.Met20Thr,ENST00000355558,;CFLAR,missense_variant,p.Met20Thr,ENST00000309955,;CFLAR,missense_variant,p.Met20Thr,ENST00000425030,;CFLAR,missense_variant,p.Met20Thr,ENST00000440180,;CFLAR,missense_variant,p.Met20Thr,ENST00000441224,;CFLAR,missense_variant,p.Met20Thr,ENST00000423241,;CFLAR,intron_variant,,ENST00000443227,;CFLAR,upstream_gene_variant,,ENST00000494258,;CFLAR,upstream_gene_variant,,ENST00000462763,;CFLAR,upstream_gene_variant,,ENST00000479953,;CFLAR,upstream_gene_variant,,ENST00000470178,;CFLAR,missense_variant,p.Met20Thr,ENST00000439154,;CFLAR,non_coding_transcript_exon_variant,,ENST00000461820,;CFLAR,upstream_gene_variant,,ENST00000461422,;CFLAR,upstream_gene_variant,,ENST00000460961,;	574	115	114	SUCCESS
DYTN	391475	.	GRCh37	2	207559510	207559510	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	48	0	ENST00000452335.2:c.811G>A	p.Val271Ile	p.V271I	ENST00000452335	NM_001093730.1	271	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS46502.1	811	RADIA|MUTECT|VARSCANS	.	AATGACAGGAT	NONE	.	.	Superfamily_domains:SSF57850,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	.	.	ENSP00000396593	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000452335	Transcript	.	.	ENSG00000232125	23279	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.055)	.	deleterious(0.04)	.	DYTN_HUMAN	DYTN	HGNC	.	.	UPI0000EE0AB9	SNV	DYTN,missense_variant,p.Val271Ile,ENST00000452335,;DYTN,downstream_gene_variant,,ENST00000477734,;	928	48	43	SUCCESS
KCNE4	23704	.	GRCh37	2	223917618	223917618	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750286653	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	28	44	0	ENST00000281830.3:c.223C>T	p.Arg75Cys	p.R75C	ENST00000281830	NM_080671.3	75	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	70	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCCGTGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20918:SF0,hmmpanther:PTHR20918	.	.	ENSP00000473755	.	2/2	.	.	.	.	.	.	.	.	rs750286653	2/2	PASS	ENST00000604125	Transcript	.	.	ENSG00000152049	6244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.448)	.	tolerated(0.05)	.	KCNE4_HUMAN	KCNE4	HGNC	Q2N1I0_HUMAN,A5H1P5_HUMAN	.	UPI000013DCA0	SNV	KCNE4,missense_variant,p.Arg24Cys,ENST00000604125,;KCNE4,missense_variant,p.Arg75Cys,ENST00000281830,;KCNE4,intron_variant,,ENST00000488477,;	224	44	36	SUCCESS
CUL3	8452	.	GRCh37	2	225367700	225367700	+	synonymous_variant	Silent	SNP	T	T	C	rs371616108	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	87	0	ENST00000264414.4:c.1467A>G	p.Gln489=	p.Q489=	ENST00000264414	NM_003590.4	489	caA/caG	0	C:0.0002	.	.	.	.	C	Q	protein_coding	YES	CCDS2462.1	1467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTTGCCT	NONE	byCluster	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.20.1310.10,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	C:0	ENSP00000264414	.	10/16	.	.	.	.	.	.	.	.	rs371616108	10/16	PASS	ENST00000264414	Transcript	.	.	ENSG00000036257	2553	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL3_HUMAN	CUL3	HGNC	Q53S54_HUMAN,Q53RD1_HUMAN	.	UPI0000001C83	SNV	CUL3,synonymous_variant,p.%3D,ENST00000344951,;CUL3,synonymous_variant,p.%3D,ENST00000264414,;CUL3,synonymous_variant,p.%3D,ENST00000409777,;CUL3,synonymous_variant,p.%3D,ENST00000409096,;CUL3,downstream_gene_variant,,ENST00000484081,;CUL3,downstream_gene_variant,,ENST00000481135,;CUL3,upstream_gene_variant,,ENST00000487558,;AC073052.1,upstream_gene_variant,,ENST00000440417,;	1806	87	56	SUCCESS
NEU2	4759	.	GRCh37	2	233899058	233899058	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748593843	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	26	74	1	ENST00000233840.3:c.434C>T	p.Ala145Val	p.A145V	ENST00000233840	NM_005383.2	145	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS2501.1	434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCGGCCA	NONE	byFrequency	.	hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	.	.	ENSP00000233840	.	2/2	.	.	.	.	.	.	.	.	rs748593843	2/2	PASS	ENST00000233840	Transcript	.	.	ENSG00000115488	7759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.09)	.	NEUR2_HUMAN	NEU2	HGNC	.	.	UPI000013C98F	SNV	NEU2,missense_variant,p.Ala145Val,ENST00000233840,;	434	75	40	SUCCESS
STK25	10494	.	GRCh37	2	242438683	242438683	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	63	0	ENST00000316586.4:c.574T>C	p.Tyr192His	p.Y192H	ENST00000316586	NM_001282308.1	192	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS2549.1	574	MUTECT|MUSE	.	GTCGTAGGCCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF208,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000325748	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000316586	Transcript	.	.	ENSG00000115694	11404	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	STK25_HUMAN	STK25	HGNC	E7EM58_HUMAN,C9JJV0_HUMAN,C9JDH9_HUMAN,C9JCC0_HUMAN,C9J232_HUMAN,B7Z9K1_HUMAN	.	UPI0000000C8C	SNV	STK25,missense_variant,p.Tyr98His,ENST00000442307,;STK25,missense_variant,p.Tyr96His,ENST00000424537,;STK25,missense_variant,p.Tyr74His,ENST00000423004,;STK25,missense_variant,p.Tyr115His,ENST00000405585,;STK25,missense_variant,p.Tyr192His,ENST00000403346,;STK25,missense_variant,p.Tyr192His,ENST00000401869,;STK25,missense_variant,p.Tyr98His,ENST00000535007,;STK25,missense_variant,p.Tyr98His,ENST00000543554,;STK25,missense_variant,p.Tyr98His,ENST00000450497,;STK25,missense_variant,p.Tyr98His,ENST00000413760,;STK25,missense_variant,p.Tyr192His,ENST00000316586,;STK25,missense_variant,p.Tyr115His,ENST00000405883,;STK25,downstream_gene_variant,,ENST00000426941,;STK25,downstream_gene_variant,,ENST00000420551,;FARP2,downstream_gene_variant,,ENST00000412332,;STK25,downstream_gene_variant,,ENST00000440109,;STK25,downstream_gene_variant,,ENST00000429279,;STK25,downstream_gene_variant,,ENST00000435225,;FARP2,downstream_gene_variant,,ENST00000264042,;STK25,downstream_gene_variant,,ENST00000439101,;STK25,downstream_gene_variant,,ENST00000436402,;STK25,non_coding_transcript_exon_variant,,ENST00000461760,;STK25,upstream_gene_variant,,ENST00000470438,;STK25,downstream_gene_variant,,ENST00000483603,;STK25,upstream_gene_variant,,ENST00000472181,;STK25,upstream_gene_variant,,ENST00000478403,;STK25,downstream_gene_variant,,ENST00000452891,;STK25,downstream_gene_variant,,ENST00000436917,;STK25,non_coding_transcript_exon_variant,,ENST00000487962,;STK25,non_coding_transcript_exon_variant,,ENST00000495143,;STK25,downstream_gene_variant,,ENST00000479442,;STK25,downstream_gene_variant,,ENST00000496159,;STK25,upstream_gene_variant,,ENST00000494699,;STK25,downstream_gene_variant,,ENST00000495372,;STK25,downstream_gene_variant,,ENST00000492127,;STK25,upstream_gene_variant,,ENST00000462953,;FARP2,downstream_gene_variant,,ENST00000470617,;STK25,upstream_gene_variant,,ENST00000465009,;	924	63	37	SUCCESS
CASR	846	.	GRCh37	3	121981009	121981009	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	130	0	ENST00000490131.1:c.1127G>A	p.Gly376Asp	p.G376D	ENST00000490131	NM_000388.3	376	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS54632.1	1127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGTCACG	NONE	.	.	hmmpanther:PTHR24061:SF358,hmmpanther:PTHR24061,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000420194	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000498619	Transcript	.	.	ENSG00000036828	1514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.12)	.	.	CASR	HGNC	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN,Q2F3K2_HUMAN,E7ENE0_HUMAN	.	UPI000020A065	SNV	CASR,missense_variant,p.Gly376Asp,ENST00000296154,;CASR,missense_variant,p.Gly376Asp,ENST00000498619,;CASR,missense_variant,p.Gly376Asp,ENST00000490131,;CASR,downstream_gene_variant,,ENST00000490186,;	1565	130	93	SUCCESS
SEMA5B	54437	.	GRCh37	3	122632773	122632773	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	32	0	ENST00000357599.3:c.2064G>A	p.Gln688=	p.Q688=	ENST00000357599	NM_001256348.1	688	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS58848.1	2226	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCGCTGGCG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF39,hmmpanther:PTHR11036,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000389588	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,synonymous_variant,p.%3D,ENST00000357599,;SEMA5B,synonymous_variant,p.%3D,ENST00000195173,;SEMA5B,synonymous_variant,p.%3D,ENST00000451055,;SEMA5B,synonymous_variant,p.%3D,ENST00000393583,;SEMA5B,upstream_gene_variant,,ENST00000451541,;SEMA5B,synonymous_variant,p.%3D,ENST00000475244,;	2237	32	32	SUCCESS
ATR	545	.	GRCh37	3	142232443	142232443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	60	282	0	ENST00000350721.4:c.4541G>T	p.Cys1514Phe	p.C1514F	ENST00000350721	NM_001184.3	1514	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS3124.1	4541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTACAGCAG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64	.	.	ENSP00000343741	.	26/47	.	.	.	.	.	.	.	.	.	26/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Cys1450Phe,ENST00000383101,;ATR,missense_variant,p.Cys1514Phe,ENST00000350721,;	4663	282	198	SUCCESS
CHL1	10752	.	GRCh37	3	443359	443359	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs574347521	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	79	0	ENST00000397491.2:c.3388G>A	p.Asp1130Asn	p.D1130N	ENST00000397491		1130	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2556.1	3436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAGATGAA	NONE	byCluster	.	hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Pfam_domain:PF13882	.	.	ENSP00000256509	.	27/28	.	.	.	.	.	.	.	.	rs574347521	27/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.Asp1130Asn,ENST00000397491,;CHL1,missense_variant,p.Asp280Asn,ENST00000445697,;CHL1,missense_variant,p.Asp1146Asn,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000453040,;	4078	79	51	SUCCESS
TRIM60	166655	.	GRCh37	4	165962556	165962556	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	79	1	ENST00000341062.5:c.1332C>T	p.Phe444=	p.F444=	ENST00000341062		444	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS3808.1	1332	RADIA|MUTECT|MUSE	.	TGTTTCACAGA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000421142	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000512596	Transcript	.	.	ENSG00000176979	21162	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI60_HUMAN	TRIM60	HGNC	D6RAS2_HUMAN	.	UPI000006DAAD	SNV	TRIM60,synonymous_variant,p.%3D,ENST00000341062,;TRIM60,synonymous_variant,p.%3D,ENST00000512596,;TRIM60,synonymous_variant,p.%3D,ENST00000508504,;TRIM60,downstream_gene_variant,,ENST00000507119,;RP11-366M4.17,upstream_gene_variant,,ENST00000508621,;	1548	80	79	SUCCESS
TRIM60	166655	.	GRCh37	4	165962559	165962559	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	19	81	0	ENST00000341062.5:c.1335A>T	p.Thr445=	p.T445=	ENST00000341062		445	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3808.1	1335	RADIA|MUTECT|MUSE	.	TTCACAGAAGC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000421142	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000512596	Transcript	.	.	ENSG00000176979	21162	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI60_HUMAN	TRIM60	HGNC	D6RAS2_HUMAN	.	UPI000006DAAD	SNV	TRIM60,synonymous_variant,p.%3D,ENST00000341062,;TRIM60,synonymous_variant,p.%3D,ENST00000512596,;TRIM60,synonymous_variant,p.%3D,ENST00000508504,;TRIM60,downstream_gene_variant,,ENST00000507119,;RP11-366M4.17,upstream_gene_variant,,ENST00000508621,;	1551	81	79	SUCCESS
TLL1	7092	.	GRCh37	4	166976398	166976398	+	synonymous_variant	Silent	SNP	A	A	G	rs758162833	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	41	110	0	ENST00000061240.2:c.1695A>G	p.Ala565=	p.A565=	ENST00000061240	NM_012464.4	565	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS3811.1	1695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCAGGGTT	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000061240	.	13/21	.	.	.	.	.	.	.	.	rs758162833	13/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,synonymous_variant,p.%3D,ENST00000061240,;TLL1,synonymous_variant,p.%3D,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	2342	111	96	SUCCESS
FRYL	285527	.	GRCh37	4	48512111	48512111	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	66	0	ENST00000358350.4:c.8359G>A	p.Asp2787Asn	p.D2787N	ENST00000358350	NM_015030.1	2787	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS43227.1	8359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATCCAGGT	NONE	.	.	hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	.	.	ENSP00000351113	.	59/64	.	.	.	.	.	.	.	.	COSM587358	59/64	PASS	ENST00000358350	Transcript	.	.	ENSG00000075539	29127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	1	FRYL_HUMAN	FRYL	HGNC	.	.	UPI0000EBC149	SNV	FRYL,missense_variant,p.Asp2787Asn,ENST00000358350,;FRYL,missense_variant,p.Asp2787Asn,ENST00000503238,;FRYL,missense_variant,p.Asp183Asn,ENST00000507873,;FRYL,missense_variant,p.Asp183Asn,ENST00000264319,;FRYL,missense_variant,p.Asp2787Asn,ENST00000537810,;FRYL,non_coding_transcript_exon_variant,,ENST00000512810,;FRYL,upstream_gene_variant,,ENST00000503339,;	8964	66	51	SUCCESS
PCDHA3	56145	.	GRCh37	5	140181914	140181914	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782306537	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	10	108	0	ENST00000522353.2:c.1132G>A	p.Asp378Asn	p.D378N	ENST00000522353	NM_018906.2	378	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54915.1	1132	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCGACTCA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	rs782306537,COSM205046,COSM205047	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	0,1,1	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,missense_variant,p.Asp378Asn,ENST00000532566,;PCDHA3,missense_variant,p.Asp378Asn,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA4,upstream_gene_variant,,ENST00000530339,;PCDHA4,upstream_gene_variant,,ENST00000356878,;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA2,downstream_gene_variant,,ENST00000378132,;	1132	108	74	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178562943	178562943	+	synonymous_variant	Silent	SNP	G	G	A	rs370799965	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	92	1	ENST00000251582.7:c.2052C>T	p.Asp684=	p.D684=	ENST00000251582	NM_014244.4	684	gaC/gaT	0	A:0.0002	.	.	.	.	A	D	protein_coding	YES	CCDS4444.1	2052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGTCCTT	NONE	byFrequency|byCluster	.	Prints_domain:PR01857,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	.	A:0	ENSP00000251582	.	13/22	.	.	.	.	.	.	.	.	rs370799965,COSM26543,COSM1436480	13/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,synonymous_variant,p.%3D,ENST00000251582,;	2154	93	84	SUCCESS
PDE8B	8622	.	GRCh37	5	76633096	76633096	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	16	148	0	ENST00000264917.5:c.753G>C	p.Leu251=	p.L251=	ENST00000264917	NM_003719.3	251	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4037.1	753	RADIA|MUTECT|MUSE|VARSCANS	.	GAACTGATTCA	NONE	.	.	hmmpanther:PTHR11347:SF98,hmmpanther:PTHR11347,Pfam_domain:PF00072	.	.	ENSP00000264917	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000264917	Transcript	1	.	ENSG00000113231	8794	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDE8B_HUMAN	PDE8B	HGNC	Q3ZCR2_HUMAN,D6RH10_HUMAN,D6R9W0_HUMAN,B3KN77_HUMAN	.	UPI0000001BBE	SNV	PDE8B,synonymous_variant,p.%3D,ENST00000333194,;PDE8B,synonymous_variant,p.%3D,ENST00000346042,;PDE8B,synonymous_variant,p.%3D,ENST00000503963,;PDE8B,synonymous_variant,p.%3D,ENST00000342343,;PDE8B,synonymous_variant,p.%3D,ENST00000264917,;PDE8B,synonymous_variant,p.%3D,ENST00000340978,;	798	148	115	SUCCESS
DMGDH	29958	.	GRCh37	5	78320120	78320120	+	synonymous_variant	Silent	SNP	G	G	A	rs757937639	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	82	277	0	ENST00000255189.3:c.2224C>T	p.Leu742=	p.L742=	ENST00000255189	NM_013391.3	742	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4044.1	2224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGTCCAG	NONE	byFrequency	.	Pfam_domain:PF01571,Superfamily_domains:SSF103025	.	.	ENSP00000255189	.	14/16	.	.	.	.	.	.	.	.	rs757937639	14/16	PASS	ENST00000255189	Transcript	1	.	ENSG00000132837	24475	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M2GD_HUMAN	DMGDH	HGNC	.	.	UPI000013CE96	SNV	DMGDH,synonymous_variant,p.%3D,ENST00000523732,;DMGDH,synonymous_variant,p.%3D,ENST00000380311,;DMGDH,synonymous_variant,p.%3D,ENST00000540686,;DMGDH,synonymous_variant,p.%3D,ENST00000255189,;DMGDH,downstream_gene_variant,,ENST00000523201,;DMGDH,3_prime_UTR_variant,,ENST00000518477,;DMGDH,3_prime_UTR_variant,,ENST00000517853,;	2253	277	223	SUCCESS
TMEM161B	153396	.	GRCh37	5	87564594	87564594	+	5_prime_UTR_variant	5'UTR	DEL	A	A	-	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	14	142	0	ENST00000296595.6:c.-54del		p.*18*	ENST00000296595	NM_153354.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4065.1	.	INDELOCATOR*|VARSCANI*|VARSCANS*|PINDEL	.	AGTCCCAAACCT	NONE	.	.	.	.	.	ENSP00000296595	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000296595	Transcript	.	.	ENSG00000164180	28483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T161B_HUMAN	TMEM161B	HGNC	D6RBE8_HUMAN,B7Z6T3_HUMAN	.	UPI000007229D	deletion	TMEM161B,5_prime_UTR_variant,,ENST00000296595,;TMEM161B,5_prime_UTR_variant,,ENST00000506536,;TMEM161B,5_prime_UTR_variant,,ENST00000514135,;TMEM161B,5_prime_UTR_variant,,ENST00000509387,;TMEM161B,5_prime_UTR_variant,,ENST00000512429,;TMEM161B-AS1,upstream_gene_variant,,ENST00000504922,;TMEM161B-AS1,upstream_gene_variant,,ENST00000510087,;TMEM161B-AS1,upstream_gene_variant,,ENST00000513011,;TMEM161B-AS1,upstream_gene_variant,,ENST00000496733,;TMEM161B-AS1,upstream_gene_variant,,ENST00000504769,;TMEM161B-AS1,upstream_gene_variant,,ENST00000501715,;TMEM161B-AS1,upstream_gene_variant,,ENST00000501869,;TMEM161B-AS1,upstream_gene_variant,,ENST00000504636,;TMEM161B-AS1,upstream_gene_variant,,ENST00000512724,;TMEM161B-AS1,upstream_gene_variant,,ENST00000506584,;TMEM161B-AS1,upstream_gene_variant,,ENST00000507736,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000515477,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000503755,;TMEM161B,intron_variant,,ENST00000503194,;TMEM161B,intron_variant,,ENST00000513487,;TMEM161B,5_prime_UTR_variant,,ENST00000510089,;TMEM161B,5_prime_UTR_variant,,ENST00000507872,;TMEM161B,5_prime_UTR_variant,,ENST00000511087,;	72	142	132	SUCCESS
GPR98	0	.	GRCh37	5	89990343	89990343	+	synonymous_variant	Silent	SNP	C	C	T	rs201767905	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	62	0	ENST00000405460.2:c.7770C>T	p.Ser2590=	p.S2590=	ENST00000405460	NM_032119.3	2590	tcC/tcT	0	.	T:0.0008	.	T:0	.	T	S	protein_coding	YES	CCDS47246.1	7770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCGAAGA	NONE	byFrequency|byCluster|by1000G	.	SMART_domains:SM00237,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	T:0	.	ENSP00000384582	T:0.001	33/90	.	.	.	.	.	.	.	.	rs201767905,COSM3618613	33/90	PASS	ENST00000405460	Transcript	1	T:0.0004	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;GPR98,synonymous_variant,p.%3D,ENST00000509621,;	7866	62	60	SUCCESS
MAP3K5	4217	.	GRCh37	6	137041704	137041704	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1439371428	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	75	0	ENST00000359015.4:c.472G>A	p.Asp158Asn	p.D158N	ENST00000359015	NM_005923.3	158	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5179.1	472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATCGCTCA	NONE	.	.	hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332	.	.	ENSP00000351908	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000359015	Transcript	.	.	ENSG00000197442	6857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	tolerated(0.1)	.	M3K5_HUMAN	MAP3K5	HGNC	A6NIA0_HUMAN	.	UPI000012EAD5	SNV	MAP3K5,missense_variant,p.Asp158Asn,ENST00000359015,;	833	75	65	SUCCESS
PLG	5340	.	GRCh37	6	161174062	161174062	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	27	151	0	ENST00000308192.9:c.2402C>T	p.Thr801Ile	p.T801I	ENST00000308192	NM_000301.3	801	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS5279.1	2402	RADIA|MUSE|VARSCANS	.	TGTTACTTGGA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001150,Superfamily_domains:SSF50494	.	.	ENSP00000308938	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000308192	Transcript	.	.	ENSG00000122194	9071	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.309)	.	tolerated(0.06)	.	PLMN_HUMAN	PLG	HGNC	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN	.	UPI000000D8B8	SNV	PLG,missense_variant,p.Thr801Ile,ENST00000308192,;PLG,non_coding_transcript_exon_variant,,ENST00000461414,;PLG,downstream_gene_variant,,ENST00000467466,;	2465	151	124	SUCCESS
PDE10A	10846	.	GRCh37	6	165827145	165827145	+	synonymous_variant	Silent	SNP	C	C	T	rs765231391	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	50	116	0	ENST00000366882.1:c.1092G>A	p.Thr364=	p.T364=	ENST00000366882		364	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS47513.1	1122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGCGTGGT	NONE	byFrequency	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781	.	.	ENSP00000438284	.	13/22	.	.	.	.	.	.	.	.	rs765231391	13/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,synonymous_variant,p.%3D,ENST00000354448,;PDE10A,synonymous_variant,p.%3D,ENST00000539869,;PDE10A,synonymous_variant,p.%3D,ENST00000366882,;RNA5SP226,downstream_gene_variant,,ENST00000362653,;	1178	116	79	SUCCESS
HIST1H1C	0	.	GRCh37	6	26056402	26056402	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	81	0	ENST00000343677.2:c.255G>C	p.Lys85Asn	p.K85N	ENST00000343677	NM_005319.3	85	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS4577.1	255	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCTTGAG	NONE	.	.	PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467,Pfam_domain:PF00538,Gene3D:1.10.10.10,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624	.	.	ENSP00000339566	.	1/1	.	.	.	.	.	.	.	.	COSM1545822	1/1	PASS	ENST00000343677	Transcript	.	.	ENSG00000187837	4716	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.988)	.	deleterious(0)	1	H12_HUMAN	HIST1H1C	HGNC	.	.	UPI0000001BD9	SNV	HIST1H1C,missense_variant,p.Lys85Asn,ENST00000343677,;	298	81	111	SUCCESS
ZKSCAN3	80317	.	GRCh37	6	28333341	28333341	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	56	97	0	ENST00000252211.2:c.896G>A	p.Gly299Asp	p.G299D	ENST00000252211	NM_024493.3	299	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4650.1	896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGCAGGC	NONE	.	.	hmmpanther:PTHR23226:SF55,hmmpanther:PTHR23226	.	.	ENSP00000366465	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377255	Transcript	.	.	ENSG00000189298	13853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.12)	.	ZKSC3_HUMAN	ZKSCAN3	HGNC	.	.	UPI000013CD4A	SNV	ZKSCAN3,missense_variant,p.Gly299Asp,ENST00000252211,;ZKSCAN3,missense_variant,p.Gly151Asp,ENST00000341464,;ZKSCAN3,missense_variant,p.Gly299Asp,ENST00000377255,;	1193	97	144	SUCCESS
EGFL8	80864	.	GRCh37	6	32134255	32134255	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	17	141	0	ENST00000333845.6:c.102-20A>C		p.*34*	ENST00000333845	NM_030652.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4743.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCATCCTC	NONE	.	.	.	.	.	ENSP00000378888	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000395512	Transcript	.	.	ENSG00000241404	13944	.	.	MODIFIER	2/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EGFL8_HUMAN	EGFL8	HGNC	.	.	UPI000006FB40	SNV	EGFL8,intron_variant,,ENST00000395512,;EGFL8,intron_variant,,ENST00000333845,;EGFL8,intron_variant,,ENST00000432129,;AGPAT1,downstream_gene_variant,,ENST00000395496,;PPT2,downstream_gene_variant,,ENST00000395523,;PPT2,downstream_gene_variant,,ENST00000324816,;AGPAT1,downstream_gene_variant,,ENST00000375107,;AGPAT1,downstream_gene_variant,,ENST00000395499,;AGPAT1,downstream_gene_variant,,ENST00000375104,;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000395497,;AGPAT1,downstream_gene_variant,,ENST00000336984,;PPT2,downstream_gene_variant,,ENST00000361568,;PPT2,downstream_gene_variant,,ENST00000375137,;AGPAT1,downstream_gene_variant,,ENST00000412465,;PPT2,downstream_gene_variant,,ENST00000445576,;PPT2,downstream_gene_variant,,ENST00000437001,;PPT2-EGFL8,non_coding_transcript_exon_variant,,ENST00000453656,;PPT2,downstream_gene_variant,,ENST00000493548,;EGFL8,upstream_gene_variant,,ENST00000489721,;AGPAT1,downstream_gene_variant,,ENST00000476663,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000428388,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000421600,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000583227,;EGFL8,non_coding_transcript_exon_variant,,ENST00000466239,;PPT2-EGFL8,intron_variant,,ENST00000422437,;EGFL8,intron_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;	.	142	127	SUCCESS
MOCS1	4337	.	GRCh37	6	39895145	39895145	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	47	0	ENST00000340692.5:c.173C>T	p.Ser58Phe	p.S58F	ENST00000340692		58	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS4846.1	173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGGAGAAG	NONE	.	.	hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960	.	.	ENSP00000362282	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000373186	Transcript	.	.	ENSG00000124615	7190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	MOCS1_HUMAN	MOCS1	HGNC	Q9NP27_HUMAN	.	UPI000006FA21	SNV	MOCS1,missense_variant,p.Ser58Phe,ENST00000425303,;MOCS1,missense_variant,p.Ser58Phe,ENST00000373188,;MOCS1,missense_variant,p.Ser29Phe,ENST00000373175,;MOCS1,missense_variant,p.Ser58Phe,ENST00000340692,;MOCS1,missense_variant,p.Ser58Phe,ENST00000308559,;MOCS1,missense_variant,p.Ser58Phe,ENST00000373186,;MOCS1,missense_variant,p.Ser29Phe,ENST00000432280,;MOCS1,intron_variant,,ENST00000373195,;MOCS1,missense_variant,p.Ser58Phe,ENST00000487924,;MOCS1,5_prime_UTR_variant,,ENST00000373181,;MOCS1,intron_variant,,ENST00000473742,;	311	47	46	SUCCESS
CUL7	9820	.	GRCh37	6	43005507	43005507	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	59	0	ENST00000265348.3:c.5016C>T	p.Thr1672=	p.T1672=	ENST00000265348		1672	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS55003.1	5268	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGGTGAG	NONE	.	.	hmmpanther:PTHR22771:SF3,hmmpanther:PTHR22771	.	.	ENSP00000438788	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000535468	Transcript	.	.	ENSG00000044090	21024	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CUL7_HUMAN	CUL7	HGNC	.	.	UPI0001BE8116	SNV	CUL7,synonymous_variant,p.%3D,ENST00000535468,;CUL7,synonymous_variant,p.%3D,ENST00000265348,;RN7SL403P,upstream_gene_variant,,ENST00000481783,;RP1-20C7.6,upstream_gene_variant,,ENST00000607790,;RRP36,downstream_gene_variant,,ENST00000607555,;RRP36,downstream_gene_variant,,ENST00000607394,;KLC4,upstream_gene_variant,,ENST00000467906,;	5355	59	69	SUCCESS
TFAP2D	83741	.	GRCh37	6	50683121	50683121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	52	107	0	ENST00000008391.3:c.332C>T	p.Thr111Ile	p.T111I	ENST00000008391	NM_172238.3	111	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS4933.1	332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACCGACT	NONE	.	.	hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5	.	.	ENSP00000008391	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.08)	.	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,missense_variant,p.Thr111Ile,ENST00000008391,;TFAP2D,upstream_gene_variant,,ENST00000492804,;	560	107	84	SUCCESS
ZAN	7455	.	GRCh37	7	100361668	100361668	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	39	0	ENST00000546292.1:c.4116G>T	p.Val1372=	p.V1372=	ENST00000546292	NM_173059.1	1372	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	.	4116	RADIA|VARSCANS	.	CACGTGAAGGC	NONE	.	.	SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339	.	.	ENSP00000445943	.	21/46	.	.	.	.	.	.	.	.	.	21/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	4264	39	37	SUCCESS
CPA5	93979	.	GRCh37	7	130002379	130002379	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	32	0	ENST00000393213.3:c.635A>T	p.Lys212Met	p.K212M	ENST00000393213		212	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS5819.1	635	RADIA|SOMATICSNIPER	.	CAATAAGGTCA	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF16,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000420237	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000485477	Transcript	.	.	ENSG00000158525	15722	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	CBPA5_HUMAN	CPA5	HGNC	A4D1M2_HUMAN,C9JZE9_HUMAN,C9JRV5_HUMAN	.	UPI000000D837	SNV	CPA5,missense_variant,p.Lys212Met,ENST00000466363,;CPA5,missense_variant,p.Lys212Met,ENST00000461828,;CPA5,missense_variant,p.Lys212Met,ENST00000474905,;CPA5,missense_variant,p.Lys212Met,ENST00000393213,;CPA5,missense_variant,p.Lys212Met,ENST00000355388,;CPA5,missense_variant,p.Lys212Met,ENST00000485477,;CPA5,missense_variant,p.Lys212Met,ENST00000431780,;CPA5,downstream_gene_variant,,ENST00000463587,;CPA5,upstream_gene_variant,,ENST00000479492,;CPA5,splice_region_variant,,ENST00000495736,;	1764	32	15	SUCCESS
ABCB5	340273	.	GRCh37	7	20738174	20738174	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs756265243	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	76	0	ENST00000404938.2:c.2154+1G>A		p.X718_splice	ENST00000404938	NM_001163941.1	718		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55090.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCGTAAGT	NONE	byFrequency	.	.	.	.	ENSP00000384881	.	.	.	.	.	.	.	.	.	.	rs756265243	.	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	HIGH	17/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,splice_donor_variant,,ENST00000258738,;ABCB5,splice_donor_variant,,ENST00000404938,;	.	76	60	SUCCESS
CHN2	1124	.	GRCh37	7	29407574	29407574	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs373908314	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	28	0	ENST00000222792.6:c.115C>T	p.Arg39Cys	p.R39C	ENST00000222792	NM_004067.2	39	Cgt/Tgt	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS5420.1	115	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCGTCCC	NONE	byCluster	.	Superfamily_domains:SSF55550,PIRSF_domain:PIRSF038015,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7	.	T:0.0001	ENSP00000222792	.	3/13	.	.	.	.	.	.	.	.	rs373908314,COSM452932	3/13	PASS	ENST00000222792	Transcript	.	.	ENSG00000106069	1944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.983)	.	deleterious(0.01)	0,1	CHIO_HUMAN	CHN2	HGNC	A4D1A2_HUMAN	.	UPI000012781F	SNV	CHN2,missense_variant,p.Arg52Cys,ENST00000409350,;CHN2,missense_variant,p.Arg114Cys,ENST00000439384,;CHN2,missense_variant,p.Arg39Cys,ENST00000435288,;CHN2,missense_variant,p.Arg24Cys,ENST00000546235,;CHN2,missense_variant,p.Arg114Cys,ENST00000539406,;CHN2,missense_variant,p.Arg52Cys,ENST00000495789,;CHN2,missense_variant,p.Arg39Cys,ENST00000222792,;CHN2,missense_variant,p.Arg39Cys,ENST00000539389,;CHN2,non_coding_transcript_exon_variant,,ENST00000409964,;CHN2,non_coding_transcript_exon_variant,,ENST00000482820,;CHN2,non_coding_transcript_exon_variant,,ENST00000478128,;CHN2,non_coding_transcript_exon_variant,,ENST00000409922,;CHN2,non_coding_transcript_exon_variant,,ENST00000412536,;CHN2,non_coding_transcript_exon_variant,,ENST00000483081,;CHN2,synonymous_variant,p.%3D,ENST00000474070,;	645	28	31	SUCCESS
POU6F2	11281	.	GRCh37	7	39472733	39472733	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs535259814	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	167	1	ENST00000403058.1:c.1084G>A	p.Gly362Ser	p.G362S	ENST00000403058	NM_001166018.1	362	Ggc/Agc	0	.	A:0	.	A:0	.	A	G/S	protein_coding	YES	CCDS34620.2	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCGGCACT	NONE	by1000G	.	hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636	A:0	.	ENSP00000384004	A:0	8/11	.	.	.	.	.	.	.	.	rs535259814	8/11	PASS	ENST00000403058	Transcript	.	A:0.0002	ENSG00000106536	21694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0.001	tolerated(0.17)	.	PO6F2_HUMAN	POU6F2	HGNC	H0YL15_HUMAN	.	UPI0000480E81	SNV	POU6F2,missense_variant,p.Gly354Ser,ENST00000520104,;POU6F2,missense_variant,p.Gly362Ser,ENST00000403058,;POU6F2,missense_variant,p.Gly307Ser,ENST00000559001,;POU6F2,missense_variant,p.Gly307Ser,ENST00000524147,;POU6F2,missense_variant,p.Gly362Ser,ENST00000518318,;POU6F2,missense_variant,p.Gly61Ser,ENST00000416452,;	1238	168	101	SUCCESS
PMS2CL	441194	.	GRCh37	7	6786666	6786666	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	38	194	0	ENST00000403974.2:n.1216-1G>C		p.X406_splice	ENST00000403974		406		0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGCTCCA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403974	Transcript	.	.	ENSG00000187953	30061	.	.	HIGH	4/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PMS2CL	HGNC	.	.	.	SNV	PMS2CL,splice_acceptor_variant,,ENST00000431453,;PMS2CL,splice_acceptor_variant,,ENST00000486256,;PMS2CL,splice_acceptor_variant,,ENST00000403974,;	.	194	179	SUCCESS
PCLO	27445	.	GRCh37	7	82451667	82451667	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	15	0	ENST00000333891.9:c.14791+144A>G		p.*4931*	ENST00000333891	NM_033026.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47630.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATATCGTTC	NONE	.	.	.	.	.	ENSP00000334319	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODIFIER	20/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,3_prime_UTR_variant,,ENST00000423517,;PCLO,intron_variant,,ENST00000333891,;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,intron_variant,,ENST00000432078,;	.	15	19	SUCCESS
TEX15	56154	.	GRCh37	8	30705184	30705184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	42	95	0	ENST00000256246.2:c.1350G>T	p.Arg450Ser	p.R450S	ENST00000256246	NM_031271.3	450	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS6080.1	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCCCTATC	NONE	.	.	hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	.	.	ENSP00000256246	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000256246	Transcript	.	.	ENSG00000133863	11738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.08)	.	TEX15_HUMAN	TEX15	HGNC	D3DSV6_HUMAN	.	UPI000013CEF9	SNV	TEX15,missense_variant,p.Arg450Ser,ENST00000256246,;TEX15,downstream_gene_variant,,ENST00000523186,;	1425	95	58	SUCCESS
FGFR1	2260	.	GRCh37	8	38280658	38280658	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	25	80	0	ENST00000425967.3:c.1030-1199G>A		p.*344*	ENST00000425967	NM_001174067.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55223.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCAGCAC	NONE	.	.	.	.	.	ENSP00000393312	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425967	Transcript	1	.	ENSG00000077782	3688	.	.	MODIFIER	8/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGFR1_HUMAN	FGFR1	HGNC	E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN	.	UPI0001CE06A3	SNV	FGFR1,synonymous_variant,p.%3D,ENST00000397103,;FGFR1,synonymous_variant,p.%3D,ENST00000341462,;FGFR1,intron_variant,,ENST00000326324,;FGFR1,intron_variant,,ENST00000447712,;FGFR1,intron_variant,,ENST00000356207,;FGFR1,intron_variant,,ENST00000397113,;FGFR1,intron_variant,,ENST00000335922,;FGFR1,intron_variant,,ENST00000397091,;FGFR1,intron_variant,,ENST00000532791,;FGFR1,intron_variant,,ENST00000425967,;FGFR1,intron_variant,,ENST00000397108,;FGFR1,downstream_gene_variant,,ENST00000526742,;FGFR1,downstream_gene_variant,,ENST00000525001,;FGFR1,downstream_gene_variant,,ENST00000530568,;FGFR1,downstream_gene_variant,,ENST00000533668,;FGFR1,downstream_gene_variant,,ENST00000529552,;RP11-350N15.4,intron_variant,,ENST00000528407,;FGFR1,intron_variant,,ENST00000530701,;FGFR1,downstream_gene_variant,,ENST00000527203,;FGFR1,non_coding_transcript_exon_variant,,ENST00000464163,;FGFR1,intron_variant,,ENST00000487647,;FGFR1,intron_variant,,ENST00000526570,;FGFR1,intron_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,upstream_gene_variant,,ENST00000466021,;FGFR1,upstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000474970,;FGFR1,downstream_gene_variant,,ENST00000532386,;FGFR1,upstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000496296,;FGFR1,downstream_gene_variant,,ENST00000484370,;FGFR1,upstream_gene_variant,,ENST00000524528,;	.	80	107	SUCCESS
COL15A1	1306	.	GRCh37	9	101748304	101748304	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	63	0	ENST00000375001.3:c.558C>A	p.Pro186=	p.P186=	ENST00000375001	NM_001855.4	186	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS35081.1	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCTTCCA	NONE	.	.	Pfam_domain:PF13385,SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000364140	.	3/42	.	.	.	.	.	.	.	.	.	3/42	PASS	ENST00000375001	Transcript	.	.	ENSG00000204291	2192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COFA1_HUMAN	COL15A1	HGNC	.	.	UPI0000211506	SNV	COL15A1,synonymous_variant,p.%3D,ENST00000375001,;COL15A1,non_coding_transcript_exon_variant,,ENST00000471477,;	981	63	52	SUCCESS
TMEM246	0	.	GRCh37	9	104238798	104238798	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	88	0	ENST00000374851.1:c.577T>G	p.Tyr193Asp	p.Y193D	ENST00000374851		193	Tat/Gat	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS6757.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATAGACAT	NONE	.	.	hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1	.	.	ENSP00000363984	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000374851	Transcript	.	.	ENSG00000165152	28180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious(0)	.	TM246_HUMAN	TMEM246	HGNC	.	.	UPI000006D08E	SNV	TMEM246,missense_variant,p.Tyr193Asp,ENST00000374851,;TMEM246,missense_variant,p.Tyr193Asp,ENST00000374847,;TMEM246,missense_variant,p.Tyr193Asp,ENST00000374848,;RP11-490D19.6,intron_variant,,ENST00000425734,;RP11-490D19.6,intron_variant,,ENST00000431507,;RP11-490D19.6,intron_variant,,ENST00000450109,;RP11-490D19.6,intron_variant,,ENST00000424154,;	1725	88	76	SUCCESS
LRCH2	57631	.	GRCh37	X	114468471	114468471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	37	132	0	ENST00000317135.8:c.134C>A	p.Thr45Asn	p.T45N	ENST00000317135	NM_020871.3	45	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS48155.1	134	RADIA|SOMATICSNIPER|VARSCANS	.	CCAGGGTCCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000325091	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000317135	Transcript	.	.	ENSG00000130224	29292	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	tolerated_low_confidence(0.19)	.	LRCH2_HUMAN	LRCH2	HGNC	.	.	UPI000022DB30	SNV	LRCH2,missense_variant,p.Thr45Asn,ENST00000538422,;LRCH2,missense_variant,p.Thr45Asn,ENST00000317135,;	165	132	124	SUCCESS
GRIA3	2892	.	GRCh37	X	122598767	122598767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	98	294	0	ENST00000264357.5:c.2128G>A	p.Glu710Lys	p.E710K	ENST00000264357	NM_000828.4	710	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS14604.1	2128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGGAGCCA	NONE	.	.	Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	.	.	ENSP00000264357	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	tolerated(0.24)	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,missense_variant,p.Glu710Lys,ENST00000371256,;GRIA3,missense_variant,p.Glu710Lys,ENST00000542149,;GRIA3,missense_variant,p.Glu710Lys,ENST00000264357,;GRIA3,missense_variant,p.Glu710Lys,ENST00000371251,;AL356213.1,upstream_gene_variant,,ENST00000577653,;	2420	294	219	SUCCESS
GPR50	9248	.	GRCh37	X	150348392	150348392	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	85	205	0	ENST00000218316.3:c.337G>T	p.Val113Phe	p.V113F	ENST00000218316	NM_004224.3	113	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS44012.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGGTCGGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF51,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000218316	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218316	Transcript	.	.	ENSG00000102195	4506	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.394)	.	deleterious(0.02)	.	MTR1L_HUMAN	GPR50	HGNC	.	.	UPI000013C755	SNV	GPR50,missense_variant,p.Val113Phe,ENST00000218316,;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	406	205	174	SUCCESS
CALHM3	119395	.	GRCh37	10	105236257	105236257	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	37	129	0	ENST00000369783.4:c.337T>A	p.Trp113Arg	p.W113R	ENST00000369783	NM_001129742.1	113	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS44476.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCAGACCA	NONE	.	.	hmmpanther:PTHR32261:SF7,hmmpanther:PTHR32261,Pfam_domain:PF14798	.	.	ENSP00000358798	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000369783	Transcript	.	.	ENSG00000183128	23458	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CAHM3_HUMAN	CALHM3	HGNC	.	.	UPI00001BE8E6	SNV	CALHM3,missense_variant,p.Trp113Arg,ENST00000369783,;RP11-225H22.5,downstream_gene_variant,,ENST00000453753,;	545	129	52	SUCCESS
TDRD1	56165	.	GRCh37	10	115947807	115947807	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs540561593	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	78	169	0	ENST00000251864.2:c.217A>T	p.Thr73Ser	p.T73S	ENST00000251864	NM_198795.1	73	Acc/Tcc	0	.	G:0.0008	.	G:0	.	T	T/S	protein_coding	YES	CCDS7588.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAACCAAA	NONE	by1000G	.	hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4	G:0	.	ENSP00000251864	G:0	2/26	.	.	.	.	.	.	.	.	rs540561593	2/26	PASS	ENST00000251864	Transcript	.	G:0.0002	ENSG00000095627	11712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	G:0	tolerated(0.17)	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	SNV	TDRD1,missense_variant,p.Thr73Ser,ENST00000369282,;TDRD1,missense_variant,p.Thr73Ser,ENST00000369281,;TDRD1,missense_variant,p.Thr73Ser,ENST00000251864,;TDRD1,missense_variant,p.Thr73Ser,ENST00000369280,;TDRD1,5_prime_UTR_variant,,ENST00000422662,;	370	170	92	SUCCESS
DMBT1	1755	.	GRCh37	10	124402796	124402796	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	47	134	0	ENST00000338354.3:c.7124A>G	p.Tyr2375Cys	p.Y2375C	ENST00000338354		2375	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS44490.1	7124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTACCGAG	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,PROSITE_profiles:PS51034	.	.	ENSP00000357905	.	53/53	.	.	.	.	.	.	.	.	.	53/53	PASS	ENST00000368909	Transcript	1	.	ENSG00000187908	2926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.777)	.	tolerated(0.12)	.	DMBT1_HUMAN	DMBT1	HGNC	B6V682_HUMAN	.	UPI000047021C	SNV	DMBT1,missense_variant,p.Tyr1747Cys,ENST00000368956,;DMBT1,missense_variant,p.Tyr1095Cys,ENST00000359586,;DMBT1,missense_variant,p.Tyr1747Cys,ENST00000330163,;DMBT1,missense_variant,p.Tyr2365Cys,ENST00000344338,;DMBT1,missense_variant,p.Tyr2365Cys,ENST00000368955,;DMBT1,missense_variant,p.Tyr2375Cys,ENST00000368909,;DMBT1,missense_variant,p.Tyr2375Cys,ENST00000338354,;	7230	134	63	SUCCESS
FANK1	92565	.	GRCh37	10	127697845	127697845	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	25	78	0	ENST00000368693.1:c.972+10C>A		p.*324*	ENST00000368693				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCTCTTT	NONE	.	.	.	.	.	ENSP00000357682	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368693	Transcript	.	.	ENSG00000203780	23527	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANK1_HUMAN	FANK1	HGNC	C9JD80_HUMAN,A6NH44_HUMAN	.	UPI000046FFD6	SNV	FANK1,intron_variant,,ENST00000368695,;FANK1,intron_variant,,ENST00000456942,;FANK1,intron_variant,,ENST00000368693,;FANK1,intron_variant,,ENST00000368691,;ADAM12,downstream_gene_variant,,ENST00000368679,;FANK1,non_coding_transcript_exon_variant,,ENST00000492670,;FANK1,non_coding_transcript_exon_variant,,ENST00000477963,;FANK1,non_coding_transcript_exon_variant,,ENST00000464130,;	.	78	34	SUCCESS
PTPRE	5791	.	GRCh37	10	129869164	129869164	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs143511195	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	21	59	0	ENST00000254667.3:c.1386G>T		p.X462_splice	ENST00000254667	NM_006504.4	462	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7657.1	1386	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCGTGTAA	NONE	byCluster	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF49,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,SMART_domains:SM00194,Superfamily_domains:SSF52799	.	.	ENSP00000254667	.	15/21	.	.	.	.	.	.	.	.	rs143511195	15/21	PASS	ENST00000254667	Transcript	.	.	ENSG00000132334	9669	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTPRE_HUMAN	PTPRE	HGNC	Q96P81_HUMAN,Q69YS2_HUMAN,Q5VWH6_HUMAN,Q5VWH5_HUMAN	.	UPI0000132991	SNV	PTPRE,synonymous_variant,p.%3D,ENST00000419012,;PTPRE,synonymous_variant,p.%3D,ENST00000306042,;PTPRE,synonymous_variant,p.%3D,ENST00000254667,;PTPRE,downstream_gene_variant,,ENST00000430713,;PTPRE,synonymous_variant,p.%3D,ENST00000479896,;PTPRE,non_coding_transcript_exon_variant,,ENST00000463727,;PTPRE,downstream_gene_variant,,ENST00000492479,;PTPRE,downstream_gene_variant,,ENST00000495530,;	1665	59	30	SUCCESS
MCM10	55388	.	GRCh37	10	13217598	13217598	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs138161730	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	59	138	0	ENST00000484800.2:c.684A>T	p.Arg228Ser	p.R228S	ENST00000484800		228	agA/agT	0	.	G:0.0015	.	G:0	.	T	R/S	protein_coding	YES	CCDS7096.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAGAGGTCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13454	G:0	.	ENSP00000418268	G:0	6/20	.	.	.	.	.	.	.	.	rs138161730	6/20	PASS	ENST00000484800	Transcript	.	G:0.0004	ENSG00000065328	18043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	G:0	tolerated(0.32)	.	MCM10_HUMAN	MCM10	HGNC	C9J600_HUMAN	.	UPI000013C5E2	SNV	MCM10,missense_variant,p.Arg228Ser,ENST00000484800,;MCM10,missense_variant,p.Arg227Ser,ENST00000378714,;MCM10,missense_variant,p.Arg227Ser,ENST00000378694,;MCM10,downstream_gene_variant,,ENST00000479669,;	787	138	125	SUCCESS
TTC40	0	.	GRCh37	10	134712524	134712524	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	33	126	0	ENST00000368586.5:c.3158A>T	p.Lys1053Met	p.K1053M	ENST00000368586	NM_001200049.2	1053	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS58101.1	3158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTTCTTC	NONE	.	.	hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977	.	.	ENSP00000357575	.	24/58	.	.	.	.	.	.	.	.	.	24/58	PASS	ENST00000368586	Transcript	.	.	ENSG00000171811	25247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	tolerated(0.06)	.	TTC40_HUMAN	TTC40	HGNC	.	.	UPI0001B79116	SNV	TTC40,missense_variant,p.Lys1053Met,ENST00000368582,;TTC40,missense_variant,p.Lys1053Met,ENST00000368586,;TTC40,non_coding_transcript_exon_variant,,ENST00000486104,;	3259	126	67	SUCCESS
KNDC1	85442	.	GRCh37	10	135013094	135013094	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	21	62	0	ENST00000304613.3:c.2891C>G	p.Ser964Ter	p.S964*	ENST00000304613		964	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS7674.1	2891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGTCACCCT	NONE	.	.	hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	.	.	ENSP00000304437	.	15/30	.	.	.	.	.	.	.	.	.	15/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,stop_gained,p.Ser899Ter,ENST00000368571,;KNDC1,stop_gained,p.Ser964Ter,ENST00000304613,;KNDC1,stop_gained,p.Ser966Ter,ENST00000368572,;	2912	62	26	SUCCESS
FAM107B	83641	.	GRCh37	10	14563994	14563994	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	70	0	ENST00000378458.2:c.153A>T	p.Pro51=	p.P51=	ENST00000378458		51	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7102.1	678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGGTTT	NONE	.	.	hmmpanther:PTHR16768:SF1,hmmpanther:PTHR16768,Pfam_domain:PF06625	.	.	ENSP00000181796	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000181796	Transcript	.	.	ENSG00000065809	23726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F107B_HUMAN	FAM107B	HGNC	C9JYP1_HUMAN,C9JW51_HUMAN,C9JQ40_HUMAN,C9JP05_HUMAN,C9J6Y8_HUMAN,C9J6N5_HUMAN,C9J3Q3_HUMAN	.	UPI00001C0E1E	SNV	FAM107B,synonymous_variant,p.%3D,ENST00000482277,;FAM107B,synonymous_variant,p.%3D,ENST00000488576,;FAM107B,synonymous_variant,p.%3D,ENST00000378465,;FAM107B,synonymous_variant,p.%3D,ENST00000468747,;FAM107B,synonymous_variant,p.%3D,ENST00000489100,;FAM107B,synonymous_variant,p.%3D,ENST00000378470,;FAM107B,synonymous_variant,p.%3D,ENST00000478076,;FAM107B,synonymous_variant,p.%3D,ENST00000442012,;FAM107B,synonymous_variant,p.%3D,ENST00000479731,;FAM107B,synonymous_variant,p.%3D,ENST00000468492,;FAM107B,synonymous_variant,p.%3D,ENST00000496330,;FAM107B,synonymous_variant,p.%3D,ENST00000181796,;FAM107B,synonymous_variant,p.%3D,ENST00000378458,;FAM107B,synonymous_variant,p.%3D,ENST00000494865,;FAM107B,synonymous_variant,p.%3D,ENST00000472095,;FAM107B,synonymous_variant,p.%3D,ENST00000378462,;FAM107B,synonymous_variant,p.%3D,ENST00000378467,;FAM107B,synonymous_variant,p.%3D,ENST00000452706,;FAM107B,synonymous_variant,p.%3D,ENST00000475786,;FAM107B,3_prime_UTR_variant,,ENST00000481209,;FAM107B,3_prime_UTR_variant,,ENST00000487335,;FAM107B,non_coding_transcript_exon_variant,,ENST00000474143,;FAM107B,non_coding_transcript_exon_variant,,ENST00000475858,;FAM107B,non_coding_transcript_exon_variant,,ENST00000492700,;	912	70	55	SUCCESS
OLAH	55301	.	GRCh37	10	15089132	15089132	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	19	0	ENST00000378228.3:c.-156A>T		p.*52*	ENST00000378228	NM_001039702.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7106.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGAGAGGT	NONE	.	.	.	.	.	ENSP00000367462	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000378217	Transcript	.	.	ENSG00000152463	25625	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAST_HUMAN	OLAH	HGNC	Q5VUC1_HUMAN	.	UPI000007139E	SNV	OLAH,5_prime_UTR_variant,,ENST00000413672,;OLAH,5_prime_UTR_variant,,ENST00000378217,;OLAH,5_prime_UTR_variant,,ENST00000378225,;OLAH,5_prime_UTR_variant,,ENST00000378228,;OLAH,5_prime_UTR_variant,,ENST00000428897,;OLAH,5_prime_UTR_variant,,ENST00000429028,;OLAH,upstream_gene_variant,,ENST00000493912,;DCLRE1CP1,intron_variant,,ENST00000378211,;	32	19	16	SUCCESS
CUBN	8029	.	GRCh37	10	17151661	17151661	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	62	0	ENST00000377833.4:c.1089T>A	p.Asp363Glu	p.D363E	ENST00000377833	NM_001081.3	363	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS7113.1	1089	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCATCTGG	NONE	.	.	PROSITE_profiles:PS50026,Gene3D:2.10.25.10,Pfam_domain:PF12947,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000367064	.	10/67	.	.	.	.	.	.	.	.	COSM465509	10/67	PASS	ENST00000377833	Transcript	1	.	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.006)	.	tolerated(1)	1	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Asp363Glu,ENST00000377833,;	1155	62	68	SUCCESS
SLC39A12	221074	.	GRCh37	10	18250689	18250689	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	57	127	0	ENST00000377369.2:c.441A>C	p.Leu147=	p.L147=	ENST00000377369	NM_001145195.1	147	ctA/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS44362.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTACTGAG	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,synonymous_variant,p.%3D,ENST00000377369,;SLC39A12,synonymous_variant,p.%3D,ENST00000539911,;SLC39A12,synonymous_variant,p.%3D,ENST00000377371,;SLC39A12,synonymous_variant,p.%3D,ENST00000377374,;	714	127	124	SUCCESS
GPR158	57512	.	GRCh37	10	25887814	25887814	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769485517	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	85	0	ENST00000376351.3:c.3259C>A	p.Leu1087Ile	p.L1087I	ENST00000376351	NM_020752.2	1087	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS31166.1	3259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGCTTTTG	NONE	byFrequency	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	rs769485517	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.33)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Leu1087Ile,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	3618	85	69	SUCCESS
MYO3A	53904	.	GRCh37	10	26463109	26463109	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	81	168	0	ENST00000265944.5:c.3916A>G	p.Lys1306Glu	p.K1306E	ENST00000265944	NM_017433.4	1306	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7148.1	3916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAAGACA	NONE	.	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.15)	.	tolerated_low_confidence(0.17)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Lys1306Glu,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	4082	168	169	SUCCESS
DIP2C	22982	.	GRCh37	10	395294	395294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	25	0	ENST00000280886.6:c.3086A>T	p.His1029Leu	p.H1029L	ENST00000280886	NM_014974.2	1029	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS7054.1	3086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGTGGTCG	NONE	.	.	hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000280886	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000280886	Transcript	.	.	ENSG00000151240	29150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	DIP2C_HUMAN	DIP2C	HGNC	.	.	UPI00001833B9	SNV	DIP2C,missense_variant,p.His1029Leu,ENST00000280886,;	3174	25	29	SUCCESS
ZNF37BP	100129482	.	GRCh37	10	43015106	43015106	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	16	0	ENST00000452075.3:n.2489A>G		p.*830*	ENST00000452075				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TTCTCTCACCC	NONE	.	.	.	.	.	.	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000452075	Transcript	.	.	ENSG00000234420	13103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF37BP	HGNC	.	.	.	SNV	ZNF37BP,non_coding_transcript_exon_variant,,ENST00000452075,;ZNF37BP,downstream_gene_variant,,ENST00000473592,;ZNF37BP,downstream_gene_variant,,ENST00000435805,;ZNF37BP,downstream_gene_variant,,ENST00000452306,;	2489	16	16	SUCCESS
ZNF33B	7582	.	GRCh37	10	43089253	43089253	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	79	0	ENST00000359467.3:c.1145A>T	p.Glu382Val	p.E382V	ENST00000359467	NM_006955.1	382	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7198.1	1145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTCCCCT	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,PROSITE_profiles:PS50157	.	.	ENSP00000352444	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359467	Transcript	.	.	ENSG00000196693	13097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN33B_HUMAN	ZNF33B	HGNC	.	.	UPI000007257B	SNV	ZNF33B,missense_variant,p.Glu382Val,ENST00000359467,;ZNF33B,intron_variant,,ENST00000486187,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;	1260	79	59	SUCCESS
FXYD4	53828	.	GRCh37	10	43870979	43870979	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	81	0	ENST00000476166.1:c.130T>G	p.Cys44Gly	p.C44G	ENST00000476166	NM_173160.2	44	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS7203.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCTGCGGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14132:SF10,hmmpanther:PTHR14132,Gene3D:1.20.5.780,Pfam_domain:PF02038	.	.	ENSP00000473361	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000476166	Transcript	.	.	ENSG00000150201	4028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0.01)	.	FXYD4_HUMAN	FXYD4	HGNC	.	.	UPI0000160F0C	SNV	FXYD4,missense_variant,p.Cys44Gly,ENST00000476166,;FXYD4,non_coding_transcript_exon_variant,,ENST00000480834,;FXYD4,intron_variant,,ENST00000479189,;	464	81	76	SUCCESS
RASSF4	83937	.	GRCh37	10	45484737	45484737	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	65	0	ENST00000340258.5:c.547C>G	p.Pro183Ala	p.P183A	ENST00000340258	NM_032023.3	183	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS7208.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCCAGCC	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF4,Pfam_domain:PF00788,SMART_domains:SM00314	.	.	ENSP00000339692	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000340258	Transcript	.	.	ENSG00000107551	20793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RASF4_HUMAN	RASSF4	HGNC	.	.	UPI000006F93A	SNV	RASSF4,missense_variant,p.Pro192Ala,ENST00000334940,;RASSF4,missense_variant,p.Pro183Ala,ENST00000340258,;RASSF4,3_prime_UTR_variant,,ENST00000374417,;RASSF4,upstream_gene_variant,,ENST00000484477,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471808,;RASSF4,non_coding_transcript_exon_variant,,ENST00000472561,;RASSF4,3_prime_UTR_variant,,ENST00000483709,;RASSF4,non_coding_transcript_exon_variant,,ENST00000465735,;RASSF4,non_coding_transcript_exon_variant,,ENST00000471941,;RASSF4,non_coding_transcript_exon_variant,,ENST00000489171,;RASSF4,upstream_gene_variant,,ENST00000493490,;	660	65	51	SUCCESS
ZFAND4	93550	.	GRCh37	10	46135397	46135397	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	53	0	ENST00000344646.5:c.584A>G	p.Tyr195Cys	p.Y195C	ENST00000344646	NM_174890.2	195	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7214.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATACATA	NONE	.	.	hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666	.	.	ENSP00000339484	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000344646	Transcript	.	.	ENSG00000172671	23504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	ZFAN4_HUMAN	ZFAND4	HGNC	Q5VVY6_HUMAN,J3KPC0_HUMAN	.	UPI0000161363	SNV	ZFAND4,missense_variant,p.Tyr195Cys,ENST00000344646,;ZFAND4,missense_variant,p.Tyr121Cys,ENST00000374366,;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;ZFAND4,3_prime_UTR_variant,,ENST00000465407,;	800	53	49	SUCCESS
NPY4R	5540	.	GRCh37	10	47087208	47087208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	22	104	0	ENST00000374312.1:c.425T>C	p.Leu142Pro	p.L142P	ENST00000374312	NM_005972.5	142	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS31193.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTCATCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF185,hmmpanther:PTHR24242,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000363431	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374312	Transcript	.	.	ENSG00000204174	9329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NPY4R_HUMAN	NPY4R	HGNC	.	.	UPI0000050415	SNV	NPY4R,missense_variant,p.Leu142Pro,ENST00000395716,;NPY4R,missense_variant,p.Leu142Pro,ENST00000374312,;LINC00842,intron_variant,,ENST00000503031,;	844	104	118	SUCCESS
ZNF488	118738	.	GRCh37	10	48370707	48370707	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	33	0	ENST00000395702.2:c.175G>C	p.Glu59Gln	p.E59Q	ENST00000395702		59	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS7217.1	175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGAGGCT	NONE	.	.	hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF1	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	COSM3867254	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.473)	.	tolerated(0.22)	1	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	SNV	ZNF488,missense_variant,p.Glu59Gln,ENST00000444585,;ZNF488,missense_variant,p.Glu59Gln,ENST00000395702,;ZNF488,missense_variant,p.Glu59Gln,ENST00000442001,;ZNF488,missense_variant,p.Glu59Gln,ENST00000433077,;ZNF488,missense_variant,p.Glu59Gln,ENST00000436850,;ZNF488,missense_variant,p.Glu59Gln,ENST00000494156,;ZNF488,missense_variant,p.Glu59Gln,ENST00000412534,;ZNF488,missense_variant,p.Glu59Gln,ENST00000425196,;ZNF488,5_prime_UTR_variant,,ENST00000586537,;	402	33	23	SUCCESS
GDF2	2658	.	GRCh37	10	48416370	48416370	+	synonymous_variant	Silent	SNP	A	A	G	rs1372755326	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	55	0	ENST00000249598.1:c.324T>C	p.Ile108=	p.I108=	ENST00000249598	NM_016204.1	108	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS7219.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACAATGTT	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Pfam_domain:PF00688	.	.	ENSP00000249598	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,synonymous_variant,p.%3D,ENST00000249598,;	484	56	46	SUCCESS
FRMPD2	143162	.	GRCh37	10	49459781	49459781	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	56	0	ENST00000374201.3:c.26-47T>C		p.*9*	ENST00000374201	NM_001018071.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31195.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAACATGT	NONE	.	.	.	.	.	ENSP00000363317	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374201	Transcript	.	.	ENSG00000170324	28572	.	.	MODIFIER	1/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRPD2_HUMAN	FRMPD2	HGNC	.	.	UPI0000D60F5F	SNV	FRMPD2,5_prime_UTR_variant,,ENST00000305531,;FRMPD2,intron_variant,,ENST00000374201,;FRMPD2,intron_variant,,ENST00000407470,;FRMPD2,intron_variant,,ENST00000486151,;FRMPD2,upstream_gene_variant,,ENST00000468556,;FRMPD2,upstream_gene_variant,,ENST00000492045,;	.	56	40	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49687696	49687696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	51	108	0	ENST00000249601.4:c.434G>T	p.Trp145Leu	p.W145L	ENST00000249601	NM_021226.3	145	tGg/tTg	0	.	.	.	.	.	A	W/L	protein_coding	YES	CCDS58080.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCAGATG	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521,PROSITE_profiles:PS50003	.	.	ENSP00000412461	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.01)	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Trp151Leu,ENST00000435790,;ARHGAP22,missense_variant,p.Trp55Leu,ENST00000374170,;ARHGAP22,missense_variant,p.Trp145Leu,ENST00000249601,;ARHGAP22,missense_variant,p.Trp20Leu,ENST00000374172,;ARHGAP22,missense_variant,p.Trp145Leu,ENST00000417912,;ARHGAP22,missense_variant,p.Trp55Leu,ENST00000417247,;ARHGAP22,intron_variant,,ENST00000471013,;ARHGAP22,upstream_gene_variant,,ENST00000515523,;ARHGAP22,missense_variant,p.Trp151Leu,ENST00000460425,;	590	108	107	SUCCESS
WDFY4	57705	.	GRCh37	10	50154931	50154931	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	36	101	0	ENST00000325239.5:c.7894T>A	p.Tyr2632Asn	p.Y2632N	ENST00000325239	NM_020945.1	2632	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS44385.1	7894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACTACACC	NONE	.	.	PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	.	.	ENSP00000320563	.	50/61	.	.	.	.	.	.	.	.	.	50/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.26)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Tyr2632Asn,ENST00000325239,;WDFY4,missense_variant,p.Tyr719Asn,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;	7921	101	81	SUCCESS
WDFY4	57705	.	GRCh37	10	50174650	50174650	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	83	0	ENST00000325239.5:c.8516T>A	p.Leu2839Gln	p.L2839Q	ENST00000325239	NM_020945.1	2839	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS44385.1	8516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTGCCTG	NONE	.	.	hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743	.	.	ENSP00000320563	.	54/61	.	.	.	.	.	.	.	.	.	54/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.31)	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,missense_variant,p.Leu2839Gln,ENST00000325239,;WDFY4,missense_variant,p.Leu926Gln,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;WDFY4,upstream_gene_variant,,ENST00000497480,;	8543	83	56	SUCCESS
C10orf71	118461	.	GRCh37	10	50530956	50530956	+	synonymous_variant	Silent	SNP	C	C	T	rs1261709372	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	57	118	0	ENST00000374144.3:c.366C>T	p.Val122=	p.V122=	ENST00000374144		122	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS44387.1	366	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCCAGAG	NONE	.	.	.	.	.	ENSP00000363259	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374144	Transcript	.	.	ENSG00000177354	26973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ071_HUMAN	C10orf71	HGNC	.	.	UPI0000161572	SNV	C10orf71,synonymous_variant,p.%3D,ENST00000374144,;C10orf71,synonymous_variant,p.%3D,ENST00000323868,;	654	118	117	SUCCESS
C10orf71	118461	.	GRCh37	10	50532101	50532101	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	81	0	ENST00000374144.3:c.1511A>T	p.Lys504Met	p.K504M	ENST00000374144		504	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS44387.1	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAAGGACG	NONE	.	.	.	.	.	ENSP00000363259	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374144	Transcript	.	.	ENSG00000177354	26973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CJ071_HUMAN	C10orf71	HGNC	.	.	UPI0000161572	SNV	C10orf71,missense_variant,p.Lys504Met,ENST00000374144,;C10orf71,missense_variant,p.Lys504Met,ENST00000323868,;	1799	81	57	SUCCESS
PGBD3	267004	.	GRCh37	10	50724703	50724703	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	32	115	0	ENST00000374127.3:c.458A>T	p.Glu153Val	p.E153V	ENST00000374127	NM_170753.3	153	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS60529.1	1862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTCGTCA	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000423550	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000515869	Transcript	.	.	ENSG00000258838	48347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.05)	.	.	ERCC6-PGBD3	HGNC	E7EV46_HUMAN,D6R9X7_HUMAN	.	UPI00001F98BA	SNV	ERCC6-PGBD3,missense_variant,p.Glu621Val,ENST00000515869,;PGBD3,missense_variant,p.Glu153Val,ENST00000508005,;PGBD3,missense_variant,p.Glu153Val,ENST00000374127,;ERCC6-PGBD3,missense_variant,p.Glu621Val,ENST00000447839,;PGBD3,missense_variant,p.Glu621Val,ENST00000603152,;ERCC6,intron_variant,,ENST00000355832,;	1983	115	68	SUCCESS
AGAP7	0	.	GRCh37	10	51465326	51465326	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782570184	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	31	87	0	ENST00000374095.5:c.1130A>G	p.Lys377Arg	p.K377R	ENST00000374095	NM_001077685.2	377	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS41524.1	1130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTTTTTA	NONE	byFrequency	.	SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR23180,Pfam_domain:PF00169,hmmpanther:PTHR23180:SF213,PROSITE_profiles:PS50003,Low_complexity_(Seg):seg	.	.	ENSP00000363208	.	7/7	.	.	.	.	.	.	.	.	rs782570184,COSM3985635	7/7	PASS	ENST00000374095	Transcript	.	.	ENSG00000204169	23465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.771)	.	tolerated(0.14)	0,1	AGAP7_HUMAN	AGAP7	HGNC	.	.	UPI000016167D	SNV	AGAP7,missense_variant,p.Lys377Arg,ENST00000374095,;	1256	87	58	SUCCESS
NCOA4	8031	.	GRCh37	10	51585413	51585413	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	38	67	0	ENST00000452682.1:c.1560A>G	p.Lys520=	p.K520=	ENST00000452682	NM_001145260.1	520	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS44394.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAAGAAGG	NONE	.	.	hmmpanther:PTHR17085,hmmpanther:PTHR17085:SF2	.	.	ENSP00000395465	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000452682	Transcript	1	.	ENSG00000138293	7671	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCOA4_HUMAN	NCOA4	HGNC	.	.	UPI0001932817	SNV	NCOA4,synonymous_variant,p.%3D,ENST00000374082,;NCOA4,synonymous_variant,p.%3D,ENST00000430396,;NCOA4,synonymous_variant,p.%3D,ENST00000452682,;NCOA4,synonymous_variant,p.%3D,ENST00000414907,;NCOA4,synonymous_variant,p.%3D,ENST00000344348,;NCOA4,synonymous_variant,p.%3D,ENST00000443446,;NCOA4,synonymous_variant,p.%3D,ENST00000374087,;NCOA4,synonymous_variant,p.%3D,ENST00000438493,;NCOA4,downstream_gene_variant,,ENST00000431200,;NCOA4,downstream_gene_variant,,ENST00000498586,;	1812	67	78	SUCCESS
ASAH2	56624	.	GRCh37	10	52005188	52005188	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	99	0	ENST00000395526.4:c.154A>T	p.Thr52Ser	p.T52S	ENST00000395526	NM_019893.2	52	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS7239.2	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGTGGTTG	NONE	.	.	.	.	.	ENSP00000378897	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000395526	Transcript	.	.	ENSG00000188611	18860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.24)	.	ASAH2_HUMAN	ASAH2	HGNC	.	.	UPI00004042A7	SNV	ASAH2,missense_variant,p.Thr33Ser,ENST00000329428,;ASAH2,missense_variant,p.Thr52Ser,ENST00000447815,;ASAH2,missense_variant,p.Thr52Ser,ENST00000395526,;ASAH2,upstream_gene_variant,,ENST00000443575,;	154	99	77	SUCCESS
A1CF	29974	.	GRCh37	10	52603787	52603787	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	50	168	0	ENST00000373993.1:c.195A>T	p.Arg65=	p.R65=	ENST00000373993		65	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS7243.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCTCGGGG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000363107	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000373995	Transcript	.	.	ENSG00000148584	24086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A1CF_HUMAN	A1CF	HGNC	.	.	UPI000013DB32	SNV	A1CF,synonymous_variant,p.%3D,ENST00000414883,;A1CF,synonymous_variant,p.%3D,ENST00000373993,;A1CF,synonymous_variant,p.%3D,ENST00000282641,;A1CF,synonymous_variant,p.%3D,ENST00000395495,;A1CF,synonymous_variant,p.%3D,ENST00000374001,;A1CF,synonymous_variant,p.%3D,ENST00000373995,;A1CF,synonymous_variant,p.%3D,ENST00000373997,;A1CF,synonymous_variant,p.%3D,ENST00000395489,;A1CF,non_coding_transcript_exon_variant,,ENST00000473480,;	478	168	121	SUCCESS
PRKG1	5592	.	GRCh37	10	53564432	53564432	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	59	0	ENST00000373985.1:c.599A>G	p.Tyr200Cys	p.Y200C	ENST00000373985	NM_001098512.2	200	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS7244.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTATATGG	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Gene3D:2.60.120.10,SMART_domains:SM00100,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF51206	.	.	ENSP00000363092	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious(0.02)	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.Tyr85Cys,ENST00000373976,;PRKG1,missense_variant,p.Tyr212Cys,ENST00000401604,;PRKG1,missense_variant,p.Tyr200Cys,ENST00000373985,;PRKG1,missense_variant,p.Tyr227Cys,ENST00000373980,;	1097	59	34	SUCCESS
MBL2	4153	.	GRCh37	10	54531407	54531407	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	39	100	0	ENST00000373968.3:c.-12A>G		p.*4*	ENST00000373968	NM_000242.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7247.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTGGTGT	NONE	.	.	.	.	.	ENSP00000363079	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000373968	Transcript	1	.	ENSG00000165471	6922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBL2_HUMAN	MBL2	HGNC	Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN	.	UPI0000035011	SNV	MBL2,5_prime_UTR_variant,,ENST00000373968,;	54	100	66	SUCCESS
BICC1	80114	.	GRCh37	10	60553242	60553242	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	86	0	ENST00000373886.3:c.1048-2A>G		p.X350_splice	ENST00000373886	NM_001080512.1	350		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31206.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAGGGTT	NONE	.	.	.	.	.	ENSP00000362993	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373886	Transcript	1	.	ENSG00000122870	19351	.	.	HIGH	8/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BICC1_HUMAN	BICC1	HGNC	.	.	UPI000059D156	SNV	BICC1,splice_acceptor_variant,,ENST00000373886,;BICC1,upstream_gene_variant,,ENST00000263103,;	.	86	89	SUCCESS
ANK3	288	.	GRCh37	10	61829458	61829458	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	96	0	ENST00000280772.2:c.11181T>G	p.Ser3727=	p.S3727=	ENST00000280772	NM_020987.3	3727	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7258.1	11181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCAGAAAT	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,synonymous_variant,p.%3D,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	11373	96	61	SUCCESS
ANK3	288	.	GRCh37	10	61956318	61956318	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	38	0	ENST00000280772.2:c.1755A>C	p.Leu585=	p.L585=	ENST00000280772	NM_020987.3	585	ctA/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS7258.1	1755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTAGCAG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000280772	.	15/44	.	.	.	.	.	.	.	.	.	15/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,synonymous_variant,p.%3D,ENST00000373827,;ANK3,synonymous_variant,p.%3D,ENST00000280772,;ANK3,synonymous_variant,p.%3D,ENST00000503366,;	1947	38	40	SUCCESS
PFKFB3	5209	.	GRCh37	10	6255708	6255708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	43	0	ENST00000379775.4:c.199A>G	p.Lys67Glu	p.K67E	ENST00000379775	NM_004566.3	67	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7078.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAAAAGGT	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.300,Pfam_domain:PF01591,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	.	.	ENSP00000369100	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000379775	Transcript	.	.	ENSG00000170525	8874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	.	.	F263_HUMAN	PFKFB3	HGNC	Q9UBT0_HUMAN,Q5VX18_HUMAN	.	UPI0000001082	SNV	PFKFB3,missense_variant,p.Lys81Glu,ENST00000540253,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000379785,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000317350,;PFKFB3,missense_variant,p.Lys47Glu,ENST00000536985,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000379782,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000360521,;PFKFB3,missense_variant,p.Lys47Glu,ENST00000379789,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000379775,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000467491,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000477914,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000461744,;PFKFB3,missense_variant,p.Lys67Glu,ENST00000490474,;	529	43	51	SUCCESS
C10orf107	0	.	GRCh37	10	63441009	63441009	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763053665	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	48	0	ENST00000330194.2:c.9C>A	p.Phe3Leu	p.F3L	ENST00000330194	NM_173554.2	3	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS7262.1	9	RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCTCTAT	NONE	.	.	Pfam_domain:PF14769	.	.	ENSP00000328698	.	2/7	.	.	.	.	.	.	.	.	rs763053665	2/7	PASS	ENST00000330194	Transcript	.	.	ENSG00000183346	28678	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	CJ107_HUMAN	C10orf107	HGNC	.	.	UPI00000745BC	SNV	C10orf107,missense_variant,p.Phe3Leu,ENST00000330194,;C10orf107,intron_variant,,ENST00000389639,;RP11-63A2.2,downstream_gene_variant,,ENST00000608672,;	314	48	43	SUCCESS
ARID5B	84159	.	GRCh37	10	63760062	63760062	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	74	0	ENST00000279873.7:c.715A>G	p.Ser239Gly	p.S239G	ENST00000279873	NM_032199.2	239	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS31208.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGAGTATA	NONE	.	.	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22	.	.	ENSP00000279873	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.693)	.	deleterious(0.04)	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,missense_variant,p.Ser239Gly,ENST00000279873,;	1125	74	56	SUCCESS
ZNF365	22891	.	GRCh37	10	64415185	64415185	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	59	132	0	ENST00000410046.3:c.1130-971C>T		p.*377*	ENST00000410046	NM_199451.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7264.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCACCTTCC	NONE	.	.	.	.	.	ENSP00000387091	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,missense_variant,p.Thr62Ile,ENST00000395251,;ZNF365,intron_variant,,ENST00000395249,;ZNF365,intron_variant,,ENST00000410046,;AC067751.1,upstream_gene_variant,,ENST00000579246,;ZNF365,non_coding_transcript_exon_variant,,ENST00000461412,;ZNF365,intron_variant,,ENST00000344640,;ZNF365,intron_variant,,ENST00000373784,;	.	132	124	SUCCESS
ZNF365	22891	.	GRCh37	10	64425949	64425949	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	62	0	ENST00000410046.3:c.1281A>C	p.Gln427His	p.Q427H	ENST00000410046	NM_199451.2	427	caA/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS7264.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAAAATTG	NONE	.	.	.	.	.	ENSP00000387091	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	deleterious_low_confidence(0)	.	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,missense_variant,p.Gln33His,ENST00000395249,;ZNF365,missense_variant,p.Gln181His,ENST00000395251,;ZNF365,missense_variant,p.Gln427His,ENST00000410046,;ZNF365,3_prime_UTR_variant,,ENST00000373784,;ZNF365,intron_variant,,ENST00000344640,;	1561	62	42	SUCCESS
TET1	80312	.	GRCh37	10	70332525	70332525	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	36	75	0	ENST00000373644.4:c.430A>G	p.Ile144Val	p.I144V	ENST00000373644	NM_030625.2	144	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS7281.1	430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGATACTC	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2	.	.	ENSP00000362748	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Ile144Val,ENST00000373644,;	639	75	49	SUCCESS
DDX50	79009	.	GRCh37	10	70666604	70666604	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	76	218	0	ENST00000373585.3:c.225A>G	p.Glu75=	p.E75=	ENST00000373585	NM_024045.1	75	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS7283.1	225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAAGAAGG	NONE	.	.	hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031	.	.	ENSP00000362687	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,synonymous_variant,p.%3D,ENST00000373585,;RNU6-571P,downstream_gene_variant,,ENST00000384128,;DDX50,3_prime_UTR_variant,,ENST00000471475,;DDX50,3_prime_UTR_variant,,ENST00000483593,;	332	218	200	SUCCESS
DDX50	79009	.	GRCh37	10	70670895	70670895	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs757379819	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	99	183	0	ENST00000373585.3:c.532A>T	p.Ile178Leu	p.I178L	ENST00000373585	NM_024045.1	178	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS7283.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAATAGCT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487	.	.	ENSP00000362687	.	4/15	.	.	.	.	.	.	.	.	rs757379819	4/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	tolerated(0.11)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Ile178Leu,ENST00000373585,;RNU6-571P,downstream_gene_variant,,ENST00000384128,;DDX50,upstream_gene_variant,,ENST00000460470,;DDX50,3_prime_UTR_variant,,ENST00000471475,;DDX50,3_prime_UTR_variant,,ENST00000483593,;	639	183	181	SUCCESS
SUPV3L1	6832	.	GRCh37	10	70968759	70968759	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	49	0	ENST00000359655.4:c.2329A>T	p.Arg777Ter	p.R777*	ENST00000359655	NM_003171.3	777	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS7287.1	2329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGAGAAGA	NONE	.	.	hmmpanther:PTHR12131:SF1,hmmpanther:PTHR12131	.	.	ENSP00000352678	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000359655	Transcript	.	.	ENSG00000156502	11471	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUV3_HUMAN	SUPV3L1	HGNC	.	.	UPI000007428D	SNV	SUPV3L1,stop_gained,p.Arg777Ter,ENST00000359655,;SUPV3L1,non_coding_transcript_exon_variant,,ENST00000497254,;	2389	49	49	SUCCESS
SFMBT2	57713	.	GRCh37	10	7213990	7213990	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	11	0	ENST00000361972.4:c.2282T>C	p.Val761Ala	p.V761A	ENST00000361972	NM_001018039.1	761	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS31138.1	2282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGACGGCC	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62	.	.	ENSP00000355109	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.97)	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,missense_variant,p.Val761Ala,ENST00000361972,;SFMBT2,missense_variant,p.Val761Ala,ENST00000397167,;	2373	11	25	SUCCESS
CDH23	64072	.	GRCh37	10	73269837	73269837	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	55	0	ENST00000224721.6:c.146-2A>T		p.X49_splice	ENST00000224721	NM_022124.5	49		0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGGTTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428918	Transcript	.	.	ENSG00000223817	31433	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CDH23-AS1	HGNC	.	.	.	SNV	CDH23,splice_acceptor_variant,,ENST00000398809,;CDH23,splice_acceptor_variant,,ENST00000398842,;CDH23,splice_acceptor_variant,,ENST00000224721,;CDH23,splice_acceptor_variant,,ENST00000461841,;CDH23,splice_acceptor_variant,,ENST00000299366,;CDH23-AS1,intron_variant,,ENST00000428918,;	.	55	38	SUCCESS
SYNPO2L	79933	.	GRCh37	10	75407619	75407619	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	56	0	ENST00000394810.2:c.1791T>A	p.Pro597=	p.P597=	ENST00000394810	NM_001114133.1	597	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS44438.1	1791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24217:SF10,hmmpanther:PTHR24217	.	.	ENSP00000378289	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000394810	Transcript	.	.	ENSG00000166317	23532	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYP2L_HUMAN	SYNPO2L	HGNC	U3KQD0_HUMAN	.	UPI000042704D	SNV	SYNPO2L,synonymous_variant,p.%3D,ENST00000372873,;SYNPO2L,synonymous_variant,p.%3D,ENST00000394810,;	1941	56	54	SUCCESS
NDST2	8509	.	GRCh37	10	75567441	75567441	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	85	0	ENST00000299641.4:c.337A>G	p.Thr113Ala	p.T113A	ENST00000299641	NM_003635.3	113	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7335.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGTACTAT	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36,Pfam_domain:PF12062	.	.	ENSP00000310657	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000309979	Transcript	.	.	ENSG00000166507	7681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	tolerated(0.1)	.	NDST2_HUMAN	NDST2	HGNC	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN	.	UPI0000001C41	SNV	NDST2,missense_variant,p.Thr113Ala,ENST00000299641,;NDST2,missense_variant,p.Thr236Ala,ENST00000309979,;CAMK2G,downstream_gene_variant,,ENST00000322680,;CAMK2G,downstream_gene_variant,,ENST00000322635,;CAMK2G,downstream_gene_variant,,ENST00000394762,;CAMK2G,downstream_gene_variant,,ENST00000423381,;CAMK2G,downstream_gene_variant,,ENST00000351293,;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,downstream_gene_variant,,ENST00000465929,;NDST2,upstream_gene_variant,,ENST00000463410,;NDST2,downstream_gene_variant,,ENST00000398701,;RP11-574K11.31,missense_variant,p.Thr236Ala,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;	1263	85	50	SUCCESS
KAT6B	23522	.	GRCh37	10	76788413	76788413	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	36	49	0	ENST00000287239.4:c.3831A>T	p.Pro1277=	p.P1277=	ENST00000287239	NM_001256468.1	1277	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7345.1	3831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCAGAAAC	NONE	.	.	hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615	.	.	ENSP00000287239	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	SNV	KAT6B,synonymous_variant,p.%3D,ENST00000372714,;KAT6B,synonymous_variant,p.%3D,ENST00000372725,;KAT6B,synonymous_variant,p.%3D,ENST00000372724,;KAT6B,synonymous_variant,p.%3D,ENST00000287239,;KAT6B,synonymous_variant,p.%3D,ENST00000372711,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;RP11-77G23.5,upstream_gene_variant,,ENST00000436608,;KAT6B,downstream_gene_variant,,ENST00000490365,;	4320	49	58	SUCCESS
DLG5	9231	.	GRCh37	10	79601686	79601686	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	51	0	ENST00000372391.2:c.1390A>G	p.Thr464Ala	p.T464A	ENST00000372391	NM_004747.3	464	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7353.2	1390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGTGCTGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13865	.	.	ENSP00000361467	.	7/32	.	.	.	.	.	.	.	.	.	7/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.76)	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,missense_variant,p.Thr464Ala,ENST00000372388,;DLG5,missense_variant,p.Thr464Ala,ENST00000372391,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,intron_variant,,ENST00000475613,;	1396	51	39	SUCCESS
POLR3A	11128	.	GRCh37	10	79789224	79789224	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	29	0	ENST00000372371.3:c.-59G>T		p.*20*	ENST00000372371	NM_007055.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7354.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCCCCCA	NONE	.	.	.	.	.	ENSP00000361446	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000372371	Transcript	1	.	ENSG00000148606	30074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPC1_HUMAN	POLR3A	HGNC	Q8TCW4_HUMAN,Q8TCW3_HUMAN,Q8TCW2_HUMAN	.	UPI000007456A	SNV	POLR3A,5_prime_UTR_variant,,ENST00000372371,;RPS24,upstream_gene_variant,,ENST00000360830,;RPS24,upstream_gene_variant,,ENST00000372360,;RPS24,upstream_gene_variant,,ENST00000435275,;RPS24,upstream_gene_variant,,ENST00000440692,;RPS24,upstream_gene_variant,,ENST00000485708,;RPS24,upstream_gene_variant,,ENST00000482069,;RPS24,upstream_gene_variant,,ENST00000464716,;RPS24,upstream_gene_variant,,ENST00000475468,;RPS24,upstream_gene_variant,,ENST00000476545,;RPS24,upstream_gene_variant,,ENST00000466129,;RPS24,upstream_gene_variant,,ENST00000478655,;	80	29	30	SUCCESS
DYDC1	143241	.	GRCh37	10	82102044	82102044	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	76	0	ENST00000372202.1:c.323C>G	p.Ala108Gly	p.A108G	ENST00000372202	NM_001269053.1	108	gCt/gGt	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS7366.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAGCTCTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23356:SF4,hmmpanther:PTHR23356	.	.	ENSP00000361278	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000372204	Transcript	.	.	ENSG00000170788	23460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.25)	.	DYDC1_HUMAN	DYDC1	HGNC	.	.	UPI0000070606	SNV	DYDC1,missense_variant,p.Ala108Gly,ENST00000421924,;DYDC1,missense_variant,p.Ala108Gly,ENST00000372204,;DYDC1,missense_variant,p.Ala108Gly,ENST00000372202,;DYDC1,missense_variant,p.Ala108Gly,ENST00000454362,;DYDC2,upstream_gene_variant,,ENST00000372197,;DYDC2,upstream_gene_variant,,ENST00000372199,;DYDC2,upstream_gene_variant,,ENST00000372198,;	488	76	63	SUCCESS
LRIT1	26103	.	GRCh37	10	85991913	85991913	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	82	0	ENST00000372105.3:c.1642T>A	p.Cys548Ser	p.C548S	ENST00000372105	NM_015613.2	548	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS7373.1	1642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGACAA	NONE	.	.	hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367,Transmembrane_helices:TMhelix	.	.	ENSP00000361177	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372105	Transcript	.	.	ENSG00000148602	23404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	LRIT1_HUMAN	LRIT1	HGNC	.	.	UPI000006F66C	SNV	LRIT1,missense_variant,p.Cys548Ser,ENST00000372105,;	1664	82	90	SUCCESS
CCSER2	54462	.	GRCh37	10	86259681	86259681	+	synonymous_variant	Silent	SNP	G	G	A	rs1440068109	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	80	0	ENST00000224756.8:c.2376G>A	p.Gly792=	p.G792=	ENST00000224756	NM_018999.2	792	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31235.1	2376	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGATCCC	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF2	.	.	ENSP00000224756	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000224756	Transcript	.	.	ENSG00000107771	29197	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCSE2_HUMAN	CCSER2	HGNC	B4DFY4_HUMAN	.	UPI00005E1AE0	SNV	CCSER2,synonymous_variant,p.%3D,ENST00000543283,;CCSER2,synonymous_variant,p.%3D,ENST00000224756,;CCSER2,intron_variant,,ENST00000372088,;CCSER2,non_coding_transcript_exon_variant,,ENST00000498300,;CCSER2,intron_variant,,ENST00000480006,;CCSER2,intron_variant,,ENST00000494144,;CCSER2,intron_variant,,ENST00000493409,;CCSER2,intron_variant,,ENST00000466105,;	2561	80	54	SUCCESS
SLC16A12	387700	.	GRCh37	10	91198482	91198482	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	40	112	0	ENST00000341233.4:c.817T>C	p.Tyr273His	p.Y273H	ENST00000341233	NM_213606.3	273	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS7404.2	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTACACAA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF28,PROSITE_profiles:PS50850	.	.	ENSP00000360855	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000371790	Transcript	1	.	ENSG00000152779	23094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.181)	.	tolerated(0.24)	.	.	SLC16A12	HGNC	E9PSF9_HUMAN,E9PPP4_HUMAN	.	UPI0000049FA0	SNV	SLC16A12,missense_variant,p.Tyr273His,ENST00000341233,;SLC16A12,missense_variant,p.Tyr303His,ENST00000371790,;	1208	112	57	SUCCESS
KIF20B	9585	.	GRCh37	10	91469185	91469185	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	50	162	0	ENST00000371728.3:c.318A>G	p.Ser106=	p.S106=	ENST00000371728	NM_001284259.1	106	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS7407.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCAGGGCA	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR23165,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000260753	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000260753	Transcript	.	.	ENSG00000138182	7212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI20B_HUMAN	KIF20B	HGNC	.	.	UPI00001F9377	SNV	KIF20B,synonymous_variant,p.%3D,ENST00000371728,;KIF20B,synonymous_variant,p.%3D,ENST00000447580,;KIF20B,synonymous_variant,p.%3D,ENST00000416354,;KIF20B,synonymous_variant,p.%3D,ENST00000260753,;KIF20B,synonymous_variant,p.%3D,ENST00000394289,;	390	162	65	SUCCESS
HTR7	3363	.	GRCh37	10	92503355	92503355	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	78	0	ENST00000336152.3:c.1388T>A	p.Leu463Ter	p.L463*	ENST00000336152	NM_019859.3	463	tTa/tAa	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS7408.1	1388	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTAACCAA	NONE	.	.	hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247	.	.	ENSP00000337949	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000336152	Transcript	.	.	ENSG00000148680	5302	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5HT7R_HUMAN	HTR7	HGNC	.	.	UPI0000049B68	SNV	HTR7,stop_gained,p.Leu463Ter,ENST00000336152,;HTR7,intron_variant,,ENST00000371719,;HTR7,intron_variant,,ENST00000371721,;HTR7,intron_variant,,ENST00000277874,;	1415	78	39	SUCCESS
CEP55	55165	.	GRCh37	10	95259889	95259889	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	35	137	1	ENST00000371485.3:c.81A>T	p.Leu27Phe	p.L27F	ENST00000371485	NM_018131.4	27	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7428.1	81	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTAGAAAA	NONE	.	.	hmmpanther:PTHR31838	.	.	ENSP00000360540	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000371485	Transcript	.	.	ENSG00000138180	1161	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	CEP55_HUMAN	CEP55	HGNC	.	.	UPI000013D103	SNV	CEP55,missense_variant,p.Leu27Phe,ENST00000371485,;	385	138	43	SUCCESS
BLNK	29760	.	GRCh37	10	97976426	97976426	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	46	147	0	ENST00000224337.5:c.590C>T	p.Ser197Leu	p.S197L	ENST00000224337	NM_013314.3	197	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS7446.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGAACTG	NONE	.	.	hmmpanther:PTHR14098:SF3,hmmpanther:PTHR14098	.	.	ENSP00000224337	.	7/17	.	.	.	.	.	.	.	.	COSM3442241,COSM3442242	7/17	PASS	ENST00000224337	Transcript	1	.	ENSG00000095585	14211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.003)	.	tolerated(0.25)	1,1	BLNK_HUMAN	BLNK	HGNC	Q2MD56_HUMAN	.	UPI000006FDD6	SNV	BLNK,missense_variant,p.Ser197Leu,ENST00000427367,;BLNK,missense_variant,p.Ser197Leu,ENST00000224337,;BLNK,missense_variant,p.Ser197Leu,ENST00000413476,;BLNK,missense_variant,p.Ser197Leu,ENST00000371176,;BLNK,3_prime_UTR_variant,,ENST00000467799,;BLNK,non_coding_transcript_exon_variant,,ENST00000472763,;	732	147	64	SUCCESS
TLL2	7093	.	GRCh37	10	98145897	98145897	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	55	0	ENST00000357947.3:c.1928A>C	p.Asn643Thr	p.N643T	ENST00000357947	NM_012465.3	643	aAc/aCc	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS7449.1	1928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTTTGTG	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF49854	.	.	ENSP00000350630	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000357947	Transcript	.	.	ENSG00000095587	11844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0.01)	.	TLL2_HUMAN	TLL2	HGNC	.	.	UPI0000073AEE	SNV	TLL2,missense_variant,p.Asn643Thr,ENST00000357947,;	2154	55	30	SUCCESS
MMP7	4316	.	GRCh37	11	102394039	102394039	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	88	0	ENST00000260227.4:c.707A>T	p.Tyr236Phe	p.Y236F	ENST00000260227	NM_002423.3	236	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS8317.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATAGGTT	NONE	.	.	hmmpanther:PTHR10201:SF128,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000260227	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000260227	Transcript	.	.	ENSG00000137673	7174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MMP7_HUMAN	MMP7	HGNC	A5GZ72_HUMAN	.	UPI00000422BD	SNV	MMP7,missense_variant,p.Tyr236Phe,ENST00000260227,;MMP7,downstream_gene_variant,,ENST00000533366,;MMP7,downstream_gene_variant,,ENST00000531200,;	760	88	73	SUCCESS
MMP10	4319	.	GRCh37	11	102642848	102642848	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	49	0	ENST00000279441.4:c.1227-2A>T		p.X409_splice	ENST00000279441	NM_002425.2	409		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8321.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTAAACC	NONE	.	.	.	.	.	ENSP00000279441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000279441	Transcript	.	.	ENSG00000166670	7156	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP10_HUMAN	MMP10	HGNC	.	.	UPI00000422C0	SNV	MMP10,splice_acceptor_variant,,ENST00000279441,;WTAPP1,intron_variant,,ENST00000371455,;AP000647.3,upstream_gene_variant,,ENST00000535634,;	.	49	46	SUCCESS
MMP12	4321	.	GRCh37	11	102742328	102742328	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	74	0	ENST00000532855.1:n.718A>C		p.*240*	ENST00000532855				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGAATG	NONE	.	.	.	.	.	.	.	4/10	.	.	.	.	.	.	.	.	COSM4017300	4/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	MMP12	HGNC	.	.	.	SNV	MMP12,splice_region_variant,,ENST00000326227,;MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;	718	74	47	SUCCESS
DYNC2H1	79659	.	GRCh37	11	102984375	102984375	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	51	134	0	ENST00000375735.2:c.305A>T	p.Glu102Val	p.E102V	ENST00000375735	NM_001080463.1	102	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS44717.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAGAGTCAC	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	.	.	ENSP00000381167	.	2/90	.	.	.	.	.	.	.	.	.	2/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Glu102Val,ENST00000398093,;DYNC2H1,missense_variant,p.Glu102Val,ENST00000334267,;DYNC2H1,missense_variant,p.Glu102Val,ENST00000375735,;	305	134	115	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103018556	103018556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	45	0	ENST00000375735.2:c.2758G>T	p.Asp920Tyr	p.D920Y	ENST00000375735	NM_001080463.1	920	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS44717.1	2758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATTGATGAT	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	.	.	ENSP00000381167	.	19/90	.	.	.	.	.	.	.	.	.	19/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Asp920Tyr,ENST00000398093,;DYNC2H1,missense_variant,p.Asp920Tyr,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	2758	45	39	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103082515	103082515	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	74	0	ENST00000375735.2:c.8540-3T>C		p.X2847_splice	ENST00000375735	NM_001080463.1	2847		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44717.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTAGTTG	NONE	.	.	.	.	.	ENSP00000381167	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	LOW	53/89	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,splice_region_variant,,ENST00000398093,;DYNC2H1,splice_region_variant,,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,splice_region_variant,,ENST00000533027,;	.	74	60	SUCCESS
GRIA4	2893	.	GRCh37	11	105732861	105732861	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	93	0	ENST00000282499.5:c.599A>T	p.Glu200Val	p.E200V	ENST00000282499	NM_000829.3	200	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS8333.1	599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAACTTG	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000282499	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.727)	.	deleterious(0.01)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Glu200Val,ENST00000525187,;GRIA4,missense_variant,p.Glu200Val,ENST00000530497,;GRIA4,missense_variant,p.Glu200Val,ENST00000282499,;GRIA4,missense_variant,p.Glu200Val,ENST00000428631,;GRIA4,missense_variant,p.Glu200Val,ENST00000393127,;GRIA4,missense_variant,p.Glu200Val,ENST00000393125,;GRIA4,non_coding_transcript_exon_variant,,ENST00000527687,;GRIA4,non_coding_transcript_exon_variant,,ENST00000525032,;	1045	93	91	SUCCESS
GRIA4	2893	.	GRCh37	11	105769103	105769103	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	56	142	0	ENST00000282499.5:c.835T>A	p.Trp279Arg	p.W279R	ENST00000282499	NM_000829.3	279	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS8333.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCTGGAAG	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	.	.	ENSP00000282499	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	tolerated(0.06)	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,missense_variant,p.Trp279Arg,ENST00000282499,;GRIA4,missense_variant,p.Trp279Arg,ENST00000530497,;GRIA4,missense_variant,p.Trp279Arg,ENST00000393127,;GRIA4,missense_variant,p.Trp279Arg,ENST00000525187,;GRIA4,missense_variant,p.Trp279Arg,ENST00000428631,;GRIA4,missense_variant,p.Trp279Arg,ENST00000393125,;GRIA4,non_coding_transcript_exon_variant,,ENST00000527687,;	1281	142	133	SUCCESS
GRIA4	2893	.	GRCh37	11	105795169	105795169	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	94	0	ENST00000282499.5:c.1521A>G	p.Arg507=	p.R507=	ENST00000282499	NM_000829.3	507	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS8333.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACGAGAGGA	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,synonymous_variant,p.%3D,ENST00000282499,;GRIA4,synonymous_variant,p.%3D,ENST00000530497,;GRIA4,synonymous_variant,p.%3D,ENST00000393127,;GRIA4,synonymous_variant,p.%3D,ENST00000525187,;	1967	94	59	SUCCESS
GRIA4	2893	.	GRCh37	11	105795274	105795274	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	59	121	0	ENST00000282499.5:c.1626T>A	p.Pro542=	p.P542=	ENST00000282499	NM_000829.3	542	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8333.1	1626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCTCTGGC	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:3.40.190.10,SMART_domains:SM00079	.	.	ENSP00000282499	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,synonymous_variant,p.%3D,ENST00000282499,;GRIA4,synonymous_variant,p.%3D,ENST00000530497,;GRIA4,synonymous_variant,p.%3D,ENST00000393127,;GRIA4,synonymous_variant,p.%3D,ENST00000525187,;	2072	121	120	SUCCESS
SLC35F2	54733	.	GRCh37	11	107673871	107673871	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751070258	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	74	228	0	ENST00000525815.1:c.795C>A	p.Phe265Leu	p.F265L	ENST00000525815	NM_017515.4	265	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS41709.1	795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGAACAG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Pfam_domain:PF06027	.	.	ENSP00000436785	.	7/8	.	.	.	.	.	.	.	.	rs751070258,COSM378989	7/8	PASS	ENST00000525815	Transcript	.	.	ENSG00000110660	23615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(0.18)	0,1	S35F2_HUMAN	SLC35F2	HGNC	E9PKZ2_HUMAN,B4DUB9_HUMAN	.	UPI0000074335	SNV	SLC35F2,missense_variant,p.Phe265Leu,ENST00000525815,;SLC35F2,missense_variant,p.Phe265Leu,ENST00000429869,;SLC35F2,missense_variant,p.Phe218Leu,ENST00000375682,;SLC35F2,missense_variant,p.Phe265Leu,ENST00000525071,;SLC35F2,missense_variant,p.Phe117Leu,ENST00000265836,;SLC35F2,missense_variant,p.Arg248Ser,ENST00000532513,;SLC35F2,3_prime_UTR_variant,,ENST00000533664,;SLC35F2,downstream_gene_variant,,ENST00000524991,;	1216	228	183	SUCCESS
ATM	472	.	GRCh37	11	108175446	108175446	+	synonymous_variant	Silent	SNP	T	T	C	rs1555107326	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	63	0	ENST00000278616.4:c.5541T>C	p.His1847=	p.H1847=	ENST00000278616	NM_000051.3	1847	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS31669.1	5541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATGATAT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	.	.	ENSP00000278616	.	37/63	.	.	.	.	.	.	.	.	.	37/63	PASS	ENST00000278616	Transcript	.	.	ENSG00000149311	795	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATM_HUMAN	ATM	HGNC	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN	.	UPI0000DBEF44	SNV	ATM,synonymous_variant,p.%3D,ENST00000452508,;ATM,synonymous_variant,p.%3D,ENST00000278616,;C11orf65,downstream_gene_variant,,ENST00000525729,;ATM,upstream_gene_variant,,ENST00000532765,;ATM,synonymous_variant,p.%3D,ENST00000529588,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000534625,;	5926	63	44	SUCCESS
C11orf65	160140	.	GRCh37	11	108253873	108253873	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	74	0	ENST00000393084.1:c.817A>C	p.Ile273Leu	p.I273L	ENST00000393084	NM_152587.3	273	Ata/Cta	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS8340.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATATGTTTT	NONE	.	.	.	.	.	ENSP00000376799	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000393084	Transcript	.	.	ENSG00000166323	28519	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.77)	.	CK065_HUMAN	C11orf65	HGNC	.	.	UPI000006DEE6	SNV	C11orf65,missense_variant,p.Ile273Leu,ENST00000393084,;C11orf65,missense_variant,p.Ile273Leu,ENST00000529391,;C11orf65,intron_variant,,ENST00000524755,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000526725,;C11orf65,missense_variant,p.Ile273Leu,ENST00000527531,;	887	74	61	SUCCESS
MUC2	4583	.	GRCh37	11	1083817	1083817	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs770734186	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	18	66	0	ENST00000441003.2:c.2349C>A	p.Ser783Arg	p.S783R	ENST00000441003	NM_002457.2	783	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	.	2349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCTGCCA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Gene3D:2.10.25.10,Superfamily_domains:SSF57567	.	.	ENSP00000415183	.	18/49	.	.	.	.	.	.	.	.	rs770734186	18/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Ser783Arg,ENST00000441003,;MUC2,missense_variant,p.Ser783Arg,ENST00000359061,;	2376	66	20	SUCCESS
NXPE4	54827	.	GRCh37	11	114453089	114453089	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs184063316	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	74	0	ENST00000375478.3:c.751T>A	p.Cys251Ser	p.C251S	ENST00000375478	NM_001077639.1	251	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS41718.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGGGCA	NONE	by1000G	.	hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3,Pfam_domain:PF06312	.	.	ENSP00000364627	.	3/6	.	.	.	.	.	.	.	.	rs184063316	3/6	PASS	ENST00000375478	Transcript	.	.	ENSG00000137634	23117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NXPE4_HUMAN	NXPE4	HGNC	.	.	UPI00000477F3	SNV	NXPE4,missense_variant,p.Cys251Ser,ENST00000375478,;NXPE4,intron_variant,,ENST00000424261,;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	932	74	48	SUCCESS
CADM1	23705	.	GRCh37	11	115080321	115080321	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	28	51	0	ENST00000452722.3:c.1051A>G	p.Thr351Ala	p.T351A	ENST00000452722	NM_014333.3	351	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS8373.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGTGGTGG	BUFFER|p.T353delT|c.1058_1060delCCA|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53	.	.	ENSP00000395359	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000452722	Transcript	.	.	ENSG00000182985	5951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.65)	.	CADM1_HUMAN	CADM1	HGNC	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN	.	UPI0000049C25	SNV	CADM1,missense_variant,p.Thr351Ala,ENST00000452722,;CADM1,missense_variant,p.Thr351Ala,ENST00000331581,;CADM1,missense_variant,p.Thr351Ala,ENST00000537058,;CADM1,intron_variant,,ENST00000545380,;CADM1,intron_variant,,ENST00000536727,;CADM1,intron_variant,,ENST00000542447,;CADM1,non_coding_transcript_exon_variant,,ENST00000441886,;CADM1,intron_variant,,ENST00000537140,;CADM1,downstream_gene_variant,,ENST00000541434,;	1072	51	48	SUCCESS
MUC5AC	4586	.	GRCh37	11	1162340	1162340	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	44	83	0	ENST00000534821.1:c.1849T>A	p.Cys617Ser	p.C617S	ENST00000534821		617	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	.	1849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTGCTCT	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF248	.	.	ENSP00000435591	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000534821	Transcript	.	.	ENSG00000215182	7515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	MUC5AC	HGNC	Q7LDT3_HUMAN,E9PJ98_HUMAN	.	UPI0000456454	SNV	MUC5AC,missense_variant,p.Cys614Ser,ENST00000356191,;MUC5AC,missense_variant,p.Cys617Ser,ENST00000534821,;	1896	83	50	SUCCESS
SIDT2	51092	.	GRCh37	11	117054562	117054562	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	73	0	ENST00000324225.4:c.770G>A	p.Gly257Glu	p.G257E	ENST00000324225	NM_001040455.1	257	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS31682.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGGGGGCT	NONE	.	.	hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16,Pfam_domain:PF13965	.	.	ENSP00000314023	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000324225	Transcript	.	.	ENSG00000149577	24272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	SIDT2_HUMAN	SIDT2	HGNC	G3V172_HUMAN,E9PPN9_HUMAN,E9PME7_HUMAN,E9PMC3_HUMAN	.	UPI000004BA68	SNV	SIDT2,missense_variant,p.Gly257Glu,ENST00000324225,;SIDT2,missense_variant,p.Gly257Glu,ENST00000278951,;SIDT2,missense_variant,p.Gly257Glu,ENST00000431081,;SIDT2,missense_variant,p.Gly107Glu,ENST00000524842,;SIDT2,downstream_gene_variant,,ENST00000532960,;SIDT2,downstream_gene_variant,,ENST00000531353,;SIDT2,non_coding_transcript_exon_variant,,ENST00000530948,;SIDT2,intron_variant,,ENST00000525339,;SIDT2,non_coding_transcript_exon_variant,,ENST00000531255,;SIDT2,downstream_gene_variant,,ENST00000528397,;SIDT2,upstream_gene_variant,,ENST00000529441,;SIDT2,upstream_gene_variant,,ENST00000526813,;	1301	73	37	SUCCESS
TMPRSS13	84000	.	GRCh37	11	117789167	117789167	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	53	0	ENST00000524993.1:c.408T>C	p.Pro136=	p.P136=	ENST00000524993	NM_001077263.2	136	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41721.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037935,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF1	.	.	ENSP00000434279	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000524993	Transcript	.	.	ENSG00000137747	29808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TMPRSS13	HGNC	Q1RMF8_HUMAN,E9PRA0_HUMAN	.	UPI0000E5923F	SNV	TMPRSS13,synonymous_variant,p.%3D,ENST00000526090,;TMPRSS13,synonymous_variant,p.%3D,ENST00000524993,;TMPRSS13,synonymous_variant,p.%3D,ENST00000430170,;TMPRSS13,synonymous_variant,p.%3D,ENST00000528626,;TMPRSS13,synonymous_variant,p.%3D,ENST00000445164,;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	466	53	63	SUCCESS
MCAM	4162	.	GRCh37	11	119185904	119185904	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	32	0	ENST00000264036.4:c.137T>G	p.Leu46Arg	p.L46R	ENST00000264036	NM_006500.2	46	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS31690.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCAGAAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11973:SF18,hmmpanther:PTHR11973,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000264036	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000264036	Transcript	.	.	ENSG00000076706	6934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MUC18_HUMAN	MCAM	HGNC	.	.	UPI000013D4A8	SNV	MCAM,missense_variant,p.Leu46Arg,ENST00000264036,;MCAM,upstream_gene_variant,,ENST00000392814,;MCAM,non_coding_transcript_exon_variant,,ENST00000530144,;MCAM,non_coding_transcript_exon_variant,,ENST00000529686,;MCAM,non_coding_transcript_exon_variant,,ENST00000529257,;MCAM,non_coding_transcript_exon_variant,,ENST00000534522,;MCAM,non_coding_transcript_exon_variant,,ENST00000526992,;MCAM,non_coding_transcript_exon_variant,,ENST00000525555,;MCAM,non_coding_transcript_exon_variant,,ENST00000529295,;MCAM,non_coding_transcript_exon_variant,,ENST00000528502,;MCAM,intron_variant,,ENST00000530706,;MCAM,upstream_gene_variant,,ENST00000524940,;MCAM,upstream_gene_variant,,ENST00000528976,;MCAM,non_coding_transcript_exon_variant,,ENST00000530937,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,non_coding_transcript_exon_variant,,ENST00000528533,;MCAM,non_coding_transcript_exon_variant,,ENST00000530006,;MCAM,non_coding_transcript_exon_variant,,ENST00000526190,;	152	32	18	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120349051	120349051	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs761706545	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	72	0	ENST00000397843.2:c.3719A>T	p.His1240Leu	p.H1240L	ENST00000397843	NM_015313.2	1240	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS41727.1	3719	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACACCTGC	NONE	byFrequency	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8	.	.	ENSP00000380942	.	37/41	.	.	.	.	.	.	.	.	rs761706545,COSM3808589	37/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.001)	.	tolerated_low_confidence(0.51)	0,1	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,missense_variant,p.His1137Leu,ENST00000532993,;ARHGEF12,missense_variant,p.His1240Leu,ENST00000397843,;ARHGEF12,missense_variant,p.His1221Leu,ENST00000356641,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000526067,;ARHGEF12,downstream_gene_variant,,ENST00000528681,;ARHGEF12,downstream_gene_variant,,ENST00000529970,;	3885	72	54	SUCCESS
ZNF202	7753	.	GRCh37	11	123599835	123599835	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs768814383	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	26	0	ENST00000336139.4:c.701A>G	p.Gln234Arg	p.Q234R	ENST00000336139		234	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS8443.1	701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTGTGAC	NONE	.	.	Superfamily_domains:0044637,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	.	.	ENSP00000337724	.	5/8	.	.	.	.	.	.	.	.	rs768814383	5/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,missense_variant,p.Gln234Arg,ENST00000529691,;ZNF202,missense_variant,p.Gln234Arg,ENST00000336139,;ZNF202,missense_variant,p.Gln234Arg,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	1064	26	31	SUCCESS
ZNF202	7753	.	GRCh37	11	123601695	123601695	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	24	0	ENST00000336139.4:c.-97-2A>T		p.X33_splice	ENST00000336139		33		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8443.1	.	MUTECT|MUSE	.	GGCCCTGGATA	NONE	.	.	.	.	.	ENSP00000337724	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	HIGH	2/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,splice_acceptor_variant,,ENST00000529691,;ZNF202,splice_acceptor_variant,,ENST00000336139,;ZNF202,splice_acceptor_variant,,ENST00000530393,;ZNF202,splice_acceptor_variant,,ENST00000528306,;ZNF202,splice_acceptor_variant,,ENST00000533463,;ZNF202,splice_acceptor_variant,,ENST00000526252,;ZNF202,splice_acceptor_variant,,ENST00000529250,;ZNF202,intron_variant,,ENST00000530944,;	.	24	20	SUCCESS
OR4D5	219875	.	GRCh37	11	123811185	123811185	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	42	88	0	ENST00000307033.2:c.862A>T	p.Thr288Ser	p.T288S	ENST00000307033	NM_001001965.1	288	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS31699.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATACCCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	.	.	ENSP00000305970	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307033	Transcript	.	.	ENSG00000171014	14852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	deleterious(0.04)	.	OR4D5_HUMAN	OR4D5	HGNC	.	.	UPI000003F227	SNV	OR4D5,missense_variant,p.Thr288Ser,ENST00000307033,;OR6T1,downstream_gene_variant,,ENST00000321252,;	936	88	82	SUCCESS
OR10G8	219869	.	GRCh37	11	123900744	123900744	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1380154007	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	132	167	1	ENST00000431524.1:c.415T>A	p.Ser139Thr	p.S139T	ENST00000431524	NM_001004464.1	139	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS31704.1	415	RADIA|SOMATICSNIPER|VARSCANS	.	GGCGCTCGTGT	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262	.	.	ENSP00000389072	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000431524	Transcript	.	.	ENSG00000234560	14845	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.25)	.	O10G8_HUMAN	OR10G8	HGNC	.	.	UPI0000040A8F	SNV	OR10G8,missense_variant,p.Ser139Thr,ENST00000431524,;	448	168	226	SUCCESS
OR8B8	26493	.	GRCh37	11	124310403	124310403	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	68	167	0	ENST00000328064.2:c.579T>A	p.Tyr193Ter	p.Y193*	ENST00000328064	NM_012378.1	193	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS8446.1	579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACATAGGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF5,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000330280	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328064	Transcript	.	.	ENSG00000197125	8477	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8B8_HUMAN	OR8B8	HGNC	.	.	UPI00000015B1	SNV	OR8B8,stop_gained,p.Tyr193Ter,ENST00000328064,;	652	167	150	SUCCESS
STT3A	3703	.	GRCh37	11	125489978	125489978	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs944764330	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	91	0	ENST00000392708.4:c.2036A>G	p.Glu679Gly	p.E679G	ENST00000392708	NM_001278503.1	679	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8458.1	2036	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAGGAAG	NONE	.	.	hmmpanther:PTHR13872:SF21,hmmpanther:PTHR13872	.	.	ENSP00000376472	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000392708	Transcript	.	.	ENSG00000134910	6172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	deleterious(0)	.	STT3A_HUMAN	STT3A	HGNC	E9PNQ1_HUMAN,E9PN73_HUMAN,E9PIJ8_HUMAN,E9PI32_HUMAN	.	UPI0000071627	SNV	STT3A,missense_variant,p.Glu587Gly,ENST00000531491,;STT3A,missense_variant,p.Glu679Gly,ENST00000529196,;STT3A,missense_variant,p.Glu679Gly,ENST00000392708,;STT3A,non_coding_transcript_exon_variant,,ENST00000526364,;STT3A,non_coding_transcript_exon_variant,,ENST00000525946,;	2195	91	81	SUCCESS
MUC5B	727897	.	GRCh37	11	1261069	1261069	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	19	41	1	ENST00000529681.1:c.3624T>C	p.Asn1208=	p.N1208=	ENST00000529681	NM_002458.2	1208	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS44515.2	3624	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATGAGGA	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Gene3D:2.10.25.10	.	.	ENSP00000436812	.	28/49	.	.	.	.	.	.	.	.	.	28/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	3682	42	20	SUCCESS
FLI1	2313	.	GRCh37	11	128564128	128564128	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs772912959	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	56	126	0	ENST00000527786.2:c.-26G>T		p.*9*	ENST00000527786	NM_001271010.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44768.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGGGGGGC	NONE	.	.	.	.	.	ENSP00000433488	.	1/9	.	.	.	.	.	.	.	.	rs772912959	1/9	PASS	ENST00000527786	Transcript	.	.	ENSG00000151702	3749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FLI1	HGNC	.	.	UPI000012A972	SNV	FLI1,5_prime_UTR_variant,,ENST00000534087,;FLI1,5_prime_UTR_variant,,ENST00000527786,;FLI1,intron_variant,,ENST00000525560,;FLI1,intron_variant,,ENST00000344954,;FLI1,intron_variant,,ENST00000527767,;SENCR,intron_variant,,ENST00000526269,;FLI1,5_prime_UTR_variant,,ENST00000429175,;FLI1,intron_variant,,ENST00000608303,;	464	126	126	SUCCESS
ADAMTS8	11095	.	GRCh37	11	130278692	130278692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	68	1	ENST00000257359.6:c.1894A>T	p.Arg632Trp	p.R632W	ENST00000257359	NM_007037.4	632	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS41732.1	1894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCCCCC	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41	.	.	ENSP00000257359	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000257359	Transcript	.	.	ENSG00000134917	224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	ATS8_HUMAN	ADAMTS8	HGNC	.	.	UPI000013CF5D	SNV	ADAMTS8,missense_variant,p.Arg632Trp,ENST00000257359,;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	2601	69	43	SUCCESS
SNX19	399979	.	GRCh37	11	130748331	130748331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	106	0	ENST00000265909.4:c.2965G>T	p.Gly989Cys	p.G989C	ENST00000265909	NM_014758.2	989	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS31721.1	2965	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCCATCC	NONE	.	.	.	.	.	ENSP00000265909	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.883)	.	deleterious_low_confidence(0)	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,missense_variant,p.Gly229Cys,ENST00000534726,;SNX19,missense_variant,p.Gly369Cys,ENST00000528555,;SNX19,missense_variant,p.Gly157Cys,ENST00000426933,;SNX19,missense_variant,p.Gly432Cys,ENST00000539184,;SNX19,missense_variant,p.Gly989Cys,ENST00000265909,;SNX19,missense_variant,p.Gly229Cys,ENST00000545537,;SNX19,missense_variant,p.Gly369Cys,ENST00000530356,;SNX19,non_coding_transcript_exon_variant,,ENST00000533318,;SNX19,non_coding_transcript_exon_variant,,ENST00000526579,;SNX19,non_coding_transcript_exon_variant,,ENST00000530330,;SNX19,non_coding_transcript_exon_variant,,ENST00000527116,;	3535	106	75	SUCCESS
OPCML	4978	.	GRCh37	11	133402212	133402212	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	58	0	ENST00000524381.1:c.8A>G	p.His3Arg	p.H3R	ENST00000524381	NM_001012393.1	3	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	.	CCDS31722.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGATGGTAC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000434750	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000524381	Transcript	.	.	ENSG00000183715	8143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.42)	.	OPCM_HUMAN	OPCML	HGNC	B2CZX3_HUMAN	.	UPI00001A9955	SNV	OPCML,missense_variant,p.His3Arg,ENST00000524381,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;	203	58	42	SUCCESS
GLB1L3	112937	.	GRCh37	11	134177095	134177095	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	56	0	ENST00000431683.2:c.954T>C	p.Asp318=	p.D318=	ENST00000431683	NM_001080407.2	318	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS44780.1	954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGCAAA	NONE	.	.	hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59,Gene3D:3.20.20.80,Pfam_domain:PF01301,PIRSF_domain:PIRSF006336,Superfamily_domains:SSF51445	.	.	ENSP00000396615	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000431683	Transcript	.	.	ENSG00000166105	25147	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLBL3_HUMAN	GLB1L3	HGNC	.	.	UPI0001633637	SNV	GLB1L3,synonymous_variant,p.%3D,ENST00000431683,;GLB1L3,downstream_gene_variant,,ENST00000389887,;GLB1L3,missense_variant,p.Met4Thr,ENST00000455971,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,intron_variant,,ENST00000498012,;GLB1L3,upstream_gene_variant,,ENST00000410100,;GLB1L3,upstream_gene_variant,,ENST00000467068,;	954	56	53	SUCCESS
KRTAP5-4	387267	.	GRCh37	11	1642911	1642911	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	100	0	ENST00000399682.1:c.413A>G	p.Gln138Arg	p.Q138R	ENST00000399682	NM_001012709.1	138	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	.	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACTGGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262	.	.	ENSP00000382590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399682	Transcript	.	.	ENSG00000241598	23599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.1)	.	.	KRTAP5-4	HGNC	A8MUN0_HUMAN	.	UPI0000E592E4	SNV	KRTAP5-4,missense_variant,p.Gln138Arg,ENST00000399682,;	458	100	32	SUCCESS
PLEKHA7	144100	.	GRCh37	11	16816089	16816089	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs150403598	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	19	63	0	ENST00000355661.3:c.2691G>T	p.Gln897His	p.Q897H	ENST00000355661		897	caG/caT	0	G:0.0005	G:0.0008	.	G:0	.	A	Q/H	protein_coding	YES	CCDS31434.1	2691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGCTGGGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752	G:0	G:0	ENSP00000347883	G:0	19/23	.	.	.	.	.	.	.	.	rs150403598	19/23	PASS	ENST00000355661	Transcript	.	G:0.0002	ENSG00000166689	27049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	G:0	tolerated(0.06)	.	PKHA7_HUMAN	PLEKHA7	HGNC	E9PL74_HUMAN,E9PIK1_HUMAN	.	UPI0000456498	SNV	PLEKHA7,missense_variant,p.Gln897His,ENST00000448080,;PLEKHA7,missense_variant,p.Gln897His,ENST00000355661,;PLEKHA7,missense_variant,p.Gln528His,ENST00000530489,;PLEKHA7,missense_variant,p.Gln897His,ENST00000531066,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,downstream_gene_variant,,ENST00000525581,;PLEKHA7,upstream_gene_variant,,ENST00000533901,;PLEKHA7,upstream_gene_variant,,ENST00000332954,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525177,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,upstream_gene_variant,,ENST00000533251,;PLEKHA7,upstream_gene_variant,,ENST00000531776,;	2702	63	27	SUCCESS
SAA2	6289	.	GRCh37	11	18267497	18267497	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	199	0	ENST00000256733.4:c.190A>G	p.Lys64Glu	p.K64E	ENST00000256733	NM_030754.4	64	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS7833.1	190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTGGCAG	NONE	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,Pfam_domain:PF00277,PIRSF_domain:PIRSF002472,SMART_domains:SM00197,Prints_domain:PR00306	.	.	ENSP00000436126	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000526900	Transcript	.	.	ENSG00000134339	10514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.06)	.	SAA2_HUMAN	SAA2	HGNC	.	.	UPI000016A553	SNV	SAA2,missense_variant,p.Lys64Glu,ENST00000529528,;SAA2,missense_variant,p.Lys64Glu,ENST00000526900,;SAA2,missense_variant,p.Lys64Glu,ENST00000530400,;SAA2,missense_variant,p.Lys64Glu,ENST00000414546,;SAA2,missense_variant,p.Lys64Glu,ENST00000528349,;SAA2,missense_variant,p.Lys64Glu,ENST00000256733,;RNA5SP333,downstream_gene_variant,,ENST00000363466,;SAA2-SAA4,non_coding_transcript_exon_variant,,ENST00000524555,;	374	199	91	SUCCESS
SAA1	6288	.	GRCh37	11	18290840	18290840	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	129	0	ENST00000356524.4:c.190A>G	p.Lys64Glu	p.K64E	ENST00000356524	NM_199161.3	64	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7835.1	190	RADIA|MUTECT|MUSE	.	CTGCCAAAAGG	NONE	.	.	hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,Pfam_domain:PF00277,SMART_domains:SM00197,PIRSF_domain:PIRSF002472,Prints_domain:PR00306	.	.	ENSP00000384906	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000405158	Transcript	.	.	ENSG00000173432	10513	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.098)	.	deleterious(0.05)	.	SAA1_HUMAN	SAA1	HGNC	E9PQD6_HUMAN	.	UPI000013F119	SNV	SAA1,missense_variant,p.Lys64Glu,ENST00000356524,;SAA1,missense_variant,p.Lys64Glu,ENST00000405158,;SAA1,missense_variant,p.Lys64Glu,ENST00000532858,;RNA5SP334,downstream_gene_variant,,ENST00000364825,;	374	129	38	SUCCESS
TNNI2	7136	.	GRCh37	11	1861801	1861801	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	14	57	1	ENST00000252898.7:c.101A>T	p.Glu34Val	p.E34V	ENST00000252898		34	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS31333.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGAGAGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13738:SF2,hmmpanther:PTHR13738,Gene3D:1.20.5.350,Pfam_domain:PF00992,Superfamily_domains:SSF90250	.	.	ENSP00000371331	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000381906	Transcript	.	.	ENSG00000130598	11946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.2)	.	TNNI2_HUMAN	TNNI2	HGNC	.	.	UPI0000001605	SNV	TNNI2,missense_variant,p.Glu34Val,ENST00000381911,;TNNI2,missense_variant,p.Glu34Val,ENST00000252898,;TNNI2,missense_variant,p.Glu34Val,ENST00000381905,;TNNI2,missense_variant,p.Glu34Val,ENST00000381906,;SYT8,downstream_gene_variant,,ENST00000430303,;SYT8,downstream_gene_variant,,ENST00000417052,;SYT8,downstream_gene_variant,,ENST00000381968,;SYT8,downstream_gene_variant,,ENST00000535046,;SYT8,downstream_gene_variant,,ENST00000436964,;SYT8,downstream_gene_variant,,ENST00000341958,;SYT8,downstream_gene_variant,,ENST00000381978,;SYT8,downstream_gene_variant,,ENST00000483280,;TNNI2,non_coding_transcript_exon_variant,,ENST00000468473,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000479276,;SYT8,downstream_gene_variant,,ENST00000424556,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000490707,;SYT8,downstream_gene_variant,,ENST00000482118,;SYT8,downstream_gene_variant,,ENST00000464897,;SYT8,downstream_gene_variant,,ENST00000479089,;	170	58	16	SUCCESS
IGSF22	283284	.	GRCh37	11	18743196	18743196	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	21	70	0	ENST00000319338.6:c.264C>T	p.Ala88=	p.A88=	ENST00000319338		88	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS41625.2	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGGGCTCG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19900:SF53,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000421191	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000513874	Transcript	.	.	ENSG00000179057	26750	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGS22_HUMAN	IGSF22	HGNC	.	.	UPI0001D3B05B	SNV	IGSF22,synonymous_variant,p.%3D,ENST00000513874,;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,downstream_gene_variant,,ENST00000412229,;IGSF22,synonymous_variant,p.%3D,ENST00000319338,;IGSF22,non_coding_transcript_exon_variant,,ENST00000504981,;	404	70	25	SUCCESS
PTPN5	84867	.	GRCh37	11	18755139	18755139	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	39	91	0	ENST00000358540.2:c.1044C>A	p.Asp348Glu	p.D348E	ENST00000358540	NM_006906.1	348	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS7845.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGTCGTC	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799	.	.	ENSP00000351342	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000358540	Transcript	.	.	ENSG00000110786	9657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.19)	.	tolerated(0.23)	.	PTN5_HUMAN	PTPN5	HGNC	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN	.	UPI00001AE663	SNV	PTPN5,missense_variant,p.Asp316Glu,ENST00000396167,;PTPN5,missense_variant,p.Asp348Glu,ENST00000396171,;PTPN5,missense_variant,p.Asp348Glu,ENST00000358540,;PTPN5,missense_variant,p.Asp324Glu,ENST00000396168,;PTPN5,missense_variant,p.Asp152Glu,ENST00000477854,;PTPN5,missense_variant,p.Asp316Glu,ENST00000396170,;PTPN5,upstream_gene_variant,,ENST00000396166,;RP11-1081L13.4,intron_variant,,ENST00000527285,;	1475	91	45	SUCCESS
MRGPRE	116534	.	GRCh37	11	3249418	3249418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	14	39	0	ENST00000389832.5:c.612G>T	p.Glu204Asp	p.E204D	ENST00000389832		204	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	.	609	MUTECT|SOMATICSNIPER|MUSE	.	CCTCGCTCCAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF26,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02111	.	.	ENSP00000393251	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000436689	Transcript	.	.	ENSG00000184350	30694	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.845)	.	tolerated(0.11)	.	MRGRE_HUMAN	MRGPRE	HGNC	.	.	UPI00001D78AA	SNV	MRGPRE,missense_variant,p.Glu203Asp,ENST00000436689,;MRGPRE,missense_variant,p.Glu204Asp,ENST00000389832,;AC109309.4,intron_variant,,ENST00000418995,;	919	39	15	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33564933	33564933	+	synonymous_variant	Silent	SNP	A	A	G	rs759072863	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	63	180	0	ENST00000321505.4:c.933A>G	p.Ser311=	p.S311=	ENST00000321505		311	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS44565.2	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCATCTCC	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	1/20	.	.	.	.	.	.	.	.	rs759072863	1/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,synonymous_variant,p.%3D,ENST00000321505,;KIAA1549L,synonymous_variant,p.%3D,ENST00000389726,;KIAA1549L,synonymous_variant,p.%3D,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	1113	180	166	SUCCESS
LDLRAD3	143458	.	GRCh37	11	36057758	36057758	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1565176450	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	49	0	ENST00000315571.5:c.152G>T	p.Gly51Val	p.G51V	ENST00000315571	NM_174902.2	51	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31462.1	152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGGGCTGC	NONE	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000318607	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000315571	Transcript	.	.	ENSG00000179241	27046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	LRAD3_HUMAN	LDLRAD3	HGNC	.	.	UPI000003B0FB	SNV	LDLRAD3,missense_variant,p.Gly51Val,ENST00000315571,;LDLRAD3,intron_variant,,ENST00000528989,;LDLRAD3,intron_variant,,ENST00000524419,;LDLRAD3,intron_variant,,ENST00000532490,;	173	49	42	SUCCESS
RAG1	5896	.	GRCh37	11	36596843	36596843	+	synonymous_variant	Silent	SNP	A	A	C	rs753984753	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	94	0	ENST00000299440.5:c.1989A>C	p.Ala663=	p.A663=	ENST00000299440	NM_000448.2	663	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS7902.1	1989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGATGA	NONE	byFrequency|byCluster	.	Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	rs753984753	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,synonymous_variant,p.%3D,ENST00000299440,;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,synonymous_variant,p.%3D,ENST00000534663,;	2101	94	86	SUCCESS
RAG2	5897	.	GRCh37	11	36614915	36614915	+	synonymous_variant	Silent	SNP	A	A	G	rs767420787	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	47	0	ENST00000311485.3:c.804T>C	p.Asn268=	p.N268=	ENST00000311485	NM_000536.3	268	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS7903.1	804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCATTGTT	NONE	.	.	hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Pfam_domain:PF03089,Superfamily_domains:0047741	.	.	ENSP00000308620	.	2/2	.	.	.	.	.	.	.	.	rs767420787	2/2	PASS	ENST00000311485	Transcript	.	.	ENSG00000175097	9832	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG2_HUMAN	RAG2	HGNC	Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN	.	UPI00001330E9	SNV	RAG2,synonymous_variant,p.%3D,ENST00000311485,;C11orf74,upstream_gene_variant,,ENST00000530697,;C11orf74,upstream_gene_variant,,ENST00000534635,;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000347206,;RAG2,downstream_gene_variant,,ENST00000529083,;C11orf74,upstream_gene_variant,,ENST00000527108,;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000446510,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000334307,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG2,downstream_gene_variant,,ENST00000534379,;C11orf74,upstream_gene_variant,,ENST00000528092,;RAG1,downstream_gene_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000524539,;	966	47	48	SUCCESS
ANO9	338440	.	GRCh37	11	430368	430368	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	76	207	1	ENST00000332826.6:c.575T>A	p.Val192Asp	p.V192D	ENST00000332826	NM_001012302.2	192	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS31326.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGACGAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF27,hmmpanther:PTHR12308,Pfam_domain:PF04547	.	.	ENSP00000332788	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000332826	Transcript	.	.	ENSG00000185101	20679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.215)	.	deleterious(0.01)	.	ANO9_HUMAN	ANO9	HGNC	.	.	UPI00001D782B	SNV	ANO9,missense_variant,p.Val192Asp,ENST00000332826,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,upstream_gene_variant,,ENST00000525857,;ANO9,upstream_gene_variant,,ENST00000526142,;ANO9,upstream_gene_variant,,ENST00000534161,;	660	208	87	SUCCESS
ALX4	60529	.	GRCh37	11	44297157	44297157	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765070227	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	43	0	ENST00000329255.3:c.518T>A	p.Val173Glu	p.V173E	ENST00000329255	NM_021926.3	173	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS31468.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACAGTG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF285	.	.	ENSP00000332744	.	2/4	.	.	.	.	.	.	.	.	rs765070227	2/4	PASS	ENST00000329255	Transcript	.	.	ENSG00000052850	450	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.89)	.	ALX4_HUMAN	ALX4	HGNC	.	.	UPI000016A402	SNV	ALX4,missense_variant,p.Val173Glu,ENST00000329255,;	622	43	48	SUCCESS
CREB3L1	90993	.	GRCh37	11	46334468	46334468	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	35	0	ENST00000529193.1:c.1029C>A	p.Asn343Lys	p.N343K	ENST00000529193	NM_052854.3	343	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS53620.1	1029	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACAGGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24,Pfam_domain:PF00170,Gene3D:1.20.5.170,SMART_domains:SM00338,Superfamily_domains:SSF57959	.	.	ENSP00000434939	.	8/12	.	.	.	.	.	.	.	.	COSM118630	8/12	PASS	ENST00000529193	Transcript	.	.	ENSG00000157613	18856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.995)	.	deleterious(0)	1	CR3L1_HUMAN	CREB3L1	HGNC	E9PK33_HUMAN	.	UPI000004ABFF	SNV	CREB3L1,missense_variant,p.Asn103Lys,ENST00000530518,;CREB3L1,missense_variant,p.Asn343Lys,ENST00000288400,;CREB3L1,missense_variant,p.Asn343Lys,ENST00000529193,;CREB3L1,downstream_gene_variant,,ENST00000534787,;CREB3L1,upstream_gene_variant,,ENST00000534616,;CREB3L1,upstream_gene_variant,,ENST00000530244,;CREB3L1,downstream_gene_variant,,ENST00000527342,;	1480	35	35	SUCCESS
MYBPC3	4607	.	GRCh37	11	47372124	47372124	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	74	233	0	ENST00000545968.1:c.335A>T	p.Glu112Val	p.E112V	ENST00000545968	NM_000256.3	112	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS53621.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TGGCCTCAGCA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000442795	.	3/35	.	.	.	.	.	.	.	.	.	3/35	PASS	ENST00000545968	Transcript	.	.	ENSG00000134571	7551	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.11)	.	MYPC3_HUMAN	MYBPC3	HGNC	B6D426_HUMAN	.	UPI000006EEAA	SNV	MYBPC3,missense_variant,p.Glu112Val,ENST00000545968,;MYBPC3,missense_variant,p.Glu112Val,ENST00000256993,;MYBPC3,missense_variant,p.Glu112Val,ENST00000399249,;SPI1,downstream_gene_variant,,ENST00000378538,;SPI1,downstream_gene_variant,,ENST00000227163,;SPI1,downstream_gene_variant,,ENST00000533030,;MYBPC3,missense_variant,p.Glu112Val,ENST00000544791,;	390	233	177	SUCCESS
OR51F2	119694	.	GRCh37	11	4842970	4842970	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	44	128	0	ENST00000322110.5:c.355C>A	p.His119Asn	p.H119N	ENST00000322110	NM_001004753.1	119	Cac/Aac	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS31361.1	355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTACACGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF87,Pfam_domain:PF10320,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000323952	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322110	Transcript	.	.	ENSG00000176925	15197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	O51F2_HUMAN	OR51F2	HGNC	.	.	UPI000004B219	SNV	OR51F2,missense_variant,p.His119Asn,ENST00000322110,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	420	128	52	SUCCESS
OR51S1	119692	.	GRCh37	11	4870336	4870336	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	51	105	0	ENST00000322101.2:c.103T>A	p.Trp35Arg	p.W35R	ENST00000322101	NM_001004758.1	35	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS31362.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCACCAGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000322754	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322101	Transcript	.	.	ENSG00000176922	15204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	O51S1_HUMAN	OR51S1	HGNC	.	.	UPI0000041C33	SNV	OR51S1,missense_variant,p.Trp35Arg,ENST00000322101,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	179	105	61	SUCCESS
OR51A7	119687	.	GRCh37	11	4928636	4928636	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs779542879	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	21	61	0	ENST00000359350.4:c.37C>A	p.Leu13Ile	p.L13I	ENST00000359350	NM_001004749.1	13	Ctt/Att	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS31364.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCTTCTG	NONE	.	.	Superfamily_domains:SSF81321,hmmpanther:PTHR26450:SF114,hmmpanther:PTHR26450	.	.	ENSP00000352305	.	1/1	.	.	.	.	.	.	.	.	rs779542879	1/1	PASS	ENST00000359350	Transcript	.	.	ENSG00000176895	15188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.19)	.	O51A7_HUMAN	OR51A7	HGNC	.	.	UPI0000041C23	SNV	OR51A7,missense_variant,p.Leu13Ile,ENST00000359350,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	37	62	26	SUCCESS
OR51G2	81282	.	GRCh37	11	4936808	4936808	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	74	1	ENST00000322013.3:c.86A>C	p.His29Pro	p.H29P	ENST00000322013	NM_001005238.1	29	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS31365.1	86	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGTGCATG	NONE	.	.	hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF133,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000322593	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322013	Transcript	.	.	ENSG00000176893	15198	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.943)	.	deleterious(0.01)	.	O51G2_HUMAN	OR51G2	HGNC	.	.	UPI0000041C2F	SNV	OR51G2,missense_variant,p.His29Pro,ENST00000322013,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	115	75	44	SUCCESS
RP11-707M1.1	0	.	GRCh37	11	49598125	49598125	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	43	121	0	ENST00000527477.1:n.729A>G		p.*243*	ENST00000527477				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCATTGAG	NONE	.	.	.	.	.	.	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000527477	Transcript	.	.	ENSG00000205035	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-707M1.1	Clone_based_vega_gene	.	.	.	SNV	RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000527477,;RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000534201,;RP11-707M1.1,non_coding_transcript_exon_variant,,ENST00000530858,;	729	121	121	SUCCESS
OR51A2	401667	.	GRCh37	11	4976050	4976050	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	133	166	0	ENST00000380371.1:c.894A>C	p.Lys298Asn	p.K298N	ENST00000380371	NM_001004748.1	298	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS31368.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGTTTAGT	NONE	.	.	hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000369729	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380371	Transcript	.	.	ENSG00000205496	14764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	deleterious(0.01)	.	O51A2_HUMAN	OR51A2	HGNC	.	.	UPI0000041B7B	SNV	OR51A2,missense_variant,p.Lys298Asn,ENST00000380371,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	894	166	149	SUCCESS
OR4A16	81327	.	GRCh37	11	55110910	55110910	+	synonymous_variant	Silent	SNP	A	A	G	rs201952971	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	40	76	0	ENST00000314721.2:c.234A>G	p.Lys78=	p.K78=	ENST00000314721	NM_001005274.1	78	aaA/aaG	0	G:0	.	.	.	.	G	K	protein_coding	YES	CCDS31499.1	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAATTGAT	NONE	byFrequency|byCluster	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF153,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	.	G:0.0001	ENSP00000325128	.	1/1	.	.	.	.	.	.	.	.	rs201952971	1/1	PASS	ENST00000314721	Transcript	.	.	ENSG00000181961	15153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O4A16_HUMAN	OR4A16	HGNC	.	.	UPI0000061EB2	SNV	OR4A16,synonymous_variant,p.%3D,ENST00000314721,;	284	76	72	SUCCESS
OR4A15	81328	.	GRCh37	11	55135489	55135489	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	67	0	ENST00000314706.3:c.130G>A	p.Gly44Arg	p.G44R	ENST00000314706	NM_001005275.1	44	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31500.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTAGGGCTC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	COSM1628041	1/1	PASS	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0)	1	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,missense_variant,p.Gly44Arg,ENST00000314706,;	130	67	63	SUCCESS
OR4A15	81328	.	GRCh37	11	55135678	55135678	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	42	0	ENST00000314706.3:c.319C>A	p.Pro107Thr	p.P107T	ENST00000314706	NM_001005275.1	107	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS31500.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTCCCAAA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,PROSITE_profiles:PS50262	.	.	ENSP00000325065	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314706	Transcript	.	.	ENSG00000181958	15152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	O4A15_HUMAN	OR4A15	HGNC	.	.	UPI000004618F	SNV	OR4A15,missense_variant,p.Pro107Thr,ENST00000314706,;	319	42	33	SUCCESS
OR4C6	219432	.	GRCh37	11	55433038	55433038	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	62	0	ENST00000314259.3:c.396C>T	p.Ile132=	p.I132=	ENST00000314259	NM_001004704.1	132	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31506.1	396	RADIA|MUTECT|MUSE	.	ACGATCATCAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF80,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000324769	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314259	Transcript	.	.	ENSG00000181903	14743	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR4C6_HUMAN	OR4C6	HGNC	.	.	UPI0000041868	SNV	OR4C6,synonymous_variant,p.%3D,ENST00000314259,;	425	62	65	SUCCESS
OR8I2	120586	.	GRCh37	11	55861466	55861466	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	62	0	ENST00000302124.2:c.683A>T	p.Gln228Leu	p.Q228L	ENST00000302124	NM_001003750.1	228	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS31517.1	683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCAGTCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000303864	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302124	Transcript	.	.	ENSG00000172154	15310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	deleterious(0.05)	.	OR8I2_HUMAN	OR8I2	HGNC	H0YLY8_HUMAN	.	UPI0000041D16	SNV	OR8I2,missense_variant,p.Gln228Leu,ENST00000302124,;OR8I4P,downstream_gene_variant,,ENST00000526965,;	714	62	72	SUCCESS
OR8J3	81168	.	GRCh37	11	55905003	55905003	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs760143517	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	105	0	ENST00000301529.1:c.192A>T	p.Arg64Ser	p.R64S	ENST00000301529	NM_001004064.1	64	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS31520.1	192	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGTCTCAG	BUFFER|p.F62F|c.186C>T|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000301529	.	1/1	.	.	.	.	.	.	.	.	rs760143517	1/1	PASS	ENST00000301529	Transcript	.	.	ENSG00000167822	15312	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.371)	.	tolerated(0.33)	.	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,missense_variant,p.Arg64Ser,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;OR8K4P,downstream_gene_variant,,ENST00000534608,;	192	105	76	SUCCESS
OR8K5	219453	.	GRCh37	11	55926969	55926969	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	104	0	ENST00000313447.1:c.825T>G	p.Ser275=	p.S275=	ENST00000313447	NM_001004058.2	275	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31521.1	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACAGAAGC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000323853	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313447	Transcript	.	.	ENSG00000181752	15315	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8K5_HUMAN	OR8K5	HGNC	.	.	UPI000004B231	SNV	OR8K5,synonymous_variant,p.%3D,ENST00000313447,;	825	104	91	SUCCESS
OR5J2	282775	.	GRCh37	11	55944226	55944226	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs201858818	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	33	73	0	ENST00000312298.1:c.133A>G	p.Met45Val	p.M45V	ENST00000312298	NM_001005492.1	45	Atg/Gtg	0	G:0	G:0	.	G:0	.	G	M/V	protein_coding	YES	CCDS31522.1	133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCATGATC	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF102,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G:0	G:0.0005	ENSP00000310788	G:0.001	1/1	.	.	.	.	.	.	.	.	rs201858818	1/1	common_in_exac	ENST00000312298	Transcript	.	G:0.0002	ENSG00000174957	19612	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	G:0	deleterious(0.01)	.	OR5J2_HUMAN	OR5J2	HGNC	.	.	UPI000004B232	SNV	OR5J2,missense_variant,p.Met45Val,ENST00000312298,;	133	73	67	SUCCESS
OR8K3	219473	.	GRCh37	11	56086359	56086359	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762706312	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	81	0	ENST00000312711.1:c.577C>A	p.His193Asn	p.H193N	ENST00000312711	NM_001005202.1	193	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS31527.1	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACACATGAA	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000323555	.	1/1	.	.	.	.	.	.	.	.	rs762706312	1/1	PASS	ENST00000312711	Transcript	.	.	ENSG00000181689	15313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated_low_confidence(0.06)	.	OR8K3_HUMAN	OR8K3	HGNC	.	.	UPI0000041BE7	SNV	OR8K3,missense_variant,p.His193Asn,ENST00000312711,;	577	81	73	SUCCESS
OR8K1	390157	.	GRCh37	11	56114284	56114284	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	98	0	ENST00000279783.2:c.770T>C	p.Phe257Ser	p.F257S	ENST00000279783	NM_001002907.1	257	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS31528.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTTCTATG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	COSM141951	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	1	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,missense_variant,p.Phe257Ser,ENST00000279783,;	864	98	62	SUCCESS
OR8K1	390157	.	GRCh37	11	56114424	56114424	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	47	0	ENST00000279783.2:c.910A>T	p.Lys304Ter	p.K304*	ENST00000279783	NM_001002907.1	304	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS31528.1	910	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTAAAAGAT	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000279783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000279783	Transcript	.	.	ENSG00000150261	14831	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8K1_HUMAN	OR8K1	HGNC	.	.	UPI0000041BC6	SNV	OR8K1,stop_gained,p.Lys304Ter,ENST00000279783,;	1004	47	41	SUCCESS
OR5AP2	338675	.	GRCh37	11	56409824	56409824	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	46	0	ENST00000302981.1:c.92G>T	p.Gly31Val	p.G31V	ENST00000302981	NM_001002925.1	31	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31534.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCCTTGT	NONE	.	.	hmmpanther:PTHR26452:SF151,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303111	.	1/1	.	.	.	.	.	.	.	.	COSM3869506	1/1	PASS	ENST00000302981	Transcript	.	.	ENSG00000172464	15258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated(1)	1	O5AP2_HUMAN	OR5AP2	HGNC	.	.	UPI0000061EE6	SNV	OR5AP2,missense_variant,p.Gly31Val,ENST00000302981,;OR5AP2,missense_variant,p.Gly32Val,ENST00000544374,;AP002517.1,downstream_gene_variant,,ENST00000584225,;	92	46	49	SUCCESS
OR9G1	390174	.	GRCh37	11	56468593	56468593	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	98	0	ENST00000312153.1:c.730C>A	p.Leu244Met	p.L244M	ENST00000312153	NM_001005213.1	244	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS31536.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTGACC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	deleterious(0.04)	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,missense_variant,p.Leu244Met,ENST00000312153,;	730	98	85	SUCCESS
OR9G1	390174	.	GRCh37	11	56468658	56468658	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	89	0	ENST00000312153.1:c.795T>G	p.Tyr265Ter	p.Y265*	ENST00000312153	NM_001005213.1	265	taT/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS31536.1	795	RADIA|MUTECT|MUSE	.	AGCTATTCTTT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR24242:SF158,hmmpanther:PTHR24242,PROSITE_profiles:PS50262	.	.	ENSP00000309012	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312153	Transcript	.	.	ENSG00000174914	15319	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR9G1_HUMAN	OR9G1	HGNC	.	.	UPI0000061E7E	SNV	OR9G1,stop_gained,p.Tyr265Ter,ENST00000312153,;	795	89	64	SUCCESS
OR52N5	390075	.	GRCh37	11	5799159	5799159	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	46	123	0	ENST00000317093.2:c.706A>T	p.Ser236Cys	p.S236C	ENST00000317093	NM_001001922.2	236	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS31397.1	706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGATCG	BUFFER|p.A234A|c.702G>A|3	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF18,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322866	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317093	Transcript	.	.	ENSG00000181009	15231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.04)	.	O52N5_HUMAN	OR52N5	HGNC	.	.	UPI0000041BF9	SNV	OR52N5,missense_variant,p.Ser236Cys,ENST00000317093,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	739	123	59	SUCCESS
OR5B3	441608	.	GRCh37	11	58170104	58170104	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754493667	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	50	0	ENST00000309403.2:c.779C>A	p.Pro260His	p.P260H	ENST00000309403	NM_001005469.1	260	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS31549.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGTTGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF15,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000308270	.	1/1	.	.	.	.	.	.	.	.	rs754493667	1/1	PASS	ENST00000309403	Transcript	.	.	ENSG00000172769	8324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	OR5B3_HUMAN	OR5B3	HGNC	.	.	UPI0000041DD0	SNV	OR5B3,missense_variant,p.Pro260His,ENST00000309403,;	779	50	45	SUCCESS
CD6	923	.	GRCh37	11	60739381	60739381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	33	0	ENST00000313421.7:c.44T>A	p.Leu15His	p.L15H	ENST00000313421	NM_006725.4	15	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS7999.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTCTCAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000323280	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000313421	Transcript	.	.	ENSG00000013725	1691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.711)	.	tolerated_low_confidence(0.09)	.	CD6_HUMAN	CD6	HGNC	.	.	UPI000013F532	SNV	CD6,missense_variant,p.Leu15His,ENST00000346437,;CD6,missense_variant,p.Leu15His,ENST00000452451,;CD6,missense_variant,p.Leu15His,ENST00000313421,;CD6,missense_variant,p.Leu15His,ENST00000344028,;CD6,missense_variant,p.Leu15His,ENST00000433107,;CD6,missense_variant,p.Leu15His,ENST00000542157,;CD6,missense_variant,p.Leu15His,ENST00000352009,;CD6,non_coding_transcript_exon_variant,,ENST00000545105,;CD6,non_coding_transcript_exon_variant,,ENST00000545320,;CD6,missense_variant,p.Leu15His,ENST00000542254,;CD6,missense_variant,p.Leu15His,ENST00000344931,;	230	33	20	SUCCESS
DDB1	1642	.	GRCh37	11	61091480	61091480	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs781342325	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	69	156	0	ENST00000301764.7:c.892A>T	p.Lys298Ter	p.K298*	ENST00000301764	NM_001923.4	298	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS31576.1	892	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTTGAGAG	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF3,Pfam_domain:PF10433	.	.	ENSP00000301764	.	7/27	.	.	.	.	.	.	.	.	rs781342325	7/27	PASS	ENST00000301764	Transcript	.	.	ENSG00000167986	2717	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDB1_HUMAN	DDB1	HGNC	F8WF81_HUMAN,F5H775_HUMAN,F5H6C5_HUMAN,F5H581_HUMAN,F5H2L3_HUMAN,F5H0Y5_HUMAN,F5GZY8_HUMAN,F5GZ34_HUMAN,F5GYG8_HUMAN	.	UPI0000000CB7	SNV	DDB1,stop_gained,p.Lys113Ter,ENST00000541513,;DDB1,stop_gained,p.Lys81Ter,ENST00000535174,;DDB1,stop_gained,p.Lys298Ter,ENST00000301764,;DDB1,intron_variant,,ENST00000450997,;DDB1,intron_variant,,ENST00000543658,;DDB1,downstream_gene_variant,,ENST00000539426,;DDB1,upstream_gene_variant,,ENST00000539739,;DDB1,upstream_gene_variant,,ENST00000537877,;DDB1,upstream_gene_variant,,ENST00000535967,;DDB1,non_coding_transcript_exon_variant,,ENST00000545930,;DDB1,downstream_gene_variant,,ENST00000543162,;DDB1,stop_gained,p.Lys298Ter,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000537120,;DDB1,non_coding_transcript_exon_variant,,ENST00000540784,;DDB1,non_coding_transcript_exon_variant,,ENST00000539712,;	1290	156	157	SUCCESS
CYB561A3	220002	.	GRCh37	11	61124109	61124109	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	42	84	0	ENST00000294072.4:c.77A>T	p.Tyr26Phe	p.Y26F	ENST00000294072	NM_153611.4	26	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS53639.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTAGATA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10106,hmmpanther:PTHR10106:SF2,PROSITE_profiles:PS50939	.	.	ENSP00000398979	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000426130	Transcript	.	.	ENSG00000162144	23014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.32)	.	CYAC3_HUMAN	CYB561A3	HGNC	F5H684_HUMAN,F5H5Y9_HUMAN,F5H5L0_HUMAN,F5H121_HUMAN,F5H0P5_HUMAN,F5GX87_HUMAN	.	UPI0000EE44D0	SNV	CYB561A3,missense_variant,p.Tyr26Phe,ENST00000537364,;CYB561A3,missense_variant,p.Tyr43Phe,ENST00000426130,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000545361,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000294072,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000546151,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000537680,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000542361,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000536915,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000539128,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000447532,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000539890,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000544118,;DAK,downstream_gene_variant,,ENST00000534084,;CYB561A3,upstream_gene_variant,,ENST00000540139,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000538263,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000536687,;CYB561A3,intron_variant,,ENST00000540317,;CYB561A3,downstream_gene_variant,,ENST00000535152,;CYB561A3,missense_variant,p.Tyr26Phe,ENST00000540755,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000535177,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000542411,;	908	84	83	SUCCESS
RPLP0P2	113157	.	GRCh37	11	61404704	61404704	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	81	0	ENST00000496593.1:n.1308T>A		p.*436*	ENST00000496593				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTCTGGG	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000496593	Transcript	.	.	ENSG00000243742	17960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RPLP0P2	HGNC	.	.	.	SNV	RPLP0P2,non_coding_transcript_exon_variant,,ENST00000496593,;RPLP0P2,downstream_gene_variant,,ENST00000475561,;RPLP0P2,downstream_gene_variant,,ENST00000492786,;RPLP0P2,downstream_gene_variant,,ENST00000475331,;RPLP0P2,downstream_gene_variant,,ENST00000478959,;RPLP0P2,non_coding_transcript_exon_variant,,ENST00000490750,;	1308	81	58	SUCCESS
AHNAK	79026	.	GRCh37	11	62285505	62285505	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	82	0	ENST00000378024.4:c.16384A>G	p.Lys5462Glu	p.K5462E	ENST00000378024	NM_001620.2	5462	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS31584.1	16384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTCACTT	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Lys5462Glu,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	16659	82	74	SUCCESS
AHNAK	79026	.	GRCh37	11	62288328	62288328	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753174864	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	104	0	ENST00000378024.4:c.13561A>G	p.Met4521Val	p.M4521V	ENST00000378024	NM_001620.2	4521	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS31584.1	13561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCATGGAGA	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Met4521Val,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	13836	104	96	SUCCESS
AHNAK	79026	.	GRCh37	11	62289734	62289734	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748413979	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	76	0	ENST00000378024.4:c.12155A>G	p.His4052Arg	p.H4052R	ENST00000378024	NM_001620.2	4052	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS31584.1	12155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCATGAACA	NONE	byFrequency	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	rs748413979	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.His4052Arg,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	12430	76	64	SUCCESS
B3GAT3	26229	.	GRCh37	11	62384649	62384649	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	52	0	ENST00000265471.5:c.428A>T	p.Gln143Leu	p.Q143L	ENST00000265471	NM_012200.3	143	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS8025.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCTGGGCT	NONE	.	.	hmmpanther:PTHR10896:SF9,hmmpanther:PTHR10896,Pfam_domain:PF03360,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000265471	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000265471	Transcript	.	.	ENSG00000149541	923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.5)	.	B3GA3_HUMAN	B3GAT3	HGNC	.	.	UPI000006F88E	SNV	B3GAT3,missense_variant,p.Gln143Leu,ENST00000534026,;B3GAT3,missense_variant,p.Gln143Leu,ENST00000265471,;B3GAT3,missense_variant,p.Gln143Leu,ENST00000531383,;B3GAT3,missense_variant,p.Gln166Leu,ENST00000534715,;ROM1,downstream_gene_variant,,ENST00000278833,;EML3,upstream_gene_variant,,ENST00000278845,;ROM1,downstream_gene_variant,,ENST00000525801,;EML3,upstream_gene_variant,,ENST00000394773,;EML3,upstream_gene_variant,,ENST00000419857,;EML3,upstream_gene_variant,,ENST00000529309,;ROM1,downstream_gene_variant,,ENST00000534093,;EML3,upstream_gene_variant,,ENST00000466671,;ROM1,downstream_gene_variant,,ENST00000525947,;EML3,upstream_gene_variant,,ENST00000466886,;ROM1,downstream_gene_variant,,ENST00000529273,;B3GAT3,3_prime_UTR_variant,,ENST00000532585,;B3GAT3,non_coding_transcript_exon_variant,,ENST00000533303,;EML3,upstream_gene_variant,,ENST00000494448,;	656	52	43	SUCCESS
SLC22A8	9376	.	GRCh37	11	62763203	62763203	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749148432	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	93	0	ENST00000336232.2:c.974G>A	p.Arg325His	p.R325H	ENST00000336232	NM_001184736.1	325	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8042.1	974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGCGGCGC	NONE	byFrequency	.	Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	.	.	ENSP00000337335	.	7/11	.	.	.	.	.	.	.	.	rs749148432	7/11	PASS	ENST00000336232	Transcript	.	.	ENSG00000149452	10972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.16)	.	S22A8_HUMAN	SLC22A8	HGNC	.	.	UPI0000036DF2	SNV	SLC22A8,missense_variant,p.Arg202His,ENST00000535878,;SLC22A8,missense_variant,p.Arg325His,ENST00000336232,;SLC22A8,missense_variant,p.Arg325His,ENST00000430500,;SLC22A8,missense_variant,p.Arg325His,ENST00000311438,;SLC22A8,missense_variant,p.Arg234His,ENST00000545207,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,downstream_gene_variant,,ENST00000542904,;SLC22A8,upstream_gene_variant,,ENST00000451262,;	1110	93	61	SUCCESS
SLC22A12	116085	.	GRCh37	11	64359432	64359432	+	splice_donor_variant	Splice_Site	SNP	T	T	A	rs749608127	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	28	0	ENST00000377574.1:c.402+2T>A		p.X134_splice	ENST00000377574	NM_144585.3	134		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8075.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTAGGGC	NONE	.	.	.	.	.	ENSP00000366797	.	.	.	.	.	.	.	.	.	.	rs749608127	.	PASS	ENST00000377574	Transcript	.	.	ENSG00000197891	17989	.	.	HIGH	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AC_HUMAN	SLC22A12	HGNC	G3XAN7_HUMAN	.	UPI0000040C17	SNV	SLC22A12,splice_donor_variant,,ENST00000473690,;SLC22A12,splice_donor_variant,,ENST00000377574,;SLC22A12,splice_donor_variant,,ENST00000336464,;SLC22A12,splice_donor_variant,,ENST00000377567,;SLC22A12,splice_donor_variant,,ENST00000377572,;	.	28	19	SUCCESS
SF1	7536	.	GRCh37	11	64536751	64536751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	124	0	ENST00000377390.3:c.723G>T	p.Lys241Asn	p.K241N	ENST00000377390	NM_004630.3	241	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS53661.1	1098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCTTCCG	NONE	.	.	hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791	.	.	ENSP00000366604	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000377387	Transcript	.	.	ENSG00000168066	12950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	SF01_HUMAN	SF1	HGNC	Q14821_HUMAN,C9J792_HUMAN,B4DX42_HUMAN	.	UPI0000074300	SNV	SF1,missense_variant,p.Lys241Asn,ENST00000227503,;SF1,missense_variant,p.Lys241Asn,ENST00000377390,;SF1,missense_variant,p.Lys126Asn,ENST00000422298,;SF1,missense_variant,p.Lys241Asn,ENST00000377394,;SF1,missense_variant,p.Lys241Asn,ENST00000334944,;SF1,missense_variant,p.Lys366Asn,ENST00000377387,;SF1,missense_variant,p.Lys215Asn,ENST00000433274,;SF1,upstream_gene_variant,,ENST00000443908,;SF1,downstream_gene_variant,,ENST00000432725,;SF1,upstream_gene_variant,,ENST00000486867,;SF1,upstream_gene_variant,,ENST00000413725,;SF1,non_coding_transcript_exon_variant,,ENST00000489544,;SF1,downstream_gene_variant,,ENST00000496969,;SF1,3_prime_UTR_variant,,ENST00000448404,;SF1,non_coding_transcript_exon_variant,,ENST00000486960,;SF1,upstream_gene_variant,,ENST00000477596,;SF1,downstream_gene_variant,,ENST00000482693,;SF1,downstream_gene_variant,,ENST00000413951,;	1175	124	119	SUCCESS
CDC42BPG	55561	.	GRCh37	11	64601242	64601242	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	39	0	ENST00000342711.5:c.2533A>T	p.Arg845Trp	p.R845W	ENST00000342711	NM_017525.2	845	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31601.1	2533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCTCAGAT	NONE	.	.	hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22	.	.	ENSP00000345133	.	22/37	.	.	.	.	.	.	.	.	.	22/37	PASS	ENST00000342711	Transcript	.	.	ENSG00000171219	29829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	MRCKG_HUMAN	CDC42BPG	HGNC	.	.	UPI000047C9E2	SNV	CDC42BPG,missense_variant,p.Arg845Trp,ENST00000342711,;CDC42BPG,non_coding_transcript_exon_variant,,ENST00000468512,;CDC42BPG,upstream_gene_variant,,ENST00000491280,;CDC42BPG,non_coding_transcript_exon_variant,,ENST00000480767,;	2533	39	26	SUCCESS
PPP2R5B	5526	.	GRCh37	11	64699068	64699068	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	56	0	ENST00000164133.2:c.983G>C	p.Cys328Ser	p.C328S	ENST00000164133	NM_006244.3	328	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS8085.1	983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTGCACCC	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF028043,Pfam_domain:PF01603,hmmpanther:PTHR10257:SF4,hmmpanther:PTHR10257	.	.	ENSP00000164133	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000164133	Transcript	.	.	ENSG00000068971	9310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	tolerated(0.87)	.	2A5B_HUMAN	PPP2R5B	HGNC	E9PQN5_HUMAN,E9PNY3_HUMAN	.	UPI000000DAF4	SNV	PPP2R5B,missense_variant,p.Cys328Ser,ENST00000164133,;PPP2R5B,downstream_gene_variant,,ENST00000532850,;GPHA2,downstream_gene_variant,,ENST00000533257,;PPP2R5B,downstream_gene_variant,,ENST00000526559,;GPHA2,downstream_gene_variant,,ENST00000532246,;GPHA2,downstream_gene_variant,,ENST00000279168,;PPP2R5B,downstream_gene_variant,,ENST00000528530,;	1605	56	44	SUCCESS
DRAP1	10589	.	GRCh37	11	65688799	65688799	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs750391264	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	74	150	0	ENST00000312515.2:c.513-2A>T		p.X171_splice	ENST00000312515	NM_006442.3	171		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8123.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCCCC	NONE	.	.	.	.	.	ENSP00000307850	.	.	.	.	.	.	.	.	.	.	rs750391264	.	PASS	ENST00000312515	Transcript	.	.	ENSG00000175550	3019	.	.	HIGH	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NC2A_HUMAN	DRAP1	HGNC	E9PQX9_HUMAN	.	UPI00000725D1	SNV	DRAP1,splice_acceptor_variant,,ENST00000376991,;DRAP1,splice_acceptor_variant,,ENST00000525501,;DRAP1,splice_acceptor_variant,,ENST00000532933,;DRAP1,splice_acceptor_variant,,ENST00000527119,;DRAP1,splice_acceptor_variant,,ENST00000312515,;C11orf68,upstream_gene_variant,,ENST00000449692,;C11orf68,upstream_gene_variant,,ENST00000530188,;C11orf68,upstream_gene_variant,,ENST00000438576,;DRAP1,splice_acceptor_variant,,ENST00000534333,;DRAP1,splice_acceptor_variant,,ENST00000530791,;DRAP1,non_coding_transcript_exon_variant,,ENST00000525190,;DRAP1,downstream_gene_variant,,ENST00000531121,;	.	150	138	SUCCESS
KLC2	64837	.	GRCh37	11	66030441	66030441	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	11	79	0	ENST00000316924.5:c.686A>G	p.Glu229Gly	p.E229G	ENST00000316924	NM_022822.2	229	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8130.1	686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAGAAGA	NONE	.	.	Prints_domain:PR00381,Superfamily_domains:SSF48452,Pfam_domain:PF09311,Gene3D:1.25.40.10,PROSITE_patterns:PS01160,hmmpanther:PTHR19959:SF126,hmmpanther:PTHR19959,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000399403	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000417856	Transcript	.	.	ENSG00000174996	20716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	KLC2_HUMAN	KLC2	HGNC	E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN	.	UPI0000001645	SNV	KLC2,missense_variant,p.Glu229Gly,ENST00000417856,;KLC2,missense_variant,p.Glu229Gly,ENST00000394078,;KLC2,missense_variant,p.Glu152Gly,ENST00000394066,;KLC2,missense_variant,p.Glu152Gly,ENST00000421552,;KLC2,missense_variant,p.Glu90Gly,ENST00000394065,;KLC2,missense_variant,p.Glu229Gly,ENST00000394067,;KLC2,missense_variant,p.Glu152Gly,ENST00000461611,;KLC2,missense_variant,p.Glu229Gly,ENST00000316924,;KLC2,downstream_gene_variant,,ENST00000531240,;KLC2,downstream_gene_variant,,ENST00000526758,;KLC2,downstream_gene_variant,,ENST00000440228,;KLC2,downstream_gene_variant,,ENST00000475757,;RP11-755F10.3,upstream_gene_variant,,ENST00000533576,;RP11-867G23.2,downstream_gene_variant,,ENST00000533287,;RP11-867G23.1,downstream_gene_variant,,ENST00000530805,;KLC2,non_coding_transcript_exon_variant,,ENST00000534023,;KLC2,downstream_gene_variant,,ENST00000483152,;	929	79	62	SUCCESS
DPP3	10072	.	GRCh37	11	66258740	66258740	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	148	0	ENST00000541961.1:c.684T>C	p.Ser228=	p.S228=	ENST00000541961		228	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS8141.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCTGAGGT	NONE	.	.	hmmpanther:PTHR23422,hmmpanther:PTHR23422:SF10,Pfam_domain:PF03571,PIRSF_domain:PIRSF007828	.	.	ENSP00000353701	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000360510	Transcript	.	.	ENSG00000254986	3008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP3_HUMAN	DPP3	HGNC	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN	.	UPI000012983B	SNV	DPP3,synonymous_variant,p.%3D,ENST00000360510,;DPP3,synonymous_variant,p.%3D,ENST00000530165,;DPP3,synonymous_variant,p.%3D,ENST00000532677,;DPP3,synonymous_variant,p.%3D,ENST00000453114,;DPP3,synonymous_variant,p.%3D,ENST00000541961,;DPP3,synonymous_variant,p.%3D,ENST00000531863,;DPP3,synonymous_variant,p.%3D,ENST00000533725,;DPP3,downstream_gene_variant,,ENST00000532019,;DPP3,downstream_gene_variant,,ENST00000526515,;DPP3,downstream_gene_variant,,ENST00000531354,;DPP3,downstream_gene_variant,,ENST00000544603,;DPP3,upstream_gene_variant,,ENST00000533799,;DPP3,upstream_gene_variant,,ENST00000525738,;DPP3,downstream_gene_variant,,ENST00000531272,;DPP3,upstream_gene_variant,,ENST00000526250,;DPP3,upstream_gene_variant,,ENST00000526667,;	749	148	96	SUCCESS
DCHS1	8642	.	GRCh37	11	6644033	6644033	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	20	65	0	ENST00000299441.3:c.8874A>T	p.Leu2958=	p.L2958=	ENST00000299441	NM_003737.2	2958	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7771.1	8874	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTAGGAC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027	.	.	ENSP00000299441	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,synonymous_variant,p.%3D,ENST00000299441,;TPP1,upstream_gene_variant,,ENST00000436873,;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000299427,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528917,;TPP1,upstream_gene_variant,,ENST00000428886,;	9286	65	24	SUCCESS
DCHS1	8642	.	GRCh37	11	6653396	6653396	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	26	54	0	ENST00000299441.3:c.3347A>T	p.Glu1116Val	p.E1116V	ENST00000299441	NM_003737.2	1116	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS7771.1	3347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTCAGCC	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000299441	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000299441	Transcript	.	.	ENSG00000166341	13681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PCD16_HUMAN	DCHS1	HGNC	.	.	UPI00001313B6	SNV	DCHS1,missense_variant,p.Glu1116Val,ENST00000299441,;RP11-732A19.6,intron_variant,,ENST00000526633,;	3759	54	27	SUCCESS
OR6A2	8590	.	GRCh37	11	6816315	6816315	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	18	43	0	ENST00000332601.3:c.625A>G	p.Ile209Val	p.I209V	ENST00000332601	NM_003696.2	209	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS7772.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAATGGCCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF234,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330384	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332601	Transcript	.	.	ENSG00000184933	15301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.525)	.	deleterious(0.04)	.	OR6A2_HUMAN	OR6A2	HGNC	.	.	UPI0000061E92	SNV	OR6A2,missense_variant,p.Ile209Val,ENST00000332601,;	814	43	21	SUCCESS
RNF121	55298	.	GRCh37	11	71705854	71705854	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	60	1	ENST00000361756.3:c.717A>G	p.Glu239=	p.E239=	ENST00000361756	NM_018320.4	239	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS8203.1	717	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAAGAGGG	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR13407,hmmpanther:PTHR13407:SF1,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000354571	.	7/9	.	.	.	.	.	.	.	.	COSM4036412	7/9	PASS	ENST00000361756	Transcript	.	.	ENSG00000137522	21070	.	.	LOW	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	RN121_HUMAN	RNF121	HGNC	Q9NUW5_HUMAN,E9PLR7_HUMAN,B3KSW8_HUMAN,A0PJP0_HUMAN	.	UPI000006FB75	SNV	RNF121,synonymous_variant,p.%3D,ENST00000361756,;RNF121,synonymous_variant,p.%3D,ENST00000530137,;RNF121,synonymous_variant,p.%3D,ENST00000533380,;RNF121,synonymous_variant,p.%3D,ENST00000545854,;RNF121,intron_variant,,ENST00000393713,;IL18BP,upstream_gene_variant,,ENST00000393705,;IL18BP,upstream_gene_variant,,ENST00000497194,;IL18BP,upstream_gene_variant,,ENST00000404792,;IL18BP,upstream_gene_variant,,ENST00000260049,;IL18BP,upstream_gene_variant,,ENST00000531053,;IL18BP,upstream_gene_variant,,ENST00000393703,;IL18BP,upstream_gene_variant,,ENST00000337131,;IL18BP,upstream_gene_variant,,ENST00000531777,;IL18BP,upstream_gene_variant,,ENST00000414358,;RNF121,downstream_gene_variant,,ENST00000525176,;IL18BP,upstream_gene_variant,,ENST00000525932,;RNF121,downstream_gene_variant,,ENST00000490867,;RNF121,3_prime_UTR_variant,,ENST00000525243,;RNF121,3_prime_UTR_variant,,ENST00000526549,;RNF121,3_prime_UTR_variant,,ENST00000530655,;IL18BP,upstream_gene_variant,,ENST00000534583,;RNF121,downstream_gene_variant,,ENST00000528683,;RNF121,downstream_gene_variant,,ENST00000530058,;RNF121,upstream_gene_variant,,ENST00000532379,;IL18BP,upstream_gene_variant,,ENST00000343898,;	1078	62	45	SUCCESS
FOLR1	2348	.	GRCh37	11	71907162	71907162	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	94	0	ENST00000312293.4:c.715T>A	p.Trp239Arg	p.W239R	ENST00000312293	NM_016725.2	239	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS8211.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTGGGCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10517:SF15,hmmpanther:PTHR10517	.	.	ENSP00000377284	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000393679	Transcript	.	.	ENSG00000110195	3791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.44)	.	FOLR1_HUMAN	FOLR1	HGNC	Q9NP04_HUMAN,Q96QD1_HUMAN,Q6LDL1_HUMAN	.	UPI0000000C4C	SNV	FOLR1,missense_variant,p.Trp239Arg,ENST00000393679,;FOLR1,missense_variant,p.Trp239Arg,ENST00000393676,;FOLR1,missense_variant,p.Trp239Arg,ENST00000312293,;FOLR1,missense_variant,p.Trp239Arg,ENST00000393681,;RP11-807H22.7,intron_variant,,ENST00000378140,;	1151	94	78	SUCCESS
ATG16L2	89849	.	GRCh37	11	72538273	72538273	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	84	0	ENST00000321297.5:c.1407G>T	p.Val469=	p.V469=	ENST00000321297	NM_033388.1	469	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31634.1	1407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTGGTGTG	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19878:SF2,hmmpanther:PTHR19878,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000326340	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000321297	Transcript	.	.	ENSG00000168010	25464	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A16L2_HUMAN	ATG16L2	HGNC	F5H7B6_HUMAN	.	UPI0000140B06	SNV	ATG16L2,synonymous_variant,p.%3D,ENST00000541367,;ATG16L2,synonymous_variant,p.%3D,ENST00000321297,;ATG16L2,synonymous_variant,p.%3D,ENST00000538973,;ATG16L2,synonymous_variant,p.%3D,ENST00000540222,;ATG16L2,synonymous_variant,p.%3D,ENST00000535830,;ATG16L2,intron_variant,,ENST00000541554,;ATG16L2,intron_variant,,ENST00000534905,;ATG16L2,3_prime_UTR_variant,,ENST00000544490,;ATG16L2,3_prime_UTR_variant,,ENST00000435507,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000536995,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000439504,;ATG16L2,downstream_gene_variant,,ENST00000537212,;ATG16L2,downstream_gene_variant,,ENST00000542908,;ATG16L2,downstream_gene_variant,,ENST00000542481,;ATG16L2,downstream_gene_variant,,ENST00000545248,;ATG16L2,downstream_gene_variant,,ENST00000537837,;ATG16L2,downstream_gene_variant,,ENST00000537143,;ATG16L2,downstream_gene_variant,,ENST00000541999,;	1545	84	63	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73066691	73066691	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	55	0	ENST00000263674.3:c.3567A>G	p.Leu1189=	p.L1189=	ENST00000263674	NM_014786.3	1189	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS8221.1	3567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAGAGGT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000263674	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,synonymous_variant,p.%3D,ENST00000263674,;AP002761.1,upstream_gene_variant,,ENST00000582555,;ARHGEF17,downstream_gene_variant,,ENST00000536170,;ARHGEF17,upstream_gene_variant,,ENST00000537198,;	3917	55	49	SUCCESS
OR2AT4	341152	.	GRCh37	11	74800166	74800166	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs771408022	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	54	0	ENST00000305159.3:c.593C>T	p.Thr198Ile	p.T198I	ENST00000305159	NM_001005285.1	198	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31639.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGTGGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF15,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304846	.	1/1	.	.	.	.	.	.	.	.	rs771408022	1/1	PASS	ENST00000305159	Transcript	.	.	ENSG00000171561	19620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	tolerated(0.17)	.	O2AT4_HUMAN	OR2AT4	HGNC	.	.	UPI0000061FA5	SNV	OR2AT4,missense_variant,p.Thr198Ile,ENST00000305159,;	634	54	52	SUCCESS
KLHL35	283212	.	GRCh37	11	75139660	75139660	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	34	0	ENST00000539798.1:c.893T>C	p.Leu298Pro	p.L298P	ENST00000539798	NM_001039548.2	298	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS44685.2	893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTAGGTCC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037	.	.	ENSP00000438526	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000539798	Transcript	.	.	ENSG00000149243	26597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.17)	.	.	KLHL35	HGNC	F5H412_HUMAN	.	UPI0001B723C7	SNV	KLHL35,missense_variant,p.Leu78Pro,ENST00000376292,;KLHL35,missense_variant,p.Leu298Pro,ENST00000539798,;KLHL35,non_coding_transcript_exon_variant,,ENST00000460787,;KLHL35,upstream_gene_variant,,ENST00000527491,;	893	34	28	SUCCESS
MYO7A	4647	.	GRCh37	11	76903162	76903162	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	53	122	0	ENST00000409709.3:c.3991A>T	p.Lys1331Ter	p.K1331*	ENST00000409709	NM_000260.3	1331	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS53683.1	3991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCAAGGAG	NONE	.	.	PROSITE_profiles:PS50057,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236	.	.	ENSP00000386331	.	31/49	.	.	.	.	.	.	.	.	COSM932147	31/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,stop_gained,p.Lys512Ter,ENST00000458169,;MYO7A,stop_gained,p.Lys1320Ter,ENST00000409619,;MYO7A,stop_gained,p.Lys1331Ter,ENST00000409709,;MYO7A,stop_gained,p.Lys1331Ter,ENST00000458637,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,downstream_gene_variant,,ENST00000467137,;	4263	122	102	SUCCESS
TENM4	26011	.	GRCh37	11	78614413	78614413	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	32	0	ENST00000278550.7:c.649G>C	p.Asp217His	p.D217H	ENST00000278550	NM_001098816.2	217	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS44688.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTCCGTGG	NONE	.	.	Pfam_domain:PF06484,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219,PROSITE_profiles:PS51361	.	.	ENSP00000278550	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000278550	Transcript	.	.	ENSG00000149256	29945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	tolerated_low_confidence(0.12)	.	TEN4_HUMAN	TENM4	HGNC	G3CAT1_HUMAN	.	UPI0000DD8112	SNV	TENM4,missense_variant,p.Asp217His,ENST00000278550,;TENM4,missense_variant,p.Asp62His,ENST00000533074,;TENM4,non_coding_transcript_exon_variant,,ENST00000533013,;	1112	32	17	SUCCESS
PIDD	0	.	GRCh37	11	801093	801093	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	13	58	0	ENST00000347755.5:c.1658A>T	p.His553Leu	p.H553L	ENST00000347755	NM_145886.3	553	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS7716.1	1658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGTGCAGG	NONE	.	.	PROSITE_profiles:PS51145	.	.	ENSP00000337797	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000347755	Transcript	.	.	ENSG00000177595	16491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.317)	.	deleterious(0.01)	.	PIDD_HUMAN	PIDD	HGNC	.	.	UPI000045644A	SNV	PIDD,missense_variant,p.His553Leu,ENST00000347755,;PIDD,missense_variant,p.His553Leu,ENST00000411829,;SLC25A22,upstream_gene_variant,,ENST00000528606,;SLC25A22,upstream_gene_variant,,ENST00000532484,;SLC25A22,upstream_gene_variant,,ENST00000531214,;SLC25A22,upstream_gene_variant,,ENST00000320230,;SLC25A22,upstream_gene_variant,,ENST00000530360,;SLC25A22,upstream_gene_variant,,ENST00000531514,;SLC25A22,upstream_gene_variant,,ENST00000531437,;PIDD,intron_variant,,ENST00000527812,;PIDD,downstream_gene_variant,,ENST00000528122,;PIDD,downstream_gene_variant,,ENST00000530911,;PIDD,downstream_gene_variant,,ENST00000534649,;PIDD,missense_variant,p.His270Leu,ENST00000531286,;PIDD,3_prime_UTR_variant,,ENST00000525028,;PIDD,3_prime_UTR_variant,,ENST00000524486,;PIDD,non_coding_transcript_exon_variant,,ENST00000534525,;PIDD,non_coding_transcript_exon_variant,,ENST00000527357,;SLC25A22,upstream_gene_variant,,ENST00000532361,;SLC25A22,upstream_gene_variant,,ENST00000529351,;SLC25A22,upstream_gene_variant,,ENST00000532459,;	1800	58	20	SUCCESS
TUB	7275	.	GRCh37	11	8111646	8111646	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs533066502	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	166	0	ENST00000299506.2:c.121A>T	p.Lys41Ter	p.K41*	ENST00000299506	NM_177972.2	41	Aag/Tag	0	.	C:0	.	C:0	.	T	K/*	protein_coding	YES	CCDS7786.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGAAGCGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16517:SF20,hmmpanther:PTHR16517,Prints_domain:PR01574	C:0.002	.	ENSP00000305426	C:0	4/13	.	.	.	.	.	.	.	.	rs533066502	4/13	PASS	ENST00000305253	Transcript	.	C:0.0004	ENSG00000166402	12406	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	TUB_HUMAN	TUB	HGNC	Q9H4D2_HUMAN	.	UPI000013EA27	SNV	TUB,stop_gained,p.Lys47Ter,ENST00000534099,;TUB,stop_gained,p.Lys41Ter,ENST00000299506,;TUB,stop_gained,p.Lys96Ter,ENST00000305253,;	527	166	77	SUCCESS
SYTL2	54843	.	GRCh37	11	85436399	85436399	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	28	56	0	ENST00000528231.1:c.1459+2540C>A		p.*487*	ENST00000528231	NM_001162951.1	367		0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31651.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGGGAAA	NONE	.	.	hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024	.	.	ENSP00000346576	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000354566	Transcript	.	.	ENSG00000137501	15585	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTL2_HUMAN	SYTL2	HGNC	Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN	.	UPI0000352C78	SNV	SYTL2,synonymous_variant,p.%3D,ENST00000359152,;SYTL2,synonymous_variant,p.%3D,ENST00000525423,;SYTL2,synonymous_variant,p.%3D,ENST00000354566,;SYTL2,intron_variant,,ENST00000528231,;SYTL2,intron_variant,,ENST00000389960,;SYTL2,intron_variant,,ENST00000527523,;SYTL2,intron_variant,,ENST00000524452,;SYTL2,intron_variant,,ENST00000316356,;SYTL2,upstream_gene_variant,,ENST00000530351,;SYTL2,synonymous_variant,p.%3D,ENST00000389959,;	1113	56	51	SUCCESS
CCDC81	60494	.	GRCh37	11	86103710	86103710	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	34	123	0	ENST00000445632.2:c.426A>T	p.Gln142His	p.Q142H	ENST00000445632	NM_001156474.1	142	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS53691.1	426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACAAAATGT	NONE	.	.	Pfam_domain:PF14908,hmmpanther:PTHR14362,hmmpanther:PTHR14362:SF2	.	.	ENSP00000415528	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000445632	Transcript	.	.	ENSG00000149201	26281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	deleterious(0.01)	.	CCD81_HUMAN	CCDC81	HGNC	B4DQN0_HUMAN	.	UPI0000E5BE97	SNV	CCDC81,missense_variant,p.Gln142His,ENST00000445632,;CCDC81,5_prime_UTR_variant,,ENST00000278487,;CCDC81,intron_variant,,ENST00000531271,;CCDC81,intron_variant,,ENST00000354755,;CCDC81,upstream_gene_variant,,ENST00000528728,;CCDC81,upstream_gene_variant,,ENST00000530845,;CCDC81,upstream_gene_variant,,ENST00000529603,;CCDC81,upstream_gene_variant,,ENST00000532215,;CCDC81,upstream_gene_variant,,ENST00000532466,;	698	123	101	SUCCESS
CCDC81	60494	.	GRCh37	11	86108753	86108753	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	41	0	ENST00000445632.2:c.726A>T	p.Lys242Asn	p.K242N	ENST00000445632	NM_001156474.1	242	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS53691.1	726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAAGACCA	NONE	.	.	hmmpanther:PTHR14362,hmmpanther:PTHR14362:SF2	.	.	ENSP00000415528	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000445632	Transcript	.	.	ENSG00000149201	26281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.14)	.	CCD81_HUMAN	CCDC81	HGNC	B4DQN0_HUMAN	.	UPI0000E5BE97	SNV	CCDC81,missense_variant,p.Lys25Asn,ENST00000528728,;CCDC81,missense_variant,p.Lys242Asn,ENST00000445632,;CCDC81,missense_variant,p.Lys25Asn,ENST00000278487,;CCDC81,missense_variant,p.Lys152Asn,ENST00000354755,;CCDC81,downstream_gene_variant,,ENST00000531271,;CCDC81,non_coding_transcript_exon_variant,,ENST00000529603,;CCDC81,intron_variant,,ENST00000530845,;CCDC81,intron_variant,,ENST00000532215,;CCDC81,intron_variant,,ENST00000532466,;	998	41	37	SUCCESS
CTSC	1075	.	GRCh37	11	88042455	88042455	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	67	0	ENST00000227266.5:c.517A>T	p.Asn173Tyr	p.N173Y	ENST00000227266	NM_001814.4	173	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS8282.1	517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTGTGAT	NONE	.	.	Superfamily_domains:SSF54001,Gene3D:3.90.70.10,hmmpanther:PTHR12411:SF314,hmmpanther:PTHR12411	.	.	ENSP00000227266	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000227266	Transcript	.	.	ENSG00000109861	2528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	deleterious(0)	.	CATC_HUMAN	CTSC	HGNC	I3V9T0_HUMAN	.	UPI000006D22D	SNV	CTSC,missense_variant,p.Asn130Tyr,ENST00000527018,;CTSC,missense_variant,p.Asn173Tyr,ENST00000227266,;CTSC,non_coding_transcript_exon_variant,,ENST00000533865,;	632	67	53	SUCCESS
GRM5	2915	.	GRCh37	11	88742219	88742219	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	69	266	0	ENST00000305447.4:c.661+38161A>T		p.*221*	ENST00000305447	NM_001143831.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44694.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACATCAATG	NONE	.	.	.	.	.	ENSP00000402912	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,missense_variant,p.Met70Leu,ENST00000449371,;GRM5,missense_variant,p.Met237Leu,ENST00000393294,;GRM5,intron_variant,,ENST00000305447,;GRM5,intron_variant,,ENST00000393297,;GRM5,intron_variant,,ENST00000305432,;GRM5,intron_variant,,ENST00000418177,;GRM5,intron_variant,,ENST00000455756,;	.	266	205	SUCCESS
NOX4	50507	.	GRCh37	11	89069089	89069089	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	93	239	1	ENST00000263317.4:c.1540G>C	p.Ala514Pro	p.A514P	ENST00000263317		514	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS8285.1	1540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCATGAT	NONE	.	.	hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	.	.	ENSP00000263317	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000263317	Transcript	.	.	ENSG00000086991	7891	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.27)	.	NOX4_HUMAN	NOX4	HGNC	E7EMD7_HUMAN	.	UPI000045655B	SNV	NOX4,missense_variant,p.Ala207Pro,ENST00000375979,;NOX4,missense_variant,p.Ala490Pro,ENST00000535633,;NOX4,missense_variant,p.Ala490Pro,ENST00000527956,;NOX4,missense_variant,p.Ala490Pro,ENST00000542487,;NOX4,missense_variant,p.Ala490Pro,ENST00000343727,;NOX4,missense_variant,p.Ala535Pro,ENST00000413594,;NOX4,missense_variant,p.Ala450Pro,ENST00000532825,;NOX4,missense_variant,p.Ala167Pro,ENST00000531342,;NOX4,missense_variant,p.Ala327Pro,ENST00000527626,;NOX4,missense_variant,p.Ala474Pro,ENST00000534731,;NOX4,missense_variant,p.Ala514Pro,ENST00000263317,;NOX4,missense_variant,p.Ala278Pro,ENST00000525196,;NOX4,missense_variant,p.Ala489Pro,ENST00000528341,;NOX4,missense_variant,p.Ala490Pro,ENST00000424319,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000524473,;	1779	240	218	SUCCESS
NAALAD2	10003	.	GRCh37	11	89907042	89907042	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	42	93	0	ENST00000534061.1:c.1461G>T	p.Trp487Cys	p.W487C	ENST00000534061	NM_005467.3	487	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS8288.1	1461	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGTTGGA	NONE	.	.	Superfamily_domains:SSF53187,Pfam_domain:PF04389,Gene3D:3.40.630.10,hmmpanther:PTHR10404:SF38,hmmpanther:PTHR10404	.	.	ENSP00000432481	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000534061	Transcript	.	.	ENSG00000077616	14526	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.688)	.	deleterious(0.01)	.	NALD2_HUMAN	NAALAD2	HGNC	E9PJ53_HUMAN,E9PII2_HUMAN	.	UPI0000031A85	SNV	NAALAD2,missense_variant,p.Trp487Cys,ENST00000534061,;NAALAD2,missense_variant,p.Trp454Cys,ENST00000321955,;NAALAD2,intron_variant,,ENST00000375944,;NAALAD2,downstream_gene_variant,,ENST00000532691,;	1691	93	92	SUCCESS
FAT3	120114	.	GRCh37	11	92523226	92523226	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	132	0	ENST00000298047.6:c.4453A>T	p.Thr1485Ser	p.T1485S	ENST00000298047		1485	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	.	4453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCACAGAT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	.	.	ENSP00000298047	.	7/27	.	.	.	.	.	.	.	.	.	7/27	PASS	ENST00000298047	Transcript	.	.	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Thr1485Ser,ENST00000298047,;FAT3,missense_variant,p.Thr1485Ser,ENST00000409404,;FAT3,missense_variant,p.Thr1335Ser,ENST00000525166,;	4470	132	122	SUCCESS
HEPHL1	341208	.	GRCh37	11	93806484	93806484	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	80	0	ENST00000315765.9:c.1383C>G	p.Ile461Met	p.I461M	ENST00000315765	NM_001098672.1	461	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS44710.1	1383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATCAAGGC	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07732,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000313699	.	8/20	.	.	.	.	.	.	.	.	COSM3454717	8/20	PASS	ENST00000315765	Transcript	.	.	ENSG00000181333	30477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.993)	.	deleterious(0.01)	1	HPHL1_HUMAN	HEPHL1	HGNC	.	.	UPI0000237563	SNV	HEPHL1,missense_variant,p.Ile461Met,ENST00000315765,;	1391	80	67	SUCCESS
FOLR4	0	.	GRCh37	11	94040439	94040439	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	92	0	ENST00000440961.2:c.436T>A	p.Trp146Arg	p.W146R	ENST00000440961	NM_001199206.1	146	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	.	436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTGGCGT	NONE	.	.	hmmpanther:PTHR10517:SF10,hmmpanther:PTHR10517,Pfam_domain:PF03024	.	.	ENSP00000416935	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000440961	Transcript	.	.	ENSG00000183560	32565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FOLR4_HUMAN	FOLR4	HGNC	.	.	UPI00003E58FA	SNV	FOLR4,missense_variant,p.Trp147Arg,ENST00000328458,;FOLR4,missense_variant,p.Trp146Arg,ENST00000440961,;	480	92	62	SUCCESS
GPR83	10888	.	GRCh37	11	94113896	94113896	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	39	0	ENST00000243673.2:c.691C>A	p.Pro231Thr	p.P231T	ENST00000243673	NM_016540.3	231	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS8297.1	691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGCTCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF174,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000243673	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243673	Transcript	.	.	ENSG00000123901	4523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	tolerated(0.18)	.	GPR83_HUMAN	GPR83	HGNC	Q9H011_HUMAN	.	UPI000013CB3F	SNV	GPR83,missense_variant,p.Pro189Thr,ENST00000539203,;GPR83,missense_variant,p.Pro231Thr,ENST00000243673,;	863	39	30	SUCCESS
PIWIL4	143689	.	GRCh37	11	94354059	94354059	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	36	76	0	ENST00000299001.6:c.2460A>T	p.Pro820=	p.P820=	ENST00000299001	NM_152431.2	820	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS31656.1	2460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCAGCACC	NONE	.	.	PROSITE_profiles:PS50822,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098	.	.	ENSP00000299001	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000299001	Transcript	.	.	ENSG00000134627	18444	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,synonymous_variant,p.%3D,ENST00000299001,;PIWIL4,synonymous_variant,p.%3D,ENST00000537419,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,3_prime_UTR_variant,,ENST00000446230,;PIWIL4,downstream_gene_variant,,ENST00000543336,;	2671	76	81	SUCCESS
IPO7	10527	.	GRCh37	11	9446500	9446500	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	44	110	0	ENST00000379719.3:c.1181A>T	p.Gln394Leu	p.Q394L	ENST00000379719	NM_006391.2	394	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS31425.1	1181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAGACAC	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF08506,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF27	.	.	ENSP00000369042	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000379719	Transcript	.	.	ENSG00000205339	9852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	IPO7_HUMAN	IPO7	HGNC	E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN	.	UPI0000072C06	SNV	IPO7,missense_variant,p.Gln394Leu,ENST00000379719,;SNORA23,upstream_gene_variant,,ENST00000365128,;IPO7,non_coding_transcript_exon_variant,,ENST00000530037,;IPO7,downstream_gene_variant,,ENST00000531235,;	1323	110	52	SUCCESS
MTMR2	8898	.	GRCh37	11	95657217	95657217	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	69	0	ENST00000346299.5:c.-99T>A		p.*33*	ENST00000346299	NM_016156.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8305.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCAGGCCA	NONE	.	.	.	.	.	ENSP00000345752	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000346299	Transcript	.	.	ENSG00000087053	7450	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMR2_HUMAN	MTMR2	HGNC	C9JEX3_HUMAN	.	UPI00001AF36F	SNV	MTMR2,5_prime_UTR_variant,,ENST00000346299,;MTMR2,5_prime_UTR_variant,,ENST00000393223,;MTMR2,5_prime_UTR_variant,,ENST00000352297,;MTMR2,5_prime_UTR_variant,,ENST00000409459,;MTMR2,non_coding_transcript_exon_variant,,ENST00000481642,;MTMR2,intron_variant,,ENST00000470011,;MTMR2,downstream_gene_variant,,ENST00000485988,;MTMR2,upstream_gene_variant,,ENST00000484818,;MTMR2,upstream_gene_variant,,ENST00000470293,;MTMR2,upstream_gene_variant,,ENST00000495134,;MTMR2,upstream_gene_variant,,ENST00000469574,;MTMR2,upstream_gene_variant,,ENST00000485740,;MTMR2,upstream_gene_variant,,ENST00000497683,;	243	69	61	SUCCESS
CLEC2B	9976	.	GRCh37	12	10005916	10005916	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	47	0	ENST00000228438.2:c.433A>T	p.Arg145Trp	p.R145W	ENST00000228438	NM_005127.2	145	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS8605.1	433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTGCAAA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF137,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000228438	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228438	Transcript	.	.	ENSG00000110852	2053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	CLC2B_HUMAN	CLEC2B	HGNC	.	.	UPI000013C8D4	SNV	CLEC2B,missense_variant,p.Arg145Trp,ENST00000228438,;CLEC2B,missense_variant,p.Arg76Trp,ENST00000538152,;CLEC2B,downstream_gene_variant,,ENST00000540743,;CLEC2B,downstream_gene_variant,,ENST00000539028,;	1367	47	55	SUCCESS
GAS2L3	283431	.	GRCh37	12	101018227	101018227	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	96	0	ENST00000266754.5:c.1644A>C	p.Pro548=	p.P548=	ENST00000266754		548	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9079.1	1644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAGTCCC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF256	.	.	ENSP00000439672	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000539410	Transcript	.	.	ENSG00000139354	27475	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA2L3_HUMAN	GAS2L3	HGNC	H0YIT6_HUMAN,G3V1N3_HUMAN,F8VSB7_HUMAN	.	UPI000000DA3B	SNV	GAS2L3,synonymous_variant,p.%3D,ENST00000539410,;GAS2L3,synonymous_variant,p.%3D,ENST00000266754,;GAS2L3,synonymous_variant,p.%3D,ENST00000537247,;GAS2L3,synonymous_variant,p.%3D,ENST00000547754,;GAS2L3,synonymous_variant,p.%3D,ENST00000552854,;	2030	96	92	SUCCESS
SLC5A8	160728	.	GRCh37	12	101551063	101551063	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	7	91	0	ENST00000536262.2:c.1827T>A	p.Arg609=	p.R609=	ENST00000536262	NM_145913.3	609	cgT/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS9080.1	1827	RADIA|MUTECT|MUSE|VARSCANS	.	CACAAACGAGT	NONE	.	.	.	.	.	ENSP00000445340	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000536262	Transcript	.	.	ENSG00000256870	19119	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SC5A8_HUMAN	SLC5A8	HGNC	.	.	UPI000004DAF6	SNV	SLC5A8,synonymous_variant,p.%3D,ENST00000536262,;	2386	91	68	SUCCESS
UTP20	27340	.	GRCh37	12	101748808	101748808	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	9	169	0	ENST00000261637.4:c.5306A>G	p.Lys1769Arg	p.K1769R	ENST00000261637	NM_014503.2	1769	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS9081.1	5306	MUTECT|MUSE	.	AAACAAGGAAG	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695,Gene3D:1.25.10.10	.	.	ENSP00000261637	.	41/62	.	.	.	.	.	.	.	.	COSM1644226	41/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.127)	.	tolerated(0.24)	1	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Lys1769Arg,ENST00000261637,;snoU13,downstream_gene_variant,,ENST00000458958,;	5480	169	141	SUCCESS
SPIC	121599	.	GRCh37	12	101870606	101870606	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	A	rs1442325215	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	73	108	0	ENST00000551346.1:c.-77G>A		p.X26_splice	ENST00000551346		26		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9082.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGATTGT	NONE	.	.	.	.	.	ENSP00000448580	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000551346	Transcript	.	.	ENSG00000166211	29549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPIC_HUMAN	SPIC	HGNC	.	.	UPI0000073CD8	SNV	SPIC,splice_region_variant,,ENST00000551346,;SPIC,upstream_gene_variant,,ENST00000299272,;RNA5SP367,downstream_gene_variant,,ENST00000516557,;	83	108	139	SUCCESS
STAB2	55576	.	GRCh37	12	104107485	104107485	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	84	0	ENST00000388887.2:c.4476C>A	p.Thr1492=	p.T1492=	ENST00000388887	NM_017564.9	1492	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS31888.1	4476	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCCCAGG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000373539	.	42/69	.	.	.	.	.	.	.	.	.	42/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,synonymous_variant,p.%3D,ENST00000388887,;STAB2,downstream_gene_variant,,ENST00000549798,;	4680	84	81	SUCCESS
APPL2	55198	.	GRCh37	12	105605024	105605024	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	75	1	ENST00000258530.3:c.357A>T	p.Arg119=	p.R119=	ENST00000258530	NM_001251904.1	119	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS58276.1	357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTCGGAA	NONE	.	.	Superfamily_domains:SSF103657,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF207	.	.	ENSP00000446917	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000551662	Transcript	.	.	ENSG00000136044	18242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DP13B_HUMAN	APPL2	HGNC	F8W124_HUMAN	.	UPI00020CE3BC	SNV	APPL2,synonymous_variant,p.%3D,ENST00000553097,;APPL2,synonymous_variant,p.%3D,ENST00000551662,;APPL2,synonymous_variant,p.%3D,ENST00000258530,;APPL2,synonymous_variant,p.%3D,ENST00000539978,;APPL2,downstream_gene_variant,,ENST00000549056,;APPL2,upstream_gene_variant,,ENST00000549573,;APPL2,synonymous_variant,p.%3D,ENST00000549974,;APPL2,synonymous_variant,p.%3D,ENST00000547439,;APPL2,non_coding_transcript_exon_variant,,ENST00000547809,;APPL2,non_coding_transcript_exon_variant,,ENST00000546768,;APPL2,upstream_gene_variant,,ENST00000550648,;	428	76	52	SUCCESS
TCP11L2	255394	.	GRCh37	12	106734764	106734764	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780790192	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	35	77	0	ENST00000299045.3:c.1303T>A	p.Trp435Arg	p.W435R	ENST00000299045	NM_152772.1	435	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS9104.1	1303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCTGGTCC	NONE	byFrequency	.	hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF17,Pfam_domain:PF05794	.	.	ENSP00000299045	.	9/10	.	.	.	.	.	.	.	.	rs780790192	9/10	PASS	ENST00000299045	Transcript	.	.	ENSG00000166046	28627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	T11L2_HUMAN	TCP11L2	HGNC	F8W1M6_HUMAN,F8W0R5_HUMAN,F8VW27_HUMAN,F8VRQ3_HUMAN	.	UPI000006D6D5	SNV	TCP11L2,missense_variant,p.Trp435Arg,ENST00000299045,;	1477	77	60	SUCCESS
KLRAP1	0	.	GRCh37	12	10746500	10746500	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	93	0	ENST00000535939.1:n.643A>G		p.*215*	ENST00000535939				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCTACAAT	NONE	.	.	.	.	.	.	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000535939	Transcript	.	.	ENSG00000256667	6372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KLRAP1	HGNC	.	.	.	SNV	KLRAP1,non_coding_transcript_exon_variant,,ENST00000535939,;KLRAP1,non_coding_transcript_exon_variant,,ENST00000510134,;KLRAP1,non_coding_transcript_exon_variant,,ENST00000341141,;KLRAP1,non_coding_transcript_exon_variant,,ENST00000521068,;KLRAP1,non_coding_transcript_exon_variant,,ENST00000503499,;	643	93	94	SUCCESS
DAO	1610	.	GRCh37	12	109286766	109286766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	63	0	ENST00000228476.3:c.461A>T	p.Glu154Val	p.E154V	ENST00000228476	NM_001917.4	154	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS9122.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGAGAGGG	NONE	.	.	hmmpanther:PTHR11530:SF5,hmmpanther:PTHR11530,Gene3D:3.50.50.60,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,Superfamily_domains:SSF51971	.	.	ENSP00000228476	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000228476	Transcript	.	.	ENSG00000110887	2671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.712)	.	deleterious(0.03)	.	OXDA_HUMAN	DAO	HGNC	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN	.	UPI0000130F5F	SNV	DAO,missense_variant,p.Glu154Val,ENST00000547166,;DAO,missense_variant,p.Glu31Val,ENST00000547768,;DAO,missense_variant,p.Glu154Val,ENST00000228476,;DAO,intron_variant,,ENST00000551281,;DAO,3_prime_UTR_variant,,ENST00000549215,;DAO,3_prime_UTR_variant,,ENST00000547122,;	665	63	48	SUCCESS
TAS2R7	50837	.	GRCh37	12	10954328	10954328	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs749889512	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	126	0	ENST00000240687.2:c.842A>G	p.His281Arg	p.H281R	ENST00000240687	NM_023919.2	281	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS8631.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAATGACTT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11394:SF58,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	.	.	ENSP00000240687	.	1/1	.	.	.	.	.	.	.	.	rs749889512	1/1	PASS	ENST00000240687	Transcript	.	.	ENSG00000121377	14913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TA2R7_HUMAN	TAS2R7	HGNC	Q50KV7_HUMAN,Q50KV5_HUMAN	.	UPI0000038B0F	SNV	TAS2R7,missense_variant,p.His281Arg,ENST00000240687,;TAS2R8,downstream_gene_variant,,ENST00000240615,;	899	126	96	SUCCESS
TCTN1	79600	.	GRCh37	12	111066600	111066600	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	45	0	ENST00000551590.1:c.501A>G	p.Pro167=	p.P167=	ENST00000551590		167	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41834.1	501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAGAAGT	NONE	.	.	hmmpanther:PTHR14611:SF1,hmmpanther:PTHR14611,Pfam_domain:PF07773	.	.	ENSP00000380779	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000397659	Transcript	.	.	ENSG00000204852	26113	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TECT1_HUMAN	TCTN1	HGNC	.	.	UPI00006E225F	SNV	TCTN1,synonymous_variant,p.%3D,ENST00000397655,;TCTN1,synonymous_variant,p.%3D,ENST00000397659,;TCTN1,synonymous_variant,p.%3D,ENST00000550703,;TCTN1,synonymous_variant,p.%3D,ENST00000551590,;TCTN1,5_prime_UTR_variant,,ENST00000377654,;HVCN1,intron_variant,,ENST00000548312,;TCTN1,downstream_gene_variant,,ENST00000471804,;AC144522.1,upstream_gene_variant,,ENST00000408319,;RN7SL387P,upstream_gene_variant,,ENST00000581015,;TCTN1,splice_acceptor_variant,,ENST00000552762,;TCTN1,non_coding_transcript_exon_variant,,ENST00000551555,;TCTN1,splice_acceptor_variant,,ENST00000552318,;TCTN1,splice_acceptor_variant,,ENST00000547868,;TCTN1,synonymous_variant,p.%3D,ENST00000480648,;TCTN1,3_prime_UTR_variant,,ENST00000546643,;TCTN1,3_prime_UTR_variant,,ENST00000478122,;TCTN1,3_prime_UTR_variant,,ENST00000397656,;TCTN1,3_prime_UTR_variant,,ENST00000495659,;TCTN1,3_prime_UTR_variant,,ENST00000490514,;TCTN1,3_prime_UTR_variant,,ENST00000464809,;TCTN1,downstream_gene_variant,,ENST00000481720,;	520	45	39	SUCCESS
HECTD4	283450	.	GRCh37	12	112717077	112717077	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	61	0	ENST00000550722.1:c.1210A>C	p.Thr404Pro	p.T404P	ENST00000550722	NM_001109662.3	404	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	.	1210	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGGTGGCAG	NONE	.	.	.	.	.	ENSP00000449784	.	9/76	.	.	.	.	.	.	.	.	.	9/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Thr154Pro,ENST00000430131,;HECTD4,missense_variant,p.Thr404Pro,ENST00000550722,;HECTD4,missense_variant,p.Thr404Pro,ENST00000377560,;HECTD4,intron_variant,,ENST00000550724,;	1606	61	41	SUCCESS
OAS1	4938	.	GRCh37	12	113355732	113355732	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	9	0	ENST00000202917.5:c.1038+227A>T		p.*346*	ENST00000202917	NM_016816.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31905.1	.	MUTECT|MUSE	.	GTAATAATAAA	NONE	.	.	.	.	.	ENSP00000388001	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000445409	Transcript	.	.	ENSG00000089127	8086	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OAS1_HUMAN	OAS1	HGNC	Q1P9K4_HUMAN	.	UPI00005B2E03	SNV	OAS1,3_prime_UTR_variant,,ENST00000452357,;OAS1,intron_variant,,ENST00000445409,;OAS1,intron_variant,,ENST00000202917,;OAS1,intron_variant,,ENST00000551241,;OAS1,intron_variant,,ENST00000553152,;OAS1,downstream_gene_variant,,ENST00000550689,;OAS1,downstream_gene_variant,,ENST00000550883,;OAS1,upstream_gene_variant,,ENST00000552526,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS1,downstream_gene_variant,,ENST00000549820,;OAS1,upstream_gene_variant,,ENST00000540589,;	.	9	9	SUCCESS
RASAL1	8437	.	GRCh37	12	113557018	113557018	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	60	0	ENST00000261729.5:c.557T>A	p.Leu186Gln	p.L186Q	ENST00000261729		186	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS55889.1	557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCAGCTCC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10194:SF3,hmmpanther:PTHR10194,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000450244	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000546530	Transcript	.	.	ENSG00000111344	9873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	RASL1_HUMAN	RASAL1	HGNC	.	.	UPI0001DD37FE	SNV	RASAL1,missense_variant,p.Leu186Gln,ENST00000261729,;RASAL1,missense_variant,p.Leu186Gln,ENST00000548055,;RASAL1,missense_variant,p.Leu186Gln,ENST00000446861,;RASAL1,missense_variant,p.Leu186Gln,ENST00000546530,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,intron_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;	843	60	46	SUCCESS
NOS1	4842	.	GRCh37	12	117680507	117680507	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	70	0	ENST00000317775.6:c.2966T>C	p.Leu989Pro	p.L989P	ENST00000317775	NM_000620.4	989	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS55890.1	3068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATAGACCT	NONE	.	.	Superfamily_domains:SSF63380,PIRSF_domain:PIRSF000333,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Leu989Pro,ENST00000317775,;NOS1,missense_variant,p.Leu1023Pro,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;TCEB1P32,downstream_gene_variant,,ENST00000548625,;	3073	70	55	SUCCESS
NOS1	4842	.	GRCh37	12	117703310	117703310	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	47	0	ENST00000317775.6:c.1947C>A	p.Asp649Glu	p.D649E	ENST00000317775	NM_000620.4	649	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS55890.1	1947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTGTCACT	NONE	.	.	Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Gene3D:3.90.1230.10,Pfam_domain:PF02898,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63	.	.	ENSP00000337459	.	11/29	.	.	.	.	.	.	.	.	.	11/29	PASS	ENST00000338101	Transcript	.	.	ENSG00000089250	7872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	tolerated(0.7)	.	NOS1_HUMAN	NOS1	HGNC	A0PJJ7_HUMAN	.	UPI00001FBC10	SNV	NOS1,missense_variant,p.Asp649Glu,ENST00000317775,;NOS1,missense_variant,p.Asp649Glu,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,;	1952	47	46	SUCCESS
KSR2	283455	.	GRCh37	12	118298200	118298200	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	40	0	ENST00000339824.5:c.217T>C	p.Cys73Arg	p.C73R	ENST00000339824		73	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	.	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCAGGACA	NONE	.	.	Pfam_domain:PF13543	.	.	ENSP00000339952	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000339824	Transcript	.	.	ENSG00000171435	18610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	KSR2_HUMAN	KSR2	HGNC	E9PB13_HUMAN	.	UPI000152636C	SNV	KSR2,missense_variant,p.Cys44Arg,ENST00000425217,;KSR2,missense_variant,p.Cys73Arg,ENST00000339824,;	945	40	32	SUCCESS
SRRM4	84530	.	GRCh37	12	119568581	119568581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	18	0	ENST00000267260.4:c.713C>A	p.Ser238Tyr	p.S238Y	ENST00000267260	NM_194286.3	238	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS44994.1	713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCCAGTC	NONE	.	.	.	.	.	ENSP00000267260	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	deleterious_low_confidence(0)	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Ser238Tyr,ENST00000267260,;SRRM4,non_coding_transcript_exon_variant,,ENST00000537597,;SRRM4,downstream_gene_variant,,ENST00000545224,;	1101	18	24	SUCCESS
SRRM4	84530	.	GRCh37	12	119588876	119588876	+	synonymous_variant	Silent	SNP	C	C	A	rs756880003	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	81	0	ENST00000267260.4:c.1131C>A	p.Val377=	p.V377=	ENST00000267260	NM_194286.3	377	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS44994.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCCCATC	NONE	byFrequency	.	.	.	.	ENSP00000267260	.	10/13	.	.	.	.	.	.	.	.	rs756880003	10/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,synonymous_variant,p.%3D,ENST00000267260,;	1519	81	87	SUCCESS
SRRM4	84530	.	GRCh37	12	119594391	119594391	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	48	117	0	ENST00000267260.4:c.1624A>T	p.Ser542Cys	p.S542C	ENST00000267260	NM_194286.3	542	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS44994.1	1624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTAGCCGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000267260	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000267260	Transcript	.	.	ENSG00000139767	29389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SRRM4_HUMAN	SRRM4	HGNC	.	.	UPI00001FBC3F	SNV	SRRM4,missense_variant,p.Ser542Cys,ENST00000267260,;	2012	118	96	SUCCESS
GCN1L1	0	.	GRCh37	12	120594786	120594786	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	68	0	ENST00000300648.6:c.3098A>T	p.Glu1033Val	p.E1033V	ENST00000300648	NM_006836.1	1033	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41847.1	3098	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTCCGGG	NONE	.	.	Superfamily_domains:SSF48371,Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	.	.	ENSP00000300648	.	27/58	.	.	.	.	.	.	.	.	.	27/58	PASS	ENST00000300648	Transcript	.	.	ENSG00000089154	4199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	.	.	GCN1L_HUMAN	GCN1L1	HGNC	B4DM32_HUMAN	.	UPI00001FBC69	SNV	GCN1L1,missense_variant,p.Glu1033Val,ENST00000300648,;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1L1,non_coding_transcript_exon_variant,,ENST00000551920,;GCN1L1,downstream_gene_variant,,ENST00000550471,;GCN1L1,upstream_gene_variant,,ENST00000548132,;GCN1L1,downstream_gene_variant,,ENST00000547369,;	3111	68	48	SUCCESS
COX6A1	1337	.	GRCh37	12	120875944	120875944	+	synonymous_variant	Silent	SNP	T	T	C	rs1449857225	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	51	0	ENST00000229379.2:c.15T>C	p.Gly5=	p.G5=	ENST00000229379	NM_004373.3	5	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS9197.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGTGTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11504,hmmpanther:PTHR11504:SF2,PIRSF_domain:PIRSF000277	.	.	ENSP00000229379	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000229379	Transcript	.	.	ENSG00000111775	2277	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX6A1_HUMAN	COX6A1	HGNC	Q9UEG9_HUMAN,H6SG15_HUMAN	.	UPI0000128144	SNV	COX6A1,synonymous_variant,p.%3D,ENST00000229379,;AL021546.6,upstream_gene_variant,,ENST00000551806,;COX6A1,non_coding_transcript_exon_variant,,ENST00000550009,;COX6A1,upstream_gene_variant,,ENST00000549525,;	52	51	31	SUCCESS
CABP1	9478	.	GRCh37	12	121098923	121098923	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	99	0	ENST00000316803.3:c.989C>A	p.Ala330Asp	p.A330D	ENST00000316803	NM_001033677.1	330	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS31913.1	989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGCTATGA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF121,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000317310	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000316803	Transcript	.	.	ENSG00000157782	1384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CABP1_HUMAN	CABP1	HGNC	.	.	UPI00005B3D8A	SNV	CABP1,missense_variant,p.Ala187Asp,ENST00000288616,;CABP1,missense_variant,p.Ala266Asp,ENST00000453000,;CABP1,missense_variant,p.Ala127Asp,ENST00000351200,;CABP1,missense_variant,p.Ala330Asp,ENST00000316803,;CABP1,non_coding_transcript_exon_variant,,ENST00000498082,;	1123	99	89	SUCCESS
ZCCHC8	55596	.	GRCh37	12	122967945	122967945	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	83	0	ENST00000336229.4:c.606-54A>G		p.*202*	ENST00000336229	NM_017612.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTGTTTT	NONE	.	.	.	.	.	ENSP00000337313	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336229	Transcript	.	.	ENSG00000033030	25265	.	.	MODIFIER	6/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC8_HUMAN	ZCCHC8	HGNC	F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN	.	UPI00001E0582	SNV	ZCCHC8,5_prime_UTR_variant,,ENST00000540586,;ZCCHC8,5_prime_UTR_variant,,ENST00000543897,;ZCCHC8,5_prime_UTR_variant,,ENST00000544054,;ZCCHC8,intron_variant,,ENST00000536306,;ZCCHC8,intron_variant,,ENST00000336229,;ZCCHC8,intron_variant,,ENST00000536663,;ZCCHC8,upstream_gene_variant,,ENST00000538116,;ZCCHC8,upstream_gene_variant,,ENST00000542892,;ZCCHC8,non_coding_transcript_exon_variant,,ENST00000538493,;ZCCHC8,upstream_gene_variant,,ENST00000546149,;	.	83	85	SUCCESS
PITPNM2	57605	.	GRCh37	12	123498472	123498472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	75	0	ENST00000320201.4:c.196G>T	p.Gly66Cys	p.G66C	ENST00000320201	NM_020845.2	66	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9242.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCCCACAT	NONE	.	.	Superfamily_domains:SSF55961,Gene3D:3.30.530.20,Pfam_domain:PF02121,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41	.	.	ENSP00000322218	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000320201	Transcript	.	.	ENSG00000090975	21044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PITM2_HUMAN	PITPNM2	HGNC	Q9UF51_HUMAN,F5H664_HUMAN	.	UPI0000070D27	SNV	PITPNM2,missense_variant,p.Gly66Cys,ENST00000546049,;PITPNM2,missense_variant,p.Gly66Cys,ENST00000542749,;PITPNM2,missense_variant,p.Gly66Cys,ENST00000280562,;PITPNM2,missense_variant,p.Gly66Cys,ENST00000320201,;PITPNM2,intron_variant,,ENST00000392428,;PITPNM2,downstream_gene_variant,,ENST00000542210,;MIR4304,upstream_gene_variant,,ENST00000580964,;RN7SL133P,upstream_gene_variant,,ENST00000585256,;PITPNM2,non_coding_transcript_exon_variant,,ENST00000451868,;	335	75	67	SUCCESS
DNAH10	196385	.	GRCh37	12	124285839	124285839	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs571838812	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	74	0	ENST00000409039.3:c.2120G>A	p.Gly707Glu	p.G707E	ENST00000409039	NM_207437.3	707	gGg/gAg	0	.	A:0	.	A:0	.	A	G/E	protein_coding	YES	CCDS9255.2	2120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGGATAC	NONE	by1000G	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF08385	A:0	.	ENSP00000386770	A:0	15/78	.	.	.	.	.	.	.	.	rs571838812,COSM3457594,COSM3457593	15/78	PASS	ENST00000409039	Transcript	.	A:0.0002	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.039)	A:0.001	.	0,1,1	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Gly707Glu,ENST00000409039,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;	2145	74	70	SUCCESS
DNAH10	196385	.	GRCh37	12	124383215	124383215	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	87	0	ENST00000409039.3:c.9140T>A	p.Leu3047Gln	p.L3047Q	ENST00000409039	NM_207437.3	3047	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS9255.2	9140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTCTGGATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12777	.	.	ENSP00000386770	.	55/78	.	.	.	.	.	.	.	.	.	55/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Leu3047Gln,ENST00000409039,;	9165	87	83	SUCCESS
NCOR2	9612	.	GRCh37	12	124886995	124886995	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	65	0	ENST00000405201.1:c.1595A>T	p.Glu532Val	p.E532V	ENST00000405201		532	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41858.2	1595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	14/47	.	.	.	.	.	.	.	.	.	14/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Glu532Val,ENST00000356219,;NCOR2,missense_variant,p.Glu532Val,ENST00000458234,;NCOR2,missense_variant,p.Glu532Val,ENST00000405201,;NCOR2,missense_variant,p.Glu531Val,ENST00000404621,;NCOR2,missense_variant,p.Glu102Val,ENST00000404121,;NCOR2,missense_variant,p.Glu532Val,ENST00000397355,;NCOR2,missense_variant,p.Glu531Val,ENST00000429285,;	1596	65	51	SUCCESS
TMEM132D	121256	.	GRCh37	12	130184613	130184613	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760557702	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	72	0	ENST00000422113.2:c.710G>T	p.Gly237Val	p.G237V	ENST00000422113	NM_133448.2	237	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9266.1	710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCCCTCTC	NONE	byFrequency	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	2/9	.	.	.	.	.	.	.	.	rs760557702	2/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious(0)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Gly237Val,ENST00000422113,;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	1037	72	90	SUCCESS
GPRC5A	9052	.	GRCh37	12	13061653	13061653	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	32	78	0	ENST00000014914.5:c.470T>C	p.Met157Thr	p.M157T	ENST00000014914	NM_003979.3	157	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS8657.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCATGAATA	NONE	.	.	hmmpanther:PTHR14511:SF8,hmmpanther:PTHR14511,Pfam_domain:PF00003	.	.	ENSP00000014914	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000014914	Transcript	.	.	ENSG00000013588	9836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.438)	.	tolerated(0.06)	.	RAI3_HUMAN	GPRC5A	HGNC	F5GWG3_HUMAN	.	UPI00000373F7	SNV	GPRC5A,missense_variant,p.Met157Thr,ENST00000014914,;GPRC5A,missense_variant,p.Met157Thr,ENST00000534831,;GPRC5A,upstream_gene_variant,,ENST00000540125,;GPRC5A,intron_variant,,ENST00000542056,;GPRC5A,non_coding_transcript_exon_variant,,ENST00000537783,;	1360	78	62	SUCCESS
HEBP1	50865	.	GRCh37	12	13140219	13140219	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	119	0	ENST00000014930.4:c.265A>T	p.Asn89Tyr	p.N89Y	ENST00000014930	NM_015987.4	89	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS31749.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTGGGGA	NONE	.	.	hmmpanther:PTHR11220,Pfam_domain:PF04832,Superfamily_domains:SSF55136	.	.	ENSP00000014930	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000014930	Transcript	.	.	ENSG00000013583	17176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.093)	.	deleterious(0.04)	.	HEBP1_HUMAN	HEBP1	HGNC	F5GWX2_HUMAN	.	UPI0000038D71	SNV	HEBP1,missense_variant,p.Asn89Tyr,ENST00000014930,;HEBP1,missense_variant,p.Asn89Tyr,ENST00000536942,;HEBP1,missense_variant,p.Asn18Tyr,ENST00000535636,;RP11-392P7.6,downstream_gene_variant,,ENST00000607894,;RP11-392P7.6,downstream_gene_variant,,ENST00000499948,;RP11-392P7.6,downstream_gene_variant,,ENST00000542078,;	424	119	116	SUCCESS
SFSWAP	6433	.	GRCh37	12	132239947	132239947	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	30	0	ENST00000261674.4:c.1471C>T	p.Pro491Ser	p.P491S	ENST00000261674	NM_004592.3	491	Ccg/Tcg	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS58290.1	1471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCCGTGG	NONE	.	.	PROSITE_profiles:PS50128,hmmpanther:PTHR13161:SF15,hmmpanther:PTHR13161,Pfam_domain:PF01805,SMART_domains:SM00648,Superfamily_domains:SSF109905	.	.	ENSP00000437738	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000541286	Transcript	.	.	ENSG00000061936	10790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.482)	.	tolerated(0.31)	.	SFSWA_HUMAN	SFSWAP	HGNC	F5H5X1_HUMAN	.	UPI000204AB4C	SNV	SFSWAP,missense_variant,p.Pro131Ser,ENST00000537164,;SFSWAP,missense_variant,p.Pro491Ser,ENST00000541286,;SFSWAP,missense_variant,p.Pro284Ser,ENST00000535236,;SFSWAP,missense_variant,p.Pro491Ser,ENST00000261674,;RP11-495K9.5,downstream_gene_variant,,ENST00000537032,;SFSWAP,3_prime_UTR_variant,,ENST00000538548,;SFSWAP,downstream_gene_variant,,ENST00000535202,;	1564	30	19	SUCCESS
ART4	420	.	GRCh37	12	14993397	14993397	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	55	0	ENST00000228936.4:c.835A>G	p.Asn279Asp	p.N279D	ENST00000228936	NM_021071.2	279	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS8668.1	835	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTATATG	NONE	.	.	hmmpanther:PTHR10339:SF1,hmmpanther:PTHR10339,Gene3D:3.90.176.10,Superfamily_domains:SSF56399	.	.	ENSP00000228936	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000228936	Transcript	.	.	ENSG00000111339	726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	NAR4_HUMAN	ART4	HGNC	Q3KZ27_HUMAN	.	UPI000004A87C	SNV	ART4,missense_variant,p.Asn262Asp,ENST00000420600,;ART4,missense_variant,p.Asn279Asp,ENST00000228936,;ART4,intron_variant,,ENST00000430129,;ART4,intron_variant,,ENST00000544616,;RP11-233G1.4,upstream_gene_variant,,ENST00000444324,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;	1217	55	46	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1987485	1987485	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	74	0	ENST00000382722.5:c.1715C>G	p.Pro572Arg	p.P572R	ENST00000382722	NM_172364.4	572	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS44785.1	1715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGGCCGG	NONE	.	.	hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166,Pfam_domain:PF02743	.	.	ENSP00000372169	.	16/38	.	.	.	.	.	.	.	.	.	16/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Pro457Arg,ENST00000585732,;CACNA2D4,missense_variant,p.Pro572Arg,ENST00000586184,;CACNA2D4,missense_variant,p.Pro572Arg,ENST00000382722,;CACNA2D4,missense_variant,p.Pro508Arg,ENST00000588077,;CACNA2D4,missense_variant,p.Pro508Arg,ENST00000585708,;CACNA2D4,intron_variant,,ENST00000587995,;CACNA2D4,upstream_gene_variant,,ENST00000539048,;CACNA2D4,synonymous_variant,p.%3D,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	2078	74	55	SUCCESS
CACNA2D4	93589	.	GRCh37	12	2027475	2027475	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1284328591	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	68	0	ENST00000382722.5:c.165G>T	p.Trp55Cys	p.W55C	ENST00000382722	NM_172364.4	55	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS44785.1	165	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGCCACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10166:SF26,hmmpanther:PTHR10166	.	.	ENSP00000372169	.	1/38	.	.	.	.	.	.	.	.	.	1/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.05)	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	SNV	CACNA2D4,missense_variant,p.Trp55Cys,ENST00000585732,;CACNA2D4,missense_variant,p.Trp55Cys,ENST00000587995,;CACNA2D4,missense_variant,p.Trp55Cys,ENST00000586184,;CACNA2D4,missense_variant,p.Trp55Cys,ENST00000382722,;CACNA2D4,upstream_gene_variant,,ENST00000588077,;CACNA2D4,upstream_gene_variant,,ENST00000585708,;RP5-1096D14.3,intron_variant,,ENST00000544163,;CACNA2D4,missense_variant,p.Trp55Cys,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	528	68	41	SUCCESS
C2CD5	9847	.	GRCh37	12	22606848	22606848	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	116	0	ENST00000333957.4:c.2853G>A	p.Glu951=	p.E951=	ENST00000333957	NM_014802.1	951	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS31758.1	2853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATTCTCCAT	NONE	.	.	.	.	.	ENSP00000334229	.	24/25	.	.	.	.	.	.	.	.	COSM938047,COSM938048	24/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,synonymous_variant,p.%3D,ENST00000545552,;C2CD5,synonymous_variant,p.%3D,ENST00000333957,;C2CD5,synonymous_variant,p.%3D,ENST00000544930,;C2CD5,synonymous_variant,p.%3D,ENST00000542676,;C2CD5,synonymous_variant,p.%3D,ENST00000446597,;C2CD5,synonymous_variant,p.%3D,ENST00000536386,;C2CD5,synonymous_variant,p.%3D,ENST00000539615,;C2CD5,synonymous_variant,p.%3D,ENST00000396028,;C2CD5,downstream_gene_variant,,ENST00000543888,;	3109	116	87	SUCCESS
FKBP4	2288	.	GRCh37	12	2909266	2909266	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1341405720	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	47	0	ENST00000001008.4:c.824A>G	p.Glu275Gly	p.E275G	ENST00000001008	NM_002014.3	275	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8512.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGAGCGGG	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10516:SF25,hmmpanther:PTHR10516,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000001008	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000001008	Transcript	.	.	ENSG00000004478	3720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0.01)	.	FKBP4_HUMAN	FKBP4	HGNC	F5H1U3_HUMAN	.	UPI000013C4D0	SNV	FKBP4,missense_variant,p.Glu275Gly,ENST00000001008,;FKBP4,upstream_gene_variant,,ENST00000539181,;FKBP4,downstream_gene_variant,,ENST00000538622,;FKBP4,upstream_gene_variant,,ENST00000544366,;RP4-816N1.6,intron_variant,,ENST00000547834,;RP4-816N1.7,intron_variant,,ENST00000547042,;FKBP4,downstream_gene_variant,,ENST00000540260,;FKBP4,non_coding_transcript_exon_variant,,ENST00000543037,;FKBP4,downstream_gene_variant,,ENST00000543769,;	1011	47	47	SUCCESS
OVCH1	341350	.	GRCh37	12	29580582	29580582	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	34	0	ENST00000318184.5:c.3328-1C>A		p.X1110_splice	ENST00000318184	NM_183378.2	1110		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGTGAGA	NONE	.	.	.	.	.	ENSP00000326708	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318184	Transcript	.	.	ENSG00000187950	23080	.	.	HIGH	27/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OVCH1_HUMAN	OVCH1	HGNC	.	.	UPI000040640A	SNV	OVCH1,splice_acceptor_variant,,ENST00000318184,;OVCH1-AS1,intron_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1,intron_variant,,ENST00000539117,;	.	34	25	SUCCESS
KIAA1551	0	.	GRCh37	12	32137547	32137547	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	77	0	ENST00000312561.4:c.3658A>T	p.Arg1220Ter	p.R1220*	ENST00000312561	NM_018169.3	1220	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS8725.2	3658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAGAACT	NONE	.	.	hmmpanther:PTHR21604,Pfam_domain:PF15395	.	.	ENSP00000310338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000312561	Transcript	.	.	ENSG00000174718	25559	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1551_HUMAN	KIAA1551	HGNC	J3KPI3_HUMAN,F5H488_HUMAN	.	UPI0000577B2F	SNV	KIAA1551,stop_gained,p.Arg1220Ter,ENST00000312561,;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	4072	77	67	SUCCESS
SYT10	341359	.	GRCh37	12	33532888	33532888	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	32	86	0	ENST00000228567.3:c.1379A>G	p.His460Arg	p.H460R	ENST00000228567	NM_198992.3	460	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS8732.1	1379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGTGTCCT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000228567	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000228567	Transcript	.	.	ENSG00000110975	19266	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.353)	.	tolerated(0.12)	.	SYT10_HUMAN	SYT10	HGNC	F5H2A8_HUMAN	.	UPI0000052B30	SNV	SYT10,missense_variant,p.His460Arg,ENST00000228567,;SYT10,missense_variant,p.His279Arg,ENST00000535526,;SYT10,3_prime_UTR_variant,,ENST00000539102,;	1676	86	64	SUCCESS
EFCAB4B	0	.	GRCh37	12	3806172	3806172	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	16	35	0	ENST00000252322.1:c.-7A>G		p.*3*	ENST00000252322	NM_032680.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44803.1	.	RADIA|MUTECT|MUSE	.	GCGATTAGTCA	NONE	.	.	.	.	.	ENSP00000409382	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000440314	Transcript	.	.	ENSG00000130038	28657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EFC4B_HUMAN	EFCAB4B	HGNC	.	.	UPI00017A8807	SNV	EFCAB4B,5_prime_UTR_variant,,ENST00000444507,;EFCAB4B,5_prime_UTR_variant,,ENST00000252322,;EFCAB4B,5_prime_UTR_variant,,ENST00000440314,;	468	35	49	SUCCESS
ALG10B	144245	.	GRCh37	12	38710709	38710709	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	54	0	ENST00000308742.4:c.14A>G	p.Glu5Gly	p.E5G	ENST00000308742	NM_001013620.3	5	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS31772.1	14	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGAGGGTT	NONE	.	.	hmmpanther:PTHR12989:SF12,hmmpanther:PTHR12989,PIRSF_domain:PIRSF028810	.	.	ENSP00000310120	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000308742	Transcript	.	.	ENSG00000175548	31088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	deleterious_low_confidence(0.01)	.	AG10B_HUMAN	ALG10B	HGNC	.	.	UPI000013EDA4	SNV	ALG10B,missense_variant,p.Glu5Gly,ENST00000308742,;ALG10B,missense_variant,p.Glu5Gly,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,missense_variant,p.Glu5Gly,ENST00000548240,;ALG10B,non_coding_transcript_exon_variant,,ENST00000553138,;	330	55	56	SUCCESS
KIF21A	55605	.	GRCh37	12	39727052	39727052	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	38	103	0	ENST00000361418.5:c.2449A>T	p.Arg817Ter	p.R817*	ENST00000361418		817	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS53776.1	2449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTTTTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398	.	.	ENSP00000354878	.	18/38	.	.	.	.	.	.	.	.	COSM1721259,COSM1721260	18/38	PASS	ENST00000361418	Transcript	.	.	ENSG00000139116	19349	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	KI21A_HUMAN	KIF21A	HGNC	.	.	UPI0000212ED9	SNV	KIF21A,stop_gained,p.Arg165Ter,ENST00000552961,;KIF21A,stop_gained,p.Arg817Ter,ENST00000361418,;KIF21A,stop_gained,p.Arg804Ter,ENST00000544797,;KIF21A,stop_gained,p.Arg817Ter,ENST00000395670,;KIF21A,stop_gained,p.Arg804Ter,ENST00000361961,;KIF21A,intron_variant,,ENST00000541463,;KIF21A,upstream_gene_variant,,ENST00000551264,;KIF21A,upstream_gene_variant,,ENST00000551066,;KIF21A,upstream_gene_variant,,ENST00000552475,;KIF21A,stop_gained,p.Arg75Ter,ENST00000547108,;KIF21A,non_coding_transcript_exon_variant,,ENST00000546817,;	2465	103	112	SUCCESS
ABCD2	225	.	GRCh37	12	40010969	40010969	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	31	66	0	ENST00000308666.3:c.941T>A	p.Val314Glu	p.V314E	ENST00000308666	NM_005164.3	314	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8734.1	941	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTACCTAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Pfam_domain:PF06472,Superfamily_domains:SSF90123	.	.	ENSP00000310688	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000308666	Transcript	.	.	ENSG00000173208	66	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	.	deleterious(0)	.	ABCD2_HUMAN	ABCD2	HGNC	.	.	UPI000004C4C6	SNV	ABCD2,missense_variant,p.Val314Glu,ENST00000308666,;	1077	66	65	SUCCESS
NELL2	4753	.	GRCh37	12	45105173	45105173	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	68	0	ENST00000429094.2:c.1091A>T	p.Gln364Leu	p.Q364L	ENST00000429094	NM_001145108.1	364	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS44863.1	1241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTGGTCC	NONE	.	.	hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0	.	.	ENSP00000416341	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000437801	Transcript	.	.	ENSG00000184613	7751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.12)	.	NELL2_HUMAN	NELL2	HGNC	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN	.	UPI000191537D	SNV	NELL2,missense_variant,p.Gln387Leu,ENST00000333837,;NELL2,missense_variant,p.Gln363Leu,ENST00000549027,;NELL2,missense_variant,p.Gln414Leu,ENST00000437801,;NELL2,missense_variant,p.Gln363Leu,ENST00000551601,;NELL2,missense_variant,p.Gln364Leu,ENST00000429094,;NELL2,missense_variant,p.Gln364Leu,ENST00000452445,;NELL2,missense_variant,p.Gln108Leu,ENST00000550313,;NELL2,missense_variant,p.Gln363Leu,ENST00000395487,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;	1613	68	77	SUCCESS
SLC38A2	54407	.	GRCh37	12	46760941	46760941	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	15	167	0	ENST00000256689.5:c.399A>G	p.Leu133=	p.L133=	ENST00000256689	NM_018976.4	133	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS8749.1	399	RADIA|MUTECT|MUSE|VARSCANS	.	TCATATAATAA	NONE	.	.	hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Pfam_domain:PF01490	.	.	ENSP00000256689	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000256689	Transcript	.	.	ENSG00000134294	13448	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S38A2_HUMAN	SLC38A2	HGNC	.	.	UPI000000121A	SNV	SLC38A2,synonymous_variant,p.%3D,ENST00000256689,;SLC38A2,upstream_gene_variant,,ENST00000551374,;RP11-474P2.2,upstream_gene_variant,,ENST00000550319,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548870,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000547252,;SLC38A2,downstream_gene_variant,,ENST00000551405,;SLC38A2,upstream_gene_variant,,ENST00000548111,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,upstream_gene_variant,,ENST00000548785,;SLC38A2,upstream_gene_variant,,ENST00000552414,;SLC38A2,upstream_gene_variant,,ENST00000552703,;SLC38A2,upstream_gene_variant,,ENST00000546520,;SLC38A2,downstream_gene_variant,,ENST00000553252,;SLC38A2,upstream_gene_variant,,ENST00000548236,;	844	167	144	SUCCESS
H1FNT	0	.	GRCh37	12	48723506	48723506	+	synonymous_variant	Silent	SNP	C	C	T	rs1414629277	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	21	0	ENST00000335017.1:c.432C>T	p.Pro144=	p.P144=	ENST00000335017	NM_181788.1	144	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8762.1	432	RADIA|SOMATICSNIPER|VARSCANS	.	GCTCCCTGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF14,hmmpanther:PTHR11467	.	.	ENSP00000334805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335017	Transcript	.	.	ENSG00000187166	24893	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H1FNT_HUMAN	H1FNT	HGNC	.	.	UPI00001AA15C	SNV	H1FNT,synonymous_variant,p.%3D,ENST00000335017,;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	744	21	47	SUCCESS
OR8S1	341568	.	GRCh37	12	48919702	48919702	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	69	0	ENST00000310194.1:c.288C>G	p.Gly96=	p.G96=	ENST00000310194	NM_001005203.2	96	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS31789.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCTGCCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF239,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000310632	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000310194	Transcript	.	.	ENSG00000197376	19628	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8S1_HUMAN	OR8S1	HGNC	.	.	UPI000013EFC1	SNV	OR8S1,synonymous_variant,p.%3D,ENST00000310194,;OR8S1,intron_variant,,ENST00000551654,;	288	69	36	SUCCESS
KMT2D	8085	.	GRCh37	12	49420043	49420043	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	39	92	0	ENST00000301067.7:c.15706A>C	p.Asn5236His	p.N5236H	ENST00000301067	NM_003482.3	5236	Aac/Cac	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS44873.1	15706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTTGTTCT	NONE	.	.	PROSITE_profiles:PS51543,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	48/54	.	.	.	.	.	.	.	.	.	48/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Asn5236His,ENST00000301067,;KMT2D,upstream_gene_variant,,ENST00000526209,;KMT2D,downstream_gene_variant,,ENST00000552391,;	15706	92	83	SUCCESS
TUBA1C	84790	.	GRCh37	12	49666554	49666554	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	101	220	0	ENST00000301072.6:c.894A>T	p.Pro298=	p.P298=	ENST00000301072	NM_032704.3	298	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS8782.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGCCAA	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307	.	.	ENSP00000301072	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000301072	Transcript	.	.	ENSG00000167553	20768	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBA1C_HUMAN	TUBA1C	HGNC	F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN	.	UPI000013698C	SNV	TUBA1C,synonymous_variant,p.%3D,ENST00000541364,;TUBA1C,synonymous_variant,p.%3D,ENST00000301072,;TUBA1C,downstream_gene_variant,,ENST00000549183,;RP11-161H23.5,non_coding_transcript_exon_variant,,ENST00000550468,;TUBA1C,3_prime_UTR_variant,,ENST00000552448,;TUBA1C,non_coding_transcript_exon_variant,,ENST00000548470,;TUBA1C,downstream_gene_variant,,ENST00000549818,;TUBA1C,downstream_gene_variant,,ENST00000552125,;	1169	220	182	SUCCESS
KCNA1	3736	.	GRCh37	12	5021211	5021211	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs146948558	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	39	109	0	ENST00000382545.3:c.667A>C	p.Ile223Leu	p.I223L	ENST00000382545	NM_000217.2	223	Atc/Ctc	0	G:0	.	.	.	.	C	I/L	protein_coding	YES	CCDS8535.1	667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCATCGTG	NONE	byCluster	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537:SF24,hmmpanther:PTHR11537,Transmembrane_helices:TMhelix	.	G:0.0001	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	rs146948558	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.4)	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,missense_variant,p.Ile223Leu,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	1774	109	71	SUCCESS
FAIM2	23017	.	GRCh37	12	50294962	50294962	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	23	0	ENST00000320634.3:c.162A>T	p.Pro54=	p.P54=	ENST00000320634	NM_012306.3	54	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS8791.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGGGGG	NONE	.	.	hmmpanther:PTHR23291:SF18,hmmpanther:PTHR23291	.	.	ENSP00000321951	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000320634	Transcript	.	.	ENSG00000135472	17067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LFG2_HUMAN	FAIM2	HGNC	F8VV65_HUMAN,B3KR08_HUMAN	.	UPI0000072B0C	SNV	FAIM2,synonymous_variant,p.%3D,ENST00000550635,;FAIM2,synonymous_variant,p.%3D,ENST00000550890,;FAIM2,synonymous_variant,p.%3D,ENST00000547871,;FAIM2,synonymous_variant,p.%3D,ENST00000320634,;FAIM2,upstream_gene_variant,,ENST00000552863,;FAIM2,upstream_gene_variant,,ENST00000552669,;FAIM2,synonymous_variant,p.%3D,ENST00000550195,;	257	23	30	SUCCESS
ASIC1	41	.	GRCh37	12	50473727	50473727	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	45	144	0	ENST00000447966.2:c.1094T>C	p.Met365Thr	p.M365T	ENST00000447966	NM_001095.3	365	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS8796.1	1094	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATGCCTT	NONE	.	.	hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110,Pfam_domain:PF00858,Prints_domain:PR01078	.	.	ENSP00000228468	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000228468	Transcript	.	.	ENSG00000110881	100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	ASIC1_HUMAN	ASIC1	HGNC	.	.	UPI000013C8D6	SNV	ASIC1,missense_variant,p.Met365Thr,ENST00000228468,;ASIC1,missense_variant,p.Met399Thr,ENST00000552438,;ASIC1,missense_variant,p.Met233Thr,ENST00000453327,;ASIC1,missense_variant,p.Met365Thr,ENST00000447966,;ASIC1,upstream_gene_variant,,ENST00000552633,;ASIC1,3_prime_UTR_variant,,ENST00000550558,;ASIC1,non_coding_transcript_exon_variant,,ENST00000551199,;ASIC1,downstream_gene_variant,,ENST00000549792,;ASIC1,downstream_gene_variant,,ENST00000548350,;	1479	144	113	SUCCESS
ASIC1	41	.	GRCh37	12	50474966	50474966	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	62	0	ENST00000447966.2:c.1377+2T>A		p.X459_splice	ENST00000447966	NM_001095.3	459		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8796.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGTAAGCG	NONE	.	.	.	.	.	ENSP00000228468	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000228468	Transcript	.	.	ENSG00000110881	100	.	.	HIGH	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASIC1_HUMAN	ASIC1	HGNC	.	.	UPI000013C8D6	SNV	ASIC1,splice_donor_variant,,ENST00000552633,;ASIC1,splice_donor_variant,,ENST00000228468,;ASIC1,splice_donor_variant,,ENST00000453327,;ASIC1,splice_donor_variant,,ENST00000552438,;ASIC1,splice_donor_variant,,ENST00000447966,;SMARCD1,upstream_gene_variant,,ENST00000550477,;SMARCD1,upstream_gene_variant,,ENST00000394963,;SMARCD1,upstream_gene_variant,,ENST00000551966,;SMARCD1,upstream_gene_variant,,ENST00000551497,;SMARCD1,upstream_gene_variant,,ENST00000381513,;ASIC1,splice_donor_variant,,ENST00000550558,;SMARCD1,upstream_gene_variant,,ENST00000547247,;ASIC1,downstream_gene_variant,,ENST00000548350,;SMARCD1,upstream_gene_variant,,ENST00000547637,;ASIC1,downstream_gene_variant,,ENST00000551199,;ASIC1,downstream_gene_variant,,ENST00000549792,;	.	62	67	SUCCESS
TFCP2	7024	.	GRCh37	12	51492562	51492562	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	22	42	0	ENST00000257915.5:c.1416T>C	p.Asp472=	p.D472=	ENST00000257915	NM_005653.4	472	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS8808.1	1416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCATCACT	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF11	.	.	ENSP00000257915	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000257915	Transcript	.	.	ENSG00000135457	11748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFCP2_HUMAN	TFCP2	HGNC	F8VWL0_HUMAN	.	UPI0000071CCA	SNV	TFCP2,synonymous_variant,p.%3D,ENST00000257915,;TFCP2,synonymous_variant,p.%3D,ENST00000548115,;TFCP2,synonymous_variant,p.%3D,ENST00000307660,;TFCP2,synonymous_variant,p.%3D,ENST00000548108,;TFCP2,synonymous_variant,p.%3D,ENST00000549867,;TFCP2,non_coding_transcript_exon_variant,,ENST00000546822,;	1875	42	52	SUCCESS
KCNA5	3741	.	GRCh37	12	5154056	5154056	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	20	0	ENST00000252321.3:c.743C>T	p.Ser248Phe	p.S248F	ENST00000252321	NM_002234.3	248	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS8536.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTCCGCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR01496,Prints_domain:PR00169	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	deleterious(0.03)	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,missense_variant,p.Ser248Phe,ENST00000252321,;	972	20	35	SUCCESS
SLC4A8	9498	.	GRCh37	12	51865212	51865212	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	55	0	ENST00000453097.2:c.1800A>G	p.Leu600=	p.L600=	ENST00000453097	NM_001039960.2	600	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS44890.1	1800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTAATTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834	.	.	ENSP00000405812	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,synonymous_variant,p.%3D,ENST00000394856,;SLC4A8,synonymous_variant,p.%3D,ENST00000453097,;SLC4A8,synonymous_variant,p.%3D,ENST00000535225,;SLC4A8,synonymous_variant,p.%3D,ENST00000514353,;SLC4A8,synonymous_variant,p.%3D,ENST00000358657,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546663,;SLC4A8,downstream_gene_variant,,ENST00000550211,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;	2017	55	55	SUCCESS
KRT121P	0	.	GRCh37	12	52646243	52646243	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	36	0	ENST00000257935.6:n.1369T>A		p.*457*	ENST00000257935				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8822.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCACCGCG	NONE	.	3538	.	.	.	ENSP00000329243	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331817	Transcript	.	.	ENSG00000135480	6445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C7_HUMAN	KRT7	HGNC	.	.	UPI000013CF9E	SNV	KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;KRT7,downstream_gene_variant,,ENST00000331817,;KRT121P,non_coding_transcript_exon_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000550153,;KRT7,downstream_gene_variant,,ENST00000552322,;KRT7,downstream_gene_variant,,ENST00000548657,;KRT7,downstream_gene_variant,,ENST00000549127,;KRT7,downstream_gene_variant,,ENST00000549638,;KRT121P,non_coding_transcript_exon_variant,,ENST00000534226,;KRT121P,non_coding_transcript_exon_variant,,ENST00000257935,;	.	36	36	SUCCESS
KRT81	3887	.	GRCh37	12	52682242	52682242	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	79	0	ENST00000327741.5:c.640-2A>G		p.X214_splice	ENST00000327741	NM_002281.3	214		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31805.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGGAAA	NONE	.	.	.	.	.	ENSP00000369349	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327741	Transcript	.	.	ENSG00000205426	6458	.	.	HIGH	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT81_HUMAN	KRT81	HGNC	Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI0000DBEEF8	SNV	KRT81,splice_acceptor_variant,,ENST00000327741,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;	.	79	77	SUCCESS
KRT86	3892	.	GRCh37	12	52698804	52698804	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs202150817	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	68	0	ENST00000293525.5:c.728A>G	p.Tyr243Cys	p.Y243C	ENST00000293525	NM_002284.3	243	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS41785.1	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTATGAGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038	.	.	ENSP00000293525	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,missense_variant,p.Tyr243Cys,ENST00000293525,;KRT86,missense_variant,p.Tyr243Cys,ENST00000423955,;KRT86,missense_variant,p.Tyr243Cys,ENST00000544024,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	780	68	52	SUCCESS
KRT6C	286887	.	GRCh37	12	52862953	52862953	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	54	125	0	ENST00000252250.6:c.1588A>T	p.Ser530Cys	p.S530C	ENST00000252250	NM_173086.4	530	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS8829.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141	.	.	ENSP00000252250	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000252250	Transcript	.	.	ENSG00000170465	20406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	K2C6C_HUMAN	KRT6C	HGNC	.	.	UPI00001AE73F	SNV	KRT6C,missense_variant,p.Ser530Cys,ENST00000252250,;KRT6C,downstream_gene_variant,,ENST00000553087,;	1636	125	114	SUCCESS
KRT72	140807	.	GRCh37	12	52979933	52979933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	53	0	ENST00000293745.2:c.1369G>T	p.Gly457Trp	p.G457W	ENST00000293745	NM_080747.2	457	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS8833.1	1369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCCAGCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239	.	.	ENSP00000293745	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000293745	Transcript	.	.	ENSG00000170486	28932	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	K2C72_HUMAN	KRT72	HGNC	B4DXK4_HUMAN	.	UPI0000055AC8	SNV	KRT72,missense_variant,p.Gly457Trp,ENST00000537672,;KRT72,missense_variant,p.Gly269Trp,ENST00000398066,;KRT72,missense_variant,p.Gly457Trp,ENST00000293745,;KRT72,missense_variant,p.Gly415Trp,ENST00000354310,;KRT72,3_prime_UTR_variant,,ENST00000550829,;	1455	53	49	SUCCESS
KRT73	319101	.	GRCh37	12	53010081	53010081	+	synonymous_variant	Silent	SNP	A	A	G	rs746449198	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	45	112	0	ENST00000305748.3:c.531T>C	p.Asn177=	p.N177=	ENST00000305748	NM_175068.2	177	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS8834.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTATTCTT	NONE	byFrequency	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Pfam_domain:PF00038,Superfamily_domains:SSF64593	.	.	ENSP00000307014	.	2/9	.	.	.	.	.	.	.	.	rs746449198	2/9	PASS	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,synonymous_variant,p.%3D,ENST00000305748,;KRT73,upstream_gene_variant,,ENST00000552855,;RP11-641A6.2,downstream_gene_variant,,ENST00000549180,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;RP11-641A6.2,downstream_gene_variant,,ENST00000552364,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	566	112	82	SUCCESS
KRT1	3848	.	GRCh37	12	53069400	53069400	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	rs763592514	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	65	0	ENST00000252244.3:c.1512T>G		p.X504_splice	ENST00000252244	NM_006121.3	504	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS8836.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAGCTGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF95,hmmpanther:PTHR23239	.	.	ENSP00000252244	.	9/9	.	.	.	.	.	.	.	.	rs763592514	9/9	PASS	ENST00000252244	Transcript	.	.	ENSG00000167768	6412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C1_HUMAN	KRT1	HGNC	H6VRG1_HUMAN	.	UPI000013CD4D	SNV	KRT1,synonymous_variant,p.%3D,ENST00000252244,;KRT1,downstream_gene_variant,,ENST00000548765,;	1571	66	49	SUCCESS
KRT77	374454	.	GRCh37	12	53086355	53086355	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	42	0	ENST00000341809.3:c.1277A>G	p.Gln426Arg	p.Q426R	ENST00000341809	NM_175078.2	426	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS8837.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTGCCAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF87,hmmpanther:PTHR23239,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01276	.	.	ENSP00000342710	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000341809	Transcript	.	.	ENSG00000189182	20411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.74)	.	tolerated(0.08)	.	K2C1B_HUMAN	KRT77	HGNC	F5GY66_HUMAN	.	UPI00001D797A	SNV	KRT77,missense_variant,p.Gln426Arg,ENST00000341809,;KRT77,missense_variant,p.Gln193Arg,ENST00000537195,;RP11-641A6.3,upstream_gene_variant,,ENST00000547533,;KRT77,3_prime_UTR_variant,,ENST00000553168,;KRT77,downstream_gene_variant,,ENST00000550823,;	1306	42	40	SUCCESS
KRT3	3850	.	GRCh37	12	53189820	53189820	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	27	0	ENST00000417996.2:c.7A>T	p.Arg3Ter	p.R3*	ENST00000417996	NM_057088.2	3	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS44895.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCTGCTCA	NONE	.	.	.	.	.	ENSP00000413479	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000417996	Transcript	.	.	ENSG00000186442	6440	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C3_HUMAN	KRT3	HGNC	.	.	UPI000013EEC8	SNV	KRT3,stop_gained,p.Arg3Ter,ENST00000309505,;KRT3,stop_gained,p.Arg3Ter,ENST00000417996,;	82	27	17	SUCCESS
SOAT2	8435	.	GRCh37	12	53515148	53515148	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	85	0	ENST00000301466.3:c.1199A>G	p.Asp400Gly	p.D400G	ENST00000301466	NM_003578.3	400	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS8847.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGACTGGC	NONE	.	.	hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10,Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230	.	.	ENSP00000301466	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000301466	Transcript	.	.	ENSG00000167780	11178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	deleterious(0.03)	.	SOAT2_HUMAN	SOAT2	HGNC	.	.	UPI0000135B61	SNV	SOAT2,missense_variant,p.Asp400Gly,ENST00000301466,;SOAT2,3_prime_UTR_variant,,ENST00000542365,;	1259	85	77	SUCCESS
RARG	5916	.	GRCh37	12	53605571	53605571	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	36	0	ENST00000425354.2:c.1254C>G	p.Asn418Lys	p.N418K	ENST00000425354	NM_000966.5	418	aaC/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS8850.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGTTCTC	NONE	.	.	hmmpanther:PTHR24082:SF116,hmmpanther:PTHR24082,Gene3D:1.10.565.10,Prints_domain:PR01292	.	.	ENSP00000388510	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000425354	Transcript	.	.	ENSG00000172819	9866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	RARG_HUMAN	RARG	HGNC	H3BMY6_HUMAN,H3BMK1_HUMAN,A8K3H3_HUMAN	.	UPI000000105D	SNV	RARG,missense_variant,p.Asn418Lys,ENST00000394426,;RARG,missense_variant,p.Asn407Lys,ENST00000338561,;RARG,missense_variant,p.Asn418Lys,ENST00000425354,;RARG,missense_variant,p.Asn346Lys,ENST00000327550,;RARG,missense_variant,p.Asn396Lys,ENST00000543726,;ITGB7,upstream_gene_variant,,ENST00000267082,;ITGB7,upstream_gene_variant,,ENST00000549086,;ITGB7,upstream_gene_variant,,ENST00000422257,;ITGB7,upstream_gene_variant,,ENST00000552972,;ITGB7,upstream_gene_variant,,ENST00000338737,;RARG,non_coding_transcript_exon_variant,,ENST00000543762,;RARG,downstream_gene_variant,,ENST00000550265,;RARG,downstream_gene_variant,,ENST00000548284,;RARG,downstream_gene_variant,,ENST00000548317,;ITGB7,upstream_gene_variant,,ENST00000549462,;ITGB7,upstream_gene_variant,,ENST00000589179,;ITGB7,upstream_gene_variant,,ENST00000542497,;RARG,downstream_gene_variant,,ENST00000551580,;	1742	36	26	SUCCESS
HOXC10	3226	.	GRCh37	12	54379618	54379618	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	37	115	0	ENST00000303460.4:c.575T>A	p.Leu192Gln	p.L192Q	ENST00000303460	NM_017409.3	192	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8868.1	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTGGGGG	NONE	.	.	hmmpanther:PTHR24326:SF135,hmmpanther:PTHR24326	.	.	ENSP00000307321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000303460	Transcript	.	.	ENSG00000180818	5122	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.58)	.	HXC10_HUMAN	HOXC10	HGNC	Q53XI4_HUMAN,D6RAG4_HUMAN	.	UPI000012CF7C	SNV	HOXC10,missense_variant,p.Leu192Gln,ENST00000303460,;HOXC10,missense_variant,p.Leu80Gln,ENST00000515593,;HOXC6,upstream_gene_variant,,ENST00000504315,;RP11-834C11.12,upstream_gene_variant,,ENST00000513209,;HOXC-AS3,upstream_gene_variant,,ENST00000514702,;HOXC-AS3,upstream_gene_variant,,ENST00000513165,;HOXC-AS3,upstream_gene_variant,,ENST00000509870,;HOXC-AS3,upstream_gene_variant,,ENST00000567780,;HOXC10,upstream_gene_variant,,ENST00000513413,;HOXC10,upstream_gene_variant,,ENST00000514415,;HOXC10,upstream_gene_variant,,ENST00000511575,;	649	115	73	SUCCESS
NEUROD4	58158	.	GRCh37	12	55421151	55421151	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	80	0	ENST00000242994.3:c.928G>T	p.Asp310Tyr	p.D310Y	ENST00000242994	NM_021191.2	310	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS8886.1	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATAGACATG	NONE	.	.	PIRSF_domain:PIRSF015618	.	.	ENSP00000242994	.	2/2	.	.	.	.	.	.	.	.	COSM1362849	2/2	PASS	ENST00000242994	Transcript	.	.	ENSG00000123307	13802	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.935)	.	deleterious(0)	1	NDF4_HUMAN	NEUROD4	HGNC	Q8IW56_HUMAN	.	UPI000013CB1E	SNV	NEUROD4,missense_variant,p.Asp310Tyr,ENST00000242994,;	1306	80	73	SUCCESS
OR6C3	254786	.	GRCh37	12	55726148	55726148	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	85	0	ENST00000379667.1:c.664A>G	p.Ile222Val	p.I222V	ENST00000379667	NM_054104.1	222	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31819.1	664	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCATTTTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF39,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000368989	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379667	Transcript	.	.	ENSG00000205329	15437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated_low_confidence(0.06)	.	OR6C3_HUMAN	OR6C3	HGNC	.	.	UPI000016150E	SNV	OR6C3,missense_variant,p.Ile222Val,ENST00000379667,;	664	85	70	SUCCESS
NABP2	79035	.	GRCh37	12	56619992	56619992	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	55	149	0	ENST00000267023.4:c.320A>T	p.Asn107Ile	p.N107I	ENST00000267023	NM_024068.3	107	aAc/aTc	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS8911.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTAACTTCA	NONE	.	.	hmmpanther:PTHR13356,hmmpanther:PTHR13356:SF3,Gene3D:2.40.50.140,Superfamily_domains:SSF50249	.	.	ENSP00000369545	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000380198	Transcript	.	.	ENSG00000139579	28412	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.771)	.	deleterious(0)	.	SOSB1_HUMAN	NABP2	HGNC	C9JT95_HUMAN,C9JMP5_HUMAN	.	UPI000006DDFD	SNV	NABP2,missense_variant,p.Asn107Ile,ENST00000399713,;NABP2,missense_variant,p.Asn107Ile,ENST00000380198,;NABP2,missense_variant,p.Asn107Ile,ENST00000447747,;NABP2,missense_variant,p.Asn107Ile,ENST00000341463,;NABP2,missense_variant,p.Asn107Ile,ENST00000267023,;SLC39A5,upstream_gene_variant,,ENST00000424625,;SLC39A5,upstream_gene_variant,,ENST00000454355,;RNF41,upstream_gene_variant,,ENST00000394013,;SLC39A5,upstream_gene_variant,,ENST00000436633,;SLC39A5,upstream_gene_variant,,ENST00000266980,;RNF41,upstream_gene_variant,,ENST00000551711,;RNF41,upstream_gene_variant,,ENST00000549038,;RNF41,upstream_gene_variant,,ENST00000552244,;SLC39A5,upstream_gene_variant,,ENST00000417965,;SLC39A5,upstream_gene_variant,,ENST00000437277,;RNF41,upstream_gene_variant,,ENST00000345093,;RNF41,upstream_gene_variant,,ENST00000552656,;SLC39A5,upstream_gene_variant,,ENST00000419753,;NABP2,non_coding_transcript_exon_variant,,ENST00000479016,;RNF41,upstream_gene_variant,,ENST00000547967,;RNF41,upstream_gene_variant,,ENST00000548225,;SLC39A5,upstream_gene_variant,,ENST00000493574,;SLC39A5,upstream_gene_variant,,ENST00000481103,;	818	149	112	SUCCESS
TIMELESS	8914	.	GRCh37	12	56827889	56827889	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	35	135	0	ENST00000553532.1:c.66A>G	p.Gly22=	p.G22=	ENST00000553532		22	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS8918.1	66	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCTCCCTC	NONE	.	.	Pfam_domain:PF04821,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,synonymous_variant,p.%3D,ENST00000553532,;TIMELESS,synonymous_variant,p.%3D,ENST00000554616,;TIMELESS,synonymous_variant,p.%3D,ENST00000229201,;	217	135	89	SUCCESS
TAC3	6866	.	GRCh37	12	57407370	57407370	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	44	0	ENST00000300108.3:c.200C>A	p.Ala67Asp	p.A67D	ENST00000300108		67	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS8928.1	200	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTAGCCTGG	NONE	.	.	hmmpanther:PTHR15536:SF1,hmmpanther:PTHR15536,PIRSF_domain:PIRSF001843,Prints_domain:PR01828	.	.	ENSP00000404056	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000458521	Transcript	.	.	ENSG00000166863	11521	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.5)	.	tolerated(0.16)	.	TKNK_HUMAN	TAC3	HGNC	Q2UVB8_HUMAN	.	UPI00000312E8	SNV	TAC3,missense_variant,p.Ala67Asp,ENST00000415231,;TAC3,missense_variant,p.Ala67Asp,ENST00000441881,;TAC3,missense_variant,p.Ala67Asp,ENST00000458521,;TAC3,missense_variant,p.Ala67Asp,ENST00000379411,;TAC3,missense_variant,p.Ala67Asp,ENST00000438756,;TAC3,missense_variant,p.Ala67Asp,ENST00000357616,;TAC3,missense_variant,p.Ala67Asp,ENST00000423597,;TAC3,missense_variant,p.Ala67Asp,ENST00000300108,;TAC3,missense_variant,p.Ala67Asp,ENST00000393867,;TAC3,non_coding_transcript_exon_variant,,ENST00000496757,;	360	44	37	SUCCESS
KIF5A	3798	.	GRCh37	12	57970570	57970570	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	67	0	ENST00000455537.2:c.2225T>A	p.Leu742Gln	p.L742Q	ENST00000455537	NM_004984.2	742	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS8945.1	2225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTAGAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317	.	.	ENSP00000408979	.	20/29	.	.	.	.	.	.	.	.	.	20/29	PASS	ENST00000455537	Transcript	.	.	ENSG00000155980	6323	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.106)	.	tolerated(0.77)	.	KIF5A_HUMAN	KIF5A	HGNC	.	.	UPI000013DE4C	SNV	KIF5A,missense_variant,p.Leu742Gln,ENST00000455537,;KIF5A,missense_variant,p.Leu653Gln,ENST00000286452,;KIF5A,upstream_gene_variant,,ENST00000552227,;	2499	67	56	SUCCESS
DTX3	196403	.	GRCh37	12	58001020	58001020	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	46	0	ENST00000337737.3:c.374T>A	p.Leu125His	p.L125H	ENST00000337737	NM_178502.2	125	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS41800.1	374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTCCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12622	.	.	ENSP00000447873	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated_low_confidence(0.55)	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,missense_variant,p.Leu125His,ENST00000337737,;DTX3,missense_variant,p.Leu125His,ENST00000548804,;DTX3,missense_variant,p.Leu125His,ENST00000548198,;DTX3,missense_variant,p.Leu128His,ENST00000549583,;DTX3,missense_variant,p.Leu118His,ENST00000548478,;DTX3,missense_variant,p.Leu128His,ENST00000551632,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000550596,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;DTX3,upstream_gene_variant,,ENST00000550300,;PIP4K2C,downstream_gene_variant,,ENST00000540759,;AC025165.8,downstream_gene_variant,,ENST00000356672,;	1878	46	42	SUCCESS
AGAP2	116986	.	GRCh37	12	58121778	58121778	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	47	0	ENST00000547588.1:c.2708A>T	p.Gln903Leu	p.Q903L	ENST00000547588	NM_001122772.2	903	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS44932.1	2708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTGGACC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000449241	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000547588	Transcript	.	.	ENSG00000135439	16921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.054)	.	tolerated(0.05)	.	.	AGAP2	HGNC	F8VVT9_HUMAN,B3KVD5_HUMAN	.	UPI00001AF80C	SNV	AGAP2,missense_variant,p.Gln547Leu,ENST00000257897,;AGAP2,missense_variant,p.Gln747Leu,ENST00000328568,;AGAP2,missense_variant,p.Gln903Leu,ENST00000547588,;AGAP2-AS1,3_prime_UTR_variant,,ENST00000542466,;AGAP2,downstream_gene_variant,,ENST00000549129,;RP11-571M6.8,upstream_gene_variant,,ENST00000548410,;RP11-571M6.8,upstream_gene_variant,,ENST00000602413,;	2708	47	56	SUCCESS
VWF	7450	.	GRCh37	12	6140731	6140731	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	40	81	0	ENST00000261405.5:c.2699G>A	p.Ser900Asn	p.S900N	ENST00000261405	NM_000552.3	900	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS8539.1	2699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTACTGCCG	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Pfam_domain:PF00094,PIRSF_domain:PIRSF002495,SMART_domains:SM00216	.	.	ENSP00000261405	.	21/52	.	.	.	.	.	.	.	.	.	21/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.27)	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,missense_variant,p.Ser900Asn,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;	2954	81	72	SUCCESS
VWF	7450	.	GRCh37	12	6143964	6143964	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs371017187	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	37	106	0	ENST00000261405.5:c.2575A>G	p.Thr859Ala	p.T859A	ENST00000261405	NM_000552.3	859	Aca/Gca	0	C:0.0002	.	.	.	.	C	T/A	protein_coding	YES	CCDS8539.1	2575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGTGCAGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,PIRSF_domain:PIRSF002495,SMART_domains:SM00214,SMART_domains:SM00215,SMART_domains:SM00216	.	C:0	ENSP00000261405	.	20/52	.	.	.	.	.	.	.	.	rs371017187	20/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	deleterious(0)	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,missense_variant,p.Thr859Ala,ENST00000261405,;VWF,intron_variant,,ENST00000538635,;	2830	106	73	SUCCESS
PPM1H	57460	.	GRCh37	12	63083571	63083571	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	58	0	ENST00000228705.6:c.1153A>G	p.Thr385Ala	p.T385A	ENST00000228705	NM_020700.1	385	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS44934.1	1153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGTTGCCA	NONE	.	.	hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,Superfamily_domains:SSF81606	.	.	ENSP00000228705	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000228705	Transcript	.	.	ENSG00000111110	18583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PPM1H_HUMAN	PPM1H	HGNC	.	.	UPI00000557DD	SNV	PPM1H,missense_variant,p.Thr385Ala,ENST00000228705,;PPM1H,non_coding_transcript_exon_variant,,ENST00000551214,;PPM1H,non_coding_transcript_exon_variant,,ENST00000551519,;	1454	58	48	SUCCESS
CD27-AS1	678655	.	GRCh37	12	6559629	6559629	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	35	0	ENST00000535639.1:n.1055G>A		p.*352*	ENST00000535639				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8545.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCCATCC	NONE	.	.	.	.	.	ENSP00000266557	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266557	Transcript	.	.	ENSG00000139193	11922	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD27_HUMAN	CD27	HGNC	.	.	UPI000013D6F7	SNV	CD27,intron_variant,,ENST00000266557,;TAPBPL,upstream_gene_variant,,ENST00000544021,;TAPBPL,upstream_gene_variant,,ENST00000266556,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000545339,;CD27-AS1,intron_variant,,ENST00000399492,;CD27,intron_variant,,ENST00000541233,;TAPBPL,upstream_gene_variant,,ENST00000545700,;TAPBPL,upstream_gene_variant,,ENST00000539384,;TAPBPL,upstream_gene_variant,,ENST00000543567,;TAPBPL,upstream_gene_variant,,ENST00000544826,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000535639,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000537003,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000538616,;CD27-AS1,intron_variant,,ENST00000504270,;CD27-AS1,intron_variant,,ENST00000536388,;CD27-AS1,upstream_gene_variant,,ENST00000447687,;CD27-AS1,upstream_gene_variant,,ENST00000417058,;	.	35	34	SUCCESS
B4GALNT3	283358	.	GRCh37	12	660161	660161	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	101	0	ENST00000266383.5:c.1071T>C	p.Asp357=	p.D357=	ENST00000266383	NM_173593.3	357	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS8504.1	1071	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATGGGCT	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369	.	.	ENSP00000266383	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,synonymous_variant,p.%3D,ENST00000322843,;B4GALNT3,synonymous_variant,p.%3D,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000544638,;B4GALNT3,upstream_gene_variant,,ENST00000535402,;B4GALNT3,downstream_gene_variant,,ENST00000535680,;	1084	101	60	SUCCESS
B4GALNT3	283358	.	GRCh37	12	662644	662644	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	74	0	ENST00000266383.5:c.1555A>G	p.Ser519Gly	p.S519G	ENST00000266383	NM_173593.3	519	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS8504.1	1555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCAGCCCT	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369	.	.	ENSP00000266383	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.09)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Ser422Gly,ENST00000322843,;B4GALNT3,missense_variant,p.Ser519Gly,ENST00000266383,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	1568	74	50	SUCCESS
B4GALNT3	283358	.	GRCh37	12	668524	668524	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753133618	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	67	160	1	ENST00000266383.5:c.2825G>C	p.Gly942Ala	p.G942A	ENST00000266383	NM_173593.3	942	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS8504.1	2825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTGGGGGCA	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000266383	.	19/20	.	.	.	.	.	.	.	.	rs753133618	19/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Gly942Ala,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;NINJ2,downstream_gene_variant,,ENST00000305108,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;	2838	161	154	SUCCESS
CAND1	55832	.	GRCh37	12	67703830	67703830	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	116	0	ENST00000545606.1:c.3175A>T	p.Arg1059Ter	p.R1059*	ENST00000545606	NM_018448.3	1059	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS8977.1	3175	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTAGAAAG	NONE	.	.	hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Pfam_domain:PF08623,Superfamily_domains:SSF48371	.	.	ENSP00000442318	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000545606	Transcript	.	.	ENSG00000111530	30688	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAND1_HUMAN	CAND1	HGNC	F5H6I6_HUMAN,B3KMG3_HUMAN	.	UPI0000037CC5	SNV	CAND1,stop_gained,p.Arg1059Ter,ENST00000545606,;CAND1,stop_gained,p.Arg599Ter,ENST00000544619,;CAND1,3_prime_UTR_variant,,ENST00000540319,;	3612	116	106	SUCCESS
CD4	920	.	GRCh37	12	6923493	6923493	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	25	0	ENST00000011653.4:c.373+27T>C		p.*125*	ENST00000011653	NM_000616.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8562.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGATACCTC	NONE	.	.	.	.	.	ENSP00000011653	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000011653	Transcript	.	.	ENSG00000010610	1678	.	.	MODIFIER	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD4_HUMAN	CD4	HGNC	Q6LCP8_HUMAN,Q13969_HUMAN,F5GYA9_HUMAN,B4DT49_HUMAN	.	UPI0000001294	SNV	CD4,intron_variant,,ENST00000541982,;CD4,intron_variant,,ENST00000011653,;CD4,non_coding_transcript_exon_variant,,ENST00000538827,;CD4,intron_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,non_coding_transcript_exon_variant,,ENST00000543755,;CD4,non_coding_transcript_exon_variant,,ENST00000544344,;CD4,intron_variant,,ENST00000437800,;	.	25	38	SUCCESS
USP5	8078	.	GRCh37	12	6974028	6974028	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	28	0	ENST00000229268.8:c.2387A>T	p.Asp796Val	p.D796V	ENST00000229268	NM_001098536.1	796	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS41743.1	2387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGATGGTC	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001	.	.	ENSP00000229268	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,missense_variant,p.Asp796Val,ENST00000229268,;USP5,missense_variant,p.Asp773Val,ENST00000389231,;TPI1,upstream_gene_variant,,ENST00000396705,;TPI1,upstream_gene_variant,,ENST00000229270,;TPI1,upstream_gene_variant,,ENST00000535434,;TPI1,upstream_gene_variant,,ENST00000488464,;TPI1,upstream_gene_variant,,ENST00000495834,;TPI1,upstream_gene_variant,,ENST00000462761,;TPI1,upstream_gene_variant,,ENST00000493987,;USP5,downstream_gene_variant,,ENST00000542087,;USP5,downstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000542371,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;TPI1,upstream_gene_variant,,ENST00000482209,;	2439	28	28	SUCCESS
YEATS4	8089	.	GRCh37	12	69759665	69759665	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs750935462	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	94	242	0	ENST00000247843.2:c.333+1G>T		p.X111_splice	ENST00000247843	NM_006530.2	111		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8990.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCTGTGAGT	NONE	byFrequency	.	.	.	.	ENSP00000247843	.	.	.	.	.	.	.	.	.	.	rs750935462	.	PASS	ENST00000247843	Transcript	.	.	ENSG00000127337	24859	.	.	HIGH	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YETS4_HUMAN	YEATS4	HGNC	F8VTR4_HUMAN	.	UPI0000043800	SNV	YEATS4,splice_donor_variant,,ENST00000247843,;YEATS4,splice_donor_variant,,ENST00000549685,;YEATS4,splice_donor_variant,,ENST00000552955,;YEATS4,intron_variant,,ENST00000548020,;YEATS4,downstream_gene_variant,,ENST00000552949,;	.	242	250	SUCCESS
LRRC10	376132	.	GRCh37	12	70004105	70004105	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1256806283	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	42	0	ENST00000361484.3:c.514A>G	p.Ile172Val	p.I172V	ENST00000361484	NM_201550.2	172	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31856.1	514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGATGGTCC	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00364,SMART_domains:SM00369,Pfam_domain:PF00560,Gene3D:3.80.10.10,hmmpanther:PTHR23155,PROSITE_profiles:PS51450	.	.	ENSP00000355166	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361484	Transcript	.	.	ENSG00000198812	20264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.429)	.	tolerated(0.05)	.	LRC10_HUMAN	LRRC10	HGNC	Q3KP57_HUMAN,Q3B873_HUMAN	.	UPI00001D79A1	SNV	LRRC10,missense_variant,p.Ile172Val,ENST00000361484,;	838	42	45	SUCCESS
ENO2	2026	.	GRCh37	12	7027101	7027101	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	99	0	ENST00000229277.1:c.445-3C>A		p.X149_splice	ENST00000229277	NM_001975.2	149		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8570.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCAGGCC	NONE	.	.	.	.	.	ENSP00000437402	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535366	Transcript	.	.	ENSG00000111674	3353	.	.	LOW	5/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ENOG_HUMAN	ENO2	HGNC	Q6FHV6_HUMAN,F5H1C3_HUMAN	.	UPI000013C8F1	SNV	ENO2,splice_region_variant,,ENST00000541477,;ENO2,splice_region_variant,,ENST00000544774,;ENO2,splice_region_variant,,ENST00000229277,;ENO2,splice_region_variant,,ENST00000538763,;ENO2,splice_region_variant,,ENST00000535366,;ENO2,intron_variant,,ENST00000545045,;LRRC23,downstream_gene_variant,,ENST00000436789,;LRRC23,downstream_gene_variant,,ENST00000007969,;LRRC23,downstream_gene_variant,,ENST00000443597,;ENO2,upstream_gene_variant,,ENST00000543975,;LRRC23,downstream_gene_variant,,ENST00000429740,;ENO2,downstream_gene_variant,,ENST00000537688,;LRRC23,downstream_gene_variant,,ENST00000323702,;ENO2,upstream_gene_variant,,ENST00000534977,;LRRC23,downstream_gene_variant,,ENST00000472633,;ENO2,splice_region_variant,,ENST00000441285,;ENO2,upstream_gene_variant,,ENST00000535275,;ENO2,downstream_gene_variant,,ENST00000542509,;ENO2,downstream_gene_variant,,ENST00000537838,;ENO2,downstream_gene_variant,,ENST00000536199,;LRRC23,downstream_gene_variant,,ENST00000451681,;LRRC23,downstream_gene_variant,,ENST00000428946,;ENO2,downstream_gene_variant,,ENST00000539713,;	.	99	76	SUCCESS
PTPRB	5787	.	GRCh37	12	70983979	70983979	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	31	120	0	ENST00000261266.5:c.1161del	p.Asn387LysfsTer5	p.N387Kfs*5	ENST00000261266	NM_002837.4	387	aaT/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS44943.1	1815	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCATTATTGTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	deletion	PTPRB,frameshift_variant,p.Asn387LysfsTer5,ENST00000538708,;PTPRB,frameshift_variant,p.Asn387LysfsTer5,ENST00000261266,;PTPRB,frameshift_variant,p.Asn605LysfsTer5,ENST00000334414,;PTPRB,frameshift_variant,p.Asn605LysfsTer5,ENST00000550358,;PTPRB,frameshift_variant,p.Asn604LysfsTer5,ENST00000551525,;PTPRB,frameshift_variant,p.Asn484LysfsTer5,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;	1860	120	116	SUCCESS
TRHDE	29953	.	GRCh37	12	73012775	73012775	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	114	282	0	ENST00000261180.4:c.2291T>C	p.Leu764Pro	p.L764P	ENST00000261180	NM_013381.2	764	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS9004.1	2291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTAGATA	BUFFER|p.P763S|c.2287C>T|4	.	.	Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	.	.	ENSP00000261180	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000261180	Transcript	.	.	ENSG00000072657	30748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0)	.	TRHDE_HUMAN	TRHDE	HGNC	.	.	UPI0000136D52	SNV	TRHDE,missense_variant,p.Leu764Pro,ENST00000261180,;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;	2387	282	241	SUCCESS
CAPS2	84698	.	GRCh37	12	75692738	75692738	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200022333	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	87	0	ENST00000409445.3:c.920G>A	p.Arg307His	p.R307H	ENST00000409445	NM_032606.3	307	cGt/cAt	0	.	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS9008.2	920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCACGTCCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891	T:0.002	.	ENSP00000386959	T:0	11/18	.	.	.	.	.	.	.	.	rs200022333	11/18	PASS	ENST00000409445	Transcript	.	T:0.0004	ENSG00000180881	16471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	T:0	tolerated(0.3)	.	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,missense_variant,p.Arg307His,ENST00000409445,;CAPS2,missense_variant,p.Arg75His,ENST00000393284,;CAPS2,intron_variant,,ENST00000409799,;CAPS2,intron_variant,,ENST00000442339,;CAPS2,downstream_gene_variant,,ENST00000552497,;RP11-560G2.1,downstream_gene_variant,,ENST00000549953,;RP11-560G2.1,downstream_gene_variant,,ENST00000534648,;CAPS2,intron_variant,,ENST00000409004,;CAPS2,3_prime_UTR_variant,,ENST00000328705,;CAPS2,intron_variant,,ENST00000336815,;	1117	87	65	SUCCESS
CAPS2	84698	.	GRCh37	12	75716791	75716791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	89	264	0	ENST00000409445.3:c.311G>T	p.Cys104Phe	p.C104F	ENST00000409445	NM_032606.3	104	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS9008.2	311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACATGGT	NONE	.	.	hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891	.	.	ENSP00000386959	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000409445	Transcript	.	.	ENSG00000180881	16471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.39)	.	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,missense_variant,p.Cys104Phe,ENST00000409445,;CAPS2,5_prime_UTR_variant,,ENST00000393284,;CAPS2,intron_variant,,ENST00000436898,;CAPS2,intron_variant,,ENST00000409799,;CAPS2,intron_variant,,ENST00000442339,;CAPS2,intron_variant,,ENST00000552497,;CAPS2,intron_variant,,ENST00000551829,;CAPS2,intron_variant,,ENST00000486196,;CAPS2,upstream_gene_variant,,ENST00000409004,;CAPS2,non_coding_transcript_exon_variant,,ENST00000493070,;CAPS2,intron_variant,,ENST00000336815,;CAPS2,intron_variant,,ENST00000328705,;	508	265	261	SUCCESS
CAPS2	84698	.	GRCh37	12	75720286	75720286	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	13	64	0	ENST00000409445.3:c.50G>C	p.Gly17Ala	p.G17A	ENST00000409445	NM_032606.3	17	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS9008.2	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCCTGTG	NONE	.	.	.	.	.	ENSP00000386959	.	2/18	.	.	.	.	.	.	.	.	COSM943473	2/18	PASS	ENST00000409445	Transcript	.	.	ENSG00000180881	16471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated_low_confidence(0.25)	1	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,missense_variant,p.Gly17Ala,ENST00000409445,;CAPS2,missense_variant,p.Gly5Ala,ENST00000409799,;CAPS2,5_prime_UTR_variant,,ENST00000436898,;CAPS2,intron_variant,,ENST00000442339,;CAPS2,intron_variant,,ENST00000552497,;CAPS2,intron_variant,,ENST00000551829,;CAPS2,upstream_gene_variant,,ENST00000393284,;CAPS2,intron_variant,,ENST00000486196,;CAPS2,non_coding_transcript_exon_variant,,ENST00000493070,;CAPS2,intron_variant,,ENST00000336815,;CAPS2,intron_variant,,ENST00000328705,;	247	64	49	SUCCESS
GLIPR1L1	256710	.	GRCh37	12	75728612	75728612	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs143627655	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	45	102	0	ENST00000378695.4:c.104A>T	p.Asp35Val	p.D35V	ENST00000378695		35	gAc/gTc	0	G:0.0018	G:0.0038	.	G:0	.	T	D/V	protein_coding	YES	CCDS9009.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGACAACT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF65,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797	G:0	G:0.0001	ENSP00000310770	G:0	1/5	.	.	.	.	.	.	.	.	rs143627655	1/5	PASS	ENST00000312442	Transcript	.	G:0.0010	ENSG00000173401	28392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.522)	G:0	deleterious(0.01)	.	GPRL1_HUMAN	GLIPR1L1	HGNC	.	.	UPI00000721B3	SNV	GLIPR1L1,missense_variant,p.Asp35Val,ENST00000378695,;GLIPR1L1,missense_variant,p.Asp35Val,ENST00000312442,;CAPS2,intron_variant,,ENST00000436898,;CAPS2,intron_variant,,ENST00000442339,;CAPS2,intron_variant,,ENST00000552497,;CAPS2,intron_variant,,ENST00000551829,;CAPS2,upstream_gene_variant,,ENST00000409445,;CAPS2,upstream_gene_variant,,ENST00000409799,;CAPS2,intron_variant,,ENST00000486196,;CAPS2,intron_variant,,ENST00000336815,;CAPS2,intron_variant,,ENST00000328705,;CAPS2,upstream_gene_variant,,ENST00000493070,;	150	102	98	SUCCESS
NANOGNB	360030	.	GRCh37	12	7923072	7923072	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1273473394	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	69	0	ENST00000382119.1:c.473A>G	p.Asn158Ser	p.N158S	ENST00000382119	NM_001145465.1	158	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS44826.1	473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATAATAAAG	NONE	.	.	Superfamily_domains:SSF46689,Gene3D:1.10.10.60,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF16,PROSITE_profiles:PS50071	.	.	ENSP00000371553	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000382119	Transcript	.	.	ENSG00000205857	24958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0.04)	.	NANGN_HUMAN	NANOGNB	HGNC	.	.	UPI00001B3DAD	SNV	NANOGNB,missense_variant,p.Asn158Ser,ENST00000382119,;	543	69	65	SUCCESS
PTPRQ	374462	.	GRCh37	12	81042674	81042674	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	80	241	0	ENST00000266688.5:c.5904-2A>T		p.X1968_splice	ENST00000266688		1968		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCAGGTTA	NONE	.	.	.	.	.	ENSP00000266688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	HIGH	40/49	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,splice_acceptor_variant,,ENST00000266688,;PTPRQ,intron_variant,,ENST00000547881,;PTPRQ,intron_variant,,ENST00000549355,;	.	241	215	SUCCESS
CLEC4A	50856	.	GRCh37	12	8276418	8276418	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	24	0	ENST00000229332.5:c.-57G>T		p.*19*	ENST00000229332	NM_016184.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8590.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGTTTTA	NONE	.	.	.	.	.	ENSP00000229332	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000229332	Transcript	.	.	ENSG00000111729	13257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC4A_HUMAN	CLEC4A	HGNC	.	.	UPI000003C38E	SNV	CLEC4A,5_prime_UTR_variant,,ENST00000229332,;CLEC4A,upstream_gene_variant,,ENST00000546339,;CLEC4A,upstream_gene_variant,,ENST00000345999,;CLEC4A,upstream_gene_variant,,ENST00000352620,;CLEC4A,upstream_gene_variant,,ENST00000360500,;	191	24	23	SUCCESS
RP11-266K4.9	0	.	GRCh37	12	8391337	8391337	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	66	1	ENST00000304751.9:n.590C>G		p.*197*	ENST00000304751				0	.	.	.	.	.	G	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGCTTCAC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304751	Transcript	.	.	ENSG00000215241	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-266K4.9	Clone_based_vega_gene	.	.	.	SNV	RP11-266K4.9,non_coding_transcript_exon_variant,,ENST00000536034,;RP11-266K4.9,non_coding_transcript_exon_variant,,ENST00000304751,;RP11-266K4.9,downstream_gene_variant,,ENST00000399866,;FAM86FP,non_coding_transcript_exon_variant,,ENST00000427893,;FAM86FP,non_coding_transcript_exon_variant,,ENST00000338711,;	590	67	59	SUCCESS
MGAT4C	25834	.	GRCh37	12	86373569	86373569	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	76	0	ENST00000548651.1:c.935T>A	p.Met312Lys	p.M312K	ENST00000548651	NM_013244.3	312	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS9030.1	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCATGTGC	NONE	.	.	hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF8,Pfam_domain:PF04666	.	.	ENSP00000474896	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000604798	Transcript	.	.	ENSG00000182050	30871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.919)	.	deleterious(0)	.	MGT4C_HUMAN	MGAT4C	HGNC	F8VWY2_HUMAN	.	UPI00001B002C	SNV	MGAT4C,missense_variant,p.Met312Lys,ENST00000548651,;MGAT4C,missense_variant,p.Met312Lys,ENST00000552808,;MGAT4C,missense_variant,p.Met312Lys,ENST00000332156,;MGAT4C,missense_variant,p.Met312Lys,ENST00000604798,;MGAT4C,missense_variant,p.Met312Lys,ENST00000547225,;MGAT4C,missense_variant,p.His100Gln,ENST00000552435,;MGAT4C,missense_variant,p.Met312Lys,ENST00000549405,;MGAT4C,missense_variant,p.Met341Lys,ENST00000393205,;	2140	76	61	SUCCESS
CEP290	80184	.	GRCh37	12	88513944	88513944	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	108	289	0	ENST00000552810.1:c.1469A>G	p.Glu490Gly	p.E490G	ENST00000552810	NM_025114.3	490	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS55858.1	1469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATTCAAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879	.	.	ENSP00000448012	.	15/54	.	.	.	.	.	.	.	.	.	15/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,missense_variant,p.Glu212Gly,ENST00000604024,;CEP290,missense_variant,p.Glu490Gly,ENST00000552810,;CEP290,missense_variant,p.Glu490Gly,ENST00000309041,;CEP290,5_prime_UTR_variant,,ENST00000397838,;CEP290,missense_variant,p.Glu456Gly,ENST00000547926,;	1813	289	253	SUCCESS
LUM	4060	.	GRCh37	12	91502590	91502590	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	77	0	ENST00000266718.4:c.167T>A	p.Leu56Gln	p.L56Q	ENST00000266718	NM_002345.3	56	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS9038.1	167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCAGCTCA	NONE	.	.	hmmpanther:PTHR24371:SF54,hmmpanther:PTHR24371,Pfam_domain:PF01462,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	.	.	ENSP00000266718	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.889)	.	deleterious(0.03)	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,missense_variant,p.Leu56Gln,ENST00000266718,;LUM,intron_variant,,ENST00000546642,;LUM,intron_variant,,ENST00000548071,;	622	77	56	SUCCESS
BTG1	694	.	GRCh37	12	92539312	92539324	+	5_prime_UTR_variant	5'UTR	DEL	GGGGGCGGCGTGC	GGGGGCGGCGTGC	-	rs752167067	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	GGGGGCGGCGTGC	GGGGGCGGCGTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	41	0	ENST00000256015.3:c.-13_-1del		p.*5*	ENST00000256015	NM_001731.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9043.1	.	INDELOCATOR|VARSCANI	.	ATGCATGGGGGCGGCGTGCGGGGG	NONE	byFrequency	.	.	.	.	ENSP00000256015	.	1/2	.	.	.	.	.	.	.	.	rs752167067	1/2	PASS	ENST00000256015	Transcript	.	.	ENSG00000133639	1130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTG1_HUMAN	BTG1	HGNC	Q6IBC8_HUMAN,F8W0U7_HUMAN	.	UPI00000246C2	deletion	BTG1,5_prime_UTR_variant,,ENST00000256015,;BTG1,upstream_gene_variant,,ENST00000552315,;C12orf79,upstream_gene_variant,,ENST00000549802,;C12orf79,upstream_gene_variant,,ENST00000551563,;C12orf79,upstream_gene_variant,,ENST00000546975,;RP11-796E2.4,upstream_gene_variant,,ENST00000501008,;RP11-796E2.4,upstream_gene_variant,,ENST00000499685,;C12orf79,upstream_gene_variant,,ENST00000551843,;C12orf79,upstream_gene_variant,,ENST00000553207,;C12orf79,upstream_gene_variant,,ENST00000552106,;C12orf79,upstream_gene_variant,,ENST00000548552,;	350-362	41	41	SUCCESS
UBE2N	7334	.	GRCh37	12	93804888	93804888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	78	180	0	ENST00000318066.2:c.218C>T	p.Thr73Ile	p.T73I	ENST00000318066	NM_003348.3	73	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS31875.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGTCATG	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000316176	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000318066	Transcript	.	.	ENSG00000177889	12492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	UBE2N_HUMAN	UBE2N	HGNC	F8VQQ8_HUMAN	.	UPI0000003EA3	SNV	UBE2N,missense_variant,p.Thr10Ile,ENST00000549833,;UBE2N,missense_variant,p.Thr73Ile,ENST00000550657,;UBE2N,missense_variant,p.Thr73Ile,ENST00000552442,;UBE2N,missense_variant,p.Thr73Ile,ENST00000318066,;UBE2N,upstream_gene_variant,,ENST00000548946,;UBE2N,intron_variant,,ENST00000549490,;	596	180	176	SUCCESS
METAP2	10988	.	GRCh37	12	95905678	95905678	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	65	0	ENST00000323666.5:c.972A>C	p.Pro324=	p.P324=	ENST00000323666	NM_006838.3	324	ccA/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9052.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAATCCG	NONE	.	.	HAMAP:MF_03175,hmmpanther:PTHR10804:SF95,hmmpanther:PTHR10804,TIGRFAM_domain:TIGR00501,Gene3D:3.90.230.10,Pfam_domain:PF00557,Superfamily_domains:SSF55920,Prints_domain:PR00599	.	.	ENSP00000325312	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000323666	Transcript	.	.	ENSG00000111142	16672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP2_HUMAN	METAP2	HGNC	.	.	UPI000004493E	SNV	METAP2,synonymous_variant,p.%3D,ENST00000261220,;METAP2,synonymous_variant,p.%3D,ENST00000323666,;METAP2,synonymous_variant,p.%3D,ENST00000551840,;METAP2,synonymous_variant,p.%3D,ENST00000550777,;METAP2,synonymous_variant,p.%3D,ENST00000546753,;USP44,downstream_gene_variant,,ENST00000258499,;METAP2,intron_variant,,ENST00000535095,;	1201	65	51	SUCCESS
C12orf55	0	.	GRCh37	12	97051811	97051811	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs967703619	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	72	0	ENST00000524981.4:c.5252T>C	p.Leu1751Pro	p.L1751P	ENST00000524981		1751	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	5252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTGGAAG	NONE	.	.	.	.	.	ENSP00000431759	.	37/68	.	.	.	.	.	.	.	.	.	37/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	deleterious(0)	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,missense_variant,p.Leu1751Pro,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	5275	72	60	SUCCESS
C12orf55	0	.	GRCh37	12	97078810	97078810	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	51	117	0	ENST00000524981.4:c.5808T>A	p.Ala1936=	p.A1936=	ENST00000524981		1936	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	.	5808	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTGCTTT	NONE	.	.	Gene3D:1.25.40.10	.	.	ENSP00000431759	.	42/68	.	.	.	.	.	.	.	.	.	42/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,synonymous_variant,p.%3D,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	5831	117	109	SUCCESS
C12orf55	0	.	GRCh37	12	97114308	97114308	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	90	0	ENST00000524981.4:c.6930T>G	p.Ala2310=	p.A2310=	ENST00000524981		2310	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	.	6930	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTGCAGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000431759	.	50/68	.	.	.	.	.	.	.	.	.	50/68	PASS	ENST00000524981	Transcript	.	.	ENSG00000188596	26456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C12orf55	HGNC	R4GNI2_HUMAN,E9PJL5_HUMAN	.	UPI0001F77A4D	SNV	C12orf55,synonymous_variant,p.%3D,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	6953	90	72	SUCCESS
ITGBL1	9358	.	GRCh37	13	102105095	102105095	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	23	0	ENST00000376180.3:c.-90T>A		p.*30*	ENST00000376180	NM_004791.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCTGCTGG	NONE	.	.	.	.	.	ENSP00000365351	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000376180	Transcript	.	.	ENSG00000198542	6164	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITGBL_HUMAN	ITGBL1	HGNC	B3KTP1_HUMAN	.	UPI0000073C95	SNV	ITGBL1,5_prime_UTR_variant,,ENST00000376180,;ITGBL1,5_prime_UTR_variant,,ENST00000545560,;	130	23	33	SUCCESS
ITGBL1	9358	.	GRCh37	13	102250520	102250520	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	48	60	0	ENST00000376180.3:c.886T>G	p.Cys296Gly	p.C296G	ENST00000376180	NM_004791.2	296	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS9499.1	886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATTGCGGA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF3,PROSITE_patterns:PS00243,Gene3D:2.10.25.10,Pfam_domain:PF07974,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000365351	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000376180	Transcript	.	.	ENSG00000198542	6164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	ITGBL_HUMAN	ITGBL1	HGNC	B3KTP1_HUMAN	.	UPI0000073C95	SNV	ITGBL1,missense_variant,p.Cys203Gly,ENST00000376162,;ITGBL1,missense_variant,p.Cys10Gly,ENST00000490242,;ITGBL1,missense_variant,p.Cys296Gly,ENST00000376180,;ITGBL1,missense_variant,p.Cys155Gly,ENST00000545560,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000474233,;	1105	60	54	SUCCESS
METTL21C	196541	.	GRCh37	13	103343193	103343193	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	103	96	0	ENST00000267273.6:c.252A>G	p.Ile84Met	p.I84M	ENST00000267273	NM_001010977.2	84	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS32003.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTATGGA	NONE	.	.	hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614,Gene3D:3.40.50.150,Pfam_domain:PF10294	.	.	ENSP00000267273	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000267273	Transcript	.	.	ENSG00000139780	33717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.17)	.	MT21C_HUMAN	METTL21C	HGNC	.	.	UPI000016196F	SNV	METTL21C,missense_variant,p.Ile84Met,ENST00000267273,;	258	96	112	SUCCESS
CCDC168	643677	.	GRCh37	13	103383046	103383046	+	synonymous_variant	Silent	SNP	A	A	G	rs754457790	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	52	73	0	ENST00000322527.2:c.6114T>C	p.Ile2038=	p.I2038=	ENST00000322527	NM_001146197.1	2038	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	.	6114	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCAATGGA	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	rs754457790	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,synonymous_variant,p.%3D,ENST00000322527,;	6114	73	55	SUCCESS
GRK1	6011	.	GRCh37	13	114324036	114324036	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	52	0	ENST00000335678.6:c.734T>A	p.Val245Glu	p.V245E	ENST00000335678	NM_002929.2	245	gTa/gAa	0	.	.	.	.	.	A	V/E	protein_coding	YES	.	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGTACACA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF11,hmmpanther:PTHR24355,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00717	.	.	ENSP00000334876	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000335678	Transcript	.	.	ENSG00000185974	10013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RK_HUMAN	GRK1	HGNC	Q71VB6_HUMAN	.	UPI0000133B08	SNV	GRK1,missense_variant,p.Val245Glu,ENST00000335678,;	966	52	50	SUCCESS
MPHOSPH8	54737	.	GRCh37	13	20220900	20220900	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	55	165	0	ENST00000361479.5:c.687A>T	p.Lys229Asn	p.K229N	ENST00000361479	NM_017520.3	229	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS9287.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAAGTTAA	NONE	.	.	hmmpanther:PTHR24188:SF6,hmmpanther:PTHR24188,Low_complexity_(Seg):seg	.	.	ENSP00000355388	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000361479	Transcript	.	.	ENSG00000196199	29810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	deleterious_low_confidence(0.03)	.	MPP8_HUMAN	MPHOSPH8	HGNC	.	.	UPI0000051C18	SNV	MPHOSPH8,missense_variant,p.Lys229Asn,ENST00000361479,;MPHOSPH8,missense_variant,p.Lys229Asn,ENST00000414242,;	755	165	147	SUCCESS
MICU2	221154	.	GRCh37	13	22113457	22113457	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs371935367	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	74	185	0	ENST00000382374.4:c.450A>T	p.Arg150Ser	p.R150S	ENST00000382374	NM_152726.2	150	agA/agT	0	C:0	.	.	.	.	A	R/S	protein_coding	YES	CCDS9297.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCTCTGAA	NONE	byCluster	.	hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF3,Superfamily_domains:SSF47473	.	C:0.0001	ENSP00000371811	.	4/12	.	.	.	.	.	.	.	.	rs371935367	4/12	PASS	ENST00000382374	Transcript	.	.	ENSG00000165487	31830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MICU2_HUMAN	MICU2	HGNC	.	.	UPI0000035DB8	SNV	MICU2,missense_variant,p.Arg150Ser,ENST00000468222,;MICU2,missense_variant,p.Arg150Ser,ENST00000382374,;MICU2,non_coding_transcript_exon_variant,,ENST00000476895,;MICU2,non_coding_transcript_exon_variant,,ENST00000469058,;	516	185	163	SUCCESS
SGCG	6445	.	GRCh37	13	23898515	23898515	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	44	0	ENST00000218867.3:c.711T>A	p.Leu237=	p.L237=	ENST00000218867	NM_000231.2	237	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9299.1	711	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTTGATGC	NONE	.	.	hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF4,Pfam_domain:PF04790	.	.	ENSP00000218867	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000218867	Transcript	.	.	ENSG00000102683	10809	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SGCG_HUMAN	SGCG	HGNC	.	.	UPI000013C76D	SNV	SGCG,synonymous_variant,p.%3D,ENST00000537476,;SGCG,synonymous_variant,p.%3D,ENST00000218867,;SGCG,synonymous_variant,p.%3D,ENST00000545013,;SACS,downstream_gene_variant,,ENST00000382292,;SACS,downstream_gene_variant,,ENST00000402364,;SACS,downstream_gene_variant,,ENST00000455470,;SACS,downstream_gene_variant,,ENST00000382298,;SACS,downstream_gene_variant,,ENST00000423156,;	835	44	35	SUCCESS
TPTE2P6	374491	.	GRCh37	13	25168407	25168407	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	19	0	ENST00000440905.1:n.893-2A>T		p.X298_splice	ENST00000440905		298		0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	TTCACAGATAC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453498	Transcript	.	.	ENSG00000243008	.	.	.	HIGH	9/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-556N21.1	Clone_based_vega_gene	.	.	.	SNV	RP11-556N21.1,splice_acceptor_variant,,ENST00000453498,;TPTE2P6,splice_acceptor_variant,,ENST00000440905,;TPTE2P6,splice_acceptor_variant,,ENST00000450973,;TPTE2P6,splice_acceptor_variant,,ENST00000445572,;	.	19	13	SUCCESS
ATP8A2	51761	.	GRCh37	13	26349095	26349095	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	47	0	ENST00000381655.2:c.2677G>T	p.Glu893Ter	p.E893*	ENST00000381655	NM_016529.4	893	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS41873.1	2677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTGAGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000371070	.	27/37	.	.	.	.	.	.	.	.	.	27/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,stop_gained,p.Glu853Ter,ENST00000255283,;ATP8A2,stop_gained,p.Glu893Ter,ENST00000381655,;ATP8A2,splice_region_variant,,ENST00000491840,;ATP8A2,splice_region_variant,,ENST00000281620,;	2819	47	35	SUCCESS
CDX2	1045	.	GRCh37	13	28542995	28542995	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	10	0	ENST00000381020.7:c.149C>A	p.Ala50Glu	p.A50E	ENST00000381020	NM_001265.4	50	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS9328.1	149	RADIA|MUTECT|MUSE	.	CCGCTGCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24332:SF12,hmmpanther:PTHR24332,Pfam_domain:PF04731	.	.	ENSP00000370408	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381020	Transcript	.	.	ENSG00000165556	1806	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.603)	.	tolerated(0.34)	.	CDX2_HUMAN	CDX2	HGNC	.	.	UPI000013E4C8	SNV	CDX2,missense_variant,p.Ala50Glu,ENST00000381020,;CDX2,upstream_gene_variant,,ENST00000548877,;	2282	10	11	SUCCESS
FLT3	2322	.	GRCh37	13	28601380	28601380	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	27	63	0	ENST00000241453.7:c.2054-2A>G		p.X685_splice	ENST00000241453	NM_004119.2	685		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31953.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTGAAAT	NONE	.	.	.	.	.	ENSP00000241453	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000241453	Transcript	.	.	ENSG00000122025	3765	.	.	HIGH	16/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLT3_HUMAN	FLT3	HGNC	.	.	UPI00001FC90B	SNV	FLT3,splice_acceptor_variant,,ENST00000241453,;FLT3,splice_acceptor_variant,,ENST00000537084,;FLT3,splice_acceptor_variant,,ENST00000380982,;FLT3,splice_acceptor_variant,,ENST00000380987,;	.	63	49	SUCCESS
B3GALTL	0	.	GRCh37	13	31789221	31789221	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs112402968	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	45	0	ENST00000343307.4:c.104A>G	p.Glu35Gly	p.E35G	ENST00000343307	NM_194318.3	35	gAg/gGg	0	.	T:0	.	T:0.0014	.	G	E/G	protein_coding	YES	CCDS9341.1	104	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGAGGTCA	NONE	by1000G	.	.	T:0	.	ENSP00000343002	T:0	2/15	.	.	.	.	.	.	.	.	rs112402968	2/15	PASS	ENST00000343307	Transcript	.	T:0.0002	ENSG00000187676	20207	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	T:0	tolerated_low_confidence(0.18)	.	B3GLT_HUMAN	B3GALTL	HGNC	.	.	UPI000036695C	SNV	B3GALTL,missense_variant,p.Glu35Gly,ENST00000343307,;	253	45	25	SUCCESS
FRY	10129	.	GRCh37	13	32812069	32812069	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	83	0	ENST00000380250.3:c.6364A>T	p.Ser2122Cys	p.S2122C	ENST00000380250	NM_023037.2	2122	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS41875.1	6364	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAGTCTG	NONE	.	.	Pfam_domain:PF14225,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29,Low_complexity_(Seg):seg	.	.	ENSP00000369600	.	44/61	.	.	.	.	.	.	.	.	.	44/61	PASS	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.21)	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,missense_variant,p.Ser2122Cys,ENST00000380250,;	6860	83	53	SUCCESS
FRY	10129	.	GRCh37	13	32841436	32841436	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	49	0	ENST00000542859.1:c.186G>C	p.Met62Ile	p.M62I	ENST00000542859		62	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS41875.1	8076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATGTGTGA	NONE	.	.	hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	.	.	ENSP00000369600	.	55/61	.	.	.	.	.	.	.	.	.	55/61	PASS	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.31)	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,missense_variant,p.Met62Ile,ENST00000542859,;FRY,missense_variant,p.Met2692Ile,ENST00000380250,;FRY,missense_variant,p.Cys104Ser,ENST00000477712,;FRY,intron_variant,,ENST00000602645,;	8572	49	33	SUCCESS
NBEA	26960	.	GRCh37	13	35731383	35731383	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	52	0	ENST00000400445.3:c.2820T>C	p.Asp940=	p.D940=	ENST00000400445	NM_015678.4	940	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS45026.1	2820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGATACCCT	NONE	.	.	hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	.	.	ENSP00000383295	.	21/58	.	.	.	.	.	.	.	.	.	21/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,synonymous_variant,p.%3D,ENST00000400445,;NBEA,synonymous_variant,p.%3D,ENST00000540320,;NBEA,synonymous_variant,p.%3D,ENST00000310336,;NBEA,synonymous_variant,p.%3D,ENST00000379939,;	3354	52	56	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679577	37679577	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	39	55	0	ENST00000379800.3:c.-184T>A		p.*62*	ENST00000379800	NM_145203.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9363.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCAGGCCA	NONE	.	.	.	.	.	ENSP00000369126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379800	Transcript	.	.	ENSG00000180138	20289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,5_prime_UTR_variant,,ENST00000379800,;	227	55	41	SUCCESS
FREM2	341640	.	GRCh37	13	39262741	39262741	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	72	0	ENST00000280481.7:c.1260A>T	p.Ala420=	p.A420=	ENST00000280481	NM_207361.4	420	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31960.1	1260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCAGCTTC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,synonymous_variant,p.%3D,ENST00000280481,;	1476	72	55	SUCCESS
FREM2	341640	.	GRCh37	13	39357294	39357294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	96	0	ENST00000280481.7:c.5729T>A	p.Val1910Glu	p.V1910E	ENST00000280481	NM_207361.4	1910	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS31960.1	5729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGTGAGCC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000280481	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.31)	.	deleterious(0.01)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Val1910Glu,ENST00000280481,;RNU6-56P,downstream_gene_variant,,ENST00000516986,;	5945	96	96	SUCCESS
LRCH1	23143	.	GRCh37	13	47302989	47302989	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	74	0	ENST00000389798.3:c.1772A>G	p.Glu591Gly	p.E591G	ENST00000389798	NM_015116.2	591	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS53865.1	1877	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGAGATGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50021,hmmpanther:PTHR23155:SF434,hmmpanther:PTHR23155,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000374447	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000389797	Transcript	.	.	ENSG00000136141	20309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LRCH1_HUMAN	LRCH1	HGNC	C9JWE0_HUMAN,C9J5B8_HUMAN	.	UPI00015DFE06	SNV	LRCH1,missense_variant,p.Glu626Gly,ENST00000389797,;LRCH1,missense_variant,p.Glu591Gly,ENST00000311191,;LRCH1,missense_variant,p.Glu591Gly,ENST00000389798,;	2014	74	55	SUCCESS
RB1	5925	.	GRCh37	13	48953748	48953748	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs759079385	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	189	251	0	ENST00000267163.4:c.1351del	p.Arg451AlafsTer6	p.R451Afs*6	ENST00000267163	NM_000321.2	451	Cgc/gc	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS31973.1	1351	VARSCANI*|PINDEL	.	GGAGTTCGCTTG	BUFFER|p.R451C|c.1351C>T|3	.	.	hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	.	.	ENSP00000267163	.	14/27	.	.	.	.	.	.	.	.	rs759079385,COSM176711,COSM1147221	14/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	deletion	RB1,frameshift_variant,p.Arg451AlafsTer6,ENST00000267163,;	1489	251	379	SUCCESS
RB1	5925	.	GRCh37	13	49030437	49030437	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	107	261	0	ENST00000267163.4:c.1912A>T	p.Thr638Ser	p.T638S	ENST00000267163	NM_000321.2	638	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS31973.1	1912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGACCCAG	BUFFER|p.S634*|c.1901C>G|4,BUFFER|p.S634*|c.1901C>G|3	.	.	hmmpanther:PTHR13742,Gene3D:1.10.472.10	.	.	ENSP00000267163	.	19/27	.	.	.	.	.	.	.	.	.	19/27	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.82)	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,missense_variant,p.Thr638Ser,ENST00000267163,;RB1,non_coding_transcript_exon_variant,,ENST00000480491,;	2050	261	254	SUCCESS
FNDC3A	22862	.	GRCh37	13	49781371	49781371	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	118	149	0	ENST00000492622.2:c.3437A>T	p.Gln1146Leu	p.Q1146L	ENST00000492622	NM_001079673.1	1146	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS41886.1	3437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCAGAGGA	NONE	.	.	Superfamily_domains:SSF49265,hmmpanther:PTHR19900:SF38,hmmpanther:PTHR19900,PROSITE_profiles:PS50853	.	.	ENSP00000417257	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000492622	Transcript	.	.	ENSG00000102531	20296	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.11)	.	FND3A_HUMAN	FNDC3A	HGNC	.	.	UPI0000229601	SNV	FNDC3A,missense_variant,p.Gln1146Leu,ENST00000541916,;FNDC3A,missense_variant,p.Gln1146Leu,ENST00000492622,;FNDC3A,missense_variant,p.Gln1090Leu,ENST00000398316,;FNDC3A,3_prime_UTR_variant,,ENST00000484074,;FNDC3A,downstream_gene_variant,,ENST00000497644,;OGFOD1P1,downstream_gene_variant,,ENST00000447552,;	3742	149	128	SUCCESS
INTS6	26512	.	GRCh37	13	52025248	52025248	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	39	105	0	ENST00000311234.4:c.252A>T	p.Gly84=	p.G84=	ENST00000311234	NM_012141.2	84	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9428.1	252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAGTCCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50234,hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957,Pfam_domain:PF13519,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	.	.	ENSP00000310260	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000311234	Transcript	.	.	ENSG00000102786	14879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INT6_HUMAN	INTS6	HGNC	G5E9X1_HUMAN,C9K0V7_HUMAN,C9JVX2_HUMAN,C9J885_HUMAN,C9J0C6_HUMAN,B3KQH5_HUMAN	.	UPI0000030C84	SNV	INTS6,synonymous_variant,p.%3D,ENST00000442263,;INTS6,synonymous_variant,p.%3D,ENST00000398119,;INTS6,synonymous_variant,p.%3D,ENST00000311234,;INTS6,synonymous_variant,p.%3D,ENST00000485178,;INTS6,synonymous_variant,p.%3D,ENST00000463928,;INTS6,synonymous_variant,p.%3D,ENST00000483288,;INTS6,synonymous_variant,p.%3D,ENST00000488009,;INTS6,synonymous_variant,p.%3D,ENST00000491189,;INTS6,synonymous_variant,p.%3D,ENST00000420668,;INTS6,5_prime_UTR_variant,,ENST00000425000,;INTS6-AS1,upstream_gene_variant,,ENST00000597745,;INTS6-AS1,upstream_gene_variant,,ENST00000601572,;INTS6-AS1,upstream_gene_variant,,ENST00000596050,;INTS6-AS1,upstream_gene_variant,,ENST00000602089,;INTS6-AS1,upstream_gene_variant,,ENST00000594604,;INTS6-AS1,upstream_gene_variant,,ENST00000593709,;INTS6-AS1,upstream_gene_variant,,ENST00000598905,;INTS6-AS1,upstream_gene_variant,,ENST00000598864,;INTS6-AS1,upstream_gene_variant,,ENST00000594358,;INTS6-AS1,upstream_gene_variant,,ENST00000593672,;INTS6-AS1,upstream_gene_variant,,ENST00000595424,;INTS6-AS1,upstream_gene_variant,,ENST00000434512,;INTS6-AS1,upstream_gene_variant,,ENST00000600477,;INTS6-AS1,upstream_gene_variant,,ENST00000594488,;INTS6-AS1,upstream_gene_variant,,ENST00000594959,;INTS6-AS1,upstream_gene_variant,,ENST00000596180,;INTS6-AS1,upstream_gene_variant,,ENST00000595997,;INTS6-AS1,upstream_gene_variant,,ENST00000593429,;INTS6-AS1,upstream_gene_variant,,ENST00000601318,;INTS6-AS1,upstream_gene_variant,,ENST00000595435,;INTS6-AS1,upstream_gene_variant,,ENST00000593928,;INTS6-AS1,upstream_gene_variant,,ENST00000601034,;INTS6-AS1,upstream_gene_variant,,ENST00000599315,;INTS6-AS1,upstream_gene_variant,,ENST00000596303,;INTS6,non_coding_transcript_exon_variant,,ENST00000491723,;INTS6,non_coding_transcript_exon_variant,,ENST00000461515,;INTS6,non_coding_transcript_exon_variant,,ENST00000486195,;RPS4XP16,upstream_gene_variant,,ENST00000595905,;RPS4XP16,upstream_gene_variant,,ENST00000596904,;INTS6,synonymous_variant,p.%3D,ENST00000469430,;INTS6,synonymous_variant,p.%3D,ENST00000491997,;INTS6,non_coding_transcript_exon_variant,,ENST00000478566,;	725	106	89	SUCCESS
DHRS12	79758	.	GRCh37	13	52343197	52343197	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	54	0	ENST00000444610.2:c.844+95T>A		p.*282*	ENST00000444610	NM_001270424.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58292.1	.	RADIA|VARSCANS	.	GTCCCACCCCA	NONE	.	.	.	.	.	ENSP00000411565	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000444610	Transcript	.	.	ENSG00000102796	25832	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHR12_HUMAN	DHRS12	HGNC	.	.	UPI000004742D	SNV	DHRS12,3_prime_UTR_variant,,ENST00000218981,;DHRS12,intron_variant,,ENST00000444610,;DHRS12,downstream_gene_variant,,ENST00000280056,;DHRS12,downstream_gene_variant,,ENST00000472372,;DHRS12,downstream_gene_variant,,ENST00000461948,;DHRS12,downstream_gene_variant,,ENST00000490949,;DHRS12,downstream_gene_variant,,ENST00000489680,;DHRS12,intron_variant,,ENST00000469957,;	.	54	22	SUCCESS
NEK5	341676	.	GRCh37	13	52676261	52676261	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	100	222	0	ENST00000355568.4:c.777A>C	p.Leu259Phe	p.L259F	ENST00000355568	NM_199289.1	259	ttA/ttC	0	.	.	.	.	.	G	L/F	protein_coding	YES	CCDS31979.1	777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTAAAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF224,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000347767	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000355568	Transcript	.	.	ENSG00000197168	7748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NEK5_HUMAN	NEK5	HGNC	.	.	UPI0000227E77	SNV	NEK5,missense_variant,p.Leu259Phe,ENST00000355568,;NEK5,missense_variant,p.Leu259Phe,ENST00000465811,;	917	222	225	SUCCESS
SUGT1	10910	.	GRCh37	13	53227239	53227239	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	79	0	ENST00000343788.6:c.96+1G>A		p.X32_splice	ENST00000343788	NM_001130912.1	32		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45050.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGGTGAGA	NONE	.	.	.	.	.	ENSP00000367208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343788	Transcript	.	.	ENSG00000165416	16987	.	.	HIGH	2/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUGT1_HUMAN	SUGT1	HGNC	.	.	UPI00001CDFF4	SNV	SUGT1,splice_donor_variant,,ENST00000343788,;SUGT1,splice_donor_variant,,ENST00000310528,;SUGT1,splice_donor_variant,,ENST00000535397,;SUGT1,splice_donor_variant,,ENST00000483074,;	.	79	62	SUCCESS
DIAPH3	81624	.	GRCh37	13	60490362	60490362	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	77	0	ENST00000400324.4:c.2192G>C	p.Arg731Pro	p.R731P	ENST00000400324	NM_001042517.1	731	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS41898.1	2192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCGAAAA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000383178	.	19/28	.	.	.	.	.	.	.	.	.	19/28	PASS	ENST00000400324	Transcript	.	.	ENSG00000139734	15480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DIAP3_HUMAN	DIAPH3	HGNC	.	.	UPI0000DAC774	SNV	DIAPH3,missense_variant,p.Arg731Pro,ENST00000400324,;DIAPH3,missense_variant,p.Arg731Pro,ENST00000267215,;DIAPH3,missense_variant,p.Arg661Pro,ENST00000400319,;DIAPH3,missense_variant,p.Arg731Pro,ENST00000400330,;DIAPH3,missense_variant,p.Arg720Pro,ENST00000377908,;DIAPH3,missense_variant,p.Arg685Pro,ENST00000400320,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;	2413	77	61	SUCCESS
KLHL1	57626	.	GRCh37	13	70535471	70535471	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	87	0	ENST00000377844.4:c.786T>C	p.Ala262=	p.A262=	ENST00000377844	NM_020866.2	262	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS9445.1	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGAGCATT	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000367075	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,synonymous_variant,p.%3D,ENST00000545028,;KLHL1,synonymous_variant,p.%3D,ENST00000377844,;	1546	87	70	SUCCESS
MYCBP2	23077	.	GRCh37	13	77844588	77844588	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	59	145	0	ENST00000357337.6:c.917G>A	p.Gly306Asp	p.G306D	ENST00000357337		306	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	.	917	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGCCATTA	NONE	.	.	hmmpanther:PTHR12846:SF14,hmmpanther:PTHR12846	.	.	ENSP00000444596	.	6/83	.	.	.	.	.	.	.	.	.	6/83	PASS	ENST00000544440	Transcript	.	.	ENSG00000005810	23386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	.	.	MYCB2_HUMAN	MYCBP2	HGNC	.	.	UPI0000212757	SNV	MYCBP2,missense_variant,p.Gly306Asp,ENST00000357337,;MYCBP2,missense_variant,p.Gly306Asp,ENST00000544440,;MYCBP2,missense_variant,p.Gly344Asp,ENST00000407578,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000474882,;	935	145	139	SUCCESS
SLITRK5	26050	.	GRCh37	13	88330290	88330290	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	51	123	0	ENST00000325089.6:c.2647A>C	p.Ser883Arg	p.S883R	ENST00000325089	NM_015567.1	883	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS9465.1	2647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCAGCCCC	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.232)	.	tolerated(0.62)	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,missense_variant,p.Ser883Arg,ENST00000325089,;SLITRK5,missense_variant,p.Ser642Arg,ENST00000400028,;	2866	123	120	SUCCESS
OXGR1	27199	.	GRCh37	13	97640046	97640046	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	132	0	ENST00000298440.1:c.-33T>A		p.*11*	ENST00000298440	NM_080818.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGAGAGTT	NONE	.	.	.	.	.	ENSP00000298440	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298440	Transcript	.	.	ENSG00000165621	4531	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXGR1_HUMAN	OXGR1	HGNC	F5H6U5_HUMAN,F5H3P1_HUMAN,B2R986_HUMAN	.	UPI000003BCD2	SNV	OXGR1,5_prime_UTR_variant,,ENST00000541038,;OXGR1,5_prime_UTR_variant,,ENST00000298440,;OXGR1,intron_variant,,ENST00000543457,;OXGR1,intron_variant,,ENST00000541518,;LINC00359,upstream_gene_variant,,ENST00000606237,;	212	132	112	SUCCESS
AHNAK2	113146	.	GRCh37	14	105413692	105413692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	198	0	ENST00000333244.5:c.8096A>T	p.Gln2699Leu	p.Q2699L	ENST00000333244	NM_138420.2	2699	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS45177.1	8096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGAATG	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Gln2699Leu,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	8216	198	114	SUCCESS
AHNAK2	113146	.	GRCh37	14	105420987	105420987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	46	0	ENST00000333244.5:c.801A>G	p.Ile267Met	p.I267M	ENST00000333244	NM_138420.2	267	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS45177.1	801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTATGGA	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Ile267Met,ENST00000333244,;AHNAK2,upstream_gene_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555544,;	921	46	22	SUCCESS
IGHG4	3503	.	GRCh37	14	106092184	106092184	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	146	0	ENST00000390543.2:c.220A>T	p.Ser74Cys	p.S74C	ENST00000390543		74	Agc/Tgc	0	.	.	.	.	.	A	S/C	IG_C_gene	YES	.	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGGAGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835	.	.	ENSP00000374985	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000390543	Transcript	.	.	ENSG00000211892	5528	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.699)	.	deleterious(0.03)	.	IGHG4_HUMAN	IGHG4	HGNC	.	.	UPI0000047190	SNV	IGHG4,missense_variant,p.Ser74Cys,ENST00000390543,;	220	146	77	SUCCESS
IGHG2	3501	.	GRCh37	14	106109761	106109761	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	214	0	ENST00000390545.2:c.760A>T	p.Ser254Cys	p.S254C	ENST00000390545		254	Agc/Tgc	0	.	.	.	.	.	A	S/C	IG_C_gene	YES	.	760	MUTECT|MUSE|VARSCANS	.	GTCGCTGGGGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR23266:SF72,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374987	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000390545	Transcript	1	.	ENSG00000211893	5526	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.931)	.	deleterious(0.04)	.	IGHG2_HUMAN	IGHG2	HGNC	.	.	UPI0000140AFA	SNV	IGHG2,missense_variant,p.Ser254Cys,ENST00000390545,;RP11-731F5.2,downstream_gene_variant,,ENST00000497397,;RP11-731F5.2,downstream_gene_variant,,ENST00000460164,;	760	214	81	SUCCESS
IGHA1	3493	.	GRCh37	14	106174213	106174213	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	46	158	0	ENST00000390547.2:c.576T>A	p.Cys192Ter	p.C192*	ENST00000390547		192	tgT/tgA	0	.	.	.	.	.	T	C/*	IG_C_gene	YES	.	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCACAGCC	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374989	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000390547	Transcript	.	.	ENSG00000211895	5478	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGHA1_HUMAN	IGHA1	HGNC	Q9UP60_HUMAN,Q96K68_HUMAN,Q8NCL6_HUMAN,Q6MZW0_HUMAN	.	UPI000004718D	SNV	IGHA1,stop_gained,p.Cys192Ter,ENST00000390547,;AL928768.3,upstream_gene_variant,,ENST00000497872,;AL901608.1,downstream_gene_variant,,ENST00000581070,;	576	158	94	SUCCESS
IGHA1	3493	.	GRCh37	14	106174396	106174396	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	107	0	ENST00000390547.2:c.393A>T	p.Arg131=	p.R131=	ENST00000390547		131	cgA/cgT	0	.	.	.	.	.	A	R	IG_C_gene	YES	.	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGGTCGGTG	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374989	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000390547	Transcript	.	.	ENSG00000211895	5478	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGHA1_HUMAN	IGHA1	HGNC	Q9UP60_HUMAN,Q96K68_HUMAN,Q8NCL6_HUMAN,Q6MZW0_HUMAN	.	UPI000004718D	SNV	IGHA1,synonymous_variant,p.%3D,ENST00000390547,;AL928768.3,upstream_gene_variant,,ENST00000497872,;AL901608.1,downstream_gene_variant,,ENST00000581070,;	393	107	55	SUCCESS
IGHV4-59	28392	.	GRCh37	14	107083381	107083381	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782652010	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	79	495	1	ENST00000455737.1:c.223A>G	p.Ser75Gly	p.S75G	ENST00000455737		75	Agc/Ggc	0	.	.	.	.	.	C	S/G	IG_V_gene	YES	.	223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTCCCAC	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000410711	.	2/3	.	.	.	.	.	.	.	.	rs782652010	2/3	PASS	ENST00000455737	Transcript	.	.	ENSG00000224373	5654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.382)	.	tolerated_low_confidence(0.15)	.	.	IGHV4-59	HGNC	Q86SX2_HUMAN	.	UPI0000161567	SNV	IGHV4-59,missense_variant,p.Ser75Gly,ENST00000390629,;IGHV4-59,missense_variant,p.Ser75Gly,ENST00000455737,;IGHV1-58,upstream_gene_variant,,ENST00000390628,;IGHV3-60,downstream_gene_variant,,ENST00000521678,;	263	496	228	SUCCESS
OR4K2	390431	.	GRCh37	14	20344887	20344887	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs776860961	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	20	104	0	ENST00000298642.2:c.461T>C	p.Met154Thr	p.M154T	ENST00000298642	NM_001005501.1	154	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS32023.1	461	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATGCATT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000298642	.	1/1	.	.	.	.	.	.	.	.	rs776860961	1/1	PASS	ENST00000298642	Transcript	.	.	ENSG00000165762	14728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.07)	.	OR4K2_HUMAN	OR4K2	HGNC	.	.	UPI0000041B4D	SNV	OR4K2,missense_variant,p.Met154Thr,ENST00000298642,;	497	104	106	SUCCESS
OR4K15	81127	.	GRCh37	14	20444394	20444394	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	48	64	0	ENST00000305051.5:c.717T>C	p.Val239=	p.V239=	ENST00000305051	NM_001005486.1	239	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS32026.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTTGTCTC	BUFFER|p.L236I|c.706C>A|4	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF287,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305051	Transcript	.	.	ENSG00000169488	15353	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4KF_HUMAN	OR4K15	HGNC	.	.	UPI000015F249	SNV	OR4K15,synonymous_variant,p.%3D,ENST00000305051,;	792	64	81	SUCCESS
OR11G2	390439	.	GRCh37	14	20666491	20666491	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	24	93	0	ENST00000357366.3:c.997A>T	p.Lys333Ter	p.K333*	ENST00000357366	NM_001005503.1	333	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS32032.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACAAAGAT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183	.	.	ENSP00000349930	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357366	Transcript	.	.	ENSG00000196832	15346	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O11G2_HUMAN	OR11G2	HGNC	.	.	UPI000015F241	SNV	OR11G2,stop_gained,p.Lys333Ter,ENST00000357366,;	997	93	74	SUCCESS
TEP1	7011	.	GRCh37	14	20851687	20851687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	44	95	0	ENST00000262715.5:c.3827G>T	p.Gly1276Val	p.G1276V	ENST00000262715	NM_007110.4	1276	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9548.1	3827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCCATTC	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF05729,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50837	.	.	ENSP00000262715	.	26/55	.	.	.	.	.	.	.	.	.	26/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,missense_variant,p.Gly1168Val,ENST00000556935,;TEP1,missense_variant,p.Gly1276Val,ENST00000262715,;TEP1,upstream_gene_variant,,ENST00000545983,;TEP1,missense_variant,p.Gly1276Val,ENST00000555727,;TEP1,missense_variant,p.Gly626Val,ENST00000555008,;TEP1,upstream_gene_variant,,ENST00000557314,;	3868	95	85	SUCCESS
TEP1	7011	.	GRCh37	14	20871535	20871535	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	46	111	0	ENST00000262715.5:c.1266+1G>T		p.X422_splice	ENST00000262715	NM_007110.4	422		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9548.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCTTTC	NONE	.	.	.	.	.	ENSP00000262715	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	HIGH	7/54	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,splice_donor_variant,,ENST00000556935,;TEP1,splice_donor_variant,,ENST00000262715,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,splice_donor_variant,,ENST00000557627,;TEP1,splice_donor_variant,,ENST00000555727,;	.	111	97	SUCCESS
TRAV26-1	28657	.	GRCh37	14	22592168	22592168	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	9	0	ENST00000390455.3:c.253A>T	p.Arg85Ter	p.R85*	ENST00000390455		85	Aga/Tga	0	.	.	.	.	.	T	R/*	TR_V_gene	YES	.	253	RADIA|MUTECT|MUSE	.	AAGACAGAAAG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19433:SF59,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000452431	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000390455	Transcript	.	.	ENSG00000211807	12123	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TRAV26-1	HGNC	.	.	UPI000011D129	SNV	TRAV26-1,stop_gained,p.Arg85Ter,ENST00000390455,;	462	9	10	SUCCESS
OXA1L	5018	.	GRCh37	14	23237247	23237247	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	77	0	ENST00000285848.5:c.486A>T	p.Val162=	p.V162=	ENST00000285848	NM_005015.3	162	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9573.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTAGTCCA	NONE	.	.	hmmpanther:PTHR12428:SF16,hmmpanther:PTHR12428	.	.	ENSP00000285848	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000285848	Transcript	.	.	ENSG00000155463	8526	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OXA1L	HGNC	S4R3Q9_HUMAN,J3KNA0_HUMAN,C9JC63_HUMAN	.	UPI000013DE11	SNV	OXA1L,synonymous_variant,p.%3D,ENST00000604262,;OXA1L,synonymous_variant,p.%3D,ENST00000412791,;OXA1L,synonymous_variant,p.%3D,ENST00000285848,;OXA1L,synonymous_variant,p.%3D,ENST00000358043,;OXA1L,5_prime_UTR_variant,,ENST00000431881,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554857,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554730,;CTD-2555K7.2,upstream_gene_variant,,ENST00000553792,;OXA1L,stop_lost,p.Ter83LeuextTer22,ENST00000442110,;OXA1L,non_coding_transcript_exon_variant,,ENST00000556473,;OXA1L,non_coding_transcript_exon_variant,,ENST00000473744,;OXA1L,non_coding_transcript_exon_variant,,ENST00000495424,;OXA1L,non_coding_transcript_exon_variant,,ENST00000481218,;OXA1L,non_coding_transcript_exon_variant,,ENST00000483939,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554194,;OXA1L,downstream_gene_variant,,ENST00000557299,;	486	77	74	SUCCESS
MMP14	4323	.	GRCh37	14	23312529	23312529	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	49	0	ENST00000311852.6:c.752G>T	p.Ser251Ile	p.S251I	ENST00000311852	NM_004995.3	251	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS9577.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGTGACC	NONE	.	.	hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	.	.	ENSP00000308208	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000311852	Transcript	.	.	ENSG00000157227	7160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	deleterious(0)	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,missense_variant,p.Ser251Ile,ENST00000311852,;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	1013	49	40	SUCCESS
CEBPE	1053	.	GRCh37	14	23587945	23587945	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752134859	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	36	0	ENST00000206513.5:c.356C>A	p.Ala119Glu	p.A119E	ENST00000206513	NM_001805.3	119	gCg/gAg	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS9589.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCGCCACA	NONE	byFrequency	.	PIRSF_domain:PIRSF005879,hmmpanther:PTHR23334:SF17,hmmpanther:PTHR23334	.	.	ENSP00000206513	.	1/2	.	.	.	.	.	.	.	.	rs752134859	1/2	PASS	ENST00000206513	Transcript	.	.	ENSG00000092067	1836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	deleterious(0.04)	.	CEBPE_HUMAN	CEBPE	HGNC	.	.	UPI000013C660	SNV	CEBPE,missense_variant,p.Ala119Glu,ENST00000206513,;	881	36	41	SUCCESS
CMTM5	116173	.	GRCh37	14	23846398	23846398	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	9	14	0	ENST00000339180.4:c.-63A>G		p.*21*	ENST00000339180	NM_001288746.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9598.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CTGCCAGATTT	NONE	.	.	.	.	.	ENSP00000352270	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000359320	Transcript	.	.	ENSG00000166091	19176	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CKLF5_HUMAN	CMTM5	HGNC	.	.	UPI0000035DFC	SNV	CMTM5,5_prime_UTR_variant,,ENST00000555731,;CMTM5,5_prime_UTR_variant,,ENST00000359320,;CMTM5,5_prime_UTR_variant,,ENST00000397227,;CMTM5,5_prime_UTR_variant,,ENST00000342473,;CMTM5,5_prime_UTR_variant,,ENST00000339180,;MYH6,downstream_gene_variant,,ENST00000405093,;MYH6,downstream_gene_variant,,ENST00000356287,;CMTM5,upstream_gene_variant,,ENST00000382809,;IL25,downstream_gene_variant,,ENST00000397242,;IL25,downstream_gene_variant,,ENST00000329715,;CMTM5,non_coding_transcript_exon_variant,,ENST00000553750,;CMTM5,upstream_gene_variant,,ENST00000555487,;	382	14	14	SUCCESS
MYH6	4624	.	GRCh37	14	23858850	23858850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	52	127	0	ENST00000356287.3:c.3811T>A	p.Ser1271Thr	p.S1271T	ENST00000356287		1271	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS9600.1	3811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGAGCGTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF260,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000386041	.	27/39	.	.	.	.	.	.	.	.	.	27/39	PASS	ENST00000405093	Transcript	.	.	ENSG00000197616	7576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.69)	.	MYH6_HUMAN	MYH6	HGNC	Q9UQV1_HUMAN,A8CLL2_HUMAN	.	UPI0000160969	SNV	MYH6,missense_variant,p.Ser1271Thr,ENST00000405093,;MYH6,missense_variant,p.Ser1271Thr,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	3882	127	121	SUCCESS
MYH7	4625	.	GRCh37	14	23892879	23892879	+	synonymous_variant	Silent	SNP	C	C	A	rs368728770	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	95	0	ENST00000355349.3:c.2976G>T	p.Leu992=	p.L992=	ENST00000355349	NM_000257.2	992	ctG/ctT	0	T:0	T:0	.	T:0	.	A	L	protein_coding	YES	CCDS9601.1	2976	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCAGCTT	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Superfamily_domains:SSF90257	T:0	T:0.0001	ENSP00000347507	T:0.001	24/40	.	.	.	.	.	.	.	.	rs368728770	24/40	PASS	ENST00000355349	Transcript	.	T:0.0002	ENSG00000092054	7577	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,synonymous_variant,p.%3D,ENST00000355349,;	3139	95	78	SUCCESS
MYH7	4625	.	GRCh37	14	23900689	23900689	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs397516267	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	68	0	ENST00000355349.3:c.734G>T	p.Gly245Val	p.G245V	ENST00000355349	NM_000257.2	245	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9601.1	734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	ATTTCCCCTGG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193	.	.	ENSP00000347507	.	9/40	.	.	.	.	.	.	.	.	rs397516267,COSM3495249	9/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.925)	.	deleterious(0)	0,1	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Gly245Val,ENST00000355349,;	897	68	62	SUCCESS
DCAF11	80344	.	GRCh37	14	24586232	24586232	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	63	174	0	ENST00000446197.3:c.262G>T	p.Gly88Trp	p.G88W	ENST00000446197	NM_025230.4	88	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS9610.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGGGGAT	NONE	.	.	hmmpanther:PTHR19847,PIRSF_domain:PIRSF038135	.	.	ENSP00000415556	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000446197	Transcript	.	.	ENSG00000100897	20258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DCA11_HUMAN	DCAF11	HGNC	H0YNS2_HUMAN,H0YNK2_HUMAN,H0YMZ4_HUMAN,H0YM56_HUMAN,H0YLQ1_HUMAN,H0YL64_HUMAN,H0YKR8_HUMAN	.	UPI0000073AB2	SNV	DCAF11,missense_variant,p.Leu9Phe,ENST00000396936,;DCAF11,missense_variant,p.Gly62Trp,ENST00000559354,;DCAF11,missense_variant,p.Gly62Trp,ENST00000560713,;DCAF11,missense_variant,p.Gly88Trp,ENST00000559593,;DCAF11,missense_variant,p.Leu69Phe,ENST00000560901,;DCAF11,missense_variant,p.Gly62Trp,ENST00000561001,;DCAF11,missense_variant,p.Gly88Trp,ENST00000559115,;DCAF11,missense_variant,p.Leu69Phe,ENST00000560459,;DCAF11,missense_variant,p.Gly62Trp,ENST00000396941,;DCAF11,missense_variant,p.Gly62Trp,ENST00000561375,;DCAF11,missense_variant,p.Gly88Trp,ENST00000561041,;DCAF11,missense_variant,p.Gly62Trp,ENST00000558638,;DCAF11,missense_variant,p.Gly88Trp,ENST00000559017,;DCAF11,missense_variant,p.Gly88Trp,ENST00000446197,;DCAF11,missense_variant,p.Leu69Phe,ENST00000559288,;DCAF11,missense_variant,p.Leu69Phe,ENST00000559382,;DCAF11,missense_variant,p.Gly88Trp,ENST00000558408,;DCAF11,missense_variant,p.Gly88Trp,ENST00000557810,;DCAF11,downstream_gene_variant,,ENST00000558215,;NRL,upstream_gene_variant,,ENST00000561028,;DCAF11,upstream_gene_variant,,ENST00000559144,;DCAF11,downstream_gene_variant,,ENST00000559796,;NRL,upstream_gene_variant,,ENST00000558280,;RP11-468E2.6,upstream_gene_variant,,ENST00000558325,;DCAF11,downstream_gene_variant,,ENST00000559396,;DCAF11,non_coding_transcript_exon_variant,,ENST00000557809,;DCAF11,non_coding_transcript_exon_variant,,ENST00000561016,;DCAF11,non_coding_transcript_exon_variant,,ENST00000557952,;DCAF11,intron_variant,,ENST00000560171,;DCAF11,downstream_gene_variant,,ENST00000561056,;DCAF11,missense_variant,p.Leu69Phe,ENST00000558914,;DCAF11,3_prime_UTR_variant,,ENST00000326009,;DCAF11,3_prime_UTR_variant,,ENST00000560457,;DCAF11,3_prime_UTR_variant,,ENST00000557888,;DCAF11,3_prime_UTR_variant,,ENST00000557802,;DCAF11,intron_variant,,ENST00000558706,;DCAF11,intron_variant,,ENST00000559451,;DCAF11,intron_variant,,ENST00000560614,;DCAF11,upstream_gene_variant,,ENST00000558624,;DCAF11,upstream_gene_variant,,ENST00000560046,;DCAF11,upstream_gene_variant,,ENST00000559472,;	989	174	136	SUCCESS
ADCY4	196883	.	GRCh37	14	24792119	24792119	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	38	50	0	ENST00000310677.4:c.2333T>A	p.Leu778Ter	p.L778*	ENST00000310677	NM_001198568.1	778	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS9627.1	2333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCAAGGGG	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286	.	.	ENSP00000312126	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000310677	Transcript	.	.	ENSG00000129467	235	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY4_HUMAN	ADCY4	HGNC	Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN	.	UPI00000398CC	SNV	ADCY4,stop_gained,p.Leu778Ter,ENST00000554068,;ADCY4,stop_gained,p.Leu778Ter,ENST00000418030,;ADCY4,stop_gained,p.Leu778Ter,ENST00000310677,;ADCY4,downstream_gene_variant,,ENST00000396747,;ADCY4,downstream_gene_variant,,ENST00000556932,;LTB4R,downstream_gene_variant,,ENST00000396789,;ADCY4,3_prime_UTR_variant,,ENST00000557056,;ADCY4,3_prime_UTR_variant,,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554577,;ADCY4,non_coding_transcript_exon_variant,,ENST00000545213,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554936,;ADCY4,downstream_gene_variant,,ENST00000554959,;ADCY4,upstream_gene_variant,,ENST00000561200,;ADCY4,upstream_gene_variant,,ENST00000555684,;ADCY4,upstream_gene_variant,,ENST00000560635,;	2447	50	65	SUCCESS
NFATC4	4776	.	GRCh37	14	24841727	24841727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	43	0	ENST00000250373.4:c.1277G>T	p.Arg426Ile	p.R426I	ENST00000250373	NM_004554.4	426	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS45089.1	1466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTAGAGCCC	NONE	.	.	PROSITE_profiles:PS50254,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9,Gene3D:2.60.40.340,Pfam_domain:PF00554,Superfamily_domains:SSF49417	.	.	ENSP00000388910	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,missense_variant,p.Arg118Ile,ENST00000554779,;NFATC4,missense_variant,p.Arg439Ile,ENST00000555590,;NFATC4,missense_variant,p.Arg356Ile,ENST00000554661,;NFATC4,missense_variant,p.Arg414Ile,ENST00000555453,;NFATC4,missense_variant,p.Arg426Ile,ENST00000553708,;NFATC4,missense_variant,p.Arg489Ile,ENST00000413692,;NFATC4,missense_variant,p.Arg458Ile,ENST00000556279,;NFATC4,missense_variant,p.Arg356Ile,ENST00000553879,;NFATC4,missense_variant,p.Arg439Ile,ENST00000424781,;NFATC4,missense_variant,p.Arg426Ile,ENST00000554050,;NFATC4,missense_variant,p.Arg414Ile,ENST00000422617,;NFATC4,missense_variant,p.Arg426Ile,ENST00000250373,;NFATC4,missense_variant,p.Arg458Ile,ENST00000553469,;NFATC4,missense_variant,p.Arg414Ile,ENST00000556169,;NFATC4,missense_variant,p.Arg458Ile,ENST00000539237,;NFATC4,missense_variant,p.Arg356Ile,ENST00000557451,;NFATC4,missense_variant,p.Arg489Ile,ENST00000554591,;NFATC4,missense_variant,p.Arg439Ile,ENST00000554966,;NFATC4,missense_variant,p.Arg356Ile,ENST00000554344,;NFATC4,upstream_gene_variant,,ENST00000554473,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,upstream_gene_variant,,ENST00000555167,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,upstream_gene_variant,,ENST00000556759,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,upstream_gene_variant,,ENST00000555821,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000557028,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;	1610	43	50	SUCCESS
NFATC4	4776	.	GRCh37	14	24843545	24843545	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	42	0	ENST00000250373.4:c.1746C>A	p.Ala582=	p.A582=	ENST00000250373	NM_004554.4	582	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45089.1	1935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCCAGGA	NONE	.	.	PROSITE_profiles:PS50254,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9,Gene3D:2.60.40.10,Superfamily_domains:SSF49417,Prints_domain:PR01789	.	.	ENSP00000388910	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,synonymous_variant,p.%3D,ENST00000554473,;NFATC4,synonymous_variant,p.%3D,ENST00000555590,;NFATC4,synonymous_variant,p.%3D,ENST00000554661,;NFATC4,synonymous_variant,p.%3D,ENST00000555453,;NFATC4,synonymous_variant,p.%3D,ENST00000553708,;NFATC4,synonymous_variant,p.%3D,ENST00000413692,;NFATC4,synonymous_variant,p.%3D,ENST00000556279,;NFATC4,synonymous_variant,p.%3D,ENST00000553879,;NFATC4,synonymous_variant,p.%3D,ENST00000424781,;NFATC4,synonymous_variant,p.%3D,ENST00000554050,;NFATC4,synonymous_variant,p.%3D,ENST00000422617,;NFATC4,synonymous_variant,p.%3D,ENST00000250373,;NFATC4,synonymous_variant,p.%3D,ENST00000553469,;NFATC4,synonymous_variant,p.%3D,ENST00000556169,;NFATC4,synonymous_variant,p.%3D,ENST00000539237,;NFATC4,synonymous_variant,p.%3D,ENST00000555167,;NFATC4,synonymous_variant,p.%3D,ENST00000557451,;NFATC4,synonymous_variant,p.%3D,ENST00000554591,;NFATC4,synonymous_variant,p.%3D,ENST00000556759,;NFATC4,synonymous_variant,p.%3D,ENST00000554966,;NFATC4,synonymous_variant,p.%3D,ENST00000554344,;NFATC4,5_prime_UTR_variant,,ENST00000555393,;NFATC4,5_prime_UTR_variant,,ENST00000557767,;NFATC4,5_prime_UTR_variant,,ENST00000555802,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,upstream_gene_variant,,ENST00000555821,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000557028,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,downstream_gene_variant,,ENST00000556957,;	2079	42	42	SUCCESS
NKX2-8	26257	.	GRCh37	14	37051488	37051488	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	92	0	ENST00000258829.5:c.107A>T	p.Gln36Leu	p.Q36L	ENST00000258829	NM_014360.2	36	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9660.1	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCTGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340:SF27,hmmpanther:PTHR24340	.	.	ENSP00000258829	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000258829	Transcript	.	.	ENSG00000136327	16364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.3)	.	NKX28_HUMAN	NKX2-8	HGNC	.	.	UPI0000074709	SNV	NKX2-8,missense_variant,p.Gln36Leu,ENST00000258829,;RPL29P3,upstream_gene_variant,,ENST00000486611,;	325	92	65	SUCCESS
TTC6	319089	.	GRCh37	14	38281579	38281579	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	91	0	ENST00000267368.7:c.532A>T	p.Thr178Ser	p.T178S	ENST00000267368		178	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	.	4630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATACCTTC	NONE	.	.	Superfamily_domains:SSF48452,Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF00515,Gene3D:1.25.40.10,hmmpanther:PTHR23083:SF351,hmmpanther:PTHR23083,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293	.	.	ENSP00000451131	.	25/31	.	.	.	.	.	.	.	.	.	25/31	PASS	ENST00000553443	Transcript	.	.	ENSG00000139865	19739	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.674)	.	tolerated(0.33)	.	.	TTC6	HGNC	Q3SY87_HUMAN,G3V3A5_HUMAN	.	UPI00021CF1B4	SNV	TTC6,missense_variant,p.Thr178Ser,ENST00000267368,;TTC6,missense_variant,p.Thr1544Ser,ENST00000553443,;TTC6,missense_variant,p.Thr258Ser,ENST00000382320,;TTC6,missense_variant,p.Thr178Ser,ENST00000476979,;TTC6,missense_variant,p.Thr275Ser,ENST00000478811,;TTC6,intron_variant,,ENST00000533625,;	4630	91	65	SUCCESS
KLHL28	54813	.	GRCh37	14	45414552	45414552	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	46	91	0	ENST00000396128.4:c.580A>T	p.Thr194Ser	p.T194S	ENST00000396128	NM_017658.3	194	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9680.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGTAGCTA	NONE	.	.	hmmpanther:PTHR24412:SF30,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037	.	.	ENSP00000379434	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000396128	Transcript	.	.	ENSG00000179454	19741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	KLH28_HUMAN	KLHL28	HGNC	J3KRJ0_HUMAN,G3V5Y9_HUMAN,G3V4Y0_HUMAN,G3V2P9_HUMAN	.	UPI00001FD46D	SNV	KLHL28,missense_variant,p.Thr208Ser,ENST00000355081,;KLHL28,missense_variant,p.Thr194Ser,ENST00000579157,;KLHL28,missense_variant,p.Thr194Ser,ENST00000396128,;KLHL28,downstream_gene_variant,,ENST00000556239,;KLHL28,downstream_gene_variant,,ENST00000556500,;KLHL28,downstream_gene_variant,,ENST00000557468,;	700	91	103	SUCCESS
FANCM	57697	.	GRCh37	14	45658267	45658267	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	43	107	0	ENST00000267430.5:c.5042A>T	p.Asn1681Ile	p.N1681I	ENST00000267430	NM_020937.2	1681	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS32070.1	5042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAAATGATA	NONE	.	.	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	.	.	ENSP00000267430	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000267430	Transcript	.	.	ENSG00000187790	23168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.668)	.	deleterious(0.03)	.	FANCM_HUMAN	FANCM	HGNC	.	.	UPI000059F032	SNV	FANCM,missense_variant,p.Asn614Ile,ENST00000554809,;FANCM,missense_variant,p.Asn1655Ile,ENST00000542564,;FANCM,missense_variant,p.Asn1197Ile,ENST00000556250,;FANCM,missense_variant,p.Asn1681Ile,ENST00000267430,;FANCM,downstream_gene_variant,,ENST00000555013,;	5127	107	103	SUCCESS
POLE2	5427	.	GRCh37	14	50140842	50140842	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	80	0	ENST00000216367.5:c.416A>T	p.Gln139Leu	p.Q139L	ENST00000216367	NM_002692.3	139	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS32073.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTGGTGC	NONE	.	.	hmmpanther:PTHR12708,hmmpanther:PTHR12708:SF0,PIRSF_domain:PIRSF000799	.	.	ENSP00000216367	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000216367	Transcript	.	.	ENSG00000100479	9178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DPOE2_HUMAN	POLE2	HGNC	.	.	UPI0000129744	SNV	POLE2,missense_variant,p.Gln113Leu,ENST00000539565,;POLE2,missense_variant,p.Gln139Leu,ENST00000216367,;POLE2,missense_variant,p.Gln139Leu,ENST00000554396,;POLE2,splice_region_variant,,ENST00000556584,;RP11-831F12.3,upstream_gene_variant,,ENST00000554632,;	516	80	87	SUCCESS
NEMF	9147	.	GRCh37	14	50318359	50318359	+	synonymous_variant	Silent	SNP	T	T	C	rs548635945	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	52	0	ENST00000298310.5:c.153A>G	p.Leu51=	p.L51=	ENST00000298310		51	ttA/ttG	0	.	C:0.0008	.	C:0	.	C	L	protein_coding	YES	CCDS9694.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTAAAAG	NONE	by1000G	.	hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1,Gene3D:3doaA01,Pfam_domain:PF05833	C:0	.	ENSP00000298310	C:0	3/33	.	.	.	.	.	.	.	.	rs548635945	3/33	PASS	ENST00000298310	Transcript	.	C:0.0002	ENSG00000165525	10663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	NEMF_HUMAN	NEMF	HGNC	.	.	UPI0000246D16	SNV	NEMF,synonymous_variant,p.%3D,ENST00000546046,;NEMF,synonymous_variant,p.%3D,ENST00000554626,;NEMF,synonymous_variant,p.%3D,ENST00000555970,;NEMF,synonymous_variant,p.%3D,ENST00000298310,;NEMF,synonymous_variant,p.%3D,ENST00000545773,;NEMF,synonymous_variant,p.%3D,ENST00000556672,;RN7SL3,downstream_gene_variant,,ENST00000578231,;NEMF,non_coding_transcript_exon_variant,,ENST00000557380,;NEMF,non_coding_transcript_exon_variant,,ENST00000554162,;	603	52	59	SUCCESS
TMX1	81542	.	GRCh37	14	51721056	51721056	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	62	157	0	ENST00000457354.2:c.665-3A>T		p.X222_splice	ENST00000457354	NM_030755.4	222		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41953.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTAAGAAA	NONE	.	.	.	.	.	ENSP00000393316	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000457354	Transcript	.	.	ENSG00000139921	15487	.	.	LOW	7/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMX1_HUMAN	TMX1	HGNC	.	.	UPI0000048EB4	SNV	TMX1,splice_region_variant,,ENST00000457354,;Y_RNA,upstream_gene_variant,,ENST00000364950,;TMX1,splice_region_variant,,ENST00000556683,;	.	158	136	SUCCESS
NID2	22795	.	GRCh37	14	52481921	52481921	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	117	0	ENST00000216286.5:c.3101C>G	p.Pro1034Arg	p.P1034R	ENST00000216286	NM_007361.3	1034	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS9706.1	3101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGGGGTG	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF5,Pfam_domain:PF00086,Gene3D:4.10.800.10,Superfamily_domains:SSF57610	.	.	ENSP00000216286	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Pro303Arg,ENST00000556572,;NID2,missense_variant,p.Pro933Arg,ENST00000541773,;NID2,missense_variant,p.Pro1034Arg,ENST00000216286,;NID2,non_coding_transcript_exon_variant,,ENST00000557051,;NID2,upstream_gene_variant,,ENST00000553297,;	3101	117	104	SUCCESS
GPR137C	283554	.	GRCh37	14	53100355	53100355	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	70	0	ENST00000321662.6:c.975G>T	p.Gln325His	p.Q325H	ENST00000321662	NM_001099652.1	325	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS45106.1	975	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGAGATT	NONE	.	.	hmmpanther:PTHR15146:SF1,hmmpanther:PTHR15146	.	.	ENSP00000315106	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000321662	Transcript	.	.	ENSG00000180998	25445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	tolerated(0.33)	.	G137C_HUMAN	GPR137C	HGNC	B3KW22_HUMAN	.	UPI0000043F5A	SNV	GPR137C,missense_variant,p.Gln325His,ENST00000321662,;GPR137C,missense_variant,p.Gln295His,ENST00000542169,;GPR137C,downstream_gene_variant,,ENST00000555622,;GPR137C,non_coding_transcript_exon_variant,,ENST00000555369,;	975	70	65	SUCCESS
DDHD1	80821	.	GRCh37	14	53521180	53521180	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	60	200	0	ENST00000323669.5:c.2413A>T	p.Ser805Cys	p.S805C	ENST00000323669	NM_001160148.1	805	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS53895.1	2413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTGCTAT	NONE	.	.	PROSITE_profiles:PS51043,hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF4,Pfam_domain:PF02862	.	.	ENSP00000327104	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000323669	Transcript	.	.	ENSG00000100523	19714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	tolerated(0.08)	.	DDHD1_HUMAN	DDHD1	HGNC	G3V2P6_HUMAN	.	UPI00001D7B55	SNV	DDHD1,missense_variant,p.Ser812Cys,ENST00000395606,;DDHD1,missense_variant,p.Ser805Cys,ENST00000323669,;DDHD1,missense_variant,p.Ser805Cys,ENST00000357758,;DDHD1,upstream_gene_variant,,ENST00000555621,;DDHD1,non_coding_transcript_exon_variant,,ENST00000555400,;DDHD1,non_coding_transcript_exon_variant,,ENST00000556027,;	2413	200	126	SUCCESS
DDHD1	80821	.	GRCh37	14	53521253	53521253	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	73	209	0	ENST00000323669.5:c.2340A>G	p.Ser780=	p.S780=	ENST00000323669	NM_001160148.1	780	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS53895.1	2340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATTGAGTC	NONE	.	.	PROSITE_profiles:PS51043,hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF4,Pfam_domain:PF02862	.	.	ENSP00000327104	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000323669	Transcript	.	.	ENSG00000100523	19714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDHD1_HUMAN	DDHD1	HGNC	G3V2P6_HUMAN	.	UPI00001D7B55	SNV	DDHD1,synonymous_variant,p.%3D,ENST00000395606,;DDHD1,synonymous_variant,p.%3D,ENST00000323669,;DDHD1,synonymous_variant,p.%3D,ENST00000357758,;DDHD1,upstream_gene_variant,,ENST00000555621,;DDHD1,non_coding_transcript_exon_variant,,ENST00000555400,;DDHD1,non_coding_transcript_exon_variant,,ENST00000556027,;	2340	209	166	SUCCESS
C14orf105	0	.	GRCh37	14	57960276	57960276	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1431816495	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	41	0	ENST00000216445.3:c.158A>G	p.Gln53Arg	p.Q53R	ENST00000216445	NM_018168.2	53	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9730.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTGGTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16065,Pfam_domain:PF15398	.	.	ENSP00000216445	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000216445	Transcript	.	.	ENSG00000100557	20189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(1)	.	CN105_HUMAN	C14orf105	HGNC	.	.	UPI000013C6ED	SNV	C14orf105,missense_variant,p.Gln53Arg,ENST00000526336,;C14orf105,missense_variant,p.Gln53Arg,ENST00000534126,;C14orf105,missense_variant,p.Gln53Arg,ENST00000216445,;C14orf105,missense_variant,p.Gln53Arg,ENST00000422976,;C14orf105,missense_variant,p.Gln53Arg,ENST00000534528,;C14orf105,missense_variant,p.Gln53Arg,ENST00000526745,;C14orf105,missense_variant,p.Gln53Arg,ENST00000530417,;C14orf105,missense_variant,p.Gln53Arg,ENST00000529860,;	295	41	45	SUCCESS
KIAA0586	9786	.	GRCh37	14	58924599	58924599	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	95	0	ENST00000354386.6:c.1644A>G	p.Gln548=	p.Q548=	ENST00000354386	NM_001244189.1	548	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS58320.1	1644	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAAAACAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2,Pfam_domain:PF15324	.	.	ENSP00000346359	.	13/34	.	.	.	.	.	.	.	.	.	13/34	PASS	ENST00000354386	Transcript	.	.	ENSG00000100578	19960	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TALD3_HUMAN	KIAA0586	HGNC	.	.	UPI0001AE6998	SNV	KIAA0586,synonymous_variant,p.%3D,ENST00000261244,;KIAA0586,synonymous_variant,p.%3D,ENST00000423743,;KIAA0586,synonymous_variant,p.%3D,ENST00000354386,;KIAA0586,synonymous_variant,p.%3D,ENST00000556134,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	1888	95	69	SUCCESS
SIX4	51804	.	GRCh37	14	61190041	61190041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	33	0	ENST00000216513.4:c.752C>A	p.Ala251Asp	p.A251D	ENST00000216513	NM_017420.4	251	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS9749.2	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCGGCGGGC	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22,PROSITE_profiles:PS50071	.	.	ENSP00000216513	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.38)	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,missense_variant,p.Ala243Asp,ENST00000556952,;SIX4,missense_variant,p.Ala251Asp,ENST00000216513,;SIX4,upstream_gene_variant,,ENST00000554079,;	812	33	27	SUCCESS
SIX4	51804	.	GRCh37	14	61190042	61190042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	32	0	ENST00000216513.4:c.751G>T	p.Ala251Ser	p.A251S	ENST00000216513	NM_017420.4	251	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9749.2	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCGGGCG	NONE	.	.	Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22,PROSITE_profiles:PS50071	.	.	ENSP00000216513	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.294)	.	tolerated(0.19)	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,missense_variant,p.Ala243Ser,ENST00000556952,;SIX4,missense_variant,p.Ala251Ser,ENST00000216513,;SIX4,upstream_gene_variant,,ENST00000554079,;	811	32	27	SUCCESS
MTHFD1	4522	.	GRCh37	14	64886605	64886605	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	41	97	0	ENST00000216605.8:c.689G>T	p.Gly230Val	p.G230V	ENST00000216605	NM_005956.3	230	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS9763.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGGGCAA	NONE	.	.	Prints_domain:PR00085,Superfamily_domains:SSF51735,Pfam_domain:PF02882,Gene3D:3.40.50.720,hmmpanther:PTHR10025:SF30,hmmpanther:PTHR10025,HAMAP:MF_01576	.	.	ENSP00000216605	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000216605	Transcript	.	.	ENSG00000100714	7432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	C1TC_HUMAN	MTHFD1	HGNC	.	.	UPI000013C6FA	SNV	MTHFD1,missense_variant,p.Gly230Val,ENST00000216605,;MTHFD1,missense_variant,p.Gly286Val,ENST00000545908,;MTHFD1,downstream_gene_variant,,ENST00000555709,;MTHFD1,downstream_gene_variant,,ENST00000554739,;MTHFD1,downstream_gene_variant,,ENST00000554768,;MTHFD1,downstream_gene_variant,,ENST00000557539,;CTD-2555O16.2,downstream_gene_variant,,ENST00000556640,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000554057,;MTHFD1,upstream_gene_variant,,ENST00000553391,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000555252,;	767	97	79	SUCCESS
SPTB	6710	.	GRCh37	14	65267543	65267543	+	synonymous_variant	Silent	SNP	A	A	G	rs115882528	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	43	124	0	ENST00000389721.5:c.807T>C	p.Tyr269=	p.Y269=	ENST00000389721	NM_000347.5	269	taT/taC	0	G:0.0043	G:0.0053	.	G:0	.	G	Y	protein_coding	YES	CCDS32099.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACATAGGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF00307,Gene3D:1.10.418.10,PIRSF_domain:PIRSF002297,SMART_domains:SM00033,Superfamily_domains:SSF47576	G:0	G:0	ENSP00000374372	G:0	7/35	.	.	.	.	.	.	.	.	rs115882528	7/35	common_in_exac	ENST00000389722	Transcript	.	G:0.0014	ENSG00000070182	11274	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,synonymous_variant,p.%3D,ENST00000389721,;SPTB,synonymous_variant,p.%3D,ENST00000556626,;SPTB,synonymous_variant,p.%3D,ENST00000389722,;SPTB,synonymous_variant,p.%3D,ENST00000542895,;SPTB,synonymous_variant,p.%3D,ENST00000389720,;	861	124	102	SUCCESS
PLEK2	26499	.	GRCh37	14	67857415	67857415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	105	0	ENST00000216446.4:c.820G>A	p.Asp274Asn	p.D274N	ENST00000216446	NM_016445.1	274	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS9782.1	820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCCTTCC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12092:SF2,hmmpanther:PTHR12092,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000216446	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000216446	Transcript	.	.	ENSG00000100558	19238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.09)	.	PLEK2_HUMAN	PLEK2	HGNC	.	.	UPI0000035D89	SNV	PLEK2,missense_variant,p.Asp274Asn,ENST00000216446,;PLEK2,missense_variant,p.Asp174Asn,ENST00000554395,;PLEK2,intron_variant,,ENST00000556532,;EIF2S1,downstream_gene_variant,,ENST00000256383,;PLEK2,3_prime_UTR_variant,,ENST00000553387,;PLEK2,3_prime_UTR_variant,,ENST00000555803,;	961	106	85	SUCCESS
RAD51B	5890	.	GRCh37	14	68758622	68758622	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755116311	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	44	0	ENST00000487270.1:c.778A>G	p.Thr260Ala	p.T260A	ENST00000487270	NM_133509.3	260	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS9789.1	778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTACAACC	NONE	.	.	hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF15,Gene3D:3.40.50.300,Pfam_domain:PF08423,PIRSF_domain:PIRSF005856,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000419471	.	8/11	.	.	.	.	.	.	.	.	rs755116311	8/11	PASS	ENST00000487270	Transcript	.	.	ENSG00000182185	9822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.06)	.	RA51B_HUMAN	RAD51B	HGNC	G3V4W9_HUMAN,C9J5S9_HUMAN	.	UPI0000073AB0	SNV	RAD51B,missense_variant,p.Thr260Ala,ENST00000471583,;RAD51B,missense_variant,p.Thr260Ala,ENST00000488612,;RAD51B,missense_variant,p.Thr260Ala,ENST00000390683,;RAD51B,missense_variant,p.Thr260Ala,ENST00000487861,;RAD51B,missense_variant,p.Thr260Ala,ENST00000487270,;RAD51B,non_coding_transcript_exon_variant,,ENST00000469165,;RAD51B,non_coding_transcript_exon_variant,,ENST00000460526,;RAD51B,non_coding_transcript_exon_variant,,ENST00000468382,;RAD51B,non_coding_transcript_exon_variant,,ENST00000492236,;RAD51B,non_coding_transcript_exon_variant,,ENST00000557045,;RAD51B,non_coding_transcript_exon_variant,,ENST00000478014,;RAD51B,non_coding_transcript_exon_variant,,ENST00000497460,;RAD51B,non_coding_transcript_exon_variant,,ENST00000554244,;RAD51B,non_coding_transcript_exon_variant,,ENST00000553595,;RAD51B,3_prime_UTR_variant,,ENST00000479335,;	826	44	40	SUCCESS
GALNT16	57452	.	GRCh37	14	69727044	69727044	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	59	0	ENST00000337827.4:c.37A>T	p.Thr13Ser	p.T13S	ENST00000337827	NM_020692.2	13	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS32107.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGACCGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF3	.	.	ENSP00000336729	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000337827	Transcript	.	.	ENSG00000100626	23233	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	tolerated(0.7)	.	GLT16_HUMAN	GALNT16	HGNC	Q68VJ8_HUMAN	.	UPI000004D296	SNV	GALNT16,missense_variant,p.Thr13Ser,ENST00000448469,;GALNT16,missense_variant,p.Thr13Ser,ENST00000553669,;GALNT16,missense_variant,p.Thr13Ser,ENST00000337827,;RP11-363J20.2,non_coding_transcript_exon_variant,,ENST00000556316,;GALNT16,non_coding_transcript_exon_variant,,ENST00000555920,;GALNT16,non_coding_transcript_exon_variant,,ENST00000554317,;GALNT16,non_coding_transcript_exon_variant,,ENST00000554858,;GALNT16,missense_variant,p.Thr13Ser,ENST00000553471,;	364	59	42	SUCCESS
PLEKHD1	400224	.	GRCh37	14	69967307	69967307	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	40	0	ENST00000322564.7:c.257T>A	p.Leu86Gln	p.L86Q	ENST00000322564	NM_001161498.1	86	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS53903.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGGGGG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR14383,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000317175	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000322564	Transcript	.	.	ENSG00000175985	20148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PLHD1_HUMAN	PLEKHD1	HGNC	.	.	UPI0000EE334F	SNV	PLEKHD1,missense_variant,p.Leu86Gln,ENST00000322564,;PLEKHD1,non_coding_transcript_exon_variant,,ENST00000556123,;	469	40	29	SUCCESS
SIPA1L1	26037	.	GRCh37	14	72200517	72200517	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	27	0	ENST00000555818.1:c.5059A>G	p.Lys1687Glu	p.K1687E	ENST00000555818	NM_015556.1	1687	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9807.1	5059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAAAGCC	NONE	.	.	Pfam_domain:PF11881,hmmpanther:PTHR15711:SF10,hmmpanther:PTHR15711	.	.	ENSP00000450832	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000555818	Transcript	.	.	ENSG00000197555	20284	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	SI1L1_HUMAN	SIPA1L1	HGNC	G3V4Z3_HUMAN	.	UPI00000443CB	SNV	SIPA1L1,missense_variant,p.Lys1141Glu,ENST00000537413,;SIPA1L1,missense_variant,p.Lys1666Glu,ENST00000358550,;SIPA1L1,missense_variant,p.Lys1666Glu,ENST00000381232,;SIPA1L1,missense_variant,p.Lys1687Glu,ENST00000555818,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000556959,;	5407	27	32	SUCCESS
CCDC176	0	.	GRCh37	14	74514721	74514721	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	36	229	1	ENST00000394009.3:c.736C>T	p.Leu246=	p.L246=	ENST00000394009	NM_025057.2	246	Cta/Tta	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32119.2	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTCTACAA	NONE	.	.	hmmpanther:PTHR14845:SF0,hmmpanther:PTHR14845,Pfam_domain:PF14988	.	.	ENSP00000377577	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000394009	Transcript	.	.	ENSG00000119636	19855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBOF1_HUMAN	CCDC176	HGNC	G3V488_HUMAN	.	UPI0000D4A9D0	SNV	CCDC176,synonymous_variant,p.%3D,ENST00000464394,;CCDC176,synonymous_variant,p.%3D,ENST00000394009,;CCDC176,5_prime_UTR_variant,,ENST00000553773,;CCDC176,non_coding_transcript_exon_variant,,ENST00000489323,;AC005484.5,non_coding_transcript_exon_variant,,ENST00000492026,;CCDC176,non_coding_transcript_exon_variant,,ENST00000477986,;	859	230	154	SUCCESS
CCDC176	0	.	GRCh37	14	74514746	74514757	+	inframe_deletion	In_Frame_Del	DEL	AAGAGAGTCATA	AAGAGAGTCATA	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	AAGAGAGTCATA	AAGAGAGTCATA	.	.	.	.	.	.	.	.	.	.	.	.	.	116	28	208	0	ENST00000394009.3:c.761_772del	p.Gln254_Thr258delinsPro	p.Q254_T258delinsP	ENST00000394009	NM_025057.2	254	cAAGAGAGTCATAct/cct	0	.	.	.	.	.	-	QESHT/P	protein_coding	YES	CCDS32119.2	761-772	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTTGCAAGAGAGTCATACTTTA	NONE	.	.	hmmpanther:PTHR14845:SF0,hmmpanther:PTHR14845,Pfam_domain:PF14988	.	.	ENSP00000377577	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000394009	Transcript	.	.	ENSG00000119636	19855	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BBOF1_HUMAN	CCDC176	HGNC	G3V488_HUMAN	.	UPI0000D4A9D0	deletion	CCDC176,inframe_deletion,p.Gln114_Thr118delinsPro,ENST00000464394,;CCDC176,inframe_deletion,p.Gln254_Thr258delinsPro,ENST00000394009,;CCDC176,5_prime_UTR_variant,,ENST00000553773,;CCDC176,non_coding_transcript_exon_variant,,ENST00000489323,;AC005484.5,non_coding_transcript_exon_variant,,ENST00000492026,;CCDC176,non_coding_transcript_exon_variant,,ENST00000477986,;	884-895	208	144	SUCCESS
LTBP2	4053	.	GRCh37	14	75019087	75019087	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	25	0	ENST00000261978.4:c.1202A>T	p.Gln401Leu	p.Q401L	ENST00000261978	NM_000428.2	401	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9831.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTGGCAG	NONE	.	.	SMART_domains:SM00181,hmmpanther:PTHR24034:SF40,hmmpanther:PTHR24034,PROSITE_profiles:PS50026	.	.	ENSP00000261978	.	6/36	.	.	.	.	.	.	.	.	.	6/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,missense_variant,p.Gln401Leu,ENST00000261978,;LTBP2,missense_variant,p.Gln401Leu,ENST00000556690,;LTBP2,intron_variant,,ENST00000556359,;CTD-2207P18.1,non_coding_transcript_exon_variant,,ENST00000554552,;LTBP2,intron_variant,,ENST00000557425,;LTBP2,missense_variant,p.Gln401Leu,ENST00000553939,;	1589	25	21	SUCCESS
LTBP2	4053	.	GRCh37	14	75078477	75078477	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	19	0	ENST00000261978.4:c.171G>A	p.Gly57=	p.G57=	ENST00000261978	NM_000428.2	57	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9831.1	171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCCCAGG	NONE	.	.	.	.	.	ENSP00000261978	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000261978	Transcript	.	.	ENSG00000119681	6715	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTBP2_HUMAN	LTBP2	HGNC	G3V254_HUMAN	.	UPI000013D239	SNV	LTBP2,synonymous_variant,p.%3D,ENST00000261978,;LTBP2,synonymous_variant,p.%3D,ENST00000556690,;LTBP2,intron_variant,,ENST00000556359,;CTD-2207P18.2,downstream_gene_variant,,ENST00000556652,;CTD-2207P18.2,downstream_gene_variant,,ENST00000555313,;LTBP2,intron_variant,,ENST00000557425,;LTBP2,synonymous_variant,p.%3D,ENST00000553939,;	558	19	19	SUCCESS
MLH3	27030	.	GRCh37	14	75516322	75516322	+	synonymous_variant	Silent	SNP	A	A	G	rs975722088	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	32	77	0	ENST00000355774.2:c.37T>C	p.Leu13=	p.L13=	ENST00000355774	NM_001040108.1	13	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS32123.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCAATTTGG	NONE	.	.	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	.	.	ENSP00000348020	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000355774	Transcript	.	.	ENSG00000119684	7128	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLH3_HUMAN	MLH3	HGNC	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN	.	UPI00001AEEE0	SNV	MLH3,synonymous_variant,p.%3D,ENST00000556257,;MLH3,synonymous_variant,p.%3D,ENST00000557648,;MLH3,synonymous_variant,p.%3D,ENST00000553263,;MLH3,synonymous_variant,p.%3D,ENST00000556740,;MLH3,synonymous_variant,p.%3D,ENST00000355774,;MLH3,synonymous_variant,p.%3D,ENST00000238662,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000553713,;ACYP1,downstream_gene_variant,,ENST00000555694,;ACYP1,downstream_gene_variant,,ENST00000555463,;ACYP1,downstream_gene_variant,,ENST00000238618,;MLH3,upstream_gene_variant,,ENST00000544985,;ACYP1,downstream_gene_variant,,ENST00000357971,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	253	77	59	SUCCESS
FOS	2353	.	GRCh37	14	75747981	75747981	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	36	0	ENST00000303562.4:c.997A>T	p.Ser333Cys	p.S333C	ENST00000303562	NM_005252.3	333	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS9841.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23351:SF4,hmmpanther:PTHR23351	.	.	ENSP00000306245	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303562	Transcript	.	.	ENSG00000170345	3796	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.26)	.	FOS_HUMAN	FOS	HGNC	Q76MZ0_HUMAN,Q76MY9_HUMAN,Q6FG41_HUMAN,G3V2V7_HUMAN,A8K4E2_HUMAN	.	UPI000000D8F5	SNV	FOS,missense_variant,p.Ser185Cys,ENST00000555347,;FOS,missense_variant,p.Ser219Cys,ENST00000555686,;FOS,missense_variant,p.Ser333Cys,ENST00000303562,;FOS,missense_variant,p.Ser297Cys,ENST00000535987,;FOS,downstream_gene_variant,,ENST00000555242,;FOS,downstream_gene_variant,,ENST00000555672,;FOS,downstream_gene_variant,,ENST00000554212,;FOS,downstream_gene_variant,,ENST00000557139,;FOS,downstream_gene_variant,,ENST00000554617,;FOS,downstream_gene_variant,,ENST00000556324,;	1206	36	30	SUCCESS
SAMD15	161394	.	GRCh37	14	77844096	77844096	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	79	0	ENST00000216471.4:c.335C>G	p.Ser112Cys	p.S112C	ENST00000216471	NM_001010860.1	112	tCc/tGc	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS32126.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATCCAGAG	NONE	.	.	hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF55	.	.	ENSP00000216471	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000216471	Transcript	.	.	ENSG00000100583	18631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	tolerated(0.18)	.	SAM15_HUMAN	SAMD15	HGNC	G3V2Z3_HUMAN	.	UPI0000072F0E	SNV	SAMD15,missense_variant,p.Ser112Cys,ENST00000216471,;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,;	621	79	57	SUCCESS
ISM2	145501	.	GRCh37	14	77942113	77942113	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	40	0	ENST00000342219.4:c.1541G>A	p.Ser514Asn	p.S514N	ENST00000342219	NM_199296.2	514	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS9864.1	1541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGCTGATG	NONE	.	.	PROSITE_profiles:PS50856,hmmpanther:PTHR10239:SF24,hmmpanther:PTHR10239,Pfam_domain:PF03782,SMART_domains:SM00723	.	.	ENSP00000341490	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000342219	Transcript	.	.	ENSG00000100593	23176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	deleterious(0)	.	ISM2_HUMAN	ISM2	HGNC	G3XAI3_HUMAN	.	UPI000019950C	SNV	ISM2,missense_variant,p.Ser433Asn,ENST00000429906,;ISM2,missense_variant,p.Ser514Asn,ENST00000342219,;ISM2,missense_variant,p.Ser433Asn,ENST00000412904,;ISM2,missense_variant,p.Ser426Asn,ENST00000393684,;ISM2,3_prime_UTR_variant,,ENST00000493585,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,downstream_gene_variant,,ENST00000487738,;	1598	41	34	SUCCESS
FLRT2	23768	.	GRCh37	14	86089087	86089087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	74	195	0	ENST00000330753.4:c.1229A>G	p.Asp410Gly	p.D410G	ENST00000330753	NM_013231.4	410	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS9877.1	1229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGACTGGG	NONE	.	.	hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.41)	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,missense_variant,p.Asp410Gly,ENST00000330753,;FLRT2,missense_variant,p.Asp410Gly,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	1996	195	176	SUCCESS
GALC	2581	.	GRCh37	14	88401194	88401194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	66	0	ENST00000261304.2:c.1940A>T	p.Asp647Val	p.D647V	ENST00000261304	NM_000153.3	647	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9878.2	1940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTCATTC	NONE	.	.	Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1	.	.	ENSP00000261304	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000261304	Transcript	.	.	ENSG00000054983	4115	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.247)	.	deleterious(0.01)	.	GALC_HUMAN	GALC	HGNC	.	.	UPI00001FD982	SNV	GALC,missense_variant,p.Asp624Val,ENST00000393568,;GALC,missense_variant,p.Asp621Val,ENST00000393569,;GALC,missense_variant,p.Asp647Val,ENST00000261304,;GALC,intron_variant,,ENST00000544807,;GALC,3_prime_UTR_variant,,ENST00000555179,;GALC,intron_variant,,ENST00000555000,;	2047	66	55	SUCCESS
GPR65	8477	.	GRCh37	14	88478190	88478190	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	87	0	ENST00000267549.3:c.999A>T	p.Leu333Phe	p.L333F	ENST00000267549	NM_003608.3	333	ttA/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS9879.1	999	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTAGAGGT	NONE	.	.	hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF36,Prints_domain:PR01649	.	.	ENSP00000267549	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000267549	Transcript	.	.	ENSG00000140030	4517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious_low_confidence(0.02)	.	PSYR_HUMAN	GPR65	HGNC	B5B0C2_HUMAN	.	UPI000007422C	SNV	GPR65,missense_variant,p.Leu333Phe,ENST00000267549,;RP11-300J18.2,intron_variant,,ENST00000554433,;	1557	87	76	SUCCESS
KCNK10	54207	.	GRCh37	14	88707163	88707163	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs1264947040	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	20	0	ENST00000340700.5:c.389A>G	p.His130Arg	p.H130R	ENST00000340700	NM_021161.4	130	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS9881.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATGCTGC	NONE	.	.	hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32,Prints_domain:PR01499	.	.	ENSP00000312811	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000319231	Transcript	.	.	ENSG00000100433	6273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.39)	.	KCNKA_HUMAN	KCNK10	HGNC	.	.	UPI000002A697	SNV	KCNK10,missense_variant,p.His118Arg,ENST00000556282,;KCNK10,missense_variant,p.His135Arg,ENST00000312350,;KCNK10,missense_variant,p.His135Arg,ENST00000319231,;KCNK10,missense_variant,p.His130Arg,ENST00000340700,;	855	20	29	SUCCESS
ZC3H14	79882	.	GRCh37	14	89044335	89044335	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	91	311	0	ENST00000251038.5:c.1130A>C	p.Gln377Pro	p.Q377P	ENST00000251038	NM_024824.4	377	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS32133.1	1130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACAGAAAC	NONE	.	.	hmmpanther:PTHR14738,hmmpanther:PTHR14738:SF29	.	.	ENSP00000251038	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000251038	Transcript	1	.	ENSG00000100722	20509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.08)	.	ZC3HE_HUMAN	ZC3H14	HGNC	G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN	.	UPI00001BDB9B	SNV	ZC3H14,missense_variant,p.Gln343Pro,ENST00000336693,;ZC3H14,missense_variant,p.Gln377Pro,ENST00000555755,;ZC3H14,missense_variant,p.Gln343Pro,ENST00000359301,;ZC3H14,missense_variant,p.Gln377Pro,ENST00000556945,;ZC3H14,missense_variant,p.Gln222Pro,ENST00000557607,;ZC3H14,missense_variant,p.Gln377Pro,ENST00000393514,;ZC3H14,missense_variant,p.Gln377Pro,ENST00000302216,;ZC3H14,missense_variant,p.Gln293Pro,ENST00000556000,;ZC3H14,missense_variant,p.Gln377Pro,ENST00000251038,;ZC3H14,non_coding_transcript_exon_variant,,ENST00000557047,;ZC3H14,non_coding_transcript_exon_variant,,ENST00000557605,;ZC3H14,splice_acceptor_variant,,ENST00000556110,;	1355	311	245	SUCCESS
EML5	161436	.	GRCh37	14	89154769	89154769	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	57	0	ENST00000380664.5:c.2588del	p.Asn863MetfsTer4	p.N863Mfs*4	ENST00000380664		863	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS45148.1	2588	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGTCATTTTTC	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,PROSITE_profiles:PS50294	.	.	ENSP00000451998	.	18/44	.	.	.	.	.	.	.	.	.	18/44	PASS	ENST00000554922	Transcript	.	.	ENSG00000165521	18197	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EMAL5_HUMAN	EML5	HGNC	.	.	UPI00001C0438	deletion	EML5,frameshift_variant,p.Asn863MetfsTer4,ENST00000554922,;EML5,frameshift_variant,p.Asn863MetfsTer4,ENST00000380664,;EML5,intron_variant,,ENST00000352093,;EML5,intron_variant,,ENST00000553281,;	2837	57	66	SUCCESS
KCNK13	56659	.	GRCh37	14	90650791	90650791	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1182914733	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	103	0	ENST00000282146.4:c.671A>T	p.Tyr224Phe	p.Y224F	ENST00000282146	NM_022054.3	224	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS9889.1	671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTACTTTG	NONE	.	.	hmmpanther:PTHR11003:SF57,hmmpanther:PTHR11003,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324,Prints_domain:PR01588	.	.	ENSP00000282146	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282146	Transcript	.	.	ENSG00000152315	6275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.558)	.	tolerated(0.08)	.	KCNKD_HUMAN	KCNK13	HGNC	B5TJL8_HUMAN	.	UPI0000127A55	SNV	KCNK13,missense_variant,p.Tyr224Phe,ENST00000282146,;	1112	103	85	SUCCESS
FAM181A	90050	.	GRCh37	14	94395161	94395161	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	38	0	ENST00000267594.5:c.716T>A	p.Leu239Gln	p.L239Q	ENST00000267594	NM_138344.4	239	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS9914.1	716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTGGGAC	NONE	.	.	Pfam_domain:PF15238	.	.	ENSP00000267594	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000267594	Transcript	.	.	ENSG00000140067	20491	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	tolerated(0.18)	.	F181A_HUMAN	FAM181A	HGNC	G3V5K4_HUMAN	.	UPI00004567C0	SNV	FAM181A,missense_variant,p.Leu177Gln,ENST00000557719,;FAM181A,missense_variant,p.Leu177Gln,ENST00000557000,;FAM181A,missense_variant,p.Leu177Gln,ENST00000554404,;FAM181A,missense_variant,p.Leu177Gln,ENST00000556222,;FAM181A,missense_variant,p.Leu239Gln,ENST00000267594,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,;	1023	38	20	SUCCESS
LRRK1	79705	.	GRCh37	15	101598240	101598240	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	24	75	0	ENST00000388948.3:c.4573T>A	p.Phe1525Ile	p.F1525I	ENST00000388948	NM_024652.3	1525	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS42086.1	4573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACTTTTGCC	NONE	.	.	PROSITE_profiles:PS50011,SMART_domains:SM00220	.	.	ENSP00000373600	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Phe1525Ile,ENST00000388948,;LRRK1,missense_variant,p.Phe1522Ile,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000525395,;LRRK1,missense_variant,p.Phe202Ile,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;	4932	75	54	SUCCESS
LRRK1	79705	.	GRCh37	15	101605833	101605833	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs921178428	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	69	0	ENST00000388948.3:c.5191A>G	p.Met1731Val	p.M1731V	ENST00000388948	NM_024652.3	1731	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS42086.1	5191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACATGGCC	NONE	.	.	Superfamily_domains:SSF50978	.	.	ENSP00000373600	.	32/34	.	.	.	.	.	.	.	.	.	32/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.39)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Met1731Val,ENST00000388948,;LRRK1,missense_variant,p.Met1728Val,ENST00000284395,;RP11-505E24.2,non_coding_transcript_exon_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,missense_variant,p.Met408Val,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;	5550	69	52	SUCCESS
TARSL2	0	.	GRCh37	15	102252089	102252089	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	68	0	ENST00000335968.3:c.806A>G	p.Glu269Gly	p.E269G	ENST00000335968	NM_152334.2	269	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS10394.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTTCAATG	NONE	.	.	HAMAP:MF_00184,hmmpanther:PTHR11451:SF19,hmmpanther:PTHR11451,Gene3D:1tkeA02,TIGRFAM_domain:TIGR00418,Superfamily_domains:SSF55186	.	.	ENSP00000338093	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000335968	Transcript	.	.	ENSG00000185418	24728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.53)	.	SYTC2_HUMAN	TARSL2	HGNC	.	.	UPI00001FE055	SNV	TARSL2,missense_variant,p.Glu269Gly,ENST00000335968,;TARSL2,missense_variant,p.Glu269Gly,ENST00000539112,;TARSL2,upstream_gene_variant,,ENST00000558533,;TARSL2,downstream_gene_variant,,ENST00000560150,;	1023	68	62	SUCCESS
NPAP1	23742	.	GRCh37	15	24923872	24923872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	52	0	ENST00000329468.2:c.2858C>A	p.Thr953Asn	p.T953N	ENST00000329468	NM_018958.2	953	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS10015.1	2858	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATATACTGCAT	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.18)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Thr953Asn,ENST00000329468,;	3332	52	38	SUCCESS
GABRG3	2567	.	GRCh37	15	27777744	27777744	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	69	0	ENST00000333743.6:c.1123-2A>T		p.X375_splice	ENST00000333743	NM_033223.4	375		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45195.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCAGAACT	NONE	.	.	.	.	.	ENSP00000331912	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333743	Transcript	.	.	ENSG00000182256	4088	.	.	HIGH	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRG3_HUMAN	GABRG3	HGNC	.	.	UPI000012AFCB	SNV	GABRG3,splice_acceptor_variant,,ENST00000333743,;GABRG3,downstream_gene_variant,,ENST00000451330,;RP11-100M12.3,intron_variant,,ENST00000556642,;RP11-100M12.3,downstream_gene_variant,,ENST00000557170,;	.	69	52	SUCCESS
FAN1	22909	.	GRCh37	15	31197069	31197069	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772421002	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	57	134	0	ENST00000362065.4:c.203A>T	p.Asp68Val	p.D68V	ENST00000362065	NM_014967.4	68	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS32186.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGACTTCG	NONE	.	.	hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749	.	.	ENSP00000354497	.	2/15	.	.	.	.	.	.	.	.	rs772421002	2/15	PASS	ENST00000362065	Transcript	1	.	ENSG00000198690	29170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.319)	.	deleterious(0.05)	.	FAN1_HUMAN	FAN1	HGNC	.	.	UPI000006D713	SNV	FAN1,missense_variant,p.Asp68Val,ENST00000561607,;FAN1,missense_variant,p.Asp68Val,ENST00000362065,;FAN1,missense_variant,p.Asp68Val,ENST00000561594,;FAN1,missense_variant,p.Asp68Val,ENST00000565466,;FAN1,intron_variant,,ENST00000562892,;FAN1,missense_variant,p.Asp68Val,ENST00000565280,;RP11-540B6.3,downstream_gene_variant,,ENST00000565492,;	494	134	145	SUCCESS
FMN1	342184	.	GRCh37	15	33091016	33091016	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	74	0	ENST00000559047.1:c.4119A>G	p.Ile1373Met	p.I1373M	ENST00000559047	NM_001277313.1	1373	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS45209.1	3450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGATATGTT	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF8,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000333950	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000334528	Transcript	.	.	ENSG00000248905	3768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.04)	.	FMN1_HUMAN	FMN1	HGNC	.	.	UPI00004086C3	SNV	FMN1,missense_variant,p.Ile1373Met,ENST00000559047,;FMN1,missense_variant,p.Ile1275Met,ENST00000561249,;FMN1,missense_variant,p.Ile1150Met,ENST00000334528,;FMN1,non_coding_transcript_exon_variant,,ENST00000558882,;	3450	74	57	SUCCESS
RYR3	6263	.	GRCh37	15	33954785	33954785	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	32	78	0	ENST00000389232.4:c.5054A>T	p.Glu1685Val	p.E1685V	ENST00000389232	NM_001036.3	1685	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS45210.1	5054	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGAGATTC	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	35/104	.	.	.	.	.	.	.	.	.	35/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Glu1685Val,ENST00000389232,;RYR3,missense_variant,p.Glu1685Val,ENST00000415757,;	5124	78	70	SUCCESS
RYR3	6263	.	GRCh37	15	34080457	34080457	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1296762347	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	89	0	ENST00000389232.4:c.9628C>G	p.Leu3210Val	p.L3210V	ENST00000389232	NM_001036.3	3210	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS45210.1	9628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGACCTGCTG	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	67/104	.	.	.	.	.	.	.	.	.	67/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,missense_variant,p.Leu3210Val,ENST00000389232,;RYR3,missense_variant,p.Leu3210Val,ENST00000415757,;	9698	89	84	SUCCESS
RYR3	6263	.	GRCh37	15	34105180	34105180	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	31	58	0	ENST00000389232.4:c.10374C>T	p.Val3458=	p.V3458=	ENST00000389232	NM_001036.3	3458	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45210.1	10374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCTTCCA	NONE	.	.	hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	.	.	ENSP00000373884	.	73/104	.	.	.	.	.	.	.	.	.	73/104	PASS	ENST00000389232	Transcript	.	.	ENSG00000198838	10485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR3_HUMAN	RYR3	HGNC	.	.	UPI0000E5B01A	SNV	RYR3,synonymous_variant,p.%3D,ENST00000389232,;RYR3,synonymous_variant,p.%3D,ENST00000415757,;	10444	58	51	SUCCESS
RASGRP1	10125	.	GRCh37	15	38804991	38804991	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	70	0	ENST00000310803.5:c.842T>C	p.Val281Ala	p.V281A	ENST00000310803	NM_005739.3	281	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS45222.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCACCTGG	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF174,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000310244	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000310803	Transcript	1	.	ENSG00000172575	9878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	GRP1_HUMAN	RASGRP1	HGNC	H0YNG8_HUMAN,H0YN83_HUMAN,H0YKP8_HUMAN,F5H514_HUMAN	.	UPI000006FE1C	SNV	RASGRP1,missense_variant,p.Val281Ala,ENST00000558164,;RASGRP1,missense_variant,p.Val281Ala,ENST00000450598,;RASGRP1,missense_variant,p.Val233Ala,ENST00000539159,;RASGRP1,missense_variant,p.Val295Ala,ENST00000558432,;RASGRP1,missense_variant,p.Val281Ala,ENST00000310803,;RASGRP1,missense_variant,p.Val332Ala,ENST00000561180,;RASGRP1,missense_variant,p.Val281Ala,ENST00000559830,;RASGRP1,missense_variant,p.Val281Ala,ENST00000414708,;RASGRP1,upstream_gene_variant,,ENST00000560425,;	1020	70	62	SUCCESS
BUB1B	701	.	GRCh37	15	40491906	40491906	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	114	300	0	ENST00000287598.6:c.1379A>T	p.Gln460Leu	p.Q460L	ENST00000287598	NM_001211.5	460	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10053.1	1379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCAGCAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14030,hmmpanther:PTHR14030:SF1	.	.	ENSP00000287598	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000287598	Transcript	1	.	ENSG00000156970	1149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.694)	.	deleterious(0.04)	.	BUB1B_HUMAN	BUB1B	HGNC	.	.	UPI000006E699	SNV	BUB1B,missense_variant,p.Gln474Leu,ENST00000412359,;BUB1B,missense_variant,p.Gln460Leu,ENST00000287598,;BUB1B,3_prime_UTR_variant,,ENST00000559733,;BUB1B,non_coding_transcript_exon_variant,,ENST00000559772,;BUB1B,upstream_gene_variant,,ENST00000558972,;BUB1B,downstream_gene_variant,,ENST00000557848,;	1574	300	264	SUCCESS
PLCB2	5330	.	GRCh37	15	40591344	40591344	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	64	0	ENST00000260402.3:c.668A>T	p.Glu223Val	p.E223V	ENST00000260402	NM_004573.2	223	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS42020.1	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTCATCT	NONE	.	.	hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Pfam_domain:PF09279,Gene3D:1.10.238.10,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF47473	.	.	ENSP00000260402	.	8/32	.	.	.	.	.	.	.	.	.	8/32	PASS	ENST00000260402	Transcript	.	.	ENSG00000137841	9055	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	PLCB2_HUMAN	PLCB2	HGNC	H0YNI4_HUMAN	.	UPI0000D79B75	SNV	PLCB2,missense_variant,p.Glu223Val,ENST00000260402,;PLCB2,missense_variant,p.Glu223Val,ENST00000557821,;PLCB2,missense_variant,p.Glu223Val,ENST00000456256,;PLCB2,downstream_gene_variant,,ENST00000543785,;PLCB2-AS1,upstream_gene_variant,,ENST00000559520,;PLCB2,missense_variant,p.Glu223Val,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000560093,;PLCB2,downstream_gene_variant,,ENST00000559634,;PLCB2,upstream_gene_variant,,ENST00000558409,;	918	64	41	SUCCESS
DISP2	85455	.	GRCh37	15	40660858	40660858	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	27	0	ENST00000267889.3:c.2545A>T	p.Ser849Cys	p.S849C	ENST00000267889	NM_033510.1	849	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS10056.1	2545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCAGCTGC	NONE	.	.	hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	tolerated(0.08)	.	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,missense_variant,p.Ser849Cys,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	2632	27	32	SUCCESS
PPP1R14D	54866	.	GRCh37	15	41120889	41120889	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	39	0	ENST00000299174.5:c.-50T>C		p.*17*	ENST00000299174	NM_017726.7			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45230.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAGAGCC	NONE	.	.	.	.	.	ENSP00000398342	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000427255	Transcript	.	.	ENSG00000166143	14953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	PPP1R14D	HGNC	E9PAT1_HUMAN	.	UPI0000E59BD7	SNV	PPP1R14D,5_prime_UTR_variant,,ENST00000427255,;PPP1R14D,5_prime_UTR_variant,,ENST00000299174,;	19	39	29	SUCCESS
JMJD7-PLA2G4B	8681	.	GRCh37	15	42134021	42134021	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	71	0	ENST00000382448.4:c.1188A>T	p.Ser396=	p.S396=	ENST00000382448		396	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32202.1	1188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGAGCA	NONE	.	.	hmmpanther:PTHR10728:SF31,hmmpanther:PTHR10728	.	.	ENSP00000441905	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000542534	Transcript	.	.	ENSG00000243708	9036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLA2G4B	HGNC	C9K0I3_HUMAN	.	UPI0000070A0F	SNV	PLA2G4B,synonymous_variant,p.%3D,ENST00000458483,;JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000342159,;PLA2G4B,synonymous_variant,p.%3D,ENST00000542534,;JMJD7-PLA2G4B,synonymous_variant,p.%3D,ENST00000382448,;PLA2G4B,synonymous_variant,p.%3D,ENST00000452633,;JMJD7,downstream_gene_variant,,ENST00000397299,;PLA2G4B,upstream_gene_variant,,ENST00000569354,;JMJD7,downstream_gene_variant,,ENST00000408047,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000476036,;JMJD7-PLA2G4B,3_prime_UTR_variant,,ENST00000487292,;PLA2G4B,non_coding_transcript_exon_variant,,ENST00000461382,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;PLA2G4B,upstream_gene_variant,,ENST00000566076,;JMJD7,downstream_gene_variant,,ENST00000478178,;PLA2G4B,upstream_gene_variant,,ENST00000483748,;	1228	71	71	SUCCESS
PLA2G4D	283748	.	GRCh37	15	42364510	42364510	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	47	0	ENST00000290472.3:c.1398T>C	p.Asn466=	p.N466=	ENST00000290472	NM_178034.3	466	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS32203.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACATTGAG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF25,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000290472	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000290472	Transcript	.	.	ENSG00000159337	30038	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PA24D_HUMAN	PLA2G4D	HGNC	.	.	UPI00001FE2F2	SNV	PLA2G4D,synonymous_variant,p.%3D,ENST00000290472,;PLA2G4D,upstream_gene_variant,,ENST00000560932,;	1493	47	38	SUCCESS
LRRC57	255252	.	GRCh37	15	42839595	42839595	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	38	84	0	ENST00000323443.2:c.356A>T	p.Gln119Leu	p.Q119L	ENST00000323443		119	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10089.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTTGGTTC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019	.	.	ENSP00000326817	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000323443	Transcript	.	.	ENSG00000180979	26719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.041)	.	tolerated(0.14)	.	LRC57_HUMAN	LRRC57	HGNC	H3BSW0_HUMAN	.	UPI000004F8C8	SNV	LRRC57,missense_variant,p.Gln119Leu,ENST00000323443,;LRRC57,missense_variant,p.Gln119Leu,ENST00000563454,;LRRC57,missense_variant,p.Gln119Leu,ENST00000397130,;LRRC57,missense_variant,p.Gln119Leu,ENST00000570160,;HAUS2,upstream_gene_variant,,ENST00000568846,;HAUS2,upstream_gene_variant,,ENST00000562398,;SNAP23,downstream_gene_variant,,ENST00000563830,;SNAP23,downstream_gene_variant,,ENST00000568841,;HAUS2,upstream_gene_variant,,ENST00000568876,;HAUS2,upstream_gene_variant,,ENST00000260372,;SNAP23,downstream_gene_variant,,ENST00000563873,;LRRC57,non_coding_transcript_exon_variant,,ENST00000569830,;HAUS2,upstream_gene_variant,,ENST00000391623,;HAUS2,upstream_gene_variant,,ENST00000563479,;HAUS2,upstream_gene_variant,,ENST00000567640,;LRRC57,upstream_gene_variant,,ENST00000562868,;HAUS2,upstream_gene_variant,,ENST00000570178,;HAUS2,upstream_gene_variant,,ENST00000564279,;	724	84	72	SUCCESS
EPB42	2038	.	GRCh37	15	43500883	43500883	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778870883	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	60	112	0	ENST00000441366.2:c.923A>G	p.Tyr308Cys	p.Y308C	ENST00000441366	NM_001114134.1	308	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10093.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATAGTAT	NONE	.	.	hmmpanther:PTHR11590:SF37,hmmpanther:PTHR11590,Gene3D:1ex0A02,Pfam_domain:PF01841,PIRSF_domain:PIRSF000459,SMART_domains:SM00460,Superfamily_domains:SSF54001	.	.	ENSP00000300215	.	7/13	.	.	.	.	.	.	.	.	rs778870883	7/13	PASS	ENST00000300215	Transcript	1	.	ENSG00000166947	3381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.49)	.	deleterious(0.02)	.	EPB42_HUMAN	EPB42	HGNC	Q4VB96_HUMAN	.	UPI000013E639	SNV	EPB42,missense_variant,p.Tyr261Cys,ENST00000568508,;EPB42,missense_variant,p.Tyr161Cys,ENST00000569204,;EPB42,missense_variant,p.Tyr338Cys,ENST00000300215,;EPB42,missense_variant,p.Tyr230Cys,ENST00000540029,;EPB42,missense_variant,p.Tyr308Cys,ENST00000441366,;EPB42,upstream_gene_variant,,ENST00000565459,;EPB42,upstream_gene_variant,,ENST00000563128,;EPB42,non_coding_transcript_exon_variant,,ENST00000567019,;	1471	112	127	SUCCESS
TGM7	116179	.	GRCh37	15	43571862	43571862	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	46	0	ENST00000452443.2:c.1639T>G	p.Trp547Gly	p.W547G	ENST00000452443	NM_052955.2	547	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS32213.1	1639	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGAAGG	NONE	.	.	hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	.	.	ENSP00000389466	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000452443	Transcript	.	.	ENSG00000159495	30790	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.037)	.	deleterious(0)	.	TGM7_HUMAN	TGM7	HGNC	.	.	UPI0000049F68	SNV	TGM7,missense_variant,p.Trp547Gly,ENST00000452443,;TGM7,upstream_gene_variant,,ENST00000562372,;	1644	46	34	SUCCESS
STRC	161497	.	GRCh37	15	43900119	43900119	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	92	239	0	ENST00000450892.2:c.3736T>G	p.Trp1246Gly	p.W1246G	ENST00000450892	NM_153700.2	1246	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS10098.1	3736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCATTCTG	NONE	.	.	hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412	.	.	ENSP00000401513	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000450892	Transcript	1	.	ENSG00000242866	16035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	STRC_HUMAN	STRC	HGNC	E7EPM8_HUMAN	.	UPI000013E60F	SNV	STRC,missense_variant,p.Trp473Gly,ENST00000541030,;STRC,missense_variant,p.Trp1246Gly,ENST00000450892,;CKMT1B,downstream_gene_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000455136,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,non_coding_transcript_exon_variant,,ENST00000448437,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000493750,;STRC,downstream_gene_variant,,ENST00000470279,;STRC,downstream_gene_variant,,ENST00000483250,;	3814	239	189	SUCCESS
WDR76	79968	.	GRCh37	15	44158449	44158449	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	52	118	0	ENST00000263795.6:c.1740A>C	p.Thr580=	p.T580=	ENST00000263795	NM_001167941.1	580	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10106.1	1740	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACAGGAAA	NONE	.	.	hmmpanther:PTHR14773:SF0,hmmpanther:PTHR14773,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000263795	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000263795	Transcript	.	.	ENSG00000092470	25773	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR76_HUMAN	WDR76	HGNC	C9JE56_HUMAN	.	UPI000013D462	SNV	WDR76,synonymous_variant,p.%3D,ENST00000381246,;WDR76,synonymous_variant,p.%3D,ENST00000263795,;FRMD5,downstream_gene_variant,,ENST00000417257,;FRMD5,downstream_gene_variant,,ENST00000402883,;Y_RNA,upstream_gene_variant,,ENST00000363521,;WDR76,non_coding_transcript_exon_variant,,ENST00000478130,;	1810	118	127	SUCCESS
SEMA6D	80031	.	GRCh37	15	48058822	48058822	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	42	101	0	ENST00000316364.5:c.1656A>G	p.Gly552=	p.G552=	ENST00000316364	NM_153618.1	552	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32225.1	1656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGATATGA	NONE	.	.	Superfamily_domains:SSF103575,SMART_domains:SM00423,Gene3D:3.30.1680.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,synonymous_variant,p.%3D,ENST00000389432,;SEMA6D,synonymous_variant,p.%3D,ENST00000560006,;SEMA6D,synonymous_variant,p.%3D,ENST00000559064,;SEMA6D,synonymous_variant,p.%3D,ENST00000537942,;SEMA6D,synonymous_variant,p.%3D,ENST00000358066,;SEMA6D,synonymous_variant,p.%3D,ENST00000354744,;SEMA6D,synonymous_variant,p.%3D,ENST00000389428,;SEMA6D,synonymous_variant,p.%3D,ENST00000355997,;SEMA6D,synonymous_variant,p.%3D,ENST00000536845,;SEMA6D,synonymous_variant,p.%3D,ENST00000389433,;SEMA6D,synonymous_variant,p.%3D,ENST00000558014,;SEMA6D,synonymous_variant,p.%3D,ENST00000558816,;SEMA6D,synonymous_variant,p.%3D,ENST00000316364,;SEMA6D,downstream_gene_variant,,ENST00000389425,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,;	2095	101	82	SUCCESS
FBN1	2200	.	GRCh37	15	48756135	48756135	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	71	0	ENST00000316623.5:c.5026C>A	p.Pro1676Thr	p.P1676T	ENST00000316623	NM_000138.4	1676	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS32232.1	5026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGAGGAC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000325527	.	41/66	.	.	.	.	.	.	.	.	.	41/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Pro1676Thr,ENST00000316623,;FBN1,missense_variant,p.Pro112Thr,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;	5482	71	56	SUCCESS
FAM227B	196951	.	GRCh37	15	49867301	49867301	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	108	310	0	ENST00000299338.6:c.552A>C	p.Arg184Ser	p.R184S	ENST00000299338	NM_152647.2	184	agA/agC	0	.	.	.	.	.	G	R/S	protein_coding	YES	CCDS32237.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTCTTTC	NONE	.	.	Pfam_domain:PF14922	.	.	ENSP00000299338	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000299338	Transcript	.	.	ENSG00000166262	26543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.14)	.	F227B_HUMAN	FAM227B	HGNC	H0YLX5_HUMAN	.	UPI0000D6133A	SNV	FAM227B,missense_variant,p.Arg184Ser,ENST00000561064,;FAM227B,missense_variant,p.Arg184Ser,ENST00000299338,;FAM227B,downstream_gene_variant,,ENST00000559905,;FAM227B,downstream_gene_variant,,ENST00000558579,;FAM227B,downstream_gene_variant,,ENST00000558594,;FAM227B,downstream_gene_variant,,ENST00000560246,;FAM227B,non_coding_transcript_exon_variant,,ENST00000561319,;FAM227B,non_coding_transcript_exon_variant,,ENST00000558615,;FAM227B,downstream_gene_variant,,ENST00000561116,;	856	310	254	SUCCESS
AP4E1	23431	.	GRCh37	15	51289653	51289653	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	71	0	ENST00000261842.5:c.2477A>G	p.Tyr826Cys	p.Y826C	ENST00000261842	NM_001252127.1	826	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS32240.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATATGAAG	NONE	.	.	hmmpanther:PTHR22780:SF13,hmmpanther:PTHR22780,PIRSF_domain:PIRSF037097	.	.	ENSP00000261842	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000261842	Transcript	1	.	ENSG00000081014	573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.18)	.	AP4E1_HUMAN	AP4E1	HGNC	.	.	UPI00001D89D8	SNV	AP4E1,missense_variant,p.Tyr826Cys,ENST00000261842,;AP4E1,missense_variant,p.Tyr751Cys,ENST00000560508,;AP4E1,upstream_gene_variant,,ENST00000561397,;AP4E1,3_prime_UTR_variant,,ENST00000558439,;AP4E1,3_prime_UTR_variant,,ENST00000561393,;	2583	71	84	SUCCESS
FAM214A	56204	.	GRCh37	15	52879347	52879347	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	102	0	ENST00000261844.7:c.2877+1G>A		p.X959_splice	ENST00000261844	NM_019600.2	959		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45263.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACCACTT	NONE	.	.	.	.	.	ENSP00000261844	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261844	Transcript	.	.	ENSG00000047346	25609	.	.	HIGH	11/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F214A_HUMAN	FAM214A	HGNC	Q6DKH7_HUMAN,Q658Z0_HUMAN,H3BUJ2_HUMAN,H3BU00_HUMAN,H3BTD0_HUMAN,H3BSJ2_HUMAN,H3BQ29_HUMAN,H0Y3Q9_HUMAN	.	UPI00001C1F8D	SNV	FAM214A,splice_donor_variant,,ENST00000546305,;FAM214A,splice_donor_variant,,ENST00000261844,;FAM214A,splice_donor_variant,,ENST00000399202,;FAM214A,intron_variant,,ENST00000568637,;RP11-23N2.4,non_coding_transcript_exon_variant,,ENST00000566344,;RP11-23N2.4,intron_variant,,ENST00000562062,;FAM214A,splice_donor_variant,,ENST00000570204,;FAM214A,missense_variant,p.Val960Ile,ENST00000534964,;FAM214A,non_coding_transcript_exon_variant,,ENST00000566948,;FAM214A,upstream_gene_variant,,ENST00000568871,;	.	102	60	SUCCESS
RNF111	54778	.	GRCh37	15	59373264	59373264	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	82	188	0	ENST00000557998.1:c.2078A>G	p.His693Arg	p.H693R	ENST00000557998	NM_001270530.1	693	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS58365.1	2078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCATTCTC	NONE	.	.	hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF1	.	.	ENSP00000453872	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000559209	Transcript	.	.	ENSG00000157450	17384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious_low_confidence(0)	.	RN111_HUMAN	RNF111	HGNC	H0YKS2_HUMAN	.	UPI0000EE4EBD	SNV	RNF111,missense_variant,p.His693Arg,ENST00000434298,;RNF111,missense_variant,p.His693Arg,ENST00000561186,;RNF111,missense_variant,p.His693Arg,ENST00000557998,;RNF111,missense_variant,p.His693Arg,ENST00000348370,;RNF111,missense_variant,p.His693Arg,ENST00000559209,;RNF111,non_coding_transcript_exon_variant,,ENST00000558977,;RNF111,upstream_gene_variant,,ENST00000559077,;RNF111,upstream_gene_variant,,ENST00000560216,;RNF111,upstream_gene_variant,,ENST00000560952,;	2214	188	182	SUCCESS
VPS13C	54832	.	GRCh37	15	62223325	62223325	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	88	0	ENST00000261517.5:c.6002A>C	p.Asp2001Ala	p.D2001A	ENST00000261517	NM_020821.2	2001	gAt/gCt	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS32257.1	6002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCATCAAGG	NONE	.	.	hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	.	.	ENSP00000261517	.	50/85	.	.	.	.	.	.	.	.	.	50/85	PASS	ENST00000261517	Transcript	.	.	ENSG00000129003	23594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	VP13C_HUMAN	VPS13C	HGNC	B4E2S9_HUMAN,B3KW10_HUMAN	.	UPI000023B7D3	SNV	VPS13C,missense_variant,p.Asp2001Ala,ENST00000261517,;VPS13C,missense_variant,p.Asp2001Ala,ENST00000395896,;VPS13C,missense_variant,p.Asp1958Ala,ENST00000249837,;VPS13C,missense_variant,p.Asp1958Ala,ENST00000395898,;	6076	88	83	SUCCESS
TLN2	83660	.	GRCh37	15	63102125	63102125	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	42	113	0	ENST00000306829.6:c.6665A>C	p.Gln2222Pro	p.Q2222P	ENST00000306829	NM_015059.2	2222	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS32261.1	6665	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCAAGCAT	NONE	.	.	hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	51/58	.	.	.	.	.	.	.	.	.	51/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.16)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Gln1136Pro,ENST00000494733,;TLN2,missense_variant,p.Gln2222Pro,ENST00000561311,;TLN2,missense_variant,p.Gln2222Pro,ENST00000306829,;TLN2,splice_region_variant,,ENST00000489129,;	6895	113	81	SUCCESS
CA12	771	.	GRCh37	15	63673907	63673907	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	29	0	ENST00000178638.3:c.13A>C	p.Ser5Arg	p.S5R	ENST00000178638	NM_001218.3	5	Agc/Cgc	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS10185.1	13	MUTECT|MUSE	.	CAGGCTGCGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18952:SF19,hmmpanther:PTHR18952	.	.	ENSP00000178638	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000178638	Transcript	1	.	ENSG00000074410	1371	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	deleterious_low_confidence(0.01)	.	CAH12_HUMAN	CA12	HGNC	.	.	UPI0000035CDD	SNV	CA12,missense_variant,p.Ser5Arg,ENST00000344366,;CA12,missense_variant,p.Ser5Arg,ENST00000422263,;CA12,missense_variant,p.Ser5Arg,ENST00000178638,;CA12,upstream_gene_variant,,ENST00000560293,;	454	29	26	SUCCESS
MEGF11	84465	.	GRCh37	15	66222097	66222097	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	32	96	0	ENST00000409699.2:c.1533T>A	p.Thr511=	p.T511=	ENST00000409699		511	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10213.2	1533	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGAGTGCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF10,hmmpanther:PTHR24035,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00180,SMART_domains:SM00181	.	.	ENSP00000386908	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000409699	Transcript	.	.	ENSG00000157890	29635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEG11_HUMAN	MEGF11	HGNC	C9JYE7_HUMAN	.	UPI00001FE6DA	SNV	MEGF11,synonymous_variant,p.%3D,ENST00000455812,;MEGF11,synonymous_variant,p.%3D,ENST00000409699,;MEGF11,synonymous_variant,p.%3D,ENST00000360698,;MEGF11,synonymous_variant,p.%3D,ENST00000395625,;MEGF11,synonymous_variant,p.%3D,ENST00000422354,;MEGF11,synonymous_variant,p.%3D,ENST00000288745,;MEGF11,5_prime_UTR_variant,,ENST00000395614,;MEGF11,synonymous_variant,p.%3D,ENST00000490495,;	1706	96	87	SUCCESS
RPL4	6124	.	GRCh37	15	66795504	66795504	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	43	106	0	ENST00000307961.6:c.176-2A>T		p.X59_splice	ENST00000307961	NM_000968.3	59		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10218.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTAAAAT	NONE	.	.	.	.	.	ENSP00000311430	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307961	Transcript	.	.	ENSG00000174444	10353	.	.	HIGH	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL4_HUMAN	RPL4	HGNC	H3BM89_HUMAN	.	UPI00001340F1	SNV	RPL4,splice_acceptor_variant,,ENST00000568588,;RPL4,splice_acceptor_variant,,ENST00000569438,;RPL4,splice_acceptor_variant,,ENST00000307961,;RPL4,splice_acceptor_variant,,ENST00000569696,;ZWILCH,upstream_gene_variant,,ENST00000307897,;ZWILCH,upstream_gene_variant,,ENST00000565627,;ZWILCH,upstream_gene_variant,,ENST00000564179,;ZWILCH,upstream_gene_variant,,ENST00000535141,;ZWILCH,upstream_gene_variant,,ENST00000446801,;SNORD16,upstream_gene_variant,,ENST00000362803,;SNORD18A,downstream_gene_variant,,ENST00000363753,;SNORD18C,upstream_gene_variant,,ENST00000362704,;SNORD18B,upstream_gene_variant,,ENST00000365659,;RPL4,upstream_gene_variant,,ENST00000563473,;RPL4,upstream_gene_variant,,ENST00000565723,;ZWILCH,upstream_gene_variant,,ENST00000565960,;RPL4,downstream_gene_variant,,ENST00000564517,;ZWILCH,upstream_gene_variant,,ENST00000564309,;RPL4,splice_acceptor_variant,,ENST00000567229,;RPL4,splice_acceptor_variant,,ENST00000566624,;RPL4,splice_acceptor_variant,,ENST00000566622,;RPL4,splice_acceptor_variant,,ENST00000566039,;RPL4,splice_acceptor_variant,,ENST00000564439,;RPL4,non_coding_transcript_exon_variant,,ENST00000561554,;RPL4,non_coding_transcript_exon_variant,,ENST00000566491,;RPL4,intron_variant,,ENST00000561775,;ZWILCH,upstream_gene_variant,,ENST00000563698,;RPL4,upstream_gene_variant,,ENST00000564744,;ZWILCH,upstream_gene_variant,,ENST00000567926,;RPL4,upstream_gene_variant,,ENST00000564647,;	.	106	111	SUCCESS
ITGA11	22801	.	GRCh37	15	68624266	68624266	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	51	96	0	ENST00000315757.7:c.1701G>A	p.Glu567=	p.E567=	ENST00000315757	NM_001004439.1	567	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS45291.1	1701	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCTCCAG	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF21,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	.	.	ENSP00000327290	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000315757	Transcript	.	.	ENSG00000137809	6136	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA11_HUMAN	ITGA11	HGNC	.	.	UPI00001FE74D	SNV	ITGA11,synonymous_variant,p.%3D,ENST00000315757,;ITGA11,synonymous_variant,p.%3D,ENST00000423218,;ITGA11,downstream_gene_variant,,ENST00000566429,;ITGA11,non_coding_transcript_exon_variant,,ENST00000569346,;	1788	96	95	SUCCESS
ITGA11	22801	.	GRCh37	15	68624312	68624312	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs771309960	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	48	114	0	ENST00000315757.7:c.1655T>A	p.Leu552His	p.L552H	ENST00000315757	NM_001004439.1	552	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS45291.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGAGGTCT	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF21,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	.	.	ENSP00000327290	.	14/30	.	.	.	.	.	.	.	.	rs771309960	14/30	PASS	ENST00000315757	Transcript	.	.	ENSG00000137809	6136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	ITA11_HUMAN	ITGA11	HGNC	.	.	UPI00001FE74D	SNV	ITGA11,missense_variant,p.Leu552His,ENST00000315757,;ITGA11,missense_variant,p.Leu552His,ENST00000423218,;ITGA11,non_coding_transcript_exon_variant,,ENST00000566429,;ITGA11,non_coding_transcript_exon_variant,,ENST00000569346,;	1742	114	116	SUCCESS
CORO2B	10391	.	GRCh37	15	69006317	69006317	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	86	0	ENST00000566799.1:c.702G>T	p.Met234Ile	p.M234I	ENST00000566799		234	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS10229.2	702	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATGAAGCG	NONE	.	.	hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF17,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000454783	.	6/12	.	.	.	.	.	.	.	.	COSM555890	6/12	PASS	ENST00000566799	Transcript	.	.	ENSG00000103647	2256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.36)	1	COR2B_HUMAN	CORO2B	HGNC	B3KWB4_HUMAN	.	UPI0000E59C95	SNV	CORO2B,missense_variant,p.Met234Ile,ENST00000566799,;CORO2B,missense_variant,p.Met229Ile,ENST00000540068,;CORO2B,missense_variant,p.Met229Ile,ENST00000261861,;CORO2B,missense_variant,p.Met229Ile,ENST00000543950,;	731	86	58	SUCCESS
UACA	55075	.	GRCh37	15	70959793	70959793	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs374484868	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	25	73	1	ENST00000322954.6:c.3230A>G	p.Gln1077Arg	p.Q1077R	ENST00000322954	NM_018003.2	1077	cAg/cGg	0	C:0.0005	.	.	.	.	C	Q/R	protein_coding	YES	CCDS10235.1	3230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTGTGAC	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1	.	C:0	ENSP00000314556	.	16/19	.	.	.	.	.	.	.	.	rs374484868	16/19	PASS	ENST00000322954	Transcript	.	.	ENSG00000137831	15947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.15)	.	UACA_HUMAN	UACA	HGNC	.	.	UPI000006DCF3	SNV	UACA,missense_variant,p.Gln1064Arg,ENST00000379983,;UACA,missense_variant,p.Gln968Arg,ENST00000539319,;UACA,missense_variant,p.Gln1077Arg,ENST00000322954,;UACA,missense_variant,p.Gln1062Arg,ENST00000560441,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000558308,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;	3416	74	49	SUCCESS
LRRC49	54839	.	GRCh37	15	71185135	71185135	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs574821667	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	36	0	ENST00000260382.5:c.-99A>C		p.*33*	ENST00000260382	NM_001199017.1			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS58376.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCAGGTTG	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000453273	C:0	1/16	.	.	.	.	.	.	.	.	rs574821667	1/16	PASS	ENST00000560369	Transcript	.	C:0.0004	ENSG00000137821	25965	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0.002	.	.	LRC49_HUMAN	LRRC49	HGNC	H0YNV5_HUMAN,H0YNI5_HUMAN,H0YLQ8_HUMAN,H0YKI5_HUMAN,H0YKE9_HUMAN	.	UPI0001E92A32	SNV	LRRC49,5_prime_UTR_variant,,ENST00000560369,;LRRC49,5_prime_UTR_variant,,ENST00000260382,;LRRC49,intron_variant,,ENST00000558546,;LRRC49,intron_variant,,ENST00000544974,;THAP10,upstream_gene_variant,,ENST00000560604,;THAP10,upstream_gene_variant,,ENST00000249861,;LRRC49,upstream_gene_variant,,ENST00000443425,;LRRC49,upstream_gene_variant,,ENST00000557977,;LRRC49,upstream_gene_variant,,ENST00000560691,;LRRC49,upstream_gene_variant,,ENST00000560755,;LRRC49,intron_variant,,ENST00000558799,;LRRC49,upstream_gene_variant,,ENST00000436542,;LRRC49,5_prime_UTR_variant,,ENST00000560107,;LRRC49,5_prime_UTR_variant,,ENST00000561081,;LRRC49,5_prime_UTR_variant,,ENST00000559670,;LRRC49,5_prime_UTR_variant,,ENST00000559201,;LRRC49,upstream_gene_variant,,ENST00000560980,;LRRC49,upstream_gene_variant,,ENST00000558271,;LRRC49,upstream_gene_variant,,ENST00000558204,;LRRC49,upstream_gene_variant,,ENST00000558032,;	171	36	41	SUCCESS
GRAMD2	0	.	GRCh37	15	72455799	72455799	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	82	0	ENST00000309731.7:c.764T>C	p.Val255Ala	p.V255A	ENST00000309731	NM_001012642.2	255	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS32283.1	764	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTACTTGG	NONE	.	.	hmmpanther:PTHR23319:SF7,hmmpanther:PTHR23319	.	.	ENSP00000311657	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000309731	Transcript	.	.	ENSG00000175318	27287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.51)	.	GRAM2_HUMAN	GRAMD2	HGNC	B4E188_HUMAN	.	UPI00001FE7DE	SNV	GRAMD2,missense_variant,p.Val255Ala,ENST00000309731,;GRAMD2,downstream_gene_variant,,ENST00000564129,;GRAMD2,downstream_gene_variant,,ENST00000570275,;GRAMD2,downstream_gene_variant,,ENST00000568594,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564184,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000565233,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567662,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567029,;GRAMD2,intron_variant,,ENST00000564773,;GRAMD2,downstream_gene_variant,,ENST00000567637,;GRAMD2,downstream_gene_variant,,ENST00000562288,;	778	82	77	SUCCESS
NEO1	4756	.	GRCh37	15	73541516	73541516	+	synonymous_variant	Silent	SNP	G	G	A	rs777630232	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	70	0	ENST00000261908.6:c.1722G>A	p.Leu574=	p.L574=	ENST00000261908	NM_002499.3	574	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10247.1	1722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGTACTA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000341198	.	11/30	.	.	.	.	.	.	.	.	rs777630232	11/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,synonymous_variant,p.%3D,ENST00000261908,;NEO1,synonymous_variant,p.%3D,ENST00000558964,;NEO1,synonymous_variant,p.%3D,ENST00000339362,;NEO1,synonymous_variant,p.%3D,ENST00000560328,;NEO1,synonymous_variant,p.%3D,ENST00000560262,;NEO1,non_coding_transcript_exon_variant,,ENST00000560352,;NEO1,downstream_gene_variant,,ENST00000560407,;	2169	70	50	SUCCESS
HCN4	10021	.	GRCh37	15	73614832	73614832	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	61	162	0	ENST00000261917.3:c.3602C>A	p.Ser1201Tyr	p.S1201Y	ENST00000261917	NM_005477.2	1201	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS10248.1	3602	RADIA|MUTECT|MUSE	.	GATTGGATGGC	NONE	.	.	.	.	.	ENSP00000261917	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.974)	.	deleterious_low_confidence(0)	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,missense_variant,p.Ser1201Tyr,ENST00000261917,;	4596	162	137	SUCCESS
CD276	80381	.	GRCh37	15	73994758	73994758	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	63	0	ENST00000318443.5:c.242A>G	p.Glu81Gly	p.E81G	ENST00000318443	NM_001024736.1	81	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS32288.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGAGGGCC	NONE	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000320084	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000318443	Transcript	.	.	ENSG00000103855	19137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.39)	.	CD276_HUMAN	CD276	HGNC	H0YN85_HUMAN,H0YLT8_HUMAN,H0YKQ9_HUMAN,H0YK59_HUMAN,H0YK40_HUMAN	.	UPI0000034C25	SNV	CD276,missense_variant,p.Glu81Gly,ENST00000564751,;CD276,missense_variant,p.Glu120Gly,ENST00000563584,;CD276,missense_variant,p.Glu81Gly,ENST00000561260,;CD276,missense_variant,p.Glu81Gly,ENST00000318443,;CD276,missense_variant,p.Glu81Gly,ENST00000567189,;CD276,missense_variant,p.Glu81Gly,ENST00000561213,;CD276,missense_variant,p.Glu81Gly,ENST00000560995,;CD276,missense_variant,p.Glu81Gly,ENST00000318424,;CD276,missense_variant,p.Glu81Gly,ENST00000560786,;CD276,missense_variant,p.Glu81Gly,ENST00000558689,;CD276,5_prime_UTR_variant,,ENST00000537340,;CD276,upstream_gene_variant,,ENST00000561176,;CD276,downstream_gene_variant,,ENST00000561416,;CD276,stop_lost,p.Ter39TrpextTer92,ENST00000560928,;CD276,stop_lost,p.Ter39TrpextTer92,ENST00000567582,;CD276,upstream_gene_variant,,ENST00000559073,;CD276,upstream_gene_variant,,ENST00000557951,;	544	63	51	SUCCESS
SEMA7A	8482	.	GRCh37	15	74707046	74707046	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	33	76	0	ENST00000261918.4:c.1136A>T	p.Gln379Leu	p.Q379L	ENST00000261918	NM_003612.3	379	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10262.1	1136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGGAAG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000261918	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0.01)	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,missense_variant,p.Gln379Leu,ENST00000261918,;SEMA7A,missense_variant,p.Gln214Leu,ENST00000542748,;SEMA7A,missense_variant,p.Gln365Leu,ENST00000543145,;SEMA7A,downstream_gene_variant,,ENST00000567345,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	1685	76	55	SUCCESS
CYP1A1	1543	.	GRCh37	15	75013936	75013936	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	72	0	ENST00000379727.3:c.948A>G	p.Gly316=	p.G316=	ENST00000379727		316	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS10268.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTCCAAA	NONE	.	.	Prints_domain:PR00463,Superfamily_domains:SSF48264,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24299:SF8,hmmpanther:PTHR24299	.	.	ENSP00000369050	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000379727	Transcript	.	.	ENSG00000140465	2595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP1A1_HUMAN	CYP1A1	HGNC	A4F4K4_HUMAN,A4F3V8_HUMAN,A0N0X8_HUMAN	.	UPI0000128195	SNV	CYP1A1,synonymous_variant,p.%3D,ENST00000564596,;CYP1A1,synonymous_variant,p.%3D,ENST00000567032,;CYP1A1,synonymous_variant,p.%3D,ENST00000566503,;CYP1A1,synonymous_variant,p.%3D,ENST00000379727,;CYP1A1,synonymous_variant,p.%3D,ENST00000395049,;CYP1A1,synonymous_variant,p.%3D,ENST00000395048,;CYP1A1,3_prime_UTR_variant,,ENST00000562201,;CYP1A1,3_prime_UTR_variant,,ENST00000569630,;	1147	72	58	SUCCESS
LMAN1L	79748	.	GRCh37	15	75111520	75111520	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	65	0	ENST00000309664.5:c.625A>T	p.Ser209Cys	p.S209C	ENST00000309664	NM_021819.2	209	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS10270.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGTGAT	NONE	.	.	Superfamily_domains:SSF49899,Pfam_domain:PF03388,Gene3D:2.60.120.200,hmmpanther:PTHR12223:SF27,hmmpanther:PTHR12223,PROSITE_profiles:PS51328	.	.	ENSP00000310431	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000309664	Transcript	.	.	ENSG00000140506	6632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	deleterious(0.01)	.	LMA1L_HUMAN	LMAN1L	HGNC	.	.	UPI00001AEF1F	SNV	LMAN1L,missense_variant,p.Ser209Cys,ENST00000379709,;LMAN1L,missense_variant,p.Ser209Cys,ENST00000309664,;LMAN1L,downstream_gene_variant,,ENST00000562810,;LMAN1L,upstream_gene_variant,,ENST00000567848,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000456603,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000470711,;LMAN1L,downstream_gene_variant,,ENST00000570147,;LMAN1L,downstream_gene_variant,,ENST00000568467,;LMAN1L,upstream_gene_variant,,ENST00000565585,;RP11-414J4.2,upstream_gene_variant,,ENST00000564823,;	764	65	52	SUCCESS
C15orf39	56905	.	GRCh37	15	75499850	75499850	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	62	0	ENST00000360639.2:c.1461A>T	p.Pro487=	p.P487=	ENST00000360639		487	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS10276.1	1461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCACAGAA	NONE	.	.	.	.	.	ENSP00000353854	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000360639	Transcript	.	.	ENSG00000167173	24497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO039_HUMAN	C15orf39	HGNC	H3BT66_HUMAN,H3BRS2_HUMAN,H3BN41_HUMAN	.	UPI000004F079	SNV	C15orf39,synonymous_variant,p.%3D,ENST00000360639,;C15orf39,synonymous_variant,p.%3D,ENST00000394987,;C15orf39,synonymous_variant,p.%3D,ENST00000567617,;C15orf39,synonymous_variant,p.%3D,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;C15orf39,downstream_gene_variant,,ENST00000563905,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	1781	62	41	SUCCESS
UBE2Q2	92912	.	GRCh37	15	76152229	76152229	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	34	94	0	ENST00000267938.4:c.293A>T	p.Gln98Leu	p.Q98L	ENST00000267938	NM_173469.2	98	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10286.1	293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAATTGA	NONE	.	.	hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF35,Superfamily_domains:SSF54495	.	.	ENSP00000267938	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000267938	Transcript	.	.	ENSG00000140367	19248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	deleterious(0)	.	UB2Q2_HUMAN	UBE2Q2	HGNC	B4DFQ2_HUMAN	.	UPI0000073AF9	SNV	UBE2Q2,missense_variant,p.Gln98Leu,ENST00000267938,;UBE2Q2,missense_variant,p.Gln98Leu,ENST00000338677,;UBE2Q2,missense_variant,p.Gln82Leu,ENST00000561851,;UBE2Q2,intron_variant,,ENST00000569423,;UBE2Q2,upstream_gene_variant,,ENST00000426727,;UBE2Q2,downstream_gene_variant,,ENST00000562635,;UBE2Q2,intron_variant,,ENST00000561723,;	675	94	69	SUCCESS
UBE2Q2	92912	.	GRCh37	15	76183352	76183352	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	98	0	ENST00000267938.4:c.1026T>C	p.Asn342=	p.N342=	ENST00000267938	NM_173469.2	342	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS10286.1	1026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAATAAGGT	NONE	.	.	hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF35,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000267938	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000267938	Transcript	.	.	ENSG00000140367	19248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2Q2_HUMAN	UBE2Q2	HGNC	B4DFQ2_HUMAN	.	UPI0000073AF9	SNV	UBE2Q2,synonymous_variant,p.%3D,ENST00000561851,;UBE2Q2,synonymous_variant,p.%3D,ENST00000569423,;UBE2Q2,synonymous_variant,p.%3D,ENST00000267938,;UBE2Q2,intron_variant,,ENST00000426727,;UBE2Q2,intron_variant,,ENST00000338677,;RN7SL510P,upstream_gene_variant,,ENST00000581311,;UBE2Q2,non_coding_transcript_exon_variant,,ENST00000563966,;UBE2Q2,intron_variant,,ENST00000567921,;UBE2Q2,intron_variant,,ENST00000561723,;	1408	98	77	SUCCESS
SCAPER	49855	.	GRCh37	15	77021006	77021006	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	93	0	ENST00000324767.7:c.2095G>C	p.Glu699Gln	p.E699Q	ENST00000324767	NM_020843.2	699	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS53962.1	2095	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCTTGTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2	.	.	ENSP00000454973	.	17/32	.	.	.	.	.	.	.	.	.	17/32	PASS	ENST00000563290	Transcript	.	.	ENSG00000140386	13081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.07)	.	SCAPE_HUMAN	SCAPER	HGNC	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN	.	UPI0000E59CC3	SNV	SCAPER,missense_variant,p.Glu699Gln,ENST00000324767,;SCAPER,missense_variant,p.Glu453Gln,ENST00000538941,;SCAPER,missense_variant,p.Glu699Gln,ENST00000563290,;SCAPER,missense_variant,p.Glu705Gln,ENST00000564590,;SCAPER,missense_variant,p.Glu705Gln,ENST00000565970,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	2191	93	72	SUCCESS
RASGRF1	5923	.	GRCh37	15	79277299	79277299	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	45	0	ENST00000419573.3:c.3462+50T>A		p.*1154*	ENST00000419573	NM_002891.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTAGCCCC	NONE	.	.	.	.	.	ENSP00000405963	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODIFIER	24/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,intron_variant,,ENST00000558480,;RASGRF1,intron_variant,,ENST00000419573,;RASGRF1,intron_variant,,ENST00000394745,;RP11-16K12.1,non_coding_transcript_exon_variant,,ENST00000316148,;RASGRF1,intron_variant,,ENST00000560334,;RASGRF1,intron_variant,,ENST00000560286,;RASGRF1,intron_variant,,ENST00000560943,;	.	45	40	SUCCESS
KIAA1024	0	.	GRCh37	15	79748489	79748489	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	55	0	ENST00000305428.3:c.-1C>A		p.*1*	ENST00000305428	NM_015206.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32306.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATCATGGA	NONE	.	.	.	.	.	ENSP00000307461	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,5_prime_UTR_variant,,ENST00000305428,;KIAA1024,5_prime_UTR_variant,,ENST00000559272,;	75	55	46	SUCCESS
KIAA1024	0	.	GRCh37	15	79749742	79749742	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	85	199	0	ENST00000305428.3:c.1253A>G	p.Lys418Arg	p.K418R	ENST00000305428	NM_015206.2	418	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS32306.1	1253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAAGGATC	NONE	.	.	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2	.	.	ENSP00000307461	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000305428	Transcript	.	.	ENSG00000169330	29172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.08)	.	K1024_HUMAN	KIAA1024	HGNC	.	.	UPI00001B2F56	SNV	KIAA1024,missense_variant,p.Lys418Arg,ENST00000305428,;KIAA1024,missense_variant,p.Lys418Arg,ENST00000559272,;	1328	199	181	SUCCESS
MEX3B	84206	.	GRCh37	15	82336831	82336831	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	33	0	ENST00000329713.4:c.380T>C	p.Ile127Thr	p.I127T	ENST00000329713	NM_032246.4	127	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS10319.1	380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGATCTCC	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000329918	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329713	Transcript	.	.	ENSG00000183496	25297	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.03)	.	MEX3B_HUMAN	MEX3B	HGNC	.	.	UPI00001982CC	SNV	MEX3B,missense_variant,p.Ile127Thr,ENST00000329713,;MEX3B,3_prime_UTR_variant,,ENST00000558133,;AC026956.1,downstream_gene_variant,,ENST00000410589,;	816	33	27	SUCCESS
EFTUD1	0	.	GRCh37	15	82444096	82444096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	79	0	ENST00000268206.7:c.2699G>A	p.Ser900Asn	p.S900N	ENST00000268206	NM_024580.5	900	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS42071.1	2699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTACTTAGG	NONE	.	.	Superfamily_domains:SSF54211,Gene3D:3.30.230.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF3	.	.	ENSP00000268206	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000268206	Transcript	.	.	ENSG00000140598	25789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.28)	.	ETUD1_HUMAN	EFTUD1	HGNC	H0YNW8_HUMAN	.	UPI00001FEA35	SNV	EFTUD1,missense_variant,p.Ser849Asn,ENST00000359445,;EFTUD1,missense_variant,p.Ser900Asn,ENST00000268206,;EFTUD1,downstream_gene_variant,,ENST00000561340,;	2868	79	94	SUCCESS
BTBD1	53339	.	GRCh37	15	83718868	83718868	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	27	73	0	ENST00000261721.4:c.621A>G	p.Thr207=	p.T207=	ENST00000261721	NM_001011885.1	207	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS10322.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATTGTGCT	NONE	.	.	hmmpanther:PTHR24413:SF15,hmmpanther:PTHR24413,Pfam_domain:PF07707,SMART_domains:SM00875	.	.	ENSP00000261721	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000261721	Transcript	.	.	ENSG00000064726	1120	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBD1_HUMAN	BTBD1	HGNC	B7Z572_HUMAN	.	UPI00000012BE	SNV	BTBD1,synonymous_variant,p.%3D,ENST00000379403,;BTBD1,synonymous_variant,p.%3D,ENST00000261721,;RP11-382A20.6,intron_variant,,ENST00000568441,;RP11-382A20.7,intron_variant,,ENST00000570202,;RP11-382A20.5,intron_variant,,ENST00000566841,;BTBD1,intron_variant,,ENST00000559652,;	824	73	55	SUCCESS
AKAP13	11214	.	GRCh37	15	86286977	86286977	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	14	128	0	ENST00000394518.2:c.8313C>A	p.Thr2771=	p.T2771=	ENST00000394518	NM_007200.4	2771	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS32320.1	8325	RADIA|MUSE|VARSCANS	.	TCTACCCGCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13944:SF4,hmmpanther:PTHR13944	.	.	ENSP00000354718	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000361243	Transcript	.	.	ENSG00000170776	371	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AKP13_HUMAN	AKAP13	HGNC	H0YMI5_HUMAN,A8MYJ1_HUMAN	.	UPI00001A8BEB	SNV	AKAP13,synonymous_variant,p.%3D,ENST00000394518,;AKAP13,synonymous_variant,p.%3D,ENST00000361243,;AKAP13,synonymous_variant,p.%3D,ENST00000394510,;RP11-158M2.3,downstream_gene_variant,,ENST00000558375,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560579,;AKAP13,upstream_gene_variant,,ENST00000560185,;AKAP13,downstream_gene_variant,,ENST00000559391,;	8406	128	95	SUCCESS
AGBL1	123624	.	GRCh37	15	86702252	86702252	+	synonymous_variant	Silent	SNP	A	A	C	rs765414052	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	38	79	0	ENST00000441037.2:c.345A>C	p.Ala115=	p.A115=	ENST00000441037	NM_152336.2	115	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS58398.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCAATCAG	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000413001	.	4/24	.	.	.	.	.	.	.	.	rs765414052	4/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;	440	79	75	SUCCESS
AGBL1	123624	.	GRCh37	15	86823010	86823010	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	100	0	ENST00000441037.2:c.2078T>A	p.Leu693His	p.L693H	ENST00000441037	NM_152336.2	693	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS58398.1	2078	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTCATGG	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	.	ENSP00000413001	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,missense_variant,p.Leu424His,ENST00000389298,;AGBL1,missense_variant,p.Leu693His,ENST00000441037,;AGBL1,missense_variant,p.Leu693His,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	2173	100	104	SUCCESS
AGBL1	123624	.	GRCh37	15	87097675	87097675	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	71	0	ENST00000441037.2:c.2763C>A	p.Ser921=	p.S921=	ENST00000441037	NM_152336.2	921	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS58398.1	2763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCACGGC	NONE	.	.	hmmpanther:PTHR12756:SF5,hmmpanther:PTHR12756,Pfam_domain:PF00246,Superfamily_domains:SSF53187	.	.	ENSP00000413001	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000441037	Transcript	1	.	ENSG00000166748	26504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC4_HUMAN	AGBL1	HGNC	J3KQF5_HUMAN	.	UPI0000EC9CE0	SNV	AGBL1,synonymous_variant,p.%3D,ENST00000389298,;AGBL1,synonymous_variant,p.%3D,ENST00000441037,;AGBL1,synonymous_variant,p.%3D,ENST00000421325,;	2858	71	58	SUCCESS
ACAN	176	.	GRCh37	15	89388804	89388804	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	31	86	0	ENST00000439576.2:c.1120A>G	p.Thr374Ala	p.T374A	ENST00000439576	NM_013227.3	374	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS53970.1	1120	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGACAGTG	NONE	.	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	.	.	ENSP00000387356	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000439576	Transcript	1	.	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Thr374Ala,ENST00000559004,;ACAN,missense_variant,p.Thr374Ala,ENST00000439576,;ACAN,missense_variant,p.Thr374Ala,ENST00000558207,;ACAN,missense_variant,p.Thr374Ala,ENST00000561243,;ACAN,missense_variant,p.Thr374Ala,ENST00000352105,;	1494	86	68	SUCCESS
ABHD2	11057	.	GRCh37	15	89694906	89694906	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	29	76	0	ENST00000352732.5:c.195-2A>G		p.X65_splice	ENST00000352732	NM_152924.4	65		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10348.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTAGATAC	NONE	.	.	.	.	.	ENSP00000268129	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000352732	Transcript	.	.	ENSG00000140526	18717	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHD2_HUMAN	ABHD2	HGNC	H3BUZ6_HUMAN,H3BN19_HUMAN,H3BMT2_HUMAN	.	UPI000012E24E	SNV	ABHD2,splice_acceptor_variant,,ENST00000352732,;ABHD2,splice_acceptor_variant,,ENST00000565066,;ABHD2,splice_acceptor_variant,,ENST00000565973,;ABHD2,splice_acceptor_variant,,ENST00000569411,;ABHD2,splice_acceptor_variant,,ENST00000355100,;ABHD2,splice_acceptor_variant,,ENST00000562073,;	.	76	57	SUCCESS
WDR93	56964	.	GRCh37	15	90246187	90246187	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	95	0	ENST00000268130.7:c.310A>C	p.Lys104Gln	p.K104Q	ENST00000268130	NM_020212.1	104	Aaa/Caa	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS32326.1	310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACAAAATG	NONE	.	.	Superfamily_domains:SSF50978,hmmpanther:PTHR12219,hmmpanther:PTHR12219:SF14	.	.	ENSP00000268130	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000268130	Transcript	.	.	ENSG00000140527	26924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.34)	.	WDR93_HUMAN	WDR93	HGNC	H0YL01_HUMAN,B4DXL7_HUMAN	.	UPI00001D77A7	SNV	WDR93,missense_variant,p.Lys104Gln,ENST00000558000,;WDR93,missense_variant,p.Lys104Gln,ENST00000560294,;WDR93,missense_variant,p.Lys104Gln,ENST00000268130,;RP11-300G22.2,upstream_gene_variant,,ENST00000557964,;	411	95	81	SUCCESS
AC068831.10	0	.	GRCh37	15	91578391	91578391	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	9	0	ENST00000557804.1:n.709A>C		p.*237*	ENST00000557804				0	.	.	.	.	.	C	.	antisense	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCACGTCC	NONE	.	.	.	.	.	.	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000557804	Transcript	.	.	ENSG00000214432	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC068831.10	Clone_based_vega_gene	.	.	.	SNV	AC068831.10,non_coding_transcript_exon_variant,,ENST00000557804,;AC068831.10,downstream_gene_variant,,ENST00000556904,;AC068831.10,downstream_gene_variant,,ENST00000501381,;AC068831.12,upstream_gene_variant,,ENST00000557387,;	709	9	17	SUCCESS
MCTP2	55784	.	GRCh37	15	94913364	94913364	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	107	0	ENST00000357742.4:c.1537G>A	p.Val513Met	p.V513M	ENST00000357742	NM_018349.3	513	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS32338.1	1537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAGTGAAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50004,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000350377	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Val101Met,ENST00000557742,;MCTP2,missense_variant,p.Val101Met,ENST00000331706,;MCTP2,missense_variant,p.Val513Met,ENST00000357742,;MCTP2,missense_variant,p.Val513Met,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;	1537	107	98	SUCCESS
IGF1R	3480	.	GRCh37	15	99478555	99478555	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	80	0	ENST00000268035.6:c.3197T>A	p.Leu1066Gln	p.L1066Q	ENST00000268035	NM_000875.3	1066	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS10378.1	3197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTGGGTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,PIRSF_domain:PIRSF000620,Pfam_domain:PF07714,Gene3D:3.30.200.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000268035	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,missense_variant,p.Leu1065Gln,ENST00000558762,;IGF1R,missense_variant,p.Leu1066Gln,ENST00000268035,;IGF1R,synonymous_variant,p.%3D,ENST00000560972,;	3808	80	69	SUCCESS
CLEC16A	23274	.	GRCh37	16	11076808	11076808	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1278193295	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	46	0	ENST00000409790.1:c.1031A>T	p.Glu344Val	p.E344V	ENST00000409790	NM_015226.2	344	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS45409.1	1031	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGAGATGT	NONE	.	.	hmmpanther:PTHR21481	.	.	ENSP00000387122	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000409790	Transcript	.	.	ENSG00000038532	29013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	CL16A_HUMAN	CLEC16A	HGNC	.	.	UPI0000253BAD	SNV	CLEC16A,missense_variant,p.Glu344Val,ENST00000409790,;CLEC16A,missense_variant,p.Glu342Val,ENST00000409552,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000494853,;	1261	46	52	SUCCESS
RHBDF1	64285	.	GRCh37	16	114754	114754	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs748621565	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	62	0	ENST00000262316.6:c.191A>G	p.His64Arg	p.H64R	ENST00000262316	NM_022450.3	64	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS32344.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATGGTGG	NONE	.	.	hmmpanther:PTHR22936:SF6,hmmpanther:PTHR22936	.	.	ENSP00000262316	.	3/18	.	.	.	.	.	.	.	.	rs748621565	3/18	PASS	ENST00000262316	Transcript	.	.	ENSG00000007384	20561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.4)	.	RHDF1_HUMAN	RHBDF1	HGNC	A2IDA2_HUMAN	.	UPI00001A5206	SNV	RHBDF1,missense_variant,p.His64Arg,ENST00000262316,;RHBDF1,missense_variant,p.His64Arg,ENST00000454039,;RHBDF1,missense_variant,p.His64Arg,ENST00000450643,;RHBDF1,missense_variant,p.His64Arg,ENST00000419764,;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,missense_variant,p.His64Arg,ENST00000417043,;RHBDF1,missense_variant,p.His64Arg,ENST00000428730,;RHBDF1,non_coding_transcript_exon_variant,,ENST00000487201,;RHBDF1,non_coding_transcript_exon_variant,,ENST00000472390,;RHBDF1,upstream_gene_variant,,ENST00000482904,;RHBDF1,upstream_gene_variant,,ENST00000493647,;RHBDF1,upstream_gene_variant,,ENST00000486045,;	334	62	41	SUCCESS
CACNA1H	8912	.	GRCh37	16	1270071	1270071	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	102	0	ENST00000348261.5:c.6139A>G	p.Arg2047Gly	p.R2047G	ENST00000348261	NM_021098.2	2047	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS45375.1	6139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGAGGCCG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	tolerated(0.35)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.Arg772Gly,ENST00000562079,;CACNA1H,missense_variant,p.Arg2047Gly,ENST00000348261,;CACNA1H,missense_variant,p.Arg778Gly,ENST00000564231,;CACNA1H,missense_variant,p.Arg2041Gly,ENST00000565831,;CACNA1H,missense_variant,p.Arg2041Gly,ENST00000358590,;CACNA1H,missense_variant,p.Arg591Gly,ENST00000564927,;CACNA1H,missense_variant,p.Arg794Gly,ENST00000569107,;TPSG1,downstream_gene_variant,,ENST00000234798,;TPSG1,downstream_gene_variant,,ENST00000564684,;	6387	102	75	SUCCESS
MKL2	0	.	GRCh37	16	14340581	14340581	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	79	0	ENST00000318282.5:c.1464A>T	p.Thr488=	p.T488=	ENST00000318282		488	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32391.1	1464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGGAAC	NONE	.	.	hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793	.	.	ENSP00000339086	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000318282	Transcript	.	.	ENSG00000186260	29819	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKL2_HUMAN	MKL2	HGNC	I3L0U1_HUMAN	.	UPI0000225CCB	SNV	MKL2,synonymous_variant,p.%3D,ENST00000318282,;MKL2,synonymous_variant,p.%3D,ENST00000341243,;MKL2,synonymous_variant,p.%3D,ENST00000571589,;MKL2,synonymous_variant,p.%3D,ENST00000574045,;MKL2,upstream_gene_variant,,ENST00000572588,;	1594	79	64	SUCCESS
MKL2	0	.	GRCh37	16	14341261	14341261	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	30	0	ENST00000318282.5:c.2097+47A>T		p.*699*	ENST00000318282				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32391.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCAGGCTT	NONE	.	.	.	.	.	ENSP00000339086	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318282	Transcript	.	.	ENSG00000186260	29819	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MKL2_HUMAN	MKL2	HGNC	I3L0U1_HUMAN	.	UPI0000225CCB	SNV	MKL2,missense_variant,p.Gln704Leu,ENST00000341243,;MKL2,missense_variant,p.Gln715Leu,ENST00000571589,;MKL2,intron_variant,,ENST00000318282,;MKL2,intron_variant,,ENST00000574045,;MKL2,upstream_gene_variant,,ENST00000572588,;	.	30	25	SUCCESS
TELO2	9894	.	GRCh37	16	1551726	1551726	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	24	0	ENST00000262319.6:c.1424G>A	p.Gly475Asp	p.G475D	ENST00000262319	NM_016111.3	475	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS32363.1	1424	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGGCGGCG	NONE	.	.	hmmpanther:PTHR15830	.	.	ENSP00000262319	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000262319	Transcript	.	.	ENSG00000100726	29099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.67)	.	TELO2_HUMAN	TELO2	HGNC	.	.	UPI000016961D	SNV	TELO2,missense_variant,p.Gly475Asp,ENST00000262319,;TELO2,upstream_gene_variant,,ENST00000567423,;TELO2,non_coding_transcript_exon_variant,,ENST00000564507,;TELO2,upstream_gene_variant,,ENST00000567427,;TELO2,intron_variant,,ENST00000497339,;TELO2,upstream_gene_variant,,ENST00000569744,;TELO2,upstream_gene_variant,,ENST00000568240,;TELO2,upstream_gene_variant,,ENST00000563676,;	1703	24	19	SUCCESS
XYLT1	64131	.	GRCh37	16	17353092	17353092	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	38	82	0	ENST00000261381.6:c.666A>G	p.Arg222=	p.R222=	ENST00000261381	NM_022166.3	222	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS10569.1	666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCTCTGTC	NONE	.	.	hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91	.	.	ENSP00000261381	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000261381	Transcript	.	.	ENSG00000103489	15516	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XYLT1_HUMAN	XYLT1	HGNC	.	.	UPI000000DCCE	SNV	XYLT1,synonymous_variant,p.%3D,ENST00000261381,;XYLT1,upstream_gene_variant,,ENST00000575674,;	751	82	79	SUCCESS
TMC7	79905	.	GRCh37	16	19033071	19033071	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	35	103	0	ENST00000304381.5:c.581A>G	p.Tyr194Cys	p.Y194C	ENST00000304381	NM_024847.3	194	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS10573.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATACAAGA	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF9	.	.	ENSP00000304710	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000304381	Transcript	.	.	ENSG00000170537	23000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.02)	.	TMC7_HUMAN	TMC7	HGNC	E7ERB6_HUMAN	.	UPI00001AEDAD	SNV	TMC7,missense_variant,p.Tyr194Cys,ENST00000569532,;TMC7,missense_variant,p.Tyr84Cys,ENST00000421369,;TMC7,missense_variant,p.Tyr194Cys,ENST00000304381,;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	711	103	99	SUCCESS
GPR139	124274	.	GRCh37	16	20084903	20084903	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	48	125	0	ENST00000570682.1:c.36C>G	p.Ser12Arg	p.S12R	ENST00000570682	NM_001002911.2	12	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS32398.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGAGCTGTT	NONE	.	.	hmmpanther:PTHR22751:SF49,hmmpanther:PTHR22751	.	.	ENSP00000458791	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000570682	Transcript	.	.	ENSG00000180269	19995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.367)	.	deleterious_low_confidence(0.03)	.	GP139_HUMAN	GPR139	HGNC	.	.	UPI000004C566	SNV	GPR139,missense_variant,p.Ser12Arg,ENST00000570682,;GPR139,missense_variant,p.Ser12Arg,ENST00000326571,;	337	125	105	SUCCESS
TBL3	10607	.	GRCh37	16	2026270	2026270	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	81	0	ENST00000568546.1:c.1247A>T	p.Gln416Leu	p.Q416L	ENST00000568546	NM_006453.2	416	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10453.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCAGGGTT	NONE	.	.	SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294	.	.	ENSP00000454836	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000568546	Transcript	.	.	ENSG00000183751	11587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.7)	.	TBL3_HUMAN	TBL3	HGNC	A0JLS5_HUMAN	.	UPI000006F172	SNV	TBL3,missense_variant,p.Gln416Leu,ENST00000568546,;TBL3,intron_variant,,ENST00000332704,;NOXO1,downstream_gene_variant,,ENST00000354249,;NOXO1,downstream_gene_variant,,ENST00000567471,;NOXO1,downstream_gene_variant,,ENST00000566005,;NOXO1,downstream_gene_variant,,ENST00000397280,;NOXO1,downstream_gene_variant,,ENST00000356120,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;TBL3,non_coding_transcript_exon_variant,,ENST00000569792,;TBL3,non_coding_transcript_exon_variant,,ENST00000564171,;TBL3,downstream_gene_variant,,ENST00000561907,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000567615,;NOXO1,downstream_gene_variant,,ENST00000569739,;	1375	81	61	SUCCESS
ZNF598	90850	.	GRCh37	16	2048704	2048704	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	63	0	ENST00000431526.1:c.2360A>T	p.Gln787Leu	p.Q787L	ENST00000431526		787	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	.	2360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTGTCTG	NONE	.	.	hmmpanther:PTHR22938,hmmpanther:PTHR22938:SF0	.	.	ENSP00000411409	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000431526	Transcript	.	.	ENSG00000167962	28079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.757)	.	.	.	ZN598_HUMAN	ZNF598	HGNC	H3BQQ2_HUMAN	.	UPI0001AE67A3	SNV	ZNF598,missense_variant,p.Gln787Leu,ENST00000431526,;ZNF598,missense_variant,p.Gln732Leu,ENST00000562103,;ZNF598,missense_variant,p.Gln732Leu,ENST00000563630,;SYNGR3,downstream_gene_variant,,ENST00000248121,;AC005606.15,downstream_gene_variant,,ENST00000567515,;ZNF598,splice_region_variant,,ENST00000567008,;ZNF598,splice_region_variant,,ENST00000564556,;ZNF598,splice_region_variant,,ENST00000562988,;ZNF598,non_coding_transcript_exon_variant,,ENST00000565396,;ZNF598,downstream_gene_variant,,ENST00000564824,;ZNF598,downstream_gene_variant,,ENST00000561787,;ZNF598,downstream_gene_variant,,ENST00000567625,;	2375	63	59	SUCCESS
ACSM3	6296	.	GRCh37	16	20788756	20788756	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs545664454	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	43	102	0	ENST00000289416.5:c.492A>T	p.Gln164His	p.Q164H	ENST00000289416	NM_005622.3	164	caA/caT	0	.	G:0.0008	.	G:0	.	T	Q/H	protein_coding	YES	CCDS10589.1	492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAATCTTC	NONE	by1000G	.	Superfamily_domains:SSF56801,Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF139,hmmpanther:PTHR24095	G:0	.	ENSP00000289416	G:0	4/14	.	.	.	.	.	.	.	.	rs545664454	4/14	PASS	ENST00000289416	Transcript	.	G:0.0002	ENSG00000005187	10522	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	G:0	deleterious(0.01)	.	ACSM3_HUMAN	ACSM3	HGNC	H3BVD5_HUMAN,H3BTG0_HUMAN,H3BT38_HUMAN,H3BR33_HUMAN	.	UPI0000251DAA	SNV	ACSM3,missense_variant,p.Gln123His,ENST00000562251,;ACSM3,missense_variant,p.Gln164His,ENST00000440284,;ACSM3,missense_variant,p.Gln164His,ENST00000289416,;ACSM3,missense_variant,p.Gln119His,ENST00000450120,;ACSM3,upstream_gene_variant,,ENST00000563914,;ACSM3,downstream_gene_variant,,ENST00000561795,;ACSM3,downstream_gene_variant,,ENST00000568235,;ERI2,downstream_gene_variant,,ENST00000300005,;	967	102	84	SUCCESS
DNAH3	55567	.	GRCh37	16	21136500	21136500	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	32	47	0	ENST00000261383.3:c.1400A>C	p.His467Pro	p.H467P	ENST00000261383	NM_017539.1	467	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS10594.1	1400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTGTATC	NONE	.	.	hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676	.	.	ENSP00000261383	.	9/62	.	.	.	.	.	.	.	.	.	9/62	PASS	ENST00000261383	Transcript	.	.	ENSG00000158486	2949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.05)	.	DYH3_HUMAN	DNAH3	HGNC	.	.	UPI00001100F2	SNV	DNAH3,missense_variant,p.His467Pro,ENST00000261383,;DNAH3,missense_variant,p.His467Pro,ENST00000415178,;CTC-508F8.1,intron_variant,,ENST00000575612,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	1400	47	64	SUCCESS
ZP2	7783	.	GRCh37	16	21215496	21215496	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	16	73	0	ENST00000574002.1:c.827C>T	p.Thr276Ile	p.T276I	ENST00000574002		276	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS10596.1	827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGGTGAGA	NONE	.	.	hmmpanther:PTHR23343:SF4,hmmpanther:PTHR23343	.	.	ENSP00000460971	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000574002	Transcript	.	.	ENSG00000103310	13188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	tolerated(0.16)	.	ZP2_HUMAN	ZP2	HGNC	.	.	UPI000013C45C	SNV	ZP2,missense_variant,p.Thr276Ile,ENST00000574091,;ZP2,missense_variant,p.Thr276Ile,ENST00000219593,;ZP2,missense_variant,p.Thr276Ile,ENST00000574002,;AF001550.7,intron_variant,,ENST00000572747,;ZP2,non_coding_transcript_exon_variant,,ENST00000576162,;ZP2,downstream_gene_variant,,ENST00000572752,;ZP2,upstream_gene_variant,,ENST00000573114,;	1310	73	38	SUCCESS
POLR3E	55718	.	GRCh37	16	22316495	22316495	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	70	0	ENST00000299853.5:c.55A>G	p.Lys19Glu	p.K19E	ENST00000299853	NM_001258033.1	19	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10605.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAAGAGT	NONE	.	.	hmmpanther:PTHR12069,Pfam_domain:PF04801	.	.	ENSP00000299853	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000299853	Transcript	.	.	ENSG00000058600	30347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.555)	.	deleterious(0)	.	RPC5_HUMAN	POLR3E	HGNC	H3BSI5_HUMAN,H3BRY1_HUMAN,H3BNJ0_HUMAN	.	UPI000006D8F8	SNV	POLR3E,missense_variant,p.Lys19Glu,ENST00000564883,;POLR3E,missense_variant,p.Lys25Glu,ENST00000565358,;POLR3E,missense_variant,p.Lys19Glu,ENST00000299853,;POLR3E,missense_variant,p.Lys19Glu,ENST00000564209,;POLR3E,missense_variant,p.Lys19Glu,ENST00000359210,;POLR3E,5_prime_UTR_variant,,ENST00000563024,;POLR3E,intron_variant,,ENST00000418581,;POLR3E,non_coding_transcript_exon_variant,,ENST00000564256,;POLR3E,missense_variant,p.Lys19Glu,ENST00000564750,;POLR3E,missense_variant,p.Lys19Glu,ENST00000561494,;POLR3E,non_coding_transcript_exon_variant,,ENST00000564061,;POLR3E,non_coding_transcript_exon_variant,,ENST00000567022,;POLR3E,non_coding_transcript_exon_variant,,ENST00000563766,;POLR3E,upstream_gene_variant,,ENST00000565551,;	222	70	68	SUCCESS
E4F1	1877	.	GRCh37	16	2282755	2282755	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	21	53	0	ENST00000301727.4:c.731-2A>C		p.X244_splice	ENST00000301727	NM_004424.3	244		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32370.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGATGA	NONE	.	.	.	.	.	ENSP00000301727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301727	Transcript	.	.	ENSG00000167967	3121	.	.	HIGH	5/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E4F1_HUMAN	E4F1	HGNC	.	.	UPI00001AED0F	SNV	E4F1,splice_acceptor_variant,,ENST00000565090,;E4F1,splice_acceptor_variant,,ENST00000301727,;E4F1,splice_acceptor_variant,,ENST00000565413,;E4F1,splice_acceptor_variant,,ENST00000564139,;DNASE1L2,upstream_gene_variant,,ENST00000569184,;DNASE1L2,upstream_gene_variant,,ENST00000567494,;DNASE1L2,upstream_gene_variant,,ENST00000320700,;DNASE1L2,upstream_gene_variant,,ENST00000382437,;DNASE1L2,upstream_gene_variant,,ENST00000564065,;RP11-304L19.12,downstream_gene_variant,,ENST00000564055,;RP11-304L19.12,downstream_gene_variant,,ENST00000594097,;E4F1,splice_acceptor_variant,,ENST00000562589,;E4F1,splice_acceptor_variant,,ENST00000569796,;E4F1,upstream_gene_variant,,ENST00000567111,;E4F1,upstream_gene_variant,,ENST00000563643,;E4F1,upstream_gene_variant,,ENST00000564930,;	.	53	34	SUCCESS
USP31	57478	.	GRCh37	16	23080584	23080584	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs34435034	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	72	0	ENST00000219689.7:c.2842G>T	p.Val948Leu	p.V948L	ENST00000219689	NM_020718.3	948	Gtg/Ttg	0	T:0.002	T:0.0008	.	T:0	.	A	V/L	protein_coding	YES	CCDS10607.1	2842	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAACACGCCTT	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000219689	T:0	16/16	.	.	.	.	.	.	.	.	rs34435034	16/16	PASS	ENST00000219689	Transcript	.	T:0.0002	ENSG00000103404	20060	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	T:0	tolerated_low_confidence(0.31)	.	UBP31_HUMAN	USP31	HGNC	.	.	UPI0000366B06	SNV	USP31,missense_variant,p.Val948Leu,ENST00000219689,;USP31,missense_variant,p.Val241Leu,ENST00000567975,;USP31,non_coding_transcript_exon_variant,,ENST00000381162,;	2842	72	48	SUCCESS
SCNN1G	6340	.	GRCh37	16	23223399	23223399	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	44	0	ENST00000300061.2:c.1221T>C	p.Cys407=	p.C407=	ENST00000300061	NM_001039.3	407	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS10608.1	1221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTGGGTG	NONE	.	.	hmmpanther:PTHR11690:SF19,hmmpanther:PTHR11690,PROSITE_patterns:PS01206,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859,Gene3D:2qtsA02,Prints_domain:PR01078	.	.	ENSP00000300061	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000300061	Transcript	.	.	ENSG00000166828	10602	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNNG_HUMAN	SCNN1G	HGNC	Q6LCK5_HUMAN,A5X2V1_HUMAN	.	UPI0000070D86	SNV	SCNN1G,synonymous_variant,p.%3D,ENST00000300061,;CTC-391G2.1,intron_variant,,ENST00000563471,;	1364	44	41	SUCCESS
ABCA3	21	.	GRCh37	16	2348543	2348543	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	54	0	ENST00000301732.5:c.1742-2A>G		p.X581_splice	ENST00000301732	NM_001089.2	581		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTGGGGC	NONE	.	.	.	.	.	ENSP00000301732	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301732	Transcript	.	.	ENSG00000167972	33	.	.	HIGH	14/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA3_HUMAN	ABCA3	HGNC	.	.	UPI0000001232	SNV	ABCA3,splice_acceptor_variant,,ENST00000382381,;ABCA3,splice_acceptor_variant,,ENST00000301732,;ABCA3,splice_acceptor_variant,,ENST00000563623,;	.	54	65	SUCCESS
CACNG3	10368	.	GRCh37	16	24373102	24373102	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	88	0	ENST00000005284.3:c.866T>A	p.Leu289Gln	p.L289Q	ENST00000005284	NM_006539.3	289	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS10620.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTACAGT	NONE	.	.	hmmpanther:PTHR12107:SF5,hmmpanther:PTHR12107	.	.	ENSP00000005284	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000005284	Transcript	.	.	ENSG00000006116	1407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.01)	.	CCG3_HUMAN	CACNG3	HGNC	.	.	UPI000000D979	SNV	CACNG3,missense_variant,p.Leu289Gln,ENST00000005284,;	2068	88	85	SUCCESS
HS3ST4	9951	.	GRCh37	16	26147136	26147136	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	39	90	0	ENST00000331351.5:c.938T>G	p.Val313Gly	p.V313G	ENST00000331351	NM_006040.2	313	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS53995.1	938	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTGCTGG	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	.	.	ENSP00000330606	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331351	Transcript	.	.	ENSG00000182601	5200	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.38)	.	HS3S4_HUMAN	HS3ST4	HGNC	A5H458_HUMAN	.	UPI000040938A	SNV	HS3ST4,missense_variant,p.Val313Gly,ENST00000331351,;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;	1330	90	102	SUCCESS
IL4R	3566	.	GRCh37	16	27374493	27374493	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	32	0	ENST00000395762.2:c.1820C>G	p.Ser607Ter	p.S607*	ENST00000395762	NM_000418.3	607	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS10629.1	1820	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCAAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24	.	.	ENSP00000379111	.	11/11	.	.	.	.	.	.	.	.	COSM702832	11/11	PASS	ENST00000395762	Transcript	.	.	ENSG00000077238	6015	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	IL4RA_HUMAN	IL4R	HGNC	J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN	.	UPI0000044371	SNV	IL4R,stop_gained,p.Ser607Ter,ENST00000395762,;IL4R,stop_gained,p.Ser592Ter,ENST00000380922,;IL4R,stop_gained,p.Ser607Ter,ENST00000543915,;IL4R,stop_gained,p.Ser607Ter,ENST00000170630,;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	2079	32	39	SUCCESS
IL21R	50615	.	GRCh37	16	27448852	27448852	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	62	0	ENST00000337929.3:c.196A>T	p.Ser66Cys	p.S66C	ENST00000337929	NM_181078.2	66	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS10630.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCCTC	NONE	.	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	.	.	ENSP00000338010	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337929	Transcript	.	.	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.Ser66Cys,ENST00000395755,;IL21R,missense_variant,p.Ser66Cys,ENST00000564089,;IL21R,missense_variant,p.Ser66Cys,ENST00000395754,;IL21R,missense_variant,p.Ser66Cys,ENST00000337929,;	669	62	59	SUCCESS
GTF3C1	2975	.	GRCh37	16	27509073	27509073	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	48	116	0	ENST00000356183.4:c.2235A>G	p.Pro745=	p.P745=	ENST00000356183	NM_001520.3	745	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS32414.1	2235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTGGGCC	NONE	.	.	hmmpanther:PTHR15180	.	.	ENSP00000348510	.	14/37	.	.	.	.	.	.	.	.	.	14/37	PASS	ENST00000356183	Transcript	.	.	ENSG00000077235	4664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C1_HUMAN	GTF3C1	HGNC	Q7Z7H4_HUMAN,I3L1Z3_HUMAN	.	UPI00001FF123	SNV	GTF3C1,synonymous_variant,p.%3D,ENST00000561623,;GTF3C1,synonymous_variant,p.%3D,ENST00000356183,;GTF3C1,intron_variant,,ENST00000569653,;	2251	116	105	SUCCESS
KIAA0556	0	.	GRCh37	16	27760972	27760972	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750067826	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	48	134	0	ENST00000261588.4:c.2691C>G	p.His897Gln	p.H897Q	ENST00000261588	NM_015202.2	897	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS32415.1	2691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCACGAGTC	NONE	byFrequency	.	hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534	.	.	ENSP00000261588	.	16/28	.	.	.	.	.	.	.	.	rs750067826,COSM1377071,COSM1377072	16/28	PASS	ENST00000261588	Transcript	.	.	ENSG00000047578	29068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.01)	.	tolerated(1)	0,1,1	K0556_HUMAN	KIAA0556	HGNC	B4DHT8_HUMAN	.	UPI000045693C	SNV	KIAA0556,missense_variant,p.His897Gln,ENST00000261588,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;	2710	135	101	SUCCESS
ZG16B	124220	.	GRCh37	16	2880246	2880246	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	120	0	ENST00000382280.3:c.-3T>C		p.*1*	ENST00000382280	NM_145252.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10479.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGGATG	NONE	.	.	.	.	.	ENSP00000371715	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000382280	Transcript	.	.	ENSG00000162078	30456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZG16B_HUMAN	ZG16B	HGNC	G8H6I3_HUMAN,C3PTT6_HUMAN	.	UPI000059D2F8	SNV	ZG16B,5_prime_UTR_variant,,ENST00000382280,;ZG16B,upstream_gene_variant,,ENST00000571723,;ZG16B,upstream_gene_variant,,ENST00000570670,;ZG16B,upstream_gene_variant,,ENST00000572863,;PRSS21,downstream_gene_variant,,ENST00000575739,;ZG16B,upstream_gene_variant,,ENST00000573019,;ZG16B,upstream_gene_variant,,ENST00000576423,;	77	120	102	SUCCESS
C16orf54	283897	.	GRCh37	16	29755668	29755668	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	47	89	0	ENST00000329410.3:c.605A>T	p.Gln202Leu	p.Q202L	ENST00000329410	NM_175900.3	202	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10652.1	605	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCTGGAGG	NONE	.	.	.	.	.	ENSP00000327506	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329410	Transcript	.	.	ENSG00000185905	26649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious_low_confidence(0)	.	CP054_HUMAN	C16orf54	HGNC	.	.	UPI0000141B48	SNV	C16orf54,missense_variant,p.Gln202Leu,ENST00000329410,;AC009133.17,upstream_gene_variant,,ENST00000565600,;	701	89	93	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29906726	29906726	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773985121	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	72	0	ENST00000308713.5:c.707G>T	p.Gly236Val	p.G236V	ENST00000308713	NM_001114099.2	236	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10659.1	707	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATCCCCCA	NONE	.	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000312550	.	5/17	.	.	.	.	.	.	.	.	rs773985121,COSM703345,COSM1147670	5/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.94)	.	tolerated(0.07)	0,1,1	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,missense_variant,p.Gly236Val,ENST00000308713,;SEZ6L2,missense_variant,p.Gly166Val,ENST00000350527,;SEZ6L2,missense_variant,p.Gly192Val,ENST00000537485,;SEZ6L2,intron_variant,,ENST00000346932,;SEZ6L2,downstream_gene_variant,,ENST00000568380,;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;	1235	72	68	SUCCESS
FBRS	64319	.	GRCh37	16	30680873	30680873	+	synonymous_variant	Silent	SNP	G	G	C	rs775102265	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	57	0	ENST00000287468.5:c.1290G>C	p.Pro430=	p.P430=	ENST00000287468	NM_001105079.1	430	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	.	2850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGGGAGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14429:SF19,hmmpanther:PTHR14429	.	.	ENSP00000348489	.	18/18	.	.	.	.	.	.	.	.	rs775102265	18/18	PASS	ENST00000356166	Transcript	.	.	ENSG00000156860	20442	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FBRS	HGNC	J3KNZ9_HUMAN	.	UPI0000E59D83	SNV	FBRS,synonymous_variant,p.%3D,ENST00000287468,;FBRS,synonymous_variant,p.%3D,ENST00000568722,;FBRS,synonymous_variant,p.%3D,ENST00000356166,;FBRS,intron_variant,,ENST00000395073,;FBRS,3_prime_UTR_variant,,ENST00000543786,;FBRS,non_coding_transcript_exon_variant,,ENST00000494101,;FBRS,downstream_gene_variant,,ENST00000570170,;	3938	57	65	SUCCESS
PHKG2	5261	.	GRCh37	16	30764551	30764551	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	53	0	ENST00000563588.1:c.327-2A>T		p.X109_splice	ENST00000563588	NM_000294.2	109		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10690.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTAGGATG	NONE	.	.	.	.	.	ENSP00000455607	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000563588	Transcript	.	.	ENSG00000156873	8931	.	.	HIGH	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHKG2_HUMAN	PHKG2	HGNC	Q59GQ4_HUMAN,H3BTW6_HUMAN,H3BP07_HUMAN	.	UPI000012DF54	SNV	PHKG2,splice_acceptor_variant,,ENST00000565897,;PHKG2,splice_acceptor_variant,,ENST00000565924,;PHKG2,splice_acceptor_variant,,ENST00000328273,;PHKG2,splice_acceptor_variant,,ENST00000424889,;PHKG2,splice_acceptor_variant,,ENST00000563588,;PHKG2,upstream_gene_variant,,ENST00000561712,;C16orf93,downstream_gene_variant,,ENST00000541260,;C16orf93,downstream_gene_variant,,ENST00000535476,;C16orf93,downstream_gene_variant,,ENST00000544613,;C16orf93,downstream_gene_variant,,ENST00000543610,;RP11-2C24.4,downstream_gene_variant,,ENST00000483578,;PHKG2,splice_acceptor_variant,,ENST00000563913,;PHKG2,splice_acceptor_variant,,ENST00000563607,;PHKG2,splice_acceptor_variant,,ENST00000564838,;PHKG2,non_coding_transcript_exon_variant,,ENST00000569684,;C16orf93,downstream_gene_variant,,ENST00000544487,;C16orf93,downstream_gene_variant,,ENST00000544643,;PHKG2,downstream_gene_variant,,ENST00000569762,;C16orf93,downstream_gene_variant,,ENST00000543128,;C16orf93,downstream_gene_variant,,ENST00000546006,;C16orf93,downstream_gene_variant,,ENST00000433909,;C16orf93,downstream_gene_variant,,ENST00000537986,;	.	53	40	SUCCESS
ORAI3	93129	.	GRCh37	16	30965031	30965031	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	53	0	ENST00000318663.4:c.754A>G	p.Met252Val	p.M252V	ENST00000318663	NM_152288.2	252	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS10697.1	754	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCATGGTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31501:SF6,hmmpanther:PTHR31501,Pfam_domain:PF07856	.	.	ENSP00000322249	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318663	Transcript	.	.	ENSG00000175938	28185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.949)	.	tolerated(0.14)	.	ORAI3_HUMAN	ORAI3	HGNC	.	.	UPI00000735E7	SNV	ORAI3,missense_variant,p.Met252Val,ENST00000318663,;ORAI3,missense_variant,p.Met252Val,ENST00000566237,;ORAI3,intron_variant,,ENST00000562699,;FBXL19,downstream_gene_variant,,ENST00000427128,;FBXL19,downstream_gene_variant,,ENST00000471231,;FBXL19,downstream_gene_variant,,ENST00000380310,;SETD1A,upstream_gene_variant,,ENST00000262519,;SETD1A,upstream_gene_variant,,ENST00000452917,;FBXL19,downstream_gene_variant,,ENST00000338343,;AC135048.13,non_coding_transcript_exon_variant,,ENST00000566056,;AC135048.13,intron_variant,,ENST00000562642,;ORAI3,downstream_gene_variant,,ENST00000563161,;	978	53	46	SUCCESS
PYDC1	260434	.	GRCh37	16	31228226	31228226	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	39	87	0	ENST00000302964.3:c.124G>T	p.Gly42Cys	p.G42C	ENST00000302964	NM_152901.2	42	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS10710.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCCCCGCG	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR10454:SF130,hmmpanther:PTHR10454,Pfam_domain:PF02758,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000304336	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302964	Transcript	.	.	ENSG00000169900	30261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PYDC1_HUMAN	PYDC1	HGNC	.	.	UPI0000034E14	SNV	PYDC1,missense_variant,p.Gly42Cys,ENST00000302964,;TRIM72,intron_variant,,ENST00000322122,;PYDC1,upstream_gene_variant,,ENST00000568383,;	455	87	79	SUCCESS
ITGAD	3681	.	GRCh37	16	31419776	31419776	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	29	56	0	ENST00000389202.2:c.1040A>T	p.Gln347Leu	p.Q347L	ENST00000389202	NM_005353.2	347	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS32438.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGCACG	NONE	.	.	Superfamily_domains:SSF69318,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS51470	.	.	ENSP00000373854	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.642)	.	deleterious(0)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Gln347Leu,ENST00000389202,;RP11-120K18.2,downstream_gene_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	1089	56	52	SUCCESS
ITGAD	3681	.	GRCh37	16	31424529	31424529	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	54	1	ENST00000389202.2:c.1958T>C	p.Val653Ala	p.V653A	ENST00000389202	NM_005353.2	653	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS32438.1	1958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGTCTGTC	NONE	.	.	Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	.	.	ENSP00000373854	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000389202	Transcript	.	.	ENSG00000156886	6146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.02)	.	ITAD_HUMAN	ITGAD	HGNC	Q59H14_HUMAN	.	UPI000004B27A	SNV	ITGAD,missense_variant,p.Val653Ala,ENST00000389202,;ITGAD,downstream_gene_variant,,ENST00000444228,;	2007	55	61	SUCCESS
ZNF843	283933	.	GRCh37	16	31448496	31448496	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	29	0	ENST00000315678.5:c.-326T>C		p.*109*	ENST00000315678	NM_001136509.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45471.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCATCATT	NONE	.	.	.	.	.	ENSP00000322899	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315678	Transcript	.	.	ENSG00000176723	28710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN843_HUMAN	ZNF843	HGNC	.	.	UPI000006D317	SNV	ZNF843,5_prime_UTR_variant,,ENST00000315678,;ZNF843,5_prime_UTR_variant,,ENST00000564218,;	400	29	16	SUCCESS
ARMC5	79798	.	GRCh37	16	31477974	31477974	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	47	0	ENST00000268314.4:c.2572A>T	p.Ile858Phe	p.I858F	ENST00000268314	NM_001105247.1	858	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS45472.1	2572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCATCCAC	NONE	.	.	hmmpanther:PTHR23312	.	.	ENSP00000268314	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000268314	Transcript	.	.	ENSG00000140691	25781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.668)	.	tolerated(0.61)	.	ARMC5_HUMAN	ARMC5	HGNC	.	.	UPI0000F6E6C0	SNV	ARMC5,missense_variant,p.Ile890Phe,ENST00000538189,;ARMC5,missense_variant,p.Ile858Phe,ENST00000268314,;ARMC5,missense_variant,p.Ile521Phe,ENST00000564900,;ARMC5,missense_variant,p.Ile858Phe,ENST00000563544,;ARMC5,missense_variant,p.Ile953Phe,ENST00000408912,;ARMC5,missense_variant,p.Ile502Phe,ENST00000412665,;ARMC5,3_prime_UTR_variant,,ENST00000457010,;TGFB1I1,upstream_gene_variant,,ENST00000565454,;ARMC5,downstream_gene_variant,,ENST00000564514,;ARMC5,downstream_gene_variant,,ENST00000570119,;	3101	47	42	SUCCESS
PDIA2	64714	.	GRCh37	16	333349	333349	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	62	0	ENST00000219406.6:c.180T>A	p.Pro60=	p.P60=	ENST00000219406	NM_006849.2	60	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42089.1	180	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCTGCCCT	NONE	.	.	PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF75,Gene3D:3.40.30.10,Pfam_domain:PF00085,TIGRFAM_domain:TIGR01130,Superfamily_domains:SSF52833	.	.	ENSP00000219406	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000219406	Transcript	.	.	ENSG00000185615	14180	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIA2_HUMAN	PDIA2	HGNC	B3KWF3_HUMAN	.	UPI0000131481	SNV	PDIA2,synonymous_variant,p.%3D,ENST00000404312,;PDIA2,synonymous_variant,p.%3D,ENST00000219406,;PDIA2,synonymous_variant,p.%3D,ENST00000456379,;AXIN1,downstream_gene_variant,,ENST00000457798,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;ARHGDIG,downstream_gene_variant,,ENST00000219409,;ARHGDIG,downstream_gene_variant,,ENST00000447871,;AXIN1,downstream_gene_variant,,ENST00000262320,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,upstream_gene_variant,,ENST00000435833,;AXIN1,downstream_gene_variant,,ENST00000354866,;PDIA2,upstream_gene_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;PDIA2,upstream_gene_variant,,ENST00000482665,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;AXIN1,downstream_gene_variant,,ENST00000461023,;	198	62	43	SUCCESS
TRAP1	10131	.	GRCh37	16	3739091	3739091	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	83	0	ENST00000246957.5:c.295G>T	p.Asp99Tyr	p.D99Y	ENST00000246957	NM_016292.2	99	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS10508.1	295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCCAAAA	NONE	.	.	HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF24,Gene3D:3.30.565.10,PIRSF_domain:PIRSF002583,Superfamily_domains:SSF55874,Prints_domain:PR00775	.	.	ENSP00000246957	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000246957	Transcript	.	.	ENSG00000126602	16264	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TRAP1_HUMAN	TRAP1	HGNC	I3L0P6_HUMAN,I3L0K7_HUMAN	.	UPI000013CC0A	SNV	TRAP1,missense_variant,p.Asp99Tyr,ENST00000246957,;TRAP1,missense_variant,p.Asp46Tyr,ENST00000538171,;TRAP1,5_prime_UTR_variant,,ENST00000571538,;TRAP1,upstream_gene_variant,,ENST00000576335,;TRAP1,non_coding_transcript_exon_variant,,ENST00000576106,;TRAP1,intron_variant,,ENST00000574941,;TRAP1,3_prime_UTR_variant,,ENST00000570403,;TRAP1,3_prime_UTR_variant,,ENST00000571011,;TRAP1,3_prime_UTR_variant,,ENST00000571804,;	384	83	52	SUCCESS
PHKB	5257	.	GRCh37	16	47622970	47622970	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	20	66	0	ENST00000323584.5:c.1025T>C	p.Leu342Ser	p.L342S	ENST00000323584	NM_000293.2	342	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS10729.1	1025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATTGGAAG	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3,Pfam_domain:PF00723,Superfamily_domains:SSF48208	.	.	ENSP00000313504	.	10/31	.	.	.	.	.	.	.	.	.	10/31	PASS	ENST00000323584	Transcript	.	.	ENSG00000102893	8927	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.595)	.	deleterious(0.01)	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Leu342Ser,ENST00000299167,;PHKB,missense_variant,p.Leu342Ser,ENST00000323584,;PHKB,missense_variant,p.Leu335Ser,ENST00000566044,;PHKB,missense_variant,p.Leu335Ser,ENST00000455779,;PHKB,non_coding_transcript_exon_variant,,ENST00000567402,;PHKB,downstream_gene_variant,,ENST00000570047,;	1049	66	22	SUCCESS
PHKB	5257	.	GRCh37	16	47727355	47727355	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	52	136	0	ENST00000323584.5:c.2832A>T	p.Arg944=	p.R944=	ENST00000323584	NM_000293.2	944	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10729.1	2832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCGAGTGTG	NONE	.	.	hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3	.	.	ENSP00000313504	.	28/31	.	.	.	.	.	.	.	.	.	28/31	PASS	ENST00000323584	Transcript	.	.	ENSG00000102893	8927	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,synonymous_variant,p.%3D,ENST00000299167,;PHKB,synonymous_variant,p.%3D,ENST00000323584,;PHKB,synonymous_variant,p.%3D,ENST00000566044,;PHKB,synonymous_variant,p.%3D,ENST00000455779,;PHKB,upstream_gene_variant,,ENST00000564711,;PHKB,non_coding_transcript_exon_variant,,ENST00000566319,;	2856	136	62	SUCCESS
ZNF423	23090	.	GRCh37	16	49764842	49764842	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	36	93	0	ENST00000262383.2:c.117C>T	p.Ser39=	p.S39=	ENST00000262383		39	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32445.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGGCTGGT	NONE	.	.	hmmpanther:PTHR24385:SF49,hmmpanther:PTHR24385	.	.	ENSP00000455426	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,synonymous_variant,p.%3D,ENST00000262383,;ZNF423,synonymous_variant,p.%3D,ENST00000561874,;ZNF423,synonymous_variant,p.%3D,ENST00000561648,;ZNF423,5_prime_UTR_variant,,ENST00000563137,;ZNF423,5_prime_UTR_variant,,ENST00000562520,;ZNF423,5_prime_UTR_variant,,ENST00000562871,;ZNF423,non_coding_transcript_exon_variant,,ENST00000568094,;	171	93	43	SUCCESS
C16orf89	146556	.	GRCh37	16	5112500	5112500	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1224169796	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	56	0	ENST00000315997.5:c.284T>A	p.Leu95Gln	p.L95Q	ENST00000315997	NM_152459.4	95	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS42116.2	284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCAGCATC	NONE	.	.	.	.	.	ENSP00000324672	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000315997	Transcript	.	.	ENSG00000153446	28687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CP089_HUMAN	C16orf89	HGNC	.	.	UPI000166306A	SNV	C16orf89,missense_variant,p.Leu133Gln,ENST00000350219,;C16orf89,missense_variant,p.Leu95Gln,ENST00000315997,;C16orf89,missense_variant,p.Leu133Gln,ENST00000422873,;C16orf89,missense_variant,p.Leu95Gln,ENST00000474471,;C16orf89,missense_variant,p.Leu95Gln,ENST00000472572,;ALG1,intron_variant,,ENST00000588623,;C16orf89,non_coding_transcript_exon_variant,,ENST00000591875,;C16orf89,upstream_gene_variant,,ENST00000592343,;	486	56	52	SUCCESS
RBL2	5934	.	GRCh37	16	53498136	53498136	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs762145795	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	23	46	0	ENST00000262133.6:c.1561-2A>G		p.X521_splice	ENST00000262133	NM_005611.3	521		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10748.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATAGGGTA	NONE	.	.	.	.	.	ENSP00000262133	.	.	.	.	.	.	.	.	.	.	rs762145795	.	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	.	.	HIGH	11/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	SNV	RBL2,splice_acceptor_variant,,ENST00000544545,;RBL2,splice_acceptor_variant,,ENST00000262133,;RBL2,splice_acceptor_variant,,ENST00000544405,;RBL2,splice_acceptor_variant,,ENST00000379935,;RBL2,splice_acceptor_variant,,ENST00000561512,;RBL2,upstream_gene_variant,,ENST00000562837,;RBL2,upstream_gene_variant,,ENST00000562850,;	.	46	28	SUCCESS
SLC12A3	6559	.	GRCh37	16	56936357	56936357	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs13306666	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	21	86	0	ENST00000563236.1:c.2793C>A	p.Asn931Lys	p.N931K	ENST00000563236		931	aaC/aaA	0	.	T:0	.	T:0	.	A	N/K	protein_coding	YES	CCDS10770.1	2820	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAACGAGAT	NONE	byFrequency|byCluster|byHapMap|by1000G	.	hmmpanther:PTHR11827:SF9,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	T:0.006	.	ENSP00000402152	T:0	24/26	.	.	.	.	.	.	.	.	rs13306666,COSM1378498	24/26	PASS	ENST00000438926	Transcript	.	T:0.0012	ENSG00000070915	10912	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.068)	T:0	tolerated(0.19)	0,1	S12A3_HUMAN	SLC12A3	HGNC	.	.	UPI00001FF243	SNV	SLC12A3,missense_variant,p.Asn939Lys,ENST00000566786,;SLC12A3,missense_variant,p.Asn931Lys,ENST00000563236,;SLC12A3,missense_variant,p.Asn940Lys,ENST00000438926,;SLC12A3,missense_variant,p.Asn930Lys,ENST00000262502,;SLC12A3,upstream_gene_variant,,ENST00000563352,;SLC12A3,non_coding_transcript_exon_variant,,ENST00000569002,;RPS24P17,upstream_gene_variant,,ENST00000479895,;	2849	86	24	SUCCESS
CNGB1	1258	.	GRCh37	16	57935438	57935438	+	synonymous_variant	Silent	SNP	G	G	A	rs1334721400	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	30	57	0	ENST00000251102.8:c.2886C>T	p.Leu962=	p.L962=	ENST00000251102	NM_001297.4	962	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42169.1	2886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAGAGTGC	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206	.	.	ENSP00000251102	.	28/33	.	.	.	.	.	.	.	.	.	28/33	PASS	ENST00000251102	Transcript	.	.	ENSG00000070729	2151	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGB1_HUMAN	CNGB1	HGNC	H3BQC3_HUMAN	.	UPI000013CCDF	SNV	CNGB1,synonymous_variant,p.%3D,ENST00000564448,;CNGB1,synonymous_variant,p.%3D,ENST00000251102,;CNGB1,upstream_gene_variant,,ENST00000565942,;CNGB1,non_coding_transcript_exon_variant,,ENST00000569643,;	2947	57	35	SUCCESS
CCDC113	29070	.	GRCh37	16	58293762	58293762	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	75	176	0	ENST00000219299.4:c.551A>T	p.Asn184Ile	p.N184I	ENST00000219299	NM_014157.3	184	aAt/aTt	0	.	.	.	.	.	T	N/I	protein_coding	YES	CCDS10795.1	551	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATAATATGA	NONE	.	.	hmmpanther:PTHR15654,hmmpanther:PTHR15654:SF2,Pfam_domain:PF13870	.	.	ENSP00000219299	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000219299	Transcript	.	.	ENSG00000103021	25002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.25)	.	CC113_HUMAN	CCDC113	HGNC	H3BQS9_HUMAN	.	UPI000007254E	SNV	CCDC113,missense_variant,p.Asn184Ile,ENST00000219299,;CCDC113,missense_variant,p.Asn130Ile,ENST00000443128,;CCDC113,3_prime_UTR_variant,,ENST00000561517,;	630	176	85	SUCCESS
PRSS54	221191	.	GRCh37	16	58320072	58320072	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	37	106	0	ENST00000219301.4:c.291A>C	p.Ile97=	p.I97=	ENST00000219301	NM_001080492.1	97	atA/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS32463.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTATACC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF47,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000219301	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000219301	Transcript	.	.	ENSG00000103023	26336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS54_HUMAN	PRSS54	HGNC	H3BQS7_HUMAN,H3BNY0_HUMAN,F5H6C6_HUMAN	.	UPI0000199F24	SNV	PRSS54,synonymous_variant,p.%3D,ENST00000569727,;PRSS54,synonymous_variant,p.%3D,ENST00000219301,;PRSS54,synonymous_variant,p.%3D,ENST00000567164,;PRSS54,5_prime_UTR_variant,,ENST00000569079,;PRSS54,5_prime_UTR_variant,,ENST00000543437,;CCDC113,downstream_gene_variant,,ENST00000219299,;CCDC113,downstream_gene_variant,,ENST00000443128,;PRSS54,upstream_gene_variant,,ENST00000563336,;AC009107.1,downstream_gene_variant,,ENST00000366168,;	686	106	48	SUCCESS
NHLRC4	283948	.	GRCh37	16	618166	618166	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	38	1	ENST00000424439.2:c.119T>C	p.Leu40Pro	p.L40P	ENST00000424439		40	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS45366.1	119	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTGGGGG	NONE	.	.	hmmpanther:PTHR14678,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	.	.	ENSP00000410858	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000424439	Transcript	.	.	ENSG00000257108	26700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.71)	.	deleterious(0.01)	.	NHLC4_HUMAN	NHLRC4	HGNC	.	.	UPI0000073D57	SNV	NHLRC4,missense_variant,p.Leu40Pro,ENST00000424439,;NHLRC4,missense_variant,p.Leu40Pro,ENST00000540585,;PIGQ,intron_variant,,ENST00000293874,;PIGQ,intron_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000321878,;PIGQ,upstream_gene_variant,,ENST00000409439,;PIGQ,upstream_gene_variant,,ENST00000439574,;PIGQ,upstream_gene_variant,,ENST00000470411,;C16orf11,downstream_gene_variant,,ENST00000409413,;PIGQ,upstream_gene_variant,,ENST00000026218,;PIGQ,upstream_gene_variant,,ENST00000422307,;PIGQ,upstream_gene_variant,,ENST00000443147,;	776	39	38	SUCCESS
CDH5	1003	.	GRCh37	16	66431975	66431975	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	41	113	0	ENST00000341529.3:c.1451A>T	p.Gln484Leu	p.Q484L	ENST00000341529	NM_001795.3	484	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10804.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCAGCCCA	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF89,PROSITE_profiles:PS50268	.	.	ENSP00000344115	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000341529	Transcript	.	.	ENSG00000179776	1764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	deleterious(0)	.	CADH5_HUMAN	CDH5	HGNC	Q59EA3_HUMAN,I3L1J2_HUMAN,H3BR64_HUMAN,H3BPG1_HUMAN,B4DTR2_HUMAN	.	UPI000016B272	SNV	CDH5,missense_variant,p.Gln484Leu,ENST00000341529,;CDH5,5_prime_UTR_variant,,ENST00000539168,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	1599	113	48	SUCCESS
CMTM4	146223	.	GRCh37	16	66670433	66670433	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	27	58	0	ENST00000330687.4:c.238C>T	p.Pro80Ser	p.P80S	ENST00000330687	NM_181521.2	80	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS10817.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGGGGAGC	NONE	.	.	Pfam_domain:PF01284,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF29,PROSITE_profiles:PS51225	.	.	ENSP00000333833	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000330687	Transcript	.	.	ENSG00000183723	19175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.75)	.	CKLF4_HUMAN	CMTM4	HGNC	J3QRP2_HUMAN	.	UPI00000740BD	SNV	CMTM4,missense_variant,p.Pro80Ser,ENST00000394106,;CMTM4,missense_variant,p.Pro80Ser,ENST00000330687,;CMTM4,missense_variant,p.Pro51Ser,ENST00000563952,;CMTM4,upstream_gene_variant,,ENST00000561680,;	420	58	32	SUCCESS
PLEKHG4	25894	.	GRCh37	16	67322137	67322137	+	synonymous_variant	Silent	SNP	G	G	A	rs759284532	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	41	0	ENST00000360461.5:c.3288G>A	p.Ser1096=	p.S1096=	ENST00000360461	NM_001129727.1	1096	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32466.1	3288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCGAACTC	NONE	byFrequency	.	hmmpanther:PTHR22826:SF110,hmmpanther:PTHR22826	.	.	ENSP00000353646	.	19/21	.	.	.	.	.	.	.	.	rs759284532	19/21	PASS	ENST00000360461	Transcript	.	.	ENSG00000196155	24501	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHG4_HUMAN	PLEKHG4	HGNC	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN	.	UPI000013C774	SNV	PLEKHG4,synonymous_variant,p.%3D,ENST00000360461,;PLEKHG4,synonymous_variant,p.%3D,ENST00000379344,;PLEKHG4,synonymous_variant,p.%3D,ENST00000569875,;PLEKHG4,synonymous_variant,p.%3D,ENST00000427155,;PLEKHG4,synonymous_variant,p.%3D,ENST00000450733,;KCTD19,downstream_gene_variant,,ENST00000304372,;KCTD19,downstream_gene_variant,,ENST00000562841,;PLEKHG4,synonymous_variant,p.%3D,ENST00000567136,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,non_coding_transcript_exon_variant,,ENST00000562289,;PLEKHG4,intron_variant,,ENST00000393966,;KCTD19,downstream_gene_variant,,ENST00000570049,;KCTD19,downstream_gene_variant,,ENST00000566392,;KCTD19,downstream_gene_variant,,ENST00000569333,;	5823	41	16	SUCCESS
KCTD19	146212	.	GRCh37	16	67325322	67325322	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	43	129	0	ENST00000304372.5:c.2455T>C	p.Tyr819His	p.Y819H	ENST00000304372	NM_001100915.1	819	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS42179.1	2455	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATAAAACA	NONE	.	.	.	.	.	ENSP00000305702	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000304372	Transcript	.	.	ENSG00000168676	24753	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCD19_HUMAN	KCTD19	HGNC	J3KSZ9_HUMAN,H3BVC0_HUMAN	.	UPI00001D7875	SNV	KCTD19,missense_variant,p.Tyr819His,ENST00000304372,;KCTD19,intron_variant,,ENST00000562841,;PLEKHG4,downstream_gene_variant,,ENST00000360461,;PLEKHG4,downstream_gene_variant,,ENST00000379344,;PLEKHG4,downstream_gene_variant,,ENST00000569875,;PLEKHG4,downstream_gene_variant,,ENST00000427155,;PLEKHG4,downstream_gene_variant,,ENST00000450733,;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,;PLEKHG4,downstream_gene_variant,,ENST00000563969,;PLEKHG4,downstream_gene_variant,,ENST00000393966,;PLEKHG4,downstream_gene_variant,,ENST00000567136,;PLEKHG4,downstream_gene_variant,,ENST00000562289,;	2511	129	47	SUCCESS
LRRC36	55282	.	GRCh37	16	67375858	67375858	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	28	63	0	ENST00000329956.6:c.71-2A>C		p.X24_splice	ENST00000329956	NM_018296.5	24		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32467.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGAACT	NONE	.	.	.	.	.	ENSP00000329943	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000329956	Transcript	.	.	ENSG00000159708	25615	.	.	HIGH	1/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC36_HUMAN	LRRC36	HGNC	J3QRT0_HUMAN,H3BSQ6_HUMAN	.	UPI0000409634	SNV	LRRC36,splice_acceptor_variant,,ENST00000568804,;LRRC36,splice_acceptor_variant,,ENST00000329956,;LRRC36,intron_variant,,ENST00000569499,;LRRC36,intron_variant,,ENST00000561948,;LRRC36,splice_acceptor_variant,,ENST00000566558,;LRRC36,intron_variant,,ENST00000563303,;LRRC36,splice_acceptor_variant,,ENST00000569228,;LRRC36,splice_acceptor_variant,,ENST00000565019,;LRRC36,intron_variant,,ENST00000570075,;	.	63	32	SUCCESS
EDC4	23644	.	GRCh37	16	67909967	67909967	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	23	88	0	ENST00000358933.5:c.202A>G	p.Thr68Ala	p.T68A	ENST00000358933	NM_014329.4	68	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10849.1	202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGGACCATG	NONE	.	.	hmmpanther:PTHR15598	.	.	ENSP00000351811	.	2/29	.	.	.	.	.	.	.	.	.	2/29	PASS	ENST00000358933	Transcript	.	.	ENSG00000038358	17157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.49)	.	EDC4_HUMAN	EDC4	HGNC	.	.	UPI0000141377	SNV	EDC4,missense_variant,p.Thr68Ala,ENST00000358933,;NUTF2,downstream_gene_variant,,ENST00000219169,;NUTF2,downstream_gene_variant,,ENST00000568396,;NUTF2,downstream_gene_variant,,ENST00000569436,;AC040162.1,upstream_gene_variant,,ENST00000408599,;EDC4,upstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000536072,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,upstream_gene_variant,,ENST00000577028,;EDC4,upstream_gene_variant,,ENST00000576972,;NUTF2,downstream_gene_variant,,ENST00000587481,;EDC4,upstream_gene_variant,,ENST00000573992,;EDC4,upstream_gene_variant,,ENST00000572724,;EDC4,upstream_gene_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575514,;	441	88	26	SUCCESS
HYDIN	54768	.	GRCh37	16	70995883	70995883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	89	0	ENST00000393567.2:c.5947C>A	p.Leu1983Met	p.L1983M	ENST00000393567	NM_001270974.1	1983	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS59269.1	5947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGGCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	.	.	ENSP00000377197	.	38/86	.	.	.	.	.	.	.	.	.	38/86	PASS	ENST00000393567	Transcript	.	.	ENSG00000157423	19368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.407)	.	.	.	HYDIN_HUMAN	HYDIN	HGNC	K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN	.	UPI0001FEF4F9	SNV	HYDIN,missense_variant,p.Leu1983Met,ENST00000393567,;HYDIN,non_coding_transcript_exon_variant,,ENST00000546297,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;	6098	89	41	SUCCESS
IST1	9798	.	GRCh37	16	71957226	71957226	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	48	93	0	ENST00000535424.1:c.834G>A	p.Gln278=	p.Q278=	ENST00000535424		278	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS59271.1	834	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCAGGCCTT	NONE	.	.	hmmpanther:PTHR12161	.	.	ENSP00000438399	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000535424	Transcript	.	.	ENSG00000182149	28977	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IST1_HUMAN	IST1	HGNC	J3QLU7_HUMAN,H3BUI0_HUMAN,H3BRE2_HUMAN,H3BQF7_HUMAN,H3BQ38_HUMAN,H3BPP6_HUMAN,H3BMU1_HUMAN,B4DXC9_HUMAN,B4DLP1_HUMAN	.	UPI00001FF5EB	SNV	IST1,synonymous_variant,p.%3D,ENST00000538850,;IST1,synonymous_variant,p.%3D,ENST00000378799,;IST1,synonymous_variant,p.%3D,ENST00000541571,;IST1,synonymous_variant,p.%3D,ENST00000544564,;IST1,synonymous_variant,p.%3D,ENST00000456820,;IST1,synonymous_variant,p.%3D,ENST00000606369,;IST1,synonymous_variant,p.%3D,ENST00000535424,;IST1,synonymous_variant,p.%3D,ENST00000329908,;IST1,intron_variant,,ENST00000378798,;IST1,downstream_gene_variant,,ENST00000539186,;IST1,downstream_gene_variant,,ENST00000424485,;IST1,downstream_gene_variant,,ENST00000541918,;IST1,downstream_gene_variant,,ENST00000534994,;IST1,downstream_gene_variant,,ENST00000537613,;RP11-498D10.5,intron_variant,,ENST00000567146,;IST1,non_coding_transcript_exon_variant,,ENST00000538565,;IST1,synonymous_variant,p.%3D,ENST00000536027,;IST1,3_prime_UTR_variant,,ENST00000439924,;IST1,non_coding_transcript_exon_variant,,ENST00000537571,;IST1,downstream_gene_variant,,ENST00000545518,;IST1,downstream_gene_variant,,ENST00000545388,;IST1,upstream_gene_variant,,ENST00000541180,;IST1,downstream_gene_variant,,ENST00000538709,;IST1,downstream_gene_variant,,ENST00000566536,;	950	93	59	SUCCESS
NPIPB15	440348	.	GRCh37	16	74411882	74411882	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1390034264	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	12	90	0	ENST00000429990.1:c.11G>A	p.Arg4His	p.R4H	ENST00000429990		4	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	.	11	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGCTTTT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000411140	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000429990	Transcript	.	.	ENSG00000196436	34409	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	NPB15_HUMAN	NPIPB15	HGNC	.	.	UPI000198C783	SNV	NPIPB15,missense_variant,p.Arg4His,ENST00000429990,;	107	90	58	SUCCESS
CNTNAP4	85445	.	GRCh37	16	76523604	76523604	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	38	115	0	ENST00000478060.1:c.1685A>T	p.Gln562Leu	p.Q562L	ENST00000478060	NM_138994.3	562	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS10924.2	1685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACAGCACA	NONE	.	.	PROSITE_profiles:PS51406,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560,Gene3D:3.90.215.10,Superfamily_domains:SSF56496	.	.	ENSP00000418741	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000478060	Transcript	.	.	ENSG00000152910	18747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	deleterious(0.04)	.	CNTP4_HUMAN	CNTNAP4	HGNC	H3BPC8_HUMAN	.	UPI000059D3C6	SNV	CNTNAP4,missense_variant,p.Gln562Leu,ENST00000478060,;CNTNAP4,missense_variant,p.Gln586Leu,ENST00000377504,;CNTNAP4,missense_variant,p.Gln634Leu,ENST00000307431,;CNTNAP4,missense_variant,p.Gln638Leu,ENST00000476707,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	1685	115	47	SUCCESS
CCDC78	124093	.	GRCh37	16	774367	774367	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	35	0	ENST00000293889.6:c.908T>A	p.Leu303Gln	p.L303Q	ENST00000293889	NM_001031737.2	303	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32353.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAGCCTC	NONE	.	.	hmmpanther:PTHR22106:SF5,hmmpanther:PTHR22106	.	.	ENSP00000293889	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000293889	Transcript	.	.	ENSG00000162004	14153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CCD78_HUMAN	CCDC78	HGNC	I3L158_HUMAN	.	UPI00004568E2	SNV	CCDC78,missense_variant,p.Leu152Gln,ENST00000345165,;CCDC78,missense_variant,p.Leu303Gln,ENST00000293889,;FAM173A,downstream_gene_variant,,ENST00000568916,;HAGHL,upstream_gene_variant,,ENST00000564537,;FAM173A,downstream_gene_variant,,ENST00000569529,;HAGHL,upstream_gene_variant,,ENST00000389703,;METRN,downstream_gene_variant,,ENST00000568223,;HAGHL,upstream_gene_variant,,ENST00000561546,;HAGHL,upstream_gene_variant,,ENST00000562141,;HAGHL,upstream_gene_variant,,ENST00000564545,;FAM173A,downstream_gene_variant,,ENST00000564000,;HAGHL,upstream_gene_variant,,ENST00000568141,;HAGHL,upstream_gene_variant,,ENST00000562187,;HAGHL,upstream_gene_variant,,ENST00000567414,;HAGHL,upstream_gene_variant,,ENST00000341413,;HAGHL,upstream_gene_variant,,ENST00000563792,;FAM173A,downstream_gene_variant,,ENST00000219535,;HAGHL,upstream_gene_variant,,ENST00000549114,;CCDC78,downstream_gene_variant,,ENST00000423653,;HAGHL,upstream_gene_variant,,ENST00000563156,;CCDC78,non_coding_transcript_exon_variant,,ENST00000482152,;CCDC78,non_coding_transcript_exon_variant,,ENST00000478979,;CCDC78,non_coding_transcript_exon_variant,,ENST00000466708,;CCDC78,non_coding_transcript_exon_variant,,ENST00000482878,;CCDC78,non_coding_transcript_exon_variant,,ENST00000481804,;CCDC78,non_coding_transcript_exon_variant,,ENST00000463539,;CCDC78,non_coding_transcript_exon_variant,,ENST00000485091,;CCDC78,downstream_gene_variant,,ENST00000471861,;FAM173A,downstream_gene_variant,,ENST00000566525,;HAGHL,upstream_gene_variant,,ENST00000569143,;HAGHL,upstream_gene_variant,,ENST00000561750,;CCDC78,downstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000389701,;HAGHL,upstream_gene_variant,,ENST00000561561,;CCDC78,downstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;HAGHL,upstream_gene_variant,,ENST00000567696,;FAM173A,downstream_gene_variant,,ENST00000570237,;CCDC78,downstream_gene_variant,,ENST00000439619,;CCDC78,downstream_gene_variant,,ENST00000460023,;FAM173A,downstream_gene_variant,,ENST00000564640,;CCDC78,downstream_gene_variant,,ENST00000538176,;FAM173A,downstream_gene_variant,,ENST00000566437,;	1014	35	38	SUCCESS
PKD1L2	114780	.	GRCh37	16	81248727	81248727	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	23	96	0	ENST00000337114.4:c.536T>A	p.Val179Asp	p.V179D	ENST00000337114	NM_001076780.1	179	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	.	.	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGACCTGG	NONE	.	.	PROSITE_profiles:PS50228,hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877,Pfam_domain:PF02140	.	.	ENSP00000337397	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000337114	Transcript	.	.	ENSG00000166473	21715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	PK1L2_HUMAN	PKD1L2	HGNC	Q6AI51_HUMAN	.	UPI0000E4C8FA	SNV	PKD1L2,missense_variant,p.Val179Asp,ENST00000337114,;PKD1L2,missense_variant,p.Val179Asp,ENST00000525539,;	536	96	31	SUCCESS
ADAD2	161931	.	GRCh37	16	84230327	84230327	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1278702392	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	23	56	0	ENST00000315906.5:c.1601T>C	p.Val534Ala	p.V534A	ENST00000315906	NM_001145400.1	534	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS10944.1	1847	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGTGGGGA	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF83,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000268624	.	10/11	.	.	.	.	.	.	.	.	COSM1493805	10/11	PASS	ENST00000268624	Transcript	.	.	ENSG00000140955	30714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.009)	.	tolerated(0.3)	1	ADAD2_HUMAN	ADAD2	HGNC	D3DUL6_HUMAN	.	UPI000013D7CA	SNV	ADAD2,missense_variant,p.Val534Ala,ENST00000315906,;ADAD2,missense_variant,p.Val616Ala,ENST00000268624,;ADAD2,downstream_gene_variant,,ENST00000567685,;RP11-486L19.2,intron_variant,,ENST00000569834,;RP11-486L19.2,intron_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000563849,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,downstream_gene_variant,,ENST00000564169,;	1940	56	23	SUCCESS
CDH15	1013	.	GRCh37	16	89246648	89246648	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	24	78	0	ENST00000289746.2:c.242G>C	p.Ser81Thr	p.S81T	ENST00000289746	NM_004933.2	81	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS10976.1	242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACAGCATCC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000289746	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.696)	.	deleterious(0)	.	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	SNV	CDH15,missense_variant,p.Ser81Thr,ENST00000289746,;CDH15,intron_variant,,ENST00000521087,;CDH15,non_coding_transcript_exon_variant,,ENST00000524089,;	307	78	34	SUCCESS
ANKRD11	29123	.	GRCh37	16	89348451	89348451	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	10	33	0	ENST00000301030.4:c.4499A>C	p.Gln1500Pro	p.Q1500P	ENST00000301030	NM_001256183.1	1500	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS32513.1	4499	RADIA|MUTECT|MUSE	.	GCTTCTGCTCG	NONE	.	.	hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Gln1500Pro,ENST00000378330,;ANKRD11,missense_variant,p.Gln1500Pro,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	4960	33	11	SUCCESS
ANKRD11	29123	.	GRCh37	16	89350278	89350278	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	34	69	0	ENST00000301030.4:c.2672A>G	p.Asp891Gly	p.D891G	ENST00000301030	NM_001256183.1	891	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS32513.1	2672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGTCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.505)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Asp891Gly,ENST00000378330,;ANKRD11,missense_variant,p.Asp891Gly,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	3133	69	37	SUCCESS
FANCA	2175	.	GRCh37	16	89865509	89865509	+	intron_variant	Intron	SNP	T	T	A	rs754716888	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	28	56	0	ENST00000389301.3:c.893+65A>T		p.*298*	ENST00000389301	NM_000135.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32515.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTTGGCTC	NONE	byFrequency	.	.	.	.	ENSP00000373952	.	.	.	.	.	.	.	.	.	.	rs754716888	.	PASS	ENST00000389301	Transcript	.	.	ENSG00000187741	3582	.	.	MODIFIER	10/42	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FANCA_HUMAN	FANCA	HGNC	H3BT53_HUMAN	.	UPI0000520A1A	SNV	FANCA,3_prime_UTR_variant,,ENST00000563673,;FANCA,intron_variant,,ENST00000389301,;FANCA,intron_variant,,ENST00000534992,;FANCA,intron_variant,,ENST00000543736,;FANCA,intron_variant,,ENST00000568369,;FANCA,intron_variant,,ENST00000389302,;FANCA,3_prime_UTR_variant,,ENST00000566409,;FANCA,intron_variant,,ENST00000567621,;FANCA,intron_variant,,ENST00000566889,;FANCA,intron_variant,,ENST00000565582,;	.	56	33	SUCCESS
DEF8	54849	.	GRCh37	16	90021593	90021593	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	9	28	0	ENST00000268676.7:c.324G>A	p.Leu108=	p.L108=	ENST00000268676	NM_207514.2	108	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10989.1	324	RADIA|MUTECT|MUSE	.	GAGCTGCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12326	.	.	ENSP00000268676	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000268676	Transcript	.	.	ENSG00000140995	25969	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEFI8_HUMAN	DEF8	HGNC	H3BT87_HUMAN,H3BRA7_HUMAN,H3BQX9_HUMAN,H3BNN0_HUMAN,H3BMP4_HUMAN	.	UPI0000359601	SNV	DEF8,synonymous_variant,p.%3D,ENST00000561959,;DEF8,synonymous_variant,p.%3D,ENST00000567884,;DEF8,synonymous_variant,p.%3D,ENST00000418391,;DEF8,synonymous_variant,p.%3D,ENST00000561741,;DEF8,synonymous_variant,p.%3D,ENST00000563594,;DEF8,synonymous_variant,p.%3D,ENST00000569061,;DEF8,synonymous_variant,p.%3D,ENST00000569453,;DEF8,synonymous_variant,p.%3D,ENST00000268676,;DEF8,synonymous_variant,p.%3D,ENST00000566820,;DEF8,synonymous_variant,p.%3D,ENST00000562578,;DEF8,synonymous_variant,p.%3D,ENST00000570182,;DEF8,synonymous_variant,p.%3D,ENST00000567999,;DEF8,synonymous_variant,p.%3D,ENST00000564836,;DEF8,synonymous_variant,p.%3D,ENST00000566079,;DEF8,synonymous_variant,p.%3D,ENST00000563795,;DEF8,5_prime_UTR_variant,,ENST00000567874,;DEF8,5_prime_UTR_variant,,ENST00000562986,;DEF8,non_coding_transcript_exon_variant,,ENST00000568096,;DEF8,non_coding_transcript_exon_variant,,ENST00000569803,;DEF8,non_coding_transcript_exon_variant,,ENST00000567243,;DEF8,upstream_gene_variant,,ENST00000562044,;DEF8,upstream_gene_variant,,ENST00000563848,;DEF8,synonymous_variant,p.%3D,ENST00000561784,;DEF8,upstream_gene_variant,,ENST00000568760,;	413	28	11	SUCCESS
MYH1	4619	.	GRCh37	17	10416941	10416941	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	36	97	0	ENST00000226207.5:c.805+2T>A		p.X269_splice	ENST00000226207	NM_005963.3	269		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11155.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCACATGT	NONE	.	.	.	.	.	ENSP00000226207	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	HIGH	9/39	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,splice_donor_variant,,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	.	97	41	SUCCESS
MYH2	4620	.	GRCh37	17	10432930	10432930	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	38	108	0	ENST00000245503.5:c.3068T>C	p.Val1023Ala	p.V1023A	ENST00000245503	NM_017534.5	1023	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS11156.1	3068	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGACTTTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF90257,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	.	.	ENSP00000245503	.	24/40	.	.	.	.	.	.	.	.	.	24/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	.	deleterious(0.05)	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,missense_variant,p.Val1023Ala,ENST00000245503,;MYH2,missense_variant,p.Val1023Ala,ENST00000397183,;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3453	108	45	SUCCESS
DNAH9	1770	.	GRCh37	17	11809030	11809030	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	29	75	0	ENST00000262442.4:c.11653G>A	p.Asp3885Asn	p.D3885N	ENST00000262442	NM_001372.3	3885	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS11160.1	11653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTAGATTTT	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000262442	.	61/69	.	.	.	.	.	.	.	.	.	61/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Asp3885Asn,ENST00000454412,;DNAH9,missense_variant,p.Asp197Asn,ENST00000608377,;DNAH9,missense_variant,p.Asp3885Asn,ENST00000262442,;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,non_coding_transcript_exon_variant,,ENST00000581682,;	11721	75	35	SUCCESS
TEKT3	64518	.	GRCh37	17	15234910	15234910	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs368111216	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	20	0	ENST00000338696.2:c.-8T>C		p.*3*	ENST00000338696				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11169.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAAACAC	NONE	.	.	.	.	.	ENSP00000379263	.	3/9	.	.	.	.	.	.	.	.	rs368111216	3/9	PASS	ENST00000395930	Transcript	.	.	ENSG00000125409	14293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEKT3_HUMAN	TEKT3	HGNC	F5H5M8_HUMAN,F5H4K1_HUMAN,F5H115_HUMAN,F5GZV8_HUMAN	.	UPI0000136BAB	SNV	TEKT3,5_prime_UTR_variant,,ENST00000539245,;TEKT3,5_prime_UTR_variant,,ENST00000338696,;TEKT3,5_prime_UTR_variant,,ENST00000539316,;TEKT3,5_prime_UTR_variant,,ENST00000395930,;TEKT3,5_prime_UTR_variant,,ENST00000536146,;TEKT3,5_prime_UTR_variant,,ENST00000543896,;TEKT3,5_prime_UTR_variant,,ENST00000395931,;TEKT3,non_coding_transcript_exon_variant,,ENST00000470325,;	180	20	14	SUCCESS
SCARF1	8578	.	GRCh37	17	1538573	1538573	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs749981648	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	36	66	0	ENST00000263071.4:c.1972A>C	p.Thr658Pro	p.T658P	ENST00000263071	NM_145350.2	658	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS11007.1	1972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTGGCTG	NONE	.	.	hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF0	.	.	ENSP00000263071	.	11/11	.	.	.	.	.	.	.	.	rs749981648	11/11	PASS	ENST00000263071	Transcript	.	.	ENSG00000074660	16820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.3)	.	SREC_HUMAN	SCARF1	HGNC	.	.	UPI00001AE868	SNV	SCARF1,missense_variant,p.Thr658Pro,ENST00000263071,;SCARF1,missense_variant,p.Thr572Pro,ENST00000348987,;SCARF1,3_prime_UTR_variant,,ENST00000571272,;SCARF1,3_prime_UTR_variant,,ENST00000434376,;SCARF1,3_prime_UTR_variant,,ENST00000573852,;SCARF1,non_coding_transcript_exon_variant,,ENST00000576012,;SCARF1,downstream_gene_variant,,ENST00000570902,;	2022	66	43	SUCCESS
CENPV	201161	.	GRCh37	17	16253335	16253335	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	107	278	0	ENST00000299736.4:c.419A>G	p.Gln140Arg	p.Q140R	ENST00000299736	NM_181716.2	140	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS32575.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCTGGTAT	NONE	.	.	.	.	.	ENSP00000299736	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000299736	Transcript	.	.	ENSG00000166582	29920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.23)	.	CENPV_HUMAN	CENPV	HGNC	.	.	UPI000015FC7D	SNV	CENPV,missense_variant,p.Gln140Arg,ENST00000299736,;CENPV,5_prime_UTR_variant,,ENST00000476243,;PIGL,downstream_gene_variant,,ENST00000581006,;PIGL,downstream_gene_variant,,ENST00000431149,;CENPV,non_coding_transcript_exon_variant,,ENST00000584214,;CENPV,non_coding_transcript_exon_variant,,ENST00000582062,;CENPV,upstream_gene_variant,,ENST00000482983,;	482	279	126	SUCCESS
TRPV2	51393	.	GRCh37	17	16332223	16332223	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	22	43	0	ENST00000338560.7:c.1514T>A	p.Leu505Gln	p.L505Q	ENST00000338560	NM_016113.4	505	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS32576.1	1514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTGGGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF5,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870	.	.	ENSP00000342222	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000338560	Transcript	.	.	ENSG00000187688	18082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRPV2_HUMAN	TRPV2	HGNC	J3QKR1_HUMAN	.	UPI0000032F4E	SNV	TRPV2,missense_variant,p.Leu75Gln,ENST00000577397,;TRPV2,missense_variant,p.Leu36Gln,ENST00000577277,;TRPV2,missense_variant,p.Leu505Gln,ENST00000338560,;TRPV2,upstream_gene_variant,,ENST00000577865,;TRPV2,upstream_gene_variant,,ENST00000580788,;TRPV2,upstream_gene_variant,,ENST00000581560,;TRPV2,non_coding_transcript_exon_variant,,ENST00000583241,;TRPV2,upstream_gene_variant,,ENST00000475513,;AC093484.4,downstream_gene_variant,,ENST00000441875,;	1913	43	26	SUCCESS
ZNF287	57336	.	GRCh37	17	16455335	16455335	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs765546175	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	72	96	0	ENST00000395824.1:c.2121T>A	p.Asn707Lys	p.N707K	ENST00000395824		707	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS11179.2	2121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCATTACA	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF201,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000379168	.	6/6	.	.	.	.	.	.	.	.	rs765546175	6/6	PASS	ENST00000395824	Transcript	.	.	ENSG00000141040	13502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.154)	.	tolerated(0.21)	.	ZN287_HUMAN	ZNF287	HGNC	C9JAV4_HUMAN	.	UPI0000200A57	SNV	ZNF287,missense_variant,p.Asn707Lys,ENST00000395824,;ZNF287,missense_variant,p.Asn707Lys,ENST00000395825,;ZNF287,downstream_gene_variant,,ENST00000498796,;	2739	96	205	SUCCESS
ZNF287	57336	.	GRCh37	17	16471157	16471157	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	14	0	ENST00000395824.1:c.-112T>G		p.*38*	ENST00000395824				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11179.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGCCGA	NONE	.	.	.	.	.	ENSP00000379168	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000395824	Transcript	.	.	ENSG00000141040	13502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN287_HUMAN	ZNF287	HGNC	C9JAV4_HUMAN	.	UPI0000200A57	SNV	ZNF287,5_prime_UTR_variant,,ENST00000395824,;ZNF287,5_prime_UTR_variant,,ENST00000448349,;ZNF287,5_prime_UTR_variant,,ENST00000395825,;ZNF287,non_coding_transcript_exon_variant,,ENST00000461555,;ZNF287,intron_variant,,ENST00000578303,;ZNF287,upstream_gene_variant,,ENST00000498796,;	507	14	26	SUCCESS
TNFRSF13B	23495	.	GRCh37	17	16852254	16852254	+	synonymous_variant	Silent	SNP	A	A	G	rs1227980908	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	75	1	ENST00000261652.2:c.243T>C	p.His81=	p.H81=	ENST00000261652	NM_012452.2	81	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS11181.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGATGGTC	NONE	.	.	hmmpanther:PTHR15511,hmmpanther:PTHR15511:SF2,Pfam_domain:PF09305,Superfamily_domains:SSF57586	.	.	ENSP00000261652	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000261652	Transcript	.	.	ENSG00000240505	18153	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR13B_HUMAN	TNFRSF13B	HGNC	Q4ACX1_HUMAN	.	UPI00000347FC	SNV	TNFRSF13B,synonymous_variant,p.%3D,ENST00000261652,;TNFRSF13B,synonymous_variant,p.%3D,ENST00000583789,;TNFRSF13B,synonymous_variant,p.%3D,ENST00000437538,;TNFRSF13B,synonymous_variant,p.%3D,ENST00000579315,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000581616,;TNFRSF13B,synonymous_variant,p.%3D,ENST00000584950,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000582931,;	256	76	91	SUCCESS
FBXW10	10517	.	GRCh37	17	18653220	18653220	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	100	437	0	ENST00000395665.4:c.856T>C	p.Ser286Pro	p.S286P	ENST00000395665		286	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS11199.3	856	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTCCAAG	NONE	.	.	hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	.	.	ENSP00000379025	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000395665	Transcript	.	.	ENSG00000171931	1211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.585)	.	deleterious(0)	.	FBW10_HUMAN	FBXW10	HGNC	.	.	UPI0000200B30	SNV	FBXW10,missense_variant,p.Ser286Pro,ENST00000301938,;FBXW10,missense_variant,p.Ser286Pro,ENST00000308799,;FBXW10,missense_variant,p.Ser286Pro,ENST00000395667,;FBXW10,missense_variant,p.Ser286Pro,ENST00000395665,;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	1077	437	307	SUCCESS
MAPK7	5598	.	GRCh37	17	19286534	19286534	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	56	0	ENST00000308406.5:c.2441A>T	p.Gln814Leu	p.Q814L	ENST00000308406	NM_139033.2	814	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS11206.1	2441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGGACC	NONE	.	.	.	.	.	ENSP00000311005	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000308406	Transcript	.	.	ENSG00000166484	6880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	deleterious_low_confidence(0.02)	.	MK07_HUMAN	MAPK7	HGNC	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN	.	UPI000006FED0	SNV	MAPK7,missense_variant,p.Gln814Leu,ENST00000395602,;MAPK7,missense_variant,p.Gln814Leu,ENST00000395604,;MAPK7,missense_variant,p.Gln814Leu,ENST00000308406,;MAPK7,missense_variant,p.Gln675Leu,ENST00000299612,;MFAP4,downstream_gene_variant,,ENST00000395592,;MAPK7,downstream_gene_variant,,ENST00000603493,;MFAP4,downstream_gene_variant,,ENST00000299610,;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;MAPK7,downstream_gene_variant,,ENST00000579284,;MFAP4,downstream_gene_variant,,ENST00000497081,;MAPK7,non_coding_transcript_exon_variant,,ENST00000571657,;MAPK7,downstream_gene_variant,,ENST00000572968,;MAPK7,downstream_gene_variant,,ENST00000573417,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000486905,;MFAP4,downstream_gene_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000572716,;MAPK7,downstream_gene_variant,,ENST00000572853,;	2827	56	33	SUCCESS
USP22	23326	.	GRCh37	17	20919135	20919135	+	synonymous_variant	Silent	SNP	T	T	A	rs746617362	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	43	0	ENST00000261497.4:c.768A>T	p.Ala256=	p.A256=	ENST00000261497	NM_015276.1	256	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42285.1	768	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCTGCTAG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF347,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000261497	.	6/13	.	.	.	.	.	.	.	.	rs746617362	6/13	PASS	ENST00000261497	Transcript	.	.	ENSG00000124422	12621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP22_HUMAN	USP22	HGNC	Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN	.	UPI00001C1FC6	SNV	USP22,synonymous_variant,p.%3D,ENST00000261497,;USP22,synonymous_variant,p.%3D,ENST00000537526,;USP22,intron_variant,,ENST00000582335,;USP22,downstream_gene_variant,,ENST00000476111,;USP22,downstream_gene_variant,,ENST00000584538,;USP22,non_coding_transcript_exon_variant,,ENST00000577610,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;USP22,upstream_gene_variant,,ENST00000478443,;	972	43	39	SUCCESS
KCNJ12	3768	.	GRCh37	17	21319679	21319679	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	77	0	ENST00000331718.5:c.1025A>G	p.Tyr342Cys	p.Y342C	ENST00000331718	NM_001194958.2	342	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11219.1	1025	MUTECT|MUSE	.	TGACTACTCGC	BUFFER|p.S343L|c.1028C>T|3,BUFFER|p.S343S|c.1029G>A|4	.	.	Prints_domain:PR01320,Prints_domain:PR01325,Superfamily_domains:SSF81296,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,missense_variant,p.Tyr342Cys,ENST00000331718,;KCNJ12,missense_variant,p.Tyr342Cys,ENST00000583088,;	1920	77	63	SUCCESS
NLK	51701	.	GRCh37	17	26499544	26499544	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	68	0	ENST00000407008.3:c.1049T>A	p.Leu350Ter	p.L350*	ENST00000407008	NM_016231.4	350	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS11224.2	1049	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTTGGATT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF179,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000384625	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000407008	Transcript	.	.	ENSG00000087095	29858	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLK_HUMAN	NLK	HGNC	H0YD75_HUMAN	.	UPI0000D48A70	SNV	NLK,stop_gained,p.Leu350Ter,ENST00000407008,;NLK,splice_region_variant,,ENST00000584188,;NLK,stop_gained,p.Leu298Ter,ENST00000496808,;AC100852.2,upstream_gene_variant,,ENST00000366300,;	1767	68	56	SUCCESS
OR1D5	8386	.	GRCh37	17	2966603	2966603	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	66	220	0	ENST00000575751.1:c.299A>G	p.Gln100Arg	p.Q100R	ENST00000575751	NM_014566.1	100	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS58499.1	299	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTGTGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF285,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000459028	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000575751	Transcript	.	.	ENSG00000262628	8186	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.571)	.	deleterious(0)	.	OR1D5_HUMAN	OR1D5	HGNC	Q6IFL7_HUMAN	.	UPI0000041B11	SNV	OR1D5,missense_variant,p.Gln100Arg,ENST00000575751,;	299	220	88	SUCCESS
OR1D2	4991	.	GRCh37	17	2996103	2996103	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	85	161	0	ENST00000331459.1:c.188T>A	p.Leu63Gln	p.L63Q	ENST00000331459	NM_002548.2	63	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11019.1	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGGAAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF176,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000327585	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331459	Transcript	.	.	ENSG00000184166	8183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	deleterious(0)	.	OR1D2_HUMAN	OR1D2	HGNC	.	.	UPI000013F064	SNV	OR1D2,missense_variant,p.Leu63Gln,ENST00000331459,;	188	161	103	SUCCESS
OR1A2	26189	.	GRCh37	17	3100889	3100889	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	34	92	0	ENST00000381951.1:c.77T>A	p.Val26Asp	p.V26D	ENST00000381951	NM_012352.1	26	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS11021.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGTCTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF319,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000371377	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381951	Transcript	.	.	ENSG00000172150	8180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious(0.01)	.	OR1A2_HUMAN	OR1A2	HGNC	.	.	UPI0000041E56	SNV	OR1A2,missense_variant,p.Val26Asp,ENST00000381951,;	77	92	47	SUCCESS
CCL2	6347	.	GRCh37	17	32583296	32583296	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	47	0	ENST00000225831.4:c.132A>G	p.Ser44=	p.S44=	ENST00000225831	NM_002982.3	44	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11277.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCAGTGCA	NONE	.	.	hmmpanther:PTHR12015:SF78,hmmpanther:PTHR12015,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117	.	.	ENSP00000225831	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000225831	Transcript	.	.	ENSG00000108691	10618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCL2_HUMAN	CCL2	HGNC	Q6UZ82_HUMAN	.	UPI0000000DC9	SNV	CCL2,synonymous_variant,p.%3D,ENST00000225831,;CCL2,synonymous_variant,p.%3D,ENST00000580907,;AC005549.3,upstream_gene_variant,,ENST00000601918,;CCL2,non_coding_transcript_exon_variant,,ENST00000582017,;	197	47	34	SUCCESS
CCL11	6356	.	GRCh37	17	32612882	32612882	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762114278	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	20	42	0	ENST00000305869.3:c.55C>A	p.Pro19Thr	p.P19T	ENST00000305869	NM_002986.2	19	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS11279.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCCCCCAG	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF84	.	.	ENSP00000302234	.	1/3	.	.	.	.	.	.	.	.	rs762114278	1/3	PASS	ENST00000305869	Transcript	.	.	ENSG00000172156	10610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	CCL11_HUMAN	CCL11	HGNC	Q6I9T4_HUMAN	.	UPI0000050AFD	SNV	CCL11,missense_variant,p.Pro19Thr,ENST00000305869,;	196	42	41	SUCCESS
RAD51D	5892	.	GRCh37	17	33434032	33434032	+	intron_variant	Intron	SNP	G	G	T	rs767981911	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	60	0	ENST00000335858.7:c.145-532C>A		p.*49*	ENST00000335858	NM_133629.2			0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS45646.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTAGCCTGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50162,hmmpanther:PTHR22942:SF8,hmmpanther:PTHR22942,Gene3D:3.40.50.300,Pfam_domain:PF13481,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000466399	.	5/10	.	.	.	.	.	.	.	.	rs767981911	5/10	PASS	ENST00000590016	Transcript	.	.	ENSG00000185379	9823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	.	deleterious(0)	.	RA51D_HUMAN	RAD51D	HGNC	Q7Z790_HUMAN,K7EMF1_HUMAN,K7EJ58_HUMAN,H0UID0_HUMAN	.	UPI0000EE7634	SNV	RAD51D,missense_variant,p.Ala172Asp,ENST00000590016,;RAD51L3-RFFL,missense_variant,p.Ala33Asp,ENST00000592181,;RAD51D,missense_variant,p.Ala33Asp,ENST00000587405,;RAD51D,missense_variant,p.Ala154Asp,ENST00000592577,;RAD51D,missense_variant,p.Ala33Asp,ENST00000460118,;RAD51D,missense_variant,p.Ala152Asp,ENST00000394589,;RAD51D,missense_variant,p.Ala152Asp,ENST00000345365,;RAD51L3-RFFL,intron_variant,,ENST00000591723,;RAD51D,intron_variant,,ENST00000360276,;RAD51D,intron_variant,,ENST00000335858,;RAD51D,intron_variant,,ENST00000590631,;RAD51L3-RFFL,intron_variant,,ENST00000593039,;RAD51D,non_coding_transcript_exon_variant,,ENST00000590380,;RAD51D,non_coding_transcript_exon_variant,,ENST00000415064,;RAD51D,non_coding_transcript_exon_variant,,ENST00000592430,;RAD51D,intron_variant,,ENST00000587982,;RAD51D,intron_variant,,ENST00000585982,;RAD51D,missense_variant,p.Ala33Asp,ENST00000588372,;RAD51D,3_prime_UTR_variant,,ENST00000587977,;RAD51D,3_prime_UTR_variant,,ENST00000586210,;RAD51D,3_prime_UTR_variant,,ENST00000586044,;RAD51D,3_prime_UTR_variant,,ENST00000585343,;RAD51D,non_coding_transcript_exon_variant,,ENST00000585947,;RAD51D,intron_variant,,ENST00000586186,;RAD51D,intron_variant,,ENST00000588594,;RAD51D,intron_variant,,ENST00000592850,;RAD51D,intron_variant,,ENST00000592928,;RAD51D,downstream_gene_variant,,ENST00000589506,;	715	60	41	SUCCESS
NLE1	54475	.	GRCh37	17	33462285	33462285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	100	0	ENST00000442241.4:c.1197G>T	p.Trp399Cys	p.W399C	ENST00000442241	NM_001014445.1	399	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS11291.1	1197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCCACAG	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19848:SF0,hmmpanther:PTHR19848,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000413572	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000442241	Transcript	.	.	ENSG00000073536	19889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NLE1_HUMAN	NLE1	HGNC	K7ERN7_HUMAN	.	UPI000013D293	SNV	NLE1,missense_variant,p.Trp107Cys,ENST00000586869,;NLE1,missense_variant,p.Trp399Cys,ENST00000442241,;NLE1,missense_variant,p.Trp357Cys,ENST00000360831,;NLE1,missense_variant,p.Trp179Cys,ENST00000588019,;FNDC8,downstream_gene_variant,,ENST00000158009,;NLE1,downstream_gene_variant,,ENST00000593176,;NLE1,downstream_gene_variant,,ENST00000589367,;NLE1,downstream_gene_variant,,ENST00000588642,;	1237	100	84	SUCCESS
UNC45B	146862	.	GRCh37	17	33495163	33495163	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	108	0	ENST00000268876.5:c.1235T>A	p.Leu412Gln	p.L412Q	ENST00000268876	NM_173167.2	412	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11292.1	1235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTGGGCA	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Pfam_domain:PF11701,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Leu412Gln,ENST00000378449,;UNC45B,missense_variant,p.Leu412Gln,ENST00000433649,;UNC45B,missense_variant,p.Leu412Gln,ENST00000268876,;UNC45B,missense_variant,p.Leu412Gln,ENST00000591048,;UNC45B,missense_variant,p.Leu412Gln,ENST00000394570,;RP11-799D4.3,upstream_gene_variant,,ENST00000585646,;	1332	108	97	SUCCESS
CCL18	6362	.	GRCh37	17	34398401	34398401	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	66	141	0	ENST00000004921.3:c.270A>T	p.Ter90CysextTer35	p.*90Cext*35	ENST00000004921	NM_002988.2	90	tgA/tgT	0	.	.	.	.	.	T	*/C	protein_coding	YES	CCDS11306.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGAGGGGC	NONE	.	.	.	.	.	ENSP00000004921	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000004921	Transcript	.	.	ENSG00000006074	10616	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCL18_HUMAN	CCL18	HGNC	.	.	UPI00001362DA	SNV	CCL18,stop_lost,p.Ter90CysextTer35,ENST00000004921,;AC069363.1,upstream_gene_variant,,ENST00000588864,;AC069363.1,upstream_gene_variant,,ENST00000590992,;CCL18,non_coding_transcript_exon_variant,,ENST00000586857,;	333	141	120	SUCCESS
GPR179	440435	.	GRCh37	17	36485679	36485679	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	42	0	ENST00000342292.4:c.3773G>T	p.Ser1258Ile	p.S1258I	ENST00000342292	NM_001004334.2	1258	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS42308.1	3773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCACTGTCT	NONE	.	.	hmmpanther:PTHR32546:SF7,hmmpanther:PTHR32546	.	.	ENSP00000345060	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000342292	Transcript	.	.	ENSG00000188888	31371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.01)	.	GP179_HUMAN	GPR179	HGNC	.	.	UPI000041A9C2	SNV	GPR179,missense_variant,p.Ser1258Ile,ENST00000342292,;GPR179,upstream_gene_variant,,ENST00000584976,;	3794	42	42	SUCCESS
PCGF2	7703	.	GRCh37	17	36891668	36891668	+	synonymous_variant	Silent	SNP	G	G	T	rs1226495029	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	45	0	ENST00000580830.1:c.843C>A	p.Thr281=	p.T281=	ENST00000580830		281	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32638.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGGGTGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10825:SF22,hmmpanther:PTHR10825	.	.	ENSP00000461961	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000580830	Transcript	.	.	ENSG00000056661	12929	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCGF2_HUMAN	PCGF2	HGNC	.	.	UPI0000001279	SNV	PCGF2,synonymous_variant,p.%3D,ENST00000581345,;PCGF2,synonymous_variant,p.%3D,ENST00000360797,;PCGF2,synonymous_variant,p.%3D,ENST00000580830,;PCGF2,3_prime_UTR_variant,,ENST00000578109,;PCGF2,3_prime_UTR_variant,,ENST00000579882,;PCGF2,3_prime_UTR_variant,,ENST00000585100,;PCGF2,intron_variant,,ENST00000578487,;CISD3,downstream_gene_variant,,ENST00000439660,;RNA5SP440,upstream_gene_variant,,ENST00000363245,;CISD3,downstream_gene_variant,,ENST00000578573,;CISD3,downstream_gene_variant,,ENST00000581668,;	1545	45	53	SUCCESS
IGFBP4	3487	.	GRCh37	17	38612731	38612731	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	111	1	ENST00000269593.4:c.673A>G	p.Lys225Glu	p.K225E	ENST00000269593	NM_001552.2	225	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS11367.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAAGTGC	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF7,Gene3D:4.10.800.10,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610,Prints_domain:PR01976	.	.	ENSP00000269593	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000269593	Transcript	.	.	ENSG00000141753	5473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.1)	.	IBP4_HUMAN	IGFBP4	HGNC	B4E351_HUMAN	.	UPI0000035977	SNV	IGFBP4,missense_variant,p.Lys225Glu,ENST00000269593,;IGFBP4,missense_variant,p.Lys125Glu,ENST00000542955,;	948	112	75	SUCCESS
CCR7	1236	.	GRCh37	17	38721654	38721654	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	63	0	ENST00000246657.2:c.8T>A	p.Leu3Gln	p.L3Q	ENST00000246657	NM_001838.3	3	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11369.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAGGTCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF29,Prints_domain:PR00641	.	.	ENSP00000246657	.	1/3	.	.	.	.	.	.	.	.	COSM1479534	1/3	PASS	ENST00000246657	Transcript	.	.	ENSG00000126353	1608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.053)	.	tolerated_low_confidence(0.5)	1	CCR7_HUMAN	CCR7	HGNC	J3KTN5_HUMAN,J3KSS9_HUMAN,A0N0Q0_HUMAN	.	UPI0000001C2F	SNV	CCR7,missense_variant,p.Leu3Gln,ENST00000246657,;CCR7,splice_region_variant,,ENST00000578085,;CCR7,upstream_gene_variant,,ENST00000579344,;	71	63	54	SUCCESS
KRT24	192666	.	GRCh37	17	38855854	38855854	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	66	0	ENST00000264651.2:c.1203A>G	p.Ser401=	p.S401=	ENST00000264651	NM_019016.2	401	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS11372.1	1203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTGACAG	NONE	.	.	hmmpanther:PTHR23239:SF101,hmmpanther:PTHR23239,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	.	ENSP00000264651	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000264651	Transcript	.	.	ENSG00000167916	18527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C24_HUMAN	KRT24	HGNC	.	.	UPI000013D54D	SNV	KRT24,synonymous_variant,p.%3D,ENST00000264651,;	1260	66	67	SUCCESS
KRT40	125115	.	GRCh37	17	39137242	39137242	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	46	77	0	ENST00000377755.4:c.849G>A		p.X283_splice	ENST00000377755		283	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS42320.1	849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACCTGAAC	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF90,hmmpanther:PTHR23239	.	.	ENSP00000366984	.	4/7	.	.	.	.	.	.	.	.	COSM3691536	4/7	PASS	ENST00000377755	Transcript	.	.	ENSG00000204889	26707	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	K1C40_HUMAN	KRT40	HGNC	.	.	UPI00003B288A	SNV	KRT40,synonymous_variant,p.%3D,ENST00000377755,;KRT40,synonymous_variant,p.%3D,ENST00000398486,;KRT40,splice_region_variant,,ENST00000461923,;	884	77	96	SUCCESS
KRT40	125115	.	GRCh37	17	39140425	39140425	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs778299296	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	100	0	ENST00000377755.4:c.101T>A	p.Leu34His	p.L34H	ENST00000377755		34	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS42320.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGAGACAA	NONE	.	.	hmmpanther:PTHR23239:SF90,hmmpanther:PTHR23239	.	.	ENSP00000366984	.	1/7	.	.	.	.	.	.	.	.	rs778299296	1/7	PASS	ENST00000377755	Transcript	.	.	ENSG00000204889	26707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	tolerated(0.39)	.	K1C40_HUMAN	KRT40	HGNC	.	.	UPI00003B288A	SNV	KRT40,missense_variant,p.Leu34His,ENST00000377755,;KRT40,missense_variant,p.Leu34His,ENST00000398486,;KRT40,missense_variant,p.Leu34His,ENST00000461923,;	136	100	76	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39274321	39274321	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	13	0	ENST00000391413.2:c.247A>G	p.Ser83Gly	p.S83G	ENST00000391413	NM_033059.3	83	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS45675.1	247	RADIA|VARSCANS	.	GCAGCTGGACA	CODON|p.S83R|c.249C>G|6,BUFFER|p.K86R|c.257A>G|8	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.03)	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,missense_variant,p.Ser83Gly,ENST00000391413,;	286	13	27	SUCCESS
KRTAP4-5	85289	.	GRCh37	17	39305759	39305759	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	19	0	ENST00000343246.4:c.261G>T	p.Arg87Ser	p.R87S	ENST00000343246	NM_033188.3	87	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS32650.1	261	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTCCTGCA	BUFFER|p.T84S|c.251C>G|6	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF12,hmmpanther:PTHR23262	.	.	ENSP00000340546	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343246	Transcript	.	.	ENSG00000198271	18899	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	KRA45_HUMAN	KRTAP4-5	HGNC	.	.	UPI0000456AA3	SNV	KRTAP4-5,missense_variant,p.Arg87Ser,ENST00000343246,;	296	19	22	SUCCESS
KRTAP9-9	81870	.	GRCh37	17	39411764	39411764	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	48	0	ENST00000394008.1:c.127T>A	p.Cys43Ser	p.C43S	ENST00000394008	NM_030975.2	43	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS54127.1	127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF36,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000377576	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394008	Transcript	.	.	ENSG00000198083	16773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	.	KRTAP9-9	HGNC	B5MDD6_HUMAN	.	UPI00002264BA	SNV	KRTAP9-9,missense_variant,p.Cys43Ser,ENST00000394008,;KRTAP9-4,downstream_gene_variant,,ENST00000334109,;	129	48	34	SUCCESS
KRT32	3882	.	GRCh37	17	39619248	39619248	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	36	65	0	ENST00000225899.3:c.1051C>G	p.Leu351Val	p.L351V	ENST00000225899	NM_002278.3	351	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS11393.1	1051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGCTGGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	.	ENSP00000225899	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000225899	Transcript	.	.	ENSG00000108759	6449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	K1H2_HUMAN	KRT32	HGNC	.	.	UPI000013C883	SNV	KRT32,missense_variant,p.Leu351Val,ENST00000225899,;RNU2-32P,upstream_gene_variant,,ENST00000411193,;	1155	65	68	SUCCESS
KRT35	3886	.	GRCh37	17	39635633	39635633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	85	0	ENST00000393989.1:c.677A>G	p.Glu226Gly	p.E226G	ENST00000393989	NM_002280.4	226	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS11394.2	677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTCCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF109,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000377558	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000393989	Transcript	.	.	ENSG00000197079	6453	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.709)	.	deleterious(0.01)	.	KRT35_HUMAN	KRT35	HGNC	C4AM86_HUMAN	.	UPI0000D74C4B	SNV	KRT35,missense_variant,p.Glu196Gly,ENST00000246639,;KRT35,missense_variant,p.Glu226Gly,ENST00000393989,;	720	86	98	SUCCESS
KRT15	3866	.	GRCh37	17	39673060	39673060	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	40	0	ENST00000254043.3:c.738G>T	p.Glu246Asp	p.E246D	ENST00000254043	NM_002275.3	246	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS11398.1	738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACCTCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF164,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF46579	.	.	ENSP00000254043	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000254043	Transcript	.	.	ENSG00000171346	6421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.308)	.	deleterious(0)	.	K1C15_HUMAN	KRT15	HGNC	.	.	UPI000013CE0E	SNV	KRT15,missense_variant,p.Glu246Asp,ENST00000393976,;KRT15,missense_variant,p.Glu246Asp,ENST00000254043,;KRT15,missense_variant,p.Glu81Asp,ENST00000393981,;KRT15,missense_variant,p.Glu81Asp,ENST00000393974,;KRT15,missense_variant,p.Glu81Asp,ENST00000458290,;KRT15,splice_region_variant,,ENST00000497016,;KRT15,splice_region_variant,,ENST00000463447,;KRT15,splice_region_variant,,ENST00000474031,;KRT15,3_prime_UTR_variant,,ENST00000470004,;KRT15,upstream_gene_variant,,ENST00000586794,;	4324	40	37	SUCCESS
KRT9	3857	.	GRCh37	17	39728014	39728014	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	49	149	0	ENST00000246662.4:c.231T>C	p.Ser77=	p.S77=	ENST00000246662	NM_000226.3	77	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS32654.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCAGATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96	.	.	ENSP00000246662	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000246662	Transcript	.	.	ENSG00000171403	6447	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C9_HUMAN	KRT9	HGNC	K7EQQ3_HUMAN	.	UPI00001AE6F7	SNV	KRT9,synonymous_variant,p.%3D,ENST00000246662,;KRT9,intron_variant,,ENST00000588431,;	297	149	138	SUCCESS
GHDC	84514	.	GRCh37	17	40345476	40345476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	28	0	ENST00000301671.8:c.124G>T	p.Gly42Trp	p.G42W	ENST00000301671		42	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS11422.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCCCCATG	NONE	.	.	hmmpanther:PTHR31901,hmmpanther:PTHR31901:SF5	.	.	ENSP00000301671	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000301671	Transcript	.	.	ENSG00000167925	24438	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	tolerated(0.06)	.	GHDC_HUMAN	GHDC	HGNC	K7EQ41_HUMAN,K7EL54_HUMAN	.	UPI000006E533	SNV	GHDC,missense_variant,p.Gly42Trp,ENST00000414034,;GHDC,missense_variant,p.Gly42Trp,ENST00000590249,;GHDC,missense_variant,p.Gly42Trp,ENST00000436923,;GHDC,missense_variant,p.Gly42Trp,ENST00000428494,;GHDC,missense_variant,p.Gly42Trp,ENST00000587427,;GHDC,missense_variant,p.Gly42Trp,ENST00000301671,;GHDC,missense_variant,p.Gly42Trp,ENST00000588352,;GHDC,missense_variant,p.Gly42Trp,ENST00000593209,;GHDC,non_coding_transcript_exon_variant,,ENST00000590520,;GHDC,non_coding_transcript_exon_variant,,ENST00000586692,;GHDC,missense_variant,p.Gly42Trp,ENST00000588762,;GHDC,non_coding_transcript_exon_variant,,ENST00000585375,;GHDC,upstream_gene_variant,,ENST00000585735,;	566	28	26	SUCCESS
AOC3	8639	.	GRCh37	17	41004309	41004309	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs768212149,rs438287	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	41	0	ENST00000308423.2:c.949T>A	p.Tyr317Asn	p.Y317N	ENST00000308423	NM_003734.3	317	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS11444.1	949	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTATCCC	NONE	byFrequency|suspect	.	Superfamily_domains:SSF49998,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF23	.	.	ENSP00000312326	.	1/4	.	.	.	.	.	.	.	.	rs768212149,rs438287	1/4	PASS	ENST00000308423	Transcript	.	.	ENSG00000131471	550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.207)	.	tolerated(0.06)	.	AOC3_HUMAN	AOC3	HGNC	Q9UEU7_HUMAN,K7ESB3_HUMAN,K7EQZ5_HUMAN,K7EL47_HUMAN	.	UPI00000009FC	SNV	AOC3,missense_variant,p.Tyr317Asn,ENST00000308423,;AOC3,upstream_gene_variant,,ENST00000591562,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC2,downstream_gene_variant,,ENST00000253799,;AOC3,upstream_gene_variant,,ENST00000592999,;AOC2,downstream_gene_variant,,ENST00000452774,;AOC3,upstream_gene_variant,,ENST00000587330,;	1109	41	51	SUCCESS
NBR1	4077	.	GRCh37	17	41341610	41341610	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	47	109	0	ENST00000341165.6:c.486A>T	p.Arg162Ser	p.R162S	ENST00000341165	NM_031862.2	162	agA/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS45694.1	486	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGAGAACA	NONE	.	.	hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,missense_variant,p.Arg162Ser,ENST00000422280,;NBR1,missense_variant,p.Arg162Ser,ENST00000589872,;NBR1,missense_variant,p.Arg162Ser,ENST00000389312,;NBR1,missense_variant,p.Arg141Ser,ENST00000542611,;NBR1,missense_variant,p.Arg162Ser,ENST00000341165,;NBR1,missense_variant,p.Arg162Ser,ENST00000590996,;NBR1,upstream_gene_variant,,ENST00000585505,;	945	109	93	SUCCESS
NBR1	4077	.	GRCh37	17	41352594	41352594	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	70	196	0	ENST00000341165.6:c.2437G>C	p.Glu813Gln	p.E813Q	ENST00000341165	NM_031862.2	813	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS45694.1	2437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGAGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.186)	.	tolerated(0.13)	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,missense_variant,p.Glu813Gln,ENST00000422280,;NBR1,missense_variant,p.Glu813Gln,ENST00000589872,;NBR1,missense_variant,p.Glu813Gln,ENST00000389312,;NBR1,missense_variant,p.Glu792Gln,ENST00000542611,;NBR1,missense_variant,p.Glu813Gln,ENST00000341165,;NBR1,missense_variant,p.Glu813Gln,ENST00000590996,;NBR1,downstream_gene_variant,,ENST00000585505,;	2896	196	166	SUCCESS
FZD2	2535	.	GRCh37	17	42635241	42635241	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	75	0	ENST00000315323.3:c.185G>T	p.Gly62Val	p.G62V	ENST00000315323	NM_001466.3	62	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS11484.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGCCACA	NONE	.	.	PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF34,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	.	.	ENSP00000323901	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315323	Transcript	.	.	ENSG00000180340	4040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.943)	.	deleterious(0)	.	FZD2_HUMAN	FZD2	HGNC	Q86UZ8_HUMAN	.	UPI0000050444	SNV	FZD2,missense_variant,p.Gly62Val,ENST00000315323,;	317	75	62	SUCCESS
C17orf104	0	.	GRCh37	17	42750732	42750732	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	47	0	ENST00000409122.2:c.2458-2A>C		p.X820_splice	ENST00000409122	NM_001145080.2	820		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45703.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCAGGTTG	NONE	.	.	.	.	.	ENSP00000386452	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409122	Transcript	.	.	ENSG00000180336	26670	.	.	HIGH	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ104_HUMAN	C17orf104	HGNC	C9JYK8_HUMAN,C9J4A2_HUMAN	.	UPI0001881A86	SNV	C17orf104,splice_acceptor_variant,,ENST00000409122,;CCDC43,3_prime_UTR_variant,,ENST00000588687,;CCDC43,downstream_gene_variant,,ENST00000457422,;CCDC43,downstream_gene_variant,,ENST00000315286,;C17orf104,downstream_gene_variant,,ENST00000359945,;CCDC43,downstream_gene_variant,,ENST00000588210,;C17orf104,downstream_gene_variant,,ENST00000409464,;RP11-1072C15.4,downstream_gene_variant,,ENST00000591628,;C17orf104,upstream_gene_variant,,ENST00000588805,;C17orf104,splice_acceptor_variant,,ENST00000472403,;	.	47	58	SUCCESS
CCDC103	388389	.	GRCh37	17	42979908	42979908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	78	0	ENST00000410006.2:c.452T>A	p.Leu151Gln	p.L151Q	ENST00000410006	NM_001258395.1	151	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS11490.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACTGGCTG	NONE	.	.	Pfam_domain:PF13877	.	.	ENSP00000391692	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000417826	Transcript	.	.	ENSG00000167131	32700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CC103_HUMAN	CCDC103	HGNC	J3KSE5_HUMAN,F8W6J8_HUMAN	.	UPI0000074564	SNV	CCDC103,missense_variant,p.Leu151Gln,ENST00000417826,;CCDC103,missense_variant,p.Leu151Gln,ENST00000357776,;CCDC103,missense_variant,p.Leu151Gln,ENST00000410006,;FAM187A,5_prime_UTR_variant,,ENST00000331733,;FAM187A,intron_variant,,ENST00000412523,;EFTUD2,upstream_gene_variant,,ENST00000592576,;CCDC103,downstream_gene_variant,,ENST00000410027,;GFAP,downstream_gene_variant,,ENST00000253408,;EFTUD2,upstream_gene_variant,,ENST00000402521,;EFTUD2,upstream_gene_variant,,ENST00000591382,;EFTUD2,upstream_gene_variant,,ENST00000426333,;CCDC103,downstream_gene_variant,,ENST00000577339,;EFTUD2,upstream_gene_variant,,ENST00000592701,;EFTUD2,upstream_gene_variant,,ENST00000593072,;GFAP,downstream_gene_variant,,ENST00000588735,;AC015936.3,downstream_gene_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000592065,;EFTUD2,upstream_gene_variant,,ENST00000589825,;EFTUD2,upstream_gene_variant,,ENST00000590105,;GFAP,downstream_gene_variant,,ENST00000589701,;GFAP,downstream_gene_variant,,ENST00000585543,;EFTUD2,upstream_gene_variant,,ENST00000592408,;	547	78	52	SUCCESS
HOXB6	3216	.	GRCh37	17	46675506	46675506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	65	0	ENST00000225648.3:c.7T>A	p.Ser3Thr	p.S3T	ENST00000225648	NM_018952.4	3	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS11531.1	7	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGAACTCA	NONE	.	.	hmmpanther:PTHR24326:SF89,hmmpanther:PTHR24326	.	.	ENSP00000420009	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000484302	Transcript	.	.	ENSG00000108511	5117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0)	.	HXB6_HUMAN	HOXB6	HGNC	.	.	UPI000013C877	SNV	HOXB6,missense_variant,p.Ser3Thr,ENST00000225648,;HOXB6,missense_variant,p.Ser3Thr,ENST00000484302,;HOXB5,upstream_gene_variant,,ENST00000239151,;HOXB-AS3,intron_variant,,ENST00000481995,;HOXB-AS3,intron_variant,,ENST00000487849,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000466037,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000460041,;HOXB-AS3,intron_variant,,ENST00000477144,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000429755,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,intron_variant,,ENST00000474324,;HOXB-AS3,intron_variant,,ENST00000492897,;HOXB-AS3,upstream_gene_variant,,ENST00000491264,;HOXB-AS3,upstream_gene_variant,,ENST00000494420,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000490419,;HOXB6,upstream_gene_variant,,ENST00000470193,;	630	65	63	SUCCESS
HOXB13	10481	.	GRCh37	17	46806111	46806111	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	18	0	ENST00000290295.7:c.-156T>C		p.*52*	ENST00000290295	NM_006361.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGAGACGC	NONE	.	.	.	.	.	ENSP00000290295	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000290295	Transcript	.	.	ENSG00000159184	5112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXB13_HUMAN	HOXB13	HGNC	.	.	UPI000006F288	SNV	HOXB13,5_prime_UTR_variant,,ENST00000290295,;CTD-2377D24.4,upstream_gene_variant,,ENST00000495536,;MIR3185,upstream_gene_variant,,ENST00000583892,;PRAC2,downstream_gene_variant,,ENST00000432056,;PRAC2,downstream_gene_variant,,ENST00000422730,;	430	18	18	SUCCESS
SPOP	8405	.	GRCh37	17	47679227	47679227	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	33	93	0	ENST00000347630.2:c.980A>G	p.Tyr327Cys	p.Y327C	ENST00000347630	NM_001007230.1	327	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11551.1	980	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACTAGTTG	NONE	.	.	hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97	.	.	ENSP00000377004	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000393331	Transcript	.	.	ENSG00000121067	11254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.18)	.	SPOP_HUMAN	SPOP	HGNC	D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN	.	UPI0000003F5C	SNV	SPOP,missense_variant,p.Tyr327Cys,ENST00000503676,;SPOP,missense_variant,p.Tyr327Cys,ENST00000393331,;SPOP,missense_variant,p.Tyr327Cys,ENST00000393328,;SPOP,missense_variant,p.Tyr327Cys,ENST00000504102,;SPOP,missense_variant,p.Tyr327Cys,ENST00000347630,;SPOP,splice_region_variant,,ENST00000577134,;SPOP,non_coding_transcript_exon_variant,,ENST00000507551,;SPOP,upstream_gene_variant,,ENST00000572686,;	1451	93	70	SUCCESS
SPOP	8405	.	GRCh37	17	47699405	47699405	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	53	141	0	ENST00000347630.2:c.103A>T	p.Met35Leu	p.M35L	ENST00000347630	NM_001007230.1	35	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS11551.1	103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATGTAGG	NONE	.	.	PROSITE_profiles:PS50144,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97,Gene3D:2.60.210.10,Superfamily_domains:SSF49599	.	.	ENSP00000377004	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000393331	Transcript	.	.	ENSG00000121067	11254	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.38)	.	SPOP_HUMAN	SPOP	HGNC	D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN	.	UPI0000003F5C	SNV	SPOP,missense_variant,p.Met35Leu,ENST00000514121,;SPOP,missense_variant,p.Met35Leu,ENST00000393331,;SPOP,missense_variant,p.Met35Leu,ENST00000504102,;SPOP,missense_variant,p.Met35Leu,ENST00000509079,;SPOP,missense_variant,p.Met35Leu,ENST00000393328,;SPOP,missense_variant,p.Met35Leu,ENST00000507970,;SPOP,missense_variant,p.Met35Leu,ENST00000347630,;SPOP,missense_variant,p.Met35Leu,ENST00000505581,;SPOP,missense_variant,p.Met35Leu,ENST00000508805,;SPOP,missense_variant,p.Met35Leu,ENST00000515508,;SPOP,missense_variant,p.Met35Leu,ENST00000503676,;SPOP,missense_variant,p.Met35Leu,ENST00000510476,;SPOP,downstream_gene_variant,,ENST00000451526,;SPOP,non_coding_transcript_exon_variant,,ENST00000513080,;SPOP,downstream_gene_variant,,ENST00000502385,;SPOP,3_prime_UTR_variant,,ENST00000504212,;SPOP,3_prime_UTR_variant,,ENST00000506399,;SPOP,downstream_gene_variant,,ENST00000509765,;SPOP,upstream_gene_variant,,ENST00000509869,;	574	141	114	SUCCESS
MYCBPAP	84073	.	GRCh37	17	48597032	48597032	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs183786523	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	41	99	0	ENST00000323776.5:c.929T>A	p.Leu310Gln	p.L310Q	ENST00000323776	NM_032133.4	310	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS32680.2	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACTGGAAT	NONE	by1000G	.	hmmpanther:PTHR12276:SF44,hmmpanther:PTHR12276,Pfam_domain:PF14646	.	.	ENSP00000323184	.	7/19	.	.	.	.	.	.	.	.	rs183786523	7/19	PASS	ENST00000323776	Transcript	.	.	ENSG00000136449	19677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.04)	.	MYBPP_HUMAN	MYCBPAP	HGNC	.	.	UPI0000E5A00B	SNV	MYCBPAP,missense_variant,p.Leu273Gln,ENST00000436259,;MYCBPAP,missense_variant,p.Leu310Gln,ENST00000323776,;MYCBPAP,downstream_gene_variant,,ENST00000452039,;MYCBPAP,downstream_gene_variant,,ENST00000576179,;MYCBPAP,upstream_gene_variant,,ENST00000488432,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000468821,;MYCBPAP,missense_variant,p.Leu285Gln,ENST00000437498,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,;MYCBPAP,downstream_gene_variant,,ENST00000458692,;MYCBPAP,upstream_gene_variant,,ENST00000459754,;	1091	99	76	SUCCESS
AKAP1	8165	.	GRCh37	17	55187406	55187406	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	71	0	ENST00000337714.3:c.1735G>T	p.Asp579Tyr	p.D579Y	ENST00000337714	NM_003488.3	579	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS11594.1	1735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGGATTCC	NONE	.	.	hmmpanther:PTHR12727	.	.	ENSP00000337736	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000337714	Transcript	.	.	ENSG00000121057	367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AKAP1_HUMAN	AKAP1	HGNC	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN	.	UPI0000125778	SNV	AKAP1,missense_variant,p.Asp579Tyr,ENST00000571629,;AKAP1,missense_variant,p.Asp579Tyr,ENST00000337714,;AKAP1,missense_variant,p.Asp579Tyr,ENST00000572557,;AKAP1,missense_variant,p.Asp579Tyr,ENST00000539273,;AKAP1,missense_variant,p.Asp155Tyr,ENST00000576295,;AKAP1,downstream_gene_variant,,ENST00000314126,;AKAP1,downstream_gene_variant,,ENST00000575322,;AKAP1,downstream_gene_variant,,ENST00000574683,;AKAP1,downstream_gene_variant,,ENST00000575186,;AKAP1,downstream_gene_variant,,ENST00000576591,;AKAP1,downstream_gene_variant,,ENST00000573085,;AKAP1,downstream_gene_variant,,ENST00000572156,;AKAP1,upstream_gene_variant,,ENST00000575032,;AKAP1,downstream_gene_variant,,ENST00000572814,;AKAP1,downstream_gene_variant,,ENST00000570423,;AKAP1,missense_variant,p.Asp161Tyr,ENST00000573326,;AKAP1,3_prime_UTR_variant,,ENST00000481416,;	1968	71	70	SUCCESS
MPO	4353	.	GRCh37	17	56357776	56357776	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs754224425	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	68	176	1	ENST00000225275.3:c.199G>T	p.Glu67Ter	p.E67*	ENST00000225275	NM_000250.1	67	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11604.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCCATGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475	.	.	ENSP00000225275	.	2/12	.	.	.	.	.	.	.	.	rs754224425	2/12	PASS	ENST00000225275	Transcript	.	.	ENSG00000005381	7218	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERM_HUMAN	MPO	HGNC	.	.	UPI0000131634	SNV	MPO,stop_gained,p.Glu67Ter,ENST00000340482,;MPO,stop_gained,p.Glu67Ter,ENST00000225275,;MPO,non_coding_transcript_exon_variant,,ENST00000580005,;MPO,upstream_gene_variant,,ENST00000578493,;MPO,upstream_gene_variant,,ENST00000581022,;	376	177	150	SUCCESS
USP32	84669	.	GRCh37	17	58260585	58260585	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	67	126	0	ENST00000300896.4:c.4064A>T	p.Asp1355Val	p.D1355V	ENST00000300896	NM_032582.3	1355	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS32697.1	4064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTCCTCT	NONE	.	.	Pfam_domain:PF00443,hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	.	.	ENSP00000300896	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000300896	Transcript	.	.	ENSG00000170832	19143	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious_low_confidence(0.03)	.	UBP32_HUMAN	USP32	HGNC	Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN	.	UPI0000047AF8	SNV	USP32,missense_variant,p.Asp1025Val,ENST00000592339,;USP32,missense_variant,p.Asp1355Val,ENST00000300896,;USP32,upstream_gene_variant,,ENST00000593071,;USP32,non_coding_transcript_exon_variant,,ENST00000586238,;	4259	126	123	SUCCESS
BRIP1	83990	.	GRCh37	17	59793426	59793426	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	50	0	ENST00000259008.2:c.2380-2A>T		p.X794_splice	ENST00000259008	NM_032043.2	794		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11631.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTAATAA	NONE	.	.	.	.	.	ENSP00000259008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259008	Transcript	.	.	ENSG00000136492	20473	.	.	HIGH	16/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FANCJ_HUMAN	BRIP1	HGNC	J3KS24_HUMAN	.	UPI000013D01F	SNV	BRIP1,splice_acceptor_variant,,ENST00000259008,;BRIP1,splice_acceptor_variant,,ENST00000577598,;	.	50	36	SUCCESS
MRC2	9902	.	GRCh37	17	60744225	60744225	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	87	0	ENST00000303375.5:c.967G>T	p.Glu323Ter	p.E323*	ENST00000303375	NM_006039.4	323	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11634.1	967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGAGAGT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000307513	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,stop_gained,p.Glu323Ter,ENST00000303375,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	1369	87	68	SUCCESS
TANC2	26115	.	GRCh37	17	61432399	61432399	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	103	1	ENST00000424789.2:c.2008G>T	p.Val670Leu	p.V670L	ENST00000424789	NM_025185.3	670	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS45754.1	2008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTAGTGTTA	NONE	.	.	hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166	.	.	ENSP00000387593	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000424789	Transcript	.	.	ENSG00000170921	30212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	TANC2_HUMAN	TANC2	HGNC	.	.	UPI00015D57DF	SNV	TANC2,missense_variant,p.Val670Leu,ENST00000389520,;TANC2,missense_variant,p.Val670Leu,ENST00000424789,;TANC2,missense_variant,p.Val599Leu,ENST00000583356,;TANC2,upstream_gene_variant,,ENST00000583545,;	2012	104	87	SUCCESS
MILR1	284021	.	GRCh37	17	62462756	62462756	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	77	1	ENST00000605096.1:c.194A>T	p.Gln65Leu	p.Q65L	ENST00000605096	NM_001085423.1	65	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	.	194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCAGGAGG	NONE	.	.	hmmpanther:PTHR11481:SF2,hmmpanther:PTHR11481	.	.	ENSP00000474420	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000605096	Transcript	.	.	ENSG00000271605	27570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.1)	.	.	MILR1	HGNC	.	.	UPI00033351AB	SNV	MILR1,missense_variant,p.Gln65Leu,ENST00000605096,;MILR1,missense_variant,p.Gln65Leu,ENST00000603557,;	193	79	82	SUCCESS
BPTF	2186	.	GRCh37	17	65907751	65907751	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	46	121	0	ENST00000321892.4:c.4129A>G	p.Ser1377Gly	p.S1377G	ENST00000321892		1377	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS11673.1	3751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGAGTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	11/28	.	.	.	.	.	.	.	.	.	11/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,missense_variant,p.Ser1251Gly,ENST00000306378,;BPTF,missense_variant,p.Ser1377Gly,ENST00000321892,;BPTF,missense_variant,p.Ser1314Gly,ENST00000544778,;BPTF,missense_variant,p.Ser1377Gly,ENST00000335221,;BPTF,missense_variant,p.Ser1238Gly,ENST00000424123,;	3811	121	116	SUCCESS
SLC2A4	6517	.	GRCh37	17	7189182	7189182	+	synonymous_variant	Silent	SNP	C	C	T	rs375934415	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	39	97	0	ENST00000317370.8:c.1281C>T	p.Asn427=	p.N427=	ENST00000317370	NM_001042.2	427	aaC/aaT	0	T:0	.	.	.	.	T	N	protein_coding	YES	CCDS11097.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACTGGAC	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF14,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	T:0.0001	ENSP00000320935	.	10/11	.	.	.	.	.	.	.	.	rs375934415	10/11	PASS	ENST00000317370	Transcript	.	.	ENSG00000181856	11009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR4_HUMAN	SLC2A4	HGNC	.	.	UPI000004F0B3	SNV	SLC2A4,synonymous_variant,p.%3D,ENST00000317370,;SLC2A4,synonymous_variant,p.%3D,ENST00000424875,;SLC2A4,synonymous_variant,p.%3D,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000571464,;YBX2,downstream_gene_variant,,ENST00000007699,;RP1-4G17.2,upstream_gene_variant,,ENST00000576271,;YBX2,downstream_gene_variant,,ENST00000570627,;SLC2A4,3_prime_UTR_variant,,ENST00000570783,;SLC2A4,3_prime_UTR_variant,,ENST00000572485,;YBX2,downstream_gene_variant,,ENST00000571485,;YBX2,downstream_gene_variant,,ENST00000570720,;YBX2,downstream_gene_variant,,ENST00000571834,;	1549	97	45	SUCCESS
KIF19	124602	.	GRCh37	17	72351335	72351335	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	52	0	ENST00000389916.4:c.2881T>C	p.Ser961Pro	p.S961P	ENST00000389916	NM_153209.3	961	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS32718.2	2881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTCACCC	NONE	.	.	.	.	.	ENSP00000374566	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	tolerated(0.16)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ser961Pro,ENST00000389916,;AC103809.2,upstream_gene_variant,,ENST00000599136,;BTBD17,downstream_gene_variant,,ENST00000375366,;KIF19,downstream_gene_variant,,ENST00000551294,;KIF19,downstream_gene_variant,,ENST00000549637,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000547389,;	3019	52	38	SUCCESS
FOXJ1	2302	.	GRCh37	17	74133497	74133497	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753247265	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	18	0	ENST00000322957.6:c.1203G>T	p.Glu401Asp	p.E401D	ENST00000322957	NM_001454.3	401	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS32739.1	1203	RADIA|MUTECT|MUSE	.	CCAGCCTCAAA	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF119	.	.	ENSP00000323880	.	3/3	.	.	.	.	.	.	.	.	rs753247265	3/3	PASS	ENST00000322957	Transcript	.	.	ENSG00000129654	3816	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	.	tolerated(0.51)	.	FOXJ1_HUMAN	FOXJ1	HGNC	.	.	UPI000000DB81	SNV	FOXJ1,missense_variant,p.Glu401Asp,ENST00000322957,;RNF157-AS1,upstream_gene_variant,,ENST00000585542,;RNF157-AS1,upstream_gene_variant,,ENST00000590137,;RNF157-AS1,upstream_gene_variant,,ENST00000586627,;	1558	18	10	SUCCESS
RNF157	114804	.	GRCh37	17	74151646	74151646	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	49	0	ENST00000269391.6:c.1695A>G	p.Gly565=	p.G565=	ENST00000269391	NM_052916.2	565	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS32740.1	1695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCTCCTTC	NONE	.	.	hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996	.	.	ENSP00000269391	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000269391	Transcript	.	.	ENSG00000141576	29402	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN157_HUMAN	RNF157	HGNC	.	.	UPI00001C1FDD	SNV	RNF157,synonymous_variant,p.%3D,ENST00000591355,;RNF157,synonymous_variant,p.%3D,ENST00000269391,;RNF157,synonymous_variant,p.%3D,ENST00000319945,;RNF157-AS1,downstream_gene_variant,,ENST00000592748,;RNF157-AS1,downstream_gene_variant,,ENST00000585542,;RNF157-AS1,downstream_gene_variant,,ENST00000590137,;RNF157-AS1,downstream_gene_variant,,ENST00000586661,;RNF157-AS1,downstream_gene_variant,,ENST00000586627,;RNF157,non_coding_transcript_exon_variant,,ENST00000592869,;RNF157,upstream_gene_variant,,ENST00000589317,;	1828	49	52	SUCCESS
SEC14L1	6397	.	GRCh37	17	75196640	75196640	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	89	0	ENST00000430767.4:c.894G>T	p.Met298Ile	p.M298I	ENST00000430767	NM_001204410.1	298	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS42385.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATGTGTCA	NONE	.	.	Superfamily_domains:SSF46938,SMART_domains:SM01100,Gene3D:3.40.525.10,hmmpanther:PTHR23324:SF51,hmmpanther:PTHR23324	.	.	ENSP00000376268	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000392476	Transcript	.	.	ENSG00000129657	10698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.06)	.	S14L1_HUMAN	SEC14L1	HGNC	K7EQK4_HUMAN,K7ELU0_HUMAN,K7ELM0_HUMAN,K7EJ08_HUMAN,B4E0D1_HUMAN,B4DEZ7_HUMAN	.	UPI00006AB82A	SNV	SEC14L1,missense_variant,p.Met298Ile,ENST00000436233,;SEC14L1,missense_variant,p.Met264Ile,ENST00000591437,;SEC14L1,missense_variant,p.Met298Ile,ENST00000585618,;SEC14L1,missense_variant,p.Met298Ile,ENST00000413679,;SEC14L1,missense_variant,p.Met298Ile,ENST00000392476,;SEC14L1,missense_variant,p.Met298Ile,ENST00000443798,;SEC14L1,missense_variant,p.Met298Ile,ENST00000430767,;SEC14L1,missense_variant,p.Met298Ile,ENST00000589827,;SEC14L1,missense_variant,p.Met264Ile,ENST00000431431,;SEC14L1,upstream_gene_variant,,ENST00000587821,;CYCSP40,upstream_gene_variant,,ENST00000575927,;	1453	89	55	SUCCESS
TP53	7157	.	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1057520007	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	53	125	0	ENST00000269305.4:c.614A>G	p.Tyr205Cys	p.Y205C	ENST00000269305	NM_001126112.2	205	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11118.1	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAATACTCC	SITE|p.Y73C|c.218A>G|19,SITE|p.Y112C|c.335A>G|18,SITE|p.Y205C|c.614A>G|17,SITE|p.Y205C|c.614A>G|5,SITE|p.Y205C|c.614A>G|72,SITE|p.Y205C|c.614A>G|18,SITE|p.Y205C|c.614A>G|8,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y112S|c.335A>C|3,CODON|p.Y205S|c.614A>C|3,CODON|p.Y205F|c.614A>T|7,CODON|p.Y205S|c.614A>C|14,CODON|p.Y205S|c.614A>C|3,CODON|p.Y73S|c.218A>C|3,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y112fs*4|c.334_335insC|4,CODON|p.Y73fs*4|c.217_218insC|4,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y205fs*4|c.613_614insC|4,BUFFER|p.R209fs*6|c.625_626delAG|23,BUFFER|p.R209*|c.625A>T|4,BUFFER|p.R116*|c.346A>T|4,BUFFER|p.R209*|c.625A>T|4,BUFFER|p.R209*|c.625A>T|14,BUFFER|p.R77*|c.229A>T|4,BUFFER|p.D208E|c.624C>G|3,BUFFER|p.D208V|c.623A>T|14,BUFFER|p.D208G|c.623A>G|5,BUFFER|p.D207G|c.620A>G|4,BUFFER|p.L206fs*41|c.617delT|4,BUFFER|p.L206*|c.617T>A|9,BUFFER|p.Y205N|c.613T>A|5,BUFFER|p.Y205N|c.613T>A|3,BUFFER|p.Y112N|c.334T>A|3,BUFFER|p.Y205H|c.613T>C|6,BUFFER|p.Y205D|c.613T>G|14,BUFFER|p.Y73N|c.217T>A|3,BUFFER|p.E204fs*43|c.610delG|3,BUFFER|p.E204*|c.610G>T|3,BUFFER|p.E72*|c.214G>T|10,BUFFER|p.E204*|c.610G>T|32,BUFFER|p.E111*|c.331G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|4,BUFFER|p.V203V|c.609G>T|3,BUFFER|p.V203E|c.608T>A|6,BUFFER|p.V203L|c.607G>T|4,BUFFER|p.R202L|c.605G>T|3,BUFFER|p.R202H|c.605G>A|4,BUFFER|p.R202C|c.604C>T|4,BUFFER|p.R202S|c.604C>A|6,BUFFER|p.L201F|c.603G>T|3,BUFFER|p.L201F|c.603G>C|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12683A>T,TP53_g.12683A>C,TP53_g.12683A>G,COSM43947,COSM44169,COSM11351,COSM99633,COSM215720,COSM99630,COSM215719,COSM99631,COSM215721,COSM3378351,COSM3421935,COSM3421934,COSM1649393,COSM99632,COSM215722	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(0.99)	.	deleterious(0)	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr205Cys,ENST00000413465,;TP53,missense_variant,p.Tyr205Cys,ENST00000420246,;TP53,missense_variant,p.Tyr205Cys,ENST00000269305,;TP53,missense_variant,p.Tyr73Cys,ENST00000509690,;TP53,missense_variant,p.Tyr205Cys,ENST00000359597,;TP53,missense_variant,p.Tyr112Cys,ENST00000514944,;TP53,missense_variant,p.Tyr205Cys,ENST00000445888,;TP53,missense_variant,p.Tyr205Cys,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	804	125	66	SUCCESS
C17orf99	100141515	.	GRCh37	17	76161891	76161891	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	22	41	0	ENST00000340363.5:c.641-79A>G		p.*214*	ENST00000340363	NM_001163075.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54171.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAACGAAC	NONE	.	.	.	.	.	ENSP00000343493	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340363	Transcript	.	.	ENSG00000187997	34490	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ099_HUMAN	C17orf99	HGNC	.	.	UPI000049DE67	SNV	C17orf99,intron_variant,,ENST00000340363,;SYNGR2,upstream_gene_variant,,ENST00000589711,;SYNGR2,upstream_gene_variant,,ENST00000225777,;C17orf99,downstream_gene_variant,,ENST00000586999,;C17orf99,downstream_gene_variant,,ENST00000591995,;SYNGR2,upstream_gene_variant,,ENST00000589168,;SYNGR2,upstream_gene_variant,,ENST00000585591,;SYNGR2,upstream_gene_variant,,ENST00000588282,;SYNGR2,upstream_gene_variant,,ENST00000590201,;C17orf99,non_coding_transcript_exon_variant,,ENST00000451352,;C17orf99,intron_variant,,ENST00000586029,;C17orf99,intron_variant,,ENST00000586246,;SYNGR2,upstream_gene_variant,,ENST00000592456,;SYNGR2,upstream_gene_variant,,ENST00000589183,;SYNGR2,upstream_gene_variant,,ENST00000591770,;	.	41	35	SUCCESS
TK1	7083	.	GRCh37	17	76170929	76170929	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs755362787	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	65	0	ENST00000301634.7:c.616T>C	p.Cys206Arg	p.C206R	ENST00000301634	NM_003258.4	206	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS11754.1	616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCAGTTCT	NONE	.	.	hmmpanther:PTHR11441:SF0,hmmpanther:PTHR11441	.	.	ENSP00000301634	.	7/7	.	.	.	.	.	.	.	.	rs755362787	7/7	PASS	ENST00000301634	Transcript	.	.	ENSG00000167900	11830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.23)	.	KITH_HUMAN	TK1	HGNC	.	.	UPI000012DE94	SNV	TK1,missense_variant,p.Cys206Arg,ENST00000405273,;TK1,missense_variant,p.Cys206Arg,ENST00000301634,;TK1,missense_variant,p.Cys239Arg,ENST00000588734,;TK1,3_prime_UTR_variant,,ENST00000590430,;TK1,intron_variant,,ENST00000590862,;TK1,downstream_gene_variant,,ENST00000586613,;SYNGR2,downstream_gene_variant,,ENST00000225777,;SYNGR2,downstream_gene_variant,,ENST00000589168,;SYNGR2,downstream_gene_variant,,ENST00000589711,;SYNGR2,downstream_gene_variant,,ENST00000585591,;SYNGR2,downstream_gene_variant,,ENST00000588282,;SYNGR2,downstream_gene_variant,,ENST00000590201,;SYNGR2,downstream_gene_variant,,ENST00000592456,;SYNGR2,downstream_gene_variant,,ENST00000591770,;TK1,downstream_gene_variant,,ENST00000592126,;SYNGR2,downstream_gene_variant,,ENST00000589183,;	855	65	45	SUCCESS
BIRC5	332	.	GRCh37	17	76210309	76210309	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	25	0	ENST00000350051.3:c.-89A>T		p.*30*	ENST00000350051	NM_001168.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32752.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGAGGGCG	NONE	.	.	.	.	.	ENSP00000301633	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000301633	Transcript	.	.	ENSG00000089685	593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	BIRC5	HGNC	H3BLT4_HUMAN	.	UPI000013F77A	SNV	BIRC5,5_prime_UTR_variant,,ENST00000301633,;BIRC5,5_prime_UTR_variant,,ENST00000350051,;AC087645.1,downstream_gene_variant,,ENST00000600484,;BIRC5,upstream_gene_variant,,ENST00000592734,;BIRC5,upstream_gene_variant,,ENST00000587746,;BIRC5,upstream_gene_variant,,ENST00000374948,;BIRC5,upstream_gene_variant,,ENST00000590449,;BIRC5,upstream_gene_variant,,ENST00000589892,;BIRC5,upstream_gene_variant,,ENST00000592115,;BIRC5,upstream_gene_variant,,ENST00000586192,;BIRC5,upstream_gene_variant,,ENST00000590925,;BIRC5,upstream_gene_variant,,ENST00000591800,;RP11-219G17.6,upstream_gene_variant,,ENST00000588528,;	43	25	15	SUCCESS
TMEM105	284186	.	GRCh37	17	79287489	79287489	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	47	130	0	ENST00000332900.1:c.352G>A	p.Gly118Arg	p.G118R	ENST00000332900	NM_178520.3	118	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS11781.1	352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCCTTCA	NONE	.	.	.	.	.	ENSP00000329795	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000332900	Transcript	.	.	ENSG00000185332	26794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	TM105_HUMAN	TMEM105	HGNC	.	.	UPI0000071895	SNV	TMEM105,missense_variant,p.Gly118Arg,ENST00000332900,;TMEM105,downstream_gene_variant,,ENST00000574093,;LINC00482,upstream_gene_variant,,ENST00000332012,;	902	130	58	SUCCESS
TBCD	6904	.	GRCh37	17	80887026	80887026	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	13	30	0	ENST00000355528.4:c.2731A>T	p.Ser911Cys	p.S911C	ENST00000355528	NM_005993.4	911	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS45818.1	2731	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGGCCAGTGAG	NONE	.	.	hmmpanther:PTHR12658,Pfam_domain:PF12612,Superfamily_domains:SSF48371	.	.	ENSP00000347719	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000355528	Transcript	.	.	ENSG00000141556	11581	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.072)	.	tolerated(0.19)	.	TBCD_HUMAN	TBCD	HGNC	I3L4D2_HUMAN,I3L439_HUMAN,I3L3H4_HUMAN,I3L1S3_HUMAN,I3L163_HUMAN,I3L131_HUMAN	.	UPI000020053F	SNV	TBCD,missense_variant,p.Ser911Cys,ENST00000539345,;TBCD,missense_variant,p.Ser911Cys,ENST00000355528,;TBCD,missense_variant,p.Ser5Cys,ENST00000577051,;TBCD,downstream_gene_variant,,ENST00000576760,;TBCD,downstream_gene_variant,,ENST00000574975,;TBCD,downstream_gene_variant,,ENST00000574422,;TBCD,downstream_gene_variant,,ENST00000571618,;TBCD,upstream_gene_variant,,ENST00000576603,;TBCD,non_coding_transcript_exon_variant,,ENST00000571796,;TBCD,non_coding_transcript_exon_variant,,ENST00000570679,;TBCD,upstream_gene_variant,,ENST00000576677,;TBCD,upstream_gene_variant,,ENST00000573364,;TBCD,downstream_gene_variant,,ENST00000574886,;TBCD,upstream_gene_variant,,ENST00000575132,;TBCD,downstream_gene_variant,,ENST00000574818,;	2861	30	15	SUCCESS
MFSD6L	162387	.	GRCh37	17	8700730	8700730	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1162800095	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	24	43	0	ENST00000329805.4:c.1709G>A	p.Gly570Glu	p.G570E	ENST00000329805	NM_152599.3	570	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS11146.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCCTGC	NONE	.	.	hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172	.	.	ENSP00000330051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329805	Transcript	.	.	ENSG00000185156	26656	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	MFS6L_HUMAN	MFSD6L	HGNC	.	.	UPI0000141B5F	SNV	MFSD6L,missense_variant,p.Gly570Glu,ENST00000329805,;	1938	43	25	SUCCESS
DHRS7C	201140	.	GRCh37	17	9674809	9674809	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774648500	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	16	37	0	ENST00000330255.5:c.935G>T	p.Gly312Val	p.G312V	ENST00000330255	NM_001105571.2	312	gGg/gTg	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS56020.1	935	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACCCCTCC	NONE	byFrequency	.	.	.	.	ENSP00000327975	.	6/6	.	.	.	.	.	.	.	.	rs774648500	6/6	PASS	ENST00000330255	Transcript	.	.	ENSG00000184544	32423	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.311)	.	deleterious_low_confidence(0.01)	.	DRS7C_HUMAN	DHRS7C	HGNC	.	.	UPI000178DECB	SNV	DHRS7C,missense_variant,p.Gly132Val,ENST00000571771,;DHRS7C,missense_variant,p.Gly312Val,ENST00000330255,;DHRS7C,missense_variant,p.Gly311Val,ENST00000571134,;	948	37	25	SUCCESS
GLP2R	9340	.	GRCh37	17	9774103	9774103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	31	125	0	ENST00000262441.5:c.1096A>G	p.Ile366Val	p.I366V	ENST00000262441	NM_004246.1	366	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11150.1	1096	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCATTTCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000262441	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000262441	Transcript	.	.	ENSG00000065325	4325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.35)	.	GLP2R_HUMAN	GLP2R	HGNC	I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN	.	UPI0000050469	SNV	GLP2R,missense_variant,p.Ile186Val,ENST00000574745,;GLP2R,missense_variant,p.Ile366Val,ENST00000262441,;GLP2R,downstream_gene_variant,,ENST00000458005,;	1609	125	44	SUCCESS
TUBB6	84617	.	GRCh37	18	12325366	12325366	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	35	99	0	ENST00000317702.5:c.578T>A	p.Val193Glu	p.V193E	ENST00000317702		193	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS11858.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGTGGAGA	NONE	.	.	Prints_domain:PR01161,Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF88,hmmpanther:PTHR11588	.	.	ENSP00000318697	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000317702	Transcript	.	.	ENSG00000176014	20776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious_low_confidence(0)	.	TBB6_HUMAN	TUBB6	HGNC	K7ES63_HUMAN,K7EL29_HUMAN,B4E386_HUMAN,B3KS31_HUMAN	.	UPI0000072BFF	SNV	TUBB6,missense_variant,p.Val156Glu,ENST00000590103,;TUBB6,missense_variant,p.Val193Glu,ENST00000317702,;TUBB6,3_prime_UTR_variant,,ENST00000591208,;TUBB6,intron_variant,,ENST00000590967,;TUBB6,intron_variant,,ENST00000591909,;TUBB6,intron_variant,,ENST00000586691,;TUBB6,downstream_gene_variant,,ENST00000592683,;TUBB6,downstream_gene_variant,,ENST00000586653,;TUBB6,downstream_gene_variant,,ENST00000591463,;TUBB6,downstream_gene_variant,,ENST00000590693,;AFG3L2,downstream_gene_variant,,ENST00000269143,;TUBB6,3_prime_UTR_variant,,ENST00000586810,;TUBB6,non_coding_transcript_exon_variant,,ENST00000417736,;TUBB6,downstream_gene_variant,,ENST00000590388,;	812	99	42	SUCCESS
ROCK1	6093	.	GRCh37	18	18559965	18559965	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	57	0	ENST00000399799.2:c.2560A>G	p.Thr854Ala	p.T854A	ENST00000399799	NM_005406.2	854	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11870.2	2560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTCTGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568	.	.	ENSP00000382697	.	22/33	.	.	.	.	.	.	.	.	.	22/33	PASS	ENST00000399799	Transcript	.	.	ENSG00000067900	10251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	ROCK1_HUMAN	ROCK1	HGNC	.	.	UPI000006F0A4	SNV	ROCK1,missense_variant,p.Thr854Ala,ENST00000399799,;ROCK1,splice_region_variant,,ENST00000583556,;	3501	57	46	SUCCESS
MIB1	57534	.	GRCh37	18	19345790	19345790	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	30	55	0	ENST00000261537.6:c.287T>A	p.Ile96Asn	p.I96N	ENST00000261537	NM_020774.3	96	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS11871.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATTCGAT	NONE	.	.	PROSITE_profiles:PS50135,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,PROSITE_patterns:PS01357,Pfam_domain:PF00569,SMART_domains:SM00291,Superfamily_domains:SSF57850	.	.	ENSP00000261537	.	2/21	.	.	.	.	.	.	.	.	.	2/21	PASS	ENST00000261537	Transcript	.	.	ENSG00000101752	21086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	MIB1_HUMAN	MIB1	HGNC	B3KRA8_HUMAN	.	UPI000000D833	SNV	MIB1,missense_variant,p.Ile96Asn,ENST00000261537,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;	551	55	46	SUCCESS
GATA6	2627	.	GRCh37	18	19757000	19757000	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	19	0	ENST00000269216.3:c.1220G>A	p.Gly407Asp	p.G407D	ENST00000269216	NM_005257.4	407	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS11872.1	1220	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGGCCACT	NONE	.	.	PROSITE_profiles:PS50114,hmmpanther:PTHR10071:SF23,hmmpanther:PTHR10071,PROSITE_patterns:PS00344,Gene3D:3.30.50.10,Pfam_domain:PF00320,SMART_domains:SM00401,Superfamily_domains:SSF57716,Prints_domain:PR00619	.	.	ENSP00000269216	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000269216	Transcript	.	.	ENSG00000141448	4174	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	GATA6_HUMAN	GATA6	HGNC	Q05CA6_HUMAN	.	UPI0000201AC8	SNV	GATA6,missense_variant,p.Gly407Asp,ENST00000269216,;GATA6,missense_variant,p.Gly407Asp,ENST00000581694,;RNU6-702P,downstream_gene_variant,,ENST00000364982,;RP11-627G18.2,upstream_gene_variant,,ENST00000578504,;	1497	19	22	SUCCESS
CABLES1	91768	.	GRCh37	18	20774494	20774494	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	27	57	0	ENST00000256925.7:c.1000A>G	p.Arg334Gly	p.R334G	ENST00000256925	NM_001100619.2	334	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS42417.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCAGGAAT	NONE	.	.	hmmpanther:PTHR22896,hmmpanther:PTHR22896:SF1,PIRSF_domain:PIRSF025798	.	.	ENSP00000256925	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000256925	Transcript	.	.	ENSG00000134508	25097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.155)	.	deleterious(0.01)	.	CABL1_HUMAN	CABLES1	HGNC	A7K6Y5_HUMAN	.	UPI00004C2CAA	SNV	CABLES1,missense_variant,p.Arg69Gly,ENST00000420687,;CABLES1,missense_variant,p.Arg114Gly,ENST00000582882,;CABLES1,missense_variant,p.Arg7Gly,ENST00000400473,;CABLES1,missense_variant,p.Arg334Gly,ENST00000256925,;CABLES1,missense_variant,p.Arg7Gly,ENST00000580153,;TMEM241,downstream_gene_variant,,ENST00000450466,;CABLES1,non_coding_transcript_exon_variant,,ENST00000583220,;CABLES1,intron_variant,,ENST00000585061,;CABLES1,downstream_gene_variant,,ENST00000580644,;TMEM241,downstream_gene_variant,,ENST00000584625,;CABLES1,missense_variant,p.Arg7Gly,ENST00000579963,;TMEM241,downstream_gene_variant,,ENST00000581444,;	1000	57	52	SUCCESS
C18orf8	0	.	GRCh37	18	21104400	21104400	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	60	0	ENST00000269221.3:c.1014A>G	p.Ser338=	p.S338=	ENST00000269221	NM_013326.4	338	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS32803.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCATCTTG	NONE	.	.	hmmpanther:PTHR12897	.	.	ENSP00000269221	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000269221	Transcript	.	.	ENSG00000141452	24326	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIC1_HUMAN	C18orf8	HGNC	.	.	UPI000013D80D	SNV	C18orf8,synonymous_variant,p.%3D,ENST00000269221,;C18orf8,synonymous_variant,p.%3D,ENST00000590868,;NPC1,intron_variant,,ENST00000591107,;NPC1,intron_variant,,ENST00000590723,;NPC1,downstream_gene_variant,,ENST00000586150,;NPC1,downstream_gene_variant,,ENST00000593280,;C18orf8,upstream_gene_variant,,ENST00000591367,;C18orf8,3_prime_UTR_variant,,ENST00000589215,;C18orf8,3_prime_UTR_variant,,ENST00000590870,;C18orf8,upstream_gene_variant,,ENST00000590387,;	1124	60	51	SUCCESS
ZNF521	25925	.	GRCh37	18	22669533	22669533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	37	100	0	ENST00000361524.3:c.3802G>T	p.Ala1268Ser	p.A1268S	ENST00000361524	NM_015461.2	1268	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32806.1	3802	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGCTTGAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Ala1268Ser,ENST00000538137,;ZNF521,missense_variant,p.Ala1048Ser,ENST00000584787,;ZNF521,missense_variant,p.Ala1268Ser,ENST00000361524,;ZNF521,3_prime_UTR_variant,,ENST00000399425,;	3951	100	97	SUCCESS
ZNF521	25925	.	GRCh37	18	22806527	22806527	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	37	83	0	ENST00000361524.3:c.1355T>A	p.Leu452Gln	p.L452Q	ENST00000361524	NM_015461.2	452	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS32806.1	1355	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTAGGTTA	NONE	.	.	SMART_domains:SM00355,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Leu452Gln,ENST00000538137,;ZNF521,missense_variant,p.Leu232Gln,ENST00000584787,;ZNF521,missense_variant,p.Leu452Gln,ENST00000361524,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Leu452Gln,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	1504	83	63	SUCCESS
ZNF521	25925	.	GRCh37	18	22807425	22807425	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	58	135	0	ENST00000361524.3:c.457A>T	p.Arg153Trp	p.R153W	ENST00000361524	NM_015461.2	153	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS32806.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTACTGC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	COSM4071615	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Arg153Trp,ENST00000538137,;ZNF521,missense_variant,p.Arg100Trp,ENST00000577720,;ZNF521,missense_variant,p.Arg153Trp,ENST00000577801,;ZNF521,missense_variant,p.Arg153Trp,ENST00000361524,;ZNF521,5_prime_UTR_variant,,ENST00000584787,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,non_coding_transcript_exon_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Arg153Trp,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	606	135	110	SUCCESS
TAF4B	6875	.	GRCh37	18	23854702	23854702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	65	169	0	ENST00000269142.5:c.673T>C	p.Ser225Pro	p.S225P	ENST00000269142	NM_005640.1	225	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS42421.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTTCAAGT	NONE	.	.	hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11	.	.	ENSP00000269142	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000269142	Transcript	.	.	ENSG00000141384	11538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.38)	.	TAF4B_HUMAN	TAF4B	HGNC	B4DYT3_HUMAN,A4PBF8_HUMAN	.	UPI00006C65F2	SNV	TAF4B,missense_variant,p.Ser225Pro,ENST00000578121,;TAF4B,missense_variant,p.Ser225Pro,ENST00000269142,;TAF4B,missense_variant,p.Ser225Pro,ENST00000400466,;TAF4B,missense_variant,p.Ser225Pro,ENST00000418698,;	1671	169	151	SUCCESS
DSG3	1830	.	GRCh37	18	29039011	29039011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	64	161	0	ENST00000257189.4:c.388C>A	p.Leu130Ile	p.L130I	ENST00000257189	NM_001944.2	130	Cta/Ata	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS11898.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCTAAAT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000257189	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000257189	Transcript	.	.	ENSG00000134757	3050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	tolerated(0.14)	.	DSG3_HUMAN	DSG3	HGNC	.	.	UPI000013CF4B	SNV	DSG3,missense_variant,p.Leu130Ile,ENST00000257189,;	471	161	157	SUCCESS
CCDC178	374864	.	GRCh37	18	30672732	30672732	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	96	238	1	ENST00000383096.3:c.2381A>T	p.Lys794Met	p.K794M	ENST00000383096		794	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS42424.1	2381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCTTATCT	NONE	.	.	.	.	.	ENSP00000372576	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Lys794Met,ENST00000579947,;CCDC178,missense_variant,p.Lys794Met,ENST00000406524,;CCDC178,missense_variant,p.Lys794Met,ENST00000403303,;CCDC178,missense_variant,p.Lys794Met,ENST00000383096,;CCDC178,missense_variant,p.Lys756Met,ENST00000300227,;CCDC178,missense_variant,p.Lys794Met,ENST00000583930,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,intron_variant,,ENST00000581524,;CCDC178,intron_variant,,ENST00000581852,;CCDC178,intron_variant,,ENST00000402325,;	2564	239	190	SUCCESS
DTNA	1837	.	GRCh37	18	32444004	32444004	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	19	32	0	ENST00000399113.3:c.1640A>T	p.Glu547Val	p.E547V	ENST00000399113		547	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS59312.1	1460	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGAGGGTC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF268,PIRSF_domain:PIRSF038204	.	.	ENSP00000470152	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000598334	Transcript	.	.	ENSG00000134769	3057	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	.	DTNA	HGNC	M0QYX6_HUMAN,K7ERZ2_HUMAN,K7ERH7_HUMAN,K7ER73_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN	.	UPI0001E92A2F	SNV	DTNA,missense_variant,p.Glu547Val,ENST00000399113,;DTNA,missense_variant,p.Glu544Val,ENST00000348997,;DTNA,missense_variant,p.Glu487Val,ENST00000598334,;DTNA,missense_variant,p.Glu490Val,ENST00000598774,;DTNA,missense_variant,p.Glu487Val,ENST00000597599,;DTNA,missense_variant,p.Glu169Val,ENST00000597674,;DTNA,missense_variant,p.Glu547Val,ENST00000444659,;DTNA,missense_variant,p.Glu487Val,ENST00000399121,;DTNA,missense_variant,p.Glu548Val,ENST00000269190,;DTNA,missense_variant,p.Glu199Val,ENST00000556414,;DTNA,missense_variant,p.Glu547Val,ENST00000269191,;DTNA,missense_variant,p.Glu297Val,ENST00000596745,;DTNA,missense_variant,p.Glu195Val,ENST00000591182,;DTNA,missense_variant,p.Glu490Val,ENST00000598142,;DTNA,missense_variant,p.Glu256Val,ENST00000269192,;DTNA,missense_variant,p.Glu487Val,ENST00000595022,;DTNA,missense_variant,p.Glu169Val,ENST00000601125,;DTNA,missense_variant,p.Glu490Val,ENST00000283365,;DTNA,missense_variant,p.Glu195Val,ENST00000399097,;DTNA,3_prime_UTR_variant,,ENST00000599844,;	1786	32	34	SUCCESS
GALNT1	2589	.	GRCh37	18	33243838	33243838	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	27	60	0	ENST00000269195.5:c.314+72G>T		p.*105*	ENST00000269195	NM_020474.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11915.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGAGTGC	NONE	.	.	.	.	.	ENSP00000269195	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269195	Transcript	.	.	ENSG00000141429	4123	.	.	MODIFIER	2/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT1_HUMAN	GALNT1	HGNC	K7EJV8_HUMAN,F5GY99_HUMAN	.	UPI00001311FC	SNV	GALNT1,3_prime_UTR_variant,,ENST00000591081,;GALNT1,intron_variant,,ENST00000269195,;GALNT1,intron_variant,,ENST00000537549,;GALNT1,downstream_gene_variant,,ENST00000591924,;GALNT1,intron_variant,,ENST00000590654,;GALNT1,intron_variant,,ENST00000589189,;	.	60	49	SUCCESS
RIT2	6014	.	GRCh37	18	40554045	40554045	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	123	271	1	ENST00000326695.5:c.228T>A	p.Ala76=	p.A76=	ENST00000326695	NM_002930.3	76	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11921.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGCAGT	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF203,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000321805	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000326695	Transcript	.	.	ENSG00000152214	10017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIT2_HUMAN	RIT2	HGNC	.	.	UPI0000073E97	SNV	RIT2,synonymous_variant,p.%3D,ENST00000590910,;RIT2,synonymous_variant,p.%3D,ENST00000326695,;RIT2,synonymous_variant,p.%3D,ENST00000282028,;RIT2,synonymous_variant,p.%3D,ENST00000589109,;RIT2,non_coding_transcript_exon_variant,,ENST00000594852,;	400	272	234	SUCCESS
HAUS1	115106	.	GRCh37	18	43703286	43703286	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1359770078	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	76	238	0	ENST00000282058.6:c.622A>G	p.Met208Val	p.M208V	ENST00000282058	NM_138443.3	208	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS11928.1	622	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCATGGAT	NONE	.	.	hmmpanther:PTHR31570	.	.	ENSP00000282058	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000282058	Transcript	.	.	ENSG00000152240	25174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.01)	.	HAUS1_HUMAN	HAUS1	HGNC	.	.	UPI0000073700	SNV	HAUS1,missense_variant,p.His76Arg,ENST00000585518,;HAUS1,missense_variant,p.Met208Val,ENST00000282058,;HAUS1,downstream_gene_variant,,ENST00000592471,;RNU6-1278P,upstream_gene_variant,,ENST00000516130,;HAUS1,non_coding_transcript_exon_variant,,ENST00000588704,;HAUS1,upstream_gene_variant,,ENST00000585425,;HAUS1,3_prime_UTR_variant,,ENST00000592206,;HAUS1,3_prime_UTR_variant,,ENST00000591715,;HAUS1,3_prime_UTR_variant,,ENST00000593165,;HAUS1,3_prime_UTR_variant,,ENST00000589554,;HAUS1,non_coding_transcript_exon_variant,,ENST00000595199,;HAUS1,intron_variant,,ENST00000586060,;HAUS1,downstream_gene_variant,,ENST00000591098,;	702	238	173	SUCCESS
KATNAL2	83473	.	GRCh37	18	44589401	44589401	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	57	0	ENST00000356157.7:c.608A>T	p.Glu203Val	p.E203V	ENST00000356157		203	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS32828.1	392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGAACTTG	NONE	.	.	hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF78,HAMAP:MF_03025	.	.	ENSP00000245121	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000245121	Transcript	.	.	ENSG00000167216	25387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.544)	.	deleterious(0.02)	.	KATL2_HUMAN	KATNAL2	HGNC	K7EM02_HUMAN	.	UPI0000456B8E	SNV	KATNAL2,missense_variant,p.Glu93Val,ENST00000588433,;KATNAL2,missense_variant,p.Glu131Val,ENST00000245121,;KATNAL2,missense_variant,p.Glu203Val,ENST00000356157,;KATNAL2,missense_variant,p.Glu183Val,ENST00000585469,;KATNAL2,intron_variant,,ENST00000592005,;	586	57	52	SUCCESS
SMAD7	4092	.	GRCh37	18	46448280	46448280	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	19	1	ENST00000262158.2:c.743A>T	p.Asp248Val	p.D248V	ENST00000262158	NM_001190821.1	248	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS11936.1	743	SOMATICSNIPER|VARSCANS	.	GGGAATCTAGA	NONE	.	.	hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Superfamily_domains:SSF49879	.	.	ENSP00000262158	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262158	Transcript	.	.	ENSG00000101665	6773	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.849)	.	deleterious(0)	.	SMAD7_HUMAN	SMAD7	HGNC	K7EKF0_HUMAN	.	UPI0000135A83	SNV	SMAD7,missense_variant,p.Asp33Val,ENST00000591805,;SMAD7,missense_variant,p.Asp33Val,ENST00000586093,;SMAD7,missense_variant,p.Asp248Val,ENST00000262158,;SMAD7,missense_variant,p.Asp247Val,ENST00000589634,;SMAD7,splice_region_variant,,ENST00000585986,;SMAD7,splice_region_variant,,ENST00000588190,;SMAD7,splice_region_variant,,ENST00000587336,;SMAD7,splice_region_variant,,ENST00000545051,;	1030	20	14	SUCCESS
DYNAP	284254	.	GRCh37	18	52258409	52258409	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	71	0	ENST00000321600.1:c.-27G>T		p.*9*	ENST00000321600	NM_173629.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11957.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTGACTTC	NONE	.	.	.	.	.	ENSP00000315265	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000321600	Transcript	.	.	ENSG00000178690	26808	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYNAP_HUMAN	DYNAP	HGNC	.	.	UPI000006F69E	SNV	DYNAP,5_prime_UTR_variant,,ENST00000321600,;DYNAP,intron_variant,,ENST00000585973,;	20	71	69	SUCCESS
EPB41L3	23136	.	GRCh37	18	5396213	5396213	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1157621999	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	30	76	0	ENST00000341928.2:c.2960A>G	p.Tyr987Cys	p.Y987C	ENST00000341928	NM_012307.3	987	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11838.1	2960	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATATGTG	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF05902,PIRSF_domain:PIRSF002304	.	.	ENSP00000343158	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,missense_variant,p.Tyr987Cys,ENST00000342933,;EPB41L3,missense_variant,p.Tyr987Cys,ENST00000341928,;EPB41L3,missense_variant,p.Tyr284Cys,ENST00000427684,;EPB41L3,missense_variant,p.Tyr765Cys,ENST00000400111,;EPB41L3,missense_variant,p.Tyr41Cys,ENST00000579951,;EPB41L3,missense_variant,p.Tyr818Cys,ENST00000544123,;EPB41L3,missense_variant,p.Tyr292Cys,ENST00000542146,;EPB41L3,missense_variant,p.Tyr765Cys,ENST00000540638,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578524,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,downstream_gene_variant,,ENST00000582729,;EPB41L3,downstream_gene_variant,,ENST00000578196,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,downstream_gene_variant,,ENST00000581292,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;	3301	76	35	SUCCESS
EPB41L3	23136	.	GRCh37	18	5416315	5416315	+	synonymous_variant	Silent	SNP	T	T	C	rs779482228	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	18	32	0	ENST00000341928.2:c.1569A>G	p.Thr523=	p.T523=	ENST00000341928	NM_012307.3	523	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS11838.1	1569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGTGGG	NONE	.	.	hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,PIRSF_domain:PIRSF002304	.	.	ENSP00000343158	.	13/23	.	.	.	.	.	.	.	.	rs779482228	13/23	PASS	ENST00000341928	Transcript	.	.	ENSG00000082397	3380	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41L3_HUMAN	EPB41L3	HGNC	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN	.	UPI0000129AFA	SNV	EPB41L3,synonymous_variant,p.%3D,ENST00000342933,;EPB41L3,synonymous_variant,p.%3D,ENST00000341928,;EPB41L3,intron_variant,,ENST00000427684,;EPB41L3,intron_variant,,ENST00000400111,;EPB41L3,intron_variant,,ENST00000544123,;EPB41L3,intron_variant,,ENST00000542146,;EPB41L3,intron_variant,,ENST00000540638,;EPB41L3,downstream_gene_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581661,;EPB41L3,intron_variant,,ENST00000578524,;EPB41L3,intron_variant,,ENST00000578196,;EPB41L3,intron_variant,,ENST00000580316,;EPB41L3,intron_variant,,ENST00000542652,;EPB41L3,intron_variant,,ENST00000581292,;EPB41L3,intron_variant,,ENST00000545076,;EPB41L3,intron_variant,,ENST00000581387,;EPB41L3,intron_variant,,ENST00000578395,;EPB41L3,intron_variant,,ENST00000580647,;EPB41L3,intron_variant,,ENST00000579271,;EPB41L3,upstream_gene_variant,,ENST00000582729,;	1910	32	23	SUCCESS
ATP8B1	5205	.	GRCh37	18	55338765	55338765	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	49	141	0	ENST00000283684.4:c.1867A>C	p.Thr623Pro	p.T623P	ENST00000283684		623	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS11965.1	1867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGTGTCAG	NONE	.	.	hmmpanther:PTHR24092:SF48,hmmpanther:PTHR24092,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000445359	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000536015	Transcript	.	.	ENSG00000081923	3706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT8B1_HUMAN	ATP8B1	HGNC	K7ERI0_HUMAN,K7EQC4_HUMAN	.	UPI000013DD54	SNV	ATP8B1,missense_variant,p.Thr623Pro,ENST00000283684,;ATP8B1,missense_variant,p.Thr623Pro,ENST00000536015,;RP11-35G9.3,intron_variant,,ENST00000599199,;RP11-35G9.5,intron_variant,,ENST00000588925,;RP11-35G9.3,downstream_gene_variant,,ENST00000591854,;RP11-35G9.3,downstream_gene_variant,,ENST00000592201,;	1987	141	120	SUCCESS
RAX	30062	.	GRCh37	18	56936364	56936364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	45	0	ENST00000334889.3:c.913T>A	p.Cys305Ser	p.C305S	ENST00000334889	NM_013435.2	305	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS11972.1	913	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCACGGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF302,hmmpanther:PTHR24329	.	.	ENSP00000334813	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334889	Transcript	.	.	ENSG00000134438	18662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.528)	.	deleterious(0)	.	RX_HUMAN	RAX	HGNC	G3V2C8_HUMAN	.	UPI000013CF2F	SNV	RAX,missense_variant,p.Cys305Ser,ENST00000334889,;RAX,3_prime_UTR_variant,,ENST00000256852,;RAX,downstream_gene_variant,,ENST00000555288,;RAX,downstream_gene_variant,,ENST00000591550,;	1100	45	36	SUCCESS
CCBE1	147372	.	GRCh37	18	57122130	57122130	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	71	0	ENST00000439986.4:c.607A>T	p.Lys203Ter	p.K203*	ENST00000439986	NM_133459.3	203	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS32838.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGCATG	NONE	.	.	.	.	.	ENSP00000404464	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000439986	Transcript	.	.	ENSG00000183287	29426	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCBE1_HUMAN	CCBE1	HGNC	K7EQ81_HUMAN	.	UPI000004C616	SNV	CCBE1,stop_gained,p.Lys12Ter,ENST00000589419,;CCBE1,stop_gained,p.Lys203Ter,ENST00000439986,;CCBE1,5_prime_UTR_variant,,ENST00000398179,;RP11-27G24.3,upstream_gene_variant,,ENST00000589242,;CCBE1,non_coding_transcript_exon_variant,,ENST00000589116,;	645	71	58	SUCCESS
CDH20	28316	.	GRCh37	18	59166656	59166656	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs746885092	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	52	108	0	ENST00000262717.4:c.484G>T	p.Glu162Ter	p.E162*	ENST00000262717		162	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11977.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATGAGCCC	NONE	.	.	Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000262717	.	3/12	.	.	.	.	.	.	.	.	rs746885092	3/12	PASS	ENST00000262717	Transcript	.	.	ENSG00000101542	1760	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD20_HUMAN	CDH20	HGNC	Q8N9J3_HUMAN,K7ESP2_HUMAN	.	UPI000013D30D	SNV	CDH20,stop_gained,p.Glu162Ter,ENST00000538374,;CDH20,stop_gained,p.Glu162Ter,ENST00000536675,;CDH20,stop_gained,p.Glu162Ter,ENST00000262717,;	882	108	98	SUCCESS
SERPINB13	5275	.	GRCh37	18	61254600	61254600	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	33	94	0	ENST00000344731.5:c.-102C>A		p.*34*	ENST00000344731	NM_012397.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11985.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAACTATAA	NONE	.	.	.	.	.	ENSP00000341584	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,5_prime_UTR_variant,,ENST00000344731,;SERPINB13,5_prime_UTR_variant,,ENST00000269489,;SERPINB13,intron_variant,,ENST00000431153,;SERPINB13,upstream_gene_variant,,ENST00000415733,;SERPINB13,upstream_gene_variant,,ENST00000479842,;SERPINB13,upstream_gene_variant,,ENST00000438844,;	1	94	74	SUCCESS
SERPINB3	6317	.	GRCh37	18	61322962	61322962	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	49	91	0	ENST00000283752.5:c.1102C>G	p.Pro368Ala	p.P368A	ENST00000283752	NM_006919.2	368	Cct/Gct	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS11987.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGGGTGAT	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,PROSITE_patterns:PS00284,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000283752	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000283752	Transcript	.	.	ENSG00000057149	10569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,missense_variant,p.Pro316Ala,ENST00000332821,;SERPINB3,missense_variant,p.Pro368Ala,ENST00000283752,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;	1246	91	98	SUCCESS
SERPINB2	5055	.	GRCh37	18	61562574	61562574	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	63	0	ENST00000299502.4:c.245T>C	p.Met82Thr	p.M82T	ENST00000299502	NM_002575.2	82	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS11989.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCATGCAGC	NONE	.	.	SMART_domains:SM00093,Pfam_domain:PF00079,hmmpanther:PTHR11461:SF61,hmmpanther:PTHR11461	.	.	ENSP00000401645	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000457692	Transcript	.	.	ENSG00000197632	8584	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.63)	.	PAI2_HUMAN	SERPINB2	HGNC	Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN	.	UPI000002BB06	SNV	SERPINB2,missense_variant,p.Met82Thr,ENST00000404622,;SERPINB2,missense_variant,p.Met82Thr,ENST00000457692,;SERPINB2,missense_variant,p.Met82Thr,ENST00000413956,;SERPINB2,missense_variant,p.Met82Thr,ENST00000443281,;SERPINB2,missense_variant,p.Met82Thr,ENST00000299502,;SERPINB10,upstream_gene_variant,,ENST00000397996,;SERPINB10,upstream_gene_variant,,ENST00000418725,;SERPINB2,non_coding_transcript_exon_variant,,ENST00000482254,;	578	63	70	SUCCESS
DSEL	92126	.	GRCh37	18	65180193	65180193	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	41	98	0	ENST00000310045.7:c.1683T>C	p.Phe561=	p.F561=	ENST00000310045	NM_032160.2	561	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS11995.1	1683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAAATAC	NONE	.	.	hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2	.	.	ENSP00000310565	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310045	Transcript	.	.	ENSG00000171451	18144	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DSEL_HUMAN	DSEL	HGNC	.	.	UPI00000740A1	SNV	DSEL,synonymous_variant,p.%3D,ENST00000310045,;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	3157	98	101	SUCCESS
CCDC102B	79839	.	GRCh37	18	66678301	66678301	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756809241	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	47	149	0	ENST00000319445.6:c.1394T>C	p.Val465Ala	p.V465A	ENST00000319445	NM_001093729.1	465	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS11996.2	1394	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAGTGGAAG	NONE	.	.	hmmpanther:PTHR13140:SF295,hmmpanther:PTHR13140	.	.	ENSP00000353377	.	7/8	.	.	.	.	.	.	.	.	rs756809241	7/8	PASS	ENST00000360242	Transcript	.	.	ENSG00000150636	26295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.721)	.	deleterious(0)	.	C102B_HUMAN	CCDC102B	HGNC	J3QLG6_HUMAN,J3QL62_HUMAN,J3KRT2_HUMAN,J3KRG3_HUMAN,A1A4H1_HUMAN	.	UPI0000201E87	SNV	CCDC102B,missense_variant,p.Val465Ala,ENST00000584156,;CCDC102B,missense_variant,p.Val465Ala,ENST00000319445,;CCDC102B,missense_variant,p.Val465Ala,ENST00000360242,;	1511	149	127	SUCCESS
FAM69C	0	.	GRCh37	18	72114218	72114218	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	56	0	ENST00000343998.6:c.499A>T	p.Ser167Cys	p.S167C	ENST00000343998	NM_001044369.2	167	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS42445.2	499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGCTGT	NONE	.	.	hmmpanther:PTHR21093:SF2,hmmpanther:PTHR21093	.	.	ENSP00000344331	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000343998	Transcript	.	.	ENSG00000187773	31729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.827)	.	deleterious(0.01)	.	FA69C_HUMAN	FAM69C	HGNC	.	.	UPI000041AA52	SNV	FAM69C,missense_variant,p.Ser167Cys,ENST00000343998,;FAM69C,intron_variant,,ENST00000400291,;	508	56	59	SUCCESS
C3P1	388503	.	GRCh37	19	10169609	10169609	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	42	84	0	ENST00000497718.1:n.3095A>G		p.*1032*	ENST00000497718				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCAACGAC	NONE	.	.	.	.	.	.	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000497718	Transcript	.	.	ENSG00000167798	34414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C3P1	HGNC	.	.	.	SNV	C3P1,non_coding_transcript_exon_variant,,ENST00000495140,;C3P1,non_coding_transcript_exon_variant,,ENST00000497718,;	3095	85	99	SUCCESS
ABCA7	10347	.	GRCh37	19	1042061	1042061	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	18	0	ENST00000263094.6:c.303-2A>T		p.X101_splice	ENST00000263094	NM_019112.3	101		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12055.1	.	RADIA|MUTECT|MUSE	.	TCCCCAGGGTC	NONE	.	.	.	.	.	ENSP00000263094	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	HIGH	4/46	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,splice_acceptor_variant,,ENST00000263094,;ABCA7,splice_acceptor_variant,,ENST00000524850,;ABCA7,splice_acceptor_variant,,ENST00000433129,;ABCA7,splice_acceptor_variant,,ENST00000531467,;CNN2,downstream_gene_variant,,ENST00000263097,;CNN2,downstream_gene_variant,,ENST00000562958,;CNN2,downstream_gene_variant,,ENST00000568865,;CNN2,downstream_gene_variant,,ENST00000565096,;CNN2,downstream_gene_variant,,ENST00000348419,;ABCA7,upstream_gene_variant,,ENST00000435683,;AC011558.5,upstream_gene_variant,,ENST00000585757,;ABCA7,upstream_gene_variant,,ENST00000533574,;CNN2,downstream_gene_variant,,ENST00000606983,;ABCA7,splice_acceptor_variant,,ENST00000526885,;ABCA7,non_coding_transcript_exon_variant,,ENST00000525238,;ABCA7,non_coding_transcript_exon_variant,,ENST00000527496,;CNN2,downstream_gene_variant,,ENST00000564572,;CNN2,downstream_gene_variant,,ENST00000566695,;ABCA7,downstream_gene_variant,,ENST00000530703,;CNN2,downstream_gene_variant,,ENST00000569352,;	.	18	12	SUCCESS
S1PR5	53637	.	GRCh37	19	10624587	10624587	+	synonymous_variant	Silent	SNP	C	C	T	rs544821498	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	30	0	ENST00000333430.4:c.1101G>A	p.Ser367=	p.S367=	ENST00000333430	NM_030760.4	367	tcG/tcA	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS12240.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGCGATGA	NONE	by1000G	.	hmmpanther:PTHR22750:SF20,hmmpanther:PTHR22750,Prints_domain:PR01561	T:0	.	ENSP00000416915	T:0	2/2	.	.	.	.	.	.	.	.	rs544821498	2/2	PASS	ENST00000439028	Transcript	.	T:0.0002	ENSG00000180739	14299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	S1PR5_HUMAN	S1PR5	HGNC	.	.	UPI000003BC79	SNV	S1PR5,synonymous_variant,p.%3D,ENST00000333430,;S1PR5,synonymous_variant,p.%3D,ENST00000439028,;S1PR5,downstream_gene_variant,,ENST00000590601,;	1227	30	23	SUCCESS
S1PR5	53637	.	GRCh37	19	10625481	10625481	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	16	62	0	ENST00000333430.4:c.207T>C	p.Ala69=	p.A69=	ENST00000333430	NM_030760.4	69	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS12240.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGAGCGTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF20,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01561	.	.	ENSP00000416915	.	2/2	.	.	.	.	.	.	.	.	COSM372919	2/2	PASS	ENST00000439028	Transcript	.	.	ENSG00000180739	14299	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	S1PR5_HUMAN	S1PR5	HGNC	.	.	UPI000003BC79	SNV	S1PR5,synonymous_variant,p.%3D,ENST00000333430,;S1PR5,synonymous_variant,p.%3D,ENST00000439028,;S1PR5,downstream_gene_variant,,ENST00000590601,;	333	62	62	SUCCESS
SMARCA4	6597	.	GRCh37	19	11101907	11101907	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	83	0	ENST00000344626.4:c.1327A>C	p.Lys443Gln	p.K443Q	ENST00000344626	NM_003072.3	443	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS12253.1	1327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAAGCGC	NONE	.	.	hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799	.	.	ENSP00000395654	.	9/36	.	.	.	.	.	.	.	.	.	9/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Lys443Gln,ENST00000450717,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000358026,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000413806,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000590574,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000444061,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000344626,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000541122,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000429416,;SMARCA4,missense_variant,p.Lys443Gln,ENST00000589677,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;	1608	83	83	SUCCESS
ZNF625-ZNF20	100529855	.	GRCh37	19	12255941	12255941	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	12	0	ENST00000430024.1:c.191+2269T>A		p.*64*	ENST00000430024				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12269.2	.	RADIA|MUTECT|MUSE	.	CAGCTAAACTA	NONE	.	139	.	.	.	ENSP00000394380	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439556	Transcript	.	.	ENSG00000257591	30571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN625_HUMAN	ZNF625	HGNC	.	.	UPI0000EE608F	SNV	ZNF625,3_prime_UTR_variant,,ENST00000455799,;ZNF625,3_prime_UTR_variant,,ENST00000355738,;ZNF625,intron_variant,,ENST00000414892,;ZNF625,intron_variant,,ENST00000542938,;ZNF20,upstream_gene_variant,,ENST00000600335,;ZNF20,upstream_gene_variant,,ENST00000418866,;ZNF625,downstream_gene_variant,,ENST00000439556,;ZNF20,upstream_gene_variant,,ENST00000334213,;ZNF20,upstream_gene_variant,,ENST00000480477,;CTC-359D24.3,upstream_gene_variant,,ENST00000472362,;ZNF625-ZNF20,intron_variant,,ENST00000434822,;ZNF625-ZNF20,intron_variant,,ENST00000430024,;ZNF20,upstream_gene_variant,,ENST00000454949,;ZNF20,upstream_gene_variant,,ENST00000478942,;CTC-359D24.3,upstream_gene_variant,,ENST00000486612,;	.	12	11	SUCCESS
ZNF709	163051	.	GRCh37	19	12595571	12595571	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	38	0	ENST00000397732.3:c.-100A>T		p.*34*	ENST00000397732	NM_152601.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42504.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGGGGT	NONE	.	.	.	.	.	ENSP00000380840	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000397732	Transcript	.	.	ENSG00000242852	20629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN709_HUMAN	ZNF709	HGNC	.	.	UPI000006CF50	SNV	ZNF709,5_prime_UTR_variant,,ENST00000397732,;ZNF709,intron_variant,,ENST00000455490,;ZNF709,intron_variant,,ENST00000428311,;CTD-3105H18.18,5_prime_UTR_variant,,ENST00000598753,;	73	38	42	SUCCESS
NFIX	4784	.	GRCh37	19	13136064	13136064	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	63	0	ENST00000592199.1:c.257A>T	p.Glu86Val	p.E86V	ENST00000592199		86	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS45996.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGAGTTCC	NONE	.	.	PROSITE_profiles:PS51080,hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF03165,SMART_domains:SM00523	.	.	ENSP00000380781	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000397661	Transcript	1	.	ENSG00000008441	7788	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NFIX_HUMAN	NFIX	HGNC	K7ESG9_HUMAN,K7EKH0_HUMAN	.	UPI000002AF1D	SNV	NFIX,missense_variant,p.Glu102Val,ENST00000591028,;NFIX,missense_variant,p.Glu86Val,ENST00000592199,;NFIX,missense_variant,p.Glu39Val,ENST00000586873,;NFIX,missense_variant,p.Glu78Val,ENST00000587760,;NFIX,missense_variant,p.Glu85Val,ENST00000358552,;NFIX,missense_variant,p.Glu86Val,ENST00000397661,;NFIX,missense_variant,p.Glu39Val,ENST00000590027,;NFIX,missense_variant,p.Glu89Val,ENST00000360105,;NFIX,missense_variant,p.Glu39Val,ENST00000588228,;NFIX,missense_variant,p.Glu85Val,ENST00000587260,;NFIX,missense_variant,p.Glu78Val,ENST00000585575,;NFIX,missense_variant,p.Glu39Val,ENST00000585382,;NFIX,3_prime_UTR_variant,,ENST00000586797,;	487	63	56	SUCCESS
CACNA1A	773	.	GRCh37	19	13411364	13411364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	80	0	ENST00000360228.5:c.2279T>A	p.Val760Glu	p.V760E	ENST00000360228	NM_001127222.1	760	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS45998.1	2279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACACAGCT	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59	.	.	ENSP00000353362	.	18/47	.	.	.	.	.	.	.	.	.	18/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.192)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Val761Glu,ENST00000573710,;CACNA1A,missense_variant,p.Val760Glu,ENST00000360228,;	2279	80	66	SUCCESS
APC2	10297	.	GRCh37	19	1460853	1460853	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	10	105	0	ENST00000233607.2:c.1518C>G	p.His506Gln	p.H506Q	ENST00000233607	NM_005883.2	506	caC/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS12068.1	1518	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACCAGGT	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607	.	.	ENSP00000442954	.	11/14	.	.	.	.	.	.	.	.	COSM1711571	11/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.05)	.	.	1	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	SNV	APC2,missense_variant,p.His506Gln,ENST00000233607,;APC2,missense_variant,p.His232Gln,ENST00000238483,;APC2,missense_variant,p.His506Gln,ENST00000590469,;APC2,missense_variant,p.His506Gln,ENST00000535453,;C19orf25,downstream_gene_variant,,ENST00000588427,;CTB-25B13.12,intron_variant,,ENST00000588225,;APC2,non_coding_transcript_exon_variant,,ENST00000593146,;CTB-25B13.12,upstream_gene_variant,,ENST00000591252,;	3231	105	78	SUCCESS
EMR3	0	.	GRCh37	19	14749129	14749129	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	28	75	0	ENST00000253673.5:c.1272T>A	p.Gly424=	p.G424=	ENST00000253673	NM_032571.3	424	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12315.1	1272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCACCGGC	BUFFER|p.G424S|c.1270G>A|3	.	.	Prints_domain:PR00249,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178,PROSITE_profiles:PS50261	.	.	ENSP00000253673	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,synonymous_variant,p.%3D,ENST00000253673,;EMR3,synonymous_variant,p.%3D,ENST00000599900,;EMR3,synonymous_variant,p.%3D,ENST00000344373,;EMR3,synonymous_variant,p.%3D,ENST00000443157,;	1373	75	53	SUCCESS
EMR3	0	.	GRCh37	19	14755018	14755018	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	70	0	ENST00000253673.5:c.952A>T	p.Arg318Trp	p.R318W	ENST00000253673	NM_032571.3	318	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12315.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGGACC	NONE	.	.	Prints_domain:PR01128,SMART_domains:SM00303,Pfam_domain:PF01825,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178,PROSITE_profiles:PS50221	.	.	ENSP00000253673	.	9/16	.	.	.	.	.	.	.	.	COSM1523790	9/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.807)	.	deleterious(0)	1	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,missense_variant,p.Arg318Trp,ENST00000253673,;EMR3,missense_variant,p.Arg103Trp,ENST00000599900,;EMR3,missense_variant,p.Arg266Trp,ENST00000344373,;EMR3,missense_variant,p.Arg192Trp,ENST00000443157,;	1053	70	62	SUCCESS
ZNF333	84449	.	GRCh37	19	14828536	14828536	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	70	0	ENST00000292530.6:c.891T>C	p.Asp297=	p.D297=	ENST00000292530	NM_032433.2	297	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS12316.1	891	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATGTGAA	NONE	.	.	hmmpanther:PTHR24402:SF183,hmmpanther:PTHR24402	.	.	ENSP00000292530	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000292530	Transcript	.	.	ENSG00000160961	15624	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN333_HUMAN	ZNF333	HGNC	B3KT80_HUMAN,B3KSN8_HUMAN	.	UPI000013C35C	SNV	ZNF333,synonymous_variant,p.%3D,ENST00000292530,;ZNF333,synonymous_variant,p.%3D,ENST00000536363,;ZNF333,synonymous_variant,p.%3D,ENST00000540689,;ZNF333,3_prime_UTR_variant,,ENST00000598161,;ZNF333,non_coding_transcript_exon_variant,,ENST00000597301,;ZNF333,downstream_gene_variant,,ENST00000597007,;	982	70	58	SUCCESS
SLC1A6	6511	.	GRCh37	19	15065140	15065140	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	24	0	ENST00000221742.3:c.1171T>A	p.Ser391Thr	p.S391T	ENST00000221742	NM_005071.2	391	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS12321.1	1171	RADIA|VARSCANS	.	TGCCGAGCTGG	NONE	.	.	hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	.	.	ENSP00000221742	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000221742	Transcript	.	.	ENSG00000105143	10944	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.973)	.	deleterious(0.03)	.	EAA4_HUMAN	SLC1A6	HGNC	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN	.	UPI0000129B1A	SNV	SLC1A6,missense_variant,p.Ser313Thr,ENST00000600144,;SLC1A6,missense_variant,p.Ser391Thr,ENST00000221742,;SLC1A6,missense_variant,p.Ser327Thr,ENST00000430939,;	1179	24	14	SUCCESS
NOTCH3	4854	.	GRCh37	19	15290991	15290991	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	50	0	ENST00000263388.2:c.3219A>C	p.Pro1073=	p.P1073=	ENST00000263388	NM_000435.2	1073	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS12326.1	3219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGGGCA	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_patterns:PS00022,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	20/33	.	.	.	.	.	.	.	.	.	20/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,synonymous_variant,p.%3D,ENST00000263388,;NOTCH3,synonymous_variant,p.%3D,ENST00000601011,;NOTCH3,upstream_gene_variant,,ENST00000600841,;NOTCH3,upstream_gene_variant,,ENST00000595045,;	3295	50	46	SUCCESS
NOTCH3	4854	.	GRCh37	19	15299987	15299987	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	73	0	ENST00000263388.2:c.1193-2A>T		p.X398_splice	ENST00000263388	NM_000435.2	398		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12326.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCTGCCGG	NONE	.	.	.	.	.	ENSP00000263388	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	HIGH	7/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,splice_acceptor_variant,,ENST00000263388,;NOTCH3,splice_acceptor_variant,,ENST00000601011,;	.	73	52	SUCCESS
F2RL3	9002	.	GRCh37	19	17000522	17000522	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	12	18	0	ENST00000248076.3:c.248T>A	p.Leu83His	p.L83H	ENST00000248076	NM_003950.2	83	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS12350.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTCTATG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF22,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01428,Prints_domain:PR00237	.	.	ENSP00000248076	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000248076	Transcript	.	.	ENSG00000127533	3540	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	PAR4_HUMAN	F2RL3	HGNC	.	.	UPI000013CC36	SNV	F2RL3,missense_variant,p.Ser82Thr,ENST00000599210,;F2RL3,missense_variant,p.Leu83His,ENST00000248076,;CPAMD8,downstream_gene_variant,,ENST00000598792,;CPAMD8,downstream_gene_variant,,ENST00000443236,;CPAMD8,downstream_gene_variant,,ENST00000594249,;CPAMD8,downstream_gene_variant,,ENST00000598547,;CPAMD8,downstream_gene_variant,,ENST00000602132,;CPAMD8,downstream_gene_variant,,ENST00000597335,;CPAMD8,downstream_gene_variant,,ENST00000600235,;CPAMD8,downstream_gene_variant,,ENST00000596224,;CPAMD8,downstream_gene_variant,,ENST00000597709,;CPAMD8,downstream_gene_variant,,ENST00000601782,;	578	18	23	SUCCESS
B3GNT3	10331	.	GRCh37	19	17919063	17919063	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	81	1	ENST00000318683.6:c.447A>T	p.Thr149=	p.T149=	ENST00000318683	NM_014256.3	149	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS12364.1	447	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGCCTC	NONE	.	.	Pfam_domain:PF01762,hmmpanther:PTHR11214:SF23,hmmpanther:PTHR11214	.	.	ENSP00000321874	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000318683	Transcript	.	.	ENSG00000179913	13528	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B3GN3_HUMAN	B3GNT3	HGNC	M0R199_HUMAN,M0QX58_HUMAN	.	UPI000007021E	SNV	B3GNT3,synonymous_variant,p.%3D,ENST00000318683,;B3GNT3,synonymous_variant,p.%3D,ENST00000599265,;B3GNT3,synonymous_variant,p.%3D,ENST00000595387,;B3GNT3,downstream_gene_variant,,ENST00000600777,;	594	82	66	SUCCESS
IL12RB1	3594	.	GRCh37	19	18171954	18171954	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	108	278	0	ENST00000593993.2:c.1769T>C	p.Ile590Thr	p.I590T	ENST00000593993	NM_005535.1	590	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS54232.1	1769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAATGGCG	NONE	.	.	hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51	.	.	ENSP00000470788	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000600835	Transcript	1	.	ENSG00000096996	5971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.16)	.	I12R1_HUMAN	IL12RB1	HGNC	M0R382_HUMAN,M0QX06_HUMAN	.	UPI00000502CE	SNV	IL12RB1,missense_variant,p.Ile590Thr,ENST00000593993,;IL12RB1,missense_variant,p.Ile590Thr,ENST00000600835,;	2068	278	237	SUCCESS
KIAA1683	0	.	GRCh37	19	18377982	18377982	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	74	0	ENST00000392413.4:c.368T>C	p.Leu123Pro	p.L123P	ENST00000392413	NM_001145304.1	123	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS46017.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCAGCTTC	NONE	.	.	PROSITE_profiles:PS50096,hmmpanther:PTHR22590:SF1,hmmpanther:PTHR22590,Pfam_domain:PF00612,SMART_domains:SM00015	.	.	ENSP00000376213	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000392413	Transcript	.	.	ENSG00000130518	29350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	K1683_HUMAN	KIAA1683	HGNC	U3KQN7_HUMAN,U3KQG6_HUMAN	.	UPI000194EC26	SNV	KIAA1683,missense_variant,p.Leu123Pro,ENST00000608950,;KIAA1683,missense_variant,p.Leu77Pro,ENST00000600359,;KIAA1683,missense_variant,p.Leu123Pro,ENST00000600328,;KIAA1683,missense_variant,p.Leu77Pro,ENST00000595654,;KIAA1683,missense_variant,p.Leu123Pro,ENST00000392413,;KIAA1683,downstream_gene_variant,,ENST00000593659,;KIAA1683,downstream_gene_variant,,ENST00000599528,;KIAA1683,upstream_gene_variant,,ENST00000599638,;	584	74	67	SUCCESS
TMEM161A	54929	.	GRCh37	19	19243552	19243552	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	85	0	ENST00000162044.9:c.200G>A	p.Gly67Asp	p.G67D	ENST00000162044	NM_017814.2	67	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS12393.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGCCATTG	NONE	.	.	Pfam_domain:PF10268,hmmpanther:PTHR13624:SF4,hmmpanther:PTHR13624	.	.	ENSP00000162044	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000162044	Transcript	.	.	ENSG00000064545	26020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	T161A_HUMAN	TMEM161A	HGNC	K7EQE7_HUMAN,K7EQ34_HUMAN	.	UPI00000373EF	SNV	TMEM161A,missense_variant,p.Gly67Asp,ENST00000162044,;TMEM161A,missense_variant,p.Gly67Asp,ENST00000587583,;TMEM161A,missense_variant,p.Gly67Asp,ENST00000450333,;TMEM161A,missense_variant,p.Gly50Asp,ENST00000587915,;TMEM161A,missense_variant,p.Gly50Asp,ENST00000587096,;TMEM161A,5_prime_UTR_variant,,ENST00000592369,;TMEM161A,upstream_gene_variant,,ENST00000587925,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000592147,;TMEM161A,missense_variant,p.Gly67Asp,ENST00000587985,;TMEM161A,3_prime_UTR_variant,,ENST00000590216,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000587406,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000589448,;TMEM161A,upstream_gene_variant,,ENST00000591031,;TMEM161A,downstream_gene_variant,,ENST00000586357,;	265	85	80	SUCCESS
CILP2	148113	.	GRCh37	19	19651056	19651056	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	24	0	ENST00000291495.5:c.207A>T	p.Gly69=	p.G69=	ENST00000291495	NM_153221.2	69	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12405.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGAGGCGA	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031,Pfam_domain:PF13330	.	.	ENSP00000291495	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,synonymous_variant,p.%3D,ENST00000291495,;CILP2,synonymous_variant,p.%3D,ENST00000586018,;CTC-260F20.3,downstream_gene_variant,,ENST00000555938,;YJEFN3,downstream_gene_variant,,ENST00000436027,;YJEFN3,downstream_gene_variant,,ENST00000608404,;YJEFN3,downstream_gene_variant,,ENST00000514277,;CILP2,upstream_gene_variant,,ENST00000588333,;YJEFN3,downstream_gene_variant,,ENST00000458210,;	292	24	26	SUCCESS
CILP2	148113	.	GRCh37	19	19655120	19655120	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	67	0	ENST00000291495.5:c.1766G>T	p.Gly589Val	p.G589V	ENST00000291495	NM_153221.2	589	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS12405.1	1766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGCGCTT	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.221)	.	tolerated(0.15)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Gly589Val,ENST00000291495,;CILP2,missense_variant,p.Gly595Val,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1851	67	53	SUCCESS
PBX4	80714	.	GRCh37	19	19675781	19675781	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	100	0	ENST00000251203.9:c.886C>T	p.Pro296Ser	p.P296S	ENST00000251203	NM_025245.2	296	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12406.1	886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGGACCC	NONE	.	.	hmmpanther:PTHR11850:SF70,hmmpanther:PTHR11850	.	.	ENSP00000251203	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000251203	Transcript	.	.	ENSG00000105717	13403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.6)	.	PBX4_HUMAN	PBX4	HGNC	.	.	UPI000013CCED	SNV	PBX4,missense_variant,p.Pro296Ser,ENST00000251203,;PBX4,3_prime_UTR_variant,,ENST00000558222,;PBX4,3_prime_UTR_variant,,ENST00000557978,;PBX4,upstream_gene_variant,,ENST00000558276,;	1173	100	84	SUCCESS
GMIP	51291	.	GRCh37	19	19749243	19749243	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	101	0	ENST00000203556.4:c.586A>G	p.Lys196Glu	p.K196E	ENST00000203556	NM_016573.2	196	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS12408.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGAACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Superfamily_domains:SSF103657	.	.	ENSP00000203556	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000203556	Transcript	.	.	ENSG00000089639	24852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.955)	.	deleterious(0)	.	GMIP_HUMAN	GMIP	HGNC	K7EQR5_HUMAN	.	UPI0000203862	SNV	GMIP,missense_variant,p.Lys196Glu,ENST00000587238,;GMIP,missense_variant,p.Lys196Glu,ENST00000203556,;GMIP,missense_variant,p.Lys196Glu,ENST00000445806,;GMIP,downstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000593186,;GMIP,upstream_gene_variant,,ENST00000586269,;GMIP,3_prime_UTR_variant,,ENST00000588171,;GMIP,3_prime_UTR_variant,,ENST00000591047,;GMIP,upstream_gene_variant,,ENST00000587713,;	724	101	82	SUCCESS
ZNF93	81931	.	GRCh37	19	20026109	20026109	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	32	0	ENST00000343769.5:c.24T>C	p.Asp8=	p.D8=	ENST00000343769	NM_031218.3	8	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS32973.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGTGGC	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF270,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000342002	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000343769	Transcript	.	.	ENSG00000184635	13169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF93_HUMAN	ZNF93	HGNC	K7EPV7_HUMAN,B4DJ46_HUMAN	.	UPI00002263B9	SNV	ZNF93,synonymous_variant,p.%3D,ENST00000591366,;ZNF93,synonymous_variant,p.%3D,ENST00000343769,;ZNF93,synonymous_variant,p.%3D,ENST00000592160,;ZNF93,intron_variant,,ENST00000588146,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,non_coding_transcript_exon_variant,,ENST00000589903,;ZNF93,synonymous_variant,p.%3D,ENST00000586021,;	52	32	37	SUCCESS
CTC-260E6.2	0	.	GRCh37	19	20236027	20236027	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	23	0	ENST00000434475.2:n.217G>T		p.*73*	ENST00000434475				0	.	.	.	.	.	T	.	transcribed_processed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGGCAAG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000434475	Transcript	.	.	ENSG00000224864	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTC-260E6.2	Clone_based_vega_gene	.	.	.	SNV	CTC-260E6.6,downstream_gene_variant,,ENST00000590606,;CTC-260E6.6,downstream_gene_variant,,ENST00000593655,;CTC-260E6.6,downstream_gene_variant,,ENST00000586657,;ZNF90,non_coding_transcript_exon_variant,,ENST00000474284,;ZNF90,3_prime_UTR_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000484032,;CTC-260E6.2,non_coding_transcript_exon_variant,,ENST00000434475,;CTC-260E6.2,non_coding_transcript_exon_variant,,ENST00000497576,;	217	23	20	SUCCESS
ZNF430	80264	.	GRCh37	19	21239855	21239855	+	synonymous_variant	Silent	SNP	C	C	T	rs148853343	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	74	210	0	ENST00000261560.5:c.741C>T	p.Thr247=	p.T247=	ENST00000261560	NM_025189.3	247	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32978.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	TCAACCCTTAC	NONE	byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF41,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000261560	.	5/5	.	.	.	.	.	.	.	.	rs148853343,COSM107000	5/5	PASS	ENST00000261560	Transcript	.	.	ENSG00000118620	20808	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	21499247	.	.	.	1,1	ZN430_HUMAN	ZNF430	HGNC	Q69YQ2_HUMAN,Q2NKJ9_HUMAN	.	UPI000020389E	SNV	ZNF430,synonymous_variant,p.%3D,ENST00000261560,;ZNF430,downstream_gene_variant,,ENST00000599548,;ZNF430,upstream_gene_variant,,ENST00000597922,;AC012627.1,downstream_gene_variant,,ENST00000578233,;	922	210	167	SUCCESS
ZNF431	170959	.	GRCh37	19	21365902	21365902	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs571315156	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	66	0	ENST00000311048.7:c.796G>T	p.Gly266Cys	p.G266C	ENST00000311048	NM_133473.2	266	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS32979.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTGGCAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF118,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000308578	.	5/5	.	.	.	.	.	.	.	.	rs571315156	5/5	PASS	ENST00000311048	Transcript	.	.	ENSG00000196705	20809	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN431_HUMAN	ZNF431	HGNC	.	.	UPI0000191EAC	SNV	ZNF431,missense_variant,p.Gly306Cys,ENST00000598331,;ZNF431,missense_variant,p.Gly266Cys,ENST00000311048,;ZNF431,3_prime_UTR_variant,,ENST00000600692,;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000594821,;ZNF431,upstream_gene_variant,,ENST00000593426,;	940	66	73	SUCCESS
ZNF429	353088	.	GRCh37	19	21719234	21719234	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	130	0	ENST00000358491.4:c.379A>G	p.Lys127Glu	p.K127E	ENST00000358491	NM_001001415.2	127	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS42537.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACAAAGGA	NONE	.	.	hmmpanther:PTHR24377:SF239,hmmpanther:PTHR24377	.	.	ENSP00000351280	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000358491	Transcript	.	.	ENSG00000197013	20817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.777)	.	tolerated(0.17)	.	ZN429_HUMAN	ZNF429	HGNC	.	.	UPI000022ABC2	SNV	ZNF429,missense_variant,p.Lys127Glu,ENST00000358491,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,non_coding_transcript_exon_variant,,ENST00000594022,;	587	130	106	SUCCESS
ZNF208	7757	.	GRCh37	19	22155602	22155602	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763924394	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	17	0	ENST00000397126.4:c.2234G>A	p.Gly745Glu	p.G745E	ENST00000397126	NM_007153.3	745	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS54240.1	2234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCCAGTA	NONE	.	.	Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_profiles:PS50157	.	.	ENSP00000380315	.	4/4	.	.	.	.	.	.	.	.	rs763924394	4/4	PASS	ENST00000397126	Transcript	.	.	ENSG00000160321	12999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.08)	.	ZN208_HUMAN	ZNF208	HGNC	.	.	UPI0001B23C28	SNV	ZNF208,missense_variant,p.Gly745Glu,ENST00000397126,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	2383	17	14	SUCCESS
ZNF681	148213	.	GRCh37	19	23926975	23926975	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	35	0	ENST00000395385.3:c.1170T>C	p.Phe390=	p.F390=	ENST00000395385		390	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS12414.2	1377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTTAAAGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,synonymous_variant,p.%3D,ENST00000395385,;ZNF681,synonymous_variant,p.%3D,ENST00000402377,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	1519	35	20	SUCCESS
PPAP2C	0	.	GRCh37	19	291347	291347	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	40	0	ENST00000434325.2:c.-138T>C		p.*46*	ENST00000434325				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12024.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGACCCCC	NONE	.	177	.	.	.	ENSP00000329697	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,5_prime_UTR_variant,,ENST00000269812,;PPAP2C,5_prime_UTR_variant,,ENST00000434325,;PPAP2C,5_prime_UTR_variant,,ENST00000591572,;PPAP2C,upstream_gene_variant,,ENST00000327790,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,upstream_gene_variant,,ENST00000589672,;	.	40	38	SUCCESS
ZNF536	9745	.	GRCh37	19	30935770	30935770	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	65	0	ENST00000355537.3:c.1301T>G	p.Leu434Arg	p.L434R	ENST00000355537	NM_014717.1	434	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS32984.1	1301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCAGA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,missense_variant,p.Leu434Arg,ENST00000585628,;ZNF536,missense_variant,p.Leu434Arg,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	1448	65	59	SUCCESS
ZNF507	22847	.	GRCh37	19	32843894	32843894	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	70	0	ENST00000311921.4:c.158A>G	p.Lys53Arg	p.K53R	ENST00000311921	NM_014910.4	53	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS32985.1	158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAAGATAG	NONE	.	.	hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402	.	.	ENSP00000312277	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000311921	Transcript	.	.	ENSG00000168813	23783	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.05)	.	ZN507_HUMAN	ZNF507	HGNC	.	.	UPI0000202010	SNV	ZNF507,missense_variant,p.Lys53Arg,ENST00000355898,;ZNF507,missense_variant,p.Lys53Arg,ENST00000311921,;ZNF507,missense_variant,p.Lys53Arg,ENST00000544431,;ZNF507,non_coding_transcript_exon_variant,,ENST00000587084,;	350	70	74	SUCCESS
RGS9BP	388531	.	GRCh37	19	33167237	33167237	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	30	0	ENST00000334176.3:c.68T>A	p.Leu23Gln	p.L23Q	ENST00000334176	NM_207391.2	23	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12424.1	68	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGGTGC	NONE	.	.	hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF1,Pfam_domain:PF14523	.	.	ENSP00000334134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334176	Transcript	1	.	ENSG00000186326	30304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	R9BP_HUMAN	RGS9BP	HGNC	.	.	UPI0000198BA8	SNV	RGS9BP,missense_variant,p.Leu23Gln,ENST00000334176,;ANKRD27,5_prime_UTR_variant,,ENST00000590519,;ANKRD27,upstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000306065,;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	925	30	45	SUCCESS
KMT2B	9757	.	GRCh37	19	36221017	36221017	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	145	0	ENST00000222270.7:c.5067G>C	p.Leu1689=	p.L1689=	ENST00000222270	NM_014727.1	1689	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS46055.1	5067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTGGATGG	NONE	.	.	hmmpanther:PTHR22884:SF280,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000222270	.	23/37	.	.	.	.	.	.	.	.	.	23/37	PASS	ENST00000222270	Transcript	.	.	ENSG00000272333	15840	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2B_HUMAN	KMT2B	Uniprot_gn	.	.	UPI00001376B5	SNV	KMT2B,synonymous_variant,p.%3D,ENST00000420124,;KMT2B,synonymous_variant,p.%3D,ENST00000222270,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000592092,;	5067	145	103	SUCCESS
THEG	51298	.	GRCh37	19	362299	362299	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	92	0	ENST00000342640.4:c.1041C>T	p.Gly347=	p.G347=	ENST00000342640	NM_016585.4	347	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12025.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGGCCCTT	NONE	.	.	hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13,Pfam_domain:PF14912	.	.	ENSP00000340088	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000342640	Transcript	.	.	ENSG00000105549	13706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THEG_HUMAN	THEG	HGNC	.	.	UPI000006E5C6	SNV	THEG,missense_variant,p.Ala204Val,ENST00000530711,;THEG,synonymous_variant,p.%3D,ENST00000346878,;THEG,synonymous_variant,p.%3D,ENST00000342640,;THEG,downstream_gene_variant,,ENST00000528213,;	1084	92	50	SUCCESS
ARHGAP33	115703	.	GRCh37	19	36276186	36276186	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	92	0	ENST00000314737.5:c.1817A>T	p.Lys606Met	p.K606M	ENST00000314737	NM_052948.3	606	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS12477.1	1817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAAAGAAGC	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF8	.	.	ENSP00000320038	.	18/21	.	.	.	.	.	.	.	.	.	18/21	PASS	ENST00000314737	Transcript	.	.	ENSG00000004777	23085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	tolerated_low_confidence(0.05)	.	RHG33_HUMAN	ARHGAP33	HGNC	.	.	UPI000013F8F9	SNV	ARHGAP33,missense_variant,p.Lys606Met,ENST00000007510,;ARHGAP33,missense_variant,p.Lys470Met,ENST00000378944,;ARHGAP33,missense_variant,p.Lys182Met,ENST00000587447,;ARHGAP33,missense_variant,p.Lys606Met,ENST00000314737,;ARHGAP33,missense_variant,p.Lys245Met,ENST00000588248,;AC002398.5,downstream_gene_variant,,ENST00000433059,;ARHGAP33,downstream_gene_variant,,ENST00000591438,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000593034,;ARHGAP33,intron_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000601474,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;	1901	92	83	SUCCESS
ZNF585A	199704	.	GRCh37	19	37644045	37644045	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	32	65	0	ENST00000292841.5:c.591A>C	p.Thr197=	p.T197=	ENST00000292841	NM_152655.2	197	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12499.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTGTGAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000292841	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292841	Transcript	.	.	ENSG00000196967	26305	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z585A_HUMAN	ZNF585A	HGNC	.	.	UPI000007213F	SNV	ZNF585A,synonymous_variant,p.%3D,ENST00000292841,;ZNF585A,synonymous_variant,p.%3D,ENST00000355533,;ZNF585A,synonymous_variant,p.%3D,ENST00000392157,;ZNF585A,synonymous_variant,p.%3D,ENST00000356958,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	1089	65	66	SUCCESS
ZFR2	23217	.	GRCh37	19	3811305	3811305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	40	0	ENST00000262961.4:c.2302T>A	p.Ser768Thr	p.S768T	ENST00000262961	NM_015174.1	768	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS45921.1	2302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGACTCGA	NONE	.	.	PROSITE_profiles:PS51703,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85,Pfam_domain:PF07528,SMART_domains:SM00572	.	.	ENSP00000262961	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.24)	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,missense_variant,p.Ser768Thr,ENST00000262961,;	2313	40	30	SUCCESS
ZFR2	23217	.	GRCh37	19	3831767	3831767	+	synonymous_variant	Silent	SNP	G	G	C	rs766798385	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	37	0	ENST00000262961.4:c.489C>G	p.Ser163=	p.S163=	ENST00000262961	NM_015174.1	163	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS45921.1	489	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CCCGAGGACAA	NONE	.	.	hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85	.	.	ENSP00000262961	.	4/19	.	.	.	.	.	.	.	.	rs766798385	4/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,synonymous_variant,p.%3D,ENST00000262961,;ZFR2,non_coding_transcript_exon_variant,,ENST00000591965,;ZFR2,synonymous_variant,p.%3D,ENST00000438164,;ZFR2,downstream_gene_variant,,ENST00000592807,;ZFR2,downstream_gene_variant,,ENST00000587212,;	500	37	17	SUCCESS
WDR87	83889	.	GRCh37	19	38383818	38383818	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	62	0	ENST00000303868.5:c.2408T>A	p.Leu803Gln	p.L803Q	ENST00000303868	NM_031951.3	803	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS46063.1	2408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTAGGTAT	NONE	.	.	hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Leu842Gln,ENST00000447313,;WDR87,missense_variant,p.Leu803Gln,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	2633	62	59	SUCCESS
WDR87	83889	.	GRCh37	19	38384319	38384319	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	49	0	ENST00000303868.5:c.1907T>C	p.Leu636Ser	p.L636S	ENST00000303868	NM_031951.3	636	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS46063.1	1907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTAAACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18	.	.	ENSP00000368025	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000303868	Transcript	.	.	ENSG00000171804	29934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	WDR87_HUMAN	WDR87	HGNC	B4DXE9_HUMAN	.	UPI0001662BC1	SNV	WDR87,missense_variant,p.Leu675Ser,ENST00000447313,;WDR87,missense_variant,p.Leu636Ser,ENST00000303868,;WDR87,downstream_gene_variant,,ENST00000473328,;	2132	49	52	SUCCESS
RYR1	6261	.	GRCh37	19	39076640	39076640	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	65	0	ENST00000359596.3:c.14866G>T	p.Glu4956Ter	p.E4956*	ENST00000359596		4956	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33011.1	14866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGGAGGTA	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	103/106	.	.	.	.	.	.	.	.	.	103/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,stop_gained,p.Glu4951Ter,ENST00000355481,;RYR1,stop_gained,p.Glu4956Ter,ENST00000359596,;RYR1,stop_gained,p.Glu4951Ter,ENST00000360985,;MAP4K1,downstream_gene_variant,,ENST00000396857,;MAP4K1,downstream_gene_variant,,ENST00000589130,;MAP4K1,downstream_gene_variant,,ENST00000591517,;MAP4K1,downstream_gene_variant,,ENST00000586296,;MAP4K1,downstream_gene_variant,,ENST00000591921,;MAP4K1,downstream_gene_variant,,ENST00000593196,;MAP4K1,downstream_gene_variant,,ENST00000591210,;	14866	65	52	SUCCESS
FBXO27	126433	.	GRCh37	19	39517611	39517611	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	82	0	ENST00000292853.4:c.607A>T	p.Arg203Ter	p.R203*	ENST00000292853	NM_178820.3	203	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS12527.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCTGTACA	NONE	.	.	PROSITE_profiles:PS51114,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF9,Pfam_domain:PF04300,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	.	.	ENSP00000292853	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000292853	Transcript	.	.	ENSG00000161243	18753	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX27_HUMAN	FBXO27	HGNC	M0R1C3_HUMAN	.	UPI0000073006	SNV	FBXO27,stop_gained,p.Arg203Ter,ENST00000509137,;FBXO27,stop_gained,p.Arg203Ter,ENST00000292853,;FBXO27,stop_gained,p.Arg202Ter,ENST00000600828,;FBXO27,downstream_gene_variant,,ENST00000593847,;FBXO27,upstream_gene_variant,,ENST00000598394,;CTB-189B5.3,upstream_gene_variant,,ENST00000597303,;FBXO27,non_coding_transcript_exon_variant,,ENST00000594770,;FBXO27,non_coding_transcript_exon_variant,,ENST00000595166,;	727	82	73	SUCCESS
TTC9B	148014	.	GRCh37	19	40724111	40724111	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	19	0	ENST00000311308.6:c.178A>T	p.Ser60Cys	p.S60C	ENST00000311308	NM_152479.5	60	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS12550.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10516:SF113,hmmpanther:PTHR10516,Superfamily_domains:SSF48452	.	.	ENSP00000311760	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000311308	Transcript	.	.	ENSG00000174521	26395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious(0.01)	.	TTC9B_HUMAN	TTC9B	HGNC	.	.	UPI000006E8C1	SNV	TTC9B,missense_variant,p.Ser60Cys,ENST00000311308,;CNTD2,downstream_gene_variant,,ENST00000513948,;MAP3K10,downstream_gene_variant,,ENST00000253055,;CNTD2,downstream_gene_variant,,ENST00000599263,;CNTD2,downstream_gene_variant,,ENST00000430325,;TTC9B,non_coding_transcript_exon_variant,,ENST00000593586,;CNTD2,downstream_gene_variant,,ENST00000593335,;MAP3K10,downstream_gene_variant,,ENST00000594791,;MAP3K10,downstream_gene_variant,,ENST00000597986,;MAP3K10,downstream_gene_variant,,ENST00000593502,;CNTD2,downstream_gene_variant,,ENST00000221818,;	196	19	25	SUCCESS
PRX	57716	.	GRCh37	19	40903671	40903671	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	22	0	ENST00000324001.7:c.588A>T	p.Arg196=	p.R196=	ENST00000324001	NM_181882.2	196	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS33028.1	588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTCGTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	.	.	ENSP00000326018	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000324001	Transcript	1	.	ENSG00000105227	13797	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRAX_HUMAN	PRX	HGNC	.	.	UPI000044CC1A	SNV	PRX,synonymous_variant,p.%3D,ENST00000324001,;PRX,3_prime_UTR_variant,,ENST00000291825,;	859	22	18	SUCCESS
MAP2K2	5605	.	GRCh37	19	4117490	4117490	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	63	0	ENST00000262948.5:c.230A>G	p.Glu77Gly	p.E77G	ENST00000262948	NM_030662.3	77	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS12120.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTCTGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000262948	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262948	Transcript	1	.	ENSG00000126934	6842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	MP2K2_HUMAN	MAP2K2	HGNC	G5E9C7_HUMAN,B3KS97_HUMAN	.	UPI000012F489	SNV	MAP2K2,missense_variant,p.Glu77Gly,ENST00000262948,;MAP2K2,5_prime_UTR_variant,,ENST00000394867,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000599345,;	484	63	52	SUCCESS
ANKRD24	170961	.	GRCh37	19	4207906	4207906	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	36	79	0	ENST00000318934.4:c.773G>A	p.Gly258Glu	p.G258E	ENST00000318934		258	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS45925.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGGGACA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000471252	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000600132	Transcript	.	.	ENSG00000089847	29424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.09)	.	ANR24_HUMAN	ANKRD24	HGNC	.	.	UPI000041F5A9	SNV	ANKRD24,missense_variant,p.Gly348Glu,ENST00000262970,;ANKRD24,missense_variant,p.Gly258Glu,ENST00000600132,;ANKRD24,missense_variant,p.Gly229Glu,ENST00000597689,;ANKRD24,missense_variant,p.Gly258Glu,ENST00000318934,;RN7SL84P,upstream_gene_variant,,ENST00000578969,;ANKRD24,upstream_gene_variant,,ENST00000595096,;ANKRD24,downstream_gene_variant,,ENST00000595928,;	1049	79	76	SUCCESS
CEACAM6	4680	.	GRCh37	19	42265920	42265920	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	rs782652072	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	124	0	ENST00000199764.6:c.747C>G	p.Tyr249Ter	p.Y249*	ENST00000199764	NM_002483.4	249	taC/taG	0	.	.	.	.	.	G	Y/*	protein_coding	YES	CCDS12585.1	747	RADIA|MUTECT|MUSE	.	AATTACCGTCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF121,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000199764	.	4/6	.	.	.	.	.	.	.	.	rs782652072	4/6	PASS	ENST00000199764	Transcript	.	.	ENSG00000086548	1818	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CEAM6_HUMAN	CEACAM6	HGNC	Q13985_HUMAN,M0QYD3_HUMAN	.	UPI000006DF42	SNV	CEACAM6,stop_gained,p.Tyr249Ter,ENST00000199764,;CEA,downstream_gene_variant,,ENST00000598976,;AC011513.4,intron_variant,,ENST00000601409,;	965	124	100	SUCCESS
LYPD4	147719	.	GRCh37	19	42342129	42342129	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	111	0	ENST00000330743.3:c.418T>G	p.Cys140Gly	p.C140G	ENST00000330743	NM_173506.4	140	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS12587.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACAGGACG	NONE	.	.	Superfamily_domains:SSF57302,hmmpanther:PTHR16529:SF6,hmmpanther:PTHR16529	.	.	ENSP00000328737	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000330743	Transcript	.	.	ENSG00000183103	28659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.47)	.	LYPD4_HUMAN	LYPD4	HGNC	A8K8E0_HUMAN	.	UPI0000366E14	SNV	LYPD4,missense_variant,p.Cys105Gly,ENST00000343055,;LYPD4,missense_variant,p.Cys140Gly,ENST00000330743,;LYPD4,missense_variant,p.Cys105Gly,ENST00000601246,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	1630	111	91	SUCCESS
ATP1A3	478	.	GRCh37	19	42471493	42471493	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	20	0	ENST00000302102.5:c.2922-1G>T		p.X974_splice	ENST00000302102	NM_152296.4	974		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58664.1	.	MUTECT|MUSE	.	TGGGCCTGCAG	NONE	.	.	.	.	.	ENSP00000444688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000545399	Transcript	1	.	ENSG00000105409	801	.	.	HIGH	21/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT1A3_HUMAN	ATP1A3	HGNC	Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN	.	UPI0001914BDE	SNV	ATP1A3,splice_acceptor_variant,,ENST00000602133,;ATP1A3,splice_acceptor_variant,,ENST00000545399,;ATP1A3,splice_acceptor_variant,,ENST00000543770,;ATP1A3,splice_acceptor_variant,,ENST00000302102,;ATP1A3,splice_acceptor_variant,,ENST00000441343,;	.	20	20	SUCCESS
CCDC94	0	.	GRCh37	19	4249223	4249223	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	78	0	ENST00000262962.7:c.25-2A>G		p.X9_splice	ENST00000262962	NM_018074.4	9		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12124.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGAAAT	NONE	.	.	.	.	.	ENSP00000262962	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262962	Transcript	.	.	ENSG00000105248	25518	.	.	HIGH	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD94_HUMAN	CCDC94	HGNC	Q7LE05_HUMAN,M0R2S3_HUMAN	.	UPI000006CF6B	SNV	CCDC94,splice_acceptor_variant,,ENST00000596496,;CCDC94,splice_acceptor_variant,,ENST00000262962,;	.	78	67	SUCCESS
POU2F2	5452	.	GRCh37	19	42621499	42621499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	17	24	0	ENST00000526816.2:c.206G>T	p.Ser69Ile	p.S69I	ENST00000526816		69	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS56095.1	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCACTGGGG	NONE	.	.	hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF46	.	.	ENSP00000431603	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000526816	Transcript	.	.	ENSG00000028277	9213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.605)	.	deleterious(0.02)	.	PO2F2_HUMAN	POU2F2	HGNC	Q9UMJ4_HUMAN,Q9UMI6_HUMAN	.	UPI0000186851	SNV	POU2F2,missense_variant,p.Ser91Ile,ENST00000560398,;POU2F2,missense_variant,p.Ser69Ile,ENST00000526816,;POU2F2,missense_variant,p.Ser69Ile,ENST00000533720,;POU2F2,missense_variant,p.Ser87Ile,ENST00000560804,;POU2F2,missense_variant,p.Ser69Ile,ENST00000529952,;POU2F2,missense_variant,p.Ser63Ile,ENST00000528894,;POU2F2,missense_variant,p.Ser69Ile,ENST00000389341,;POU2F2,missense_variant,p.Ser69Ile,ENST00000342301,;POU2F2,missense_variant,p.Ser69Ile,ENST00000529067,;POU2F2,intron_variant,,ENST00000560558,;POU2F2,downstream_gene_variant,,ENST00000558596,;POU2F2,upstream_gene_variant,,ENST00000526831,;POU2F2,non_coding_transcript_exon_variant,,ENST00000532176,;POU2F2,non_coding_transcript_exon_variant,,ENST00000524801,;POU2F2,non_coding_transcript_exon_variant,,ENST00000531773,;POU2F2,missense_variant,p.Ser69Ile,ENST00000534559,;POU2F2,non_coding_transcript_exon_variant,,ENST00000530982,;	222	24	29	SUCCESS
CIC	23152	.	GRCh37	19	42793207	42793207	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	32	0	ENST00000575354.2:c.1099G>C	p.Glu367Gln	p.E367Q	ENST00000575354	NM_015125.3	367	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS12601.1	1099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAGAAGTA	NONE	.	.	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	.	.	ENSP00000458663	.	7/20	.	.	.	.	.	.	.	.	COSM3422858	7/20	PASS	ENST00000575354	Transcript	.	.	ENSG00000079432	14214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.918)	.	.	1	CIC_HUMAN	CIC	HGNC	.	.	UPI000013C5A0	SNV	CIC,missense_variant,p.Glu367Gln,ENST00000575354,;CIC,missense_variant,p.Glu1276Gln,ENST00000572681,;CIC,missense_variant,p.Glu367Gln,ENST00000160740,;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;CIC,downstream_gene_variant,,ENST00000575839,;CIC,upstream_gene_variant,,ENST00000575287,;	1139	32	28	SUCCESS
CXCL17	284340	.	GRCh37	19	42937971	42937971	+	synonymous_variant	Silent	SNP	A	A	G	rs545020215	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	17	43	0	ENST00000601181.1:c.117T>C	p.Ser39=	p.S39=	ENST00000601181	NM_198477.1	39	tcT/tcC	0	.	G:0	.	G:0	.	G	S	protein_coding	YES	CCDS12608.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTAGAAGC	NONE	byFrequency|by1000G	.	Pfam_domain:PF15211	G:0	.	ENSP00000472467	G:0	2/4	.	.	.	.	.	.	.	.	rs545020215	2/4	PASS	ENST00000601181	Transcript	.	G:0.0014	ENSG00000189377	19232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0072	.	.	VCC1_HUMAN	CXCL17	HGNC	.	.	UPI00000389D5	SNV	CXCL17,synonymous_variant,p.%3D,ENST00000601181,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000457234,;LIPE-AS1,intron_variant,,ENST00000593740,;LIPE-AS1,intron_variant,,ENST00000594624,;CXCL17,synonymous_variant,p.%3D,ENST00000341918,;	333	43	29	SUCCESS
PSG3	5671	.	GRCh37	19	43233999	43233999	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	28	0	ENST00000327495.5:c.919C>A	p.Pro307Thr	p.P307T	ENST00000327495	NM_021016.3	307	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS12611.1	919	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGGTCCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000332215	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000327495	Transcript	.	.	ENSG00000221826	9520	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	tolerated(0.56)	.	PSG3_HUMAN	PSG3	HGNC	.	.	UPI0000073DC1	SNV	PSG3,missense_variant,p.Pro307Thr,ENST00000595140,;PSG3,missense_variant,p.Pro307Thr,ENST00000327495,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,downstream_gene_variant,,ENST00000597009,;	1104	28	19	SUCCESS
STAP2	55620	.	GRCh37	19	4333984	4333984	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	32	62	0	ENST00000594605.1:c.160A>T	p.Asn54Tyr	p.N54Y	ENST00000594605	NM_001013841.1	54	Aat/Tat	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS12128.1	160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGATTGCTAT	NONE	.	.	hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF2,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000468927	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000600324	Transcript	.	.	ENSG00000178078	30430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0.02)	.	STAP2_HUMAN	STAP2	HGNC	.	.	UPI00001AF0BC	SNV	STAP2,missense_variant,p.Asn54Tyr,ENST00000594605,;STAP2,missense_variant,p.Asn54Tyr,ENST00000600324,;STAP2,missense_variant,p.Asn54Tyr,ENST00000601482,;STAP2,synonymous_variant,p.%3D,ENST00000599736,;STAP2,upstream_gene_variant,,ENST00000601179,;	228	62	61	SUCCESS
PSG10P	653492	.	GRCh37	19	43348759	43348759	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	16	0	ENST00000501199.4:n.1250C>A		p.*417*	ENST00000501199				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE	.	GGTCTGGACCA	NONE	.	.	.	.	.	.	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000501199	Transcript	.	.	ENSG00000248257	9515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PSG10P	HGNC	.	.	.	SNV	PSG8,intron_variant,,ENST00000401467,;PSG10P,non_coding_transcript_exon_variant,,ENST00000597171,;PSG10P,non_coding_transcript_exon_variant,,ENST00000501199,;	1250	16	10	SUCCESS
PSG6	5675	.	GRCh37	19	43412004	43412004	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	23	39	0	ENST00000292125.2:c.709A>G	p.Lys237Glu	p.K237E	ENST00000292125	NM_002782.4	237	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS12613.1	709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTCGCTG	NONE	.	.	hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955	.	.	ENSP00000292125	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000292125	Transcript	.	.	ENSG00000170848	9523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.7)	.	PSG6_HUMAN	PSG6	HGNC	.	.	UPI00001327A1	SNV	PSG6,missense_variant,p.Lys237Glu,ENST00000187910,;PSG6,missense_variant,p.Lys116Glu,ENST00000594375,;PSG6,missense_variant,p.Lys237Glu,ENST00000292125,;PSG6,intron_variant,,ENST00000402603,;PSG6,3_prime_UTR_variant,,ENST00000599753,;PSG6,intron_variant,,ENST00000595062,;PSG6,downstream_gene_variant,,ENST00000402456,;PSG6,downstream_gene_variant,,ENST00000484292,;	754	39	38	SUCCESS
LYPD3	27076	.	GRCh37	19	43969695	43969695	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	24	0	ENST00000244333.3:c.29A>T	p.Gln10Leu	p.Q10L	ENST00000244333	NM_014400.2	10	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS12620.1	29	RADIA|MUTECT|MUSE	.	TGGCCTGGGCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10624:SF6,hmmpanther:PTHR10624	.	.	ENSP00000244333	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000244333	Transcript	.	.	ENSG00000124466	24880	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.17)	.	LYPD3_HUMAN	LYPD3	HGNC	B2RBR3_HUMAN	.	UPI000000D965	SNV	LYPD3,missense_variant,p.Gln10Leu,ENST00000244333,;LYPD3,non_coding_transcript_exon_variant,,ENST00000597741,;LYPD3,non_coding_transcript_exon_variant,,ENST00000595970,;LYPD3,upstream_gene_variant,,ENST00000594326,;	118	24	23	SUCCESS
ZNF221	7638	.	GRCh37	19	44470227	44470227	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	81	0	ENST00000587682.1:c.573A>T	p.Ser191=	p.S191=	ENST00000587682		191	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12633.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCACACTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24388:SF3,hmmpanther:PTHR24388,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000251269	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000251269	Transcript	.	.	ENSG00000159905	13014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN221_HUMAN	ZNF221	HGNC	Q16646_HUMAN,K7EIT6_HUMAN	.	UPI000013CCF3	SNV	ZNF221,synonymous_variant,p.%3D,ENST00000592350,;ZNF221,synonymous_variant,p.%3D,ENST00000587682,;ZNF221,synonymous_variant,p.%3D,ENST00000251269,;ZNF155,upstream_gene_variant,,ENST00000590411,;ZNF221,downstream_gene_variant,,ENST00000591168,;	901	81	51	SUCCESS
ZNF230	7773	.	GRCh37	19	44515114	44515114	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	83	0	ENST00000429154.2:c.923A>G	p.Tyr308Cys	p.Y308C	ENST00000429154	NM_006300.3	308	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33044.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTACAAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF176,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000409318	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429154	Transcript	.	.	ENSG00000159882	13024	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0.02)	.	ZN230_HUMAN	ZNF230	HGNC	K7EMK6_HUMAN	.	UPI000016960C	SNV	ZNF230,missense_variant,p.Tyr308Cys,ENST00000429154,;ZNF230,downstream_gene_variant,,ENST00000585491,;ZNF230,downstream_gene_variant,,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;	1151	83	51	SUCCESS
ZNF224	7767	.	GRCh37	19	44610721	44610721	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	67	0	ENST00000336976.6:c.408A>T	p.Ala136=	p.A136=	ENST00000336976	NM_013398.2	136	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33046.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGGACT	NONE	.	.	hmmpanther:PTHR24377:SF254,hmmpanther:PTHR24377	.	.	ENSP00000337368	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000336976	Transcript	.	.	ENSG00000267680	13017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN224_HUMAN	ZNF224	HGNC	Q9HCA8_HUMAN,K7ENI7_HUMAN,K7EL24_HUMAN,K7EJ30_HUMAN	.	UPI00002025B3	SNV	ZNF224,synonymous_variant,p.%3D,ENST00000336976,;ZNF224,downstream_gene_variant,,ENST00000591511,;AC084219.4,non_coding_transcript_exon_variant,,ENST00000592946,;ZNF224,non_coding_transcript_exon_variant,,ENST00000591551,;	662	67	73	SUCCESS
ZNF112	7771	.	GRCh37	19	44832441	44832441	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	44	137	0	ENST00000337401.4:c.1887A>T	p.Arg629Ser	p.R629S	ENST00000337401	NM_001083335.1	629	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS54276.1	1887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACTCTCTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF1,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337081	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337401	Transcript	.	.	ENSG00000062370	12892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	ZN112_HUMAN	ZNF112	HGNC	Q9UFH1_HUMAN,K7ENS0_HUMAN,K7EN57_HUMAN	.	UPI000006EC70	SNV	ZNF112,missense_variant,p.Arg646Ser,ENST00000536500,;ZNF112,missense_variant,p.Arg629Ser,ENST00000337401,;ZNF112,missense_variant,p.Arg623Ser,ENST00000354340,;ZNF112,downstream_gene_variant,,ENST00000587909,;CTC-512J12.6,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000588057,;ZNF112,downstream_gene_variant,,ENST00000592151,;	1976	137	102	SUCCESS
ZNF112	7771	.	GRCh37	19	44833042	44833042	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	73	0	ENST00000337401.4:c.1286A>C	p.Asn429Thr	p.N429T	ENST00000337401	NM_001083335.1	429	aAt/aCt	0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS54276.1	1286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATTTGAA	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF1,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000337081	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337401	Transcript	.	.	ENSG00000062370	12892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0.01)	.	ZN112_HUMAN	ZNF112	HGNC	Q9UFH1_HUMAN,K7ENS0_HUMAN,K7EN57_HUMAN	.	UPI000006EC70	SNV	ZNF112,missense_variant,p.Asn446Thr,ENST00000536500,;ZNF112,missense_variant,p.Asn429Thr,ENST00000337401,;ZNF112,missense_variant,p.Asn423Thr,ENST00000354340,;ZNF112,downstream_gene_variant,,ENST00000587909,;CTC-512J12.6,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000588057,;ZNF112,downstream_gene_variant,,ENST00000592151,;	1375	73	79	SUCCESS
ZNF229	7772	.	GRCh37	19	44947141	44947141	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	15	0	ENST00000588931.1:c.-110T>A		p.*37*	ENST00000588931	NM_014518.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42574.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAAGCTC	NONE	.	.	.	.	.	ENSP00000466519	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,5_prime_UTR_variant,,ENST00000592308,;ZNF229,5_prime_UTR_variant,,ENST00000588931,;ZNF229,5_prime_UTR_variant,,ENST00000291187,;CTC-512J12.4,non_coding_transcript_exon_variant,,ENST00000588655,;ZNF229,non_coding_transcript_exon_variant,,ENST00000591289,;ZNF229,5_prime_UTR_variant,,ENST00000591604,;	325	15	17	SUCCESS
RSPH6A	81492	.	GRCh37	19	46318016	46318016	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	22	72	0	ENST00000221538.3:c.419A>T	p.Glu140Val	p.E140V	ENST00000221538	NM_030785.3	140	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS12675.1	419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTCCTGG	NONE	.	.	hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF1	.	.	ENSP00000221538	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000221538	Transcript	.	.	ENSG00000104941	14241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	deleterious_low_confidence(0.01)	.	RSH6A_HUMAN	RSPH6A	HGNC	M0R103_HUMAN	.	UPI0000037C58	SNV	RSPH6A,missense_variant,p.Glu140Val,ENST00000221538,;RSPH6A,missense_variant,p.Glu140Val,ENST00000597055,;RSPH6A,upstream_gene_variant,,ENST00000600188,;SYMPK,downstream_gene_variant,,ENST00000245934,;SYMPK,downstream_gene_variant,,ENST00000598155,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000600237,;SYMPK,downstream_gene_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000596824,;SYMPK,downstream_gene_variant,,ENST00000598329,;	562	72	49	SUCCESS
ARHGAP35	2909	.	GRCh37	19	47425269	47425269	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	42	142	0	ENST00000404338.3:c.3337C>T	p.Gln1113Ter	p.Q1113*	ENST00000404338	NM_004491.4	1113	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS46127.1	3337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCCAAGGC	NONE	.	.	hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26	.	.	ENSP00000385720	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000404338	Transcript	.	.	ENSG00000160007	4591	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG35_HUMAN	ARHGAP35	HGNC	.	.	UPI0000163F71	SNV	ARHGAP35,stop_gained,p.Gln1113Ter,ENST00000404338,;	3337	142	95	SUCCESS
KPTN	11133	.	GRCh37	19	47986778	47986778	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	101	0	ENST00000338134.3:c.290T>A	p.Val97Glu	p.V97E	ENST00000338134	NM_007059.2	97	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS42583.1	290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACAACC	NONE	.	.	hmmpanther:PTHR15435:SF2,hmmpanther:PTHR15435	.	.	ENSP00000337850	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000338134	Transcript	1	.	ENSG00000118162	6404	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	KPTN_HUMAN	KPTN	HGNC	M0R238_HUMAN,M0QZ83_HUMAN,B4DQ76_HUMAN	.	UPI000007002E	SNV	KPTN,missense_variant,p.Val97Glu,ENST00000338134,;KPTN,5_prime_UTR_variant,,ENST00000536339,;KPTN,5_prime_UTR_variant,,ENST00000600271,;KPTN,intron_variant,,ENST00000595554,;NAPA,downstream_gene_variant,,ENST00000595227,;NAPA,downstream_gene_variant,,ENST00000263354,;NAPA-AS1,upstream_gene_variant,,ENST00000594367,;NAPA-AS1,upstream_gene_variant,,ENST00000593284,;KPTN,non_coding_transcript_exon_variant,,ENST00000595484,;KPTN,non_coding_transcript_exon_variant,,ENST00000602193,;KPTN,non_coding_transcript_exon_variant,,ENST00000598699,;KPTN,missense_variant,p.Val97Glu,ENST00000594208,;KPTN,non_coding_transcript_exon_variant,,ENST00000594139,;NAPA,downstream_gene_variant,,ENST00000597778,;NAPA,downstream_gene_variant,,ENST00000594001,;NAPA,downstream_gene_variant,,ENST00000597271,;NAPA,downstream_gene_variant,,ENST00000594217,;	398	101	73	SUCCESS
GLTSCR1	0	.	GRCh37	19	48197947	48197947	+	synonymous_variant	Silent	SNP	G	G	T	rs773690432	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	31	0	ENST00000396720.3:c.2859G>T	p.Leu953=	p.L953=	ENST00000396720	NM_015711.3	953	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS46134.1	2859	MUTECT|MUSE	.	GCGCTGCCCCA	NONE	byFrequency	.	hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572	.	.	ENSP00000379946	.	8/15	.	.	.	.	.	.	.	.	rs773690432	8/15	PASS	ENST00000396720	Transcript	.	.	ENSG00000063169	4332	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GSCR1_HUMAN	GLTSCR1	HGNC	M0QYC3_HUMAN	.	UPI00016278EE	SNV	GLTSCR1,synonymous_variant,p.%3D,ENST00000396720,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	3053	31	36	SUCCESS
ELSPBP1	64100	.	GRCh37	19	48519284	48519284	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	17	74	0	ENST00000339841.2:c.343T>G	p.Cys115Gly	p.C115G	ENST00000339841	NM_022142.4	115	Tgt/Ggt	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS12708.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCTGTGAA	NONE	.	.	PROSITE_profiles:PS51092,hmmpanther:PTHR22918:SF5,hmmpanther:PTHR22918,Gene3D:2.10.10.10,Pfam_domain:PF00040,SMART_domains:SM00059,Superfamily_domains:SSF57440	.	.	ENSP00000340660	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000339841	Transcript	.	.	ENSG00000169393	14417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.856)	.	deleterious(0.01)	.	ESPB1_HUMAN	ELSPBP1	HGNC	M0QZH6_HUMAN	.	UPI000013EA82	SNV	ELSPBP1,missense_variant,p.Cys46Gly,ENST00000593782,;ELSPBP1,missense_variant,p.Cys115Gly,ENST00000339841,;ELSPBP1,missense_variant,p.Cys69Gly,ENST00000596043,;ELSPBP1,intron_variant,,ENST00000597519,;ELSPBP1,upstream_gene_variant,,ENST00000593413,;	521	74	54	SUCCESS
PLA2G4C	8605	.	GRCh37	19	48551611	48551611	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	21	41	0	ENST00000599921.1:c.1615T>G	p.Cys539Gly	p.C539G	ENST00000599921		539	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS59403.1	1645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCAGCAAC	NONE	.	.	PROSITE_profiles:PS51210	.	.	ENSP00000472546	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated_low_confidence(0.29)	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,missense_variant,p.Cys539Gly,ENST00000599921,;PLA2G4C,missense_variant,p.Cys539Gly,ENST00000413144,;PLA2G4C,missense_variant,p.Cys549Gly,ENST00000599111,;PLA2G4C,3_prime_UTR_variant,,ENST00000354276,;CABP5,upstream_gene_variant,,ENST00000293255,;AC010458.1,downstream_gene_variant,,ENST00000408668,;PLA2G4C,downstream_gene_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000594790,;CABP5,upstream_gene_variant,,ENST00000602032,;	1947	41	36	SUCCESS
ARRDC5	645432	.	GRCh37	19	4902726	4902726	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	58	125	0	ENST00000381781.2:c.154C>A	p.Pro52Thr	p.P52T	ENST00000381781	NM_001080523.1	52	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45929.1	154	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGGGTCCA	NONE	.	.	hmmpanther:PTHR11188:SF56,hmmpanther:PTHR11188,Pfam_domain:PF00339,Superfamily_domains:SSF81296	.	.	ENSP00000371200	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381781	Transcript	.	.	ENSG00000205784	31407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	ARRD5_HUMAN	ARRDC5	HGNC	.	.	UPI0000DD84C9	SNV	ARRDC5,missense_variant,p.Pro52Thr,ENST00000381781,;UHRF1,upstream_gene_variant,,ENST00000592666,;	154	125	110	SUCCESS
FGF21	26291	.	GRCh37	19	49261303	49261303	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	52	173	0	ENST00000222157.3:c.456A>T	p.Pro152=	p.P152=	ENST00000222157	NM_019113.2	152	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12734.1	456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACACCG	NONE	.	.	hmmpanther:PTHR11486:SF62,hmmpanther:PTHR11486,Gene3D:2.80.10.50,PIRSF_domain:PIRSF037961,SMART_domains:SM00442,Superfamily_domains:SSF50353	.	.	ENSP00000471477	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000593756	Transcript	.	.	ENSG00000105550	3678	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF21_HUMAN	FGF21	HGNC	.	.	UPI000003BE44	SNV	FGF21,synonymous_variant,p.%3D,ENST00000593756,;FGF21,synonymous_variant,p.%3D,ENST00000222157,;FUT1,upstream_gene_variant,,ENST00000310160,;FUT1,upstream_gene_variant,,ENST00000601931,;FUT1,upstream_gene_variant,,ENST00000597220,;FUT1,upstream_gene_variant,,ENST00000599826,;FUT1,upstream_gene_variant,,ENST00000601988,;	1028	173	153	SUCCESS
GYS1	2997	.	GRCh37	19	49473817	49473817	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	53	0	ENST00000323798.3:c.1795A>G	p.Lys599Glu	p.K599E	ENST00000323798	NM_002103.4	599	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS12747.1	1795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTTCCAGT	NONE	.	.	hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF2,Pfam_domain:PF05693,Superfamily_domains:SSF53756	.	.	ENSP00000317904	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000323798	Transcript	1	.	ENSG00000104812	4706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	.	tolerated(0.06)	.	GYS1_HUMAN	GYS1	HGNC	F5H1N8_HUMAN	.	UPI0000000C44	SNV	GYS1,missense_variant,p.Lys232Glu,ENST00000544287,;GYS1,missense_variant,p.Lys535Glu,ENST00000263276,;GYS1,missense_variant,p.Lys599Glu,ENST00000323798,;GYS1,missense_variant,p.Lys519Glu,ENST00000541188,;GYS1,missense_variant,p.Lys51Glu,ENST00000594220,;GYS1,downstream_gene_variant,,ENST00000540532,;FTL,downstream_gene_variant,,ENST00000331825,;GYS1,downstream_gene_variant,,ENST00000496048,;GYS1,downstream_gene_variant,,ENST00000472004,;	1992	53	45	SUCCESS
TRPM4	54795	.	GRCh37	19	49703938	49703938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	34	0	ENST00000252826.5:c.2849G>T	p.Gly950Val	p.G950V	ENST00000252826	NM_017636.3	950	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS33073.1	2849	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGGCTCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800	.	.	ENSP00000252826	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000252826	Transcript	1	.	ENSG00000130529	17993	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	TRPM4_HUMAN	TRPM4	HGNC	.	.	UPI0000070598	SNV	TRPM4,missense_variant,p.Gly596Val,ENST00000355712,;TRPM4,missense_variant,p.Gly805Val,ENST00000427978,;TRPM4,missense_variant,p.Gly950Val,ENST00000252826,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,downstream_gene_variant,,ENST00000595882,;	2975	34	34	SUCCESS
SCAF1	58506	.	GRCh37	19	50154181	50154181	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	68	0	ENST00000360565.3:c.535A>C	p.Thr179Pro	p.T179P	ENST00000360565	NM_021228.2	179	Acg/Ccg	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS33074.1	535	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCACGGGA	NONE	.	.	hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2	.	.	ENSP00000353769	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000360565	Transcript	.	.	ENSG00000126461	30403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SFR19_HUMAN	SCAF1	HGNC	M0R3G4_HUMAN,M0R2L3_HUMAN	.	UPI0000071891	SNV	SCAF1,missense_variant,p.Thr179Pro,ENST00000360565,;SCAF1,missense_variant,p.Thr179Pro,ENST00000598359,;SCAF1,downstream_gene_variant,,ENST00000595242,;SCAF1,downstream_gene_variant,,ENST00000601038,;	659	68	58	SUCCESS
SIGLEC11	114132	.	GRCh37	19	50453266	50453266	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	95	0	ENST00000447370.2:c.2058T>A	p.Leu686=	p.L686=	ENST00000447370	NM_052884.2	686	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS12790.2	2058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGAAGCCC	NONE	.	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44	.	.	ENSP00000412361	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000447370	Transcript	.	.	ENSG00000161640	15622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIG11_HUMAN	SIGLEC11	HGNC	H7BZU6_HUMAN	.	UPI00018131F5	SNV	SIGLEC11,synonymous_variant,p.%3D,ENST00000426971,;SIGLEC11,synonymous_variant,p.%3D,ENST00000447370,;U3,upstream_gene_variant,,ENST00000408198,;SIGLEC11,3_prime_UTR_variant,,ENST00000426296,;CTC-326K19.6,intron_variant,,ENST00000451973,;	2149	95	66	SUCCESS
NAPSA	9476	.	GRCh37	19	50861904	50861904	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs768316343	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	98	0	ENST00000253719.2:c.1169T>G	p.Met390Arg	p.M390R	ENST00000253719	NM_004851.1	390	aTg/aGg	0	.	.	.	.	.	C	M/R	protein_coding	YES	CCDS12794.1	1169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCATGTCC	NONE	.	.	Superfamily_domains:SSF50630,Gene3D:2.40.70.10,Pfam_domain:PF00026,hmmpanther:PTHR13683:SF237,hmmpanther:PTHR13683	.	.	ENSP00000253719	.	9/9	.	.	.	.	.	.	.	.	rs768316343	9/9	PASS	ENST00000253719	Transcript	.	.	ENSG00000131400	13395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.57)	.	NAPSA_HUMAN	NAPSA	HGNC	.	.	UPI0000046F0E	SNV	NAPSA,missense_variant,p.Met390Arg,ENST00000253719,;NR1H2,intron_variant,,ENST00000600355,;NR1H2,intron_variant,,ENST00000542413,;NAPSA,downstream_gene_variant,,ENST00000598915,;NR1H2,intron_variant,,ENST00000600978,;NAPSA,non_coding_transcript_exon_variant,,ENST00000599181,;NAPSA,non_coding_transcript_exon_variant,,ENST00000598044,;NR1H2,intron_variant,,ENST00000593532,;NAPSA,downstream_gene_variant,,ENST00000596653,;NAPSA,downstream_gene_variant,,ENST00000599233,;NAPSA,downstream_gene_variant,,ENST00000597378,;	1378	99	62	SUCCESS
JOSD2	126119	.	GRCh37	19	51010832	51010832	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	10	0	ENST00000598418.1:c.271A>G	p.Arg91Gly	p.R91G	ENST00000598418	NM_001270639.1	91	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS12797.1	271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTCCTCC	NONE	.	.	PROSITE_profiles:PS50957,hmmpanther:PTHR13291,hmmpanther:PTHR13291:SF2,Pfam_domain:PF02099	.	.	ENSP00000468956	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000598418	Transcript	.	.	ENSG00000161677	28853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0.05)	.	JOS2_HUMAN	JOSD2	HGNC	Q7Z7N5_HUMAN,M0QZL8_HUMAN	.	UPI000012DABE	SNV	JOSD2,missense_variant,p.Arg91Gly,ENST00000601423,;JOSD2,missense_variant,p.Arg91Gly,ENST00000598418,;JOSD2,missense_variant,p.Arg91Gly,ENST00000391815,;JOSD2,missense_variant,p.Arg91Gly,ENST00000594350,;JOSD2,intron_variant,,ENST00000595669,;ASPDH,downstream_gene_variant,,ENST00000601207,;ASPDH,downstream_gene_variant,,ENST00000376916,;ASPDH,downstream_gene_variant,,ENST00000389208,;ASPDH,downstream_gene_variant,,ENST00000597030,;JOSD2,splice_region_variant,,ENST00000602146,;JOSD2,downstream_gene_variant,,ENST00000595718,;ASPDH,downstream_gene_variant,,ENST00000601287,;ASPDH,downstream_gene_variant,,ENST00000597232,;	525	10	19	SUCCESS
SHANK1	50944	.	GRCh37	19	51189492	51189492	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	44	0	ENST00000293441.1:c.2577+2T>C		p.X859_splice	ENST00000293441	NM_016148.2	859		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12799.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTACCTCA	NONE	.	.	.	.	.	ENSP00000293441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293441	Transcript	1	.	ENSG00000161681	15474	.	.	HIGH	20/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHAN1_HUMAN	SHANK1	HGNC	.	.	UPI000013E109	SNV	SHANK1,splice_donor_variant,,ENST00000391814,;SHANK1,splice_donor_variant,,ENST00000391813,;SHANK1,splice_donor_variant,,ENST00000359082,;SHANK1,splice_donor_variant,,ENST00000293441,;	.	44	17	SUCCESS
KLK3	354	.	GRCh37	19	51362982	51362982	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	22	0	ENST00000326003.2:c.631-246G>T		p.*211*	ENST00000326003	NM_001030047.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12807.1	.	RADIA|MUTECT	.	TCGTGGACCCT	NONE	.	.	.	.	.	ENSP00000314151	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326003	Transcript	.	.	ENSG00000142515	6364	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK3_HUMAN	KLK3	HGNC	Q6LDS3_HUMAN,Q546G3_HUMAN	.	UPI0000001C9E	SNV	KLK3,3_prime_UTR_variant,,ENST00000597483,;KLK3,3_prime_UTR_variant,,ENST00000360617,;KLK3,intron_variant,,ENST00000598145,;KLK3,intron_variant,,ENST00000326003,;KLK3,intron_variant,,ENST00000595952,;KLK3,downstream_gene_variant,,ENST00000597286,;KLK3,downstream_gene_variant,,ENST00000601503,;KLK2,upstream_gene_variant,,ENST00000593493,;KLK3,downstream_gene_variant,,ENST00000593997,;KLK3,intron_variant,,ENST00000601349,;KLK3,intron_variant,,ENST00000596333,;KLK3,intron_variant,,ENST00000596185,;KLK3,intron_variant,,ENST00000595392,;KLK3,intron_variant,,ENST00000601812,;KLK3,intron_variant,,ENST00000422986,;KLK3,downstream_gene_variant,,ENST00000595151,;	.	22	12	SUCCESS
KLK8	11202	.	GRCh37	19	51503677	51503677	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	22	70	0	ENST00000600767.1:c.230+3G>T		p.X77_splice	ENST00000600767		77		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42600.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCACGGT	NONE	.	.	.	.	.	ENSP00000375682	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000391806	Transcript	.	.	ENSG00000129455	6369	.	.	LOW	3/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLK8_HUMAN	KLK8	HGNC	B3FQ95_HUMAN	.	UPI000002ACDB	SNV	KLK8,splice_region_variant,,ENST00000291726,;KLK8,splice_region_variant,,ENST00000391806,;KLK8,splice_region_variant,,ENST00000600767,;KLK8,splice_region_variant,,ENST00000595238,;KLK8,intron_variant,,ENST00000347619,;KLK8,intron_variant,,ENST00000320838,;KLK8,intron_variant,,ENST00000593490,;KLK9,downstream_gene_variant,,ENST00000376832,;KLK9,downstream_gene_variant,,ENST00000594211,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK8,non_coding_transcript_exon_variant,,ENST00000599710,;KLK8,intron_variant,,ENST00000594669,;KLK9,intron_variant,,ENST00000599166,;KLK9,downstream_gene_variant,,ENST00000250366,;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594914,;	.	70	39	SUCCESS
SIGLECL1	284369	.	GRCh37	19	51768725	51768725	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	113	0	ENST00000316401.7:c.126A>T	p.Gly42=	p.G42=	ENST00000316401	NM_173635.1	42	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS12827.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGAGGAGT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR12035	.	.	ENSP00000321249	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000316401	Transcript	.	.	ENSG00000179213	26856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL1_HUMAN	SIGLECL1	HGNC	M0QY54_HUMAN,M0QY48_HUMAN	.	UPI000006D35D	SNV	SIGLECL1,synonymous_variant,p.%3D,ENST00000316401,;SIGLECL1,synonymous_variant,p.%3D,ENST00000597610,;SIGLECL1,synonymous_variant,p.%3D,ENST00000601727,;SIGLECL1,intron_variant,,ENST00000597824,;SIGLECL1,downstream_gene_variant,,ENST00000596117,;CTD-3187F8.2,intron_variant,,ENST00000597569,;SIGLECL1,intron_variant,,ENST00000593968,;SIGLECL1,downstream_gene_variant,,ENST00000599553,;	507	113	79	SUCCESS
IGLON5	402665	.	GRCh37	19	51828607	51828607	+	synonymous_variant	Silent	SNP	C	C	A	rs1460547669	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	57	0	ENST00000270642.8:c.399C>A	p.Ala133=	p.A133=	ENST00000270642	NM_001101372.1	133	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46158.1	399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCCGCAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF9,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000270642	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000270642	Transcript	.	.	ENSG00000142549	34550	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGLO5_HUMAN	IGLON5	HGNC	.	.	UPI000058F1A8	SNV	IGLON5,synonymous_variant,p.%3D,ENST00000270642,;	399	57	43	SUCCESS
LIM2	3982	.	GRCh37	19	51885739	51885739	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201810597	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	57	0	ENST00000596399.1:c.258C>A	p.Phe86Leu	p.F86L	ENST00000596399	NM_001161748.1	86	ttC/ttA	0	.	A:0	.	A:0	.	T	F/L	protein_coding	YES	CCDS12831.1	384	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGCGAAGGC	NONE	byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF9,Pfam_domain:PF00822	A:0.001	.	ENSP00000221973	A:0	3/5	.	.	.	.	.	.	.	.	rs201810597	3/5	PASS	ENST00000221973	Transcript	1	A:0.0002	ENSG00000105370	6610	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.073)	A:0	tolerated(0.16)	.	LMIP_HUMAN	LIM2	HGNC	.	.	UPI000002AD52	SNV	LIM2,missense_variant,p.Phe128Leu,ENST00000221973,;LIM2,missense_variant,p.Phe86Leu,ENST00000596399,;	427	57	36	SUCCESS
SIGLEC8	27181	.	GRCh37	19	51958812	51958812	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764375972	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	67	0	ENST00000321424.3:c.911C>T	p.Pro304Leu	p.P304L	ENST00000321424	NM_014442.2	304	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS33086.1	911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGGGGCAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000321077	.	4/7	.	.	.	.	.	.	.	.	rs764375972	4/7	PASS	ENST00000321424	Transcript	.	.	ENSG00000105366	10877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	SIGL8_HUMAN	SIGLEC8	HGNC	.	.	UPI000013598B	SNV	SIGLEC8,missense_variant,p.Pro211Leu,ENST00000340550,;SIGLEC8,missense_variant,p.Pro304Leu,ENST00000321424,;SIGLEC8,missense_variant,p.Pro195Leu,ENST00000430817,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	978	67	42	SUCCESS
SIGLEC12	89858	.	GRCh37	19	52003208	52003208	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1407631496	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	81	0	ENST00000291707.3:c.774C>A	p.Asn258Lys	p.N258K	ENST00000291707	NM_053003.2	258	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS12833.1	774	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTAGTTCCA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43	.	.	ENSP00000291707	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000291707	Transcript	.	.	ENSG00000254521	15482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	deleterious(0.01)	.	SIG12_HUMAN	SIGLEC12	HGNC	.	.	UPI0000135992	SNV	SIGLEC12,missense_variant,p.Asn258Lys,ENST00000291707,;SIGLEC12,missense_variant,p.Asn140Lys,ENST00000598614,;SIGLEC12,missense_variant,p.Leu152Ile,ENST00000596742,;	830	81	57	SUCCESS
SIGLEC12	89858	.	GRCh37	19	52004872	52004872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	83	0	ENST00000291707.3:c.116G>T	p.Cys39Phe	p.C39F	ENST00000291707	NM_053003.2	39	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS12833.1	116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACACACAGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,PROSITE_profiles:PS50835	.	.	ENSP00000291707	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000291707	Transcript	.	.	ENSG00000254521	15482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.837)	.	deleterious(0.01)	.	SIG12_HUMAN	SIGLEC12	HGNC	.	.	UPI0000135992	SNV	SIGLEC12,missense_variant,p.Cys39Phe,ENST00000291707,;SIGLEC12,upstream_gene_variant,,ENST00000598614,;SIGLEC12,missense_variant,p.Cys39Phe,ENST00000596742,;CTD-3073N11.7,downstream_gene_variant,,ENST00000594712,;	172	83	45	SUCCESS
SIGLEC6	946	.	GRCh37	19	52023460	52023460	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780699727	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	66	0	ENST00000425629.3:c.1238A>T	p.Glu413Val	p.E413V	ENST00000425629	NM_001245.5	413	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS12834.3	1238	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTCAGCA	NONE	.	.	.	.	.	ENSP00000401502	.	8/8	.	.	.	.	.	.	.	.	rs780699727	8/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	tolerated(0.3)	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,stop_lost,p.Ter343CysextTer8,ENST00000391797,;SIGLEC6,stop_lost,p.Ter354CysextTer8,ENST00000343300,;SIGLEC6,missense_variant,p.Glu413Val,ENST00000425629,;SIGLEC6,missense_variant,p.Glu361Val,ENST00000436458,;SIGLEC6,missense_variant,p.Glu397Val,ENST00000346477,;SIGLEC6,3_prime_UTR_variant,,ENST00000359982,;CTD-3073N11.9,non_coding_transcript_exon_variant,,ENST00000598220,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000474054,;	1393	66	48	SUCCESS
FPR1	2357	.	GRCh37	19	52249744	52249744	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	51	0	ENST00000304748.4:c.504T>A	p.Pro168=	p.P168=	ENST00000304748	NM_002029.3	168	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12839.1	504	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCAGGTAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000471493	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000595042	Transcript	.	.	ENSG00000171051	3826	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FPR1_HUMAN	FPR1	HGNC	M0R315_HUMAN,M0QZT0_HUMAN	.	UPI0000050484	SNV	FPR1,synonymous_variant,p.%3D,ENST00000600815,;FPR1,synonymous_variant,p.%3D,ENST00000304748,;FPR1,synonymous_variant,p.%3D,ENST00000595042,;FPR1,downstream_gene_variant,,ENST00000594900,;	646	51	45	SUCCESS
ZNF702P	79986	.	GRCh37	19	53472746	53472746	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	61	0	ENST00000270443.4:n.1748T>A		p.*583*	ENST00000270443				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACACCCGA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000598752,;ZNF702P,downstream_gene_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	1748	61	54	SUCCESS
ZNF702P	79986	.	GRCh37	19	53474050	53474050	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	15	0	ENST00000270443.4:n.444A>C		p.*148*	ENST00000270443				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTTGCCTT	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000599665,;CTD-2620I22.1,non_coding_transcript_exon_variant,,ENST00000600068,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000598752,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000599093,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	444	15	22	SUCCESS
ZNF347	84671	.	GRCh37	19	53644359	53644359	+	synonymous_variant	Silent	SNP	A	A	G	rs980167786	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	63	0	ENST00000334197.7:c.1722T>C	p.Cys574=	p.C574=	ENST00000334197	NM_032584.2	574	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS54314.1	1725	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCACACTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000405218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,synonymous_variant,p.%3D,ENST00000601469,;ZNF347,synonymous_variant,p.%3D,ENST00000334197,;ZNF347,synonymous_variant,p.%3D,ENST00000452676,;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000597183,;ZNF347,downstream_gene_variant,,ENST00000595967,;	2152	63	34	SUCCESS
ZNF677	342926	.	GRCh37	19	53741010	53741010	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1228509560	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	36	93	0	ENST00000333952.4:c.970T>G	p.Cys324Gly	p.C324G	ENST00000333952		324	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS12861.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACATATAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF38,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000334394	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.02)	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,missense_variant,p.Cys324Gly,ENST00000598513,;ZNF677,missense_variant,p.Cys324Gly,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000594517,;ZNF677,downstream_gene_variant,,ENST00000598806,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000593539,;ZNF677,downstream_gene_variant,,ENST00000599328,;	1136	93	68	SUCCESS
BIRC8	112401	.	GRCh37	19	53793261	53793261	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768195717	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	112	0	ENST00000426466.1:c.367T>A	p.Phe123Ile	p.F123I	ENST00000426466	NM_033341.4	123	Ttt/Att	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS12863.1	367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAATCCCA	BUFFER|p.R120Q|c.359G>A|5	.	.	hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	rs768195717	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,missense_variant,p.Phe123Ile,ENST00000426466,;	1615	112	89	SUCCESS
DPRX	503834	.	GRCh37	19	54139945	54139945	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	23	94	0	ENST00000376650.1:c.279T>A	p.Gly93=	p.G93=	ENST00000376650	NM_001012728.1	93	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS33103.1	279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGTGGGGT	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF299	.	.	ENSP00000365838	.	3/3	.	.	.	.	.	.	.	.	COSM1000881	3/3	PASS	ENST00000376650	Transcript	.	.	ENSG00000204595	32166	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DPRX_HUMAN	DPRX	HGNC	.	.	UPI00004ED62B	SNV	DPRX,synonymous_variant,p.%3D,ENST00000376650,;	330	94	59	SUCCESS
MIR517A	574479	.	GRCh37	19	54215574	54215574	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	63	0	ENST00000385001.1:n.53G>T		p.*18*	ENST00000385001				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAGATCGT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385001	Transcript	.	.	ENSG00000207734	32111	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR517A	HGNC	.	.	.	SNV	MIR517A,non_coding_transcript_exon_variant,,ENST00000385001,;MIR521-2,upstream_gene_variant,,ENST00000384818,;MIR524,downstream_gene_variant,,ENST00000385242,;MIR518C,downstream_gene_variant,,ENST00000384822,;MIR520C,downstream_gene_variant,,ENST00000385005,;MIR519D,upstream_gene_variant,,ENST00000385246,;	53	63	51	SUCCESS
PRKCG	5582	.	GRCh37	19	54401219	54401219	+	synonymous_variant	Silent	SNP	C	C	A	rs1568758398	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	21	52	0	ENST00000263431.3:c.946C>A	p.Arg316=	p.R316=	ENST00000263431	NM_002739.3	316	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS12867.1	946	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCGGATG	NONE	.	.	PIRSF_domain:PIRSF000550,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64	.	.	ENSP00000263431	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,stop_gained,p.Cys286Ter,ENST00000536044,;PRKCG,synonymous_variant,p.%3D,ENST00000542049,;PRKCG,synonymous_variant,p.%3D,ENST00000540413,;PRKCG,synonymous_variant,p.%3D,ENST00000263431,;	1228	53	34	SUCCESS
CACNG7	59284	.	GRCh37	19	54444786	54444786	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	28	63	0	ENST00000222212.2:c.487A>C	p.Arg163=	p.R163=	ENST00000222212	NM_031896.4	163	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS12868.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAGGCCC	NONE	.	.	Prints_domain:PR01795,Pfam_domain:PF00822,hmmpanther:PTHR12107:SF3,hmmpanther:PTHR12107	.	.	ENSP00000375647	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000391767	Transcript	.	.	ENSG00000105605	13626	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCG7_HUMAN	CACNG7	HGNC	.	.	UPI00000010F1	SNV	CACNG7,synonymous_variant,p.%3D,ENST00000391766,;CACNG7,synonymous_variant,p.%3D,ENST00000391767,;CACNG7,synonymous_variant,p.%3D,ENST00000222212,;CACNG7,non_coding_transcript_exon_variant,,ENST00000468076,;	699	63	50	SUCCESS
ZNRF4	148066	.	GRCh37	19	5456001	5456001	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	12	0	ENST00000222033.4:c.499A>T	p.Thr167Ser	p.T167S	ENST00000222033	NM_181710.3	167	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS42475.1	499	RADIA|MUTECT|MUSE	.	ACTGCACCTTC	NONE	.	.	hmmpanther:PTHR22765:SF34,hmmpanther:PTHR22765,Gene3D:3.50.30.30,Pfam_domain:PF02225,Superfamily_domains:SSF52025	.	.	ENSP00000222033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000222033	Transcript	.	.	ENSG00000105428	17726	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.057)	.	tolerated(0.24)	.	ZNRF4_HUMAN	ZNRF4	HGNC	.	.	UPI0000366CF5	SNV	ZNRF4,missense_variant,p.Thr167Ser,ENST00000222033,;	576	12	12	SUCCESS
MBOAT7	79143	.	GRCh37	19	54682345	54682345	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	19	0	ENST00000245615.1:c.1031+137T>C		p.*344*	ENST00000245615	NM_024298.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12883.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCAAAACC	NONE	.	.	.	.	.	ENSP00000245615	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000245615	Transcript	.	.	ENSG00000125505	15505	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBOA7_HUMAN	MBOAT7	HGNC	C9J4E9_HUMAN,A9C4B8_HUMAN	.	UPI000013CBAC	SNV	MBOAT7,3_prime_UTR_variant,,ENST00000391754,;MBOAT7,intron_variant,,ENST00000449249,;MBOAT7,intron_variant,,ENST00000431666,;MBOAT7,intron_variant,,ENST00000338624,;MBOAT7,intron_variant,,ENST00000245615,;MBOAT7,downstream_gene_variant,,ENST00000453320,;MBOAT7,downstream_gene_variant,,ENST00000495279,;MBOAT7,downstream_gene_variant,,ENST00000414665,;MBOAT7,intron_variant,,ENST00000494142,;MBOAT7,intron_variant,,ENST00000437868,;MBOAT7,downstream_gene_variant,,ENST00000464098,;	.	19	21	SUCCESS
LILRB5	10990	.	GRCh37	19	54756411	54756411	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	22	1	ENST00000449561.2:c.1476C>T		p.X492_splice	ENST00000449561		492	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS46176.1	1476	SOMATICSNIPER|VARSCANS	.	AAATGGGCTGG	NONE	.	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85	.	.	ENSP00000406478	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000449561	Transcript	.	.	ENSG00000105609	6609	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,synonymous_variant,p.%3D,ENST00000345866,;LILRB5,synonymous_variant,p.%3D,ENST00000449561,;LILRB5,synonymous_variant,p.%3D,ENST00000450632,;LILRB5,synonymous_variant,p.%3D,ENST00000316219,;CTD-2337J16.1,upstream_gene_variant,,ENST00000595133,;LILRB5,splice_region_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;RPS9,downstream_gene_variant,,ENST00000448962,;	1547	23	26	SUCCESS
TTYH1	57348	.	GRCh37	19	54927975	54927975	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	10	0	ENST00000376530.3:c.126+1123A>G		p.*42*	ENST00000376530	NM_001201461.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33106.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GTTACACAACG	NONE	.	.	.	.	.	ENSP00000365714	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376531	Transcript	.	.	ENSG00000167614	13476	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TTYH1_HUMAN	TTYH1	HGNC	.	.	UPI0000141B60	SNV	TTYH1,synonymous_variant,p.%3D,ENST00000391739,;TTYH1,synonymous_variant,p.%3D,ENST00000445095,;TTYH1,intron_variant,,ENST00000376531,;TTYH1,intron_variant,,ENST00000423529,;TTYH1,intron_variant,,ENST00000376530,;TTYH1,intron_variant,,ENST00000301194,;TTYH1,intron_variant,,ENST00000462757,;TTYH1,upstream_gene_variant,,ENST00000462769,;TTYH1,upstream_gene_variant,,ENST00000461302,;TTYH1,upstream_gene_variant,,ENST00000478036,;TTYH1,upstream_gene_variant,,ENST00000476757,;TTYH1,non_coding_transcript_exon_variant,,ENST00000487134,;TTYH1,intron_variant,,ENST00000425969,;TTYH1,upstream_gene_variant,,ENST00000472198,;	.	10	13	SUCCESS
NLRP2	55655	.	GRCh37	19	55497556	55497556	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs753727675	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	90	0	ENST00000448584.2:c.2239C>A	p.Leu747Ile	p.L747I	ENST00000448584	NM_001174083.1	747	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS12913.1	2239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACCTCTGC	NONE	byFrequency	.	hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000445135	.	8/13	.	.	.	.	.	.	.	.	rs753727675,COSM3539309	8/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.344)	.	deleterious(0.03)	0,1	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Leu725Ile,ENST00000339757,;NLRP2,missense_variant,p.Leu747Ile,ENST00000543010,;NLRP2,missense_variant,p.Leu747Ile,ENST00000448584,;NLRP2,missense_variant,p.Leu724Ile,ENST00000427260,;NLRP2,missense_variant,p.Leu725Ile,ENST00000537859,;NLRP2,missense_variant,p.Leu744Ile,ENST00000263437,;NLRP2,missense_variant,p.Leu723Ile,ENST00000391721,;NLRP2,missense_variant,p.Leu723Ile,ENST00000538819,;NLRP2,missense_variant,p.Leu152Ile,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,upstream_gene_variant,,ENST00000586512,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000381637,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;	2382	90	85	SUCCESS
NLRP2	55655	.	GRCh37	19	55505725	55505725	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755680979	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	47	99	0	ENST00000448584.2:c.2797G>T	p.Gly933Trp	p.G933W	ENST00000448584	NM_001174083.1	933	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS12913.1	2797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGGGCTG	NONE	.	.	hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000445135	.	11/13	.	.	.	.	.	.	.	.	rs755680979	11/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Gly911Trp,ENST00000537859,;NLRP2,missense_variant,p.Gly930Trp,ENST00000263437,;NLRP2,missense_variant,p.Gly909Trp,ENST00000391721,;NLRP2,missense_variant,p.Gly911Trp,ENST00000339757,;NLRP2,missense_variant,p.Gly933Trp,ENST00000543010,;NLRP2,missense_variant,p.Gly909Trp,ENST00000538819,;NLRP2,missense_variant,p.Gly933Trp,ENST00000448584,;NLRP2,missense_variant,p.Gly910Trp,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000586512,;NLRP2,3_prime_UTR_variant,,ENST00000543277,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,non_coding_transcript_exon_variant,,ENST00000542755,;NLRP2,downstream_gene_variant,,ENST00000381637,;	2940	99	89	SUCCESS
NLRP2	55655	.	GRCh37	19	55505788	55505788	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	80	0	ENST00000448584.2:c.2860T>C	p.Cys954Arg	p.C954R	ENST00000448584	NM_001174083.1	954	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS12913.1	2860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGTGCAAC	NONE	.	.	hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000445135	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000543010	Transcript	.	.	ENSG00000022556	22948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NALP2_HUMAN	NLRP2	HGNC	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN	.	UPI000004C0CC	SNV	NLRP2,missense_variant,p.Cys932Arg,ENST00000537859,;NLRP2,missense_variant,p.Cys951Arg,ENST00000263437,;NLRP2,missense_variant,p.Cys930Arg,ENST00000391721,;NLRP2,missense_variant,p.Cys932Arg,ENST00000339757,;NLRP2,missense_variant,p.Cys954Arg,ENST00000543010,;NLRP2,missense_variant,p.Cys930Arg,ENST00000538819,;NLRP2,missense_variant,p.Cys954Arg,ENST00000448584,;NLRP2,missense_variant,p.Cys931Arg,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000586512,;NLRP2,3_prime_UTR_variant,,ENST00000543277,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,non_coding_transcript_exon_variant,,ENST00000542755,;NLRP2,downstream_gene_variant,,ENST00000381637,;	3003	80	80	SUCCESS
GP6	51206	.	GRCh37	19	55538983	55538983	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs41301959	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	30	72	0	ENST00000417454.1:c.573G>T	p.Trp191Cys	p.W191C	ENST00000417454	NM_016363.4	191	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS42626.1	573	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACCACAG	NONE	.	.	hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000308782	.	4/8	.	.	.	.	.	.	.	.	rs41301959	4/8	PASS	ENST00000310373	Transcript	1	.	ENSG00000088053	14388	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0.02)	.	GPVI_HUMAN	GP6	HGNC	K7EIW7_HUMAN	.	UPI000013C631	SNV	GP6,missense_variant,p.Trp191Cys,ENST00000417454,;GP6,missense_variant,p.Trp191Cys,ENST00000310373,;GP6,missense_variant,p.Trp114Cys,ENST00000468239,;GP6,missense_variant,p.Trp191Cys,ENST00000333884,;CTC-550B14.7,intron_variant,,ENST00000586845,;CTC-550B14.7,intron_variant,,ENST00000593060,;CTC-550B14.7,upstream_gene_variant,,ENST00000586961,;CTC-550B14.6,non_coding_transcript_exon_variant,,ENST00000585492,;	601	72	52	SUCCESS
RDH13	112724	.	GRCh37	19	55556516	55556516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	107	0	ENST00000415061.3:c.922A>G	p.Arg308Gly	p.R308G	ENST00000415061	NM_001145971.1	308	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS54320.1	922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTCCGGG	NONE	.	.	hmmpanther:PTHR24320:SF38,hmmpanther:PTHR24320	.	.	ENSP00000391121	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000415061	Transcript	.	.	ENSG00000160439	19978	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.164)	.	deleterious(0.03)	.	RDH13_HUMAN	RDH13	HGNC	K7EQB5_HUMAN,K7EMY5_HUMAN,G8JLA1_HUMAN	.	UPI000003F042	SNV	RDH13,missense_variant,p.Arg237Gly,ENST00000396247,;RDH13,missense_variant,p.Arg308Gly,ENST00000415061,;CTC-550B14.7,intron_variant,,ENST00000593060,;CTC-550B14.7,downstream_gene_variant,,ENST00000586961,;CTC-550B14.7,downstream_gene_variant,,ENST00000586845,;CTC-550B14.6,non_coding_transcript_exon_variant,,ENST00000585492,;RDH13,upstream_gene_variant,,ENST00000591868,;RDH13,downstream_gene_variant,,ENST00000589605,;RDH13,upstream_gene_variant,,ENST00000586331,;RDH13,upstream_gene_variant,,ENST00000592423,;RDH13,3_prime_UTR_variant,,ENST00000592573,;RDH13,3_prime_UTR_variant,,ENST00000291892,;RDH13,intron_variant,,ENST00000591960,;RDH13,downstream_gene_variant,,ENST00000587721,;	1066	107	68	SUCCESS
SYT5	6861	.	GRCh37	19	55689571	55689571	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1452046473	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	12	33	0	ENST00000354308.3:c.245T>C	p.Ile82Thr	p.I82T	ENST00000354308	NM_003180.2	82	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS12919.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTATGTAA	NONE	.	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37	.	.	ENSP00000346265	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000354308	Transcript	.	.	ENSG00000129990	11513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.61)	.	SYT5_HUMAN	SYT5	HGNC	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN	.	UPI000013C56F	SNV	SYT5,missense_variant,p.Ile82Thr,ENST00000589172,;SYT5,missense_variant,p.Ile82Thr,ENST00000592470,;SYT5,missense_variant,p.Ile82Thr,ENST00000537500,;SYT5,missense_variant,p.Ile82Thr,ENST00000354308,;SYT5,intron_variant,,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000590859,;PTPRH,downstream_gene_variant,,ENST00000376350,;PTPRH,downstream_gene_variant,,ENST00000263434,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,downstream_gene_variant,,ENST00000591665,;SYT5,intron_variant,,ENST00000585461,;SYT5,upstream_gene_variant,,ENST00000588305,;SYT5,upstream_gene_variant,,ENST00000592956,;	615	33	19	SUCCESS
NLRP8	126205	.	GRCh37	19	56467397	56467397	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	31	87	1	ENST00000291971.3:c.1973T>A	p.Val658Glu	p.V658E	ENST00000291971	NM_176811.2	658	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS12937.1	1973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGTGGAAC	NONE	.	.	Superfamily_domains:SSF52047,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11	.	.	ENSP00000291971	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000291971	Transcript	.	.	ENSG00000179709	22940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.69)	.	deleterious(0)	.	NALP8_HUMAN	NLRP8	HGNC	.	.	UPI00001BB3C9	SNV	NLRP8,missense_variant,p.Val658Glu,ENST00000590542,;NLRP8,missense_variant,p.Val658Glu,ENST00000291971,;	2044	88	33	SUCCESS
ZNF471	57573	.	GRCh37	19	57036782	57036782	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs372005205	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	29	87	0	ENST00000308031.5:c.1346A>C	p.His449Pro	p.H449P	ENST00000308031	NM_020813.2	449	cAt/cCt	0	G:0.0002	.	.	.	.	C	H/P	protein_coding	YES	CCDS12945.1	1346	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCATCAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF212,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	G:0	ENSP00000309161	.	5/5	.	.	.	.	.	.	.	.	rs372005205	5/5	PASS	ENST00000308031	Transcript	.	.	ENSG00000196263	23226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	ZN471_HUMAN	ZNF471	HGNC	K7EPX1_HUMAN	.	UPI0000073465	SNV	ZNF471,missense_variant,p.His449Pro,ENST00000308031,;ZNF471,3_prime_UTR_variant,,ENST00000591537,;ZNF471,intron_variant,,ENST00000593197,;	1479	87	35	SUCCESS
ZNF71	58491	.	GRCh37	19	57132817	57132817	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	36	115	0	ENST00000328070.6:c.162A>T	p.Ala54=	p.A54=	ENST00000328070	NM_021216.4	54	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12947.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCAGAGTG	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,synonymous_variant,p.%3D,ENST00000599599,;ZNF71,synonymous_variant,p.%3D,ENST00000328070,;	396	115	41	SUCCESS
BSG	682	.	GRCh37	19	578005	578005	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	48	0	ENST00000333511.3:c.299A>T	p.Glu100Val	p.E100V	ENST00000333511	NM_001728.3	100	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12033.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGAGGAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF12,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000333769	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000333511	Transcript	1	.	ENSG00000172270	1116	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.34)	.	BASI_HUMAN	BSG	HGNC	R4GN83_HUMAN,R4GMX5_HUMAN	.	UPI0000051E38	SNV	BSG,missense_variant,p.Glu100Val,ENST00000333511,;BSG,intron_variant,,ENST00000353555,;BSG,intron_variant,,ENST00000573784,;BSG,intron_variant,,ENST00000545507,;BSG,intron_variant,,ENST00000576984,;BSG,intron_variant,,ENST00000573216,;BSG,intron_variant,,ENST00000346916,;BSG,non_coding_transcript_exon_variant,,ENST00000574970,;BSG,non_coding_transcript_exon_variant,,ENST00000590218,;BSG,intron_variant,,ENST00000572899,;BSG,intron_variant,,ENST00000576925,;BSG,upstream_gene_variant,,ENST00000571735,;	369	49	43	SUCCESS
ZNF460	10794	.	GRCh37	19	57803168	57803168	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1376532580	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	45	84	0	ENST00000360338.3:c.1259A>G	p.Tyr420Cys	p.Y420C	ENST00000360338	NM_006635.3	420	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12949.1	1259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTATGAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF15,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000353491	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360338	Transcript	.	.	ENSG00000197714	21628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN460_HUMAN	ZNF460	HGNC	M0R0J6_HUMAN,B4DNX9_HUMAN	.	UPI0000202D11	SNV	ZNF460,missense_variant,p.Tyr379Cys,ENST00000537645,;ZNF460,missense_variant,p.Tyr420Cys,ENST00000360338,;ZNF460,downstream_gene_variant,,ENST00000599602,;	1581	84	48	SUCCESS
ZNF549	256051	.	GRCh37	19	58048776	58048776	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	63	146	0	ENST00000376233.3:c.404T>G	p.Val135Gly	p.V135G	ENST00000376233	NM_001199295.1	135	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS56106.1	404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGTGGCCA	BUFFER|p.T133M|c.398C>T|3,BUFFER|p.T120M|c.359C>T|3	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF30	.	.	ENSP00000365407	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376233	Transcript	.	.	ENSG00000121406	26632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	ZN549_HUMAN	ZNF549	HGNC	.	.	UPI0000202D31	SNV	ZNF549,missense_variant,p.Val122Gly,ENST00000240719,;ZNF549,missense_variant,p.Val135Gly,ENST00000376233,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,downstream_gene_variant,,ENST00000457177,;ZNF550,downstream_gene_variant,,ENST00000325134,;ZNF550,downstream_gene_variant,,ENST00000447310,;ZNF550,downstream_gene_variant,,ENST00000376230,;	585	146	86	SUCCESS
ZSCAN18	65982	.	GRCh37	19	58598367	58598367	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	0	15	25	0	ENST00000240727.6:c.651G>C	p.Lys217Asn	p.K217N	ENST00000240727	NM_023926.4	217	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS46214.1	819	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AAGGACTTCAG	NONE	.	.	hmmpanther:PTHR10032:SF6,hmmpanther:PTHR10032	.	.	ENSP00000470123	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000600404	Transcript	.	.	ENSG00000121413	21037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.263)	.	tolerated(0.49)	.	ZSC18_HUMAN	ZSCAN18	HGNC	Q69Z04_HUMAN,M0R1U9_HUMAN	.	UPI00017A6DAF	SNV	ZSCAN18,missense_variant,p.Lys217Asn,ENST00000601144,;ZSCAN18,missense_variant,p.Lys217Asn,ENST00000240727,;ZSCAN18,missense_variant,p.Lys115Asn,ENST00000433686,;ZSCAN18,missense_variant,p.Lys82Asn,ENST00000421612,;ZSCAN18,missense_variant,p.Lys273Asn,ENST00000600404,;ZSCAN18,intron_variant,,ENST00000600522,;ZSCAN18,downstream_gene_variant,,ENST00000595721,;ZSCAN18,downstream_gene_variant,,ENST00000601063,;ZSCAN18,downstream_gene_variant,,ENST00000600897,;ZSCAN18,downstream_gene_variant,,ENST00000600845,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000598497,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000596372,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000595784,;ZSCAN18,downstream_gene_variant,,ENST00000594191,;ZNF135,downstream_gene_variant,,ENST00000515535,;ZSCAN18,downstream_gene_variant,,ENST00000600318,;	849	25	15	SUCCESS
ZSCAN18	65982	.	GRCh37	19	58601546	58601546	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	61	198	1	ENST00000240727.6:c.89A>T	p.Gln30Leu	p.Q30L	ENST00000240727	NM_023926.4	30	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS46214.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCTGGACT	NONE	.	.	hmmpanther:PTHR10032:SF6,hmmpanther:PTHR10032	.	.	ENSP00000470123	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000600404	Transcript	.	.	ENSG00000121413	21037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.436)	.	deleterious(0.01)	.	ZSC18_HUMAN	ZSCAN18	HGNC	Q69Z04_HUMAN,M0R1U9_HUMAN	.	UPI00017A6DAF	SNV	ZSCAN18,missense_variant,p.Gln113Leu,ENST00000595721,;ZSCAN18,missense_variant,p.Gln30Leu,ENST00000601144,;ZSCAN18,missense_variant,p.Gln30Leu,ENST00000240727,;ZSCAN18,missense_variant,p.Gln30Leu,ENST00000600897,;ZSCAN18,missense_variant,p.Gln30Leu,ENST00000600845,;ZSCAN18,missense_variant,p.Gln86Leu,ENST00000600404,;ZSCAN18,intron_variant,,ENST00000421612,;ZSCAN18,upstream_gene_variant,,ENST00000600522,;ZSCAN18,downstream_gene_variant,,ENST00000601063,;ZSCAN18,upstream_gene_variant,,ENST00000433686,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000598497,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000594191,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000600318,;ZNF135,downstream_gene_variant,,ENST00000515535,;ZSCAN18,upstream_gene_variant,,ENST00000596372,;ZSCAN18,upstream_gene_variant,,ENST00000595784,;	287	199	78	SUCCESS
RANBP3	8498	.	GRCh37	19	5918611	5918611	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	44	109	0	ENST00000340578.6:c.1369A>T	p.Thr457Ser	p.T457S	ENST00000340578	NM_007322.2	457	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS42478.1	1369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTGTTGA	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138:SF91,hmmpanther:PTHR23138,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000341483	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000340578	Transcript	.	.	ENSG00000031823	9850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	tolerated(0.14)	.	RANB3_HUMAN	RANBP3	HGNC	K7ESQ0_HUMAN,K7EMH9_HUMAN,K7EIJ4_HUMAN	.	UPI000006F919	SNV	RANBP3,missense_variant,p.Thr384Ser,ENST00000591092,;RANBP3,missense_variant,p.Thr329Ser,ENST00000541471,;RANBP3,missense_variant,p.Thr389Ser,ENST00000034275,;RANBP3,missense_variant,p.Thr452Ser,ENST00000439268,;RANBP3,missense_variant,p.Thr457Ser,ENST00000340578,;RANBP3,missense_variant,p.Thr54Ser,ENST00000587479,;CAPS,downstream_gene_variant,,ENST00000588776,;CAPS,downstream_gene_variant,,ENST00000452990,;CAPS,downstream_gene_variant,,ENST00000588865,;RANBP3,downstream_gene_variant,,ENST00000592621,;CAPS,downstream_gene_variant,,ENST00000222125,;AC104532.4,upstream_gene_variant,,ENST00000591109,;RANBP3,3_prime_UTR_variant,,ENST00000592771,;RANBP3,non_coding_transcript_exon_variant,,ENST00000592197,;RANBP3,non_coding_transcript_exon_variant,,ENST00000586344,;CAPS,downstream_gene_variant,,ENST00000590428,;CAPS,downstream_gene_variant,,ENST00000585541,;RANBP3,downstream_gene_variant,,ENST00000587411,;RANBP3,downstream_gene_variant,,ENST00000587799,;AC104532.2,downstream_gene_variant,,ENST00000588891,;	1427	109	88	SUCCESS
DENND1C	79958	.	GRCh37	19	6478804	6478804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	46	169	0	ENST00000381480.2:c.356C>T	p.Ala119Val	p.A119V	ENST00000381480	NM_024898.2	119	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS45938.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGCTAGG	NONE	.	.	PROSITE_profiles:PS50211,hmmpanther:PTHR13196:SF21,hmmpanther:PTHR13196,Pfam_domain:PF02141,SMART_domains:SM00799	.	.	ENSP00000370889	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000381480	Transcript	.	.	ENSG00000205744	26225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.308)	.	tolerated(0.12)	.	DEN1C_HUMAN	DENND1C	HGNC	K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN	.	UPI000007469C	SNV	DENND1C,missense_variant,p.Ala75Val,ENST00000590173,;DENND1C,missense_variant,p.Ala119Val,ENST00000381480,;DENND1C,missense_variant,p.Ala75Val,ENST00000588421,;DENND1C,missense_variant,p.Ala75Val,ENST00000590473,;DENND1C,missense_variant,p.Ala75Val,ENST00000543576,;DENND1C,non_coding_transcript_exon_variant,,ENST00000591030,;DENND1C,missense_variant,p.Ala75Val,ENST00000590867,;DENND1C,3_prime_UTR_variant,,ENST00000586046,;DENND1C,non_coding_transcript_exon_variant,,ENST00000588988,;DENND1C,non_coding_transcript_exon_variant,,ENST00000592543,;DENND1C,upstream_gene_variant,,ENST00000589491,;DENND1C,upstream_gene_variant,,ENST00000590444,;DENND1C,upstream_gene_variant,,ENST00000590818,;	469	169	108	SUCCESS
C3	718	.	GRCh37	19	6710810	6710810	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	75	0	ENST00000245907.6:c.1526A>G	p.Glu509Gly	p.E509G	ENST00000245907	NM_000064.2	509	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS32883.1	1526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCTCTCGC	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07703	.	.	ENSP00000245907	.	13/41	.	.	.	.	.	.	.	.	.	13/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.22)	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,missense_variant,p.Glu509Gly,ENST00000245907,;C3,downstream_gene_variant,,ENST00000594270,;C3,downstream_gene_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000595577,;	1619	75	91	SUCCESS
INSR	3643	.	GRCh37	19	7117093	7117093	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	132	0	ENST00000302850.5:c.4123A>T	p.Thr1375Ser	p.T1375S	ENST00000302850	NM_000208.2	1375	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS12176.1	4123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTCAGAA	NONE	.	.	PIRSF_domain:PIRSF000620	.	.	ENSP00000303830	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000302850	Transcript	1	.	ENSG00000171105	6091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.69)	.	INSR_HUMAN	INSR	HGNC	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN	.	UPI000020324D	SNV	INSR,missense_variant,p.Thr1375Ser,ENST00000302850,;INSR,missense_variant,p.Thr1363Ser,ENST00000341500,;INSR,downstream_gene_variant,,ENST00000601099,;	4266	132	115	SUCCESS
MISP	126353	.	GRCh37	19	757065	757065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	36	71	1	ENST00000215582.6:c.119C>T	p.Ala40Val	p.A40V	ENST00000215582	NM_173481.2	40	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12042.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGCCAGCG	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	tolerated(0.2)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Ala40Val,ENST00000215582,;	222	72	69	SUCCESS
MISP	126353	.	GRCh37	19	758002	758002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	22	0	ENST00000215582.6:c.1056G>T	p.Gln352His	p.Q352H	ENST00000215582	NM_173481.2	352	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS12042.1	1056	RADIA|MUTECT|MUSE	.	GTGCAGCGGGA	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Gln352His,ENST00000215582,;	1159	22	12	SUCCESS
ZNF358	140467	.	GRCh37	19	7585107	7585107	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	10	0	ENST00000394341.2:c.979G>A	p.Ala327Thr	p.A327T	ENST00000394341		327	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS32890.2	979	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCCTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF1,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000472305	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597229	Transcript	.	.	ENSG00000198816	16838	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	ZN358_HUMAN	ZNF358	HGNC	M0R2S5_HUMAN	.	UPI0000201F0C	SNV	ZNF358,missense_variant,p.Ala327Thr,ENST00000394341,;ZNF358,missense_variant,p.Ala327Thr,ENST00000597229,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;MCOLN1,upstream_gene_variant,,ENST00000264079,;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.11,intron_variant,,ENST00000602083,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;	1149	10	19	SUCCESS
MISP	126353	.	GRCh37	19	758534	758534	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	83	0	ENST00000215582.6:c.1588G>T	p.Val530Leu	p.V530L	ENST00000215582	NM_173481.2	530	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS12042.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGGTGGCT	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	tolerated(0.2)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Val530Leu,ENST00000215582,;	1691	83	74	SUCCESS
MISP	126353	.	GRCh37	19	758601	758601	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	53	142	0	ENST00000215582.6:c.1655A>T	p.Glu552Val	p.E552V	ENST00000215582	NM_173481.2	552	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS12042.1	1655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGAGAGTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,missense_variant,p.Glu552Val,ENST00000215582,;	1758	142	120	SUCCESS
FBN3	84467	.	GRCh37	19	8175948	8175948	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	59	0	ENST00000270509.2:c.4204T>A	p.Cys1402Ser	p.C1402S	ENST00000270509	NM_032447.3	1402	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS12196.1	4204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGGCCC	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01186,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	33/64	.	.	.	.	.	.	.	.	.	33/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,missense_variant,p.Cys1402Ser,ENST00000600128,;FBN3,missense_variant,p.Cys1402Ser,ENST00000601739,;FBN3,missense_variant,p.Cys1402Ser,ENST00000270509,;FBN3,non_coding_transcript_exon_variant,,ENST00000594331,;	4619	59	45	SUCCESS
ELANE	1991	.	GRCh37	19	853327	853327	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1085307717	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	47	122	0	ENST00000263621.1:c.290A>C	p.Gln97Pro	p.Q97P	ENST00000263621	NM_001972.2	97	cAg/cCg	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS12045.1	290	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCAGGTGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257:SF16,hmmpanther:PTHR24257,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000466090	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000590230	Transcript	1	.	ENSG00000197561	3309	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.536)	.	deleterious(0)	.	ELNE_HUMAN	ELANE	HGNC	B2MUD5_HUMAN	.	UPI0000129E6B	SNV	ELANE,missense_variant,p.Gln97Pro,ENST00000263621,;ELANE,missense_variant,p.Gln97Pro,ENST00000590230,;	431	122	110	SUCCESS
MUC16	94025	.	GRCh37	19	9062263	9062263	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	50	0	ENST00000397910.4:c.25183A>G	p.Ile8395Val	p.I8395V	ENST00000397910	NM_024690.2	8395	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54212.1	25183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATGGAAA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ile8395Val,ENST00000397910,;	25387	50	50	SUCCESS
MUC16	94025	.	GRCh37	19	9067175	9067175	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	81	0	ENST00000397910.4:c.20271T>A	p.Thr6757=	p.T6757=	ENST00000397910	NM_024690.2	6757	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS54212.1	20271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTAGTTGG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	20475	81	53	SUCCESS
MUC16	94025	.	GRCh37	19	9067507	9067507	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	41	93	0	ENST00000397910.4:c.19939A>G	p.Ile6647Val	p.I6647V	ENST00000397910	NM_024690.2	6647	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS54212.1	19939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAATCCTTG	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ile6647Val,ENST00000397910,;	20143	93	88	SUCCESS
MUC16	94025	.	GRCh37	19	9069194	9069194	+	synonymous_variant	Silent	SNP	G	G	A	rs771268392	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	54	103	0	ENST00000397910.4:c.18252C>T	p.Ala6084=	p.A6084=	ENST00000397910	NM_024690.2	6084	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS54212.1	18252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGGCGGT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs771268392	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,synonymous_variant,p.%3D,ENST00000397910,;	18456	103	105	SUCCESS
MUC16	94025	.	GRCh37	19	9071260	9071260	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs773638948	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	41	94	0	ENST00000397910.4:c.16186A>T	p.Ser5396Cys	p.S5396C	ENST00000397910	NM_024690.2	5396	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS54212.1	16186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTCAAAT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs773638948	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser5396Cys,ENST00000397910,;	16390	94	93	SUCCESS
MUC16	94025	.	GRCh37	19	9077042	9077042	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs759476925	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	52	0	ENST00000397910.4:c.10404C>A	p.Asp3468Glu	p.D3468E	ENST00000397910	NM_024690.2	3468	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS54212.1	10404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGTCTCC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs759476925	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Asp3468Glu,ENST00000397910,;	10608	52	45	SUCCESS
OR7G1	125962	.	GRCh37	19	9226012	9226012	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	87	0	ENST00000541538.1:c.428T>A	p.Leu143Ter	p.L143*	ENST00000541538	NM_001005192.2	143	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS32898.2	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCAAGCCC	BUFFER|p.W141C|c.423G>T|3	.	.	Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF326,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000444134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000541538	Transcript	.	.	ENSG00000161807	8465	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR7G1_HUMAN	OR7G1	HGNC	.	.	UPI0000041C27	SNV	OR7G1,stop_gained,p.Leu143Ter,ENST00000541538,;OR7G1,stop_gained,p.Leu143Ter,ENST00000293614,;	428	87	87	SUCCESS
VCAM1	7412	.	GRCh37	1	101186271	101186271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	103	0	ENST00000294728.2:c.304A>T	p.Arg102Trp	p.R102W	ENST00000294728	NM_001078.3	102	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS773.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTAGGAAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000294728	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000294728	Transcript	.	.	ENSG00000162692	12663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	deleterious(0.02)	.	VCAM1_HUMAN	VCAM1	HGNC	Q68DC4_HUMAN,G0ZI12_HUMAN,G0ZFQ0_HUMAN,F8UV74_HUMAN,F8UU18_HUMAN,F2YYR6_HUMAN	.	UPI0000000E06	SNV	VCAM1,missense_variant,p.Arg102Trp,ENST00000347652,;VCAM1,missense_variant,p.Arg102Trp,ENST00000370115,;VCAM1,missense_variant,p.Arg102Trp,ENST00000294728,;VCAM1,intron_variant,,ENST00000370119,;	405	103	103	SUCCESS
UBE4B	10277	.	GRCh37	1	10221232	10221232	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	47	113	0	ENST00000343090.6:c.3086T>C	p.Met1029Thr	p.M1029T	ENST00000343090	NM_001105562.2	1029	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS41245.1	3086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATGTTGA	NONE	.	.	hmmpanther:PTHR13931:SF13,hmmpanther:PTHR13931,Pfam_domain:PF10408	.	.	ENSP00000343001	.	23/28	.	.	.	.	.	.	.	.	.	23/28	PASS	ENST00000343090	Transcript	.	.	ENSG00000130939	12500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	UBE4B_HUMAN	UBE4B	HGNC	.	.	UPI0000137944	SNV	UBE4B,missense_variant,p.Met784Thr,ENST00000377157,;UBE4B,missense_variant,p.Met900Thr,ENST00000253251,;UBE4B,missense_variant,p.Met1029Thr,ENST00000343090,;RNU6-828P,upstream_gene_variant,,ENST00000364876,;UBE4B,missense_variant,p.Met55Thr,ENST00000488228,;	3161	113	116	SUCCESS
OLFM3	118427	.	GRCh37	1	102270334	102270334	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	99	0	ENST00000338858.5:c.897T>C	p.Asn299=	p.N299=	ENST00000338858		299	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS30781.1	837	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCATTGTA	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:SSF50969	.	.	ENSP00000359121	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,synonymous_variant,p.%3D,ENST00000338858,;OLFM3,synonymous_variant,p.%3D,ENST00000370103,;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;	1051	99	84	SUCCESS
COL11A1	1301	.	GRCh37	1	103461545	103461545	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	56	171	0	ENST00000370096.3:c.2295G>A		p.X765_splice	ENST00000370096	NM_001854.3	765	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS778.1	2295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACCTTTAC	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	27/67	.	.	.	.	.	.	.	.	COSM674598,COSM674599	27/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;	2608	171	142	SUCCESS
COL11A1	1301	.	GRCh37	1	103484377	103484377	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	234	234	509	1	ENST00000370096.3:c.1347T>A	p.Pro449=	p.P449=	ENST00000370096	NM_001854.3	449	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS778.1	1347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000359114	.	10/67	.	.	.	.	.	.	.	.	.	10/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,synonymous_variant,p.%3D,ENST00000512756,;COL11A1,synonymous_variant,p.%3D,ENST00000353414,;COL11A1,synonymous_variant,p.%3D,ENST00000427239,;COL11A1,synonymous_variant,p.%3D,ENST00000370096,;COL11A1,synonymous_variant,p.%3D,ENST00000358392,;	1660	510	468	SUCCESS
FAM102B	284611	.	GRCh37	1	109171192	109171192	+	synonymous_variant	Silent	SNP	A	A	T	rs1419458220	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	62	125	0	ENST00000370035.3:c.828A>T	p.Ser276=	p.S276=	ENST00000370035	NM_001010883.2	276	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30786.2	828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGAAAA	NONE	.	.	hmmpanther:PTHR21456:SF3,hmmpanther:PTHR21456	.	.	ENSP00000359052	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000370035	Transcript	.	.	ENSG00000162636	27637	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F102B_HUMAN	FAM102B	HGNC	.	.	UPI00001D7585	SNV	FAM102B,synonymous_variant,p.%3D,ENST00000370035,;FAM102B,synonymous_variant,p.%3D,ENST00000405454,;FAM102B,non_coding_transcript_exon_variant,,ENST00000483371,;	1168	125	120	SUCCESS
STXBP3	6814	.	GRCh37	1	109321954	109321954	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	83	0	ENST00000370008.3:c.731C>A	p.Pro244His	p.P244H	ENST00000370008	NM_007269.2	244	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS790.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCCTGTGT	NONE	.	.	Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.40.50.1910,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33	.	.	ENSP00000359025	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000370008	Transcript	.	.	ENSG00000116266	11446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	STXB3_HUMAN	STXBP3	HGNC	.	.	UPI000000DC53	SNV	STXBP3,missense_variant,p.Pro244His,ENST00000370008,;STXBP3,non_coding_transcript_exon_variant,,ENST00000485167,;STXBP3,downstream_gene_variant,,ENST00000486601,;STXBP3,upstream_gene_variant,,ENST00000495245,;	781	83	87	SUCCESS
WDR47	22911	.	GRCh37	1	109553760	109553760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	96	0	ENST00000369962.3:c.908A>G	p.Gln303Arg	p.Q303R	ENST00000369962		303	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS44186.1	929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATTGAGGT	NONE	.	.	hmmpanther:PTHR19863	.	.	ENSP00000383599	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000400794	Transcript	.	.	ENSG00000085433	29141	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	WDR47_HUMAN	WDR47	HGNC	E9PKZ6_HUMAN	.	UPI0001639B05	SNV	WDR47,missense_variant,p.Gln303Arg,ENST00000369965,;WDR47,missense_variant,p.Gln310Arg,ENST00000400794,;WDR47,missense_variant,p.Gln303Arg,ENST00000369962,;WDR47,missense_variant,p.Gln275Arg,ENST00000361054,;WDR47,missense_variant,p.Gln275Arg,ENST00000357672,;WDR47,downstream_gene_variant,,ENST00000530772,;WDR47,downstream_gene_variant,,ENST00000531337,;WDR47,downstream_gene_variant,,ENST00000529074,;WDR47,downstream_gene_variant,,ENST00000528747,;	1063	96	73	SUCCESS
PSRC1	84722	.	GRCh37	1	109824547	109824547	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	38	128	0	ENST00000409138.2:c.213A>C	p.Pro71=	p.P71=	ENST00000409138		71	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS797.1	213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTGGACT	NONE	.	.	hmmpanther:PTHR21584:SF1,hmmpanther:PTHR21584,Pfam_domain:PF15259	.	.	ENSP00000358925	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000369909	Transcript	.	.	ENSG00000134222	24472	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSRC1_HUMAN	PSRC1	HGNC	Q5T2Z1_HUMAN,Q5T2Z0_HUMAN	.	UPI0000073C97	SNV	PSRC1,synonymous_variant,p.%3D,ENST00000369909,;PSRC1,synonymous_variant,p.%3D,ENST00000429031,;PSRC1,synonymous_variant,p.%3D,ENST00000369904,;PSRC1,synonymous_variant,p.%3D,ENST00000409267,;PSRC1,synonymous_variant,p.%3D,ENST00000438534,;PSRC1,synonymous_variant,p.%3D,ENST00000418914,;PSRC1,synonymous_variant,p.%3D,ENST00000369907,;PSRC1,synonymous_variant,p.%3D,ENST00000409138,;PSRC1,synonymous_variant,p.%3D,ENST00000369903,;PSRC1,upstream_gene_variant,,ENST00000474126,;PSRC1,non_coding_transcript_exon_variant,,ENST00000471740,;PSRC1,non_coding_transcript_exon_variant,,ENST00000459765,;PSRC1,non_coding_transcript_exon_variant,,ENST00000492431,;	357	128	102	SUCCESS
KCNA3	3738	.	GRCh37	1	111216504	111216504	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	45	0	ENST00000369769.2:c.928C>A	p.Leu310Met	p.L310M	ENST00000369769	NM_002232.3	310	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS828.2	928	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGTTCGA	BUFFER|p.F308F|c.924C>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF28,hmmpanther:PTHR11537,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169	.	.	ENSP00000358784	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369769	Transcript	.	.	ENSG00000177272	6221	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	KCNA3_HUMAN	KCNA3	HGNC	Q6P2D3_HUMAN,B2RA23_HUMAN	.	UPI000013FB79	SNV	KCNA3,missense_variant,p.Leu310Met,ENST00000369769,;	1152	45	62	SUCCESS
DDX20	11218	.	GRCh37	1	112305597	112305597	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	61	0	ENST00000369702.4:c.1280A>G	p.Gln427Arg	p.Q427R	ENST00000369702	NM_007204.4	427	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS842.1	1280	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAGAAAT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF159,hmmpanther:PTHR24031,Gene3D:3.40.50.300	.	.	ENSP00000358716	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000369702	Transcript	.	.	ENSG00000064703	2743	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.23)	.	tolerated(0.06)	.	DDX20_HUMAN	DDX20	HGNC	.	.	UPI0000129080	SNV	DDX20,missense_variant,p.Gln35Arg,ENST00000475700,;DDX20,missense_variant,p.Gln427Arg,ENST00000369702,;DDX20,3_prime_UTR_variant,,ENST00000536167,;DDX20,3_prime_UTR_variant,,ENST00000533164,;DDX20,non_coding_transcript_exon_variant,,ENST00000534200,;DDX20,downstream_gene_variant,,ENST00000524894,;	1900	61	69	SUCCESS
PTPN22	26191	.	GRCh37	1	114394650	114394650	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	44	0	ENST00000359785.5:c.827A>C	p.Gln276Pro	p.Q276P	ENST00000359785	NM_015967.5	276	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS863.1	827	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTGCGTT	NONE	.	.	PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF260,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF000930,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000352833	.	10/21	.	.	.	.	.	.	.	.	.	10/21	PASS	ENST00000359785	Transcript	.	.	ENSG00000134242	9652	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.091)	.	deleterious(0.03)	.	.	PTPN22	HGNC	F5H2S8_HUMAN	.	UPI000013CF18	SNV	PTPN22,missense_variant,p.Gln276Pro,ENST00000420377,;PTPN22,missense_variant,p.Gln276Pro,ENST00000359785,;PTPN22,missense_variant,p.Gln149Pro,ENST00000525799,;PTPN22,missense_variant,p.Gln32Pro,ENST00000538253,;PTPN22,intron_variant,,ENST00000528414,;PTPN22,intron_variant,,ENST00000460620,;AP4B1-AS1,upstream_gene_variant,,ENST00000419536,;PTPN22,downstream_gene_variant,,ENST00000534519,;PTPN22,splice_region_variant,,ENST00000484147,;PTPN22,splice_region_variant,,ENST00000532224,;	963	44	34	SUCCESS
TNFRSF4	7293	.	GRCh37	1	1146948	1146948	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	78	0	ENST00000379236.3:c.821T>A	p.Leu274Gln	p.L274Q	ENST00000379236	NM_003327.3	274	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS11.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAGGGTG	NONE	.	.	.	.	.	ENSP00000368538	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000379236	Transcript	.	.	ENSG00000186827	11918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	TNR4_HUMAN	TNFRSF4	HGNC	.	.	UPI00001370E5	SNV	TNFRSF4,missense_variant,p.Leu274Gln,ENST00000379236,;TNFRSF18,upstream_gene_variant,,ENST00000379265,;TNFRSF18,upstream_gene_variant,,ENST00000379268,;TNFRSF18,upstream_gene_variant,,ENST00000328596,;TNFRSF4,downstream_gene_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;	826	78	47	SUCCESS
AMPD1	270	.	GRCh37	1	115218238	115218238	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs781026460	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	30	50	0	ENST00000520113.2:c.1691A>T	p.Gln564Leu	p.Q564L	ENST00000520113		564	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS876.2	1691	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCTGGGGC	NONE	.	.	hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,Pfam_domain:PF00962,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	.	.	ENSP00000430075	.	12/16	.	.	.	.	.	.	.	.	rs781026460	12/16	PASS	ENST00000520113	Transcript	.	.	ENSG00000116748	468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.375)	.	deleterious(0.03)	.	AMPD1_HUMAN	AMPD1	HGNC	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN	.	UPI0000470A27	SNV	AMPD1,missense_variant,p.Gln531Leu,ENST00000353928,;AMPD1,missense_variant,p.Gln564Leu,ENST00000520113,;AMPD1,missense_variant,p.Gln560Leu,ENST00000369538,;AMPD1,downstream_gene_variant,,ENST00000485564,;	1707	50	54	SUCCESS
CSDE1	7812	.	GRCh37	1	115275369	115275369	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	95	221	0	ENST00000438362.2:c.1044A>T	p.Lys348Asn	p.K348N	ENST00000438362	NM_001242891.1	348	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS55626.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTTTGTC	NONE	.	.	hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	.	.	ENSP00000407724	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000438362	Transcript	.	.	ENSG00000009307	29905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	deleterious(0)	.	.	CSDE1	HGNC	Q9UG93_HUMAN,G5E9Q2_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN	.	UPI0000D99B0F	SNV	CSDE1,missense_variant,p.Lys317Asn,ENST00000369530,;CSDE1,missense_variant,p.Lys271Asn,ENST00000261443,;CSDE1,missense_variant,p.Lys302Asn,ENST00000358528,;CSDE1,missense_variant,p.Lys271Asn,ENST00000339438,;CSDE1,missense_variant,p.Lys172Asn,ENST00000530886,;CSDE1,missense_variant,p.Lys302Asn,ENST00000534699,;CSDE1,missense_variant,p.Lys348Asn,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000529046,;CSDE1,downstream_gene_variant,,ENST00000525132,;Y_RNA,downstream_gene_variant,,ENST00000365030,;	1423	221	201	SUCCESS
NGF	4803	.	GRCh37	1	115829387	115829387	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	81	0	ENST00000369512.2:c.30A>T	p.Thr10=	p.T10=	ENST00000369512	NM_002506.2	10	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS882.1	30	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTGTGAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11589:SF10,hmmpanther:PTHR11589,PIRSF_domain:PIRSF001789	.	.	ENSP00000358525	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000369512	Transcript	.	.	ENSG00000134259	7808	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NGF_HUMAN	NGF	HGNC	.	.	UPI0000039B11	SNV	NGF,synonymous_variant,p.%3D,ENST00000369512,;RP4-663N10.1,intron_variant,,ENST00000425449,;	199	81	61	SUCCESS
PTCHD2	0	.	GRCh37	1	11589857	11589857	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	30	76	0	ENST00000294484.6:c.2943T>C	p.Arg981=	p.R981=	ENST00000294484	NM_020780.1	981	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS41247.1	2943	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGTCTCTC	NONE	.	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,synonymous_variant,p.%3D,ENST00000389575,;PTCHD2,synonymous_variant,p.%3D,ENST00000294484,;PTCHD2,upstream_gene_variant,,ENST00000304391,;	3081	76	55	SUCCESS
CASQ2	845	.	GRCh37	1	116244009	116244009	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1557783756	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	96	0	ENST00000261448.5:c.1053T>A	p.Asp351Glu	p.D351E	ENST00000261448	NM_001232.3	351	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS884.1	1053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGATCGTC	NONE	.	.	hmmpanther:PTHR10033,hmmpanther:PTHR10033:SF7,Pfam_domain:PF01216,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00312	.	.	ENSP00000261448	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000261448	Transcript	.	.	ENSG00000118729	1513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	tolerated(0.09)	.	CASQ2_HUMAN	CASQ2	HGNC	.	.	UPI0000126F16	SNV	CASQ2,missense_variant,p.Asp280Glu,ENST00000456138,;CASQ2,missense_variant,p.Asp351Glu,ENST00000261448,;VANGL1,downstream_gene_variant,,ENST00000355485,;VANGL1,downstream_gene_variant,,ENST00000369510,;	1293	96	89	SUCCESS
NHLH2	4808	.	GRCh37	1	116380638	116380638	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	42	0	ENST00000320238.3:c.356T>A	p.Leu119Gln	p.L119Q	ENST00000320238	NM_005599.3	119	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS885.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCAGGATC	NONE	.	.	PROSITE_profiles:PS50888,hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF14,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	.	.	ENSP00000358519	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369506	Transcript	.	.	ENSG00000177551	7818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	HEN2_HUMAN	NHLH2	HGNC	A6PVY9_HUMAN	.	UPI000012C5FF	SNV	NHLH2,missense_variant,p.Leu119Gln,ENST00000369506,;NHLH2,missense_variant,p.Leu119Gln,ENST00000320238,;NHLH2,downstream_gene_variant,,ENST00000429731,;	5901	42	43	SUCCESS
TTF2	8458	.	GRCh37	1	117618107	117618107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	75	146	0	ENST00000369466.4:c.901A>T	p.Ile301Leu	p.I301L	ENST00000369466	NM_003594.3	301	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS892.1	901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCATACAG	NONE	.	.	hmmpanther:PTHR10799:SF573,hmmpanther:PTHR10799	.	.	ENSP00000358478	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000369466	Transcript	.	.	ENSG00000116830	12398	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.4)	.	TTF2_HUMAN	TTF2	HGNC	.	.	UPI000013CCE7	SNV	TTF2,missense_variant,p.Ile301Leu,ENST00000369466,;TTF2,non_coding_transcript_exon_variant,,ENST00000469638,;TTF2,downstream_gene_variant,,ENST00000470935,;	945	146	153	SUCCESS
PHGDH	26227	.	GRCh37	1	120284474	120284474	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs370627997	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	52	0	ENST00000369409.4:c.1163T>C	p.Val388Ala	p.V388A	ENST00000369409	NM_006623.3	388	gTg/gCg	0	C:0	.	.	.	.	C	V/A	protein_coding	YES	CCDS904.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGTGAACT	NONE	byCluster	.	TIGRFAM_domain:TIGR01327,Gene3D:3.30.1330.90,Superfamily_domains:SSF143548	.	C:0.0001	ENSP00000358417	.	10/12	.	.	.	.	.	.	.	.	rs370627997	10/12	PASS	ENST00000369409	Transcript	.	.	ENSG00000092621	8923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.17)	.	SERA_HUMAN	PHGDH	HGNC	Q9UMY3_HUMAN,Q9UMY2_HUMAN,Q96RV8_HUMAN,Q96RV7_HUMAN,Q96RV6_HUMAN,Q96RV5_HUMAN,Q8N5M8_HUMAN	.	UPI000013586A	SNV	PHGDH,missense_variant,p.Val354Ala,ENST00000369407,;PHGDH,missense_variant,p.Val388Ala,ENST00000369409,;PHGDH,non_coding_transcript_exon_variant,,ENST00000482968,;	1299	52	40	SUCCESS
MIIP	60672	.	GRCh37	1	12082339	12082339	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	49	123	0	ENST00000235332.4:c.302A>T	p.Gln101Leu	p.Q101L	ENST00000235332	NM_021933.3	101	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS143.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCAGCACC	NONE	.	.	.	.	.	ENSP00000235332	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000235332	Transcript	.	.	ENSG00000116691	25715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	tolerated(0.15)	.	MIIP_HUMAN	MIIP	HGNC	.	.	UPI000013C9CB	SNV	MIIP,missense_variant,p.Gln101Leu,ENST00000235332,;MIIP,missense_variant,p.Gln101Leu,ENST00000436478,;Y_RNA,downstream_gene_variant,,ENST00000365591,;MIIP,non_coding_transcript_exon_variant,,ENST00000478749,;MIIP,non_coding_transcript_exon_variant,,ENST00000466860,;MIIP,upstream_gene_variant,,ENST00000498685,;RP5-1077B9.5,upstream_gene_variant,,ENST00000603287,;	471	123	81	SUCCESS
VPS13D	55187	.	GRCh37	1	12567012	12567012	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	122	0	ENST00000358136.3:c.12900A>G	p.Leu4300=	p.L4300=	ENST00000358136	NM_015378.2	4300	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS30588.1	12900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAGAAGT	NONE	.	.	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	.	.	ENSP00000350854	.	69/70	.	.	.	.	.	.	.	.	.	69/70	PASS	ENST00000358136	Transcript	.	.	ENSG00000048707	23595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	VPS13D	HGNC	M0QXS2_HUMAN,J3KP14_HUMAN	.	UPI0000451CA9	SNV	VPS13D,synonymous_variant,p.%3D,ENST00000358136,;VPS13D,synonymous_variant,p.%3D,ENST00000011700,;VPS13D,synonymous_variant,p.%3D,ENST00000356315,;VPS13D,synonymous_variant,p.%3D,ENST00000543710,;VPS13D,synonymous_variant,p.%3D,ENST00000543766,;VPS13D,5_prime_UTR_variant,,ENST00000471923,;SNORA59A,upstream_gene_variant,,ENST00000459326,;VPS13D,non_coding_transcript_exon_variant,,ENST00000496628,;VPS13D,downstream_gene_variant,,ENST00000473099,;	13030	122	98	SUCCESS
PRAMEF1	65121	.	GRCh37	1	12855839	12855839	+	synonymous_variant	Silent	SNP	G	G	C	rs758439250	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	114	0	ENST00000332296.7:c.1119G>C	p.Leu373=	p.L373=	ENST00000332296	NM_023013.2	373	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS148.1	1119	MUTECT|MUSE|VARSCANS	.	GCCCTGAGCCG	BUFFER|p.S377F|c.1130C>T|3,BUFFER|p.S377F|c.1130C>T|3	.	.	hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000332134	.	4/4	.	.	.	.	.	.	.	.	rs758439250	4/4	PASS	ENST00000332296	Transcript	.	.	ENSG00000116721	28840	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRAM1_HUMAN	PRAMEF1	HGNC	.	.	UPI00000715BF	SNV	PRAMEF1,synonymous_variant,p.%3D,ENST00000400814,;PRAMEF1,synonymous_variant,p.%3D,ENST00000332296,;	1222	114	55	SUCCESS
PRAMEF2	65122	.	GRCh37	1	12921328	12921328	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	15	198	0	ENST00000240189.2:c.1119G>C	p.Leu373=	p.L373=	ENST00000240189	NM_023014.1	373	ctG/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS149.1	1119	RADIA|MUTECT|MUSE	.	GGCCTGAGCTG	BUFFER|p.C375Y|c.1124G>A|3	.	.	hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000240189	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000240189	Transcript	.	.	ENSG00000120952	28841	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRAM2_HUMAN	PRAMEF2	HGNC	.	.	UPI0000139EF9	SNV	PRAMEF2,synonymous_variant,p.%3D,ENST00000240189,;	1206	198	148	SUCCESS
ATAD3A	55210	.	GRCh37	1	1452758	1452758	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	109	0	ENST00000378755.5:c.494A>G	p.Lys165Arg	p.K165R	ENST00000378755	NM_018188.3	165	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS31.1	494	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAAGACCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF4,Pfam_domain:PF12037	.	.	ENSP00000368030	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000378755	Transcript	.	.	ENSG00000197785	25567	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.557)	.	tolerated(0.08)	.	ATD3A_HUMAN	ATAD3A	HGNC	.	.	UPI000013D456	SNV	ATAD3A,missense_variant,p.Lys38Arg,ENST00000536055,;ATAD3A,missense_variant,p.Lys117Arg,ENST00000378756,;ATAD3A,missense_variant,p.Lys103Arg,ENST00000339113,;ATAD3A,missense_variant,p.Lys165Arg,ENST00000378755,;ATAD3A,non_coding_transcript_exon_variant,,ENST00000439513,;ATAD3A,upstream_gene_variant,,ENST00000429957,;	588	110	70	SUCCESS
NUDT17	200035	.	GRCh37	1	145589344	145589344	+	synonymous_variant	Silent	SNP	T	T	C	rs868920421	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	31	84	1	ENST00000334513.5:c.84A>G	p.Gly28=	p.G28=	ENST00000334513	NM_001012758.2	28	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS30830.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCTCCCAG	NONE	.	.	hmmpanther:PTHR22769:SF14,hmmpanther:PTHR22769	.	.	ENSP00000334437	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000334513	Transcript	.	.	ENSG00000186364	26618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUD17_HUMAN	NUDT17	HGNC	.	.	UPI0000418EB1	SNV	NUDT17,synonymous_variant,p.%3D,ENST00000334513,;POLR3C,downstream_gene_variant,,ENST00000334163,;PIAS3,downstream_gene_variant,,ENST00000393045,;PIAS3,downstream_gene_variant,,ENST00000369298,;POLR3C,downstream_gene_variant,,ENST00000369294,;NUDT17,upstream_gene_variant,,ENST00000444015,;NUDT17,non_coding_transcript_exon_variant,,ENST00000460879,;NUDT17,non_coding_transcript_exon_variant,,ENST00000477878,;PIAS3,downstream_gene_variant,,ENST00000475261,;PIAS3,downstream_gene_variant,,ENST00000472114,;NUDT17,upstream_gene_variant,,ENST00000498192,;	96	85	112	SUCCESS
RNF115	27246	.	GRCh37	1	145663367	145663367	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	73	0	ENST00000369291.5:c.428G>C	p.Gly143Ala	p.G143A	ENST00000369291	NM_014455.3	143	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS922.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGGGTGAG	NONE	.	.	hmmpanther:PTHR22763:SF7,hmmpanther:PTHR22763	.	.	ENSP00000358297	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000369291	Transcript	.	.	ENSG00000121848	18154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	RN115_HUMAN	RNF115	HGNC	.	.	UPI00001B061B	SNV	RNF115,missense_variant,p.Gly143Ala,ENST00000369291,;RNF115,splice_region_variant,,ENST00000539368,;RNF115,downstream_gene_variant,,ENST00000542738,;	632	73	119	SUCCESS
CHD1L	9557	.	GRCh37	1	146747893	146747893	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782743019	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	97	71	0	ENST00000369258.4:c.1511A>T	p.Gln504Leu	p.Q504L	ENST00000369258	NM_001256336.1	504	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS927.1	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGAAAC	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF558,PROSITE_profiles:PS51194	.	.	ENSP00000358262	.	14/23	.	.	.	.	.	.	.	.	rs782743019	14/23	PASS	ENST00000369258	Transcript	.	.	ENSG00000131778	1916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.2)	.	CHD1L_HUMAN	CHD1L	HGNC	B5MDZ7_HUMAN	.	UPI000020566F	SNV	CHD1L,missense_variant,p.Gln300Leu,ENST00000369259,;CHD1L,missense_variant,p.Gln504Leu,ENST00000369258,;CHD1L,missense_variant,p.Gln410Leu,ENST00000431239,;CHD1L,missense_variant,p.Gln223Leu,ENST00000361293,;CHD1L,non_coding_transcript_exon_variant,,ENST00000488864,;CHD1L,non_coding_transcript_exon_variant,,ENST00000469625,;CHD1L,non_coding_transcript_exon_variant,,ENST00000467213,;CHD1L,downstream_gene_variant,,ENST00000485113,;	1531	71	121	SUCCESS
GJA8	2703	.	GRCh37	1	147380840	147380840	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	121	86	0	ENST00000369235.1:c.758A>T	p.His253Leu	p.H253L	ENST00000369235		253	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS30834.1	758	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCACTCCA	NONE	.	.	hmmpanther:PTHR11984:SF19,hmmpanther:PTHR11984	.	.	ENSP00000240986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240986	Transcript	.	.	ENSG00000121634	4281	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated(0.46)	.	CXA8_HUMAN	GJA8	HGNC	.	.	UPI0000049BA0	SNV	GJA8,missense_variant,p.His253Leu,ENST00000240986,;GJA8,missense_variant,p.His253Leu,ENST00000369235,;	811	86	165	SUCCESS
HIST2H2AC	0	.	GRCh37	1	149858769	149858769	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	240	108	195	0	ENST00000331380.2:c.245G>C	p.Arg82Pro	p.R82P	ENST00000331380	NM_003517.2	82	cGt/cCt	0	.	.	.	.	.	C	R/P	protein_coding	YES	CCDS937.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGTCACC	NONE	.	.	hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000332194	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331380	Transcript	.	.	ENSG00000184260	4738	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0.03)	.	H2A2C_HUMAN	HIST2H2AC	HGNC	.	.	UPI000007478F	SNV	HIST2H2AC,missense_variant,p.Arg82Pro,ENST00000331380,;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,;HIST2H2BE,upstream_gene_variant,,ENST00000369155,;	245	195	349	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150526448	150526448	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	41	0	ENST00000271643.4:c.981C>A	p.Arg327=	p.R327=	ENST00000271643	NM_019032.4	327	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS955.1	981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGCCTGGA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144	.	.	ENSP00000271643	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,synonymous_variant,p.%3D,ENST00000271643,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369038,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369039,;ADAMTSL4,synonymous_variant,p.%3D,ENST00000369041,;AL356356.1,downstream_gene_variant,,ENST00000538795,;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;	1217	41	93	SUCCESS
BNIPL	149428	.	GRCh37	1	151018276	151018276	+	synonymous_variant	Silent	SNP	A	A	G	rs370988337	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	52	65	0	ENST00000368931.3:c.855A>G	p.Leu285=	p.L285=	ENST00000368931	NM_138278.3	285	ctA/ctG	0	G:0	.	.	.	.	G	L	protein_coding	YES	CCDS978.2	855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTACGGAA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52087,SMART_domains:SM00516,Gene3D:3.40.525.10,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF13,Pfam_domain:PF13716,PROSITE_profiles:PS50191	.	G:0.0001	ENSP00000357927	.	8/10	.	.	.	.	.	.	.	.	rs370988337	8/10	PASS	ENST00000368931	Transcript	.	.	ENSG00000163141	16976	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BNIPL_HUMAN	BNIPL	HGNC	F8W685_HUMAN	.	UPI00001B94EF	SNV	BNIPL,synonymous_variant,p.%3D,ENST00000368931,;BNIPL,synonymous_variant,p.%3D,ENST00000295294,;BNIPL,synonymous_variant,p.%3D,ENST00000361277,;BNIPL,downstream_gene_variant,,ENST00000392802,;C1orf56,upstream_gene_variant,,ENST00000368926,;BNIPL,non_coding_transcript_exon_variant,,ENST00000491386,;C1orf56,upstream_gene_variant,,ENST00000465135,;C1orf56,upstream_gene_variant,,ENST00000473308,;BNIPL,3_prime_UTR_variant,,ENST00000485855,;	1011	65	143	SUCCESS
POGZ	23126	.	GRCh37	1	151403269	151403269	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	55	0	ENST00000271715.2:c.332A>G	p.Gln111Arg	p.Q111R	ENST00000271715	NM_015100.3	111	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS997.1	332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTGGGTC	NONE	.	.	.	.	.	ENSP00000271715	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000271715	Transcript	.	.	ENSG00000143442	18801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	tolerated(0.09)	.	POGZ_HUMAN	POGZ	HGNC	F5H8H4_HUMAN,E9PJY9_HUMAN,E9PIR8_HUMAN	.	UPI000035895F	SNV	POGZ,missense_variant,p.Gln111Arg,ENST00000271715,;POGZ,missense_variant,p.Gln111Arg,ENST00000533461,;POGZ,missense_variant,p.Gln111Arg,ENST00000533351,;POGZ,missense_variant,p.Gln58Arg,ENST00000392723,;POGZ,missense_variant,p.Gln111Arg,ENST00000409503,;POGZ,missense_variant,p.Gln58Arg,ENST00000361398,;POGZ,missense_variant,p.Gln58Arg,ENST00000531094,;POGZ,missense_variant,p.Gln58Arg,ENST00000491586,;POGZ,missense_variant,p.Gln58Arg,ENST00000450842,;POGZ,5_prime_UTR_variant,,ENST00000540984,;POGZ,intron_variant,,ENST00000368863,;POGZ,upstream_gene_variant,,ENST00000594456,;POGZ,non_coding_transcript_exon_variant,,ENST00000485040,;POGZ,non_coding_transcript_exon_variant,,ENST00000467287,;POGZ,non_coding_transcript_exon_variant,,ENST00000358476,;POGZ,upstream_gene_variant,,ENST00000441516,;	647	55	117	SUCCESS
TCHH	7062	.	GRCh37	1	152084202	152084202	+	synonymous_variant	Silent	SNP	G	G	T	rs756917336	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	20	0	ENST00000368804.1:c.1491C>A	p.Arg497=	p.R497=	ENST00000368804	NM_007113.3	497	cgC/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS41396.1	1491	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGCGCCT	BUFFER|p.E494Q|c.1480G>C|10	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	rs756917336	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,synonymous_variant,p.%3D,ENST00000368804,;	1491	20	43	SUCCESS
FLG	2312	.	GRCh37	1	152279164	152279164	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs777165664	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	376	37	244	0	ENST00000368799.1:c.8198G>T	p.Gly2733Val	p.G2733V	ENST00000368799	NM_002016.1	2733	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS30860.1	8198	RADIA|MUSE|VARSCANS	.	AATGTCCAGAC	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	rs777165664	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.259)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Gly2733Val,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8234	244	414	SUCCESS
FLG	2312	.	GRCh37	1	152286887	152286887	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	78	54	0	ENST00000368799.1:c.475A>G	p.Lys159Glu	p.K159E	ENST00000368799	NM_002016.1	159	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS30860.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTTTTTT	NONE	.	.	hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	COSM3474087	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.159)	.	.	1	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.Lys159Glu,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	511	54	107	SUCCESS
LCE2D	353141	.	GRCh37	1	152636872	152636872	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	71	0	ENST00000368784.1:c.291T>C	p.Ser97=	p.S97=	ENST00000368784	NM_178430.3	97	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1018.1	291	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Pfam_domain:PF14672	.	.	ENSP00000357773	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368784	Transcript	.	.	ENSG00000187223	16518	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCE2D_HUMAN	LCE2D	HGNC	.	.	UPI00001927D4	SNV	LCE2D,synonymous_variant,p.%3D,ENST00000368784,;	346	71	126	SUCCESS
SPRR4	163778	.	GRCh37	1	152944426	152944426	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	207	138	0	ENST00000328051.2:c.60G>T	p.Gln20His	p.Q20H	ENST00000328051	NM_173080.1	20	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS1031.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAGCAGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF19,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000332163	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328051	Transcript	.	.	ENSG00000184148	23173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	SPRR4_HUMAN	SPRR4	HGNC	.	.	UPI000006D059	SNV	SPRR4,missense_variant,p.Gln20His,ENST00000328051,;	109	138	263	SUCCESS
SPRR1A	6698	.	GRCh37	1	152957864	152957864	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	149	101	0	ENST00000368762.1:c.158T>C	p.Val53Ala	p.V53A	ENST00000368762		53	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS1032.1	158	RADIA|MUTECT|MUSE	.	CAAAGTGCCTG	NONE	.	.	hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF49,Pfam_domain:PF02389,Pfam_domain:PF02389,Prints_domain:PR00021	.	.	ENSP00000307340	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307122	Transcript	.	.	ENSG00000169474	11259	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.587)	.	tolerated(0.28)	.	SPR1A_HUMAN	SPRR1A	HGNC	.	.	UPI000013EBCC	SNV	SPRR1A,missense_variant,p.Val53Ala,ENST00000307122,;SPRR1A,missense_variant,p.Val53Ala,ENST00000368762,;	222	101	196	SUCCESS
SPRR2F	6705	.	GRCh37	1	153085091	153085091	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	8	48	0	ENST00000468739.1:c.119A>G	p.Lys40Arg	p.K40R	ENST00000468739	NM_001014450.1	40	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS30867.1	119	RADIA|MUTECT|MUSE|VARSCANS	.	GACACTTTGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF16,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR00021	.	.	ENSP00000418193	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000468739	Transcript	.	.	ENSG00000244094	11266	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	SPR2F_HUMAN	SPRR2F	HGNC	.	.	UPI000006D423	SNV	SPRR2F,missense_variant,p.Lys40Arg,ENST00000468739,;SPRR2B,intron_variant,,ENST00000368752,;	180	48	75	SUCCESS
NPR1	4881	.	GRCh37	1	153661567	153661567	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	114	82	0	ENST00000368680.3:c.2556C>T	p.Ile852=	p.I852=	ENST00000368680	NM_000906.3	852	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1051.1	2556	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCCTGCC	NONE	.	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF232,SMART_domains:SM00044	.	.	ENSP00000357669	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000368680	Transcript	.	.	ENSG00000169418	7943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRA_HUMAN	NPR1	HGNC	.	.	UPI0000125B3D	SNV	NPR1,synonymous_variant,p.%3D,ENST00000368680,;NPR1,non_coding_transcript_exon_variant,,ENST00000368677,;	3028	82	155	SUCCESS
UBAP2L	9898	.	GRCh37	1	154223688	154223688	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774812504	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	14	130	1	ENST00000361546.2:c.1385C>T	p.Ser462Leu	p.S462L	ENST00000361546		462	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS1063.1	1385	MUTECT|MUSE	.	CACATCGGCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16308:SF18,hmmpanther:PTHR16308	.	.	ENSP00000389445	.	13/27	.	.	.	.	.	.	.	.	rs774812504	13/27	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.194)	.	tolerated(0.23)	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,missense_variant,p.Ser462Leu,ENST00000361546,;UBAP2L,missense_variant,p.Ser473Leu,ENST00000271877,;UBAP2L,missense_variant,p.Ser462Leu,ENST00000343815,;UBAP2L,missense_variant,p.Ser462Leu,ENST00000428931,;UBAP2L,upstream_gene_variant,,ENST00000433615,;UBAP2L,downstream_gene_variant,,ENST00000368504,;AL590431.1,upstream_gene_variant,,ENST00000517008,;UBAP2L,downstream_gene_variant,,ENST00000466173,;UBAP2L,upstream_gene_variant,,ENST00000495676,;UBAP2L,upstream_gene_variant,,ENST00000489076,;	1552	131	245	SUCCESS
AQP10	89872	.	GRCh37	1	154294415	154294415	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	36	106	0	ENST00000324978.3:c.112A>T	p.Thr38Ser	p.T38S	ENST00000324978	NM_080429.2	38	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS1065.1	112	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCACCCAA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR00783	.	.	ENSP00000318355	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000324978	Transcript	.	.	ENSG00000143595	16029	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.697)	.	tolerated(0.08)	.	AQP10_HUMAN	AQP10	HGNC	.	.	UPI000007028A	SNV	AQP10,missense_variant,p.Thr38Ser,ENST00000324978,;AQP10,missense_variant,p.Thr38Ser,ENST00000484864,;ATP8B2,upstream_gene_variant,,ENST00000368487,;AQP10,intron_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	152	106	219	SUCCESS
ADAR	103	.	GRCh37	1	154573591	154573591	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	59	76	0	ENST00000368474.4:c.1527A>G	p.Leu509=	p.L509=	ENST00000368474	NM_001111.4	509	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS1071.1	1527	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCTAACAG	NONE	.	.	PROSITE_profiles:PS50137,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	.	.	ENSP00000357459	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000368474	Transcript	.	.	ENSG00000160710	225	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DSRAD_HUMAN	ADAR	HGNC	.	.	UPI000045626B	SNV	ADAR,synonymous_variant,p.%3D,ENST00000292205,;ADAR,synonymous_variant,p.%3D,ENST00000529168,;ADAR,synonymous_variant,p.%3D,ENST00000368474,;ADAR,synonymous_variant,p.%3D,ENST00000368471,;ADAR,downstream_gene_variant,,ENST00000471068,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,downstream_gene_variant,,ENST00000494866,;ADAR,non_coding_transcript_exon_variant,,ENST00000463920,;	1727	76	185	SUCCESS
GBAP1	2630	.	GRCh37	1	155185393	155185393	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	63	104	0	ENST00000473223.1:n.1560C>G		p.*520*	ENST00000473223				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGGAGCC	NONE	.	1779	.	.	.	ENSP00000357360	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368376	Transcript	.	.	ENSG00000173171	7504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTX1_HUMAN	MTX1	HGNC	.	.	UPI0000225CC9	SNV	MTX1,downstream_gene_variant,,ENST00000368376,;MTX1,downstream_gene_variant,,ENST00000609421,;MTX1,downstream_gene_variant,,ENST00000316721,;RP11-263K19.6,upstream_gene_variant,,ENST00000455788,;GBAP1,non_coding_transcript_exon_variant,,ENST00000368374,;GBAP1,non_coding_transcript_exon_variant,,ENST00000486869,;MTX1,downstream_gene_variant,,ENST00000495589,;GBAP1,downstream_gene_variant,,ENST00000462587,;GBAP1,non_coding_transcript_exon_variant,,ENST00000486197,;GBAP1,non_coding_transcript_exon_variant,,ENST00000473223,;GBAP1,non_coding_transcript_exon_variant,,ENST00000459805,;MTX1,downstream_gene_variant,,ENST00000481771,;MTX1,downstream_gene_variant,,ENST00000424959,;GBAP1,downstream_gene_variant,,ENST00000463838,;MTX1,downstream_gene_variant,,ENST00000495492,;GBAP1,non_coding_transcript_exon_variant,,ENST00000313929,;GBAP1,non_coding_transcript_exon_variant,,ENST00000566701,;	.	104	176	SUCCESS
CLK2	1196	.	GRCh37	1	155234093	155234093	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	224	166	1	ENST00000368361.4:c.1147-2A>T		p.X383_splice	ENST00000368361		383		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1107.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCTGGGAA	NONE	.	.	.	.	.	ENSP00000354856	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361168	Transcript	.	.	ENSG00000176444	2069	.	.	HIGH	10/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLK2_HUMAN	CLK2	HGNC	Q9BRG8_HUMAN,B7Z8N6_HUMAN	.	UPI0000169F47	SNV	CLK2,splice_acceptor_variant,,ENST00000361168,;CLK2,splice_acceptor_variant,,ENST00000536801,;CLK2,splice_acceptor_variant,,ENST00000355560,;CLK2,splice_acceptor_variant,,ENST00000368361,;SCAMP3,upstream_gene_variant,,ENST00000302631,;SCAMP3,upstream_gene_variant,,ENST00000355379,;CLK2,splice_acceptor_variant,,ENST00000476983,;CLK2,non_coding_transcript_exon_variant,,ENST00000497188,;SCAMP3,upstream_gene_variant,,ENST00000472397,;CLK2,downstream_gene_variant,,ENST00000484699,;SCAMP3,upstream_gene_variant,,ENST00000480219,;SCAMP3,upstream_gene_variant,,ENST00000465312,;CLK2,downstream_gene_variant,,ENST00000471047,;SCAMP3,upstream_gene_variant,,ENST00000490999,;SCAMP3,upstream_gene_variant,,ENST00000462151,;SCAMP3,upstream_gene_variant,,ENST00000497470,;	.	167	323	SUCCESS
ASH1L	55870	.	GRCh37	1	155451023	155451023	+	synonymous_variant	Silent	SNP	T	T	C	rs1457417836	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	24	51	0	ENST00000368346.3:c.1638A>G	p.Pro546=	p.P546=	ENST00000368346		546	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS1113.2	1638	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAATGGGGA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF311	.	.	ENSP00000376204	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000392403	Transcript	.	.	ENSG00000116539	19088	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASH1L_HUMAN	ASH1L	HGNC	.	.	UPI0000DACAC8	SNV	ASH1L,synonymous_variant,p.%3D,ENST00000368346,;ASH1L,synonymous_variant,p.%3D,ENST00000392403,;ASH1L,downstream_gene_variant,,ENST00000548830,;	2117	51	127	SUCCESS
SYT11	23208	.	GRCh37	1	155838371	155838371	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1228239731	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	69	131	0	ENST00000368324.4:c.650A>G	p.Lys217Arg	p.K217R	ENST00000368324	NM_152280.4	217	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS1122.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGAAGACCC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF115,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000357307	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000368324	Transcript	.	.	ENSG00000132718	19239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated(0.06)	.	SYT11_HUMAN	SYT11	HGNC	B4DK40_HUMAN	.	UPI00002049CC	SNV	SYT11,missense_variant,p.Lys217Arg,ENST00000368324,;SYT11,intron_variant,,ENST00000539162,;	903	131	205	SUCCESS
BCAN	63827	.	GRCh37	1	156622305	156622305	+	synonymous_variant	Silent	SNP	A	A	T	rs747261515	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	25	80	0	ENST00000329117.5:c.1563A>T	p.Pro521=	p.P521=	ENST00000329117	NM_021948.4	521	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1149.1	1563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCACTTCC	NONE	byFrequency	.	hmmpanther:PTHR22804	.	.	ENSP00000331210	.	8/14	.	.	.	.	.	.	.	.	rs747261515	8/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,synonymous_variant,p.%3D,ENST00000361588,;BCAN,synonymous_variant,p.%3D,ENST00000329117,;BCAN,downstream_gene_variant,,ENST00000457777,;BCAN,downstream_gene_variant,,ENST00000424639,;RP11-284F21.7,intron_variant,,ENST00000448869,;BCAN,3_prime_UTR_variant,,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000496038,;BCAN,downstream_gene_variant,,ENST00000491823,;	1899	80	124	SUCCESS
FCRL5	83416	.	GRCh37	1	157488541	157488541	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	30	86	0	ENST00000361835.3:c.2692A>T	p.Thr898Ser	p.T898S	ENST00000361835	NM_001195388.1	898	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS1165.1	2692	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGTGGGCT	NONE	.	.	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49	.	.	ENSP00000354691	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.193)	.	deleterious(0.01)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Thr898Ser,ENST00000361835,;FCRL5,missense_variant,p.Thr898Ser,ENST00000356953,;FCRL5,non_coding_transcript_exon_variant,,ENST00000483875,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000462218,;	2850	86	161	SUCCESS
FCRL5	83416	.	GRCh37	1	157514159	157514159	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	180	133	0	ENST00000361835.3:c.737A>T	p.Gln246Leu	p.Q246L	ENST00000361835	NM_001195388.1	246	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1165.1	737	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCTGGAAA	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,PROSITE_profiles:PS50835	.	.	ENSP00000354691	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.141)	.	tolerated(0.22)	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,missense_variant,p.Gln246Leu,ENST00000361835,;FCRL5,missense_variant,p.Gln246Leu,ENST00000368190,;FCRL5,missense_variant,p.Gln246Leu,ENST00000368189,;FCRL5,missense_variant,p.Gln246Leu,ENST00000356953,;FCRL5,missense_variant,p.Gln161Leu,ENST00000368191,;FCRL5,downstream_gene_variant,,ENST00000368188,;FCRL5,non_coding_transcript_exon_variant,,ENST00000481082,;	895	133	249	SUCCESS
CD5L	922	.	GRCh37	1	157803106	157803106	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	152	137	0	ENST00000368174.4:c.915T>G	p.Val305=	p.V305=	ENST00000368174	NM_005894.2	305	gtT/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS1171.1	915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCAACCCC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,synonymous_variant,p.%3D,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	1012	137	224	SUCCESS
CD5L	922	.	GRCh37	1	157803162	157803162	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	141	134	0	ENST00000368174.4:c.859T>A	p.Cys287Ser	p.C287S	ENST00000368174	NM_005894.2	287	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS1171.1	859	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGCCCA	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,missense_variant,p.Cys287Ser,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	956	134	206	SUCCESS
CD1A	909	.	GRCh37	1	158224355	158224355	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	40	0	ENST00000289429.5:c.-105G>T		p.*35*	ENST00000289429	NM_001763.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1174.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTGGCTGC	NONE	.	.	.	.	.	ENSP00000289429	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000289429	Transcript	.	.	ENSG00000158477	1634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD1A_HUMAN	CD1A	HGNC	.	.	UPI0000161A54	SNV	CD1A,5_prime_UTR_variant,,ENST00000289429,;	429	40	94	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576643	158576643	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	34	98	0	ENST00000361284.1:c.415A>T	p.Thr139Ser	p.T139S	ENST00000361284	NM_001004478.1	139	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS30901.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTACCCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.21)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Thr139Ser,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	415	98	156	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576656	158576656	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	132	99	0	ENST00000361284.1:c.428A>T	p.Gln143Leu	p.Q143L	ENST00000361284	NM_001004478.1	143	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS30901.1	428	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAGCTGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.433)	.	tolerated(0.19)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Gln143Leu,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	428	99	168	SUCCESS
SPTA1	6708	.	GRCh37	1	158627334	158627334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	38	78	0	ENST00000368147.4:c.2738C>T	p.Thr913Ile	p.T913I	ENST00000368147	NM_003126.2	913	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS41423.1	2738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGTTTCT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	19/52	.	.	.	.	.	.	.	.	.	19/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	deleterious(0.01)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Thr913Ile,ENST00000368147,;	2919	78	151	SUCCESS
OR6K2	81448	.	GRCh37	1	158669603	158669603	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	291	86	210	0	ENST00000359610.2:c.840A>G	p.Ala280=	p.A280=	ENST00000359610	NM_001005279.1	280	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS30902.1	840	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTGCAAA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,synonymous_variant,p.%3D,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	884	210	377	SUCCESS
OR6K2	81448	.	GRCh37	1	158669632	158669632	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	152	203	0	ENST00000359610.2:c.811T>A	p.Trp271Arg	p.W271R	ENST00000359610	NM_001005279.1	271	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS30902.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCAGAACA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000352626	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359610	Transcript	.	.	ENSG00000196171	15029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	tolerated(0.05)	.	OR6K2_HUMAN	OR6K2	HGNC	.	.	UPI000004B208	SNV	OR6K2,missense_variant,p.Trp271Arg,ENST00000359610,;OR6K1P,upstream_gene_variant,,ENST00000456766,;	855	203	386	SUCCESS
PYHIN1	149628	.	GRCh37	1	158906729	158906729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	75	153	2	ENST00000368140.1:c.29T>C	p.Leu10Pro	p.L10P	ENST00000368140	NM_152501.4	10	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS1178.1	29	RADIA|VARSCANS	.	TGTTCTACTGA	NONE	.	.	PROSITE_profiles:PS50824,hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200,Pfam_domain:PF02758	.	.	ENSP00000357122	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,missense_variant,p.Leu10Pro,ENST00000368135,;PYHIN1,missense_variant,p.Leu10Pro,ENST00000392254,;PYHIN1,missense_variant,p.Leu10Pro,ENST00000368140,;PYHIN1,missense_variant,p.Leu10Pro,ENST00000458222,;PYHIN1,missense_variant,p.Leu10Pro,ENST00000392252,;PYHIN1,missense_variant,p.Leu10Pro,ENST00000368138,;	274	156	345	SUCCESS
AIM2	9447	.	GRCh37	1	159038418	159038418	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	102	76	0	ENST00000368130.4:c.336A>T	p.Ala112=	p.A112=	ENST00000368130	NM_004833.1	112	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1181.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCTGCAGA	NONE	.	.	hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF17	.	.	ENSP00000357112	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000368130	Transcript	.	.	ENSG00000163568	357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AIM2_HUMAN	AIM2	HGNC	Q5T3W0_HUMAN,Q5T3V8_HUMAN	.	UPI000012573B	SNV	AIM2,synonymous_variant,p.%3D,ENST00000368130,;AIM2,intron_variant,,ENST00000368129,;AIM2,non_coding_transcript_exon_variant,,ENST00000411768,;AIM2,non_coding_transcript_exon_variant,,ENST00000481829,;	625	76	151	SUCCESS
VSIG8	391123	.	GRCh37	1	159832326	159832326	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	105	73	0	ENST00000368100.1:c.-15A>C		p.*5*	ENST00000368100	NM_001013661.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30913.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGTGTTTC	NONE	.	.	.	.	.	ENSP00000357080	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000368100	Transcript	.	.	ENSG00000243284	32063	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VSIG8_HUMAN	VSIG8	HGNC	.	.	UPI0000458A8F	SNV	VSIG8,5_prime_UTR_variant,,ENST00000368100,;RP11-190A12.8,upstream_gene_variant,,ENST00000608430,;RP11-190A12.7,intron_variant,,ENST00000536764,;RP11-190A12.7,intron_variant,,ENST00000543372,;RP11-190A12.7,intron_variant,,ENST00000537167,;RP11-190A12.7,intron_variant,,ENST00000536779,;RP11-190A12.7,intron_variant,,ENST00000544342,;	122	73	135	SUCCESS
ATP1A2	477	.	GRCh37	1	160097597	160097597	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	72	53	0	ENST00000361216.3:c.1004T>A	p.Leu335Gln	p.L335Q	ENST00000361216	NM_000702.3	335	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS1196.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTGGCCA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF229,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00122,Superfamily_domains:0049473	.	.	ENSP00000354490	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000361216	Transcript	.	.	ENSG00000018625	800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	AT1A2_HUMAN	ATP1A2	HGNC	Q58I22_HUMAN	.	UPI0000124FC1	SNV	ATP1A2,missense_variant,p.Leu335Gln,ENST00000361216,;ATP1A2,missense_variant,p.Leu335Gln,ENST00000392233,;ATP1A2,missense_variant,p.Leu46Gln,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;	1093	53	100	SUCCESS
ATP1A4	480	.	GRCh37	1	160144010	160144010	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	220	187	0	ENST00000368081.4:c.2101C>A	p.Pro701Thr	p.P701T	ENST00000368081	NM_144699.3	701	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS1197.1	2101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCTCAG	NONE	.	.	hmmpanther:PTHR24093:SF233,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784	.	.	ENSP00000357060	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000368081	Transcript	.	.	ENSG00000132681	14073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0)	.	AT1A4_HUMAN	ATP1A4	HGNC	Q13818_HUMAN	.	UPI0000124FC5	SNV	ATP1A4,missense_variant,p.Pro701Thr,ENST00000368081,;ATP1A4,upstream_gene_variant,,ENST00000470705,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000418334,;ATP1A4,upstream_gene_variant,,ENST00000466526,;ATP1A4,3_prime_UTR_variant,,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	2572	187	306	SUCCESS
SLAMF1	6504	.	GRCh37	1	160582368	160582368	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	64	40	0	ENST00000302035.6:c.867T>C		p.X289_splice	ENST00000302035	NM_003037.2	289	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1207.1	867	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGGCTA	NONE	.	.	hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49	.	.	ENSP00000306190	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,missense_variant,p.Ser265Pro,ENST00000538290,;SLAMF1,synonymous_variant,p.%3D,ENST00000235739,;SLAMF1,synonymous_variant,p.%3D,ENST00000302035,;SLAMF1,downstream_gene_variant,,ENST00000355199,;	1217	40	94	SUCCESS
LY9	4063	.	GRCh37	1	160783584	160783584	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	130	186	0	ENST00000263285.6:c.613T>C	p.Ser205Pro	p.S205P	ENST00000263285		205	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS30916.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTCCATT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12080:SF14,hmmpanther:PTHR12080,Gene3D:2.60.40.10,Pfam_domain:PF13927,Superfamily_domains:SSF48726	.	.	ENSP00000263285	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000263285	Transcript	.	.	ENSG00000122224	6730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.306)	.	tolerated(0.19)	.	LY9_HUMAN	LY9	HGNC	.	.	UPI00001416AF	SNV	LY9,missense_variant,p.Ser165Pro,ENST00000368041,;LY9,missense_variant,p.Ser205Pro,ENST00000341032,;LY9,missense_variant,p.Ser205Pro,ENST00000392203,;LY9,missense_variant,p.Ser205Pro,ENST00000368037,;LY9,missense_variant,p.Ser205Pro,ENST00000263285,;LY9,5_prime_UTR_variant,,ENST00000368040,;LY9,upstream_gene_variant,,ENST00000368035,;LY9,non_coding_transcript_exon_variant,,ENST00000471816,;LY9,non_coding_transcript_exon_variant,,ENST00000480837,;LY9,non_coding_transcript_exon_variant,,ENST00000479663,;	643	186	378	SUCCESS
LY9	4063	.	GRCh37	1	160784286	160784286	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	123	112	0	ENST00000263285.6:c.807T>G	p.Leu269=	p.L269=	ENST00000263285		269	ctT/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS30916.1	807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTGCACT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12080:SF14,hmmpanther:PTHR12080,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000263285	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000263285	Transcript	.	.	ENSG00000122224	6730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LY9_HUMAN	LY9	HGNC	.	.	UPI00001416AF	SNV	LY9,synonymous_variant,p.%3D,ENST00000368041,;LY9,synonymous_variant,p.%3D,ENST00000341032,;LY9,synonymous_variant,p.%3D,ENST00000392203,;LY9,synonymous_variant,p.%3D,ENST00000368037,;LY9,synonymous_variant,p.%3D,ENST00000263285,;LY9,5_prime_UTR_variant,,ENST00000368040,;LY9,upstream_gene_variant,,ENST00000368035,;LY9,non_coding_transcript_exon_variant,,ENST00000471816,;LY9,downstream_gene_variant,,ENST00000480837,;LY9,non_coding_transcript_exon_variant,,ENST00000479663,;	837	112	171	SUCCESS
PVRL4	0	.	GRCh37	1	161044159	161044159	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	33	99	0	ENST00000368012.3:c.1005C>A	p.Pro335=	p.P335=	ENST00000368012	NM_030916.2	335	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1216.1	1005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGGGGTC	NONE	.	.	hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277,Gene3D:2.60.40.10	.	.	ENSP00000356991	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000368012	Transcript	.	.	ENSG00000143217	19688	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRL4_HUMAN	PVRL4	HGNC	K4PZ75_HUMAN	.	UPI000006F072	SNV	PVRL4,synonymous_variant,p.%3D,ENST00000368012,;PVRL4,synonymous_variant,p.%3D,ENST00000453926,;ARHGAP30,upstream_gene_variant,,ENST00000368013,;ARHGAP30,upstream_gene_variant,,ENST00000368016,;ARHGAP30,upstream_gene_variant,,ENST00000368015,;PVRL4,upstream_gene_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;	1308	99	163	SUCCESS
FCRLA	84824	.	GRCh37	1	161682966	161682966	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	109	87	0	ENST00000367959.2:c.945T>A	p.Pro315=	p.P315=	ENST00000367959	NM_001184866.1	315	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS53415.1	945	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTCTGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000356936	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000367959	Transcript	.	.	ENSG00000132185	18504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FCRLA	HGNC	A6NC03_HUMAN	.	UPI0001D3957E	SNV	FCRLA,synonymous_variant,p.%3D,ENST00000367950,;FCRLA,synonymous_variant,p.%3D,ENST00000367957,;FCRLA,synonymous_variant,p.%3D,ENST00000236938,;FCRLA,synonymous_variant,p.%3D,ENST00000350710,;FCRLA,synonymous_variant,p.%3D,ENST00000367949,;FCRLA,synonymous_variant,p.%3D,ENST00000349527,;FCRLA,synonymous_variant,p.%3D,ENST00000367959,;FCRLA,synonymous_variant,p.%3D,ENST00000540926,;FCRLA,synonymous_variant,p.%3D,ENST00000546024,;FCRLA,synonymous_variant,p.%3D,ENST00000540521,;FCRLA,synonymous_variant,p.%3D,ENST00000294796,;FCRLA,synonymous_variant,p.%3D,ENST00000309691,;FCRLA,synonymous_variant,p.%3D,ENST00000367953,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,downstream_gene_variant,,ENST00000465403,;	1187	87	151	SUCCESS
DUSP27	0	.	GRCh37	1	167096996	167096996	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs767979314	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	71	56	0	ENST00000361200.2:c.2628A>T	p.Glu876Asp	p.E876D	ENST00000361200		876	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS30932.1	2628	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAAGATGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	rs767979314	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.35)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Glu876Asp,ENST00000361200,;DUSP27,missense_variant,p.Glu876Asp,ENST00000443333,;DUSP27,missense_variant,p.Glu876Asp,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	2794	56	98	SUCCESS
NBPF1	55672	.	GRCh37	1	16902790	16902790	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	492	23	638	0	ENST00000430580.2:c.2091A>G	p.Ala697=	p.A697=	ENST00000430580	NM_017940.4	697	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	.	2091	MUTECT|MUSE	.	TGCTGTGCCAG	NONE	.	.	hmmpanther:PTHR14199:SF16,hmmpanther:PTHR14199	.	.	ENSP00000474456	.	19/29	.	.	.	.	.	.	.	.	.	19/29	PASS	ENST00000430580	Transcript	.	.	ENSG00000219481	26088	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBPF1	HGNC	S4R3W5_HUMAN,S4R3K2_HUMAN,S4R3H5_HUMAN,Q3BBU8_HUMAN	.	UPI0000E04FDF	SNV	NBPF1,synonymous_variant,p.%3D,ENST00000430580,;NBPF1,synonymous_variant,p.%3D,ENST00000287968,;NBPF1,synonymous_variant,p.%3D,ENST00000432949,;NBPF1,upstream_gene_variant,,ENST00000420031,;NBPF1,3_prime_UTR_variant,,ENST00000392963,;	2979	638	515	SUCCESS
F5	2153	.	GRCh37	1	169521814	169521814	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	126	109	0	ENST00000367797.3:c.1277A>T	p.Gln426Leu	p.Q426L	ENST00000367797	NM_000130.4	426	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1281.1	1277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTGGGCT	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000356771	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,missense_variant,p.Gln426Leu,ENST00000367796,;F5,missense_variant,p.Gln289Leu,ENST00000546081,;F5,missense_variant,p.Gln426Leu,ENST00000367797,;	1479	109	169	SUCCESS
SELP	6403	.	GRCh37	1	169586539	169586539	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	30	99	0	ENST00000263686.6:c.208A>T	p.Ile70Phe	p.I70F	ENST00000263686	NM_003005.3	70	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS1282.1	208	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATGGCCA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF19,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000263686	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000263686	Transcript	.	.	ENSG00000174175	10721	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LYAM3_HUMAN	SELP	HGNC	Q6ULR6_HUMAN	.	UPI0000204D4A	SNV	SELP,missense_variant,p.Ile70Phe,ENST00000263686,;SELP,missense_variant,p.Ile70Phe,ENST00000367793,;SELP,missense_variant,p.Ile70Phe,ENST00000458599,;SELP,missense_variant,p.Ile70Phe,ENST00000367795,;SELP,missense_variant,p.Ile70Phe,ENST00000367794,;SELP,missense_variant,p.Ile69Phe,ENST00000426706,;SELP,missense_variant,p.Ile70Phe,ENST00000367786,;SELP,missense_variant,p.Ile70Phe,ENST00000367792,;SELP,missense_variant,p.Ile70Phe,ENST00000367788,;SELP,missense_variant,p.Ile70Phe,ENST00000367791,;	246	99	195	SUCCESS
FMO2	2327	.	GRCh37	1	171174726	171174726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	76	72	0	ENST00000209929.7:c.1136T>C	p.Phe379Ser	p.F379S	ENST00000209929		379	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS1293.1	1136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTCCCAA	NONE	.	.	hmmpanther:PTHR23023:SF84,hmmpanther:PTHR23023,Pfam_domain:PF00743,Gene3D:3.50.50.60,Superfamily_domains:SSF51905,Prints_domain:PR00370	.	.	ENSP00000405905	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000441535	Transcript	.	.	ENSG00000094963	3770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	FMO2_HUMAN	FMO2	HGNC	B4E2Q9_HUMAN	.	UPI000013C672	SNV	FMO2,missense_variant,p.Phe379Ser,ENST00000441535,;FMO2,missense_variant,p.Phe379Ser,ENST00000209929,;RP1-127D3.4,intron_variant,,ENST00000445909,;RP1-127D3.4,intron_variant,,ENST00000445290,;RP1-127D3.4,intron_variant,,ENST00000422841,;FMO2,non_coding_transcript_exon_variant,,ENST00000529935,;FMO2,upstream_gene_variant,,ENST00000488431,;FMO2,downstream_gene_variant,,ENST00000489354,;	1253	72	107	SUCCESS
PRRC2C	23215	.	GRCh37	1	171510057	171510057	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	247	73	173	0	ENST00000338920.4:c.3446A>T	p.Glu1149Val	p.E1149V	ENST00000338920	NM_015172.3	1149	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS1296.2	3446	RADIA|MUTECT|MUSE|VARSCANS	.	TATAGAGAGGC	NONE	.	.	hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038	.	.	ENSP00000343629	.	16/34	.	.	.	.	.	.	.	.	.	16/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,missense_variant,p.Glu1149Val,ENST00000338920,;PRRC2C,missense_variant,p.Glu1151Val,ENST00000367742,;PRRC2C,missense_variant,p.Glu1149Val,ENST00000426496,;PRRC2C,missense_variant,p.Glu1151Val,ENST00000392078,;PRRC2C,upstream_gene_variant,,ENST00000495585,;	3683	173	321	SUCCESS
MYOC	4653	.	GRCh37	1	171605647	171605647	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	23	66	0	ENST00000037502.6:c.933C>G	p.Tyr311Ter	p.Y311*	ENST00000037502	NM_000261.1	311	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS1297.1	933	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGTAGCC	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF11,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000037502	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000037502	Transcript	.	.	ENSG00000034971	7610	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOC_HUMAN	MYOC	HGNC	B4DV60_HUMAN	.	UPI00000012D6	SNV	MYOC,stop_gained,p.Tyr311Ter,ENST00000037502,;	1005	66	129	SUCCESS
METTL13	0	.	GRCh37	1	171759656	171759656	+	synonymous_variant	Silent	SNP	A	A	T	rs778224360	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	313	299	0	ENST00000361735.3:c.1374A>T	p.Ala458=	p.A458=	ENST00000361735	NM_015935.4	458	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS1299.1	1374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCCCC	NONE	.	.	hmmpanther:PTHR12176:SF13,hmmpanther:PTHR12176	.	.	ENSP00000354920	.	5/8	.	.	.	.	.	.	.	.	rs778224360	5/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,synonymous_variant,p.%3D,ENST00000458517,;METTL13,synonymous_variant,p.%3D,ENST00000361735,;METTL13,synonymous_variant,p.%3D,ENST00000367737,;METTL13,synonymous_variant,p.%3D,ENST00000362019,;METTL13,non_coding_transcript_exon_variant,,ENST00000478330,;METTL13,intron_variant,,ENST00000466643,;METTL13,upstream_gene_variant,,ENST00000476386,;METTL13,downstream_gene_variant,,ENST00000485629,;	1640	299	463	SUCCESS
DNM3	26052	.	GRCh37	1	172007520	172007520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	401	117	278	1	ENST00000355305.5:c.911T>C	p.Leu304Ser	p.L304S	ENST00000355305		304	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS53431.1	911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTGCTCT	NONE	.	.	hmmpanther:PTHR11566:SF54,hmmpanther:PTHR11566,Pfam_domain:PF01031	.	.	ENSP00000350876	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000358155	Transcript	.	.	ENSG00000197959	29125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	DYN3_HUMAN	DNM3	HGNC	E5RIK2_HUMAN	.	UPI0000251D91	SNV	DNM3,missense_variant,p.Leu304Ser,ENST00000367731,;DNM3,missense_variant,p.Leu304Ser,ENST00000355305,;DNM3,missense_variant,p.Leu304Ser,ENST00000358155,;DNM3,missense_variant,p.Leu304Ser,ENST00000367733,;DNM3,missense_variant,p.Leu194Ser,ENST00000523513,;DNM3,missense_variant,p.Leu304Ser,ENST00000520906,;	1087	279	519	SUCCESS
TNFSF4	7292	.	GRCh37	1	173174577	173174577	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	28	27	0	ENST00000281834.3:c.153+1586A>G		p.*51*	ENST00000281834	NM_003326.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1306.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATAGTCC	NONE	.	.	.	.	.	ENSP00000281834	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000281834	Transcript	.	.	ENSG00000117586	11934	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNFL4_HUMAN	TNFSF4	HGNC	.	.	UPI00001370A5	SNV	TNFSF4,5_prime_UTR_variant,,ENST00000367718,;TNFSF4,intron_variant,,ENST00000281834,;TNFSF4,non_coding_transcript_exon_variant,,ENST00000488053,;	.	27	47	SUCCESS
PADI1	29943	.	GRCh37	1	17556654	17556654	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	51	0	ENST00000375471.4:c.1004A>T	p.Lys335Met	p.K335M	ENST00000375471	NM_013358.2	335	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS178.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAAGCTGA	NONE	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	.	ENSP00000364620	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,missense_variant,p.Lys335Met,ENST00000375471,;PADI1,upstream_gene_variant,,ENST00000537499,;PADI1,upstream_gene_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000413717,;PADI1,downstream_gene_variant,,ENST00000483501,;	1096	51	44	SUCCESS
ASTN1	460	.	GRCh37	1	177001594	177001594	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs763087164	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	30	0	ENST00000361833.2:c.863C>T	p.Pro288Leu	p.P288L	ENST00000361833		288	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS1319.1	863	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGGTGTG	NONE	.	.	hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	3/23	.	.	.	.	.	.	.	.	rs763087164	3/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious_low_confidence(0)	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,missense_variant,p.Pro288Leu,ENST00000367654,;ASTN1,missense_variant,p.Pro288Leu,ENST00000424564,;ASTN1,missense_variant,p.Pro288Leu,ENST00000361833,;ASTN1,missense_variant,p.Pro288Leu,ENST00000367657,;MIR488,upstream_gene_variant,,ENST00000365739,;ASTN1,splice_region_variant,,ENST00000473640,;ASTN1,splice_region_variant,,ENST00000281881,;	877	30	64	SUCCESS
BRINP2	57795	.	GRCh37	1	177226313	177226313	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	219	183	0	ENST00000361539.4:c.462A>G		p.X154_splice	ENST00000361539	NM_021165.2	154	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS1320.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGAGAAGA	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564,Pfam_domain:PF01823,SMART_domains:SM00457	.	.	ENSP00000354481	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,synonymous_variant,p.%3D,ENST00000361539,;BRINP2,splice_region_variant,,ENST00000460161,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	774	183	289	SUCCESS
SEC16B	89866	.	GRCh37	1	177906378	177906378	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs888329087	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	61	50	0	ENST00000308284.6:c.2474A>G	p.Glu825Gly	p.E825G	ENST00000308284	NM_033127.2	825	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS44281.1	2474	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTCCCAG	NONE	.	.	hmmpanther:PTHR13402:SF8,hmmpanther:PTHR13402	.	.	ENSP00000308339	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000308284	Transcript	.	.	ENSG00000120341	30301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.743)	.	deleterious(0.01)	.	SC16B_HUMAN	SEC16B	HGNC	.	.	UPI0000203C4D	SNV	SEC16B,missense_variant,p.Glu825Gly,ENST00000308284,;SEC16B,non_coding_transcript_exon_variant,,ENST00000327037,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,upstream_gene_variant,,ENST00000495165,;SEC16B,3_prime_UTR_variant,,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;	2564	50	90	SUCCESS
STX6	10228	.	GRCh37	1	180953835	180953835	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	71	68	0	ENST00000258301.5:c.669A>G	p.Ala223=	p.A223=	ENST00000258301	NM_005819.4	223	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS1341.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTTGCAAG	NONE	.	.	PROSITE_profiles:PS50192,hmmpanther:PTHR12380:SF35,hmmpanther:PTHR12380,Gene3D:1.20.5.110,Pfam_domain:PF05739,SMART_domains:SM00397,Superfamily_domains:SSF58038	.	.	ENSP00000258301	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000258301	Transcript	.	.	ENSG00000135823	11441	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX6_HUMAN	STX6	HGNC	B4DR17_HUMAN	.	UPI00000490D6	SNV	STX6,synonymous_variant,p.%3D,ENST00000258301,;STX6,synonymous_variant,p.%3D,ENST00000542060,;AL162431.1,downstream_gene_variant,,ENST00000457152,;STX6,non_coding_transcript_exon_variant,,ENST00000469135,;STX6,downstream_gene_variant,,ENST00000496476,;	907	68	108	SUCCESS
CACNA1E	777	.	GRCh37	1	181680158	181680158	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	37	0	ENST00000367573.2:c.1124A>T	p.Gln375Leu	p.Q375L	ENST00000367573	NM_001205293.1	375	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS55664.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAGATTG	NONE	.	.	Prints_domain:PR00167,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037	.	.	ENSP00000356545	.	8/48	.	.	.	.	.	.	.	.	.	8/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	deleterious(0)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Gln375Leu,ENST00000360108,;CACNA1E,missense_variant,p.Gln375Leu,ENST00000524607,;CACNA1E,missense_variant,p.Gln326Leu,ENST00000358338,;CACNA1E,missense_variant,p.Gln326Leu,ENST00000357570,;CACNA1E,missense_variant,p.Gln375Leu,ENST00000526775,;CACNA1E,missense_variant,p.Gln375Leu,ENST00000367570,;CACNA1E,missense_variant,p.Gln375Leu,ENST00000367573,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;	1124	37	70	SUCCESS
CACNA1E	777	.	GRCh37	1	181767600	181767600	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs767186070	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	50	0	ENST00000367573.2:c.6572A>T	p.Glu2191Val	p.E2191V	ENST00000367573	NM_001205293.1	2191	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS55664.1	6572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGAGGGCT	BUFFER|p.E2190K|c.6568G>A|3,BUFFER|p.E2147K|c.6439G>A|3,BUFFER|p.E1754K|c.5260G>A|3	.	.	.	.	.	ENSP00000356545	.	48/48	.	.	.	.	.	.	.	.	rs767186070	48/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.27)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Glu2080Val,ENST00000358338,;CACNA1E,missense_variant,p.Glu1755Val,ENST00000367567,;CACNA1E,missense_variant,p.Glu2142Val,ENST00000357570,;CACNA1E,missense_variant,p.Glu2172Val,ENST00000360108,;CACNA1E,missense_variant,p.Glu2129Val,ENST00000526775,;CACNA1E,missense_variant,p.Glu2191Val,ENST00000367573,;CACNA1E,missense_variant,p.Glu2148Val,ENST00000367570,;	6572	50	72	SUCCESS
LAMC1	3915	.	GRCh37	1	183102629	183102629	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	43	78	0	ENST00000258341.4:c.3793G>T	p.Val1265Leu	p.V1265L	ENST00000258341	NM_002293.3	1265	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS1351.1	3793	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGTGGAG	NONE	.	.	hmmpanther:PTHR10574:SF228,hmmpanther:PTHR10574	.	.	ENSP00000258341	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000258341	Transcript	.	.	ENSG00000135862	6492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	LAMC1_HUMAN	LAMC1	HGNC	R4GNC7_HUMAN	.	UPI000013CFC7	SNV	LAMC1,missense_variant,p.Val1265Leu,ENST00000258341,;RP11-181K3.4,downstream_gene_variant,,ENST00000457852,;LAMC1,non_coding_transcript_exon_variant,,ENST00000478064,;LAMC1,downstream_gene_variant,,ENST00000466964,;LAMC1,upstream_gene_variant,,ENST00000495918,;	4050	78	151	SUCCESS
HMCN1	83872	.	GRCh37	1	185902889	185902889	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	29	67	0	ENST00000271588.4:c.1761A>T	p.Gly587=	p.G587=	ENST00000271588	NM_031935.2	587	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30956.1	1761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGAGTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	11/107	.	.	.	.	.	.	.	.	.	11/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	1990	67	124	SUCCESS
HMCN1	83872	.	GRCh37	1	186092186	186092186	+	synonymous_variant	Silent	SNP	A	A	G	rs758470960	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	42	58	0	ENST00000271588.4:c.12333A>G	p.Thr4111=	p.T4111=	ENST00000271588	NM_031935.2	4111	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS30956.1	12333	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACATGGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	81/107	.	.	.	.	.	.	.	.	rs758470960	81/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	12562	58	123	SUCCESS
TPR	7175	.	GRCh37	1	186291450	186291450	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	336	91	229	0	ENST00000367478.4:c.6461A>T	p.His2154Leu	p.H2154L	ENST00000367478	NM_003292.2	2154	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS41446.1	6461	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACTGAATT	NONE	.	.	hmmpanther:PTHR18898	.	.	ENSP00000356448	.	45/51	.	.	.	.	.	.	.	.	.	45/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,missense_variant,p.His2154Leu,ENST00000367478,;TPR,splice_region_variant,,ENST00000467810,;TPR,downstream_gene_variant,,ENST00000492973,;	6758	229	427	SUCCESS
TPR	7175	.	GRCh37	1	186324666	186324666	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs767953353	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	182	9	90	0	ENST00000367478.4:c.2047A>C	p.Lys683Gln	p.K683Q	ENST00000367478	NM_003292.2	683	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS41446.1	2047	MUTECT|MUSE	.	TTTTTTGTAGT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898	.	.	ENSP00000356448	.	17/51	.	.	.	.	.	.	.	.	rs767953353	17/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.403)	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,missense_variant,p.Lys683Gln,ENST00000367478,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,non_coding_transcript_exon_variant,,ENST00000491783,;TPR,upstream_gene_variant,,ENST00000469463,;	2344	90	192	SUCCESS
TPR	7175	.	GRCh37	1	186327705	186327705	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	72	71	0	ENST00000367478.4:c.1467G>C	p.Met489Ile	p.M489I	ENST00000367478	NM_003292.2	489	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS41446.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCCATTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898	.	.	ENSP00000356448	.	13/51	.	.	.	.	.	.	.	.	.	13/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,missense_variant,p.Met489Ile,ENST00000367478,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,upstream_gene_variant,,ENST00000469463,;TPR,upstream_gene_variant,,ENST00000491783,;	1764	71	109	SUCCESS
PTGS2	5743	.	GRCh37	1	186645249	186645249	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	136	121	0	ENST00000367468.5:c.1038A>G	p.Lys346=	p.K346=	ENST00000367468	NM_000963.2	346	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS1371.1	1038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAATTTCAG	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11903:SF8,hmmpanther:PTHR11903,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000356438	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000367468	Transcript	.	.	ENSG00000073756	9605	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGH2_HUMAN	PTGS2	HGNC	D9MWI3_HUMAN	.	UPI000000D926	SNV	PTGS2,synonymous_variant,p.%3D,ENST00000367468,;RP5-973M2.2,upstream_gene_variant,,ENST00000608917,;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,downstream_gene_variant,,ENST00000559800,;PTGS2,3_prime_UTR_variant,,ENST00000559627,;	1175	121	199	SUCCESS
PAX7	5081	.	GRCh37	1	19071418	19071418	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	39	125	0	ENST00000420770.2:c.1513T>G	p.Tyr505Asp	p.Y505D	ENST00000420770	NM_001135254.1	505	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	.	CCDS44074.1	1513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTACTAG	NONE	.	.	.	.	.	ENSP00000403389	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000420770	Transcript	.	.	ENSG00000009709	8621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	PAX7_HUMAN	PAX7	HGNC	.	.	UPI0000E1E6AE	SNV	PAX7,missense_variant,p.Tyr505Asp,ENST00000420770,;	1596	125	103	SUCCESS
RGS13	6003	.	GRCh37	1	192627447	192627447	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs568720010	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	176	123	1	ENST00000391995.2:c.244A>T	p.Arg82Trp	p.R82W	ENST00000391995	NM_002927.4	82	Agg/Tgg	0	.	G:0	.	G:0	.	T	R/W	protein_coding	YES	CCDS1376.1	244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAGGGCA	NONE	by1000G	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF32,Gene3D:1.10.167.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301	G:0	.	ENSP00000375853	G:0	6/7	.	.	.	.	.	.	.	.	rs568720010	6/7	PASS	ENST00000391995	Transcript	.	G:0.0002	ENSG00000127074	9995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	G:0.001	deleterious(0.02)	.	RGS13_HUMAN	RGS13	HGNC	.	.	UPI0000000E00	SNV	RGS13,missense_variant,p.Arg82Trp,ENST00000391995,;RGS13,missense_variant,p.Arg82Trp,ENST00000543215,;RGS13,non_coding_transcript_exon_variant,,ENST00000482095,;RGS13,non_coding_transcript_exon_variant,,ENST00000462955,;	532	124	240	SUCCESS
UCHL5	51377	.	GRCh37	1	192993077	192993077	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	43	50	0	ENST00000367455.4:c.630-1G>T		p.X210_splice	ENST00000367455	NM_015984.3	210		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1378.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCTAGAA	NONE	.	.	.	.	.	ENSP00000356425	.	.	.	.	.	.	.	.	.	.	COSM677411	.	PASS	ENST00000367455	Transcript	.	.	ENSG00000116750	19678	.	.	HIGH	7/10	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	UCHL5_HUMAN	UCHL5	HGNC	.	.	UPI000013CF2A	SNV	UCHL5,splice_acceptor_variant,,ENST00000367451,;UCHL5,splice_acceptor_variant,,ENST00000367449,;UCHL5,splice_acceptor_variant,,ENST00000367452,;UCHL5,splice_acceptor_variant,,ENST00000421683,;UCHL5,splice_acceptor_variant,,ENST00000367448,;UCHL5,splice_acceptor_variant,,ENST00000530098,;UCHL5,splice_acceptor_variant,,ENST00000420791,;UCHL5,splice_acceptor_variant,,ENST00000367455,;UCHL5,splice_acceptor_variant,,ENST00000443327,;UCHL5,splice_acceptor_variant,,ENST00000367450,;UCHL5,splice_acceptor_variant,,ENST00000367454,;UCHL5,upstream_gene_variant,,ENST00000416915,;UCHL5,upstream_gene_variant,,ENST00000449480,;	.	50	125	SUCCESS
TROVE2	0	.	GRCh37	1	193045014	193045014	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	213	98	153	0	ENST00000367446.3:c.645A>G	p.Glu215=	p.E215=	ENST00000367446	NM_004600.5	215	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1379.1	645	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAAAAAGC	NONE	.	.	PROSITE_profiles:PS50988,hmmpanther:PTHR14202:SF0,hmmpanther:PTHR14202,Pfam_domain:PF05731,Superfamily_domains:0051422	.	.	ENSP00000356416	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000367446	Transcript	.	.	ENSG00000116747	11313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RO60_HUMAN	TROVE2	HGNC	G5E9R9_HUMAN,D6RDN1_HUMAN	.	UPI0000072E7F	SNV	TROVE2,synonymous_variant,p.%3D,ENST00000367444,;TROVE2,synonymous_variant,p.%3D,ENST00000415442,;TROVE2,synonymous_variant,p.%3D,ENST00000400968,;TROVE2,synonymous_variant,p.%3D,ENST00000512587,;TROVE2,synonymous_variant,p.%3D,ENST00000367441,;TROVE2,synonymous_variant,p.%3D,ENST00000367446,;TROVE2,synonymous_variant,p.%3D,ENST00000367443,;TROVE2,synonymous_variant,p.%3D,ENST00000367445,;TROVE2,5_prime_UTR_variant,,ENST00000432079,;TROVE2,5_prime_UTR_variant,,ENST00000416058,;TROVE2,intron_variant,,ENST00000460715,;	855	153	311	SUCCESS
CFH	3075	.	GRCh37	1	196714988	196714988	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	83	221	0	ENST00000367429.4:c.3355del	p.Asp1119ThrfsTer32	p.D1119Tfs*32	ENST00000367429	NM_000186.3	1118	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS1385.1	3352	INDELOCATOR*|VARSCANI*|PINDEL	.	GACAATGGGGAC	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356399	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000367429	Transcript	.	.	ENSG00000000971	4883	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CFAH_HUMAN	CFH	HGNC	.	.	UPI000013C4D1	deletion	CFH,frameshift_variant,p.Asp1119ThrfsTer32,ENST00000367429,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;CFH,downstream_gene_variant,,ENST00000470918,;	3592	221	188	SUCCESS
NEK7	140609	.	GRCh37	1	198233311	198233311	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	148	338	0	ENST00000367385.4:c.318A>G	p.Glu106=	p.E106=	ENST00000367385	NM_133494.2	106	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS1394.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAACTAAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF228,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000356355	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367385	Transcript	.	.	ENSG00000151414	13386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK7_HUMAN	NEK7	HGNC	F8WAG2_HUMAN,F5H3U7_HUMAN,C9J1H8_HUMAN	.	UPI0000073180	SNV	NEK7,synonymous_variant,p.%3D,ENST00000367385,;NEK7,synonymous_variant,p.%3D,ENST00000538004,;NEK7,downstream_gene_variant,,ENST00000391974,;	660	338	181	SUCCESS
C1orf106	0	.	GRCh37	1	200877954	200877954	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	271	0	ENST00000413687.2:c.671C>T	p.Pro224Leu	p.P224L	ENST00000413687	NM_001142569.2	224	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS44292.1	671	MUTECT|MUSE|VARSCANS	.	AGGACCTGAGG	NONE	.	.	hmmpanther:PTHR16093:SF4,hmmpanther:PTHR16093	.	.	ENSP00000392105	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000413687	Transcript	.	.	ENSG00000163362	25599	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.69)	.	CA106_HUMAN	C1orf106	HGNC	E9PK29_HUMAN,C9JAT8_HUMAN	.	UPI0000204714	SNV	C1orf106,missense_variant,p.Pro309Leu,ENST00000367342,;C1orf106,missense_variant,p.Pro224Leu,ENST00000413687,;C1orf106,non_coding_transcript_exon_variant,,ENST00000526172,;C1orf106,downstream_gene_variant,,ENST00000531649,;C1orf106,upstream_gene_variant,,ENST00000465162,;	1032	272	141	SUCCESS
TNNT2	7139	.	GRCh37	1	201330261	201330261	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	12	18	0	ENST00000236918.7:c.795+146T>A		p.*265*	ENST00000236918				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30969.1	.	MUTECT|MUSE	.	AGGCCAGGCAG	NONE	.	.	.	.	.	ENSP00000422031	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000509001	Transcript	.	.	ENSG00000118194	11949	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNNT2_HUMAN	TNNT2	HGNC	Q8IZA1_HUMAN,Q15608_HUMAN,A9QLG2_HUMAN,A9QLG1_HUMAN	.	UPI000014A55F	SNV	TNNT2,intron_variant,,ENST00000367318,;TNNT2,intron_variant,,ENST00000458432,;TNNT2,intron_variant,,ENST00000367317,;TNNT2,intron_variant,,ENST00000360372,;TNNT2,intron_variant,,ENST00000367315,;TNNT2,intron_variant,,ENST00000509001,;TNNT2,intron_variant,,ENST00000367322,;TNNT2,intron_variant,,ENST00000421663,;TNNT2,intron_variant,,ENST00000438742,;TNNT2,intron_variant,,ENST00000367320,;TNNT2,intron_variant,,ENST00000236918,;TNNT2,downstream_gene_variant,,ENST00000422165,;TNNT2,downstream_gene_variant,,ENST00000455702,;TNNT2,downstream_gene_variant,,ENST00000412633,;TNNT2,non_coding_transcript_exon_variant,,ENST00000460780,;TNNT2,non_coding_transcript_exon_variant,,ENST00000477035,;TNNT2,intron_variant,,ENST00000476888,;TNNT2,intron_variant,,ENST00000479297,;TNNT2,downstream_gene_variant,,ENST00000466570,;TNNT2,non_coding_transcript_exon_variant,,ENST00000515042,;TNNT2,intron_variant,,ENST00000491504,;TNNT2,downstream_gene_variant,,ENST00000503459,;	.	18	13	SUCCESS
LMOD1	25802	.	GRCh37	1	201915517	201915517	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	17	48	0	ENST00000367288.4:c.-49C>T		p.*17*	ENST00000367288	NM_012134.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53457.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGCAGGG	NONE	.	.	.	.	.	ENSP00000356257	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000367288	Transcript	.	.	ENSG00000163431	6647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LMOD1_HUMAN	LMOD1	HGNC	B4DIX9_HUMAN	.	UPI00003665F4	SNV	LMOD1,5_prime_UTR_variant,,ENST00000367288,;	199	48	21	SUCCESS
LGR6	59352	.	GRCh37	1	202287908	202287908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	15	45	0	ENST00000367278.3:c.2477T>A	p.Leu826Gln	p.L826Q	ENST00000367278	NM_001017403.1	826	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS30971.1	2477	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCTGTACC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12	.	.	ENSP00000356247	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,missense_variant,p.Leu774Gln,ENST00000255432,;LGR6,missense_variant,p.Leu826Gln,ENST00000367278,;LGR6,missense_variant,p.Leu687Gln,ENST00000439764,;LGR6,3_prime_UTR_variant,,ENST00000487787,;	2566	45	16	SUCCESS
SLC26A9	115019	.	GRCh37	1	205897161	205897161	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	27	53	0	ENST00000367135.3:c.970T>A	p.Ser324Thr	p.S324T	ENST00000367135	NM_052934.3	324	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS30989.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGACACCG	CODON|p.S324L|c.971C>T|3,CODON|p.S324L|c.971C>T|3	.	.	hmmpanther:PTHR11814:SF17,hmmpanther:PTHR11814,TIGRFAM_domain:TIGR00815,Pfam_domain:PF00916	.	.	ENSP00000356102	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.41)	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,missense_variant,p.Ser324Thr,ENST00000367135,;SLC26A9,missense_variant,p.Ser324Thr,ENST00000340781,;SLC26A9,missense_variant,p.Ser324Thr,ENST00000367134,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000469392,;SLC26A9,upstream_gene_variant,,ENST00000461505,;	1084	53	31	SUCCESS
CR1	1378	.	GRCh37	1	207741308	207741308	+	synonymous_variant	Silent	SNP	A	A	G	rs770305879	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	87	219	0	ENST00000367051.1:c.2742A>G	p.Gly914=	p.G914=	ENST00000367051		914	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS44308.1	4092	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGAGAGAG	NONE	byFrequency	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	25/47	.	.	.	.	.	.	.	.	rs770305879	25/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,synonymous_variant,p.%3D,ENST00000367051,;CR1,synonymous_variant,p.%3D,ENST00000400960,;CR1,synonymous_variant,p.%3D,ENST00000367049,;CR1,synonymous_variant,p.%3D,ENST00000367053,;CR1,intron_variant,,ENST00000367052,;CR1,intron_variant,,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,downstream_gene_variant,,ENST00000596003,;CR1,non_coding_transcript_exon_variant,,ENST00000436595,;	4092	219	111	SUCCESS
KIF17	57576	.	GRCh37	1	21013989	21013989	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	62	0	ENST00000247986.2:c.1830A>G	p.Leu610=	p.L610=	ENST00000247986		610	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS213.1	1830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTAGTAA	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415	.	.	ENSP00000247986	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000247986	Transcript	.	.	ENSG00000117245	19167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF17_HUMAN	KIF17	HGNC	.	.	UPI0000185F1A	SNV	KIF17,synonymous_variant,p.%3D,ENST00000247986,;KIF17,synonymous_variant,p.%3D,ENST00000400463,;KIF17,synonymous_variant,p.%3D,ENST00000375044,;KIF17,intron_variant,,ENST00000490034,;KIF17,upstream_gene_variant,,ENST00000477167,;KIF17,upstream_gene_variant,,ENST00000498225,;KIF17,upstream_gene_variant,,ENST00000462858,;	2141	62	55	SUCCESS
RCOR3	55758	.	GRCh37	1	211447593	211447593	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	148	386	0	ENST00000367005.4:c.169A>G	p.Asn57Asp	p.N57D	ENST00000367005	NM_018254.3	57	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS44312.1	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACAATGTG	NONE	.	.	PROSITE_profiles:PS51156,hmmpanther:PTHR16089	.	.	ENSP00000413929	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,missense_variant,p.Asn57Asp,ENST00000534478,;RCOR3,missense_variant,p.Asn115Asp,ENST00000452621,;RCOR3,missense_variant,p.Asn57Asp,ENST00000533469,;RCOR3,missense_variant,p.Asn115Asp,ENST00000367006,;RCOR3,missense_variant,p.Asn115Asp,ENST00000419091,;RCOR3,missense_variant,p.Asn57Asp,ENST00000367005,;RCOR3,upstream_gene_variant,,ENST00000534460,;RCOR3,missense_variant,p.Asn147Asp,ENST00000528926,;RCOR3,3_prime_UTR_variant,,ENST00000529572,;RCOR3,downstream_gene_variant,,ENST00000528408,;	471	386	186	SUCCESS
RPS6KC1	26750	.	GRCh37	1	213303010	213303010	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	26	83	0	ENST00000366960.3:c.613G>T	p.Gly205Trp	p.G205W	ENST00000366960	NM_012424.3	205	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS1513.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTAGGGGCT	NONE	.	.	hmmpanther:PTHR15508:SF2,hmmpanther:PTHR15508	.	.	ENSP00000355927	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000366960	Transcript	.	.	ENSG00000136643	10439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	KS6C1_HUMAN	RPS6KC1	HGNC	.	.	UPI0000071B8C	SNV	RPS6KC1,missense_variant,p.Gly193Trp,ENST00000366959,;RPS6KC1,missense_variant,p.Gly205Trp,ENST00000366960,;RPS6KC1,missense_variant,p.Gly24Trp,ENST00000543470,;RPS6KC1,intron_variant,,ENST00000543354,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000468069,;	763	83	38	SUCCESS
CENPF	1063	.	GRCh37	1	214818921	214818921	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs772543101	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	56	127	0	ENST00000366955.3:c.6008A>T	p.Gln2003Leu	p.Q2003L	ENST00000366955	NM_016343.3	2003	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS31023.1	6008	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCAGGTGG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	13/20	.	.	.	.	.	.	.	.	rs772543101	13/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Gln2003Leu,ENST00000366955,;CENPF,upstream_gene_variant,,ENST00000467765,;	6176	127	69	SUCCESS
USH2A	7399	.	GRCh37	1	216373134	216373134	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs376703788	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	65	139	0	ENST00000307340.3:c.3646T>A	p.Tyr1216Asn	p.Y1216N	ENST00000307340	NM_206933.2	1216	Tac/Aac	0	G:0	.	.	.	.	T	Y/N	protein_coding	YES	CCDS31025.1	3646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGTACTTGG	BUFFER|p.D1217N|c.3649G>A|3,BUFFER|p.D1217N|c.3649G>A|3,BUFFER|p.D1217N|c.3649G>A|5	byCluster	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	G:0.0001	ENSP00000305941	.	17/72	.	.	.	.	.	.	.	.	rs376703788	17/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Tyr1216Asn,ENST00000366942,;USH2A,missense_variant,p.Tyr1216Asn,ENST00000366943,;USH2A,missense_variant,p.Tyr1216Asn,ENST00000307340,;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	4033	139	81	SUCCESS
LDLRAD2	401944	.	GRCh37	1	22141096	22141096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	44	63	0	ENST00000344642.2:c.291C>A	p.Asn97Lys	p.N97K	ENST00000344642	NM_001013693.2	97	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS30624.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAACACCTC	NONE	.	.	hmmpanther:PTHR24652:SF54,hmmpanther:PTHR24652,Gene3D:2.60.120.290,Superfamily_domains:SSF49854	.	.	ENSP00000340988	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000344642	Transcript	.	.	ENSG00000187942	32071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.541)	.	tolerated(0.16)	.	LRAD2_HUMAN	LDLRAD2	HGNC	.	.	UPI0000470177	SNV	LDLRAD2,missense_variant,p.Asn97Lys,ENST00000344642,;LDLRAD2,missense_variant,p.Asn97Lys,ENST00000543870,;	478	63	80	SUCCESS
CELA3B	23436	.	GRCh37	1	22303517	22303517	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	46	97	0	ENST00000337107.6:c.-16T>C		p.*6*	ENST00000337107	NM_007352.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS219.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTATCAT	NONE	.	.	.	.	.	ENSP00000338369	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000337107	Transcript	.	.	ENSG00000219073	15945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEL3B_HUMAN	CELA3B	HGNC	.	.	UPI0000156D2F	SNV	CELA3B,5_prime_UTR_variant,,ENST00000337107,;CELA3B,upstream_gene_variant,,ENST00000374666,;CELA3B,upstream_gene_variant,,ENST00000400277,;RN7SL421P,downstream_gene_variant,,ENST00000582599,;	4	97	87	SUCCESS
CELA3A	10136	.	GRCh37	1	22332376	22332376	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	68	0	ENST00000290122.3:c.362+87T>A		p.*121*	ENST00000290122	NM_005747.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTCTGAGTA	NONE	.	.	.	.	.	ENSP00000290122	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290122	Transcript	.	.	ENSG00000142789	15944	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEL3A_HUMAN	CELA3A	HGNC	B1AQ52_HUMAN	.	UPI0000175BF8	SNV	CELA3A,3_prime_UTR_variant,,ENST00000374663,;CELA3A,intron_variant,,ENST00000290122,;CELA3A,upstream_gene_variant,,ENST00000400271,;RN7SL186P,upstream_gene_variant,,ENST00000466485,;RN7SL768P,upstream_gene_variant,,ENST00000584415,;	.	68	53	SUCCESS
CAPN8	388743	.	GRCh37	1	223717520	223717520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1	16	38	0	ENST00000366872.5:c.1872G>T	p.Gln624His	p.Q624H	ENST00000366872		624	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	.	1872	RADIA|MUTECT|MUSE	.	GTCTGCTGCAC	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF52,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000355837	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000366872	Transcript	.	.	ENSG00000203697	1485	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.222)	.	.	.	CAN8_HUMAN	CAPN8	HGNC	.	.	UPI0001AE7978	SNV	CAPN8,missense_variant,p.Gln99His,ENST00000430824,;CAPN8,missense_variant,p.Gln624His,ENST00000366872,;CAPN8,intron_variant,,ENST00000442247,;CAPN8,non_coding_transcript_exon_variant,,ENST00000482401,;CAPN8,non_coding_transcript_exon_variant,,ENST00000482183,;CAPN8,upstream_gene_variant,,ENST00000484873,;	1872	38	17	SUCCESS
ITPKB	3707	.	GRCh37	1	226835068	226835068	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	14	41	0	ENST00000272117.3:c.2046A>T	p.Ala682=	p.A682=	ENST00000272117		682	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1555.1	2046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTGCCTT	NONE	.	.	hmmpanther:PTHR12400:SF4,hmmpanther:PTHR12400,Superfamily_domains:SSF56104	.	.	ENSP00000411152	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,synonymous_variant,p.%3D,ENST00000272117,;ITPKB,synonymous_variant,p.%3D,ENST00000429204,;	2374	41	16	SUCCESS
OBSCN	84033	.	GRCh37	1	228529819	228529819	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs866397618	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	59	109	2	ENST00000422127.1:c.18035-1G>T		p.X6012_splice	ENST00000422127	NM_001098623.2	6012		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59204.1	.	SOMATICSNIPER|VARSCANS	.	CCTCAGGGCCC	NONE	.	.	.	.	.	ENSP00000455507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	HIGH	85/115	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,splice_acceptor_variant,,ENST00000366707,;OBSCN,splice_acceptor_variant,,ENST00000366709,;OBSCN,splice_acceptor_variant,,ENST00000284548,;OBSCN,splice_acceptor_variant,,ENST00000441106,;OBSCN,splice_acceptor_variant,,ENST00000422127,;OBSCN,splice_acceptor_variant,,ENST00000570156,;	.	111	67	SUCCESS
URB2	9816	.	GRCh37	1	229773082	229773082	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	28	55	0	ENST00000258243.2:c.2722A>T	p.Ser908Cys	p.S908C	ENST00000258243	NM_014777.2	908	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS31052.1	2722	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACAGCCTC	NONE	.	.	hmmpanther:PTHR15682	.	.	ENSP00000258243	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000258243	Transcript	.	.	ENSG00000135763	28967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious(0.05)	.	URB2_HUMAN	URB2	HGNC	Q5VYD0_HUMAN	.	UPI000013CFBD	SNV	URB2,missense_variant,p.Ser908Cys,ENST00000258243,;	2858	55	30	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232577103	232577103	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	0	17	32	0	ENST00000262861.4:c.3576T>A	p.Gly1192=	p.G1192=	ENST00000262861	NM_020808.3	1192	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41474.1	3576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGAACCCAG	NONE	.	.	hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	.	.	ENSP00000355589	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000366630	Transcript	.	.	ENSG00000116991	23800	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,synonymous_variant,p.%3D,ENST00000366630,;SIPA1L2,synonymous_variant,p.%3D,ENST00000308942,;SIPA1L2,synonymous_variant,p.%3D,ENST00000262861,;	3935	32	17	SUCCESS
PCNXL2	0	.	GRCh37	1	233353792	233353792	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	66	153	0	ENST00000258229.9:c.2643G>T	p.Gln881His	p.Q881H	ENST00000258229	NM_014801.3	881	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS44335.1	2643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTACTGGCA	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	.	.	ENSP00000258229	.	11/34	.	.	.	.	.	.	.	.	.	11/34	PASS	ENST00000258229	Transcript	.	.	ENSG00000135749	8736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	tolerated(0.07)	.	PCX2_HUMAN	PCNXL2	HGNC	B3KNZ5_HUMAN	.	UPI0000F58F23	SNV	PCNXL2,missense_variant,p.Gln180His,ENST00000430153,;PCNXL2,missense_variant,p.Gln61His,ENST00000518351,;PCNXL2,missense_variant,p.Gln14His,ENST00000488780,;PCNXL2,missense_variant,p.Gln881His,ENST00000258229,;PCNXL2,missense_variant,p.Gln15His,ENST00000517808,;PCNXL2,3_prime_UTR_variant,,ENST00000475463,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000519530,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000324142,;	2878	153	76	SUCCESS
GGPS1	9453	.	GRCh37	1	235505654	235505654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	43	109	0	ENST00000282841.5:c.470G>A	p.Gly157Glu	p.G157E	ENST00000282841		157	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS1604.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGGATTAG	NONE	.	.	hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF44,Pfam_domain:PF00348,Gene3D:1.10.600.10,Superfamily_domains:SSF48576	.	.	ENSP00000282841	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282841	Transcript	.	.	ENSG00000152904	4249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.359)	.	tolerated(0.1)	.	GGPPS_HUMAN	GGPS1	HGNC	C9J7M1_HUMAN,C9J6G3_HUMAN,A8MVQ8_HUMAN	.	UPI000012B3FB	SNV	GGPS1,missense_variant,p.Gly157Glu,ENST00000497327,;GGPS1,missense_variant,p.Gly157Glu,ENST00000476121,;GGPS1,missense_variant,p.Gly157Glu,ENST00000358966,;GGPS1,missense_variant,p.Gly157Glu,ENST00000488594,;GGPS1,missense_variant,p.Gly157Glu,ENST00000282841,;GGPS1,missense_variant,p.Gly157Glu,ENST00000471812,;GGPS1,missense_variant,p.Gly103Glu,ENST00000391855,;	702	109	52	SUCCESS
HNRNPR	10236	.	GRCh37	1	23637344	23637344	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	43	0	ENST00000302271.6:c.1505G>T	p.Arg502Ile	p.R502I	ENST00000302271		502	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS44085.1	1514	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCTTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24011:SF131,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01648	.	.	ENSP00000363745	.	11/11	.	.	.	.	.	.	.	.	COSM98088,COSM98089	11/11	PASS	ENST00000374616	Transcript	.	.	ENSG00000125944	5047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	unknown(0)	.	deleterious(0.05)	1,1	HNRPR_HUMAN	HNRNPR	HGNC	S4R3J4_HUMAN,Q7Z334_HUMAN	.	UPI000006F30B	SNV	HNRNPR,missense_variant,p.Arg505Ile,ENST00000374616,;HNRNPR,missense_variant,p.Arg404Ile,ENST00000478691,;HNRNPR,missense_variant,p.Arg502Ile,ENST00000302271,;HNRNPR,missense_variant,p.Arg464Ile,ENST00000427764,;HNRNPR,missense_variant,p.Arg363Ile,ENST00000606561,;HNRNPR,missense_variant,p.Arg502Ile,ENST00000374612,;HNRNPR,missense_variant,p.Arg342Ile,ENST00000426846,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000476660,;HNRNPR,downstream_gene_variant,,ENST00000463552,;HNRNPR,upstream_gene_variant,,ENST00000464516,;HNRNPR,downstream_gene_variant,,ENST00000470941,;	1623	43	45	SUCCESS
RYR2	6262	.	GRCh37	1	237872815	237872815	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	22	63	0	ENST00000366574.2:c.10178A>T	p.Glu3393Val	p.E3393V	ENST00000366574	NM_001035.2	3393	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS55691.1	10178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGAGGAGC	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	70/105	.	.	.	.	.	.	.	.	.	70/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.916)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Glu3377Val,ENST00000542537,;RYR2,missense_variant,p.Glu3393Val,ENST00000366574,;RYR2,missense_variant,p.Glu3391Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	10495	63	32	SUCCESS
PLCH2	9651	.	GRCh37	1	2409915	2409915	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	50	0	ENST00000378486.3:c.125T>C	p.Val42Ala	p.V42A	ENST00000378486	NM_014638.2	42	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	.	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGTGGAGC	NONE	.	.	Superfamily_domains:SSF50729,Gene3D:2.30.29.30,hmmpanther:PTHR10336:SF21,hmmpanther:PTHR10336	.	.	ENSP00000397289	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000449969	Transcript	.	.	ENSG00000149527	29037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	deleterious(0)	.	PLCH2_HUMAN	PLCH2	HGNC	.	.	UPI00006C0134	SNV	PLCH2,missense_variant,p.Val42Ala,ENST00000419816,;PLCH2,missense_variant,p.Val39Ala,ENST00000609981,;PLCH2,missense_variant,p.Val42Ala,ENST00000378486,;PLCH2,missense_variant,p.Val15Ala,ENST00000449969,;PLCH2,missense_variant,p.Val42Ala,ENST00000378488,;PLCH2,splice_region_variant,,ENST00000288766,;PLCH2,upstream_gene_variant,,ENST00000278878,;PLCH2,upstream_gene_variant,,ENST00000343889,;	205	50	38	SUCCESS
CNR2	1269	.	GRCh37	1	24201051	24201051	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	48	0	ENST00000374472.4:c.1057A>G	p.Arg353Gly	p.R353G	ENST00000374472	NM_001841.2	353	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS245.1	1057	RADIA|MUTECT|MUSE	.	ATCTCTGGAAT	NONE	.	.	hmmpanther:PTHR22750:SF11,hmmpanther:PTHR22750	.	.	ENSP00000442830	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000536471	Transcript	.	.	ENSG00000188822	2160	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.1)	.	CNR2_HUMAN	CNR2	HGNC	C6ES44_HUMAN	.	UPI000000DCA3	SNV	CNR2,missense_variant,p.Arg353Gly,ENST00000536471,;CNR2,missense_variant,p.Arg353Gly,ENST00000374472,;	1316	48	54	SUCCESS
SDCCAG8	10806	.	GRCh37	1	243433405	243433405	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	25	68	0	ENST00000366541.3:c.68-2A>C		p.X23_splice	ENST00000366541	NM_006642.3	23		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31075.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCAGAACA	NONE	.	.	.	.	.	ENSP00000355499	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366541	Transcript	.	.	ENSG00000054282	10671	.	.	HIGH	1/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDCG8_HUMAN	SDCCAG8	HGNC	A6NCS9_HUMAN	.	UPI000000D77E	SNV	SDCCAG8,splice_acceptor_variant,,ENST00000355875,;SDCCAG8,splice_acceptor_variant,,ENST00000391846,;SDCCAG8,splice_acceptor_variant,,ENST00000366541,;SDCCAG8,intron_variant,,ENST00000343783,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000490065,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000491888,;SDCCAG8,upstream_gene_variant,,ENST00000482234,;FCF1P7,upstream_gene_variant,,ENST00000451185,;	.	68	27	SUCCESS
KIF26B	55083	.	GRCh37	1	245850542	245850542	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	26	79	1	ENST00000407071.2:c.4257A>T	p.Thr1419=	p.T1419=	ENST00000407071	NM_018012.3	1419	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS44342.1	4257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACATTAGC	NONE	.	.	hmmpanther:PTHR24115:SF363,hmmpanther:PTHR24115	.	.	ENSP00000385545	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,synonymous_variant,p.%3D,ENST00000407071,;KIF26B,synonymous_variant,p.%3D,ENST00000366518,;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	4697	80	34	SUCCESS
ZNF669	79862	.	GRCh37	1	247264199	247264199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	18	70	0	ENST00000343381.6:c.872G>T	p.Gly291Val	p.G291V	ENST00000343381	NM_024804.2	291	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31088.1	872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAACCGGAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF127,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	.	.	ENSP00000342818	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000343381	Transcript	.	.	ENSG00000188295	25736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	tolerated(0.05)	.	ZN669_HUMAN	ZNF669	HGNC	.	.	UPI000013E1E0	SNV	ZNF669,missense_variant,p.Gly291Val,ENST00000343381,;ZNF669,missense_variant,p.Gly205Val,ENST00000448299,;ZNF669,3_prime_UTR_variant,,ENST00000366501,;ZNF669,3_prime_UTR_variant,,ENST00000358785,;ZNF669,downstream_gene_variant,,ENST00000366500,;ZNF669,downstream_gene_variant,,ENST00000476158,;	1045	70	26	SUCCESS
SRRM1	10250	.	GRCh37	1	24996026	24996026	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	105	289	0	ENST00000323848.9:c.2152A>G	p.Thr718Ala	p.T718A	ENST00000323848	NM_005839.3	718	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS255.1	2152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTACTAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23148	.	.	ENSP00000326261	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000323848	Transcript	.	.	ENSG00000133226	16638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	.	.	SRRM1_HUMAN	SRRM1	HGNC	M0QXG5_HUMAN	.	UPI000013EBEB	SNV	SRRM1,missense_variant,p.Thr718Ala,ENST00000323848,;SRRM1,missense_variant,p.Thr730Ala,ENST00000447431,;SRRM1,missense_variant,p.Thr727Ala,ENST00000374389,;SRRM1,downstream_gene_variant,,ENST00000537199,;SRRM1,downstream_gene_variant,,ENST00000596378,;snoU13,upstream_gene_variant,,ENST00000459464,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,downstream_gene_variant,,ENST00000461768,;SRRM1,upstream_gene_variant,,ENST00000474843,;SRRM1,downstream_gene_variant,,ENST00000489130,;	2467	289	217	SUCCESS
LIN28A	79727	.	GRCh37	1	26751824	26751824	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	48	160	1	ENST00000254231.4:c.259T>A	p.Leu87Met	p.L87M	ENST00000254231		87	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS280.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTTGAAG	NONE	.	.	hmmpanther:PTHR11544,Gene3D:2.40.50.140,Pfam_domain:PF00313,SMART_domains:SM00357,Superfamily_domains:SSF50249,Prints_domain:PR00050	.	.	ENSP00000363314	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000326279	Transcript	.	.	ENSG00000131914	15986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	LN28A_HUMAN	LIN28A	HGNC	.	.	UPI000006F0DA	SNV	LIN28A,missense_variant,p.Leu87Met,ENST00000254231,;LIN28A,missense_variant,p.Leu87Met,ENST00000326279,;	373	162	139	SUCCESS
ZDHHC18	84243	.	GRCh37	1	27177682	27177682	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	103	0	ENST00000374142.4:c.896A>T	p.His299Leu	p.H299L	ENST00000374142	NM_032283.2	299	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS30650.1	896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCACACGT	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF01529,hmmpanther:PTHR22883:SF37,hmmpanther:PTHR22883	.	.	ENSP00000363257	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000374142	Transcript	.	.	ENSG00000204160	20712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZDH18_HUMAN	ZDHHC18	HGNC	E9PJS3_HUMAN,B4DQ84_HUMAN	.	UPI00001C0437	SNV	ZDHHC18,missense_variant,p.His64Leu,ENST00000488397,;ZDHHC18,missense_variant,p.His299Leu,ENST00000374142,;ZDHHC18,missense_variant,p.His164Leu,ENST00000374141,;ZDHHC18,downstream_gene_variant,,ENST00000534643,;ZDHHC18,non_coding_transcript_exon_variant,,ENST00000478902,;	991	103	85	SUCCESS
TMEM222	84065	.	GRCh37	1	27648780	27648780	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	90	173	0	ENST00000374076.4:c.92A>T	p.Glu31Val	p.E31V	ENST00000374076	NM_032125.2	31	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS297.2	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGAGACGG	NONE	.	.	hmmpanther:PTHR20921	.	.	ENSP00000363189	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000374076	Transcript	.	.	ENSG00000186501	25363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	deleterious(0.05)	.	TM222_HUMAN	TMEM222	HGNC	Q8TDQ4_HUMAN	.	UPI0000DB3EE6	SNV	TMEM222,missense_variant,p.Glu13Val,ENST00000466759,;TMEM222,missense_variant,p.Glu31Val,ENST00000374076,;TMEM222,missense_variant,p.Glu4Val,ENST00000464813,;TMEM222,5_prime_UTR_variant,,ENST00000608611,;TMEM222,upstream_gene_variant,,ENST00000498220,;RNU6-48P,upstream_gene_variant,,ENST00000384161,;TMEM222,missense_variant,p.Glu13Val,ENST00000486082,;TMEM222,missense_variant,p.Glu15Val,ENST00000464720,;TMEM222,missense_variant,p.Glu2Val,ENST00000478104,;RP11-4K3__A.5,upstream_gene_variant,,ENST00000486001,;	130	173	165	SUCCESS
RCC1	1104	.	GRCh37	1	28864505	28864505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	62	0	ENST00000373832.1:c.1252A>G	p.Lys418Glu	p.K418E	ENST00000373832	NM_001269.4	418	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS41295.1	1345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAAAGAA	NONE	.	.	hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF123,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000362937	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000373831	Transcript	.	.	ENSG00000180198	1913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.03)	.	RCC1_HUMAN	RCC1	HGNC	.	.	UPI0000204066	SNV	RCC1,missense_variant,p.Lys449Glu,ENST00000373831,;RCC1,missense_variant,p.Lys418Glu,ENST00000373833,;RCC1,missense_variant,p.Lys418Glu,ENST00000398958,;RCC1,missense_variant,p.Lys418Glu,ENST00000373832,;RCC1,downstream_gene_variant,,ENST00000430407,;RCC1,downstream_gene_variant,,ENST00000419074,;RCC1,downstream_gene_variant,,ENST00000434290,;RCC1,downstream_gene_variant,,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000411533,;RCC1,downstream_gene_variant,,ENST00000429051,;RCC1,downstream_gene_variant,,ENST00000478232,;	1406	62	34	SUCCESS
PRDM16	63976	.	GRCh37	1	3102902	3102902	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	47	176	0	ENST00000270722.5:c.251T>A	p.Phe84Tyr	p.F84Y	ENST00000270722		84	tTc/tAc	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS41236.2	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTTCGAGC	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000270722	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.06)	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.Phe84Tyr,ENST00000441472,;PRDM16,missense_variant,p.Phe84Tyr,ENST00000270722,;PRDM16,missense_variant,p.Phe84Tyr,ENST00000514189,;PRDM16,missense_variant,p.Phe84Tyr,ENST00000442529,;PRDM16,missense_variant,p.Phe84Tyr,ENST00000378398,;PRDM16,missense_variant,p.Phe84Tyr,ENST00000511072,;PRDM16,missense_variant,p.Phe84Tyr,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000607632,;	300	177	112	SUCCESS
COL16A1	1307	.	GRCh37	1	32124125	32124125	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	66	0	ENST00000373672.3:c.3984A>C	p.Pro1328=	p.P1328=	ENST00000373672	NM_001856.3	1328	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41297.1	3984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTGGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	64/71	.	.	.	.	.	.	.	.	.	64/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,synonymous_variant,p.%3D,ENST00000271069,;COL16A1,synonymous_variant,p.%3D,ENST00000373672,;COL16A1,synonymous_variant,p.%3D,ENST00000440437,;RP11-73M7.6,intron_variant,,ENST00000589462,;RP11-73M7.6,intron_variant,,ENST00000588288,;RP11-73M7.6,intron_variant,,ENST00000609338,;RP11-73M7.6,intron_variant,,ENST00000609373,;RP11-73M7.6,intron_variant,,ENST00000593188,;RP11-73M7.6,intron_variant,,ENST00000609625,;RP11-73M7.6,intron_variant,,ENST00000609033,;RP11-73M7.6,intron_variant,,ENST00000585413,;RP11-73M7.6,intron_variant,,ENST00000587445,;RP11-73M7.6,intron_variant,,ENST00000610216,;RP11-73M7.6,intron_variant,,ENST00000445166,;RP11-73M7.6,intron_variant,,ENST00000608332,;RP11-73M7.6,intron_variant,,ENST00000609549,;RP11-73M7.6,intron_variant,,ENST00000607926,;RP11-73M7.6,intron_variant,,ENST00000610043,;RP11-73M7.6,intron_variant,,ENST00000608246,;RP11-73M7.6,intron_variant,,ENST00000585660,;RP11-73M7.6,intron_variant,,ENST00000608888,;RP11-73M7.6,intron_variant,,ENST00000591592,;RP11-73M7.6,intron_variant,,ENST00000591929,;COL16A1,upstream_gene_variant,,ENST00000461217,;COL16A1,downstream_gene_variant,,ENST00000466829,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,;COL16A1,downstream_gene_variant,,ENST00000482910,;COL16A1,downstream_gene_variant,,ENST00000470799,;	4501	66	44	SUCCESS
COL16A1	1307	.	GRCh37	1	32161363	32161363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	119	0	ENST00000373672.3:c.944A>T	p.Glu315Val	p.E315V	ENST00000373672	NM_001856.3	315	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS41297.1	944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTCATCG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	10/71	.	.	.	.	.	.	.	.	.	10/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,missense_variant,p.Glu315Val,ENST00000373672,;COL16A1,missense_variant,p.Glu43Val,ENST00000373667,;COL16A1,missense_variant,p.Glu315Val,ENST00000373668,;COL16A1,missense_variant,p.Glu315Val,ENST00000271069,;COL16A1,downstream_gene_variant,,ENST00000532877,;	1461	119	75	SUCCESS
LCK	3932	.	GRCh37	1	32742349	32742349	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	28	56	0	ENST00000336890.5:c.926A>T	p.Gln309Leu	p.Q309L	ENST00000336890	NM_005356.3	309	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS359.1	926	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAGGAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000337825	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000336890	Transcript	.	.	ENSG00000182866	6524	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.171)	.	deleterious(0)	.	LCK_HUMAN	LCK	HGNC	F8W6B9_HUMAN,B3KUV3_HUMAN	.	UPI0000151F17	SNV	LCK,missense_variant,p.Gln258Leu,ENST00000495610,;LCK,missense_variant,p.Gln309Leu,ENST00000333070,;LCK,missense_variant,p.Gln309Leu,ENST00000336890,;LCK,missense_variant,p.Gln316Leu,ENST00000373564,;LCK,downstream_gene_variant,,ENST00000373562,;LCK,downstream_gene_variant,,ENST00000373557,;LCK,downstream_gene_variant,,ENST00000477031,;LCK,downstream_gene_variant,,ENST00000461712,;LCK,downstream_gene_variant,,ENST00000482949,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000469956,;LCK,downstream_gene_variant,,ENST00000476457,;LCK,downstream_gene_variant,,ENST00000355928,;	1064	56	41	SUCCESS
PRDM16	63976	.	GRCh37	1	3319469	3319469	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	84	199	0	ENST00000270722.5:c.791T>A	p.Leu264Gln	p.L264Q	ENST00000270722		264	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS41236.2	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGGCTG	NONE	.	.	hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393	.	.	ENSP00000270722	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000270722	Transcript	.	.	ENSG00000142611	14000	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.02)	.	PRD16_HUMAN	PRDM16	HGNC	.	.	UPI0000458A29	SNV	PRDM16,missense_variant,p.Leu264Gln,ENST00000441472,;PRDM16,missense_variant,p.Leu265Gln,ENST00000514189,;PRDM16,missense_variant,p.Leu73Gln,ENST00000509860,;PRDM16,missense_variant,p.Leu264Gln,ENST00000270722,;PRDM16,missense_variant,p.Leu264Gln,ENST00000442529,;PRDM16,missense_variant,p.Leu265Gln,ENST00000511072,;PRDM16,missense_variant,p.Leu265Gln,ENST00000378398,;PRDM16,missense_variant,p.Leu264Gln,ENST00000378391,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	840	199	155	SUCCESS
ADC	0	.	GRCh37	1	33557811	33557811	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	198	0	ENST00000294517.6:c.440A>T	p.His147Leu	p.H147L	ENST00000294517	NM_052998.2	147	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS375.1	440	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCACCCCA	NONE	.	.	Prints_domain:PR01182,Superfamily_domains:SSF51419,Gene3D:3.20.20.10,Pfam_domain:PF02784,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF4	.	.	ENSP00000294517	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000294517	Transcript	.	.	ENSG00000142920	29957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0)	.	ADC_HUMAN	ADC	HGNC	D3DPR0_HUMAN,B3KV62_HUMAN	.	UPI0000047152	SNV	ADC,missense_variant,p.His147Leu,ENST00000373443,;ADC,missense_variant,p.His147Leu,ENST00000294517,;ADC,missense_variant,p.His147Leu,ENST00000373441,;ADC,missense_variant,p.His147Leu,ENST00000398167,;ADC,intron_variant,,ENST00000373440,;ADC,intron_variant,,ENST00000358680,;ADC,non_coding_transcript_exon_variant,,ENST00000484656,;ADC,non_coding_transcript_exon_variant,,ENST00000497710,;ADC,non_coding_transcript_exon_variant,,ENST00000475935,;ADC,non_coding_transcript_exon_variant,,ENST00000483027,;ADC,non_coding_transcript_exon_variant,,ENST00000492420,;ADC,non_coding_transcript_exon_variant,,ENST00000478635,;ADC,non_coding_transcript_exon_variant,,ENST00000481886,;ADC,non_coding_transcript_exon_variant,,ENST00000471119,;ADC,non_coding_transcript_exon_variant,,ENST00000478204,;ADC,non_coding_transcript_exon_variant,,ENST00000462920,;ADC,non_coding_transcript_exon_variant,,ENST00000477570,;ADC,intron_variant,,ENST00000473089,;ADC,upstream_gene_variant,,ENST00000492521,;ADC,upstream_gene_variant,,ENST00000497280,;	1027	198	145	SUCCESS
PHC2	1912	.	GRCh37	1	33836103	33836103	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	52	0	ENST00000257118.5:c.495T>A	p.Ala165=	p.A165=	ENST00000257118	NM_198040.2	165	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS378.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGAGCGAT	NONE	.	.	hmmpanther:PTHR12247:SF71,hmmpanther:PTHR12247	.	.	ENSP00000257118	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000257118	Transcript	.	.	ENSG00000134686	3183	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHC2_HUMAN	PHC2	HGNC	.	.	UPI0000074391	SNV	PHC2,synonymous_variant,p.%3D,ENST00000431992,;PHC2,synonymous_variant,p.%3D,ENST00000419414,;PHC2,synonymous_variant,p.%3D,ENST00000257118,;PHC2,5_prime_UTR_variant,,ENST00000373416,;PHC2,non_coding_transcript_exon_variant,,ENST00000468406,;PHC2,downstream_gene_variant,,ENST00000484692,;	549	52	48	SUCCESS
CSMD2	114784	.	GRCh37	1	34123600	34123600	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	24	78	0	ENST00000241312.4:c.4273T>A	p.Cys1425Ser	p.C1425S	ENST00000241312		1425	Tgt/Agt	0	.	.	.	.	.	T	C/S	nonsense_mediated_decay	YES	CCDS380.1	4273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACAGCTGA	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	27/70	.	.	.	.	.	.	.	.	.	27/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Cys1465Ser,ENST00000373381,;CSMD2,missense_variant,p.Cys338Ser,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,missense_variant,p.Cys1425Ser,ENST00000241312,;	4302	78	49	SUCCESS
CSMD2	114784	.	GRCh37	1	34128580	34128580	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	50	123	0	ENST00000241312.4:c.4045A>T	p.Lys1349Ter	p.K1349*	ENST00000241312		1349	Aag/Tag	0	.	.	.	.	.	A	K/*	nonsense_mediated_decay	YES	CCDS380.1	4045	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTTGGGCA	NONE	.	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	26/70	.	.	.	.	.	.	.	.	.	26/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,stop_gained,p.Lys1389Ter,ENST00000373381,;CSMD2,stop_gained,p.Lys262Ter,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,stop_gained,p.Lys1349Ter,ENST00000241312,;	4074	123	88	SUCCESS
CSMD2	114784	.	GRCh37	1	34190207	34190207	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	127	0	ENST00000241312.4:c.2674A>T	p.Ser892Cys	p.S892C	ENST00000241312		892	Agc/Tgc	0	.	.	.	.	.	A	S/C	nonsense_mediated_decay	YES	CCDS380.1	2674	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCTGAAGG	NONE	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	18/70	.	.	.	.	.	.	.	.	.	18/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0)	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Ser932Cys,ENST00000373381,;CSMD2,missense_variant,p.Ser892Cys,ENST00000241312,;	2703	127	97	SUCCESS
C1orf94	84970	.	GRCh37	1	34643341	34643341	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	30	0	ENST00000488417.1:c.-50A>T		p.*17*	ENST00000488417	NM_001134734.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44108.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACAGAACT	NONE	.	.	.	.	.	ENSP00000435634	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,5_prime_UTR_variant,,ENST00000488417,;C1orf94,intron_variant,,ENST00000373374,;AC115286.1,upstream_gene_variant,,ENST00000408126,;	71	30	16	SUCCESS
C1orf94	84970	.	GRCh37	1	34662932	34662932	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	103	1	ENST00000488417.1:c.427G>T	p.Glu143Ter	p.E143*	ENST00000488417	NM_001134734.1	143	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS44108.1	427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAGCTG	NONE	.	.	.	.	.	ENSP00000435634	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000488417	Transcript	.	.	ENSG00000142698	28250	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA094_HUMAN	C1orf94	HGNC	.	.	UPI0000D4BFB0	SNV	C1orf94,stop_gained,p.Glu143Ter,ENST00000488417,;C1orf94,5_prime_UTR_variant,,ENST00000373374,;	547	104	67	SUCCESS
GJB5	2709	.	GRCh37	1	35223306	35223306	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	31	77	1	ENST00000338513.1:c.375T>A	p.Gly125=	p.G125=	ENST00000338513	NM_005268.3	125	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS382.1	375	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGTGGGCT	NONE	.	.	hmmpanther:PTHR11984:SF28,hmmpanther:PTHR11984,Gene3D:2zw3A00	.	.	ENSP00000340811	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000338513	Transcript	.	.	ENSG00000189280	4287	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CXB5_HUMAN	GJB5	HGNC	.	.	UPI0000051E62	SNV	GJB5,synonymous_variant,p.%3D,ENST00000338513,;GJB4,upstream_gene_variant,,ENST00000339480,;RP1-34M23.5,downstream_gene_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	548	79	58	SUCCESS
GJA4	2701	.	GRCh37	1	35259856	35259856	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	79	0	ENST00000342280.4:c.42C>A	p.Val14=	p.V14=	ENST00000342280	NM_002060.2	14	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS30669.1	42	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCAGGA	NONE	.	.	Pfam_domain:PF00029,Gene3D:2zw3A00,hmmpanther:PTHR11984:SF54,hmmpanther:PTHR11984	.	.	ENSP00000343676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342280	Transcript	.	.	ENSG00000187513	4278	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA4_HUMAN	GJA4	HGNC	Q5JW71_HUMAN	.	UPI000013E8EF	SNV	GJA4,synonymous_variant,p.%3D,ENST00000450137,;GJA4,synonymous_variant,p.%3D,ENST00000342280,;SMIM12,intron_variant,,ENST00000426886,;	130	79	72	SUCCESS
AGO1	26523	.	GRCh37	1	36383941	36383941	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	44	130	0	ENST00000373204.4:c.2182A>G	p.Ile728Val	p.I728V	ENST00000373204	NM_012199.2	728	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS398.1	2182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACATCCCA	NONE	.	.	PROSITE_profiles:PS50822,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF17,Pfam_domain:PF02171,Gene3D:3.30.420.10,SMART_domains:SM00950,Superfamily_domains:SSF53098	.	.	ENSP00000362300	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000373204	Transcript	.	.	ENSG00000092847	3262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.21)	.	AGO1_HUMAN	AGO1	HGNC	Q5TA58_HUMAN	.	UPI000012D07D	SNV	AGO1,missense_variant,p.Ile728Val,ENST00000373204,;AGO1,missense_variant,p.Ile653Val,ENST00000373206,;	2395	130	101	SUCCESS
TEKT2	27285	.	GRCh37	1	36551473	36551473	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	143	0	ENST00000207457.3:c.319A>T	p.Asn107Tyr	p.N107Y	ENST00000207457	NM_014466.2	107	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS401.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGAACCTG	NONE	.	.	Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF7	.	.	ENSP00000207457	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000207457	Transcript	.	.	ENSG00000092850	11725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0.01)	.	TEKT2_HUMAN	TEKT2	HGNC	.	.	UPI0000001C3D	SNV	TEKT2,missense_variant,p.Asn107Tyr,ENST00000207457,;ADPRHL2,upstream_gene_variant,,ENST00000373178,;TEKT2,upstream_gene_variant,,ENST00000473120,;RP4-665N4.4,upstream_gene_variant,,ENST00000446354,;TEKT2,3_prime_UTR_variant,,ENST00000469024,;RP4-665N4.4,upstream_gene_variant,,ENST00000437804,;	446	143	100	SUCCESS
TRAPPC3	27095	.	GRCh37	1	36605744	36605744	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	10	186	0	ENST00000373166.3:c.66C>G	p.Thr22=	p.T22=	ENST00000373166	NM_014408.4	22	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS404.1	66	MUTECT|MUSE	.	CCATAGGTCAG	NONE	.	.	hmmpanther:PTHR13048,hmmpanther:PTHR13048:SF2,Gene3D:3.30.1380.20,Pfam_domain:PF04051,PIRSF_domain:PIRSF018293,Superfamily_domains:SSF111126	.	.	ENSP00000362261	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000373166	Transcript	.	.	ENSG00000054116	19942	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPPC3_HUMAN	TRAPPC3	HGNC	.	.	UPI0000052E1F	SNV	TRAPPC3,synonymous_variant,p.%3D,ENST00000373166,;TRAPPC3,synonymous_variant,p.%3D,ENST00000373159,;TRAPPC3,5_prime_UTR_variant,,ENST00000373163,;TRAPPC3,5_prime_UTR_variant,,ENST00000373162,;TRAPPC3,non_coding_transcript_exon_variant,,ENST00000462715,;TRAPPC3,non_coding_transcript_exon_variant,,ENST00000497251,;TRAPPC3,intron_variant,,ENST00000469757,;	157	186	150	SUCCESS
CCDC27	148870	.	GRCh37	1	3680278	3680278	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	138	21	253	0	ENST00000294600.2:c.1330G>T	p.Ala444Ser	p.A444S	ENST00000294600	NM_152492.2	444	Gcg/Tcg	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS50.1	1330	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTGCGTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6	.	.	ENSP00000294600	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000294600	Transcript	.	.	ENSG00000162592	26546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	tolerated(0.12)	.	CCD27_HUMAN	CCDC27	HGNC	.	.	UPI000013E186	SNV	CCDC27,missense_variant,p.Ala444Ser,ENST00000294600,;CCDC27,3_prime_UTR_variant,,ENST00000462521,;	1414	253	159	SUCCESS
CCDC27	148870	.	GRCh37	1	3683112	3683112	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767384697	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	8	109	0	ENST00000294600.2:c.1466G>A	p.Arg489Gln	p.R489Q	ENST00000294600	NM_152492.2	489	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS50.1	1466	MUTECT|MUSE|VARSCANS	.	CCTCCGAGAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6	.	.	ENSP00000294600	.	9/12	.	.	.	.	.	.	.	.	rs767384697,COSM3489073	9/12	PASS	ENST00000294600	Transcript	.	.	ENSG00000162592	26546	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	probably_damaging(0.987)	.	deleterious(0)	0,1	CCD27_HUMAN	CCDC27	HGNC	.	.	UPI000013E186	SNV	CCDC27,missense_variant,p.Arg489Gln,ENST00000294600,;CCDC27,3_prime_UTR_variant,,ENST00000462521,;	1550	110	97	SUCCESS
MTF1	4520	.	GRCh37	1	38288109	38288109	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	75	0	ENST00000373036.4:c.1451A>G	p.Glu484Gly	p.E484G	ENST00000373036	NM_005955.2	484	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS30676.1	1451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTCTTGA	NONE	.	.	hmmpanther:PTHR11389:SF347,hmmpanther:PTHR11389	.	.	ENSP00000362127	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000373036	Transcript	.	.	ENSG00000188786	7428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.325)	.	tolerated(0.18)	.	MTF1_HUMAN	MTF1	HGNC	O14945_HUMAN	.	UPI000006E9B3	SNV	MTF1,missense_variant,p.Glu484Gly,ENST00000373036,;AL929472.1,downstream_gene_variant,,ENST00000448796,;	1592	75	52	SUCCESS
COL9A2	1298	.	GRCh37	1	40769263	40769263	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	30	0	ENST00000372748.3:c.1487G>A	p.Gly496Asp	p.G496D	ENST00000372748	NM_001852.3	496	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS450.1	1487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCCGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021,Pfam_domain:PF01391	.	.	ENSP00000361834	.	28/32	.	.	.	.	.	.	.	.	COSM394221	28/32	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.739)	.	deleterious(0)	1	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	SNV	COL9A2,missense_variant,p.Ala100Thr,ENST00000427563,;COL9A2,missense_variant,p.Gly496Asp,ENST00000372748,;COL9A2,non_coding_transcript_exon_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;	1584	30	39	SUCCESS
COL9A2	1298	.	GRCh37	1	40777173	40777173	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs1396260028	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	54	0	ENST00000372748.3:c.518T>C	p.Leu173Pro	p.L173P	ENST00000372748	NM_001852.3	173	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS450.1	518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCAGGAAA	NONE	.	.	hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021	.	.	ENSP00000361834	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.766)	.	deleterious(0.03)	.	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	SNV	COL9A2,missense_variant,p.Leu162Pro,ENST00000417105,;COL9A2,missense_variant,p.Leu173Pro,ENST00000372748,;COL9A2,downstream_gene_variant,,ENST00000372736,;COL9A2,downstream_gene_variant,,ENST00000490132,;COL9A2,downstream_gene_variant,,ENST00000495948,;COL9A2,splice_region_variant,,ENST00000488463,;COL9A2,splice_region_variant,,ENST00000482722,;COL9A2,non_coding_transcript_exon_variant,,ENST00000496215,;COL9A2,downstream_gene_variant,,ENST00000461118,;	615	54	41	SUCCESS
COL9A2	1298	.	GRCh37	1	40777786	40777786	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	83	0	ENST00000372748.3:c.364-2A>T		p.X122_splice	ENST00000372748	NM_001852.3	122		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS450.1	.	RADIA|MUTECT|MUSE	.	GCCCCTGGGGA	NONE	.	.	.	.	.	ENSP00000361834	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	HIGH	7/31	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	SNV	COL9A2,splice_acceptor_variant,,ENST00000417105,;COL9A2,splice_acceptor_variant,,ENST00000372736,;COL9A2,splice_acceptor_variant,,ENST00000372748,;COL9A2,downstream_gene_variant,,ENST00000490132,;COL9A2,downstream_gene_variant,,ENST00000495948,;COL9A2,splice_acceptor_variant,,ENST00000488463,;COL9A2,splice_acceptor_variant,,ENST00000496215,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000461118,;	.	83	56	SUCCESS
HIVEP3	59269	.	GRCh37	1	41990547	41990547	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs748302850	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	106	0	ENST00000247584.5:c.5242G>A	p.Gly1748Ser	p.G1748S	ENST00000247584		1748	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS463.1	5242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCTCGCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50	.	.	ENSP00000361664	.	6/9	.	.	.	.	.	.	.	.	rs748302850	6/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,missense_variant,p.Gly1748Ser,ENST00000429157,;HIVEP3,missense_variant,p.Gly1748Ser,ENST00000372584,;HIVEP3,missense_variant,p.Gly1748Ser,ENST00000247584,;HIVEP3,missense_variant,p.Gly1748Ser,ENST00000372583,;HIVEP3,intron_variant,,ENST00000460604,;	6128	106	84	SUCCESS
SZT2	23334	.	GRCh37	1	43907744	43907744	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs754730352	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	8	92	0	ENST00000562955.1:c.7645C>T	p.Arg2549Trp	p.R2549W	ENST00000562955	NM_015284.3	2549	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS30694.2	7645	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCGGCAT	NONE	byFrequency	.	hmmpanther:PTHR14918	.	.	ENSP00000457168	.	55/71	.	.	.	.	.	.	.	.	rs754730352,COSM909829,COSM909828,COSM1584579	55/71	PASS	ENST00000562955	Transcript	.	.	ENSG00000198198	29040	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1,1	SZT2_HUMAN	SZT2	HGNC	.	.	UPI0001E24F46	SNV	SZT2,missense_variant,p.Arg1707Trp,ENST00000372442,;SZT2,missense_variant,p.Arg2549Trp,ENST00000562955,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,downstream_gene_variant,,ENST00000470897,;SZT2,upstream_gene_variant,,ENST00000460536,;	7645	92	74	SUCCESS
SZT2	23334	.	GRCh37	1	43908181	43908181	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	61	0	ENST00000562955.1:c.7872G>T	p.Leu2624=	p.L2624=	ENST00000562955	NM_015284.3	2624	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS30694.2	7872	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTGGTGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14918	.	.	ENSP00000457168	.	57/71	.	.	.	.	.	.	.	.	.	57/71	PASS	ENST00000562955	Transcript	.	.	ENSG00000198198	29040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SZT2_HUMAN	SZT2	HGNC	.	.	UPI0001E24F46	SNV	SZT2,synonymous_variant,p.%3D,ENST00000372442,;SZT2,synonymous_variant,p.%3D,ENST00000562955,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,downstream_gene_variant,,ENST00000470897,;SZT2,upstream_gene_variant,,ENST00000460536,;	7872	61	61	SUCCESS
ERI3	79033	.	GRCh37	1	44713653	44713653	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	65	0	ENST00000372257.2:c.889G>T	p.Gly297Cys	p.G297C	ENST00000372257	NM_024066.1	297	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS30696.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCTTGT	NONE	.	.	hmmpanther:PTHR23044:SF29,hmmpanther:PTHR23044,Pfam_domain:PF00929,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000361331	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000372257	Transcript	.	.	ENSG00000117419	17276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	tolerated(0.14)	.	ERI3_HUMAN	ERI3	HGNC	B4DN03_HUMAN,B4DEX5_HUMAN	.	UPI00001C1D9B	SNV	ERI3,missense_variant,p.Gly182Cys,ENST00000372259,;ERI3,missense_variant,p.Gly120Cys,ENST00000537474,;ERI3,missense_variant,p.Gly164Cys,ENST00000456170,;ERI3,missense_variant,p.Gly297Cys,ENST00000372257,;ERI3,downstream_gene_variant,,ENST00000452396,;ERI3-IT1,upstream_gene_variant,,ENST00000414156,;ERI3,non_coding_transcript_exon_variant,,ENST00000479101,;ERI3,non_coding_transcript_exon_variant,,ENST00000462341,;ERI3,upstream_gene_variant,,ENST00000489710,;	1071	65	57	SUCCESS
STIL	6491	.	GRCh37	1	47717102	47717102	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	42	93	0	ENST00000360380.3:c.3570A>G	p.Ala1190=	p.A1190=	ENST00000360380	NM_001282936.1	1190	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS41329.1	3573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTGCGTT	NONE	.	.	hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0	.	.	ENSP00000360944	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000371877	Transcript	.	.	ENSG00000123473	10879	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STIL_HUMAN	STIL	HGNC	.	.	UPI00002042D5	SNV	STIL,synonymous_variant,p.%3D,ENST00000337817,;STIL,synonymous_variant,p.%3D,ENST00000396221,;STIL,synonymous_variant,p.%3D,ENST00000371877,;STIL,synonymous_variant,p.%3D,ENST00000360380,;STIL,synonymous_variant,p.%3D,ENST00000243182,;	3721	93	82	SUCCESS
SPATA6	54558	.	GRCh37	1	48764441	48764441	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs374515413	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	102	0	ENST00000371847.3:c.1411A>T	p.Arg471Trp	p.R471W	ENST00000371847	NM_019073.2	471	Agg/Tgg	0	C:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS551.1	1411	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTGTACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR16435:SF3,hmmpanther:PTHR16435	.	C:0.0001	ENSP00000360913	.	13/13	.	.	.	.	.	.	.	.	rs374515413	13/13	PASS	ENST00000371847	Transcript	.	.	ENSG00000132122	18309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SPAT6_HUMAN	SPATA6	HGNC	.	.	UPI0000049C41	SNV	SPATA6,missense_variant,p.Arg399Trp,ENST00000396199,;SPATA6,missense_variant,p.Arg455Trp,ENST00000371843,;SPATA6,missense_variant,p.Arg471Trp,ENST00000371847,;SPATA6,3_prime_UTR_variant,,ENST00000603831,;	1576	102	75	SUCCESS
EPS15	2060	.	GRCh37	1	51864724	51864724	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	48	0	ENST00000371733.3:c.2032A>G	p.Asn678Asp	p.N678D	ENST00000371733	NM_001981.2	678	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS557.1	2032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTTGGCTG	NONE	.	.	hmmpanther:PTHR11216:SF54,hmmpanther:PTHR11216	.	.	ENSP00000360798	.	20/25	.	.	.	.	.	.	.	.	.	20/25	PASS	ENST00000371733	Transcript	.	.	ENSG00000085832	3419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.25)	.	EPS15_HUMAN	EPS15	HGNC	.	.	UPI0000161B29	SNV	EPS15,missense_variant,p.Asn544Asp,ENST00000371730,;EPS15,missense_variant,p.Asn678Asp,ENST00000371733,;EPS15,missense_variant,p.Asn355Asp,ENST00000396122,;EPS15,downstream_gene_variant,,ENST00000493793,;EPS15,non_coding_transcript_exon_variant,,ENST00000478657,;EPS15,non_coding_transcript_exon_variant,,ENST00000486505,;	2129	48	44	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55119680	55119680	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	51	114	0	ENST00000414150.2:c.1081A>T	p.Lys361Ter	p.K361*	ENST00000414150		361	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS41342.2	1081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCAAGGAC	NONE	.	.	.	.	.	ENSP00000396622	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,stop_gained,p.Lys361Ter,ENST00000395690,;MROH7,stop_gained,p.Lys361Ter,ENST00000421030,;MROH7,stop_gained,p.Lys361Ter,ENST00000339553,;MROH7,intron_variant,,ENST00000454855,;MROH7,intron_variant,,ENST00000409996,;MROH7,intron_variant,,ENST00000545244,;MROH7,non_coding_transcript_exon_variant,,ENST00000472987,;MROH7,intron_variant,,ENST00000478097,;MROH7-TTC4,stop_gained,p.Lys361Ter,ENST00000414150,;MROH7,stop_gained,p.Lys361Ter,ENST00000438846,;MROH7,stop_gained,p.Lys361Ter,ENST00000413188,;MROH7-TTC4,stop_gained,p.Lys361Ter,ENST00000425300,;MROH7,stop_gained,p.Lys361Ter,ENST00000422659,;MROH7,stop_gained,p.Lys361Ter,ENST00000440047,;MROH7-TTC4,stop_gained,p.Lys361Ter,ENST00000606515,;MROH7,upstream_gene_variant,,ENST00000440217,;	1366	114	90	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55174688	55174688	+	splice_region_variant,synonymous_variant,NMD_transcript_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	25	70	0	ENST00000414150.2:c.3669G>A		p.X1223_splice	ENST00000414150		1223	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41342.2	3669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGGTCCCT	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000396622	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,synonymous_variant,p.%3D,ENST00000454855,;MROH7,synonymous_variant,p.%3D,ENST00000409996,;MROH7,synonymous_variant,p.%3D,ENST00000421030,;MROH7-TTC4,synonymous_variant,p.%3D,ENST00000414150,;MROH7,splice_region_variant,,ENST00000440217,;MROH7,splice_region_variant,,ENST00000371287,;MROH7,splice_region_variant,,ENST00000413188,;MROH7-TTC4,splice_region_variant,,ENST00000460155,;MROH7,splice_region_variant,,ENST00000440047,;MROH7,splice_region_variant,,ENST00000422659,;MROH7-TTC4,splice_region_variant,,ENST00000606515,;MROH7-TTC4,intron_variant,,ENST00000425300,;	3954	70	40	SUCCESS
NPHP4	261734	.	GRCh37	1	5967225	5967225	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	47	136	0	ENST00000378156.4:c.1561A>T	p.Arg521Trp	p.R521W	ENST00000378156	NM_015102.3	521	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44052.1	1561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTGGCCA	NONE	.	.	hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	.	.	ENSP00000367398	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000378156	Transcript	.	.	ENSG00000131697	19104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0)	.	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,missense_variant,p.Arg521Trp,ENST00000378156,;NPHP4,intron_variant,,ENST00000478423,;NPHP4,missense_variant,p.Arg521Trp,ENST00000489180,;NPHP4,intron_variant,,ENST00000378169,;NPHP4,upstream_gene_variant,,ENST00000466897,;	1827	136	93	SUCCESS
INADL	0	.	GRCh37	1	62456026	62456026	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	75	0	ENST00000371158.2:c.3857A>T	p.Glu1286Val	p.E1286V	ENST00000371158	NM_176877.2	1286	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS617.2	3857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGAACTCT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000360200	.	28/43	.	.	.	.	.	.	.	.	.	28/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,missense_variant,p.Glu1286Val,ENST00000371158,;INADL,missense_variant,p.Glu1286Val,ENST00000316485,;INADL,missense_variant,p.Glu70Val,ENST00000543708,;INADL,missense_variant,p.Glu70Val,ENST00000307297,;INADL,5_prime_UTR_variant,,ENST00000545929,;INADL,non_coding_transcript_exon_variant,,ENST00000490547,;INADL,non_coding_transcript_exon_variant,,ENST00000494842,;INADL,missense_variant,p.Glu745Val,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	3971	75	88	SUCCESS
KANK4	163782	.	GRCh37	1	62733992	62733992	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	65	0	ENST00000371153.4:c.2198C>T	p.Pro733Leu	p.P733L	ENST00000371153	NM_181712.4	733	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS620.1	2198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGGCCCA	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20	.	.	ENSP00000360195	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000371153	Transcript	.	.	ENSG00000132854	27263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.13)	.	KANK4_HUMAN	KANK4	HGNC	B1ALP6_HUMAN,B1ALP5_HUMAN	.	UPI000022AE73	SNV	KANK4,missense_variant,p.Pro89Leu,ENST00000371150,;KANK4,missense_variant,p.Pro105Leu,ENST00000354381,;KANK4,missense_variant,p.Pro733Leu,ENST00000371153,;KANK4,upstream_gene_variant,,ENST00000317477,;	2577	65	49	SUCCESS
CACHD1	57685	.	GRCh37	1	65142576	65142576	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	84	186	0	ENST00000290039.5:c.2823-2A>G		p.X941_splice	ENST00000290039	NM_020925.2	941		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS628.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACAGAAAC	NONE	.	.	.	.	.	ENSP00000290039	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000290039	Transcript	.	.	ENSG00000158966	29314	.	.	HIGH	21/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CACHD1	HGNC	.	.	UPI0000458A70	SNV	CACHD1,splice_acceptor_variant,,ENST00000290039,;CACHD1,splice_acceptor_variant,,ENST00000371073,;CACHD1,splice_acceptor_variant,,ENST00000495994,;CACHD1,splice_acceptor_variant,,ENST00000470527,;	.	186	190	SUCCESS
DNAJC6	9829	.	GRCh37	1	65852603	65852603	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	113	0	ENST00000395325.3:c.933A>G	p.Leu311=	p.L311=	ENST00000395325	NM_014787.3	311	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS58004.1	1104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCTACAGGC	NONE	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,Pfam_domain:PF10409,Gene3D:1d5rA02,Superfamily_domains:SSF49562	.	.	ENSP00000360108	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,synonymous_variant,p.%3D,ENST00000371069,;DNAJC6,synonymous_variant,p.%3D,ENST00000395325,;DNAJC6,synonymous_variant,p.%3D,ENST00000263441,;DNAJC6,synonymous_variant,p.%3D,ENST00000494710,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000498720,;	1305	113	109	SUCCESS
TAS1R1	80835	.	GRCh37	1	6639185	6639185	+	synonymous_variant	Silent	SNP	C	C	T	rs1401007336	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	57	103	0	ENST00000333172.6:c.2067C>T	p.Ala689=	p.A689=	ENST00000333172	NM_138697.3	689	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS81.1	2067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCCAGCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00248,Pfam_domain:PF00003,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421,PROSITE_profiles:PS50259	.	.	ENSP00000331867	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000333172	Transcript	.	.	ENSG00000173662	14448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TS1R1_HUMAN	TAS1R1	HGNC	.	.	UPI000004737B	SNV	TAS1R1,synonymous_variant,p.%3D,ENST00000351136,;TAS1R1,synonymous_variant,p.%3D,ENST00000333172,;TAS1R1,3_prime_UTR_variant,,ENST00000328191,;TAS1R1,3_prime_UTR_variant,,ENST00000411823,;TAS1R1,intron_variant,,ENST00000415267,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;ZBTB48,upstream_gene_variant,,ENST00000377674,;ZBTB48,upstream_gene_variant,,ENST00000319084,;	2260	104	85	SUCCESS
SGIP1	84251	.	GRCh37	1	67148048	67148048	+	synonymous_variant	Silent	SNP	C	C	T	rs748329871	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	58	153	0	ENST00000371037.4:c.1311C>T	p.Thr437=	p.T437=	ENST00000371037	NM_032291.2	437	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS30744.1	1311	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCAGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23065:SF5,hmmpanther:PTHR23065	.	.	ENSP00000360076	.	15/25	.	.	.	.	.	.	.	.	rs748329871	15/25	PASS	ENST00000371037	Transcript	.	.	ENSG00000118473	25412	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGIP1_HUMAN	SGIP1	HGNC	.	.	UPI000045891B	SNV	SGIP1,synonymous_variant,p.%3D,ENST00000237247,;SGIP1,synonymous_variant,p.%3D,ENST00000371037,;SGIP1,intron_variant,,ENST00000371039,;SGIP1,intron_variant,,ENST00000371036,;SGIP1,intron_variant,,ENST00000371035,;SGIP1,downstream_gene_variant,,ENST00000424320,;SGIP1,non_coding_transcript_exon_variant,,ENST00000487507,;SGIP1,intron_variant,,ENST00000480548,;	1388	154	152	SUCCESS
IL23R	149233	.	GRCh37	1	67666515	67666515	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	94	183	0	ENST00000347310.5:c.587T>A	p.Val196Asp	p.V196D	ENST00000347310	NM_144701.2	196	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS637.1	587	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGTCCAAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF88,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000321345	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000347310	Transcript	.	.	ENSG00000162594	19100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0)	.	IL23R_HUMAN	IL23R	HGNC	D9N2T9_HUMAN,B6HY80_HUMAN	.	UPI000004CACD	SNV	IL23R,missense_variant,p.Val196Asp,ENST00000347310,;IL23R,missense_variant,p.Val196Asp,ENST00000371002,;C1orf141,intron_variant,,ENST00000371007,;C1orf141,intron_variant,,ENST00000448166,;RNU6-586P,downstream_gene_variant,,ENST00000517265,;	758	183	184	SUCCESS
WLS	79971	.	GRCh37	1	68659912	68659912	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	43	0	ENST00000262348.4:c.107-2A>T		p.X36_splice	ENST00000262348	NM_024911.6	36		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30750.1	.	MUTECT|MUSE	.	GGAGCTGAAAA	NONE	.	.	.	.	.	ENSP00000346829	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354777	Transcript	.	.	ENSG00000116729	30238	.	.	LOW	1/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WLS_HUMAN	WLS	HGNC	E9PQK1_HUMAN,E9PM62_HUMAN,E9PKJ0_HUMAN,E9PJW4_HUMAN	.	UPI00003FE524	SNV	WLS,splice_acceptor_variant,,ENST00000370971,;WLS,splice_acceptor_variant,,ENST00000471243,;WLS,splice_acceptor_variant,,ENST00000540432,;WLS,splice_acceptor_variant,,ENST00000262348,;WLS,splice_acceptor_variant,,ENST00000530486,;WLS,splice_region_variant,,ENST00000354777,;WLS,intron_variant,,ENST00000533537,;WLS,intron_variant,,ENST00000534713,;WLS,intron_variant,,ENST00000370973,;WLS,intron_variant,,ENST00000370976,;GNG12-AS1,intron_variant,,ENST00000413628,;GNG12-AS1,intron_variant,,ENST00000420587,;WLS,splice_acceptor_variant,,ENST00000491076,;WLS,splice_acceptor_variant,,ENST00000527864,;	.	43	35	SUCCESS
LRRC7	57554	.	GRCh37	1	70502271	70502271	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	58	107	1	ENST00000035383.5:c.2138C>T	p.Ala713Val	p.A713V	ENST00000035383	NM_020794.2	713	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS645.1	2138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGCTAAAG	NONE	.	.	.	.	.	ENSP00000035383	.	18/25	.	.	.	.	.	.	.	.	COSM682266	18/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.09)	.	tolerated_low_confidence(0.15)	1	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Ala713Val,ENST00000035383,;LRRC7,missense_variant,p.Ala718Val,ENST00000310961,;LRRC7,intron_variant,,ENST00000415775,;	2168	108	126	SUCCESS
LRRC40	55631	.	GRCh37	1	70616864	70616864	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	89	230	0	ENST00000370952.3:c.1464A>C	p.Pro488=	p.P488=	ENST00000370952	NM_017768.4	488	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS646.1	1464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGGCAA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00364,SMART_domains:SM00365,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF00560,hmmpanther:PTHR23155:SF424,hmmpanther:PTHR23155,PROSITE_profiles:PS51450	.	.	ENSP00000359990	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000370952	Transcript	.	.	ENSG00000066557	26004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC40_HUMAN	LRRC40	HGNC	.	.	UPI000004A0A0	SNV	LRRC40,synonymous_variant,p.%3D,ENST00000370952,;LRRC7,intron_variant,,ENST00000441830,;LRRC7,downstream_gene_variant,,ENST00000609072,;LRRC7,downstream_gene_variant,,ENST00000588515,;LRRC7,downstream_gene_variant,,ENST00000608744,;LRRC7,downstream_gene_variant,,ENST00000607936,;	1544	230	219	SUCCESS
PTGER3	5733	.	GRCh37	1	71418661	71418661	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	48	0	ENST00000356595.4:c.1186A>C	p.Arg396=	p.R396=	ENST00000356595	NM_198718.1	396	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS655.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTGTTCA	NONE	.	.	hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF10	.	.	ENSP00000349003	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,synonymous_variant,p.%3D,ENST00000356595,;PTGER3,3_prime_UTR_variant,,ENST00000414819,;PTGER3,intron_variant,,ENST00000370932,;PTGER3,intron_variant,,ENST00000351052,;PTGER3,intron_variant,,ENST00000354608,;PTGER3,intron_variant,,ENST00000460330,;PTGER3,intron_variant,,ENST00000370931,;RP3-333A15.1,downstream_gene_variant,,ENST00000426775,;PTGER3,intron_variant,,ENST00000361210,;PTGER3,intron_variant,,ENST00000479353,;PTGER3,intron_variant,,ENST00000497146,;	1397	48	39	SUCCESS
C1orf173	0	.	GRCh37	1	75065565	75065565	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	50	111	0	ENST00000326665.5:c.1540A>G	p.Asn514Asp	p.N514D	ENST00000326665	NM_001002912.4	514	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS30755.1	1540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATTAGATT	NONE	.	.	hmmpanther:PTHR23034	.	.	ENSP00000322609	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000326665	Transcript	.	.	ENSG00000178965	25346	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	tolerated(0.08)	.	CA173_HUMAN	C1orf173	HGNC	.	.	UPI0000237200	SNV	C1orf173,missense_variant,p.Asn317Asp,ENST00000420661,;C1orf173,missense_variant,p.Asn514Asp,ENST00000326665,;RP4-612J11.1,intron_variant,,ENST00000416017,;	1759	111	103	SUCCESS
TYW3	127253	.	GRCh37	1	75229761	75229761	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	51	114	2	ENST00000370867.3:c.744A>G	p.Leu248=	p.L248=	ENST00000370867	NM_138467.2	248	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS666.1	744	SOMATICSNIPER|VARSCANS	.	GATCTAGGAAT	NONE	.	.	.	.	.	ENSP00000359904	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370867	Transcript	.	.	ENSG00000162623	24757	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TYW3_HUMAN	TYW3	HGNC	.	.	UPI000006EC9D	SNV	TYW3,synonymous_variant,p.%3D,ENST00000421739,;TYW3,synonymous_variant,p.%3D,ENST00000479111,;TYW3,synonymous_variant,p.%3D,ENST00000370867,;TYW3,synonymous_variant,p.%3D,ENST00000457880,;TYW3,non_coding_transcript_exon_variant,,ENST00000467646,;TYW3,downstream_gene_variant,,ENST00000485401,;TYW3,downstream_gene_variant,,ENST00000486467,;	833	116	121	SUCCESS
PTGFR	5737	.	GRCh37	1	78958355	78958355	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	17	0	ENST00000370757.3:c.-72-2A>T		p.X24_splice	ENST00000370757	NM_000959.3	24		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS686.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGATGT	NONE	.	.	.	.	.	ENSP00000359793	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370757	Transcript	.	.	ENSG00000122420	9600	.	.	HIGH	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PF2R_HUMAN	PTGFR	HGNC	.	.	UPI0000001C40	SNV	PTGFR,splice_acceptor_variant,,ENST00000370757,;PTGFR,splice_acceptor_variant,,ENST00000370756,;PTGFR,splice_acceptor_variant,,ENST00000370758,;PTGFR,splice_acceptor_variant,,ENST00000497923,;	.	17	17	SUCCESS
SLC45A1	50651	.	GRCh37	1	8390821	8390821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	88	0	ENST00000289877.8:c.1268A>T	p.Glu423Val	p.E423V	ENST00000289877	NM_001080397.1	423	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS30577.1	1268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGAGGGTG	NONE	.	.	hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF6	.	.	ENSP00000418096	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000471889	Transcript	.	.	ENSG00000162426	17939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.14)	.	S45A1_HUMAN	SLC45A1	HGNC	.	.	UPI000040EA42	SNV	SLC45A1,missense_variant,p.Glu423Val,ENST00000289877,;SLC45A1,missense_variant,p.Glu457Val,ENST00000377479,;SLC45A1,missense_variant,p.Glu423Val,ENST00000471889,;Y_RNA,downstream_gene_variant,,ENST00000516445,;SLC45A1,non_coding_transcript_exon_variant,,ENST00000481265,;SLC45A1,non_coding_transcript_exon_variant,,ENST00000497660,;	1653	88	67	SUCCESS
LPAR3	23566	.	GRCh37	1	85331282	85331282	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	35	93	0	ENST00000370611.3:c.522T>G	p.Ser174=	p.S174=	ENST00000370611	NM_012152.2	174	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS700.1	522	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCAGAGAT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF21,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000395389	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000440886	Transcript	.	.	ENSG00000171517	14298	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPAR3_HUMAN	LPAR3	HGNC	.	.	UPI000003CAC0	SNV	LPAR3,synonymous_variant,p.%3D,ENST00000440886,;LPAR3,synonymous_variant,p.%3D,ENST00000370611,;LPAR3,intron_variant,,ENST00000491034,;	561	93	93	SUCCESS
SYDE2	84144	.	GRCh37	1	85647970	85647970	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	10	193	0	ENST00000341460.5:c.2355A>G	p.Arg785=	p.R785=	ENST00000341460	NM_032184.1	785	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS44169.1	2355	MUTECT|MUSE	.	AGACCTCTAGG	NONE	.	.	Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178	.	.	ENSP00000340594	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000341460	Transcript	.	.	ENSG00000097096	25841	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYDE2_HUMAN	SYDE2	HGNC	.	.	UPI0001553B04	SNV	SYDE2,synonymous_variant,p.%3D,ENST00000341460,;SYDE2,non_coding_transcript_exon_variant,,ENST00000234668,;	2405	193	167	SUCCESS
CLCA1	1179	.	GRCh37	1	86961307	86961307	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs566492008	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	37	91	0	ENST00000234701.3:c.2062G>T	p.Val688Leu	p.V688L	ENST00000234701		688	Gtg/Ttg	0	.	A:0	.	A:0	.	T	V/L	protein_coding	YES	CCDS709.1	2062	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGTGATA	NONE	by1000G	.	hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868	A:0	.	ENSP00000234701	A:0	13/15	.	.	.	.	.	.	.	.	rs566492008	13/15	PASS	ENST00000234701	Transcript	.	A:0.0002	ENSG00000016490	2015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0.001	tolerated(1)	.	CLCA1_HUMAN	CLCA1	HGNC	.	.	UPI00001AE689	SNV	CLCA1,missense_variant,p.Val688Leu,ENST00000234701,;CLCA1,missense_variant,p.Val688Leu,ENST00000394711,;	2413	91	80	SUCCESS
ZNF644	84146	.	GRCh37	1	91403139	91403139	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	101	0	ENST00000337393.5:c.3591A>T	p.Thr1197=	p.T1197=	ENST00000337393	NM_201269.2	1197	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS731.1	3591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCTGTCTG	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF180	.	.	ENSP00000359469	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,synonymous_variant,p.%3D,ENST00000370440,;ZNF644,synonymous_variant,p.%3D,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,;ZNF644,upstream_gene_variant,,ENST00000479798,;	3809	101	66	SUCCESS
ZNF644	84146	.	GRCh37	1	91405810	91405810	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	81	0	ENST00000337393.5:c.1101A>T	p.Pro367=	p.P367=	ENST00000337393	NM_201269.2	367	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS731.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTGGGTT	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF180	.	.	ENSP00000359469	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,synonymous_variant,p.%3D,ENST00000370440,;ZNF644,synonymous_variant,p.%3D,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,;ZNF644,upstream_gene_variant,,ENST00000479798,;	1319	81	84	SUCCESS
ZNF644	84146	.	GRCh37	1	91406111	91406111	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	38	86	0	ENST00000337393.5:c.800A>T	p.Gln267Leu	p.Q267L	ENST00000337393	NM_201269.2	267	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS731.1	800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTGAATG	NONE	.	.	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF180	.	.	ENSP00000359469	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000370440	Transcript	.	.	ENSG00000122482	29222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	deleterious(0.01)	.	ZN644_HUMAN	ZNF644	HGNC	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN	.	UPI000004A010	SNV	ZNF644,missense_variant,p.Gln267Leu,ENST00000370440,;ZNF644,missense_variant,p.Gln267Leu,ENST00000337393,;ZNF644,intron_variant,,ENST00000347275,;ZNF644,intron_variant,,ENST00000361321,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,;	1018	86	75	SUCCESS
HFM1	164045	.	GRCh37	1	91859872	91859872	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs201897123	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	67	165	0	ENST00000370425.3:c.272A>T	p.Gln91Leu	p.Q91L	ENST00000370425	NM_001017975.3	91	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS30769.2	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGGAAT	NONE	byCluster	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47	.	.	ENSP00000359454	.	4/39	.	.	.	.	.	.	.	.	rs201897123	4/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious_low_confidence(0.03)	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	SNV	HFM1,missense_variant,p.Gln91Leu,ENST00000455133,;HFM1,missense_variant,p.Gln91Leu,ENST00000370425,;HFM1,missense_variant,p.Gln49Leu,ENST00000427444,;HFM1,5_prime_UTR_variant,,ENST00000294696,;HFM1,intron_variant,,ENST00000370424,;HFM1,intron_variant,,ENST00000448819,;HFM1,non_coding_transcript_exon_variant,,ENST00000488023,;HFM1,non_coding_transcript_exon_variant,,ENST00000481900,;	371	165	160	SUCCESS
BRDT	676	.	GRCh37	1	92442752	92442752	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	74	227	0	ENST00000362005.3:c.771T>C	p.Ser257=	p.S257=	ENST00000362005	NM_001242805.1	257	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS735.1	771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTCAGCA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133	.	.	ENSP00000354568	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000362005	Transcript	.	.	ENSG00000137948	1105	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRDT_HUMAN	BRDT	HGNC	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN	.	UPI000013D0E1	SNV	BRDT,synonymous_variant,p.%3D,ENST00000370389,;BRDT,synonymous_variant,p.%3D,ENST00000426141,;BRDT,synonymous_variant,p.%3D,ENST00000402388,;BRDT,synonymous_variant,p.%3D,ENST00000394530,;BRDT,synonymous_variant,p.%3D,ENST00000362005,;BRDT,synonymous_variant,p.%3D,ENST00000399546,;BRDT,downstream_gene_variant,,ENST00000440509,;BRDT,downstream_gene_variant,,ENST00000427104,;BRDT,downstream_gene_variant,,ENST00000423434,;BRDT,downstream_gene_variant,,ENST00000448194,;BRDT,non_coding_transcript_exon_variant,,ENST00000484781,;	1189	227	192	SUCCESS
ABCA4	24	.	GRCh37	1	94586652	94586652	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	52	0	ENST00000370225.3:c.-51T>A		p.*17*	ENST00000370225	NM_000350.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACAGCAAA	NONE	.	.	.	.	.	ENSP00000359245	.	1/50	.	.	.	.	.	.	.	.	.	1/50	PASS	ENST00000370225	Transcript	.	.	ENSG00000198691	34	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA4_HUMAN	ABCA4	HGNC	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN	.	UPI000012511C	SNV	ABCA4,5_prime_UTR_variant,,ENST00000370225,;ABCA4,5_prime_UTR_variant,,ENST00000535735,;	37	52	50	SUCCESS
CLSTN1	22883	.	GRCh37	1	9795215	9795215	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750303998	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	52	0	ENST00000377298.4:c.1901C>T	p.Thr634Ile	p.T634I	ENST00000377298	NM_001009566.1	634	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS30580.1	1901	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGTGGCC	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF4	.	.	ENSP00000366513	.	14/19	.	.	.	.	.	.	.	.	rs750303998	14/19	PASS	ENST00000377298	Transcript	.	.	ENSG00000171603	17447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0.02)	.	CSTN1_HUMAN	CLSTN1	HGNC	.	.	UPI0000127B95	SNV	CLSTN1,missense_variant,p.Thr435Ile,ENST00000435891,;CLSTN1,missense_variant,p.Thr634Ile,ENST00000377298,;CLSTN1,missense_variant,p.Thr615Ile,ENST00000377288,;CLSTN1,missense_variant,p.Thr624Ile,ENST00000361311,;CLSTN1,upstream_gene_variant,,ENST00000477264,;	2694	52	34	SUCCESS
LPPR4	0	.	GRCh37	1	99771914	99771914	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs34157632	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	34	84	0	ENST00000370185.3:c.1644del	p.Ser550AlafsTer9	p.S550Afs*9	ENST00000370185	NM_014839.4	547	tCc/tc	0	.	G:0	.	G:0	.	-	S/X	protein_coding	YES	CCDS757.1	1640	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACCTCCCCCA	NONE	byCluster|by1000G	.	.	G:0.001	.	ENSP00000359204	G:0	7/7	.	.	.	.	.	.	.	.	rs201251961,COSM1503797	7/7	PASS	ENST00000370185	Transcript	.	G:0.0002	ENSG00000117600	.	4	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	G:0	.	0,1	LPPR4_HUMAN	LPPR4	Uniprot_gn	.	.	UPI0000161229	deletion	LPPR4,frameshift_variant,p.Ser550AlafsTer9,ENST00000370185,;LPPR4,frameshift_variant,p.Ser492AlafsTer9,ENST00000457765,;LPPR4,frameshift_variant,p.Ser392AlafsTer9,ENST00000370184,;	2137	84	93	SUCCESS
TMEM74B	55321	.	GRCh37	20	1162189	1162189	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	17	0	ENST00000381894.3:c.74T>C	p.Met25Thr	p.M25T	ENST00000381894	NM_018354.1	25	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS13011.1	74	MUTECT|MUSE	.	ATGCCATTGGG	NONE	.	.	hmmpanther:PTHR16125:SF4,hmmpanther:PTHR16125	.	.	ENSP00000371318	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381894	Transcript	.	.	ENSG00000125895	15893	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	TM74B_HUMAN	TMEM74B	HGNC	Q5QPM3_HUMAN	.	UPI0000049822	SNV	TMEM74B,missense_variant,p.Met25Thr,ENST00000381894,;TMEM74B,missense_variant,p.Met25Thr,ENST00000429036,;TMEM74B,non_coding_transcript_exon_variant,,ENST00000481747,;PSMF1,downstream_gene_variant,,ENST00000418246,;	746	17	23	SUCCESS
SIRPB1	10326	.	GRCh37	20	1551660	1551660	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs201191774	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	38	94	0	ENST00000381605.4:c.875T>A	p.Val292Glu	p.V292E	ENST00000381605	NM_006065.3	292	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS13019.1	875	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACACATTT	NONE	by1000G	.	Superfamily_domains:SSF48726,SMART_domains:SM00407,SMART_domains:SM00409,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	.	.	ENSP00000371018	.	4/6	.	.	.	.	.	.	.	.	rs201191774	4/6	PASS	ENST00000381605	Transcript	.	.	ENSG00000101307	15928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	tolerated(0.08)	.	SIRB1_HUMAN	SIRPB1	HGNC	.	.	UPI000036700F	SNV	SIRPB1,missense_variant,p.Val292Glu,ENST00000381605,;SIRPB1,missense_variant,p.Val106Glu,ENST00000565076,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000566961,;RP4-576H24.4,intron_variant,,ENST00000567028,;SIRPB1,intron_variant,,ENST00000262929,;SIRPB1,intron_variant,,ENST00000563840,;SIRPB1,intron_variant,,ENST00000381603,;SIRPB1,intron_variant,,ENST00000569629,;	940	94	136	SUCCESS
KIF16B	55614	.	GRCh37	20	16485049	16485049	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs766114005	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	48	134	0	ENST00000354981.2:c.1144A>T	p.Arg382Ter	p.R382*	ENST00000354981	NM_024704.4	382	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS56178.1	1144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCTGGCTA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF400,hmmpanther:PTHR24115,Superfamily_domains:SSF52540	.	.	ENSP00000384164	.	10/23	.	.	.	.	.	.	.	.	rs766114005	10/23	PASS	ENST00000408042	Transcript	.	.	ENSG00000089177	15869	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI16B_HUMAN	KIF16B	HGNC	.	.	UPI00003BF77C	SNV	KIF16B,stop_gained,p.Arg382Ter,ENST00000408042,;KIF16B,stop_gained,p.Arg382Ter,ENST00000354981,;KIF16B,stop_gained,p.Arg382Ter,ENST00000355755,;KIF16B,5_prime_UTR_variant,,ENST00000378003,;	1302	134	105	SUCCESS
XRN2	22803	.	GRCh37	20	21369946	21369946	+	synonymous_variant	Silent	SNP	A	A	T	rs1277339259	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	36	81	1	ENST00000377191.3:c.2823A>T	p.Pro941=	p.P941=	ENST00000377191	NM_012255.3	941	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13144.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCACCACC	NONE	.	.	hmmpanther:PTHR12341,PIRSF_domain:PIRSF037239	.	.	ENSP00000366396	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000377191	Transcript	.	.	ENSG00000088930	12836	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XRN2_HUMAN	XRN2	HGNC	B4DZC3_HUMAN	.	UPI0000037D02	SNV	XRN2,synonymous_variant,p.%3D,ENST00000539513,;XRN2,synonymous_variant,p.%3D,ENST00000430571,;XRN2,synonymous_variant,p.%3D,ENST00000377191,;	2918	82	76	SUCCESS
NKX2-2	4821	.	GRCh37	20	21492594	21492594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	21	0	ENST00000377142.4:c.789C>A	p.His263Gln	p.H263Q	ENST00000377142	NM_002509.3	263	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS13145.1	789	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGTGTGC	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24	.	.	ENSP00000366347	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377142	Transcript	.	.	ENSG00000125820	7835	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.22)	.	NKX22_HUMAN	NKX2-2	HGNC	.	.	UPI00001301E6	SNV	NKX2-2,missense_variant,p.His263Gln,ENST00000377142,;NKX2-2-AS1,non_coding_transcript_exon_variant,,ENST00000549659,;	1146	21	17	SUCCESS
CST9	128822	.	GRCh37	20	23586297	23586297	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	55	102	0	ENST00000376971.3:c.205A>C	p.Arg69=	p.R69=	ENST00000376971	NM_001008693.2	69	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS33450.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTGTAGG	NONE	.	.	Superfamily_domains:SSF54403,Pfam_domain:PF00031,Gene3D:3.10.450.10,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF47	.	.	ENSP00000366170	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376971	Transcript	.	.	ENSG00000173335	13261	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9_HUMAN	CST9	HGNC	.	.	UPI000013ED7B	SNV	CST9,synonymous_variant,p.%3D,ENST00000376971,;	217	102	114	SUCCESS
C20orf141	128653	.	GRCh37	20	2796253	2796253	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	80	0	ENST00000380589.4:c.330T>A	p.Gly110=	p.G110=	ENST00000380589	NM_080739.2	110	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13034.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGTCCTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000369963	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380589	Transcript	.	.	ENSG00000258713	16134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT141_HUMAN	C20orf141	HGNC	.	.	UPI0000037B8A	SNV	C20orf141,synonymous_variant,p.%3D,ENST00000603872,;C20orf141,synonymous_variant,p.%3D,ENST00000380589,;TMEM239,intron_variant,,ENST00000380593,;TMEM239,intron_variant,,ENST00000554164,;TMEM239,upstream_gene_variant,,ENST00000380585,;TMEM239,upstream_gene_variant,,ENST00000361033,;	504	80	68	SUCCESS
HM13	81502	.	GRCh37	20	30102430	30102430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	63	0	ENST00000340852.5:c.76C>T	p.Pro26Ser	p.P26S	ENST00000340852	NM_030789.2	26	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS42861.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCGCCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF23	.	.	ENSP00000381237	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000398174	Transcript	.	.	ENSG00000101294	16435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.853)	.	tolerated(0.07)	.	HM13_HUMAN	HM13	HGNC	.	.	UPI000001358F	SNV	HM13,missense_variant,p.Pro26Ser,ENST00000344042,;HM13,missense_variant,p.Pro26Ser,ENST00000376127,;HM13,missense_variant,p.Pro26Ser,ENST00000398174,;HM13,missense_variant,p.Pro26Ser,ENST00000335574,;HM13,missense_variant,p.Pro26Ser,ENST00000340852,;HM13,non_coding_transcript_exon_variant,,ENST00000460225,;HM13,non_coding_transcript_exon_variant,,ENST00000496438,;HM13,upstream_gene_variant,,ENST00000466766,;HM13,non_coding_transcript_exon_variant,,ENST00000498035,;	200	63	72	SUCCESS
FOXS1	2307	.	GRCh37	20	30432970	30432970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	23	0	ENST00000375978.3:c.376C>T	p.Pro126Ser	p.P126S	ENST00000375978	NM_004118.3	126	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS13192.1	376	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGGCCCC	NONE	.	.	hmmpanther:PTHR11829:SF68,hmmpanther:PTHR11829	.	.	ENSP00000365145	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375978	Transcript	.	.	ENSG00000179772	3735	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.021)	.	tolerated(0.2)	.	FOXS1_HUMAN	FOXS1	HGNC	.	.	UPI000003603C	SNV	FOXS1,missense_variant,p.Pro126Ser,ENST00000375978,;DUSP15,downstream_gene_variant,,ENST00000447647,;DUSP15,downstream_gene_variant,,ENST00000278979,;	451	23	22	SUCCESS
XKR7	343702	.	GRCh37	20	30585087	30585087	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	27	0	ENST00000562532.2:c.1567A>T	p.Ile523Phe	p.I523F	ENST00000562532	NM_001011718.1	523	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS33459.1	1567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCATCCGG	NONE	.	.	hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9	.	.	ENSP00000477059	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000562532	Transcript	.	.	ENSG00000260903	23062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	XKR7_HUMAN	XKR7	HGNC	.	.	UPI00004C7A9E	SNV	XKR7,missense_variant,p.Ile523Phe,ENST00000562532,;	1741	27	26	SUCCESS
BPIFB2	80341	.	GRCh37	20	31604907	31604907	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	50	0	ENST00000170150.3:c.576T>C		p.X192_splice	ENST00000170150	NM_025227.2	192	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS13210.1	576	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATTGGTAA	NONE	.	.	Superfamily_domains:SSF55394,Gene3D:1ewfA02,hmmpanther:PTHR10504:SF68,hmmpanther:PTHR10504	.	.	ENSP00000170150	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000170150	Transcript	.	.	ENSG00000078898	16177	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIB2_HUMAN	BPIFB2	HGNC	.	.	UPI00000377B0	SNV	BPIFB2,synonymous_variant,p.%3D,ENST00000170150,;	771	50	34	SUCCESS
DDRGK1	65992	.	GRCh37	20	3180750	3180750	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	60	0	ENST00000354488.3:c.409-2A>C		p.X137_splice	ENST00000354488	NM_023935.1	137		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13050.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGGAGA	NONE	.	.	.	.	.	ENSP00000346483	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354488	Transcript	.	.	ENSG00000198171	16110	.	.	HIGH	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDRGK_HUMAN	DDRGK1	HGNC	.	.	UPI0000001C9A	SNV	DDRGK1,splice_acceptor_variant,,ENST00000354488,;DDRGK1,splice_acceptor_variant,,ENST00000380201,;DDRGK1,upstream_gene_variant,,ENST00000470203,;	.	60	64	SUCCESS
BPIFA1	51297	.	GRCh37	20	31827623	31827623	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	32	94	0	ENST00000354297.4:c.335A>G	p.Asp112Gly	p.D112G	ENST00000354297	NM_130852.2	112	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS13217.1	335	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGACCCCC	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Pfam_domain:PF01273,Superfamily_domains:SSF55394	.	.	ENSP00000346251	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000354297	Transcript	.	.	ENSG00000198183	15749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.13)	.	BPIA1_HUMAN	BPIFA1	HGNC	A6XMV5_HUMAN	.	UPI0000048F11	SNV	BPIFA1,missense_variant,p.Asp112Gly,ENST00000375413,;BPIFA1,missense_variant,p.Asp112Gly,ENST00000375422,;BPIFA1,missense_variant,p.Asp112Gly,ENST00000354297,;AL121901.1,downstream_gene_variant,,ENST00000601172,;	406	94	95	SUCCESS
NECAB3	63941	.	GRCh37	20	32247787	32247787	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200489455	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	23	0	ENST00000246190.6:c.547G>A	p.Ala183Thr	p.A183T	ENST00000246190	NM_031232.3	183	Gcg/Acg	0	.	T:0	.	T:0.0014	.	T	A/T	protein_coding	YES	CCDS42866.1	547	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGCCTCCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR12178,hmmpanther:PTHR12178:SF3	T:0	.	ENSP00000246190	T:0	7/12	.	.	.	.	.	.	.	.	rs200489455	7/12	PASS	ENST00000246190	Transcript	.	T:0.0002	ENSG00000125967	15851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	T:0	tolerated(0.54)	.	NECA3_HUMAN	NECAB3	HGNC	H0UI92_HUMAN	.	UPI0000125101	SNV	NECAB3,missense_variant,p.Ala183Thr,ENST00000375238,;NECAB3,missense_variant,p.Ala183Thr,ENST00000439478,;NECAB3,missense_variant,p.Ala183Thr,ENST00000606690,;NECAB3,missense_variant,p.Ala183Thr,ENST00000246190,;NECAB3,5_prime_UTR_variant,,ENST00000480994,;C20orf144,upstream_gene_variant,,ENST00000375222,;RP1-63M2.6,downstream_gene_variant,,ENST00000607224,;NECAB3,non_coding_transcript_exon_variant,,ENST00000498353,;NECAB3,non_coding_transcript_exon_variant,,ENST00000463246,;NECAB3,non_coding_transcript_exon_variant,,ENST00000606106,;NECAB3,non_coding_transcript_exon_variant,,ENST00000485976,;NECAB3,non_coding_transcript_exon_variant,,ENST00000478237,;NECAB3,non_coding_transcript_exon_variant,,ENST00000483813,;NECAB3,non_coding_transcript_exon_variant,,ENST00000494174,;NECAB3,non_coding_transcript_exon_variant,,ENST00000606525,;NECAB3,upstream_gene_variant,,ENST00000477778,;NECAB3,missense_variant,p.Gly181Asp,ENST00000607805,;NECAB3,3_prime_UTR_variant,,ENST00000485399,;NECAB3,3_prime_UTR_variant,,ENST00000493590,;NECAB3,3_prime_UTR_variant,,ENST00000488489,;NECAB3,downstream_gene_variant,,ENST00000606699,;C20orf144,upstream_gene_variant,,ENST00000607738,;	603	23	27	SUCCESS
EDEM2	55741	.	GRCh37	20	33714169	33714169	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	94	0	ENST00000374492.3:c.854A>G	p.Lys285Arg	p.K285R	ENST00000374492	NM_018217.2	285	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS13247.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTTTGTTA	NONE	.	.	Superfamily_domains:SSF48225,Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26	.	.	ENSP00000363616	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000374492	Transcript	.	.	ENSG00000088298	15877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.39)	.	EDEM2_HUMAN	EDEM2	HGNC	B4E1F4_HUMAN	.	UPI00001285D9	SNV	EDEM2,missense_variant,p.Lys244Arg,ENST00000540582,;EDEM2,missense_variant,p.Lys248Arg,ENST00000374491,;EDEM2,missense_variant,p.Lys285Arg,ENST00000374492,;EDEM2,missense_variant,p.Lys64Arg,ENST00000541621,;EDEM2,missense_variant,p.Lys9Arg,ENST00000542871,;	960	94	63	SUCCESS
MMP24	10893	.	GRCh37	20	33839777	33839777	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	80	0	ENST00000246186.6:c.465C>A	p.Arg155=	p.R155=	ENST00000246186	NM_006690.3	155	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46593.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGCTATGC	NONE	.	.	hmmpanther:PTHR10201:SF138,hmmpanther:PTHR10201,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191	.	.	ENSP00000246186	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000246186	Transcript	.	.	ENSG00000125966	7172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP24_HUMAN	MMP24	HGNC	Q86VV6_HUMAN	.	UPI000012F259	SNV	MMP24,synonymous_variant,p.%3D,ENST00000246186,;EDEM2,intron_variant,,ENST00000540582,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,downstream_gene_variant,,ENST00000453892,;	550	80	63	SUCCESS
CEP250	11190	.	GRCh37	20	34065725	34065725	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	108	0	ENST00000397527.1:c.1893C>G	p.Ser631Arg	p.S631R	ENST00000397527	NM_007186.3	631	agC/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS13255.1	1893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGCAGAAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	.	.	ENSP00000380661	.	17/35	.	.	.	.	.	.	.	.	.	17/35	PASS	ENST00000397527	Transcript	.	.	ENSG00000126001	1859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	CP250_HUMAN	CEP250	HGNC	Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN	.	UPI000006FE8F	SNV	CEP250,missense_variant,p.Ser630Arg,ENST00000425934,;CEP250,missense_variant,p.Ser145Arg,ENST00000425096,;CEP250,missense_variant,p.Ser631Arg,ENST00000342580,;CEP250,missense_variant,p.Ser631Arg,ENST00000397527,;RP3-477O4.14,non_coding_transcript_exon_variant,,ENST00000416260,;RP3-477O4.14,intron_variant,,ENST00000444933,;RP3-477O4.14,intron_variant,,ENST00000453914,;CEP250,3_prime_UTR_variant,,ENST00000461386,;	2613	108	92	SUCCESS
SOGA1	140710	.	GRCh37	20	35423004	35423004	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	74	0	ENST00000237536.4:c.3483-2A>T		p.X1161_splice	ENST00000237536	NM_080627.2	1161		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54459.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTGCGAA	NONE	.	.	.	.	.	ENSP00000237536	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	HIGH	13/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,splice_acceptor_variant,,ENST00000237536,;SOGA1,splice_acceptor_variant,,ENST00000279034,;SOGA1,splice_acceptor_variant,,ENST00000357779,;SOGA1,splice_acceptor_variant,,ENST00000456801,;SOGA1,splice_acceptor_variant,,ENST00000465671,;	.	74	63	SUCCESS
MROH8	140699	.	GRCh37	20	35802476	35802476	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	45	0	ENST00000343811.4:c.382A>G	p.Ser128Gly	p.S128G	ENST00000343811	NM_152503.4	128	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	.	382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTGTCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23120:SF4,hmmpanther:PTHR23120	.	.	ENSP00000339971	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000343811	Transcript	.	.	ENSG00000101353	16125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	deleterious_low_confidence(0.02)	.	.	MROH8	HGNC	Q5JYR0_HUMAN,Q5JYQ9_HUMAN	.	UPI0000E5A31D	SNV	MROH8,missense_variant,p.Ser128Gly,ENST00000343811,;MROH8,missense_variant,p.Ser101Gly,ENST00000400441,;MROH8,missense_variant,p.Ser138Gly,ENST00000421643,;MROH8,missense_variant,p.Ser16Gly,ENST00000217333,;MROH8,missense_variant,p.Ser87Gly,ENST00000441008,;MROH8,missense_variant,p.Ser132Gly,ENST00000400440,;MROH8,5_prime_UTR_variant,,ENST00000422138,;MROH8,intron_variant,,ENST00000434295,;RPN2,upstream_gene_variant,,ENST00000237530,;RPN2,upstream_gene_variant,,ENST00000456102,;	381	45	54	SUCCESS
BPI	671	.	GRCh37	20	36956045	36956045	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	59	1	ENST00000262865.4:c.1229T>A	p.Leu410His	p.L410H	ENST00000262865	NM_001725.2	410	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS13303.1	1229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTCAAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF66,Gene3D:1ewfA02,Pfam_domain:PF02886,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	.	ENSP00000262865	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000262865	Transcript	.	.	ENSG00000101425	1095	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BPI_HUMAN	BPI	HGNC	B4DKH6_HUMAN	.	UPI000013D349	SNV	BPI,missense_variant,p.Leu236His,ENST00000417318,;BPI,missense_variant,p.Leu410His,ENST00000262865,;CTD-2308N23.2,upstream_gene_variant,,ENST00000437016,;BPI,non_coding_transcript_exon_variant,,ENST00000489102,;	1318	60	62	SUCCESS
LPIN3	64900	.	GRCh37	20	39978721	39978721	+	synonymous_variant	Silent	SNP	C	C	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	77	0	ENST00000373257.3:c.786C>G	p.Ser262=	p.S262=	ENST00000373257	NM_022896.1	262	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS33469.1	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCCTCAGT	NONE	.	.	hmmpanther:PTHR12181:SF32,hmmpanther:PTHR12181	.	.	ENSP00000362354	.	7/20	.	.	.	.	.	.	.	.	COSM3911303	7/20	PASS	ENST00000373257	Transcript	.	.	ENSG00000132793	14451	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LPIN3_HUMAN	LPIN3	HGNC	.	.	UPI0000470AE3	SNV	LPIN3,synonymous_variant,p.%3D,ENST00000373257,;LPIN3,upstream_gene_variant,,ENST00000445975,;	877	77	74	SUCCESS
SMOX	54498	.	GRCh37	20	4168039	4168039	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	97	0	ENST00000305958.4:c.1653C>T	p.Phe551=	p.F551=	ENST00000305958	NM_175839.2	551	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS13075.1	1653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCCAGCA	NONE	.	.	hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF44	.	.	ENSP00000307252	.	7/7	.	.	.	.	.	.	.	.	COSM3546657,COSM3546658	7/7	PASS	ENST00000305958	Transcript	.	.	ENSG00000088826	15862	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SMOX_HUMAN	SMOX	HGNC	.	.	UPI000006CE86	SNV	SMOX,synonymous_variant,p.%3D,ENST00000305958,;SMOX,synonymous_variant,p.%3D,ENST00000339123,;SMOX,synonymous_variant,p.%3D,ENST00000457205,;SMOX,synonymous_variant,p.%3D,ENST00000346595,;SMOX,synonymous_variant,p.%3D,ENST00000278795,;SMOX,synonymous_variant,p.%3D,ENST00000379460,;SMOX,non_coding_transcript_exon_variant,,ENST00000494098,;SMOX,non_coding_transcript_exon_variant,,ENST00000486998,;SMOX,downstream_gene_variant,,ENST00000466004,;	1878	97	65	SUCCESS
ADRA1D	146	.	GRCh37	20	4202598	4202598	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	12	0	ENST00000379453.4:c.1291T>G	p.Trp431Gly	p.W431G	ENST00000379453	NM_000678.3	431	Tgg/Ggg	0	.	.	.	.	.	C	W/G	protein_coding	YES	CCDS13079.1	1291	RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCAGAGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14	.	.	ENSP00000368766	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.075)	.	deleterious(0.01)	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,missense_variant,p.Trp431Gly,ENST00000379453,;	1408	12	17	SUCCESS
ADRA1D	146	.	GRCh37	20	4228555	4228555	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	66	199	0	ENST00000379453.4:c.1050G>T	p.Leu350=	p.L350=	ENST00000379453	NM_000678.3	350	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13079.1	1050	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCAGAGT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,PROSITE_profiles:PS50262	.	.	ENSP00000368766	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000379453	Transcript	.	.	ENSG00000171873	280	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA1D_HUMAN	ADRA1D	HGNC	B0ZBE0_HUMAN	.	UPI000003B078	SNV	ADRA1D,synonymous_variant,p.%3D,ENST00000379453,;	1167	199	151	SUCCESS
R3HDML	140902	.	GRCh37	20	42973928	42973928	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	86	1	ENST00000217043.2:c.539T>A	p.Leu180Gln	p.L180Q	ENST00000217043	NM_178491.3	180	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13329.1	539	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGCTGGGCT	NONE	.	.	hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797,Prints_domain:PR00837	.	.	ENSP00000217043	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000217043	Transcript	.	.	ENSG00000101074	16249	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.964)	.	deleterious(0)	.	CRSPL_HUMAN	R3HDML	HGNC	.	.	UPI00000422F8	SNV	R3HDML,missense_variant,p.Leu180Gln,ENST00000217043,;Y_RNA,downstream_gene_variant,,ENST00000364493,;RP5-881L22.5,downstream_gene_variant,,ENST00000438702,;	711	87	91	SUCCESS
STK4	6789	.	GRCh37	20	43607128	43607128	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	66	0	ENST00000372806.3:c.161A>T	p.Gln54Leu	p.Q54L	ENST00000372806	NM_006282.2	54	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13341.1	161	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCAGATTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF275,PROSITE_profiles:PS50011	.	.	ENSP00000361892	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000372806	Transcript	1	.	ENSG00000101109	11408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	deleterious(0.02)	.	STK4_HUMAN	STK4	HGNC	Q9BS84_HUMAN	.	UPI00001360FF	SNV	STK4,missense_variant,p.Gln54Leu,ENST00000499879,;STK4,missense_variant,p.Gln54Leu,ENST00000372806,;STK4,missense_variant,p.Gln54Leu,ENST00000372801,;STK4,missense_variant,p.Gln54Leu,ENST00000396731,;STK4,non_coding_transcript_exon_variant,,ENST00000474717,;STK4,downstream_gene_variant,,ENST00000487587,;STK4,downstream_gene_variant,,ENST00000480745,;	256	66	55	SUCCESS
SEMG2	6407	.	GRCh37	20	43851485	43851485	+	synonymous_variant	Silent	SNP	T	T	C	rs757135880	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	42	102	0	ENST00000372769.3:c.1212T>C	p.Asn404=	p.N404=	ENST00000372769	NM_003008.2	404	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS13346.1	1212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATAAAAT	BUFFER|p.E403K|c.1207G>A|3	byFrequency	.	hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6,Pfam_domain:PF05474	.	.	ENSP00000361855	.	2/3	.	.	.	.	.	.	.	.	rs757135880	2/3	PASS	ENST00000372769	Transcript	.	.	ENSG00000124157	10743	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEMG2_HUMAN	SEMG2	HGNC	.	.	UPI0000135845	SNV	SEMG2,synonymous_variant,p.%3D,ENST00000372769,;	1302	102	97	SUCCESS
SLC12A5	57468	.	GRCh37	20	44684872	44684872	+	synonymous_variant	Silent	SNP	A	A	G	rs773491710	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	30	89	0	ENST00000454036.2:c.2940A>G	p.Glu980=	p.E980=	ENST00000454036	NM_001134771.1	980	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS46610.1	2940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAAGAGAC	NONE	.	.	hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000387694	.	22/26	.	.	.	.	.	.	.	.	rs773491710	22/26	PASS	ENST00000454036	Transcript	.	.	ENSG00000124140	13818	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S12A5_HUMAN	SLC12A5	HGNC	B7Z3I0_HUMAN	.	UPI00015F4605	SNV	SLC12A5,synonymous_variant,p.%3D,ENST00000454036,;SLC12A5,synonymous_variant,p.%3D,ENST00000243964,;NCOA5,downstream_gene_variant,,ENST00000290231,;	2989	89	82	SUCCESS
CSE1L	1434	.	GRCh37	20	47675054	47675054	+	synonymous_variant	Silent	SNP	A	A	G	rs750060417	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	27	61	0	ENST00000262982.2:c.54A>G	p.Thr18=	p.T18=	ENST00000262982	NM_001316.3	18	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS13412.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACACTTGA	NONE	.	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF8,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000262982	.	2/25	.	.	.	.	.	.	.	.	rs750060417	2/25	PASS	ENST00000262982	Transcript	.	.	ENSG00000124207	2431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPO2_HUMAN	CSE1L	HGNC	.	.	UPI000013D377	SNV	CSE1L,synonymous_variant,p.%3D,ENST00000396192,;CSE1L,synonymous_variant,p.%3D,ENST00000262982,;CSE1L,5_prime_UTR_variant,,ENST00000542325,;	177	61	49	SUCCESS
ZNFX1	57169	.	GRCh37	20	47879931	47879931	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139038003	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	81	0	ENST00000371752.1:c.2241G>T	p.Gln747His	p.Q747H	ENST00000371752		747	caG/caT	0	A:0	.	.	.	.	A	Q/H	protein_coding	YES	CCDS13417.1	2241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTACTGTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF341,Pfam_domain:PF13086	.	A:0.0002	ENSP00000379412	.	6/14	.	.	.	.	.	.	.	.	rs139038003	6/14	PASS	ENST00000396105	Transcript	.	.	ENSG00000124201	29271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	tolerated(0.22)	.	ZNFX1_HUMAN	ZNFX1	HGNC	Q5JXR5_HUMAN	.	UPI000012DD83	SNV	ZNFX1,missense_variant,p.Gln747His,ENST00000371752,;ZNFX1,missense_variant,p.Gln551His,ENST00000455070,;ZNFX1,missense_variant,p.Gln747His,ENST00000371754,;ZNFX1,missense_variant,p.Gln747His,ENST00000396105,;ZNFX1,missense_variant,p.Gln747His,ENST00000371744,;	2488	81	59	SUCCESS
SLC23A2	9962	.	GRCh37	20	4913132	4913132	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	28	74	0	ENST00000338244.1:c.77A>T	p.Glu26Val	p.E26V	ENST00000338244	NM_005116.5	26	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13085.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTCGTCT	NONE	.	.	.	.	.	ENSP00000368637	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000379333	Transcript	.	.	ENSG00000089057	10973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.353)	.	deleterious_low_confidence(0.01)	.	S23A2_HUMAN	SLC23A2	HGNC	Q4ZGM1_HUMAN	.	UPI0000136292	SNV	SLC23A2,missense_variant,p.Glu26Val,ENST00000379333,;SLC23A2,missense_variant,p.Glu26Val,ENST00000424750,;SLC23A2,missense_variant,p.Glu26Val,ENST00000338244,;SLC23A2,non_coding_transcript_exon_variant,,ENST00000468355,;	470	74	77	SUCCESS
SALL4	57167	.	GRCh37	20	50408636	50408636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	56	1	ENST00000217086.4:c.386G>T	p.Ser129Ile	p.S129I	ENST00000217086	NM_020436.3	129	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS13438.1	386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTACTGCCG	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	.	.	ENSP00000217086	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000217086	Transcript	1	.	ENSG00000101115	15924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.17)	.	SALL4_HUMAN	SALL4	HGNC	.	.	UPI0000135527	SNV	SALL4,missense_variant,p.Ser129Ile,ENST00000217086,;SALL4,missense_variant,p.Ser129Ile,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,non_coding_transcript_exon_variant,,ENST00000481363,;SALL4,non_coding_transcript_exon_variant,,ENST00000483130,;	498	57	45	SUCCESS
ZFP64	55734	.	GRCh37	20	50701565	50701565	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	37	0	ENST00000361387.2:c.1469A>C	p.Gln490Pro	p.Q490P	ENST00000361387	NM_199427.2	490	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	.	CCDS13439.1	1469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCTGGTGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24403:SF27,hmmpanther:PTHR24403	.	.	ENSP00000355179	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361387	Transcript	.	.	ENSG00000020256	15940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.718)	.	tolerated(0.17)	.	ZF64B_HUMAN	ZFP64	HGNC	.	.	UPI000013C56C	SNV	ZFP64,missense_variant,p.Gln490Pro,ENST00000361387,;ZFP64,missense_variant,p.Gln271Pro,ENST00000371523,;ZFP64,3_prime_UTR_variant,,ENST00000456175,;ZFP64,intron_variant,,ENST00000371518,;ZFP64,downstream_gene_variant,,ENST00000395989,;ZFP64,downstream_gene_variant,,ENST00000477786,;ZFP64,downstream_gene_variant,,ENST00000467811,;	1530	37	27	SUCCESS
RTFDC1	0	.	GRCh37	20	55047457	55047457	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	42	0	ENST00000023939.4:c.70-900G>A		p.*24*	ENST00000023939	NM_016407.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13453.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGACATG	NONE	.	.	.	.	.	ENSP00000023939	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000023939	Transcript	.	.	ENSG00000022277	15890	.	.	MODIFIER	1/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTF2_HUMAN	RTFDC1	HGNC	.	.	UPI000013C542	SNV	RTFDC1,missense_variant,p.Asp49Asn,ENST00000357348,;RTFDC1,missense_variant,p.Asp49Asn,ENST00000449062,;RTFDC1,intron_variant,,ENST00000395881,;RTFDC1,intron_variant,,ENST00000023939,;RTFDC1,downstream_gene_variant,,ENST00000435342,;snoU13,upstream_gene_variant,,ENST00000459416,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000484084,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000466260,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000487211,;	.	42	43	SUCCESS
GCNT7	140687	.	GRCh37	20	55071851	55071851	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	85	193	0	ENST00000243913.4:c.448A>T	p.Asn150Tyr	p.N150Y	ENST00000243913	NM_080615.1	150	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	.	448	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTTATGGG	NONE	.	.	hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF72,Pfam_domain:PF02485	.	.	ENSP00000243913	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000243913	Transcript	.	.	ENSG00000124091	16099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GCNT7_HUMAN	GCNT7	HGNC	F2Z6J8_HUMAN	.	UPI0000E5A355	SNV	GCNT7,missense_variant,p.Asn150Tyr,ENST00000243913,;RTFDC1,intron_variant,,ENST00000357348,;RTFDC1,intron_variant,,ENST00000395881,;RTFDC1,intron_variant,,ENST00000449062,;RTFDC1,intron_variant,,ENST00000023939,;	1520	193	204	SUCCESS
GCNT7	140687	.	GRCh37	20	55072607	55072607	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	42	0	ENST00000243913.4:c.-309T>G		p.*103*	ENST00000243913	NM_080615.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAAGATGC	NONE	.	.	.	.	.	ENSP00000243913	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000243913	Transcript	.	.	ENSG00000124091	16099	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GCNT7_HUMAN	GCNT7	HGNC	F2Z6J8_HUMAN	.	UPI0000E5A355	SNV	GCNT7,5_prime_UTR_variant,,ENST00000243913,;RTFDC1,intron_variant,,ENST00000357348,;RTFDC1,intron_variant,,ENST00000395881,;RTFDC1,intron_variant,,ENST00000449062,;RTFDC1,intron_variant,,ENST00000023939,;	764	42	42	SUCCESS
BMP7	655	.	GRCh37	20	55841042	55841042	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	29	0	ENST00000395863.3:c.137T>C	p.Leu46Pro	p.L46P	ENST00000395863	NM_001719.2	46	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS13455.1	137	MUTECT|MUSE	.	TGCGGAGGCGC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00688	.	.	ENSP00000379204	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000395863	Transcript	.	.	ENSG00000101144	1074	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	BMP7_HUMAN	BMP7	HGNC	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN	.	UPI00000349AD	SNV	BMP7,missense_variant,p.Leu46Pro,ENST00000395863,;BMP7,missense_variant,p.Leu46Pro,ENST00000450594,;BMP7,missense_variant,p.Leu46Pro,ENST00000395864,;BMP7,upstream_gene_variant,,ENST00000433911,;RP4-813D12.3,upstream_gene_variant,,ENST00000412321,;RP4-813D12.3,upstream_gene_variant,,ENST00000426580,;	643	29	28	SUCCESS
STX16	8675	.	GRCh37	20	57246218	57246218	+	synonymous_variant	Silent	SNP	A	A	G	rs546565420	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	79	0	ENST00000371141.4:c.657A>G	p.Thr219=	p.T219=	ENST00000371141	NM_001001433.2	219	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS13468.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACAGAGGA	NONE	byCluster	.	hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957,Gene3D:1.20.58.70,Superfamily_domains:SSF47661	.	.	ENSP00000360183	.	7/9	.	.	.	.	.	.	.	.	rs546565420	7/9	PASS	ENST00000371141	Transcript	1	.	ENSG00000124222	11431	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX16_HUMAN	STX16	HGNC	F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN	.	UPI0000376BCD	SNV	STX16,synonymous_variant,p.%3D,ENST00000355957,;STX16,synonymous_variant,p.%3D,ENST00000371132,;STX16,synonymous_variant,p.%3D,ENST00000371141,;STX16,synonymous_variant,p.%3D,ENST00000358029,;STX16,synonymous_variant,p.%3D,ENST00000312283,;STX16,synonymous_variant,p.%3D,ENST00000359617,;STX16,synonymous_variant,p.%3D,ENST00000361830,;STX16,synonymous_variant,p.%3D,ENST00000361770,;STX16,intron_variant,,ENST00000438253,;STX16,downstream_gene_variant,,ENST00000412911,;STX16,downstream_gene_variant,,ENST00000458280,;STX16,non_coding_transcript_exon_variant,,ENST00000490700,;STX16,non_coding_transcript_exon_variant,,ENST00000496117,;STX16,non_coding_transcript_exon_variant,,ENST00000468590,;STX16,intron_variant,,ENST00000496003,;STX16,splice_acceptor_variant,,ENST00000464640,;STX16-NPEPL1,synonymous_variant,p.%3D,ENST00000530122,;STX16,3_prime_UTR_variant,,ENST00000467096,;STX16,3_prime_UTR_variant,,ENST00000493301,;STX16,3_prime_UTR_variant,,ENST00000483434,;STX16,3_prime_UTR_variant,,ENST00000476384,;STX16,downstream_gene_variant,,ENST00000460655,;STX16-NPEPL1,upstream_gene_variant,,ENST00000413559,;	1381	79	65	SUCCESS
PHACTR3	116154	.	GRCh37	20	58349384	58349384	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	76	0	ENST00000371015.1:c.1013A>T	p.Glu338Val	p.E338V	ENST00000371015	NM_080672.4	338	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13480.1	1013	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGAGAGGG	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.11)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Glu297Val,ENST00000355648,;PHACTR3,missense_variant,p.Glu297Val,ENST00000541461,;PHACTR3,missense_variant,p.Glu227Val,ENST00000361300,;PHACTR3,missense_variant,p.Glu297Val,ENST00000395636,;PHACTR3,missense_variant,p.Glu338Val,ENST00000371015,;PHACTR3,missense_variant,p.Glu227Val,ENST00000395639,;PHACTR3,missense_variant,p.Glu335Val,ENST00000359926,;	1480	76	85	SUCCESS
CDH26	60437	.	GRCh37	20	58563998	58563998	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs547604097	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	59	0	ENST00000348616.4:c.1063A>G	p.Ile355Val	p.I355V	ENST00000348616	NM_177980.2	355	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS13485.1	1063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCATTGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000339390	.	9/18	.	.	.	.	.	.	.	.	rs547604097	9/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.144)	.	tolerated(0.1)	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,missense_variant,p.Ile355Val,ENST00000244047,;CDH26,missense_variant,p.Ile355Val,ENST00000348616,;CDH26,upstream_gene_variant,,ENST00000370991,;CDH26,non_coding_transcript_exon_variant,,ENST00000477058,;	1363	59	64	SUCCESS
MIR646	693231	.	GRCh37	20	58883542	58883542	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs550065207	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	35	0	ENST00000385067.1:n.11C>G		p.*4*	ENST00000385067				0	.	T:0	.	T:0	.	G	.	miRNA	YES	.	.	MUTECT|MUSE|VARSCANS	.	GGAGTCTGCCA	NONE	by1000G	.	.	T:0	.	.	T:0	1/1	.	.	.	.	.	.	.	.	rs550065207	1/1	PASS	ENST00000385067	Transcript	.	T:0.0002	ENSG00000207802	32902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.001	.	.	.	MIR646	HGNC	.	.	.	SNV	MIR646,non_coding_transcript_exon_variant,,ENST00000385067,;RP5-1043L13.1,intron_variant,,ENST00000437035,;RP5-1043L13.1,intron_variant,,ENST00000432910,;RP5-1043L13.1,intron_variant,,ENST00000421257,;	11	35	28	SUCCESS
BIRC7	79444	.	GRCh37	20	61867542	61867542	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs768709953	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	44	64	0	ENST00000217169.3:c.94C>A	p.Pro32Thr	p.P32T	ENST00000217169	NM_139317.2	32	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS13513.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGACCCCGC	NONE	.	.	.	.	.	ENSP00000217169	.	1/7	.	.	.	.	.	.	.	.	rs768709953	1/7	PASS	ENST00000217169	Transcript	.	.	ENSG00000101197	13702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.051)	.	tolerated(0.62)	.	BIRC7_HUMAN	BIRC7	HGNC	.	.	UPI00001269A6	SNV	BIRC7,missense_variant,p.Pro32Thr,ENST00000217169,;BIRC7,missense_variant,p.Pro32Thr,ENST00000342412,;NKAIN4,downstream_gene_variant,,ENST00000370316,;NKAIN4,downstream_gene_variant,,ENST00000370313,;BIRC7,upstream_gene_variant,,ENST00000395306,;MIR3196,upstream_gene_variant,,ENST00000579556,;NKAIN4,downstream_gene_variant,,ENST00000466885,;	308	64	46	SUCCESS
SRXN1	140809	.	GRCh37	20	633625	633625	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	17	0	ENST00000381962.3:c.205A>T	p.Ile69Phe	p.I69F	ENST00000381962	NM_080725.2	69	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS13005.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGATCGTGT	NONE	.	.	hmmpanther:PTHR21348,Pfam_domain:PF02195,Gene3D:3.90.1530.10,SMART_domains:SM00470,PIRSF_domain:PIRSF017267,Superfamily_domains:SSF110849	.	.	ENSP00000371388	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000381962	Transcript	.	.	ENSG00000271303	16132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	SRXN1_HUMAN	SRXN1	HGNC	.	.	UPI000000DC3B	SNV	SRXN1,missense_variant,p.Ile69Phe,ENST00000381962,;RP5-850E9.3,intron_variant,,ENST00000488788,;	390	17	27	SUCCESS
SLC52A3	113278	.	GRCh37	20	744623	744623	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs759918880	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	49	0	ENST00000217254.7:c.592G>T	p.Ala198Ser	p.A198S	ENST00000217254	NM_033409.3	198	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS13007.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGCGGACA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12929:SF4,hmmpanther:PTHR12929	.	.	ENSP00000217254	.	3/5	.	.	.	.	.	.	.	.	rs759918880	3/5	PASS	ENST00000217254	Transcript	1	.	ENSG00000101276	16187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.77)	.	S52A3_HUMAN	SLC52A3	HGNC	K0A6P4_HUMAN	.	UPI000002A74E	SNV	SLC52A3,missense_variant,p.Ala198Ser,ENST00000381944,;SLC52A3,missense_variant,p.Ala198Ser,ENST00000217254,;SLC52A3,intron_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	834	49	56	SUCCESS
PLCB1	23236	.	GRCh37	20	8696726	8696726	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	17	0	ENST00000338037.6:c.1251-185G>C		p.*417*	ENST00000338037	NM_015192.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13102.1	.	MUTECT|MUSE	.	TCGCTGTCCAT	NONE	.	.	.	.	.	ENSP00000338185	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODIFIER	12/31	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,intron_variant,,ENST00000378641,;PLCB1,intron_variant,,ENST00000338037,;PLCB1,intron_variant,,ENST00000378637,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,intron_variant,,ENST00000487210,;	.	17	12	SUCCESS
PLCB4	5332	.	GRCh37	20	9449299	9449299	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	33	0	ENST00000278655.4:c.3294G>A	p.Lys1098=	p.K1098=	ENST00000278655	NM_182797.2	1098	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS13104.1	3294	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAGAATAA	NONE	.	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448	.	.	ENSP00000367762	.	32/36	.	.	.	.	.	.	.	.	.	32/36	PASS	ENST00000378501	Transcript	1	.	ENSG00000101333	9059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCB4_HUMAN	PLCB4	HGNC	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN	.	UPI00002069DF	SNV	PLCB4,synonymous_variant,p.%3D,ENST00000334005,;PLCB4,synonymous_variant,p.%3D,ENST00000414679,;PLCB4,synonymous_variant,p.%3D,ENST00000278655,;PLCB4,synonymous_variant,p.%3D,ENST00000378473,;PLCB4,synonymous_variant,p.%3D,ENST00000378493,;PLCB4,synonymous_variant,p.%3D,ENST00000378501,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;	3309	33	35	SUCCESS
PAK7	0	.	GRCh37	20	9538336	9538336	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	29	54	0	ENST00000353224.5:c.1662A>T	p.Arg554Ser	p.R554S	ENST00000353224	NM_177990.2	554	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS13107.1	1662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTCTCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	.	.	ENSP00000367686	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.4)	.	deleterious(0)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Arg554Ser,ENST00000378423,;PAK7,missense_variant,p.Arg554Ser,ENST00000378429,;PAK7,missense_variant,p.Arg554Ser,ENST00000353224,;	2209	54	53	SUCCESS
PAK7	0	.	GRCh37	20	9546811	9546811	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	62	0	ENST00000353224.5:c.1211T>A	p.Leu404His	p.L404H	ENST00000353224	NM_177990.2	404	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS13107.1	1211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGAGGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.514)	.	tolerated(0.55)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Leu404His,ENST00000378423,;PAK7,missense_variant,p.Leu404His,ENST00000378429,;PAK7,missense_variant,p.Leu404His,ENST00000353224,;	1758	62	41	SUCCESS
PAK7	0	.	GRCh37	20	9561478	9561478	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	63	0	ENST00000353224.5:c.304A>G	p.Lys102Glu	p.K102E	ENST00000353224	NM_177990.2	102	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS13107.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTCCTTA	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.138)	.	deleterious(0.03)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Lys102Glu,ENST00000378423,;PAK7,missense_variant,p.Lys102Glu,ENST00000378429,;PAK7,missense_variant,p.Lys102Glu,ENST00000353224,;RP5-986I17.2,downstream_gene_variant,,ENST00000428769,;	851	63	62	SUCCESS
PAK7	0	.	GRCh37	20	9624845	9624845	+	synonymous_variant	Silent	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	34	98	0	ENST00000353224.5:c.132A>T	p.Ala44=	p.A44=	ENST00000353224	NM_177990.2	44	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13107.1	132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTGCTAA	NONE	.	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Pfam_domain:PF00786,Gene3D:3.90.810.10,SMART_domains:SM00285	.	.	ENSP00000367686	.	4/11	.	.	.	.	.	.	.	.	COSM121452	4/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,synonymous_variant,p.%3D,ENST00000378423,;PAK7,synonymous_variant,p.%3D,ENST00000378429,;PAK7,synonymous_variant,p.%3D,ENST00000353224,;	679	98	82	SUCCESS
TPTE	7179	.	GRCh37	21	10908836	10908836	+	synonymous_variant	Silent	SNP	A	A	T	rs760748929	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	109	0	ENST00000361285.4:c.1509T>A	p.Ile503=	p.I503=	ENST00000361285	NM_199261.2	503	atT/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS13560.2	1509	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCAATAAA	NONE	byFrequency	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Pfam_domain:PF10409,Gene3D:1d5rA02,Superfamily_domains:SSF49562	.	.	ENSP00000355208	.	23/24	.	.	.	.	.	.	.	.	rs760748929	23/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,synonymous_variant,p.%3D,ENST00000361285,;TPTE,synonymous_variant,p.%3D,ENST00000342420,;TPTE,synonymous_variant,p.%3D,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	1839	109	68	SUCCESS
TPTE	7179	.	GRCh37	21	10951410	10951410	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	478	138	675	1	ENST00000361285.4:c.302T>A	p.Leu101Gln	p.L101Q	ENST00000361285	NM_199261.2	101	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS13560.2	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCAGGAAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	.	.	ENSP00000355208	.	10/24	.	.	.	.	.	.	.	.	.	10/24	PASS	ENST00000361285	Transcript	.	.	ENSG00000166157	12023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TPTE_HUMAN	TPTE	HGNC	.	.	UPI000016A18A	SNV	TPTE,missense_variant,p.Leu101Gln,ENST00000361285,;TPTE,missense_variant,p.Leu83Gln,ENST00000328758,;TPTE,missense_variant,p.Leu63Gln,ENST00000342420,;TPTE,missense_variant,p.Leu83Gln,ENST00000298232,;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;	632	677	616	SUCCESS
USP25	29761	.	GRCh37	21	17196476	17196476	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	14	25	0	ENST00000285679.6:c.1199A>G	p.Tyr400Cys	p.Y400C	ENST00000285679	NM_013396.3	400	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33515.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATATTTGG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000285679	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000285679	Transcript	.	.	ENSG00000155313	12624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	UBP25_HUMAN	USP25	HGNC	Q9HA22_HUMAN	.	UPI000002B680	SNV	USP25,missense_variant,p.Tyr400Cys,ENST00000400183,;USP25,missense_variant,p.Tyr400Cys,ENST00000285679,;USP25,missense_variant,p.Tyr400Cys,ENST00000285681,;USP25,intron_variant,,ENST00000351097,;USP25,upstream_gene_variant,,ENST00000453553,;	1568	25	26	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19732132	19732132	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	79	172	0	ENST00000284885.3:c.822A>G	p.Thr274=	p.T274=	ENST00000284885	NM_002772.2	274	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS13571.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATATGTATT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000284885	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,synonymous_variant,p.%3D,ENST00000284885,;	856	172	172	SUCCESS
NCAM2	4685	.	GRCh37	21	22782650	22782650	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	133	330	0	ENST00000400546.1:c.1252A>G	p.Ile418Val	p.I418V	ENST00000400546	NM_004540.3	418	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS42910.1	1252	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTATCAAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000383392	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(1)	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,missense_variant,p.Ile418Val,ENST00000400546,;NCAM2,missense_variant,p.Ile276Val,ENST00000284894,;	1501	330	297	SUCCESS
JAM2	58494	.	GRCh37	21	27062262	27062262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	19	31	0	ENST00000480456.1:c.218T>A	p.Val73Asp	p.V73D	ENST00000480456	NM_001270407.1	73	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS58787.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTCTACT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF79,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383376	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000400532	Transcript	.	.	ENSG00000154721	14686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	JAM2_HUMAN	JAM2	HGNC	.	.	UPI0000035970	SNV	JAM2,missense_variant,p.Val73Asp,ENST00000400532,;JAM2,missense_variant,p.Val73Asp,ENST00000480456,;JAM2,missense_variant,p.Val73Asp,ENST00000312957,;JAM2,intron_variant,,ENST00000425221,;JAM2,missense_variant,p.Val29Asp,ENST00000460679,;FDX1P2,upstream_gene_variant,,ENST00000450769,;	768	31	24	SUCCESS
APP	351	.	GRCh37	21	27277345	27277345	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	93	0	ENST00000346798.3:c.1954A>G	p.Thr652Ala	p.T652A	ENST00000346798	NM_000484.3	652	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13576.1	1954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGTGGTCA	NONE	.	.	hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103	.	.	ENSP00000284981	.	15/18	.	.	.	.	.	.	.	.	COSM1029639	15/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	tolerated(0.51)	1	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,missense_variant,p.Thr628Ala,ENST00000440126,;APP,missense_variant,p.Thr596Ala,ENST00000359726,;APP,missense_variant,p.Thr633Ala,ENST00000357903,;APP,missense_variant,p.Thr652Ala,ENST00000346798,;APP,missense_variant,p.Thr521Ala,ENST00000354192,;APP,missense_variant,p.Thr596Ala,ENST00000439274,;APP,missense_variant,p.Thr577Ala,ENST00000348990,;APP,missense_variant,p.Thr542Ala,ENST00000448388,;APP,intron_variant,,ENST00000456209,;APP,intron_variant,,ENST00000358918,;	1988	93	91	SUCCESS
ADAMTS5	11096	.	GRCh37	21	28306845	28306845	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	103	0	ENST00000284987.5:c.1629A>T	p.Gly543=	p.G543=	ENST00000284987	NM_007038.3	543	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13579.1	1629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTTCCACA	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,SMART_domains:SM00608	.	.	ENSP00000284987	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000284987	Transcript	.	.	ENSG00000154736	221	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS5_HUMAN	ADAMTS5	HGNC	.	.	UPI00001AEAC2	SNV	ADAMTS5,synonymous_variant,p.%3D,ENST00000284987,;AP001601.2,intron_variant,,ENST00000426771,;	1751	103	78	SUCCESS
KRTAP11-1	337880	.	GRCh37	21	32253723	32253723	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	42	105	0	ENST00000332378.4:c.121T>G	p.Cys41Gly	p.C41G	ENST00000332378	NM_175858.2	41	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS13608.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACAGATGC	NONE	.	.	hmmpanther:PTHR19051:SF14,hmmpanther:PTHR19051,Pfam_domain:PF05287	.	.	ENSP00000330720	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332378	Transcript	.	.	ENSG00000182591	18922	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.26)	.	KR111_HUMAN	KRTAP11-1	HGNC	.	.	UPI000003B46F	SNV	KRTAP11-1,missense_variant,p.Cys41Gly,ENST00000332378,;	152	105	99	SUCCESS
MIS18A	54069	.	GRCh37	21	33651066	33651066	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767869159	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	14	0	ENST00000290130.3:c.260G>A	p.Gly87Asp	p.G87D	ENST00000290130	NM_018944.2	87	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS13611.1	260	RADIA|VARSCANS	.	GGCAGCCGGAG	NONE	.	.	hmmpanther:PTHR16431,hmmpanther:PTHR16431:SF2,Pfam_domain:PF03226	.	.	ENSP00000290130	.	1/5	.	.	.	.	.	.	.	.	rs767869159	1/5	PASS	ENST00000290130	Transcript	.	.	ENSG00000159055	1286	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.39)	.	deleterious(0.02)	.	MS18A_HUMAN	MIS18A	HGNC	.	.	UPI0000000C0D	SNV	MIS18A,missense_variant,p.Gly87Asp,ENST00000290130,;MIS18A-AS1,intron_variant,,ENST00000453549,;	315	14	27	SUCCESS
SETD4	54093	.	GRCh37	21	37408515	37408515	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	93	0	ENST00000332131.4:c.1223T>C	p.Ile408Thr	p.I408T	ENST00000332131	NM_017438.3	408	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS13640.1	1223	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTATCAGG	NONE	.	.	PIRSF_domain:PIRSF027158,Pfam_domain:PF09273,hmmpanther:PTHR13271:SF18,hmmpanther:PTHR13271	.	.	ENSP00000382163	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000399215	Transcript	.	.	ENSG00000185917	1258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.55)	.	SETD4_HUMAN	SETD4	HGNC	C9JWV5_HUMAN,C9JIU9_HUMAN,C9J256_HUMAN	.	UPI000012868E	SNV	SETD4,missense_variant,p.Ile408Thr,ENST00000399215,;SETD4,missense_variant,p.Ile408Thr,ENST00000332131,;SETD4,missense_variant,p.Ile384Thr,ENST00000399212,;AP000688.1,intron_variant,,ENST00000600312,;SETD4,non_coding_transcript_exon_variant,,ENST00000481477,;SETD4,non_coding_transcript_exon_variant,,ENST00000469482,;SETD4,non_coding_transcript_exon_variant,,ENST00000487297,;	2596	93	81	SUCCESS
DOPEY2	0	.	GRCh37	21	37572789	37572789	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	25	0	ENST00000399151.3:c.481A>T	p.Ile161Phe	p.I161F	ENST00000399151	NM_005128.2	161	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS13643.1	481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGATCTCC	NONE	.	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042,Pfam_domain:PF04118	.	.	ENSP00000382104	.	4/37	.	.	.	.	.	.	.	.	.	4/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.071)	.	tolerated(0.2)	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,missense_variant,p.Ile161Phe,ENST00000399151,;DOPEY2,downstream_gene_variant,,ENST00000270190,;DOPEY2,intron_variant,,ENST00000492760,;	566	25	27	SUCCESS
DOPEY2	0	.	GRCh37	21	37605269	37605269	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751128648	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	68	179	0	ENST00000399151.3:c.2518A>G	p.Ser840Gly	p.S840G	ENST00000399151	NM_005128.2	840	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS13643.1	2518	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGAGCTCT	NONE	byFrequency	.	hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042	.	.	ENSP00000382104	.	15/37	.	.	.	.	.	.	.	.	rs751128648	15/37	PASS	ENST00000399151	Transcript	.	.	ENSG00000142197	1291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.06)	.	DOP2_HUMAN	DOPEY2	HGNC	F8W8U9_HUMAN	.	UPI000013D876	SNV	DOPEY2,missense_variant,p.Ser840Gly,ENST00000399151,;	2603	179	147	SUCCESS
TTC3	7267	.	GRCh37	21	38555158	38555158	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	305	15	385	1	ENST00000354749.2:c.4700A>T	p.Gln1567Leu	p.Q1567L	ENST00000354749		1567	cAa/cTa	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS13651.1	4700	MUTECT|MUSE	.	AATCCAAGAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17550	.	.	ENSP00000381981	.	36/46	.	.	.	.	.	.	.	.	.	36/46	PASS	ENST00000399017	Transcript	.	.	ENSG00000182670	12393	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.933)	.	deleterious(0)	.	TTC3_HUMAN	TTC3	HGNC	E9PMS7_HUMAN,E9PMP8_HUMAN	.	UPI00001B043E	SNV	TTC3,missense_variant,p.Gln1567Leu,ENST00000354749,;TTC3,missense_variant,p.Gln1567Leu,ENST00000355666,;TTC3,missense_variant,p.Gln1567Leu,ENST00000399017,;TTC3-AS1,downstream_gene_variant,,ENST00000424733,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;	7447	387	320	SUCCESS
HMGN1	3150	.	GRCh37	21	40720227	40720227	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	96	0	ENST00000380749.5:c.117A>T	p.Ala39=	p.A39=	ENST00000380749	NM_004965.6	39	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS33559.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGCCTT	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR00925,SMART_domains:SM00527,Pfam_domain:PF01101,hmmpanther:PTHR23087	.	.	ENSP00000370125	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000380749	Transcript	.	.	ENSG00000205581	4984	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMGN1_HUMAN	HMGN1	HGNC	.	.	UPI0000047514	SNV	HMGN1,synonymous_variant,p.%3D,ENST00000380748,;HMGN1,synonymous_variant,p.%3D,ENST00000380749,;HMGN1,synonymous_variant,p.%3D,ENST00000380747,;HMGN1,upstream_gene_variant,,ENST00000361263,;snoU13,upstream_gene_variant,,ENST00000459446,;Y_RNA,downstream_gene_variant,,ENST00000517106,;HMGN1,non_coding_transcript_exon_variant,,ENST00000485550,;HMGN1,non_coding_transcript_exon_variant,,ENST00000489072,;HMGN1,non_coding_transcript_exon_variant,,ENST00000482192,;HMGN1,non_coding_transcript_exon_variant,,ENST00000490032,;HMGN1,non_coding_transcript_exon_variant,,ENST00000479586,;HMGN1,non_coding_transcript_exon_variant,,ENST00000471260,;HMGN1,non_coding_transcript_exon_variant,,ENST00000491183,;HMGN1,synonymous_variant,p.%3D,ENST00000419378,;HMGN1,synonymous_variant,p.%3D,ENST00000443046,;HMGN1,synonymous_variant,p.%3D,ENST00000288344,;HMGN1,synonymous_variant,p.%3D,ENST00000436324,;HMGN1,synonymous_variant,p.%3D,ENST00000431390,;HMGN1,non_coding_transcript_exon_variant,,ENST00000492280,;HMGN1,non_coding_transcript_exon_variant,,ENST00000464078,;HMGN1,non_coding_transcript_exon_variant,,ENST00000482733,;HMGN1,non_coding_transcript_exon_variant,,ENST00000486741,;HMGN1,non_coding_transcript_exon_variant,,ENST00000463631,;	400	96	74	SUCCESS
PRDM15	63977	.	GRCh37	21	43281737	43281737	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs745523567	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	72	0	ENST00000269844.3:c.826A>C	p.Met276Leu	p.M276L	ENST00000269844	NM_022115.3	276	Atg/Ctg	0	.	.	.	.	.	G	M/L	protein_coding	YES	CCDS13676.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCATGCTGG	NONE	.	.	.	.	.	ENSP00000269844	.	7/31	.	.	.	.	.	.	.	.	rs745523567	7/31	PASS	ENST00000269844	Transcript	.	.	ENSG00000141956	13999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.04)	.	PRD15_HUMAN	PRDM15	HGNC	.	.	UPI0000456FFA	SNV	PRDM15,missense_variant,p.Met276Leu,ENST00000269844,;PRDM15,intron_variant,,ENST00000422911,;PRDM15,intron_variant,,ENST00000398548,;PRDM15,intron_variant,,ENST00000538201,;PRDM15,upstream_gene_variant,,ENST00000447207,;PRDM15,missense_variant,p.Met276Leu,ENST00000433067,;PRDM15,intron_variant,,ENST00000449395,;PRDM15,intron_variant,,ENST00000447016,;PRDM15,intron_variant,,ENST00000441787,;	937	72	56	SUCCESS
KRTAP10-4	386672	.	GRCh37	21	45994365	45994365	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs782335154	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	32	0	ENST00000400374.3:c.730T>C	p.Ser244Pro	p.S244P	ENST00000400374	NM_198687.1	244	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS42957.1	730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCTCTGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF19	.	.	ENSP00000383225	.	1/1	.	.	.	.	.	.	.	.	rs782335154	1/1	PASS	ENST00000400374	Transcript	.	.	ENSG00000215454	20521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.13)	.	KR104_HUMAN	KRTAP10-4	HGNC	.	.	UPI000021C43B	SNV	KRTAP10-4,missense_variant,p.Ser244Pro,ENST00000400374,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-5,downstream_gene_variant,,ENST00000400372,;TSPEAR,upstream_gene_variant,,ENST00000397916,;	760	32	33	SUCCESS
TSPEAR	54084	.	GRCh37	21	46020504	46020504	+	intron_variant	Intron	SNP	T	T	G	rs58444938	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	25	0	ENST00000323084.4:c.83-32615A>C		p.*28*	ENST00000323084	NM_001272037.1			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	TCTCCTCCAGT	NONE	byFrequency	.	.	.	.	ENSP00000369445	.	1/1	.	.	.	.	.	.	.	.	rs58444938	1/1	PASS	ENST00000380102	Transcript	.	.	ENSG00000205441	22970	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR107_HUMAN	KRTAP10-7	HGNC	.	.	UPI000036709B	SNV	KRTAP10-7,5_prime_UTR_variant,,ENST00000380102,;TSPEAR,intron_variant,,ENST00000323084,;AL773602.1,upstream_gene_variant,,ENST00000339001,;	8	25	11	SUCCESS
KRTAP12-2	353323	.	GRCh37	21	46086475	46086475	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1555944774	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	83	0	ENST00000360770.3:c.329G>T	p.Cys110Phe	p.C110F	ENST00000360770	NM_181684.2	110	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS42965.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCAGCTC	NONE	.	.	hmmpanther:PTHR23262:SF35,hmmpanther:PTHR23262,Pfam_domain:PF05287	.	.	ENSP00000354001	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360770	Transcript	.	.	ENSG00000221864	20530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	KR122_HUMAN	KRTAP12-2	HGNC	.	.	UPI00001A95BA	SNV	KRTAP12-2,missense_variant,p.Cys110Phe,ENST00000360770,;TSPEAR,intron_variant,,ENST00000323084,;	370	83	63	SUCCESS
SSR4P1	728039	.	GRCh37	21	46491927	46491927	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	12	31	0	ENST00000429427.1:n.688A>T		p.*230*	ENST00000429427				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33589.1	.	MUTECT|MUSE	.	TGATCTCAGCA	NONE	.	2566	.	.	.	ENSP00000441897	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539173	Transcript	.	.	ENSG00000197381	226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RED1_HUMAN	ADARB1	HGNC	C9JUP4_HUMAN	.	UPI0000133622	SNV	ADARB1,upstream_gene_variant,,ENST00000437626,;ADARB1,upstream_gene_variant,,ENST00000539173,;AP001579.1,downstream_gene_variant,,ENST00000599569,;ADARB1,upstream_gene_variant,,ENST00000389863,;ADARB1,upstream_gene_variant,,ENST00000348831,;SSR4P1,non_coding_transcript_exon_variant,,ENST00000429427,;ADARB1,upstream_gene_variant,,ENST00000462214,;ADARB1,upstream_gene_variant,,ENST00000460734,;ADARB1,upstream_gene_variant,,ENST00000389861,;ADARB1,upstream_gene_variant,,ENST00000496664,;ADARB1,upstream_gene_variant,,ENST00000492414,;SSR4P1,non_coding_transcript_exon_variant,,ENST00000415143,;	.	31	12	SUCCESS
COL6A2	1292	.	GRCh37	21	47552138	47552138	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	20	36	0	ENST00000300527.4:c.2732T>A	p.Leu911Gln	p.L911Q	ENST00000300527	NM_001849.3	911	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS13728.1	2732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTGAACT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF119,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000300527	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.09)	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	SNV	COL6A2,missense_variant,p.Leu911Gln,ENST00000300527,;FTCD,downstream_gene_variant,,ENST00000397746,;COL6A2,downstream_gene_variant,,ENST00000397763,;FTCD,downstream_gene_variant,,ENST00000359679,;COL6A2,downstream_gene_variant,,ENST00000310645,;FTCD,downstream_gene_variant,,ENST00000397743,;FTCD,downstream_gene_variant,,ENST00000291670,;FTCD,downstream_gene_variant,,ENST00000355384,;FTCD,downstream_gene_variant,,ENST00000446405,;COL6A2,downstream_gene_variant,,ENST00000357838,;COL6A2,downstream_gene_variant,,ENST00000409416,;FTCD,downstream_gene_variant,,ENST00000397748,;FTCD,downstream_gene_variant,,ENST00000460011,;FTCD,downstream_gene_variant,,ENST00000498355,;FTCD,downstream_gene_variant,,ENST00000483568,;	2836	36	22	SUCCESS
MCM3AP	8888	.	GRCh37	21	47686993	47686993	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs771995876	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	31	91	1	ENST00000291688.1:c.2692A>T	p.Ile898Phe	p.I898F	ENST00000291688	NM_003906.3	898	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS13734.1	2692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGGTAG	NONE	.	.	hmmpanther:PTHR12436:SF18,hmmpanther:PTHR12436,Pfam_domain:PF03399	.	.	ENSP00000380820	.	11/29	.	.	.	.	.	.	.	.	rs771995876	11/29	PASS	ENST00000397708	Transcript	.	.	ENSG00000160294	6946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	deleterious(0.04)	.	GANP_HUMAN	MCM3AP	HGNC	N0GVG8_HUMAN,B3KWZ4_HUMAN	.	UPI000012ED4A	SNV	MCM3AP,missense_variant,p.Ile898Phe,ENST00000291688,;MCM3AP,missense_variant,p.Ile898Phe,ENST00000397708,;MCM3AP,downstream_gene_variant,,ENST00000479557,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;MCM3AP,upstream_gene_variant,,ENST00000496607,;	2947	92	39	SUCCESS
C21orf58	54058	.	GRCh37	21	47735441	47735441	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1302627599	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	75	0	ENST00000291691.7:c.391G>A	p.Asp131Asn	p.D131N	ENST00000291691	NM_058180.3	131	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13735.1	391	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCGTCCG	NONE	.	.	.	.	.	ENSP00000291691	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000291691	Transcript	.	.	ENSG00000160298	1300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.262)	.	tolerated(0.17)	.	CU058_HUMAN	C21orf58	HGNC	H7C1T9_HUMAN	.	UPI0000231C71	SNV	C21orf58,missense_variant,p.Asp48Asn,ENST00000397685,;C21orf58,missense_variant,p.Asp93Asn,ENST00000417060,;C21orf58,missense_variant,p.Asp131Asn,ENST00000291691,;C21orf58,5_prime_UTR_variant,,ENST00000397679,;C21orf58,5_prime_UTR_variant,,ENST00000445935,;C21orf58,5_prime_UTR_variant,,ENST00000397682,;C21orf58,5_prime_UTR_variant,,ENST00000397680,;C21orf58,5_prime_UTR_variant,,ENST00000397683,;C21orf58,upstream_gene_variant,,ENST00000472607,;C21orf58,missense_variant,p.Asp93Asn,ENST00000491666,;C21orf58,non_coding_transcript_exon_variant,,ENST00000475776,;	1528	75	31	SUCCESS
GNB1L	54584	.	GRCh37	22	19808139	19808139	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	33	102	0	ENST00000329517.6:c.236A>T	p.Gln79Leu	p.Q79L	ENST00000329517	NM_053004.2	79	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13768.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTGGGGC	NONE	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19854,PROSITE_profiles:PS50294	.	.	ENSP00000331313	.	4/8	.	.	.	.	.	.	.	.	COSM1130505	4/8	PASS	ENST00000329517	Transcript	.	.	ENSG00000185838	4397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.045)	.	tolerated(0.25)	1	GNB1L_HUMAN	GNB1L	HGNC	.	.	UPI00000474FA	SNV	GNB1L,missense_variant,p.Gln79Leu,ENST00000403325,;GNB1L,missense_variant,p.Gln79Leu,ENST00000405009,;GNB1L,missense_variant,p.Gln79Leu,ENST00000329517,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000481086,;GNB1L,intron_variant,,ENST00000460402,;	473	102	81	SUCCESS
PI4KA	5297	.	GRCh37	22	21088929	21088929	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	23	75	0	ENST00000255882.6:c.3742-88A>T		p.*1248*	ENST00000255882	NM_058004.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33603.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACGTGCTCA	NONE	.	.	.	.	.	ENSP00000255882	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000255882	Transcript	.	.	ENSG00000241973	8983	.	.	MODIFIER	32/54	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PI4KA	HGNC	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN	.	UPI0000E06BD6	SNV	PI4KA,5_prime_UTR_variant,,ENST00000414196,;PI4KA,intron_variant,,ENST00000572273,;PI4KA,intron_variant,,ENST00000255882,;PI4KA,intron_variant,,ENST00000477368,;PI4KA,non_coding_transcript_exon_variant,,ENST00000477245,;PI4KA,intron_variant,,ENST00000494113,;PI4KA,upstream_gene_variant,,ENST00000462210,;	.	75	71	SUCCESS
P2RX6	9127	.	GRCh37	22	21380894	21380894	+	synonymous_variant	Silent	SNP	C	C	A	rs754106066	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	88	0	ENST00000413302.2:c.1314C>A	p.Ser438=	p.S438=	ENST00000413302		438	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13788.2	1314	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCGGGAG	NONE	byFrequency	.	.	.	.	ENSP00000416193	.	12/12	.	.	.	.	.	.	.	.	rs754106066	12/12	PASS	ENST00000413302	Transcript	.	.	ENSG00000099957	8538	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RX6_HUMAN	P2RX6	HGNC	.	.	UPI000013C698	SNV	P2RX6,synonymous_variant,p.%3D,ENST00000401443,;P2RX6,synonymous_variant,p.%3D,ENST00000413302,;P2RX6,synonymous_variant,p.%3D,ENST00000336296,;P2RX6,synonymous_variant,p.%3D,ENST00000443995,;P2RX6,3_prime_UTR_variant,,ENST00000402329,;SLC7A4,downstream_gene_variant,,ENST00000403586,;SLC7A4,downstream_gene_variant,,ENST00000382932,;SLC7A4,downstream_gene_variant,,ENST00000426145,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6,3_prime_UTR_variant,,ENST00000442475,;P2RX6,3_prime_UTR_variant,,ENST00000432930,;P2RX6,3_prime_UTR_variant,,ENST00000422210,;P2RX6,downstream_gene_variant,,ENST00000487342,;P2RX6,downstream_gene_variant,,ENST00000452228,;	1462	88	63	SUCCESS
IGLV8-61	28774	.	GRCh37	22	22453392	22453392	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs369521636	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	63	0	ENST00000390283.2:c.138T>A	p.Cys46Ter	p.C46*	ENST00000390283		46	tgT/tgA	0	A:0	.	.	.	.	A	C/*	IG_V_gene	YES	.	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTGGCTT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF156,hmmpanther:PTHR23267,PROSITE_profiles:PS50835	.	A:0.0002	ENSP00000374818	.	2/2	.	.	.	.	.	.	.	.	rs369521636	2/2	PASS	ENST00000390283	Transcript	.	.	ENSG00000211638	5931	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGLV8-61	HGNC	Q5NV62_HUMAN	.	UPI0001611016	SNV	IGLV8-61,stop_gained,p.Cys46Ter,ENST00000390283,;LL22NC03-88E1.17,upstream_gene_variant,,ENST00000444224,;	184	63	56	SUCCESS
PRAME	23532	.	GRCh37	22	22892325	22892325	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	68	0	ENST00000398741.1:c.776T>C	p.Met259Thr	p.M259T	ENST00000398741	NM_206955.1	259	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS13801.1	776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCATCTGG	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000445675	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000543184	Transcript	.	.	ENSG00000185686	9336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.01)	.	PRAME_HUMAN	PRAME	HGNC	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN	.	UPI0000000DDA	SNV	PRAME,missense_variant,p.Met259Thr,ENST00000398743,;PRAME,missense_variant,p.Met259Thr,ENST00000398741,;PRAME,missense_variant,p.Met259Thr,ENST00000402697,;PRAME,missense_variant,p.Met259Thr,ENST00000543184,;PRAME,missense_variant,p.Met243Thr,ENST00000539862,;PRAME,missense_variant,p.Met243Thr,ENST00000424204,;PRAME,missense_variant,p.Met259Thr,ENST00000405655,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	1639	68	76	SUCCESS
PRAME	23532	.	GRCh37	22	22899317	22899317	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs535551972	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	71	1	ENST00000398741.1:c.-65A>G		p.*22*	ENST00000398741	NM_206955.1			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS13801.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTGTTGCCA	NONE	by1000G	.	.	C:0.001	.	ENSP00000445675	C:0	2/5	.	.	.	.	.	.	.	.	rs535551972	2/5	PASS	ENST00000543184	Transcript	.	C:0.0002	ENSG00000185686	9336	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	PRAME_HUMAN	PRAME	HGNC	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN	.	UPI0000000DDA	SNV	PRAME,5_prime_UTR_variant,,ENST00000398743,;PRAME,5_prime_UTR_variant,,ENST00000420709,;PRAME,5_prime_UTR_variant,,ENST00000406503,;PRAME,5_prime_UTR_variant,,ENST00000398741,;PRAME,5_prime_UTR_variant,,ENST00000402697,;PRAME,5_prime_UTR_variant,,ENST00000439106,;PRAME,5_prime_UTR_variant,,ENST00000403441,;PRAME,5_prime_UTR_variant,,ENST00000543184,;PRAME,5_prime_UTR_variant,,ENST00000405655,;PRAME,upstream_gene_variant,,ENST00000438888,;PRAME,upstream_gene_variant,,ENST00000539862,;PRAME,upstream_gene_variant,,ENST00000424204,;LL22NC03-63E9.3,upstream_gene_variant,,ENST00000407120,;PRAME,intron_variant,,ENST00000476336,;PRAME,upstream_gene_variant,,ENST00000485532,;PRAME,5_prime_UTR_variant,,ENST00000442481,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;	799	72	70	SUCCESS
IGLV2-14	28815	.	GRCh37	22	23101689	23101689	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs528248214	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	66	0	ENST00000390312.2:c.343A>T	p.Ser115Cys	p.S115C	ENST00000390312		115	Agc/Tgc	0	.	G:0.0015	.	G:0	.	T	S/C	IG_V_gene	YES	.	343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCAGCAGC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF138,SMART_domains:SM00409,Superfamily_domains:SSF48726	G:0	.	ENSP00000374847	G:0	2/2	.	.	.	.	.	.	.	.	rs528248214	2/2	PASS	ENST00000390312	Transcript	.	G:0.0004	ENSG00000211666	5888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.505)	G:0	deleterious_low_confidence(0)	.	.	IGLV2-14	HGNC	Q5NV63_HUMAN	.	UPI000173A2CE	SNV	IGLV2-14,missense_variant,p.Ser115Cys,ENST00000390312,;D87015.1,downstream_gene_variant,,ENST00000385100,;IGLV3-15,downstream_gene_variant,,ENST00000518356,;IGLV3-13,upstream_gene_variant,,ENST00000518475,;	384	66	51	SUCCESS
IGLL1	3543	.	GRCh37	22	23922353	23922353	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	13	0	ENST00000330377.2:c.25G>T	p.Gly9Cys	p.G9C	ENST00000330377	NM_020070.3	9	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS13809.1	25	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCCCCCT	NONE	.	.	.	.	.	ENSP00000329312	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000330377	Transcript	.	.	ENSG00000128322	5870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.927)	.	deleterious_low_confidence(0)	.	IGLL1_HUMAN	IGLL1	HGNC	.	.	UPI0000119C23	SNV	IGLL1,missense_variant,p.Gly9Cys,ENST00000330377,;IGLL1,missense_variant,p.Gly9Cys,ENST00000438703,;IGLL1,missense_variant,p.Gly9Cys,ENST00000249053,;KB-208E9.1,downstream_gene_variant,,ENST00000608615,;	143	13	18	SUCCESS
SUSD2	56241	.	GRCh37	22	24584255	24584255	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	32	0	ENST00000358321.3:c.2404G>A	p.Ala802Thr	p.A802T	ENST00000358321	NM_019601.3	802	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS13824.1	2404	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTTGCGCTC	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000351075	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000358321	Transcript	.	.	ENSG00000099994	30667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.69)	.	SUSD2_HUMAN	SUSD2	HGNC	.	.	UPI000006CC92	SNV	SUSD2,missense_variant,p.Ala802Thr,ENST00000358321,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	2665	32	28	SUCCESS
GGT5	2687	.	GRCh37	22	24629889	24629889	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs768268831	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	49	92	0	ENST00000327365.4:c.257T>A	p.Met86Lys	p.M86K	ENST00000327365	NM_001099781.1	86	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS42990.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCATGCTC	NONE	byFrequency	.	Prints_domain:PR01210,Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF5	.	.	ENSP00000381340	.	2/12	.	.	.	.	.	.	.	.	rs768268831	2/12	PASS	ENST00000398292	Transcript	.	.	ENSG00000099998	4260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	deleterious(0.02)	.	GGT5_HUMAN	GGT5	HGNC	.	.	UPI00003B5CB9	SNV	GGT5,missense_variant,p.Met86Lys,ENST00000398292,;GGT5,missense_variant,p.Met86Lys,ENST00000263112,;GGT5,missense_variant,p.Met86Lys,ENST00000327365,;GGT5,intron_variant,,ENST00000424217,;GGT5,intron_variant,,ENST00000418439,;	591	92	103	SUCCESS
TMEM211	255349	.	GRCh37	22	25334135	25334135	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	30	0	ENST00000423535.1:c.321A>T	p.Pro107=	p.P107=	ENST00000423535		107	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS33624.1	108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTGGCAT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12489:SF19,hmmpanther:PTHR12489,Pfam_domain:PF10242	.	.	ENSP00000385494	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000407886	Transcript	.	.	ENSG00000206069	33725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM211_HUMAN	TMEM211	HGNC	.	.	UPI0000160696	SNV	TMEM211,synonymous_variant,p.%3D,ENST00000423535,;TMEM211,synonymous_variant,p.%3D,ENST00000407886,;TMEM211,synonymous_variant,p.%3D,ENST00000382744,;	361	30	26	SUCCESS
TMEM211	255349	.	GRCh37	22	25334227	25334227	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs112354981	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	23	0	ENST00000423535.1:c.229T>A	p.Trp77Arg	p.W77R	ENST00000423535		77	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS33624.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGCCTC	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR12489:SF19,hmmpanther:PTHR12489	.	.	ENSP00000385494	.	3/4	.	.	.	.	.	.	.	.	rs112354981	3/4	PASS	ENST00000407886	Transcript	.	.	ENSG00000206069	33725	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TM211_HUMAN	TMEM211	HGNC	.	.	UPI0000160696	SNV	TMEM211,missense_variant,p.Trp77Arg,ENST00000423535,;TMEM211,missense_variant,p.Trp6Arg,ENST00000407886,;TMEM211,missense_variant,p.Trp6Arg,ENST00000382744,;	269	23	31	SUCCESS
KIAA1671	85379	.	GRCh37	22	25581013	25581013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	130	0	ENST00000358431.3:c.5269A>G	p.Ser1757Gly	p.S1757G	ENST00000358431	NM_001145206.1	1757	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS46676.1	5269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGAGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22042:SF3,hmmpanther:PTHR22042,Pfam_domain:PF15327	.	.	ENSP00000351207	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000358431	Transcript	.	.	ENSG00000197077	29345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.082)	.	deleterious(0)	.	K1671_HUMAN	KIAA1671	HGNC	.	.	UPI00002073DC	SNV	KIAA1671,missense_variant,p.Ser264Gly,ENST00000401395,;KIAA1671,missense_variant,p.Ser1757Gly,ENST00000406486,;KIAA1671,missense_variant,p.Ser1757Gly,ENST00000358431,;KIAA1671,non_coding_transcript_exon_variant,,ENST00000494730,;	5295	130	100	SUCCESS
MYO18B	84700	.	GRCh37	22	26176138	26176138	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	26	0	ENST00000536101.1:c.2184A>C	p.Thr728=	p.T728=	ENST00000536101		728	acA/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS54507.1	2184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTACAGGCCG	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000334563	.	9/44	.	.	.	.	.	.	.	.	.	9/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,synonymous_variant,p.%3D,ENST00000335473,;MYO18B,synonymous_variant,p.%3D,ENST00000407587,;MYO18B,synonymous_variant,p.%3D,ENST00000536101,;MYO18B,synonymous_variant,p.%3D,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	2434	26	26	SUCCESS
MYO18B	84700	.	GRCh37	22	26423048	26423048	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	55	0	ENST00000536101.1:c.7108A>T	p.Thr2370Ser	p.T2370S	ENST00000536101		2370	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS54507.1	7108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCACACCC	NONE	.	.	.	.	.	ENSP00000334563	.	43/44	.	.	.	.	.	.	.	.	.	43/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.26)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Thr2370Ser,ENST00000335473,;MYO18B,missense_variant,p.Thr320Ser,ENST00000543971,;MYO18B,missense_variant,p.Thr2371Ser,ENST00000407587,;MYO18B,missense_variant,p.Thr2370Ser,ENST00000536101,;MYO18B,missense_variant,p.Thr12Ser,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	7358	55	53	SUCCESS
SEZ6L	23544	.	GRCh37	22	26688929	26688929	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	140	0	ENST00000248933.6:c.652A>T	p.Arg218Trp	p.R218W	ENST00000248933		218	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS13833.1	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAGGCCA	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81	.	.	ENSP00000248933	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000248933	Transcript	.	.	ENSG00000100095	10763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.447)	.	deleterious(0.01)	.	SE6L1_HUMAN	SEZ6L	HGNC	.	.	UPI0000136779	SNV	SEZ6L,missense_variant,p.Arg218Trp,ENST00000529632,;SEZ6L,missense_variant,p.Arg218Trp,ENST00000248933,;SEZ6L,missense_variant,p.Arg218Trp,ENST00000360929,;SEZ6L,missense_variant,p.Arg218Trp,ENST00000343706,;SEZ6L,missense_variant,p.Arg218Trp,ENST00000404234,;SEZ6L,5_prime_UTR_variant,,ENST00000402979,;SEZ6L,5_prime_UTR_variant,,ENST00000403121,;	747	140	73	SUCCESS
HPS4	89781	.	GRCh37	22	26849269	26849269	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	62	0	ENST00000336873.5:c.2057A>C	p.Gln686Pro	p.Q686P	ENST00000336873		686	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS13835.1	2057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGAGGG	NONE	.	.	hmmpanther:PTHR14407:SF9,hmmpanther:PTHR14407	.	.	ENSP00000381213	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000398145	Transcript	.	.	ENSG00000100099	15844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	HPS4_HUMAN	HPS4	HGNC	.	.	UPI000012CB6F	SNV	HPS4,missense_variant,p.Gln686Pro,ENST00000336873,;HPS4,missense_variant,p.Gln699Pro,ENST00000398141,;HPS4,missense_variant,p.Gln681Pro,ENST00000402105,;HPS4,missense_variant,p.Gln686Pro,ENST00000398145,;HPS4,intron_variant,,ENST00000493455,;HPS4,intron_variant,,ENST00000519774,;HPS4,upstream_gene_variant,,ENST00000491142,;HPS4,3_prime_UTR_variant,,ENST00000439453,;HPS4,3_prime_UTR_variant,,ENST00000429411,;HPS4,3_prime_UTR_variant,,ENST00000464362,;HPS4,non_coding_transcript_exon_variant,,ENST00000496385,;HPS4,non_coding_transcript_exon_variant,,ENST00000466781,;HPS4,downstream_gene_variant,,ENST00000485842,;	2674	62	39	SUCCESS
CRYBB1	1414	.	GRCh37	22	26995533	26995533	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	103	0	ENST00000215939.2:c.680A>T	p.Gln227Leu	p.Q227L	ENST00000215939	NM_001887.3	227	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13840.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGACTGCATC	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF12,hmmpanther:PTHR11818,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695	.	.	ENSP00000215939	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000215939	Transcript	.	.	ENSG00000100122	2397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	deleterious(0.02)	.	CRBB1_HUMAN	CRYBB1	HGNC	.	.	UPI000000165D	SNV	CRYBB1,missense_variant,p.Gln227Leu,ENST00000215939,;TPST2,upstream_gene_variant,,ENST00000403880,;	811	103	89	SUCCESS
CRYBA4	1413	.	GRCh37	22	27026355	27026355	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	46	0	ENST00000354760.3:c.495A>T	p.Glu165Asp	p.E165D	ENST00000354760	NM_001886.2	165	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS13841.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAATGCGA	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF19,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695	.	.	ENSP00000346805	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000354760	Transcript	.	.	ENSG00000196431	2396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CRBA4_HUMAN	CRYBA4	HGNC	.	.	UPI0000167B21	SNV	CRYBA4,missense_variant,p.Glu165Asp,ENST00000354760,;CRYBA4,non_coding_transcript_exon_variant,,ENST00000466315,;	530	46	42	SUCCESS
CHEK2	11200	.	GRCh37	22	29130640	29130640	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	31	101	0	ENST00000328354.6:c.70A>T	p.Ser24Cys	p.S24C	ENST00000328354	NM_007194.3	24	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS33629.1	70	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCTGCCAT	NONE	.	.	hmmpanther:PTHR24344,hmmpanther:PTHR24344:SF21,Low_complexity_(Seg):seg	.	.	ENSP00000372023	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000382580	Transcript	.	.	ENSG00000183765	16627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.443)	.	tolerated_low_confidence(0.1)	.	CHK2_HUMAN	CHEK2	HGNC	B7ZBF2_HUMAN	.	UPI000034E4A3	SNV	CHEK2,missense_variant,p.Ser24Cys,ENST00000447421,;CHEK2,missense_variant,p.Ser24Cys,ENST00000404276,;CHEK2,missense_variant,p.Ser24Cys,ENST00000439200,;CHEK2,missense_variant,p.Ser24Cys,ENST00000382580,;CHEK2,missense_variant,p.Ser24Cys,ENST00000382578,;CHEK2,missense_variant,p.Ser24Cys,ENST00000348295,;CHEK2,missense_variant,p.Ser24Cys,ENST00000328354,;CHEK2,missense_variant,p.Ser24Cys,ENST00000405598,;CHEK2,missense_variant,p.Ser24Cys,ENST00000402731,;CHEK2,missense_variant,p.Ser24Cys,ENST00000382566,;CHEK2,missense_variant,p.Ser24Cys,ENST00000382565,;CHEK2,missense_variant,p.Ser24Cys,ENST00000403642,;CHEK2,missense_variant,p.Ser34Cys,ENST00000398017,;CHEK2,5_prime_UTR_variant,,ENST00000544772,;CHEK2,intron_variant,,ENST00000425190,;CHEK2,missense_variant,p.Ser24Cys,ENST00000433728,;CHEK2,missense_variant,p.Ser24Cys,ENST00000417588,;CHEK2,missense_variant,p.Ser24Cys,ENST00000433028,;CHEK2,missense_variant,p.Ser24Cys,ENST00000416671,;CHEK2,missense_variant,p.Ser24Cys,ENST00000448511,;CHEK2,upstream_gene_variant,,ENST00000454252,;	146	101	85	SUCCESS
MORC2	22880	.	GRCh37	22	31333654	31333654	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	36	0	ENST00000397641.3:c.1414T>C	p.Ser472Pro	p.S472P	ENST00000397641		472	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS33636.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGAGAGGT	NONE	.	.	hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337	.	.	ENSP00000215862	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000215862	Transcript	.	.	ENSG00000133422	23573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MORC2_HUMAN	MORC2	HGNC	.	.	UPI000012DB74	SNV	MORC2,missense_variant,p.Ser410Pro,ENST00000215862,;MORC2,missense_variant,p.Ser472Pro,ENST00000397641,;MORC2,upstream_gene_variant,,ENST00000445980,;MORC2,intron_variant,,ENST00000469915,;MORC2,downstream_gene_variant,,ENST00000476152,;	2592	36	43	SUCCESS
BPIFC	254240	.	GRCh37	22	32828474	32828474	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374301481	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	41	100	0	ENST00000300399.3:c.1035G>T	p.Glu345Asp	p.E345D	ENST00000300399	NM_174932.2	345	gaG/gaT	0	T:0	.	.	.	.	A	E/D	protein_coding	YES	CCDS13906.1	1035	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCTCTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF17,Pfam_domain:PF02886,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	T:0.0001	ENSP00000380594	.	11/16	.	.	.	.	.	.	.	.	rs374301481	11/16	PASS	ENST00000397452	Transcript	.	.	ENSG00000184459	16503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	tolerated(0.08)	.	BPIFC_HUMAN	BPIFC	HGNC	F5H3G0_HUMAN	.	UPI0000071B53	SNV	BPIFC,missense_variant,p.Glu69Asp,ENST00000534972,;BPIFC,missense_variant,p.Glu345Asp,ENST00000397452,;BPIFC,missense_variant,p.Glu345Asp,ENST00000300399,;BPIFC,intron_variant,,ENST00000432451,;	1146	100	90	SUCCESS
SYN3	8224	.	GRCh37	22	32914296	32914296	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	18	0	ENST00000358763.2:c.1344T>C	p.Pro448=	p.P448=	ENST00000358763	NM_001135774.1	448	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS13908.1	1344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGAGGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10841	.	.	ENSP00000351614	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000358763	Transcript	.	.	ENSG00000185666	11496	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYN3_HUMAN	SYN3	HGNC	Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN	.	UPI00001365D3	SNV	SYN3,synonymous_variant,p.%3D,ENST00000358763,;SYN3,synonymous_variant,p.%3D,ENST00000332840,;SYN3,non_coding_transcript_exon_variant,,ENST00000459990,;SYN3,non_coding_transcript_exon_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,non_coding_transcript_exon_variant,,ENST00000461446,;	1587	18	21	SUCCESS
MYH9	4627	.	GRCh37	22	36684453	36684453	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	24	0	ENST00000216181.5:c.4777G>T	p.Glu1593Ter	p.E1593*	ENST00000216181	NM_002473.4	1593	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS13927.1	4777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCCGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000216181	.	34/41	.	.	.	.	.	.	.	.	.	34/41	PASS	ENST00000216181	Transcript	.	.	ENSG00000100345	7579	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH9_HUMAN	MYH9	HGNC	Q9UMJ0_HUMAN,B1AH99_HUMAN	.	UPI000012FB80	SNV	MYH9,stop_gained,p.Glu1593Ter,ENST00000216181,;MYH9,upstream_gene_variant,,ENST00000475726,;MYH9,upstream_gene_variant,,ENST00000486218,;	5008	24	25	SUCCESS
EIF3D	8664	.	GRCh37	22	36920644	36920644	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	71	0	ENST00000216190.8:c.305A>T	p.Gln102Leu	p.Q102L	ENST00000216190	NM_003753.3	102	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS13930.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTGGGCA	NONE	.	.	HAMAP:MF_03003,hmmpanther:PTHR12399,Pfam_domain:PF05091,PIRSF_domain:PIRSF016281	.	.	ENSP00000216190	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000216190	Transcript	.	.	ENSG00000100353	3278	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.3)	.	EIF3D_HUMAN	EIF3D	HGNC	B4E1K8_HUMAN,B0QYA8_HUMAN,B0QYA6_HUMAN,B0QYA5_HUMAN,B0QYA4_HUMAN,B0QYA3_HUMAN,A8MWD3_HUMAN	.	UPI000012D306	SNV	EIF3D,missense_variant,p.Gln102Leu,ENST00000457241,;EIF3D,missense_variant,p.Gln102Leu,ENST00000455547,;EIF3D,missense_variant,p.Gln102Leu,ENST00000216190,;EIF3D,missense_variant,p.Gln102Leu,ENST00000405442,;EIF3D,missense_variant,p.Gln102Leu,ENST00000432675,;EIF3D,missense_variant,p.Gln102Leu,ENST00000402116,;EIF3D,intron_variant,,ENST00000541106,;EIF3D,downstream_gene_variant,,ENST00000496875,;	676	71	53	SUCCESS
ELFN2	114794	.	GRCh37	22	37769351	37769351	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	47	0	ENST00000402918.2:c.2224A>T	p.Thr742Ser	p.T742S	ENST00000402918	NM_052906.3	742	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS33642.1	2224	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGTGGAGT	NONE	.	.	.	.	.	ENSP00000385277	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000402918	Transcript	.	.	ENSG00000166897	29396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.48)	.	PPR29_HUMAN	ELFN2	HGNC	.	.	UPI000004E87D	SNV	ELFN2,missense_variant,p.Thr742Ser,ENST00000402918,;RP1-63G5.5,intron_variant,,ENST00000430883,;RP1-63G5.5,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000424973,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000451509,;	3010	47	39	SUCCESS
MICALL1	85377	.	GRCh37	22	38318312	38318312	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	18	0	ENST00000215957.6:c.903C>A	p.Pro301=	p.P301=	ENST00000215957	NM_033386.3	301	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS13961.1	903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCCACCCC	NONE	.	.	hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33	.	.	ENSP00000215957	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000215957	Transcript	.	.	ENSG00000100139	29804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MILK1_HUMAN	MICALL1	HGNC	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN	.	UPI000000DCAE	SNV	MICALL1,synonymous_variant,p.%3D,ENST00000215957,;MICALL1,upstream_gene_variant,,ENST00000454685,;MICALL1,downstream_gene_variant,,ENST00000445494,;MICALL1,upstream_gene_variant,,ENST00000402631,;MICALL1,downstream_gene_variant,,ENST00000489812,;	1029	18	20	SUCCESS
POLR2F	5435	.	GRCh37	22	38363500	38363500	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	34	0	ENST00000442738.2:c.294-132A>G		p.*98*	ENST00000442738	NM_021974.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13963.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TACAAAGTACA	NONE	.	.	.	.	.	ENSP00000403852	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000442738	Transcript	.	.	ENSG00000100142	9193	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPAB2_HUMAN	POLR2F	HGNC	U3KQS8_HUMAN	.	UPI00001345E0	SNV	POLR2F,3_prime_UTR_variant,,ENST00000606538,;POLR2F,intron_variant,,ENST00000442738,;POLR2F,intron_variant,,ENST00000407936,;POLR2F,intron_variant,,ENST00000492213,;POLR2F,intron_variant,,ENST00000470701,;POLR2F,intron_variant,,ENST00000405557,;SOX10,downstream_gene_variant,,ENST00000360880,;POLR2F,downstream_gene_variant,,ENST00000488684,;POLR2F,downstream_gene_variant,,ENST00000460648,;SOX10,downstream_gene_variant,,ENST00000396884,;SOX10,downstream_gene_variant,,ENST00000446929,;POLR2F,intron_variant,,ENST00000484894,;POLR2F,intron_variant,,ENST00000443002,;POLR2F,intron_variant,,ENST00000483713,;	.	34	24	SUCCESS
SUN2	25777	.	GRCh37	22	39137564	39137564	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	29	0	ENST00000405510.1:c.1081G>A	p.Ala361Thr	p.A361T	ENST00000405510	NM_001199580.1	361	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS56231.1	1144	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCAGACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911	.	.	ENSP00000385616	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000405018	Transcript	.	.	ENSG00000100242	14210	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.82)	.	SUN2_HUMAN	SUN2	HGNC	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN	.	UPI0001611146	SNV	SUN2,missense_variant,p.Ala382Thr,ENST00000405018,;SUN2,missense_variant,p.Ala361Thr,ENST00000405510,;SUN2,missense_variant,p.Ala361Thr,ENST00000406622,;SUN2,missense_variant,p.Ala361Thr,ENST00000216064,;SUN2,missense_variant,p.Ala350Thr,ENST00000411587,;SUN2,downstream_gene_variant,,ENST00000430185,;GTPBP1,downstream_gene_variant,,ENST00000489527,;SUN2,downstream_gene_variant,,ENST00000438058,;SUN2,upstream_gene_variant,,ENST00000455125,;GTPBP1,downstream_gene_variant,,ENST00000458073,;RP3-508I15.14,intron_variant,,ENST00000416406,;RP3-508I15.19,downstream_gene_variant,,ENST00000418803,;RP3-508I15.18,downstream_gene_variant,,ENST00000420118,;RP3-508I15.21,upstream_gene_variant,,ENST00000609212,;RP3-508I15.20,upstream_gene_variant,,ENST00000609428,;RP3-508I15.22,upstream_gene_variant,,ENST00000607991,;SUN2,non_coding_transcript_exon_variant,,ENST00000477262,;SUN2,non_coding_transcript_exon_variant,,ENST00000469086,;SUN2,non_coding_transcript_exon_variant,,ENST00000464202,;SUN2,upstream_gene_variant,,ENST00000470642,;	1418	29	17	SUCCESS
APOBEC3D	140564	.	GRCh37	22	39421150	39421150	+	synonymous_variant	Silent	SNP	A	A	C	rs1375897752	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	95	0	ENST00000216099.8:c.286A>C	p.Arg96=	p.R96=	ENST00000216099	NM_152426.3	96	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46709.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACAGGCGC	NONE	.	.	hmmpanther:PTHR13857:SF24,hmmpanther:PTHR13857,PROSITE_patterns:PS00903,Pfam_domain:PF08210,Superfamily_domains:SSF53927	.	.	ENSP00000216099	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000216099	Transcript	.	.	ENSG00000243811	17354	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABC3D_HUMAN	APOBEC3D	HGNC	B2CML4_HUMAN	.	UPI000006D7ED	SNV	APOBEC3D,synonymous_variant,p.%3D,ENST00000381568,;APOBEC3D,synonymous_variant,p.%3D,ENST00000216099,;APOBEC3D,intron_variant,,ENST00000427494,;APOBEC3C,downstream_gene_variant,,ENST00000361441,;	693	96	72	SUCCESS
TTLL1	25809	.	GRCh37	22	43459928	43459928	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	32	93	0	ENST00000266254.7:c.639-1G>T		p.X213_splice	ENST00000266254	NM_012263.4	213		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14043.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACCTAGGA	NONE	.	.	.	.	.	ENSP00000266254	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266254	Transcript	.	.	ENSG00000100271	1312	.	.	HIGH	6/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL1_HUMAN	TTLL1	HGNC	.	.	UPI00001377A7	SNV	TTLL1,splice_acceptor_variant,,ENST00000266254,;TTLL1,splice_acceptor_variant,,ENST00000331018,;TTLL1,splice_acceptor_variant,,ENST00000440761,;TTLL1,splice_acceptor_variant,,ENST00000439248,;	.	93	74	SUCCESS
TSPO	706	.	GRCh37	22	43555325	43555325	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	33	0	ENST00000329563.4:c.81C>T	p.His27=	p.H27=	ENST00000329563	NM_001256530.1	27	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS33661.1	81	RADIA|VARSCANS	.	GTCCACGGCGA	NONE	.	.	PIRSF_domain:PIRSF005859,Pfam_domain:PF03073,hmmpanther:PTHR10057,hmmpanther:PTHR10057:SF2	.	.	ENSP00000328973	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000329563	Transcript	.	.	ENSG00000100300	1158	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSPOA_HUMAN	TSPO	HGNC	O76068_HUMAN,J3QLD3_HUMAN,B1AH87_HUMAN	.	UPI000013CC5C	SNV	TSPO,synonymous_variant,p.%3D,ENST00000428336,;TSPO,synonymous_variant,p.%3D,ENST00000329563,;TSPO,synonymous_variant,p.%3D,ENST00000337554,;TSPO,intron_variant,,ENST00000583777,;TSPO,intron_variant,,ENST00000396265,;TSPO,non_coding_transcript_exon_variant,,ENST00000472378,;	307	33	28	SUCCESS
TTLL12	23170	.	GRCh37	22	43570530	43570530	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	30	0	ENST00000216129.6:c.1009A>T	p.Asn337Tyr	p.N337Y	ENST00000216129	NM_015140.3	337	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS14047.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTTGAAGA	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF13	.	.	ENSP00000216129	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000216129	Transcript	.	.	ENSG00000100304	28974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	TTL12_HUMAN	TTLL12	HGNC	.	.	UPI000013938D	SNV	TTLL12,missense_variant,p.Asn337Tyr,ENST00000216129,;TTLL12,upstream_gene_variant,,ENST00000494035,;TTLL12,non_coding_transcript_exon_variant,,ENST00000484118,;TTLL12,upstream_gene_variant,,ENST00000484711,;	1073	30	23	SUCCESS
PRR5-ARHGAP8	553158	.	GRCh37	22	45218295	45218295	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	102	0	ENST00000352766.7:c.1061A>T	p.Glu354Val	p.E354V	ENST00000352766		354	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS54538.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGAGCTCC	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF3,Gene3D:3.40.525.10,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000374423	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000389773	Transcript	.	.	ENSG00000241484	677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	.	ARHGAP8	HGNC	Q52M44_HUMAN,F8W6F3_HUMAN,B1AHC2_HUMAN,A2RU51_HUMAN	.	UPI000199A4B6	SNV	ARHGAP8,missense_variant,p.Glu144Val,ENST00000336963,;PRR5-ARHGAP8,missense_variant,p.Glu198Val,ENST00000515632,;ARHGAP8,missense_variant,p.Glu144Val,ENST00000356099,;PRR5-ARHGAP8,missense_variant,p.Glu354Val,ENST00000352766,;ARHGAP8,missense_variant,p.Glu354Val,ENST00000517296,;ARHGAP8,missense_variant,p.Glu266Val,ENST00000389773,;ARHGAP8,missense_variant,p.Glu175Val,ENST00000389774,;PRR5-ARHGAP8,missense_variant,p.Glu275Val,ENST00000361473,;ARHGAP8,stop_lost,p.Ter164CysextTer6,ENST00000447333,;ARHGAP8,3_prime_UTR_variant,,ENST00000389772,;ARHGAP8,non_coding_transcript_exon_variant,,ENST00000460809,;ARHGAP8,non_coding_transcript_exon_variant,,ENST00000498310,;	797	102	62	SUCCESS
PHF21B	112885	.	GRCh37	22	45312213	45312213	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000313237.5:c.511G>T	p.Val171Leu	p.V171L	ENST00000313237	NM_138415.4	171	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS14061.1	511	RADIA|MUTECT|MUSE	.	GACCACAGACA	NONE	.	.	hmmpanther:PTHR24102:SF1,hmmpanther:PTHR24102	.	.	ENSP00000324403	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000313237	Transcript	.	.	ENSG00000056487	25161	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.008)	.	tolerated_low_confidence(0.06)	.	PF21B_HUMAN	PHF21B	HGNC	B3KTL5_HUMAN	.	UPI0000072111	SNV	PHF21B,missense_variant,p.Val159Leu,ENST00000420689,;PHF21B,missense_variant,p.Val159Leu,ENST00000447824,;PHF21B,missense_variant,p.Val171Leu,ENST00000396103,;PHF21B,missense_variant,p.Val171Leu,ENST00000313237,;PHF21B,missense_variant,p.Val9Leu,ENST00000414269,;PHF21B,missense_variant,p.Val9Leu,ENST00000403565,;PHF21B,missense_variant,p.Val159Leu,ENST00000404079,;PHF21B,non_coding_transcript_exon_variant,,ENST00000490679,;PHF21B,downstream_gene_variant,,ENST00000460507,;PHF21B,downstream_gene_variant,,ENST00000474327,;	662	14	12	SUCCESS
FAM118A	55007	.	GRCh37	22	45724305	45724305	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	43	0	ENST00000216214.3:c.522+361G>T		p.*174*	ENST00000216214	NM_001104595.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14065.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGTGGGG	NONE	.	.	.	.	.	ENSP00000216214	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000216214	Transcript	.	.	ENSG00000100376	1313	.	.	MODIFIER	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F118A_HUMAN	FAM118A	HGNC	B4DY02_HUMAN,B0QY28_HUMAN	.	UPI000022B897	SNV	FAM118A,synonymous_variant,p.%3D,ENST00000405673,;FAM118A,intron_variant,,ENST00000441876,;FAM118A,intron_variant,,ENST00000216214,;FAM118A,upstream_gene_variant,,ENST00000405548,;FAM118A,downstream_gene_variant,,ENST00000427777,;FAM118A,upstream_gene_variant,,ENST00000476478,;FAM118A,upstream_gene_variant,,ENST00000476754,;FAM118A,upstream_gene_variant,,ENST00000459849,;FAM118A,downstream_gene_variant,,ENST00000477714,;FAM118A,upstream_gene_variant,,ENST00000487732,;	.	44	22	SUCCESS
PPARA	5465	.	GRCh37	22	46594241	46594241	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	T	rs758765782	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	40	0	ENST00000262735.5:c.-40G>T		p.X14_splice	ENST00000262735	NM_005036.4	14		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAGCTTGG	NONE	.	.	.	.	.	ENSP00000379322	.	3/8	.	.	.	.	.	.	.	.	rs758765782	3/8	PASS	ENST00000396000	Transcript	.	.	ENSG00000186951	9232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPARA_HUMAN	PPARA	HGNC	F1D8S4_HUMAN,B0QYX2_HUMAN	.	UPI000000D8E0	SNV	PPARA,splice_acceptor_variant,,ENST00000402126,;PPARA,splice_acceptor_variant,,ENST00000415785,;PPARA,splice_region_variant,,ENST00000262735,;PPARA,splice_region_variant,,ENST00000420804,;PPARA,splice_region_variant,,ENST00000396000,;PPARA,splice_region_variant,,ENST00000440343,;PPARA,splice_region_variant,,ENST00000407236,;PPARA,upstream_gene_variant,,ENST00000434345,;PPARA,splice_acceptor_variant,,ENST00000481567,;PPARA,splice_region_variant,,ENST00000484619,;PPARA,splice_acceptor_variant,,ENST00000493286,;	226	40	35	SUCCESS
PKDREJ	10343	.	GRCh37	22	46657787	46657787	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	70	0	ENST00000253255.5:c.1433T>C	p.Leu478Ser	p.L478S	ENST00000253255	NM_006071.1	478	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS14073.1	1433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACAAAGAA	NONE	.	.	PROSITE_profiles:PS51111,hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877,Pfam_domain:PF02010	.	.	ENSP00000253255	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000253255	Transcript	.	.	ENSG00000130943	9015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PKDRE_HUMAN	PKDREJ	HGNC	A6MW40_HUMAN	.	UPI0000031D01	SNV	PKDREJ,missense_variant,p.Leu478Ser,ENST00000253255,;	1433	71	52	SUCCESS
TBC1D22A	25771	.	GRCh37	22	47189485	47189485	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758185320	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	33	78	0	ENST00000337137.4:c.207C>A	p.Ser69Arg	p.S69R	ENST00000337137	NM_014346.2	69	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS14078.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGCGATGC	NONE	byFrequency	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255	.	.	ENSP00000336724	.	3/13	.	.	.	.	.	.	.	.	rs758185320	3/13	PASS	ENST00000337137	Transcript	.	.	ENSG00000054611	1309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	TB22A_HUMAN	TBC1D22A	HGNC	B9A6M3_HUMAN,B0QYI3_HUMAN	.	UPI0000128722	SNV	TBC1D22A,missense_variant,p.Ser69Arg,ENST00000337137,;TBC1D22A,missense_variant,p.Ser50Arg,ENST00000355704,;TBC1D22A,missense_variant,p.Ser69Arg,ENST00000407381,;TBC1D22A,missense_variant,p.Ser22Arg,ENST00000406733,;TBC1D22A,missense_variant,p.Ser22Arg,ENST00000380995,;TBC1D22A,non_coding_transcript_exon_variant,,ENST00000472791,;TBC1D22A,non_coding_transcript_exon_variant,,ENST00000496139,;TBC1D22A,non_coding_transcript_exon_variant,,ENST00000486163,;TBC1D22A,missense_variant,p.Ser22Arg,ENST00000441162,;TBC1D22A,missense_variant,p.Ser69Arg,ENST00000394449,;TBC1D22A,3_prime_UTR_variant,,ENST00000441936,;	373	78	59	SUCCESS
MOV10L1	54456	.	GRCh37	22	50596795	50596795	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	20	0	ENST00000262794.5:c.3216+160C>G		p.*1072*	ENST00000262794	NM_018995.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14084.1	.	MUTECT|MUSE	.	GTCACCCAACT	NONE	.	.	.	.	.	ENSP00000262794	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262794	Transcript	.	.	ENSG00000073146	7201	.	.	MODIFIER	23/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M10L1_HUMAN	MOV10L1	HGNC	.	.	UPI00000421FB	SNV	MOV10L1,3_prime_UTR_variant,,ENST00000354853,;MOV10L1,intron_variant,,ENST00000540615,;MOV10L1,intron_variant,,ENST00000545383,;MOV10L1,intron_variant,,ENST00000395852,;MOV10L1,intron_variant,,ENST00000262794,;MOV10L1,intron_variant,,ENST00000395858,;MOV10L1,downstream_gene_variant,,ENST00000395843,;	.	20	22	SUCCESS
MOV10L1	54456	.	GRCh37	22	50599429	50599429	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	37	137	0	ENST00000262794.5:c.3499A>G	p.Thr1167Ala	p.T1167A	ENST00000262794	NM_018995.2	1167	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS14084.1	3499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTACAAAC	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF321	.	.	ENSP00000262794	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000262794	Transcript	.	.	ENSG00000073146	7201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.33)	.	M10L1_HUMAN	MOV10L1	HGNC	.	.	UPI00000421FB	SNV	MOV10L1,missense_variant,p.Thr1167Ala,ENST00000545383,;MOV10L1,missense_variant,p.Thr294Ala,ENST00000395852,;MOV10L1,missense_variant,p.Thr1167Ala,ENST00000262794,;MOV10L1,missense_variant,p.Thr1121Ala,ENST00000395858,;MOV10L1,intron_variant,,ENST00000540615,;MOV10L1,downstream_gene_variant,,ENST00000395843,;MOV10L1,downstream_gene_variant,,ENST00000354853,;	3582	137	106	SUCCESS
NPAS2	4862	.	GRCh37	2	101587535	101587535	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	85	0	ENST00000335681.5:c.1139A>T	p.Lys380Met	p.K380M	ENST00000335681	NM_002518.3	380	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS2048.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAAAGGTAC	NONE	.	.	hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042	.	.	ENSP00000338283	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	deleterious(0)	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	SNV	NPAS2,missense_variant,p.Lys380Met,ENST00000335681,;NPAS2,missense_variant,p.Lys445Met,ENST00000542504,;NPAS2,upstream_gene_variant,,ENST00000450763,;NPAS2,downstream_gene_variant,,ENST00000448812,;AC016738.3,downstream_gene_variant,,ENST00000446644,;AC016738.3,downstream_gene_variant,,ENST00000433012,;AC016738.3,downstream_gene_variant,,ENST00000439150,;NPAS2,upstream_gene_variant,,ENST00000471974,;NPAS2,splice_region_variant,,ENST00000474550,;	1424	85	89	SUCCESS
NPAS2	4862	.	GRCh37	2	101594175	101594175	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	73	0	ENST00000335681.5:c.1396C>G	p.Pro466Ala	p.P466A	ENST00000335681	NM_002518.3	466	Cct/Gct	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS2048.1	1396	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCCTCTG	NONE	.	.	hmmpanther:PTHR23042:SF4,hmmpanther:PTHR23042	.	.	ENSP00000338283	.	15/21	.	.	.	.	.	.	.	.	.	15/21	PASS	ENST00000335681	Transcript	.	.	ENSG00000170485	7895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.25)	.	NPAS2_HUMAN	NPAS2	HGNC	A2I2P5_HUMAN	.	UPI0000163B27	SNV	NPAS2,missense_variant,p.Pro466Ala,ENST00000335681,;NPAS2,missense_variant,p.Pro531Ala,ENST00000542504,;NPAS2,missense_variant,p.Pro65Ala,ENST00000450763,;NPAS2,upstream_gene_variant,,ENST00000433408,;AC016738.3,upstream_gene_variant,,ENST00000446644,;AC016738.3,upstream_gene_variant,,ENST00000433012,;AC016738.3,upstream_gene_variant,,ENST00000439150,;NPAS2,non_coding_transcript_exon_variant,,ENST00000471974,;NPAS2,non_coding_transcript_exon_variant,,ENST00000474550,;	1681	73	56	SUCCESS
RGPD4	285190	.	GRCh37	2	108488783	108488783	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	23	0	ENST00000408999.3:c.4323A>G	p.Val1441=	p.V1441=	ENST00000408999	NM_182588.2	1441	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS46381.1	4323	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTAGAGCA	NONE	.	.	PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF00638,Gene3D:2.30.29.30,SMART_domains:SM00160,Superfamily_domains:SSF50729	.	.	ENSP00000386810	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,synonymous_variant,p.%3D,ENST00000408999,;RGPD4,synonymous_variant,p.%3D,ENST00000354986,;	4400	23	21	SUCCESS
EDAR	10913	.	GRCh37	2	109527291	109527291	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	38	84	0	ENST00000258443.2:c.671A>T	p.His224Leu	p.H224L	ENST00000258443	NM_022336.3	224	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS2081.1	671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGTGGCTG	NONE	.	.	hmmpanther:PTHR12120:SF9,hmmpanther:PTHR12120	.	.	ENSP00000258443	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000258443	Transcript	.	.	ENSG00000135960	2895	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.17)	.	EDAR_HUMAN	EDAR	HGNC	.	.	UPI0000129BC4	SNV	EDAR,missense_variant,p.His256Leu,ENST00000409271,;EDAR,missense_variant,p.His256Leu,ENST00000376651,;EDAR,missense_variant,p.His224Leu,ENST00000258443,;	1102	84	74	SUCCESS
SH3RF3	344558	.	GRCh37	2	110053581	110053581	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	46	171	0	ENST00000309415.6:c.1807G>T	p.Ala603Ser	p.A603S	ENST00000309415	NM_001099289.1	603	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	.	1807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAGCCCGG	NONE	.	.	hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116	.	.	ENSP00000309186	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious(0.03)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Ala603Ser,ENST00000309415,;SH3RF3,missense_variant,p.Ala603Ser,ENST00000418513,;	1807	171	138	SUCCESS
SH3RF3	344558	.	GRCh37	2	110259210	110259210	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	44	0	ENST00000309415.6:c.2611A>G	p.Thr871Ala	p.T871A	ENST00000309415	NM_001099289.1	871	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	.	2611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCACAGGC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000309186	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Thr45Ala,ENST00000444352,;SH3RF3,missense_variant,p.Thr871Ala,ENST00000309415,;	2611	44	30	SUCCESS
RGPD8	727851	.	GRCh37	2	113145873	113145873	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	63	223	0	ENST00000302558.3:c.4649G>A	p.Ser1550Asn	p.S1550N	ENST00000302558	NM_001164463.1	1550	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS46394.1	4649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTACTAAAA	NONE	.	.	hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138	.	.	ENSP00000306637	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000302558	Transcript	.	.	ENSG00000169629	9849	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	tolerated(0.08)	.	RGPD8_HUMAN	RGPD8	HGNC	I1Z9D1_HUMAN,C9J1P2_HUMAN	.	UPI000013E7F5	SNV	RGPD8,missense_variant,p.Ser1550Asn,ENST00000302558,;RGPD8,missense_variant,p.Ser1410Asn,ENST00000409750,;RGPD8,downstream_gene_variant,,ENST00000330575,;RGPD8,downstream_gene_variant,,ENST00000522286,;	4841	223	177	SUCCESS
CKAP2L	150468	.	GRCh37	2	113518343	113518343	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	106	309	0	ENST00000302450.6:c.105-2A>T		p.X35_splice	ENST00000302450	NM_152515.3	35		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTATAAA	NONE	.	.	.	.	.	ENSP00000305204	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000302450	Transcript	.	.	ENSG00000169607	26877	.	.	HIGH	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CKP2L_HUMAN	CKAP2L	HGNC	F5H0M5_HUMAN	.	UPI0000207D64	SNV	CKAP2L,splice_acceptor_variant,,ENST00000302450,;CKAP2L,splice_acceptor_variant,,ENST00000541405,;CKAP2L,splice_acceptor_variant,,ENST00000497357,;CKAP2L,splice_acceptor_variant,,ENST00000481732,;CKAP2L,intron_variant,,ENST00000461876,;CKAP2L,splice_acceptor_variant,,ENST00000435431,;CKAP2L,upstream_gene_variant,,ENST00000474331,;	.	309	250	SUCCESS
IL1B	3553	.	GRCh37	2	113593196	113593196	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	74	0	ENST00000263341.2:c.48-2A>G		p.X16_splice	ENST00000263341	NM_000576.2	16		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2102.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGTAAT	NONE	.	.	.	.	.	ENSP00000263341	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263341	Transcript	.	.	ENSG00000125538	5992	.	.	HIGH	2/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL1B_HUMAN	IL1B	HGNC	C9JWV2_HUMAN,C9JVK0_HUMAN,C9JSC2_HUMAN,B5BUQ8_HUMAN	.	UPI0000054161	SNV	IL1B,splice_acceptor_variant,,ENST00000418817,;IL1B,splice_acceptor_variant,,ENST00000432018,;IL1B,splice_acceptor_variant,,ENST00000263341,;IL1B,splice_acceptor_variant,,ENST00000416750,;IL1B,splice_acceptor_variant,,ENST00000491056,;IL1B,splice_acceptor_variant,,ENST00000477398,;IL1B,splice_acceptor_variant,,ENST00000496280,;IL1B,upstream_gene_variant,,ENST00000487639,;	.	74	48	SUCCESS
ROCK2	9475	.	GRCh37	2	11375944	11375944	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	89	190	1	ENST00000315872.6:c.607G>A	p.Asp203Asn	p.D203N	ENST00000315872	NM_004850.3	203	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS42654.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATCCAGAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22988:SF24,hmmpanther:PTHR22988,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF037568,Superfamily_domains:SSF56112	.	.	ENSP00000317985	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000315872	Transcript	.	.	ENSG00000134318	10252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	deleterious(0.03)	.	ROCK2_HUMAN	ROCK2	HGNC	Q14DU5_HUMAN,E9PF63_HUMAN	.	UPI000034ECB0	SNV	ROCK2,missense_variant,p.Asp203Asn,ENST00000315872,;ROCK2,intron_variant,,ENST00000431087,;ROCK2,upstream_gene_variant,,ENST00000401753,;RNU6-1081P,downstream_gene_variant,,ENST00000384537,;ROCK2,downstream_gene_variant,,ENST00000462366,;ROCK2,missense_variant,p.Asp203Asn,ENST00000261535,;	1056	191	174	SUCCESS
RPL23AP7	118433	.	GRCh37	2	114383213	114383213	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	130	0	ENST00000416673.2:n.305A>G		p.*102*	ENST00000416673				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTCTCCC	NONE	.	1593	.	.	.	ENSP00000376872	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393167	Transcript	.	.	ENSG00000144134	9799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL2A_HUMAN	RABL2A	HGNC	C9JFZ0_HUMAN,B7ZBD4_HUMAN	.	UPI00001331E4	SNV	RABL2A,upstream_gene_variant,,ENST00000409842,;RABL2A,upstream_gene_variant,,ENST00000409875,;RABL2A,upstream_gene_variant,,ENST00000376439,;RABL2A,upstream_gene_variant,,ENST00000393167,;RABL2A,upstream_gene_variant,,ENST00000413545,;RABL2A,upstream_gene_variant,,ENST00000393165,;RABL2A,upstream_gene_variant,,ENST00000393166,;RPL23AP7,non_coding_transcript_exon_variant,,ENST00000391616,;RPL23AP7,non_coding_transcript_exon_variant,,ENST00000416673,;RABL2A,upstream_gene_variant,,ENST00000465711,;RABL2A,upstream_gene_variant,,ENST00000493876,;RABL2A,upstream_gene_variant,,ENST00000467600,;RABL2A,upstream_gene_variant,,ENST00000476236,;RABL2A,upstream_gene_variant,,ENST00000450954,;RABL2A,upstream_gene_variant,,ENST00000409121,;RABL2A,upstream_gene_variant,,ENST00000452831,;	.	130	114	SUCCESS
RABL2A	11159	.	GRCh37	2	114399018	114399018	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	144	0	ENST00000393166.3:c.495T>A	p.Asn165Lys	p.N165K	ENST00000393166		165	aaT/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS2118.1	495	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATGTTGT	NONE	.	.	PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF263,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000376872	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000393167	Transcript	.	.	ENSG00000144134	9799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	RBL2A_HUMAN	RABL2A	HGNC	C9JFZ0_HUMAN,B7ZBD4_HUMAN	.	UPI00001331E4	SNV	RABL2A,missense_variant,p.Asn165Lys,ENST00000409875,;RABL2A,missense_variant,p.Asn102Lys,ENST00000376439,;RABL2A,missense_variant,p.Asn165Lys,ENST00000393167,;RABL2A,missense_variant,p.Asn102Lys,ENST00000409842,;RABL2A,missense_variant,p.Asn166Lys,ENST00000393165,;RABL2A,missense_variant,p.Asn165Lys,ENST00000393166,;RABL2A,downstream_gene_variant,,ENST00000413545,;RABL2A,non_coding_transcript_exon_variant,,ENST00000478880,;RABL2A,downstream_gene_variant,,ENST00000465711,;RABL2A,downstream_gene_variant,,ENST00000477218,;RABL2A,3_prime_UTR_variant,,ENST00000450954,;RABL2A,3_prime_UTR_variant,,ENST00000452831,;RABL2A,non_coding_transcript_exon_variant,,ENST00000409121,;RABL2A,non_coding_transcript_exon_variant,,ENST00000494909,;RABL2A,non_coding_transcript_exon_variant,,ENST00000486403,;	720	144	89	SUCCESS
EN1	2019	.	GRCh37	2	119600649	119600649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	47	0	ENST00000295206.6:c.1044G>T	p.Lys348Asn	p.K348N	ENST00000295206	NM_001426.3	348	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS2123.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATCTTGAT	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24341,hmmpanther:PTHR24341:SF4,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024	.	.	ENSP00000295206	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295206	Transcript	.	.	ENSG00000163064	3342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HME1_HUMAN	EN1	HGNC	.	.	UPI000013E21D	SNV	EN1,missense_variant,p.Lys348Asn,ENST00000295206,;EN1,downstream_gene_variant,,ENST00000546667,;	1555	47	40	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125175023	125175023	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	31	88	0	ENST00000431078.1:c.385T>A	p.Phe129Ile	p.F129I	ENST00000431078	NM_130773.3	129	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS46401.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTTTGCA	NONE	.	.	PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785	.	.	ENSP00000399013	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.Phe129Ile,ENST00000431078,;	749	88	61	SUCCESS
SMPD4	55627	.	GRCh37	2	130918769	130918769	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs756289000	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	177	0	ENST00000409031.1:c.1058A>G	p.His353Arg	p.H353R	ENST00000409031	NM_017951.4	353	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS42751.1	1058	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGTGGAGG	NONE	.	.	hmmpanther:PTHR12988,Pfam_domain:PF14724	.	.	ENSP00000386531	.	11/20	.	.	.	.	.	.	.	.	rs756289000	11/20	PASS	ENST00000409031	Transcript	.	.	ENSG00000136699	32949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.04)	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	SNV	SMPD4,missense_variant,p.His182Arg,ENST00000439886,;SMPD4,missense_variant,p.Thr67Ala,ENST00000452225,;SMPD4,missense_variant,p.His353Arg,ENST00000409031,;SMPD4,intron_variant,,ENST00000339679,;SMPD4,intron_variant,,ENST00000430682,;SMPD4,intron_variant,,ENST00000453750,;SMPD4,intron_variant,,ENST00000351288,;SMPD4,intron_variant,,ENST00000443958,;SMPD4,intron_variant,,ENST00000451542,;SMPD4,intron_variant,,ENST00000431183,;SMPD4,intron_variant,,ENST00000426662,;SMPD4,upstream_gene_variant,,ENST00000457039,;SMPD4,intron_variant,,ENST00000473720,;SMPD4,upstream_gene_variant,,ENST00000455548,;SMPD4,3_prime_UTR_variant,,ENST00000433118,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000439029,;SMPD4,intron_variant,,ENST00000435455,;SMPD4,intron_variant,,ENST00000412570,;SMPD4,upstream_gene_variant,,ENST00000491128,;SMPD4,upstream_gene_variant,,ENST00000482171,;	2207	177	120	SUCCESS
SMPD4	55627	.	GRCh37	2	130939136	130939136	+	synonymous_variant	Silent	SNP	T	T	A	rs369506878	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	73	0	ENST00000409031.1:c.39A>T	p.Pro13=	p.P13=	ENST00000409031	NM_017951.4	13	ccA/ccT	0	C:0.0003	.	.	.	.	A	P	protein_coding	YES	CCDS42751.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGGAAG	NONE	.	.	.	.	C:0	ENSP00000386531	.	1/20	.	.	.	.	.	.	.	.	rs369506878	1/20	PASS	ENST00000409031	Transcript	.	.	ENSG00000136699	32949	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SMPD4	HGNC	C9J647_HUMAN,B1PBA3_HUMAN	.	UPI000036FC5A	SNV	SMPD4,synonymous_variant,p.%3D,ENST00000453750,;SMPD4,synonymous_variant,p.%3D,ENST00000351288,;SMPD4,synonymous_variant,p.%3D,ENST00000409031,;SMPD4,synonymous_variant,p.%3D,ENST00000431183,;SMPD4,5_prime_UTR_variant,,ENST00000339679,;SMPD4,5_prime_UTR_variant,,ENST00000452225,;SMPD4,5_prime_UTR_variant,,ENST00000443958,;SMPD4,5_prime_UTR_variant,,ENST00000426662,;MZT2B,upstream_gene_variant,,ENST00000425361,;MZT2B,upstream_gene_variant,,ENST00000455239,;MZT2B,upstream_gene_variant,,ENST00000409255,;SMPD4,upstream_gene_variant,,ENST00000441135,;MZT2B,upstream_gene_variant,,ENST00000457492,;MZT2B,upstream_gene_variant,,ENST00000281871,;AC018804.1,upstream_gene_variant,,ENST00000578074,;SMPD4,non_coding_transcript_exon_variant,,ENST00000473720,;MZT2B,upstream_gene_variant,,ENST00000491178,;SMPD4,5_prime_UTR_variant,,ENST00000433118,;SMPD4,5_prime_UTR_variant,,ENST00000454468,;SMPD4,5_prime_UTR_variant,,ENST00000412570,;SMPD4,5_prime_UTR_variant,,ENST00000439029,;MZT2B,upstream_gene_variant,,ENST00000480182,;MZT2B,upstream_gene_variant,,ENST00000485869,;	1188	73	57	SUCCESS
FAM168B	130074	.	GRCh37	2	131813019	131813019	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	46	108	0	ENST00000389915.3:c.301G>A	p.Gly101Ser	p.G101S	ENST00000389915		101	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS42755.1	301	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGCCTTGCT	NONE	.	.	Pfam_domain:PF14944,hmmpanther:PTHR31844:SF2,hmmpanther:PTHR31844	.	.	ENSP00000387051	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000409185	Transcript	.	.	ENSG00000152102	27016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated_low_confidence(0.07)	.	F168B_HUMAN	FAM168B	HGNC	.	.	UPI0000160B21	SNV	FAM168B,missense_variant,p.Gly101Ser,ENST00000409185,;FAM168B,missense_variant,p.Gly101Ser,ENST00000389915,;	409	108	105	SUCCESS
CCDC74A	90557	.	GRCh37	2	132287511	132287511	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	46	112	0	ENST00000295171.6:c.295+247A>T		p.*99*	ENST00000295171	NM_138770.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2167.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAGGGTG	NONE	.	.	.	.	.	ENSP00000295171	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295171	Transcript	.	.	ENSG00000163040	25197	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC74A_HUMAN	CCDC74A	HGNC	.	.	UPI000006E43A	SNV	CCDC74A,5_prime_UTR_variant,,ENST00000467992,;CCDC74A,intron_variant,,ENST00000295171,;CCDC74A,intron_variant,,ENST00000409856,;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,non_coding_transcript_exon_variant,,ENST00000465939,;CCDC74A,intron_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000468650,;	.	112	92	SUCCESS
LYPD1	116372	.	GRCh37	2	133427569	133427569	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	17	0	ENST00000397463.2:c.-64A>C		p.*22*	ENST00000397463	NM_144586.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42759.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGCCCC	NONE	.	.	.	.	.	ENSP00000380605	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000397463	Transcript	.	.	ENSG00000150551	28431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LYPD1_HUMAN	LYPD1	HGNC	Q53T92_HUMAN,Q53RU6_HUMAN	.	UPI00000477F5	SNV	LYPD1,5_prime_UTR_variant,,ENST00000397463,;LYPD1,intron_variant,,ENST00000345008,;NCKAP5,downstream_gene_variant,,ENST00000409213,;NCKAP5,downstream_gene_variant,,ENST00000409261,;NCKAP5,downstream_gene_variant,,ENST00000405974,;NCKAP5,downstream_gene_variant,,ENST00000317721,;AC010974.3,downstream_gene_variant,,ENST00000450509,;LYPD1,5_prime_UTR_variant,,ENST00000449209,;	210	17	17	SUCCESS
MAP3K19	80122	.	GRCh37	2	135781219	135781219	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	46	0	ENST00000375845.3:c.22+977A>C		p.*8*	ENST00000375845	NM_025052.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2176.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTGTGAA	NONE	.	.	.	.	.	ENSP00000365005	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375845	Transcript	.	.	ENSG00000176601	26249	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	M3K19_HUMAN	MAP3K19	HGNC	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN	.	UPI00004F77F2	SNV	MAP3K19,5_prime_UTR_variant,,ENST00000392915,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000392917,;MAP3K19,intron_variant,,ENST00000375844,;MAP3K19,intron_variant,,ENST00000414343,;MAP3K19,intron_variant,,ENST00000375845,;MAP3K19,intron_variant,,ENST00000392918,;MAP3K19,intron_variant,,ENST00000358371,;MAP3K19,upstream_gene_variant,,ENST00000425952,;MAP3K19,intron_variant,,ENST00000468155,;	.	46	30	SUCCESS
LRP1B	53353	.	GRCh37	2	141528495	141528495	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	89	0	ENST00000389484.3:c.5581T>A	p.Cys1861Ser	p.C1861S	ENST00000389484	NM_018557.2	1861	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS2182.1	5581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTACACATAC	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01186,Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000374135	.	34/91	.	.	.	.	.	.	.	.	.	34/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Cys1861Ser,ENST00000389484,;	6553	89	61	SUCCESS
KIF5C	3800	.	GRCh37	2	149633250	149633250	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	89	202	1	ENST00000435030.1:c.64G>A	p.Glu22Lys	p.E22K	ENST00000435030		22	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCGGAGATC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000393379	.	1/26	.	.	.	.	.	.	.	.	.	1/26	PASS	ENST00000435030	Transcript	.	.	ENSG00000168280	6325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	KIF5C_HUMAN	KIF5C	HGNC	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN	.	UPI000012DDB7	SNV	KIF5C,missense_variant,p.Glu22Lys,ENST00000435030,;AC105402.4,intron_variant,,ENST00000601658,;AC105402.4,downstream_gene_variant,,ENST00000446781,;AC105402.3,upstream_gene_variant,,ENST00000413336,;	432	203	188	SUCCESS
NEB	4703	.	GRCh37	2	152466569	152466569	+	synonymous_variant	Silent	SNP	A	A	G	rs1054788732	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	24	73	0	ENST00000172853.10:c.11355T>C	p.Asp3785=	p.D3785=	ENST00000172853		3785	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS54407.1	12084	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCATCTTC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	81/182	.	.	.	.	.	.	.	.	.	81/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,synonymous_variant,p.%3D,ENST00000603639,;NEB,synonymous_variant,p.%3D,ENST00000172853,;NEB,synonymous_variant,p.%3D,ENST00000427231,;NEB,synonymous_variant,p.%3D,ENST00000397345,;NEB,synonymous_variant,p.%3D,ENST00000604864,;NEB,synonymous_variant,p.%3D,ENST00000409198,;	12287	73	59	SUCCESS
KCNJ3	3760	.	GRCh37	2	155555145	155555145	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	rs538281123	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	39	0	ENST00000295101.2:c.-143A>T		p.*48*	ENST00000295101	NM_002239.3			0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS2200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTACCTGC	NONE	by1000G	.	.	G:0.001	.	ENSP00000295101	G:0	1/3	.	.	.	.	.	.	.	.	rs538281123	1/3	PASS	ENST00000295101	Transcript	.	G:0.0002	ENSG00000162989	6264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,5_prime_UTR_variant,,ENST00000295101,;KCNJ3,upstream_gene_variant,,ENST00000544049,;AC061961.2,upstream_gene_variant,,ENST00000443901,;	335	39	20	SUCCESS
NBAS	51594	.	GRCh37	2	15679482	15679482	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	105	0	ENST00000281513.5:c.380-2A>T		p.X127_splice	ENST00000281513	NM_015909.3	127		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1685.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACTAGAAC	NONE	.	.	.	.	.	ENSP00000281513	.	.	.	.	.	.	.	.	.	.	COSM1641667	.	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	HIGH	6/51	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,splice_acceptor_variant,,ENST00000441750,;NBAS,splice_acceptor_variant,,ENST00000281513,;	.	105	102	SUCCESS
SLC4A10	57282	.	GRCh37	2	162813739	162813739	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	96	0	ENST00000446997.1:c.2782A>T	p.Ser928Cys	p.S928C	ENST00000446997	NM_001178015.1	928	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS54411.1	2782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCAGTATT	CODON|p.T897T|c.2691C>T|3,CODON|p.T927T|c.2781C>T|3,BUFFER|p.T897A|c.2689A>G|4,BUFFER|p.T927A|c.2779A>G|4,BUFFER|p.K931R|c.2792A>G|6,BUFFER|p.K901R|c.2702A>G|6	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	.	.	ENSP00000393066	.	20/27	.	.	.	.	.	.	.	.	.	20/27	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,missense_variant,p.Ser928Cys,ENST00000446997,;SLC4A10,missense_variant,p.Ser928Cys,ENST00000421911,;SLC4A10,missense_variant,p.Ser898Cys,ENST00000272716,;SLC4A10,missense_variant,p.Ser909Cys,ENST00000375514,;SLC4A10,missense_variant,p.Ser898Cys,ENST00000415876,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	2875	96	79	SUCCESS
DPP4	1803	.	GRCh37	2	162851476	162851476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	81	190	0	ENST00000360534.3:c.2194G>T	p.Ala732Ser	p.A732S	ENST00000360534	NM_001935.3	732	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2216.1	2194	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCCTGGA	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF93,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000353731	.	25/26	.	.	.	.	.	.	.	.	.	25/26	PASS	ENST00000360534	Transcript	.	.	ENSG00000197635	3009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	tolerated(0.09)	.	DPP4_HUMAN	DPP4	HGNC	.	.	UPI000004F7BF	SNV	DPP4,missense_variant,p.Ala732Ser,ENST00000360534,;DPP4,non_coding_transcript_exon_variant,,ENST00000491591,;DPP4,3_prime_UTR_variant,,ENST00000434918,;DPP4,downstream_gene_variant,,ENST00000490286,;	2755	190	168	SUCCESS
KCNH7	90134	.	GRCh37	2	163361126	163361126	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	45	128	0	ENST00000332142.5:c.955T>A	p.Ser319Thr	p.S319T	ENST00000332142	NM_033272.3	319	Tca/Aca	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS2219.1	955	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGATGTGG	NONE	.	.	hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217	.	.	ENSP00000331727	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000332142	Transcript	.	.	ENSG00000184611	18863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	deleterious(0.03)	.	KCNH7_HUMAN	KCNH7	HGNC	.	.	UPI0000167D11	SNV	KCNH7,missense_variant,p.Ser319Thr,ENST00000332142,;KCNH7,missense_variant,p.Ser312Thr,ENST00000328032,;KCNH7,non_coding_transcript_exon_variant,,ENST00000477019,;	1055	129	105	SUCCESS
PXDN	7837	.	GRCh37	2	1667460	1667460	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	49	0	ENST00000252804.4:c.1484A>T	p.His495Leu	p.H495L	ENST00000252804	NM_012293.1	495	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS46221.1	1484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGTGGAGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000252804	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.151)	.	tolerated(0.12)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.His495Leu,ENST00000252804,;PXDN,missense_variant,p.His491Leu,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,downstream_gene_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;	1535	49	45	SUCCESS
SCN1A	6323	.	GRCh37	2	166901779	166901779	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	60	0	ENST00000303395.4:c.1436T>C	p.Leu479Pro	p.L479P	ENST00000303395		479	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS54413.1	1436	RADIA|MUSE|VARSCANS	.	CTGAGAGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	.	.	ENSP00000303540	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.333)	.	tolerated(0.19)	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,missense_variant,p.Leu479Pro,ENST00000409050,;SCN1A,missense_variant,p.Leu479Pro,ENST00000423058,;SCN1A,missense_variant,p.Leu479Pro,ENST00000303395,;SCN1A,missense_variant,p.Leu479Pro,ENST00000375405,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;	1436	60	56	SUCCESS
SCN7A	6332	.	GRCh37	2	167298134	167298134	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	77	221	0	ENST00000409855.1:c.1929A>G	p.Ala643=	p.A643=	ENST00000409855	NM_002976.3	643	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46442.1	1929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAATGCAGC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF14,hmmpanther:PTHR10037	.	.	ENSP00000386796	.	14/25	.	.	.	.	.	.	.	.	.	14/25	PASS	ENST00000409855	Transcript	.	.	ENSG00000136546	10594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN7A_HUMAN	SCN7A	HGNC	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	.	UPI0000209019	SNV	SCN7A,synonymous_variant,p.%3D,ENST00000409855,;SCN7A,synonymous_variant,p.%3D,ENST00000419992,;SCN7A,synonymous_variant,p.%3D,ENST00000424326,;	2056	221	171	SUCCESS
LRP2	4036	.	GRCh37	2	170063518	170063518	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764132183	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	61	139	0	ENST00000263816.3:c.6712G>A	p.Gly2238Ser	p.G2238S	ENST00000263816	NM_004525.2	2238	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS2232.1	6712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCCCGTG	NONE	byFrequency	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	39/79	.	.	.	.	.	.	.	.	rs764132183	39/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Gly2238Ser,ENST00000263816,;	6998	139	139	SUCCESS
LRP2	4036	.	GRCh37	2	170097673	170097673	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	44	89	0	ENST00000263816.3:c.3870T>C	p.Cys1290=	p.C1290=	ENST00000263816	NM_004525.2	1290	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS2232.1	3870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCACAGAG	BUFFER|p.R1292W|c.3874C>T|3	.	.	PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	.	.	ENSP00000263816	.	25/79	.	.	.	.	.	.	.	.	.	25/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,synonymous_variant,p.%3D,ENST00000263816,;LRP2,synonymous_variant,p.%3D,ENST00000443831,;	4156	89	90	SUCCESS
BBS5	129880	.	GRCh37	2	170354147	170354147	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1559124753	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	230	11	283	0	ENST00000295240.3:c.629A>G	p.Lys210Arg	p.K210R	ENST00000295240	NM_152384.2	210	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS2233.1	629	MUTECT|MUSE	.	AATAAAGATTA	NONE	.	.	hmmpanther:PTHR21351,Gene3D:2.30.29.30,Pfam_domain:PF07289,PIRSF_domain:PIRSF010072,SMART_domains:SM00683	.	.	ENSP00000295240	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000295240	Transcript	.	.	ENSG00000163093	970	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.482)	.	tolerated(0.69)	.	BBS5_HUMAN	BBS5	HGNC	.	.	UPI000000DA9B	SNV	BBS5,missense_variant,p.Lys210Arg,ENST00000295240,;BBS5,missense_variant,p.Lys210Arg,ENST00000554017,;RP11-724O16.1,missense_variant,p.Lys210Arg,ENST00000513963,;BBS5,intron_variant,,ENST00000392663,;BBS5,3_prime_UTR_variant,,ENST00000443151,;BBS5,upstream_gene_variant,,ENST00000472667,;BBS5,downstream_gene_variant,,ENST00000475571,;	1005	283	241	SUCCESS
PHOSPHO2	493911	.	GRCh37	2	170557709	170557709	+	synonymous_variant	Silent	SNP	A	A	T	rs760343142	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	46	109	0	ENST00000359744.3:c.228A>T	p.Pro76=	p.P76=	ENST00000359744	NM_001199286.1	76	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33319.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGGGAT	NONE	.	.	hmmpanther:PTHR20889,hmmpanther:PTHR20889:SF1,Pfam_domain:PF06888,TIGRFAM_domain:TIGR01488,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01489,PIRSF_domain:PIRSF031051,Superfamily_domains:SSF56784	.	.	ENSP00000352782	.	4/4	.	.	.	.	.	.	.	.	rs760343142	4/4	PASS	ENST00000359744	Transcript	.	.	ENSG00000144362	28316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHOP2_HUMAN	PHOSPHO2	HGNC	C9JZQ7_HUMAN,C9JD35_HUMAN,C9J4G2_HUMAN	.	UPI000006D7F5	SNV	PHOSPHO2,synonymous_variant,p.%3D,ENST00000438710,;PHOSPHO2,synonymous_variant,p.%3D,ENST00000359744,;KLHL23,intron_variant,,ENST00000602521,;KLHL23,intron_variant,,ENST00000272797,;KLHL23,intron_variant,,ENST00000498202,;PHOSPHO2,downstream_gene_variant,,ENST00000449906,;PHOSPHO2,downstream_gene_variant,,ENST00000438838,;PHOSPHO2,downstream_gene_variant,,ENST00000476919,;	616	109	98	SUCCESS
UBR3	130507	.	GRCh37	2	170806488	170806488	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1404274530	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	55	157	0	ENST00000272793.5:c.3458T>C	p.Ile1153Thr	p.I1153T	ENST00000272793		1153	aTt/aCt	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS2238.2	3458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATTGAAG	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	.	.	ENSP00000396068	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000418381	Transcript	.	.	ENSG00000144357	30467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.829)	.	deleterious(0)	.	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	SNV	UBR3,missense_variant,p.Ile1153Thr,ENST00000418381,;UBR3,missense_variant,p.Ile1153Thr,ENST00000272793,;UBR3,missense_variant,p.Ile211Thr,ENST00000392632,;UBR3,missense_variant,p.Ile301Thr,ENST00000430321,;UBR3,non_coding_transcript_exon_variant,,ENST00000487689,;UBR3,downstream_gene_variant,,ENST00000477461,;	3458	157	127	SUCCESS
MYO3B	140469	.	GRCh37	2	171243724	171243724	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	46	93	0	ENST00000408978.4:c.1483T>C	p.Tyr495His	p.Y495H	ENST00000408978	NM_138995.4	495	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS42773.1	1483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAATATCTG	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	14/35	.	.	.	.	.	.	.	.	.	14/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Tyr504His,ENST00000484338,;MYO3B,missense_variant,p.Tyr495His,ENST00000408978,;MYO3B,missense_variant,p.Tyr504His,ENST00000334231,;MYO3B,missense_variant,p.Tyr495His,ENST00000409044,;MYO3B,downstream_gene_variant,,ENST00000442690,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.Tyr495His,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	1626	93	87	SUCCESS
MYO3B	140469	.	GRCh37	2	171260905	171260905	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	42	109	0	ENST00000408978.4:c.2426T>A	p.Leu809Gln	p.L809Q	ENST00000408978	NM_138995.4	809	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS42773.1	2426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTGGTTG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456	.	.	ENSP00000386213	.	20/35	.	.	.	.	.	.	.	.	.	20/35	PASS	ENST00000408978	Transcript	.	.	ENSG00000071909	15576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYO3B_HUMAN	MYO3B	HGNC	.	.	UPI000020907B	SNV	MYO3B,missense_variant,p.Leu818Gln,ENST00000484338,;MYO3B,missense_variant,p.Leu809Gln,ENST00000408978,;MYO3B,missense_variant,p.Leu818Gln,ENST00000334231,;MYO3B,missense_variant,p.Leu809Gln,ENST00000409044,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,missense_variant,p.Leu809Gln,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	2569	109	93	SUCCESS
DLX2	1746	.	GRCh37	2	172967349	172967349	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	39	0	ENST00000234198.4:c.-83T>G		p.*28*	ENST00000234198	NM_004405.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2248.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGCAGC	NONE	.	.	.	.	.	ENSP00000234198	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000234198	Transcript	.	.	ENSG00000115844	2915	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLX2_HUMAN	DLX2	HGNC	Q53QU7_HUMAN	.	UPI00001294AC	SNV	DLX2,5_prime_UTR_variant,,ENST00000466293,;DLX2,5_prime_UTR_variant,,ENST00000234198,;AC104801.1,upstream_gene_variant,,ENST00000448117,;	280	39	33	SUCCESS
HNRNPA3	220988	.	GRCh37	2	178081594	178081594	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	40	0	ENST00000392524.2:c.746A>G	p.Tyr249Cys	p.Y249C	ENST00000392524		249	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2273.1	746	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTATGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF284,hmmpanther:PTHR24012	.	.	ENSP00000376309	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000392524	Transcript	.	.	ENSG00000170144	24941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.11)	.	ROA3_HUMAN	HNRNPA3	HGNC	Q8NFG3_HUMAN	.	UPI00001BE8DE	SNV	HNRNPA3,missense_variant,p.Tyr249Cys,ENST00000435711,;HNRNPA3,missense_variant,p.Tyr249Cys,ENST00000392524,;HNRNPA3,missense_variant,p.Tyr227Cys,ENST00000411529,;HNRNPA3,intron_variant,,ENST00000432457,;MIR4444-2,downstream_gene_variant,,ENST00000581696,;AC079305.8,upstream_gene_variant,,ENST00000455416,;HNRNPA3,upstream_gene_variant,,ENST00000483137,;	983	40	43	SUCCESS
TTC30B	150737	.	GRCh37	2	178415920	178415920	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	65	206	0	ENST00000408939.3:c.1572T>G	p.Ile524Met	p.I524M	ENST00000408939	NM_152517.2	524	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS42784.1	1572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAATCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR20931,hmmpanther:PTHR20931:SF2,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000386181	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408939	Transcript	.	.	ENSG00000196659	26425	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	deleterious(0)	.	TT30B_HUMAN	TTC30B	HGNC	.	.	UPI000013DE25	SNV	TTC30B,missense_variant,p.Ile524Met,ENST00000408939,;	1823	207	174	SUCCESS
TTN	7273	.	GRCh37	2	179398439	179398439	+	synonymous_variant	Silent	SNP	A	A	T	rs762968139	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	31	73	0	ENST00000591111.1:c.97980T>A	p.Gly32660=	p.G32660=	ENST00000591111		32660	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS59435.1	102903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCACCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	358/363	.	.	.	.	.	.	.	.	rs762968139,COSM1269244,COSM1269243,COSM1269240,COSM1269242,COSM1269241	358/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000460472,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;	103128	73	62	SUCCESS
TTN	7273	.	GRCh37	2	179401059	179401059	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	45	92	0	ENST00000591111.1:c.95492T>A	p.Leu31831Gln	p.L31831Q	ENST00000591111		31831	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS59435.1	100415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTAGATTT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	357/363	.	.	.	.	.	.	.	.	.	357/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu24532Gln,ENST00000359218,;TTN,missense_variant,p.Leu24407Gln,ENST00000460472,;TTN,missense_variant,p.Leu31831Gln,ENST00000591111,;TTN,missense_variant,p.Leu33472Gln,ENST00000589042,;TTN,missense_variant,p.Leu24599Gln,ENST00000342175,;TTN,missense_variant,p.Leu30904Gln,ENST00000342992,;TTN-AS1,splice_acceptor_variant,,ENST00000589391,;TTN-AS1,splice_acceptor_variant,,ENST00000591867,;TTN-AS1,splice_acceptor_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000442329,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;	100640	92	70	SUCCESS
TTN	7273	.	GRCh37	2	179477140	179477140	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	35	80	0	ENST00000591111.1:c.45189T>A	p.Thr15063=	p.T15063=	ENST00000591111		15063	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS59435.1	50112	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACAGTGGT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	266/363	.	.	.	.	.	.	.	.	.	266/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000460472,;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;	50337	80	65	SUCCESS
TTN	7273	.	GRCh37	2	179482943	179482943	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs368988689	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	85	0	ENST00000591111.1:c.42319A>T	p.Asn14107Tyr	p.N14107Y	ENST00000591111		14107	Aat/Tat	0	G:0.0008	.	.	.	.	A	N/Y	protein_coding	YES	CCDS59435.1	47242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	AGGATTGTCAG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Superfamily_domains:SSF49265	.	G:0	ENSP00000467141	.	252/363	.	.	.	.	.	.	.	.	rs368988689	252/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Asn6808Tyr,ENST00000359218,;TTN,missense_variant,p.Asn14107Tyr,ENST00000591111,;TTN,missense_variant,p.Asn15748Tyr,ENST00000589042,;TTN,missense_variant,p.Asn13180Tyr,ENST00000342992,;TTN,missense_variant,p.Asn6875Tyr,ENST00000342175,;TTN,missense_variant,p.Asn6683Tyr,ENST00000460472,;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;	47467	85	77	SUCCESS
TTN	7273	.	GRCh37	2	179584711	179584711	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	83	0	ENST00000591111.1:c.22707A>T		p.X7569_splice	ENST00000591111		7569	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS59435.1	23658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCTAGTAC	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	81/363	.	.	.	.	.	.	.	.	.	81/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	23883	83	61	SUCCESS
TTN	7273	.	GRCh37	2	179590678	179590678	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	53	150	0	ENST00000591111.1:c.19420G>A	p.Glu6474Lys	p.E6474K	ENST00000591111		6474	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS59435.1	20371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTCAAACG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	70/363	.	.	.	.	.	.	.	.	.	70/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu5547Lys,ENST00000342992,;TTN,missense_variant,p.Glu6474Lys,ENST00000591111,;TTN,missense_variant,p.Glu6791Lys,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;	20596	150	116	SUCCESS
GEN1	348654	.	GRCh37	2	17959314	17959314	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	130	257	0	ENST00000317402.7:c.1248A>T	p.Ile416=	p.I416=	ENST00000317402	NM_182625.3	416	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS1691.1	1248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATAGAATG	NONE	.	.	hmmpanther:PTHR11081,hmmpanther:PTHR11081:SF23	.	.	ENSP00000370653	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000381254	Transcript	.	.	ENSG00000178295	26881	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEN_HUMAN	GEN1	HGNC	E9PM30_HUMAN,E9PLG0_HUMAN	.	UPI00004113DA	SNV	GEN1,synonymous_variant,p.%3D,ENST00000381254,;GEN1,synonymous_variant,p.%3D,ENST00000528873,;GEN1,synonymous_variant,p.%3D,ENST00000317402,;SMC6,intron_variant,,ENST00000428868,;SMC6,intron_variant,,ENST00000402989,;GEN1,downstream_gene_variant,,ENST00000534451,;	1462	257	267	SUCCESS
TTN	7273	.	GRCh37	2	179594257	179594257	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	52	0	ENST00000591111.1:c.17675A>T	p.Glu5892Val	p.E5892V	ENST00000591111		5892	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS59435.1	18626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCTCCACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	64/363	.	.	.	.	.	.	.	.	.	64/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Glu4965Val,ENST00000342992,;TTN,missense_variant,p.Glu6209Val,ENST00000589042,;TTN,missense_variant,p.Glu5892Val,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	18851	52	64	SUCCESS
TTN	7273	.	GRCh37	2	179596251	179596251	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	71	1	ENST00000591111.1:c.16291G>T	p.Ala5431Ser	p.A5431S	ENST00000591111		5431	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS59435.1	17242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCAGCTG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	59/363	.	.	.	.	.	.	.	.	.	59/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Ala4504Ser,ENST00000342992,;TTN,missense_variant,p.Ala5748Ser,ENST00000589042,;TTN,missense_variant,p.Ala5431Ser,ENST00000591111,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	17467	72	62	SUCCESS
TTN	7273	.	GRCh37	2	179644181	179644181	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	127	0	ENST00000591111.1:c.3738T>A	p.His1246Gln	p.H1246Q	ENST00000591111		1246	caT/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS59435.1	3738	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATATGGAA	NONE	.	.	hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817	.	.	ENSP00000467141	.	23/363	.	.	.	.	.	.	.	.	.	23/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.His1246Gln,ENST00000360870,;TTN,missense_variant,p.His1246Gln,ENST00000342992,;TTN,missense_variant,p.His1200Gln,ENST00000342175,;TTN,missense_variant,p.His1200Gln,ENST00000359218,;TTN,missense_variant,p.His1246Gln,ENST00000589042,;TTN,missense_variant,p.His1246Gln,ENST00000591111,;TTN,missense_variant,p.His1200Gln,ENST00000460472,;RP11-88L24.4,intron_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;	3963	127	90	SUCCESS
ZNF385B	151126	.	GRCh37	2	180311266	180311266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	78	0	ENST00000410066.1:c.902A>T	p.Glu301Val	p.E301V	ENST00000410066	NM_152520.4	301	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS33339.1	902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTCTAGC	NONE	.	.	hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067,PROSITE_patterns:PS00028,Pfam_domain:PF12874,SMART_domains:SM00451,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000386845	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,missense_variant,p.Glu199Val,ENST00000409692,;ZNF385B,missense_variant,p.Glu225Val,ENST00000409343,;ZNF385B,missense_variant,p.Glu301Val,ENST00000410066,;ZNF385B,missense_variant,p.Glu199Val,ENST00000336917,;ZNF385B,missense_variant,p.Glu199Val,ENST00000457304,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000469551,;ZNF385B,downstream_gene_variant,,ENST00000475539,;	1506	78	64	SUCCESS
ITGA4	3676	.	GRCh37	2	182339916	182339916	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	51	111	0	ENST00000397033.2:c.457T>G	p.Tyr153Asp	p.Y153D	ENST00000397033	NM_000885.4	153	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS42788.1	457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTACATA	NONE	.	.	PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318	.	.	ENSP00000380227	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious(0)	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,missense_variant,p.Tyr153Asp,ENST00000339307,;ITGA4,missense_variant,p.Tyr153Asp,ENST00000233573,;ITGA4,missense_variant,p.Tyr153Asp,ENST00000397033,;ITGA4,intron_variant,,ENST00000478440,;ITGA4,non_coding_transcript_exon_variant,,ENST00000465522,;ITGA4,non_coding_transcript_exon_variant,,ENST00000484404,;	887	111	118	SUCCESS
CERKL	375298	.	GRCh37	2	182413408	182413408	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	77	210	0	ENST00000339098.5:c.1150A>T	p.Lys384Ter	p.K384*	ENST00000339098		384	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS42789.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTAAGTT	NONE	.	.	Superfamily_domains:SSF111331,hmmpanther:PTHR12358:SF26,hmmpanther:PTHR12358,Low_complexity_(Seg):seg	.	.	ENSP00000341159	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000339098	Transcript	.	.	ENSG00000188452	21699	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CERKL_HUMAN	CERKL	HGNC	G0XYE8_HUMAN,G0XYE7_HUMAN,G0XYD8_HUMAN	.	UPI000057259A	SNV	CERKL,stop_gained,p.Lys340Ter,ENST00000409440,;CERKL,stop_gained,p.Lys289Ter,ENST00000374970,;CERKL,stop_gained,p.Lys384Ter,ENST00000339098,;CERKL,stop_gained,p.Lys358Ter,ENST00000410087,;CERKL,stop_gained,p.Lys245Ter,ENST00000374969,;CERKL,splice_region_variant,,ENST00000479558,;CERKL,splice_region_variant,,ENST00000374967,;CERKL,splice_region_variant,,ENST00000494398,;CERKL,splice_region_variant,,ENST00000421817,;CERKL,splice_region_variant,,ENST00000452174,;	1150	211	182	SUCCESS
NEUROD1	4760	.	GRCh37	2	182543118	182543118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	58	0	ENST00000295108.3:c.470T>C	p.Leu157Pro	p.L157P	ENST00000295108	NM_002500.4	157	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2283.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCAGGATC	NONE	.	.	hmmpanther:PTHR19290:SF88,hmmpanther:PTHR19290,Gene3D:4.10.280.10,SMART_domains:SM00353,PIRSF_domain:PIRSF015618,Superfamily_domains:SSF47459	.	.	ENSP00000295108	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295108	Transcript	.	.	ENSG00000162992	7762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NDF1_HUMAN	NEUROD1	HGNC	.	.	UPI000013E207	SNV	NEUROD1,missense_variant,p.Leu157Pro,ENST00000295108,;AC013733.3,upstream_gene_variant,,ENST00000440371,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;CERKL,intron_variant,,ENST00000479558,;	928	58	58	SUCCESS
FSIP2	401024	.	GRCh37	2	186671974	186671974	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	86	0	ENST00000424728.1:c.17941A>G	p.Lys5981Glu	p.K5981E	ENST00000424728		5981	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS54426.1	18208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTAAGGAT	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Lys6070Glu,ENST00000343098,;FSIP2,missense_variant,p.Lys5981Glu,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	18208	86	92	SUCCESS
RDH14	57665	.	GRCh37	2	18736712	18736712	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	58	153	0	ENST00000381249.3:c.756A>G	p.Thr252=	p.T252=	ENST00000381249	NM_020905.3	252	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1693.1	756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTTGTCCG	NONE	.	.	hmmpanther:PTHR24320:SF47,hmmpanther:PTHR24320,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000370648	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381249	Transcript	.	.	ENSG00000240857	19979	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDH14_HUMAN	RDH14	HGNC	Q53RX3_HUMAN	.	UPI0000048EE2	SNV	RDH14,synonymous_variant,p.%3D,ENST00000381249,;NT5C1B,downstream_gene_variant,,ENST00000600945,;NT5C1B-RDH14,downstream_gene_variant,,ENST00000532967,;NT5C1B-RDH14,downstream_gene_variant,,ENST00000444297,;RDH14,non_coding_transcript_exon_variant,,ENST00000468071,;	864	153	129	SUCCESS
COL3A1	1281	.	GRCh37	2	189864285	189864285	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	41	0	ENST00000304636.3:c.2211T>A	p.Pro737=	p.P737=	ENST00000304636	NM_000090.3	737	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS2297.1	2211	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTGGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	31/51	.	.	.	.	.	.	.	.	.	31/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,synonymous_variant,p.%3D,ENST00000317840,;COL3A1,synonymous_variant,p.%3D,ENST00000304636,;COL3A1,upstream_gene_variant,,ENST00000467886,;	2381	41	45	SUCCESS
MSTN	2660	.	GRCh37	2	190927416	190927416	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs779630329	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	17	0	ENST00000260950.4:c.-94T>C		p.*32*	ENST00000260950	NM_005259.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2303.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCATGTAC	NONE	byCluster	.	.	.	.	ENSP00000260950	.	1/3	.	.	.	.	.	.	.	.	rs779630329	1/3	PASS	ENST00000260950	Transcript	.	.	ENSG00000138379	4223	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GDF8_HUMAN	MSTN	HGNC	Q53S46_HUMAN	.	UPI0000037254	SNV	MSTN,5_prime_UTR_variant,,ENST00000260950,;C2orf88,intron_variant,,ENST00000495546,;C2orf88,intron_variant,,ENST00000478197,;	40	17	19	SUCCESS
NAB1	4664	.	GRCh37	2	191523848	191523848	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	34	0	ENST00000337386.5:c.-19-36A>T		p.*7*	ENST00000337386	NM_005966.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2307.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTATGATG	NONE	.	.	.	.	.	ENSP00000336894	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337386	Transcript	.	.	ENSG00000138386	7626	.	.	MODIFIER	3/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAB1_HUMAN	NAB1	HGNC	C9JL92_HUMAN,C9JJ42_HUMAN,C9JID4_HUMAN,C9JFF6_HUMAN,C9J3V0_HUMAN	.	UPI0000001C43	SNV	NAB1,5_prime_UTR_variant,,ENST00000409641,;NAB1,intron_variant,,ENST00000423076,;NAB1,intron_variant,,ENST00000448811,;NAB1,intron_variant,,ENST00000426601,;NAB1,intron_variant,,ENST00000423376,;NAB1,intron_variant,,ENST00000409581,;NAB1,intron_variant,,ENST00000337386,;NAB1,intron_variant,,ENST00000357215,;NAB1,intron_variant,,ENST00000416973,;NAB1,upstream_gene_variant,,ENST00000545490,;NAB1,upstream_gene_variant,,ENST00000434473,;NAB1,upstream_gene_variant,,ENST00000484774,;	.	34	19	SUCCESS
SDPR	0	.	GRCh37	2	192711467	192711467	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs747444972	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	36	83	0	ENST00000304141.4:c.185T>A	p.Leu62Gln	p.L62Q	ENST00000304141	NM_004657.5	62	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2313.1	185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCAGGAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240,Pfam_domain:PF15237	.	.	ENSP00000305675	.	1/2	.	.	.	.	.	.	.	.	rs747444972	1/2	PASS	ENST00000304141	Transcript	.	.	ENSG00000168497	10690	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SDPR_HUMAN	SDPR	HGNC	.	.	UPI00000373C3	SNV	SDPR,missense_variant,p.Leu62Gln,ENST00000304141,;AC098617.1,non_coding_transcript_exon_variant,,ENST00000424116,;	515	83	71	SUCCESS
RFTN2	130132	.	GRCh37	2	198540055	198540055	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	102	0	ENST00000295049.4:c.128T>A	p.Phe43Tyr	p.F43Y	ENST00000295049	NM_144629.2	43	tTt/tAt	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS2323.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTAAAATCC	NONE	.	.	hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250	.	.	ENSP00000295049	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000295049	Transcript	.	.	ENSG00000162944	26402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	RFTN2_HUMAN	RFTN2	HGNC	C9J6C2_HUMAN	.	UPI000013E1F9	SNV	RFTN2,missense_variant,p.Phe43Tyr,ENST00000295049,;RFTN2,missense_variant,p.Phe43Tyr,ENST00000429081,;	665	102	65	SUCCESS
AOX1	316	.	GRCh37	2	201469552	201469552	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	93	0	ENST00000374700.2:c.803A>G	p.Asn268Ser	p.N268S	ENST00000374700	NM_001159.3	268	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33360.1	803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAACACCT	NONE	.	.	PROSITE_profiles:PS51387,hmmpanther:PTHR11908,Gene3D:3.30.43.10,TIGRFAM_domain:TIGR02969,Pfam_domain:PF00941,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56176	.	.	ENSP00000363832	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000374700	Transcript	.	.	ENSG00000138356	553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	deleterious(0.03)	.	ADO_HUMAN	AOX1	HGNC	C9J244_HUMAN,B4DNI5_HUMAN	.	UPI0000071863	SNV	AOX1,missense_variant,p.Asn268Ser,ENST00000374700,;AOX1,downstream_gene_variant,,ENST00000454629,;AOX1,upstream_gene_variant,,ENST00000485106,;AOX1,upstream_gene_variant,,ENST00000465297,;AOX1,upstream_gene_variant,,ENST00000485965,;	1044	93	64	SUCCESS
CDK15	65061	.	GRCh37	2	202672587	202672587	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	49	0	ENST00000450471.2:c.280A>T	p.Ser94Cys	p.S94C	ENST00000450471	NM_001261435.1	94	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS58747.1	280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGCCTC	NONE	.	.	hmmpanther:PTHR24056:SF159,hmmpanther:PTHR24056	.	.	ENSP00000406472	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000450471	Transcript	.	.	ENSG00000138395	14434	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.05)	.	CDK15_HUMAN	CDK15	HGNC	.	.	UPI0001D3BDAF	SNV	CDK15,missense_variant,p.Ser94Cys,ENST00000434439,;CDK15,missense_variant,p.Ser94Cys,ENST00000450471,;CDK15,missense_variant,p.Ser43Cys,ENST00000260967,;CDK15,missense_variant,p.Ser43Cys,ENST00000410091,;CDK15,missense_variant,p.Ser94Cys,ENST00000374598,;Y_RNA,upstream_gene_variant,,ENST00000365267,;CDK15,non_coding_transcript_exon_variant,,ENST00000493754,;CDK15,non_coding_transcript_exon_variant,,ENST00000488419,;CDK15,missense_variant,p.Arg44Ser,ENST00000451080,;	366	49	50	SUCCESS
AC079354.1	0	.	GRCh37	2	202962302	202962302	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	16	100	1	ENST00000541917.1:c.828+2T>C		p.X276_splice	ENST00000541917		276		0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGTACCAT	NONE	.	.	.	.	.	ENSP00000437957	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000541917	Transcript	.	.	ENSG00000182329	.	.	.	HIGH	5/14	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC079354.1	Clone_based_vega_gene	F5H626_HUMAN	.	UPI00020659C3	SNV	AC079354.1,splice_donor_variant,,ENST00000295844,;AC079354.1,splice_donor_variant,,ENST00000541917,;AC079354.1,upstream_gene_variant,,ENST00000498697,;AC079354.1,splice_donor_variant,,ENST00000459709,;AC079354.1,splice_donor_variant,,ENST00000409515,;	.	101	96	SUCCESS
CARF	79800	.	GRCh37	2	203834660	203834660	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	104	240	0	ENST00000402905.3:c.972A>G	p.Val324=	p.V324=	ENST00000402905	NM_001104586.1	324	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS42801.1	972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTACAGAA	NONE	.	.	hmmpanther:PTHR14694,hmmpanther:PTHR14694:SF1,Pfam_domain:PF15299	.	.	ENSP00000384006	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000402905	Transcript	.	.	ENSG00000138380	14435	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CARTF_HUMAN	CARF	HGNC	C9JT99_HUMAN,C9JZI6_HUMAN,C9JZ91_HUMAN,C9JSN4_HUMAN,C9JL40_HUMAN,C9JI92_HUMAN,C9JCD6_HUMAN,C9JBK9_HUMAN	.	UPI000007284D	SNV	CARF,synonymous_variant,p.%3D,ENST00000320443,;CARF,synonymous_variant,p.%3D,ENST00000545253,;CARF,synonymous_variant,p.%3D,ENST00000438828,;CARF,synonymous_variant,p.%3D,ENST00000428585,;CARF,synonymous_variant,p.%3D,ENST00000402905,;CARF,synonymous_variant,p.%3D,ENST00000414439,;CARF,synonymous_variant,p.%3D,ENST00000545262,;CARF,3_prime_UTR_variant,,ENST00000456821,;WDR12,intron_variant,,ENST00000477723,;CARF,downstream_gene_variant,,ENST00000471271,;CARF,synonymous_variant,p.%3D,ENST00000422368,;CARF,3_prime_UTR_variant,,ENST00000457031,;	1293	240	191	SUCCESS
PARD3B	117583	.	GRCh37	2	205989084	205989084	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	45	133	1	ENST00000406610.2:c.1199G>T	p.Arg400Ile	p.R400I	ENST00000406610	NM_205863.3	400	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS42806.1	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCAGAGACT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR16484:SF9,hmmpanther:PTHR16484,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000351618	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000358768	Transcript	.	.	ENSG00000116117	14446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	PAR3L_HUMAN	PARD3B	HGNC	Q587I4_HUMAN,Q53TQ6_HUMAN,Q53TP8_HUMAN,Q53TL6_HUMAN,Q53TI4_HUMAN,Q53T65_HUMAN,Q53SN0_HUMAN,Q4ZG80_HUMAN	.	UPI000007201E	SNV	PARD3B,missense_variant,p.Arg400Ile,ENST00000349953,;PARD3B,missense_variant,p.Arg400Ile,ENST00000358768,;PARD3B,missense_variant,p.Arg400Ile,ENST00000406610,;PARD3B,missense_variant,p.Arg400Ile,ENST00000351153,;PARD3B,missense_variant,p.Arg400Ile,ENST00000462231,;PARD3B,downstream_gene_variant,,ENST00000489565,;	1199	134	119	SUCCESS
ADAM23	8745	.	GRCh37	2	207346034	207346034	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	104	221	0	ENST00000264377.3:c.509+2T>C		p.X170_splice	ENST00000264377	NM_003812.3	170		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGTGAGTA	NONE	.	.	.	.	.	ENSP00000264377	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	HIGH	3/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,splice_donor_variant,,ENST00000374415,;ADAM23,splice_donor_variant,,ENST00000374416,;ADAM23,splice_donor_variant,,ENST00000264377,;	.	221	228	SUCCESS
ADAM23	8745	.	GRCh37	2	207424750	207424750	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	79	0	ENST00000264377.3:c.1077T>A	p.Ile359=	p.I359=	ENST00000264377	NM_003812.3	359	atT/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS2369.1	1077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATTGACAT	NONE	.	.	Superfamily_domains:SSF55486,Pfam_domain:PF01421,Gene3D:3.40.390.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50215	.	.	ENSP00000264377	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,synonymous_variant,p.%3D,ENST00000374415,;ADAM23,synonymous_variant,p.%3D,ENST00000374416,;ADAM23,synonymous_variant,p.%3D,ENST00000264377,;	1405	79	56	SUCCESS
ADAM23	8745	.	GRCh37	2	207436495	207436495	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	43	0	ENST00000264377.3:c.1611G>T	p.Gly537=	p.G537=	ENST00000264377	NM_003812.3	537	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS2369.1	1611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGGGGCTCA	NONE	.	.	Superfamily_domains:SSF57552,SMART_domains:SM00050,Pfam_domain:PF00200,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50214	.	.	ENSP00000264377	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000264377	Transcript	.	.	ENSG00000114948	202	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA23_HUMAN	ADAM23	HGNC	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN	.	UPI0000044543	SNV	ADAM23,synonymous_variant,p.%3D,ENST00000374415,;ADAM23,synonymous_variant,p.%3D,ENST00000374416,;ADAM23,synonymous_variant,p.%3D,ENST00000264377,;	1939	43	47	SUCCESS
C2orf80	389073	.	GRCh37	2	209047758	209047758	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762765238	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	94	0	ENST00000341287.4:c.137T>C	p.Leu46Ser	p.L46S	ENST00000341287	NM_001099334.2	46	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS42809.1	137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAAGTCA	NONE	.	.	.	.	.	ENSP00000343171	.	4/9	.	.	.	.	.	.	.	.	rs762765238	4/9	PASS	ENST00000341287	Transcript	.	.	ENSG00000188674	34352	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	CB080_HUMAN	C2orf80	HGNC	C9JTX0_HUMAN,C9JAS9_HUMAN	.	UPI00001D7E1A	SNV	C2orf80,missense_variant,p.Leu27Ser,ENST00000451346,;C2orf80,missense_variant,p.Leu46Ser,ENST00000449053,;C2orf80,missense_variant,p.Leu46Ser,ENST00000341287,;C2orf80,missense_variant,p.Leu46Ser,ENST00000453017,;C2orf80,5_prime_UTR_variant,,ENST00000423952,;C2orf80,upstream_gene_variant,,ENST00000428015,;C2orf80,upstream_gene_variant,,ENST00000451342,;	333	94	74	SUCCESS
PTH2R	5746	.	GRCh37	2	209345825	209345825	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	63	165	0	ENST00000272847.2:c.1012A>T	p.Arg338Ter	p.R338*	ENST00000272847	NM_005048.3	338	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS2383.1	1012	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTTAGAGTT	NONE	.	.	Prints_domain:PR00249,Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	.	.	ENSP00000272847	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000272847	Transcript	.	.	ENSG00000144407	9609	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTH2R_HUMAN	PTH2R	HGNC	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN	.	UPI000005041E	SNV	PTH2R,stop_gained,p.Arg338Ter,ENST00000272847,;AC019185.4,intron_variant,,ENST00000424628,;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;	1225	165	162	SUCCESS
UNC80	285175	.	GRCh37	2	210843330	210843330	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763637660	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	48	141	0	ENST00000439458.1:c.8818C>A	p.Arg2940Ser	p.R2940S	ENST00000439458	NM_032504.1	2940	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46504.1	8818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCGCTCT	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	58/64	.	.	.	.	.	.	.	.	rs763637660	58/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Arg2940Ser,ENST00000439458,;UNC80,missense_variant,p.Arg2935Ser,ENST00000272845,;UNC80,missense_variant,p.Arg386Ser,ENST00000539183,;UNC80,missense_variant,p.Arg466Ser,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	8898	141	103	SUCCESS
APOB	338	.	GRCh37	2	21231036	21231036	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	45	100	0	ENST00000233242.1:c.8704A>T	p.Ser2902Cys	p.S2902C	ENST00000233242	NM_000384.2	2902	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS1703.1	8704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTAGAGA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	SNV	APOB,missense_variant,p.Ser2902Cys,ENST00000233242,;	8832	100	103	SUCCESS
ABCA12	26154	.	GRCh37	2	215813373	215813373	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	64	134	0	ENST00000272895.7:c.7051C>A	p.His2351Asn	p.H2351N	ENST00000272895	NM_173076.2	2351	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS33372.1	7051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGTTCTT	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	.	.	ENSP00000272895	.	47/53	.	.	.	.	.	.	.	.	.	47/53	PASS	ENST00000272895	Transcript	.	.	ENSG00000144452	14637	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABCAC_HUMAN	ABCA12	HGNC	A0SYP7_HUMAN	.	UPI000019AB7A	SNV	ABCA12,missense_variant,p.His2033Asn,ENST00000389661,;ABCA12,missense_variant,p.His2351Asn,ENST00000272895,;AC072062.1,intron_variant,,ENST00000607412,;	7271	135	133	SUCCESS
MARCH4	0	.	GRCh37	2	217124264	217124264	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754169279	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	106	0	ENST00000273067.4:c.1004G>T	p.Arg335Leu	p.R335L	ENST00000273067	NM_020814.2	335	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS33376.1	1004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCGGGGG	NONE	byFrequency	.	hmmpanther:PTHR23012:SF51,hmmpanther:PTHR23012	.	.	ENSP00000273067	.	4/4	.	.	.	.	.	.	.	.	rs754169279,COSM3909574	4/4	PASS	ENST00000273067	Transcript	.	.	ENSG00000144583	29269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.04)	.	tolerated(0.27)	0,1	MARH4_HUMAN	MARCH4	HGNC	.	.	UPI00001C1DB9	SNV	MARCH4,missense_variant,p.Arg335Leu,ENST00000273067,;AC012513.6,upstream_gene_variant,,ENST00000417481,;	2771	106	81	SUCCESS
TNS1	7145	.	GRCh37	2	218713037	218713037	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	97	0	ENST00000171887.4:c.1828G>T	p.Ala610Ser	p.A610S	ENST00000171887	NM_022648.4	610	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS2407.1	1828	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCATAGT	NONE	.	.	hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	.	.	ENSP00000171887	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000171887	Transcript	.	.	ENSG00000079308	11973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.43)	.	TENS1_HUMAN	TNS1	HGNC	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN	.	UPI0000456EEB	SNV	TNS1,missense_variant,p.Ala610Ser,ENST00000171887,;TNS1,missense_variant,p.Ala610Ser,ENST00000430930,;TNS1,missense_variant,p.Ala735Ser,ENST00000446903,;TNS1,missense_variant,p.Ala610Ser,ENST00000419504,;TNS1,downstream_gene_variant,,ENST00000413554,;TNS1,downstream_gene_variant,,ENST00000480665,;TNS1,downstream_gene_variant,,ENST00000479185,;	2281	97	84	SUCCESS
TTLL4	9654	.	GRCh37	2	219609870	219609870	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs758345708	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	37	141	0	ENST00000258398.4:c.1700A>T	p.His567Leu	p.H567L	ENST00000258398		567	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS2422.1	1700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCATGAGA	NONE	.	.	hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF9	.	.	ENSP00000375951	.	6/20	.	.	.	.	.	.	.	.	rs758345708	6/20	PASS	ENST00000392102	Transcript	.	.	ENSG00000135912	28976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.04)	.	TTLL4_HUMAN	TTLL4	HGNC	C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN	.	UPI000013EDFF	SNV	TTLL4,missense_variant,p.His567Leu,ENST00000258398,;TTLL4,missense_variant,p.His567Leu,ENST00000392102,;TTLL4,missense_variant,p.His402Leu,ENST00000457313,;TTLL4,missense_variant,p.His567Leu,ENST00000442769,;TTLL4,upstream_gene_variant,,ENST00000436668,;TTLL4,upstream_gene_variant,,ENST00000448224,;TTLL4,missense_variant,p.His11Leu,ENST00000417196,;TTLL4,upstream_gene_variant,,ENST00000491899,;TTLL4,upstream_gene_variant,,ENST00000475950,;TTLL4,upstream_gene_variant,,ENST00000494428,;TTLL4,upstream_gene_variant,,ENST00000465558,;TTLL4,upstream_gene_variant,,ENST00000434241,;TTLL4,upstream_gene_variant,,ENST00000480929,;TTLL4,upstream_gene_variant,,ENST00000467841,;TTLL4,upstream_gene_variant,,ENST00000480472,;TTLL4,upstream_gene_variant,,ENST00000461181,;	2040	141	105	SUCCESS
CDK5R2	8941	.	GRCh37	2	219825484	219825484	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	32	58	0	ENST00000302625.4:c.946del	p.His316ThrfsTer48	p.H316Tfs*48	ENST00000302625	NM_003936.4	314	gaC/ga	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS2427.1	942	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCCGACCCCCA	NONE	.	.	hmmpanther:PTHR23401:SF3,hmmpanther:PTHR23401,Pfam_domain:PF03261,Gene3D:1.10.472.10,PIRSF_domain:PIRSF009324,Superfamily_domains:SSF47954	.	.	ENSP00000304250	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302625	Transcript	.	.	ENSG00000171450	1776	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD5R2_HUMAN	CDK5R2	HGNC	Q96G76_HUMAN	.	UPI000012738F	deletion	CDK5R2,frameshift_variant,p.His316ThrfsTer48,ENST00000302625,;AC097468.7,intron_variant,,ENST00000429343,;	1108	58	100	SUCCESS
DES	1674	.	GRCh37	2	220285630	220285630	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375238266	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	61	0	ENST00000373960.3:c.978C>A	p.His326Gln	p.H326Q	ENST00000373960	NM_001927.3	326	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS33383.1	978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACACCAGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF28,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000363071	.	5/9	.	.	.	.	.	.	.	.	rs375238266	5/9	PASS	ENST00000373960	Transcript	.	.	ENSG00000175084	2770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	DESM_HUMAN	DES	HGNC	Q53SB5_HUMAN,Q9GZR6_HUMAN,Q2PUK1_HUMAN,L7R9R4_HUMAN	.	UPI0000001603	SNV	DES,missense_variant,p.His326Gln,ENST00000373960,;AC053503.6,downstream_gene_variant,,ENST00000431827,;DES,non_coding_transcript_exon_variant,,ENST00000492726,;DES,non_coding_transcript_exon_variant,,ENST00000477226,;DES,upstream_gene_variant,,ENST00000483395,;	1064	61	57	SUCCESS
SPEG	10290	.	GRCh37	2	220313082	220313082	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	25	0	ENST00000312358.7:c.1202T>A	p.Leu401Gln	p.L401Q	ENST00000312358	NM_005876.4	401	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS42824.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGGACA	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	4/41	.	.	.	.	.	.	.	.	.	4/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Leu248Gln,ENST00000431523,;SPEG,missense_variant,p.Leu297Gln,ENST00000396698,;SPEG,missense_variant,p.Leu401Gln,ENST00000312358,;SPEG,5_prime_UTR_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000491248,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000497065,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	1334	25	19	SUCCESS
SPEG	10290	.	GRCh37	2	220342465	220342465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	83	0	ENST00000312358.7:c.4784G>T	p.Arg1595Met	p.R1595M	ENST00000312358	NM_005876.4	1595	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS42824.1	4784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAGGAGAC	NONE	.	.	hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Superfamily_domains:SSF56112	.	.	ENSP00000311684	.	21/41	.	.	.	.	.	.	.	.	.	21/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.627)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Arg1595Met,ENST00000312358,;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000485069,;	4916	83	69	SUCCESS
CHPF	79586	.	GRCh37	2	220406616	220406616	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	70	0	ENST00000243776.6:c.610A>T	p.Thr204Ser	p.T204S	ENST00000243776	NM_024536.5	204	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS2443.1	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGTGTAGG	NONE	.	.	hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369	.	.	ENSP00000243776	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.12)	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	SNV	CHPF,missense_variant,p.Thr204Ser,ENST00000243776,;CHPF,missense_variant,p.Thr204Ser,ENST00000373891,;CHPF,missense_variant,p.Thr42Ser,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	859	70	51	SUCCESS
CCDC140	151278	.	GRCh37	2	223168828	223168828	+	synonymous_variant	Silent	SNP	A	A	T	rs567359483	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	105	259	0	ENST00000295226.1:c.207A>T	p.Pro69=	p.P69=	ENST00000295226	NM_153038.1	69	ccA/ccT	0	.	G:0.0008	.	G:0	.	T	P	protein_coding	YES	CCDS2452.1	207	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCAAGCCC	NONE	by1000G	.	.	G:0	.	ENSP00000295226	G:0	2/2	.	.	.	.	.	.	.	.	rs567359483	2/2	PASS	ENST00000295226	Transcript	.	G:0.0002	ENSG00000163081	26514	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CC140_HUMAN	CCDC140	HGNC	.	.	UPI000006ED1E	SNV	CCDC140,synonymous_variant,p.%3D,ENST00000295226,;CCDC140,downstream_gene_variant,,ENST00000440903,;	591	259	211	SUCCESS
DOCK10	55619	.	GRCh37	2	225635277	225635277	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	35	99	0	ENST00000258390.7:c.6290T>G	p.Leu2097Trp	p.L2097W	ENST00000258390	NM_014689.2	2097	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS46528.1	6290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCAAAAGC	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317,Pfam_domain:PF06920	.	.	ENSP00000258390	.	54/56	.	.	.	.	.	.	.	.	.	54/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,missense_variant,p.Leu2097Trp,ENST00000258390,;DOCK10,missense_variant,p.Leu2091Trp,ENST00000409592,;DOCK10,downstream_gene_variant,,ENST00000535663,;	6358	99	89	SUCCESS
COL4A4	1286	.	GRCh37	2	227875174	227875174	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	58	134	0	ENST00000396625.3:c.4377C>A	p.Gly1459=	p.G1459=	ENST00000396625	NM_000092.4	1459	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS42828.1	4377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGGCCAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021	.	.	ENSP00000379866	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,synonymous_variant,p.%3D,ENST00000329662,;COL4A4,synonymous_variant,p.%3D,ENST00000396625,;	4585	134	122	SUCCESS
AGFG1	3267	.	GRCh37	2	228398301	228398301	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	35	103	0	ENST00000310078.8:c.851A>T	p.His284Leu	p.H284L	ENST00000310078	NM_004504.4	284	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS46533.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCATTTTG	NONE	.	.	hmmpanther:PTHR23180:SF232,hmmpanther:PTHR23180	.	.	ENSP00000387282	.	8/14	.	.	.	.	.	.	.	.	.	8/14	PASS	ENST00000409979	Transcript	.	.	ENSG00000173744	5175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.3)	.	.	AGFG1	HGNC	.	.	UPI0001814801	SNV	AGFG1,missense_variant,p.His284Leu,ENST00000409171,;AGFG1,missense_variant,p.His206Leu,ENST00000456594,;AGFG1,missense_variant,p.His284Leu,ENST00000409315,;AGFG1,missense_variant,p.His308Leu,ENST00000409979,;AGFG1,missense_variant,p.His244Leu,ENST00000373671,;AGFG1,missense_variant,p.His284Leu,ENST00000310078,;AGFG1,upstream_gene_variant,,ENST00000458212,;	1193	103	81	SUCCESS
DAW1	164781	.	GRCh37	2	228762991	228762991	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	232	133	423	0	ENST00000309931.2:c.534A>T	p.Ala178=	p.A178=	ENST00000309931	NM_178821.1	178	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2470.1	534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCAGAAAT	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000311899	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000309931	Transcript	.	.	ENSG00000123977	26383	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAW1_HUMAN	DAW1	HGNC	G5EA46_HUMAN,C9JP90_HUMAN	.	UPI000006EAC6	SNV	DAW1,synonymous_variant,p.%3D,ENST00000545118,;DAW1,synonymous_variant,p.%3D,ENST00000309931,;DAW1,synonymous_variant,p.%3D,ENST00000373666,;DAW1,downstream_gene_variant,,ENST00000472604,;DAW1,3_prime_UTR_variant,,ENST00000454999,;	617	423	366	SUCCESS
SLC16A14	151473	.	GRCh37	2	230911189	230911189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	50	109	0	ENST00000295190.4:c.653C>A	p.Pro218Gln	p.P218Q	ENST00000295190	NM_152527.4	218	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS2473.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTTGGGTTT	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF121,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000295190	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000295190	Transcript	.	.	ENSG00000163053	26417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.23)	.	MOT14_HUMAN	SLC16A14	HGNC	C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN	.	UPI000004EE99	SNV	SLC16A14,missense_variant,p.Pro218Gln,ENST00000412034,;SLC16A14,missense_variant,p.Pro218Gln,ENST00000457406,;SLC16A14,missense_variant,p.Pro218Gln,ENST00000295190,;	1112	109	103	SUCCESS
CAB39	51719	.	GRCh37	2	231655654	231655654	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	58	163	0	ENST00000258418.5:c.182A>T	p.Glu61Val	p.E61V	ENST00000258418	NM_016289.3	61	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS2478.1	182	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAGCCTC	NONE	.	.	hmmpanther:PTHR10182,hmmpanther:PTHR10182:SF11,Pfam_domain:PF08569,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000258418	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000258418	Transcript	.	.	ENSG00000135932	20292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.658)	.	deleterious(0.02)	.	CAB39_HUMAN	CAB39	HGNC	Q53RN7_HUMAN,A8K8L7_HUMAN	.	UPI000003622D	SNV	CAB39,missense_variant,p.Glu61Val,ENST00000409788,;CAB39,missense_variant,p.Glu61Val,ENST00000410084,;CAB39,missense_variant,p.Glu61Val,ENST00000258418,;CAB39,non_coding_transcript_exon_variant,,ENST00000484398,;CAB39,non_coding_transcript_exon_variant,,ENST00000478152,;	611	163	145	SUCCESS
PSMD1	5707	.	GRCh37	2	231944930	231944930	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	100	0	ENST00000308696.6:c.1315G>A	p.Glu439Lys	p.E439K	ENST00000308696	NM_002807.3	439	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS2482.1	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGGAAGGT	NONE	.	.	hmmpanther:PTHR10943,PIRSF_domain:PIRSF015947,Superfamily_domains:SSF48371	.	.	ENSP00000309474	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000308696	Transcript	.	.	ENSG00000173692	9554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	deleterious(0)	.	PSMD1_HUMAN	PSMD1	HGNC	.	.	UPI00001678A2	SNV	PSMD1,missense_variant,p.Glu439Lys,ENST00000409643,;PSMD1,missense_variant,p.Glu439Lys,ENST00000373635,;PSMD1,missense_variant,p.Glu439Lys,ENST00000308696,;PSMD1,downstream_gene_variant,,ENST00000444007,;PSMD1,upstream_gene_variant,,ENST00000447633,;PSMD1,upstream_gene_variant,,ENST00000488354,;PSMD1,3_prime_UTR_variant,,ENST00000431051,;	1477	100	79	SUCCESS
DIS3L2	129563	.	GRCh37	2	232889007	232889007	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	215	156	442	0	ENST00000325385.7:c.231A>T	p.Pro77=	p.P77=	ENST00000325385	NM_152383.4	77	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS42834.1	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAAAGAA	NONE	.	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249	.	.	ENSP00000315569	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,synonymous_variant,p.%3D,ENST00000273009,;DIS3L2,synonymous_variant,p.%3D,ENST00000325385,;DIS3L2,synonymous_variant,p.%3D,ENST00000441279,;DIS3L2,synonymous_variant,p.%3D,ENST00000409401,;DIS3L2,synonymous_variant,p.%3D,ENST00000360410,;DIS3L2,synonymous_variant,p.%3D,ENST00000409307,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000470087,;DIS3L2,synonymous_variant,p.%3D,ENST00000445090,;DIS3L2,synonymous_variant,p.%3D,ENST00000433430,;DIS3L2,synonymous_variant,p.%3D,ENST00000390005,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000464554,;	507	442	372	SUCCESS
DIS3L2	129563	.	GRCh37	2	233001416	233001416	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	58	110	0	ENST00000325385.7:c.937A>G	p.Asn313Asp	p.N313D	ENST00000325385	NM_152383.4	313	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS42834.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAATTTT	NONE	.	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249	.	.	ENSP00000315569	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.549)	.	tolerated(0.13)	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,missense_variant,p.Asn313Asp,ENST00000273009,;DIS3L2,missense_variant,p.Asn313Asp,ENST00000325385,;DIS3L2,missense_variant,p.Asn313Asp,ENST00000409307,;DIS3L2,synonymous_variant,p.%3D,ENST00000360410,;DIS3L2,downstream_gene_variant,,ENST00000409401,;DIS3L2,missense_variant,p.Asn313Asp,ENST00000390005,;DIS3L2,synonymous_variant,p.%3D,ENST00000433430,;DIS3L2,intron_variant,,ENST00000445090,;	1213	110	118	SUCCESS
ALPP	250	.	GRCh37	2	233243486	233243486	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	43	0	ENST00000392027.2:c.-27T>A		p.*9*	ENST00000392027	NM_001632.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTCGCCA	NONE	.	.	.	.	.	ENSP00000375881	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000392027	Transcript	.	.	ENSG00000163283	439	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,5_prime_UTR_variant,,ENST00000392027,;AC068134.8,downstream_gene_variant,,ENST00000439072,;AC068134.8,downstream_gene_variant,,ENST00000441266,;ALPP,non_coding_transcript_exon_variant,,ENST00000474529,;ALPP,upstream_gene_variant,,ENST00000485563,;	243	43	32	SUCCESS
UGT1A10	54575	.	GRCh37	2	234545950	234545950	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	81	0	ENST00000344644.5:c.782A>G	p.Tyr261Cys	p.Y261C	ENST00000344644	NM_019075.2	261	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33403.1	782	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTATCCCA	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000343838	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000344644	Transcript	.	.	ENSG00000242515	12531	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	deleterious(0)	.	UD110_HUMAN	UGT1A10	HGNC	Q5DT02_HUMAN,Q13406_HUMAN	.	UPI000006D7E8	SNV	UGT1A10,missense_variant,p.Tyr261Cys,ENST00000373445,;UGT1A10,missense_variant,p.Tyr261Cys,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;	851	81	76	SUCCESS
MROH2A	339766	.	GRCh37	2	234737617	234737617	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	123	0	ENST00000389758.3:c.4345G>T	p.Gly1449Cys	p.G1449C	ENST00000389758		1449	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	.	4345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGGCATG	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371	.	.	ENSP00000374408	.	37/42	.	.	.	.	.	.	.	.	.	37/42	PASS	ENST00000389758	Transcript	.	.	ENSG00000185038	27936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.962)	.	deleterious(0.03)	.	.	MROH2A	HGNC	F8VUA0_HUMAN,C9IYW5_HUMAN	.	UPI0003B9285E	SNV	MROH2A,missense_variant,p.Gly1449Cys,ENST00000389758,;MROH2A,non_coding_transcript_exon_variant,,ENST00000487979,;HJURP,downstream_gene_variant,,ENST00000433484,;	4511	123	103	SUCCESS
SPP2	6694	.	GRCh37	2	234978570	234978570	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	32	68	0	ENST00000168148.3:c.551-2A>G		p.X184_splice	ENST00000168148	NM_006944.2	184		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2511.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTAGGGAT	NONE	.	.	.	.	.	ENSP00000168148	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000168148	Transcript	.	.	ENSG00000072080	11256	.	.	HIGH	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPP24_HUMAN	SPP2	HGNC	C9J6K0_HUMAN	.	UPI0000135D66	SNV	SPP2,splice_acceptor_variant,,ENST00000373368,;SPP2,splice_acceptor_variant,,ENST00000168148,;SPP2,splice_acceptor_variant,,ENST00000425558,;	.	68	64	SUCCESS
COL6A3	1293	.	GRCh37	2	238275483	238275483	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	52	189	0	ENST00000295550.4:c.5347T>A	p.Ser1783Thr	p.S1783T	ENST00000295550	NM_004369.3	1783	Tcg/Acg	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS33412.1	5347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGAGTCGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	11/44	.	.	.	.	.	.	.	.	.	11/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Ser1176Thr,ENST00000472056,;COL6A3,missense_variant,p.Ser1577Thr,ENST00000409809,;COL6A3,missense_variant,p.Ser1783Thr,ENST00000295550,;COL6A3,missense_variant,p.Ser1582Thr,ENST00000347401,;COL6A3,missense_variant,p.Ser1583Thr,ENST00000346358,;COL6A3,missense_variant,p.Ser1577Thr,ENST00000353578,;COL6A3,downstream_gene_variant,,ENST00000392003,;COL6A3,downstream_gene_variant,,ENST00000392004,;	5800	189	124	SUCCESS
COL6A3	1293	.	GRCh37	2	238303641	238303641	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	53	154	0	ENST00000295550.4:c.298del	p.Gln100LysfsTer23	p.Q100Kfs*23	ENST00000295550	NM_004369.3	100	Caa/aa	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS33412.1	298	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTTGTTTAG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000295550	.	3/44	.	.	.	.	.	.	.	.	.	3/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	deletion	COL6A3,frameshift_variant,p.Gln100LysfsTer23,ENST00000295550,;COL6A3,frameshift_variant,p.Gln100LysfsTer23,ENST00000433762,;COL6A3,frameshift_variant,p.Gln100LysfsTer23,ENST00000347401,;COL6A3,frameshift_variant,p.Gln100LysfsTer23,ENST00000346358,;COL6A3,intron_variant,,ENST00000392003,;COL6A3,intron_variant,,ENST00000472056,;COL6A3,intron_variant,,ENST00000409809,;COL6A3,intron_variant,,ENST00000353578,;COL6A3,intron_variant,,ENST00000392004,;	751	154	174	SUCCESS
OTOF	9381	.	GRCh37	2	26699020	26699020	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	15	41	0	ENST00000272371.2:c.2842C>T	p.Pro948Ser	p.P948S	ENST00000272371	NM_194248.2	948	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS1725.1	2842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGGGAAGG	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150	.	.	ENSP00000272371	.	23/47	.	.	.	.	.	.	.	.	.	23/47	PASS	ENST00000272371	Transcript	.	.	ENSG00000115155	8515	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	OTOF_HUMAN	OTOF	HGNC	.	.	UPI000013D94D	SNV	OTOF,missense_variant,p.Pro948Ser,ENST00000403946,;OTOF,missense_variant,p.Pro201Ser,ENST00000338581,;OTOF,missense_variant,p.Pro948Ser,ENST00000272371,;OTOF,missense_variant,p.Pro201Ser,ENST00000339598,;OTOF,missense_variant,p.Pro258Ser,ENST00000402415,;OTOF,upstream_gene_variant,,ENST00000426958,;	2969	41	43	SUCCESS
PLB1	151056	.	GRCh37	2	28817131	28817131	+	intron_variant	Intron	SNP	T	T	C	rs534434519	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	16	0	ENST00000327757.5:c.2321+510T>C		p.*774*	ENST00000327757	NM_153021.4			0	.	A:0	.	A:0	.	C	.	protein_coding	YES	CCDS33168.1	.	MUTECT|MUSE	.	AAAGATTAGCA	NONE	by1000G	.	.	A:0	.	ENSP00000330442	A:0	.	.	.	.	.	.	.	.	.	rs534434519	.	PASS	ENST00000327757	Transcript	.	A:0.0002	ENSG00000163803	30041	.	.	MODIFIER	33/57	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,3_prime_UTR_variant,,ENST00000436544,;PLB1,3_prime_UTR_variant,,ENST00000329020,;PLB1,intron_variant,,ENST00000327757,;PLB1,intron_variant,,ENST00000422425,;PLB1,intron_variant,,ENST00000404858,;PLB1,downstream_gene_variant,,ENST00000481449,;	.	16	13	SUCCESS
C2orf71	0	.	GRCh37	2	29296302	29296302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	58	0	ENST00000331664.5:c.826A>T	p.Ser276Cys	p.S276C	ENST00000331664	NM_001029883.2	276	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS42669.1	826	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCTGACTG	NONE	.	.	hmmpanther:PTHR22017,Pfam_domain:PF15449	.	.	ENSP00000332809	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331664	Transcript	.	.	ENSG00000179270	34383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.1)	.	CB071_HUMAN	C2orf71	HGNC	.	.	UPI0000251DD8	SNV	C2orf71,missense_variant,p.Ser276Cys,ENST00000331664,;	826	58	50	SUCCESS
CAPN13	92291	.	GRCh37	2	30966296	30966296	+	synonymous_variant	Silent	SNP	T	T	A	rs757121737	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	123	0	ENST00000295055.8:c.1398A>T	p.Ser466=	p.S466=	ENST00000295055	NM_144575.2	466	tcA/tcT	0	-:0.0003	.	.	.	.	A	S	protein_coding	YES	CCDS46252.1	1398	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCTGATTT	NONE	byFrequency	.	hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:2.60.120.380,Pfam_domain:PF01067,Superfamily_domains:SSF49758,Prints_domain:PR00704	.	-:0	ENSP00000295055	.	13/23	.	.	.	.	.	.	.	.	rs757121737	13/23	PASS	ENST00000295055	Transcript	.	.	ENSG00000162949	16663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN13_HUMAN	CAPN13	HGNC	.	.	UPI00000463E5	SNV	CAPN13,synonymous_variant,p.%3D,ENST00000534090,;CAPN13,synonymous_variant,p.%3D,ENST00000295055,;CAPN13,synonymous_variant,p.%3D,ENST00000450650,;CAPN13,3_prime_UTR_variant,,ENST00000458085,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465450,;AC092569.2,downstream_gene_variant,,ENST00000455192,;	1575	123	96	SUCCESS
BIRC6	57448	.	GRCh37	2	32726807	32726807	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	90	0	ENST00000421745.2:c.9059A>C	p.His3020Pro	p.H3020P	ENST00000421745	NM_016252.3	3020	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS33175.2	9059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACATGAAA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	47/74	.	.	.	.	.	.	.	.	.	47/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.963)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.His3020Pro,ENST00000421745,;BIRC6,upstream_gene_variant,,ENST00000497023,;	9193	90	84	SUCCESS
BIRC6	57448	.	GRCh37	2	32750644	32750644	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	34	100	0	ENST00000421745.2:c.11869A>C	p.Asn3957His	p.N3957H	ENST00000421745	NM_016252.3	3957	Aac/Cac	0	.	.	.	.	.	C	N/H	protein_coding	YES	CCDS33175.2	11869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCAACAAA	NONE	.	.	hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	59/74	.	.	.	.	.	.	.	.	.	59/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Asn3957His,ENST00000421745,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;	12003	101	103	SUCCESS
TTC27	55622	.	GRCh37	2	32891805	32891805	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	102	0	ENST00000317907.4:c.909A>T	p.Pro303=	p.P303=	ENST00000317907	NM_017735.4	303	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS33176.1	909	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGCACC	NONE	.	.	hmmpanther:PTHR16193	.	.	ENSP00000313953	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000317907	Transcript	.	.	ENSG00000018699	25986	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC27_HUMAN	TTC27	HGNC	C9JVS4_HUMAN,B4DRC7_HUMAN	.	UPI0000208226	SNV	TTC27,synonymous_variant,p.%3D,ENST00000317907,;TTC27,intron_variant,,ENST00000454690,;	1140	102	50	SUCCESS
VIT	5212	.	GRCh37	2	36982076	36982076	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	37	92	0	ENST00000389975.3:c.288T>A	p.Asp96Glu	p.D96E	ENST00000389975	NM_001177970.1	96	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS33180.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATAATTC	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR22992:SF3,hmmpanther:PTHR22992,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000368544	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000379242	Transcript	.	.	ENSG00000205221	12697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.209)	.	tolerated(0.09)	.	VITRN_HUMAN	VIT	HGNC	C9J6F5_HUMAN	.	UPI000006E0F8	SNV	VIT,missense_variant,p.Asp74Glu,ENST00000404084,;VIT,missense_variant,p.Asp96Glu,ENST00000457137,;VIT,missense_variant,p.Asp96Glu,ENST00000389975,;VIT,missense_variant,p.Asp96Glu,ENST00000379242,;VIT,missense_variant,p.Asp96Glu,ENST00000401530,;VIT,missense_variant,p.Asp96Glu,ENST00000379241,;VIT,5_prime_UTR_variant,,ENST00000497382,;	590	92	93	SUCCESS
VIT	5212	.	GRCh37	2	37035640	37035640	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1483126309	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	147	0	ENST00000389975.3:c.1370A>G	p.Tyr457Cys	p.Y457C	ENST00000389975	NM_001177970.1	457	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS33180.1	1415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTACTCGC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF3,hmmpanther:PTHR22992,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000368544	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000379242	Transcript	.	.	ENSG00000205221	12697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	VITRN_HUMAN	VIT	HGNC	C9J6F5_HUMAN	.	UPI000006E0F8	SNV	VIT,missense_variant,p.Tyr409Cys,ENST00000404084,;VIT,missense_variant,p.Tyr457Cys,ENST00000389975,;VIT,missense_variant,p.Tyr472Cys,ENST00000379242,;VIT,missense_variant,p.Tyr436Cys,ENST00000401530,;VIT,missense_variant,p.Tyr435Cys,ENST00000379241,;VIT,missense_variant,p.Tyr126Cys,ENST00000497382,;	1717	147	94	SUCCESS
SIX2	10736	.	GRCh37	2	45235999	45235999	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	46	0	ENST00000303077.6:c.251A>T	p.Gln84Leu	p.Q84L	ENST00000303077	NM_016932.4	84	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1822.1	251	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGCAGC	NONE	.	.	hmmpanther:PTHR10390:SF29,hmmpanther:PTHR10390	.	.	ENSP00000304502	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000303077	Transcript	.	.	ENSG00000170577	10888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	SIX2_HUMAN	SIX2	HGNC	.	.	UPI00001359C0	SNV	SIX2,missense_variant,p.Gln84Leu,ENST00000303077,;AC093702.1,downstream_gene_variant,,ENST00000423433,;	571	46	45	SUCCESS
TMEM247	388946	.	GRCh37	2	46706740	46706740	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	107	0	ENST00000434431.1:c.16A>G	p.Arg6Gly	p.R6G	ENST00000434431	NM_001145051.2	6	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS56117.1	16	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGGGAG	NONE	.	.	Pfam_domain:PF15444	.	.	ENSP00000388684	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000434431	Transcript	.	.	ENSG00000187600	42967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	deleterious_low_confidence(0.02)	.	TM247_HUMAN	TMEM247	HGNC	.	.	UPI0000366EF8	SNV	TMEM247,missense_variant,p.Arg6Gly,ENST00000434431,;TMEM247,intron_variant,,ENST00000432241,;	16	107	96	SUCCESS
MCFD2	90411	.	GRCh37	2	47134956	47134956	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746904307	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	42	0	ENST00000319466.4:c.302A>G	p.His101Arg	p.H101R	ENST00000319466	NM_139279.5	101	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS33192.1	302	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATGGACA	NONE	byFrequency	.	PROSITE_profiles:PS50222,hmmpanther:PTHR23104:SF5,hmmpanther:PTHR23104,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	.	.	ENSP00000386651	.	4/5	.	.	.	.	.	.	.	.	rs746904307	4/5	PASS	ENST00000409105	Transcript	.	.	ENSG00000180398	18451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	MCFD2_HUMAN	MCFD2	HGNC	C9JTR4_HUMAN	.	UPI000005275E	SNV	MCFD2,missense_variant,p.His49Arg,ENST00000409800,;MCFD2,missense_variant,p.His101Arg,ENST00000319466,;MCFD2,missense_variant,p.His49Arg,ENST00000409913,;MCFD2,missense_variant,p.His82Arg,ENST00000444761,;MCFD2,missense_variant,p.His101Arg,ENST00000409105,;MCFD2,missense_variant,p.His101Arg,ENST00000409207,;MCFD2,missense_variant,p.His101Arg,ENST00000412438,;MCFD2,missense_variant,p.His101Arg,ENST00000409218,;MCFD2,missense_variant,p.His49Arg,ENST00000409147,;MCFD2,missense_variant,p.His68Arg,ENST00000434262,;MCFD2,missense_variant,p.His101Arg,ENST00000409973,;MCFD2,downstream_gene_variant,,ENST00000417180,;AC016722.4,non_coding_transcript_exon_variant,,ENST00000429761,;MCFD2,intron_variant,,ENST00000470873,;MCFD2,intron_variant,,ENST00000493804,;MCFD2,non_coding_transcript_exon_variant,,ENST00000477791,;MCFD2,non_coding_transcript_exon_variant,,ENST00000479225,;MCFD2,downstream_gene_variant,,ENST00000487121,;	482	42	34	SUCCESS
STON1-GTF2A1L	286749	.	GRCh37	2	48808054	48808054	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	44	128	0	ENST00000394754.1:c.285del	p.Ala97GlnfsTer53	p.A97Qfs*53	ENST00000394754	NM_172311.2	94	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS1840.1	282	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCATCCCCAA	NONE	.	.	hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18	.	.	ENSP00000378236	.	2/11	.	.	.	.	.	.	.	.	COSM721710,COSM721709	2/11	PASS	ENST00000394754	Transcript	.	.	ENSG00000068781	30651	3	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	.	STON1-GTF2A1L	HGNC	Q53S48_HUMAN	.	UPI000013C976	deletion	STON1-GTF2A1L,frameshift_variant,p.Ala97GlnfsTer53,ENST00000309827,;STON1-GTF2A1L,frameshift_variant,p.Ala97GlnfsTer53,ENST00000394754,;STON1,frameshift_variant,p.Ala97GlnfsTer53,ENST00000406226,;STON1-GTF2A1L,frameshift_variant,p.Ala97GlnfsTer53,ENST00000402114,;STON1-GTF2A1L,frameshift_variant,p.Ala97GlnfsTer53,ENST00000405008,;STON1-GTF2A1L,frameshift_variant,p.Ala97GlnfsTer53,ENST00000394751,;STON1,frameshift_variant,p.Ala97GlnfsTer53,ENST00000404752,;STON1,frameshift_variant,p.Ala97GlnfsTer53,ENST00000309835,;STON1,upstream_gene_variant,,ENST00000444932,;	396	128	143	SUCCESS
LHCGR	3973	.	GRCh37	2	48925836	48925836	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	59	1	ENST00000294954.7:c.784A>T	p.Arg262Ter	p.R262*	ENST00000294954	NM_000233.3	262	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1842.1	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTTGATG	NONE	.	.	hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1	.	.	ENSP00000294954	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,stop_gained,p.Arg262Ter,ENST00000403273,;LHCGR,stop_gained,p.Arg262Ter,ENST00000405626,;LHCGR,stop_gained,p.Arg262Ter,ENST00000401907,;LHCGR,stop_gained,p.Arg262Ter,ENST00000294954,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,intron_variant,,ENST00000344775,;LHCGR,3_prime_UTR_variant,,ENST00000602369,;	806	60	52	SUCCESS
FSHR	2492	.	GRCh37	2	49190265	49190265	+	synonymous_variant	Silent	SNP	A	A	G	rs758780668	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	32	79	0	ENST00000406846.2:c.1695T>C	p.Ser565=	p.S565=	ENST00000406846	NM_000145.3	565	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS1843.1	1695	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTAGAGGA	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24372:SF5,hmmpanther:PTHR24372,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000384708	.	10/10	.	.	.	.	.	.	.	.	rs758780668	10/10	PASS	ENST00000406846	Transcript	.	.	ENSG00000170820	3969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSHR_HUMAN	FSHR	HGNC	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN	.	UPI000013E97A	SNV	FSHR,synonymous_variant,p.%3D,ENST00000346173,;FSHR,synonymous_variant,p.%3D,ENST00000541117,;FSHR,synonymous_variant,p.%3D,ENST00000304421,;FSHR,synonymous_variant,p.%3D,ENST00000406846,;FSHR,downstream_gene_variant,,ENST00000454032,;	1815	79	69	SUCCESS
NRXN1	9378	.	GRCh37	2	50463975	50463975	+	synonymous_variant	Silent	SNP	C	C	A	rs200816799	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	52	130	0	ENST00000406316.2:c.3498G>T	p.Val1166=	p.V1166=	ENST00000406316	NM_004801.4	1166	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46282.1	3618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGCACCAA	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000385142	.	19/24	.	.	.	.	.	.	.	.	rs200816799	19/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,synonymous_variant,p.%3D,ENST00000405472,;NRXN1,synonymous_variant,p.%3D,ENST00000401710,;NRXN1,synonymous_variant,p.%3D,ENST00000404971,;NRXN1,synonymous_variant,p.%3D,ENST00000406316,;NRXN1,synonymous_variant,p.%3D,ENST00000401669,;NRXN1,synonymous_variant,p.%3D,ENST00000406859,;NRXN1,synonymous_variant,p.%3D,ENST00000342183,;NRXN1,synonymous_variant,p.%3D,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;	4958	130	129	SUCCESS
SPTBN1	6711	.	GRCh37	2	54874335	54874335	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	72	0	ENST00000356805.4:c.4934C>A	p.Ala1645Glu	p.A1645E	ENST00000356805	NM_003128.2	1645	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS33198.1	4934	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGCAGAGA	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226	.	.	ENSP00000349259	.	24/36	.	.	.	.	.	.	.	.	.	24/36	PASS	ENST00000356805	Transcript	.	.	ENSG00000115306	11275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.673)	.	tolerated(0.19)	.	SPTB2_HUMAN	SPTBN1	HGNC	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN	.	UPI0000DBEE4B	SNV	SPTBN1,missense_variant,p.Ala1632Glu,ENST00000333896,;SPTBN1,missense_variant,p.Ala1645Glu,ENST00000356805,;	5215	72	55	SUCCESS
MTIF2	4528	.	GRCh37	2	55479663	55479663	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	82	135	0	ENST00000263629.4:c.791G>T	p.Gly264Val	p.G264V	ENST00000263629	NM_002453.2	264	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS1853.1	791	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCCATCA	NONE	.	.	HAMAP:MF_00100_B,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF113,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00009,Superfamily_domains:SSF52540	.	.	ENSP00000378099	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000394600	Transcript	.	.	ENSG00000085760	7441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	IF2M_HUMAN	MTIF2	HGNC	E7EW07_HUMAN,E7ESE3_HUMAN,C9JIY5_HUMAN,B5MCU1_HUMAN	.	UPI000013D42F	SNV	MTIF2,missense_variant,p.Gly264Val,ENST00000394600,;MTIF2,missense_variant,p.Gly264Val,ENST00000403721,;MTIF2,missense_variant,p.Gly264Val,ENST00000263629,;MTIF2,upstream_gene_variant,,ENST00000418823,;MTIF2,downstream_gene_variant,,ENST00000417741,;MTIF2,downstream_gene_variant,,ENST00000446660,;	1528	135	165	SUCCESS
PNPT1	87178	.	GRCh37	2	55910944	55910944	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	T	T	A	rs758544175	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	112	309	1	ENST00000415374.1:c.429A>T	p.Pro143=	p.P143=	ENST00000415374		143	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1856.1	429	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTGGAAA	NONE	.	.	Superfamily_domains:SSF54211,PIRSF_domain:PIRSF005499,Gene3D:1e3hA01,Pfam_domain:PF01138,TIGRFAM_domain:TIGR03591,hmmpanther:PTHR11252:SF0,hmmpanther:PTHR11252	.	.	ENSP00000400646	.	5/28	.	.	.	.	.	.	.	.	rs758544175	5/28	PASS	ENST00000447944	Transcript	.	.	ENSG00000138035	23166	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNPT1_HUMAN	PNPT1	HGNC	.	.	UPI000020848E	SNV	PNPT1,synonymous_variant,p.%3D,ENST00000447944,;PNPT1,synonymous_variant,p.%3D,ENST00000415374,;PNPT1,synonymous_variant,p.%3D,ENST00000260604,;PNPT1,3_prime_UTR_variant,,ENST00000429805,;	516	310	255	SUCCESS
ARHGAP25	9938	.	GRCh37	2	68962241	68962241	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	63	0	ENST00000409202.3:c.-91A>C		p.*31*	ENST00000409202				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33214.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACAAAAAC	NONE	.	.	.	.	.	ENSP00000386911	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000409202	Transcript	.	.	ENSG00000163219	28951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG25_HUMAN	ARHGAP25	HGNC	C9JB56_HUMAN	.	UPI0000251EDD	SNV	ARHGAP25,5_prime_UTR_variant,,ENST00000409202,;ARHGAP25,5_prime_UTR_variant,,ENST00000467265,;ARHGAP25,5_prime_UTR_variant,,ENST00000295381,;ARHGAP25,intron_variant,,ENST00000544262,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000463061,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000456116,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000485573,;ARHGAP25,intron_variant,,ENST00000491237,;ARHGAP25,intron_variant,,ENST00000481684,;ARHGAP25,upstream_gene_variant,,ENST00000496266,;ARHGAP25,upstream_gene_variant,,ENST00000485700,;ARHGAP25,5_prime_UTR_variant,,ENST00000488795,;ARHGAP25,intron_variant,,ENST00000463483,;	275	63	65	SUCCESS
ARHGAP25	9938	.	GRCh37	2	69043297	69043297	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	11	0	ENST00000409202.3:c.808-124C>A		p.*270*	ENST00000409202				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33214.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAACAGGAA	NONE	.	.	.	.	.	ENSP00000386911	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409202	Transcript	.	.	ENSG00000163219	28951	.	.	MODIFIER	6/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHG25_HUMAN	ARHGAP25	HGNC	C9JB56_HUMAN	.	UPI0000251EDD	SNV	ARHGAP25,missense_variant,p.Asn247Lys,ENST00000544262,;ARHGAP25,intron_variant,,ENST00000409030,;ARHGAP25,intron_variant,,ENST00000409202,;ARHGAP25,intron_variant,,ENST00000467265,;ARHGAP25,intron_variant,,ENST00000497079,;ARHGAP25,intron_variant,,ENST00000295381,;ARHGAP25,intron_variant,,ENST00000497259,;ARHGAP25,intron_variant,,ENST00000409220,;ARHGAP25,upstream_gene_variant,,ENST00000479844,;ARHGAP25,downstream_gene_variant,,ENST00000456116,;ARHGAP25,missense_variant,p.Asn247Lys,ENST00000463483,;ARHGAP25,intron_variant,,ENST00000488795,;ARHGAP25,intron_variant,,ENST00000473986,;	.	11	18	SUCCESS
ANTXR1	84168	.	GRCh37	2	69304560	69304560	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	72	0	ENST00000303714.4:c.582T>C	p.Ser194=	p.S194=	ENST00000303714	NM_032208.2	194	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS1892.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGTAAGGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR16059:SF11,hmmpanther:PTHR16059,Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF038023,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000301945	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000303714	Transcript	.	.	ENSG00000169604	21014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANTR1_HUMAN	ANTXR1	HGNC	.	.	UPI0000049806	SNV	ANTXR1,synonymous_variant,p.%3D,ENST00000409829,;ANTXR1,synonymous_variant,p.%3D,ENST00000409349,;ANTXR1,synonymous_variant,p.%3D,ENST00000303714,;ANTXR1,synonymous_variant,p.%3D,ENST00000482235,;ANTXR1,non_coding_transcript_exon_variant,,ENST00000463335,;ANTXR1,non_coding_transcript_exon_variant,,ENST00000481119,;	904	72	57	SUCCESS
ADD2	119	.	GRCh37	2	70903769	70903769	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	102	0	ENST00000264436.4:c.1593+159A>C		p.*531*	ENST00000264436	NM_001617.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1906.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTGTGAG	NONE	.	.	.	.	.	ENSP00000264436	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264436	Transcript	.	.	ENSG00000075340	244	.	.	MODIFIER	13/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADDB_HUMAN	ADD2	HGNC	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN	.	UPI0000125503	SNV	ADD2,3_prime_UTR_variant,,ENST00000413157,;ADD2,3_prime_UTR_variant,,ENST00000430656,;ADD2,intron_variant,,ENST00000264436,;ADD2,intron_variant,,ENST00000456320,;ADD2,intron_variant,,ENST00000522886,;ADD2,intron_variant,,ENST00000407644,;ADD2,intron_variant,,ENST00000355733,;ADD2,intron_variant,,ENST00000403045,;ADD2,upstream_gene_variant,,ENST00000481675,;	.	102	86	SUCCESS
DYSF	8291	.	GRCh37	2	71780941	71780941	+	synonymous_variant	Silent	SNP	C	C	T	rs775843091	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	45	0	ENST00000258104.3:c.1935C>T	p.Cys645=	p.C645=	ENST00000258104	NM_003494.3	645	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS46328.1	1989	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGCCACTA	NONE	.	.	hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF35	.	.	ENSP00000386881	.	21/56	.	.	.	.	.	.	.	.	rs775843091	21/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,synonymous_variant,p.%3D,ENST00000409582,;DYSF,synonymous_variant,p.%3D,ENST00000410020,;DYSF,synonymous_variant,p.%3D,ENST00000409744,;DYSF,synonymous_variant,p.%3D,ENST00000429174,;DYSF,synonymous_variant,p.%3D,ENST00000409762,;DYSF,synonymous_variant,p.%3D,ENST00000410041,;DYSF,synonymous_variant,p.%3D,ENST00000409651,;DYSF,synonymous_variant,p.%3D,ENST00000394120,;DYSF,synonymous_variant,p.%3D,ENST00000409366,;DYSF,synonymous_variant,p.%3D,ENST00000413539,;DYSF,synonymous_variant,p.%3D,ENST00000258104,;	2130	45	47	SUCCESS
EXOC6B	23233	.	GRCh37	2	72692181	72692181	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	64	0	ENST00000272427.6:c.1980+108G>T		p.*660*	ENST00000272427	NM_015189.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46333.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATACTGAAA	NONE	.	.	.	.	.	ENSP00000272427	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000272427	Transcript	.	.	ENSG00000144036	17085	.	.	MODIFIER	18/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXC6B_HUMAN	EXOC6B	HGNC	Q9H8D6_HUMAN	.	UPI000046995C	SNV	EXOC6B,3_prime_UTR_variant,,ENST00000410104,;EXOC6B,intron_variant,,ENST00000272427,;EXOC6B,intron_variant,,ENST00000464347,;	.	64	49	SUCCESS
SEMA4F	10505	.	GRCh37	2	74907007	74907007	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	66	0	ENST00000357877.2:c.1984G>T	p.Gly662Ter	p.G662*	ENST00000357877	NM_004263.4	662	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS1955.1	1984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGGGACTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72	.	.	ENSP00000350547	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000357877	Transcript	.	.	ENSG00000135622	10734	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM4F_HUMAN	SEMA4F	HGNC	.	.	UPI0000001BF5	SNV	SEMA4F,stop_gained,p.Gly662Ter,ENST00000357877,;SEMA4F,stop_gained,p.Gly507Ter,ENST00000339773,;SEMA4F,non_coding_transcript_exon_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;	2133	66	53	SUCCESS
HK2	3099	.	GRCh37	2	75061680	75061680	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	33	82	1	ENST00000290573.2:c.-28C>T		p.*10*	ENST00000290573	NM_000189.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1956.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCAACTC	NONE	.	.	.	.	.	ENSP00000290573	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000290573	Transcript	.	.	ENSG00000159399	4923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HXK2_HUMAN	HK2	HGNC	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN	.	UPI00000706E4	SNV	HK2,5_prime_UTR_variant,,ENST00000290573,;HK2,upstream_gene_variant,,ENST00000409174,;RP11-259N19.1,upstream_gene_variant,,ENST00000610008,;	573	83	79	SUCCESS
LRRTM1	347730	.	GRCh37	2	80529619	80529619	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	35	0	ENST00000295057.3:c.1326G>T	p.Val442=	p.V442=	ENST00000295057	NM_178839.4	442	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1966.1	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCACGAT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	COSM81400	2/2	PASS	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,synonymous_variant,p.%3D,ENST00000295057,;LRRTM1,synonymous_variant,p.%3D,ENST00000409148,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;LRRTM1,downstream_gene_variant,,ENST00000415098,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000416268,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.%3D,ENST00000417012,;LRRTM1,synonymous_variant,p.%3D,ENST00000433224,;	1983	35	28	SUCCESS
LRRTM1	347730	.	GRCh37	2	80530967	80530967	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	64	165	0	ENST00000295057.3:c.-23T>A		p.*8*	ENST00000295057	NM_178839.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1966.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGACTGGA	NONE	.	.	.	.	.	ENSP00000295057	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295057	Transcript	.	.	ENSG00000162951	19408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRT1_HUMAN	LRRTM1	HGNC	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN	.	UPI000013E1FE	SNV	LRRTM1,5_prime_UTR_variant,,ENST00000415098,;LRRTM1,5_prime_UTR_variant,,ENST00000452811,;LRRTM1,5_prime_UTR_variant,,ENST00000295057,;LRRTM1,5_prime_UTR_variant,,ENST00000409148,;LRRTM1,5_prime_UTR_variant,,ENST00000416268,;CTNNA2,intron_variant,,ENST00000496558,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000540488,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000402739,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,5_prime_UTR_variant,,ENST00000417012,;LRRTM1,5_prime_UTR_variant,,ENST00000433224,;	635	165	162	SUCCESS
DNAH6	1768	.	GRCh37	2	84954900	84954900	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	34	76	0	ENST00000237449.6:c.10080A>G	p.Arg3360=	p.R3360=	ENST00000237449		3360	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS46348.1	10080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGAGGACT	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676	.	.	ENSP00000374045	.	61/77	.	.	.	.	.	.	.	.	.	61/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,synonymous_variant,p.%3D,ENST00000237449,;DNAH6,synonymous_variant,p.%3D,ENST00000389394,;	10217	76	74	SUCCESS
DNAH6	1768	.	GRCh37	2	85024758	85024758	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	30	60	0	ENST00000237449.6:c.11457T>A	p.His3819Gln	p.H3819Q	ENST00000237449		3819	caT/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS46348.1	11457	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCATGAAAA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374045	.	70/77	.	.	.	.	.	.	.	.	.	70/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.His3819Gln,ENST00000237449,;DNAH6,missense_variant,p.His3819Gln,ENST00000389394,;	11594	60	52	SUCCESS
IGKV2-24	28923	.	GRCh37	2	89475868	89475868	+	synonymous_variant	Silent	SNP	T	T	G	rs576793295	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	95	294	0	ENST00000484817.1:c.304A>C	p.Arg102=	p.R102=	ENST00000484817		102	Agg/Cgg	0	.	C:0	.	C:0.0014	.	G	R	IG_V_gene	YES	.	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCTGCTGA	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	C:0	.	ENSP00000419300	C:0	2/2	.	.	.	.	.	.	.	.	rs576793295	2/2	PASS	ENST00000484817	Transcript	.	C:0.0002	ENSG00000241294	5781	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	IGKV2-24	HGNC	.	.	UPI0000115DCF	SNV	IGKV2-24,synonymous_variant,p.%3D,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,;	334	294	236	SUCCESS
TRIM43	129868	.	GRCh37	2	96260836	96260836	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs754788542	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	165	105	273	1	ENST00000272395.2:c.450G>T	p.Lys150Asn	p.K150N	ENST00000272395	NM_138800.1	150	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS2015.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGATTCA	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276	.	.	ENSP00000272395	.	3/7	.	.	.	.	.	.	.	.	rs754788542	3/7	PASS	ENST00000272395	Transcript	.	.	ENSG00000144015	19015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	tolerated(0.08)	.	TRI43_HUMAN	TRIM43	HGNC	.	.	UPI000006E7BB	SNV	TRIM43,missense_variant,p.Lys150Asn,ENST00000272395,;AC009237.13,upstream_gene_variant,,ENST00000441078,;	586	275	271	SUCCESS
ADAM17	6868	.	GRCh37	2	9668050	9668050	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs34431503	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	38	80	0	ENST00000310823.3:c.484A>C	p.Lys162Gln	p.K162Q	ENST00000310823	NM_003183.4	162	Aaa/Caa	0	C:0.0086	C:0.0182	.	C:0.0014	.	G	K/Q	protein_coding	YES	CCDS1665.1	484	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTGTCTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121,Pfam_domain:PF01562	C:0	C:0	ENSP00000309968	C:0	5/19	.	.	.	.	.	.	.	.	rs34431503	5/19	PASS	ENST00000310823	Transcript	.	C:0.0050	ENSG00000151694	195	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.216)	C:0	tolerated(0.51)	.	ADA17_HUMAN	ADAM17	HGNC	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN	.	UPI00001254D4	SNV	ADAM17,missense_variant,p.Lys162Gln,ENST00000497134,;ADAM17,missense_variant,p.Lys162Gln,ENST00000310823,;snoU13,downstream_gene_variant,,ENST00000459017,;ADAM17,non_coding_transcript_exon_variant,,ENST00000478059,;	667	80	70	SUCCESS
ASTL	431705	.	GRCh37	2	96795631	96795631	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	49	122	0	ENST00000342380.2:c.806C>T	p.Ala269Val	p.A269V	ENST00000342380	NM_001002036.3	269	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS33249.1	806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGCACTC	NONE	.	.	Prints_domain:PR00480,Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01400,hmmpanther:PTHR10127	.	.	ENSP00000343674	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000342380	Transcript	.	.	ENSG00000188886	31704	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.507)	.	tolerated(0.26)	.	ASTL_HUMAN	ASTL	HGNC	.	.	UPI0000161978	SNV	ASTL,missense_variant,p.Ala269Val,ENST00000342380,;ASTL,downstream_gene_variant,,ENST00000470582,;	806	122	108	SUCCESS
SNRNP200	23020	.	GRCh37	2	96966755	96966755	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1333121691	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	111	0	ENST00000323853.5:c.611A>G	p.Gln204Arg	p.Q204R	ENST00000323853	NM_014014.4	204	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS2020.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGCACA	NONE	.	.	hmmpanther:PTHR11752:SF55,hmmpanther:PTHR11752	.	.	ENSP00000317123	.	5/45	.	.	.	.	.	.	.	.	.	5/45	PASS	ENST00000323853	Transcript	.	.	ENSG00000144028	30859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.59)	.	U520_HUMAN	SNRNP200	HGNC	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN	.	UPI0000207C53	SNV	SNRNP200,missense_variant,p.Gln204Arg,ENST00000323853,;SNRNP200,missense_variant,p.Gln204Arg,ENST00000349783,;	689	111	122	SUCCESS
FAHD2B	151313	.	GRCh37	2	97757306	97757306	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	63	194	1	ENST00000272610.3:c.138A>T	p.Thr46=	p.T46=	ENST00000272610	NM_199336.1	46	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS2030.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCTGTCTC	NONE	.	.	hmmpanther:PTHR11820:SF77,hmmpanther:PTHR11820	.	.	ENSP00000410470	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000414820	Transcript	.	.	ENSG00000144199	25318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAH2B_HUMAN	FAHD2B	HGNC	.	.	UPI000004D29E	SNV	FAHD2B,synonymous_variant,p.%3D,ENST00000272610,;FAHD2B,synonymous_variant,p.%3D,ENST00000440566,;FAHD2B,synonymous_variant,p.%3D,ENST00000414820,;FAHD2B,intron_variant,,ENST00000468548,;FAHD2B,non_coding_transcript_exon_variant,,ENST00000483657,;FAHD2B,intron_variant,,ENST00000463096,;FAHD2B,intron_variant,,ENST00000474849,;	409	196	145	SUCCESS
ANKRD36	375248	.	GRCh37	2	97884914	97884914	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	64	0	ENST00000420699.2:c.3886A>T	p.Thr1296Ser	p.T1296S	ENST00000420699	NM_001164315.1	1296	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS54379.1	3886	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTACAATT	NONE	.	.	hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1	.	.	ENSP00000391950	.	66/76	.	.	.	.	.	.	.	.	.	66/76	PASS	ENST00000420699	Transcript	.	.	ENSG00000135976	24079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	AN36A_HUMAN	ANKRD36	HGNC	.	.	UPI0001B23BB4	SNV	ANKRD36,missense_variant,p.Thr1296Ser,ENST00000461153,;ANKRD36,missense_variant,p.Thr1296Ser,ENST00000420699,;ANKRD36,non_coding_transcript_exon_variant,,ENST00000421946,;	4130	64	57	SUCCESS
VWA3B	200403	.	GRCh37	2	98866838	98866838	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	118	0	ENST00000477737.1:c.2731C>G	p.Gln911Glu	p.Q911E	ENST00000477737	NM_144992.4	911	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS42718.1	2731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCAAGGA	NONE	.	.	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104	.	.	ENSP00000417955	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	deleterious(0.01)	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,missense_variant,p.Gln911Glu,ENST00000477737,;VWA3B,missense_variant,p.Gln67Glu,ENST00000465555,;VWA3B,missense_variant,p.Gln322Glu,ENST00000473149,;VWA3B,non_coding_transcript_exon_variant,,ENST00000490947,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	2935	118	75	SUCCESS
CNGA3	1261	.	GRCh37	2	98994248	98994248	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	73	0	ENST00000272602.2:c.200G>T	p.Gly67Val	p.G67V	ENST00000272602		67	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2034.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCGGCCAGG	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	.	ENSP00000377140	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.063)	.	deleterious_low_confidence(0.01)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Gly16Val,ENST00000409937,;CNGA3,missense_variant,p.Gly67Val,ENST00000436404,;CNGA3,missense_variant,p.Gly67Val,ENST00000393504,;CNGA3,missense_variant,p.Gly67Val,ENST00000272602,;CNGA3,upstream_gene_variant,,ENST00000393503,;	617	73	64	SUCCESS
INPP4A	3631	.	GRCh37	2	99182502	99182502	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	68	0	ENST00000074304.5:c.2305A>G	p.Asn769Asp	p.N769D	ENST00000074304	NM_001134224.1	769	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS46369.1	2305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTAACGTG	NONE	.	.	hmmpanther:PTHR12187:SF4,hmmpanther:PTHR12187	.	.	ENSP00000074304	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000074304	Transcript	.	.	ENSG00000040933	6074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.02)	.	INP4A_HUMAN	INPP4A	HGNC	.	.	UPI000006CD60	SNV	INPP4A,missense_variant,p.Asn769Asp,ENST00000074304,;INPP4A,missense_variant,p.Asn98Asp,ENST00000409463,;INPP4A,missense_variant,p.Asn730Asp,ENST00000409016,;INPP4A,missense_variant,p.Asn730Asp,ENST00000409540,;INPP4A,missense_variant,p.Asn769Asp,ENST00000523221,;INPP4A,missense_variant,p.Asn730Asp,ENST00000545415,;INPP4A,missense_variant,p.Asn764Asp,ENST00000409851,;INPP4A,non_coding_transcript_exon_variant,,ENST00000467042,;	2698	68	59	SUCCESS
MRPL30	51263	.	GRCh37	2	99812077	99812077	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	53	134	0	ENST00000338148.3:c.395A>G	p.Glu132Gly	p.E132G	ENST00000338148	NM_145212.3	132	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS2041.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGAGAACA	BUFFER|p.A130T|c.388G>A|3	.	.	hmmpanther:PTHR15892:SF2,hmmpanther:PTHR15892	.	.	ENSP00000338057	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000338148	Transcript	.	.	ENSG00000185414	14036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.05)	.	RM30_HUMAN	MRPL30	HGNC	.	.	UPI000007110A	SNV	MRPL30,missense_variant,p.Glu132Gly,ENST00000338148,;C2orf15,missense_variant,p.Glu132Gly,ENST00000512183,;MRPL30,downstream_gene_variant,,ENST00000409145,;MRPL30,downstream_gene_variant,,ENST00000410042,;MRPL30,non_coding_transcript_exon_variant,,ENST00000465432,;MRPL30,downstream_gene_variant,,ENST00000473743,;MRPL30,missense_variant,p.Glu132Gly,ENST00000409841,;C2orf15,missense_variant,p.Glu162Gly,ENST00000424491,;	593	134	114	SUCCESS
IMPG2	50939	.	GRCh37	3	100964730	100964730	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	55	108	0	ENST00000193391.7:c.1459C>T	p.His487Tyr	p.H487Y	ENST00000193391	NM_016247.3	487	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS2940.1	1459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATGAAGAG	NONE	.	.	hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199	.	.	ENSP00000193391	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000193391	Transcript	.	.	ENSG00000081148	18362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.1)	.	IMPG2_HUMAN	IMPG2	HGNC	F1T0J3_HUMAN	.	UPI000013C605	SNV	IMPG2,missense_variant,p.His487Tyr,ENST00000193391,;	1647	108	119	SUCCESS
ATP2B2	491	.	GRCh37	3	10370618	10370618	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	129	0	ENST00000352432.4:c.3612A>T	p.Ser1204=	p.S1204=	ENST00000352432		1204	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS33701.1	3612	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGATGACGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000353414	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,synonymous_variant,p.%3D,ENST00000343816,;ATP2B2,synonymous_variant,p.%3D,ENST00000383800,;ATP2B2,synonymous_variant,p.%3D,ENST00000397077,;ATP2B2,synonymous_variant,p.%3D,ENST00000352432,;ATP2B2,synonymous_variant,p.%3D,ENST00000360273,;ATP2B2,synonymous_variant,p.%3D,ENST00000452124,;MIR378B,upstream_gene_variant,,ENST00000578876,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000467702,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000468426,;ATP2B2,3_prime_UTR_variant,,ENST00000460129,;	4051	129	91	SUCCESS
MYH15	22989	.	GRCh37	3	108147647	108147647	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	130	0	ENST00000273353.3:c.3454A>C	p.Thr1152Pro	p.T1152P	ENST00000273353	NM_014981.1	1152	Acc/Ccc	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS43127.1	3454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGTGAGGT	NONE	.	.	Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	28/42	.	.	.	.	.	.	.	.	COSM3584968	28/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.832)	.	deleterious(0)	1	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Thr1152Pro,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	3511	131	96	SUCCESS
MYH15	22989	.	GRCh37	3	108149731	108149731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	14	48	0	ENST00000273353.3:c.3320A>G	p.Glu1107Gly	p.E1107G	ENST00000273353	NM_014981.1	1107	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS43127.1	3320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTCCACT	NONE	.	.	Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	27/42	.	.	.	.	.	.	.	.	.	27/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Glu1107Gly,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	3377	48	41	SUCCESS
DZIP3	9666	.	GRCh37	3	108396342	108396342	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	91	232	1	ENST00000361582.3:c.2782-2A>T		p.X928_splice	ENST00000361582	NM_014648.3	928		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2952.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCAGACAC	NONE	.	.	.	.	.	ENSP00000355028	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	HIGH	25/32	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,splice_acceptor_variant,,ENST00000463306,;DZIP3,splice_acceptor_variant,,ENST00000361582,;DZIP3,splice_acceptor_variant,,ENST00000495008,;	.	233	195	SUCCESS
DZIP3	9666	.	GRCh37	3	108396438	108396438	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	102	81	273	0	ENST00000361582.3:c.2876A>T	p.Glu959Val	p.E959V	ENST00000361582	NM_014648.3	959	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS2952.1	2876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGAGATAC	NONE	.	.	hmmpanther:PTHR12477:SF15,hmmpanther:PTHR12477	.	.	ENSP00000355028	.	26/33	.	.	.	.	.	.	.	.	.	26/33	PASS	ENST00000361582	Transcript	.	.	ENSG00000198919	30938	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.39)	.	tolerated(0.05)	.	DZIP3_HUMAN	DZIP3	HGNC	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN	.	UPI000006E7D4	SNV	DZIP3,missense_variant,p.Glu959Val,ENST00000463306,;DZIP3,missense_variant,p.Glu959Val,ENST00000361582,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	3106	273	183	SUCCESS
TRAT1	50852	.	GRCh37	3	108572586	108572586	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	157	361	0	ENST00000295756.6:c.423T>G	p.His141Gln	p.H141Q	ENST00000295756	NM_016388.2	141	caT/caG	0	.	.	.	.	.	G	H/Q	protein_coding	YES	CCDS33813.1	423	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACATGCAAT	NONE	.	.	hmmpanther:PTHR15951	.	.	ENSP00000295756	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295756	Transcript	.	.	ENSG00000163519	30698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.25)	.	TRAT1_HUMAN	TRAT1	HGNC	.	.	UPI00001147D3	SNV	TRAT1,missense_variant,p.His141Gln,ENST00000295756,;TRAT1,missense_variant,p.His104Gln,ENST00000426646,;	653	361	310	SUCCESS
SLC9C1	285335	.	GRCh37	3	111888053	111888053	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	67	0	ENST00000305815.5:c.3042A>G	p.Leu1014=	p.L1014=	ENST00000305815	NM_183061.1	1014	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS33817.1	3042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGATAAGTG	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87	.	.	ENSP00000306627	.	24/29	.	.	.	.	.	.	.	.	.	24/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,synonymous_variant,p.%3D,ENST00000487372,;SLC9C1,synonymous_variant,p.%3D,ENST00000305815,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;	3295	67	71	SUCCESS
CCDC80	151887	.	GRCh37	3	112357721	112357721	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	37	0	ENST00000206423.3:c.1032T>A	p.Pro344=	p.P344=	ENST00000206423	NM_199512.1	344	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2968.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGAGGTTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,synonymous_variant,p.%3D,ENST00000206423,;CCDC80,synonymous_variant,p.%3D,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	1986	37	25	SUCCESS
WDR52	0	.	GRCh37	3	113092276	113092276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	37	73	0	ENST00000295868.2:c.2426T>C	p.Ile809Thr	p.I809T	ENST00000295868	NM_018338.3	809	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS54624.1	2426	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGATGGGA	NONE	.	.	hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000377428	.	18/35	.	.	.	.	.	.	.	.	.	18/35	PASS	ENST00000393845	Transcript	.	.	ENSG00000206530	25631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	deleterious(0)	.	WDR52_HUMAN	WDR52	HGNC	C9K0A4_HUMAN	.	UPI0000367198	SNV	WDR52,missense_variant,p.Ile809Thr,ENST00000393845,;WDR52,missense_variant,p.Ile809Thr,ENST00000295868,;WDR52,intron_variant,,ENST00000488854,;	2493	73	86	SUCCESS
ATP6V1A	523	.	GRCh37	3	113524316	113524316	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1159395947	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	66	168	0	ENST00000273398.3:c.1705A>G	p.Ile569Val	p.I569V	ENST00000273398	NM_001690.3	569	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS2976.1	1705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCATTATT	NONE	.	.	HAMAP:MF_00309,hmmpanther:PTHR15184:SF7,hmmpanther:PTHR15184,TIGRFAM_domain:TIGR01042,Pfam_domain:PF00306,Superfamily_domains:SSF47917	.	.	ENSP00000273398	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000273398	Transcript	.	.	ENSG00000114573	851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	VATA_HUMAN	ATP6V1A	HGNC	C9JVW8_HUMAN,C9JA17_HUMAN,B7Z2V6_HUMAN,B7Z1R5_HUMAN	.	UPI000013809A	SNV	ATP6V1A,missense_variant,p.Ile569Val,ENST00000273398,;ATP6V1A,missense_variant,p.Ile536Val,ENST00000538620,;ATP6V1A,non_coding_transcript_exon_variant,,ENST00000461496,;ATP6V1A,3_prime_UTR_variant,,ENST00000470455,;	1813	168	158	SUCCESS
LSAMP	4045	.	GRCh37	3	116164004	116164004	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000490035.2:c.-126C>A		p.*42*	ENST00000490035	NM_002338.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2982.1	.	RADIA|MUTECT|MUSE	.	TTTATGGTCCT	NONE	.	.	.	.	.	ENSP00000419000	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000490035	Transcript	.	.	ENSG00000185565	6705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LSAMP_HUMAN	LSAMP	HGNC	.	.	UPI00000746A0	SNV	LSAMP,5_prime_UTR_variant,,ENST00000490035,;LSAMP,intron_variant,,ENST00000539563,;LSAMP,intron_variant,,ENST00000474851,;LSAMP,upstream_gene_variant,,ENST00000333617,;	375	14	11	SUCCESS
ARHGAP31	57514	.	GRCh37	3	119133814	119133814	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	61	0	ENST00000264245.4:c.3038T>A	p.Leu1013Gln	p.L1013Q	ENST00000264245	NM_020754.2	1013	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS43135.1	3038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCTGAAAG	NONE	.	.	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729	.	.	ENSP00000264245	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000264245	Transcript	.	.	ENSG00000031081	29216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.07)	.	RHG31_HUMAN	ARHGAP31	HGNC	.	.	UPI00001C1DFD	SNV	ARHGAP31,missense_variant,p.Leu1013Gln,ENST00000264245,;	3570	61	61	SUCCESS
GPR156	165829	.	GRCh37	3	119886437	119886437	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	23	49	0	ENST00000315843.3:c.1887T>A	p.Pro629=	p.P629=	ENST00000315843	NM_153002.2	629	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2997.1	1887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCAGGAAC	NONE	.	.	.	.	.	ENSP00000417261	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000464295	Transcript	.	.	ENSG00000175697	20844	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP156_HUMAN	GPR156	HGNC	.	.	UPI000004731C	SNV	GPR156,synonymous_variant,p.%3D,ENST00000315843,;GPR156,synonymous_variant,p.%3D,ENST00000461057,;GPR156,synonymous_variant,p.%3D,ENST00000464295,;GPR156,3_prime_UTR_variant,,ENST00000495912,;	2333	49	40	SUCCESS
STXBP5L	9515	.	GRCh37	3	120871322	120871322	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	68	0	ENST00000273666.6:c.670-2A>G		p.X224_splice	ENST00000273666	NM_014980.2	224		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43137.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAGCTGC	NONE	.	.	.	.	.	ENSP00000273666	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000273666	Transcript	.	.	ENSG00000145087	30757	.	.	HIGH	7/27	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STB5L_HUMAN	STXBP5L	HGNC	C9JUZ7_HUMAN	.	UPI00001C1DEA	SNV	STXBP5L,splice_acceptor_variant,,ENST00000471262,;STXBP5L,splice_acceptor_variant,,ENST00000472879,;STXBP5L,splice_acceptor_variant,,ENST00000273666,;STXBP5L,splice_acceptor_variant,,ENST00000471454,;STXBP5L,splice_acceptor_variant,,ENST00000492541,;STXBP5L,splice_acceptor_variant,,ENST00000497029,;STXBP5L,splice_acceptor_variant,,ENST00000461772,;	.	68	44	SUCCESS
POLQ	10721	.	GRCh37	3	121263593	121263593	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	64	159	0	ENST00000264233.5:c.324A>C	p.Gly108=	p.G108=	ENST00000264233	NM_199420.3	108	ggA/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS33833.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTCCTTC	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000264233	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,synonymous_variant,p.%3D,ENST00000264233,;	453	159	151	SUCCESS
CD86	942	.	GRCh37	3	121828150	121828150	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	95	0	ENST00000330540.2:c.742T>C	p.Trp248Arg	p.W248R	ENST00000330540	NM_175862.4	248	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS3009.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTGGATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF203	.	.	ENSP00000332049	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000330540	Transcript	.	.	ENSG00000114013	1705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	CD86_HUMAN	CD86	HGNC	C9JXS1_HUMAN	.	UPI00001AFC7C	SNV	CD86,missense_variant,p.Trp248Arg,ENST00000330540,;CD86,missense_variant,p.Trp242Arg,ENST00000393627,;CD86,missense_variant,p.Trp166Arg,ENST00000469710,;CD86,missense_variant,p.Trp35Arg,ENST00000264468,;CD86,missense_variant,p.Trp136Arg,ENST00000493101,;CD86,intron_variant,,ENST00000478741,;CD86,downstream_gene_variant,,ENST00000482356,;	858	95	83	SUCCESS
SYN2	6854	.	GRCh37	3	12209886	12209886	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	87	0	ENST00000432424.2:n.1238T>C		p.*413*	ENST00000432424				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTGTGGGTG	NONE	.	.	.	.	.	.	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000432424	Transcript	.	.	ENSG00000157152	11495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SYN2	HGNC	.	.	.	SNV	SYN2,non_coding_transcript_exon_variant,,ENST00000432424,;SYN2,non_coding_transcript_exon_variant,,ENST00000447752,;SYN2,non_coding_transcript_exon_variant,,ENST00000426379,;SYN2,non_coding_transcript_exon_variant,,ENST00000425297,;SYN2,non_coding_transcript_exon_variant,,ENST00000439861,;AC026166.2,upstream_gene_variant,,ENST00000433573,;	1238	87	65	SUCCESS
UROC1	131669	.	GRCh37	3	126219694	126219694	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	65	0	ENST00000290868.2:c.989A>G	p.Asp330Gly	p.D330G	ENST00000290868	NM_144639.2	330	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS54636.1	1169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGTCCAAT	NONE	.	.	HAMAP:MF_00577,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Pfam_domain:PF01175,Gene3D:1x87B01,Superfamily_domains:SSF111326	.	.	ENSP00000373073	.	12/21	.	.	.	.	.	.	.	.	.	12/21	PASS	ENST00000383579	Transcript	.	.	ENSG00000159650	26444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0.02)	.	HUTU_HUMAN	UROC1	HGNC	.	.	UPI0000480109	SNV	UROC1,missense_variant,p.Asp390Gly,ENST00000383579,;UROC1,missense_variant,p.Asp330Gly,ENST00000290868,;	1203	65	53	SUCCESS
PODXL2	50512	.	GRCh37	3	127379659	127379659	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	55	114	0	ENST00000342480.6:c.788A>C	p.Gln263Pro	p.Q263P	ENST00000342480	NM_015720.3	263	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS3044.1	788	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAAGAGG	NONE	.	.	hmmpanther:PTHR15594	.	.	ENSP00000345359	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342480	Transcript	.	.	ENSG00000114631	17936	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.19)	.	PDXL2_HUMAN	PODXL2	HGNC	.	.	UPI000006FC4B	SNV	PODXL2,missense_variant,p.Gln263Pro,ENST00000342480,;AC023593.1,upstream_gene_variant,,ENST00000408486,;	827	114	128	SUCCESS
CAND2	23066	.	GRCh37	3	12848860	12848860	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	60	144	0	ENST00000456430.2:c.268A>C	p.Thr90Pro	p.T90P	ENST00000456430	NM_001162499.1	90	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS54554.1	268	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACACCCTG	NONE	.	.	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000387641	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000456430	Transcript	.	.	ENSG00000144712	30689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	deleterious(0.02)	.	CAND2_HUMAN	CAND2	HGNC	.	.	UPI00005795FA	SNV	CAND2,missense_variant,p.Thr90Pro,ENST00000456430,;CAND2,intron_variant,,ENST00000295989,;CAND2,non_coding_transcript_exon_variant,,ENST00000466558,;CAND2,intron_variant,,ENST00000446928,;	309	145	129	SUCCESS
CNBP	7555	.	GRCh37	3	128890513	128890513	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	126	338	1	ENST00000422453.2:c.88A>T	p.Arg30Ter	p.R30*	ENST00000422453	NM_003418.4	30	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46906.1	88	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTCATTC	NONE	.	.	Gene3D:4.10.60.10,hmmpanther:PTHR23002:SF53,hmmpanther:PTHR23002,Low_complexity_(Seg):seg	.	.	ENSP00000410769	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000441626	Transcript	.	.	ENSG00000169714	13164	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNBP_HUMAN	CNBP	HGNC	Q6T598_HUMAN	.	UPI0000496743	SNV	CNBP,stop_gained,p.Arg30Ter,ENST00000502976,;CNBP,stop_gained,p.Arg30Ter,ENST00000512338,;CNBP,stop_gained,p.Arg30Ter,ENST00000441626,;CNBP,stop_gained,p.Arg30Ter,ENST00000451728,;CNBP,stop_gained,p.Arg30Ter,ENST00000446936,;CNBP,stop_gained,p.Arg30Ter,ENST00000500450,;CNBP,stop_gained,p.Arg30Ter,ENST00000422453,;CNBP,stop_gained,p.Arg30Ter,ENST00000504813,;CNBP,non_coding_transcript_exon_variant,,ENST00000507573,;CNBP,non_coding_transcript_exon_variant,,ENST00000502372,;	237	339	274	SUCCESS
COL6A5	256076	.	GRCh37	3	130092493	130092493	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	220	141	426	0	ENST00000312481.7:c.12G>A	p.Leu4=	p.L4=	ENST00000312481		4	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	.	12	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTGCTAAT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22992:SF93,hmmpanther:PTHR22992	.	.	ENSP00000265379	.	2/42	.	.	.	.	.	.	.	.	.	2/42	PASS	ENST00000265379	Transcript	.	.	ENSG00000172752	26674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	COL6A5	HGNC	E9PAL5_HUMAN	.	UPI0002064ECE	SNV	COL6A5,synonymous_variant,p.%3D,ENST00000432398,;COL6A5,synonymous_variant,p.%3D,ENST00000265379,;AC093004.1,upstream_gene_variant,,ENST00000410751,;COL6A5,synonymous_variant,p.%3D,ENST00000312481,;	506	427	362	SUCCESS
COL6A6	131873	.	GRCh37	3	130281939	130281939	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	44	96	0	ENST00000358511.6:c.92T>C	p.Leu31Ser	p.L31S	ENST00000358511	NM_001102608.1	31	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS46911.1	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTGGTGG	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	2/36	.	.	.	.	.	.	.	.	.	2/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Leu31Ser,ENST00000453409,;COL6A6,missense_variant,p.Leu31Ser,ENST00000358511,;	123	96	83	SUCCESS
COL6A6	131873	.	GRCh37	3	130284329	130284329	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	43	109	0	ENST00000358511.6:c.1153C>A	p.Gln385Lys	p.Q385K	ENST00000358511	NM_001102608.1	385	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS46911.1	1153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGCAGTAT	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000351310	.	3/36	.	.	.	.	.	.	.	.	.	3/36	PASS	ENST00000358511	Transcript	.	.	ENSG00000206384	27023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.21)	.	CO6A6_HUMAN	COL6A6	HGNC	.	.	UPI00015B6548	SNV	COL6A6,missense_variant,p.Gln385Lys,ENST00000453409,;COL6A6,missense_variant,p.Gln385Lys,ENST00000358511,;	1184	109	95	SUCCESS
ATP2C1	27032	.	GRCh37	3	130714897	130714897	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	28	0	ENST00000428331.2:c.2068G>T	p.Glu690Ter	p.E690*	ENST00000428331	NM_014382.3	690	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS56278.1	2170	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCGAAGAG	BUFFER|p.E690K|c.2068G>A|6	.	.	Prints_domain:PR00120,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01522,Gene3D:1.20.1110.10,hmmpanther:PTHR24093:SF214,hmmpanther:PTHR24093	.	.	ENSP00000376914	.	22/28	.	.	.	.	.	.	.	.	COSM169226,COSM3846219	22/28	PASS	ENST00000393221	Transcript	.	.	ENSG00000017260	13211	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	AT2C1_HUMAN	ATP2C1	HGNC	D6RGE9_HUMAN,D6R9U9_HUMAN	.	UPI0000EE224C	SNV	ATP2C1,stop_gained,p.Glu690Ter,ENST00000328560,;ATP2C1,stop_gained,p.Glu690Ter,ENST00000508532,;ATP2C1,stop_gained,p.Glu690Ter,ENST00000359644,;ATP2C1,stop_gained,p.Glu674Ter,ENST00000504948,;ATP2C1,stop_gained,p.Glu208Ter,ENST00000508660,;ATP2C1,stop_gained,p.Glu674Ter,ENST00000507488,;ATP2C1,stop_gained,p.Glu685Ter,ENST00000533801,;ATP2C1,stop_gained,p.Glu674Ter,ENST00000505330,;ATP2C1,stop_gained,p.Glu644Ter,ENST00000504612,;ATP2C1,stop_gained,p.Glu724Ter,ENST00000393221,;ATP2C1,stop_gained,p.Glu690Ter,ENST00000422190,;ATP2C1,stop_gained,p.Glu674Ter,ENST00000513801,;ATP2C1,stop_gained,p.Glu690Ter,ENST00000428331,;ATP2C1,stop_gained,p.Glu635Ter,ENST00000504381,;ATP2C1,stop_gained,p.Glu690Ter,ENST00000510168,;ATP2C1,stop_gained,p.Glu14Ter,ENST00000507194,;ATP2C1,non_coding_transcript_exon_variant,,ENST00000510774,;ATP2C1,non_coding_transcript_exon_variant,,ENST00000514654,;ATP2C1,downstream_gene_variant,,ENST00000504571,;	2385	28	22	SUCCESS
DNAJC13	23317	.	GRCh37	3	132153447	132153447	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751869200	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	36	0	ENST00000260818.6:c.53A>G	p.His18Arg	p.H18R	ENST00000260818	NM_015268.3	18	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS33857.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACATTCAT	NONE	.	.	.	.	.	ENSP00000260818	.	2/56	.	.	.	.	.	.	.	.	rs751869200	2/56	PASS	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0.01)	.	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,missense_variant,p.His18Arg,ENST00000260818,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;	301	36	24	SUCCESS
TMEM108	66000	.	GRCh37	3	132948183	132948183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	55	0	ENST00000321871.6:c.28T>C	p.Cys10Arg	p.C10R	ENST00000321871	NM_001136469.1	10	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS33858.1	28	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATTGCCAA	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000324651	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000321871	Transcript	.	.	ENSG00000144868	28451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious_low_confidence(0.04)	.	TM108_HUMAN	TMEM108	HGNC	D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN	.	UPI000004EE8B	SNV	TMEM108,missense_variant,p.Cys10Arg,ENST00000511555,;TMEM108,missense_variant,p.Cys10Arg,ENST00000393130,;TMEM108,missense_variant,p.Cys10Arg,ENST00000510183,;TMEM108,missense_variant,p.Cys10Arg,ENST00000515826,;TMEM108,missense_variant,p.Cys10Arg,ENST00000508711,;TMEM108,missense_variant,p.Cys10Arg,ENST00000321871,;TMEM108,missense_variant,p.Cys10Arg,ENST00000512137,;TMEM108,5_prime_UTR_variant,,ENST00000514894,;TMEM108,5_prime_UTR_variant,,ENST00000512662,;	238	55	40	SUCCESS
TMEM108	66000	.	GRCh37	3	133099726	133099726	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	66	0	ENST00000321871.6:c.1171A>T	p.Arg391Trp	p.R391W	ENST00000321871	NM_001136469.1	391	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33858.1	1171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGGGTC	NONE	.	.	.	.	.	ENSP00000324651	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000321871	Transcript	.	.	ENSG00000144868	28451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.614)	.	tolerated_low_confidence(0.11)	.	TM108_HUMAN	TMEM108	HGNC	D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN	.	UPI000004EE8B	SNV	TMEM108,missense_variant,p.Arg391Trp,ENST00000393130,;TMEM108,missense_variant,p.Arg391Trp,ENST00000515826,;TMEM108,missense_variant,p.Arg391Trp,ENST00000321871,;TMEM108,intron_variant,,ENST00000508711,;TMEM108,downstream_gene_variant,,ENST00000511555,;TMEM108,downstream_gene_variant,,ENST00000510183,;TMEM108,downstream_gene_variant,,ENST00000514894,;TMEM108,downstream_gene_variant,,ENST00000512137,;TMEM108,downstream_gene_variant,,ENST00000512662,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,;	1381	66	62	SUCCESS
BFSP2	8419	.	GRCh37	3	133169265	133169265	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	53	0	ENST00000302334.2:c.848T>C	p.Val283Ala	p.V283A	ENST00000302334	NM_003571.2	283	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33859.1	848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGTTGAAA	NONE	.	.	hmmpanther:PTHR23239:SF32,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000304987	.	4/7	.	.	.	.	.	.	.	.	COSM1670582	4/7	PASS	ENST00000302334	Transcript	.	.	ENSG00000170819	1041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.013)	.	tolerated(0.33)	1	BFSP2_HUMAN	BFSP2	HGNC	.	.	UPI00001268CA	SNV	BFSP2,missense_variant,p.Val283Ala,ENST00000302334,;BFSP2-AS1,intron_variant,,ENST00000515542,;BFSP2,non_coding_transcript_exon_variant,,ENST00000511434,;BFSP2,upstream_gene_variant,,ENST00000510039,;	937	53	44	SUCCESS
TOPBP1	11073	.	GRCh37	3	133372268	133372268	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs572308153	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	73	0	ENST00000260810.5:c.843A>G	p.Ile281Met	p.I281M	ENST00000260810	NM_007027.3	281	atA/atG	0	.	C:0.0008	.	C:0	.	C	I/M	protein_coding	YES	CCDS46919.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTATATGGA	NONE	by1000G	.	PROSITE_profiles:PS50172,hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561,Gene3D:3.40.50.10190,Superfamily_domains:SSF52113	C:0	.	ENSP00000260810	C:0	7/28	.	.	.	.	.	.	.	.	rs572308153	7/28	PASS	ENST00000260810	Transcript	.	C:0.0002	ENSG00000163781	17008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	C:0	tolerated(0.71)	.	TOPB1_HUMAN	TOPBP1	HGNC	A0AV47_HUMAN	.	UPI000020A292	SNV	TOPBP1,missense_variant,p.Ile126Met,ENST00000508524,;TOPBP1,missense_variant,p.Ile281Met,ENST00000260810,;TOPBP1,non_coding_transcript_exon_variant,,ENST00000511439,;TOPBP1,missense_variant,p.Ile15Met,ENST00000572787,;TOPBP1,upstream_gene_variant,,ENST00000509162,;	975	73	63	SUCCESS
CEP63	80254	.	GRCh37	3	134265095	134265095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	190	380	0	ENST00000337090.3:c.894G>T	p.Lys298Asn	p.K298N	ENST00000337090		298	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS3086.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAAAGGCAAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF6	.	.	ENSP00000336524	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000337090	Transcript	.	.	ENSG00000182923	25815	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	tolerated(0.27)	.	CEP63_HUMAN	CEP63	HGNC	D6RAY6_HUMAN,D6R9Q4_HUMAN	.	UPI000006D2FD	SNV	CEP63,missense_variant,p.Lys33Asn,ENST00000504929,;CEP63,missense_variant,p.Lys298Asn,ENST00000383229,;CEP63,missense_variant,p.Lys298Asn,ENST00000337090,;CEP63,missense_variant,p.Lys298Asn,ENST00000354446,;CEP63,missense_variant,p.Lys298Asn,ENST00000513612,;CEP63,missense_variant,p.Lys298Asn,ENST00000332047,;CEP63,missense_variant,p.Lys298Asn,ENST00000606977,;CEP63,upstream_gene_variant,,ENST00000514678,;CEP63,downstream_gene_variant,,ENST00000508778,;CEP63,intron_variant,,ENST00000510625,;CEP63,upstream_gene_variant,,ENST00000513295,;	1067	380	393	SUCCESS
FBLN2	2199	.	GRCh37	3	13651079	13651079	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	55	134	1	ENST00000295760.7:c.1485A>G	p.Gly495=	p.G495=	ENST00000295760	NM_001998.2	495	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS46761.1	1485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGAGCCAA	NONE	.	.	PROSITE_profiles:PS01178,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72,PROSITE_patterns:PS01177,SMART_domains:SM00104,Superfamily_domains:SSF57184	.	.	ENSP00000384169	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000404922	Transcript	.	.	ENSG00000163520	3601	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN2_HUMAN	FBLN2	HGNC	Q9Y3V7_HUMAN,C9JQS6_HUMAN	.	UPI000042B0C1	SNV	FBLN2,synonymous_variant,p.%3D,ENST00000295760,;FBLN2,synonymous_variant,p.%3D,ENST00000492059,;FBLN2,synonymous_variant,p.%3D,ENST00000404922,;FBLN2,synonymous_variant,p.%3D,ENST00000535798,;FBLN2,upstream_gene_variant,,ENST00000477845,;	1604	135	127	SUCCESS
SPSB4	92369	.	GRCh37	3	140785585	140785585	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	39	76	0	ENST00000310546.2:c.639G>T	p.Val213=	p.V213=	ENST00000310546	NM_080862.1	213	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS3115.1	639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGAGTGC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000311609	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000310546	Transcript	.	.	ENSG00000175093	30630	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPSB4_HUMAN	SPSB4	HGNC	.	.	UPI00000734A4	SNV	SPSB4,synonymous_variant,p.%3D,ENST00000310546,;SPSB4,synonymous_variant,p.%3D,ENST00000508126,;	1383	76	68	SUCCESS
XRN1	54464	.	GRCh37	3	142122605	142122605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	116	296	0	ENST00000264951.4:c.2014A>G	p.Lys672Glu	p.K672E	ENST00000264951	NM_019001.3	672	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3123.1	2014	RADIA|SOMATICSNIPER|VARSCANS	.	TTTCTTCAAAA	NONE	.	.	hmmpanther:PTHR12341:SF9,hmmpanther:PTHR12341,PIRSF_domain:PIRSF006743	.	.	ENSP00000264951	.	18/42	.	.	.	.	.	.	.	.	.	18/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.27)	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	SNV	XRN1,missense_variant,p.Lys138Glu,ENST00000498077,;XRN1,missense_variant,p.Lys672Glu,ENST00000392981,;XRN1,missense_variant,p.Lys672Glu,ENST00000264951,;RNU6-1294P,downstream_gene_variant,,ENST00000515995,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;	2132	296	293	SUCCESS
ATR	545	.	GRCh37	3	142253962	142253962	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	92	0	ENST00000350721.4:c.3905A>T	p.His1302Leu	p.H1302L	ENST00000350721	NM_001184.3	1302	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS3124.1	3905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCATGAATA	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	21/47	.	.	.	.	.	.	.	.	.	21/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.05)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.His1238Leu,ENST00000383101,;ATR,missense_variant,p.His1302Leu,ENST00000350721,;	4027	93	100	SUCCESS
ATR	545	.	GRCh37	3	142281191	142281191	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	87	211	0	ENST00000350721.4:c.1053G>T	p.Gln351His	p.Q351H	ENST00000350721	NM_001184.3	351	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS3124.1	1053	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACTGCAG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371	.	.	ENSP00000343741	.	4/47	.	.	.	.	.	.	.	.	.	4/47	PASS	ENST00000350721	Transcript	.	.	ENSG00000175054	882	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.26)	.	ATR_HUMAN	ATR	HGNC	.	.	UPI0000031A31	SNV	ATR,missense_variant,p.Gln32His,ENST00000515149,;ATR,missense_variant,p.Gln351His,ENST00000383101,;ATR,missense_variant,p.Gln351His,ENST00000350721,;ATR,splice_acceptor_variant,,ENST00000507148,;ATR,upstream_gene_variant,,ENST00000515863,;	1175	211	175	SUCCESS
CNTN6	27255	.	GRCh37	3	1425084	1425084	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	23	49	0	ENST00000350110.2:c.2509G>T	p.Gly837Cys	p.G837C	ENST00000350110	NM_014461.2	837	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS2557.1	2509	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGGGCTAT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF52,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000407822	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,missense_variant,p.Gly765Cys,ENST00000539053,;CNTN6,missense_variant,p.Gly837Cys,ENST00000446702,;CNTN6,missense_variant,p.Gly837Cys,ENST00000350110,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	3136	49	40	SUCCESS
CCDC174	51244	.	GRCh37	3	14711539	14711539	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	117	261	1	ENST00000383794.3:c.1051A>T	p.Arg351Trp	p.R351W	ENST00000383794	NM_016474.4	351	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2620.2	1051	RADIA|SOMATICSNIPER|VARSCANS	.	AGGAGAGGAAG	NONE	.	.	hmmpanther:PTHR15885	.	.	ENSP00000373304	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000383794	Transcript	.	.	ENSG00000154781	28033	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.869)	.	deleterious(0)	.	CC174_HUMAN	CCDC174	HGNC	.	.	UPI00004120DD	SNV	CCDC174,missense_variant,p.Arg275Trp,ENST00000303688,;CCDC174,missense_variant,p.Arg351Trp,ENST00000383794,;CCDC174,non_coding_transcript_exon_variant,,ENST00000476763,;CCDC174,downstream_gene_variant,,ENST00000465759,;	1124	263	242	SUCCESS
C3orf20	84077	.	GRCh37	3	14813588	14813588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	58	0	ENST00000253697.3:c.2510T>C	p.Val837Ala	p.V837A	ENST00000253697	NM_032137.4	837	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS33706.1	2510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTCCTGA	NONE	.	.	hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	.	.	ENSP00000253697	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000253697	Transcript	.	.	ENSG00000131379	25320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.46)	.	CC020_HUMAN	C3orf20	HGNC	.	.	UPI000013CDE9	SNV	C3orf20,missense_variant,p.Val715Ala,ENST00000435614,;C3orf20,missense_variant,p.Val715Ala,ENST00000412910,;C3orf20,missense_variant,p.Val837Ala,ENST00000253697,;AC090957.2,upstream_gene_variant,,ENST00000422657,;	2962	58	57	SUCCESS
CPB1	1360	.	GRCh37	3	148558665	148558665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	38	75	0	ENST00000282957.4:c.377A>T	p.Glu126Val	p.E126V	ENST00000282957	NM_001871.2	126	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS33874.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATAGAGGCTT	NONE	.	.	hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187	.	.	ENSP00000417222	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000491148	Transcript	.	.	ENSG00000153002	2299	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.52)	.	CBPB1_HUMAN	CPB1	HGNC	Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN	.	UPI00001271CD	SNV	CPB1,missense_variant,p.Glu126Val,ENST00000282957,;CPB1,missense_variant,p.Glu126Val,ENST00000491148,;CPB1,intron_variant,,ENST00000468341,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	711	75	77	SUCCESS
ANKUB1	389161	.	GRCh37	3	149485426	149485426	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	44	0	ENST00000446160.1:c.1023A>G	p.Ala341=	p.A341=	ENST00000446160	NM_001144960.1	341	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	.	1023	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTTGCCCC	NONE	.	.	hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF111	.	.	ENSP00000387907	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000446160	Transcript	.	.	ENSG00000206199	29642	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKUB1	HGNC	E9PHT4_HUMAN	.	UPI0000DD7B6F	SNV	ANKUB1,synonymous_variant,p.%3D,ENST00000462519,;ANKUB1,synonymous_variant,p.%3D,ENST00000446160,;ANKUB1,synonymous_variant,p.%3D,ENST00000383050,;ANKUB1,3_prime_UTR_variant,,ENST00000484019,;	1480	44	41	SUCCESS
FAM194A	0	.	GRCh37	3	150396254	150396254	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	80	206	0	ENST00000295910.6:c.1199A>C	p.Gln400Pro	p.Q400P	ENST00000295910	NM_152394.3	400	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS3151.2	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTTGAAAA	NONE	.	.	hmmpanther:PTHR23093:SF11,hmmpanther:PTHR23093	.	.	ENSP00000295910	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000295910	Transcript	.	.	ENSG00000163645	28602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.648)	.	deleterious(0.03)	.	F194A_HUMAN	FAM194A	HGNC	.	.	UPI000023281A	SNV	FAM194A,missense_variant,p.Gln254Pro,ENST00000491361,;FAM194A,missense_variant,p.Gln400Pro,ENST00000295910,;FAM194A,non_coding_transcript_exon_variant,,ENST00000491716,;	1252	206	215	SUCCESS
P2RY1	5028	.	GRCh37	3	152554322	152554322	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	39	85	0	ENST00000305097.3:c.751A>T	p.Asn251Tyr	p.N251Y	ENST00000305097	NM_002563.3	251	Aac/Tac	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS3169.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACAACTCT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	deleterious(0.04)	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,missense_variant,p.Asn251Tyr,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	1587	85	74	SUCCESS
GPR149	344758	.	GRCh37	3	154145340	154145340	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	47	0	ENST00000389740.2:c.1139A>G	p.Gln380Arg	p.Q380R	ENST00000389740	NM_001038705.1	380	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS43162.1	1139	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCTGCCTG	NONE	.	.	hmmpanther:PTHR24229:SF32,hmmpanther:PTHR24229	.	.	ENSP00000374390	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,missense_variant,p.Gln380Arg,ENST00000389740,;	1239	47	45	SUCCESS
GPR149	344758	.	GRCh37	3	154145356	154145356	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs765980219	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	52	0	ENST00000389740.2:c.1123A>G	p.Ile375Val	p.I375V	ENST00000389740	NM_001038705.1	375	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43162.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGATGCAGC	NONE	byFrequency	.	hmmpanther:PTHR24229:SF32,hmmpanther:PTHR24229	.	.	ENSP00000374390	.	2/4	.	.	.	.	.	.	.	.	rs765980219,COSM1752976	2/4	PASS	ENST00000389740	Transcript	.	.	ENSG00000174948	23627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.009)	.	tolerated(0.08)	0,1	GP149_HUMAN	GPR149	HGNC	Q2MKA6_HUMAN	.	UPI00001AEEA9	SNV	GPR149,missense_variant,p.Ile375Val,ENST00000389740,;	1223	52	52	SUCCESS
MME	4311	.	GRCh37	3	154889935	154889935	+	synonymous_variant	Silent	SNP	C	C	A	rs201494121	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	152	346	0	ENST00000360490.2:c.2010C>A	p.Gly670=	p.G670=	ENST00000360490	NM_007289.2	670	ggC/ggA	0	.	T:0	.	T:0.0014	.	A	G	protein_coding	YES	CCDS3172.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCGAAGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF114,hmmpanther:PTHR11733	T:0	.	ENSP00000418525	T:0	21/23	.	.	.	.	.	.	.	.	rs201494121,COSM445839	21/23	PASS	ENST00000460393	Transcript	.	T:0.0002	ENSG00000196549	7154	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	NEP_HUMAN	MME	HGNC	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN	.	UPI0000033C41	SNV	MME,synonymous_variant,p.%3D,ENST00000360490,;MME,synonymous_variant,p.%3D,ENST00000460393,;MME,synonymous_variant,p.%3D,ENST00000492661,;MME,synonymous_variant,p.%3D,ENST00000493237,;MME,synonymous_variant,p.%3D,ENST00000462745,;MME-AS1,intron_variant,,ENST00000484721,;MME,non_coding_transcript_exon_variant,,ENST00000493888,;MME,downstream_gene_variant,,ENST00000495577,;	2130	346	328	SUCCESS
LEKR1	389170	.	GRCh37	3	156742645	156742645	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	228	125	372	1	ENST00000470811.1:c.388A>G	p.Ile130Val	p.I130V	ENST00000470811		130	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	.	.	1300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATATTGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000348936	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000356539	Transcript	.	.	ENSG00000197980	33765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	deleterious(0.03)	.	.	LEKR1	HGNC	J3KP02_HUMAN	.	UPI0001BB2D45	SNV	LEKR1,missense_variant,p.Ile434Val,ENST00000356539,;LEKR1,missense_variant,p.Ile130Val,ENST00000470811,;	1414	373	353	SUCCESS
TRIM59	286827	.	GRCh37	3	160156798	160156798	+	synonymous_variant	Silent	SNP	A	A	G	rs1227436495	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	43	126	0	ENST00000309784.4:c.174T>C	p.Asn58=	p.N58=	ENST00000309784	NM_173084.2	58	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS3190.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAATTAGG	NONE	.	.	Superfamily_domains:SSF57850,SMART_domains:SM00184,Pfam_domain:PF13639,Gene3D:3.30.40.10,hmmpanther:PTHR24098,hmmpanther:PTHR24098:SF6,PROSITE_profiles:PS50089	.	.	ENSP00000311219	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309784	Transcript	.	.	ENSG00000213186	30834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI59_HUMAN	TRIM59	HGNC	C9JE08_HUMAN,C9J9F0_HUMAN,C9J614_HUMAN,C9IZE0_HUMAN	.	UPI0000074490	SNV	TRIM59,synonymous_variant,p.%3D,ENST00000479460,;TRIM59,synonymous_variant,p.%3D,ENST00000309784,;TRIM59,synonymous_variant,p.%3D,ENST00000471155,;TRIM59,synonymous_variant,p.%3D,ENST00000496222,;TRIM59,synonymous_variant,p.%3D,ENST00000543469,;TRIM59,synonymous_variant,p.%3D,ENST00000468542,;TRIM59,synonymous_variant,p.%3D,ENST00000471396,;TRIM59,synonymous_variant,p.%3D,ENST00000494486,;SMC4,downstream_gene_variant,,ENST00000344722,;SMC4,downstream_gene_variant,,ENST00000357388,;SMC4,downstream_gene_variant,,ENST00000360111,;RP11-432B6.3,synonymous_variant,p.%3D,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,;	360	126	113	SUCCESS
SI	6476	.	GRCh37	3	164739156	164739156	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	39	102	0	ENST00000264382.3:c.3115A>G	p.Lys1039Glu	p.K1039E	ENST00000264382	NM_001041.3	1039	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3196.1	3115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTTTGGG	NONE	.	.	Superfamily_domains:SSF74650	.	.	ENSP00000264382	.	27/48	.	.	.	.	.	.	.	.	COSM3589569	27/48	PASS	ENST00000264382	Transcript	.	.	ENSG00000090402	10856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.08)	1	SUIS_HUMAN	SI	HGNC	.	.	UPI000022C287	SNV	SI,missense_variant,p.Lys1039Glu,ENST00000264382,;	3178	102	85	SUCCESS
LRRIQ4	344657	.	GRCh37	3	169539921	169539921	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	102	0	ENST00000340806.6:c.212A>G	p.Lys71Arg	p.K71R	ENST00000340806	NM_001080460.1	71	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46951.1	212	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAAGAACA	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF481,PROSITE_profiles:PS51450	.	.	ENSP00000342188	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000340806	Transcript	.	.	ENSG00000188306	34298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(1)	.	LRIQ4_HUMAN	LRRIQ4	HGNC	.	.	UPI0000197671	SNV	LRRIQ4,missense_variant,p.Lys71Arg,ENST00000340806,;	212	102	106	SUCCESS
RP11-379K17.4	0	.	GRCh37	3	169664452	169664452	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	87	0	ENST00000483289.2:n.2843C>T		p.*948*	ENST00000483289				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGGCAGC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000483289	Transcript	.	.	ENSG00000239219	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-379K17.4	Clone_based_vega_gene	.	.	.	SNV	RP11-379K17.4,non_coding_transcript_exon_variant,,ENST00000483289,;RP11-379K17.4,intron_variant,,ENST00000487580,;RP11-379K17.4,downstream_gene_variant,,ENST00000600502,;RP11-379K17.5,non_coding_transcript_exon_variant,,ENST00000494834,;	2843	88	57	SUCCESS
SPATA16	83893	.	GRCh37	3	172643281	172643281	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	71	186	0	ENST00000351008.3:c.1083T>A	p.Asp361Glu	p.D361E	ENST00000351008	NM_031955.5	361	gaT/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3221.1	1083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGATCTGA	NONE	.	.	hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015	.	.	ENSP00000341765	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000351008	Transcript	.	.	ENSG00000144962	29935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.621)	.	deleterious(0.04)	.	SPT16_HUMAN	SPATA16	HGNC	.	.	UPI000013D9BF	SNV	SPATA16,missense_variant,p.Asp361Glu,ENST00000351008,;	1267	186	154	SUCCESS
KCNMB3	27094	.	GRCh37	3	178984505	178984505	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	rs773675996	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	44	0	ENST00000349697.2:c.-7T>G		p.*3*	ENST00000349697	NM_171828.2			0	.	.	.	.	.	C	.	protein_coding	.	CCDS3225.1	.	RADIA|VARSCANS	.	AGGCCAGGGGT	NONE	.	.	.	.	.	ENSP00000327866	.	1/4	.	.	.	.	.	.	.	.	rs773675996	1/4	PASS	ENST00000349697	Transcript	.	.	ENSG00000171121	6287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMB3_HUMAN	KCNMB3	HGNC	.	.	UPI000013EA9C	SNV	KCNMB3,5_prime_UTR_variant,,ENST00000349697,;KCNMB3,5_prime_UTR_variant,,ENST00000497599,;	255	44	38	SUCCESS
ECE2	9718	.	GRCh37	3	184009911	184009911	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755379422	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	114	0	ENST00000402825.3:c.2537G>T	p.Ser846Ile	p.S846I	ENST00000402825	NM_014693.3	846	aGc/aTc	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS3256.2	2537	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGCCCTG	NONE	.	.	hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Gene3D:3.40.390.10,Pfam_domain:PF01431,Superfamily_domains:SSF55486	.	.	ENSP00000384223	.	19/19	.	.	.	.	.	.	.	.	rs755379422	19/19	PASS	ENST00000402825	Transcript	.	.	ENSG00000145194	13275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ECE2_HUMAN	ECE2	HGNC	.	.	UPI0001596888	SNV	ECE2,missense_variant,p.Ser699Ile,ENST00000359140,;ECE2,missense_variant,p.Ser774Ile,ENST00000357474,;ECE2,missense_variant,p.Ser728Ile,ENST00000404464,;ECE2,missense_variant,p.Ser846Ile,ENST00000402825,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,downstream_gene_variant,,ENST00000430587,;ECE2,downstream_gene_variant,,ENST00000488401,;ECE2,downstream_gene_variant,,ENST00000490579,;	2537	114	95	SUCCESS
EPHB3	2049	.	GRCh37	3	184298263	184298263	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	98	0	ENST00000330394.2:c.2246T>A	p.Leu749Gln	p.L749Q	ENST00000330394	NM_004443.3	749	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3268.1	2246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACCTGTCCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000332118	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.698)	.	deleterious(0.01)	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,missense_variant,p.Leu749Gln,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,non_coding_transcript_exon_variant,,ENST00000473079,;EPHB3,downstream_gene_variant,,ENST00000482987,;	2698	98	74	SUCCESS
RTP4	64108	.	GRCh37	3	187088757	187088757	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	45	103	0	ENST00000259030.2:c.337A>T	p.Arg113Trp	p.R113W	ENST00000259030	NM_022147.2	113	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33910.1	337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGAGGATT	NONE	.	.	hmmpanther:PTHR14402:SF8,hmmpanther:PTHR14402,Pfam_domain:PF13695	.	.	ENSP00000259030	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259030	Transcript	.	.	ENSG00000136514	23992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	RTP4_HUMAN	RTP4	HGNC	.	.	UPI000013D021	SNV	RTP4,missense_variant,p.Arg113Trp,ENST00000259030,;	447	104	98	SUCCESS
LEPREL1	0	.	GRCh37	3	189691795	189691795	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	113	0	ENST00000319332.5:c.1453-2A>T		p.X485_splice	ENST00000319332	NM_018192.3	485		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3294.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCTGGAAG	NONE	.	.	.	.	.	ENSP00000316881	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319332	Transcript	.	.	ENSG00000090530	19317	.	.	HIGH	9/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P3H2_HUMAN	LEPREL1	HGNC	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN	.	UPI000007460B	SNV	LEPREL1,splice_acceptor_variant,,ENST00000319332,;LEPREL1,splice_acceptor_variant,,ENST00000427335,;LEPREL1,non_coding_transcript_exon_variant,,ENST00000482780,;LEPREL1,downstream_gene_variant,,ENST00000470925,;LEPREL1,upstream_gene_variant,,ENST00000467131,;LEPREL1,upstream_gene_variant,,ENST00000463171,;LEPREL1,downstream_gene_variant,,ENST00000475095,;MTAPP2,upstream_gene_variant,,ENST00000437063,;	.	113	87	SUCCESS
CLDN16	10686	.	GRCh37	3	190120151	190120151	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs104893732	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	77	0	ENST00000264734.2:c.350G>T	p.Trp117Leu	p.W117L	ENST00000264734	NM_006580.3	117	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS3296.1	350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CCTCTGGTGGG	NONE	byCluster	.	hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF56,PROSITE_patterns:PS01346,Pfam_domain:PF00822	.	.	ENSP00000264734	.	2/5	.	.	.	.	.	.	.	.	CM001068,rs104893732	2/5	PASS	ENST00000264734	Transcript	.	.	ENSG00000113946	2037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CLD16_HUMAN	CLDN16	HGNC	.	.	UPI0000127AB8	SNV	CLDN16,missense_variant,p.Trp117Leu,ENST00000264734,;CLDN16,intron_variant,,ENST00000456423,;CLDN16,non_coding_transcript_exon_variant,,ENST00000468220,;	598	77	59	SUCCESS
CCDC50	152137	.	GRCh37	3	191078935	191078935	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	210	146	412	0	ENST00000392455.3:c.317A>G	p.Glu106Gly	p.E106G	ENST00000392455	NM_174908.3	106	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS33912.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGAGAAGA	NONE	.	.	Pfam_domain:PF15295,hmmpanther:PTHR22115:SF1,hmmpanther:PTHR22115,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000376250	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000392456	Transcript	.	.	ENSG00000152492	18111	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CCD50_HUMAN	CCDC50	HGNC	.	.	UPI000018F5EF	SNV	CCDC50,missense_variant,p.Glu106Gly,ENST00000392456,;CCDC50,missense_variant,p.Glu106Gly,ENST00000392455,;CCDC50,non_coding_transcript_exon_variant,,ENST00000460064,;	907	413	357	SUCCESS
ATP13A4	84239	.	GRCh37	3	193128796	193128796	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	138	356	1	ENST00000342695.4:c.3272T>C	p.Ile1091Thr	p.I1091T	ENST00000342695	NM_032279.2	1091	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3304.2	3272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTATATCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473	.	.	ENSP00000339182	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious(0.05)	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Ile107Thr,ENST00000400270,;ATP13A4,missense_variant,p.Ile1072Thr,ENST00000392443,;ATP13A4,missense_variant,p.Ile1091Thr,ENST00000342695,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000482964,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,3_prime_UTR_variant,,ENST00000428352,;	3595	357	321	SUCCESS
ATP13A4	84239	.	GRCh37	3	193232491	193232491	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	70	0	ENST00000342695.4:c.230C>A	p.Thr77Lys	p.T77K	ENST00000342695	NM_032279.2	77	aCa/aAa	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS3304.2	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTTGTCCTC	NONE	.	.	hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12409,TIGRFAM_domain:TIGR01657	.	.	ENSP00000339182	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,missense_variant,p.Thr77Lys,ENST00000392443,;ATP13A4,missense_variant,p.Thr77Lys,ENST00000342695,;ATP13A4,missense_variant,p.Thr77Lys,ENST00000295548,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000489140,;ATP13A4,missense_variant,p.Thr77Lys,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;	553	70	66	SUCCESS
OPA1	4976	.	GRCh37	3	193336697	193336697	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	64	0	ENST00000392438.3:c.596G>C	p.Gly199Ala	p.G199A	ENST00000392438	NM_015560.2	199	gGa/gCa	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS33917.1	596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGGATCTG	NONE	.	.	.	.	.	ENSP00000354681	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000361908	Transcript	.	.	ENSG00000198836	8140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.49)	.	OPA1_HUMAN	OPA1	HGNC	Q6PEK6_HUMAN,E5KLJ7_HUMAN,C9JY58_HUMAN	.	UPI0000422960	SNV	OPA1,missense_variant,p.Gly75Ala,ENST00000419435,;OPA1,missense_variant,p.Gly163Ala,ENST00000392437,;OPA1,missense_variant,p.Gly181Ala,ENST00000361715,;OPA1,missense_variant,p.Gly217Ala,ENST00000361828,;OPA1,missense_variant,p.Gly199Ala,ENST00000392438,;OPA1,missense_variant,p.Gly117Ala,ENST00000434811,;OPA1,missense_variant,p.Gly217Ala,ENST00000361510,;OPA1,missense_variant,p.Gly217Ala,ENST00000392436,;OPA1,missense_variant,p.Gly163Ala,ENST00000361150,;OPA1,missense_variant,p.Gly199Ala,ENST00000361908,;OPA1-AS1,splice_region_variant,,ENST00000433105,;OPA1-AS1,splice_region_variant,,ENST00000444085,;OPA1,non_coding_transcript_exon_variant,,ENST00000487986,;OPA1,non_coding_transcript_exon_variant,,ENST00000497189,;	830	64	55	SUCCESS
KCNH8	131096	.	GRCh37	3	19492664	19492664	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	55	0	ENST00000328405.2:c.1593A>T	p.Pro531=	p.P531=	ENST00000328405	NM_144633.2	531	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS2632.1	1593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAGATGA	NONE	.	.	Superfamily_domains:SSF51206,Gene3D:3bpzA01,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	.	.	ENSP00000328813	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,synonymous_variant,p.%3D,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000537696,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	1859	55	50	SUCCESS
APOD	347	.	GRCh37	3	195306268	195306268	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	30	82	1	ENST00000343267.3:c.65C>A	p.Ala22Glu	p.A22E	ENST00000343267	NM_001647.3	22	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS33925.1	65	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATGCTTGT	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01219,Prints_domain:PR02058,Superfamily_domains:SSF50814,PIRSF_domain:PIRSF036893,Gene3D:2.40.128.20,hmmpanther:PTHR10612:SF7,hmmpanther:PTHR10612	.	.	ENSP00000345179	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000343267	Transcript	.	.	ENSG00000189058	612	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.12)	.	APOD_HUMAN	APOD	HGNC	C9JX71_HUMAN	.	UPI00000369E0	SNV	APOD,missense_variant,p.Ala50Glu,ENST00000421243,;APOD,missense_variant,p.Ala22Glu,ENST00000453131,;APOD,missense_variant,p.Ala22Glu,ENST00000343267,;APOD,missense_variant,p.Ala22Glu,ENST00000458447,;APOD,non_coding_transcript_exon_variant,,ENST00000463719,;	427	84	85	SUCCESS
MUC4	4585	.	GRCh37	3	195511219	195511219	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	246	33	301	0	ENST00000463781.3:c.7232C>T	p.Thr2411Ile	p.T2411I	ENST00000463781	NM_018406.6	2411	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS54700.1	7232	RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGTGGAT	NONE	.	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	.	.	ENSP00000417498	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Thr2411Ile,ENST00000475231,;MUC4,missense_variant,p.Thr2411Ile,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Thr2411Ile,ENST00000477086,;MUC4,missense_variant,p.Thr2411Ile,ENST00000466475,;MUC4,missense_variant,p.Thr2411Ile,ENST00000478156,;MUC4,missense_variant,p.Thr2411Ile,ENST00000470451,;MUC4,missense_variant,p.Thr2411Ile,ENST00000479406,;MUC4,missense_variant,p.Thr2411Ile,ENST00000477756,;MUC4,missense_variant,p.Thr2411Ile,ENST00000462323,;MUC4,missense_variant,p.Thr2411Ile,ENST00000480843,;	7692	301	279	SUCCESS
TNK2	10188	.	GRCh37	3	195594061	195594061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	74	198	0	ENST00000333602.6:c.2961G>T	p.Gln987His	p.Q987H	ENST00000333602	NM_005781.4	987	caG/caT	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33927.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTCTGCAC	NONE	.	.	.	.	.	ENSP00000371341	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381916	Transcript	.	.	ENSG00000061938	19297	.	.	MODIFIER	13/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACK1_HUMAN	TNK2	HGNC	C9JDG3_HUMAN	.	UPI00004C9B08	SNV	TNK2,missense_variant,p.Gln556His,ENST00000416152,;TNK2,missense_variant,p.Gln987His,ENST00000392400,;TNK2,missense_variant,p.Gln987His,ENST00000333602,;TNK2,intron_variant,,ENST00000428187,;TNK2,intron_variant,,ENST00000381916,;TNK2,downstream_gene_variant,,ENST00000316664,;TNK2,downstream_gene_variant,,ENST00000424563,;TNK2,downstream_gene_variant,,ENST00000411741,;TNK2,downstream_gene_variant,,ENST00000478623,;TNK2,downstream_gene_variant,,ENST00000495247,;TNK2,non_coding_transcript_exon_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000464041,;TNK2,downstream_gene_variant,,ENST00000468680,;TNK2,downstream_gene_variant,,ENST00000439230,;TNK2,downstream_gene_variant,,ENST00000478715,;TNK2,downstream_gene_variant,,ENST00000481865,;TNK2,downstream_gene_variant,,ENST00000489628,;	.	198	164	SUCCESS
RNF168	165918	.	GRCh37	3	196199329	196199329	+	synonymous_variant	Silent	SNP	T	T	C	rs768995713	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	41	89	0	ENST00000318037.3:c.1077A>G	p.Ser359=	p.S359=	ENST00000318037	NM_152617.3	359	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3317.1	1077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTGATGT	NONE	.	.	hmmpanther:PTHR23328:SF1,hmmpanther:PTHR23328	.	.	ENSP00000320898	.	6/6	.	.	.	.	.	.	.	.	rs768995713	6/6	PASS	ENST00000318037	Transcript	.	.	ENSG00000163961	26661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN168_HUMAN	RNF168	HGNC	.	.	UPI00000741D1	SNV	RNF168,synonymous_variant,p.%3D,ENST00000318037,;CTD-2002J20.1,upstream_gene_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,;	1672	89	90	SUCCESS
EFHB	151651	.	GRCh37	3	19921298	19921298	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	23	38	0	ENST00000295824.9:c.2329-2A>G		p.X777_splice	ENST00000295824	NM_144715.3	777		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33715.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTAGAAA	NONE	.	.	.	.	.	ENSP00000295824	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000295824	Transcript	.	.	ENSG00000163576	26330	.	.	HIGH	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFHB_HUMAN	EFHB	HGNC	.	.	UPI0000209A4C	SNV	EFHB,splice_acceptor_variant,,ENST00000344838,;EFHB,splice_acceptor_variant,,ENST00000295824,;EFHB,downstream_gene_variant,,ENST00000467602,;	.	38	44	SUCCESS
EFHB	151651	.	GRCh37	3	19975568	19975568	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	26	0	ENST00000295824.9:c.-58C>A		p.*20*	ENST00000295824	NM_144715.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33715.2	.	MUTECT|MUSE	.	AAGCTGTACCT	NONE	.	.	.	.	.	ENSP00000295824	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000295824	Transcript	.	.	ENSG00000163576	26330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFHB_HUMAN	EFHB	HGNC	.	.	UPI0000209A4C	SNV	EFHB,5_prime_UTR_variant,,ENST00000295824,;EFHB,5_prime_UTR_variant,,ENST00000389256,;EFHB,intron_variant,,ENST00000344838,;EFHB,upstream_gene_variant,,ENST00000440022,;EFHB,non_coding_transcript_exon_variant,,ENST00000498089,;	105	26	27	SUCCESS
OXSM	54995	.	GRCh37	3	25833109	25833109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	50	113	0	ENST00000280701.3:c.598G>T	p.Gly200Cys	p.G200C	ENST00000280701	NM_017897.2	200	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS2643.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGGCCCA	NONE	.	.	hmmpanther:PTHR11712,PROSITE_patterns:PS00606,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR03150,Pfam_domain:PF00109,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901	.	.	ENSP00000280701	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000280701	Transcript	.	.	ENSG00000151093	26063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OXSM_HUMAN	OXSM	HGNC	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN	.	UPI000004713F	SNV	OXSM,missense_variant,p.Gly200Cys,ENST00000280701,;OXSM,missense_variant,p.Gly200Cys,ENST00000452098,;OXSM,missense_variant,p.Gly200Cys,ENST00000420173,;OXSM,missense_variant,p.Gly200Cys,ENST00000428266,;NGLY1,upstream_gene_variant,,ENST00000417874,;OXSM,intron_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,intron_variant,,ENST00000448177,;	697	113	105	SUCCESS
GADL1	339896	.	GRCh37	3	30903131	30903131	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs925584812	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	66	110	0	ENST00000282538.5:c.164T>C	p.Leu55Pro	p.L55P	ENST00000282538	NM_207359.2	55	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2649.2	164	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTAGCCTA	NONE	.	.	hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61	.	.	ENSP00000282538	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000282538	Transcript	.	.	ENSG00000144644	27949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.466)	.	deleterious(0.01)	.	GADL1_HUMAN	GADL1	HGNC	.	.	UPI000022BF90	SNV	GADL1,missense_variant,p.Leu55Pro,ENST00000454381,;GADL1,missense_variant,p.Leu55Pro,ENST00000282538,;	315	110	122	SUCCESS
CLASP2	23122	.	GRCh37	3	33552159	33552159	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs953040113	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	119	0	ENST00000468888.2:c.4232A>G	p.Asp1411Gly	p.D1411G	ENST00000468888		1411	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	.	4232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTAGTCTGCA	NONE	.	.	hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000419974	.	37/39	.	.	.	.	.	.	.	.	.	37/39	PASS	ENST00000468888	Transcript	.	.	ENSG00000163539	17078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	.	CLASP2	HGNC	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN	.	UPI0001B7944B	SNV	CLASP2,missense_variant,p.Asp892Gly,ENST00000307312,;CLASP2,missense_variant,p.Asp1402Gly,ENST00000359576,;CLASP2,missense_variant,p.Asp1170Gly,ENST00000461133,;CLASP2,missense_variant,p.Asp1411Gly,ENST00000468888,;CLASP2,missense_variant,p.Asp1410Gly,ENST00000399362,;CLASP2,missense_variant,p.Asp1190Gly,ENST00000480013,;CLASP2,3_prime_UTR_variant,,ENST00000539981,;CLASP2,intron_variant,,ENST00000487553,;CLASP2,3_prime_UTR_variant,,ENST00000476251,;	4279	119	101	SUCCESS
STAC	6769	.	GRCh37	3	36534678	36534678	+	synonymous_variant	Silent	SNP	T	T	C	rs199675015	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	33	90	0	ENST00000273183.3:c.723T>C	p.Asn241=	p.N241=	ENST00000273183	NM_003149.1	241	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS2662.1	723	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAATGGGCC	NONE	byCluster	.	hmmpanther:PTHR15135:SF3,hmmpanther:PTHR15135	.	.	ENSP00000273183	.	6/11	.	.	.	.	.	.	.	.	rs199675015	6/11	PASS	ENST00000273183	Transcript	.	.	ENSG00000144681	11353	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAC_HUMAN	STAC	HGNC	B4DZ13_HUMAN	.	UPI0000136081	SNV	STAC,synonymous_variant,p.%3D,ENST00000434649,;STAC,synonymous_variant,p.%3D,ENST00000273183,;STAC,synonymous_variant,p.%3D,ENST00000457375,;STAC,non_coding_transcript_exon_variant,,ENST00000476388,;STAC,3_prime_UTR_variant,,ENST00000427486,;STAC,non_coding_transcript_exon_variant,,ENST00000473452,;	1023	90	64	SUCCESS
TRANK1	9881	.	GRCh37	3	36897302	36897302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	79	167	0	ENST00000429976.2:c.3779A>T	p.Glu1260Val	p.E1260V	ENST00000429976		1260	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS46789.2	3779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTCCTCA	NONE	.	.	hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	.	.	ENSP00000416168	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000429976	Transcript	.	.	ENSG00000168016	29011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	TRNK1_HUMAN	TRANK1	HGNC	B7WP88_HUMAN	.	UPI00017BE82B	SNV	TRANK1,missense_variant,p.Glu710Val,ENST00000428977,;TRANK1,missense_variant,p.Glu710Val,ENST00000301807,;TRANK1,missense_variant,p.Glu1260Val,ENST00000429976,;	4027	167	166	SUCCESS
CHL1	10752	.	GRCh37	3	369957	369957	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1440567668	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	76	171	0	ENST00000397491.2:c.305A>T	p.His102Leu	p.H102L	ENST00000397491		102	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS2556.1	305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCACTTTC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000256509	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.14)	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,missense_variant,p.His102Leu,ENST00000397491,;CHL1,missense_variant,p.His102Leu,ENST00000435603,;CHL1,missense_variant,p.His102Leu,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000449294,;CHL1,downstream_gene_variant,,ENST00000421198,;CHL1,downstream_gene_variant,,ENST00000427688,;CHL1,non_coding_transcript_exon_variant,,ENST00000461289,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	947	171	151	SUCCESS
CCR8	1237	.	GRCh37	3	39374403	39374403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	62	0	ENST00000326306.4:c.581G>T	p.Trp194Leu	p.W194L	ENST00000326306	NM_005201.3	194	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS2684.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGGAAGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF11,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326432	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326306	Transcript	.	.	ENSG00000179934	1609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0.01)	.	CCR8_HUMAN	CCR8	HGNC	.	.	UPI0000043587	SNV	CCR8,missense_variant,p.Trp194Leu,ENST00000326306,;CCR8,missense_variant,p.Trp111Leu,ENST00000545843,;CCR8,3_prime_UTR_variant,,ENST00000414803,;HNRNPA1P21,upstream_gene_variant,,ENST00000424115,;	719	62	57	SUCCESS
TRAK1	22906	.	GRCh37	3	42226292	42226292	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	63	158	0	ENST00000327628.5:c.479A>G	p.Glu160Gly	p.E160G	ENST00000327628	NM_001042646.2	160	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS43072.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGAGGTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15751:SF11,hmmpanther:PTHR15751,Pfam_domain:PF04849	.	.	ENSP00000328998	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000327628	Transcript	.	.	ENSG00000182606	29947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	TRAK1_HUMAN	TRAK1	HGNC	.	.	UPI0000139F52	SNV	TRAK1,missense_variant,p.Glu86Gly,ENST00000449246,;TRAK1,missense_variant,p.Glu102Gly,ENST00000396175,;TRAK1,missense_variant,p.Glu102Gly,ENST00000341421,;TRAK1,missense_variant,p.Glu160Gly,ENST00000327628,;TRAK1,splice_region_variant,,ENST00000487159,;TRAK1,splice_region_variant,,ENST00000484786,;TRAK1,non_coding_transcript_exon_variant,,ENST00000469506,;TRAK1,downstream_gene_variant,,ENST00000418790,;	879	158	128	SUCCESS
CCDC13	152206	.	GRCh37	3	42775068	42775068	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	28	0	ENST00000310232.6:c.1405A>T	p.Ser469Cys	p.S469C	ENST00000310232	NM_144719.3	469	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS2705.1	1405	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGGACC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.12)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Ser469Cys,ENST00000310232,;CCDC13-AS1,intron_variant,,ENST00000446950,;CCDC13-AS1,intron_variant,,ENST00000418161,;CCDC13,upstream_gene_variant,,ENST00000472921,;CCDC13,upstream_gene_variant,,ENST00000496027,;	1489	28	28	SUCCESS
ZNF662	389114	.	GRCh37	3	42956611	42956611	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	100	0	ENST00000440367.2:c.1046A>T	p.Gln349Leu	p.Q349L	ENST00000440367	NM_207404.3	349	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS46807.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGCACC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24390:SF39,hmmpanther:PTHR24390,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000329264	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328199	Transcript	.	.	ENSG00000182983	31930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0)	.	.	ZNF662	HGNC	F8W7S8_HUMAN,A1A4T9_HUMAN	.	UPI00017E12B4	SNV	ZNF662,missense_variant,p.Gln349Leu,ENST00000541208,;ZNF662,missense_variant,p.Gln375Leu,ENST00000328199,;ZNF662,missense_variant,p.Gln349Leu,ENST00000440367,;ZNF662,intron_variant,,ENST00000422021,;KRBOX1,intron_variant,,ENST00000426937,;KRBOX1,intron_variant,,ENST00000451200,;ZNF662,downstream_gene_variant,,ENST00000430067,;ZNF662,non_coding_transcript_exon_variant,,ENST00000475386,;	1310	100	98	SUCCESS
POMGNT2	84892	.	GRCh37	3	43122344	43122344	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs780708086	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	84	0	ENST00000344697.2:c.580A>T	p.Met194Leu	p.M194L	ENST00000344697	NM_032806.5	194	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS2709.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATGAAGA	NONE	byFrequency	.	hmmpanther:PTHR20961:SF0,hmmpanther:PTHR20961,Pfam_domain:PF04577	.	.	ENSP00000344125	.	2/2	.	.	.	.	.	.	.	.	rs780708086	2/2	PASS	ENST00000344697	Transcript	.	.	ENSG00000144647	25902	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.881)	.	tolerated(0.06)	.	PMGT2_HUMAN	POMGNT2	HGNC	.	.	UPI0000037921	SNV	POMGNT2,missense_variant,p.Met194Leu,ENST00000441964,;POMGNT2,missense_variant,p.Met194Leu,ENST00000344697,;	926	84	67	SUCCESS
SNRK	54861	.	GRCh37	3	43389366	43389366	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	73	161	0	ENST00000296088.7:c.1615A>G	p.Ser539Gly	p.S539G	ENST00000296088	NM_017719.4	539	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS43075.1	1615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGTAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343	.	.	ENSP00000296088	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000296088	Transcript	.	.	ENSG00000163788	30598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	deleterious_low_confidence(0.01)	.	SNRK_HUMAN	SNRK	HGNC	E7EUC4_HUMAN	.	UPI00000558E4	SNV	SNRK,missense_variant,p.Ser539Gly,ENST00000296088,;SNRK,missense_variant,p.Ser539Gly,ENST00000429705,;SNRK,missense_variant,p.Ser539Gly,ENST00000454177,;SNRK,missense_variant,p.Ser333Gly,ENST00000437827,;SNRK-AS1,downstream_gene_variant,,ENST00000422681,;RP11-188P20.3,upstream_gene_variant,,ENST00000607513,;SNRK,intron_variant,,ENST00000468628,;SNRK,downstream_gene_variant,,ENST00000481892,;	1919	161	147	SUCCESS
ANO10	55129	.	GRCh37	3	43596767	43596767	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	137	0	ENST00000292246.3:c.1668+3A>G		p.X556_splice	ENST00000292246	NM_018075.3	556		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2710.2	.	RADIA|MUSE|VARSCANS	.	ACAATTACCTG	NONE	.	.	.	.	.	ENSP00000292246	.	.	.	.	.	.	.	.	.	.	COSM233873	.	PASS	ENST00000292246	Transcript	.	.	ENSG00000160746	25519	.	.	LOW	10/12	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ANO10_HUMAN	ANO10	HGNC	C9JQC9_HUMAN,C9JPY2_HUMAN,C9JJS5_HUMAN,C9JA49_HUMAN,C9IZD0_HUMAN,C9IYD3_HUMAN	.	UPI000020A59A	SNV	ANO10,splice_region_variant,,ENST00000451430,;ANO10,splice_region_variant,,ENST00000350459,;ANO10,splice_region_variant,,ENST00000292246,;ANO10,splice_region_variant,,ENST00000448045,;ANO10,splice_region_variant,,ENST00000414522,;ANO10,splice_region_variant,,ENST00000396091,;	.	137	107	SUCCESS
EXOSC7	23016	.	GRCh37	3	45046818	45046818	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	43	123	0	ENST00000265564.7:c.527G>C	p.Gly176Ala	p.G176A	ENST00000265564	NM_015004.3	176	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS2725.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGGTCGA	NONE	.	.	hmmpanther:PTHR11097:SF8,hmmpanther:PTHR11097	.	.	ENSP00000265564	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000265564	Transcript	.	.	ENSG00000075914	28112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.41)	.	deleterious(0.04)	.	EXOS7_HUMAN	EXOSC7	HGNC	B4DIU0_HUMAN	.	UPI000020A5E9	SNV	EXOSC7,missense_variant,p.Gly176Ala,ENST00000265564,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000482004,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,intron_variant,,ENST00000481405,;CLEC3B,intron_variant,,ENST00000490386,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000486727,;EXOSC7,downstream_gene_variant,,ENST00000467846,;	575	123	104	SUCCESS
FYCO1	79443	.	GRCh37	3	46011256	46011256	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs773759736	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	54	0	ENST00000296137.2:c.541A>G	p.Arg181Gly	p.R181G	ENST00000296137	NM_024513.3	181	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS2734.1	541	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTCCTGT	NONE	.	.	hmmpanther:PTHR18851:SF12,hmmpanther:PTHR18851	.	.	ENSP00000296137	.	7/18	.	.	.	.	.	.	.	.	rs773759736	7/18	PASS	ENST00000296137	Transcript	.	.	ENSG00000163820	14673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.616)	.	deleterious(0)	.	FYCO1_HUMAN	FYCO1	HGNC	C9J2W6_HUMAN	.	UPI000013E307	SNV	FYCO1,missense_variant,p.Arg181Gly,ENST00000296137,;FYCO1,missense_variant,p.Arg181Gly,ENST00000535325,;	747	54	32	SUCCESS
ITPR1	3708	.	GRCh37	3	4699946	4699946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	94	0	ENST00000354582.6:c.1135G>T	p.Asp379Tyr	p.D379Y	ENST00000354582		379	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54551.1	1090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGACAGC	NONE	.	.	PROSITE_profiles:PS50919,hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,SMART_domains:SM00472,Superfamily_domains:SSF82109	.	.	ENSP00000306253	.	12/61	.	.	.	.	.	.	.	.	.	12/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Asp379Tyr,ENST00000423119,;ITPR1,missense_variant,p.Asp364Tyr,ENST00000456211,;ITPR1,missense_variant,p.Asp379Tyr,ENST00000357086,;ITPR1,missense_variant,p.Asp364Tyr,ENST00000302640,;ITPR1,missense_variant,p.Asp364Tyr,ENST00000443694,;ITPR1,missense_variant,p.Asp379Tyr,ENST00000354582,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;	1440	94	75	SUCCESS
SMARCC1	6599	.	GRCh37	3	47651729	47651729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	28	60	0	ENST00000254480.5:c.2870A>G	p.Gln957Arg	p.Q957R	ENST00000254480	NM_003074.3	957	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS2758.1	2870	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTTGCTGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9	.	.	ENSP00000254480	.	26/28	.	.	.	.	.	.	.	.	.	26/28	PASS	ENST00000254480	Transcript	.	.	ENSG00000173473	11104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.03)	.	SMRC1_HUMAN	SMARCC1	HGNC	F8WE13_HUMAN	.	UPI000013CE3B	SNV	SMARCC1,missense_variant,p.Gln957Arg,ENST00000254480,;SMARCC1,non_coding_transcript_exon_variant,,ENST00000492896,;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;	2990	60	59	SUCCESS
PLXNB1	5364	.	GRCh37	3	48465277	48465277	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	126	0	ENST00000296440.6:c.744A>G	p.Val248=	p.V248=	ENST00000296440	NM_001130082.1	248	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2765.1	744	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGATACATA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000351338	.	3/38	.	.	.	.	.	.	.	.	.	3/38	PASS	ENST00000358536	Transcript	.	.	ENSG00000164050	9103	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLXB1_HUMAN	PLXNB1	HGNC	G8JLJ7_HUMAN,B3KRL1_HUMAN	.	UPI0000038131	SNV	PLXNB1,synonymous_variant,p.%3D,ENST00000358536,;PLXNB1,synonymous_variant,p.%3D,ENST00000296440,;PLXNB1,synonymous_variant,p.%3D,ENST00000456774,;PLXNB1,synonymous_variant,p.%3D,ENST00000358459,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000473683,;PLXNB1,synonymous_variant,p.%3D,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	1014	126	97	SUCCESS
MST1R	4486	.	GRCh37	3	49924915	49924915	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	36	119	0	ENST00000296474.3:c.4028A>T	p.Gln1343Leu	p.Q1343L	ENST00000296474	NM_002447.2	1343	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS2807.1	4028	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCTGCTCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,PIRSF_domain:PIRSF000617,Superfamily_domains:SSF56112	.	.	ENSP00000296474	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000296474	Transcript	.	.	ENSG00000164078	7381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.8)	.	RON_HUMAN	MST1R	HGNC	.	.	UPI000013E344	SNV	MST1R,missense_variant,p.Gln1294Leu,ENST00000344206,;MST1R,missense_variant,p.Gln1343Leu,ENST00000296474,;MST1R,downstream_gene_variant,,ENST00000434765,;MST1R,downstream_gene_variant,,ENST00000440292,;MST1R,3_prime_UTR_variant,,ENST00000411578,;MST1R,downstream_gene_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000490053,;	4056	119	84	SUCCESS
HEMK1	51409	.	GRCh37	3	50615001	50615001	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	109	0	ENST00000232854.4:c.611A>T	p.Gln204Leu	p.Q204L	ENST00000232854	NM_016173.3	204	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS2830.1	611	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCAGAGGT	NONE	.	.	hmmpanther:PTHR18895:SF7,hmmpanther:PTHR18895,Gene3D:3.40.50.150,TIGRFAM_domain:TIGR00536,TIGRFAM_domain:TIGR03534,Pfam_domain:PF13659,Superfamily_domains:SSF53335	.	.	ENSP00000232854	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000232854	Transcript	.	.	ENSG00000114735	24923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.15)	.	HEMK1_HUMAN	HEMK1	HGNC	.	.	UPI000012C594	SNV	HEMK1,missense_variant,p.Gln204Leu,ENST00000455834,;HEMK1,missense_variant,p.Gln204Leu,ENST00000232854,;HEMK1,missense_variant,p.Gln42Leu,ENST00000443894,;HEMK1,missense_variant,p.Gln204Leu,ENST00000434410,;HEMK1,3_prime_UTR_variant,,ENST00000448997,;HEMK1,non_coding_transcript_exon_variant,,ENST00000482974,;HEMK1,downstream_gene_variant,,ENST00000424388,;	1163	109	80	SUCCESS
RPL29	6159	.	GRCh37	3	52028106	52028106	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	12	0	ENST00000294189.6:c.139A>G	p.Lys47Glu	p.K47E	ENST00000294189	NM_000992.2	47	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS2845.1	139	RADIA|MUTECT|MUSE	.	CTTCTTGGCAA	NONE	.	.	hmmpanther:PTHR12884	.	.	ENSP00000418868	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000466397	Transcript	.	.	ENSG00000162244	10331	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.12)	.	deleterious(0.04)	.	RL29_HUMAN	RPL29	HGNC	Q6IPI1_HUMAN	.	UPI0000167B81	SNV	RPL29,missense_variant,p.Lys47Glu,ENST00000479017,;RPL29,missense_variant,p.Lys47Glu,ENST00000492277,;RPL29,missense_variant,p.Lys47Glu,ENST00000466397,;RPL29,missense_variant,p.Lys47Glu,ENST00000294189,;RPL29,missense_variant,p.Lys47Glu,ENST00000495383,;RPL29,missense_variant,p.Lys47Glu,ENST00000475248,;ACY1,downstream_gene_variant,,ENST00000404366,;ACY1,downstream_gene_variant,,ENST00000476351,;ACY1,downstream_gene_variant,,ENST00000494103,;ACY1,downstream_gene_variant,,ENST00000476854,;ACY1,downstream_gene_variant,,ENST00000458031,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463937,;RPL29,downstream_gene_variant,,ENST00000481629,;RPL29,3_prime_UTR_variant,,ENST00000480306,;RPL29,downstream_gene_variant,,ENST00000486565,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463721,;ACY1,downstream_gene_variant,,ENST00000491318,;	280	12	13	SUCCESS
TLR9	54106	.	GRCh37	3	52257484	52257484	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	5	63	0	ENST00000360658.2:c.848T>C	p.Leu283Pro	p.L283P	ENST00000360658	NM_017442.3	283	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	.	1310	MUTECT|VARSCANS	.	GGCTCAGGTGG	NONE	.	.	hmmpanther:PTHR24373:SF37,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000417517	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000494383	Transcript	.	.	ENSG00000173366	15633	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.05)	.	.	TLR9	Uniprot_gn	C3W5P5_HUMAN	.	UPI0001B795AC	SNV	TLR9,missense_variant,p.Leu437Pro,ENST00000494383,;TLR9,missense_variant,p.Leu307Pro,ENST00000597542,;TLR9,missense_variant,p.Leu283Pro,ENST00000360658,;TLR9,downstream_gene_variant,,ENST00000478201,;	1308	63	58	SUCCESS
SEMA3G	56920	.	GRCh37	3	52471561	52471561	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	64	140	0	ENST00000231721.2:c.1860G>T	p.Gly620=	p.G620=	ENST00000231721	NM_020163.1	620	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS2856.1	1860	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCCCTGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	.	.	ENSP00000231721	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000231721	Transcript	.	.	ENSG00000010319	30400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3G_HUMAN	SEMA3G	HGNC	.	.	UPI000004250D	SNV	SEMA3G,synonymous_variant,p.%3D,ENST00000231721,;SEMA3G,downstream_gene_variant,,ENST00000475739,;SEMA3G,downstream_gene_variant,,ENST00000465657,;	1860	140	120	SUCCESS
SEMA3G	56920	.	GRCh37	3	52474434	52474434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	47	0	ENST00000231721.2:c.1102G>T	p.Gly368Trp	p.G368W	ENST00000231721	NM_020163.1	368	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS2856.1	1102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCCCACT	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000231721	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000231721	Transcript	.	.	ENSG00000010319	30400	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0.03)	.	SEM3G_HUMAN	SEMA3G	HGNC	.	.	UPI000004250D	SNV	SEMA3G,missense_variant,p.Gly368Trp,ENST00000231721,;SEMA3G,downstream_gene_variant,,ENST00000475739,;SEMA3G,3_prime_UTR_variant,,ENST00000465657,;	1102	47	41	SUCCESS
STAB1	23166	.	GRCh37	3	52538054	52538054	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	52	0	ENST00000321725.6:c.1033A>T	p.Arg345Trp	p.R345W	ENST00000321725	NM_015136.2	345	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS33768.1	1033	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAGGGAA	NONE	.	.	SMART_domains:SM00181,Gene3D:2gy5A03,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	10/69	.	.	.	.	.	.	.	.	.	10/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.639)	.	deleterious(0)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Arg345Trp,ENST00000321725,;STAB1,non_coding_transcript_exon_variant,,ENST00000481607,;STAB1,upstream_gene_variant,,ENST00000484850,;STAB1,downstream_gene_variant,,ENST00000479355,;	1109	52	46	SUCCESS
ITIH4	3700	.	GRCh37	3	52860032	52860032	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	69	0	ENST00000266041.4:c.631-2A>T		p.X211_splice	ENST00000266041	NM_002218.4	211		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2865.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTGGAGG	NONE	.	.	.	.	.	ENSP00000266041	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	HIGH	5/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	SNV	ITIH4,splice_acceptor_variant,,ENST00000266041,;ITIH4,splice_acceptor_variant,,ENST00000346281,;ITIH4,splice_acceptor_variant,,ENST00000434759,;ITIH4,splice_acceptor_variant,,ENST00000485816,;ITIH4,splice_acceptor_variant,,ENST00000406595,;ITIH4,intron_variant,,ENST00000441637,;ITIH4-AS1,downstream_gene_variant,,ENST00000478366,;ITIH4,upstream_gene_variant,,ENST00000467462,;ITIH4,upstream_gene_variant,,ENST00000471505,;ITIH4,upstream_gene_variant,,ENST00000484632,;RP5-966M1.6,downstream_gene_variant,,ENST00000513520,;ITIH4,splice_acceptor_variant,,ENST00000537897,;ITIH4,splice_acceptor_variant,,ENST00000491663,;RP5-966M1.6,splice_acceptor_variant,,ENST00000468472,;ITIH4,upstream_gene_variant,,ENST00000485894,;ITIH4,upstream_gene_variant,,ENST00000483372,;ITIH4,downstream_gene_variant,,ENST00000473904,;	.	69	45	SUCCESS
FAM208A	0	.	GRCh37	3	56697755	56697755	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	53	0	ENST00000493960.2:c.1023-155A>G		p.*341*	ENST00000493960	NM_001112736.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46853.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCTAGTAA	NONE	.	.	.	.	.	ENSP00000417509	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000493960	Transcript	.	.	ENSG00000163946	30314	.	.	MODIFIER	7/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F208A_HUMAN	FAM208A	HGNC	.	.	UPI0000422561	SNV	FAM208A,5_prime_UTR_variant,,ENST00000431842,;FAM208A,intron_variant,,ENST00000355628,;FAM208A,intron_variant,,ENST00000493960,;FAM208A,intron_variant,,ENST00000478052,;	.	53	48	SUCCESS
CADPS	8618	.	GRCh37	3	62631427	62631427	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	96	0	ENST00000383710.4:c.1295A>G	p.Gln432Arg	p.Q432R	ENST00000383710	NM_003716.3	432	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS46858.1	1295	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCTGTAGT	NONE	.	.	hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	.	.	ENSP00000373215	.	6/30	.	.	.	.	.	.	.	.	.	6/30	PASS	ENST00000383710	Transcript	.	.	ENSG00000163618	1426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.13)	.	CAPS1_HUMAN	CADPS	HGNC	.	.	UPI00001C036A	SNV	CADPS,missense_variant,p.Gln432Arg,ENST00000357948,;CADPS,missense_variant,p.Gln432Arg,ENST00000283269,;CADPS,missense_variant,p.Gln432Arg,ENST00000383710,;CADPS,missense_variant,p.Gln432Arg,ENST00000490353,;	1645	96	81	SUCCESS
PRICKLE2	166336	.	GRCh37	3	64148718	64148718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	62	0	ENST00000295902.6:c.232C>A	p.His78Asn	p.H78N	ENST00000295902	NM_198859.3	78	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS2902.1	232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGTAGTA	NONE	.	.	PROSITE_profiles:PS51303,hmmpanther:PTHR24218:SF5,hmmpanther:PTHR24218,Pfam_domain:PF06297	.	.	ENSP00000295902	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000295902	Transcript	.	.	ENSG00000163637	20340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.09)	.	PRIC2_HUMAN	PRICKLE2	HGNC	C9JY03_HUMAN	.	UPI0000160A8B	SNV	PRICKLE2,missense_variant,p.His78Asn,ENST00000295902,;PRICKLE2,missense_variant,p.His78Asn,ENST00000498162,;PRICKLE2,missense_variant,p.His134Asn,ENST00000564377,;	818	62	64	SUCCESS
KBTBD8	84541	.	GRCh37	3	67054509	67054509	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs749171326	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	44	98	0	ENST00000417314.2:c.1118A>T	p.Lys373Ile	p.K373I	ENST00000417314		373	aAa/aTa	0	.	.	.	.	.	T	K/I	protein_coding	YES	CCDS2906.2	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAAACCAT	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000401878	.	3/4	.	.	.	.	.	.	.	.	rs749171326	3/4	PASS	ENST00000417314	Transcript	.	.	ENSG00000163376	30691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0.03)	.	KBTB8_HUMAN	KBTBD8	HGNC	C9JAA6_HUMAN,C9J331_HUMAN	.	UPI0000209974	SNV	KBTBD8,missense_variant,p.Lys373Ile,ENST00000417314,;KBTBD8,missense_variant,p.Lys347Ile,ENST00000295568,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,downstream_gene_variant,,ENST00000484414,;KBTBD8,downstream_gene_variant,,ENST00000469661,;	1167	98	84	SUCCESS
ROBO2	6092	.	GRCh37	3	77595492	77595492	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761239340	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	21	45	0	ENST00000461745.1:c.938C>T	p.Pro313Leu	p.P313L	ENST00000461745	NM_002942.4	313	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54609.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCCCCCAC	NONE	.	.	hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000417335	.	8/27	.	.	.	.	.	.	.	.	rs761239340	8/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.713)	.	deleterious(0)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Pro313Leu,ENST00000332191,;ROBO2,missense_variant,p.Pro333Leu,ENST00000602589,;ROBO2,missense_variant,p.Pro313Leu,ENST00000461745,;ROBO2,missense_variant,p.Pro329Leu,ENST00000487694,;ROBO2,missense_variant,p.Pro313Leu,ENST00000473767,;	1265	45	55	SUCCESS
CADM2	253559	.	GRCh37	3	85961527	85961527	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	112	215	0	ENST00000407528.2:c.507A>T	p.Val169=	p.V169=	ENST00000407528	NM_001167674.1	169	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33792.1	513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTAAAATA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000384193	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000405615	Transcript	.	.	ENSG00000175161	29849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADM2_HUMAN	CADM2	HGNC	G3XHN8_HUMAN	.	UPI000013F077	SNV	CADM2,synonymous_variant,p.%3D,ENST00000407528,;CADM2,synonymous_variant,p.%3D,ENST00000383699,;CADM2,synonymous_variant,p.%3D,ENST00000405615,;	513	215	241	SUCCESS
SSUH2	51066	.	GRCh37	3	8661623	8661623	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs778222114	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	120	0	ENST00000317371.4:c.993T>A	p.Tyr331Ter	p.Y331*	ENST00000317371		331	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS58815.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCATAGAT	NONE	byFrequency	.	hmmpanther:PTHR15852:SF7,hmmpanther:PTHR15852	.	.	ENSP00000439378	.	12/12	.	.	.	.	.	.	.	.	rs778222114	12/12	PASS	ENST00000544814	Transcript	.	.	ENSG00000125046	24809	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSUH2_HUMAN	SSUH2	HGNC	C9JZA7_HUMAN	.	UPI000206527B	SNV	SSUH2,stop_gained,p.Tyr331Ter,ENST00000317371,;SSUH2,stop_gained,p.Tyr331Ter,ENST00000341795,;SSUH2,stop_gained,p.Tyr353Ter,ENST00000544814,;SSUH2,3_prime_UTR_variant,,ENST00000415132,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;	1099	120	88	SUCCESS
SRGAP3	9901	.	GRCh37	3	9068619	9068619	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	80	0	ENST00000383836.3:c.1600G>A	p.Gly534Arg	p.G534R	ENST00000383836	NM_014850.3	534	Gga/Aga	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS2572.1	1600	RADIA|MUTECT|MUSE	.	CTTACCATATA	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000373347	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000383836	Transcript	.	.	ENSG00000196220	19744	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SRGP3_HUMAN	SRGAP3	HGNC	.	.	UPI0000074099	SNV	SRGAP3,missense_variant,p.Gly510Arg,ENST00000360413,;SRGAP3,missense_variant,p.Gly534Arg,ENST00000383836,;SRGAP3,splice_region_variant,,ENST00000433332,;SRGAP3,splice_region_variant,,ENST00000475560,;	2028	80	63	SUCCESS
SRGAP3	9901	.	GRCh37	3	9068641	9068641	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	85	0	ENST00000383836.3:c.1578C>G	p.Cys526Trp	p.C526W	ENST00000383836	NM_014850.3	526	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS2572.1	1578	RADIA|MUTECT|MUSE	.	CGGATGCAGCT	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000373347	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000383836	Transcript	.	.	ENSG00000196220	19744	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SRGP3_HUMAN	SRGAP3	HGNC	.	.	UPI0000074099	SNV	SRGAP3,missense_variant,p.Cys502Trp,ENST00000360413,;SRGAP3,missense_variant,p.Cys526Trp,ENST00000383836,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000475560,;	2006	85	60	SUCCESS
ARL13B	200894	.	GRCh37	3	93754239	93754239	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1258841876	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	55	128	0	ENST00000394222.3:c.445C>G	p.Leu149Val	p.L149V	ENST00000394222	NM_001174150.1	149	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS2925.1	445	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCTCTGGAA	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF102,hmmpanther:PTHR11711,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	.	.	ENSP00000377769	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000394222	Transcript	.	.	ENSG00000169379	25419	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0.03)	.	AR13B_HUMAN	ARL13B	HGNC	B4DRI8_HUMAN	.	UPI00001B94DF	SNV	ARL13B,missense_variant,p.Leu46Val,ENST00000535334,;ARL13B,missense_variant,p.Leu149Val,ENST00000471138,;ARL13B,missense_variant,p.Leu149Val,ENST00000394222,;ARL13B,missense_variant,p.Leu42Val,ENST00000303097,;ARL13B,5_prime_UTR_variant,,ENST00000539730,;ARL13B,non_coding_transcript_exon_variant,,ENST00000486562,;ARL13B,3_prime_UTR_variant,,ENST00000335438,;ARL13B,intron_variant,,ENST00000460371,;	720	128	133	SUCCESS
SLC9B1	150159	.	GRCh37	4	103822469	103822469	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	46	184	0	ENST00000296422.7:c.1353T>A	p.Ala451=	p.A451=	ENST00000296422	NM_139173.3	451	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS34041.1	1353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGAGCCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Pfam_domain:PF00999	.	.	ENSP00000296422	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000296422	Transcript	.	.	ENSG00000164037	24244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9B1_HUMAN	SLC9B1	HGNC	D6RGI9_HUMAN	.	UPI000020B281	SNV	SLC9B1,synonymous_variant,p.%3D,ENST00000296422,;SLC9B1,intron_variant,,ENST00000394789,;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,non_coding_transcript_exon_variant,,ENST00000509614,;SLC9B1,non_coding_transcript_exon_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,intron_variant,,ENST00000503584,;SLC9B1,intron_variant,,ENST00000514972,;PABPC1P7,downstream_gene_variant,,ENST00000413177,;	1495	184	176	SUCCESS
NPNT	255743	.	GRCh37	4	106888492	106888492	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	61	160	1	ENST00000379987.2:c.1493A>G	p.Gln498Arg	p.Q498R	ENST00000379987	NM_001033047.2	498	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS54785.1	1583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGGTGT	NONE	.	.	PROSITE_profiles:PS50060,hmmpanther:PTHR24050:SF19,hmmpanther:PTHR24050,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	.	.	ENSP00000389252	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000427316	Transcript	.	.	ENSG00000168743	27405	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.3)	.	NPNT_HUMAN	NPNT	HGNC	D6RE63_HUMAN	.	UPI0001AE758D	SNV	NPNT,missense_variant,p.Gln528Arg,ENST00000427316,;NPNT,missense_variant,p.Gln545Arg,ENST00000503451,;NPNT,missense_variant,p.Gln515Arg,ENST00000453617,;NPNT,missense_variant,p.Gln499Arg,ENST00000506666,;NPNT,missense_variant,p.Gln498Arg,ENST00000379987,;NPNT,missense_variant,p.Gln469Arg,ENST00000305572,;NPNT,missense_variant,p.Gln469Arg,ENST00000514622,;NPNT,intron_variant,,ENST00000505917,;NPNT,intron_variant,,ENST00000504787,;NPNT,intron_variant,,ENST00000514837,;NPNT,non_coding_transcript_exon_variant,,ENST00000514632,;	1795	161	118	SUCCESS
TBCK	93627	.	GRCh37	4	107154797	107154797	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs758933723	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	108	260	0	ENST00000273980.5:c.1460A>T	p.His487Leu	p.H487L	ENST00000273980		487	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS54788.1	1460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATGAATA	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF22,hmmpanther:PTHR22957,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000273980	.	17/27	.	.	.	.	.	.	.	.	rs758933723	17/27	PASS	ENST00000273980	Transcript	.	.	ENSG00000145348	28261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.06)	.	TBCK_HUMAN	TBCK	HGNC	D6RDY5_HUMAN,D6RDG2_HUMAN,D6RC61_HUMAN,D6R950_HUMAN	.	UPI000013EF70	SNV	TBCK,missense_variant,p.His448Leu,ENST00000394706,;TBCK,missense_variant,p.His424Leu,ENST00000361687,;TBCK,missense_variant,p.His17Leu,ENST00000503516,;TBCK,missense_variant,p.His487Leu,ENST00000273980,;TBCK,missense_variant,p.His487Leu,ENST00000394708,;TBCK,missense_variant,p.His487Leu,ENST00000432496,;TBCK,upstream_gene_variant,,ENST00000506615,;TBCK,3_prime_UTR_variant,,ENST00000508666,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;	1908	260	228	SUCCESS
ALPK1	80216	.	GRCh37	4	113303587	113303587	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	98	222	0	ENST00000177648.9:c.155A>T	p.Gln52Leu	p.Q52L	ENST00000177648		52	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS3697.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCAGGAGG	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30	.	.	ENSP00000398048	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000458497	Transcript	.	.	ENSG00000073331	20917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious(0)	.	ALPK1_HUMAN	ALPK1	HGNC	.	.	UPI000045725F	SNV	ALPK1,missense_variant,p.Gln52Leu,ENST00000458497,;ALPK1,missense_variant,p.Gln52Leu,ENST00000177648,;ALPK1,intron_variant,,ENST00000504176,;ALPK1,missense_variant,p.Gln52Leu,ENST00000505127,;ALPK1,missense_variant,p.Gln52Leu,ENST00000515330,;ALPK1,non_coding_transcript_exon_variant,,ENST00000509688,;ALPK1,intron_variant,,ENST00000515106,;ALPK1,intron_variant,,ENST00000509722,;ALPK1,upstream_gene_variant,,ENST00000504745,;	434	222	199	SUCCESS
ANK2	287	.	GRCh37	4	114278661	114278661	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	36	108	0	ENST00000357077.4:c.8887A>G	p.Thr2963Ala	p.T2963A	ENST00000357077	NM_001148.4	2963	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3702.1	8887	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTACCATC	NONE	.	.	hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Thr2930Ala,ENST00000264366,;ANK2,missense_variant,p.Thr2963Ala,ENST00000357077,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;	8940	108	80	SUCCESS
NDST4	64579	.	GRCh37	4	115858495	115858495	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	36	90	0	ENST00000264363.2:c.1386C>T	p.Gly462=	p.G462=	ENST00000264363	NM_022569.1	462	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3706.1	1386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGCCCTT	NONE	.	.	Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	.	.	ENSP00000264363	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000264363	Transcript	.	.	ENSG00000138653	20779	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDST4_HUMAN	NDST4	HGNC	.	.	UPI000006CED7	SNV	NDST4,synonymous_variant,p.%3D,ENST00000264363,;NDST4,synonymous_variant,p.%3D,ENST00000504854,;NDST4,non_coding_transcript_exon_variant,,ENST00000514570,;	2065	90	88	SUCCESS
NDST4	64579	.	GRCh37	4	115997739	115997739	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	35	108	0	ENST00000264363.2:c.454A>G	p.Lys152Glu	p.K152E	ENST00000264363	NM_022569.1	152	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3706.1	454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTTTTCTA	NONE	.	.	Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	.	.	ENSP00000264363	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000264363	Transcript	.	.	ENSG00000138653	20779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	tolerated(0.06)	.	NDST4_HUMAN	NDST4	HGNC	.	.	UPI000006CED7	SNV	NDST4,missense_variant,p.Lys152Glu,ENST00000264363,;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;	1133	108	98	SUCCESS
NDST3	9348	.	GRCh37	4	119174753	119174753	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	95	297	0	ENST00000296499.5:c.2499T>A	p.Ser833=	p.S833=	ENST00000296499	NM_004784.2	833	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3708.1	2499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTGATGT	NONE	.	.	hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000296499	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000296499	Transcript	.	.	ENSG00000164100	7682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDST3_HUMAN	NDST3	HGNC	.	.	UPI0000071C44	SNV	NDST3,synonymous_variant,p.%3D,ENST00000296499,;	2902	297	251	SUCCESS
METTL14	57721	.	GRCh37	4	119606646	119606646	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	88	223	0	ENST00000388822.5:c.-44G>C		p.*15*	ENST00000388822				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34053.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGAGATT	NONE	.	.	.	.	.	ENSP00000373474	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000388822	Transcript	.	.	ENSG00000145388	29330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET14_HUMAN	METTL14	HGNC	B4DJF7_HUMAN	.	UPI00000437DD	SNV	METTL14,5_prime_UTR_variant,,ENST00000388822,;METTL14,5_prime_UTR_variant,,ENST00000506780,;METTL14,5_prime_UTR_variant,,ENST00000508801,;	124	223	173	SUCCESS
SEC24D	9871	.	GRCh37	4	119727008	119727008	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	27	0	ENST00000280551.6:c.903A>G	p.Ile301Met	p.I301M	ENST00000280551		301	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS3710.1	903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGTATCAT	NONE	.	.	hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803,Superfamily_domains:SSF81995	.	.	ENSP00000280551	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000280551	Transcript	1	.	ENSG00000150961	10706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.182)	.	deleterious(0.01)	.	SC24D_HUMAN	SEC24D	HGNC	E9PDM8_HUMAN,D6RGJ5_HUMAN	.	UPI00001AEA4F	SNV	SEC24D,missense_variant,p.Ile302Met,ENST00000379735,;SEC24D,missense_variant,p.Ile301Met,ENST00000280551,;SEC24D,5_prime_UTR_variant,,ENST00000419654,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;SEC24D,3_prime_UTR_variant,,ENST00000506622,;SEC24D,3_prime_UTR_variant,,ENST00000509818,;	1142	27	40	SUCCESS
SYNPO2	171024	.	GRCh37	4	119953093	119953093	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	47	159	1	ENST00000429713.2:c.3163A>T	p.Thr1055Ser	p.T1055S	ENST00000429713	NM_001128933.1	1055	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS34054.1	3163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCACCTCG	NONE	.	.	hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.43)	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,missense_variant,p.Thr1055Ser,ENST00000434046,;SYNPO2,missense_variant,p.Thr1055Ser,ENST00000307142,;SYNPO2,missense_variant,p.Thr1055Ser,ENST00000429713,;SYNPO2,intron_variant,,ENST00000448416,;SYNPO2,intron_variant,,ENST00000504178,;	3359	160	103	SUCCESS
BBS7	55212	.	GRCh37	4	122756329	122756329	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	131	0	ENST00000264499.4:c.1481A>G	p.His494Arg	p.H494R	ENST00000264499	NM_176824.2	494	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS3724.1	1481	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGATGGAGT	NONE	.	.	hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091	.	.	ENSP00000264499	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000264499	Transcript	1	.	ENSG00000138686	18758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BBS7_HUMAN	BBS7	HGNC	H0Y973_HUMAN	.	UPI00001684D7	SNV	BBS7,missense_variant,p.His494Arg,ENST00000264499,;BBS7,missense_variant,p.His494Arg,ENST00000506636,;	1665	131	87	SUCCESS
KIAA1109	84162	.	GRCh37	4	123113385	123113385	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	52	91	0	ENST00000264501.4:c.903A>T		p.X301_splice	ENST00000264501		301	ggA/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43267.1	903	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGACTTGT	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	11/86	.	.	.	.	.	.	.	.	.	11/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,synonymous_variant,p.%3D,ENST00000424425,;KIAA1109,synonymous_variant,p.%3D,ENST00000455637,;KIAA1109,synonymous_variant,p.%3D,ENST00000264501,;KIAA1109,synonymous_variant,p.%3D,ENST00000388738,;KIAA1109,upstream_gene_variant,,ENST00000495260,;	1276	91	105	SUCCESS
ADAD1	132612	.	GRCh37	4	123336766	123336766	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	91	0	ENST00000296513.2:c.1482T>A	p.Thr494=	p.T494=	ENST00000296513	NM_139243.3	494	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS34058.1	1482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACTGAAAG	NONE	.	.	PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF44,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	.	.	ENSP00000296513	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000296513	Transcript	.	.	ENSG00000164113	30713	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAD1_HUMAN	ADAD1	HGNC	C9JGM6_HUMAN,C9JAT9_HUMAN	.	UPI000006DF76	SNV	ADAD1,synonymous_variant,p.%3D,ENST00000388724,;ADAD1,synonymous_variant,p.%3D,ENST00000296513,;ADAD1,synonymous_variant,p.%3D,ENST00000388725,;	1667	91	80	SUCCESS
SPATA5	166378	.	GRCh37	4	123859404	123859404	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	75	0	ENST00000274008.4:c.1458A>T		p.X486_splice	ENST00000274008	NM_145207.2	486	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3730.1	1458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGTAAG	NONE	.	.	hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000274008	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000274008	Transcript	.	.	ENSG00000145375	18119	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPAT5_HUMAN	SPATA5	HGNC	.	.	UPI000013D9E6	SNV	SPATA5,synonymous_variant,p.%3D,ENST00000274008,;SPATA5,splice_region_variant,,ENST00000422835,;	1527	75	48	SUCCESS
FAT4	79633	.	GRCh37	4	126241950	126241950	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	17	210	0	ENST00000394329.3:c.4384C>A	p.Gln1462Lys	p.Q1462K	ENST00000394329	NM_024582.4	1462	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS3732.3	4384	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACAGATG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.93)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Gln1462Lys,ENST00000394329,;	4397	210	165	SUCCESS
FAT4	79633	.	GRCh37	4	126242079	126242079	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	133	1	ENST00000394329.3:c.4513A>T	p.Ile1505Leu	p.I1505L	ENST00000394329	NM_024582.4	1505	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS3732.3	4513	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAATAGAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Ile1505Leu,ENST00000394329,;	4526	134	90	SUCCESS
FAT4	79633	.	GRCh37	4	126328165	126328165	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	113	0	ENST00000394329.3:c.5438T>C	p.Leu1813Pro	p.L1813P	ENST00000394329	NM_024582.4	1813	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS3732.3	5438	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCTAGTTC	BUFFER|p.R1815C|c.5443C>T|3,BUFFER|p.R1815C|c.5443C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,missense_variant,p.Leu1813Pro,ENST00000394329,;FAT4,missense_variant,p.Leu111Pro,ENST00000335110,;	5451	113	75	SUCCESS
FAT4	79633	.	GRCh37	4	126328166	126328166	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	111	1	ENST00000394329.3:c.5439A>T	p.Leu1813=	p.L1813=	ENST00000394329	NM_024582.4	1813	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3732.3	5439	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTAGTTCG	BUFFER|p.R1815C|c.5443C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000377862	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,synonymous_variant,p.%3D,ENST00000394329,;FAT4,synonymous_variant,p.%3D,ENST00000335110,;	5452	112	75	SUCCESS
LARP1B	55132	.	GRCh37	4	129028654	129028654	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	30	0	ENST00000326639.6:c.988+186A>G		p.*330*	ENST00000326639	NM_018078.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3738.1	.	MUTECT|MUSE	.	GATTTAAGAAT	NONE	.	.	.	.	.	ENSP00000321997	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	.	.	MODIFIER	9/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	SNV	LARP1B,3_prime_UTR_variant,,ENST00000432347,;LARP1B,intron_variant,,ENST00000441387,;LARP1B,intron_variant,,ENST00000512292,;LARP1B,intron_variant,,ENST00000427266,;LARP1B,intron_variant,,ENST00000264584,;LARP1B,intron_variant,,ENST00000326639,;LARP1B,intron_variant,,ENST00000394288,;LARP1B,intron_variant,,ENST00000354456,;LARP1B,intron_variant,,ENST00000507377,;LARP1B,intron_variant,,ENST00000508819,;	.	30	13	SUCCESS
PCDH10	57575	.	GRCh37	4	134084265	134084265	+	synonymous_variant	Silent	SNP	C	C	A	rs151224823	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	86	0	ENST00000264360.5:c.2931C>A	p.Gly977=	p.G977=	ENST00000264360	NM_032961.1	977	ggC/ggA	0	G:0.0009	G:0	.	G:0	.	A	G	protein_coding	YES	CCDS34063.1	2931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCATGGA	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0013	ENSP00000264360	G:0.002	4/5	.	.	.	.	.	.	.	.	rs151224823	4/5	PASS	ENST00000264360	Transcript	.	G:0.0006	ENSG00000138650	13404	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,synonymous_variant,p.%3D,ENST00000264360,;PCDH10,non_coding_transcript_exon_variant,,ENST00000511112,;	3757	86	82	SUCCESS
ELMOD2	255520	.	GRCh37	4	141448650	141448650	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	105	308	0	ENST00000323570.3:c.171+2T>C		p.X57_splice	ENST00000323570	NM_153702.3	57		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3752.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGTAGGAT	NONE	.	.	.	.	.	ENSP00000326342	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323570	Transcript	.	.	ENSG00000179387	28111	.	.	HIGH	3/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMD2_HUMAN	ELMOD2	HGNC	D6RJB5_HUMAN,D6RHX2_HUMAN,D6RBS5_HUMAN	.	UPI0000074163	SNV	ELMOD2,splice_donor_variant,,ENST00000502397,;ELMOD2,splice_donor_variant,,ENST00000513606,;ELMOD2,splice_donor_variant,,ENST00000323570,;ELMOD2,missense_variant,p.Val58Ala,ENST00000511887,;ELMOD2,downstream_gene_variant,,ENST00000507667,;ELMOD2,non_coding_transcript_exon_variant,,ENST00000503541,;	.	308	233	SUCCESS
INPP4B	8821	.	GRCh37	4	143007366	143007366	+	synonymous_variant	Silent	SNP	T	T	C	rs769799344	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	24	0	ENST00000262992.4:c.2418A>G	p.Leu806=	p.L806=	ENST00000262992	NM_001101669.1	806	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3757.1	2418	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTAGCAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	.	.	ENSP00000425487	.	25/27	.	.	.	.	.	.	.	.	rs769799344	25/27	PASS	ENST00000513000	Transcript	.	.	ENSG00000109452	6075	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	INP4B_HUMAN	INPP4B	HGNC	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN	.	UPI000013D37A	SNV	INPP4B,synonymous_variant,p.%3D,ENST00000511838,;INPP4B,synonymous_variant,p.%3D,ENST00000508116,;INPP4B,synonymous_variant,p.%3D,ENST00000509777,;INPP4B,synonymous_variant,p.%3D,ENST00000514525,;INPP4B,synonymous_variant,p.%3D,ENST00000262992,;INPP4B,synonymous_variant,p.%3D,ENST00000513000,;INPP4B,synonymous_variant,p.%3D,ENST00000308502,;INPP4B,synonymous_variant,p.%3D,ENST00000510812,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;	2852	24	26	SUCCESS
USP38	84640	.	GRCh37	4	144133531	144133531	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	61	0	ENST00000307017.4:c.1558A>T	p.Arg520Ter	p.R520*	ENST00000307017	NM_032557.5	520	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS3758.1	1558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGATCA	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF386,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000303434	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000307017	Transcript	.	.	ENSG00000170185	20067	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP38_HUMAN	USP38	HGNC	B3KSB9_HUMAN	.	UPI0000047AF9	SNV	USP38,stop_gained,p.Arg520Ter,ENST00000510377,;USP38,stop_gained,p.Arg520Ter,ENST00000307017,;USP38,3_prime_UTR_variant,,ENST00000511739,;	2064	61	65	SUCCESS
TTC29	83894	.	GRCh37	4	147860987	147860987	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	39	94	0	ENST00000325106.4:c.61A>T	p.Lys21Ter	p.K21*	ENST00000325106	NM_031956.2	21	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS47141.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTTCTGTC	NONE	.	.	hmmpanther:PTHR10098	.	.	ENSP00000316740	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000325106	Transcript	.	.	ENSG00000137473	29936	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC29_HUMAN	TTC29	HGNC	D6RJF6_HUMAN	.	UPI00001AE7CF	SNV	TTC29,stop_gained,p.Lys47Ter,ENST00000515315,;TTC29,stop_gained,p.Lys21Ter,ENST00000504425,;TTC29,stop_gained,p.Lys47Ter,ENST00000398886,;TTC29,stop_gained,p.Lys47Ter,ENST00000513335,;TTC29,stop_gained,p.Lys21Ter,ENST00000325106,;TTC29,stop_gained,p.Lys21Ter,ENST00000502319,;RP11-292D4.2,intron_variant,,ENST00000515530,;TTC29,stop_gained,p.Lys21Ter,ENST00000508306,;	288	94	75	SUCCESS
TIGD4	201798	.	GRCh37	4	153691590	153691590	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	44	148	0	ENST00000304337.2:c.567T>C	p.Tyr189=	p.Y189=	ENST00000304337	NM_145720.3	189	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS34079.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCGATAAAG	NONE	.	.	hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF204,Pfam_domain:PF03184	.	.	ENSP00000355162	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304337	Transcript	.	.	ENSG00000169989	18335	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIGD4_HUMAN	TIGD4	HGNC	.	.	UPI000013E966	SNV	TIGD4,synonymous_variant,p.%3D,ENST00000304337,;	1388	148	100	SUCCESS
FHDC1	85462	.	GRCh37	4	153897040	153897040	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	75	222	0	ENST00000260008.3:c.2597C>A	p.Ser866Tyr	p.S866Y	ENST00000260008	NM_033393.2	866	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS34081.1	2597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCCCTGA	NONE	.	.	hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213	.	.	ENSP00000427567	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000511601	Transcript	.	.	ENSG00000137460	29363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.659)	.	deleterious(0.03)	.	FHDC1_HUMAN	FHDC1	HGNC	.	.	UPI00001D7673	SNV	FHDC1,missense_variant,p.Ser866Tyr,ENST00000511601,;FHDC1,missense_variant,p.Ser866Tyr,ENST00000260008,;	2785	222	157	SUCCESS
C1QTNF7	114905	.	GRCh37	4	15444181	15444181	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140339349	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	89	0	ENST00000429690.1:c.628C>A	p.Leu210Met	p.L210M	ENST00000429690	NM_001135171.1	210	Ctg/Atg	0	A:0.0009	.	.	.	.	A	L/M	protein_coding	YES	CCDS47025.1	649	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGGACTGGTA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF15,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842	.	A:0	ENSP00000295297	.	3/3	.	.	.	.	.	.	.	.	rs140339349	3/3	PASS	ENST00000295297	Transcript	.	.	ENSG00000163145	14342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	C1QT7_HUMAN	C1QTNF7	HGNC	J3KPK0_HUMAN	.	UPI000004E7F9	SNV	C1QTNF7,missense_variant,p.Leu210Met,ENST00000444304,;C1QTNF7,missense_variant,p.Leu217Met,ENST00000295297,;C1QTNF7,missense_variant,p.Leu210Met,ENST00000429690,;C1QTNF7,downstream_gene_variant,,ENST00000397700,;C1QTNF7,downstream_gene_variant,,ENST00000382383,;	908	89	66	SUCCESS
GRIA2	2891	.	GRCh37	4	158262575	158262575	+	synonymous_variant	Silent	SNP	T	T	C	rs1180566271	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	79	0	ENST00000264426.9:c.2004T>C	p.Tyr668=	p.Y668=	ENST00000264426	NM_001083619.1	668	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS3797.1	2004	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTATGGAAC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000296526	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000296526	Transcript	.	.	ENSG00000120251	4572	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA2_HUMAN	GRIA2	HGNC	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN,A8MT92_HUMAN	.	UPI000002AA8D	SNV	GRIA2,synonymous_variant,p.%3D,ENST00000264426,;GRIA2,synonymous_variant,p.%3D,ENST00000507898,;GRIA2,synonymous_variant,p.%3D,ENST00000393815,;GRIA2,synonymous_variant,p.%3D,ENST00000296526,;GRIA2,synonymous_variant,p.%3D,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,synonymous_variant,p.%3D,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	2329	79	85	SUCCESS
CD38	952	.	GRCh37	4	15850179	15850179	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	60	0	ENST00000226279.3:c.857A>T	p.Gln286Leu	p.Q286L	ENST00000226279	NM_001775.2	286	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS3417.1	857	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAGTGTG	NONE	.	.	hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF5,Gene3D:3.40.50.720,Pfam_domain:PF02267,Superfamily_domains:SSF52309	.	.	ENSP00000226279	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000226279	Transcript	.	.	ENSG00000004468	1667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.552)	.	deleterious(0)	.	CD38_HUMAN	CD38	HGNC	Q4FCX6_HUMAN,B4DMR7_HUMAN	.	UPI00000739C2	SNV	CD38,missense_variant,p.Gln286Leu,ENST00000226279,;CD38,3_prime_UTR_variant,,ENST00000502843,;	994	60	45	SUCCESS
TMEM144	55314	.	GRCh37	4	159174638	159174638	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs890567883	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	52	0	ENST00000296529.6:c.997A>G	p.Ile333Val	p.I333V	ENST00000296529	NM_018342.4	333	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3799.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCATCTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR16119:SF12,hmmpanther:PTHR16119	.	.	ENSP00000296529	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000296529	Transcript	.	.	ENSG00000164124	25633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.76)	.	TM144_HUMAN	TMEM144	HGNC	D6RDN8_HUMAN,D6RDF9_HUMAN,D6RCA2_HUMAN,D6RAX5_HUMAN,D6R9U5_HUMAN,D6R9I0_HUMAN	.	UPI0000140BEC	SNV	TMEM144,missense_variant,p.Ile333Val,ENST00000296529,;TMEM144,non_coding_transcript_exon_variant,,ENST00000503404,;TMEM144,3_prime_UTR_variant,,ENST00000511532,;	1517	52	38	SUCCESS
PROM1	8842	.	GRCh37	4	16025970	16025970	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	rs368213921	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	29	68	0	ENST00000447510.2:c.642T>A	p.Tyr214Ter	p.Y214*	ENST00000447510	NM_006017.2	214	taT/taA	0	G:0.0003	.	.	.	.	T	Y/*	protein_coding	YES	CCDS47029.1	642	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATATATTT	NONE	byFrequency|byCluster	.	Pfam_domain:PF05478,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3	.	G:0	ENSP00000426809	.	7/28	.	.	.	.	.	.	.	.	rs368213921	7/28	PASS	ENST00000510224	Transcript	1	.	ENSG00000007062	9454	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROM1_HUMAN	PROM1	HGNC	D6RIF3_HUMAN,D6RBI0_HUMAN	.	UPI000004ECD6	SNV	PROM1,stop_gained,p.Tyr205Ter,ENST00000505450,;PROM1,stop_gained,p.Tyr214Ter,ENST00000510224,;PROM1,stop_gained,p.Tyr205Ter,ENST00000508167,;PROM1,stop_gained,p.Tyr205Ter,ENST00000543373,;PROM1,stop_gained,p.Tyr214Ter,ENST00000447510,;PROM1,stop_gained,p.Tyr214Ter,ENST00000539194,;PROM1,stop_gained,p.Tyr214Ter,ENST00000540805,;PROM1,non_coding_transcript_exon_variant,,ENST00000502943,;PROM1,3_prime_UTR_variant,,ENST00000511153,;	891	68	49	SUCCESS
FSTL5	56884	.	GRCh37	4	162954782	162954782	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	47	134	0	ENST00000306100.5:c.155T>A	p.Val52Asp	p.V52D	ENST00000306100	NM_001128427.2	52	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS3802.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGACTCTT	NONE	.	.	hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	.	.	ENSP00000305334	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated_low_confidence(0.23)	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,missense_variant,p.Val51Asp,ENST00000379164,;FSTL5,missense_variant,p.Val51Asp,ENST00000536695,;FSTL5,missense_variant,p.Val51Asp,ENST00000427802,;FSTL5,missense_variant,p.Val52Asp,ENST00000306100,;RP11-497K21.1,intron_variant,,ENST00000513093,;	592	134	99	SUCCESS
DDX60L	91351	.	GRCh37	4	169299546	169299546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	79	309	0	ENST00000260184.7:c.4444G>T	p.Ala1482Ser	p.A1482S	ENST00000260184	NM_001012967.1	1482	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47161.1	4444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCTGGAA	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF56	.	.	ENSP00000260184	.	33/38	.	.	.	.	.	.	.	.	.	33/38	PASS	ENST00000260184	Transcript	.	.	ENSG00000181381	26429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.196)	.	tolerated(0.08)	.	DDX6L_HUMAN	DDX60L	HGNC	D6RIU1_HUMAN,D6RBA2_HUMAN,D6RB62_HUMAN	.	UPI0001553B03	SNV	DDX60L,missense_variant,p.Ala1482Ser,ENST00000511577,;DDX60L,missense_variant,p.Ala1482Ser,ENST00000260184,;DDX60L,non_coding_transcript_exon_variant,,ENST00000510590,;	4665	309	235	SUCCESS
GALNTL6	442117	.	GRCh37	4	173730577	173730577	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs766485386	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	100	0	ENST00000506823.1:c.619A>G	p.Lys207Glu	p.K207E	ENST00000506823	NM_001034845.2	207	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS34104.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCAAGAAA	NONE	byFrequency	.	Superfamily_domains:SSF53448,Pfam_domain:PF00535,Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34	.	.	ENSP00000423313	.	6/13	.	.	.	.	.	.	.	.	rs766485386	6/13	PASS	ENST00000506823	Transcript	.	.	ENSG00000174473	33844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	tolerated(0.31)	.	GLTL6_HUMAN	GALNTL6	HGNC	E5D8G0_HUMAN	.	UPI000058EB5C	SNV	GALNTL6,missense_variant,p.Lys190Glu,ENST00000508122,;GALNTL6,missense_variant,p.Lys207Glu,ENST00000506823,;	1276	100	83	SUCCESS
GLRA3	8001	.	GRCh37	4	175565106	175565106	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1184281780	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	46	134	0	ENST00000274093.3:c.1226T>A	p.Val409Glu	p.V409E	ENST00000274093	NM_006529.2	409	gTa/gAa	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS3822.1	1226	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTACCTGG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF455,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01676	.	.	ENSP00000274093	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000274093	Transcript	.	.	ENSG00000145451	4328	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.63)	.	GLRA3_HUMAN	GLRA3	HGNC	Q9UPF3_HUMAN,Q4W595_HUMAN	.	UPI0000001C50	SNV	GLRA3,missense_variant,p.Val409Glu,ENST00000274093,;GLRA3,missense_variant,p.Val394Glu,ENST00000340217,;	1729	134	104	SUCCESS
ADAM29	11086	.	GRCh37	4	175897487	175897487	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	46	144	0	ENST00000359240.3:c.811A>C	p.Lys271Gln	p.K271Q	ENST00000359240	NM_014269.4	271	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS3823.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCAAGTGG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.038)	.	tolerated(0.49)	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Lys271Gln,ENST00000514159,;ADAM29,missense_variant,p.Lys271Gln,ENST00000445694,;ADAM29,missense_variant,p.Lys271Gln,ENST00000404450,;ADAM29,missense_variant,p.Lys271Gln,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	1481	144	110	SUCCESS
ADAM29	11086	.	GRCh37	4	175897603	175897603	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	51	229	0	ENST00000359240.3:c.927A>T	p.Pro309=	p.P309=	ENST00000359240	NM_014269.4	309	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3823.1	927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCACACCG	NONE	.	.	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,synonymous_variant,p.%3D,ENST00000514159,;ADAM29,synonymous_variant,p.%3D,ENST00000445694,;ADAM29,synonymous_variant,p.%3D,ENST00000404450,;ADAM29,synonymous_variant,p.%3D,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	1597	229	142	SUCCESS
ADAM29	11086	.	GRCh37	4	175899050	175899050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	26	167	0	ENST00000359240.3:c.2374C>A	p.Pro792Thr	p.P792T	ENST00000359240	NM_014269.4	792	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3823.1	2374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGCCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	.	.	ENSP00000352177	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359240	Transcript	.	.	ENSG00000168594	207	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.09)	.	ADA29_HUMAN	ADAM29	HGNC	D6RHU0_HUMAN,D6RBU0_HUMAN	.	UPI000013E9DE	SNV	ADAM29,missense_variant,p.Pro792Thr,ENST00000514159,;ADAM29,missense_variant,p.Pro792Thr,ENST00000445694,;ADAM29,missense_variant,p.Pro792Thr,ENST00000404450,;ADAM29,missense_variant,p.Pro792Thr,ENST00000359240,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,intron_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	3044	167	98	SUCCESS
WDR17	116966	.	GRCh37	4	177098697	177098697	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	46	113	0	ENST00000280190.4:c.3741A>G	p.Leu1247=	p.L1247=	ENST00000280190		1247	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3825.1	3741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTAAAAGA	NONE	.	.	.	.	.	ENSP00000280190	.	30/31	.	.	.	.	.	.	.	.	.	30/31	PASS	ENST00000280190	Transcript	.	.	ENSG00000150627	16661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR17_HUMAN	WDR17	HGNC	Q0QD35_HUMAN,E7EP77_HUMAN	.	UPI000019C575	SNV	WDR17,synonymous_variant,p.%3D,ENST00000507824,;WDR17,synonymous_variant,p.%3D,ENST00000280190,;WDR17,synonymous_variant,p.%3D,ENST00000508596,;WDR17,synonymous_variant,p.%3D,ENST00000443118,;WDR17,synonymous_variant,p.%3D,ENST00000393643,;WDR17,downstream_gene_variant,,ENST00000508773,;	3897	113	91	SUCCESS
VEGFC	7424	.	GRCh37	4	177608644	177608644	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	37	0	ENST00000280193.2:c.842G>A	p.Gly281Glu	p.G281E	ENST00000280193	NM_005429.3	281	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS43285.1	842	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTCCACAG	NONE	.	.	hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3	.	.	ENSP00000280193	.	6/7	.	.	.	.	.	.	.	.	COSM586631	6/7	PASS	ENST00000280193	Transcript	1	.	ENSG00000150630	12682	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	VEGFC_HUMAN	VEGFC	HGNC	.	.	UPI000020B749	SNV	VEGFC,missense_variant,p.Gly281Glu,ENST00000280193,;RP11-313E19.2,intron_variant,,ENST00000509194,;RP11-313E19.2,intron_variant,,ENST00000504017,;VEGFC,downstream_gene_variant,,ENST00000507638,;	1258	37	43	SUCCESS
NCAPG	64151	.	GRCh37	4	17814020	17814020	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs773384582	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	64	0	ENST00000251496.2:c.288A>C	p.Leu96Phe	p.L96F	ENST00000251496	NM_022346.4	96	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS3424.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTAAATTA	NONE	byFrequency	.	Superfamily_domains:SSF48371,hmmpanther:PTHR14418,hmmpanther:PTHR14418:SF5	.	.	ENSP00000251496	.	2/21	.	.	.	.	.	.	.	.	rs773384582	2/21	PASS	ENST00000251496	Transcript	.	.	ENSG00000109805	24304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	deleterious(0.01)	.	CND3_HUMAN	NCAPG	HGNC	.	.	UPI0000073296	SNV	NCAPG,missense_variant,p.Leu96Phe,ENST00000251496,;DCAF16,upstream_gene_variant,,ENST00000382247,;DCAF16,upstream_gene_variant,,ENST00000536863,;DCAF16,upstream_gene_variant,,ENST00000507768,;DCAF16,upstream_gene_variant,,ENST00000507731,;NCAPG,missense_variant,p.Leu96Phe,ENST00000514176,;NCAPG,non_coding_transcript_exon_variant,,ENST00000513226,;NCAPG,upstream_gene_variant,,ENST00000509719,;	464	64	43	SUCCESS
TENM3	55714	.	GRCh37	4	183549876	183549876	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	67	243	0	ENST00000511685.1:c.822A>T	p.Ala274=	p.A274=	ENST00000511685		274	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47165.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCATCTGG	NONE	.	.	PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Pfam_domain:PF06484	.	.	ENSP00000424226	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,synonymous_variant,p.%3D,ENST00000511685,;TENM3,synonymous_variant,p.%3D,ENST00000406950,;TENM3,synonymous_variant,p.%3D,ENST00000510504,;RN7SKP67,downstream_gene_variant,,ENST00000515905,;	945	243	94	SUCCESS
FAT1	2195	.	GRCh37	4	187538294	187538294	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	33	119	0	ENST00000441802.2:c.8940G>A	p.Val2980=	p.V2980=	ENST00000441802	NM_005245.3	2980	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS47177.1	8940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCACATA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	11/27	.	.	.	.	.	.	.	.	.	11/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,synonymous_variant,p.%3D,ENST00000441802,;	9150	119	45	SUCCESS
FAT1	2195	.	GRCh37	4	187539226	187539226	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	28	81	0	ENST00000441802.2:c.8514A>T	p.Ser2838=	p.S2838=	ENST00000441802	NM_005245.3	2838	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47177.1	8514	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTGAGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000406229	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000441802	Transcript	.	.	ENSG00000083857	3595	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAT1_HUMAN	FAT1	HGNC	D6RCE4_HUMAN	.	UPI000051946B	SNV	FAT1,synonymous_variant,p.%3D,ENST00000441802,;	8724	81	46	SUCCESS
SLIT2	9353	.	GRCh37	4	20591288	20591288	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	88	0	ENST00000504154.1:c.3110T>A	p.Leu1037Gln	p.L1037Q	ENST00000504154	NM_004787.1	1037	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS3426.1	3110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTGGACT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:2gy5A03,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000422591	.	30/37	.	.	.	.	.	.	.	.	COSM1744409	30/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.01)	1	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,missense_variant,p.Leu1050Gln,ENST00000273739,;SLIT2,missense_variant,p.Leu1037Gln,ENST00000504154,;SLIT2,missense_variant,p.Leu1029Gln,ENST00000503823,;SLIT2,missense_variant,p.Leu1033Gln,ENST00000503837,;	3362	88	76	SUCCESS
PPARGC1A	10891	.	GRCh37	4	23886237	23886237	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	15	0	ENST00000264867.2:c.234+138T>G		p.*78*	ENST00000264867	NM_013261.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3429.1	.	RADIA|MUTECT|MUSE	.	AAATTAGAAAG	NONE	.	.	.	.	.	ENSP00000264867	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264867	Transcript	1	.	ENSG00000109819	9237	.	.	MODIFIER	2/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRGC1_HUMAN	PPARGC1A	HGNC	G8DM16_HUMAN	.	UPI000004D072	SNV	PPARGC1A,3_prime_UTR_variant,,ENST00000507380,;PPARGC1A,intron_variant,,ENST00000264867,;PPARGC1A,intron_variant,,ENST00000503714,;PPARGC1A,intron_variant,,ENST00000515534,;PPARGC1A,intron_variant,,ENST00000507342,;PPARGC1A,upstream_gene_variant,,ENST00000509642,;PPARGC1A,upstream_gene_variant,,ENST00000512169,;PPARGC1A,upstream_gene_variant,,ENST00000514517,;PPARGC1A,upstream_gene_variant,,ENST00000508380,;PPARGC1A,upstream_gene_variant,,ENST00000509702,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000514494,;PPARGC1A,intron_variant,,ENST00000513205,;PPARGC1A,intron_variant,,ENST00000506055,;PPARGC1A,upstream_gene_variant,,ENST00000505469,;	.	15	12	SUCCESS
PCDH7	5099	.	GRCh37	4	30724512	30724512	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	51	0	ENST00000361762.2:c.1468T>C	p.Ser490Pro	p.S490P	ENST00000361762	NM_002589.2	490	Tcg/Ccg	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS54753.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTCGACC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	deleterious(0)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Ser180Pro,ENST00000511884,;PCDH7,missense_variant,p.Ser490Pro,ENST00000543491,;PCDH7,missense_variant,p.Ser490Pro,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000507864,;	1468	51	41	SUCCESS
HTT	3064	.	GRCh37	4	3189596	3189596	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	48	0	ENST00000355072.5:c.5208A>T	p.Pro1736=	p.P1736=	ENST00000355072	NM_002111.6	1736	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43206.1	5208	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCAGAAGA	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	39/67	.	.	.	.	.	.	.	.	.	39/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,synonymous_variant,p.%3D,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	5353	48	17	SUCCESS
HGFAC	3083	.	GRCh37	4	3447852	3447852	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	38	117	0	ENST00000382774.3:c.1186A>T	p.Arg396Trp	p.R396W	ENST00000382774	NM_001528.2	396	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS3369.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCAGGAGG	NONE	.	.	hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF11,PIRSF_domain:PIRSF001146,Superfamily_domains:SSF50494	.	.	ENSP00000372224	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000382774	Transcript	.	.	ENSG00000109758	4894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.45)	.	deleterious(0)	.	HGFA_HUMAN	HGFAC	HGNC	.	.	UPI0000000826	SNV	HGFAC,missense_variant,p.Arg396Trp,ENST00000382774,;HGFAC,missense_variant,p.Arg403Trp,ENST00000511533,;HGFAC,non_coding_transcript_exon_variant,,ENST00000506132,;HGFAC,non_coding_transcript_exon_variant,,ENST00000509689,;	1301	117	77	SUCCESS
PGM2	55276	.	GRCh37	4	37836307	37836307	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1298555562	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	164	391	0	ENST00000381967.4:c.317A>G	p.Asp106Gly	p.D106G	ENST00000381967	NM_018290.3	106	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3443.1	317	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGACGCCC	NONE	.	.	hmmpanther:PTHR22573:SF43,hmmpanther:PTHR22573,Pfam_domain:PF02878,Gene3D:3.40.120.10,Superfamily_domains:SSF53738	.	.	ENSP00000371393	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000381967	Transcript	.	.	ENSG00000169299	8906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PGM2_HUMAN	PGM2	HGNC	Q4W5D6_HUMAN,F5H6V2_HUMAN	.	UPI000004A02B	SNV	PGM2,missense_variant,p.Asp106Gly,ENST00000381967,;PGM2,5_prime_UTR_variant,,ENST00000544359,;PGM2,intron_variant,,ENST00000537241,;PGM2,missense_variant,p.Asp106Gly,ENST00000505986,;PGM2,missense_variant,p.Asp106Gly,ENST00000515668,;PGM2,intron_variant,,ENST00000512556,;	417	391	347	SUCCESS
TLR10	81793	.	GRCh37	4	38774823	38774823	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	74	0	ENST00000308973.4:c.2389G>C	p.Glu797Gln	p.E797Q	ENST00000308973	NM_030956.3	797	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS3445.1	2389	RADIA|MUTECT|MUSE	.	AGACTCTTCAT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF131	.	.	ENSP00000308925	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000308973	Transcript	.	.	ENSG00000174123	15634	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.19)	.	TLR10_HUMAN	TLR10	HGNC	D6RHW6_HUMAN	.	UPI0000048F1C	SNV	TLR10,missense_variant,p.Glu797Gln,ENST00000508334,;TLR10,missense_variant,p.Glu797Gln,ENST00000361424,;TLR10,missense_variant,p.Glu797Gln,ENST00000308973,;TLR10,missense_variant,p.Glu797Gln,ENST00000506111,;TLR10,downstream_gene_variant,,ENST00000502321,;TLR10,downstream_gene_variant,,ENST00000507953,;	2995	74	70	SUCCESS
OTOP1	133060	.	GRCh37	4	4199319	4199319	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	63	0	ENST00000296358.4:c.1242T>A	p.Cys414Ter	p.C414*	ENST00000296358	NM_177998.1	414	tgT/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS3372.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCACAGAG	NONE	.	.	hmmpanther:PTHR21522:SF19,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000296358	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000296358	Transcript	.	.	ENSG00000163982	19656	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTOP1_HUMAN	OTOP1	HGNC	.	.	UPI0000186945	SNV	OTOP1,stop_gained,p.Cys414Ter,ENST00000296358,;	1267	63	51	SUCCESS
SHISA3	152573	.	GRCh37	4	42403330	42403330	+	synonymous_variant	Silent	SNP	C	C	A	rs377514630	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	53	0	ENST00000319234.4:c.579C>A	p.Pro193=	p.P193=	ENST00000319234	NM_001080505.1	193	ccC/ccA	0	T:0	.	.	.	.	A	P	protein_coding	YES	CCDS33979.1	579	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCCCGCC	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31395:SF4,hmmpanther:PTHR31395,Pfam_domain:PF13908	.	T:0.0002	ENSP00000326445	.	2/2	.	.	.	.	.	.	.	.	rs377514630	2/2	PASS	ENST00000319234	Transcript	.	.	ENSG00000178343	25159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHSA3_HUMAN	SHISA3	HGNC	.	.	UPI000020BC30	SNV	SHISA3,synonymous_variant,p.%3D,ENST00000319234,;	797	53	60	SUCCESS
ATP8A1	10396	.	GRCh37	4	42446619	42446619	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	88	0	ENST00000381668.5:c.2991A>G	p.Gly997=	p.G997=	ENST00000381668	NM_006095.2	997	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS3466.1	2991	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAATCCAGC	BUFFER|p.K995E|c.2983A>G|3,BUFFER|p.K980E|c.2938A>G|3,BUFFER|p.L994F|c.2982G>T|3,BUFFER|p.L979F|c.2937G>T|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	.	.	ENSP00000371084	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000381668	Transcript	.	.	ENSG00000124406	13531	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT8A1_HUMAN	ATP8A1	HGNC	H0YAJ4_HUMAN	.	UPI0000125063	SNV	ATP8A1,synonymous_variant,p.%3D,ENST00000381668,;ATP8A1,synonymous_variant,p.%3D,ENST00000264449,;AC084010.1,upstream_gene_variant,,ENST00000582816,;ATP8A1,3_prime_UTR_variant,,ENST00000506602,;ATP8A1,3_prime_UTR_variant,,ENST00000514372,;	3223	88	51	SUCCESS
GRXCR1	389207	.	GRCh37	4	43022411	43022411	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1171186208	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	78	254	0	ENST00000399770.2:c.668T>A	p.Leu223Gln	p.L223Q	ENST00000399770	NM_001080476.2	223	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS43225.1	668	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACTGCAAG	NONE	.	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000382670	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Leu223Gln,ENST00000399770,;	668	254	194	SUCCESS
ZBTB49	166793	.	GRCh37	4	4304686	4304686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	175	0	ENST00000337872.4:c.1123A>G	p.Arg375Gly	p.R375G	ENST00000337872	NM_145291.3	375	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS3375.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGAGGCCT	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF104,Gene3D:2.30.30.20	.	.	ENSP00000338807	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000337872	Transcript	.	.	ENSG00000168826	19883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.26)	.	ZBT49_HUMAN	ZBTB49	HGNC	Q32MK9_HUMAN,D6RJ00_HUMAN	.	UPI000022C559	SNV	ZBTB49,missense_variant,p.Arg375Gly,ENST00000355834,;ZBTB49,missense_variant,p.Arg375Gly,ENST00000337872,;ZBTB49,missense_variant,p.Arg112Gly,ENST00000504302,;ZBTB49,5_prime_UTR_variant,,ENST00000538529,;ZBTB49,downstream_gene_variant,,ENST00000502918,;ZBTB49,missense_variant,p.Arg375Gly,ENST00000515012,;ZBTB49,missense_variant,p.Arg77Gly,ENST00000511458,;ZBTB49,3_prime_UTR_variant,,ENST00000503703,;	1244	175	131	SUCCESS
ZNF721	170960	.	GRCh37	4	436177	436177	+	synonymous_variant	Silent	SNP	T	T	C	rs782373214	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	113	0	ENST00000338977.5:c.2043A>G	p.Gly681=	p.G681=	ENST00000338977		681	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS46991.1	2079	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTCCAGT	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000428878	.	3/3	.	.	.	.	.	.	.	.	rs782373214	3/3	PASS	ENST00000511833	Transcript	.	.	ENSG00000182903	29425	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN721_HUMAN	ZNF721	HGNC	.	.	UPI0000E9B4A9	SNV	ZNF721,synonymous_variant,p.%3D,ENST00000338977,;ZNF721,synonymous_variant,p.%3D,ENST00000511833,;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000514396,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ZNF721,intron_variant,,ENST00000515578,;	2273	113	87	SUCCESS
GABRG1	2565	.	GRCh37	4	46066495	46066495	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	125	374	0	ENST00000295452.4:c.588C>A	p.Pro196=	p.P196=	ENST00000295452	NM_173536.3	196	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS3470.1	588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATGGGAAA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,PROSITE_patterns:PS00236,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252	.	.	ENSP00000295452	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,synonymous_variant,p.%3D,ENST00000295452,;	756	374	304	SUCCESS
GABRG1	2565	.	GRCh37	4	46099287	46099287	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	60	188	0	ENST00000295452.4:c.184G>T	p.Gly62Ter	p.G62*	ENST00000295452	NM_173536.3	62	Gga/Tga	0	.	.	.	.	.	A	G/*	protein_coding	YES	CCDS3470.1	184	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCCTTCAT	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Prints_domain:PR01620	.	.	ENSP00000295452	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,stop_gained,p.Gly62Ter,ENST00000295452,;	352	188	115	SUCCESS
SGCB	6443	.	GRCh37	4	52890300	52890300	+	synonymous_variant	Silent	SNP	A	A	C	rs752920764	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	77	0	ENST00000381431.5:c.780T>G	p.Ser260=	p.S260=	ENST00000381431	NM_000232.4	260	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS3488.1	780	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAGATCC	NONE	.	.	hmmpanther:PTHR21142,Pfam_domain:PF04790	.	.	ENSP00000370839	.	6/6	.	.	.	.	.	.	.	.	rs752920764	6/6	PASS	ENST00000381431	Transcript	1	.	ENSG00000163069	10806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGCB_HUMAN	SGCB	HGNC	Q5U0N0_HUMAN	.	UPI000013590B	SNV	SGCB,synonymous_variant,p.%3D,ENST00000381431,;SGCB,synonymous_variant,p.%3D,ENST00000535450,;SGCB,downstream_gene_variant,,ENST00000514133,;SGCB,downstream_gene_variant,,ENST00000506357,;	1003	77	78	SUCCESS
SCFD2	152579	.	GRCh37	4	53786893	53786893	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	53	0	ENST00000401642.3:c.1706A>T	p.Gln569Leu	p.Q569L	ENST00000401642	NM_152540.3	569	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS33984.1	1706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCTGGTGG	NONE	.	.	hmmpanther:PTHR11679:SF29,hmmpanther:PTHR11679,Pfam_domain:PF00995,Superfamily_domains:SSF56815	.	.	ENSP00000384182	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000401642	Transcript	.	.	ENSG00000184178	30676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	SCFD2_HUMAN	SCFD2	HGNC	D6RCK6_HUMAN	.	UPI000006FB05	SNV	SCFD2,missense_variant,p.Gln569Leu,ENST00000388940,;SCFD2,missense_variant,p.Gln569Leu,ENST00000401642,;	1840	53	39	SUCCESS
SCFD2	152579	.	GRCh37	4	54140025	54140025	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	99	0	ENST00000401642.3:c.1279A>T	p.Asn427Tyr	p.N427Y	ENST00000401642	NM_152540.3	427	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS33984.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTTGTCCC	NONE	.	.	hmmpanther:PTHR11679:SF29,hmmpanther:PTHR11679,Superfamily_domains:SSF56815	.	.	ENSP00000384182	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000401642	Transcript	.	.	ENSG00000184178	30676	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.863)	.	deleterious(0.01)	.	SCFD2_HUMAN	SCFD2	HGNC	D6RCK6_HUMAN	.	UPI000006FB05	SNV	SCFD2,missense_variant,p.Asn427Tyr,ENST00000388940,;SCFD2,missense_variant,p.Asn427Tyr,ENST00000401642,;	1413	99	84	SUCCESS
PDGFRA	5156	.	GRCh37	4	55138653	55138653	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs745702167	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	25	76	0	ENST00000257290.5:c.1330G>C	p.Asp444His	p.D444H	ENST00000257290	NM_006206.4	444	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS3495.1	1330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGATATT	NONE	byFrequency	.	hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	.	.	ENSP00000257290	.	9/23	.	.	.	.	.	.	.	.	rs745702167,COSM3946436	9/23	PASS	ENST00000257290	Transcript	1	.	ENSG00000134853	8803	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.176)	.	tolerated(0.26)	0,1	PGFRA_HUMAN	PDGFRA	HGNC	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN	.	UPI0000131793	SNV	PDGFRA,missense_variant,p.Asp444His,ENST00000257290,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.Asp444His,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000461294,;PDGFRA,upstream_gene_variant,,ENST00000507536,;	1661	76	50	SUCCESS
KDR	3791	.	GRCh37	4	55971025	55971025	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	92	1	ENST00000263923.4:c.1772T>G	p.Leu591Arg	p.L591R	ENST00000263923	NM_002253.2	591	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS3497.1	1772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCAGAGGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000263923	.	13/30	.	.	.	.	.	.	.	.	.	13/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.18)	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,missense_variant,p.Leu591Arg,ENST00000263923,;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	2068	93	86	SUCCESS
KDR	3791	.	GRCh37	4	55984967	55984967	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	56	115	0	ENST00000263923.4:c.162G>A		p.X54_splice	ENST00000263923	NM_002253.2	54	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3497.1	162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCCTGAA	NONE	.	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Gene3D:2.60.40.10,SMART_domains:SM00409	.	.	ENSP00000263923	.	3/30	.	.	.	.	.	.	.	.	COSM3604572	3/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,synonymous_variant,p.%3D,ENST00000263923,;KDR,splice_region_variant,,ENST00000512566,;	458	115	110	SUCCESS
LPHN3	0	.	GRCh37	4	62758609	62758609	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	97	0	ENST00000514591.1:c.1512A>T	p.Arg504=	p.R504=	ENST00000514591		504	cgA/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54768.1	1512	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGAGAAAT	NONE	.	.	PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02793,SMART_domains:SM00008	.	.	ENSP00000422533	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000514591	Transcript	.	.	ENSG00000150471	20974	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LPHN3	HGNC	Q4W5J9_HUMAN,E9PE04_HUMAN	.	UPI00016278EF	SNV	LPHN3,synonymous_variant,p.%3D,ENST00000507625,;LPHN3,synonymous_variant,p.%3D,ENST00000508946,;LPHN3,synonymous_variant,p.%3D,ENST00000506700,;LPHN3,synonymous_variant,p.%3D,ENST00000509896,;LPHN3,synonymous_variant,p.%3D,ENST00000511324,;LPHN3,synonymous_variant,p.%3D,ENST00000545650,;LPHN3,synonymous_variant,p.%3D,ENST00000506720,;LPHN3,synonymous_variant,p.%3D,ENST00000504896,;LPHN3,synonymous_variant,p.%3D,ENST00000514591,;LPHN3,synonymous_variant,p.%3D,ENST00000508693,;LPHN3,synonymous_variant,p.%3D,ENST00000506746,;LPHN3,synonymous_variant,p.%3D,ENST00000514996,;LPHN3,synonymous_variant,p.%3D,ENST00000512091,;LPHN3,synonymous_variant,p.%3D,ENST00000514157,;LPHN3,synonymous_variant,p.%3D,ENST00000507164,;LPHN3,upstream_gene_variant,,ENST00000502815,;	1841	97	56	SUCCESS
PDE6B	5158	.	GRCh37	4	656968	656968	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	119	0	ENST00000496514.1:c.1912T>A	p.Ser638Thr	p.S638T	ENST00000496514		638	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS33932.1	1912	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCTCGGAG	NONE	.	.	Prints_domain:PR00387,Superfamily_domains:SSF109604,SMART_domains:SM00471,Pfam_domain:PF00233,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	.	.	ENSP00000420295	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.31)	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	SNV	PDE6B,missense_variant,p.Ser359Thr,ENST00000429163,;PDE6B,missense_variant,p.Ser638Thr,ENST00000496514,;PDE6B,missense_variant,p.Ser638Thr,ENST00000255622,;PDE6B,upstream_gene_variant,,ENST00000471824,;PDE6B,upstream_gene_variant,,ENST00000461490,;RP11-1191J2.5,upstream_gene_variant,,ENST00000609172,;PDE6B,upstream_gene_variant,,ENST00000460119,;	1933	119	81	SUCCESS
UBA6	55236	.	GRCh37	4	68506897	68506897	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	41	86	0	ENST00000322244.5:c.1526A>G	p.Gln509Arg	p.Q509R	ENST00000322244	NM_018227.5	509	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3516.1	1526	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACTGTCTA	NONE	.	.	hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572,Prints_domain:PR01849	.	.	ENSP00000313454	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000322244	Transcript	.	.	ENSG00000033178	25581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	UBA6_HUMAN	UBA6	HGNC	B3KSS1_HUMAN	.	UPI000004A4F7	SNV	UBA6,missense_variant,p.Gln43Arg,ENST00000505673,;UBA6,missense_variant,p.Gln509Arg,ENST00000322244,;RP11-17P16.2,downstream_gene_variant,,ENST00000604441,;	1586	86	76	SUCCESS
TMPRSS11A	339967	.	GRCh37	4	68789885	68789885	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	rs1357796912	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	85	0	ENST00000334830.7:c.491-1G>T		p.X164_splice	ENST00000334830		164		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3519.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCTGAAA	NONE	.	.	.	.	.	ENSP00000334611	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334830	Transcript	.	.	ENSG00000187054	27954	.	.	HIGH	5/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM11A_HUMAN	TMPRSS11A	HGNC	.	.	UPI0000457217	SNV	TMPRSS11A,splice_acceptor_variant,,ENST00000508048,;TMPRSS11A,splice_acceptor_variant,,ENST00000334830,;TMPRSS11A,splice_acceptor_variant,,ENST00000396188,;TMPRSS11A,intron_variant,,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	.	85	50	SUCCESS
CSN3	1448	.	GRCh37	4	71113535	71113535	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs552991081	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	78	291	0	ENST00000304954.3:c.55G>T	p.Ala19Ser	p.A19S	ENST00000304954	NM_005212.2	19	Gct/Tct	0	.	A:0.0023	.	A:0	.	T	A/S	protein_coding	YES	CCDS3538.1	55	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCTGTG	NONE	byFrequency|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11470:SF2,hmmpanther:PTHR11470,PIRSF_domain:PIRSF002374	A:0	.	ENSP00000304822	A:0	3/5	.	.	.	.	.	.	.	.	rs552991081	3/5	PASS	ENST00000304954	Transcript	.	A:0.0006	ENSG00000171209	2446	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	A:0	tolerated(0.07)	.	CASK_HUMAN	CSN3	HGNC	.	.	UPI000004F262	SNV	CSN3,missense_variant,p.Ala19Ser,ENST00000304954,;	141	292	257	SUCCESS
RUFY3	22902	.	GRCh37	4	71629350	71629350	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	149	366	0	ENST00000226328.4:c.434A>T	p.Glu145Val	p.E145V	ENST00000226328	NM_014961.3	145	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS34001.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGAGATAA	NONE	.	.	PROSITE_profiles:PS50826,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF37,Pfam_domain:PF02759,Superfamily_domains:0052343	.	.	ENSP00000370394	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000381006	Transcript	.	.	ENSG00000018189	30285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	deleterious(0)	.	RUFY3_HUMAN	RUFY3	HGNC	D6REM9_HUMAN,D6RCQ1_HUMAN	.	UPI00005FB126	SNV	RUFY3,missense_variant,p.Glu205Val,ENST00000417478,;RUFY3,missense_variant,p.Glu92Val,ENST00000502653,;RUFY3,missense_variant,p.Glu81Val,ENST00000503876,;RUFY3,missense_variant,p.Glu81Val,ENST00000513597,;RUFY3,missense_variant,p.Glu129Val,ENST00000536664,;RUFY3,missense_variant,p.Glu145Val,ENST00000226328,;RUFY3,missense_variant,p.Glu145Val,ENST00000381006,;	1013	366	295	SUCCESS
NPFFR2	10886	.	GRCh37	4	72994372	72994372	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	35	78	0	ENST00000308744.6:c.370A>T	p.Thr124Ser	p.T124S	ENST00000308744	NM_004885.2	124	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS3551.1	370	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACACAAAG	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF3,Superfamily_domains:SSF81321,Prints_domain:PR01572	.	.	ENSP00000307822	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000308744	Transcript	.	.	ENSG00000056291	4525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.376)	.	tolerated(0.23)	.	NPFF2_HUMAN	NPFFR2	HGNC	A0PJM9_HUMAN	.	UPI000012FFBD	SNV	NPFFR2,missense_variant,p.Thr124Ser,ENST00000308744,;NPFFR2,missense_variant,p.Thr22Ser,ENST00000358749,;NPFFR2,missense_variant,p.Thr25Ser,ENST00000395999,;NPFFR2,intron_variant,,ENST00000344413,;	468	78	75	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73414452	73414452	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	123	0	ENST00000286657.4:c.247A>G	p.Asn83Asp	p.N83D	ENST00000286657	NM_014243.2	83	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS3553.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTTAAAGA	NONE	.	.	hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Pfam_domain:PF01562	.	.	ENSP00000286657	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,missense_variant,p.Asn83Asp,ENST00000286657,;ADAMTS3,non_coding_transcript_exon_variant,,ENST00000505193,;	284	123	85	SUCCESS
CXCL1	2919	.	GRCh37	4	74735406	74735406	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	50	146	0	ENST00000395761.3:c.121C>A	p.Leu41Met	p.L41M	ENST00000395761	NM_001511.3	41	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS47074.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAACTGCGC	NONE	.	.	hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF36,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00436	.	.	ENSP00000379110	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000395761	Transcript	.	.	ENSG00000163739	4602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	GROA_HUMAN	CXCL1	HGNC	Q6LD34_HUMAN	.	UPI0000047AA6	SNV	CXCL1,missense_variant,p.Leu41Met,ENST00000395761,;CXCL1,non_coding_transcript_exon_variant,,ENST00000509101,;	188	146	124	SUCCESS
PF4	5196	.	GRCh37	4	74847688	74847688	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	72	0	ENST00000296029.3:c.-18T>A		p.*6*	ENST00000296029	NM_002619.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3562.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGCAGG	NONE	.	.	.	.	.	ENSP00000296029	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000296029	Transcript	.	.	ENSG00000163737	8861	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLF4_HUMAN	PF4	HGNC	.	.	UPI000002E1F5	SNV	PF4,5_prime_UTR_variant,,ENST00000296029,;	154	72	71	SUCCESS
C4orf26	0	.	GRCh37	4	76489571	76489571	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs767321689	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	71	257	0	ENST00000435974.2:c.359T>G	p.Ile120Ser	p.I120S	ENST00000435974	NM_001206981.1	120	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS56334.1	359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATTGGCC	NONE	.	.	.	.	.	ENSP00000406925	.	3/3	.	.	.	.	.	.	.	.	rs767321689	3/3	PASS	ENST00000435974	Transcript	1	.	ENSG00000174792	26300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.402)	.	deleterious_low_confidence(0.03)	.	CD026_HUMAN	C4orf26	HGNC	.	.	UPI0001AE74FF	SNV	C4orf26,stop_gained,p.Tyr105Ter,ENST00000311623,;C4orf26,missense_variant,p.Ile120Ser,ENST00000435974,;C4orf26,downstream_gene_variant,,ENST00000514064,;C4orf26,intron_variant,,ENST00000511093,;	377	257	190	SUCCESS
SORCS2	57537	.	GRCh37	4	7730109	7730109	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	68	0	ENST00000507866.2:c.2902A>G	p.Lys968Glu	p.K968E	ENST00000507866	NM_020777.2	968	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS47008.1	2902	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAAGGAG	NONE	.	.	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9	.	.	ENSP00000422185	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000507866	Transcript	.	.	ENSG00000184985	16698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	SORC2_HUMAN	SORCS2	HGNC	.	.	UPI0000EE6E4F	SNV	SORCS2,missense_variant,p.Lys796Glu,ENST00000329016,;SORCS2,missense_variant,p.Lys968Glu,ENST00000507866,;	3011	68	42	SUCCESS
FRAS1	80144	.	GRCh37	4	79229364	79229364	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	108	0	ENST00000264895.6:c.1678+1G>T		p.X560_splice	ENST00000264895	NM_025074.6	560		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54771.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCGGTGAGT	NONE	.	.	.	.	.	ENSP00000264895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	HIGH	15/73	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,splice_donor_variant,,ENST00000502446,;FRAS1,splice_donor_variant,,ENST00000325942,;FRAS1,splice_donor_variant,,ENST00000264899,;FRAS1,splice_donor_variant,,ENST00000264895,;FRAS1,splice_donor_variant,,ENST00000508900,;	.	108	68	SUCCESS
FRAS1	80144	.	GRCh37	4	79285157	79285157	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	92	0	ENST00000264895.6:c.2671A>T	p.Ser891Cys	p.S891C	ENST00000264895	NM_025074.6	891	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS54771.1	2671	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGCACC	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184	.	.	ENSP00000264895	.	22/74	.	.	.	.	.	.	.	.	.	22/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.572)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Ser891Cys,ENST00000325942,;FRAS1,missense_variant,p.Ser891Cys,ENST00000264895,;	3111	92	71	SUCCESS
FRAS1	80144	.	GRCh37	4	79393452	79393452	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	134	1	ENST00000264895.6:c.7490A>T	p.Gln2497Leu	p.Q2497L	ENST00000264895	NM_025074.6	2497	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS54771.1	7490	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGCCTG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	52/74	.	.	.	.	.	.	.	.	.	52/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Gln726Leu,ENST00000512123,;FRAS1,missense_variant,p.Gln2497Leu,ENST00000264895,;	7930	135	103	SUCCESS
FRAS1	80144	.	GRCh37	4	79458286	79458286	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs774755425	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	110	0	ENST00000264895.6:c.11230T>A	p.Tyr3744Asn	p.Y3744N	ENST00000264895	NM_025074.6	3744	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS54771.1	11230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTACAAT	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	72/74	.	.	.	.	.	.	.	.	rs774755425	72/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Tyr1973Asn,ENST00000512123,;FRAS1,missense_variant,p.Tyr3744Asn,ENST00000264895,;	11670	110	82	SUCCESS
ANTXR2	118429	.	GRCh37	4	80899212	80899212	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	41	159	0	ENST00000307333.7:c.1296A>T	p.Arg432=	p.R432=	ENST00000307333	NM_001145794.1	432	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47086.1	1296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGTCGAGG	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF038023,Pfam_domain:PF05586,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF13	.	.	ENSP00000306185	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000307333	Transcript	1	.	ENSG00000163297	21732	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANTR2_HUMAN	ANTXR2	HGNC	.	.	UPI000036725D	SNV	ANTXR2,synonymous_variant,p.%3D,ENST00000307333,;ANTXR2,synonymous_variant,p.%3D,ENST00000403729,;ANTXR2,synonymous_variant,p.%3D,ENST00000404191,;ANTXR2,synonymous_variant,p.%3D,ENST00000346652,;ANTXR2,3_prime_UTR_variant,,ENST00000449651,;	1299	160	121	SUCCESS
Z95704.2	0	.	GRCh37	4	85692	85692	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	57	138	1	ENST00000380882.5:n.72A>G		p.*24*	ENST00000380882				0	.	.	.	.	.	G	.	pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTATACTGAA	NONE	.	.	.	.	.	.	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000380882	Transcript	.	.	ENSG00000255436	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	Z95704.2	Clone_based_ensembl_gene	.	.	.	SNV	ZNF595,non_coding_transcript_exon_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;Z95704.2,non_coding_transcript_exon_variant,,ENST00000380882,;	72	139	108	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86916311	86916311	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	67	1	ENST00000395184.1:c.1504A>T	p.Ser502Cys	p.S502C	ENST00000395184	NM_001025616.2	502	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS34025.1	1504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGAGCTGG	NONE	.	.	hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5	.	.	ENSP00000378611	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.2)	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,missense_variant,p.Ser409Cys,ENST00000264343,;ARHGAP24,missense_variant,p.Ser417Cys,ENST00000514229,;ARHGAP24,missense_variant,p.Ser502Cys,ENST00000395184,;ARHGAP24,missense_variant,p.Ser407Cys,ENST00000395183,;	1970	68	52	SUCCESS
CCSER1	401145	.	GRCh37	4	91549369	91549369	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	60	137	0	ENST00000509176.1:c.1918A>G	p.Arg640Gly	p.R640G	ENST00000509176	NM_001145065.1	640	Aga/Gga	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS47099.1	1918	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGAGTT	NONE	.	.	hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	.	.	ENSP00000425040	.	6/11	.	.	.	.	.	.	.	.	COSM4165065,COSM4165064,COSM4165063	6/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1,1	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,missense_variant,p.Arg640Gly,ENST00000509176,;CCSER1,missense_variant,p.Arg640Gly,ENST00000333691,;CCSER1,missense_variant,p.Arg640Gly,ENST00000432775,;CCSER1,missense_variant,p.Arg66Gly,ENST00000513522,;CCSER1,missense_variant,p.Arg640Gly,ENST00000505073,;CCSER1,missense_variant,p.Arg67Gly,ENST00000502478,;	2206	137	110	SUCCESS
GRID2	2895	.	GRCh37	4	94436432	94436432	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	39	84	0	ENST00000282020.4:c.2063A>G	p.Tyr688Cys	p.Y688C	ENST00000282020	NM_001510.2	688	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS3637.1	2063	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATATGAGC	BUFFER|p.A686A|c.2058G>A|3	.	.	hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282020	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000282020	Transcript	1	.	ENSG00000152208	4576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	GRID2_HUMAN	GRID2	HGNC	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN	.	UPI00001AEA78	SNV	GRID2,missense_variant,p.Tyr688Cys,ENST00000282020,;GRID2,missense_variant,p.Tyr593Cys,ENST00000510992,;	2321	84	77	SUCCESS
ATOH1	474	.	GRCh37	4	94750985	94750985	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	34	0	ENST00000306011.3:c.908C>A	p.Thr303Lys	p.T303K	ENST00000306011	NM_005172.1	303	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS3638.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACAGCGA	NONE	.	.	hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF82	.	.	ENSP00000302216	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306011	Transcript	.	.	ENSG00000172238	797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.535)	.	deleterious(0.01)	.	ATOH1_HUMAN	ATOH1	HGNC	Q6ISE7_HUMAN	.	UPI0000126231	SNV	ATOH1,missense_variant,p.Thr303Lys,ENST00000306011,;	944	34	51	SUCCESS
SLC12A7	10723	.	GRCh37	5	1053467	1053467	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	72	0	ENST00000264930.5:c.3157A>T	p.Asn1053Tyr	p.N1053Y	ENST00000264930	NM_006598.2	1053	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS34129.1	3157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGTTCTCGT	NONE	.	.	hmmpanther:PTHR11827:SF47,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	.	.	ENSP00000264930	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000264930	Transcript	.	.	ENSG00000113504	10915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	tolerated(0.13)	.	S12A7_HUMAN	SLC12A7	HGNC	.	.	UPI0000141815	SNV	SLC12A7,missense_variant,p.Asn1053Tyr,ENST00000264930,;SLC12A7,downstream_gene_variant,,ENST00000513223,;SLC12A7,downstream_gene_variant,,ENST00000514994,;	3201	72	56	SUCCESS
TMEM232	642987	.	GRCh37	5	109904164	109904164	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	106	0	ENST00000455884.2:c.1439C>T	p.Ala480Val	p.A480V	ENST00000455884		480	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47253.2	1439	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTGCATTT	NONE	.	.	.	.	.	ENSP00000401477	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000455884	Transcript	.	.	ENSG00000186952	37270	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	TM232_HUMAN	TMEM232	HGNC	D6REY3_HUMAN,D6RC30_HUMAN	.	UPI00017A7675	SNV	TMEM232,missense_variant,p.Ala480Val,ENST00000429839,;TMEM232,missense_variant,p.Ala480Val,ENST00000455884,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,downstream_gene_variant,,ENST00000515363,;TMEM232,3_prime_UTR_variant,,ENST00000512003,;TMEM232,non_coding_transcript_exon_variant,,ENST00000508571,;	1490	106	75	SUCCESS
WDR36	134430	.	GRCh37	5	110430616	110430616	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	25	71	0	ENST00000506538.2:c.331-2A>T		p.X111_splice	ENST00000506538	NM_139281.2	111		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4102.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACAGGTTC	NONE	.	.	.	.	.	ENSP00000423067	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	HIGH	1/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,splice_acceptor_variant,,ENST00000513710,;WDR36,splice_acceptor_variant,,ENST00000506538,;WDR36,splice_acceptor_variant,,ENST00000505303,;WDR36,upstream_gene_variant,,ENST00000504122,;CTC-551A13.2,upstream_gene_variant,,ENST00000507269,;WDR36,splice_acceptor_variant,,ENST00000515784,;	.	71	44	SUCCESS
CTNND2	1501	.	GRCh37	5	11098804	11098804	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	65	0	ENST00000304623.8:c.2520G>T	p.Met840Ile	p.M840I	ENST00000304623	NM_001332.2	840	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS3881.1	2520	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCATCTG	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF00514,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	15/22	.	.	.	.	.	.	.	.	COSM1432113	15/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.744)	.	deleterious(0)	1	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Met840Ile,ENST00000304623,;CTNND2,missense_variant,p.Met503Ile,ENST00000503622,;CTNND2,missense_variant,p.Met749Ile,ENST00000511377,;CTNND2,missense_variant,p.Met407Ile,ENST00000458100,;CTNND2,intron_variant,,ENST00000359640,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Met594Ile,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2710	65	58	SUCCESS
CTNND2	1501	.	GRCh37	5	11117662	11117662	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	108	0	ENST00000304623.8:c.2177G>T	p.Gly726Val	p.G726V	ENST00000304623	NM_001332.2	726	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS3881.1	2177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCCGGCC	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	.	.	ENSP00000307134	.	13/22	.	.	.	.	.	.	.	.	COSM371931	13/22	PASS	ENST00000304623	Transcript	1	.	ENSG00000169862	2516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.979)	.	deleterious(0)	1	CTND2_HUMAN	CTNND2	HGNC	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN	.	UPI000013E9AB	SNV	CTNND2,missense_variant,p.Gly726Val,ENST00000304623,;CTNND2,missense_variant,p.Gly726Val,ENST00000359640,;CTNND2,missense_variant,p.Gly389Val,ENST00000503622,;CTNND2,missense_variant,p.Gly635Val,ENST00000511377,;CTNND2,missense_variant,p.Gly293Val,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Gly480Val,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	2367	108	71	SUCCESS
PRR16	51334	.	GRCh37	5	120022245	120022245	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	135	0	ENST00000407149.2:c.756T>C	p.Pro252=	p.P252=	ENST00000407149		252	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4127.1	687	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTCCTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Pfam_domain:PF15252	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,synonymous_variant,p.%3D,ENST00000407149,;PRR16,synonymous_variant,p.%3D,ENST00000446965,;PRR16,synonymous_variant,p.%3D,ENST00000505123,;PRR16,synonymous_variant,p.%3D,ENST00000379551,;PRR16,downstream_gene_variant,,ENST00000509923,;	1044	136	96	SUCCESS
SNCAIP	9627	.	GRCh37	5	121780395	121780395	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	101	0	ENST00000261368.8:c.1560T>C	p.Ser520=	p.S520=	ENST00000261368	NM_005460.2	520	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4131.1	1560	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCTCAAGT	NONE	.	.	hmmpanther:PTHR22882	.	.	ENSP00000261368	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000261368	Transcript	1	.	ENSG00000064692	11139	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNCAP_HUMAN	SNCAIP	HGNC	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN	.	UPI000006D872	SNV	SNCAIP,synonymous_variant,p.%3D,ENST00000379536,;SNCAIP,synonymous_variant,p.%3D,ENST00000509154,;SNCAIP,synonymous_variant,p.%3D,ENST00000261368,;SNCAIP,synonymous_variant,p.%3D,ENST00000379538,;SNCAIP,synonymous_variant,p.%3D,ENST00000542191,;SNCAIP,synonymous_variant,p.%3D,ENST00000379533,;SNCAIP,synonymous_variant,p.%3D,ENST00000414317,;SNCAIP,synonymous_variant,p.%3D,ENST00000261367,;SNCAIP,3_prime_UTR_variant,,ENST00000503116,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;CTC-210G5.1,non_coding_transcript_exon_variant,,ENST00000505546,;CTC-210G5.1,intron_variant,,ENST00000510972,;CTC-210G5.1,intron_variant,,ENST00000503529,;CTC-210G5.1,intron_variant,,ENST00000506053,;CTC-210G5.1,intron_variant,,ENST00000509993,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000509023,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000513719,;SNCAIP,downstream_gene_variant,,ENST00000510003,;	1822	101	69	SUCCESS
ZNF608	57507	.	GRCh37	5	123983650	123983650	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	157	0	ENST00000306315.5:c.2427A>G	p.Lys809=	p.K809=	ENST00000306315	NM_020747.2	809	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS34219.1	2427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCTTTGAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	.	.	ENSP00000307746	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000306315	Transcript	.	.	ENSG00000168916	29238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN608_HUMAN	ZNF608	HGNC	Q9UFL4_HUMAN,B3KPE6_HUMAN	.	UPI000013EB23	SNV	ZNF608,synonymous_variant,p.%3D,ENST00000306315,;ZNF608,synonymous_variant,p.%3D,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000505686,;	2863	158	119	SUCCESS
TERT	7015	.	GRCh37	5	1254534	1254534	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	72	0	ENST00000310581.5:c.3244C>T	p.Leu1082=	p.L1082=	ENST00000310581	NM_198253.2	1082	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3861.2	3244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGCTTGA	NONE	.	.	hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066	.	.	ENSP00000309572	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,synonymous_variant,p.%3D,ENST00000310581,;TERT,synonymous_variant,p.%3D,ENST00000334602,;TERT,3_prime_UTR_variant,,ENST00000296820,;TERT,3_prime_UTR_variant,,ENST00000460137,;TERT,non_coding_transcript_exon_variant,,ENST00000484238,;	3302	72	51	SUCCESS
FBN2	2201	.	GRCh37	5	127609596	127609596	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	73	190	0	ENST00000262464.4:c.7776A>C	p.Pro2592=	p.P2592=	ENST00000262464	NM_001999.3	2592	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS34222.1	7776	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGGAGT	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	67/71	.	.	.	.	.	.	.	.	.	67/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;	8751	190	136	SUCCESS
FBN2	2201	.	GRCh37	5	127653902	127653902	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	84	215	0	ENST00000262464.4:c.4656T>C	p.Gly1552=	p.G1552=	ENST00000262464	NM_001999.3	1552	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS34222.1	4656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCGACCAGG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	.	.	ENSP00000424571	.	42/71	.	.	.	.	.	.	.	.	.	42/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;	5631	215	162	SUCCESS
FNIP1	96459	.	GRCh37	5	131066598	131066598	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	44	164	0	ENST00000510461.1:c.353A>T	p.Gln118Leu	p.Q118L	ENST00000510461	NM_133372.2	118	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34227.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTGGTAC	NONE	.	.	hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14636	.	.	ENSP00000421985	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000510461	Transcript	.	.	ENSG00000217128	29418	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	FNIP1_HUMAN	FNIP1	HGNC	B3KX44_HUMAN	.	UPI00001AEE81	SNV	FNIP1,missense_variant,p.Gln118Leu,ENST00000307968,;FNIP1,missense_variant,p.Gln118Leu,ENST00000510461,;FNIP1,missense_variant,p.Gln118Leu,ENST00000511848,;CTC-432M15.3,intron_variant,,ENST00000514667,;FNIP1,intron_variant,,ENST00000307954,;	449	164	108	SUCCESS
PDLIM4	8572	.	GRCh37	5	131607517	131607517	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs557597794	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	57	0	ENST00000253754.3:c.704T>A	p.Leu235His	p.L235H	ENST00000253754	NM_003687.3	235	cTc/cAc	0	.	A:0.0008	.	A:0	.	A	L/H	protein_coding	YES	CCDS4152.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTCAAGC	NONE	by1000G	.	hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF6	A:0	.	ENSP00000253754	A:0	6/7	.	.	.	.	.	.	.	.	rs557597794	6/7	PASS	ENST00000253754	Transcript	.	A:0.0002	ENSG00000131435	16501	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	A:0	deleterious(0)	.	PDLI4_HUMAN	PDLIM4	HGNC	C9J542_HUMAN	.	UPI00001338F6	SNV	PDLIM4,missense_variant,p.Leu235His,ENST00000253754,;P4HA2,intron_variant,,ENST00000431054,;PDLIM4,intron_variant,,ENST00000379018,;P4HA2,intron_variant,,ENST00000439698,;P4HA2,intron_variant,,ENST00000416053,;PDLIM4,downstream_gene_variant,,ENST00000418373,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000484620,;P4HA2,intron_variant,,ENST00000471826,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000462597,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000474421,;	768	57	50	SUCCESS
TCF7	6932	.	GRCh37	5	133451714	133451714	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs570365840	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	136	0	ENST00000342854.5:c.431A>T	p.Gln144Leu	p.Q144L	ENST00000342854	NM_003202.3	144	cAg/cTg	0	.	T:0.0015	.	T:0	.	T	Q/L	protein_coding	YES	CCDS4169.1	431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCAGCCCC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR10373:SF33,hmmpanther:PTHR10373,Pfam_domain:PF08347	T:0	.	ENSP00000340347	T:0	3/10	.	.	.	.	.	.	.	.	rs570365840	3/10	PASS	ENST00000342854	Transcript	.	T:0.0004	ENSG00000081059	11639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.888)	T:0	tolerated(0.69)	.	TCF7_HUMAN	TCF7	HGNC	E5RJ51_HUMAN,E5RG75_HUMAN,B3KQ75_HUMAN	.	UPI000006230C	SNV	TCF7,missense_variant,p.Gln29Leu,ENST00000432532,;TCF7,missense_variant,p.Gln29Leu,ENST00000518887,;TCF7,missense_variant,p.Gln144Leu,ENST00000321584,;TCF7,missense_variant,p.Gln144Leu,ENST00000321603,;TCF7,missense_variant,p.Gln144Leu,ENST00000342854,;TCF7,missense_variant,p.Gln144Leu,ENST00000378564,;TCF7,missense_variant,p.Gln29Leu,ENST00000522375,;TCF7,missense_variant,p.Gln29Leu,ENST00000521639,;TCF7,missense_variant,p.Gln29Leu,ENST00000395023,;TCF7,missense_variant,p.Gln29Leu,ENST00000517851,;TCF7,missense_variant,p.Gln29Leu,ENST00000518915,;TCF7,missense_variant,p.Gln29Leu,ENST00000520958,;TCF7,missense_variant,p.Gln29Leu,ENST00000378560,;TCF7,missense_variant,p.Gln144Leu,ENST00000395029,;TCF7,missense_variant,p.Gln29Leu,ENST00000519447,;TCF7,missense_variant,p.Gln23Leu,ENST00000520652,;TCF7,missense_variant,p.Gln29Leu,ENST00000517741,;TCF7,non_coding_transcript_exon_variant,,ENST00000522653,;TCF7,non_coding_transcript_exon_variant,,ENST00000519165,;	627	136	64	SUCCESS
CDKL3	51265	.	GRCh37	5	133644327	133644327	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs748095442	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	23	53	0	ENST00000265334.4:c.973A>T	p.Arg325Trp	p.R325W	ENST00000265334	NM_001113575.1	325	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47264.1	973	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCTGAGTT	NONE	.	.	hmmpanther:PTHR24056:SF177,hmmpanther:PTHR24056	.	.	ENSP00000265334	.	8/13	.	.	.	.	.	.	.	.	rs748095442	8/13	PASS	ENST00000265334	Transcript	.	.	ENSG00000006837	15483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.375)	.	deleterious(0.02)	.	CDKL3_HUMAN	CDKL3	HGNC	.	.	UPI00000745AD	SNV	CDKL3,missense_variant,p.Arg325Trp,ENST00000523832,;CDKL3,missense_variant,p.Arg30Trp,ENST00000609383,;CDKL3,missense_variant,p.Arg136Trp,ENST00000609654,;CDKL3,missense_variant,p.Arg325Trp,ENST00000435211,;CDKL3,missense_variant,p.Arg325Trp,ENST00000265334,;CDKL3,missense_variant,p.Arg136Trp,ENST00000523054,;CDKL3,missense_variant,p.Arg30Trp,ENST00000435240,;CDKL3,missense_variant,p.Arg325Trp,ENST00000521118,;CDKL3,missense_variant,p.Arg30Trp,ENST00000536186,;CDKL3,intron_variant,,ENST00000521755,;CDKL3,upstream_gene_variant,,ENST00000518990,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000518409,;CDKL3,3_prime_UTR_variant,,ENST00000520693,;CDKL3,3_prime_UTR_variant,,ENST00000520592,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000520515,;CDKL3,intron_variant,,ENST00000519312,;	1092	53	42	SUCCESS
DDX46	9879	.	GRCh37	5	134109540	134109540	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	63	165	0	ENST00000354283.4:c.602A>G	p.Glu201Gly	p.E201G	ENST00000354283		201	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34240.1	602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGAGGACG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158	.	.	ENSP00000346236	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000354283	Transcript	.	.	ENSG00000145833	18681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	DDX46_HUMAN	DDX46	HGNC	.	.	UPI0000072E73	SNV	DDX46,missense_variant,p.Glu201Gly,ENST00000354283,;DDX46,missense_variant,p.Glu201Gly,ENST00000452510,;DDX46,missense_variant,p.Glu153Gly,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000509255,;	737	165	107	SUCCESS
DNAJC18	202052	.	GRCh37	5	138760775	138760775	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	24	52	0	ENST00000302060.5:c.588A>G	p.Thr196=	p.T196=	ENST00000302060	NM_152686.3	196	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS4214.1	588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTGTCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24078:SF15,hmmpanther:PTHR24078	.	.	ENSP00000302843	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000302060	Transcript	.	.	ENSG00000170464	28429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DJC18_HUMAN	DNAJC18	HGNC	D6REJ9_HUMAN,D6RCS7_HUMAN,D6RB03_HUMAN	.	UPI00000375B2	SNV	DNAJC18,synonymous_variant,p.%3D,ENST00000302060,;DNAJC18,synonymous_variant,p.%3D,ENST00000508445,;DNAJC18,upstream_gene_variant,,ENST00000514052,;DNAJC18,downstream_gene_variant,,ENST00000515277,;DNAJC18,downstream_gene_variant,,ENST00000515581,;DNAJC18,non_coding_transcript_exon_variant,,ENST00000507405,;DNAJC18,3_prime_UTR_variant,,ENST00000505568,;DNAJC18,3_prime_UTR_variant,,ENST00000506870,;DNAJC18,upstream_gene_variant,,ENST00000510770,;	669	52	47	SUCCESS
ECSCR	641700	.	GRCh37	5	138837135	138837135	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199523425	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	39	94	1	ENST00000515823.1:c.212C>A	p.Thr71Asn	p.T71N	ENST00000515823	NM_001077693.2	71	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	.	212	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGTACCA	NONE	byCluster	.	.	.	.	ENSP00000421364	.	4/4	.	.	.	.	.	.	.	.	rs199523425	4/4	PASS	ENST00000515823	Transcript	.	.	ENSG00000249751	35454	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.607)	.	tolerated(0.07)	.	ECSCR_HUMAN	ECSCR	HGNC	C3RSF2_HUMAN	.	UPI0001D3B855	SNV	ECSCR,missense_variant,p.Thr71Asn,ENST00000515823,;	285	95	64	SUCCESS
PSD2	84249	.	GRCh37	5	139193135	139193135	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	45	90	0	ENST00000274710.3:c.613T>A	p.Phe205Ile	p.F205I	ENST00000274710	NM_032289.2	205	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS4216.1	613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGTTTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109	.	.	ENSP00000274710	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000274710	Transcript	.	.	ENSG00000146005	19092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.4)	.	PSD2_HUMAN	PSD2	HGNC	.	.	UPI0000073C6B	SNV	PSD2,missense_variant,p.Phe205Ile,ENST00000274710,;	818	90	73	SUCCESS
HARS	0	.	GRCh37	5	140056273	140056273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	109	0	ENST00000504156.1:c.1160A>G	p.Glu387Gly	p.E387G	ENST00000504156	NM_002109.4	387	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4237.1	1160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCTCCACC	NONE	.	.	PROSITE_profiles:PS50862,HAMAP:MF_00127,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF3,TIGRFAM_domain:TIGR00442,Pfam_domain:PF13393,Gene3D:3.30.930.10,PIRSF_domain:PIRSF001549,Superfamily_domains:SSF55681	.	.	ENSP00000425634	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000504156	Transcript	1	.	ENSG00000170445	4816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SYHC_HUMAN	HARS	HGNC	D6RF05_HUMAN,B3KWE1_HUMAN	.	UPI00001364CE	SNV	HARS,missense_variant,p.Glu318Gly,ENST00000504366,;HARS,missense_variant,p.Glu192Gly,ENST00000448240,;HARS,missense_variant,p.Glu273Gly,ENST00000431330,;HARS,missense_variant,p.Glu387Gly,ENST00000504156,;HARS,missense_variant,p.Glu367Gly,ENST00000457527,;HARS,missense_variant,p.Glu277Gly,ENST00000507746,;HARS,missense_variant,p.Glu327Gly,ENST00000307633,;HARS,missense_variant,p.Glu313Gly,ENST00000415192,;HARS,missense_variant,p.Glu347Gly,ENST00000438307,;WDR55,downstream_gene_variant,,ENST00000358337,;DND1,upstream_gene_variant,,ENST00000542735,;WDR55,downstream_gene_variant,,ENST00000520764,;HARS,non_coding_transcript_exon_variant,,ENST00000506579,;HARS,upstream_gene_variant,,ENST00000509087,;WDR55,downstream_gene_variant,,ENST00000504897,;HARS,downstream_gene_variant,,ENST00000512396,;WDR55,downstream_gene_variant,,ENST00000511232,;HARS,downstream_gene_variant,,ENST00000518126,;WDR55,downstream_gene_variant,,ENST00000506393,;	1880	109	70	SUCCESS
PCDHA3	56145	.	GRCh37	5	140180880	140180880	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs781856490	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	24	0	ENST00000522353.2:c.98A>T	p.Tyr33Phe	p.Y33F	ENST00000522353	NM_018906.2	33	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS54915.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTACTCCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	rs781856490	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,missense_variant,p.Tyr33Phe,ENST00000532566,;PCDHA3,missense_variant,p.Tyr33Phe,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA2,downstream_gene_variant,,ENST00000378132,;	98	24	31	SUCCESS
PCDHA7	56141	.	GRCh37	5	140215472	140215472	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1554135389	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	48	0	ENST00000525929.1:c.1504C>G	p.Arg502Gly	p.R502G	ENST00000525929	NM_018910.2	502	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS54918.1	1504	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAGCGCGCG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	.	.	ENSP00000436426	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000525929	Transcript	.	.	ENSG00000204963	8673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.413)	.	deleterious_low_confidence(0.02)	.	PCDA7_HUMAN	PCDHA7	HGNC	.	.	UPI00001273CF	SNV	PCDHA7,missense_variant,p.Arg502Gly,ENST00000378125,;PCDHA7,missense_variant,p.Arg502Gly,ENST00000525929,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;	1504	48	47	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237048	140237048	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs782545869	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	65	92	0	ENST00000307360.5:c.1415A>T	p.His472Leu	p.H472L	ENST00000307360	NM_018901.2	472	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS54921.1	1415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCACATCT	NONE	byFrequency	.	Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	rs782545869	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	deleterious_low_confidence(0.01)	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,missense_variant,p.His472Leu,ENST00000506939,;PCDHA10,missense_variant,p.His472Leu,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	1415	92	70	SUCCESS
PCDHA10	56139	.	GRCh37	5	140237342	140237342	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs782736508	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	19	22	0	ENST00000307360.5:c.1709G>T	p.Gly570Val	p.G570V	ENST00000307360	NM_018901.2	570	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS54921.1	1709	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGCAGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	.	.	ENSP00000304234	.	1/4	.	.	.	.	.	.	.	.	rs782736508	1/4	PASS	ENST00000307360	Transcript	.	.	ENSG00000250120	8664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated_low_confidence(0.07)	.	PCDAA_HUMAN	PCDHA10	HGNC	.	.	UPI00001273D3	SNV	PCDHA10,missense_variant,p.Gly570Val,ENST00000307360,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA9,intron_variant,,ENST00000532602,;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA9,downstream_gene_variant,,ENST00000378122,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	1709	22	21	SUCCESS
PCDHA12	56137	.	GRCh37	5	140257188	140257188	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	71	0	ENST00000398631.2:c.2131C>T	p.Leu711=	p.L711=	ENST00000398631	NM_018903.2	711	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS47285.1	2131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	.	.	ENSP00000381628	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398631	Transcript	.	.	ENSG00000251664	8666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDAC_HUMAN	PCDHA12	HGNC	.	.	UPI00001273D5	SNV	PCDHA12,synonymous_variant,p.%3D,ENST00000398631,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;PCDHA13,upstream_gene_variant,,ENST00000289272,;PCDHA13,upstream_gene_variant,,ENST00000409494,;	2131	71	61	SUCCESS
PCDHA13	56136	.	GRCh37	5	140263324	140263324	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	93	0	ENST00000289272.2:c.1471T>A	p.Ser491Thr	p.S491T	ENST00000289272	NM_018904.2	491	Tcc/Acc	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS4240.1	1471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCTCCTAC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,PROSITE_profiles:PS50268	.	.	ENSP00000289272	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000289272	Transcript	.	.	ENSG00000239389	8667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated_low_confidence(0.06)	.	PCDAD_HUMAN	PCDHA13	HGNC	.	.	UPI00001273D6	SNV	PCDHA13,missense_variant,p.Ser491Thr,ENST00000289272,;PCDHA13,missense_variant,p.Ser491Thr,ENST00000409494,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA10,intron_variant,,ENST00000506939,;PCDHA8,intron_variant,,ENST00000531613,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA11,intron_variant,,ENST00000398640,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA12,intron_variant,,ENST00000398631,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,intron_variant,,ENST00000525929,;PCDHA10,intron_variant,,ENST00000307360,;PCDHA9,intron_variant,,ENST00000532602,;	1471	93	71	SUCCESS
PCDHB2	56133	.	GRCh37	5	140474700	140474700	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	63	124	1	ENST00000194155.4:c.326A>T	p.Gln109Leu	p.Q109L	ENST00000194155	NM_018936.2	109	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4244.1	326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAGGTGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF77,hmmpanther:PTHR24028,Pfam_domain:PF08266,SMART_domains:SM00112	.	.	ENSP00000194155	.	1/1	.	.	.	.	.	.	.	.	COSM3851371	1/1	PASS	ENST00000194155	Transcript	.	.	ENSG00000112852	8687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.95)	.	deleterious_low_confidence(0)	1	PCDB2_HUMAN	PCDHB2	HGNC	.	.	UPI00001273DC	SNV	PCDHB2,missense_variant,p.Gln109Leu,ENST00000194155,;	474	125	118	SUCCESS
PCDHB3	56132	.	GRCh37	5	140480277	140480277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	101	0	ENST00000231130.2:c.44T>C	p.Leu15Ser	p.L15S	ENST00000231130	NM_018937.2	15	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS4245.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTGCTTC	NONE	.	.	hmmpanther:PTHR24028:SF19,hmmpanther:PTHR24028,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000231130	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious_low_confidence(0.01)	.	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,missense_variant,p.Leu15Ser,ENST00000231130,;PCDHB2,downstream_gene_variant,,ENST00000194155,;AC005754.7,non_coding_transcript_exon_variant,,ENST00000607216,;	44	101	73	SUCCESS
PCDHB10	56126	.	GRCh37	5	140572209	140572209	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	126	313	0	ENST00000239446.4:c.84T>C	p.Ser28=	p.S28=	ENST00000239446	NM_018930.3	28	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4252.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTGGGTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,synonymous_variant,p.%3D,ENST00000239446,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	268	313	242	SUCCESS
PCDHGA3	56112	.	GRCh37	5	140725276	140725276	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	86	0	ENST00000253812.6:c.1676C>T	p.Ala559Val	p.A559V	ENST00000253812	NM_018916.3	559	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS47290.1	1676	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACGCGCCCG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000253812	.	1/4	.	.	.	.	.	.	.	.	COSM1261444	1/4	PASS	ENST00000253812	Transcript	.	.	ENSG00000254245	8701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.01)	.	tolerated_low_confidence(0.33)	1	PCDG3_HUMAN	PCDHGA3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000161C1A	SNV	PCDHGA3,missense_variant,p.Ala559Val,ENST00000253812,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,upstream_gene_variant,,ENST00000523390,;PCDHGA2,downstream_gene_variant,,ENST00000528330,;	1676	86	64	SUCCESS
PCDHGB3	56102	.	GRCh37	5	140751344	140751344	+	synonymous_variant	Silent	SNP	A	A	T	rs368442078	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	87	0	ENST00000576222.1:c.1383A>T	p.Val461=	p.V461=	ENST00000576222	NM_018924.2	461	gtA/gtT	0	G:0.0002	.	.	.	.	T	V	protein_coding	YES	CCDS58980.1	1383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTAGCTGA	NONE	byCluster	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	G:0	ENSP00000461862	.	1/4	.	.	.	.	.	.	.	.	rs368442078	1/4	PASS	ENST00000576222	Transcript	.	.	ENSG00000262209	8710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGF_HUMAN	PCDHGB3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006FA6F	SNV	PCDHGB3,synonymous_variant,p.%3D,ENST00000576222,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA6,upstream_gene_variant,,ENST00000517434,;	1514	87	60	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140793269	140793269	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	30	63	0	ENST00000398610.2:c.527T>A	p.Leu176His	p.L176H	ENST00000398610	NM_018913.2	176	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS47292.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTCAGCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Leu176His,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	527	63	48	SUCCESS
PCDHGA10	56106	.	GRCh37	5	140794504	140794504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	48	0	ENST00000398610.2:c.1762C>T	p.Pro588Ser	p.P588S	ENST00000398610	NM_018913.2	588	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS47292.1	1762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCCGGC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000381611	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398610	Transcript	.	.	ENSG00000253846	8697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.651)	.	deleterious_low_confidence(0.02)	.	PCDGA_HUMAN	PCDHGA10	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000726C3	SNV	PCDHGA10,missense_variant,p.Pro588Ser,ENST00000398610,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB7,upstream_gene_variant,,ENST00000398594,;	1762	48	41	SUCCESS
PCDHGC3	5098	.	GRCh37	5	140856012	140856012	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	57	109	0	ENST00000308177.3:c.329T>C	p.Leu110Ser	p.L110S	ENST00000308177	NM_002588.2	110	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS4261.1	329	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTTGGTAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000312070	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000308177	Transcript	.	.	ENSG00000240184	8716	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.849)	.	deleterious(0.01)	.	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F34F	SNV	PCDHGC3,missense_variant,p.Leu110Ser,ENST00000308177,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA12,intron_variant,,ENST00000252085,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	433	109	88	SUCCESS
SLC6A3	6531	.	GRCh37	5	1414820	1414820	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	53	0	ENST00000270349.9:c.1142A>G	p.Asp381Gly	p.D381G	ENST00000270349	NM_001044.4	381	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS3863.1	1142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGTCCCCG	NONE	.	.	Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	.	.	ENSP00000270349	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000270349	Transcript	1	.	ENSG00000142319	11049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.278)	.	deleterious(0.01)	.	SC6A3_HUMAN	SLC6A3	HGNC	Q6LC27_HUMAN,H0YBA7_HUMAN	.	UPI000013548F	SNV	SLC6A3,missense_variant,p.Asp381Gly,ENST00000270349,;SLC6A3,missense_variant,p.Asp381Gly,ENST00000453492,;SLC6A3,downstream_gene_variant,,ENST00000513308,;SLC6A3,downstream_gene_variant,,ENST00000511750,;	1270	53	36	SUCCESS
ADRB2	154	.	GRCh37	5	148206948	148206948	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	47	0	ENST00000305988.4:c.554A>G	p.Tyr185Cys	p.Y185C	ENST00000305988	NM_000024.5	185	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS4292.1	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTATGCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF21,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000305372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305988	Transcript	1	.	ENSG00000169252	286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ADRB2_HUMAN	ADRB2	HGNC	Q9BYZ0_HUMAN	.	UPI000013EAD0	SNV	ADRB2,missense_variant,p.Tyr185Cys,ENST00000305988,;	793	47	44	SUCCESS
SH3TC2	79628	.	GRCh37	5	148406142	148406142	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	55	151	0	ENST00000515425.1:c.3046A>T	p.Thr1016Ser	p.T1016S	ENST00000515425	NM_024577.3	1016	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4293.1	3046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGTATTTA	NONE	.	.	hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	12/17	.	.	.	.	.	.	.	.	COSM3852608	12/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.542)	.	deleterious(0.01)	1	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,missense_variant,p.Thr1016Ser,ENST00000515425,;SH3TC2,missense_variant,p.Thr563Ser,ENST00000538184,;SH3TC2,missense_variant,p.Thr1009Ser,ENST00000512049,;SH3TC2,3_prime_UTR_variant,,ENST00000394358,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,missense_variant,p.Thr1016Ser,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	3148	151	119	SUCCESS
CAMK2A	815	.	GRCh37	5	149602599	149602599	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	55	0	ENST00000348628.6:c.1386G>A	p.Trp462Ter	p.W462*	ENST00000348628	NM_171825.2	462	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS43387.1	1419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGCCATTT	NONE	.	.	Superfamily_domains:SSF54427,Gene3D:3.10.450.50,Pfam_domain:PF08332,hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347	.	.	ENSP00000381412	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000398376	Transcript	.	.	ENSG00000070808	1460	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCC2A_HUMAN	CAMK2A	HGNC	D6RHX9_HUMAN,D6RFJ0_HUMAN,A8K161_HUMAN	.	UPI0000161115	SNV	CAMK2A,stop_gained,p.Trp462Ter,ENST00000348628,;CAMK2A,stop_gained,p.Trp473Ter,ENST00000398376,;SLC6A7,downstream_gene_variant,,ENST00000524041,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000351010,;	1423	55	36	SUCCESS
SLC36A2	153201	.	GRCh37	5	150704910	150704910	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	63	0	ENST00000335244.4:c.947T>A	p.Leu316Gln	p.L316Q	ENST00000335244	NM_181776.2	316	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS4315.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGAGCC	BUFFER|p.G317V|c.950G>T|13	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF185,hmmpanther:PTHR22950,Pfam_domain:PF01490	.	.	ENSP00000334223	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000335244	Transcript	1	.	ENSG00000186335	18762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	S36A2_HUMAN	SLC36A2	HGNC	E5RGH8_HUMAN	.	UPI000020D008	SNV	SLC36A2,missense_variant,p.Leu40Gln,ENST00000450886,;SLC36A2,missense_variant,p.Leu316Gln,ENST00000521967,;SLC36A2,missense_variant,p.Leu316Gln,ENST00000335244,;SLC36A2,missense_variant,p.Leu69Gln,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;	1077	63	38	SUCCESS
FAT2	2196	.	GRCh37	5	150945854	150945854	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	100	0	ENST00000261800.5:c.2639A>C	p.His880Pro	p.H880P	ENST00000261800	NM_001447.2	880	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS4317.1	2639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTGTCCT	BUFFER|p.R883H|c.2648G>A|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.His880Pro,ENST00000261800,;	2652	100	77	SUCCESS
FAT2	2196	.	GRCh37	5	150946124	150946124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	49	0	ENST00000261800.5:c.2369T>C	p.Val790Ala	p.V790A	ENST00000261800	NM_001447.2	790	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS4317.1	2369	RADIA|MUTECT|MUSE	.	CTGTTACATTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000261800	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000261800	Transcript	.	.	ENSG00000086570	3596	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.078)	.	.	.	FAT2_HUMAN	FAT2	HGNC	.	.	UPI0000055B22	SNV	FAT2,missense_variant,p.Val790Ala,ENST00000261800,;	2382	49	47	SUCCESS
FAXDC2	10826	.	GRCh37	5	154200873	154200873	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	74	201	0	ENST00000326080.5:c.792C>T	p.Gly264=	p.G264=	ENST00000326080	NM_032385.3	264	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS43390.1	792	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAGCCACA	NONE	.	.	hmmpanther:PTHR11863,hmmpanther:PTHR11863:SF26,Pfam_domain:PF04116	.	.	ENSP00000320604	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000326080	Transcript	.	.	ENSG00000170271	1334	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXDC2_HUMAN	FAXDC2	HGNC	E5RK01_HUMAN,E5RH84_HUMAN,B4DIE1_HUMAN	.	UPI000006DA29	SNV	FAXDC2,synonymous_variant,p.%3D,ENST00000517938,;FAXDC2,synonymous_variant,p.%3D,ENST00000326080,;FAXDC2,downstream_gene_variant,,ENST00000518651,;LARP1,downstream_gene_variant,,ENST00000336314,;FAXDC2,downstream_gene_variant,,ENST00000520968,;FAXDC2,downstream_gene_variant,,ENST00000519501,;FAXDC2,downstream_gene_variant,,ENST00000523997,;FAXDC2,3_prime_UTR_variant,,ENST00000520581,;FAXDC2,non_coding_transcript_exon_variant,,ENST00000524250,;FAXDC2,non_coding_transcript_exon_variant,,ENST00000423554,;FAXDC2,downstream_gene_variant,,ENST00000522825,;FAXDC2,downstream_gene_variant,,ENST00000521518,;FAXDC2,downstream_gene_variant,,ENST00000524363,;FAXDC2,downstream_gene_variant,,ENST00000519258,;	1216	202	150	SUCCESS
GEMIN5	25929	.	GRCh37	5	154287223	154287223	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1340413249	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	127	0	ENST00000285873.7:c.2323A>G	p.Asn775Asp	p.N775D	ENST00000285873	NM_001252156.1	775	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS4330.1	2323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATTCTCAA	NONE	.	.	hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850	.	.	ENSP00000285873	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	tolerated(0.11)	.	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,missense_variant,p.Asn775Asp,ENST00000285873,;	2399	127	80	SUCCESS
GEMIN5	25929	.	GRCh37	5	154317547	154317547	+	synonymous_variant	Silent	SNP	T	T	C	rs766727113	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	53	122	0	ENST00000285873.7:c.147A>G	p.Pro49=	p.P49=	ENST00000285873	NM_001252156.1	49	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4330.1	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTGGACT	NONE	.	.	hmmpanther:PTHR22850:SF89,hmmpanther:PTHR22850	.	.	ENSP00000285873	.	1/28	.	.	.	.	.	.	.	.	rs766727113	1/28	PASS	ENST00000285873	Transcript	.	.	ENSG00000082516	20043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEMI5_HUMAN	GEMIN5	HGNC	Q58EZ8_HUMAN	.	UPI000020D072	SNV	GEMIN5,synonymous_variant,p.%3D,ENST00000285873,;MRPL22,upstream_gene_variant,,ENST00000523037,;MRPL22,upstream_gene_variant,,ENST00000265229,;MRPL22,upstream_gene_variant,,ENST00000522038,;MRPL22,upstream_gene_variant,,ENST00000439747,;MRPL22,upstream_gene_variant,,ENST00000519059,;	223	122	116	SUCCESS
HAVCR1	26762	.	GRCh37	5	156485027	156485027	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	41	0	ENST00000339252.3:c.-73A>G		p.*25*	ENST00000339252	NM_012206.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43392.1	.	MUTECT|MUSE	.	TCAAGTCTTAA	NONE	.	.	.	.	.	ENSP00000344844	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000339252	Transcript	.	.	ENSG00000113249	17866	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HAVR1_HUMAN	HAVCR1	HGNC	E5RIF6_HUMAN	.	UPI000006EEEC	SNV	HAVCR1,5_prime_UTR_variant,,ENST00000425854,;HAVCR1,5_prime_UTR_variant,,ENST00000339252,;HAVCR1,5_prime_UTR_variant,,ENST00000522693,;HAVCR1,intron_variant,,ENST00000523175,;HAVCR1,intron_variant,,ENST00000544197,;HAVCR1,intron_variant,,ENST00000518745,;	461	41	28	SUCCESS
FAM71B	153745	.	GRCh37	5	156593123	156593123	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	30	130	0	ENST00000302938.4:c.57T>A	p.Ser19Arg	p.S19R	ENST00000302938	NM_130899.2	19	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS4335.1	57	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCACTCAT	NONE	.	.	hmmpanther:PTHR22574:SF2,hmmpanther:PTHR22574	.	.	ENSP00000305596	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000302938	Transcript	.	.	ENSG00000170613	28397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	deleterious(0)	.	FA71B_HUMAN	FAM71B	HGNC	.	.	UPI000006F9DC	SNV	FAM71B,missense_variant,p.Ser19Arg,ENST00000302938,;ITK,5_prime_UTR_variant,,ENST00000521769,;	153	130	74	SUCCESS
SOX30	11063	.	GRCh37	5	157065688	157065688	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	67	0	ENST00000265007.6:c.1430A>T	p.Gln477Leu	p.Q477L	ENST00000265007	NM_178424.1	477	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4339.1	1430	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCTGGACT	NONE	.	.	hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	.	.	ENSP00000265007	.	4/5	.	.	.	.	.	.	.	.	COSM1672085	4/5	PASS	ENST00000265007	Transcript	.	.	ENSG00000039600	30635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.859)	.	deleterious(0)	1	SOX30_HUMAN	SOX30	HGNC	.	.	UPI00001362BA	SNV	SOX30,missense_variant,p.Gln477Leu,ENST00000265007,;SOX30,missense_variant,p.Gln172Leu,ENST00000519442,;SOX30,intron_variant,,ENST00000311371,;	1772	67	51	SUCCESS
PWWP2A	114825	.	GRCh37	5	159519900	159519900	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	39	0	ENST00000307063.7:c.1757A>T	p.Asp586Val	p.D586V	ENST00000307063	NM_001130864.1	586	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS47332.1	1757	RADIA|MUTECT|MUSE	.	TGCTATCAATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF4	.	.	ENSP00000305151	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307063	Transcript	.	.	ENSG00000170234	29406	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	PWP2A_HUMAN	PWWP2A	HGNC	.	.	UPI0000EE3692	SNV	PWWP2A,missense_variant,p.Asp586Val,ENST00000307063,;PWWP2A,intron_variant,,ENST00000523662,;PWWP2A,intron_variant,,ENST00000456329,;PWWP2A,intron_variant,,ENST00000524050,;PWWP2A,intron_variant,,ENST00000521424,;PWWP2A,downstream_gene_variant,,ENST00000520662,;	1792	39	32	SUCCESS
PWWP2A	114825	.	GRCh37	5	159519933	159519933	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	43	0	ENST00000307063.7:c.1724C>G	p.Ser575Cys	p.S575C	ENST00000307063	NM_001130864.1	575	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS47332.1	1724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCAGATTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF4	.	.	ENSP00000305151	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307063	Transcript	.	.	ENSG00000170234	29406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.07)	.	PWP2A_HUMAN	PWWP2A	HGNC	.	.	UPI0000EE3692	SNV	PWWP2A,missense_variant,p.Ser575Cys,ENST00000307063,;PWWP2A,intron_variant,,ENST00000523662,;PWWP2A,intron_variant,,ENST00000456329,;PWWP2A,intron_variant,,ENST00000524050,;PWWP2A,intron_variant,,ENST00000521424,;PWWP2A,downstream_gene_variant,,ENST00000520662,;	1759	43	38	SUCCESS
GABRB2	2561	.	GRCh37	5	160753450	160753450	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	51	0	ENST00000274547.2:c.1116T>C	p.Tyr372=	p.Y372=	ENST00000274547	NM_000813.2	372	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS4355.1	1116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCGATATTG	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000274547	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000274547	Transcript	.	.	ENSG00000145864	4082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRB2_HUMAN	GABRB2	HGNC	D1M715_HUMAN	.	UPI000002AA29	SNV	GABRB2,synonymous_variant,p.%3D,ENST00000274547,;GABRB2,synonymous_variant,p.%3D,ENST00000393959,;GABRB2,intron_variant,,ENST00000517547,;GABRB2,intron_variant,,ENST00000520240,;GABRB2,intron_variant,,ENST00000353437,;GABRB2,intron_variant,,ENST00000517901,;	1334	51	51	SUCCESS
PLEKHG4B	153478	.	GRCh37	5	163383	163383	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	25	91	0	ENST00000283426.6:c.2128A>T	p.Thr710Ser	p.T710S	ENST00000283426	NM_052909.3	710	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS34124.1	2128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGACCCTG	NONE	.	.	hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	.	.	ENSP00000283426	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000283426	Transcript	.	.	ENSG00000153404	29399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.65)	.	PKH4B_HUMAN	PLEKHG4B	HGNC	.	.	UPI0000D615EE	SNV	PLEKHG4B,missense_variant,p.Thr710Ser,ENST00000283426,;	2178	91	33	SUCCESS
MYO10	4651	.	GRCh37	5	16711259	16711259	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	56	168	0	ENST00000513610.1:c.2025C>A	p.Val675=	p.V675=	ENST00000513610	NM_012334.2	675	gtC/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54834.1	2025	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCGGACCGC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,synonymous_variant,p.%3D,ENST00000513882,;MYO10,synonymous_variant,p.%3D,ENST00000274203,;MYO10,synonymous_variant,p.%3D,ENST00000427430,;MYO10,synonymous_variant,p.%3D,ENST00000515803,;MYO10,synonymous_variant,p.%3D,ENST00000505695,;MYO10,synonymous_variant,p.%3D,ENST00000513610,;MYO10,non_coding_transcript_exon_variant,,ENST00000510401,;MYO10,intron_variant,,ENST00000512061,;MYO10,intron_variant,,ENST00000506343,;MYO10,non_coding_transcript_exon_variant,,ENST00000511972,;MYO10,non_coding_transcript_exon_variant,,ENST00000508318,;	2480	169	96	SUCCESS
DOCK2	1794	.	GRCh37	5	169122911	169122911	+	synonymous_variant	Silent	SNP	G	G	T	rs199921409	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	69	0	ENST00000256935.8:c.948G>T	p.Thr316=	p.T316=	ENST00000256935	NM_004946.2	316	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4371.1	948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACGCAGGG	NONE	byCluster	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	.	.	ENSP00000256935	.	10/52	.	.	.	.	.	.	.	.	rs199921409	10/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,synonymous_variant,p.%3D,ENST00000256935,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523684,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519734,;DOCK2,synonymous_variant,p.%3D,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519223,;	1028	69	53	SUCCESS
DOCK2	1794	.	GRCh37	5	169144485	169144485	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	34	86	0	ENST00000256935.8:c.2129A>T	p.Tyr710Phe	p.Y710F	ENST00000256935	NM_004946.2	710	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS4371.1	2129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTACAAGT	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000256935	.	21/52	.	.	.	.	.	.	.	.	.	21/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.396)	.	deleterious(0.01)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Tyr710Phe,ENST00000256935,;DOCK2,missense_variant,p.Tyr202Phe,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,upstream_gene_variant,,ENST00000520836,;DOCK2,missense_variant,p.Tyr710Phe,ENST00000524185,;	2209	86	61	SUCCESS
DOCK2	1794	.	GRCh37	5	169188534	169188534	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs370192291	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	71	0	ENST00000256935.8:c.2459A>C	p.Tyr820Ser	p.Y820S	ENST00000256935	NM_004946.2	820	tAt/tCt	0	G:0.0002	.	.	.	.	C	Y/S	protein_coding	YES	CCDS4371.1	2459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTATGAGT	NONE	byCluster	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	G:0	ENSP00000256935	.	25/52	.	.	.	.	.	.	.	.	rs370192291	25/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.42)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Tyr820Ser,ENST00000256935,;DOCK2,missense_variant,p.Tyr24Ser,ENST00000519628,;DOCK2,missense_variant,p.Tyr312Ser,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520181,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,missense_variant,p.Tyr820Ser,ENST00000524185,;	2539	71	48	SUCCESS
STC2	8614	.	GRCh37	5	172744894	172744894	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	68	1	ENST00000265087.4:c.865G>T	p.Glu289Ter	p.E289*	ENST00000265087	NM_003714.2	289	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS4388.1	865	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCGCTGC	NONE	.	.	hmmpanther:PTHR11245,hmmpanther:PTHR11245:SF2	.	.	ENSP00000265087	.	4/4	.	.	.	.	.	.	.	.	COSM1266916	4/4	PASS	ENST00000265087	Transcript	.	.	ENSG00000113739	11374	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	STC2_HUMAN	STC2	HGNC	Q6FHC9_HUMAN,E5RG57_HUMAN,B3KNF2_HUMAN	.	UPI00001360B8	SNV	STC2,stop_gained,p.Glu289Ter,ENST00000265087,;STC2,downstream_gene_variant,,ENST00000520593,;	2175	70	47	SUCCESS
CPEB4	80315	.	GRCh37	5	173316557	173316557	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	29	0	ENST00000265085.5:c.-180A>T		p.*60*	ENST00000265085	NM_030627.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4390.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAGAGAC	NONE	.	.	.	.	.	ENSP00000265085	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000265085	Transcript	.	.	ENSG00000113742	21747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPEB4_HUMAN	CPEB4	HGNC	.	.	UPI000020C179	SNV	CPEB4,5_prime_UTR_variant,,ENST00000520867,;CPEB4,5_prime_UTR_variant,,ENST00000265085,;CPEB4,5_prime_UTR_variant,,ENST00000334035,;CPEB4,5_prime_UTR_variant,,ENST00000519835,;CPEB4,upstream_gene_variant,,ENST00000522336,;CPEB4,upstream_gene_variant,,ENST00000517880,;CPEB4,upstream_gene_variant,,ENST00000519152,;CPEB4,upstream_gene_variant,,ENST00000518141,;CPEB4,upstream_gene_variant,,ENST00000522344,;	1275	29	17	SUCCESS
NSD1	64324	.	GRCh37	5	176637954	176637954	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	82	0	ENST00000439151.2:c.2554A>G	p.Ile852Val	p.I852V	ENST00000439151	NM_022455.4	852	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4412.1	2554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACATAGAA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	.	.	ENSP00000395929	.	5/23	.	.	.	.	.	.	.	.	.	5/23	PASS	ENST00000439151	Transcript	1	.	ENSG00000165671	14234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.729)	.	deleterious_low_confidence(0.04)	.	NSD1_HUMAN	NSD1	HGNC	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN	.	UPI000006F9C6	SNV	NSD1,missense_variant,p.Ile749Val,ENST00000361032,;NSD1,missense_variant,p.Ile583Val,ENST00000354179,;NSD1,missense_variant,p.Ile852Val,ENST00000439151,;NSD1,missense_variant,p.Ile583Val,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;	2599	82	63	SUCCESS
SLC34A1	6569	.	GRCh37	5	176814993	176814993	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	25	63	0	ENST00000324417.5:c.645-2A>T		p.X215_splice	ENST00000324417	NM_003052.4	215		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4418.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAGGGCC	NONE	.	.	.	.	.	ENSP00000321424	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324417	Transcript	1	.	ENSG00000131183	11019	.	.	HIGH	6/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT2A_HUMAN	SLC34A1	HGNC	Q05BP0_HUMAN,D6RCE5_HUMAN	.	UPI0000130408	SNV	SLC34A1,splice_acceptor_variant,,ENST00000512593,;SLC34A1,splice_acceptor_variant,,ENST00000324417,;SLC34A1,downstream_gene_variant,,ENST00000504577,;SLC34A1,upstream_gene_variant,,ENST00000513614,;SLC34A1,non_coding_transcript_exon_variant,,ENST00000507685,;	.	63	46	SUCCESS
FAM153C	0	.	GRCh37	5	177474024	177474024	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	175	79	358	0	ENST00000507848.1:c.342-5A>T		p.X114_splice	ENST00000507848		114		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCATCAGG	NONE	.	.	.	.	.	ENSP00000424623	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000507848	Transcript	.	.	ENSG00000204677	33936	.	.	LOW	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F153C_HUMAN	FAM153C	HGNC	D6RA46_HUMAN	.	UPI000058E068	SNV	FAM153C,splice_region_variant,,ENST00000511189,;FAM153C,splice_region_variant,,ENST00000507848,;FAM153C,3_prime_UTR_variant,,ENST00000398106,;FAM153C,downstream_gene_variant,,ENST00000511856,;FAM153C,upstream_gene_variant,,ENST00000511511,;	.	358	254	SUCCESS
ZFP2	80108	.	GRCh37	5	178359135	178359135	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs147320919	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	29	83	0	ENST00000361362.2:c.821A>G	p.Gln274Arg	p.Q274R	ENST00000361362	NM_030613.2	274	cAa/cGa	0	C:0	.	.	.	.	G	Q/R	protein_coding	YES	CCDS4440.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCAATGTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF183,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	C:0.0002	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	rs147320919	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0.01)	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,missense_variant,p.Gln274Arg,ENST00000520301,;ZFP2,missense_variant,p.Gln274Arg,ENST00000503510,;ZFP2,missense_variant,p.Gln274Arg,ENST00000361362,;ZFP2,missense_variant,p.Gln274Arg,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1351	83	49	SUCCESS
ZNF454	285676	.	GRCh37	5	178369717	178369717	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	21	0	ENST00000320129.3:c.-76C>A		p.*26*	ENST00000320129	NM_182594.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4441.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCCTGCA	NONE	.	.	.	.	.	ENSP00000326249	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000320129	Transcript	.	.	ENSG00000178187	21200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN454_HUMAN	ZNF454	HGNC	.	.	UPI00001407C7	SNV	ZNF454,5_prime_UTR_variant,,ENST00000519564,;ZNF454,5_prime_UTR_variant,,ENST00000320129,;RP11-281O15.8,upstream_gene_variant,,ENST00000606195,;ZNF454,non_coding_transcript_exon_variant,,ENST00000522827,;	228	21	18	SUCCESS
ADAMTS2	9509	.	GRCh37	5	178566986	178566986	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	54	0	ENST00000251582.7:c.1680G>C	p.Arg560=	p.R560=	ENST00000251582	NM_014244.4	560	cgG/cgC	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS4444.1	1680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCCCGTTT	NONE	.	.	Superfamily_domains:SSF82895,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	.	.	ENSP00000251582	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000251582	Transcript	1	.	ENSG00000087116	218	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS2_HUMAN	ADAMTS2	HGNC	.	.	UPI00001AE729	SNV	ADAMTS2,synonymous_variant,p.%3D,ENST00000251582,;	1782	54	19	SUCCESS
FLT4	2324	.	GRCh37	5	180037027	180037027	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	56	0	ENST00000261937.6:c.3687-2A>T		p.X1229_splice	ENST00000261937	NM_182925.4	1229		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4457.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTGTGGG	NONE	.	.	.	.	.	ENSP00000261937	.	.	.	.	.	.	.	.	.	.	COSM336829,COSM336828	.	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	HIGH	27/29	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,splice_acceptor_variant,,ENST00000261937,;FLT4,splice_acceptor_variant,,ENST00000502649,;FLT4,splice_acceptor_variant,,ENST00000393347,;FLT4,downstream_gene_variant,,ENST00000512795,;FLT4,splice_acceptor_variant,,ENST00000502603,;FLT4,splice_acceptor_variant,,ENST00000507059,;FLT4,downstream_gene_variant,,ENST00000510000,;FLT4,downstream_gene_variant,,ENST00000514810,;	.	56	45	SUCCESS
ZFP62	643836	.	GRCh37	5	180278100	180278100	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	67	0	ENST00000502412.1:c.395A>T	p.Gln132Leu	p.Q132L	ENST00000502412	NM_001172638.1	132	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS54955.1	395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGCTGT	NONE	.	.	hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF15	.	.	ENSP00000423820	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000502412	Transcript	.	.	ENSG00000196670	23241	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.01)	.	ZFP62_HUMAN	ZFP62	HGNC	J3QSW3_HUMAN,D6RCF6_HUMAN,D6RBG3_HUMAN,D6R9C0_HUMAN	.	UPI0001C53D24	SNV	ZFP62,missense_variant,p.Gln99Leu,ENST00000504225,;ZFP62,missense_variant,p.Gln99Leu,ENST00000512132,;ZFP62,missense_variant,p.Gln72Leu,ENST00000359141,;ZFP62,missense_variant,p.Gln99Leu,ENST00000506439,;ZFP62,missense_variant,p.Gln132Leu,ENST00000502412,;ZFP62,downstream_gene_variant,,ENST00000509066,;ZFP62,intron_variant,,ENST00000506377,;ZFP62,upstream_gene_variant,,ENST00000507843,;	453	67	38	SUCCESS
TRIM41	90933	.	GRCh37	5	180661725	180661725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	70	0	ENST00000315073.5:c.1843C>A	p.Pro615Thr	p.P615T	ENST00000315073	NM_033549.4	615	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS4466.1	1843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCCTTTC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF286,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000320869	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,missense_variant,p.Pro615Thr,ENST00000315073,;TRIM41,intron_variant,,ENST00000351937,;GNB2L1,downstream_gene_variant,,ENST00000511900,;GNB2L1,downstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000504128,;GNB2L1,downstream_gene_variant,,ENST00000503081,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,downstream_gene_variant,,ENST00000504726,;GNB2L1,downstream_gene_variant,,ENST00000514455,;GNB2L1,downstream_gene_variant,,ENST00000512968,;GNB2L1,downstream_gene_variant,,ENST00000502844,;GNB2L1,downstream_gene_variant,,ENST00000502905,;TRIM41,downstream_gene_variant,,ENST00000515499,;GNB2L1,downstream_gene_variant,,ENST00000507756,;GNB2L1,downstream_gene_variant,,ENST00000376817,;GNB2L1,downstream_gene_variant,,ENST00000509535,;GNB2L1,downstream_gene_variant,,ENST00000511566,;GNB2L1,downstream_gene_variant,,ENST00000507000,;GNB2L1,downstream_gene_variant,,ENST00000510199,;GNB2L1,downstream_gene_variant,,ENST00000512805,;CTC-338M12.7,upstream_gene_variant,,ENST00000499096,;TRIM41,non_coding_transcript_exon_variant,,ENST00000510072,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;TRIM41,intron_variant,,ENST00000503114,;TRIM41,intron_variant,,ENST00000514219,;GNB2L1,downstream_gene_variant,,ENST00000514183,;GNB2L1,downstream_gene_variant,,ENST00000507273,;GNB2L1,downstream_gene_variant,,ENST00000508682,;GNB2L1,downstream_gene_variant,,ENST00000503494,;GNB2L1,downstream_gene_variant,,ENST00000504325,;GNB2L1,downstream_gene_variant,,ENST00000502548,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000508044,;GNB2L1,downstream_gene_variant,,ENST00000506312,;GNB2L1,downstream_gene_variant,,ENST00000513060,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000502890,;GNB2L1,downstream_gene_variant,,ENST00000511473,;	2553	70	45	SUCCESS
IRX4	50805	.	GRCh37	5	1878691	1878691	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	12	0	ENST00000231357.2:c.952G>T	p.Glu318Ter	p.E318*	ENST00000231357	NM_016358.2	318	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS3867.1	952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTCGTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,stop_gained,p.Glu318Ter,ENST00000231357,;IRX4,stop_gained,p.Glu318Ter,ENST00000513692,;IRX4,stop_gained,p.Glu318Ter,ENST00000505790,;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	1409	12	14	SUCCESS
CDH6	1004	.	GRCh37	5	31313451	31313451	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	40	145	0	ENST00000265071.2:c.1280T>C	p.Met427Thr	p.M427T	ENST00000265071	NM_004932.3	427	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS3894.1	1280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATATGGACA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000265071	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.237)	.	tolerated(0.23)	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,missense_variant,p.Met372Thr,ENST00000514738,;CDH6,missense_variant,p.Met427Thr,ENST00000265071,;CDH6,upstream_gene_variant,,ENST00000504835,;	1545	145	114	SUCCESS
TTC23L	153657	.	GRCh37	5	34880306	34880306	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs528367394	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	88	174	0	ENST00000505624.1:c.970A>G	p.Ile324Val	p.I324V	ENST00000505624	NM_144725.3	324	Ata/Gta	0	.	G:0	.	G:0	.	G	I/V	protein_coding	YES	CCDS54840.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCATAAGA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR14485:SF1,hmmpanther:PTHR14485	G:0	.	ENSP00000422188	G:0	9/11	.	.	.	.	.	.	.	.	rs528367394	9/11	PASS	ENST00000505624	Transcript	.	G:0.0010	ENSG00000205838	26355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	G:0.0051	tolerated(0.49)	.	TT23L_HUMAN	TTC23L	HGNC	.	.	UPI000013F897	SNV	TTC23L,missense_variant,p.Ile324Val,ENST00000505624,;TTC23L,non_coding_transcript_exon_variant,,ENST00000514080,;TTC23L,synonymous_variant,p.%3D,ENST00000502674,;RPL21P54,upstream_gene_variant,,ENST00000497178,;	1073	174	187	SUCCESS
SPEF2	79925	.	GRCh37	5	35618067	35618067	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs549651889	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	95	0	ENST00000356031.3:c.-33C>A		p.*11*	ENST00000356031	NM_024867.3			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS43309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGCCCCCG	NONE	by1000G	.	.	T:0.001	.	ENSP00000348314	T:0	1/37	.	.	.	.	.	.	.	.	rs549651889	1/37	PASS	ENST00000356031	Transcript	.	T:0.0002	ENSG00000152582	26293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,5_prime_UTR_variant,,ENST00000510777,;SPEF2,5_prime_UTR_variant,,ENST00000509059,;SPEF2,5_prime_UTR_variant,,ENST00000282469,;SPEF2,5_prime_UTR_variant,,ENST00000356031,;SPEF2,upstream_gene_variant,,ENST00000440995,;SPEF2,5_prime_UTR_variant,,ENST00000505847,;SPEF2,non_coding_transcript_exon_variant,,ENST00000505088,;	122	95	90	SUCCESS
SPEF2	79925	.	GRCh37	5	35709050	35709050	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	75	225	0	ENST00000356031.3:c.2666T>A	p.Val889Asp	p.V889D	ENST00000356031	NM_024867.3	889	gTt/gAt	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS43309.1	2666	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGTTGAGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0	.	.	ENSP00000348314	.	19/37	.	.	.	.	.	.	.	.	COSM3615661	19/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.467)	.	tolerated(0.29)	1	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,missense_variant,p.Val884Asp,ENST00000440995,;SPEF2,missense_variant,p.Val884Asp,ENST00000509059,;SPEF2,missense_variant,p.Val889Asp,ENST00000356031,;SPEF2,downstream_gene_variant,,ENST00000504054,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,splice_region_variant,,ENST00000503074,;SPEF2,downstream_gene_variant,,ENST00000508817,;	2820	225	200	SUCCESS
MROH2B	133558	.	GRCh37	5	41058297	41058297	+	synonymous_variant	Silent	SNP	G	G	A	rs779723416	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	48	0	ENST00000399564.4:c.624C>T	p.Ser208=	p.S208=	ENST00000399564	NM_173489.4	208	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47202.1	624	RADIA|VARSCANS	.	ACGATGCTCAA	NONE	.	.	hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15	.	.	ENSP00000382476	.	7/42	.	.	.	.	.	.	.	.	rs779723416,COSM1319195	7/42	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,synonymous_variant,p.%3D,ENST00000399564,;MROH2B,5_prime_UTR_variant,,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	1075	48	39	SUCCESS
C6	729	.	GRCh37	5	41143008	41143008	+	synonymous_variant	Silent	SNP	T	T	A	rs1275390707	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	84	0	ENST00000263413.3:c.2724A>T	p.Thr908=	p.T908=	ENST00000263413	NM_001115131.2	908	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3936.1	2724	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATGTTTT	NONE	.	.	SMART_domains:SM00057,PROSITE_profiles:PS51465	.	.	ENSP00000263413	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000263413	Transcript	1	.	ENSG00000039537	1339	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO6_HUMAN	C6	HGNC	C9JX36_HUMAN,C9JC72_HUMAN	.	UPI000013D401	SNV	C6,synonymous_variant,p.%3D,ENST00000263413,;C6,synonymous_variant,p.%3D,ENST00000337836,;	2989	84	78	SUCCESS
ITGA2	3673	.	GRCh37	5	52369005	52369005	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	73	1	ENST00000296585.5:c.2487G>A	p.Leu829=	p.L829=	ENST00000296585	NM_002203.3	829	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3957.1	2487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTGAAAAA	NONE	.	.	Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23	.	.	ENSP00000296585	.	20/30	.	.	.	.	.	.	.	.	COSM1068645,COSM1595422	20/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,synonymous_variant,p.%3D,ENST00000296585,;ITGA2,synonymous_variant,p.%3D,ENST00000510722,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,intron_variant,,ENST00000509814,;	2630	74	77	SUCCESS
ESM1	11082	.	GRCh37	5	54281099	54281099	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	45	112	0	ENST00000381405.4:c.247T>G	p.Cys83Gly	p.C83G	ENST00000381405	NM_007036.4	83	Tgt/Ggt	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS3963.1	247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACACCTCA	NONE	.	.	PROSITE_profiles:PS51323,hmmpanther:PTHR15428,Pfam_domain:PF00219,SMART_domains:SM00121,Superfamily_domains:SSF57184	.	.	ENSP00000370812	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381405	Transcript	.	.	ENSG00000164283	3466	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ESM1_HUMAN	ESM1	HGNC	M0R154_HUMAN	.	UPI000012A1BA	SNV	ESM1,missense_variant,p.Cys83Gly,ENST00000601836,;ESM1,missense_variant,p.Cys83Gly,ENST00000381403,;ESM1,missense_variant,p.Cys83Gly,ENST00000381405,;ESM1,intron_variant,,ENST00000598310,;	393	113	79	SUCCESS
PPAP2A	0	.	GRCh37	5	54763943	54763943	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	69	0	ENST00000307259.8:c.245A>T	p.Asn82Ile	p.N82I	ENST00000307259	NM_003711.3	82	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS34160.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTTACAG	NONE	.	.	hmmpanther:PTHR10165:SF26,hmmpanther:PTHR10165,Superfamily_domains:SSF48317	.	.	ENSP00000264775	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000264775	Transcript	.	.	ENSG00000067113	9228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.715)	.	tolerated(0.19)	.	LPP1_HUMAN	PPAP2A	HGNC	.	.	UPI0000150635	SNV	PPAP2A,missense_variant,p.Asn83Ile,ENST00000264775,;PPAP2A,missense_variant,p.Asn82Ile,ENST00000307259,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000515132,;PPAP2A,3_prime_UTR_variant,,ENST00000509667,;PPAP2A,non_coding_transcript_exon_variant,,ENST00000520263,;	588	69	54	SUCCESS
PLK2	10769	.	GRCh37	5	57750786	57750786	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	47	147	0	ENST00000274289.3:c.1818A>T	p.Leu606=	p.L606=	ENST00000274289	NM_006622.3	606	ctA/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS3974.1	1818	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTTAGCCA	NONE	.	.	PROSITE_profiles:PS50078,hmmpanther:PTHR24345:SF44,hmmpanther:PTHR24345,Gene3D:3.30.1120.30,Superfamily_domains:SSF82615	.	.	ENSP00000274289	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000274289	Transcript	.	.	ENSG00000145632	19699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLK2_HUMAN	PLK2	HGNC	.	.	UPI0000135B35	SNV	PLK2,synonymous_variant,p.%3D,ENST00000274289,;PLK2,intron_variant,,ENST00000502671,;PLK2,non_coding_transcript_exon_variant,,ENST00000511326,;PLK2,downstream_gene_variant,,ENST00000509422,;PLK2,downstream_gene_variant,,ENST00000505244,;PLK2,downstream_gene_variant,,ENST00000514306,;PLK2,downstream_gene_variant,,ENST00000503115,;PLK2,downstream_gene_variant,,ENST00000515415,;PLK2,downstream_gene_variant,,ENST00000504196,;PLK2,downstream_gene_variant,,ENST00000509555,;PLK2,downstream_gene_variant,,ENST00000503378,;PLK2,downstream_gene_variant,,ENST00000508300,;PLK2,downstream_gene_variant,,ENST00000510629,;PLK2,downstream_gene_variant,,ENST00000503713,;	2119	147	112	SUCCESS
IPO11	51194	.	GRCh37	5	61811284	61811284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	90	0	ENST00000325324.6:c.1852A>G	p.Met618Val	p.M618V	ENST00000325324	NM_016338.4	618	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS47217.1	1972	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATATGTTG	NONE	.	.	hmmpanther:PTHR10997:SF7,hmmpanther:PTHR10997,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000386992	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000409296	Transcript	.	.	ENSG00000086200	20628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.204)	.	deleterious(0)	.	IPO11_HUMAN	IPO11	HGNC	E7EMB7_HUMAN,D6RJB1_HUMAN,D6RCQ2_HUMAN,D6RCN7_HUMAN	.	UPI00017EE9F4	SNV	IPO11,missense_variant,p.Met658Val,ENST00000409296,;IPO11,missense_variant,p.Met618Val,ENST00000325324,;IPO11,upstream_gene_variant,,ENST00000511713,;CKS1B,upstream_gene_variant,,ENST00000600888,;KIF2A,non_coding_transcript_exon_variant,,ENST00000509663,;IPO11,missense_variant,p.Met618Val,ENST00000424533,;IPO11,non_coding_transcript_exon_variant,,ENST00000502862,;	2102	90	70	SUCCESS
CTD-2324F15.2	0	.	GRCh37	5	6312538	6312538	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	85	0	ENST00000507444.1:n.435A>T		p.*145*	ENST00000507444				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTGGCAG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000507444	Transcript	.	.	ENSG00000250490	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2324F15.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2324F15.2,non_coding_transcript_exon_variant,,ENST00000507444,;	435	85	69	SUCCESS
SLC30A5	64924	.	GRCh37	5	68423913	68423913	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	66	0	ENST00000396591.3:c.2081A>G	p.His694Arg	p.H694R	ENST00000396591	NM_022902.4	694	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS3996.1	2081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCATATAC	NONE	.	.	hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF24,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297	.	.	ENSP00000379836	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000396591	Transcript	.	.	ENSG00000145740	19089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.01)	.	ZNT5_HUMAN	SLC30A5	HGNC	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN	.	UPI0000073958	SNV	SLC30A5,missense_variant,p.His694Arg,ENST00000396591,;SLC30A5,intron_variant,,ENST00000511158,;CTC-498J12.3,non_coding_transcript_exon_variant,,ENST00000504129,;SLC30A5,downstream_gene_variant,,ENST00000513937,;SLC30A5,downstream_gene_variant,,ENST00000507354,;	2691	66	60	SUCCESS
MAP1B	4131	.	GRCh37	5	71494454	71494454	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	59	0	ENST00000296755.7:c.5272G>C	p.Asp1758His	p.D1758H	ENST00000296755	NM_005909.3	1758	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS4012.1	5272	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGAGATATG	NONE	.	.	hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	.	.	ENSP00000296755	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000296755	Transcript	.	.	ENSG00000131711	6836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.976)	.	.	.	MAP1B_HUMAN	MAP1B	HGNC	D6RGJ3_HUMAN,D6RA40_HUMAN	.	UPI000013E382	SNV	MAP1B,missense_variant,p.Asp1758His,ENST00000296755,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000513526,;	5570	59	44	SUCCESS
ADCY2	108	.	GRCh37	5	7817092	7817092	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	159	0	ENST00000338316.4:c.2997G>C		p.X999_splice	ENST00000338316	NM_020546.2	999	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS3872.2	2997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGTGGGTAC	NONE	.	.	Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,PROSITE_profiles:PS50125	.	.	ENSP00000342952	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000338316	Transcript	.	.	ENSG00000078295	233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY2_HUMAN	ADCY2	HGNC	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN	.	UPI000066D9F2	SNV	ADCY2,synonymous_variant,p.%3D,ENST00000338316,;ADCY2,synonymous_variant,p.%3D,ENST00000537121,;ADCY2,downstream_gene_variant,,ENST00000382531,;ADCY2,splice_region_variant,,ENST00000489501,;ADCY2,splice_region_variant,,ENST00000493243,;	3086	159	94	SUCCESS
JMY	133746	.	GRCh37	5	78532433	78532433	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs541199037	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	9	0	ENST00000396137.4:c.-41G>A		p.*14*	ENST00000396137	NM_152405.4			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS4047.3	.	MUTECT|MUSE	.	GGGCCGGGCCG	NONE	by1000G	.	.	A:0	.	ENSP00000379441	A:0	1/11	.	.	.	.	.	.	.	.	rs541199037	1/11	PASS	ENST00000396137	Transcript	.	A:0.0002	ENSG00000152409	28916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	JMY_HUMAN	JMY	HGNC	.	.	UPI0000E5AC67	SNV	JMY,5_prime_UTR_variant,,ENST00000396137,;DMGDH,upstream_gene_variant,,ENST00000520855,;DMGDH,upstream_gene_variant,,ENST00000518707,;DMGDH,upstream_gene_variant,,ENST00000520388,;	422	9	8	SUCCESS
MTRR	4552	.	GRCh37	5	7878172	7878172	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	67	0	ENST00000264668.2:c.598G>T	p.Ala200Ser	p.A200S	ENST00000264668	NM_024010.2	200	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS3874.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTGCATCC	NONE	.	.	hmmpanther:PTHR19384:SF65,hmmpanther:PTHR19384	.	.	ENSP00000264668	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000264668	Transcript	1	.	ENSG00000124275	7473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.69)	.	MTRR_HUMAN	MTRR	HGNC	D6RIS8_HUMAN,D6RGC7_HUMAN,D6RAZ2_HUMAN	.	UPI000013D550	SNV	MTRR,missense_variant,p.Ala102Ser,ENST00000514220,;MTRR,missense_variant,p.Ala173Ser,ENST00000440940,;MTRR,missense_variant,p.Ala200Ser,ENST00000264668,;MTRR,3_prime_UTR_variant,,ENST00000341013,;MTRR,downstream_gene_variant,,ENST00000502550,;MTRR,downstream_gene_variant,,ENST00000512217,;MTRR,downstream_gene_variant,,ENST00000502509,;MTRR,missense_variant,p.Ala182Ser,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000510279,;MTRR,3_prime_UTR_variant,,ENST00000514369,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,non_coding_transcript_exon_variant,,ENST00000508890,;MTRR,downstream_gene_variant,,ENST00000503550,;MTRR,downstream_gene_variant,,ENST00000508047,;	628	67	37	SUCCESS
RASGRF2	5924	.	GRCh37	5	80363997	80363997	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	40	76	0	ENST00000265080.4:c.542A>T	p.Glu181Val	p.E181V	ENST00000265080	NM_006909.2	181	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS4052.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGAGGTAT	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000265080	.	3/27	.	.	.	.	.	.	.	.	.	3/27	PASS	ENST00000265080	Transcript	.	.	ENSG00000113319	9876	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.939)	.	deleterious(0)	.	RGRF2_HUMAN	RASGRF2	HGNC	Q68DX5_HUMAN	.	UPI0000047ABF	SNV	RASGRF2,missense_variant,p.Glu181Val,ENST00000265080,;RASGRF2,splice_region_variant,,ENST00000514946,;RASGRF2,upstream_gene_variant,,ENST00000502677,;RASGRF2,missense_variant,p.Glu181Val,ENST00000503795,;	609	76	58	SUCCESS
XRCC4	7518	.	GRCh37	5	82491711	82491711	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	27	46	0	ENST00000338635.6:c.438A>T	p.Lys146Asn	p.K146N	ENST00000338635		146	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS4059.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAAGAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06632,Gene3D:1.20.5.370,Superfamily_domains:SSF58022	.	.	ENSP00000421491	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000511817	Transcript	1	.	ENSG00000152422	12831	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	XRCC4_HUMAN	XRCC4	HGNC	.	.	UPI000006DF4E	SNV	XRCC4,missense_variant,p.Lys146Asn,ENST00000338635,;XRCC4,missense_variant,p.Lys146Asn,ENST00000511817,;XRCC4,missense_variant,p.Lys146Asn,ENST00000282268,;XRCC4,missense_variant,p.Lys146Asn,ENST00000396027,;XRCC4,non_coding_transcript_exon_variant,,ENST00000509268,;XRCC4,non_coding_transcript_exon_variant,,ENST00000542685,;	518	46	41	SUCCESS
BRD9	65980	.	GRCh37	5	878542	878542	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	57	0	ENST00000467963.1:c.1199A>T	p.Asp400Val	p.D400V	ENST00000467963	NM_023924.4	400	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS34127.2	1199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGTCGCCA	NONE	.	.	Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4	.	.	ENSP00000419765	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000467963	Transcript	.	.	ENSG00000028310	25818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	deleterious(0)	.	BRD9_HUMAN	BRD9	HGNC	.	.	UPI000020BEBE	SNV	BRD9,missense_variant,p.Asp400Val,ENST00000467963,;BRD9,missense_variant,p.Asp304Val,ENST00000323510,;BRD9,missense_variant,p.Asp284Val,ENST00000388890,;BRD9,missense_variant,p.Asp347Val,ENST00000483173,;BRD9,3_prime_UTR_variant,,ENST00000435709,;BRD9,non_coding_transcript_exon_variant,,ENST00000494422,;BRD9,non_coding_transcript_exon_variant,,ENST00000519838,;BRD9,missense_variant,p.Asp21Val,ENST00000519112,;BRD9,missense_variant,p.Asp5Val,ENST00000518251,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,3_prime_UTR_variant,,ENST00000466684,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,non_coding_transcript_exon_variant,,ENST00000493082,;BRD9,non_coding_transcript_exon_variant,,ENST00000483234,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;BRD9,non_coding_transcript_exon_variant,,ENST00000475706,;BRD9,upstream_gene_variant,,ENST00000523139,;	1366	57	48	SUCCESS
GPR98	0	.	GRCh37	5	90055290	90055290	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757610485	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	101	0	ENST00000405460.2:c.12005A>G	p.Asn4002Ser	p.N4002S	ENST00000405460	NM_032119.3	4002	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS47246.1	12005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCAATATTT	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	58/90	.	.	.	.	.	.	.	.	rs757610485	58/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Asn4002Ser,ENST00000405460,;GPR98,missense_variant,p.Asn1568Ser,ENST00000509621,;	12101	101	64	SUCCESS
GPR98	0	.	GRCh37	5	90059134	90059134	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	49	0	ENST00000405460.2:c.12133G>A	p.Glu4045Lys	p.E4045K	ENST00000405460	NM_032119.3	4045	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS47246.1	12133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGAATCC	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	59/90	.	.	.	.	.	.	.	.	.	59/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.874)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Glu4045Lys,ENST00000405460,;GPR98,downstream_gene_variant,,ENST00000509621,;	12229	49	25	SUCCESS
GPR98	0	.	GRCh37	5	90077396	90077396	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	57	245	0	ENST00000405460.2:c.13231+1G>T		p.X4411_splice	ENST00000405460	NM_032119.3	4411		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47246.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGGTAGGT	NONE	.	.	.	.	.	ENSP00000384582	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	HIGH	65/89	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,splice_donor_variant,,ENST00000405460,;GPR98,splice_donor_variant,,ENST00000425867,;	.	245	172	SUCCESS
TRIP13	9319	.	GRCh37	5	901481	901481	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	rs375761713	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	120	0	ENST00000166345.3:c.470T>G	p.Leu157Ter	p.L157*	ENST00000166345	NM_004237.3	157	tTa/tGa	0	C:0	.	.	.	.	G	L/*	protein_coding	YES	CCDS3858.1	470	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTTACTGT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23077	.	C:0.0001	ENSP00000166345	.	5/13	.	.	.	.	.	.	.	.	rs375761713	5/13	PASS	ENST00000166345	Transcript	.	.	ENSG00000071539	12307	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCH2_HUMAN	TRIP13	HGNC	.	.	UPI0000048D6C	SNV	TRIP13,stop_gained,p.Leu157Ter,ENST00000166345,;TRIP13,stop_gained,p.Leu153Ter,ENST00000513435,;TRIP13,downstream_gene_variant,,ENST00000508456,;TRIP13,non_coding_transcript_exon_variant,,ENST00000512024,;	826	120	71	SUCCESS
ASCC3	10973	.	GRCh37	6	101173567	101173567	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	11	83	1	ENST00000369162.2:c.1750A>C	p.Thr584Pro	p.T584P	ENST00000369162	NM_006828.2	584	Aca/Cca	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS5046.1	1750	MUTECT|MUSE	.	TGGTGTGGTCA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000358159	.	11/42	.	.	.	.	.	.	.	.	.	11/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.977)	.	deleterious(0)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Thr584Pro,ENST00000369162,;ASCC3,missense_variant,p.Thr584Pro,ENST00000522650,;ASCC3,3_prime_UTR_variant,,ENST00000324696,;	2095	84	82	SUCCESS
TFAP2A-AS1	100130275	.	GRCh37	6	10415374	10415374	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	G	rs563924766	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	12	0	ENST00000420777.1:n.429+90A>G		p.*143*	ENST00000420777				0	.	T:0.0038	.	T:0.0014	.	G	.	protein_coding	YES	CCDS4510.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGAGGAGG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000368924	T:0	1/7	.	.	.	.	.	.	.	.	rs563924766	1/7	PASS	ENST00000379604	Transcript	.	T:0.0012	ENSG00000137203	11742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	AP2A_HUMAN	TFAP2A	HGNC	.	.	UPI0000125BC5	SNV	TFAP2A,5_prime_UTR_variant,,ENST00000379613,;TFAP2A,5_prime_UTR_variant,,ENST00000379604,;TFAP2A,intron_variant,,ENST00000482890,;TFAP2A,intron_variant,,ENST00000319516,;TFAP2A,upstream_gene_variant,,ENST00000498450,;TFAP2A,upstream_gene_variant,,ENST00000465858,;TFAP2A,upstream_gene_variant,,ENST00000379608,;TFAP2A,upstream_gene_variant,,ENST00000466073,;TFAP2A-AS1,intron_variant,,ENST00000420777,;TFAP2A-AS1,intron_variant,,ENST00000443546,;TFAP2A,intron_variant,,ENST00000473652,;TFAP2A,intron_variant,,ENST00000490875,;TFAP2A,upstream_gene_variant,,ENST00000462727,;TFAP2A,downstream_gene_variant,,ENST00000486038,;TFAP2A,upstream_gene_variant,,ENST00000497266,;TFAP2A,5_prime_UTR_variant,,ENST00000488193,;TFAP2A,intron_variant,,ENST00000464323,;TFAP2A,upstream_gene_variant,,ENST00000478375,;TFAP2A,upstream_gene_variant,,ENST00000489805,;TFAP2A,upstream_gene_variant,,ENST00000474952,;	97	12	23	SUCCESS
BVES	11149	.	GRCh37	6	105572512	105572512	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	40	0	ENST00000314641.5:c.558A>T	p.Arg186=	p.R186=	ENST00000314641	NM_001199563.1	186	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5051.1	558	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCTCGATA	NONE	.	.	Superfamily_domains:SSF51206,Pfam_domain:PF04831,Gene3D:2.60.120.10,hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101	.	.	ENSP00000313172	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,synonymous_variant,p.%3D,ENST00000336775,;BVES,synonymous_variant,p.%3D,ENST00000446408,;BVES,synonymous_variant,p.%3D,ENST00000314641,;	775	40	28	SUCCESS
BEND3	57673	.	GRCh37	6	107390413	107390413	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	55	0	ENST00000369042.1:c.1982A>G	p.His661Arg	p.H661R	ENST00000369042		661	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS34507.1	1982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGTGGACC	NONE	.	.	.	.	.	ENSP00000411268	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000429433	Transcript	.	.	ENSG00000178409	23040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.451)	.	tolerated(0.29)	.	BEND3_HUMAN	BEND3	HGNC	.	.	UPI00001D80D7	SNV	BEND3,missense_variant,p.His661Arg,ENST00000429433,;BEND3,missense_variant,p.His661Arg,ENST00000369042,;	2632	55	44	SUCCESS
CDC40	51362	.	GRCh37	6	110522886	110522886	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	70	0	ENST00000307731.1:c.402A>G	p.Thr134=	p.T134=	ENST00000307731	NM_015891.2	134	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS5081.1	402	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACATATGG	NONE	.	.	hmmpanther:PTHR19852	.	.	ENSP00000357928	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000368932	Transcript	.	.	ENSG00000168438	17350	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP17_HUMAN	CDC40	HGNC	Q5SRM9_HUMAN	.	UPI0000132145	SNV	CDC40,synonymous_variant,p.%3D,ENST00000307731,;CDC40,synonymous_variant,p.%3D,ENST00000368932,;CDC40,synonymous_variant,p.%3D,ENST00000368930,;CDC40,non_coding_transcript_exon_variant,,ENST00000453107,;CDC40,non_coding_transcript_exon_variant,,ENST00000431461,;CDC40,non_coding_transcript_exon_variant,,ENST00000606893,;	503	70	49	SUCCESS
KIAA1919	0	.	GRCh37	6	111587672	111587672	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs763232482	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	108	0	ENST00000368847.4:c.907A>G	p.Ile303Val	p.I303V	ENST00000368847	NM_153369.2	303	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5090.1	907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACATTGGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23121:SF12,hmmpanther:PTHR23121,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000357840	.	4/4	.	.	.	.	.	.	.	.	rs763232482	4/4	PASS	ENST00000368847	Transcript	.	.	ENSG00000173214	21053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.77)	.	NAGT1_HUMAN	KIAA1919	HGNC	.	.	UPI000013EF89	SNV	KIAA1919,missense_variant,p.Ile303Val,ENST00000368847,;	1260	108	85	SUCCESS
KIAA1919	0	.	GRCh37	6	111587712	111587712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	96	1	ENST00000368847.4:c.947A>G	p.Asp316Gly	p.D316G	ENST00000368847	NM_153369.2	316	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5090.1	947	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGACAAGA	NONE	.	.	hmmpanther:PTHR23121:SF12,hmmpanther:PTHR23121,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000357840	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368847	Transcript	.	.	ENSG00000173214	21053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.11)	.	tolerated(0.07)	.	NAGT1_HUMAN	KIAA1919	HGNC	.	.	UPI000013EF89	SNV	KIAA1919,missense_variant,p.Asp316Gly,ENST00000368847,;	1300	97	76	SUCCESS
RFPL4B	442247	.	GRCh37	6	112671556	112671556	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	23	40	0	ENST00000441065.2:c.646del	p.Glu216LysfsTer44	p.E216Kfs*44	ENST00000441065	NM_001013734.2	216	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS34515.1	646	INDELOCATOR*|VARSCANI*|PINDEL	.	GACTTAGAAGAA	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR25462:SF216,hmmpanther:PTHR25462,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000423391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441065	Transcript	.	.	ENSG00000251258	33264	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RFPLB_HUMAN	RFPL4B	HGNC	.	.	UPI00001972F0	deletion	RFPL4B,frameshift_variant,p.Glu216LysfsTer44,ENST00000441065,;RP11-506B6.6,downstream_gene_variant,,ENST00000585611,;RP11-506B6.6,downstream_gene_variant,,ENST00000590673,;RP11-506B6.6,downstream_gene_variant,,ENST00000587816,;	958	40	69	SUCCESS
DSE	29940	.	GRCh37	6	116747748	116747748	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs775498800	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	46	0	ENST00000331677.3:c.428A>G	p.Asp143Gly	p.D143G	ENST00000331677		143	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5107.1	428	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGATGCTC	NONE	byFrequency	.	hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532,Superfamily_domains:SSF48230	.	.	ENSP00000332151	.	4/7	.	.	.	.	.	.	.	.	rs775498800	4/7	PASS	ENST00000331677	Transcript	.	.	ENSG00000111817	21144	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	tolerated(0.1)	.	DSE_HUMAN	DSE	HGNC	B3KY37_HUMAN	.	UPI0000073CB8	SNV	DSE,missense_variant,p.Asp143Gly,ENST00000452085,;DSE,missense_variant,p.Asp143Gly,ENST00000430252,;DSE,missense_variant,p.Asp143Gly,ENST00000331677,;DSE,missense_variant,p.Asp162Gly,ENST00000537543,;DSE,missense_variant,p.Asp143Gly,ENST00000359564,;DSE,3_prime_UTR_variant,,ENST00000540275,;DSE,non_coding_transcript_exon_variant,,ENST00000606265,;	872	46	31	SUCCESS
ZUFSP	0	.	GRCh37	6	116973312	116973312	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	93	0	ENST00000368576.3:c.1005A>T	p.Thr335=	p.T335=	ENST00000368576	NM_145062.2	335	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5110.1	1005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTGTGGC	NONE	.	.	hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF27	.	.	ENSP00000357565	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000368576	Transcript	.	.	ENSG00000153975	21224	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZUFSP_HUMAN	ZUFSP	HGNC	.	.	UPI000006E8C6	SNV	ZUFSP,missense_variant,p.Gln279Leu,ENST00000368573,;ZUFSP,synonymous_variant,p.%3D,ENST00000368576,;ZUFSP,non_coding_transcript_exon_variant,,ENST00000471919,;	1249	93	71	SUCCESS
KPNA5	3841	.	GRCh37	6	117047735	117047735	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	62	198	0	ENST00000356348.1:c.1203A>T	p.Ala401=	p.A401=	ENST00000356348	NM_002269.2	401	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5111.1	1203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCAGCTTG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10	.	.	ENSP00000357552	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000368564	Transcript	.	.	ENSG00000196911	6398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMA6_HUMAN	KPNA5	HGNC	Q5TD90_HUMAN	.	UPI000000DBE6	SNV	KPNA5,synonymous_variant,p.%3D,ENST00000356348,;KPNA5,synonymous_variant,p.%3D,ENST00000368564,;KPNA5,upstream_gene_variant,,ENST00000392517,;	1351	198	127	SUCCESS
GPRC6A	222545	.	GRCh37	6	117114124	117114124	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	43	112	0	ENST00000310357.3:c.1962A>T	p.Pro654=	p.P654=	ENST00000310357	NM_148963.2	654	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5112.1	1962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGTGGTTC	NONE	.	.	PROSITE_profiles:PS50259,hmmpanther:PTHR24061:SF5,hmmpanther:PTHR24061,Pfam_domain:PF00003	.	.	ENSP00000309493	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000310357	Transcript	.	.	ENSG00000173612	18510	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPC6A_HUMAN	GPRC6A	HGNC	.	.	UPI000013EFF9	SNV	GPRC6A,synonymous_variant,p.%3D,ENST00000310357,;GPRC6A,synonymous_variant,p.%3D,ENST00000368549,;GPRC6A,synonymous_variant,p.%3D,ENST00000530250,;	1984	112	82	SUCCESS
ROS1	6098	.	GRCh37	6	117609770	117609770	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	50	139	0	ENST00000368508.3:c.6929A>C	p.His2310Pro	p.H2310P	ENST00000368508	NM_002944.2	2310	cAt/cCt	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS5116.1	6929	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATGTGGT	NONE	.	.	hmmpanther:PTHR24416:SF304,hmmpanther:PTHR24416	.	.	ENSP00000357494	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000368508	Transcript	.	.	ENSG00000047936	10261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.06)	.	ROS1_HUMAN	ROS1	HGNC	.	.	UPI000013D467	SNV	ROS1,missense_variant,p.His2304Pro,ENST00000368507,;ROS1,missense_variant,p.His2310Pro,ENST00000368508,;	7128	139	110	SUCCESS
TBC1D32	221322	.	GRCh37	6	121447529	121447529	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759423143	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	25	58	0	ENST00000398212.2:c.2978A>G	p.Tyr993Cys	p.Y993C	ENST00000398212	NM_152730.4	993	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS43501.1	2978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTATACTCC	NONE	byFrequency	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	26/32	.	.	.	.	.	.	.	.	rs759423143	26/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0.01)	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,missense_variant,p.Tyr993Cys,ENST00000398212,;TBC1D32,missense_variant,p.Tyr1034Cys,ENST00000275159,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,downstream_gene_variant,,ENST00000523345,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,3_prime_UTR_variant,,ENST00000509492,;	3028	58	44	SUCCESS
TBC1D32	221322	.	GRCh37	6	121563461	121563461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	55	0	ENST00000398212.2:c.2043A>T	p.Leu681Phe	p.L681F	ENST00000398212	NM_152730.4	681	ttA/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS43501.1	2043	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTAACAA	NONE	.	.	hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	.	.	ENSP00000381270	.	18/32	.	.	.	.	.	.	.	.	.	18/32	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,missense_variant,p.Leu681Phe,ENST00000398212,;TBC1D32,missense_variant,p.Leu681Phe,ENST00000275159,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	2093	56	57	SUCCESS
PHACTR1	221692	.	GRCh37	6	12749960	12749960	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs777712354	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	33	0	ENST00000332995.7:c.188T>A	p.Val63Glu	p.V63E	ENST00000332995		63	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	.	188	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGTGCGCT	NONE	.	.	hmmpanther:PTHR12751,Low_complexity_(Seg):seg	.	.	ENSP00000368653	.	3/4	.	.	.	.	.	.	.	.	rs777712354	3/4	PASS	ENST00000379348	Transcript	.	.	ENSG00000112137	20990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious_low_confidence(0.01)	.	.	PHACTR1	HGNC	Q5R356_HUMAN	.	UPI000020D535	SNV	PHACTR1,missense_variant,p.Val63Glu,ENST00000379350,;PHACTR1,missense_variant,p.Val63Glu,ENST00000332995,;PHACTR1,missense_variant,p.Val99Glu,ENST00000406205,;PHACTR1,missense_variant,p.Val63Glu,ENST00000379348,;AL354680.1,upstream_gene_variant,,ENST00000411359,;	365	33	26	SUCCESS
SOGA3	387104	.	GRCh37	6	127837007	127837007	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	25	0	ENST00000481848.2:c.753A>T	p.Lys251Asn	p.K251N	ENST00000481848		251	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS43505.1	753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTTTCCA	NONE	.	.	hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2	.	.	ENSP00000451768	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000556132	Transcript	.	.	ENSG00000214338	21494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious_low_confidence(0)	.	SOGA3_HUMAN	SOGA3	HGNC	A5PLQ8_HUMAN	.	UPI0000419273	SNV	SOGA3,missense_variant,p.Lys251Asn,ENST00000525778,;SOGA3,missense_variant,p.Lys251Asn,ENST00000556132,;SOGA3,missense_variant,p.Lys251Asn,ENST00000465909,;SOGA3,missense_variant,p.Lys251Asn,ENST00000368268,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;SOGA3,missense_variant,p.Lys251Asn,ENST00000481848,;	1618	25	35	SUCCESS
THEMIS	387357	.	GRCh37	6	128150865	128150865	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	31	102	0	ENST00000368248.2:c.465A>C	p.Ala155=	p.A155=	ENST00000368248	NM_001010923.2	155	gcA/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS55056.1	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTTGCTAC	NONE	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1,Pfam_domain:PF12736	.	.	ENSP00000439594	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,synonymous_variant,p.%3D,ENST00000368250,;THEMIS,synonymous_variant,p.%3D,ENST00000368248,;THEMIS,synonymous_variant,p.%3D,ENST00000543064,;THEMIS,synonymous_variant,p.%3D,ENST00000537166,;THEMIS,intron_variant,,ENST00000434358,;	614	102	70	SUCCESS
LAMA2	3908	.	GRCh37	6	129498936	129498936	+	synonymous_variant	Silent	SNP	G	G	T	rs757589246	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	41	138	0	ENST00000421865.2:c.1392G>T	p.Pro464=	p.P464=	ENST00000421865	NM_001079823.1	464	ccG/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5138.1	1392	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCGGACTG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000400365	.	10/65	.	.	.	.	.	.	.	.	rs757589246	10/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,synonymous_variant,p.%3D,ENST00000421865,;	1441	138	99	SUCCESS
LAMA2	3908	.	GRCh37	6	129618940	129618940	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	77	0	ENST00000421865.2:c.2967T>A	p.Pro989=	p.P989=	ENST00000421865	NM_001079823.1	989	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5138.1	2967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGGAGT	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000400365	.	21/65	.	.	.	.	.	.	.	.	.	21/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,synonymous_variant,p.%3D,ENST00000421865,;	3016	77	46	SUCCESS
LAMA2	3908	.	GRCh37	6	129636779	129636779	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	82	0	ENST00000421865.2:c.3714A>T	p.Pro1238=	p.P1238=	ENST00000421865	NM_001079823.1	1238	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5138.1	3714	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGAACA	NONE	.	.	PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Pfam_domain:PF00052,SMART_domains:SM00281	.	.	ENSP00000400365	.	25/65	.	.	.	.	.	.	.	.	.	25/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,synonymous_variant,p.%3D,ENST00000421865,;	3763	82	69	SUCCESS
LAMA2	3908	.	GRCh37	6	129823895	129823895	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs202202014	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	94	0	ENST00000421865.2:c.8336A>T	p.Asp2779Val	p.D2779V	ENST00000421865	NM_001079823.1	2779	gAt/gTt	0	.	G:0	.	G:0	.	T	D/V	protein_coding	YES	CCDS5138.1	8336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGATGACA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	G:0.001	.	ENSP00000400365	G:0	59/65	.	.	.	.	.	.	.	.	rs202202014	59/65	PASS	ENST00000421865	Transcript	.	G:0.0002	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	G:0	deleterious(0)	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Asp2779Val,ENST00000421865,;LAMA2,downstream_gene_variant,,ENST00000498257,;	8385	94	72	SUCCESS
SAMD3	154075	.	GRCh37	6	130497042	130497042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	74	0	ENST00000368134.2:c.766A>G	p.Thr256Ala	p.T256A	ENST00000368134	NM_001258275.1	256	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34539.1	766	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTCTGGC	NONE	.	.	hmmpanther:PTHR12844:SF18,hmmpanther:PTHR12844	.	.	ENSP00000357116	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000368134	Transcript	.	.	ENSG00000164483	21574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.05)	.	SAMD3_HUMAN	SAMD3	HGNC	E9PS85_HUMAN	.	UPI000006DCE7	SNV	SAMD3,missense_variant,p.Thr254Ala,ENST00000532763,;SAMD3,missense_variant,p.Thr280Ala,ENST00000457563,;SAMD3,missense_variant,p.Thr256Ala,ENST00000437477,;SAMD3,missense_variant,p.Thr256Ala,ENST00000368134,;SAMD3,missense_variant,p.Thr256Ala,ENST00000439090,;SAMD3,non_coding_transcript_exon_variant,,ENST00000528422,;SAMD3,downstream_gene_variant,,ENST00000533296,;SAMD3,non_coding_transcript_exon_variant,,ENST00000526886,;	1375	74	68	SUCCESS
PHACTR1	221692	.	GRCh37	6	13160509	13160509	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	64	0	ENST00000332995.7:c.489T>C	p.Tyr163=	p.Y163=	ENST00000332995		163	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	.	.	489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTATGATAA	NONE	.	.	SMART_domains:SM00707,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF6,PROSITE_profiles:PS51073	.	.	ENSP00000368655	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000379350	Transcript	.	.	ENSG00000112137	20990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHAR1_HUMAN	PHACTR1	HGNC	.	.	UPI000020D534	SNV	PHACTR1,synonymous_variant,p.%3D,ENST00000379350,;PHACTR1,synonymous_variant,p.%3D,ENST00000332995,;PHACTR1,synonymous_variant,p.%3D,ENST00000434977,;PHACTR1,synonymous_variant,p.%3D,ENST00000406205,;PHACTR1,synonymous_variant,p.%3D,ENST00000379345,;PHACTR1,synonymous_variant,p.%3D,ENST00000457702,;PHACTR1,non_coding_transcript_exon_variant,,ENST00000482982,;	618	64	84	SUCCESS
SGK1	6446	.	GRCh37	6	134638546	134638546	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs557794340	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	131	0	ENST00000367858.5:c.53A>G	p.Gln18Arg	p.Q18R	ENST00000367858	NM_001143676.1	18	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS47476.1	53	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTGGAAG	NONE	.	.	.	.	.	ENSP00000356832	.	1/14	.	.	.	.	.	.	.	.	rs557794340	1/14	PASS	ENST00000367858	Transcript	.	.	ENSG00000118515	10810	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious_low_confidence(0)	.	SGK1_HUMAN	SGK1	HGNC	E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN	.	UPI000013CA0E	SNV	SGK1,missense_variant,p.Gln18Arg,ENST00000367858,;SGK1,missense_variant,p.Gln18Arg,ENST00000533224,;SGK1,missense_variant,p.Gln18Arg,ENST00000524929,;SGK1,intron_variant,,ENST00000461976,;	651	131	85	SUCCESS
BCLAF1	9774	.	GRCh37	6	136599666	136599666	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774404133	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	32	119	0	ENST00000531224.1:c.353G>A	p.Arg118Lys	p.R118K	ENST00000531224	NM_001077441.1	118	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS5177.1	353	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATCTTCTT	NONE	.	.	Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	.	.	ENSP00000435210	.	4/13	.	.	.	.	.	.	.	.	rs774404133,COSM483447	4/13	PASS	ENST00000531224	Transcript	.	.	ENSG00000029363	16863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	0,1	BCLF1_HUMAN	BCLAF1	HGNC	B0AZU3_HUMAN	.	UPI000006FCE7	SNV	BCLAF1,missense_variant,p.Arg116Lys,ENST00000392348,;BCLAF1,missense_variant,p.Arg118Lys,ENST00000529826,;BCLAF1,missense_variant,p.Arg116Lys,ENST00000353331,;BCLAF1,missense_variant,p.Arg118Lys,ENST00000531224,;BCLAF1,missense_variant,p.Arg118Lys,ENST00000530767,;BCLAF1,missense_variant,p.Arg118Lys,ENST00000527536,;BCLAF1,missense_variant,p.Arg116Lys,ENST00000527759,;BCLAF1,missense_variant,p.Arg116Lys,ENST00000534269,;BCLAF1,missense_variant,p.Arg118Lys,ENST00000527613,;BCLAF1,missense_variant,p.Arg116Lys,ENST00000530429,;BCLAF1,missense_variant,p.Arg118Lys,ENST00000532384,;BCLAF1,upstream_gene_variant,,ENST00000533621,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	606	119	130	SUCCESS
SLC35D3	340146	.	GRCh37	6	137245642	137245642	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	48	0	ENST00000331858.4:c.1059T>A	p.Gly353=	p.G353=	ENST00000331858	NM_001008783.1	353	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS34544.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGTGGCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000333591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331858	Transcript	.	.	ENSG00000182747	15621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35D3_HUMAN	SLC35D3	HGNC	.	.	UPI00003673E9	SNV	SLC35D3,synonymous_variant,p.%3D,ENST00000331858,;	1224	48	36	SUCCESS
MCUR1	63933	.	GRCh37	6	13791091	13791091	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1244377375	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	80	176	0	ENST00000379170.4:c.1030A>G	p.Ile344Val	p.I344V	ENST00000379170	NM_001031713.3	344	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS35495.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATAGACC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14360:SF11,hmmpanther:PTHR14360,Pfam_domain:PF07798	.	.	ENSP00000368468	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000379170	Transcript	.	.	ENSG00000050393	21097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(1)	.	MCUR1_HUMAN	MCUR1	HGNC	.	.	UPI0000072AC6	SNV	MCUR1,missense_variant,p.Ile344Val,ENST00000379170,;MCUR1,intron_variant,,ENST00000607303,;MCUR1,3_prime_UTR_variant,,ENST00000488770,;	1169	176	193	SUCCESS
ECT2L	345930	.	GRCh37	6	139164260	139164260	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1207597984	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	64	0	ENST00000367682.2:c.487A>G	p.Thr163Ala	p.T163A	ENST00000367682	NM_001077706.2	163	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS43508.1	487	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTACTTAT	NONE	.	.	hmmpanther:PTHR12673:SF70,hmmpanther:PTHR12673	.	.	ENSP00000387388	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000423192	Transcript	.	.	ENSG00000203734	21118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.09)	.	ECT2L_HUMAN	ECT2L	HGNC	B7ZBI6_HUMAN	.	UPI0000E86804	SNV	ECT2L,missense_variant,p.Thr163Ala,ENST00000367682,;ECT2L,missense_variant,p.Thr94Ala,ENST00000541398,;ECT2L,missense_variant,p.Thr163Ala,ENST00000423192,;ECT2L,downstream_gene_variant,,ENST00000401414,;	648	64	62	SUCCESS
HIVEP2	3097	.	GRCh37	6	143095904	143095904	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	58	0	ENST00000012134.2:c.-29A>T		p.*10*	ENST00000012134				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43510.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGTTCCCCT	NONE	.	.	.	.	.	ENSP00000356575	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367603	Transcript	.	.	ENSG00000010818	4921	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP2_HUMAN	HIVEP2	HGNC	B4DKE9_HUMAN	.	UPI00004708DD	SNV	HIVEP2,5_prime_UTR_variant,,ENST00000367603,;HIVEP2,5_prime_UTR_variant,,ENST00000012134,;HIVEP2,5_prime_UTR_variant,,ENST00000367604,;HIVEP2,downstream_gene_variant,,ENST00000474532,;	715	58	42	SUCCESS
SHPRH	257218	.	GRCh37	6	146276324	146276324	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	51	0	ENST00000275233.7:c.135A>T	p.Pro45=	p.P45=	ENST00000275233		45	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43513.2	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTGGGCA	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552	.	.	ENSP00000356475	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000367505	Transcript	.	.	ENSG00000146414	19336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHPRH_HUMAN	SHPRH	HGNC	.	.	UPI0000458A24	SNV	SHPRH,synonymous_variant,p.%3D,ENST00000275233,;SHPRH,synonymous_variant,p.%3D,ENST00000438092,;SHPRH,synonymous_variant,p.%3D,ENST00000367505,;SHPRH,synonymous_variant,p.%3D,ENST00000367503,;SHPRH,synonymous_variant,p.%3D,ENST00000519632,;SHPRH,synonymous_variant,p.%3D,ENST00000433355,;SHPRH,upstream_gene_variant,,ENST00000521977,;	400	51	34	SUCCESS
SASH1	23328	.	GRCh37	6	148848610	148848610	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	65	0	ENST00000367467.3:c.1306T>C	p.Tyr436His	p.Y436H	ENST00000367467	NM_015278.3	436	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS5212.1	1306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGTACAAA	NONE	.	.	hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301,Pfam_domain:PF12485	.	.	ENSP00000356437	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.1)	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,missense_variant,p.Tyr436His,ENST00000367467,;AL033378.1,upstream_gene_variant,,ENST00000411390,;	1781	65	47	SUCCESS
SASH1	23328	.	GRCh37	6	148864814	148864814	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	47	1	ENST00000367467.3:c.2210-2A>T		p.X737_splice	ENST00000367467	NM_015278.3	737		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5212.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAGGCAA	NONE	.	.	.	.	.	ENSP00000356437	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367467	Transcript	.	.	ENSG00000111961	19182	.	.	HIGH	17/19	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SASH1_HUMAN	SASH1	HGNC	.	.	UPI00003519AE	SNV	SASH1,splice_acceptor_variant,,ENST00000367467,;	.	48	42	SUCCESS
ZC3H12D	340152	.	GRCh37	6	149795738	149795738	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	31	0	ENST00000409806.3:c.-59A>C		p.*20*	ENST00000409806				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTGCAGA	NONE	.	.	.	.	.	ENSP00000386616	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000409806	Transcript	.	.	ENSG00000178199	21175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZC12D_HUMAN	ZC3H12D	HGNC	.	.	UPI00002377F7	SNV	ZC3H12D,5_prime_UTR_variant,,ENST00000416573,;ZC3H12D,5_prime_UTR_variant,,ENST00000542614,;ZC3H12D,5_prime_UTR_variant,,ENST00000409806,;ZC3H12D,5_prime_UTR_variant,,ENST00000409948,;ZC3H12D,5_prime_UTR_variant,,ENST00000389942,;ZC3H12D,non_coding_transcript_exon_variant,,ENST00000462655,;	261	31	32	SUCCESS
ZBTB2	57621	.	GRCh37	6	151687080	151687080	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	54	129	0	ENST00000325144.4:c.1121A>C	p.Gln374Pro	p.Q374P	ENST00000325144	NM_020861.1	374	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS5231.1	1121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTGGATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000323183	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	deleterious(0.01)	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,missense_variant,p.Gln374Pro,ENST00000325144,;	1262	129	115	SUCCESS
SYNE1	23345	.	GRCh37	6	152555815	152555815	+	synonymous_variant	Silent	SNP	T	T	C	rs1428729266	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	32	92	0	ENST00000367255.5:c.20517A>G	p.Leu6839=	p.L6839=	ENST00000367255	NM_182961.3	6839	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS5236.2	20517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTTAGATG	NONE	.	.	Superfamily_domains:SSF46966,SMART_domains:SM00150,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	111/146	.	.	.	.	.	.	.	.	.	111/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000356820,;SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	21119	92	68	SUCCESS
SYNE1	23345	.	GRCh37	6	152831366	152831366	+	synonymous_variant	Silent	SNP	C	C	T	rs757460023	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	8	117	0	ENST00000367255.5:c.543G>A	p.Lys181=	p.K181=	ENST00000367255	NM_182961.3	181	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5236.2	543	MUTECT|MUSE|VARSCANS	.	GCCTTCTTAGC	NONE	.	.	Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,PROSITE_profiles:PS50021	.	.	ENSP00000356224	.	8/146	.	.	.	.	.	.	.	.	rs757460023	8/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,synonymous_variant,p.%3D,ENST00000466159,;SYNE1,synonymous_variant,p.%3D,ENST00000367248,;SYNE1,synonymous_variant,p.%3D,ENST00000423061,;SYNE1,synonymous_variant,p.%3D,ENST00000448038,;SYNE1,synonymous_variant,p.%3D,ENST00000367255,;SYNE1,synonymous_variant,p.%3D,ENST00000413186,;SYNE1,synonymous_variant,p.%3D,ENST00000537750,;SYNE1,synonymous_variant,p.%3D,ENST00000341594,;SYNE1,synonymous_variant,p.%3D,ENST00000367253,;SYNE1,synonymous_variant,p.%3D,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	1145	117	91	SUCCESS
MYCT1	80177	.	GRCh37	6	153043211	153043211	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	82	0	ENST00000367245.5:c.531T>A	p.Pro177=	p.P177=	ENST00000367245	NM_025107.2	177	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5239.1	531	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGTGGA	NONE	.	.	Pfam_domain:PF15179,hmmpanther:PTHR14869	.	.	ENSP00000356214	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367245	Transcript	.	.	ENSG00000120279	23172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCT1_HUMAN	MYCT1	HGNC	D6Q1S4_HUMAN	.	UPI0000073EDB	SNV	MYCT1,synonymous_variant,p.%3D,ENST00000367245,;MYCT1,synonymous_variant,p.%3D,ENST00000532295,;MYCT1,intron_variant,,ENST00000529453,;	539	82	76	SUCCESS
NOX3	50508	.	GRCh37	6	155776903	155776903	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	88	0	ENST00000159060.2:c.32T>C	p.Leu11Pro	p.L11P	ENST00000159060	NM_015718.2	11	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS5250.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGAGACCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972	.	.	ENSP00000159060	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000159060	Transcript	.	.	ENSG00000074771	7890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.21)	.	NOX3_HUMAN	NOX3	HGNC	.	.	UPI000006EC80	SNV	NOX3,missense_variant,p.Leu11Pro,ENST00000159060,;	135	88	77	SUCCESS
ARID1B	57492	.	GRCh37	6	157528624	157528624	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	57	0	ENST00000346085.5:c.6349A>T	p.Arg2117Trp	p.R2117W	ENST00000346085	NM_020732.3	2117	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS55072.1	6349	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTAGGTAC	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:1.25.10.10,Pfam_domain:PF12031	.	.	ENSP00000344546	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Arg2157Trp,ENST00000367148,;ARID1B,missense_variant,p.Arg2104Trp,ENST00000350026,;ARID1B,missense_variant,p.Arg1626Trp,ENST00000414678,;ARID1B,missense_variant,p.Arg2099Trp,ENST00000275248,;ARID1B,missense_variant,p.Arg2117Trp,ENST00000346085,;	6350	57	44	SUCCESS
TAGAP	117289	.	GRCh37	6	159463252	159463252	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	117	0	ENST00000367066.3:c.173T>G	p.Leu58Arg	p.L58R	ENST00000367066	NM_054114.4	58	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5261.1	173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGCACC	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF26	.	.	ENSP00000356033	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000367066	Transcript	.	.	ENSG00000164691	15669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.07)	.	TAGAP_HUMAN	TAGAP	HGNC	.	.	UPI0000071CD5	SNV	TAGAP,missense_variant,p.Leu58Arg,ENST00000338313,;TAGAP,missense_variant,p.Leu58Arg,ENST00000367066,;TAGAP,intron_variant,,ENST00000326965,;RP1-111C20.4,non_coding_transcript_exon_variant,,ENST00000606470,;RP1-111C20.4,non_coding_transcript_exon_variant,,ENST00000606466,;RP1-111C20.4,non_coding_transcript_exon_variant,,ENST00000607796,;RP1-111C20.4,non_coding_transcript_exon_variant,,ENST00000607391,;	505	117	100	SUCCESS
IGF2R	3482	.	GRCh37	6	160469571	160469571	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	65	0	ENST00000356956.1:c.2510A>G	p.Asp837Gly	p.D837G	ENST00000356956	NM_000876.2	837	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS5273.1	2510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGATCAGG	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	18/48	.	.	.	.	.	.	.	.	.	18/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.25)	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,missense_variant,p.Asp837Gly,ENST00000356956,;	2658	65	46	SUCCESS
PLG	5340	.	GRCh37	6	161160115	161160115	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	45	99	0	ENST00000308192.9:c.1893A>G	p.Ser631=	p.S631=	ENST00000308192	NM_000301.3	631	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS5279.1	1893	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCATCCTA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001150,Superfamily_domains:SSF50494	.	.	ENSP00000308938	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000308192	Transcript	.	.	ENSG00000122194	9071	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLMN_HUMAN	PLG	HGNC	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN	.	UPI000000D8B8	SNV	PLG,synonymous_variant,p.%3D,ENST00000308192,;PLG,upstream_gene_variant,,ENST00000461414,;PLG,non_coding_transcript_exon_variant,,ENST00000467466,;	1956	99	111	SUCCESS
MAP3K4	4216	.	GRCh37	6	161523729	161523729	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	144	140	371	0	ENST00000392142.4:c.3776-2A>T		p.X1259_splice	ENST00000392142	NM_005922.2	1259		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34565.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGAACC	NONE	.	.	.	.	.	ENSP00000375986	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	HIGH	18/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,splice_acceptor_variant,,ENST00000366920,;MAP3K4,splice_acceptor_variant,,ENST00000366919,;MAP3K4,splice_acceptor_variant,,ENST00000348824,;MAP3K4,splice_acceptor_variant,,ENST00000392142,;MAP3K4,splice_acceptor_variant,,ENST00000544041,;MAP3K4,splice_acceptor_variant,,ENST00000490904,;MAP3K4,splice_acceptor_variant,,ENST00000544733,;MAP3K4,splice_acceptor_variant,,ENST00000541901,;MAP3K4,splice_acceptor_variant,,ENST00000536852,;MAP3K4,downstream_gene_variant,,ENST00000543421,;	.	371	285	SUCCESS
PDE10A	10846	.	GRCh37	6	165863831	165863831	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	78	0	ENST00000366882.1:c.215A>C	p.Gln72Pro	p.Q72P	ENST00000366882		72	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS47513.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCTGCATA	NONE	.	.	hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79	.	.	ENSP00000438284	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000539869	Transcript	.	.	ENSG00000112541	8772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	PDE10_HUMAN	PDE10A	HGNC	.	.	UPI000006F80E	SNV	PDE10A,missense_variant,p.Gln72Pro,ENST00000354448,;PDE10A,missense_variant,p.Gln82Pro,ENST00000539869,;PDE10A,missense_variant,p.Gln72Pro,ENST00000366882,;	301	78	69	SUCCESS
T	0	.	GRCh37	6	166578331	166578331	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	32	102	0	ENST00000296946.2:c.625A>T	p.Lys209Ter	p.K209*	ENST00000296946	NM_003181.3	209	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5290.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTTAATTT	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	.	.	ENSP00000296946	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,stop_gained,p.Lys209Ter,ENST00000461348,;T,stop_gained,p.Lys209Ter,ENST00000366876,;T,stop_gained,p.Lys209Ter,ENST00000366871,;T,stop_gained,p.Lys209Ter,ENST00000296946,;	1094	102	55	SUCCESS
CCR6	1235	.	GRCh37	6	167550197	167550197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	72	0	ENST00000341935.5:c.479C>A	p.Thr160Lys	p.T160K	ENST00000341935	NM_031409.3	160	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS5298.1	479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAACACTAC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF24,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00657	.	.	ENSP00000343952	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000341935	Transcript	.	.	ENSG00000112486	1607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.06)	.	deleterious(0)	.	CCR6_HUMAN	CCR6	HGNC	.	.	UPI00000008CE	SNV	CCR6,missense_variant,p.Thr160Lys,ENST00000341935,;CCR6,missense_variant,p.Thr160Lys,ENST00000400926,;CCR6,missense_variant,p.Thr160Lys,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	1031	72	55	SUCCESS
FAM120B	84498	.	GRCh37	6	170627636	170627636	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs201916124	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	71	225	0	ENST00000476287.1:c.1158G>T	p.Arg386Ser	p.R386S	ENST00000476287	NM_032448.1	386	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS5314.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCAAGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7	.	.	ENSP00000417970	.	2/11	.	.	.	.	.	.	.	.	rs201916124	2/11	PASS	ENST00000476287	Transcript	.	.	ENSG00000112584	21109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.117)	.	tolerated_low_confidence(0.07)	.	F120B_HUMAN	FAM120B	HGNC	B4DL34_HUMAN	.	UPI000006DC13	SNV	FAM120B,missense_variant,p.Arg386Ser,ENST00000476287,;FAM120B,missense_variant,p.Arg409Ser,ENST00000537664,;FAM120B,missense_variant,p.Arg398Ser,ENST00000540480,;FAM120B,intron_variant,,ENST00000252510,;	1266	225	152	SUCCESS
RNF144B	255488	.	GRCh37	6	18465185	18465185	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs757844724	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	59	113	0	ENST00000259939.3:c.799A>G	p.Ile267Val	p.I267V	ENST00000259939	NM_182757.3	267	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS34345.1	799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCATCATT	NONE	.	.	Transmembrane_helices:TMhelix,SMART_domains:SM00184,hmmpanther:PTHR11685:SF104,hmmpanther:PTHR11685	.	.	ENSP00000259939	.	8/8	.	.	.	.	.	.	.	.	rs757844724	8/8	PASS	ENST00000259939	Transcript	.	.	ENSG00000137393	21578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.16)	.	R144B_HUMAN	RNF144B	HGNC	.	.	UPI00001B2DA3	SNV	RNF144B,missense_variant,p.Ile178Val,ENST00000429054,;RNF144B,missense_variant,p.Ile267Val,ENST00000259939,;	1116	113	125	SUCCESS
MBOAT1	154141	.	GRCh37	6	20124804	20124804	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	66	162	1	ENST00000324607.7:c.742A>T	p.Thr248Ser	p.T248S	ENST00000324607	NM_001080480.2	248	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS34346.1	742	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTGATGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906,Pfam_domain:PF03062	.	.	ENSP00000324944	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000324607	Transcript	.	.	ENSG00000172197	21579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.124)	.	tolerated(0.5)	.	MBOA1_HUMAN	MBOAT1	HGNC	.	.	UPI000020D5D0	SNV	MBOAT1,missense_variant,p.Thr99Ser,ENST00000541730,;MBOAT1,missense_variant,p.Thr248Ser,ENST00000324607,;MBOAT1,downstream_gene_variant,,ENST00000536798,;	907	163	169	SUCCESS
TRIM38	10475	.	GRCh37	6	25983702	25983702	+	synonymous_variant	Silent	SNP	A	A	T	rs1471855550	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	90	0	ENST00000357085.3:c.1185A>T	p.Ala395=	p.A395=	ENST00000357085	NM_006355.3	395	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4568.1	1185	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCACTTAC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF47,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000349596	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000357085	Transcript	.	.	ENSG00000112343	10059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI38_HUMAN	TRIM38	HGNC	.	.	UPI000013431A	SNV	TRIM38,synonymous_variant,p.%3D,ENST00000357085,;TRIM38,synonymous_variant,p.%3D,ENST00000349458,;U91328.21,downstream_gene_variant,,ENST00000608931,;	1661	90	80	SUCCESS
HFE	3077	.	GRCh37	6	26091582	26091582	+	synonymous_variant	Silent	SNP	A	A	G	rs28934595	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	76	142	0	ENST00000357618.5:c.381A>G	p.Gln127=	p.Q127=	ENST00000357618	NM_000410.3	127	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS4578.1	381	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	ATGCAAGAAGA	NONE	byCluster	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF139,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,Prints_domain:PR01638	.	.	ENSP00000417404	.	3/6	.	.	.	.	.	.	.	.	CM990721,rs28934595	3/6	PASS	ENST00000357618	Transcript	.	.	ENSG00000010704	4886	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	.	HFE_HUMAN	HFE	HGNC	Q9UK37_HUMAN,Q9BXI5_HUMAN,Q8MH46_HUMAN,Q86WL1_HUMAN,I1VA72_HUMAN,I1VA66_HUMAN,I1VA63_HUMAN,I1VA60_HUMAN,I1VA56_HUMAN,I1VA55_HUMAN,H2E8T5_HUMAN,G3LGR1_HUMAN,G3LGR0_HUMAN,G3LGQ9_HUMAN,G3LGQ6_HUMAN,F5B2M9_HUMAN	.	UPI0000001700	SNV	HFE,synonymous_variant,p.%3D,ENST00000470149,;HFE,synonymous_variant,p.%3D,ENST00000357618,;HFE,synonymous_variant,p.%3D,ENST00000309234,;HFE,synonymous_variant,p.%3D,ENST00000488199,;HFE,synonymous_variant,p.%3D,ENST00000397022,;HFE,synonymous_variant,p.%3D,ENST00000349999,;HFE,synonymous_variant,p.%3D,ENST00000461397,;HFE,intron_variant,,ENST00000317896,;HFE,intron_variant,,ENST00000353147,;HFE,intron_variant,,ENST00000352392,;HFE,intron_variant,,ENST00000336625,;HFE,upstream_gene_variant,,ENST00000485729,;HFE,non_coding_transcript_exon_variant,,ENST00000483782,;HFE,intron_variant,,ENST00000486147,;	503	143	165	SUCCESS
HIST1H2AJ	0	.	GRCh37	6	27782393	27782393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	32	100	0	ENST00000333151.3:c.126G>T	p.Glu42Asp	p.E42D	ENST00000333151	NM_021066.2	42	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4628.1	126	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCGCTCCGC	NONE	.	.	Superfamily_domains:SSF47113,SMART_domains:SM00414,Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24	.	.	ENSP00000328484	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333151	Transcript	.	.	ENSG00000182611	4727	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated_low_confidence(0.07)	.	H2A1J_HUMAN	HIST1H2AJ	HGNC	.	.	UPI0000000E16	SNV	HIST1H2AJ,missense_variant,p.Glu42Asp,ENST00000333151,;HIST1H2BM,upstream_gene_variant,,ENST00000359465,;HIST1H3H,downstream_gene_variant,,ENST00000369163,;	215	100	67	SUCCESS
PGBD1	84547	.	GRCh37	6	28268678	28268678	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	45	86	0	ENST00000259883.3:c.1047A>G	p.Arg349=	p.R349=	ENST00000259883		349	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS4648.1	1047	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCGAGTGAG	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9	.	.	ENSP00000385213	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000405948	Transcript	.	.	ENSG00000137338	19398	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGBD1_HUMAN	PGBD1	HGNC	.	.	UPI000006ED63	SNV	PGBD1,synonymous_variant,p.%3D,ENST00000405948,;PGBD1,synonymous_variant,p.%3D,ENST00000259883,;	1467	86	83	SUCCESS
ZSCAN23	222696	.	GRCh37	6	28404070	28404070	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	39	0	ENST00000289788.4:c.-27T>C		p.*9*	ENST00000289788	NM_001012455.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47393.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAATCTAT	NONE	.	.	.	.	.	ENSP00000289788	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000289788	Transcript	.	.	ENSG00000187987	21193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSC23_HUMAN	ZSCAN23	HGNC	.	.	UPI000019874A	SNV	ZSCAN23,5_prime_UTR_variant,,ENST00000289788,;ZSCAN23,intron_variant,,ENST00000486481,;ZSCAN23,5_prime_UTR_variant,,ENST00000481983,;	120	39	38	SUCCESS
OR2J3	442186	.	GRCh37	6	29080029	29080029	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	136	0	ENST00000377169.1:c.362T>A	p.Met121Lys	p.M121K	ENST00000377169	NM_001005216.3	121	aTg/aAg	0	.	.	.	.	.	A	M/K	protein_coding	YES	CCDS43433.1	362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGATGTCCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366374	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377169	Transcript	.	.	ENSG00000204701	8261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR2J3_HUMAN	OR2J3	HGNC	.	.	UPI000014073A	SNV	OR2J3,missense_variant,p.Met121Lys,ENST00000377169,;	362	136	123	SUCCESS
OR2J2	26707	.	GRCh37	6	29141976	29141976	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	87	0	ENST00000377167.2:c.564A>G	p.Leu188=	p.L188=	ENST00000377167	NM_030905.2	188	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS43434.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTTATCATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF207,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000366372	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377167	Transcript	.	.	ENSG00000204700	8260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2J2_HUMAN	OR2J2	HGNC	.	.	UPI000004B9D1	SNV	OR2J2,synonymous_variant,p.%3D,ENST00000377167,;	666	87	76	SUCCESS
OR12D3	81797	.	GRCh37	6	29343000	29343000	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	71	236	0	ENST00000396806.3:c.65A>T	p.Gln22Leu	p.Q22L	ENST00000396806	NM_030959.2	22	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4658.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTGCAGC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF193,hmmpanther:PTHR26451	.	.	ENSP00000380023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000396806	Transcript	.	.	ENSG00000112462	13963	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.461)	.	deleterious(0)	.	O12D3_HUMAN	OR12D3	HGNC	D2XT27_HUMAN	.	UPI000000DCA9	SNV	OR12D3,missense_variant,p.Gln22Leu,ENST00000396806,;OR5V1,intron_variant,,ENST00000377154,;	69	236	196	SUCCESS
OR10C1	442194	.	GRCh37	6	29408614	29408614	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	30	83	0	ENST00000444197.2:c.822C>A	p.Ser274=	p.S274=	ENST00000444197	NM_013941.3	274	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34364.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCCCTCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000419119	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000444197	Transcript	.	.	ENSG00000206474	8165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10C1_HUMAN	OR10C1	HGNC	.	.	UPI000014068E	SNV	OR10C1,synonymous_variant,p.%3D,ENST00000444197,;OR11A1,intron_variant,,ENST00000377149,;	1532	83	73	SUCCESS
OR2H2	7932	.	GRCh37	6	29556136	29556136	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	35	90	0	ENST00000383640.2:c.415T>G	p.Cys139Gly	p.C139G	ENST00000383640	NM_007160.3	139	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS34365.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTGCTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000373136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383640	Transcript	.	.	ENSG00000204657	8253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	OR2H2_HUMAN	OR2H2	HGNC	.	.	UPI00001404DC	SNV	OR2H2,missense_variant,p.Cys139Gly,ENST00000383640,;GABBR1,intron_variant,,ENST00000355973,;	454	90	60	SUCCESS
GABBR1	2550	.	GRCh37	6	29595353	29595353	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	18	0	ENST00000377034.4:c.567G>A	p.Gln189=	p.Q189=	ENST00000377034	NM_001470.2	189	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS4663.1	567	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGCTGGCA	NONE	.	.	hmmpanther:PTHR10519:SF3,hmmpanther:PTHR10519,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01176	.	.	ENSP00000366233	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000377034	Transcript	.	.	ENSG00000204681	4070	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,synonymous_variant,p.%3D,ENST00000377016,;GABBR1,synonymous_variant,p.%3D,ENST00000376977,;GABBR1,synonymous_variant,p.%3D,ENST00000355973,;GABBR1,synonymous_variant,p.%3D,ENST00000377012,;GABBR1,synonymous_variant,p.%3D,ENST00000377034,;GABBR1,downstream_gene_variant,,ENST00000462632,;GABBR1,downstream_gene_variant,,ENST00000476670,;GABBR1,synonymous_variant,p.%3D,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,3_prime_UTR_variant,,ENST00000489385,;GABBR1,intron_variant,,ENST00000485508,;GABBR1,downstream_gene_variant,,ENST00000467259,;GABBR1,upstream_gene_variant,,ENST00000477029,;	903	18	25	SUCCESS
MOG	4340	.	GRCh37	6	29627246	29627246	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	55	137	0	ENST00000376917.3:c.239A>T	p.Tyr80Phe	p.Y80F	ENST00000376917	NM_002433.4	80	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS4667.1	239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTACAGAA	NONE	.	.	Superfamily_domains:SSF48726,PIRSF_domain:PIRSF016522,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR24100,PROSITE_profiles:PS50835	.	.	ENSP00000366095	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376898	Transcript	.	.	ENSG00000204655	7197	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	MOG_HUMAN	MOG	HGNC	.	.	UPI00004573E8	SNV	MOG,missense_variant,p.Tyr80Phe,ENST00000533330,;MOG,missense_variant,p.Tyr80Phe,ENST00000396704,;MOG,missense_variant,p.Tyr80Phe,ENST00000376891,;MOG,missense_variant,p.Tyr80Phe,ENST00000376898,;MOG,missense_variant,p.Tyr80Phe,ENST00000494692,;MOG,missense_variant,p.Tyr80Phe,ENST00000376917,;MOG,missense_variant,p.Tyr80Phe,ENST00000376902,;MOG,missense_variant,p.Tyr80Phe,ENST00000416766,;MOG,missense_variant,p.Tyr80Phe,ENST00000431798,;MOG,missense_variant,p.Tyr80Phe,ENST00000376894,;MOG,missense_variant,p.Tyr80Phe,ENST00000396701,;MOG,intron_variant,,ENST00000490427,;MOG,intron_variant,,ENST00000483013,;MOG,intron_variant,,ENST00000376888,;MOG,non_coding_transcript_exon_variant,,ENST00000469603,;MOG,non_coding_transcript_exon_variant,,ENST00000476244,;MOG,missense_variant,p.Tyr51Phe,ENST00000376889,;MOG,missense_variant,p.Tyr51Phe,ENST00000485211,;MOG,3_prime_UTR_variant,,ENST00000376903,;MOG,non_coding_transcript_exon_variant,,ENST00000469353,;	239	137	119	SUCCESS
MDC1	9656	.	GRCh37	6	30671686	30671686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	74	1	ENST00000376406.3:c.5274G>T	p.Trp1758Cys	p.W1758C	ENST00000376406	NM_014641.2	1758	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS34384.1	5274	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCATCT	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.408)	.	tolerated(0.12)	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,missense_variant,p.Trp1758Cys,ENST00000376406,;MDC1,missense_variant,p.Trp1494Cys,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	5922	75	62	SUCCESS
VARS2	57176	.	GRCh37	6	30892148	30892148	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	30	76	0	ENST00000321897.5:c.2484G>C	p.Val828=	p.V828=	ENST00000321897		828	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS54980.1	2574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGTGCTGTG	NONE	.	.	Superfamily_domains:SSF47323,Pfam_domain:PF08264,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00422,hmmpanther:PTHR11946:SF71,hmmpanther:PTHR11946	.	.	ENSP00000441000	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000541562	Transcript	.	.	ENSG00000137411	21642	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYVM_HUMAN	VARS2	HGNC	B7ZCJ6_HUMAN,A2ABL6_HUMAN	.	UPI0001BDAB0F	SNV	VARS2,synonymous_variant,p.%3D,ENST00000321897,;VARS2,synonymous_variant,p.%3D,ENST00000542001,;VARS2,synonymous_variant,p.%3D,ENST00000541562,;VARS2,synonymous_variant,p.%3D,ENST00000416670,;VARS2,non_coding_transcript_exon_variant,,ENST00000476162,;VARS2,non_coding_transcript_exon_variant,,ENST00000469358,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,non_coding_transcript_exon_variant,,ENST00000473916,;VARS2,downstream_gene_variant,,ENST00000477052,;	2655	76	70	SUCCESS
DPCR1	0	.	GRCh37	6	30919181	30919181	+	synonymous_variant	Silent	SNP	T	T	A	rs1376718084	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	57	0	ENST00000462446.1:c.2940T>A	p.Pro980=	p.P980=	ENST00000462446		980	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4692.2	2940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTACAGA	NONE	.	.	hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0	.	.	ENSP00000417182	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000462446	Transcript	.	.	ENSG00000168631	21666	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,synonymous_variant,p.%3D,ENST00000462446,;DPCR1,5_prime_UTR_variant,,ENST00000304311,;HCG21,intron_variant,,ENST00000419481,;	2968	57	64	SUCCESS
MUC21	394263	.	GRCh37	6	30955029	30955029	+	synonymous_variant	Silent	SNP	A	A	T	rs41288693	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	26	0	ENST00000376296.3:c.1077A>T	p.Thr359=	p.T359=	ENST00000376296	NM_001010909.2	359	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34388.1	1077	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGCCAC	BUFFER|p.S358N|c.1073G>A|4	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF05647,Pfam_domain:PF05647	.	.	ENSP00000365473	.	2/3	.	.	.	.	.	.	.	.	rs41288693	2/3	PASS	ENST00000376296	Transcript	.	.	ENSG00000204544	21661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC21_HUMAN	MUC21	HGNC	.	.	UPI000047030C	SNV	MUC21,synonymous_variant,p.%3D,ENST00000376296,;MUC21,5_prime_UTR_variant,,ENST00000486149,;	1318	26	32	SUCCESS
SKIV2L	6499	.	GRCh37	6	31935153	31935153	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs755572113	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	41	77	0	ENST00000375394.2:c.2582A>T	p.Gln861Leu	p.Q861L	ENST00000375394	NM_006929.4	861	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS4731.1	2582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACAGGTGA	NONE	byFrequency	.	hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,Pfam_domain:PF13234,PIRSF_domain:PIRSF005198	.	.	ENSP00000364543	.	21/28	.	.	.	.	.	.	.	.	rs755572113	21/28	PASS	ENST00000375394	Transcript	.	.	ENSG00000204351	10898	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0.02)	.	SKIV2_HUMAN	SKIV2L	HGNC	Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN	.	UPI000045740B	SNV	SKIV2L,missense_variant,p.Gln668Leu,ENST00000544581,;SKIV2L,missense_variant,p.Gln861Leu,ENST00000375394,;DXO,downstream_gene_variant,,ENST00000495340,;SKIV2L,upstream_gene_variant,,ENST00000491994,;STK19,upstream_gene_variant,,ENST00000375331,;DXO,downstream_gene_variant,,ENST00000375356,;STK19,upstream_gene_variant,,ENST00000460018,;DXO,downstream_gene_variant,,ENST00000375349,;STK19,upstream_gene_variant,,ENST00000375333,;DXO,downstream_gene_variant,,ENST00000337523,;SKIV2L,splice_region_variant,,ENST00000461915,;SKIV2L,upstream_gene_variant,,ENST00000470453,;STK19,upstream_gene_variant,,ENST00000463823,;SKIV2L,upstream_gene_variant,,ENST00000471818,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;DXO,downstream_gene_variant,,ENST00000478221,;SKIV2L,splice_region_variant,,ENST00000494058,;SKIV2L,splice_region_variant,,ENST00000484835,;SKIV2L,splice_region_variant,,ENST00000474839,;SKIV2L,splice_region_variant,,ENST00000465703,;DXO,downstream_gene_variant,,ENST00000473976,;DXO,downstream_gene_variant,,ENST00000492946,;STK19,upstream_gene_variant,,ENST00000473983,;SKIV2L,downstream_gene_variant,,ENST00000461073,;DXO,downstream_gene_variant,,ENST00000480240,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000477826,;STK19,upstream_gene_variant,,ENST00000479644,;SKIV2L,downstream_gene_variant,,ENST00000466290,;DXO,downstream_gene_variant,,ENST00000491327,;STK19,upstream_gene_variant,,ENST00000466132,;DXO,downstream_gene_variant,,ENST00000460058,;DXO,downstream_gene_variant,,ENST00000485557,;STK19,upstream_gene_variant,,ENST00000492583,;SKIV2L,upstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,upstream_gene_variant,,ENST00000485349,;	2695	77	100	SUCCESS
GPSM3	63940	.	GRCh37	6	32159648	32159648	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	19	92	0	ENST00000375040.3:c.183G>T	p.Gln61His	p.Q61H	ENST00000375040	NM_001276501.1	61	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS34419.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTCTGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10098:SF99,hmmpanther:PTHR10098	.	.	ENSP00000364180	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000375040	Transcript	.	.	ENSG00000213654	13945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	tolerated(0.16)	.	GPSM3_HUMAN	GPSM3	HGNC	.	.	UPI0000073FDF	SNV	GPSM3,missense_variant,p.Gln61His,ENST00000375043,;GPSM3,missense_variant,p.Gln58His,ENST00000487761,;GPSM3,missense_variant,p.Gln61His,ENST00000375040,;NOTCH4,downstream_gene_variant,,ENST00000375023,;PBX2,upstream_gene_variant,,ENST00000375050,;NOTCH4,downstream_gene_variant,,ENST00000443903,;GPSM3,splice_acceptor_variant,,ENST00000472768,;PBX2,upstream_gene_variant,,ENST00000496171,;PBX2,upstream_gene_variant,,ENST00000480254,;PBX2,upstream_gene_variant,,ENST00000495300,;PBX2,upstream_gene_variant,,ENST00000478678,;NOTCH4,downstream_gene_variant,,ENST00000474612,;NOTCH4,downstream_gene_variant,,ENST00000491215,;	576	92	95	SUCCESS
COL11A2	1302	.	GRCh37	6	33143844	33143844	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	85	0	ENST00000374708.4:c.1959T>C		p.X653_splice	ENST00000374708	NM_080681.2	653	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS43452.1	1959	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCACCCTG	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	27/64	.	.	.	.	.	.	.	.	.	27/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,synonymous_variant,p.%3D,ENST00000395197,;COL11A2,synonymous_variant,p.%3D,ENST00000374713,;COL11A2,synonymous_variant,p.%3D,ENST00000361917,;COL11A2,synonymous_variant,p.%3D,ENST00000374712,;COL11A2,synonymous_variant,p.%3D,ENST00000357486,;COL11A2,synonymous_variant,p.%3D,ENST00000374708,;COL11A2,synonymous_variant,p.%3D,ENST00000341947,;COL11A2,synonymous_variant,p.%3D,ENST00000374714,;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	2218	86	85	SUCCESS
ITPR3	3710	.	GRCh37	6	33655094	33655094	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	25	43	0	ENST00000374316.5:c.6167T>A	p.Leu2056Gln	p.L2056Q	ENST00000374316		2056	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4783.1	6167	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCTGGCGC	NONE	.	.	hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715	.	.	ENSP00000363435	.	46/59	.	.	.	.	.	.	.	.	.	46/59	PASS	ENST00000374316	Transcript	.	.	ENSG00000096433	6182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.602)	.	deleterious(0)	.	ITPR3_HUMAN	ITPR3	HGNC	A6H8K3_HUMAN	.	UPI000013CB74	SNV	ITPR3,missense_variant,p.Leu2056Gln,ENST00000374316,;ITPR3,missense_variant,p.Leu2056Gln,ENST00000605930,;	7227	43	48	SUCCESS
CLPSL1	340204	.	GRCh37	6	35748856	35748856	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	36	59	0	ENST00000373861.5:c.-32G>A		p.*11*	ENST00000373861				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43456.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGGACCCT	NONE	.	.	.	.	.	ENSP00000362968	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000373861	Transcript	.	.	ENSG00000204140	21251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COLL1_HUMAN	CLPSL1	HGNC	F6TG72_HUMAN	.	UPI000015EE7B	SNV	CLPSL1,5_prime_UTR_variant,,ENST00000373861,;CLPSL1,5_prime_UTR_variant,,ENST00000542261,;CLPSL2,downstream_gene_variant,,ENST00000403376,;CLPSL2,downstream_gene_variant,,ENST00000360454,;CLPSL2,downstream_gene_variant,,ENST00000467122,;CLPSL2,downstream_gene_variant,,ENST00000481904,;	63	59	71	SUCCESS
DNAH8	1769	.	GRCh37	6	38816528	38816528	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	38	98	0	ENST00000359357.3:c.4499A>G	p.Tyr1500Cys	p.Y1500C	ENST00000359357		1500	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	.	4499	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTATCTTG	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	35/91	.	.	.	.	.	.	.	.	.	35/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Tyr1500Cys,ENST00000359357,;DNAH8,missense_variant,p.Tyr1705Cys,ENST00000327475,;DNAH8,missense_variant,p.Tyr1500Cys,ENST00000441566,;DNAH8,missense_variant,p.Tyr1717Cys,ENST00000449981,;	4753	98	88	SUCCESS
GLP1R	2740	.	GRCh37	6	39040694	39040694	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	57	1	ENST00000373256.4:c.566T>A	p.Leu189Gln	p.L189Q	ENST00000373256	NM_002062.3	189	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS4839.1	566	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGCGAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000362353	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000373256	Transcript	.	.	ENSG00000112164	4324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GLP1R_HUMAN	GLP1R	HGNC	.	.	UPI0000061F20	SNV	GLP1R,missense_variant,p.Leu189Gln,ENST00000373256,;	609	58	63	SUCCESS
UBR2	23304	.	GRCh37	6	42562032	42562032	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	88	0	ENST00000372899.1:c.521A>G	p.Glu174Gly	p.E174G	ENST00000372899	NM_015255.2	174	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS4870.1	521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGAGGAAG	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28	.	.	ENSP00000361990	.	4/47	.	.	.	.	.	.	.	.	.	4/47	PASS	ENST00000372899	Transcript	.	.	ENSG00000024048	21289	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.31)	.	UBR2_HUMAN	UBR2	HGNC	B3KXG6_HUMAN	.	UPI0000074466	SNV	UBR2,missense_variant,p.Glu174Gly,ENST00000372901,;UBR2,missense_variant,p.Glu174Gly,ENST00000372903,;UBR2,missense_variant,p.Glu174Gly,ENST00000372899,;	779	88	89	SUCCESS
CUL9	23113	.	GRCh37	6	43155009	43155009	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	66	0	ENST00000252050.4:c.1413T>A	p.Pro471=	p.P471=	ENST00000252050	NM_015089.2	471	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS4890.1	1413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTATGGA	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	6/41	.	.	.	.	.	.	.	.	.	6/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,synonymous_variant,p.%3D,ENST00000372647,;CUL9,synonymous_variant,p.%3D,ENST00000252050,;CUL9,intron_variant,,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,intron_variant,,ENST00000510282,;CUL9,intron_variant,,ENST00000451399,;	1497	66	79	SUCCESS
TCTE1	202500	.	GRCh37	6	44253945	44253945	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs745493149	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	44	1	ENST00000371505.4:c.602A>G	p.Gln201Arg	p.Q201R	ENST00000371505	NM_182539.3	201	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4910.1	602	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGCACC	NONE	.	.	hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2	.	.	ENSP00000360560	.	3/5	.	.	.	.	.	.	.	.	rs745493149	3/5	PASS	ENST00000371505	Transcript	.	.	ENSG00000146221	11693	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.51)	.	TCTE1_HUMAN	TCTE1	HGNC	.	.	UPI0000160BC0	SNV	TCTE1,missense_variant,p.Gln48Arg,ENST00000371504,;TCTE1,missense_variant,p.Gln201Arg,ENST00000371505,;TCTE1,missense_variant,p.Gln48Arg,ENST00000371503,;TMEM151B,intron_variant,,ENST00000438774,;RP11-444E17.6,intron_variant,,ENST00000505802,;	725	45	38	SUCCESS
DEFB113	245927	.	GRCh37	6	49937307	49937307	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	76	0	ENST00000398718.1:c.32T>C	p.Val11Ala	p.V11A	ENST00000398718	NM_001037729.1	11	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS43472.1	32	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGACAAAG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257	.	.	ENSP00000381703	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000398718	Transcript	.	.	ENSG00000214642	18094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	deleterious_low_confidence(0.01)	.	DB113_HUMAN	DEFB113	HGNC	.	.	UPI00005E4A72	SNV	DEFB113,missense_variant,p.Val11Ala,ENST00000398718,;	32	76	67	SUCCESS
TFAP2D	83741	.	GRCh37	6	50712859	50712859	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	83	167	0	ENST00000008391.3:c.923G>T	p.Cys308Phe	p.C308F	ENST00000008391	NM_172238.3	308	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS4933.1	923	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGTGAAA	NONE	.	.	Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5	.	.	ENSP00000008391	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,missense_variant,p.Cys308Phe,ENST00000008391,;TFAP2D,non_coding_transcript_exon_variant,,ENST00000492804,;	1151	167	188	SUCCESS
PKHD1	5314	.	GRCh37	6	51491880	51491880	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	77	1	ENST00000371117.3:c.11700T>A	p.Thr3900=	p.T3900=	ENST00000371117	NM_138694.3	3900	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS4935.1	11700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTAGTCTG	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	.	.	ENSP00000360158	.	66/67	.	.	.	.	.	.	.	.	.	66/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,synonymous_variant,p.%3D,ENST00000371117,;RP3-335N17.2,downstream_gene_variant,,ENST00000589278,;RP3-335N17.2,downstream_gene_variant,,ENST00000454361,;RP3-335N17.2,downstream_gene_variant,,ENST00000587000,;	11976	78	42	SUCCESS
PKHD1	5314	.	GRCh37	6	51890688	51890688	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs572226863	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	89	0	ENST00000371117.3:c.3920A>G	p.Gln1307Arg	p.Q1307R	ENST00000371117	NM_138694.3	1307	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS4935.1	3920	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTGCATG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000360158	.	32/67	.	.	.	.	.	.	.	.	rs572226863	32/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.57)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Gln1307Arg,ENST00000340994,;PKHD1,missense_variant,p.Gln1307Arg,ENST00000371117,;	4196	89	91	SUCCESS
MCM3	4172	.	GRCh37	6	52129386	52129386	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	27	59	0	ENST00000229854.7:c.2427A>T	p.Ter809CysextTer38	p.*809Cext*38	ENST00000229854		809	tgA/tgT	0	.	.	.	.	.	A	*/C	protein_coding	YES	CCDS4940.2	2562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCAGAT	NONE	.	.	.	.	.	ENSP00000472940	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000596288	Transcript	.	.	ENSG00000112118	6945	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MCM3	HGNC	Q8NHX6_HUMAN,B4DWW4_HUMAN	.	UPI0000EE4F08	SNV	MCM3,stop_lost,p.Ter763CysextTer38,ENST00000419835,;MCM3,stop_lost,p.Ter809CysextTer38,ENST00000229854,;MCM3,stop_lost,p.Ter854CysextTer38,ENST00000596288,;MCM3,downstream_gene_variant,,ENST00000421471,;	2590	59	53	SUCCESS
HCRTR2	3062	.	GRCh37	6	55142234	55142234	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	57	151	0	ENST00000370862.3:c.819A>G	p.Ser273=	p.S273=	ENST00000370862	NM_001526.3	273	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS4956.1	819	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTCACAGCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001	.	.	ENSP00000359899	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000370862	Transcript	.	.	ENSG00000137252	4849	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OX2R_HUMAN	HCRTR2	HGNC	S4X0W3_HUMAN,A6N9G8_HUMAN	.	UPI000013D07A	SNV	HCRTR2,synonymous_variant,p.%3D,ENST00000370862,;	1155	151	121	SUCCESS
COL21A1	81578	.	GRCh37	6	55940292	55940292	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	51	165	0	ENST00000244728.5:c.1896A>G	p.Gly632=	p.G632=	ENST00000244728	NM_030820.3	632	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS55025.1	1896	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTCCTTT	NONE	.	.	hmmpanther:PTHR24023,Low_complexity_(Seg):seg	.	.	ENSP00000244728	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000244728	Transcript	.	.	ENSG00000124749	17025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COLA1_HUMAN	COL21A1	HGNC	A6PVD9_HUMAN	.	UPI0000071DFE	SNV	COL21A1,synonymous_variant,p.%3D,ENST00000370819,;COL21A1,synonymous_variant,p.%3D,ENST00000535941,;COL21A1,synonymous_variant,p.%3D,ENST00000244728,;COL21A1,synonymous_variant,p.%3D,ENST00000370808,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,downstream_gene_variant,,ENST00000484987,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000461489,;	2294	165	129	SUCCESS
ZNF451	26036	.	GRCh37	6	56993604	56993604	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	76	0	ENST00000370706.4:c.390A>T	p.Ala130=	p.A130=	ENST00000370706	NM_001031623.2	130	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43477.1	390	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAAGACT	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436	.	.	ENSP00000359740	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,synonymous_variant,p.%3D,ENST00000357489,;ZNF451,synonymous_variant,p.%3D,ENST00000370706,;ZNF451,synonymous_variant,p.%3D,ENST00000510483,;ZNF451,synonymous_variant,p.%3D,ENST00000491832,;ZNF451,5_prime_UTR_variant,,ENST00000515290,;ZNF451,downstream_gene_variant,,ENST00000370702,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586668,;ZNF451,downstream_gene_variant,,ENST00000509071,;ZNF451,downstream_gene_variant,,ENST00000509251,;ZNF451,3_prime_UTR_variant,,ENST00000502749,;ZNF451,3_prime_UTR_variant,,ENST00000370711,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;	634	76	94	SUCCESS
EYS	346007	.	GRCh37	6	65301602	65301602	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	27	88	0	ENST00000370616.2:c.4158T>G	p.Asp1386Glu	p.D1386E	ENST00000370616		1386	gaT/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS47445.1	4158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTATCAGG	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	26/43	.	.	.	.	.	.	.	.	.	26/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.27)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Asp1386Glu,ENST00000370616,;EYS,missense_variant,p.Asp1386Glu,ENST00000370621,;EYS,missense_variant,p.Asp1386Glu,ENST00000503581,;EYS,downstream_gene_variant,,ENST00000330816,;	4696	88	70	SUCCESS
EYS	346007	.	GRCh37	6	66204911	66204911	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	42	97	0	ENST00000370616.2:c.393del	p.Gly132GlufsTer10	p.G132Efs*10	ENST00000370616		131	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS47445.1	393	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTCCTTTTAG	NONE	.	.	.	.	.	ENSP00000424243	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	deletion	EYS,frameshift_variant,p.Gly132GlufsTer10,ENST00000342421,;EYS,frameshift_variant,p.Gly132GlufsTer10,ENST00000393380,;EYS,frameshift_variant,p.Gly132GlufsTer10,ENST00000370616,;EYS,frameshift_variant,p.Gly132GlufsTer10,ENST00000503581,;EYS,frameshift_variant,p.Gly132GlufsTer10,ENST00000370621,;EYS,frameshift_variant,p.Gly132GlufsTer10,ENST00000370618,;EYS,frameshift_variant,p.Gly29GlufsTer10,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;	931	97	139	SUCCESS
BAI3	0	.	GRCh37	6	69348551	69348551	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	25	75	0	ENST00000370598.1:c.-15-2A>T		p.X5_splice	ENST00000370598	NM_001704.2	5		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4968.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACAGGCCA	NONE	.	.	.	.	.	ENSP00000359630	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	HIGH	2/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,splice_acceptor_variant,,ENST00000370598,;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;RP3-525N10.2,upstream_gene_variant,,ENST00000419979,;	.	75	57	SUCCESS
BAI3	0	.	GRCh37	6	69949085	69949085	+	synonymous_variant	Silent	SNP	C	C	T	rs560469400	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	91	0	ENST00000370598.1:c.2781C>T	p.Leu927=	p.L927=	ENST00000370598	NM_001704.2	927	ctC/ctT	0	.	T:0	.	T:0	.	T	L	protein_coding	YES	CCDS4968.1	2781	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCATACT	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF40,hmmpanther:PTHR12011,Pfam_domain:PF00002	T:0	.	ENSP00000359630	T:0	20/32	.	.	.	.	.	.	.	.	rs560469400	20/32	PASS	ENST00000370598	Transcript	.	T:0.0002	ENSG00000135298	945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,synonymous_variant,p.%3D,ENST00000603207,;BAI3,synonymous_variant,p.%3D,ENST00000238918,;BAI3,synonymous_variant,p.%3D,ENST00000604969,;BAI3,synonymous_variant,p.%3D,ENST00000370598,;	3602	91	83	SUCCESS
COL9A1	1297	.	GRCh37	6	70935655	70935655	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761742449	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	33	74	0	ENST00000357250.6:c.2561C>A	p.Pro854His	p.P854H	ENST00000357250	NM_001851.4	854	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4971.1	2561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGCAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000349790	.	37/38	.	.	.	.	.	.	.	.	rs761742449	37/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Pro611His,ENST00000370499,;COL9A1,missense_variant,p.Pro611His,ENST00000320755,;COL9A1,missense_variant,p.Pro854His,ENST00000357250,;RP1-149L1.1,intron_variant,,ENST00000522264,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,non_coding_transcript_exon_variant,,ENST00000486080,;	2720	74	60	SUCCESS
MYO6	4646	.	GRCh37	6	76576647	76576647	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	33	60	0	ENST00000369977.3:c.1771-2A>T		p.X591_splice	ENST00000369977	NM_004999.3	591		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGACCC	NONE	.	.	.	.	.	ENSP00000358994	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	HIGH	17/34	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,splice_acceptor_variant,,ENST00000369985,;MYO6,splice_acceptor_variant,,ENST00000369977,;MYO6,splice_acceptor_variant,,ENST00000369981,;MYO6,splice_acceptor_variant,,ENST00000369975,;snoU13,downstream_gene_variant,,ENST00000459013,;RNA5SP209,upstream_gene_variant,,ENST00000411237,;MYO6,upstream_gene_variant,,ENST00000462633,;	.	60	61	SUCCESS
PHIP	55023	.	GRCh37	6	79657378	79657378	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	83	1	ENST00000275034.4:c.4168A>T	p.Ser1390Cys	p.S1390C	ENST00000275034	NM_017934.5	1390	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS4987.1	4168	RADIA|MUTECT|MUSE	.	ATTACTGAAAA	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266,PROSITE_patterns:PS00633,Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503	.	.	ENSP00000275034	.	36/40	.	.	.	.	.	.	.	.	.	36/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	tolerated(0.06)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Ser1390Cys,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;IRAK1BP1,downstream_gene_variant,,ENST00000606868,;	4336	84	85	SUCCESS
PHIP	55023	.	GRCh37	6	79770201	79770201	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1468225121	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	58	0	ENST00000275034.4:c.433A>T	p.Ser145Cys	p.S145C	ENST00000275034	NM_017934.5	145	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS4987.1	433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTGGGTG	NONE	.	.	hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	.	.	ENSP00000275034	.	6/40	.	.	.	.	.	.	.	.	.	6/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.397)	.	deleterious(0)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Ser145Cys,ENST00000275034,;	601	58	47	SUCCESS
LCA5	167691	.	GRCh37	6	80223068	80223068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	58	175	0	ENST00000369846.4:c.581G>T	p.Ser194Ile	p.S194I	ENST00000369846	NM_001122769.2	194	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS4990.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCACTTTCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16650:SF8,hmmpanther:PTHR16650,Pfam_domain:PF15619	.	.	ENSP00000376686	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.198)	.	deleterious(0.01)	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,missense_variant,p.Ser194Ile,ENST00000369846,;LCA5,missense_variant,p.Ser194Ile,ENST00000467898,;LCA5,missense_variant,p.Ser194Ile,ENST00000392959,;	1193	175	141	SUCCESS
C6ORF165	0	.	GRCh37	6	88128124	88128124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	67	0	ENST00000369562.4:c.830A>T	p.Gln277Leu	p.Q277L	ENST00000369562	NM_001031743.2	277	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS34498.1	830	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCAGATCA	NONE	.	.	Pfam_domain:PF12018,hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	.	.	ENSP00000358575	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000369562	Transcript	.	.	ENSG00000272514	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated(0.1)	.	.	C6ORF165	Uniprot_gn	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN	.	UPI00001A3AA5	SNV	C6ORF165,missense_variant,p.Gln277Leu,ENST00000369562,;C6ORF165,downstream_gene_variant,,ENST00000480123,;C6orf165,missense_variant,p.Gln277Leu,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;	942	67	57	SUCCESS
MDN1	23195	.	GRCh37	6	90371171	90371171	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1276952037	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	35	122	0	ENST00000369393.3:c.14692A>G	p.Thr4898Ala	p.T4898A	ENST00000369393		4898	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS5024.1	14692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGGTGTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	88/102	.	.	.	.	.	.	.	.	.	88/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,missense_variant,p.Thr4898Ala,ENST00000369393,;MDN1,missense_variant,p.Thr4898Ala,ENST00000428876,;	14808	122	92	SUCCESS
MDN1	23195	.	GRCh37	6	90371808	90371808	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	55	0	ENST00000369393.3:c.14563G>T	p.Glu4855Ter	p.E4855*	ENST00000369393		4855	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5024.1	14563	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTCATCTA	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	87/102	.	.	.	.	.	.	.	.	.	87/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,stop_gained,p.Glu4855Ter,ENST00000369393,;MDN1,stop_gained,p.Glu4855Ter,ENST00000428876,;	14679	55	61	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90566809	90566809	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	36	0	ENST00000551025.1:n.1744A>G		p.*582*	ENST00000551025				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	RADIA|VARSCANS	.	ATTTCAGCTTA	NONE	.	.	.	.	.	.	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000551025	Transcript	.	.	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000444163,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000419040,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000552401,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000547893,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000548224,;	1744	36	37	SUCCESS
BACH2	60468	.	GRCh37	6	90661011	90661011	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	22	49	0	ENST00000257749.4:c.814A>T	p.Arg272Trp	p.R272W	ENST00000257749	NM_021813.2	272	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS5026.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCTGGCAA	NONE	.	.	.	.	.	ENSP00000257749	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000257749	Transcript	.	.	ENSG00000112182	14078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	deleterious(0.02)	.	BACH2_HUMAN	BACH2	HGNC	S0BE05_HUMAN,S0BDZ6_HUMAN,S0BDY5_HUMAN,Q7Z6Q0_HUMAN	.	UPI000004F8AD	SNV	BACH2,missense_variant,p.Arg272Trp,ENST00000257749,;BACH2,missense_variant,p.Arg272Trp,ENST00000343122,;BACH2,missense_variant,p.Arg272Trp,ENST00000537989,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;	1522	49	41	SUCCESS
NDUFAF4	29078	.	GRCh37	6	97339048	97339048	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	52	0	ENST00000316149.7:c.460A>T	p.Lys154Ter	p.K154*	ENST00000316149	NM_014165.3	154	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5037.1	460	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTTAAGAA	NONE	.	.	Pfam_domain:PF06784,hmmpanther:PTHR13338:SF4,hmmpanther:PTHR13338	.	.	ENSP00000358272	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000316149	Transcript	.	.	ENSG00000123545	21034	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUF4_HUMAN	NDUFAF4	HGNC	.	.	UPI0000049FC8	SNV	NDUFAF4,stop_gained,p.Lys154Ter,ENST00000316149,;NDUFAF4,non_coding_transcript_exon_variant,,ENST00000489477,;NDUFAF4,non_coding_transcript_exon_variant,,ENST00000478382,;	540	52	46	SUCCESS
OFCC1	266553	.	GRCh37	6	9933004	9933004	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs754188521	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	57	0	ENST00000460363.2:c.255A>T	p.Lys85Asn	p.K85N	ENST00000460363		85	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	.	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCTTTTGG	NONE	byFrequency	.	.	.	.	ENSP00000419718	.	3/8	.	.	.	.	.	.	.	.	rs754188521	3/8	PASS	ENST00000460363	Transcript	.	.	ENSG00000181355	21017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	.	OFCC1	HGNC	Q8IZS0_HUMAN	.	UPI00000740B8	SNV	OFCC1,missense_variant,p.Lys153Asn,ENST00000316020,;OFCC1,missense_variant,p.Lys68Asn,ENST00000492169,;OFCC1,missense_variant,p.Lys85Asn,ENST00000460363,;OFCC1,missense_variant,p.Lys153Asn,ENST00000491508,;OFCC1,splice_region_variant,,ENST00000460066,;OFCC1,splice_region_variant,,ENST00000472329,;OFCC1,splice_region_variant,,ENST00000466385,;OFCC1,missense_variant,p.Lys75Asn,ENST00000486246,;OFCC1,missense_variant,p.Lys72Asn,ENST00000487015,;OFCC1,missense_variant,p.Lys95Asn,ENST00000492094,;OFCC1,missense_variant,p.Lys72Asn,ENST00000469426,;	274	57	58	SUCCESS
NYAP1	222950	.	GRCh37	7	100086259	100086259	+	synonymous_variant	Silent	SNP	A	A	T	rs140403396	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	31	67	0	ENST00000300179.2:c.915A>T	p.Ser305=	p.S305=	ENST00000300179	NM_173564.3	305	tcA/tcT	0	C:0.0054	C:0.0106	.	C:0	.	T	S	protein_coding	YES	CCDS5696.1	915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGCCCT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22633:SF2,hmmpanther:PTHR22633,Pfam_domain:PF15439	C:0	C:0	ENSP00000300179	C:0	4/7	.	.	.	.	.	.	.	.	rs140403396	4/7	PASS	ENST00000300179	Transcript	.	C:0.0028	ENSG00000166924	22009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	NYAP1_HUMAN	NYAP1	HGNC	.	.	UPI00001C0A2E	SNV	NYAP1,synonymous_variant,p.%3D,ENST00000454988,;NYAP1,synonymous_variant,p.%3D,ENST00000423930,;NYAP1,synonymous_variant,p.%3D,ENST00000300179,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;	1074	67	57	SUCCESS
ZAN	7455	.	GRCh37	7	100349862	100349862	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	41	98	0	ENST00000546292.1:c.2134A>G	p.Ile712Val	p.I712V	ENST00000546292	NM_173059.1	712	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	.	2134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCATCTCC	NONE	.	.	.	.	.	ENSP00000445943	.	13/46	.	.	.	.	.	.	.	.	.	13/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Ile712Val,ENST00000546292,;ZAN,missense_variant,p.Ile712Val,ENST00000542585,;ZAN,missense_variant,p.Ile712Val,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Ile712Val,ENST00000421100,;ZAN,missense_variant,p.Ile712Val,ENST00000349350,;ZAN,missense_variant,p.Ile712Val,ENST00000427578,;ZAN,missense_variant,p.Ile712Val,ENST00000348028,;ZAN,missense_variant,p.Ile712Val,ENST00000449052,;ZAN,missense_variant,p.Ile712Val,ENST00000443370,;	2282	98	83	SUCCESS
ZAN	7455	.	GRCh37	7	100365533	100365533	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	115	0	ENST00000546292.1:c.4940T>C	p.Leu1647Pro	p.L1647P	ENST00000546292	NM_173059.1	1647	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	.	4940	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTCCTCT	BUFFER|p.T1650T|c.4950G>A|3,BUFFER|p.T227T|c.681G>A|3,BUFFER|p.T1650T|c.4950G>A|3	.	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	.	.	ENSP00000445943	.	25/46	.	.	.	.	.	.	.	.	.	25/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,missense_variant,p.Leu224Pro,ENST00000546213,;ZAN,missense_variant,p.Leu1647Pro,ENST00000546292,;ZAN,missense_variant,p.Leu1647Pro,ENST00000542585,;ZAN,missense_variant,p.Leu1647Pro,ENST00000538115,;ZAN,missense_variant,p.Leu1647Pro,ENST00000421100,;ZAN,missense_variant,p.Leu1647Pro,ENST00000349350,;ZAN,missense_variant,p.Leu1647Pro,ENST00000427578,;ZAN,missense_variant,p.Leu1647Pro,ENST00000348028,;ZAN,missense_variant,p.Leu1647Pro,ENST00000449052,;ZAN,missense_variant,p.Leu1647Pro,ENST00000443370,;	5088	115	97	SUCCESS
MUC17	140453	.	GRCh37	7	100674961	100674961	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769975461	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	55	111	0	ENST00000306151.4:c.264C>A	p.Asn88Lys	p.N88K	ENST00000306151	NM_001040105.1	88	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS34711.1	264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAACCCTGA	NONE	byFrequency	.	.	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	rs769975461	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Asn88Lys,ENST00000306151,;MUC17,missense_variant,p.Asn88Lys,ENST00000379439,;	328	111	104	SUCCESS
MUC17	140453	.	GRCh37	7	100685847	100685847	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs758971023	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	31	0	ENST00000306151.4:c.11150C>A	p.Pro3717His	p.P3717H	ENST00000306151	NM_001040105.1	3717	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS34711.1	11150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACCTTCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000302716	.	3/13	.	.	.	.	.	.	.	.	rs758971023	3/13	PASS	ENST00000306151	Transcript	.	.	ENSG00000169876	16800	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.893)	.	.	.	MUC17_HUMAN	MUC17	HGNC	A1A4F7_HUMAN	.	UPI0000D5BB56	SNV	MUC17,missense_variant,p.Pro3717His,ENST00000306151,;MUC17,missense_variant,p.Pro3717His,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	11214	31	28	SUCCESS
SLC26A4	5172	.	GRCh37	7	107329628	107329628	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs750407802	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	81	0	ENST00000265715.3:c.1132A>C	p.Thr378Pro	p.T378P	ENST00000265715	NM_000441.1	378	Acc/Ccc	0	.	.	.	.	.	C	T/P	protein_coding	YES	CCDS5746.1	1132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACACCATC	NONE	byFrequency	.	hmmpanther:PTHR11814:SF33,hmmpanther:PTHR11814,Pfam_domain:PF00916,TIGRFAM_domain:TIGR00815	.	.	ENSP00000265715	.	9/21	.	.	.	.	.	.	.	.	rs750407802	9/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.6)	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,missense_variant,p.Thr378Pro,ENST00000265715,;SLC26A4,upstream_gene_variant,,ENST00000544569,;SLC26A4,upstream_gene_variant,,ENST00000543100,;SLC26A4,upstream_gene_variant,,ENST00000541474,;SLC26A4,upstream_gene_variant,,ENST00000480841,;SLC26A4,upstream_gene_variant,,ENST00000477350,;SLC26A4,upstream_gene_variant,,ENST00000460748,;SLC26A4,upstream_gene_variant,,ENST00000497446,;	1356	81	64	SUCCESS
TMEM168	64418	.	GRCh37	7	112407617	112407617	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	93	0	ENST00000312814.6:c.1729A>G	p.Ile577Val	p.I577V	ENST00000312814	NM_001287497.1	577	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS5757.1	1729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAATATCTA	NONE	.	.	hmmpanther:PTHR14437:SF2,hmmpanther:PTHR14437	.	.	ENSP00000323068	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000312814	Transcript	.	.	ENSG00000146802	25826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TM168_HUMAN	TMEM168	HGNC	C9JVE9_HUMAN,C9IZT1_HUMAN,B4DDS0_HUMAN	.	UPI000004DACB	SNV	TMEM168,missense_variant,p.Ile138Val,ENST00000418785,;TMEM168,missense_variant,p.Ile577Val,ENST00000454074,;TMEM168,missense_variant,p.Ile193Val,ENST00000447395,;TMEM168,missense_variant,p.Ile577Val,ENST00000312814,;	2290	93	63	SUCCESS
GPR85	54329	.	GRCh37	7	112724069	112724069	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	65	0	ENST00000297146.3:c.708T>A	p.Ser236Arg	p.S236R	ENST00000297146	NM_001146266.1	236	agT/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS5758.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCACTGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Pfam_domain:PF00001	.	.	ENSP00000297146	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297146	Transcript	.	.	ENSG00000164604	4536	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0.01)	.	GPR85_HUMAN	GPR85	HGNC	C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN	.	UPI0000004048	SNV	GPR85,missense_variant,p.Ser236Arg,ENST00000297146,;GPR85,missense_variant,p.Ser236Arg,ENST00000501255,;GPR85,missense_variant,p.Ser236Arg,ENST00000424100,;GPR85,missense_variant,p.Ser236Arg,ENST00000449591,;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Ser236Arg,ENST00000610164,;	1312	65	55	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113519017	113519017	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	72	0	ENST00000284601.3:c.2130C>A	p.Cys710Ter	p.C710*	ENST00000284601	NM_002711.3	710	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS5759.1	2130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAGCACAC	NONE	.	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,stop_gained,p.Cys710Ter,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	2199	72	52	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113520088	113520088	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	61	126	0	ENST00000284601.3:c.1059A>T	p.Ala353=	p.A353=	ENST00000284601	NM_002711.3	353	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5759.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGCTTT	NONE	.	.	hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,synonymous_variant,p.%3D,ENST00000284601,;PPP1R3A,synonymous_variant,p.%3D,ENST00000449795,;PPP1R3A,3_prime_UTR_variant,,ENST00000284602,;	1128	126	133	SUCCESS
NAA38	84316	.	GRCh37	7	117828430	117828430	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	62	0	ENST00000249299.2:c.171A>T	p.Leu57=	p.L57=	ENST00000249299	NM_016200.4	57	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5775.1	171	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTAGGATT	NONE	.	.	hmmpanther:PTHR15588,Pfam_domain:PF01423,Gene3D:2.30.30.100,SMART_domains:SM00651,Superfamily_domains:SSF50182	.	.	ENSP00000249299	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	SNV	NAA38,synonymous_variant,p.%3D,ENST00000411938,;NAA38,synonymous_variant,p.%3D,ENST00000249299,;NAA38,synonymous_variant,p.%3D,ENST00000424702,;NAA38,synonymous_variant,p.%3D,ENST00000422760,;	363	62	60	SUCCESS
PTPRZ1	5803	.	GRCh37	7	121684539	121684539	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760642364	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	35	63	0	ENST00000393386.2:c.6001C>A	p.Leu2001Met	p.L2001M	ENST00000393386	NM_001206838.1	2001	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS34740.1	6001	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCTGGAC	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	.	.	ENSP00000377047	.	23/30	.	.	.	.	.	.	.	.	rs760642364	23/30	PASS	ENST00000393386	Transcript	.	.	ENSG00000106278	9685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.06)	.	PTPRZ_HUMAN	PTPRZ1	HGNC	.	.	UPI000020F9BB	SNV	PTPRZ1,missense_variant,p.Leu1134Met,ENST00000449182,;PTPRZ1,missense_variant,p.Leu2001Met,ENST00000393386,;PTPRZ1,downstream_gene_variant,,ENST00000470504,;	6412	63	74	SUCCESS
RNF148	378925	.	GRCh37	7	122342188	122342188	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	20	40	0	ENST00000434824.1:c.617A>G	p.Tyr206Cys	p.Y206C	ENST00000434824	NM_198085.1	206	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS47692.1	617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGTAAAAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22765:SF31,hmmpanther:PTHR22765	.	.	ENSP00000388207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434824	Transcript	.	.	ENSG00000235631	22411	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.02)	.	RN148_HUMAN	RNF148	HGNC	A4D0X4_HUMAN	.	UPI000006FF1E	SNV	RNF148,missense_variant,p.Tyr206Cys,ENST00000434824,;RNF148,intron_variant,,ENST00000447240,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000412584,;CADPS2,intron_variant,,ENST00000313070,;RNF133,upstream_gene_variant,,ENST00000340112,;	834	40	41	SUCCESS
SPAM1	6677	.	GRCh37	7	123593884	123593884	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	99	0	ENST00000223028.7:c.260G>T	p.Gly87Val	p.G87V	ENST00000223028		87	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS5790.1	260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGTGTTA	NONE	.	.	hmmpanther:PTHR11769:SF20,hmmpanther:PTHR11769,Pfam_domain:PF01630,Gene3D:3.20.20.70,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445	.	.	ENSP00000345849	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000340011	Transcript	.	.	ENSG00000106304	11217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	.	tolerated(0.29)	.	HYALP_HUMAN	SPAM1	HGNC	C9J2X5_HUMAN	.	UPI0000072166	SNV	SPAM1,missense_variant,p.Gly87Val,ENST00000223028,;SPAM1,missense_variant,p.Gly87Val,ENST00000460182,;SPAM1,missense_variant,p.Gly87Val,ENST00000439500,;SPAM1,missense_variant,p.Gly87Val,ENST00000340011,;SPAM1,missense_variant,p.Gly87Val,ENST00000402183,;SPAM1,downstream_gene_variant,,ENST00000413927,;	617	99	84	SUCCESS
PAX4	5078	.	GRCh37	7	127251726	127251726	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs529976183	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	26	0	ENST00000341640.2:c.752C>A	p.Ser251Tyr	p.S251Y	ENST00000341640	NM_006193.2	251	tCc/tAc	0	.	A:0.0008	.	A:0	.	T	S/Y	protein_coding	YES	CCDS5797.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGACTGC	NONE	by1000G	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14	A:0	.	ENSP00000339906	A:0	8/9	.	.	.	.	.	.	.	.	rs529976183	8/9	PASS	ENST00000341640	Transcript	.	A:0.0002	ENSG00000106331	8618	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.739)	A:0	tolerated(0.44)	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,missense_variant,p.Ser249Tyr,ENST00000463946,;PAX4,missense_variant,p.Ser251Tyr,ENST00000378740,;PAX4,missense_variant,p.Ser251Tyr,ENST00000341640,;PAX4,synonymous_variant,p.%3D,ENST00000338516,;PAX4,3_prime_UTR_variant,,ENST00000483494,;PAX4,downstream_gene_variant,,ENST00000477423,;	958	26	20	SUCCESS
SND1	27044	.	GRCh37	7	127638003	127638003	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	77	0	ENST00000354725.3:c.1779+6894A>T		p.*593*	ENST00000354725	NM_014390.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACAGCACC	NONE	.	.	.	.	.	ENSP00000346762	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354725	Transcript	.	.	ENSG00000197157	30646	.	.	MODIFIER	16/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SND1_HUMAN	SND1	HGNC	B2R5U1_HUMAN	.	UPI00000727E5	SNV	SND1,intron_variant,,ENST00000354725,;SND1,intron_variant,,ENST00000486037,;SND1,non_coding_transcript_exon_variant,,ENST00000467238,;SND1,intron_variant,,ENST00000484767,;SND1,intron_variant,,ENST00000470723,;	.	77	69	SUCCESS
LRRC4	64101	.	GRCh37	7	127670231	127670231	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	57	0	ENST00000249363.3:c.463C>T	p.Arg155Cys	p.R155C	ENST00000249363	NM_022143.4	155	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5799.1	463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCGAAGCC	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF9,hmmpanther:PTHR24369,Pfam_domain:PF13306,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000249363	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249363	Transcript	.	.	ENSG00000128594	15586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRRC4_HUMAN	LRRC4	HGNC	C9JA92_HUMAN,C9J7V8_HUMAN,C9J7K7_HUMAN	.	UPI0000049DF3	SNV	LRRC4,missense_variant,p.Arg155Cys,ENST00000249363,;LRRC4,missense_variant,p.Arg73Cys,ENST00000494115,;SND1,intron_variant,,ENST00000354725,;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000478726,;LRRC4,downstream_gene_variant,,ENST00000476782,;SND1,intron_variant,,ENST00000484767,;SND1,intron_variant,,ENST00000470723,;	721	57	36	SUCCESS
CCDC136	64753	.	GRCh37	7	128449649	128449649	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs778362626	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	56	138	0	ENST00000297788.4:c.1751A>T	p.Glu584Val	p.E584V	ENST00000297788	NM_022742.4	584	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS47704.1	1751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	11/18	.	.	.	.	.	.	.	.	rs778362626	11/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,missense_variant,p.Glu584Val,ENST00000297788,;CCDC136,missense_variant,p.Glu461Val,ENST00000494552,;CCDC136,missense_variant,p.Glu175Val,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,non_coding_transcript_exon_variant,,ENST00000460941,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000485832,;	2118	138	111	SUCCESS
FLNC	2318	.	GRCh37	7	128488063	128488063	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	46	139	0	ENST00000325888.8:c.4521A>T	p.Pro1507=	p.P1507=	ENST00000325888	NM_001458.4	1507	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43644.1	4521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCAGCCAC	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Pfam_domain:PF00630,Gene3D:2.60.40.10,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	26/48	.	.	.	.	.	.	.	.	.	26/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;	4782	139	125	SUCCESS
FLNC	2318	.	GRCh37	7	128494857	128494857	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	19	61	0	ENST00000325888.8:c.7026T>A	p.Ala2342=	p.A2342=	ENST00000325888	NM_001458.4	2342	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS43644.1	7026	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGGCGC	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	42/48	.	.	.	.	.	.	.	.	.	42/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;RP11-309L24.2,intron_variant,,ENST00000469965,;	7287	61	50	SUCCESS
SSMEM1	136263	.	GRCh37	7	129847933	129847933	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs1394216169	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	33	54	0	ENST00000297819.3:c.183G>T	p.Trp61Cys	p.W61C	ENST00000297819	NM_145268.3	61	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS5816.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGGTAGG	NONE	.	.	hmmpanther:PTHR31822:SF1,hmmpanther:PTHR31822,Pfam_domain:PF15468	.	.	ENSP00000297819	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000297819	Transcript	.	.	ENSG00000165120	29580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	SSMM1_HUMAN	SSMEM1	HGNC	A4D1L0_HUMAN	.	UPI00000706B0	SNV	SSMEM1,missense_variant,p.Trp61Cys,ENST00000297819,;TMEM209,upstream_gene_variant,,ENST00000336804,;TMEM209,upstream_gene_variant,,ENST00000473456,;TMEM209,upstream_gene_variant,,ENST00000397622,;TMEM209,upstream_gene_variant,,ENST00000471077,;TMEM209,upstream_gene_variant,,ENST00000471985,;TMEM209,upstream_gene_variant,,ENST00000462753,;RP11-775D22.3,downstream_gene_variant,,ENST00000483283,;	234	54	64	SUCCESS
CALD1	800	.	GRCh37	7	134613624	134613624	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	38	86	0	ENST00000361675.2:c.191A>T	p.Asp64Val	p.D64V	ENST00000361675		64	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS5835.1	191	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCGACCAGG	NONE	.	.	hmmpanther:PTHR18949:SF0,hmmpanther:PTHR18949,Pfam_domain:PF02029	.	.	ENSP00000354826	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000361675	Transcript	.	.	ENSG00000122786	1441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	CALD1_HUMAN	CALD1	HGNC	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN	.	UPI0000140A64	SNV	CALD1,missense_variant,p.Asp64Val,ENST00000454108,;CALD1,missense_variant,p.Asp64Val,ENST00000361901,;CALD1,missense_variant,p.Asp64Val,ENST00000361675,;CALD1,missense_variant,p.Asp58Val,ENST00000495522,;CALD1,missense_variant,p.Asp64Val,ENST00000436461,;CALD1,missense_variant,p.Asp58Val,ENST00000393118,;CALD1,missense_variant,p.Asp64Val,ENST00000422748,;CALD1,missense_variant,p.Asp78Val,ENST00000445569,;CALD1,missense_variant,p.Asp69Val,ENST00000543443,;CALD1,missense_variant,p.Asp64Val,ENST00000435928,;CALD1,missense_variant,p.Asp64Val,ENST00000361388,;CALD1,missense_variant,p.Asp64Val,ENST00000417172,;CALD1,missense_variant,p.Asp58Val,ENST00000424922,;CALD1,non_coding_transcript_exon_variant,,ENST00000496024,;CALD1,missense_variant,p.Asp58Val,ENST00000443197,;CALD1,missense_variant,p.Asp64Val,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;	420	86	79	SUCCESS
SLC13A4	26266	.	GRCh37	7	135378973	135378973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	30	0	ENST00000354042.4:c.1030T>A	p.Cys344Ser	p.C344S	ENST00000354042	NM_012450.2	344	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS5840.1	1030	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCAGGTCT	NONE	.	.	Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	.	.	ENSP00000297282	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000354042	Transcript	.	.	ENSG00000164707	15827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.137)	.	tolerated(0.13)	.	S13A4_HUMAN	SLC13A4	HGNC	.	.	UPI00000343D9	SNV	SLC13A4,missense_variant,p.Cys344Ser,ENST00000354042,;C7orf73,downstream_gene_variant,,ENST00000509448,;C7orf73,downstream_gene_variant,,ENST00000422968,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;	1720	30	47	SUCCESS
CHRM2	1129	.	GRCh37	7	136700927	136700927	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	60	154	0	ENST00000320658.5:c.1315T>A	p.Cys439Ser	p.C439S	ENST00000320658	NM_001006632.1	439	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS5843.1	1315	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCTAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,missense_variant,p.Cys439Ser,ENST00000320658,;CHRM2,missense_variant,p.Cys439Ser,ENST00000401861,;CHRM2,missense_variant,p.Cys439Ser,ENST00000397608,;CHRM2,missense_variant,p.Cys439Ser,ENST00000402486,;CHRM2,missense_variant,p.Cys439Ser,ENST00000453373,;CHRM2,missense_variant,p.Cys439Ser,ENST00000445907,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	1843	154	142	SUCCESS
DGKI	9162	.	GRCh37	7	137170144	137170144	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	89	216	0	ENST00000288490.5:c.2403T>A	p.Ser801=	p.S801=	ENST00000288490	NM_004717.2	801	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5845.1	2403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGAAGA	NONE	.	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41	.	.	ENSP00000288490	.	24/34	.	.	.	.	.	.	.	.	.	24/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,synonymous_variant,p.%3D,ENST00000288490,;DGKI,synonymous_variant,p.%3D,ENST00000424189,;DGKI,synonymous_variant,p.%3D,ENST00000453654,;DGKI,synonymous_variant,p.%3D,ENST00000446122,;DGKI,intron_variant,,ENST00000460662,;	2404	216	177	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138749665	138749665	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	32	53	0	ENST00000242351.5:c.1953A>G	p.Pro651=	p.P651=	ENST00000242351	NM_020119.3	651	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5851.1	1953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATGGCAC	NONE	.	.	PROSITE_profiles:PS50918,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49,Superfamily_domains:SSF117839	.	.	ENSP00000242351	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,synonymous_variant,p.%3D,ENST00000471652,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000464606,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000460845,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000242351,;	2270	53	65	SUCCESS
DENND2A	27147	.	GRCh37	7	140301960	140301960	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	59	195	0	ENST00000275884.6:c.238G>T	p.Val80Leu	p.V80L	ENST00000275884		80	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS43659.1	238	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACCGTAG	NONE	.	.	.	.	.	ENSP00000275884	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000275884	Transcript	.	.	ENSG00000146966	22212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.73)	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,missense_variant,p.Val80Leu,ENST00000496613,;DENND2A,missense_variant,p.Val80Leu,ENST00000537639,;DENND2A,missense_variant,p.Val80Leu,ENST00000275884,;DENND2A,missense_variant,p.Val80Leu,ENST00000491728,;DENND2A,missense_variant,p.Val80Leu,ENST00000492720,;DENND2A,missense_variant,p.Val80Leu,ENST00000489552,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,downstream_gene_variant,,ENST00000477488,;DENND2A,missense_variant,p.Val80Leu,ENST00000461883,;	656	195	144	SUCCESS
DENND2A	27147	.	GRCh37	7	140301961	140301961	+	synonymous_variant	Silent	SNP	C	C	A	rs368178368	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	60	197	0	ENST00000275884.6:c.237G>T	p.Thr79=	p.T79=	ENST00000275884		79	acG/acT	0	.	G:0	.	G:0	.	A	T	protein_coding	YES	CCDS43659.1	237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCGTAGA	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000275884	G:0	2/19	.	.	.	.	.	.	.	.	rs368178368	2/19	PASS	ENST00000275884	Transcript	.	G:0.0038	ENSG00000146966	22212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0194	.	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,synonymous_variant,p.%3D,ENST00000496613,;DENND2A,synonymous_variant,p.%3D,ENST00000537639,;DENND2A,synonymous_variant,p.%3D,ENST00000275884,;DENND2A,synonymous_variant,p.%3D,ENST00000491728,;DENND2A,synonymous_variant,p.%3D,ENST00000492720,;DENND2A,synonymous_variant,p.%3D,ENST00000489552,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,downstream_gene_variant,,ENST00000477488,;DENND2A,synonymous_variant,p.%3D,ENST00000461883,;	655	197	145	SUCCESS
WEE2-AS1	285962	.	GRCh37	7	141427034	141427034	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	38	0	ENST00000488785.1:n.517A>G		p.*173*	ENST00000488785				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43660.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTTGGCTT	NONE	.	.	.	.	.	ENSP00000380675	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397541	Transcript	.	.	ENSG00000214102	19684	.	.	MODIFIER	9/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	WEE2_HUMAN	WEE2	HGNC	.	.	UPI000004E9D3	SNV	WEE2,intron_variant,,ENST00000493845,;WEE2,intron_variant,,ENST00000397541,;RNU1-82P,upstream_gene_variant,,ENST00000390851,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000488785,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000478332,;WEE2-AS1,intron_variant,,ENST00000484172,;WEE2-AS1,intron_variant,,ENST00000486906,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000459753,;WEE2-AS1,intron_variant,,ENST00000471512,;WEE2-AS1,intron_variant,,ENST00000465110,;WEE2-AS1,intron_variant,,ENST00000462383,;WEE2-AS1,downstream_gene_variant,,ENST00000473776,;	.	38	30	SUCCESS
PRSS58	136541	.	GRCh37	7	141952141	141952141	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	114	0	ENST00000547058.2:c.626T>G	p.Leu209Arg	p.L209R	ENST00000547058	NM_001001317.3	209	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS5871.1	626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAGGATT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF46,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000446916	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000552471	Transcript	.	.	ENSG00000258223	39125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PRS58_HUMAN	PRSS58	HGNC	.	.	UPI000004C649	SNV	PRSS58,missense_variant,p.Leu209Arg,ENST00000547058,;PRSS58,missense_variant,p.Leu209Arg,ENST00000552471,;	946	114	110	SUCCESS
TRPV5	56302	.	GRCh37	7	142612494	142612494	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	75	244	0	ENST00000265310.1:c.1269G>T	p.Gly423=	p.G423=	ENST00000265310	NM_019841.4	423	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5875.1	1269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCCCCCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520,Prints_domain:PR01765	.	.	ENSP00000265310	.	10/15	.	.	.	.	.	.	.	.	COSM1643270	10/15	PASS	ENST00000265310	Transcript	.	.	ENSG00000127412	3145	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TRPV5_HUMAN	TRPV5	HGNC	Q9H480_HUMAN	.	UPI0000052B76	SNV	TRPV5,synonymous_variant,p.%3D,ENST00000439304,;TRPV5,synonymous_variant,p.%3D,ENST00000265310,;	1618	244	171	SUCCESS
FAM131B	9715	.	GRCh37	7	143054107	143054107	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	126	0	ENST00000409222.3:c.535G>T	p.Ala179Ser	p.A179S	ENST00000409222	NM_014690.4	179	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS47734.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGCCAGGG	NONE	.	.	hmmpanther:PTHR15736:SF9,hmmpanther:PTHR15736,Pfam_domain:PF15010	.	.	ENSP00000410603	.	7/7	.	.	.	.	.	.	.	.	COSM452531,COSM452530	7/7	PASS	ENST00000443739	Transcript	.	.	ENSG00000159784	22202	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.547)	.	tolerated(0.75)	1,1	F131B_HUMAN	FAM131B	HGNC	D3DXE4_HUMAN	.	UPI0001633639	SNV	FAM131B,missense_variant,p.Ala207Ser,ENST00000443739,;FAM131B,missense_variant,p.Ala179Ser,ENST00000409408,;FAM131B,missense_variant,p.Ala179Ser,ENST00000409346,;FAM131B,missense_variant,p.Ala195Ser,ENST00000409578,;FAM131B,missense_variant,p.Ala179Ser,ENST00000409222,;CLCN1,downstream_gene_variant,,ENST00000343257,;FAM131B,3_prime_UTR_variant,,ENST00000519279,;FAM131B,3_prime_UTR_variant,,ENST00000410085,;FAM131B,downstream_gene_variant,,ENST00000521347,;FAM131B,downstream_gene_variant,,ENST00000519161,;	768	127	90	SUCCESS
OR2A1	346528	.	GRCh37	7	144015436	144015436	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	33	175	0	ENST00000408951.1:c.219C>T	p.Thr73=	p.T73=	ENST00000408951	NM_001005287.1	73	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43673.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACCCGCAA	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF137,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	.	.	ENSP00000386175	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408951	Transcript	.	.	ENSG00000221970	8229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2A1_HUMAN	OR2A1	HGNC	H9XFB2_HUMAN,H9XFB1_HUMAN,H9XFB0_HUMAN,H9XFA9_HUMAN	.	UPI0000041DF3	SNV	OR2A1,synonymous_variant,p.%3D,ENST00000408951,;OR2A1-AS1,intron_variant,,ENST00000486094,;OR2A1-AS1,intron_variant,,ENST00000493539,;OR2A1-AS1,intron_variant,,ENST00000496968,;OR2A1-AS1,intron_variant,,ENST00000475089,;OR2A1-AS1,intron_variant,,ENST00000478806,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000467944,;OR2A1-AS1,intron_variant,,ENST00000488041,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,downstream_gene_variant,,ENST00000478925,;	219	175	133	SUCCESS
ARHGEF5	7984	.	GRCh37	7	144074266	144074266	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	62	257	0	ENST00000056217.5:c.4514A>T	p.Asp1505Val	p.D1505V	ENST00000056217	NM_005435.3	1505	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS34771.1	4514	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGGACCTTC	NONE	.	.	hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Superfamily_domains:SSF50729	.	.	ENSP00000056217	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000056217	Transcript	.	.	ENSG00000050327	13209	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	ARHG5_HUMAN	ARHGEF5	HGNC	H9XFB6_HUMAN	.	UPI00004028DC	SNV	ARHGEF5,missense_variant,p.Asp1505Val,ENST00000056217,;ARHGEF5,missense_variant,p.Asp427Val,ENST00000471847,;ARHGEF5,missense_variant,p.Asp705Val,ENST00000474817,;	4688	257	209	SUCCESS
KRBA1	84626	.	GRCh37	7	149420891	149420891	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs757655966	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	41	136	0	ENST00000319551.8:c.839C>A	p.Pro280His	p.P280H	ENST00000319551		280	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	.	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCGAGG	NONE	byFrequency	.	Pfam_domain:PF15287,hmmpanther:PTHR22740	.	.	ENSP00000255992	.	8/18	.	.	.	.	.	.	.	.	rs757655966	8/18	PASS	ENST00000255992	Transcript	.	.	ENSG00000133619	22228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	.	KRBA1	HGNC	C9J5U6_HUMAN,C4P1W5_HUMAN	.	UPI000049E0A4	SNV	KRBA1,missense_variant,p.Pro280His,ENST00000485033,;KRBA1,missense_variant,p.Pro280His,ENST00000319551,;KRBA1,missense_variant,p.Pro280His,ENST00000255992,;KRBA1,downstream_gene_variant,,ENST00000486744,;KRBA1,downstream_gene_variant,,ENST00000497895,;KRBA1,downstream_gene_variant,,ENST00000467333,;KRBA1,non_coding_transcript_exon_variant,,ENST00000479560,;KRBA1,non_coding_transcript_exon_variant,,ENST00000466546,;KRBA1,missense_variant,p.Pro237His,ENST00000496259,;KRBA1,non_coding_transcript_exon_variant,,ENST00000496080,;	1238	136	92	SUCCESS
GIMAP4	55303	.	GRCh37	7	150269617	150269617	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	108	1	ENST00000255945.2:c.459C>A	p.Phe153Leu	p.F153L	ENST00000255945	NM_018326.2	153	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS5904.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTCACCCG	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF04548,Gene3D:3.40.50.300,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF38,PROSITE_profiles:PS51720	.	.	ENSP00000255945	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000255945	Transcript	.	.	ENSG00000133574	21872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.364)	.	tolerated(0.1)	.	GIMA4_HUMAN	GIMAP4	HGNC	.	.	UPI0000073CB0	SNV	GIMAP4,missense_variant,p.Phe153Leu,ENST00000255945,;GIMAP4,missense_variant,p.Phe167Leu,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000478135,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;	634	109	82	SUCCESS
DNAJB6	10049	.	GRCh37	7	157160147	157160147	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	65	0	ENST00000262177.4:c.316G>T	p.Gly106Ter	p.G106*	ENST00000262177	NM_058246.3	106	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS5946.1	316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTGGAAGG	NONE	.	.	hmmpanther:PTHR24077:SF238,hmmpanther:PTHR24077	.	.	ENSP00000262177	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000262177	Transcript	.	.	ENSG00000105993	14888	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,stop_gained,p.Gly106Ter,ENST00000429029,;DNAJB6,stop_gained,p.Gly106Ter,ENST00000441561,;DNAJB6,stop_gained,p.Gly57Ter,ENST00000452797,;DNAJB6,stop_gained,p.Gly106Ter,ENST00000412557,;DNAJB6,stop_gained,p.Gly106Ter,ENST00000443280,;DNAJB6,stop_gained,p.Gly106Ter,ENST00000417758,;DNAJB6,stop_gained,p.Gly106Ter,ENST00000262177,;DNAJB6,downstream_gene_variant,,ENST00000437030,;DNAJB6,downstream_gene_variant,,ENST00000453383,;DNAJB6,downstream_gene_variant,,ENST00000439402,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000488001,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000486083,;DNAJB6,upstream_gene_variant,,ENST00000465908,;DNAJB6,stop_gained,p.Gly106Ter,ENST00000441291,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000459889,;DNAJB6,upstream_gene_variant,,ENST00000468928,;	521	65	54	SUCCESS
VIPR2	7434	.	GRCh37	7	158823467	158823467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	49	0	ENST00000262178.2:c.1157T>A	p.Leu386Gln	p.L386Q	ENST00000262178	NM_003382.4	386	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS5950.1	1157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGCTCG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000262178	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000262178	Transcript	.	.	ENSG00000106018	12695	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	VIPR2_HUMAN	VIPR2	HGNC	Q71V81_HUMAN	.	UPI0000055A9A	SNV	VIPR2,missense_variant,p.Leu386Gln,ENST00000262178,;VIPR2,missense_variant,p.Leu370Gln,ENST00000377633,;VIPR2,missense_variant,p.Leu527Gln,ENST00000402066,;LINC00689,downstream_gene_variant,,ENST00000413238,;LINC00689,downstream_gene_variant,,ENST00000438049,;	1343	49	25	SUCCESS
FERD3L	222894	.	GRCh37	7	19184845	19184845	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	39	0	ENST00000275461.3:c.141A>T	p.Arg47=	p.R47=	ENST00000275461	NM_152898.2	47	cgA/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS5368.1	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTCGGAG	NONE	.	.	hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF46	.	.	ENSP00000275461	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000275461	Transcript	.	.	ENSG00000146618	16660	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FER3L_HUMAN	FERD3L	HGNC	.	.	UPI0000073BBA	SNV	FERD3L,synonymous_variant,p.%3D,ENST00000275461,;AC003986.5,non_coding_transcript_exon_variant,,ENST00000452700,;	200	39	32	SUCCESS
MACC1	346389	.	GRCh37	7	20193914	20193914	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	89	0	ENST00000332878.4:c.2248T>A	p.Trp750Arg	p.W750R	ENST00000332878		750	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS5369.1	2248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCAGCCTT	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Trp750Arg,ENST00000589011,;MACC1,missense_variant,p.Trp750Arg,ENST00000400331,;MACC1,missense_variant,p.Trp750Arg,ENST00000332878,;MACC1-AS1,downstream_gene_variant,,ENST00000439285,;	2557	89	91	SUCCESS
ABCB5	340273	.	GRCh37	7	20683101	20683101	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs753883618	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	10	97	0	ENST00000404938.2:c.524G>C	p.Ser175Thr	p.S175T	ENST00000404938	NM_001163941.1	175	aGt/aCt	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS55090.1	524	RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGTGATG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50929,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	.	.	ENSP00000384881	.	7/28	.	.	.	.	.	.	.	.	rs753883618	7/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.062)	.	deleterious(0.02)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Ser175Thr,ENST00000404938,;ABCB5,upstream_gene_variant,,ENST00000443026,;ABCB5,upstream_gene_variant,,ENST00000258738,;ABCB5,upstream_gene_variant,,ENST00000406935,;ABCB5,upstream_gene_variant,,ENST00000477094,;AC002486.3,upstream_gene_variant,,ENST00000435098,;	1176	97	92	SUCCESS
ABCB5	340273	.	GRCh37	7	20778743	20778743	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	52	0	ENST00000404938.2:c.3005G>T	p.Ser1002Ile	p.S1002I	ENST00000404938	NM_001163941.1	1002	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS55090.1	3005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCAGTCAAG	NONE	.	.	hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2	.	.	ENSP00000384881	.	24/28	.	.	.	.	.	.	.	.	.	24/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	.	deleterious(0)	.	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Ser557Ile,ENST00000258738,;ABCB5,missense_variant,p.Ser1002Ile,ENST00000404938,;ABCB5,missense_variant,p.Ser169Ile,ENST00000441315,;	3657	52	67	SUCCESS
DNAH11	8701	.	GRCh37	7	21630534	21630534	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	93	223	0	ENST00000409508.3:c.2170-2A>T		p.X724_splice	ENST00000409508	NM_001277115.1	724		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATAGCTAG	NONE	.	.	.	.	.	ENSP00000330671	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	HIGH	12/82	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,splice_acceptor_variant,,ENST00000328843,;DNAH11,splice_acceptor_variant,,ENST00000409508,;	.	223	183	SUCCESS
DNAH11	8701	.	GRCh37	7	21646303	21646303	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	57	0	ENST00000409508.3:c.3804T>C	p.Tyr1268=	p.Y1268=	ENST00000409508	NM_001277115.1	1268	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	.	3804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATGCCCC	NONE	.	.	hmmpanther:PTHR10676:SF227,hmmpanther:PTHR10676	.	.	ENSP00000330671	.	20/83	.	.	.	.	.	.	.	.	.	20/83	PASS	ENST00000328843	Transcript	.	.	ENSG00000105877	2942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH11_HUMAN	DNAH11	HGNC	Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN	.	UPI000041AC4D	SNV	DNAH11,synonymous_variant,p.%3D,ENST00000328843,;DNAH11,synonymous_variant,p.%3D,ENST00000409508,;	3835	57	48	SUCCESS
SNX8	29886	.	GRCh37	7	2317782	2317782	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	71	0	ENST00000222990.3:c.253A>G	p.Lys85Glu	p.K85E	ENST00000222990	NM_013321.2	85	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS5331.1	253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCTCCG	NONE	.	.	Superfamily_domains:SSF64268,SMART_domains:SM00312,Pfam_domain:PF00787,hmmpanther:PTHR10555:SF15,hmmpanther:PTHR10555,PROSITE_profiles:PS50195	.	.	ENSP00000222990	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000222990	Transcript	.	.	ENSG00000106266	14972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.458)	.	deleterious(0.01)	.	SNX8_HUMAN	SNX8	HGNC	C9JCB9_HUMAN,C9J8E6_HUMAN,C9J014_HUMAN,C9IYC5_HUMAN	.	UPI0000135B46	SNV	SNX8,missense_variant,p.Lys32Glu,ENST00000419693,;SNX8,missense_variant,p.Lys32Glu,ENST00000435336,;SNX8,missense_variant,p.Lys32Glu,ENST00000447136,;SNX8,missense_variant,p.Lys32Glu,ENST00000457286,;SNX8,missense_variant,p.Lys71Glu,ENST00000435060,;SNX8,missense_variant,p.Lys85Glu,ENST00000222990,;SNX8,non_coding_transcript_exon_variant,,ENST00000494722,;	296	71	57	SUCCESS
HOXA2	3199	.	GRCh37	7	27141915	27141915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	10	0	ENST00000222718.5:c.205G>T	p.Ala69Ser	p.A69S	ENST00000222718	NM_006735.3	69	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS5403.1	205	MUTECT|SOMATICSNIPER|MUSE	.	GCCAGCGCCGT	NONE	.	.	hmmpanther:PTHR24326:SF42,hmmpanther:PTHR24326	.	.	ENSP00000222718	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222718	Transcript	.	.	ENSG00000105996	5103	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(1)	.	HXA2_HUMAN	HOXA2	HGNC	.	.	UPI0000049C49	SNV	HOXA2,missense_variant,p.Ala69Ser,ENST00000222718,;HOXA3,downstream_gene_variant,,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000396352,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;	516	10	13	SUCCESS
HOXA13	3209	.	GRCh37	7	27238961	27238961	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	68	0	ENST00000222753.4:c.736A>G	p.Met246Val	p.M246V	ENST00000222753	NM_000522.4	246	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS5412.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCATGGGCT	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF119	.	.	ENSP00000222753	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000222753	Transcript	.	.	ENSG00000106031	5102	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	HXA13_HUMAN	HOXA13	HGNC	.	.	UPI000013C812	SNV	HOXA13,missense_variant,p.Met246Val,ENST00000222753,;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000521028,;HOTTIP,upstream_gene_variant,,ENST00000605136,;HOXA13,upstream_gene_variant,,ENST00000518136,;	765	68	71	SUCCESS
TAX1BP1	8887	.	GRCh37	7	27833956	27833956	+	synonymous_variant	Silent	SNP	T	T	C	rs1157994838	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	91	216	0	ENST00000396319.2:c.1425T>C	p.Asn475=	p.N475=	ENST00000396319	NM_006024.6	475	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS5415.1	1425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAATGTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF4	.	.	ENSP00000379612	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000396319	Transcript	.	.	ENSG00000106052	11575	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAXB1_HUMAN	TAX1BP1	HGNC	C9JBZ7_HUMAN,C9J7J4_HUMAN,A4D196_HUMAN	.	UPI00000723AD	SNV	TAX1BP1,synonymous_variant,p.%3D,ENST00000457186,;TAX1BP1,synonymous_variant,p.%3D,ENST00000396319,;TAX1BP1,synonymous_variant,p.%3D,ENST00000433216,;TAX1BP1,synonymous_variant,p.%3D,ENST00000265393,;TAX1BP1,synonymous_variant,p.%3D,ENST00000543117,;TAX1BP1,synonymous_variant,p.%3D,ENST00000409980,;TAX1BP1,3_prime_UTR_variant,,ENST00000416801,;	1513	216	214	SUCCESS
CPVL	54504	.	GRCh37	7	29103852	29103852	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	57	0	ENST00000265394.5:c.964-2A>T		p.X322_splice	ENST00000265394	NM_031311.3	322		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTGGCAG	NONE	.	.	.	.	.	ENSP00000387164	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409850	Transcript	.	.	ENSG00000106066	14399	.	.	HIGH	14/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPVL_HUMAN	CPVL	HGNC	Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN	.	UPI0000048F1B	SNV	CPVL,splice_acceptor_variant,,ENST00000265394,;CPVL,splice_acceptor_variant,,ENST00000432534,;CPVL,splice_acceptor_variant,,ENST00000409850,;CPVL,splice_acceptor_variant,,ENST00000396276,;CPVL,intron_variant,,ENST00000455893,;CPVL,downstream_gene_variant,,ENST00000448959,;	.	57	65	SUCCESS
CARD11	84433	.	GRCh37	7	2983944	2983944	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	114	0	ENST00000396946.4:c.586A>T	p.Lys196Ter	p.K196*	ENST00000396946	NM_032415.4	196	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5336.2	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTTGACCA	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	.	ENSP00000380150	.	5/25	.	.	.	.	.	.	.	.	.	5/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,stop_gained,p.Lys196Ter,ENST00000396946,;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,non_coding_transcript_exon_variant,,ENST00000423194,;	990	114	93	SUCCESS
CARD11	84433	.	GRCh37	7	2987406	2987406	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs368132142	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	41	97	0	ENST00000396946.4:c.23T>G	p.Met8Arg	p.M8R	ENST00000396946	NM_032415.4	8	aTg/aGg	0	C:0	.	.	.	.	C	M/R	protein_coding	YES	CCDS5336.2	23	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCATCTCT	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	.	C:0.0001	ENSP00000380150	.	3/25	.	.	.	.	.	.	.	.	rs368132142	3/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.421)	.	deleterious_low_confidence(0.01)	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,missense_variant,p.Met8Arg,ENST00000396946,;CARD11,missense_variant,p.Met8Arg,ENST00000356408,;AC004906.3,downstream_gene_variant,,ENST00000423194,;	427	97	95	SUCCESS
WIPF3	644150	.	GRCh37	7	29915478	29915478	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	63	230	0	ENST00000242140.5:c.123A>C	p.Ala41=	p.A41=	ENST00000242140		41	gcA/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS56472.1	123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCAGATCC	NONE	.	.	hmmpanther:PTHR23202:SF31,hmmpanther:PTHR23202	.	.	ENSP00000386878	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000409290	Transcript	.	.	ENSG00000122574	22004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPF3_HUMAN	WIPF3	HGNC	.	.	UPI00006C0B79	SNV	WIPF3,synonymous_variant,p.%3D,ENST00000409290,;WIPF3,synonymous_variant,p.%3D,ENST00000242140,;WIPF3,synonymous_variant,p.%3D,ENST00000409123,;	123	230	157	SUCCESS
CRHR2	1395	.	GRCh37	7	30739585	30739585	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	58	0	ENST00000348438.4:c.65G>A	p.Cys22Tyr	p.C22Y	ENST00000348438	NM_001202475.1	22	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS56478.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCAGAGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000340943	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000348438	Transcript	.	.	ENSG00000106113	2358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	deleterious_low_confidence(0.04)	.	CRFR2_HUMAN	CRHR2	HGNC	.	.	UPI000002A720	SNV	CRHR2,missense_variant,p.Cys22Tyr,ENST00000445981,;CRHR2,missense_variant,p.Cys22Tyr,ENST00000348438,;INMT,non_coding_transcript_exon_variant,,ENST00000461246,;CRHR2,non_coding_transcript_exon_variant,,ENST00000462882,;INMT,intron_variant,,ENST00000484180,;CRHR2,missense_variant,p.Cys22Tyr,ENST00000452278,;CRHR2,missense_variant,p.Cys22Tyr,ENST00000423776,;	135	58	35	SUCCESS
CCDC129	0	.	GRCh37	7	31692451	31692451	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	36	100	0	ENST00000451887.2:c.3067+154C>A		p.*1023*	ENST00000451887	NM_001257968.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59050.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCAGGTT	NONE	.	.	.	.	.	ENSP00000395835	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,splice_region_variant,,ENST00000409210,;CCDC129,3_prime_UTR_variant,,ENST00000319386,;CCDC129,3_prime_UTR_variant,,ENST00000407970,;CCDC129,intron_variant,,ENST00000451887,;CCDC129,splice_region_variant,,ENST00000463693,;	.	100	90	SUCCESS
PPP1R17	10842	.	GRCh37	7	31732116	31732116	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	36	80	0	ENST00000342032.3:c.61G>T	p.Asp21Tyr	p.D21Y	ENST00000342032	NM_006658.4	21	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS5436.1	61	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTAGACCCT	NONE	.	.	hmmpanther:PTHR15387:SF0,hmmpanther:PTHR15387	.	.	ENSP00000340125	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000342032	Transcript	.	.	ENSG00000106341	16973	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious_low_confidence(0)	.	PPR17_HUMAN	PPP1R17	HGNC	.	.	UPI000006D182	SNV	PPP1R17,missense_variant,p.Asp21Tyr,ENST00000342032,;PPP1R17,missense_variant,p.Asp21Tyr,ENST00000409146,;PPP1R17,upstream_gene_variant,,ENST00000498609,;	689	80	83	SUCCESS
PDE1C	5137	.	GRCh37	7	32109959	32109959	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	40	88	1	ENST00000321453.7:c.47T>A	p.Leu16Gln	p.L16Q	ENST00000321453	NM_001191059.1	16	cTg/cAg	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55100.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCAGAGAG	NONE	.	.	.	.	.	ENSP00000379496	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODIFIER	3/18	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Leu16Gln,ENST00000396184,;PDE1C,missense_variant,p.Leu16Gln,ENST00000396191,;PDE1C,missense_variant,p.Leu16Gln,ENST00000396189,;PDE1C,missense_variant,p.Leu16Gln,ENST00000321453,;PDE1C,missense_variant,p.Leu16Gln,ENST00000396182,;PDE1C,intron_variant,,ENST00000396193,;PDE1C,intron_variant,,ENST00000464881,;PDE1C,downstream_gene_variant,,ENST00000495221,;	.	89	100	SUCCESS
BMPER	168667	.	GRCh37	7	33976943	33976943	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	95	0	ENST00000297161.2:c.262T>C	p.Ser88Pro	p.S88P	ENST00000297161	NM_133468.4	88	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS5442.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGTCCCGA	NONE	.	.	hmmpanther:PTHR11339:SF254,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000297161	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000297161	Transcript	.	.	ENSG00000164619	24154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	BMPER_HUMAN	BMPER	HGNC	.	.	UPI000006D462	SNV	BMPER,missense_variant,p.Ser88Pro,ENST00000297161,;BMPER,missense_variant,p.Ser88Pro,ENST00000426693,;BMPER,intron_variant,,ENST00000436222,;BMPER,missense_variant,p.Ser88Pro,ENST00000444773,;BMPER,non_coding_transcript_exon_variant,,ENST00000496609,;	636	95	56	SUCCESS
DPY19L1	23333	.	GRCh37	7	35053222	35053222	+	synonymous_variant	Silent	SNP	G	G	A	rs184995902	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	105	210	0	ENST00000310974.4:c.288C>T	p.Pro96=	p.P96=	ENST00000310974	NM_015283.1	96	ccC/ccT	0	.	A:0	.	A:0.0014	.	A	P	protein_coding	YES	CCDS43567.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGGGGGTA	NONE	byCluster|by1000G	.	Pfam_domain:PF10034,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488	A:0	.	ENSP00000308695	A:0	4/22	.	.	.	.	.	.	.	.	rs184995902	4/22	PASS	ENST00000310974	Transcript	.	A:0.0002	ENSG00000173852	22205	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	D19L1_HUMAN	DPY19L1	HGNC	.	.	UPI000067CB92	SNV	DPY19L1,synonymous_variant,p.%3D,ENST00000310974,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000481923,;	433	210	221	SUCCESS
HERPUD2	64224	.	GRCh37	7	35733822	35733822	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	31	69	0	ENST00000311350.3:c.119A>T	p.His40Leu	p.H40L	ENST00000311350		40	cAt/cTt	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5446.1	119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGATGCGTT	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00213,Pfam_domain:PF00240,Gene3D:3.10.20.90,hmmpanther:PTHR12943:SF5,hmmpanther:PTHR12943,PROSITE_profiles:PS50053	.	.	ENSP00000379390	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000396081	Transcript	.	.	ENSG00000122557	21915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	HERP2_HUMAN	HERPUD2	HGNC	.	.	UPI000013F159	SNV	HERPUD2,missense_variant,p.His40Leu,ENST00000311350,;HERPUD2,missense_variant,p.His40Leu,ENST00000396081,;HERPUD2,missense_variant,p.His40Leu,ENST00000427455,;HERPUD2,missense_variant,p.His40Leu,ENST00000413517,;HERPUD2,missense_variant,p.His40Leu,ENST00000438224,;HERPUD2,downstream_gene_variant,,ENST00000603731,;RP11-379H18.1,upstream_gene_variant,,ENST00000605778,;	924	69	56	SUCCESS
ANLN	54443	.	GRCh37	7	36436005	36436005	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	64	176	0	ENST00000265748.2:c.149A>T	p.Gln50Leu	p.Q50L	ENST00000265748	NM_018685.2	50	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS5447.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCAGCAGC	NONE	.	.	hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20	.	.	ENSP00000265748	.	2/24	.	.	.	.	.	.	.	.	.	2/24	PASS	ENST00000265748	Transcript	.	.	ENSG00000011426	14082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.2)	.	ANLN_HUMAN	ANLN	HGNC	C9JJT6_HUMAN	.	UPI00001A95DE	SNV	ANLN,missense_variant,p.Gln50Leu,ENST00000396068,;ANLN,missense_variant,p.Gln28Leu,ENST00000424865,;ANLN,missense_variant,p.Gln28Leu,ENST00000418118,;ANLN,missense_variant,p.Gln50Leu,ENST00000265748,;	370	176	130	SUCCESS
AOAH	313	.	GRCh37	7	36763825	36763825	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	21	34	0	ENST00000258749.5:c.-72A>C		p.*24*	ENST00000258749	NM_001637.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5448.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTGCAGA	NONE	.	.	.	.	.	ENSP00000258749	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000258749	Transcript	.	.	ENSG00000136250	548	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AOAH_HUMAN	AOAH	HGNC	.	.	UPI0000001291	SNV	AOAH,5_prime_UTR_variant,,ENST00000535891,;AOAH,5_prime_UTR_variant,,ENST00000435386,;AOAH,5_prime_UTR_variant,,ENST00000431169,;AOAH,5_prime_UTR_variant,,ENST00000258749,;AOAH,5_prime_UTR_variant,,ENST00000414637,;	329	34	37	SUCCESS
AMPH	273	.	GRCh37	7	38500915	38500915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	34	69	0	ENST00000356264.2:c.985G>T	p.Val329Phe	p.V329F	ENST00000356264	NM_001635.3	329	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS5456.1	985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAACAAAGT	NONE	.	.	hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23	.	.	ENSP00000348602	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,missense_variant,p.Val329Phe,ENST00000356264,;AMPH,missense_variant,p.Val329Phe,ENST00000428293,;AMPH,missense_variant,p.Val80Phe,ENST00000441628,;AMPH,missense_variant,p.Val329Phe,ENST00000325590,;	1201	69	70	SUCCESS
MYO1G	64005	.	GRCh37	7	45002572	45002572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	8	0	ENST00000258787.7:c.2897A>T	p.Gln966Leu	p.Q966L	ENST00000258787	NM_033054.2	966	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34629.1	2897	MUTECT|MUSE	.	ACCCCTGGCAG	NONE	.	.	Pfam_domain:PF06017	.	.	ENSP00000258787	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000258787	Transcript	.	.	ENSG00000136286	13880	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.185)	.	deleterious(0.04)	.	MYO1G_HUMAN	MYO1G	HGNC	.	.	UPI00001D747C	SNV	MYO1G,missense_variant,p.Gln966Leu,ENST00000258787,;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;	3034	8	11	SUCCESS
ADCY1	107	.	GRCh37	7	45632453	45632453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	56	105	0	ENST00000297323.7:c.735G>T	p.Gln245His	p.Q245H	ENST00000297323	NM_021116.2	245	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS34631.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGCCCG	NONE	.	.	hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920	.	.	ENSP00000297323	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.764)	.	deleterious(0.05)	.	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,missense_variant,p.Gln20His,ENST00000432715,;ADCY1,missense_variant,p.Gln245His,ENST00000297323,;	757	105	114	SUCCESS
ADCY1	107	.	GRCh37	7	45717819	45717819	+	synonymous_variant	Silent	SNP	C	C	T	rs1158321063	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	45	97	0	ENST00000297323.7:c.1855C>T	p.Leu619=	p.L619=	ENST00000297323	NM_021116.2	619	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34631.1	1855	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCTGGCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920	.	.	ENSP00000297323	.	10/20	.	.	.	.	.	.	.	.	COSM3639101	10/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,synonymous_variant,p.%3D,ENST00000297323,;	1877	97	105	SUCCESS
TNS3	64759	.	GRCh37	7	47408179	47408179	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	50	0	ENST00000311160.9:c.2064A>T	p.Pro688=	p.P688=	ENST00000311160	NM_022748.11	688	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS5506.2	2064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCTGGGGA	NONE	.	.	hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	.	ENSP00000381854	.	17/31	.	.	.	.	.	.	.	.	.	17/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,synonymous_variant,p.%3D,ENST00000398879,;TNS3,synonymous_variant,p.%3D,ENST00000311160,;TNS3,synonymous_variant,p.%3D,ENST00000457718,;TNS3,synonymous_variant,p.%3D,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000450444,;TNS3,downstream_gene_variant,,ENST00000469470,;	2431	50	34	SUCCESS
PKD1L1	168507	.	GRCh37	7	47870899	47870899	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	47	121	0	ENST00000289672.2:c.6389A>C	p.Gln2130Pro	p.Q2130P	ENST00000289672	NM_138295.3	2130	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34633.1	6389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCTGAAGG	NONE	.	.	hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	.	.	ENSP00000289672	.	42/57	.	.	.	.	.	.	.	.	.	42/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.34)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Gln2130Pro,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;PKD1L1,upstream_gene_variant,,ENST00000483616,;	6440	121	108	SUCCESS
FOXK1	221937	.	GRCh37	7	4794986	4794986	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760221038	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	91	0	ENST00000328914.4:c.1022A>G	p.Tyr341Cys	p.Y341C	ENST00000328914	NM_001037165.1	341	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34591.1	1022	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTACTACC	NONE	.	.	PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	.	.	ENSP00000328720	.	4/9	.	.	.	.	.	.	.	.	rs760221038	4/9	PASS	ENST00000328914	Transcript	.	.	ENSG00000164916	23480	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	FOXK1_HUMAN	FOXK1	HGNC	B3KV39_HUMAN	.	UPI00004158EB	SNV	FOXK1,missense_variant,p.Tyr178Cys,ENST00000446823,;FOXK1,missense_variant,p.Tyr341Cys,ENST00000328914,;FOXK1,downstream_gene_variant,,ENST00000460979,;FOXK1,upstream_gene_variant,,ENST00000496023,;	1022	91	92	SUCCESS
PKD1L1	168507	.	GRCh37	7	47970705	47970705	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	50	0	ENST00000289672.2:c.733A>T	p.Arg245Ter	p.R245*	ENST00000289672	NM_138295.3	245	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS34633.1	733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTGGGAG	NONE	.	.	.	.	.	ENSP00000289672	.	6/57	.	.	.	.	.	.	.	.	.	6/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,stop_gained,p.Arg245Ter,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	784	50	45	SUCCESS
HUS1	3364	.	GRCh37	7	48008897	48008897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	39	0	ENST00000258774.5:c.559G>T	p.Asp187Tyr	p.D187Y	ENST00000258774	NM_004507.3	187	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34635.1	559	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCTAGGT	NONE	.	.	hmmpanther:PTHR12900:SF2,hmmpanther:PTHR12900,Gene3D:3.70.10.10,Pfam_domain:PF04005,PIRSF_domain:PIRSF011312	.	.	ENSP00000258774	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000258774	Transcript	.	.	ENSG00000136273	5309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.382)	.	deleterious(0)	.	HUS1_HUMAN	HUS1	HGNC	C9JCK8_HUMAN,C9JA95_HUMAN,B4DFI9_HUMAN,A4D2F2_HUMAN	.	UPI000006FE43	SNV	HUS1,missense_variant,p.Asp166Tyr,ENST00000432325,;HUS1,missense_variant,p.Asp187Tyr,ENST00000258774,;HUS1,missense_variant,p.Asp166Tyr,ENST00000432627,;HUS1,missense_variant,p.Asp187Tyr,ENST00000436444,;HUS1,missense_variant,p.Asp166Tyr,ENST00000458191,;HUS1,3_prime_UTR_variant,,ENST00000442024,;	583	39	37	SUCCESS
ABCA13	154664	.	GRCh37	7	48314790	48314790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	78	0	ENST00000435803.1:c.5527G>T	p.Val1843Phe	p.V1843F	ENST00000435803	NM_152701.3	1843	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS47584.1	5527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATGTCCAT	NONE	.	.	hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	17/62	.	.	.	.	.	.	.	.	.	17/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Val1843Phe,ENST00000435803,;ABCA13,downstream_gene_variant,,ENST00000417403,;	5551	78	61	SUCCESS
ABCA13	154664	.	GRCh37	7	48412076	48412076	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	18	36	0	ENST00000435803.1:c.11115T>C	p.Phe3705=	p.F3705=	ENST00000435803	NM_152701.3	3705	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS47584.1	11115	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTTGTTAA	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	33/62	.	.	.	.	.	.	.	.	.	33/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,synonymous_variant,p.%3D,ENST00000435803,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;	11139	36	41	SUCCESS
ABCA13	154664	.	GRCh37	7	48431709	48431709	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	123	0	ENST00000435803.1:c.11846A>T	p.Lys3949Met	p.K3949M	ENST00000435803	NM_152701.3	3949	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS47584.1	11846	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAAGAAGG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	.	.	ENSP00000411096	.	38/62	.	.	.	.	.	.	.	.	COSM3881556,COSM3881555	38/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.907)	.	.	1,1	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Lys3949Met,ENST00000435803,;ABCA13,missense_variant,p.Lys215Met,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	11870	123	118	SUCCESS
RADIL	55698	.	GRCh37	7	4843189	4843189	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	35	0	ENST00000399583.3:c.2487A>C	p.Pro829=	p.P829=	ENST00000399583	NM_018059.4	829	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS43544.1	2487	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTGGCTG	NONE	.	.	hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3	.	.	ENSP00000382492	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000399583	Transcript	.	.	ENSG00000157927	22226	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RADIL_HUMAN	RADIL	HGNC	F5H6X3_HUMAN,C9J7G0_HUMAN	.	UPI0000E0A787	SNV	RADIL,synonymous_variant,p.%3D,ENST00000399583,;RADIL,synonymous_variant,p.%3D,ENST00000538469,;RADIL,3_prime_UTR_variant,,ENST00000536091,;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,;	2675	35	41	SUCCESS
ABCA13	154664	.	GRCh37	7	48528889	48528889	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	58	189	0	ENST00000435803.1:c.13239C>A	p.Asn4413Lys	p.N4413K	ENST00000435803	NM_152701.3	4413	aaC/aaA	0	.	.	.	.	.	A	N/K	protein_coding	YES	CCDS47584.1	13239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAACAACCT	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	48/62	.	.	.	.	.	.	.	.	.	48/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Asn4413Lys,ENST00000435803,;ABCA13,missense_variant,p.Asn143Lys,ENST00000544596,;ABCA13,missense_variant,p.Asn186Lys,ENST00000411975,;ABCA13,missense_variant,p.Asn679Lys,ENST00000453246,;	13263	189	155	SUCCESS
ABCA13	154664	.	GRCh37	7	48559635	48559635	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	59	0	ENST00000435803.1:c.13798-2A>T		p.X4600_splice	ENST00000435803	NM_152701.3	4600		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47584.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAGAATT	NONE	.	.	.	.	.	ENSP00000411096	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	HIGH	52/61	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,splice_acceptor_variant,,ENST00000435803,;ABCA13,splice_acceptor_variant,,ENST00000435451,;ABCA13,splice_acceptor_variant,,ENST00000544596,;ABCA13,splice_acceptor_variant,,ENST00000411975,;ABCA13,splice_acceptor_variant,,ENST00000453246,;	.	59	34	SUCCESS
IKZF1	10320	.	GRCh37	7	50450343	50450343	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	16	0	ENST00000331340.3:c.527A>T	p.His176Leu	p.H176L	ENST00000331340	NM_006060.4	176	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS59055.1	527	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCACCTCT	CODON|p.?|c.1-?_850+?del|74,CODON|p.?|c.161-?_1560+?del|29,CODON|p.?|c.161-?_850+?del|163	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF23,PROSITE_profiles:PS50157	.	.	ENSP00000413025	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000439701	Transcript	.	.	ENSG00000185811	13176	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	.	deleterious(0.04)	.	IKZF1_HUMAN	IKZF1	HGNC	.	.	UPI000002ABBE	SNV	IKZF1,missense_variant,p.His176Leu,ENST00000331340,;IKZF1,missense_variant,p.His176Leu,ENST00000440768,;IKZF1,missense_variant,p.His89Leu,ENST00000343574,;IKZF1,missense_variant,p.His176Leu,ENST00000357364,;IKZF1,missense_variant,p.His89Leu,ENST00000438033,;IKZF1,missense_variant,p.His176Leu,ENST00000359197,;IKZF1,missense_variant,p.His176Leu,ENST00000439701,;IKZF1,intron_variant,,ENST00000349824,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	726	16	20	SUCCESS
COBL	23242	.	GRCh37	7	51095619	51095619	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	61	161	0	ENST00000265136.7:c.3174A>C	p.Thr1058=	p.T1058=	ENST00000265136	NM_015198.3	1058	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS34637.1	3174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTGTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	.	.	ENSP00000265136	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000265136	Transcript	.	.	ENSG00000106078	22199	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COBL_HUMAN	COBL	HGNC	C9J9X1_HUMAN	.	UPI00001A9480	SNV	COBL,synonymous_variant,p.%3D,ENST00000431948,;COBL,synonymous_variant,p.%3D,ENST00000265136,;COBL,synonymous_variant,p.%3D,ENST00000395542,;COBL,synonymous_variant,p.%3D,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;RP4-724E13.2,downstream_gene_variant,,ENST00000582616,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	3340	161	127	SUCCESS
SLC29A4	222962	.	GRCh37	7	5336593	5336593	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	15	0	ENST00000297195.4:c.646A>G	p.Ser216Gly	p.S216G	ENST00000297195	NM_001040661.1	216	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS5340.1	646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGAGCCGC	NONE	.	.	hmmpanther:PTHR10332:SF4,hmmpanther:PTHR10332,Pfam_domain:PF01733,Superfamily_domains:SSF103473,Prints_domain:PR01130	.	.	ENSP00000380081	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000396872	Transcript	.	.	ENSG00000164638	23097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.752)	.	tolerated(0.07)	.	S29A4_HUMAN	SLC29A4	HGNC	C9IYM7_HUMAN	.	UPI0000051F6F	SNV	SLC29A4,missense_variant,p.Ser216Gly,ENST00000297195,;SLC29A4,missense_variant,p.Ser216Gly,ENST00000396872,;SLC29A4,missense_variant,p.Ser202Gly,ENST00000406453,;SLC29A4,upstream_gene_variant,,ENST00000439491,;	807	15	19	SUCCESS
TNRC18	84629	.	GRCh37	7	5353216	5353216	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs752320737	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	43	0	ENST00000430969.1:c.7306A>T	p.Lys2436Ter	p.K2436*	ENST00000430969	NM_001080495.2	2436	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS47534.1	7306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTTGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	27/30	.	.	.	.	.	.	.	.	rs752320737	27/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,stop_gained,p.Lys250Ter,ENST00000328270,;TNRC18,stop_gained,p.Lys2436Ter,ENST00000430969,;TNRC18,stop_gained,p.Lys2436Ter,ENST00000399537,;	7655	43	45	SUCCESS
TNRC18	84629	.	GRCh37	7	5410083	5410083	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	47	0	ENST00000430969.1:c.4142A>C	p.Gln1381Pro	p.Q1381P	ENST00000430969	NM_001080495.2	1381	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS47534.1	4142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCTGCTCC	NONE	.	.	hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,missense_variant,p.Gln1381Pro,ENST00000430969,;TNRC18,missense_variant,p.Gln1381Pro,ENST00000399537,;	4491	47	43	SUCCESS
RNF216	54476	.	GRCh37	7	5770366	5770366	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	87	187	1	ENST00000425013.2:c.1033G>C	p.Ala345Pro	p.A345P	ENST00000425013	NM_207111.3	345	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS34594.1	1204	RADIA|SOMATICSNIPER|VARSCANS	.	GCTGGCCAGCA	NONE	.	.	hmmpanther:PTHR22770:SF13,hmmpanther:PTHR22770	.	.	ENSP00000374552	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000389902	Transcript	.	.	ENSG00000011275	21698	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.019)	.	tolerated(0.25)	.	RN216_HUMAN	RNF216	HGNC	C9JIV3_HUMAN	.	UPI000013F5B3	SNV	RNF216,missense_variant,p.Ala402Pro,ENST00000389902,;RNF216,missense_variant,p.Ala345Pro,ENST00000425013,;RNF216,3_prime_UTR_variant,,ENST00000389900,;RNF216,non_coding_transcript_exon_variant,,ENST00000479541,;	1472	188	170	SUCCESS
USP42	84132	.	GRCh37	7	6183734	6183734	+	synonymous_variant	Silent	SNP	A	A	T	rs759845063	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	65	0	ENST00000306177.5:c.897A>T	p.Pro299=	p.P299=	ENST00000306177	NM_032172.2	299	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS47535.1	897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCAGCTTC	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,Gene3D:1nbfA02,hmmpanther:PTHR24006:SF405,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	.	.	ENSP00000301962	.	9/18	.	.	.	.	.	.	.	.	rs759845063	9/18	PASS	ENST00000306177	Transcript	.	.	ENSG00000106346	20068	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP42_HUMAN	USP42	HGNC	E5RJP3_HUMAN,C9JPC9_HUMAN	.	UPI0000416754	SNV	USP42,synonymous_variant,p.%3D,ENST00000306177,;USP42,synonymous_variant,p.%3D,ENST00000426246,;USP42,synonymous_variant,p.%3D,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,3_prime_UTR_variant,,ENST00000404008,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	1055	65	60	SUCCESS
RP11-3N2.13	0	.	GRCh37	7	63538686	63538686	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	64	126	0	ENST00000456806.1:n.1241A>T		p.*414*	ENST00000456806		420		0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS55113.1	1259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGAAGTGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000447987	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000550760	Transcript	.	.	ENSG00000257482	22785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.223)	.	deleterious(0.01)	.	ZN727_HUMAN	ZNF727	HGNC	.	.	UPI0001A23134	SNV	ZNF727,missense_variant,p.Glu420Val,ENST00000550760,;RP11-3N2.13,downstream_gene_variant,,ENST00000445978,;RP11-3N2.13,non_coding_transcript_exon_variant,,ENST00000456806,;RP11-3N2.13,upstream_gene_variant,,ENST00000430271,;	1438	126	125	SUCCESS
ZNF736	728927	.	GRCh37	7	63808697	63808697	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	36	0	ENST00000355095.4:c.456A>G	p.Arg152=	p.R152=	ENST00000355095	NM_001170905.1	152	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS55114.1	456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGAGGTTT	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79,Gene3D:3.30.160.60	.	.	ENSP00000400852	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000423484	Transcript	.	.	ENSG00000234444	32467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN736_HUMAN	ZNF736	HGNC	.	.	UPI0001662442	SNV	ZNF736,synonymous_variant,p.%3D,ENST00000423484,;ZNF736,synonymous_variant,p.%3D,ENST00000355095,;	578	36	36	SUCCESS
GRID2IP	392862	.	GRCh37	7	6560210	6560210	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	27	63	0	ENST00000457091.2:c.1267A>T	p.Arg423Trp	p.R423W	ENST00000457091	NM_001145118.1	423	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS47537.1	1267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGTGCT	NONE	.	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15	.	.	ENSP00000397351	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000457091	Transcript	.	.	ENSG00000215045	18464	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious(0)	.	GRD2I_HUMAN	GRID2IP	HGNC	.	.	UPI0001722D0B	SNV	GRID2IP,missense_variant,p.Arg423Trp,ENST00000457091,;GRID2IP,missense_variant,p.Arg233Trp,ENST00000452113,;GRID2IP,missense_variant,p.Arg240Trp,ENST00000435185,;	1267	63	58	SUCCESS
WBSCR17	0	.	GRCh37	7	70885934	70885934	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781199608	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	50	89	0	ENST00000333538.5:c.805C>T	p.Arg269Cys	p.R269C	ENST00000333538	NM_022479.2	269	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS5540.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCGTGTG	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000329654	.	5/11	.	.	.	.	.	.	.	.	rs781199608,COSM3698525,COSM1550284	5/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.998)	.	deleterious(0.03)	0,1,1	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Arg269Cys,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	1439	89	90	SUCCESS
WBSCR17	0	.	GRCh37	7	71036347	71036347	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	91	0	ENST00000333538.5:c.1040T>G	p.Met347Arg	p.M347R	ENST00000333538	NM_022479.2	347	aTg/aGg	0	.	.	.	.	.	G	M/R	protein_coding	YES	CCDS5540.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATGGATG	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000329654	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0.01)	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,missense_variant,p.Met347Arg,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	1674	91	76	SUCCESS
GTF2IRD2P1	401375	.	GRCh37	7	72658294	72658294	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	49	197	0	ENST00000425256.1:n.1618T>A		p.*540*	ENST00000425256				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCAGTGGA	NONE	.	.	.	.	.	.	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000425256	Transcript	.	.	ENSG00000214544	33127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GTF2IRD2P1	HGNC	.	.	.	SNV	GTF2IRD2P1,non_coding_transcript_exon_variant,,ENST00000425256,;GTF2IRD2P1,downstream_gene_variant,,ENST00000449689,;	1618	197	180	SUCCESS
WBSCR27	0	.	GRCh37	7	73254767	73254767	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	103	0	ENST00000297873.4:c.365A>T	p.Gln122Leu	p.Q122L	ENST00000297873	NM_152559.2	122	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS5561.1	365	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGCCC	NONE	.	.	Superfamily_domains:SSF53335,Pfam_domain:PF12847,Gene3D:3.40.50.150,hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF693	.	.	ENSP00000297873	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000297873	Transcript	.	.	ENSG00000165171	19068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.05)	.	WBS27_HUMAN	WBSCR27	HGNC	.	.	UPI000013E466	SNV	WBSCR27,missense_variant,p.Gln122Leu,ENST00000297873,;WBSCR27,intron_variant,,ENST00000458679,;WBSCR27,intron_variant,,ENST00000493174,;	415	103	75	SUCCESS
HIP1	3092	.	GRCh37	7	75192502	75192502	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	67	0	ENST00000336926.6:c.869A>T	p.Gln290Leu	p.Q290L	ENST00000336926	NM_005338.6	290	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34669.1	869	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTGGGGG	NONE	.	.	hmmpanther:PTHR10407:SF14,hmmpanther:PTHR10407,Pfam_domain:PF07651	.	.	ENSP00000336747	.	10/31	.	.	.	.	.	.	.	.	.	10/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.27)	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,missense_variant,p.Gln290Leu,ENST00000434438,;HIP1,missense_variant,p.Gln290Leu,ENST00000336926,;HIP1,non_coding_transcript_exon_variant,,ENST00000404944,;	896	67	66	SUCCESS
COL28A1	340267	.	GRCh37	7	7530242	7530242	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	36	53	0	ENST00000399429.3:c.1062A>T	p.Pro354=	p.P354=	ENST00000399429	NM_001037763.2	354	ccA/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS43553.1	1062	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCTGGAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375	.	.	ENSP00000382356	.	12/35	.	.	.	.	.	.	.	.	.	12/35	PASS	ENST00000399429	Transcript	.	.	ENSG00000215018	22442	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COSA1_HUMAN	COL28A1	HGNC	H7C3P2_HUMAN,H7BZU0_HUMAN	.	UPI000155D64E	SNV	COL28A1,synonymous_variant,p.%3D,ENST00000399429,;COL28A1,3_prime_UTR_variant,,ENST00000444268,;	1203	53	80	SUCCESS
MIOS	54468	.	GRCh37	7	7612424	7612424	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	83	0	ENST00000340080.4:c.318A>G	p.Lys106=	p.K106=	ENST00000340080	NM_019005.3	106	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS43554.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAAGAGTT	NONE	.	.	hmmpanther:PTHR16453,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000339881	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000340080	Transcript	.	.	ENSG00000164654	21905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIO_HUMAN	MIOS	HGNC	C9JUE6_HUMAN,C9JTV2_HUMAN,C9JAQ1_HUMAN	.	UPI000020EB0B	SNV	MIOS,synonymous_variant,p.%3D,ENST00000456533,;MIOS,synonymous_variant,p.%3D,ENST00000405785,;MIOS,synonymous_variant,p.%3D,ENST00000433635,;MIOS,synonymous_variant,p.%3D,ENST00000340080,;MIOS,downstream_gene_variant,,ENST00000433056,;MIOS,downstream_gene_variant,,ENST00000445169,;	739	83	83	SUCCESS
PHTF2	57157	.	GRCh37	7	77567113	77567113	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	107	264	0	ENST00000248550.7:c.1425A>T	p.Ala475=	p.A475=	ENST00000248550		475	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS47621.1	1323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCAGACAT	NONE	.	.	hmmpanther:PTHR12680:SF2,hmmpanther:PTHR12680	.	.	ENSP00000400958	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000416283	Transcript	.	.	ENSG00000006576	13411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHTF2_HUMAN	PHTF2	HGNC	.	.	UPI0000E674D3	SNV	PHTF2,synonymous_variant,p.%3D,ENST00000416283,;PHTF2,synonymous_variant,p.%3D,ENST00000422959,;PHTF2,synonymous_variant,p.%3D,ENST00000248550,;PHTF2,synonymous_variant,p.%3D,ENST00000307305,;PHTF2,synonymous_variant,p.%3D,ENST00000275575,;PHTF2,synonymous_variant,p.%3D,ENST00000424760,;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,upstream_gene_variant,,ENST00000470215,;PHTF2,intron_variant,,ENST00000479515,;	1449	264	250	SUCCESS
SEMA3C	10512	.	GRCh37	7	80457899	80457899	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	122	0	ENST00000265361.3:c.264+2T>C		p.X88_splice	ENST00000265361	NM_006379.3	88		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5596.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTACACTC	NONE	.	.	.	.	.	ENSP00000265361	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265361	Transcript	.	.	ENSG00000075223	10725	.	.	HIGH	3/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM3C_HUMAN	SEMA3C	HGNC	Q75MX0_HUMAN,Q75L25_HUMAN	.	UPI000011C137	SNV	SEMA3C,splice_donor_variant,,ENST00000265361,;SEMA3C,splice_donor_variant,,ENST00000544525,;SEMA3C,splice_donor_variant,,ENST00000419255,;SEMA3C,intron_variant,,ENST00000536800,;SEMA3C,splice_donor_variant,,ENST00000427167,;SEMA3C,splice_donor_variant,,ENST00000411788,;SEMA3C,intron_variant,,ENST00000458729,;	.	122	117	SUCCESS
ICA1	3382	.	GRCh37	7	8167517	8167517	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs368311237	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	65	0	ENST00000396675.3:c.1316A>T	p.Gln439Leu	p.Q439L	ENST00000396675	NM_022307.2	439	cAg/cTg	0	C:0	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34602.1	1316	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTGTAAG	NONE	.	.	hmmpanther:PTHR10164:SF3,hmmpanther:PTHR10164,Pfam_domain:PF04629	.	C:0.0001	ENSP00000385570	.	13/14	.	.	.	.	.	.	.	.	rs368311237	13/14	PASS	ENST00000402384	Transcript	.	.	ENSG00000003147	5343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.13)	.	ICA69_HUMAN	ICA1	HGNC	Q9UDQ6_HUMAN,F8WET5_HUMAN,C9J3Y4_HUMAN	.	UPI000012D139	SNV	ICA1,missense_variant,p.Gln468Leu,ENST00000422063,;ICA1,missense_variant,p.Gln439Leu,ENST00000396675,;ICA1,missense_variant,p.Gln438Leu,ENST00000265577,;ICA1,missense_variant,p.Gln439Leu,ENST00000402384,;ICA1,missense_variant,p.Gln439Leu,ENST00000406470,;ICA1,missense_variant,p.Gln427Leu,ENST00000401396,;ICA1,non_coding_transcript_exon_variant,,ENST00000486677,;ICA1,3_prime_UTR_variant,,ENST00000339809,;ICA1,3_prime_UTR_variant,,ENST00000455539,;	1583	65	56	SUCCESS
PCLO	27445	.	GRCh37	7	82764680	82764680	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	98	0	ENST00000333891.9:c.2186T>A	p.Leu729Ter	p.L729*	ENST00000333891	NM_033026.5	729	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS47630.1	2186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGACAAAGAA	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	COSM747844,COSM747845,COSM747846	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	.	.	.	1,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,stop_gained,p.Leu729Ter,ENST00000333891,;PCLO,stop_gained,p.Leu729Ter,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2524	98	83	SUCCESS
PCLO	27445	.	GRCh37	7	82764790	82764790	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	44	104	0	ENST00000333891.9:c.2076G>T	p.Gln692His	p.Q692H	ENST00000333891	NM_033026.5	692	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47630.1	2076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCCTGTTT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	3/25	.	.	.	.	.	.	.	.	COSM3703295,COSM3703296,COSM3703297	3/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	unknown(0)	.	.	1,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Gln692His,ENST00000333891,;PCLO,missense_variant,p.Gln692His,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000461143,;	2414	104	91	SUCCESS
NXPH1	30010	.	GRCh37	7	8475236	8475236	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	26	0	ENST00000405863.1:c.-108T>G		p.X36_splice	ENST00000405863	NM_152745.2	36		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47540.1	.	MUTECT|MUSE	.	TAGGCTGCTGA	NONE	.	.	.	.	.	ENSP00000384551	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405863	Transcript	.	.	ENSG00000122584	20693	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NXPH1_HUMAN	NXPH1	HGNC	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN	.	UPI000000DC02	SNV	NXPH1,splice_region_variant,,ENST00000602349,;NXPH1,splice_region_variant,,ENST00000405863,;NXPH1,splice_region_variant,,ENST00000438764,;NXPH1,5_prime_UTR_variant,,ENST00000429542,;	804	26	32	SUCCESS
KIAA1324L	0	.	GRCh37	7	86571334	86571334	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	101	0	ENST00000450689.2:c.741T>C		p.X247_splice	ENST00000450689	NM_001142749.2	247	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS47632.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACAGAATG	NONE	.	.	hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	.	.	ENSP00000413445	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,synonymous_variant,p.%3D,ENST00000444627,;KIAA1324L,synonymous_variant,p.%3D,ENST00000423294,;KIAA1324L,synonymous_variant,p.%3D,ENST00000450689,;KIAA1324L,synonymous_variant,p.%3D,ENST00000416314,;KIAA1324L,downstream_gene_variant,,ENST00000425689,;KIAA1324L,downstream_gene_variant,,ENST00000398276,;KIAA1324L,upstream_gene_variant,,ENST00000297222,;KIAA1324L,synonymous_variant,p.%3D,ENST00000394714,;	927	101	78	SUCCESS
ZNF804B	219578	.	GRCh37	7	88965401	88965401	+	synonymous_variant	Silent	SNP	A	A	T	rs760377285	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	55	132	1	ENST00000333190.4:c.3105A>T	p.Thr1035=	p.T1035=	ENST00000333190	NM_181646.2	1035	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5613.1	3105	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACAGAGTC	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	rs760377285	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,synonymous_variant,p.%3D,ENST00000333190,;	3714	133	109	SUCCESS
C7orf63	0	.	GRCh37	7	89917620	89917620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	112	0	ENST00000389297.4:c.1729G>T	p.Gly577Cys	p.G577C	ENST00000389297	NM_001039706.2	577	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS43613.2	1729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGGCTTA	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR14716,hmmpanther:PTHR14716:SF0	.	.	ENSP00000373948	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000389297	Transcript	.	.	ENSG00000105792	26107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	CG063_HUMAN	C7orf63	HGNC	F8WBX7_HUMAN	.	UPI000066DA29	SNV	C7orf63,missense_variant,p.Gly160Cys,ENST00000449577,;C7orf63,missense_variant,p.Gly460Cys,ENST00000457170,;C7orf63,missense_variant,p.Gly577Cys,ENST00000389297,;C7orf63,missense_variant,p.Gly577Cys,ENST00000316089,;C7orf63,missense_variant,p.Gly559Cys,ENST00000497910,;C7orf63,3_prime_UTR_variant,,ENST00000427396,;C7orf63,3_prime_UTR_variant,,ENST00000451029,;C7orf63,non_coding_transcript_exon_variant,,ENST00000475031,;C7orf63,downstream_gene_variant,,ENST00000491886,;	1980	112	89	SUCCESS
C7orf63	0	.	GRCh37	7	89936396	89936396	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	51	127	0	ENST00000389297.4:c.2447A>G	p.Gln816Arg	p.Q816R	ENST00000389297	NM_001039706.2	816	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS43613.2	2447	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAACAAAAAG	NONE	.	.	hmmpanther:PTHR14716,hmmpanther:PTHR14716:SF0	.	.	ENSP00000373948	.	20/23	.	.	.	.	.	.	.	.	.	20/23	PASS	ENST00000389297	Transcript	.	.	ENSG00000105792	26107	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated(0.11)	.	CG063_HUMAN	C7orf63	HGNC	F8WBX7_HUMAN	.	UPI000066DA29	SNV	C7orf63,missense_variant,p.Gln353Arg,ENST00000449577,;C7orf63,missense_variant,p.Gln3Arg,ENST00000445156,;C7orf63,missense_variant,p.Gln798Arg,ENST00000497910,;C7orf63,missense_variant,p.Gln816Arg,ENST00000389297,;C7orf63,missense_variant,p.Gln770Arg,ENST00000316089,;C7orf63,intron_variant,,ENST00000412839,;C7orf63,non_coding_transcript_exon_variant,,ENST00000475031,;C7orf63,downstream_gene_variant,,ENST00000427396,;C7orf63,downstream_gene_variant,,ENST00000451029,;	2698	127	128	SUCCESS
AKAP9	10142	.	GRCh37	7	91724335	91724335	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	82	0	ENST00000356239.3:c.9579-2A>T		p.X3193_splice	ENST00000356239	NM_147185.2	3193		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5622.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTAGGTTG	NONE	.	.	.	.	.	ENSP00000348573	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356239	Transcript	.	.	ENSG00000127914	379	.	.	HIGH	39/49	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKAP9_HUMAN	AKAP9	HGNC	Q8IW64_HUMAN	.	UPI000002A38D	SNV	AKAP9,splice_acceptor_variant,,ENST00000356239,;AKAP9,splice_acceptor_variant,,ENST00000359028,;AKAP9,splice_acceptor_variant,,ENST00000394534,;AKAP9,splice_acceptor_variant,,ENST00000358100,;AKAP9,downstream_gene_variant,,ENST00000435423,;AKAP9,splice_acceptor_variant,,ENST00000487258,;AKAP9,upstream_gene_variant,,ENST00000463118,;AKAP9,upstream_gene_variant,,ENST00000487692,;	.	82	57	SUCCESS
LRRD1	401387	.	GRCh37	7	91792827	91792827	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	74	188	1	ENST00000430130.2:c.1690T>G	p.Cys564Gly	p.C564G	ENST00000430130	NM_001161528.1	564	Tgc/Ggc	0	.	.	.	.	.	C	C/G	protein_coding	YES	CCDS55124.1	1690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCATAAAA	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF452,hmmpanther:PTHR23155,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000405987	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000458448	Transcript	.	.	ENSG00000240720	34300	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated(0.68)	.	LRRD1_HUMAN	LRRD1	HGNC	C9K0I1_HUMAN	.	UPI0001662314	SNV	LRRD1,missense_variant,p.Cys564Gly,ENST00000458448,;LRRD1,missense_variant,p.Cys564Gly,ENST00000430130,;LRRD1,5_prime_UTR_variant,,ENST00000454089,;LRRD1,intron_variant,,ENST00000343318,;LRRD1,downstream_gene_variant,,ENST00000437357,;CTB-161K23.1,intron_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;	1891	189	168	SUCCESS
LRRD1	401387	.	GRCh37	7	91794336	91794336	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	85	0	ENST00000430130.2:c.181A>T	p.Arg61Ter	p.R61*	ENST00000430130	NM_001161528.1	61	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS55124.1	181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCTAGGAT	NONE	.	.	.	.	.	ENSP00000405987	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000458448	Transcript	.	.	ENSG00000240720	34300	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRD1_HUMAN	LRRD1	HGNC	C9K0I1_HUMAN	.	UPI0001662314	SNV	LRRD1,stop_gained,p.Arg61Ter,ENST00000458448,;LRRD1,stop_gained,p.Arg61Ter,ENST00000430130,;LRRD1,5_prime_UTR_variant,,ENST00000454089,;LRRD1,intron_variant,,ENST00000343318,;LRRD1,downstream_gene_variant,,ENST00000437357,;CTB-161K23.1,non_coding_transcript_exon_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;	382	85	71	SUCCESS
RBM48	84060	.	GRCh37	7	92158171	92158171	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	115	0	ENST00000265732.5:c.44A>T	p.His15Leu	p.H15L	ENST00000265732	NM_032120.2	15	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS43615.1	44	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCACGTCC	NONE	.	.	hmmpanther:PTHR20957	.	.	ENSP00000265732	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000265732	Transcript	.	.	ENSG00000127993	21785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	RBM48_HUMAN	RBM48	HGNC	.	.	UPI000020F54D	SNV	RBM48,missense_variant,p.His15Leu,ENST00000481551,;RBM48,missense_variant,p.His15Leu,ENST00000265732,;RBM48,5_prime_UTR_variant,,ENST00000496410,;PEX1,upstream_gene_variant,,ENST00000248633,;PEX1,upstream_gene_variant,,ENST00000438045,;PEX1,upstream_gene_variant,,ENST00000428214,;PEX1,upstream_gene_variant,,ENST00000484913,;	85	115	97	SUCCESS
SAMD9L	219285	.	GRCh37	7	92763730	92763730	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	62	0	ENST00000318238.4:c.1555A>G	p.Arg519Gly	p.R519G	ENST00000318238	NM_152703.2	519	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS34681.1	1555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTCTGCC	NONE	.	.	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	.	.	ENSP00000326247	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000318238	Transcript	.	.	ENSG00000177409	1349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	deleterious(0.01)	.	SAM9L_HUMAN	SAMD9L	HGNC	B4E3M1_HUMAN	.	UPI000020F567	SNV	SAMD9L,missense_variant,p.Arg519Gly,ENST00000318238,;SAMD9L,missense_variant,p.Arg519Gly,ENST00000437805,;SAMD9L,missense_variant,p.Arg519Gly,ENST00000411955,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;	2772	62	51	SUCCESS
PON3	5446	.	GRCh37	7	95023973	95023973	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	40	102	0	ENST00000265627.5:c.128A>T	p.His43Leu	p.H43L	ENST00000265627	NM_000940.2	43	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS5639.1	128	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGTGGCAG	NONE	.	.	hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF6,Gene3D:2.120.10.30,Superfamily_domains:SSF63829	.	.	ENSP00000265627	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000265627	Transcript	.	.	ENSG00000105852	9206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.06)	.	PON3_HUMAN	PON3	HGNC	.	.	UPI00000743F1	SNV	PON1,missense_variant,p.His43Leu,ENST00000542556,;PON3,missense_variant,p.His43Leu,ENST00000265627,;PON3,missense_variant,p.His43Leu,ENST00000451904,;PON3,missense_variant,p.His43Leu,ENST00000427422,;PON3,non_coding_transcript_exon_variant,,ENST00000475439,;PON3,missense_variant,p.His43Leu,ENST00000456855,;PON3,3_prime_UTR_variant,,ENST00000418617,;PON3,3_prime_UTR_variant,,ENST00000442770,;PON3,non_coding_transcript_exon_variant,,ENST00000482624,;	139	102	74	SUCCESS
ARPC1A	10552	.	GRCh37	7	98946489	98946489	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	75	140	0	ENST00000262942.5:c.407A>G	p.His136Arg	p.H136R	ENST00000262942	NM_001190996.1	136	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS5660.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCACATTA	NONE	.	.	hmmpanther:PTHR10709:SF11,hmmpanther:PTHR10709,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF038093,Superfamily_domains:SSF50978	.	.	ENSP00000262942	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000262942	Transcript	.	.	ENSG00000241685	703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.02)	.	ARC1A_HUMAN	ARPC1A	HGNC	Q75MY0_HUMAN	.	UPI0000167B41	SNV	ARPC1A,missense_variant,p.His89Arg,ENST00000432884,;ARPC1A,missense_variant,p.His136Arg,ENST00000262942,;ARPC1A,missense_variant,p.His136Arg,ENST00000432786,;ARPC1A,3_prime_UTR_variant,,ENST00000441989,;	531	140	147	SUCCESS
ZNF394	84124	.	GRCh37	7	99097607	99097607	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs750433022	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	24	0	ENST00000337673.6:c.110T>C	p.Leu37Ser	p.L37S	ENST00000337673	NM_032164.2	37	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS5666.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCAAAAGT	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3	.	.	ENSP00000337363	.	1/3	.	.	.	.	.	.	.	.	rs750433022	1/3	PASS	ENST00000337673	Transcript	.	.	ENSG00000160908	18832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.273)	.	deleterious(0)	.	ZN394_HUMAN	ZNF394	HGNC	.	.	UPI000006F498	SNV	ZNF394,missense_variant,p.Leu37Ser,ENST00000337673,;ZNF394,missense_variant,p.Leu37Ser,ENST00000426306,;ZNF789,intron_variant,,ENST00000493485,;ZKSCAN5,upstream_gene_variant,,ENST00000394170,;ZKSCAN5,upstream_gene_variant,,ENST00000451158,;ZKSCAN5,upstream_gene_variant,,ENST00000326775,;ZNF394,intron_variant,,ENST00000394177,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,upstream_gene_variant,,ENST00000462024,;ZNF394,non_coding_transcript_exon_variant,,ENST00000485576,;ZNF394,non_coding_transcript_exon_variant,,ENST00000481881,;ZNF394,upstream_gene_variant,,ENST00000464401,;	314	24	30	SUCCESS
RGS22	26166	.	GRCh37	8	101075783	101075783	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	36	93	1	ENST00000360863.6:c.1213A>T	p.Arg405Trp	p.R405W	ENST00000360863	NM_015668.3	405	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS43758.1	1213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTATGAG	NONE	.	.	hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845,Superfamily_domains:SSF48097	.	.	ENSP00000354109	.	8/28	.	.	.	.	.	.	.	.	.	8/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.711)	.	tolerated(0.07)	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,missense_variant,p.Arg224Trp,ENST00000523287,;RGS22,missense_variant,p.Arg393Trp,ENST00000523437,;RGS22,missense_variant,p.Arg405Trp,ENST00000360863,;RGS22,intron_variant,,ENST00000517828,;RGS22,downstream_gene_variant,,ENST00000520117,;RGS22,missense_variant,p.Arg405Trp,ENST00000519725,;RGS22,non_coding_transcript_exon_variant,,ENST00000520923,;	1408	94	76	SUCCESS
RNF19A	25897	.	GRCh37	8	101287279	101287279	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs756643748	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	50	124	0	ENST00000341084.2:c.785A>T	p.Gln262Leu	p.Q262L	ENST00000341084	NM_183419.3	262	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6286.1	785	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCTGGTTG	NONE	.	.	hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF111,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850	.	.	ENSP00000428968	.	4/11	.	.	.	.	.	.	.	.	rs756643748	4/11	PASS	ENST00000519449	Transcript	.	.	ENSG00000034677	13432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.613)	.	deleterious(0.01)	.	RN19A_HUMAN	RNF19A	HGNC	E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN	.	UPI000013D5E6	SNV	RNF19A,missense_variant,p.Gln262Leu,ENST00000519449,;RNF19A,missense_variant,p.Gln262Leu,ENST00000341084,;RNF19A,upstream_gene_variant,,ENST00000524233,;	1102	124	100	SUCCESS
GRHL2	79977	.	GRCh37	8	102611327	102611327	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	65	0	ENST00000251808.3:c.1046A>G	p.Glu349Gly	p.E349G	ENST00000251808	NM_024915.3	349	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS34931.1	1046	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAGATTG	NONE	.	.	Pfam_domain:PF04516,hmmpanther:PTHR11037:SF17,hmmpanther:PTHR11037	.	.	ENSP00000251808	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000251808	Transcript	1	.	ENSG00000083307	2799	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GRHL2_HUMAN	GRHL2	HGNC	.	.	UPI000013CD16	SNV	GRHL2,missense_variant,p.Glu349Gly,ENST00000251808,;GRHL2,missense_variant,p.Glu333Gly,ENST00000395927,;	1384	65	66	SUCCESS
RIMS2	9699	.	GRCh37	8	104924293	104924293	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	48	0	ENST00000406091.3:c.1705T>G	p.Trp569Gly	p.W569G	ENST00000406091	NM_001100117.2	569	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS55269.1	1705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCTGGCAA	NONE	.	.	hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000384892	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.01)	.	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,missense_variant,p.Trp377Gly,ENST00000408894,;RIMS2,missense_variant,p.Trp569Gly,ENST00000504942,;RIMS2,missense_variant,p.Trp377Gly,ENST00000507740,;RIMS2,missense_variant,p.Trp347Gly,ENST00000436393,;RIMS2,missense_variant,p.Trp569Gly,ENST00000406091,;RIMS2,missense_variant,p.Trp377Gly,ENST00000515551,;RIMS2,missense_variant,p.Trp424Gly,ENST00000262231,;RIMS2,upstream_gene_variant,,ENST00000501515,;RIMS2,upstream_gene_variant,,ENST00000507677,;RIMS2,upstream_gene_variant,,ENST00000511046,;RIMS2,upstream_gene_variant,,ENST00000512598,;	1705	48	53	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813460	106813460	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	130	0	ENST00000407775.2:c.1150C>A	p.Leu384Ile	p.L384I	ENST00000407775	NM_012082.3	384	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS47908.1	1150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCTCCAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.25)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Leu252Ile,ENST00000517361,;ZFPM2,missense_variant,p.Leu115Ile,ENST00000378472,;ZFPM2,missense_variant,p.Leu252Ile,ENST00000520492,;ZFPM2,missense_variant,p.Leu384Ile,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1400	130	97	SUCCESS
ZFPM2	23414	.	GRCh37	8	106813461	106813461	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	44	130	0	ENST00000407775.2:c.1151T>C	p.Leu384Pro	p.L384P	ENST00000407775	NM_012082.3	384	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS47908.1	1151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTCCATG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.705)	.	deleterious(0.02)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Leu252Pro,ENST00000517361,;ZFPM2,missense_variant,p.Leu115Pro,ENST00000378472,;ZFPM2,missense_variant,p.Leu252Pro,ENST00000520492,;ZFPM2,missense_variant,p.Leu384Pro,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	1401	130	97	SUCCESS
ZFPM2	23414	.	GRCh37	8	106814726	106814726	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	66	143	1	ENST00000407775.2:c.2416A>G	p.Asn806Asp	p.N806D	ENST00000407775	NM_012082.3	806	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS47908.1	2416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCAACAAG	NONE	.	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.1)	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,missense_variant,p.Asn674Asp,ENST00000517361,;ZFPM2,missense_variant,p.Asn537Asp,ENST00000378472,;ZFPM2,missense_variant,p.Asn674Asp,ENST00000520492,;ZFPM2,missense_variant,p.Asn806Asp,ENST00000407775,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;	2666	144	130	SUCCESS
OXR1	55074	.	GRCh37	8	107691475	107691475	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	59	166	0	ENST00000442977.2:c.261A>G	p.Gly87=	p.G87=	ENST00000442977	NM_001198532.1	87	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS56548.1	261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGAAGACG	BUFFER|p.R89Q|c.266G>A|3	.	.	hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354	.	.	ENSP00000405424	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,synonymous_variant,p.%3D,ENST00000497705,;OXR1,synonymous_variant,p.%3D,ENST00000442977,;OXR1,synonymous_variant,p.%3D,ENST00000312046,;OXR1,synonymous_variant,p.%3D,ENST00000517686,;OXR1,synonymous_variant,p.%3D,ENST00000445937,;OXR1,synonymous_variant,p.%3D,ENST00000531443,;OXR1,synonymous_variant,p.%3D,ENST00000517566,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,upstream_gene_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;	360	166	131	SUCCESS
RSPO2	340419	.	GRCh37	8	109094862	109094862	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	39	0	ENST00000276659.5:c.5A>G	p.Gln2Arg	p.Q2R	ENST00000276659	NM_178565.4	2	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS6307.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTGCATC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF2	.	.	ENSP00000276659	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000276659	Transcript	.	.	ENSG00000147655	28583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.12)	.	RSPO2_HUMAN	RSPO2	HGNC	E5RJU7_HUMAN,E5RHC3_HUMAN,E5RH25_HUMAN,E5RGU9_HUMAN,B3KVP3_HUMAN	.	UPI000021046F	SNV	RSPO2,missense_variant,p.Gln2Arg,ENST00000378439,;RSPO2,missense_variant,p.Gln2Arg,ENST00000521956,;RSPO2,missense_variant,p.Gln2Arg,ENST00000276659,;RSPO2,missense_variant,p.Gln2Arg,ENST00000522333,;RSPO2,missense_variant,p.Gln2Arg,ENST00000517781,;RSPO2,upstream_gene_variant,,ENST00000517939,;	626	39	27	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110374775	110374775	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs373197226	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	31	0	ENST00000378402.5:c.-35G>T		p.*12*	ENST00000378402	NM_177531.4			0	A:0	.	.	.	.	T	.	protein_coding	YES	CCDS47911.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGAGCGGAG	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000367655	.	1/78	.	.	.	.	.	.	.	.	rs373197226	1/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,5_prime_UTR_variant,,ENST00000378402,;	70	31	17	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110413802	110413802	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs201291395	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	40	129	0	ENST00000378402.5:c.1358T>G	p.Leu453Arg	p.L453R	ENST00000378402	NM_177531.4	453	cTg/cGg	0	.	C:0	.	C:0	.	G	L/R	protein_coding	YES	CCDS47911.1	1358	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTGCAGA	NONE	byCluster|by1000G	.	Gene3D:1accA01,Pfam_domain:PF07691,SMART_domains:SM00758,Superfamily_domains:0034993	C:0.001	.	ENSP00000367655	C:0	14/78	.	.	.	.	.	.	.	.	rs201291395	14/78	PASS	ENST00000378402	Transcript	.	C:0.0002	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	C:0	deleterious(0)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Leu453Arg,ENST00000378402,;	1462	129	102	SUCCESS
CSMD3	114788	.	GRCh37	8	113237150	113237150	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	101	0	ENST00000297405.5:c.10974T>A	p.Pro3658=	p.P3658=	ENST00000297405	NM_198123.1	3658	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6315.1	10974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTAGGTGC	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44	.	.	ENSP00000297405	.	71/71	.	.	.	.	.	.	.	.	COSM603480,COSM1144767	71/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	11219	101	95	SUCCESS
CSMD3	114788	.	GRCh37	8	113702110	113702110	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	39	93	0	ENST00000297405.5:c.2142A>T	p.Ile714=	p.I714=	ENST00000297405	NM_198123.1	714	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS6315.1	2142	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGTATGTT	NONE	.	.	PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000297405	.	14/71	.	.	.	.	.	.	.	.	.	14/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,synonymous_variant,p.%3D,ENST00000352409,;CSMD3,synonymous_variant,p.%3D,ENST00000455883,;CSMD3,synonymous_variant,p.%3D,ENST00000297405,;CSMD3,synonymous_variant,p.%3D,ENST00000339701,;CSMD3,synonymous_variant,p.%3D,ENST00000343508,;	2387	93	84	SUCCESS
TNFRSF11B	4982	.	GRCh37	8	119936998	119936998	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1011249376	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	73	0	ENST00000297350.4:c.821T>A	p.Ile274Asn	p.I274N	ENST00000297350	NM_002546.3	274	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS6326.1	821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCAATATCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23097:SF90,hmmpanther:PTHR23097,SMART_domains:SM00005,PIRSF_domain:PIRSF038065,Superfamily_domains:SSF47986,Prints_domain:PR01975	.	.	ENSP00000297350	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000297350	Transcript	1	.	ENSG00000164761	11909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	TR11B_HUMAN	TNFRSF11B	HGNC	.	.	UPI0000157F05	SNV	TNFRSF11B,missense_variant,p.Ile274Asn,ENST00000297350,;TNFRSF11B,non_coding_transcript_exon_variant,,ENST00000521597,;TNFRSF11B,downstream_gene_variant,,ENST00000517352,;	1200	73	55	SUCCESS
ENPP2	5168	.	GRCh37	8	120594814	120594814	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	32	58	0	ENST00000075322.6:c.1572T>C	p.Asn524=	p.N524=	ENST00000075322	NM_001040092.2	524	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS6329.1	1728	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTATTAGG	NONE	.	.	hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21	.	.	ENSP00000259486	.	19/26	.	.	.	.	.	.	.	.	.	19/26	PASS	ENST00000259486	Transcript	.	.	ENSG00000136960	3357	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ENPP2_HUMAN	ENPP2	HGNC	.	.	UPI000013C57A	SNV	ENPP2,synonymous_variant,p.%3D,ENST00000522167,;ENPP2,synonymous_variant,p.%3D,ENST00000259486,;ENPP2,synonymous_variant,p.%3D,ENST00000075322,;ENPP2,synonymous_variant,p.%3D,ENST00000427067,;ENPP2,synonymous_variant,p.%3D,ENST00000522826,;ENPP2,upstream_gene_variant,,ENST00000518109,;ENPP2,upstream_gene_variant,,ENST00000523861,;	1778	58	84	SUCCESS
KLHL38	340359	.	GRCh37	8	124664565	124664565	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760977920	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	83	0	ENST00000325995.7:c.602T>C	p.Met201Thr	p.M201T	ENST00000325995	NM_001081675.2	201	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS43766.1	602	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCATGAGG	NONE	.	.	PIRSF_domain:PIRSF037037,SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412	.	.	ENSP00000321475	.	1/3	.	.	.	.	.	.	.	.	rs760977920	1/3	PASS	ENST00000325995	Transcript	.	.	ENSG00000175946	34435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	deleterious(0.04)	.	KLH38_HUMAN	KLHL38	HGNC	.	.	UPI00001D82D1	SNV	KLHL38,missense_variant,p.Met201Thr,ENST00000325995,;CTD-2552K11.2,intron_variant,,ENST00000524355,;	626	83	71	SUCCESS
FER1L6	654463	.	GRCh37	8	124987506	124987506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	88	299	0	ENST00000399018.1:c.643A>T	p.Thr215Ser	p.T215S	ENST00000399018		215	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS43767.1	643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGACCAGC	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546,Pfam_domain:PF08151,Superfamily_domains:SSF49562	.	.	ENSP00000428280	.	8/41	.	.	.	.	.	.	.	.	.	8/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.32)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Thr215Ser,ENST00000522917,;FER1L6,missense_variant,p.Thr215Ser,ENST00000399018,;	849	300	202	SUCCESS
FER1L6	654463	.	GRCh37	8	124998413	124998413	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs769712506	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	66	0	ENST00000399018.1:c.1516A>G	p.Ile506Val	p.I506V	ENST00000399018		506	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS43767.1	1516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTATTGGT	NONE	.	.	hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546	.	.	ENSP00000428280	.	12/41	.	.	.	.	.	.	.	.	rs769712506	12/41	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.18)	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,missense_variant,p.Ile506Val,ENST00000522917,;FER1L6,missense_variant,p.Ile506Val,ENST00000399018,;FER1L6-AS1,intron_variant,,ENST00000518567,;	1722	66	56	SUCCESS
FER1L6-AS2	157376	.	GRCh37	8	125072762	125072762	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	63	0	ENST00000520031.1:n.367A>T		p.*123*	ENST00000520031				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43767.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGTGATGG	NONE	.	.	.	.	.	ENSP00000428280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000522917	Transcript	.	.	ENSG00000214814	28065	.	.	MODIFIER	23/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FR1L6_HUMAN	FER1L6	HGNC	.	.	UPI0000E9B4AA	SNV	FER1L6,intron_variant,,ENST00000522917,;FER1L6,intron_variant,,ENST00000399018,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000601180,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000520031,;	.	63	42	SUCCESS
ASAP1	50807	.	GRCh37	8	131130809	131130809	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	106	0	ENST00000518721.1:c.1720A>T	p.Arg574Trp	p.R574W	ENST00000518721	NM_001247996.1	574	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS6362.1	1720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGGATT	NONE	.	.	hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180,Superfamily_domains:SSF48403	.	.	ENSP00000350297	.	18/29	.	.	.	.	.	.	.	.	.	18/29	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.768)	.	deleterious(0)	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,missense_variant,p.Arg574Trp,ENST00000518721,;ASAP1,missense_variant,p.Arg395Trp,ENST00000524124,;ASAP1,missense_variant,p.Arg574Trp,ENST00000357668,;ASAP1,upstream_gene_variant,,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000521057,;	1748	106	82	SUCCESS
TRAPPC9	83696	.	GRCh37	8	140898164	140898164	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	90	230	0	ENST00000438773.2:c.3014A>C	p.Gln1005Pro	p.Q1005P	ENST00000438773	NM_001160372.1	1005	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS34946.1	3308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCTGGTTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11	.	.	ENSP00000373979	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000389328	Transcript	1	.	ENSG00000167632	30832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	tolerated(0.34)	.	TPPC9_HUMAN	TRAPPC9	HGNC	.	.	UPI0000DBEF2B	SNV	TRAPPC9,missense_variant,p.Gln849Pro,ENST00000520857,;TRAPPC9,missense_variant,p.Gln996Pro,ENST00000389327,;TRAPPC9,missense_variant,p.Gln1103Pro,ENST00000389328,;TRAPPC9,missense_variant,p.Gln1005Pro,ENST00000438773,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521667,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000522504,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000523777,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000524162,;TRAPPC9,intron_variant,,ENST00000519482,;	3323	230	185	SUCCESS
DENND3	22898	.	GRCh37	8	142185462	142185462	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	97	0	ENST00000262585.2:c.2199A>T	p.Leu733=	p.L733=	ENST00000262585	NM_014957.2	733	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS34947.1	2199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTAGGCGT	NONE	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	.	.	ENSP00000262585	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,synonymous_variant,p.%3D,ENST00000519811,;DENND3,synonymous_variant,p.%3D,ENST00000424248,;DENND3,synonymous_variant,p.%3D,ENST00000262585,;DENND3,synonymous_variant,p.%3D,ENST00000518668,;DENND3,upstream_gene_variant,,ENST00000517985,;DENND3,non_coding_transcript_exon_variant,,ENST00000523066,;DENND3,upstream_gene_variant,,ENST00000518806,;DENND3,non_coding_transcript_exon_variant,,ENST00000520482,;	2477	97	71	SUCCESS
DENND3	22898	.	GRCh37	8	142188201	142188201	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	23	46	0	ENST00000262585.2:c.2502C>A	p.Val834=	p.V834=	ENST00000262585	NM_014957.2	834	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS34947.1	2502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTCTTGCT	NONE	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	.	.	ENSP00000262585	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,synonymous_variant,p.%3D,ENST00000519811,;DENND3,synonymous_variant,p.%3D,ENST00000424248,;DENND3,synonymous_variant,p.%3D,ENST00000262585,;DENND3,synonymous_variant,p.%3D,ENST00000518668,;DENND3,upstream_gene_variant,,ENST00000517985,;DENND3,non_coding_transcript_exon_variant,,ENST00000518806,;DENND3,downstream_gene_variant,,ENST00000523066,;DENND3,downstream_gene_variant,,ENST00000520482,;	2780	46	35	SUCCESS
TSNARE1	203062	.	GRCh37	8	143425368	143425368	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	72	0	ENST00000524325.1:c.704A>C	p.Gln235Pro	p.Q235P	ENST00000524325		235	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS6384.1	704	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTGGCAA	NONE	.	.	hmmpanther:PTHR19957:SF38,hmmpanther:PTHR19957	.	.	ENSP00000303437	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000307180	Transcript	.	.	ENSG00000171045	26437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.12)	.	TSNA1_HUMAN	TSNARE1	HGNC	E5RHW3_HUMAN,A0AVG3_HUMAN	.	UPI00001AEE5E	SNV	TSNARE1,missense_variant,p.Gln235Pro,ENST00000524325,;TSNARE1,missense_variant,p.Gln235Pro,ENST00000307180,;TSNARE1,missense_variant,p.Gln235Pro,ENST00000520166,;TSNARE1,intron_variant,,ENST00000519651,;TSNARE1,downstream_gene_variant,,ENST00000520462,;TSNARE1,downstream_gene_variant,,ENST00000518720,;	822	72	64	SUCCESS
CCDC166	100130274	.	GRCh37	8	144789934	144789934	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	9	16	0	ENST00000533508.1:c.292T>G	p.Tyr98Asp	p.Y98D	ENST00000533508		98	Tac/Gac	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS55280.1	346	RADIA|MUTECT|MUSE	.	GTGGTAGAGCG	NONE	.	.	Pfam_domain:PF14988,hmmpanther:PTHR14845:SF1,hmmpanther:PTHR14845	.	.	ENSP00000437468	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000542437	Transcript	.	.	ENSG00000255181	41910	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CC166_HUMAN	CCDC166	HGNC	.	.	UPI00016623E2	SNV	CCDC166,missense_variant,p.Tyr98Asp,ENST00000533508,;CCDC166,missense_variant,p.Tyr116Asp,ENST00000542437,;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	346	16	12	SUCCESS
FAM83H	286077	.	GRCh37	8	144808647	144808647	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	28	0	ENST00000388913.3:c.2984A>T	p.Gln995Leu	p.Q995L	ENST00000388913	NM_198488.3	995	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS6410.2	2984	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGTTGGCCG	NONE	.	.	hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	.	.	ENSP00000373565	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000388913	Transcript	1	.	ENSG00000180921	24797	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0.01)	.	FA83H_HUMAN	FAM83H	HGNC	F4ZCG5_HUMAN	.	UPI00001D823F	SNV	FAM83H,missense_variant,p.Gln995Leu,ENST00000388913,;MAPK15,downstream_gene_variant,,ENST00000338033,;FAM83H,missense_variant,p.Gln722Leu,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000528175,;MAPK15,downstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000484654,;	3110	28	24	SUCCESS
PLEC	5339	.	GRCh37	8	144996711	144996711	+	synonymous_variant	Silent	SNP	G	G	T	rs782051668	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	33	0	ENST00000322810.4:c.7797C>A	p.Leu2599=	p.L2599=	ENST00000322810	NM_201380.2	2599	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43772.1	7797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGAGCTT	NONE	.	.	hmmpanther:PTHR11915:SF247,hmmpanther:PTHR11915,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000323856	.	31/32	.	.	.	.	.	.	.	.	rs782051668	31/32	PASS	ENST00000322810	Transcript	1	.	ENSG00000178209	9069	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLEC_HUMAN	PLEC	HGNC	Q96IE3_HUMAN,E9PQ28_HUMAN	.	UPI0000233FCD	SNV	PLEC,synonymous_variant,p.%3D,ENST00000322810,;PLEC,synonymous_variant,p.%3D,ENST00000527096,;PLEC,synonymous_variant,p.%3D,ENST00000345136,;PLEC,synonymous_variant,p.%3D,ENST00000357649,;PLEC,synonymous_variant,p.%3D,ENST00000398774,;PLEC,synonymous_variant,p.%3D,ENST00000354589,;PLEC,synonymous_variant,p.%3D,ENST00000356346,;PLEC,synonymous_variant,p.%3D,ENST00000436759,;PLEC,synonymous_variant,p.%3D,ENST00000354958,;PLEC,intron_variant,,ENST00000527303,;	7967	33	15	SUCCESS
SLC52A2	79581	.	GRCh37	8	145584307	145584307	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	17	0	ENST00000329994.2:c.1059G>A	p.Leu353=	p.L353=	ENST00000329994	NM_024531.4	353	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS6423.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTGATGGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF5,Pfam_domain:PF06237	.	.	ENSP00000436768	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000532887	Transcript	1	.	ENSG00000185803	30224	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S52A2_HUMAN	SLC52A2	HGNC	F5GXA8_HUMAN,E9PRC3_HUMAN,E9PIX2_HUMAN	.	UPI000004470A	SNV	SLC52A2,synonymous_variant,p.%3D,ENST00000532887,;SLC52A2,synonymous_variant,p.%3D,ENST00000527078,;SLC52A2,synonymous_variant,p.%3D,ENST00000530047,;SLC52A2,synonymous_variant,p.%3D,ENST00000540505,;SLC52A2,synonymous_variant,p.%3D,ENST00000402965,;SLC52A2,synonymous_variant,p.%3D,ENST00000329994,;SLC52A2,intron_variant,,ENST00000526752,;FBXL6,upstream_gene_variant,,ENST00000331890,;SLC52A2,downstream_gene_variant,,ENST00000526338,;FBXL6,upstream_gene_variant,,ENST00000455319,;SLC52A2,downstream_gene_variant,,ENST00000524541,;SLC52A2,downstream_gene_variant,,ENST00000534725,;SLC52A2,downstream_gene_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000530687,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000526891,;SLC52A2,3_prime_UTR_variant,,ENST00000526779,;SLC52A2,downstream_gene_variant,,ENST00000533662,;FBXL6,upstream_gene_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000529279,;FBXL6,upstream_gene_variant,,ENST00000524492,;	1642	17	17	SUCCESS
TUSC3	7991	.	GRCh37	8	15480679	15480679	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs779049092	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	41	96	1	ENST00000503731.1:c.229A>T	p.Ile77Leu	p.I77L	ENST00000503731	NM_006765.3	77	Ata/Tta	0	.	.	.	.	.	T	I/L	protein_coding	YES	CCDS5994.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTATAAAG	NONE	byFrequency	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833	.	.	ENSP00000424544	.	2/11	.	.	.	.	.	.	.	.	rs779049092	2/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Ile77Leu,ENST00000382020,;TUSC3,missense_variant,p.Ile31Leu,ENST00000511783,;TUSC3,missense_variant,p.Ile77Leu,ENST00000506802,;TUSC3,missense_variant,p.Ile77Leu,ENST00000509380,;TUSC3,missense_variant,p.Ile77Leu,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,missense_variant,p.Ile77Leu,ENST00000515859,;TUSC3,missense_variant,p.Ile77Leu,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000509177,;	377	97	51	SUCCESS
LZTS1	11178	.	GRCh37	8	20110758	20110758	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	11	45	0	ENST00000265801.6:c.684G>A	p.Lys228=	p.K228=	ENST00000265801	NM_021020.2	228	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS6015.1	684	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCTTCAG	NONE	.	.	hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354	.	.	ENSP00000370981	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000381569	Transcript	1	.	ENSG00000061337	13861	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS1_HUMAN	LZTS1	HGNC	.	.	UPI000006DEE8	SNV	LZTS1,synonymous_variant,p.%3D,ENST00000522290,;LZTS1,synonymous_variant,p.%3D,ENST00000381569,;LZTS1,synonymous_variant,p.%3D,ENST00000265801,;	1042	45	13	SUCCESS
CCAR2	57805	.	GRCh37	8	22476767	22476767	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs201420827	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	52	0	ENST00000308511.4:c.2626C>G	p.Arg876Gly	p.R876G	ENST00000308511		876	Cgg/Ggg	0	T:0.0002	T:0	.	T:0	.	G	R/G	protein_coding	YES	CCDS34863.1	2626	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCGGACG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF12	T:0.001	T:0	ENSP00000310670	T:0	20/21	.	.	.	.	.	.	.	.	rs201420827	20/21	PASS	ENST00000308511	Transcript	.	T:0.0002	ENSG00000158941	23360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	T:0	deleterious(0)	.	CCAR2_HUMAN	CCAR2	HGNC	E5RGU7_HUMAN,E5RFJ3_HUMAN,E2PSM9_HUMAN	.	UPI0000070A46	SNV	CCAR2,missense_variant,p.Arg876Gly,ENST00000389279,;CCAR2,missense_variant,p.Arg568Gly,ENST00000520738,;CCAR2,missense_variant,p.Arg551Gly,ENST00000520861,;CCAR2,missense_variant,p.Arg876Gly,ENST00000308511,;BIN3,downstream_gene_variant,,ENST00000276416,;BIN3,downstream_gene_variant,,ENST00000399977,;CCAR2,downstream_gene_variant,,ENST00000522599,;BIN3,downstream_gene_variant,,ENST00000519513,;RP11-582J16.5,upstream_gene_variant,,ENST00000521025,;BIN3,downstream_gene_variant,,ENST00000519335,;BIN3,downstream_gene_variant,,ENST00000519863,;CCAR2,non_coding_transcript_exon_variant,,ENST00000520536,;CCAR2,non_coding_transcript_exon_variant,,ENST00000521436,;BIN3,downstream_gene_variant,,ENST00000520489,;CCAR2,downstream_gene_variant,,ENST00000521020,;BIN3,downstream_gene_variant,,ENST00000522687,;	2875	52	25	SUCCESS
ADAM7	8756	.	GRCh37	8	24346837	24346837	+	synonymous_variant	Silent	SNP	C	C	T	rs1215930126	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	22	51	0	ENST00000175238.6:c.1257C>T	p.Gly419=	p.G419=	ENST00000175238	NM_003817.3	419	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6045.1	1257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCCCTGC	NONE	.	.	PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552	.	.	ENSP00000175238	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000175238	Transcript	.	.	ENSG00000069206	214	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAM7_HUMAN	ADAM7	HGNC	.	.	UPI000013C5CC	SNV	ADAM7,synonymous_variant,p.%3D,ENST00000175238,;ADAM7,synonymous_variant,p.%3D,ENST00000520720,;ADAM7,synonymous_variant,p.%3D,ENST00000380789,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-561E1.1,downstream_gene_variant,,ENST00000519364,;	1340	51	30	SUCCESS
ZNF395	55893	.	GRCh37	8	28206270	28206270	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765804551	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	0	22	82	0	ENST00000344423.5:c.1508G>A	p.Arg503Gln	p.R503Q	ENST00000344423	NM_018660.2	503	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6067.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACCGGCAG	NONE	byFrequency	.	hmmpanther:PTHR13006:SF6,hmmpanther:PTHR13006	.	.	ENSP00000340494	.	10/10	.	.	.	.	.	.	.	.	rs765804551	10/10	PASS	ENST00000344423	Transcript	.	.	ENSG00000186918	18737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN395_HUMAN	ZNF395	HGNC	E5RH90_HUMAN,E5RGF1_HUMAN,E5RG59_HUMAN,E5RFV4_HUMAN	.	UPI0000073F08	SNV	ZNF395,missense_variant,p.Arg503Gln,ENST00000344423,;ZNF395,missense_variant,p.Arg503Gln,ENST00000523095,;ZNF395,missense_variant,p.Arg503Gln,ENST00000523202,;ZNF395,3_prime_UTR_variant,,ENST00000520535,;FBXO16,3_prime_UTR_variant,,ENST00000521548,;ZNF395,downstream_gene_variant,,ENST00000517372,;	1640	82	22	SUCCESS
CSMD1	64478	.	GRCh37	8	2823327	2823327	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	41	129	0	ENST00000537824.1:c.9250A>T	p.Arg3084Trp	p.R3084W	ENST00000537824	NM_033225.5	3084	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS55189.1	9250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTGCCGT	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	59/70	.	.	.	.	.	.	.	.	.	59/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Arg2502Trp,ENST00000335551,;CSMD1,missense_variant,p.Arg3084Trp,ENST00000537824,;CSMD1,missense_variant,p.Arg3085Trp,ENST00000602557,;CSMD1,missense_variant,p.Arg3085Trp,ENST00000520002,;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000542608,;CSMD1,intron_variant,,ENST00000602723,;	9250	129	58	SUCCESS
CSMD1	64478	.	GRCh37	8	2944651	2944651	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	13	58	0	ENST00000537824.1:c.7442A>T	p.Tyr2481Phe	p.Y2481F	ENST00000537824	NM_033225.5	2481	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS55189.1	7442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGTACATG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	49/70	.	.	.	.	.	.	.	.	.	49/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Tyr2482Phe,ENST00000400186,;CSMD1,missense_variant,p.Tyr2481Phe,ENST00000542608,;CSMD1,missense_variant,p.Tyr2482Phe,ENST00000602723,;CSMD1,missense_variant,p.Tyr1899Phe,ENST00000335551,;CSMD1,missense_variant,p.Tyr2481Phe,ENST00000537824,;CSMD1,missense_variant,p.Tyr2482Phe,ENST00000602557,;CSMD1,missense_variant,p.Tyr2482Phe,ENST00000520002,;	7442	58	16	SUCCESS
CSMD1	64478	.	GRCh37	8	2964161	2964161	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs752686366	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	37	114	0	ENST00000537824.1:c.6838G>T	p.Asp2280Tyr	p.D2280Y	ENST00000537824	NM_033225.5	2280	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS55189.1	6838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCTCCTA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	46/70	.	.	.	.	.	.	.	.	rs752686366,COSM3648154,COSM3648153	46/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.923)	.	.	0,1,1	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,missense_variant,p.Asp2281Tyr,ENST00000400186,;CSMD1,missense_variant,p.Asp2280Tyr,ENST00000542608,;CSMD1,missense_variant,p.Asp2281Tyr,ENST00000602723,;CSMD1,missense_variant,p.Asp1761Tyr,ENST00000335551,;CSMD1,missense_variant,p.Asp2280Tyr,ENST00000537824,;CSMD1,missense_variant,p.Asp2281Tyr,ENST00000520002,;CSMD1,missense_variant,p.Asp2281Tyr,ENST00000602557,;CSMD1,downstream_gene_variant,,ENST00000520561,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523062,;	6838	114	47	SUCCESS
CSMD1	64478	.	GRCh37	8	3216815	3216815	+	synonymous_variant	Silent	SNP	G	G	T	rs1387717447	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	42	102	0	ENST00000537824.1:c.3163C>A	p.Arg1055=	p.R1055=	ENST00000537824	NM_033225.5	1055	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS55189.1	3163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCGGCTGA	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	21/70	.	.	.	.	.	.	.	.	.	21/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	3163	102	52	SUCCESS
UNC5D	137970	.	GRCh37	8	35631946	35631946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	43	97	0	ENST00000404895.2:c.2608G>T	p.Ala870Ser	p.A870S	ENST00000404895	NM_080872.2	870	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6093.2	2608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATGCCAAA	NONE	.	.	hmmpanther:PTHR12582:SF5,hmmpanther:PTHR12582,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986	.	.	ENSP00000385143	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.303)	.	tolerated(0.9)	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,missense_variant,p.Ala446Ser,ENST00000449677,;UNC5D,missense_variant,p.Ala865Ser,ENST00000453357,;UNC5D,missense_variant,p.Ala875Ser,ENST00000416672,;UNC5D,missense_variant,p.Ala870Ser,ENST00000404895,;UNC5D,missense_variant,p.Ala801Ser,ENST00000287272,;UNC5D,missense_variant,p.Ala803Ser,ENST00000420357,;	2936	97	53	SUCCESS
IDO1	3620	.	GRCh37	8	39785506	39785506	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	47	131	0	ENST00000518237.1:c.1014T>A	p.Ala338=	p.A338=	ENST00000518237	NM_002164.5	338	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS47847.1	1014	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTCTGGT	NONE	.	.	Pfam_domain:PF01231,Superfamily_domains:SSF140959	.	.	ENSP00000430950	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000518237	Transcript	.	.	ENSG00000131203	6059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I23O1_HUMAN	IDO1	HGNC	E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN	.	UPI00000012AA	SNV	IDO1,synonymous_variant,p.%3D,ENST00000522495,;IDO1,synonymous_variant,p.%3D,ENST00000518237,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,non_coding_transcript_exon_variant,,ENST00000523779,;IDO1,downstream_gene_variant,,ENST00000521480,;	1653	131	91	SUCCESS
C8orf4	0	.	GRCh37	8	40011185	40011185	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	36	93	0	ENST00000315792.3:c.134A>C	p.Gln45Pro	p.Q45P	ENST00000315792	NM_020130.4	45	cAa/cCa	0	.	.	.	.	.	C	Q/P	protein_coding	YES	CCDS6115.1	134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCAAGAAT	NONE	.	.	hmmpanther:PTHR32358,hmmpanther:PTHR32358:SF1,Pfam_domain:PF15063	.	.	ENSP00000319914	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315792	Transcript	.	.	ENSG00000176907	1357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.143)	.	tolerated(0.13)	.	CH004_HUMAN	C8orf4	HGNC	.	.	UPI000013FBD4	SNV	C8orf4,missense_variant,p.Gln45Pro,ENST00000315792,;	197	93	65	SUCCESS
ANK1	286	.	GRCh37	8	41519015	41519015	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	38	0	ENST00000347528.4:c.5619+304A>T		p.*1873*	ENST00000347528	NM_020477.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47849.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCTTCACT	NONE	.	.	.	.	.	ENSP00000265709	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODIFIER	42/42	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Lys1031Met,ENST00000520299,;ANK1,missense_variant,p.Lys1849Met,ENST00000352337,;ANK1,missense_variant,p.Lys146Met,ENST00000314214,;ANK1,missense_variant,p.Lys1871Met,ENST00000289734,;ANK1,missense_variant,p.Lys1896Met,ENST00000396942,;ANK1,intron_variant,,ENST00000348036,;ANK1,intron_variant,,ENST00000522231,;ANK1,intron_variant,,ENST00000522543,;ANK1,intron_variant,,ENST00000396945,;ANK1,intron_variant,,ENST00000265709,;ANK1,intron_variant,,ENST00000347528,;ANK1,intron_variant,,ENST00000457297,;ANK1,intron_variant,,ENST00000379758,;ANK1,downstream_gene_variant,,ENST00000335651,;MIR486,downstream_gene_variant,,ENST00000408108,;RP11-930P14.1,non_coding_transcript_exon_variant,,ENST00000585088,;RP11-930P14.1,non_coding_transcript_exon_variant,,ENST00000522388,;RP11-930P14.1,non_coding_transcript_exon_variant,,ENST00000520418,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,downstream_gene_variant,,ENST00000518715,;	.	38	38	SUCCESS
PRKDC	5591	.	GRCh37	8	48794060	48794060	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	59	190	0	ENST00000314191.2:c.4981A>G	p.Asn1661Asp	p.N1661D	ENST00000314191	NM_006904.6	1661	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	.	4981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATTAAAAG	BUFFER|p.N1661Y|c.4981A>T|7,BUFFER|p.N1662Y|c.4984A>T|7	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371	.	.	ENSP00000313420	.	39/87	.	.	.	.	.	.	.	.	COSM1457331,COSM1457330,COSM78352	39/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	benign(0.005)	.	.	1,1,1	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Asn1661Asp,ENST00000338368,;PRKDC,missense_variant,p.Asn1661Asp,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	5038	190	140	SUCCESS
MOS	4342	.	GRCh37	8	57026368	57026368	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1172732244	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	65	0	ENST00000311923.1:c.174G>T	p.Glu58Asp	p.E58D	ENST00000311923	NM_005372.1	58	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS6164.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCTCCCA	NONE	.	.	hmmpanther:PTHR23257,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	.	.	ENSP00000310722	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311923	Transcript	.	.	ENSG00000172680	7199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.56)	.	MOS_HUMAN	MOS	HGNC	.	.	UPI000012DF0C	SNV	MOS,missense_variant,p.Glu58Asp,ENST00000311923,;	174	65	50	SUCCESS
PLAG1	5324	.	GRCh37	8	57079715	57079715	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758727140	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	34	0	ENST00000316981.3:c.590G>A	p.Arg197Gln	p.R197Q	ENST00000316981	NM_002655.2	197	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS6165.1	590	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTCGGGTG	NONE	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF124,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000325546	.	5/5	.	.	.	.	.	.	.	.	rs758727140	5/5	PASS	ENST00000316981	Transcript	1	.	ENSG00000181690	9045	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	PLAG1_HUMAN	PLAG1	HGNC	A7IT80_HUMAN,A7IT79_HUMAN	.	UPI000013FF2F	SNV	PLAG1,missense_variant,p.Arg115Gln,ENST00000423799,;PLAG1,missense_variant,p.Arg197Gln,ENST00000316981,;PLAG1,missense_variant,p.Arg197Gln,ENST00000429357,;PLAG1,non_coding_transcript_exon_variant,,ENST00000522009,;	1070	34	22	SUCCESS
NSMAF	8439	.	GRCh37	8	59498516	59498516	+	synonymous_variant	Silent	SNP	A	A	G	rs754561848	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	72	0	ENST00000038176.3:c.2490T>C	p.Asn830=	p.N830=	ENST00000038176	NM_003580.3	830	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS47864.1	2583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACATTAAG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13743,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000411012	.	29/31	.	.	.	.	.	.	.	.	rs754561848	29/31	PASS	ENST00000427130	Transcript	.	.	ENSG00000035681	8017	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAN_HUMAN	NSMAF	HGNC	.	.	UPI000192950C	SNV	NSMAF,synonymous_variant,p.%3D,ENST00000038176,;NSMAF,synonymous_variant,p.%3D,ENST00000427130,;SDCBP,downstream_gene_variant,,ENST00000413219,;SDCBP,downstream_gene_variant,,ENST00000260130,;SDCBP,downstream_gene_variant,,ENST00000447267,;SDCBP,downstream_gene_variant,,ENST00000422546,;SDCBP,downstream_gene_variant,,ENST00000447182,;SDCBP,downstream_gene_variant,,ENST00000520168,;SDCBP,downstream_gene_variant,,ENST00000523483,;SDCBP,downstream_gene_variant,,ENST00000424270,;NSMAF,downstream_gene_variant,,ENST00000523177,;NSMAF,non_coding_transcript_exon_variant,,ENST00000521972,;NSMAF,downstream_gene_variant,,ENST00000523106,;NSMAF,downstream_gene_variant,,ENST00000519166,;NSMAF,downstream_gene_variant,,ENST00000519174,;NSMAF,downstream_gene_variant,,ENST00000524148,;NSMAF,downstream_gene_variant,,ENST00000517612,;NSMAF,downstream_gene_variant,,ENST00000521712,;AC068522.4,downstream_gene_variant,,ENST00000482895,;	2771	72	60	SUCCESS
TRPA1	8989	.	GRCh37	8	72983964	72983964	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	68	0	ENST00000262209.4:c.250A>T	p.Arg84Ter	p.R84*	ENST00000262209	NM_007332.2	84	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS34908.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTGGTGA	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	2/27	.	.	.	.	.	.	.	.	.	2/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,stop_gained,p.Arg84Ter,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000518916,;	458	68	64	SUCCESS
RDH10	157506	.	GRCh37	8	74233273	74233273	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	71	0	ENST00000240285.5:c.731A>G	p.Tyr244Cys	p.Y244C	ENST00000240285	NM_172037.4	244	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6213.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTTATCTTG	NONE	.	.	hmmpanther:PTHR24316:SF309,hmmpanther:PTHR24316,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735,Prints_domain:PR00081	.	.	ENSP00000240285	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000240285	Transcript	.	.	ENSG00000121039	19975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.04)	.	RDH10_HUMAN	RDH10	HGNC	E5RK48_HUMAN,E5RHJ9_HUMAN	.	UPI0000054C83	SNV	RDH10,missense_variant,p.Tyr244Cys,ENST00000240285,;RDH10,missense_variant,p.Tyr79Cys,ENST00000519380,;RDH10,downstream_gene_variant,,ENST00000521928,;RP11-434I12.2,intron_variant,,ENST00000514599,;RP11-434I12.2,intron_variant,,ENST00000517475,;RDH10,upstream_gene_variant,,ENST00000521013,;	1409	71	44	SUCCESS
SLC7A13	157724	.	GRCh37	8	87229922	87229922	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	53	128	0	ENST00000297524.3:c.956A>T	p.Gln319Leu	p.Q319L	ENST00000297524	NM_138817.2	319	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS34917.1	956	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTGGCTT	NONE	.	.	hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000297524	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000297524	Transcript	.	.	ENSG00000164893	23092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	tolerated(0.06)	.	S7A13_HUMAN	SLC7A13	HGNC	.	.	UPI000006DF39	SNV	SLC7A13,missense_variant,p.Gln310Leu,ENST00000419776,;SLC7A13,missense_variant,p.Gln319Leu,ENST00000297524,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;	1060	128	112	SUCCESS
CNBD1	168975	.	GRCh37	8	87899824	87899824	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs769862779	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	116	322	1	ENST00000518476.1:c.143T>A	p.Ile48Asn	p.I48N	ENST00000518476	NM_173538.2	48	aTt/aAt	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS55259.1	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACATTAGAG	NONE	.	.	.	.	.	ENSP00000430073	.	2/11	.	.	.	.	.	.	.	.	rs769862779	2/11	PASS	ENST00000518476	Transcript	.	.	ENSG00000176571	26663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	deleterious(0)	.	CNBD1_HUMAN	CNBD1	HGNC	.	.	UPI000006EA68	SNV	CNBD1,missense_variant,p.Ile48Asn,ENST00000518476,;CNBD1,non_coding_transcript_exon_variant,,ENST00000517748,;	194	324	263	SUCCESS
CNBD1	168975	.	GRCh37	8	88365947	88365947	+	synonymous_variant	Silent	SNP	T	T	G	rs764083564	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	172	477	0	ENST00000518476.1:c.1236T>G	p.Pro412=	p.P412=	ENST00000518476	NM_173538.2	412	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS55259.1	1236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCCTTTCAC	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF124,Pfam_domain:PF00027,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000430073	.	10/11	.	.	.	.	.	.	.	.	rs764083564	10/11	PASS	ENST00000518476	Transcript	.	.	ENSG00000176571	26663	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNBD1_HUMAN	CNBD1	HGNC	.	.	UPI000006EA68	SNV	CNBD1,synonymous_variant,p.%3D,ENST00000521593,;CNBD1,synonymous_variant,p.%3D,ENST00000523299,;CNBD1,synonymous_variant,p.%3D,ENST00000518476,;	1287	477	421	SUCCESS
NBN	4683	.	GRCh37	8	90995076	90995076	+	synonymous_variant	Silent	SNP	T	T	C	rs577332041	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	111	0	ENST00000265433.3:c.45A>G	p.Pro15=	p.P15=	ENST00000265433	NM_002485.4	15	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6249.1	45	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTATGGTTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12162,Gene3D:2.60.200.20,PIRSF_domain:PIRSF011869,Superfamily_domains:SSF49879	.	.	ENSP00000265433	.	2/16	.	.	.	.	.	.	.	.	rs577332041	2/16	PASS	ENST00000265433	Transcript	1	.	ENSG00000104320	7652	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBN_HUMAN	NBN	HGNC	E5RGR7_HUMAN,E5RGN7_HUMAN	.	UPI0000073BF4	SNV	NBN,synonymous_variant,p.%3D,ENST00000265433,;NBN,synonymous_variant,p.%3D,ENST00000519426,;NBN,5_prime_UTR_variant,,ENST00000517337,;NBN,5_prime_UTR_variant,,ENST00000409330,;NBN,upstream_gene_variant,,ENST00000517772,;NBN,synonymous_variant,p.%3D,ENST00000523444,;NBN,synonymous_variant,p.%3D,ENST00000396252,;NBN,non_coding_transcript_exon_variant,,ENST00000494804,;	200	111	84	SUCCESS
SLC26A7	115111	.	GRCh37	8	92401631	92401631	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	31	107	0	ENST00000276609.3:c.1741T>A	p.Phe581Ile	p.F581I	ENST00000276609	NM_052832.2	581	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS6255.1	1741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCTTTTTT	NONE	.	.	PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF01740,Gene3D:3.30.750.24,Superfamily_domains:SSF52091	.	.	ENSP00000309504	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.487)	.	deleterious(0)	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,missense_variant,p.Phe581Ile,ENST00000276609,;SLC26A7,missense_variant,p.Phe581Ile,ENST00000309536,;SLC26A7,missense_variant,p.Phe581Ile,ENST00000523719,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000517930,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;	1961	107	66	SUCCESS
RUNX1T1	862	.	GRCh37	8	92983058	92983058	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	32	0	ENST00000265814.3:c.1367T>A	p.Val456Glu	p.V456E	ENST00000265814	NM_001198628.1	456	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS56544.1	1400	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCACCTCA	BUFFER|p.V467M|c.1399G>A|6,BUFFER|p.V456M|c.1366G>A|6	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5,Prints_domain:PR01875	.	.	ENSP00000402257	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0.01)	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Val467Glu,ENST00000436581,;RUNX1T1,missense_variant,p.Val456Glu,ENST00000265814,;RUNX1T1,missense_variant,p.Val429Glu,ENST00000518844,;RUNX1T1,missense_variant,p.Val456Glu,ENST00000523629,;RUNX1T1,missense_variant,p.Val419Glu,ENST00000360348,;RUNX1T1,missense_variant,p.Val419Glu,ENST00000520724,;RUNX1T1,missense_variant,p.Val429Glu,ENST00000396218,;RUNX1T1,missense_variant,p.Val419Glu,ENST00000422361,;RUNX1T1,3_prime_UTR_variant,,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000521078,;	1411	32	31	SUCCESS
RUNX1T1	862	.	GRCh37	8	92998408	92998408	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777917271	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	78	0	ENST00000265814.3:c.1223G>A	p.Ser408Asn	p.S408N	ENST00000265814	NM_001198628.1	408	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS56544.1	1256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTACTGCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	.	.	ENSP00000402257	.	8/11	.	.	.	.	.	.	.	.	rs777917271,COSM751447,COSM751446,COSM751445	8/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	benign(0.093)	.	tolerated(0.45)	0,1,1,1	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,missense_variant,p.Ser419Asn,ENST00000436581,;RUNX1T1,missense_variant,p.Ser408Asn,ENST00000265814,;RUNX1T1,missense_variant,p.Ser381Asn,ENST00000518844,;RUNX1T1,missense_variant,p.Ser408Asn,ENST00000523629,;RUNX1T1,missense_variant,p.Ser371Asn,ENST00000360348,;RUNX1T1,missense_variant,p.Ser371Asn,ENST00000520724,;RUNX1T1,missense_variant,p.Ser381Asn,ENST00000396218,;RUNX1T1,missense_variant,p.Ser371Asn,ENST00000422361,;RUNX1T1,missense_variant,p.Ser108Asn,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,downstream_gene_variant,,ENST00000518361,;	1267	78	64	SUCCESS
TMEM67	91147	.	GRCh37	8	94798504	94798504	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	47	0	ENST00000453321.3:c.1342G>A	p.Val448Ile	p.V448I	ENST00000453321	NM_153704.5	448	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS6258.2	1342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGTAAGT	NONE	.	.	hmmpanther:PTHR21274:SF0,hmmpanther:PTHR21274,Pfam_domain:PF09773	.	.	ENSP00000389998	.	13/28	.	.	.	.	.	.	.	.	.	13/28	PASS	ENST00000453321	Transcript	1	.	ENSG00000164953	28396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.3)	.	MKS3_HUMAN	TMEM67	HGNC	E5RG10_HUMAN,C9JRQ8_HUMAN	.	UPI0000D624E9	SNV	TMEM67,missense_variant,p.Val154Ile,ENST00000453906,;TMEM67,missense_variant,p.Val345Ile,ENST00000452276,;TMEM67,missense_variant,p.Val367Ile,ENST00000409623,;TMEM67,missense_variant,p.Val448Ile,ENST00000453321,;TMEM67,missense_variant,p.Val56Ile,ENST00000520680,;TMEM67,downstream_gene_variant,,ENST00000520634,;TMEM67,downstream_gene_variant,,ENST00000425545,;TMEM67,missense_variant,p.Val438Ile,ENST00000323130,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,upstream_gene_variant,,ENST00000523230,;	1400	47	48	SUCCESS
KIAA1429	0	.	GRCh37	8	95501074	95501074	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	104	0	ENST00000297591.5:c.5299C>A	p.Pro1767Thr	p.P1767T	ENST00000297591	NM_015496.4	1767	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS34923.1	5299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGACTTG	NONE	.	.	hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	.	.	ENSP00000297591	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000297591	Transcript	.	.	ENSG00000164944	24500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.1)	.	VIR_HUMAN	KIAA1429	HGNC	.	.	UPI00001BBB23	SNV	KIAA1429,missense_variant,p.Pro1767Thr,ENST00000297591,;KIAA1429,3_prime_UTR_variant,,ENST00000437199,;KIAA1429,3_prime_UTR_variant,,ENST00000517624,;KIAA1429,3_prime_UTR_variant,,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000522196,;KIAA1429,downstream_gene_variant,,ENST00000523263,;	5375	104	63	SUCCESS
CCNE2	9134	.	GRCh37	8	95906153	95906153	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	136	0	ENST00000308108.4:c.131A>T	p.Glu44Val	p.E44V	ENST00000308108	NM_057749.2	44	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS6264.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTCTCTT	NONE	.	.	hmmpanther:PTHR10177:SF70,hmmpanther:PTHR10177,PIRSF_domain:PIRSF001771	.	.	ENSP00000429089	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000520509	Transcript	.	.	ENSG00000175305	1590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.1)	.	CCNE2_HUMAN	CCNE2	HGNC	.	.	UPI00001275CF	SNV	CCNE2,missense_variant,p.Glu44Val,ENST00000308108,;CCNE2,missense_variant,p.Glu44Val,ENST00000396133,;CCNE2,missense_variant,p.Glu44Val,ENST00000520509,;CCNE2,upstream_gene_variant,,ENST00000524224,;NDUFAF6,upstream_gene_variant,,ENST00000519136,;NDUFAF6,upstream_gene_variant,,ENST00000396113,;NDUFAF6,upstream_gene_variant,,ENST00000523378,;CCNE2,upstream_gene_variant,,ENST00000523476,;CCNE2,missense_variant,p.Arg53Ser,ENST00000519889,;CCNE2,missense_variant,p.Glu44Val,ENST00000521809,;CCNE2,non_coding_transcript_exon_variant,,ENST00000517487,;RP11-347C18.1,downstream_gene_variant,,ENST00000391360,;	384	136	109	SUCCESS
HEMGN	55363	.	GRCh37	9	100698475	100698475	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	136	0	ENST00000259456.3:c.151G>T	p.Glu51Ter	p.E51*	ENST00000259456	NM_018437.4	51	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS6731.1	151	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCCTTTT	NONE	.	.	hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993	.	.	ENSP00000259456	.	3/5	.	.	.	.	.	.	.	.	COSM1701394	3/5	PASS	ENST00000259456	Transcript	.	.	ENSG00000136929	17509	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	HEMGN_HUMAN	HEMGN	HGNC	.	.	UPI000004D311	SNV	HEMGN,stop_gained,p.Glu51Ter,ENST00000259456,;	295	136	64	SUCCESS
NR4A3	8013	.	GRCh37	9	102590707	102590707	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	12	31	0	ENST00000395097.2:c.383T>A	p.Leu128Gln	p.L128Q	ENST00000395097	NM_173200.2	128	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS6742.1	416	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTGCCCA	NONE	.	.	Prints_domain:PR01286,hmmpanther:PTHR24085:SF2,hmmpanther:PTHR24085	.	.	ENSP00000333122	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000330847	Transcript	.	.	ENSG00000119508	7982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0.03)	.	NR4A3_HUMAN	NR4A3	HGNC	.	.	UPI0000160FE4	SNV	NR4A3,missense_variant,p.Leu139Gln,ENST00000330847,;NR4A3,missense_variant,p.Leu128Gln,ENST00000338488,;NR4A3,missense_variant,p.Leu128Gln,ENST00000395097,;	460	31	16	SUCCESS
CYLC2	1539	.	GRCh37	9	105767379	105767379	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	57	131	0	ENST00000374798.3:c.466G>T	p.Asp156Tyr	p.D156Y	ENST00000374798	NM_001340.3	156	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS35085.1	466	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTAGATGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742	.	.	ENSP00000420256	.	5/8	.	.	.	.	.	.	.	.	COSM1553799	5/8	PASS	ENST00000374798	Transcript	.	.	ENSG00000155833	2583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious(0.02)	1	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,missense_variant,p.Asp156Tyr,ENST00000374798,;CYLC2,missense_variant,p.Asp156Tyr,ENST00000487798,;	536	131	68	SUCCESS
CYLC2	1539	.	GRCh37	9	105767380	105767380	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	128	0	ENST00000374798.3:c.467A>C	p.Asp156Ala	p.D156A	ENST00000374798	NM_001340.3	156	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS35085.1	467	RADIA|MUTECT|MUSE|VARSCANS	.	GCTAGATGCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16742	.	.	ENSP00000420256	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000374798	Transcript	.	.	ENSG00000155833	2583	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.44)	.	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,missense_variant,p.Asp156Ala,ENST00000374798,;CYLC2,missense_variant,p.Asp156Ala,ENST00000487798,;	537	128	68	SUCCESS
ABCA1	19	.	GRCh37	9	107620923	107620923	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	64	129	0	ENST00000374736.3:c.600A>T	p.Ser200=	p.S200=	ENST00000374736	NM_005502.3	200	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6762.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGATTT	NONE	.	.	hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229	.	.	ENSP00000363868	.	7/50	.	.	.	.	.	.	.	.	.	7/50	PASS	ENST00000374736	Transcript	.	.	ENSG00000165029	29	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA1_HUMAN	ABCA1	HGNC	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN	.	UPI000013E441	SNV	ABCA1,synonymous_variant,p.%3D,ENST00000374736,;ABCA1,synonymous_variant,p.%3D,ENST00000423487,;ABCA1,downstream_gene_variant,,ENST00000374733,;	995	129	75	SUCCESS
AKNA	80709	.	GRCh37	9	117106039	117106039	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	38	105	0	ENST00000307564.4:c.3706A>G	p.Asn1236Asp	p.N1236D	ENST00000307564	NM_030767.4	1236	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS6805.1	3706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATTGCCTT	NONE	.	.	hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510	.	.	ENSP00000303769	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000307564	Transcript	.	.	ENSG00000106948	24108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.17)	.	AKNA_HUMAN	AKNA	HGNC	.	.	UPI000021168C	SNV	AKNA,missense_variant,p.Asn1236Asp,ENST00000307564,;AKNA,missense_variant,p.Asn1236Asp,ENST00000374088,;AKNA,missense_variant,p.Asn181Asp,ENST00000374079,;AKNA,missense_variant,p.Asn696Asp,ENST00000223791,;AKNA,missense_variant,p.Asn1155Asp,ENST00000374075,;AKNA,non_coding_transcript_exon_variant,,ENST00000492875,;AKNA,downstream_gene_variant,,ENST00000491133,;	3868	105	55	SUCCESS
AKNA	80709	.	GRCh37	9	117118383	117118383	+	synonymous_variant	Silent	SNP	T	T	A	rs751187461	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	19	70	0	ENST00000307564.4:c.2880A>T	p.Ala960=	p.A960=	ENST00000307564	NM_030767.4	960	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6805.1	2880	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGATGCAGC	NONE	byFrequency	.	hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510	.	.	ENSP00000303769	.	14/22	.	.	.	.	.	.	.	.	rs751187461	14/22	PASS	ENST00000307564	Transcript	.	.	ENSG00000106948	24108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKNA_HUMAN	AKNA	HGNC	.	.	UPI000021168C	SNV	AKNA,synonymous_variant,p.%3D,ENST00000307564,;AKNA,synonymous_variant,p.%3D,ENST00000374088,;AKNA,synonymous_variant,p.%3D,ENST00000223791,;AKNA,synonymous_variant,p.%3D,ENST00000374075,;AKNA,downstream_gene_variant,,ENST00000312033,;AKNA,downstream_gene_variant,,ENST00000490767,;	3042	70	27	SUCCESS
TLR4	7099	.	GRCh37	9	120475741	120475741	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	88	0	ENST00000355622.6:c.1335A>T	p.Ser445=	p.S445=	ENST00000355622	NM_138557.2	445	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6818.1	1335	RADIA|MUTECT|VARSCANS	.	CTATCACTCAG	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52047	.	.	ENSP00000363089	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000355622	Transcript	.	.	ENSG00000136869	11850	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TLR4_HUMAN	TLR4	HGNC	K9MSZ3_HUMAN,D0EWT7_HUMAN	.	UPI0000137057	SNV	TLR4,synonymous_variant,p.%3D,ENST00000355622,;TLR4,synonymous_variant,p.%3D,ENST00000394487,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	1436	88	34	SUCCESS
DAB2IP	153090	.	GRCh37	9	124522473	124522473	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	21	56	0	ENST00000408936.3:c.925A>C	p.Lys309Gln	p.K309Q	ENST00000408936		309	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS6833.2	841	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGAAGTGG	NONE	.	.	hmmpanther:PTHR10194:SF26,hmmpanther:PTHR10194,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000259371	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000259371	Transcript	.	.	ENSG00000136848	17294	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.43)	.	DAB2P_HUMAN	DAB2IP	HGNC	H0Y3A3_HUMAN,F8WA47_HUMAN,F6R503_HUMAN,B3KW96_HUMAN	.	UPI0000D77E70	SNV	DAB2IP,missense_variant,p.Lys309Gln,ENST00000408936,;DAB2IP,missense_variant,p.Lys281Gln,ENST00000259371,;DAB2IP,missense_variant,p.Lys185Gln,ENST00000436835,;DAB2IP,missense_variant,p.Lys218Gln,ENST00000373782,;DAB2IP,missense_variant,p.Lys281Gln,ENST00000394340,;DAB2IP,missense_variant,p.Lys185Gln,ENST00000309989,;DAB2IP,downstream_gene_variant,,ENST00000487716,;DAB2IP,upstream_gene_variant,,ENST00000459906,;	910	56	25	SUCCESS
OR1L3	26735	.	GRCh37	9	125437543	125437543	+	synonymous_variant	Silent	SNP	C	C	T	rs367667552	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	40	107	0	ENST00000304820.2:c.135C>T	p.Ile45=	p.I45=	ENST00000304820	NM_001005234.1	45	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS35128.1	135	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATCATCTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF198,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000302863	.	1/1	.	.	.	.	.	.	.	.	rs367667552	1/1	PASS	ENST00000304820	Transcript	.	.	ENSG00000171481	8215	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR1L3_HUMAN	OR1L3	HGNC	.	.	UPI000004618D	SNV	OR1L3,synonymous_variant,p.%3D,ENST00000304820,;	229	107	45	SUCCESS
RABGAP1	23637	.	GRCh37	9	125782674	125782674	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs776544428	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	23	54	0	ENST00000373647.4:c.1730A>T	p.Gln577Leu	p.Q577L	ENST00000373647	NM_012197.3	577	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6848.2	1730	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCAGCTGC	NONE	.	.	PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF208,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	.	.	ENSP00000362751	.	13/26	.	.	.	.	.	.	.	.	rs776544428	13/26	PASS	ENST00000373647	Transcript	.	.	ENSG00000011454	17155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.07)	.	RBGP1_HUMAN	RABGAP1	HGNC	B7Z2B4_HUMAN,B5MCD9_HUMAN	.	UPI00000373F8	SNV	RABGAP1,missense_variant,p.Gln577Leu,ENST00000373647,;RABGAP1,missense_variant,p.Gln509Leu,ENST00000456584,;	1864	54	27	SUCCESS
LHX2	9355	.	GRCh37	9	126794984	126794984	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	54	146	0	ENST00000373615.4:c.1219T>C	p.Ter407GlnextTer1	p.*407Qext*1	ENST00000373615	NM_004789.3	407	Taa/Caa	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS6853.1	1219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTAATGA	NONE	.	.	.	.	.	ENSP00000362717	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000373615	Transcript	.	.	ENSG00000106689	6594	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX2_HUMAN	LHX2	HGNC	.	.	UPI000012E659	SNV	LHX2,stop_lost,p.Ter413GlnextTer1,ENST00000446480,;LHX2,stop_lost,p.Ter407GlnextTer1,ENST00000373615,;LHX2,3_prime_UTR_variant,,ENST00000488674,;RP11-85O21.5,upstream_gene_variant,,ENST00000429482,;	1958	146	67	SUCCESS
GAPVD1	26130	.	GRCh37	9	128124887	128124887	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	21	58	0	ENST00000394104.2:c.4299A>G		p.X1433_splice	ENST00000394104	NM_001282679.1	1433	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS35138.1	4326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCAAATCC	NONE	.	.	PROSITE_profiles:PS51205,hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Pfam_domain:PF02204,SMART_domains:SM00167,Superfamily_domains:0044157	.	.	ENSP00000377665	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000394105	Transcript	.	.	ENSG00000165219	23375	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAPD1_HUMAN	GAPVD1	HGNC	C9IZX9_HUMAN	.	UPI00001D76F1	SNV	GAPVD1,synonymous_variant,p.%3D,ENST00000297933,;GAPVD1,synonymous_variant,p.%3D,ENST00000470056,;GAPVD1,synonymous_variant,p.%3D,ENST00000394104,;GAPVD1,synonymous_variant,p.%3D,ENST00000394105,;GAPVD1,synonymous_variant,p.%3D,ENST00000265956,;GAPVD1,synonymous_variant,p.%3D,ENST00000394083,;GAPVD1,synonymous_variant,p.%3D,ENST00000495955,;GAPVD1,synonymous_variant,p.%3D,ENST00000312123,;GAPVD1,splice_region_variant,,ENST00000474637,;GAPVD1,downstream_gene_variant,,ENST00000467707,;	4486	58	28	SUCCESS
SH2D3C	10044	.	GRCh37	9	130536280	130536280	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	72	0	ENST00000314830.8:c.504G>C	p.Val168=	p.V168=	ENST00000314830	NM_170600.2	168	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6877.1	504	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCACGTC	NONE	.	.	hmmpanther:PTHR14247:SF6,hmmpanther:PTHR14247	.	.	ENSP00000317817	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000314830	Transcript	.	.	ENSG00000095370	16884	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SH2D3_HUMAN	SH2D3C	HGNC	B3KUE2_HUMAN	.	UPI000006EC87	SNV	SH2D3C,synonymous_variant,p.%3D,ENST00000314830,;SH2D3C,upstream_gene_variant,,ENST00000373277,;SH2D3C,non_coding_transcript_exon_variant,,ENST00000471939,;SH2D3C,intron_variant,,ENST00000468969,;	618	72	28	SUCCESS
QRFP	347148	.	GRCh37	9	133768976	133768976	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	33	95	0	ENST00000343079.1:c.250T>A	p.Cys84Ser	p.C84S	ENST00000343079	NM_198180.1	84	Tgc/Agc	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS6936.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCAGCCAG	NONE	.	.	Pfam_domain:PF11109	.	.	ENSP00000345487	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343079	Transcript	.	.	ENSG00000188710	29982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.01)	.	OX26_HUMAN	QRFP	HGNC	.	.	UPI00001D6EB0	SNV	QRFP,missense_variant,p.Cys84Ser,ENST00000343079,;	250	95	37	SUCCESS
TSC1	7248	.	GRCh37	9	135779040	135779040	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	33	73	0	ENST00000298552.3:c.2206A>G	p.Met736Val	p.M736V	ENST00000298552	NM_001162426.1	736	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS6956.1	2206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATGGCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15154	.	.	ENSP00000298552	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	deleterious(0)	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,missense_variant,p.Met736Val,ENST00000298552,;TSC1,missense_variant,p.Met685Val,ENST00000545250,;TSC1,missense_variant,p.Met736Val,ENST00000440111,;	2428	73	40	SUCCESS
RPL7A	6130	.	GRCh37	9	136215815	136215815	+	synonymous_variant	Silent	SNP	G	G	C	rs782403624	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	55	0	ENST00000323345.6:c.42G>C	p.Pro14=	p.P14=	ENST00000323345	NM_000972.2	14	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6965.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23105:SF29,hmmpanther:PTHR23105	.	.	ENSP00000361076	.	2/8	.	.	.	.	.	.	.	.	rs782403624	2/8	PASS	ENST00000323345	Transcript	.	.	ENSG00000148303	10364	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RL7A_HUMAN	RPL7A	HGNC	Q9BY74_HUMAN	.	UPI0000001619	SNV	RPL7A,synonymous_variant,p.%3D,ENST00000426651,;RPL7A,synonymous_variant,p.%3D,ENST00000323345,;RPL7A,5_prime_UTR_variant,,ENST00000315731,;SURF1,downstream_gene_variant,,ENST00000371974,;MED22,upstream_gene_variant,,ENST00000476080,;MED22,upstream_gene_variant,,ENST00000344469,;MED22,upstream_gene_variant,,ENST00000491289,;MED22,upstream_gene_variant,,ENST00000343730,;MED22,upstream_gene_variant,,ENST00000494177,;MED22,upstream_gene_variant,,ENST00000446777,;MED22,upstream_gene_variant,,ENST00000371999,;MED22,upstream_gene_variant,,ENST00000457204,;SNORD36C,upstream_gene_variant,,ENST00000516733,;SNORD24,upstream_gene_variant,,ENST00000383884,;SNORD36A,upstream_gene_variant,,ENST00000362874,;SNORD36B,upstream_gene_variant,,ENST00000363961,;RPL7A,non_coding_transcript_exon_variant,,ENST00000496554,;RPL7A,non_coding_transcript_exon_variant,,ENST00000468019,;RPL7A,non_coding_transcript_exon_variant,,ENST00000485706,;RPL7A,non_coding_transcript_exon_variant,,ENST00000489392,;RPL7A,non_coding_transcript_exon_variant,,ENST00000463740,;SURF1,downstream_gene_variant,,ENST00000495952,;MED22,upstream_gene_variant,,ENST00000471524,;RPL7A,upstream_gene_variant,,ENST00000492798,;SURF1,downstream_gene_variant,,ENST00000437995,;MED22,upstream_gene_variant,,ENST00000482295,;	72	55	23	SUCCESS
C9orf96	0	.	GRCh37	9	136270407	136270407	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	9	23	0	ENST00000371957.3:c.1905T>C	p.Ser635=	p.S635=	ENST00000371957	NM_153710.4	635	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS35169.1	1905	RADIA|MUTECT|MUSE	.	AGTAGTATGAA	NONE	.	.	hmmpanther:PTHR24363:SF3,hmmpanther:PTHR24363,Superfamily_domains:SSF48371	.	.	ENSP00000361025	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000371957	Transcript	.	.	ENSG00000198870	28669	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SGK71_HUMAN	C9orf96	HGNC	.	.	UPI00001D763E	SNV	C9orf96,synonymous_variant,p.%3D,ENST00000371955,;C9orf96,synonymous_variant,p.%3D,ENST00000371957,;REXO4,downstream_gene_variant,,ENST00000371935,;REXO4,downstream_gene_variant,,ENST00000454825,;REXO4,downstream_gene_variant,,ENST00000371942,;	2012	23	11	SUCCESS
TMEM8C	0	.	GRCh37	9	136384125	136384125	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	16	63	0	ENST00000339996.3:c.270A>T	p.Glu90Asp	p.E90D	ENST00000339996	NM_001080483.2	90	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS35170.1	270	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGTTCGTC	NONE	.	.	Pfam_domain:PF12036,hmmpanther:PTHR14319:SF5,hmmpanther:PTHR14319	.	.	ENSP00000419712	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000339996	Transcript	.	.	ENSG00000187616	33778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.969)	.	tolerated(0.19)	.	TMM8C_HUMAN	TMEM8C	HGNC	.	.	UPI00003676C5	SNV	TMEM8C,missense_variant,p.Glu90Asp,ENST00000339996,;TMEM8C,non_coding_transcript_exon_variant,,ENST00000413714,;	372	63	19	SUCCESS
RXRA	6256	.	GRCh37	9	137293489	137293489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	36	89	1	ENST00000481739.1:c.40C>A	p.Gln14Lys	p.Q14K	ENST00000481739	NM_002957.4	14	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS35172.1	40	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCAGGTG	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated_low_confidence(0.24)	.	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Gln14Lys,ENST00000481739,;RXRA,upstream_gene_variant,,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;RXRA,non_coding_transcript_exon_variant,,ENST00000484822,;	92	90	45	SUCCESS
RXRA	6256	.	GRCh37	9	137293490	137293490	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	36	89	0	ENST00000481739.1:c.41A>T	p.Gln14Leu	p.Q14L	ENST00000481739	NM_002957.4	14	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS35172.1	41	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCAGGTGA	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	.	.	ENSP00000419692	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000481739	Transcript	.	.	ENSG00000186350	10477	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.25)	.	RXRA_HUMAN	RXRA	HGNC	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN	.	UPI0000042A9A	SNV	RXRA,missense_variant,p.Gln14Leu,ENST00000481739,;RXRA,upstream_gene_variant,,ENST00000540193,;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;RXRA,non_coding_transcript_exon_variant,,ENST00000484822,;	93	90	45	SUCCESS
KCNT1	57582	.	GRCh37	9	138656968	138656968	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	40	127	0	ENST00000488444.2:c.1070T>A	p.Leu357Gln	p.L357Q	ENST00000488444		357	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS35175.2	1127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCTGTGTG	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	.	.	ENSP00000360822	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,missense_variant,p.Leu337Gln,ENST00000486577,;KCNT1,missense_variant,p.Leu357Gln,ENST00000490355,;KCNT1,missense_variant,p.Leu357Gln,ENST00000263604,;KCNT1,missense_variant,p.Leu343Gln,ENST00000491806,;KCNT1,missense_variant,p.Leu376Gln,ENST00000298480,;KCNT1,missense_variant,p.Leu331Gln,ENST00000487664,;KCNT1,missense_variant,p.Leu376Gln,ENST00000371757,;KCNT1,missense_variant,p.Leu357Gln,ENST00000488444,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	1194	127	55	SUCCESS
KCNT1	57582	.	GRCh37	9	138670532	138670532	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	97	0	ENST00000488444.2:c.2538-2A>C		p.X846_splice	ENST00000488444		846		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35175.2	.	MUTECT|VARSCANS	.	CCACCAGCCTG	NONE	.	.	.	.	.	ENSP00000360822	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371757	Transcript	.	.	ENSG00000107147	18865	.	.	HIGH	22/30	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNT1_HUMAN	KCNT1	HGNC	C9JBV2_HUMAN	.	UPI000192C42B	SNV	KCNT1,splice_acceptor_variant,,ENST00000486577,;KCNT1,splice_acceptor_variant,,ENST00000490355,;KCNT1,splice_acceptor_variant,,ENST00000263604,;KCNT1,splice_acceptor_variant,,ENST00000491806,;KCNT1,splice_acceptor_variant,,ENST00000298480,;KCNT1,splice_acceptor_variant,,ENST00000487664,;KCNT1,splice_acceptor_variant,,ENST00000371757,;KCNT1,splice_acceptor_variant,,ENST00000488444,;KCNT1,splice_acceptor_variant,,ENST00000460750,;KCNT1,splice_acceptor_variant,,ENST00000490363,;	.	97	38	SUCCESS
SLC34A3	142680	.	GRCh37	9	140127698	140127698	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	19	52	0	ENST00000361134.2:c.598T>A	p.Trp200Arg	p.W200R	ENST00000361134	NM_080877.2	200	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS7038.1	598	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACTGGCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF22,Pfam_domain:PF02690,TIGRFAM_domain:TIGR01013	.	.	ENSP00000442397	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000538474	Transcript	.	.	ENSG00000198569	20305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NPT2C_HUMAN	SLC34A3	HGNC	D9N3A0_HUMAN	.	UPI00004577EA	SNV	SLC34A3,missense_variant,p.Trp200Arg,ENST00000361134,;SLC34A3,missense_variant,p.Trp200Arg,ENST00000538474,;RNF224,downstream_gene_variant,,ENST00000445101,;	822	52	22	SUCCESS
EHMT1	79813	.	GRCh37	9	140695341	140695341	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	42	126	0	ENST00000460843.1:c.2617G>T	p.Gly873Cys	p.G873C	ENST00000460843	NM_024757.4	873	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7050.2	2617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGAGGCTGG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF290,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000417980	.	18/27	.	.	.	.	.	.	.	.	.	18/27	PASS	ENST00000460843	Transcript	.	.	ENSG00000181090	24650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EHMT1_HUMAN	EHMT1	HGNC	Q71M33_HUMAN,A0PJE0_HUMAN	.	UPI000194EC2D	SNV	EHMT1,missense_variant,p.Gly873Cys,ENST00000460843,;EHMT1,non_coding_transcript_exon_variant,,ENST00000488242,;EHMT1,non_coding_transcript_exon_variant,,ENST00000482340,;EHMT1,non_coding_transcript_exon_variant,,ENST00000486164,;EHMT1,non_coding_transcript_exon_variant,,ENST00000493484,;EHMT1,missense_variant,p.Gly492Cys,ENST00000462942,;	2644	126	55	SUCCESS
CER1	9350	.	GRCh37	9	14722169	14722169	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	69	0	ENST00000380911.3:c.502A>T	p.Ser168Cys	p.S168C	ENST00000380911	NM_005454.2	168	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS6476.1	502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTGAAGG	NONE	.	.	PROSITE_profiles:PS01225,hmmpanther:PTHR15273,hmmpanther:PTHR15273:SF3,Pfam_domain:PF03045,SMART_domains:SM00041,PIRSF_domain:PIRSF027807	.	.	ENSP00000370297	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000380911	Transcript	.	.	ENSG00000147869	1862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	CER1_HUMAN	CER1	HGNC	.	.	UPI0000051056	SNV	CER1,missense_variant,p.Ser168Cys,ENST00000380911,;	547	69	62	SUCCESS
FREM1	158326	.	GRCh37	9	14808126	14808126	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	77	97	0	ENST00000380880.3:c.2900A>G	p.Glu967Gly	p.E967G	ENST00000380880		967	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS47952.1	2900	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTCGCCA	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24	.	.	ENSP00000412940	.	18/38	.	.	.	.	.	.	.	.	.	18/38	PASS	ENST00000422223	Transcript	.	.	ENSG00000164946	23399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	FREM1_HUMAN	FREM1	HGNC	.	.	UPI000057A218	SNV	FREM1,missense_variant,p.Glu968Gly,ENST00000380881,;FREM1,missense_variant,p.Glu967Gly,ENST00000380880,;FREM1,missense_variant,p.Glu967Gly,ENST00000422223,;FREM1,missense_variant,p.Glu967Gly,ENST00000380875,;	3716	97	104	SUCCESS
SNAPC3	6619	.	GRCh37	9	15447091	15447091	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	54	116	0	ENST00000380821.3:c.583-2A>T		p.X195_splice	ENST00000380821	NM_001039697.1	195		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6478.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTAGCACA	NONE	.	.	.	.	.	ENSP00000370200	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380821	Transcript	.	.	ENSG00000164975	11136	.	.	HIGH	4/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNPC3_HUMAN	SNAPC3	HGNC	Q5T284_HUMAN	.	UPI0000135B24	SNV	SNAPC3,splice_acceptor_variant,,ENST00000380821,;SNAPC3,intron_variant,,ENST00000421710,;SNAPC3,upstream_gene_variant,,ENST00000380799,;SNAPC3,splice_acceptor_variant,,ENST00000467062,;SNAPC3,splice_acceptor_variant,,ENST00000490969,;	.	116	123	SUCCESS
BNC2	54796	.	GRCh37	9	16437127	16437127	+	synonymous_variant	Silent	SNP	G	G	T	rs183551262	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	103	0	ENST00000380672.4:c.1065C>A	p.Pro355=	p.P355=	ENST00000380672	NM_017637.5	355	ccC/ccA	0	.	A:0	.	A:0.0014	.	T	P	protein_coding	YES	CCDS6482.2	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGGGTTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2	A:0	.	ENSP00000370047	A:0	6/7	.	.	.	.	.	.	.	.	rs183551262	6/7	PASS	ENST00000380672	Transcript	.	A:0.0002	ENSG00000173068	30988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	BNC2_HUMAN	BNC2	HGNC	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN	.	UPI000035E7B0	SNV	BNC2,synonymous_variant,p.%3D,ENST00000545497,;BNC2,synonymous_variant,p.%3D,ENST00000380667,;BNC2,synonymous_variant,p.%3D,ENST00000380672,;BNC2,synonymous_variant,p.%3D,ENST00000380666,;BNC2,synonymous_variant,p.%3D,ENST00000418777,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,upstream_gene_variant,,ENST00000411752,;BNC2,synonymous_variant,p.%3D,ENST00000484726,;	1123	103	101	SUCCESS
SH3GL2	6456	.	GRCh37	9	17793437	17793437	+	synonymous_variant	Silent	SNP	T	T	A	rs768810695	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	56	130	0	ENST00000380607.4:c.801T>A	p.Thr267=	p.T267=	ENST00000380607	NM_003026.2	267	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS6483.1	801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTGGAGA	NONE	byFrequency	.	hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661	.	.	ENSP00000369981	.	8/9	.	.	.	.	.	.	.	.	rs768810695	8/9	PASS	ENST00000380607	Transcript	.	.	ENSG00000107295	10831	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3G2_HUMAN	SH3GL2	HGNC	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN	.	UPI0000135933	SNV	SH3GL2,synonymous_variant,p.%3D,ENST00000380607,;SH3GL2,synonymous_variant,p.%3D,ENST00000537391,;	921	130	111	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18892464	18892464	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	57	0	ENST00000380548.4:c.4721A>G	p.Lys1574Arg	p.K1574R	ENST00000380548	NM_001040272.5	1574	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS47954.1	4721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAAGCTGA	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000369921	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.76)	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	SNV	ADAMTSL1,missense_variant,p.Lys275Arg,ENST00000380545,;ADAMTSL1,missense_variant,p.Lys1574Arg,ENST00000380548,;ADAMTSL1,downstream_gene_variant,,ENST00000380538,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;ADAMTSL1,intron_variant,,ENST00000388710,;ADAMTSL1,intron_variant,,ENST00000542621,;	5060	57	58	SUCCESS
MLLT3	4300	.	GRCh37	9	20413886	20413886	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs761995053	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	45	119	0	ENST00000380338.4:c.958T>A	p.Cys320Ser	p.C320S	ENST00000380338	NM_004529.2	320	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS6494.1	958	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACAAGTGA	NONE	.	.	hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF25	.	.	ENSP00000369695	.	5/11	.	.	.	.	.	.	.	.	rs761995053	5/11	PASS	ENST00000380338	Transcript	.	.	ENSG00000171843	7136	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.82)	.	AF9_HUMAN	MLLT3	HGNC	Q6LEQ8_HUMAN,B1APT5_HUMAN	.	UPI00002111CB	SNV	MLLT3,missense_variant,p.Cys317Ser,ENST00000429426,;MLLT3,missense_variant,p.Cys320Ser,ENST00000380338,;MLLT3,5_prime_UTR_variant,,ENST00000355930,;MIR4473,upstream_gene_variant,,ENST00000583731,;RNU4-26P,upstream_gene_variant,,ENST00000410270,;MLLT3,non_coding_transcript_exon_variant,,ENST00000475957,;MLLT3,upstream_gene_variant,,ENST00000468513,;	1245	119	98	SUCCESS
IFNB1	3456	.	GRCh37	9	21077590	21077590	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	58	0	ENST00000380232.2:c.279A>C	p.Gln93His	p.Q93H	ENST00000380232	NM_002176.2	93	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS6495.1	279	RADIA|MUTECT|MUSE|VARSCANS	.	GAATCTTGTCT	NONE	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF7	.	.	ENSP00000369581	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380232	Transcript	.	.	ENSG00000171855	5434	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	deleterious(0.01)	.	IFNB_HUMAN	IFNB1	HGNC	Q5VWC9_HUMAN,B5BUQ5_HUMAN	.	UPI000004775D	SNV	IFNB1,missense_variant,p.Gln93His,ENST00000380232,;	354	59	68	SUCCESS
IFNB1	3456	.	GRCh37	9	21077934	21077934	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	13	0	ENST00000380232.2:c.-66C>A		p.*22*	ENST00000380232	NM_002176.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6495.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCAGTTAGA	NONE	.	.	.	.	.	ENSP00000369581	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380232	Transcript	.	.	ENSG00000171855	5434	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFNB_HUMAN	IFNB1	HGNC	Q5VWC9_HUMAN,B5BUQ5_HUMAN	.	UPI000004775D	SNV	IFNB1,5_prime_UTR_variant,,ENST00000380232,;	10	13	15	SUCCESS
IFNA16	3449	.	GRCh37	9	21217242	21217242	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	59	180	0	ENST00000380216.1:c.63T>C	p.Ser21=	p.S21=	ENST00000380216	NM_002173.2	21	tcT/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS34996.1	63	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAGAACA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29	.	.	ENSP00000369564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380216	Transcript	.	.	ENSG00000147885	5421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFN16_HUMAN	IFNA16	HGNC	Q9UMJ2_HUMAN	.	UPI0000047763	SNV	IFNA16,synonymous_variant,p.%3D,ENST00000380216,;	69	180	213	SUCCESS
IFNA5	3442	.	GRCh37	9	21305011	21305011	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	62	91	0	ENST00000259555.4:c.245A>C	p.Glu82Ala	p.E82A	ENST00000259555	NM_002169.2	82	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS6502.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCTCATGG	NONE	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691:SF33,hmmpanther:PTHR11691	.	.	ENSP00000259555	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259555	Transcript	.	.	ENSG00000147873	5426	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.947)	.	deleterious(0)	.	IFNA5_HUMAN	IFNA5	HGNC	.	.	UPI0000047760	SNV	IFNA5,missense_variant,p.Glu82Ala,ENST00000259555,;	302	91	92	SUCCESS
IFNA8	3445	.	GRCh37	9	21409216	21409216	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	30	46	0	ENST00000380205.1:c.41T>A	p.Leu14His	p.L14H	ENST00000380205	NM_002170.3	14	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS6507.1	41	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTCAGCT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF28	.	.	ENSP00000369553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380205	Transcript	.	.	ENSG00000120242	5429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious(0.01)	.	IFNA8_HUMAN	IFNA8	HGNC	.	.	UPI000002C35B	SNV	IFNA8,missense_variant,p.Leu14His,ENST00000380205,;	71	46	63	SUCCESS
UBAP2	55833	.	GRCh37	9	33953474	33953474	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	43	98	0	ENST00000360802.1:c.867-2A>G		p.X289_splice	ENST00000360802	NM_018449.2	289		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6547.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCTAAGCA	NONE	.	.	.	.	.	ENSP00000368540	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	HIGH	11/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,splice_acceptor_variant,,ENST00000379238,;UBAP2,splice_acceptor_variant,,ENST00000379239,;UBAP2,splice_acceptor_variant,,ENST00000418786,;UBAP2,splice_acceptor_variant,,ENST00000421278,;UBAP2,splice_acceptor_variant,,ENST00000449054,;UBAP2,splice_acceptor_variant,,ENST00000412543,;UBAP2,splice_acceptor_variant,,ENST00000539807,;UBAP2,splice_acceptor_variant,,ENST00000360802,;UBAP2,upstream_gene_variant,,ENST00000379225,;SNORD121A,upstream_gene_variant,,ENST00000459386,;UBAP2,splice_acceptor_variant,,ENST00000462799,;	.	98	84	SUCCESS
FAM205A	259308	.	GRCh37	9	34723610	34723610	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	28	0	ENST00000378788.3:c.3627T>G	p.Ser1209=	p.S1209=	ENST00000378788	NM_001141917.1	1209	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS55305.1	3627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTAGACTC	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4	.	.	ENSP00000417711	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378788	Transcript	.	.	ENSG00000205108	41911	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F205A_HUMAN	FAM205A	HGNC	.	.	UPI00017EE92B	SNV	FAM205A,synonymous_variant,p.%3D,ENST00000378788,;	3667	28	32	SUCCESS
CA9	768	.	GRCh37	9	35674105	35674105	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	35	53	0	ENST00000378357.4:c.149G>T	p.Gly50Val	p.G50V	ENST00000378357	NM_001216.2	50	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6585.1	149	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18	.	.	ENSP00000367608	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000378357	Transcript	.	.	ENSG00000107159	1383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	CAH9_HUMAN	CA9	HGNC	.	.	UPI000013E02C	SNV	CA9,missense_variant,p.Gly50Val,ENST00000378357,;ARHGEF39,upstream_gene_variant,,ENST00000378395,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000493245,;ARHGEF39,5_prime_UTR_variant,,ENST00000490638,;	253	53	69	SUCCESS
TPM2	7169	.	GRCh37	9	35684745	35684745	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	113	1	ENST00000360958.2:c.623A>G	p.Glu208Gly	p.E208G	ENST00000360958	NM_003289.3	208	gAg/gGg	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6586.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTCCAGG	NONE	.	.	.	.	.	ENSP00000367542	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378292	Transcript	.	.	ENSG00000198467	12011	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPM2_HUMAN	TPM2	HGNC	.	.	UPI000002B5B5	SNV	TPM2,missense_variant,p.Glu208Gly,ENST00000360958,;TPM2,missense_variant,p.Glu208Gly,ENST00000378300,;TPM2,missense_variant,p.Glu208Gly,ENST00000329305,;TPM2,missense_variant,p.Glu55Gly,ENST00000607559,;TPM2,intron_variant,,ENST00000378292,;CA9,downstream_gene_variant,,ENST00000378357,;CA9,downstream_gene_variant,,ENST00000493245,;CA9,downstream_gene_variant,,ENST00000485665,;TPM2,non_coding_transcript_exon_variant,,ENST00000471212,;TPM2,downstream_gene_variant,,ENST00000486018,;TPM2,downstream_gene_variant,,ENST00000604975,;	.	114	94	SUCCESS
TLN1	7094	.	GRCh37	9	35724956	35724956	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	79	0	ENST00000314888.9:c.229G>T	p.Asp77Tyr	p.D77Y	ENST00000314888	NM_006289.3	77	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS35009.1	229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCCTGTT	NONE	.	.	hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981	.	.	ENSP00000316029	.	4/57	.	.	.	.	.	.	.	.	.	4/57	PASS	ENST00000314888	Transcript	.	.	ENSG00000137076	11845	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TLN1_HUMAN	TLN1	HGNC	.	.	UPI0000211375	SNV	TLN1,missense_variant,p.Asp77Tyr,ENST00000314888,;TLN1,missense_variant,p.Asp77Tyr,ENST00000540444,;TLN1,splice_region_variant,,ENST00000378192,;	583	79	58	SUCCESS
RGP1	9827	.	GRCh37	9	35752015	35752015	+	synonymous_variant	Silent	SNP	A	A	G	rs1045933261	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	32	102	0	ENST00000378078.4:c.825A>G	p.Ala275=	p.A275=	ENST00000378078	NM_001080496.2	275	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS47964.2	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGGGGG	NONE	.	.	hmmpanther:PTHR12507:SF3,hmmpanther:PTHR12507,Pfam_domain:PF08737	.	.	ENSP00000367318	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000378078	Transcript	.	.	ENSG00000107185	21965	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGP1_HUMAN	RGP1	HGNC	.	.	UPI0000139519	SNV	RGP1,synonymous_variant,p.%3D,ENST00000456972,;RGP1,synonymous_variant,p.%3D,ENST00000378078,;MSMP,downstream_gene_variant,,ENST00000436428,;GBA2,upstream_gene_variant,,ENST00000378094,;GBA2,upstream_gene_variant,,ENST00000378103,;GBA2,upstream_gene_variant,,ENST00000545786,;RP11-112J3.15,downstream_gene_variant,,ENST00000425499,;GBA2,upstream_gene_variant,,ENST00000489025,;MSMP,downstream_gene_variant,,ENST00000414286,;RGP1,non_coding_transcript_exon_variant,,ENST00000496906,;	966	102	84	SUCCESS
OR2S2	56656	.	GRCh37	9	35957519	35957519	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	42	80	0	ENST00000341959.2:c.577A>G	p.Ile193Val	p.I193V	ENST00000341959	NM_019897.2	193	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6596.2	577	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAATGTCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000344040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341959	Transcript	.	.	ENSG00000122718	8276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	deleterious(0.03)	.	OR2S1_HUMAN	OR2S2	HGNC	.	.	UPI000003FF74	SNV	OR2S2,missense_variant,p.Ile193Val,ENST00000341959,;	633	80	73	SUCCESS
RECK	8434	.	GRCh37	9	36122893	36122893	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	47	134	1	ENST00000377966.3:c.2767C>T	p.His923Tyr	p.H923Y	ENST00000377966	NM_021111.2	923	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS6597.1	2767	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCCATGTC	NONE	.	.	hmmpanther:PTHR13487	.	.	ENSP00000367202	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000377966	Transcript	.	.	ENSG00000122707	11345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.454)	.	deleterious(0.01)	.	RECK_HUMAN	RECK	HGNC	.	.	UPI0000133587	SNV	RECK,missense_variant,p.His923Tyr,ENST00000377966,;	3333	135	122	SUCCESS
CNTNAP3	79937	.	GRCh37	9	39171588	39171588	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	80	175	0	ENST00000297668.6:c.1111C>A	p.Pro371Thr	p.P371T	ENST00000297668	NM_033655.3	371	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS6616.1	1111	RADIA|SOMATICSNIPER|VARSCANS	.	CACAGGGACAG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000297668	.	8/24	.	.	.	.	.	.	.	.	.	8/24	PASS	ENST00000297668	Transcript	.	.	ENSG00000106714	13834	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CNTP3_HUMAN	CNTNAP3	HGNC	.	.	UPI000013E43B	SNV	CNTNAP3,missense_variant,p.Pro371Thr,ENST00000377656,;CNTNAP3,missense_variant,p.Pro371Thr,ENST00000377659,;CNTNAP3,missense_variant,p.Pro283Thr,ENST00000358144,;CNTNAP3,missense_variant,p.Pro371Thr,ENST00000297668,;CNTNAP3,missense_variant,p.Pro371Thr,ENST00000323947,;CNTNAP3,downstream_gene_variant,,ENST00000377653,;CNTNAP3,missense_variant,p.Pro371Thr,ENST00000443583,;RP11-290L7.3,downstream_gene_variant,,ENST00000425044,;	1185	176	170	SUCCESS
FAM74A3	728495	.	GRCh37	9	40716160	40716160	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs771994104	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	393	118	457	0	ENST00000604146.1:n.499G>A		p.*167*	ENST00000604146				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGAGAGA	NONE	byFrequency	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	rs771994104	1/2	PASS	ENST00000604146	Transcript	.	.	ENSG00000204844	32031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM74A3	HGNC	.	.	.	SNV	FAM74A3,non_coding_transcript_exon_variant,,ENST00000355345,;FAM74A3,non_coding_transcript_exon_variant,,ENST00000604146,;RP11-395E19.5,upstream_gene_variant,,ENST00000432614,;RP11-395E19.2,upstream_gene_variant,,ENST00000433824,;	499	458	512	SUCCESS
RLN2	6019	.	GRCh37	9	5300131	5300131	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	70	0	ENST00000381627.3:c.525T>A	p.Gly175=	p.G175=	ENST00000381627	NM_134441.2	175	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS6460.1	525	RADIA|VARSCANS	.	GTACAACCAAC	NONE	.	.	Prints_domain:PR00276,Prints_domain:PR02004,Superfamily_domains:SSF56994,SMART_domains:SM00078,Pfam_domain:PF00049,Gene3D:1.10.100.10,PROSITE_patterns:PS00262,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF5	.	.	ENSP00000371040	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381627	Transcript	.	.	ENSG00000107014	10027	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REL2_HUMAN	RLN2	HGNC	.	.	UPI000002C1A0	SNV	RLN2,synonymous_variant,p.%3D,ENST00000381627,;RLN2,3_prime_UTR_variant,,ENST00000416837,;RLN2,3_prime_UTR_variant,,ENST00000308420,;	914	70	34	SUCCESS
RANBP6	26953	.	GRCh37	9	6012662	6012662	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	159	0	ENST00000259569.5:c.2946A>T	p.Ser982=	p.S982=	ENST00000259569	NM_012416.3	982	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS6467.1	2946	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCTGAGAT	BUFFER|p.I984L|c.2950A>C|8	.	.	Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527	.	.	ENSP00000259569	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000259569	Transcript	.	.	ENSG00000137040	9851	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RNBP6_HUMAN	RANBP6	HGNC	B4E340_HUMAN	.	UPI000013D061	SNV	RANBP6,synonymous_variant,p.%3D,ENST00000259569,;KIAA2026,upstream_gene_variant,,ENST00000513355,;KIAA2026,upstream_gene_variant,,ENST00000381461,;KIAA2026,upstream_gene_variant,,ENST00000399933,;MIR4665,downstream_gene_variant,,ENST00000581132,;RANBP6,downstream_gene_variant,,ENST00000485372,;	2957	159	70	SUCCESS
KDM4C	23081	.	GRCh37	9	7046860	7046860	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	26	84	0	ENST00000381309.3:c.2260-2A>T		p.X754_splice	ENST00000381309	NM_015061.3	754		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6471.1	.	RADIA|MUTECT|MUSE	.	CCCCCAGGAAT	NONE	.	.	.	.	.	ENSP00000370710	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	HIGH	15/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,splice_acceptor_variant,,ENST00000381306,;KDM4C,splice_acceptor_variant,,ENST00000381309,;KDM4C,splice_acceptor_variant,,ENST00000535193,;KDM4C,splice_acceptor_variant,,ENST00000543771,;KDM4C,splice_acceptor_variant,,ENST00000536108,;KDM4C,splice_acceptor_variant,,ENST00000428870,;KDM4C,splice_acceptor_variant,,ENST00000420847,;KDM4C,splice_acceptor_variant,,ENST00000442236,;KDM4C,upstream_gene_variant,,ENST00000495890,;	.	84	28	SUCCESS
TMEM252	169693	.	GRCh37	9	71155621	71155621	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs372500287	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	52	103	0	ENST00000377311.3:c.110A>T	p.Gln37Leu	p.Q37L	ENST00000377311	NM_153237.1	37	cAg/cTg	0	C:0	.	.	.	.	A	Q/L	protein_coding	YES	CCDS35040.1	110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGACAG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000366528	.	1/2	.	.	.	.	.	.	.	.	rs372500287	1/2	PASS	ENST00000377311	Transcript	.	.	ENSG00000181778	28537	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.16)	.	TM252_HUMAN	TMEM252	HGNC	.	.	UPI000006D6CF	SNV	TMEM252,missense_variant,p.Gln37Leu,ENST00000377311,;RP11-274B18.2,downstream_gene_variant,,ENST00000446290,;RP11-274B18.4,upstream_gene_variant,,ENST00000413269,;RP11-274B18.2,downstream_gene_variant,,ENST00000432148,;	163	104	155	SUCCESS
TRPM6	140803	.	GRCh37	9	77418778	77418778	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	66	0	ENST00000360774.1:c.1663A>G	p.Arg555Gly	p.R555G	ENST00000360774	NM_017662.4	555	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS6647.1	1663	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCTATTTC	NONE	.	.	hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	.	.	ENSP00000354006	.	15/39	.	.	.	.	.	.	.	.	.	15/39	PASS	ENST00000360774	Transcript	.	.	ENSG00000119121	17995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	deleterious(0.03)	.	TRPM6_HUMAN	TRPM6	HGNC	.	.	UPI000006E041	SNV	TRPM6,missense_variant,p.Arg550Gly,ENST00000449912,;TRPM6,missense_variant,p.Arg555Gly,ENST00000451710,;TRPM6,missense_variant,p.Arg550Gly,ENST00000361255,;TRPM6,missense_variant,p.Arg555Gly,ENST00000360774,;TRPM6,missense_variant,p.Arg555Gly,ENST00000376864,;TRPM6,intron_variant,,ENST00000376871,;TRPM6,intron_variant,,ENST00000376872,;RN7SKP47,downstream_gene_variant,,ENST00000365347,;RP11-174B4.2,upstream_gene_variant,,ENST00000605848,;	1901	66	90	SUCCESS
PCSK5	5125	.	GRCh37	9	78973635	78973635	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	50	153	1	ENST00000545128.1:c.5380A>T	p.Ser1794Cys	p.S1794C	ENST00000545128	NM_001190482.1	1794	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS55320.1	5380	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGAGCAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000446280	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000545128	Transcript	.	.	ENSG00000099139	8747	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.789)	.	deleterious(0.02)	.	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,missense_variant,p.Ser1494Cys,ENST00000424854,;PCSK5,missense_variant,p.Ser1794Cys,ENST00000545128,;	5918	154	171	SUCCESS
PRUNE2	158471	.	GRCh37	9	79324425	79324425	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	38	132	0	ENST00000376718.3:c.2765T>C	p.Phe922Ser	p.F922S	ENST00000376718	NM_015225.2	922	tTt/tCt	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS47982.1	2765	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAAAAAGG	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0.03)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Phe244Ser,ENST00000426088,;PRUNE2,missense_variant,p.Phe922Ser,ENST00000376718,;PRUNE2,missense_variant,p.Phe563Ser,ENST00000428286,;	2889	132	161	SUCCESS
PTPRD	5789	.	GRCh37	9	8486105	8486105	+	synonymous_variant	Silent	SNP	C	C	T	rs1407741817	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	53	102	0	ENST00000356435.5:c.2712G>A	p.Gly904=	p.G904=	ENST00000356435		904	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS43786.1	2712	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCCCAAA	NONE	.	.	Prints_domain:PR00014,Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,PROSITE_profiles:PS50853	.	.	ENSP00000370593	.	25/43	.	.	.	.	.	.	.	.	.	25/43	PASS	ENST00000381196	Transcript	.	.	ENSG00000153707	9668	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRD_HUMAN	PTPRD	HGNC	C9J6E4_HUMAN,B4DK48_HUMAN	.	UPI0000132990	SNV	PTPRD,synonymous_variant,p.%3D,ENST00000358503,;PTPRD,synonymous_variant,p.%3D,ENST00000360074,;PTPRD,synonymous_variant,p.%3D,ENST00000381196,;PTPRD,synonymous_variant,p.%3D,ENST00000356435,;PTPRD,synonymous_variant,p.%3D,ENST00000540109,;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000486161,;PTPRD,intron_variant,,ENST00000397606,;PTPRD,intron_variant,,ENST00000355233,;PTPRD,intron_variant,,ENST00000397611,;PTPRD,intron_variant,,ENST00000537002,;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;PTPRD,upstream_gene_variant,,ENST00000477552,;	3256	102	107	SUCCESS
KIF27	55582	.	GRCh37	9	86495242	86495242	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	63	0	ENST00000297814.2:c.2613A>T	p.Ala871=	p.A871=	ENST00000297814	NM_017576.2	871	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6665.1	2613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACTGCATC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115	.	.	ENSP00000297814	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,synonymous_variant,p.%3D,ENST00000376347,;KIF27,synonymous_variant,p.%3D,ENST00000334204,;KIF27,synonymous_variant,p.%3D,ENST00000297814,;KIF27,intron_variant,,ENST00000413982,;	2757	63	57	SUCCESS
NTRK2	4915	.	GRCh37	9	87325598	87325598	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	145	112	0	ENST00000277120.3:c.475A>T	p.Ile159Phe	p.I159F	ENST00000277120		159	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS6671.1	475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGATCAAG	NONE	.	.	hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	.	.	ENSP00000365387	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.387)	.	deleterious(0)	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,missense_variant,p.Ile159Phe,ENST00000323115,;NTRK2,missense_variant,p.Ile3Phe,ENST00000395866,;NTRK2,missense_variant,p.Ile159Phe,ENST00000395882,;NTRK2,missense_variant,p.Ile159Phe,ENST00000376213,;NTRK2,missense_variant,p.Ile159Phe,ENST00000376208,;NTRK2,missense_variant,p.Ile159Phe,ENST00000277120,;NTRK2,missense_variant,p.Ile159Phe,ENST00000376214,;NTRK2,missense_variant,p.Ile159Phe,ENST00000359847,;NTRK2,missense_variant,p.Ile159Phe,ENST00000304053,;	1413	112	159	SUCCESS
C9orf153	389766	.	GRCh37	9	88842778	88842778	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	39	89	0	ENST00000376001.3:c.234T>A	p.Pro78=	p.P78=	ENST00000376001		78	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	.	234	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACAGGTTG	NONE	.	.	.	.	.	ENSP00000365169	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000376001	Transcript	.	.	ENSG00000187753	31456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI153_HUMAN	C9orf153	HGNC	.	.	UPI0000417613	SNV	C9orf153,synonymous_variant,p.%3D,ENST00000339137,;C9orf153,synonymous_variant,p.%3D,ENST00000376001,;C9orf153,intron_variant,,ENST00000469914,;RP11-507D14.4,upstream_gene_variant,,ENST00000604767,;	315	89	93	SUCCESS
ZCCHC6	0	.	GRCh37	9	88952146	88952146	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	38	0	ENST00000375963.3:c.1455+188A>T		p.*485*	ENST00000375963	NM_001185059.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35057.1	.	MUTECT|VARSCANS	.	GGTTATAGGGC	NONE	.	.	.	.	.	ENSP00000365130	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375963	Transcript	.	.	ENSG00000083223	25817	.	.	MODIFIER	10/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TUT7_HUMAN	ZCCHC6	HGNC	.	.	UPI00004588F6	SNV	ZCCHC6,3_prime_UTR_variant,,ENST00000375948,;ZCCHC6,intron_variant,,ENST00000375961,;ZCCHC6,intron_variant,,ENST00000277141,;ZCCHC6,intron_variant,,ENST00000375960,;ZCCHC6,intron_variant,,ENST00000375963,;	.	38	47	SUCCESS
SPATA31E1	286234	.	GRCh37	9	90501957	90501957	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	75	0	ENST00000325643.5:c.2555T>C	p.Leu852Pro	p.L852P	ENST00000325643	NM_178828.4	852	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS6676.1	2555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTCCAGT	NONE	.	.	hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF11	.	.	ENSP00000322640	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000325643	Transcript	.	.	ENSG00000177992	26672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0)	.	S31E1_HUMAN	SPATA31E1	HGNC	.	.	UPI000036764A	SNV	SPATA31E1,missense_variant,p.Leu852Pro,ENST00000325643,;	2621	75	56	SUCCESS
SEMA4D	10507	.	GRCh37	9	92002518	92002518	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs549309784	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	89	0	ENST00000356444.2:c.1113C>G	p.Ile371Met	p.I371M	ENST00000356444		371	atC/atG	0	.	T:0	.	T:0	.	C	I/M	protein_coding	YES	CCDS6685.1	1113	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCGATGCA	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036:SF18,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	T:0	.	ENSP00000416523	T:0	12/16	.	.	.	.	.	.	.	.	rs549309784,COSM1644981	12/16	PASS	ENST00000450295	Transcript	.	T:0.0004	ENSG00000187764	10732	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.998)	T:0.002	deleterious(0.03)	0,1	SEM4D_HUMAN	SEMA4D	HGNC	F5H044_HUMAN,C9JYS7_HUMAN,C9JFP1_HUMAN,C9JD54_HUMAN	.	UPI0000135A6C	SNV	SEMA4D,missense_variant,p.Ile371Met,ENST00000343780,;SEMA4D,missense_variant,p.Ile371Met,ENST00000450295,;SEMA4D,missense_variant,p.Ile371Met,ENST00000422704,;SEMA4D,missense_variant,p.Ile371Met,ENST00000420987,;SEMA4D,missense_variant,p.Ile371Met,ENST00000438547,;SEMA4D,missense_variant,p.Ile371Met,ENST00000339861,;SEMA4D,missense_variant,p.Ile371Met,ENST00000455551,;SEMA4D,missense_variant,p.Ile371Met,ENST00000356444,;SEMA4D,missense_variant,p.Ile371Met,ENST00000537934,;SEMA4D,missense_variant,p.Ile371Met,ENST00000429836,;SEMA4D,non_coding_transcript_exon_variant,,ENST00000474258,;SEMA4D,upstream_gene_variant,,ENST00000544513,;	1890	89	78	SUCCESS
ROR2	4920	.	GRCh37	9	94488970	94488970	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	67	0	ENST00000375708.3:c.1239A>T	p.Ala413=	p.A413=	ENST00000375708	NM_004560.3	413	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6691.1	1239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATTGCGAT	NONE	.	.	Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF000624,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416	.	.	ENSP00000364860	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000375708	Transcript	.	.	ENSG00000169071	10257	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROR2_HUMAN	ROR2	HGNC	.	.	UPI000013E8CA	SNV	ROR2,synonymous_variant,p.%3D,ENST00000375715,;ROR2,synonymous_variant,p.%3D,ENST00000375708,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	1438	67	53	SUCCESS
ZNF484	83744	.	GRCh37	9	95618117	95618117	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	90	0	ENST00000375495.3:c.211G>C	p.Glu71Gln	p.E71Q	ENST00000375495	NM_031486.2	71	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS59136.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTCACCAT	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF144,hmmpanther:PTHR24377	.	.	ENSP00000378882	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395506	Transcript	.	.	ENSG00000127081	23385	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated(0.24)	.	ZN484_HUMAN	ZNF484	HGNC	.	.	UPI00017A7C2E	SNV	ZNF484,missense_variant,p.Glu73Gln,ENST00000395506,;ZNF484,missense_variant,p.Glu35Gln,ENST00000395505,;ZNF484,missense_variant,p.Glu35Gln,ENST00000332591,;ZNF484,missense_variant,p.Glu71Gln,ENST00000375495,;ANKRD19P,intron_variant,,ENST00000473204,;	313	90	75	SUCCESS
WNK2	65268	.	GRCh37	9	96021605	96021605	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	44	122	0	ENST00000297954.4:c.2775T>A	p.Pro925=	p.P925=	ENST00000297954	NM_001282394.1	925	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	.	2775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTCCTTC	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	11/30	.	.	.	.	.	.	.	.	.	11/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,synonymous_variant,p.%3D,ENST00000432730,;WNK2,synonymous_variant,p.%3D,ENST00000427277,;WNK2,synonymous_variant,p.%3D,ENST00000349097,;WNK2,synonymous_variant,p.%3D,ENST00000411624,;WNK2,synonymous_variant,p.%3D,ENST00000297954,;WNK2,synonymous_variant,p.%3D,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,upstream_gene_variant,,ENST00000448251,;WNK2,downstream_gene_variant,,ENST00000448039,;WNK2,downstream_gene_variant,,ENST00000464625,;WNK2,upstream_gene_variant,,ENST00000478583,;	2775	123	105	SUCCESS
WNK2	65268	.	GRCh37	9	96051121	96051121	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	53	185	0	ENST00000297954.4:c.4196T>A	p.Leu1399Gln	p.L1399Q	ENST00000297954	NM_001282394.1	1399	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	.	4196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCTAGCCA	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	.	.	ENSP00000297954	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,missense_variant,p.Leu1358Gln,ENST00000432730,;WNK2,missense_variant,p.Leu974Gln,ENST00000427277,;WNK2,missense_variant,p.Leu1011Gln,ENST00000349097,;WNK2,missense_variant,p.Leu966Gln,ENST00000411624,;WNK2,missense_variant,p.Leu1399Gln,ENST00000297954,;WNK2,missense_variant,p.Leu159Gln,ENST00000448251,;WNK2,missense_variant,p.Leu1362Gln,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,upstream_gene_variant,,ENST00000453718,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	4196	185	143	SUCCESS
C9orf3	0	.	GRCh37	9	97522798	97522798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	50	0	ENST00000375315.2:c.733A>T	p.Arg245Trp	p.R245W	ENST00000375315	NM_001193329.1	245	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS55328.1	733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCAGGATA	NONE	.	.	Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF151,hmmpanther:PTHR11533	.	.	ENSP00000364464	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000375315	Transcript	.	.	ENSG00000148120	1361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AMPO_HUMAN	C9orf3	HGNC	B4DKZ8_HUMAN	.	UPI0000211ACC	SNV	C9orf3,missense_variant,p.Arg68Trp,ENST00000424143,;C9orf3,missense_variant,p.Arg119Trp,ENST00000427193,;C9orf3,missense_variant,p.Arg245Trp,ENST00000297979,;C9orf3,missense_variant,p.Arg27Trp,ENST00000428313,;C9orf3,missense_variant,p.Arg245Trp,ENST00000277198,;C9orf3,missense_variant,p.Arg245Trp,ENST00000375315,;C9orf3,non_coding_transcript_exon_variant,,ENST00000489318,;	733	50	56	SUCCESS
HABP4	22927	.	GRCh37	9	99250387	99250387	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs949638321	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	69	0	ENST00000375249.4:c.1016A>G	p.Tyr339Cys	p.Y339C	ENST00000375249	NM_014282.2	339	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS6719.1	1016	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTATGAGG	NONE	.	.	hmmpanther:PTHR12299,hmmpanther:PTHR12299:SF7	.	.	ENSP00000364398	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000375249	Transcript	.	.	ENSG00000130956	17062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.16)	.	HABP4_HUMAN	HABP4	HGNC	B3KNW5_HUMAN	.	UPI000013E8DB	SNV	HABP4,missense_variant,p.Tyr234Cys,ENST00000375251,;HABP4,missense_variant,p.Tyr339Cys,ENST00000375249,;HABP4,non_coding_transcript_exon_variant,,ENST00000466976,;CDC14B,downstream_gene_variant,,ENST00000474602,;	1091	69	57	SUCCESS
CDC14B	8555	.	GRCh37	9	99286009	99286009	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	126	179	0	ENST00000375241.1:c.947-2A>G		p.X316_splice	ENST00000375241	NM_003671.3	316		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6722.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCTAGGAA	NONE	.	.	.	.	.	ENSP00000364389	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375241	Transcript	.	.	ENSG00000081377	1719	.	.	HIGH	9/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC14B_HUMAN	CDC14B	HGNC	.	.	UPI0000072924	SNV	CDC14B,splice_acceptor_variant,,ENST00000375242,;CDC14B,splice_acceptor_variant,,ENST00000265659,;CDC14B,splice_acceptor_variant,,ENST00000463569,;CDC14B,splice_acceptor_variant,,ENST00000375240,;CDC14B,splice_acceptor_variant,,ENST00000375236,;CDC14B,splice_acceptor_variant,,ENST00000375241,;CDC14B,upstream_gene_variant,,ENST00000481149,;CDC14B,splice_acceptor_variant,,ENST00000412285,;CDC14B,splice_acceptor_variant,,ENST00000474602,;	.	179	144	SUCCESS
ARMCX1	51309	.	GRCh37	X	100808409	100808409	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	59	83	1	ENST00000372829.3:c.496A>G	p.Ser166Gly	p.S166G	ENST00000372829	NM_016608.1	166	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS14487.1	496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAAGTGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF14	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.1)	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,missense_variant,p.Ser166Gly,ENST00000372829,;	867	84	74	SUCCESS
ARMCX3	51566	.	GRCh37	X	100880234	100880234	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	28	36	0	ENST00000341189.4:c.265A>T	p.Arg89Ter	p.R89*	ENST00000341189	NM_016607.3	89	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS14489.1	265	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCAGAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF8	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	SNV	ARMCX3,stop_gained,p.Arg89Ter,ENST00000471229,;ARMCX3,stop_gained,p.Arg89Ter,ENST00000341189,;ARMCX3,stop_gained,p.Arg89Ter,ENST00000491568,;ARMCX3,stop_gained,p.Arg89Ter,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	1131	36	29	SUCCESS
NXF4	55999	.	GRCh37	X	101805018	101805018	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	82	107	1	ENST00000360035.2:n.126A>G		p.*42*	ENST00000360035				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGAGGTGG	NONE	.	.	.	.	.	.	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000360035	Transcript	.	.	ENSG00000196970	8074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NXF4	HGNC	.	.	.	SNV	NXF4,non_coding_transcript_exon_variant,,ENST00000360035,;FOXN3P1,upstream_gene_variant,,ENST00000325117,;	126	109	94	SUCCESS
NRK	203447	.	GRCh37	X	105153328	105153328	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	73	101	0	ENST00000243300.9:c.1695T>G	p.Ala565=	p.A565=	ENST00000243300	NM_198465.2	565	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	.	1698	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCTGCCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF216	.	.	ENSP00000438378	.	13/29	.	.	.	.	.	.	.	.	.	13/29	PASS	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,synonymous_variant,p.%3D,ENST00000428173,;NRK,synonymous_variant,p.%3D,ENST00000243300,;	2001	101	81	SUCCESS
COL4A5	1287	.	GRCh37	X	107821343	107821343	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	135	180	0	ENST00000361603.2:c.681T>A	p.Gly227=	p.G227=	ENST00000361603	NM_000495.4	227	ggT/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS35366.1	681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGTGAAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF381,hmmpanther:PTHR24023	.	.	ENSP00000331902	.	12/53	.	.	.	.	.	.	.	.	.	12/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,synonymous_variant,p.%3D,ENST00000328300,;COL4A5,synonymous_variant,p.%3D,ENST00000361603,;COL4A5,upstream_gene_variant,,ENST00000483338,;	925	180	148	SUCCESS
PAK3	5063	.	GRCh37	X	110391047	110391047	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	210	232	0	ENST00000262836.4:c.404T>C	p.Leu135Pro	p.L135P	ENST00000262836	NM_001128173.1	135	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS48151.1	467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTAGATG	NONE	.	.	hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361,Gene3D:3.90.810.10,Pfam_domain:PF00786	.	.	ENSP00000353864	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000360648	Transcript	.	.	ENSG00000077264	8592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	PAK3_HUMAN	PAK3	HGNC	B1AKS5_HUMAN	.	UPI0000D61DBC	SNV	PAK3,missense_variant,p.Leu135Pro,ENST00000372010,;PAK3,missense_variant,p.Leu156Pro,ENST00000360648,;PAK3,missense_variant,p.Leu156Pro,ENST00000429193,;PAK3,missense_variant,p.Leu120Pro,ENST00000446737,;PAK3,missense_variant,p.Leu141Pro,ENST00000417227,;PAK3,missense_variant,p.Leu120Pro,ENST00000425146,;PAK3,missense_variant,p.Leu156Pro,ENST00000518291,;PAK3,missense_variant,p.Leu135Pro,ENST00000262836,;PAK3,missense_variant,p.Leu120Pro,ENST00000372007,;PAK3,missense_variant,p.Leu141Pro,ENST00000519681,;PAK3,non_coding_transcript_exon_variant,,ENST00000487802,;	494	232	233	SUCCESS
ZCCHC16	0	.	GRCh37	X	111698806	111698806	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	123	163	1	ENST00000340433.2:c.850A>G	p.Ser284Gly	p.S284G	ENST00000340433	NM_001004308.2	284	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS35369.1	850	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCAGCCAA	NONE	.	.	PROSITE_profiles:PS50158,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF8,Gene3D:4.10.60.10,Superfamily_domains:SSF57756	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated(0.48)	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,missense_variant,p.Ser284Gly,ENST00000340433,;	1080	165	139	SUCCESS
RBMXL3	139804	.	GRCh37	X	114424720	114424720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	26	38	0	ENST00000424776.3:c.716T>C	p.Val239Ala	p.V239A	ENST00000424776	NM_001145346.1	239	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS55478.1	716	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGTCCGGG	NONE	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.058)	.	tolerated_low_confidence(0.45)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Val239Ala,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	758	38	31	SUCCESS
DOCK11	139818	.	GRCh37	X	117722105	117722105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	42	51	0	ENST00000276202.7:c.1801A>G	p.Ile601Val	p.I601V	ENST00000276202	NM_144658.3	601	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS35373.1	1801	RADIA|MUTECT|MUSE	.	ATTGTATTACT	NONE	.	.	hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317	.	.	ENSP00000276202	.	17/53	.	.	.	.	.	.	.	.	.	17/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(1)	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,missense_variant,p.Ile601Val,ENST00000276204,;DOCK11,missense_variant,p.Ile601Val,ENST00000276202,;	1864	51	44	SUCCESS
DOCK11	139818	.	GRCh37	X	117722147	117722147	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	39	56	0	ENST00000276202.7:c.1843T>G	p.Cys615Gly	p.C615G	ENST00000276202	NM_144658.3	615	Tgc/Ggc	0	.	.	.	.	.	G	C/G	protein_coding	YES	CCDS35373.1	1843	RADIA|MUTECT|MUSE	.	AGAATTGCCAA	NONE	.	.	hmmpanther:PTHR23317:SF81,hmmpanther:PTHR23317	.	.	ENSP00000276202	.	17/53	.	.	.	.	.	.	.	.	.	17/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.036)	.	tolerated(0.41)	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,missense_variant,p.Cys615Gly,ENST00000276204,;DOCK11,missense_variant,p.Cys615Gly,ENST00000276202,;	1906	56	44	SUCCESS
IL13RA1	3597	.	GRCh37	X	117910394	117910394	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	37	0	ENST00000371666.3:c.1111A>G	p.Lys371Glu	p.K371E	ENST00000371666	NM_001560.2	371	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS14573.1	1111	RADIA|VARSCANS	.	GGCTCAAGATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF85	.	.	ENSP00000360730	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000371666	Transcript	.	.	ENSG00000131724	5974	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	I13R1_HUMAN	IL13RA1	HGNC	.	.	UPI0000000CA3	SNV	IL13RA1,missense_variant,p.Lys170Glu,ENST00000371637,;IL13RA1,missense_variant,p.Lys371Glu,ENST00000371666,;	1178	37	26	SUCCESS
TLR7	51284	.	GRCh37	X	12905637	12905637	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	30	57	0	ENST00000380659.3:c.2010T>G	p.Phe670Leu	p.F670L	ENST00000380659	NM_016562.3	670	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS14151.1	2010	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTGATGG	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00365,SMART_domains:SM00369,Pfam_domain:PF00560,Gene3D:3.80.10.10,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	.	.	ENSP00000370034	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380659	Transcript	.	.	ENSG00000196664	15631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0.03)	.	TLR7_HUMAN	TLR7	HGNC	B2R9N9_HUMAN	.	UPI000004BAF6	SNV	TLR7,missense_variant,p.Phe670Leu,ENST00000380659,;	2149	57	42	SUCCESS
TLR8	51311	.	GRCh37	X	12924792	12924792	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	82	188	1	ENST00000218032.6:c.-34A>G		p.*12*	ENST00000218032	NM_138636.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14152.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAAGTTA	NONE	.	.	.	.	.	ENSP00000218032	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,5_prime_UTR_variant,,ENST00000311912,;TLR8,5_prime_UTR_variant,,ENST00000218032,;TLR8-AS1,intron_variant,,ENST00000451564,;	54	189	107	SUCCESS
TLR8	51311	.	GRCh37	X	12938413	12938413	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	35	51	0	ENST00000218032.6:c.1254C>A	p.Ser418=	p.S418=	ENST00000218032	NM_138636.4	418	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14152.1	1254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCAATCT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	COSM755375	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,synonymous_variant,p.%3D,ENST00000311912,;TLR8,synonymous_variant,p.%3D,ENST00000218032,;	1341	51	37	SUCCESS
TLR8	51311	.	GRCh37	X	12939723	12939723	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	37	53	1	ENST00000218032.6:c.2564A>T	p.Asp855Val	p.D855V	ENST00000218032	NM_138636.4	855	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS14152.1	2564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGATGTTT	NONE	.	.	hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227	.	.	ENSP00000218032	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000218032	Transcript	.	.	ENSG00000101916	15632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TLR8_HUMAN	TLR8	HGNC	Q8NC00_HUMAN,B4DLJ2_HUMAN	.	UPI000004BAFC	SNV	TLR8,missense_variant,p.Asp873Val,ENST00000311912,;TLR8,missense_variant,p.Asp855Val,ENST00000218032,;	2651	54	40	SUCCESS
IGSF1	3547	.	GRCh37	X	130419759	130419759	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771589427	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	36	34	0	ENST00000361420.3:c.361C>A	p.Leu121Ile	p.L121I	ENST00000361420		121	Cta/Ata	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS55491.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTAGAACTT	NONE	.	.	Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000359940	.	4/20	.	.	.	.	.	.	.	.	rs771589427	4/20	PASS	ENST00000370903	Transcript	.	.	ENSG00000147255	5948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	IGSF1_HUMAN	IGSF1	HGNC	.	.	UPI0000E0C769	SNV	IGSF1,missense_variant,p.Leu121Ile,ENST00000370900,;IGSF1,missense_variant,p.Leu121Ile,ENST00000361420,;IGSF1,missense_variant,p.Leu112Ile,ENST00000370904,;IGSF1,missense_variant,p.Leu112Ile,ENST00000370910,;IGSF1,missense_variant,p.Leu121Ile,ENST00000370903,;IGSF1,missense_variant,p.Leu121Ile,ENST00000370901,;IGSF1,upstream_gene_variant,,ENST00000469836,;	644	34	37	SUCCESS
PLAC1	10761	.	GRCh37	X	133700330	133700330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	66	67	0	ENST00000359237.4:c.383G>T	p.Cys128Phe	p.C128F	ENST00000359237	NM_021796.3	128	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS14642.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCAGGGC	NONE	.	.	hmmpanther:PTHR14380:SF2,hmmpanther:PTHR14380,Pfam_domain:PF00100	.	.	ENSP00000352173	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000359237	Transcript	.	.	ENSG00000170965	9044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.67)	.	PLAC1_HUMAN	PLAC1	HGNC	.	.	UPI0000070F9F	SNV	PLAC1,missense_variant,p.Cys128Phe,ENST00000359237,;PLAC1,non_coding_transcript_exon_variant,,ENST00000476971,;PLAC1,downstream_gene_variant,,ENST00000473897,;	669	67	71	SUCCESS
FAM127A	0	.	GRCh37	X	134166338	134166338	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs779578586	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	22	29	0	ENST00000257013.7:c.-76T>C		p.*26*	ENST00000257013	NM_001078171.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43997.1	.	MUTECT|MUSE	.	CGCATTTCCGG	NONE	.	.	.	.	.	ENSP00000257013	.	1/1	.	.	.	.	.	.	.	.	rs779578586	1/1	PASS	ENST00000257013	Transcript	.	.	ENSG00000134590	2569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F127A_HUMAN	FAM127A	HGNC	.	.	UPI00000373C5	SNV	FAM127A,5_prime_UTR_variant,,ENST00000257013,;FAM127A,upstream_gene_variant,,ENST00000464369,;FAM127A,upstream_gene_variant,,ENST00000495563,;	6	29	22	SUCCESS
SAGE1	55511	.	GRCh37	X	134993960	134993960	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	63	78	0	ENST00000324447.3:c.2369A>C	p.Asn790Thr	p.N790T	ENST00000324447		790	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS14652.1	2369	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAACTACA	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	tolerated(0.14)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Asn790Thr,ENST00000370709,;SAGE1,missense_variant,p.Asn790Thr,ENST00000535938,;SAGE1,missense_variant,p.Asn414Thr,ENST00000537770,;SAGE1,missense_variant,p.Asn790Thr,ENST00000324447,;	2536	78	70	SUCCESS
LDOC1	23641	.	GRCh37	X	140271251	140271251	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	33	32	0	ENST00000370526.2:c.-45G>T		p.*15*	ENST00000370526	NM_012317.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14672.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGGCCAAGG	NONE	.	.	.	.	.	ENSP00000359557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370526	Transcript	.	.	ENSG00000182195	6548	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDOC1_HUMAN	LDOC1	HGNC	.	.	UPI00000373D3	SNV	LDOC1,5_prime_UTR_variant,,ENST00000370526,;RP3-507I15.2,upstream_gene_variant,,ENST00000566241,;LDOC1,upstream_gene_variant,,ENST00000460721,;	60	32	37	SUCCESS
MAGEC2	51438	.	GRCh37	X	141291576	141291576	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	31	41	0	ENST00000247452.3:c.198T>A	p.Pro66=	p.P66=	ENST00000247452	NM_016249.3	66	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14678.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAGGACC	NONE	.	.	hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29	.	.	ENSP00000354660	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000247452	Transcript	.	.	ENSG00000046774	13574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGC2_HUMAN	MAGEC2	HGNC	.	.	UPI000012F059	SNV	MAGEC2,synonymous_variant,p.%3D,ENST00000247452,;	546	41	34	SUCCESS
SLITRK2	84631	.	GRCh37	X	144904336	144904336	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	49	94	0	ENST00000370490.1:c.393A>T	p.Leu131=	p.L131=	ENST00000370490		131	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS14680.1	393	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAGGCCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,synonymous_variant,p.%3D,ENST00000370490,;SLITRK2,synonymous_variant,p.%3D,ENST00000434188,;SLITRK2,synonymous_variant,p.%3D,ENST00000428560,;SLITRK2,synonymous_variant,p.%3D,ENST00000413937,;SLITRK2,synonymous_variant,p.%3D,ENST00000447897,;SLITRK2,synonymous_variant,p.%3D,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	4648	94	54	SUCCESS
AFF2	2334	.	GRCh37	X	147967466	147967466	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	38	50	0	ENST00000370460.2:c.1310A>T	p.Glu437Val	p.E437V	ENST00000370460	NM_002025.3	437	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS14684.1	1310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Glu437Val,ENST00000370460,;AFF2,missense_variant,p.Glu404Val,ENST00000342251,;AFF2,missense_variant,p.Glu78Val,ENST00000286437,;AFF2,missense_variant,p.Glu404Val,ENST00000370457,;AFF2,missense_variant,p.Glu398Val,ENST00000370458,;	1789	50	43	SUCCESS
MTMR1	8776	.	GRCh37	X	149867740	149867740	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	28	42	0	ENST00000370390.3:c.219A>G	p.Ser73=	p.S73=	ENST00000370390	NM_003828.2	73	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS14695.1	219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGTGAC	NONE	.	.	hmmpanther:PTHR10807:SF40,hmmpanther:PTHR10807	.	.	ENSP00000440534	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000544228	Transcript	.	.	ENSG00000063601	7449	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTMR1_HUMAN	MTMR1	HGNC	F8W8S8_HUMAN,F8W764_HUMAN,E9PIH9_HUMAN,B7Z3D5_HUMAN	.	UPI0000167F8A	SNV	MTMR1,synonymous_variant,p.%3D,ENST00000436701,;MTMR1,synonymous_variant,p.%3D,ENST00000542156,;MTMR1,synonymous_variant,p.%3D,ENST00000438018,;MTMR1,synonymous_variant,p.%3D,ENST00000451863,;MTMR1,synonymous_variant,p.%3D,ENST00000544228,;MTMR1,synonymous_variant,p.%3D,ENST00000445323,;MTMR1,synonymous_variant,p.%3D,ENST00000370390,;MTMR1,synonymous_variant,p.%3D,ENST00000490316,;MTMR1,5_prime_UTR_variant,,ENST00000439546,;MTMR1,5_prime_UTR_variant,,ENST00000493995,;MTMR1,5_prime_UTR_variant,,ENST00000429965,;MTMR1,5_prime_UTR_variant,,ENST00000541925,;MTMR1,5_prime_UTR_variant,,ENST00000434699,;MTMR1,synonymous_variant,p.%3D,ENST00000485376,;	340	42	30	SUCCESS
PDZD4	57595	.	GRCh37	X	153073936	153073936	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782017871	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	40	83	0	ENST00000164640.4:c.175del	p.Asp59ThrfsTer86	p.D59Tfs*86	ENST00000164640	NM_032512.2	59	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS14732.1	175	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTGTCCCCCC	NONE	.	.	hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4	.	.	ENSP00000164640	.	2/8	.	.	.	.	.	.	.	.	rs782017871	2/8	PASS	ENST00000164640	Transcript	.	.	ENSG00000067840	21167	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDZD4_HUMAN	PDZD4	HGNC	Q17RL8_HUMAN	.	UPI0000211CAA	deletion	PDZD4,frameshift_variant,p.Asp59ThrfsTer86,ENST00000164640,;PDZD4,5_prime_UTR_variant,,ENST00000393758,;PDZD4,intron_variant,,ENST00000544474,;PDZD4,non_coding_transcript_exon_variant,,ENST00000475140,;PDZD4,non_coding_transcript_exon_variant,,ENST00000468491,;PDZD4,non_coding_transcript_exon_variant,,ENST00000483693,;PDZD4,intron_variant,,ENST00000480418,;PDZD4,upstream_gene_variant,,ENST00000484792,;PDZD4,frameshift_variant,p.Asp59ThrfsTer126,ENST00000480650,;	367	83	84	SUCCESS
TKTL1	8277	.	GRCh37	X	153537743	153537743	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	46	0	ENST00000369915.3:c.299T>G	p.Leu100Arg	p.L100R	ENST00000369915	NM_012253.3	100	cTg/cGg	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS35448.1	299	MUTECT|VARSCANS	.	AGGACTGGGAG	NONE	.	.	hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF53,Gene3D:3.40.50.970,Pfam_domain:PF00456,Superfamily_domains:SSF52518	.	.	ENSP00000358931	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000369915	Transcript	.	.	ENSG00000007350	11835	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	TKTL1_HUMAN	TKTL1	HGNC	Q5TYJ8_HUMAN,B7Z7I0_HUMAN	.	UPI0000211D08	SNV	TKTL1,missense_variant,p.Leu44Arg,ENST00000369912,;TKTL1,missense_variant,p.Leu100Arg,ENST00000426989,;TKTL1,missense_variant,p.Leu100Arg,ENST00000369915,;TKTL1,missense_variant,p.Leu83Arg,ENST00000426203,;TKTL1,intron_variant,,ENST00000217905,;TKTL1,missense_variant,p.Leu100Arg,ENST00000439635,;	488	46	38	SUCCESS
DKC1	1736	.	GRCh37	X	153996705	153996705	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	26	37	0	ENST00000369550.5:c.769A>G	p.Lys257Glu	p.K257E	ENST00000369550	NM_001363.3	257	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS14761.1	769	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAAAGGTA	NONE	.	.	hmmpanther:PTHR23127,TIGRFAM_domain:TIGR00425,Superfamily_domains:SSF55120	.	.	ENSP00000358563	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000369550	Transcript	.	.	ENSG00000130826	2890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.21)	.	DKC1_HUMAN	DKC1	HGNC	.	.	UPI00000325ED	SNV	DKC1,missense_variant,p.Lys257Glu,ENST00000369550,;DKC1,intron_variant,,ENST00000413910,;DKC1,downstream_gene_variant,,ENST00000437719,;SNORA36A,upstream_gene_variant,,ENST00000384221,;DKC1,upstream_gene_variant,,ENST00000475966,;DKC1,downstream_gene_variant,,ENST00000473552,;DKC1,missense_variant,p.Lys45Glu,ENST00000426673,;DKC1,splice_region_variant,,ENST00000484317,;DKC1,splice_region_variant,,ENST00000452771,;DKC1,intron_variant,,ENST00000412124,;DKC1,upstream_gene_variant,,ENST00000481062,;DKC1,downstream_gene_variant,,ENST00000475423,;	979	37	29	SUCCESS
DDX53	168400	.	GRCh37	X	23019627	23019627	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	68	111	0	ENST00000327968.5:c.1453A>G	p.Ser485Gly	p.S485G	ENST00000327968	NM_182699.3	485	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS35214.1	1453	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCAAGCGAC	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF157,hmmpanther:PTHR24031,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000368667	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327968	Transcript	.	.	ENSG00000184735	20083	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	DDX53_HUMAN	DDX53	HGNC	.	.	UPI0000199904	SNV	DDX53,missense_variant,p.Ser485Gly,ENST00000327968,;RP11-40F8.2,intron_variant,,ENST00000455399,;RP11-40F8.2,intron_variant,,ENST00000608254,;	1541	111	74	SUCCESS
FAM47C	442444	.	GRCh37	X	37027900	37027900	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	43	51	0	ENST00000358047.3:c.1417C>T	p.His473Tyr	p.H473Y	ENST00000358047	NM_001013736.2	473	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS35227.1	1417	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCATCTC	NONE	.	.	hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000367913	.	1/1	.	.	.	.	.	.	.	.	COSM3561519,COSM3561518	1/1	PASS	ENST00000358047	Transcript	.	.	ENSG00000198173	25301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.138)	.	tolerated_low_confidence(0.5)	1,1	FA47C_HUMAN	FAM47C	HGNC	.	.	UPI000041ABF8	SNV	FAM47C,missense_variant,p.His473Tyr,ENST00000358047,;	1469	51	47	SUCCESS
BCOR	54880	.	GRCh37	X	39933595	39933595	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	29	0	ENST00000378444.4:c.1004C>G	p.Pro335Arg	p.P335R	ENST00000378444	NM_001123385.1	335	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS48093.1	1004	RADIA|VARSCANS	.	GCGAGGGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	.	.	ENSP00000367705	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000378444	Transcript	.	.	ENSG00000183337	20893	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	tolerated(0.06)	.	BCOR_HUMAN	BCOR	HGNC	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN	.	UPI00002318CF	SNV	BCOR,missense_variant,p.Pro335Arg,ENST00000397354,;BCOR,missense_variant,p.Pro335Arg,ENST00000378444,;BCOR,missense_variant,p.Pro335Arg,ENST00000406200,;BCOR,missense_variant,p.Pro335Arg,ENST00000378455,;BCOR,missense_variant,p.Pro335Arg,ENST00000342274,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	1233	29	30	SUCCESS
UBA1	7317	.	GRCh37	X	47074244	47074244	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	22	29	0	ENST00000335972.6:c.3093G>A	p.Val1031=	p.V1031=	ENST00000335972	NM_003334.3	1031	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS14275.1	3093	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGTGCGGGC	NONE	.	.	hmmpanther:PTHR10953:SF136,hmmpanther:PTHR10953,TIGRFAM_domain:TIGR01408,Pfam_domain:PF09358,SMART_domains:SM00985	.	.	ENSP00000338413	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000335972	Transcript	.	.	ENSG00000130985	12469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBA1_HUMAN	UBA1	HGNC	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN	.	UPI0000137946	SNV	UBA1,synonymous_variant,p.%3D,ENST00000377269,;UBA1,synonymous_variant,p.%3D,ENST00000335972,;UBA1,synonymous_variant,p.%3D,ENST00000377351,;CDK16,upstream_gene_variant,,ENST00000457458,;CDK16,upstream_gene_variant,,ENST00000517426,;CDK16,upstream_gene_variant,,ENST00000520893,;CDK16,upstream_gene_variant,,ENST00000519758,;CDK16,upstream_gene_variant,,ENST00000522883,;CDK16,upstream_gene_variant,,ENST00000357227,;CDK16,upstream_gene_variant,,ENST00000517479,;CDK16,upstream_gene_variant,,ENST00000517997,;CDK16,upstream_gene_variant,,ENST00000520295,;CDK16,upstream_gene_variant,,ENST00000522234,;	3276	29	23	SUCCESS
SUV39H1	6839	.	GRCh37	X	48558575	48558575	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	97	124	1	ENST00000376687.3:c.259A>T	p.Lys87Ter	p.K87*	ENST00000376687	NM_003173.2	87	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS14304.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCAAGCAG	NONE	.	.	PROSITE_profiles:PS50013,PROSITE_profiles:PS51579,hmmpanther:PTHR22884:SF316,hmmpanther:PTHR22884,Gene3D:2.40.50.40,Pfam_domain:PF00385,PIRSF_domain:PIRSF009343,SMART_domains:SM00298,Superfamily_domains:SSF54160	.	.	ENSP00000365877	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000376687	Transcript	.	.	ENSG00000101945	11479	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUV91_HUMAN	SUV39H1	HGNC	.	.	UPI000002E1D7	SNV	SUV39H1,stop_gained,p.Lys98Ter,ENST00000337852,;SUV39H1,stop_gained,p.Lys87Ter,ENST00000376687,;SUV39H1,missense_variant,p.Gln24Leu,ENST00000453214,;AF196970.3,non_coding_transcript_exon_variant,,ENST00000416061,;	449	125	107	SUCCESS
GPR173	54328	.	GRCh37	X	53106453	53106453	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	24	18	0	ENST00000332582.4:c.650T>C	p.Met217Thr	p.M217T	ENST00000332582	NM_018969.5	217	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS14349.1	650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATGAAGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR19268:SF4,hmmpanther:PTHR19268,Gene3D:1.20.1070.10,Pfam_domain:PF00001	.	.	ENSP00000331600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332582	Transcript	.	.	ENSG00000184194	18186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious(0)	.	GP173_HUMAN	GPR173	HGNC	J3KPD1_HUMAN	.	UPI0000050480	SNV	GPR173,missense_variant,p.Met217Thr,ENST00000332582,;GPR173,downstream_gene_variant,,ENST00000375466,;	1141	18	27	SUCCESS
TRO	7216	.	GRCh37	X	54955840	54955840	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	0	40	53	0	ENST00000173898.7:c.2683A>T	p.Thr895Ser	p.T895S	ENST00000173898	NM_001039705.2	895	Acc/Tcc	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS43959.1	2683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCACCAGT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious(0.04)	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,missense_variant,p.Thr498Ser,ENST00000375041,;TRO,missense_variant,p.Thr426Ser,ENST00000420798,;TRO,missense_variant,p.Thr895Ser,ENST00000173898,;TRO,intron_variant,,ENST00000375022,;TRO,intron_variant,,ENST00000319167,;TRO,intron_variant,,ENST00000399736,;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000545676,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	2795	53	40	SUCCESS
NLGN4X	57502	.	GRCh37	X	5810965	5810965	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	52	107	0	ENST00000275857.6:c.2344A>T	p.Ile782Phe	p.I782F	ENST00000275857	NM_020742.2	782	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS14126.1	2344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAATCATGG	NONE	.	.	.	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.921)	.	deleterious_low_confidence(0.01)	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,missense_variant,p.Ile782Phe,ENST00000381092,;NLGN4X,missense_variant,p.Ile782Phe,ENST00000381095,;NLGN4X,missense_variant,p.Ile802Phe,ENST00000381093,;NLGN4X,missense_variant,p.Ile782Phe,ENST00000538097,;NLGN4X,missense_variant,p.Ile782Phe,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	2972	107	61	SUCCESS
MTMR8	55613	.	GRCh37	X	63490847	63490847	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs754619463	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	81	110	0	ENST00000374852.3:c.1588G>C	p.Asp530His	p.D530H	ENST00000374852	NM_017677.3	530	Gat/Cat	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS14379.1	1588	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCTGTCT	NONE	byFrequency	.	hmmpanther:PTHR10807:SF36,hmmpanther:PTHR10807,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000363985	.	13/14	.	.	.	.	.	.	.	.	rs754619463,COSM1491153	13/14	PASS	ENST00000374852	Transcript	.	.	ENSG00000102043	16825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	tolerated(0.86)	0,1	MTMR8_HUMAN	MTMR8	HGNC	.	.	UPI000006DFF7	SNV	MTMR8,missense_variant,p.Asp530His,ENST00000374852,;MTMR8,intron_variant,,ENST00000453546,;	1656	110	86	SUCCESS
HEPH	9843	.	GRCh37	X	65414937	65414937	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	51	76	0	ENST00000343002.2:c.1370-3C>A		p.X457_splice	ENST00000343002		457		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14384.3	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCAGGGC	NONE	.	.	.	.	.	ENSP00000430620	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000519389	Transcript	.	.	ENSG00000089472	4866	.	.	LOW	8/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HEPH_HUMAN	HEPH	HGNC	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN	.	UPI0001C06560	SNV	HEPH,splice_region_variant,,ENST00000425114,;HEPH,splice_region_variant,,ENST00000343002,;HEPH,splice_region_variant,,ENST00000519389,;HEPH,splice_region_variant,,ENST00000441993,;HEPH,splice_region_variant,,ENST00000374727,;HEPH,splice_region_variant,,ENST00000419594,;HEPH,splice_region_variant,,ENST00000336279,;	.	76	57	SUCCESS
AR	367	.	GRCh37	X	66937427	66937427	+	synonymous_variant	Silent	SNP	A	A	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	45	55	0	ENST00000374690.3:c.2281A>C	p.Arg761=	p.R761=	ENST00000374690	NM_000044.3	761	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS14387.1	2281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGGATG	NONE	.	.	hmmpanther:PTHR24084:SF6,hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508	.	.	ENSP00000363822	.	5/8	.	.	.	.	.	.	.	.	CX034080	5/8	PASS	ENST00000374690	Transcript	.	.	ENSG00000169083	644	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	.	AR	HGNC	Q9NUA2_HUMAN,Q9BZG5_HUMAN	.	UPI0000167B08	SNV	AR,synonymous_variant,p.%3D,ENST00000396043,;AR,synonymous_variant,p.%3D,ENST00000374690,;AR,intron_variant,,ENST00000396044,;	2805	55	51	SUCCESS
RLIM	51132	.	GRCh37	X	73812565	73812565	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	31	46	0	ENST00000332687.6:c.585A>T	p.Ser195=	p.S195=	ENST00000332687	NM_016120.3	195	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14427.1	585	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTTGAATT	NONE	.	.	hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	.	.	ENSP00000328059	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332687	Transcript	.	.	ENSG00000131263	13429	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF12_HUMAN	RLIM	HGNC	.	.	UPI000006FD6A	SNV	RLIM,synonymous_variant,p.%3D,ENST00000349225,;RLIM,synonymous_variant,p.%3D,ENST00000332687,;	804	46	38	SUCCESS
ATRX	546	.	GRCh37	X	76938245	76938245	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	50	54	0	ENST00000373344.5:c.2503A>T	p.Arg835Ter	p.R835*	ENST00000373344	NM_000489.3	835	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS14434.1	2503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTGGCAG	NONE	.	.	hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	.	ENSP00000362441	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,stop_gained,p.Arg797Ter,ENST00000395603,;ATRX,stop_gained,p.Arg835Ter,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;	2718	54	51	SUCCESS
BRWD3	254065	.	GRCh37	X	79979304	79979304	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	39	48	0	ENST00000373275.4:c.1593A>G	p.Thr531=	p.T531=	ENST00000373275	NM_153252.4	531	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS14447.1	1593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCTGTGCA	NONE	.	.	hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362372	.	16/41	.	.	.	.	.	.	.	.	.	16/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	SNV	BRWD3,synonymous_variant,p.%3D,ENST00000373275,;BRWD3,upstream_gene_variant,,ENST00000497335,;BRWD3,upstream_gene_variant,,ENST00000473691,;	1810	48	41	SUCCESS
BRWD3	254065	.	GRCh37	X	79999579	79999579	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	14	233	1	ENST00000373275.4:c.765A>G	p.Ala255=	p.A255=	ENST00000373275	NM_153252.4	255	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS14447.1	765	MUTECT|MUSE	.	ACGGGTGCACA	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000362372	.	8/41	.	.	.	.	.	.	.	.	COSM3845471	8/41	PASS	ENST00000373275	Transcript	.	.	ENSG00000165288	17342	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	BRWD3_HUMAN	BRWD3	HGNC	.	.	UPI000045785B	SNV	BRWD3,synonymous_variant,p.%3D,ENST00000373275,;BRWD3,non_coding_transcript_exon_variant,,ENST00000478415,;	982	234	209	SUCCESS
RPS6KA6	27330	.	GRCh37	X	83390124	83390124	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	215	284	0	ENST00000262752.2:c.596T>G	p.Leu199Arg	p.L199R	ENST00000262752	NM_014496.4	199	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS14451.1	596	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGGTCT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,PROSITE_patterns:PS00108,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000262752	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000262752	Transcript	.	.	ENSG00000072133	10435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KS6A6_HUMAN	RPS6KA6	HGNC	.	.	UPI0000035B52	SNV	RPS6KA6,missense_variant,p.Leu199Arg,ENST00000262752,;RPS6KA6,missense_variant,p.Leu199Arg,ENST00000543399,;	604	284	241	SUCCESS
DACH2	117154	.	GRCh37	X	85769362	85769362	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	165	206	0	ENST00000373125.4:c.608G>T	p.Gly203Val	p.G203V	ENST00000373125	NM_053281.3	203	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS14455.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCCTCT	NONE	.	.	hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7	.	.	ENSP00000362217	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000373125	Transcript	.	.	ENSG00000126733	16814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.581)	.	deleterious(0)	.	DACH2_HUMAN	DACH2	HGNC	.	.	UPI00000717B4	SNV	DACH2,missense_variant,p.Gly203Val,ENST00000373125,;DACH2,missense_variant,p.Gly190Val,ENST00000373131,;DACH2,missense_variant,p.Gly36Val,ENST00000508860,;DACH2,5_prime_UTR_variant,,ENST00000510272,;DACH2,missense_variant,p.Gly203Val,ENST00000461604,;DACH2,3_prime_UTR_variant,,ENST00000506327,;	608	206	185	SUCCESS
FAM9A	171482	.	GRCh37	X	8767070	8767070	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	56	90	0	ENST00000381003.3:c.157A>T	p.Arg53Trp	p.R53W	ENST00000381003	NM_174951.3	53	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS14131.1	157	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGCTGC	NONE	.	.	hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF2	.	.	ENSP00000440163	.	3/10	.	.	.	.	.	.	.	.	COSM1126299	3/10	PASS	ENST00000543214	Transcript	.	.	ENSG00000183304	18403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.709)	.	deleterious_low_confidence(0)	1	FAM9A_HUMAN	FAM9A	HGNC	.	.	UPI000012A418	SNV	FAM9A,missense_variant,p.Arg53Trp,ENST00000543214,;FAM9A,missense_variant,p.Arg53Trp,ENST00000381003,;	293	90	62	SUCCESS
PCDH11X	27328	.	GRCh37	X	91873834	91873834	+	synonymous_variant	Silent	SNP	C	C	T	rs761670220	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	141	154	0	ENST00000373094.1:c.3939C>T	p.Pro1313=	p.P1313=	ENST00000373094	NM_032968.3	1313	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14461.1	3939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCCAGTGA	NONE	.	.	hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	.	.	ENSP00000362186	.	7/7	.	.	.	.	.	.	.	.	rs761670220	7/7	PASS	ENST00000373094	Transcript	.	.	ENSG00000102290	8656	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11X_HUMAN	PCDH11X	HGNC	Q70LT5_HUMAN,Q70LT4_HUMAN	.	UPI0000070BD8	SNV	PCDH11X,synonymous_variant,p.%3D,ENST00000406881,;PCDH11X,synonymous_variant,p.%3D,ENST00000373097,;PCDH11X,synonymous_variant,p.%3D,ENST00000373094,;PCDH11X,synonymous_variant,p.%3D,ENST00000373088,;PCDH11X,synonymous_variant,p.%3D,ENST00000361655,;PCDH11X,synonymous_variant,p.%3D,ENST00000298274,;PCDH11X,3_prime_UTR_variant,,ENST00000504220,;	4784	154	149	SUCCESS
ARID5B	84159	.	GRCh37	10	63851284	63851284	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	10	131	0	ENST00000279873.7:c.2062T>C	p.Ser688Pro	p.S688P	ENST00000279873	NM_032199.2	688	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS31208.1	2062	MUTECT|MUSE	.	TCATGTCCCCA	NONE	.	.	hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22	.	.	ENSP00000279873	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,missense_variant,p.Ser688Pro,ENST00000279873,;ARID5B,missense_variant,p.Ser445Pro,ENST00000309334,;	2472	131	148	SUCCESS
SFMBT2	57713	.	GRCh37	10	7205790	7205790	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	89	0	ENST00000361972.4:c.2627del	p.Lys876SerfsTer36	p.K876Sfs*36	ENST00000361972	NM_001018039.1	876	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS31138.1	2627	INDELOCATOR*|VARSCANI*|PINDEL	.	CATAACTTGATG	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	.	.	ENSP00000355109	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	deletion	SFMBT2,frameshift_variant,p.Lys876SerfsTer36,ENST00000361972,;SFMBT2,frameshift_variant,p.Lys876SerfsTer36,ENST00000397167,;	2718	89	98	SUCCESS
SLC29A2	3177	.	GRCh37	11	66135014	66135014	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	42	124	0	ENST00000357440.2:c.654T>C	p.Phe218=	p.F218=	ENST00000357440	NM_001532.2	218	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS8137.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCAAACTT	NONE	.	.	hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332,Pfam_domain:PF01733,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473	.	.	ENSP00000350024	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000357440	Transcript	.	.	ENSG00000174669	11004	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S29A2_HUMAN	SLC29A2	HGNC	.	.	UPI000013F0E7	SNV	SLC29A2,synonymous_variant,p.%3D,ENST00000311161,;SLC29A2,synonymous_variant,p.%3D,ENST00000546034,;SLC29A2,synonymous_variant,p.%3D,ENST00000544554,;SLC29A2,synonymous_variant,p.%3D,ENST00000357440,;RP11-867G23.8,downstream_gene_variant,,ENST00000531602,;RP11-867G23.8,downstream_gene_variant,,ENST00000580881,;SLC29A2,missense_variant,p.Cys196Arg,ENST00000541567,;SLC29A2,synonymous_variant,p.%3D,ENST00000540386,;	883	124	48	SUCCESS
MRPL17	63875	.	GRCh37	11	6704594	6704594	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	94	0	ENST00000288937.6:c.-67T>A		p.*23*	ENST00000288937	NM_022061.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31412.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCAATTTC	NONE	.	.	.	.	.	ENSP00000288937	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000288937	Transcript	.	.	ENSG00000158042	14053	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM17_HUMAN	MRPL17	HGNC	.	.	UPI0000070867	SNV	MRPL17,5_prime_UTR_variant,,ENST00000288937,;MRPL17,upstream_gene_variant,,ENST00000532203,;MRPL17,upstream_gene_variant,,ENST00000532676,;MRPL17,upstream_gene_variant,,ENST00000529958,;RP11-732A19.1,downstream_gene_variant,,ENST00000464563,;	39	94	51	SUCCESS
SLC5A8	160728	.	GRCh37	12	101561932	101561932	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	194	55	220	0	ENST00000536262.2:c.1262del	p.Gly421ValfsTer26	p.G421Vfs*26	ENST00000536262	NM_145913.3	421	gGt/gt	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS9080.1	1262	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCCACCAACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000445340	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000536262	Transcript	.	.	ENSG00000256870	19119	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC5A8_HUMAN	SLC5A8	HGNC	.	.	UPI000004DAF6	deletion	SLC5A8,frameshift_variant,p.Gly421ValfsTer26,ENST00000536262,;	1821	220	249	SUCCESS
CCDC53	0	.	GRCh37	12	102439885	102439885	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	102	238	0	ENST00000240079.6:c.163C>G	p.Leu55Val	p.L55V	ENST00000240079	NM_016053.2	55	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS44959.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGGTCTG	BUFFER|p.R58C|c.172C>T|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13015:SF0,hmmpanther:PTHR13015,Pfam_domain:PF10152	.	.	ENSP00000240079	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000240079	Transcript	.	.	ENSG00000120860	24256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	tolerated(0.09)	.	CCD53_HUMAN	CCDC53	HGNC	F5H0A7_HUMAN	.	UPI00001254D2	SNV	CCDC53,missense_variant,p.Leu55Val,ENST00000545679,;CCDC53,missense_variant,p.Leu55Val,ENST00000240079,;CCDC53,missense_variant,p.Leu5Val,ENST00000542923,;CCDC53,non_coding_transcript_exon_variant,,ENST00000539515,;CCDC53,missense_variant,p.Leu55Val,ENST00000544341,;CCDC53,missense_variant,p.Leu55Val,ENST00000540536,;CCDC53,3_prime_UTR_variant,,ENST00000535501,;CCDC53,3_prime_UTR_variant,,ENST00000500685,;CCDC53,3_prime_UTR_variant,,ENST00000538761,;CCDC53,non_coding_transcript_exon_variant,,ENST00000541569,;CCDC53,non_coding_transcript_exon_variant,,ENST00000326351,;	325	238	183	SUCCESS
STAB2	55576	.	GRCh37	12	104048376	104048376	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs752616430	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	149	0	ENST00000388887.2:c.1451T>C	p.Val484Ala	p.V484A	ENST00000388887	NM_017564.9	484	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31888.1	1451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGTAAAAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,Superfamily_domains:SSF82153	.	.	ENSP00000373539	.	13/69	.	.	.	.	.	.	.	.	.	13/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(1)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Val484Ala,ENST00000388887,;RP11-341G23.2,downstream_gene_variant,,ENST00000551905,;	1655	149	134	SUCCESS
STX2	2054	.	GRCh37	12	131285985	131285985	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	10	147	0	ENST00000392373.2:c.512G>C	p.Gly171Ala	p.G171A	ENST00000392373	NM_194356.2	171	gGg/gCg	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS9270.1	512	MUTECT|MUSE|VARSCANS	.	GCTTCCCGCTC	NONE	.	.	hmmpanther:PTHR19957:SF36,hmmpanther:PTHR19957,Superfamily_domains:SSF47661	.	.	ENSP00000376178	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000392373	Transcript	.	.	ENSG00000111450	3403	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.366)	.	deleterious(0.01)	.	STX2_HUMAN	STX2	HGNC	.	.	UPI00001D69FD	SNV	STX2,missense_variant,p.Gly171Ala,ENST00000392373,;STX2,missense_variant,p.Gly171Ala,ENST00000261653,;STX2,3_prime_UTR_variant,,ENST00000344271,;STX2,non_coding_transcript_exon_variant,,ENST00000540889,;	607	147	129	SUCCESS
SLCO1C1	53919	.	GRCh37	12	20858984	20858984	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	51	0	ENST00000266509.2:c.373C>T	p.Leu125Phe	p.L125F	ENST00000266509	NM_017435.4	125	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS53757.1	373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCTCATT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF18,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Superfamily_domains:SSF103473	.	.	ENSP00000370964	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000381552	Transcript	.	.	ENSG00000139155	13819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.337)	.	deleterious(0.01)	.	SO1C1_HUMAN	SLCO1C1	HGNC	.	.	UPI00004C3E1B	SNV	SLCO1C1,missense_variant,p.Leu125Phe,ENST00000381552,;SLCO1C1,missense_variant,p.Leu125Phe,ENST00000545604,;SLCO1C1,missense_variant,p.Leu7Phe,ENST00000545102,;SLCO1C1,missense_variant,p.Leu125Phe,ENST00000266509,;SLCO1C1,missense_variant,p.Leu125Phe,ENST00000540354,;SLCO1C1,intron_variant,,ENST00000539415,;	741	51	81	SUCCESS
SMUG1	23583	.	GRCh37	12	54576393	54576393	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	70	0	ENST00000337581.3:c.300A>C	p.Glu100Asp	p.E100D	ENST00000337581		100	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS8874.1	300	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTACTTCCCC	NONE	.	.	hmmpanther:PTHR13235,Pfam_domain:PF03167,Gene3D:3.40.470.10,Superfamily_domains:SSF52141	.	.	ENSP00000424191	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000508394	Transcript	.	.	ENSG00000123415	17148	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	tolerated(0.12)	.	SMUG1_HUMAN	SMUG1	HGNC	D6RIA4_HUMAN,D6RD88_HUMAN,D6RAS0_HUMAN,D6RA78_HUMAN,D6RA25_HUMAN	.	UPI0000073EC2	SNV	SMUG1,missense_variant,p.Glu100Asp,ENST00000401977,;SMUG1,missense_variant,p.Glu100Asp,ENST00000508394,;SMUG1,missense_variant,p.Glu100Asp,ENST00000506595,;SMUG1,missense_variant,p.Glu100Asp,ENST00000337581,;SMUG1,missense_variant,p.Glu100Asp,ENST00000507904,;SMUG1,missense_variant,p.Glu100Asp,ENST00000514196,;SMUG1,missense_variant,p.Glu100Asp,ENST00000504338,;SMUG1,missense_variant,p.Glu100Asp,ENST00000243112,;SMUG1,missense_variant,p.Glu100Asp,ENST00000513838,;SMUG1,missense_variant,p.Glu100Asp,ENST00000514685,;SMUG1,3_prime_UTR_variant,,ENST00000505128,;SMUG1,downstream_gene_variant,,ENST00000503306,;SMUG1,downstream_gene_variant,,ENST00000504797,;SMUG1,downstream_gene_variant,,ENST00000506169,;SMUG1,non_coding_transcript_exon_variant,,ENST00000505662,;SMUG1,downstream_gene_variant,,ENST00000503231,;SMUG1,downstream_gene_variant,,ENST00000505597,;SMUG1,missense_variant,p.Glu98Asp,ENST00000509864,;SMUG1,non_coding_transcript_exon_variant,,ENST00000511522,;SMUG1,non_coding_transcript_exon_variant,,ENST00000509078,;SMUG1,non_coding_transcript_exon_variant,,ENST00000511854,;SMUG1,downstream_gene_variant,,ENST00000503447,;	363	70	70	SUCCESS
CCDC41	0	.	GRCh37	12	94703723	94703723	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	51	159	0	ENST00000397809.5:c.1972A>T	p.Met658Leu	p.M658L	ENST00000397809	NM_016122.2	658	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS41820.1	1972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATGCTTG	NONE	.	.	hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF2	.	.	ENSP00000380911	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000397809	Transcript	.	.	ENSG00000173588	17966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.42)	.	.	CCDC41	HGNC	J3KNW7_HUMAN,H0YHH5_HUMAN	.	UPI0000D4BD6F	SNV	CCDC41,missense_variant,p.Met658Leu,ENST00000397809,;CCDC41,missense_variant,p.Met658Leu,ENST00000339839,;CCDC41,missense_variant,p.Met122Leu,ENST00000552632,;PLXNC1,downstream_gene_variant,,ENST00000545312,;PLXNC1,downstream_gene_variant,,ENST00000547057,;PLXNC1,downstream_gene_variant,,ENST00000258526,;CCDC41,non_coding_transcript_exon_variant,,ENST00000546783,;CCDC41,downstream_gene_variant,,ENST00000547232,;	2522	159	132	SUCCESS
PCCA	5095	.	GRCh37	13	100925472	100925472	+	synonymous_variant	Silent	SNP	C	C	A	rs138149179	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	52	82	0	ENST00000376285.1:c.937C>A	p.Arg313=	p.R313=	ENST00000376285	NM_000282.3	313	Cga/Aga	0	.	T:0	.	T:0	.	A	R	protein_coding	YES	CCDS9496.2	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AGACTCGAAGA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866,Gene3D:3.30.470.20,Pfam_domain:PF02786,Superfamily_domains:SSF56059	T:0	.	ENSP00000365462	T:0.001	12/24	.	.	.	.	.	.	.	.	CM991019,rs138149179	12/24	PASS	ENST00000376285	Transcript	.	T:0.0002	ENSG00000175198	8653	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	T:0	.	.	PCCA_HUMAN	PCCA	HGNC	.	.	UPI0000070089	SNV	PCCA,synonymous_variant,p.%3D,ENST00000376286,;PCCA,synonymous_variant,p.%3D,ENST00000376279,;PCCA,synonymous_variant,p.%3D,ENST00000376285,;	975	82	165	SUCCESS
MYO16	23026	.	GRCh37	13	109707405	109707405	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	202	308	315	0	ENST00000356711.2:c.2994G>A	p.Lys998=	p.K998=	ENST00000356711	NM_015011.1	998	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS32008.1	2994	RADIA|SOMATICSNIPER|VARSCANS	.	AAAAAGAAAGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,Pfam_domain:PF00063,SMART_domains:SM00242	.	.	ENSP00000349145	.	26/35	.	.	.	.	.	.	.	.	COSM3688598,COSM3688599	26/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	LOW	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,synonymous_variant,p.%3D,ENST00000457511,;MYO16,synonymous_variant,p.%3D,ENST00000356711,;MYO16,synonymous_variant,p.%3D,ENST00000357550,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	3120	315	510	SUCCESS
RASA3	22821	.	GRCh37	13	114751254	114751254	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	84	109	0	ENST00000334062.7:c.2261A>C	p.Lys754Thr	p.K754T	ENST00000334062	NM_007368.2	754	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS32016.1	2261	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATTTGCTC	NONE	.	.	hmmpanther:PTHR10194:SF53,hmmpanther:PTHR10194	.	.	ENSP00000335029	.	23/24	.	.	.	.	.	.	.	.	COSM116775	23/24	PASS	ENST00000334062	Transcript	.	.	ENSG00000185989	20331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.473)	.	tolerated(0.57)	1	RASA3_HUMAN	RASA3	HGNC	F8W6X8_HUMAN	.	UPI000000DBC1	SNV	RASA3,missense_variant,p.Lys722Thr,ENST00000389544,;RASA3,missense_variant,p.Lys754Thr,ENST00000334062,;	2383	109	136	SUCCESS
OR4M1	441670	.	GRCh37	14	20249255	20249255	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	270	77	336	0	ENST00000315957.4:c.774C>A	p.Tyr258Ter	p.Y258*	ENST00000315957	NM_001005500.1	258	taC/taA	0	.	.	.	.	.	A	Y/*	protein_coding	YES	CCDS32021.1	774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTACATTTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000319654	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315957	Transcript	.	.	ENSG00000176299	14735	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR4M1_HUMAN	OR4M1	HGNC	.	.	UPI0000061F0F	SNV	OR4M1,stop_gained,p.Tyr258Ter,ENST00000315957,;OR4N2,intron_variant,,ENST00000557414,;	855	336	348	SUCCESS
OTX2	5015	.	GRCh37	14	57268457	57268457	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	126	0	ENST00000408990.3:c.866T>C	p.Leu289Ser	p.L289S	ENST00000408990		289	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS9728.1	890	MUTECT|MUSE	.	TTCACAAAACC	NONE	.	.	.	.	.	ENSP00000343819	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000339475	Transcript	.	.	ENSG00000165588	8522	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	OTX2_HUMAN	OTX2	HGNC	G3V3P9_HUMAN,F1T0D1_HUMAN	.	UPI000000161B	SNV	OTX2,missense_variant,p.Leu297Ser,ENST00000339475,;OTX2,missense_variant,p.Leu289Ser,ENST00000408990,;OTX2,missense_variant,p.Leu289Ser,ENST00000555006,;OTX2,downstream_gene_variant,,ENST00000554845,;OTX2,downstream_gene_variant,,ENST00000554559,;OTX2,downstream_gene_variant,,ENST00000555804,;OTX2,downstream_gene_variant,,ENST00000554788,;RP11-1085N6.6,upstream_gene_variant,,ENST00000602485,;	1167	126	80	SUCCESS
EMC7	56851	.	GRCh37	15	34376643	34376643	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	39	142	0	ENST00000256545.4:c.621G>A	p.Leu207=	p.L207=	ENST00000256545	NM_020154.2	207	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS10032.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCAACTC	NONE	.	.	hmmpanther:PTHR13605	.	.	ENSP00000256545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000256545	Transcript	.	.	ENSG00000134153	24301	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC7_HUMAN	EMC7	HGNC	.	.	UPI0000038A04	SNV	EMC7,synonymous_variant,p.%3D,ENST00000256545,;EMC7,synonymous_variant,p.%3D,ENST00000528949,;EMC7,synonymous_variant,p.%3D,ENST00000527822,;RP11-1084A12.1,downstream_gene_variant,,ENST00000487972,;	730	142	140	SUCCESS
LTK	4058	.	GRCh37	15	41800366	41800366	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs55683312	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	67	0	ENST00000263800.6:c.1150T>C	p.Cys384Arg	p.C384R	ENST00000263800	NM_002344.5	384	Tgc/Cgc	0	.	G:0	.	G:0	.	G	C/R	protein_coding	YES	CCDS10077.1	1150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCAGTGAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416	G:0.002	.	ENSP00000263800	G:0	9/20	.	.	.	.	.	.	.	.	rs55683312	9/20	PASS	ENST00000263800	Transcript	.	G:0.0004	ENSG00000062524	6721	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	G:0	deleterious_low_confidence(0)	.	LTK_HUMAN	LTK	HGNC	.	.	UPI000013D463	SNV	LTK,missense_variant,p.Cys66Arg,ENST00000561619,;LTK,missense_variant,p.Cys384Arg,ENST00000263800,;LTK,missense_variant,p.Cys323Arg,ENST00000453182,;LTK,missense_variant,p.Cys323Arg,ENST00000355166,;ITPKA,downstream_gene_variant,,ENST00000260386,;LTK,non_coding_transcript_exon_variant,,ENST00000569283,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;	1247	67	63	SUCCESS
PLA2G4D	283748	.	GRCh37	15	42378519	42378519	+	synonymous_variant	Silent	SNP	A	A	G	rs1354350876	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	27	58	0	ENST00000290472.3:c.279T>C	p.Tyr93=	p.Y93=	ENST00000290472	NM_178034.3	93	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS32203.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCATAGAT	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF25,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000290472	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000290472	Transcript	.	.	ENSG00000159337	30038	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PA24D_HUMAN	PLA2G4D	HGNC	.	.	UPI00001FE2F2	SNV	PLA2G4D,synonymous_variant,p.%3D,ENST00000290472,;PLA2G4D,upstream_gene_variant,,ENST00000560132,;	374	58	45	SUCCESS
TM6SF1	53346	.	GRCh37	15	83805347	83805347	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	217	8	282	0	ENST00000322019.9:c.1036C>T	p.Pro346Ser	p.P346S	ENST00000322019		346	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS10323.1	1036	MUTECT|MUSE	.	TTCTTCCTCAG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF10,Pfam_domain:PF10914	.	.	ENSP00000317000	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000322019	Transcript	.	.	ENSG00000136404	11860	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.511)	.	deleterious(0.02)	.	TM6S1_HUMAN	TM6SF1	HGNC	H3BM84_HUMAN,E9PD04_HUMAN	.	UPI0000039EA7	SNV	TM6SF1,missense_variant,p.Pro349Ser,ENST00000379386,;TM6SF1,missense_variant,p.Pro346Ser,ENST00000322019,;TM6SF1,missense_variant,p.Pro315Ser,ENST00000565774,;TM6SF1,3_prime_UTR_variant,,ENST00000379390,;TM6SF1,intron_variant,,ENST00000561551,;HDGFRP3,intron_variant,,ENST00000568294,;HDGFRP3,downstream_gene_variant,,ENST00000299633,;TM6SF1,3_prime_UTR_variant,,ENST00000258909,;TM6SF1,3_prime_UTR_variant,,ENST00000379384,;HDGFRP3,downstream_gene_variant,,ENST00000563790,;	1310	282	225	SUCCESS
ISG20	3669	.	GRCh37	15	89182609	89182609	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	28	51	0	ENST00000306072.5:c.12C>T	p.Ser4=	p.S4=	ENST00000306072	NM_002201.4	4	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10345.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCCGTGA	NONE	.	.	Gene3D:3.30.420.10,hmmpanther:PTHR12801	.	.	ENSP00000306565	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000306072	Transcript	.	.	ENSG00000172183	6130	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ISG20_HUMAN	ISG20	HGNC	.	.	UPI000006FE4D	SNV	ISG20,synonymous_variant,p.%3D,ENST00000559876,;ISG20,synonymous_variant,p.%3D,ENST00000379224,;ISG20,synonymous_variant,p.%3D,ENST00000306072,;ISG20,synonymous_variant,p.%3D,ENST00000560741,;ISG20,downstream_gene_variant,,ENST00000558992,;ISG20,non_coding_transcript_exon_variant,,ENST00000558942,;ISG20,non_coding_transcript_exon_variant,,ENST00000560573,;	370	51	39	SUCCESS
HSD3B7	80270	.	GRCh37	16	30997473	30997473	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	35	187	0	ENST00000297679.5:c.270del	p.Asp91ThrfsTer22	p.D91Tfs*22	ENST00000297679	NM_025193.3	90	gtA/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS10698.1	270	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGGTAGACGT	NONE	.	.	hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF290,Gene3D:3.40.50.720,Pfam_domain:PF01073,Superfamily_domains:SSF51735	.	.	ENSP00000297679	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000297679	Transcript	.	.	ENSG00000099377	18324	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	3BHS7_HUMAN	HSD3B7	HGNC	I3L2H6_HUMAN	.	UPI000007399B	deletion	HSD3B7,frameshift_variant,p.Asp91ThrfsTer22,ENST00000353250,;HSD3B7,frameshift_variant,p.Asp91ThrfsTer22,ENST00000262520,;AC135048.1,frameshift_variant,p.Tyr21ThrfsTer151,ENST00000602217,;HSD3B7,frameshift_variant,p.Asp91ThrfsTer22,ENST00000297679,;HSD3B7,frameshift_variant,p.Asp91ThrfsTer22,ENST00000574447,;HSD3B7,frameshift_variant,p.Asp132ThrfsTer22,ENST00000562932,;STX1B,downstream_gene_variant,,ENST00000569638,;SETD1A,downstream_gene_variant,,ENST00000262519,;STX1B,downstream_gene_variant,,ENST00000215095,;	363	187	176	SUCCESS
PKD1L3	342372	.	GRCh37	16	71967898	71967898	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs745527563	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	43	157	0	ENST00000534738.1:n.4740A>T		p.*1580*	ENST00000534738				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCTGCTGA	NONE	.	2796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745527563	.	PASS	ENST00000573861	Transcript	.	.	ENSG00000263320	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-498D10.6	Clone_based_vega_gene	.	.	.	SNV	IST1,downstream_gene_variant,,ENST00000378798,;IST1,downstream_gene_variant,,ENST00000329908,;IST1,downstream_gene_variant,,ENST00000378799,;RP11-498D10.6,downstream_gene_variant,,ENST00000573861,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000534738,;PKD1L3,non_coding_transcript_exon_variant,,ENST00000335106,;IST1,downstream_gene_variant,,ENST00000439924,;	.	157	126	SUCCESS
ANKRD11	29123	.	GRCh37	16	89350329	89350329	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	70	0	ENST00000301030.4:c.2621C>T	p.Ala874Val	p.A874V	ENST00000301030	NM_001256183.1	874	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32513.1	2621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGGCCACA	NONE	.	.	hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Ala874Val,ENST00000378330,;ANKRD11,missense_variant,p.Ala874Val,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	3082	70	77	SUCCESS
SPATA33	124045	.	GRCh37	16	89724816	89724816	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	22	67	0	ENST00000301031.4:c.195A>T	p.Ala65=	p.A65=	ENST00000301031	NM_001271908.1	65	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10983.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCAGCTTC	NONE	.	.	.	.	.	ENSP00000301031	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000301031	Transcript	.	.	ENSG00000167523	26463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT33_HUMAN	SPATA33	HGNC	.	.	UPI000007159D	SNV	SPATA33,synonymous_variant,p.%3D,ENST00000301031,;SPATA33,synonymous_variant,p.%3D,ENST00000566204,;SPATA33,synonymous_variant,p.%3D,ENST00000579310,;SPATA33,synonymous_variant,p.%3D,ENST00000568929,;SPATA33,3_prime_UTR_variant,,ENST00000564238,;CHMP1A,upstream_gene_variant,,ENST00000397901,;CHMP1A,upstream_gene_variant,,ENST00000550102,;CHMP1A,upstream_gene_variant,,ENST00000535997,;CHMP1A,upstream_gene_variant,,ENST00000253475,;SPATA33,upstream_gene_variant,,ENST00000566857,;CHMP1A,upstream_gene_variant,,ENST00000547614,;SPATA33,3_prime_UTR_variant,,ENST00000567827,;SPATA33,3_prime_UTR_variant,,ENST00000457689,;SPATA33,intron_variant,,ENST00000565890,;CHMP1A,upstream_gene_variant,,ENST00000549328,;CHMP1A,upstream_gene_variant,,ENST00000550872,;CHMP1A,upstream_gene_variant,,ENST00000551981,;	195	67	36	SUCCESS
PIPOX	51268	.	GRCh37	17	27380528	27380528	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	96	173	0	ENST00000323372.4:c.575G>A	p.Ser192Asn	p.S192N	ENST00000323372	NM_016518.2	192	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS11248.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCTACC	NONE	.	.	hmmpanther:PTHR10961:SF7,hmmpanther:PTHR10961,Gene3D:3.50.50.60,Pfam_domain:PF01266,TIGRFAM_domain:TIGR01377,Superfamily_domains:SSF51905	.	.	ENSP00000317721	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000323372	Transcript	.	.	ENSG00000179761	17804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.39)	.	SOX_HUMAN	PIPOX	HGNC	K7EK30_HUMAN,K7EJU8_HUMAN	.	UPI00001410B0	SNV	PIPOX,missense_variant,p.Ser192Asn,ENST00000323372,;PIPOX,missense_variant,p.Ser126Asn,ENST00000469082,;PIPOX,missense_variant,p.Ser126Asn,ENST00000466889,;PIPOX,non_coding_transcript_exon_variant,,ENST00000580241,;PIPOX,non_coding_transcript_exon_variant,,ENST00000419875,;PIPOX,non_coding_transcript_exon_variant,,ENST00000484308,;PIPOX,non_coding_transcript_exon_variant,,ENST00000583215,;PIPOX,downstream_gene_variant,,ENST00000580383,;PIPOX,downstream_gene_variant,,ENST00000577182,;	901	173	202	SUCCESS
KANSL1	284058	.	GRCh37	17	44109414	44109414	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	62	0	ENST00000574590.1:c.3089A>G	p.Gln1030Arg	p.Q1030R	ENST00000574590	NM_001193465.1	1030	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS11503.1	3089	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCTGTTCA	NONE	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443,Pfam_domain:PF15275	.	.	ENSP00000262419	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.49)	.	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	SNV	KANSL1,missense_variant,p.Gln324Arg,ENST00000393476,;KANSL1,missense_variant,p.Gln1030Arg,ENST00000574590,;KANSL1,missense_variant,p.Gln966Arg,ENST00000575318,;KANSL1,missense_variant,p.Gln1030Arg,ENST00000432791,;KANSL1,missense_variant,p.Gln1030Arg,ENST00000262419,;KANSL1,missense_variant,p.Gln1030Arg,ENST00000572904,;MAPT,downstream_gene_variant,,ENST00000340799,;MAPT,downstream_gene_variant,,ENST00000262410,;MAPT,downstream_gene_variant,,ENST00000446361,;MAPT,downstream_gene_variant,,ENST00000535772,;MAPT,downstream_gene_variant,,ENST00000351559,;MAPT,downstream_gene_variant,,ENST00000344290,;MAPT,downstream_gene_variant,,ENST00000347967,;RP11-669E14.6,upstream_gene_variant,,ENST00000570454,;KANSL1,splice_region_variant,,ENST00000572218,;KANSL1,splice_region_variant,,ENST00000576870,;KANSL1,non_coding_transcript_exon_variant,,ENST00000574963,;KANSL1,downstream_gene_variant,,ENST00000576137,;KANSL1,downstream_gene_variant,,ENST00000573682,;	3560	62	82	SUCCESS
NUP88	4927	.	GRCh37	17	5290351	5290351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	41	67	0	ENST00000573584.1:c.1996C>A	p.Gln666Lys	p.Q666K	ENST00000573584	NM_002532.4	666	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS11070.1	1996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGTAATT	NONE	.	.	hmmpanther:PTHR13257:SF0,hmmpanther:PTHR13257,Pfam_domain:PF10168	.	.	ENSP00000458954	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000573584	Transcript	.	.	ENSG00000108559	8067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	.	tolerated(0.2)	.	NUP88_HUMAN	NUP88	HGNC	I3L245_HUMAN	.	UPI0000130894	SNV	NUP88,missense_variant,p.Gln621Lys,ENST00000225696,;NUP88,missense_variant,p.Gln666Lys,ENST00000573584,;RABEP1,downstream_gene_variant,,ENST00000408982,;RABEP1,downstream_gene_variant,,ENST00000262477,;RABEP1,downstream_gene_variant,,ENST00000341923,;RABEP1,downstream_gene_variant,,ENST00000537505,;RABEP1,downstream_gene_variant,,ENST00000546142,;NUP88,upstream_gene_variant,,ENST00000573169,;NUP88,3_prime_UTR_variant,,ENST00000576708,;NUP88,non_coding_transcript_exon_variant,,ENST00000574855,;NUP88,non_coding_transcript_exon_variant,,ENST00000574087,;NUP88,downstream_gene_variant,,ENST00000574867,;NUP88,downstream_gene_variant,,ENST00000576862,;NUP88,downstream_gene_variant,,ENST00000570937,;NUP88,downstream_gene_variant,,ENST00000575976,;	2506	67	44	SUCCESS
OTOP2	92736	.	GRCh37	17	72926856	72926856	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767767234	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	61	114	0	ENST00000331427.4:c.1126G>C	p.Ala376Pro	p.A376P	ENST00000331427	NM_178160.2	376	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS11708.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCGCCCTG	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR21522:SF35,hmmpanther:PTHR21522,Pfam_domain:PF03189	.	.	ENSP00000332528	.	6/7	.	.	.	.	.	.	.	.	rs767767234	6/7	PASS	ENST00000331427	Transcript	.	.	ENSG00000183034	19657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	OTOP2_HUMAN	OTOP2	HGNC	.	.	UPI000018F613	SNV	OTOP2,missense_variant,p.Ala376Pro,ENST00000580223,;OTOP2,missense_variant,p.Ala376Pro,ENST00000331427,;OTOP2,downstream_gene_variant,,ENST00000584711,;OTOP3,upstream_gene_variant,,ENST00000580749,;	1218	114	120	SUCCESS
TP53	7157	.	GRCh37	17	7577538	7577538	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11540652	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	41	91	0	ENST00000269305.4:c.743G>A	p.Arg248Gln	p.R248Q	ENST00000269305	NM_001126112.2	248	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11118.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GCCTCCGGTTC	SITE|p.R248Q|c.743G>A|113,SITE|p.R248Q|c.743G>A|633,SITE|p.R248Q|c.743G>A|64,SITE|p.R248Q|c.743G>A|42,SITE|p.R155Q|c.464G>A|114,SITE|p.R248Q|c.743G>A|110,CODON|p.0?|c.1_1182del1182|6,CODON|p.R248Q|c.743_744GG>AA|5,CODON|p.R248R|c.744G>A|5,CODON|p.R248W|c.741_742CC>TT|15,CODON|p.R248L|c.743G>T|7,CODON|p.R248L|c.743G>T|12,CODON|p.R155L|c.464G>T|12,CODON|p.R155P|c.464G>C|5,CODON|p.R248P|c.743G>C|17,CODON|p.R248L|c.743G>T|12,CODON|p.R248P|c.743G>C|5,CODON|p.R248L|c.743G>T|74,CODON|p.R248P|c.743G>C|5,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4,BUFFER|p.G245G|c.735C>T|5,BUFFER|p.G245D|c.734G>A|10,BUFFER|p.G245V|c.734G>T|3,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245A|c.734G>C|8,BUFFER|p.G152D|c.455G>A|23,BUFFER|p.G152V|c.455G>T|15,BUFFER|p.G245V|c.734G>T|10,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245D|c.734G>A|119,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245D|c.734G>A|7,BUFFER|p.G245V|c.734G>T|69,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs11540652,CM920675,TP53_g.13380G>A,TP53_g.13380G>C,TP53_g.13380G>T,TP53_g.13380del,COSM10662,COSM11491,COSM6549,COSM46135,COSM340105,COSM99602,COSM241995,COSM99020,COSM241994,COSM340106,COSM3356964,COSM3378346,COSM1640830,COSM1646857,COSM1646858,COSM99021,COSM241996,COSM340107	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25032700,20377871,18798306,15450681,25105660,21264207	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg248Gln,ENST00000413465,;TP53,missense_variant,p.Arg248Gln,ENST00000420246,;TP53,missense_variant,p.Arg248Gln,ENST00000269305,;TP53,missense_variant,p.Arg116Gln,ENST00000509690,;TP53,missense_variant,p.Arg248Gln,ENST00000359597,;TP53,missense_variant,p.Arg155Gln,ENST00000514944,;TP53,missense_variant,p.Arg248Gln,ENST00000445888,;TP53,missense_variant,p.Arg248Gln,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	933	91	43	SUCCESS
B4GALT6	9331	.	GRCh37	18	29264480	29264480	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	29	0	ENST00000306851.5:c.-91T>A		p.*31*	ENST00000306851	NM_004775.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11900.1	.	MUTECT|MUSE	.	CTGAGAACCCC	NONE	.	.	.	.	.	ENSP00000306459	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000306851	Transcript	.	.	ENSG00000118276	929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B4GT6_HUMAN	B4GALT6	HGNC	Q6NT00_HUMAN,J3QQY9_HUMAN	.	UPI0000126721	SNV	B4GALT6,5_prime_UTR_variant,,ENST00000237019,;B4GALT6,5_prime_UTR_variant,,ENST00000306851,;B4GALT6,intron_variant,,ENST00000579372,;B4GALT6,upstream_gene_variant,,ENST00000383131,;RP11-549B18.1,upstream_gene_variant,,ENST00000565978,;	207	29	11	SUCCESS
ST8SIA5	29906	.	GRCh37	18	44336535	44336535	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	16	43	0	ENST00000315087.7:c.-64C>T		p.*22*	ENST00000315087	NM_013305.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11930.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCCGGGGCC	NONE	.	.	.	.	.	ENSP00000321343	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000315087	Transcript	.	.	ENSG00000101638	17827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA8E_HUMAN	ST8SIA5	HGNC	B3KSU2_HUMAN	.	UPI000013C72F	SNV	ST8SIA5,5_prime_UTR_variant,,ENST00000538168,;ST8SIA5,5_prime_UTR_variant,,ENST00000315087,;ST8SIA5,5_prime_UTR_variant,,ENST00000536490,;RP11-742D12.2,non_coding_transcript_exon_variant,,ENST00000602329,;RP11-742D12.2,upstream_gene_variant,,ENST00000602333,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000588155,;ST8SIA5,intron_variant,,ENST00000591375,;ST8SIA5,intron_variant,,ENST00000590488,;	598	43	25	SUCCESS
SOGA2	0	.	GRCh37	18	8783884	8783884	+	synonymous_variant	Silent	SNP	C	C	T	rs746334203	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	102	0	ENST00000306329.11:c.1854C>T	p.Ser618=	p.S618=	ENST00000306329		618	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11841.1	774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCATTCC	BUFFER|p.A256T|c.766G>A|3	.	.	hmmpanther:PTHR15742:SF3,hmmpanther:PTHR15742	.	.	ENSP00000352927	.	6/17	.	.	.	.	.	.	.	.	rs746334203	6/17	PASS	ENST00000359865	Transcript	.	.	ENSG00000168502	29121	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA2_HUMAN	SOGA2	HGNC	J3QLE1_HUMAN	.	UPI0000456B5B	SNV	SOGA2,synonymous_variant,p.%3D,ENST00000517570,;SOGA2,synonymous_variant,p.%3D,ENST00000400050,;SOGA2,synonymous_variant,p.%3D,ENST00000306329,;SOGA2,synonymous_variant,p.%3D,ENST00000359865,;SOGA2,5_prime_UTR_variant,,ENST00000306285,;SOGA2,upstream_gene_variant,,ENST00000521018,;SOGA2,upstream_gene_variant,,ENST00000523811,;SOGA2,synonymous_variant,p.%3D,ENST00000520495,;SOGA2,upstream_gene_variant,,ENST00000517554,;	916	102	60	SUCCESS
DNM2	1785	.	GRCh37	19	10906053	10906053	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	27	51	0	ENST00000355667.6:c.1134G>T	p.Glu378Asp	p.E378D	ENST00000355667	NM_001005360.2	378	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS45969.1	1134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAGTTTGA	NONE	.	.	Pfam_domain:PF01031,hmmpanther:PTHR11566:SF23,hmmpanther:PTHR11566	.	.	ENSP00000373905	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000389253	Transcript	1	.	ENSG00000079805	2974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.111)	.	tolerated(0.33)	.	DYN2_HUMAN	DNM2	HGNC	Q8N1K8_HUMAN,K7EPK9_HUMAN	.	UPI000049A626	SNV	DNM2,missense_variant,p.Glu378Asp,ENST00000355667,;DNM2,missense_variant,p.Glu378Asp,ENST00000359692,;DNM2,missense_variant,p.Glu378Asp,ENST00000314646,;DNM2,missense_variant,p.Glu130Asp,ENST00000587830,;DNM2,missense_variant,p.Glu378Asp,ENST00000585892,;DNM2,missense_variant,p.Glu378Asp,ENST00000408974,;DNM2,missense_variant,p.Glu378Asp,ENST00000389253,;DNM2,downstream_gene_variant,,ENST00000587485,;DNM2,non_coding_transcript_exon_variant,,ENST00000591701,;DNM2,upstream_gene_variant,,ENST00000593220,;DNM2,upstream_gene_variant,,ENST00000587329,;	1246	51	42	SUCCESS
AGL	178	.	GRCh37	1	100316444	100316444	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	44	0	ENST00000294724.4:c.-79A>G		p.*27*	ENST00000294724	NM_000028.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS759.1	.	MUTECT|MUSE	.	AACACACTTCG	NONE	.	.	.	.	.	ENSP00000294724	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000294724	Transcript	.	.	ENSG00000162688	321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GDE_HUMAN	AGL	HGNC	G1UI17_HUMAN	.	UPI00001694CB	SNV	AGL,5_prime_UTR_variant,,ENST00000294724,;AGL,intron_variant,,ENST00000370163,;AGL,intron_variant,,ENST00000370165,;AGL,intron_variant,,ENST00000361915,;AGL,upstream_gene_variant,,ENST00000361302,;AGL,upstream_gene_variant,,ENST00000370161,;	400	44	38	SUCCESS
CELSR2	1952	.	GRCh37	1	109794350	109794350	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	133	0	ENST00000271332.3:c.1649A>G	p.Asp550Gly	p.D550G	ENST00000271332	NM_001408.2	550	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS796.1	1649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGACTTCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000271332	.	1/34	.	.	.	.	.	.	.	.	.	1/34	PASS	ENST00000271332	Transcript	.	.	ENSG00000143126	3231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.24)	.	CELR2_HUMAN	CELSR2	HGNC	.	.	UPI00000015B6	SNV	CELSR2,missense_variant,p.Asp550Gly,ENST00000271332,;	1710	133	65	SUCCESS
PRAMEF4	400735	.	GRCh37	1	12942131	12942131	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1226511463	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	8	20	0	ENST00000235349.5:c.419G>C	p.Cys140Ser	p.C140S	ENST00000235349	NM_001009611.2	140	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS30592.1	419	RADIA|MUTECT|MUSE	.	TTGGACAGTCC	BUFFER|p.E138Q|c.412G>C|5	.	.	PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19	.	.	ENSP00000235349	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000235349	Transcript	.	.	ENSG00000243073	31971	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.065)	.	tolerated(0.8)	.	PRAM4_HUMAN	PRAMEF4	HGNC	.	.	UPI00001C1DA0	SNV	PRAMEF4,missense_variant,p.Cys140Ser,ENST00000235349,;	490	20	12	SUCCESS
LCE1F	353137	.	GRCh37	1	152748923	152748923	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	533	106	446	0	ENST00000334371.2:c.76A>G	p.Thr26Ala	p.T26A	ENST00000334371	NM_178354.2	26	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS1023.1	76	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCACACCG	BUFFER|p.P27P|c.81G>A|6	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000334187	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334371	Transcript	.	.	ENSG00000240386	29467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.13)	.	LCE1F_HUMAN	LCE1F	HGNC	.	.	UPI0000192764	SNV	LCE1F,missense_variant,p.Thr26Ala,ENST00000334371,;	76	446	639	SUCCESS
PRRX1	5396	.	GRCh37	1	170688864	170688864	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	43	0	ENST00000239461.6:c.242-3C>A		p.X81_splice	ENST00000239461	NM_022716.2	81		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1290.1	.	RADIA|MUSE|VARSCANS	.	TATTCCAGATG	NONE	.	.	.	.	.	ENSP00000239461	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000239461	Transcript	.	.	ENSG00000116132	9142	.	.	LOW	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRRX1_HUMAN	PRRX1	HGNC	.	.	UPI0000131D11	SNV	PRRX1,splice_region_variant,,ENST00000497230,;PRRX1,splice_region_variant,,ENST00000239461,;PRRX1,splice_region_variant,,ENST00000367760,;PRRX1,splice_region_variant,,ENST00000553786,;PRRX1,upstream_gene_variant,,ENST00000495280,;PRRX1,upstream_gene_variant,,ENST00000476867,;	.	43	62	SUCCESS
SLC30A1	7779	.	GRCh37	1	211749002	211749002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	115	102	0	ENST00000367001.4:c.1252C>A	p.Gln418Lys	p.Q418K	ENST00000367001	NM_021194.2	418	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS1499.1	1252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGAATGG	NONE	.	.	hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Pfam_domain:PF01545,Superfamily_domains:SSF160240	.	.	ENSP00000355968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367001	Transcript	.	.	ENSG00000170385	11012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZNT1_HUMAN	SLC30A1	HGNC	Q96KD7_HUMAN	.	UPI000013EBA0	SNV	SLC30A1,missense_variant,p.Gln418Lys,ENST00000367001,;	1382	103	120	SUCCESS
OBSCN	84033	.	GRCh37	1	228494331	228494331	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767373154	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	47	86	0	ENST00000422127.1:c.11918C>T	p.Thr3973Ile	p.T3973I	ENST00000422127	NM_001098623.2	3973	aCt/aTt	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS59204.1	14789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACTGTCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF17,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000455507	.	55/116	.	.	.	.	.	.	.	.	rs767373154	55/116	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.285)	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Thr1607Ile,ENST00000366707,;OBSCN,missense_variant,p.Thr1092Ile,ENST00000366709,;OBSCN,missense_variant,p.Thr3973Ile,ENST00000284548,;OBSCN,missense_variant,p.Thr4930Ile,ENST00000570156,;OBSCN,missense_variant,p.Thr3973Ile,ENST00000422127,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000359599,;RP5-1139B12.4,upstream_gene_variant,,ENST00000602778,;OBSCN,downstream_gene_variant,,ENST00000602685,;OBSCN,downstream_gene_variant,,ENST00000602832,;	14863	86	85	SUCCESS
ZBTB8OS	339487	.	GRCh37	1	33087489	33087489	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	62	0	ENST00000468695.1:c.514G>T	p.Glu172Ter	p.E172*	ENST00000468695	NM_178547.2	172	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS365.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCCGGGT	NONE	.	.	hmmpanther:PTHR12682:SF8,hmmpanther:PTHR12682,Pfam_domain:PF01951,Gene3D:3.55.10.10,Superfamily_domains:SSF69819	.	.	ENSP00000417677	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000468695	Transcript	.	.	ENSG00000176261	24094	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZBTB8OS	HGNC	D3DPQ2_HUMAN,A8K0B5_HUMAN	.	UPI000007447D	SNV	ZBTB8OS,stop_gained,p.Glu172Ter,ENST00000468695,;ZBTB8OS,3_prime_UTR_variant,,ENST00000436661,;ZBTB8OS,3_prime_UTR_variant,,ENST00000373501,;ZBTB8OS,intron_variant,,ENST00000341885,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000373506,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000492007,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000498691,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000476493,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000465588,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000467652,;ZBTB8OS,non_coding_transcript_exon_variant,,ENST00000478041,;ZBTB8OS,3_prime_UTR_variant,,ENST00000473294,;	533	62	41	SUCCESS
SERBP1	26135	.	GRCh37	1	67895954	67895954	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	44	165	0	ENST00000370995.2:c.30C>A	p.Gly10=	p.G10=	ENST00000370995		10	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30746.1	30	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCAGCCGAA	NONE	.	.	hmmpanther:PTHR12299:SF22,hmmpanther:PTHR12299	.	.	ENSP00000360034	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000370995	Transcript	.	.	ENSG00000142864	17860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAIRB_HUMAN	SERBP1	HGNC	.	.	UPI0000036970	SNV	SERBP1,synonymous_variant,p.%3D,ENST00000370994,;SERBP1,synonymous_variant,p.%3D,ENST00000361219,;SERBP1,synonymous_variant,p.%3D,ENST00000370990,;SERBP1,synonymous_variant,p.%3D,ENST00000370995,;SERBP1,upstream_gene_variant,,ENST00000490406,;	116	165	120	SUCCESS
PDRG1	81572	.	GRCh37	20	30538175	30538175	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1199326281	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	40	62	0	ENST00000202017.4:c.103A>G	p.Thr35Ala	p.T35A	ENST00000202017	NM_030815.2	35	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS13194.1	103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGTGTCCA	NONE	.	.	hmmpanther:PTHR21162:SF0,hmmpanther:PTHR21162,Pfam_domain:PF01920,Superfamily_domains:SSF46579	.	.	ENSP00000202017	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000202017	Transcript	.	.	ENSG00000088356	16119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.7)	.	PDRG1_HUMAN	PDRG1	HGNC	.	.	UPI0000034E24	SNV	PDRG1,missense_variant,p.Thr35Ala,ENST00000202017,;	234	62	60	SUCCESS
SLA2	84174	.	GRCh37	20	35269783	35269783	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	44	0	ENST00000262866.4:c.-43-2A>T		p.X15_splice	ENST00000262866	NM_175077.2	15		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTGAAAG	NONE	.	.	.	.	.	ENSP00000262866	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262866	Transcript	.	.	ENSG00000101082	17329	.	.	HIGH	1/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLAP2_HUMAN	SLA2	HGNC	.	.	UPI000004B142	SNV	SLA2,splice_acceptor_variant,,ENST00000262866,;SLA2,splice_acceptor_variant,,ENST00000360672,;	.	44	45	SUCCESS
MROH8	140699	.	GRCh37	20	35769604	35769604	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	113	0	ENST00000343811.4:c.1530G>A	p.Leu510=	p.L510=	ENST00000343811	NM_152503.4	510	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	.	1530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGCAGTAA	NONE	.	.	hmmpanther:PTHR23120:SF4,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000339971	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000343811	Transcript	.	.	ENSG00000101353	16125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MROH8	HGNC	Q5JYR0_HUMAN,Q5JYQ9_HUMAN	.	UPI0000E5A31D	SNV	MROH8,synonymous_variant,p.%3D,ENST00000421643,;MROH8,synonymous_variant,p.%3D,ENST00000343811,;MROH8,synonymous_variant,p.%3D,ENST00000441008,;MROH8,synonymous_variant,p.%3D,ENST00000400441,;MROH8,synonymous_variant,p.%3D,ENST00000400440,;MROH8,intron_variant,,ENST00000217333,;MROH8,intron_variant,,ENST00000417458,;	1529	113	80	SUCCESS
ZSWIM1	90204	.	GRCh37	20	44511960	44511960	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	62	0	ENST00000372520.1:c.729C>A	p.His243Gln	p.H243Q	ENST00000372520		243	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS13382.2	729	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCACCGCTG	NONE	.	.	hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0	.	.	ENSP00000361601	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372523	Transcript	.	.	ENSG00000168612	16155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.05)	.	ZSWM1_HUMAN	ZSWIM1	HGNC	A8K5I9_HUMAN	.	UPI0000470896	SNV	ZSWIM1,missense_variant,p.His243Gln,ENST00000372520,;ZSWIM1,missense_variant,p.His243Gln,ENST00000372523,;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,;ZSWIM3,downstream_gene_variant,,ENST00000255152,;	824	62	35	SUCCESS
NCOA3	8202	.	GRCh37	20	46265070	46265070	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	55	120	0	ENST00000371998.3:c.1940A>G	p.Lys647Arg	p.K647R	ENST00000371998		647	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS13407.1	1940	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAAAGAAT	NONE	.	.	hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Pfam_domain:PF08832,PIRSF_domain:PIRSF038181	.	.	ENSP00000361066	.	12/23	.	.	.	.	.	.	.	.	.	12/23	PASS	ENST00000371998	Transcript	.	.	ENSG00000124151	7670	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.12)	.	NCOA3_HUMAN	NCOA3	HGNC	Q569F6_HUMAN,B4DYT5_HUMAN	.	UPI000012FE45	SNV	NCOA3,missense_variant,p.Lys657Arg,ENST00000371997,;NCOA3,missense_variant,p.Lys647Arg,ENST00000372004,;NCOA3,missense_variant,p.Lys657Arg,ENST00000341724,;NCOA3,missense_variant,p.Lys647Arg,ENST00000371998,;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;	2131	120	88	SUCCESS
PRNP	5621	.	GRCh37	20	4680289	4680289	+	synonymous_variant	Silent	SNP	C	C	T	rs764920854	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	102	0	ENST00000379440.4:c.423C>T	p.Phe141=	p.F141=	ENST00000379440	NM_001080121.1	141	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS13080.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCGGCAG	NONE	byFrequency	.	Superfamily_domains:SSF54098,SMART_domains:SM00157,Gene3D:1.10.790.10,Pfam_domain:PF00377,hmmpanther:PTHR11522:SF0,hmmpanther:PTHR11522	.	.	ENSP00000368752	.	2/2	.	.	.	.	.	.	.	.	rs764920854,COSM1027561	2/2	PASS	ENST00000379440	Transcript	1	.	ENSG00000171867	9449	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PRIO_HUMAN	PRNP	HGNC	Q86XR1_HUMAN,Q6SES1_HUMAN,Q53YK7_HUMAN,O75942_HUMAN,A2A2V1_HUMAN	.	UPI0000033C27	SNV	PRNP,synonymous_variant,p.%3D,ENST00000424424,;PRNP,synonymous_variant,p.%3D,ENST00000430350,;PRNP,synonymous_variant,p.%3D,ENST00000379440,;PRNP,synonymous_variant,p.%3D,ENST00000457586,;	710	102	85	SUCCESS
ZNF831	128611	.	GRCh37	20	57829551	57829551	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs760005581	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	58	218	0	ENST00000371030.2:c.4787A>G	p.Tyr1596Cys	p.Y1596C	ENST00000371030	NM_178457.2	1596	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS42894.1	4787	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTATGGGT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	5/5	.	.	.	.	.	.	.	.	rs760005581	5/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.07)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Tyr1596Cys,ENST00000371030,;	4787	218	180	SUCCESS
CDH4	1002	.	GRCh37	20	60318687	60318687	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	26	135	1	ENST00000360469.5:c.238G>T	p.Gly80Trp	p.G80W	ENST00000360469	NM_001794.3	80	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS13488.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTGGGGCA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM01055,Pfam_domain:PF08758,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81	.	.	ENSP00000353656	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000360469	Transcript	.	.	ENSG00000179242	1763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.823)	.	deleterious(0.02)	.	CADH4_HUMAN	CDH4	HGNC	Q8ND09_HUMAN	.	UPI000015FE86	SNV	CDH4,missense_variant,p.Gly6Trp,ENST00000543233,;CDH4,missense_variant,p.Gly80Trp,ENST00000360469,;RP11-429E11.2,intron_variant,,ENST00000442888,;RP11-429E11.2,intron_variant,,ENST00000447909,;	326	136	98	SUCCESS
GGT1	2678	.	GRCh37	22	25023302	25023302	+	intron_variant	Intron	SNP	G	G	A	rs538532150	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	52	0	ENST00000248923.4:c.1021-97G>A		p.*341*	ENST00000248923	NM_013430.2			0	.	T:0.0076	.	T:0.0014	.	A	.	protein_coding	YES	CCDS42992.1	.	MUTECT|MUSE	.	AGAGGGTTGCG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000383232	T:0	.	.	.	.	.	.	.	.	.	rs538532150	.	PASS	ENST00000400382	Transcript	.	T:0.0022	ENSG00000100031	4250	.	.	MODIFIER	11/15	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	GGT1_HUMAN	GGT1	HGNC	Q9UEN9_HUMAN,Q9UEN8_HUMAN,Q6NZY2_HUMAN,O76033_HUMAN,O75693_HUMAN,E9PHP2_HUMAN,E7EVF8_HUMAN,E7ETU4_HUMAN,E7ETR7_HUMAN,E7ETN1_HUMAN,E7ETJ6_HUMAN,E7ET76_HUMAN,E7ESL5_HUMAN,E7ERN9_HUMAN,E7ENJ5_HUMAN,E7EM62_HUMAN,C9JIY6_HUMAN,C9JGF3_HUMAN	.	UPI000007080C	SNV	GGT1,5_prime_UTR_variant,,ENST00000403838,;GGT1,intron_variant,,ENST00000404532,;GGT1,intron_variant,,ENST00000400380,;GGT1,intron_variant,,ENST00000412658,;GGT1,intron_variant,,ENST00000406383,;GGT1,intron_variant,,ENST00000400383,;GGT1,intron_variant,,ENST00000248923,;GGT1,intron_variant,,ENST00000401885,;GGT1,intron_variant,,ENST00000400382,;GGT1,upstream_gene_variant,,ENST00000404920,;GGT1,upstream_gene_variant,,ENST00000404223,;GGT1,intron_variant,,ENST00000466310,;GGT1,upstream_gene_variant,,ENST00000490087,;GGT1,intron_variant,,ENST00000425895,;	.	52	26	SUCCESS
SULT1C3	442038	.	GRCh37	2	108881765	108881765	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	56	137	1	ENST00000329106.2:c.873G>A	p.Lys291=	p.K291=	ENST00000329106	NM_001008743.1	291	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS33267.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGAAGAT	NONE	.	.	hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF39,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000333310	.	7/7	.	.	.	.	.	.	.	.	COSM3565061	7/7	PASS	ENST00000329106	Transcript	.	.	ENSG00000196228	33543	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ST1C3_HUMAN	SULT1C3	HGNC	.	.	UPI000004348F	SNV	SULT1C3,synonymous_variant,p.%3D,ENST00000329106,;SULT1C3,downstream_gene_variant,,ENST00000376700,;	873	138	171	SUCCESS
XIRP2	129446	.	GRCh37	2	168104195	168104195	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	59	215	0	ENST00000409195.1:c.6293C>T	p.Ser2098Leu	p.S2098L	ENST00000409195	NM_152381.5	2098	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS42769.1	6293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATCAGACA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.818)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Ser1876Leu,ENST00000409273,;XIRP2,missense_variant,p.Ser2098Leu,ENST00000409195,;XIRP2,missense_variant,p.Ser2098Leu,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	6382	215	206	SUCCESS
COL3A1	1281	.	GRCh37	2	189871670	189871670	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	88	170	0	ENST00000304636.3:c.3209C>A	p.Ala1070Asp	p.A1070D	ENST00000304636	NM_000090.3	1070	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS2297.1	3209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCTGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	.	.	ENSP00000304408	.	44/51	.	.	.	.	.	.	.	.	.	44/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,missense_variant,p.Ala1070Asp,ENST00000304636,;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,;	3379	170	166	SUCCESS
OSR1	130497	.	GRCh37	2	19553505	19553505	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	14	124	0	ENST00000272223.2:c.62A>G	p.Tyr21Cys	p.Y21C	ENST00000272223	NM_145260.2	21	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS1694.1	62	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTAGTTG	NONE	.	.	hmmpanther:PTHR14196,hmmpanther:PTHR14196:SF5	.	.	ENSP00000441801	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000536433	Transcript	.	.	ENSG00000143867	8111	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.111)	.	deleterious_low_confidence(0.05)	.	OSR1_HUMAN	OSR1	HGNC	.	.	UPI000006EA6A	SNV	OSR1,missense_variant,p.Tyr21Cys,ENST00000272223,;OSR1,missense_variant,p.Tyr21Cys,ENST00000536433,;OSR1,downstream_gene_variant,,ENST00000498844,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;	3173	124	116	SUCCESS
PTMA	5757	.	GRCh37	2	232577559	232577559	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	rs762198164	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	40	0	ENST00000341369.7:c.334T>C	p.Ter112GlnextTer9	p.*112Qext*9	ENST00000341369	NM_001099285.1	112	Tag/Cag	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS42833.1	334	MUTECT|MUSE	.	ATGACTAGACA	NONE	byFrequency	.	.	.	.	ENSP00000344547	.	5/5	.	.	.	.	.	.	.	.	rs762198164,COSM573838	5/5	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,stop_lost,p.Ter137GlnextTer?,ENST00000410064,;PTMA,stop_lost,p.Ter112GlnextTer9,ENST00000341369,;PTMA,stop_lost,p.Ter149GlnextTer9,ENST00000412128,;PTMA,stop_lost,p.Ter111GlnextTer9,ENST00000409115,;PTMA,stop_lost,p.Ter132GlnextTer9,ENST00000409321,;PTMA,stop_lost,p.Ter108GlnextTer9,ENST00000409683,;PTMA,downstream_gene_variant,,ENST00000440384,;PTMA,non_coding_transcript_exon_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;	525	40	42	SUCCESS
SENP7	57337	.	GRCh37	3	101136470	101136470	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	31	85	0	ENST00000394095.2:c.449A>G	p.Glu150Gly	p.E150G	ENST00000394095	NM_020654.3	150	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS2941.2	449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTTCTAAT	NONE	.	.	hmmpanther:PTHR12438,hmmpanther:PTHR12438:SF3	.	.	ENSP00000377655	.	5/24	.	.	.	.	.	.	.	.	.	5/24	PASS	ENST00000394095	Transcript	.	.	ENSG00000138468	30402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	tolerated(0.11)	.	SENP7_HUMAN	SENP7	HGNC	.	.	UPI0000E56ED1	SNV	SENP7,missense_variant,p.Glu150Gly,ENST00000394095,;SENP7,missense_variant,p.Glu150Gly,ENST00000394094,;SENP7,missense_variant,p.Glu117Gly,ENST00000348610,;SENP7,intron_variant,,ENST00000394091,;SENP7,intron_variant,,ENST00000314261,;SENP7,intron_variant,,ENST00000358203,;RP11-144C15.1,downstream_gene_variant,,ENST00000437254,;RP11-144C15.1,downstream_gene_variant,,ENST00000468519,;	503	85	121	SUCCESS
IGSF10	285313	.	GRCh37	3	151161484	151161484	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369808974	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	47	160	0	ENST00000282466.3:c.5251C>T	p.Arg1751Cys	p.R1751C	ENST00000282466	NM_178822.4	1751	Cgt/Tgt	0	T:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS3160.1	5251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACGTCTCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000282466	.	5/6	.	.	.	.	.	.	.	.	rs369808974	5/6	PASS	ENST00000282466	Transcript	.	.	ENSG00000152580	26384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	IGS10_HUMAN	IGSF10	HGNC	.	.	UPI00001D629A	SNV	IGSF10,missense_variant,p.Arg1751Cys,ENST00000282466,;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	5251	160	189	SUCCESS
XIRP1	165904	.	GRCh37	3	39226567	39226567	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs775350289	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	78	0	ENST00000340369.3:c.4370C>A	p.Ala1457Asp	p.A1457D	ENST00000340369	NM_194293.2	1457	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS2683.1	4370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGCCCCT	NONE	.	.	hmmpanther:PTHR22591	.	.	ENSP00000343140	.	2/2	.	.	.	.	.	.	.	.	rs775350289	2/2	PASS	ENST00000340369	Transcript	.	.	ENSG00000168334	14301	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.231)	.	deleterious(0.02)	.	XIRP1_HUMAN	XIRP1	HGNC	.	.	UPI00001BFB06	SNV	XIRP1,missense_variant,p.Ala140Asp,ENST00000421646,;XIRP1,missense_variant,p.Ala1457Asp,ENST00000340369,;XIRP1,3_prime_UTR_variant,,ENST00000396251,;	4599	78	51	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121913403	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	47	169	0	ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS2694.1	110	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTCTGGTG	SITE|p.S37C|c.110C>G|157,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S37A|c.109T>G|67,CODON|p.S37P|c.109T>C|30,CODON|p.S37F|c.110C>T|201,CODON|p.S37Y|c.110C>A|37,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3,BUFFER|p.T40I|c.119C>T|11,BUFFER|p.T41A|c.121A>G|828,BUFFER|p.T41S|c.121A>T|3,BUFFER|p.T41P|c.121A>C|6	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5666,COSM5679,COSM5662	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.986)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser37Cys,ENST00000349496,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000426215,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396185,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396183,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	390	169	110	SUCCESS
BSN	8927	.	GRCh37	3	49691439	49691439	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	61	0	ENST00000296452.4:c.4450T>C	p.Ser1484Pro	p.S1484P	ENST00000296452	NM_003458.3	1484	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2800.1	4450	MUTECT|MUSE	.	CGTCTTCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113	.	.	ENSP00000296452	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000296452	Transcript	.	.	ENSG00000164061	1117	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	BSN_HUMAN	BSN	HGNC	.	.	UPI000013E33C	SNV	BSN,missense_variant,p.Ser1484Pro,ENST00000296452,;BSN,downstream_gene_variant,,ENST00000467456,;	4564	61	34	SUCCESS
ACOX2	8309	.	GRCh37	3	58517052	58517052	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs75760511	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	94	0	ENST00000302819.5:c.745C>A	p.Gln249Lys	p.Q249K	ENST00000302819	NM_003500.3	249	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS33775.1	745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGATCAA	NONE	suspect|byCluster	.	hmmpanther:PTHR10909:SF266,hmmpanther:PTHR10909,Gene3D:2.40.110.10,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF56645	.	.	ENSP00000307697	.	7/15	.	.	.	.	.	.	.	.	rs75760511	7/15	PASS	ENST00000302819	Transcript	.	.	ENSG00000168306	120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.31)	.	ACOX2_HUMAN	ACOX2	HGNC	C9JY29_HUMAN,B4DPM1_HUMAN	.	UPI000000DC36	SNV	ACOX2,missense_variant,p.Gln249Lys,ENST00000459701,;ACOX2,missense_variant,p.Gln249Lys,ENST00000302819,;ACOX2,downstream_gene_variant,,ENST00000474098,;ACOX2,downstream_gene_variant,,ENST00000475143,;ACOX2,synonymous_variant,p.%3D,ENST00000489472,;ACOX2,3_prime_UTR_variant,,ENST00000492530,;ACOX2,non_coding_transcript_exon_variant,,ENST00000466810,;ACOX2,upstream_gene_variant,,ENST00000467738,;ACOX2,downstream_gene_variant,,ENST00000480791,;ACOX2,upstream_gene_variant,,ENST00000459888,;ACOX2,downstream_gene_variant,,ENST00000466689,;	1037	94	60	SUCCESS
ZNF518B	85460	.	GRCh37	4	10445315	10445315	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	76	0	ENST00000326756.3:c.2638C>G	p.Leu880Val	p.L880V	ENST00000326756	NM_053042.2	880	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS33960.1	2638	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAGCAGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032	.	.	ENSP00000317614	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000326756	Transcript	.	.	ENSG00000178163	29365	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.29)	.	Z518B_HUMAN	ZNF518B	HGNC	D6RDM9_HUMAN	.	UPI0000160B97	SNV	ZNF518B,missense_variant,p.Leu880Val,ENST00000326756,;ZNF518B,downstream_gene_variant,,ENST00000507515,;	3077	76	38	SUCCESS
SLIT2	9353	.	GRCh37	4	20490566	20490566	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs747934299	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	37	162	0	ENST00000504154.1:c.737del	p.Asn246MetfsTer2	p.N246Mfs*2	ENST00000504154	NM_004787.1	246	Aat/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS3426.1	736	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCATAATGTA	NONE	.	.	hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Pfam_domain:PF01463,SMART_domains:SM00082	.	.	ENSP00000422591	.	8/37	.	.	.	.	.	.	.	.	rs747934299	8/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	deletion	SLIT2,frameshift_variant,p.Asn246MetfsTer2,ENST00000273739,;SLIT2,frameshift_variant,p.Asn246MetfsTer2,ENST00000504154,;SLIT2,frameshift_variant,p.Asn246MetfsTer2,ENST00000503823,;SLIT2,frameshift_variant,p.Asn246MetfsTer2,ENST00000503837,;SLIT2,downstream_gene_variant,,ENST00000508824,;	988	162	129	SUCCESS
PCDHA1	56147	.	GRCh37	5	140167835	140167835	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	35	53	0	ENST00000504120.2:c.1960C>G	p.His654Asp	p.H654D	ENST00000504120	NM_018900.2	654	Cac/Gac	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS54913.1	1960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATCACGGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000420840	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000504120	Transcript	.	.	ENSG00000204970	8663	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious_low_confidence(0)	.	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	SNV	PCDHA1,missense_variant,p.His654Asp,ENST00000504120,;PCDHA1,missense_variant,p.His654Asp,ENST00000378133,;PCDHA1,intron_variant,,ENST00000394633,;	1960	53	56	SUCCESS
ATP10B	23120	.	GRCh37	5	160047535	160047535	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	48	178	0	ENST00000327245.5:c.2235G>T	p.Gln745His	p.Q745H	ENST00000327245	NM_025153.2	745	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS43394.1	2235	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCACCTGCTC	NONE	.	.	Superfamily_domains:SSF81660,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	.	.	ENSP00000313600	.	15/26	.	.	.	.	.	.	.	.	.	15/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	deleterious(0.04)	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,missense_variant,p.Gln745His,ENST00000327245,;ATP10B,missense_variant,p.Gln353His,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;	3082	178	163	SUCCESS
POC5	134359	.	GRCh37	5	74998430	74998430	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	24	64	0	ENST00000428202.2:c.513G>A		p.X171_splice	ENST00000428202	NM_001099271.1	171	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS47236.1	513	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTACCTTAAG	NONE	.	.	.	.	.	ENSP00000410216	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000428202	Transcript	.	.	ENSG00000152359	26658	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POC5_HUMAN	POC5	HGNC	D6RJ06_HUMAN,D6REA5_HUMAN,D6RBC1_HUMAN	.	UPI000020CB20	SNV	POC5,synonymous_variant,p.%3D,ENST00000514838,;POC5,synonymous_variant,p.%3D,ENST00000380475,;POC5,synonymous_variant,p.%3D,ENST00000446329,;POC5,synonymous_variant,p.%3D,ENST00000428202,;POC5,synonymous_variant,p.%3D,ENST00000510798,;POC5,synonymous_variant,p.%3D,ENST00000503835,;POC5,downstream_gene_variant,,ENST00000506164,;POC5,downstream_gene_variant,,ENST00000502826,;POC5,splice_region_variant,,ENST00000504862,;POC5,splice_region_variant,,ENST00000515285,;POC5,downstream_gene_variant,,ENST00000507421,;POC5,downstream_gene_variant,,ENST00000512125,;POC5,downstream_gene_variant,,ENST00000508467,;	703	64	84	SUCCESS
TAAR2	9287	.	GRCh37	6	132938951	132938951	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	116	0	ENST00000367931.1:c.394T>G	p.Phe132Val	p.F132V	ENST00000367931		132	Ttt/Gtt	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS34541.1	394	MUTECT|MUSE	.	ATGAAAAATGG	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR24249:SF30,hmmpanther:PTHR24249,PROSITE_profiles:PS50262	.	.	ENSP00000356908	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367931	Transcript	.	.	ENSG00000146378	4514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TAAR2_HUMAN	TAAR2	HGNC	.	.	UPI000048F3E6	SNV	TAAR2,missense_variant,p.Phe87Val,ENST00000537809,;TAAR2,missense_variant,p.Phe132Val,ENST00000367931,;TAAR2,missense_variant,p.Phe87Val,ENST00000275191,;	394	116	137	SUCCESS
MLLT4	0	.	GRCh37	6	168314939	168314939	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149079362	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	59	93	0	ENST00000447894.2:c.2129G>A	p.Arg710Gln	p.R710Q	ENST00000447894		710	cGg/cAg	0	A:0.0007	A:0.0038	.	A:0	.	A	R/Q	protein_coding	YES	CCDS47517.1	2129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCGGATCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10398,PROSITE_profiles:PS51126	A:0	A:0.0009	ENSP00000375956	A:0.002	16/30	.	.	.	.	.	.	.	.	rs149079362	16/30	common_in_exac	ENST00000392108	Transcript	.	A:0.0014	ENSG00000130396	7137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	A:0	tolerated(0.36)	.	AFAD_HUMAN	MLLT4	HGNC	.	.	UPI0000711FD9	SNV	MLLT4,missense_variant,p.Arg717Gln,ENST00000351017,;MLLT4,missense_variant,p.Arg710Gln,ENST00000447894,;MLLT4,missense_variant,p.Arg710Gln,ENST00000392108,;MLLT4,missense_variant,p.Arg694Gln,ENST00000392112,;MLLT4,missense_variant,p.Arg710Gln,ENST00000344191,;MLLT4,missense_variant,p.Arg709Gln,ENST00000400822,;MLLT4,missense_variant,p.Arg710Gln,ENST00000366806,;MLLT4,upstream_gene_variant,,ENST00000497596,;MLLT4,downstream_gene_variant,,ENST00000423229,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;	2271	93	132	SUCCESS
HLA-DMB	3109	.	GRCh37	6	32906517	32906518	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GCCCATT	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	94	43	141	0	ENST00000418107.2:c.274_280dup	p.Leu94GlnfsTer35	p.L94Qfs*35	ENST00000418107	NM_002118.4	94	ctt/cAATGGGCtt	0	.	.	.	.	.	GCCCATT	L/QWAX	protein_coding	YES	CCDS4760.1	280-281	INDELOCATOR|VARSCANI	.	TCTGAAGCCCA	NONE	.	.	hmmpanther:PTHR19944:SF51,hmmpanther:PTHR19944,Gene3D:3.10.320.10,Pfam_domain:PF00969,SMART_domains:SM00921,Superfamily_domains:SSF54452	.	.	ENSP00000398890	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000418107	Transcript	.	.	ENSG00000242574	4935	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMB_HUMAN	HLA-DMB	HGNC	B4DVC2_HUMAN	.	UPI0000140DCC	insertion	HLA-DMB,frameshift_variant,p.Leu94GlnfsTer35,ENST00000416244,;XXbac-BPG181M17.5,frameshift_variant,p.Leu126GlnfsTer35,ENST00000429234,;HLA-DMB,frameshift_variant,p.Leu94GlnfsTer35,ENST00000418107,;HLA-DMB,upstream_gene_variant,,ENST00000414017,;HLA-DMB,upstream_gene_variant,,ENST00000438510,;AL645941.1,upstream_gene_variant,,ENST00000390777,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000498020,;HLA-DMB,upstream_gene_variant,,ENST00000487996,;HLA-DMB,upstream_gene_variant,,ENST00000477537,;	543-544	141	137	SUCCESS
BRPF3	27154	.	GRCh37	6	36168416	36168416	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1282535130	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	5	148	0	ENST00000357641.6:c.317A>G	p.His106Arg	p.H106R	ENST00000357641	NM_015695.2	106	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS34437.1	317	MUTECT|MUSE	.	CAAGCATGCAT	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF19,Pfam_domain:PF10513	.	.	ENSP00000350267	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000357641	Transcript	.	.	ENSG00000096070	14256	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.197)	.	tolerated(0.18)	.	BRPF3_HUMAN	BRPF3	HGNC	A8WI62_HUMAN,A8WI61_HUMAN	.	UPI00001C1E4C	SNV	BRPF3,missense_variant,p.His106Arg,ENST00000443324,;BRPF3,missense_variant,p.His106Arg,ENST00000357641,;BRPF3,missense_variant,p.His106Arg,ENST00000534694,;BRPF3,missense_variant,p.His106Arg,ENST00000543502,;BRPF3,missense_variant,p.His106Arg,ENST00000339717,;BRPF3,missense_variant,p.His106Arg,ENST00000534400,;BRPF3,missense_variant,p.His106Arg,ENST00000454960,;BRPF3,downstream_gene_variant,,ENST00000446974,;BRPF3,upstream_gene_variant,,ENST00000527657,;RP1-179N16.6,upstream_gene_variant,,ENST00000526611,;RP1-179N16.6,upstream_gene_variant,,ENST00000499560,;BRPF3,missense_variant,p.His79Arg,ENST00000441123,;BRPF3,missense_variant,p.His106Arg,ENST00000449261,;BRPF3,missense_variant,p.His106Arg,ENST00000532330,;	570	148	144	SUCCESS
PHF3	23469	.	GRCh37	6	64401788	64401788	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	99	138	0	ENST00000262043.3:c.2351C>G	p.Thr784Ser	p.T784S	ENST00000262043		784	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS4966.1	2351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATACTTTGG	NONE	.	.	hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914	.	.	ENSP00000262043	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000262043	Transcript	.	.	ENSG00000118482	8921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.13)	.	PHF3_HUMAN	PHF3	HGNC	E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN	.	UPI000007154D	SNV	PHF3,missense_variant,p.Thr784Ser,ENST00000393387,;PHF3,missense_variant,p.Thr784Ser,ENST00000262043,;PHF3,missense_variant,p.Thr598Ser,ENST00000506783,;PHF3,missense_variant,p.Thr737Ser,ENST00000494284,;PHF3,missense_variant,p.Thr696Ser,ENST00000481385,;PHF3,missense_variant,p.Thr53Ser,ENST00000515594,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	2691	138	205	SUCCESS
LAMB1	3912	.	GRCh37	7	107642432	107642432	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	26	0	ENST00000222399.6:c.38-254G>A		p.*13*	ENST00000222399	NM_002291.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5750.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCGGGAA	NONE	.	.	.	.	.	ENSP00000222399	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222399	Transcript	.	.	ENSG00000091136	6486	.	.	MODIFIER	2/33	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMB1_HUMAN	LAMB1	HGNC	Q75MC8_HUMAN,E9PCS6_HUMAN	.	UPI00001AE63F	SNV	LAMB1,5_prime_UTR_variant,,ENST00000393561,;LAMB1,intron_variant,,ENST00000393559,;LAMB1,intron_variant,,ENST00000439976,;LAMB1,intron_variant,,ENST00000393560,;LAMB1,intron_variant,,ENST00000222399,;U3,upstream_gene_variant,,ENST00000458938,;	.	26	23	SUCCESS
PRRT4	401399	.	GRCh37	7	127999248	127999248	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1251984455	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	65	137	0	ENST00000446477.2:c.712G>A	p.Glu238Lys	p.E238K	ENST00000446477	NM_001174164.1	238	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS55160.1	712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCACCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000415026	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000446477	Transcript	.	.	ENSG00000224940	37280	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	PRRT4_HUMAN	PRRT4	HGNC	C9JWH6_HUMAN,C9JVX5_HUMAN,C9JQT1_HUMAN	.	UPI0000DD7E1D	SNV	PRRT4,missense_variant,p.Glu238Lys,ENST00000489517,;PRRT4,missense_variant,p.Glu238Lys,ENST00000489835,;PRRT4,missense_variant,p.Glu238Lys,ENST00000535159,;PRRT4,missense_variant,p.Glu120Lys,ENST00000480290,;PRRT4,missense_variant,p.Glu238Lys,ENST00000446477,;PRRT4,missense_variant,p.Glu238Lys,ENST00000435512,;PRRT4,downstream_gene_variant,,ENST00000495931,;PRRT4,downstream_gene_variant,,ENST00000464607,;	1026	137	107	SUCCESS
IL6	3569	.	GRCh37	7	22767222	22767222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	50	115	0	ENST00000258743.5:c.179T>A	p.Ile60Asn	p.I60N	ENST00000258743	NM_000600.3	60	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS5375.1	179	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACATCCTCG	NONE	.	.	Prints_domain:PR00434,Prints_domain:PR00433,Superfamily_domains:SSF47266,SMART_domains:SM00126,PIRSF_domain:PIRSF001935,Pfam_domain:PF00489,Gene3D:1.20.1250.10,hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457	.	.	ENSP00000385675	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000404625	Transcript	.	.	ENSG00000136244	6018	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IL6_HUMAN	IL6	HGNC	Q75MH2_HUMAN,H9C875_HUMAN,C9J5B0_HUMAN,B5MC21_HUMAN	.	UPI000002C4A6	SNV	IL6,missense_variant,p.Ile37Asn,ENST00000401630,;IL6,missense_variant,p.Ile114Asn,ENST00000420258,;IL6,missense_variant,p.Ile60Asn,ENST00000258743,;IL6,missense_variant,p.Ile60Asn,ENST00000426291,;IL6,missense_variant,p.Ile60Asn,ENST00000406575,;IL6,missense_variant,p.Ile60Asn,ENST00000404625,;IL6,intron_variant,,ENST00000401651,;IL6,intron_variant,,ENST00000407492,;AC073072.5,non_coding_transcript_exon_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,upstream_gene_variant,,ENST00000464710,;	638	115	75	SUCCESS
ZSCAN21	7589	.	GRCh37	7	99662023	99662023	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	54	0	ENST00000292450.4:c.1205G>C	p.Gly402Ala	p.G402A	ENST00000292450	NM_145914.2	402	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS5681.1	1205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGGCCTCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF10,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000292450	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000292450	Transcript	.	.	ENSG00000166529	13104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.9)	.	tolerated(0.72)	.	ZSC21_HUMAN	ZSCAN21	HGNC	Q8N506_HUMAN,C9JHD9_HUMAN	.	UPI000000DBCC	SNV	ZSCAN21,missense_variant,p.Gly402Ala,ENST00000292450,;ZSCAN21,missense_variant,p.Ala368Pro,ENST00000543588,;ZSCAN21,missense_variant,p.Ala368Pro,ENST00000456748,;ZNF3,3_prime_UTR_variant,,ENST00000413658,;ZSCAN21,downstream_gene_variant,,ENST00000477297,;	1369	54	57	SUCCESS
ZHX1	11244	.	GRCh37	8	124268401	124268401	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	33	55	0	ENST00000297857.2:c.-215T>A		p.*72*	ENST00000297857				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6342.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAACTCCA	NONE	.	.	.	.	.	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	SNV	ZHX1,5_prime_UTR_variant,,ENST00000395571,;ZHX1,5_prime_UTR_variant,,ENST00000522655,;ZHX1,5_prime_UTR_variant,,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,non_coding_transcript_exon_variant,,ENST00000522595,;ZHX1,non_coding_transcript_exon_variant,,ENST00000480132,;ZHX1,non_coding_transcript_exon_variant,,ENST00000524267,;ZHX1,intron_variant,,ENST00000517516,;	404	55	60	SUCCESS
ATAD2	29028	.	GRCh37	8	124340448	124340448	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	51	0	ENST00000287394.5:c.3850G>A	p.Asp1284Asn	p.D1284N	ENST00000287394	NM_014109.3	1284	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6343.1	3850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCAGAAA	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1	.	.	ENSP00000287394	.	25/28	.	.	.	.	.	.	.	.	.	25/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.19)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Asp1284Asn,ENST00000287394,;ATAD2,missense_variant,p.Asp602Asn,ENST00000521903,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,intron_variant,,ENST00000517666,;	3958	51	64	SUCCESS
CSMD1	64478	.	GRCh37	8	3216738	3216738	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	38	108	0	ENST00000537824.1:c.3240C>T	p.Ala1080=	p.A1080=	ENST00000537824	NM_033225.5	1080	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS55189.1	3240	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGGCACC	NONE	.	.	PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000441462	.	21/70	.	.	.	.	.	.	.	.	.	21/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	3240	108	142	SUCCESS
ANK1	286	.	GRCh37	8	41554074	41554074	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	85	0	ENST00000347528.4:c.2767G>C	p.Gly923Arg	p.G923R	ENST00000347528	NM_020477.2	923	Ggt/Cgt	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS47849.1	2890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACCCCGGG	NONE	.	.	PROSITE_profiles:PS51145,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Pfam_domain:PF00791,SMART_domains:SM00218	.	.	ENSP00000265709	.	27/43	.	.	.	.	.	.	.	.	COSM3649228,COSM3649227	27/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	1,1	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Gly964Arg,ENST00000265709,;ANK1,missense_variant,p.Gly923Arg,ENST00000289734,;ANK1,missense_variant,p.Gly923Arg,ENST00000347528,;ANK1,missense_variant,p.Gly245Arg,ENST00000520299,;ANK1,missense_variant,p.Gly923Arg,ENST00000352337,;ANK1,missense_variant,p.Gly923Arg,ENST00000379758,;ANK1,missense_variant,p.Gly923Arg,ENST00000396942,;ANK1,missense_variant,p.Gly923Arg,ENST00000396945,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000524069,;	3172	86	63	SUCCESS
PRKDC	5591	.	GRCh37	8	48792161	48792176	+	frameshift_variant	Frame_Shift_Del	DEL	TCCTCCAGACTGCCTC	TCCTCCAGACTGCCTC	-	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	TCCTCCAGACTGCCTC	TCCTCCAGACTGCCTC	.	.	.	.	.	.	.	.	.	.	.	.	.	131	29	190	0	ENST00000314191.2:c.5108_5123del	p.Gly1703AspfsTer35	p.G1703Dfs*35	ENST00000314191	NM_006904.6	1703	gGAGGCAGTCTGGAGGAa/ga	0	.	.	.	.	.	-	GGSLEE/X	protein_coding	YES	.	5108-5123	INDELOCATOR*|VARSCANI*|PINDEL	.	CTAAGTTCCTCCAGACTGCCTCCAGTG	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371	.	.	ENSP00000313420	.	40/87	.	.	.	.	.	.	.	.	.	40/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	deletion	PRKDC,frameshift_variant,p.Gly1703AspfsTer35,ENST00000338368,;PRKDC,frameshift_variant,p.Gly1703AspfsTer35,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;	5165-5180	190	160	SUCCESS
TMEM8B	51754	.	GRCh37	9	35841187	35841187	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	39	120	0	ENST00000377988.2:c.-394G>T		p.*132*	ENST00000377988	NM_001042590.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43800.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTGCTGGA	NONE	.	.	.	.	.	ENSP00000367227	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000377988	Transcript	.	.	ENSG00000137103	21427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM8B_HUMAN	TMEM8B	HGNC	.	.	UPI00002113B9	SNV	TMEM8B,5_prime_UTR_variant,,ENST00000377996,;TMEM8B,5_prime_UTR_variant,,ENST00000439587,;TMEM8B,5_prime_UTR_variant,,ENST00000377988,;TMEM8B,5_prime_UTR_variant,,ENST00000377991,;TMEM8B,non_coding_transcript_exon_variant,,ENST00000490199,;TMEM8B,non_coding_transcript_exon_variant,,ENST00000472010,;TMEM8B,non_coding_transcript_exon_variant,,ENST00000464519,;TMEM8B,intron_variant,,ENST00000473947,;	895	120	101	SUCCESS
PHF2	5253	.	GRCh37	9	96416768	96416768	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779187383	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	36	76	0	ENST00000359246.4:c.863C>G	p.Ser288Cys	p.S288C	ENST00000359246	NM_005392.3	288	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS35069.1	863	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCTAACC	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Gene3D:1vrbA01,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000352185	.	7/22	.	.	.	.	.	.	.	.	rs779187383	7/22	PASS	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,missense_variant,p.Ser288Cys,ENST00000359246,;PHF2,intron_variant,,ENST00000375376,;	1230	76	54	SUCCESS
GUCY2F	2986	.	GRCh37	X	108673578	108673578	+	synonymous_variant	Silent	SNP	G	G	A	rs779445421	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	49	0	ENST00000218006.2:c.1749C>T	p.Asp583=	p.D583=	ENST00000218006	NM_001522.2	583	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS14545.1	1749	MUTECT|MUSE|VARSCANS	.	TTAAGGTCTCC	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF278,hmmpanther:PTHR11920,Superfamily_domains:SSF56112	.	.	ENSP00000218006	.	8/20	.	.	.	.	.	.	.	.	rs779445421	8/20	PASS	ENST00000218006	Transcript	.	.	ENSG00000101890	4691	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GUC2F_HUMAN	GUCY2F	HGNC	.	.	UPI000013C740	SNV	GUCY2F,synonymous_variant,p.%3D,ENST00000218006,;	2041	49	52	SUCCESS
IQSEC2	23096	.	GRCh37	X	53277343	53277343	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	73	109	0	ENST00000396435.3:c.2535G>A	p.Arg845=	p.R845=	ENST00000396435	NM_001111125.2	845	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS48130.1	2535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACCCGGAT	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF61,Pfam_domain:PF01369,Gene3D:1.10.1000.11,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000379712	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000396435	Transcript	.	.	ENSG00000124313	29059	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQEC2_HUMAN	IQSEC2	HGNC	C7SDG2_HUMAN	.	UPI00001C207D	SNV	IQSEC2,synonymous_variant,p.%3D,ENST00000375365,;IQSEC2,synonymous_variant,p.%3D,ENST00000375368,;IQSEC2,synonymous_variant,p.%3D,ENST00000396435,;	2736	109	80	SUCCESS
VCX	26609	.	GRCh37	X	7811240	7811240	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	9	141	0	ENST00000381059.3:c.-5G>A		p.*2*	ENST00000381059	NM_013452.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14128.1	.	MUTECT|MUSE|VARSCANS	.	GCTGCGGAAGA	NONE	.	.	.	.	.	ENSP00000370447	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000381059	Transcript	.	.	ENSG00000182583	12667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VCX1_HUMAN	VCX	HGNC	.	.	UPI0000138291	SNV	VCX,5_prime_UTR_variant,,ENST00000341408,;VCX,5_prime_UTR_variant,,ENST00000381059,;	215	141	122	SUCCESS
CUBN	8029	.	GRCh37	10	16882374	16882374	+	synonymous_variant	Silent	SNP	C	C	T	rs80308930	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	59	0	ENST00000377833.4:c.9987G>A	p.Ser3329=	p.S3329=	ENST00000377833	NM_001081.3	3329	tcG/tcA	0	T:0.0041	T:0.0045	.	T:0	.	T	S	protein_coding	YES	CCDS7113.1	9987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGAGGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	T:0.001	T:0	ENSP00000367064	T:0	62/67	.	.	.	.	.	.	.	.	rs80308930	62/67	common_in_exac	ENST00000377833	Transcript	1	T:0.0014	ENSG00000107611	2548	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,synonymous_variant,p.%3D,ENST00000377833,;	10053	59	50	SUCCESS
C10orf128	0	.	GRCh37	10	50369542	50369542	+	intron_variant	Intron	SNP	G	G	A	rs536235858	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	19	0	ENST00000474718.1:c.293+102C>T		p.*98*	ENST00000474718	NM_001010863.1			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS41519.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGTGGCC	NONE	by1000G	.	.	A:0.001	.	ENSP00000417246	A:0	.	.	.	.	.	.	.	.	.	rs536235858	.	PASS	ENST00000474718	Transcript	.	A:0.0002	ENSG00000204161	27274	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CJ128_HUMAN	C10orf128	HGNC	.	.	UPI0000039EF9	SNV	C10orf128,3_prime_UTR_variant,,ENST00000374148,;C10orf128,intron_variant,,ENST00000374151,;C10orf128,intron_variant,,ENST00000453436,;C10orf128,intron_variant,,ENST00000474718,;C10orf128,intron_variant,,ENST00000374153,;C10orf128,intron_variant,,ENST00000488276,;C10orf128,intron_variant,,ENST00000374156,;	.	19	19	SUCCESS
FAM208B	0	.	GRCh37	10	5772683	5772683	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	125	0	ENST00000328090.5:c.721A>C	p.Ser241Arg	p.S241R	ENST00000328090	NM_017782.4	241	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS41485.1	721	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCAGTGGT	NONE	.	.	hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	.	.	ENSP00000328426	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000328090	Transcript	.	.	ENSG00000108021	23484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.1)	.	F208B_HUMAN	FAM208B	HGNC	.	.	UPI00004589BB	SNV	FAM208B,missense_variant,p.Ser241Arg,ENST00000328090,;FAM208B,missense_variant,p.Ser21Arg,ENST00000380270,;RP11-336A10.2,intron_variant,,ENST00000411512,;FAM208B,non_coding_transcript_exon_variant,,ENST00000532080,;	1346	126	115	SUCCESS
CCAR1	55749	.	GRCh37	10	70507323	70507323	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	55	0	ENST00000265872.6:c.826G>A	p.Ala276Thr	p.A276T	ENST00000265872	NM_018237.2	276	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7282.1	826	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGGTATC	NONE	.	.	hmmpanther:PTHR14304:SF13,hmmpanther:PTHR14304,Low_complexity_(Seg):seg	.	.	ENSP00000265872	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000265872	Transcript	.	.	ENSG00000060339	24236	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.354)	.	tolerated(0.13)	.	CCAR1_HUMAN	CCAR1	HGNC	F5H7M9_HUMAN,F5H3I8_HUMAN,F5H1H2_HUMAN	.	UPI000004D30A	SNV	CCAR1,missense_variant,p.Ala261Thr,ENST00000535016,;CCAR1,missense_variant,p.Ala250Thr,ENST00000543225,;CCAR1,missense_variant,p.Ala261Thr,ENST00000539539,;CCAR1,missense_variant,p.Ala261Thr,ENST00000543719,;CCAR1,missense_variant,p.Ala276Thr,ENST00000265872,;CCAR1,missense_variant,p.Ala81Thr,ENST00000536012,;CCAR1,missense_variant,p.Ala276Thr,ENST00000540210,;CCAR1,missense_variant,p.Ala276Thr,ENST00000541012,;CCAR1,splice_region_variant,,ENST00000543229,;	945	55	41	SUCCESS
DUSP13	51207	.	GRCh37	10	76865548	76865548	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200574063	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	47	0	ENST00000372702.3:c.446G>A	p.Arg149Gln	p.R149Q	ENST00000372702		149	cGg/cAg	0	T:0.0028	T:0.0038	.	T:0	.	T	.	protein_coding	YES	CCDS31224.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCCGCTGG	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000361785	T:0	.	.	.	.	.	.	.	.	.	rs200574063	.	PASS	ENST00000372700	Transcript	.	T:0.0010	ENSG00000079393	19681	.	.	MODIFIER	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	DS13B_HUMAN	DUSP13	HGNC	.	.	UPI0000481AED	SNV	DUSP13,missense_variant,p.Arg149Gln,ENST00000372702,;DUSP13,synonymous_variant,p.%3D,ENST00000607487,;DUSP13,synonymous_variant,p.%3D,ENST00000473072,;DUSP13,5_prime_UTR_variant,,ENST00000491677,;SAMD8,intron_variant,,ENST00000447533,;DUSP13,intron_variant,,ENST00000372700,;DUSP13,intron_variant,,ENST00000607131,;DUSP13,intron_variant,,ENST00000607009,;DUSP13,intron_variant,,ENST00000494588,;DUSP13,intron_variant,,ENST00000479884,;DUSP13,intron_variant,,ENST00000308475,;DUSP13,intron_variant,,ENST00000394707,;	.	47	50	SUCCESS
SLC1A2	6506	.	GRCh37	11	35308464	35308464	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	54	0	ENST00000278379.3:c.1126G>C	p.Glu376Gln	p.E376Q	ENST00000278379	NM_004171.3	376	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS31459.1	1126	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCCAGGC	NONE	.	.	hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF43,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	.	.	ENSP00000278379	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000278379	Transcript	.	.	ENSG00000110436	10940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EAA2_HUMAN	SLC1A2	HGNC	A2A2U1_HUMAN	.	UPI0000129B12	SNV	SLC1A2,missense_variant,p.Glu376Gln,ENST00000606205,;SLC1A2,missense_variant,p.Glu367Gln,ENST00000395753,;SLC1A2,missense_variant,p.Glu94Gln,ENST00000531628,;SLC1A2,missense_variant,p.Glu367Gln,ENST00000395750,;SLC1A2,missense_variant,p.Glu376Gln,ENST00000278379,;RP1-68D18.3,downstream_gene_variant,,ENST00000532760,;SLC1A2,upstream_gene_variant,,ENST00000479543,;	1409	54	57	SUCCESS
OR5D18	219438	.	GRCh37	11	55587559	55587559	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	54	186	0	ENST00000333976.4:c.454T>A	p.Trp152Arg	p.W152R	ENST00000333976	NM_001001952.1	152	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS31510.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTGGGGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000335025	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333976	Transcript	.	.	ENSG00000186119	15285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	OR5DI_HUMAN	OR5D18	HGNC	.	.	UPI0000046197	SNV	OR5D18,missense_variant,p.Trp152Arg,ENST00000333976,;	474	186	164	SUCCESS
TMX2-CTNND1	100528016	.	GRCh37	11	57508993	57508993	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	G	rs61743262	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	10	0	ENST00000528395.1:c.250+3853A>G		p.*84*	ENST00000528395				0	.	G:0.0333	.	G:0.0014	.	G	.	protein_coding	YES	CCDS44602.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCAGTTTC	NONE	byFrequency|by1000G	51	.	G:0	.	ENSP00000373509	G:0	.	.	.	.	.	.	.	.	.	rs61743262	.	PASS	ENST00000388857	Transcript	.	G:0.0090	ENSG00000211450	18251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	SELH_HUMAN	C11orf31	HGNC	.	.	UPI0000163E14	SNV	C11orf31,5_prime_UTR_variant,,ENST00000534355,;BTBD18,downstream_gene_variant,,ENST00000436147,;C11orf31,upstream_gene_variant,,ENST00000528798,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;BTBD18,downstream_gene_variant,,ENST00000422652,;TMX2,downstream_gene_variant,,ENST00000278422,;C11orf31,upstream_gene_variant,,ENST00000388857,;C11orf31,non_coding_transcript_exon_variant,,ENST00000533321,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,upstream_gene_variant,,ENST00000531074,;TMX2,downstream_gene_variant,,ENST00000525035,;C11orf31,upstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000528110,;TMX2,downstream_gene_variant,,ENST00000530114,;TMX2,downstream_gene_variant,,ENST00000529403,;TMX2,downstream_gene_variant,,ENST00000528042,;TMX2,downstream_gene_variant,,ENST00000524972,;TMX2,downstream_gene_variant,,ENST00000533602,;	.	10	19	SUCCESS
TRIM3	10612	.	GRCh37	11	6477606	6477606	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	58	0	ENST00000345851.3:c.1350G>T	p.Val450=	p.V450=	ENST00000345851	NM_033278.3	450	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS7764.1	1350	MUTECT|MUSE	.	CTACGCACTGC	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF1	.	.	ENSP00000433102	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000525074	Transcript	.	.	ENSG00000110171	10064	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRIM3_HUMAN	TRIM3	HGNC	E9PMW5_HUMAN,E9PMK8_HUMAN,D3DQT3_HUMAN,B3KV53_HUMAN	.	UPI000013C8BA	SNV	TRIM3,synonymous_variant,p.%3D,ENST00000345851,;TRIM3,synonymous_variant,p.%3D,ENST00000537602,;TRIM3,synonymous_variant,p.%3D,ENST00000359518,;TRIM3,synonymous_variant,p.%3D,ENST00000525074,;TRIM3,synonymous_variant,p.%3D,ENST00000536344,;TRIM3,downstream_gene_variant,,ENST00000528227,;TRIM3,downstream_gene_variant,,ENST00000529529,;TRIM3,non_coding_transcript_exon_variant,,ENST00000527237,;TRIM3,intron_variant,,ENST00000529058,;TRIM3,downstream_gene_variant,,ENST00000528932,;TRIM3,upstream_gene_variant,,ENST00000526845,;TRIM3,upstream_gene_variant,,ENST00000533309,;TRIM3,upstream_gene_variant,,ENST00000532542,;	1745	58	52	SUCCESS
GAL	51083	.	GRCh37	11	68455540	68455540	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	57	0	ENST00000265643.3:c.195G>A	p.Glu65=	p.E65=	ENST00000265643	NM_015973.3	65	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS8183.1	195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGAGCTGCG	NONE	.	.	hmmpanther:PTHR16839:SF0,hmmpanther:PTHR16839,Pfam_domain:PF06540,SMART_domains:SM00071	.	.	ENSP00000265643	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000265643	Transcript	.	.	ENSG00000069482	4114	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALA_HUMAN	GAL	HGNC	.	.	UPI000002D719	SNV	GAL,synonymous_variant,p.%3D,ENST00000265643,;GAL,downstream_gene_variant,,ENST00000538401,;	453	57	61	SUCCESS
HCFC2	29915	.	GRCh37	12	104474603	104474604	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	82	24	94	0	ENST00000229330.4:c.763_764del	p.Asn255GlnfsTer12	p.N255Qfs*12	ENST00000229330	NM_013320.2	254	ggAAac/ggac	0	.	.	.	.	.	-	GN/GX	protein_coding	YES	CCDS9097.1	762-763	INDELOCATOR*|VARSCANI*|PINDEL	.	TATAGGAAACAAG	NONE	.	.	hmmpanther:PTHR23244:SF288,hmmpanther:PTHR23244,Gene3D:1zgkA00,Superfamily_domains:0052715	.	.	ENSP00000229330	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000229330	Transcript	.	.	ENSG00000111727	24972	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HCFC2_HUMAN	HCFC2	HGNC	F8VU09_HUMAN	.	UPI000006CF31	deletion	HCFC2,frameshift_variant,p.Asn255GlnfsTer12,ENST00000229330,;HCFC2,downstream_gene_variant,,ENST00000550444,;HCFC2,frameshift_variant,p.Asn255GlnfsTer12,ENST00000544223,;HCFC2,non_coding_transcript_exon_variant,,ENST00000547194,;	866-867	94	106	SUCCESS
DAO	1610	.	GRCh37	12	109283278	109283278	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs201583577	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	45	0	ENST00000228476.3:c.343C>T	p.Arg115Trp	p.R115W	ENST00000228476	NM_001917.4	115	Cgg/Tgg	0	T:0	.	.	.	.	T	R/W	protein_coding	YES	CCDS9122.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTCGGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11530:SF5,hmmpanther:PTHR11530,Gene3D:3.30.9.10,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,Superfamily_domains:SSF51971	.	T:0.0001	ENSP00000228476	.	4/11	.	.	.	.	.	.	.	.	rs201583577	4/11	PASS	ENST00000228476	Transcript	.	.	ENSG00000110887	2671	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OXDA_HUMAN	DAO	HGNC	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN	.	UPI0000130F5F	SNV	DAO,missense_variant,p.Arg115Trp,ENST00000547166,;DAO,missense_variant,p.Arg115Trp,ENST00000228476,;DAO,5_prime_UTR_variant,,ENST00000547768,;DAO,intron_variant,,ENST00000551281,;DAO,synonymous_variant,p.%3D,ENST00000547122,;DAO,intron_variant,,ENST00000549215,;	547	45	42	SUCCESS
GPR84	53831	.	GRCh37	12	54757494	54757494	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	50	0	ENST00000267015.3:c.142C>A	p.Gln48Lys	p.Q48K	ENST00000267015	NM_020370.2	48	Cag/Aag	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS8878.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGGATGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF59,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000450310	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000551809	Transcript	.	.	ENSG00000139572	4535	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.119)	.	deleterious(0.04)	.	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,missense_variant,p.Gln48Lys,ENST00000551809,;GPR84,missense_variant,p.Gln48Lys,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	778	50	46	SUCCESS
OR6C76	390326	.	GRCh37	12	55820492	55820492	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	28	79	1	ENST00000328314.3:c.455T>C	p.Val152Ala	p.V152A	ENST00000328314	NM_001005183.1	152	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31823.1	455	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGTAATTT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF35,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000328402	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328314	Transcript	.	.	ENSG00000185821	31305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.314)	.	deleterious_low_confidence(0.04)	.	O6C76_HUMAN	OR6C76	HGNC	.	.	UPI000023786F	SNV	OR6C76,missense_variant,p.Val152Ala,ENST00000328314,;	455	80	93	SUCCESS
MON2	23041	.	GRCh37	12	62979151	62979151	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	45	151	0	ENST00000393630.3:c.4780A>T	p.Asn1594Tyr	p.N1594Y	ENST00000393630		1594	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS31849.1	4777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTAATAAA	NONE	.	.	.	.	.	ENSP00000377252	.	33/35	.	.	.	.	.	.	.	.	.	33/35	PASS	ENST00000393632	Transcript	.	.	ENSG00000061987	29177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	deleterious(0)	.	MON2_HUMAN	MON2	HGNC	F8VZV1_HUMAN	.	UPI00001AEA4C	SNV	MON2,missense_variant,p.Asn1593Tyr,ENST00000546600,;MON2,missense_variant,p.Asn1594Tyr,ENST00000393630,;MON2,missense_variant,p.Asn1594Tyr,ENST00000280379,;MON2,missense_variant,p.Asn1587Tyr,ENST00000393629,;MON2,missense_variant,p.Asn1593Tyr,ENST00000393632,;MON2,missense_variant,p.Asn1564Tyr,ENST00000552738,;MON2,upstream_gene_variant,,ENST00000551397,;MON2,3_prime_UTR_variant,,ENST00000547095,;MON2,non_coding_transcript_exon_variant,,ENST00000546751,;MON2,non_coding_transcript_exon_variant,,ENST00000551307,;	5168	151	139	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72030765	72030766	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	ATTA	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	106	21	79	0	ENST00000378743.3:c.1799_1800insTAAT	p.Leu601AsnfsTer8	p.L601Nfs*8	ENST00000378743	NM_144982.4	600	cca/ccTAATa	0	.	.	.	.	.	ATTA	P/PNX	protein_coding	YES	CCDS41813.1	1799-1800	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTAATGGTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21563	.	.	ENSP00000368017	.	8/35	.	.	.	.	.	.	.	.	.	8/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	insertion	ZFC3H1,frameshift_variant,p.Leu601AsnfsTer8,ENST00000378743,;SNORA17,upstream_gene_variant,,ENST00000391159,;ZFC3H1,frameshift_variant,p.Leu601AsnfsTer8,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546606,;	2158-2159	79	127	SUCCESS
EEA1	8411	.	GRCh37	12	93236314	93236314	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs777959627	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	227	91	219	0	ENST00000322349.8:c.842A>T	p.Gln281Leu	p.Q281L	ENST00000322349	NM_003566.3	281	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS31874.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGGGGG	NONE	.	.	hmmpanther:PTHR23164:SF2,hmmpanther:PTHR23164,Superfamily_domains:SSF90257	.	.	ENSP00000317955	.	10/29	.	.	.	.	.	.	.	.	rs777959627	10/29	PASS	ENST00000322349	Transcript	.	.	ENSG00000102189	3185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	EEA1_HUMAN	EEA1	HGNC	.	.	UPI000013C754	SNV	EEA1,missense_variant,p.Gln281Leu,ENST00000322349,;EEA1,3_prime_UTR_variant,,ENST00000418984,;	1107	219	318	SUCCESS
ABHD13	84945	.	GRCh37	13	108882138	108882138	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	98	1	ENST00000375898.3:c.572G>T	p.Gly191Val	p.G191V	ENST00000375898	NM_032859.2	191	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS32007.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGCCGTT	NONE	.	.	hmmpanther:PTHR12277,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,missense_variant,p.Gly191Val,ENST00000375898,;	873	99	92	SUCCESS
ANKRD10	55608	.	GRCh37	13	111532383	111532383	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	20	75	0	ENST00000267339.2:c.864C>G	p.Ser288=	p.S288=	ENST00000267339	NM_017664.2	288	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS9520.1	864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCGTGGAGGG	NONE	.	.	hmmpanther:PTHR24203:SF11,hmmpanther:PTHR24203	.	.	ENSP00000267339	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000267339	Transcript	.	.	ENSG00000088448	20265	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR10_HUMAN	ANKRD10	HGNC	Q9NXQ9_HUMAN,Q9H6D6_HUMAN	.	UPI000013D744	SNV	ANKRD10,synonymous_variant,p.%3D,ENST00000267339,;ANKRD10,3_prime_UTR_variant,,ENST00000375758,;ANKRD10,downstream_gene_variant,,ENST00000603993,;ANKRD10,non_coding_transcript_exon_variant,,ENST00000485844,;ANKRD10,downstream_gene_variant,,ENST00000489973,;	999	75	60	SUCCESS
SUPT20H	55578	.	GRCh37	13	37605935	37605935	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	57	168	0	ENST00000350612.6:c.805A>G	p.Lys269Glu	p.K269E	ENST00000350612	NM_001014286.2	269	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS31959.1	805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTTTGTA	NONE	.	.	hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3	.	.	ENSP00000218894	.	11/26	.	.	.	.	.	.	.	.	.	11/26	PASS	ENST00000350612	Transcript	.	.	ENSG00000102710	20596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	deleterious(0.02)	.	SP20H_HUMAN	SUPT20H	HGNC	.	.	UPI00004566E3	SNV	SUPT20H,missense_variant,p.Lys269Glu,ENST00000350612,;SUPT20H,missense_variant,p.Lys257Glu,ENST00000542180,;SUPT20H,missense_variant,p.Lys270Glu,ENST00000360252,;SUPT20H,missense_variant,p.Lys270Glu,ENST00000464744,;SUPT20H,missense_variant,p.Lys270Glu,ENST00000356185,;SUPT20H,missense_variant,p.Lys269Glu,ENST00000475892,;SUPT20H,upstream_gene_variant,,ENST00000469488,;AL138706.1,downstream_gene_variant,,ENST00000408173,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000490602,;SUPT20H,upstream_gene_variant,,ENST00000466563,;SUPT20H,upstream_gene_variant,,ENST00000476539,;SUPT20H,missense_variant,p.Lys257Glu,ENST00000490716,;SUPT20H,missense_variant,p.Lys257Glu,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000493537,;SUPT20H,upstream_gene_variant,,ENST00000478911,;	1026	168	207	SUCCESS
DOCK9	23348	.	GRCh37	13	99533811	99533811	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	47	0	ENST00000376460.1:c.2745+1G>A		p.X915_splice	ENST00000376460	NM_015296.2	915		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATACCTTAA	NONE	.	.	.	.	.	ENSP00000365643	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376460	Transcript	.	.	ENSG00000088387	14132	.	.	HIGH	25/56	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK9_HUMAN	DOCK9	HGNC	.	.	UPI000046FD7F	SNV	DOCK9,splice_donor_variant,,ENST00000376460,;DOCK9,splice_donor_variant,,ENST00000442173,;DOCK9,splice_donor_variant,,ENST00000339416,;DOCK9,splice_donor_variant,,ENST00000448493,;	.	47	48	SUCCESS
IGHV3-53	28420	.	GRCh37	14	107048766	107048766	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782463754	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	111	0	ENST00000390627.2:c.254G>A	p.Arg85Gln	p.R85Q	ENST00000390627		85	cGa/cAa	0	.	.	.	.	.	T	R/Q	IG_V_gene	YES	.	254	MUTECT|MUSE|VARSCANS	.	TGAATCGGCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375036	.	2/2	.	.	.	.	.	.	.	.	rs782463754	2/2	PASS	ENST00000390627	Transcript	.	.	ENSG00000211967	5610	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.361)	.	deleterious_low_confidence(0.02)	.	.	IGHV3-53	HGNC	.	.	UPI000011AAC7	SNV	IGHV3-53,missense_variant,p.Arg85Gln,ENST00000390627,;	475	111	103	SUCCESS
IGHV3-66	28412	.	GRCh37	14	107131127	107131127	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782270470	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	65	0	ENST00000390632.2:c.254G>A	p.Arg85Gln	p.R85Q	ENST00000390632		85	cGa/cAa	0	.	.	.	.	.	T	R/Q	IG_V_gene	YES	.	254	RADIA|MUTECT|VARSCANS	.	TGAATCGGCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375041	.	2/2	.	.	.	.	.	.	.	.	rs782270470	2/2	PASS	ENST00000390632	Transcript	.	.	ENSG00000211972	5619	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.801)	.	deleterious_low_confidence(0.03)	.	.	IGHV3-66	HGNC	.	.	UPI000011AAC3	SNV	IGHV3-66,missense_variant,p.Arg85Gln,ENST00000390632,;IGHVII-65-1,upstream_gene_variant,,ENST00000519992,;	333	65	71	SUCCESS
PSMB5	5693	.	GRCh37	14	23495455	23495455	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs60224002	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	13	74	0	ENST00000361611.6:c.635A>G	p.Tyr212Cys	p.Y212C	ENST00000361611	NM_002797.3	212	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9584.1	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCATAGGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51476,hmmpanther:PTHR11599:SF51,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235	.	.	ENSP00000355325	.	3/3	.	.	.	.	.	.	.	.	rs60224002	3/3	PASS	ENST00000361611	Transcript	.	.	ENSG00000100804	9542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.28)	.	PSB5_HUMAN	PSMB5	HGNC	.	.	UPI000013C701	SNV	PSMB5,missense_variant,p.Tyr212Cys,ENST00000361611,;PSMB5,missense_variant,p.Tyr109Cys,ENST00000425762,;PSMB5,3_prime_UTR_variant,,ENST00000460922,;PSMB5,3_prime_UTR_variant,,ENST00000493471,;PSMB5,intron_variant,,ENST00000555895,;PSMB5,downstream_gene_variant,,ENST00000334454,;	899	74	58	SUCCESS
CHURC1	91612	.	GRCh37	14	65398907	65398907	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1468568516	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	31	94	0	ENST00000549115.1:c.379A>G	p.Ile127Val	p.I127V	ENST00000549115		127	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS32101.2	382	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTATTCTC	NONE	.	.	hmmpanther:PTHR31931,Pfam_domain:PF06573	.	.	ENSP00000475473	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000607599	Transcript	.	.	ENSG00000258289	20099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.48)	.	CHUR_HUMAN	CHURC1	HGNC	H0YIM9_HUMAN	.	UPI000059D262	SNV	CHURC1,missense_variant,p.Ile127Val,ENST00000549115,;CHURC1,missense_variant,p.Tyr103Cys,ENST00000548752,;CHURC1,missense_variant,p.Ile100Val,ENST00000552002,;CHURC1,missense_variant,p.Ile101Val,ENST00000359118,;CHURC1,missense_variant,p.Ile128Val,ENST00000607599,;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000549987,;CHURC1,intron_variant,,ENST00000551947,;CHURC1-FNTB,intron_variant,,ENST00000553743,;CHURC1,intron_variant,,ENST00000551093,;FNTB,intron_variant,,ENST00000542227,;CHURC1,downstream_gene_variant,,ENST00000547625,;CHURC1-FNTB,missense_variant,p.Ile73Val,ENST00000551823,;CHURC1-FNTB,intron_variant,,ENST00000552941,;	436	94	104	SUCCESS
NPAP1	23742	.	GRCh37	15	24923800	24923800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	31	0	ENST00000329468.2:c.2786C>A	p.Thr929Lys	p.T929K	ENST00000329468	NM_018958.2	929	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS10015.1	2786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAACATCTC	BUFFER|p.P931S|c.2791C>T|3	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.21)	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,missense_variant,p.Thr929Lys,ENST00000329468,;	3260	31	33	SUCCESS
SPTBN5	51332	.	GRCh37	15	42178394	42178394	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	51	0	ENST00000320955.6:c.1059C>T	p.Thr353=	p.T353=	ENST00000320955	NM_016642.3	353	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS61599.1	1059	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGTGCG	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000317790	.	7/68	.	.	.	.	.	.	.	.	.	7/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,synonymous_variant,p.%3D,ENST00000320955,;	1287	51	64	SUCCESS
PLA2G4E	123745	.	GRCh37	15	42280320	42280320	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	37	0	ENST00000399518.3:c.1758G>T	p.Leu586=	p.L586=	ENST00000399518	NM_001206670.1	586	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS55962.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCAGCAG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF24,Gene3D:3.40.1090.10,Pfam_domain:PF01735,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000382434	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000399518	Transcript	.	.	ENSG00000188089	24791	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PLA2G4E	HGNC	B7WPN2_HUMAN	.	UPI0000E59BE5	SNV	PLA2G4E,synonymous_variant,p.%3D,ENST00000399518,;PLA2G4E,synonymous_variant,p.%3D,ENST00000413860,;CTD-2382E5.1,intron_variant,,ENST00000499478,;PLA2G4E,non_coding_transcript_exon_variant,,ENST00000547930,;PLA2G4E,non_coding_transcript_exon_variant,,ENST00000551073,;	2245	37	29	SUCCESS
SEMA6D	80031	.	GRCh37	15	48060868	48060868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	56	0	ENST00000316364.5:c.1856C>A	p.Thr619Lys	p.T619K	ENST00000316364	NM_153618.1	619	aCa/aAa	0	.	.	.	.	.	A	T/K	protein_coding	YES	CCDS32225.1	1856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGACAAGCT	NONE	.	.	hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65	.	.	ENSP00000324857	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000316364	Transcript	.	.	ENSG00000137872	16770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	tolerated(0.92)	.	SEM6D_HUMAN	SEMA6D	HGNC	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN	.	UPI000006E201	SNV	SEMA6D,missense_variant,p.Thr83Lys,ENST00000560006,;SEMA6D,missense_variant,p.Thr619Lys,ENST00000536845,;SEMA6D,missense_variant,p.Thr600Lys,ENST00000389433,;SEMA6D,missense_variant,p.Thr619Lys,ENST00000316364,;SEMA6D,intron_variant,,ENST00000389432,;SEMA6D,intron_variant,,ENST00000537942,;SEMA6D,intron_variant,,ENST00000358066,;SEMA6D,intron_variant,,ENST00000354744,;SEMA6D,intron_variant,,ENST00000389428,;SEMA6D,intron_variant,,ENST00000355997,;SEMA6D,intron_variant,,ENST00000558014,;SEMA6D,intron_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000389425,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	2295	56	58	SUCCESS
CGNL1	84952	.	GRCh37	15	57730466	57730466	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs141997044	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	82	0	ENST00000281282.5:c.269A>G	p.Asn90Ser	p.N90S	ENST00000281282	NM_032866.4	90	aAt/aGt	0	G:0	G:0	.	G:0.0014	.	G	N/S	protein_coding	YES	CCDS10161.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAATGGTT	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0005	ENSP00000281282	G:0.001	2/19	.	.	.	.	.	.	.	.	rs141997044	2/19	PASS	ENST00000281282	Transcript	1	G:0.0004	ENSG00000128849	25931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	G:0	tolerated(0.11)	.	CGNL1_HUMAN	CGNL1	HGNC	.	.	UPI000019B4EF	SNV	CGNL1,missense_variant,p.Asn90Ser,ENST00000281282,;CGNL1,downstream_gene_variant,,ENST00000559194,;	347	82	71	SUCCESS
BNC1	646	.	GRCh37	15	83932654	83932654	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	113	0	ENST00000345382.2:c.1349G>A	p.Cys450Tyr	p.C450Y	ENST00000345382	NM_001717.3	450	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS10324.1	1349	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTACAGTCT	NONE	.	.	hmmpanther:PTHR15021:SF1,hmmpanther:PTHR15021	.	.	ENSP00000307041	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000345382	Transcript	.	.	ENSG00000169594	1081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	BNC1_HUMAN	BNC1	HGNC	.	.	UPI0000126796	SNV	BNC1,missense_variant,p.Cys450Tyr,ENST00000345382,;BNC1,missense_variant,p.Cys443Tyr,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;	1435	113	97	SUCCESS
PDE8A	5151	.	GRCh37	15	85664189	85664189	+	synonymous_variant	Silent	SNP	G	G	A	rs761306986	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	26	54	0	ENST00000310298.4:c.1896G>A	p.Leu632=	p.L632=	ENST00000310298		632	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS10336.1	1896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGGCCTT	NONE	.	.	hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604,Prints_domain:PR00387	.	.	ENSP00000311453	.	19/23	.	.	.	.	.	.	.	.	rs761306986	19/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,synonymous_variant,p.%3D,ENST00000394553,;PDE8A,synonymous_variant,p.%3D,ENST00000339708,;PDE8A,synonymous_variant,p.%3D,ENST00000310298,;PDE8A,synonymous_variant,p.%3D,ENST00000557957,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000561024,;PDE8A,downstream_gene_variant,,ENST00000561374,;PDE8A,downstream_gene_variant,,ENST00000560333,;	2148	54	65	SUCCESS
TPSD1	23430	.	GRCh37	16	1306673	1306673	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774535073	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	61	0	ENST00000211076.3:c.239C>T	p.Ala80Val	p.A80V	ENST00000211076	NM_012217.2	80	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10432.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGCGCACT	NONE	byFrequency	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF96,PROSITE_patterns:PS00134,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000211076	.	2/5	.	.	.	.	.	.	.	.	rs774535073,COSM967154	2/5	PASS	ENST00000211076	Transcript	.	.	ENSG00000095917	14118	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.264)	.	deleterious(0.01)	0,1	TRYD_HUMAN	TPSD1	HGNC	.	.	UPI000007066B	SNV	TPSD1,missense_variant,p.Ala80Val,ENST00000211076,;TPSD1,missense_variant,p.Ala73Val,ENST00000397534,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;RP11-616M22.5,upstream_gene_variant,,ENST00000566997,;	387	61	62	SUCCESS
EME2	197342	.	GRCh37	16	1826218	1826218	+	synonymous_variant	Silent	SNP	C	C	T	rs767527361	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	31	0	ENST00000568449.1:c.1119C>T	p.Leu373=	p.L373=	ENST00000568449	NM_001257370.1	373	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58404.1	1119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCTCCTGCT	NONE	.	.	hmmpanther:PTHR21077,hmmpanther:PTHR21077:SF2	.	.	ENSP00000457353	.	8/8	.	.	.	.	.	.	.	.	rs767527361	8/8	PASS	ENST00000568449	Transcript	.	.	ENSG00000197774	27289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EME2_HUMAN	EME2	HGNC	.	.	UPI0000F57C10	SNV	EME2,synonymous_variant,p.%3D,ENST00000568449,;EME2,synonymous_variant,p.%3D,ENST00000307394,;SPSB3,downstream_gene_variant,,ENST00000301717,;MRPS34,upstream_gene_variant,,ENST00000397375,;NME3,upstream_gene_variant,,ENST00000564628,;SPSB3,downstream_gene_variant,,ENST00000566339,;SPSB3,downstream_gene_variant,,ENST00000569769,;MRPS34,upstream_gene_variant,,ENST00000177742,;NME3,upstream_gene_variant,,ENST00000219302,;NME3,upstream_gene_variant,,ENST00000563498,;EME2,synonymous_variant,p.%3D,ENST00000564182,;EME2,synonymous_variant,p.%3D,ENST00000561903,;EME2,non_coding_transcript_exon_variant,,ENST00000570069,;SPSB3,downstream_gene_variant,,ENST00000564070,;NME3,upstream_gene_variant,,ENST00000568561,;SPSB3,downstream_gene_variant,,ENST00000565550,;SPSB3,downstream_gene_variant,,ENST00000567868,;NME3,upstream_gene_variant,,ENST00000566600,;NME3,upstream_gene_variant,,ENST00000561637,;NME3,upstream_gene_variant,,ENST00000563367,;SPSB3,downstream_gene_variant,,ENST00000564709,;SPSB3,downstream_gene_variant,,ENST00000563668,;NME3,upstream_gene_variant,,ENST00000563854,;SPSB3,downstream_gene_variant,,ENST00000563741,;SPSB3,downstream_gene_variant,,ENST00000563705,;SPSB3,downstream_gene_variant,,ENST00000568416,;NME3,upstream_gene_variant,,ENST00000564252,;EME2,downstream_gene_variant,,ENST00000565326,;NME3,upstream_gene_variant,,ENST00000565379,;EME2,downstream_gene_variant,,ENST00000561564,;MRPS34,upstream_gene_variant,,ENST00000569585,;SPSB3,downstream_gene_variant,,ENST00000569380,;	1140	31	37	SUCCESS
ZNF267	10308	.	GRCh37	16	31927163	31927163	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs765648644	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	48	0	ENST00000300870.10:c.1593T>G	p.Cys531Trp	p.C531W	ENST00000300870	NM_003414.5	531	tgT/tgG	0	.	.	.	.	.	G	C/W	protein_coding	YES	CCDS32440.1	1593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGTTTCTC	NONE	byFrequency	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000300870	.	4/4	.	.	.	.	.	.	.	.	rs765648644	4/4	PASS	ENST00000300870	Transcript	.	.	ENSG00000185947	13060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.44)	.	tolerated(0.26)	.	ZN267_HUMAN	ZNF267	HGNC	H3BPW2_HUMAN	.	UPI000045696F	SNV	ZNF267,missense_variant,p.Cys531Trp,ENST00000300870,;ZNF267,downstream_gene_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000561814,;ZNF267,downstream_gene_variant,,ENST00000566541,;	1802	48	54	SUCCESS
TIGD7	91151	.	GRCh37	16	3350103	3350103	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	50	127	0	ENST00000396862.1:c.512T>A	p.Leu171Gln	p.L171Q	ENST00000396862	NM_033208.3	171	cTa/cAa	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS10500.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTAGACAC	NONE	.	.	hmmpanther:PTHR19303:SF224,hmmpanther:PTHR19303	.	.	ENSP00000380071	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396862	Transcript	.	.	ENSG00000140993	18331	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	tolerated(0.41)	.	TIGD7_HUMAN	TIGD7	HGNC	I3L2A8_HUMAN	.	UPI0000072536	SNV	TIGD7,missense_variant,p.Leu171Gln,ENST00000268674,;TIGD7,missense_variant,p.Leu171Gln,ENST00000396862,;ZNF263,3_prime_UTR_variant,,ENST00000575332,;ZNF263,intron_variant,,ENST00000574674,;TIGD7,downstream_gene_variant,,ENST00000573608,;TIGD7,downstream_gene_variant,,ENST00000570634,;TIGD7,downstream_gene_variant,,ENST00000573695,;TIGD7,downstream_gene_variant,,ENST00000576104,;TIGD7,downstream_gene_variant,,ENST00000571748,;TIGD7,downstream_gene_variant,,ENST00000572297,;TIGD7,downstream_gene_variant,,ENST00000574598,;	2341	127	145	SUCCESS
NLRC3	197358	.	GRCh37	16	3613898	3613898	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs761093276	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	12	0	ENST00000359128.5:c.1040C>A	p.Thr347Lys	p.T347K	ENST00000359128		347	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	.	1181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCGTCCTG	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF16	.	.	ENSP00000414415	.	3/19	.	.	.	.	.	.	.	.	rs761093276	3/19	PASS	ENST00000448023	Transcript	.	.	ENSG00000167984	29889	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.77)	.	.	NLRC3	HGNC	C9JLH9_HUMAN	.	UPI0000246E58	SNV	NLRC3,missense_variant,p.Thr347Lys,ENST00000301749,;NLRC3,missense_variant,p.Thr329Lys,ENST00000324659,;NLRC3,missense_variant,p.Thr347Lys,ENST00000359128,;NLRC3,missense_variant,p.Thr394Lys,ENST00000448023,;NLRC3,non_coding_transcript_exon_variant,,ENST00000603128,;NLRC3,non_coding_transcript_exon_variant,,ENST00000419350,;NLRC3,downstream_gene_variant,,ENST00000603055,;NLRC3,missense_variant,p.Thr394Lys,ENST00000603507,;	1368	12	17	SUCCESS
DECR2	26063	.	GRCh37	16	460264	460264	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	63	0	ENST00000219481.5:c.359G>T	p.Cys120Phe	p.C120F	ENST00000219481	NM_020664.3	120	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS10409.1	359	MUTECT|MUSE	.	CCTGTGCCCCG	NONE	.	.	hmmpanther:PTHR24315:SF0,hmmpanther:PTHR24315,Gene3D:3.40.50.720,Pfam_domain:PF13561,SMART_domains:SM00822,Superfamily_domains:SSF51735	.	.	ENSP00000219481	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000219481	Transcript	.	.	ENSG00000242612	2754	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	DECR2_HUMAN	DECR2	HGNC	Q9H3W9_HUMAN	.	UPI000003BBDC	SNV	DECR2,missense_variant,p.Cys108Phe,ENST00000424398,;DECR2,missense_variant,p.Cys120Phe,ENST00000219481,;DECR2,synonymous_variant,p.%3D,ENST00000397710,;DECR2,non_coding_transcript_exon_variant,,ENST00000461947,;DECR2,downstream_gene_variant,,ENST00000461802,;DECR2,missense_variant,p.Cys53Phe,ENST00000429116,;DECR2,synonymous_variant,p.%3D,ENST00000439661,;NME4,3_prime_UTR_variant,,ENST00000444498,;DECR2,3_prime_UTR_variant,,ENST00000437024,;DECR2,3_prime_UTR_variant,,ENST00000445291,;DECR2,non_coding_transcript_exon_variant,,ENST00000469922,;DECR2,non_coding_transcript_exon_variant,,ENST00000465166,;DECR2,non_coding_transcript_exon_variant,,ENST00000461749,;	497	63	44	SUCCESS
GPR97	0	.	GRCh37	16	57717987	57717987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	51	0	ENST00000333493.4:c.1025G>T	p.Gly342Val	p.G342V	ENST00000333493	NM_170776.4	342	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS10786.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGGGGCTG	NONE	.	.	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF267,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000332900	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000333493	Transcript	.	.	ENSG00000182885	13728	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	GPR97_HUMAN	GPR97	HGNC	H3BS78_HUMAN,F8W8F7_HUMAN	.	UPI000003C9E1	SNV	GPR97,missense_variant,p.Gly222Val,ENST00000450388,;GPR97,missense_variant,p.Gly132Val,ENST00000327655,;GPR97,missense_variant,p.Gly342Val,ENST00000333493,;RP11-405F3.4,intron_variant,,ENST00000563062,;GPR97,intron_variant,,ENST00000569977,;GPR97,intron_variant,,ENST00000567991,;	1186	51	61	SUCCESS
CDH11	1009	.	GRCh37	16	64982614	64982614	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	54	0	ENST00000268603.4:c.1895-612A>G		p.*632*	ENST00000268603	NM_001797.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10803.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATAGCAT	NONE	.	.	.	.	.	ENSP00000268603	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODIFIER	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,synonymous_variant,p.%3D,ENST00000394156,;CDH11,intron_variant,,ENST00000268603,;CDH11,intron_variant,,ENST00000566827,;	.	54	50	SUCCESS
CDH16	1014	.	GRCh37	16	66945111	66945111	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779352583	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	24	0	ENST00000299752.4:c.1898C>T	p.Thr633Met	p.T633M	ENST00000299752	NM_001204744.1	633	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS10823.1	1898	RADIA|SOMATICSNIPER|VARSCANS	.	GCACCGTGTAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF1,hmmpanther:PTHR24028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000299752	.	14/18	.	.	.	.	.	.	.	.	rs779352583	14/18	PASS	ENST00000299752	Transcript	.	.	ENSG00000166589	1755	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.937)	.	deleterious(0.02)	.	CAD16_HUMAN	CDH16	HGNC	J3QLA1_HUMAN	.	UPI0000126DB1	SNV	CDH16,missense_variant,p.Thr553Met,ENST00000570262,;CDH16,missense_variant,p.Thr633Met,ENST00000565796,;CDH16,missense_variant,p.Thr633Met,ENST00000394055,;CDH16,missense_variant,p.Thr536Met,ENST00000568632,;CDH16,missense_variant,p.Thr633Met,ENST00000299752,;CDH16,downstream_gene_variant,,ENST00000565235,;CDH16,downstream_gene_variant,,ENST00000567009,;CDH16,3_prime_UTR_variant,,ENST00000567269,;CDH16,3_prime_UTR_variant,,ENST00000568698,;	2092	25	24	SUCCESS
C16orf13	0	.	GRCh37	16	684899	684899	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	21	0	ENST00000301686.8:c.478C>T	p.Leu160Phe	p.L160F	ENST00000301686	NM_032366.3	160	Ctc/Ttc	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42091.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGCATCA	NONE	.	.	.	.	.	ENSP00000440765	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397666	Transcript	.	.	ENSG00000130731	14141	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP013_HUMAN	C16orf13	HGNC	D3DU57_HUMAN	.	UPI0000D60E75	SNV	C16orf13,missense_variant,p.Leu160Phe,ENST00000301686,;C16orf13,intron_variant,,ENST00000565163,;C16orf13,intron_variant,,ENST00000397664,;C16orf13,intron_variant,,ENST00000397665,;C16orf13,intron_variant,,ENST00000338401,;C16orf13,intron_variant,,ENST00000397666,;C16orf13,intron_variant,,ENST00000568773,;C16orf13,downstream_gene_variant,,ENST00000568830,;WFIKKN1,downstream_gene_variant,,ENST00000319070,;C16orf13,3_prime_UTR_variant,,ENST00000456420,;C16orf13,3_prime_UTR_variant,,ENST00000564039,;C16orf13,3_prime_UTR_variant,,ENST00000568077,;C16orf13,non_coding_transcript_exon_variant,,ENST00000448973,;C16orf13,downstream_gene_variant,,ENST00000565799,;WFIKKN1,downstream_gene_variant,,ENST00000573440,;	.	21	19	SUCCESS
WDR90	197335	.	GRCh37	16	709346	709346	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1462987205	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	81	0	ENST00000293879.4:c.3154G>A	p.Val1052Ile	p.V1052I	ENST00000293879		1052	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS42092.1	3154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGTCTGT	NONE	.	.	hmmpanther:PTHR13720:SF10,hmmpanther:PTHR13720	.	.	ENSP00000293879	.	26/41	.	.	.	.	.	.	.	.	.	26/41	PASS	ENST00000293879	Transcript	.	.	ENSG00000161996	26960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	WDR90_HUMAN	WDR90	HGNC	.	.	UPI0000D67C48	SNV	WDR90,missense_variant,p.Val1052Ile,ENST00000549091,;WDR90,missense_variant,p.Val35Ile,ENST00000550739,;WDR90,missense_variant,p.Val1052Ile,ENST00000293879,;LA16c-349E10.1,upstream_gene_variant,,ENST00000573609,;WDR90,non_coding_transcript_exon_variant,,ENST00000548844,;WDR90,upstream_gene_variant,,ENST00000547543,;WDR90,upstream_gene_variant,,ENST00000548603,;WDR90,downstream_gene_variant,,ENST00000552648,;WDR90,missense_variant,p.Val357Ile,ENST00000552728,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;WDR90,non_coding_transcript_exon_variant,,ENST00000552683,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,downstream_gene_variant,,ENST00000549648,;WDR90,upstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000550902,;WDR90,upstream_gene_variant,,ENST00000546923,;WDR90,downstream_gene_variant,,ENST00000548859,;	3154	81	46	SUCCESS
RBFOX1	54715	.	GRCh37	16	7760685	7760685	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs369122393	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	108	0	ENST00000547338.1:c.1132G>T	p.Val378Phe	p.V378F	ENST00000547338	NM_001142334.1	378	Gtt/Ttt	0	A:0	.	.	.	.	T	V/F	protein_coding	YES	CCDS10531.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCGTTCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8	.	A:0.0001	ENSP00000309117	.	13/13	.	.	.	.	.	.	.	.	rs369122393	13/13	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	tolerated_low_confidence(0.12)	.	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,missense_variant,p.Val351Phe,ENST00000553186,;RBFOX1,missense_variant,p.Val383Phe,ENST00000340209,;RBFOX1,missense_variant,p.Val378Phe,ENST00000547338,;RBFOX1,missense_variant,p.Val399Phe,ENST00000311745,;RBFOX1,missense_variant,p.Val378Phe,ENST00000550418,;RBFOX1,3_prime_UTR_variant,,ENST00000552089,;RBFOX1,3_prime_UTR_variant,,ENST00000355637,;RBFOX1,3_prime_UTR_variant,,ENST00000567470,;RBFOX1,3_prime_UTR_variant,,ENST00000547372,;RBFOX1,intron_variant,,ENST00000436368,;RBFOX1,downstream_gene_variant,,ENST00000535565,;RBFOX1,downstream_gene_variant,,ENST00000422070,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	1447	108	103	SUCCESS
FANCA	2175	.	GRCh37	16	89813065	89813065	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	36	0	ENST00000389301.3:c.3440A>T	p.Asp1147Val	p.D1147V	ENST00000389301	NM_000135.2	1147	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS32515.1	3440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGTCTCTG	NONE	.	.	hmmpanther:PTHR12047	.	.	ENSP00000373952	.	35/43	.	.	.	.	.	.	.	.	.	35/43	PASS	ENST00000389301	Transcript	.	.	ENSG00000187741	3582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	tolerated(0.08)	.	FANCA_HUMAN	FANCA	HGNC	H3BT53_HUMAN	.	UPI0000520A1A	SNV	FANCA,missense_variant,p.Asp1147Val,ENST00000389301,;FANCA,missense_variant,p.Asp1147Val,ENST00000568369,;FANCA,upstream_gene_variant,,ENST00000567879,;FANCA,upstream_gene_variant,,ENST00000564475,;FANCA,upstream_gene_variant,,ENST00000564870,;FANCA,missense_variant,p.Asp97Val,ENST00000568626,;FANCA,3_prime_UTR_variant,,ENST00000561660,;FANCA,3_prime_UTR_variant,,ENST00000567988,;FANCA,non_coding_transcript_exon_variant,,ENST00000568983,;FANCA,non_coding_transcript_exon_variant,,ENST00000305699,;FANCA,upstream_gene_variant,,ENST00000564969,;FANCA,downstream_gene_variant,,ENST00000563510,;	3471	36	28	SUCCESS
SREBF1	6720	.	GRCh37	17	17721042	17721042	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	44	0	ENST00000261646.5:c.1372del	p.Glu458SerfsTer240	p.E458Sfs*240	ENST00000261646	NM_004176.4	458	Gag/ag	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS32583.1	1462	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGCTCCGAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	deletion	SREBF1,frameshift_variant,p.Glu458SerfsTer240,ENST00000338854,;SREBF1,frameshift_variant,p.Glu204SerfsTer240,ENST00000395757,;SREBF1,frameshift_variant,p.Glu488SerfsTer240,ENST00000355815,;SREBF1,frameshift_variant,p.Glu458SerfsTer240,ENST00000261646,;SREBF1,frameshift_variant,p.Glu458SerfsTer15,ENST00000435530,;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,upstream_gene_variant,,ENST00000478616,;SREBF1,downstream_gene_variant,,ENST00000577897,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,frameshift_variant,p.Glu87SerfsTer740,ENST00000395756,;SREBF1,frameshift_variant,p.Glu204SerfsTer15,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000583080,;SREBF1,non_coding_transcript_exon_variant,,ENST00000487401,;SREBF1,non_coding_transcript_exon_variant,,ENST00000469356,;SREBF1,non_coding_transcript_exon_variant,,ENST00000471445,;SREBF1,non_coding_transcript_exon_variant,,ENST00000580540,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000470247,;	1632	44	37	SUCCESS
UNC45B	146862	.	GRCh37	17	33495177	33495177	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	79	0	ENST00000268876.5:c.1249C>G	p.Leu417Val	p.L417V	ENST00000268876	NM_173167.2	417	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS11292.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGCTGGGA	NONE	.	.	hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Pfam_domain:PF11701,Superfamily_domains:SSF48371	.	.	ENSP00000268876	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000268876	Transcript	.	.	ENSG00000141161	14304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.252)	.	tolerated(0.21)	.	UN45B_HUMAN	UNC45B	HGNC	.	.	UPI0000074455	SNV	UNC45B,missense_variant,p.Leu417Val,ENST00000378449,;UNC45B,missense_variant,p.Leu417Val,ENST00000433649,;UNC45B,missense_variant,p.Leu417Val,ENST00000268876,;UNC45B,missense_variant,p.Leu417Val,ENST00000591048,;UNC45B,missense_variant,p.Leu417Val,ENST00000394570,;RP11-799D4.3,upstream_gene_variant,,ENST00000585646,;	1346	79	76	SUCCESS
KLHL11	55175	.	GRCh37	17	40010438	40010438	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	65	0	ENST00000319121.3:c.1681A>G	p.Thr561Ala	p.T561A	ENST00000319121	NM_018143.1	561	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11411.1	1681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTCTGAT	NONE	.	.	Superfamily_domains:0052715	.	.	ENSP00000314608	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319121	Transcript	.	.	ENSG00000178502	19008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.132)	.	deleterious(0.04)	.	KLH11_HUMAN	KLHL11	HGNC	.	.	UPI00000719F8	SNV	KLHL11,missense_variant,p.Thr561Ala,ENST00000319121,;RP11-156E6.1,upstream_gene_variant,,ENST00000560400,;	1742	65	53	SUCCESS
TMUB2	79089	.	GRCh37	17	42266396	42266396	+	synonymous_variant	Silent	SNP	C	C	T	rs1436925086	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	53	0	ENST00000538716.2:c.42C>T	p.Asp14=	p.D14=	ENST00000538716	NM_001076674.1	14	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS54134.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGACCCTGC	NONE	.	.	.	.	.	ENSP00000466971	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000587989	Transcript	.	.	ENSG00000168591	28459	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMUB2_HUMAN	TMUB2	HGNC	.	.	UPI0000201381	SNV	TMUB2,synonymous_variant,p.%3D,ENST00000587989,;TMUB2,synonymous_variant,p.%3D,ENST00000538716,;TMUB2,5_prime_UTR_variant,,ENST00000589856,;TMUB2,5_prime_UTR_variant,,ENST00000319511,;TMUB2,5_prime_UTR_variant,,ENST00000357984,;TMUB2,5_prime_UTR_variant,,ENST00000587172,;TMUB2,5_prime_UTR_variant,,ENST00000589785,;TMUB2,5_prime_UTR_variant,,ENST00000446571,;TMUB2,5_prime_UTR_variant,,ENST00000590235,;TMUB2,5_prime_UTR_variant,,ENST00000592825,;TMUB2,5_prime_UTR_variant,,ENST00000589184,;ATXN7L3,downstream_gene_variant,,ENST00000591295,;TMUB2,upstream_gene_variant,,ENST00000587630,;ATXN7L3,downstream_gene_variant,,ENST00000389384,;ATXN7L3,downstream_gene_variant,,ENST00000454077,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;TMUB2,5_prime_UTR_variant,,ENST00000588413,;TMUB2,5_prime_UTR_variant,,ENST00000587775,;TMUB2,5_prime_UTR_variant,,ENST00000587326,;	195	53	72	SUCCESS
TTLL6	284076	.	GRCh37	17	46878909	46878909	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	85	0	ENST00000393382.3:c.458T>A	p.Val153Glu	p.V153E	ENST00000393382	NM_001130918.1	153	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS45724.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCACCCGC	NONE	.	.	PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF96	.	.	ENSP00000377043	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000393382	Transcript	.	.	ENSG00000170703	26664	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TTLL6_HUMAN	TTLL6	HGNC	D3DTW0_HUMAN,C9JMG1_HUMAN	.	UPI00017BCE80	SNV	TTLL6,missense_variant,p.Val153Glu,ENST00000393382,;TTLL6,downstream_gene_variant,,ENST00000470462,;TTLL6,3_prime_UTR_variant,,ENST00000376681,;TTLL6,non_coding_transcript_exon_variant,,ENST00000490027,;TTLL6,non_coding_transcript_exon_variant,,ENST00000509809,;TTLL6,downstream_gene_variant,,ENST00000456415,;	600	85	64	SUCCESS
UBE2Z	65264	.	GRCh37	17	46988176	46988176	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	60	0	ENST00000360943.5:c.324C>T	p.Ile108=	p.I108=	ENST00000360943	NM_023079.4	108	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS11540.2	324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATCATGTC	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF9,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000354201	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000360943	Transcript	.	.	ENSG00000159202	25847	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE2Z_HUMAN	UBE2Z	HGNC	I3L4C5_HUMAN	.	UPI00005A774B	SNV	UBE2Z,synonymous_variant,p.%3D,ENST00000360943,;UBE2Z,5_prime_UTR_variant,,ENST00000511373,;UBE2Z,intron_variant,,ENST00000508468,;SUMO2P17,upstream_gene_variant,,ENST00000508743,;UBE2Z,synonymous_variant,p.%3D,ENST00000506498,;UBE2Z,5_prime_UTR_variant,,ENST00000504684,;UBE2Z,upstream_gene_variant,,ENST00000506271,;UBE2Z,upstream_gene_variant,,ENST00000513342,;	459	60	70	SUCCESS
DVL2	1856	.	GRCh37	17	7137468	7137468	+	synonymous_variant	Silent	SNP	G	G	A	rs1319899061	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	66	0	ENST00000005340.5:c.114C>T	p.Ile38=	p.I38=	ENST00000005340	NM_004422.2	38	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11091.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTGATGCG	NONE	.	.	Superfamily_domains:SSF54236,SMART_domains:SM00021,Pfam_domain:PF00778,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,PROSITE_profiles:PS50841	.	.	ENSP00000005340	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000005340	Transcript	.	.	ENSG00000004975	3086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DVL2_HUMAN	DVL2	HGNC	B4E2D6_HUMAN	.	UPI0000000DE9	SNV	DVL2,synonymous_variant,p.%3D,ENST00000575458,;DVL2,synonymous_variant,p.%3D,ENST00000575756,;DVL2,synonymous_variant,p.%3D,ENST00000005340,;PHF23,downstream_gene_variant,,ENST00000454255,;PHF23,downstream_gene_variant,,ENST00000570899,;PHF23,downstream_gene_variant,,ENST00000572789,;PHF23,downstream_gene_variant,,ENST00000574323,;PHF23,downstream_gene_variant,,ENST00000574236,;PHF23,downstream_gene_variant,,ENST00000573826,;PHF23,downstream_gene_variant,,ENST00000320316,;DVL2,upstream_gene_variant,,ENST00000574143,;PHF23,downstream_gene_variant,,ENST00000571362,;PHF23,downstream_gene_variant,,ENST00000576955,;PHF23,downstream_gene_variant,,ENST00000574407,;DVL2,upstream_gene_variant,,ENST00000574642,;PHF23,downstream_gene_variant,,ENST00000570753,;PHF23,downstream_gene_variant,,ENST00000574899,;DVL2,non_coding_transcript_exon_variant,,ENST00000576949,;DVL2,non_coding_transcript_exon_variant,,ENST00000572285,;DVL2,upstream_gene_variant,,ENST00000573354,;DVL2,upstream_gene_variant,,ENST00000577154,;DVL2,upstream_gene_variant,,ENST00000576439,;DVL2,upstream_gene_variant,,ENST00000574591,;	397	66	35	SUCCESS
TTYH2	94015	.	GRCh37	17	72233606	72233606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	39	0	ENST00000269346.4:c.588G>T	p.Met196Ile	p.M196I	ENST00000269346	NM_032646.5	196	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS32717.1	588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGGAGCT	NONE	.	.	hmmpanther:PTHR12424:SF6,hmmpanther:PTHR12424,Pfam_domain:PF04906	.	.	ENSP00000269346	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000269346	Transcript	.	.	ENSG00000141540	13877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.23)	.	TTYH2_HUMAN	TTYH2	HGNC	.	.	UPI00002001AA	SNV	TTYH2,missense_variant,p.Met175Ile,ENST00000529107,;TTYH2,missense_variant,p.Met196Ile,ENST00000269346,;TTYH2,upstream_gene_variant,,ENST00000534346,;TTYH2,non_coding_transcript_exon_variant,,ENST00000578825,;	662	39	33	SUCCESS
ITGB4	3691	.	GRCh37	17	73727379	73727379	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762334700	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	33	0	ENST00000200181.3:c.1145G>A	p.Arg382Gln	p.R382Q	ENST00000200181	NM_000213.3	382	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS11727.1	1145	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTTCGGACAG	NONE	byFrequency	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002513,SMART_domains:SM00187	.	.	ENSP00000200181	.	10/40	.	.	.	.	.	.	.	.	rs762334700,COSM1386023	10/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.119)	.	tolerated(0.12)	0,1	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Arg382Gln,ENST00000579662,;ITGB4,missense_variant,p.Arg382Gln,ENST00000450894,;ITGB4,missense_variant,p.Arg382Gln,ENST00000339591,;ITGB4,missense_variant,p.Arg382Gln,ENST00000449880,;ITGB4,missense_variant,p.Arg382Gln,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,upstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;	1332	33	33	SUCCESS
QRICH2	84074	.	GRCh37	17	74290071	74290071	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	37	0	ENST00000262765.5:c.239A>T	p.His80Leu	p.H80L	ENST00000262765	NM_032134.1	80	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS32741.1	239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGTGCTTA	NONE	.	.	.	.	.	ENSP00000262765	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000262765	Transcript	.	.	ENSG00000129646	25326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	deleterious(0.01)	.	QRIC2_HUMAN	QRICH2	HGNC	.	.	UPI000006FECD	SNV	QRICH2,missense_variant,p.His80Leu,ENST00000262765,;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;	419	37	26	SUCCESS
TP53	7157	.	GRCh37	17	7579591	7579591	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	.	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	29	0	ENST00000269305.4:c.97-1G>A		p.X33_splice	ENST00000269305	NM_001126112.2	33		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11118.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACTGTAG	SITE|p.?|c.97-1G>A|9,SITE|p.?|c.97-1G>A|8,SITE|p.?|c.97-1G>A|8,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.L35fs*9|c.102delC|3,BUFFER|p.P36fs*7|c.102_103insC|3,BUFFER|p.L35fs*9|c.102delC|3,BUFFER|p.?|c.97-2A>T|4,BUFFER|p.?|c.97-2A>T|8,BUFFER|p.?|c.97-2A>T|4	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	CS971912,TP53_g.11327G>A,TP53_g.11327G>C,COSM43759,COSM29761,COSM1610880,COSM437642,COSM218543,COSM1610881,COSM437643,COSM218542,COSM1610882,COSM3388237,COSM3717685,COSM3717684,COSM2745172	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	3/10	PRIMARY	.	.	.	.	5	1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000604348,;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000510385,;	.	29	28	SUCCESS
DNAH17	8632	.	GRCh37	17	76433836	76433836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	39	0	ENST00000389840.5:c.11902C>A	p.Pro3968Thr	p.P3968T	ENST00000389840		3968	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	.	11902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGGGCTGG	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374490	.	74/81	.	.	.	.	.	.	.	.	.	74/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.12)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Pro3969Thr,ENST00000585328,;DNAH17,missense_variant,p.Pro3968Thr,ENST00000389840,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,missense_variant,p.Pro1175Thr,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;	12027	39	42	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14764069	14764069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	39	0	ENST00000358984.4:c.1205C>A	p.Ser402Tyr	p.S402Y	ENST00000358984	NM_001145029.1	402	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS54182.1	1205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATCTACAA	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147	.	.	ENSP00000351875	.	7/36	.	.	.	.	.	.	.	.	.	7/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,missense_variant,p.Ser402Tyr,ENST00000447268,;ANKRD30B,missense_variant,p.Ser402Tyr,ENST00000358984,;RNU6-1210P,downstream_gene_variant,,ENST00000363775,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Ser402Tyr,ENST00000580206,;	1385	39	32	SUCCESS
CHST9	83539	.	GRCh37	18	24496571	24496571	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	21	133	0	ENST00000581714.1:c.984C>T	p.Val328=	p.V328=	ENST00000581714		328	gtC/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS42422.1	984	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGACTCC	NONE	.	.	Pfam_domain:PF03567,hmmpanther:PTHR12137:SF6,hmmpanther:PTHR12137	.	.	ENSP00000284224	.	6/6	.	.	.	.	.	.	.	.	COSM987291,COSM987292	6/6	PASS	ENST00000284224	Transcript	.	.	ENSG00000154080	19898	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	CHST9_HUMAN	CHST9	HGNC	.	.	UPI000006EC67	SNV	CHST9,synonymous_variant,p.%3D,ENST00000581714,;CHST9,synonymous_variant,p.%3D,ENST00000284224,;CHST9,3_prime_UTR_variant,,ENST00000580774,;AQP4-AS1,intron_variant,,ENST00000578701,;AQP4-AS1,intron_variant,,ENST00000582605,;AQP4-AS1,intron_variant,,ENST00000568797,;AQP4-AS1,intron_variant,,ENST00000579964,;	1262	133	96	SUCCESS
SLC39A6	25800	.	GRCh37	18	33690989	33690989	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	31	88	0	ENST00000269187.5:c.2115+33A>T		p.*705*	ENST00000269187	NM_012319.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42428.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGTCAATA	NONE	.	.	.	.	.	ENSP00000269187	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000269187	Transcript	.	.	ENSG00000141424	18607	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S39A6_HUMAN	SLC39A6	HGNC	K7EQ91_HUMAN	.	UPI000004EC93	SNV	SLC39A6,3_prime_UTR_variant,,ENST00000440549,;SLC39A6,intron_variant,,ENST00000269187,;SLC39A6,intron_variant,,ENST00000590986,;SLC39A6,downstream_gene_variant,,ENST00000586829,;	.	88	87	SUCCESS
TCEB3B	0	.	GRCh37	18	44560133	44560133	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	47	0	ENST00000332567.4:c.1503T>A	p.Ala501=	p.A501=	ENST00000332567	NM_016427.2	501	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11932.1	1503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCAGCTTC	NONE	.	.	hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141	.	.	ENSP00000331302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332567	Transcript	.	.	ENSG00000206181	30771	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOA2_HUMAN	TCEB3B	HGNC	.	.	UPI0000140A82	SNV	TCEB3B,synonymous_variant,p.%3D,ENST00000332567,;KATNAL2,intron_variant,,ENST00000245121,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,;	1856	47	55	SUCCESS
CCDC11	0	.	GRCh37	18	47788414	47788414	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs763621777	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	137	0	ENST00000398545.4:c.245G>T	p.Arg82Ile	p.R82I	ENST00000398545	NM_145020.3	82	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS11940.2	245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCTTGCT	NONE	.	.	hmmpanther:PTHR31183,hmmpanther:PTHR31183:SF1	.	.	ENSP00000381553	.	2/8	.	.	.	.	.	.	.	.	rs763621777	2/8	PASS	ENST00000398545	Transcript	.	.	ENSG00000172361	26530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	CCD11_HUMAN	CCDC11	HGNC	.	.	UPI000014C50D	SNV	CCDC11,missense_variant,p.Arg82Ile,ENST00000398545,;MBD1,downstream_gene_variant,,ENST00000585672,;MBD1,downstream_gene_variant,,ENST00000592060,;	363	137	118	SUCCESS
HMHA1	0	.	GRCh37	19	1083294	1083296	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	TCA	TCA	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	29	0	ENST00000313093.2:c.2899_2901del	p.Ile967del	p.I967del	ENST00000313093	NM_012292.3	966	cTCAtc/ctc	0	.	.	.	.	.	-	LI/L	protein_coding	YES	CCDS58637.1	2945-2947	VARSCANI*|PINDEL	.	AGACTCTCATCGTC	NONE	.	.	PROSITE_profiles:PS50238,hmmpanther:PTHR15228:SF18,hmmpanther:PTHR15228,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	.	.	ENSP00000439601	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000539243	Transcript	.	.	ENSG00000180448	17102	2	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMHA1_HUMAN	HMHA1	HGNC	O78181_HUMAN	.	UPI0001AE63E1	deletion	HMHA1,inframe_deletion,p.Ile967del,ENST00000313093,;HMHA1,inframe_deletion,p.Ile994del,ENST00000590214,;HMHA1,inframe_deletion,p.Ile983del,ENST00000539243,;HMHA1,inframe_deletion,p.Ile850del,ENST00000543365,;HMHA1,inframe_deletion,p.Ile835del,ENST00000536472,;HMHA1,inframe_deletion,p.Ile602del,ENST00000590577,;HMHA1,inframe_deletion,p.Ile971del,ENST00000586866,;POLR2E,downstream_gene_variant,,ENST00000586746,;POLR2E,downstream_gene_variant,,ENST00000215587,;HMHA1,non_coding_transcript_exon_variant,,ENST00000591169,;HMHA1,non_coding_transcript_exon_variant,,ENST00000590512,;POLR2E,downstream_gene_variant,,ENST00000590060,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,non_coding_transcript_exon_variant,,ENST00000592297,;HMHA1,non_coding_transcript_exon_variant,,ENST00000586378,;HMHA1,downstream_gene_variant,,ENST00000586937,;POLR2E,downstream_gene_variant,,ENST00000586817,;HMHA1,downstream_gene_variant,,ENST00000591293,;	3048-3050	29	22	SUCCESS
ECSIT	51295	.	GRCh37	19	11624014	11624014	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373672064	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	33	0	ENST00000270517.7:c.595C>T	p.Arg199Cys	p.R199C	ENST00000270517	NM_016581.4	199	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS12262.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGCACCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13113,Pfam_domain:PF06239	.	A:0.0001	ENSP00000270517	.	4/8	.	.	.	.	.	.	.	.	rs373672064	4/8	PASS	ENST00000270517	Transcript	.	.	ENSG00000130159	29548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ECSIT_HUMAN	ECSIT	HGNC	K7EPL5_HUMAN,K7EM98_HUMAN,K7EJI1_HUMAN,J3KTF5_HUMAN	.	UPI0000072F31	SNV	ECSIT,missense_variant,p.Arg199Cys,ENST00000252440,;ECSIT,missense_variant,p.Arg199Cys,ENST00000591104,;ECSIT,missense_variant,p.Arg83Cys,ENST00000592312,;ECSIT,missense_variant,p.Arg83Cys,ENST00000592665,;ECSIT,missense_variant,p.Arg199Cys,ENST00000590480,;ECSIT,missense_variant,p.Arg199Cys,ENST00000270517,;ECSIT,missense_variant,p.Arg83Cys,ENST00000585318,;ECSIT,intron_variant,,ENST00000588998,;ECSIT,intron_variant,,ENST00000417981,;RN7SL833P,downstream_gene_variant,,ENST00000498758,;ECSIT,intron_variant,,ENST00000591352,;ECSIT,3_prime_UTR_variant,,ENST00000593231,;ECSIT,upstream_gene_variant,,ENST00000592571,;	731	33	47	SUCCESS
CYP4F2	8529	.	GRCh37	19	16008270	16008270	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	33	0	ENST00000221700.6:c.152del	p.Phe51SerfsTer24	p.F51Sfs*24	ENST00000221700	NM_001082.3	51	tTc/tc	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS12336.1	152	VARSCANI*|PINDEL	.	TGTGGGAAACAC	NONE	.	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF45,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	.	.	ENSP00000221700	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000221700	Transcript	1	.	ENSG00000186115	2645	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP4F2_HUMAN	CYP4F2	HGNC	K7EK90_HUMAN	.	UPI0000052BE6	deletion	CYP4F2,frameshift_variant,p.Phe51SerfsTer24,ENST00000221700,;CYP4F2,frameshift_variant,p.Phe51SerfsTer24,ENST00000586927,;CYP4F2,5_prime_UTR_variant,,ENST00000011989,;CYP4F2,frameshift_variant,p.Phe51SerfsTer43,ENST00000587671,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000608168,;CYP4F2,intron_variant,,ENST00000392846,;AC005336.5,downstream_gene_variant,,ENST00000593183,;	248	33	27	SUCCESS
C2CD4C	126567	.	GRCh37	19	408161	408161	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	58	0	ENST00000332235.6:c.201C>T	p.Ala67=	p.A67=	ENST00000332235	NM_001136263.1	67	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS45890.1	201	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGCGGCCTG	NONE	.	.	hmmpanther:PTHR10024:SF116,hmmpanther:PTHR10024	.	.	ENSP00000328677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332235	Transcript	.	.	ENSG00000183186	29417	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2C4C_HUMAN	C2CD4C	HGNC	.	.	UPI00001C2016	SNV	C2CD4C,synonymous_variant,p.%3D,ENST00000332235,;	375	58	55	SUCCESS
ZNF28	7576	.	GRCh37	19	53304474	53304474	+	synonymous_variant	Silent	SNP	T	T	A	rs372999948	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	59	0	ENST00000457749.2:c.624A>T	p.Val208=	p.V208=	ENST00000457749	NM_006969.3	208	gtA/gtT	0	C:0.0002	.	.	.	.	A	V	protein_coding	YES	CCDS33093.2	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGTACATT	NONE	byCluster	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667	.	C:0	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	rs372999948	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,synonymous_variant,p.%3D,ENST00000391783,;ZNF28,synonymous_variant,p.%3D,ENST00000360272,;ZNF28,synonymous_variant,p.%3D,ENST00000457749,;ZNF28,synonymous_variant,p.%3D,ENST00000414252,;ZNF28,synonymous_variant,p.%3D,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;	744	59	62	SUCCESS
ZNF415	55786	.	GRCh37	19	53612425	53612425	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	18	53	0	ENST00000500065.4:c.873G>A	p.Arg291=	p.R291=	ENST00000500065	NM_001136038.2	291	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS54313.1	873	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTCCGATG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00614,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,synonymous_variant,p.%3D,ENST00000440291,;ZNF415,synonymous_variant,p.%3D,ENST00000455735,;ZNF415,synonymous_variant,p.%3D,ENST00000448501,;ZNF415,synonymous_variant,p.%3D,ENST00000601493,;ZNF415,synonymous_variant,p.%3D,ENST00000500065,;ZNF415,synonymous_variant,p.%3D,ENST00000243643,;ZNF415,synonymous_variant,p.%3D,ENST00000421033,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	1207	53	63	SUCCESS
PEG3	5178	.	GRCh37	19	57325652	57325652	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	18	67	1	ENST00000326441.9:c.4158G>A	p.Arg1386=	p.R1386=	ENST00000326441	NM_006210.2	1386	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS12948.1	4158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCCTCAG	NONE	.	.	.	.	.	ENSP00000326581	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000326441	Transcript	.	.	ENSG00000198300	8826	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG3_HUMAN	PEG3	HGNC	M0QXG1_HUMAN	.	UPI000006D36D	SNV	PEG3,synonymous_variant,p.%3D,ENST00000423103,;PEG3,synonymous_variant,p.%3D,ENST00000599577,;PEG3,synonymous_variant,p.%3D,ENST00000599534,;PEG3,synonymous_variant,p.%3D,ENST00000598410,;PEG3,synonymous_variant,p.%3D,ENST00000326441,;PEG3,synonymous_variant,p.%3D,ENST00000593695,;ZIM2,intron_variant,,ENST00000221722,;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000391708,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000595671,;	4522	68	61	SUCCESS
C3	718	.	GRCh37	19	6681964	6681966	+	inframe_deletion	In_Frame_Del	DEL	GAT	GAT	-	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	GAT	GAT	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	63	0	ENST00000245907.6:c.4336_4338del	p.Ile1446del	p.I1446del	ENST00000245907	NM_000064.2	1446	ATC/-	0	.	.	.	.	.	-	I/-	protein_coding	YES	CCDS32883.1	4336-4338	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGTAGATGATGA	NONE	.	.	hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Pfam_domain:PF07677,Gene3D:1ayoA00,Superfamily_domains:SSF49410	.	.	ENSP00000245907	.	35/41	.	.	.	.	.	.	.	.	.	35/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	deletion	C3,inframe_deletion,p.Ile153del,ENST00000596548,;C3,inframe_deletion,p.Ile1446del,ENST00000245907,;C3,intron_variant,,ENST00000601008,;C3,upstream_gene_variant,,ENST00000602229,;C3,upstream_gene_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;C3,upstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000596179,;C3,downstream_gene_variant,,ENST00000596238,;	4429-4431	63	50	SUCCESS
FASLG	356	.	GRCh37	1	172633481	172633481	+	synonymous_variant	Silent	SNP	C	C	T	rs143306673	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	39	109	0	ENST00000367721.2:c.402C>T	p.Pro134=	p.P134=	ENST00000367721	NM_000639.1	134	ccC/ccT	0	T:0.0002	.	.	.	.	T	P	protein_coding	YES	CCDS1304.1	402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCAGTCC	NONE	byCluster	.	hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF30	.	T:0	ENSP00000356694	.	3/4	.	.	.	.	.	.	.	.	rs143306673	3/4	PASS	ENST00000367721	Transcript	.	.	ENSG00000117560	11936	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNFL6_HUMAN	FASLG	HGNC	Q53ZZ1_HUMAN	.	UPI000000D91A	SNV	FASLG,missense_variant,p.Pro119Leu,ENST00000340030,;FASLG,synonymous_variant,p.%3D,ENST00000367721,;	586	109	181	SUCCESS
PYCR2	29920	.	GRCh37	1	226111752	226111752	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1324179032	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	13	0	ENST00000343818.6:c.59C>T	p.Thr20Met	p.T20M	ENST00000343818	NM_013328.3	20	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	.	59	MUTECT|MUSE|VARSCANS	.	CGGCCGTGAAG	NONE	.	.	Superfamily_domains:SSF51735,Gene3D:3.40.50.720,Pfam_domain:PF03807,hmmpanther:PTHR11645:SF4,hmmpanther:PTHR11645	.	.	ENSP00000414068	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000432920	Transcript	.	.	ENSG00000255835	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.499)	.	deleterious_low_confidence(0.01)	.	.	RP4-559A3.7	Clone_based_vega_gene	J3KR12_HUMAN	.	UPI0001AE79EB	SNV	RP4-559A3.7,missense_variant,p.Thr20Met,ENST00000432920,;PYCR2,missense_variant,p.Thr20Met,ENST00000343818,;PYCR2,non_coding_transcript_exon_variant,,ENST00000478402,;PYCR2,upstream_gene_variant,,ENST00000472798,;PYCR2,upstream_gene_variant,,ENST00000467298,;PYCR2,upstream_gene_variant,,ENST00000489681,;PYCR2,upstream_gene_variant,,ENST00000466127,;PYCR2,non_coding_transcript_exon_variant,,ENST00000366823,;PYCR2,upstream_gene_variant,,ENST00000446534,;	227	13	38	SUCCESS
CAPN9	10753	.	GRCh37	1	230914797	230914797	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs200401992	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	37	0	ENST00000271971.2:c.1032C>A	p.Asp344Glu	p.D344E	ENST00000271971	NM_006615.2	344	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS1586.1	1032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGCGAT	NONE	.	.	hmmpanther:PTHR10183:SF136,hmmpanther:PTHR10183,SMART_domains:SM00230,Superfamily_domains:SSF54001	.	.	ENSP00000271971	.	9/20	.	.	.	.	.	.	.	.	rs200401992	9/20	PASS	ENST00000271971	Transcript	.	.	ENSG00000135773	1486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.29)	.	CAN9_HUMAN	CAPN9	HGNC	.	.	UPI000006E882	SNV	CAPN9,missense_variant,p.Asp344Glu,ENST00000271971,;CAPN9,missense_variant,p.Asp281Glu,ENST00000366666,;CAPN9,missense_variant,p.Asp318Glu,ENST00000354537,;RP11-99J16__A.2,intron_variant,,ENST00000428480,;RP11-99J16__A.2,intron_variant,,ENST00000412344,;RP11-99J16__A.2,intron_variant,,ENST00000452640,;	1145	37	63	SUCCESS
ZNF436	80818	.	GRCh37	1	23689096	23689096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	105	0	ENST00000314011.4:c.779G>A	p.Ser260Asn	p.S260N	ENST00000314011	NM_001077195.1	260	aGc/aAc	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS233.1	779	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGCTGAAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000313582	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314011	Transcript	.	.	ENSG00000125945	20814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.37)	.	ZN436_HUMAN	ZNF436	HGNC	Q15921_HUMAN	.	UPI0000001669	SNV	ZNF436,missense_variant,p.Ser260Asn,ENST00000314011,;ZNF436,missense_variant,p.Ser260Asn,ENST00000374608,;	916	105	82	SUCCESS
OR2T12	127064	.	GRCh37	1	248458788	248458788	+	synonymous_variant	Silent	SNP	G	G	T	rs570331659	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	139	43	200	0	ENST00000317996.1:c.93C>A	p.Ala31=	p.A31=	ENST00000317996	NM_001004692.1	31	gcC/gcA	0	.	A:0.0015	.	A:0	.	T	A	protein_coding	YES	CCDS31110.1	93	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGTGGCCAG	NONE	byFrequency|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	A:0	.	ENSP00000324583	A:0	1/1	.	.	.	.	.	.	.	.	rs570331659,COSM3865112	1/1	PASS	ENST00000317996	Transcript	.	A:0.0004	ENSG00000177201	19592	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,synonymous_variant,p.%3D,ENST00000317996,;	93	200	182	SUCCESS
OR2T12	127064	.	GRCh37	1	248458789	248458789	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs773283799	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	43	200	0	ENST00000317996.1:c.92C>T	p.Ala31Val	p.A31V	ENST00000317996	NM_001004692.1	31	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31110.1	92	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGGCCAGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000324583	.	1/1	.	.	.	.	.	.	.	.	rs773283799,COSM907267	1/1	PASS	ENST00000317996	Transcript	.	.	ENSG00000177201	19592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(0.96)	0,1	O2T12_HUMAN	OR2T12	HGNC	.	.	UPI000004B235	SNV	OR2T12,missense_variant,p.Ala31Val,ENST00000317996,;	92	200	183	SUCCESS
ARID1A	8289	.	GRCh37	1	27106592	27106592	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	29	0	ENST00000324856.7:c.6203C>G	p.Ser2068Trp	p.S2068W	ENST00000324856	NM_006015.4	2068	tCg/tGg	0	.	.	.	.	.	G	S/W	protein_coding	YES	CCDS285.1	6203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCGGGGC	NONE	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	COSM3377106	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Ser1851Trp,ENST00000457599,;ARID1A,missense_variant,p.Ser1685Trp,ENST00000374152,;ARID1A,missense_variant,p.Ser965Trp,ENST00000430799,;ARID1A,missense_variant,p.Ser396Trp,ENST00000540690,;ARID1A,missense_variant,p.Ser2068Trp,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6574	29	37	SUCCESS
FGR	2268	.	GRCh37	1	27942229	27942229	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	64	0	ENST00000374003.3:c.809G>C	p.Gly270Ala	p.G270A	ENST00000374003	NM_001042729.1	270	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS305.1	809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGCCCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF224,hmmpanther:PTHR24418,PROSITE_patterns:PS00107,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000363117	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	deleterious(0.02)	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,missense_variant,p.Gly204Ala,ENST00000545953,;FGR,missense_variant,p.Gly270Ala,ENST00000374004,;FGR,missense_variant,p.Gly270Ala,ENST00000399173,;FGR,missense_variant,p.Gly270Ala,ENST00000374003,;FGR,missense_variant,p.Gly270Ala,ENST00000457296,;FGR,missense_variant,p.Gly270Ala,ENST00000374005,;	1098	64	67	SUCCESS
BAI2	0	.	GRCh37	1	32207460	32207460	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	56	0	ENST00000373658.3:c.1526G>C	p.Gly509Ala	p.G509A	ENST00000373658	NM_001703.2	509	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS346.2	1526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAGCCCTGC	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000362762	.	9/33	.	.	.	.	.	.	.	.	.	9/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,missense_variant,p.Gly497Ala,ENST00000398538,;BAI2,missense_variant,p.Gly509Ala,ENST00000373658,;BAI2,missense_variant,p.Gly488Ala,ENST00000533175,;BAI2,missense_variant,p.Gly442Ala,ENST00000398547,;BAI2,missense_variant,p.Gly447Ala,ENST00000420125,;BAI2,missense_variant,p.Gly509Ala,ENST00000527361,;BAI2,missense_variant,p.Gly457Ala,ENST00000398556,;BAI2,missense_variant,p.Gly509Ala,ENST00000257070,;BAI2,missense_variant,p.Gly442Ala,ENST00000398542,;BAI2,missense_variant,p.Gly509Ala,ENST00000373655,;BAI2,missense_variant,p.Gly151Ala,ENST00000440175,;BAI2,non_coding_transcript_exon_variant,,ENST00000530134,;BAI2,downstream_gene_variant,,ENST00000473952,;BAI2,downstream_gene_variant,,ENST00000468430,;BAI2,upstream_gene_variant,,ENST00000466109,;	1868	56	46	SUCCESS
MYCBP	26292	.	GRCh37	1	39339009	39339009	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	18	0	ENST00000397572.2:c.-32C>T		p.*11*	ENST00000397572	NM_012333.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS431.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCGGAGACC	NONE	.	.	.	.	.	ENSP00000380702	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000397572	Transcript	.	.	ENSG00000214114	7554	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCBP_HUMAN	MYCBP	HGNC	.	.	UPI000013CDE0	SNV	MYCBP,5_prime_UTR_variant,,ENST00000397572,;GJA9,intron_variant,,ENST00000454994,;GJA9,downstream_gene_variant,,ENST00000357771,;GJA9,downstream_gene_variant,,ENST00000360786,;RP5-864K19.4,intron_variant,,ENST00000456813,;RP5-864K19.4,intron_variant,,ENST00000433671,;RP5-864K19.4,upstream_gene_variant,,ENST00000443161,;MYCBP,non_coding_transcript_exon_variant,,ENST00000494695,;MYCBP,intron_variant,,ENST00000489803,;MYCBP,intron_variant,,ENST00000462027,;MYCBP,intron_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000465771,;MYCBP,upstream_gene_variant,,ENST00000495043,;	769	18	22	SUCCESS
DNAJB4	11080	.	GRCh37	1	78479284	78479284	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776099937	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	9	0	ENST00000370763.5:c.761C>T	p.Ala254Val	p.A254V	ENST00000370763	NM_007034.3	254	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS684.1	761	MUTECT|MUSE	.	TACTGCTAAAA	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223,Pfam_domain:PF01556,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	.	.	ENSP00000359799	.	2/3	.	.	.	.	.	.	.	.	rs776099937	2/3	PASS	ENST00000370763	Transcript	.	.	ENSG00000162616	14886	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.03)	.	tolerated(0.17)	.	DNJB4_HUMAN	DNAJB4	HGNC	C9JUL4_HUMAN,B4DNN2_HUMAN	.	UPI000000164F	SNV	DNAJB4,missense_variant,p.Ala254Val,ENST00000370763,;DNAJB4,downstream_gene_variant,,ENST00000426517,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000484662,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000487931,;GIPC2,intron_variant,,ENST00000476882,;DNAJB4,intron_variant,,ENST00000476396,;DNAJB4,downstream_gene_variant,,ENST00000477671,;	1018	9	10	SUCCESS
SLC44A3	126969	.	GRCh37	1	95357851	95357859	+	inframe_deletion	In_Frame_Del	DEL	TTTCACTGT	TTTCACTGT	-	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	TTTCACTGT	TTTCACTGT	.	.	.	.	.	.	.	.	.	.	.	.	.	181	54	312	0	ENST00000271227.6:c.1638_1646del	p.Thr547_Phe549del	p.T547_F549del	ENST00000271227	NM_001258340.1	545	tgTTTCACTGTt/tgt	0	.	.	.	.	.	-	CFTV/C	protein_coding	YES	CCDS44176.1	1635-1643	VARSCANI*|PINDEL	.	GGTGTGTTTCACTGTTTTTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13,Pfam_domain:PF04515	.	.	ENSP00000271227	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000271227	Transcript	.	.	ENSG00000143036	28689	3	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTL3_HUMAN	SLC44A3	HGNC	F8W7F3_HUMAN	.	UPI0000206066	deletion	SLC44A3,inframe_deletion,p.Thr511_Phe513del,ENST00000446120,;SLC44A3,inframe_deletion,p.Thr547_Phe549del,ENST00000271227,;SLC44A3,inframe_deletion,p.Thr514_Phe516del,ENST00000529450,;SLC44A3,inframe_deletion,p.Thr499_Phe501del,ENST00000467909,;SLC44A3,inframe_deletion,p.Thr467_Phe469del,ENST00000532427,;SLC44A3,inframe_deletion,p.Thr479_Phe481del,ENST00000527077,;SLC44A3,intron_variant,,ENST00000532670,;CNN3,downstream_gene_variant,,ENST00000538964,;CNN3,downstream_gene_variant,,ENST00000370206,;SLC44A3,downstream_gene_variant,,ENST00000530397,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;	1737-1745	312	235	SUCCESS
POLR3F	10621	.	GRCh37	20	18464200	18464200	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	rs1410277195	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	32	0	ENST00000377603.4:c.949T>C	p.Ter317GlnextTer1	p.*317Qext*1	ENST00000377603	NM_006466.2	317	Taa/Caa	0	.	.	.	.	.	C	*/Q	protein_coding	YES	CCDS13135.1	949	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AATTTTAATAG	BUFFER|p.E315Q|c.943G>C|3	.	.	.	.	.	ENSP00000366828	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000377603	Transcript	.	.	ENSG00000132664	15763	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RPC6_HUMAN	POLR3F	HGNC	Q05DB8_HUMAN	.	UPI0000134605	SNV	POLR3F,stop_lost,p.Ter317GlnextTer1,ENST00000377603,;RBBP9,downstream_gene_variant,,ENST00000337227,;POLR3F,non_coding_transcript_exon_variant,,ENST00000489753,;POLR3F,non_coding_transcript_exon_variant,,ENST00000497333,;POLR3F,non_coding_transcript_exon_variant,,ENST00000462997,;RPL21P3,upstream_gene_variant,,ENST00000395517,;	1329	32	30	SUCCESS
RP11-410N8.4	0	.	GRCh37	20	31196426	31196426	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	17	0	ENST00000375670.1:c.345G>A	p.Leu115=	p.L115=	ENST00000375670		115	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	.	345	MUTECT|MUSE	.	ACTCTGCCTCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000364822	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000375670	Transcript	.	.	ENSG00000204393	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YT011_HUMAN	RP11-410N8.4	Clone_based_vega_gene	.	.	UPI0000160B7F	SNV	RP11-410N8.4,synonymous_variant,p.%3D,ENST00000375671,;RP11-410N8.4,synonymous_variant,p.%3D,ENST00000375670,;	577	17	12	SUCCESS
ZNF335	63925	.	GRCh37	20	44592256	44592256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	17	69	0	ENST00000322927.2:c.1389G>T	p.Arg463Ser	p.R463S	ENST00000322927	NM_022095.3	463	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS13389.1	1389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGCCTCAA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF57667,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403	.	.	ENSP00000325326	.	9/28	.	.	.	.	.	.	.	.	.	9/28	PASS	ENST00000322927	Transcript	1	.	ENSG00000198026	15807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN335_HUMAN	ZNF335	HGNC	.	.	UPI0000001BC3	SNV	ZNF335,missense_variant,p.Arg463Ser,ENST00000322927,;ZNF335,missense_variant,p.Arg308Ser,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000475002,;ZNF335,downstream_gene_variant,,ENST00000476822,;ZNF335,downstream_gene_variant,,ENST00000494955,;	1490	69	56	SUCCESS
SULF2	55959	.	GRCh37	20	46365635	46365635	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201248076	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	90	0	ENST00000359930.4:c.227C>T	p.Ala76Val	p.A76V	ENST00000359930	NM_018837.3	76	gCg/gTg	0	.	A:0	.	A:0.0014	.	A	A/V	protein_coding	YES	CCDS13408.1	227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGCCCCG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	A:0	.	ENSP00000353007	A:0	3/21	.	.	.	.	.	.	.	.	rs201248076	3/21	PASS	ENST00000359930	Transcript	.	A:0.0002	ENSG00000196562	20392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	A:0	tolerated(0.13)	.	SULF2_HUMAN	SULF2	HGNC	Q5BKT1_HUMAN,B1AMP9_HUMAN	.	UPI000003FFBA	SNV	SULF2,missense_variant,p.Ala76Val,ENST00000359930,;SULF2,missense_variant,p.Ala76Val,ENST00000484875,;SULF2,missense_variant,p.Ala76Val,ENST00000467815,;SULF2,missense_variant,p.Ala76Val,ENST00000361612,;SULF2,missense_variant,p.Ala76Val,ENST00000437955,;SULF2,non_coding_transcript_exon_variant,,ENST00000478766,;SULF2,intron_variant,,ENST00000474450,;SULF2,non_coding_transcript_exon_variant,,ENST00000463221,;	1079	90	98	SUCCESS
IGHV1OR21-1	390530	.	GRCh37	21	10862930	10862930	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs773517454	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	9	74	0	ENST00000559480.1:c.226A>G	p.Ser76Gly	p.S76G	ENST00000559480		76	Agc/Ggc	0	.	.	.	.	.	G	S/G	IG_V_gene	YES	.	226	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCAGCACA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000453358	.	2/2	.	.	.	.	.	.	.	.	rs773517454	2/2	PASS	ENST00000559480	Transcript	.	.	ENSG00000169861	38040	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.67)	.	IV1U1_HUMAN	IGHV1OR21-1	HGNC	.	.	UPI000041AB26	SNV	IGHV1OR21-1,missense_variant,p.Ser76Gly,ENST00000559480,;IGHV1OR21-1,missense_variant,p.Ser76Gly,ENST00000302092,;	226	74	86	SUCCESS
PRAME	23532	.	GRCh37	22	22892516	22892516	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	16	53	0	ENST00000398741.1:c.585C>T	p.Leu195=	p.L195=	ENST00000398741	NM_206955.1	195	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS13801.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATGAGGTA	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,PIRSF_domain:PIRSF038286	.	.	ENSP00000445675	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000543184	Transcript	.	.	ENSG00000185686	9336	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRAME_HUMAN	PRAME	HGNC	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN	.	UPI0000000DDA	SNV	PRAME,synonymous_variant,p.%3D,ENST00000398743,;PRAME,synonymous_variant,p.%3D,ENST00000398741,;PRAME,synonymous_variant,p.%3D,ENST00000402697,;PRAME,synonymous_variant,p.%3D,ENST00000439106,;PRAME,synonymous_variant,p.%3D,ENST00000543184,;PRAME,synonymous_variant,p.%3D,ENST00000539862,;PRAME,synonymous_variant,p.%3D,ENST00000424204,;PRAME,synonymous_variant,p.%3D,ENST00000405655,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	1448	53	65	SUCCESS
IL2RB	3560	.	GRCh37	22	37540187	37540187	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147593802	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	47	0	ENST00000216223.5:c.26G>A	p.Arg9His	p.R9H	ENST00000216223	NM_000878.3	9	cGt/cAt	0	T:0.0005	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS13942.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGACGCCAG	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23037:SF23,hmmpanther:PTHR23037	T:0	T:0.0002	ENSP00000216223	T:0.002	2/10	.	.	.	.	.	.	.	.	rs147593802	2/10	PASS	ENST00000216223	Transcript	.	T:0.0004	ENSG00000100385	6009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	T:0	tolerated(0.57)	.	IL2RB_HUMAN	IL2RB	HGNC	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN	.	UPI000000128F	SNV	IL2RB,missense_variant,p.Arg9His,ENST00000445595,;IL2RB,missense_variant,p.Arg9His,ENST00000429622,;IL2RB,missense_variant,p.Arg9His,ENST00000453962,;IL2RB,missense_variant,p.Arg9His,ENST00000216223,;IL2RB,non_coding_transcript_exon_variant,,ENST00000461607,;IL2RB,upstream_gene_variant,,ENST00000440958,;	225	47	37	SUCCESS
PCDP1	0	.	GRCh37	2	120385299	120385299	+	synonymous_variant	Silent	SNP	G	G	A	rs202085071	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	42	116	0	ENST00000413369.3:c.1587G>A	p.Ser529=	p.S529=	ENST00000413369	NM_001271049.1	529	tcG/tcA	0	A:0	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS33282.2	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGCCCAA	NONE	byFrequency|byCluster|by1000G	.	.	A:0.002	A:0.0001	ENSP00000393222	A:0	16/24	.	.	.	.	.	.	.	.	rs202085071	16/24	PASS	ENST00000413369	Transcript	.	A:0.0004	ENSG00000163075	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PCDP1_HUMAN	PCDP1	Uniprot_gn	.	.	UPI0001D322F9	SNV	PCDP1,synonymous_variant,p.%3D,ENST00000413369,;PCDP1,synonymous_variant,p.%3D,ENST00000443972,;PCDP1,synonymous_variant,p.%3D,ENST00000602047,;PCDP1,downstream_gene_variant,,ENST00000599827,;PCDP1,non_coding_transcript_exon_variant,,ENST00000597189,;PCDP1,3_prime_UTR_variant,,ENST00000295220,;PCDP1,3_prime_UTR_variant,,ENST00000413057,;PCDP1,upstream_gene_variant,,ENST00000600951,;	1674	116	123	SUCCESS
PXDN	7837	.	GRCh37	2	1668790	1668790	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772042816	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	21	0	ENST00000252804.4:c.1348G>A	p.Val450Met	p.V450M	ENST00000252804	NM_012293.1	450	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS46221.1	1348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACGGTCT	SITE|p.V450M|c.1348G>A|3	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000252804	.	11/23	.	.	.	.	.	.	.	.	rs772042816,COSM84572	11/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.995)	.	deleterious(0)	0,1	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Val450Met,ENST00000252804,;PXDN,missense_variant,p.Val446Met,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;	1399	21	22	SUCCESS
XIRP2	129446	.	GRCh37	2	168098387	168098387	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	45	0	ENST00000409195.1:c.1143C>A	p.Asp381Glu	p.D381E	ENST00000409195	NM_152381.5	381	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS42769.1	1143	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACAAAGA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	8/11	.	.	.	.	.	.	.	.	COSM3407020,COSM3407021	8/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.149)	.	.	1,1	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Asp159Glu,ENST00000409605,;XIRP2,missense_variant,p.Asp159Glu,ENST00000409273,;XIRP2,missense_variant,p.Asp381Glu,ENST00000409195,;XIRP2,missense_variant,p.Asp414Glu,ENST00000420519,;XIRP2,missense_variant,p.Asp381Glu,ENST00000409756,;XIRP2,missense_variant,p.Asp381Glu,ENST00000409043,;XIRP2,missense_variant,p.Asp414Glu,ENST00000409728,;XIRP2,missense_variant,p.Asp381Glu,ENST00000295237,;	1232	45	54	SUCCESS
XIRP2	129446	.	GRCh37	2	168106758	168106758	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	34	163	0	ENST00000409195.1:c.8856A>G	p.Glu2952=	p.E2952=	ENST00000409195	NM_152381.5	2952	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS42769.1	8856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGAAGAACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409273,;XIRP2,synonymous_variant,p.%3D,ENST00000409195,;XIRP2,synonymous_variant,p.%3D,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8945	163	129	SUCCESS
FSIP2	401024	.	GRCh37	2	186671281	186671281	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	5	66	0	ENST00000424728.1:c.17248G>C	p.Glu5750Gln	p.E5750Q	ENST00000424728		5750	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS54426.1	17515	MUTECT|MUSE|VARSCANS	.	AAGAGGAAGAG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.042)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Glu5839Gln,ENST00000343098,;FSIP2,missense_variant,p.Glu5750Gln,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	17515	66	56	SUCCESS
CARF	79800	.	GRCh37	2	203834763	203834763	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749820336	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	56	255	0	ENST00000402905.3:c.1075G>A	p.Val359Ile	p.V359I	ENST00000402905	NM_001104586.1	359	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS42801.1	1075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGTAGAT	NONE	byFrequency	.	hmmpanther:PTHR14694,hmmpanther:PTHR14694:SF1,Pfam_domain:PF15299	.	.	ENSP00000384006	.	10/16	.	.	.	.	.	.	.	.	rs749820336	10/16	PASS	ENST00000402905	Transcript	.	.	ENSG00000138380	14435	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.442)	.	tolerated(0.58)	.	CARTF_HUMAN	CARF	HGNC	C9JT99_HUMAN,C9JZI6_HUMAN,C9JZ91_HUMAN,C9JSN4_HUMAN,C9JL40_HUMAN,C9JI92_HUMAN,C9JCD6_HUMAN,C9JBK9_HUMAN	.	UPI000007284D	SNV	CARF,missense_variant,p.Val359Ile,ENST00000320443,;CARF,missense_variant,p.Val271Ile,ENST00000545253,;CARF,missense_variant,p.Val359Ile,ENST00000438828,;CARF,missense_variant,p.Val283Ile,ENST00000428585,;CARF,missense_variant,p.Val359Ile,ENST00000402905,;CARF,missense_variant,p.Val257Ile,ENST00000414439,;CARF,missense_variant,p.Val283Ile,ENST00000545262,;CARF,3_prime_UTR_variant,,ENST00000456821,;WDR12,intron_variant,,ENST00000477723,;CARF,downstream_gene_variant,,ENST00000471271,;CARF,missense_variant,p.Val329Ile,ENST00000422368,;CARF,3_prime_UTR_variant,,ENST00000457031,;	1396	255	243	SUCCESS
ZDBF2	57683	.	GRCh37	2	207174747	207174747	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	18	89	0	ENST00000374423.3:c.5495G>A	p.Trp1832Ter	p.W1832*	ENST00000374423	NM_020923.1	1832	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS46501.1	5495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATGGTCTC	NONE	.	.	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	.	.	ENSP00000363545	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374423	Transcript	.	.	ENSG00000204186	29313	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZDBF2_HUMAN	ZDBF2	HGNC	N0DVB2_HUMAN	.	UPI000022BDE3	SNV	ZDBF2,stop_gained,p.Trp1832Ter,ENST00000374423,;	5881	89	69	SUCCESS
GPBAR1	151306	.	GRCh37	2	219127715	219127715	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs536606884	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	65	0	ENST00000479077.1:c.268T>G	p.Leu90Val	p.L90V	ENST00000479077		90	Ttg/Gtg	0	.	C:0	.	C:0	.	G	L/V	protein_coding	YES	CCDS46515.1	268	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACTTGGCT	NONE	by1000G	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24236:SF13,hmmpanther:PTHR24236,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	C:0.001	.	ENSP00000430886	C:0	2/2	.	.	.	.	.	.	.	.	rs536606884	2/2	PASS	ENST00000522678	Transcript	.	C:0.0002	ENSG00000179921	19680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.472)	C:0	tolerated(0.8)	.	GPBAR_HUMAN	GPBAR1	HGNC	.	.	UPI000000D72D	SNV	GPBAR1,missense_variant,p.Leu90Val,ENST00000521462,;GPBAR1,missense_variant,p.Leu90Val,ENST00000522678,;GPBAR1,missense_variant,p.Leu90Val,ENST00000479077,;GPBAR1,missense_variant,p.Leu90Val,ENST00000519574,;AAMP,downstream_gene_variant,,ENST00000422731,;AAMP,downstream_gene_variant,,ENST00000248450,;AAMP,downstream_gene_variant,,ENST00000420660,;AAMP,downstream_gene_variant,,ENST00000447885,;AAMP,downstream_gene_variant,,ENST00000444053,;AAMP,downstream_gene_variant,,ENST00000465442,;AAMP,downstream_gene_variant,,ENST00000475678,;AAMP,downstream_gene_variant,,ENST00000489767,;AAMP,downstream_gene_variant,,ENST00000494720,;AAMP,downstream_gene_variant,,ENST00000461911,;	1136	65	51	SUCCESS
EPHA4	2043	.	GRCh37	2	222347339	222347339	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	66	0	ENST00000281821.2:c.1051C>A	p.Pro351Thr	p.P351T	ENST00000281821	NM_004438.3	351	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS2447.1	1051	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGCTAC	NONE	.	.	Prints_domain:PR00014,Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000281821	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Pro351Thr,ENST00000281821,;EPHA4,missense_variant,p.Pro88Thr,ENST00000441679,;EPHA4,missense_variant,p.Pro351Thr,ENST00000409854,;EPHA4,missense_variant,p.Pro55Thr,ENST00000443796,;EPHA4,missense_variant,p.Pro300Thr,ENST00000392071,;EPHA4,missense_variant,p.Pro351Thr,ENST00000409938,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	1093	66	77	SUCCESS
SPHKAP	80309	.	GRCh37	2	228855885	228855885	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748254156	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	92	0	ENST00000392056.3:c.4790C>T	p.Pro1597Leu	p.P1597L	ENST00000392056	NM_001142644.1	1597	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS46537.1	4790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCGGTCCA	NONE	byFrequency	.	hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7,Pfam_domain:PF05716	.	.	ENSP00000375909	.	11/12	.	.	.	.	.	.	.	.	rs748254156	11/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,missense_variant,p.Pro1568Leu,ENST00000344657,;SPHKAP,missense_variant,p.Pro1597Leu,ENST00000392056,;SPHKAP,non_coding_transcript_exon_variant,,ENST00000490603,;	4837	92	87	SUCCESS
DNER	92737	.	GRCh37	2	230411752	230411752	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1441464155	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	32	0	ENST00000341772.4:c.904G>A	p.Val302Met	p.V302M	ENST00000341772	NM_139072.3	302	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS33390.1	904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACCACCA	NONE	.	.	hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58	.	.	ENSP00000345229	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,missense_variant,p.Val302Met,ENST00000341772,;	1039	32	51	SUCCESS
KCNJ13	3769	.	GRCh37	2	233632998	233632998	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	51	178	0	ENST00000233826.3:c.986T>C	p.Leu329Pro	p.L329P	ENST00000233826	NM_002242.4	329	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS2498.1	986	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACCAGAGGA	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF3,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	.	.	ENSP00000233826	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000233826	Transcript	.	.	ENSG00000115474	6259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.053)	.	tolerated(0.22)	.	IRK13_HUMAN	KCNJ13	HGNC	C9JWD6_HUMAN	.	UPI000012D8AF	SNV	KCNJ13,missense_variant,p.Leu329Pro,ENST00000410029,;KCNJ13,missense_variant,p.Leu329Pro,ENST00000233826,;KCNJ13,3_prime_UTR_variant,,ENST00000409779,;GIGYF2,5_prime_UTR_variant,,ENST00000421778,;GIGYF2,intron_variant,,ENST00000423659,;GIGYF2,intron_variant,,ENST00000373563,;GIGYF2,intron_variant,,ENST00000409480,;GIGYF2,intron_variant,,ENST00000409196,;GIGYF2,intron_variant,,ENST00000445650,;GIGYF2,intron_variant,,ENST00000455139,;GIGYF2,intron_variant,,ENST00000436349,;GIGYF2,intron_variant,,ENST00000440945,;GIGYF2,intron_variant,,ENST00000409451,;GIGYF2,intron_variant,,ENST00000409547,;GIGYF2,intron_variant,,ENST00000452341,;GIGYF2,intron_variant,,ENST00000373566,;GIGYF2,intron_variant,,ENST00000424414,;KCNJ13,downstream_gene_variant,,ENST00000438786,;KCNJ13,downstream_gene_variant,,ENST00000444142,;AC064852.4,upstream_gene_variant,,ENST00000427571,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000473170,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000475530,;GIGYF2,intron_variant,,ENST00000463554,;GIGYF2,intron_variant,,ENST00000424038,;	1126	178	143	SUCCESS
COL6A3	1293	.	GRCh37	2	238256451	238256451	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	51	0	ENST00000295550.4:c.7028G>C	p.Arg2343Thr	p.R2343T	ENST00000295550	NM_004369.3	2343	aGg/aCg	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS33412.1	7028	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCCTTCGG	NONE	.	.	hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83	.	.	ENSP00000295550	.	31/44	.	.	.	.	.	.	.	.	.	31/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Arg2143Thr,ENST00000346358,;COL6A3,missense_variant,p.Arg2142Thr,ENST00000347401,;COL6A3,missense_variant,p.Arg1736Thr,ENST00000472056,;COL6A3,missense_variant,p.Arg2137Thr,ENST00000353578,;COL6A3,missense_variant,p.Arg2137Thr,ENST00000409809,;COL6A3,missense_variant,p.Arg2343Thr,ENST00000295550,;COL6A3,splice_region_variant,,ENST00000491769,;	7481	51	39	SUCCESS
CAD	790	.	GRCh37	2	27460247	27460247	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	57	0	ENST00000264705.4:c.4397G>T	p.Gly1466Val	p.G1466V	ENST00000264705	NM_004341.3	1466	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1742.1	4397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGATTGA	NONE	.	.	hmmpanther:PTHR11405:SF5,hmmpanther:PTHR11405,Pfam_domain:PF13147,Superfamily_domains:SSF51556,Superfamily_domains:SSF52335	.	.	ENSP00000264705	.	28/44	.	.	.	.	.	.	.	.	.	28/44	PASS	ENST00000264705	Transcript	.	.	ENSG00000084774	1424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	PYR1_HUMAN	CAD	HGNC	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN	.	UPI000013D558	SNV	CAD,missense_variant,p.Gly118Val,ENST00000458503,;CAD,missense_variant,p.Gly1466Val,ENST00000264705,;CAD,missense_variant,p.Gly1403Val,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000456311,;CAD,upstream_gene_variant,,ENST00000428460,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,downstream_gene_variant,,ENST00000479002,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,upstream_gene_variant,,ENST00000487239,;	4559	57	41	SUCCESS
SMEK2	0	.	GRCh37	2	55825809	55825809	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	44	88	0	ENST00000345102.5:c.664G>A	p.Val222Ile	p.V222I	ENST00000345102	NM_001122964.1	222	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS46289.1	664	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGACATCCA	NONE	.	.	hmmpanther:PTHR23318:SF2,hmmpanther:PTHR23318,Pfam_domain:PF04802	.	.	ENSP00000339769	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000345102	Transcript	.	.	ENSG00000138041	29267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0.03)	.	P4R3B_HUMAN	SMEK2	HGNC	.	.	UPI00001C1DBA	SNV	SMEK2,missense_variant,p.Val222Ile,ENST00000345102,;SMEK2,missense_variant,p.Val222Ile,ENST00000272313,;SMEK2,missense_variant,p.Val222Ile,ENST00000407823,;SMEK2,downstream_gene_variant,,ENST00000470801,;	966	88	129	SUCCESS
GSK3B	2932	.	GRCh37	3	119631579	119631579	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	59	0	ENST00000316626.5:c.687T>G	p.Phe229Leu	p.F229L	ENST00000316626		229	ttT/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS2996.1	687	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCAAAGAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24057,hmmpanther:PTHR24057:SF8,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000324806	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000316626	Transcript	.	.	ENSG00000082701	4617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	GSK3B_HUMAN	GSK3B	HGNC	.	.	UPI000002ACBB	SNV	GSK3B,missense_variant,p.Phe229Leu,ENST00000316626,;GSK3B,missense_variant,p.Phe229Leu,ENST00000264235,;	919	59	78	SUCCESS
ATP13A4	84239	.	GRCh37	3	193176623	193176623	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	9	0	ENST00000342695.4:c.1674+247T>A		p.*558*	ENST00000342695	NM_032279.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3304.2	.	MUTECT|MUSE	.	TTGCCAGGCAT	NONE	.	.	.	.	.	ENSP00000339182	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342695	Transcript	.	.	ENSG00000127249	25422	.	.	MODIFIER	14/29	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT134_HUMAN	ATP13A4	HGNC	.	.	UPI0000520D50	SNV	ATP13A4,3_prime_UTR_variant,,ENST00000295548,;ATP13A4,intron_variant,,ENST00000392443,;ATP13A4,intron_variant,,ENST00000342695,;ATP13A4,intron_variant,,ENST00000490925,;ATP13A4,intron_variant,,ENST00000450950,;ATP13A4,intron_variant,,ENST00000428352,;	.	9	10	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28931588	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	132	0	ENST00000349496.5:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349496	NM_001904.3	32	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2694.1	94	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGACTCT	SITE|p.D32N|c.94G>A|92,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.WQQQSYLD25?|c.73_96del24|5,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,BUFFER|p.S29F|c.86C>T|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5661,COSM5668,COSM5672	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.686)	.	deleterious(0.05)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Asp32Asn,ENST00000349496,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000426215,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396185,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000405570,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396183,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	374	132	114	SUCCESS
BAP1	8314	.	GRCh37	3	52443900	52443900	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs758722091	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	27	0	ENST00000460680.1:c.-6G>A		p.*2*	ENST00000460680	NM_004656.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2853.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCGCGGG	BUFFER|p.M1I|c.3G>A|4	.	.	.	.	.	ENSP00000417132	.	1/17	.	.	.	.	.	.	.	.	rs758722091	1/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,5_prime_UTR_variant,,ENST00000296288,;BAP1,5_prime_UTR_variant,,ENST00000460680,;PHF7,upstream_gene_variant,,ENST00000347025,;PHF7,upstream_gene_variant,,ENST00000461861,;PHF7,upstream_gene_variant,,ENST00000327906,;BAP1,upstream_gene_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000472337,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,5_prime_UTR_variant,,ENST00000490917,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,upstream_gene_variant,,ENST00000483984,;BAP1,upstream_gene_variant,,ENST00000471532,;	467	27	46	SUCCESS
ADAMTS9	56999	.	GRCh37	3	64633644	64633644	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	17	0	ENST00000498707.1:c.1682C>A	p.Ala561Asp	p.A561D	ENST00000498707	NM_182920.1	561	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS2903.1	1682	RADIA|MUTECT|MUSE|VARSCANS	.	CATCGGCCCAG	NONE	.	.	hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723	.	.	ENSP00000418735	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000498707	Transcript	.	.	ENSG00000163638	13202	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	ATS9_HUMAN	ADAMTS9	HGNC	B4E0E4_HUMAN	.	UPI00000463F0	SNV	ADAMTS9,missense_variant,p.Ala533Asp,ENST00000295903,;ADAMTS9,missense_variant,p.Ala561Asp,ENST00000498707,;ADAMTS9,downstream_gene_variant,,ENST00000459780,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,downstream_gene_variant,,ENST00000467119,;	2025	17	19	SUCCESS
OR5AC2	81050	.	GRCh37	3	97806470	97806470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	99	0	ENST00000358642.2:c.454G>T	p.Val152Leu	p.V152L	ENST00000358642	NM_054106.1	152	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS33796.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATGTAATT	BUFFER|p.S150L|c.449C>T|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000351466	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358642	Transcript	.	.	ENSG00000196578	15431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.36)	.	O5AC2_HUMAN	OR5AC2	HGNC	.	.	UPI0000441EFD	SNV	OR5AC2,missense_variant,p.Val152Leu,ENST00000358642,;	454	100	91	SUCCESS
KIAA1109	84162	.	GRCh37	4	123267816	123267816	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	50	0	ENST00000264501.4:c.12772A>G	p.Met4258Val	p.M4258V	ENST00000264501		4258	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS43267.1	12772	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATATGCGC	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	75/86	.	.	.	.	.	.	.	.	.	75/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.459)	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,missense_variant,p.Met634Val,ENST00000306802,;KIAA1109,missense_variant,p.Met927Val,ENST00000438707,;KIAA1109,missense_variant,p.Met4258Val,ENST00000264501,;KIAA1109,missense_variant,p.Met4258Val,ENST00000388738,;KIAA1109,downstream_gene_variant,,ENST00000442707,;KIAA1109,upstream_gene_variant,,ENST00000491933,;	13145	50	58	SUCCESS
PCDH7	5099	.	GRCh37	4	30724818	30724818	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	49	0	ENST00000361762.2:c.1774C>A	p.Leu592Met	p.L592M	ENST00000361762	NM_002589.2	592	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS54753.1	1774	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCCTGGTC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.424)	.	tolerated(0.05)	.	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Leu282Met,ENST00000511884,;PCDH7,missense_variant,p.Leu592Met,ENST00000543491,;PCDH7,missense_variant,p.Leu592Met,ENST00000361762,;PCDH7,non_coding_transcript_exon_variant,,ENST00000507864,;	1774	49	36	SUCCESS
EPB41L4A	64097	.	GRCh37	5	111600696	111600696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	78	0	ENST00000261486.5:c.451G>T	p.Asp151Tyr	p.D151Y	ENST00000261486	NM_022140.3	151	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS43350.1	451	MUSE|VARSCANS	.	TGGGTCATAAT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF11,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000261486	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000261486	Transcript	.	.	ENSG00000129595	13278	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	E41LA_HUMAN	EPB41L4A	HGNC	Q8NEH8_HUMAN	.	UPI000020C3F8	SNV	EPB41L4A,missense_variant,p.Asp151Tyr,ENST00000261486,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000512395,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000305368,;EPB41L4A,upstream_gene_variant,,ENST00000511405,;	728	78	72	SUCCESS
ACSL6	23305	.	GRCh37	5	131324528	131324528	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	37	0	ENST00000379240.1:c.547C>T	p.Pro183Ser	p.P183S	ENST00000379240		183	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS34229.1	622	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGGCCCA	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF125,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	.	.	ENSP00000368566	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000379264	Transcript	.	.	ENSG00000164398	16496	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.46)	.	tolerated(0.19)	.	ACSL6_HUMAN	ACSL6	HGNC	G3V1S9_HUMAN,C9JPA5_HUMAN,C9JK59_HUMAN,C9J4I1_HUMAN,C9J3Z0_HUMAN,B3KV64_HUMAN	.	UPI00004BA928	SNV	ACSL6,missense_variant,p.Pro183Ser,ENST00000379272,;ACSL6,missense_variant,p.Pro183Ser,ENST00000379240,;ACSL6,missense_variant,p.Pro92Ser,ENST00000544770,;ACSL6,missense_variant,p.Pro194Ser,ENST00000379246,;ACSL6,missense_variant,p.Pro183Ser,ENST00000543479,;ACSL6,missense_variant,p.Pro183Ser,ENST00000430403,;ACSL6,missense_variant,p.Pro208Ser,ENST00000296869,;ACSL6,missense_variant,p.Pro183Ser,ENST00000379244,;ACSL6,missense_variant,p.Pro183Ser,ENST00000379249,;ACSL6,missense_variant,p.Pro148Ser,ENST00000434099,;ACSL6,missense_variant,p.Pro208Ser,ENST00000379264,;ACSL6,missense_variant,p.Pro148Ser,ENST00000431707,;ACSL6,missense_variant,p.Pro148Ser,ENST00000357096,;ACSL6,missense_variant,p.Pro148Ser,ENST00000379255,;ACSL6,downstream_gene_variant,,ENST00000419502,;ACSL6,downstream_gene_variant,,ENST00000441995,;ACSL6,downstream_gene_variant,,ENST00000416557,;ACSL6,downstream_gene_variant,,ENST00000414078,;ACSL6,downstream_gene_variant,,ENST00000477640,;ACSL6,missense_variant,p.Pro183Ser,ENST00000413683,;ACSL6,upstream_gene_variant,,ENST00000489047,;ACSL6,downstream_gene_variant,,ENST00000469164,;	731	37	32	SUCCESS
SPOCK1	6695	.	GRCh37	5	136314459	136314459	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758168023	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	27	132	0	ENST00000394945.1:c.1204C>T	p.Arg402Trp	p.R402W	ENST00000394945	NM_004598.3	402	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4191.1	1204	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGTTCAT	NONE	byFrequency	.	hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036	.	.	ENSP00000378401	.	11/11	.	.	.	.	.	.	.	.	rs758168023	11/11	PASS	ENST00000394945	Transcript	.	.	ENSG00000152377	11251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	deleterious_low_confidence(0.05)	.	TICN1_HUMAN	SPOCK1	HGNC	D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN	.	UPI0000136F50	SNV	SPOCK1,missense_variant,p.Arg402Trp,ENST00000394945,;SPOCK1,missense_variant,p.Arg402Trp,ENST00000282223,;SPOCK1,downstream_gene_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000515091,;	1374	132	127	SUCCESS
PCDHA1	56147	.	GRCh37	5	140167891	140167891	+	synonymous_variant	Silent	SNP	C	C	T	rs540450492	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	47	0	ENST00000504120.2:c.2016C>T	p.Ser672=	p.S672=	ENST00000504120	NM_018900.2	672	agC/agT	0	.	T:0	.	T:0	.	T	S	protein_coding	YES	CCDS54913.1	2016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGCGGCCA	NONE	by1000G	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF92,hmmpanther:PTHR24028,SMART_domains:SM00112	T:0	.	ENSP00000420840	T:0.001	1/4	.	.	.	.	.	.	.	.	rs540450492,COSM367390,COSM367389	1/4	PASS	ENST00000504120	Transcript	.	T:0.0002	ENSG00000204970	8663	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	T:0	.	0,1,1	PCDA1_HUMAN	PCDHA1	HGNC	.	.	UPI00001273C7	SNV	PCDHA1,synonymous_variant,p.%3D,ENST00000504120,;PCDHA1,synonymous_variant,p.%3D,ENST00000378133,;PCDHA1,intron_variant,,ENST00000394633,;	2016	47	54	SUCCESS
EBF1	1879	.	GRCh37	5	158158108	158158108	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs771206001	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	24	0	ENST00000313708.6:c.1094G>C	p.Arg365Pro	p.R365P	ENST00000313708	NM_024007.3	365	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS4343.1	1094	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCCGAGGA	NONE	.	.	hmmpanther:PTHR10747	.	.	ENSP00000322898	.	11/16	.	.	.	.	.	.	.	.	rs771206001	11/16	PASS	ENST00000313708	Transcript	.	.	ENSG00000164330	3126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	COE1_HUMAN	EBF1	HGNC	.	.	UPI000000D95E	SNV	EBF1,missense_variant,p.Arg334Pro,ENST00000380654,;EBF1,missense_variant,p.Arg365Pro,ENST00000313708,;EBF1,missense_variant,p.Arg357Pro,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000523464,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;	1377	24	31	SUCCESS
NPM1	4869	.	GRCh37	5	170837534	170837534	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1220932669	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	26	0	ENST00000296930.5:c.850A>G	p.Ile284Val	p.I284V	ENST00000296930	NM_002520.6	284	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS4376.1	850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTATTCAA	BUFFER|p.W288fs*>9|c.859_860insTCTG|29,BUFFER|p.W288fs*12|c.860_861insCTGC|7,BUFFER|p.W288fs*>9|c.860_861insTCTG|4,BUFFER|p.W288fs*12|c.861_862insTGCT|3,BUFFER|p.W288fs*>9|c.861_862insTGCA|3	.	.	hmmpanther:PTHR22747,hmmpanther:PTHR22747:SF16	.	.	ENSP00000296930	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296930	Transcript	1	.	ENSG00000181163	7910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.24)	.	NPM_HUMAN	NPM1	HGNC	Q9BTI9_HUMAN,E5RI98_HUMAN	.	UPI00001303ED	SNV	NPM1,missense_variant,p.Ile255Val,ENST00000351986,;NPM1,missense_variant,p.Ile284Val,ENST00000517671,;NPM1,missense_variant,p.Ile284Val,ENST00000296930,;NPM1,downstream_gene_variant,,ENST00000393820,;NPM1,non_coding_transcript_exon_variant,,ENST00000524204,;NPM1,downstream_gene_variant,,ENST00000519955,;	1151	26	24	SUCCESS
SLC1A3	6507	.	GRCh37	5	36686198	36686198	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	83	0	ENST00000265113.4:c.1456G>A	p.Gly486Arg	p.G486R	ENST00000265113	NM_004172.4	486	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS3919.1	1456	MUTECT|MUSE	.	TACTGGGAGAC	NONE	.	.	Superfamily_domains:0053221,Pfam_domain:PF00375,Gene3D:2nwlC00,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24	.	.	ENSP00000265113	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000265113	Transcript	1	.	ENSG00000079215	10941	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EAA1_HUMAN	SLC1A3	HGNC	E7EUV6_HUMAN,E7EUS7_HUMAN	.	UPI0000129B0F	SNV	SLC1A3,missense_variant,p.Gly486Arg,ENST00000265113,;SLC1A3,missense_variant,p.Gly441Arg,ENST00000381918,;CTD-2353F22.1,intron_variant,,ENST00000510740,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000506178,;	1932	83	73	SUCCESS
NOL7	51406	.	GRCh37	6	13620548	13620548	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	5	124	0	ENST00000451315.2:c.609C>G	p.Thr203=	p.T203=	ENST00000451315	NM_016167.3	203	acC/acG	0	.	.	.	.	.	G	L/F	protein_coding	YES	.	228	MUTECT|MUSE	.	GGAACCAACAG	NONE	.	.	.	.	.	ENSP00000472493	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000600057	Transcript	.	.	ENSG00000268059	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	AL441883.1	Clone_based_ensembl_gene	M0R2E0_HUMAN	.	UPI0001AE7239	SNV	AL441883.1,missense_variant,p.Leu76Phe,ENST00000600057,;NOL7,synonymous_variant,p.%3D,ENST00000451315,;RANBP9,downstream_gene_variant,,ENST00000011619,;NOL7,downstream_gene_variant,,ENST00000420088,;RANBP9,downstream_gene_variant,,ENST00000539980,;NOL7,non_coding_transcript_exon_variant,,ENST00000474485,;RANBP9,downstream_gene_variant,,ENST00000469916,;	233	124	96	SUCCESS
IGF2R	3482	.	GRCh37	6	160454117	160454117	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	44	0	ENST00000356956.1:c.1189A>C	p.Arg397=	p.R397=	ENST00000356956	NM_000876.2	397	Aga/Cga	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS5273.1	1189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAGATAC	NONE	.	.	hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911	.	.	ENSP00000349437	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000356956	Transcript	.	.	ENSG00000197081	5467	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPRI_HUMAN	IGF2R	HGNC	A0N9R7_HUMAN,A0N9R6_HUMAN	.	UPI0000072478	SNV	IGF2R,synonymous_variant,p.%3D,ENST00000356956,;	1337	44	25	SUCCESS
DNAH8	1769	.	GRCh37	6	38795995	38795995	+	synonymous_variant	Silent	SNP	A	A	G	rs368262519	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	40	0	ENST00000359357.3:c.3468A>G	p.Glu1156=	p.E1156=	ENST00000359357		1156	gaA/gaG	0	G:0	.	.	.	.	G	E	protein_coding	YES	.	3468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGAAGTAAC	NONE	byCluster	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	G:0.0001	ENSP00000352312	.	28/91	.	.	.	.	.	.	.	.	rs368262519	28/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,synonymous_variant,p.%3D,ENST00000359357,;DNAH8,synonymous_variant,p.%3D,ENST00000327475,;DNAH8,synonymous_variant,p.%3D,ENST00000441566,;DNAH8,synonymous_variant,p.%3D,ENST00000449981,;	3722	40	52	SUCCESS
TREM1	54210	.	GRCh37	6	41250178	41250178	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs565227078	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	89	0	ENST00000244709.4:c.361G>C	p.Glu121Gln	p.E121Q	ENST00000244709	NM_018643.3	121	Gag/Cag	0	.	T:0	.	T:0	.	G	E/Q	protein_coding	YES	CCDS4854.1	361	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTCCTTGG	NONE	by1000G	.	hmmpanther:PTHR19357:SF1,hmmpanther:PTHR19357,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409	T:0	.	ENSP00000244709	T:0	2/4	.	.	.	.	.	.	.	.	rs565227078	2/4	PASS	ENST00000244709	Transcript	.	T:0.0002	ENSG00000124731	17760	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.567)	T:0.001	deleterious(0.04)	.	TREM1_HUMAN	TREM1	HGNC	Q38L15_HUMAN	.	UPI0000047FA9	SNV	TREM1,missense_variant,p.Glu121Gln,ENST00000334475,;TREM1,missense_variant,p.Glu121Gln,ENST00000244709,;TREM1,missense_variant,p.Glu121Gln,ENST00000589614,;TREM1,missense_variant,p.Glu121Gln,ENST00000591620,;TREM1,non_coding_transcript_exon_variant,,ENST00000586287,;TREM1,upstream_gene_variant,,ENST00000589695,;TREM1,upstream_gene_variant,,ENST00000589882,;	425	89	75	SUCCESS
COL9A1	1297	.	GRCh37	6	71009833	71009833	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	46	117	0	ENST00000357250.6:c.212G>A	p.Arg71Lys	p.R71K	ENST00000357250	NM_001851.4	71	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS4971.1	212	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCTAGAT	NONE	.	.	SMART_domains:SM00210,Superfamily_domains:SSF49899	.	.	ENSP00000349790	.	4/38	.	.	.	.	.	.	.	.	.	4/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Arg71Lys,ENST00000370496,;COL9A1,missense_variant,p.Arg71Lys,ENST00000357250,;	371	117	133	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	93	0	ENST00000309268.6:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000309268		432	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS4980.1	1295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACTGTCTGT	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM2151856	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.58)	.	deleterious_low_confidence(0.03)	1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ile,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2287	93	86	SUCCESS
EEF1A1	1915	.	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	93	0	ENST00000309268.6:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000309268		432	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS4980.1	1294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGTCTGTC	NONE	.	.	Superfamily_domains:SSF50465,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03143,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	7/7	.	.	.	.	.	.	.	.	COSM3162419,COSM3745352	7/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.007)	.	deleterious_low_confidence(0)	1,1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Thr432Ser,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000316292,;EEF1A1,missense_variant,p.Thr432Ser,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	2286	93	86	SUCCESS
MDN1	23195	.	GRCh37	6	90452952	90452952	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	112	0	ENST00000369393.3:c.4365G>C	p.Leu1455=	p.L1455=	ENST00000369393		1455	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS5024.1	4365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACCAGAGG	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,Pfam_domain:PF07728,Gene3D:3.40.50.300,PIRSF_domain:PIRSF010340,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000358400	.	31/102	.	.	.	.	.	.	.	.	.	31/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,synonymous_variant,p.%3D,ENST00000369393,;MDN1,synonymous_variant,p.%3D,ENST00000428876,;	4481	112	118	SUCCESS
KMT2C	58508	.	GRCh37	7	151878921	151878921	+	synonymous_variant	Silent	SNP	A	A	T	rs369706450	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	69	0	ENST00000262189.6:c.6024T>A	p.Thr2008=	p.T2008=	ENST00000262189	NM_170606.2	2008	acT/acA	0	T:0.0002	.	.	.	.	T	T	protein_coding	YES	CCDS5931.1	6024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTAGTAAA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	T:0	ENSP00000262189	.	36/59	.	.	.	.	.	.	.	.	rs369706450	36/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,synonymous_variant,p.%3D,ENST00000355193,;KMT2C,synonymous_variant,p.%3D,ENST00000262189,;KMT2C,intron_variant,,ENST00000558665,;KMT2C,upstream_gene_variant,,ENST00000360104,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	6243	69	84	SUCCESS
KMT2C	58508	.	GRCh37	7	151878922	151878922	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1280435901	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	70	0	ENST00000262189.6:c.6023C>T	p.Thr2008Ile	p.T2008I	ENST00000262189	NM_170606.2	2008	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS5931.1	6023	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAGTAAAG	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	.	.	ENSP00000262189	.	36/59	.	.	.	.	.	.	.	.	.	36/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Thr2008Ile,ENST00000355193,;KMT2C,missense_variant,p.Thr2008Ile,ENST00000262189,;KMT2C,intron_variant,,ENST00000558665,;KMT2C,upstream_gene_variant,,ENST00000360104,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	6242	70	82	SUCCESS
KMT2C	58508	.	GRCh37	7	152132948	152132948	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1477621871	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	26	0	ENST00000262189.6:c.-77G>A		p.*26*	ENST00000262189	NM_170606.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5931.1	.	MUTECT|MUSE	.	GCCGCCGCTGC	NONE	.	.	.	.	.	ENSP00000262189	.	1/59	.	.	.	.	.	.	.	.	.	1/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,5_prime_UTR_variant,,ENST00000355193,;KMT2C,5_prime_UTR_variant,,ENST00000262189,;KMT2C,upstream_gene_variant,,ENST00000452749,;AC005631.1,upstream_gene_variant,,ENST00000408527,;FABP5P3,upstream_gene_variant,,ENST00000477993,;KMT2C,5_prime_UTR_variant,,ENST00000558084,;	143	26	45	SUCCESS
OSBPL3	26031	.	GRCh37	7	24904971	24904971	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	19	111	0	ENST00000313367.2:c.663A>C	p.Lys221Asn	p.K221N	ENST00000313367	NM_015550.2	221	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS5390.1	663	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCATTTTTC	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15	.	.	ENSP00000315410	.	7/23	.	.	.	.	.	.	.	.	.	7/23	PASS	ENST00000313367	Transcript	.	.	ENSG00000070882	16370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.342)	.	deleterious(0.01)	.	OSBL3_HUMAN	OSBPL3	HGNC	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN	.	UPI0000001244	SNV	OSBPL3,missense_variant,p.Lys221Asn,ENST00000431825,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000396429,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000352860,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000409069,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000353930,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000313367,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000396431,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000409555,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000409452,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000409863,;OSBPL3,missense_variant,p.Lys221Asn,ENST00000409759,;	1115	111	99	SUCCESS
STEAP4	79689	.	GRCh37	7	87910335	87910335	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	28	88	0	ENST00000380079.4:c.1044T>C	p.Tyr348=	p.Y348=	ENST00000380079	NM_024636.3	348	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS43611.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACATATGA	NONE	.	.	hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5,Pfam_domain:PF01794	.	.	ENSP00000369419	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000380079	Transcript	.	.	ENSG00000127954	21923	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STEA4_HUMAN	STEAP4	HGNC	.	.	UPI000003C39A	SNV	STEAP4,synonymous_variant,p.%3D,ENST00000301959,;STEAP4,synonymous_variant,p.%3D,ENST00000380079,;STEAP4,downstream_gene_variant,,ENST00000414498,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000434733,;AC003991.3,intron_variant,,ENST00000600908,;AC003991.3,downstream_gene_variant,,ENST00000594469,;	1146	88	104	SUCCESS
LRRC6	0	.	GRCh37	8	133634904	133634904	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	56	148	0	ENST00000250173.1:c.867G>A	p.Arg289=	p.R289=	ENST00000250173		289	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS6365.1	867	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTCCTGGG	NONE	.	.	hmmpanther:PTHR10588:SF114,hmmpanther:PTHR10588	.	.	ENSP00000250173	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000250173	Transcript	1	.	ENSG00000129295	16725	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TILB_HUMAN	LRRC6	HGNC	.	.	UPI000000DBC5	SNV	LRRC6,synonymous_variant,p.%3D,ENST00000519595,;LRRC6,synonymous_variant,p.%3D,ENST00000519085,;LRRC6,synonymous_variant,p.%3D,ENST00000518642,;LRRC6,synonymous_variant,p.%3D,ENST00000250173,;LRRC6,synonymous_variant,p.%3D,ENST00000522789,;LRRC6,downstream_gene_variant,,ENST00000523503,;LRRC6,downstream_gene_variant,,ENST00000520446,;LRRC6,non_coding_transcript_exon_variant,,ENST00000522597,;	941	148	218	SUCCESS
PTK2	5747	.	GRCh37	8	141756887	141756887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	56	0	ENST00000521059.1:c.1490T>C	p.Ile497Thr	p.I497T	ENST00000521059	NM_005607.4	497	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS56557.1	1490	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTATCCAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000341189	.	18/33	.	.	.	.	.	.	.	.	.	18/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,missense_variant,p.Ile165Thr,ENST00000538769,;PTK2,missense_variant,p.Ile125Thr,ENST00000519465,;PTK2,missense_variant,p.Ile508Thr,ENST00000519654,;PTK2,missense_variant,p.Ile497Thr,ENST00000340930,;PTK2,missense_variant,p.Ile497Thr,ENST00000535192,;PTK2,missense_variant,p.Ile195Thr,ENST00000521986,;PTK2,missense_variant,p.Ile169Thr,ENST00000523539,;PTK2,missense_variant,p.Ile497Thr,ENST00000522684,;PTK2,missense_variant,p.Ile497Thr,ENST00000521059,;PTK2,missense_variant,p.Ile132Thr,ENST00000519024,;PTK2,missense_variant,p.Ile541Thr,ENST00000519419,;PTK2,missense_variant,p.Ile497Thr,ENST00000395218,;PTK2,missense_variant,p.Ile541Thr,ENST00000517887,;PTK2,intron_variant,,ENST00000520151,;PTK2,non_coding_transcript_exon_variant,,ENST00000523474,;PTK2,non_coding_transcript_exon_variant,,ENST00000523746,;PTK2,upstream_gene_variant,,ENST00000518509,;PTK2,downstream_gene_variant,,ENST00000519361,;PTK2,downstream_gene_variant,,ENST00000520843,;PTK2,3_prime_UTR_variant,,ENST00000523670,;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000519993,;PTK2,non_coding_transcript_exon_variant,,ENST00000510126,;PTK2,non_coding_transcript_exon_variant,,ENST00000519899,;PTK2,intron_variant,,ENST00000521981,;PTK2,intron_variant,,ENST00000521029,;PTK2,intron_variant,,ENST00000521250,;PTK2,upstream_gene_variant,,ENST00000520917,;	1645	56	74	SUCCESS
ZBTB10	65986	.	GRCh37	8	81412438	81412438	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	52	103	0	ENST00000430430.1:c.1682A>G	p.Asn561Ser	p.N561S	ENST00000430430		561	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS47880.1	1682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAATAATA	NONE	.	.	hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27	.	.	ENSP00000387462	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000430430	Transcript	.	.	ENSG00000205189	30953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	tolerated(0.09)	.	ZBT10_HUMAN	ZBTB10	HGNC	.	.	UPI0000E5AEF3	SNV	ZBTB10,missense_variant,p.Asn561Ser,ENST00000430430,;ZBTB10,missense_variant,p.Asn561Ser,ENST00000426744,;ZBTB10,missense_variant,p.Asn561Ser,ENST00000455036,;ZBTB10,missense_variant,p.Asn269Ser,ENST00000379091,;	2461	103	115	SUCCESS
NCBP1	4686	.	GRCh37	9	100425320	100425320	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs200307901	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	80	0	ENST00000375147.3:c.1788C>G	p.Asn596Lys	p.N596K	ENST00000375147	NM_002486.4	596	aaC/aaG	0	.	A:0	.	A:0	.	G	N/K	protein_coding	YES	CCDS6728.1	1788	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACCATCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12412,Gene3D:1.25.40.180,Pfam_domain:PF09090,Superfamily_domains:SSF48371	A:0.001	.	ENSP00000364289	A:0	18/23	.	.	.	.	.	.	.	.	rs200307901	18/23	PASS	ENST00000375147	Transcript	.	A:0.0002	ENSG00000136937	7658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.643)	A:0	tolerated(0.22)	.	NCBP1_HUMAN	NCBP1	HGNC	.	.	UPI0000112754	SNV	NCBP1,missense_variant,p.Asn596Lys,ENST00000375147,;NCBP1,upstream_gene_variant,,ENST00000375130,;	2044	80	57	SUCCESS
LAMC3	10319	.	GRCh37	9	133914252	133914252	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	21	0	ENST00000361069.4:c.978C>T		p.X326_splice	ENST00000361069	NM_006059.3	326	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6938.1	978	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCCTGCAA	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,PROSITE_profiles:PS50027	.	.	ENSP00000354360	.	5/28	.	.	.	.	.	.	.	.	.	5/28	PASS	ENST00000361069	Transcript	.	.	ENSG00000050555	6494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMC3_HUMAN	LAMC3	HGNC	Q5JTC4_HUMAN	.	UPI000013D6D3	SNV	LAMC3,synonymous_variant,p.%3D,ENST00000361069,;LAMC3,splice_region_variant,,ENST00000480883,;	1111	21	23	SUCCESS
OLFM1	10439	.	GRCh37	9	138011380	138011380	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747137531	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	65	0	ENST00000371793.3:c.814C>T	p.Arg272Cys	p.R272C	ENST00000371793	NM_001282611.1	272	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS6986.1	760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACCGCTTC	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF34,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000252854	.	6/6	.	.	.	.	.	.	.	.	rs747137531	6/6	PASS	ENST00000252854	Transcript	.	.	ENSG00000130558	17187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	NOE1_HUMAN	OLFM1	HGNC	Q6IMJ8_HUMAN,Q96BL8_HUMAN,F5H810_HUMAN,F5GZQ2_HUMAN,B3KR22_HUMAN	.	UPI000013CD8C	SNV	OLFM1,missense_variant,p.Arg245Cys,ENST00000371796,;OLFM1,missense_variant,p.Arg272Cys,ENST00000371793,;OLFM1,missense_variant,p.Pro96Leu,ENST00000545657,;OLFM1,missense_variant,p.Arg169Cys,ENST00000539877,;OLFM1,missense_variant,p.Arg254Cys,ENST00000252854,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;	947	65	38	SUCCESS
UBAC1	10422	.	GRCh37	9	138837090	138837090	+	synonymous_variant	Silent	SNP	C	C	A	rs765866029	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	28	0	ENST00000371756.3:c.660G>T	p.Ser220=	p.S220=	ENST00000371756	NM_016172.2	220	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35177.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCGACAT	NONE	.	.	Superfamily_domains:SSF46934,SMART_domains:SM00165,Pfam_domain:PF00627,Gene3D:1.10.8.10,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF31,PROSITE_profiles:PS50030	.	.	ENSP00000360821	.	7/10	.	.	.	.	.	.	.	.	rs765866029,COSM3703515	7/10	PASS	ENST00000371756	Transcript	.	.	ENSG00000130560	30221	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	UBAC1_HUMAN	UBAC1	HGNC	.	.	UPI0000070A05	SNV	UBAC1,synonymous_variant,p.%3D,ENST00000371756,;UBAC1,non_coding_transcript_exon_variant,,ENST00000471163,;UBAC1,non_coding_transcript_exon_variant,,ENST00000465873,;UBAC1,downstream_gene_variant,,ENST00000486258,;UBAC1,downstream_gene_variant,,ENST00000478485,;UBAC1,upstream_gene_variant,,ENST00000489050,;	878	28	35	SUCCESS
MELK	9833	.	GRCh37	9	36630339	36630339	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	53	0	ENST00000298048.2:c.710T>G	p.Ile237Ser	p.I237S	ENST00000298048	NM_014791.3	237	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS6606.1	710	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCATTCTGC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343,PROSITE_profiles:PS50011	.	.	ENSP00000298048	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000298048	Transcript	.	.	ENSG00000165304	16870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.16)	.	MELK_HUMAN	MELK	HGNC	A7BG63_HUMAN	.	UPI000004776B	SNV	MELK,missense_variant,p.Ile189Ser,ENST00000536860,;MELK,missense_variant,p.Ile106Ser,ENST00000536987,;MELK,missense_variant,p.Ile237Ser,ENST00000541717,;MELK,missense_variant,p.Ile166Ser,ENST00000545008,;MELK,missense_variant,p.Ile205Ser,ENST00000543751,;MELK,missense_variant,p.Ile237Ser,ENST00000298048,;MELK,missense_variant,p.Ile43Ser,ENST00000538311,;MELK,missense_variant,p.Ile166Ser,ENST00000536329,;MELK,non_coding_transcript_exon_variant,,ENST00000495529,;MELK,non_coding_transcript_exon_variant,,ENST00000487398,;MELK,non_coding_transcript_exon_variant,,ENST00000480021,;	894	53	55	SUCCESS
DOCK8	81704	.	GRCh37	9	368247	368247	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	76	0	ENST00000432829.2:c.1593+112A>G		p.*531*	ENST00000432829	NM_203447.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6440.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATACTGCT	NONE	.	.	.	.	.	ENSP00000408464	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000453981	Transcript	.	.	ENSG00000107099	19191	.	.	MODIFIER	15/47	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK8_HUMAN	DOCK8	HGNC	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN	.	UPI0000E0B9E5	SNV	DOCK8,missense_variant,p.Thr49Ala,ENST00000382329,;DOCK8,intron_variant,,ENST00000432829,;DOCK8,intron_variant,,ENST00000453981,;DOCK8,intron_variant,,ENST00000382331,;DOCK8,intron_variant,,ENST00000469391,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;DOCK8,intron_variant,,ENST00000483757,;	.	76	50	SUCCESS
SYK	6850	.	GRCh37	9	93650155	93650155	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778118969	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	7	107	0	ENST00000375746.1:c.1706G>T	p.Gly569Val	p.G569V	ENST00000375746	NM_001174167.1	569	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS6688.1	1706	MUTECT|MUSE	.	CTATGGGCAGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF79,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000604,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000364907	.	12/14	.	.	.	.	.	.	.	.	rs778118969,COSM753905,COSM1151379	12/14	PASS	ENST00000375754	Transcript	.	.	ENSG00000165025	11491	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	KSYK_HUMAN	SYK	HGNC	.	.	UPI000012E0DD	SNV	SYK,missense_variant,p.Gly569Val,ENST00000375754,;SYK,missense_variant,p.Gly546Val,ENST00000375747,;SYK,missense_variant,p.Gly546Val,ENST00000375751,;SYK,missense_variant,p.Gly569Val,ENST00000375746,;	1854	107	97	SUCCESS
AFF2	2334	.	GRCh37	X	148037267	148037267	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	35	54	0	ENST00000370460.2:c.1692A>T	p.Gln564His	p.Q564H	ENST00000370460	NM_002025.3	564	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS14684.1	1692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAACCAAT	NONE	.	.	hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	.	.	ENSP00000359489	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000370460	Transcript	.	.	ENSG00000155966	3776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	deleterious(0.01)	.	AFF2_HUMAN	AFF2	HGNC	.	.	UPI000049E130	SNV	AFF2,missense_variant,p.Gln564His,ENST00000370460,;AFF2,missense_variant,p.Gln531His,ENST00000342251,;AFF2,missense_variant,p.Gln205His,ENST00000286437,;AFF2,missense_variant,p.Gln531His,ENST00000370457,;	2171	54	68	SUCCESS
PASD1	139135	.	GRCh37	X	150842573	150842573	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	28	63	0	ENST00000370357.4:c.2090C>G	p.Ser697Cys	p.S697C	ENST00000370357	NM_173493.2	697	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS35431.1	2090	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTCTGATT	NONE	.	.	.	.	.	ENSP00000359382	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000370357	Transcript	.	.	ENSG00000166049	20686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	deleterious(0.04)	.	PASD1_HUMAN	PASD1	HGNC	.	.	UPI0000074686	SNV	PASD1,missense_variant,p.Ser697Cys,ENST00000370357,;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,downstream_gene_variant,,ENST00000413236,;	2335	63	43	SUCCESS
ACOT9	23597	.	GRCh37	X	23731290	23731290	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	119	134	0	ENST00000336430.7:c.597A>G	p.Ala199=	p.A199=	ENST00000336430	NM_001033583.2	199	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS43924.1	624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGTTGCATC	NONE	.	.	hmmpanther:PTHR12655,hmmpanther:PTHR12655:SF0,Gene3D:3.10.129.10,Superfamily_domains:SSF54637	.	.	ENSP00000368605	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000379303	Transcript	.	.	ENSG00000123130	17152	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOT9_HUMAN	ACOT9	HGNC	Q9H2R8_HUMAN	.	UPI00003D7D31	SNV	ACOT9,synonymous_variant,p.%3D,ENST00000379303,;ACOT9,synonymous_variant,p.%3D,ENST00000473710,;ACOT9,synonymous_variant,p.%3D,ENST00000379295,;ACOT9,synonymous_variant,p.%3D,ENST00000336430,;ACOT9,intron_variant,,ENST00000492081,;ACOT9,3_prime_UTR_variant,,ENST00000494361,;ACOT9,non_coding_transcript_exon_variant,,ENST00000449612,;	753	134	173	SUCCESS
NR0B1	190	.	GRCh37	X	30326784	30326784	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761762294	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	24	0	ENST00000378970.4:c.697G>T	p.Ala233Ser	p.A233S	ENST00000378970	NM_000475.4	233	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS14223.1	697	MUTECT|MUSE	.	GGGGGCCCTCG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48508,Gene3D:1.10.565.10,Pfam_domain:PF14046,hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF1	.	.	ENSP00000368253	.	1/2	.	.	.	.	.	.	.	.	rs761762294	1/2	PASS	ENST00000378970	Transcript	.	.	ENSG00000169297	7960	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.582)	.	tolerated(0.1)	.	NR0B1_HUMAN	NR0B1	HGNC	F1D8P4_HUMAN	.	UPI0000128ED4	SNV	NR0B1,missense_variant,p.Ala233Ser,ENST00000453287,;NR0B1,missense_variant,p.Ala233Ser,ENST00000378970,;NR0B1,upstream_gene_variant,,ENST00000378963,;	932	24	30	SUCCESS
AMER1	139285	.	GRCh37	X	63410478	63410478	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749609920	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	41	60	0	ENST00000330258.3:c.2689G>A	p.Asp897Asn	p.D897N	ENST00000330258	NM_152424.3	897	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS14377.2	2689	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCGAGAG	NONE	byFrequency	.	hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	rs749609920	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.712)	.	deleterious(0)	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,missense_variant,p.Asp897Asn,ENST00000330258,;AMER1,intron_variant,,ENST00000374869,;AMER1,intron_variant,,ENST00000403336,;	2962	60	68	SUCCESS
FBXL15	79176	.	GRCh37	10	104180046	104180046	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs546482629	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	51	0	ENST00000224862.3:c.-841C>A		p.*281*	ENST00000224862	NM_024326.3			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS31273.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCTGGGG	NONE	by1000G	.	.	A:0.001	.	ENSP00000224862	A:0	1/4	.	.	.	.	.	.	.	.	rs546482629	1/4	PASS	ENST00000224862	Transcript	.	A:0.0002	ENSG00000107872	28155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FXL15_HUMAN	FBXL15	HGNC	.	.	UPI00001F9620	SNV	FBXL15,missense_variant,p.Pro58His,ENST00000457067,;FBXL15,5_prime_UTR_variant,,ENST00000224862,;FBXL15,5_prime_UTR_variant,,ENST00000369956,;FBXL15,intron_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000440407,;FBXL15,upstream_gene_variant,,ENST00000425536,;PSD,upstream_gene_variant,,ENST00000020673,;PSD,upstream_gene_variant,,ENST00000406432,;CUEDC2,downstream_gene_variant,,ENST00000369937,;PSD,splice_acceptor_variant,,ENST00000492902,;FBXL15,non_coding_transcript_exon_variant,,ENST00000481808,;PSD,upstream_gene_variant,,ENST00000472685,;CUEDC2,downstream_gene_variant,,ENST00000486762,;CUEDC2,downstream_gene_variant,,ENST00000465409,;CUEDC2,downstream_gene_variant,,ENST00000477994,;	476	51	18	SUCCESS
PNLIPRP3	119548	.	GRCh37	10	118202641	118202641	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	14	86	0	ENST00000369230.3:c.279A>T	p.Ile93=	p.I93=	ENST00000369230	NM_001011709.2	93	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31292.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATAGCTGG	NONE	.	.	Prints_domain:PR00821,Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,Gene3D:3.40.50.1820,hmmpanther:PTHR11610:SF96,hmmpanther:PTHR11610	.	.	ENSP00000358232	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000369230	Transcript	.	.	ENSG00000203837	23492	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIPR3_HUMAN	PNLIPRP3	HGNC	.	.	UPI000013DB40	SNV	PNLIPRP3,synonymous_variant,p.%3D,ENST00000369230,;HMGB3P8,upstream_gene_variant,,ENST00000449709,;	425	86	82	SUCCESS
FBXO18	0	.	GRCh37	10	5945116	5945116	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	71	0	ENST00000379999.5:c.288G>C	p.Pro96=	p.P96=	ENST00000379999	NM_032807.4	96	ccG/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7073.1	288	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCGAGAAC	NONE	.	.	.	.	.	ENSP00000369335	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,synonymous_variant,p.%3D,ENST00000362091,;FBXO18,synonymous_variant,p.%3D,ENST00000379999,;FBXO18,5_prime_UTR_variant,,ENST00000397269,;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,intron_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000469009,;FBXO18,upstream_gene_variant,,ENST00000494526,;	392	71	111	SUCCESS
COL13A1	1305	.	GRCh37	10	71692351	71692351	+	synonymous_variant	Silent	SNP	A	A	T	rs774539729	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	80	0	ENST00000398978.3:c.1686A>T	p.Pro562=	p.P562=	ENST00000398978	NM_001130103.1	562	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS44419.1	1686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCAGGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000381949	.	30/40	.	.	.	.	.	.	.	.	rs774539729	30/40	PASS	ENST00000398978	Transcript	.	.	ENSG00000197467	2190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CODA1_HUMAN	COL13A1	HGNC	Q9UP45_HUMAN	.	UPI000046FD72	SNV	COL13A1,synonymous_variant,p.%3D,ENST00000354547,;COL13A1,synonymous_variant,p.%3D,ENST00000398978,;COL13A1,synonymous_variant,p.%3D,ENST00000398964,;COL13A1,synonymous_variant,p.%3D,ENST00000398966,;COL13A1,synonymous_variant,p.%3D,ENST00000398973,;COL13A1,synonymous_variant,p.%3D,ENST00000522165,;COL13A1,synonymous_variant,p.%3D,ENST00000398968,;COL13A1,synonymous_variant,p.%3D,ENST00000398974,;COL13A1,synonymous_variant,p.%3D,ENST00000356340,;COL13A1,synonymous_variant,p.%3D,ENST00000398972,;COL13A1,synonymous_variant,p.%3D,ENST00000357811,;COL13A1,intron_variant,,ENST00000517713,;COL13A1,intron_variant,,ENST00000398975,;COL13A1,intron_variant,,ENST00000398971,;COL13A1,intron_variant,,ENST00000398969,;COL13A1,intron_variant,,ENST00000456019,;COL13A1,intron_variant,,ENST00000520133,;COL13A1,intron_variant,,ENST00000520267,;COL13A1,3_prime_UTR_variant,,ENST00000479733,;	2178	80	81	SUCCESS
ART5	116969	.	GRCh37	11	3661593	3661593	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	30	0	ENST00000359918.4:c.66T>A	p.Ala22=	p.A22=	ENST00000359918	NM_001079536.1	22	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS7743.1	66	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGAACAGCCTG	BUFFER|p.P24_I25insT|c.73_74insCCA|11	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10339,hmmpanther:PTHR10339:SF2	.	.	ENSP00000380258	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000397068	Transcript	.	.	ENSG00000167311	24049	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAR5_HUMAN	ART5	HGNC	.	.	UPI000013E694	SNV	ART5,synonymous_variant,p.%3D,ENST00000425767,;ART5,synonymous_variant,p.%3D,ENST00000397068,;ART5,synonymous_variant,p.%3D,ENST00000397067,;ART5,synonymous_variant,p.%3D,ENST00000359918,;ART5,upstream_gene_variant,,ENST00000453353,;ART1,upstream_gene_variant,,ENST00000250693,;TRPC2,downstream_gene_variant,,ENST00000526541,;ART1,upstream_gene_variant,,ENST00000529556,;TRPC2,downstream_gene_variant,,ENST00000451043,;	459	30	50	SUCCESS
VWCE	220001	.	GRCh37	11	61026465	61026465	+	synonymous_variant	Silent	SNP	G	G	C	rs761334450	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	47	0	ENST00000335613.5:c.2550C>G	p.Thr850=	p.T850=	ENST00000335613	NM_152718.2	850	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS8002.1	2550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGGTCGA	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF250	.	.	ENSP00000334186	.	20/20	.	.	.	.	.	.	.	.	rs761334450	20/20	PASS	ENST00000335613	Transcript	.	.	ENSG00000167992	26487	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWCE_HUMAN	VWCE	HGNC	B4DY31_HUMAN	.	UPI000013E751	SNV	VWCE,synonymous_variant,p.%3D,ENST00000335613,;VWCE,synonymous_variant,p.%3D,ENST00000535710,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,downstream_gene_variant,,ENST00000538438,;	2937	47	45	SUCCESS
RPS3	6188	.	GRCh37	11	75115172	75115172	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	18	91	0	ENST00000524851.1:c.459G>A	p.Val153=	p.V153=	ENST00000524851		153	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS58161.1	507	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTGGATGG	NONE	.	.	Superfamily_domains:SSF54821,Gene3D:2vqeC02,Pfam_domain:PF00189,PROSITE_patterns:PS00548,hmmpanther:PTHR11760,hmmpanther:PTHR11760:SF17	.	.	ENSP00000278572	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000278572	Transcript	.	.	ENSG00000149273	10420	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RS3_HUMAN	RPS3	HGNC	Q9NQS8_HUMAN,E9PSF4_HUMAN,E9PJN9_HUMAN	.	UPI0001EE4B77	SNV	RPS3,synonymous_variant,p.%3D,ENST00000422465,;RPS3,synonymous_variant,p.%3D,ENST00000278572,;RPS3,synonymous_variant,p.%3D,ENST00000531188,;RPS3,synonymous_variant,p.%3D,ENST00000526608,;RPS3,synonymous_variant,p.%3D,ENST00000525933,;RPS3,synonymous_variant,p.%3D,ENST00000524851,;RPS3,synonymous_variant,p.%3D,ENST00000528847,;RPS3,synonymous_variant,p.%3D,ENST00000527446,;RPS3,intron_variant,,ENST00000534440,;RPS3,downstream_gene_variant,,ENST00000530164,;RPS3,downstream_gene_variant,,ENST00000527273,;SNORD15B,upstream_gene_variant,,ENST00000384714,;SNORD15A,downstream_gene_variant,,ENST00000384214,;RPS3,intron_variant,,ENST00000529285,;RPS3,downstream_gene_variant,,ENST00000534555,;RPS3,3_prime_UTR_variant,,ENST00000532872,;RPS3,3_prime_UTR_variant,,ENST00000530721,;RPS3,3_prime_UTR_variant,,ENST00000526248,;RPS3,non_coding_transcript_exon_variant,,ENST00000529173,;RPS3,intron_variant,,ENST00000525690,;RPS3,intron_variant,,ENST00000528439,;RPS3,intron_variant,,ENST00000530170,;	525	91	167	SUCCESS
PDE3A	5139	.	GRCh37	12	20792858	20792858	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	58	0	ENST00000359062.3:c.2218C>A	p.His740Asn	p.H740N	ENST00000359062	NM_001244683.1	740	Cat/Aat	0	.	.	.	.	.	A	H/N	protein_coding	YES	CCDS31754.1	2218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCATGCT	NONE	.	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	.	.	ENSP00000351957	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious(0.03)	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.His740Asn,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	2258	58	86	SUCCESS
SLC38A1	81539	.	GRCh37	12	46633498	46633498	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs375543520	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	19	88	0	ENST00000398637.5:c.86A>G	p.Asn29Ser	p.N29S	ENST00000398637	NM_030674.3	29	aAt/aGt	0	C:0.0003	.	.	.	.	C	N/S	protein_coding	YES	CCDS41774.1	86	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCATTGGAG	BUFFER|p.E33K|c.97G>A|3	byFrequency|byCluster	.	hmmpanther:PTHR22950:SF184,hmmpanther:PTHR22950	.	C:0	ENSP00000381634	.	3/17	.	.	.	.	.	.	.	.	rs375543520	3/17	PASS	ENST00000398637	Transcript	.	.	ENSG00000111371	13447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	tolerated(0.16)	.	S38A1_HUMAN	SLC38A1	HGNC	Q8NCD8_HUMAN,F8VX12_HUMAN	.	UPI000004D33C	SNV	SLC38A1,missense_variant,p.Asn29Ser,ENST00000549049,;SLC38A1,missense_variant,p.Asn29Ser,ENST00000398637,;SLC38A1,missense_variant,p.Asn29Ser,ENST00000546893,;SLC38A1,missense_variant,p.Asn29Ser,ENST00000552197,;SLC38A1,missense_variant,p.Asn29Ser,ENST00000550173,;SLC38A1,missense_variant,p.Asn29Ser,ENST00000439706,;SLC38A1,intron_variant,,ENST00000551506,;SLC38A1,intron_variant,,ENST00000549633,;	781	88	103	SUCCESS
MAP3K12	7786	.	GRCh37	12	53879187	53879187	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	36	70	0	ENST00000267079.2:c.795C>A	p.Ser265Arg	p.S265R	ENST00000267079	NM_006301.3	265	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS55831.1	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTGCTCTT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF397,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF500741,SMART_domains:SM00220,PIRSF_domain:PIRSF038165,Superfamily_domains:SSF56112	.	.	ENSP00000448689	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000547035	Transcript	.	.	ENSG00000139625	6851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	M3K12_HUMAN	MAP3K12	HGNC	H3BMF0_HUMAN	.	UPI00001407EE	SNV	MAP3K12,missense_variant,p.Ser298Arg,ENST00000547035,;MAP3K12,missense_variant,p.Ser265Arg,ENST00000267079,;MAP3K12,missense_variant,p.Ser298Arg,ENST00000547488,;PCBP2,downstream_gene_variant,,ENST00000455667,;PCBP2,downstream_gene_variant,,ENST00000547859,;PCBP2,downstream_gene_variant,,ENST00000437231,;PCBP2,downstream_gene_variant,,ENST00000447282,;MAP3K12,downstream_gene_variant,,ENST00000548565,;PCBP2,downstream_gene_variant,,ENST00000603815,;MAP3K12,downstream_gene_variant,,ENST00000547151,;MAP3K12,missense_variant,p.Ser265Arg,ENST00000552365,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547020,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000548690,;MAP3K12,upstream_gene_variant,,ENST00000551511,;MAP3K12,downstream_gene_variant,,ENST00000551895,;MAP3K12,downstream_gene_variant,,ENST00000547803,;	1099	70	90	SUCCESS
MFAP5	8076	.	GRCh37	12	8807070	8807070	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	61	155	0	ENST00000359478.2:c.180T>A	p.Ala60=	p.A60=	ENST00000359478	NM_003480.2	60	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8595.1	180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACAGCCAA	NONE	.	.	Pfam_domain:PF05507,hmmpanther:PTHR16485:SF5,hmmpanther:PTHR16485	.	.	ENSP00000352455	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000359478	Transcript	.	.	ENSG00000197614	29673	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFAP5_HUMAN	MFAP5	HGNC	H0YGS3_HUMAN,F5H1C0_HUMAN	.	UPI000012F034	SNV	MFAP5,synonymous_variant,p.%3D,ENST00000359478,;MFAP5,synonymous_variant,p.%3D,ENST00000543369,;MFAP5,synonymous_variant,p.%3D,ENST00000540087,;MFAP5,synonymous_variant,p.%3D,ENST00000535411,;MFAP5,synonymous_variant,p.%3D,ENST00000544889,;MFAP5,synonymous_variant,p.%3D,ENST00000396549,;MFAP5,synonymous_variant,p.%3D,ENST00000535336,;MFAP5,intron_variant,,ENST00000433590,;MFAP5,upstream_gene_variant,,ENST00000543467,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538694,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538107,;MFAP5,synonymous_variant,p.%3D,ENST00000537009,;MFAP5,synonymous_variant,p.%3D,ENST00000544211,;MFAP5,non_coding_transcript_exon_variant,,ENST00000537128,;MFAP5,non_coding_transcript_exon_variant,,ENST00000534833,;	368	155	187	SUCCESS
IGHA1	3493	.	GRCh37	14	106174251	106174251	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	17	130	0	ENST00000390547.2:c.538T>G	p.Cys180Gly	p.C180G	ENST00000390547		180	Tgt/Ggt	0	.	.	.	.	.	C	C/G	IG_C_gene	YES	.	538	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGAGGT	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR23266:SF68,hmmpanther:PTHR23266,PROSITE_profiles:PS50835	.	.	ENSP00000374989	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000390547	Transcript	.	.	ENSG00000211895	5478	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.788)	.	tolerated(0.47)	.	IGHA1_HUMAN	IGHA1	HGNC	Q9UP60_HUMAN,Q96K68_HUMAN,Q8NCL6_HUMAN,Q6MZW0_HUMAN	.	UPI000004718D	SNV	IGHA1,missense_variant,p.Cys180Gly,ENST00000390547,;AL928768.3,upstream_gene_variant,,ENST00000497872,;AL901608.1,downstream_gene_variant,,ENST00000581070,;	538	130	122	SUCCESS
G2E3	55632	.	GRCh37	14	31077159	31077159	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767991087	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	18	81	0	ENST00000206595.6:c.1384C>T	p.Pro462Ser	p.P462S	ENST00000206595	NM_017769.3	462	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9638.1	1384	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTCCTTCA	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF13	.	.	ENSP00000206595	.	12/15	.	.	.	.	.	.	.	.	rs767991087	12/15	PASS	ENST00000206595	Transcript	.	.	ENSG00000092140	20338	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.886)	.	tolerated(0.06)	.	G2E3_HUMAN	G2E3	HGNC	G3V5B6_HUMAN,G3V3B6_HUMAN,F8W0F5_HUMAN,F8VY49_HUMAN,F5GX24_HUMAN	.	UPI000013F3A8	SNV	G2E3,missense_variant,p.Pro492Ser,ENST00000553504,;G2E3,missense_variant,p.Pro462Ser,ENST00000206595,;G2E3,missense_variant,p.Pro416Ser,ENST00000438909,;G2E3,downstream_gene_variant,,ENST00000552515,;G2E3,non_coding_transcript_exon_variant,,ENST00000547638,;G2E3,downstream_gene_variant,,ENST00000544007,;G2E3,intron_variant,,ENST00000548934,;G2E3,upstream_gene_variant,,ENST00000549159,;G2E3,downstream_gene_variant,,ENST00000547209,;	1538	81	164	SUCCESS
CDKL1	8814	.	GRCh37	14	50809746	50809746	+	intron_variant	Intron	SNP	G	G	A	rs754648025	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	18	114	0	ENST00000395834.1:c.367-806C>T		p.*123*	ENST00000395834	NM_004196.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9699.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGCCCAC	NONE	byFrequency	.	.	.	.	ENSP00000379176	.	.	.	.	.	.	.	.	.	.	rs754648025	.	PASS	ENST00000395834	Transcript	.	.	ENSG00000100490	1781	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDKL1_HUMAN	CDKL1	HGNC	.	.	UPI000013C6E9	SNV	CDKL1,intron_variant,,ENST00000395834,;CDKL1,intron_variant,,ENST00000216378,;CDKL1,upstream_gene_variant,,ENST00000525911,;CDKL1,upstream_gene_variant,,ENST00000534267,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,intron_variant,,ENST00000528197,;CDKL1,upstream_gene_variant,,ENST00000542671,;CDKL1,upstream_gene_variant,,ENST00000529347,;	.	115	128	SUCCESS
UNC79	57578	.	GRCh37	14	94088446	94088446	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs375712940	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	23	83	0	ENST00000393151.2:c.4867A>G	p.Ile1623Val	p.I1623V	ENST00000393151		1623	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9911.2	4336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTATACTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	30/50	.	.	.	.	.	.	.	.	rs375712940	30/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.77)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Ile1623Val,ENST00000393151,;UNC79,missense_variant,p.Ile1446Val,ENST00000256339,;UNC79,missense_variant,p.Ile1645Val,ENST00000553484,;UNC79,missense_variant,p.Ile1623Val,ENST00000555664,;	4991	83	98	SUCCESS
DICER1	23405	.	GRCh37	14	95557445	95557445	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	rs768311617	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	24	100	0	ENST00000343455.3:c.5529A>T	p.Glu1843Asp	p.E1843D	ENST00000343455	NM_177438.2	1843	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS9931.1	5529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTTTCTGC	NONE	.	.	hmmpanther:PTHR14950:SF3,hmmpanther:PTHR14950,Gene3D:1.10.1520.10,SMART_domains:SM00535,Superfamily_domains:SSF69065,Superfamily_domains:SSF54768	.	.	ENSP00000437256	.	28/29	.	.	.	.	.	.	.	.	rs768311617	28/29	PASS	ENST00000526495	Transcript	1	.	ENSG00000100697	17098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.21)	.	DICER_HUMAN	DICER1	HGNC	Q5D0K5_HUMAN,B3KMJ0_HUMAN	.	UPI0000168662	SNV	DICER1,missense_variant,p.Glu1843Asp,ENST00000343455,;DICER1,missense_variant,p.Lys1789Ile,ENST00000541352,;DICER1,missense_variant,p.Glu1843Asp,ENST00000527414,;DICER1,missense_variant,p.Glu1843Asp,ENST00000526495,;DICER1,missense_variant,p.Glu741Asp,ENST00000556045,;DICER1,missense_variant,p.Glu1843Asp,ENST00000393063,;DICER1,downstream_gene_variant,,ENST00000532939,;DICER1,splice_region_variant,,ENST00000527416,;DICER1,splice_region_variant,,ENST00000527554,;	5821	100	119	SUCCESS
BCL11B	64919	.	GRCh37	14	99641808	99641808	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	39	0	ENST00000357195.3:c.1365C>G	p.Tyr455Ter	p.Y455*	ENST00000357195	NM_138576.2	455	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS9950.1	1365	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTGTAGGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,stop_gained,p.Tyr261Ter,ENST00000443726,;BCL11B,stop_gained,p.Tyr384Ter,ENST00000345514,;BCL11B,stop_gained,p.Tyr455Ter,ENST00000357195,;	1375	39	38	SUCCESS
AQR	9716	.	GRCh37	15	35149307	35149307	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	41	0	ENST00000156471.5:c.4144A>T	p.Thr1382Ser	p.T1382S	ENST00000156471	NM_014691.2	1382	Act/Tct	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS42013.1	4144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTCTAAT	NONE	.	.	PIRSF_domain:PIRSF038901,Superfamily_domains:SSF52540	.	.	ENSP00000156471	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.72)	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,missense_variant,p.Thr1382Ser,ENST00000156471,;AQR,splice_region_variant,,ENST00000543879,;AQR,splice_region_variant,,ENST00000559767,;AQR,splice_region_variant,,ENST00000559090,;	4370	41	33	SUCCESS
SKOR1	390598	.	GRCh37	15	68126112	68126112	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	47	0	ENST00000380035.2:c.2836A>C	p.Lys946Gln	p.K946Q	ENST00000380035		946	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS58374.1	2545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAAGATG	NONE	.	.	hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF8	.	.	ENSP00000343200	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000341418	Transcript	.	.	ENSG00000188779	21326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.607)	.	deleterious_low_confidence(0)	.	SKOR1_HUMAN	SKOR1	HGNC	.	.	UPI00001987EE	SNV	SKOR1,missense_variant,p.Lys907Gln,ENST00000554240,;SKOR1,missense_variant,p.Lys918Gln,ENST00000554054,;SKOR1,missense_variant,p.Lys946Gln,ENST00000380035,;SKOR1,missense_variant,p.Lys849Gln,ENST00000341418,;SKOR1,missense_variant,p.Lys902Gln,ENST00000389002,;RP11-34F13.3,intron_variant,,ENST00000558889,;RP11-34F13.2,downstream_gene_variant,,ENST00000502156,;RP11-34F13.3,intron_variant,,ENST00000560577,;	2545	47	56	SUCCESS
FAM169B	283777	.	GRCh37	15	99023922	99023922	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	23	110	0	ENST00000558256.1:c.91G>A	p.Asp31Asn	p.D31N	ENST00000558256	NM_182562.2	31	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS45360.1	91	RADIA|MUTECT|MUSE	.	CATGTCATCAT	NONE	.	.	hmmpanther:PTHR22442:SF4,hmmpanther:PTHR22442	.	.	ENSP00000453554	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000558256	Transcript	.	.	ENSG00000185087	26835	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.933)	.	deleterious(0.02)	.	F169B_HUMAN	FAM169B	HGNC	.	.	UPI0000199E5A	SNV	FAM169B,missense_variant,p.Asp31Asn,ENST00000332908,;FAM169B,missense_variant,p.Asp31Asn,ENST00000558256,;	341	110	130	SUCCESS
SRRM2	23524	.	GRCh37	16	2812757	2812757	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746448882	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	24	88	0	ENST00000301740.8:c.2228C>T	p.Ser743Phe	p.S743F	ENST00000301740	NM_016333.3	743	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS32373.1	2228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCCAATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	.	.	ENSP00000301740	.	11/15	.	.	.	.	.	.	.	.	rs746448882	11/15	PASS	ENST00000301740	Transcript	.	.	ENSG00000167978	16639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRRM2_HUMAN	SRRM2	HGNC	I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN	.	UPI000049DDFC	SNV	SRRM2,missense_variant,p.Ser743Phe,ENST00000576924,;SRRM2,missense_variant,p.Ser647Phe,ENST00000571378,;SRRM2,missense_variant,p.Ser743Phe,ENST00000301740,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000575701,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000572952,;	2777	88	98	SUCCESS
PMFBP1	83449	.	GRCh37	16	72198720	72198720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	47	0	ENST00000237353.10:c.108G>T	p.Gln36His	p.Q36H	ENST00000237353	NM_031293.2	36	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS32483.1	108	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCTGTCT	NONE	.	.	hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	.	.	ENSP00000237353	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000237353	Transcript	.	.	ENSG00000118557	17728	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.117)	.	deleterious(0.02)	.	PMFBP_HUMAN	PMFBP1	HGNC	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN	.	UPI0000141554	SNV	PMFBP1,missense_variant,p.Gln36His,ENST00000237353,;PMFBP1,missense_variant,p.Gln36His,ENST00000536211,;PMFBP1,missense_variant,p.Gln36His,ENST00000539172,;PMFBP1,missense_variant,p.Gln36His,ENST00000537465,;PMFBP1,missense_variant,p.Gln36His,ENST00000540440,;PMFBP1,missense_variant,p.Gln36His,ENST00000535461,;PMFBP1,5_prime_UTR_variant,,ENST00000355636,;PMFBP1,non_coding_transcript_exon_variant,,ENST00000543746,;PMFBP1,missense_variant,p.Gln36His,ENST00000379073,;	370	47	56	SUCCESS
MAP2K3	5606	.	GRCh37	17	21206497	21206497	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	4	120	0	ENST00000342679.4:c.519C>A		p.X173_splice	ENST00000342679	NM_145109.2	173	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11217.1	519	MUTECT|MUSE	.	CAGATCGTGCG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000345083	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000342679	Transcript	.	.	ENSG00000034152	6843	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MP2K3_HUMAN	MAP2K3	HGNC	Q6FI23_HUMAN,E9PRZ0_HUMAN,D3DXI2_HUMAN	.	UPI000012F48C	SNV	MAP2K3,synonymous_variant,p.%3D,ENST00000526076,;MAP2K3,synonymous_variant,p.%3D,ENST00000316920,;MAP2K3,synonymous_variant,p.%3D,ENST00000361818,;MAP2K3,synonymous_variant,p.%3D,ENST00000342679,;MAP2K3,splice_region_variant,,ENST00000395491,;MAP2K3,intron_variant,,ENST00000496046,;MAP2K3,downstream_gene_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000483928,;MAP2K3,downstream_gene_variant,,ENST00000479129,;	768	120	106	SUCCESS
LRRC37A4P	55073	.	GRCh37	17	43592315	43592315	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1386084721	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	13	0	ENST00000581296.1:n.3456G>A		p.*1152*	ENST00000581296				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|VARSCANS	.	TTCTTCGGCAG	NONE	.	.	.	.	.	.	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000581296	Transcript	.	.	ENSG00000214425	25479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LRRC37A4P	HGNC	.	.	.	SNV	RP11-798G7.5,intron_variant,,ENST00000253803,;LRRC37A4P,non_coding_transcript_exon_variant,,ENST00000579913,;LRRC37A4P,non_coding_transcript_exon_variant,,ENST00000581296,;LRRC37A4P,intron_variant,,ENST00000398305,;	3456	13	23	SUCCESS
PELP1	27043	.	GRCh37	17	4579352	4579352	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs747418545	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	62	0	ENST00000574876.1:c.959G>A	p.Arg320His	p.R320H	ENST00000574876		320	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	.	959	MUTECT|MUSE	.	GGCAGCGGGCC	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF429,Superfamily_domains:SSF48371	.	.	ENSP00000461625	.	8/17	.	.	.	.	.	.	.	.	rs747418545	8/17	PASS	ENST00000574876	Transcript	.	.	ENSG00000141456	30134	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.861)	.	.	.	PELP1_HUMAN	PELP1	HGNC	I3L4P1_HUMAN	.	UPI000013D80E	SNV	PELP1,missense_variant,p.Arg320His,ENST00000269230,;PELP1,missense_variant,p.Arg173His,ENST00000436683,;PELP1,missense_variant,p.Arg320His,ENST00000574876,;PELP1,missense_variant,p.Arg320His,ENST00000301396,;PELP1,missense_variant,p.Arg249His,ENST00000570571,;PELP1,missense_variant,p.Arg370His,ENST00000572293,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;AC091153.4,intron_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573506,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,upstream_gene_variant,,ENST00000575534,;PELP1,upstream_gene_variant,,ENST00000573242,;	977	62	44	SUCCESS
MRC2	9902	.	GRCh37	17	60759175	60759175	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	68	0	ENST00000303375.5:c.2703-23A>T		p.*901*	ENST00000303375	NM_006039.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11634.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTACCTCT	NONE	.	.	.	.	.	ENSP00000307513	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODIFIER	18/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,5_prime_UTR_variant,,ENST00000579432,;MRC2,5_prime_UTR_variant,,ENST00000446119,;MRC2,intron_variant,,ENST00000303375,;RNU6-446P,upstream_gene_variant,,ENST00000362827,;MRC2,intron_variant,,ENST00000583597,;MRC2,downstream_gene_variant,,ENST00000584682,;	.	68	70	SUCCESS
CSHL1	1444	.	GRCh37	17	61987890	61987890	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	89	0	ENST00000309894.5:c.196T>A	p.Tyr66Asn	p.Y66N	ENST00000309894	NM_022579.1	66	Tat/Aat	0	.	.	.	.	.	T	Y/N	protein_coding	YES	CCDS11652.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATAGGCTT	NONE	.	.	hmmpanther:PTHR11417:SF32,hmmpanther:PTHR11417,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266	.	.	ENSP00000309524	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000309894	Transcript	.	.	ENSG00000204414	2442	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.802)	.	tolerated(0.11)	.	CSHL_HUMAN	CSHL1	HGNC	I6L999_HUMAN	.	UPI00001602B9	SNV	CSHL1,missense_variant,p.Tyr66Asn,ENST00000309894,;CSHL1,synonymous_variant,p.%3D,ENST00000392824,;CSHL1,5_prime_UTR_variant,,ENST00000450719,;CSHL1,5_prime_UTR_variant,,ENST00000346606,;CSHL1,intron_variant,,ENST00000259003,;CSHL1,intron_variant,,ENST00000561003,;CSHL1,intron_variant,,ENST00000438387,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	196	89	92	SUCCESS
SLC25A19	60386	.	GRCh37	17	73273550	73273550	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	59	0	ENST00000320362.3:c.658C>G	p.Leu220Val	p.L220V	ENST00000320362		220	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS11720.1	658	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGGTTTT	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF59,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588	.	.	ENSP00000385312	.	5/6	.	.	.	.	.	.	.	.	COSM3989324	5/6	PASS	ENST00000402418	Transcript	.	.	ENSG00000125454	14409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.706)	.	tolerated(0.07)	1	TPC_HUMAN	SLC25A19	HGNC	Q5JPC1_HUMAN,J3QS02_HUMAN,J3QLV3_HUMAN,J3QL84_HUMAN,J3KTL0_HUMAN,J3KSI7_HUMAN,J3KS44_HUMAN	.	UPI000012963A	SNV	SLC25A19,missense_variant,p.Leu220Val,ENST00000320362,;SLC25A19,missense_variant,p.Leu220Val,ENST00000580994,;SLC25A19,missense_variant,p.Leu220Val,ENST00000416858,;SLC25A19,missense_variant,p.Leu220Val,ENST00000402418,;SLC25A19,missense_variant,p.Leu163Val,ENST00000375261,;SLC25A19,missense_variant,p.Leu220Val,ENST00000442286,;SLC25A19,intron_variant,,ENST00000582822,;SLC25A19,intron_variant,,ENST00000583332,;SLC25A19,downstream_gene_variant,,ENST00000580273,;RP11-649A18.12,downstream_gene_variant,,ENST00000585075,;RP11-649A18.12,downstream_gene_variant,,ENST00000582668,;	1568	59	56	SUCCESS
SEC14L1	6397	.	GRCh37	17	75186883	75186883	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	41	0	ENST00000430767.4:c.64-2A>T		p.X22_splice	ENST00000430767	NM_001204410.1	22		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42385.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAGGCCT	NONE	.	.	.	.	.	ENSP00000376268	.	.	.	.	.	.	.	.	.	.	COSM4069966,COSM4069965	.	PASS	ENST00000392476	Transcript	.	.	ENSG00000129657	10698	.	.	HIGH	5/19	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	S14L1_HUMAN	SEC14L1	HGNC	K7EQK4_HUMAN,K7ELU0_HUMAN,K7ELM0_HUMAN,K7EJ08_HUMAN,B4E0D1_HUMAN,B4DEZ7_HUMAN	.	UPI00006AB82A	SNV	SEC14L1,splice_acceptor_variant,,ENST00000436233,;SEC14L1,splice_acceptor_variant,,ENST00000591437,;SEC14L1,splice_acceptor_variant,,ENST00000413679,;SEC14L1,splice_acceptor_variant,,ENST00000586429,;SEC14L1,splice_acceptor_variant,,ENST00000443798,;SEC14L1,splice_acceptor_variant,,ENST00000430767,;SEC14L1,splice_acceptor_variant,,ENST00000589827,;SEC14L1,splice_acceptor_variant,,ENST00000431431,;SEC14L1,splice_acceptor_variant,,ENST00000587820,;SEC14L1,splice_acceptor_variant,,ENST00000588616,;SEC14L1,splice_acceptor_variant,,ENST00000585618,;SEC14L1,splice_acceptor_variant,,ENST00000392476,;SEC14L1,upstream_gene_variant,,ENST00000589202,;SEC14L1,upstream_gene_variant,,ENST00000590483,;SEC14L1,splice_acceptor_variant,,ENST00000586390,;SEC14L1,splice_acceptor_variant,,ENST00000591786,;	.	41	38	SUCCESS
PCYT2	5833	.	GRCh37	17	79865686	79865686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	54	0	ENST00000538936.2:c.455G>T	p.Arg152Leu	p.R152L	ENST00000538936	NM_001256435.1	152	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS54178.1	455	RADIA|MUSE|VARSCANS	.	GCATGCGGCCC	NONE	.	.	Superfamily_domains:SSF52374,Gene3D:3.40.50.620,hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF23	.	.	ENSP00000442050	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000538721	Transcript	.	.	ENSG00000185813	8756	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.982)	.	deleterious(0)	.	PCY2_HUMAN	PCYT2	HGNC	I3L1F9_HUMAN,I3L1C4_HUMAN	.	UPI0000D4CB10	SNV	PCYT2,missense_variant,p.Arg74Leu,ENST00000331285,;PCYT2,missense_variant,p.Arg152Leu,ENST00000538936,;PCYT2,missense_variant,p.Arg74Leu,ENST00000573927,;PCYT2,missense_variant,p.Arg98Leu,ENST00000576343,;PCYT2,missense_variant,p.Arg152Leu,ENST00000571105,;PCYT2,missense_variant,p.Arg152Leu,ENST00000538721,;PCYT2,missense_variant,p.Arg152Leu,ENST00000573636,;PCYT2,missense_variant,p.Arg120Leu,ENST00000570391,;PCYT2,missense_variant,p.Arg74Leu,ENST00000570388,;PCYT2,upstream_gene_variant,,ENST00000572995,;NPB,downstream_gene_variant,,ENST00000333383,;SIRT7,downstream_gene_variant,,ENST00000328666,;PCYT2,downstream_gene_variant,,ENST00000572157,;NPB,downstream_gene_variant,,ENST00000573081,;PCYT2,downstream_gene_variant,,ENST00000572473,;PCYT2,3_prime_UTR_variant,,ENST00000573401,;PCYT2,non_coding_transcript_exon_variant,,ENST00000571581,;PCYT2,upstream_gene_variant,,ENST00000574155,;SIRT7,downstream_gene_variant,,ENST00000536038,;PCYT2,upstream_gene_variant,,ENST00000571944,;SIRT7,downstream_gene_variant,,ENST00000572976,;SIRT7,downstream_gene_variant,,ENST00000574992,;PCYT2,upstream_gene_variant,,ENST00000572924,;PCYT2,upstream_gene_variant,,ENST00000574343,;SIRT7,downstream_gene_variant,,ENST00000571832,;	506	54	50	SUCCESS
FASN	2194	.	GRCh37	17	80039126	80039126	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	38	0	ENST00000306749.2:c.6509del	p.Leu2170ProfsTer48	p.L2170Pfs*48	ENST00000306749	NM_004104.4	2170	cTc/cc	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS11801.1	6509	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGTTGAGCTCA	NONE	.	.	PROSITE_profiles:PS50075,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Pfam_domain:PF00550,Gene3D:1.10.1200.10,SMART_domains:SM00823,Superfamily_domains:SSF47336	.	.	ENSP00000304592	.	38/43	.	.	.	.	.	.	.	.	.	38/43	PASS	ENST00000306749	Transcript	.	.	ENSG00000169710	3594	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FAS_HUMAN	FASN	HGNC	.	.	UPI000013EB82	deletion	FASN,frameshift_variant,p.Leu2170ProfsTer48,ENST00000306749,;FASN,intron_variant,,ENST00000579758,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000580382,;	6728	38	55	SUCCESS
ARHGEF15	22899	.	GRCh37	17	8216406	8216417	+	inframe_deletion	In_Frame_Del	DEL	CGGTCACCCTGC	CGGTCACCCTGC	-	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	CGGTCACCCTGC	CGGTCACCCTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	47	0	ENST00000361926.3:c.770_781del	p.Gly257_Ala260del	p.G257_A260del	ENST00000361926	NM_173728.3	256	atCGGTCACCCTGCc/atc	0	.	.	.	.	.	-	IGHPA/I	protein_coding	YES	CCDS11139.1	768-779	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCATCGGTCACCCTGCCGTTG	NONE	.	.	hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7	.	.	ENSP00000355026	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000361926	Transcript	.	.	ENSG00000198844	15590	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARHGF_HUMAN	ARHGEF15	HGNC	J3QS60_HUMAN,J3KT46_HUMAN	.	UPI000013D2C0	deletion	ARHGEF15,inframe_deletion,p.Gly257_Ala260del,ENST00000421050,;ARHGEF15,inframe_deletion,p.Gly257_Ala260del,ENST00000361926,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;ARHGEF15,downstream_gene_variant,,ENST00000579439,;AC135178.7,downstream_gene_variant,,ENST00000458568,;ARHGEF15,inframe_deletion,p.Gly17_Ala20del,ENST00000581809,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;	878-889	47	31	SUCCESS
USP43	124739	.	GRCh37	17	9615298	9615298	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	61	0	ENST00000285199.7:c.2184C>T	p.Ser728=	p.S728=	ENST00000285199	NM_001267576.1	728	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS45610.1	2184	MUTECT|MUSE	.	AGCTCCTCCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24006:SF408,hmmpanther:PTHR24006	.	.	ENSP00000285199	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000285199	Transcript	.	.	ENSG00000154914	20072	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP43_HUMAN	USP43	HGNC	.	.	UPI0000047AFB	SNV	USP43,synonymous_variant,p.%3D,ENST00000574408,;USP43,synonymous_variant,p.%3D,ENST00000570475,;USP43,synonymous_variant,p.%3D,ENST00000285199,;USP43,synonymous_variant,p.%3D,ENST00000573955,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,;	2280	61	44	SUCCESS
SERPINB3	6317	.	GRCh37	18	61323009	61323009	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs773929167	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	53	129	0	ENST00000283752.5:c.1055T>A	p.Phe352Tyr	p.F352Y	ENST00000283752	NM_006919.2	352	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS11987.1	1055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCGAATCCT	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000283752	.	8/8	.	.	.	.	.	.	.	.	rs773929167	8/8	PASS	ENST00000283752	Transcript	.	.	ENSG00000057149	10569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.74)	.	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,missense_variant,p.Phe300Tyr,ENST00000332821,;SERPINB3,missense_variant,p.Phe352Tyr,ENST00000283752,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;	1199	129	121	SUCCESS
SERPINB3	6317	.	GRCh37	18	61323101	61323101	+	synonymous_variant	Silent	SNP	G	G	A	rs763567283	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	30	101	0	ENST00000283752.5:c.963C>T	p.Arg321=	p.R321=	ENST00000283752	NM_006919.2	321	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11987.1	963	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCGCGGCT	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000283752	.	8/8	.	.	.	.	.	.	.	.	rs763567283,COSM3144526	8/8	PASS	ENST00000283752	Transcript	.	.	ENSG00000057149	10569	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,synonymous_variant,p.%3D,ENST00000332821,;SERPINB3,synonymous_variant,p.%3D,ENST00000283752,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;	1107	101	122	SUCCESS
SERPINB10	5273	.	GRCh37	18	61584734	61584734	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	100	221	0	ENST00000238508.3:c.213A>C	p.Glu71Asp	p.E71D	ENST00000238508	NM_005024.1	71	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS11990.1	213	RADIA|SOMATICSNIPER|VARSCANS	.	CCTGAAAGTGA	NONE	.	.	hmmpanther:PTHR11461:SF136,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000238508	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000238508	Transcript	.	.	ENSG00000242550	8942	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.015)	.	tolerated(0.5)	.	SPB10_HUMAN	SERPINB10	HGNC	.	.	UPI000013558E	SNV	SERPINB10,missense_variant,p.Glu71Asp,ENST00000238508,;SERPINB10,downstream_gene_variant,,ENST00000397996,;SERPINB10,downstream_gene_variant,,ENST00000418725,;	272	221	284	SUCCESS
ZNF14	7561	.	GRCh37	19	19823308	19823308	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	64	0	ENST00000344099.3:c.782G>A	p.Ser261Asn	p.S261N	ENST00000344099	NM_021030.2	261	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS12409.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAACTGAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF21,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000340514	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000344099	Transcript	.	.	ENSG00000105708	12924	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	tolerated(0.22)	.	ZNF14_HUMAN	ZNF14	HGNC	.	.	UPI00001E058E	SNV	ZNF14,missense_variant,p.Ser261Asn,ENST00000344099,;CTC-412M14.5,downstream_gene_variant,,ENST00000604034,;	921	64	104	SUCCESS
LMNB2	84823	.	GRCh37	19	2435009	2435009	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	16	0	ENST00000582871.1:c.785A>T	p.Tyr262Phe	p.Y262F	ENST00000582871	NM_032737.3	262	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS12090.2	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTAGGTC	NONE	.	.	hmmpanther:PTHR23239:SF152,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000327054	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000325327	Transcript	1	.	ENSG00000176619	6638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.45)	.	.	LMNB2	HGNC	J9JID7_HUMAN	.	UPI000059D625	SNV	LMNB2,missense_variant,p.Tyr262Phe,ENST00000582871,;LMNB2,missense_variant,p.Tyr282Phe,ENST00000325327,;LMNB2,non_coding_transcript_exon_variant,,ENST00000527409,;LMNB2,non_coding_transcript_exon_variant,,ENST00000534495,;LMNB2,upstream_gene_variant,,ENST00000532465,;LMNB2,upstream_gene_variant,,ENST00000475819,;LMNB2,upstream_gene_variant,,ENST00000490554,;	908	16	15	SUCCESS
ZNF536	9745	.	GRCh37	19	31039817	31039817	+	synonymous_variant	Silent	SNP	C	C	T	rs202189721	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	17	73	0	ENST00000355537.3:c.3291C>T	p.Thr1097=	p.T1097=	ENST00000355537	NM_014717.1	1097	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32984.1	3291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCGGCCA	BUFFER|p.D1101N|c.3301G>A|3	byCluster	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5	.	.	ENSP00000347730	.	4/5	.	.	.	.	.	.	.	.	rs202189721	4/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,upstream_gene_variant,,ENST00000592773,;ZNF536,downstream_gene_variant,,ENST00000585628,;	3438	73	103	SUCCESS
TDRD12	91646	.	GRCh37	19	33210858	33210858	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	14	0	ENST00000444215.2:c.-121G>T		p.*41*	ENST00000444215				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46038.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTAAAGGTGGA	NONE	.	121	.	.	.	ENSP00000390621	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421545	Transcript	.	.	ENSG00000173809	25044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDR12_HUMAN	TDRD12	HGNC	.	.	UPI0000202021	SNV	TDRD12,5_prime_UTR_variant,,ENST00000444215,;TDRD12,upstream_gene_variant,,ENST00000421545,;CTD-2538C1.3,upstream_gene_variant,,ENST00000587554,;	.	14	28	SUCCESS
CEP89	84902	.	GRCh37	19	33378692	33378692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	68	0	ENST00000305768.5:c.1931A>T	p.Asn644Ile	p.N644I	ENST00000305768	NM_032816.3	644	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS32987.1	1931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTTGCTT	NONE	.	.	.	.	.	ENSP00000306105	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000305768	Transcript	1	.	ENSG00000121289	25907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.604)	.	deleterious(0)	.	CEP89_HUMAN	CEP89	HGNC	.	.	UPI000020202C	SNV	CEP89,missense_variant,p.Asn644Ile,ENST00000305768,;CEP89,3_prime_UTR_variant,,ENST00000591698,;CEP89,3_prime_UTR_variant,,ENST00000586984,;	2020	68	78	SUCCESS
ZNF383	163087	.	GRCh37	19	37734528	37734528	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	14	81	0	ENST00000352998.3:c.1390G>C	p.Asp464His	p.D464H	ENST00000352998	NM_152604.1	464	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS12501.1	1390	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGATCTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF172,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000464871	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000589413	Transcript	.	.	ENSG00000188283	18609	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.607)	.	tolerated(0.54)	.	ZN383_HUMAN	ZNF383	HGNC	K7EJN0_HUMAN,B3KRK0_HUMAN	.	UPI00000717CC	SNV	ZNF383,missense_variant,p.Asp464His,ENST00000589413,;ZNF383,missense_variant,p.Asp464His,ENST00000352998,;ZNF383,missense_variant,p.Asp464His,ENST00000590503,;ZNF383,downstream_gene_variant,,ENST00000588371,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;ZNF383,downstream_gene_variant,,ENST00000588250,;	1973	81	100	SUCCESS
RYR1	6261	.	GRCh37	19	38945876	38945876	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	86	0	ENST00000359596.3:c.1442G>C	p.Gly481Ala	p.G481A	ENST00000359596		481	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS33011.1	1442	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGGGGATGC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF01365,Gene3D:1n4kA02,Superfamily_domains:0048280	.	.	ENSP00000352608	.	14/106	.	.	.	.	.	.	.	.	COSM3533380	14/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	.	1	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gly481Ala,ENST00000355481,;RYR1,missense_variant,p.Gly481Ala,ENST00000360985,;RYR1,missense_variant,p.Gly481Ala,ENST00000359596,;	1442	86	64	SUCCESS
SPTBN4	57731	.	GRCh37	19	41021261	41021261	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754511407	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	19	61	0	ENST00000352632.3:c.2809G>A	p.Val937Ile	p.V937I	ENST00000352632		937	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS12559.1	2809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGTTCTG	NONE	byFrequency	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000263373	.	15/36	.	.	.	.	.	.	.	.	rs754511407,COSM996725	15/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.101)	.	tolerated(0.65)	0,1	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,missense_variant,p.Val937Ile,ENST00000338932,;SPTBN4,missense_variant,p.Val937Ile,ENST00000352632,;SPTBN4,missense_variant,p.Val937Ile,ENST00000598249,;SPTBN4,missense_variant,p.Val937Ile,ENST00000595535,;SPTBN4,missense_variant,p.Val937Ile,ENST00000344104,;SPTBN4,missense_variant,p.Val329Ile,ENST00000597389,;	2895	61	98	SUCCESS
ZNF576	79177	.	GRCh37	19	44103150	44103150	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	32	63	0	ENST00000336564.4:c.253G>A	p.Ala85Thr	p.A85T	ENST00000336564	NM_001145347.1	85	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12625.1	253	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGCCCTA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF72,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337852	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336564	Transcript	.	.	ENSG00000124444	28357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.568)	.	tolerated(0.08)	.	ZN576_HUMAN	ZNF576	HGNC	.	.	UPI000003602B	SNV	ZNF576,missense_variant,p.Ala85Thr,ENST00000525771,;ZNF576,missense_variant,p.Ala85Thr,ENST00000528387,;ZNF576,missense_variant,p.Ala85Thr,ENST00000391965,;ZNF576,missense_variant,p.Ala85Thr,ENST00000336564,;ZNF576,missense_variant,p.Ala85Thr,ENST00000529930,;ZNF576,missense_variant,p.Ala85Thr,ENST00000533118,;SRRM5,intron_variant,,ENST00000607544,;SRRM5,intron_variant,,ENST00000526798,;IRGQ,upstream_gene_variant,,ENST00000422989,;IRGQ,upstream_gene_variant,,ENST00000602269,;IRGQ,upstream_gene_variant,,ENST00000598324,;ZNF576,downstream_gene_variant,,ENST00000595041,;	407	63	115	SUCCESS
MYH14	79784	.	GRCh37	19	50789947	50789947	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	28	88	0	ENST00000376970.2:c.4724A>T	p.Lys1575Met	p.K1575M	ENST00000376970	NM_024729.3	1575	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS54295.1	4748	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCAAGAGCG	NONE	.	.	hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000470298	.	34/43	.	.	.	.	.	.	.	.	.	34/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Lys1583Met,ENST00000440075,;MYH14,missense_variant,p.Lys1583Met,ENST00000601313,;MYH14,missense_variant,p.Lys1575Met,ENST00000376970,;MYH14,missense_variant,p.Lys1542Met,ENST00000596571,;MYH14,missense_variant,p.Lys1550Met,ENST00000425460,;MYH14,missense_variant,p.Lys1550Met,ENST00000598205,;MYH14,missense_variant,p.Lys1583Met,ENST00000262269,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	4778	88	92	SUCCESS
TMC4	147798	.	GRCh37	19	54672012	54672012	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	35	127	0	ENST00000376591.4:c.700C>T	p.Leu234=	p.L234=	ENST00000376591	NM_001145303.1	234	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46174.1	700	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCAGGTAAC	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF36	.	.	ENSP00000365776	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000376591	Transcript	.	.	ENSG00000167608	22998	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC4_HUMAN	TMC4	HGNC	C9JFU4_HUMAN	.	UPI000040C55F	SNV	TMC4,synonymous_variant,p.%3D,ENST00000376591,;TMC4,synonymous_variant,p.%3D,ENST00000446291,;TMC4,synonymous_variant,p.%3D,ENST00000301187,;TMC4,upstream_gene_variant,,ENST00000416963,;TMC4,non_coding_transcript_exon_variant,,ENST00000476013,;TMC4,intron_variant,,ENST00000479750,;TMC4,non_coding_transcript_exon_variant,,ENST00000497518,;TMC4,upstream_gene_variant,,ENST00000465790,;TMC4,upstream_gene_variant,,ENST00000468343,;	832	127	122	SUCCESS
MUC16	94025	.	GRCh37	19	9085994	9085994	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs752320719	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	33	57	0	ENST00000397910.4:c.5821A>T	p.Ile1941Phe	p.I1941F	ENST00000397910	NM_024690.2	1941	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS54212.1	5821	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATGGATG	NONE	byFrequency	.	.	.	.	ENSP00000381008	.	1/84	.	.	.	.	.	.	.	.	rs752320719	1/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ile1941Phe,ENST00000397910,;	6025	57	65	SUCCESS
ARID3A	1820	.	GRCh37	19	968403	968403	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	49	140	0	ENST00000263620.3:c.1496-2A>T		p.X499_splice	ENST00000263620	NM_005224.2	499		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12050.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACAGCCTC	NONE	.	.	.	.	.	ENSP00000263620	.	.	.	.	.	.	.	.	.	.	COSM1004338	.	PASS	ENST00000263620	Transcript	.	.	ENSG00000116017	3031	.	.	HIGH	7/8	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ARI3A_HUMAN	ARID3A	HGNC	.	.	UPI0000129881	SNV	ARID3A,splice_acceptor_variant,,ENST00000587532,;ARID3A,splice_acceptor_variant,,ENST00000263620,;ARID3A,splice_acceptor_variant,,ENST00000590749,;ARID3A,splice_acceptor_variant,,ENST00000590251,;ARID3A,downstream_gene_variant,,ENST00000585733,;	.	140	135	SUCCESS
SLC6A17	388662	.	GRCh37	1	110714799	110714799	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	39	0	ENST00000331565.4:c.404T>A	p.Ile135Lys	p.I135K	ENST00000331565	NM_001010898.2	135	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS30799.1	404	MUTECT|MUSE|VARSCANS	.	CTATATATGTC	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF102,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000330199	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000331565	Transcript	.	.	ENSG00000197106	31399	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.388)	.	deleterious(0)	.	S6A17_HUMAN	SLC6A17	HGNC	.	.	UPI0000470B3D	SNV	SLC6A17,missense_variant,p.Ile135Lys,ENST00000331565,;RP5-1028L10.1,non_coding_transcript_exon_variant,,ENST00000443008,;RP5-1028L10.1,upstream_gene_variant,,ENST00000418579,;RP5-1028L10.1,upstream_gene_variant,,ENST00000430098,;	889	39	23	SUCCESS
ARNT	405	.	GRCh37	1	150788840	150788840	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	18	56	0	ENST00000358595.5:c.1845A>T	p.Ser615=	p.S615=	ENST00000358595	NM_178427.2	615	tcA/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS970.1	1845	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGATGG	NONE	.	.	hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF50,Superfamily_domains:SSF88633	.	.	ENSP00000351407	.	19/22	.	.	.	.	.	.	.	.	.	19/22	PASS	ENST00000358595	Transcript	.	.	ENSG00000143437	700	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARNT_HUMAN	ARNT	HGNC	.	.	UPI0000030984	SNV	ARNT,synonymous_variant,p.%3D,ENST00000358595,;ARNT,synonymous_variant,p.%3D,ENST00000354396,;ARNT,synonymous_variant,p.%3D,ENST00000505755,;ARNT,synonymous_variant,p.%3D,ENST00000515192,;RNU6-1309P,upstream_gene_variant,,ENST00000363305,;ARNT,intron_variant,,ENST00000471844,;ARNT,downstream_gene_variant,,ENST00000510273,;	2046	56	104	SUCCESS
FLG	2312	.	GRCh37	1	152276112	152276112	+	synonymous_variant	Silent	SNP	C	C	T	rs201725426	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	192	24	133	0	ENST00000368799.1:c.11250G>A	p.Ala3750=	p.A3750=	ENST00000368799	NM_002016.1	3750	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS30860.1	11250	RADIA|MUSE|VARSCANS	.	TGGGACGCTGA	NONE	byFrequency|byCluster|by1000G	.	.	T:0.005	.	ENSP00000357789	T:0.001	3/3	.	.	.	.	.	.	.	.	rs201725426	3/3	PASS	ENST00000368799	Transcript	.	T:0.0012	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	11286	133	217	SUCCESS
FLG	2312	.	GRCh37	1	152278842	152278842	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	70	170	0	ENST00000368799.1:c.8520A>T	p.Thr2840=	p.T2840=	ENST00000368799	NM_002016.1	2840	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS30860.1	8520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTTGTTCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,synonymous_variant,p.%3D,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8556	170	305	SUCCESS
USP48	84196	.	GRCh37	1	22021689	22021689	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	49	0	ENST00000308271.9:c.2753del	p.Lys918ArgfsTer8	p.K918Rfs*8	ENST00000308271	NM_032236.5	918	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS30623.1	2753	INDELOCATOR*|VARSCANI*|PINDEL	.	GATATCTTTTGC	NONE	.	.	.	.	.	ENSP00000309262	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	deletion	USP48,frameshift_variant,p.Lys930ArgfsTer8,ENST00000529637,;USP48,frameshift_variant,p.Lys918ArgfsTer8,ENST00000308271,;USP48,intron_variant,,ENST00000374732,;USP48,intron_variant,,ENST00000400301,;USP48,non_coding_transcript_exon_variant,,ENST00000464577,;	3402	49	65	SUCCESS
RYR2	6262	.	GRCh37	1	237872824	237872824	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	63	71	0	ENST00000366574.2:c.10187T>G	p.Phe3396Cys	p.F3396C	ENST00000366574	NM_001035.2	3396	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS55691.1	10187	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTTCCGCA	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	70/105	.	.	.	.	.	.	.	.	.	70/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Phe3380Cys,ENST00000542537,;RYR2,missense_variant,p.Phe3396Cys,ENST00000366574,;RYR2,missense_variant,p.Phe3394Cys,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	10504	72	146	SUCCESS
ARID1A	8289	.	GRCh37	1	27094294	27094294	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	71	0	ENST00000324856.7:c.3002C>G	p.Ser1001Cys	p.S1001C	ENST00000324856	NM_006015.4	1001	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS285.1	3002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCTACTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Gene3D:1.10.150.60	.	.	ENSP00000320485	.	11/20	.	.	.	.	.	.	.	.	.	11/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Ser1001Cys,ENST00000457599,;ARID1A,missense_variant,p.Ser618Cys,ENST00000374152,;ARID1A,missense_variant,p.Ser1001Cys,ENST00000324856,;ARID1A,upstream_gene_variant,,ENST00000430799,;RN7SL501P,downstream_gene_variant,,ENST00000578818,;ARID1A,non_coding_transcript_exon_variant,,ENST00000430291,;	3373	71	65	SUCCESS
LRRC41	10489	.	GRCh37	1	46746117	46746117	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	62	284	0	ENST00000343304.6:c.1872C>T	p.Ala624=	p.A624=	ENST00000343304	NM_006369.4	624	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS533.1	1872	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTGGCACT	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR15354:SF1,hmmpanther:PTHR15354	.	.	ENSP00000343298	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000343304	Transcript	.	.	ENSG00000132128	16917	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC41_HUMAN	LRRC41	HGNC	.	.	UPI0000225CC7	SNV	LRRC41,synonymous_variant,p.%3D,ENST00000343304,;RAD54L,downstream_gene_variant,,ENST00000488942,;RAD54L,downstream_gene_variant,,ENST00000371975,;RAD54L,downstream_gene_variant,,ENST00000442598,;LRRC41,non_coding_transcript_exon_variant,,ENST00000496156,;LRRC41,non_coding_transcript_exon_variant,,ENST00000472710,;RAD54L,downstream_gene_variant,,ENST00000459678,;LRRC41,downstream_gene_variant,,ENST00000498402,;	2158	285	290	SUCCESS
EFCAB14	9813	.	GRCh37	1	47154101	47154101	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	20	124	0	ENST00000371933.3:c.911A>T	p.Gln304Leu	p.Q304L	ENST00000371933	NM_014774.2	304	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS30706.1	911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTGGGTA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15717,hmmpanther:PTHR15717:SF2	.	.	ENSP00000361001	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000371933	Transcript	.	.	ENSG00000159658	29051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	.	deleterious(0.01)	.	EFC14_HUMAN	EFCAB14	HGNC	.	.	UPI000003B443	SNV	EFCAB14,missense_variant,p.Gln304Leu,ENST00000371933,;EFCAB14,intron_variant,,ENST00000544071,;EFCAB14-AS1,intron_variant,,ENST00000442839,;EFCAB14-AS1,intron_variant,,ENST00000418985,;EFCAB14,non_coding_transcript_exon_variant,,ENST00000484461,;EFCAB14,intron_variant,,ENST00000479745,;EFCAB14,upstream_gene_variant,,ENST00000459797,;EFCAB14,intron_variant,,ENST00000487741,;EFCAB14,upstream_gene_variant,,ENST00000481623,;	1888	124	120	SUCCESS
GFI1	2672	.	GRCh37	1	92946582	92946582	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746713702	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	26	146	0	ENST00000294702.5:c.362C>T	p.Pro121Leu	p.P121L	ENST00000294702	NM_005263.3	121	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS30773.1	362	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACGGTTTG	NONE	byFrequency	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF106	.	.	ENSP00000359357	.	4/7	.	.	.	.	.	.	.	.	rs746713702,COSM123344	4/7	PASS	ENST00000370332	Transcript	.	.	ENSG00000162676	4237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.011)	.	deleterious_low_confidence(0.05)	0,1	GFI1_HUMAN	GFI1	HGNC	D3DT36_HUMAN	.	UPI000006D7FD	SNV	GFI1,missense_variant,p.Pro121Leu,ENST00000370332,;GFI1,missense_variant,p.Pro121Leu,ENST00000294702,;GFI1,missense_variant,p.Pro121Leu,ENST00000427103,;GFI1,downstream_gene_variant,,ENST00000483490,;	681	146	140	SUCCESS
C20orf26	0	.	GRCh37	20	20257971	20257971	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	94	0	ENST00000245957.5:c.2665G>A	p.Ala889Thr	p.A889T	ENST00000245957	NM_015585.3	889	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS33447.1	2665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGACGCGCTA	NONE	.	.	hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178	.	.	ENSP00000245957	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000245957	Transcript	.	.	ENSG00000089101	15872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.571)	.	deleterious(0)	.	CT026_HUMAN	C20orf26	HGNC	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN	.	UPI0000206AE4	SNV	C20orf26,missense_variant,p.Ala245Thr,ENST00000377309,;C20orf26,missense_variant,p.Ala889Thr,ENST00000245957,;C20orf26,intron_variant,,ENST00000488640,;C20orf26,missense_variant,p.Ala245Thr,ENST00000377308,;	2741	95	101	SUCCESS
NAPB	63908	.	GRCh37	20	23360527	23360527	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	316	102	328	0	ENST00000377026.4:c.712T>G	p.Ser238Ala	p.S238A	ENST00000377026	NM_022080.2	238	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS13152.1	712	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGAATCAG	NONE	.	.	hmmpanther:PTHR13768:SF12,hmmpanther:PTHR13768,Pfam_domain:PF14938,Gene3D:1.25.40.10,Superfamily_domains:SSF48452,Prints_domain:PR00448	.	.	ENSP00000366225	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000377026	Transcript	.	.	ENSG00000125814	15751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	tolerated(0.06)	.	SNAB_HUMAN	NAPB	HGNC	B4DGP9_HUMAN	.	UPI0000004164	SNV	NAPB,missense_variant,p.Ser238Ala,ENST00000377026,;NAPB,missense_variant,p.Ser144Ala,ENST00000398425,;NAPB,missense_variant,p.Ser199Ala,ENST00000432543,;RNA5SP479,downstream_gene_variant,,ENST00000364858,;NAPB,non_coding_transcript_exon_variant,,ENST00000468128,;NAPB,non_coding_transcript_exon_variant,,ENST00000472855,;	798	329	418	SUCCESS
CST5	1473	.	GRCh37	20	23856826	23856826	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	51	91	0	ENST00000304710.4:c.428A>T	p.Ter143LeuextTer9	p.*143Lext*9	ENST00000304710	NM_001900.4	143	tAg/tTg	0	.	.	.	.	.	A	*/L	protein_coding	YES	CCDS13162.1	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTAGACT	NONE	.	.	.	.	.	ENSP00000307132	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304710	Transcript	.	.	ENSG00000170367	2477	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYTD_HUMAN	CST5	HGNC	.	.	UPI0000128D6F	SNV	CST5,stop_lost,p.Ter143LeuextTer9,ENST00000304710,;	502	91	132	SUCCESS
DEFB119	245932	.	GRCh37	20	29978247	29978247	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1364854079	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	47	118	1	ENST00000376321.3:c.40A>T	p.Ile14Leu	p.I14L	ENST00000376321	NM_153289.3	14	Ata/Tta	0	.	.	.	.	.	A	I/L	protein_coding	YES	CCDS33455.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATGGCCA	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15001	.	.	ENSP00000365492	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000376315	Transcript	.	.	ENSG00000180483	18099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(1)	.	DB119_HUMAN	DEFB119	HGNC	Q5GRG0_HUMAN	.	UPI0000128D95	SNV	DEFB119,missense_variant,p.Ile14Leu,ENST00000376321,;DEFB119,missense_variant,p.Ile14Leu,ENST00000339144,;DEFB119,missense_variant,p.Ile14Leu,ENST00000376315,;DEFB119,non_coding_transcript_exon_variant,,ENST00000492344,;	40	119	179	SUCCESS
TTI1	9675	.	GRCh37	20	36642105	36642105	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	52	102	0	ENST00000373447.3:c.114A>T	p.Gln38His	p.Q38H	ENST00000373447		38	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS13300.1	114	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTTGTAG	NONE	.	.	Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460	.	.	ENSP00000362547	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000373448	Transcript	.	.	ENSG00000101407	29029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.14)	.	TTI1_HUMAN	TTI1	HGNC	D6W4K3_HUMAN	.	UPI000012DB27	SNV	TTI1,missense_variant,p.Gln38His,ENST00000449821,;TTI1,missense_variant,p.Gln38His,ENST00000373447,;TTI1,missense_variant,p.Gln38His,ENST00000373448,;TTI1,non_coding_transcript_exon_variant,,ENST00000487362,;	353	102	178	SUCCESS
KIAA1755	85449	.	GRCh37	20	36856566	36856566	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1455198884	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	29	0	ENST00000279024.4:c.1948G>A	p.Ala650Thr	p.A650T	ENST00000279024	NM_001029864.1	650	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33467.1	1948	RADIA|MUTECT|MUSE	.	CAGGGCGCTGA	NONE	.	.	hmmpanther:PTHR22826:SF114,hmmpanther:PTHR22826,Pfam_domain:PF13716	.	.	ENSP00000279024	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000279024	Transcript	.	.	ENSG00000149633	29372	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	K1755_HUMAN	KIAA1755	HGNC	.	.	UPI000041AADF	SNV	KIAA1755,missense_variant,p.Ala650Thr,ENST00000279024,;KIAA1755,upstream_gene_variant,,ENST00000435901,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000496900,;	2220	29	23	SUCCESS
RALGAPB	57148	.	GRCh37	20	37117219	37117219	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	38	89	0	ENST00000262879.6:c.144T>G	p.Pro48=	p.P48=	ENST00000262879		48	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS13305.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTTCAGT	NONE	.	.	hmmpanther:PTHR21344	.	.	ENSP00000262879	.	2/30	.	.	.	.	.	.	.	.	.	2/30	PASS	ENST00000262879	Transcript	.	.	ENSG00000170471	29221	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RLGPB_HUMAN	RALGAPB	HGNC	Q6MZJ2_HUMAN	.	UPI000000DBFD	SNV	RALGAPB,synonymous_variant,p.%3D,ENST00000397040,;RALGAPB,synonymous_variant,p.%3D,ENST00000397042,;RALGAPB,synonymous_variant,p.%3D,ENST00000262879,;RALGAPB,synonymous_variant,p.%3D,ENST00000537204,;RALGAPB,5_prime_UTR_variant,,ENST00000397038,;	428	89	167	SUCCESS
MATN4	8785	.	GRCh37	20	43929960	43929960	+	splice_donor_variant	Splice_Site	DEL	C	C	-	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	24	46	0	ENST00000372754.1:c.889+1del		p.X297_splice	ENST00000372754		297		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13348.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCTCACCCCTG	NONE	.	.	.	.	.	ENSP00000440328	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537548	Transcript	.	.	ENSG00000124159	6910	.	.	HIGH	5/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MATN4_HUMAN	MATN4	HGNC	.	.	UPI000016054E	deletion	MATN4,splice_donor_variant,,ENST00000372756,;MATN4,splice_donor_variant,,ENST00000372754,;MATN4,splice_donor_variant,,ENST00000537548,;MATN4,splice_donor_variant,,ENST00000342716,;MATN4,splice_donor_variant,,ENST00000372751,;MATN4,intron_variant,,ENST00000353917,;MATN4,intron_variant,,ENST00000360607,;	.	46	127	SUCCESS
ZNF334	55713	.	GRCh37	20	45129982	45129982	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs763384880	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	18	109	0	ENST00000347606.4:c.1996C>T	p.Arg666Cys	p.R666C	ENST00000347606	NM_018102.4	666	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS33480.1	1996	MUTECT|MUSE|VARSCANS	.	GTGGCGAAATG	SITE|p.R666C|c.1996C>T|4	byFrequency	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000255129	.	5/5	.	.	.	.	.	.	.	.	rs763384880,COSM1412184	5/5	PASS	ENST00000347606	Transcript	.	.	ENSG00000198185	15806	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.019)	.	tolerated(0.22)	0,1	ZN334_HUMAN	ZNF334	HGNC	M0R3E1_HUMAN	.	UPI000004A0FE	SNV	ZNF334,missense_variant,p.Arg689Cys,ENST00000593880,;ZNF334,missense_variant,p.Arg666Cys,ENST00000347606,;ZNF334,missense_variant,p.Arg628Cys,ENST00000457685,;ZNF334,downstream_gene_variant,,ENST00000596323,;	2179	109	200	SUCCESS
OGFR	11054	.	GRCh37	20	61443964	61443964	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	40	66	0	ENST00000290291.6:c.997G>C	p.Glu333Gln	p.E333Q	ENST00000290291	NM_007346.2	333	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS13504.1	997	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGAGCAT	NONE	.	.	hmmpanther:PTHR14015:SF1,hmmpanther:PTHR14015	.	.	ENSP00000290291	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000290291	Transcript	.	.	ENSG00000060491	15768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	tolerated(0.32)	.	OGFR_HUMAN	OGFR	HGNC	Q4VXW3_HUMAN	.	UPI000013F107	SNV	OGFR,missense_variant,p.Glu281Gln,ENST00000370461,;OGFR,missense_variant,p.Glu333Gln,ENST00000290291,;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000343916,;COL9A3,upstream_gene_variant,,ENST00000489045,;COL9A3,upstream_gene_variant,,ENST00000477612,;	1022	66	100	SUCCESS
CRYZL1	9946	.	GRCh37	21	34988699	34988699	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	14	0	ENST00000381554.3:c.262+313T>A		p.*88*	ENST00000381554	NM_145858.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13633.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAAGCAAT	NONE	.	.	.	.	.	ENSP00000370966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381554	Transcript	.	.	ENSG00000205758	2420	.	.	MODIFIER	5/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QORL1_HUMAN	CRYZL1	HGNC	C9K0F7_HUMAN,C9JQD0_HUMAN,C9JAL0_HUMAN	.	UPI0000038C61	SNV	CRYZL1,3_prime_UTR_variant,,ENST00000413017,;CRYZL1,intron_variant,,ENST00000431177,;CRYZL1,intron_variant,,ENST00000445393,;CRYZL1,intron_variant,,ENST00000361534,;CRYZL1,intron_variant,,ENST00000417979,;AP000304.12,intron_variant,,ENST00000429238,;CRYZL1,intron_variant,,ENST00000440526,;CRYZL1,intron_variant,,ENST00000381554,;CRYZL1,intron_variant,,ENST00000381540,;CRYZL1,intron_variant,,ENST00000290244,;CRYZL1,intron_variant,,ENST00000426935,;CRYZL1,intron_variant,,ENST00000420072,;CRYZL1,intron_variant,,ENST00000488167,;CRYZL1,intron_variant,,ENST00000429827,;CRYZL1,intron_variant,,ENST00000490714,;CRYZL1,upstream_gene_variant,,ENST00000452420,;	.	14	29	SUCCESS
SIK1	150094	.	GRCh37	21	44837443	44837443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	18	61	0	ENST00000270162.6:c.1956G>T	p.Glu652Asp	p.E652D	ENST00000270162	NM_173354.3	652	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS33575.1	1956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCTCCAG	NONE	.	.	PIRSF_domain:PIRSF037014,Low_complexity_(Seg):seg	.	.	ENSP00000270162	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000270162	Transcript	.	.	ENSG00000142178	11142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.315)	.	deleterious_low_confidence(0.03)	.	SIK1_HUMAN	SIK1	HGNC	.	.	UPI0000206F2B	SNV	SIK1,missense_variant,p.Glu652Asp,ENST00000270162,;SIK1,downstream_gene_variant,,ENST00000478426,;	2089	61	74	SUCCESS
KRTAP10-12	386685	.	GRCh37	21	46117561	46117561	+	frameshift_variant	Frame_Shift_Ins	INS	C	C	TTG	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	24	0	ENST00000400365.3:c.445delinsTTG	p.Gln149LeufsTer121	p.Q149Lfs*121	ENST00000400365	NM_198699.1	149	Cag/TTGag	0	.	.	.	.	.	TTG	Q/LX	protein_coding	YES	CCDS42967.1	445	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TGTCAACAGTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF8,hmmpanther:PTHR23262	.	.	ENSP00000383216	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400365	Transcript	.	.	ENSG00000189169	20533	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR10C_HUMAN	KRTAP10-12	HGNC	.	.	UPI000021C445	substitution	KRTAP10-12,frameshift_variant,p.Gln149LeufsTer121,ENST00000400365,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-13P,upstream_gene_variant,,ENST00000412914,;	475	24	24	SUCCESS
SMTN	6525	.	GRCh37	22	31484509	31484509	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1436277839	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	17	68	0	ENST00000347557.2:c.211C>T	p.Arg71Trp	p.R71W	ENST00000347557	NM_001207017.1	71	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS13887.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGGGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915,Pfam_domain:PF12510	.	.	ENSP00000351593	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000358743	Transcript	.	.	ENSG00000183963	11126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0.01)	.	SMTN_HUMAN	SMTN	HGNC	C9JP19_HUMAN,C9JGQ0_HUMAN	.	UPI00001B0272	SNV	SMTN,missense_variant,p.Arg125Trp,ENST00000440425,;SMTN,missense_variant,p.Arg125Trp,ENST00000426927,;SMTN,missense_variant,p.Arg126Trp,ENST00000438223,;SMTN,missense_variant,p.Arg71Trp,ENST00000333137,;SMTN,missense_variant,p.Arg71Trp,ENST00000358743,;SMTN,missense_variant,p.Arg71Trp,ENST00000347557,;SMTN,missense_variant,p.Arg63Trp,ENST00000431481,;SMTN,5_prime_UTR_variant,,ENST00000416786,;SMTN,downstream_gene_variant,,ENST00000432777,;SMTN,upstream_gene_variant,,ENST00000455608,;SMTN,upstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000422839,;RP3-412A9.16,upstream_gene_variant,,ENST00000609017,;SMTN,non_coding_transcript_exon_variant,,ENST00000475548,;SMTN,non_coding_transcript_exon_variant,,ENST00000482444,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,upstream_gene_variant,,ENST00000466272,;SMTN,downstream_gene_variant,,ENST00000497697,;SMTN,upstream_gene_variant,,ENST00000493335,;	429	68	94	SUCCESS
FBXO7	25793	.	GRCh37	22	32881139	32881139	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs533307944	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	23	103	0	ENST00000266087.7:c.730G>C	p.Glu244Gln	p.E244Q	ENST00000266087	NM_012179.3	244	Gag/Cag	0	.	C:0	.	C:0	.	C	E/Q	protein_coding	YES	CCDS13907.1	730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGAGGGC	NONE	by1000G	.	hmmpanther:PTHR15537:SF2,hmmpanther:PTHR15537,Pfam_domain:PF11566	C:0	.	ENSP00000266087	C:0	4/9	.	.	.	.	.	.	.	.	rs533307944,COSM1193601,COSM1193602,COSM1193603	4/9	PASS	ENST00000266087	Transcript	.	C:0.0002	ENSG00000100225	13586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.852)	C:0.001	deleterious(0.02)	0,1,1,1	FBX7_HUMAN	FBXO7	HGNC	F8WBR0_HUMAN,A2A282_HUMAN	.	UPI000012A587	SNV	FBXO7,missense_variant,p.Glu244Gln,ENST00000266087,;FBXO7,missense_variant,p.Glu130Gln,ENST00000397426,;FBXO7,missense_variant,p.Glu165Gln,ENST00000382058,;FBXO7,downstream_gene_variant,,ENST00000452138,;FBXO7,downstream_gene_variant,,ENST00000444207,;FBXO7,3_prime_UTR_variant,,ENST00000420700,;FBXO7,3_prime_UTR_variant,,ENST00000425028,;FBXO7,non_coding_transcript_exon_variant,,ENST00000492535,;FBXO7,upstream_gene_variant,,ENST00000484607,;	1057	103	142	SUCCESS
RGPD4-AS1	729121	.	GRCh37	2	108443281	108443281	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs574368169	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	14	0	ENST00000457647.2:n.67C>T		p.*23*	ENST00000457647				0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS46381.1	.	MUTECT|MUSE	.	CCAGCGGAGTG	NONE	byFrequency|by1000G	112	.	A:0	.	ENSP00000386810	A:0	.	.	.	.	.	.	.	.	.	rs574368169	.	PASS	ENST00000408999	Transcript	.	A:0.0060	ENSG00000196862	32417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0297	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,upstream_gene_variant,,ENST00000408999,;RGPD4,upstream_gene_variant,,ENST00000354986,;RGPD4-AS1,non_coding_transcript_exon_variant,,ENST00000593452,;RGPD4-AS1,non_coding_transcript_exon_variant,,ENST00000457647,;RGPD4-AS1,non_coding_transcript_exon_variant,,ENST00000594764,;RGPD4-AS1,upstream_gene_variant,,ENST00000609972,;RGPD4-AS1,upstream_gene_variant,,ENST00000417284,;GACAT1,downstream_gene_variant,,ENST00000441383,;RGPD4-AS1,upstream_gene_variant,,ENST00000609354,;	.	14	21	SUCCESS
RAB3GAP1	22930	.	GRCh37	2	135878431	135878431	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1310680343	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	24	101	1	ENST00000264158.8:c.691C>T	p.Arg231Ter	p.R231*	ENST00000264158	NM_012233.2	231	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS54402.1	691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATTCGATTT	BUFFER|p.R231Q|c.692G>A|3	.	.	hmmpanther:PTHR21422	.	.	ENSP00000411418	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000442034	Transcript	.	.	ENSG00000115839	17063	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RAB3GAP1	HGNC	C9J837_HUMAN	.	UPI0000D4C196	SNV	RAB3GAP1,stop_gained,p.Arg231Ter,ENST00000442034,;RAB3GAP1,stop_gained,p.Arg187Ter,ENST00000539493,;RAB3GAP1,stop_gained,p.Arg231Ter,ENST00000264158,;RAB3GAP1,non_coding_transcript_exon_variant,,ENST00000487003,;RAB3GAP1,upstream_gene_variant,,ENST00000489858,;	701	102	130	SUCCESS
XIRP2	129446	.	GRCh37	2	168103964	168103964	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	223	47	193	0	ENST00000409195.1:c.6062C>A	p.Ala2021Asp	p.A2021D	ENST00000409195	NM_152381.5	2021	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS42769.1	6062	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCCCCCA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.923)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Ala1799Asp,ENST00000409273,;XIRP2,missense_variant,p.Ala2021Asp,ENST00000409195,;XIRP2,missense_variant,p.Ala2021Asp,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	6151	193	271	SUCCESS
FASTKD2	22868	.	GRCh37	2	207655393	207655393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	51	0	ENST00000236980.6:c.1996G>T	p.Gly666Cys	p.G666C	ENST00000236980	NM_014929.3	666	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS2371.1	1996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGGGTTTT	NONE	.	.	SMART_domains:SM00952,Pfam_domain:PF08373,hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228,PROSITE_profiles:PS51286	.	.	ENSP00000236980	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000236980	Transcript	.	.	ENSG00000118246	29160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FAKD2_HUMAN	FASTKD2	HGNC	C9JPI6_HUMAN	.	UPI0000073E9F	SNV	FASTKD2,missense_variant,p.Gly666Cys,ENST00000402774,;FASTKD2,missense_variant,p.Gly666Cys,ENST00000403094,;FASTKD2,missense_variant,p.Gly666Cys,ENST00000236980,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000471788,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;	2344	51	61	SUCCESS
CXCR2	3579	.	GRCh37	2	218999787	218999787	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	71	179	0	ENST00000318507.2:c.263T>A	p.Leu88Gln	p.L88Q	ENST00000318507	NM_001557.3	88	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS2408.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGAACC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF63,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000319635	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000318507	Transcript	.	.	ENSG00000180871	6027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CXCR2_HUMAN	CXCR2	HGNC	Q53PC4_HUMAN,C9JW47_HUMAN,C9JG19_HUMAN,C9J2F9_HUMAN,C9J1J7_HUMAN	.	UPI000004358A	SNV	CXCR2,missense_variant,p.Leu88Gln,ENST00000318507,;CXCR2,missense_variant,p.Leu88Gln,ENST00000428565,;CXCR2,missense_variant,p.Leu88Gln,ENST00000415392,;CXCR2,missense_variant,p.Leu88Gln,ENST00000454148,;CXCR2,missense_variant,p.Leu88Gln,ENST00000453237,;CXCR2,downstream_gene_variant,,ENST00000418878,;CXCR2,downstream_gene_variant,,ENST00000449014,;	690	179	176	SUCCESS
SH3YL1	26751	.	GRCh37	2	234273	234273	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs889770485	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	16	58	0	ENST00000356150.5:c.292-1G>A		p.X98_splice	ENST00000356150	NM_015677.2	98		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42646.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACCTAAAG	NONE	.	.	.	.	.	ENSP00000348471	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356150	Transcript	.	.	ENSG00000035115	29546	.	.	HIGH	4/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3Y1_HUMAN	SH3YL1	HGNC	C9J4Z8_HUMAN	.	UPI0000072FAE	SNV	SH3YL1,splice_acceptor_variant,,ENST00000451005,;SH3YL1,splice_acceptor_variant,,ENST00000454318,;SH3YL1,splice_acceptor_variant,,ENST00000403657,;SH3YL1,splice_acceptor_variant,,ENST00000415006,;SH3YL1,splice_acceptor_variant,,ENST00000405430,;SH3YL1,splice_acceptor_variant,,ENST00000356150,;SH3YL1,splice_acceptor_variant,,ENST00000431160,;SH3YL1,splice_acceptor_variant,,ENST00000403712,;SH3YL1,splice_acceptor_variant,,ENST00000403658,;SH3YL1,upstream_gene_variant,,ENST00000481932,;SH3YL1,splice_acceptor_variant,,ENST00000488044,;SH3YL1,splice_acceptor_variant,,ENST00000468321,;SH3YL1,splice_acceptor_variant,,ENST00000475027,;SH3YL1,splice_acceptor_variant,,ENST00000463865,;SH3YL1,splice_acceptor_variant,,ENST00000473104,;SH3YL1,splice_acceptor_variant,,ENST00000488979,;SH3YL1,upstream_gene_variant,,ENST00000472012,;SH3YL1,splice_acceptor_variant,,ENST00000479739,;SH3YL1,splice_acceptor_variant,,ENST00000471948,;SH3YL1,splice_acceptor_variant,,ENST00000497051,;	.	58	80	SUCCESS
SMYD1	150572	.	GRCh37	2	88396229	88396229	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	19	124	0	ENST00000419482.2:c.814T>A	p.Phe272Ile	p.F272I	ENST00000419482	NM_198274.3	272	Ttt/Att	0	.	.	.	.	.	A	F/I	protein_coding	YES	CCDS33240.1	814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTACTTTGAC	NONE	.	.	hmmpanther:PTHR12197:SF16,hmmpanther:PTHR12197,Gene3D:2.170.270.10	.	.	ENSP00000393453	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000419482	Transcript	.	.	ENSG00000115593	20986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	SMYD1_HUMAN	SMYD1	HGNC	Q5GJ33_HUMAN	.	UPI000006EB68	SNV	SMYD1,missense_variant,p.Phe259Ile,ENST00000444564,;SMYD1,missense_variant,p.Phe272Ile,ENST00000419482,;SMYD1,intron_variant,,ENST00000438570,;	899	124	112	SUCCESS
CCDC80	151887	.	GRCh37	3	112357309	112357309	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	61	0	ENST00000206423.3:c.1444C>T	p.Pro482Ser	p.P482S	ENST00000206423	NM_199512.1	482	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS2968.1	1444	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGCACCA	NONE	.	.	hmmpanther:PTHR19325,Low_complexity_(Seg):seg	.	.	ENSP00000206423	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000206423	Transcript	.	.	ENSG00000091986	30649	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.386)	.	tolerated(0.09)	.	CCD80_HUMAN	CCDC80	HGNC	.	.	UPI000004EE7F	SNV	CCDC80,missense_variant,p.Pro482Ser,ENST00000206423,;CCDC80,missense_variant,p.Pro482Ser,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000473959,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000480275,;	2398	61	57	SUCCESS
GRK7	131890	.	GRCh37	3	141535712	141535712	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	91	0	ENST00000264952.2:c.1482G>T	p.Gly494=	p.G494=	ENST00000264952	NM_139209.2	494	ggG/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3120.1	1482	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGGTGGA	NONE	.	.	PROSITE_profiles:PS51285,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,SMART_domains:SM00133,Superfamily_domains:SSF56112,Prints_domain:PR00717	.	.	ENSP00000264952	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000264952	Transcript	.	.	ENSG00000114124	17031	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRK7_HUMAN	GRK7	HGNC	.	.	UPI000004244D	SNV	GRK7,synonymous_variant,p.%3D,ENST00000264952,;	1619	91	94	SUCCESS
NLGN1	22871	.	GRCh37	3	173996849	173996849	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	42	143	1	ENST00000457714.1:c.1058A>T	p.His353Leu	p.H353L	ENST00000457714	NM_014932.3	353	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS3222.1	1058	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCACATAG	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.12)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.His393Leu,ENST00000401917,;NLGN1,missense_variant,p.His353Leu,ENST00000457714,;NLGN1,missense_variant,p.His353Leu,ENST00000361589,;NLGN1,missense_variant,p.His353Leu,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000469564,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000490929,;NLGN1,downstream_gene_variant,,ENST00000469727,;	1487	144	172	SUCCESS
CYP8B1	1582	.	GRCh37	3	42916188	42916188	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	15	114	0	ENST00000316161.4:c.1121A>G	p.Tyr374Cys	p.Y374C	ENST00000316161	NM_004391.2	374	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS2707.1	1121	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATACTCC	NONE	.	.	Prints_domain:PR00465,Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	.	.	ENSP00000318867	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316161	Transcript	.	.	ENSG00000180432	2653	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.194)	.	deleterious(0.02)	.	CP8B1_HUMAN	CYP8B1	HGNC	.	.	UPI000013FCE2	SNV	CYP8B1,missense_variant,p.Tyr374Cys,ENST00000437102,;CYP8B1,missense_variant,p.Tyr374Cys,ENST00000316161,;KRBOX1,intron_variant,,ENST00000426937,;KRBOX1,intron_variant,,ENST00000451200,;ACKR2,intron_variant,,ENST00000460855,;RP11-141M3.5,intron_variant,,ENST00000471537,;RP11-141M3.5,intron_variant,,ENST00000487368,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;	1446	114	136	SUCCESS
CENPE	1062	.	GRCh37	4	104084644	104084644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	73	301	0	ENST00000265148.3:c.1714G>T	p.Asp572Tyr	p.D572Y	ENST00000265148	NM_001813.2	572	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34042.1	1714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATCTTGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	17/49	.	.	.	.	.	.	.	.	.	17/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Asp572Tyr,ENST00000503705,;CENPE,missense_variant,p.Asp572Tyr,ENST00000265148,;CENPE,intron_variant,,ENST00000380026,;	1804	301	305	SUCCESS
BBS12	166379	.	GRCh37	4	123664496	123664496	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	101	0	ENST00000314218.3:c.1449T>C	p.Asp483=	p.D483=	ENST00000314218	NM_152618.2	483	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3728.1	1449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGATAGGAA	NONE	.	.	hmmpanther:PTHR11353:SF30,hmmpanther:PTHR11353,Pfam_domain:PF00118	.	.	ENSP00000438273	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000542236	Transcript	1	.	ENSG00000181004	26648	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS12_HUMAN	BBS12	HGNC	C9J8H7_HUMAN	.	UPI0000231CAC	SNV	BBS12,synonymous_variant,p.%3D,ENST00000542236,;BBS12,synonymous_variant,p.%3D,ENST00000314218,;BBS12,downstream_gene_variant,,ENST00000433287,;	1830	101	50	SUCCESS
MED28	80306	.	GRCh37	4	17625401	17625401	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	55	247	0	ENST00000237380.7:c.517G>T	p.Ala173Ser	p.A173S	ENST00000237380	NM_025205.3	173	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33963.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGCACCT	NONE	.	.	hmmpanther:PTHR13512,hmmpanther:PTHR13512:SF2,Pfam_domain:PF11594	.	.	ENSP00000237380	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000237380	Transcript	.	.	ENSG00000118579	24628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	MED28_HUMAN	MED28	HGNC	.	.	UPI000006DB49	SNV	MED28,missense_variant,p.Ala173Ser,ENST00000237380,;MED28,missense_variant,p.Ala170Ser,ENST00000503945,;MED28,downstream_gene_variant,,ENST00000506409,;	541	247	161	SUCCESS
KIAA1211	0	.	GRCh37	4	57179476	57179476	+	synonymous_variant	Silent	SNP	C	C	A	rs372203605	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	77	0	ENST00000504228.1:c.468C>A	p.Ala156=	p.A156=	ENST00000504228		156	gcC/gcA	0	A:0.0002	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS43230.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCGCCAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350,Pfam_domain:PF15262	A:0	A:0	ENSP00000423366	A:0	5/9	.	.	.	.	.	.	.	.	rs372203605	5/9	PASS	ENST00000504228	Transcript	.	A:0.0002	ENSG00000109265	29219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,synonymous_variant,p.%3D,ENST00000504228,;KIAA1211,synonymous_variant,p.%3D,ENST00000264229,;KIAA1211,synonymous_variant,p.%3D,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	573	77	66	SUCCESS
AASDH	132949	.	GRCh37	4	57219583	57219583	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	96	0	ENST00000205214.6:c.1563A>G	p.Pro521=	p.P521=	ENST00000205214	NM_181806.2	521	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS3504.1	1563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAATGGTAG	NONE	.	.	Superfamily_domains:SSF56801,Gene3D:3.30.300.30,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	.	.	ENSP00000205214	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000205214	Transcript	.	.	ENSG00000157426	23993	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSF4_HUMAN	AASDH	HGNC	G3V0G4_HUMAN	.	UPI000020B8EF	SNV	AASDH,synonymous_variant,p.%3D,ENST00000451613,;AASDH,synonymous_variant,p.%3D,ENST00000205214,;AASDH,synonymous_variant,p.%3D,ENST00000502617,;AASDH,synonymous_variant,p.%3D,ENST00000513376,;AASDH,synonymous_variant,p.%3D,ENST00000434343,;AASDH,synonymous_variant,p.%3D,ENST00000602986,;AASDH,downstream_gene_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,3_prime_UTR_variant,,ENST00000514745,;RPL7AP31,upstream_gene_variant,,ENST00000470544,;	1744	96	60	SUCCESS
RUFY3	22902	.	GRCh37	4	71656987	71656987	+	synonymous_variant	Silent	SNP	A	A	T	rs1387661677	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	366	101	528	0	ENST00000226328.4:c.1383A>T	p.Ala461=	p.A461=	ENST00000226328	NM_014961.3	461	gcA/gcT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34001.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCAAATAA	NONE	.	.	.	.	.	ENSP00000370394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381006	Transcript	.	.	ENSG00000018189	30285	.	.	MODIFIER	12/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUFY3_HUMAN	RUFY3	HGNC	D6REM9_HUMAN,D6RCQ1_HUMAN	.	UPI00005FB126	SNV	RUFY3,synonymous_variant,p.%3D,ENST00000226328,;RUFY3,synonymous_variant,p.%3D,ENST00000536664,;RUFY3,intron_variant,,ENST00000502653,;RUFY3,intron_variant,,ENST00000381006,;RUFY3,downstream_gene_variant,,ENST00000417478,;RUFY3,upstream_gene_variant,,ENST00000507333,;RUFY3,intron_variant,,ENST00000512103,;RUFY3,intron_variant,,ENST00000504805,;RUFY3,upstream_gene_variant,,ENST00000503025,;	.	528	467	SUCCESS
SH3TC2	79628	.	GRCh37	5	148388485	148388485	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	59	123	0	ENST00000515425.1:c.3407A>T	p.Gln1136Leu	p.Q1136L	ENST00000515425	NM_024577.3	1136	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS4293.1	3407	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCTGCAGC	NONE	.	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.058)	.	tolerated(1)	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,missense_variant,p.Gln1136Leu,ENST00000515425,;SH3TC2,missense_variant,p.Gln683Leu,ENST00000538184,;SH3TC2,missense_variant,p.Gln1129Leu,ENST00000512049,;SH3TC2,upstream_gene_variant,,ENST00000502274,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000515229,;SH3TC2,upstream_gene_variant,,ENST00000510350,;SH3TC2,missense_variant,p.Gln1136Leu,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	3509	123	144	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159776435	159776435	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs752487351	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	66	0	ENST00000393975.3:c.733G>A	p.Asp245Asn	p.D245N	ENST00000393975	NM_031908.4	245	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4351.2	733	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCGTAGG	NONE	byFrequency	.	Prints_domain:PR00007,Superfamily_domains:SSF49842,SMART_domains:SM00110,Pfam_domain:PF00386,Gene3D:2.60.120.40,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF8,PROSITE_profiles:PS50871	.	.	ENSP00000377545	.	3/3	.	.	.	.	.	.	.	.	rs752487351,COSM3247458	3/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.991)	.	tolerated(0.08)	0,1	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,missense_variant,p.Asp245Asn,ENST00000393975,;CCNJL,upstream_gene_variant,,ENST00000521643,;	737	66	75	SUCCESS
FGF18	8817	.	GRCh37	5	170876191	170876191	+	synonymous_variant	Silent	SNP	C	C	T	rs774406179	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	21	139	0	ENST00000274625.5:c.291C>T	p.Val97=	p.V97=	ENST00000274625	NM_003862.2	97	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4378.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTCCGGAT	NONE	.	.	hmmpanther:PTHR11486:SF4,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00262	.	.	ENSP00000274625	.	4/5	.	.	.	.	.	.	.	.	rs774406179	4/5	PASS	ENST00000274625	Transcript	.	.	ENSG00000156427	3674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF18_HUMAN	FGF18	HGNC	.	.	UPI000003C116	SNV	FGF18,synonymous_variant,p.%3D,ENST00000274625,;	835	139	122	SUCCESS
PDZD2	23037	.	GRCh37	5	31799209	31799209	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	10	0	ENST00000438447.1:c.-147T>A		p.*49*	ENST00000438447				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34137.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGAGTAGGTG	NONE	.	.	.	.	.	ENSP00000402033	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,5_prime_UTR_variant,,ENST00000438447,;PDZD2,5_prime_UTR_variant,,ENST00000282493,;PDZD2,5_prime_UTR_variant,,ENST00000513910,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502824,;	242	10	26	SUCCESS
RIOK2	55781	.	GRCh37	5	96503531	96503531	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	102	0	ENST00000283109.3:c.1037A>G	p.Glu346Gly	p.E346G	ENST00000283109	NM_018343.2	346	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS4089.1	1037	RADIA|MUTECT|MUSE	.	AAACCTCTGCT	NONE	.	.	hmmpanther:PTHR10593:SF1,hmmpanther:PTHR10593	.	.	ENSP00000283109	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000283109	Transcript	.	.	ENSG00000058729	18999	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.14)	.	RIOK2_HUMAN	RIOK2	HGNC	.	.	UPI000013DD20	SNV	RIOK2,missense_variant,p.Glu346Gly,ENST00000508447,;RIOK2,missense_variant,p.Glu346Gly,ENST00000283109,;CTD-2215E18.1,intron_variant,,ENST00000509481,;RIOK2,upstream_gene_variant,,ENST00000511012,;RIOK2,upstream_gene_variant,,ENST00000511293,;	1106	102	84	SUCCESS
NCOA7	135112	.	GRCh37	6	126196071	126196071	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	27	118	0	ENST00000368357.3:c.308A>C	p.Lys103Thr	p.K103T	ENST00000368357	NM_001199619.1	103	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS5132.1	308	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAGAAGA	NONE	.	.	hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354	.	.	ENSP00000357341	.	5/17	.	.	.	.	.	.	.	.	.	5/17	PASS	ENST00000368357	Transcript	.	.	ENSG00000111912	21081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NCOA7_HUMAN	NCOA7	HGNC	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN	.	UPI00001AE66D	SNV	NCOA7,missense_variant,p.Lys103Thr,ENST00000392477,;NCOA7,missense_variant,p.Lys103Thr,ENST00000368357,;NCOA7,missense_variant,p.Lys103Thr,ENST00000419660,;NCOA7,missense_variant,p.Lys103Thr,ENST00000417494,;NCOA7,5_prime_UTR_variant,,ENST00000229634,;RN7SKP56,upstream_gene_variant,,ENST00000410513,;	660	118	110	SUCCESS
THEMIS	387357	.	GRCh37	6	128134892	128134892	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	21	111	0	ENST00000368248.2:c.894A>T	p.Gln298His	p.Q298H	ENST00000368248	NM_001010923.2	298	caA/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS55056.1	894	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCTTTGGGG	NONE	.	.	hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1,Pfam_domain:PF12736	.	.	ENSP00000439594	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000543064	Transcript	.	.	ENSG00000172673	21569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.318)	.	tolerated(0.54)	.	.	THEMIS	HGNC	F5H1J9_HUMAN	.	UPI0001B3CB2F	SNV	THEMIS,missense_variant,p.Gln219His,ENST00000368250,;THEMIS,missense_variant,p.Gln298His,ENST00000368248,;THEMIS,missense_variant,p.Gln298His,ENST00000543064,;THEMIS,missense_variant,p.Gln66His,ENST00000434358,;THEMIS,missense_variant,p.Gln263His,ENST00000537166,;	1043	111	95	SUCCESS
BMP5	653	.	GRCh37	6	55620351	55620351	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752442881	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	272	136	312	0	ENST00000370830.3:c.1345C>T	p.Arg449Cys	p.R449C	ENST00000370830	NM_021073.2	449	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS4958.1	1345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGTACTA	SITE|p.R449C|c.1345C>T|4	.	.	PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501	.	.	ENSP00000359866	.	7/7	.	.	.	.	.	.	.	.	COSM1246151	7/7	PASS	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.977)	.	deleterious(0)	1	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,missense_variant,p.Arg449Cys,ENST00000370830,;BMP5,missense_variant,p.Arg412Cys,ENST00000446683,;	2044	313	409	SUCCESS
EYS	346007	.	GRCh37	6	65707540	65707540	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs794727120	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	466	48	223	0	ENST00000370616.2:c.2194C>T	p.Gln732Ter	p.Q732*	ENST00000370616		732	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS47445.1	2194	RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGTTCAC	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,Gene3D:2gy5A03	.	.	ENSP00000424243	.	14/43	.	.	.	.	.	.	.	.	.	14/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,stop_gained,p.Gln732Ter,ENST00000370616,;EYS,stop_gained,p.Gln732Ter,ENST00000370621,;EYS,stop_gained,p.Gln732Ter,ENST00000503581,;	2732	223	514	SUCCESS
CAGE1	285782	.	GRCh37	6	7334305	7334305	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	45	0	ENST00000512086.1:c.2202A>T	p.Lys734Asn	p.K734N	ENST00000512086		734	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS54965.1	2388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGTTTATT	NONE	.	.	.	.	.	ENSP00000425493	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000502583	Transcript	.	.	ENSG00000164304	21622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	CAGE1_HUMAN	CAGE1	HGNC	.	.	UPI0001C0B380	SNV	CAGE1,missense_variant,p.Lys734Asn,ENST00000512086,;CAGE1,missense_variant,p.Lys796Asn,ENST00000502583,;CAGE1,missense_variant,p.Lys774Asn,ENST00000379918,;CAGE1,missense_variant,p.Lys761Asn,ENST00000338150,;CAGE1,missense_variant,p.Lys598Asn,ENST00000296742,;SSR1,non_coding_transcript_exon_variant,,ENST00000488834,;CAGE1,3_prime_UTR_variant,,ENST00000442019,;CAGE1,3_prime_UTR_variant,,ENST00000458291,;RP11-69L16.3,upstream_gene_variant,,ENST00000404326,;RP11-69L16.5,downstream_gene_variant,,ENST00000407940,;	2953	45	67	SUCCESS
CASP8AP2	9994	.	GRCh37	6	90573432	90573432	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	87	0	ENST00000551025.1:n.3441G>T		p.*1147*	ENST00000551025				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATGCATTG	NONE	.	.	.	.	.	.	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000551025	Transcript	.	.	ENSG00000118412	1510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CASP8AP2	HGNC	.	.	.	SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,intron_variant,,ENST00000548224,;CASP8AP2,downstream_gene_variant,,ENST00000444163,;CASP8AP2,downstream_gene_variant,,ENST00000419040,;CASP8AP2,downstream_gene_variant,,ENST00000552401,;	3441	87	84	SUCCESS
OSBPL3	26031	.	GRCh37	7	24881964	24881964	+	synonymous_variant	Silent	SNP	A	A	T	.	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	52	132	2	ENST00000313367.2:c.1335T>A	p.Thr445=	p.T445=	ENST00000313367	NM_015550.2	445	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS5390.1	1335	RADIA|SOMATICSNIPER|VARSCANS	.	GAGTCAGTGAT	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15	.	.	ENSP00000315410	.	13/23	.	.	.	.	.	.	.	.	COSM1496630	13/23	PASS	ENST00000313367	Transcript	.	.	ENSG00000070882	16370	.	.	LOW	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	OSBL3_HUMAN	OSBPL3	HGNC	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN	.	UPI0000001244	SNV	OSBPL3,synonymous_variant,p.%3D,ENST00000431825,;OSBPL3,synonymous_variant,p.%3D,ENST00000396429,;OSBPL3,synonymous_variant,p.%3D,ENST00000352860,;OSBPL3,synonymous_variant,p.%3D,ENST00000409069,;OSBPL3,synonymous_variant,p.%3D,ENST00000353930,;OSBPL3,synonymous_variant,p.%3D,ENST00000313367,;OSBPL3,synonymous_variant,p.%3D,ENST00000396431,;OSBPL3,synonymous_variant,p.%3D,ENST00000409555,;OSBPL3,synonymous_variant,p.%3D,ENST00000409452,;OSBPL3,synonymous_variant,p.%3D,ENST00000409863,;OSBPL3,synonymous_variant,p.%3D,ENST00000409759,;OSBPL3,downstream_gene_variant,,ENST00000461835,;	1787	134	170	SUCCESS
SRCRB4D	0	.	GRCh37	7	76023205	76023205	+	synonymous_variant	Silent	SNP	G	G	C	rs1188070524	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	30	101	0	ENST00000275560.3:c.963C>G	p.Pro321=	p.P321=	ENST00000275560	NM_080744.1	321	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5585.1	963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGGGCC	NONE	.	.	hmmpanther:PTHR19331:SF258,hmmpanther:PTHR19331	.	.	ENSP00000275560	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000275560	Transcript	.	.	ENSG00000146700	14461	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRB4D_HUMAN	SRCRB4D	HGNC	.	.	UPI000006D197	SNV	SRCRB4D,synonymous_variant,p.%3D,ENST00000275560,;ZP3,upstream_gene_variant,,ENST00000336517,;SRCRB4D,upstream_gene_variant,,ENST00000492979,;	1311	101	167	SUCCESS
RIMS2	9699	.	GRCh37	8	104927768	104927768	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	73	76	1	ENST00000406091.3:c.1858A>G	p.Ile620Val	p.I620V	ENST00000406091	NM_001100117.2	620	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS55269.1	1858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTATTACT	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000384892	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000406091	Transcript	.	.	ENSG00000176406	17283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,missense_variant,p.Ile428Val,ENST00000408894,;RIMS2,missense_variant,p.Ile620Val,ENST00000504942,;RIMS2,missense_variant,p.Ile428Val,ENST00000507740,;RIMS2,missense_variant,p.Ile398Val,ENST00000436393,;RIMS2,missense_variant,p.Ile620Val,ENST00000406091,;RIMS2,missense_variant,p.Ile428Val,ENST00000515551,;RIMS2,missense_variant,p.Ile475Val,ENST00000262231,;RIMS2,non_coding_transcript_exon_variant,,ENST00000501515,;RIMS2,non_coding_transcript_exon_variant,,ENST00000507677,;RIMS2,non_coding_transcript_exon_variant,,ENST00000511046,;RIMS2,non_coding_transcript_exon_variant,,ENST00000512598,;	1858	77	137	SUCCESS
TCEA1	6917	.	GRCh37	8	54882968	54882968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	311	49	212	0	ENST00000521604.2:c.881G>A	p.Cys294Tyr	p.C294Y	ENST00000521604	NM_006756.2	294	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS47858.1	881	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACATTCA	NONE	.	.	PROSITE_profiles:PS51133,hmmpanther:PTHR11477:SF1,hmmpanther:PTHR11477,PROSITE_patterns:PS00466,Gene3D:2.20.25.10,Pfam_domain:PF01096,TIGRFAM_domain:TIGR01385,PIRSF_domain:PIRSF006704,SMART_domains:SM00440,Superfamily_domains:SSF57783	.	.	ENSP00000428426	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000521604	Transcript	.	.	ENSG00000187735	11612	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TCEA1_HUMAN	TCEA1	HGNC	.	.	UPI0000136ABE	SNV	TCEA1,missense_variant,p.Cys110Tyr,ENST00000522635,;TCEA1,missense_variant,p.Cys294Tyr,ENST00000521604,;TCEA1,missense_variant,p.Cys273Tyr,ENST00000396401,;TCEA1,non_coding_transcript_exon_variant,,ENST00000521086,;TCEA1,non_coding_transcript_exon_variant,,ENST00000522397,;RP11-30L15.4,upstream_gene_variant,,ENST00000523153,;	1285	212	360	SUCCESS
RP1	6101	.	GRCh37	8	55534080	55534080	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	98	127	1	ENST00000220676.1:c.554A>T	p.Gln185Leu	p.Q185L	ENST00000220676	NM_006269.1	185	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6160.1	554	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAGCACC	NONE	.	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Pfam_domain:PF03607,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309	.	.	ENSP00000220676	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	deleterious(0.01)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Gln185Leu,ENST00000220676,;	702	128	183	SUCCESS
SLC26A7	115111	.	GRCh37	8	92330525	92330525	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	19	64	0	ENST00000276609.3:c.559G>T	p.Ala187Ser	p.A187S	ENST00000276609	NM_052832.2	187	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS6255.1	559	MUTECT|MUSE|VARSCANS	.	GGGCTGCCACC	NONE	.	.	hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF00916	.	.	ENSP00000309504	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,missense_variant,p.Ala55Ser,ENST00000520818,;SLC26A7,missense_variant,p.Ala187Ser,ENST00000276609,;SLC26A7,missense_variant,p.Ala187Ser,ENST00000309536,;SLC26A7,missense_variant,p.Ala187Ser,ENST00000522862,;SLC26A7,missense_variant,p.Ala187Ser,ENST00000523719,;SLC26A7,missense_variant,p.Ala187Ser,ENST00000522181,;	779	64	152	SUCCESS
PTGS1	5742	.	GRCh37	9	125141054	125141054	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	108	0	ENST00000362012.2:c.353T>G	p.Val118Gly	p.V118G	ENST00000362012	NM_000962.3	118	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS6842.1	353	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTGCGCT	NONE	.	.	PROSITE_profiles:PS50292,hmmpanther:PTHR11903:SF6,hmmpanther:PTHR11903,Gene3D:1.10.640.10,Superfamily_domains:SSF48113	.	.	ENSP00000354612	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000362012	Transcript	.	.	ENSG00000095303	9604	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated(0.14)	.	PGH1_HUMAN	PTGS1	HGNC	.	.	UPI0000161DAC	SNV	PTGS1,missense_variant,p.Val118Gly,ENST00000362012,;PTGS1,missense_variant,p.Val9Gly,ENST00000373698,;PTGS1,missense_variant,p.Val118Gly,ENST00000223423,;PTGS1,missense_variant,p.Val76Gly,ENST00000426608,;PTGS1,missense_variant,p.Val93Gly,ENST00000540753,;	358	108	98	SUCCESS
GLE1	2733	.	GRCh37	9	131296078	131296078	+	synonymous_variant	Silent	SNP	A	A	T	rs369775688	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	43	124	0	ENST00000309971.4:c.1494A>T	p.Ala498=	p.A498=	ENST00000309971	NM_001003722.1	498	gcA/gcT	0	G:0	.	.	.	.	T	A	protein_coding	YES	CCDS35154.1	1494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCAGCATT	NONE	byCluster	.	hmmpanther:PTHR12960:SF0,hmmpanther:PTHR12960,Pfam_domain:PF07817	.	G:0.0001	ENSP00000308622	.	11/16	.	.	.	.	.	.	.	.	rs369775688	11/16	PASS	ENST00000309971	Transcript	.	.	ENSG00000119392	4315	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLE1_HUMAN	GLE1	HGNC	B3KMG0_HUMAN	.	UPI000013EF77	SNV	GLE1,synonymous_variant,p.%3D,ENST00000372770,;GLE1,synonymous_variant,p.%3D,ENST00000309971,;GLE1,synonymous_variant,p.%3D,ENST00000539582,;RP11-216B9.6,intron_variant,,ENST00000434999,;GLE1,downstream_gene_variant,,ENST00000494417,;	1600	124	109	SUCCESS
TPRN	286262	.	GRCh37	9	140086995	140086995	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1386556020	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	57	0	ENST00000409012.4:c.1874C>T	p.Ser625Leu	p.S625L	ENST00000409012	NM_001128228.2	625	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS56594.1	1874	MUTECT|MUSE|VARSCANS	.	CCTCTGAGCCG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21685:SF1,hmmpanther:PTHR21685	.	.	ENSP00000387100	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000409012	Transcript	.	.	ENSG00000176058	26894	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.088)	.	tolerated(0.15)	.	TPRN_HUMAN	TPRN	HGNC	Q86WR5_HUMAN	.	UPI0001722188	SNV	TPRN,missense_variant,p.Ser625Leu,ENST00000409012,;TPRN,missense_variant,p.Ser564Leu,ENST00000321773,;TPRN,missense_variant,p.Ser423Leu,ENST00000333046,;ANAPC2,upstream_gene_variant,,ENST00000323927,;SSNA1,downstream_gene_variant,,ENST00000322310,;SSNA1,downstream_gene_variant,,ENST00000464553,;SSNA1,downstream_gene_variant,,ENST00000459860,;TPRN,downstream_gene_variant,,ENST00000541945,;SSNA1,downstream_gene_variant,,ENST00000463511,;TPRN,non_coding_transcript_exon_variant,,ENST00000477345,;	1961	57	53	SUCCESS
TMEM8B	51754	.	GRCh37	9	35841726	35841726	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	16	65	0	ENST00000377988.2:c.-113G>A		p.*38*	ENST00000377988	NM_001042590.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43800.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGTGCGTGTGG	NONE	.	.	.	.	.	ENSP00000367227	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000377988	Transcript	.	.	ENSG00000137103	21427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMM8B_HUMAN	TMEM8B	HGNC	.	.	UPI00002113B9	SNV	TMEM8B,5_prime_UTR_variant,,ENST00000377996,;TMEM8B,5_prime_UTR_variant,,ENST00000439587,;TMEM8B,5_prime_UTR_variant,,ENST00000377988,;TMEM8B,5_prime_UTR_variant,,ENST00000377991,;TMEM8B,non_coding_transcript_exon_variant,,ENST00000464519,;TMEM8B,intron_variant,,ENST00000490199,;TMEM8B,intron_variant,,ENST00000473947,;TMEM8B,downstream_gene_variant,,ENST00000472010,;	1176	65	69	SUCCESS
RMI1	80010	.	GRCh37	9	86616085	86616085	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	33	134	0	ENST00000325875.3:c.184A>T	p.Arg62Trp	p.R62W	ENST00000325875	NM_024945.2	62	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS6669.1	184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGAGGGAT	NONE	.	.	Pfam_domain:PF08585,hmmpanther:PTHR14790:SF15,hmmpanther:PTHR14790	.	.	ENSP00000317039	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325875	Transcript	.	.	ENSG00000178966	25764	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	RMI1_HUMAN	RMI1	HGNC	.	.	UPI000014178F	SNV	RMI1,missense_variant,p.Arg62Trp,ENST00000445877,;RMI1,missense_variant,p.Arg62Trp,ENST00000325875,;	516	134	114	SUCCESS
USP9X	8239	.	GRCh37	X	41069765	41069765	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	52	99	0	ENST00000324545.8:c.5019T>A	p.Leu1673=	p.L1673=	ENST00000324545	NM_001039590.2	1673	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43930.1	5019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTTTGGGG	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235	.	.	ENSP00000316357	.	33/45	.	.	.	.	.	.	.	.	.	33/45	PASS	ENST00000324545	Transcript	.	.	ENSG00000124486	12632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USP9X_HUMAN	USP9X	HGNC	.	.	UPI00001AF419	SNV	USP9X,synonymous_variant,p.%3D,ENST00000378308,;USP9X,synonymous_variant,p.%3D,ENST00000324545,;USP9X,non_coding_transcript_exon_variant,,ENST00000487625,;	5652	99	168	SUCCESS
PABPC5	140886	.	GRCh37	X	90691012	90691012	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	72	70	0	ENST00000312600.3:c.436G>T	p.Gly146Cys	p.G146C	ENST00000312600	NM_080832.2	146	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS14460.1	436	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAGGGTTAT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF241,hmmpanther:PTHR24011,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01628,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	COSM1469835	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0.01)	1	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,missense_variant,p.Gly146Cys,ENST00000312600,;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	650	70	105	SUCCESS
TCERG1L	256536	.	GRCh37	10	133058601	133058601	+	synonymous_variant	Silent	SNP	C	C	T	rs751877949	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	25	0	ENST00000368642.4:c.777G>A	p.Pro259=	p.P259=	ENST00000368642	NM_174937.3	259	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS7662.2	777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACGGGCC	NONE	byFrequency	.	hmmpanther:PTHR15377:SF5,hmmpanther:PTHR15377	.	.	ENSP00000357631	.	4/12	.	.	.	.	.	.	.	.	rs751877949,COSM1346825	4/12	PASS	ENST00000368642	Transcript	.	.	ENSG00000176769	23533	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	TCRGL_HUMAN	TCERG1L	HGNC	.	.	UPI00004589C8	SNV	TCERG1L,synonymous_variant,p.%3D,ENST00000368642,;TCERG1L,upstream_gene_variant,,ENST00000483040,;	863	25	34	SUCCESS
KNDC1	85442	.	GRCh37	10	134999499	134999499	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756563735	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	34	0	ENST00000304613.3:c.647G>A	p.Arg216Gln	p.R216Q	ENST00000304613		216	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS7674.1	647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGGGAGA	NONE	byFrequency	.	SMART_domains:SM00750,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS51377	.	.	ENSP00000304437	.	6/30	.	.	.	.	.	.	.	.	rs756563735,COSM3670494,COSM3670495	6/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.008)	.	deleterious(0.05)	0,1,1	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Arg151Gln,ENST00000368571,;KNDC1,missense_variant,p.Arg216Gln,ENST00000304613,;KNDC1,missense_variant,p.Arg216Gln,ENST00000368572,;	668	34	62	SUCCESS
VENTX	27287	.	GRCh37	10	135053718	135053718	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	37	0	ENST00000325980.9:c.685C>G	p.Pro229Ala	p.P229A	ENST00000325980	NM_014468.3	229	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS7675.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACCCCCCT	NONE	.	.	hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF24	.	.	ENSP00000357556	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325980	Transcript	.	.	ENSG00000151650	13639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated(0.34)	.	VENTX_HUMAN	VENTX	HGNC	.	.	UPI0000070A25	SNV	VENTX,missense_variant,p.Pro229Ala,ENST00000325980,;	1196	37	36	SUCCESS
KIAA1217	56243	.	GRCh37	10	24832181	24832187	+	frameshift_variant	Frame_Shift_Del	DEL	TCAAGCG	TCAAGCG	-	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	TCAAGCG	TCAAGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	79	35	117	0	ENST00000376454.3:c.3983_3989del	p.Ser1328CysfsTer21	p.S1328Cfs*21	ENST00000376454	NM_019590.3	1328	TCAAGCGtg/tg	0	.	.	.	.	.	-	SSV/X	protein_coding	YES	CCDS31165.1	3982-3988	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGAATCAAGCGTGCAT	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	deletion	KIAA1217,frameshift_variant,p.Ser1328CysfsTer21,ENST00000376454,;KIAA1217,frameshift_variant,p.Ser1011CysfsTer21,ENST00000376451,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,;KIAA1217,intron_variant,,ENST00000396446,;KIAA1217,intron_variant,,ENST00000376452,;KIAA1217,intron_variant,,ENST00000376462,;KIAA1217,intron_variant,,ENST00000458595,;KIAA1217,non_coding_transcript_exon_variant,,ENST00000492009,;	4012-4018	117	114	SUCCESS
RASSF4	83937	.	GRCh37	10	45478109	45478109	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	27	94	0	ENST00000340258.5:c.279T>A		p.X93_splice	ENST00000340258	NM_032023.3	93	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS7208.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTCTGTG	NONE	.	.	hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF4	.	.	ENSP00000339692	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000340258	Transcript	.	.	ENSG00000107551	20793	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF4_HUMAN	RASSF4	HGNC	.	.	UPI000006F93A	SNV	RASSF4,synonymous_variant,p.%3D,ENST00000427758,;RASSF4,synonymous_variant,p.%3D,ENST00000428466,;RASSF4,synonymous_variant,p.%3D,ENST00000334940,;RASSF4,synonymous_variant,p.%3D,ENST00000374417,;RASSF4,synonymous_variant,p.%3D,ENST00000340258,;C10orf10,upstream_gene_variant,,ENST00000448778,;C10orf10,upstream_gene_variant,,ENST00000298295,;RASSF4,splice_region_variant,,ENST00000462822,;RASSF4,splice_region_variant,,ENST00000472561,;C10orf10,upstream_gene_variant,,ENST00000496638,;RASSF4,upstream_gene_variant,,ENST00000471808,;RASSF4,splice_region_variant,,ENST00000483709,;RASSF4,splice_region_variant,,ENST00000465735,;RASSF4,splice_region_variant,,ENST00000489171,;RASSF4,upstream_gene_variant,,ENST00000471941,;	392	94	69	SUCCESS
ZNF488	118738	.	GRCh37	10	48371553	48371554	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	35	0	ENST00000395702.2:c.1021_1022del	p.Ter341AlafsTer59	p.*341Afs*59	ENST00000395702		341	TAg/g	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS7217.1	1021-1022	INDELOCATOR*|VARSCANI*|PINDEL	.	CACAGCTAGCAGG	NONE	.	.	.	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	deletion	ZNF488,frameshift_variant,p.Ter341Ala,ENST00000395702,;ZNF488,frameshift_variant,p.Ter234Ala,ENST00000586537,;ZNF488,3_prime_UTR_variant,,ENST00000494156,;ZNF488,downstream_gene_variant,,ENST00000444585,;ZNF488,downstream_gene_variant,,ENST00000442001,;ZNF488,downstream_gene_variant,,ENST00000433077,;ZNF488,downstream_gene_variant,,ENST00000436850,;ZNF488,downstream_gene_variant,,ENST00000412534,;ZNF488,downstream_gene_variant,,ENST00000425196,;	1248-1249	35	56	SUCCESS
ANK3	288	.	GRCh37	10	61833020	61833020	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756672652	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	43	121	0	ENST00000280772.2:c.7619C>T	p.Thr2540Ile	p.T2540I	ENST00000280772	NM_020987.3	2540	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS7258.1	7619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGTCACT	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	rs756672652	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,missense_variant,p.Thr2540Ile,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	7811	121	106	SUCCESS
TET1	80312	.	GRCh37	10	70450720	70450720	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	80	0	ENST00000373644.4:c.5560A>G	p.Thr1854Ala	p.T1854A	ENST00000373644	NM_030625.2	1854	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS7281.1	5560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAAGACTGCT	NONE	.	.	hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2,Pfam_domain:PF12851	.	.	ENSP00000362748	.	12/12	.	.	.	.	.	.	.	.	COSM1492296	12/12	PASS	ENST00000373644	Transcript	.	.	ENSG00000138336	29484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.026)	.	tolerated(0.39)	1	TET1_HUMAN	TET1	HGNC	.	.	UPI000013D114	SNV	TET1,missense_variant,p.Thr1854Ala,ENST00000373644,;	5769	80	76	SUCCESS
GRIA4	2893	.	GRCh37	11	105795190	105795190	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	19	96	0	ENST00000282499.5:c.1542T>A	p.Ser514=	p.S514=	ENST00000282499	NM_000829.3	514	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS8333.1	1542	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTAAGCC	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000282499	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,synonymous_variant,p.%3D,ENST00000282499,;GRIA4,synonymous_variant,p.%3D,ENST00000530497,;GRIA4,synonymous_variant,p.%3D,ENST00000393127,;GRIA4,synonymous_variant,p.%3D,ENST00000525187,;	1988	96	94	SUCCESS
PCSK7	9159	.	GRCh37	11	117096683	117096683	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	50	0	ENST00000320934.3:c.824A>G	p.Asn275Ser	p.N275S	ENST00000320934	NM_004716.2	275	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS8382.1	824	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGTTGAAC	NONE	.	.	hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743	.	.	ENSP00000325917	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000320934	Transcript	.	.	ENSG00000160613	8748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	tolerated(0.43)	.	PCSK7_HUMAN	PCSK7	HGNC	E9PMC0_HUMAN,E9PLM0_HUMAN,E9PIW7_HUMAN,B3KUH2_HUMAN	.	UPI0000070E4E	SNV	PCSK7,missense_variant,p.Asn275Ser,ENST00000320934,;PCSK7,missense_variant,p.Asn275Ser,ENST00000525027,;PCSK7,downstream_gene_variant,,ENST00000532301,;PCSK7,upstream_gene_variant,,ENST00000540028,;PCSK7,downstream_gene_variant,,ENST00000524507,;PCSK7,downstream_gene_variant,,ENST00000530269,;PCSK7,non_coding_transcript_exon_variant,,ENST00000534529,;PCSK7,upstream_gene_variant,,ENST00000528217,;	1455	50	39	SUCCESS
CBL	867	.	GRCh37	11	119103248	119103248	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147438359	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	76	0	ENST00000264033.4:c.286C>T	p.Arg96Cys	p.R96C	ENST00000264033	NM_005188.3	96	Cgt/Tgt	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS8418.1	286	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCGTACT	NONE	byCluster	.	PROSITE_profiles:PS51506,hmmpanther:PTHR23007:SF5,hmmpanther:PTHR23007,Gene3D:3buxB01,Pfam_domain:PF02262,Superfamily_domains:0045208	.	T:0.0001	ENSP00000264033	.	2/16	.	.	.	.	.	.	.	.	rs147438359	2/16	PASS	ENST00000264033	Transcript	.	.	ENSG00000110395	1541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	CBL_HUMAN	CBL	HGNC	.	.	UPI000013D4A7	SNV	CBL,missense_variant,p.Arg96Cys,ENST00000264033,;	662	76	58	SUCCESS
PIK3C2A	5286	.	GRCh37	11	17153463	17153463	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	158	37	159	0	ENST00000265970.7:c.2231T>C	p.Leu744Pro	p.L744P	ENST00000265970	NM_002645.2	744	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS7824.1	2231	RADIA|MUTECT|MUSE|VARSCANS	.	CTTACAGTTCA	NONE	.	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,SMART_domains:SM00142,Gene3D:2.60.40.150,Pfam_domain:PF00792,hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048,PROSITE_profiles:PS51547	.	.	ENSP00000265970	.	11/32	.	.	.	.	.	.	.	.	.	11/32	PASS	ENST00000265970	Transcript	.	.	ENSG00000011405	8971	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.12)	.	P3C2A_HUMAN	PIK3C2A	HGNC	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN	.	UPI000013D6B3	SNV	PIK3C2A,missense_variant,p.Leu364Pro,ENST00000540361,;PIK3C2A,missense_variant,p.Leu744Pro,ENST00000265970,;PIK3C2A,intron_variant,,ENST00000531428,;	2231	159	195	SUCCESS
NAV2	89797	.	GRCh37	11	20057523	20057523	+	synonymous_variant	Silent	SNP	C	C	A	rs199691877	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	31	104	0	ENST00000396087.3:c.2856C>A	p.Ser952=	p.S952=	ENST00000396087	NM_001244963.1	952	tcC/tcA	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS58126.1	2856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCCGTCAG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	T:0	.	ENSP00000379396	T:0.001	13/41	.	.	.	.	.	.	.	.	rs199691877	13/41	PASS	ENST00000396087	Transcript	.	T:0.0002	ENSG00000166833	15997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,synonymous_variant,p.%3D,ENST00000530408,;NAV2,synonymous_variant,p.%3D,ENST00000360655,;NAV2,synonymous_variant,p.%3D,ENST00000525322,;NAV2,synonymous_variant,p.%3D,ENST00000533917,;NAV2,synonymous_variant,p.%3D,ENST00000527559,;NAV2,synonymous_variant,p.%3D,ENST00000349880,;NAV2,synonymous_variant,p.%3D,ENST00000396087,;NAV2,synonymous_variant,p.%3D,ENST00000396085,;NAV2,synonymous_variant,p.%3D,ENST00000540292,;NAV2,synonymous_variant,p.%3D,ENST00000311043,;NAV2,non_coding_transcript_exon_variant,,ENST00000526675,;NAV2,non_coding_transcript_exon_variant,,ENST00000534299,;	2955	104	89	SUCCESS
C11orf49	79096	.	GRCh37	11	47182742	47182743	+	splice_donor_variant	Splice_Site	INS	-	-	T	rs34737621	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	73	14	92	0	ENST00000278460.7:c.821+2dup		p.X274_splice	ENST00000278460	NM_024113.4	274		0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS31480.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGCTGTAAGT	NONE	byCluster	.	.	.	T:0.0001	ENSP00000367878	.	.	.	.	.	.	.	.	.	.	rs34737621	.	PASS	ENST00000378615	Transcript	.	.	ENSG00000149179	28720	1	.	HIGH	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CK049_HUMAN	C11orf49	HGNC	E9PI28_HUMAN	.	UPI0000070A8D	insertion	C11orf49,splice_donor_variant,,ENST00000536126,;C11orf49,splice_donor_variant,,ENST00000278460,;C11orf49,splice_donor_variant,,ENST00000543718,;C11orf49,splice_donor_variant,,ENST00000378615,;C11orf49,splice_donor_variant,,ENST00000378618,;C11orf49,frameshift_variant,p.Ter275Leu,ENST00000395460,;C11orf49,downstream_gene_variant,,ENST00000526827,;ARFGAP2,downstream_gene_variant,,ENST00000319543,;ARFGAP2,downstream_gene_variant,,ENST00000426335,;ARFGAP2,downstream_gene_variant,,ENST00000524782,;ARFGAP2,downstream_gene_variant,,ENST00000419701,;C11orf49,splice_donor_variant,,ENST00000534581,;C11orf49,non_coding_transcript_exon_variant,,ENST00000527234,;ARFGAP2,downstream_gene_variant,,ENST00000395449,;C11orf49,downstream_gene_variant,,ENST00000525953,;C11orf49,downstream_gene_variant,,ENST00000527268,;C11orf49,splice_donor_variant,,ENST00000525895,;C11orf49,splice_donor_variant,,ENST00000527784,;C11orf49,splice_donor_variant,,ENST00000528488,;ARFGAP2,downstream_gene_variant,,ENST00000533243,;C11orf49,downstream_gene_variant,,ENST00000534249,;	.	92	87	SUCCESS
PC	5091	.	GRCh37	11	66639215	66639215	+	synonymous_variant	Silent	SNP	G	G	A	rs757830976	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	34	0	ENST00000393955.2:c.264C>T	p.Arg88=	p.R88=	ENST00000393955	NM_022172.2	88	cgC/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8152.1	264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCGGCC	NONE	.	.	Superfamily_domains:SSF52440,PIRSF_domain:PIRSF001594,TIGRFAM_domain:TIGR01235,Pfam_domain:PF00289,Gene3D:3.40.50.20,hmmpanther:PTHR18866,PROSITE_profiles:PS50979	.	.	ENSP00000377532	.	5/23	.	.	.	.	.	.	.	.	rs757830976	5/23	PASS	ENST00000393960	Transcript	.	.	ENSG00000173599	8636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYC_HUMAN	PC	HGNC	E9PS68_HUMAN	.	UPI0000132BC4	SNV	PC,synonymous_variant,p.%3D,ENST00000524491,;PC,synonymous_variant,p.%3D,ENST00000355677,;PC,synonymous_variant,p.%3D,ENST00000393960,;PC,synonymous_variant,p.%3D,ENST00000393958,;PC,synonymous_variant,p.%3D,ENST00000393955,;PC,non_coding_transcript_exon_variant,,ENST00000531614,;PC,non_coding_transcript_exon_variant,,ENST00000528403,;	546	34	39	SUCCESS
DNAJB13	374407	.	GRCh37	11	73681145	73681145	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	19	90	0	ENST00000339764.1:c.937G>A	p.Ala313Thr	p.A313T	ENST00000339764	NM_153614.2	313	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8227.1	937	RADIA|MUTECT|MUSE	.	GCCAGGCATTG	NONE	.	.	hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF201	.	.	ENSP00000344431	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000339764	Transcript	.	.	ENSG00000187726	30718	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.701)	.	tolerated(0.22)	.	DJB13_HUMAN	DNAJB13	HGNC	.	.	UPI00001BFAF7	SNV	DNAJB13,missense_variant,p.Ala138Thr,ENST00000537753,;DNAJB13,missense_variant,p.Ala138Thr,ENST00000543947,;DNAJB13,missense_variant,p.Ala214Thr,ENST00000542350,;DNAJB13,missense_variant,p.Ala313Thr,ENST00000339764,;UCP2,downstream_gene_variant,,ENST00000536983,;UCP2,downstream_gene_variant,,ENST00000544615,;UCP2,downstream_gene_variant,,ENST00000310473,;RP11-167N4.2,non_coding_transcript_exon_variant,,ENST00000537019,;	1688	90	74	SUCCESS
PIWIL4	143689	.	GRCh37	11	94354053	94354053	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	15	84	0	ENST00000299001.6:c.2454T>G	p.Ser818Arg	p.S818R	ENST00000299001	NM_152431.2	818	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS31656.1	2454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGTGTCCC	NONE	.	.	PROSITE_profiles:PS50822,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098	.	.	ENSP00000299001	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000299001	Transcript	.	.	ENSG00000134627	18444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,missense_variant,p.Ser818Arg,ENST00000299001,;PIWIL4,missense_variant,p.Ser169Arg,ENST00000537419,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,3_prime_UTR_variant,,ENST00000446230,;PIWIL4,downstream_gene_variant,,ENST00000543336,;	2665	84	72	SUCCESS
TBX3	6926	.	GRCh37	12	115109981	115109981	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	44	0	ENST00000257566.3:c.1897A>T	p.Thr633Ser	p.T633S	ENST00000257566	NM_016569.3	633	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS9176.1	1897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGTGTTCA	NONE	.	.	hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91	.	.	ENSP00000257566	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000257566	Transcript	.	.	ENSG00000135111	11602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	TBX3_HUMAN	TBX3	HGNC	.	.	UPI0000136AA0	SNV	TBX3,missense_variant,p.Thr613Ser,ENST00000349155,;TBX3,missense_variant,p.Thr633Ser,ENST00000257566,;	2287	44	43	SUCCESS
ADAMTS20	80070	.	GRCh37	12	43846137	43846137	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	15	79	0	ENST00000389420.3:c.2019T>A	p.Val673=	p.V673=	ENST00000389420	NM_025003.3	673	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31778.2	2019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAACCAT	NONE	.	.	hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165	.	.	ENSP00000374071	.	14/39	.	.	.	.	.	.	.	.	.	14/39	PASS	ENST00000389420	Transcript	.	.	ENSG00000173157	17178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS20_HUMAN	ADAMTS20	HGNC	.	.	UPI00004565F4	SNV	ADAMTS20,synonymous_variant,p.%3D,ENST00000553158,;ADAMTS20,synonymous_variant,p.%3D,ENST00000389420,;	2019	79	71	SUCCESS
KRT121P	0	.	GRCh37	12	52648146	52648146	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	26	0	ENST00000257935.6:n.962T>C		p.X321_splice	ENST00000257935		321		0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCACATCCTA	NONE	.	.	.	.	.	.	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000257935	Transcript	.	.	ENSG00000135477	30198	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	KRT121P	HGNC	.	.	.	SNV	KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;KRT121P,splice_region_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000548657,;KRT121P,splice_region_variant,,ENST00000257935,;KRT121P,splice_region_variant,,ENST00000534226,;	962	26	26	SUCCESS
HOXC11	3227	.	GRCh37	12	54367576	54367576	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	65	0	ENST00000546378.1:c.551C>T	p.Pro184Leu	p.P184L	ENST00000546378		184	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS8867.1	551	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCCCCGG	NONE	.	.	hmmpanther:PTHR24326:SF172,hmmpanther:PTHR24326	.	.	ENSP00000446680	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000546378	Transcript	.	.	ENSG00000123388	5123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.52)	.	deleterious(0.05)	.	HXC11_HUMAN	HOXC11	HGNC	.	.	UPI000012CF7D	SNV	HOXC11,missense_variant,p.Pro184Leu,ENST00000546378,;HOXC11,missense_variant,p.Pro184Leu,ENST00000243082,;HOTAIR,intron_variant,,ENST00000424518,;HOTAIR,intron_variant,,ENST00000455246,;HOTAIR,upstream_gene_variant,,ENST00000439545,;	667	65	67	SUCCESS
SLC6A15	55117	.	GRCh37	12	85279232	85279232	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	78	219	0	ENST00000266682.5:c.556A>G	p.Lys186Glu	p.K186E	ENST00000266682	NM_182767.5	186	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS9026.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTCACCA	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,PROSITE_patterns:PS00754,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000266682	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.59)	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,missense_variant,p.Lys79Glu,ENST00000552192,;SLC6A15,missense_variant,p.Lys186Glu,ENST00000450363,;SLC6A15,missense_variant,p.Lys186Glu,ENST00000266682,;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000547240,;SLC6A15,intron_variant,,ENST00000551388,;	1098	219	198	SUCCESS
CLEC6A	93978	.	GRCh37	12	8612254	8612254	+	synonymous_variant	Silent	SNP	T	T	C	rs142509792	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	34	74	0	ENST00000382073.3:c.183T>C	p.His61=	p.H61=	ENST00000382073	NM_001007033.1	61	caT/caC	0	A:0.0002	A:0	.	A:0.0029	.	C	H	protein_coding	YES	CCDS31739.1	183	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCATTCAAG	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF56436,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF10	A:0	A:0.0002	ENSP00000371505	A:0	3/6	.	.	.	.	.	.	.	.	rs142509792	3/6	PASS	ENST00000382073	Transcript	.	.	ENSG00000205846	14556	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CLC6A_HUMAN	CLEC6A	HGNC	.	.	UPI00003BE8D6	SNV	CLEC6A,synonymous_variant,p.%3D,ENST00000382073,;RP11-113C12.2,upstream_gene_variant,,ENST00000477936,;	369	74	96	SUCCESS
CLEC4D	338339	.	GRCh37	12	8672896	8672896	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	12	99	0	ENST00000299665.2:c.459G>T	p.Gln153His	p.Q153H	ENST00000299665	NM_080387.4	153	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS8593.1	459	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCAGTGGCG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF11,hmmpanther:PTHR22802,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000299665	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000299665	Transcript	.	.	ENSG00000166527	14554	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.126)	.	tolerated(0.08)	.	CLC4D_HUMAN	CLEC4D	HGNC	A6NHA5_HUMAN	.	UPI0000072EBB	SNV	CLEC4D,missense_variant,p.Gln153His,ENST00000299665,;CLEC4D,downstream_gene_variant,,ENST00000382064,;	652	99	92	SUCCESS
TPP2	7174	.	GRCh37	13	103328668	103328668	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	425	290	0	ENST00000376065.4:c.3563A>T	p.His1188Leu	p.H1188L	ENST00000376065	NM_003291.2	1188	cAt/cTt	0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS9502.1	3563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACATGCAT	NONE	.	.	.	.	.	ENSP00000365233	.	28/29	.	.	.	.	.	.	.	.	.	28/29	PASS	ENST00000376065	Transcript	.	.	ENSG00000134900	12016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.93)	.	deleterious(0)	.	TPP2_HUMAN	TPP2	HGNC	.	.	UPI0000001C91	SNV	TPP2,missense_variant,p.His1201Leu,ENST00000376052,;TPP2,missense_variant,p.His1188Leu,ENST00000376065,;RP11-29B2.5,upstream_gene_variant,,ENST00000602560,;TPP2,non_coding_transcript_exon_variant,,ENST00000466153,;TPP2,downstream_gene_variant,,ENST00000482393,;	3599	290	633	SUCCESS
MCF2L	23263	.	GRCh37	13	113750685	113750685	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	17	92	0	ENST00000375608.3:c.3166G>A	p.Val1056Ile	p.V1056I	ENST00000375608		1056	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS45070.2	3076	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGTTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Gene3D:2.30.30.40	.	.	ENSP00000440374	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000535094	Transcript	.	.	ENSG00000126217	14576	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.197)	.	tolerated(0.13)	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,missense_variant,p.Val1024Ile,ENST00000423482,;MCF2L,missense_variant,p.Val309Ile,ENST00000413354,;MCF2L,missense_variant,p.Val197Ile,ENST00000261963,;MCF2L,missense_variant,p.Val712Ile,ENST00000397017,;MCF2L,missense_variant,p.Val1056Ile,ENST00000375608,;MCF2L,missense_variant,p.Val1026Ile,ENST00000535094,;MCF2L,missense_variant,p.Val1032Ile,ENST00000434480,;MCF2L,missense_variant,p.Val98Ile,ENST00000420013,;MCF2L,missense_variant,p.Val1056Ile,ENST00000442652,;MCF2L,missense_variant,p.Val1059Ile,ENST00000397030,;MCF2L,missense_variant,p.Val1030Ile,ENST00000375601,;MCF2L,missense_variant,p.Val1030Ile,ENST00000421756,;MCF2L,missense_variant,p.Val1083Ile,ENST00000375604,;MCF2L,missense_variant,p.Val237Ile,ENST00000453297,;AL137002.1,downstream_gene_variant,,ENST00000593656,;MCF2L,downstream_gene_variant,,ENST00000439475,;MCF2L,downstream_gene_variant,,ENST00000441756,;MCF2L,splice_region_variant,,ENST00000469415,;MCF2L,non_coding_transcript_exon_variant,,ENST00000488765,;MCF2L,downstream_gene_variant,,ENST00000491028,;	3235	92	172	SUCCESS
MICU2	221154	.	GRCh37	13	22077105	22077105	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs762263379	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	38	78	0	ENST00000382374.4:c.893T>C	p.Ile298Thr	p.I298T	ENST00000382374	NM_152726.2	298	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS9297.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAAATATCT	NONE	.	.	hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF3	.	.	ENSP00000371811	.	9/12	.	.	.	.	.	.	.	.	rs762263379	9/12	PASS	ENST00000382374	Transcript	.	.	ENSG00000165487	31830	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.34)	.	MICU2_HUMAN	MICU2	HGNC	.	.	UPI0000035DB8	SNV	MICU2,missense_variant,p.Ile298Thr,ENST00000382374,;MICU2,non_coding_transcript_exon_variant,,ENST00000480341,;MICU2,non_coding_transcript_exon_variant,,ENST00000460488,;MICU2,non_coding_transcript_exon_variant,,ENST00000479790,;	959	78	59	SUCCESS
NBEA	26960	.	GRCh37	13	36202217	36202217	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	109	0	ENST00000400445.3:c.7450-1G>T		p.X2484_splice	ENST00000400445	NM_015678.4	2484		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45026.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGGCCCT	NONE	.	.	.	.	.	ENSP00000383295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	HIGH	48/57	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,splice_acceptor_variant,,ENST00000379922,;NBEA,splice_acceptor_variant,,ENST00000400445,;NBEA,splice_acceptor_variant,,ENST00000540320,;NBEA,splice_acceptor_variant,,ENST00000310336,;NBEA,splice_acceptor_variant,,ENST00000537702,;NBEA,splice_acceptor_variant,,ENST00000379939,;	.	109	54	SUCCESS
MYH7	4625	.	GRCh37	14	23894029	23894029	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs749627954	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	68	0	ENST00000355349.3:c.2628G>C	p.Lys876Asn	p.K876N	ENST00000355349	NM_000257.2	876	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS9601.1	2628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCTTCTC	BUFFER|p.E875D|c.2625G>C|3	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000347507	.	22/40	.	.	.	.	.	.	.	.	rs749627954	22/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Lys876Asn,ENST00000355349,;	2791	68	74	SUCCESS
CDKL1	8814	.	GRCh37	14	50802858	50802858	+	intron_variant	Intron	SNP	G	G	A	rs778665241	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	48	0	ENST00000395834.1:c.742-1519C>T		p.*248*	ENST00000395834	NM_004196.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9699.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACGCTGGA	NONE	byFrequency	.	.	.	.	ENSP00000379176	.	.	.	.	.	.	.	.	.	.	rs778665241	.	PASS	ENST00000395834	Transcript	.	.	ENSG00000100490	1781	.	.	MODIFIER	6/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDKL1_HUMAN	CDKL1	HGNC	.	.	UPI000013C6E9	SNV	CDKL1,intron_variant,,ENST00000534267,;CDKL1,intron_variant,,ENST00000525911,;CDKL1,intron_variant,,ENST00000216378,;CDKL1,intron_variant,,ENST00000395834,;ATP5S,downstream_gene_variant,,ENST00000358473,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,downstream_gene_variant,,ENST00000542671,;CDKL1,downstream_gene_variant,,ENST00000529347,;	.	48	36	SUCCESS
PTGDR	5729	.	GRCh37	14	52735356	52735356	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	71	0	ENST00000306051.2:c.824C>A	p.Thr275Asn	p.T275N	ENST00000306051	NM_000953.2	275	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS9707.1	824	MUTECT|MUSE	.	CTTCACTATGT	NONE	.	.	Prints_domain:PR01788,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR11866:SF14,hmmpanther:PTHR11866,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000303424	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000306051	Transcript	.	.	ENSG00000168229	9591	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.076)	.	deleterious(0.02)	.	PD2R_HUMAN	PTGDR	HGNC	.	.	UPI000000D994	SNV	PTGDR,missense_variant,p.Thr275Asn,ENST00000553372,;PTGDR,missense_variant,p.Thr275Asn,ENST00000306051,;	926	71	76	SUCCESS
APBA2	321	.	GRCh37	15	29346497	29346497	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143649138	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	69	0	ENST00000558259.1:c.410C>T	p.Ala137Val	p.A137V	ENST00000558259	NM_005503.3	137	gCg/gTg	0	T:0	T:0.0008	.	T:0	.	T	A/V	protein_coding	YES	CCDS10022.1	410	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGGTGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12	T:0	T:0.0009	ENSP00000453293	T:0	5/16	.	.	.	.	.	.	.	.	rs143649138,CM0910142,COSM273624	5/16	common_in_exac	ENST00000558402	Transcript	.	T:0.0002	ENSG00000034053	579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.108)	T:0	deleterious_low_confidence(0)	0,0,1	APBA2_HUMAN	APBA2	HGNC	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN	.	UPI0000046798	SNV	APBA2,missense_variant,p.Ala137Val,ENST00000558259,;APBA2,missense_variant,p.Ala137Val,ENST00000561069,;APBA2,missense_variant,p.Ala137Val,ENST00000558402,;APBA2,missense_variant,p.Ala137Val,ENST00000558330,;APBA2,missense_variant,p.Ala137Val,ENST00000558358,;APBA2,missense_variant,p.Ala137Val,ENST00000411764,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	1009	69	60	SUCCESS
DPH6	89978	.	GRCh37	15	35747015	35747015	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	430	18	405	0	ENST00000256538.4:c.319G>C	p.Glu107Gln	p.E107Q	ENST00000256538	NM_080650.3	107	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS10043.1	319	MUTECT|MUSE	.	TTCTTCTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12196,Pfam_domain:PF01902,TIGRFAM_domain:TIGR00290,Gene3D:3.40.50.620,Superfamily_domains:SSF52402	.	.	ENSP00000256538	.	4/9	.	.	.	.	.	.	.	.	COSM960944	4/9	PASS	ENST00000256538	Transcript	.	.	ENSG00000134146	30543	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.063)	.	tolerated(0.25)	1	DPH6_HUMAN	DPH6	HGNC	H0YND7_HUMAN	.	UPI000007296C	SNV	DPH6,missense_variant,p.Glu107Gln,ENST00000256538,;DPH6,missense_variant,p.Glu59Gln,ENST00000561411,;DPH6,upstream_gene_variant,,ENST00000558266,;DPH6,non_coding_transcript_exon_variant,,ENST00000559784,;	346	405	448	SUCCESS
TMOD3	29766	.	GRCh37	15	52194155	52194155	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	77	209	1	ENST00000308580.7:c.946C>G	p.Leu316Val	p.L316V	ENST00000308580	NM_014547.4	316	Ctt/Gtt	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS10145.1	946	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCCTTAAA	NONE	.	.	Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR10901:SF15,hmmpanther:PTHR10901	.	.	ENSP00000308753	.	9/10	.	.	.	.	.	.	.	.	COSM3502123	9/10	PASS	ENST00000308580	Transcript	.	.	ENSG00000138594	11873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.036)	.	tolerated(0.21)	1	TMOD3_HUMAN	TMOD3	HGNC	H0YNU8_HUMAN,H0YNJ8_HUMAN	.	UPI0000137082	SNV	TMOD3,missense_variant,p.Leu316Val,ENST00000308580,;TMOD3,missense_variant,p.Leu316Val,ENST00000544199,;RP11-56B16.5,upstream_gene_variant,,ENST00000558142,;TMOD3,non_coding_transcript_exon_variant,,ENST00000560725,;TMOD3,missense_variant,p.Leu151Val,ENST00000561438,;TMOD3,missense_variant,p.Leu177Val,ENST00000560549,;	1227	210	204	SUCCESS
SH3GL3	6457	.	GRCh37	15	84241337	84241337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	71	0	ENST00000427482.2:c.352G>C	p.Gly118Arg	p.G118R	ENST00000427482	NM_003027.3	118	Ggt/Cgt	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS10325.2	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTGGTGAA	NONE	.	.	PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF120,hmmpanther:PTHR10661,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	.	.	ENSP00000391372	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000427482	Transcript	.	.	ENSG00000140600	10832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SH3G3_HUMAN	SH3GL3	HGNC	Q9UMB8_HUMAN	.	UPI0000135935	SNV	SH3GL3,missense_variant,p.Gly126Arg,ENST00000324537,;SH3GL3,missense_variant,p.Gly118Arg,ENST00000427482,;SH3GL3,missense_variant,p.Gly126Arg,ENST00000434347,;SH3GL3,missense_variant,p.Gly118Arg,ENST00000535412,;SH3GL3,3_prime_UTR_variant,,ENST00000563901,;	658	71	72	SUCCESS
CACNA1H	8912	.	GRCh37	16	1260417	1260417	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	82	0	ENST00000348261.5:c.3893A>G	p.His1298Arg	p.H1298R	ENST00000348261	NM_021098.2	1298	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS45375.1	3893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATCACGTGG	NONE	.	.	Superfamily_domains:SSF81324,Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192	.	.	ENSP00000334198	.	19/35	.	.	.	.	.	.	.	.	.	19/35	PASS	ENST00000348261	Transcript	.	.	ENSG00000196557	1395	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.04)	.	CAC1H_HUMAN	CACNA1H	HGNC	Q9NYY7_HUMAN,Q9NYY6_HUMAN	.	UPI000012727B	SNV	CACNA1H,missense_variant,p.His40Arg,ENST00000562079,;CACNA1H,missense_variant,p.His1298Arg,ENST00000348261,;CACNA1H,missense_variant,p.His40Arg,ENST00000564231,;CACNA1H,missense_variant,p.His1298Arg,ENST00000565831,;CACNA1H,missense_variant,p.His1298Arg,ENST00000358590,;CACNA1H,missense_variant,p.His40Arg,ENST00000569107,;CACNA1H,upstream_gene_variant,,ENST00000564927,;RP11-616M22.3,upstream_gene_variant,,ENST00000564700,;CACNA1H,non_coding_transcript_exon_variant,,ENST00000569953,;	4141	82	49	SUCCESS
MLST8	64223	.	GRCh37	16	2257035	2257035	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	rs1465181274	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	32	171	0	ENST00000397124.1:c.345-1G>C		p.X115_splice	ENST00000397124	NM_001199174.1	115		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10462.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGGTCCC	NONE	.	.	.	.	.	ENSP00000456405	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000569417	Transcript	.	.	ENSG00000167965	24825	.	.	HIGH	4/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LST8_HUMAN	MLST8	HGNC	H3BQ74_HUMAN,H3BN58_HUMAN	.	UPI000006D8E8	SNV	MLST8,splice_acceptor_variant,,ENST00000301725,;MLST8,splice_acceptor_variant,,ENST00000562479,;MLST8,splice_acceptor_variant,,ENST00000569457,;MLST8,splice_acceptor_variant,,ENST00000397124,;MLST8,splice_acceptor_variant,,ENST00000564088,;MLST8,splice_acceptor_variant,,ENST00000301724,;MLST8,splice_acceptor_variant,,ENST00000562352,;MLST8,splice_acceptor_variant,,ENST00000569417,;MLST8,splice_acceptor_variant,,ENST00000565250,;MLST8,splice_acceptor_variant,,ENST00000382450,;BRICD5,downstream_gene_variant,,ENST00000328540,;MLST8,downstream_gene_variant,,ENST00000563179,;PGP,downstream_gene_variant,,ENST00000333503,;BRICD5,downstream_gene_variant,,ENST00000566018,;BRICD5,downstream_gene_variant,,ENST00000562360,;AC009065.3,upstream_gene_variant,,ENST00000517149,;RP11-304L19.8,upstream_gene_variant,,ENST00000561544,;MLST8,splice_acceptor_variant,,ENST00000561651,;MLST8,splice_acceptor_variant,,ENST00000562844,;MLST8,splice_acceptor_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,splice_acceptor_variant,,ENST00000569848,;MLST8,splice_acceptor_variant,,ENST00000567282,;MLST8,splice_acceptor_variant,,ENST00000565687,;MLST8,splice_acceptor_variant,,ENST00000567623,;MLST8,splice_acceptor_variant,,ENST00000570224,;MLST8,splice_acceptor_variant,,ENST00000566835,;MLST8,splice_acceptor_variant,,ENST00000568194,;MLST8,splice_acceptor_variant,,ENST00000562851,;MLST8,splice_acceptor_variant,,ENST00000565330,;MLST8,splice_acceptor_variant,,ENST00000565717,;MLST8,splice_acceptor_variant,,ENST00000568542,;MLST8,splice_acceptor_variant,,ENST00000563067,;MLST8,intron_variant,,ENST00000563107,;BRICD5,downstream_gene_variant,,ENST00000566795,;MLST8,downstream_gene_variant,,ENST00000566653,;MLST8,upstream_gene_variant,,ENST00000562239,;MLST8,downstream_gene_variant,,ENST00000564294,;MLST8,downstream_gene_variant,,ENST00000564679,;MLST8,upstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000567928,;MLST8,downstream_gene_variant,,ENST00000565269,;	.	171	139	SUCCESS
USB1	79650	.	GRCh37	16	58036446	58036446	+	synonymous_variant	Silent	SNP	G	G	A	rs143792185	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	81	0	ENST00000219281.3:c.162G>A	p.Pro54=	p.P54=	ENST00000219281	NM_024598.3	54	ccG/ccA	0	A:0.0009	A:0	.	A:0	.	A	P	protein_coding	YES	CCDS10791.1	162	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGGGCAC	NONE	byFrequency|byCluster|by1000G	.	HAMAP:MF_03040,hmmpanther:PTHR13522,Pfam_domain:PF09749	A:0.002	A:0.0001	ENSP00000219281	A:0.001	2/7	.	.	.	.	.	.	.	.	rs143792185	2/7	PASS	ENST00000219281	Transcript	.	A:0.0008	ENSG00000103005	25792	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	USB1_HUMAN	USB1	HGNC	H3BNM8_HUMAN,B4DDJ8_HUMAN	.	UPI00000720EC	SNV	USB1,synonymous_variant,p.%3D,ENST00000563149,;USB1,synonymous_variant,p.%3D,ENST00000219281,;USB1,synonymous_variant,p.%3D,ENST00000561568,;USB1,synonymous_variant,p.%3D,ENST00000423271,;USB1,synonymous_variant,p.%3D,ENST00000539737,;USB1,synonymous_variant,p.%3D,ENST00000561743,;ZNF319,upstream_gene_variant,,ENST00000562909,;ZNF319,upstream_gene_variant,,ENST00000299237,;USB1,non_coding_transcript_exon_variant,,ENST00000569252,;USB1,non_coding_transcript_exon_variant,,ENST00000565662,;USB1,non_coding_transcript_exon_variant,,ENST00000568848,;USB1,non_coding_transcript_exon_variant,,ENST00000563207,;USB1,intron_variant,,ENST00000562534,;USB1,synonymous_variant,p.%3D,ENST00000564387,;USB1,non_coding_transcript_exon_variant,,ENST00000566292,;	273	81	71	SUCCESS
CES3	23491	.	GRCh37	16	67006828	67006828	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs746873961	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	33	105	0	ENST00000303334.4:c.1592C>A	p.Pro531Gln	p.P531Q	ENST00000303334	NM_024922.5	531	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS10826.1	1592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCCAGTGC	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF163	.	.	ENSP00000304782	.	13/13	.	.	.	.	.	.	.	.	rs746873961	13/13	PASS	ENST00000303334	Transcript	.	.	ENSG00000172828	1865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.876)	.	deleterious(0)	.	EST3_HUMAN	CES3	HGNC	.	.	UPI0000047824	SNV	CES3,missense_variant,p.Pro170Gln,ENST00000543856,;CES3,missense_variant,p.Pro528Gln,ENST00000394037,;CES3,missense_variant,p.Pro531Gln,ENST00000303334,;CES3,3_prime_UTR_variant,,ENST00000570236,;	1663	105	75	SUCCESS
ATP6V0D1	9114	.	GRCh37	16	67472440	67472440	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	121	0	ENST00000290949.3:c.1047T>A	p.Pro349=	p.P349=	ENST00000290949	NM_004691.4	349	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS10838.1	1047	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATAGGGAT	NONE	.	.	hmmpanther:PTHR11028:SF1,hmmpanther:PTHR11028,PIRSF_domain:PIRSF018497,Superfamily_domains:0044678	.	.	ENSP00000290949	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000290949	Transcript	.	.	ENSG00000159720	13724	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VA0D1_HUMAN	ATP6V0D1	HGNC	R4GN72_HUMAN,C6SUN6_HUMAN	.	UPI0000138041	SNV	ATP6V0D1,synonymous_variant,p.%3D,ENST00000290949,;ATP6V0D1,synonymous_variant,p.%3D,ENST00000565835,;ATP6V0D1,synonymous_variant,p.%3D,ENST00000602876,;ATP6V0D1,synonymous_variant,p.%3D,ENST00000540149,;HSD11B2,downstream_gene_variant,,ENST00000326152,;ATP6V0D1,downstream_gene_variant,,ENST00000564615,;ATP6V0D1,downstream_gene_variant,,ENST00000567694,;HSD11B2,downstream_gene_variant,,ENST00000567684,;ATP6V0D1,3_prime_UTR_variant,,ENST00000426604,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000568620,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000563305,;ATP6V0D1,downstream_gene_variant,,ENST00000563064,;ATP6V0D1,downstream_gene_variant,,ENST00000561852,;HSD11B2,downstream_gene_variant,,ENST00000566606,;ATP6V0D1,downstream_gene_variant,,ENST00000568101,;ATP6V0D1,downstream_gene_variant,,ENST00000564191,;ATP6V0D1,downstream_gene_variant,,ENST00000564788,;ATP6V0D1,downstream_gene_variant,,ENST00000566322,;ATP6V0D1,downstream_gene_variant,,ENST00000567170,;AC009061.1,downstream_gene_variant,,ENST00000366223,;	1198	121	92	SUCCESS
DPEP2	64174	.	GRCh37	16	68026979	68026979	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	62	0	ENST00000393847.1:c.137T>A	p.Leu46Gln	p.L46Q	ENST00000393847	NM_022355.3	46	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS10857.1	137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCAGCGTG	NONE	.	.	hmmpanther:PTHR10443:SF9,hmmpanther:PTHR10443	.	.	ENSP00000412549	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000412757	Transcript	.	.	ENSG00000167261	23028	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.298)	.	tolerated_low_confidence(0.36)	.	DPEP2_HUMAN	DPEP2	HGNC	I3L4H3_HUMAN,I3L348_HUMAN	.	UPI000013D7DC	SNV	DPEP2,missense_variant,p.Leu46Gln,ENST00000574865,;DPEP2,missense_variant,p.Leu46Gln,ENST00000572888,;DPEP2,missense_variant,p.Leu46Gln,ENST00000393847,;DPEP2,missense_variant,p.Leu46Gln,ENST00000572624,;DPEP2,missense_variant,p.Leu46Gln,ENST00000412757,;DUS2,intron_variant,,ENST00000571081,;DUS2,intron_variant,,ENST00000570709,;DPEP2,intron_variant,,ENST00000573808,;DPEP2,intron_variant,,ENST00000575510,;DUS2,upstream_gene_variant,,ENST00000575677,;DPEP2,missense_variant,p.Leu46Gln,ENST00000575203,;DPEP2,non_coding_transcript_exon_variant,,ENST00000574316,;DPEP2,non_coding_transcript_exon_variant,,ENST00000268795,;	803	62	57	SUCCESS
NFAT5	10725	.	GRCh37	16	69726159	69726159	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	14	57	0	ENST00000354436.2:c.2378del	p.Gly793GlufsTer10	p.G793Efs*10	ENST00000354436	NM_006599.3	793	Gga/ga	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS45518.1	2431	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAGTGGAAGT	NONE	.	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000396538	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000432919	Transcript	.	.	ENSG00000102908	7774	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFAT5_HUMAN	NFAT5	HGNC	.	.	UPI000049DE1B	deletion	NFAT5,frameshift_variant,p.Gly810GlufsTer10,ENST00000567239,;NFAT5,frameshift_variant,p.Gly811GlufsTer10,ENST00000432919,;NFAT5,frameshift_variant,p.Gly793GlufsTer10,ENST00000354436,;NFAT5,frameshift_variant,p.Gly717GlufsTer10,ENST00000349945,;NFAT5,frameshift_variant,p.Gly717GlufsTer10,ENST00000393742,;NFAT5,frameshift_variant,p.Gly717GlufsTer10,ENST00000566899,;NFAT5,intron_variant,,ENST00000565301,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,downstream_gene_variant,,ENST00000568832,;NFAT5,downstream_gene_variant,,ENST00000562429,;	3639	57	78	SUCCESS
VAC14	55697	.	GRCh37	16	70820268	70820268	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	29	61	0	ENST00000261776.5:c.105G>T	p.Lys35Asn	p.K35N	ENST00000261776	NM_018052.3	35	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS10896.1	105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCTGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000261776	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000261776	Transcript	.	.	ENSG00000103043	25507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.632)	.	deleterious(0)	.	VAC14_HUMAN	VAC14	HGNC	Q9NTB8_HUMAN,B3KSM8_HUMAN	.	UPI00001A832B	SNV	VAC14,missense_variant,p.Lys35Asn,ENST00000261776,;VAC14,missense_variant,p.Lys35Asn,ENST00000568886,;VAC14,non_coding_transcript_exon_variant,,ENST00000566655,;VAC14,intron_variant,,ENST00000568548,;	366	61	53	SUCCESS
PLCG2	5336	.	GRCh37	16	81922840	81922840	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs372494175	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	21	97	0	ENST00000359376.3:c.829A>T	p.Met277Leu	p.M277L	ENST00000359376	NM_002661.3	277	Atg/Ttg	0	G:0.0002	G:0.0008	.	G:0	.	T	M/L	protein_coding	YES	CCDS42204.1	829	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCATGCGT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF47473,PIRSF_domain:PIRSF000952,Pfam_domain:PF09279,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25	G:0	G:0	ENSP00000352336	G:0	10/33	.	.	.	.	.	.	.	.	rs372494175	10/33	PASS	ENST00000359376	Transcript	.	G:0.0002	ENSG00000197943	9066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	G:0	tolerated(0.72)	.	PLCG2_HUMAN	PLCG2	HGNC	H3BQV5_HUMAN	.	UPI00001411F7	SNV	PLCG2,missense_variant,p.Met277Leu,ENST00000359376,;PLCG2,missense_variant,p.Met47Leu,ENST00000563193,;PLCG2,upstream_gene_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000563375,;	1043	97	98	SUCCESS
MYH8	4626	.	GRCh37	17	10307686	10307686	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	125	0	ENST00000403437.2:c.2649C>A	p.Leu883=	p.L883=	ENST00000403437	NM_002472.2	883	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11153.1	2649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAGAGAGT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF340,hmmpanther:PTHR13140,Gene3D:1.20.5.340,Superfamily_domains:SSF90257	.	.	ENSP00000384330	.	22/40	.	.	.	.	.	.	.	.	.	22/40	PASS	ENST00000403437	Transcript	.	.	ENSG00000133020	7578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH8_HUMAN	MYH8	HGNC	.	.	UPI000012FB7D	SNV	MYH8,synonymous_variant,p.%3D,ENST00000403437,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	2744	125	86	SUCCESS
RAI1	10743	.	GRCh37	17	17696772	17696772	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	141	0	ENST00000353383.1:c.510C>T	p.Ser170=	p.S170=	ENST00000353383	NM_030665.3	170	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS11188.1	510	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCCCTGCA	NONE	.	.	hmmpanther:PTHR14955:SF6,hmmpanther:PTHR14955	.	.	ENSP00000323074	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000353383	Transcript	.	.	ENSG00000108557	9834	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAI1_HUMAN	RAI1	HGNC	J3QLL5_HUMAN,A8MXE8_HUMAN	.	UPI0000200AAF	SNV	RAI1,synonymous_variant,p.%3D,ENST00000353383,;RAI1,synonymous_variant,p.%3D,ENST00000261641,;RAI1,synonymous_variant,p.%3D,ENST00000395774,;RAI1,upstream_gene_variant,,ENST00000583166,;RAI1,downstream_gene_variant,,ENST00000471135,;	979	141	75	SUCCESS
KANSL1	284058	.	GRCh37	17	44110524	44110532	+	frameshift_variant	Frame_Shift_Del	DEL	AGGGCGGCG	AGGGCGGCG	GGCA	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	AGGGCGGCG	AGGGCGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	70	0	ENST00000574590.1:c.2751_2759delinsTGCC	p.Leu920CysfsTer4	p.L920Cfs*4	ENST00000574590	NM_001193465.1	917	ttCGCCGCCCTg/ttTGCCg	0	.	.	.	.	.	GGCA	FAAL/FAX	protein_coding	YES	CCDS11503.1	2751-2759	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATGCAGGGCGGCGAAGGC	NONE	.	.	hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443,Pfam_domain:PF15275	.	.	ENSP00000262419	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000262419	Transcript	.	.	ENSG00000120071	24565	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KANL1_HUMAN	KANSL1	HGNC	I3L243_HUMAN,I3L233_HUMAN	.	UPI0001AE66EA	substitution	KANSL1,frameshift_variant,p.Leu214CysfsTer4,ENST00000393476,;KANSL1,frameshift_variant,p.Leu920CysfsTer4,ENST00000574590,;KANSL1,frameshift_variant,p.Leu856CysfsTer4,ENST00000575318,;KANSL1,frameshift_variant,p.Leu920CysfsTer4,ENST00000432791,;KANSL1,frameshift_variant,p.Leu920CysfsTer4,ENST00000262419,;KANSL1,frameshift_variant,p.Leu920CysfsTer4,ENST00000572904,;MAPT,downstream_gene_variant,,ENST00000340799,;MAPT,downstream_gene_variant,,ENST00000262410,;MAPT,downstream_gene_variant,,ENST00000446361,;MAPT,downstream_gene_variant,,ENST00000535772,;MAPT,downstream_gene_variant,,ENST00000351559,;MAPT,downstream_gene_variant,,ENST00000344290,;MAPT,downstream_gene_variant,,ENST00000347967,;RP11-669E14.6,upstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576137,;KANSL1,non_coding_transcript_exon_variant,,ENST00000573682,;KANSL1,upstream_gene_variant,,ENST00000574963,;KANSL1,downstream_gene_variant,,ENST00000573286,;	3222-3230	70	66	SUCCESS
HOXB8	3218	.	GRCh37	17	46692089	46692089	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	33	0	ENST00000239144.4:c.-23C>A		p.*8*	ENST00000239144	NM_024016.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11533.1	.	MUTECT|MUSE	.	CGGCGGCGGCG	NONE	.	.	.	.	.	ENSP00000239144	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239144	Transcript	.	.	ENSG00000120068	5119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXB8_HUMAN	HOXB8	HGNC	I3L221_HUMAN	.	UPI000012CF63	SNV	HOXB8,5_prime_UTR_variant,,ENST00000468443,;HOXB8,5_prime_UTR_variant,,ENST00000239144,;HOXB7,upstream_gene_variant,,ENST00000239165,;HOXB8,upstream_gene_variant,,ENST00000576562,;HOXB8,upstream_gene_variant,,ENST00000498634,;HOXB7,intron_variant,,ENST00000567101,;	213	33	25	SUCCESS
EFCAB3	146779	.	GRCh37	17	60493662	60493662	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768995121	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	72	0	ENST00000305286.3:c.1289G>A	p.Arg430Gln	p.R430Q	ENST00000305286	NM_173503.3	430	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS45751.1	1445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACGGAAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF158	.	.	ENSP00000403932	.	12/12	.	.	.	.	.	.	.	.	rs768995121	12/12	PASS	ENST00000450662	Transcript	.	.	ENSG00000172421	26379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.05)	.	EFCB3_HUMAN	EFCAB3	HGNC	E5RJB7_HUMAN,E5RHB1_HUMAN	.	UPI0001929531	SNV	EFCAB3,missense_variant,p.Arg482Gln,ENST00000450662,;EFCAB3,missense_variant,p.Arg430Gln,ENST00000305286,;	1516	72	46	SUCCESS
EIF5A	1984	.	GRCh37	17	7212998	7212998	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	35	0	ENST00000336458.8:c.44C>G	p.Ser15Ter	p.S15*	ENST00000336458	NM_001970.4	15	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS45601.1	134	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCTCAGCCA	NONE	.	.	hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,Gene3D:2.30.30.30,TIGRFAM_domain:TIGR00037,PIRSF_domain:PIRSF003025,Superfamily_domains:SSF50104	.	.	ENSP00000336702	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000336452	Transcript	.	.	ENSG00000132507	3300	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IF5A1_HUMAN	EIF5A	HGNC	I3L397_HUMAN	.	UPI00001B5C0C	SNV	EIF5A,stop_gained,p.Ser15Ter,ENST00000571955,;EIF5A,stop_gained,p.Ser15Ter,ENST00000336458,;EIF5A,stop_gained,p.Ser45Ter,ENST00000336452,;EIF5A,stop_gained,p.Ser15Ter,ENST00000572815,;EIF5A,stop_gained,p.Ser15Ter,ENST00000573542,;EIF5A,stop_gained,p.Ser15Ter,ENST00000576930,;EIF5A,stop_gained,p.Ser15Ter,ENST00000419711,;EIF5A,stop_gained,p.Ser15Ter,ENST00000573714,;EIF5A,stop_gained,p.Ser15Ter,ENST00000416016,;GPS2,downstream_gene_variant,,ENST00000574458,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000380728,;GPS2,downstream_gene_variant,,ENST00000570780,;GPS2,downstream_gene_variant,,ENST00000577040,;GPS2,downstream_gene_variant,,ENST00000391950,;GPS2,downstream_gene_variant,,ENST00000389167,;EIF5A,non_coding_transcript_exon_variant,,ENST00000575001,;EIF5A,non_coding_transcript_exon_variant,,ENST00000355068,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572707,;GPS2,downstream_gene_variant,,ENST00000571098,;GPS2,downstream_gene_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;	182	36	40	SUCCESS
TP53	7157	.	GRCh37	17	7578205	7578205	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs587782177	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	51	135	0	ENST00000269305.4:c.644G>T	p.Ser215Ile	p.S215I	ENST00000269305	NM_001126112.2	215	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS11118.1	644	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	CCACACTATGT	SITE|p.S215I|c.644G>T|4,SITE|p.S215I|c.644G>T|4,SITE|p.S215I|c.644G>T|19,SITE|p.S83I|c.248G>T|4,SITE|p.S122I|c.365G>T|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.S215R|c.645T>G|3,CODON|p.S215R|c.645T>A|4,CODON|p.S122R|c.366T>A|4,CODON|p.S215R|c.645T>G|13,CODON|p.S215R|c.645T>A|4,CODON|p.S83R|c.249T>A|4,CODON|p.S122R|c.366T>G|3,CODON|p.S215R|c.645T>G|3,CODON|p.S83R|c.249T>G|3,CODON|p.S215R|c.645T>A|8,CODON|p.S215T|c.644G>C|3,CODON|p.S215N|c.644G>A|8,BUFFER|p.Y220fs*27|c.655delC|4,BUFFER|p.V218delV|c.652_654delGTG|3,BUFFER|p.P219S|c.655C>T|4,BUFFER|p.V218G|c.653T>G|6,BUFFER|p.V218A|c.653T>C|3,BUFFER|p.V218E|c.653T>A|8,BUFFER|p.V218M|c.652G>A|7,BUFFER|p.V217A|c.650T>C|5,BUFFER|p.V217G|c.650T>G|4,BUFFER|p.V217E|c.650T>A|3,BUFFER|p.V218delV|c.646_648delGTG|8,BUFFER|p.V216G|c.647T>G|5,BUFFER|p.V216A|c.647T>C|3,BUFFER|p.V216E|c.647T>A|4,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|12,BUFFER|p.V123M|c.367G>A|20,BUFFER|p.V216L|c.646G>T|8,BUFFER|p.V216M|c.646G>A|20,BUFFER|p.V216M|c.646G>A|7,BUFFER|p.V216M|c.646G>A|70,BUFFER|p.V84M|c.250G>A|20,BUFFER|p.S215C|c.643A>T|4,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S83G|c.247A>G|3,BUFFER|p.S215G|c.643A>G|10,BUFFER|p.S215G|c.643A>G|3,BUFFER|p.S122G|c.364A>G|3,BUFFER|p.H214Q|c.642T>G|3,BUFFER|p.H214R|c.641A>G|66,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|5,BUFFER|p.H82R|c.245A>G|18,BUFFER|p.H121R|c.362A>G|16,BUFFER|p.H214R|c.641A>G|16,BUFFER|p.H214R|c.641A>G|6,BUFFER|p.H214Y|c.640C>T|5,BUFFER|p.H214D|c.640C>G|4,BUFFER|p.R213R|c.639A>G|6,BUFFER|p.R81Q|c.242G>A|9,BUFFER|p.R213L|c.638G>T|12,BUFFER|p.R213L|c.638G>T|4,BUFFER|p.R213L|c.638G>T|39,BUFFER|p.R213Q|c.638G>A|9,BUFFER|p.R213Q|c.638G>A|31,BUFFER|p.R120L|c.359G>T|12,BUFFER|p.R213P|c.638G>C|6,BUFFER|p.R120Q|c.359G>A|9,BUFFER|p.R81L|c.242G>T|12,BUFFER|p.R213L|c.638G>T|6,BUFFER|p.R213L|c.638G>T|12,BUFFER|p.R213Q|c.638G>A|4,BUFFER|p.R213Q|c.638G>A|9,BUFFER|p.R213Q|c.638G>A|3,BUFFER|p.R213fs*34|c.637delC|3,BUFFER|p.F212fs*3|c.635_636delTT|5,BUFFER|p.R213*|c.637C>T|45,BUFFER|p.R120*|c.358C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R213*|c.637C>T|84,BUFFER|p.R81*|c.241C>T|87,BUFFER|p.R213*|c.637C>T|267,BUFFER|p.R213*|c.637C>T|33,BUFFER|p.F212fs*3|c.634_635delTT|6,BUFFER|p.R213fs*34|c.634delT|5,BUFFER|p.T211T|c.633T>C|9	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	rs587782177,TP53_g.12713G>A,TP53_g.12713G>T,TP53_g.12713del,TP53_g.12713G>C,COSM44175,COSM11450,COSM44887,COSM44093,COSM326720,COSM308328,COSM308327,COSM326719,COSM326721,COSM308329,COSM326722,COSM308330	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ser215Ile,ENST00000413465,;TP53,missense_variant,p.Ser215Ile,ENST00000420246,;TP53,missense_variant,p.Ser215Ile,ENST00000269305,;TP53,missense_variant,p.Ser83Ile,ENST00000509690,;TP53,missense_variant,p.Ser215Ile,ENST00000359597,;TP53,missense_variant,p.Ser122Ile,ENST00000514944,;TP53,missense_variant,p.Ser215Ile,ENST00000445888,;TP53,missense_variant,p.Ser215Ile,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	834	135	111	SUCCESS
CYTH1	9267	.	GRCh37	17	76696458	76696458	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	8	122	0	ENST00000361101.4:c.505G>A	p.Ala169Thr	p.A169T	ENST00000361101	NM_017456.2	169	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42392.2	505	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCAAACG	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF113,hmmpanther:PTHR10663,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000354398	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000361101	Transcript	.	.	ENSG00000108669	9501	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CYH1_HUMAN	CYTH1	HGNC	K7ENH6_HUMAN,K7EKA2_HUMAN,B7Z1T4_HUMAN	.	UPI000000009A	SNV	CYTH1,missense_variant,p.Ala171Thr,ENST00000589768,;CYTH1,missense_variant,p.Ala180Thr,ENST00000586043,;CYTH1,missense_variant,p.Ala169Thr,ENST00000361101,;CYTH1,missense_variant,p.Ala110Thr,ENST00000589297,;CYTH1,missense_variant,p.Ala169Thr,ENST00000446868,;CYTH1,missense_variant,p.Ala169Thr,ENST00000591455,;CYTH1,missense_variant,p.Ala110Thr,ENST00000585509,;CYTH1,intron_variant,,ENST00000589296,;CYTH1,downstream_gene_variant,,ENST00000587308,;CYTH1,downstream_gene_variant,,ENST00000590300,;RNU6-638P,upstream_gene_variant,,ENST00000516582,;CYTH1,intron_variant,,ENST00000590775,;CYTH1,3_prime_UTR_variant,,ENST00000591574,;	576	122	85	SUCCESS
B3GNTL1	146712	.	GRCh37	17	80915065	80915065	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	110	24	149	0	ENST00000320865.3:c.922del	p.Asp308ThrfsTer26	p.D308Tfs*26	ENST00000320865	NM_001009905.1	308	Gac/ac	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS32778.1	922	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGAGTCCTCGT	NONE	.	.	hmmpanther:PTHR22916,hmmpanther:PTHR22916:SF8	.	.	ENSP00000319979	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000320865	Transcript	.	.	ENSG00000175711	21727	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3GNL_HUMAN	B3GNTL1	HGNC	I3L232_HUMAN	.	UPI00003B5C5A	deletion	B3GNTL1,frameshift_variant,p.Asp308ThrfsTer26,ENST00000320865,;B3GNTL1,frameshift_variant,p.Asp197ThrfsTer26,ENST00000576599,;B3GNTL1,intron_variant,,ENST00000570947,;B3GNTL1,downstream_gene_variant,,ENST00000571954,;B3GNTL1,frameshift_variant,p.Asp130ThrfsTer26,ENST00000572977,;B3GNTL1,non_coding_transcript_exon_variant,,ENST00000571394,;B3GNTL1,upstream_gene_variant,,ENST00000573363,;	936	149	134	SUCCESS
GNAL	2774	.	GRCh37	18	11753928	11753928	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	87	175	0	ENST00000269162.5:c.377A>G	p.Asp126Gly	p.D126G	ENST00000269162	NM_001142339.2	126	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS11851.1	608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGACTTTG	NONE	.	.	hmmpanther:PTHR10218:SF131,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895	.	.	ENSP00000334051	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000334049	Transcript	.	.	ENSG00000141404	4388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	deleterious(0.01)	.	GNAL_HUMAN	GNAL	HGNC	Q8N2B4_HUMAN,K7EQ80_HUMAN,K7EPE2_HUMAN	.	UPI000017DF81	SNV	GNAL,missense_variant,p.Asp126Gly,ENST00000535121,;GNAL,missense_variant,p.Asp65Gly,ENST00000585642,;GNAL,missense_variant,p.Asp126Gly,ENST00000423027,;GNAL,missense_variant,p.Asp126Gly,ENST00000269162,;GNAL,missense_variant,p.Asp203Gly,ENST00000334049,;GNAL,missense_variant,p.Asp30Gly,ENST00000590228,;GNAL,non_coding_transcript_exon_variant,,ENST00000590972,;	1216	175	195	SUCCESS
NEDD4L	23327	.	GRCh37	18	56033299	56033299	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	23	62	0	ENST00000400345.3:c.1902A>G	p.Arg634=	p.R634=	ENST00000400345	NM_001144967.2	634	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS45872.1	1902	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGAGAATTAT	NONE	.	.	hmmpanther:PTHR11254:SF310,hmmpanther:PTHR11254,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204	.	.	ENSP00000383199	.	21/31	.	.	.	.	.	.	.	.	.	21/31	PASS	ENST00000400345	Transcript	.	.	ENSG00000049759	7728	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NED4L_HUMAN	NEDD4L	HGNC	K7ENS6_HUMAN,K7EN51_HUMAN	.	UPI000058E3AE	SNV	NEDD4L,synonymous_variant,p.%3D,ENST00000456173,;NEDD4L,synonymous_variant,p.%3D,ENST00000256832,;NEDD4L,synonymous_variant,p.%3D,ENST00000586263,;NEDD4L,synonymous_variant,p.%3D,ENST00000357895,;NEDD4L,synonymous_variant,p.%3D,ENST00000400345,;NEDD4L,synonymous_variant,p.%3D,ENST00000431212,;NEDD4L,synonymous_variant,p.%3D,ENST00000435432,;NEDD4L,synonymous_variant,p.%3D,ENST00000456986,;NEDD4L,synonymous_variant,p.%3D,ENST00000356462,;NEDD4L,synonymous_variant,p.%3D,ENST00000587881,;NEDD4L,synonymous_variant,p.%3D,ENST00000256830,;NEDD4L,synonymous_variant,p.%3D,ENST00000382850,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000585970,;NEDD4L,upstream_gene_variant,,ENST00000587246,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590638,;	2185	62	63	SUCCESS
TMEM200C	645369	.	GRCh37	18	5890394	5890394	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	48	0	ENST00000383490.2:c.1669C>G	p.Gln557Glu	p.Q557E	ENST00000383490	NM_001080209.1	557	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS45825.1	1669	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTGACCAG	NONE	.	.	hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2	.	.	ENSP00000463375	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000581347	Transcript	.	.	ENSG00000206432	37208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.28)	.	T200C_HUMAN	TMEM200C	HGNC	.	.	UPI000020198E	SNV	TMEM200C,missense_variant,p.Gln557Glu,ENST00000383490,;TMEM200C,missense_variant,p.Gln557Glu,ENST00000581347,;RP11-945C19.4,intron_variant,,ENST00000577694,;RP11-945C19.4,downstream_gene_variant,,ENST00000580845,;RP11-945C19.4,downstream_gene_variant,,ENST00000582939,;	2315	48	45	SUCCESS
COLGALT1	79709	.	GRCh37	19	17692114	17692114	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1179950598	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	25	160	0	ENST00000252599.4:c.1730G>A	p.Trp577Ter	p.W577*	ENST00000252599	NM_024656.2	577	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS12363.1	1730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTATGGAACA	NONE	.	.	hmmpanther:PTHR10730:SF10,hmmpanther:PTHR10730	.	.	ENSP00000252599	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000252599	Transcript	.	.	ENSG00000130309	26182	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GT251_HUMAN	COLGALT1	HGNC	Q8WUI9_HUMAN,M0QYH0_HUMAN,B3KQ10_HUMAN	.	UPI000003B0F7	SNV	COLGALT1,stop_gained,p.Trp577Ter,ENST00000252599,;COLGALT1,downstream_gene_variant,,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000593832,;COLGALT1,downstream_gene_variant,,ENST00000597075,;	1850	160	144	SUCCESS
ZNF98	148198	.	GRCh37	19	22575687	22575687	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs140301665	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	80	222	0	ENST00000357774.5:c.350G>T	p.Arg117Leu	p.R117L	ENST00000357774	NM_001098626.1	117	cGt/cTt	0	T:0.0061	T:0.0068	.	T:0	.	A	R/L	protein_coding	YES	CCDS46031.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCACGTCCA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108	T:0	T:0	ENSP00000350418	T:0	4/4	.	.	.	.	.	.	.	.	rs140301665	4/4	PASS	ENST00000357774	Transcript	.	T:0.0032	ENSG00000197360	13174	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	T:0.0072	tolerated(0.15)	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,missense_variant,p.Arg117Leu,ENST00000357774,;ZNF98,missense_variant,p.Arg76Leu,ENST00000593657,;	472	222	226	SUCCESS
LTBP4	8425	.	GRCh37	19	41119595	41119595	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	8	0	ENST00000308370.7:c.2758+160G>T		p.*920*	ENST00000308370	NM_001042544.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GGGGGGGCGGG	NONE	.	.	.	.	.	ENSP00000311905	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	MODIFIER	20/33	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,5_prime_UTR_variant,,ENST00000243562,;LTBP4,intron_variant,,ENST00000545697,;LTBP4,intron_variant,,ENST00000308370,;LTBP4,intron_variant,,ENST00000601032,;LTBP4,intron_variant,,ENST00000396819,;LTBP4,intron_variant,,ENST00000599724,;LTBP4,intron_variant,,ENST00000597071,;LTBP4,intron_variant,,ENST00000204005,;LTBP4,upstream_gene_variant,,ENST00000593463,;LTBP4,intron_variant,,ENST00000598677,;LTBP4,intron_variant,,ENST00000600509,;LTBP4,intron_variant,,ENST00000601209,;LTBP4,intron_variant,,ENST00000602240,;LTBP4,intron_variant,,ENST00000601560,;LTBP4,intron_variant,,ENST00000595183,;LTBP4,upstream_gene_variant,,ENST00000597603,;LTBP4,downstream_gene_variant,,ENST00000598055,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602251,;LTBP4,non_coding_transcript_exon_variant,,ENST00000546155,;LTBP4,intron_variant,,ENST00000594457,;LTBP4,intron_variant,,ENST00000593614,;LTBP4,intron_variant,,ENST00000600499,;LTBP4,upstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000318809,;LTBP4,upstream_gene_variant,,ENST00000594448,;LTBP4,upstream_gene_variant,,ENST00000597816,;LTBP4,upstream_gene_variant,,ENST00000601464,;LTBP4,upstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000598256,;LTBP4,upstream_gene_variant,,ENST00000601570,;LTBP4,downstream_gene_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000594266,;	.	8	9	SUCCESS
NOVA2	4858	.	GRCh37	19	46457193	46457193	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	95	0	ENST00000263257.5:c.241C>T	p.Arg81Trp	p.R81W	ENST00000263257	NM_002516.2	81	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS12679.1	241	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCGCTCTG	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF141,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000263257	.	3/4	.	.	.	.	.	.	.	.	COSM998359	3/4	PASS	ENST00000263257	Transcript	.	.	ENSG00000104967	7887	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	deleterious(0)	1	NOVA2_HUMAN	NOVA2	HGNC	Q9HDB7_HUMAN,M0R1A0_HUMAN	.	UPI000006EBE8	SNV	NOVA2,missense_variant,p.Arg81Trp,ENST00000263257,;NOVA2,5_prime_UTR_variant,,ENST00000596784,;	436	95	73	SUCCESS
DBP	1628	.	GRCh37	19	49136708	49136708	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	71	0	ENST00000222122.5:c.755A>G	p.Glu252Gly	p.E252G	ENST00000222122	NM_001352.3	252	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS12728.1	755	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTCCTCC	NONE	.	.	hmmpanther:PTHR11988:SF7,hmmpanther:PTHR11988,Gene3D:1.20.5.170,Superfamily_domains:SSF57959	.	.	ENSP00000222122	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000222122	Transcript	.	.	ENSG00000105516	2697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	deleterious(0.03)	.	DBP_HUMAN	DBP	HGNC	M0QXW3_HUMAN	.	UPI0000000CC1	SNV	DBP,missense_variant,p.Glu252Gly,ENST00000601104,;DBP,missense_variant,p.Glu252Gly,ENST00000222122,;DBP,missense_variant,p.Glu50Gly,ENST00000593500,;DBP,missense_variant,p.Glu50Gly,ENST00000599385,;SPHK2,downstream_gene_variant,,ENST00000340932,;CA11,downstream_gene_variant,,ENST00000596080,;SPHK2,downstream_gene_variant,,ENST00000599748,;CA11,downstream_gene_variant,,ENST00000084798,;SPHK2,downstream_gene_variant,,ENST00000245222,;SPHK2,downstream_gene_variant,,ENST00000601712,;SPHK2,downstream_gene_variant,,ENST00000598088,;SPHK2,downstream_gene_variant,,ENST00000600537,;SPHK2,downstream_gene_variant,,ENST00000443164,;SPHK2,downstream_gene_variant,,ENST00000599029,;SEC1P,upstream_gene_variant,,ENST00000430145,;SEC1P,upstream_gene_variant,,ENST00000483163,;SEC1P,upstream_gene_variant,,ENST00000474419,;DBP,non_coding_transcript_exon_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000597434,;CA11,downstream_gene_variant,,ENST00000594088,;SPHK2,downstream_gene_variant,,ENST00000426514,;CA11,downstream_gene_variant,,ENST00000599267,;SEC1P,upstream_gene_variant,,ENST00000521217,;	1199	71	69	SUCCESS
SIGLEC12	89858	.	GRCh37	19	52001422	52001422	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751810194	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	59	0	ENST00000291707.3:c.1255A>G	p.Thr419Ala	p.T419A	ENST00000291707	NM_053003.2	419	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS12833.1	1255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGTCAGGC	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,PROSITE_profiles:PS50835	.	.	ENSP00000291707	.	5/8	.	.	.	.	.	.	.	.	rs751810194	5/8	PASS	ENST00000291707	Transcript	.	.	ENSG00000254521	15482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	tolerated(0.27)	.	SIG12_HUMAN	SIGLEC12	HGNC	.	.	UPI0000135992	SNV	SIGLEC12,missense_variant,p.Thr419Ala,ENST00000291707,;SIGLEC12,missense_variant,p.Thr301Ala,ENST00000598614,;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	1311	59	32	SUCCESS
ZNF175	7728	.	GRCh37	19	52091277	52091277	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	77	0	ENST00000262259.2:c.1693G>A	p.Gly565Arg	p.G565R	ENST00000262259	NM_007147.2	565	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS12837.1	1693	RADIA|MUTECT|MUSE|VARSCANS	.	AATGTGGGAAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF37,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000262259	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000262259	Transcript	.	.	ENSG00000105497	12964	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZN175_HUMAN	ZNF175	HGNC	.	.	UPI000013C30A	SNV	ZNF175,missense_variant,p.Gly565Arg,ENST00000262259,;ZNF175,intron_variant,,ENST00000436511,;AC018755.1,downstream_gene_variant,,ENST00000301439,;ZNF175,downstream_gene_variant,,ENST00000600460,;	2051	77	62	SUCCESS
BIRC8	112401	.	GRCh37	19	53794575	53794575	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	85	0	ENST00000426466.1:c.-948C>T		p.*316*	ENST00000426466	NM_033341.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12863.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCGCGCTC	NONE	.	.	.	.	.	ENSP00000412957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000426466	Transcript	.	.	ENSG00000163098	14878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BIRC8_HUMAN	BIRC8	HGNC	.	.	UPI000003966A	SNV	BIRC8,5_prime_UTR_variant,,ENST00000426466,;	301	85	71	SUCCESS
TARM1	441864	.	GRCh37	19	54577312	54577312	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773281113	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	6	110	0	ENST00000432826.1:c.518G>A	p.Ser173Asn	p.S173N	ENST00000432826	NM_001135686.1	173	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS46173.1	518	MUTECT|MUSE	.	CTGGACTCTGC	NONE	.	.	hmmpanther:PTHR11738:SF84,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000439454	.	4/5	.	.	.	.	.	.	.	.	rs773281113	4/5	PASS	ENST00000432826	Transcript	.	.	ENSG00000248385	37250	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.188)	.	tolerated(0.19)	.	TARM1_HUMAN	TARM1	HGNC	.	.	UPI00004FB5DD	SNV	TARM1,missense_variant,p.Ser173Asn,ENST00000432826,;TARM1,missense_variant,p.Ser181Asn,ENST00000446034,;	543	110	125	SUCCESS
TSEN34	79042	.	GRCh37	19	54695109	54695109	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	24	0	ENST00000302937.4:c.-4-103C>G		p.*2*	ENST00000302937	NM_024075.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42609.1	.	RADIA|MUSE|VARSCANS	.	GAGGCCTAGGG	NONE	.	.	.	.	.	ENSP00000379667	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396383	Transcript	1	.	ENSG00000170892	15506	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEN34_HUMAN	TSEN34	HGNC	B0V3J0_HUMAN	.	UPI00000717CA	SNV	TSEN34,5_prime_UTR_variant,,ENST00000396388,;TSEN34,intron_variant,,ENST00000396383,;TSEN34,intron_variant,,ENST00000455798,;TSEN34,intron_variant,,ENST00000456872,;TSEN34,intron_variant,,ENST00000429671,;TSEN34,intron_variant,,ENST00000302937,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000431666,;MBOAT7,upstream_gene_variant,,ENST00000391754,;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000338624,;MBOAT7,upstream_gene_variant,,ENST00000245615,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000437868,;	.	24	29	SUCCESS
ELANE	1991	.	GRCh37	19	855638	855638	+	synonymous_variant	Silent	SNP	C	C	T	rs146878885	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	23	0	ENST00000263621.1:c.441C>T	p.Asn147=	p.N147=	ENST00000263621	NM_001972.2	147	aaC/aaT	0	T:0.0002	T:0.003	.	T:0	.	T	N	protein_coding	YES	CCDS12045.1	441	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACGGGGT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24257:SF16,hmmpanther:PTHR24257,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	T:0.001	T:0.0001	ENSP00000466090	T:0	5/6	.	.	.	.	.	.	.	.	rs146878885	5/6	PASS	ENST00000590230	Transcript	1	T:0.0010	ENSG00000197561	3309	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ELNE_HUMAN	ELANE	HGNC	B2MUD5_HUMAN	.	UPI0000129E6B	SNV	ELANE,synonymous_variant,p.%3D,ENST00000263621,;ELANE,synonymous_variant,p.%3D,ENST00000590230,;CFD,upstream_gene_variant,,ENST00000592860,;CFD,upstream_gene_variant,,ENST00000327726,;	582	23	29	SUCCESS
MUC16	94025	.	GRCh37	19	8996440	8996440	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	108	0	ENST00000397910.4:c.41132C>G	p.Pro13711Arg	p.P13711R	ENST00000397910	NM_024690.2	13711	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS54212.1	41132	MUTECT|MUSE	.	GGTCAGGGTGG	NONE	.	.	Superfamily_domains:0047452,Pfam_domain:PF01390,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,PROSITE_profiles:PS50024	.	.	ENSP00000381008	.	61/84	.	.	.	.	.	.	.	.	.	61/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.989)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Pro352Arg,ENST00000380951,;MUC16,missense_variant,p.Pro13711Arg,ENST00000397910,;MUC16,missense_variant,p.Pro551Arg,ENST00000599436,;MUC16,missense_variant,p.Pro551Arg,ENST00000601404,;MUC16,missense_variant,p.Pro331Arg,ENST00000596768,;	41336	108	84	SUCCESS
ANXA9	8416	.	GRCh37	1	150960818	150960818	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs775300431	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	41	76	0	ENST00000368947.4:c.852+1G>A		p.X284_splice	ENST00000368947	NM_003568.2	284		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS975.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGTGAGA	NONE	byFrequency	.	.	.	.	ENSP00000357943	.	.	.	.	.	.	.	.	.	.	rs775300431	.	PASS	ENST00000368947	Transcript	.	.	ENSG00000143412	547	.	.	HIGH	12/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANXA9_HUMAN	ANXA9	HGNC	.	.	UPI0000035D92	SNV	ANXA9,splice_donor_variant,,ENST00000368947,;ANXA9,downstream_gene_variant,,ENST00000474997,;	.	76	111	SUCCESS
NPR1	4881	.	GRCh37	1	153654209	153654209	+	synonymous_variant	Silent	SNP	C	C	T	rs200678502	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	84	166	0	ENST00000368680.3:c.1065C>T	p.Asp355=	p.D355=	ENST00000368680	NM_000906.3	355	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS1051.1	1065	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGACGGGCT	NONE	byCluster	.	hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF232,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00255	.	.	ENSP00000357669	.	4/22	.	.	.	.	.	.	.	.	rs200678502	4/22	PASS	ENST00000368680	Transcript	.	.	ENSG00000169418	7943	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRA_HUMAN	NPR1	HGNC	.	.	UPI0000125B3D	SNV	NPR1,synonymous_variant,p.%3D,ENST00000368680,;NPR1,non_coding_transcript_exon_variant,,ENST00000413826,;	1537	166	201	SUCCESS
SELP	6403	.	GRCh37	1	169566297	169566297	+	missense_variant	Missense_Mutation	SNP	A	A	C	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	257	9	180	0	ENST00000263686.6:c.1823T>G	p.Leu608Arg	p.L608R	ENST00000263686	NM_003005.3	608	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS1282.1	1823	MUTECT|MUSE	.	CCTCCAGCTTA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF19,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000263686	.	11/17	.	.	.	.	.	.	.	.	COSM530338	11/17	PASS	ENST00000263686	Transcript	.	.	ENSG00000174175	10721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.991)	.	tolerated(0.05)	1	LYAM3_HUMAN	SELP	HGNC	Q6ULR6_HUMAN	.	UPI0000204D4A	SNV	SELP,missense_variant,p.Leu608Arg,ENST00000263686,;SELP,missense_variant,p.Leu546Arg,ENST00000367793,;SELP,missense_variant,p.Leu546Arg,ENST00000367794,;SELP,missense_variant,p.Leu607Arg,ENST00000426706,;SELP,missense_variant,p.Leu546Arg,ENST00000367786,;SELP,missense_variant,p.Leu546Arg,ENST00000367788,;SELP,intron_variant,,ENST00000458599,;SELP,intron_variant,,ENST00000367792,;SELP,intron_variant,,ENST00000367791,;	1861	180	267	SUCCESS
TNR	7143	.	GRCh37	1	175335172	175335172	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	84	123	0	ENST00000263525.2:c.2156C>G	p.Thr719Ser	p.T719S	ENST00000263525	NM_003285.2	719	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS1318.1	2156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGTAATT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF39,hmmpanther:PTHR19143,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000356646	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.189)	.	tolerated(0.16)	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,missense_variant,p.Thr719Ser,ENST00000367674,;TNR,missense_variant,p.Thr719Ser,ENST00000263525,;	2865	123	159	SUCCESS
BRINP2	57795	.	GRCh37	1	177226365	177226365	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	191	73	238	0	ENST00000361539.4:c.514G>A	p.Glu172Lys	p.E172K	ENST00000361539	NM_021165.2	172	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS1320.1	514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGAGACA	NONE	.	.	hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564,SMART_domains:SM00457	.	.	ENSP00000354481	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.575)	.	deleterious(0.01)	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,missense_variant,p.Glu172Lys,ENST00000361539,;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;BRINP2,non_coding_transcript_exon_variant,,ENST00000460161,;	826	238	265	SUCCESS
FAM72A	729533	.	GRCh37	1	206145524	206145525	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TC	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	418	77	383	0	ENST00000367128.3:c.303_304dup	p.Trp102SerfsTer15	p.W102Sfs*15	ENST00000367128		101	ttc/tTCtc	0	.	.	.	.	.	TC	F/FX	protein_coding	YES	CCDS41458.1	301-302	INDELOCATOR|VARSCANI	.	GACACTTCTGG	NONE	.	.	hmmpanther:PTHR31841,Pfam_domain:PF14976	.	.	ENSP00000356096	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000367128	Transcript	.	.	ENSG00000196550	24044	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA72A_HUMAN	FAM72A	HGNC	U3KPW2_HUMAN	.	UPI0000046C34	insertion	FAM72A,frameshift_variant,p.Trp73SerfsTer15,ENST00000431655,;FAM72A,frameshift_variant,p.Trp102SerfsTer15,ENST00000367128,;FAM72A,frameshift_variant,p.Trp62SerfsTer15,ENST00000341209,;FAM72A,frameshift_variant,p.Trp102SerfsTer15,ENST00000367129,;FAM72A,non_coding_transcript_exon_variant,,ENST00000470041,;FAM72A,downstream_gene_variant,,ENST00000481737,;	1149-1150	383	496	SUCCESS
INTS7	25896	.	GRCh37	1	212190324	212190324	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	71	171	0	ENST00000366994.3:c.413A>G	p.Asn138Ser	p.N138S	ENST00000366994	NM_001199811.1	138	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS1501.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCATTCTTC	NONE	.	.	hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000355961	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000366994	Transcript	.	.	ENSG00000143493	24484	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.674)	.	tolerated(0.1)	.	INT7_HUMAN	INTS7	HGNC	.	.	UPI000006FE2E	SNV	INTS7,missense_variant,p.Asn138Ser,ENST00000366994,;INTS7,missense_variant,p.Asn138Ser,ENST00000366993,;INTS7,missense_variant,p.Asn89Ser,ENST00000440600,;INTS7,missense_variant,p.Asn138Ser,ENST00000366992,;INTS7,non_coding_transcript_exon_variant,,ENST00000469606,;	518	171	209	SUCCESS
DISC1	27185	.	GRCh37	1	231931028	231931028	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	68	0	ENST00000439617.2:c.1675G>T	p.Glu559Ter	p.E559*	ENST00000439617	NM_001164540.1	559	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS53482.1	1675	MUTECT|MUSE	.	TTAAAGAAATC	NONE	.	.	Superfamily_domains:SSF46579,hmmpanther:PTHR14332:SF2,hmmpanther:PTHR14332,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000355593	.	7/10	.	.	.	.	.	.	.	.	COSM905536,COSM1340107,COSM905537	7/10	PASS	ENST00000366633	Transcript	.	.	ENSG00000162946	2888	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1,1	.	.	.	.	.	1,1,1	DISC1_HUMAN	DISC1	HGNC	C4P0C8_HUMAN	.	UPI0001A61692	SNV	DISC1,stop_gained,p.Glu559Ter,ENST00000539444,;DISC1,stop_gained,p.Glu559Ter,ENST00000439617,;DISC1,stop_gained,p.Glu559Ter,ENST00000535983,;DISC1,stop_gained,p.Glu559Ter,ENST00000602281,;DISC1,stop_gained,p.Glu559Ter,ENST00000366633,;DISC1,stop_gained,p.Glu559Ter,ENST00000366636,;DISC1,5_prime_UTR_variant,,ENST00000366637,;DISC1,intron_variant,,ENST00000602873,;DISC1,intron_variant,,ENST00000537876,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000602822,;DISC1,3_prime_UTR_variant,,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,3_prime_UTR_variant,,ENST00000602713,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;DISC1,3_prime_UTR_variant,,ENST00000535944,;DISC1,intron_variant,,ENST00000295051,;DISC1,intron_variant,,ENST00000602700,;	1728	68	80	SUCCESS
OR2L3	391192	.	GRCh37	1	248224001	248224001	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762996659	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	73	148	0	ENST00000359959.3:c.18A>T	p.Gln6His	p.Q6H	ENST00000359959	NM_001004687.1	6	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS31104.1	18	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAAACATC	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453	.	.	ENSP00000353044	.	1/1	.	.	.	.	.	.	.	.	rs762996659	1/1	PASS	ENST00000359959	Transcript	.	.	ENSG00000198128	15009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.19)	.	OR2L3_HUMAN	OR2L3	HGNC	.	.	UPI0000061EB8	SNV	OR2L3,missense_variant,p.Gln6His,ENST00000359959,;OR2L13,intron_variant,,ENST00000366478,;	18	148	165	SUCCESS
ST3GAL3	6487	.	GRCh37	1	44364940	44364940	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	94	0	ENST00000361392.4:c.557+5G>A		p.X186_splice	ENST00000361392	NM_006279.3	186		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS493.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAGCTCCC	NONE	.	.	.	.	.	ENSP00000262915	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262915	Transcript	.	.	ENSG00000126091	10866	.	.	LOW	9/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIAT6_HUMAN	ST3GAL3	HGNC	.	.	UPI000007440A	SNV	ST3GAL3,splice_region_variant,,ENST00000533933,;ST3GAL3,splice_region_variant,,ENST00000353126,;ST3GAL3,splice_region_variant,,ENST00000372375,;ST3GAL3,splice_region_variant,,ENST00000361746,;ST3GAL3,splice_region_variant,,ENST00000372374,;ST3GAL3,splice_region_variant,,ENST00000372372,;ST3GAL3,splice_region_variant,,ENST00000372367,;ST3GAL3,splice_region_variant,,ENST00000528371,;ST3GAL3,splice_region_variant,,ENST00000372368,;ST3GAL3,splice_region_variant,,ENST00000372369,;ST3GAL3,splice_region_variant,,ENST00000332628,;ST3GAL3,splice_region_variant,,ENST00000347631,;ST3GAL3,splice_region_variant,,ENST00000351035,;ST3GAL3,splice_region_variant,,ENST00000262915,;ST3GAL3,splice_region_variant,,ENST00000361400,;ST3GAL3,splice_region_variant,,ENST00000531993,;ST3GAL3,splice_region_variant,,ENST00000335430,;ST3GAL3,splice_region_variant,,ENST00000361392,;ST3GAL3,3_prime_UTR_variant,,ENST00000372366,;ST3GAL3,3_prime_UTR_variant,,ENST00000372365,;ST3GAL3,intron_variant,,ENST00000361812,;ST3GAL3,intron_variant,,ENST00000372377,;ST3GAL3,intron_variant,,ENST00000372362,;ST3GAL3,intron_variant,,ENST00000545417,;ST3GAL3,intron_variant,,ENST00000531451,;ST3GAL3,intron_variant,,ENST00000531816,;ST3GAL3,intron_variant,,ENST00000330208,;ST3GAL3,upstream_gene_variant,,ENST00000490502,;ST3GAL3,splice_region_variant,,ENST00000461375,;ST3GAL3,splice_region_variant,,ENST00000469715,;ST3GAL3,splice_region_variant,,ENST00000533997,;ST3GAL3,splice_region_variant,,ENST00000530581,;ST3GAL3,splice_region_variant,,ENST00000490541,;ST3GAL3,splice_region_variant,,ENST00000530154,;ST3GAL3,splice_region_variant,,ENST00000489897,;ST3GAL3,intron_variant,,ENST00000533212,;	.	94	90	SUCCESS
BPIFB4	149954	.	GRCh37	20	31672750	31672750	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs778947397	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	18	0	ENST00000375483.3:c.730G>T	p.Gly244Cys	p.G244C	ENST00000375483	NM_182519.2	244	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS13213.2	730	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGCCCGGCGTG	NONE	byFrequency	.	hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,Superfamily_domains:SSF55394	.	.	ENSP00000364632	.	4/16	.	.	.	.	.	.	.	.	rs778947397,COSM723075	4/16	PASS	ENST00000375483	Transcript	.	.	ENSG00000186191	16179	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1	BPIB4_HUMAN	BPIFB4	HGNC	.	.	UPI0000206190	SNV	BPIFB4,missense_variant,p.Gly244Cys,ENST00000375483,;BPIFB4,intron_variant,,ENST00000445356,;	730	18	14	SUCCESS
PLCG1	5335	.	GRCh37	20	39802162	39802162	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	47	0	ENST00000373271.1:c.3382A>G	p.Thr1128Ala	p.T1128A	ENST00000373271	NM_182811.1	1128	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS13313.1	3382	MUTECT|MUSE	.	AGAAGACAGAG	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF000952,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000362369	.	28/32	.	.	.	.	.	.	.	.	.	28/32	PASS	ENST00000373272	Transcript	.	.	ENSG00000124181	9065	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.728)	.	deleterious(0)	.	PLCG1_HUMAN	PLCG1	HGNC	.	.	UPI00001B94DD	SNV	PLCG1,missense_variant,p.Thr1128Ala,ENST00000373272,;PLCG1,missense_variant,p.Thr1128Ala,ENST00000244007,;PLCG1,missense_variant,p.Thr1128Ala,ENST00000373271,;ZHX3,downstream_gene_variant,,ENST00000540170,;ZHX3,downstream_gene_variant,,ENST00000309060,;ZHX3,downstream_gene_variant,,ENST00000421422,;PLCG1,non_coding_transcript_exon_variant,,ENST00000609821,;PLCG1,non_coding_transcript_exon_variant,,ENST00000608689,;PLCG1,missense_variant,p.Thr128Ala,ENST00000608885,;PLCG1,3_prime_UTR_variant,,ENST00000599785,;PLCG1,non_coding_transcript_exon_variant,,ENST00000461641,;PLCG1,upstream_gene_variant,,ENST00000609257,;PLCG1,downstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000607954,;	3787	47	43	SUCCESS
ZNF831	128611	.	GRCh37	20	57768444	57768444	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	29	74	0	ENST00000371030.2:c.2370A>G	p.Arg790=	p.R790=	ENST00000371030	NM_178457.2	790	cgA/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS42894.1	2370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGAGGTGT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,synonymous_variant,p.%3D,ENST00000371030,;	2370	74	69	SUCCESS
PLCB1	23236	.	GRCh37	20	8862417	8862417	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772366922	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	34	155	0	ENST00000338037.6:c.3572G>T	p.Gly1191Val	p.G1191V	ENST00000338037	NM_015192.3	1191	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS13102.1	3572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGAAAAG	NONE	byFrequency	.	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12	.	.	ENSP00000338185	.	32/32	.	.	.	.	.	.	.	.	rs772366922	32/32	PASS	ENST00000338037	Transcript	1	.	ENSG00000182621	15917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.109)	.	deleterious_low_confidence(0.04)	.	PLCB1_HUMAN	PLCB1	HGNC	.	.	UPI0000131A8F	SNV	PLCB1,missense_variant,p.Gly1191Val,ENST00000338037,;PLCB1,3_prime_UTR_variant,,ENST00000378641,;PLCB1,intron_variant,,ENST00000487210,;	3599	155	151	SUCCESS
PAK7	0	.	GRCh37	20	9520141	9520141	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs560752200	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	53	103	0	ENST00000353224.5:c.2128G>T	p.Val710Phe	p.V710F	ENST00000353224	NM_177990.2	710	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS13107.1	2128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGACGATGC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183	.	.	ENSP00000367686	.	11/11	.	.	.	.	.	.	.	.	rs560752200	11/11	PASS	ENST00000378429	Transcript	.	.	ENSG00000101349	15916	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	deleterious(0)	.	PAK7_HUMAN	PAK7	HGNC	Q9UJQ0_HUMAN	.	UPI0000035BAD	SNV	PAK7,missense_variant,p.Val710Phe,ENST00000378423,;PAK7,missense_variant,p.Val710Phe,ENST00000378429,;PAK7,missense_variant,p.Val710Phe,ENST00000353224,;	2675	103	109	SUCCESS
COL6A2	1292	.	GRCh37	21	47542411	47542411	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs954710683	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	22	91	0	ENST00000300527.4:c.1574G>A	p.Gly525Glu	p.G525E	ENST00000300527	NM_001849.3	525	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS13728.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGAGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF119	.	.	ENSP00000300527	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	SNV	COL6A2,missense_variant,p.Gly66Glu,ENST00000413758,;COL6A2,missense_variant,p.Gly525Glu,ENST00000397763,;COL6A2,missense_variant,p.Gly525Glu,ENST00000310645,;COL6A2,missense_variant,p.Gly525Glu,ENST00000300527,;COL6A2,missense_variant,p.Gly525Glu,ENST00000357838,;COL6A2,missense_variant,p.Gly525Glu,ENST00000409416,;COL6A2,downstream_gene_variant,,ENST00000485591,;	1678	92	102	SUCCESS
POTEH	23784	.	GRCh37	22	16267072	16267072	+	synonymous_variant	Silent	SNP	G	G	A	rs752752152	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	472	12	559	0	ENST00000343518.6:c.1377C>T	p.His459=	p.H459=	ENST00000343518	NM_001136213.1	459	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS46658.1	1377	MUTECT|MUSE	.	CTTCCGTGCTT	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	9/11	.	.	.	.	.	.	.	.	rs752752152	9/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,synonymous_variant,p.%3D,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1429	559	485	SUCCESS
POTEH	23784	.	GRCh37	22	16287459	16287459	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs750048334	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	436	97	666	0	ENST00000343518.6:c.427T>A	p.Phe143Ile	p.F143I	ENST00000343518	NM_001136213.1	143	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS46658.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAAGCAGT	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	1/11	.	.	.	.	.	.	.	.	rs750048334,COSM3964048	1/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.064)	.	deleterious_low_confidence(0.01)	0,1	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Phe143Ile,ENST00000343518,;POTEH,missense_variant,p.Phe87Ile,ENST00000452800,;	479	666	533	SUCCESS
SF3A1	10291	.	GRCh37	22	30733037	30733037	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	103	0	ENST00000215793.8:c.2084A>T	p.Glu695Val	p.E695V	ENST00000215793	NM_005877.4	695	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS13875.1	2084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCTCCTCT	NONE	.	.	hmmpanther:PTHR15316,Superfamily_domains:SSF54236	.	.	ENSP00000215793	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000215793	Transcript	.	.	ENSG00000099995	10765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.417)	.	tolerated(0.05)	.	SF3A1_HUMAN	SF3A1	HGNC	.	.	UPI0000000C88	SNV	SF3A1,missense_variant,p.Glu695Val,ENST00000215793,;SF3A1,missense_variant,p.Glu630Val,ENST00000439242,;SF3A1,downstream_gene_variant,,ENST00000444440,;SF3A1,downstream_gene_variant,,ENST00000411423,;SF3A1,downstream_gene_variant,,ENST00000498259,;SF3A1,downstream_gene_variant,,ENST00000485618,;	2239	103	98	SUCCESS
APOBEC3D	140564	.	GRCh37	22	39421641	39421641	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	108	0	ENST00000216099.8:c.570T>C	p.Tyr190=	p.Y190=	ENST00000216099	NM_152426.3	190	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS46709.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTATGCATC	NONE	.	.	hmmpanther:PTHR13857:SF24,hmmpanther:PTHR13857,Pfam_domain:PF08210	.	.	ENSP00000216099	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000216099	Transcript	.	.	ENSG00000243811	17354	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABC3D_HUMAN	APOBEC3D	HGNC	B2CML4_HUMAN	.	UPI000006D7ED	SNV	APOBEC3D,synonymous_variant,p.%3D,ENST00000381568,;APOBEC3D,synonymous_variant,p.%3D,ENST00000216099,;APOBEC3D,intron_variant,,ENST00000427494,;	977	108	103	SUCCESS
DNAJB7	150353	.	GRCh37	22	41257117	41257117	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	60	136	0	ENST00000307221.4:c.882A>C	p.Lys294Asn	p.K294N	ENST00000307221	NM_145174.1	294	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS14008.1	882	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTTTTTT	BUFFER|p.K295fs*>15|c.884delA|4	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000307197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307221	Transcript	.	.	ENSG00000172404	24986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.04)	.	DNJB7_HUMAN	DNAJB7	HGNC	.	.	UPI000006FBAD	SNV	DNAJB7,missense_variant,p.Lys294Asn,ENST00000307221,;XPNPEP3,intron_variant,,ENST00000357137,;XPNPEP3,intron_variant,,ENST00000414396,;XPNPEP3,intron_variant,,ENST00000541156,;ST13,upstream_gene_variant,,ENST00000216218,;XPNPEP3,upstream_gene_variant,,ENST00000544094,;XPNPEP3,intron_variant,,ENST00000482652,;XPNPEP3,upstream_gene_variant,,ENST00000465258,;XPNPEP3,intron_variant,,ENST00000417688,;XPNPEP3,intron_variant,,ENST00000428799,;ST13,upstream_gene_variant,,ENST00000455824,;	1014	136	153	SUCCESS
WIPF1	7456	.	GRCh37	2	175436394	175436394	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	11	105	0	ENST00000359761.3:c.1129+10G>T		p.*377*	ENST00000359761				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2260.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTCTTGTC	NONE	.	.	.	.	.	ENSP00000376330	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392547	Transcript	.	.	ENSG00000115935	12736	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPF1_HUMAN	WIPF1	HGNC	C9JTB9_HUMAN	.	UPI000013D4BD	SNV	WIPF1,missense_variant,p.Arg380Ile,ENST00000409415,;WIPF1,intron_variant,,ENST00000359761,;WIPF1,intron_variant,,ENST00000392547,;WIPF1,intron_variant,,ENST00000409891,;WIPF1,intron_variant,,ENST00000272746,;WIPF1,intron_variant,,ENST00000392546,;WIPF1,downstream_gene_variant,,ENST00000436221,;WIPF1,downstream_gene_variant,,ENST00000455428,;WIPF1,downstream_gene_variant,,ENST00000410117,;AC018890.6,intron_variant,,ENST00000412835,;AC018890.6,intron_variant,,ENST00000442996,;AC010894.5,upstream_gene_variant,,ENST00000454203,;WIPF1,upstream_gene_variant,,ENST00000467149,;	.	105	78	SUCCESS
CWC22	57703	.	GRCh37	2	180853328	180853332	+	frameshift_variant	Frame_Shift_Del	DEL	TGATA	TGATA	-	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	TGATA	TGATA	.	.	.	.	.	.	.	.	.	.	.	.	.	145	13	181	0	ENST00000410053.3:c.67_71del	p.Tyr23GlufsTer10	p.Y23Efs*10	ENST00000410053	NM_020943.2	23	TATCAg/g	0	.	.	.	.	.	-	YQ/X	protein_coding	YES	CCDS46465.1	67-71	INDELOCATOR*|PINDEL	.	TTCCTCTGATATGAAT	NONE	.	.	hmmpanther:PTHR18034:SF3,hmmpanther:PTHR18034	.	.	ENSP00000387006	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000410053	Transcript	.	.	ENSG00000163510	29322	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CWC22_HUMAN	CWC22	HGNC	B7WP74_HUMAN	.	UPI00001C1DAE	deletion	CWC22,frameshift_variant,p.Tyr23GlufsTer10,ENST00000404136,;CWC22,frameshift_variant,p.Tyr23GlufsTer10,ENST00000410053,;CWC22,frameshift_variant,p.Tyr23GlufsTer10,ENST00000295749,;	367-371	181	158	SUCCESS
STAT1	6772	.	GRCh37	2	191841668	191841668	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	53	118	0	ENST00000361099.3:c.1957G>C	p.Val653Leu	p.V653L	ENST00000361099	NM_007315.3	653	Gtc/Ctc	0	.	.	.	.	.	G	V/L	protein_coding	YES	CCDS2309.1	1957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGACTTTGT	NONE	.	.	Superfamily_domains:SSF55550,Gene3D:3.30.505.10,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF18,PROSITE_profiles:PS50001	.	.	ENSP00000354394	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000361099	Transcript	.	.	ENSG00000115415	11362	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.27)	.	STAT1_HUMAN	STAT1	HGNC	Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN	.	UPI00000473FB	SNV	STAT1,missense_variant,p.Val655Leu,ENST00000392323,;STAT1,missense_variant,p.Val653Leu,ENST00000392322,;STAT1,missense_variant,p.Val653Leu,ENST00000361099,;STAT1,missense_variant,p.Val653Leu,ENST00000409465,;STAT1,3_prime_UTR_variant,,ENST00000540176,;STAT1,3_prime_UTR_variant,,ENST00000452281,;STAT1,downstream_gene_variant,,ENST00000464072,;STAT1,upstream_gene_variant,,ENST00000415035,;STAT1,upstream_gene_variant,,ENST00000423282,;	2345	118	96	SUCCESS
MYT1L	23040	.	GRCh37	2	1926072	1926072	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	23	94	0	ENST00000399161.2:c.1469C>A	p.Pro490Gln	p.P490Q	ENST00000399161	NM_015025.2	490	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS46222.1	1469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGGCTTT	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.726)	.	tolerated(0.1)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Pro490Gln,ENST00000399161,;MYT1L,missense_variant,p.Pro490Gln,ENST00000428368,;MYT1L,missense_variant,p.Pro144Gln,ENST00000602387,;	2139	94	113	SUCCESS
C2orf62	0	.	GRCh37	2	219225307	219225307	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	39	0	ENST00000289388.3:c.387C>T	p.Leu129=	p.L129=	ENST00000289388	NM_198559.1	129	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2414.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTCCCCAT	NONE	.	.	hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2	.	.	ENSP00000289388	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000289388	Transcript	.	.	ENSG00000158428	25062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB062_HUMAN	C2orf62	HGNC	.	.	UPI000019B2D3	SNV	C2orf62,synonymous_variant,p.%3D,ENST00000289388,;AC021016.8,upstream_gene_variant,,ENST00000411433,;C2orf62,non_coding_transcript_exon_variant,,ENST00000481940,;C2orf62,non_coding_transcript_exon_variant,,ENST00000495773,;C2orf62,upstream_gene_variant,,ENST00000494447,;C2orf62,downstream_gene_variant,,ENST00000480532,;	416	39	35	SUCCESS
NDUFA10	4705	.	GRCh37	2	240946749	240946749	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	70	0	ENST00000252711.2:c.788C>A	p.Ala263Asp	p.A263D	ENST00000252711	NM_004544.3	263	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS2531.1	788	MUTECT|MUSE|VARSCANS	.	CTTGAGCTTCC	NONE	.	.	hmmpanther:PTHR10513,hmmpanther:PTHR10513:SF15,Pfam_domain:PF01712,Gene3D:3.40.50.300,PIRSF_domain:PIRSF000543,Superfamily_domains:SSF52540	.	.	ENSP00000252711	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000252711	Transcript	.	.	ENSG00000130414	7684	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.845)	.	tolerated(0.06)	.	NDUAA_HUMAN	NDUFA10	HGNC	Q53SW4_HUMAN,Q53QE8_HUMAN	.	UPI000013090A	SNV	NDUFA10,missense_variant,p.Ala293Asp,ENST00000307300,;NDUFA10,missense_variant,p.Leu196Ile,ENST00000443626,;NDUFA10,missense_variant,p.Ala263Asp,ENST00000404554,;NDUFA10,missense_variant,p.Ala34Asp,ENST00000444548,;NDUFA10,missense_variant,p.Ala263Asp,ENST00000252711,;NDUFA10,missense_variant,p.Ala26Asp,ENST00000448880,;NDUFA10,missense_variant,p.Ala28Asp,ENST00000419408,;NDUFA10,non_coding_transcript_exon_variant,,ENST00000476216,;NDUFA10,non_coding_transcript_exon_variant,,ENST00000485344,;	889	70	53	SUCCESS
TLX2	3196	.	GRCh37	2	74741909	74741909	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	68	169	0	ENST00000233638.7:c.-25C>T		p.*9*	ENST00000233638	NM_016170.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1947.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCGGCGG	NONE	.	.	.	.	.	ENSP00000233638	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000233638	Transcript	.	.	ENSG00000115297	5057	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLX2_HUMAN	TLX2	HGNC	.	.	UPI0000137060	SNV	TLX2,5_prime_UTR_variant,,ENST00000233638,;DQX1,downstream_gene_variant,,ENST00000404568,;DQX1,downstream_gene_variant,,ENST00000393951,;TLX2,intron_variant,,ENST00000497238,;DQX1,downstream_gene_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;DQX1,downstream_gene_variant,,ENST00000473508,;	299	169	187	SUCCESS
P2RY1	5028	.	GRCh37	3	152554423	152554423	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	40	106	0	ENST00000305097.3:c.852G>C	p.Leu284Phe	p.L284F	ENST00000305097	NM_002563.3	284	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS3169.1	852	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGAGGGC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00595	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.824)	.	deleterious(0.01)	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,missense_variant,p.Leu284Phe,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	1688	106	84	SUCCESS
ZNF385D	79750	.	GRCh37	3	21462743	21462743	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780010347	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	72	1	ENST00000281523.2:c.1151G>A	p.Arg384Gln	p.R384Q	ENST00000281523	NM_024697.2	384	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS2636.1	1151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCCGAATG	NONE	.	.	hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12	.	.	ENSP00000281523	.	8/8	.	.	.	.	.	.	.	.	rs780010347	8/8	PASS	ENST00000281523	Transcript	.	.	ENSG00000151789	26191	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.885)	.	deleterious(0)	.	Z385D_HUMAN	ZNF385D	HGNC	.	.	UPI00000724AC	SNV	ZNF385D,missense_variant,p.Arg384Gln,ENST00000281523,;ZNF385D,downstream_gene_variant,,ENST00000467140,;	1670	73	59	SUCCESS
NKTR	4820	.	GRCh37	3	42672063	42672063	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	131	0	ENST00000232978.8:c.400G>C	p.Asp134His	p.D134H	ENST00000232978	NM_005385.3	134	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS2702.1	400	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGATGGG	NONE	.	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071:SF30,hmmpanther:PTHR11071,Gene3D:2.40.100.10,Pfam_domain:PF00160,Superfamily_domains:SSF50891,Prints_domain:PR00153	.	.	ENSP00000232978	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000232978	Transcript	.	.	ENSG00000114857	7833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	NKTR_HUMAN	NKTR	HGNC	.	.	UPI00001301FD	SNV	NKTR,missense_variant,p.Asp134His,ENST00000232978,;RP4-613B23.1,intron_variant,,ENST00000445452,;RP4-613B23.1,intron_variant,,ENST00000438017,;RP4-613B23.1,downstream_gene_variant,,ENST00000434363,;NKTR,3_prime_UTR_variant,,ENST00000429888,;NKTR,non_coding_transcript_exon_variant,,ENST00000465584,;NKTR,non_coding_transcript_exon_variant,,ENST00000466553,;NKTR,non_coding_transcript_exon_variant,,ENST00000468735,;NKTR,non_coding_transcript_exon_variant,,ENST00000498730,;NKTR,upstream_gene_variant,,ENST00000508351,;NKTR,upstream_gene_variant,,ENST00000464315,;NKTR,upstream_gene_variant,,ENST00000472258,;NKTR,upstream_gene_variant,,ENST00000460807,;NKTR,upstream_gene_variant,,ENST00000472127,;NKTR,downstream_gene_variant,,ENST00000478488,;NKTR,downstream_gene_variant,,ENST00000487466,;	588	131	81	SUCCESS
APEH	327	.	GRCh37	3	49720485	49720485	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	24	93	0	ENST00000296456.5:c.1999C>T	p.Leu667=	p.L667=	ENST00000296456	NM_001640.3	667	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS2801.1	1999	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCACTGTTA	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF108,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000296456	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000296456	Transcript	.	.	ENSG00000164062	586	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACPH_HUMAN	APEH	HGNC	C9JLK2_HUMAN	.	UPI00000735A1	SNV	APEH,synonymous_variant,p.%3D,ENST00000296456,;APEH,synonymous_variant,p.%3D,ENST00000438011,;MST1,downstream_gene_variant,,ENST00000448220,;APEH,downstream_gene_variant,,ENST00000442186,;MST1,downstream_gene_variant,,ENST00000449682,;MST1,downstream_gene_variant,,ENST00000383728,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,downstream_gene_variant,,ENST00000494828,;APEH,non_coding_transcript_exon_variant,,ENST00000480772,;MST1,downstream_gene_variant,,ENST00000494809,;MST1,downstream_gene_variant,,ENST00000488350,;APEH,downstream_gene_variant,,ENST00000446089,;APEH,downstream_gene_variant,,ENST00000469362,;MST1,downstream_gene_variant,,ENST00000484144,;MST1,downstream_gene_variant,,ENST00000492370,;APEH,downstream_gene_variant,,ENST00000447436,;AC099668.5,downstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,downstream_gene_variant,,ENST00000498021,;MST1,downstream_gene_variant,,ENST00000479115,;MST1,downstream_gene_variant,,ENST00000484269,;MST1,downstream_gene_variant,,ENST00000489007,;MST1,downstream_gene_variant,,ENST00000497359,;APEH,downstream_gene_variant,,ENST00000447541,;MST1,downstream_gene_variant,,ENST00000481930,;MST1,downstream_gene_variant,,ENST00000468847,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,downstream_gene_variant,,ENST00000493836,;MST1,downstream_gene_variant,,ENST00000480268,;MST1,downstream_gene_variant,,ENST00000492329,;APEH,downstream_gene_variant,,ENST00000482301,;	2399	93	54	SUCCESS
SYNPO2	171024	.	GRCh37	4	119951206	119951206	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	86	134	0	ENST00000429713.2:c.1276G>C	p.Glu426Gln	p.E426Q	ENST00000429713	NM_001128933.1	426	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS34054.1	1276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGAAGGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24217:SF9,hmmpanther:PTHR24217	.	.	ENSP00000306015	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	deleterious(0.05)	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,missense_variant,p.Glu426Gln,ENST00000434046,;SYNPO2,missense_variant,p.Glu426Gln,ENST00000307142,;SYNPO2,missense_variant,p.Glu426Gln,ENST00000429713,;SYNPO2,missense_variant,p.Glu378Gln,ENST00000504178,;SYNPO2,intron_variant,,ENST00000448416,;	1472	134	116	SUCCESS
UCP1	7350	.	GRCh37	4	141489132	141489132	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	29	48	0	ENST00000262999.3:c.127-1G>A		p.X43_splice	ENST00000262999	NM_021833.4	43		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3753.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACCTGGAA	NONE	.	.	.	.	.	ENSP00000262999	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262999	Transcript	.	.	ENSG00000109424	12517	.	.	HIGH	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCP1_HUMAN	UCP1	HGNC	Q4KMT7_HUMAN	.	UPI000003627B	SNV	UCP1,splice_acceptor_variant,,ENST00000262999,;	.	48	39	SUCCESS
FBXL5	26234	.	GRCh37	4	15656911	15656911	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	79	0	ENST00000341285.3:c.-1G>C		p.*1*	ENST00000341285	NM_001193534.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3415.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCATCGCCAC	NONE	.	.	.	.	.	ENSP00000344866	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000341285	Transcript	.	.	ENSG00000118564	13602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL5_HUMAN	FBXL5	HGNC	D6RHC3_HUMAN,D6RCR7_HUMAN,D6RBW7_HUMAN,D6RB50_HUMAN	.	UPI0000035C83	SNV	FBXL5,5_prime_UTR_variant,,ENST00000382358,;FBXL5,5_prime_UTR_variant,,ENST00000412094,;FBXL5,5_prime_UTR_variant,,ENST00000341285,;FBXL5,intron_variant,,ENST00000515679,;FBXL5,intron_variant,,ENST00000503196,;FBXL5,intron_variant,,ENST00000509314,;FBXL5,intron_variant,,ENST00000510802,;FBXL5,intron_variant,,ENST00000507899,;FBXL5,downstream_gene_variant,,ENST00000514541,;FBXL5,5_prime_UTR_variant,,ENST00000511441,;FBXL5,non_coding_transcript_exon_variant,,ENST00000504837,;FBXL5,non_coding_transcript_exon_variant,,ENST00000507700,;	125	79	53	SUCCESS
ADRA2C	152	.	GRCh37	4	3768933	3768933	+	synonymous_variant	Silent	SNP	G	G	A	rs762543294	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	35	0	ENST00000330055.5:c.600G>A	p.Pro200=	p.P200=	ENST00000330055	NM_000683.3	200	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS47004.1	600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCGCAGTG	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF25,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000386069	.	1/1	.	.	.	.	.	.	.	.	rs762543294	1/1	PASS	ENST00000330055	Transcript	.	.	ENSG00000184160	283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA2C_HUMAN	ADRA2C	HGNC	Q4W594_HUMAN	.	UPI000012500C	SNV	ADRA2C,synonymous_variant,p.%3D,ENST00000509482,;ADRA2C,synonymous_variant,p.%3D,ENST00000330055,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	809	35	16	SUCCESS
UGT2B4	7363	.	GRCh37	4	70351040	70351040	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	335	68	291	1	ENST00000305107.6:c.1196A>C	p.Gln399Pro	p.Q399P	ENST00000305107	NM_021139.2	399	cAa/cCa	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS43234.1	1196	RADIA|SOMATICSNIPER|VARSCANS	.	CAGGTTGATCT	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,PROSITE_patterns:PS00375,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	SNV	UGT2B4,missense_variant,p.Gln399Pro,ENST00000305107,;UGT2B4,missense_variant,p.Gln263Pro,ENST00000381096,;UGT2B4,intron_variant,,ENST00000512583,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000506580,;UGT2B4,downstream_gene_variant,,ENST00000503836,;	1243	292	403	SUCCESS
UGT2B4	7363	.	GRCh37	4	70359471	70359471	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	54	81	0	ENST00000305107.6:c.810C>G	p.Leu270=	p.L270=	ENST00000305107	NM_021139.2	270	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS43234.1	810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTAAGAGTGG	NONE	.	.	hmmpanther:PTHR11926:SF123,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000305221	.	2/6	.	.	.	.	.	.	.	.	COSM3702627,COSM3775949	2/6	PASS	ENST00000305107	Transcript	.	.	ENSG00000156096	12553	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	UD2B4_HUMAN	UGT2B4	HGNC	D6RGY0_HUMAN	.	UPI000000087F	SNV	UGT2B4,synonymous_variant,p.%3D,ENST00000305107,;UGT2B4,synonymous_variant,p.%3D,ENST00000512583,;UGT2B4,synonymous_variant,p.%3D,ENST00000381096,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000503836,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;	857	81	100	SUCCESS
TSLP	85480	.	GRCh37	5	110409224	110409224	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	185	39	285	0	ENST00000344895.3:c.232G>T	p.Glu78Ter	p.E78*	ENST00000344895	NM_033035.4	78	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4101.1	232	RADIA|MUTECT|MUSE|VARSCANS	.	TTACTGAAATC	NONE	.	.	Pfam_domain:PF15216	.	.	ENSP00000339804	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000344895	Transcript	.	.	ENSG00000145777	30743	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSLP_HUMAN	TSLP	HGNC	Q96AU7_HUMAN,G3XAM8_HUMAN	.	UPI000006DB21	SNV	TSLP,stop_gained,p.Glu78Ter,ENST00000420978,;TSLP,stop_gained,p.Glu78Ter,ENST00000344895,;TSLP,5_prime_UTR_variant,,ENST00000379706,;CTC-551A13.2,downstream_gene_variant,,ENST00000507269,;	431	285	224	SUCCESS
FBN2	2201	.	GRCh37	5	127680141	127680141	+	synonymous_variant	Silent	SNP	G	G	T	rs142809999	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	16	116	0	ENST00000262464.4:c.3279C>A	p.Ile1093=	p.I1093=	ENST00000262464	NM_001999.3	1093	atC/atA	0	.	A:0	.	A:0	.	T	I	protein_coding	YES	CCDS34222.1	3279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCGATTGT	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57184,SMART_domains:SM00179,PIRSF_domain:PIRSF036312,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,PROSITE_profiles:PS50026	A:0	.	ENSP00000424571	A:0.001	31/71	.	.	.	.	.	.	.	.	rs142809999	31/71	PASS	ENST00000508053	Transcript	1	A:0.0002	ENSG00000138829	3604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,synonymous_variant,p.%3D,ENST00000262464,;FBN2,synonymous_variant,p.%3D,ENST00000508053,;FBN2,synonymous_variant,p.%3D,ENST00000508989,;	4254	116	70	SUCCESS
DNAH5	1767	.	GRCh37	5	13788992	13788992	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	109	131	0	ENST00000265104.4:c.8480A>G	p.Lys2827Arg	p.K2827R	ENST00000265104	NM_001369.2	2827	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS3882.1	8480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGTTTACAC	NONE	.	.	Superfamily_domains:SSF52540,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	51/79	.	.	.	.	.	.	.	.	.	51/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.292)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Lys2827Arg,ENST00000265104,;	8585	131	177	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60831392	60831392	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs557637276	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	86	0	ENST00000252744.5:c.2327C>G	p.Ser776Cys	p.S776C	ENST00000252744	NM_020928.1	776	tCt/tGt	0	.	G:0	.	G:0	.	G	S/C	protein_coding	YES	CCDS47215.1	2327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCTCTCC	NONE	by1000G	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	G:0.001	.	ENSP00000252744	G:0	10/14	.	.	.	.	.	.	.	.	rs557637276	10/14	PASS	ENST00000252744	Transcript	1	G:0.0002	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	G:0	deleterious(0)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Ser776Cys,ENST00000252744,;	2327	86	81	SUCCESS
GRIK2	2898	.	GRCh37	6	102134211	102134211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	13	112	0	ENST00000421544.1:c.934C>A	p.Leu312Met	p.L312M	ENST00000421544	NM_021956.4	312	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS5048.1	934	RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGCTGGAT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	.	.	ENSP00000397026	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000421544	Transcript	.	.	ENSG00000164418	4580	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.905)	.	tolerated(0.1)	.	GRIK2_HUMAN	GRIK2	HGNC	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN	.	UPI000012B617	SNV	GRIK2,missense_variant,p.Leu312Met,ENST00000369138,;GRIK2,missense_variant,p.Leu312Met,ENST00000413795,;GRIK2,missense_variant,p.Leu263Met,ENST00000369134,;GRIK2,missense_variant,p.Leu312Met,ENST00000369137,;GRIK2,missense_variant,p.Leu312Met,ENST00000318991,;GRIK2,missense_variant,p.Leu312Met,ENST00000421544,;GRIK2,missense_variant,p.Leu312Met,ENST00000358361,;GRIK2,intron_variant,,ENST00000455610,;	1424	112	107	SUCCESS
FIG4	9896	.	GRCh37	6	110107511	110107511	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	50	0	ENST00000230124.3:c.1955G>C	p.Cys652Ser	p.C652S	ENST00000230124	NM_014845.5	652	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS5078.1	1955	MUTECT|MUSE	.	TATCTGTGCTG	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9	.	.	ENSP00000230124	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000230124	Transcript	.	.	ENSG00000112367	16873	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(1)	.	FIG4_HUMAN	FIG4	HGNC	Q5TCS4_HUMAN,Q5JRV4_HUMAN	.	UPI000000D9A3	SNV	FIG4,missense_variant,p.Cys375Ser,ENST00000441478,;FIG4,missense_variant,p.Cys652Ser,ENST00000230124,;FIG4,5_prime_UTR_variant,,ENST00000419951,;FIG4,downstream_gene_variant,,ENST00000415980,;	2079	50	58	SUCCESS
ARID1B	57492	.	GRCh37	6	157522371	157522371	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	41	0	ENST00000346085.5:c.4643A>G	p.Asn1548Ser	p.N1548S	ENST00000346085	NM_020732.3	1548	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS55072.1	4643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAATCACA	NONE	.	.	hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656	.	.	ENSP00000344546	.	18/20	.	.	.	.	.	.	.	.	.	18/20	PASS	ENST00000346085	Transcript	.	.	ENSG00000049618	18040	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	.	.	ARI1B_HUMAN	ARID1B	HGNC	.	.	UPI000058E4B2	SNV	ARID1B,missense_variant,p.Asn1588Ser,ENST00000367148,;ARID1B,missense_variant,p.Asn1535Ser,ENST00000350026,;ARID1B,missense_variant,p.Asn1057Ser,ENST00000414678,;ARID1B,missense_variant,p.Asn1530Ser,ENST00000275248,;ARID1B,missense_variant,p.Asn1548Ser,ENST00000346085,;	4644	41	47	SUCCESS
TCP1	6950	.	GRCh37	6	160210550	160210550	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs748811247	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	18	193	0	ENST00000321394.7:c.-50C>G		p.*17*	ENST00000321394	NM_030752.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5269.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGTATCG	NONE	.	.	.	.	.	ENSP00000317334	.	1/12	.	.	.	.	.	.	.	.	rs748811247	1/12	PASS	ENST00000321394	Transcript	.	.	ENSG00000120438	11655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCPA_HUMAN	TCP1	HGNC	F5H726_HUMAN,F5H676_HUMAN,F5H282_HUMAN,F5H136_HUMAN,E7EQR6_HUMAN	.	UPI0000136AEA	SNV	TCP1,5_prime_UTR_variant,,ENST00000392168,;TCP1,5_prime_UTR_variant,,ENST00000544255,;TCP1,5_prime_UTR_variant,,ENST00000321394,;TCP1,5_prime_UTR_variant,,ENST00000538128,;TCP1,5_prime_UTR_variant,,ENST00000537390,;TCP1,5_prime_UTR_variant,,ENST00000539756,;TCP1,5_prime_UTR_variant,,ENST00000420894,;TCP1,upstream_gene_variant,,ENST00000536394,;MRPL18,upstream_gene_variant,,ENST00000367034,;TCP1,upstream_gene_variant,,ENST00000539948,;SNORA29,upstream_gene_variant,,ENST00000384183,;TCP1,non_coding_transcript_exon_variant,,ENST00000543532,;TCP1,non_coding_transcript_exon_variant,,ENST00000546023,;MRPL18,upstream_gene_variant,,ENST00000476826,;MRPL18,upstream_gene_variant,,ENST00000479638,;MRPL18,upstream_gene_variant,,ENST00000480842,;TCP1,5_prime_UTR_variant,,ENST00000538530,;TCP1,5_prime_UTR_variant,,ENST00000543517,;TCP1,non_coding_transcript_exon_variant,,ENST00000536607,;TCP1,upstream_gene_variant,,ENST00000467544,;TCP1,upstream_gene_variant,,ENST00000545764,;TCP1,upstream_gene_variant,,ENST00000536807,;	232	193	186	SUCCESS
MLLT4	0	.	GRCh37	6	168366667	168366667	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	18	30	0	ENST00000447894.2:c.5178C>T	p.Phe1726=	p.F1726=	ENST00000447894		1726	ttC/ttT	0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47517.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCACTGC	NONE	.	1691	.	.	.	ENSP00000375956	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392108	Transcript	.	.	ENSG00000130396	7137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AFAD_HUMAN	MLLT4	HGNC	.	.	UPI0000711FD9	SNV	MLLT4,synonymous_variant,p.%3D,ENST00000507704,;MLLT4,synonymous_variant,p.%3D,ENST00000351017,;MLLT4,synonymous_variant,p.%3D,ENST00000447894,;MLLT4,synonymous_variant,p.%3D,ENST00000485634,;MLLT4,synonymous_variant,p.%3D,ENST00000400822,;MLLT4,synonymous_variant,p.%3D,ENST00000366806,;MLLT4,intron_variant,,ENST00000392112,;MLLT4,downstream_gene_variant,,ENST00000392108,;MLLT4,upstream_gene_variant,,ENST00000515794,;MLLT4,downstream_gene_variant,,ENST00000476946,;MLLT4,downstream_gene_variant,,ENST00000344191,;MLLT4,upstream_gene_variant,,ENST00000486649,;MLLT4,upstream_gene_variant,,ENST00000511503,;MLLT4,downstream_gene_variant,,ENST00000511637,;	.	30	34	SUCCESS
ACOT13	55856	.	GRCh37	6	24667469	24667469	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs777989022	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	46	91	0	ENST00000230048.4:c.-23C>G		p.*8*	ENST00000230048	NM_018473.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCCAAAGG	NONE	byFrequency	.	.	.	.	ENSP00000230048	.	1/3	.	.	.	.	.	.	.	.	rs777989022	1/3	PASS	ENST00000230048	Transcript	.	.	ENSG00000112304	20999	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACO13_HUMAN	ACOT13	HGNC	.	.	UPI0000131D18	SNV	ACOT13,5_prime_UTR_variant,,ENST00000230048,;ACOT13,5_prime_UTR_variant,,ENST00000537591,;TDP2,upstream_gene_variant,,ENST00000545995,;TDP2,upstream_gene_variant,,ENST00000341060,;TDP2,upstream_gene_variant,,ENST00000378198,;TDP2,upstream_gene_variant,,ENST00000478507,;TDP2,upstream_gene_variant,,ENST00000480495,;	171	91	129	SUCCESS
RIPK1	8737	.	GRCh37	6	3106166	3106166	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	102	192	0	ENST00000259808.4:c.1457C>T	p.Pro486Leu	p.P486L	ENST00000259808		486	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS4482.1	1457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCCAGAG	NONE	.	.	.	.	.	ENSP00000259808	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000259808	Transcript	.	.	ENSG00000137275	10019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.11)	.	RIPK1_HUMAN	RIPK1	HGNC	.	.	UPI000000DC95	SNV	RIPK1,missense_variant,p.Pro486Leu,ENST00000259808,;RIPK1,missense_variant,p.Pro486Leu,ENST00000380409,;RIPK1,missense_variant,p.Pro440Leu,ENST00000541791,;RIPK1,non_coding_transcript_exon_variant,,ENST00000479389,;	1755	192	235	SUCCESS
LGSN	51557	.	GRCh37	6	64004842	64004842	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	45	120	0	ENST00000370657.4:c.139G>A	p.Glu47Lys	p.E47K	ENST00000370657		47	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS4964.1	139	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTCTCCCA	NONE	.	.	hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	.	.	ENSP00000359691	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000370657	Transcript	.	.	ENSG00000146166	21016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	.	tolerated_low_confidence(0.32)	.	LGSN_HUMAN	LGSN	HGNC	.	.	UPI000013DA35	SNV	LGSN,missense_variant,p.Glu47Lys,ENST00000485906,;LGSN,missense_variant,p.Glu47Lys,ENST00000370658,;LGSN,missense_variant,p.Glu47Lys,ENST00000370657,;	173	120	120	SUCCESS
MYO6	4646	.	GRCh37	6	76527267	76527267	+	start_lost	Translation_Start_Site	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	42	88	0	ENST00000369977.3:c.3G>A	p.Met1?	p.M1?	ENST00000369977	NM_004999.3	1	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS34487.1	3	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGGAGGA	NONE	.	.	hmmpanther:PTHR13140:SF346,hmmpanther:PTHR13140	.	.	ENSP00000358994	.	2/35	.	.	.	.	.	.	.	.	.	2/35	PASS	ENST00000369977	Transcript	.	.	ENSG00000196586	7605	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	deleterious(0.01)	.	MYO6_HUMAN	MYO6	HGNC	Q14784_HUMAN	.	UPI00000727CF	SNV	MYO6,start_lost,p.Met1?,ENST00000369985,;MYO6,start_lost,p.Met1?,ENST00000369977,;MYO6,start_lost,p.Met1?,ENST00000369981,;MYO6,start_lost,p.Met1?,ENST00000369975,;	142	88	89	SUCCESS
GPR63	81491	.	GRCh37	6	97246394	97246394	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762800138	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	66	151	0	ENST00000229955.3:c.1214G>A	p.Arg405His	p.R405H	ENST00000229955	NM_030784.3	405	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS5036.1	1214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGACGTATC	NONE	byFrequency	.	hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	rs762800138	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	deleterious(0.01)	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,missense_variant,p.Arg405His,ENST00000417980,;GPR63,missense_variant,p.Arg405His,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	1560	151	154	SUCCESS
ATP6V0A4	50617	.	GRCh37	7	138394421	138394421	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs772521237	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	67	200	0	ENST00000310018.2:c.2377C>G	p.Leu793Val	p.L793V	ENST00000310018	NM_020632.2	793	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS5849.1	2377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAAGGATGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000308122	.	21/22	.	.	.	.	.	.	.	.	rs772521237	21/22	PASS	ENST00000310018	Transcript	.	.	ENSG00000105929	866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	VPP4_HUMAN	ATP6V0A4	HGNC	.	.	UPI000013CDFD	SNV	ATP6V0A4,missense_variant,p.Leu793Val,ENST00000310018,;ATP6V0A4,missense_variant,p.Leu793Val,ENST00000393054,;ATP6V0A4,missense_variant,p.Leu793Val,ENST00000353492,;	2660	200	144	SUCCESS
OR9A2	135924	.	GRCh37	7	142723964	142723964	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	22	154	0	ENST00000350513.2:c.256T>C	p.Phe86Leu	p.F86L	ENST00000350513	NM_001001658.1	86	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS34767.1	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAAGAGCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF126,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000316518	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000350513	Transcript	.	.	ENSG00000179468	15093	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.74)	.	OR9A2_HUMAN	OR9A2	HGNC	A4D2H9_HUMAN	.	UPI0000041C18	SNV	OR9A2,missense_variant,p.Phe86Leu,ENST00000350513,;	319	154	96	SUCCESS
KRBA1	84626	.	GRCh37	7	149416623	149416623	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	27	0	ENST00000319551.8:c.-106-1G>T		p.X36_splice	ENST00000319551		36		0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CCGGAGACTGT	NONE	.	.	.	.	.	ENSP00000255992	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000255992	Transcript	.	.	ENSG00000133619	22228	.	.	HIGH	1/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KRBA1	HGNC	C9J5U6_HUMAN,C4P1W5_HUMAN	.	UPI000049E0A4	SNV	KRBA1,splice_acceptor_variant,,ENST00000319551,;KRBA1,splice_acceptor_variant,,ENST00000255992,;KRBA1,5_prime_UTR_variant,,ENST00000497895,;KRBA1,intron_variant,,ENST00000486744,;KRBA1,upstream_gene_variant,,ENST00000485033,;KRBA1,upstream_gene_variant,,ENST00000467333,;KRBA1,splice_acceptor_variant,,ENST00000479560,;KRBA1,intron_variant,,ENST00000466546,;KRBA1,upstream_gene_variant,,ENST00000496259,;KRBA1,upstream_gene_variant,,ENST00000496080,;	.	27	18	SUCCESS
SDK1	221935	.	GRCh37	7	4245592	4245592	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs548946940	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	36	123	0	ENST00000404826.2:c.5180C>T	p.Pro1727Leu	p.P1727L	ENST00000404826	NM_152744.3	1727	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS34590.1	5180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCGGAGA	NONE	byCluster	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	36/45	.	.	.	.	.	.	.	.	rs548946940	36/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.35)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Pro1727Leu,ENST00000404826,;SDK1,missense_variant,p.Pro1707Leu,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	5319	124	106	SUCCESS
EIF2AK1	27102	.	GRCh37	7	6098639	6098639	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	31	0	ENST00000199389.6:c.76G>A	p.Ala26Thr	p.A26T	ENST00000199389	NM_001134335.1	26	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS5345.1	76	MUTECT|MUSE	.	GATGGCCGGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11042:SF88,hmmpanther:PTHR11042	.	.	ENSP00000199389	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000199389	Transcript	.	.	ENSG00000086232	24921	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.029)	.	deleterious(0.01)	.	E2AK1_HUMAN	EIF2AK1	HGNC	Q75MR0_HUMAN	.	UPI0000161BAE	SNV	EIF2AK1,missense_variant,p.Ala26Thr,ENST00000199389,;EIF2AK1,missense_variant,p.Ala26Thr,ENST00000446699,;EIF2AK1,5_prime_UTR_variant,,ENST00000536084,;RNU6-218P,downstream_gene_variant,,ENST00000517120,;EIF2AK1,missense_variant,p.Ala26Thr,ENST00000431744,;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000461493,;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000463213,;	223	31	38	SUCCESS
GPC2	221914	.	GRCh37	7	99769820	99769820	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	46	0	ENST00000292377.2:c.913G>A	p.Asp305Asn	p.D305N	ENST00000292377	NM_152742.1	305	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS5689.1	913	RADIA|MUTECT|MUSE|VARSCANS	.	CTTATCAGCCA	NONE	.	.	Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF24	.	.	ENSP00000292377	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000292377	Transcript	.	.	ENSG00000213420	4450	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.428)	.	deleterious(0.02)	.	GPC2_HUMAN	GPC2	HGNC	.	.	UPI000005340D	SNV	GPC2,missense_variant,p.Asp305Asn,ENST00000292377,;GAL3ST4,upstream_gene_variant,,ENST00000413800,;GAL3ST4,upstream_gene_variant,,ENST00000423751,;GAL3ST4,upstream_gene_variant,,ENST00000360039,;GAL3ST4,upstream_gene_variant,,ENST00000426974,;GAL3ST4,upstream_gene_variant,,ENST00000411994,;GPC2,non_coding_transcript_exon_variant,,ENST00000480087,;GPC2,non_coding_transcript_exon_variant,,ENST00000471050,;GAL3ST4,upstream_gene_variant,,ENST00000460995,;GPC2,downstream_gene_variant,,ENST00000482569,;GAL3ST4,upstream_gene_variant,,ENST00000482469,;GAL3ST4,upstream_gene_variant,,ENST00000498000,;GPC2,non_coding_transcript_exon_variant,,ENST00000490629,;GPC2,non_coding_transcript_exon_variant,,ENST00000486702,;GPC2,downstream_gene_variant,,ENST00000471717,;GAL3ST4,upstream_gene_variant,,ENST00000495882,;	1081	46	44	SUCCESS
XPO7	23039	.	GRCh37	8	21827677	21827677	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	11	82	0	ENST00000252512.9:c.282T>C	p.Leu94=	p.L94=	ENST00000252512	NM_015024.4	94	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS47818.1	282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTTGCCAC	NONE	.	.	PROSITE_profiles:PS50166,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7,Pfam_domain:PF03810,SMART_domains:SM00913,Superfamily_domains:SSF48371	.	.	ENSP00000252512	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000252512	Transcript	.	.	ENSG00000130227	14108	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XPO7_HUMAN	XPO7	HGNC	E5RIW1_HUMAN,B4DSP8_HUMAN	.	UPI0000134559	SNV	XPO7,synonymous_variant,p.%3D,ENST00000252512,;XPO7,synonymous_variant,p.%3D,ENST00000434536,;XPO7,synonymous_variant,p.%3D,ENST00000433566,;XPO7,synonymous_variant,p.%3D,ENST00000521303,;XPO7,non_coding_transcript_exon_variant,,ENST00000518017,;XPO7,downstream_gene_variant,,ENST00000520754,;XPO7,downstream_gene_variant,,ENST00000519769,;	382	82	46	SUCCESS
SCARA5	286133	.	GRCh37	8	27764734	27764734	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	42	0	ENST00000354914.3:c.1027T>A	p.Leu343Met	p.L343M	ENST00000354914	NM_173833.5	343	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6064.1	1027	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAATCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF17,hmmpanther:PTHR24021,Pfam_domain:PF01391,Pfam_domain:PF01391	.	.	ENSP00000346990	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000354914	Transcript	.	.	ENSG00000168079	28701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.101)	.	tolerated(0.21)	.	SCAR5_HUMAN	SCARA5	HGNC	.	.	UPI000015FA6D	SNV	SCARA5,missense_variant,p.Leu343Met,ENST00000354914,;SCARA5,missense_variant,p.Leu300Met,ENST00000301906,;SCARA5,missense_variant,p.Leu118Met,ENST00000380385,;SCARA5,missense_variant,p.Leu300Met,ENST00000518030,;SCARA5,missense_variant,p.Leu343Met,ENST00000524352,;RP11-597M17.1,intron_variant,,ENST00000517735,;RP11-597M17.3,upstream_gene_variant,,ENST00000517763,;RP11-597M17.2,downstream_gene_variant,,ENST00000521019,;	1513	42	20	SUCCESS
KCNU1	157855	.	GRCh37	8	36675256	36675256	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	108	0	ENST00000399881.3:c.1084A>G	p.Thr362Ala	p.T362A	ENST00000399881	NM_001031836.2	362	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS55220.1	1084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACACTGAA	NONE	.	.	Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	10/27	.	.	.	.	.	.	.	.	.	10/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.437)	.	deleterious(0.02)	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,missense_variant,p.Thr362Ala,ENST00000399881,;KCNU1,downstream_gene_variant,,ENST00000523973,;KCNU1,missense_variant,p.Thr362Ala,ENST00000522372,;	1121	108	58	SUCCESS
NKX6-3	157848	.	GRCh37	8	41504161	41504161	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	25	0	ENST00000518699.2:c.605C>T	p.Pro202Leu	p.P202L	ENST00000518699		202	cCc/cTc	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS6118.1	215	MUTECT|MUSE	.	ACGAGGGCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF20	.	.	ENSP00000429553	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000524115	Transcript	.	.	ENSG00000165066	26328	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.958)	.	tolerated_low_confidence(0.33)	.	NKX63_HUMAN	NKX6-3	HGNC	.	.	UPI000006EB2C	SNV	NKX6-3,missense_variant,p.Pro202Leu,ENST00000518699,;NKX6-3,missense_variant,p.Pro72Leu,ENST00000524115,;	219	25	20	SUCCESS
CRISPLD1	83690	.	GRCh37	8	75929298	75929298	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	21	199	0	ENST00000262207.4:c.946G>T	p.Gly316Cys	p.G316C	ENST00000262207	NM_031461.5	316	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS6219.1	946	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTGGCTGT	NONE	.	.	PROSITE_profiles:PS50820,hmmpanther:PTHR10334:SF73,hmmpanther:PTHR10334,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469	.	.	ENSP00000262207	.	9/15	.	.	.	.	.	.	.	.	COSM335745	9/15	PASS	ENST00000262207	Transcript	.	.	ENSG00000121005	18206	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CRLD1_HUMAN	CRISPLD1	HGNC	E5RJS4_HUMAN,B7Z8V9_HUMAN	.	UPI00000422F5	SNV	CRISPLD1,missense_variant,p.Gly316Cys,ENST00000262207,;CRISPLD1,missense_variant,p.Gly130Cys,ENST00000517786,;CRISPLD1,missense_variant,p.Gly128Cys,ENST00000523524,;CRISPLD1,downstream_gene_variant,,ENST00000520277,;CRISPLD1,downstream_gene_variant,,ENST00000519798,;	1414	199	148	SUCCESS
RUNX1T1	862	.	GRCh37	8	93023242	93023242	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	96	0	ENST00000265814.3:c.546C>A	p.Ile182=	p.I182=	ENST00000265814	NM_001198628.1	182	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS56544.1	579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGATGAC	NONE	.	.	PROSITE_profiles:PS51119,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5,Pfam_domain:PF07531,SMART_domains:SM00549,Superfamily_domains:SSF158553,Prints_domain:PR01875	.	.	ENSP00000402257	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000436581	Transcript	1	.	ENSG00000079102	1535	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTG8_HUMAN	RUNX1T1	HGNC	Q9HBV9_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN	.	UPI0001D5F276	SNV	RUNX1T1,synonymous_variant,p.%3D,ENST00000422361,;RUNX1T1,synonymous_variant,p.%3D,ENST00000436581,;RUNX1T1,synonymous_variant,p.%3D,ENST00000360348,;RUNX1T1,synonymous_variant,p.%3D,ENST00000521553,;RUNX1T1,synonymous_variant,p.%3D,ENST00000518844,;RUNX1T1,synonymous_variant,p.%3D,ENST00000523629,;RUNX1T1,synonymous_variant,p.%3D,ENST00000520724,;RUNX1T1,synonymous_variant,p.%3D,ENST00000518992,;RUNX1T1,synonymous_variant,p.%3D,ENST00000265814,;RUNX1T1,synonymous_variant,p.%3D,ENST00000521054,;RUNX1T1,synonymous_variant,p.%3D,ENST00000396218,;RUNX1T1,downstream_gene_variant,,ENST00000518317,;RUNX1T1,downstream_gene_variant,,ENST00000523168,;RUNX1T1,downstream_gene_variant,,ENST00000517792,;RUNX1T1,downstream_gene_variant,,ENST00000520583,;RUNX1T1,downstream_gene_variant,,ENST00000518832,;RUNX1T1,downstream_gene_variant,,ENST00000522467,;RUNX1T1,downstream_gene_variant,,ENST00000521319,;RUNX1T1,downstream_gene_variant,,ENST00000518823,;RUNX1T1,downstream_gene_variant,,ENST00000520974,;RUNX1T1,downstream_gene_variant,,ENST00000521733,;RUNX1T1,downstream_gene_variant,,ENST00000517919,;RUNX1T1,downstream_gene_variant,,ENST00000519847,;RUNX1T1,downstream_gene_variant,,ENST00000520556,;RUNX1T1,downstream_gene_variant,,ENST00000521375,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000521897,;RUNX1T1,downstream_gene_variant,,ENST00000519422,;RUNX1T1,upstream_gene_variant,,ENST00000520047,;RUNX1T1,downstream_gene_variant,,ENST00000524215,;RUNX1T1,downstream_gene_variant,,ENST00000519577,;	590	96	71	SUCCESS
FAM69B	0	.	GRCh37	9	139617859	139617859	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	22	121	0	ENST00000371692.4:c.929A>G	p.Asp310Gly	p.D310G	ENST00000371692	NM_152421.3	310	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS7004.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACGACTTCA	NONE	.	.	hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF3,Pfam_domain:PF12260	.	.	ENSP00000360757	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371692	Transcript	.	.	ENSG00000165716	28290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.4)	.	deleterious(0.02)	.	FA69B_HUMAN	FAM69B	HGNC	.	.	UPI000013E4F3	SNV	FAM69B,missense_variant,p.Asp223Gly,ENST00000371691,;FAM69B,missense_variant,p.Asp310Gly,ENST00000371692,;SNHG7,downstream_gene_variant,,ENST00000391185,;SNHG7,downstream_gene_variant,,ENST00000362567,;SNHG7,intron_variant,,ENST00000414282,;SNHG7,downstream_gene_variant,,ENST00000416970,;SNHG7,downstream_gene_variant,,ENST00000447221,;SNHG7,downstream_gene_variant,,ENST00000436596,;	1025	121	86	SUCCESS
TOPORS	10210	.	GRCh37	9	32550784	32550784	+	synonymous_variant	Silent	SNP	C	C	T	rs745448839	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	86	178	0	ENST00000360538.2:c.186G>A	p.Pro62=	p.P62=	ENST00000360538	NM_005802.4	62	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS6527.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCCGGCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456	.	.	ENSP00000353735	.	2/3	.	.	.	.	.	.	.	.	rs745448839	2/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,synonymous_variant,p.%3D,ENST00000360538,;TOPORS,intron_variant,,ENST00000379858,;NDUFB6,downstream_gene_variant,,ENST00000350021,;NDUFB6,downstream_gene_variant,,ENST00000379847,;TOPORS-AS1,upstream_gene_variant,,ENST00000425533,;TOPORS-AS1,upstream_gene_variant,,ENST00000458036,;TOPORS-AS1,upstream_gene_variant,,ENST00000453396,;TOPORS-AS1,upstream_gene_variant,,ENST00000450093,;TOPORS-AS1,upstream_gene_variant,,ENST00000540066,;AL353671.3,upstream_gene_variant,,ENST00000366466,;AL353671.2,downstream_gene_variant,,ENST00000359975,;AL353671.1,upstream_gene_variant,,ENST00000366355,;	303	178	226	SUCCESS
MOSPD2	158747	.	GRCh37	X	14915353	14915353	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	79	93	0	ENST00000380492.3:c.470A>G	p.Asn157Ser	p.N157S	ENST00000380492	NM_152581.3	157	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS14162.1	470	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAAATAGCA	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR19993,hmmpanther:PTHR19993:SF1,Pfam_domain:PF00650,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000369860	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000380492	Transcript	.	.	ENSG00000130150	28381	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	MSPD2_HUMAN	MOSPD2	HGNC	.	.	UPI00000735BA	SNV	MOSPD2,missense_variant,p.Asn157Ser,ENST00000482354,;MOSPD2,missense_variant,p.Asn157Ser,ENST00000380492,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000495110,;MOSPD2,downstream_gene_variant,,ENST00000461777,;	558	93	89	SUCCESS
SSX5	6758	.	GRCh37	X	48054255	48054255	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	95	163	0	ENST00000347757.1:c.105A>T	p.Lys35Asn	p.K35N	ENST00000347757	NM_175723.1	35	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS14288.1	228	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTTTCTC	NONE	.	.	PROSITE_profiles:PS50806,hmmpanther:PTHR14112:SF4,hmmpanther:PTHR14112,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000312415	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000311798	Transcript	.	.	ENSG00000165583	11339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.705)	.	tolerated(0.07)	.	SSX5_HUMAN	SSX5	HGNC	.	.	UPI000013F201	SNV	SSX5,missense_variant,p.Lys35Asn,ENST00000347757,;SSX5,missense_variant,p.Lys76Asn,ENST00000311798,;SSX5,missense_variant,p.Lys35Asn,ENST00000376923,;SSX5,upstream_gene_variant,,ENST00000403001,;RP11-552E4.2,upstream_gene_variant,,ENST00000437312,;	281	163	128	SUCCESS
USP6NL	9712	.	GRCh37	10	11505654	11505655	+	inframe_insertion	In_Frame_Ins	INS	-	-	CGT	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	100	0	ENST00000609104.1:c.1270_1272dup	p.Thr424dup	p.T424dup	ENST00000609104	NM_014688.2	424	-/ACG	0	.	.	.	.	.	CGT	-/T	protein_coding	YES	CCDS44357.1	1323-1324	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCGGGCGTCC	NONE	.	.	hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF193	.	.	ENSP00000277575	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000277575	Transcript	.	.	ENSG00000148429	16858	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	US6NL_HUMAN	USP6NL	HGNC	.	.	UPI0000251ED1	insertion	USP6NL,inframe_insertion,p.Thr424dup,ENST00000609104,;USP6NL,inframe_insertion,p.Thr447dup,ENST00000379237,;USP6NL,inframe_insertion,p.Thr441dup,ENST00000277575,;	1366-1367	100	77	SUCCESS
TDRD1	56165	.	GRCh37	10	115977409	115977419	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTGCAGGTAAG	TTGCAGGTAAG	-	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	TTGCAGGTAAG	TTGCAGGTAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	157	21	182	0	ENST00000251864.2:c.2323_2323+10del		p.X775_splice	ENST00000251864	NM_198795.1	775		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7588.1	2318-?	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTTTTGCAGGTAAGTTGCA	NONE	.	.	.	.	.	ENSP00000251864	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000251864	Transcript	.	.	ENSG00000095627	11712	5	.	HIGH	17/25	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TDRD1_HUMAN	TDRD1	HGNC	.	.	UPI00001F9753	deletion	TDRD1,splice_donor_variant,,ENST00000369282,;TDRD1,splice_donor_variant,,ENST00000369281,;TDRD1,splice_donor_variant,,ENST00000251864,;TDRD1,splice_donor_variant,,ENST00000369280,;TDRD1,splice_donor_variant,,ENST00000422662,;	2471-?	182	178	SUCCESS
STAM	8027	.	GRCh37	10	17686221	17686221	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	16	0	ENST00000377524.3:c.-118C>A		p.*40*	ENST00000377524	NM_003473.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7122.1	.	MUTECT|MUSE	.	GCGGACCCTGT	NONE	.	.	.	.	.	ENSP00000366746	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000377524	Transcript	.	.	ENSG00000136738	11357	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAM1_HUMAN	STAM	HGNC	C9J1E5_HUMAN,B4DZT2_HUMAN,A6NMU3_HUMAN	.	UPI000006E278	SNV	STAM,5_prime_UTR_variant,,ENST00000377524,;STAM,5_prime_UTR_variant,,ENST00000377500,;STAM,upstream_gene_variant,,ENST00000540523,;RP11-390B4.5,upstream_gene_variant,,ENST00000563601,;STAM,5_prime_UTR_variant,,ENST00000445846,;	98	16	20	SUCCESS
KIAA1217	56243	.	GRCh37	10	24508698	24508698	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs754656050	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	35	172	0	ENST00000376454.3:c.214C>G	p.Pro72Ala	p.P72A	ENST00000376454	NM_019590.3	72	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS31165.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCCCCGA	BUFFER|p.R73Q|c.218G>A|3	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	2/21	.	.	.	.	.	.	.	.	rs754656050,COSM4013387	2/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.004)	.	tolerated(1)	0,1	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Pro72Ala,ENST00000376454,;KIAA1217,missense_variant,p.Pro72Ala,ENST00000376456,;KIAA1217,missense_variant,p.Pro72Ala,ENST00000376452,;KIAA1217,missense_variant,p.Pro72Ala,ENST00000458595,;KIAA1217,5_prime_UTR_variant,,ENST00000376462,;	244	172	139	SUCCESS
ARMC4	0	.	GRCh37	10	28224053	28224053	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs747260565	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	41	159	0	ENST00000305242.5:c.2381G>T	p.Arg794Leu	p.R794L	ENST00000305242	NM_018076.2	794	cGg/cTg	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS7157.1	2381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCGGACA	NONE	.	.	hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000306410	.	16/20	.	.	.	.	.	.	.	.	rs747260565	16/20	PASS	ENST00000305242	Transcript	1	.	ENSG00000169126	25583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ARMC4_HUMAN	ARMC4	HGNC	R4GN11_HUMAN,A8K906_HUMAN	.	UPI00001A95E1	SNV	ARMC4,missense_variant,p.Arg319Leu,ENST00000545014,;ARMC4,missense_variant,p.Arg794Leu,ENST00000305242,;ARMC4,missense_variant,p.Arg486Leu,ENST00000537576,;	2474	159	148	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49654442	49654442	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768138963	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	101	0	ENST00000249601.4:c.2089C>T	p.Pro697Ser	p.P697S	ENST00000249601	NM_021226.3	697	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS58080.1	2137	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGGGCCC	NONE	byFrequency	.	hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521	.	.	ENSP00000412461	.	10/10	.	.	.	.	.	.	.	.	rs768138963,COSM1128046	10/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.021)	.	tolerated_low_confidence(0.07)	0,1	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Pro703Ser,ENST00000435790,;ARHGAP22,missense_variant,p.Pro538Ser,ENST00000374170,;ARHGAP22,missense_variant,p.Pro697Ser,ENST00000249601,;ARHGAP22,missense_variant,p.Pro588Ser,ENST00000374172,;ARHGAP22,missense_variant,p.Pro530Ser,ENST00000477708,;ARHGAP22,missense_variant,p.Pro713Ser,ENST00000417912,;ARHGAP22,missense_variant,p.Pro607Ser,ENST00000417247,;ARHGAP22,downstream_gene_variant,,ENST00000460425,;	2293	101	99	SUCCESS
MBL2	4153	.	GRCh37	10	54528080	54528115	+	inframe_deletion	In_Frame_Del	DEL	ATCAGTGATGCCCAGGAAGGCTTCCTCCTTGATGAG	ATCAGTGATGCCCAGGAAGGCTTCCTCCTTGATGAG	-	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	ATCAGTGATGCCCAGGAAGGCTTCCTCCTTGATGAG	ATCAGTGATGCCCAGGAAGGCTTCCTCCTTGATGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	80	30	98	0	ENST00000373968.3:c.529_564del	p.Leu177_Asp188del	p.L177_D188del	ENST00000373968	NM_000242.2	177	CTCATCAAGGAGGAAGCCTTCCTGGGCATCACTGAT/-	0	.	.	.	.	.	-	LIKEEAFLGITD/-	protein_coding	YES	CCDS7247.1	529-564	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCTCATCAGTGATGCCCAGGAAGGCTTCCTCCTTGATGAGATTCT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF2,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000363079	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000373968	Transcript	1	.	ENSG00000165471	6922	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MBL2_HUMAN	MBL2	HGNC	Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN	.	UPI0000035011	deletion	MBL2,inframe_deletion,p.Leu177_Asp188del,ENST00000373968,;	594-629	98	110	SUCCESS
MMP12	4321	.	GRCh37	11	102743680	102743680	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs200973192	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	78	0	ENST00000532855.1:n.362G>A		p.*121*	ENST00000532855				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCGTGCA	NONE	byFrequency|byCluster	.	.	.	.	.	.	2/10	.	.	.	.	.	.	.	.	rs200973192	2/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MMP12	HGNC	.	.	.	SNV	MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;MMP12,non_coding_transcript_exon_variant,,ENST00000326227,;	362	78	61	SUCCESS
GRIA4	2893	.	GRCh37	11	105795410	105795410	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	27	201	0	ENST00000282499.5:c.1762C>T	p.Gln588Ter	p.Q588*	ENST00000282499	NM_000829.3	588	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS8333.1	1762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGACCAGCCT	NONE	.	.	hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324	.	.	ENSP00000282499	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,stop_gained,p.Gln588Ter,ENST00000282499,;GRIA4,stop_gained,p.Gln588Ter,ENST00000530497,;GRIA4,stop_gained,p.Gln588Ter,ENST00000393127,;GRIA4,stop_gained,p.Gln588Ter,ENST00000525187,;	2208	201	161	SUCCESS
ALG9	79796	.	GRCh37	11	111706981	111706981	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	94	0	ENST00000531154.1:c.996T>A	p.Gly332=	p.G332=	ENST00000531154	NM_024740.2	332	ggT/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41714.1	996	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTGACCTCT	NONE	.	.	hmmpanther:PTHR22760:SF2,hmmpanther:PTHR22760	.	.	ENSP00000435517	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000531154	Transcript	.	.	ENSG00000086848	15672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ALG9_HUMAN	ALG9	HGNC	.	.	UPI000058E4B0	SNV	ALG9,synonymous_variant,p.%3D,ENST00000531154,;ALG9,synonymous_variant,p.%3D,ENST00000532425,;ALG9,synonymous_variant,p.%3D,ENST00000398006,;ALG9,non_coding_transcript_exon_variant,,ENST00000527228,;ALG9,non_coding_transcript_exon_variant,,ENST00000532374,;ALG9,non_coding_transcript_exon_variant,,ENST00000526272,;ALG9,non_coding_transcript_exon_variant,,ENST00000524457,;ALG9,intron_variant,,ENST00000530851,;ALG9,downstream_gene_variant,,ENST00000527294,;ALG9,downstream_gene_variant,,ENST00000527883,;ALG9,3_prime_UTR_variant,,ENST00000524880,;ALG9,downstream_gene_variant,,ENST00000527714,;	1469	94	57	SUCCESS
KRTAP5-5	439915	.	GRCh37	11	1651253	1651253	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	20	131	0	ENST00000399676.2:c.183C>G	p.Gly61=	p.G61=	ENST00000399676	NM_001001480.2	61	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41592.1	183	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGCTGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF41	.	.	ENSP00000382584	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399676	Transcript	.	.	ENSG00000185940	23601	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA55_HUMAN	KRTAP5-5	HGNC	.	.	UPI0000E592E5	SNV	KRTAP5-5,synonymous_variant,p.%3D,ENST00000399676,;	221	131	140	SUCCESS
NLRP6	171389	.	GRCh37	11	280376	280376	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	28	0	ENST00000312165.5:c.642G>A	p.Lys214=	p.K214=	ENST00000312165	NM_001276700.1	214	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS7693.1	642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGATCCT	NONE	.	.	Superfamily_domains:SSF52540,Pfam_domain:PF05729,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3,PROSITE_profiles:PS50837	.	.	ENSP00000309767	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000312165	Transcript	.	.	ENSG00000174885	22944	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP6_HUMAN	NLRP6	HGNC	.	.	UPI00001AEFE1	SNV	NLRP6,synonymous_variant,p.%3D,ENST00000534750,;NLRP6,synonymous_variant,p.%3D,ENST00000312165,;NLRP6,downstream_gene_variant,,ENST00000527946,;	642	28	31	SUCCESS
RRM1	6240	.	GRCh37	11	4127292	4127292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	18	78	0	ENST00000300738.5:c.125A>G	p.Lys42Arg	p.K42R	ENST00000300738	NM_001033.3	42	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7750.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAAAGTAA	NONE	.	.	Superfamily_domains:SSF48168,Pfam_domain:PF03477,PROSITE_profiles:PS51161,hmmpanther:PTHR11573	.	.	ENSP00000300738	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000300738	Transcript	.	.	ENSG00000167325	10451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated_low_confidence(0.23)	.	RIR1_HUMAN	RRM1	HGNC	F5H861_HUMAN,E9PL69_HUMAN,E9PD78_HUMAN,B4DNN4_HUMAN	.	UPI0000000C7C	SNV	RRM1,missense_variant,p.Lys42Arg,ENST00000300738,;RRM1,intron_variant,,ENST00000423050,;RRM1,non_coding_transcript_exon_variant,,ENST00000526865,;RRM1,non_coding_transcript_exon_variant,,ENST00000532710,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,non_coding_transcript_exon_variant,,ENST00000526350,;RRM1,non_coding_transcript_exon_variant,,ENST00000530368,;RRM1,intron_variant,,ENST00000533349,;	329	78	97	SUCCESS
CHRM4	1132	.	GRCh37	11	46407264	46407264	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1307085161	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	57	0	ENST00000433765.2:c.844C>T	p.Pro282Ser	p.P282S	ENST00000433765	NM_000741.2	282	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS44581.1	844	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGGTGGCA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF60,hmmpanther:PTHR24249,Pfam_domain:PF00001	.	.	ENSP00000409378	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000433765	Transcript	.	.	ENSG00000180720	1953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.75)	.	ACM4_HUMAN	CHRM4	HGNC	.	.	UPI00001252BB	SNV	CHRM4,missense_variant,p.Pro282Ser,ENST00000433765,;MDK,downstream_gene_variant,,ENST00000395565,;MDK,downstream_gene_variant,,ENST00000407067,;MDK,downstream_gene_variant,,ENST00000359803,;MDK,downstream_gene_variant,,ENST00000405308,;MDK,downstream_gene_variant,,ENST00000533952,;MDK,downstream_gene_variant,,ENST00000441869,;MDK,downstream_gene_variant,,ENST00000395566,;MDK,downstream_gene_variant,,ENST00000395569,;MDK,downstream_gene_variant,,ENST00000533283,;MDK,downstream_gene_variant,,ENST00000481047,;MDK,downstream_gene_variant,,ENST00000489525,;MDK,downstream_gene_variant,,ENST00000490240,;	844	57	38	SUCCESS
MYRF	745	.	GRCh37	11	61533636	61533637	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	.	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	71	0	ENST00000278836.5:c.344dup	p.Thr118HisfsTer8	p.T118Hfs*8	ENST00000278836	NM_001127392.1	114	ttc/ttCc	0	CCC:0.0015	.	.	.	.	C	F/FX	protein_coding	YES	CCDS44622.1	341-342	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCTTCCCGG	NONE	.	.	hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16	.	CCC:0.0006	ENSP00000278836	.	3/27	.	.	.	.	.	.	.	.	TMP_ESP_11_61533637_61533636	3/27	PASS	ENST00000278836	Transcript	.	.	ENSG00000124920	1181	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MRF_HUMAN	MYRF	HGNC	.	.	UPI0000D45F7B	insertion	MYRF,frameshift_variant,p.Thr118HisfsTer8,ENST00000278836,;MYRF,frameshift_variant,p.Thr109HisfsTer8,ENST00000265460,;TMEM258,downstream_gene_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000537766,;	437-438	71	72	SUCCESS
CATSPER1	117144	.	GRCh37	11	65787820	65787820	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	73	0	ENST00000312106.5:c.2032C>T	p.Leu678=	p.L678=	ENST00000312106	NM_053054.3	678	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8127.1	2032	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGCGCCG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32	.	.	ENSP00000309052	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000312106	Transcript	.	.	ENSG00000175294	17116	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTSR1_HUMAN	CATSPER1	HGNC	.	.	UPI000045651C	SNV	CATSPER1,synonymous_variant,p.%3D,ENST00000312106,;CATSPER1,intron_variant,,ENST00000529244,;	2170	73	68	SUCCESS
RNF121	55298	.	GRCh37	11	71640151	71640151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	11	73	0	ENST00000361756.3:c.44G>A	p.Gly15Glu	p.G15E	ENST00000361756	NM_018320.4	15	gGg/gAg	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS8203.1	44	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGGGGAAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13407,hmmpanther:PTHR13407:SF1	.	.	ENSP00000354571	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000361756	Transcript	.	.	ENSG00000137522	21070	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.25)	.	RN121_HUMAN	RNF121	HGNC	Q9NUW5_HUMAN,E9PLR7_HUMAN,B3KSW8_HUMAN,A0PJP0_HUMAN	.	UPI000006FB75	SNV	RNF121,missense_variant,p.Gly15Glu,ENST00000361756,;RNF121,5_prime_UTR_variant,,ENST00000530137,;RNF121,5_prime_UTR_variant,,ENST00000533380,;RNF121,5_prime_UTR_variant,,ENST00000545854,;RNF121,5_prime_UTR_variant,,ENST00000393713,;RP11-849H4.2,upstream_gene_variant,,ENST00000529844,;RP11-849H4.2,upstream_gene_variant,,ENST00000529513,;RP11-849H4.2,upstream_gene_variant,,ENST00000528511,;RP11-849H4.2,upstream_gene_variant,,ENST00000528184,;RP11-849H4.2,upstream_gene_variant,,ENST00000533047,;RP11-849H4.2,upstream_gene_variant,,ENST00000534704,;RNF121,non_coding_transcript_exon_variant,,ENST00000490867,;RP11-849H4.2,upstream_gene_variant,,ENST00000531488,;RNF121,missense_variant,p.Gly11Glu,ENST00000525243,;RNF121,missense_variant,p.Gly15Glu,ENST00000393711,;RNF121,missense_variant,p.Gly15Glu,ENST00000530058,;RNF121,5_prime_UTR_variant,,ENST00000526549,;RNF121,5_prime_UTR_variant,,ENST00000530655,;RNF121,non_coding_transcript_exon_variant,,ENST00000528683,;	405	73	85	SUCCESS
KCNE3	10008	.	GRCh37	11	74168309	74168320	+	inframe_deletion	In_Frame_Del	DEL	CACACGGTTCTT	CACACGGTTCTT	-	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	CACACGGTTCTT	CACACGGTTCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	92	0	ENST00000310128.4:c.289_300del	p.Lys97_Val100del	p.K97_V100del	ENST00000310128	NM_005472.4	97	AAGAACCGTGTG/-	0	.	.	.	.	.	-	KNRV/-	protein_coding	YES	CCDS8232.1	289-300	VARSCANI*|PINDEL	.	CATAGACACACGGTTCTTGATAT	NONE	.	.	hmmpanther:PTHR15282:SF6,hmmpanther:PTHR15282,Pfam_domain:PF02060	.	.	ENSP00000310557	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000310128	Transcript	.	.	ENSG00000175538	6243	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNE3_HUMAN	KCNE3	HGNC	Q6IAE6_HUMAN,Q2N1I1_HUMAN,E9PN03_HUMAN,E9PJV9_HUMAN	.	UPI000012F15C	deletion	KCNE3,inframe_deletion,p.Lys97_Val100del,ENST00000310128,;KCNE3,inframe_deletion,p.Lys97_Val100del,ENST00000525550,;KCNE3,coding_sequence_variant,,ENST00000532569,;KCNE3,downstream_gene_variant,,ENST00000531854,;KCNE3,downstream_gene_variant,,ENST00000529425,;KCNE3,downstream_gene_variant,,ENST00000526855,;RP11-702H23.4,intron_variant,,ENST00000533008,;RP11-702H23.6,downstream_gene_variant,,ENST00000530510,;	709-720	92	54	SUCCESS
HECTD4	283450	.	GRCh37	12	112673514	112673514	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	90	0	ENST00000550722.1:c.5081G>A	p.Arg1694His	p.R1694H	ENST00000550722	NM_001109662.3	1694	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	.	5081	RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGCGTTGG	NONE	.	.	hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	.	.	ENSP00000449784	.	36/76	.	.	.	.	.	.	.	.	.	36/76	PASS	ENST00000550722	Transcript	.	.	ENSG00000173064	26611	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	.	.	.	HECTD4	HGNC	F8VWT9_HUMAN,F8VU57_HUMAN	.	UPI00020CE513	SNV	HECTD4,missense_variant,p.Arg1418His,ENST00000430131,;HECTD4,missense_variant,p.Arg1694His,ENST00000550722,;HECTD4,missense_variant,p.Arg1668His,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000547519,;	5477	90	86	SUCCESS
ARID2	196528	.	GRCh37	12	46246680	46246680	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	51	0	ENST00000334344.6:c.4773+1G>T		p.X1591_splice	ENST00000334344	NM_152641.2	1591		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31783.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGTAAGT	NONE	.	.	.	.	.	ENSP00000335044	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	15/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,splice_donor_variant,,ENST00000334344,;ARID2,splice_donor_variant,,ENST00000444670,;ARID2,splice_donor_variant,,ENST00000422737,;ARID2,splice_donor_variant,,ENST00000457135,;ARID2,splice_donor_variant,,ENST00000479608,;	.	51	37	SUCCESS
LMBR1L	55716	.	GRCh37	12	49498238	49498238	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	109	0	ENST00000267102.8:c.428C>T	p.Ser143Phe	p.S143F	ENST00000267102	NM_018113.2	143	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS8780.2	428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGAGCCA	NONE	.	.	hmmpanther:PTHR12625:SF2,hmmpanther:PTHR12625,Pfam_domain:PF04791	.	.	ENSP00000267102	.	5/17	.	.	.	.	.	.	.	.	COSM1299463,COSM1299462	5/17	PASS	ENST00000267102	Transcript	.	.	ENSG00000139636	18268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	tolerated(0.35)	1,1	LMBRL_HUMAN	LMBR1L	HGNC	F8VVE2_HUMAN	.	UPI0000071212	SNV	LMBR1L,missense_variant,p.Ser138Phe,ENST00000395141,;LMBR1L,missense_variant,p.Ser143Phe,ENST00000267102,;LMBR1L,missense_variant,p.Ser143Phe,ENST00000547382,;LMBR1L,intron_variant,,ENST00000547675,;LMBR1L,downstream_gene_variant,,ENST00000551854,;LMBR1L,downstream_gene_variant,,ENST00000551782,;LMBR1L,upstream_gene_variant,,ENST00000552449,;LMBR1L,downstream_gene_variant,,ENST00000550137,;LMBR1L,upstream_gene_variant,,ENST00000547698,;LMBR1L,intron_variant,,ENST00000553204,;LMBR1L,intron_variant,,ENST00000552153,;LMBR1L,downstream_gene_variant,,ENST00000548983,;LMBR1L,upstream_gene_variant,,ENST00000549429,;LMBR1L,missense_variant,p.Pro141Ser,ENST00000457164,;LMBR1L,3_prime_UTR_variant,,ENST00000417750,;LMBR1L,3_prime_UTR_variant,,ENST00000547670,;LMBR1L,3_prime_UTR_variant,,ENST00000551169,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000549730,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000550867,;LMBR1L,upstream_gene_variant,,ENST00000552879,;LMBR1L,upstream_gene_variant,,ENST00000553040,;LMBR1L,downstream_gene_variant,,ENST00000549587,;LMBR1L,downstream_gene_variant,,ENST00000549296,;LMBR1L,downstream_gene_variant,,ENST00000551115,;LMBR1L,downstream_gene_variant,,ENST00000551535,;LMBR1L,upstream_gene_variant,,ENST00000551272,;LMBR1L,upstream_gene_variant,,ENST00000552577,;LMBR1L,upstream_gene_variant,,ENST00000551143,;LMBR1L,downstream_gene_variant,,ENST00000550815,;LMBR1L,upstream_gene_variant,,ENST00000547813,;LMBR1L,upstream_gene_variant,,ENST00000552141,;	771	109	96	SUCCESS
GRIP1	23426	.	GRCh37	12	66786486	66786486	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	47	129	1	ENST00000359742.4:c.2240T>C	p.Val747Ala	p.V747A	ENST00000359742		747	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS41807.1	2084	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGACAGTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000381098	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.714)	.	tolerated(0.07)	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,missense_variant,p.Val695Ala,ENST00000538211,;GRIP1,missense_variant,p.Val562Ala,ENST00000538164,;GRIP1,missense_variant,p.Val747Ala,ENST00000286445,;GRIP1,missense_variant,p.Val587Ala,ENST00000536215,;GRIP1,missense_variant,p.Val695Ala,ENST00000398016,;GRIP1,missense_variant,p.Val747Ala,ENST00000359742,;GRIP1,missense_variant,p.Val639Ala,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,upstream_gene_variant,,ENST00000541299,;	2153	130	127	SUCCESS
USP5	8078	.	GRCh37	12	6972521	6972521	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	34	103	0	ENST00000229268.8:c.1934C>T	p.Pro645Leu	p.P645L	ENST00000229268	NM_001098536.1	645	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS41743.1	1934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCTCACT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,Pfam_domain:PF00443,Gene3D:1.10.8.10,PIRSF_domain:PIRSF016308	.	.	ENSP00000229268	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000229268	Transcript	.	.	ENSG00000111667	12628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	tolerated(0.1)	.	UBP5_HUMAN	USP5	HGNC	.	.	UPI00001379E1	SNV	USP5,missense_variant,p.Pro645Leu,ENST00000229268,;USP5,intron_variant,,ENST00000389231,;TPI1,upstream_gene_variant,,ENST00000396705,;TPI1,upstream_gene_variant,,ENST00000229270,;TPI1,upstream_gene_variant,,ENST00000535434,;TPI1,upstream_gene_variant,,ENST00000488464,;TPI1,upstream_gene_variant,,ENST00000462761,;TPI1,upstream_gene_variant,,ENST00000493987,;USP5,downstream_gene_variant,,ENST00000542087,;USP5,non_coding_transcript_exon_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000542371,;USP5,intron_variant,,ENST00000537267,;USP5,downstream_gene_variant,,ENST00000535080,;	1986	103	69	SUCCESS
LGR5	8549	.	GRCh37	12	71977548	71977548	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	38	135	0	ENST00000266674.5:c.1758T>G	p.Pro586=	p.P586=	ENST00000266674	NM_001277226.1	586	ccT/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9000.1	1758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCTCTGTA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24367:SF259,hmmpanther:PTHR24367,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000266674	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000266674	Transcript	.	.	ENSG00000139292	4504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGR5_HUMAN	LGR5	HGNC	.	.	UPI000004B65C	SNV	LGR5,synonymous_variant,p.%3D,ENST00000536515,;LGR5,synonymous_variant,p.%3D,ENST00000266674,;LGR5,synonymous_variant,p.%3D,ENST00000540815,;RP11-186F10.2,non_coding_transcript_exon_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	2069	135	114	SUCCESS
MCF2L	23263	.	GRCh37	13	113741578	113741578	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	115	0	ENST00000375608.3:c.2493G>A	p.Leu831=	p.L831=	ENST00000375608		831	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45070.2	2403	RADIA|MUTECT|MUSE	.	CTGCTGATGCA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000440374	.	22/30	.	.	.	.	.	.	.	.	.	22/30	PASS	ENST00000535094	Transcript	.	.	ENSG00000126217	14576	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCF2L_HUMAN	MCF2L	HGNC	B7ZBR9_HUMAN,B7Z9K4_HUMAN	.	UPI0001CE935F	SNV	MCF2L,synonymous_variant,p.%3D,ENST00000423482,;MCF2L,synonymous_variant,p.%3D,ENST00000413354,;MCF2L,synonymous_variant,p.%3D,ENST00000375597,;MCF2L,synonymous_variant,p.%3D,ENST00000397017,;MCF2L,synonymous_variant,p.%3D,ENST00000375608,;MCF2L,synonymous_variant,p.%3D,ENST00000535094,;MCF2L,synonymous_variant,p.%3D,ENST00000434480,;MCF2L,synonymous_variant,p.%3D,ENST00000442652,;MCF2L,synonymous_variant,p.%3D,ENST00000397030,;MCF2L,synonymous_variant,p.%3D,ENST00000375601,;MCF2L,synonymous_variant,p.%3D,ENST00000421756,;MCF2L,synonymous_variant,p.%3D,ENST00000375604,;MCF2L,upstream_gene_variant,,ENST00000261963,;MCF2L,upstream_gene_variant,,ENST00000439475,;MCF2L,upstream_gene_variant,,ENST00000420013,;MCF2L,upstream_gene_variant,,ENST00000441756,;MCF2L,upstream_gene_variant,,ENST00000453297,;MCF2L,downstream_gene_variant,,ENST00000487354,;MCF2L,upstream_gene_variant,,ENST00000491028,;	2562	115	107	SUCCESS
PROSER1	80209	.	GRCh37	13	39587872	39587872	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	106	0	ENST00000352251.3:c.1517A>G	p.Gln506Arg	p.Q506R	ENST00000352251	NM_025138.4	506	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9368.2	1517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTGAAGA	NONE	.	.	hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2	.	.	ENSP00000332034	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000352251	Transcript	.	.	ENSG00000120685	20291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.2)	.	PRSR1_HUMAN	PROSER1	HGNC	.	.	UPI00001FCC65	SNV	PROSER1,missense_variant,p.Gln506Arg,ENST00000352251,;PROSER1,missense_variant,p.Gln484Arg,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,upstream_gene_variant,,ENST00000492646,;PROSER1,downstream_gene_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000602899,;	2351	106	57	SUCCESS
DCT	1638	.	GRCh37	13	95112447	95112447	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	36	212	0	ENST00000377028.5:c.1077G>A	p.Gly359=	p.G359=	ENST00000377028	NM_001922.3	359	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45060.1	1077	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTCCCATC	NONE	.	.	Superfamily_domains:SSF48056,Pfam_domain:PF00264,Gene3D:1.10.1280.10,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4	.	.	ENSP00000392762	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000446125	Transcript	.	.	ENSG00000080166	2709	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TYRP2_HUMAN	DCT	HGNC	Q9NQD8_HUMAN,Q0PK43_HUMAN	.	UPI0000E13F02	SNV	DCT,synonymous_variant,p.%3D,ENST00000377028,;DCT,synonymous_variant,p.%3D,ENST00000446125,;DCT,downstream_gene_variant,,ENST00000490854,;DCT,synonymous_variant,p.%3D,ENST00000483392,;	1504	212	249	SUCCESS
TECPR2	9895	.	GRCh37	14	102881064	102881064	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1214655550	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	35	100	0	ENST00000359520.7:c.572A>G	p.Gln191Arg	p.Q191R	ENST00000359520	NM_014844.3	191	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS32162.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCAAAGAA	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287	.	.	ENSP00000352510	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000359520	Transcript	1	.	ENSG00000196663	19957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.13)	.	tolerated(0.05)	.	TCPR2_HUMAN	TECPR2	HGNC	.	.	UPI00001FDC38	SNV	TECPR2,missense_variant,p.Gln191Arg,ENST00000359520,;TECPR2,missense_variant,p.Gln191Arg,ENST00000558678,;TECPR2,non_coding_transcript_exon_variant,,ENST00000561228,;	798	100	109	SUCCESS
TMEM62	80021	.	GRCh37	15	43473452	43473452	+	synonymous_variant	Silent	SNP	A	A	G	rs778586768	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	64	0	ENST00000260403.2:c.1560A>G	p.Gly520=	p.G520=	ENST00000260403	NM_024956.3	520	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS32210.1	1560	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGACATTT	NONE	.	.	hmmpanther:PTHR14795	.	.	ENSP00000260403	.	13/14	.	.	.	.	.	.	.	.	rs778586768	13/14	PASS	ENST00000260403	Transcript	.	.	ENSG00000137842	26269	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMM62_HUMAN	TMEM62	HGNC	H3BTT1_HUMAN,H3BPV2_HUMAN	.	UPI00004443FD	SNV	TMEM62,synonymous_variant,p.%3D,ENST00000564494,;TMEM62,synonymous_variant,p.%3D,ENST00000260403,;CCNDBP1,upstream_gene_variant,,ENST00000356633,;CCNDBP1,upstream_gene_variant,,ENST00000300213,;RP11-473C18.3,downstream_gene_variant,,ENST00000565685,;TMEM62,non_coding_transcript_exon_variant,,ENST00000569369,;EPB42,intron_variant,,ENST00000563128,;EPB42,upstream_gene_variant,,ENST00000570199,;TMEM62,non_coding_transcript_exon_variant,,ENST00000563859,;TMEM62,non_coding_transcript_exon_variant,,ENST00000566122,;CCNDBP1,upstream_gene_variant,,ENST00000567690,;CCNDBP1,upstream_gene_variant,,ENST00000563065,;CCNDBP1,upstream_gene_variant,,ENST00000569745,;CCNDBP1,upstream_gene_variant,,ENST00000568507,;CCNDBP1,upstream_gene_variant,,ENST00000564630,;CCNDBP1,upstream_gene_variant,,ENST00000566515,;CCNDBP1,upstream_gene_variant,,ENST00000565296,;CCNDBP1,upstream_gene_variant,,ENST00000562553,;CCNDBP1,upstream_gene_variant,,ENST00000566833,;CCNDBP1,upstream_gene_variant,,ENST00000444658,;CCNDBP1,upstream_gene_variant,,ENST00000567434,;	1839	64	53	SUCCESS
MNS1	55329	.	GRCh37	15	56736725	56736725	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	48	0	ENST00000260453.3:c.603A>G	p.Lys201=	p.K201=	ENST00000260453	NM_018365.2	201	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS10158.1	603	RADIA|VARSCANS	.	TGCTTTTTTTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19265:SF0,hmmpanther:PTHR19265,Pfam_domain:PF13868	.	.	ENSP00000260453	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000260453	Transcript	.	.	ENSG00000138587	29636	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MNS1_HUMAN	MNS1	HGNC	B3KQ70_HUMAN	.	UPI0000070061	SNV	MNS1,synonymous_variant,p.%3D,ENST00000260453,;TEX9,intron_variant,,ENST00000537232,;TEX9,intron_variant,,ENST00000352903,;	768	48	38	SUCCESS
DPP8	54878	.	GRCh37	15	65799617	65799617	+	synonymous_variant	Silent	SNP	T	T	C	rs377607090	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	69	0	ENST00000341861.5:c.384A>G	p.Leu128=	p.L128=	ENST00000341861	NM_197960.2	128	ttA/ttG	0	A:0.0002	.	.	.	.	C	L	protein_coding	YES	CCDS10207.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCATTAAGAC	NONE	byCluster	.	hmmpanther:PTHR11731:SF98,hmmpanther:PTHR11731,Superfamily_domains:SSF82171	.	A:0	ENSP00000339208	.	3/20	.	.	.	.	.	.	.	.	rs377607090	3/20	PASS	ENST00000341861	Transcript	.	.	ENSG00000074603	16490	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP8_HUMAN	DPP8	HGNC	H0YN53_HUMAN,H0YMV1_HUMAN	.	UPI00001BFAFE	SNV	DPP8,synonymous_variant,p.%3D,ENST00000358939,;DPP8,synonymous_variant,p.%3D,ENST00000558529,;DPP8,synonymous_variant,p.%3D,ENST00000559526,;DPP8,synonymous_variant,p.%3D,ENST00000321147,;DPP8,synonymous_variant,p.%3D,ENST00000341861,;DPP8,synonymous_variant,p.%3D,ENST00000559233,;DPP8,synonymous_variant,p.%3D,ENST00000321118,;DPP8,synonymous_variant,p.%3D,ENST00000300141,;DPP8,synonymous_variant,p.%3D,ENST00000339244,;DPP8,downstream_gene_variant,,ENST00000560436,;Y_RNA,downstream_gene_variant,,ENST00000516408,;DPP8,downstream_gene_variant,,ENST00000560194,;DPP8,synonymous_variant,p.%3D,ENST00000395652,;	1965	69	83	SUCCESS
SNX29	92017	.	GRCh37	16	12662438	12662438	+	synonymous_variant	Silent	SNP	T	T	C	rs768765879	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	60	0	ENST00000566228.1:c.2394T>C	p.Gly798=	p.G798=	ENST00000566228	NM_032167.3	798	ggT/ggC	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS10553.2	2394	MUTECT|MUSE	.	CGGGGTCAGCC	NONE	.	.	.	.	.	ENSP00000456480	.	21/21	.	.	.	.	.	.	.	.	rs768765879	21/21	PASS	ENST00000566228	Transcript	.	.	ENSG00000048471	30542	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX29_HUMAN	SNX29	HGNC	J3KNF2_HUMAN	.	UPI00000382F9	SNV	SNX29,synonymous_variant,p.%3D,ENST00000566228,;SNX29,synonymous_variant,p.%3D,ENST00000306030,;CTD-3037G24.3,intron_variant,,ENST00000564505,;	2463	60	59	SUCCESS
TRIM72	493829	.	GRCh37	16	31226434	31226434	+	synonymous_variant	Silent	SNP	C	C	T	rs553041719	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	18	0	ENST00000322122.3:c.375C>T	p.Ala125=	p.A125=	ENST00000322122	NM_001008274.3	125	gcC/gcT	0	.	T:0	.	T:0.0014	.	T	A	protein_coding	YES	CCDS32437.1	375	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCCACGC	NONE	by1000G	.	hmmpanther:PTHR24103:SF11,hmmpanther:PTHR24103,Superfamily_domains:SSF57845	T:0	.	ENSP00000312675	T:0	2/7	.	.	.	.	.	.	.	.	rs553041719	2/7	PASS	ENST00000322122	Transcript	.	T:0.0002	ENSG00000177238	32671	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TRI72_HUMAN	TRIM72	HGNC	.	.	UPI00001FFF74	SNV	TRIM72,synonymous_variant,p.%3D,ENST00000322122,;PYDC1,downstream_gene_variant,,ENST00000302964,;PYDC1,downstream_gene_variant,,ENST00000568383,;	659	18	23	SUCCESS
RBL2	5934	.	GRCh37	16	53499478	53499479	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	172	82	184	0	ENST00000262133.6:c.1828dup	p.Arg610LysfsTer4	p.R610Kfs*4	ENST00000262133	NM_005611.3	609	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS10748.1	1827-1828	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAATTAGAGA	NONE	.	.	hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Superfamily_domains:SSF47954	.	.	ENSP00000262133	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000262133	Transcript	.	.	ENSG00000103479	9894	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBL2_HUMAN	RBL2	HGNC	J3KSF7_HUMAN	.	UPI000013D264	insertion	RBL2,frameshift_variant,p.Arg394LysfsTer4,ENST00000544545,;RBL2,frameshift_variant,p.Arg610LysfsTer4,ENST00000262133,;RBL2,frameshift_variant,p.Arg536LysfsTer4,ENST00000544405,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,non_coding_transcript_exon_variant,,ENST00000562850,;RBL2,downstream_gene_variant,,ENST00000561512,;RBL2,upstream_gene_variant,,ENST00000562837,;	1964-1965	184	254	SUCCESS
GSE1	23199	.	GRCh37	16	85690011	85690011	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374600357	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	24	177	0	ENST00000253458.7:c.1052G>A	p.Arg351His	p.R351H	ENST00000253458	NM_014615.3	351	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS10952.1	1052	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCGTGAGG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR17608:SF3,hmmpanther:PTHR17608,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	A:0.0005	ENSP00000253458	.	7/16	.	.	.	.	.	.	.	.	rs374600357	7/16	PASS	ENST00000253458	Transcript	.	.	ENSG00000131149	28979	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	GSE1_HUMAN	GSE1	HGNC	C9JLW9_HUMAN	.	UPI0000185F04	SNV	GSE1,missense_variant,p.Arg351His,ENST00000253458,;GSE1,missense_variant,p.Arg247His,ENST00000405402,;GSE1,missense_variant,p.Arg158His,ENST00000412692,;GSE1,missense_variant,p.Arg278His,ENST00000393243,;GSE1,downstream_gene_variant,,ENST00000411612,;RN7SL381P,upstream_gene_variant,,ENST00000577658,;	1228	177	132	SUCCESS
MC1R	4157	.	GRCh37	16	89986453	89986461	+	inframe_deletion	In_Frame_Del	DEL	CTCATCGTC	CTCATCGTC	-	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	CTCATCGTC	CTCATCGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	89	0	ENST00000555147.1:c.790_798del	p.Ile264_Leu266del	p.I264_L266del	ENST00000555147	NM_002386.3	263	CTCATCGTC/-	0	.	.	.	.	.	-	LIV/-	protein_coding	YES	CCDS56011.1	787-795	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCACACTCATCGTCCTCTG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF2,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00534,Prints_domain:PR00237	.	.	ENSP00000451605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000555147	Transcript	.	.	ENSG00000258839	6929	3	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MSHR_HUMAN	MC1R	HGNC	Q1JUL4_HUMAN	.	UPI00000622C3	deletion	MC1R,inframe_deletion,p.Ile264_Leu266del,ENST00000555147,;MC1R,inframe_deletion,p.Ile264_Leu266del,ENST00000555427,;TUBB3,inframe_deletion,p.Ile264_Leu266del,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000315491,;TUBB3,upstream_gene_variant,,ENST00000556565,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000555576,;RP11-566K11.4,non_coding_transcript_exon_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000553656,;TUBB3,upstream_gene_variant,,ENST00000555609,;MC1R,downstream_gene_variant,,ENST00000539976,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000554927,;TUBB3,upstream_gene_variant,,ENST00000557262,;AC092143.1,non_coding_transcript_exon_variant,,ENST00000540694,;	2167-2175	89	30	SUCCESS
SCARF1	8578	.	GRCh37	17	1543920	1543920	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1158791589	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	52	185	0	ENST00000263071.4:c.832A>G	p.Thr278Ala	p.T278A	ENST00000263071	NM_145350.2	278	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11007.1	832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTGTCTG	NONE	.	.	hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF0,Gene3D:2gy5A03,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000263071	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000263071	Transcript	.	.	ENSG00000074660	16820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.665)	.	tolerated(0.2)	.	SREC_HUMAN	SCARF1	HGNC	.	.	UPI00001AE868	SNV	SCARF1,missense_variant,p.Thr278Ala,ENST00000263071,;SCARF1,missense_variant,p.Thr278Ala,ENST00000348987,;SCARF1,missense_variant,p.Thr278Ala,ENST00000571272,;SCARF1,non_coding_transcript_exon_variant,,ENST00000574545,;SCARF1,missense_variant,p.Thr278Ala,ENST00000434376,;SCARF1,3_prime_UTR_variant,,ENST00000573852,;SCARF1,non_coding_transcript_exon_variant,,ENST00000576012,;SCARF1,downstream_gene_variant,,ENST00000573867,;SCARF1,upstream_gene_variant,,ENST00000570902,;	882	185	120	SUCCESS
KRTAP4-1	85285	.	GRCh37	17	39340971	39340971	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375189286	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	110	0	ENST00000398472.1:c.136C>A	p.Arg46Ser	p.R46S	ENST00000398472		46	Cgc/Agc	0	A:0.0002	A:0.0015	.	A:0	.	T	R/S	protein_coding	YES	.	136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGGCAGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262,Pfam_domain:PF13885	A:0	A:0	ENSP00000381489	A:0	1/1	.	.	.	.	.	.	.	.	rs375189286	1/1	PASS	ENST00000398472	Transcript	.	A:0.0004	ENSG00000198443	18907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.493)	A:0	deleterious(0)	.	KRA41_HUMAN	KRTAP4-1	HGNC	.	.	UPI0000246F4A	SNV	KRTAP4-1,missense_variant,p.Arg46Ser,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;	624	110	119	SUCCESS
ACLY	47	.	GRCh37	17	40030078	40030078	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	40	0	ENST00000352035.2:c.2628C>T	p.Leu876=	p.L876=	ENST00000352035	NM_001096.2	876	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11412.1	2628	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAGAGGAG	NONE	.	.	Superfamily_domains:SSF48256,PIRSF_domain:PIRSF036511,hmmpanther:PTHR23118	.	.	ENSP00000253792	.	23/29	.	.	.	.	.	.	.	.	.	23/29	PASS	ENST00000352035	Transcript	.	.	ENSG00000131473	115	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACLY_HUMAN	ACLY	HGNC	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN	.	UPI000013CDF3	SNV	ACLY,synonymous_variant,p.%3D,ENST00000353196,;ACLY,synonymous_variant,p.%3D,ENST00000590151,;ACLY,synonymous_variant,p.%3D,ENST00000352035,;ACLY,synonymous_variant,p.%3D,ENST00000537919,;ACLY,synonymous_variant,p.%3D,ENST00000393896,;ACLY,upstream_gene_variant,,ENST00000588779,;	2759	40	49	SUCCESS
PRR11	55771	.	GRCh37	17	57247167	57247167	+	synonymous_variant	Silent	SNP	A	A	G	rs943105265	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	224	96	301	0	ENST00000262293.4:c.54A>G	p.Leu18=	p.L18=	ENST00000262293	NM_018304.3	18	ttA/ttG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS11614.1	54	RADIA|SOMATICSNIPER|VARSCANS	.	AGATTATTCAA	BUFFER|p.E23fs*9|c.58delA|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23330	.	.	ENSP00000262293	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000262293	Transcript	.	.	ENSG00000068489	25619	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRR11_HUMAN	PRR11	HGNC	J3QRV0_HUMAN,J3QR53_HUMAN,D2SNZ4_HUMAN	.	UPI000006FA82	SNV	PRR11,synonymous_variant,p.%3D,ENST00000578777,;PRR11,synonymous_variant,p.%3D,ENST00000582995,;PRR11,synonymous_variant,p.%3D,ENST00000577457,;PRR11,synonymous_variant,p.%3D,ENST00000262293,;PRR11,synonymous_variant,p.%3D,ENST00000578542,;PRR11,synonymous_variant,p.%3D,ENST00000580177,;PRR11,non_coding_transcript_exon_variant,,ENST00000581182,;	366	302	320	SUCCESS
C17orf64	124773	.	GRCh37	17	58506757	58506757	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs756200782	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	47	125	0	ENST00000269127.4:c.464C>A	p.Ser155Tyr	p.S155Y	ENST00000269127	NM_181707.2	155	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS32698.2	464	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTCCTTGC	NONE	.	.	hmmpanther:PTHR21765	.	.	ENSP00000269127	.	5/6	.	.	.	.	.	.	.	.	rs756200782,COSM319028	5/6	PASS	ENST00000269127	Transcript	.	.	ENSG00000141371	26990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.695)	.	deleterious(0.05)	0,1	CQ064_HUMAN	C17orf64	HGNC	K7EQ24_HUMAN	.	UPI0000161125	SNV	C17orf64,missense_variant,p.Ser155Tyr,ENST00000269127,;C17orf64,downstream_gene_variant,,ENST00000474834,;C17orf64,downstream_gene_variant,,ENST00000461535,;RPL12P38,downstream_gene_variant,,ENST00000588627,;C17orf64,downstream_gene_variant,,ENST00000464714,;RPL12P38,downstream_gene_variant,,ENST00000471280,;	548	126	158	SUCCESS
GAA	2548	.	GRCh37	17	78092487	78092487	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	55	0	ENST00000302262.3:c.2682T>C	p.Ser894=	p.S894=	ENST00000302262	NM_000152.3	894	agT/agC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS32760.1	2682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTGAGGG	NONE	.	.	hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48	.	.	ENSP00000305692	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000302262	Transcript	.	.	ENSG00000171298	4065	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYAG_HUMAN	GAA	HGNC	I3L3L3_HUMAN,I3L0S5_HUMAN	.	UPI00000744FF	SNV	GAA,synonymous_variant,p.%3D,ENST00000390015,;GAA,synonymous_variant,p.%3D,ENST00000302262,;GAA,non_coding_transcript_exon_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000572080,;	2901	55	53	SUCCESS
APCDD1	147495	.	GRCh37	18	10485680	10485680	+	synonymous_variant	Silent	SNP	G	G	A	rs114618438	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	107	0	ENST00000355285.5:c.996G>A	p.Pro332=	p.P332=	ENST00000355285	NM_153000.4	332	ccG/ccA	0	A:0.0005	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS11849.1	996	RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGGTGTG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921	A:0.001	A:0	ENSP00000347433	A:0	4/5	.	.	.	.	.	.	.	.	rs114618438	4/5	PASS	ENST00000355285	Transcript	.	A:0.0004	ENSG00000154856	15718	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	APCD1_HUMAN	APCDD1	HGNC	.	.	UPI000000D766	SNV	APCDD1,synonymous_variant,p.%3D,ENST00000355285,;APCDD1,intron_variant,,ENST00000578882,;APCDD1,3_prime_UTR_variant,,ENST00000579685,;APCDD1,3_prime_UTR_variant,,ENST00000423585,;APCDD1,downstream_gene_variant,,ENST00000582723,;	1350	107	64	SUCCESS
FBXO15	201456	.	GRCh37	18	71791775	71791775	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs772944634	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	143	0	ENST00000419743.2:c.944A>G	p.Asn315Ser	p.N315S	ENST00000419743	NM_001142958.1	315	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS45884.1	944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGATTTGCC	NONE	byFrequency	.	hmmpanther:PTHR20995:SF16,hmmpanther:PTHR20995	.	.	ENSP00000393154	.	7/10	.	.	.	.	.	.	.	.	rs772944634	7/10	PASS	ENST00000419743	Transcript	.	.	ENSG00000141665	13617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.245)	.	tolerated(0.58)	.	FBX15_HUMAN	FBXO15	HGNC	J3QRE7_HUMAN	.	UPI00003CF23D	SNV	FBXO15,missense_variant,p.Asn315Ser,ENST00000419743,;FBXO15,missense_variant,p.Asn55Ser,ENST00000579517,;FBXO15,missense_variant,p.Asn239Ser,ENST00000269500,;FBXO15,upstream_gene_variant,,ENST00000580088,;FBXO15,3_prime_UTR_variant,,ENST00000583443,;FBXO15,3_prime_UTR_variant,,ENST00000578399,;FBXO15,3_prime_UTR_variant,,ENST00000581214,;	1024	143	107	SUCCESS
RDH8	50700	.	GRCh37	19	10129559	10129559	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	87	0	ENST00000171214.1:c.415G>A	p.Val139Met	p.V139M	ENST00000171214	NM_015725.2	139	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS12223.2	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGGTGATC	NONE	.	.	hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF259,Pfam_domain:PF00106,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000095,Superfamily_domains:SSF51735,Prints_domain:PR00081,Prints_domain:PR00080	.	.	ENSP00000466058	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000591589	Transcript	.	.	ENSG00000080511	14423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.01)	.	.	RDH8	HGNC	K7ELF7_HUMAN	.	UPI000059D661	SNV	RDH8,missense_variant,p.Val159Met,ENST00000591589,;RDH8,missense_variant,p.Val139Met,ENST00000171214,;RDH8,upstream_gene_variant,,ENST00000587782,;RDH8,intron_variant,,ENST00000589570,;	664	87	81	SUCCESS
DNM2	1785	.	GRCh37	19	10940881	10940882	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs764391392	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	83	0	ENST00000355667.6:c.2377dup	p.Leu793ProfsTer31	p.L793Pfs*31	ENST00000355667	NM_001005360.2	790	-/C	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS45969.1	2370-2371	INDELOCATOR|VARSCANI	.	CCAGGGCCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000373905	.	20/21	.	.	.	.	.	.	.	.	rs764391392,COSM1390223,COSM1390222	20/21	PASS	ENST00000389253	Transcript	1	.	ENSG00000079805	2974	7	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	DYN2_HUMAN	DNM2	HGNC	Q8N1K8_HUMAN,K7EPK9_HUMAN	.	UPI000049A626	insertion	DNM2,frameshift_variant,p.Leu789ProfsTer31,ENST00000359692,;DNM2,frameshift_variant,p.Leu793ProfsTer31,ENST00000585892,;DNM2,frameshift_variant,p.Leu793ProfsTer31,ENST00000389253,;DNM2,frameshift_variant,p.Leu793ProfsTer31,ENST00000355667,;DNM2,frameshift_variant,p.Leu793ProfsTer31,ENST00000314646,;DNM2,frameshift_variant,p.Leu82ProfsTer31,ENST00000589106,;DNM2,frameshift_variant,p.Leu789ProfsTer31,ENST00000408974,;DNM2,upstream_gene_variant,,ENST00000591818,;TMED1,downstream_gene_variant,,ENST00000589638,;TMED1,downstream_gene_variant,,ENST00000588289,;TMED1,downstream_gene_variant,,ENST00000214869,;TMED1,downstream_gene_variant,,ENST00000591695,;TMED1,downstream_gene_variant,,ENST00000586835,;DNM2,non_coding_transcript_exon_variant,,ENST00000593203,;DNM2,non_coding_transcript_exon_variant,,ENST00000590806,;TMED1,downstream_gene_variant,,ENST00000591157,;TMED1,downstream_gene_variant,,ENST00000588259,;	2482-2483	83	73	SUCCESS
SMARCA4	6597	.	GRCh37	19	11138584	11138584	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	21	109	0	ENST00000344626.4:c.3340G>A	p.Asp1114Asn	p.D1114N	ENST00000344626	NM_003072.3	1114	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS12253.1	3340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGATTAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,hmmpanther:PTHR10799:SF76,hmmpanther:PTHR10799,PROSITE_profiles:PS51194	.	.	ENSP00000395654	.	25/36	.	.	.	.	.	.	.	.	.	25/36	PASS	ENST00000429416	Transcript	1	.	ENSG00000127616	11100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SMCA4_HUMAN	SMARCA4	HGNC	B4DSI8_HUMAN,A7E2E1_HUMAN	.	UPI000006F973	SNV	SMARCA4,missense_variant,p.Asp1114Asn,ENST00000450717,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000358026,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000413806,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000444061,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000541122,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000590574,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000344626,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000589677,;SMARCA4,missense_variant,p.Asp1114Asn,ENST00000429416,;SMARCA4,upstream_gene_variant,,ENST00000592158,;SMARCA4,downstream_gene_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,downstream_gene_variant,,ENST00000587988,;	3621	109	121	SUCCESS
ZNF701	55762	.	GRCh37	19	53086658	53086658	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752835501	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	25	299	0	ENST00000301093.2:c.1544G>A	p.Arg515Gln	p.R515Q	ENST00000301093		515	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54311.1	1544	RADIA|MUTECT|MUSE	.	TAATCGAAAAT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_profiles:PS50157	.	.	ENSP00000444339	.	5/5	.	.	.	.	.	.	.	.	COSM1000609	5/5	PASS	ENST00000540331	Transcript	.	.	ENSG00000167562	25597	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.002)	.	tolerated(1)	1	.	ZNF701	HGNC	M0R085_HUMAN,F5GZM6_HUMAN	.	UPI0001C53D22	SNV	ZNF701,missense_variant,p.Arg515Gln,ENST00000540331,;ZNF701,missense_variant,p.Arg449Gln,ENST00000391785,;ZNF701,missense_variant,p.Arg515Gln,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;	1769	299	230	SUCCESS
ZNF701	55762	.	GRCh37	19	53086659	53086659	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	205	25	299	0	ENST00000301093.2:c.1545A>C	p.Arg515=	p.R515=	ENST00000301093		515	cgA/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS54311.1	1545	RADIA|MUTECT|MUSE	.	AATCGAAAATC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_profiles:PS50157	.	.	ENSP00000444339	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000540331	Transcript	.	.	ENSG00000167562	25597	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF701	HGNC	M0R085_HUMAN,F5GZM6_HUMAN	.	UPI0001C53D22	SNV	ZNF701,synonymous_variant,p.%3D,ENST00000540331,;ZNF701,synonymous_variant,p.%3D,ENST00000391785,;ZNF701,synonymous_variant,p.%3D,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;	1770	299	230	SUCCESS
PRAMEF1	65121	.	GRCh37	1	12854312	12854312	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	10	237	0	ENST00000332296.7:c.536A>G	p.His179Arg	p.H179R	ENST00000332296	NM_023013.2	179	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS148.1	536	MUTECT|MUSE	.	AGTACACCTGT	NONE	.	.	hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000332134	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000332296	Transcript	.	.	ENSG00000116721	28840	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.996)	.	tolerated(0.06)	.	PRAM1_HUMAN	PRAMEF1	HGNC	.	.	UPI00000715BF	SNV	PRAMEF1,missense_variant,p.His179Arg,ENST00000332296,;PRAMEF1,upstream_gene_variant,,ENST00000400814,;	639	237	138	SUCCESS
CD1A	909	.	GRCh37	1	158225111	158225111	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139349958	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	32	90	0	ENST00000289429.5:c.296G>A	p.Arg99His	p.R99H	ENST00000289429	NM_001763.2	99	cGt/cAt	0	A:0.0002	.	.	.	.	A	R/H	protein_coding	YES	CCDS1174.1	296	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCGTAGAT	NONE	byCluster	.	Superfamily_domains:SSF54452,Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675:SF160,hmmpanther:PTHR16675	.	A:0	ENSP00000289429	.	2/6	.	.	.	.	.	.	.	.	rs139349958	2/6	PASS	ENST00000289429	Transcript	.	.	ENSG00000158477	1634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.41)	.	CD1A_HUMAN	CD1A	HGNC	.	.	UPI0000161A54	SNV	CD1A,missense_variant,p.Arg99His,ENST00000289429,;	829	90	123	SUCCESS
COLGALT2	23127	.	GRCh37	1	183933348	183933348	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	22	0	ENST00000361927.4:c.833-194A>G		p.*278*	ENST00000361927	NM_015101.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1360.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAATAAAAA	NONE	.	.	.	.	.	ENSP00000354960	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361927	Transcript	.	.	ENSG00000198756	16790	.	.	MODIFIER	5/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GT252_HUMAN	COLGALT2	HGNC	Q5SXQ5_HUMAN,B3KT92_HUMAN	.	UPI000007423A	SNV	COLGALT2,5_prime_UTR_variant,,ENST00000367520,;COLGALT2,intron_variant,,ENST00000361927,;COLGALT2,intron_variant,,ENST00000546159,;	.	22	22	SUCCESS
C1orf35	79169	.	GRCh37	1	228289844	228289844	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	13	44	0	ENST00000272139.4:c.470G>A	p.Gly157Glu	p.G157E	ENST00000272139	NM_024319.2	157	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS1566.1	470	RADIA|SOMATICSNIPER|VARSCANS	.	CGGGCCCGCCG	NONE	.	.	hmmpanther:PTHR14580,hmmpanther:PTHR14580:SF0	.	.	ENSP00000272139	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000272139	Transcript	.	.	ENSG00000143793	19032	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.118)	.	tolerated(0.97)	.	MMTA2_HUMAN	C1orf35	HGNC	.	.	UPI000006F89B	SNV	C1orf35,missense_variant,p.Gly157Glu,ENST00000272139,;MRPL55,downstream_gene_variant,,ENST00000366746,;MRPL55,downstream_gene_variant,,ENST00000366747,;MRPL55,downstream_gene_variant,,ENST00000336300,;MRPL55,downstream_gene_variant,,ENST00000366736,;MRPL55,downstream_gene_variant,,ENST00000366733,;MRPL55,downstream_gene_variant,,ENST00000366732,;MRPL55,downstream_gene_variant,,ENST00000366731,;MRPL55,downstream_gene_variant,,ENST00000366741,;ARF1,downstream_gene_variant,,ENST00000541182,;MRPL55,downstream_gene_variant,,ENST00000366738,;MRPL55,downstream_gene_variant,,ENST00000430433,;MRPL55,downstream_gene_variant,,ENST00000391867,;MRPL55,downstream_gene_variant,,ENST00000366742,;MRPL55,downstream_gene_variant,,ENST00000366740,;MRPL55,downstream_gene_variant,,ENST00000336520,;MRPL55,downstream_gene_variant,,ENST00000366739,;ARF1,downstream_gene_variant,,ENST00000540651,;MRPL55,downstream_gene_variant,,ENST00000366734,;ARF1,downstream_gene_variant,,ENST00000272102,;MRPL55,downstream_gene_variant,,ENST00000366735,;MRPL55,downstream_gene_variant,,ENST00000348259,;MRPL55,downstream_gene_variant,,ENST00000366744,;MRPL55,downstream_gene_variant,,ENST00000411464,;MRPL55,downstream_gene_variant,,ENST00000295008,;MIR3620,downstream_gene_variant,,ENST00000584469,;C1orf35,non_coding_transcript_exon_variant,,ENST00000469781,;C1orf35,non_coding_transcript_exon_variant,,ENST00000492757,;C1orf35,non_coding_transcript_exon_variant,,ENST00000465199,;C1orf35,non_coding_transcript_exon_variant,,ENST00000472617,;C1orf35,non_coding_transcript_exon_variant,,ENST00000485896,;ARF1,downstream_gene_variant,,ENST00000473546,;MRPL55,downstream_gene_variant,,ENST00000465397,;ARF1,downstream_gene_variant,,ENST00000482962,;ARF1,downstream_gene_variant,,ENST00000478424,;ARF1,downstream_gene_variant,,ENST00000477451,;ARF1,downstream_gene_variant,,ENST00000470670,;ARF1,downstream_gene_variant,,ENST00000469235,;ARF1,downstream_gene_variant,,ENST00000497165,;C1orf35,downstream_gene_variant,,ENST00000491293,;ARF1,downstream_gene_variant,,ENST00000478336,;ARF1,downstream_gene_variant,,ENST00000473949,;ARF1,downstream_gene_variant,,ENST00000490705,;ARF1,downstream_gene_variant,,ENST00000477821,;ARF1,downstream_gene_variant,,ENST00000470558,;MRPL55,downstream_gene_variant,,ENST00000465268,;MRPL55,downstream_gene_variant,,ENST00000459783,;	705	44	65	SUCCESS
NLRP3	114548	.	GRCh37	1	247607349	247607349	+	synonymous_variant	Silent	SNP	G	G	A	rs201764635	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	29	96	0	ENST00000336119.3:c.2745G>A	p.Thr915=	p.T915=	ENST00000336119	NM_001127462.2	915	acG/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1632.1	2745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACGCACCT	BUFFER|p.L919P|c.2756T>C|3	byFrequency|byCluster	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,Pfam_domain:PF13516,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4	.	.	ENSP00000337383	.	7/9	.	.	.	.	.	.	.	.	rs201764635	7/9	PASS	ENST00000336119	Transcript	.	.	ENSG00000162711	16400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALP3_HUMAN	NLRP3	HGNC	Q65Z67_HUMAN,B7ZKS9_HUMAN	.	UPI00001CE3AD	SNV	NLRP3,synonymous_variant,p.%3D,ENST00000366496,;NLRP3,synonymous_variant,p.%3D,ENST00000336119,;NLRP3,synonymous_variant,p.%3D,ENST00000391827,;NLRP3,synonymous_variant,p.%3D,ENST00000366497,;NLRP3,synonymous_variant,p.%3D,ENST00000391828,;NLRP3,synonymous_variant,p.%3D,ENST00000348069,;NLRP3,non_coding_transcript_exon_variant,,ENST00000532083,;	3491	96	137	SUCCESS
OR14K1	343170	.	GRCh37	1	247902094	247902094	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1177022710	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	45	75	0	ENST00000283225.2:c.178T>C	p.Phe60Leu	p.F60L	ENST00000283225		60	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	.	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTTTCCTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000283225	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000283225	Transcript	.	.	ENSG00000153230	15025	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.463)	.	deleterious(0.02)	.	O14K1_HUMAN	OR14K1	HGNC	.	.	UPI0000041CBA	SNV	OR14K1,missense_variant,p.Phe60Leu,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	178	76	117	SUCCESS
MATN4	8785	.	GRCh37	20	43934157	43934157	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1044592691	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	33	0	ENST00000372754.1:c.66G>C	p.Gln22His	p.Q22H	ENST00000372754		22	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS13348.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAACTGGAG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF53300	.	.	ENSP00000440328	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000537548	Transcript	.	.	ENSG00000124159	6910	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	.	.	MATN4_HUMAN	MATN4	HGNC	.	.	UPI000016054E	SNV	MATN4,missense_variant,p.Gln22His,ENST00000372754,;MATN4,missense_variant,p.Gln22His,ENST00000537548,;MATN4,missense_variant,p.Gln22His,ENST00000360607,;MATN4,missense_variant,p.Gln22His,ENST00000372751,;MATN4,missense_variant,p.Gln22His,ENST00000372756,;MATN4,missense_variant,p.Gln22His,ENST00000353917,;MATN4,missense_variant,p.Gln22His,ENST00000342716,;RBPJL,upstream_gene_variant,,ENST00000372741,;RBPJL,upstream_gene_variant,,ENST00000343694,;RBPJL,upstream_gene_variant,,ENST00000372743,;	311	33	46	SUCCESS
DSCAM	1826	.	GRCh37	21	41725589	41725589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	46	0	ENST00000400454.1:c.737G>T	p.Cys246Phe	p.C246F	ENST00000400454	NM_001271534.1	246	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS42929.1	737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCAAGGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000383303	.	5/33	.	.	.	.	.	.	.	.	.	5/33	PASS	ENST00000400454	Transcript	.	.	ENSG00000171587	3039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,missense_variant,p.Cys246Phe,ENST00000400454,;DSCAM,upstream_gene_variant,,ENST00000404019,;	1215	46	49	SUCCESS
GNAZ	2781	.	GRCh37	22	23438485	23438485	+	synonymous_variant	Silent	SNP	C	C	T	rs375941406	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	41	0	ENST00000248996.4:c.603C>T	p.Asp201=	p.D201=	ENST00000248996	NM_002073.2	201	gaC/gaT	0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS13804.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGACGTGGG	NONE	byCluster|by1000G	.	Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF65,hmmpanther:PTHR10218	T:0	T:0.0001	ENSP00000248996	T:0.001	2/3	.	.	.	.	.	.	.	.	rs375941406,COSM579689	2/3	PASS	ENST00000248996	Transcript	.	T:0.0002	ENSG00000128266	4395	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	GNAZ_HUMAN	GNAZ	HGNC	.	.	UPI0000001249	SNV	GNAZ,synonymous_variant,p.%3D,ENST00000248996,;RTDR1,intron_variant,,ENST00000216036,;GNAZ,downstream_gene_variant,,ENST00000492538,;	1269	41	34	SUCCESS
GATSL3	0	.	GRCh37	22	30683518	30683518	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	46	0	ENST00000407689.3:c.216T>G	p.Ala72=	p.A72=	ENST00000407689	NM_001037666.2	72	gcT/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS43001.1	216	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCAGCTAC	NONE	.	.	hmmpanther:PTHR31131,hmmpanther:PTHR31131:SF3,Pfam_domain:PF13840,Gene3D:1zvpA00,Prints_domain:PR02078	.	.	ENSP00000384183	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000407689	Transcript	.	.	ENSG00000239282	34423	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GATL3_HUMAN	GATSL3	HGNC	.	.	UPI0000071943	SNV	GATSL3,synonymous_variant,p.%3D,ENST00000404953,;GATSL3,synonymous_variant,p.%3D,ENST00000407689,;RP1-130H16.18,synonymous_variant,p.%3D,ENST00000434291,;TBC1D10A,downstream_gene_variant,,ENST00000215790,;TBC1D10A,downstream_gene_variant,,ENST00000403362,;TBC1D10A,downstream_gene_variant,,ENST00000403477,;GATSL3,non_coding_transcript_exon_variant,,ENST00000498572,;GATSL3,non_coding_transcript_exon_variant,,ENST00000464854,;GATSL3,upstream_gene_variant,,ENST00000459785,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000434987,;GATSL3,3_prime_UTR_variant,,ENST00000415484,;GATSL3,3_prime_UTR_variant,,ENST00000440704,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000447976,;GATSL3,3_prime_UTR_variant,,ENST00000425691,;GATSL3,3_prime_UTR_variant,,ENST00000421236,;GATSL3,3_prime_UTR_variant,,ENST00000440839,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000330168,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000418047,;GATSL3,non_coding_transcript_exon_variant,,ENST00000492159,;GATSL3,non_coding_transcript_exon_variant,,ENST00000471480,;GATSL3,non_coding_transcript_exon_variant,,ENST00000463795,;GATSL3,non_coding_transcript_exon_variant,,ENST00000497605,;TBC1D10A,downstream_gene_variant,,ENST00000433426,;TBC1D10A,downstream_gene_variant,,ENST00000467596,;TBC1D10A,downstream_gene_variant,,ENST00000462073,;	346	46	41	SUCCESS
IL1RL2	8808	.	GRCh37	2	102808479	102808479	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	246	56	336	0	ENST00000264257.2:c.388G>A	p.Asp130Asn	p.D130N	ENST00000264257	NM_003854.2	130	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2056.1	388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCAGATGAG	NONE	.	.	Pfam_domain:PF13895,hmmpanther:PTHR11890:SF9,hmmpanther:PTHR11890,PROSITE_profiles:PS50835	.	.	ENSP00000264257	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000264257	Transcript	.	.	ENSG00000115598	5999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.4)	.	ILRL2_HUMAN	IL1RL2	HGNC	C9K0I8_HUMAN	.	UPI000013D4ED	SNV	IL1RL2,missense_variant,p.Asp130Asn,ENST00000264257,;IL1RL2,missense_variant,p.Asp130Asn,ENST00000539491,;IL1RL2,missense_variant,p.Asp130Asn,ENST00000421464,;IL1RL2,intron_variant,,ENST00000441515,;IL1RL2,intron_variant,,ENST00000481806,;	514	336	302	SUCCESS
MAP3K2	10746	.	GRCh37	2	128084382	128084382	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs767432874	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	23	63	0	ENST00000344908.5:c.478A>G	p.Arg160Gly	p.R160G	ENST00000344908	NM_006609.4	160	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS46404.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTACTAG	NONE	.	.	hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF37	.	.	ENSP00000387246	.	8/17	.	.	.	.	.	.	.	.	rs767432874	8/17	PASS	ENST00000409947	Transcript	.	.	ENSG00000169967	6854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	tolerated(0.3)	.	M3K2_HUMAN	MAP3K2	HGNC	Q96K88_HUMAN,F8W6K3_HUMAN	.	UPI0000208C78	SNV	MAP3K2,missense_variant,p.Arg160Gly,ENST00000409947,;MAP3K2,missense_variant,p.Arg160Gly,ENST00000344908,;	761	63	79	SUCCESS
ZRANB3	84083	.	GRCh37	2	136026637	136026637	+	synonymous_variant	Silent	SNP	T	T	C	rs1299824162	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	36	67	0	ENST00000264159.6:c.1281A>G	p.Ala427=	p.A427=	ENST00000264159	NM_032143.2	427	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS46419.1	1281	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGCTTG	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF205,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000264159	.	11/21	.	.	.	.	.	.	.	.	.	11/21	PASS	ENST00000264159	Transcript	.	.	ENSG00000121988	25249	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZRAB3_HUMAN	ZRANB3	HGNC	.	.	UPI0000509F0C	SNV	ZRANB3,synonymous_variant,p.%3D,ENST00000401392,;ZRANB3,synonymous_variant,p.%3D,ENST00000536680,;ZRANB3,synonymous_variant,p.%3D,ENST00000264159,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000452187,;ZRANB3,3_prime_UTR_variant,,ENST00000403017,;	1398	67	77	SUCCESS
THSD7B	80731	.	GRCh37	2	138169226	138169226	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1226457331	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	4	87	0	ENST00000272643.3:c.2743C>G	p.Leu915Val	p.L915V	ENST00000272643		915	Cta/Gta	0	.	.	.	.	.	G	L/V	protein_coding	YES	.	2743	MUTECT|MUSE	.	ACCCTCTAGTG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR11311:SF7,hmmpanther:PTHR11311,Gene3D:2.20.100.10,SMART_domains:SM00209	.	.	ENSP00000272643	.	13/28	.	.	.	.	.	.	.	.	COSM716695,COSM1148316	13/28	PASS	ENST00000272643	Transcript	.	.	ENSG00000144229	29348	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	possibly_damaging(0.567)	.	deleterious(0.04)	1,1	THS7B_HUMAN	THSD7B	HGNC	.	.	UPI00015E0A18	SNV	THSD7B,missense_variant,p.Leu915Val,ENST00000409968,;THSD7B,missense_variant,p.Leu884Val,ENST00000413152,;THSD7B,missense_variant,p.Leu915Val,ENST00000272643,;THSD7B,intron_variant,,ENST00000543459,;	2743	87	82	SUCCESS
TPO	7173	.	GRCh37	2	1442606	1442606	+	intron_variant	Intron	SNP	C	C	T	rs753304094	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	20	67	0	ENST00000329066.4:c.482+2450C>T		p.*161*	ENST00000329066	NM_001206744.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1643.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCCGACCA	NONE	.	.	.	.	.	ENSP00000318820	.	.	.	.	.	.	.	.	.	.	rs753304094	.	PASS	ENST00000345913	Transcript	.	.	ENSG00000115705	12015	.	.	MODIFIER	5/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PERT_HUMAN	TPO	HGNC	Q53QT2_HUMAN,C9J511_HUMAN	.	UPI000013D480	SNV	TPO,synonymous_variant,p.%3D,ENST00000539820,;TPO,synonymous_variant,p.%3D,ENST00000382269,;TPO,intron_variant,,ENST00000329066,;TPO,intron_variant,,ENST00000337415,;TPO,intron_variant,,ENST00000382198,;TPO,intron_variant,,ENST00000382201,;TPO,intron_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000346956,;TPO,intron_variant,,ENST00000422464,;TPO,intron_variant,,ENST00000345913,;TPO,intron_variant,,ENST00000497517,;	.	67	50	SUCCESS
MYT1L	23040	.	GRCh37	2	1926738	1926738	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	116	0	ENST00000399161.2:c.803T>C	p.Leu268Ser	p.L268S	ENST00000399161	NM_015025.2	268	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS46222.1	803	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTAATAGT	NONE	.	.	hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	.	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Leu268Ser,ENST00000399161,;MYT1L,missense_variant,p.Leu268Ser,ENST00000428368,;MYT1L,upstream_gene_variant,,ENST00000602387,;	1473	116	115	SUCCESS
WDR12	55759	.	GRCh37	2	203765765	203765765	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	68	0	ENST00000261015.4:c.214A>G	p.Met72Val	p.M72V	ENST00000261015	NM_018256.3	72	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS2356.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCATTTCCA	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_03029,hmmpanther:PTHR19855	.	.	ENSP00000261015	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000261015	Transcript	.	.	ENSG00000138442	14098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	WDR12_HUMAN	WDR12	HGNC	Q53T99_HUMAN	.	UPI0000138ED2	SNV	WDR12,missense_variant,p.Met72Val,ENST00000261015,;WDR12,non_coding_transcript_exon_variant,,ENST00000477723,;WDR12,non_coding_transcript_exon_variant,,ENST00000478869,;	964	68	62	SUCCESS
IDH1	3417	.	GRCh37	2	209104688	209104688	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	75	0	ENST00000345146.2:c.890G>C	p.Cys297Ser	p.C297S	ENST00000345146	NM_005896.2	297	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS2381.1	890	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACAAACC	NONE	.	.	Superfamily_domains:SSF53659,PIRSF_domain:PIRSF000108,Pfam_domain:PF00180,Gene3D:3.40.718.10,TIGRFAM_domain:TIGR00127,hmmpanther:PTHR11822	.	.	ENSP00000390265	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000415913	Transcript	.	.	ENSG00000138413	5382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated_low_confidence(0.21)	.	IDHC_HUMAN	IDH1	HGNC	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN	.	UPI000012D1B4	SNV	IDH1,missense_variant,p.Cys297Ser,ENST00000415913,;IDH1,missense_variant,p.Cys297Ser,ENST00000345146,;IDH1,missense_variant,p.Cys297Ser,ENST00000446179,;IDH1,non_coding_transcript_exon_variant,,ENST00000484575,;	1272	75	47	SUCCESS
ERBB4	2066	.	GRCh37	2	212251640	212251640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	22	127	0	ENST00000342788.4:c.3419G>T	p.Ser1140Ile	p.S1140I	ENST00000342788	NM_005235.2	1140	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS2394.1	3419	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCTCCGT	NONE	.	.	PIRSF_domain:PIRSF000619	.	.	ENSP00000342235	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000342788	Transcript	.	.	ENSG00000178568	3432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	deleterious(0.03)	.	ERBB4_HUMAN	ERBB4	HGNC	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN	.	UPI00000499DF	SNV	ERBB4,missense_variant,p.Ser1130Ile,ENST00000402597,;ERBB4,missense_variant,p.Ser1124Ile,ENST00000436443,;ERBB4,missense_variant,p.Ser1140Ile,ENST00000342788,;	3730	127	113	SUCCESS
XRCC5	7520	.	GRCh37	2	216977745	216977745	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	91	0	ENST00000392132.2:c.28G>A	p.Val10Ile	p.V10I	ENST00000392132	NM_021141.3	10	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS2402.1	28	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGTTGTG	NONE	.	.	Superfamily_domains:SSF53300,PIRSF_domain:PIRSF016570,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF03731,hmmpanther:PTHR12604,hmmpanther:PTHR12604:SF3	.	.	ENSP00000375978	.	4/23	.	.	.	.	.	.	.	.	.	4/23	PASS	ENST00000392133	Transcript	.	.	ENSG00000079246	12833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.86)	.	XRCC5_HUMAN	XRCC5	HGNC	Q53TC2_HUMAN,Q53T09_HUMAN,C9JZ81_HUMAN	.	UPI0000034133	SNV	XRCC5,missense_variant,p.Val10Ile,ENST00000392132,;XRCC5,missense_variant,p.Val10Ile,ENST00000392133,;XRCC5,5_prime_UTR_variant,,ENST00000417391,;XRCC5,non_coding_transcript_exon_variant,,ENST00000429133,;XRCC5,non_coding_transcript_exon_variant,,ENST00000476360,;XRCC5,upstream_gene_variant,,ENST00000460284,;XRCC5,upstream_gene_variant,,ENST00000451695,;	489	91	83	SUCCESS
IGFBP5	3488	.	GRCh37	2	217559447	217559447	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759992658	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	25	84	0	ENST00000233813.4:c.52G>A	p.Ala18Thr	p.A18T	ENST00000233813	NM_000599.3	18	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2405.1	52	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCGGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF4	.	.	ENSP00000233813	.	1/4	.	.	.	.	.	.	.	.	rs759992658	1/4	PASS	ENST00000233813	Transcript	.	.	ENSG00000115461	5474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.53)	.	IBP5_HUMAN	IGFBP5	HGNC	.	.	UPI000004E58C	SNV	IGFBP5,missense_variant,p.Ala18Thr,ENST00000233813,;IGFBP5,missense_variant,p.Ala18Thr,ENST00000449583,;AC007563.5,non_coding_transcript_exon_variant,,ENST00000447289,;IGFBP5,upstream_gene_variant,,ENST00000486341,;	802	84	76	SUCCESS
SLC4A3	6508	.	GRCh37	2	220502908	220502908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	62	0	ENST00000317151.3:c.2789T>A	p.Phe930Tyr	p.F930Y	ENST00000317151		930	tTt/tAt	0	.	.	.	.	.	A	F/Y	protein_coding	YES	CCDS2446.1	2870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTTTGGCA	NONE	.	.	Prints_domain:PR01231,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Transmembrane_helices:TMhelix	.	.	ENSP00000362867	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,missense_variant,p.Phe930Tyr,ENST00000373760,;SLC4A3,missense_variant,p.Phe957Tyr,ENST00000273063,;SLC4A3,missense_variant,p.Phe930Tyr,ENST00000317151,;SLC4A3,missense_variant,p.Phe930Tyr,ENST00000358055,;SLC4A3,missense_variant,p.Phe957Tyr,ENST00000373762,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,downstream_gene_variant,,ENST00000416910,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	3139	62	34	SUCCESS
ASXL2	55252	.	GRCh37	2	25966699	25966699	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	83	0	ENST00000435504.4:c.2507C>T	p.Thr836Ile	p.T836I	ENST00000435504		836	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	.	2507	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCTGTTGGA	NONE	.	.	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	.	.	ENSP00000391447	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000435504	Transcript	.	.	ENSG00000143970	23805	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.187)	.	deleterious_low_confidence(0.04)	.	ASXL2_HUMAN	ASXL2	HGNC	.	.	UPI00001DFBE8	SNV	ASXL2,missense_variant,p.Thr576Ile,ENST00000272341,;ASXL2,missense_variant,p.Thr808Ile,ENST00000336112,;ASXL2,missense_variant,p.Thr576Ile,ENST00000404843,;ASXL2,missense_variant,p.Thr836Ile,ENST00000435504,;	2801	83	76	SUCCESS
FOSL2	2355	.	GRCh37	2	28635208	28635208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	48	0	ENST00000264716.4:c.874T>C	p.Ser292Pro	p.S292P	ENST00000264716	NM_005253.3	292	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS1766.1	874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGTCACCC	NONE	.	.	hmmpanther:PTHR23351:SF25,hmmpanther:PTHR23351	.	.	ENSP00000264716	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000264716	Transcript	.	.	ENSG00000075426	3798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.07)	.	FOSL2_HUMAN	FOSL2	HGNC	C9JCN8_HUMAN	.	UPI000004F8AB	SNV	FOSL2,missense_variant,p.Ser292Pro,ENST00000264716,;FOSL2,missense_variant,p.Ser284Pro,ENST00000379619,;FOSL2,missense_variant,p.Ser253Pro,ENST00000545753,;FOSL2,downstream_gene_variant,,ENST00000436647,;FOSL2,downstream_gene_variant,,ENST00000460736,;	1737	48	38	SUCCESS
IGKV1-27	28935	.	GRCh37	2	89513381	89513381	+	start_lost	Translation_Start_Site	SNP	A	A	T	rs779399606	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	30	108	0	ENST00000498435.1:c.2T>A	p.Met1?	p.M1?	ENST00000498435		1	aTg/aAg	0	.	.	.	.	.	T	M/K	IG_V_gene	YES	.	2	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCATGCTG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000418903	.	1/2	.	.	.	.	.	.	.	.	rs779399606	1/2	PASS	ENST00000498435	Transcript	.	.	ENSG00000244575	5735	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious_low_confidence(0)	.	.	IGKV1-27	HGNC	.	.	UPI000173A598	SNV	IGKV1-27,start_lost,p.Met1?,ENST00000498435,;	33	108	99	SUCCESS
ADCY5	111	.	GRCh37	3	123166784	123166784	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	40	0	ENST00000462833.1:c.609G>A	p.Leu203=	p.L203=	ENST00000462833	NM_183357.2	203	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3022.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGACAGCAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	.	.	ENSP00000419361	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000462833	Transcript	.	.	ENSG00000173175	236	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY5_HUMAN	ADCY5	HGNC	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN	.	UPI000015E262	SNV	ADCY5,synonymous_variant,p.%3D,ENST00000462833,;	1822	40	39	SUCCESS
TRIM42	287015	.	GRCh37	3	140406640	140406640	+	synonymous_variant	Silent	SNP	G	G	A	rs1246150462	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	188	0	ENST00000286349.3:c.1116G>A	p.Lys372=	p.K372=	ENST00000286349	NM_152616.4	372	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3113.1	1116	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAGCGAAA	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273	.	.	ENSP00000286349	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000286349	Transcript	.	.	ENSG00000155890	19014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI42_HUMAN	TRIM42	HGNC	.	.	UPI00001AEAE0	SNV	TRIM42,synonymous_variant,p.%3D,ENST00000286349,;	1307	188	129	SUCCESS
MECOM	2122	.	GRCh37	3	168840444	168840444	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1427543297	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	123	0	ENST00000468789.1:c.338A>T	p.Asn113Ile	p.N113I	ENST00000468789	NM_001105078.3	113	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS54670.1	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGTTAAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24393,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000264674	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000264674	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EVI1_HUMAN	MECOM	HGNC	Q9UBK3_HUMAN,Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN,D3DNP4_HUMAN	.	UPI00015D43FA	SNV	MECOM,missense_variant,p.Asn113Ile,ENST00000472280,;MECOM,missense_variant,p.Asn113Ile,ENST00000460814,;MECOM,missense_variant,p.Asn113Ile,ENST00000484519,;MECOM,missense_variant,p.Asn113Ile,ENST00000464456,;MECOM,missense_variant,p.Asn113Ile,ENST00000392736,;MECOM,missense_variant,p.Asn301Ile,ENST00000494292,;MECOM,missense_variant,p.Asn113Ile,ENST00000468789,;MECOM,missense_variant,p.Asn113Ile,ENST00000433243,;MECOM,missense_variant,p.Asn88Ile,ENST00000492586,;MECOM,missense_variant,p.Asn177Ile,ENST00000264674,;MECOM,downstream_gene_variant,,ENST00000460890,;MECOM,downstream_gene_variant,,ENST00000487503,;MECOM,downstream_gene_variant,,ENST00000494597,;MECOM,non_coding_transcript_exon_variant,,ENST00000461430,;	669	123	89	SUCCESS
PCDH18	54510	.	GRCh37	4	138451749	138451749	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	99	1	ENST00000344876.4:c.1494G>A	p.Gly498=	p.G498=	ENST00000344876	NM_019035.3	498	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS34064.1	1494	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCCCATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,synonymous_variant,p.%3D,ENST00000344876,;PCDH18,synonymous_variant,p.%3D,ENST00000507846,;PCDH18,synonymous_variant,p.%3D,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	1881	101	57	SUCCESS
TRIM61	391712	.	GRCh37	4	165890830	165890830	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs751482248	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	30	165	1	ENST00000329314.5:c.325C>T	p.Gln109Ter	p.Q109*	ENST00000329314	NM_001012414.2	109	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS34093.1	325	RADIA|VARSCANS	.	TTTCTGACAGA	NONE	byFrequency	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF304,Pfam_domain:PF00643,Gene3D:1freA00,Superfamily_domains:SSF57845	.	.	ENSP00000332288	.	3/5	.	.	.	.	.	.	.	.	rs751482248	3/5	PASS	ENST00000329314	Transcript	.	.	ENSG00000183439	24339	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI61_HUMAN	TRIM61	HGNC	.	.	UPI00004CEC1B	SNV	TRIM61,stop_gained,p.Gln109Ter,ENST00000329314,;RP11-366M4.11,non_coding_transcript_exon_variant,,ENST00000508856,;RP11-366M4.8,intron_variant,,ENST00000596751,;	938	166	161	SUCCESS
KIT	3815	.	GRCh37	4	55595596	55595596	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781588289	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	14	70	0	ENST00000288135.5:c.2086G>T	p.Asp696Tyr	p.D696Y	ENST00000288135	NM_000222.2	696	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS3496.1	2086	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGATCAT	CODON|p.E695E|c.2085A>G|3,BUFFER|p.H697Y|c.2089C>T|3	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112	.	.	ENSP00000288135	.	14/21	.	.	.	.	.	.	.	.	rs781588289	14/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0.01)	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Asp692Tyr,ENST00000412167,;KIT,missense_variant,p.Asp696Tyr,ENST00000288135,;KIT,non_coding_transcript_exon_variant,,ENST00000512959,;	2183	70	60	SUCCESS
C4orf26	0	.	GRCh37	4	76489344	76489344	+	synonymous_variant	Silent	SNP	C	C	A	rs749452933	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	83	0	ENST00000435974.2:c.132C>A	p.Arg44=	p.R44=	ENST00000435974	NM_001206981.1	44	cgC/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS56334.1	132	RADIA|MUTECT|MUSE|VARSCANS	.	TTACGCCTCCT	NONE	.	.	.	.	.	ENSP00000406925	.	3/3	.	.	.	.	.	.	.	.	rs749452933	3/3	PASS	ENST00000435974	Transcript	1	.	ENSG00000174792	26300	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD026_HUMAN	C4orf26	HGNC	.	.	UPI0001AE74FF	SNV	C4orf26,missense_variant,p.Pro30Thr,ENST00000311623,;C4orf26,synonymous_variant,p.%3D,ENST00000435974,;C4orf26,downstream_gene_variant,,ENST00000514064,;C4orf26,3_prime_UTR_variant,,ENST00000511093,;	150	83	73	SUCCESS
THAP9	79725	.	GRCh37	4	83827764	83827764	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	50	183	0	ENST00000302236.5:c.564A>T	p.Leu188=	p.L188=	ENST00000302236	NM_024672.4	188	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3598.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCTACGAGC	NONE	.	.	hmmpanther:PTHR10725,hmmpanther:PTHR10725:SF6	.	.	ENSP00000305533	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000302236	Transcript	.	.	ENSG00000168152	23192	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THAP9_HUMAN	THAP9	HGNC	.	.	UPI0000367262	SNV	THAP9,synonymous_variant,p.%3D,ENST00000302236,;LIN54,downstream_gene_variant,,ENST00000505905,;THAP9,synonymous_variant,p.%3D,ENST00000506208,;THAP9,3_prime_UTR_variant,,ENST00000505901,;THAP9,3_prime_UTR_variant,,ENST00000509353,;THAP9,3_prime_UTR_variant,,ENST00000514244,;THAP9,downstream_gene_variant,,ENST00000514440,;	615	183	224	SUCCESS
BRD8	10902	.	GRCh37	5	137475827	137475827	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	12	100	0	ENST00000254900.5:c.3644A>G	p.Lys1215Arg	p.K1215R	ENST00000254900	NM_139199.1	1215	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS4198.1	3644	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTTTTCTT	NONE	.	.	.	.	.	ENSP00000254900	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated_low_confidence(0.61)	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,missense_variant,p.Lys1215Arg,ENST00000254900,;NME5,upstream_gene_variant,,ENST00000265191,;BRD8,downstream_gene_variant,,ENST00000427976,;NME5,upstream_gene_variant,,ENST00000512954,;NME5,upstream_gene_variant,,ENST00000511353,;	4016	100	95	SUCCESS
CDHR2	54825	.	GRCh37	5	176016108	176016108	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	69	0	ENST00000261944.5:c.2933G>T	p.Gly978Val	p.G978V	ENST00000261944	NM_017675.4	978	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34297.1	2933	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGGGGCCA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF286,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000424565	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000510636	Transcript	.	.	ENSG00000074276	18231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	CDHR2_HUMAN	CDHR2	HGNC	.	.	UPI0000DBEE8C	SNV	CDHR2,missense_variant,p.Gly978Val,ENST00000261944,;CDHR2,missense_variant,p.Gly978Val,ENST00000506348,;CDHR2,missense_variant,p.Gly978Val,ENST00000510636,;CDHR2,non_coding_transcript_exon_variant,,ENST00000513031,;CDHR2,non_coding_transcript_exon_variant,,ENST00000508085,;CDHR2,upstream_gene_variant,,ENST00000416365,;	3207	70	72	SUCCESS
DAB2	1601	.	GRCh37	5	39383019	39383019	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	51	0	ENST00000320816.6:c.1042G>T	p.Asp348Tyr	p.D348Y	ENST00000320816	NM_001343.3	348	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS34149.1	1042	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCAAATT	NONE	.	.	hmmpanther:PTHR11232:SF30,hmmpanther:PTHR11232	.	.	ENSP00000313391	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000320816	Transcript	.	.	ENSG00000153071	2662	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	DAB2_HUMAN	DAB2	HGNC	D6RIA5_HUMAN,D6RGZ1_HUMAN,D6REB1_HUMAN	.	UPI0000169E27	SNV	DAB2,missense_variant,p.Asp327Tyr,ENST00000509337,;DAB2,missense_variant,p.Asp327Tyr,ENST00000545653,;DAB2,missense_variant,p.Asp348Tyr,ENST00000320816,;DAB2,intron_variant,,ENST00000339788,;C9,intron_variant,,ENST00000483232,;DAB2,downstream_gene_variant,,ENST00000512525,;DAB2,downstream_gene_variant,,ENST00000505968,;	1510	51	39	SUCCESS
RASA1	5921	.	GRCh37	5	86629119	86629119	+	synonymous_variant	Silent	SNP	A	A	G	rs777884338	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	86	326	0	ENST00000274376.6:c.864A>G	p.Leu288=	p.L288=	ENST00000274376	NM_002890.2	288	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34200.1	864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTACCTTA	BUFFER|p.R108*|c.322C>T|3,BUFFER|p.R285*|c.853C>T|4	byFrequency	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10194,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000274376	.	4/25	.	.	.	.	.	.	.	.	rs777884338	4/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,synonymous_variant,p.%3D,ENST00000512763,;RASA1,synonymous_variant,p.%3D,ENST00000456692,;RASA1,synonymous_variant,p.%3D,ENST00000274376,;RASA1,synonymous_variant,p.%3D,ENST00000506290,;RASA1,synonymous_variant,p.%3D,ENST00000515800,;RASA1,upstream_gene_variant,,ENST00000509953,;	1428	326	268	SUCCESS
REV3L	5980	.	GRCh37	6	111694493	111694493	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	85	0	ENST00000358835.3:c.5065C>A	p.Gln1689Lys	p.Q1689K	ENST00000358835		1689	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS5091.2	5065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTGTCCTG	NONE	.	.	hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322	.	.	ENSP00000351697	.	14/33	.	.	.	.	.	.	.	.	.	14/33	PASS	ENST00000358835	Transcript	.	.	ENSG00000009413	9968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.48)	.	deleterious(0.02)	.	DPOLZ_HUMAN	REV3L	HGNC	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN	.	UPI0000140023	SNV	REV3L,missense_variant,p.Gln1611Lys,ENST00000435970,;REV3L,missense_variant,p.Gln1689Lys,ENST00000358835,;REV3L,missense_variant,p.Gln1689Lys,ENST00000368802,;REV3L,missense_variant,p.Gln1689Lys,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000422377,;	5520	85	72	SUCCESS
DLL1	28514	.	GRCh37	6	170592454	170592454	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780734657	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	42	0	ENST00000366756.3:c.1913C>T	p.Ala638Val	p.A638V	ENST00000366756	NM_005618.3	638	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5313.1	1913	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGCTGGG	NONE	byFrequency	.	.	.	.	ENSP00000355718	.	9/11	.	.	.	.	.	.	.	.	rs780734657,COSM2855595	9/11	PASS	ENST00000366756	Transcript	.	.	ENSG00000198719	2908	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.029)	.	tolerated(0.28)	0,1	DLL1_HUMAN	DLL1	HGNC	.	.	UPI000004C656	SNV	DLL1,missense_variant,p.Ala638Val,ENST00000366756,;RP5-894D12.3,downstream_gene_variant,,ENST00000438622,;RP5-894D12.3,downstream_gene_variant,,ENST00000607074,;RP5-894D12.3,downstream_gene_variant,,ENST00000422894,;	2247	42	19	SUCCESS
GPX6	257202	.	GRCh37	6	28483513	28483513	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1295128498	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	140	13	100	0	ENST00000361902.1:c.8A>G	p.Gln3Arg	p.Q3R	ENST00000361902	NM_182701.1	3	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS43432.1	8	MUTECT|MUSE|VARSCANS	.	ACTGCTGGAAC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11592:SF15,hmmpanther:PTHR11592	.	.	ENSP00000354581	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000361902	Transcript	.	.	ENSG00000198704	4558	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated_low_confidence(0.71)	.	GPX6_HUMAN	GPX6	HGNC	A3KN74_HUMAN	.	UPI00001B2975	SNV	GPX6,missense_variant,p.Gln3Arg,ENST00000361902,;GPX6,missense_variant,p.Gln3Arg,ENST00000474923,;GPX6,intron_variant,,ENST00000483058,;	58	100	154	SUCCESS
OR5V1	81696	.	GRCh37	6	29323776	29323776	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	32	101	0	ENST00000377154.1:c.197T>G	p.Leu66Trp	p.L66W	ENST00000377154		66	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS4657.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCAAGTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF0,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000366359	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377154	Transcript	.	.	ENSG00000243729	13972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OR5V1_HUMAN	OR5V1	HGNC	.	.	UPI000004186B	SNV	OR5V1,missense_variant,p.Leu66Trp,ENST00000543825,;OR5V1,missense_variant,p.Leu66Trp,ENST00000377154,;	497	101	143	SUCCESS
C6orf89	221477	.	GRCh37	6	36853773	36853773	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	60	0	ENST00000373685.1:c.-142C>T		p.*48*	ENST00000373685				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4827.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGAGGCGGGAG	NONE	.	.	.	.	.	ENSP00000347322	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000355190	Transcript	.	.	ENSG00000198663	21114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CF089_HUMAN	C6orf89	HGNC	Q5TDC5_HUMAN	.	UPI000035E870	SNV	C6orf89,5_prime_UTR_variant,,ENST00000373685,;C6orf89,5_prime_UTR_variant,,ENST00000355190,;C6orf89,5_prime_UTR_variant,,ENST00000480824,;C6orf89,intron_variant,,ENST00000510325,;C6orf89,intron_variant,,ENST00000359359,;	134	60	68	SUCCESS
TRERF1	55809	.	GRCh37	6	42204142	42204142	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	42	0	ENST00000372922.4:c.2867A>T	p.Glu956Val	p.E956V	ENST00000372922	NM_033502.2	956	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4867.1	2867	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTTCTTCACTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089	.	.	ENSP00000362013	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.403)	.	tolerated(0.08)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Glu976Val,ENST00000541110,;TRERF1,missense_variant,p.Glu873Val,ENST00000340840,;TRERF1,missense_variant,p.Glu956Val,ENST00000372922,;TRERF1,missense_variant,p.Glu873Val,ENST00000372917,;TRERF1,missense_variant,p.Glu873Val,ENST00000354325,;	3430	42	59	SUCCESS
TCTE1	202500	.	GRCh37	6	44255594	44255594	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	65	102	0	ENST00000371505.4:c.-32G>C		p.*11*	ENST00000371505	NM_182539.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4910.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCCCTGG	NONE	.	.	.	.	.	ENSP00000360560	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000371505	Transcript	.	.	ENSG00000146221	11693	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCTE1_HUMAN	TCTE1	HGNC	.	.	UPI0000160BC0	SNV	TCTE1,5_prime_UTR_variant,,ENST00000371505,;TCTE1,5_prime_UTR_variant,,ENST00000371503,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,upstream_gene_variant,,ENST00000371504,;RP11-444E17.6,intron_variant,,ENST00000505802,;	92	102	139	SUCCESS
MDN1	23195	.	GRCh37	6	90390402	90390402	+	synonymous_variant	Silent	SNP	C	C	T	rs773169417	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	70	0	ENST00000369393.3:c.12171G>A	p.Leu4057=	p.L4057=	ENST00000369393		4057	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5024.1	12171	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCAAGCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	74/102	.	.	.	.	.	.	.	.	rs773169417	74/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,synonymous_variant,p.%3D,ENST00000369393,;MDN1,synonymous_variant,p.%3D,ENST00000428876,;RP1-122O8.7,downstream_gene_variant,,ENST00000438877,;	12287	70	50	SUCCESS
SPAM1	6677	.	GRCh37	7	123599859	123599859	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	23	77	0	ENST00000223028.7:c.1366G>A	p.Asp456Asn	p.D456N	ENST00000223028		456	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS5790.1	1366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTGATGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11769:SF20,hmmpanther:PTHR11769,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Prints_domain:PR00848	.	.	ENSP00000345849	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000340011	Transcript	.	.	ENSG00000106304	11217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	HYALP_HUMAN	SPAM1	HGNC	C9J2X5_HUMAN	.	UPI0000072166	SNV	SPAM1,missense_variant,p.Asp456Asn,ENST00000223028,;SPAM1,missense_variant,p.Asp456Asn,ENST00000460182,;SPAM1,missense_variant,p.Asp456Asn,ENST00000439500,;SPAM1,missense_variant,p.Asp456Asn,ENST00000340011,;SPAM1,missense_variant,p.Asp456Asn,ENST00000402183,;	1723	77	105	SUCCESS
FLNC	2318	.	GRCh37	7	128478085	128478085	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	20	66	0	ENST00000325888.8:c.1014C>A	p.Val338=	p.V338=	ENST00000325888	NM_001458.4	338	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS43644.1	1014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCTCCTA	NONE	.	.	Superfamily_domains:SSF81296,SMART_domains:SM00557,Pfam_domain:PF00630,Gene3D:2.60.40.10,hmmpanther:PTHR11915:SF173,hmmpanther:PTHR11915,PROSITE_profiles:PS50194	.	.	ENSP00000327145	.	6/48	.	.	.	.	.	.	.	.	.	6/48	PASS	ENST00000325888	Transcript	.	.	ENSG00000128591	3756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLNC_HUMAN	FLNC	HGNC	Q59H94_HUMAN,B3KM41_HUMAN	.	UPI000006DE6D	SNV	FLNC,synonymous_variant,p.%3D,ENST00000325888,;FLNC,synonymous_variant,p.%3D,ENST00000346177,;FLNC,upstream_gene_variant,,ENST00000388853,;	1275	66	76	SUCCESS
CCDC129	0	.	GRCh37	7	31692559	31692559	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	27	0	ENST00000451887.2:c.3067+262T>A		p.*1023*	ENST00000451887	NM_001257968.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59050.1	.	MUTECT|MUSE	.	ATATCTCTCAT	NONE	.	.	.	.	.	ENSP00000395835	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,3_prime_UTR_variant,,ENST00000319386,;CCDC129,intron_variant,,ENST00000451887,;CCDC129,intron_variant,,ENST00000409210,;CCDC129,downstream_gene_variant,,ENST00000407970,;CCDC129,intron_variant,,ENST00000463693,;	.	27	26	SUCCESS
ATAD2	29028	.	GRCh37	8	124358981	124358981	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	338	94	274	2	ENST00000287394.5:c.2222G>C	p.Cys741Ser	p.C741S	ENST00000287394	NM_014109.3	741	tGt/tCt	0	.	.	.	.	.	G	C/S	protein_coding	YES	CCDS6343.1	2222	RADIA|SOMATICSNIPER|VARSCANS	.	GAGGACAAGAA	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1	.	.	ENSP00000287394	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.75)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Cys741Ser,ENST00000287394,;ATAD2,missense_variant,p.Cys59Ser,ENST00000521903,;RNU6-875P,downstream_gene_variant,,ENST00000516488,;MIR548D1,upstream_gene_variant,,ENST00000384971,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;	2330	276	432	SUCCESS
COL22A1	169044	.	GRCh37	8	139890313	139890313	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs375895986	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	23	74	0	ENST00000303045.6:c.338G>T	p.Gly113Val	p.G113V	ENST00000303045	NM_152888.1	113	gGc/gTc	0	T:0	.	.	.	.	A	G/V	protein_coding	YES	CCDS6376.1	338	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCCCCCG	NONE	byCluster	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	T:0.0001	ENSP00000303153	.	3/65	.	.	.	.	.	.	.	.	rs375895986	3/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Gly113Val,ENST00000303045,;COL22A1,missense_variant,p.Gly113Val,ENST00000435777,;COL22A1,downstream_gene_variant,,ENST00000484387,;	785	74	102	SUCCESS
COL22A1	169044	.	GRCh37	8	139890314	139890314	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1377284965	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	74	0	ENST00000303045.6:c.337G>T	p.Gly113Cys	p.G113C	ENST00000303045	NM_152888.1	113	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS6376.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCCCCGT	NONE	.	.	PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000303153	.	3/65	.	.	.	.	.	.	.	.	.	3/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,missense_variant,p.Gly113Cys,ENST00000303045,;COL22A1,missense_variant,p.Gly113Cys,ENST00000435777,;COL22A1,downstream_gene_variant,,ENST00000484387,;	784	74	101	SUCCESS
GPAA1	8733	.	GRCh37	8	145140996	145140996	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1554764373	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	37	0	ENST00000355091.4:c.1834C>A	p.Leu612Met	p.L612M	ENST00000355091	NM_003801.3	612	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS43776.1	1834	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCTGCTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13304:SF0,hmmpanther:PTHR13304,Pfam_domain:PF04114,PIRSF_domain:PIRSF036762	.	.	ENSP00000347206	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000355091	Transcript	.	.	ENSG00000197858	4446	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.01)	.	GPAA1_HUMAN	GPAA1	HGNC	E9PLG8_HUMAN	.	UPI0000073ECC	SNV	GPAA1,missense_variant,p.Leu552Met,ENST00000361036,;GPAA1,missense_variant,p.Leu612Met,ENST00000355091,;GPAA1,downstream_gene_variant,,ENST00000524418,;GPAA1,downstream_gene_variant,,ENST00000525087,;GPAA1,downstream_gene_variant,,ENST00000530258,;GPAA1,downstream_gene_variant,,ENST00000527144,;GPAA1,downstream_gene_variant,,ENST00000526233,;GPAA1,downstream_gene_variant,,ENST00000526341,;GPAA1,non_coding_transcript_exon_variant,,ENST00000530796,;GPAA1,non_coding_transcript_exon_variant,,ENST00000534072,;GPAA1,non_coding_transcript_exon_variant,,ENST00000529638,;GPAA1,downstream_gene_variant,,ENST00000528073,;GPAA1,downstream_gene_variant,,ENST00000531593,;GPAA1,downstream_gene_variant,,ENST00000530633,;GPAA1,downstream_gene_variant,,ENST00000527653,;GPAA1,downstream_gene_variant,,ENST00000532758,;GPAA1,downstream_gene_variant,,ENST00000529503,;GPAA1,downstream_gene_variant,,ENST00000525308,;	1955	37	33	SUCCESS
PTDSS1	9791	.	GRCh37	8	97299350	97299350	+	synonymous_variant	Silent	SNP	C	C	T	rs73698560	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	14	86	0	ENST00000517309.1:c.417C>T	p.Tyr139=	p.Y139=	ENST00000517309	NM_014754.1	139	taC/taT	0	T:0.0084	T:0.0053	.	T:0.0043	.	T	Y	protein_coding	YES	CCDS6271.1	417	RADIA|MUSE|VARSCANS	.	CGATACGCCAC	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF03034,hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1	T:0	T:0.0005	ENSP00000430548	T:0.001	4/13	.	.	.	.	.	.	.	.	rs73698560	4/13	common_in_exac	ENST00000517309	Transcript	1	T:0.0022	ENSG00000156471	9587	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	PTSS1_HUMAN	PTDSS1	HGNC	Q9BUQ5_HUMAN	.	UPI0000132810	SNV	PTDSS1,synonymous_variant,p.%3D,ENST00000517309,;PTDSS1,intron_variant,,ENST00000455950,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000518776,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000517557,;PTDSS1,intron_variant,,ENST00000337004,;	743	86	126	SUCCESS
CPQ	10404	.	GRCh37	8	97978226	97978226	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373415893	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	75	0	ENST00000220763.5:c.913G>T	p.Gly305Cys	p.G305C	ENST00000220763	NM_016134.3	305	Ggt/Tgt	0	A:0.0002	.	.	.	.	T	G/C	protein_coding	YES	CCDS6273.1	913	MUTECT|MUSE	.	ATGGCGGTGGA	NONE	byCluster	.	Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR12053	.	A:0	ENSP00000220763	.	5/8	.	.	.	.	.	.	.	.	rs373415893	5/8	PASS	ENST00000220763	Transcript	.	.	ENSG00000104324	16910	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	CBPQ_HUMAN	CPQ	HGNC	E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN	.	UPI00000706B8	SNV	CPQ,missense_variant,p.Gly305Cys,ENST00000220763,;	1123	75	105	SUCCESS
NIPAL2	79815	.	GRCh37	8	99264768	99264768	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	27	139	0	ENST00000341166.3:c.299G>A	p.Gly100Glu	p.G100E	ENST00000341166	NM_024759.1	100	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS6278.1	299	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCCCACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF16,Pfam_domain:PF05653,Superfamily_domains:0043518	.	.	ENSP00000339256	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000341166	Transcript	.	.	ENSG00000104361	25854	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NPAL2_HUMAN	NIPAL2	HGNC	.	.	UPI000007089C	SNV	NIPAL2,missense_variant,p.Gly100Glu,ENST00000430223,;NIPAL2,missense_variant,p.Gly100Glu,ENST00000341166,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000520735,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000522188,;NIPAL2,upstream_gene_variant,,ENST00000520545,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000519324,;	555	139	170	SUCCESS
TNFSF15	9966	.	GRCh37	9	117552930	117552930	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs750502102	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	151	0	ENST00000374045.4:c.558C>G	p.Asp186Glu	p.D186E	ENST00000374045	NM_005118.3	186	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS6809.1	558	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGTCTGT	NONE	.	.	PROSITE_profiles:PS50049,hmmpanther:PTHR11471:SF24,hmmpanther:PTHR11471,Gene3D:2.60.120.40,Pfam_domain:PF00229,SMART_domains:SM00207,Superfamily_domains:SSF49842,Prints_domain:PR01234	.	.	ENSP00000363157	.	4/4	.	.	.	.	.	.	.	.	rs750502102	4/4	PASS	ENST00000374045	Transcript	.	.	ENSG00000181634	11931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.18)	.	TNF15_HUMAN	TNFSF15	HGNC	D9N2U0_HUMAN	.	UPI000006F8DF	SNV	TNFSF15,missense_variant,p.Asp109Glu,ENST00000374044,;TNFSF15,missense_variant,p.Asp186Glu,ENST00000374045,;AL390240.1,upstream_gene_variant,,ENST00000408807,;	672	151	114	SUCCESS
SPTAN1	6709	.	GRCh37	9	131353846	131353846	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	100	0	ENST00000372731.4:c.3097G>T	p.Glu1033Ter	p.E1033*	ENST00000372731	NM_003127.3	1033	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS48036.1	3097	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGAGAAT	NONE	.	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,SMART_domains:SM00150	.	.	ENSP00000361824	.	22/57	.	.	.	.	.	.	.	.	.	22/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,stop_gained,p.Glu1033Ter,ENST00000372739,;SPTAN1,stop_gained,p.Glu1033Ter,ENST00000358161,;SPTAN1,stop_gained,p.Glu1033Ter,ENST00000372731,;SPTAN1,upstream_gene_variant,,ENST00000475367,;	3207	100	76	SUCCESS
ALDH1B1	219	.	GRCh37	9	38396813	38396813	+	synonymous_variant	Silent	SNP	C	C	T	rs1391603644	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	24	175	0	ENST00000377698.3:c.1068C>T	p.Thr356=	p.T356=	ENST00000377698	NM_000692.4	356	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS6615.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACCCAGCA	NONE	.	.	Superfamily_domains:SSF53720,Pfam_domain:PF00171,Gene3D:3.40.309.10,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF123	.	.	ENSP00000366927	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377698	Transcript	.	.	ENSG00000137124	407	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL1B1_HUMAN	ALDH1B1	HGNC	B4DLJ0_HUMAN	.	UPI0000073000	SNV	ALDH1B1,synonymous_variant,p.%3D,ENST00000377698,;	1221	175	137	SUCCESS
BICD2	23299	.	GRCh37	9	95481735	95481735	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs189266003	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	66	0	ENST00000375512.3:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000375512	NM_015250.3	398	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS35064.1	1192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCAGGG	NONE	byFrequency|byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7,Pfam_domain:PF09730	A:0.0069	.	ENSP00000349351	A:0	5/7	.	.	.	.	.	.	.	.	rs189266003	5/7	common_in_exac	ENST00000356884	Transcript	.	A:0.0014	ENSG00000185963	17208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	A:0	deleterious(0)	.	BICD2_HUMAN	BICD2	HGNC	.	.	UPI00001BBAF1	SNV	BICD2,missense_variant,p.Arg398Trp,ENST00000375512,;BICD2,missense_variant,p.Arg398Trp,ENST00000356884,;	1260	66	72	SUCCESS
MAGEC3	139081	.	GRCh37	X	140969562	140969562	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	61	0	ENST00000298296.1:c.889G>T	p.Glu297Ter	p.E297*	ENST00000298296	NM_138702.1	297	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS14676.1	889	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGAAGTG	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47,Pfam_domain:PF01454	.	.	ENSP00000298296	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000298296	Transcript	.	.	ENSG00000165509	23798	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGC3_HUMAN	MAGEC3	HGNC	.	.	UPI000006E09B	SNV	MAGEC3,stop_gained,p.Glu297Ter,ENST00000298296,;MAGEC3,intron_variant,,ENST00000448920,;MAGEC3,intron_variant,,ENST00000443323,;MAGEC3,intron_variant,,ENST00000536088,;	889	61	53	SUCCESS
INA	9118	.	GRCh37	10	105037362	105037362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	14	0	ENST00000369849.4:c.394C>A	p.Arg132Ser	p.R132S	ENST00000369849	NM_032727.3	132	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS7545.1	394	MUTECT|MUSE	.	GACAGCGCCAC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132,Pfam_domain:PF00038,Superfamily_domains:SSF90257	.	.	ENSP00000358865	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369849	Transcript	.	.	ENSG00000148798	6057	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	AINX_HUMAN	INA	HGNC	B4DE66_HUMAN	.	UPI000012573C	SNV	INA,missense_variant,p.Arg132Ser,ENST00000369849,;	443	14	18	SUCCESS
CTNNA3	29119	.	GRCh37	10	69281647	69281647	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772545551	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	10	88	0	ENST00000433211.2:c.532G>A	p.Gly178Arg	p.G178R	ENST00000433211	NM_013266.2	178	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS7269.1	532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCCAAGCT	NONE	.	.	hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000389714	.	5/18	.	.	.	.	.	.	.	.	rs772545551	5/18	PASS	ENST00000433211	Transcript	1	.	ENSG00000183230	2511	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.5)	.	CTNA3_HUMAN	CTNNA3	HGNC	Q5SW23_HUMAN,A6NKP0_HUMAN	.	UPI000004A0E6	SNV	CTNNA3,missense_variant,p.Gly178Arg,ENST00000433211,;CTNNA3,missense_variant,p.Gly178Arg,ENST00000330298,;CTNNA3,missense_variant,p.Gly178Arg,ENST00000545309,;CTNNA3,missense_variant,p.Gly178Arg,ENST00000373744,;	707	88	61	SUCCESS
HECTD2	143279	.	GRCh37	10	93258688	93258688	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	293	11	372	0	ENST00000298068.5:c.1815A>T	p.Lys605Asn	p.K605N	ENST00000298068	NM_182765.3	605	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS7414.1	1815	MUTECT|MUSE	.	GATAAAATTTC	NONE	.	.	Superfamily_domains:SSF56204,SMART_domains:SM00119,Gene3D:1c4zA02,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF69,PROSITE_profiles:PS50237	.	.	ENSP00000298068	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000298068	Transcript	.	.	ENSG00000165338	26736	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	tolerated(0.57)	.	HECD2_HUMAN	HECTD2	HGNC	B3KV18_HUMAN	.	UPI0000246D14	SNV	HECTD2,missense_variant,p.Lys605Asn,ENST00000298068,;HECTD2,missense_variant,p.Lys194Asn,ENST00000536715,;HECTD2,missense_variant,p.Lys609Asn,ENST00000446394,;HECTD2,missense_variant,p.Lys255Asn,ENST00000371667,;	1909	372	304	SUCCESS
MUC2	4583	.	GRCh37	11	1104063	1104063	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	116	0	ENST00000441003.2:c.8254G>A	p.Ala2752Thr	p.A2752T	ENST00000441003	NM_002457.2	2752	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	8254	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCCCTG	NONE	.	.	PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,SMART_domains:SM00041	.	.	ENSP00000415183	.	49/49	.	.	.	.	.	.	.	.	COSM336986	49/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	1	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,missense_variant,p.Ala2752Thr,ENST00000441003,;	8281	116	93	SUCCESS
CCER1	196477	.	GRCh37	12	91348627	91348627	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	78	0	ENST00000358859.2:c.-108G>A		p.*36*	ENST00000358859	NM_152638.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9036.1	.	MUTECT|MUSE|VARSCANS	.	CTCCACGCAGC	NONE	.	.	.	.	.	ENSP00000351727	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358859	Transcript	.	.	ENSG00000197651	28373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCER1_HUMAN	CCER1	HGNC	.	.	UPI000006EE70	SNV	CCER1,5_prime_UTR_variant,,ENST00000358859,;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	327	78	61	SUCCESS
LUM	4060	.	GRCh37	12	91502234	91502234	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	7	102	0	ENST00000266718.4:c.523G>T	p.Ala175Ser	p.A175S	ENST00000266718	NM_002345.3	175	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS9038.1	523	MUTECT|MUSE	.	AACAGCATCCT	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24371:SF54,hmmpanther:PTHR24371,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000266718	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.02)	.	tolerated_low_confidence(0.62)	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,missense_variant,p.Ala175Ser,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;LUM,intron_variant,,ENST00000548071,;	978	102	94	SUCCESS
CCDC168	643677	.	GRCh37	13	103384823	103384823	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780108376	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	79	0	ENST00000322527.2:c.4337G>A	p.Arg1446His	p.R1446H	ENST00000322527	NM_001146197.1	1446	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	.	4337	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTACGTTTG	NONE	.	.	.	.	.	ENSP00000320232	.	1/1	.	.	.	.	.	.	.	.	rs780108376	1/1	PASS	ENST00000322527	Transcript	.	.	ENSG00000175820	26851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.2)	.	CC168_HUMAN	CCDC168	HGNC	.	.	UPI0000DD81F0	SNV	CCDC168,missense_variant,p.Arg1446His,ENST00000322527,;	4337	79	75	SUCCESS
DAOA-AS1	282706	.	GRCh37	13	106142224	106142224	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs765710019	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	11	108	0	ENST00000448407.1:n.406G>A		p.*136*	ENST00000448407				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41905.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCCAACT	NONE	byFrequency	.	.	.	.	ENSP00000365103	.	.	.	.	.	.	.	.	.	.	rs765710019	.	PASS	ENST00000375936	Transcript	.	.	ENSG00000182346	21191	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAOA_HUMAN	DAOA	HGNC	.	.	UPI00001B01AA	SNV	DAOA,intron_variant,,ENST00000329625,;DAOA,intron_variant,,ENST00000375936,;DAOA-AS1,non_coding_transcript_exon_variant,,ENST00000448407,;DAOA,missense_variant,p.Pro58Ser,ENST00000595812,;DAOA,3_prime_UTR_variant,,ENST00000601240,;DAOA,3_prime_UTR_variant,,ENST00000471432,;DAOA,intron_variant,,ENST00000600388,;DAOA,intron_variant,,ENST00000559369,;DAOA,intron_variant,,ENST00000473269,;DAOA,intron_variant,,ENST00000488534,;DAOA,intron_variant,,ENST00000489237,;	.	108	66	SUCCESS
CDC42BPB	9578	.	GRCh37	14	103406645	103406645	+	synonymous_variant	Silent	SNP	G	G	A	rs778075502	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	11	114	1	ENST00000361246.2:c.4425C>T	p.His1475=	p.H1475=	ENST00000361246	NM_006035.3	1475	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS9978.1	4425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACGTGGGT	NONE	byFrequency	.	PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30,Pfam_domain:PF00780,SMART_domains:SM00036	.	.	ENSP00000355237	.	31/37	.	.	.	.	.	.	.	.	rs778075502	31/37	PASS	ENST00000361246	Transcript	.	.	ENSG00000198752	1738	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRCKB_HUMAN	CDC42BPB	HGNC	.	.	UPI000013D27E	SNV	CDC42BPB,synonymous_variant,p.%3D,ENST00000361246,;CDC42BPB,downstream_gene_variant,,ENST00000559043,;CDC42BPB,downstream_gene_variant,,ENST00000558867,;RP11-365N19.2,downstream_gene_variant,,ENST00000560931,;CDC42BPB,non_coding_transcript_exon_variant,,ENST00000559790,;CDC42BPB,non_coding_transcript_exon_variant,,ENST00000560492,;CDC42BPB,downstream_gene_variant,,ENST00000559245,;	4714	115	75	SUCCESS
NPAP1	23742	.	GRCh37	15	24923717	24923717	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	55	0	ENST00000329468.2:c.2703T>C	p.Leu901=	p.L901=	ENST00000329468	NM_018958.2	901	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS10015.1	2703	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTTGGGGC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,synonymous_variant,p.%3D,ENST00000329468,;	3177	55	47	SUCCESS
EPB42	2038	.	GRCh37	15	43507436	43507436	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	5	91	0	ENST00000441366.2:c.287A>T	p.Glu96Val	p.E96V	ENST00000441366	NM_001114134.1	96	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS10093.1	377	MUTECT|MUSE	.	CTCTCTCCTCC	NONE	.	.	hmmpanther:PTHR11590:SF37,hmmpanther:PTHR11590,Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF81296	.	.	ENSP00000300215	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000300215	Transcript	1	.	ENSG00000166947	3381	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.887)	.	deleterious(0)	.	EPB42_HUMAN	EPB42	HGNC	Q4VB96_HUMAN	.	UPI000013E639	SNV	EPB42,missense_variant,p.Glu49Val,ENST00000568508,;EPB42,missense_variant,p.Glu126Val,ENST00000300215,;EPB42,missense_variant,p.Glu96Val,ENST00000441366,;EPB42,intron_variant,,ENST00000540029,;EPB42,upstream_gene_variant,,ENST00000569204,;	835	91	91	SUCCESS
MYO1E	4643	.	GRCh37	15	59517010	59517010	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs769235009	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	34	0	ENST00000288235.4:c.655G>A	p.Ala219Thr	p.A219T	ENST00000288235	NM_004998.3	219	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32254.1	655	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGCCCT	NONE	byFrequency	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000288235	.	8/28	.	.	.	.	.	.	.	.	rs769235009	8/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.841)	.	deleterious(0.04)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Ala49Thr,ENST00000559269,;MYO1E,missense_variant,p.Ala219Thr,ENST00000288235,;MYO1E,non_coding_transcript_exon_variant,,ENST00000558814,;MYO1E,downstream_gene_variant,,ENST00000558571,;	1055	34	38	SUCCESS
ERCC4	2072	.	GRCh37	16	14016042	14016042	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	83	0	ENST00000311895.7:c.362A>G	p.Asp121Gly	p.D121G	ENST00000311895	NM_005236.2	121	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS32390.1	362	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGATAGAA	NONE	.	.	hmmpanther:PTHR10150,TIGRFAM_domain:TIGR00596	.	.	ENSP00000310520	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000311895	Transcript	.	.	ENSG00000175595	3436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	deleterious(0.04)	.	XPF_HUMAN	ERCC4	HGNC	B4DXD8_HUMAN	.	UPI0000161BBF	SNV	ERCC4,missense_variant,p.Asp121Gly,ENST00000311895,;ERCC4,missense_variant,p.Asp121Gly,ENST00000575156,;ERCC4,non_coding_transcript_exon_variant,,ENST00000576348,;ERCC4,upstream_gene_variant,,ENST00000574194,;RPS26P52,downstream_gene_variant,,ENST00000463867,;	371	83	71	SUCCESS
TRAF7	84231	.	GRCh37	16	2221291	2221291	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	40	0	ENST00000326181.6:c.375C>G	p.Pro125=	p.P125=	ENST00000326181	NM_032271.2	125	ccC/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS10461.1	375	MUTECT|MUSE|VARSCANS	.	CAGCCCTCGGT	NONE	.	.	hmmpanther:PTHR22844:SF164,hmmpanther:PTHR22844,Gene3D:3.30.40.10	.	.	ENSP00000318944	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000326181	Transcript	.	.	ENSG00000131653	20456	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRAF7_HUMAN	TRAF7	HGNC	H3BR17_HUMAN,D3DU86_HUMAN	.	UPI000014186F	SNV	TRAF7,synonymous_variant,p.%3D,ENST00000326181,;TRAF7,synonymous_variant,p.%3D,ENST00000567645,;TRAF7,3_prime_UTR_variant,,ENST00000564067,;TRAF7,non_coding_transcript_exon_variant,,ENST00000569686,;TRAF7,upstream_gene_variant,,ENST00000570169,;TRAF7,downstream_gene_variant,,ENST00000567653,;TRAF7,downstream_gene_variant,,ENST00000565383,;	507	40	28	SUCCESS
GFOD2	81577	.	GRCh37	16	67709619	67709619	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	49	0	ENST00000268797.7:c.597G>C	p.Gly199=	p.G199=	ENST00000268797	NM_030819.3	199	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS10845.1	597	MUTECT|MUSE	.	AGCAGCCCGTG	NONE	.	.	hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF90,Gene3D:3.30.360.10,Superfamily_domains:SSF55347	.	.	ENSP00000268797	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000268797	Transcript	.	.	ENSG00000141098	28159	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GFOD2_HUMAN	GFOD2	HGNC	.	.	UPI000013D7DD	SNV	GFOD2,synonymous_variant,p.%3D,ENST00000268797,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602377,;GFOD2,downstream_gene_variant,,ENST00000602627,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602522,;	943	49	46	SUCCESS
ESRP2	80004	.	GRCh37	16	68267903	68267903	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	75	0	ENST00000565858.1:c.435C>T	p.Ser145=	p.S145=	ENST00000565858	NM_024939.2	145	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS10863.1	435	MUTECT|MUSE	.	TTCCTGGAGGC	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30,Gene3D:3.30.420.10,Superfamily_domains:SSF53098	.	.	ENSP00000418748	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000473183	Transcript	.	.	ENSG00000103067	26152	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ESRP2_HUMAN	ESRP2	HGNC	J3QQJ9_HUMAN,J3KRF2_HUMAN	.	UPI000006FB08	SNV	ESRP2,synonymous_variant,p.%3D,ENST00000562724,;ESRP2,synonymous_variant,p.%3D,ENST00000473183,;ESRP2,synonymous_variant,p.%3D,ENST00000564382,;ESRP2,synonymous_variant,p.%3D,ENST00000565858,;NFATC3,downstream_gene_variant,,ENST00000346183,;NFATC3,downstream_gene_variant,,ENST00000329524,;NFATC3,downstream_gene_variant,,ENST00000349223,;RP11-96D1.11,upstream_gene_variant,,ENST00000571197,;RP11-96D1.6,downstream_gene_variant,,ENST00000564147,;ESRP2,non_coding_transcript_exon_variant,,ENST00000562567,;ESRP2,non_coding_transcript_exon_variant,,ENST00000564465,;ESRP2,non_coding_transcript_exon_variant,,ENST00000563159,;ESRP2,non_coding_transcript_exon_variant,,ENST00000569964,;ESRP2,non_coding_transcript_exon_variant,,ENST00000562738,;ESRP2,non_coding_transcript_exon_variant,,ENST00000251366,;ESRP2,upstream_gene_variant,,ENST00000566774,;ESRP2,upstream_gene_variant,,ENST00000565213,;	974	75	72	SUCCESS
PIP4K2B	8396	.	GRCh37	17	36935649	36935649	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	12	93	0	ENST00000269554.3:c.641A>C	p.Lys214Thr	p.K214T	ENST00000269554	NM_003559.4	214	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS11329.1	641	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATACTTGCGA	NONE	.	.	PROSITE_profiles:PS51455,hmmpanther:PTHR23086:SF22,hmmpanther:PTHR23086,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104	.	.	ENSP00000269554	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000269554	Transcript	.	.	ENSG00000141720	8998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	deleterious(0.02)	.	PI42B_HUMAN	PIP4K2B	HGNC	J3QQP6_HUMAN	.	UPI0000032D92	SNV	PIP4K2B,missense_variant,p.Lys214Thr,ENST00000269554,;PIP4K2B,downstream_gene_variant,,ENST00000581097,;PIP4K2B,non_coding_transcript_exon_variant,,ENST00000583278,;PIP4K2B,non_coding_transcript_exon_variant,,ENST00000311500,;	1122	93	67	SUCCESS
KAT2A	2648	.	GRCh37	17	40269500	40269500	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1203283266	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	7	158	0	ENST00000225916.5:c.1543C>T	p.Arg515Trp	p.R515W	ENST00000225916	NM_021078.2	515	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS11417.1	1543	MUTECT|MUSE	.	CACCCGCCGGT	NONE	.	.	PROSITE_profiles:PS51186,hmmpanther:PTHR22880:SF124,hmmpanther:PTHR22880,Gene3D:3.40.630.30,PIRSF_domain:PIRSF003048,Superfamily_domains:SSF55729	.	.	ENSP00000225916	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000225916	Transcript	.	.	ENSG00000108773	4201	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.667)	.	deleterious(0)	.	KAT2A_HUMAN	KAT2A	HGNC	K7ERS6_HUMAN	.	UPI000000D978	SNV	KAT2A,missense_variant,p.Arg515Trp,ENST00000225916,;DHX58,upstream_gene_variant,,ENST00000413196,;DHX58,upstream_gene_variant,,ENST00000591220,;CTD-2132N18.3,downstream_gene_variant,,ENST00000592574,;DHX58,upstream_gene_variant,,ENST00000251642,;KAT2A,3_prime_UTR_variant,,ENST00000465682,;KAT2A,non_coding_transcript_exon_variant,,ENST00000592310,;CTD-2132N18.3,downstream_gene_variant,,ENST00000592248,;CTD-2132N18.3,downstream_gene_variant,,ENST00000585562,;DHX58,upstream_gene_variant,,ENST00000586522,;KAT2A,upstream_gene_variant,,ENST00000588759,;KAT2A,upstream_gene_variant,,ENST00000586972,;	1597	158	121	SUCCESS
EIF4A1	1973	.	GRCh37	17	7477593	7477593	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	98	0	ENST00000293831.8:c.39C>G	p.Gly13=	p.G13=	ENST00000293831	NM_001416.3	13	ggC/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS11113.1	39	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGCCCCGA	NONE	.	.	hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF221	.	.	ENSP00000293831	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000293831	Transcript	.	.	ENSG00000161960	3282	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4A1_HUMAN	EIF4A1	HGNC	J3QLN6_HUMAN,J3QKZ9_HUMAN,J3KTN0_HUMAN,J3KTB5_HUMAN,J3KS93_HUMAN,B4DNH2_HUMAN	.	UPI000000411B	SNV	EIF4A1,synonymous_variant,p.%3D,ENST00000584784,;EIF4A1,synonymous_variant,p.%3D,ENST00000581384,;EIF4A1,synonymous_variant,p.%3D,ENST00000585024,;EIF4A1,synonymous_variant,p.%3D,ENST00000578495,;EIF4A1,synonymous_variant,p.%3D,ENST00000582746,;EIF4A1,synonymous_variant,p.%3D,ENST00000293831,;EIF4A1,synonymous_variant,p.%3D,ENST00000581770,;EIF4A1,synonymous_variant,p.%3D,ENST00000577269,;EIF4A1,5_prime_UTR_variant,,ENST00000577929,;EIF4A1,5_prime_UTR_variant,,ENST00000380512,;EIF4A1,5_prime_UTR_variant,,ENST00000584860,;EIF4A1,5_prime_UTR_variant,,ENST00000582169,;EIF4A1,intron_variant,,ENST00000583802,;EIF4A1,intron_variant,,ENST00000578754,;SENP3,downstream_gene_variant,,ENST00000321337,;SENP3,downstream_gene_variant,,ENST00000582789,;SENP3,downstream_gene_variant,,ENST00000581093,;SENP3,downstream_gene_variant,,ENST00000580231,;SENP3,downstream_gene_variant,,ENST00000429205,;EIF4A1,upstream_gene_variant,,ENST00000583389,;SNORD10,upstream_gene_variant,,ENST00000459579,;SNORA48,upstream_gene_variant,,ENST00000386847,;SNORA67,upstream_gene_variant,,ENST00000384423,;SENP3-EIF4A1,non_coding_transcript_exon_variant,,ENST00000579777,;SNORA67,non_coding_transcript_exon_variant,,ENST00000581621,;EIF4A1,upstream_gene_variant,,ENST00000581808,;SENP3,downstream_gene_variant,,ENST00000578813,;SENP3,downstream_gene_variant,,ENST00000578868,;SENP3,downstream_gene_variant,,ENST00000580042,;EIF4A1,missense_variant,p.Pro39Ala,ENST00000580888,;EIF4A1,missense_variant,p.Pro63Ala,ENST00000578476,;EIF4A1,missense_variant,p.Pro63Ala,ENST00000580461,;EIF4A1,missense_variant,p.Pro63Ala,ENST00000579139,;EIF4A1,synonymous_variant,p.%3D,ENST00000581544,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000577738,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000582848,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000580886,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000584054,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000578324,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000584712,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000584901,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000583899,;EIF4A1,intron_variant,,ENST00000582213,;EIF4A1,intron_variant,,ENST00000396527,;EIF4A1,intron_variant,,ENST00000579085,;EIF4A1,upstream_gene_variant,,ENST00000584798,;EIF4A1,upstream_gene_variant,,ENST00000583217,;EIF4A1,upstream_gene_variant,,ENST00000577731,;EIF4A1,upstream_gene_variant,,ENST00000581841,;SENP3,downstream_gene_variant,,ENST00000581010,;EIF4A1,upstream_gene_variant,,ENST00000578569,;EIF4A1,upstream_gene_variant,,ENST00000582050,;	55	98	67	SUCCESS
EMR2	0	.	GRCh37	19	14863326	14863326	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370924160	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	80	0	ENST00000315576.3:c.1603G>A	p.Val535Met	p.V535M	ENST00000315576	NM_013447.3	535	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS32935.1	1603	MUTECT|MUSE	.	CAGCACGGGAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12011:SF179,hmmpanther:PTHR12011,Pfam_domain:PF00002	.	T:0.0001	ENSP00000319883	.	15/21	.	.	.	.	.	.	.	.	rs370924160	15/21	PASS	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.393)	.	tolerated(0.17)	.	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,missense_variant,p.Arg199His,ENST00000392964,;EMR2,missense_variant,p.Val442Met,ENST00000594076,;EMR2,missense_variant,p.Val486Met,ENST00000594294,;EMR2,missense_variant,p.Val524Met,ENST00000601345,;EMR2,missense_variant,p.Val486Met,ENST00000346057,;EMR2,missense_variant,p.Val393Met,ENST00000595839,;EMR2,missense_variant,p.Val393Met,ENST00000353005,;EMR2,missense_variant,p.Val442Met,ENST00000353876,;EMR2,missense_variant,p.Val535Met,ENST00000315576,;EMR2,missense_variant,p.Val477Met,ENST00000392965,;EMR2,missense_variant,p.Val524Met,ENST00000392967,;EMR2,missense_variant,p.Val524Met,ENST00000596991,;EMR2,missense_variant,p.Arg353His,ENST00000392962,;EMR2,missense_variant,p.Arg304His,ENST00000595208,;EMR2,intron_variant,,ENST00000360222,;	2055	80	86	SUCCESS
UPF1	5976	.	GRCh37	19	18965500	18965500	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	8	79	0	ENST00000262803.5:c.1247A>G	p.Lys416Arg	p.K416R	ENST00000262803	NM_002911.3	416	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS12386.1	1247	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAAGTCGA	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF340	.	.	ENSP00000262803	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000262803	Transcript	.	.	ENSG00000005007	9962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.145)	.	tolerated(0.05)	.	RENT1_HUMAN	UPF1	HGNC	B3KY55_HUMAN	.	UPI0000001C89	SNV	UPF1,missense_variant,p.Lys427Arg,ENST00000599848,;UPF1,missense_variant,p.Lys416Arg,ENST00000262803,;UPF1,downstream_gene_variant,,ENST00000598209,;UPF1,downstream_gene_variant,,ENST00000601981,;UPF1,downstream_gene_variant,,ENST00000600310,;UPF1,downstream_gene_variant,,ENST00000600868,;UPF1,downstream_gene_variant,,ENST00000594504,;UPF1,downstream_gene_variant,,ENST00000600012,;UPF1,downstream_gene_variant,,ENST00000598471,;UPF1,non_coding_transcript_exon_variant,,ENST00000601689,;UPF1,upstream_gene_variant,,ENST00000594243,;UPF1,upstream_gene_variant,,ENST00000596842,;	1519	79	83	SUCCESS
PRKD2	25865	.	GRCh37	19	47197252	47197252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	24	0	ENST00000291281.4:c.1456C>T	p.Pro486Ser	p.P486S	ENST00000291281		486	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS12689.1	1456	MUTECT|MUSE	.	ACCCGGAGTCC	NONE	.	.	Superfamily_domains:SSF50729,PIRSF_domain:PIRSF000552,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR22968,PROSITE_profiles:PS50003,Low_complexity_(Seg):seg	.	.	ENSP00000393978	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.095)	.	tolerated(0.61)	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,missense_variant,p.Pro486Ser,ENST00000595515,;PRKD2,missense_variant,p.Pro329Ser,ENST00000600194,;PRKD2,missense_variant,p.Pro329Ser,ENST00000601806,;PRKD2,missense_variant,p.Pro486Ser,ENST00000433867,;PRKD2,missense_variant,p.Pro486Ser,ENST00000291281,;PRKD2,downstream_gene_variant,,ENST00000601605,;RN7SL364P,upstream_gene_variant,,ENST00000473668,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;PRKD2,upstream_gene_variant,,ENST00000597390,;PRKD2,upstream_gene_variant,,ENST00000599464,;PRKD2,upstream_gene_variant,,ENST00000602155,;	1934	24	25	SUCCESS
KDM4B	23030	.	GRCh37	19	5047661	5047661	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	5	60	0	ENST00000159111.4:c.607T>G	p.Phe203Val	p.F203V	ENST00000159111	NM_015015.2	203	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS12138.1	607	MUTECT|MUSE|VARSCANS	.	TGCACTTTGGG	NONE	.	.	PROSITE_profiles:PS51184,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	.	ENSP00000159111	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000159111	Transcript	.	.	ENSG00000127663	29136	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.577)	.	.	.	KDM4B_HUMAN	KDM4B	HGNC	K7ES23_HUMAN	.	UPI00001C202B	SNV	KDM4B,missense_variant,p.Phe203Val,ENST00000536461,;KDM4B,missense_variant,p.Phe203Val,ENST00000159111,;KDM4B,missense_variant,p.Phe203Val,ENST00000381759,;KDM4B,non_coding_transcript_exon_variant,,ENST00000592175,;	825	60	64	SUCCESS
ZNF611	81856	.	GRCh37	19	53209500	53209500	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	16	123	0	ENST00000319783.1:c.808C>T	p.His270Tyr	p.H270Y	ENST00000319783	NM_030972.3	270	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS12855.1	808	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGTGATTAA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF233,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000437616	.	6/6	.	.	.	.	.	.	.	.	COSM475177	6/6	PASS	ENST00000543227	Transcript	.	.	ENSG00000213020	28766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.004)	.	tolerated(0.07)	1	ZN611_HUMAN	ZNF611	HGNC	M0QYR0_HUMAN	.	UPI00001406C1	SNV	ZNF611,missense_variant,p.His201Tyr,ENST00000453741,;ZNF611,missense_variant,p.His270Tyr,ENST00000543227,;ZNF611,missense_variant,p.His270Tyr,ENST00000319783,;ZNF611,missense_variant,p.His201Tyr,ENST00000595798,;ZNF611,missense_variant,p.His201Tyr,ENST00000602162,;ZNF611,missense_variant,p.His270Tyr,ENST00000540744,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	1083	123	121	SUCCESS
LONP1	9361	.	GRCh37	19	5719823	5719823	+	synonymous_variant	Silent	SNP	C	C	T	rs760045514	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	111	0	ENST00000360614.3:c.321G>A	p.Pro107=	p.P107=	ENST00000360614	NM_004793.3	107	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS12148.1	321	RADIA|MUTECT|MUSE|VARSCANS	.	ATGACCGGGCC	NONE	byFrequency	.	HAMAP:MF_03120,hmmpanther:PTHR10046:SF23,hmmpanther:PTHR10046,PIRSF_domain:PIRSF001174	.	.	ENSP00000353826	.	1/18	.	.	.	.	.	.	.	.	rs760045514	1/18	PASS	ENST00000360614	Transcript	1	.	ENSG00000196365	9479	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LONM_HUMAN	LONP1	HGNC	K7EKE6_HUMAN,F5GZ27_HUMAN	.	UPI000012E7EF	SNV	LONP1,synonymous_variant,p.%3D,ENST00000360614,;LONP1,synonymous_variant,p.%3D,ENST00000593119,;LONP1,synonymous_variant,p.%3D,ENST00000587365,;LONP1,5_prime_UTR_variant,,ENST00000590729,;LONP1,5_prime_UTR_variant,,ENST00000585374,;LONP1,intron_variant,,ENST00000540670,;CATSPERD,upstream_gene_variant,,ENST00000381614,;CATSPERD,upstream_gene_variant,,ENST00000381624,;LONP1,non_coding_transcript_exon_variant,,ENST00000590511,;LONP1,non_coding_transcript_exon_variant,,ENST00000590728,;LONP1,synonymous_variant,p.%3D,ENST00000590558,;LONP1,intron_variant,,ENST00000586617,;LONP1,upstream_gene_variant,,ENST00000587552,;	479	111	84	SUCCESS
SYPL2	284612	.	GRCh37	1	110020616	110020616	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	87	1	ENST00000369872.3:c.633G>T	p.Leu211=	p.L211=	ENST00000369872	NM_001040709.1	211	ctG/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41365.1	633	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTGGCCAA	NONE	.	.	PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF8,Pfam_domain:PF01284	.	.	ENSP00000358888	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000369872	Transcript	.	.	ENSG00000143028	27638	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYPL2_HUMAN	SYPL2	HGNC	B4DWF6_HUMAN	.	UPI0000047AE5	SNV	SYPL2,synonymous_variant,p.%3D,ENST00000369872,;SYPL2,intron_variant,,ENST00000401021,;SYPL2,downstream_gene_variant,,ENST00000475497,;	849	88	52	SUCCESS
WNT2B	7482	.	GRCh37	1	113010143	113010143	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs577495866	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	8	215	0	ENST00000256640.5:c.-165A>G		p.*55*	ENST00000256640				0	.	G:0	.	G:0	.	G	.	protein_coding	.	CCDS846.1	.	MUTECT|MUSE	.	CTCCTATATCA	NONE	by1000G	.	.	G:0	.	ENSP00000358700	G:0	1/6	.	.	.	.	.	.	.	.	rs577495866	1/6	PASS	ENST00000369686	Transcript	.	G:0.0002	ENSG00000134245	12781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0.001	.	.	WNT2B_HUMAN	WNT2B	HGNC	Q5TEH8_HUMAN	.	UPI000002B6E0	SNV	WNT2B,5_prime_UTR_variant,,ENST00000369686,;WNT2B,5_prime_UTR_variant,,ENST00000256640,;CTTNBP2NL,downstream_gene_variant,,ENST00000607039,;	88	215	210	SUCCESS
TATDN3	128387	.	GRCh37	1	212981088	212981088	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	64	0	ENST00000366974.4:c.498G>T	p.Lys166Asn	p.K166N	ENST00000366974	NM_001042553.2	166	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS53475.1	498	RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAGGTACT	NONE	.	.	hmmpanther:PTHR10060,Pfam_domain:PF01026,Gene3D:3.20.20.140,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556	.	.	ENSP00000431376	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000532324	Transcript	.	.	ENSG00000203705	27010	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.16)	.	TATD3_HUMAN	TATDN3	HGNC	.	.	UPI0000205E43	SNV	TATDN3,missense_variant,p.Lys145Asn,ENST00000526641,;TATDN3,missense_variant,p.Lys166Asn,ENST00000366973,;TATDN3,missense_variant,p.Lys166Asn,ENST00000366974,;TATDN3,missense_variant,p.Lys166Asn,ENST00000532324,;TATDN3,missense_variant,p.Lys166Asn,ENST00000531963,;TATDN3,intron_variant,,ENST00000526997,;TATDN3,intron_variant,,ENST00000527693,;TATDN3,downstream_gene_variant,,ENST00000530399,;TATDN3,downstream_gene_variant,,ENST00000530441,;TATDN3,downstream_gene_variant,,ENST00000488246,;TATDN3,non_coding_transcript_exon_variant,,ENST00000525569,;TATDN3,downstream_gene_variant,,ENST00000497768,;TATDN3,downstream_gene_variant,,ENST00000530392,;TATDN3,missense_variant,p.Arg90Met,ENST00000533650,;TATDN3,3_prime_UTR_variant,,ENST00000525574,;	592	64	53	SUCCESS
SYN3	8224	.	GRCh37	22	32909762	32909762	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs865899525	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	44	0	ENST00000358763.2:c.1660C>T	p.Arg554Cys	p.R554C	ENST00000358763	NM_001135774.1	554	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13908.1	1660	MUTECT|MUSE|VARSCANS	.	CCCACGCTGGG	NONE	.	.	hmmpanther:PTHR10841	.	.	ENSP00000351614	.	14/14	.	.	.	.	.	.	.	.	COSM273318	14/14	PASS	ENST00000358763	Transcript	.	.	ENSG00000185666	11496	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.994)	.	deleterious(0)	1	SYN3_HUMAN	SYN3	HGNC	Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN	.	UPI00001365D3	SNV	SYN3,missense_variant,p.Arg554Cys,ENST00000358763,;SYN3,missense_variant,p.Arg554Cys,ENST00000332840,;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,downstream_gene_variant,,ENST00000459990,;SYN3,downstream_gene_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,downstream_gene_variant,,ENST00000461446,;	1903	44	48	SUCCESS
ANAPC1	64682	.	GRCh37	2	112615903	112615903	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	245	14	264	1	ENST00000341068.3:c.1338A>T	p.Val446=	p.V446=	ENST00000341068	NM_022662.3	446	gtA/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS2093.1	1338	MUTECT|MUSE	.	GACTCTACTAA	NONE	.	.	hmmpanther:PTHR12827	.	.	ENSP00000339109	.	11/48	.	.	.	.	.	.	.	.	.	11/48	PASS	ENST00000341068	Transcript	.	.	ENSG00000153107	19988	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APC1_HUMAN	ANAPC1	HGNC	.	.	UPI000006EC6E	SNV	ANAPC1,synonymous_variant,p.%3D,ENST00000341068,;ANAPC1,upstream_gene_variant,,ENST00000427997,;ANAPC1,upstream_gene_variant,,ENST00000482177,;	2111	265	259	SUCCESS
ICA1L	130026	.	GRCh37	2	203693673	203693673	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	7	116	0	ENST00000358299.2:c.60A>G	p.Gln20=	p.Q20=	ENST00000358299		20	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS2354.1	60	MUTECT|MUSE	.	TTCTTTTGCAT	NONE	.	.	hmmpanther:PTHR10164,hmmpanther:PTHR10164:SF2,Pfam_domain:PF06456,SMART_domains:SM01015	.	.	ENSP00000376070	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000392237	Transcript	.	.	ENSG00000163596	14442	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ICA1L_HUMAN	ICA1L	HGNC	C9JRB6_HUMAN,C9JP49_HUMAN,C9JEP0_HUMAN,C9JEN4_HUMAN,C9JDM8_HUMAN,C9JDK6_HUMAN,C9JAQ4_HUMAN,C9J9Z8_HUMAN,C9J5Z0_HUMAN,C9J1M7_HUMAN	.	UPI000007263F	SNV	ICA1L,synonymous_variant,p.%3D,ENST00000421334,;ICA1L,synonymous_variant,p.%3D,ENST00000441547,;ICA1L,synonymous_variant,p.%3D,ENST00000435143,;ICA1L,synonymous_variant,p.%3D,ENST00000454326,;ICA1L,synonymous_variant,p.%3D,ENST00000416760,;ICA1L,synonymous_variant,p.%3D,ENST00000420558,;ICA1L,synonymous_variant,p.%3D,ENST00000425178,;ICA1L,synonymous_variant,p.%3D,ENST00000392237,;ICA1L,synonymous_variant,p.%3D,ENST00000450143,;ICA1L,synonymous_variant,p.%3D,ENST00000457524,;ICA1L,synonymous_variant,p.%3D,ENST00000358299,;ICA1L,synonymous_variant,p.%3D,ENST00000411681,;ICA1L,synonymous_variant,p.%3D,ENST00000432273,;ICA1L,synonymous_variant,p.%3D,ENST00000412210,;ICA1L,synonymous_variant,p.%3D,ENST00000419460,;ICA1L,synonymous_variant,p.%3D,ENST00000418208,;ICA1L,synonymous_variant,p.%3D,ENST00000437978,;ICA1L,synonymous_variant,p.%3D,ENST00000438804,;ICA1L,non_coding_transcript_exon_variant,,ENST00000484561,;	218	116	112	SUCCESS
AC073254.1	0	.	GRCh37	2	233470783	233470784	+	intron_variant,non_coding_transcript_variant	Intron	INS	-	-	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	37	0	ENST00000595732.1:n.181+4658_181+4659insC		p.*61*	ENST00000595732				0	.	.	.	.	.	G	.	antisense	YES	.	.	VARSCANI*|PINDEL	.	GCGGATACCCC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000595732	Transcript	.	.	ENSG00000237126	.	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC073254.1	Clone_based_vega_gene	.	.	.	insertion	EFHD1,5_prime_UTR_variant,,ENST00000409613,;AC073254.1,intron_variant,,ENST00000596622,;AC073254.1,intron_variant,,ENST00000597495,;AC073254.1,intron_variant,,ENST00000597193,;AC073254.1,intron_variant,,ENST00000600865,;AC073254.1,intron_variant,,ENST00000598700,;AC073254.1,intron_variant,,ENST00000595732,;AC073254.1,intron_variant,,ENST00000415506,;	.	37	38	SUCCESS
AC104809.3	0	.	GRCh37	2	241903075	241903075	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	20	113	1	ENST00000430980.2:c.2872G>T	p.Glu958Ter	p.E958*	ENST00000430980		958	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	.	2872	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGGAGGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF12,hmmpanther:PTHR23159	.	.	ENSP00000387851	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000430980	Transcript	.	.	ENSG00000226321	.	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC104809.3	Clone_based_vega_gene	.	.	UPI0002065B86	SNV	AC104809.3,stop_gained,p.Glu958Ter,ENST00000430980,;AC104809.3,stop_gained,p.Glu57Ter,ENST00000442811,;AC104809.3,upstream_gene_variant,,ENST00000443866,;AC104809.4,non_coding_transcript_exon_variant,,ENST00000418218,;AC104809.4,upstream_gene_variant,,ENST00000457369,;AC104809.4,upstream_gene_variant,,ENST00000438506,;	2872	115	111	SUCCESS
AC104809.3	0	.	GRCh37	2	241903076	241903076	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	20	115	0	ENST00000430980.2:c.2873A>T	p.Glu958Val	p.E958V	ENST00000430980		958	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	.	2873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGAGGCCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF12,hmmpanther:PTHR23159	.	.	ENSP00000387851	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000430980	Transcript	.	.	ENSG00000226321	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	.	AC104809.3	Clone_based_vega_gene	.	.	UPI0002065B86	SNV	AC104809.3,missense_variant,p.Glu958Val,ENST00000430980,;AC104809.3,missense_variant,p.Glu57Val,ENST00000442811,;AC104809.3,upstream_gene_variant,,ENST00000443866,;AC104809.4,non_coding_transcript_exon_variant,,ENST00000418218,;AC104809.4,upstream_gene_variant,,ENST00000457369,;AC104809.4,upstream_gene_variant,,ENST00000438506,;	2873	115	111	SUCCESS
PSME4	23198	.	GRCh37	2	54135494	54135494	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	13	105	0	ENST00000404125.1:c.2747A>C	p.Lys916Thr	p.K916T	ENST00000404125	NM_014614.2	916	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS33197.2	2747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTTTTCCAT	NONE	.	.	hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF0	.	.	ENSP00000384211	.	24/47	.	.	.	.	.	.	.	.	.	24/47	PASS	ENST00000404125	Transcript	.	.	ENSG00000068878	20635	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious(0)	.	PSME4_HUMAN	PSME4	HGNC	.	.	UPI0000F3BE4A	SNV	PSME4,missense_variant,p.Lys60Thr,ENST00000421748,;PSME4,missense_variant,p.Lys916Thr,ENST00000404125,;PSME4,3_prime_UTR_variant,,ENST00000389993,;PSME4,non_coding_transcript_exon_variant,,ENST00000461810,;	2803	105	85	SUCCESS
CHRD	8646	.	GRCh37	3	184103890	184103890	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	8	232	0	ENST00000204604.1:c.1875C>T	p.Gly625=	p.G625=	ENST00000204604	NM_003741.2	625	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3266.1	1875	MUTECT|MUSE	.	AAAGGCATGGC	NONE	.	.	PROSITE_profiles:PS50933,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,Pfam_domain:PF07452,PIRSF_domain:PIRSF002496,SMART_domains:SM00754	.	.	ENSP00000204604	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000204604	Transcript	.	.	ENSG00000090539	1949	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHRD_HUMAN	CHRD	HGNC	Q8N2W7_HUMAN	.	UPI000013C64D	SNV	CHRD,synonymous_variant,p.%3D,ENST00000450923,;CHRD,synonymous_variant,p.%3D,ENST00000204604,;CHRD,synonymous_variant,p.%3D,ENST00000348986,;CHRD,synonymous_variant,p.%3D,ENST00000545352,;EIF2B5,intron_variant,,ENST00000444495,;CHRD,downstream_gene_variant,,ENST00000310236,;CHRD,downstream_gene_variant,,ENST00000482805,;CHRD,3_prime_UTR_variant,,ENST00000420973,;CHRD,3_prime_UTR_variant,,ENST00000448472,;CHRD,non_coding_transcript_exon_variant,,ENST00000470150,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,non_coding_transcript_exon_variant,,ENST00000464833,;CHRD,downstream_gene_variant,,ENST00000461120,;CHRD,downstream_gene_variant,,ENST00000459711,;CHRD,downstream_gene_variant,,ENST00000356534,;CHRD,downstream_gene_variant,,ENST00000482014,;CHRD,downstream_gene_variant,,ENST00000496527,;CHRD,downstream_gene_variant,,ENST00000485883,;CHRD,downstream_gene_variant,,ENST00000486066,;CHRD,downstream_gene_variant,,ENST00000461684,;	2121	232	198	SUCCESS
CACNA1D	776	.	GRCh37	3	53835443	53835443	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	50	0	ENST00000350061.5:c.5399G>T	p.Ser1800Ile	p.S1800I	ENST00000350061	NM_001128840.2	1800	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS2872.1	5459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCAGTGTGA	NONE	.	.	hmmpanther:PTHR10037:SF139,hmmpanther:PTHR10037	.	.	ENSP00000288139	.	43/49	.	.	.	.	.	.	.	.	COSM4119342,COSM4119343	43/49	PASS	ENST00000288139	Transcript	.	.	ENSG00000157388	1391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.062)	.	tolerated_low_confidence(0.09)	1,1	CAC1D_HUMAN	CACNA1D	HGNC	.	.	UPI000005031A	SNV	CACNA1D,missense_variant,p.Ser1820Ile,ENST00000288139,;CACNA1D,missense_variant,p.Ser1785Ile,ENST00000422281,;CACNA1D,missense_variant,p.Ser1800Ile,ENST00000350061,;CACNA1D,missense_variant,p.Ser179Ile,ENST00000544977,;CACNA1D,missense_variant,p.Ser1493Ile,ENST00000481478,;RP11-884K10.6,upstream_gene_variant,,ENST00000607740,;	5577	50	52	SUCCESS
RXFP1	59350	.	GRCh37	4	159566234	159566234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	14	122	0	ENST00000307765.5:c.1289G>T	p.Arg430Leu	p.R430L	ENST00000307765	NM_001253728.1	430	cGa/cTa	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS43276.1	1289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGACCTT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000303248	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000307765	Transcript	.	.	ENSG00000171509	19718	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RXFP1_HUMAN	RXFP1	HGNC	Q4W5D9_HUMAN,E9PCA3_HUMAN	.	UPI000013EC4B	SNV	RXFP1,missense_variant,p.Arg325Leu,ENST00000448688,;RXFP1,missense_variant,p.Arg397Leu,ENST00000470033,;RXFP1,missense_variant,p.Arg430Leu,ENST00000307765,;RXFP1,missense_variant,p.Arg349Leu,ENST00000460056,;RXFP1,missense_variant,p.Arg382Leu,ENST00000343542,;RXFP1,3_prime_UTR_variant,,ENST00000471616,;RXFP1,3_prime_UTR_variant,,ENST00000342048,;	1540	122	85	SUCCESS
SCRG1	11341	.	GRCh37	4	174312527	174312527	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	104	0	ENST00000296506.3:c.39T>A	p.Thr13=	p.T13=	ENST00000296506	NM_007281.2	13	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS3818.1	39	MUTECT|MUSE|VARSCANS	.	AGCAAAGTTAG	NONE	.	.	Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR17463	.	.	ENSP00000296506	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000296506	Transcript	.	.	ENSG00000164106	17036	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCRG1_HUMAN	SCRG1	HGNC	Q6FGG5_HUMAN	.	UPI0000031569	SNV	SCRG1,synonymous_variant,p.%3D,ENST00000296506,;SCRG1,synonymous_variant,p.%3D,ENST00000512188,;	522	104	89	SUCCESS
GABRG2	2566	.	GRCh37	5	161580308	161580308	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	6	111	0	ENST00000361925.4:c.1338G>T	p.Arg446=	p.R446=	ENST00000361925		446	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47333.1	1482	MUTECT|MUSE	.	GCTCGGATCTT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00253,Superfamily_domains:SSF90112,Gene3D:1.20.58.390,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,synonymous_variant,p.%3D,ENST00000393933,;GABRG2,synonymous_variant,p.%3D,ENST00000361925,;GABRG2,synonymous_variant,p.%3D,ENST00000356592,;GABRG2,synonymous_variant,p.%3D,ENST00000414552,;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	1707	111	117	SUCCESS
MYO10	4651	.	GRCh37	5	16794770	16794770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	13	71	0	ENST00000513610.1:c.452A>G	p.Gln151Arg	p.Q151R	ENST00000513610	NM_012334.2	151	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS54834.1	452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACTGGTTG	NONE	.	.	Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000421280	.	4/41	.	.	.	.	.	.	.	.	.	4/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	SNV	MYO10,missense_variant,p.Gln162Arg,ENST00000513882,;MYO10,missense_variant,p.Gln151Arg,ENST00000513610,;MYO10,missense_variant,p.Gln118Arg,ENST00000502436,;	907	71	72	SUCCESS
PHYKPL	85007	.	GRCh37	5	177652372	177652372	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780234084	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	94	0	ENST00000308158.5:c.397G>A	p.Val133Met	p.V133M	ENST00000308158	NM_001278346.1	133	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS4434.1	397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGTCCT	NONE	byFrequency	.	hmmpanther:PTHR11986:SF52,hmmpanther:PTHR11986,Pfam_domain:PF00202,Gene3D:3.40.640.10,PIRSF_domain:PIRSF000521,Superfamily_domains:SSF53383	.	.	ENSP00000310978	.	4/13	.	.	.	.	.	.	.	.	rs780234084	4/13	PASS	ENST00000308158	Transcript	1	.	ENSG00000175309	28249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.812)	.	tolerated(0.35)	.	AT2L2_HUMAN	PHYKPL	HGNC	H0YAK5_HUMAN	.	UPI00000746D3	SNV	PHYKPL,missense_variant,p.Val147Met,ENST00000323594,;PHYKPL,missense_variant,p.Val133Met,ENST00000308158,;PHYKPL,downstream_gene_variant,,ENST00000476170,;PHYKPL,intron_variant,,ENST00000481811,;PHYKPL,downstream_gene_variant,,ENST00000511716,;PHYKPL,missense_variant,p.Val65Met,ENST00000510913,;PHYKPL,3_prime_UTR_variant,,ENST00000493197,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000489262,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000494126,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000506001,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000481436,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000514424,;PHYKPL,intron_variant,,ENST00000474052,;PHYKPL,intron_variant,,ENST00000510991,;PHYKPL,upstream_gene_variant,,ENST00000393488,;PHYKPL,upstream_gene_variant,,ENST00000476487,;PHYKPL,upstream_gene_variant,,ENST00000504096,;PHYKPL,upstream_gene_variant,,ENST00000506045,;	632	94	77	SUCCESS
NBPF22P	285622	.	GRCh37	5	85586730	85586730	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	238	49	349	0	ENST00000590707.1:n.1017G>A		p.*339*	ENST00000590707				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCACAGCTGGA	NONE	.	.	.	.	.	.	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000590707	Transcript	.	.	ENSG00000205449	28731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NBPF22P	HGNC	.	.	.	SNV	NBPF22P,non_coding_transcript_exon_variant,,ENST00000590707,;NBPF22P,non_coding_transcript_exon_variant,,ENST00000508988,;	1017	349	287	SUCCESS
PEX7	5191	.	GRCh37	6	137191048	137191048	+	synonymous_variant	Silent	SNP	G	G	T	rs1414537422	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	90	0	ENST00000318471.4:c.654G>T	p.Ala218=	p.A218=	ENST00000318471	NM_000288.3	218	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS5180.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCGGTTGA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF98,hmmpanther:PTHR22850,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000315680	.	7/10	.	.	.	.	.	.	.	.	COSM3858535	7/10	PASS	ENST00000318471	Transcript	.	.	ENSG00000112357	8860	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PEX7_HUMAN	PEX7	HGNC	Q6FGN1_HUMAN	.	UPI00001316F3	SNV	PEX7,synonymous_variant,p.%3D,ENST00000318471,;PEX7,synonymous_variant,p.%3D,ENST00000541292,;	735	90	63	SUCCESS
TFB1M	51106	.	GRCh37	6	155618121	155618121	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	57	0	ENST00000367166.4:c.512A>G	p.Gln171Arg	p.Q171R	ENST00000367166	NM_016020.3	171	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5248.1	512	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTGAGTT	NONE	.	.	HAMAP:MF_00607,PROSITE_profiles:PS51689,hmmpanther:PTHR11727,hmmpanther:PTHR11727:SF10,Gene3D:3.40.50.150,Pfam_domain:PF00398,SMART_domains:SM00650,Superfamily_domains:SSF53335	.	.	ENSP00000356134	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000367166	Transcript	.	.	ENSG00000029639	17037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(1)	.	TFB1M_HUMAN	TFB1M	HGNC	E5KTM5_HUMAN	.	UPI000003B01A	SNV	TFB1M,missense_variant,p.Gln171Arg,ENST00000367166,;TFB1M,non_coding_transcript_exon_variant,,ENST00000468889,;TFB1M,non_coding_transcript_exon_variant,,ENST00000489874,;TFB1M,non_coding_transcript_exon_variant,,ENST00000487586,;TFB1M,intron_variant,,ENST00000470239,;TFB1M,downstream_gene_variant,,ENST00000475849,;	568	57	66	SUCCESS
TRIM26	7726	.	GRCh37	6	30166750	30166750	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371459188	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	77	0	ENST00000454678.2:c.131G>A	p.Arg44His	p.R44H	ENST00000454678	NM_003449.4	44	cGc/cAc	0	T:0	.	.	.	.	T	R/H	protein_coding	YES	CCDS4678.1	131	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCGGACG	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF277,hmmpanther:PTHR24103,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	T:0.0002	ENSP00000410446	.	4/10	.	.	.	.	.	.	.	.	rs371459188	4/10	PASS	ENST00000454678	Transcript	.	.	ENSG00000234127	12962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.041)	.	tolerated(0.21)	.	TRI26_HUMAN	TRIM26	HGNC	Q5SPU2_HUMAN,A2AE50_HUMAN,A2AE48_HUMAN	.	UPI0000001C20	SNV	TRIM26,missense_variant,p.Arg44His,ENST00000416596,;TRIM26,missense_variant,p.Arg44His,ENST00000454678,;TRIM26,missense_variant,p.Arg44His,ENST00000418026,;TRIM26,missense_variant,p.Arg44His,ENST00000434785,;TRIM26,missense_variant,p.Arg44His,ENST00000453195,;TRIM26,missense_variant,p.Arg44His,ENST00000437089,;TRIM26,non_coding_transcript_exon_variant,,ENST00000487829,;	568	77	64	SUCCESS
TULP1	7287	.	GRCh37	6	35477660	35477660	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	79	0	ENST00000229771.6:c.545G>A	p.Arg182Lys	p.R182K	ENST00000229771	NM_003322.3	182	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS4807.1	545	MUTECT|MUSE	.	TATTCCTAACA	NONE	.	.	hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12	.	.	ENSP00000229771	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000229771	Transcript	.	.	ENSG00000112041	12423	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	TULP1_HUMAN	TULP1	HGNC	Q0QD38_HUMAN	.	UPI000045742A	SNV	TULP1,missense_variant,p.Arg182Lys,ENST00000229771,;TULP1,missense_variant,p.Arg134Lys,ENST00000428978,;TULP1,missense_variant,p.Arg129Lys,ENST00000322263,;TULP1,intron_variant,,ENST00000373892,;TULP1,downstream_gene_variant,,ENST00000448446,;TULP1,upstream_gene_variant,,ENST00000496434,;	625	79	58	SUCCESS
GNMT	27232	.	GRCh37	6	42931160	42931160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	13	93	0	ENST00000372808.3:c.689C>A	p.Ala230Asp	p.A230D	ENST00000372808	NM_018960.4	230	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS4876.1	689	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCTGGCC	NONE	.	.	Superfamily_domains:SSF53335,PIRSF_domain:PIRSF000385,Gene3D:2idjD01,hmmpanther:PTHR16458,PROSITE_profiles:PS51600	.	.	ENSP00000361894	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000372808	Transcript	.	.	ENSG00000124713	4415	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.63)	.	GNMT_HUMAN	GNMT	HGNC	.	.	UPI000000161D	SNV	GNMT,missense_variant,p.Ala230Asp,ENST00000372808,;PEX6,downstream_gene_variant,,ENST00000304611,;PEX6,downstream_gene_variant,,ENST00000244546,;	699	93	90	SUCCESS
KLHL31	401265	.	GRCh37	6	53517065	53517065	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	71	0	ENST00000370905.3:c.1236C>T	p.Phe412=	p.F412=	ENST00000370905	NM_001003760.4	412	ttC/ttT	0	.	.	.	.	.	A	F	protein_coding	YES	CCDS34478.1	1236	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTGAAGTG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF58,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	.	.	ENSP00000359942	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370905	Transcript	.	.	ENSG00000124743	21353	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLH31_HUMAN	KLHL31	HGNC	.	.	UPI000006D624	SNV	KLHL31,synonymous_variant,p.%3D,ENST00000407079,;KLHL31,synonymous_variant,p.%3D,ENST00000370905,;	1377	71	53	SUCCESS
DTX2	113878	.	GRCh37	7	76132782	76132782	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	17	141	0	ENST00000324432.5:c.1429G>T	p.Gly477Ter	p.G477*	ENST00000324432	NM_020892.2	477	Gga/Tga	0	.	.	.	.	.	T	G/*	protein_coding	YES	CCDS5587.1	1429	MUTECT|MUSE|VARSCANS	.	TCTATGGAGAG	NONE	.	.	Superfamily_domains:SSF57850,Gene3D:3.30.40.10,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21	.	.	ENSP00000322885	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000324432	Transcript	.	.	ENSG00000091073	15973	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DTX2_HUMAN	DTX2	HGNC	Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN	.	UPI00001413A2	SNV	DTX2,stop_gained,p.Gly386Ter,ENST00000446600,;DTX2,stop_gained,p.Gly430Ter,ENST00000307569,;DTX2,stop_gained,p.Gly477Ter,ENST00000324432,;DTX2,stop_gained,p.Gly477Ter,ENST00000430490,;DTX2,stop_gained,p.Gly477Ter,ENST00000413936,;DTX2,stop_gained,p.Gly430Ter,ENST00000446820,;DTX2,non_coding_transcript_exon_variant,,ENST00000465488,;DTX2,non_coding_transcript_exon_variant,,ENST00000479915,;DTX2,non_coding_transcript_exon_variant,,ENST00000468546,;DTX2,downstream_gene_variant,,ENST00000467729,;DTX2,downstream_gene_variant,,ENST00000435251,;	1939	141	170	SUCCESS
ZNF250	58500	.	GRCh37	8	146106995	146106995	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	92	0	ENST00000292579.7:c.1588A>G	p.Thr530Ala	p.T530A	ENST00000292579	NM_021061.4	530	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34972.1	1588	MUTECT|MUSE	.	GCCTGTGTGGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF112,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000292579	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292579	Transcript	.	.	ENSG00000196150	13044	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	deleterious(0.01)	.	ZN250_HUMAN	ZNF250	HGNC	.	.	UPI0000197F51	SNV	ZNF250,missense_variant,p.Thr530Ala,ENST00000292579,;ZNF250,missense_variant,p.Thr525Ala,ENST00000417550,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;ZNF250,intron_variant,,ENST00000533543,;	1705	92	79	SUCCESS
BSPRY	54836	.	GRCh37	9	116122865	116122865	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs773758644	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	82	0	ENST00000374183.4:c.379C>T	p.Arg127Trp	p.R127W	ENST00000374183	NM_017688.2	127	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS43868.1	379	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGGTTA	NONE	byFrequency	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF242	.	.	ENSP00000363298	.	3/6	.	.	.	.	.	.	.	.	rs773758644	3/6	PASS	ENST00000374183	Transcript	.	.	ENSG00000119411	18232	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	BSPRY_HUMAN	BSPRY	HGNC	.	.	UPI000013CA39	SNV	BSPRY,missense_variant,p.Arg127Trp,ENST00000374183,;BSPRY,non_coding_transcript_exon_variant,,ENST00000462085,;	418	82	63	SUCCESS
DFNB31	0	.	GRCh37	9	117267150	117267150	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	77	0	ENST00000362057.3:c.-69G>A		p.*23*	ENST00000362057	NM_001173425.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6806.1	.	MUTECT|MUSE	.	GGGTACTGGCG	NONE	.	.	.	.	.	ENSP00000354623	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000362057	Transcript	.	.	ENSG00000095397	16361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WHRN_HUMAN	DFNB31	HGNC	.	.	UPI00001C1EA6	SNV	DFNB31,5_prime_UTR_variant,,ENST00000362057,;DFNB31,5_prime_UTR_variant,,ENST00000374057,;DFNB31,upstream_gene_variant,,ENST00000265134,;DFNB31,upstream_gene_variant,,ENST00000480518,;	101	77	91	SUCCESS
CEP78	84131	.	GRCh37	9	80880791	80880791	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	33	284	0	ENST00000424347.2:c.1797+332A>G		p.*599*	ENST00000424347		606		0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS47984.1	1817	RADIA|MUTECT|MUSE|VARSCANS	.	TATGCAGTCAG	NONE	.	.	hmmpanther:PTHR24110	.	.	ENSP00000365782	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000376597	Transcript	.	.	ENSG00000148019	25740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.888)	.	deleterious_low_confidence(0.02)	.	CEP78_HUMAN	CEP78	HGNC	.	.	UPI000153BFA4	SNV	CEP78,missense_variant,p.Gln605Arg,ENST00000376598,;CEP78,missense_variant,p.Gln606Arg,ENST00000376597,;CEP78,intron_variant,,ENST00000277082,;CEP78,intron_variant,,ENST00000424347,;CEP78,intron_variant,,ENST00000415759,;CEP78,intron_variant,,ENST00000476652,;CEP78,downstream_gene_variant,,ENST00000487108,;CEP78,intron_variant,,ENST00000447629,;CEP78,downstream_gene_variant,,ENST00000498582,;CEP78,downstream_gene_variant,,ENST00000459817,;	1961	284	212	SUCCESS
DRP2	1821	.	GRCh37	X	100496711	100496711	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs755031248	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	92	0	ENST00000395209.3:c.614C>G	p.Ala205Gly	p.A205G	ENST00000395209	NM_001939.2	205	gCg/gGg	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS14480.2	614	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCGACGG	NONE	.	.	hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF038205	.	.	ENSP00000378635	.	7/24	.	.	.	.	.	.	.	.	rs755031248	7/24	PASS	ENST00000395209	Transcript	.	.	ENSG00000102385	3032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.737)	.	deleterious(0)	.	DRP2_HUMAN	DRP2	HGNC	.	.	UPI000013D388	SNV	DRP2,missense_variant,p.Ala205Gly,ENST00000538510,;DRP2,missense_variant,p.Ala205Gly,ENST00000402866,;DRP2,missense_variant,p.Ala127Gly,ENST00000541709,;DRP2,missense_variant,p.Ala205Gly,ENST00000395209,;DRP2,missense_variant,p.Ala205Gly,ENST00000372916,;	1141	92	58	SUCCESS
FATE1	89885	.	GRCh37	X	150889930	150889930	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs150252397	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	34	222	0	ENST00000370350.3:c.298G>T	p.Glu100Ter	p.E100*	ENST00000370350	NM_033085.2	100	Gag/Tag	0	C:0.0003	.	.	.	.	T	E/*	protein_coding	YES	CCDS14700.1	298	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGAGTAC	NONE	byFrequency|byCluster	.	Pfam_domain:PF05644,hmmpanther:PTHR21128	.	C:0.0004	ENSP00000359375	.	3/5	.	.	.	.	.	.	.	.	rs150252397	3/5	PASS	ENST00000370350	Transcript	.	.	ENSG00000147378	24683	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FATE1_HUMAN	FATE1	HGNC	.	.	UPI0000073DB2	SNV	FATE1,stop_gained,p.Glu100Ter,ENST00000370350,;FATE1,intron_variant,,ENST00000417321,;	383	223	203	SUCCESS
GABRQ	55879	.	GRCh37	X	151817747	151817747	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	16	127	0	ENST00000370306.2:c.561G>A	p.Leu187=	p.L187=	ENST00000370306	NM_018558.3	187	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14707.1	561	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTGCATAA	NONE	.	.	Prints_domain:PR00252,Superfamily_domains:0038932,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,PROSITE_patterns:PS00236,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	.	.	ENSP00000359329	.	5/9	.	.	.	.	.	.	.	.	COSM755870	5/9	PASS	ENST00000370306	Transcript	.	.	ENSG00000147402	14454	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	GBRT_HUMAN	GABRQ	HGNC	.	.	UPI000012AFA9	SNV	GABRQ,synonymous_variant,p.%3D,ENST00000370306,;	581	127	98	SUCCESS
CDKL5	6792	.	GRCh37	X	18627641	18627641	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	156	8	195	0	ENST00000379989.3:c.2103A>G	p.Arg701=	p.R701=	ENST00000379989	NM_001037343.1	701	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS14186.1	2103	MUTECT|MUSE	.	AATAGACACCT	NONE	.	.	.	.	.	ENSP00000369325	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000379989	Transcript	.	.	ENSG00000008086	11411	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDKL5_HUMAN	CDKL5	HGNC	.	.	UPI0000136103	SNV	CDKL5,synonymous_variant,p.%3D,ENST00000379989,;CDKL5,synonymous_variant,p.%3D,ENST00000379996,;CDKL5,non_coding_transcript_exon_variant,,ENST00000463994,;	2388	195	164	SUCCESS
MXRA5	25878	.	GRCh37	X	3235500	3235500	+	synonymous_variant	Silent	SNP	C	C	A	rs752606061	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	7	140	0	ENST00000217939.6:c.6222G>T	p.Ala2074=	p.A2074=	ENST00000217939	NM_015419.3	2074	gcG/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14124.1	6222	MUTECT|MUSE	.	AGGGGCGCAGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000217939	.	6/7	.	.	.	.	.	.	.	.	COSM756195,COSM756196	6/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	LOW	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,synonymous_variant,p.%3D,ENST00000217939,;	6377	140	89	SUCCESS
EDA2R	60401	.	GRCh37	X	65822603	65822603	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	223	43	323	0	ENST00000374719.3:c.389C>A	p.Pro130His	p.P130H	ENST00000374719	NM_021783.3	130	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS56603.1	389	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGGTGTA	NONE	.	.	hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF8,Prints_domain:PR01973	.	.	ENSP00000402929	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000450752	Transcript	.	.	ENSG00000131080	17756	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.081)	.	tolerated(0.14)	.	TNR27_HUMAN	EDA2R	HGNC	.	.	UPI00001B037F	SNV	EDA2R,missense_variant,p.Pro130His,ENST00000456230,;EDA2R,missense_variant,p.Pro130His,ENST00000396050,;EDA2R,missense_variant,p.Pro130His,ENST00000450752,;EDA2R,missense_variant,p.Pro130His,ENST00000374719,;EDA2R,missense_variant,p.Pro130His,ENST00000253392,;EDA2R,synonymous_variant,p.%3D,ENST00000451436,;	446	323	266	SUCCESS
EDRF1	26098	.	GRCh37	10	127408315	127408315	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs549470269	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	38	109	0	ENST00000356792.4:c.-62G>A		p.*21*	ENST00000356792	NM_001202438.1			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS55733.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGGCCTGC	NONE	by1000G	.	.	T:0	.	ENSP00000349244	T:0	1/25	.	.	.	.	.	.	.	.	rs549470269	1/25	PASS	ENST00000356792	Transcript	.	T:0.0002	ENSG00000107938	24640	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	EDRF1_HUMAN	EDRF1	HGNC	.	.	UPI00005CA2E3	SNV	EDRF1,5_prime_UTR_variant,,ENST00000356792,;EDRF1,5_prime_UTR_variant,,ENST00000337623,;RP11-383C5.4,upstream_gene_variant,,ENST00000527483,;RP11-383C5.4,upstream_gene_variant,,ENST00000528844,;RP11-383C5.4,upstream_gene_variant,,ENST00000525909,;RP11-383C5.4,upstream_gene_variant,,ENST00000423178,;RP11-383C5.4,upstream_gene_variant,,ENST00000531977,;RP11-383C5.5,upstream_gene_variant,,ENST00000430970,;EDRF1,5_prime_UTR_variant,,ENST00000368815,;EDRF1,5_prime_UTR_variant,,ENST00000481600,;EDRF1,5_prime_UTR_variant,,ENST00000419769,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;	171	109	94	SUCCESS
JAKMIP3	282973	.	GRCh37	10	133930963	133930963	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs371280434	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	50	81	0	ENST00000298622.4:c.518C>T	p.Thr173Met	p.T173M	ENST00000298622	NM_001105521.2	173	aCg/aTg	0	T:0	.	.	.	.	T	T/M	protein_coding	YES	CCDS44494.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACGCTGG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935:SF5,hmmpanther:PTHR18935	.	T:0.0001	ENSP00000298622	.	2/24	.	.	.	.	.	.	.	.	rs371280434	2/24	PASS	ENST00000298622	Transcript	.	.	ENSG00000188385	23523	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	deleterious(0)	.	JKIP3_HUMAN	JAKMIP3	HGNC	.	.	UPI000157482F	SNV	JAKMIP3,missense_variant,p.Thr173Met,ENST00000298622,;	656	81	96	SUCCESS
AL603965.1	0	.	GRCh37	10	47747097	47747097	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	384	294	782	0	ENST00000335083.5:c.-143C>A		p.*48*	ENST00000335083				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7216.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCCCGAA	NONE	.	.	.	.	.	ENSP00000363395	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000374277	Transcript	.	.	ENSG00000186807	23335	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AXA82_HUMAN	ANXA8L2	HGNC	.	.	UPI00003666AA	SNV	ANXA8L2,5_prime_UTR_variant,,ENST00000449464,;ANXA8L2,5_prime_UTR_variant,,ENST00000538825,;ANXA8L2,5_prime_UTR_variant,,ENST00000374277,;AL603965.1,5_prime_UTR_variant,,ENST00000335083,;ANXA8L2,5_prime_UTR_variant,,ENST00000340243,;FAM25HP,non_coding_transcript_exon_variant,,ENST00000445847,;FAM25HP,downstream_gene_variant,,ENST00000399377,;	108	783	679	SUCCESS
CHST3	9469	.	GRCh37	10	73767585	73767585	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1041291103	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	27	37	0	ENST00000373115.4:c.796C>G	p.Arg266Gly	p.R266G	ENST00000373115	NM_004273.4	266	Cgc/Ggc	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS7312.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGCAAG	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF005883,Pfam_domain:PF00685,hmmpanther:PTHR10704:SF38,hmmpanther:PTHR10704	.	.	ENSP00000362207	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373115	Transcript	1	.	ENSG00000122863	1971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.281)	.	tolerated(0.28)	.	CHST3_HUMAN	CHST3	HGNC	.	.	UPI000013CB04	SNV	CHST3,missense_variant,p.Arg266Gly,ENST00000373115,;	1233	37	41	SUCCESS
GATA3	2625	.	GRCh37	10	8106075	8106075	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs774440409	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	40	129	0	ENST00000346208.3:c.895C>A	p.Pro299Thr	p.P299T	ENST00000346208		299	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS31143.1	898	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGCCCCTC	NONE	.	.	PROSITE_profiles:PS50114,hmmpanther:PTHR10071:SF106,hmmpanther:PTHR10071,Gene3D:3.30.50.10,SMART_domains:SM00401,PIRSF_domain:PIRSF003027,Superfamily_domains:SSF57716	.	.	ENSP00000368632	.	4/6	.	.	.	.	.	.	.	.	rs774440409	4/6	PASS	ENST00000379328	Transcript	1	.	ENSG00000107485	4172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.834)	.	deleterious(0)	.	GATA3_HUMAN	GATA3	HGNC	.	.	UPI000002AA34	SNV	GATA3,missense_variant,p.Pro299Thr,ENST00000346208,;GATA3,missense_variant,p.Pro300Thr,ENST00000379328,;GATA3,intron_variant,,ENST00000461472,;	1466	129	96	SUCCESS
OPN4	94233	.	GRCh37	10	88417835	88417835	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747304015	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	29	58	0	ENST00000241891.5:c.337G>A	p.Ala113Thr	p.A113T	ENST00000241891	NM_033282.3	113	Gcg/Acg	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31237.1	370	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCGCGGTC	NONE	byFrequency	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000361141	.	4/11	.	.	.	.	.	.	.	.	rs747304015	4/11	PASS	ENST00000372071	Transcript	.	.	ENSG00000122375	14449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	OPN4_HUMAN	OPN4	HGNC	.	.	UPI00001544ED	SNV	OPN4,missense_variant,p.Ala113Thr,ENST00000241891,;OPN4,missense_variant,p.Ala124Thr,ENST00000372071,;OPN4,missense_variant,p.Ala124Thr,ENST00000443292,;	597	58	63	SUCCESS
OR8B8	26493	.	GRCh37	11	124310418	124310418	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	61	125	0	ENST00000328064.2:c.564T>C	p.Ala188=	p.A188=	ENST00000328064	NM_012378.1	188	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS8446.1	564	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAAGCACA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF5,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000330280	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328064	Transcript	.	.	ENSG00000197125	8477	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8B8_HUMAN	OR8B8	HGNC	.	.	UPI00000015B1	SNV	OR8B8,synonymous_variant,p.%3D,ENST00000328064,;	637	125	130	SUCCESS
INSC	387755	.	GRCh37	11	15243031	15243031	+	synonymous_variant	Silent	SNP	C	C	T	rs765348692	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	62	124	0	ENST00000379554.3:c.969C>T	p.Gly323=	p.G323=	ENST00000379554	NM_001031853.4	323	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41621.1	969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCGTTCT	NONE	byFrequency	.	hmmpanther:PTHR21386,hmmpanther:PTHR21386:SF0,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	.	.	ENSP00000368872	.	8/13	.	.	.	.	.	.	.	.	rs765348692	8/13	PASS	ENST00000379554	Transcript	.	.	ENSG00000188487	33116	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSC_HUMAN	INSC	HGNC	.	.	UPI0000D63F1D	SNV	INSC,synonymous_variant,p.%3D,ENST00000379556,;INSC,synonymous_variant,p.%3D,ENST00000424273,;INSC,synonymous_variant,p.%3D,ENST00000379554,;INSC,synonymous_variant,p.%3D,ENST00000528567,;INSC,synonymous_variant,p.%3D,ENST00000525218,;INSC,synonymous_variant,p.%3D,ENST00000530161,;INSC,non_coding_transcript_exon_variant,,ENST00000447214,;	1015	124	155	SUCCESS
TSSC2	650368	.	GRCh37	11	3428843	3428843	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	30	120	0	ENST00000529482.1:n.1960T>C		p.*654*	ENST00000529482				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTCTCTG	NONE	.	.	.	.	.	.	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000529482	Transcript	.	.	ENSG00000223756	12384	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TSSC2	HGNC	.	.	.	SNV	TSSC2,non_coding_transcript_exon_variant,,ENST00000529482,;TSSC2,intron_variant,,ENST00000533775,;TSSC2,intron_variant,,ENST00000450217,;FAM86GP,downstream_gene_variant,,ENST00000448322,;	1960	120	107	SUCCESS
FNBP4	23360	.	GRCh37	11	47755616	47755616	+	synonymous_variant	Silent	SNP	T	T	C	rs79878695	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	57	1	ENST00000263773.5:c.1647A>G	p.Gln549=	p.Q549=	ENST00000263773	NM_015308.2	549	caA/caG	0	.	C:0.0008	.	C:0	.	C	Q	protein_coding	YES	CCDS41644.1	1647	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGATTGTCT	NONE	by1000G	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186	C:0	.	ENSP00000263773	C:0	10/17	.	.	.	.	.	.	.	.	rs79878695	10/17	PASS	ENST00000263773	Transcript	.	C:0.0002	ENSG00000109920	19752	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	FNBP4_HUMAN	FNBP4	HGNC	.	.	UPI0000DBEF37	SNV	FNBP4,synonymous_variant,p.%3D,ENST00000263773,;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,non_coding_transcript_exon_variant,,ENST00000527894,;FNBP4,non_coding_transcript_exon_variant,,ENST00000528388,;FNBP4,non_coding_transcript_exon_variant,,ENST00000525792,;FNBP4,upstream_gene_variant,,ENST00000529156,;FNBP4,upstream_gene_variant,,ENST00000531394,;FNBP4,upstream_gene_variant,,ENST00000525316,;FNBP4,upstream_gene_variant,,ENST00000524696,;	1660	58	59	SUCCESS
OR52N1	79473	.	GRCh37	11	5809377	5809377	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	55	107	0	ENST00000317078.1:c.670C>T	p.Leu224Phe	p.L224F	ENST00000317078	NM_001001913.1	224	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS31398.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGAATCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF107,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000322823	.	1/1	.	.	.	.	.	.	.	.	COSM3449926	1/1	PASS	ENST00000317078	Transcript	.	.	ENSG00000181001	14853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.208)	.	deleterious(0.02)	1	O52N1_HUMAN	OR52N1	HGNC	.	.	UPI0000041BDD	SNV	OR52N1,missense_variant,p.Leu224Phe,ENST00000317078,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	670	107	101	SUCCESS
MS4A15	219995	.	GRCh37	11	60541328	60541328	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	42	0	ENST00000405633.3:c.517C>A	p.Leu173Met	p.L173M	ENST00000405633	NM_001098835.1	173	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS44617.1	517	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATCTGGCC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF51	.	.	ENSP00000386022	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000405633	Transcript	.	.	ENSG00000166961	28573	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.22)	.	M4A15_HUMAN	MS4A15	HGNC	.	.	UPI00001FA81E	SNV	MS4A15,missense_variant,p.Leu80Met,ENST00000337911,;MS4A15,missense_variant,p.Leu173Met,ENST00000405633,;MS4A15,missense_variant,p.Leu132Met,ENST00000528170,;MS4A15,3_prime_UTR_variant,,ENST00000429322,;	596	42	62	SUCCESS
CD6	923	.	GRCh37	11	60785356	60785356	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs751990922	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	53	105	0	ENST00000313421.7:c.1708G>T	p.Glu570Ter	p.E570*	ENST00000313421	NM_006725.4	570	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS7999.1	1708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGGAGGAT	NONE	.	.	hmmpanther:PTHR19331:SF252,hmmpanther:PTHR19331	.	.	ENSP00000323280	.	11/13	.	.	.	.	.	.	.	.	rs751990922	11/13	PASS	ENST00000313421	Transcript	.	.	ENSG00000013725	1691	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD6_HUMAN	CD6	HGNC	.	.	UPI000013F532	SNV	CD6,stop_gained,p.Glu497Ter,ENST00000346437,;CD6,stop_gained,p.Glu529Ter,ENST00000452451,;CD6,stop_gained,p.Glu570Ter,ENST00000313421,;CD6,stop_gained,p.Glu538Ter,ENST00000344028,;CD6,stop_gained,p.Glu538Ter,ENST00000352009,;CD6,downstream_gene_variant,,ENST00000433107,;CD6,downstream_gene_variant,,ENST00000542157,;CD6,downstream_gene_variant,,ENST00000538611,;CD6,downstream_gene_variant,,ENST00000545105,;CD6,3_prime_UTR_variant,,ENST00000344931,;CD6,non_coding_transcript_exon_variant,,ENST00000505761,;CD6,downstream_gene_variant,,ENST00000419282,;	1894	105	106	SUCCESS
SYT7	9066	.	GRCh37	11	61295627	61295627	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746777211	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	39	1	ENST00000263846.4:c.382C>T	p.His128Tyr	p.H128Y	ENST00000263846	NM_004200.3	128	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS58139.1	607	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGTGGGCCT	NONE	byFrequency	.	hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF97	.	.	ENSP00000444201	.	6/10	.	.	.	.	.	.	.	.	rs746777211	6/10	PASS	ENST00000540677	Transcript	.	.	ENSG00000011347	11514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.526)	.	deleterious(0)	.	SYT7_HUMAN	SYT7	HGNC	.	.	UPI0001639ECE	SNV	SYT7,missense_variant,p.His247Tyr,ENST00000535826,;SYT7,missense_variant,p.His172Tyr,ENST00000542836,;SYT7,missense_variant,p.His128Tyr,ENST00000263846,;SYT7,missense_variant,p.His411Tyr,ENST00000539008,;SYT7,missense_variant,p.His203Tyr,ENST00000540677,;SYT7,missense_variant,p.His128Tyr,ENST00000545053,;SYT7,missense_variant,p.His336Tyr,ENST00000542670,;SYT7,non_coding_transcript_exon_variant,,ENST00000540831,;SYT7,3_prime_UTR_variant,,ENST00000539246,;SYT7,3_prime_UTR_variant,,ENST00000539468,;	613	40	39	SUCCESS
HEPHL1	341208	.	GRCh37	11	93839186	93839186	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	53	130	0	ENST00000315765.9:c.2935C>G	p.His979Asp	p.H979D	ENST00000315765	NM_001098672.1	979	Cat/Gat	0	.	.	.	.	.	G	H/D	protein_coding	YES	CCDS44710.1	2935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCCATGGC	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07731,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000313699	.	17/20	.	.	.	.	.	.	.	.	COSM3454739	17/20	PASS	ENST00000315765	Transcript	.	.	ENSG00000181333	30477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.07)	.	tolerated(0.37)	1	HPHL1_HUMAN	HEPHL1	HGNC	.	.	UPI0000237563	SNV	HEPHL1,missense_variant,p.His979Asp,ENST00000315765,;	2943	130	141	SUCCESS
HNF1A	6927	.	GRCh37	12	121437070	121437070	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	111	0	ENST00000257555.6:c.1502-1G>A		p.X501_splice	ENST00000257555		501		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9209.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGCCCTC	NONE	.	.	.	.	.	ENSP00000257555	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000257555	Transcript	.	.	ENSG00000135100	11621	.	.	HIGH	7/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HNF1A	HGNC	E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN	.	UPI000013CF6C	SNV	HNF1A,splice_acceptor_variant,,ENST00000544413,;HNF1A,splice_acceptor_variant,,ENST00000541395,;HNF1A,splice_acceptor_variant,,ENST00000257555,;C12orf43,downstream_gene_variant,,ENST00000538296,;C12orf43,downstream_gene_variant,,ENST00000288757,;HNF1A,downstream_gene_variant,,ENST00000400024,;HNF1A,downstream_gene_variant,,ENST00000402929,;C12orf43,downstream_gene_variant,,ENST00000546272,;C12orf43,downstream_gene_variant,,ENST00000536407,;C12orf43,downstream_gene_variant,,ENST00000539736,;C12orf43,downstream_gene_variant,,ENST00000445832,;C12orf43,downstream_gene_variant,,ENST00000535367,;HNF1A,downstream_gene_variant,,ENST00000538626,;C12orf43,downstream_gene_variant,,ENST00000366211,;HNF1A,downstream_gene_variant,,ENST00000543427,;C12orf43,downstream_gene_variant,,ENST00000537817,;HNF1A,downstream_gene_variant,,ENST00000535955,;RP11-216P16.2,downstream_gene_variant,,ENST00000606238,;HNF1A,splice_acceptor_variant,,ENST00000560968,;HNF1A,splice_acceptor_variant,,ENST00000540108,;C12orf43,downstream_gene_variant,,ENST00000502891,;HNF1A,downstream_gene_variant,,ENST00000544574,;HNF1A,downstream_gene_variant,,ENST00000541924,;HNF1A,downstream_gene_variant,,ENST00000543255,;HNF1A,downstream_gene_variant,,ENST00000538646,;	.	111	95	SUCCESS
SLCO1C1	53919	.	GRCh37	12	20903660	20903660	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1450408967	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	66	140	0	ENST00000266509.2:c.1850T>C	p.Leu617Pro	p.L617P	ENST00000266509	NM_017435.4	617	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS53757.1	1850	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTCAAAT	NONE	.	.	hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF18,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Pfam_domain:PF03137,Superfamily_domains:SSF103473	.	.	ENSP00000370964	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000381552	Transcript	.	.	ENSG00000139155	13819	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SO1C1_HUMAN	SLCO1C1	HGNC	.	.	UPI00004C3E1B	SNV	SLCO1C1,missense_variant,p.Leu617Pro,ENST00000381552,;SLCO1C1,missense_variant,p.Leu617Pro,ENST00000545604,;SLCO1C1,missense_variant,p.Leu499Pro,ENST00000545102,;SLCO1C1,missense_variant,p.Leu617Pro,ENST00000266509,;SLCO1C1,missense_variant,p.Leu568Pro,ENST00000540354,;SLCO1C1,3_prime_UTR_variant,,ENST00000539415,;	2218	140	134	SUCCESS
C2CD5	9847	.	GRCh37	12	22697019	22697019	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs1592071981	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	59	0	ENST00000333957.4:c.66T>G	p.Ser22Arg	p.S22R	ENST00000333957	NM_014802.1	22	agT/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS31758.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCACTAGC	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	.	.	ENSP00000334229	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.559)	.	deleterious(0)	.	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,missense_variant,p.Ser22Arg,ENST00000545552,;C2CD5,missense_variant,p.Ser22Arg,ENST00000333957,;C2CD5,missense_variant,p.Ser22Arg,ENST00000542676,;C2CD5,missense_variant,p.Ser22Arg,ENST00000446597,;C2CD5,missense_variant,p.Ser22Arg,ENST00000536386,;C2CD5,missense_variant,p.Ser22Arg,ENST00000396028,;C2CD5,5_prime_UTR_variant,,ENST00000544930,;C2CD5,non_coding_transcript_exon_variant,,ENST00000535304,;C2CD5,non_coding_transcript_exon_variant,,ENST00000541310,;	322	59	71	SUCCESS
KRT85	3891	.	GRCh37	12	52757162	52757162	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	43	95	1	ENST00000257901.3:c.819C>T	p.Asp273=	p.D273=	ENST00000257901	NM_002283.3	273	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS8824.1	819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTGTCTGA	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239	.	.	ENSP00000257901	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000257901	Transcript	.	.	ENSG00000135443	6462	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,synonymous_variant,p.%3D,ENST00000544265,;KRT85,synonymous_variant,p.%3D,ENST00000257901,;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;	895	96	81	SUCCESS
KRT6A	3853	.	GRCh37	12	52884732	52884732	+	synonymous_variant	Silent	SNP	C	C	T	rs368725695	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	50	115	0	ENST00000330722.6:c.822G>A	p.Val274=	p.V274=	ENST00000330722	NM_005554.3	274	gtG/gtA	0	A:0.0002	.	.	.	.	T	V	protein_coding	YES	CCDS41786.1	822	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCACATC	NONE	byFrequency|byCluster	.	Pfam_domain:PF00038,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	A:0.0002	ENSP00000369317	.	4/9	.	.	.	.	.	.	.	.	rs368725695	4/9	PASS	ENST00000330722	Transcript	.	.	ENSG00000205420	6443	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C6A_HUMAN	KRT6A	HGNC	.	.	UPI000013CD4C	SNV	KRT6A,synonymous_variant,p.%3D,ENST00000330722,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549600,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549754,;KRT6A,upstream_gene_variant,,ENST00000548735,;	891	115	129	SUCCESS
KRT78	196374	.	GRCh37	12	53238491	53238491	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	28	0	ENST00000304620.4:c.773A>C	p.Gln258Pro	p.Q258P	ENST00000304620	NM_173352.2	258	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS8840.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCTGGAGC	NONE	.	.	Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF127	.	.	ENSP00000306261	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000304620	Transcript	.	.	ENSG00000170423	28926	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.915)	.	deleterious(0)	.	K2C78_HUMAN	KRT78	HGNC	F8VS93_HUMAN,B4DQ49_HUMAN	.	UPI00001AEDBE	SNV	KRT78,missense_variant,p.Gln148Pro,ENST00000359499,;KRT78,missense_variant,p.Gln29Pro,ENST00000547110,;KRT78,missense_variant,p.Gln258Pro,ENST00000304620,;KRT78,upstream_gene_variant,,ENST00000547920,;KRT78,downstream_gene_variant,,ENST00000551581,;	837	28	26	SUCCESS
LPCAT3	10162	.	GRCh37	12	7125602	7125602	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	26	74	0	ENST00000261407.4:c.127C>G	p.Arg43Gly	p.R43G	ENST00000261407	NM_005768.5	43	Cgg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS8572.1	127	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCAGCG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13906:SF9,hmmpanther:PTHR13906	.	.	ENSP00000261407	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000261407	Transcript	.	.	ENSG00000111684	30244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	deleterious(0)	.	MBOA5_HUMAN	LPCAT3	HGNC	F5H0M4_HUMAN	.	UPI0000034DFC	SNV	LPCAT3,missense_variant,p.Arg43Gly,ENST00000261407,;C1S,intron_variant,,ENST00000406697,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000536971,;LPCAT3,missense_variant,p.Arg43Gly,ENST00000538910,;LPCAT3,missense_variant,p.Arg43Gly,ENST00000540090,;LPCAT3,missense_variant,p.Arg43Gly,ENST00000535479,;LPCAT3,missense_variant,p.Arg43Gly,ENST00000543794,;LPCAT3,missense_variant,p.Arg43Gly,ENST00000536797,;	213	74	70	SUCCESS
APAF1	317	.	GRCh37	12	99121087	99121087	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1271853699	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	44	0	ENST00000551964.1:c.3593A>G	p.Tyr1198Cys	p.Y1198C	ENST00000551964	NM_181861.1	1198	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS9069.1	3593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATATATTA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037646,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000448165	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000551964	Transcript	.	.	ENSG00000120868	576	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.848)	.	tolerated(0.05)	.	APAF_HUMAN	APAF1	HGNC	.	.	UPI0000036328	SNV	APAF1,missense_variant,p.Tyr1155Cys,ENST00000357310,;APAF1,missense_variant,p.Tyr1187Cys,ENST00000550527,;APAF1,missense_variant,p.Tyr1113Cys,ENST00000339433,;APAF1,missense_variant,p.Tyr1155Cys,ENST00000547045,;APAF1,missense_variant,p.Tyr1144Cys,ENST00000359972,;APAF1,missense_variant,p.Tyr1113Cys,ENST00000549007,;APAF1,missense_variant,p.Tyr1198Cys,ENST00000551964,;APAF1,intron_variant,,ENST00000552268,;APAF1,intron_variant,,ENST00000333991,;APAF1,non_coding_transcript_exon_variant,,ENST00000552929,;ANKS1B,intron_variant,,ENST00000555119,;	4329	44	30	SUCCESS
TRPC4	7223	.	GRCh37	13	38320590	38320590	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs779900575	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	22	42	0	ENST00000379705.3:c.381G>A		p.X127_splice	ENST00000379705		127	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS45037.1	381	RADIA|SOMATICSNIPER|VARSCANS	.	GGAGGCACCTA	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Superfamily_domains:SSF48403	.	.	ENSP00000369003	.	3/11	.	.	.	.	.	.	.	.	rs779900575	3/11	PASS	ENST00000379681	Transcript	.	.	ENSG00000133107	12336	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRPC4_HUMAN	TRPC4	HGNC	.	.	UPI000006E5BE	SNV	TRPC4,synonymous_variant,p.%3D,ENST00000379673,;TRPC4,synonymous_variant,p.%3D,ENST00000379681,;TRPC4,synonymous_variant,p.%3D,ENST00000447043,;TRPC4,synonymous_variant,p.%3D,ENST00000355779,;TRPC4,synonymous_variant,p.%3D,ENST00000358477,;TRPC4,synonymous_variant,p.%3D,ENST00000426868,;TRPC4,synonymous_variant,p.%3D,ENST00000379705,;TRPC4,intron_variant,,ENST00000338947,;TRPC4,intron_variant,,ENST00000379679,;TRPC4,synonymous_variant,p.%3D,ENST00000488717,;	616	42	32	SUCCESS
TBC1D4	9882	.	GRCh37	13	76055872	76055872	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	45	90	0	ENST00000377636.3:c.32C>G	p.Pro11Arg	p.P11R	ENST00000377636	NM_014832.2	11	cCg/cGg	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS41901.1	32	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACGGCTCA	NONE	.	.	.	.	.	ENSP00000366863	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000377636	Transcript	.	.	ENSG00000136111	19165	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated_low_confidence(0.28)	.	TBCD4_HUMAN	TBC1D4	HGNC	.	.	UPI00001AE7B3	SNV	TBC1D4,missense_variant,p.Pro11Arg,ENST00000377625,;TBC1D4,missense_variant,p.Pro11Arg,ENST00000431480,;TBC1D4,missense_variant,p.Pro11Arg,ENST00000377636,;TBC1D4,5_prime_UTR_variant,,ENST00000425511,;	379	90	54	SUCCESS
GPC6	10082	.	GRCh37	13	95055461	95055461	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	31	28	0	ENST00000377047.4:c.1658T>A	p.Leu553Gln	p.L553Q	ENST00000377047	NM_005708.3	553	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS9469.1	1658	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGACTGTGCA	NONE	.	.	hmmpanther:PTHR10822:SF26,hmmpanther:PTHR10822,Pfam_domain:PF01153	.	.	ENSP00000366246	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000377047	Transcript	.	.	ENSG00000183098	4454	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated_low_confidence(0.56)	.	GPC6_HUMAN	GPC6	HGNC	.	.	UPI0000032F5B	SNV	GPC6,missense_variant,p.Leu553Gln,ENST00000377047,;	2273	28	34	SUCCESS
HSP90AA1	3320	.	GRCh37	14	102552710	102552710	+	synonymous_variant	Silent	SNP	A	A	T	rs766493249	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	26	116	0	ENST00000216281.8:c.6T>A	p.Pro2=	p.P2=	ENST00000216281	NM_005348.3	2	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS32160.1	372	RADIA|MUTECT|MUSE	.	TCCTCAGGCAT	NONE	.	.	hmmpanther:PTHR11528	.	.	ENSP00000335153	.	3/12	.	.	.	.	.	.	.	.	rs766493249	3/12	PASS	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	SNV	HSP90AA1,synonymous_variant,p.%3D,ENST00000334701,;HSP90AA1,synonymous_variant,p.%3D,ENST00000553585,;HSP90AA1,synonymous_variant,p.%3D,ENST00000216281,;HSP90AA1,upstream_gene_variant,,ENST00000441629,;HSP90AA1,missense_variant,p.Leu54Gln,ENST00000557234,;HSP90AA1,non_coding_transcript_exon_variant,,ENST00000556554,;HSP90AA1,upstream_gene_variant,,ENST00000554401,;HSP90AA1,upstream_gene_variant,,ENST00000555662,;HSP90AA1,upstream_gene_variant,,ENST00000560130,;HSP90AA1,upstream_gene_variant,,ENST00000557089,;	654	116	86	SUCCESS
INF2	64423	.	GRCh37	14	105180840	105180840	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	47	0	ENST00000392634.4:c.3341T>A	p.Leu1114His	p.L1114H	ENST00000392634	NM_022489.3	1114	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS9989.2	3341	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCCTCAAGT	NONE	.	.	hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213	.	.	ENSP00000376410	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000392634	Transcript	1	.	ENSG00000203485	23791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	INF2_HUMAN	INF2	HGNC	.	.	UPI000156D0FB	SNV	INF2,missense_variant,p.Leu582His,ENST00000252527,;INF2,missense_variant,p.Leu1114His,ENST00000330634,;INF2,missense_variant,p.Leu1114His,ENST00000392634,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,downstream_gene_variant,,ENST00000474229,;INF2,downstream_gene_variant,,ENST00000477497,;INF2,downstream_gene_variant,,ENST00000480763,;	3453	47	72	SUCCESS
ARHGEF40	55701	.	GRCh37	14	21555482	21555482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	24	39	0	ENST00000298694.4:c.4247C>T	p.Ala1416Val	p.A1416V	ENST00000298694	NM_001278529.1	1416	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS32041.1	4247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGCCCGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	.	.	ENSP00000298694	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000298694	Transcript	.	.	ENSG00000165801	25516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.838)	.	deleterious(0)	.	ARH40_HUMAN	ARHGEF40	HGNC	.	.	UPI00001FCFB7	SNV	ARHGEF40,missense_variant,p.Ala1416Val,ENST00000298694,;ARHGEF40,intron_variant,,ENST00000298693,;ZNF219,downstream_gene_variant,,ENST00000360947,;ZNF219,downstream_gene_variant,,ENST00000451119,;ZNF219,downstream_gene_variant,,ENST00000421093,;RP11-998D10.7,upstream_gene_variant,,ENST00000554733,;ARHGEF40,3_prime_UTR_variant,,ENST00000553709,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000554514,;ARHGEF40,intron_variant,,ENST00000556399,;ARHGEF40,upstream_gene_variant,,ENST00000557498,;ARHGEF40,downstream_gene_variant,,ENST00000555232,;	4374	39	66	SUCCESS
PRMT5	10419	.	GRCh37	14	23398484	23398484	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	34	0	ENST00000324366.8:c.87A>T	p.Thr29=	p.T29=	ENST00000324366	NM_006109.3	29	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS9579.1	87	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTAGTGTGTC	NONE	.	.	PIRSF_domain:PIRSF015894,hmmpanther:PTHR10738	.	.	ENSP00000319169	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000324366	Transcript	.	.	ENSG00000100462	10894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANM5_HUMAN	PRMT5	HGNC	G3V5T6_HUMAN,G3V5L5_HUMAN,B4DV00_HUMAN	.	UPI000006F09F	SNV	PRMT5,synonymous_variant,p.%3D,ENST00000421938,;PRMT5,synonymous_variant,p.%3D,ENST00000324366,;PRMT5,synonymous_variant,p.%3D,ENST00000556616,;PRMT5,synonymous_variant,p.%3D,ENST00000553550,;PRMT5,synonymous_variant,p.%3D,ENST00000554867,;PRMT5,synonymous_variant,p.%3D,ENST00000553897,;PRMT5,5_prime_UTR_variant,,ENST00000538452,;PRMT5,5_prime_UTR_variant,,ENST00000216350,;PRMT5,5_prime_UTR_variant,,ENST00000397440,;PRMT5,5_prime_UTR_variant,,ENST00000397441,;PRMT5,upstream_gene_variant,,ENST00000555530,;PRMT5,upstream_gene_variant,,ENST00000554910,;PRMT5,upstream_gene_variant,,ENST00000553502,;PRMT5,upstream_gene_variant,,ENST00000556043,;PRMT5-AS1,downstream_gene_variant,,ENST00000599580,;RP11-298I3.1,upstream_gene_variant,,ENST00000548322,;PRMT5-AS1,downstream_gene_variant,,ENST00000587245,;PRMT5-AS1,downstream_gene_variant,,ENST00000595662,;RP11-298I3.1,upstream_gene_variant,,ENST00000548819,;PRMT5-AS1,downstream_gene_variant,,ENST00000590290,;PRMT5,non_coding_transcript_exon_variant,,ENST00000554716,;PRMT5,non_coding_transcript_exon_variant,,ENST00000553641,;PRMT5,non_coding_transcript_exon_variant,,ENST00000556426,;PRMT5,synonymous_variant,p.%3D,ENST00000557415,;PRMT5,synonymous_variant,p.%3D,ENST00000553787,;PRMT5,5_prime_UTR_variant,,ENST00000553915,;PRMT5,non_coding_transcript_exon_variant,,ENST00000557015,;PRMT5,intron_variant,,ENST00000556032,;PRMT5,upstream_gene_variant,,ENST00000553417,;	311	34	42	SUCCESS
DCAF11	80344	.	GRCh37	14	24590150	24590150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	81	106	0	ENST00000446197.3:c.1196C>A	p.Ala399Asp	p.A399D	ENST00000446197	NM_025230.4	399	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS9610.1	1196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCTGCCA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR19847,PIRSF_domain:PIRSF038135	.	.	ENSP00000415556	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000446197	Transcript	.	.	ENSG00000100897	20258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.749)	.	deleterious(0.01)	.	DCA11_HUMAN	DCAF11	HGNC	H0YNS2_HUMAN,H0YNK2_HUMAN,H0YMZ4_HUMAN,H0YM56_HUMAN,H0YLQ1_HUMAN,H0YL64_HUMAN,H0YKR8_HUMAN	.	UPI0000073AB2	SNV	DCAF11,missense_variant,p.Ala299Asp,ENST00000396936,;DCAF11,missense_variant,p.Ala139Asp,ENST00000559144,;DCAF11,missense_variant,p.Ala399Asp,ENST00000559115,;DCAF11,missense_variant,p.Ala373Asp,ENST00000396941,;DCAF11,missense_variant,p.Ala399Asp,ENST00000446197,;DCAF11,downstream_gene_variant,,ENST00000559354,;DCAF11,downstream_gene_variant,,ENST00000560713,;DCAF11,downstream_gene_variant,,ENST00000559593,;DCAF11,downstream_gene_variant,,ENST00000558215,;DCAF11,downstream_gene_variant,,ENST00000560901,;DCAF11,downstream_gene_variant,,ENST00000561001,;DCAF11,downstream_gene_variant,,ENST00000560459,;DCAF11,downstream_gene_variant,,ENST00000559796,;DCAF11,downstream_gene_variant,,ENST00000561375,;DCAF11,downstream_gene_variant,,ENST00000561041,;DCAF11,downstream_gene_variant,,ENST00000558638,;RP11-468E2.6,upstream_gene_variant,,ENST00000558325,;DCAF11,downstream_gene_variant,,ENST00000559017,;DCAF11,downstream_gene_variant,,ENST00000559288,;DCAF11,downstream_gene_variant,,ENST00000559382,;DCAF11,downstream_gene_variant,,ENST00000558408,;DCAF11,downstream_gene_variant,,ENST00000557810,;DCAF11,downstream_gene_variant,,ENST00000557809,;DCAF11,downstream_gene_variant,,ENST00000560171,;DCAF11,downstream_gene_variant,,ENST00000561016,;DCAF11,downstream_gene_variant,,ENST00000557952,;DCAF11,downstream_gene_variant,,ENST00000561056,;DCAF11,3_prime_UTR_variant,,ENST00000326009,;DCAF11,3_prime_UTR_variant,,ENST00000558914,;DCAF11,3_prime_UTR_variant,,ENST00000557802,;DCAF11,non_coding_transcript_exon_variant,,ENST00000558624,;DCAF11,downstream_gene_variant,,ENST00000558706,;DCAF11,downstream_gene_variant,,ENST00000560046,;DCAF11,downstream_gene_variant,,ENST00000559451,;DCAF11,upstream_gene_variant,,ENST00000559472,;DCAF11,downstream_gene_variant,,ENST00000560457,;DCAF11,downstream_gene_variant,,ENST00000557888,;DCAF11,downstream_gene_variant,,ENST00000560614,;	1923	106	151	SUCCESS
GNPNAT1	64841	.	GRCh37	14	53251349	53251349	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	28	83	0	ENST00000216410.3:c.20del	p.Pro7LeufsTer35	p.P7Lfs*35	ENST00000216410	NM_198066.3	7	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS9712.1	20	INDELOCATOR*|VARSCANI*|PINDEL	.	AACATAGGAGTT	NONE	.	.	hmmpanther:PTHR13355	.	.	ENSP00000216410	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000216410	Transcript	.	.	ENSG00000100522	19980	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GNA1_HUMAN	GNPNAT1	HGNC	G3V5E4_HUMAN,G3V4W4_HUMAN	.	UPI000003B007	deletion	GNPNAT1,frameshift_variant,p.Pro7LeufsTer35,ENST00000557604,;GNPNAT1,frameshift_variant,p.Pro7LeufsTer35,ENST00000216410,;GNPNAT1,intron_variant,,ENST00000554230,;RN7SL588P,upstream_gene_variant,,ENST00000583393,;GNPNAT1,upstream_gene_variant,,ENST00000553987,;	208	83	108	SUCCESS
RTN1	6252	.	GRCh37	14	60212828	60212828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	101	0	ENST00000267484.5:c.613G>T	p.Val205Leu	p.V205L	ENST00000267484	NM_021136.2	205	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS9740.1	613	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCACCTCCT	NONE	.	.	hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994	.	.	ENSP00000267484	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.22)	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,missense_variant,p.Val205Leu,ENST00000267484,;	949	101	87	SUCCESS
PCNX	0	.	GRCh37	14	71524347	71524347	+	synonymous_variant	Silent	SNP	C	C	T	rs756215813	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	86	0	ENST00000304743.2:c.4758C>T	p.Phe1586=	p.F1586=	ENST00000304743	NM_014982.2	1586	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS9806.1	4758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCATCCT	NONE	.	.	hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372	.	.	ENSP00000304192	.	26/36	.	.	.	.	.	.	.	.	rs756215813	26/36	PASS	ENST00000304743	Transcript	.	.	ENSG00000100731	19740	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCX1_HUMAN	PCNX	HGNC	Q05BT4_HUMAN	.	UPI000013E9BB	SNV	PCNX,synonymous_variant,p.%3D,ENST00000439984,;PCNX,synonymous_variant,p.%3D,ENST00000304743,;PCNX,intron_variant,,ENST00000554691,;PCNX,intron_variant,,ENST00000238570,;PCNX,intron_variant,,ENST00000556849,;PCNX,non_coding_transcript_exon_variant,,ENST00000556516,;	5204	86	68	SUCCESS
NEK9	91754	.	GRCh37	14	75593444	75593444	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	79	152	0	ENST00000238616.5:c.181G>T	p.Gly61Cys	p.G61C	ENST00000238616	NM_033116.4	61	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS9839.1	181	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCCGCGGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000238616	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000238616	Transcript	.	.	ENSG00000119638	18591	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NEK9_HUMAN	NEK9	HGNC	G3V5V0_HUMAN,G3V2Z5_HUMAN	.	UPI00001FD89B	SNV	NEK9,missense_variant,p.Gly61Cys,ENST00000238616,;NEK9,intron_variant,,ENST00000553823,;NEK9,intron_variant,,ENST00000557673,;TMED10,downstream_gene_variant,,ENST00000303575,;RP11-950C14.7,upstream_gene_variant,,ENST00000556236,;NEK9,missense_variant,p.Gly61Cys,ENST00000554258,;NEK9,5_prime_UTR_variant,,ENST00000553945,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;	340	152	171	SUCCESS
NIPA1	123606	.	GRCh37	15	23049159	23049159	+	synonymous_variant	Silent	SNP	G	G	A	rs780423343	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	89	0	ENST00000337435.4:c.660C>T	p.Asn220=	p.N220=	ENST00000337435	NM_144599.4	220	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS10011.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGGTTGTT	NONE	.	.	hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF17,Pfam_domain:PF05653	.	.	ENSP00000337452	.	5/5	.	.	.	.	.	.	.	.	rs780423343	5/5	PASS	ENST00000337435	Transcript	1	.	ENSG00000170113	17043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPA1_HUMAN	NIPA1	HGNC	Q3SYP4_HUMAN	.	UPI00001D9756	SNV	NIPA1,synonymous_variant,p.%3D,ENST00000538684,;NIPA1,synonymous_variant,p.%3D,ENST00000561183,;NIPA1,synonymous_variant,p.%3D,ENST00000337435,;NIPA1,synonymous_variant,p.%3D,ENST00000437912,;NIPA1,3_prime_UTR_variant,,ENST00000559448,;NIPA1,3_prime_UTR_variant,,ENST00000557930,;NIPA1,downstream_gene_variant,,ENST00000560069,;	685	89	67	SUCCESS
AQR	9716	.	GRCh37	15	35196558	35196558	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	39	63	0	ENST00000156471.5:c.1980A>G	p.Lys660=	p.K660=	ENST00000156471	NM_014691.2	660	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS42013.1	1980	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTTTTCT	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901	.	.	ENSP00000156471	.	19/35	.	.	.	.	.	.	.	.	.	19/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	SNV	AQR,synonymous_variant,p.%3D,ENST00000156471,;AQR,3_prime_UTR_variant,,ENST00000543879,;	2206	63	91	SUCCESS
DUT	1854	.	GRCh37	15	48633802	48633802	+	intron_variant	Intron	SNP	A	A	T	rs375942854	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	74	145	0	ENST00000331200.3:c.702+20A>T		p.*234*	ENST00000331200	NM_001025248.1			0	T:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS32231.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGATACAG	NONE	byFrequency|byCluster	.	.	.	T:0	ENSP00000370376	.	.	.	.	.	.	.	.	.	.	rs375942854	.	PASS	ENST00000331200	Transcript	.	.	ENSG00000128951	3078	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUT_HUMAN	DUT	HGNC	.	.	UPI000035ECE0	SNV	DUT,3_prime_UTR_variant,,ENST00000559540,;DUT,intron_variant,,ENST00000558813,;DUT,intron_variant,,ENST00000455976,;DUT,intron_variant,,ENST00000331200,;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000558367,;DUT,downstream_gene_variant,,ENST00000559935,;DUT,downstream_gene_variant,,ENST00000561350,;DUT,intron_variant,,ENST00000559852,;DUT,intron_variant,,ENST00000558978,;	.	145	142	SUCCESS
MYO1E	4643	.	GRCh37	15	59480390	59480390	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	42	0	ENST00000288235.4:c.1831G>A	p.Gly611Ser	p.G611S	ENST00000288235	NM_004998.3	611	Ggt/Agt	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS32254.1	1831	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCCAAAT	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000288235	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000288235	Transcript	1	.	ENSG00000157483	7599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	MYO1E_HUMAN	MYO1E	HGNC	Q4KMR3_HUMAN	.	UPI00001FE590	SNV	MYO1E,missense_variant,p.Gly611Ser,ENST00000288235,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,intron_variant,,ENST00000560749,;MYO1E,non_coding_transcript_exon_variant,,ENST00000558182,;	2231	42	42	SUCCESS
SEMA7A	8482	.	GRCh37	15	74704300	74704300	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758202912	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	51	0	ENST00000261918.4:c.1348G>A	p.Ala450Thr	p.A450T	ENST00000261918	NM_003612.3	450	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10262.1	1348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCGAAGC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000261918	.	11/14	.	.	.	.	.	.	.	.	rs758202912	11/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.152)	.	tolerated(0.22)	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,missense_variant,p.Ala450Thr,ENST00000261918,;SEMA7A,missense_variant,p.Ala285Thr,ENST00000542748,;SEMA7A,missense_variant,p.Ala436Thr,ENST00000543145,;SEMA7A,downstream_gene_variant,,ENST00000567345,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	1897	51	72	SUCCESS
ZNF774	342132	.	GRCh37	15	90903908	90903908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	79	0	ENST00000354377.3:c.845A>G	p.Gln282Arg	p.Q282R	ENST00000354377	NM_001004309.2	282	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS32330.1	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCAGAGGA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF66,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000346348	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354377	Transcript	.	.	ENSG00000196391	33108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.87)	.	tolerated(0.11)	.	ZN774_HUMAN	ZNF774	HGNC	H0YNW6_HUMAN	.	UPI00001A73D8	SNV	ZNF774,missense_variant,p.Gln282Arg,ENST00000354377,;ZNF774,intron_variant,,ENST00000379090,;ZNF774,downstream_gene_variant,,ENST00000558586,;ZNF774,downstream_gene_variant,,ENST00000558115,;ZNF774,downstream_gene_variant,,ENST00000560038,;	1031	79	58	SUCCESS
SHISA9	729993	.	GRCh37	16	12996468	12996468	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	33	0	ENST00000558583.1:c.670A>T	p.Arg224Trp	p.R224W	ENST00000558583	NM_001145204.2	224	Agg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS45417.2	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAAGGGAG	NONE	.	.	hmmpanther:PTHR31774:SF3,hmmpanther:PTHR31774,Pfam_domain:PF13908	.	.	ENSP00000407958	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000424107	Transcript	.	.	ENSG00000237515	37231	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	SHSA9_HUMAN	SHISA9	HGNC	.	.	UPI0001CE6F1C	SNV	SHISA9,missense_variant,p.Arg224Trp,ENST00000558583,;SHISA9,missense_variant,p.Arg224Trp,ENST00000558318,;SHISA9,missense_variant,p.Arg183Trp,ENST00000423335,;SHISA9,missense_variant,p.Arg183Trp,ENST00000424107,;SHISA9,upstream_gene_variant,,ENST00000482916,;	992	33	53	SUCCESS
ABCC11	85320	.	GRCh37	16	48232119	48232119	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	52	127	0	ENST00000356608.2:c.2150G>A	p.Ser717Asn	p.S717N	ENST00000356608		717	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS10732.1	2150	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACTGTGA	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF168,hmmpanther:PTHR24223,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378230	.	15/29	.	.	.	.	.	.	.	.	COSM3957606	15/29	PASS	ENST00000394747	Transcript	.	.	ENSG00000121270	14639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.005)	.	tolerated(0.36)	1	ABCCB_HUMAN	ABCC11	HGNC	H3BRJ2_HUMAN	.	UPI0000052711	SNV	ABCC11,missense_variant,p.Ser717Asn,ENST00000394747,;ABCC11,missense_variant,p.Ser717Asn,ENST00000394748,;ABCC11,missense_variant,p.Ser717Asn,ENST00000537808,;ABCC11,missense_variant,p.Ser717Asn,ENST00000353782,;ABCC11,missense_variant,p.Ser717Asn,ENST00000356608,;ABCC11,non_coding_transcript_exon_variant,,ENST00000569172,;	2500	127	117	SUCCESS
NFAT5	10725	.	GRCh37	16	69727754	69727754	+	synonymous_variant	Silent	SNP	C	C	T	rs760113102	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	53	121	0	ENST00000354436.2:c.3972C>T	p.Pro1324=	p.P1324=	ENST00000354436	NM_006599.3	1324	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS45518.1	4026	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCATGCA	NONE	.	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF7,Low_complexity_(Seg):seg	.	.	ENSP00000396538	.	13/15	.	.	.	.	.	.	.	.	rs760113102,COSM460479,COSM460478	13/15	PASS	ENST00000432919	Transcript	.	.	ENSG00000102908	7774	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	NFAT5_HUMAN	NFAT5	HGNC	.	.	UPI000049DE1B	SNV	NFAT5,synonymous_variant,p.%3D,ENST00000567239,;NFAT5,synonymous_variant,p.%3D,ENST00000432919,;NFAT5,synonymous_variant,p.%3D,ENST00000354436,;NFAT5,synonymous_variant,p.%3D,ENST00000349945,;NFAT5,synonymous_variant,p.%3D,ENST00000393742,;NFAT5,synonymous_variant,p.%3D,ENST00000566899,;NFAT5,intron_variant,,ENST00000565301,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,downstream_gene_variant,,ENST00000568832,;NFAT5,downstream_gene_variant,,ENST00000562429,;	5234	121	67	SUCCESS
ZCCHC14	23174	.	GRCh37	16	87451264	87451264	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	66	0	ENST00000268616.4:c.774del	p.Leu259CysfsTer44	p.L259Cfs*44	ENST00000268616	NM_015144.2	258	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS10961.1	774	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCAAGGGGGC	NONE	.	.	hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195	.	.	ENSP00000268616	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000268616	Transcript	.	.	ENSG00000140948	24134	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZCH14_HUMAN	ZCCHC14	HGNC	.	.	UPI00000705C4	deletion	ZCCHC14,frameshift_variant,p.Leu259CysfsTer44,ENST00000268616,;ZCCHC14,frameshift_variant,p.Leu143CysfsTer44,ENST00000561928,;ZCCHC14,frameshift_variant,p.Leu259CysfsTer44,ENST00000568020,;ZCCHC14,non_coding_transcript_exon_variant,,ENST00000565193,;	992	66	97	SUCCESS
CDH15	1013	.	GRCh37	16	89260206	89260206	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	47	0	ENST00000289746.2:c.2036del	p.Ser679ThrfsTer71	p.S679Tfs*71	ENST00000289746	NM_004933.2	679	aGc/ac	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS10976.1	2036	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCTGAGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67	.	.	ENSP00000289746	.	13/14	.	.	.	.	.	.	.	.	COSM4063558	13/14	PASS	ENST00000289746	Transcript	.	.	ENSG00000129910	1754	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	CAD15_HUMAN	CDH15	HGNC	.	.	UPI0000126DAF	deletion	CDH15,frameshift_variant,p.Ser679ThrfsTer71,ENST00000289746,;SLC22A31,downstream_gene_variant,,ENST00000562855,;SLC22A31,downstream_gene_variant,,ENST00000562916,;SLC22A31,downstream_gene_variant,,ENST00000563595,;	2101	47	52	SUCCESS
SHISA6	388336	.	GRCh37	17	11461182	11461182	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	54	108	0	ENST00000409168.3:c.1064C>A	p.Pro355Gln	p.P355Q	ENST00000409168	NM_001173461.1	355	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS45615.1	1217	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCAAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0	.	.	ENSP00000390084	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000441885	Transcript	.	.	ENSG00000188803	34491	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.45)	.	SHSA6_HUMAN	SHISA6	HGNC	.	.	UPI000183CBD8	SNV	SHISA6,missense_variant,p.Pro387Gln,ENST00000432116,;SHISA6,missense_variant,p.Pro355Gln,ENST00000409168,;SHISA6,missense_variant,p.Pro406Gln,ENST00000441885,;	1377	109	64	SUCCESS
C17orf66	0	.	GRCh37	17	34183788	34183788	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	27	0	ENST00000311880.2:c.1174C>T	p.Gln392Ter	p.Q392*	ENST00000311880	NM_152781.2	392	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS11299.1	1174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTGAGCCA	NONE	.	.	hmmpanther:PTHR12697,Pfam_domain:PF13646,Superfamily_domains:SSF48371	.	.	ENSP00000309560	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000311880	Transcript	.	.	ENSG00000172653	26548	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ066_HUMAN	C17orf66	HGNC	.	.	UPI000013F215	SNV	C17orf66,stop_gained,p.Gln392Ter,ENST00000311880,;C17orf66,stop_gained,p.Gln352Ter,ENST00000592980,;TAF15,intron_variant,,ENST00000586593,;C17orf66,stop_gained,p.Gln358Ter,ENST00000589015,;C17orf66,stop_gained,p.Gln318Ter,ENST00000587573,;C17orf66,3_prime_UTR_variant,,ENST00000585840,;C17orf66,non_coding_transcript_exon_variant,,ENST00000462028,;AC015849.14,downstream_gene_variant,,ENST00000589274,;	1323	27	37	SUCCESS
PIGW	284098	.	GRCh37	17	34893593	34893593	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs886794381	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	50	125	0	ENST00000592983.1:c.643G>A	p.Gly215Arg	p.G215R	ENST00000592983		215	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS11313.1	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCGGACGA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR20661,PIRSF_domain:PIRSF017321	.	.	ENSP00000468778	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000592983	Transcript	.	.	ENSG00000184886	23213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	deleterious(0)	.	PIGW_HUMAN	PIGW	HGNC	C9JLC8_HUMAN	.	UPI00001984EA	SNV	PIGW,missense_variant,p.Gly215Arg,ENST00000328396,;PIGW,missense_variant,p.Gly215Arg,ENST00000592983,;PIGW,missense_variant,p.Gly215Arg,ENST00000429467,;MYO19,upstream_gene_variant,,ENST00000585818,;MYO19,upstream_gene_variant,,ENST00000544606,;MYO19,upstream_gene_variant,,ENST00000268852,;MYO19,upstream_gene_variant,,ENST00000431794,;MYO19,upstream_gene_variant,,ENST00000586007,;MYO19,upstream_gene_variant,,ENST00000585719,;MYO19,upstream_gene_variant,,ENST00000589404,;MYO19,upstream_gene_variant,,ENST00000586886,;MYO19,intron_variant,,ENST00000586879,;MYO19,intron_variant,,ENST00000590081,;MYO19,upstream_gene_variant,,ENST00000592380,;MYO19,upstream_gene_variant,,ENST00000588664,;MYO19,upstream_gene_variant,,ENST00000591794,;MYO19,upstream_gene_variant,,ENST00000586908,;	1223	125	176	SUCCESS
SYNRG	11276	.	GRCh37	17	35945538	35945538	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	30	0	ENST00000339208.6:c.372G>A		p.X124_splice	ENST00000339208	NM_001163544.1	124	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS11321.1	372	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTTCCTGAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15463	.	.	ENSP00000343610	.	5/22	.	.	.	.	.	.	.	.	.	5/22	PASS	ENST00000339208	Transcript	.	.	ENSG00000006114	557	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNRG_HUMAN	SYNRG	HGNC	.	.	UPI000013C4EA	SNV	SYNRG,synonymous_variant,p.%3D,ENST00000394378,;SYNRG,synonymous_variant,p.%3D,ENST00000502449,;SYNRG,synonymous_variant,p.%3D,ENST00000591288,;SYNRG,synonymous_variant,p.%3D,ENST00000339208,;SYNRG,synonymous_variant,p.%3D,ENST00000345615,;SYNRG,synonymous_variant,p.%3D,ENST00000585689,;SYNRG,synonymous_variant,p.%3D,ENST00000585472,;SYNRG,synonymous_variant,p.%3D,ENST00000346661,;SYNRG,upstream_gene_variant,,ENST00000427923,;SYNRG,splice_region_variant,,ENST00000394379,;SYNRG,splice_region_variant,,ENST00000378189,;	513	30	38	SUCCESS
ATP6V0A1	535	.	GRCh37	17	40620123	40620123	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs370052932	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	190	224	0	ENST00000343619.4:c.292G>A	p.Glu98Lys	p.E98K	ENST00000343619	NM_001130021.1	98	Gag/Aag	0	.	A:0	.	A:0	.	A	E/K	protein_coding	YES	CCDS45683.1	292	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTAGAGGTA	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11629:SF25,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	A:0.001	.	ENSP00000264649	A:0	4/21	.	.	.	.	.	.	.	.	rs370052932	4/21	PASS	ENST00000264649	Transcript	.	A:0.0002	ENSG00000033627	865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	A:0	deleterious(0.01)	.	VPP1_HUMAN	ATP6V0A1	HGNC	K7EM24_HUMAN,K7ELZ6_HUMAN	.	UPI0000E59F9E	SNV	ATP6V0A1,missense_variant,p.Glu24Lys,ENST00000592324,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000585525,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000393829,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000343619,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000546249,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000537728,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000587824,;ATP6V0A1,missense_variant,p.Glu98Lys,ENST00000264649,;ATP6V0A1,intron_variant,,ENST00000589727,;ATP6V0A1,intron_variant,,ENST00000544137,;ATP6V0A1,downstream_gene_variant,,ENST00000589213,;ATP6V0A1,splice_region_variant,,ENST00000588629,;ATP6V0A1,intron_variant,,ENST00000588901,;ATP6V0A1,upstream_gene_variant,,ENST00000587375,;	423	224	293	SUCCESS
EFTUD2	9343	.	GRCh37	17	42937333	42937333	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	52	124	0	ENST00000426333.2:c.1800G>A	p.Leu600=	p.L600=	ENST00000426333	NM_001142605.1	600	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11489.1	1800	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGCAGCTC	BUFFER|p.M603T|c.1808T>C|3	.	.	hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF5,Pfam_domain:PF14492,Gene3D:3.30.70.870,Superfamily_domains:SSF54980	.	.	ENSP00000392094	.	18/28	.	.	.	.	.	.	.	.	.	18/28	PASS	ENST00000426333	Transcript	.	.	ENSG00000108883	30858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	U5S1_HUMAN	EFTUD2	HGNC	K7EIV5_HUMAN,K7EIT3_HUMAN,B3KX19_HUMAN	.	UPI0000137931	SNV	EFTUD2,synonymous_variant,p.%3D,ENST00000402521,;EFTUD2,synonymous_variant,p.%3D,ENST00000591382,;EFTUD2,synonymous_variant,p.%3D,ENST00000426333,;EFTUD2,synonymous_variant,p.%3D,ENST00000592576,;EFTUD2,upstream_gene_variant,,ENST00000590124,;EFTUD2,downstream_gene_variant,,ENST00000585616,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000586276,;EFTUD2,downstream_gene_variant,,ENST00000585794,;EFTUD2,upstream_gene_variant,,ENST00000590977,;EFTUD2,downstream_gene_variant,,ENST00000587914,;EFTUD2,downstream_gene_variant,,ENST00000586654,;EFTUD2,upstream_gene_variant,,ENST00000588340,;	2098	124	161	SUCCESS
PNPO	55163	.	GRCh37	17	46023698	46023698	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	83	0	ENST00000225573.4:c.556A>C	p.Lys186Gln	p.K186Q	ENST00000225573	NM_018129.3	186	Aag/Cag	0	.	.	.	.	.	C	K/Q	protein_coding	YES	CCDS11522.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAAAGAAA	NONE	.	.	HAMAP:MF_01629,hmmpanther:PTHR10851,hmmpanther:PTHR10851:SF1,TIGRFAM_domain:TIGR00558,Gene3D:2.30.110.10,PIRSF_domain:PIRSF000190,Superfamily_domains:SSF50475	.	.	ENSP00000225573	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000225573	Transcript	.	.	ENSG00000108439	30260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.38)	.	PNPO_HUMAN	PNPO	HGNC	J3QQZ9_HUMAN,J3QQV6_HUMAN,B4E0V0_HUMAN	.	UPI000004A13F	SNV	PNPO,missense_variant,p.Lys143Gln,ENST00000434554,;PNPO,missense_variant,p.Lys106Gln,ENST00000583599,;PNPO,missense_variant,p.Lys168Gln,ENST00000544840,;PNPO,missense_variant,p.Lys186Gln,ENST00000225573,;PNPO,missense_variant,p.Lys91Gln,ENST00000534893,;AC003665.1,upstream_gene_variant,,ENST00000433001,;AC003665.1,upstream_gene_variant,,ENST00000451140,;AC003665.1,upstream_gene_variant,,ENST00000411573,;RP11-6N17.6,downstream_gene_variant,,ENST00000582142,;RP11-6N17.6,downstream_gene_variant,,ENST00000580372,;AC003665.1,upstream_gene_variant,,ENST00000585280,;RP11-6N17.9,non_coding_transcript_exon_variant,,ENST00000582262,;PNPO,3_prime_UTR_variant,,ENST00000585320,;PNPO,3_prime_UTR_variant,,ENST00000582171,;PNPO,non_coding_transcript_exon_variant,,ENST00000584806,;PNPO,downstream_gene_variant,,ENST00000583245,;PNPO,downstream_gene_variant,,ENST00000584061,;	661	83	105	SUCCESS
HOXB5	3215	.	GRCh37	17	46670490	46670490	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	71	43	0	ENST00000239151.5:c.555C>T	p.Ile185=	p.I185=	ENST00000239151	NM_002147.3	185	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11530.1	555	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTGATGTG	NONE	.	.	hmmpanther:PTHR24326:SF165,hmmpanther:PTHR24326,Superfamily_domains:SSF46689	.	.	ENSP00000239151	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000239151	Transcript	.	.	ENSG00000120075	5116	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXB5_HUMAN	HOXB5	HGNC	.	.	UPI000012CF58	SNV	HOXB5,synonymous_variant,p.%3D,ENST00000239151,;HOXB6,downstream_gene_variant,,ENST00000225648,;HOXB3,upstream_gene_variant,,ENST00000476342,;HOXB6,downstream_gene_variant,,ENST00000484302,;HOXB3,upstream_gene_variant,,ENST00000460160,;HOXB3,upstream_gene_variant,,ENST00000498678,;HOXB3,upstream_gene_variant,,ENST00000472863,;HOXB-AS3,intron_variant,,ENST00000487849,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,intron_variant,,ENST00000429755,;HOXB-AS3,intron_variant,,ENST00000492897,;HOXB-AS3,upstream_gene_variant,,ENST00000481995,;HOXB-AS3,upstream_gene_variant,,ENST00000466037,;HOXB-AS3,upstream_gene_variant,,ENST00000460041,;HOXB-AS3,upstream_gene_variant,,ENST00000477144,;HOXB-AS3,upstream_gene_variant,,ENST00000474324,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000470193,;	834	43	112	SUCCESS
ITGA3	3675	.	GRCh37	17	48148229	48148229	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140829923	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	145	55	117	0	ENST00000320031.8:c.686G>A	p.Arg229His	p.R229H	ENST00000320031	NM_002204.2	229	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS11557.1	686	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCAAGG	NONE	byCluster	.	Superfamily_domains:SSF69318,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,PROSITE_profiles:PS51470	.	A:0.0001	ENSP00000007722	.	5/25	.	.	.	.	.	.	.	.	rs140829923,COSM189304	5/25	PASS	ENST00000007722	Transcript	.	.	ENSG00000005884	6139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.889)	.	tolerated(0.08)	0,1	ITA3_HUMAN	ITGA3	HGNC	Q86SW1_HUMAN	.	UPI0000140781	SNV	ITGA3,missense_variant,p.Arg4His,ENST00000544892,;ITGA3,missense_variant,p.Arg229His,ENST00000320031,;ITGA3,missense_variant,p.Arg229His,ENST00000007722,;ITGA3,upstream_gene_variant,,ENST00000512553,;ITGA3,3_prime_UTR_variant,,ENST00000506401,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,upstream_gene_variant,,ENST00000510809,;ITGA3,downstream_gene_variant,,ENST00000570989,;ITGA3,upstream_gene_variant,,ENST00000505552,;ITGA3,upstream_gene_variant,,ENST00000505612,;	686	117	200	SUCCESS
ZNF232	7775	.	GRCh37	17	5013065	5013065	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs966159418	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	30	70	0	ENST00000250076.3:c.122A>G	p.Gln41Arg	p.Q41R	ENST00000250076	NM_014519.2	41	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS11068.1	122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCTGAAGG	NONE	.	.	hmmpanther:PTHR23226:SF54,hmmpanther:PTHR23226	.	.	ENSP00000250076	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000250076	Transcript	.	.	ENSG00000167840	13026	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.07)	.	ZN232_HUMAN	ZNF232	HGNC	.	.	UPI00001D69EB	SNV	ZNF232,missense_variant,p.Gln14Arg,ENST00000416429,;ZNF232,missense_variant,p.Gln41Arg,ENST00000575898,;ZNF232,missense_variant,p.Gln41Arg,ENST00000250076,;AC012146.7,upstream_gene_variant,,ENST00000571138,;AC012146.7,upstream_gene_variant,,ENST00000570712,;AC012146.7,upstream_gene_variant,,ENST00000413077,;ZNF232,non_coding_transcript_exon_variant,,ENST00000575538,;ZNF232,splice_acceptor_variant,,ENST00000571076,;ZNF232,splice_acceptor_variant,,ENST00000574735,;ZNF232,3_prime_UTR_variant,,ENST00000570486,;ZNF232,3_prime_UTR_variant,,ENST00000573015,;ZNF232,upstream_gene_variant,,ENST00000572468,;	777	70	40	SUCCESS
CD300LB	124599	.	GRCh37	17	72518959	72518959	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	42	91	0	ENST00000392621.1:c.635C>T	p.Ser212Phe	p.S212F	ENST00000392621	NM_174892.3	212	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	.	635	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGAGACCCC	NONE	.	.	hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF41	.	.	ENSP00000376397	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392621	Transcript	.	.	ENSG00000178789	30811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.031)	.	tolerated(0.23)	.	CLM7_HUMAN	CD300LB	HGNC	B4DQ71_HUMAN	.	UPI000013F7FE	SNV	CD300LB,missense_variant,p.Ser212Phe,ENST00000392621,;CD300LB,downstream_gene_variant,,ENST00000314401,;	640	91	97	SUCCESS
TP53	7157	.	GRCh37	17	7578239	7578239	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	46	139	0	ENST00000269305.4:c.610G>T	p.Glu204Ter	p.E204*	ENST00000269305	NM_001126112.2	204	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11118.1	610	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTCCACAC	SITE|p.E204*|c.610G>T|3,SITE|p.E72*|c.214G>T|10,SITE|p.E204*|c.610G>T|32,SITE|p.E111*|c.331G>T|9,SITE|p.E204*|c.610G>T|9,SITE|p.E204*|c.610G>T|9,SITE|p.E204*|c.610G>T|4,CODON|p.0?|c.1_1182del1182|6,CODON|p.E204fs*43|c.610delG|3,BUFFER|p.D207G|c.620A>G|4,BUFFER|p.L206fs*41|c.617delT|4,BUFFER|p.L206*|c.617T>A|9,BUFFER|p.Y73C|c.218A>G|19,BUFFER|p.Y112C|c.335A>G|18,BUFFER|p.Y112S|c.335A>C|3,BUFFER|p.Y205C|c.614A>G|17,BUFFER|p.Y205C|c.614A>G|5,BUFFER|p.Y205S|c.614A>C|3,BUFFER|p.Y205C|c.614A>G|72,BUFFER|p.Y205F|c.614A>T|7,BUFFER|p.Y205S|c.614A>C|14,BUFFER|p.Y205S|c.614A>C|3,BUFFER|p.Y205C|c.614A>G|18,BUFFER|p.Y205C|c.614A>G|8,BUFFER|p.Y73S|c.218A>C|3,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y112fs*4|c.334_335insC|4,BUFFER|p.Y73fs*4|c.217_218insC|4,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y205fs*4|c.613_614insC|4,BUFFER|p.Y205N|c.613T>A|5,BUFFER|p.Y205N|c.613T>A|3,BUFFER|p.Y112N|c.334T>A|3,BUFFER|p.Y205H|c.613T>C|6,BUFFER|p.Y205D|c.613T>G|14,BUFFER|p.Y73N|c.217T>A|3,BUFFER|p.V203V|c.609G>T|3,BUFFER|p.V203E|c.608T>A|6,BUFFER|p.V203L|c.607G>T|4,BUFFER|p.R202L|c.605G>T|3,BUFFER|p.R202H|c.605G>A|4,BUFFER|p.R202C|c.604C>T|4,BUFFER|p.R202S|c.604C>A|6,BUFFER|p.L201F|c.603G>T|3,BUFFER|p.L201F|c.603G>C|4,BUFFER|p.N200fs*47|c.598delA|5	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12679del,TP53_g.12679G>A,TP53_g.12679G>C,TP53_g.12679G>T,COSM10804,COSM44011,COSM45782,COSM43990,COSM165087,COSM437512,COSM437513,COSM165086,COSM165088,COSM437515,COSM3362449,COSM1679501,COSM165089,COSM437514	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,stop_gained,p.Glu204Ter,ENST00000413465,;TP53,stop_gained,p.Glu204Ter,ENST00000420246,;TP53,stop_gained,p.Glu204Ter,ENST00000269305,;TP53,stop_gained,p.Glu72Ter,ENST00000509690,;TP53,stop_gained,p.Glu204Ter,ENST00000359597,;TP53,stop_gained,p.Glu111Ter,ENST00000514944,;TP53,stop_gained,p.Glu204Ter,ENST00000445888,;TP53,stop_gained,p.Glu204Ter,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	800	139	56	SUCCESS
SLC25A10	1468	.	GRCh37	17	79682599	79682599	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	71	0	ENST00000350690.5:c.305A>T	p.Lys102Met	p.K102M	ENST00000350690	NM_012140.4	102	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS59301.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAAGGTGT	NONE	.	.	PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF39,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	.	.	ENSP00000328403	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000331531	Transcript	.	.	ENSG00000183048	10980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	DIC_HUMAN	SLC25A10	HGNC	.	.	UPI000002A7E9	SNV	SLC25A10,missense_variant,p.Lys102Met,ENST00000350690,;SLC25A10,missense_variant,p.Lys257Met,ENST00000541223,;SLC25A10,missense_variant,p.Lys102Met,ENST00000331531,;SLC25A10,missense_variant,p.Lys257Met,ENST00000571730,;SLC25A10,missense_variant,p.Lys59Met,ENST00000545862,;SLC25A10,missense_variant,p.Lys69Met,ENST00000574884,;SLC25A10,3_prime_UTR_variant,,ENST00000574129,;SLC25A10,non_coding_transcript_exon_variant,,ENST00000571876,;SLC25A10,upstream_gene_variant,,ENST00000573246,;SLC25A10,upstream_gene_variant,,ENST00000570310,;	425	71	77	SUCCESS
DCXR	51181	.	GRCh37	17	79993869	79993869	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	28	54	0	ENST00000306869.2:c.702T>G	p.Thr234=	p.T234=	ENST00000306869	NM_016286.3	234	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS11799.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAAGTGGA	NONE	.	.	hmmpanther:PTHR24311:SF8,hmmpanther:PTHR24311,Gene3D:3.40.50.720,Pfam_domain:PF13561,Superfamily_domains:SSF51735	.	.	ENSP00000303356	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000306869	Transcript	.	.	ENSG00000169738	18985	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCXR_HUMAN	DCXR	HGNC	.	.	UPI000004C790	SNV	DCXR,synonymous_variant,p.%3D,ENST00000579004,;DCXR,synonymous_variant,p.%3D,ENST00000306869,;DCXR,3_prime_UTR_variant,,ENST00000581584,;DCXR,intron_variant,,ENST00000577532,;RAC3,downstream_gene_variant,,ENST00000306897,;DCXR,downstream_gene_variant,,ENST00000582900,;RAC3,downstream_gene_variant,,ENST00000580965,;DCXR,downstream_gene_variant,,ENST00000579155,;RAC3,downstream_gene_variant,,ENST00000584341,;DCXR,downstream_gene_variant,,ENST00000577712,;LRRC45,downstream_gene_variant,,ENST00000306688,;RP13-650J16.1,upstream_gene_variant,,ENST00000584705,;RP13-650J16.1,upstream_gene_variant,,ENST00000582558,;DCXR,downstream_gene_variant,,ENST00000584318,;DCXR,downstream_gene_variant,,ENST00000577996,;DCXR,non_coding_transcript_exon_variant,,ENST00000577286,;DCXR,non_coding_transcript_exon_variant,,ENST00000580320,;DCXR,non_coding_transcript_exon_variant,,ENST00000579334,;DCXR,non_coding_transcript_exon_variant,,ENST00000580750,;DCXR,non_coding_transcript_exon_variant,,ENST00000582074,;DCXR,non_coding_transcript_exon_variant,,ENST00000578885,;DCXR,non_coding_transcript_exon_variant,,ENST00000579842,;DCXR,downstream_gene_variant,,ENST00000578273,;DCXR,downstream_gene_variant,,ENST00000585164,;DCXR,downstream_gene_variant,,ENST00000585085,;DCXR,downstream_gene_variant,,ENST00000582613,;DCXR,downstream_gene_variant,,ENST00000579821,;RAC3,downstream_gene_variant,,ENST00000585014,;	752	54	57	SUCCESS
ZNF521	25925	.	GRCh37	18	22807356	22807356	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	52	117	0	ENST00000361524.3:c.526T>C	p.Cys176Arg	p.C176R	ENST00000361524	NM_015461.2	176	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS32806.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCAGTGGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157	.	.	ENSP00000354794	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,missense_variant,p.Cys176Arg,ENST00000538137,;ZNF521,missense_variant,p.Cys123Arg,ENST00000577720,;ZNF521,missense_variant,p.Cys176Arg,ENST00000577801,;ZNF521,missense_variant,p.Cys176Arg,ENST00000361524,;ZNF521,5_prime_UTR_variant,,ENST00000584787,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,non_coding_transcript_exon_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,missense_variant,p.Cys176Arg,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	675	117	113	SUCCESS
TAF4B	6875	.	GRCh37	18	23866000	23866000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	87	0	ENST00000269142.5:c.1127C>A	p.Ser376Tyr	p.S376Y	ENST00000269142	NM_005640.1	376	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS42421.1	1127	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCTGAAA	BUFFER|p.Q375H|c.1125G>T|5	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11	.	.	ENSP00000269142	.	7/15	.	.	.	.	.	.	.	.	.	7/15	PASS	ENST00000269142	Transcript	.	.	ENSG00000141384	11538	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.423)	.	deleterious(0.04)	.	TAF4B_HUMAN	TAF4B	HGNC	B4DYT3_HUMAN,A4PBF8_HUMAN	.	UPI00006C65F2	SNV	TAF4B,missense_variant,p.Ser376Tyr,ENST00000578121,;TAF4B,missense_variant,p.Ser376Tyr,ENST00000269142,;TAF4B,missense_variant,p.Ser376Tyr,ENST00000400466,;TAF4B,missense_variant,p.Ser376Tyr,ENST00000418698,;	2125	87	74	SUCCESS
LOXHD1	125336	.	GRCh37	18	44057756	44057756	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	68	0	ENST00000300591.6:c.3168G>A	p.Gly1056=	p.G1056=	ENST00000300591	NM_001145472.2	1056	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS45861.1	3168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCCCTGG	NONE	.	.	PROSITE_profiles:PS50095,Gene3D:2.60.60.20,Pfam_domain:PF01477,Superfamily_domains:SSF49723	.	.	ENSP00000300591	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,synonymous_variant,p.%3D,ENST00000582408,;LOXHD1,synonymous_variant,p.%3D,ENST00000300591,;LOXHD1,synonymous_variant,p.%3D,ENST00000441551,;LOXHD1,synonymous_variant,p.%3D,ENST00000398705,;LOXHD1,synonymous_variant,p.%3D,ENST00000441893,;LOXHD1,synonymous_variant,p.%3D,ENST00000579038,;LOXHD1,synonymous_variant,p.%3D,ENST00000536736,;LOXHD1,synonymous_variant,p.%3D,ENST00000398722,;LOXHD1,synonymous_variant,p.%3D,ENST00000398686,;	3582	68	50	SUCCESS
NOTCH3	4854	.	GRCh37	19	15302777	15302777	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	41	0	ENST00000263388.2:c.673C>T	p.Leu225Phe	p.L225F	ENST00000263388	NM_000435.2	225	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS12326.1	673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGACAGG	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Gene3D:2gy5A03,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,PROSITE_profiles:PS50026	.	.	ENSP00000263388	.	4/33	.	.	.	.	.	.	.	.	.	4/33	PASS	ENST00000263388	Transcript	1	.	ENSG00000074181	7883	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	NOTC3_HUMAN	NOTCH3	HGNC	.	.	UPI000013D3FA	SNV	NOTCH3,missense_variant,p.Leu225Phe,ENST00000263388,;NOTCH3,missense_variant,p.Leu224Phe,ENST00000601011,;	749	41	52	SUCCESS
AP3D1	8943	.	GRCh37	19	2137788	2137788	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs989616684	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	35	81	0	ENST00000345016.5:c.211G>A	p.Asp71Asn	p.D71N	ENST00000345016	NM_003938.6	71	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS58638.1	211	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCGTATC	NONE	.	.	hmmpanther:PTHR22781,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371	.	.	ENSP00000347416	.	3/32	.	.	.	.	.	.	.	.	.	3/32	PASS	ENST00000355272	Transcript	.	.	ENSG00000065000	568	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	AP3D1_HUMAN	AP3D1	HGNC	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN	.	UPI0000202F99	SNV	AP3D1,missense_variant,p.Asp71Asn,ENST00000356926,;AP3D1,missense_variant,p.Asp71Asn,ENST00000350812,;AP3D1,missense_variant,p.Asp71Asn,ENST00000355272,;AP3D1,missense_variant,p.Asp71Asn,ENST00000345016,;AP3D1,non_coding_transcript_exon_variant,,ENST00000591284,;	418	81	128	SUCCESS
DMKN	93099	.	GRCh37	19	36003635	36003635	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs561680729	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	40	0	ENST00000339686.3:c.484C>T	p.Gln162Ter	p.Q162*	ENST00000339686	NM_033317.4	162	Cag/Tag	0	.	A:0	.	A:0	.	A	Q/*	protein_coding	YES	CCDS12463.1	484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGCCCT	NONE	by1000G	.	Low_complexity_(Seg):seg	A:0.001	.	ENSP00000342012	A:0	2/16	.	.	.	.	.	.	.	.	rs561680729	2/16	PASS	ENST00000339686	Transcript	.	A:0.0002	ENSG00000161249	25063	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DMKN_HUMAN	DMKN	HGNC	R4GMQ0_HUMAN	.	UPI00002020EB	SNV	DMKN,stop_gained,p.Gln162Ter,ENST00000419602,;DMKN,stop_gained,p.Gln162Ter,ENST00000429837,;DMKN,stop_gained,p.Gln162Ter,ENST00000424570,;DMKN,stop_gained,p.Gln162Ter,ENST00000418261,;DMKN,stop_gained,p.Gln162Ter,ENST00000440396,;DMKN,stop_gained,p.Gln162Ter,ENST00000447113,;DMKN,stop_gained,p.Gln162Ter,ENST00000451297,;DMKN,stop_gained,p.Gln162Ter,ENST00000339686,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000414866,;DMKN,upstream_gene_variant,,ENST00000402589,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000436012,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000597212,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000480507,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000595571,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000488762,;	661	40	39	SUCCESS
RBM42	79171	.	GRCh37	19	36120568	36120568	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	23	57	0	ENST00000262633.4:c.275A>G	p.Tyr92Cys	p.Y92C	ENST00000262633	NM_024321.3	92	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12468.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATACCAGC	NONE	.	.	.	.	.	ENSP00000262633	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000262633	Transcript	.	.	ENSG00000126254	28117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	RBM42_HUMAN	RBM42	HGNC	.	.	UPI000006D046	SNV	RBM42,missense_variant,p.Tyr92Cys,ENST00000588161,;RBM42,missense_variant,p.Tyr92Cys,ENST00000262633,;RBM42,missense_variant,p.Tyr92Cys,ENST00000592202,;RBM42,missense_variant,p.Tyr92Cys,ENST00000360475,;RBM42,missense_variant,p.Tyr92Cys,ENST00000589559,;RBM42,missense_variant,p.Tyr92Cys,ENST00000589871,;RBM42,missense_variant,p.Tyr92Cys,ENST00000586618,;HAUS5,downstream_gene_variant,,ENST00000203166,;RBM42,non_coding_transcript_exon_variant,,ENST00000592526,;HAUS5,downstream_gene_variant,,ENST00000428854,;HAUS5,downstream_gene_variant,,ENST00000424522,;	380	57	48	SUCCESS
PLD3	23646	.	GRCh37	19	40882529	40882529	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	21	0	ENST00000356508.5:c.1033A>G	p.Ile345Val	p.I345V	ENST00000356508	NM_001031696.2	345	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS33027.1	1033	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCATTGAC	NONE	.	.	hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16,Gene3D:3.30.870.10,Pfam_domain:PF13918,Superfamily_domains:SSF56024	.	.	ENSP00000387050	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000409587	Transcript	.	.	ENSG00000105223	17158	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.211)	.	deleterious(0.04)	.	PLD3_HUMAN	PLD3	HGNC	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN	.	UPI000004FA75	SNV	PLD3,missense_variant,p.Ile345Val,ENST00000409281,;PLD3,missense_variant,p.Ile345Val,ENST00000409419,;PLD3,missense_variant,p.Ile345Val,ENST00000409587,;PLD3,missense_variant,p.Ile80Val,ENST00000596470,;PLD3,missense_variant,p.Ile345Val,ENST00000409735,;PLD3,missense_variant,p.Ile345Val,ENST00000356508,;HIPK4,downstream_gene_variant,,ENST00000291823,;PLD3,non_coding_transcript_exon_variant,,ENST00000488311,;PLD3,upstream_gene_variant,,ENST00000486134,;PLD3,downstream_gene_variant,,ENST00000475983,;PLD3,downstream_gene_variant,,ENST00000492243,;	1430	21	24	SUCCESS
DPP9	91039	.	GRCh37	19	4704012	4704012	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	68	0	ENST00000598800.1:c.568G>C	p.Asp190His	p.D190H	ENST00000598800		190	Gac/Cac	0	.	.	.	.	.	G	D/H	protein_coding	YES	CCDS45928.1	655	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCCATCC	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171	.	.	ENSP00000262960	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000262960	Transcript	1	.	ENSG00000142002	18648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DPP9_HUMAN	DPP9	HGNC	M0R3E8_HUMAN,M0R3C4_HUMAN,M0R2G6_HUMAN,M0R145_HUMAN,M0R0I1_HUMAN,M0QXN4_HUMAN,M0QXG6_HUMAN	.	UPI000004DB00	SNV	DPP9,missense_variant,p.Asp20His,ENST00000597726,;DPP9,missense_variant,p.Asp219His,ENST00000262960,;DPP9,missense_variant,p.Asp190His,ENST00000598800,;DPP9,missense_variant,p.Asp190His,ENST00000594671,;DPP9,missense_variant,p.Asp219His,ENST00000597849,;DPP9,downstream_gene_variant,,ENST00000602161,;DPP9,downstream_gene_variant,,ENST00000598360,;DPP9,downstream_gene_variant,,ENST00000600621,;DPP9,missense_variant,p.Asp26His,ENST00000599163,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;DPP9,downstream_gene_variant,,ENST00000600556,;	933	68	63	SUCCESS
NPAS1	4861	.	GRCh37	19	47548495	47548495	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs147026903	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	28	122	0	ENST00000449844.2:c.1359C>A	p.Asn453Lys	p.N453K	ENST00000449844	NM_002517.2	453	aaC/aaA	0	G:0.0002	.	.	.	.	A	N/K	protein_coding	YES	CCDS12694.1	1359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAACGAGGC	NONE	byCluster	.	hmmpanther:PTHR23043:SF20,hmmpanther:PTHR23043	.	G:0	ENSP00000469142	.	12/12	.	.	.	.	.	.	.	.	rs147026903,COSM4079680	12/12	PASS	ENST00000602212	Transcript	.	.	ENSG00000130751	7894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.01)	.	tolerated(0.26)	0,1	NPAS1_HUMAN	NPAS1	HGNC	.	.	UPI0000073CD1	SNV	NPAS1,missense_variant,p.Asn453Lys,ENST00000602212,;NPAS1,missense_variant,p.Asn278Lys,ENST00000602189,;NPAS1,missense_variant,p.Asn453Lys,ENST00000449844,;NPAS1,3_prime_UTR_variant,,ENST00000439365,;TMEM160,downstream_gene_variant,,ENST00000253047,;NPAS1,downstream_gene_variant,,ENST00000594670,;NPAS1,downstream_gene_variant,,ENST00000594257,;NPAS1,downstream_gene_variant,,ENST00000601169,;NPAS1,downstream_gene_variant,,ENST00000600352,;	1579	122	138	SUCCESS
DHX34	9704	.	GRCh37	19	47865878	47865878	+	synonymous_variant	Silent	SNP	G	G	T	rs766716618	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	48	102	0	ENST00000328771.4:c.1521G>T	p.Ser507=	p.S507=	ENST00000328771	NM_014681.5	507	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12700.1	1521	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATCGGACTA	NONE	byFrequency	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF110,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000331907	.	6/17	.	.	.	.	.	.	.	.	rs766716618	6/17	PASS	ENST00000328771	Transcript	.	.	ENSG00000134815	16719	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX34_HUMAN	DHX34	HGNC	.	.	UPI0000202759	SNV	DHX34,synonymous_variant,p.%3D,ENST00000328771,;DHX34,intron_variant,,ENST00000471451,;DHX34,upstream_gene_variant,,ENST00000486327,;	1870	102	102	SUCCESS
ZNF578	147660	.	GRCh37	19	53015005	53015005	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	99	0	ENST00000421239.2:c.1371T>A	p.Cys457Ter	p.C457*	ENST00000421239	NM_001099694.1	457	tgT/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS54310.1	1371	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGTGAAGA	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,PROSITE_profiles:PS50157	.	.	ENSP00000459216	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF578,stop_gained,p.Cys457Ter,ENST00000421239,;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;	1615	100	90	SUCCESS
ZIM3	114026	.	GRCh37	19	57646441	57646441	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	38	83	0	ENST00000269834.1:c.1264A>G	p.Ser422Gly	p.S422G	ENST00000269834	NM_052882.1	422	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS33125.1	1264	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACTACATC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000269834	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269834	Transcript	.	.	ENSG00000141946	16366	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.08)	.	ZIM3_HUMAN	ZIM3	HGNC	.	.	UPI000013C3E0	SNV	ZIM3,missense_variant,p.Ser422Gly,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000598197,;USP29,downstream_gene_variant,,ENST00000254181,;U3,upstream_gene_variant,,ENST00000516874,;	1650	83	76	SUCCESS
MUC16	94025	.	GRCh37	19	9064481	9064481	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs546210055	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	30	92	0	ENST00000397910.4:c.22965G>T	p.Gln7655His	p.Q7655H	ENST00000397910	NM_024690.2	7655	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS54212.1	22965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCCTGAAT	NONE	byCluster	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	rs546210055	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Gln7655His,ENST00000397910,;	23169	92	107	SUCCESS
CASQ2	845	.	GRCh37	1	116311265	116311265	+	5_prime_UTR_variant	5'UTR	DEL	G	G	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	24	0	ENST00000261448.5:c.-103del		p.*35*	ENST00000261448	NM_001232.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS884.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGCTGATTTT	NONE	.	.	.	.	.	ENSP00000261448	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000261448	Transcript	.	.	ENSG00000118729	1513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASQ2_HUMAN	CASQ2	HGNC	.	.	UPI0000126F16	deletion	CASQ2,5_prime_UTR_variant,,ENST00000456138,;CASQ2,5_prime_UTR_variant,,ENST00000261448,;	138	24	23	SUCCESS
KIAA2013	90231	.	GRCh37	1	11985677	11985677	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	72	0	ENST00000376572.3:c.618C>A	p.Ile206=	p.I206=	ENST00000376572	NM_138346.2	206	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS141.1	618	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGATGCG	NONE	.	.	hmmpanther:PTHR31386,Pfam_domain:PF10222	.	.	ENSP00000365756	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000376572	Transcript	.	.	ENSG00000116685	28513	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2013_HUMAN	KIAA2013	HGNC	.	.	UPI00000741FB	SNV	KIAA2013,synonymous_variant,p.%3D,ENST00000376576,;KIAA2013,synonymous_variant,p.%3D,ENST00000376572,;	804	72	81	SUCCESS
PHGDH	26227	.	GRCh37	1	120286648	120286648	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	89	0	ENST00000369409.4:c.1587C>G	p.Phe529Leu	p.F529L	ENST00000369409	NM_006623.3	529	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS904.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTCCAGTT	NONE	.	.	.	.	.	ENSP00000358417	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369409	Transcript	.	.	ENSG00000092621	8923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.1)	.	SERA_HUMAN	PHGDH	HGNC	Q9UMY3_HUMAN,Q9UMY2_HUMAN,Q96RV8_HUMAN,Q96RV7_HUMAN,Q96RV6_HUMAN,Q96RV5_HUMAN,Q8N5M8_HUMAN	.	UPI000013586A	SNV	PHGDH,missense_variant,p.Phe495Leu,ENST00000369407,;PHGDH,missense_variant,p.Phe529Leu,ENST00000369409,;HMGCS2,downstream_gene_variant,,ENST00000544913,;HMGCS2,downstream_gene_variant,,ENST00000369406,;PHGDH,non_coding_transcript_exon_variant,,ENST00000482968,;	1723	89	85	SUCCESS
NBPF10	100132406	.	GRCh37	1	145304611	145304611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	277	58	146	0	ENST00000342960.5:c.1544C>T	p.Ser515Phe	p.S515F	ENST00000342960	NM_001039703.5	515	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	.	1544	RADIA|MUTECT|MUSE|VARSCANS	.	CTCATCCTCTC	NONE	.	.	PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16	.	.	ENSP00000345684	.	10/84	.	.	.	.	.	.	.	.	.	10/84	PASS	ENST00000342960	Transcript	.	.	ENSG00000163386	31992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.48)	.	.	.	.	NBPF10	HGNC	S4R3H5_HUMAN,A6NDV3_HUMAN	.	UPI0001CE93AE	SNV	NBPF10,missense_variant,p.Ser181Phe,ENST00000605176,;NBPF10,missense_variant,p.Ser244Phe,ENST00000369339,;NBPF10,missense_variant,p.Ser515Phe,ENST00000342960,;NBPF10,missense_variant,p.Ser244Phe,ENST00000369338,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,missense_variant,p.Ser515Phe,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;	1579	146	335	SUCCESS
LOR	0	.	GRCh37	1	153233515	153233515	+	synonymous_variant	Silent	SNP	C	C	T	rs747858365	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	45	0	ENST00000368742.3:c.90C>T	p.Gly30=	p.G30=	ENST00000368742	NM_000427.2	30	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30870.1	90	MUTECT|MUSE	.	AGCGGCGGTGG	BUFFER|p.G27G|c.81C>T|6,BUFFER|p.S29G|c.85A>G|4	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51257	.	.	ENSP00000357731	.	2/2	.	.	.	.	.	.	.	.	rs747858365	2/2	PASS	ENST00000368742	Transcript	.	.	ENSG00000203782	6663	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LORI_HUMAN	LOR	HGNC	Q6FHY3_HUMAN	.	UPI0000470BBD	SNV	LOR,synonymous_variant,p.%3D,ENST00000368742,;	147	45	87	SUCCESS
NES	10763	.	GRCh37	1	156639315	156639315	+	synonymous_variant	Silent	SNP	G	G	A	rs148568870	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	23	76	0	ENST00000368223.3:c.4665C>T	p.Asn1555=	p.N1555=	ENST00000368223	NM_006617.1	1555	aaC/aaT	0	T:0.0002	.	.	.	.	A	N	protein_coding	YES	CCDS1151.1	4665	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGTTCAT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	T:0.0007	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	rs148568870	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,synonymous_variant,p.%3D,ENST00000368223,;	4798	76	146	SUCCESS
CD1A	909	.	GRCh37	1	158225110	158225110	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs776795053	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	30	72	0	ENST00000289429.5:c.295C>G	p.Arg99Gly	p.R99G	ENST00000289429	NM_001763.2	99	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS1174.1	295	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCGTAGA	NONE	byFrequency	.	Superfamily_domains:SSF54452,Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675:SF160,hmmpanther:PTHR16675	.	.	ENSP00000289429	.	2/6	.	.	.	.	.	.	.	.	rs776795053,COSM1985900,COSM1498714	2/6	PASS	ENST00000289429	Transcript	.	.	ENSG00000158477	1634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.023)	.	deleterious(0.01)	0,1,1	CD1A_HUMAN	CD1A	HGNC	.	.	UPI0000161A54	SNV	CD1A,missense_variant,p.Arg99Gly,ENST00000289429,;	828	72	130	SUCCESS
OR10Z1	128368	.	GRCh37	1	158576910	158576910	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs904696451	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	33	52	0	ENST00000361284.1:c.682A>G	p.Ile228Val	p.I228V	ENST00000361284	NM_001004478.1	228	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS30901.1	682	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGATCCCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000354707	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361284	Transcript	.	.	ENSG00000198967	14996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.351)	.	deleterious(0.01)	.	O10Z1_HUMAN	OR10Z1	HGNC	.	.	UPI000004CA23	SNV	OR10Z1,missense_variant,p.Ile228Val,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000368147,;SPTA1,downstream_gene_variant,,ENST00000485680,;	682	52	107	SUCCESS
DCAF6	55827	.	GRCh37	1	167906041	167906041	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs569974742	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	60	71	0	ENST00000312263.6:c.-109C>T		p.*37*	ENST00000312263	NM_001017977.2			0	.	G:0	.	G:0.0014	.	T	.	protein_coding	YES	CCDS55657.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGGCCCGGCGC	NONE	by1000G	15	.	G:0	.	ENSP00000356814	G:0	.	.	.	.	.	.	.	.	.	rs569974742	.	PASS	ENST00000367840	Transcript	.	G:0.0002	ENSG00000143164	30002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0	.	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,5_prime_UTR_variant,,ENST00000312263,;DCAF6,5_prime_UTR_variant,,ENST00000432587,;MPC2,5_prime_UTR_variant,,ENST00000458574,;DCAF6,5_prime_UTR_variant,,ENST00000367843,;MPC2,intron_variant,,ENST00000271373,;DCAF6,upstream_gene_variant,,ENST00000367840,;MPC2,upstream_gene_variant,,ENST00000367846,;DCAF6,intron_variant,,ENST00000470919,;DCAF6,intron_variant,,ENST00000450548,;DCAF6,upstream_gene_variant,,ENST00000455334,;DCAF6,5_prime_UTR_variant,,ENST00000470721,;	.	71	97	SUCCESS
CACNA1E	777	.	GRCh37	1	181724436	181724436	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	49	0	ENST00000367573.2:c.3892C>G	p.Leu1298Val	p.L1298V	ENST00000367573	NM_001205293.1	1298	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS55664.1	3892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGCTCTTC	NONE	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF57,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix	.	.	ENSP00000356545	.	28/48	.	.	.	.	.	.	.	.	.	28/48	PASS	ENST00000367573	Transcript	.	.	ENSG00000198216	1392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.333)	.	deleterious(0)	.	CAC1E_HUMAN	CACNA1E	HGNC	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN	.	UPI00004588C2	SNV	CACNA1E,missense_variant,p.Leu1230Val,ENST00000358338,;CACNA1E,missense_variant,p.Leu905Val,ENST00000367567,;CACNA1E,missense_variant,p.Leu1249Val,ENST00000357570,;CACNA1E,missense_variant,p.Leu1279Val,ENST00000360108,;CACNA1E,missense_variant,p.Leu1279Val,ENST00000526775,;CACNA1E,missense_variant,p.Leu1298Val,ENST00000367573,;CACNA1E,missense_variant,p.Leu1298Val,ENST00000367570,;	3892	49	105	SUCCESS
ELK4	2005	.	GRCh37	1	205589082	205589082	+	intron_variant	Intron	SNP	C	C	A	rs765720756	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	89	0	ENST00000357992.4:c.1080+12G>T		p.*360*	ENST00000357992	NM_001973.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1456.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCGAGCA	NONE	byFrequency	.	.	.	.	ENSP00000350681	.	.	.	.	.	.	.	.	.	.	rs765720756,COSM209634	.	PASS	ENST00000357992	Transcript	.	.	ENSG00000158711	3326	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	ELK4_HUMAN	ELK4	HGNC	Q8IXL1_HUMAN	.	UPI0000129E67	SNV	ELK4,synonymous_variant,p.%3D,ENST00000289703,;ELK4,intron_variant,,ENST00000357992,;ELK4,downstream_gene_variant,,ENST00000468523,;	.	89	136	SUCCESS
SLC26A9	115019	.	GRCh37	1	205886474	205886474	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	64	0	ENST00000367135.3:c.2265G>T	p.Gly755=	p.G755=	ENST00000367135	NM_052934.3	755	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS30989.1	2265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCCCTGG	NONE	.	.	hmmpanther:PTHR11814:SF17,hmmpanther:PTHR11814	.	.	ENSP00000356102	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,synonymous_variant,p.%3D,ENST00000367135,;SLC26A9,synonymous_variant,p.%3D,ENST00000340781,;SLC26A9,synonymous_variant,p.%3D,ENST00000367134,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;	2379	64	70	SUCCESS
PLXNA2	5362	.	GRCh37	1	208257756	208257756	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	53	83	0	ENST00000367033.3:c.2267A>G	p.Asn756Ser	p.N756S	ENST00000367033	NM_025179.3	756	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS31013.1	2267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTTGAAG	NONE	.	.	hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625	.	.	ENSP00000356000	.	10/32	.	.	.	.	.	.	.	.	.	10/32	PASS	ENST00000367033	Transcript	.	.	ENSG00000076356	9100	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	tolerated(0.23)	.	PLXA2_HUMAN	PLXNA2	HGNC	.	.	UPI000022B239	SNV	PLXNA2,missense_variant,p.Asn756Ser,ENST00000367033,;	3025	83	94	SUCCESS
RPS6KC1	26750	.	GRCh37	1	213403855	213403855	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	26	78	0	ENST00000366960.3:c.1060G>A	p.Asp354Asn	p.D354N	ENST00000366960	NM_012424.3	354	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS1513.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGGACACA	NONE	.	.	Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR15508:SF2,hmmpanther:PTHR15508	.	.	ENSP00000355927	.	9/15	.	.	.	.	.	.	.	.	COSM3689339,COSM3689340	9/15	PASS	ENST00000366960	Transcript	.	.	ENSG00000136643	10439	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.998)	.	deleterious(0.04)	1,1	KS6C1_HUMAN	RPS6KC1	HGNC	.	.	UPI0000071B8C	SNV	RPS6KC1,missense_variant,p.Asp342Asn,ENST00000366959,;RPS6KC1,missense_variant,p.Asp354Asn,ENST00000366960,;RPS6KC1,missense_variant,p.Asp57Asn,ENST00000543354,;RPS6KC1,missense_variant,p.Asp142Asn,ENST00000543470,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,;	1210	78	112	SUCCESS
USH2A	7399	.	GRCh37	1	216420308	216420308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	69	121	0	ENST00000307340.3:c.2428G>T	p.Ala810Ser	p.A810S	ENST00000307340	NM_206933.2	810	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS31025.1	2428	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAGCATTAC	NONE	.	.	Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	.	.	ENSP00000305941	.	13/72	.	.	.	.	.	.	.	.	.	13/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.084)	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,missense_variant,p.Ala810Ser,ENST00000366942,;USH2A,missense_variant,p.Ala810Ser,ENST00000366943,;USH2A,missense_variant,p.Ala810Ser,ENST00000307340,;	2815	121	213	SUCCESS
OR2T4	127074	.	GRCh37	1	248524962	248524962	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	255	86	242	0	ENST00000366475.1:c.80A>C	p.His27Pro	p.H27P	ENST00000366475	NM_001004696.1	27	cAt/cCt	0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS31113.1	80	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACATCCAA	NONE	.	.	.	.	.	ENSP00000355431	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366475	Transcript	.	.	ENSG00000196944	15016	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.28)	.	OR2T4_HUMAN	OR2T4	HGNC	.	.	UPI000004B9CC	SNV	OR2T4,missense_variant,p.His27Pro,ENST00000366475,;	80	242	342	SUCCESS
SLC9A1	6548	.	GRCh37	1	27429729	27429732	+	frameshift_variant	Frame_Shift_Del	DEL	TTCG	TTCG	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	TTCG	TTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	72	0	ENST00000263980.3:c.1557_1560del	p.Asn519LysfsTer12	p.N519Kfs*12	ENST00000263980	NM_003047.4	519	aaCGAA/aa	0	.	.	.	.	.	-	NE/X	protein_coding	YES	CCDS295.1	1557-1560	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCTCTTCGTTGAT	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840	.	.	ENSP00000263980	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000263980	Transcript	.	.	ENSG00000090020	11071	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SL9A1_HUMAN	SLC9A1	HGNC	B4DTZ6_HUMAN,B1ALD5_HUMAN	.	UPI000012FD1B	deletion	SLC9A1,frameshift_variant,p.Asn519LysfsTer12,ENST00000263980,;SLC9A1,frameshift_variant,p.Asn180LysfsTer12,ENST00000545949,;SLC9A1,downstream_gene_variant,,ENST00000374086,;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,upstream_gene_variant,,ENST00000447808,;	2133-2136	72	58	SUCCESS
UTP11L	0	.	GRCh37	1	38478438	38478438	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	60	0	ENST00000373014.4:c.-37G>A		p.*13*	ENST00000373014	NM_016037.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS429.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCGGCGTT	NONE	.	.	.	.	.	ENSP00000362105	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000373014	Transcript	.	.	ENSG00000183520	24329	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UTP11_HUMAN	UTP11L	HGNC	.	.	UPI000006FDFC	SNV	UTP11L,5_prime_UTR_variant,,ENST00000373014,;UTP11L,upstream_gene_variant,,ENST00000537711,;UTP11L,non_coding_transcript_exon_variant,,ENST00000486563,;UTP11L,non_coding_transcript_exon_variant,,ENST00000483182,;UTP11L,upstream_gene_variant,,ENST00000488453,;	25	60	61	SUCCESS
TIE1	7075	.	GRCh37	1	43774664	43774664	+	synonymous_variant	Silent	SNP	C	C	T	rs776335343	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	279	13	185	0	ENST00000372476.3:c.1050C>T	p.Ile350=	p.I350=	ENST00000372476	NM_005424.4	350	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS482.1	1050	MUTECT|MUSE	.	CGGATCCCCCA	NONE	byCluster	.	hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40	.	.	ENSP00000361554	.	8/23	.	.	.	.	.	.	.	.	rs776335343	8/23	PASS	ENST00000372476	Transcript	.	.	ENSG00000066056	11809	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIE1_HUMAN	TIE1	HGNC	Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN	.	UPI0000032E59	SNV	TIE1,synonymous_variant,p.%3D,ENST00000372476,;TIE1,5_prime_UTR_variant,,ENST00000433781,;TIE1,intron_variant,,ENST00000441333,;TIE1,downstream_gene_variant,,ENST00000538015,;TIE1,non_coding_transcript_exon_variant,,ENST00000480269,;TIE1,upstream_gene_variant,,ENST00000461061,;TIE1,upstream_gene_variant,,ENST00000471187,;TIE1,upstream_gene_variant,,ENST00000473014,;TIE1,downstream_gene_variant,,ENST00000485125,;TIE1,upstream_gene_variant,,ENST00000488437,;	1129	185	293	SUCCESS
CYP4A11	1579	.	GRCh37	1	47401258	47401258	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	190	141	354	0	ENST00000310638.4:c.572T>C	p.Leu191Ser	p.L191S	ENST00000310638	NM_000778.3	191	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS543.1	572	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCAAGGAG	NONE	.	.	hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000311095	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000310638	Transcript	.	.	ENSG00000187048	2642	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.58)	.	deleterious(0.03)	.	CP4AB_HUMAN	CYP4A11	HGNC	.	.	UPI00001281E4	SNV	CYP4A11,missense_variant,p.Leu191Ser,ENST00000462347,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000371904,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000371905,;CYP4A11,missense_variant,p.Leu87Ser,ENST00000457840,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000310638,;CYP4A11,upstream_gene_variant,,ENST00000496519,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000465874,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000475477,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000468629,;CYP4A11,missense_variant,p.Leu191Ser,ENST00000474458,;	604	354	331	SUCCESS
MROH7-TTC4	100527960	.	GRCh37	1	55165872	55165872	+	intron_variant,NMD_transcript_variant	Intron	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	58	161	0	ENST00000414150.2:c.2965-122G>A		p.*989*	ENST00000414150				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41342.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGCAAGT	NONE	.	.	.	.	.	ENSP00000396622	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421030	Transcript	.	.	ENSG00000184313	24802	.	.	MODIFIER	17/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MROH7_HUMAN	MROH7	HGNC	C9K0L2_HUMAN,B7ZBM2_HUMAN	.	UPI000198C4E2	SNV	MROH7,synonymous_variant,p.%3D,ENST00000339553,;MROH7,3_prime_UTR_variant,,ENST00000395690,;MROH7,intron_variant,,ENST00000454855,;MROH7,intron_variant,,ENST00000409996,;MROH7,intron_variant,,ENST00000421030,;MROH7,intron_variant,,ENST00000545244,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,non_coding_transcript_exon_variant,,ENST00000371287,;MROH7-TTC4,non_coding_transcript_exon_variant,,ENST00000460155,;MROH7,intron_variant,,ENST00000440217,;MROH7-TTC4,intron_variant,,ENST00000414150,;MROH7,intron_variant,,ENST00000413188,;MROH7-TTC4,intron_variant,,ENST00000425300,;MROH7,intron_variant,,ENST00000422659,;MROH7,intron_variant,,ENST00000440047,;MROH7-TTC4,intron_variant,,ENST00000606515,;MROH7,downstream_gene_variant,,ENST00000493533,;	.	161	143	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77333215	77333215	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	47	74	1	ENST00000477717.1:c.-146G>T		p.*49*	ENST00000477717	NM_030965.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS673.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCCCGCGGCT	NONE	.	.	.	.	.	ENSP00000417583	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000477717	Transcript	.	.	ENSG00000117069	19342	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,5_prime_UTR_variant,,ENST00000477717,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000480428,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000496845,;ST6GALNAC5,5_prime_UTR_variant,,ENST00000318803,;	90	75	78	SUCCESS
LMO4	8543	.	GRCh37	1	87797781	87797781	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	105	0	ENST00000370542.1:c.83G>T	p.Gly28Val	p.G28V	ENST00000370542		28	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS713.1	83	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGCAAGA	NONE	.	.	PROSITE_profiles:PS50023,hmmpanther:PTHR24208:SF93,hmmpanther:PTHR24208,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716	.	.	ENSP00000359575	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000370544	Transcript	.	.	ENSG00000143013	6644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.767)	.	tolerated(0.07)	.	LMO4_HUMAN	LMO4	HGNC	.	.	UPI0000004145	SNV	LMO4,missense_variant,p.Gly28Val,ENST00000370542,;LMO4,missense_variant,p.Gly28Val,ENST00000370544,;LMO4,non_coding_transcript_exon_variant,,ENST00000489303,;LMO4,non_coding_transcript_exon_variant,,ENST00000495705,;	863	105	81	SUCCESS
SEL1L2	80343	.	GRCh37	20	13894546	13894546	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	97	0	ENST00000284951.5:c.431A>C	p.Lys144Thr	p.K144T	ENST00000284951		144	aAa/aCa	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS59443.1	431	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTTTCAAG	NONE	.	.	hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901	.	.	ENSP00000367312	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000378072	Transcript	.	.	ENSG00000101251	15897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.432)	.	deleterious(0.05)	.	SE1L2_HUMAN	SEL1L2	HGNC	C9JNX3_HUMAN	.	UPI000003BCBF	SNV	SEL1L2,missense_variant,p.Lys144Thr,ENST00000284951,;SEL1L2,missense_variant,p.Lys32Thr,ENST00000473203,;SEL1L2,missense_variant,p.Lys144Thr,ENST00000378072,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000476952,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;	513	97	85	SUCCESS
PXMP4	11264	.	GRCh37	20	32295627	32295627	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs182672515	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	64	118	0	ENST00000409299.3:c.524G>A	p.Arg175Gln	p.R175Q	ENST00000409299	NM_007238.4	175	cGa/cAa	0	.	T:0	.	T:0	.	T	R/Q	protein_coding	YES	CCDS13225.1	524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATCGGTGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR15460,PIRSF_domain:PIRSF013674	T:0	.	ENSP00000386385	T:0.001	4/4	.	.	.	.	.	.	.	.	rs182672515	4/4	PASS	ENST00000409299	Transcript	.	T:0.0002	ENSG00000101417	15920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	T:0	tolerated(0.29)	.	PXMP4_HUMAN	PXMP4	HGNC	B4DLI8_HUMAN	.	UPI000013C727	SNV	PXMP4,missense_variant,p.Arg175Gln,ENST00000409299,;PXMP4,3_prime_UTR_variant,,ENST00000217398,;PXMP4,3_prime_UTR_variant,,ENST00000344022,;	617	118	128	SUCCESS
OCSTAMP	128506	.	GRCh37	20	45170059	45170059	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	20	115	0	ENST00000279028.2:c.1555G>A	p.Val519Met	p.V519M	ENST00000279028	NM_080721.2	519	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS54468.1	1555	RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACACAGG	NONE	.	.	hmmpanther:PTHR21041:SF3,hmmpanther:PTHR21041	.	.	ENSP00000279028	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000279028	Transcript	.	.	ENSG00000149635	16116	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.328)	.	deleterious_low_confidence(0.01)	.	OCSTP_HUMAN	OCSTAMP	HGNC	.	.	UPI00006C1A90	SNV	OCSTAMP,missense_variant,p.Val519Met,ENST00000279028,;	1569	115	126	SUCCESS
TRPM2	7226	.	GRCh37	21	45819301	45819301	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	74	0	ENST00000300482.5:c.2185T>C	p.Phe729Leu	p.F729L	ENST00000300482		729	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS13710.1	2185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGTTTGTG	NONE	.	.	hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800	.	.	ENSP00000381023	.	14/32	.	.	.	.	.	.	.	.	.	14/32	PASS	ENST00000397928	Transcript	.	.	ENSG00000142185	12339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,missense_variant,p.Phe709Leu,ENST00000300481,;TRPM2,missense_variant,p.Phe729Leu,ENST00000397928,;TRPM2,missense_variant,p.Phe729Leu,ENST00000397932,;TRPM2,missense_variant,p.Phe729Leu,ENST00000300482,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	2630	74	84	SUCCESS
THOC5	8563	.	GRCh37	22	29913322	29913322	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779508937	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	45	117	0	ENST00000397871.1:c.1523A>G	p.Gln508Arg	p.Q508R	ENST00000397871	NM_001002879.1	508	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS13859.1	1523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTACTGGCAA	NONE	.	.	hmmpanther:PTHR13375,hmmpanther:PTHR13375:SF3	.	.	ENSP00000420306	.	16/20	.	.	.	.	.	.	.	.	rs779508937	16/20	PASS	ENST00000490103	Transcript	.	.	ENSG00000100296	19074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.33)	.	THOC5_HUMAN	THOC5	HGNC	C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN	.	UPI000013FD77	SNV	THOC5,missense_variant,p.Gln508Arg,ENST00000490103,;THOC5,missense_variant,p.Gln508Arg,ENST00000397871,;THOC5,missense_variant,p.Gln508Arg,ENST00000397873,;THOC5,missense_variant,p.Gln508Arg,ENST00000397872,;CTA-256D12.11,intron_variant,,ENST00000411969,;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,downstream_gene_variant,,ENST00000484924,;	1646	117	96	SUCCESS
TTC38	55020	.	GRCh37	22	46685390	46685390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	64	0	ENST00000381031.3:c.1174G>T	p.Asp392Tyr	p.D392Y	ENST00000381031	NM_017931.2	392	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS43030.1	1174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGACCGC	NONE	.	.	hmmpanther:PTHR16263:SF4,hmmpanther:PTHR16263	.	.	ENSP00000370419	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000381031	Transcript	.	.	ENSG00000075234	26082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0.01)	.	TTC38_HUMAN	TTC38	HGNC	.	.	UPI0000470C96	SNV	TTC38,missense_variant,p.Asp334Tyr,ENST00000445282,;TTC38,missense_variant,p.Asp392Tyr,ENST00000381031,;TTC38,missense_variant,p.Asp58Tyr,ENST00000451998,;	1250	64	53	SUCCESS
NCAPH2	29781	.	GRCh37	22	50946650	50946650	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	21	0	ENST00000420993.2:c.-117T>C		p.*39*	ENST00000420993	NM_001185011.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54546.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCGCCTACGCA	NONE	.	39	.	.	.	ENSP00000299821	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000299821	Transcript	.	.	ENSG00000025770	25071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNDH2_HUMAN	NCAPH2	HGNC	.	.	UPI0000207A65	SNV	NCAPH2,5_prime_UTR_variant,,ENST00000420993,;NCAPH2,upstream_gene_variant,,ENST00000523045,;LMF2,upstream_gene_variant,,ENST00000216080,;NCAPH2,upstream_gene_variant,,ENST00000395701,;NCAPH2,upstream_gene_variant,,ENST00000299821,;LMF2,upstream_gene_variant,,ENST00000380796,;NCAPH2,upstream_gene_variant,,ENST00000395698,;LMF2,upstream_gene_variant,,ENST00000474879,;LMF2,upstream_gene_variant,,ENST00000505981,;LMF2,upstream_gene_variant,,ENST00000507607,;NCAPH2,upstream_gene_variant,,ENST00000418794,;LMF2,upstream_gene_variant,,ENST00000514938,;NCAPH2,upstream_gene_variant,,ENST00000518394,;LMF2,upstream_gene_variant,,ENST00000504717,;	.	21	38	SUCCESS
ITGA4	3676	.	GRCh37	2	182388920	182388920	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	49	151	0	ENST00000397033.2:c.2192A>T	p.Asp731Val	p.D731V	ENST00000397033	NM_000885.4	731	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS42788.1	2192	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGATGTGA	NONE	.	.	hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179	.	.	ENSP00000380227	.	20/28	.	.	.	.	.	.	.	.	.	20/28	PASS	ENST00000397033	Transcript	.	.	ENSG00000115232	6140	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ITA4_HUMAN	ITGA4	HGNC	Q8IUA2_HUMAN,E7EP60_HUMAN	.	UPI000052D444	SNV	ITGA4,missense_variant,p.Asp731Val,ENST00000397033,;ITGA4,non_coding_transcript_exon_variant,,ENST00000468948,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476824,;	2622	151	129	SUCCESS
FAM171B	165215	.	GRCh37	2	187626928	187626928	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	34	82	0	ENST00000304698.5:c.1859G>A	p.Trp620Ter	p.W620*	ENST00000304698	NM_177454.3	620	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS33347.1	1859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTGGAGCC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2	.	.	ENSP00000304108	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000304698	Transcript	.	.	ENSG00000144369	29412	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F171B_HUMAN	FAM171B	HGNC	A8K122_HUMAN	.	UPI0000161631	SNV	FAM171B,stop_gained,p.Trp620Ter,ENST00000304698,;	2062	82	90	SUCCESS
RAPH1	65059	.	GRCh37	2	204354655	204354655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	46	113	0	ENST00000319170.5:c.384G>T	p.Leu128Phe	p.L128F	ENST00000319170	NM_213589.1	128	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS2359.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCAATGT	NONE	.	.	hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15	.	.	ENSP00000316543	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.177)	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,missense_variant,p.Leu128Phe,ENST00000418114,;RAPH1,missense_variant,p.Leu128Phe,ENST00000428637,;RAPH1,missense_variant,p.Leu128Phe,ENST00000423104,;RAPH1,missense_variant,p.Leu128Phe,ENST00000419464,;RAPH1,missense_variant,p.Leu128Phe,ENST00000374488,;RAPH1,missense_variant,p.Leu128Phe,ENST00000439222,;RAPH1,missense_variant,p.Leu128Phe,ENST00000374493,;RAPH1,missense_variant,p.Leu128Phe,ENST00000374489,;RAPH1,missense_variant,p.Leu128Phe,ENST00000453034,;RAPH1,missense_variant,p.Leu128Phe,ENST00000457812,;RAPH1,missense_variant,p.Leu128Phe,ENST00000308091,;RAPH1,missense_variant,p.Leu128Phe,ENST00000319170,;RAPH1,downstream_gene_variant,,ENST00000420371,;	684	113	110	SUCCESS
PIKFYVE	200576	.	GRCh37	2	209167004	209167004	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	60	0	ENST00000264380.4:c.1247G>T	p.Gly416Val	p.G416V	ENST00000264380	NM_015040.3	416	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS2382.1	1247	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGGACGTT	NONE	.	.	Superfamily_domains:SSF46785,SMART_domains:SM00049,Gene3D:1.10.10.10,Pfam_domain:PF00610,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353,PROSITE_profiles:PS50186	.	.	ENSP00000264380	.	10/42	.	.	.	.	.	.	.	.	.	10/42	PASS	ENST00000264380	Transcript	.	.	ENSG00000115020	23785	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	FYV1_HUMAN	PIKFYVE	HGNC	.	.	UPI0000366FD6	SNV	PIKFYVE,missense_variant,p.Gly416Val,ENST00000452564,;PIKFYVE,missense_variant,p.Gly416Val,ENST00000407449,;PIKFYVE,missense_variant,p.Gly416Val,ENST00000264380,;PIKFYVE,missense_variant,p.Gly330Val,ENST00000308862,;PIKFYVE,missense_variant,p.Gly319Val,ENST00000392202,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;PIKFYVE,non_coding_transcript_exon_variant,,ENST00000477200,;	1405	61	77	SUCCESS
UGT1A9	54600	.	GRCh37	2	234580748	234580748	+	synonymous_variant	Silent	SNP	T	T	C	rs762092554	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	73	0	ENST00000354728.4:c.168T>C	p.Val56=	p.V56=	ENST00000354728		56	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS2505.1	168	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTTGTAGT	NONE	.	.	hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756	.	.	ENSP00000346768	.	1/5	.	.	.	.	.	.	.	.	rs762092554,COSM477108	1/5	PASS	ENST00000354728	Transcript	.	.	ENSG00000241119	12541	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	UD19_HUMAN	UGT1A9	HGNC	Q5DSZ5_HUMAN,Q53E75_HUMAN,A9UKF4_HUMAN	.	UPI0000044213	SNV	UGT1A8,synonymous_variant,p.%3D,ENST00000609637,;UGT1A9,synonymous_variant,p.%3D,ENST00000354728,;UGT1A10,intron_variant,,ENST00000373445,;UGT1A10,intron_variant,,ENST00000344644,;UGT1A8,intron_variant,,ENST00000373450,;	250	73	69	SUCCESS
PLB1	151056	.	GRCh37	2	28771372	28771372	+	intron_variant	Intron	SNP	C	C	G	rs550187641	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	39	0	ENST00000327757.5:c.937-355C>G		p.*313*	ENST00000327757	NM_153021.4			0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS33168.1	.	RADIA|MUSE	.	CAGCTCTGTCC	NONE	by1000G	.	.	G:0	.	ENSP00000330442	G:0	.	.	.	.	.	.	.	.	.	rs550187641	.	PASS	ENST00000327757	Transcript	.	G:0.0002	ENSG00000163803	30041	.	.	MODIFIER	14/57	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,synonymous_variant,p.%3D,ENST00000436544,;PLB1,5_prime_UTR_variant,,ENST00000329020,;PLB1,intron_variant,,ENST00000327757,;PLB1,intron_variant,,ENST00000422425,;PLB1,intron_variant,,ENST00000404858,;	.	39	35	SUCCESS
KIAA1841	84542	.	GRCh37	2	61297534	61297534	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	88	0	ENST00000402291.1:c.49C>G	p.Gln17Glu	p.Q17E	ENST00000402291	NM_001129993.1	17	Caa/Gaa	0	.	.	.	.	.	G	Q/E	protein_coding	YES	CCDS46296.1	49	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAACCAAATG	NONE	.	.	hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946	.	.	ENSP00000385579	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated_low_confidence(1)	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,missense_variant,p.Gln17Glu,ENST00000453873,;KIAA1841,missense_variant,p.Gln17Glu,ENST00000402291,;KIAA1841,missense_variant,p.Gln17Glu,ENST00000356719,;KIAA1841,missense_variant,p.Gln17Glu,ENST00000295031,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000482513,;KIAA1841,upstream_gene_variant,,ENST00000483700,;KIAA1841,missense_variant,p.Gln17Glu,ENST00000453186,;	290	88	89	SUCCESS
KIAA1841	84542	.	GRCh37	2	61315871	61315871	+	intron_variant	Intron	SNP	G	G	A	rs530812940	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	15	0	ENST00000402291.1:c.1088+268G>A		p.*363*	ENST00000402291	NM_001129993.1			0	.	T:0.0061	.	T:0	.	A	.	protein_coding	YES	CCDS46296.1	.	MUTECT|MUSE	.	GGCTGGTCTCG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000385579	T:0	.	.	.	.	.	.	.	.	.	rs530812940	.	PASS	ENST00000402291	Transcript	.	T:0.0016	ENSG00000162929	29387	.	.	MODIFIER	10/21	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,intron_variant,,ENST00000453873,;KIAA1841,intron_variant,,ENST00000402291,;KIAA1841,intron_variant,,ENST00000356719,;KIAA1841,intron_variant,,ENST00000295031,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000482513,;KIAA1841,upstream_gene_variant,,ENST00000483509,;KIAA1841,intron_variant,,ENST00000453186,;	.	15	12	SUCCESS
APLF	200558	.	GRCh37	2	68753315	68753315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	125	232	0	ENST00000303795.4:c.745C>A	p.Gln249Lys	p.Q249K	ENST00000303795	NM_173545.2	249	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS1888.1	745	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACAAGAC	NONE	.	.	hmmpanther:PTHR21315:SF1,hmmpanther:PTHR21315	.	.	ENSP00000307004	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000303795	Transcript	.	.	ENSG00000169621	28724	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.11)	.	APLF_HUMAN	APLF	HGNC	.	.	UPI0000074578	SNV	APLF,missense_variant,p.Gln249Lys,ENST00000303795,;APLF,upstream_gene_variant,,ENST00000471727,;APLF,missense_variant,p.Gln249Lys,ENST00000445692,;APLF,3_prime_UTR_variant,,ENST00000529851,;AC130709.1,downstream_gene_variant,,ENST00000484779,;	916	232	253	SUCCESS
FAM162A	26355	.	GRCh37	3	122126169	122126169	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	63	0	ENST00000477892.1:c.305A>C	p.Lys102Thr	p.K102T	ENST00000477892	NM_014367.3	102	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS43139.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAAGATCA	NONE	.	.	Pfam_domain:PF06388,hmmpanther:PTHR13674:SF2,hmmpanther:PTHR13674	.	.	ENSP00000419088	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000477892	Transcript	.	.	ENSG00000114023	17865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	F162A_HUMAN	FAM162A	HGNC	.	.	UPI0000073F3F	SNV	FAM162A,missense_variant,p.Lys102Thr,ENST00000477892,;FAM162A,missense_variant,p.Lys92Thr,ENST00000232125,;FAM162A,missense_variant,p.Lys102Thr,ENST00000469967,;WDR5B,downstream_gene_variant,,ENST00000330689,;	389	63	63	SUCCESS
PLXNA1	5361	.	GRCh37	3	126726661	126726661	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769172331	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	18	39	0	ENST00000393409.2:c.2017G>T	p.Gly673Cys	p.G673C	ENST00000393409	NM_032242.3	673	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS33847.2	2017	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGGCTCC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF01437,SMART_domains:SM00423	.	.	ENSP00000377061	.	8/31	.	.	.	.	.	.	.	.	rs769172331	8/31	PASS	ENST00000393409	Transcript	.	.	ENSG00000114554	9099	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PLXA1_HUMAN	PLXNA1	HGNC	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN	.	UPI00001A7983	SNV	PLXNA1,missense_variant,p.Gly673Cys,ENST00000393409,;PLXNA1,missense_variant,p.Gly650Cys,ENST00000251772,;	2017	39	25	SUCCESS
DLEC1	9940	.	GRCh37	3	38080872	38080872	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	147	0	ENST00000308059.6:c.156T>A	p.Ser52=	p.S52=	ENST00000308059		52	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS2672.2	156	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCTGAGGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000308597	.	1/37	.	.	.	.	.	.	.	.	.	1/37	PASS	ENST00000308059	Transcript	.	.	ENSG00000008226	2899	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLEC1_HUMAN	DLEC1	HGNC	.	.	UPI00006EB134	SNV	DLEC1,synonymous_variant,p.%3D,ENST00000308059,;DLEC1,synonymous_variant,p.%3D,ENST00000346219,;DLEC1,synonymous_variant,p.%3D,ENST00000452631,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;	177	147	121	SUCCESS
NPRL2	10641	.	GRCh37	3	50388194	50388194	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	14	0	ENST00000232501.3:c.-111G>T		p.*37*	ENST00000232501	NM_006545.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2826.1	.	MUTECT|MUSE	.	GCACGCAAGCT	NONE	.	.	.	.	.	ENSP00000232501	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000232501	Transcript	.	.	ENSG00000114388	24969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPRL2_HUMAN	NPRL2	HGNC	F2Z3D4_HUMAN	.	UPI0000072BFE	SNV	NPRL2,5_prime_UTR_variant,,ENST00000232501,;CYB561D2,5_prime_UTR_variant,,ENST00000425346,;TMEM115,downstream_gene_variant,,ENST00000266025,;XXcos-LUCA11.5,upstream_gene_variant,,ENST00000606589,;ZMYND10,upstream_gene_variant,,ENST00000231749,;CYB561D2,upstream_gene_variant,,ENST00000424512,;CYB561D2,upstream_gene_variant,,ENST00000418577,;CYB561D2,upstream_gene_variant,,ENST00000232508,;CYB561D2,upstream_gene_variant,,ENST00000490926,;NPRL2,upstream_gene_variant,,ENST00000493465,;CYB561D2,upstream_gene_variant,,ENST00000419046,;NPRL2,5_prime_UTR_variant,,ENST00000448302,;NPRL2,5_prime_UTR_variant,,ENST00000418825,;NPRL2,5_prime_UTR_variant,,ENST00000433381,;NPRL2,non_coding_transcript_exon_variant,,ENST00000479512,;NPRL2,non_coding_transcript_exon_variant,,ENST00000487632,;NPRL2,non_coding_transcript_exon_variant,,ENST00000493907,;NPRL2,non_coding_transcript_exon_variant,,ENST00000476064,;NPRL2,non_coding_transcript_exon_variant,,ENST00000461020,;NPRL2,non_coding_transcript_exon_variant,,ENST00000469839,;NPRL2,non_coding_transcript_exon_variant,,ENST00000467294,;NPRL2,upstream_gene_variant,,ENST00000492805,;NPRL2,upstream_gene_variant,,ENST00000429366,;NPRL2,upstream_gene_variant,,ENST00000433999,;NPRL2,upstream_gene_variant,,ENST00000451194,;NPRL2,upstream_gene_variant,,ENST00000480296,;	329	14	12	SUCCESS
OXTR	5021	.	GRCh37	3	8794828	8794828	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	117	0	ENST00000316793.3:c.1005C>T	p.His335=	p.H335=	ENST00000316793	NM_000916.3	335	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS2570.1	1005	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGGTGGCC	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF19,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000324270	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000316793	Transcript	.	.	ENSG00000180914	8529	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OXYR_HUMAN	OXTR	HGNC	C9JQC4_HUMAN,C9JN09_HUMAN,B2R9L7_HUMAN	.	UPI000013FEA9	SNV	OXTR,synonymous_variant,p.%3D,ENST00000316793,;CAV3,intron_variant,,ENST00000472766,;	1630	117	109	SUCCESS
EPHA3	2042	.	GRCh37	3	89480381	89480381	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs762621864	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	86	0	ENST00000336596.2:c.2218A>T	p.Met740Leu	p.M740L	ENST00000336596	NM_005233.5	740	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS2922.1	2218	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACATGGGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000337451	.	13/17	.	.	.	.	.	.	.	.	rs762621864	13/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	tolerated(0.13)	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,missense_variant,p.Met740Leu,ENST00000494014,;EPHA3,missense_variant,p.Met740Leu,ENST00000336596,;	2443	86	99	SUCCESS
C4orf21	0	.	GRCh37	4	113508829	113508829	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs568750303	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	75	109	0	ENST00000505019.1:c.3384G>T	p.Arg1128Ser	p.R1128S	ENST00000505019	NM_018392.4	1128	agG/agT	0	.	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS3700.2	3384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCCTAGA	NONE	by1000G	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	T:0.001	.	ENSP00000424737	T:0	12/28	.	.	.	.	.	.	.	.	rs568750303	12/28	PASS	ENST00000505019	Transcript	.	T:0.0002	ENSG00000138658	25654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	T:0	tolerated(0.66)	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,missense_variant,p.Arg1128Ser,ENST00000505019,;C4orf21,downstream_gene_variant,,ENST00000309071,;C4orf21,missense_variant,p.Arg26Ser,ENST00000445413,;C4orf21,3_prime_UTR_variant,,ENST00000473015,;	3510	110	134	SUCCESS
QRFPR	84109	.	GRCh37	4	122250606	122250606	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	51	102	0	ENST00000394427.2:c.1159A>G	p.Lys387Glu	p.K387E	ENST00000394427	NM_198179.2	387	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS3719.1	1159	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTGGTTT	NONE	.	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65	.	.	ENSP00000377948	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.22)	.	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,missense_variant,p.Lys387Glu,ENST00000394427,;QRFPR,3_prime_UTR_variant,,ENST00000334383,;Y_RNA,upstream_gene_variant,,ENST00000384419,;QRFPR,3_prime_UTR_variant,,ENST00000507331,;	1571	102	118	SUCCESS
KIAA1109	84162	.	GRCh37	4	123179983	123179983	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	74	0	ENST00000264501.4:c.6747T>C	p.Ser2249=	p.S2249=	ENST00000264501		2249	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS43267.1	6747	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCTGCATT	NONE	.	.	hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640	.	.	ENSP00000264501	.	42/86	.	.	.	.	.	.	.	.	.	42/86	PASS	ENST00000264501	Transcript	.	.	ENSG00000138688	26953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1109_HUMAN	KIAA1109	HGNC	B3KN93_HUMAN	.	UPI0000DD87B4	SNV	KIAA1109,synonymous_variant,p.%3D,ENST00000455637,;KIAA1109,synonymous_variant,p.%3D,ENST00000446180,;KIAA1109,synonymous_variant,p.%3D,ENST00000264501,;KIAA1109,synonymous_variant,p.%3D,ENST00000388738,;KIAA1109,synonymous_variant,p.%3D,ENST00000419325,;	7120	74	70	SUCCESS
SCOC	60592	.	GRCh37	4	141294733	141294742	+	frameshift_variant	Frame_Shift_Del	DEL	GGCTGGGACG	GGCTGGGACG	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	GGCTGGGACG	GGCTGGGACG	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	58	0	ENST00000608372.1:c.45_54del	p.Gly18SerfsTer58	p.G18Sfs*58	ENST00000608372		15	GGCTGGGACGgg/gg	0	.	.	.	.	.	-	GWDG/X	protein_coding	YES	CCDS54806.1	43-52	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGAGCGGCTGGGACGGGATG	NONE	.	.	hmmpanther:PTHR21614	.	.	ENSP00000477352	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000608372	Transcript	.	.	ENSG00000153130	20335	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SCOC	HGNC	.	.	UPI0000E5AC43	deletion	SCOC,frameshift_variant,p.Gly18SerfsTer58,ENST00000506597,;SCOC,frameshift_variant,p.Gly18SerfsTer58,ENST00000608372,;SCOC,intron_variant,,ENST00000394203,;SCOC,intron_variant,,ENST00000506322,;SCOC,intron_variant,,ENST00000394205,;SCOC,intron_variant,,ENST00000512749,;SCOC,intron_variant,,ENST00000338517,;SCOC,upstream_gene_variant,,ENST00000510586,;SCOC,upstream_gene_variant,,ENST00000502535,;SCOC,upstream_gene_variant,,ENST00000394201,;RP11-425I13.3,upstream_gene_variant,,ENST00000609616,;RP11-425I13.3,upstream_gene_variant,,ENST00000512692,;RP11-425I13.3,upstream_gene_variant,,ENST00000608178,;	70-79	58	40	SUCCESS
DDX60L	91351	.	GRCh37	4	169327112	169327112	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	29	93	0	ENST00000260184.7:c.3202del	p.Gln1068LysfsTer2	p.Q1068Kfs*2	ENST00000260184	NM_001012967.1	1068	Caa/aa	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS47161.1	3202	INDELOCATOR*|VARSCANI*|PINDEL	.	TCACTTGGCCAT	NONE	.	.	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF56	.	.	ENSP00000260184	.	24/38	.	.	.	.	.	.	.	.	.	24/38	PASS	ENST00000260184	Transcript	.	.	ENSG00000181381	26429	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DDX6L_HUMAN	DDX60L	HGNC	D6RIU1_HUMAN,D6RBA2_HUMAN,D6RB62_HUMAN	.	UPI0001553B03	deletion	DDX60L,frameshift_variant,p.Gln1068LysfsTer2,ENST00000511577,;DDX60L,frameshift_variant,p.Gln1068LysfsTer2,ENST00000505890,;DDX60L,frameshift_variant,p.Gln764LysfsTer2,ENST00000505863,;DDX60L,frameshift_variant,p.Gln1068LysfsTer2,ENST00000260184,;DDX60L,upstream_gene_variant,,ENST00000514580,;DDX60L,upstream_gene_variant,,ENST00000503190,;	3423	93	108	SUCCESS
TBC1D1	23216	.	GRCh37	4	38138875	38138875	+	synonymous_variant	Silent	SNP	G	G	A	rs375379532	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	40	101	0	ENST00000261439.4:c.3426G>A	p.Thr1142=	p.T1142=	ENST00000261439	NM_015173.3	1142	acG/acA	0	A:0.0002	A:0.0008	.	A:0	.	A	T	protein_coding	YES	CCDS33972.1	3426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGTGGA	NONE	byCluster|by1000G	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF204	A:0	A:0.0001	ENSP00000261439	A:0	20/20	.	.	.	.	.	.	.	.	rs375379532	20/20	PASS	ENST00000261439	Transcript	.	A:0.0002	ENSG00000065882	11578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	TBCD1_HUMAN	TBC1D1	HGNC	H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN	.	UPI0000367235	SNV	TBC1D1,synonymous_variant,p.%3D,ENST00000261439,;TBC1D1,synonymous_variant,p.%3D,ENST00000508802,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000401554,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000407365,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000405444,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000406664,;TBC1D1,3_prime_UTR_variant,,ENST00000510573,;TBC1D1,downstream_gene_variant,,ENST00000492180,;	3781	101	127	SUCCESS
PHOX2B	8929	.	GRCh37	4	41748004	41748004	+	synonymous_variant	Silent	SNP	C	C	T	rs543135182	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	68	94	0	ENST00000226382.2:c.765G>A	p.Ala255=	p.A255=	ENST00000226382	NM_003924.3	255	gcG/gcA	0	.	T:0	.	T:0	.	T	A	protein_coding	YES	CCDS3463.1	765	SOMATICSNIPER|VARSCANS	.	GCTGCCGCTGC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301	T:0	.	ENSP00000226382	T:0.001	3/3	.	.	.	.	.	.	.	.	rs543135182	3/3	PASS	ENST00000226382	Transcript	1	T:0.0004	ENSG00000109132	9143	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.001	.	.	PHX2B_HUMAN	PHOX2B	HGNC	.	.	UPI000000D936	SNV	PHOX2B,synonymous_variant,p.%3D,ENST00000226382,;PHOX2B,downstream_gene_variant,,ENST00000510424,;RP11-227F19.2,upstream_gene_variant,,ENST00000510602,;RP11-227F19.1,upstream_gene_variant,,ENST00000508038,;	1125	94	138	SUCCESS
PARM1	25849	.	GRCh37	4	75938355	75938355	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	37	0	ENST00000307428.7:c.764G>T	p.Ser255Ile	p.S255I	ENST00000307428	NM_015393.3	255	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS47077.1	764	MUTECT|MUSE	.	ATTAAGTTCAG	NONE	.	.	.	.	.	ENSP00000370224	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000307428	Transcript	.	.	ENSG00000169116	24536	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PARM1_HUMAN	PARM1	HGNC	.	.	UPI000004457B	SNV	PARM1,missense_variant,p.Ser255Ile,ENST00000307428,;PARM1,intron_variant,,ENST00000513238,;RP11-44F21.2,intron_variant,,ENST00000513770,;	976	37	35	SUCCESS
FRAS1	80144	.	GRCh37	4	79350344	79350344	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	47	0	ENST00000264895.6:c.4807C>A	p.Arg1603=	p.R1603=	ENST00000264895	NM_025074.6	1603	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS54771.1	4807	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCACGGCTG	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	36/74	.	.	.	.	.	.	.	.	.	36/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,synonymous_variant,p.%3D,ENST00000510944,;FRAS1,synonymous_variant,p.%3D,ENST00000325942,;FRAS1,synonymous_variant,p.%3D,ENST00000264895,;	5247	47	47	SUCCESS
FRAS1	80144	.	GRCh37	4	79432632	79432632	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1174411329	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	47	102	0	ENST00000264895.6:c.9985G>A	p.Asp3329Asn	p.D3329N	ENST00000264895	NM_025074.6	3329	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54771.1	9985	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGGATGTC	NONE	.	.	hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	.	.	ENSP00000264895	.	64/74	.	.	.	.	.	.	.	.	COSM588419,COSM588420	64/74	PASS	ENST00000264895	Transcript	1	.	ENSG00000138759	19185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.628)	.	.	1,1	FRAS1_HUMAN	FRAS1	HGNC	Q69YV4_HUMAN,Q4W596_HUMAN	.	UPI000021D4C2	SNV	FRAS1,missense_variant,p.Asp1558Asn,ENST00000512123,;FRAS1,missense_variant,p.Asp3329Asn,ENST00000264895,;	10425	102	110	SUCCESS
CTNNA1	1495	.	GRCh37	5	138260300	138260300	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	52	143	0	ENST00000302763.7:c.1648G>T	p.Ala550Ser	p.A550S	ENST00000302763	NM_001903.2	550	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS34243.1	1648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAGCCCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220	.	.	ENSP00000304669	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000302763	Transcript	.	.	ENSG00000044115	2509	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.39)	.	CTNA1_HUMAN	CTNNA1	HGNC	F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN	.	UPI000012862C	SNV	CTNNA1,missense_variant,p.Ala180Ser,ENST00000540387,;CTNNA1,missense_variant,p.Ala447Ser,ENST00000355078,;CTNNA1,missense_variant,p.Ala550Ser,ENST00000518825,;CTNNA1,missense_variant,p.Ala550Ser,ENST00000302763,;CTNNA1,3_prime_UTR_variant,,ENST00000521368,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000521387,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000519489,;	1738	143	105	SUCCESS
PCDHA6	56142	.	GRCh37	5	140208117	140208117	+	synonymous_variant	Silent	SNP	G	G	A	rs1239720499	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	59	140	0	ENST00000529310.1:c.441G>A	p.Leu147=	p.L147=	ENST00000529310	NM_018909.2	147	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47281.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGCCAGA	BUFFER|p.S150S|c.450T>A|3,BUFFER|p.S150S|c.450T>A|3	.	.	hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000433378	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000529310	Transcript	.	.	ENSG00000081842	8672	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA6_HUMAN	PCDHA6	HGNC	.	.	UPI00001273CE	SNV	PCDHA6,synonymous_variant,p.%3D,ENST00000527624,;PCDHA6,synonymous_variant,p.%3D,ENST00000529310,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA5,downstream_gene_variant,,ENST00000378126,;	555	140	121	SUCCESS
GABRG2	2566	.	GRCh37	5	161576316	161576316	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	26	48	0	ENST00000361925.4:c.1125C>G	p.Asn375Lys	p.N375K	ENST00000361925		375	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS47333.1	1245	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACCCTGT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF90112,Pfam_domain:PF02932,hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945	.	.	ENSP00000410732	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000414552	Transcript	1	.	ENSG00000113327	4087	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.615)	.	tolerated(0.37)	.	GBRG2_HUMAN	GABRG2	HGNC	.	.	UPI00017503BD	SNV	GABRG2,missense_variant,p.Asn280Lys,ENST00000393933,;GABRG2,missense_variant,p.Asn375Lys,ENST00000361925,;GABRG2,missense_variant,p.Asn375Lys,ENST00000356592,;GABRG2,missense_variant,p.Asn415Lys,ENST00000414552,;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	1470	48	68	SUCCESS
RANBP17	64901	.	GRCh37	5	170319441	170319441	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	47	116	0	ENST00000523189.1:c.307G>T	p.Val103Phe	p.V103F	ENST00000523189	NM_022897.3	103	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS34287.1	307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGTCATC	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	.	.	ENSP00000427975	.	4/28	.	.	.	.	.	.	.	.	.	4/28	PASS	ENST00000523189	Transcript	.	.	ENSG00000204764	14428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	RBP17_HUMAN	RANBP17	HGNC	Q546R4_HUMAN,E5RHX1_HUMAN	.	UPI000000107C	SNV	RANBP17,missense_variant,p.Val21Phe,ENST00000519944,;RANBP17,missense_variant,p.Val103Phe,ENST00000523189,;RANBP17,missense_variant,p.Val103Phe,ENST00000519949,;RANBP17,missense_variant,p.Val103Phe,ENST00000389118,;RANBP17,missense_variant,p.Val103Phe,ENST00000519256,;RANBP17,missense_variant,p.Val103Phe,ENST00000522533,;RANBP17,missense_variant,p.Val103Phe,ENST00000522066,;RANBP17,missense_variant,p.Val103Phe,ENST00000520864,;RANBP17,non_coding_transcript_exon_variant,,ENST00000523727,;RANBP17,non_coding_transcript_exon_variant,,ENST00000443155,;RANBP17,non_coding_transcript_exon_variant,,ENST00000519130,;CTC-455F18.3,upstream_gene_variant,,ENST00000522096,;	471	116	101	SUCCESS
CDH10	1008	.	GRCh37	5	24537662	24537662	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	43	87	0	ENST00000264463.4:c.353A>T	p.Asp118Val	p.D118V	ENST00000264463	NM_006727.3	118	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS3892.1	353	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTATCAATT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000264463	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000264463	Transcript	.	.	ENSG00000040731	1749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	CAD10_HUMAN	CDH10	HGNC	.	.	UPI0000167B7B	SNV	CDH10,missense_variant,p.Asp118Val,ENST00000264463,;CDH10,missense_variant,p.Asp118Val,ENST00000510477,;	861	87	79	SUCCESS
ADAMTS16	170690	.	GRCh37	5	5235288	5235288	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	50	106	0	ENST00000274181.7:c.2012C>G	p.Thr671Ser	p.T671S	ENST00000274181	NM_139056.2	671	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS43299.1	2012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACACTCAAG	NONE	.	.	hmmpanther:PTHR13723:SF140,hmmpanther:PTHR13723	.	.	ENSP00000274181	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000274181	Transcript	.	.	ENSG00000145536	17108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.01)	.	ATS16_HUMAN	ADAMTS16	HGNC	B2G3Q1_HUMAN	.	UPI00004572CA	SNV	ADAMTS16,missense_variant,p.Thr671Ser,ENST00000274181,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	2150	106	104	SUCCESS
CMYA5	202333	.	GRCh37	5	79032250	79032250	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1170574955	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	82	0	ENST00000446378.2:c.7662G>T	p.Gln2554His	p.Q2554H	ENST00000446378	NM_153610.3	2554	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS47238.1	7662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAGCAGGA	NONE	.	.	hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	.	.	ENSP00000394770	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000446378	Transcript	.	.	ENSG00000164309	14305	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,missense_variant,p.Gln2554His,ENST00000446378,;CMYA5,upstream_gene_variant,,ENST00000506603,;	7693	82	92	SUCCESS
HSF2	3298	.	GRCh37	6	122720756	122720756	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs372933458	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	10	0	ENST00000368455.4:c.-127G>T		p.*43*	ENST00000368455	NM_004506.3			0	.	T:0.0015	.	T:0	.	T	.	protein_coding	YES	CCDS5124.1	.	MUTECT|MUSE	.	GGTTGGGGGGG	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000357440	T:0	1/13	.	.	.	.	.	.	.	.	rs372933458	1/13	PASS	ENST00000368455	Transcript	.	T:0.0004	ENSG00000025156	5225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	HSF2_HUMAN	HSF2	HGNC	.	.	UPI000012CCE8	SNV	HSF2,5_prime_UTR_variant,,ENST00000452194,;HSF2,5_prime_UTR_variant,,ENST00000368455,;	66	10	14	SUCCESS
PRR3	80742	.	GRCh37	6	30525095	30525095	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	43	0	ENST00000376560.3:c.-27C>A		p.*9*	ENST00000376560	NM_025263.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43440.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATCCCGCT	NONE	.	.	.	.	.	ENSP00000365744	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000376560	Transcript	.	.	ENSG00000204576	21149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR3_HUMAN	PRR3	HGNC	Q96QB9_HUMAN,A6NDA2_HUMAN	.	UPI000000D739	SNV	PRR3,5_prime_UTR_variant,,ENST00000376560,;PRR3,5_prime_UTR_variant,,ENST00000376557,;GNL1,upstream_gene_variant,,ENST00000433809,;GNL1,upstream_gene_variant,,ENST00000376621,;PRR3,non_coding_transcript_exon_variant,,ENST00000481741,;PRR3,non_coding_transcript_exon_variant,,ENST00000498336,;GNL1,upstream_gene_variant,,ENST00000487166,;PRR3,upstream_gene_variant,,ENST00000491173,;GNL1,upstream_gene_variant,,ENST00000462708,;PRR3,upstream_gene_variant,,ENST00000470703,;	433	43	48	SUCCESS
SCUBE3	222663	.	GRCh37	6	35211877	35211877	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs748893704	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	71	0	ENST00000274938.7:c.2209G>A	p.Ala737Thr	p.A737T	ENST00000274938	NM_152753.2	737	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4800.1	2209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGCCATT	NONE	byFrequency	.	hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2,Pfam_domain:PF07699,Superfamily_domains:SSF57184	.	.	ENSP00000274938	.	17/22	.	.	.	.	.	.	.	.	rs748893704	17/22	PASS	ENST00000274938	Transcript	.	.	ENSG00000146197	13655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	tolerated(0.18)	.	SCUB3_HUMAN	SCUBE3	HGNC	Q7Z3I8_HUMAN	.	UPI0000074423	SNV	SCUBE3,missense_variant,p.Ala753Thr,ENST00000394681,;SCUBE3,missense_variant,p.Ala737Thr,ENST00000274938,;	2209	71	62	SUCCESS
MOCS1	4337	.	GRCh37	6	39876849	39876849	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149586823	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	32	65	0	ENST00000340692.5:c.1132C>T	p.Arg378Trp	p.R378W	ENST00000340692		378	Cgg/Tgg	0	C:0	.	.	.	.	A	R/W	protein_coding	YES	CCDS4846.1	1132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGGTTCT	NONE	byCluster	.	HAMAP:MF_01225_B,hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960,TIGRFAM_domain:TIGR02666	.	C:0.0007	ENSP00000362282	.	9/10	.	.	.	.	.	.	.	.	rs149586823,COSM1079056,COSM1079057	9/10	PASS	ENST00000373186	Transcript	.	.	ENSG00000124615	7190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1	MOCS1_HUMAN	MOCS1	HGNC	Q9NP27_HUMAN	.	UPI000006FA21	SNV	MOCS1,missense_variant,p.Arg378Trp,ENST00000425303,;MOCS1,missense_variant,p.Arg378Trp,ENST00000373188,;MOCS1,missense_variant,p.Arg349Trp,ENST00000373175,;MOCS1,missense_variant,p.Arg378Trp,ENST00000340692,;MOCS1,missense_variant,p.Arg349Trp,ENST00000432280,;MOCS1,missense_variant,p.Arg378Trp,ENST00000373186,;MOCS1,intron_variant,,ENST00000373195,;MOCS1,intron_variant,,ENST00000308559,;DAAM2,downstream_gene_variant,,ENST00000538976,;DAAM2,downstream_gene_variant,,ENST00000274867,;DAAM2,downstream_gene_variant,,ENST00000398904,;MOCS1,intron_variant,,ENST00000373181,;MOCS1,downstream_gene_variant,,ENST00000473742,;	1270	65	58	SUCCESS
COL9A1	1297	.	GRCh37	6	70981392	70981392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	130	233	2	ENST00000357250.6:c.1109G>T	p.Gly370Val	p.G370V	ENST00000357250	NM_001851.4	370	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4971.1	1109	RADIA|SOMATICSNIPER|VARSCANS	.	GGAGTCCTGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF454,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000349790	.	14/38	.	.	.	.	.	.	.	.	.	14/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,missense_variant,p.Gly127Val,ENST00000370499,;COL9A1,missense_variant,p.Gly127Val,ENST00000320755,;COL9A1,missense_variant,p.Gly370Val,ENST00000357250,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,downstream_gene_variant,,ENST00000470652,;	1268	235	277	SUCCESS
PHIP	55023	.	GRCh37	6	79692616	79692616	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	18	0	ENST00000275034.4:c.2756A>T	p.Glu919Val	p.E919V	ENST00000275034	NM_017934.5	919	gAa/gTa	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4987.1	2756	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTCTTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266	.	.	ENSP00000275034	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	tolerated(0.19)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Glu919Val,ENST00000275034,;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	2924	18	18	SUCCESS
PHIP	55023	.	GRCh37	6	79727210	79727210	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	91	208	0	ENST00000275034.4:c.1085A>T	p.Glu362Val	p.E362V	ENST00000275034	NM_017934.5	362	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS4987.1	1085	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTCCAAT	NONE	.	.	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR16266:SF4,hmmpanther:PTHR16266,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000275034	.	11/40	.	.	.	.	.	.	.	.	.	11/40	PASS	ENST00000275034	Transcript	.	.	ENSG00000146247	15673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	PHIP_HUMAN	PHIP	HGNC	.	.	UPI000013DA40	SNV	PHIP,missense_variant,p.Glu362Val,ENST00000275034,;	1253	208	226	SUCCESS
RIPPLY2	134701	.	GRCh37	6	84563041	84563041	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs567163583	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	26	0	ENST00000369689.1:c.-95G>T		p.*32*	ENST00000369689	NM_001009994.2			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS34493.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCGAGG	NONE	by1000G	.	.	A:0	.	ENSP00000358703	A:0	1/4	.	.	.	.	.	.	.	.	rs567163583	1/4	PASS	ENST00000369689	Transcript	.	A:0.0002	ENSG00000203877	21390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	RIPP2_HUMAN	RIPPLY2	HGNC	.	.	UPI00001604A2	SNV	RIPPLY2,5_prime_UTR_variant,,ENST00000369689,;RIPPLY2,upstream_gene_variant,,ENST00000369687,;	57	26	26	SUCCESS
PUS7	54517	.	GRCh37	7	105098324	105098326	+	inframe_deletion	In_Frame_Del	DEL	AGT	AGT	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	AGT	AGT	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	77	0	ENST00000356362.2:c.1897_1899del	p.Thr633del	p.T633del	ENST00000356362	NM_019042.3	633	ACT/-	0	.	.	.	.	.	-	T/-	protein_coding	YES	CCDS34725.1	1897-1899	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCGTAAGTAGAAG	NONE	.	.	hmmpanther:PTHR13326,TIGRFAM_domain:TIGR00094,Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,Superfamily_domains:SSF55120	.	.	ENSP00000348722	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000356362	Transcript	.	.	ENSG00000091127	26033	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PUS7_HUMAN	PUS7	HGNC	A3R6R7_HUMAN	.	UPI00001D483E	deletion	PUS7,inframe_deletion,p.Thr633del,ENST00000356362,;PUS7,inframe_deletion,p.Thr633del,ENST00000469408,;PUS7,intron_variant,,ENST00000481939,;	2112-2114	77	81	SUCCESS
KIAA1549	57670	.	GRCh37	7	138552730	138552730	+	synonymous_variant	Silent	SNP	G	G	A	rs756943187	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	39	0	ENST00000422774.1:c.4920C>T	p.Ile1640=	p.I1640=	ENST00000422774		1640	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS56513.1	4920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCGATGTA	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	.	.	ENSP00000416040	.	15/20	.	.	.	.	.	.	.	.	rs756943187	15/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,synonymous_variant,p.%3D,ENST00000422774,;KIAA1549,synonymous_variant,p.%3D,ENST00000242365,;KIAA1549,synonymous_variant,p.%3D,ENST00000440172,;	4969	39	38	SUCCESS
C7orf33	202865	.	GRCh37	7	148288121	148288121	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142396932	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	32	107	0	ENST00000307003.2:c.104G>A	p.Arg35Gln	p.R35Q	ENST00000307003	NM_145304.2	35	cGg/cAg	0	A:0	.	.	.	.	A	R/Q	protein_coding	YES	CCDS5890.1	104	RADIA|MUTECT|MUSE	.	GCGCCGGATTG	NONE	byCluster	.	.	.	A:0.0001	ENSP00000304071	.	1/3	.	.	.	.	.	.	.	.	rs142396932	1/3	PASS	ENST00000307003	Transcript	.	.	ENSG00000170279	21724	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.417)	.	tolerated_low_confidence(0.27)	.	CG033_HUMAN	C7orf33	HGNC	.	.	UPI00000707BF	SNV	C7orf33,missense_variant,p.Arg35Gln,ENST00000307003,;	465	107	85	SUCCESS
TWISTNB	0	.	GRCh37	7	19748398	19748398	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	29	46	0	ENST00000222567.5:c.242G>A	p.Arg81His	p.R81H	ENST00000222567	NM_001002926.1	81	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34606.1	242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAGCGAAGG	NONE	.	.	hmmpanther:PTHR12709,hmmpanther:PTHR12709:SF5,Pfam_domain:PF03876	.	.	ENSP00000222567	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000222567	Transcript	.	.	ENSG00000105849	18027	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	RPA43_HUMAN	TWISTNB	HGNC	.	.	UPI000006CEF4	SNV	TWISTNB,missense_variant,p.Arg81His,ENST00000222567,;MIR3146,upstream_gene_variant,,ENST00000580367,;	313	46	52	SUCCESS
ABCB5	340273	.	GRCh37	7	20698196	20698196	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	27	62	0	ENST00000404938.2:c.1604T>G	p.Ile535Ser	p.I535S	ENST00000404938	NM_001163941.1	535	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS55090.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAATTGCTC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,PROSITE_patterns:PS00211,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000384881	.	14/28	.	.	.	.	.	.	.	.	COSM600704,COSM600703,COSM1144505	14/28	PASS	ENST00000404938	Transcript	.	.	ENSG00000004846	46	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.993)	.	deleterious(0)	1,1,1	ABCB5_HUMAN	ABCB5	HGNC	.	.	UPI000173A253	SNV	ABCB5,missense_variant,p.Ile90Ser,ENST00000443026,;ABCB5,missense_variant,p.Ile90Ser,ENST00000258738,;ABCB5,missense_variant,p.Ile535Ser,ENST00000404938,;ABCB5,missense_variant,p.Ile90Ser,ENST00000406935,;	2256	62	63	SUCCESS
HOXA-AS3	100133311	.	GRCh37	7	27186824	27186824	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	16	0	ENST00000518947.2:n.43C>A		p.*15*	ENST00000518947				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5407.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATCCTTTC	NONE	.	.	.	.	.	ENSP00000222728	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222728	Transcript	.	.	ENSG00000106006	5107	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA6_HUMAN	HOXA6	HGNC	.	.	UPI000012CF32	SNV	HOXA6,intron_variant,,ENST00000222728,;HOXA5,upstream_gene_variant,,ENST00000222726,;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,intron_variant,,ENST00000521478,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	.	16	15	SUCCESS
TBX20	57057	.	GRCh37	7	35242082	35242082	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	50	111	1	ENST00000408931.3:c.1304G>A	p.Gly435Glu	p.G435E	ENST00000408931	NM_001077653.2	435	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS43568.1	1304	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTCCTTGA	NONE	.	.	hmmpanther:PTHR11267	.	.	ENSP00000386170	.	8/8	.	.	.	.	.	.	.	.	COSM1450507	8/8	PASS	ENST00000408931	Transcript	.	.	ENSG00000164532	11598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.767)	.	deleterious_low_confidence(0)	1	TBX20_HUMAN	TBX20	HGNC	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN	.	UPI00004B23D3	SNV	TBX20,missense_variant,p.Gly435Glu,ENST00000408931,;	1831	112	141	SUCCESS
NACAD	23148	.	GRCh37	7	45122346	45122346	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	27	78	0	ENST00000490531.2:c.3433A>G	p.Thr1145Ala	p.T1145A	ENST00000490531	NM_001146334.1	1145	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS47582.1	3433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTGGCCA	NONE	.	.	hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713	.	.	ENSP00000420477	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000490531	Transcript	.	.	ENSG00000136274	22196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.29)	.	NACAD_HUMAN	NACAD	HGNC	.	.	UPI00001D747D	SNV	NACAD,missense_variant,p.Thr1145Ala,ENST00000490531,;NACAD,upstream_gene_variant,,ENST00000460409,;	3453	78	77	SUCCESS
ASL	435	.	GRCh37	7	65557597	65557597	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	55	0	ENST00000304874.9:c.1197G>T	p.Glu399Asp	p.E399D	ENST00000304874	NM_000048.3	399	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS5531.1	1197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAGACCAA	NONE	.	.	HAMAP:MF_00006,hmmpanther:PTHR11444,hmmpanther:PTHR11444:SF3,TIGRFAM_domain:TIGR00838,Gene3D:1.10.40.30,Pfam_domain:PF14698,Superfamily_domains:SSF48557	.	.	ENSP00000307188	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000304874	Transcript	.	.	ENSG00000126522	746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0.02)	.	ARLY_HUMAN	ASL	HGNC	.	.	UPI0000001634	SNV	ASL,missense_variant,p.Glu373Asp,ENST00000380839,;ASL,missense_variant,p.Glu379Asp,ENST00000395331,;ASL,missense_variant,p.Glu399Asp,ENST00000304874,;AC068533.7,missense_variant,p.Glu168Asp,ENST00000450043,;ASL,missense_variant,p.Glu399Asp,ENST00000395332,;ASL,downstream_gene_variant,,ENST00000362000,;ASL,non_coding_transcript_exon_variant,,ENST00000464970,;ASL,intron_variant,,ENST00000488343,;ASL,non_coding_transcript_exon_variant,,ENST00000493708,;	1299	55	49	SUCCESS
SRRM3	222183	.	GRCh37	7	75864559	75864559	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	18	0	ENST00000326382.8:c.175C>A	p.Arg59Ser	p.R59S	ENST00000326382	NM_001110199.1	59	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	.	175	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAGCGCAAG	NONE	.	.	hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF13,Pfam_domain:PF08312	.	.	ENSP00000325298	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000326382	Transcript	.	.	ENSG00000177679	26729	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	SRRM3_HUMAN	SRRM3	HGNC	.	.	UPI0000E5ADAA	SNV	SRRM3,missense_variant,p.Arg59Ser,ENST00000326382,;SRRM3,missense_variant,p.Arg59Ser,ENST00000388802,;SRRM3,non_coding_transcript_exon_variant,,ENST00000479294,;	382	18	14	SUCCESS
DLX5	1749	.	GRCh37	7	96653687	96653688	+	frameshift_variant	Frame_Shift_Del	DEL	GG	GG	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	110	44	93	0	ENST00000222598.4:c.248_249delinsA	p.Ser83Ter	p.S83*	ENST00000222598	NM_005221.5	83	tCC/tA	0	.	.	.	.	.	T	S/X	protein_coding	YES	CCDS5647.1	248-249	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CCCGGCGGAGCCG	NONE	.	.	Pfam_domain:PF12413,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF31	.	.	ENSP00000222598	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000222598	Transcript	.	.	ENSG00000105880	2918	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLX5_HUMAN	DLX5	HGNC	Q53Y73_HUMAN	.	UPI00001294B7	substitution	DLX5,frameshift_variant,p.Ser83Ter,ENST00000222598,;DLX5,frameshift_variant,p.Ser83Ter,ENST00000486603,;DLX5,non_coding_transcript_exon_variant,,ENST00000493764,;	722-723	93	154	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110417293	110417293	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs761631259	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	34	188	0	ENST00000378402.5:c.1603C>A	p.Pro535Thr	p.P535T	ENST00000378402	NM_177531.4	535	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS47911.1	1603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCCATGT	NONE	.	.	.	.	.	ENSP00000367655	.	16/78	.	.	.	.	.	.	.	.	rs761631259	16/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	tolerated(0.07)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Pro535Thr,ENST00000378402,;	1707	188	123	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110417294	110417294	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	35	189	0	ENST00000378402.5:c.1604C>A	p.Pro535Gln	p.P535Q	ENST00000378402	NM_177531.4	535	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS47911.1	1604	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCATGTG	NONE	.	.	.	.	.	ENSP00000367655	.	16/78	.	.	.	.	.	.	.	.	COSM387926	16/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.798)	.	tolerated(0.05)	1	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Pro535Gln,ENST00000378402,;	1708	189	123	SUCCESS
AARD	441376	.	GRCh37	8	117954838	117954838	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	29	85	0	ENST00000378279.3:c.366A>C	p.Leu122Phe	p.L122F	ENST00000378279	NM_001025357.2	122	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS34935.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTACTGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32289:SF2,hmmpanther:PTHR32289	.	.	ENSP00000367528	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378279	Transcript	.	.	ENSG00000205002	33842	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0.01)	.	AARD_HUMAN	AARD	HGNC	.	.	UPI0000419472	SNV	AARD,missense_variant,p.Leu122Phe,ENST00000378279,;AARD,non_coding_transcript_exon_variant,,ENST00000523536,;	411	85	50	SUCCESS
DENND3	22898	.	GRCh37	8	142166010	142166010	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	29	58	0	ENST00000262585.2:c.897G>T	p.Thr299=	p.T299=	ENST00000262585	NM_014957.2	299	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34947.1	897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACGGACGA	BUFFER|p.T299M|c.896C>T|3	.	.	hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	.	.	ENSP00000262585	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000262585	Transcript	.	.	ENSG00000105339	29134	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEND3_HUMAN	DENND3	HGNC	B3KRG7_HUMAN	.	UPI00003CEFBA	SNV	DENND3,synonymous_variant,p.%3D,ENST00000519811,;DENND3,synonymous_variant,p.%3D,ENST00000424248,;DENND3,synonymous_variant,p.%3D,ENST00000262585,;DENND3,synonymous_variant,p.%3D,ENST00000518668,;DENND3,downstream_gene_variant,,ENST00000520986,;DENND3,non_coding_transcript_exon_variant,,ENST00000521477,;DENND3,upstream_gene_variant,,ENST00000520482,;	1175	58	56	SUCCESS
PREX2	80243	.	GRCh37	8	69032459	69032459	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	88	0	ENST00000288368.4:c.3533G>C	p.Gly1178Ala	p.G1178A	ENST00000288368	NM_024870.2	1178	gGg/gCg	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS6201.1	3533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGGCAGG	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	29/40	.	.	.	.	.	.	.	.	COSM1287373,COSM3650512	29/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.996)	.	deleterious(0)	1,1	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Gly1178Ala,ENST00000288368,;	3810	88	69	SUCCESS
CNGB3	54714	.	GRCh37	8	87616352	87616352	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	79	0	ENST00000320005.5:c.1750C>A	p.Leu584Met	p.L584M	ENST00000320005	NM_019098.4	584	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS6244.1	1750	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGAGTAA	NONE	.	.	PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF385,hmmpanther:PTHR10217,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206	.	.	ENSP00000316605	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,missense_variant,p.Leu584Met,ENST00000320005,;	1798	79	71	SUCCESS
GRIN3A	116443	.	GRCh37	9	104449360	104449360	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1348195697	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	7	126	0	ENST00000361820.3:c.822G>A	p.Trp274Ter	p.W274*	ENST00000361820	NM_133445.2	274	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS6758.1	822	MUTECT|MUSE	.	ATGTTCCAGTC	NONE	.	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	.	.	ENSP00000355155	.	2/9	.	.	.	.	.	.	.	.	COSM3847216	2/9	PASS	ENST00000361820	Transcript	.	.	ENSG00000198785	16767	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	NMD3A_HUMAN	GRIN3A	HGNC	.	.	UPI0000367661	SNV	GRIN3A,stop_gained,p.Trp274Ter,ENST00000361820,;	1423	126	140	SUCCESS
CYLC2	1539	.	GRCh37	9	105767953	105767953	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs373184793	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	91	236	0	ENST00000374798.3:c.1040G>A	p.Gly347Asp	p.G347D	ENST00000374798	NM_001340.3	347	gGc/gAc	0	A:0	A:0	.	A:0.0014	.	A	G/D	protein_coding	YES	CCDS35085.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGGCAAGT	NONE	byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000420256	A:0	5/8	.	.	.	.	.	.	.	.	rs373184793	5/8	PASS	ENST00000374798	Transcript	.	A:0.0002	ENSG00000155833	2583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	A:0	deleterious_low_confidence(0)	.	CYLC2_HUMAN	CYLC2	HGNC	.	.	UPI0000128C36	SNV	CYLC2,missense_variant,p.Gly347Asp,ENST00000374798,;CYLC2,missense_variant,p.Gly347Asp,ENST00000487798,;	1110	236	207	SUCCESS
DDX31	64794	.	GRCh37	9	135505734	135505735	+	frameshift_variant	Frame_Shift_Del	DEL	CC	CC	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	CC	CC	.	.	.	.	.	.	.	.	.	.	.	.	.	73	40	79	0	ENST00000372153.1:c.1837_1838delinsT	p.Gly613TyrfsTer44	p.G613Yfs*44	ENST00000372153		613	GGa/Ta	0	.	.	.	.	.	A	R/X	protein_coding	YES	CCDS6951.1	1862-1863	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GCCAATCCGGGCG	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF89,PROSITE_profiles:PS51194	.	.	ENSP00000361232	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000372159	Transcript	.	.	ENSG00000125485	16715	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX31_HUMAN	DDX31	HGNC	.	.	UPI00000736CA	substitution	DDX31,frameshift_variant,p.Arg621LeufsTer42,ENST00000372159,;DDX31,frameshift_variant,p.Arg492LeufsTer42,ENST00000438527,;DDX31,frameshift_variant,p.Gly613TyrfsTer44,ENST00000372153,;	2014-2015	79	113	SUCCESS
VPS13A	23230	.	GRCh37	9	79952253	79952253	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	4	113	0	ENST00000360280.3:c.6178G>A	p.Gly2060Ser	p.G2060S	ENST00000360280	NM_033305.2	2060	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS6655.1	6178	MUTECT|MUSE	.	ATGATGGTGCT	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	47/72	.	.	.	.	.	.	.	.	.	47/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.022)	.	tolerated(0.56)	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,missense_variant,p.Gly2060Ser,ENST00000357409,;VPS13A,missense_variant,p.Gly2060Ser,ENST00000376634,;VPS13A,missense_variant,p.Gly2021Ser,ENST00000376636,;VPS13A,missense_variant,p.Gly313Ser,ENST00000419472,;VPS13A,missense_variant,p.Gly2060Ser,ENST00000360280,;VPS13A,upstream_gene_variant,,ENST00000539950,;	6438	113	99	SUCCESS
PTCH1	5727	.	GRCh37	9	98232184	98232184	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	28	83	0	ENST00000331920.6:c.1758del	p.Met587TrpfsTer36	p.M587Wfs*36	ENST00000331920	NM_000264.3	586	gcC/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS6714.1	1758	INDELOCATOR*|VARSCANI*|PINDEL	.	AACCATGGCAAA	NONE	.	.	Superfamily_domains:SSF82866,Pfam_domain:PF12349,TIGRFAM_domain:TIGR00918,Gene3D:2j8sB01,hmmpanther:PTHR10796:SF61,hmmpanther:PTHR10796,PROSITE_profiles:PS50156,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000332353	.	13/24	.	.	.	.	.	.	.	.	.	13/24	PASS	ENST00000331920	Transcript	.	.	ENSG00000185920	9585	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PTC1_HUMAN	PTCH1	HGNC	Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN	.	UPI00001AFF9C	deletion	PTCH1,frameshift_variant,p.Met586TrpfsTer36,ENST00000375274,;PTCH1,frameshift_variant,p.Met587TrpfsTer36,ENST00000331920,;PTCH1,frameshift_variant,p.Met521TrpfsTer36,ENST00000430669,;PTCH1,frameshift_variant,p.Met436TrpfsTer36,ENST00000418258,;PTCH1,frameshift_variant,p.Met436TrpfsTer36,ENST00000429896,;PTCH1,frameshift_variant,p.Met436TrpfsTer36,ENST00000421141,;PTCH1,frameshift_variant,p.Met252TrpfsTer36,ENST00000375271,;PTCH1,frameshift_variant,p.Met521TrpfsTer36,ENST00000437951,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,upstream_gene_variant,,ENST00000549678,;	2058	83	101	SUCCESS
NRK	203447	.	GRCh37	X	105066720	105066720	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	77	0	ENST00000243300.9:c.-119G>T		p.*40*	ENST00000243300	NM_198465.2			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCAGACTCC	NONE	.	.	.	.	.	ENSP00000438378	.	1/29	.	.	.	.	.	.	.	.	.	1/29	PASS	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,5_prime_UTR_variant,,ENST00000536164,;NRK,5_prime_UTR_variant,,ENST00000428173,;NRK,5_prime_UTR_variant,,ENST00000243300,;	185	77	62	SUCCESS
BMP15	9210	.	GRCh37	X	50658936	50658936	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	113	281	0	ENST00000252677.3:c.508G>T	p.Asp170Tyr	p.D170Y	ENST00000252677	NM_005448.2	170	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS14334.1	508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGATTCC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22	.	.	ENSP00000252677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000252677	Transcript	.	.	ENSG00000130385	1068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.06)	.	BMP15_HUMAN	BMP15	HGNC	.	.	UPI000013CD7C	SNV	BMP15,missense_variant,p.Asp170Tyr,ENST00000252677,;	508	281	242	SUCCESS
FOXR2	139628	.	GRCh37	X	55650548	55650548	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	67	125	0	ENST00000339140.3:c.404C>T	p.Ser135Phe	p.S135F	ENST00000339140	NM_198451.3	135	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS35308.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCAGTG	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73,Low_complexity_(Seg):seg	.	.	ENSP00000427329	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000339140	Transcript	.	.	ENSG00000189299	30469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.28)	.	FOXR2_HUMAN	FOXR2	HGNC	.	.	UPI00001603CE	SNV	FOXR2,missense_variant,p.Ser135Phe,ENST00000339140,;	716	125	125	SUCCESS
DACH2	117154	.	GRCh37	X	86069740	86069740	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1291863750	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	15	106	0	ENST00000373125.4:c.1587G>T	p.Leu529Phe	p.L529F	ENST00000373125	NM_053281.3	529	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14455.1	1587	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGCAGGA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7	.	.	ENSP00000362217	.	10/12	.	.	.	.	.	.	.	.	.	10/12	PASS	ENST00000373125	Transcript	.	.	ENSG00000126733	16814	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DACH2_HUMAN	DACH2	HGNC	.	.	UPI00000717B4	SNV	DACH2,missense_variant,p.Leu310Phe,ENST00000510272,;DACH2,missense_variant,p.Leu529Phe,ENST00000373125,;DACH2,missense_variant,p.Leu194Phe,ENST00000484479,;DACH2,missense_variant,p.Leu516Phe,ENST00000373131,;DACH2,missense_variant,p.Leu362Phe,ENST00000508860,;DACH2,3_prime_UTR_variant,,ENST00000461604,;DACH2,3_prime_UTR_variant,,ENST00000506327,;	1587	106	128	SUCCESS
CNNM1	26507	.	GRCh37	10	101089165	101089165	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	33	0	ENST00000356713.4:c.21G>A	p.Ala7=	p.A7=	ENST00000356713	NM_020348.2	7	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7478.2	21	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGGCAGC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000349147	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000356713	Transcript	.	.	ENSG00000119946	102	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNNM1_HUMAN	CNNM1	HGNC	F2YHU6_HUMAN,B3KPD2_HUMAN	.	UPI0000E19A44	SNV	CNNM1,synonymous_variant,p.%3D,ENST00000446890,;CNNM1,synonymous_variant,p.%3D,ENST00000370528,;CNNM1,synonymous_variant,p.%3D,ENST00000356713,;CNNM1,upstream_gene_variant,,ENST00000370534,;	310	33	39	SUCCESS
FAM178A	0	.	GRCh37	10	102684351	102684351	+	synonymous_variant	Silent	SNP	C	C	T	rs1481435595	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	16	171	0	ENST00000238961.4:c.1593C>T	p.Ala531=	p.A531=	ENST00000238961	NM_018121.3	531	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44470.1	1593	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCGATTC	NONE	.	.	hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF10	.	.	ENSP00000359292	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000370269	Transcript	.	.	ENSG00000119906	17814	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F178A_HUMAN	FAM178A	HGNC	.	.	UPI0000458847	SNV	FAM178A,synonymous_variant,p.%3D,ENST00000370269,;FAM178A,synonymous_variant,p.%3D,ENST00000370271,;FAM178A,synonymous_variant,p.%3D,ENST00000238961,;	1725	171	124	SUCCESS
PSD	5662	.	GRCh37	10	104171962	104171962	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	32	84	0	ENST00000020673.5:c.1771G>A	p.Ala591Thr	p.A591T	ENST00000020673	NM_001270966.1	591	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS31272.1	1771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCACCA	NONE	.	.	PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425	.	.	ENSP00000020673	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000020673	Transcript	.	.	ENSG00000059915	9507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PSD1_HUMAN	PSD	HGNC	.	.	UPI0000404928	SNV	PSD,missense_variant,p.Ala591Thr,ENST00000020673,;PSD,missense_variant,p.Ala591Thr,ENST00000406432,;PSD,upstream_gene_variant,,ENST00000488194,;PSD,downstream_gene_variant,,ENST00000492902,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,upstream_gene_variant,,ENST00000461698,;	2298	84	90	SUCCESS
CYP17A1	1586	.	GRCh37	10	104595102	104595102	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	107	0	ENST00000369887.3:c.345T>C	p.Ala115=	p.A115=	ENST00000369887	NM_000102.3	115	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7541.1	345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCAGCGAA	NONE	.	.	hmmpanther:PTHR24289,hmmpanther:PTHR24289:SF1,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000358903	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000369887	Transcript	1	.	ENSG00000148795	2593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP17A_HUMAN	CYP17A1	HGNC	Q1HB44_HUMAN,C7F7K7_HUMAN	.	UPI0000128309	SNV	CYP17A1,synonymous_variant,p.%3D,ENST00000369887,;CYP17A1-AS1,downstream_gene_variant,,ENST00000369884,;CYP17A1,non_coding_transcript_exon_variant,,ENST00000489268,;CYP17A1,upstream_gene_variant,,ENST00000469683,;PFN1P11,downstream_gene_variant,,ENST00000445829,;	517	107	67	SUCCESS
INA	9118	.	GRCh37	10	105037580	105037580	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	34	0	ENST00000369849.4:c.612C>T	p.Asp204=	p.D204=	ENST00000369849	NM_032727.3	204	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS7545.1	612	MUTECT|MUSE	.	GTGGACGGCGC	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132,Pfam_domain:PF00038,Superfamily_domains:SSF90257	.	.	ENSP00000358865	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369849	Transcript	.	.	ENSG00000148798	6057	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AINX_HUMAN	INA	HGNC	B4DE66_HUMAN	.	UPI000012573C	SNV	INA,synonymous_variant,p.%3D,ENST00000369849,;	661	34	47	SUCCESS
NEURL1	9148	.	GRCh37	10	105344832	105344832	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	17	0	ENST00000369780.4:c.1189G>A	p.Asp397Asn	p.D397N	ENST00000369780	NM_004210.4	397	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS7551.1	1189	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGACATC	NONE	.	.	PROSITE_profiles:PS51065,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF4,SMART_domains:SM00588	.	.	ENSP00000358795	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000369780	Transcript	.	.	ENSG00000107954	7761	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.08)	.	NEU1A_HUMAN	NEURL1	HGNC	B4DS86_HUMAN	.	UPI0000073F46	SNV	NEURL1,missense_variant,p.Asp380Asn,ENST00000369777,;NEURL1,missense_variant,p.Asp397Asn,ENST00000369780,;SH3PXD2A,downstream_gene_variant,,ENST00000427662,;	1598	17	16	SUCCESS
NHLRC2	374354	.	GRCh37	10	115663496	115663499	+	splice_donor_variant,intron_variant	Splice_Site	DEL	GTAA	GTAA	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	GTAA	GTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	241	32	317	0	ENST00000369301.3:c.1704+5_1704+8del		p.X568_splice	ENST00000369301	NM_198514.3	568		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7585.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGTGGTAAGTAAT	NONE	.	.	.	.	.	ENSP00000358307	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369301	Transcript	.	.	ENSG00000196865	24731	4	.	HIGH	9/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NHLC2_HUMAN	NHLRC2	HGNC	.	.	UPI0000071EAF	deletion	NHLRC2,splice_donor_variant,,ENST00000369301,;	.	317	273	SUCCESS
FGFR2	2263	.	GRCh37	10	123310909	123310929	+	inframe_deletion	In_Frame_Del	DEL	GTTGGCCGCAGGCACAGCATG	GTTGGCCGCAGGCACAGCATG	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	GTTGGCCGCAGGCACAGCATG	GTTGGCCGCAGGCACAGCATG	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	94	0	ENST00000358487.5:c.499_519del	p.His167_Asn173del	p.H167_N173del	ENST00000358487	NM_000141.4	167	CATGCTGTGCCTGCGGCCAAC/-	0	.	.	.	.	.	-	HAVPAAN/-	protein_coding	YES	CCDS7620.2	499-519	INDELOCATOR*|VARSCANI*|PINDEL	.	GACAGTGTTGGCCGCAGGCACAGCATGGAGCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF130,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF48726	.	.	ENSP00000410294	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	deletion	FGFR2,inframe_deletion,p.His78_Asn84del,ENST00000336553,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000351936,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000346997,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000369061,;FGFR2,inframe_deletion,p.His78_Asn84del,ENST00000360144,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000358487,;FGFR2,inframe_deletion,p.His52_Asn58del,ENST00000369059,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000359354,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000369058,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000369060,;FGFR2,inframe_deletion,p.His52_Asn58del,ENST00000356226,;FGFR2,inframe_deletion,p.His78_Asn84del,ENST00000357555,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000369056,;FGFR2,inframe_deletion,p.His167_Asn173del,ENST00000457416,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,inframe_deletion,p.His52_Asn58del,ENST00000604236,;	1091-1111	94	62	SUCCESS
ACADSB	36	.	GRCh37	10	124812642	124812642	+	synonymous_variant	Silent	SNP	C	C	T	rs142095937	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	20	96	0	ENST00000358776.4:c.1194C>T	p.Tyr398=	p.Y398=	ENST00000358776	NM_001609.3	398	taC/taT	0	G:0.0018	.	.	.	.	T	Y	protein_coding	YES	CCDS7634.1	1194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTACCCTGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF212,PROSITE_patterns:PS00073,Gene3D:1.20.140.10,Pfam_domain:PF00441,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	.	G:0	ENSP00000357873	.	10/11	.	.	.	.	.	.	.	.	rs142095937	10/11	PASS	ENST00000358776	Transcript	1	.	ENSG00000196177	91	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACDSB_HUMAN	ACADSB	HGNC	B4DQ51_HUMAN	.	UPI00001251DF	SNV	ACADSB,synonymous_variant,p.%3D,ENST00000358776,;ACADSB,synonymous_variant,p.%3D,ENST00000368869,;ACADSB,non_coding_transcript_exon_variant,,ENST00000541070,;	1208	96	100	SUCCESS
DHX32	55760	.	GRCh37	10	127526922	127526922	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	61	0	ENST00000284690.3:c.1916T>G	p.Leu639Ter	p.L639*	ENST00000284690	NM_018180.2	639	tTa/tGa	0	.	.	.	.	.	C	L/*	protein_coding	YES	CCDS7652.1	1916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATTAAGTAG	NONE	.	.	hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934,Pfam_domain:PF07717	.	.	ENSP00000284690	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000284690	Transcript	.	.	ENSG00000089876	16717	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX32_HUMAN	DHX32	HGNC	.	.	UPI00000467F4	SNV	DHX32,stop_gained,p.Leu558Ter,ENST00000284688,;DHX32,stop_gained,p.Leu263Ter,ENST00000368721,;DHX32,stop_gained,p.Leu639Ter,ENST00000284690,;BCCIP,intron_variant,,ENST00000299130,;BCCIP,intron_variant,,ENST00000429863,;BCCIP,intron_variant,,ENST00000368759,;BCCIP,downstream_gene_variant,,ENST00000278100,;AL360176.1,upstream_gene_variant,,ENST00000401153,;	2407	61	45	SUCCESS
DPYSL4	10570	.	GRCh37	10	134012411	134012411	+	synonymous_variant	Silent	SNP	G	G	A	rs377151543	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	142	0	ENST00000338492.4:c.747G>A	p.Pro249=	p.P249=	ENST00000338492	NM_006426.2	249	ccG/ccA	0	A:0	.	.	.	.	A	P	protein_coding	YES	CCDS7665.1	747	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGCTGTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51556	.	A:0.0001	ENSP00000339850	.	8/14	.	.	.	.	.	.	.	.	rs377151543	8/14	PASS	ENST00000338492	Transcript	.	.	ENSG00000151640	3016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPYL4_HUMAN	DPYSL4	HGNC	D3DRG7_HUMAN	.	UPI000013DC70	SNV	DPYSL4,synonymous_variant,p.%3D,ENST00000368627,;DPYSL4,synonymous_variant,p.%3D,ENST00000368629,;DPYSL4,synonymous_variant,p.%3D,ENST00000338492,;DPYSL4,downstream_gene_variant,,ENST00000493882,;DPYSL4,upstream_gene_variant,,ENST00000471544,;	911	142	121	SUCCESS
CUBN	8029	.	GRCh37	10	17126368	17126368	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370770104	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	17	124	0	ENST00000377833.4:c.2203G>A	p.Val735Ile	p.V735I	ENST00000377833	NM_001081.3	735	Gtc/Atc	0	T:0	A:0	.	A:0.0014	.	T	V/I	protein_coding	YES	CCDS7113.1	2203	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGACGCATT	NONE	byCluster|by1000G	.	PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	A:0	T:0.0001	ENSP00000367064	A:0	17/67	.	.	.	.	.	.	.	.	rs370770104,COSM3382793	17/67	PASS	ENST00000377833	Transcript	1	A:0.0002	ENSG00000107611	2548	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.015)	A:0	tolerated(1)	0,1	CUBN_HUMAN	CUBN	HGNC	B3KQA6_HUMAN	.	UPI00001AE8F4	SNV	CUBN,missense_variant,p.Val735Ile,ENST00000377833,;	2269	124	119	SUCCESS
MYO3A	53904	.	GRCh37	10	26434457	26434457	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	35	238	1	ENST00000265944.5:c.2499A>G	p.Ala833=	p.A833=	ENST00000265944	NM_017433.4	833	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS7148.1	2499	RADIA|MUTECT|MUSE|VARSCANS	.	TATGCAGGAAA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	.	.	ENSP00000265944	.	22/35	.	.	.	.	.	.	.	.	.	22/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,synonymous_variant,p.%3D,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;	2665	239	232	SUCCESS
HNRNPF	3185	.	GRCh37	10	43883054	43883054	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	70	0	ENST00000337970.3:c.279G>A	p.Met93Ile	p.M93I	ENST00000337970	NM_004966.3	93	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS7204.1	279	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATCCATCTC	NONE	.	.	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF32,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	.	.	ENSP00000400433	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000443950	Transcript	.	.	ENSG00000169813	5039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.47)	.	deleterious(0.01)	.	HNRPF_HUMAN	HNRNPF	HGNC	Q8NI96_HUMAN,B4DKS8_HUMAN	.	UPI0000000C5C	SNV	HNRNPF,missense_variant,p.Met93Ile,ENST00000337970,;HNRNPF,missense_variant,p.Met93Ile,ENST00000357065,;HNRNPF,missense_variant,p.Met93Ile,ENST00000544000,;HNRNPF,missense_variant,p.Met93Ile,ENST00000443950,;HNRNPF,missense_variant,p.Met93Ile,ENST00000356053,;HNRNPF,non_coding_transcript_exon_variant,,ENST00000477108,;HNRNPF,downstream_gene_variant,,ENST00000498176,;	766	70	69	SUCCESS
ARHGAP22	58504	.	GRCh37	10	49659075	49659075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	16	111	0	ENST00000249601.4:c.1097G>T	p.Cys366Phe	p.C366F	ENST00000249601	NM_021226.3	366	tGc/tTc	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS58080.1	1145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGCATTGC	NONE	.	.	hmmpanther:PTHR13521:SF6,hmmpanther:PTHR13521	.	.	ENSP00000412461	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000417912	Transcript	.	.	ENSG00000128805	30320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.67)	.	RHG22_HUMAN	ARHGAP22	HGNC	A6NHM7_HUMAN	.	UPI0000E5BE9D	SNV	ARHGAP22,missense_variant,p.Cys372Phe,ENST00000435790,;ARHGAP22,missense_variant,p.Cys207Phe,ENST00000374170,;ARHGAP22,missense_variant,p.Cys366Phe,ENST00000249601,;ARHGAP22,missense_variant,p.Cys257Phe,ENST00000374172,;ARHGAP22,missense_variant,p.Cys199Phe,ENST00000477708,;ARHGAP22,missense_variant,p.Cys382Phe,ENST00000417912,;ARHGAP22,missense_variant,p.Cys276Phe,ENST00000417247,;ARHGAP22,downstream_gene_variant,,ENST00000471013,;ARHGAP22,downstream_gene_variant,,ENST00000515523,;ARHGAP22,downstream_gene_variant,,ENST00000489984,;ARHGAP22,3_prime_UTR_variant,,ENST00000460425,;	1301	111	102	SUCCESS
OGDHL	55753	.	GRCh37	10	50947771	50947771	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	64	0	ENST00000374103.4:c.2255G>A	p.Gly752Asp	p.G752D	ENST00000374103	NM_018245.2	752	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS7234.1	2255	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCGGTG	NONE	.	.	Superfamily_domains:SSF52518,PIRSF_domain:PIRSF000157,SMART_domains:SM00861,Gene3D:3.40.50.970,Pfam_domain:PF02779,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF5,hmmpanther:PTHR23152	.	.	ENSP00000363216	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000374103	Transcript	.	.	ENSG00000197444	25590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	OGDHL_HUMAN	OGDHL	HGNC	.	.	UPI000013D6A4	SNV	OGDHL,missense_variant,p.Gly543Asp,ENST00000432695,;OGDHL,missense_variant,p.Gly695Asp,ENST00000419399,;OGDHL,missense_variant,p.Gly752Asp,ENST00000374103,;OGDHL,upstream_gene_variant,,ENST00000490844,;OGDHL,downstream_gene_variant,,ENST00000496884,;	2341	64	62	SUCCESS
PCDH15	65217	.	GRCh37	10	55973769	55973769	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	36	85	1	ENST00000320301.6:c.1025C>T	p.Pro342Leu	p.P342L	ENST00000320301	NM_033056.3	342	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS44404.1	1025	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTAGGATGC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_profiles:PS50268	.	.	ENSP00000354950	.	10/34	.	.	.	.	.	.	.	.	.	10/34	PASS	ENST00000361849	Transcript	1	.	ENSG00000150275	14674	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.2)	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,missense_variant,p.Pro342Leu,ENST00000437009,;PCDH15,missense_variant,p.Pro320Leu,ENST00000395433,;PCDH15,missense_variant,p.Pro342Leu,ENST00000395445,;PCDH15,missense_variant,p.Pro342Leu,ENST00000320301,;PCDH15,missense_variant,p.Pro305Leu,ENST00000395432,;PCDH15,missense_variant,p.Pro342Leu,ENST00000373955,;PCDH15,missense_variant,p.Pro320Leu,ENST00000373957,;PCDH15,missense_variant,p.Pro342Leu,ENST00000395440,;PCDH15,missense_variant,p.Pro342Leu,ENST00000361849,;PCDH15,missense_variant,p.Pro342Leu,ENST00000395438,;PCDH15,missense_variant,p.Pro342Leu,ENST00000395446,;PCDH15,missense_variant,p.Pro342Leu,ENST00000395442,;PCDH15,missense_variant,p.Pro347Leu,ENST00000414778,;PCDH15,missense_variant,p.Pro342Leu,ENST00000373965,;PCDH15,missense_variant,p.Pro342Leu,ENST00000395430,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Pro342Leu,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	1420	86	96	SUCCESS
ANK3	288	.	GRCh37	10	61828444	61828444	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	68	0	ENST00000280772.2:c.12195del	p.Lys4065AsnfsTer32	p.K4065Nfs*32	ENST00000280772	NM_020987.3	4065	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS7258.1	12195	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTGATTTTAA	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	.	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	deletion	ANK3,frameshift_variant,p.Lys4065AsnfsTer32,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;ANK3,intron_variant,,ENST00000355288,;ANK3,upstream_gene_variant,,ENST00000514197,;ANK3,upstream_gene_variant,,ENST00000459732,;	12387	68	86	SUCCESS
SIRT1	23411	.	GRCh37	10	69648662	69648662	+	synonymous_variant	Silent	SNP	A	A	G	rs762335935	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	54	0	ENST00000212015.6:c.570A>G	p.Gln190=	p.Q190=	ENST00000212015	NM_012238.4	190	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS7273.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAACATCT	NONE	.	.	.	.	.	ENSP00000212015	.	3/9	.	.	.	.	.	.	.	.	rs762335935	3/9	PASS	ENST00000212015	Transcript	.	.	ENSG00000096717	14929	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIR1_HUMAN	SIRT1	HGNC	E9PC49_HUMAN,A8K128_HUMAN	.	UPI0000073E1A	SNV	SIRT1,synonymous_variant,p.%3D,ENST00000212015,;SIRT1,intron_variant,,ENST00000432464,;SIRT1,upstream_gene_variant,,ENST00000406900,;SIRT1,non_coding_transcript_exon_variant,,ENST00000497639,;SIRT1,intron_variant,,ENST00000473922,;	623	54	41	SUCCESS
DNA2	1763	.	GRCh37	10	70176478	70176478	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	6	138	0	ENST00000358410.3:c.3102C>T	p.Asn1034=	p.N1034=	ENST00000358410	NM_001080449.2	1034	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	.	3360	MUTECT|MUSE	.	TCTGAGTTTAA	NONE	.	.	hmmpanther:PTHR10887:SF339,hmmpanther:PTHR10887	.	.	ENSP00000382133	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000399180	Transcript	1	.	ENSG00000138346	2939	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,synonymous_variant,p.%3D,ENST00000358410,;DNA2,synonymous_variant,p.%3D,ENST00000399179,;DNA2,synonymous_variant,p.%3D,ENST00000399180,;DNA2,synonymous_variant,p.%3D,ENST00000551118,;DNA2,synonymous_variant,p.%3D,ENST00000440722,;DNA2,non_coding_transcript_exon_variant,,ENST00000550545,;	3360	138	126	SUCCESS
LIPK	643414	.	GRCh37	10	90512278	90512278	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200951684	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	78	0	ENST00000404190.1:c.965C>T	p.Thr322Ile	p.T322I	ENST00000404190	NM_001080518.1	322	aCa/aTa	0	.	G:0	.	G:0	.	T	T/I	protein_coding	YES	CCDS44455.1	965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTACACCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF15,Pfam_domain:PF00561,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000862,Superfamily_domains:SSF53474	G:0	.	ENSP00000383900	G:0.001	9/9	.	.	.	.	.	.	.	.	rs200951684	9/9	PASS	ENST00000404190	Transcript	.	G:0.0002	ENSG00000204021	23444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	G:0	tolerated(0.09)	.	LIPK_HUMAN	LIPK	HGNC	.	.	UPI00000497BC	SNV	LIPK,missense_variant,p.Thr322Ile,ENST00000404190,;	965	78	82	SUCCESS
TCTN3	26123	.	GRCh37	10	97453178	97453178	+	synonymous_variant	Silent	SNP	G	G	A	rs1481315374	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	19	159	0	ENST00000371217.5:c.312C>T	p.Cys104=	p.C104=	ENST00000371217		104	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS31258.2	312	RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGCAGCA	NONE	.	.	hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF4,Pfam_domain:PF07773	.	.	ENSP00000360261	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000371217	Transcript	1	.	ENSG00000119977	24519	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	TCTN3	HGNC	.	.	UPI000004BA6E	SNV	TCTN3,synonymous_variant,p.%3D,ENST00000265993,;TCTN3,synonymous_variant,p.%3D,ENST00000371209,;TCTN3,synonymous_variant,p.%3D,ENST00000430368,;TCTN3,synonymous_variant,p.%3D,ENST00000371217,;TCTN3,non_coding_transcript_exon_variant,,ENST00000497399,;TCTN3,non_coding_transcript_exon_variant,,ENST00000478245,;	336	159	153	SUCCESS
CNTN5	53942	.	GRCh37	11	100221535	100221535	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1156878491	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	32	120	0	ENST00000524871.1:c.3133G>A	p.Val1045Ile	p.V1045I	ENST00000524871	NM_014361.3	1045	Gtt/Att	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS53696.1	3133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGTTCGA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000435637	.	24/25	.	.	.	.	.	.	.	.	.	24/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(1)	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,missense_variant,p.Val1045Ile,ENST00000279463,;CNTN5,missense_variant,p.Val1045Ile,ENST00000524871,;CNTN5,missense_variant,p.Val1045Ile,ENST00000528682,;CNTN5,missense_variant,p.Val971Ile,ENST00000418526,;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;	3423	120	164	SUCCESS
CARD18	59082	.	GRCh37	11	105009586	105009586	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	9	163	0	ENST00000530950.1:c.227T>A	p.Leu76His	p.L76H	ENST00000530950	NM_021571.3	76	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS53705.1	227	MUTECT|MUSE	.	CACAGAGATGC	NONE	.	.	PROSITE_profiles:PS50209,hmmpanther:PTHR10454:SF136,hmmpanther:PTHR10454,Pfam_domain:PF00619,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	.	.	ENSP00000436691	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000530950	Transcript	.	.	ENSG00000255501	28861	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	CAR18_HUMAN	CARD18	HGNC	G5EA35_HUMAN	.	UPI000012D143	SNV	CARD18,missense_variant,p.Leu37His,ENST00000532895,;CARD18,missense_variant,p.Leu37His,ENST00000526823,;CARD18,missense_variant,p.Leu76His,ENST00000530950,;	227	163	163	SUCCESS
MSANTD4	84437	.	GRCh37	11	105880665	105880665	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	52	0	ENST00000301919.4:c.635T>C	p.Leu212Pro	p.L212P	ENST00000301919	NM_032424.1	212	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS31663.1	635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTAGTTTC	NONE	.	.	hmmpanther:PTHR21732,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000304713	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301919	Transcript	.	.	ENSG00000170903	29383	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.879)	.	deleterious(0)	.	MSD4_HUMAN	MSANTD4	HGNC	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN	.	UPI0000073CF1	SNV	MSANTD4,missense_variant,p.Leu212Pro,ENST00000301919,;MSANTD4,downstream_gene_variant,,ENST00000534458,;MSANTD4,downstream_gene_variant,,ENST00000530108,;MSANTD4,downstream_gene_variant,,ENST00000530788,;MSANTD4,upstream_gene_variant,,ENST00000529805,;	2051	52	57	SUCCESS
CWF19L2	143884	.	GRCh37	11	107299544	107299544	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	96	0	ENST00000282251.5:c.1414A>T	p.Thr472Ser	p.T472S	ENST00000282251	NM_152434.2	472	Aca/Tca	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS8336.2	1414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTATCCC	NONE	.	.	hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072	.	.	ENSP00000282251	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000282251	Transcript	.	.	ENSG00000152404	26508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.71)	.	C19L2_HUMAN	CWF19L2	HGNC	Q6PIV4_HUMAN	.	UPI00005A81B4	SNV	CWF19L2,missense_variant,p.Thr472Ser,ENST00000433523,;CWF19L2,missense_variant,p.Thr472Ser,ENST00000282251,;CWF19L2,missense_variant,p.Thr353Ser,ENST00000431778,;CWF19L2,missense_variant,p.Thr353Ser,ENST00000532251,;	1442	96	92	SUCCESS
MUC2	4583	.	GRCh37	11	1103206	1103206	+	synonymous_variant	Silent	SNP	C	C	T	rs376792696	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	75	1	ENST00000441003.2:c.7956C>T	p.Ser2652=	p.S2652=	ENST00000441003	NM_002457.2	2652	agC/agT	0	T:0.0002	.	.	.	.	T	S	protein_coding	YES	.	7956	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCGACCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	.	T:0	ENSP00000415183	.	46/49	.	.	.	.	.	.	.	.	rs376792696	46/49	PASS	ENST00000441003	Transcript	.	.	ENSG00000198788	7512	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC2	HGNC	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN	.	UPI00006C10F2	SNV	MUC2,synonymous_variant,p.%3D,ENST00000441003,;MUC2,downstream_gene_variant,,ENST00000361558,;	7983	76	82	SUCCESS
PPP2R1B	5519	.	GRCh37	11	111613287	111613287	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	42	0	ENST00000527614.1:c.1657G>A	p.Ala553Thr	p.A553T	ENST00000527614	NM_001177562.1	553	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8348.1	1657	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGCCACAT	NONE	.	.	PROSITE_profiles:PS50077,hmmpanther:PTHR10648:SF9,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371	.	.	ENSP00000311344	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000311129	Transcript	.	.	ENSG00000137713	9303	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.65)	.	deleterious(0)	.	2AAB_HUMAN	PPP2R1B	HGNC	.	.	UPI000006CEE0	SNV	PPP2R1B,missense_variant,p.Ala553Thr,ENST00000527614,;PPP2R1B,missense_variant,p.Ala426Thr,ENST00000393055,;PPP2R1B,missense_variant,p.Ala392Thr,ENST00000427203,;PPP2R1B,missense_variant,p.Ala182Thr,ENST00000531890,;PPP2R1B,missense_variant,p.Ala553Thr,ENST00000311129,;PPP2R1B,missense_variant,p.Ala508Thr,ENST00000341980,;PPP2R1B,missense_variant,p.Ala489Thr,ENST00000426998,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;PPP2R1B,non_coding_transcript_exon_variant,,ENST00000529672,;	1678	42	55	SUCCESS
C11orf57	0	.	GRCh37	11	111953315	111953316	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs757462125	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	350	75	297	0	ENST00000393047.3:c.507dup	p.Gln170ThrfsTer18	p.Q170Tfs*18	ENST00000393047		167	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS8356.2	501-502	VARSCANI*|PINDEL	.	TCACACAAAAA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000376767	.	6/6	.	.	.	.	.	.	.	.	rs757462125,COSM1561094	6/6	PASS	ENST00000393047	Transcript	.	.	ENSG00000150776	25569	6	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	CK057_HUMAN	C11orf57	HGNC	E9PQL5_HUMAN,E9PKA8_HUMAN	.	UPI00001FA363	insertion	C11orf57,frameshift_variant,p.Gln141ThrfsTer18,ENST00000525785,;C11orf57,frameshift_variant,p.Gln169ThrfsTer18,ENST00000420986,;C11orf57,frameshift_variant,p.Gln170ThrfsTer18,ENST00000393047,;C11orf57,frameshift_variant,p.Gln169ThrfsTer18,ENST00000280352,;C11orf57,frameshift_variant,p.Gln141ThrfsTer18,ENST00000532163,;SDHD,upstream_gene_variant,,ENST00000528182,;C11orf57,downstream_gene_variant,,ENST00000531378,;C11orf57,downstream_gene_variant,,ENST00000526879,;C11orf57,downstream_gene_variant,,ENST00000530104,;TIMM8B,downstream_gene_variant,,ENST00000504148,;SDHD,upstream_gene_variant,,ENST00000526592,;SDHD,upstream_gene_variant,,ENST00000375549,;SDHD,upstream_gene_variant,,ENST00000525291,;SDHD,upstream_gene_variant,,ENST00000528021,;TIMM8B,downstream_gene_variant,,ENST00000541231,;SDHD,upstream_gene_variant,,ENST00000528048,;TIMM8B,downstream_gene_variant,,ENST00000507614,;C11orf57,3_prime_UTR_variant,,ENST00000524989,;SDHD,upstream_gene_variant,,ENST00000525987,;SDHD,upstream_gene_variant,,ENST00000532699,;TIMM8B,downstream_gene_variant,,ENST00000509359,;SDHD,upstream_gene_variant,,ENST00000531744,;SDHD,upstream_gene_variant,,ENST00000530923,;	1110-1111	297	425	SUCCESS
HYOU1	10525	.	GRCh37	11	118923017	118923017	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	50	0	ENST00000404233.3:c.1112A>G	p.Glu371Gly	p.E371G	ENST00000404233	NM_001130991.1	371	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS8408.1	1112	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTCGGCA	NONE	.	.	hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375,Gene3D:3.30.420.40,Pfam_domain:PF00012,Superfamily_domains:SSF53067	.	.	ENSP00000384144	.	10/26	.	.	.	.	.	.	.	.	.	10/26	PASS	ENST00000404233	Transcript	.	.	ENSG00000149428	16931	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.42)	.	HYOU1_HUMAN	HYOU1	HGNC	J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN	.	UPI0000130F72	SNV	HYOU1,missense_variant,p.Glu371Gly,ENST00000404233,;HYOU1,missense_variant,p.Glu284Gly,ENST00000543287,;HYOU1,missense_variant,p.Glu371Gly,ENST00000529972,;HYOU1,missense_variant,p.Glu371Gly,ENST00000530473,;HYOU1,missense_variant,p.Glu371Gly,ENST00000525859,;HYOU1,downstream_gene_variant,,ENST00000532752,;HYOU1,downstream_gene_variant,,ENST00000527038,;HYOU1,downstream_gene_variant,,ENST00000534233,;HYOU1,downstream_gene_variant,,ENST00000532421,;HYOU1,downstream_gene_variant,,ENST00000526656,;HYOU1,downstream_gene_variant,,ENST00000527310,;HYOU1,3_prime_UTR_variant,,ENST00000532519,;HYOU1,downstream_gene_variant,,ENST00000529174,;HYOU1,upstream_gene_variant,,ENST00000527738,;HYOU1,upstream_gene_variant,,ENST00000531682,;HYOU1,downstream_gene_variant,,ENST00000533381,;HYOU1,downstream_gene_variant,,ENST00000526354,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,downstream_gene_variant,,ENST00000531968,;HYOU1,downstream_gene_variant,,ENST00000530467,;	1237	50	65	SUCCESS
THY1	7070	.	GRCh37	11	119291593	119291593	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	24	82	0	ENST00000284240.5:c.23C>T	p.Ala8Val	p.A8V	ENST00000284240	NM_006288.3	8	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8424.1	23	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGCGATG	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19226,hmmpanther:PTHR19226:SF2,PROSITE_profiles:PS50835	.	.	ENSP00000284240	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000284240	Transcript	.	.	ENSG00000154096	11801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.23)	.	THY1_HUMAN	THY1	HGNC	E9PIM6_HUMAN,B0YJA4_HUMAN	.	UPI0000136F1F	SNV	THY1,missense_variant,p.Ala8Val,ENST00000524659,;THY1,missense_variant,p.Ala8Val,ENST00000524970,;THY1,missense_variant,p.Ala8Val,ENST00000528522,;THY1,missense_variant,p.Ala8Val,ENST00000284240,;THY1,missense_variant,p.Ala8Val,ENST00000580275,;USP2-AS1,intron_variant,,ENST00000500970,;USP2-AS1,intron_variant,,ENST00000578923,;USP2-AS1,intron_variant,,ENST00000498979,;USP2-AS1,intron_variant,,ENST00000530002,;RP11-334E6.12,downstream_gene_variant,,ENST00000578216,;THY1,intron_variant,,ENST00000527590,;THY1,missense_variant,p.Ala8Val,ENST00000528295,;THY1,non_coding_transcript_exon_variant,,ENST00000532974,;THY1,non_coding_transcript_exon_variant,,ENST00000584021,;THY1,non_coding_transcript_exon_variant,,ENST00000533840,;	1063	82	92	SUCCESS
OR4D5	219875	.	GRCh37	11	123810463	123810463	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	80	1	ENST00000307033.2:c.140T>A	p.Val47Asp	p.V47D	ENST00000307033	NM_001001965.1	47	gTc/gAc	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS31699.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGTCATAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000305970	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307033	Transcript	.	.	ENSG00000171014	14852	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	deleterious(0)	.	OR4D5_HUMAN	OR4D5	HGNC	.	.	UPI000003F227	SNV	OR4D5,missense_variant,p.Val47Asp,ENST00000307033,;OR6T1,downstream_gene_variant,,ENST00000321252,;	214	81	85	SUCCESS
CDON	50937	.	GRCh37	11	125893349	125893349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	19	69	0	ENST00000392693.3:c.23T>C	p.Leu8Ser	p.L8S	ENST00000392693	NM_001243597.1	8	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS58192.1	23	RADIA|MUTECT|MUSE	.	TACATAAGGGT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489	.	.	ENSP00000376458	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000392693	Transcript	.	.	ENSG00000064309	17104	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.035)	.	deleterious(0.03)	.	CDON_HUMAN	CDON	HGNC	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN	.	UPI0000E0013A	SNV	CDON,missense_variant,p.Leu8Ser,ENST00000534818,;CDON,missense_variant,p.Leu8Ser,ENST00000527967,;CDON,missense_variant,p.Leu8Ser,ENST00000263577,;CDON,missense_variant,p.Leu8Ser,ENST00000392693,;CDON,missense_variant,p.Leu8Ser,ENST00000531586,;CDON,upstream_gene_variant,,ENST00000534661,;CDON,non_coding_transcript_exon_variant,,ENST00000525625,;CDON,upstream_gene_variant,,ENST00000531830,;	151	69	82	SUCCESS
TEAD1	7003	.	GRCh37	11	12883850	12883850	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	32	111	0	ENST00000527636.1:c.256A>G	p.Thr86Ala	p.T86A	ENST00000527636		86	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS7810.2	256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGGACCAGA	NONE	.	.	PROSITE_profiles:PS51088,hmmpanther:PTHR11834,PROSITE_patterns:PS00554,Pfam_domain:PF01285,SMART_domains:SM00426,PIRSF_domain:PIRSF002603,Prints_domain:PR00065	.	.	ENSP00000354588	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000361985	Transcript	.	.	ENSG00000187079	11714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	.	TEAD1	HGNC	H0YE88_HUMAN,H0YCZ6_HUMAN	.	UPI000013D412	SNV	TEAD1,missense_variant,p.Thr71Ala,ENST00000334310,;TEAD1,missense_variant,p.Thr71Ala,ENST00000361905,;TEAD1,missense_variant,p.Thr86Ala,ENST00000527575,;TEAD1,missense_variant,p.Thr86Ala,ENST00000527636,;TEAD1,missense_variant,p.Thr86Ala,ENST00000361985,;TEAD1,non_coding_transcript_exon_variant,,ENST00000525312,;	410	111	131	SUCCESS
GLB1L2	89944	.	GRCh37	11	134217281	134217281	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1170549015	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	16	93	0	ENST00000339772.7:c.512T>C	p.Val171Ala	p.V171A	ENST00000339772		171	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS31724.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGTGGACC	BUFFER|p.T168T|c.504C>T|3	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF006336,Gene3D:3.20.20.80,Pfam_domain:PF01301,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF53	.	.	ENSP00000444628	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000535456	Transcript	.	.	ENSG00000149328	25129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.573)	.	deleterious(0.03)	.	GLBL2_HUMAN	GLB1L2	HGNC	Q8NCG3_HUMAN	.	UPI0000074534	SNV	GLB1L2,missense_variant,p.Val110Ala,ENST00000525089,;GLB1L2,missense_variant,p.Val171Ala,ENST00000535456,;GLB1L2,missense_variant,p.Val171Ala,ENST00000389881,;GLB1L2,missense_variant,p.Val171Ala,ENST00000339772,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000531081,;	700	93	100	SUCCESS
MRGPRX4	117196	.	GRCh37	11	18195145	18195145	+	synonymous_variant	Silent	SNP	C	C	T	rs774403101	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	65	0	ENST00000314254.3:c.342C>T	p.Ser114=	p.S114=	ENST00000314254	NM_054032.3	114	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7831.1	342	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCGCCAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR02108	.	.	ENSP00000314042	.	1/1	.	.	.	.	.	.	.	.	rs774403101,COSM925580	1/1	PASS	ENST00000314254	Transcript	.	.	ENSG00000179817	17617	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	MRGX4_HUMAN	MRGPRX4	HGNC	.	.	UPI0000061F60	SNV	MRGPRX4,synonymous_variant,p.%3D,ENST00000314254,;RP11-113D6.6,intron_variant,,ENST00000527671,;	762	65	88	SUCCESS
KCNA4	3739	.	GRCh37	11	30034166	30034166	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	38	0	ENST00000328224.6:c.60T>C	p.Gly20=	p.G20=	ENST00000328224	NM_002233.3	20	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS41629.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	GCATAACCATA	NONE	.	.	Gene3D:1kn7A00,Pfam_domain:PF07941,Prints_domain:PR01511	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,synonymous_variant,p.%3D,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	1294	38	40	SUCCESS
DCDC1	341019	.	GRCh37	11	31327168	31327168	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs1565584055	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	91	0	ENST00000452803.1:c.748del	p.Ile250LeufsTer7	p.I250Lfs*7	ENST00000452803	NM_181807.3	250	Att/tt	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS7872.1	748	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTAATTTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF21	.	.	ENSP00000389792	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000452803	Transcript	.	.	ENSG00000170959	20625	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCDC1_HUMAN	DCDC1	HGNC	.	.	UPI00001F9F1E	deletion	DCDC1,frameshift_variant,p.Ile250LeufsTer7,ENST00000597505,;DCDC1,frameshift_variant,p.Ile250LeufsTer7,ENST00000452803,;RP1-296L11.1,upstream_gene_variant,,ENST00000528872,;DCDC1,frameshift_variant,p.Ile250LeufsTer127,ENST00000342355,;	950	91	109	SUCCESS
HIPK3	10114	.	GRCh37	11	33309022	33309022	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	19	139	0	ENST00000303296.4:c.1062T>C	p.Thr354=	p.T354=	ENST00000303296	NM_005734.4	354	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS7884.1	1062	RADIA|MUTECT|MUSE|VARSCANS	.	AAGACTGTTTG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000304226	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,synonymous_variant,p.%3D,ENST00000525975,;HIPK3,synonymous_variant,p.%3D,ENST00000456517,;HIPK3,synonymous_variant,p.%3D,ENST00000379016,;HIPK3,synonymous_variant,p.%3D,ENST00000303296,;HIPK3,downstream_gene_variant,,ENST00000531504,;	1367	139	153	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33566862	33566862	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774799305	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	59	0	ENST00000321505.4:c.2432C>T	p.Thr811Met	p.T811M	ENST00000321505		811	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS44565.2	2432	MUTECT|MUSE	.	GGTCACGACTG	NONE	byFrequency	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	2/20	.	.	.	.	.	.	.	.	rs774799305	2/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,missense_variant,p.Thr811Met,ENST00000321505,;KIAA1549L,missense_variant,p.Thr209Met,ENST00000526400,;KIAA1549L,missense_variant,p.Thr817Met,ENST00000389726,;KIAA1549L,missense_variant,p.Thr817Met,ENST00000265654,;	2612	59	69	SUCCESS
PHF21A	51317	.	GRCh37	11	45955607	45955607	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs761575760	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	26	66	0	ENST00000418153.2:c.1955del	p.Pro652LeufsTer104	p.P652Lfs*104	ENST00000418153		652	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS44578.1	1955	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGGCAGGGGGG	SITE|p.P606fs*>29|c.1817delC|4,SITE|p.P652fs*>29|c.1955delC|4	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF6	.	.	ENSP00000398824	.	18/18	.	.	.	.	.	.	.	.	rs767200214,COSM1353900,COSM1353899	18/18	PASS	ENST00000418153	Transcript	.	.	ENSG00000135365	24156	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	PF21A_HUMAN	PHF21A	HGNC	E9PR02_HUMAN,E9PQM3_HUMAN,E9PNW9_HUMAN,E9PLV4_HUMAN	.	UPI000006E1CB	deletion	PHF21A,frameshift_variant,p.Pro653LeufsTer104,ENST00000257821,;PHF21A,frameshift_variant,p.Pro606LeufsTer104,ENST00000323180,;PHF21A,frameshift_variant,p.Pro127LeufsTer?,ENST00000532028,;PHF21A,frameshift_variant,p.Pro652LeufsTer104,ENST00000418153,;PHF21A,3_prime_UTR_variant,,ENST00000525676,;GYLTL1B,downstream_gene_variant,,ENST00000325468,;GYLTL1B,downstream_gene_variant,,ENST00000531526,;GYLTL1B,downstream_gene_variant,,ENST00000529052,;GYLTL1B,downstream_gene_variant,,ENST00000536139,;GYLTL1B,downstream_gene_variant,,ENST00000531847,;GYLTL1B,downstream_gene_variant,,ENST00000401752,;PHF21A,downstream_gene_variant,,ENST00000527753,;PHF21A,3_prime_UTR_variant,,ENST00000530587,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527401,;GYLTL1B,downstream_gene_variant,,ENST00000528236,;PHF21A,downstream_gene_variant,,ENST00000534724,;PHF21A,downstream_gene_variant,,ENST00000534766,;GYLTL1B,downstream_gene_variant,,ENST00000530437,;	2155	66	102	SUCCESS
AMBRA1	55626	.	GRCh37	11	46456582	46456582	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377069728	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	75	0	ENST00000458649.2:c.2638G>A	p.Val880Met	p.V880M	ENST00000458649		880	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS31475.1	2368	RADIA|MUTECT|MUSE|VARSCANS	.	ATTCACGGAAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874	.	T:0.0001	ENSP00000318313	.	14/19	.	.	.	.	.	.	.	.	rs377069728	14/19	PASS	ENST00000314845	Transcript	.	.	ENSG00000110497	25990	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.752)	.	deleterious(0.01)	.	AMRA1_HUMAN	AMBRA1	HGNC	E9PL55_HUMAN	.	UPI0000237851	SNV	AMBRA1,missense_variant,p.Val851Met,ENST00000426438,;AMBRA1,missense_variant,p.Val820Met,ENST00000298834,;AMBRA1,missense_variant,p.Val820Met,ENST00000534300,;AMBRA1,missense_variant,p.Val761Met,ENST00000533727,;AMBRA1,missense_variant,p.Val851Met,ENST00000528950,;AMBRA1,missense_variant,p.Val790Met,ENST00000314845,;AMBRA1,missense_variant,p.Val880Met,ENST00000458649,;AMBRA1,non_coding_transcript_exon_variant,,ENST00000529553,;	2728	75	79	SUCCESS
OR4C13	283092	.	GRCh37	11	49974682	49974682	+	synonymous_variant	Silent	SNP	T	T	C	rs145221317	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	78	0	ENST00000555099.1:c.708T>C	p.Ser236=	p.S236=	ENST00000555099	NM_001001955.2	236	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31495.1	708	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTACCTG	NONE	byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF60,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000452277	.	1/1	.	.	.	.	.	.	.	.	rs145221317	1/1	PASS	ENST00000555099	Transcript	.	.	ENSG00000258817	15169	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR4CD_HUMAN	OR4C13	HGNC	.	.	UPI000013F7D1	SNV	OR4C13,synonymous_variant,p.%3D,ENST00000555099,;	740	78	84	SUCCESS
OR51I2	390064	.	GRCh37	11	5475291	5475291	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	9	61	0	ENST00000341449.2:c.573T>C	p.Asp191=	p.D191=	ENST00000341449	NM_001004754.2	191	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS31383.1	573	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATATCAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF112,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000341987	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341449	Transcript	.	.	ENSG00000187918	15201	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51I2_HUMAN	OR51I2	HGNC	.	.	UPI0000041CD1	SNV	OR51I2,synonymous_variant,p.%3D,ENST00000341449,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;	654	61	68	SUCCESS
LRRC56	115399	.	GRCh37	11	551775	551775	+	synonymous_variant	Silent	SNP	C	C	A	rs758190670	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	34	70	0	ENST00000270115.7:c.921C>A	p.Gly307=	p.G307=	ENST00000270115	NM_198075.3	307	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS7700.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCCTGCT	NONE	byFrequency	.	hmmpanther:PTHR22708:SF0,hmmpanther:PTHR22708	.	.	ENSP00000270115	.	10/14	.	.	.	.	.	.	.	.	rs758190670,COSM3687368	10/14	PASS	ENST00000270115	Transcript	.	.	ENSG00000161328	25430	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LRC56_HUMAN	LRRC56	HGNC	.	.	UPI000007425F	SNV	LRRC56,synonymous_variant,p.%3D,ENST00000270115,;C11orf35,downstream_gene_variant,,ENST00000329451,;C11orf35,downstream_gene_variant,,ENST00000469990,;	1421	70	91	SUCCESS
OR8J3	81168	.	GRCh37	11	55905120	55905120	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	20	121	0	ENST00000301529.1:c.75T>C	p.Ile25=	p.I25=	ENST00000301529	NM_001004064.1	25	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS31520.1	75	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGAATCTG	NONE	.	.	hmmpanther:PTHR26452:SF209,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000301529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000301529	Transcript	.	.	ENSG00000167822	15312	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR8J3_HUMAN	OR8J3	HGNC	.	.	UPI0000061E99	SNV	OR8J3,synonymous_variant,p.%3D,ENST00000301529,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;OR8K4P,downstream_gene_variant,,ENST00000534608,;	75	121	121	SUCCESS
OR5AR1	219493	.	GRCh37	11	56431409	56431409	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1005880593	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	27	103	0	ENST00000302969.2:c.248C>T	p.Ala83Val	p.A83V	ENST00000302969	NM_001004730.1	83	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31535.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCTGACT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF54,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000302639	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302969	Transcript	.	.	ENSG00000172459	15260	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	O5AR1_HUMAN	OR5AR1	HGNC	B9EIN0_HUMAN	.	UPI0000041C93	SNV	OR5AR1,missense_variant,p.Ala83Val,ENST00000302969,;	272	103	108	SUCCESS
CTNND1	1500	.	GRCh37	11	57583392	57583392	+	synonymous_variant	Silent	SNP	C	C	T	rs773613029	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	25	103	0	ENST00000399050.4:c.2814C>T	p.Asp938=	p.D938=	ENST00000399050	NM_001085458.1	938	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS44604.1	2814	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACGAGGG	NONE	byFrequency	.	hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372	.	.	ENSP00000382004	.	20/21	.	.	.	.	.	.	.	.	rs773613029	20/21	PASS	ENST00000399050	Transcript	.	.	ENSG00000198561	2515	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTND1_HUMAN	CTNND1	HGNC	E9PKY0_HUMAN,E9PKL1_HUMAN	.	UPI000012860B	SNV	CTNND1,synonymous_variant,p.%3D,ENST00000532787,;CTNND1,synonymous_variant,p.%3D,ENST00000526357,;CTNND1,synonymous_variant,p.%3D,ENST00000533667,;CTNND1,synonymous_variant,p.%3D,ENST00000529873,;CTNND1,synonymous_variant,p.%3D,ENST00000532844,;CTNND1,synonymous_variant,p.%3D,ENST00000531014,;CTNND1,synonymous_variant,p.%3D,ENST00000415361,;CTNND1,synonymous_variant,p.%3D,ENST00000530094,;CTNND1,synonymous_variant,p.%3D,ENST00000527467,;CTNND1,synonymous_variant,p.%3D,ENST00000361391,;CTNND1,synonymous_variant,p.%3D,ENST00000399050,;CTNND1,synonymous_variant,p.%3D,ENST00000360682,;CTNND1,synonymous_variant,p.%3D,ENST00000361332,;CTNND1,3_prime_UTR_variant,,ENST00000531007,;CTNND1,intron_variant,,ENST00000361796,;CTNND1,intron_variant,,ENST00000428599,;CTNND1,intron_variant,,ENST00000532649,;CTNND1,intron_variant,,ENST00000528232,;CTNND1,intron_variant,,ENST00000529919,;CTNND1,intron_variant,,ENST00000532463,;CTNND1,intron_variant,,ENST00000529986,;CTNND1,intron_variant,,ENST00000532245,;CTNND1,intron_variant,,ENST00000530748,;CTNND1,intron_variant,,ENST00000528621,;CTNND1,intron_variant,,ENST00000534579,;CTNND1,intron_variant,,ENST00000526938,;CTNND1,intron_variant,,ENST00000529526,;CTNND1,intron_variant,,ENST00000399039,;CTNND1,intron_variant,,ENST00000524630,;CTNND1,intron_variant,,ENST00000358694,;CTNND1,intron_variant,,ENST00000426142,;CTNND1,intron_variant,,ENST00000526772,;CTNND1,intron_variant,,ENST00000525902,;CTNND1,downstream_gene_variant,,ENST00000525821,;	3350	103	125	SUCCESS
OR52E8	390079	.	GRCh37	11	5878052	5878052	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	20	122	0	ENST00000537935.1:c.881C>A	p.Pro294His	p.P294H	ENST00000537935	NM_001005168.1	294	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS31400.1	881	RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGGATTG	NONE	.	.	Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF108,hmmpanther:PTHR26450,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000444054	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000537935	Transcript	.	.	ENSG00000183269	15217	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.417)	.	deleterious(0.01)	.	O52E8_HUMAN	OR52E8	HGNC	.	.	UPI000004B211	SNV	OR52E8,missense_variant,p.Pro294His,ENST00000537935,;TRIM5,intron_variant,,ENST00000412903,;TRIM5,intron_variant,,ENST00000380027,;	913	122	164	SUCCESS
OOSP2	219990	.	GRCh37	11	59814440	59814440	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	34	110	0	ENST00000278855.2:c.373del	p.Ser125LeufsTer6	p.S125Lfs*6	ENST00000278855	NM_173801.3	124	gTt/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS7979.1	371	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCAGTTTCTA	NONE	.	.	Pfam_domain:PF00100,hmmpanther:PTHR14380,hmmpanther:PTHR14380:SF7	.	.	ENSP00000278855	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000278855	Transcript	.	.	ENSG00000149507	26699	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OOSP2_HUMAN	OOSP2	HGNC	.	.	UPI000000DC90	deletion	OOSP2,frameshift_variant,p.Ser125LeufsTer6,ENST00000278855,;OOSP2,downstream_gene_variant,,ENST00000532905,;OOSP2,downstream_gene_variant,,ENST00000527395,;	556	110	169	SUCCESS
OR52L1	338751	.	GRCh37	11	6007754	6007754	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	89	0	ENST00000332249.4:c.407T>C	p.Met136Thr	p.M136T	ENST00000332249	NM_001005173.2	136	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS44529.1	407	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCATGGCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF96,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000330338	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332249	Transcript	.	.	ENSG00000183313	14785	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	O52L1_HUMAN	OR52L1	HGNC	.	.	UPI00001B006D	SNV	OR52L1,missense_variant,p.Met136Thr,ENST00000332249,;	462	89	125	SUCCESS
AHNAK	79026	.	GRCh37	11	62289805	62289805	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	109	0	ENST00000378024.4:c.12084T>C	p.Gly4028=	p.G4028=	ENST00000378024	NM_001620.2	4028	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS31584.1	12084	RADIA|MUTECT|MUSE|VARSCANS	.	AGATCACCTTC	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,synonymous_variant,p.%3D,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	12359	109	106	SUCCESS
SCT	6343	.	GRCh37	11	626447	626447	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	311	42	287	0	ENST00000176195.3:c.350C>T	p.Thr117Ile	p.T117I	ENST00000176195	NM_021920.2	117	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS7709.1	350	RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGGTTCCT	NONE	.	.	hmmpanther:PTHR17378:SF0,hmmpanther:PTHR17378	.	.	ENSP00000176195	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000176195	Transcript	.	.	ENSG00000070031	10607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.507)	.	deleterious_low_confidence(0)	.	SECR_HUMAN	SCT	HGNC	.	.	UPI00001357C7	SNV	SCT,missense_variant,p.Thr117Ile,ENST00000176195,;CDHR5,upstream_gene_variant,,ENST00000526077,;CDHR5,upstream_gene_variant,,ENST00000397542,;CDHR5,upstream_gene_variant,,ENST00000531088,;CDHR5,upstream_gene_variant,,ENST00000349570,;CDHR5,upstream_gene_variant,,ENST00000534311,;CDHR5,upstream_gene_variant,,ENST00000358353,;CDHR5,upstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000531899,;CDHR5,upstream_gene_variant,,ENST00000531177,;	350	287	353	SUCCESS
MEN1	4221	.	GRCh37	11	64577275	64577275	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	22	113	0	ENST00000337652.1:c.307C>A	p.Leu103Met	p.L103M	ENST00000337652	NM_130803.2	103	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS8083.1	307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGGTCGA	NONE	.	.	hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3,Pfam_domain:PF05053	.	.	ENSP00000337088	.	2/10	.	.	.	.	.	.	.	.	CD972306	2/10	PASS	ENST00000337652	Transcript	.	.	ENSG00000133895	7010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.99)	.	deleterious(0.04)	.	MEN1_HUMAN	MEN1	HGNC	Q9GZQ5_HUMAN	.	UPI0000246DC0	SNV	MEN1,missense_variant,p.Leu103Met,ENST00000443283,;MEN1,missense_variant,p.Leu103Met,ENST00000394374,;MEN1,missense_variant,p.Leu103Met,ENST00000440873,;MEN1,missense_variant,p.Leu103Met,ENST00000424912,;MEN1,missense_variant,p.Leu103Met,ENST00000377326,;MEN1,missense_variant,p.Leu103Met,ENST00000394376,;MEN1,missense_variant,p.Leu103Met,ENST00000377316,;MEN1,missense_variant,p.Leu103Met,ENST00000413626,;MEN1,missense_variant,p.Leu103Met,ENST00000312049,;MEN1,missense_variant,p.Leu103Met,ENST00000315422,;MEN1,missense_variant,p.Leu103Met,ENST00000450708,;MEN1,missense_variant,p.Leu103Met,ENST00000377321,;MEN1,missense_variant,p.Leu103Met,ENST00000377313,;MEN1,missense_variant,p.Leu103Met,ENST00000429702,;MEN1,missense_variant,p.Leu103Met,ENST00000337652,;MEN1,upstream_gene_variant,,ENST00000478548,;MEN1,upstream_gene_variant,,ENST00000487019,;	811	113	126	SUCCESS
TIGD3	220359	.	GRCh37	11	65123857	65123857	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	34	0	ENST00000309880.5:c.578A>C	p.Asp193Ala	p.D193A	ENST00000309880	NM_145719.2	193	gAt/gCt	0	.	.	.	.	.	C	D/A	protein_coding	YES	CCDS8101.1	578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGATCAAG	NONE	.	.	hmmpanther:PTHR19303:SF163,hmmpanther:PTHR19303,Pfam_domain:PF03184	.	.	ENSP00000308354	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309880	Transcript	.	.	ENSG00000173825	18334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	.	deleterious(0.01)	.	TIGD3_HUMAN	TIGD3	HGNC	.	.	UPI000013EF51	SNV	TIGD3,missense_variant,p.Asp193Ala,ENST00000309880,;DPF2,downstream_gene_variant,,ENST00000531989,;DPF2,downstream_gene_variant,,ENST00000252268,;DPF2,downstream_gene_variant,,ENST00000415073,;DPF2,downstream_gene_variant,,ENST00000528416,;DPF2,downstream_gene_variant,,ENST00000524666,;DPF2,downstream_gene_variant,,ENST00000532052,;	785	34	70	SUCCESS
FRMD8	83786	.	GRCh37	11	65156924	65156924	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs746885699	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	33	0	ENST00000317568.5:c.178G>A	p.Ala60Thr	p.A60T	ENST00000317568	NM_031904.3	60	Gct/Act	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS8102.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGCGCTGTC	NONE	byFrequency	.	SMART_domains:SM00295,PROSITE_profiles:PS50057,hmmpanther:PTHR13283	.	.	ENSP00000319726	.	3/11	.	.	.	.	.	.	.	.	rs746885699	3/11	PASS	ENST00000317568	Transcript	.	.	ENSG00000126391	25462	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.21)	.	FRMD8_HUMAN	FRMD8	HGNC	Q96MK6_HUMAN,E9PRA3_HUMAN	.	UPI000000DAAC	SNV	FRMD8,missense_variant,p.Ala52Thr,ENST00000526201,;FRMD8,missense_variant,p.Ala60Thr,ENST00000317568,;FRMD8,missense_variant,p.Ala60Thr,ENST00000525156,;FRMD8,missense_variant,p.Ala60Thr,ENST00000416776,;FRMD8,intron_variant,,ENST00000533782,;FRMD8,intron_variant,,ENST00000355991,;FRMD8,downstream_gene_variant,,ENST00000531296,;FRMD8,non_coding_transcript_exon_variant,,ENST00000528854,;FRMD8,upstream_gene_variant,,ENST00000531151,;	341	33	40	SUCCESS
PCNXL3	0	.	GRCh37	11	65396885	65396885	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	rs757289428	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	112	0	ENST00000355703.3:c.3999T>C		p.X1333_splice	ENST00000355703	NM_032223.2	1333	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS44650.1	3999	RADIA|MUTECT|MUSE|VARSCANS	.	AACCCTGGTGT	NONE	.	.	hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	.	.	ENSP00000347931	.	25/35	.	.	.	.	.	.	.	.	rs757289428	25/35	PASS	ENST00000355703	Transcript	.	.	ENSG00000197136	18760	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCX3_HUMAN	PCNXL3	HGNC	.	.	UPI0000405B22	SNV	PCNXL3,synonymous_variant,p.%3D,ENST00000355703,;PCNXL3,upstream_gene_variant,,ENST00000531280,;PCNXL3,splice_region_variant,,ENST00000439247,;PCNXL3,downstream_gene_variant,,ENST00000530174,;	4538	112	108	SUCCESS
CCDC87	55231	.	GRCh37	11	66359567	66359567	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761906517	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	91	0	ENST00000333861.3:c.920G>A	p.Arg307Gln	p.R307Q	ENST00000333861	NM_018219.2	307	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS8145.1	920	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCGGAGC	NONE	byFrequency	.	hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1	.	.	ENSP00000328487	.	1/1	.	.	.	.	.	.	.	.	rs761906517	1/1	PASS	ENST00000333861	Transcript	.	.	ENSG00000182791	25579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.75)	.	CCD87_HUMAN	CCDC87	HGNC	.	.	UPI000013EFC2	SNV	CCDC87,missense_variant,p.Arg307Gln,ENST00000333861,;CCS,upstream_gene_variant,,ENST00000310190,;CCS,upstream_gene_variant,,ENST00000533244,;CCS,upstream_gene_variant,,ENST00000530961,;CCS,upstream_gene_variant,,ENST00000526058,;CCS,upstream_gene_variant,,ENST00000526066,;CCS,upstream_gene_variant,,ENST00000530384,;CCS,upstream_gene_variant,,ENST00000531990,;	988	91	78	SUCCESS
RBM14	10432	.	GRCh37	11	66391728	66391728	+	synonymous_variant	Silent	SNP	C	C	T	rs1303418529	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	59	204	0	ENST00000310137.4:c.381C>T	p.Ala127=	p.A127=	ENST00000310137	NM_006328.3	127	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8147.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCGCAAT	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF226,hmmpanther:PTHR24011,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000311747	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000310137	Transcript	.	.	ENSG00000239306	14219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM14_HUMAN	RBM14	HGNC	B4DNG4_HUMAN	.	UPI0000073D46	SNV	RBM14,missense_variant,p.Pro150Leu,ENST00000409372,;RBM14,synonymous_variant,p.%3D,ENST00000310137,;RBM14,synonymous_variant,p.%3D,ENST00000393979,;RBM14,3_prime_UTR_variant,,ENST00000443702,;RBM14-RBM4,intron_variant,,ENST00000412278,;RBM4,intron_variant,,ENST00000514361,;RBM4,intron_variant,,ENST00000503028,;RBM14-RBM4,intron_variant,,ENST00000500635,;RBM14,intron_variant,,ENST00000409738,;RBM14,non_coding_transcript_exon_variant,,ENST00000461478,;RBM14-RBM4,intron_variant,,ENST00000511114,;RBM14,downstream_gene_variant,,ENST00000496694,;RBM14-RBM4,intron_variant,,ENST00000421355,;	520	205	232	SUCCESS
LRP5	4041	.	GRCh37	11	68192642	68192642	+	synonymous_variant	Silent	SNP	C	C	T	rs141446007	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	62	0	ENST00000294304.7:c.3309C>T	p.Arg1103=	p.R1103=	ENST00000294304	NM_002335.2	1103	cgC/cgT	0	T:0.0009	T:0.0008	.	T:0	.	T	R	protein_coding	YES	CCDS8181.1	3309	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCGAGGT	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF63825,PIRSF_domain:PIRSF036314,SMART_domains:SM00135,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	T:0.001	T:0	ENSP00000294304	T:0	15/23	.	.	.	.	.	.	.	.	rs141446007	15/23	PASS	ENST00000294304	Transcript	.	T:0.0004	ENSG00000162337	6697	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	LRP5_HUMAN	LRP5	HGNC	E9PHY1_HUMAN	.	UPI0000073246	SNV	LRP5,synonymous_variant,p.%3D,ENST00000294304,;LRP5,3_prime_UTR_variant,,ENST00000529993,;	3415	62	70	SUCCESS
LRP5	4041	.	GRCh37	11	68201261	68201261	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs968164869	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	51	199	0	ENST00000294304.7:c.3955G>A	p.Gly1319Ser	p.G1319S	ENST00000294304	NM_002335.2	1319	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS8181.1	3955	RADIA|MUTECT|MUSE	.	GCGACGGCGAG	NONE	.	.	Prints_domain:PR00261,Superfamily_domains:SSF57424,PIRSF_domain:PIRSF036314,SMART_domains:SM00192,Pfam_domain:PF00057,Gene3D:4.10.400.10,PROSITE_patterns:PS01209,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS50068	.	.	ENSP00000294304	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000294304	Transcript	.	.	ENSG00000162337	6697	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	LRP5_HUMAN	LRP5	HGNC	E9PHY1_HUMAN	.	UPI0000073246	SNV	LRP5,missense_variant,p.Gly1319Ser,ENST00000294304,;LRP5,3_prime_UTR_variant,,ENST00000529993,;LRP5,upstream_gene_variant,,ENST00000533695,;	4061	199	178	SUCCESS
KRTAP5-11	440051	.	GRCh37	11	71293746	71293746	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	30	137	0	ENST00000398530.1:c.138C>T	p.Cys46=	p.C46=	ENST00000398530	NM_001005405.2	46	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS41685.1	138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCACAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262	.	.	ENSP00000381541	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000398530	Transcript	.	.	ENSG00000204571	23606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR511_HUMAN	KRTAP5-11	HGNC	.	.	UPI0000376063	SNV	KRTAP5-11,synonymous_variant,p.%3D,ENST00000398530,;AP000867.1,intron_variant,,ENST00000343767,;KRTAP5-11,intron_variant,,ENST00000526239,;KRTAP5-14P,upstream_gene_variant,,ENST00000502328,;	176	137	143	SUCCESS
CHRDL2	25884	.	GRCh37	11	74414512	74414512	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765250083	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	111	0	ENST00000376332.3:c.784G>A	p.Gly262Arg	p.G262R	ENST00000376332	NM_001278473.1	262	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS8234.1	784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCGTGGG	NONE	byFrequency	.	PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF226,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000263671	.	8/12	.	.	.	.	.	.	.	.	rs765250083,COSM1704393	8/12	PASS	ENST00000263671	Transcript	.	.	ENSG00000054938	24168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1	CRDL2_HUMAN	CHRDL2	HGNC	.	.	UPI0000034E41	SNV	CHRDL2,missense_variant,p.Gly262Arg,ENST00000263671,;CHRDL2,missense_variant,p.Gly62Arg,ENST00000525413,;CHRDL2,missense_variant,p.Gly262Arg,ENST00000376332,;CHRDL2,intron_variant,,ENST00000528789,;CHRDL2,non_coding_transcript_exon_variant,,ENST00000534159,;CHRDL2,3_prime_UTR_variant,,ENST00000528471,;CHRDL2,3_prime_UTR_variant,,ENST00000376324,;CHRDL2,3_prime_UTR_variant,,ENST00000534276,;AP001324.1,upstream_gene_variant,,ENST00000330802,;	1071	111	97	SUCCESS
KLHL35	283212	.	GRCh37	11	75140869	75140869	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	26	0	ENST00000539798.1:c.806G>A	p.Arg269His	p.R269H	ENST00000539798	NM_001039548.2	269	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS44685.2	806	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCGGCAC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,PIRSF_domain:PIRSF037037	.	.	ENSP00000438526	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000539798	Transcript	.	.	ENSG00000149243	26597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.53)	.	.	KLHL35	HGNC	F5H412_HUMAN	.	UPI0001B723C7	SNV	KLHL35,missense_variant,p.Arg49His,ENST00000376292,;KLHL35,missense_variant,p.Arg269His,ENST00000539798,;GDPD5,downstream_gene_variant,,ENST00000336898,;GDPD5,downstream_gene_variant,,ENST00000533805,;GDPD5,downstream_gene_variant,,ENST00000526177,;GDPD5,downstream_gene_variant,,ENST00000533784,;GDPD5,downstream_gene_variant,,ENST00000443276,;GDPD5,downstream_gene_variant,,ENST00000376282,;GDPD5,downstream_gene_variant,,ENST00000529721,;KLHL35,non_coding_transcript_exon_variant,,ENST00000460787,;GDPD5,downstream_gene_variant,,ENST00000527820,;KLHL35,upstream_gene_variant,,ENST00000527491,;	806	26	39	SUCCESS
GAB2	9846	.	GRCh37	11	77934490	77934490	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	161	23	153	0	ENST00000361507.4:c.1535del	p.Pro512LeufsTer19	p.P512Lfs*19	ENST00000361507	NM_080491.2	512	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS8259.1	1535	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGACAGGGGGT	NONE	.	.	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF4	.	.	ENSP00000354952	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000361507	Transcript	.	.	ENSG00000033327	14458	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GAB2_HUMAN	GAB2	HGNC	E9PJE2_HUMAN,E9PJ26_HUMAN	.	UPI0000073037	deletion	GAB2,frameshift_variant,p.Pro512LeufsTer19,ENST00000361507,;GAB2,frameshift_variant,p.Pro474LeufsTer19,ENST00000340149,;GAB2,downstream_gene_variant,,ENST00000526030,;GAB2,downstream_gene_variant,,ENST00000528329,;	1621	153	184	SUCCESS
MTNR1B	4544	.	GRCh37	11	92714946	92714946	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1347056510	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	13	81	0	ENST00000257068.2:c.557G>A	p.Arg186His	p.R186H	ENST00000257068	NM_005959.3	186	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8290.1	557	RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGCATCT	SITE|p.R186H|c.557G>A|3	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00857	.	.	ENSP00000257068	.	2/2	.	.	.	.	.	.	.	.	COSM933307	2/2	PASS	ENST00000257068	Transcript	.	.	ENSG00000134640	7464	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.373)	.	tolerated(0.09)	1	MTR1B_HUMAN	MTNR1B	HGNC	Q8TEV7_HUMAN	.	UPI0000050408	SNV	MTNR1B,missense_variant,p.Arg186His,ENST00000257068,;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	563	81	99	SUCCESS
KIAA1731	0	.	GRCh37	11	93429506	93429506	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	58	0	ENST00000325212.6:c.1692A>G	p.Ser564=	p.S564=	ENST00000325212		564	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS44708.1	1692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCATGCCC	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22	.	.	ENSP00000316681	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000325212	Transcript	.	.	ENSG00000166004	29366	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1731_HUMAN	KIAA1731	HGNC	E9PM20_HUMAN	.	UPI0000251F0E	SNV	KIAA1731,synonymous_variant,p.%3D,ENST00000531877,;KIAA1731,synonymous_variant,p.%3D,ENST00000325212,;KIAA1731,synonymous_variant,p.%3D,ENST00000411936,;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;KIAA1731,5_prime_UTR_variant,,ENST00000531700,;KIAA1731,upstream_gene_variant,,ENST00000530425,;KIAA1731,downstream_gene_variant,,ENST00000531622,;	1854	58	47	SUCCESS
TAF1D	79101	.	GRCh37	11	93471438	93471438	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	rs774258466	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	78	0	ENST00000323981.2:c.296A>G	p.Tyr99Cys	p.Y99C	ENST00000323981		99	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS8293.1	296	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGTACCTC	NONE	.	.	hmmpanther:PTHR14562,Pfam_domain:PF15333	.	.	ENSP00000410409	.	3/6	.	.	.	.	.	.	.	.	rs774258466	3/6	PASS	ENST00000448108	Transcript	.	.	ENSG00000166012	28759	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.02)	.	TAF1D_HUMAN	TAF1D	HGNC	H0YG36_HUMAN	.	UPI000006D0AF	SNV	TAF1D,missense_variant,p.Tyr99Cys,ENST00000448108,;TAF1D,3_prime_UTR_variant,,ENST00000532455,;C11orf54,upstream_gene_variant,,ENST00000530620,;C11orf54,upstream_gene_variant,,ENST00000528099,;C11orf54,upstream_gene_variant,,ENST00000533585,;C11orf54,upstream_gene_variant,,ENST00000530279,;C11orf54,upstream_gene_variant,,ENST00000331239,;TAF1D,downstream_gene_variant,,ENST00000527690,;C11orf54,upstream_gene_variant,,ENST00000527003,;C11orf54,upstream_gene_variant,,ENST00000531650,;C11orf54,upstream_gene_variant,,ENST00000540113,;C11orf54,upstream_gene_variant,,ENST00000528288,;C11orf54,upstream_gene_variant,,ENST00000354421,;SNORD5,upstream_gene_variant,,ENST00000459342,;SNORA40,upstream_gene_variant,,ENST00000388090,;SNORA18,upstream_gene_variant,,ENST00000384416,;MIR1304,upstream_gene_variant,,ENST00000408243,;TAF1D,intron_variant,,ENST00000532235,;TAF1D,upstream_gene_variant,,ENST00000530089,;TAF1D,upstream_gene_variant,,ENST00000546088,;C11orf54,upstream_gene_variant,,ENST00000531516,;TAF1D,missense_variant,p.Tyr99Cys,ENST00000323981,;TAF1D,missense_variant,p.Tyr99Cys,ENST00000527169,;TAF1D,missense_variant,p.Tyr99Cys,ENST00000526015,;TAF1D,3_prime_UTR_variant,,ENST00000534770,;TAF1D,non_coding_transcript_exon_variant,,ENST00000527068,;TAF1D,upstream_gene_variant,,ENST00000533794,;TAF1D,upstream_gene_variant,,ENST00000528734,;TAF1D,upstream_gene_variant,,ENST00000540232,;TAF1D,upstream_gene_variant,,ENST00000529794,;TAF1D,upstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000529508,;TAF1D,upstream_gene_variant,,ENST00000393259,;TAF1D,upstream_gene_variant,,ENST00000530769,;TAF1D,upstream_gene_variant,,ENST00000525928,;	947	78	71	SUCCESS
MAPKAPK5	8550	.	GRCh37	12	112327908	112327908	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	19	98	0	ENST00000551404.2:c.1287C>T	p.Cys429=	p.C429=	ENST00000551404		429	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS44975.1	1287	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCAAACT	NONE	.	.	hmmpanther:PTHR24349	.	.	ENSP00000449381	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000551404	Transcript	.	.	ENSG00000089022	6889	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAPK5_HUMAN	MAPKAPK5	HGNC	.	.	UPI0000161429	SNV	MAPKAPK5,synonymous_variant,p.%3D,ENST00000550735,;MAPKAPK5,synonymous_variant,p.%3D,ENST00000551404,;MAPKAPK5,synonymous_variant,p.%3D,ENST00000549875,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000547067,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000552111,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000547915,;MAPKAPK5,downstream_gene_variant,,ENST00000553053,;	1395	98	92	SUCCESS
DTX1	1840	.	GRCh37	12	113534661	113534661	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	60	0	ENST00000257600.3:c.1780G>A	p.Gly594Ser	p.G594S	ENST00000257600	NM_004416.2	594	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS9164.1	1780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGGCTAC	NONE	.	.	hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF7	.	.	ENSP00000257600	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000257600	Transcript	.	.	ENSG00000135144	3060	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	DTX1_HUMAN	DTX1	HGNC	.	.	UPI000013CF71	SNV	DTX1,missense_variant,p.Gly594Ser,ENST00000257600,;RASAL1,downstream_gene_variant,,ENST00000261729,;RASAL1,downstream_gene_variant,,ENST00000548055,;RASAL1,downstream_gene_variant,,ENST00000446861,;RASAL1,downstream_gene_variant,,ENST00000546530,;DTX1,non_coding_transcript_exon_variant,,ENST00000547974,;RASAL1,downstream_gene_variant,,ENST00000549444,;DTX1,downstream_gene_variant,,ENST00000553140,;DTX1,downstream_gene_variant,,ENST00000547730,;RASAL1,downstream_gene_variant,,ENST00000546727,;RASAL1,downstream_gene_variant,,ENST00000551051,;	2283	60	41	SUCCESS
RBM19	9904	.	GRCh37	12	114392958	114392958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	82	0	ENST00000261741.5:c.899G>T	p.Gly300Val	p.G300V	ENST00000261741	NM_016196.3	300	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS9172.1	899	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCCCCGC	NONE	.	.	PROSITE_profiles:PS50102,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000442053	.	7/25	.	.	.	.	.	.	.	.	.	7/25	PASS	ENST00000545145	Transcript	.	.	ENSG00000122965	29098	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	RBM19_HUMAN	RBM19	HGNC	.	.	UPI000013D1EC	SNV	RBM19,missense_variant,p.Gly300Val,ENST00000545145,;RBM19,missense_variant,p.Gly300Val,ENST00000392561,;RBM19,missense_variant,p.Gly300Val,ENST00000261741,;RBM19,downstream_gene_variant,,ENST00000546876,;	978	82	66	SUCCESS
MLXIP	22877	.	GRCh37	12	122625584	122625584	+	synonymous_variant	Silent	SNP	G	G	A	rs561027162	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	42	0	ENST00000319080.7:c.2592G>A	p.Ala864=	p.A864=	ENST00000319080	NM_014938.4_dupl16	864	gcG/gcA	0	.	A:0	.	A:0	.	A	A	protein_coding	YES	.	2592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCGCTCTC	NONE	byFrequency|by1000G	.	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	A:0.001	.	ENSP00000312834	A:0.001	16/17	.	.	.	.	.	.	.	.	rs561027162	16/17	PASS	ENST00000319080	Transcript	.	A:0.0004	ENSG00000175727	17055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,synonymous_variant,p.%3D,ENST00000538698,;MLXIP,synonymous_variant,p.%3D,ENST00000319080,;MLXIP,downstream_gene_variant,,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000366272,;MLXIP,downstream_gene_variant,,ENST00000541750,;	2724	42	38	SUCCESS
PITPNM2	57605	.	GRCh37	12	123481370	123481370	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	53	109	0	ENST00000320201.4:c.1560C>A	p.Ser520=	p.S520=	ENST00000320201	NM_020845.2	520	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS9242.1	1560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGGAGGT	NONE	.	.	hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41	.	.	ENSP00000322218	.	11/25	.	.	.	.	.	.	.	.	.	11/25	PASS	ENST00000320201	Transcript	.	.	ENSG00000090975	21044	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PITM2_HUMAN	PITPNM2	HGNC	Q9UF51_HUMAN,F5H664_HUMAN	.	UPI0000070D27	SNV	PITPNM2,synonymous_variant,p.%3D,ENST00000542749,;PITPNM2,synonymous_variant,p.%3D,ENST00000280562,;PITPNM2,synonymous_variant,p.%3D,ENST00000392428,;PITPNM2,synonymous_variant,p.%3D,ENST00000320201,;PITPNM2,downstream_gene_variant,,ENST00000546049,;PITPNM2,downstream_gene_variant,,ENST00000451868,;PITPNM2,downstream_gene_variant,,ENST00000436074,;	1699	109	95	SUCCESS
TMEM132D	121256	.	GRCh37	12	130015679	130015679	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs540786652	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	4	78	0	ENST00000422113.2:c.1040A>G	p.Glu347Gly	p.E347G	ENST00000422113	NM_133448.2	347	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS9266.1	1040	MUTECT|MUSE	.	TGCGCTCCTTG	NONE	.	.	hmmpanther:PTHR13388	.	.	ENSP00000408581	.	3/9	.	.	.	.	.	.	.	.	rs540786652	3/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.098)	.	deleterious(0.01)	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,missense_variant,p.Glu347Gly,ENST00000422113,;	1367	78	97	SUCCESS
FZD10	11211	.	GRCh37	12	130648315	130648315	+	synonymous_variant	Silent	SNP	C	C	T	rs1566096392	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	45	1	ENST00000229030.4:c.828C>T	p.Gly276=	p.G276=	ENST00000229030		276	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS9267.1	828	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGGGCTACCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,synonymous_variant,p.%3D,ENST00000539839,;FZD10,synonymous_variant,p.%3D,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	1312	46	72	SUCCESS
STX2	2054	.	GRCh37	12	131283121	131283121	+	synonymous_variant	Silent	SNP	G	G	A	rs763763318	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	62	0	ENST00000392373.2:c.735C>T	p.His245=	p.H245=	ENST00000392373	NM_194356.2	245	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS9270.1	735	RADIA|MUTECT|MUSE	.	TTAGCGTGTTC	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50192,hmmpanther:PTHR19957:SF36,hmmpanther:PTHR19957,Pfam_domain:PF05739,Gene3D:1.20.5.110,SMART_domains:SM00397,Superfamily_domains:SSF47661	.	.	ENSP00000376178	.	9/11	.	.	.	.	.	.	.	.	rs763763318	9/11	PASS	ENST00000392373	Transcript	.	.	ENSG00000111450	3403	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STX2_HUMAN	STX2	HGNC	.	.	UPI00001D69FD	SNV	STX2,synonymous_variant,p.%3D,ENST00000392373,;STX2,synonymous_variant,p.%3D,ENST00000261653,;STX2,non_coding_transcript_exon_variant,,ENST00000540889,;STX2,downstream_gene_variant,,ENST00000344271,;	830	62	70	SUCCESS
ATF7IP	55729	.	GRCh37	12	14628887	14628887	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	68	162	1	ENST00000261168.4:c.2926A>T	p.Ser976Cys	p.S976C	ENST00000261168	NM_018179.3	976	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS8663.1	2926	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGAGTGGA	NONE	.	.	hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210	.	.	ENSP00000261168	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000261168	Transcript	.	.	ENSG00000171681	20092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.05)	.	MCAF1_HUMAN	ATF7IP	HGNC	F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN	.	UPI00001FB6B1	SNV	ATF7IP,missense_variant,p.Ser976Cys,ENST00000261168,;ATF7IP,missense_variant,p.Ser976Cys,ENST00000540793,;ATF7IP,missense_variant,p.Ser975Cys,ENST00000543189,;ATF7IP,missense_variant,p.Ser984Cys,ENST00000544627,;ATF7IP,missense_variant,p.Ser975Cys,ENST00000536444,;ATF7IP,upstream_gene_variant,,ENST00000535738,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000535179,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	3079	163	165	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19418725	19418725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	9	196	0	ENST00000299275.6:c.652A>G	p.Ser218Gly	p.S218G	ENST00000299275	NM_019012.5	218	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS58213.1	652	MUTECT|MUSE	.	TACCTAGTTTT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000404296	.	8/32	.	.	.	.	.	.	.	.	.	8/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.949)	.	deleterious(0)	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,missense_variant,p.Ser110Gly,ENST00000424268,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000317589,;PLEKHA5,missense_variant,p.Ser110Gly,ENST00000543806,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000429027,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000538714,;PLEKHA5,missense_variant,p.Ser110Gly,ENST00000536974,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000299275,;PLEKHA5,missense_variant,p.Ser110Gly,ENST00000538305,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000355397,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000309364,;PLEKHA5,missense_variant,p.Ser218Gly,ENST00000359180,;PLEKHA5,5_prime_UTR_variant,,ENST00000539256,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;	684	196	244	SUCCESS
GYS2	2998	.	GRCh37	12	21693401	21693401	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	20	118	0	ENST00000261195.2:c.1752C>A	p.Ile584=	p.I584=	ENST00000261195	NM_021957.3	584	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS8690.1	1752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGGATAAT	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF05693,hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176,Low_complexity_(Seg):seg	.	.	ENSP00000261195	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000261195	Transcript	.	.	ENSG00000111713	4707	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GYS2_HUMAN	GYS2	HGNC	.	.	UPI000013D13D	SNV	GYS2,synonymous_variant,p.%3D,ENST00000261195,;C12orf39,downstream_gene_variant,,ENST00000537527,;	2007	118	113	SUCCESS
ABCC9	10060	.	GRCh37	12	21960410	21960410	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs767586816	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	45	72	0	ENST00000261201.4:c.4319C>T	p.Ala1440Val	p.A1440V	ENST00000261201	NM_005691.2	1440	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8693.1	4319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCGCATCT	NONE	byFrequency	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	.	.	ENSP00000261200	.	36/38	.	.	.	.	.	.	.	.	rs767586816,COSM937992,COSM692782,COSM1586352,COSM1146977	36/38	PASS	ENST00000261200	Transcript	.	.	ENSG00000069431	60	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1,1	.	.	benign(0.213)	.	deleterious(0.02)	0,1,1,1,1	ABCC9_HUMAN	ABCC9	HGNC	Q8N9N1_HUMAN	.	UPI000013D13F	SNV	ABCC9,missense_variant,p.Ala1404Val,ENST00000345162,;ABCC9,missense_variant,p.Ala1440Val,ENST00000261201,;ABCC9,missense_variant,p.Ala1067Val,ENST00000544039,;ABCC9,missense_variant,p.Ala1440Val,ENST00000261200,;	4319	72	95	SUCCESS
CACNA1C	775	.	GRCh37	12	2719737	2719737	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs888326149	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	57	98	0	ENST00000347598.4:c.3649C>T	p.Arg1217Trp	p.R1217W	ENST00000347598	NM_199460.2	1217	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS44788.1	3649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCGGCCC	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188	.	.	ENSP00000266376	.	29/49	.	.	.	.	.	.	.	.	.	29/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	SNV	CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399644,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399595,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000406454,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399617,;CACNA1C,missense_variant,p.Arg1217Trp,ENST00000347598,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000402845,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000327702,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399634,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399641,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399603,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399629,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000480911,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399601,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399597,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399655,;CACNA1C,missense_variant,p.Arg1217Trp,ENST00000399606,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399637,;CACNA1C,missense_variant,p.Arg1222Trp,ENST00000335762,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399621,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399638,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399591,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000344100,;CACNA1C,missense_variant,p.Arg1197Trp,ENST00000399649,;CACNA1C-AS3,upstream_gene_variant,,ENST00000543559,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000496818,;	3649	98	140	SUCCESS
CACNA1C	775	.	GRCh37	12	2791754	2791756	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	50	0	ENST00000347598.4:c.5632_5634del	p.Glu1878del	p.E1878del	ENST00000347598	NM_199460.2	1876	cAGGag/cag	0	.	.	.	.	.	-	QE/Q	protein_coding	YES	CCDS44788.1	5627-5629	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGTCAGGAGGAG	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188	.	.	ENSP00000266376	.	45/49	.	.	.	.	.	.	.	.	.	45/49	PASS	ENST00000347598	Transcript	.	.	ENSG00000151067	1390	5	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAC1C_HUMAN	CACNA1C	HGNC	Q86XX0_HUMAN,O95234_HUMAN	.	UPI0000E593E5	deletion	CACNA1C,inframe_deletion,p.Glu1830del,ENST00000399644,;CACNA1C,inframe_deletion,p.Glu1838del,ENST00000399595,;CACNA1C,inframe_deletion,p.Glu1901del,ENST00000406454,;CACNA1C,inframe_deletion,p.Glu1865del,ENST00000399617,;CACNA1C,inframe_deletion,p.Glu1878del,ENST00000347598,;CACNA1C,inframe_deletion,p.Glu1849del,ENST00000402845,;CACNA1C,inframe_deletion,p.Glu1865del,ENST00000327702,;CACNA1C,inframe_deletion,p.Glu1901del,ENST00000399634,;CACNA1C,inframe_deletion,p.Glu1830del,ENST00000399641,;CACNA1C,inframe_deletion,p.Glu1830del,ENST00000399603,;CACNA1C,inframe_deletion,p.Glu1847del,ENST00000399629,;CACNA1C,inframe_deletion,p.Glu1830del,ENST00000399601,;CACNA1C,inframe_deletion,p.Glu1830del,ENST00000399597,;CACNA1C,inframe_deletion,p.Glu1830del,ENST00000399655,;CACNA1C,inframe_deletion,p.Glu1850del,ENST00000399606,;CACNA1C,inframe_deletion,p.Glu1849del,ENST00000399637,;CACNA1C,inframe_deletion,p.Glu1855del,ENST00000335762,;CACNA1C,inframe_deletion,p.Glu1838del,ENST00000399591,;CACNA1C,inframe_deletion,p.Glu1849del,ENST00000399621,;CACNA1C,inframe_deletion,p.Glu1858del,ENST00000399638,;CACNA1C,inframe_deletion,p.Glu1871del,ENST00000344100,;CACNA1C,inframe_deletion,p.Glu1836del,ENST00000399649,;CACNA1C-AS1,intron_variant,,ENST00000501371,;CACNA1C,downstream_gene_variant,,ENST00000465934,;	5627-5629	50	45	SUCCESS
KLHL42	57542	.	GRCh37	12	27933999	27933999	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	16	84	0	ENST00000381271.2:c.736T>C	p.Tyr246His	p.Y246H	ENST00000381271	NM_020782.1	246	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS31763.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTATGGG	NONE	.	.	hmmpanther:PTHR24412:SF54,hmmpanther:PTHR24412,Gene3D:1zgkA00,Pfam_domain:PF01344,Superfamily_domains:0052715	.	.	ENSP00000370671	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000381271	Transcript	.	.	ENSG00000087448	29252	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.18)	.	KLH42_HUMAN	KLHL42	HGNC	B2RNT7_HUMAN	.	UPI0000185FB1	SNV	KLHL42,missense_variant,p.Tyr246His,ENST00000381271,;KLHL42,missense_variant,p.Tyr68His,ENST00000543254,;RP11-860B13.1,non_coding_transcript_exon_variant,,ENST00000545904,;KLHL42,missense_variant,p.Tyr246His,ENST00000539176,;	1047	84	86	SUCCESS
DYRK4	8798	.	GRCh37	12	4714102	4714102	+	synonymous_variant	Silent	SNP	G	G	A	rs554834276	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	20	118	1	ENST00000010132.5:c.804G>A	p.Arg268=	p.R268=	ENST00000010132		268	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8530.1	804	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGGTTCTA	NONE	byCluster	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24058:SF22,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000441755	.	9/13	.	.	.	.	.	.	.	.	rs554834276	9/13	PASS	ENST00000540757	Transcript	.	.	ENSG00000010219	3095	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYRK4_HUMAN	DYRK4	HGNC	D3JEN3_HUMAN,D3JEN2_HUMAN,B4DQW1_HUMAN	.	UPI000006E05C	SNV	DYRK4,synonymous_variant,p.%3D,ENST00000540757,;DYRK4,synonymous_variant,p.%3D,ENST00000542744,;DYRK4,synonymous_variant,p.%3D,ENST00000010132,;DYRK4,synonymous_variant,p.%3D,ENST00000543431,;DYRK4,upstream_gene_variant,,ENST00000545342,;DYRK4,non_coding_transcript_exon_variant,,ENST00000545571,;DYRK4,non_coding_transcript_exon_variant,,ENST00000540644,;RP11-500M8.7,upstream_gene_variant,,ENST00000536588,;DYRK4,upstream_gene_variant,,ENST00000536137,;RP11-234B24.5,upstream_gene_variant,,ENST00000538921,;	964	119	117	SUCCESS
GALNT8	26290	.	GRCh37	12	4854653	4854653	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs761176369	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	24	126	1	ENST00000252318.2:c.919T>C	p.Phe307Leu	p.F307L	ENST00000252318	NM_017417.1	307	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS8533.1	919	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGTTTGAC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000252318	.	5/11	.	.	.	.	.	.	.	.	rs761176369	5/11	PASS	ENST00000252318	Transcript	.	.	ENSG00000130035	4130	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.34)	.	tolerated(0.05)	.	GALT8_HUMAN	GALNT8	HGNC	Q68VJ3_HUMAN	.	UPI0000070DEC	SNV	GALNT8,missense_variant,p.Phe307Leu,ENST00000252318,;RP11-234B24.6,downstream_gene_variant,,ENST00000544741,;	1256	128	131	SUCCESS
FMNL3	91010	.	GRCh37	12	50042064	50042064	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	11	65	0	ENST00000335154.5:c.2588G>C	p.Ser863Thr	p.S863T	ENST00000335154	NM_175736.4	863	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS44874.1	2588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCTGCAC	NONE	.	.	Superfamily_domains:SSF101447,SMART_domains:SM00498,Pfam_domain:PF02181,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF29,PROSITE_profiles:PS51444	.	.	ENSP00000335655	.	22/26	.	.	.	.	.	.	.	.	.	22/26	PASS	ENST00000335154	Transcript	.	.	ENSG00000161791	23698	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.083)	.	tolerated(0.57)	.	FMNL3_HUMAN	FMNL3	HGNC	.	.	UPI00001FC1CB	SNV	FMNL3,missense_variant,p.Ser863Thr,ENST00000550488,;FMNL3,missense_variant,p.Ser863Thr,ENST00000335154,;FMNL3,missense_variant,p.Ser863Thr,ENST00000293590,;FMNL3,missense_variant,p.Ser812Thr,ENST00000352151,;PRPF40B,downstream_gene_variant,,ENST00000548825,;PRPF40B,downstream_gene_variant,,ENST00000261897,;PRPF40B,downstream_gene_variant,,ENST00000380281,;FMNL3,non_coding_transcript_exon_variant,,ENST00000549137,;PRPF40B,downstream_gene_variant,,ENST00000549547,;PRPF40B,downstream_gene_variant,,ENST00000551269,;	2822	65	80	SUCCESS
KRT79	338785	.	GRCh37	12	53227586	53227586	+	synonymous_variant	Silent	SNP	G	G	A	rs376301539	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	86	0	ENST00000330553.5:c.459C>T	p.Phe153=	p.F153=	ENST00000330553	NM_175834.2	153	ttC/ttT	0	A:0.0007	.	.	.	.	A	F	protein_coding	YES	CCDS8839.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGAACTT	SITE|p.F153F|c.459C>T|3	byFrequency|byCluster	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Coiled-coils_(Ncoils):Coil	.	A:0.0001	ENSP00000328358	.	1/9	.	.	.	.	.	.	.	.	rs376301539,COSM1299557	1/9	PASS	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,synonymous_variant,p.%3D,ENST00000330553,;KRT78,downstream_gene_variant,,ENST00000359499,;KRT79,upstream_gene_variant,,ENST00000546453,;RP11-153F5.3,upstream_gene_variant,,ENST00000550463,;	494	86	84	SUCCESS
OR6C75	390323	.	GRCh37	12	55758921	55758921	+	synonymous_variant	Silent	SNP	C	C	T	rs779669359	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	6	43	0	ENST00000343399.3:c.27C>T	p.Asp9=	p.D9=	ENST00000343399	NM_001005497.1	9	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS31820.1	27	MUTECT|MUSE	.	ACAGACTTTAT	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52	.	.	ENSP00000368987	.	1/1	.	.	.	.	.	.	.	.	rs779669359	1/1	PASS	ENST00000343399	Transcript	.	.	ENSG00000187857	31304	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O6C75_HUMAN	OR6C75	HGNC	.	.	UPI000023786C	SNV	OR6C75,synonymous_variant,p.%3D,ENST00000343399,;	27	43	41	SUCCESS
RPS26	6231	.	GRCh37	12	56435784	56435784	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	30	0	ENST00000356464.5:c.-167C>T		p.*56*	ENST00000356464				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31832.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCACCCTAGAT	NONE	.	.	.	.	.	ENSP00000348849	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000356464	Transcript	.	.	ENSG00000197728	10414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RS26_HUMAN	RPS26	HGNC	Q76N57_HUMAN,Q76N56_HUMAN	.	UPI0000001687	SNV	RPS26,5_prime_UTR_variant,,ENST00000356464,;RPS26,5_prime_UTR_variant,,ENST00000552361,;IKZF4,downstream_gene_variant,,ENST00000262032,;RP11-603J24.4,upstream_gene_variant,,ENST00000551846,;RPS26,upstream_gene_variant,,ENST00000548590,;IKZF4,downstream_gene_variant,,ENST00000551124,;	148	30	28	SUCCESS
LRP1	4035	.	GRCh37	12	57605934	57605934	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	15	160	0	ENST00000243077.3:c.13387del	p.Ala4463ProfsTer2	p.A4463Pfs*2	ENST00000243077	NM_002332.2	4462	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS8932.1	13384	INDELOCATOR|VARSCANI	.	ACCAACGGGGCC	NONE	.	.	.	.	.	ENSP00000243077	.	88/89	.	.	.	.	.	.	.	.	.	88/89	PASS	ENST00000243077	Transcript	.	.	ENSG00000123384	6692	3	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP1_HUMAN	LRP1	HGNC	Q6LBN5_HUMAN,Q6LAF4_HUMAN	.	UPI00001B044F	deletion	LRP1,frameshift_variant,p.Ala4463ProfsTer2,ENST00000243077,;NXPH4,upstream_gene_variant,,ENST00000349394,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;NXPH4,upstream_gene_variant,,ENST00000556415,;	13850	161	142	SUCCESS
GLI1	2735	.	GRCh37	12	57858504	57858504	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1289476480	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	85	0	ENST00000228682.2:c.242G>T	p.Arg81Leu	p.R81L	ENST00000228682	NM_005269.2	81	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS8940.1	242	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGGGCAC	NONE	.	.	hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818	.	.	ENSP00000228682	.	4/12	.	.	.	.	.	.	.	.	COSM4043851	4/12	PASS	ENST00000228682	Transcript	.	.	ENSG00000111087	4317	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	probably_damaging(0.994)	.	deleterious(0)	1	GLI1_HUMAN	GLI1	HGNC	F5H6H8_HUMAN,E9PQQ1_HUMAN,E9PIB9_HUMAN,B1Q2M2_HUMAN	.	UPI000012B607	SNV	GLI1,missense_variant,p.Arg81Leu,ENST00000228682,;GLI1,missense_variant,p.Arg40Leu,ENST00000546141,;GLI1,missense_variant,p.Arg40Leu,ENST00000528467,;GLI1,missense_variant,p.Arg81Leu,ENST00000528432,;GLI1,5_prime_UTR_variant,,ENST00000532291,;GLI1,5_prime_UTR_variant,,ENST00000543426,;GLI1,non_coding_transcript_exon_variant,,ENST00000530789,;GLI1,upstream_gene_variant,,ENST00000527742,;	333	86	74	SUCCESS
B4GALNT3	283358	.	GRCh37	12	668587	668587	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	15	110	0	ENST00000266383.5:c.2888G>A	p.Arg963Lys	p.R963K	ENST00000266383	NM_173593.3	963	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS8504.1	2888	RADIA|MUTECT|MUSE|VARSCANS	.	GGACAGGTGAC	NONE	.	.	hmmpanther:PTHR12369:SF15,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448	.	.	ENSP00000266383	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000266383	Transcript	.	.	ENSG00000139044	24137	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	B4GN3_HUMAN	B4GALNT3	HGNC	.	.	UPI0000366851	SNV	B4GALNT3,missense_variant,p.Arg963Lys,ENST00000266383,;B4GALNT3,downstream_gene_variant,,ENST00000322843,;NINJ2,downstream_gene_variant,,ENST00000305108,;NINJ2,downstream_gene_variant,,ENST00000397265,;B4GALNT3,splice_region_variant,,ENST00000535402,;	2901	110	130	SUCCESS
LEPREL2	0	.	GRCh37	12	6947183	6947183	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs369842284	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	16	85	0	ENST00000290510.8:n.1424G>A		p.*475*	ENST00000290510		630		0	A:0.0002	A:0	.	A:0	.	A	A/T	protein_coding	YES	.	1888	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGCCCTC	NONE	byFrequency|byCluster|by1000G	.	SMART_domains:SM00702,Pfam_domain:PF13640,hmmpanther:PTHR14049:SF14,hmmpanther:PTHR14049,PROSITE_profiles:PS51471	A:0	A:0.0004	ENSP00000379951	A:0.001	14/16	.	.	.	.	.	.	.	.	rs369842284	14/16	PASS	ENST00000396725	Transcript	.	.	ENSG00000110811	19318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	A:0	tolerated(0.11)	.	.	LEPREL2	HGNC	G8JLI6_HUMAN	.	UPI00001AF55A	SNV	LEPREL2,missense_variant,p.Ala446Thr,ENST00000251761,;LEPREL2,missense_variant,p.Ala630Thr,ENST00000396725,;GNB3,upstream_gene_variant,,ENST00000435982,;GNB3,upstream_gene_variant,,ENST00000541257,;GNB3,upstream_gene_variant,,ENST00000229264,;GNB3,upstream_gene_variant,,ENST00000537035,;GNB3,upstream_gene_variant,,ENST00000541978,;LEPREL2,downstream_gene_variant,,ENST00000538102,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000290510,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000536140,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544200,;LEPREL2,downstream_gene_variant,,ENST00000544949,;GNB3,upstream_gene_variant,,ENST00000540458,;GNB3,upstream_gene_variant,,ENST00000542868,;LEPREL2,downstream_gene_variant,,ENST00000541956,;LEPREL2,downstream_gene_variant,,ENST00000545596,;LEPREL2,downstream_gene_variant,,ENST00000540406,;LEPREL2,downstream_gene_variant,,ENST00000542976,;GNB3,upstream_gene_variant,,ENST00000539127,;LEPREL2,synonymous_variant,p.%3D,ENST00000606935,;	1922	85	91	SUCCESS
PTPRB	5787	.	GRCh37	12	70983909	70983909	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	13	131	0	ENST00000261266.5:c.1231C>T	p.Leu411=	p.L411=	ENST00000261266	NM_002837.4	411	Cta/Tta	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS44943.1	1885	MUTECT|MUSE	.	GAGTAGGATCC	BUFFER|p.L412P|c.1235T>C|5,BUFFER|p.L412P|c.1235T>C|6,BUFFER|p.L630P|c.1889T>C|5	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000551525,;PTPRB,synonymous_variant,p.%3D,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;	1930	131	134	SUCCESS
PTPRB	5787	.	GRCh37	12	70983921	70983921	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	12	135	0	ENST00000261266.5:c.1219C>T	p.Gln407Ter	p.Q407*	ENST00000261266	NM_002837.4	407	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS44943.1	1873	MUTECT|MUSE	.	ATACTGCTCCC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000334928	.	8/34	.	.	.	.	.	.	.	.	.	8/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,stop_gained,p.Gln407Ter,ENST00000538708,;PTPRB,stop_gained,p.Gln407Ter,ENST00000261266,;PTPRB,stop_gained,p.Gln625Ter,ENST00000334414,;PTPRB,stop_gained,p.Gln625Ter,ENST00000550358,;PTPRB,stop_gained,p.Gln624Ter,ENST00000551525,;PTPRB,stop_gained,p.Gln504Ter,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;	1918	135	135	SUCCESS
CLSTN3	9746	.	GRCh37	12	7310163	7310163	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs575113186	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	39	70	1	ENST00000266546.6:c.2606G>A	p.Arg869His	p.R869H	ENST00000266546	NM_014718.3	869	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8575.1	2606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGCATCC	NONE	byCluster	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5	.	.	ENSP00000266546	.	17/18	.	.	.	.	.	.	.	.	rs575113186	17/18	PASS	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0.01)	.	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	SNV	CLSTN3,missense_variant,p.Arg881His,ENST00000537408,;CLSTN3,missense_variant,p.Arg869His,ENST00000266546,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000535313,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000331148,;	3056	71	79	SUCCESS
CAPS2	84698	.	GRCh37	12	75678791	75678791	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764447136	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	49	0	ENST00000409445.3:c.1522C>T	p.Arg508Cys	p.R508C	ENST00000409445	NM_032606.3	508	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS9008.2	1522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGTTTGA	NONE	byFrequency	.	Superfamily_domains:SSF47473,SMART_domains:SM00054,Pfam_domain:PF13499,Gene3D:1.10.238.10,hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891,PROSITE_profiles:PS50222	.	.	ENSP00000386959	.	16/18	.	.	.	.	.	.	.	.	rs764447136,COSM1364198,COSM1364197	16/18	PASS	ENST00000409445	Transcript	.	.	ENSG00000180881	16471	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.977)	.	deleterious(0.01)	0,1,1	CAYP2_HUMAN	CAPS2	HGNC	F8VZC3_HUMAN	.	UPI000006D783	SNV	CAPS2,missense_variant,p.Arg508Cys,ENST00000409445,;CAPS2,missense_variant,p.Arg426Cys,ENST00000409799,;CAPS2,missense_variant,p.Arg276Cys,ENST00000393284,;CAPS2,missense_variant,p.Arg98Cys,ENST00000442339,;RP11-560G2.1,intron_variant,,ENST00000549953,;CAPS2,non_coding_transcript_exon_variant,,ENST00000409004,;CAPS2,3_prime_UTR_variant,,ENST00000336815,;CAPS2,3_prime_UTR_variant,,ENST00000328705,;	1719	49	75	SUCCESS
PPFIA2	8499	.	GRCh37	12	81671194	81671195	+	splice_acceptor_variant	Splice_Site	INS	-	-	T	rs762977214	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	21	0	ENST00000549396.1:c.3213-2dup		p.X1071_splice	ENST00000549396	NM_003625.3	1071		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55857.1	.	INDELOCATOR|VARSCANI	.	TTGTTCTTTTT	NONE	.	.	.	.	.	ENSP00000450337	.	.	.	.	.	.	.	.	.	.	rs762977214	.	PASS	ENST00000549396	Transcript	.	.	ENSG00000139220	9246	.	.	HIGH	27/32	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPA2_HUMAN	PPFIA2	HGNC	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN	.	UPI0000168655	insertion	PPFIA2,splice_acceptor_variant,,ENST00000407050,;PPFIA2,splice_acceptor_variant,,ENST00000541570,;PPFIA2,splice_acceptor_variant,,ENST00000443686,;PPFIA2,splice_acceptor_variant,,ENST00000549325,;PPFIA2,splice_acceptor_variant,,ENST00000541017,;PPFIA2,splice_acceptor_variant,,ENST00000550584,;PPFIA2,splice_acceptor_variant,,ENST00000552948,;PPFIA2,splice_acceptor_variant,,ENST00000550359,;PPFIA2,splice_acceptor_variant,,ENST00000549396,;PPFIA2,splice_acceptor_variant,,ENST00000548586,;PPFIA2,splice_acceptor_variant,,ENST00000550018,;PPFIA2,frameshift_variant,p.Arg1059LysfsTer17,ENST00000333447,;PPFIA2,downstream_gene_variant,,ENST00000551147,;RP11-121G22.3,intron_variant,,ENST00000550138,;RP11-121G22.3,intron_variant,,ENST00000549161,;RP11-121G22.3,upstream_gene_variant,,ENST00000552534,;RP11-121G22.3,upstream_gene_variant,,ENST00000553197,;RP11-121G22.3,upstream_gene_variant,,ENST00000551699,;RP11-121G22.3,upstream_gene_variant,,ENST00000550999,;RP11-121G22.3,upstream_gene_variant,,ENST00000550938,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,splice_acceptor_variant,,ENST00000551461,;	.	21	31	SUCCESS
TMTC2	160335	.	GRCh37	12	83379718	83379718	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757783753	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	80	1	ENST00000321196.3:c.1963C>T	p.Arg655Cys	p.R655C	ENST00000321196	NM_152588.1	655	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS9025.1	1963	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGCGTTTA	NONE	byFrequency	.	PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452	.	.	ENSP00000322300	.	8/12	.	.	.	.	.	.	.	.	rs757783753	8/12	PASS	ENST00000321196	Transcript	.	.	ENSG00000179104	25440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	TMTC2_HUMAN	TMTC2	HGNC	.	.	UPI0000073F0F	SNV	TMTC2,missense_variant,p.Arg655Cys,ENST00000321196,;TMTC2,missense_variant,p.Arg649Cys,ENST00000549919,;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;	2670	81	78	SUCCESS
PHC1	1911	.	GRCh37	12	9087824	9087824	+	synonymous_variant	Silent	SNP	C	C	T	rs754172941	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	50	0	ENST00000543824.1:c.2358C>T	p.Ser786=	p.S786=	ENST00000543824		786	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8597.1	2358	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCCCATC	NONE	.	.	hmmpanther:PTHR12247:SF21,hmmpanther:PTHR12247	.	.	ENSP00000440674	.	12/16	.	.	.	.	.	.	.	.	rs754172941	12/16	PASS	ENST00000543824	Transcript	.	.	ENSG00000111752	3182	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHC1_HUMAN	PHC1	HGNC	F5H6F5_HUMAN	.	UPI000013CD12	SNV	PHC1,synonymous_variant,p.%3D,ENST00000543824,;PHC1,synonymous_variant,p.%3D,ENST00000536844,;PHC1,synonymous_variant,p.%3D,ENST00000433083,;PHC1,synonymous_variant,p.%3D,ENST00000544916,;PHC1,intron_variant,,ENST00000542346,;PHC1,downstream_gene_variant,,ENST00000539063,;PHC1,downstream_gene_variant,,ENST00000537610,;PHC1,downstream_gene_variant,,ENST00000433847,;PHC1,downstream_gene_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,non_coding_transcript_exon_variant,,ENST00000540809,;PHC1,intron_variant,,ENST00000535510,;	2690	50	44	SUCCESS
PLXNC1	10154	.	GRCh37	12	94543433	94543433	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	82	0	ENST00000258526.4:c.686C>T	p.Ala229Val	p.A229V	ENST00000258526	NM_005761.2	229	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS9049.1	686	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGCGGGCA	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000258526	.	1/31	.	.	.	.	.	.	.	.	.	1/31	PASS	ENST00000258526	Transcript	.	.	ENSG00000136040	9106	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.17)	.	PLXC1_HUMAN	PLXNC1	HGNC	F8VUW4_HUMAN,F5H3A2_HUMAN	.	UPI0000038AF4	SNV	PLXNC1,missense_variant,p.Ala229Val,ENST00000258526,;PLXNC1,upstream_gene_variant,,ENST00000546733,;	935	82	97	SUCCESS
VEZT	55591	.	GRCh37	12	95693908	95693908	+	intron_variant	Intron	DEL	T	T	-	rs764758294	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	50	0	ENST00000436874.1:c.1832-26del		p.*611*	ENST00000436874	NM_017599.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44954.1	.	INDELOCATOR|VARSCANI	.	TAGTTATTTTTT	NONE	byFrequency	.	.	.	.	ENSP00000410083	.	.	.	.	.	.	.	.	.	.	rs764758294	.	PASS	ENST00000436874	Transcript	.	.	ENSG00000028203	18258	7	.	MODIFIER	11/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VEZA_HUMAN	VEZT	HGNC	.	.	UPI00001FB2EC	deletion	VEZT,intron_variant,,ENST00000397792,;VEZT,intron_variant,,ENST00000436874,;VEZT,intron_variant,,ENST00000261219,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,intron_variant,,ENST00000552306,;VEZT,intron_variant,,ENST00000550106,;VEZT,downstream_gene_variant,,ENST00000551695,;VEZT,downstream_gene_variant,,ENST00000546951,;VEZT,intron_variant,,ENST00000551994,;VEZT,intron_variant,,ENST00000547997,;VEZT,intron_variant,,ENST00000552660,;VEZT,intron_variant,,ENST00000548838,;VEZT,downstream_gene_variant,,ENST00000549192,;	.	50	60	SUCCESS
USP44	84101	.	GRCh37	12	95927482	95927483	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	90	34	89	0	ENST00000258499.3:c.550dup	p.Ile184AsnfsTer19	p.I184Nfs*19	ENST00000258499	NM_032147.3	184	ata/aAta	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS9053.1	550-551	INDELOCATOR*|VARSCANI*|PINDEL	.	CTACTATTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF401	.	.	ENSP00000258499	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000258499	Transcript	.	.	ENSG00000136014	20064	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP44_HUMAN	USP44	HGNC	F8VVD6_HUMAN,F8VRW0_HUMAN	.	UPI000013CFDB	insertion	USP44,frameshift_variant,p.Ile184AsnfsTer19,ENST00000537435,;USP44,frameshift_variant,p.Ile184AsnfsTer19,ENST00000393091,;USP44,frameshift_variant,p.Ile184AsnfsTer19,ENST00000258499,;USP44,frameshift_variant,p.Ile184AsnfsTer19,ENST00000552440,;USP44,downstream_gene_variant,,ENST00000551837,;USP44,downstream_gene_variant,,ENST00000549639,;USP44,upstream_gene_variant,,ENST00000552237,;	839-840	89	124	SUCCESS
ANKRD10	55608	.	GRCh37	13	111567411	111567411	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs545481919	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	9	0	ENST00000267339.2:c.-130C>T		p.*44*	ENST00000267339	NM_017664.2			0	.	A:0.0083	.	A:0.0014	.	A	.	protein_coding	YES	CCDS9520.1	.	SOMATICSNIPER|MUTECT|MUSE	.	GCGGAGCGCGC	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000267339	A:0.008	1/6	.	.	.	.	.	.	.	.	rs545481919	1/6	PASS	ENST00000267339	Transcript	.	A:0.0040	ENSG00000088448	20265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	ANR10_HUMAN	ANKRD10	HGNC	Q9NXQ9_HUMAN,Q9H6D6_HUMAN	.	UPI000013D744	SNV	ANKRD10,5_prime_UTR_variant,,ENST00000375758,;ANKRD10,5_prime_UTR_variant,,ENST00000267339,;ANKRD10,upstream_gene_variant,,ENST00000310847,;ANKRD10,upstream_gene_variant,,ENST00000494859,;ANKRD10,upstream_gene_variant,,ENST00000460846,;ANKRD10,upstream_gene_variant,,ENST00000489973,;ANKRD10,upstream_gene_variant,,ENST00000465753,;	6	9	13	SUCCESS
TUBGCP3	10426	.	GRCh37	13	113212590	113212590	+	synonymous_variant	Silent	SNP	G	G	A	rs541731896	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	15	98	0	ENST00000261965.3:c.468C>T	p.Ser156=	p.S156=	ENST00000261965	NM_006322.4	156	agC/agT	0	.	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS9525.1	468	RADIA|MUTECT|MUSE|VARSCANS	.	CCCACGCTGCC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19302:SF14,hmmpanther:PTHR19302	A:0.004	.	ENSP00000261965	A:0	5/22	.	.	.	.	.	.	.	.	rs541731896	5/22	PASS	ENST00000261965	Transcript	.	A:0.0008	ENSG00000126216	18598	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	GCP3_HUMAN	TUBGCP3	HGNC	.	.	UPI000000DB88	SNV	TUBGCP3,synonymous_variant,p.%3D,ENST00000261965,;TUBGCP3,synonymous_variant,p.%3D,ENST00000375669,;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000483532,;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000464139,;	655	98	95	SUCCESS
TPTE2	93492	.	GRCh37	13	20004677	20004677	+	synonymous_variant	Silent	SNP	A	A	G	rs1290752711	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	67	246	0	ENST00000400230.2:c.1233T>C	p.Cys411=	p.C411=	ENST00000400230		411	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS45014.1	1233	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCACATAC	NONE	.	.	PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,Superfamily_domains:SSF49562	.	.	ENSP00000383089	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000400230	Transcript	.	.	ENSG00000132958	17299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPTE2_HUMAN	TPTE2	HGNC	.	.	UPI000040738D	SNV	TPTE2,synonymous_variant,p.%3D,ENST00000382977,;TPTE2,synonymous_variant,p.%3D,ENST00000255310,;TPTE2,synonymous_variant,p.%3D,ENST00000457266,;TPTE2,synonymous_variant,p.%3D,ENST00000382975,;TPTE2,synonymous_variant,p.%3D,ENST00000382978,;TPTE2,synonymous_variant,p.%3D,ENST00000390680,;TPTE2,synonymous_variant,p.%3D,ENST00000400103,;TPTE2,synonymous_variant,p.%3D,ENST00000400230,;TPTE2,synonymous_variant,p.%3D,ENST00000462409,;	1278	246	220	SUCCESS
CENPJ	55835	.	GRCh37	13	25480425	25480425	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777755478	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	91	0	ENST00000381884.4:c.1751C>T	p.Ala584Val	p.A584V	ENST00000381884	NM_018451.4	584	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS9310.1	1751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCTTGT	NONE	.	.	hmmpanther:PTHR10331:SF19,hmmpanther:PTHR10331	.	.	ENSP00000371308	.	7/17	.	.	.	.	.	.	.	.	rs777755478	7/17	PASS	ENST00000381884	Transcript	.	.	ENSG00000151849	17272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.695)	.	deleterious(0.02)	.	CENPJ_HUMAN	CENPJ	HGNC	B3KVU9_HUMAN	.	UPI000013DC8A	SNV	CENPJ,missense_variant,p.Ala584Val,ENST00000381884,;CENPJ,missense_variant,p.Ala584Val,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000418179,;	1937	91	82	SUCCESS
DCLK1	9201	.	GRCh37	13	36700191	36700191	+	synonymous_variant	Silent	SNP	G	G	A	rs373323934	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	44	0	ENST00000360631.3:c.84C>T	p.Asn28=	p.N28=	ENST00000360631		28	aaC/aaT	0	A:0	.	.	.	.	A	N	protein_coding	YES	CCDS9354.1	84	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGTTCAC	SITE|p.N28N|c.84C>T|4,SITE|p.N28N|c.84C>T|4	byCluster	.	hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347	.	A:0.0001	ENSP00000255448	.	2/18	.	.	.	.	.	.	.	.	rs373323934,COSM432356,COSM432355,COSM3772814	2/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,synonymous_variant,p.%3D,ENST00000360631,;DCLK1,synonymous_variant,p.%3D,ENST00000255448,;DCLK1,synonymous_variant,p.%3D,ENST00000379892,;	296	44	60	SUCCESS
SOHLH2	54937	.	GRCh37	13	36765969	36765969	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	26	186	0	ENST00000379881.3:c.493G>A	p.Glu165Lys	p.E165K	ENST00000379881	NM_017826.2	165	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS55896.1	724	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTCGCTGT	NONE	.	.	hmmpanther:PTHR16223:SF16,hmmpanther:PTHR16223	.	.	ENSP00000451542	.	10/16	.	.	.	.	.	.	.	.	.	10/16	PASS	ENST00000554962	Transcript	.	.	ENSG00000120669	26026	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.735)	.	tolerated(0.05)	.	SOLH2_HUMAN	SOHLH2	HGNC	.	.	UPI00017A803A	SNV	SOHLH2,missense_variant,p.Glu165Lys,ENST00000379881,;CCDC169-SOHLH2,missense_variant,p.Glu242Lys,ENST00000511166,;SOHLH2,missense_variant,p.Glu242Lys,ENST00000554962,;SOHLH2,missense_variant,p.Glu165Lys,ENST00000317764,;	1026	186	162	SUCCESS
MED4	29079	.	GRCh37	13	48669113	48669113	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	18	0	ENST00000258648.2:c.102T>C	p.Leu34=	p.L34=	ENST00000258648	NM_014166.3	34	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS9408.1	102	MUTECT|MUSE	.	TCCTCAAGCGC	NONE	.	.	hmmpanther:PTHR13208,hmmpanther:PTHR13208:SF2	.	.	ENSP00000258648	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000258648	Transcript	.	.	ENSG00000136146	17903	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MED4_HUMAN	MED4	HGNC	.	.	UPI0000129871	SNV	MED4,synonymous_variant,p.%3D,ENST00000258648,;MED4,5_prime_UTR_variant,,ENST00000417167,;MED4,intron_variant,,ENST00000378586,;	128	18	17	SUCCESS
TRIM13	10206	.	GRCh37	13	50586446	50586446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	135	0	ENST00000378182.3:c.370A>G	p.Thr124Ala	p.T124A	ENST00000378182	NM_213590.1	124	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS41888.1	379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACACCAAA	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF252,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:1freA00,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000348299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.42)	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,missense_variant,p.Thr124Ala,ENST00000378183,;TRIM13,missense_variant,p.Thr124Ala,ENST00000420995,;TRIM13,missense_variant,p.Thr127Ala,ENST00000356017,;TRIM13,missense_variant,p.Thr124Ala,ENST00000378182,;TRIM13,missense_variant,p.Thr124Ala,ENST00000457662,;TRIM13,missense_variant,p.Thr124Ala,ENST00000442421,;TRIM13,missense_variant,p.Thr127Ala,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	767	135	108	SUCCESS
THSD1	55901	.	GRCh37	13	52952234	52952234	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	63	0	ENST00000258613.4:c.1871T>C	p.Leu624Pro	p.L624P	ENST00000258613	NM_018676.3	624	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9432.1	1871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATCAGAGTC	NONE	.	.	hmmpanther:PTHR16311	.	.	ENSP00000258613	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000258613	Transcript	.	.	ENSG00000136114	17754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.01)	.	THSD1_HUMAN	THSD1	HGNC	F5H419_HUMAN	.	UPI000007376D	SNV	THSD1,missense_variant,p.Leu571Pro,ENST00000349258,;THSD1,missense_variant,p.Leu245Pro,ENST00000544466,;THSD1,missense_variant,p.Leu624Pro,ENST00000258613,;	2050	63	40	SUCCESS
KLF12	11278	.	GRCh37	13	74289619	74289619	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750839981	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	13	124	0	ENST00000377669.2:c.913C>T	p.Arg305Trp	p.R305W	ENST00000377669	NM_007249.4	305	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS9449.1	913	RADIA|MUTECT|MUSE|VARSCANS	.	AGACCGTCTCT	NONE	.	.	hmmpanther:PTHR23223:SF136,hmmpanther:PTHR23223	.	.	ENSP00000366897	.	6/7	.	.	.	.	.	.	.	.	rs750839981	6/7	PASS	ENST00000377669	Transcript	.	.	ENSG00000118922	6346	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.895)	.	tolerated(0.05)	.	KLF12_HUMAN	KLF12	HGNC	.	.	UPI000013D144	SNV	KLF12,missense_variant,p.Arg305Trp,ENST00000377666,;KLF12,missense_variant,p.Arg305Trp,ENST00000377669,;	940	124	126	SUCCESS
DLK1	8788	.	GRCh37	14	101200731	101200731	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	106	0	ENST00000341267.4:c.650G>A	p.Cys217Tyr	p.C217Y	ENST00000341267	NM_003836.5	217	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS9963.1	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTGCCAGA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24052:SF10,hmmpanther:PTHR24052,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	.	.	ENSP00000340292	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341267	Transcript	1	.	ENSG00000185559	2907	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DLK1_HUMAN	DLK1	HGNC	G3XAH5_HUMAN	.	UPI00001AFE16	SNV	DLK1,missense_variant,p.Cys217Tyr,ENST00000331224,;DLK1,missense_variant,p.Cys217Tyr,ENST00000341267,;DLK1,downstream_gene_variant,,ENST00000392848,;RP11-566J3.4,upstream_gene_variant,,ENST00000608876,;	892	106	90	SUCCESS
TRAF3	7187	.	GRCh37	14	103371803	103371803	+	synonymous_variant	Silent	SNP	C	C	T	rs752675828	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	141	0	ENST00000392745.2:c.1389C>T	p.Asp463=	p.D463=	ENST00000392745		463	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS9975.1	1389	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGGACGGGAT	NONE	byFrequency	.	PROSITE_profiles:PS50144,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF72,Pfam_domain:PF00917,Gene3D:2.60.210.10,PIRSF_domain:PIRSF015614,SMART_domains:SM00061,Superfamily_domains:SSF49599	.	.	ENSP00000454207	.	11/11	.	.	.	.	.	.	.	.	rs752675828,COSM200021	11/11	PASS	ENST00000560371	Transcript	1	.	ENSG00000131323	12033	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	TRAF3_HUMAN	TRAF3	HGNC	H0YMI8_HUMAN	.	UPI000000CBF9	SNV	TRAF3,synonymous_variant,p.%3D,ENST00000392745,;TRAF3,synonymous_variant,p.%3D,ENST00000560371,;TRAF3,synonymous_variant,p.%3D,ENST00000351691,;TRAF3,synonymous_variant,p.%3D,ENST00000539721,;TRAF3,synonymous_variant,p.%3D,ENST00000347662,;TRAF3,downstream_gene_variant,,ENST00000559734,;	1606	141	85	SUCCESS
APOPT1	0	.	GRCh37	14	104040491	104040491	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	44	0	ENST00000409074.2:c.408C>T	p.Gly136=	p.G136=	ENST00000409074	NM_032374.3	136	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	.	408	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCCTGAG	NONE	.	.	Pfam_domain:PF10231	.	.	ENSP00000439065	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000472726	Transcript	.	.	ENSG00000256500	.	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-73M18.2	Clone_based_vega_gene	Q7Z5D5_HUMAN,G3V2P7_HUMAN,E7EVH7_HUMAN	.	UPI0001AE69A1	SNV	RP11-73M18.2,synonymous_variant,p.%3D,ENST00000472726,;APOPT1,synonymous_variant,p.%3D,ENST00000409074,;APOPT1,synonymous_variant,p.%3D,ENST00000247618,;APOPT1,synonymous_variant,p.%3D,ENST00000495778,;APOPT1,synonymous_variant,p.%3D,ENST00000556253,;KLC1,intron_variant,,ENST00000557172,;APOPT1,intron_variant,,ENST00000440963,;AL139300.1,downstream_gene_variant,,ENST00000583855,;APOPT1,non_coding_transcript_exon_variant,,ENST00000474271,;APOPT1,non_coding_transcript_exon_variant,,ENST00000554876,;APOPT1,non_coding_transcript_exon_variant,,ENST00000477116,;APOPT1,non_coding_transcript_exon_variant,,ENST00000497901,;APOPT1,intron_variant,,ENST00000473127,;APOPT1,intron_variant,,ENST00000476323,;APOPT1,intron_variant,,ENST00000492189,;APOPT1,3_prime_UTR_variant,,ENST00000489117,;APOPT1,non_coding_transcript_exon_variant,,ENST00000554625,;APOPT1,intron_variant,,ENST00000555660,;APOPT1,intron_variant,,ENST00000458117,;	409	44	29	SUCCESS
TTC5	91875	.	GRCh37	14	20774104	20774104	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	78	1	ENST00000258821.3:c.-8G>A		p.*3*	ENST00000258821	NM_138376.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9546.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCGGCCACTC	NONE	.	.	.	.	.	ENSP00000258821	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000258821	Transcript	.	.	ENSG00000136319	19274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TTC5_HUMAN	TTC5	HGNC	.	.	UPI000013D00B	SNV	TTC5,5_prime_UTR_variant,,ENST00000553828,;TTC5,5_prime_UTR_variant,,ENST00000258821,;TTC5,upstream_gene_variant,,ENST00000423949,;CTD-2292M16.7,non_coding_transcript_exon_variant,,ENST00000553419,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;TTC5,non_coding_transcript_exon_variant,,ENST00000557379,;TTC5,upstream_gene_variant,,ENST00000383029,;	50	79	63	SUCCESS
RPGRIP1	57096	.	GRCh37	14	21769124	21769124	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	106	0	ENST00000400017.2:c.219-1G>T		p.X73_splice	ENST00000400017	NM_020366.3	73		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45080.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACAGGCTGA	NONE	.	.	.	.	.	ENSP00000382895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400017	Transcript	.	.	ENSG00000092200	13436	.	.	HIGH	2/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPGR1_HUMAN	RPGRIP1	HGNC	.	.	UPI0000071B81	SNV	RPGRIP1,splice_acceptor_variant,,ENST00000400017,;RPGRIP1,splice_acceptor_variant,,ENST00000556336,;RPGRIP1,splice_acceptor_variant,,ENST00000557771,;RPGRIP1,splice_acceptor_variant,,ENST00000206660,;RPGRIP1,upstream_gene_variant,,ENST00000554750,;	.	107	70	SUCCESS
NYNRIN	57523	.	GRCh37	14	24877347	24877347	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	37	0	ENST00000382554.3:c.471T>C	p.Ala157=	p.A157=	ENST00000382554	NM_025081.2	157	gcT/gcC	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS45090.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGAGGT	NONE	.	.	hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	.	.	ENSP00000371994	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000382554	Transcript	.	.	ENSG00000205978	20165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NYNRI_HUMAN	NYNRIN	HGNC	.	.	UPI0000251E63	SNV	NYNRIN,synonymous_variant,p.%3D,ENST00000382554,;NYNRIN,upstream_gene_variant,,ENST00000554505,;	789	37	19	SUCCESS
SIX4	51804	.	GRCh37	14	61190367	61190367	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	104	0	ENST00000216513.4:c.426A>G	p.Leu142=	p.L142=	ENST00000216513	NM_017420.4	142	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9749.2	426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGTAGCAG	NONE	.	.	hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF22	.	.	ENSP00000216513	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000216513	Transcript	.	.	ENSG00000100625	10890	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX4_HUMAN	SIX4	HGNC	.	.	UPI000066D924	SNV	SIX4,synonymous_variant,p.%3D,ENST00000556952,;SIX4,synonymous_variant,p.%3D,ENST00000216513,;SIX4,upstream_gene_variant,,ENST00000554079,;	486	104	78	SUCCESS
MPP5	0	.	GRCh37	14	67768752	67768755	+	frameshift_variant	Frame_Shift_Del	DEL	GAGA	GAGA	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	GAGA	GAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	195	0	ENST00000261681.4:c.721_724del	p.Arg241PhefsTer13	p.R241Ffs*13	ENST00000261681	NM_022474.3	240	GAGAga/ga	0	.	.	.	.	.	-	ER/X	protein_coding	YES	CCDS9779.1	718-721	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGATGAGAGAGTT	NONE	.	.	hmmpanther:PTHR23122:SF32,hmmpanther:PTHR23122	.	.	ENSP00000261681	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000261681	Transcript	.	.	ENSG00000072415	18669	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPP5_HUMAN	MPP5	HGNC	G3V2H1_HUMAN	.	UPI0000046FB9	deletion	MPP5,frameshift_variant,p.Arg207PhefsTer13,ENST00000555925,;MPP5,frameshift_variant,p.Arg241PhefsTer13,ENST00000261681,;ATP6V1D,intron_variant,,ENST00000554087,;	1379-1382	195	122	SUCCESS
ELMSAN1	0	.	GRCh37	14	74205773	74205773	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs762448666	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	43	0	ENST00000286523.5:c.939del	p.Asn314ThrfsTer4	p.N314Tfs*4	ENST00000286523	NM_194278.3	313	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS9819.1	939	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGTTGGGGGG	SITE|p.N314fs*4|c.939delC|7	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089	.	.	ENSP00000286523	.	2/12	.	.	.	.	.	.	.	.	rs759620057,rs762448666,COSM1371004	2/12	PASS	ENST00000286523	Transcript	.	.	ENSG00000156030	19853	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	.	.	0,0,1	EMSA1_HUMAN	ELMSAN1	HGNC	F6RU81_HUMAN,C9JYU7_HUMAN	.	UPI00001FD815	deletion	ELMSAN1,frameshift_variant,p.Asn314ThrfsTer4,ENST00000435371,;ELMSAN1,frameshift_variant,p.Asn314ThrfsTer4,ENST00000423556,;ELMSAN1,frameshift_variant,p.Asn314ThrfsTer4,ENST00000286523,;ELMSAN1,frameshift_variant,p.Asn314ThrfsTer4,ENST00000394071,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,frameshift_variant,p.Asn136ThrfsTer4,ENST00000451078,;	1722	43	54	SUCCESS
SAMD15	161394	.	GRCh37	14	77845085	77845085	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761355835	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	39	171	0	ENST00000216471.4:c.1324C>T	p.Arg442Cys	p.R442C	ENST00000216471	NM_001010860.1	442	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS32126.1	1324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCGTGAG	NONE	byFrequency	.	hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF55	.	.	ENSP00000216471	.	1/3	.	.	.	.	.	.	.	.	rs761355835	1/3	PASS	ENST00000216471	Transcript	.	.	ENSG00000100583	18631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	tolerated(0.18)	.	SAM15_HUMAN	SAMD15	HGNC	G3V2Z3_HUMAN	.	UPI0000072F0E	SNV	SAMD15,missense_variant,p.Arg442Cys,ENST00000216471,;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,;	1610	171	138	SUCCESS
PTPN21	11099	.	GRCh37	14	88970793	88970793	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	88	0	ENST00000328736.3:c.563T>C	p.Val188Ala	p.V188A	ENST00000328736		188	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS9884.1	563	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCACTTTT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR19134:SF78,hmmpanther:PTHR19134,Pfam_domain:PF00373,Gene3D:1.20.80.10,PIRSF_domain:PIRSF000934,SMART_domains:SM00295,Superfamily_domains:SSF47031	.	.	ENSP00000452414	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000556564	Transcript	.	.	ENSG00000070778	9651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.723)	.	tolerated(0.07)	.	PTN21_HUMAN	PTPN21	HGNC	Q8WX29_HUMAN,G3V3S6_HUMAN	.	UPI000013D15F	SNV	PTPN21,missense_variant,p.Val188Ala,ENST00000555243,;PTPN21,missense_variant,p.Val188Ala,ENST00000556564,;PTPN21,missense_variant,p.Val188Ala,ENST00000328736,;RP11-507K2.2,intron_variant,,ENST00000555444,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554628,;PTPN21,3_prime_UTR_variant,,ENST00000536337,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,;	848	88	71	SUCCESS
CLMN	79789	.	GRCh37	14	95660226	95660226	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145504462	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	24	141	0	ENST00000298912.4:c.2800G>A	p.Ala934Thr	p.A934T	ENST00000298912	NM_024734.3	934	Gca/Aca	0	.	T:0	.	T:0	.	T	A/T	protein_coding	YES	CCDS9933.1	2800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCGTTCC	SITE|p.A934T|c.2800G>A|3	byCluster|by1000G	.	Low_complexity_(Seg):seg	T:0.001	.	ENSP00000298912	T:0	12/13	.	.	.	.	.	.	.	.	rs145504462,COSM145241	12/13	PASS	ENST00000298912	Transcript	.	T:0.0002	ENSG00000165959	19972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.564)	T:0	tolerated(0.09)	0,1	CLMN_HUMAN	CLMN	HGNC	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN	.	UPI000006DB99	SNV	CLMN,missense_variant,p.Ala934Thr,ENST00000298912,;CLMN,5_prime_UTR_variant,,ENST00000556441,;CLMN,non_coding_transcript_exon_variant,,ENST00000557215,;CLMN,non_coding_transcript_exon_variant,,ENST00000557696,;CLMN,non_coding_transcript_exon_variant,,ENST00000556416,;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;	2914	141	122	SUCCESS
CLMN	79789	.	GRCh37	14	95679562	95679562	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770612025	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	78	1	ENST00000298912.4:c.602C>T	p.Thr201Met	p.T201M	ENST00000298912	NM_024734.3	201	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS9933.1	602	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGTTTTC	NONE	byFrequency	.	PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	.	.	ENSP00000298912	.	6/13	.	.	.	.	.	.	.	.	rs770612025	6/13	PASS	ENST00000298912	Transcript	.	.	ENSG00000165959	19972	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	CLMN_HUMAN	CLMN	HGNC	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN	.	UPI000006DB99	SNV	CLMN,missense_variant,p.Thr201Met,ENST00000298912,;CLMN,incomplete_terminal_codon_variant,p.%3D,ENST00000555336,;CLMN,downstream_gene_variant,,ENST00000555615,;CLMN,upstream_gene_variant,,ENST00000556454,;	716	79	57	SUCCESS
OR4M2	390538	.	GRCh37	15	22369119	22369119	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	17	283	0	ENST00000332663.2:c.544A>T	p.Thr182Ser	p.T182S	ENST00000332663	NM_001004719.2	182	Aca/Tca	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS32172.1	544	MUTECT|MUSE|VARSCANS	.	ACATCACACAG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000329467	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332663	Transcript	.	.	ENSG00000182974	15373	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.532)	.	deleterious(0.02)	.	OR4M2_HUMAN	OR4M2	HGNC	.	.	UPI0000046191	SNV	OR4M2,missense_variant,p.Thr182Ser,ENST00000332663,;RP11-69H14.6,intron_variant,,ENST00000560969,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;	642	283	205	SUCCESS
GPR176	11245	.	GRCh37	15	40093624	40093624	+	synonymous_variant	Silent	SNP	C	C	T	rs758625482	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	67	0	ENST00000561100.1:c.1257G>A	p.Ala419=	p.A419=	ENST00000561100	NM_007223.2	419	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10051.1	1257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCGCAAA	NONE	byFrequency	.	hmmpanther:PTHR22752:SF1,hmmpanther:PTHR22752	.	.	ENSP00000453076	.	3/3	.	.	.	.	.	.	.	.	rs758625482,COSM3401694	3/3	PASS	ENST00000561100	Transcript	.	.	ENSG00000166073	32370	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GP176_HUMAN	GPR176	HGNC	H9NIL9_HUMAN	.	UPI0000041346	SNV	GPR176,synonymous_variant,p.%3D,ENST00000543580,;GPR176,synonymous_variant,p.%3D,ENST00000561100,;GPR176,synonymous_variant,p.%3D,ENST00000299092,;GPR176,downstream_gene_variant,,ENST00000558041,;RP11-37C7.1,upstream_gene_variant,,ENST00000558616,;GPR176,downstream_gene_variant,,ENST00000560729,;	2123	67	33	SUCCESS
RPAP1	26015	.	GRCh37	15	41810241	41810241	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	82	0	ENST00000304330.4:c.3935T>C	p.Val1312Ala	p.V1312A	ENST00000304330	NM_015540.2	1312	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10079.1	3935	MUTECT|MUSE	.	TATTGACATGA	NONE	.	.	hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483	.	.	ENSP00000306123	.	23/25	.	.	.	.	.	.	.	.	.	23/25	PASS	ENST00000304330	Transcript	.	.	ENSG00000103932	24567	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.16)	.	deleterious(0)	.	RPAP1_HUMAN	RPAP1	HGNC	H3BPY8_HUMAN,H3BPM3_HUMAN	.	UPI000013D465	SNV	RPAP1,missense_variant,p.Ser1060Pro,ENST00000561603,;RPAP1,missense_variant,p.Val1312Ala,ENST00000304330,;LTK,upstream_gene_variant,,ENST00000561619,;LTK,upstream_gene_variant,,ENST00000263800,;LTK,upstream_gene_variant,,ENST00000355166,;LTK,upstream_gene_variant,,ENST00000453182,;RPAP1,3_prime_UTR_variant,,ENST00000562303,;RPAP1,non_coding_transcript_exon_variant,,ENST00000565167,;LTK,upstream_gene_variant,,ENST00000563518,;RPAP1,downstream_gene_variant,,ENST00000564934,;	4052	82	74	SUCCESS
SPTBN5	51332	.	GRCh37	15	42159207	42159207	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780365905	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	19	128	0	ENST00000320955.6:c.6430G>A	p.Ala2144Thr	p.A2144T	ENST00000320955	NM_016642.3	2144	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS61599.1	6430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCGTGTC	NONE	byFrequency	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000317790	.	36/68	.	.	.	.	.	.	.	.	rs780365905	36/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,missense_variant,p.Ala2144Thr,ENST00000320955,;MIR4310,upstream_gene_variant,,ENST00000582950,;	6658	129	90	SUCCESS
SPTBN5	51332	.	GRCh37	15	42165687	42165687	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	59	0	ENST00000320955.6:c.5007+3A>G		p.X1669_splice	ENST00000320955	NM_016642.3	1669		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS61599.1	.	RADIA|MUSE|VARSCANS	.	CGTGGTACCTG	NONE	.	.	.	.	.	ENSP00000317790	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	LOW	26/67	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,splice_region_variant,,ENST00000320955,;	.	59	43	SUCCESS
ZSCAN29	146050	.	GRCh37	15	43656143	43656143	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	98	0	ENST00000396976.2:c.1660C>T	p.Arg554Cys	p.R554C	ENST00000396976	NM_152455.3	554	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS10095.2	1660	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGGGTTA	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209	.	.	ENSP00000380174	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000396976	Transcript	.	.	ENSG00000140265	26673	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.614)	.	tolerated(0.07)	.	ZSC29_HUMAN	ZSCAN29	HGNC	Q96AG1_HUMAN,H3BVH1_HUMAN	.	UPI0000DA5AF5	SNV	ZSCAN29,missense_variant,p.Arg554Cys,ENST00000396976,;ZSCAN29,3_prime_UTR_variant,,ENST00000570181,;ZSCAN29,intron_variant,,ENST00000396972,;ZSCAN29,intron_variant,,ENST00000568898,;ZSCAN29,intron_variant,,ENST00000562072,;ZSCAN29,3_prime_UTR_variant,,ENST00000566849,;	1795	98	102	SUCCESS
TRPM7	54822	.	GRCh37	15	50884267	50884267	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1300265965	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	67	0	ENST00000313478.7:c.4165A>G	p.Thr1389Ala	p.T1389A	ENST00000313478	NM_017672.4	1389	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS42035.1	4165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTAGTAGATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	.	.	ENSP00000320239	.	26/39	.	.	.	.	.	.	.	.	.	26/39	PASS	ENST00000313478	Transcript	1	.	ENSG00000092439	17994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	deleterious_low_confidence(0.03)	.	TRPM7_HUMAN	TRPM7	HGNC	.	.	UPI0000071CBA	SNV	TRPM7,missense_variant,p.Thr1389Ala,ENST00000560955,;TRPM7,missense_variant,p.Thr1389Ala,ENST00000313478,;TRPM7,downstream_gene_variant,,ENST00000560284,;	4447	67	63	SUCCESS
SPG21	51324	.	GRCh37	15	65268816	65268816	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	40	230	0	ENST00000204566.2:c.303T>C	p.Asp101=	p.D101=	ENST00000204566	NM_016630.3	101	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS10198.1	303	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTATCCAA	NONE	.	.	hmmpanther:PTHR15913:SF0,hmmpanther:PTHR15913,Gene3D:3.40.50.1820,Pfam_domain:PF12697,Superfamily_domains:SSF53474	.	.	ENSP00000204566	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000204566	Transcript	1	.	ENSG00000090487	20373	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPG21_HUMAN	SPG21	HGNC	H3BRR0_HUMAN,H0YML6_HUMAN,H0YMB7_HUMAN,H0YLW1_HUMAN,H0YLT5_HUMAN,H0YLD7_HUMAN,H0YKB0_HUMAN	.	UPI0000074012	SNV	SPG21,synonymous_variant,p.%3D,ENST00000559677,;SPG21,synonymous_variant,p.%3D,ENST00000557795,;SPG21,synonymous_variant,p.%3D,ENST00000433215,;SPG21,synonymous_variant,p.%3D,ENST00000204566,;SPG21,synonymous_variant,p.%3D,ENST00000558765,;SPG21,5_prime_UTR_variant,,ENST00000559199,;SPG21,intron_variant,,ENST00000416889,;SPG21,downstream_gene_variant,,ENST00000558943,;SPG21,downstream_gene_variant,,ENST00000560878,;SPG21,downstream_gene_variant,,ENST00000558415,;SPG21,non_coding_transcript_exon_variant,,ENST00000560564,;SPG21,synonymous_variant,p.%3D,ENST00000561078,;	599	230	198	SUCCESS
ZWILCH	55055	.	GRCh37	15	66821892	66821892	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781621042	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	66	0	ENST00000307897.5:c.1136G>A	p.Arg379His	p.R379H	ENST00000307897	NM_017975.3	379	cGt/cAt	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS10219.1	1136	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACGTGGTG	NONE	.	.	hmmpanther:PTHR15995,Pfam_domain:PF09817	.	.	ENSP00000311429	.	12/19	.	.	.	.	.	.	.	.	rs781621042	12/19	PASS	ENST00000307897	Transcript	.	.	ENSG00000174442	25468	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.58)	.	ZWILC_HUMAN	ZWILCH	HGNC	H3BSG1_HUMAN,H3BQ07_HUMAN,H3BPI7_HUMAN	.	UPI000013EC73	SNV	ZWILCH,missense_variant,p.Arg379His,ENST00000307897,;ZWILCH,missense_variant,p.Arg265His,ENST00000535141,;ZWILCH,missense_variant,p.Arg265His,ENST00000565627,;ZWILCH,missense_variant,p.Arg265His,ENST00000446801,;ZWILCH,downstream_gene_variant,,ENST00000562645,;ZWILCH,downstream_gene_variant,,ENST00000561583,;	1516	66	42	SUCCESS
UACA	55075	.	GRCh37	15	70959811	70959814	+	frameshift_variant	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs760248027	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TGTT	TGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	71	0	ENST00000322954.6:c.3209_3212del	p.Lys1070SerfsTer2	p.K1070Sfs*2	ENST00000322954	NM_018003.2	1070	aAACAg/ag	0	.	.	.	.	.	-	KQ/X	protein_coding	YES	CCDS10235.1	3209-3212	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTAACTGTTTGTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1	.	.	ENSP00000314556	.	16/19	.	.	.	.	.	.	.	.	rs760248027,COSM287434	16/19	PASS	ENST00000322954	Transcript	.	.	ENSG00000137831	15947	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	UACA_HUMAN	UACA	HGNC	.	.	UPI000006DCF3	deletion	UACA,frameshift_variant,p.Lys1057SerfsTer2,ENST00000379983,;UACA,frameshift_variant,p.Lys961SerfsTer2,ENST00000539319,;UACA,frameshift_variant,p.Lys1070SerfsTer2,ENST00000322954,;UACA,frameshift_variant,p.Lys1055SerfsTer2,ENST00000560441,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000558308,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;	3395-3398	71	43	SUCCESS
C15orf59	0	.	GRCh37	15	74043430	74043430	+	synonymous_variant	Silent	SNP	G	G	A	rs146110202	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	42	0	ENST00000569673.1:c.42C>T	p.Asp14=	p.D14=	ENST00000569673		14	gaC/gaT	0	C:0	.	.	.	.	A	D	protein_coding	YES	CCDS32289.1	42	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCGTCACT	NONE	byCluster	.	hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF3	.	C:0.0003	ENSP00000457205	.	2/3	.	.	.	.	.	.	.	.	rs146110202	2/3	PASS	ENST00000569673	Transcript	.	.	ENSG00000205363	33753	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO059_HUMAN	C15orf59	HGNC	H0YKG6_HUMAN	.	UPI00001D778D	SNV	C15orf59,synonymous_variant,p.%3D,ENST00000379822,;C15orf59,synonymous_variant,p.%3D,ENST00000569673,;C15orf59,5_prime_UTR_variant,,ENST00000559817,;	1247	42	37	SUCCESS
AP3B2	8120	.	GRCh37	15	83357549	83357549	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	98	0	ENST00000261722.3:c.299A>G	p.Tyr100Cys	p.Y100C	ENST00000261722	NM_004644.4	100	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS45331.1	299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCGTAGCGT	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371	.	.	ENSP00000261722	.	4/26	.	.	.	.	.	.	.	.	.	4/26	PASS	ENST00000261722	Transcript	.	.	ENSG00000103723	567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	AP3B2_HUMAN	AP3B2	HGNC	F5GWU4_HUMAN	.	UPI0000125030	SNV	AP3B2,missense_variant,p.Tyr100Cys,ENST00000542200,;AP3B2,missense_variant,p.Tyr56Cys,ENST00000541693,;AP3B2,missense_variant,p.Tyr100Cys,ENST00000535359,;AP3B2,missense_variant,p.Tyr100Cys,ENST00000261722,;AP3B2,intron_variant,,ENST00000535348,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000561455,;AP3B2,downstream_gene_variant,,ENST00000560529,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535385,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535513,;RP11-752G15.4,downstream_gene_variant,,ENST00000560043,;	507	98	73	SUCCESS
KIF7	374654	.	GRCh37	15	90192526	90192526	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	7	74	0	ENST00000394412.3:c.602C>T	p.Ala201Val	p.A201V	ENST00000394412	NM_198525.2	201	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS32325.2	602	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCGTTG	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF342,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	.	.	ENSP00000377934	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000394412	Transcript	1	.	ENSG00000166813	30497	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.118)	.	deleterious(0)	.	KIF7_HUMAN	KIF7	HGNC	B7ZKY4_HUMAN	.	UPI00015F81C7	SNV	KIF7,missense_variant,p.Ala201Val,ENST00000394412,;KIF7,3_prime_UTR_variant,,ENST00000445906,;	679	74	56	SUCCESS
GDPGP1	390637	.	GRCh37	15	90784264	90784264	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	76	0	ENST00000329600.6:c.124C>T	p.Gln42Ter	p.Q42*	ENST00000329600		42	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS32327.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTCAGTGG	NONE	.	.	hmmpanther:PTHR20884	.	.	ENSP00000452793	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000558017	Transcript	.	.	ENSG00000183208	34360	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDPP1_HUMAN	GDPGP1	HGNC	H0YN11_HUMAN,H0YL31_HUMAN	.	UPI00002378F3	SNV	GDPGP1,stop_gained,p.Gln42Ter,ENST00000329600,;GDPGP1,stop_gained,p.Gln42Ter,ENST00000561433,;GDPGP1,stop_gained,p.Gln42Ter,ENST00000558017,;GDPGP1,stop_gained,p.Gln42Ter,ENST00000559204,;GDPGP1,downstream_gene_variant,,ENST00000558291,;RP11-697E2.4,upstream_gene_variant,,ENST00000565730,;	544	76	51	SUCCESS
FURIN	5045	.	GRCh37	15	91424700	91424700	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	70	0	ENST00000268171.3:c.1977C>T	p.Cys659=	p.C659=	ENST00000268171	NM_002569.2	659	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS10364.1	1977	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGCCTCAG	NONE	.	.	Superfamily_domains:SSF57184,SMART_domains:SM00261,Gene3D:2.10.220.10,hmmpanther:PTHR10795:SF325,hmmpanther:PTHR10795	.	.	ENSP00000268171	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000268171	Transcript	.	.	ENSG00000140564	8568	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FURIN_HUMAN	FURIN	HGNC	H0YNB5_HUMAN,H0YKB2_HUMAN	.	UPI0000000CC7	SNV	FURIN,synonymous_variant,p.%3D,ENST00000268171,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000559355,;FES,upstream_gene_variant,,ENST00000450438,;FES,upstream_gene_variant,,ENST00000394300,;FES,upstream_gene_variant,,ENST00000414248,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000328850,;FES,upstream_gene_variant,,ENST00000444422,;FURIN,downstream_gene_variant,,ENST00000560018,;FURIN,downstream_gene_variant,,ENST00000558794,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000470152,;FES,upstream_gene_variant,,ENST00000481665,;	2256	70	64	SUCCESS
MCTP2	55784	.	GRCh37	15	94943190	94943190	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760560583	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	17	118	0	ENST00000357742.4:c.1931G>A	p.Arg644His	p.R644H	ENST00000357742	NM_018349.3	644	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS32338.1	1931	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCGCTTTG	NONE	byFrequency	.	hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5	.	.	ENSP00000350377	.	15/22	.	.	.	.	.	.	.	.	rs760560583	15/22	PASS	ENST00000357742	Transcript	1	.	ENSG00000140563	25636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.485)	.	deleterious(0)	.	MCTP2_HUMAN	MCTP2	HGNC	Q9NPN6_HUMAN	.	UPI0000D613A2	SNV	MCTP2,missense_variant,p.Arg232His,ENST00000557742,;MCTP2,missense_variant,p.Arg232His,ENST00000331706,;MCTP2,missense_variant,p.Arg644His,ENST00000357742,;MCTP2,missense_variant,p.Arg644His,ENST00000451018,;MCTP2,3_prime_UTR_variant,,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000557505,;	1931	118	100	SUCCESS
TMC5	79838	.	GRCh37	16	19471655	19471655	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	114	413	0	ENST00000396229.2:c.1147A>G	p.Arg383Gly	p.R383G	ENST00000396229	NM_001105248.1	383	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS45431.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTAGGTAT	NONE	.	.	hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF5	.	.	ENSP00000379531	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000396229	Transcript	.	.	ENSG00000103534	22999	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0)	.	TMC5_HUMAN	TMC5	HGNC	.	.	UPI00001FEF87	SNV	TMC5,missense_variant,p.Arg137Gly,ENST00000219821,;TMC5,missense_variant,p.Arg383Gly,ENST00000381414,;TMC5,missense_variant,p.Arg24Gly,ENST00000561503,;TMC5,missense_variant,p.Arg383Gly,ENST00000541464,;TMC5,missense_variant,p.Arg383Gly,ENST00000396229,;TMC5,missense_variant,p.Ser45Gly,ENST00000564959,;TMC5,missense_variant,p.Arg383Gly,ENST00000542583,;TMC5,splice_region_variant,,ENST00000567478,;	1896	413	302	SUCCESS
RPS2	6187	.	GRCh37	16	2012581	2012581	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	102	0	ENST00000343262.4:c.626T>C	p.Val209Ala	p.V209A	ENST00000343262	NM_002952.3	209	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS10452.1	626	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGCACAGGT	NONE	.	.	Superfamily_domains:SSF54211,Gene3D:3.30.230.10,Pfam_domain:PF03719,TIGRFAM_domain:TIGR01020,hmmpanther:PTHR13718	.	.	ENSP00000341885	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000343262	Transcript	.	.	ENSG00000140988	10404	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.459)	.	tolerated(0.13)	.	RS2_HUMAN	RPS2	HGNC	Q9BSW5_HUMAN,Q8NI62_HUMAN,O60249_HUMAN,H3BNG3_HUMAN,E9PMM9_HUMAN	.	UPI000000128D	SNV	RPS2,missense_variant,p.Val209Ala,ENST00000527302,;RPS2,missense_variant,p.Val179Ala,ENST00000529806,;RPS2,missense_variant,p.Val111Ala,ENST00000533186,;RPS2,missense_variant,p.Val151Ala,ENST00000526522,;RPS2,missense_variant,p.Val209Ala,ENST00000343262,;RPS2,missense_variant,p.Val120Ala,ENST00000526586,;RPS2,intron_variant,,ENST00000530225,;RPL3L,upstream_gene_variant,,ENST00000565426,;NDUFB10,downstream_gene_variant,,ENST00000268668,;RNF151,upstream_gene_variant,,ENST00000569210,;NDUFB10,downstream_gene_variant,,ENST00000570172,;RNF151,upstream_gene_variant,,ENST00000321392,;NDUFB10,downstream_gene_variant,,ENST00000543683,;NDUFB10,downstream_gene_variant,,ENST00000569148,;RPS2,downstream_gene_variant,,ENST00000563194,;RNF151,upstream_gene_variant,,ENST00000569714,;SNHG9,upstream_gene_variant,,ENST00000459373,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNHG9,upstream_gene_variant,,ENST00000564014,;SNORA10,upstream_gene_variant,,ENST00000384084,;SNORA64,downstream_gene_variant,,ENST00000384674,;RPL3L,upstream_gene_variant,,ENST00000566484,;RPS2,3_prime_UTR_variant,,ENST00000532746,;RPS2,non_coding_transcript_exon_variant,,ENST00000527109,;RPS2,non_coding_transcript_exon_variant,,ENST00000533872,;RPS2,non_coding_transcript_exon_variant,,ENST00000531065,;RPS2,non_coding_transcript_exon_variant,,ENST00000534461,;RPS2,non_coding_transcript_exon_variant,,ENST00000527871,;RPS2,non_coding_transcript_exon_variant,,ENST00000533161,;NDUFB10,downstream_gene_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000526908,;RPS2,downstream_gene_variant,,ENST00000527826,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	683	102	65	SUCCESS
POLR3E	55718	.	GRCh37	16	22343411	22343411	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	63	0	ENST00000299853.5:c.1979del	p.Asn660IlefsTer8	p.N660Ifs*8	ENST00000299853	NM_001258033.1	659	Aaa/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS10605.1	1975	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTCCAAAAAT	NONE	.	.	hmmpanther:PTHR12069	.	.	ENSP00000299853	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000299853	Transcript	.	.	ENSG00000058600	30347	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPC5_HUMAN	POLR3E	HGNC	H3BSI5_HUMAN,H3BRY1_HUMAN,H3BNJ0_HUMAN	.	UPI000006D8F8	deletion	POLR3E,frameshift_variant,p.Asn624IlefsTer8,ENST00000418581,;POLR3E,frameshift_variant,p.Asn660IlefsTer8,ENST00000299853,;POLR3E,intron_variant,,ENST00000564209,;POLR3E,intron_variant,,ENST00000359210,;POLR3E,3_prime_UTR_variant,,ENST00000564750,;POLR3E,non_coding_transcript_exon_variant,,ENST00000563282,;POLR3E,non_coding_transcript_exon_variant,,ENST00000565117,;POLR3E,downstream_gene_variant,,ENST00000564061,;	2142	63	62	SUCCESS
LCMT1	51451	.	GRCh37	16	25176033	25176033	+	synonymous_variant	Silent	SNP	C	C	T	rs147289367	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	104	0	ENST00000399069.3:c.684C>T	p.Tyr228=	p.Y228=	ENST00000399069	NM_016309.2	228	taC/taT	0	T:0.0003	T:0	.	T:0	.	T	Y	protein_coding	YES	CCDS45445.1	684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTACGAACA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13600:SF6,hmmpanther:PTHR13600,Gene3D:3.40.50.150,PIRSF_domain:PIRSF016305,Superfamily_domains:SSF53335	T:0.001	T:0	ENSP00000382021	T:0.001	7/11	.	.	.	.	.	.	.	.	rs147289367	7/11	PASS	ENST00000399069	Transcript	.	T:0.0004	ENSG00000205629	17557	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LCMT1_HUMAN	LCMT1	HGNC	I3L2Q8_HUMAN	.	UPI0000000C29	SNV	LCMT1,synonymous_variant,p.%3D,ENST00000572761,;LCMT1,synonymous_variant,p.%3D,ENST00000575396,;LCMT1,synonymous_variant,p.%3D,ENST00000399069,;LCMT1,synonymous_variant,p.%3D,ENST00000380966,;LCMT1,non_coding_transcript_exon_variant,,ENST00000572869,;LCMT1,downstream_gene_variant,,ENST00000573435,;LCMT1,synonymous_variant,p.%3D,ENST00000576625,;LCMT1,3_prime_UTR_variant,,ENST00000564011,;LCMT1,3_prime_UTR_variant,,ENST00000380962,;LCMT1,downstream_gene_variant,,ENST00000576382,;	839	104	80	SUCCESS
GSG1L	146395	.	GRCh37	16	27895830	27895830	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141366433	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	96	0	ENST00000447459.2:c.527C>T	p.Ala176Val	p.A176V	ENST00000447459	NM_001109763.1	176	gCg/gTg	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS45450.1	527	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGCGAAG	BUFFER|p.F175F|c.525C>T|3,BUFFER|p.F20F|c.60C>T|3	byCluster	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10671:SF35,hmmpanther:PTHR10671	.	A:0	ENSP00000394954	.	3/7	.	.	.	.	.	.	.	.	rs141366433,COSM969333,COSM969332	3/7	PASS	ENST00000447459	Transcript	.	.	ENSG00000169181	28283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.391)	.	tolerated(0.06)	0,1,1	GSG1L_HUMAN	GSG1L	HGNC	.	.	UPI0000EE765B	SNV	GSG1L,missense_variant,p.Ala21Val,ENST00000380897,;GSG1L,missense_variant,p.Ala21Val,ENST00000569166,;GSG1L,missense_variant,p.Ala176Val,ENST00000447459,;GSG1L,missense_variant,p.Ala21Val,ENST00000380898,;GSG1L,intron_variant,,ENST00000395724,;GSG1L,missense_variant,p.Ala98Val,ENST00000562611,;	612	96	71	SUCCESS
CORO1A	11151	.	GRCh37	16	30198463	30198463	+	synonymous_variant	Silent	SNP	C	C	T	rs745531321	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	54	0	ENST00000219150.5:c.555C>T	p.Ser185=	p.S185=	ENST00000219150	NM_007074.3	185	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS10673.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCCGAGA	NONE	byFrequency	.	PROSITE_profiles:PS50294,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF18,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000219150	.	5/11	.	.	.	.	.	.	.	.	rs745531321	5/11	PASS	ENST00000219150	Transcript	.	.	ENSG00000102879	2252	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COR1A_HUMAN	CORO1A	HGNC	H3BU76_HUMAN,H3BRJ0_HUMAN,H3BNA2_HUMAN	.	UPI00000413AE	SNV	CORO1A,synonymous_variant,p.%3D,ENST00000219150,;CORO1A,synonymous_variant,p.%3D,ENST00000565497,;CORO1A,synonymous_variant,p.%3D,ENST00000563778,;CORO1A,synonymous_variant,p.%3D,ENST00000570244,;CORO1A,synonymous_variant,p.%3D,ENST00000570045,;CORO1A,downstream_gene_variant,,ENST00000569970,;CORO1A,downstream_gene_variant,,ENST00000569203,;CORO1A,downstream_gene_variant,,ENST00000561815,;RP11-455F5.5,upstream_gene_variant,,ENST00000566144,;RP11-455F5.5,upstream_gene_variant,,ENST00000568506,;RP11-455F5.5,upstream_gene_variant,,ENST00000567153,;CORO1A,non_coding_transcript_exon_variant,,ENST00000569469,;CORO1A,downstream_gene_variant,,ENST00000564446,;CORO1A,downstream_gene_variant,,ENST00000566619,;CORO1A,non_coding_transcript_exon_variant,,ENST00000567034,;CORO1A,non_coding_transcript_exon_variant,,ENST00000568763,;CORO1A,non_coding_transcript_exon_variant,,ENST00000564768,;CORO1A,downstream_gene_variant,,ENST00000561849,;CORO1A,upstream_gene_variant,,ENST00000562129,;CORO1A,downstream_gene_variant,,ENST00000568982,;	860	54	36	SUCCESS
CREBBP	1387	.	GRCh37	16	3778436	3778436	+	synonymous_variant	Silent	SNP	C	C	T	rs903906594	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	65	0	ENST00000262367.5:c.6612G>A	p.Gln2204=	p.Q2204=	ENST00000262367	NM_004380.2	2204	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS10509.1	6612	RADIA|MUTECT|MUSE	.	TGCTGCTGTTG	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	.	.	ENSP00000262367	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000262367	Transcript	.	.	ENSG00000005339	2348	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBP_HUMAN	CREBBP	HGNC	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN	.	UPI0000000620	SNV	CREBBP,synonymous_variant,p.%3D,ENST00000262367,;CREBBP,synonymous_variant,p.%3D,ENST00000382070,;CREBBP,downstream_gene_variant,,ENST00000571763,;CREBBP,downstream_gene_variant,,ENST00000576720,;	7422	65	42	SUCCESS
VASN	114990	.	GRCh37	16	4432614	4432614	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757420411	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	126	0	ENST00000304735.3:c.1736C>T	p.Ala579Val	p.A579V	ENST00000304735	NM_138440.2	579	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS10514.1	1736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGCGCCCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000306864	.	2/2	.	.	.	.	.	.	.	.	rs757420411	2/2	PASS	ENST00000304735	Transcript	.	.	ENSG00000168140	18517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.49)	.	VASN_HUMAN	VASN	HGNC	.	.	UPI000003E779	SNV	VASN,missense_variant,p.Ala579Val,ENST00000304735,;CORO7,intron_variant,,ENST00000423908,;CORO7,intron_variant,,ENST00000539968,;CORO7,intron_variant,,ENST00000574025,;CORO7-PAM16,intron_variant,,ENST00000572467,;CORO7,intron_variant,,ENST00000572549,;CORO7,intron_variant,,ENST00000251166,;CORO7,intron_variant,,ENST00000537233,;CORO7,intron_variant,,ENST00000572044,;CORO7,intron_variant,,ENST00000574311,;CORO7-PAM16,intron_variant,,ENST00000575334,;CORO7,intron_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000576437,;CORO7,intron_variant,,ENST00000571227,;CORO7,intron_variant,,ENST00000575714,;	1891	126	103	SUCCESS
ROGDI	79641	.	GRCh37	16	4851539	4851539	+	synonymous_variant	Silent	SNP	G	G	A	rs1455879564	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	73	0	ENST00000322048.7:c.165C>T	p.Pro55=	p.P55=	ENST00000322048	NM_024589.2	55	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS10523.1	165	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCGGGCCC	NONE	.	.	hmmpanther:PTHR13618,hmmpanther:PTHR13618:SF1,Pfam_domain:PF10259	.	.	ENSP00000322832	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000322048	Transcript	.	.	ENSG00000067836	29478	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROGDI_HUMAN	ROGDI	HGNC	D3DUE5_HUMAN	.	UPI0000037B8E	SNV	ROGDI,synonymous_variant,p.%3D,ENST00000322048,;ROGDI,synonymous_variant,p.%3D,ENST00000591392,;ROGDI,intron_variant,,ENST00000587711,;GLYR1,downstream_gene_variant,,ENST00000321919,;ROGDI,upstream_gene_variant,,ENST00000586504,;GLYR1,downstream_gene_variant,,ENST00000381983,;ROGDI,upstream_gene_variant,,ENST00000586153,;GLYR1,downstream_gene_variant,,ENST00000436648,;GLYR1,downstream_gene_variant,,ENST00000589389,;GLYR1,downstream_gene_variant,,ENST00000591451,;ROGDI,upstream_gene_variant,,ENST00000592019,;ROGDI,non_coding_transcript_exon_variant,,ENST00000586336,;ROGDI,synonymous_variant,p.%3D,ENST00000587377,;ROGDI,synonymous_variant,p.%3D,ENST00000587843,;ROGDI,synonymous_variant,p.%3D,ENST00000588201,;ROGDI,non_coding_transcript_exon_variant,,ENST00000591292,;ROGDI,non_coding_transcript_exon_variant,,ENST00000589543,;ROGDI,non_coding_transcript_exon_variant,,ENST00000585871,;ROGDI,non_coding_transcript_exon_variant,,ENST00000590198,;ROGDI,non_coding_transcript_exon_variant,,ENST00000585653,;ROGDI,downstream_gene_variant,,ENST00000592112,;GLYR1,downstream_gene_variant,,ENST00000588732,;GLYR1,downstream_gene_variant,,ENST00000587936,;AC020663.1,downstream_gene_variant,,ENST00000541129,;	544	73	55	SUCCESS
C16orf70	0	.	GRCh37	16	67181027	67181027	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	77	0	ENST00000219139.3:c.1262T>C	p.Leu421Pro	p.L421P	ENST00000219139	NM_025187.3	421	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS10828.1	1262	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACTCCCCT	NONE	.	.	hmmpanther:PTHR13465	.	.	ENSP00000219139	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000219139	Transcript	.	.	ENSG00000125149	29564	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	deleterious_low_confidence(0)	.	CP070_HUMAN	C16orf70	HGNC	H3BSG0_HUMAN	.	UPI0000137911	SNV	C16orf70,missense_variant,p.Leu421Pro,ENST00000219139,;C16orf70,missense_variant,p.Leu421Pro,ENST00000569600,;C16orf70,intron_variant,,ENST00000569277,;B3GNT9,downstream_gene_variant,,ENST00000449549,;C16orf70,downstream_gene_variant,,ENST00000563853,;C16orf70,downstream_gene_variant,,ENST00000567162,;	1450	77	61	SUCCESS
KIAA0895L	653319	.	GRCh37	16	67214463	67214463	+	synonymous_variant	Silent	SNP	C	C	T	rs564826051	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	91	0	ENST00000290881.7:c.51G>A	p.Pro17=	p.P17=	ENST00000290881		17	ccG/ccA	0	.	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS42177.1	51	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGCGGGCT	NONE	by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR31817:SF1,hmmpanther:PTHR31817	T:0	.	ENSP00000290881	T:0	3/8	.	.	.	.	.	.	.	.	rs564826051,COSM377152	3/8	PASS	ENST00000290881	Transcript	.	T:0.0002	ENSG00000196123	34408	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0.001	.	0,1	K895L_HUMAN	KIAA0895L	HGNC	J3KRL4_HUMAN	.	UPI00001AEB6A	SNV	KIAA0895L,synonymous_variant,p.%3D,ENST00000290881,;KIAA0895L,synonymous_variant,p.%3D,ENST00000561621,;KIAA0895L,synonymous_variant,p.%3D,ENST00000563902,;NOL3,downstream_gene_variant,,ENST00000432069,;EXOC3L1,downstream_gene_variant,,ENST00000545725,;EXOC3L1,downstream_gene_variant,,ENST00000563889,;KIAA0895L,upstream_gene_variant,,ENST00000568563,;NOL3,downstream_gene_variant,,ENST00000268605,;NOL3,downstream_gene_variant,,ENST00000568146,;EXOC3L1,downstream_gene_variant,,ENST00000314586,;KIAA0895L,intron_variant,,ENST00000563831,;KIAA0895L,intron_variant,,ENST00000564423,;KIAA0895L,upstream_gene_variant,,ENST00000563918,;KIAA0895L,upstream_gene_variant,,ENST00000570009,;KIAA0895L,upstream_gene_variant,,ENST00000562514,;KIAA0895L,intron_variant,,ENST00000569349,;KIAA0895L,upstream_gene_variant,,ENST00000568165,;NOL3,downstream_gene_variant,,ENST00000568503,;KIAA0895L,upstream_gene_variant,,ENST00000561679,;EXOC3L1,downstream_gene_variant,,ENST00000564324,;KIAA0895L,upstream_gene_variant,,ENST00000564835,;EXOC3L1,downstream_gene_variant,,ENST00000563536,;	978	91	59	SUCCESS
RLTPR	0	.	GRCh37	16	67683458	67683458	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	34	0	ENST00000334583.6:c.1855A>G	p.Asn619Asp	p.N619D	ENST00000334583	NM_001013838.1	619	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS45513.1	1855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCAACGCC	NONE	.	.	hmmpanther:PTHR24112:SF41,hmmpanther:PTHR24112,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047	.	.	ENSP00000334958	.	20/38	.	.	.	.	.	.	.	.	.	20/38	PASS	ENST00000334583	Transcript	.	.	ENSG00000159753	27089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LR16C_HUMAN	RLTPR	HGNC	.	.	UPI00005194F2	SNV	RLTPR,missense_variant,p.Asn619Asp,ENST00000334583,;RLTPR,missense_variant,p.Asn583Asp,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,upstream_gene_variant,,ENST00000602368,;RLTPR,downstream_gene_variant,,ENST00000602467,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,downstream_gene_variant,,ENST00000602742,;	2183	34	31	SUCCESS
SF3B3	23450	.	GRCh37	16	70605061	70605061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1270233465	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	30	82	0	ENST00000302516.5:c.3472C>T	p.Arg1158Trp	p.R1158W	ENST00000302516	NM_012426.4	1158	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10894.1	3472	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGGGAC	NONE	.	.	hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Pfam_domain:PF03178	.	.	ENSP00000305790	.	25/26	.	.	.	.	.	.	.	.	COSM1640541	25/26	PASS	ENST00000302516	Transcript	.	.	ENSG00000189091	10770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SF3B3_HUMAN	SF3B3	HGNC	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN	.	UPI0000167878	SNV	SF3B3,missense_variant,p.Arg1158Trp,ENST00000302516,;SF3B3,non_coding_transcript_exon_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000563739,;	3683	82	75	SUCCESS
FBXL16	146330	.	GRCh37	16	744677	744677	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	35	111	0	ENST00000324361.5:c.1248G>A	p.Lys416=	p.K416=	ENST00000324361		416	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS10421.1	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGCTTCAG	NONE	.	.	hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF233,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	.	.	ENSP00000380746	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000397621	Transcript	.	.	ENSG00000127585	14150	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL16_HUMAN	FBXL16	HGNC	Q8N4J3_HUMAN,B3KR59_HUMAN	.	UPI0000141371	SNV	FBXL16,synonymous_variant,p.%3D,ENST00000324361,;FBXL16,synonymous_variant,p.%3D,ENST00000397621,;FBXL16,synonymous_variant,p.%3D,ENST00000562563,;WDR24,upstream_gene_variant,,ENST00000293883,;WDR24,upstream_gene_variant,,ENST00000248142,;LA16c-313D11.12,downstream_gene_variant,,ENST00000566927,;FBXL16,non_coding_transcript_exon_variant,,ENST00000562585,;FBXL16,non_coding_transcript_exon_variant,,ENST00000562648,;LA16c-313D11.12,downstream_gene_variant,,ENST00000575305,;	1580	111	95	SUCCESS
CHTF18	63922	.	GRCh37	16	844174	844174	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	50	122	0	ENST00000262315.9:c.1923T>C	p.Ser641=	p.S641=	ENST00000262315	NM_022092.2	641	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS45371.1	1923	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTGCGGG	NONE	.	.	hmmpanther:PTHR23389:SF3,hmmpanther:PTHR23389	.	.	ENSP00000262315	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000262315	Transcript	.	.	ENSG00000127586	18435	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTF18_HUMAN	CHTF18	HGNC	.	.	UPI00000710D2	SNV	CHTF18,synonymous_variant,p.%3D,ENST00000455171,;CHTF18,synonymous_variant,p.%3D,ENST00000262315,;CHTF18,synonymous_variant,p.%3D,ENST00000317063,;CHTF18,downstream_gene_variant,,ENST00000426047,;GNG13,downstream_gene_variant,,ENST00000248150,;CHTF18,non_coding_transcript_exon_variant,,ENST00000461268,;CHTF18,downstream_gene_variant,,ENST00000570058,;CHTF18,downstream_gene_variant,,ENST00000491530,;CHTF18,upstream_gene_variant,,ENST00000564940,;CHTF18,upstream_gene_variant,,ENST00000493715,;CHTF18,non_coding_transcript_exon_variant,,ENST00000464728,;CHTF18,non_coding_transcript_exon_variant,,ENST00000471202,;CHTF18,upstream_gene_variant,,ENST00000498439,;CHTF18,downstream_gene_variant,,ENST00000565787,;CHTF18,downstream_gene_variant,,ENST00000440239,;CHTF18,downstream_gene_variant,,ENST00000479976,;CHTF18,downstream_gene_variant,,ENST00000563545,;CHTF18,downstream_gene_variant,,ENST00000484349,;CHTF18,downstream_gene_variant,,ENST00000569270,;CHTF18,downstream_gene_variant,,ENST00000567620,;	1986	122	99	SUCCESS
PIEZO1	9780	.	GRCh37	16	88786942	88786942	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	36	0	ENST00000301015.9:c.5802-2A>G		p.X1934_splice	ENST00000301015	NM_001142864.2	1934		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54058.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCCTGCGGA	NONE	.	.	.	.	.	ENSP00000301015	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301015	Transcript	.	.	ENSG00000103335	28993	.	.	HIGH	40/50	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PIEZ1_HUMAN	PIEZO1	HGNC	.	.	UPI0001B300F3	SNV	PIEZO1,splice_acceptor_variant,,ENST00000301015,;PIEZO1,upstream_gene_variant,,ENST00000327397,;PIEZO1,downstream_gene_variant,,ENST00000474606,;PIEZO1,upstream_gene_variant,,ENST00000518793,;PIEZO1,upstream_gene_variant,,ENST00000466823,;MIR4722,upstream_gene_variant,,ENST00000578292,;RP5-1142A6.9,downstream_gene_variant,,ENST00000564984,;PIEZO1,upstream_gene_variant,,ENST00000419505,;PIEZO1,downstream_gene_variant,,ENST00000566414,;PIEZO1,upstream_gene_variant,,ENST00000484567,;PIEZO1,upstream_gene_variant,,ENST00000472168,;PIEZO1,upstream_gene_variant,,ENST00000521877,;PIEZO1,upstream_gene_variant,,ENST00000495568,;PIEZO1,downstream_gene_variant,,ENST00000475586,;PIEZO1,upstream_gene_variant,,ENST00000497793,;	.	36	37	SUCCESS
ANKRD11	29123	.	GRCh37	16	89354978	89354978	+	synonymous_variant	Silent	SNP	G	G	A	rs192798250	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	82	0	ENST00000301030.4:c.702C>T	p.Asp234=	p.D234=	ENST00000301030	NM_001256183.1	234	gaC/gaT	0	A:0.0002	A:0	.	A:0	.	A	D	protein_coding	YES	CCDS32513.1	702	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGTCATC	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24145,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	A:0	A:0	ENSP00000301030	A:0.001	7/13	.	.	.	.	.	.	.	.	rs192798250	7/13	PASS	ENST00000301030	Transcript	.	A:0.0002	ENSG00000167522	21316	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,synonymous_variant,p.%3D,ENST00000301030,;ANKRD11,synonymous_variant,p.%3D,ENST00000378330,;ANKRD11,synonymous_variant,p.%3D,ENST00000562194,;ANKRD11,downstream_gene_variant,,ENST00000562816,;ANKRD11,3_prime_UTR_variant,,ENST00000562275,;ANKRD11,3_prime_UTR_variant,,ENST00000378332,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000564553,;ANKRD11,upstream_gene_variant,,ENST00000568100,;	1163	82	74	SUCCESS
GRIN2A	2903	.	GRCh37	16	9858337	9858337	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs560057284	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	75	0	ENST00000330684.3:c.3064C>T	p.Arg1022Cys	p.R1022C	ENST00000330684	NM_001134407.1	1022	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS10539.1	3064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCGTATGG	NONE	byFrequency|by1000G	.	Pfam_domain:PF10565	A:0.002	.	ENSP00000379818	A:0	14/14	.	.	.	.	.	.	.	.	rs560057284,COSM975079	14/14	PASS	ENST00000396573	Transcript	.	A:0.0004	ENSG00000183454	4585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.992)	A:0	deleterious_low_confidence(0)	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,missense_variant,p.Arg865Cys,ENST00000535259,;GRIN2A,missense_variant,p.Arg1022Cys,ENST00000330684,;GRIN2A,missense_variant,p.Arg1022Cys,ENST00000396573,;GRIN2A,missense_variant,p.Arg1022Cys,ENST00000404927,;GRIN2A,missense_variant,p.Arg1022Cys,ENST00000396575,;GRIN2A,missense_variant,p.Arg1022Cys,ENST00000562109,;GRIN2A,upstream_gene_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	3374	75	53	SUCCESS
ELAC2	60528	.	GRCh37	17	12897811	12897811	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	134	0	ENST00000338034.4:c.2039C>T	p.Ala680Val	p.A680V	ENST00000338034	NM_018127.6	680	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11164.1	2039	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGCATCT	NONE	.	.	hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44,Gene3D:3.60.15.10,Pfam_domain:PF12706,Superfamily_domains:SSF56281	.	.	ENSP00000337445	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,missense_variant,p.Ala480Val,ENST00000584650,;ELAC2,missense_variant,p.Ala640Val,ENST00000426905,;ELAC2,missense_variant,p.Ala680Val,ENST00000338034,;ELAC2,missense_variant,p.Ala661Val,ENST00000395962,;ARHGAP44,downstream_gene_variant,,ENST00000340825,;ARHGAP44,downstream_gene_variant,,ENST00000262444,;ARHGAP44,downstream_gene_variant,,ENST00000379672,;ELAC2,downstream_gene_variant,,ENST00000446899,;RP11-597M12.1,upstream_gene_variant,,ENST00000582915,;ELAC2,non_coding_transcript_exon_variant,,ENST00000491478,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;ELAC2,non_coding_transcript_exon_variant,,ENST00000480891,;ELAC2,non_coding_transcript_exon_variant,,ENST00000487229,;ELAC2,non_coding_transcript_exon_variant,,ENST00000465825,;ARHGAP44,downstream_gene_variant,,ENST00000580768,;ELAC2,downstream_gene_variant,,ENST00000492559,;ELAC2,downstream_gene_variant,,ENST00000578991,;ARHGAP44,downstream_gene_variant,,ENST00000544416,;	2279	134	92	SUCCESS
CDRT1	374286	.	GRCh37	17	15492292	15492292	+	synonymous_variant	Silent	SNP	C	C	T	rs542008653	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	33	60	0	ENST00000395906.3:c.2256G>A	p.Val752=	p.V752=	ENST00000395906	NM_006382.3	752	gtG/gtA	0	.	T:0	.	T:0	.	T	V	protein_coding	YES	CCDS45619.1	2256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTACACACC	NONE	by1000G	.	.	T:0	.	ENSP00000379242	T:0	12/12	.	.	.	.	.	.	.	.	rs542008653	12/12	PASS	ENST00000395906	Transcript	.	T:0.0002	ENSG00000241322	14379	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	CDRT1_HUMAN	CDRT1	HGNC	.	.	UPI00015D57D8	SNV	CDRT1,synonymous_variant,p.%3D,ENST00000395906,;CDRT1,synonymous_variant,p.%3D,ENST00000354433,;CDRT1,3_prime_UTR_variant,,ENST00000583965,;RP11-385D13.1,intron_variant,,ENST00000455584,;CDRT1,intron_variant,,ENST00000472534,;CDRT1,3_prime_UTR_variant,,ENST00000571263,;AC005838.2,non_coding_transcript_exon_variant,,ENST00000430712,;	2256	60	71	SUCCESS
TRPV2	51393	.	GRCh37	17	16330835	16330835	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	64	88	0	ENST00000338560.7:c.1329del	p.Ile444SerfsTer23	p.I444Sfs*23	ENST00000338560	NM_016113.4	442	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS32576.1	1324	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCTAGGGGGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF5,TIGRFAM_domain:TIGR00870	.	.	ENSP00000342222	.	8/15	.	.	.	.	.	.	.	.	COSM292830	8/15	PASS	ENST00000338560	Transcript	.	.	ENSG00000187688	18082	5	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	TRPV2_HUMAN	TRPV2	HGNC	J3QKR1_HUMAN	.	UPI0000032F4E	deletion	TRPV2,frameshift_variant,p.Ile14SerfsTer23,ENST00000577397,;TRPV2,frameshift_variant,p.Ile444SerfsTer23,ENST00000338560,;TRPV2,upstream_gene_variant,,ENST00000577865,;TRPV2,upstream_gene_variant,,ENST00000580788,;TRPV2,upstream_gene_variant,,ENST00000577277,;TRPV2,downstream_gene_variant,,ENST00000455666,;TRPV2,upstream_gene_variant,,ENST00000581560,;TRPV2,upstream_gene_variant,,ENST00000583241,;AC093484.4,non_coding_transcript_exon_variant,,ENST00000441875,;	1723	88	196	SUCCESS
SREBF1	6720	.	GRCh37	17	17723627	17723627	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	32	52	1	ENST00000261646.5:c.300C>T	p.Pro100=	p.P100=	ENST00000261646	NM_004176.4	100	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS32583.1	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	.	.	ENSP00000348069	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000355815	Transcript	.	.	ENSG00000072310	11289	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBP1_HUMAN	SREBF1	HGNC	J3QLB6_HUMAN,B5MD58_HUMAN	.	UPI00004432F6	SNV	SREBF1,synonymous_variant,p.%3D,ENST00000423161,;SREBF1,synonymous_variant,p.%3D,ENST00000338854,;SREBF1,synonymous_variant,p.%3D,ENST00000355815,;SREBF1,synonymous_variant,p.%3D,ENST00000261646,;SREBF1,synonymous_variant,p.%3D,ENST00000435530,;SREBF1,intron_variant,,ENST00000577897,;SREBF1,upstream_gene_variant,,ENST00000395757,;SREBF1,intron_variant,,ENST00000583732,;SREBF1,5_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,upstream_gene_variant,,ENST00000583080,;SREBF1,upstream_gene_variant,,ENST00000487401,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,upstream_gene_variant,,ENST00000395756,;SREBF1,upstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000580540,;SREBF1,upstream_gene_variant,,ENST00000470247,;	560	53	63	SUCCESS
TP53I13	90313	.	GRCh37	17	27899414	27899414	+	synonymous_variant	Silent	SNP	G	G	A	rs760729689	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	59	0	ENST00000301057.7:c.768G>A	p.Pro256=	p.P256=	ENST00000301057	NM_138349.2	256	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS42289.1	768	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGGGGGC	NONE	byFrequency	.	.	.	.	ENSP00000301057	.	6/7	.	.	.	.	.	.	.	.	rs760729689	6/7	PASS	ENST00000301057	Transcript	.	.	ENSG00000167543	25102	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P5I13_HUMAN	TP53I13	HGNC	K7ERH9_HUMAN,K7ELD4_HUMAN,K7EKX3_HUMAN,K7EJC6_HUMAN,J3KSX2_HUMAN	.	UPI000003B08D	SNV	TP53I13,synonymous_variant,p.%3D,ENST00000301057,;GIT1,downstream_gene_variant,,ENST00000225394,;TP53I13,downstream_gene_variant,,ENST00000583940,;GIT1,downstream_gene_variant,,ENST00000394869,;GIT1,downstream_gene_variant,,ENST00000581348,;GIT1,downstream_gene_variant,,ENST00000579937,;GIT1,downstream_gene_variant,,ENST00000585148,;GIT1,downstream_gene_variant,,ENST00000578266,;TP53I13,downstream_gene_variant,,ENST00000580183,;TP53I13,upstream_gene_variant,,ENST00000378818,;TP53I13,downstream_gene_variant,,ENST00000581411,;TP53I13,downstream_gene_variant,,ENST00000578749,;TP53I13,downstream_gene_variant,,ENST00000582829,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.4,downstream_gene_variant,,ENST00000579050,;TP53I13,downstream_gene_variant,,ENST00000584522,;TP53I13,downstream_gene_variant,,ENST00000578073,;TP53I13,non_coding_transcript_exon_variant,,ENST00000579674,;GIT1,downstream_gene_variant,,ENST00000581925,;GIT1,downstream_gene_variant,,ENST00000586574,;TP53I13,downstream_gene_variant,,ENST00000577934,;GIT1,downstream_gene_variant,,ENST00000578670,;GIT1,downstream_gene_variant,,ENST00000473217,;GIT1,downstream_gene_variant,,ENST00000491377,;TP53I13,downstream_gene_variant,,ENST00000580132,;	883	59	71	SUCCESS
RHOT1	55288	.	GRCh37	17	30530945	30530945	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	87	0	ENST00000333942.6:c.1369T>C	p.Tyr457His	p.Y457H	ENST00000333942	NM_018307.3	457	Tat/Cat	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS32610.1	1369	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACTATGCG	NONE	.	.	Superfamily_domains:SSF52540,PIRSF_domain:PIRSF037488,Gene3D:3.40.50.300,Pfam_domain:PF08477,PROSITE_profiles:PS51423	.	.	ENSP00000351132	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000358365	Transcript	.	.	ENSG00000126858	21168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.213)	.	tolerated(0.09)	.	MIRO1_HUMAN	RHOT1	HGNC	.	.	UPI0000074394	SNV	RHOT1,missense_variant,p.Tyr436His,ENST00000354266,;RHOT1,missense_variant,p.Tyr330His,ENST00000583994,;RHOT1,missense_variant,p.Tyr457His,ENST00000581094,;RHOT1,missense_variant,p.Tyr41His,ENST00000582602,;RHOT1,missense_variant,p.Tyr457His,ENST00000394692,;RHOT1,missense_variant,p.Tyr457His,ENST00000358365,;RHOT1,missense_variant,p.Tyr457His,ENST00000545287,;RHOT1,missense_variant,p.Tyr457His,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000581148,;RHOT1,upstream_gene_variant,,ENST00000584852,;RHOT1,upstream_gene_variant,,ENST00000580392,;RHOT1,downstream_gene_variant,,ENST00000580976,;RHOT1,missense_variant,p.Tyr457His,ENST00000581031,;RHOT1,3_prime_UTR_variant,,ENST00000578205,;RHOT1,non_coding_transcript_exon_variant,,ENST00000581567,;RHOT1,upstream_gene_variant,,ENST00000584692,;	1596	87	97	SUCCESS
RAD51D	5892	.	GRCh37	17	33434093	33434093	+	intron_variant	Intron	SNP	C	C	T	rs201141245	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	44	0	ENST00000335858.7:c.145-593G>A		p.*49*	ENST00000335858	NM_133629.2			0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS45646.1	454	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGACGTTTT	NONE	.	.	PROSITE_profiles:PS50162,hmmpanther:PTHR22942:SF8,hmmpanther:PTHR22942,Gene3D:3.40.50.300,Pfam_domain:PF13481,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000466399	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000590016	Transcript	.	.	ENSG00000185379	9823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.573)	.	deleterious(0.05)	.	RA51D_HUMAN	RAD51D	HGNC	Q7Z790_HUMAN,K7EMF1_HUMAN,K7EJ58_HUMAN,H0UID0_HUMAN	.	UPI0000EE7634	SNV	RAD51D,missense_variant,p.Val152Ile,ENST00000590016,;RAD51L3-RFFL,missense_variant,p.Val13Ile,ENST00000592181,;RAD51D,missense_variant,p.Val13Ile,ENST00000587405,;RAD51D,missense_variant,p.Val134Ile,ENST00000592577,;RAD51D,missense_variant,p.Val13Ile,ENST00000460118,;RAD51D,missense_variant,p.Val132Ile,ENST00000394589,;RAD51D,missense_variant,p.Val132Ile,ENST00000345365,;RAD51L3-RFFL,intron_variant,,ENST00000591723,;RAD51D,intron_variant,,ENST00000360276,;RAD51D,intron_variant,,ENST00000335858,;RAD51D,intron_variant,,ENST00000590631,;RAD51L3-RFFL,intron_variant,,ENST00000593039,;RAD51D,non_coding_transcript_exon_variant,,ENST00000415064,;RAD51D,non_coding_transcript_exon_variant,,ENST00000592430,;RAD51D,intron_variant,,ENST00000590380,;RAD51D,intron_variant,,ENST00000587982,;RAD51D,intron_variant,,ENST00000585982,;RAD51D,missense_variant,p.Val13Ile,ENST00000588372,;RAD51D,synonymous_variant,p.%3D,ENST00000586210,;RAD51D,3_prime_UTR_variant,,ENST00000587977,;RAD51D,3_prime_UTR_variant,,ENST00000586044,;RAD51D,3_prime_UTR_variant,,ENST00000585343,;RAD51D,non_coding_transcript_exon_variant,,ENST00000585947,;RAD51D,intron_variant,,ENST00000586186,;RAD51D,intron_variant,,ENST00000588594,;RAD51D,intron_variant,,ENST00000592850,;RAD51D,intron_variant,,ENST00000592928,;RAD51D,downstream_gene_variant,,ENST00000589506,;	654	44	54	SUCCESS
MLLT6	4302	.	GRCh37	17	36876002	36876002	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	50	146	0	ENST00000325718.7:c.2010-1G>T		p.X670_splice	ENST00000325718	NM_005937.3	670		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11327.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGGTCCC	NONE	.	.	.	.	.	ENSP00000316426	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325718	Transcript	.	.	ENSG00000108292	7138	.	.	HIGH	13/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF17_HUMAN	MLLT6	HGNC	.	.	UPI000013C86A	SNV	MLLT6,splice_acceptor_variant,,ENST00000325718,;MLLT6,splice_acceptor_variant,,ENST00000471200,;MLLT6,downstream_gene_variant,,ENST00000378137,;MIR4726,downstream_gene_variant,,ENST00000577947,;CTB-58E17.9,intron_variant,,ENST00000579499,;MLLT6,splice_acceptor_variant,,ENST00000494578,;MLLT6,upstream_gene_variant,,ENST00000484263,;MLLT6,downstream_gene_variant,,ENST00000433891,;MLLT6,downstream_gene_variant,,ENST00000466997,;MLLT6,downstream_gene_variant,,ENST00000578946,;	.	146	155	SUCCESS
PSMB3	5691	.	GRCh37	17	36912245	36912245	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	77	0	ENST00000225426.4:c.296+2T>C		p.X99_splice	ENST00000225426	NM_002795.2	99		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11328.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGGTGAGTG	NONE	.	.	.	.	.	ENSP00000225426	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000225426	Transcript	.	.	ENSG00000108294	9540	.	.	HIGH	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB3_HUMAN	PSMB3	HGNC	J3QKR3_HUMAN	.	UPI00001325B3	SNV	PSMB3,splice_donor_variant,,ENST00000225426,;PSMB3,splice_donor_variant,,ENST00000579088,;RNU6-866P,upstream_gene_variant,,ENST00000516469,;PSMB3,splice_donor_variant,,ENST00000584662,;PSMB3,splice_donor_variant,,ENST00000579729,;PSMB3,upstream_gene_variant,,ENST00000581388,;	.	77	68	SUCCESS
ATP2A3	489	.	GRCh37	17	3844585	3844585	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs745362732	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	38	86	0	ENST00000352011.3:c.1780G>A	p.Val594Met	p.V594M	ENST00000352011		594	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS11042.1	1780	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACGAAGG	NONE	byFrequency	.	Superfamily_domains:SSF81660,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01116,Pfam_domain:PF00702,Gene3D:3.40.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF280	.	.	ENSP00000353072	.	14/23	.	.	.	.	.	.	.	.	rs745362732	14/23	PASS	ENST00000359983	Transcript	.	.	ENSG00000074370	813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT2A3_HUMAN	ATP2A3	HGNC	.	.	UPI0000161584	SNV	ATP2A3,missense_variant,p.Val594Met,ENST00000397043,;ATP2A3,missense_variant,p.Val594Met,ENST00000359983,;ATP2A3,missense_variant,p.Val594Met,ENST00000309890,;ATP2A3,missense_variant,p.Val594Met,ENST00000397035,;ATP2A3,missense_variant,p.Val594Met,ENST00000397041,;ATP2A3,missense_variant,p.Val594Met,ENST00000352011,;ATP2A3,5_prime_UTR_variant,,ENST00000397039,;ATP2A3,upstream_gene_variant,,ENST00000576957,;ATP2A3,downstream_gene_variant,,ENST00000572694,;ATP2A3,upstream_gene_variant,,ENST00000572176,;	1780	86	86	SUCCESS
TOP2A	7153	.	GRCh37	17	38564371	38564371	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1419834274	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	40	186	0	ENST00000423485.1:c.1348C>T	p.Arg450Ter	p.R450*	ENST00000423485	NM_001067.3	450	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS45672.1	1348	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGGCCCC	NONE	.	.	hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Gene3D:3.40.50.670,SMART_domains:SM00433,Superfamily_domains:SSF56719,Prints_domain:PR01158	.	.	ENSP00000411532	.	12/35	.	.	.	.	.	.	.	.	.	12/35	PASS	ENST00000423485	Transcript	.	.	ENSG00000131747	11989	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOP2A_HUMAN	TOP2A	HGNC	J3QR57_HUMAN,J3KTB7_HUMAN	.	UPI0000137195	SNV	TOP2A,stop_gained,p.Arg450Ter,ENST00000423485,;	1507	186	212	SUCCESS
KRT12	3859	.	GRCh37	17	39019563	39019563	+	synonymous_variant	Silent	SNP	G	G	A	rs373922617	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	49	128	0	ENST00000251643.4:c.1128C>T	p.Ala376=	p.A376=	ENST00000251643	NM_000223.3	376	gcC/gcT	0	C:0	.	.	.	.	A	A	protein_coding	YES	CCDS11378.1	1128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGGCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF115,hmmpanther:PTHR23239	.	C:0.0001	ENSP00000251643	.	6/8	.	.	.	.	.	.	.	.	rs373922617,COSM2839580	6/8	PASS	ENST00000251643	Transcript	.	.	ENSG00000187242	6414	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	K1C12_HUMAN	KRT12	HGNC	.	.	UPI000012DAE4	SNV	KRT12,synonymous_variant,p.%3D,ENST00000251643,;RP5-1110E20.1,downstream_gene_variant,,ENST00000579136,;	1152	128	137	SUCCESS
KCNH4	23415	.	GRCh37	17	40315341	40315341	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	10	48	0	ENST00000264661.3:c.2489G>A	p.Gly830Asp	p.G830D	ENST00000264661	NM_012285.2	830	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS11420.1	2489	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGCCATCC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378	.	.	ENSP00000264661	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000264661	Transcript	.	.	ENSG00000089558	6253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNH4_HUMAN	KCNH4	HGNC	.	.	UPI000012DCA8	SNV	KCNH4,missense_variant,p.Gly830Asp,ENST00000264661,;KCNH4,missense_variant,p.Gly830Asp,ENST00000607371,;	2822	48	41	SUCCESS
AOC2	314	.	GRCh37	17	41001289	41001289	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs267604890	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	80	0	ENST00000253799.3:c.1775C>T	p.Ala592Val	p.A592V	ENST00000253799	NM_009590.2	592	gCg/gTg	0	.	T:0.0008	.	T:0	.	T	A/V	protein_coding	YES	CCDS11443.1	1775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	not_provided	TAATGCGTGGG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF49998,Gene3D:2.70.98.20,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4	T:0	.	ENSP00000253799	T:0	2/4	.	.	.	.	.	.	.	.	rs267604890,COSM1679845	2/4	PASS	ENST00000253799	Transcript	.	T:0.0002	ENSG00000131480	549	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.009)	T:0	deleterious(0.02)	0,1	AOC2_HUMAN	AOC2	HGNC	.	.	UPI000013CDF4	SNV	AOC2,missense_variant,p.Ala592Val,ENST00000253799,;AOC2,missense_variant,p.Ala592Val,ENST00000452774,;AOC3,upstream_gene_variant,,ENST00000591562,;AOC3,upstream_gene_variant,,ENST00000308423,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000587330,;	1802	80	93	SUCCESS
TMUB2	79089	.	GRCh37	17	42266521	42266521	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1179679451	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	73	0	ENST00000538716.2:c.167C>T	p.Thr56Ile	p.T56I	ENST00000538716	NM_001076674.1	56	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS54134.1	167	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTACCTACG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR14557:SF4,hmmpanther:PTHR14557	.	.	ENSP00000466971	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000587989	Transcript	.	.	ENSG00000168591	28459	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	TMUB2_HUMAN	TMUB2	HGNC	.	.	UPI0000201381	SNV	TMUB2,missense_variant,p.Thr36Ile,ENST00000589856,;TMUB2,missense_variant,p.Thr36Ile,ENST00000319511,;TMUB2,missense_variant,p.Thr36Ile,ENST00000357984,;TMUB2,missense_variant,p.Thr36Ile,ENST00000587172,;TMUB2,missense_variant,p.Thr36Ile,ENST00000589785,;TMUB2,missense_variant,p.Thr36Ile,ENST00000446571,;TMUB2,missense_variant,p.Thr36Ile,ENST00000590235,;TMUB2,missense_variant,p.Thr36Ile,ENST00000592825,;TMUB2,missense_variant,p.Thr56Ile,ENST00000587989,;TMUB2,missense_variant,p.Thr56Ile,ENST00000538716,;TMUB2,intron_variant,,ENST00000589184,;ATXN7L3,downstream_gene_variant,,ENST00000591295,;TMUB2,upstream_gene_variant,,ENST00000587630,;ATXN7L3,downstream_gene_variant,,ENST00000389384,;ATXN7L3,downstream_gene_variant,,ENST00000454077,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;TMUB2,missense_variant,p.Thr36Ile,ENST00000587326,;TMUB2,intron_variant,,ENST00000588413,;TMUB2,intron_variant,,ENST00000587775,;	320	73	69	SUCCESS
GFAP	2670	.	GRCh37	17	42987350	42987350	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	19	0	ENST00000253408.5:c.1171+633A>G		p.*391*	ENST00000253408	NM_002055.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59296.1	.	SOMATICSNIPER|MUTECT|MUSE	.	CGTCCTGGGCT	NONE	.	367	.	.	.	ENSP00000468500	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000586793	Transcript	.	.	ENSG00000131095	4235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GFAP_HUMAN	GFAP	HGNC	K7EKD1_HUMAN,K7EJK1_HUMAN,A7REI1_HUMAN	.	UPI0000680AD5	SNV	GFAP,3_prime_UTR_variant,,ENST00000435360,;GFAP,intron_variant,,ENST00000253408,;GFAP,intron_variant,,ENST00000591880,;GFAP,intron_variant,,ENST00000586125,;GFAP,intron_variant,,ENST00000588735,;GFAP,downstream_gene_variant,,ENST00000587997,;FAM187A,downstream_gene_variant,,ENST00000331733,;CCDC103,downstream_gene_variant,,ENST00000417826,;GFAP,downstream_gene_variant,,ENST00000586127,;GFAP,downstream_gene_variant,,ENST00000588316,;GFAP,downstream_gene_variant,,ENST00000588957,;GFAP,downstream_gene_variant,,ENST00000592320,;GFAP,downstream_gene_variant,,ENST00000586793,;FAM187A,downstream_gene_variant,,ENST00000412523,;GFAP,downstream_gene_variant,,ENST00000588037,;GFAP,intron_variant,,ENST00000588640,;GFAP,downstream_gene_variant,,ENST00000591719,;GFAP,upstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000591327,;GFAP,upstream_gene_variant,,ENST00000592065,;GFAP,intron_variant,,ENST00000585543,;GFAP,downstream_gene_variant,,ENST00000585728,;GFAP,downstream_gene_variant,,ENST00000376990,;GFAP,upstream_gene_variant,,ENST00000589701,;GFAP,downstream_gene_variant,,ENST00000590922,;	.	19	13	SUCCESS
FMNL1	752	.	GRCh37	17	43322423	43322423	+	synonymous_variant	Silent	SNP	G	G	A	rs1046843775	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	16	97	0	ENST00000331495.3:c.2676G>A	p.Pro892=	p.P892=	ENST00000331495	NM_005892.3	892	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS11497.1	2676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCCGCAACT	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000329219	.	21/27	.	.	.	.	.	.	.	.	.	21/27	PASS	ENST00000331495	Transcript	.	.	ENSG00000184922	1212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMNL_HUMAN	FMNL1	HGNC	.	.	UPI0000246EE9	SNV	FMNL1,synonymous_variant,p.%3D,ENST00000331495,;FMNL1,synonymous_variant,p.%3D,ENST00000328118,;FMNL1,synonymous_variant,p.%3D,ENST00000587489,;FMNL1,synonymous_variant,p.%3D,ENST00000586643,;FMNL1,upstream_gene_variant,,ENST00000586092,;FMNL1,upstream_gene_variant,,ENST00000589911,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,;CTD-2020K17.4,downstream_gene_variant,,ENST00000420431,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	3012	97	100	SUCCESS
NSF	4905	.	GRCh37	17	44803929	44803929	+	synonymous_variant	Silent	SNP	G	G	A	rs752142007	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	85	0	ENST00000398238.4:c.1776G>A	p.Ala592=	p.A592=	ENST00000398238	NM_006178.3	592	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42354.1	1776	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGTACAA	NONE	.	.	hmmpanther:PTHR23078,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000381293	.	16/21	.	.	.	.	.	.	.	.	rs752142007	16/21	PASS	ENST00000398238	Transcript	.	.	ENSG00000073969	8016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSF_HUMAN	NSF	HGNC	Q96D47_HUMAN,I3L338_HUMAN,I3L2G1_HUMAN,I3L0N3_HUMAN,I3L0L3_HUMAN,B4DH19_HUMAN,B4DFA2_HUMAN	.	UPI000006D238	SNV	NSF,synonymous_variant,p.%3D,ENST00000465370,;NSF,synonymous_variant,p.%3D,ENST00000576346,;NSF,synonymous_variant,p.%3D,ENST00000225282,;NSF,synonymous_variant,p.%3D,ENST00000398238,;NSF,synonymous_variant,p.%3D,ENST00000575068,;RPS7P11,upstream_gene_variant,,ENST00000484240,;	1883	85	85	SUCCESS
TMEM92	162461	.	GRCh37	17	48356249	48356249	+	synonymous_variant	Silent	SNP	G	G	A	rs563916883	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	54	0	ENST00000300433.3:c.258G>A	p.Pro86=	p.P86=	ENST00000300433	NM_001168215.1	86	ccG/ccA	0	.	A:0.0008	.	A:0	.	A	P	protein_coding	YES	CCDS11562.1	258	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCGGAGCC	NONE	by1000G	.	hmmpanther:PTHR31359	A:0	.	ENSP00000300433	A:0	5/6	.	.	.	.	.	.	.	.	rs563916883	5/6	PASS	ENST00000300433	Transcript	.	A:0.0002	ENSG00000167105	26579	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	TMM92_HUMAN	TMEM92	HGNC	.	.	UPI000013E65C	SNV	TMEM92,synonymous_variant,p.%3D,ENST00000300433,;TMEM92,synonymous_variant,p.%3D,ENST00000507382,;RP11-893F2.9,downstream_gene_variant,,ENST00000508851,;TMEM92,non_coding_transcript_exon_variant,,ENST00000511882,;	368	54	38	SUCCESS
SPAG9	9043	.	GRCh37	17	49071264	49071266	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-	rs763614987	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	113	0	ENST00000262013.7:c.2257_2259del	p.Glu753del	p.E753del	ENST00000262013	NM_001130528.2	753	GAA/-	0	.	.	.	.	.	-	E/-	protein_coding	YES	CCDS45740.1	2257-2259	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATAATTCTTCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13886	.	.	ENSP00000262013	.	19/30	.	.	.	.	.	.	.	.	rs763614987	19/30	PASS	ENST00000262013	Transcript	.	.	ENSG00000008294	14524	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	deletion	SPAG9,inframe_deletion,p.Glu596del,ENST00000510283,;SPAG9,inframe_deletion,p.Glu12del,ENST00000513906,;SPAG9,inframe_deletion,p.Glu739del,ENST00000357122,;SPAG9,inframe_deletion,p.Glu743del,ENST00000505279,;SPAG9,inframe_deletion,p.Glu753del,ENST00000262013,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000506483,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,downstream_gene_variant,,ENST00000513827,;SPAG9,upstream_gene_variant,,ENST00000513746,;SPAG9,downstream_gene_variant,,ENST00000515685,;SPAG9,upstream_gene_variant,,ENST00000514205,;	2466-2468	113	103	SUCCESS
TOM1L1	10040	.	GRCh37	17	53026983	53026983	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	99	2	ENST00000575882.1:c.1287A>G		p.X429_splice	ENST00000575882	NM_005486.2	429	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11582.1	1287	RADIA|VARSCANS	.	CATCCAGGTAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,PIRSF_domain:PIRSF036948	.	.	ENSP00000460823	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000575882	Transcript	.	.	ENSG00000141198	11983	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM1L1_HUMAN	TOM1L1	HGNC	I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN	.	UPI000003E7E0	SNV	TOM1L1,synonymous_variant,p.%3D,ENST00000574318,;TOM1L1,synonymous_variant,p.%3D,ENST00000445275,;TOM1L1,synonymous_variant,p.%3D,ENST00000540336,;TOM1L1,synonymous_variant,p.%3D,ENST00000536554,;TOM1L1,synonymous_variant,p.%3D,ENST00000572158,;TOM1L1,synonymous_variant,p.%3D,ENST00000348161,;TOM1L1,synonymous_variant,p.%3D,ENST00000575882,;COX11,downstream_gene_variant,,ENST00000573912,;TOM1L1,splice_region_variant,,ENST00000574653,;TOM1L1,splice_region_variant,,ENST00000571319,;COX11,downstream_gene_variant,,ENST00000574821,;COX11,downstream_gene_variant,,ENST00000572088,;COX11,downstream_gene_variant,,ENST00000576370,;COX11,downstream_gene_variant,,ENST00000572558,;COX11,downstream_gene_variant,,ENST00000576084,;TOM1L1,downstream_gene_variant,,ENST00000572905,;TOM1L1,downstream_gene_variant,,ENST00000576932,;	1640	101	100	SUCCESS
ANKFN1	162282	.	GRCh37	17	54543932	54543932	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	10	85	0	ENST00000318698.2:c.1782G>T	p.Gln594His	p.Q594H	ENST00000318698	NM_153228.2	594	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS32686.1	1782	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGGTATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	14/17	.	.	.	.	.	.	.	.	.	14/17	PASS	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.804)	.	tolerated(0.19)	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,missense_variant,p.Gln594His,ENST00000318698,;ANKFN1,missense_variant,p.Gln594His,ENST00000566473,;ANKFN1,downstream_gene_variant,,ENST00000572321,;	1817	85	96	SUCCESS
BZRAP1	0	.	GRCh37	17	56385233	56385233	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	15	84	0	ENST00000343736.4:c.4801C>T	p.Arg1601Ter	p.R1601*	ENST00000343736		1601	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS11605.1	4801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGGACAC	NONE	.	.	hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234	.	.	ENSP00000345824	.	23/32	.	.	.	.	.	.	.	.	.	23/32	PASS	ENST00000343736	Transcript	.	.	ENSG00000005379	16831	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMB1_HUMAN	BZRAP1	HGNC	.	.	UPI000013D7E3	SNV	BZRAP1,stop_gained,p.Arg1601Ter,ENST00000343736,;BZRAP1,stop_gained,p.Arg165Ter,ENST00000582679,;BZRAP1,stop_gained,p.Arg32Ter,ENST00000580669,;BZRAP1,stop_gained,p.Arg1601Ter,ENST00000355701,;BZRAP1,stop_gained,p.Arg1541Ter,ENST00000268893,;BZRAP1,upstream_gene_variant,,ENST00000581675,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000578486,;BZRAP1,upstream_gene_variant,,ENST00000577871,;BZRAP1,upstream_gene_variant,,ENST00000578511,;BZRAP1,upstream_gene_variant,,ENST00000581692,;BZRAP1,downstream_gene_variant,,ENST00000585149,;	4965	84	70	SUCCESS
MTMR4	9110	.	GRCh37	17	56584581	56584581	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	24	90	0	ENST00000323456.5:c.765T>G	p.Ile255Met	p.I255M	ENST00000323456	NM_004687.4	255	atT/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS11608.1	765	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCAATGGA	NONE	.	.	PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799	.	.	ENSP00000325285	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000323456	Transcript	.	.	ENSG00000108389	7452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	MTMR4_HUMAN	MTMR4	HGNC	J3QRJ2_HUMAN	.	UPI00002010DE	SNV	MTMR4,missense_variant,p.Ile255Met,ENST00000323456,;MTMR4,missense_variant,p.Ile255Met,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583243,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000579921,;MTMR4,downstream_gene_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000582390,;MTMR4,downstream_gene_variant,,ENST00000583966,;MTMR4,downstream_gene_variant,,ENST00000580983,;	890	90	84	SUCCESS
CSHL1	1444	.	GRCh37	17	61987355	61987355	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	86	0	ENST00000309894.5:c.472-87A>T		p.*158*	ENST00000309894	NM_022579.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11652.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTTCAGGG	NONE	.	.	.	.	.	ENSP00000309524	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309894	Transcript	.	.	ENSG00000204414	2442	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSHL_HUMAN	CSHL1	HGNC	I6L999_HUMAN	.	UPI00001602B9	SNV	CSHL1,missense_variant,p.Glu130Val,ENST00000561003,;CSHL1,missense_variant,p.Glu119Val,ENST00000450719,;CSHL1,3_prime_UTR_variant,,ENST00000392824,;CSHL1,intron_variant,,ENST00000259003,;CSHL1,intron_variant,,ENST00000309894,;CSHL1,intron_variant,,ENST00000346606,;CSHL1,intron_variant,,ENST00000438387,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,intron_variant,,ENST00000558609,;	.	86	86	SUCCESS
TEX2	55852	.	GRCh37	17	62272409	62272409	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1360731326	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	90	0	ENST00000583097.1:c.1691C>T	p.Ala564Val	p.A564V	ENST00000583097		564	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11658.1	1691	MUTECT|MUSE|VARSCANS	.	AAGTCGCATGG	NONE	.	.	hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2	.	.	ENSP00000258991	.	3/12	.	.	.	.	.	.	.	.	COSM982884	3/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.335)	.	deleterious(0.04)	1	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Ala564Val,ENST00000584379,;TEX2,missense_variant,p.Ala564Val,ENST00000258991,;TEX2,missense_variant,p.Ala564Val,ENST00000583097,;TEX2,missense_variant,p.Ala65Val,ENST00000583501,;	1776	90	78	SUCCESS
BPTF	2186	.	GRCh37	17	65924473	65924473	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	23	205	0	ENST00000321892.4:c.6132A>G		p.X2044_splice	ENST00000321892		2044	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS11673.1	5754	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAACGACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	.	.	ENSP00000307208	.	16/28	.	.	.	.	.	.	.	.	.	16/28	PASS	ENST00000306378	Transcript	.	.	ENSG00000171634	3581	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BPTF_HUMAN	BPTF	HGNC	.	.	UPI00002263BF	SNV	BPTF,synonymous_variant,p.%3D,ENST00000306378,;BPTF,synonymous_variant,p.%3D,ENST00000321892,;BPTF,synonymous_variant,p.%3D,ENST00000544778,;BPTF,synonymous_variant,p.%3D,ENST00000335221,;BPTF,synonymous_variant,p.%3D,ENST00000582467,;BPTF,synonymous_variant,p.%3D,ENST00000424123,;	5814	205	200	SUCCESS
ABCA9	10350	.	GRCh37	17	67029868	67029868	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs146940647	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	38	266	0	ENST00000340001.4:c.1275C>T		p.X425_splice	ENST00000340001	NM_080283.3	425	ccC/ccT	0	A:0.0005	.	.	.	.	A	P	protein_coding	YES	CCDS11681.1	1275	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGGGCAA	NONE	byCluster	.	hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	.	A:0	ENSP00000342216	.	9/39	.	.	.	.	.	.	.	.	rs146940647	9/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,synonymous_variant,p.%3D,ENST00000370732,;ABCA9,synonymous_variant,p.%3D,ENST00000453985,;ABCA9,synonymous_variant,p.%3D,ENST00000340001,;ABCA9,non_coding_transcript_exon_variant,,ENST00000461623,;	1487	266	243	SUCCESS
GRIN2C	2905	.	GRCh37	17	72845978	72845978	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs769299994	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	73	0	ENST00000293190.5:c.1586C>T	p.Thr529Met	p.T529M	ENST00000293190	NM_000835.4	529	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS32724.1	1586	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGTCTCC	NONE	byFrequency	.	hmmpanther:PTHR18966:SF179,hmmpanther:PTHR18966,Gene3D:3.40.190.10,Pfam_domain:PF00497,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000293190	.	7/13	.	.	.	.	.	.	.	.	rs769299994,COSM3403197,COSM3403196	7/13	PASS	ENST00000293190	Transcript	.	.	ENSG00000161509	4587	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.998)	.	deleterious(0)	0,1,1	NMDE3_HUMAN	GRIN2C	HGNC	.	.	UPI00001AEBA4	SNV	GRIN2C,missense_variant,p.Thr529Met,ENST00000347612,;GRIN2C,missense_variant,p.Thr529Met,ENST00000293190,;GRIN2C,downstream_gene_variant,,ENST00000578159,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;GRIN2C,downstream_gene_variant,,ENST00000584496,;	1733	73	79	SUCCESS
TNK1	8711	.	GRCh37	17	7287873	7287873	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	56	1	ENST00000576812.1:c.937C>T	p.Leu313=	p.L313=	ENST00000576812	NM_001251902.1	313	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58510.1	937	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACGCTGTGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF187,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000459799	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000576812	Transcript	.	.	ENSG00000174292	11940	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNK1_HUMAN	TNK1	HGNC	.	.	UPI000013F1D0	SNV	TNK1,synonymous_variant,p.%3D,ENST00000576812,;TNK1,synonymous_variant,p.%3D,ENST00000311668,;TNK1,synonymous_variant,p.%3D,ENST00000570896,;TNK1,upstream_gene_variant,,ENST00000576716,;TNK1,3_prime_UTR_variant,,ENST00000577009,;TNK1,non_coding_transcript_exon_variant,,ENST00000576136,;TNK1,downstream_gene_variant,,ENST00000574794,;TNK1,downstream_gene_variant,,ENST00000575268,;TNK1,downstream_gene_variant,,ENST00000576207,;	1306	57	62	SUCCESS
EVPL	2125	.	GRCh37	17	74005326	74005326	+	synonymous_variant	Silent	SNP	G	G	A	rs760754752	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	24	0	ENST00000301607.3:c.3960C>T	p.His1320=	p.H1320=	ENST00000301607	NM_001988.2	1320	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS11737.1	3960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGTGGCG	NONE	.	.	hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	22/22	.	.	.	.	.	.	.	.	rs760754752,COSM1493972	22/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,synonymous_variant,p.%3D,ENST00000586740,;EVPL,synonymous_variant,p.%3D,ENST00000301607,;EVPL,upstream_gene_variant,,ENST00000589231,;CDK3,downstream_gene_variant,,ENST00000448471,;CDK3,downstream_gene_variant,,ENST00000425876,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;EVPL,downstream_gene_variant,,ENST00000593037,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;	4214	24	18	SUCCESS
TP53	7157	.	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934578	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	51	131	2	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS11118.1	524	RADIA|SOMATICSNIPER|VARSCANS	pathogenic	GGCAGCGCCTC	SITE|p.R175H|c.524G>A|181,SITE|p.R43H|c.128G>A|183,SITE|p.R82H|c.245G>A|183,SITE|p.R175H|c.524G>A|124,SITE|p.R175H|c.524G>A|180,SITE|p.R175H|c.524G>A|926,SITE|p.R175H|c.524G>A|88,CODON|p.0?|c.1_1182del1182|6,CODON|p.R175L|c.524G>T|20,CODON|p.R175P|c.524G>C|6,CODON|p.R175L|c.524G>T|3,CODON|p.R175L|c.524G>T|3,CODON|p.R175L|c.524G>T|3,CODON|p.R43L|c.128G>T|3,CODON|p.R82L|c.245G>T|3,BUFFER|p.P177_C182delPHHERC|c.529_546del18|9,BUFFER|p.P177_C182delPHHERC|c.526_543del18|3,BUFFER|p.H179Y|c.534_535CC>TT|8,BUFFER|p.H179D|c.535C>G|12,BUFFER|p.H179Y|c.535C>T|4,BUFFER|p.H47Y|c.139C>T|15,BUFFER|p.H179Y|c.535C>T|5,BUFFER|p.H179Y|c.535C>T|88,BUFFER|p.H179N|c.535C>A|15,BUFFER|p.H179Y|c.535C>T|14,BUFFER|p.H179Y|c.535C>T|14,BUFFER|p.H86Y|c.256C>T|14,BUFFER|p.H178Q|c.534C>A|5,BUFFER|p.H178fs*69|c.532delC|10,BUFFER|p.H178P|c.533A>C|7,BUFFER|p.H178D|c.532C>G|5,BUFFER|p.H178N|c.532C>A|3,BUFFER|p.H178Y|c.532C>T|7,BUFFER|p.P177P|c.531C>T|7,BUFFER|p.P177R|c.530C>G|3,BUFFER|p.P177L|c.530C>T|20,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P177R|c.530C>G|18,BUFFER|p.P177R|c.530C>G|3,BUFFER|p.P84L|c.251C>T|4,BUFFER|p.P45L|c.134C>T|4,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P177L|c.530C>T|3,BUFFER|p.P45R|c.134C>G|3,BUFFER|p.P177L|c.530C>T|4,BUFFER|p.P84R|c.251C>G|3,BUFFER|p.H178fs*69|c.528delC|3,BUFFER|p.P177S|c.529C>T|10,BUFFER|p.C176*|c.528C>A|3,BUFFER|p.C44*|c.132C>A|3,BUFFER|p.C176*|c.528C>A|11,BUFFER|p.C176W|c.528C>G|12,BUFFER|p.C83*|c.249C>A|3,BUFFER|p.C176*|c.528C>A|3,BUFFER|p.C176fs*71|c.526delT|7,BUFFER|p.C176F|c.527G>T|33,BUFFER|p.C44Y|c.131G>A|20,BUFFER|p.C176F|c.527G>T|133,BUFFER|p.C176Y|c.527G>A|73,BUFFER|p.C176F|c.527G>T|11,BUFFER|p.C176Y|c.527G>A|19,BUFFER|p.C176F|c.527G>T|33,BUFFER|p.C83Y|c.248G>A|19,BUFFER|p.C176Y|c.527G>A|19,BUFFER|p.C176S|c.527G>C|9,BUFFER|p.C83F|c.248G>T|33,BUFFER|p.C176Y|c.527G>A|11,BUFFER|p.C176Y|c.527G>A|9,BUFFER|p.C44F|c.131G>T|34,BUFFER|p.C176F|c.527G>T|17,BUFFER|p.C83S|c.247T>A|3,BUFFER|p.C44R|c.130T>C|4,BUFFER|p.C83R|c.247T>C|4,BUFFER|p.C176G|c.526T>G|4,BUFFER|p.C176S|c.526T>A|3,BUFFER|p.C44G|c.130T>G|4,BUFFER|p.C44S|c.130T>A|3,BUFFER|p.C176S|c.526T>A|12,BUFFER|p.C176R|c.526T>C|4,BUFFER|p.C176S|c.526T>A|3,BUFFER|p.C83G|c.247T>G|4,BUFFER|p.C176G|c.526T>G|7,BUFFER|p.C176R|c.526T>C|4,BUFFER|p.C176G|c.526T>G|4,BUFFER|p.C176R|c.526T>C|13,BUFFER|p.C176fs*5|c.525_526insN|3,BUFFER|p.R175C|c.523C>T|18,BUFFER|p.R175S|c.523C>A|6,BUFFER|p.R82G|c.244C>G|5,BUFFER|p.R175C|c.523C>T|4,BUFFER|p.R43G|c.127C>G|8,BUFFER|p.R175G|c.523C>G|5,BUFFER|p.R43C|c.127C>T|4,BUFFER|p.R175G|c.523C>G|5,BUFFER|p.R82C|c.244C>T|4,BUFFER|p.R175G|c.523C>G|16,BUFFER|p.R175C|c.523C>T|4,BUFFER|p.R174K|c.521G>A|5,BUFFER|p.R174W|c.520A>T|11,BUFFER|p.V173V|c.519G>A|6,BUFFER|p.V173V|c.519G>T|3,BUFFER|p.V173A|c.518T>C|14,BUFFER|p.V173G|c.518T>G|8,BUFFER|p.V173E|c.518T>A|4,BUFFER|p.V41E|c.122T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V80E|c.239T>A|3,BUFFER|p.V173E|c.518T>A|3,BUFFER|p.V173fs*1|c.517delG|4,BUFFER|p.V41L|c.121G>T|9,BUFFER|p.V80L|c.238G>T|9,BUFFER|p.V173M|c.517G>A|10,BUFFER|p.V80L|c.238G>C|5,BUFFER|p.V41M|c.121G>A|11,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|11,BUFFER|p.V173L|c.517G>C|15,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173L|c.517G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V80M|c.238G>A|11,BUFFER|p.V173L|c.517G>T|52,BUFFER|p.V173L|c.517G>T|9,BUFFER|p.V173M|c.517G>A|50,BUFFER|p.V41L|c.121G>C|5,BUFFER|p.V173M|c.517G>A|4,BUFFER|p.V172D|c.515T>A|11,BUFFER|p.V172A|c.515T>C|4,BUFFER|p.V172G|c.515T>G|4,BUFFER|p.V172fs*2|c.514delG|3,BUFFER|p.V79F|c.235G>T|5,BUFFER|p.V172F|c.514G>T|16,BUFFER|p.V172F|c.514G>T|4,BUFFER|p.V40F|c.118G>T|6,BUFFER|p.V172F|c.514G>T|5,BUFFER|p.V172F|c.514G>T|5,BUFFER|p.V172I|c.514G>A|8,BUFFER|p.V172F|c.514G>T|4	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	5/11	.	.	.	.	.	.	.	.	CM951224,rs28934578,CM062017,TP53_g.12512G>T,TP53_g.12512G>C,TP53_g.12512G>A,COSM10718,COSM10648,COSM45416,COSM99914,COSM1679508,COSM99022,COSM1679510,COSM99023,COSM1679512,COSM3355994,COSM1640851,COSM1679509,COSM99024,COSM1679511	5/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25105660,21264207,24929325,25404506	benign(0.308)	.	tolerated(0.11)	0,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg175His,ENST00000420246,;TP53,missense_variant,p.Arg175His,ENST00000269305,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg175His,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	714	133	115	SUCCESS
DNAH17	8632	.	GRCh37	17	76535911	76535911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	179	109	288	0	ENST00000389840.5:c.2584T>C	p.Tyr862His	p.Y862H	ENST00000389840		862	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	.	2584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATAATCCT	NONE	.	.	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676	.	.	ENSP00000374490	.	18/81	.	.	.	.	.	.	.	.	.	18/81	PASS	ENST00000389840	Transcript	.	.	ENSG00000187775	2946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	.	.	DYH17_HUMAN	DNAH17	HGNC	.	.	UPI0001A5EE11	SNV	DNAH17,missense_variant,p.Tyr862His,ENST00000585328,;DNAH17,missense_variant,p.Tyr862His,ENST00000389840,;DNAH17,downstream_gene_variant,,ENST00000589793,;	2709	288	289	SUCCESS
CBX8	57332	.	GRCh37	17	77769341	77769341	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	33	0	ENST00000269385.4:c.263A>G	p.Lys88Arg	p.K88R	ENST00000269385	NM_020649.2	88	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS11765.1	263	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCTTTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22812:SF81,hmmpanther:PTHR22812	.	.	ENSP00000269385	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269385	Transcript	.	.	ENSG00000141570	15962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.899)	.	tolerated(0.17)	.	CBX8_HUMAN	CBX8	HGNC	C9JM54_HUMAN	.	UPI000013D82A	SNV	CBX8,missense_variant,p.Lys63Arg,ENST00000427800,;CBX8,missense_variant,p.Lys88Arg,ENST00000269385,;CBX8,missense_variant,p.Lys78Arg,ENST00000413392,;CBX8,non_coding_transcript_exon_variant,,ENST00000485449,;	381	33	32	SUCCESS
CHD3	1107	.	GRCh37	17	7798461	7798461	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	98	0	ENST00000330494.7:c.1496G>A	p.Arg499Gln	p.R499Q	ENST00000330494	NM_001005273.2	499	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS32553.2	1673	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGATGCA	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF544,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF54160	.	.	ENSP00000369716	.	9/40	.	.	.	.	.	.	.	.	.	9/40	PASS	ENST00000380358	Transcript	.	.	ENSG00000170004	1918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.553)	.	.	.	CHD3_HUMAN	CHD3	HGNC	Q2TAZ1_HUMAN	.	UPI00004DDA7C	SNV	CHD3,missense_variant,p.Arg558Gln,ENST00000380358,;CHD3,missense_variant,p.Arg499Gln,ENST00000358181,;CHD3,missense_variant,p.Arg499Gln,ENST00000330494,;CHD3,missense_variant,p.Arg370Gln,ENST00000452447,;CHD3,downstream_gene_variant,,ENST00000571249,;CHD3,downstream_gene_variant,,ENST00000574022,;CHD3,downstream_gene_variant,,ENST00000570758,;CHD3,non_coding_transcript_exon_variant,,ENST00000479080,;CHD3,downstream_gene_variant,,ENST00000572579,;	1674	98	72	SUCCESS
KCNAB3	9196	.	GRCh37	17	7832645	7832645	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1300908380	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	7	113	0	ENST00000303790.2:c.109G>A	p.Gly37Ser	p.G37S	ENST00000303790	NM_004732.3	37	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS11124.1	109	MUTECT|MUSE	.	CCCGCCGGCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000302719	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000303790	Transcript	.	.	ENSG00000170049	6230	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.45)	.	KCAB3_HUMAN	KCNAB3	HGNC	.	.	UPI000013E8ED	SNV	KCNAB3,missense_variant,p.Gly37Ser,ENST00000303790,;CNTROB,upstream_gene_variant,,ENST00000570784,;CNTROB,upstream_gene_variant,,ENST00000565740,;CNTROB,upstream_gene_variant,,ENST00000570782,;CNTROB,upstream_gene_variant,,ENST00000380255,;CNTROB,upstream_gene_variant,,ENST00000380262,;CNTROB,upstream_gene_variant,,ENST00000575408,;CNTROB,upstream_gene_variant,,ENST00000563694,;TRAPPC1,downstream_gene_variant,,ENST00000572656,;TRAPPC1,downstream_gene_variant,,ENST00000540486,;TRAPPC1,downstream_gene_variant,,ENST00000303731,;TRAPPC1,downstream_gene_variant,,ENST00000571947,;CNTROB,upstream_gene_variant,,ENST00000576538,;KCNAB3,missense_variant,p.Gly37Ser,ENST00000570852,;KCNAB3,intron_variant,,ENST00000570587,;RP11-1099M24.7,intron_variant,,ENST00000573621,;CNTROB,upstream_gene_variant,,ENST00000571540,;TRAPPC1,downstream_gene_variant,,ENST00000575639,;TRAPPC1,downstream_gene_variant,,ENST00000573989,;TRAPPC1,downstream_gene_variant,,ENST00000571739,;KCNAB3,upstream_gene_variant,,ENST00000574006,;KCNAB3,upstream_gene_variant,,ENST00000576981,;	109	113	106	SUCCESS
AATK	9625	.	GRCh37	17	79096552	79096552	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	31	71	0	ENST00000326724.4:c.1184T>C	p.Leu395Pro	p.L395P	ENST00000326724	NM_001080395.2	395	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS45807.1	1184	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACAGCAGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417	.	.	ENSP00000324196	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,missense_variant,p.Leu395Pro,ENST00000326724,;AATK,missense_variant,p.Leu292Pro,ENST00000417379,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR338,upstream_gene_variant,,ENST00000390137,;AATK,intron_variant,,ENST00000573441,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,missense_variant,p.Leu395Pro,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;AATK,downstream_gene_variant,,ENST00000576053,;	1209	71	74	SUCCESS
P4HB	5034	.	GRCh37	17	79818364	79818364	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	42	0	ENST00000331483.4:c.-17C>T		p.*6*	ENST00000331483	NM_000918.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11787.1	.	MUTECT|MUSE	.	ATCAGGCGGGG	NONE	.	.	.	.	.	ENSP00000327801	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000331483	Transcript	.	.	ENSG00000185624	8548	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDIA1_HUMAN	P4HB	HGNC	B3KTQ9_HUMAN	.	UPI0000000CAA	SNV	P4HB,5_prime_UTR_variant,,ENST00000573778,;P4HB,5_prime_UTR_variant,,ENST00000576380,;P4HB,5_prime_UTR_variant,,ENST00000576390,;P4HB,5_prime_UTR_variant,,ENST00000331483,;P4HB,5_prime_UTR_variant,,ENST00000576052,;P4HB,5_prime_UTR_variant,,ENST00000571617,;P4HB,5_prime_UTR_variant,,ENST00000574914,;P4HB,5_prime_UTR_variant,,ENST00000439918,;P4HB,upstream_gene_variant,,ENST00000576541,;P4HB,upstream_gene_variant,,ENST00000570907,;P4HB,upstream_gene_variant,,ENST00000472244,;P4HB,upstream_gene_variant,,ENST00000467086,;P4HB,upstream_gene_variant,,ENST00000471535,;P4HB,5_prime_UTR_variant,,ENST00000575069,;P4HB,non_coding_transcript_exon_variant,,ENST00000466567,;P4HB,upstream_gene_variant,,ENST00000477607,;P4HB,upstream_gene_variant,,ENST00000574007,;	207	42	36	SUCCESS
ABR	29	.	GRCh37	17	909329	909329	+	synonymous_variant	Silent	SNP	G	G	A	rs375629677	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	61	0	ENST00000302538.5:c.2571C>T	p.Thr857=	p.T857=	ENST00000302538	NM_021962.3	857	acC/acT	0	A:0	.	.	.	.	A	T	protein_coding	YES	CCDS10999.1	2571	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCGGTGGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182	.	A:0.0001	ENSP00000303909	.	23/23	.	.	.	.	.	.	.	.	rs375629677	23/23	PASS	ENST00000302538	Transcript	.	.	ENSG00000159842	81	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABR_HUMAN	ABR	HGNC	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN	.	UPI00001AED3D	SNV	ABR,missense_variant,p.Pro166Leu,ENST00000571797,;ABR,synonymous_variant,p.%3D,ENST00000291107,;ABR,synonymous_variant,p.%3D,ENST00000574437,;ABR,synonymous_variant,p.%3D,ENST00000543210,;ABR,synonymous_variant,p.%3D,ENST00000544583,;ABR,synonymous_variant,p.%3D,ENST00000536794,;ABR,synonymous_variant,p.%3D,ENST00000302538,;ABR,intron_variant,,ENST00000572441,;ABR,downstream_gene_variant,,ENST00000573559,;TIMM22,downstream_gene_variant,,ENST00000327158,;ABR,downstream_gene_variant,,ENST00000571383,;ABR,downstream_gene_variant,,ENST00000571120,;ABR,downstream_gene_variant,,ENST00000571022,;ABR,non_coding_transcript_exon_variant,,ENST00000572585,;ABR,downstream_gene_variant,,ENST00000570688,;ABR,downstream_gene_variant,,ENST00000572650,;ABR,downstream_gene_variant,,ENST00000572152,;	2718	61	52	SUCCESS
CABLES1	91768	.	GRCh37	18	20716234	20716234	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	26	0	ENST00000256925.7:c.508C>A	p.Leu170Met	p.L170M	ENST00000256925	NM_001100619.2	170	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS42417.1	508	MUTECT|MUSE	.	GTCCCCTGGGC	NONE	.	.	hmmpanther:PTHR22896,hmmpanther:PTHR22896:SF1,PIRSF_domain:PIRSF025798	.	.	ENSP00000256925	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000256925	Transcript	.	.	ENSG00000134508	25097	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.154)	.	deleterious_low_confidence(0.01)	.	CABL1_HUMAN	CABLES1	HGNC	A7K6Y5_HUMAN	.	UPI00004C2CAA	SNV	CABLES1,missense_variant,p.Leu170Met,ENST00000256925,;CABLES1,intron_variant,,ENST00000400473,;CABLES1,intron_variant,,ENST00000580153,;CABLES1,upstream_gene_variant,,ENST00000582882,;AC105247.1,downstream_gene_variant,,ENST00000411067,;CABLES1,upstream_gene_variant,,ENST00000583220,;CABLES1,upstream_gene_variant,,ENST00000580644,;CABLES1,intron_variant,,ENST00000579963,;CABLES1,upstream_gene_variant,,ENST00000578052,;	508	26	31	SUCCESS
NDC80	10403	.	GRCh37	18	2599168	2599169	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TA	TA	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	61	14	57	0	ENST00000261597.4:c.1373_1374del	p.Tyr458CysfsTer4	p.Y458Cfs*4	ENST00000261597	NM_006101.2	458	TAt/t	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS11827.1	1372-1373	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAGTTTATGTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10643:SF2,hmmpanther:PTHR10643	.	.	ENSP00000261597	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000261597	Transcript	.	.	ENSG00000080986	16909	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDC80_HUMAN	NDC80	HGNC	A8K031_HUMAN	.	UPI0000073C92	deletion	NDC80,frameshift_variant,p.Tyr458CysfsTer4,ENST00000261597,;KATNBL1P3,upstream_gene_variant,,ENST00000443475,;	1554-1555	57	75	SUCCESS
GAREM	0	.	GRCh37	18	29850320	29850320	+	synonymous_variant	Silent	SNP	G	G	A	rs368693154	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	21	126	0	ENST00000269209.6:c.1593C>T	p.Asn531=	p.N531=	ENST00000269209		531	aaC/aaT	0	A:0.0002	A:0.0008	.	A:0	.	A	N	protein_coding	YES	CCDS56057.1	1593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGTTCAG	NONE	byCluster|by1000G	.	hmmpanther:PTHR14454:SF6,hmmpanther:PTHR14454	A:0	A:0	ENSP00000269209	A:0	5/6	.	.	.	.	.	.	.	.	rs368693154	5/6	PASS	ENST00000269209	Transcript	.	A:0.0002	ENSG00000141441	26136	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GAREM_HUMAN	GAREM	HGNC	.	.	UPI00005A72DA	SNV	GAREM,synonymous_variant,p.%3D,ENST00000399218,;GAREM,synonymous_variant,p.%3D,ENST00000269209,;GAREM,intron_variant,,ENST00000583696,;	1597	126	100	SUCCESS
ZBTB7C	201501	.	GRCh37	18	45566490	45566490	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	43	0	ENST00000535628.2:c.989A>C	p.Asp330Ala	p.D330A	ENST00000535628	NM_001039360.2	330	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS32830.1	989	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTAGTCGTTC	NONE	.	.	hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389	.	.	ENSP00000468782	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000588982	Transcript	.	.	ENSG00000184828	31700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ZBT7C_HUMAN	ZBTB7C	HGNC	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN	.	UPI0000073FE3	SNV	ZBTB7C,missense_variant,p.Asp330Ala,ENST00000590800,;ZBTB7C,missense_variant,p.Asp330Ala,ENST00000535628,;ZBTB7C,missense_variant,p.Asp330Ala,ENST00000586438,;ZBTB7C,missense_variant,p.Asp330Ala,ENST00000332053,;ZBTB7C,missense_variant,p.Asp330Ala,ENST00000588982,;ZBTB7C,downstream_gene_variant,,ENST00000590437,;ZBTB7C,downstream_gene_variant,,ENST00000590855,;ZBTB7C,downstream_gene_variant,,ENST00000591279,;ZBTB7C,downstream_gene_variant,,ENST00000590374,;ZBTB7C,downstream_gene_variant,,ENST00000591526,;ZBTB7C,downstream_gene_variant,,ENST00000586047,;ZBTB7C,downstream_gene_variant,,ENST00000592656,;ZBTB7C,downstream_gene_variant,,ENST00000593159,;ZBTB7C,downstream_gene_variant,,ENST00000589619,;ZBTB7C,downstream_gene_variant,,ENST00000589170,;ZBTB7C,downstream_gene_variant,,ENST00000591405,;ZBTB7C,downstream_gene_variant,,ENST00000588053,;ZBTB7C,downstream_gene_variant,,ENST00000589077,;ZBTB7C,downstream_gene_variant,,ENST00000588970,;ZBTB7C,downstream_gene_variant,,ENST00000588566,;ZBTB7C,downstream_gene_variant,,ENST00000585404,;ZBTB7C,downstream_gene_variant,,ENST00000588149,;ZBTB7C,downstream_gene_variant,,ENST00000587107,;ZBTB7C,downstream_gene_variant,,ENST00000592387,;ZBTB7C,downstream_gene_variant,,ENST00000589194,;ZBTB7C,downstream_gene_variant,,ENST00000586743,;ZBTB7C,downstream_gene_variant,,ENST00000590178,;ZBTB7C,downstream_gene_variant,,ENST00000588028,;ZBTB7C,downstream_gene_variant,,ENST00000586525,;	1491	43	56	SUCCESS
CXXC1	30827	.	GRCh37	18	47810278	47810278	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754927781	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	50	0	ENST00000285106.6:c.1399C>T	p.Arg467Cys	p.R467C	ENST00000285106	NM_001101654.1	467	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45866.1	1411	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCGCACAG	NONE	.	.	hmmpanther:PTHR12321:SF33,hmmpanther:PTHR12321,Pfam_domain:PF12269	.	.	ENSP00000390475	.	10/15	.	.	.	.	.	.	.	.	rs754927781	10/15	PASS	ENST00000412036	Transcript	.	.	ENSG00000154832	24343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	.	tolerated(0.26)	.	CXXC1_HUMAN	CXXC1	HGNC	K7EJR0_HUMAN	.	UPI0000169F65	SNV	CXXC1,missense_variant,p.Arg467Cys,ENST00000285106,;CXXC1,missense_variant,p.Arg467Cys,ENST00000589940,;CXXC1,missense_variant,p.Arg471Cys,ENST00000412036,;MBD1,upstream_gene_variant,,ENST00000585595,;MBD1,upstream_gene_variant,,ENST00000590208,;CXXC1,downstream_gene_variant,,ENST00000586837,;CXXC1,downstream_gene_variant,,ENST00000589548,;MBD1,upstream_gene_variant,,ENST00000398493,;MBD1,upstream_gene_variant,,ENST00000436910,;MBD1,upstream_gene_variant,,ENST00000353909,;MBD1,upstream_gene_variant,,ENST00000349085,;CXXC1,downstream_gene_variant,,ENST00000591474,;MBD1,upstream_gene_variant,,ENST00000398488,;MBD1,upstream_gene_variant,,ENST00000587605,;MBD1,upstream_gene_variant,,ENST00000588937,;MBD1,upstream_gene_variant,,ENST00000269471,;MBD1,upstream_gene_variant,,ENST00000347968,;MBD1,upstream_gene_variant,,ENST00000269468,;MBD1,upstream_gene_variant,,ENST00000398495,;MBD1,upstream_gene_variant,,ENST00000591535,;MBD1,upstream_gene_variant,,ENST00000339998,;MBD1,upstream_gene_variant,,ENST00000585672,;MBD1,upstream_gene_variant,,ENST00000457839,;MBD1,upstream_gene_variant,,ENST00000382948,;MBD1,upstream_gene_variant,,ENST00000591416,;MBD1,upstream_gene_variant,,ENST00000424334,;CXXC1,downstream_gene_variant,,ENST00000587396,;CXXC1,non_coding_transcript_exon_variant,,ENST00000586568,;CXXC1,non_coding_transcript_exon_variant,,ENST00000590901,;CXXC1,non_coding_transcript_exon_variant,,ENST00000590234,;CXXC1,downstream_gene_variant,,ENST00000586365,;MBD1,upstream_gene_variant,,ENST00000589758,;CXXC1,downstream_gene_variant,,ENST00000591190,;CXXC1,upstream_gene_variant,,ENST00000587170,;CXXC1,upstream_gene_variant,,ENST00000586502,;CXXC1,upstream_gene_variant,,ENST00000586144,;CXXC1,upstream_gene_variant,,ENST00000587342,;MBD1,upstream_gene_variant,,ENST00000586118,;MBD1,upstream_gene_variant,,ENST00000589867,;CXXC1,downstream_gene_variant,,ENST00000592078,;MBD1,upstream_gene_variant,,ENST00000590215,;	1458	50	51	SUCCESS
ALPK2	115701	.	GRCh37	18	56202553	56202554	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	8	48	0	ENST00000361673.3:c.4865dup	p.Leu1622PhefsTer10	p.L1622Ffs*10	ENST00000361673	NM_052947.3	1622	ttg/ttTg	0	.	.	.	.	.	A	L/FX	protein_coding	YES	CCDS11966.2	4865-4866	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTATCAAAAA	NONE	.	.	hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	.	.	ENSP00000354991	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000361673	Transcript	.	.	ENSG00000198796	20565	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALPK2_HUMAN	ALPK2	HGNC	.	.	UPI000022A768	insertion	ALPK2,frameshift_variant,p.Leu1622PhefsTer10,ENST00000361673,;RP11-1151B14.4,upstream_gene_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	5079-5080	48	57	SUCCESS
SERPINB13	5275	.	GRCh37	18	61254648	61254648	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	36	165	1	ENST00000344731.5:c.-54C>T		p.*18*	ENST00000344731	NM_012397.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11985.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTCGTTGC	NONE	.	.	.	.	.	ENSP00000341584	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000344731	Transcript	.	.	ENSG00000197641	8944	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPB13_HUMAN	SERPINB13	HGNC	.	.	UPI000004EE29	SNV	SERPINB13,missense_variant,p.Arg13Cys,ENST00000431153,;SERPINB13,5_prime_UTR_variant,,ENST00000344731,;SERPINB13,5_prime_UTR_variant,,ENST00000269489,;SERPINB13,upstream_gene_variant,,ENST00000415733,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;SERPINB13,upstream_gene_variant,,ENST00000438844,;	49	167	169	SUCCESS
RTTN	25914	.	GRCh37	18	67753861	67753861	+	synonymous_variant	Silent	SNP	A	A	G	rs1370541723	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	234	42	259	0	ENST00000255674.6:c.4362T>C	p.Asp1454=	p.D1454=	ENST00000255674	NM_173630.3	1454	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS42443.1	4362	RADIA|MUTECT|MUSE|VARSCANS	.	GTATAATCCTT	NONE	.	.	hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	.	.	ENSP00000255674	.	32/49	.	.	.	.	.	.	.	.	.	32/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,synonymous_variant,p.%3D,ENST00000255674,;RTTN,synonymous_variant,p.%3D,ENST00000437017,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,downstream_gene_variant,,ENST00000581709,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;	4649	259	276	SUCCESS
LAMA1	284217	.	GRCh37	18	6942222	6942222	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	39	0	ENST00000389658.3:c.9084del	p.Lys3028AsnfsTer13	p.K3028Nfs*13	ENST00000389658	NM_005559.3	3028	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS32787.1	9084	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGCATTTTTG	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000374309	.	63/63	.	.	.	.	.	.	.	.	.	63/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	deletion	LAMA1,frameshift_variant,p.Lys3028AsnfsTer13,ENST00000389658,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	9178	39	61	SUCCESS
ANKRD12	23253	.	GRCh37	18	9255558	9255559	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	121	49	94	0	ENST00000262126.4:c.2299dup	p.Ile767AsnfsTer15	p.I767Nfs*15	ENST00000262126	NM_015208.4	765	gaa/gAaa	0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS11843.1	2293-2294	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAGGAAAAA	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	insertion	ANKRD12,frameshift_variant,p.Ile767AsnfsTer15,ENST00000262126,;ANKRD12,frameshift_variant,p.Ile744AsnfsTer15,ENST00000383440,;ANKRD12,frameshift_variant,p.Ile744AsnfsTer15,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	2533-2534	94	170	SUCCESS
PPP4R1	9989	.	GRCh37	18	9584572	9584572	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs878870696	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	244	9	239	0	ENST00000400556.3:c.700G>A	p.Ala234Thr	p.A234T	ENST00000400556	NM_001042388.2	234	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42412.1	700	MUTECT|MUSE	.	GGCAGCACAGA	NONE	.	.	hmmpanther:PTHR10648:SF8,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000383402	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000400556	Transcript	.	.	ENSG00000154845	9320	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.933)	.	deleterious(0.02)	.	PP4R1_HUMAN	PPP4R1	HGNC	J3QLA6_HUMAN,J3QL26_HUMAN,J3KSB0_HUMAN,J3KRU1_HUMAN,B4DID3_HUMAN	.	UPI000006D6DE	SNV	PPP4R1,missense_variant,p.Ala217Thr,ENST00000400555,;PPP4R1,missense_variant,p.Ala234Thr,ENST00000400556,;PPP4R1,downstream_gene_variant,,ENST00000580745,;PPP4R1,downstream_gene_variant,,ENST00000584074,;PPP4R1,downstream_gene_variant,,ENST00000582240,;PPP4R1,downstream_gene_variant,,ENST00000581835,;PPP4R1,downstream_gene_variant,,ENST00000581250,;RP11-881L2.1,upstream_gene_variant,,ENST00000584109,;PPP4R1,non_coding_transcript_exon_variant,,ENST00000580583,;PPP4R1,downstream_gene_variant,,ENST00000583903,;PPP4R1,downstream_gene_variant,,ENST00000578178,;PPP4R1,downstream_gene_variant,,ENST00000582933,;PPP4R1,downstream_gene_variant,,ENST00000579638,;PPP4R1,downstream_gene_variant,,ENST00000579415,;PPP4R1,3_prime_UTR_variant,,ENST00000285124,;PPP4R1,downstream_gene_variant,,ENST00000583092,;PPP4R1,downstream_gene_variant,,ENST00000580182,;PPP4R1,downstream_gene_variant,,ENST00000578875,;	774	239	254	SUCCESS
C3P1	388503	.	GRCh37	19	10157440	10157440	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	14	89	0	ENST00000497718.1:n.2125G>T		p.*709*	ENST00000497718				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGGATGA	NONE	.	.	.	.	.	.	.	16/37	.	.	.	.	.	.	.	.	.	16/37	PASS	ENST00000497718	Transcript	.	.	ENSG00000167798	34414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C3P1	HGNC	.	.	.	SNV	C3P1,non_coding_transcript_exon_variant,,ENST00000495140,;C3P1,non_coding_transcript_exon_variant,,ENST00000497718,;	2125	89	84	SUCCESS
DOCK6	57572	.	GRCh37	19	11322519	11322519	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	81	0	ENST00000294618.7:c.4684C>T	p.Leu1562=	p.L1562=	ENST00000294618	NM_020812.3	1562	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS45975.1	4684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCAGGATCA	NONE	.	.	hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	.	.	ENSP00000294618	.	37/48	.	.	.	.	.	.	.	.	.	37/48	PASS	ENST00000294618	Transcript	1	.	ENSG00000130158	19189	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK6_HUMAN	DOCK6	HGNC	.	.	UPI000059D66F	SNV	DOCK6,synonymous_variant,p.%3D,ENST00000587656,;DOCK6,synonymous_variant,p.%3D,ENST00000294618,;DOCK6,synonymous_variant,p.%3D,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000588666,;CTC-510F12.2,intron_variant,,ENST00000588634,;DOCK6,upstream_gene_variant,,ENST00000592463,;DOCK6,downstream_gene_variant,,ENST00000588429,;DOCK6,downstream_gene_variant,,ENST00000592403,;	4696	81	65	SUCCESS
CCDC159	126075	.	GRCh37	19	11461628	11461628	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs568175380	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	41	137	1	ENST00000588790.1:c.371G>A	p.Arg124Gln	p.R124Q	ENST00000588790		124	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS45976.1	371	RADIA|MUTECT|VARSCANS	.	GCAGCGGGCCC	NONE	byCluster	.	.	.	.	ENSP00000468232	.	7/13	.	.	.	.	.	.	.	.	rs568175380	7/13	PASS	ENST00000588790	Transcript	.	.	ENSG00000183401	26996	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.025)	.	tolerated(0.32)	.	CC159_HUMAN	CCDC159	HGNC	K7ENC2_HUMAN,K7EKU9_HUMAN,K7EKC7_HUMAN	.	UPI00001611D5	SNV	CCDC159,missense_variant,p.Arg101Gln,ENST00000586451,;CCDC159,missense_variant,p.Arg124Gln,ENST00000458408,;CCDC159,missense_variant,p.Arg124Gln,ENST00000588790,;CCDC159,missense_variant,p.Arg101Gln,ENST00000588592,;CCDC159,missense_variant,p.Arg101Gln,ENST00000587531,;CCDC159,intron_variant,,ENST00000591260,;TMEM205,upstream_gene_variant,,ENST00000590482,;TMEM205,upstream_gene_variant,,ENST00000586956,;TMEM205,upstream_gene_variant,,ENST00000588560,;TMEM205,upstream_gene_variant,,ENST00000586218,;TMEM205,upstream_gene_variant,,ENST00000587948,;TMEM205,upstream_gene_variant,,ENST00000592952,;TMEM205,upstream_gene_variant,,ENST00000447337,;DKFZP761J1410,upstream_gene_variant,,ENST00000251473,;DKFZP761J1410,upstream_gene_variant,,ENST00000591329,;CCDC159,upstream_gene_variant,,ENST00000591691,;TMEM205,upstream_gene_variant,,ENST00000591677,;TMEM205,upstream_gene_variant,,ENST00000590788,;TMEM205,upstream_gene_variant,,ENST00000586590,;TMEM205,upstream_gene_variant,,ENST00000354882,;TMEM205,upstream_gene_variant,,ENST00000586701,;TMEM205,upstream_gene_variant,,ENST00000593256,;RAB3D,upstream_gene_variant,,ENST00000589655,;DKFZP761J1410,upstream_gene_variant,,ENST00000586380,;TMEM205,upstream_gene_variant,,ENST00000589555,;DKFZP761J1410,upstream_gene_variant,,ENST00000591608,;CCDC159,upstream_gene_variant,,ENST00000586479,;CCDC159,downstream_gene_variant,,ENST00000587100,;CCDC159,downstream_gene_variant,,ENST00000589186,;DKFZP761J1410,upstream_gene_variant,,ENST00000586431,;CCDC159,3_prime_UTR_variant,,ENST00000590636,;CCDC159,non_coding_transcript_exon_variant,,ENST00000589016,;CCDC159,non_coding_transcript_exon_variant,,ENST00000590054,;CCDC159,non_coding_transcript_exon_variant,,ENST00000588821,;CCDC159,non_coding_transcript_exon_variant,,ENST00000587868,;CCDC159,intron_variant,,ENST00000592723,;TMEM205,upstream_gene_variant,,ENST00000585722,;CCDC159,downstream_gene_variant,,ENST00000589477,;CCDC159,upstream_gene_variant,,ENST00000589022,;CCDC159,upstream_gene_variant,,ENST00000588464,;CCDC159,downstream_gene_variant,,ENST00000590919,;TMEM205,upstream_gene_variant,,ENST00000588321,;	818	138	138	SUCCESS
MIDN	90007	.	GRCh37	19	1254383	1254384	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	29	0	ENST00000300952.2:c.608dup	p.Val204GlyfsTer99	p.V204Gfs*99	ENST00000300952	NM_177401.4	201	gtc/gtCc	0	.	.	.	.	.	C	V/VX	protein_coding	YES	CCDS32864.1	602-603	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGAGTCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23010,hmmpanther:PTHR23010:SF0	.	.	ENSP00000300952	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000300952	Transcript	.	.	ENSG00000167470	16298	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MIDN_HUMAN	MIDN	HGNC	K7END3_HUMAN	.	UPI0000202EF1	insertion	MIDN,frameshift_variant,p.Val204GlyfsTer99,ENST00000591446,;MIDN,frameshift_variant,p.Val204GlyfsTer99,ENST00000300952,;MIDN,downstream_gene_variant,,ENST00000586843,;MIDN,downstream_gene_variant,,ENST00000586757,;MIDN,downstream_gene_variant,,ENST00000591302,;MIDN,downstream_gene_variant,,ENST00000590136,;	1117-1118	29	50	SUCCESS
RFX1	5989	.	GRCh37	19	14090352	14090352	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	67	0	ENST00000254325.4:c.741A>T	p.Arg247Ser	p.R247S	ENST00000254325	NM_002918.4	247	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS12301.1	741	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATCTCTG	NONE	.	.	Pfam_domain:PF04589	.	.	ENSP00000254325	.	7/21	.	.	.	.	.	.	.	.	.	7/21	PASS	ENST00000254325	Transcript	.	.	ENSG00000132005	9982	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.914)	.	deleterious(0.01)	.	RFX1_HUMAN	RFX1	HGNC	.	.	UPI000013CE29	SNV	RFX1,missense_variant,p.Arg247Ser,ENST00000254325,;RFX1,downstream_gene_variant,,ENST00000588885,;RFX1,splice_region_variant,,ENST00000589239,;RFX1,downstream_gene_variant,,ENST00000589760,;RFX1,downstream_gene_variant,,ENST00000589937,;	976	67	78	SUCCESS
GIPC1	10755	.	GRCh37	19	14593664	14593664	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	12	130	0	ENST00000345425.2:c.125del	p.Gly42AlafsTer56	p.G42Afs*56	ENST00000345425	NM_202470.2	42	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS12310.1	125	VARSCANI*|PINDEL	.	TGGGGGCCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12259,hmmpanther:PTHR12259:SF4,PIRSF_domain:PIRSF038083	.	.	ENSP00000376753	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000393033	Transcript	.	.	ENSG00000123159	1226	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GIPC1_HUMAN	GIPC1	HGNC	K7ESN1_HUMAN,K7ELJ2_HUMAN,K7EIT0_HUMAN	.	UPI000012B4BB	deletion	GIPC1,frameshift_variant,p.Gly42AlafsTer56,ENST00000393033,;GIPC1,frameshift_variant,p.Gly42AlafsTer56,ENST00000345425,;GIPC1,frameshift_variant,p.Gly42AlafsTer56,ENST00000586027,;GIPC1,intron_variant,,ENST00000591349,;GIPC1,intron_variant,,ENST00000587210,;GIPC1,intron_variant,,ENST00000393029,;GIPC1,intron_variant,,ENST00000393028,;GIPC1,downstream_gene_variant,,ENST00000591245,;GIPC1,upstream_gene_variant,,ENST00000587969,;GIPC1,upstream_gene_variant,,ENST00000589631,;GIPC1,downstream_gene_variant,,ENST00000587934,;GIPC1,non_coding_transcript_exon_variant,,ENST00000587811,;GIPC1,intron_variant,,ENST00000589497,;GIPC1,upstream_gene_variant,,ENST00000585606,;	395	130	143	SUCCESS
REEP6	92840	.	GRCh37	19	1495386	1495386	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	40	0	ENST00000233596.3:c.209C>T	p.Ser70Leu	p.S70L	ENST00000233596	NM_138393.1	70	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS12070.1	209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTCGTGAG	NONE	.	.	hmmpanther:PTHR12300:SF30,hmmpanther:PTHR12300,Pfam_domain:PF03134	.	.	ENSP00000233596	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000233596	Transcript	.	.	ENSG00000115255	30078	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	REEP6_HUMAN	REEP6	HGNC	.	.	UPI00000702E3	SNV	REEP6,missense_variant,p.Ser70Leu,ENST00000233596,;REEP6,missense_variant,p.Ser9Leu,ENST00000395479,;PCSK4,upstream_gene_variant,,ENST00000588671,;PCSK4,upstream_gene_variant,,ENST00000300954,;PCSK4,upstream_gene_variant,,ENST00000590057,;PCSK4,upstream_gene_variant,,ENST00000587784,;PCSK4,upstream_gene_variant,,ENST00000591687,;REEP6,splice_region_variant,,ENST00000591735,;PCSK4,upstream_gene_variant,,ENST00000586616,;PCSK4,upstream_gene_variant,,ENST00000588195,;REEP6,upstream_gene_variant,,ENST00000395484,;	313	40	48	SUCCESS
SYDE1	85360	.	GRCh37	19	15220714	15220714	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs1214190235	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	22	0	ENST00000342784.2:c.635del	p.Gly212AlafsTer129	p.G212Afs*129	ENST00000342784	NM_033025.4	210	gtG/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS12324.1	630	VARSCANI*|PINDEL	.	CAGCGTGGGGGG	NONE	.	.	hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178	.	.	ENSP00000341489	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000342784	Transcript	.	.	ENSG00000105137	25824	5	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYDE1_HUMAN	SYDE1	HGNC	.	.	UPI00001C092C	deletion	SYDE1,frameshift_variant,p.Gly145AlafsTer129,ENST00000600440,;SYDE1,frameshift_variant,p.Gly212AlafsTer129,ENST00000342784,;SYDE1,5_prime_UTR_variant,,ENST00000600252,;SYDE1,upstream_gene_variant,,ENST00000602203,;SYDE1,downstream_gene_variant,,ENST00000597977,;	661	22	26	SUCCESS
PGLS	25796	.	GRCh37	19	17628141	17628141	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	57	0	ENST00000252603.2:c.445del	p.Val149TrpfsTer38	p.V149Wfs*38	ENST00000252603	NM_012088.2	147	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS12361.1	441	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCCTGGGGGT	NONE	.	.	hmmpanther:PTHR11054,Pfam_domain:PF01182,TIGRFAM_domain:TIGR01198,Gene3D:3.40.50.1360,Superfamily_domains:SSF100950	.	.	ENSP00000252603	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000252603	Transcript	.	.	ENSG00000130313	8903	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	6PGL_HUMAN	PGLS	HGNC	.	.	UPI0000124F8A	deletion	PGLS,frameshift_variant,p.Val149TrpfsTer38,ENST00000252603,;PGLS,frameshift_variant,p.Val85TrpfsTer53,ENST00000595782,;PGLS,frameshift_variant,p.Val157TrpfsTer38,ENST00000600923,;CTD-3131K8.3,downstream_gene_variant,,ENST00000596192,;PGLS,3_prime_UTR_variant,,ENST00000594761,;PGLS,non_coding_transcript_exon_variant,,ENST00000598811,;PGLS,downstream_gene_variant,,ENST00000596799,;	485	57	73	SUCCESS
JAK3	3718	.	GRCh37	19	17942173	17942173	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200202992	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	60	1	ENST00000458235.1:c.2842C>T	p.Arg948Cys	p.R948C	ENST00000458235	NM_000215.3	948	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12366.1	2842	MUTECT|MUSE	.	GTCGCGGTGCA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000391676	.	21/24	.	.	.	.	.	.	.	.	rs200202992,COSM123817,COSM1579128	21/24	PASS	ENST00000458235	Transcript	1	.	ENSG00000105639	6193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	probably_damaging(1)	.	deleterious(0)	0,1,1	JAK3_HUMAN	JAK3	HGNC	Q9UMU1_HUMAN,Q6LD09_HUMAN	.	UPI0000071146	SNV	JAK3,missense_variant,p.Arg948Cys,ENST00000458235,;JAK3,missense_variant,p.Arg948Cys,ENST00000534444,;JAK3,missense_variant,p.Arg948Cys,ENST00000527670,;JAK3,intron_variant,,ENST00000527031,;	2942	61	49	SUCCESS
MAST3	23031	.	GRCh37	19	18218416	18218416	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368179436	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	6	64	0	ENST00000262811.6:c.59G>A	p.Arg20His	p.R20H	ENST00000262811	NM_015016.1	20	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS46014.1	59	RADIA|MUTECT|MUSE	.	GCCACGCCGAG	NONE	.	.	hmmpanther:PTHR24356:SF140,hmmpanther:PTHR24356	.	A:0.0001	ENSP00000262811	.	2/27	.	.	.	.	.	.	.	.	rs368179436	2/27	PASS	ENST00000262811	Transcript	.	.	ENSG00000099308	19036	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.313)	.	deleterious(0.02)	.	MAST3_HUMAN	MAST3	HGNC	.	.	UPI00001D8275	SNV	MAST3,missense_variant,p.Arg20His,ENST00000262811,;MAST3,upstream_gene_variant,,ENST00000608648,;	59	64	46	SUCCESS
AP3D1	8943	.	GRCh37	19	2138639	2138639	+	synonymous_variant	Silent	SNP	G	G	A	rs763643005	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	33	0	ENST00000345016.5:c.171C>T	p.Asn57=	p.N57=	ENST00000345016	NM_003938.6	57	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS58638.1	171	MUTECT|MUSE	.	ACCGCGTTCGC	NONE	byFrequency	.	hmmpanther:PTHR22781,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371	.	.	ENSP00000347416	.	2/32	.	.	.	.	.	.	.	.	rs763643005	2/32	PASS	ENST00000355272	Transcript	.	.	ENSG00000065000	568	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AP3D1_HUMAN	AP3D1	HGNC	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN	.	UPI0000202F99	SNV	AP3D1,synonymous_variant,p.%3D,ENST00000356926,;AP3D1,synonymous_variant,p.%3D,ENST00000350812,;AP3D1,synonymous_variant,p.%3D,ENST00000355272,;AP3D1,synonymous_variant,p.%3D,ENST00000345016,;AP3D1,non_coding_transcript_exon_variant,,ENST00000591284,;	378	33	31	SUCCESS
ZNF492	57615	.	GRCh37	19	22847747	22847747	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1157978654	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	18	198	0	ENST00000456783.2:c.1276T>C	p.Cys426Arg	p.C426R	ENST00000456783	NM_020855.2	426	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS46032.1	1276	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATGTGGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000413660	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0.01)	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,missense_variant,p.Cys426Arg,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	1520	198	182	SUCCESS
ZNF91	7644	.	GRCh37	19	23543832	23543832	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	24	148	0	ENST00000300619.7:c.1949G>A	p.Arg650Lys	p.R650K	ENST00000300619	NM_003430.2	650	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS42541.1	1949	RADIA|MUTECT|MUSE|VARSCANS	.	GAATTCTCTTA	CODON|p.R650I|c.1949G>T|3	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	COSM1589985,COSM183397	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	possibly_damaging(0.676)	.	tolerated(0.34)	1,1	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Arg618Lys,ENST00000397082,;ZNF91,missense_variant,p.Arg650Lys,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	2155	148	160	SUCCESS
PPAP2C	0	.	GRCh37	19	282794	282794	+	synonymous_variant	Silent	SNP	C	C	T	rs751500921	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	23	83	0	ENST00000434325.2:c.330G>A	p.Ser110=	p.S110=	ENST00000434325		110	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12024.1	561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCGAGTA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Gene3D:1.20.144.10,Pfam_domain:PF01569,SMART_domains:SM00014,Superfamily_domains:SSF48317	.	.	ENSP00000329697	.	4/6	.	.	.	.	.	.	.	.	rs751500921	4/6	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	SNV	PPAP2C,synonymous_variant,p.%3D,ENST00000327790,;PPAP2C,synonymous_variant,p.%3D,ENST00000269812,;PPAP2C,synonymous_variant,p.%3D,ENST00000586998,;PPAP2C,synonymous_variant,p.%3D,ENST00000434325,;PPAP2C,downstream_gene_variant,,ENST00000591572,;PPAP2C,downstream_gene_variant,,ENST00000589672,;VN2R11P,downstream_gene_variant,,ENST00000589981,;	665	83	107	SUCCESS
PPAP2C	0	.	GRCh37	19	291369	291373	+	5_prime_UTR_variant	5'UTR	DEL	CGTCC	CGTCC	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	CGTCC	CGTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	142	26	154	0	ENST00000434325.2:c.-164_-160del		p.*55*	ENST00000434325				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12024.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGCGCGTCCCGTCG	NONE	.	199	.	.	.	ENSP00000329697	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000327790	Transcript	.	.	ENSG00000141934	9230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPP2_HUMAN	PPAP2C	HGNC	.	.	UPI0000168654	deletion	PPAP2C,5_prime_UTR_variant,,ENST00000269812,;PPAP2C,5_prime_UTR_variant,,ENST00000434325,;PPAP2C,5_prime_UTR_variant,,ENST00000591572,;PPAP2C,upstream_gene_variant,,ENST00000327790,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,upstream_gene_variant,,ENST00000589672,;	.	154	168	SUCCESS
TLE2	7089	.	GRCh37	19	3006585	3006585	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	73	210	0	ENST00000262953.6:c.1333C>A	p.Pro445Thr	p.P445T	ENST00000262953	NM_003260.4	445	Ccg/Acg	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45911.1	1333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGGGATGC	NONE	.	.	hmmpanther:PTHR10814:SF4,hmmpanther:PTHR10814,Superfamily_domains:SSF50978	.	.	ENSP00000262953	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000262953	Transcript	.	.	ENSG00000065717	11838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.845)	.	deleterious(0)	.	TLE2_HUMAN	TLE2	HGNC	.	.	UPI0000137038	SNV	TLE2,missense_variant,p.Pro112Thr,ENST00000447365,;TLE2,missense_variant,p.Pro323Thr,ENST00000455444,;TLE2,missense_variant,p.Pro459Thr,ENST00000426948,;TLE2,missense_variant,p.Pro94Thr,ENST00000589364,;TLE2,missense_variant,p.Pro323Thr,ENST00000443826,;TLE2,missense_variant,p.Pro445Thr,ENST00000262953,;TLE2,missense_variant,p.Pro446Thr,ENST00000590536,;TLE2,missense_variant,p.Pro459Thr,ENST00000591529,;TLE2,intron_variant,,ENST00000586422,;TLE2,non_coding_transcript_exon_variant,,ENST00000586492,;TLE2,downstream_gene_variant,,ENST00000589205,;TLE2,downstream_gene_variant,,ENST00000587672,;	1596	210	201	SUCCESS
ZNF536	9745	.	GRCh37	19	30935510	30935510	+	synonymous_variant	Silent	SNP	C	C	T	rs1200857229	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	51	0	ENST00000355537.3:c.1041C>T	p.Cys347=	p.C347=	ENST00000355537	NM_014717.1	347	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS32984.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGCGAGGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000347730	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,synonymous_variant,p.%3D,ENST00000585628,;ZNF536,synonymous_variant,p.%3D,ENST00000355537,;ZNF536,downstream_gene_variant,,ENST00000591488,;	1188	51	60	SUCCESS
PEPD	5184	.	GRCh37	19	33984227	33984227	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs188930796	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	11	202	1	ENST00000244137.7:c.410C>T	p.Thr137Met	p.T137M	ENST00000244137	NM_000285.3	137	aCg/aTg	0	.	A:0	.	A:0	.	A	T/M	protein_coding	YES	CCDS42544.1	410	MUTECT|MUSE	.	GTGACGTCAGG	NONE	by1000G	.	hmmpanther:PTHR10804:SF17,hmmpanther:PTHR10804,Gene3D:3.40.350.10,Pfam_domain:PF05195,SMART_domains:SM01011,Superfamily_domains:SSF53092	A:0.001	.	ENSP00000244137	A:0	5/15	.	.	.	.	.	.	.	.	rs188930796	5/15	PASS	ENST00000244137	Transcript	1	A:0.0002	ENSG00000124299	8840	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.017)	A:0	tolerated(0.08)	.	PEPD_HUMAN	PEPD	HGNC	K7EQ51_HUMAN	.	UPI000006F8BF	SNV	PEPD,missense_variant,p.Thr137Met,ENST00000244137,;PEPD,missense_variant,p.Thr137Met,ENST00000397032,;PEPD,missense_variant,p.Thr73Met,ENST00000436370,;PEPD,5_prime_UTR_variant,,ENST00000609145,;PEPD,missense_variant,p.Thr6Met,ENST00000590755,;PEPD,3_prime_UTR_variant,,ENST00000590408,;PEPD,non_coding_transcript_exon_variant,,ENST00000593163,;	444	203	215	SUCCESS
PEPD	5184	.	GRCh37	19	34003533	34003533	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749796022	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	12	56	0	ENST00000244137.7:c.167G>A	p.Arg56His	p.R56H	ENST00000244137	NM_000285.3	56	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS42544.1	167	MUSE|VARSCANS	.	AGTAGCGCTGA	NONE	byFrequency	.	hmmpanther:PTHR10804:SF17,hmmpanther:PTHR10804,Gene3D:3.40.350.10,Pfam_domain:PF05195,SMART_domains:SM01011,Superfamily_domains:SSF53092	.	.	ENSP00000244137	.	2/15	.	.	.	.	.	.	.	.	rs749796022	2/15	PASS	ENST00000244137	Transcript	1	.	ENSG00000124299	8840	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.599)	.	tolerated(0.15)	.	PEPD_HUMAN	PEPD	HGNC	K7EQ51_HUMAN	.	UPI000006F8BF	SNV	PEPD,missense_variant,p.Arg56His,ENST00000244137,;PEPD,missense_variant,p.Arg56His,ENST00000397032,;PEPD,missense_variant,p.Arg56His,ENST00000436370,;PEPD,upstream_gene_variant,,ENST00000593163,;PEPD,upstream_gene_variant,,ENST00000590408,;	201	56	69	SUCCESS
LSM14A	26065	.	GRCh37	19	34685491	34685491	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	35	121	0	ENST00000433627.5:c.230T>A	p.Val77Asp	p.V77D	ENST00000433627	NM_001114093.1	77	gTt/gAt	0	.	.	.	.	.	A	V/D	protein_coding	YES	CCDS12435.1	230	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGTTTGTG	NONE	.	.	hmmpanther:PTHR13586,hmmpanther:PTHR13586:SF2,Pfam_domain:PF12701,Superfamily_domains:SSF50182	.	.	ENSP00000446271	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000544216	Transcript	.	.	ENSG00000257103	24489	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	LS14A_HUMAN	LSM14A	HGNC	.	.	UPI000006E20E	SNV	LSM14A,missense_variant,p.Val72Asp,ENST00000586157,;LSM14A,missense_variant,p.Val77Asp,ENST00000544216,;LSM14A,missense_variant,p.Val77Asp,ENST00000433627,;LSM14A,missense_variant,p.Val77Asp,ENST00000540746,;LSM14A,missense_variant,p.Val77Asp,ENST00000589878,;	307	121	116	SUCCESS
CACTIN	58509	.	GRCh37	19	3624120	3624120	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1295643587	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	26	0	ENST00000221899.3:c.4C>T	p.Arg2Ter	p.R2*	ENST00000221899		2	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS45920.1	208	MUTECT|MUSE	.	GCTTCGCATCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000415078	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000429344	Transcript	.	.	ENSG00000105298	29938	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CATIN_HUMAN	CACTIN	HGNC	K7EIU6_HUMAN	.	UPI00006C1962	SNV	CACTIN,stop_gained,p.Arg2Ter,ENST00000221899,;CACTIN,stop_gained,p.Arg70Ter,ENST00000248420,;CACTIN,stop_gained,p.Arg70Ter,ENST00000429344,;CACTIN,upstream_gene_variant,,ENST00000588749,;CACTIN,stop_gained,p.Arg70Ter,ENST00000585942,;CACTIN,upstream_gene_variant,,ENST00000587175,;CACTIN,upstream_gene_variant,,ENST00000589321,;	261	26	31	SUCCESS
ZNF568	374900	.	GRCh37	19	37440932	37440932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	95	0	ENST00000333987.7:c.877C>T	p.Leu293Phe	p.L293F	ENST00000333987	NM_001204835.1	293	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS42558.1	877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAACCTTATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF147,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000334685	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333987	Transcript	.	.	ENSG00000198453	25392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.06)	.	ZN568_HUMAN	ZNF568	HGNC	A2VDJ6_HUMAN	.	UPI000059D700	SNV	ZNF568,missense_variant,p.Leu229Phe,ENST00000415168,;ZNF568,missense_variant,p.Leu293Phe,ENST00000333987,;ZNF568,missense_variant,p.Leu229Phe,ENST00000587857,;ZNF568,intron_variant,,ENST00000455427,;ZNF568,intron_variant,,ENST00000444991,;ZNF568,intron_variant,,ENST00000427117,;	1383	95	91	SUCCESS
ZNF585A	199704	.	GRCh37	19	37643170	37643170	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	31	228	0	ENST00000292841.5:c.1466A>G	p.His489Arg	p.H489R	ENST00000292841	NM_152655.2	489	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS12499.1	1466	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGTGAATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000292841	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292841	Transcript	.	.	ENSG00000196967	26305	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	Z585A_HUMAN	ZNF585A	HGNC	.	.	UPI000007213F	SNV	ZNF585A,missense_variant,p.His489Arg,ENST00000292841,;ZNF585A,missense_variant,p.His489Arg,ENST00000392157,;ZNF585A,missense_variant,p.His544Arg,ENST00000356958,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,intron_variant,,ENST00000355533,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	1964	228	229	SUCCESS
ZNF793	390927	.	GRCh37	19	38028487	38028487	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	108	0	ENST00000445217.1:c.927A>G	p.Arg309=	p.R309=	ENST00000445217		309	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS46062.1	927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGACCCTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000396402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000445217	Transcript	.	.	ENSG00000188227	33115	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	SNV	ZNF793,synonymous_variant,p.%3D,ENST00000587143,;ZNF793,synonymous_variant,p.%3D,ENST00000542455,;ZNF793,synonymous_variant,p.%3D,ENST00000445217,;ZNF793,3_prime_UTR_variant,,ENST00000588578,;ZNF793,intron_variant,,ENST00000589319,;ZNF793,downstream_gene_variant,,ENST00000587490,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,downstream_gene_variant,,ENST00000587986,;ZNF793,intron_variant,,ENST00000586187,;	962	108	85	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38572170	38572170	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs370123508	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	37	0	ENST00000222345.6:c.-36C>T		p.*12*	ENST00000222345	NM_015073.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS33007.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCGTACG	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000222345	T:0	3/22	.	.	.	.	.	.	.	.	rs370123508	3/22	PASS	ENST00000222345	Transcript	.	T:0.0002	ENSG00000105738	23801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0.001	.	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,5_prime_UTR_variant,,ENST00000222345,;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	474	37	44	SUCCESS
ECH1	1891	.	GRCh37	19	39307754	39307754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	35	79	0	ENST00000221418.4:c.539C>T	p.Thr180Ile	p.T180I	ENST00000221418	NM_001398.2	180	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS33014.1	539	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGGTGACA	NONE	.	.	hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF43,PROSITE_patterns:PS00166,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096	.	.	ENSP00000221418	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000221418	Transcript	.	.	ENSG00000104823	3149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	ECH1_HUMAN	ECH1	HGNC	M0QXS7_HUMAN	.	UPI0000071141	SNV	ECH1,missense_variant,p.Thr180Ile,ENST00000221418,;ECH1,missense_variant,p.Thr177Ile,ENST00000601778,;AC104534.3,downstream_gene_variant,,ENST00000602021,;ECH1,downstream_gene_variant,,ENST00000595470,;AC104534.3,downstream_gene_variant,,ENST00000594769,;LGALS4,upstream_gene_variant,,ENST00000307751,;LGALS4,upstream_gene_variant,,ENST00000594209,;AC104534.2,upstream_gene_variant,,ENST00000594558,;LGALS4,upstream_gene_variant,,ENST00000597803,;ECH1,3_prime_UTR_variant,,ENST00000594164,;ECH1,non_coding_transcript_exon_variant,,ENST00000600178,;ECH1,non_coding_transcript_exon_variant,,ENST00000598707,;ECH1,non_coding_transcript_exon_variant,,ENST00000594391,;ECH1,non_coding_transcript_exon_variant,,ENST00000601060,;LGALS4,upstream_gene_variant,,ENST00000597153,;LGALS4,upstream_gene_variant,,ENST00000595278,;ECH1,upstream_gene_variant,,ENST00000601333,;ECH1,downstream_gene_variant,,ENST00000598316,;	772	79	101	SUCCESS
FCGBP	8857	.	GRCh37	19	40392050	40392050	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	33	173	0	ENST00000221347.6:c.8336C>T	p.Ala2779Val	p.A2779V	ENST00000221347	NM_003890.2	2779	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS12546.1	8336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAGGCTTGG	NONE	.	.	hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Pfam_domain:PF01826,Superfamily_domains:SSF57567	.	.	ENSP00000221347	.	17/36	.	.	.	.	.	.	.	.	.	17/36	PASS	ENST00000221347	Transcript	.	.	ENSG00000090920	13572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.964)	.	.	.	FCGBP_HUMAN	FCGBP	HGNC	.	.	UPI00001B0455	SNV	FCGBP,missense_variant,p.Ala2779Val,ENST00000221347,;FCGBP,intron_variant,,ENST00000601713,;	8344	173	157	SUCCESS
CEACAM4	1089	.	GRCh37	19	42133320	42133320	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs550011355	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	64	0	ENST00000221954.2:c.12del	p.Ser5GlnfsTer15	p.S5Qfs*15	ENST00000221954	NM_001817.2	4	ccC/cc	0	C:0.0036	C:0.0038	.	C:0	.	-	P/X	protein_coding	YES	CCDS33033.1	12	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTGAGGGGGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111	C:0	C:0	ENSP00000221954	C:0	1/7	.	.	.	.	.	.	.	.	rs550011355,rs144781407,COSM268866	1/7	PASS	ENST00000221954	Transcript	.	-:0.0008,C:0.0010	ENSG00000105352	1816	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	C:0	.	0,0,1	CEAM4_HUMAN	CEACAM4	HGNC	.	.	UPI0000070B54	deletion	CEACAM4,frameshift_variant,p.Ser5GlnfsTer15,ENST00000221954,;CEACAM4,frameshift_variant,p.Ser5GlnfsTer15,ENST00000600925,;CEACAM4,non_coding_transcript_exon_variant,,ENST00000472081,;	123	64	63	SUCCESS
DMRTC2	63946	.	GRCh37	19	42352585	42352585	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs782763862	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	43	241	0	ENST00000269945.3:c.441del	p.Lys149ArgfsTer87	p.K149Rfs*87	ENST00000269945	NM_001040283.1	146	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS33034.1	436	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGACACCCCCC	NONE	.	.	hmmpanther:PTHR12322:SF12,hmmpanther:PTHR12322	.	.	ENSP00000269945	.	4/9	.	.	.	.	.	.	.	.	rs782763862	4/9	PASS	ENST00000269945	Transcript	.	.	ENSG00000142025	13911	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DMRTD_HUMAN	DMRTC2	HGNC	M0R2D7_HUMAN,M0R1Z9_HUMAN,M0QZH7_HUMAN	.	UPI0000071B2A	deletion	DMRTC2,frameshift_variant,p.Lys149ArgfsTer87,ENST00000269945,;DMRTC2,frameshift_variant,p.Lys149ArgfsTer87,ENST00000596827,;DMRTC2,frameshift_variant,p.Lys149ArgfsTer?,ENST00000600017,;DMRTC2,frameshift_variant,p.Lys149ArgfsTer?,ENST00000596660,;LYPD4,upstream_gene_variant,,ENST00000330743,;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,downstream_gene_variant,,ENST00000596258,;DMRTC2,non_coding_transcript_exon_variant,,ENST00000602098,;DMRTC2,frameshift_variant,p.Lys149SerfsTer250,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;	487	241	288	SUCCESS
SHD	56961	.	GRCh37	19	4290532	4290532	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750616574	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	51	150	0	ENST00000543264.2:c.925G>A	p.Val309Met	p.V309M	ENST00000543264	NM_020209.3	309	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS12125.1	925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGTGCCC	NONE	byFrequency	.	Prints_domain:PR00401,Superfamily_domains:SSF55550,SMART_domains:SM00252,Pfam_domain:PF00017,Gene3D:3.30.505.10,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF28,PROSITE_profiles:PS50001	.	.	ENSP00000446058	.	6/6	.	.	.	.	.	.	.	.	rs750616574	6/6	PASS	ENST00000543264	Transcript	.	.	ENSG00000105251	30633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	SHD_HUMAN	SHD	HGNC	.	.	UPI000007030D	SNV	SHD,missense_variant,p.Val309Met,ENST00000543264,;SHD,missense_variant,p.Val269Met,ENST00000599689,;TMIGD2,downstream_gene_variant,,ENST00000600349,;TMIGD2,downstream_gene_variant,,ENST00000301272,;TMIGD2,downstream_gene_variant,,ENST00000595645,;TMIGD2,downstream_gene_variant,,ENST00000600114,;SHD,downstream_gene_variant,,ENST00000600475,;SHD,3_prime_UTR_variant,,ENST00000593383,;SHD,non_coding_transcript_exon_variant,,ENST00000597466,;	2388	150	138	SUCCESS
ZNF227	7770	.	GRCh37	19	44740750	44740750	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	98	0	ENST00000313040.7:c.2167A>G	p.Lys723Glu	p.K723E	ENST00000313040	NM_182490.1	723	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12636.1	2167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTAAGGCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	SNV	ZNF227,missense_variant,p.Lys672Glu,ENST00000589005,;ZNF227,missense_variant,p.Lys723Glu,ENST00000313040,;ZNF227,missense_variant,p.Lys672Glu,ENST00000391961,;ZNF235,3_prime_UTR_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000588394,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	2372	98	83	SUCCESS
APOC1	341	.	GRCh37	19	45419500	45419500	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs778438750	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	398	65	459	1	ENST00000588750.1:c.112A>G	p.Lys38Glu	p.K38E	ENST00000588750		38	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS12648.1	112	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGAAGGAG	NONE	byFrequency	.	hmmpanther:PTHR16565,Gene3D:1iojA00,Pfam_domain:PF04691	.	.	ENSP00000465356	.	4/5	.	.	.	.	.	.	.	.	rs778438750	4/5	PASS	ENST00000588750	Transcript	.	.	ENSG00000130208	607	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.1)	.	APOC1_HUMAN	APOC1	HGNC	B2R526_HUMAN,K7ERI9_HUMAN,K7EKP1_HUMAN	.	UPI0000125C19	SNV	APOC1,missense_variant,p.Lys38Glu,ENST00000592885,;APOC1,missense_variant,p.Lys38Glu,ENST00000592535,;APOC1,missense_variant,p.Lys38Glu,ENST00000252491,;APOC1,missense_variant,p.Lys38Glu,ENST00000588750,;APOC1,missense_variant,p.Lys38Glu,ENST00000589078,;APOC1,missense_variant,p.Lys38Glu,ENST00000586638,;APOC1,missense_variant,p.Lys38Glu,ENST00000588802,;APOC1,intron_variant,,ENST00000589781,;APOC1,missense_variant,p.Lys38Glu,ENST00000590334,;APOC1,3_prime_UTR_variant,,ENST00000592176,;	437	460	464	SUCCESS
SYMPK	8189	.	GRCh37	19	46318890	46318890	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	105	0	ENST00000245934.7:c.3753A>T	p.Gly1251=	p.G1251=	ENST00000245934	NM_004819.2	1251	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12676.2	3753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTCCAAC	NONE	.	.	hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	.	.	ENSP00000245934	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000245934	Transcript	.	.	ENSG00000125755	22935	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYMPK_HUMAN	SYMPK	HGNC	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN	.	UPI00002026C0	SNV	SYMPK,synonymous_variant,p.%3D,ENST00000245934,;RSPH6A,upstream_gene_variant,,ENST00000600188,;RSPH6A,upstream_gene_variant,,ENST00000221538,;RSPH6A,upstream_gene_variant,,ENST00000597055,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000596824,;SYMPK,downstream_gene_variant,,ENST00000598329,;	3998	105	96	SUCCESS
IRF2BP1	26145	.	GRCh37	19	46387532	46387532	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs772379292	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	13	80	0	ENST00000302165.3:c.1501del	p.Leu501CysfsTer10	p.L501Cfs*10	ENST00000302165	NM_015649.1	501	Ctg/tg	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS12678.1	1501	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCACAGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR10816:SF17,hmmpanther:PTHR10816,Superfamily_domains:SSF57850	.	.	ENSP00000307265	.	1/1	.	.	.	.	.	.	.	.	rs772379292	1/1	PASS	ENST00000302165	Transcript	.	.	ENSG00000170604	21728	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	I2BP1_HUMAN	IRF2BP1	HGNC	.	.	UPI00000747C7	deletion	IRF2BP1,frameshift_variant,p.Leu501CysfsTer10,ENST00000302165,;	1845	80	94	SUCCESS
ODF3L2	284451	.	GRCh37	19	464152	464152	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1207964519	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	64	0	ENST00000315489.4:c.562C>T	p.Arg188Cys	p.R188C	ENST00000315489	NM_182577.2	188	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS12027.1	562	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGCGGCCCA	NONE	.	.	hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF2,Pfam_domain:PF07004,Prints_domain:PR01217	.	.	ENSP00000318029	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000315489	Transcript	.	.	ENSG00000181781	26841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	OD3L2_HUMAN	ODF3L2	HGNC	.	.	UPI0000072898	SNV	ODF3L2,missense_variant,p.Arg188Cys,ENST00000315489,;ODF3L2,missense_variant,p.Arg152Cys,ENST00000382696,;SHC2,upstream_gene_variant,,ENST00000264554,;ODF3L2,non_coding_transcript_exon_variant,,ENST00000591681,;SHC2,upstream_gene_variant,,ENST00000590222,;	798	64	56	SUCCESS
KDELR1	10945	.	GRCh37	19	48887541	48887541	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	17	127	0	ENST00000330720.2:c.550G>A	p.Gly184Ser	p.G184S	ENST00000330720	NM_006801.2	184	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS12718.1	550	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCCTGCCA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00660,hmmpanther:PTHR10585:SF7,hmmpanther:PTHR10585	.	.	ENSP00000329471	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000330720	Transcript	.	.	ENSG00000105438	6304	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	ERD21_HUMAN	KDELR1	HGNC	Q8NBW7_HUMAN	.	UPI000012A0CA	SNV	KDELR1,missense_variant,p.Gly122Ser,ENST00000597017,;KDELR1,missense_variant,p.Gly184Ser,ENST00000330720,;KDELR1,missense_variant,p.Arg206Lys,ENST00000600980,;	745	127	105	SUCCESS
KCNJ14	3770	.	GRCh37	19	48965133	48965133	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	103	1	ENST00000342291.2:c.152G>A	p.Arg51His	p.R51H	ENST00000342291	NM_013348.3	51	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS12721.1	152	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCGCTTCG	NONE	.	.	hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF40,PIRSF_domain:PIRSF005465	.	.	ENSP00000375756	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000391884	Transcript	.	.	ENSG00000182324	6260	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.94)	.	deleterious(0.02)	.	IRK14_HUMAN	KCNJ14	HGNC	.	.	UPI000003E7B4	SNV	KCNJ14,missense_variant,p.Arg51His,ENST00000342291,;KCNJ14,missense_variant,p.Arg51His,ENST00000391884,;CTC-273B12.7,upstream_gene_variant,,ENST00000595676,;GRWD1,downstream_gene_variant,,ENST00000253237,;CTC-273B12.6,upstream_gene_variant,,ENST00000597574,;CTC-273B12.5,downstream_gene_variant,,ENST00000593476,;CTC-273B12.5,downstream_gene_variant,,ENST00000600650,;CTC-273B12.5,downstream_gene_variant,,ENST00000596497,;CTC-273B12.5,downstream_gene_variant,,ENST00000600529,;	628	104	100	SUCCESS
SPACA4	171169	.	GRCh37	19	49110275	49110275	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	38	0	ENST00000321762.1:c.44del	p.Pro15GlnfsTer191	p.P15Qfs*191	ENST00000321762	NM_133498.2	14	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS12725.1	40	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCTGCCCCCA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR31337	.	.	ENSP00000312774	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321762	Transcript	.	.	ENSG00000177202	16441	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SACA4_HUMAN	SPACA4	HGNC	.	.	UPI000000DBD9	deletion	SPACA4,frameshift_variant,p.Pro15GlnfsTer191,ENST00000321762,;FAM83E,intron_variant,,ENST00000263266,;FAM83E,downstream_gene_variant,,ENST00000593772,;	276	38	53	SUCCESS
PNKP	11284	.	GRCh37	19	50370458	50370458	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	19	87	0	ENST00000322344.3:c.4G>T	p.Gly2Cys	p.G2C	ENST00000322344	NM_007254.3	2	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS12783.1	4	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCCATCC	NONE	.	.	TIGRFAM_domain:TIGR01663	.	.	ENSP00000323511	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000322344	Transcript	1	.	ENSG00000039650	9154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.332)	.	deleterious_low_confidence(0)	.	PNKP_HUMAN	PNKP	HGNC	M0R000_HUMAN,M0QYI1_HUMAN	.	UPI00000705EA	SNV	PNKP,missense_variant,p.Gly2Cys,ENST00000322344,;PNKP,missense_variant,p.Gly2Cys,ENST00000600910,;PNKP,missense_variant,p.Gly2Cys,ENST00000596014,;PNKP,missense_variant,p.Gly2Cys,ENST00000596726,;PNKP,missense_variant,p.Gly2Cys,ENST00000600573,;PNKP,missense_variant,p.Gly2Cys,ENST00000599543,;AKT1S1,downstream_gene_variant,,ENST00000391835,;AKT1S1,downstream_gene_variant,,ENST00000391832,;AKT1S1,downstream_gene_variant,,ENST00000344175,;AKT1S1,downstream_gene_variant,,ENST00000391833,;AKT1S1,downstream_gene_variant,,ENST00000391831,;AKT1S1,downstream_gene_variant,,ENST00000391834,;PNKP,non_coding_transcript_exon_variant,,ENST00000595792,;PNKP,missense_variant,p.Gly2Cys,ENST00000593946,;PNKP,missense_variant,p.Gly2Cys,ENST00000598020,;PNKP,upstream_gene_variant,,ENST00000601816,;PNKP,upstream_gene_variant,,ENST00000593706,;PNKP,upstream_gene_variant,,ENST00000594661,;	114	87	104	SUCCESS
KLK6	5653	.	GRCh37	19	51462437	51462437	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	26	149	0	ENST00000310157.2:c.718del	p.Thr240ProfsTer10	p.T240Pfs*10	ENST00000310157	NM_002774.3	240	Acc/cc	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS12811.1	718	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATGGTTTTTT	NONE	.	.	Superfamily_domains:SSF50494,Gene3D:2.40.10.10,hmmpanther:PTHR24271:SF19,hmmpanther:PTHR24271,PROSITE_profiles:PS50240	.	.	ENSP00000366047	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000376851	Transcript	.	.	ENSG00000167755	6367	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLK6_HUMAN	KLK6	HGNC	.	.	UPI000004CA06	deletion	KLK6,frameshift_variant,p.Thr240ProfsTer10,ENST00000310157,;KLK6,frameshift_variant,p.Thr133ProfsTer10,ENST00000456750,;KLK6,frameshift_variant,p.Thr240ProfsTer10,ENST00000376851,;KLK6,frameshift_variant,p.Thr240ProfsTer10,ENST00000594641,;KLK6,frameshift_variant,p.Lys111AsnfsTer?,ENST00000376853,;KLK6,frameshift_variant,p.Thr133ProfsTer10,ENST00000391808,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,intron_variant,,ENST00000601506,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;KLK6,3_prime_UTR_variant,,ENST00000599690,;KLK6,3_prime_UTR_variant,,ENST00000597379,;KLK6,3_prime_UTR_variant,,ENST00000599881,;	1158	149	167	SUCCESS
ZNF615	284370	.	GRCh37	19	52496176	52496176	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs181711461	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	26	192	0	ENST00000376716.5:c.2153C>T	p.Ala718Val	p.A718V	ENST00000376716	NM_198480.3	718	gCg/gTg	0	.	A:0	.	A:0.0029	.	A	A/V	protein_coding	YES	CCDS59418.1	2186	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCGCAAAA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF167,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0.004	.	ENSP00000471549	A:0	6/6	.	.	.	.	.	.	.	.	rs181711461,COSM3423056,COSM3423055	6/6	PASS	ENST00000594083	Transcript	.	A:0.0012	ENSG00000197619	24740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.937)	A:0	tolerated(0.63)	0,1,1	ZN615_HUMAN	ZNF615	HGNC	.	.	UPI000022A99B	SNV	ZNF615,missense_variant,p.Ala723Val,ENST00000391795,;ZNF615,missense_variant,p.Ala718Val,ENST00000376716,;ZNF615,missense_variant,p.Ala718Val,ENST00000602063,;ZNF615,missense_variant,p.Ala729Val,ENST00000594083,;ZNF615,missense_variant,p.Ala729Val,ENST00000598071,;ZNF615,downstream_gene_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000601178,;ZNF615,3_prime_UTR_variant,,ENST00000599177,;ZNF615,downstream_gene_variant,,ENST00000599115,;	2431	192	167	SUCCESS
ZNF480	147657	.	GRCh37	19	52825303	52825303	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Del	DEL	T	T	-	rs375581081	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	10	104	0	ENST00000468240.2:c.804del	p.Phe268LeufsTer63	p.F268Lfs*63	ENST00000468240		267	gTt/gt	0	C:0.0007	.	.	.	.	-	V/X	protein_coding	YES	CCDS12850.2	800	INDELOCATOR|VARSCANI	.	GCAAGGTTTTTA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF12,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	C:0	ENSP00000471754	.	5/5	.	.	.	.	.	.	.	.	rs375581081	5/5	PASS	ENST00000595962	Transcript	.	.	ENSG00000198464	23305	4	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN480_HUMAN	ZNF480	HGNC	.	.	UPI0000202AEF	deletion	ZNF480,frameshift_variant,p.Phe225LeufsTer63,ENST00000334564,;ZNF480,frameshift_variant,p.Phe191LeufsTer63,ENST00000335090,;ZNF480,frameshift_variant,p.Phe268LeufsTer63,ENST00000595962,;ZNF480,3_prime_UTR_variant,,ENST00000490272,;ZNF480,downstream_gene_variant,,ENST00000598016,;CTD-2525I3.6,intron_variant,,ENST00000594379,;ZNF480,frameshift_variant,p.Phe268LeufsTer63,ENST00000468240,;	866	104	108	SUCCESS
ZNF880	400713	.	GRCh37	19	52877661	52877661	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	39	218	0	ENST00000422689.2:c.249C>A	p.Cys83Ter	p.C83*	ENST00000422689	NM_001145434.1	83	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS46164.1	249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCATCAA	NONE	.	.	hmmpanther:PTHR24377:SF108,hmmpanther:PTHR24377	.	.	ENSP00000406318	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,stop_gained,p.Cys83Ter,ENST00000422689,;ZNF880,stop_gained,p.Cys83Ter,ENST00000600321,;ZNF880,stop_gained,p.Cys83Ter,ENST00000424032,;ZNF880,stop_gained,p.Cys83Ter,ENST00000597976,;ZNF880,intron_variant,,ENST00000344085,;ZNF880,downstream_gene_variant,,ENST00000595099,;	264	218	195	SUCCESS
ZNF528	84436	.	GRCh37	19	52919436	52919436	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	122	0	ENST00000360465.3:c.1331C>T	p.Thr444Ile	p.T444I	ENST00000360465	NM_032423.2	444	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS33091.1	1331	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACAGCGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF143,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000353652	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360465	Transcript	.	.	ENSG00000167555	29384	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.544)	.	deleterious(0)	.	ZN528_HUMAN	ZNF528	HGNC	C9K0H2_HUMAN	.	UPI00001B6535	SNV	ZNF528,missense_variant,p.Thr444Ile,ENST00000360465,;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,downstream_gene_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,downstream_gene_variant,,ENST00000479718,;	1757	122	118	SUCCESS
ZNF534	147658	.	GRCh37	19	52941014	52941014	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	174	83	289	0	ENST00000332323.6:c.340G>A	p.Gly114Arg	p.G114R	ENST00000332323	NM_001143939.1	114	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS46165.1	340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAGGAAAC	NONE	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187	.	.	ENSP00000327538	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332323	Transcript	.	.	ENSG00000198633	26337	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.316)	.	tolerated(0.08)	.	ZN534_HUMAN	ZNF534	HGNC	.	.	UPI0000351984	SNV	ZNF534,missense_variant,p.Gly114Arg,ENST00000332323,;ZNF534,missense_variant,p.Gly101Arg,ENST00000433050,;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,;	401	289	257	SUCCESS
MYADM	91663	.	GRCh37	19	54377623	54377623	+	synonymous_variant	Silent	SNP	C	C	T	rs752025084	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	67	0	ENST00000336967.3:c.840C>T	p.Ser280=	p.S280=	ENST00000336967	NM_001020820.1	280	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS12866.1	840	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCGCAG	NONE	.	.	Pfam_domain:PF01284,hmmpanther:PTHR17068:SF3,hmmpanther:PTHR17068,PROSITE_profiles:PS51225	.	.	ENSP00000375649	.	3/3	.	.	.	.	.	.	.	.	rs752025084,COSM4081109	3/3	PASS	ENST00000391769	Transcript	.	.	ENSG00000179820	7544	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	MYADM_HUMAN	MYADM	HGNC	C9JZL8_HUMAN,C9JJV6_HUMAN,C9JC07_HUMAN,C9J5M0_HUMAN	.	UPI0000001BEF	SNV	MYADM,synonymous_variant,p.%3D,ENST00000391771,;MYADM,synonymous_variant,p.%3D,ENST00000391769,;MYADM,synonymous_variant,p.%3D,ENST00000391768,;MYADM,synonymous_variant,p.%3D,ENST00000336967,;MYADM,synonymous_variant,p.%3D,ENST00000391770,;PRKCG,upstream_gene_variant,,ENST00000479081,;MYADM,downstream_gene_variant,,ENST00000414489,;MYADM,downstream_gene_variant,,ENST00000439000,;MYADM,downstream_gene_variant,,ENST00000448420,;MYADM,downstream_gene_variant,,ENST00000421337,;AC008440.5,downstream_gene_variant,,ENST00000413496,;	1120	67	76	SUCCESS
PRKCG	5582	.	GRCh37	19	54406355	54406355	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	42	103	0	ENST00000263431.3:c.1604C>T	p.Ser535Phe	p.S535F	ENST00000263431	NM_002739.3	535	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS12867.1	1604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTCTGTCG	NONE	.	.	Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000263431	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,missense_variant,p.Ser422Phe,ENST00000542049,;PRKCG,missense_variant,p.Ser535Phe,ENST00000540413,;PRKCG,missense_variant,p.Ser535Phe,ENST00000263431,;PRKCG,downstream_gene_variant,,ENST00000536044,;	1886	103	129	SUCCESS
LENG8	114823	.	GRCh37	19	54965734	54965734	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	117	0	ENST00000326764.5:c.552G>A	p.Gln184=	p.Q184=	ENST00000326764	NM_052925.2	184	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS12894.1	552	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGCCTGG	NONE	.	.	hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	.	.	ENSP00000318374	.	6/16	.	.	.	.	.	.	.	.	COSM1001142	6/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,synonymous_variant,p.%3D,ENST00000326764,;LENG8,synonymous_variant,p.%3D,ENST00000431846,;LENG8,synonymous_variant,p.%3D,ENST00000439657,;LENG8,synonymous_variant,p.%3D,ENST00000376526,;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000462541,;	1031	117	102	SUCCESS
DNAAF3	352909	.	GRCh37	19	55676758	55676758	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1428700667	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	68	0	ENST00000524407.2:c.302C>T	p.Pro101Leu	p.P101L	ENST00000524407		101	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS58680.1	506	RADIA|MUTECT|MUSE	.	TCTCCGGTTCC	NONE	.	.	hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF4,Pfam_domain:PF14737	.	.	ENSP00000436975	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000527223	Transcript	1	.	ENSG00000167646	30492	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.54)	.	tolerated(0.07)	.	DAAF3_HUMAN	DNAAF3	HGNC	H0YD30_HUMAN,H0YCU4_HUMAN	.	UPI000013E6F1	SNV	DNAAF3,missense_variant,p.Pro148Leu,ENST00000391720,;DNAAF3,missense_variant,p.Pro83Leu,ENST00000534170,;DNAAF3,missense_variant,p.Pro101Leu,ENST00000524407,;DNAAF3,missense_variant,p.Pro47Leu,ENST00000455045,;DNAAF3,missense_variant,p.Pro101Leu,ENST00000526003,;DNAAF3,missense_variant,p.Pro83Leu,ENST00000532817,;DNAAF3,missense_variant,p.Pro169Leu,ENST00000527223,;DNAAF3,upstream_gene_variant,,ENST00000588076,;snoU13,upstream_gene_variant,,ENST00000459370,;CTD-2587H24.5,intron_variant,,ENST00000591665,;DNAAF3,downstream_gene_variant,,ENST00000528476,;DNAAF3,upstream_gene_variant,,ENST00000587789,;DNAAF3,upstream_gene_variant,,ENST00000527166,;DNAAF3,upstream_gene_variant,,ENST00000527292,;DNAAF3,3_prime_UTR_variant,,ENST00000534214,;DNAAF3,3_prime_UTR_variant,,ENST00000528412,;DNAAF3,upstream_gene_variant,,ENST00000526959,;DNAAF3,downstream_gene_variant,,ENST00000586877,;CTD-2587H24.4,upstream_gene_variant,,ENST00000587871,;DNAAF3,upstream_gene_variant,,ENST00000533527,;	508	68	88	SUCCESS
CATSPERD	257062	.	GRCh37	19	5778650	5778650	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs556362293	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	27	146	0	ENST00000381624.3:c.2360G>A	p.Arg787His	p.R787H	ENST00000381624	NM_152784.3	787	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	CCDS12149.2	2360	RADIA|MUTECT|MUSE|VARSCANS	.	GGGACGCCACC	NONE	by1000G	.	.	A:0	.	ENSP00000371037	A:0	22/22	.	.	.	.	.	.	.	.	rs556362293,COSM1229559	22/22	PASS	ENST00000381624	Transcript	.	A:0.0002	ENSG00000174898	28598	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.003)	A:0.001	tolerated_low_confidence(0.27)	0,1	CTSRD_HUMAN	CATSPERD	HGNC	.	.	UPI000059D641	SNV	CATSPERD,missense_variant,p.Arg787His,ENST00000381624,;PRR22,downstream_gene_variant,,ENST00000390672,;PRR22,downstream_gene_variant,,ENST00000419421,;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,downstream_gene_variant,,ENST00000448307,;	2421	147	154	SUCCESS
PSPN	5623	.	GRCh37	19	6375770	6375770	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	41	201	0	ENST00000245810.1:c.91G>A	p.Val31Met	p.V31M	ENST00000245810	NM_004158.2	31	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS12164.1	91	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCACGGGAA	NONE	.	.	hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF8	.	.	ENSP00000245810	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000245810	Transcript	.	.	ENSG00000125650	9579	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	tolerated(0.09)	.	PSPN_HUMAN	PSPN	HGNC	.	.	UPI0000050F8D	SNV	PSPN,missense_variant,p.Val31Met,ENST00000597721,;PSPN,missense_variant,p.Val31Met,ENST00000245810,;ALKBH7,downstream_gene_variant,,ENST00000245812,;GTF2F1,downstream_gene_variant,,ENST00000429701,;ALKBH7,downstream_gene_variant,,ENST00000599849,;ALKBH7,downstream_gene_variant,,ENST00000596657,;GTF2F1,downstream_gene_variant,,ENST00000593678,;GTF2F1,downstream_gene_variant,,ENST00000394456,;GTF2F1,downstream_gene_variant,,ENST00000594965,;GTF2F1,downstream_gene_variant,,ENST00000594213,;	91	201	204	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7524856	7524856	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201212270	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	8	110	0	ENST00000359920.6:c.1864G>A	p.Ala622Thr	p.A622T	ENST00000359920	NM_001130955.1	622	Gcc/Acc	0	.	A:0	.	A:0	.	A	A/T	protein_coding	YES	CCDS45946.1	1864	MUTECT|MUSE	.	CCCGCGCCACG	NONE	byCluster|by1000G	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF9	A:0.001	.	ENSP00000352995	A:0	10/20	.	.	.	.	.	.	.	.	rs201212270	10/20	PASS	ENST00000359920	Transcript	.	A:0.0002	ENSG00000104880	17090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.059)	A:0	tolerated(0.12)	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,missense_variant,p.Ala622Thr,ENST00000359920,;ARHGEF18,missense_variant,p.Ala267Thr,ENST00000594665,;ARHGEF18,missense_variant,p.Ala464Thr,ENST00000319670,;CTD-2207O23.3,missense_variant,p.Ala580Thr,ENST00000593531,;	2117	110	139	SUCCESS
CAMSAP3	57662	.	GRCh37	19	7676008	7676008	+	synonymous_variant	Silent	SNP	G	G	A	rs200200399	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	6	75	0	ENST00000160298.4:c.1077G>A	p.Pro359=	p.P359=	ENST00000160298	NM_020902.1	359	ccG/ccA	0	.	A:0	.	A:0.0029	.	A	P	protein_coding	YES	CCDS45947.1	1158	MUTECT|MUSE|VARSCANS	.	CACCCGCTTCT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2	A:0	.	ENSP00000416797	A:0	11/19	.	.	.	.	.	.	.	.	rs200200399	11/19	PASS	ENST00000446248	Transcript	.	A:0.0004	ENSG00000076826	29307	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	CAMP3_HUMAN	CAMSAP3	HGNC	Q8WZ12_HUMAN,D6W648_HUMAN	.	UPI0000161861	SNV	CAMSAP3,synonymous_variant,p.%3D,ENST00000160298,;CAMSAP3,synonymous_variant,p.%3D,ENST00000446248,;CAMSAP3,upstream_gene_variant,,ENST00000595692,;	1259	75	69	SUCCESS
XAB2	56949	.	GRCh37	19	7687478	7687478	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	35	0	ENST00000358368.4:c.1441T>C	p.Tyr481His	p.Y481H	ENST00000358368	NM_020196.2	481	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS32892.1	1441	RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTACACGC	NONE	.	.	Superfamily_domains:SSF48452,SMART_domains:SM00386,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13	.	.	ENSP00000351137	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000358368	Transcript	.	.	ENSG00000076924	14089	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.016)	.	tolerated(1)	.	SYF1_HUMAN	XAB2	HGNC	Q68CN2_HUMAN,F5H315_HUMAN	.	UPI0000001BDE	SNV	XAB2,missense_variant,p.Tyr481His,ENST00000358368,;XAB2,missense_variant,p.Tyr478His,ENST00000534844,;CAMSAP3,downstream_gene_variant,,ENST00000160298,;CAMSAP3,downstream_gene_variant,,ENST00000446248,;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;XAB2,upstream_gene_variant,,ENST00000600230,;CAMSAP3,downstream_gene_variant,,ENST00000595692,;XAB2,upstream_gene_variant,,ENST00000596134,;	1479	35	36	SUCCESS
FBN3	84467	.	GRCh37	19	8145942	8145942	+	synonymous_variant	Silent	SNP	G	G	A	rs759336128	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	21	0	ENST00000270509.2:c.7398C>T	p.Gly2466=	p.G2466=	ENST00000270509	NM_032447.3	2466	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12196.1	7398	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGCCCAC	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF0,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000470498	.	59/64	.	.	.	.	.	.	.	.	rs759336128	59/64	PASS	ENST00000600128	Transcript	.	.	ENSG00000142449	18794	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBN3_HUMAN	FBN3	HGNC	.	.	UPI000013D88F	SNV	FBN3,synonymous_variant,p.%3D,ENST00000600128,;FBN3,synonymous_variant,p.%3D,ENST00000601739,;FBN3,synonymous_variant,p.%3D,ENST00000270509,;FBN3,upstream_gene_variant,,ENST00000595036,;	7813	21	31	SUCCESS
OR7D4	125958	.	GRCh37	19	9324680	9324680	+	synonymous_variant	Silent	SNP	G	G	A	rs771972062	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	25	61	0	ENST00000308682.2:c.834C>T	p.Tyr278=	p.Y278=	ENST00000308682	NM_001005191.2	278	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS32901.1	834	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGCGTACAT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000310488	.	1/1	.	.	.	.	.	.	.	.	COSM1326053	1/1	PASS	ENST00000308682	Transcript	.	.	ENSG00000174667	8380	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR7D4_HUMAN	OR7D4	HGNC	.	.	UPI00000472B5	SNV	OR7D4,synonymous_variant,p.%3D,ENST00000308682,;	863	61	64	SUCCESS
CDC14A	8556	.	GRCh37	1	100889837	100889837	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs773911500	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	36	115	0	ENST00000336454.3:c.375del	p.Tyr126IlefsTer64	p.Y126Ifs*64	ENST00000336454	NM_003672.3	123	aaC/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS770.1	369	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCAAACCCCCC	NONE	.	.	hmmpanther:PTHR23339:SF62,hmmpanther:PTHR23339,Gene3D:3.90.190.10,Pfam_domain:PF14671,Superfamily_domains:SSF52799	.	.	ENSP00000354916	.	5/15	.	.	.	.	.	.	.	.	rs773911500,COSM1332004	5/15	PASS	ENST00000361544	Transcript	.	.	ENSG00000079335	1718	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	CC14A_HUMAN	CDC14A	HGNC	F5H7B3_HUMAN	.	UPI000006EC22	deletion	CDC14A,frameshift_variant,p.Tyr126IlefsTer64,ENST00000370124,;CDC14A,frameshift_variant,p.Tyr126IlefsTer64,ENST00000336454,;CDC14A,frameshift_variant,p.Tyr126IlefsTer64,ENST00000361544,;CDC14A,frameshift_variant,p.Tyr127IlefsTer64,ENST00000455467,;CDC14A,frameshift_variant,p.Tyr68IlefsTer64,ENST00000542213,;CDC14A,frameshift_variant,p.Tyr126IlefsTer64,ENST00000544534,;CDC14A,frameshift_variant,p.Tyr126IlefsTer55,ENST00000370125,;CDC14A,non_coding_transcript_exon_variant,,ENST00000469387,;	833	115	133	SUCCESS
CHI3L2	1117	.	GRCh37	1	111773538	111773538	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	17	92	0	ENST00000369748.4:c.245A>G	p.Tyr82Cys	p.Y82C	ENST00000369748	NM_004000.2	82	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS30802.1	245	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTACCAGA	NONE	.	.	Superfamily_domains:SSF51445,SMART_domains:SM00636,Pfam_domain:PF00704,Gene3D:3.20.20.80,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF82	.	.	ENSP00000437082	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000445067	Transcript	.	.	ENSG00000064886	1933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	CH3L2_HUMAN	CHI3L2	HGNC	E9PRL9_HUMAN,E9PR52_HUMAN,E9PPX4_HUMAN,E9PIX1_HUMAN	.	UPI0000126C1A	SNV	CHI3L2,missense_variant,p.Tyr3Cys,ENST00000497587,;CHI3L2,missense_variant,p.Tyr3Cys,ENST00000466741,;CHI3L2,missense_variant,p.Tyr82Cys,ENST00000445067,;CHI3L2,missense_variant,p.Tyr82Cys,ENST00000369748,;CHI3L2,missense_variant,p.Tyr3Cys,ENST00000467038,;CHI3L2,missense_variant,p.Tyr72Cys,ENST00000369744,;CHI3L2,missense_variant,p.Tyr82Cys,ENST00000528451,;CHI3L2,missense_variant,p.Tyr3Cys,ENST00000477185,;CHI3L2,missense_variant,p.Tyr82Cys,ENST00000474304,;CHI3L2,missense_variant,p.Tyr82Cys,ENST00000486561,;CHI3L2,missense_variant,p.Tyr51Cys,ENST00000533831,;CHI3L2,missense_variant,p.Tyr3Cys,ENST00000524472,;CHI3L2,upstream_gene_variant,,ENST00000497220,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000530597,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000526684,;	1016	92	95	SUCCESS
SPAG17	200162	.	GRCh37	1	118539117	118539117	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	289	37	170	0	ENST00000336338.5:c.4929del	p.Phe1643LeufsTer18	p.F1643Lfs*18	ENST00000336338	NM_206996.2	1643	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS899.1	4929	INDELOCATOR*|VARSCANI*|PINDEL	.	CATAACAAAAAA	NONE	.	.	hmmpanther:PTHR21963	.	.	ENSP00000337804	.	34/49	.	.	.	.	.	.	.	.	.	34/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	deletion	SPAG17,frameshift_variant,p.Phe123LeufsTer18,ENST00000437255,;SPAG17,frameshift_variant,p.Phe1643LeufsTer18,ENST00000336338,;	4995	170	326	SUCCESS
HSD3B1	3283	.	GRCh37	1	120057162	120057162	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761719743	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	93	244	0	ENST00000369413.3:c.1016C>T	p.Ala339Val	p.A339V	ENST00000369413		339	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS903.1	1016	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCGTATA	BUFFER|p.L338L|c.1012C>T|3	byFrequency	.	hmmpanther:PTHR10366:SF296,hmmpanther:PTHR10366,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	.	.	ENSP00000358421	.	4/4	.	.	.	.	.	.	.	.	rs761719743,COSM202406	4/4	PASS	ENST00000369413	Transcript	.	.	ENSG00000203857	5217	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.012)	.	deleterious(0.01)	0,1	3BHS1_HUMAN	HSD3B1	HGNC	E9PRN7_HUMAN	.	UPI0000036BD2	SNV	HSD3B1,missense_variant,p.Ala339Val,ENST00000528909,;HSD3B1,missense_variant,p.Ala341Val,ENST00000235547,;HSD3B1,missense_variant,p.Ala339Val,ENST00000369413,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;	1161	244	179	SUCCESS
HMGCS2	3158	.	GRCh37	1	120298061	120298061	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	20	122	0	ENST00000369406.3:c.1176G>A	p.Ser392=	p.S392=	ENST00000369406	NM_005518.3	392	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS905.1	1176	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCGAGGC	NONE	.	.	hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF16,Pfam_domain:PF08540,TIGRFAM_domain:TIGR01833,Superfamily_domains:SSF53901	.	.	ENSP00000358414	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000369406	Transcript	.	.	ENSG00000134240	5008	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMCS2_HUMAN	HMGCS2	HGNC	.	.	UPI000000DA7A	SNV	HMGCS2,synonymous_variant,p.%3D,ENST00000544913,;HMGCS2,synonymous_variant,p.%3D,ENST00000369406,;HMGCS2,non_coding_transcript_exon_variant,,ENST00000472375,;HMGCS2,downstream_gene_variant,,ENST00000476640,;	1226	122	116	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144882534	144882534	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1553578686	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	170	15	149	0	ENST00000369354.3:c.3485A>G	p.His1162Arg	p.H1162R	ENST00000369354		1162	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS55627.1	3485	MUTECT|MUSE|VARSCANS	.	CTTGGTGTTGG	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	24/44	.	.	.	.	.	.	.	.	.	24/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.55)	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,missense_variant,p.His1162Arg,ENST00000369354,;PDE4DIP,missense_variant,p.His1299Arg,ENST00000369359,;PDE4DIP,missense_variant,p.His1299Arg,ENST00000530740,;PDE4DIP,missense_variant,p.His57Arg,ENST00000530592,;PDE4DIP,missense_variant,p.His1162Arg,ENST00000369356,;PDE4DIP,intron_variant,,ENST00000313382,;RP4-791M13.5,downstream_gene_variant,,ENST00000531288,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	3776	149	186	SUCCESS
PDE4DIP	9659	.	GRCh37	1	144917885	144917885	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	562	22	404	0	ENST00000369354.3:c.1401T>C	p.Leu467=	p.L467=	ENST00000369354		467	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS55627.1	1401	MUTECT|MUSE	.	GCTTCAAGGGT	NONE	.	.	hmmpanther:PTHR13895:SF2,hmmpanther:PTHR13895	.	.	ENSP00000358363	.	11/44	.	.	.	.	.	.	.	.	.	11/44	PASS	ENST00000369356	Transcript	.	.	ENSG00000178104	15580	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOME_HUMAN	PDE4DIP	HGNC	I1VE15_HUMAN	.	UPI0000458A81	SNV	PDE4DIP,synonymous_variant,p.%3D,ENST00000479408,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369354,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369349,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369359,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313431,;PDE4DIP,synonymous_variant,p.%3D,ENST00000530740,;PDE4DIP,synonymous_variant,p.%3D,ENST00000313382,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369356,;PDE4DIP,synonymous_variant,p.%3D,ENST00000529945,;PDE4DIP,synonymous_variant,p.%3D,ENST00000369351,;PDE4DIP,downstream_gene_variant,,ENST00000532801,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,upstream_gene_variant,,ENST00000533963,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000496263,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000525886,;	1692	404	585	SUCCESS
SV2A	9900	.	GRCh37	1	149877320	149877320	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	40	0	ENST00000369146.3:c.2045+112T>C		p.*682*	ENST00000369146	NM_014849.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS940.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAATGGA	NONE	.	.	.	.	.	ENSP00000358142	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369146	Transcript	.	.	ENSG00000159164	20566	.	.	MODIFIER	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SV2A_HUMAN	SV2A	HGNC	.	.	UPI000000DAD2	SNV	SV2A,3_prime_UTR_variant,,ENST00000369145,;SV2A,intron_variant,,ENST00000369146,;BOLA1,downstream_gene_variant,,ENST00000369152,;BOLA1,downstream_gene_variant,,ENST00000476344,;	.	40	49	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150131092	150131092	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	26	116	0	ENST00000369124.4:c.604T>G	p.Ser202Ala	p.S202A	ENST00000369124	NM_016274.4	202	Tct/Gct	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS945.1	604	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCTCTTGT	NONE	.	.	hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871	.	.	ENSP00000358120	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.214)	.	tolerated(0.22)	.	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,missense_variant,p.Ser82Ala,ENST00000441340,;PLEKHO1,missense_variant,p.Ser19Ala,ENST00000369126,;PLEKHO1,missense_variant,p.Ser168Ala,ENST00000025469,;PLEKHO1,missense_variant,p.Ser202Ala,ENST00000369124,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000479194,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000485470,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;PLEKHO1,upstream_gene_variant,,ENST00000502767,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	882	116	151	SUCCESS
CA14	23632	.	GRCh37	1	150234003	150234003	+	synonymous_variant	Silent	SNP	C	C	A	rs373006346	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	70	0	ENST00000369111.4:c.222C>A	p.Thr74=	p.T74=	ENST00000369111	NM_012113.1	74	acC/acA	0	T:0	.	.	.	.	A	T	protein_coding	YES	CCDS947.1	222	MUTECT|MUSE	.	GGCACCGAGCC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF84,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	T:0.0001	ENSP00000358107	.	3/11	.	.	.	.	.	.	.	.	rs373006346	3/11	PASS	ENST00000369111	Transcript	.	.	ENSG00000118298	1372	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAH14_HUMAN	CA14	HGNC	A8K3J4_HUMAN	.	UPI00000389EA	SNV	CA14,synonymous_variant,p.%3D,ENST00000369111,;APH1A,downstream_gene_variant,,ENST00000360244,;APH1A,downstream_gene_variant,,ENST00000414276,;CA14,upstream_gene_variant,,ENST00000607082,;APH1A,downstream_gene_variant,,ENST00000369109,;snoU13,upstream_gene_variant,,ENST00000458929,;RP4-790G17.7,upstream_gene_variant,,ENST00000607002,;APH1A,downstream_gene_variant,,ENST00000461320,;CA14,3_prime_UTR_variant,,ENST00000483993,;CA14,non_coding_transcript_exon_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000607751,;	1192	70	95	SUCCESS
RPRD2	23248	.	GRCh37	1	150444476	150444476	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746718220	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	233	29	190	0	ENST00000369068.4:c.3052C>T	p.Arg1018Cys	p.R1018C	ENST00000369068	NM_015203.3	1018	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS44216.1	3052	RADIA|MUTECT|MUSE|VARSCANS	.	CCTCACGTAAG	NONE	.	.	hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0	.	.	ENSP00000358064	.	11/11	.	.	.	.	.	.	.	.	rs746718220	11/11	PASS	ENST00000369068	Transcript	.	.	ENSG00000163125	29039	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	RPRD2_HUMAN	RPRD2	HGNC	.	.	UPI00001D7CA8	SNV	RPRD2,missense_variant,p.Arg1018Cys,ENST00000369068,;RPRD2,missense_variant,p.Arg992Cys,ENST00000401000,;RPRD2,3_prime_UTR_variant,,ENST00000539519,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	3056	190	262	SUCCESS
HRNR	388697	.	GRCh37	1	152191050	152191050	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150117899	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	43	133	0	ENST00000368801.2:c.3055G>A	p.Gly1019Arg	p.G1019R	ENST00000368801	NM_001009931.2	1019	Ggg/Agg	0	T:0.0002	T:0	.	T:0	.	T	G/R	protein_coding	YES	CCDS30859.1	3055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGGAAC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	T:0	T:0.001	ENSP00000357791	T:0	3/3	.	.	.	.	.	.	.	.	rs150117899	3/3	common_in_exac	ENST00000368801	Transcript	.	T:0.0034	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0.0174	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Gly1019Arg,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	3131	134	161	SUCCESS
KPRP	448834	.	GRCh37	1	152732288	152732288	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	42	143	0	ENST00000606109.1:c.224A>G	p.Gln75Arg	p.Q75R	ENST00000606109		75	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS30862.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCAGTCTA	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	deleterious_low_confidence(0.01)	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,missense_variant,p.Gln75Arg,ENST00000368773,;KPRP,missense_variant,p.Gln75Arg,ENST00000606109,;	282	143	216	SUCCESS
IVL	3713	.	GRCh37	1	152882316	152882316	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	24	73	0	ENST00000368764.3:c.43C>A	p.Leu15Ile	p.L15I	ENST00000368764		15	Ctc/Atc	0	.	.	.	.	.	A	L/I	protein_coding	YES	CCDS1030.1	43	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCTCAGT	NONE	.	.	hmmpanther:PTHR13905,Pfam_domain:PF10583	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.04)	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,missense_variant,p.Leu15Ile,ENST00000368764,;IVL,5_prime_UTR_variant,,ENST00000392667,;	107	73	122	SUCCESS
INTS3	65123	.	GRCh37	1	153744418	153744418	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	10	68	0	ENST00000318967.2:c.2699G>A	p.Ser900Asn	p.S900N	ENST00000318967	NM_023015.3	900	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS1052.1	2699	RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGCCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13587	.	.	ENSP00000318641	.	26/30	.	.	.	.	.	.	.	.	.	26/30	PASS	ENST00000318967	Transcript	.	.	ENSG00000143624	26153	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.25)	.	INT3_HUMAN	INTS3	HGNC	.	.	UPI0000231CA8	SNV	INTS3,missense_variant,p.Ser900Asn,ENST00000435409,;INTS3,missense_variant,p.Ser900Asn,ENST00000318967,;INTS3,missense_variant,p.Ser694Asn,ENST00000456435,;INTS3,missense_variant,p.Ser694Asn,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000458027,;SLC27A3,upstream_gene_variant,,ENST00000271857,;SLC27A3,upstream_gene_variant,,ENST00000368661,;INTS3,non_coding_transcript_exon_variant,,ENST00000476843,;SLC27A3,upstream_gene_variant,,ENST00000484014,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000368670,;INTS3,non_coding_transcript_exon_variant,,ENST00000368669,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;SLC27A3,upstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000483574,;SLC27A3,upstream_gene_variant,,ENST00000468403,;	3267	68	99	SUCCESS
SLC27A3	11000	.	GRCh37	1	153747867	153747869	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	rs1259550268	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	57	0	ENST00000368661.3:c.37_39del	p.Glu13del	p.E13del	ENST00000368661	NM_024330.1	12	aAGGag/aag	0	.	.	.	.	.	-	KE/K	protein_coding	YES	CCDS1053.1	35-37	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGGAAGGAGAAG	NONE	.	.	hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096	.	.	ENSP00000357650	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000368661	Transcript	.	.	ENSG00000143554	10997	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S27A3_HUMAN	SLC27A3	HGNC	.	.	UPI0000038E9E	deletion	SLC27A3,inframe_deletion,p.Glu94del,ENST00000271857,;SLC27A3,inframe_deletion,p.Glu13del,ENST00000368661,;SLC27A3,upstream_gene_variant,,ENST00000524676,;INTS3,downstream_gene_variant,,ENST00000435409,;INTS3,downstream_gene_variant,,ENST00000318967,;SLC27A3,upstream_gene_variant,,ENST00000458027,;SLC27A3,upstream_gene_variant,,ENST00000532853,;INTS3,downstream_gene_variant,,ENST00000512605,;INTS3,downstream_gene_variant,,ENST00000456435,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,upstream_gene_variant,,ENST00000483574,;INTS3,downstream_gene_variant,,ENST00000503133,;SLC27A3,upstream_gene_variant,,ENST00000468044,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,upstream_gene_variant,,ENST00000368659,;SLC27A3,upstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000531251,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000481797,;	100-102	57	67	SUCCESS
SLC27A3	11000	.	GRCh37	1	153750796	153750796	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs772719483	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	83	0	ENST00000368661.3:c.1462C>T	p.Arg488Trp	p.R488W	ENST00000368661	NM_024330.1	488	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS1053.1	1462	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCGGGGC	NONE	byFrequency	.	hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000357650	.	5/10	.	.	.	.	.	.	.	.	rs772719483	5/10	PASS	ENST00000368661	Transcript	.	.	ENSG00000143554	10997	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.862)	.	deleterious(0)	.	S27A3_HUMAN	SLC27A3	HGNC	.	.	UPI0000038E9E	SNV	SLC27A3,missense_variant,p.Arg193Trp,ENST00000458027,;SLC27A3,missense_variant,p.Arg42Trp,ENST00000532853,;SLC27A3,missense_variant,p.Arg569Trp,ENST00000271857,;SLC27A3,missense_variant,p.Arg488Trp,ENST00000368661,;SLC27A3,upstream_gene_variant,,ENST00000524676,;INTS3,downstream_gene_variant,,ENST00000435409,;INTS3,downstream_gene_variant,,ENST00000318967,;INTS3,downstream_gene_variant,,ENST00000512605,;INTS3,downstream_gene_variant,,ENST00000456435,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000483574,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000531251,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,upstream_gene_variant,,ENST00000468044,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,upstream_gene_variant,,ENST00000368659,;SLC27A3,downstream_gene_variant,,ENST00000461269,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000481797,;	1527	83	53	SUCCESS
SHC1	6464	.	GRCh37	1	154942720	154942720	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	241	30	189	0	ENST00000368445.5:c.283G>A	p.Val95Ile	p.V95I	ENST00000368445	NM_183001.4	95	Gta/Ata	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS44233.1	283	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTACGATCC	NONE	.	.	hmmpanther:PTHR10337:SF2,hmmpanther:PTHR10337	.	.	ENSP00000401303	.	1/12	.	.	.	.	.	.	.	.	COSM1470076	1/12	PASS	ENST00000448116	Transcript	.	.	ENSG00000160691	10840	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.019)	.	tolerated(0.34)	1	SHC1_HUMAN	SHC1	HGNC	Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN,B4DL02_HUMAN	.	UPI00002048B4	SNV	SHC1,missense_variant,p.Val95Ile,ENST00000448116,;SHC1,missense_variant,p.Val95Ile,ENST00000368445,;SHC1,intron_variant,,ENST00000368453,;SHC1,intron_variant,,ENST00000412170,;SHC1,intron_variant,,ENST00000368449,;SHC1,intron_variant,,ENST00000606391,;SHC1,intron_variant,,ENST00000366442,;SHC1,intron_variant,,ENST00000368450,;SHC1,upstream_gene_variant,,ENST00000444664,;CKS1B,upstream_gene_variant,,ENST00000308987,;SHC1,upstream_gene_variant,,ENST00000444179,;CKS1B,upstream_gene_variant,,ENST00000368436,;CKS1B,upstream_gene_variant,,ENST00000368439,;SHC1,upstream_gene_variant,,ENST00000414115,;SHC1,upstream_gene_variant,,ENST00000490667,;CKS1B,upstream_gene_variant,,ENST00000477676,;	504	189	271	SUCCESS
TMEM51	55092	.	GRCh37	1	15541785	15541785	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759766365	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	56	0	ENST00000376008.2:c.202G>A	p.Val68Met	p.V68M	ENST00000376008		68	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS154.1	202	RADIA|MUTECT|MUSE|VARSCANS	.	CCTACGTGCTG	NONE	.	.	Pfam_domain:PF15345,hmmpanther:PTHR16015,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000394899	.	2/3	.	.	.	.	.	.	.	.	rs759766365	2/3	PASS	ENST00000428417	Transcript	.	.	ENSG00000171729	25488	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TMM51_HUMAN	TMEM51	HGNC	B1AP03_HUMAN	.	UPI0000073712	SNV	TMEM51,missense_variant,p.Val68Met,ENST00000434578,;TMEM51,missense_variant,p.Val68Met,ENST00000400796,;TMEM51,missense_variant,p.Val68Met,ENST00000376014,;TMEM51,missense_variant,p.Val68Met,ENST00000376008,;TMEM51,missense_variant,p.Val68Met,ENST00000451326,;TMEM51,missense_variant,p.Val68Met,ENST00000428417,;	648	56	46	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155922509	155922509	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	37	171	0	ENST00000361247.4:c.1894G>A	p.Ala632Thr	p.A632T	ENST00000361247	NM_001162384.1	632	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS53376.1	1894	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCATCC	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14	.	.	ENSP00000354837	.	15/22	.	.	.	.	.	.	.	.	COSM1733439	15/22	PASS	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	tolerated(0.61)	1	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	SNV	ARHGEF2,missense_variant,p.Ala632Thr,ENST00000361247,;ARHGEF2,missense_variant,p.Ala633Thr,ENST00000368315,;ARHGEF2,missense_variant,p.Ala604Thr,ENST00000313695,;ARHGEF2,missense_variant,p.Ala604Thr,ENST00000368316,;ARHGEF2,missense_variant,p.Ala631Thr,ENST00000313667,;ARHGEF2,missense_variant,p.Ala677Thr,ENST00000462460,;ARHGEF2,upstream_gene_variant,,ENST00000470541,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000474428,;ARHGEF2,downstream_gene_variant,,ENST00000470975,;	1994	171	210	SUCCESS
MIB2	142678	.	GRCh37	1	1565676	1565676	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	29	0	ENST00000505820.2:c.2979C>T	p.Gly993=	p.G993=	ENST00000505820		993	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS41224.2	2979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGGCTCTGA	NONE	.	.	hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202	.	.	ENSP00000426103	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,missense_variant,p.Leu753Phe,ENST00000378712,;MIB2,synonymous_variant,p.%3D,ENST00000355826,;MIB2,synonymous_variant,p.%3D,ENST00000514234,;MIB2,synonymous_variant,p.%3D,ENST00000378708,;MIB2,synonymous_variant,p.%3D,ENST00000360522,;MIB2,synonymous_variant,p.%3D,ENST00000504599,;MIB2,synonymous_variant,p.%3D,ENST00000518681,;MIB2,synonymous_variant,p.%3D,ENST00000483015,;MIB2,synonymous_variant,p.%3D,ENST00000520777,;MIB2,synonymous_variant,p.%3D,ENST00000505820,;MIB2,synonymous_variant,p.%3D,ENST00000357210,;MIB2,synonymous_variant,p.%3D,ENST00000378710,;MMP23B,upstream_gene_variant,,ENST00000356026,;MMP23B,upstream_gene_variant,,ENST00000435358,;MMP23B,upstream_gene_variant,,ENST00000472264,;CDK11B,downstream_gene_variant,,ENST00000513088,;MMP23B,upstream_gene_variant,,ENST00000479814,;MMP23B,upstream_gene_variant,,ENST00000378675,;MMP23B,upstream_gene_variant,,ENST00000503792,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,3_prime_UTR_variant,,ENST00000487053,;MIB2,non_coding_transcript_exon_variant,,ENST00000470373,;MIB2,non_coding_transcript_exon_variant,,ENST00000511910,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000473511,;MIB2,downstream_gene_variant,,ENST00000505370,;MMP23B,upstream_gene_variant,,ENST00000486400,;MMP23B,upstream_gene_variant,,ENST00000490017,;MMP23B,upstream_gene_variant,,ENST00000489782,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000507229,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000464570,;	2996	29	20	SUCCESS
NES	10763	.	GRCh37	1	156640020	156640020	+	synonymous_variant	Silent	SNP	C	C	T	rs1255707363	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	5	43	0	ENST00000368223.3:c.3960G>A	p.Arg1320=	p.R1320=	ENST00000368223	NM_006617.1	1320	agG/agA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS1151.1	3960	MUTECT|MUSE	.	GGTGGCCTCTG	NONE	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	SNV	NES,synonymous_variant,p.%3D,ENST00000368223,;	4093	43	88	SUCCESS
NES	10763	.	GRCh37	1	156642804	156642804	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs759081520	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	35	73	0	ENST00000368223.3:c.1176del	p.Thr393HisfsTer9	p.T393Hfs*9	ENST00000368223	NM_006617.1	392	ccC/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS1151.1	1176	VARSCANI*|PINDEL	.	AGGTGTGGGGGG	SITE|p.T393fs*9|c.1176delC|6	.	.	hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239,Low_complexity_(Seg):seg	.	.	ENSP00000357206	.	4/4	.	.	.	.	.	.	.	.	rs759081520,COSM1334916	4/4	PASS	ENST00000368223	Transcript	.	.	ENSG00000132688	7756	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	NEST_HUMAN	NES	HGNC	Q2YDX4_HUMAN	.	UPI0000213DC0	deletion	NES,frameshift_variant,p.Thr393HisfsTer9,ENST00000368223,;	1309	73	151	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156911758	156911758	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs527422829	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	30	92	0	ENST00000361409.2:c.3230C>T	p.Ala1077Val	p.A1077V	ENST00000361409	NM_014784.3	1077	gCc/gTc	0	.	A:0	.	A:0	.	A	A/V	protein_coding	YES	CCDS1163.1	3350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACGGCCTCT	NONE	by1000G	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	A:0.001	.	ENSP00000357177	A:0	34/41	.	.	.	.	.	.	.	.	rs527422829	34/41	PASS	ENST00000368194	Transcript	.	A:0.0002	ENSG00000132694	14580	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	A:0	deleterious(0.01)	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,missense_variant,p.Ala1077Val,ENST00000361409,;ARHGEF11,missense_variant,p.Ala493Val,ENST00000315174,;ARHGEF11,missense_variant,p.Ala1117Val,ENST00000368194,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000492592,;ARHGEF11,downstream_gene_variant,,ENST00000461678,;	4390	92	130	SUCCESS
AIM2	9447	.	GRCh37	1	159033322	159033322	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs752653022	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	113	34	95	0	ENST00000368130.4:c.959del	p.Asn320MetfsTer7	p.N320Mfs*7	ENST00000368130	NM_004833.1	320	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS1181.1	959	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTCCATTTTTT	NONE	.	.	PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF17,Gene3D:2.40.50.140,Superfamily_domains:SSF159141	.	.	ENSP00000357112	.	5/6	.	.	.	.	.	.	.	.	rs752653022,COSM1335314	5/6	PASS	ENST00000368130	Transcript	.	.	ENSG00000163568	357	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	AIM2_HUMAN	AIM2	HGNC	Q5T3W0_HUMAN,Q5T3V8_HUMAN	.	UPI000012573B	deletion	AIM2,frameshift_variant,p.Asn320MetfsTer7,ENST00000368130,;AIM2,downstream_gene_variant,,ENST00000368129,;AL359753.1,downstream_gene_variant,,ENST00000582922,;AIM2,non_coding_transcript_exon_variant,,ENST00000481829,;AIM2,downstream_gene_variant,,ENST00000411768,;	1248	95	147	SUCCESS
IGSF9	57549	.	GRCh37	1	159901663	159901663	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376059608	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	50	0	ENST00000368094.1:c.1301G>A	p.Arg434Gln	p.R434Q	ENST00000368094	NM_001135050.1	434	cGg/cAg	0	T:0.0002	.	.	.	.	T	R/Q	protein_coding	YES	CCDS44254.1	1301	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCCGCCCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF534,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	T:0.0001	ENSP00000357073	.	11/21	.	.	.	.	.	.	.	.	rs376059608,COSM3802445,COSM3802444	11/21	PASS	ENST00000368094	Transcript	.	.	ENSG00000085552	18132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.849)	.	deleterious(0.01)	0,1,1	TUTLA_HUMAN	IGSF9	HGNC	Q6XYD8_HUMAN	.	UPI000004A10B	SNV	IGSF9,missense_variant,p.Arg434Gln,ENST00000368094,;IGSF9,missense_variant,p.Arg418Gln,ENST00000361509,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,non_coding_transcript_exon_variant,,ENST00000493195,;IGSF9,non_coding_transcript_exon_variant,,ENST00000496645,;	1499	50	61	SUCCESS
IGSF8	93185	.	GRCh37	1	160062224	160062224	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs774161453	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	40	95	0	ENST00000314485.7:c.1574G>A	p.Arg525Gln	p.R525Q	ENST00000314485	NM_052868.4	525	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1195.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCGGGGC	NONE	.	.	hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000357065	.	5/7	.	.	.	.	.	.	.	.	rs774161453	5/7	PASS	ENST00000368086	Transcript	.	.	ENSG00000162729	17813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	tolerated(0.84)	.	IGSF8_HUMAN	IGSF8	HGNC	C9J8Z4_HUMAN	.	UPI0000073CBA	SNV	IGSF8,missense_variant,p.Arg525Gln,ENST00000314485,;IGSF8,missense_variant,p.Arg525Gln,ENST00000368086,;KCNJ9,downstream_gene_variant,,ENST00000368088,;IGSF8,downstream_gene_variant,,ENST00000448417,;IGSF8,downstream_gene_variant,,ENST00000460351,;	1791	95	137	SUCCESS
USP21	27005	.	GRCh37	1	161130285	161130285	+	intron_variant	Intron	SNP	G	G	T	rs552527785	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	50	0	ENST00000289865.8:c.-21-125G>T		p.*7*	ENST00000289865	NM_012475.4			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS30920.1	.	MUTECT|MUSE	.	GGACAGCAAGA	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000356981	A:0	2/14	.	.	.	.	.	.	.	.	rs552527785	2/14	PASS	ENST00000368002	Transcript	.	A:0.0006	ENSG00000143258	12620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0031	.	.	UBP21_HUMAN	USP21	HGNC	.	.	UPI00001379FD	SNV	USP21,5_prime_UTR_variant,,ENST00000368002,;USP21,5_prime_UTR_variant,,ENST00000492950,;USP21,5_prime_UTR_variant,,ENST00000479344,;USP21,intron_variant,,ENST00000289865,;USP21,intron_variant,,ENST00000368001,;UFC1,downstream_gene_variant,,ENST00000368003,;RP11-297K8.2,upstream_gene_variant,,ENST00000420498,;UFC1,downstream_gene_variant,,ENST00000473766,;UFC1,downstream_gene_variant,,ENST00000483191,;UFC1,downstream_gene_variant,,ENST00000482672,;UFC1,downstream_gene_variant,,ENST00000467540,;USP21,upstream_gene_variant,,ENST00000486299,;UFC1,downstream_gene_variant,,ENST00000463735,;USP21,upstream_gene_variant,,ENST00000493054,;USP21,upstream_gene_variant,,ENST00000482385,;USP21,upstream_gene_variant,,ENST00000485277,;USP21,upstream_gene_variant,,ENST00000487163,;	345	50	60	SUCCESS
FCER1G	2207	.	GRCh37	1	161188700	161188700	+	synonymous_variant	Silent	SNP	C	C	T	rs745961564	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	20	105	0	ENST00000289902.1:c.228C>T	p.Tyr76=	p.Y76=	ENST00000289902	NM_004106.1	76	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS1225.1	228	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACGAGAC	NONE	.	.	SMART_domains:SM00077,Pfam_domain:PF02189,hmmpanther:PTHR16803,PROSITE_profiles:PS51055	.	.	ENSP00000289902	.	5/5	.	.	.	.	.	.	.	.	rs745961564	5/5	PASS	ENST00000289902	Transcript	.	.	ENSG00000158869	3611	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FCERG_HUMAN	FCER1G	HGNC	.	.	UPI0000052756	SNV	FCER1G,synonymous_variant,p.%3D,ENST00000289902,;FCER1G,intron_variant,,ENST00000367992,;APOA2,downstream_gene_variant,,ENST00000470459,;NDUFS2,downstream_gene_variant,,ENST00000392179,;APOA2,downstream_gene_variant,,ENST00000463273,;NDUFS2,downstream_gene_variant,,ENST00000367993,;APOA2,downstream_gene_variant,,ENST00000464492,;AL590714.1,upstream_gene_variant,,ENST00000594609,;APOA2,downstream_gene_variant,,ENST00000367990,;APOA2,downstream_gene_variant,,ENST00000468465,;APOA2,downstream_gene_variant,,ENST00000469730,;APOA2,downstream_gene_variant,,ENST00000463812,;APOA2,downstream_gene_variant,,ENST00000491350,;FCER1G,non_coding_transcript_exon_variant,,ENST00000490414,;NDUFS2,downstream_gene_variant,,ENST00000468828,;NDUFS2,downstream_gene_variant,,ENST00000492153,;NDUFS2,downstream_gene_variant,,ENST00000483804,;NDUFS2,downstream_gene_variant,,ENST00000493849,;NDUFS2,downstream_gene_variant,,ENST00000465923,;APOA2,downstream_gene_variant,,ENST00000481511,;APOA2,downstream_gene_variant,,ENST00000481413,;	253	105	142	SUCCESS
SPEN	23013	.	GRCh37	1	16255142	16255143	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	rs764595221	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	123	0	ENST00000375759.3:c.2417_2418del	p.Arg806ThrfsTer14	p.R806Tfs*14	ENST00000375759	NM_015001.2	803	GAg/g	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS164.1	2407-2408	INDELOCATOR|VARSCANI	.	AGAGTGGAGAGAG	NONE	byFrequency	.	hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	.	.	ENSP00000364912	.	11/15	.	.	.	.	.	.	.	.	rs764595221,COSM898720	11/15	PASS	ENST00000375759	Transcript	.	.	ENSG00000065526	17575	10	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	MINT_HUMAN	SPEN	HGNC	.	.	UPI000006FF0C	deletion	SPEN,frameshift_variant,p.Arg806ThrfsTer14,ENST00000375759,;	2611-2612	123	112	SUCCESS
ILDR2	387597	.	GRCh37	1	166890453	166890453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	33	0	ENST00000271417.3:c.1375C>T	p.Arg459Cys	p.R459C	ENST00000271417	NM_199351.2	459	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS1256.1	1375	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGAGCGCTCGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0	.	.	ENSP00000271417	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000271417	Transcript	.	.	ENSG00000143195	18131	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.694)	.	deleterious(0)	.	ILDR2_HUMAN	ILDR2	HGNC	.	.	UPI00002317DF	SNV	ILDR2,missense_variant,p.Arg351Cys,ENST00000526687,;ILDR2,missense_variant,p.Arg459Cys,ENST00000271417,;ILDR2,missense_variant,p.Arg332Cys,ENST00000525740,;ILDR2,missense_variant,p.Arg440Cys,ENST00000529071,;ILDR2,missense_variant,p.Arg400Cys,ENST00000528703,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,intron_variant,,ENST00000469934,;	1431	33	73	SUCCESS
ASTN1	460	.	GRCh37	1	176926868	176926868	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	30	171	0	ENST00000361833.2:c.1833C>T	p.Cys611=	p.C611=	ENST00000361833		611	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS1319.1	1833	RADIA|MUTECT|MUSE|VARSCANS	.	TTACTGCAGCC	BUFFER|p.N608N|c.1824C>T|3	.	.	SMART_domains:SM00181,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8	.	.	ENSP00000354536	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000361833	Transcript	.	.	ENSG00000152092	773	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ASTN1_HUMAN	ASTN1	HGNC	Q96BL7_HUMAN	.	UPI0000160388	SNV	ASTN1,synonymous_variant,p.%3D,ENST00000367654,;ASTN1,synonymous_variant,p.%3D,ENST00000424564,;ASTN1,synonymous_variant,p.%3D,ENST00000361833,;ASTN1,synonymous_variant,p.%3D,ENST00000367657,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	1847	171	241	SUCCESS
SEC16B	89866	.	GRCh37	1	177902746	177902746	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1222858082	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	14	78	0	ENST00000308284.6:c.2597G>A	p.Ser866Asn	p.S866N	ENST00000308284	NM_033127.2	866	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS44281.1	2597	RADIA|MUTECT|MUSE	.	AAATACTTCGT	NONE	.	.	hmmpanther:PTHR13402:SF8,hmmpanther:PTHR13402	.	.	ENSP00000308339	.	21/26	.	.	.	.	.	.	.	.	.	21/26	PASS	ENST00000308284	Transcript	.	.	ENSG00000120341	30301	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.002)	.	tolerated(0.27)	.	SC16B_HUMAN	SEC16B	HGNC	.	.	UPI0000203C4D	SNV	SEC16B,missense_variant,p.Ser866Asn,ENST00000308284,;SEC16B,non_coding_transcript_exon_variant,,ENST00000327037,;SEC16B,non_coding_transcript_exon_variant,,ENST00000495165,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,3_prime_UTR_variant,,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;	2687	78	83	SUCCESS
TOR3A	64222	.	GRCh37	1	179054904	179054904	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	29	83	0	ENST00000367627.3:c.515G>A	p.Gly172Asp	p.G172D	ENST00000367627	NM_022371.3	172	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS1329.1	515	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGCAAGA	NONE	.	.	hmmpanther:PTHR10760,hmmpanther:PTHR10760:SF3,Pfam_domain:PF06309,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000356599	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000367627	Transcript	.	.	ENSG00000186283	11997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TOR3A_HUMAN	TOR3A	HGNC	.	.	UPI000006F204	SNV	TOR3A,missense_variant,p.Gly64Asp,ENST00000447595,;TOR3A,missense_variant,p.Gly172Asp,ENST00000367627,;TOR3A,missense_variant,p.Gly125Asp,ENST00000367625,;TOR3A,missense_variant,p.Gly172Asp,ENST00000352445,;TOR3A,intron_variant,,ENST00000472001,;TOR3A,upstream_gene_variant,,ENST00000495145,;TOR3A,3_prime_UTR_variant,,ENST00000483887,;	1267	83	87	SUCCESS
TDRD5	163589	.	GRCh37	1	179609580	179609580	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	13	73	0	ENST00000294848.8:c.1800G>T	p.Glu600Asp	p.E600D	ENST00000294848	NM_173533.3	600	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS55663.1	1800	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGAGGTATG	NONE	.	.	hmmpanther:PTHR22948	.	.	ENSP00000406052	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000444136	Transcript	.	.	ENSG00000162782	20614	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.236)	.	deleterious(0.04)	.	TDRD5_HUMAN	TDRD5	HGNC	.	.	UPI000022AC96	SNV	TDRD5,missense_variant,p.Glu600Asp,ENST00000367614,;TDRD5,missense_variant,p.Glu56Asp,ENST00000417329,;TDRD5,missense_variant,p.Glu600Asp,ENST00000444136,;TDRD5,missense_variant,p.Glu600Asp,ENST00000294848,;	2050	73	115	SUCCESS
HMCN1	83872	.	GRCh37	1	186076037	186076037	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	17	81	0	ENST00000271588.4:c.10792A>G	p.Thr3598Ala	p.T3598A	ENST00000271588	NM_031935.2	3598	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS30956.1	10792	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATACATGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	70/107	.	.	.	.	.	.	.	.	COSM77857	70/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.994)	.	.	1	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,missense_variant,p.Thr3598Ala,ENST00000367492,;HMCN1,missense_variant,p.Thr3598Ala,ENST00000271588,;	11021	81	114	SUCCESS
HMCN1	83872	.	GRCh37	1	186135392	186135392	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	73	0	ENST00000271588.4:c.15396C>A	p.Cys5132Ter	p.C5132*	ENST00000271588	NM_031935.2	5132	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS30956.1	15396	MUTECT|MUSE|VARSCANS	.	TCCTGCCCTAA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	.	.	ENSP00000271588	.	99/107	.	.	.	.	.	.	.	.	.	99/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,stop_gained,p.Cys5132Ter,ENST00000367492,;HMCN1,stop_gained,p.Cys5132Ter,ENST00000271588,;HMCN1,intron_variant,,ENST00000475585,;	15625	73	88	SUCCESS
KCNT2	343450	.	GRCh37	1	196274397	196274397	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	7	78	0	ENST00000294725.9:c.2562C>A	p.Asp854Glu	p.D854E	ENST00000294725		854	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS1384.1	2562	MUTECT|MUSE	.	TAACAGTCTTT	NONE	.	.	hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9	.	.	ENSP00000294725	.	22/28	.	.	.	.	.	.	.	.	.	22/28	PASS	ENST00000294725	Transcript	.	.	ENSG00000162687	18866	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.138)	.	deleterious(0.02)	.	KCNT2_HUMAN	KCNT2	HGNC	A9LNM6_HUMAN	.	UPI00001E0966	SNV	KCNT2,missense_variant,p.Asp780Glu,ENST00000609185,;KCNT2,missense_variant,p.Asp854Glu,ENST00000294725,;KCNT2,missense_variant,p.Asp830Glu,ENST00000367433,;KCNT2,missense_variant,p.Asp780Glu,ENST00000367431,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;	3478	78	124	SUCCESS
DENND1B	163486	.	GRCh37	1	197704811	197704811	+	intron_variant	Intron	SNP	G	G	A	rs1249578763	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	15	61	0	ENST00000367396.3:c.83-20607C>T		p.*28*	ENST00000367396	NM_144977.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41452.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGGACAC	NONE	.	.	.	.	.	ENSP00000356366	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367396	Transcript	.	.	ENSG00000213047	28404	.	.	MODIFIER	2/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN1B_HUMAN	DENND1B	HGNC	.	.	UPI0000227E74	SNV	DENND1B,5_prime_UTR_variant,,ENST00000235453,;DENND1B,intron_variant,,ENST00000422998,;DENND1B,intron_variant,,ENST00000367396,;DENND1B,upstream_gene_variant,,ENST00000400967,;DENND1B,non_coding_transcript_exon_variant,,ENST00000477581,;DENND1B,upstream_gene_variant,,ENST00000294738,;DENND1B,non_coding_transcript_exon_variant,,ENST00000495550,;DENND1B,non_coding_transcript_exon_variant,,ENST00000468589,;DENND1B,intron_variant,,ENST00000294737,;RP11-448G4.2,non_coding_transcript_exon_variant,,ENST00000447479,;	.	61	80	SUCCESS
KIF14	9928	.	GRCh37	1	200586864	200586864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs116130210	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	22	134	0	ENST00000367350.4:c.988G>A	p.Ala330Thr	p.A330T	ENST00000367350	NM_014875.2	330	Gca/Aca	0	T:0.0011	T:0.0008	.	T:0	.	T	A/T	protein_coding	YES	CCDS30963.1	988	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGCGGATC	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000356319	T:0	2/30	.	.	.	.	.	.	.	.	rs116130210,COSM901954	2/30	PASS	ENST00000367350	Transcript	.	T:0.0002	ENSG00000118193	19181	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.067)	T:0	tolerated(0.59)	0,1	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,missense_variant,p.Ala330Thr,ENST00000367350,;	1427	134	175	SUCCESS
ELF3	1999	.	GRCh37	1	201982384	201982385	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	250	27	213	0	ENST00000359651.3:c.764_765del	p.Lys255ArgfsTer45	p.K255Rfs*45	ENST00000359651		255	AAa/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS1419.1	763-764	INDELOCATOR|VARSCANI	.	CTGAGCAAAGAGT	NONE	.	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF13,Superfamily_domains:SSF46785	.	.	ENSP00000352673	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000359651	Transcript	.	.	ENSG00000163435	3318	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELF3_HUMAN	ELF3	HGNC	.	.	UPI0000034E32	deletion	ELF3,frameshift_variant,p.Lys255ArgfsTer45,ENST00000367284,;ELF3,frameshift_variant,p.Lys255ArgfsTer45,ENST00000359651,;ELF3,frameshift_variant,p.Lys255ArgfsTer45,ENST00000367283,;ELF3,downstream_gene_variant,,ENST00000446188,;RP11-510N19.5,intron_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000490203,;ELF3,non_coding_transcript_exon_variant,,ENST00000470384,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,downstream_gene_variant,,ENST00000479874,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,downstream_gene_variant,,ENST00000495848,;	3955-3956	213	278	SUCCESS
PM20D1	148811	.	GRCh37	1	205813295	205813295	+	synonymous_variant	Silent	SNP	G	G	A	rs144962279	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	218	110	243	0	ENST00000367136.4:c.627C>T	p.Gly209=	p.G209=	ENST00000367136	NM_152491.4	209	ggC/ggT	0	A:0.0009	.	.	.	.	A	G	protein_coding	YES	CCDS1460.1	627	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACGCCCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11014:SF66,hmmpanther:PTHR11014,Pfam_domain:PF01546,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	.	A:0	ENSP00000356104	.	5/13	.	.	.	.	.	.	.	.	rs144962279	5/13	PASS	ENST00000367136	Transcript	.	.	ENSG00000162877	26518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P20D1_HUMAN	PM20D1	HGNC	.	.	UPI00003665FD	SNV	PM20D1,synonymous_variant,p.%3D,ENST00000367136,;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,upstream_gene_variant,,ENST00000461807,;	672	243	329	SUCCESS
SRGAP2	23380	.	GRCh37	1	206634603	206634603	+	synonymous_variant	Silent	SNP	C	C	T	rs1432374451	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	216	86	197	0	ENST00000295713.5:c.2796C>T	p.Ile932=	p.I932=	ENST00000295713		932	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	.	2796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCGCCTG	NONE	.	.	hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166	.	.	ENSP00000295713	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000295713	Transcript	.	.	ENSG00000163486	19751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SRGAP2	HGNC	Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN	.	UPI000059D0A5	SNV	SRGAP2,synonymous_variant,p.%3D,ENST00000414007,;SRGAP2,synonymous_variant,p.%3D,ENST00000295713,;SRGAP2,downstream_gene_variant,,ENST00000419187,;SRGAP2,downstream_gene_variant,,ENST00000426388,;	2794	197	303	SUCCESS
CD55	1604	.	GRCh37	1	207495135	207495135	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	36	0	ENST00000367064.3:c.25C>T	p.Pro9Ser	p.P9S	ENST00000367064	NM_000574.3	9	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44307.1	25	RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCCCGCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000316333	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000314754	Transcript	.	.	ENSG00000196352	2665	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.932)	.	deleterious_low_confidence(0)	.	DAF_HUMAN	CD55	HGNC	Q76N74_HUMAN	.	UPI000002EA80	SNV	CD55,missense_variant,p.Pro9Ser,ENST00000367067,;CD55,missense_variant,p.Pro9Ser,ENST00000367064,;CD55,missense_variant,p.Pro9Ser,ENST00000391921,;CD55,missense_variant,p.Pro9Ser,ENST00000367062,;CD55,missense_variant,p.Pro9Ser,ENST00000314754,;CD55,missense_variant,p.Pro9Ser,ENST00000367065,;CD55,missense_variant,p.Pro9Ser,ENST00000367063,;CD55,missense_variant,p.Pro9Ser,ENST00000391920,;CD55,upstream_gene_variant,,ENST00000343420,;CD55,upstream_gene_variant,,ENST00000465534,;CD55,missense_variant,p.Pro9Ser,ENST00000482390,;CD55,non_coding_transcript_exon_variant,,ENST00000488171,;CD55,upstream_gene_variant,,ENST00000476590,;	90	36	72	SUCCESS
CENPF	1063	.	GRCh37	1	214822084	214822084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	40	157	1	ENST00000366955.3:c.7897G>A	p.Ala2633Thr	p.A2633T	ENST00000366955	NM_016343.3	2633	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31023.1	7897	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGCAGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Ala2633Thr,ENST00000366955,;CENPF,non_coding_transcript_exon_variant,,ENST00000467765,;	8065	158	177	SUCCESS
USH2A	7399	.	GRCh37	1	216062118	216062118	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	20	110	0	ENST00000307340.3:c.7873del	p.Glu2625LysfsTer16	p.E2625Kfs*16	ENST00000307340	NM_206933.2	2625	Gaa/aa	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS31025.1	7873	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCCTTCCGGTG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	.	.	ENSP00000305941	.	41/72	.	.	.	.	.	.	.	.	.	41/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	deletion	USH2A,frameshift_variant,p.Glu2625LysfsTer16,ENST00000366943,;USH2A,frameshift_variant,p.Glu2625LysfsTer16,ENST00000307340,;RP5-1111A8.3,intron_variant,,ENST00000414995,;	8260	110	181	SUCCESS
GPATCH2	55105	.	GRCh37	1	217784290	217784290	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	16	104	0	ENST00000366935.3:c.959C>A	p.Pro320His	p.P320H	ENST00000366935	NM_018040.2	320	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS1518.1	959	RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGGATCT	NONE	.	.	hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4	.	.	ENSP00000355902	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000366935	Transcript	.	.	ENSG00000092978	25499	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GPTC2_HUMAN	GPATCH2	HGNC	.	.	UPI000004A012	SNV	GPATCH2,missense_variant,p.Pro320His,ENST00000366935,;GPATCH2,missense_variant,p.Pro320His,ENST00000366934,;GPATCH2,upstream_gene_variant,,ENST00000485274,;GPATCH2,upstream_gene_variant,,ENST00000470014,;	1070	104	131	SUCCESS
RAB3GAP2	25782	.	GRCh37	1	220330778	220330778	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369410531	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	26	136	0	ENST00000358951.2:c.3389C>T	p.Ala1130Val	p.A1130V	ENST00000358951	NM_012414.3	1130	gCg/gTg	0	A:0.0002	.	.	.	.	A	A/V	protein_coding	YES	CCDS31028.1	3389	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGCATCC	NONE	byFrequency|byCluster	.	Pfam_domain:PF14656,hmmpanther:PTHR12472	.	A:0	ENSP00000351832	.	31/35	.	.	.	.	.	.	.	.	rs369410531,COSM1222937	31/35	PASS	ENST00000358951	Transcript	.	.	ENSG00000118873	17168	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.049)	.	tolerated(1)	0,1	RBGPR_HUMAN	RAB3GAP2	HGNC	.	.	UPI0000072269	SNV	RAB3GAP2,missense_variant,p.Ala1130Val,ENST00000358951,;RAB3GAP2,upstream_gene_variant,,ENST00000474966,;RAB3GAP2,upstream_gene_variant,,ENST00000491305,;RAB3GAP2,upstream_gene_variant,,ENST00000491005,;	3506	136	177	SUCCESS
HHIPL2	79802	.	GRCh37	1	222721145	222721145	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs377410734	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	14	123	0	ENST00000343410.6:c.242G>A	p.Arg81Gln	p.R81Q	ENST00000343410	NM_024746.3	81	cGg/cAg	0	G:0.0003	.	.	.	.	T	R/Q	protein_coding	YES	CCDS1530.2	242	MUTECT|MUSE|VARSCANS	.	AGTACCGGGCA	NONE	byFrequency|byCluster	.	Pfam_domain:PF03024,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	.	G:0	ENSP00000342118	.	1/9	.	.	.	.	.	.	.	.	rs377410734	1/9	PASS	ENST00000343410	Transcript	.	.	ENSG00000143512	25842	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.319)	.	tolerated(0.09)	.	HIPL2_HUMAN	HHIPL2	HGNC	.	.	UPI000004C60D	SNV	HHIPL2,missense_variant,p.Arg81Gln,ENST00000343410,;	301	123	161	SUCCESS
BROX	148362	.	GRCh37	1	222898866	222898866	+	synonymous_variant	Silent	SNP	C	C	T	rs368189414	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	382	41	296	1	ENST00000340934.5:c.549C>T	p.Tyr183=	p.Y183=	ENST00000340934	NM_144695.2	183	taC/taT	0	T:0	.	.	.	.	T	Y	protein_coding	YES	CCDS1534.1	549	RADIA|MUTECT|MUSE|VARSCANS	.	GCATACGTTAT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51180,hmmpanther:PTHR23032,Gene3D:2xs1A01,Pfam_domain:PF03097,SMART_domains:SM01041	.	T:0.0001	ENSP00000343742	.	7/13	.	.	.	.	.	.	.	.	rs368189414,COSM904326	7/13	PASS	ENST00000340934	Transcript	.	.	ENSG00000162819	26512	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	BROX_HUMAN	BROX	HGNC	Q5VW33_HUMAN	.	UPI000013E1D1	SNV	BROX,synonymous_variant,p.%3D,ENST00000537020,;BROX,synonymous_variant,p.%3D,ENST00000340934,;BROX,synonymous_variant,p.%3D,ENST00000539697,;BROX,synonymous_variant,p.%3D,ENST00000426638,;BROX,non_coding_transcript_exon_variant,,ENST00000473962,;BROX,non_coding_transcript_exon_variant,,ENST00000489191,;	955	297	423	SUCCESS
PARP1	142	.	GRCh37	1	226570848	226570848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	17	95	0	ENST00000366794.5:c.1048G>A	p.Val350Ile	p.V350I	ENST00000366794	NM_001618.3	350	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS1554.1	1048	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAACCTTCA	BUFFER|p.K352K|c.1056A>G|3	.	.	hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,PIRSF_domain:PIRSF000489	.	.	ENSP00000355759	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000366794	Transcript	.	.	ENSG00000143799	270	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(0.39)	.	PARP1_HUMAN	PARP1	HGNC	Q96P95_HUMAN	.	UPI000013D92D	SNV	PARP1,missense_variant,p.Val350Ile,ENST00000366794,;	1192	95	128	SUCCESS
OBSCN	84033	.	GRCh37	1	228547615	228547615	+	intron_variant	Intron	SNP	C	C	T	rs867970204	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	353	46	277	0	ENST00000422127.1:c.18662-2662C>T		p.*6221*	ENST00000422127	NM_001098623.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59204.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGCAGG	NONE	.	.	.	.	.	ENSP00000455507	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000570156	Transcript	.	.	ENSG00000154358	15719	.	.	MODIFIER	90/115	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	OBSCN	HGNC	H3BPX2_HUMAN	.	UPI00027FCDB5	SNV	OBSCN,missense_variant,p.Pro3460Leu,ENST00000366709,;OBSCN,missense_variant,p.Pro6341Leu,ENST00000284548,;OBSCN,3_prime_UTR_variant,,ENST00000474237,;OBSCN,intron_variant,,ENST00000366707,;OBSCN,intron_variant,,ENST00000441106,;OBSCN,intron_variant,,ENST00000422127,;OBSCN,intron_variant,,ENST00000570156,;	.	277	399	SUCCESS
ABCB10	23456	.	GRCh37	1	229666151	229666151	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	12	68	0	ENST00000344517.4:c.1440G>T	p.Gly480=	p.G480=	ENST00000344517	NM_012089.2	480	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS1580.1	1440	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACCCCCTC	NONE	.	.	hmmpanther:PTHR24221:SF121,hmmpanther:PTHR24221	.	.	ENSP00000355637	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000344517	Transcript	.	.	ENSG00000135776	41	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCBA_HUMAN	ABCB10	HGNC	Q6ZMF8_HUMAN	.	UPI000013CFBF	SNV	ABCB10,synonymous_variant,p.%3D,ENST00000344517,;RNU4-21P,downstream_gene_variant,,ENST00000362802,;ABCB10,non_coding_transcript_exon_variant,,ENST00000486755,;	1483	68	75	SUCCESS
SPRTN	83932	.	GRCh37	1	231488894	231488894	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	402	88	319	0	ENST00000295050.7:c.1263del	p.Phe421LeufsTer7	p.F421Lfs*7	ENST00000295050	NM_032018.5	419	aaT/aa	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS1594.1	1257	INDELOCATOR*|VARSCANI*|PINDEL	.	TGACAATTTTTT	NONE	.	.	hmmpanther:PTHR21220	.	.	ENSP00000295050	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000295050	Transcript	.	.	ENSG00000010072	25356	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPRTN_HUMAN	SPRTN	HGNC	L8E708_HUMAN	.	UPI000006D601	deletion	SPRTN,frameshift_variant,p.Phe421LeufsTer7,ENST00000295050,;SPRTN,downstream_gene_variant,,ENST00000008440,;SPRTN,downstream_gene_variant,,ENST00000366644,;SPRTN,downstream_gene_variant,,ENST00000391858,;SPRTN,downstream_gene_variant,,ENST00000469904,;	1593	319	490	SUCCESS
SIPA1L2	57568	.	GRCh37	1	232551325	232551325	+	synonymous_variant	Silent	SNP	G	G	A	rs143986958	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	10	95	0	ENST00000262861.4:c.4677C>T	p.Cys1559=	p.C1559=	ENST00000262861	NM_020808.3	1559	tgC/tgT	0	A:0.011	A:0.0083	.	A:0	.	A	C	protein_coding	YES	CCDS41474.1	4677	MUTECT|MUSE	.	TCTGCGCACTT	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF11881,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711	A:0	A:0	ENSP00000355589	A:0	18/22	.	.	.	.	.	.	.	.	rs143986958	18/22	common_in_exac	ENST00000366630	Transcript	.	A:0.0024	ENSG00000116991	23800	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	SI1L2_HUMAN	SIPA1L2	HGNC	.	.	UPI00001D7D6A	SNV	SIPA1L2,synonymous_variant,p.%3D,ENST00000366630,;SIPA1L2,synonymous_variant,p.%3D,ENST00000308942,;SIPA1L2,synonymous_variant,p.%3D,ENST00000262861,;SIPA1L2,non_coding_transcript_exon_variant,,ENST00000495863,;	5036	95	116	SUCCESS
FMN2	56776	.	GRCh37	1	240492397	240492397	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768348163	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	29	214	0	ENST00000319653.9:c.4237G>A	p.Glu1413Lys	p.E1413K	ENST00000319653	NM_020066.4	1413	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS31069.2	4237	MUTECT|MUSE|VARSCANS	.	AACTCGAAAAA	BUFFER|p.E1554K|c.4660G>A|6	byFrequency	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000318884	.	9/18	.	.	.	.	.	.	.	.	rs768348163,COSM3486002	9/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.667)	.	.	0,1	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Glu9Lys,ENST00000545751,;FMN2,missense_variant,p.Glu59Lys,ENST00000441342,;FMN2,missense_variant,p.Glu1413Lys,ENST00000319653,;FMN2,non_coding_transcript_exon_variant,,ENST00000463398,;	4467	214	304	SUCCESS
AHCTF1	25909	.	GRCh37	1	247024553	247024553	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	279	29	206	0	ENST00000326225.3:c.3807del	p.Lys1269AsnfsTer11	p.K1269Nfs*11	ENST00000326225	NM_015446.4	1269	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS1629.2	3807	INDELOCATOR*|VARSCANI*|PINDEL	.	TGCACATTTTTT	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	29/36	.	.	.	.	.	.	.	.	COSM906897	29/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	deletion	AHCTF1,frameshift_variant,p.Lys1260AsnfsTer11,ENST00000391829,;AHCTF1,frameshift_variant,p.Lys1295AsnfsTer11,ENST00000366508,;AHCTF1,frameshift_variant,p.Lys1269AsnfsTer11,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;	3904	206	308	SUCCESS
OR1C1	26188	.	GRCh37	1	247921056	247921056	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs546878207	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	38	122	0	ENST00000408896.2:c.653A>G	p.Tyr218Cys	p.Y218C	ENST00000408896	NM_012353.2	218	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS41481.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCATAAGAT	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF108,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000386138	.	1/1	.	.	.	.	.	.	.	.	rs546878207	1/1	common_in_exac	ENST00000408896	Transcript	.	.	ENSG00000221888	8182	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	OR1C1_HUMAN	OR1C1	HGNC	.	.	UPI000004B1DC	SNV	OR1C1,missense_variant,p.Tyr218Cys,ENST00000408896,;	927	122	154	SUCCESS
OR2T4	127074	.	GRCh37	1	248525091	248525091	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs979963875	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	502	68	430	0	ENST00000366475.1:c.209C>T	p.Ala70Val	p.A70V	ENST00000366475	NM_001004696.1	70	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS31113.1	209	RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCGTTGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000355431	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366475	Transcript	.	.	ENSG00000196944	15016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.337)	.	deleterious(0.01)	.	OR2T4_HUMAN	OR2T4	HGNC	.	.	UPI000004B9CC	SNV	OR2T4,missense_variant,p.Ala70Val,ENST00000366475,;	209	430	570	SUCCESS
C1orf63	0	.	GRCh37	1	25571731	25571731	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	59	0	ENST00000243189.7:c.582C>T	p.Asn194=	p.N194=	ENST00000243189	NM_020317.3	194	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS260.1	582	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATGTTGGT	NONE	.	.	hmmpanther:PTHR10548:SF89,hmmpanther:PTHR10548	.	.	ENSP00000243189	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000243189	Transcript	.	.	ENSG00000117616	25234	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA063_HUMAN	C1orf63	HGNC	H3BVB7_HUMAN,H3BT33_HUMAN,H3BMX3_HUMAN	.	UPI000006DFA6	SNV	C1orf63,synonymous_variant,p.%3D,ENST00000431849,;C1orf63,synonymous_variant,p.%3D,ENST00000243189,;C1orf63,synonymous_variant,p.%3D,ENST00000417642,;C1orf63,downstream_gene_variant,,ENST00000561867,;C1orf63,downstream_gene_variant,,ENST00000568996,;C1orf63,downstream_gene_variant,,ENST00000568701,;RP3-465N24.6,upstream_gene_variant,,ENST00000607698,;C1orf63,non_coding_transcript_exon_variant,,ENST00000475766,;C1orf63,upstream_gene_variant,,ENST00000564223,;C1orf63,upstream_gene_variant,,ENST00000569495,;C1orf63,synonymous_variant,p.%3D,ENST00000568254,;C1orf63,synonymous_variant,p.%3D,ENST00000566395,;C1orf63,synonymous_variant,p.%3D,ENST00000565733,;C1orf63,synonymous_variant,p.%3D,ENST00000473314,;C1orf63,non_coding_transcript_exon_variant,,ENST00000498238,;C1orf63,non_coding_transcript_exon_variant,,ENST00000568212,;C1orf63,non_coding_transcript_exon_variant,,ENST00000570063,;C1orf63,upstream_gene_variant,,ENST00000491378,;	859	59	51	SUCCESS
C1orf172	0	.	GRCh37	1	27278369	27278369	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	50	118	1	ENST00000320567.5:c.503G>A	p.Gly168Asp	p.G168D	ENST00000320567	NM_152365.2	168	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS293.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCCTTTG	NONE	.	.	Pfam_domain:PF15551	.	.	ENSP00000319179	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000320567	Transcript	.	.	ENSG00000175707	26624	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0.02)	.	CA172_HUMAN	C1orf172	HGNC	.	.	UPI00001408F3	SNV	C1orf172,missense_variant,p.Gly168Asp,ENST00000320567,;	592	119	107	SUCCESS
SLC9A1	6548	.	GRCh37	1	27440501	27440501	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	24	83	0	ENST00000263980.3:c.629C>T	p.Ala210Val	p.A210V	ENST00000263980	NM_003047.4	210	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS295.1	629	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACGGCGTAC	NONE	.	.	hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999,Prints_domain:PR01085	.	.	ENSP00000263980	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000263980	Transcript	.	.	ENSG00000090020	11071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.857)	.	deleterious(0.05)	.	SL9A1_HUMAN	SLC9A1	HGNC	B4DTZ6_HUMAN,B1ALD5_HUMAN	.	UPI000012FD1B	SNV	SLC9A1,missense_variant,p.Ala210Val,ENST00000263980,;SLC9A1,missense_variant,p.Ala210Val,ENST00000374086,;SLC9A1,intron_variant,,ENST00000545949,;SLC9A1,downstream_gene_variant,,ENST00000374084,;	1205	83	88	SUCCESS
BAI2	0	.	GRCh37	1	32202242	32202242	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	8	152	0	ENST00000373658.3:c.3062C>T	p.Ser1021Phe	p.S1021F	ENST00000373658	NM_001703.2	1021	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS346.2	3062	MUTECT|MUSE	.	GGTAGGACTGC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000362762	.	21/33	.	.	.	.	.	.	.	.	.	21/33	PASS	ENST00000373658	Transcript	.	.	ENSG00000121753	944	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	BAI2_HUMAN	BAI2	HGNC	.	.	UPI0000E2A42F	SNV	BAI2,missense_variant,p.Ser1009Phe,ENST00000398538,;BAI2,missense_variant,p.Ser1021Phe,ENST00000373658,;BAI2,missense_variant,p.Ser954Phe,ENST00000398547,;BAI2,missense_variant,p.Ser1021Phe,ENST00000527361,;BAI2,missense_variant,p.Ser969Phe,ENST00000398556,;BAI2,missense_variant,p.Ser1021Phe,ENST00000257070,;BAI2,missense_variant,p.Ser954Phe,ENST00000398542,;BAI2,missense_variant,p.Ser1021Phe,ENST00000373655,;BAI2,missense_variant,p.Ser663Phe,ENST00000440175,;BAI2,downstream_gene_variant,,ENST00000420125,;BAI2,non_coding_transcript_exon_variant,,ENST00000465256,;BAI2,upstream_gene_variant,,ENST00000484002,;BAI2,downstream_gene_variant,,ENST00000530134,;BAI2,upstream_gene_variant,,ENST00000530999,;BAI2,upstream_gene_variant,,ENST00000525655,;BAI2,downstream_gene_variant,,ENST00000466109,;	3404	152	120	SUCCESS
NDC1	55706	.	GRCh37	1	54269665	54269665	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	51	202	0	ENST00000371429.3:c.1002C>A	p.Asp334Glu	p.D334E	ENST00000371429	NM_001168551.1	334	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS583.1	1002	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGTCCTG	NONE	.	.	Pfam_domain:PF09531,hmmpanther:PTHR13269:SF6,hmmpanther:PTHR13269	.	.	ENSP00000360483	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000371429	Transcript	.	.	ENSG00000058804	25525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NDC1_HUMAN	NDC1	HGNC	G3XA81_HUMAN,B4DZG6_HUMAN	.	UPI000006D8F7	SNV	NDC1,missense_variant,p.Asp219Glu,ENST00000234725,;NDC1,missense_variant,p.Asp334Glu,ENST00000371429,;NDC1,missense_variant,p.Asp334Glu,ENST00000540001,;NDC1,5_prime_UTR_variant,,ENST00000537333,;	1601	202	150	SUCCESS
FAM151A	338094	.	GRCh37	1	55081819	55081819	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs759428311	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	65	0	ENST00000302250.2:c.289G>A	p.Val97Ile	p.V97I	ENST00000302250	NM_176782.2	97	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS594.1	289	MUTECT|MUSE	.	ATTGACGTCAG	NONE	byFrequency	.	hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF4,Pfam_domain:PF10223	.	.	ENSP00000306888	.	3/8	.	.	.	.	.	.	.	.	rs759428311	3/8	PASS	ENST00000302250	Transcript	.	.	ENSG00000162391	25032	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.448)	.	tolerated(0.11)	.	F151A_HUMAN	FAM151A	HGNC	.	.	UPI000003776D	SNV	FAM151A,missense_variant,p.Val97Ile,ENST00000371304,;FAM151A,missense_variant,p.Val97Ile,ENST00000302250,;ACOT11,intron_variant,,ENST00000371316,;	450	65	61	SUCCESS
JUN	3725	.	GRCh37	1	59247776	59247776	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	121	0	ENST00000371222.2:c.967A>G	p.Met323Val	p.M323V	ENST00000371222	NM_002228.3	323	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS610.1	967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCATGAGTT	NONE	.	.	hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF8,Prints_domain:PR00043	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	.	deleterious(0.02)	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	SNV	JUN,missense_variant,p.Met323Val,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	2010	121	80	SUCCESS
C1orf87	127795	.	GRCh37	1	60506733	60506733	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	73	193	0	ENST00000371201.3:c.413G>T	p.Gly138Val	p.G138V	ENST00000371201	NM_152377.2	138	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS614.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGCCATGC	NONE	.	.	.	.	.	ENSP00000360244	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000371201	Transcript	.	.	ENSG00000162598	28547	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.733)	.	deleterious(0.01)	.	CA087_HUMAN	C1orf87	HGNC	.	.	UPI000006E066	SNV	C1orf87,missense_variant,p.Gly138Val,ENST00000371201,;C1orf87,intron_variant,,ENST00000450089,;	521	193	163	SUCCESS
IL12RB2	3595	.	GRCh37	1	67852322	67852322	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1282492738	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	45	159	0	ENST00000262345.1:c.1916G>A	p.Gly639Asp	p.G639D	ENST00000262345	NM_001559.2	639	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS638.1	1916	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGCATTT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79	.	.	ENSP00000262345	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000262345	Transcript	.	.	ENSG00000081985	5972	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.891)	.	deleterious(0)	.	I12R2_HUMAN	IL12RB2	HGNC	.	.	UPI0000046B13	SNV	IL12RB2,missense_variant,p.Gly639Asp,ENST00000541374,;IL12RB2,missense_variant,p.Gly553Asp,ENST00000544434,;IL12RB2,missense_variant,p.Gly639Asp,ENST00000262345,;IL12RB2,missense_variant,p.Gly639Asp,ENST00000371000,;IL12RB2,non_coding_transcript_exon_variant,,ENST00000465396,;	2556	159	108	SUCCESS
DEPDC1	55635	.	GRCh37	1	68948426	68948427	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs760464782	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	20	139	0	ENST00000456315.2:c.1064dup	p.Asn355LysfsTer9	p.N355Kfs*9	ENST00000456315	NM_001114120.1	355	aac/aaAc	0	.	.	.	.	.	T	N/KX	protein_coding	YES	CCDS44159.1	1064-1065	INDELOCATOR|VARSCANI	.	TCTTTGTTTTT	NONE	.	.	hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12	.	.	ENSP00000412292	.	8/12	.	.	.	.	.	.	.	.	rs768423262	8/12	PASS	ENST00000456315	Transcript	.	.	ENSG00000024526	22949	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEP1A_HUMAN	DEPDC1	HGNC	E9PL61_HUMAN	.	UPI0000204557	insertion	DEPDC1,frameshift_variant,p.Asn355LysfsTer9,ENST00000456315,;DEPDC1,intron_variant,,ENST00000370966,;DEPDC1,downstream_gene_variant,,ENST00000525124,;RP4-694A7.2,intron_variant,,ENST00000425820,;DEPDC1,frameshift_variant,p.Asn268LysfsTer9,ENST00000489862,;DEPDC1,upstream_gene_variant,,ENST00000488146,;	1179-1180	140	70	SUCCESS
PER3	8863	.	GRCh37	1	7887311	7887311	+	synonymous_variant	Silent	SNP	C	C	T	rs767649662	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	22	147	0	ENST00000361923.2:c.2298C>T	p.Asn766=	p.N766=	ENST00000361923	NM_016831.1	766	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS89.1	2298	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACGCACA	NONE	.	.	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	.	.	ENSP00000355031	.	17/21	.	.	.	.	.	.	.	.	rs767649662	17/21	PASS	ENST00000361923	Transcript	.	.	ENSG00000049246	8847	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PER3_HUMAN	PER3	HGNC	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN	.	UPI0000167B1D	SNV	PER3,synonymous_variant,p.%3D,ENST00000377532,;PER3,synonymous_variant,p.%3D,ENST00000361923,;RP3-467L1.4,non_coding_transcript_exon_variant,,ENST00000451646,;	2473	147	110	SUCCESS
HS2ST1	9653	.	GRCh37	1	87563588	87563588	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764424834	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	31	96	0	ENST00000370550.5:c.656C>A	p.Pro219Gln	p.P219Q	ENST00000370550	NM_012262.3	219	cCg/cAg	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS711.1	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCCGTTCT	NONE	.	.	hmmpanther:PTHR12129:SF14,hmmpanther:PTHR12129,Pfam_domain:PF03567,Superfamily_domains:SSF52540	.	.	ENSP00000359581	.	5/7	.	.	.	.	.	.	.	.	rs764424834,COSM197716,COSM3671835,COSM3671836	5/7	PASS	ENST00000370550	Transcript	.	.	ENSG00000153936	5193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.999)	.	deleterious(0)	0,1,1,1	HS2ST_HUMAN	HS2ST1	HGNC	K7EP71_HUMAN	.	UPI0000073F43	SNV	HS2ST1,missense_variant,p.Pro219Gln,ENST00000370550,;RP5-1052I5.2,missense_variant,p.Pro193Gln,ENST00000370548,;HS2ST1,missense_variant,p.Pro193Gln,ENST00000356813,;HS2ST1,missense_variant,p.Pro219Gln,ENST00000370551,;	1019	96	151	SUCCESS
GBP3	2635	.	GRCh37	1	89476691	89476693	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs767706730	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	71	65	85	0	ENST00000370481.4:c.1256_1258del	p.Glu419del	p.E419del	ENST00000370481	NM_018284.2	419	gAAGtg/gtg	0	.	.	.	.	.	-	EV/V	protein_coding	YES	CCDS717.2	1256-1258	INDELOCATOR|VARSCANI	.	CCTTCACTTCTTCT	NONE	byFrequency	.	hmmpanther:PTHR10751:SF31,hmmpanther:PTHR10751,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397	.	.	ENSP00000359512	.	8/11	.	.	.	.	.	.	.	.	rs767706730	8/11	PASS	ENST00000370481	Transcript	.	.	ENSG00000117226	4184	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBP3_HUMAN	GBP3	HGNC	F6X827_HUMAN,H3BPH2_HUMAN,F6SPX6_HUMAN	.	UPI0000204D81	deletion	GBP3,inframe_deletion,p.Glu419del,ENST00000370481,;GBP3,inframe_deletion,p.Glu66del,ENST00000461384,;GBP3,intron_variant,,ENST00000445969,;GBP3,downstream_gene_variant,,ENST00000564665,;GBP3,downstream_gene_variant,,ENST00000475853,;GBP3,3_prime_UTR_variant,,ENST00000493594,;GBP3,3_prime_UTR_variant,,ENST00000235878,;GBP3,non_coding_transcript_exon_variant,,ENST00000370482,;GBP3,intron_variant,,ENST00000489444,;GBP3,downstream_gene_variant,,ENST00000568006,;	1477-1479	85	136	SUCCESS
GBP7	388646	.	GRCh37	1	89615112	89615112	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	10	105	0	ENST00000294671.2:c.1015G>A	p.Ala339Thr	p.A339T	ENST00000294671	NM_207398.2	339	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS720.1	1015	MUTECT|MUSE	.	CTGGGCCATCT	NONE	.	.	Superfamily_domains:0037397,Gene3D:1f5nA01,Pfam_domain:PF02841,hmmpanther:PTHR10751:SF18,hmmpanther:PTHR10751	.	.	ENSP00000294671	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000294671	Transcript	.	.	ENSG00000213512	29606	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.26)	.	tolerated(0.14)	.	GBP7_HUMAN	GBP7	HGNC	.	.	UPI000013E1A3	SNV	GBP7,missense_variant,p.Ala339Thr,ENST00000294671,;GBP2,5_prime_UTR_variant,,ENST00000464839,;	1154	105	141	SUCCESS
LRRC8D	55144	.	GRCh37	1	90400489	90400498	+	frameshift_variant	Frame_Shift_Del	DEL	ACGGCACTAA	ACGGCACTAA	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	ACGGCACTAA	ACGGCACTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	132	19	107	0	ENST00000337338.5:c.1864_1873del	p.Gly622SerfsTer4	p.G622Sfs*4	ENST00000337338	NM_001134479.1	621	gACGGCACTAAa/ga	0	.	.	.	.	.	-	DGTK/X	protein_coding	YES	CCDS726.1	1862-1871	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAATGACGGCACTAAACTCT	NONE	.	.	hmmpanther:PTHR23155:SF39,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000338887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337338	Transcript	.	.	ENSG00000171492	16992	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRC8D_HUMAN	LRRC8D	HGNC	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN	.	UPI00001BBFBA	deletion	LRRC8D,frameshift_variant,p.Gly622SerfsTer4,ENST00000394593,;LRRC8D,frameshift_variant,p.Gly622SerfsTer4,ENST00000337338,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000414841,;RP11-302M6.5,upstream_gene_variant,,ENST00000608671,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	2269-2278	107	151	SUCCESS
BARHL2	343472	.	GRCh37	1	91182580	91182580	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	203	21	127	0	ENST00000370445.4:c.173T>C	p.Val58Ala	p.V58A	ENST00000370445	NM_020063.1	58	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS730.1	173	MUTECT|MUSE|VARSCANS	.	TCCCTACGGTA	NONE	.	.	hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330	.	.	ENSP00000359474	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370445	Transcript	.	.	ENSG00000143032	954	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.956)	.	tolerated_low_confidence(1)	.	BARH2_HUMAN	BARHL2	HGNC	.	.	UPI00001B50ED	SNV	BARHL2,missense_variant,p.Val58Ala,ENST00000370445,;	215	127	224	SUCCESS
CDC7	8317	.	GRCh37	1	91985737	91985737	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1406898199	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	31	100	0	ENST00000234626.6:c.1231C>T	p.Arg411Ter	p.R411*	ENST00000234626	NM_001134419.1	411	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS734.1	1231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGACGATAT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF7,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000393139	.	11/12	.	.	.	.	.	.	.	.	COSM4010573	11/12	PASS	ENST00000428239	Transcript	.	.	ENSG00000097046	1745	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CDC7_HUMAN	CDC7	HGNC	B1AMW7_HUMAN	.	UPI0000127400	SNV	CDC7,stop_gained,p.Arg383Ter,ENST00000430031,;CDC7,stop_gained,p.Arg411Ter,ENST00000428239,;CDC7,stop_gained,p.Arg411Ter,ENST00000234626,;CDC7,non_coding_transcript_exon_variant,,ENST00000486509,;	1490	100	159	SUCCESS
BRDT	676	.	GRCh37	1	92430235	92430235	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1303707788	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	396	169	365	2	ENST00000362005.3:c.244C>T	p.Arg82Cys	p.R82C	ENST00000362005	NM_001242805.1	82	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS735.1	244	RADIA|VARSCANS	.	AGAAGCGCTTG	NONE	.	.	PROSITE_profiles:PS50014,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133,PROSITE_patterns:PS00633,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503	.	.	ENSP00000354568	.	4/20	.	.	.	.	.	.	.	.	COSM256417	4/20	PASS	ENST00000362005	Transcript	.	.	ENSG00000137948	1105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	BRDT_HUMAN	BRDT	HGNC	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN	.	UPI000013D0E1	SNV	BRDT,missense_variant,p.Arg82Cys,ENST00000440509,;BRDT,missense_variant,p.Arg9Cys,ENST00000370389,;BRDT,missense_variant,p.Arg82Cys,ENST00000426141,;BRDT,missense_variant,p.Arg82Cys,ENST00000548992,;BRDT,missense_variant,p.Arg82Cys,ENST00000402388,;BRDT,missense_variant,p.Arg82Cys,ENST00000450792,;BRDT,missense_variant,p.Arg82Cys,ENST00000399546,;BRDT,missense_variant,p.Arg82Cys,ENST00000427104,;BRDT,missense_variant,p.Arg9Cys,ENST00000552654,;BRDT,missense_variant,p.Arg82Cys,ENST00000362005,;BRDT,missense_variant,p.Arg82Cys,ENST00000423434,;BRDT,missense_variant,p.Arg82Cys,ENST00000448194,;BRDT,intron_variant,,ENST00000394530,;BRDT,downstream_gene_variant,,ENST00000449584,;BRDT,downstream_gene_variant,,ENST00000355011,;BRDT,downstream_gene_variant,,ENST00000457265,;	662	367	565	SUCCESS
SSTR4	6754	.	GRCh37	20	23017003	23017003	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1345914212	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	16	74	0	ENST00000255008.3:c.883G>A	p.Val295Met	p.V295M	ENST00000255008	NM_001052.2	295	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS42856.1	883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACGTGTCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00590	.	.	ENSP00000255008	.	1/1	.	.	.	.	.	.	.	.	COSM129447,COSM576978	1/1	PASS	ENST00000255008	Transcript	.	.	ENSG00000132671	11333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.206)	.	deleterious(0.03)	1,1	SSR4_HUMAN	SSTR4	HGNC	.	.	UPI000013CE7A	SNV	SSTR4,missense_variant,p.Val295Met,ENST00000255008,;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	947	74	78	SUCCESS
CD93	22918	.	GRCh37	20	23065156	23065156	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	8	47	0	ENST00000246006.4:c.1674C>A	p.Pro558=	p.P558=	ENST00000246006	NM_012072.3	558	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS13149.1	1674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGGGGCC	NONE	.	.	hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PIRSF_domain:PIRSF001775	.	.	ENSP00000246006	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000246006	Transcript	.	.	ENSG00000125810	15855	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QR1_HUMAN	CD93	HGNC	.	.	UPI00001273BC	SNV	CD93,synonymous_variant,p.%3D,ENST00000246006,;AL118508.1,upstream_gene_variant,,ENST00000539654,;	1822	47	49	SUCCESS
C20orf96	140680	.	GRCh37	20	256674	256674	+	synonymous_variant	Silent	SNP	C	C	T	rs1568489810	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	34	113	0	ENST00000360321.2:c.966G>A	p.Glu322=	p.E322=	ENST00000360321	NM_153269.2	322	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS12994.1	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCTCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15397	.	.	ENSP00000353470	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000360321	Transcript	.	.	ENSG00000196476	16227	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT096_HUMAN	C20orf96	HGNC	.	.	UPI00001285F1	SNV	C20orf96,synonymous_variant,p.%3D,ENST00000360321,;C20orf96,synonymous_variant,p.%3D,ENST00000382369,;C20orf96,downstream_gene_variant,,ENST00000400269,;	1105	113	77	SUCCESS
C20orf203	284805	.	GRCh37	20	31238388	31238388	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	82	279	1	ENST00000608990.1:n.1004C>T		p.*335*	ENST00000608990				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	CCACCGTGCCC	NONE	.	.	.	.	.	.	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000608990	Transcript	.	.	ENSG00000198547	26592	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	C20orf203	HGNC	.	.	.	SNV	C20orf203,non_coding_transcript_exon_variant,,ENST00000608990,;C20orf203,non_coding_transcript_exon_variant,,ENST00000360785,;	1004	281	272	SUCCESS
GSS	2937	.	GRCh37	20	33519901	33519901	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	210	34	225	0	ENST00000216951.2:c.870T>C	p.His290=	p.H290=	ENST00000216951	NM_000178.2	290	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS13245.1	870	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCATGTGA	NONE	.	.	hmmpanther:PTHR11130:SF0,hmmpanther:PTHR11130,Pfam_domain:PF03199,Pfam_domain:PF03917,TIGRFAM_domain:TIGR01986,Gene3D:1m0wB04,PIRSF_domain:PIRSF001558,Superfamily_domains:SSF52440	.	.	ENSP00000216951	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000216951	Transcript	1	.	ENSG00000100983	4624	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GSHB_HUMAN	GSS	HGNC	B7Z514_HUMAN,B7Z1C5_HUMAN	.	UPI0000111B5F	SNV	GSS,synonymous_variant,p.%3D,ENST00000216951,;GSS,synonymous_variant,p.%3D,ENST00000451957,;GSS,synonymous_variant,p.%3D,ENST00000541098,;ACSS2,downstream_gene_variant,,ENST00000360596,;ACSS2,downstream_gene_variant,,ENST00000336325,;ACSS2,downstream_gene_variant,,ENST00000253382,;ACSS2,downstream_gene_variant,,ENST00000476922,;ACSS2,downstream_gene_variant,,ENST00000481284,;ACSS2,downstream_gene_variant,,ENST00000477932,;ACSS2,downstream_gene_variant,,ENST00000494727,;	969	225	244	SUCCESS
SAMHD1	25939	.	GRCh37	20	35521429	35521429	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs1215993198	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	35	97	0	ENST00000262878.4:c.1787del	p.Lys596ArgfsTer35	p.K596Rfs*35	ENST00000262878	NM_015474.3	596	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS13288.1	1787	INDELOCATOR*|VARSCANI*|PINDEL	.	CATTCCTTTTTT	NONE	.	.	hmmpanther:PTHR11373:SF4,hmmpanther:PTHR11373	.	.	ENSP00000262878	.	16/16	.	.	.	.	.	.	.	.	COSM1411557	16/16	PASS	ENST00000262878	Transcript	1	.	ENSG00000101347	15925	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	SAMH1_HUMAN	SAMHD1	HGNC	A6NDZ3_HUMAN	.	UPI0000035DA0	deletion	SAMHD1,frameshift_variant,p.Lys596ArgfsTer35,ENST00000262878,;TLDC2,3_prime_UTR_variant,,ENST00000436941,;TLDC2,3_prime_UTR_variant,,ENST00000217320,;TLDC2,downstream_gene_variant,,ENST00000602922,;SAMHD1,downstream_gene_variant,,ENST00000465985,;	1987	97	158	SUCCESS
BLCAP	10904	.	GRCh37	20	36147590	36147590	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	63	146	0	ENST00000373537.2:c.-14G>A		p.*5*	ENST00000373537	NM_006698.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13295.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCAGGGC	NONE	.	.	.	.	.	ENSP00000397172	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000414542	Transcript	.	.	ENSG00000166619	1055	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BLCAP_HUMAN	BLCAP	HGNC	A2A2K9_HUMAN,A2A2K8_HUMAN	.	UPI0000000D02	SNV	BLCAP,5_prime_UTR_variant,,ENST00000397137,;BLCAP,5_prime_UTR_variant,,ENST00000445723,;BLCAP,5_prime_UTR_variant,,ENST00000373537,;BLCAP,5_prime_UTR_variant,,ENST00000397131,;BLCAP,5_prime_UTR_variant,,ENST00000432507,;BLCAP,5_prime_UTR_variant,,ENST00000456058,;BLCAP,5_prime_UTR_variant,,ENST00000414542,;BLCAP,5_prime_UTR_variant,,ENST00000414080,;BLCAP,5_prime_UTR_variant,,ENST00000397135,;BLCAP,5_prime_UTR_variant,,ENST00000397134,;NNAT,upstream_gene_variant,,ENST00000062104,;NNAT,upstream_gene_variant,,ENST00000346199,;BLCAP,intron_variant,,ENST00000467603,;	435	146	162	SUCCESS
CENPB	1059	.	GRCh37	20	3766272	3766272	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	204	14	179	0	ENST00000379751.4:c.859G>A	p.Ala287Thr	p.A287T	ENST00000379751	NM_001810.5	287	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13064.1	859	MUTECT|MUSE	.	CTCTGCAGCCA	NONE	.	.	Pfam_domain:PF03184,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF194	.	.	ENSP00000369075	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379751	Transcript	.	.	ENSG00000125817	1852	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	tolerated(0.26)	.	CENPB_HUMAN	CENPB	HGNC	Q96EI4_HUMAN,Q71VN4_HUMAN,Q71VN3_HUMAN	.	UPI00001274F8	SNV	CENPB,missense_variant,p.Ala287Thr,ENST00000379751,;CDC25B,upstream_gene_variant,,ENST00000379598,;CDC25B,upstream_gene_variant,,ENST00000344256,;SPEF1,upstream_gene_variant,,ENST00000379756,;SPEF1,upstream_gene_variant,,ENST00000471499,;SPEF1,upstream_gene_variant,,ENST00000463490,;	1066	179	218	SUCCESS
IFT52	51098	.	GRCh37	20	42271226	42271226	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768728172	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	15	117	1	ENST00000373030.3:c.1228G>A	p.Val410Ile	p.V410I	ENST00000373030	NM_016004.2	410	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS33470.1	1228	RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGTCTTC	NONE	byFrequency	.	hmmpanther:PTHR12969,hmmpanther:PTHR12969:SF6	.	.	ENSP00000362121	.	13/14	.	.	.	.	.	.	.	.	rs768728172	13/14	PASS	ENST00000373030	Transcript	.	.	ENSG00000101052	15901	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(1)	.	IFT52_HUMAN	IFT52	HGNC	.	.	UPI0000001C8B	SNV	IFT52,missense_variant,p.Val410Ile,ENST00000373030,;IFT52,missense_variant,p.Val410Ile,ENST00000373039,;IFT52,non_coding_transcript_exon_variant,,ENST00000471199,;IFT52,intron_variant,,ENST00000461012,;	1358	118	124	SUCCESS
FAM65C	0	.	GRCh37	20	49225478	49225478	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779249727	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	17	85	0	ENST00000327979.2:c.643G>A	p.Ala215Thr	p.A215T	ENST00000327979		215	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13431.2	643	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCGTAGC	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	.	.	ENSP00000332663	.	9/22	.	.	.	.	.	.	.	.	rs779249727	9/22	PASS	ENST00000327979	Transcript	.	.	ENSG00000042062	16168	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FA65C_HUMAN	FAM65C	HGNC	.	.	UPI0000DA5AF4	SNV	FAM65C,missense_variant,p.Ala215Thr,ENST00000327979,;FAM65C,missense_variant,p.Ala219Thr,ENST00000535356,;FAM65C,missense_variant,p.Ala215Thr,ENST00000045083,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	1055	85	84	SUCCESS
ZNF217	7764	.	GRCh37	20	52193651	52193651	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs958130242	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	69	0	ENST00000302342.3:c.1652G>A	p.Ser551Asn	p.S551N	ENST00000302342	NM_006526.2	551	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS13443.1	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCACTGTCA	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6	.	.	ENSP00000360526	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000371471	Transcript	.	.	ENSG00000171940	13009	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	deleterious(0.04)	.	ZN217_HUMAN	ZNF217	HGNC	A2A326_HUMAN	.	UPI000013C323	SNV	ZNF217,missense_variant,p.Ser551Asn,ENST00000302342,;ZNF217,missense_variant,p.Ser551Asn,ENST00000371471,;ZNF217,upstream_gene_variant,,ENST00000437222,;RP4-724E16.2,downstream_gene_variant,,ENST00000424252,;	2078	69	83	SUCCESS
PROKR2	128674	.	GRCh37	20	5294612	5294612	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746638938	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	22	110	1	ENST00000217270.3:c.404G>A	p.Arg135His	p.R135H	ENST00000217270	NM_144773.2	135	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS13089.1	404	RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGCGCAGG	NONE	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF189,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01012,Prints_domain:PR00237	.	.	ENSP00000440790	.	2/3	.	.	.	.	.	.	.	.	rs746638938,COSM1028227	2/3	PASS	ENST00000546004	Transcript	1	.	ENSG00000101292	15836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	probably_damaging(0.987)	.	deleterious(0.04)	0,1	PKR2_HUMAN	PROKR2	HGNC	.	.	UPI000003BCC6	SNV	PROKR2,missense_variant,p.Arg135His,ENST00000546004,;PROKR2,missense_variant,p.Arg135His,ENST00000217270,;	651	111	161	SUCCESS
LAMA5	3911	.	GRCh37	20	60888755	60888755	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760209781	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	36	0	ENST00000252999.3:c.8608C>T	p.Arg2870Trp	p.R2870W	ENST00000252999	NM_005560.4	2870	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS33502.1	8608	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGCAGGT	NONE	byFrequency	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000252999	.	63/80	.	.	.	.	.	.	.	.	rs760209781	63/80	PASS	ENST00000252999	Transcript	.	.	ENSG00000130702	6485	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.272)	.	.	.	LAMA5_HUMAN	LAMA5	HGNC	O75079_HUMAN	.	UPI0000161FDC	SNV	LAMA5,missense_variant,p.Arg2870Trp,ENST00000252999,;ADRM1,downstream_gene_variant,,ENST00000253003,;LAMA5,upstream_gene_variant,,ENST00000492698,;LAMA5,missense_variant,p.Arg76Trp,ENST00000370691,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000468786,;LAMA5,downstream_gene_variant,,ENST00000471042,;	8675	36	61	SUCCESS
ARFGAP1	55738	.	GRCh37	20	61917759	61917760	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	97	0	ENST00000370283.4:c.883dup	p.Ser295PhefsTer42	p.S295Ffs*42	ENST00000370283	NM_018209.3	292	-/T	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS13516.1	900-901	INDELOCATOR|VARSCANI	.	ACCACCTTTTT	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF35	.	.	ENSP00000314615	.	13/14	.	.	.	.	.	.	.	.	COSM1413062	13/14	PASS	ENST00000353546	Transcript	.	.	ENSG00000101199	15852	7	.	HIGH	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	ARFG1_HUMAN	ARFGAP1	HGNC	F8VWH9_HUMAN,F8VWB3_HUMAN,E5RIU2_HUMAN	.	UPI000002A3F2	insertion	ARFGAP1,frameshift_variant,p.Ser51PhefsTer42,ENST00000523460,;ARFGAP1,frameshift_variant,p.Arg375SerfsTer113,ENST00000370275,;ARFGAP1,frameshift_variant,p.Ser295PhefsTer42,ENST00000370283,;ARFGAP1,frameshift_variant,p.Ser250PhefsTer42,ENST00000519604,;ARFGAP1,frameshift_variant,p.Ser229PhefsTer42,ENST00000547204,;ARFGAP1,frameshift_variant,p.Ser221PhefsTer42,ENST00000549047,;ARFGAP1,frameshift_variant,p.Ser303PhefsTer42,ENST00000353546,;ARFGAP1,frameshift_variant,p.Ser182PhefsTer42,ENST00000519273,;ARFGAP1,upstream_gene_variant,,ENST00000549076,;ARFGAP1,downstream_gene_variant,,ENST00000518601,;ARFGAP1,downstream_gene_variant,,ENST00000522403,;MIR4326,upstream_gene_variant,,ENST00000582203,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000468975,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518618,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000518794,;ARFGAP1,3_prime_UTR_variant,,ENST00000520485,;ARFGAP1,non_coding_transcript_exon_variant,,ENST00000395285,;ARFGAP1,downstream_gene_variant,,ENST00000520022,;ARFGAP1,downstream_gene_variant,,ENST00000518691,;ARFGAP1,downstream_gene_variant,,ENST00000519531,;	960-961	97	100	SUCCESS
SRMS	6725	.	GRCh37	20	62172859	62172859	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs775845157	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	23	113	0	ENST00000217188.1:c.1061G>A	p.Arg354Gln	p.R354Q	ENST00000217188	NM_080823.2	354	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS13525.1	1061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCCGGGCG	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF23,hmmpanther:PTHR24418,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	.	.	ENSP00000217188	.	6/8	.	.	.	.	.	.	.	.	rs775845157	6/8	PASS	ENST00000217188	Transcript	.	.	ENSG00000125508	11298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	SRMS_HUMAN	SRMS	HGNC	.	.	UPI000004F1F3	SNV	SRMS,missense_variant,p.Arg354Gln,ENST00000217188,;PTK6,upstream_gene_variant,,ENST00000217185,;PTK6,upstream_gene_variant,,ENST00000542869,;	1102	113	115	SUCCESS
TNFRSF6B	8771	.	GRCh37	20	62328389	62328389	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	15	93	0	ENST00000369996.1:c.269A>G	p.Tyr90Cys	p.Y90C	ENST00000369996	NM_003823.3	90	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS13532.1	269	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTACTGCA	NONE	.	.	Superfamily_domains:SSF57586,SMART_domains:SM00208,Pfam_domain:PF00020,hmmpanther:PTHR23097:SF94,hmmpanther:PTHR23097,PROSITE_profiles:PS50050	.	.	ENSP00000359013	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000369996	Transcript	.	.	ENSG00000243509	11921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	TNF6B_HUMAN	TNFRSF6B	HGNC	H0UI95_HUMAN	.	UPI0000032CAD	SNV	TNFRSF6B,missense_variant,p.Tyr90Cys,ENST00000369996,;RTEL1,synonymous_variant,p.%3D,ENST00000318100,;ARFRP1,downstream_gene_variant,,ENST00000609142,;ARFRP1,downstream_gene_variant,,ENST00000217224,;RTEL1,downstream_gene_variant,,ENST00000370018,;ARFRP1,downstream_gene_variant,,ENST00000324228,;RTEL1,downstream_gene_variant,,ENST00000360203,;ARFRP1,downstream_gene_variant,,ENST00000440854,;RTEL1,downstream_gene_variant,,ENST00000508582,;ARFRP1,downstream_gene_variant,,ENST00000359715,;RTEL1,downstream_gene_variant,,ENST00000370003,;ARFRP1,downstream_gene_variant,,ENST00000607873,;ARFRP1,downstream_gene_variant,,ENST00000609188,;ARFRP1,downstream_gene_variant,,ENST00000485858,;RTEL1-TNFRSF6B,synonymous_variant,p.%3D,ENST00000482936,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;ARFRP1,downstream_gene_variant,,ENST00000609243,;RTEL1,downstream_gene_variant,,ENST00000496816,;ARFRP1,downstream_gene_variant,,ENST00000610136,;ARFRP1,downstream_gene_variant,,ENST00000609537,;	369	93	105	SUCCESS
ABHD16B	140701	.	GRCh37	20	62493729	62493729	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1320411516	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	47	0	ENST00000369916.3:c.836C>T	p.Ala279Val	p.A279V	ENST00000369916	NM_080622.3	279	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS13539.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGCTGA	NONE	.	.	hmmpanther:PTHR12277:SF37,hmmpanther:PTHR12277,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000358932	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369916	Transcript	.	.	ENSG00000183260	16128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	ABHGB_HUMAN	ABHD16B	HGNC	.	.	UPI000012860E	SNV	ABHD16B,missense_variant,p.Ala279Val,ENST00000369916,;TPD52L2,upstream_gene_variant,,ENST00000369927,;C20ORF135,upstream_gene_variant,,ENST00000601296,;TPD52L2,upstream_gene_variant,,ENST00000217121,;TPD52L2,upstream_gene_variant,,ENST00000351424,;TPD52L2,upstream_gene_variant,,ENST00000348257,;TPD52L2,upstream_gene_variant,,ENST00000358548,;TPD52L2,upstream_gene_variant,,ENST00000352482,;TPD52L2,upstream_gene_variant,,ENST00000346249,;	1164	47	54	SUCCESS
CYYR1	116159	.	GRCh37	21	27945475	27945475	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	12	0	ENST00000299340.4:c.-216G>A		p.*72*	ENST00000299340	NM_052954.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13578.1	.	MUTECT|MUSE	.	TGGCCCGAGAC	NONE	.	.	.	.	.	ENSP00000299340	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000299340	Transcript	.	.	ENSG00000166265	16274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CYYR1_HUMAN	CYYR1	HGNC	.	.	UPI0000128D80	SNV	CYYR1,missense_variant,p.Gly37Arg,ENST00000435845,;CYYR1,5_prime_UTR_variant,,ENST00000400043,;CYYR1,5_prime_UTR_variant,,ENST00000299340,;AP001597.1,downstream_gene_variant,,ENST00000357401,;	129	12	13	SUCCESS
KRTAP13-2	337959	.	GRCh37	21	31744329	31744329	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs202124632	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	21	139	0	ENST00000399889.2:c.203C>T	p.Thr68Met	p.T68M	ENST00000399889	NM_181621.3	68	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS13589.1	203	RADIA|MUTECT|MUSE	.	AGGACGTCTGG	NONE	byCluster	.	Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17	.	A:0.0001	ENSP00000382777	.	1/1	.	.	.	.	.	.	.	.	rs202124632	1/1	PASS	ENST00000399889	Transcript	.	.	ENSG00000182816	18923	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.149)	.	tolerated(0.06)	.	KR132_HUMAN	KRTAP13-2	HGNC	.	.	UPI000003B46A	SNV	KRTAP13-2,missense_variant,p.Thr68Met,ENST00000399889,;MIR4327,downstream_gene_variant,,ENST00000581194,;	229	139	112	SUCCESS
HLCS	3141	.	GRCh37	21	38128905	38128906	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	165	57	191	0	ENST00000336648.4:c.1946_1947del	p.Lys649ArgfsTer99	p.K649Rfs*99	ENST00000336648	NM_000411.6	649	aAA/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS13647.1	1946-1947	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACTCTTTGATC	NONE	.	.	hmmpanther:PTHR12835,hmmpanther:PTHR12835:SF6,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00121,Superfamily_domains:SSF55681	.	.	ENSP00000382071	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000399120	Transcript	.	.	ENSG00000159267	4976	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BPL1_HUMAN	HLCS	HGNC	C9JD75_HUMAN,C9JCQ9_HUMAN	.	UPI0000126A8C	deletion	HLCS,frameshift_variant,p.Lys649ArgfsTer99,ENST00000399120,;HLCS,frameshift_variant,p.Lys649ArgfsTer99,ENST00000336648,;	3177-3178	191	222	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43795963	43795963	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	36	0	ENST00000291532.3:c.1209del	p.Leu405TrpfsTer11	p.L405Wfs*11	ENST00000291532	NM_032404.2	403	ggG/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS13686.1	1209	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGGGCCCCCC	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,PROSITE_patterns:PS00135,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	.	.	ENSP00000291532	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	deletion	TMPRSS3,frameshift_variant,p.Leu489TrpfsTer11,ENST00000380399,;TMPRSS3,frameshift_variant,p.Leu404TrpfsTer11,ENST00000433957,;TMPRSS3,frameshift_variant,p.Leu405TrpfsTer11,ENST00000291532,;TMPRSS3,frameshift_variant,p.Leu402TrpfsTer11,ENST00000398405,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000476848,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;	2165	36	62	SUCCESS
C21orf2	0	.	GRCh37	21	45750586	45750586	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	103	0	ENST00000397956.3:c.759A>G	p.Ser253=	p.S253=	ENST00000397956	NM_001271441.1	253	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS59444.1	759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGTGAGGC	NONE	.	.	hmmpanther:PTHR18849,hmmpanther:PTHR18849:SF0	.	.	ENSP00000381047	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000397956	Transcript	.	.	ENSG00000160226	1260	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CU002_HUMAN	C21orf2	HGNC	.	.	UPI00000738DF	SNV	C21orf2,synonymous_variant,p.%3D,ENST00000397956,;C21orf2,intron_variant,,ENST00000325223,;C21orf2,intron_variant,,ENST00000339818,;PFKL,downstream_gene_variant,,ENST00000349048,;PFKL,downstream_gene_variant,,ENST00000403390,;AP001062.7,upstream_gene_variant,,ENST00000448927,;AP001062.8,upstream_gene_variant,,ENST00000422357,;AP001062.8,upstream_gene_variant,,ENST00000444409,;C21orf2,intron_variant,,ENST00000470196,;C21orf2,intron_variant,,ENST00000496321,;C21orf2,non_coding_transcript_exon_variant,,ENST00000462742,;PFKL,downstream_gene_variant,,ENST00000460521,;PFKL,downstream_gene_variant,,ENST00000474114,;PFKL,downstream_gene_variant,,ENST00000397961,;PFKL,downstream_gene_variant,,ENST00000498841,;PFKL,downstream_gene_variant,,ENST00000466134,;C21orf2,downstream_gene_variant,,ENST00000478674,;PFKL,downstream_gene_variant,,ENST00000467315,;AP001062.1,upstream_gene_variant,,ENST00000333748,;	958	103	94	SUCCESS
LINC00205	642852	.	GRCh37	21	46713373	46713373	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	5	77	0	ENST00000433465.1:n.174C>T		p.*58*	ENST00000433465				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GAGGACTCTTC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433465	Transcript	.	.	ENSG00000223768	16420	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LINC00205	HGNC	.	.	.	SNV	LINC00205,non_coding_transcript_exon_variant,,ENST00000433465,;BX322557.10,downstream_gene_variant,,ENST00000400362,;BX322557.10,downstream_gene_variant,,ENST00000454115,;	174	77	75	SUCCESS
SLC19A1	6573	.	GRCh37	21	46951806	46951806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	64	0	ENST00000311124.4:c.446A>G	p.Tyr149Cys	p.Y149C	ENST00000311124	NM_194255.2	149	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS13725.1	446	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGTAGCGC	NONE	.	.	hmmpanther:PTHR10686:SF12,hmmpanther:PTHR10686,Gene3D:1.20.1250.20,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF500793,PIRSF_domain:PIRSF028739,Superfamily_domains:SSF103473	.	.	ENSP00000308895	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000311124	Transcript	.	.	ENSG00000173638	10937	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	S19A1_HUMAN	SLC19A1	HGNC	E9PIL5_HUMAN,D3DSM6_HUMAN,C9JKP4_HUMAN,C9J8K6_HUMAN	.	UPI000012AA0F	SNV	SLC19A1,missense_variant,p.Tyr149Cys,ENST00000567670,;SLC19A1,missense_variant,p.Tyr149Cys,ENST00000443742,;SLC19A1,missense_variant,p.Tyr149Cys,ENST00000311124,;SLC19A1,missense_variant,p.Tyr149Cys,ENST00000427839,;SLC19A1,missense_variant,p.Tyr149Cys,ENST00000380010,;SLC19A1,missense_variant,p.Tyr109Cys,ENST00000485649,;SLC19A1,upstream_gene_variant,,ENST00000417954,;SLC19A1,non_coding_transcript_exon_variant,,ENST00000477688,;SLC19A1,downstream_gene_variant,,ENST00000486303,;	599	64	45	SUCCESS
COL6A2	1292	.	GRCh37	21	47552145	47552147	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs746930351	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	70	8	71	0	ENST00000300527.4:c.2741_2743del	p.Phe914del	p.F914del	ENST00000300527	NM_001849.3	913	tcCTTc/tcc	0	.	.	.	.	.	-	SF/S	protein_coding	YES	CCDS13728.1	2739-2741	INDELOCATOR*|VARSCANI*|PINDEL	.	GAACTCCTTCTCGC	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF119,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000300527	.	28/28	.	.	.	.	.	.	.	.	rs746930351	28/28	PASS	ENST00000300527	Transcript	.	.	ENSG00000142173	2212	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO6A2_HUMAN	COL6A2	HGNC	C9JH44_HUMAN	.	UPI00001AECE0	deletion	COL6A2,inframe_deletion,p.Phe914del,ENST00000300527,;FTCD,downstream_gene_variant,,ENST00000397746,;COL6A2,downstream_gene_variant,,ENST00000397763,;FTCD,downstream_gene_variant,,ENST00000359679,;COL6A2,downstream_gene_variant,,ENST00000310645,;FTCD,downstream_gene_variant,,ENST00000397743,;FTCD,downstream_gene_variant,,ENST00000291670,;FTCD,downstream_gene_variant,,ENST00000355384,;FTCD,downstream_gene_variant,,ENST00000446405,;COL6A2,downstream_gene_variant,,ENST00000357838,;COL6A2,downstream_gene_variant,,ENST00000409416,;FTCD,downstream_gene_variant,,ENST00000397748,;FTCD,downstream_gene_variant,,ENST00000460011,;FTCD,downstream_gene_variant,,ENST00000498355,;FTCD,downstream_gene_variant,,ENST00000483568,;	2843-2845	71	78	SUCCESS
PEX26	55670	.	GRCh37	22	18561184	18561184	+	synonymous_variant	Silent	SNP	G	G	A	rs758778915	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	28	54	0	ENST00000329627.7:c.42G>A	p.Gly14=	p.G14=	ENST00000329627	NM_017929.5	14	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13750.1	42	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGCTCGG	NONE	.	.	Pfam_domain:PF07163,hmmpanther:PTHR16262,hmmpanther:PTHR16262:SF1	.	.	ENSP00000331106	.	2/6	.	.	.	.	.	.	.	.	rs758778915	2/6	PASS	ENST00000329627	Transcript	.	.	ENSG00000215193	22965	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEX26_HUMAN	PEX26	HGNC	.	.	UPI000000DBD1	SNV	PEX26,synonymous_variant,p.%3D,ENST00000399744,;PEX26,synonymous_variant,p.%3D,ENST00000329627,;PEX26,synonymous_variant,p.%3D,ENST00000428061,;XXbac-B476C20.9,non_coding_transcript_exon_variant,,ENST00000607927,;XXbac-B476C20.9,upstream_gene_variant,,ENST00000426483,;PEX26,synonymous_variant,p.%3D,ENST00000474897,;XXbac-B476C20.11,downstream_gene_variant,,ENST00000427227,;	248	54	74	SUCCESS
HIRA	7290	.	GRCh37	22	19344473	19344473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	9	68	0	ENST00000263208.5:c.2336C>T	p.Thr779Ile	p.T779I	ENST00000263208	NM_003325.3	779	aCt/aTt	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS13759.1	2336	MUTECT|MUSE|VARSCANS	.	GCAAAGTAGAG	NONE	.	.	hmmpanther:PTHR13831:SF0,hmmpanther:PTHR13831,Pfam_domain:PF07569	.	.	ENSP00000263208	.	19/25	.	.	.	.	.	.	.	.	.	19/25	PASS	ENST00000263208	Transcript	.	.	ENSG00000100084	4916	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.328)	.	tolerated(0.39)	.	HIRA_HUMAN	HIRA	HGNC	F5H4M2_HUMAN	.	UPI0000074373	SNV	HIRA,missense_variant,p.Thr735Ile,ENST00000541063,;HIRA,missense_variant,p.Thr779Ile,ENST00000263208,;HIRA,missense_variant,p.Thr735Ile,ENST00000546308,;HIRA,intron_variant,,ENST00000340170,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;	2593	68	97	SUCCESS
LZTR1	8216	.	GRCh37	22	21343966	21344002	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs541944601	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	18	0	ENST00000215739.8:c.651+10_651+46del		p.X217_splice	ENST00000215739	NM_006767.3	217		0	.	-:0.1354	.	-:0.1859	.	-	.	protein_coding	YES	CCDS33606.1	646-?	INDELOCATOR|VARSCANI	.	TGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.2907	.	ENSP00000215739	-:0.166	7/21	.	.	.	.	.	.	.	.	rs541944601	7/21	PASS	ENST00000215739	Transcript	.	-:0.1791	ENSG00000099949	6742	15	.	HIGH	7/20	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.1319	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	deletion	LZTR1,splice_donor_variant,,ENST00000215739,;LZTR1,splice_donor_variant,,ENST00000389355,;LZTR1,splice_donor_variant,,ENST00000479606,;LZTR1,splice_donor_variant,,ENST00000497716,;LZTR1,splice_donor_variant,,ENST00000480895,;LZTR1,splice_donor_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000443265,;	1005-?	18	23	SUCCESS
RTDR1	0	.	GRCh37	22	23406095	23406095	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs775859719	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	72	0	ENST00000216036.4:c.638C>T	p.Ala213Val	p.A213V	ENST00000216036	NM_014433.2	213	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS13803.1	638	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCACGG	NONE	.	.	hmmpanther:PTHR15599,Pfam_domain:PF13646,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000216036	.	5/7	.	.	.	.	.	.	.	.	rs775859719	5/7	PASS	ENST00000216036	Transcript	.	.	ENSG00000100218	13437	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.97)	.	RTDR1_HUMAN	RTDR1	HGNC	.	.	UPI000004A0CE	SNV	RTDR1,missense_variant,p.Ala213Val,ENST00000216036,;	835	72	81	SUCCESS
KB-1572G7.2	0	.	GRCh37	22	24059430	24059430	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	16	0	ENST00000421064.1:n.105G>A		p.*35*	ENST00000421064				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCCATAC	NONE	.	.	.	.	.	.	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000421064	Transcript	.	.	ENSG00000273000	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KB-1572G7.2	Clone_based_vega_gene	.	.	.	SNV	GUSBP11,non_coding_transcript_exon_variant,,ENST00000452737,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000445682,;KB-1572G7.2,non_coding_transcript_exon_variant,,ENST00000421064,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000451837,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000437294,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000422506,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000432595,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000444220,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000435868,;	105	16	19	SUCCESS
MYO18B	84700	.	GRCh37	22	26159258	26159258	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1483990582	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	110	0	ENST00000536101.1:c.100C>A	p.Pro34Thr	p.P34T	ENST00000536101		34	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54507.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCCAGGG	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	3/44	.	.	.	.	.	.	.	.	COSM1632549	3/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Pro34Thr,ENST00000335473,;MYO18B,missense_variant,p.Pro34Thr,ENST00000407587,;MYO18B,missense_variant,p.Pro34Thr,ENST00000536101,;MYO18B,missense_variant,p.Pro34Thr,ENST00000539302,;	350	110	109	SUCCESS
NF2	4771	.	GRCh37	22	30069387	30069387	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765540111	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	19	126	0	ENST00000338641.4:c.1252C>T	p.Arg418Cys	p.R418C	ENST00000338641	NM_000268.3	418	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS13861.1	1252	RADIA|MUTECT|MUSE|VARSCANS	.	CGATTCGCACG	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305	.	.	ENSP00000344666	.	12/16	.	.	.	.	.	.	.	.	rs765540111,CM942127,COSM1033212,COSM1592913	12/16	PASS	ENST00000338641	Transcript	.	.	ENSG00000186575	7773	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1,1	.	.	possibly_damaging(0.901)	.	deleterious(0)	0,0,1,1	MERL_HUMAN	NF2	HGNC	Q9NRW8_HUMAN	.	UPI000012EF27	SNV	NF2,missense_variant,p.Arg389Cys,ENST00000403435,;NF2,missense_variant,p.Arg376Cys,ENST00000361676,;NF2,missense_variant,p.Arg418Cys,ENST00000338641,;NF2,missense_variant,p.Arg418Cys,ENST00000397789,;NF2,missense_variant,p.Arg335Cys,ENST00000353887,;NF2,missense_variant,p.Arg418Cys,ENST00000361166,;NF2,missense_variant,p.Arg418Cys,ENST00000403999,;NF2,missense_variant,p.Arg335Cys,ENST00000334961,;NF2,missense_variant,p.Arg377Cys,ENST00000361452,;NF2,intron_variant,,ENST00000347330,;NF2,intron_variant,,ENST00000413209,;NF2,intron_variant,,ENST00000432151,;	1693	126	141	SUCCESS
SEC14L3	266629	.	GRCh37	22	30857443	30857443	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144684185	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	61	0	ENST00000215812.4:c.935C>T	p.Ala312Val	p.A312V	ENST00000215812	NM_174975.4	312	gCg/gTg	0	A:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS13877.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCGCACCA	NONE	byCluster	.	PROSITE_profiles:PS50866,hmmpanther:PTHR23324:SF62,hmmpanther:PTHR23324,Gene3D:3.40.525.10,Superfamily_domains:0041713	.	A:0.0001	ENSP00000215812	.	11/12	.	.	.	.	.	.	.	.	rs144684185	11/12	PASS	ENST00000215812	Transcript	.	.	ENSG00000100012	18655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.09)	.	S14L3_HUMAN	SEC14L3	HGNC	.	.	UPI000000D83C	SNV	SEC14L3,missense_variant,p.Ala235Val,ENST00000540910,;SEC14L3,missense_variant,p.Ala253Val,ENST00000415957,;SEC14L3,missense_variant,p.Ala312Val,ENST00000215812,;SEC14L3,missense_variant,p.Ala253Val,ENST00000403066,;SEC14L3,missense_variant,p.Ala253Val,ENST00000401751,;SEC14L3,missense_variant,p.Ala253Val,ENST00000539629,;SEC14L3,missense_variant,p.Ala235Val,ENST00000402286,;SEC14L3,downstream_gene_variant,,ENST00000435069,;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;	1026	61	73	SUCCESS
TIMP3	7078	.	GRCh37	22	33255323	33255323	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs757258891	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	25	0	ENST00000266085.6:c.595G>C	p.Ala199Pro	p.A199P	ENST00000266085	NM_000362.4	199	Gcc/Ccc	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS13911.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGCCCCC	NONE	.	.	hmmpanther:PTHR11844:SF6,hmmpanther:PTHR11844	.	.	ENSP00000266085	.	5/5	.	.	.	.	.	.	.	.	rs757258891,COSM1178726	5/5	PASS	ENST00000266085	Transcript	.	.	ENSG00000100234	11822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.598)	.	tolerated(0.16)	0,1	TIMP3_HUMAN	TIMP3	HGNC	.	.	UPI000005F30A	SNV	TIMP3,missense_variant,p.Ala199Pro,ENST00000266085,;SYN3,intron_variant,,ENST00000358763,;SYN3,intron_variant,,ENST00000332840,;SYN3,intron_variant,,ENST00000462268,;Z98256.1,downstream_gene_variant,,ENST00000327661,;	896	25	45	SUCCESS
CACNG2	10369	.	GRCh37	22	36960548	36960548	+	synonymous_variant	Silent	SNP	G	G	A	rs1327592769	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	21	107	0	ENST00000300105.6:c.822C>T	p.Ser274=	p.S274=	ENST00000300105	NM_006078.3	274	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS13931.1	822	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGCTGAG	NONE	.	.	hmmpanther:PTHR12107:SF1,hmmpanther:PTHR12107	.	.	ENSP00000300105	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,synonymous_variant,p.%3D,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	1804	107	132	SUCCESS
CARD10	29775	.	GRCh37	22	37904630	37904630	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	18	43	0	ENST00000251973.5:c.969T>C	p.His323=	p.H323=	ENST00000251973	NM_014550.3	323	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS13948.1	969	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCATGCTC	NONE	.	.	hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF4,Superfamily_domains:SSF57997	.	.	ENSP00000384570	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000403299	Transcript	.	.	ENSG00000100065	16422	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAR10_HUMAN	CARD10	HGNC	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN	.	UPI0000044645	SNV	CARD10,synonymous_variant,p.%3D,ENST00000251973,;CARD10,synonymous_variant,p.%3D,ENST00000406271,;CARD10,synonymous_variant,p.%3D,ENST00000403299,;CARD10,5_prime_UTR_variant,,ENST00000437756,;CARD10,upstream_gene_variant,,ENST00000433485,;CARD10,non_coding_transcript_exon_variant,,ENST00000494166,;CARD10,non_coding_transcript_exon_variant,,ENST00000476871,;	1186	43	55	SUCCESS
CDC42EP1	11135	.	GRCh37	22	37964226	37964226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	63	0	ENST00000249014.4:c.575C>T	p.Ser192Phe	p.S192F	ENST00000249014	NM_152243.2	192	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS13949.1	575	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTCTCTCT	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF14957,hmmpanther:PTHR15344:SF7,hmmpanther:PTHR15344	.	.	ENSP00000249014	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000249014	Transcript	.	.	ENSG00000128283	17014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.184)	.	deleterious(0)	.	BORG5_HUMAN	CDC42EP1	HGNC	B0QYC8_HUMAN,B0QYC7_HUMAN,B0QYC6_HUMAN	.	UPI000012F5E7	SNV	CDC42EP1,missense_variant,p.Ser192Phe,ENST00000249014,;CDC42EP1,downstream_gene_variant,,ENST00000434728,;LGALS2,downstream_gene_variant,,ENST00000416480,;CDC42EP1,downstream_gene_variant,,ENST00000415670,;LGALS2,downstream_gene_variant,,ENST00000215886,;CDC42EP1,downstream_gene_variant,,ENST00000430687,;	995	63	64	SUCCESS
TRIOBP	11078	.	GRCh37	22	38130772	38130773	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs756145453	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	93	0	ENST00000406386.3:c.4436dup	p.Thr1480HisfsTer22	p.T1480Hfs*22	ENST00000406386	NM_001039141.2	1477	tgg/tGgg	0	G:0.0043	.	.	.	.	G	W/WX	protein_coding	YES	CCDS43015.1	4429-4430	INDELOCATOR|VARSCANI	.	GAGCATGGGGG	NONE	.	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271	.	G:0.0016	ENSP00000384312	.	9/24	.	.	.	.	.	.	.	.	rs756145453	9/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	7	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	insertion	TRIOBP,frameshift_variant,p.Thr1480HisfsTer22,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;	4684-4685	93	84	SUCCESS
APOBEC3G	60489	.	GRCh37	22	39482298	39482298	+	synonymous_variant	Silent	SNP	C	C	T	rs1311285643	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	112	0	ENST00000407997.3:c.750C>T	p.His250=	p.H250=	ENST00000407997	NM_021822.3	250	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS13984.1	750	RADIA|MUTECT|MUSE|VARSCANS	.	AAACACGGTTT	NONE	.	.	hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF23,Pfam_domain:PF08210,Superfamily_domains:SSF53927	.	.	ENSP00000385057	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000407997	Transcript	.	.	ENSG00000239713	17357	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABC3G_HUMAN	APOBEC3G	HGNC	B2LYL6_HUMAN	.	UPI00000709E2	SNV	APOBEC3G,synonymous_variant,p.%3D,ENST00000452957,;APOBEC3G,synonymous_variant,p.%3D,ENST00000407997,;APOBEC3G,downstream_gene_variant,,ENST00000461827,;APOBEC3G,downstream_gene_variant,,ENST00000494150,;APOBEC3G,downstream_gene_variant,,ENST00000480000,;APOBEC3G,downstream_gene_variant,,ENST00000481958,;	1107	112	115	SUCCESS
EFCAB6	64800	.	GRCh37	22	44168976	44168976	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	12	90	0	ENST00000262726.7:c.147T>C	p.Ala49=	p.A49=	ENST00000262726	NM_022785.3	49	gcT/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS14049.1	147	RADIA|MUTECT|MUSE|VARSCANS	.	GCAACAGCTGT	NONE	.	.	.	.	.	ENSP00000262726	.	4/32	.	.	.	.	.	.	.	.	.	4/32	PASS	ENST00000262726	Transcript	.	.	ENSG00000186976	24204	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EFCB6_HUMAN	EFCAB6	HGNC	.	.	UPI0000225CD7	SNV	EFCAB6,synonymous_variant,p.%3D,ENST00000262726,;EFCAB6,intron_variant,,ENST00000358439,;EFCAB6,intron_variant,,ENST00000356087,;EFCAB6,intron_variant,,ENST00000396231,;EFCAB6,intron_variant,,ENST00000476600,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	401	90	104	SUCCESS
CELSR1	9620	.	GRCh37	22	46859827	46859827	+	synonymous_variant	Silent	SNP	G	G	A	rs201238170	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	101	0	ENST00000262738.3:c.3960C>T	p.Ser1320=	p.S1320=	ENST00000262738	NM_014246.1	1320	tcC/tcT	0	.	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS14076.1	3960	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACGGACAC	NONE	byCluster|by1000G	.	SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR24026,PROSITE_profiles:PS50026	A:0.001	.	ENSP00000262738	A:0	2/35	.	.	.	.	.	.	.	.	rs201238170,COSM3555499	2/35	PASS	ENST00000262738	Transcript	.	A:0.0002	ENSG00000075275	1850	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,synonymous_variant,p.%3D,ENST00000262738,;CELSR1,synonymous_variant,p.%3D,ENST00000395964,;CELSR1,synonymous_variant,p.%3D,ENST00000454637,;	3960	101	101	SUCCESS
PPP6R2	9701	.	GRCh37	22	50879410	50879410	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs776585873	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	20	80	0	ENST00000216061.5:c.2561del	p.Pro854ArgfsTer23	p.P854Rfs*23	ENST00000216061		852	gCc/gc	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS56235.1	2456	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGAGGCCCCCC	NONE	.	.	.	.	.	ENSP00000379090	.	21/23	.	.	.	.	.	.	.	.	rs776585873,COSM1417101,COSM1417100	21/23	PASS	ENST00000395741	Transcript	.	.	ENSG00000100239	19253	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1,1	.	.	.	.	.	0,1,1	PP6R2_HUMAN	PPP6R2	HGNC	.	.	UPI0000453B02	deletion	PPP6R2,frameshift_variant,p.Pro821ArgfsTer23,ENST00000395741,;PPP6R2,frameshift_variant,p.Pro821ArgfsTer23,ENST00000359139,;PPP6R2,frameshift_variant,p.Pro573ArgfsTer23,ENST00000401672,;PPP6R2,frameshift_variant,p.Pro450ArgfsTer23,ENST00000427222,;PPP6R2,frameshift_variant,p.Pro820ArgfsTer23,ENST00000395744,;PPP6R2,frameshift_variant,p.Pro854ArgfsTer23,ENST00000216061,;SBF1,downstream_gene_variant,,ENST00000380817,;PPP6R2,non_coding_transcript_exon_variant,,ENST00000473283,;PPP6R2,upstream_gene_variant,,ENST00000470046,;	2831	80	101	SUCCESS
AFF3	3899	.	GRCh37	2	100289003	100289003	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	88	0	ENST00000409236.2:c.1140A>T	p.Glu380Asp	p.E380D	ENST00000409236		380	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS33258.1	1215	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTTCATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110	.	.	ENSP00000348793	.	11/24	.	.	.	.	.	.	.	.	.	11/24	PASS	ENST00000356421	Transcript	.	.	ENSG00000144218	6473	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.29)	.	AFF3_HUMAN	AFF3	HGNC	.	.	UPI000041098C	SNV	AFF3,missense_variant,p.Glu405Asp,ENST00000409579,;AFF3,missense_variant,p.Glu405Asp,ENST00000356421,;AFF3,missense_variant,p.Glu380Asp,ENST00000317233,;AFF3,missense_variant,p.Glu380Asp,ENST00000409236,;AFF3,missense_variant,p.Glu161Asp,ENST00000430789,;	1359	88	62	SUCCESS
TGFBRAP1	9392	.	GRCh37	2	105924248	105924248	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs759342925	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	22	81	0	ENST00000258449.1:c.511C>G	p.Leu171Val	p.L171V	ENST00000258449	NM_001142621.1	171	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS2067.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGAGGGGCT	NONE	.	.	PROSITE_profiles:PS50219,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF16,Pfam_domain:PF00780	.	.	ENSP00000377027	.	2/12	.	.	.	.	.	.	.	.	rs759342925	2/12	PASS	ENST00000393359	Transcript	.	.	ENSG00000135966	16836	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.64)	.	TGFA1_HUMAN	TGFBRAP1	HGNC	.	.	UPI0000072CA9	SNV	TGFBRAP1,missense_variant,p.Leu171Val,ENST00000393359,;TGFBRAP1,missense_variant,p.Leu171Val,ENST00000258449,;	938	81	85	SUCCESS
SULT1C3	442038	.	GRCh37	2	108881280	108881280	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	12	145	0	ENST00000329106.2:c.622-1G>T		p.X208_splice	ENST00000329106	NM_001008743.1	208		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33267.1	.	MUTECT|MUSE|VARSCANS	.	ATACAGGACCC	NONE	.	.	.	.	.	ENSP00000333310	.	.	.	.	.	.	.	.	.	.	COSM3565058	.	PASS	ENST00000329106	Transcript	.	.	ENSG00000196228	33543	.	.	HIGH	5/6	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	ST1C3_HUMAN	SULT1C3	HGNC	.	.	UPI000004348F	SNV	SULT1C3,splice_acceptor_variant,,ENST00000329106,;SULT1C3,downstream_gene_variant,,ENST00000376700,;	.	145	137	SUCCESS
SH3RF3	344558	.	GRCh37	2	110049067	110049067	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777247558	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	116	0	ENST00000309415.6:c.1514C>T	p.Ala505Val	p.A505V	ENST00000309415	NM_001099289.1	505	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	.	1514	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCGTCTC	NONE	byFrequency	.	PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044	.	.	ENSP00000309186	.	6/10	.	.	.	.	.	.	.	.	rs777247558	6/10	PASS	ENST00000309415	Transcript	.	.	ENSG00000172985	24699	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.01)	.	deleterious(0)	.	SH3R3_HUMAN	SH3RF3	HGNC	C9JNJ4_HUMAN	.	UPI0000DD7AEA	SNV	SH3RF3,missense_variant,p.Ala505Val,ENST00000309415,;SH3RF3,missense_variant,p.Ala505Val,ENST00000418513,;	1514	116	75	SUCCESS
SLC20A1	6574	.	GRCh37	2	113418726	113418726	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1477896604	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	67	0	ENST00000272542.3:c.1801A>G	p.Ser601Gly	p.S601G	ENST00000272542	NM_005415.4	601	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS2099.1	1801	RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCAGTATT	NONE	.	.	hmmpanther:PTHR11101:SF46,hmmpanther:PTHR11101,Pfam_domain:PF01384	.	.	ENSP00000272542	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000272542	Transcript	.	.	ENSG00000144136	10946	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.269)	.	deleterious(0.02)	.	S20A1_HUMAN	SLC20A1	HGNC	A7LNJ1_HUMAN	.	UPI0000071362	SNV	SLC20A1,missense_variant,p.Ser601Gly,ENST00000272542,;SLC20A1,downstream_gene_variant,,ENST00000433924,;SLC20A1,downstream_gene_variant,,ENST00000480984,;SLC20A1,non_coding_transcript_exon_variant,,ENST00000490674,;SLC20A1,downstream_gene_variant,,ENST00000413135,;SLC20A1,downstream_gene_variant,,ENST00000498224,;SLC20A1,downstream_gene_variant,,ENST00000456264,;	2340	67	70	SUCCESS
SCTR	6344	.	GRCh37	2	120199162	120199162	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764337321	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	81	0	ENST00000019103.5:c.1154C>T	p.Ala385Val	p.A385V	ENST00000019103	NM_002980.2	385	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS2127.1	1154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACGGCCACC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF29,PROSITE_patterns:PS00650,Superfamily_domains:SSF81321,Prints_domain:PR00249	.	.	ENSP00000019103	.	12/13	.	.	.	.	.	.	.	.	rs764337321	12/13	PASS	ENST00000019103	Transcript	.	.	ENSG00000080293	10608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.871)	.	deleterious(0.02)	.	SCTR_HUMAN	SCTR	HGNC	.	.	UPI000004A2E8	SNV	SCTR,missense_variant,p.Ala385Val,ENST00000019103,;TMEM37,downstream_gene_variant,,ENST00000306406,;TMEM37,downstream_gene_variant,,ENST00000417645,;TMEM37,downstream_gene_variant,,ENST00000409826,;TMEM37,downstream_gene_variant,,ENST00000465296,;SCTR,non_coding_transcript_exon_variant,,ENST00000494326,;SCTR,non_coding_transcript_exon_variant,,ENST00000485440,;	1422	81	70	SUCCESS
EPB41L5	57669	.	GRCh37	2	120836150	120836150	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs35675992	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	26	95	0	ENST00000263713.5:c.802del	p.Trp268GlyfsTer4	p.W268Gfs*4	ENST00000263713	NM_020909.3	266	Ttt/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS2130.1	796	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTTATTTTTT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR23280:SF15,hmmpanther:PTHR23280,Pfam_domain:PF09380,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	.	ENSP00000263713	.	10/25	.	.	.	.	.	.	.	.	COSM1399094,COSM1399095	10/25	PASS	ENST00000263713	Transcript	.	.	ENSG00000115109	19819	6	.	HIGH	.	PRIMARY	.	.	.	.	3	1,1	.	.	.	.	.	1,1	E41L5_HUMAN	EPB41L5	HGNC	Q53RT1_HUMAN,Q4ZG32_HUMAN	.	UPI00001B078A	deletion	EPB41L5,frameshift_variant,p.Trp268GlyfsTer4,ENST00000331393,;EPB41L5,frameshift_variant,p.Trp268GlyfsTer4,ENST00000443902,;EPB41L5,frameshift_variant,p.Trp268GlyfsTer4,ENST00000263713,;EPB41L5,frameshift_variant,p.Trp268GlyfsTer4,ENST00000452780,;EPB41L5,frameshift_variant,p.Trp268GlyfsTer4,ENST00000443124,;EPB41L5,downstream_gene_variant,,ENST00000466241,;	1010	95	115	SUCCESS
SNTG2	54221	.	GRCh37	2	1271240	1271240	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	137	17	169	0	ENST00000308624.5:c.1181G>A	p.Gly394Asp	p.G394D	ENST00000308624	NM_018968.3	394	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS46220.1	1181	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGGCCATG	NONE	.	.	Superfamily_domains:SSF50729,hmmpanther:PTHR10554:SF3,hmmpanther:PTHR10554	.	.	ENSP00000311837	.	14/17	.	.	.	.	.	.	.	.	COSM1006150	14/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	possibly_damaging(0.78)	.	tolerated(0.16)	1	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,missense_variant,p.Gly394Asp,ENST00000308624,;SNTG2,missense_variant,p.Gly267Asp,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;	1310	169	154	SUCCESS
TMEM163	81615	.	GRCh37	2	135470783	135470783	+	synonymous_variant	Silent	SNP	C	C	T	rs543616754	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	91	0	ENST00000281924.6:c.309G>A	p.Ala103=	p.A103=	ENST00000281924	NM_030923.4	103	gcG/gcA	0	.	A:0	.	A:0	.	T	A	protein_coding	YES	CCDS2172.1	309	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCGCGAG	NONE	by1000G	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:0054606,Gene3D:3h90A01,hmmpanther:PTHR31937:SF2,hmmpanther:PTHR31937	A:0.001	.	ENSP00000281924	A:0	2/8	.	.	.	.	.	.	.	.	rs543616754,COSM1165132	2/8	PASS	ENST00000281924	Transcript	.	A:0.0002	ENSG00000152128	25380	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	A:0	.	0,1	TM163_HUMAN	TMEM163	HGNC	.	.	UPI000007217C	SNV	TMEM163,synonymous_variant,p.%3D,ENST00000281924,;	374	91	87	SUCCESS
ZRANB3	84083	.	GRCh37	2	135985392	135985392	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	11	90	0	ENST00000264159.6:c.2148G>C	p.Gln716His	p.Q716H	ENST00000264159	NM_032143.2	716	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS46419.1	2148	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCTGGGA	NONE	.	.	.	.	.	ENSP00000264159	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000264159	Transcript	.	.	ENSG00000121988	25249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.06)	.	ZRAB3_HUMAN	ZRANB3	HGNC	.	.	UPI0000509F0C	SNV	ZRANB3,missense_variant,p.Gln716His,ENST00000401392,;ZRANB3,missense_variant,p.Gln716His,ENST00000536680,;ZRANB3,missense_variant,p.Gln716His,ENST00000264159,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000412849,;ZRANB3,3_prime_UTR_variant,,ENST00000403017,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000495945,;	2265	90	81	SUCCESS
LRP1B	53353	.	GRCh37	2	141299487	141299487	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs757953483	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	127	0	ENST00000389484.3:c.7248T>A	p.Asn2416Lys	p.N2416K	ENST00000389484	NM_018557.2	2416	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS2182.1	7248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATAATTGTC	NONE	.	.	PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000374135	.	44/91	.	.	.	.	.	.	.	.	rs757953483	44/91	PASS	ENST00000389484	Transcript	.	.	ENSG00000168702	6693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,missense_variant,p.Asn2416Lys,ENST00000389484,;	8220	127	107	SUCCESS
LRP1B	53353	.	GRCh37	2	141709436	141709436	+	synonymous_variant	Silent	SNP	G	G	A	rs146639012	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	9	95	0	ENST00000389484.3:c.2961C>T	p.Cys987=	p.C987=	ENST00000389484	NM_018557.2	987	tgC/tgT	0	A:0.0002	A:0.0008	.	A:0	.	A	C	protein_coding	YES	CCDS2182.1	2961	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGCAGTG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261	A:0	A:0.0001	ENSP00000374135	A:0	19/91	.	.	.	.	.	.	.	.	rs146639012	19/91	PASS	ENST00000389484	Transcript	.	A:0.0002	ENSG00000168702	6693	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	LRP1B_HUMAN	LRP1B	HGNC	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN	.	UPI00001B045B	SNV	LRP1B,synonymous_variant,p.%3D,ENST00000389484,;LRP1B,synonymous_variant,p.%3D,ENST00000434794,;	3933	95	75	SUCCESS
SCN3A	6328	.	GRCh37	2	166032889	166032889	+	synonymous_variant	Silent	SNP	A	A	G	rs948132019	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	27	58	0	ENST00000360093.3:c.16T>C	p.Leu6=	p.L6=	ENST00000360093	NM_001081677.1	6	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS33312.1	16	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCAACAGTG	NONE	.	.	.	.	.	ENSP00000283254	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000283254	Transcript	.	.	ENSG00000153253	10590	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCN3A_HUMAN	SCN3A	HGNC	F5H4V8_HUMAN,C9JBM7_HUMAN	.	UPI000002A665	SNV	SCN3A,synonymous_variant,p.%3D,ENST00000440431,;SCN3A,synonymous_variant,p.%3D,ENST00000360093,;SCN3A,synonymous_variant,p.%3D,ENST00000283254,;SCN3A,synonymous_variant,p.%3D,ENST00000453007,;SCN3A,synonymous_variant,p.%3D,ENST00000409101,;	484	58	59	SUCCESS
LRP2	4036	.	GRCh37	2	170033019	170033019	+	synonymous_variant	Silent	SNP	G	G	A	rs898578059	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	88	0	ENST00000263816.3:c.10473C>T	p.Cys3491=	p.C3491=	ENST00000263816	NM_004525.2	3491	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS2232.1	10473	MUTECT|MUSE	.	CACTCGCAAGT	NONE	.	.	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000263816	.	54/79	.	.	.	.	.	.	.	.	COSM1009191	54/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,synonymous_variant,p.%3D,ENST00000263816,;LRP2,downstream_gene_variant,,ENST00000461418,;	10759	88	99	SUCCESS
TTN	7273	.	GRCh37	2	179396488	179396488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	102	1	ENST00000591111.1:c.99931A>G	p.Arg33311Gly	p.R33311G	ENST00000591111		33311	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS59435.1	104854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTGTGCG	BUFFER|p.R25884C|c.77650C>T|3,BUFFER|p.R26009C|c.78025C>T|3,BUFFER|p.R32381C|c.97141C>T|3,BUFFER|p.R32379C|c.97135C>T|3,BUFFER|p.R26076C|c.78226C>T|3	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	358/363	.	.	.	.	.	.	.	.	.	358/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg26012Gly,ENST00000359218,;TTN,missense_variant,p.Arg25887Gly,ENST00000460472,;TTN,missense_variant,p.Arg33311Gly,ENST00000591111,;TTN,missense_variant,p.Arg34952Gly,ENST00000589042,;TTN,missense_variant,p.Arg26079Gly,ENST00000342175,;TTN,missense_variant,p.Arg32384Gly,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,downstream_gene_variant,,ENST00000592161,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000587576,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;	105079	104	78	SUCCESS
TTN	7273	.	GRCh37	2	179588283	179588283	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs727504736	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	21	102	0	ENST00000591111.1:c.20593C>T	p.Arg6865Trp	p.R6865W	ENST00000591111		6865	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS59435.1	21544	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GCACCGGTCTC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	74/363	.	.	.	.	.	.	.	.	rs727504736	74/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg5938Trp,ENST00000342992,;TTN,missense_variant,p.Arg6865Trp,ENST00000591111,;TTN,missense_variant,p.Arg7182Trp,ENST00000589042,;TTN,intron_variant,,ENST00000359218,;TTN,intron_variant,,ENST00000342175,;TTN,intron_variant,,ENST00000460472,;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;	21769	102	125	SUCCESS
CLK1	1195	.	GRCh37	2	201722550	201722550	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	21	142	0	ENST00000321356.4:c.723del	p.Phe241LeufsTer36	p.F241Lfs*36	ENST00000321356	NM_004071.3	241	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS54427.1	849	INDELOCATOR*|VARSCANI*|PINDEL	.	TAGTTCAAAAAC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058:SF2,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000394734	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000434813	Transcript	.	.	ENSG00000013441	2068	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLK1_HUMAN	CLK1	HGNC	.	.	UPI00017A7024	deletion	CLK1,frameshift_variant,p.Phe241LeufsTer36,ENST00000321356,;CLK1,frameshift_variant,p.Phe283LeufsTer36,ENST00000434813,;CLK1,frameshift_variant,p.Phe64LeufsTer36,ENST00000409769,;CLK1,downstream_gene_variant,,ENST00000492793,;CLK1,frameshift_variant,p.Phe241LeufsTer36,ENST00000409403,;CLK1,3_prime_UTR_variant,,ENST00000432425,;CLK1,non_coding_transcript_exon_variant,,ENST00000473565,;CLK1,non_coding_transcript_exon_variant,,ENST00000461981,;CLK1,upstream_gene_variant,,ENST00000496205,;CLK1,upstream_gene_variant,,ENST00000464454,;CLK1,upstream_gene_variant,,ENST00000461326,;CLK1,upstream_gene_variant,,ENST00000472679,;CLK1,downstream_gene_variant,,ENST00000481641,;CLK1,downstream_gene_variant,,ENST00000482590,;	1184	142	135	SUCCESS
ALS2	57679	.	GRCh37	2	202622187	202622187	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	14	113	0	ENST00000264276.6:c.1409T>C	p.Ile470Thr	p.I470T	ENST00000264276	NM_020919.3	470	aTc/aCc	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS42800.1	1409	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGATATCC	NONE	.	.	hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF12	.	.	ENSP00000264276	.	5/34	.	.	.	.	.	.	.	.	.	5/34	PASS	ENST00000264276	Transcript	.	.	ENSG00000003393	443	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.367)	.	deleterious(0.01)	.	ALS2_HUMAN	ALS2	HGNC	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN	.	UPI0000231C77	SNV	ALS2,missense_variant,p.Ile470Thr,ENST00000264276,;ALS2,downstream_gene_variant,,ENST00000467448,;ALS2,downstream_gene_variant,,ENST00000410052,;ALS2,downstream_gene_variant,,ENST00000409632,;ALS2,downstream_gene_variant,,ENST00000496244,;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;ALS2,non_coding_transcript_exon_variant,,ENST00000482789,;	1782	113	111	SUCCESS
ACADL	33	.	GRCh37	2	211081128	211081129	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	92	13	90	0	ENST00000233710.3:c.478dup	p.Gln160ProfsTer21	p.Q160Pfs*21	ENST00000233710	NM_001608.3	160	cag/cCag	0	.	.	.	.	.	G	Q/PX	protein_coding	YES	CCDS2389.1	478-479	INDELOCATOR*|VARSCANI*|PINDEL	.	TCATCTGGGGA	NONE	.	.	hmmpanther:PTHR10909:SF196,hmmpanther:PTHR10909,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645	.	.	ENSP00000233710	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000233710	Transcript	.	.	ENSG00000115361	88	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ACADL_HUMAN	ACADL	HGNC	B4DJN8_HUMAN	.	UPI0000074739	insertion	ACADL,frameshift_variant,p.Gln160ProfsTer21,ENST00000233710,;AC006994.2,intron_variant,,ENST00000412065,;ACADL,non_coding_transcript_exon_variant,,ENST00000482502,;ACADL,downstream_gene_variant,,ENST00000482523,;ACADL,downstream_gene_variant,,ENST00000498120,;	706-707	90	105	SUCCESS
APOB	338	.	GRCh37	2	21231146	21231146	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs780019788	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	15	93	0	ENST00000233242.1:c.8594del	p.Asn2865IlefsTer9	p.N2865Ifs*9	ENST00000233242	NM_000384.2	2865	aAt/at	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS1703.1	8594	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTGTATTTTTT	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	26/29	.	.	.	.	.	.	.	.	rs780019788	26/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Asn2865IlefsTer9,ENST00000233242,;	8722	93	120	SUCCESS
STK36	27148	.	GRCh37	2	219553477	219553477	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	31	123	0	ENST00000295709.3:c.1438A>T	p.Ser480Cys	p.S480C	ENST00000295709	NM_015690.4	480	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS2421.1	1438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGAGCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000295709	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000295709	Transcript	.	.	ENSG00000163482	17209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.16)	.	STK36_HUMAN	STK36	HGNC	C9JDA4_HUMAN,C9J1B8_HUMAN	.	UPI00000342FC	SNV	STK36,missense_variant,p.Ser480Cys,ENST00000392105,;STK36,missense_variant,p.Ser480Cys,ENST00000440309,;STK36,missense_variant,p.Ser480Cys,ENST00000295709,;STK36,missense_variant,p.Ser480Cys,ENST00000392106,;STK36,3_prime_UTR_variant,,ENST00000414413,;STK36,3_prime_UTR_variant,,ENST00000422778,;STK36,non_coding_transcript_exon_variant,,ENST00000470568,;STK36,upstream_gene_variant,,ENST00000486644,;STK36,upstream_gene_variant,,ENST00000492486,;STK36,upstream_gene_variant,,ENST00000480709,;	1717	123	114	SUCCESS
WNT10A	80326	.	GRCh37	2	219745715	219745715	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs765099595	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	6	94	0	ENST00000258411.3:c.-3G>A		p.*1*	ENST00000258411	NM_025216.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2426.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCGCCATG	NONE	.	.	.	.	.	ENSP00000258411	.	1/4	.	.	.	.	.	.	.	.	rs765099595	1/4	PASS	ENST00000258411	Transcript	.	.	ENSG00000135925	13829	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WN10A_HUMAN	WNT10A	HGNC	Q9BTP0_HUMAN,Q05BQ6_HUMAN	.	UPI0000032F2A	SNV	WNT10A,5_prime_UTR_variant,,ENST00000258411,;WNT10A,upstream_gene_variant,,ENST00000458582,;WNT10A,upstream_gene_variant,,ENST00000483911,;	631	94	65	SUCCESS
TUBA4B	80086	.	GRCh37	2	220136240	220136240	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs747029263	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	93	0	ENST00000490341.1:n.710G>A		p.*237*	ENST00000490341				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGCTTTG	NONE	byFrequency	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	rs747029263	4/4	PASS	ENST00000490341	Transcript	.	.	ENSG00000243910	18637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	TUBA4B	HGNC	.	.	.	SNV	TUBA4A,intron_variant,,ENST00000398989,;TUBA4A,intron_variant,,ENST00000427737,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000485041,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000490341,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000473885,;TUBA4B,non_coding_transcript_exon_variant,,ENST00000486997,;	710	93	98	SUCCESS
SPEG	10290	.	GRCh37	2	220313610	220313610	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1331644780	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	38	0	ENST00000312358.7:c.1730C>T	p.Ala577Val	p.A577V	ENST00000312358	NM_005876.4	577	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42824.1	1730	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGCGGGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	.	.	ENSP00000311684	.	4/41	.	.	.	.	.	.	.	.	.	4/41	PASS	ENST00000312358	Transcript	.	.	ENSG00000072195	16901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	.	.	SPEG_HUMAN	SPEG	HGNC	B9A038_HUMAN	.	UPI000066D99E	SNV	SPEG,missense_variant,p.Ala473Val,ENST00000396698,;SPEG,missense_variant,p.Ala577Val,ENST00000312358,;SPEG,5_prime_UTR_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	1862	38	26	SUCCESS
OBSL1	23363	.	GRCh37	2	220435528	220435528	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	387	61	340	0	ENST00000404537.1:c.427del	p.Ala143ArgfsTer5	p.A143Rfs*5	ENST00000404537	NM_015311.2	143	Gcg/cg	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS46520.1	427	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCCGCCCCCC	NONE	.	.	PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385636	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	deletion	OBSL1,frameshift_variant,p.Ala143ArgfsTer5,ENST00000603926,;OBSL1,frameshift_variant,p.Ala143ArgfsTer5,ENST00000373876,;OBSL1,frameshift_variant,p.Ala143ArgfsTer5,ENST00000265318,;OBSL1,frameshift_variant,p.Ala143ArgfsTer5,ENST00000404537,;OBSL1,frameshift_variant,p.Ala143ArgfsTer5,ENST00000373873,;OBSL1,intron_variant,,ENST00000289656,;INHA,upstream_gene_variant,,ENST00000243786,;INHA,intron_variant,,ENST00000489456,;OBSL1,intron_variant,,ENST00000465589,;OBSL1,intron_variant,,ENST00000491370,;OBSL1,upstream_gene_variant,,ENST00000465149,;	484	340	448	SUCCESS
SP110	3431	.	GRCh37	2	231033882	231033882	+	synonymous_variant	Silent	SNP	A	A	G	rs770898382	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	61	0	ENST00000358662.4:c.2028T>C	p.Gly676=	p.G676=	ENST00000358662	NM_004509.3	676	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS2475.1	2100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAACCGAG	NONE	byFrequency	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46,SMART_domains:SM00297,Superfamily_domains:SSF47370	.	.	ENSP00000258381	.	19/19	.	.	.	.	.	.	.	.	rs770898382	19/19	PASS	ENST00000258381	Transcript	.	.	ENSG00000135899	5401	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP110_HUMAN	SP110	HGNC	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN	.	UPI000013CFC9	SNV	SP110,synonymous_variant,p.%3D,ENST00000358662,;SP110,synonymous_variant,p.%3D,ENST00000258381,;AC009950.2,intron_variant,,ENST00000609120,;AC009950.2,downstream_gene_variant,,ENST00000445199,;AC009950.2,upstream_gene_variant,,ENST00000600787,;AC009950.2,upstream_gene_variant,,ENST00000594622,;AC009950.2,upstream_gene_variant,,ENST00000454058,;AC009950.2,upstream_gene_variant,,ENST00000595586,;SP110,non_coding_transcript_exon_variant,,ENST00000480916,;SP110,non_coding_transcript_exon_variant,,ENST00000477068,;SP110,non_coding_transcript_exon_variant,,ENST00000463022,;SP110,non_coding_transcript_exon_variant,,ENST00000483067,;	2178	61	63	SUCCESS
ITM2C	81618	.	GRCh37	2	231738183	231738183	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200829583	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	67	0	ENST00000326427.6:c.172G>A	p.Val58Met	p.V58M	ENST00000326427	NM_030926.4	58	Gtg/Atg	0	A:0.0002	A:0	.	A:0	.	A	V/M	protein_coding	YES	CCDS2479.1	172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGTGTGC	NONE	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10962:SF5,hmmpanther:PTHR10962	A:0.001	A:0	ENSP00000322730	A:0.001	2/6	.	.	.	.	.	.	.	.	rs200829583	2/6	PASS	ENST00000326427	Transcript	.	A:0.0004	ENSG00000135916	6175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	A:0	tolerated(0.25)	.	ITM2C_HUMAN	ITM2C	HGNC	F5H4I5_HUMAN,E7EUS6_HUMAN,C9JG41_HUMAN,B8ZZM6_HUMAN	.	UPI0000001BF2	SNV	ITM2C,missense_variant,p.Val58Met,ENST00000326427,;ITM2C,missense_variant,p.Val58Met,ENST00000457215,;ITM2C,missense_variant,p.Val58Met,ENST00000326407,;ITM2C,5_prime_UTR_variant,,ENST00000543957,;ITM2C,5_prime_UTR_variant,,ENST00000418408,;ITM2C,5_prime_UTR_variant,,ENST00000409704,;ITM2C,5_prime_UTR_variant,,ENST00000541852,;ITM2C,intron_variant,,ENST00000335005,;ITM2C,non_coding_transcript_exon_variant,,ENST00000492029,;	298	67	73	SUCCESS
C2orf57	0	.	GRCh37	2	232458491	232458491	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	42	0	ENST00000313965.2:c.829A>G	p.Thr277Ala	p.T277A	ENST00000313965	NM_152614.2	277	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS2487.1	829	MUTECT|MUSE	.	CCATGACCAGC	NONE	.	.	.	.	.	ENSP00000315557	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000313965	Transcript	.	.	ENSG00000177673	28563	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.801)	.	deleterious(0.01)	.	CB057_HUMAN	C2orf57	HGNC	.	.	UPI000013F6CA	SNV	C2orf57,missense_variant,p.Thr277Ala,ENST00000313965,;	917	42	53	SUCCESS
USP40	55230	.	GRCh37	2	234428302	234428302	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs566859361	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	153	62	244	1	ENST00000251722.6:c.2338C>T	p.Arg780Ter	p.R780*	ENST00000251722		780	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46547.1	2374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCGAATAT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24006:SF423,hmmpanther:PTHR24006	.	.	ENSP00000415434	.	17/31	.	.	.	.	.	.	.	.	rs566859361	17/31	PASS	ENST00000450966	Transcript	.	.	ENSG00000085982	20069	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP40_HUMAN	USP40	HGNC	.	.	UPI0000232F06	SNV	USP40,stop_gained,p.Arg780Ter,ENST00000251722,;USP40,stop_gained,p.Arg75Ter,ENST00000452724,;USP40,stop_gained,p.Arg780Ter,ENST00000427112,;USP40,stop_gained,p.Arg792Ter,ENST00000450966,;	2374	245	215	SUCCESS
SCLY	51540	.	GRCh37	2	239006944	239006946	+	inframe_deletion	In_Frame_Del	DEL	TCG	TCG	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TCG	TCG	.	.	.	.	.	.	.	.	.	.	.	.	.	92	8	102	0	ENST00000254663.6:c.1314_1316del	p.Val439del	p.V439del	ENST00000254663	NM_016510.5	437	cTCGtc/ctc	0	.	.	.	.	.	-	LV/L	protein_coding	YES	CCDS2524.2	1310-1312	INDELOCATOR*|PINDEL	.	TGGACCTCGTCGTG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.90.1150.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383	.	.	ENSP00000254663	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000254663	Transcript	.	.	ENSG00000132330	18161	4	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCLY_HUMAN	SCLY	HGNC	B4DDP9_HUMAN	.	UPI0000EE3842	deletion	SCLY,inframe_deletion,p.Val337del,ENST00000422984,;SCLY,inframe_deletion,p.Val225del,ENST00000429612,;SCLY,inframe_deletion,p.Val431del,ENST00000555827,;SCLY,inframe_deletion,p.Val439del,ENST00000254663,;SCLY,3_prime_UTR_variant,,ENST00000450965,;SCLY,intron_variant,,ENST00000437134,;ESPNL,upstream_gene_variant,,ENST00000343063,;SCLY,downstream_gene_variant,,ENST00000433750,;ESPNL,upstream_gene_variant,,ENST00000409169,;SCLY,downstream_gene_variant,,ENST00000412508,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,downstream_gene_variant,,ENST00000463433,;	1452-1454	102	100	SUCCESS
ESPNL	339768	.	GRCh37	2	239039675	239039675	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs865881007	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	64	0	ENST00000343063.3:c.2320C>T	p.Arg774Trp	p.R774W	ENST00000343063	NM_194312.2	774	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS2525.1	2320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGCGGGGC	NONE	.	.	hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF0	.	.	ENSP00000339115	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000343063	Transcript	.	.	ENSG00000144488	27937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	deleterious(0.03)	.	ESPNL_HUMAN	ESPNL	HGNC	C9J6L8_HUMAN	.	UPI000022BC90	SNV	ESPNL,missense_variant,p.Arg774Trp,ENST00000343063,;ESPNL,missense_variant,p.Arg406Trp,ENST00000409506,;ESPNL,missense_variant,p.Arg730Trp,ENST00000409169,;ESPNL,downstream_gene_variant,,ENST00000423032,;ESPNL,non_coding_transcript_exon_variant,,ENST00000477241,;	2583	64	73	SUCCESS
HDAC4	9759	.	GRCh37	2	240056341	240056341	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	66	0	ENST00000345617.3:c.979-2A>G		p.X327_splice	ENST00000345617	NM_006037.3	327		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2529.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCTGGGGA	NONE	.	.	.	.	.	ENSP00000264606	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000345617	Transcript	.	.	ENSG00000068024	14063	.	.	HIGH	9/26	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HDAC4_HUMAN	HDAC4	HGNC	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN	.	UPI000013D541	SNV	HDAC4,splice_acceptor_variant,,ENST00000541256,;HDAC4,splice_acceptor_variant,,ENST00000445704,;HDAC4,splice_acceptor_variant,,ENST00000543185,;HDAC4,splice_acceptor_variant,,ENST00000345617,;HDAC4,splice_acceptor_variant,,ENST00000553145,;HDAC4,splice_acceptor_variant,,ENST00000535493,;HDAC4,splice_acceptor_variant,,ENST00000463007,;HDAC4,splice_acceptor_variant,,ENST00000493582,;HDAC4,splice_acceptor_variant,,ENST00000461113,;	.	66	71	SUCCESS
OR6B2	389090	.	GRCh37	2	240969782	240969782	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	44	182	0	ENST00000402971.2:c.65G>A	p.Gly22Glu	p.G22E	ENST00000402971	NM_001005853.1	22	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS46559.1	65	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCCTGGG	NONE	.	.	hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF106,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000384563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000402971	Transcript	.	.	ENSG00000182083	15041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	OR6B2_HUMAN	OR6B2	HGNC	I0EZ57_HUMAN	.	UPI0000061EBF	SNV	OR6B2,missense_variant,p.Gly22Glu,ENST00000402971,;NDUFA10,upstream_gene_variant,,ENST00000252711,;	125	182	148	SUCCESS
HADHA	3030	.	GRCh37	2	26435330	26435330	+	intron_variant	Intron	SNP	A	A	T	rs1412547296	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	74	1	ENST00000380649.3:c.975+109T>A		p.*325*	ENST00000380649	NM_000182.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1721.1	.	MUTECT|MUSE	.	AAAAAATTTTT	NONE	.	.	.	.	.	ENSP00000370023	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000380649	Transcript	.	.	ENSG00000084754	4801	.	.	MODIFIER	10/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECHA_HUMAN	HADHA	HGNC	Q9UQC5_HUMAN,E9KL44_HUMAN,B4DDZ5_HUMAN	.	UPI0000129B6B	SNV	HADHA,3_prime_UTR_variant,,ENST00000457468,;HADHA,intron_variant,,ENST00000380649,;HADHA,non_coding_transcript_exon_variant,,ENST00000471743,;	.	75	96	SUCCESS
CAD	790	.	GRCh37	2	27454347	27454347	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	21	50	0	ENST00000264705.4:c.2299G>A	p.Gly767Ser	p.G767S	ENST00000264705	NM_004341.3	767	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS1742.1	2299	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGGGCATT	NONE	.	.	hmmpanther:PTHR11405:SF5,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Gene3D:3.30.470.20,Superfamily_domains:SSF56059,Prints_domain:PR00098	.	.	ENSP00000264705	.	16/44	.	.	.	.	.	.	.	.	.	16/44	PASS	ENST00000264705	Transcript	.	.	ENSG00000084774	1424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.8)	.	PYR1_HUMAN	CAD	HGNC	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN	.	UPI000013D558	SNV	CAD,missense_variant,p.Gly767Ser,ENST00000264705,;CAD,missense_variant,p.Gly704Ser,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000458503,;CAD,non_coding_transcript_exon_variant,,ENST00000464159,;CAD,non_coding_transcript_exon_variant,,ENST00000491891,;CAD,upstream_gene_variant,,ENST00000479002,;CAD,upstream_gene_variant,,ENST00000475695,;	2461	50	58	SUCCESS
ALK	238	.	GRCh37	2	30142910	30142910	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141093002	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	12	124	0	ENST00000389048.3:c.616G>A	p.Ala206Thr	p.A206T	ENST00000389048	NM_004304.4	206	Gcg/Acg	0	T:0	T:0.0008	.	T:0	.	T	A/T	protein_coding	YES	CCDS33172.1	616	MUTECT|MUSE	.	TGCCGCGGACA	NONE	byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000373700	T:0	1/29	.	.	.	.	.	.	.	.	rs141093002	1/29	PASS	ENST00000389048	Transcript	.	T:0.0002	ENSG00000171094	427	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	T:0	tolerated_low_confidence(0.06)	.	ALK_HUMAN	ALK	HGNC	Q580I3_HUMAN	.	UPI00001684DA	SNV	ALK,missense_variant,p.Ala206Thr,ENST00000389048,;ALK,missense_variant,p.Ala206Thr,ENST00000431873,;	1523	124	180	SUCCESS
TRAPPC12	51112	.	GRCh37	2	3392013	3392013	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	87	0	ENST00000324266.5:c.619A>G	p.Ser207Gly	p.S207G	ENST00000324266	NM_016030.5	207	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS1652.1	619	MUTECT|MUSE	.	GCCTCAGCACG	NONE	.	.	hmmpanther:PTHR21581:SF1,hmmpanther:PTHR21581	.	.	ENSP00000324318	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000324266	Transcript	.	.	ENSG00000171853	24284	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.986)	.	deleterious_low_confidence(0)	.	TPC12_HUMAN	TRAPPC12	HGNC	Q53S18_HUMAN,Q53QD4_HUMAN	.	UPI000014132D	SNV	TRAPPC12,missense_variant,p.Ser207Gly,ENST00000382110,;TRAPPC12,missense_variant,p.Ser207Gly,ENST00000324266,;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,missense_variant,p.Ser40Gly,ENST00000411973,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;	814	87	79	SUCCESS
CEBPZ	10153	.	GRCh37	2	37449694	37449694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	51	0	ENST00000234170.5:c.1894G>A	p.Glu632Lys	p.E632K	ENST00000234170	NM_005760.2	632	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1787.1	1894	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTCATCAT	NONE	.	.	hmmpanther:PTHR12048,Pfam_domain:PF03914	.	.	ENSP00000234170	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000234170	Transcript	.	.	ENSG00000115816	24218	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0.05)	.	CEBPZ_HUMAN	CEBPZ	HGNC	.	.	UPI0000072AAB	SNV	CEBPZ,missense_variant,p.Glu632Lys,ENST00000234170,;	2040	51	48	SUCCESS
SLC8A1	6546	.	GRCh37	2	40656189	40656191	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	AAG	AAG	.	.	.	.	.	.	.	.	.	.	.	.	.	87	12	94	0	ENST00000332839.4:c.1230_1232del	p.Phe411del	p.F411del	ENST00000332839	NM_021097.2	410	ttCTTt/ttt	0	.	.	.	.	.	-	FF/F	protein_coding	YES	CCDS1806.1	1230-1232	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTCAAAGAAGAT	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072	.	.	ENSP00000384763	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000403092	Transcript	.	.	ENSG00000183023	11068	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NAC1_HUMAN	SLC8A1	HGNC	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN	.	UPI000012FC46	deletion	SLC8A1,inframe_deletion,p.Phe411del,ENST00000408028,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000406785,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000542024,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000403092,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000405269,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000332839,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000542756,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000406391,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000405901,;SLC8A1,inframe_deletion,p.Phe411del,ENST00000402441,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,inframe_deletion,p.Phe408del,ENST00000407929,;	1264-1266	94	99	SUCCESS
SRBD1	55133	.	GRCh37	2	45829136	45829136	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs765414795	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	90	0	ENST00000263736.4:c.167C>A	p.Pro56His	p.P56H	ENST00000263736	NM_018079.4	56	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS1823.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGGGAGGG	NONE	.	.	hmmpanther:PTHR10724:SF1,hmmpanther:PTHR10724	.	.	ENSP00000263736	.	3/21	.	.	.	.	.	.	.	.	rs765414795	3/21	PASS	ENST00000263736	Transcript	.	.	ENSG00000068784	25521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	.	deleterious_low_confidence(0.01)	.	SRBD1_HUMAN	SRBD1	HGNC	B7Z6X7_HUMAN	.	UPI000004CC06	SNV	SRBD1,missense_variant,p.Pro56His,ENST00000263736,;SRBD1,non_coding_transcript_exon_variant,,ENST00000461805,;	230	90	103	SUCCESS
CNRIP1	25927	.	GRCh37	2	68521038	68521038	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1238563543	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	13	100	0	ENST00000263655.3:c.451G>A	p.Glu151Lys	p.E151K	ENST00000263655	NM_015463.2	151	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS1886.1	451	RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCGTTGG	NONE	.	.	hmmpanther:PTHR31952:SF1,hmmpanther:PTHR31952,Pfam_domain:PF15043	.	.	ENSP00000263655	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000263655	Transcript	.	.	ENSG00000119865	24546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.871)	.	deleterious(0)	.	CNRP1_HUMAN	CNRIP1	HGNC	.	.	UPI0000070FBE	SNV	CNRIP1,missense_variant,p.Glu151Lys,ENST00000263655,;CNRIP1,intron_variant,,ENST00000409559,;CNRIP1,non_coding_transcript_exon_variant,,ENST00000481714,;	1057	100	99	SUCCESS
ASPRV1	151516	.	GRCh37	2	70188363	70188363	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781731211	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	65	0	ENST00000320256.4:c.458T>C	p.Leu153Pro	p.L153P	ENST00000320256	NM_152792.2	153	cTc/cCc	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS1897.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGAGCCTA	NONE	.	.	.	.	.	ENSP00000315383	.	1/1	.	.	.	.	.	.	.	.	rs781731211	1/1	PASS	ENST00000320256	Transcript	.	.	ENSG00000244617	26321	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	APRV1_HUMAN	ASPRV1	HGNC	.	.	UPI0000140820	SNV	ASPRV1,missense_variant,p.Leu153Pro,ENST00000320256,;PCBP1-AS1,downstream_gene_variant,,ENST00000413436,;PCBP1-AS1,downstream_gene_variant,,ENST00000457076,;PCBP1-AS1,downstream_gene_variant,,ENST00000418564,;PCBP1-AS1,downstream_gene_variant,,ENST00000415222,;PCBP1-AS1,downstream_gene_variant,,ENST00000435880,;PCBP1-AS1,downstream_gene_variant,,ENST00000596259,;PCBP1-AS1,downstream_gene_variant,,ENST00000419542,;	1035	65	66	SUCCESS
MPHOSPH10	10199	.	GRCh37	2	71377061	71377061	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	377	116	448	0	ENST00000244230.2:c.1966del	p.Met656CysfsTer24	p.M656Cfs*24	ENST00000244230	NM_005791.2	654	gtA/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS1916.1	1962	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAGTAAAAAT	NONE	.	.	hmmpanther:PTHR17039,Pfam_domain:PF04006,PIRSF_domain:PIRSF017300	.	.	ENSP00000244230	.	11/11	.	.	.	.	.	.	.	.	COSM4095419	11/11	PASS	ENST00000244230	Transcript	.	.	ENSG00000124383	7213	4	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	MPP10_HUMAN	MPHOSPH10	HGNC	.	.	UPI000012F41D	deletion	MPHOSPH10,frameshift_variant,p.Met656CysfsTer24,ENST00000244230,;MPHOSPH10,non_coding_transcript_exon_variant,,ENST00000493360,;MPHOSPH10,downstream_gene_variant,,ENST00000476969,;	2314	448	493	SUCCESS
SEMA4F	10505	.	GRCh37	2	74902504	74902504	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	13	88	0	ENST00000357877.2:c.1365G>A	p.Leu455=	p.L455=	ENST00000357877	NM_004263.4	455	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS1955.1	1365	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTGGGGAC	NONE	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,PROSITE_profiles:PS51004	.	.	ENSP00000350547	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000357877	Transcript	.	.	ENSG00000135622	10734	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM4F_HUMAN	SEMA4F	HGNC	.	.	UPI0000001BF5	SNV	SEMA4F,synonymous_variant,p.%3D,ENST00000357877,;SEMA4F,synonymous_variant,p.%3D,ENST00000339773,;SEMA4F,downstream_gene_variant,,ENST00000453930,;SEMA4F,downstream_gene_variant,,ENST00000434486,;SEMA4F,intron_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,downstream_gene_variant,,ENST00000458114,;	1514	88	84	SUCCESS
REG3A	5068	.	GRCh37	2	79386545	79386545	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	9	94	0	ENST00000305165.2:c.-14A>G		p.*5*	ENST00000305165				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1965.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGACTTGAGGA	NONE	.	.	.	.	.	ENSP00000377456	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000393878	Transcript	.	.	ENSG00000172016	8601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	REG3A_HUMAN	REG3A	HGNC	Q53S56_HUMAN	.	UPI0000001C5B	SNV	REG3A,splice_region_variant,,ENST00000409839,;REG3A,5_prime_UTR_variant,,ENST00000305165,;REG3A,5_prime_UTR_variant,,ENST00000393878,;AC011754.1,intron_variant,,ENST00000415201,;REG3A,splice_region_variant,,ENST00000464746,;REG3A,non_coding_transcript_exon_variant,,ENST00000490901,;	242	94	68	SUCCESS
CTNNA2	1496	.	GRCh37	2	80136906	80136906	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	183	35	208	1	ENST00000402739.4:c.1039A>G	p.Ser347Gly	p.S347G	ENST00000402739	NM_001282597.1	347	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS42703.2	1039	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCAGCGAG	NONE	.	.	hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Pfam_domain:PF01044	.	.	ENSP00000418191	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000466387	Transcript	.	.	ENSG00000066032	2510	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.465)	.	tolerated(0.16)	.	CTNA2_HUMAN	CTNNA2	HGNC	F6KRI5_HUMAN,C9J144_HUMAN,C9IZ88_HUMAN	.	UPI00001A3E86	SNV	CTNNA2,missense_variant,p.Ser347Gly,ENST00000496558,;CTNNA2,missense_variant,p.Ser347Gly,ENST00000540488,;CTNNA2,missense_variant,p.Ser381Gly,ENST00000361291,;CTNNA2,missense_variant,p.Ser347Gly,ENST00000466387,;CTNNA2,missense_variant,p.Ser347Gly,ENST00000541047,;CTNNA2,missense_variant,p.Ser347Gly,ENST00000402739,;	1763	209	218	SUCCESS
DNAH6	1768	.	GRCh37	2	84806683	84806684	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	73	0	ENST00000237449.6:c.2115dup	p.Val706SerfsTer7	p.V706Sfs*7	ENST00000237449		703	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS46348.1	2109-2110	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCAAGAAAAA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676	.	.	ENSP00000374045	.	14/77	.	.	.	.	.	.	.	.	.	14/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	insertion	DNAH6,frameshift_variant,p.Val706SerfsTer7,ENST00000237449,;DNAH6,frameshift_variant,p.Val706SerfsTer7,ENST00000398278,;DNAH6,frameshift_variant,p.Val706SerfsTer7,ENST00000389394,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,non_coding_transcript_exon_variant,,ENST00000494025,;	2246-2247	73	100	SUCCESS
IGKV1D-43	28891	.	GRCh37	2	90249341	90249341	+	synonymous_variant	Silent	SNP	C	C	T	rs773530787	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	16	156	0	ENST00000468879.1:c.297C>T	p.Ser99=	p.S99=	ENST00000468879		99	agC/agT	0	.	.	.	.	.	T	S	IG_V_gene	YES	.	297	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCCTGCA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000417961	.	2/2	.	.	.	.	.	.	.	.	rs773530787	2/2	PASS	ENST00000468879	Transcript	.	.	ENSG00000242580	5758	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	IGKV1D-43	HGNC	.	.	UPI0000116191	SNV	IGKV1D-43,synonymous_variant,p.%3D,ENST00000468879,;	478	156	115	SUCCESS
ADRA2B	151	.	GRCh37	2	96781723	96781723	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370956755	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	32	215	0	ENST00000409345.3:c.166G>A	p.Ala56Thr	p.A56T	ENST00000409345	NM_000682.5	56	Gcc/Acc	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS56129.1	166	RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGGCCA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248:SF26,hmmpanther:PTHR24248,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0.0001	ENSP00000387281	.	1/1	.	.	.	.	.	.	.	.	rs370956755	1/1	PASS	ENST00000409345	Transcript	.	.	ENSG00000222040	282	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.967)	.	tolerated(0.16)	.	ADA2B_HUMAN	ADRA2B	HGNC	A2RUS0_HUMAN	.	UPI0000047181	SNV	ADRA2B,missense_variant,p.Ala56Thr,ENST00000409345,;	262	215	196	SUCCESS
CEP97	79598	.	GRCh37	3	101484092	101484092	+	synonymous_variant	Silent	SNP	C	C	T	rs191237856	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	9	127	0	ENST00000341893.3:c.2295C>T	p.Asn765=	p.N765=	ENST00000341893		765	aaC/aaT	0	.	T:0	.	T:0	.	T	N	protein_coding	YES	CCDS2944.1	2295	MUTECT|MUSE|VARSCANS	.	AATAACGAGCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232	T:0	.	ENSP00000342510	T:0.001	11/11	.	.	.	.	.	.	.	.	rs191237856	11/11	PASS	ENST00000341893	Transcript	.	T:0.0002	ENSG00000182504	26244	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	CEP97_HUMAN	CEP97	HGNC	.	.	UPI0000074569	SNV	CEP97,synonymous_variant,p.%3D,ENST00000494050,;CEP97,synonymous_variant,p.%3D,ENST00000327230,;CEP97,synonymous_variant,p.%3D,ENST00000341893,;CEP97,downstream_gene_variant,,ENST00000467655,;	3047	127	109	SUCCESS
TATDN2	9797	.	GRCh37	3	10312434	10312434	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	28	93	0	ENST00000287652.4:c.1568G>A	p.Ser523Asn	p.S523N	ENST00000287652	NM_014760.3	523	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS33698.1	1568	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGCAGCT	NONE	.	.	hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19,Gene3D:3.20.20.140,Pfam_domain:PF01026,Superfamily_domains:SSF51556	.	.	ENSP00000287652	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000287652	Transcript	.	.	ENSG00000157014	28988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	tolerated(0.16)	.	TATD2_HUMAN	TATDN2	HGNC	H7BZJ2_HUMAN	.	UPI000013DEC1	SNV	TATDN2,missense_variant,p.Ser523Asn,ENST00000448281,;TATDN2,missense_variant,p.Ser523Asn,ENST00000287652,;TATDN2,upstream_gene_variant,,ENST00000426850,;RP11-438J1.1,missense_variant,p.Ser466Asn,ENST00000437082,;RP11-438J1.1,3_prime_UTR_variant,,ENST00000450534,;	2619	93	114	SUCCESS
ZXDC	79364	.	GRCh37	3	126180881	126180881	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs943393981	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	6	93	0	ENST00000389709.3:c.1624G>A	p.Val542Ile	p.V542I	ENST00000389709	NM_025112.4	542	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS43145.1	1624	MUTECT|MUSE	.	AGTGACGTCAA	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF74	.	.	ENSP00000374359	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000389709	Transcript	.	.	ENSG00000070476	28160	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.994)	.	deleterious(0.01)	.	ZXDC_HUMAN	ZXDC	HGNC	Q9H891_HUMAN,Q69YU0_HUMAN	.	UPI0000D7A440	SNV	ZXDC,missense_variant,p.Val542Ile,ENST00000389709,;ZXDC,missense_variant,p.Val542Ile,ENST00000336332,;ZXDC,missense_variant,p.Val250Ile,ENST00000515545,;	1678	93	114	SUCCESS
CHST13	166012	.	GRCh37	3	126261099	126261099	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	27	0	ENST00000319340.2:c.704C>T	p.Pro235Leu	p.P235L	ENST00000319340	NM_152889.2	235	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS3039.1	704	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCCGCGCA	NONE	.	.	hmmpanther:PTHR12137:SF31,hmmpanther:PTHR12137,Pfam_domain:PF03567	.	.	ENSP00000317404	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319340	Transcript	.	.	ENSG00000180767	21755	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CHSTD_HUMAN	CHST13	HGNC	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN	.	UPI00000492E5	SNV	CHST13,missense_variant,p.Pro235Leu,ENST00000319340,;C3orf22,intron_variant,,ENST00000505070,;	754	27	22	SUCCESS
ABTB1	80325	.	GRCh37	3	127395229	127395229	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs747538876	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	32	110	0	ENST00000232744.8:c.435C>G	p.Asp145Glu	p.D145E	ENST00000232744		145	gaC/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS3045.1	435	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACACCAA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24413:SF83,hmmpanther:PTHR24413,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000232744	.	5/12	.	.	.	.	.	.	.	.	rs747538876	5/12	PASS	ENST00000232744	Transcript	.	.	ENSG00000114626	18275	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	ABTB1_HUMAN	ABTB1	HGNC	.	.	UPI0000035DA3	SNV	ABTB1,missense_variant,p.Asp3Glu,ENST00000453791,;ABTB1,missense_variant,p.Asp3Glu,ENST00000468137,;ABTB1,missense_variant,p.Asp145Glu,ENST00000232744,;ABTB1,missense_variant,p.Asp3Glu,ENST00000393363,;PODXL2,downstream_gene_variant,,ENST00000342480,;ABTB1,non_coding_transcript_exon_variant,,ENST00000467179,;ABTB1,non_coding_transcript_exon_variant,,ENST00000491633,;ABTB1,downstream_gene_variant,,ENST00000466612,;ABTB1,3_prime_UTR_variant,,ENST00000483857,;ABTB1,3_prime_UTR_variant,,ENST00000475042,;ABTB1,non_coding_transcript_exon_variant,,ENST00000479280,;ABTB1,non_coding_transcript_exon_variant,,ENST00000475265,;ABTB1,non_coding_transcript_exon_variant,,ENST00000464431,;ABTB1,non_coding_transcript_exon_variant,,ENST00000493365,;ABTB1,upstream_gene_variant,,ENST00000478298,;ABTB1,upstream_gene_variant,,ENST00000474129,;ABTB1,upstream_gene_variant,,ENST00000497162,;	521	110	110	SUCCESS
STAG1	10274	.	GRCh37	3	136240141	136240143	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TCA	TCA	.	.	.	.	.	.	.	.	.	.	.	.	.	216	31	269	0	ENST00000383202.2:c.588_590del	p.Asp196del	p.D196del	ENST00000383202	NM_005862.2	196	gaTGAg/gag	0	.	.	.	.	.	-	DE/E	protein_coding	YES	CCDS3090.1	588-590	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATACTCATCATA	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Pfam_domain:PF08514,Superfamily_domains:SSF48371	.	.	ENSP00000372689	.	7/34	.	.	.	.	.	.	.	.	.	7/34	PASS	ENST00000383202	Transcript	.	.	ENSG00000118007	11354	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAG1_HUMAN	STAG1	HGNC	Q4LE48_HUMAN	.	UPI000020A2DE	deletion	STAG1,inframe_deletion,p.Asp196del,ENST00000480733,;STAG1,inframe_deletion,p.Asp196del,ENST00000383202,;STAG1,inframe_deletion,p.Asp196del,ENST00000236698,;STAG1,5_prime_UTR_variant,,ENST00000434713,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;STAG1,non_coding_transcript_exon_variant,,ENST00000462818,;	845-847	269	247	SUCCESS
PAQR9	344838	.	GRCh37	3	142681759	142681759	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	83	0	ENST00000340634.3:c.420C>T	p.His140=	p.H140=	ENST00000340634	NM_198504.2	140	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS3128.1	420	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACGTGCGC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF29,Pfam_domain:PF03006	.	.	ENSP00000341564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340634	Transcript	.	.	ENSG00000188582	30131	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAQR9_HUMAN	PAQR9	HGNC	.	.	UPI00000620A1	SNV	PAQR9,synonymous_variant,p.%3D,ENST00000340634,;U2SURP,upstream_gene_variant,,ENST00000600150,;PAQR9,upstream_gene_variant,,ENST00000492509,;PAQR9,upstream_gene_variant,,ENST00000498470,;RP11-372E1.6,upstream_gene_variant,,ENST00000598787,;RP11-372E1.6,upstream_gene_variant,,ENST00000593321,;RP11-372E1.6,upstream_gene_variant,,ENST00000608686,;RP11-372E1.6,upstream_gene_variant,,ENST00000478823,;RP11-372E1.6,upstream_gene_variant,,ENST00000493825,;RP11-372E1.6,upstream_gene_variant,,ENST00000598139,;RP11-372E1.6,upstream_gene_variant,,ENST00000607937,;RP11-372E1.6,upstream_gene_variant,,ENST00000594095,;RP11-372E1.6,upstream_gene_variant,,ENST00000595248,;RP11-372E1.6,upstream_gene_variant,,ENST00000497652,;RP11-372E1.6,upstream_gene_variant,,ENST00000608349,;RP11-372E1.6,upstream_gene_variant,,ENST00000595774,;RP11-372E1.7,downstream_gene_variant,,ENST00000468434,;	420	83	91	SUCCESS
CP	1356	.	GRCh37	3	148925301	148925301	+	synonymous_variant	Silent	SNP	G	G	A	rs766821938	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	23	130	0	ENST00000264613.6:c.885C>T	p.His295=	p.H295=	ENST00000264613	NM_000096.3	295	caC/caT	0	.	.	.	.	.	A	H	protein_coding	YES	CCDS3141.1	885	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGTGCAC	NONE	byFrequency	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Gene3D:2.60.40.420,Pfam_domain:PF00394,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	5/19	.	.	.	.	.	.	.	.	rs766821938	5/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,synonymous_variant,p.%3D,ENST00000264613,;CP,synonymous_variant,p.%3D,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,synonymous_variant,p.%3D,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	1148	130	151	SUCCESS
MBNL1	4154	.	GRCh37	3	152164531	152164531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	76	0	ENST00000282486.6:c.846G>T	p.Glu282Asp	p.E282D	ENST00000282486		282	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS3165.1	846	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGAGGCAAC	BUFFER|p.R279Q|c.836G>A|4	.	.	hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7	.	.	ENSP00000282486	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000282486	Transcript	.	.	ENSG00000152601	6923	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.55)	.	MBNL1_HUMAN	MBNL1	HGNC	C9JCX1_HUMAN,C9J7P7_HUMAN	.	UPI000003B440	SNV	MBNL1,missense_variant,p.Glu282Asp,ENST00000282486,;MBNL1,missense_variant,p.Glu282Asp,ENST00000498502,;MBNL1,missense_variant,p.Glu225Asp,ENST00000493459,;MBNL1,missense_variant,p.Glu282Asp,ENST00000463374,;MBNL1,intron_variant,,ENST00000478535,;MBNL1,intron_variant,,ENST00000545754,;MBNL1,intron_variant,,ENST00000485509,;MBNL1,intron_variant,,ENST00000324196,;MBNL1,intron_variant,,ENST00000357472,;MBNL1,intron_variant,,ENST00000465907,;MBNL1,intron_variant,,ENST00000282488,;MBNL1,intron_variant,,ENST00000492948,;MBNL1,intron_variant,,ENST00000324210,;MBNL1,intron_variant,,ENST00000355460,;MBNL1,intron_variant,,ENST00000485910,;MBNL1,intron_variant,,ENST00000464596,;MBNL1,downstream_gene_variant,,ENST00000460591,;Y_RNA,upstream_gene_variant,,ENST00000364347,;MBNL1,intron_variant,,ENST00000460166,;	2688	76	72	SUCCESS
METTL6	131965	.	GRCh37	3	15455608	15455608	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	22	103	0	ENST00000383790.3:c.593T>G	p.Leu198Arg	p.L198R	ENST00000383790	NM_152396.2	198	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS43056.1	593	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAAGCATG	NONE	.	.	hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF6,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335	.	.	ENSP00000407613	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000443029	Transcript	.	.	ENSG00000206562	28343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	deleterious(0)	.	METL6_HUMAN	METTL6	HGNC	.	.	UPI000020ABF4	SNV	METTL6,missense_variant,p.Leu67Arg,ENST00000458728,;METTL6,missense_variant,p.Leu198Arg,ENST00000383790,;METTL6,missense_variant,p.Leu153Arg,ENST00000450816,;METTL6,missense_variant,p.Leu198Arg,ENST00000443029,;METTL6,intron_variant,,ENST00000453819,;METTL6,downstream_gene_variant,,ENST00000598878,;METTL6,downstream_gene_variant,,ENST00000383789,;METTL6,non_coding_transcript_exon_variant,,ENST00000485131,;METTL6,non_coding_transcript_exon_variant,,ENST00000489881,;	834	103	132	SUCCESS
PLCH1	23007	.	GRCh37	3	155198960	155198960	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	19	125	0	ENST00000340059.7:c.4879A>G	p.Asn1627Asp	p.N1627D	ENST00000340059	NM_001130960.1	1627	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS46939.1	4879	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATTCACTG	NONE	.	.	.	.	.	ENSP00000345988	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000340059	Transcript	.	.	ENSG00000114805	29185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.69)	.	deleterious_low_confidence(0)	.	PLCH1_HUMAN	PLCH1	HGNC	.	.	UPI00001D800E	SNV	PLCH1,missense_variant,p.Asn1589Asp,ENST00000334686,;PLCH1,missense_variant,p.Asn1589Asp,ENST00000414191,;PLCH1,missense_variant,p.Asn1627Asp,ENST00000340059,;PLCH1,missense_variant,p.Asn1589Asp,ENST00000460012,;PLCH1,3_prime_UTR_variant,,ENST00000447496,;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	4879	125	106	SUCCESS
ZBBX	79740	.	GRCh37	3	167000188	167000188	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	231	39	259	0	ENST00000392766.2:c.1975A>G	p.Arg659Gly	p.R659G	ENST00000392766	NM_001199201.1	659	Aga/Gga	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS56296.1	2092	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTTGATC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000390232	.	19/21	.	.	.	.	.	.	.	.	.	19/21	PASS	ENST00000455345	Transcript	.	.	ENSG00000169064	26245	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.736)	.	deleterious(0)	.	ZBBX_HUMAN	ZBBX	HGNC	C9JVV2_HUMAN	.	UPI000020A746	SNV	ZBBX,missense_variant,p.Arg698Gly,ENST00000455345,;ZBBX,missense_variant,p.Arg659Gly,ENST00000392767,;ZBBX,missense_variant,p.Arg659Gly,ENST00000392766,;ZBBX,missense_variant,p.Arg698Gly,ENST00000307529,;ZBBX,missense_variant,p.Arg630Gly,ENST00000392764,;ZBBX,missense_variant,p.Arg21Gly,ENST00000492642,;ZBBX,synonymous_variant,p.%3D,ENST00000494898,;ZBBX,non_coding_transcript_exon_variant,,ENST00000465071,;ZBBX,upstream_gene_variant,,ENST00000464922,;	2376	259	270	SUCCESS
SAMD7	344658	.	GRCh37	3	169656232	169656233	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs1311379305	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	134	39	153	0	ENST00000335556.3:c.1285dup	p.Cys429LeufsTer9	p.C429Lfs*9	ENST00000335556		427	att/aTtt	0	.	.	.	.	.	T	I/IX	protein_coding	YES	CCDS3209.1	1279-1280	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAACATTTTT	NONE	.	.	.	.	.	ENSP00000391299	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000428432	Transcript	.	.	ENSG00000187033	25394	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAMD7_HUMAN	SAMD7	HGNC	.	.	UPI00001A9D13	insertion	SAMD7,frameshift_variant,p.Cys429LeufsTer9,ENST00000335556,;SAMD7,frameshift_variant,p.Cys429LeufsTer9,ENST00000428432,;RP11-379K17.4,downstream_gene_variant,,ENST00000487580,;RP11-379K17.4,downstream_gene_variant,,ENST00000483289,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;	1668-1669	153	173	SUCCESS
ACTL6A	86	.	GRCh37	3	179294051	179294051	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	19	85	0	ENST00000429709.2:c.523A>G	p.Thr175Ala	p.T175A	ENST00000429709	NM_004301.3	175	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS3231.1	523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCACTCAT	NONE	.	.	hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF191,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000397552	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000429709	Transcript	.	.	ENSG00000136518	24124	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	tolerated(0.08)	.	ACL6A_HUMAN	ACTL6A	HGNC	D3DNS0_HUMAN,C9JQT2_HUMAN	.	UPI0000001655	SNV	ACTL6A,missense_variant,p.Thr133Ala,ENST00000392662,;ACTL6A,missense_variant,p.Thr133Ala,ENST00000450518,;ACTL6A,missense_variant,p.Thr175Ala,ENST00000429709,;ACTL6A,non_coding_transcript_exon_variant,,ENST00000467615,;ACTL6A,downstream_gene_variant,,ENST00000468767,;ACTL6A,3_prime_UTR_variant,,ENST00000487978,;ACTL6A,non_coding_transcript_exon_variant,,ENST00000467383,;ACTL6A,upstream_gene_variant,,ENST00000484312,;ACTL6A,upstream_gene_variant,,ENST00000479056,;ACTL6A,downstream_gene_variant,,ENST00000486471,;ACTL6A,downstream_gene_variant,,ENST00000494843,;	736	85	91	SUCCESS
NDUFB5	4711	.	GRCh37	3	179336273	179336273	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1177470494	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	17	103	0	ENST00000259037.3:c.413C>T	p.Ala138Val	p.A138V	ENST00000259037	NM_002492.3	138	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3234.1	413	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGCCGTCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13178,Pfam_domain:PF09781	.	.	ENSP00000259037	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000259037	Transcript	.	.	ENSG00000136521	7700	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.493)	.	deleterious(0.01)	.	NDUB5_HUMAN	NDUFB5	HGNC	Q05D62_HUMAN	.	UPI00001301D2	SNV	NDUFB5,missense_variant,p.Ala126Val,ENST00000472629,;NDUFB5,missense_variant,p.Ala138Val,ENST00000259037,;NDUFB5,missense_variant,p.Ala155Val,ENST00000482604,;NDUFB5,missense_variant,p.Ala86Val,ENST00000493866,;NDUFB5,intron_variant,,ENST00000471112,;snoU13,upstream_gene_variant,,ENST00000459278,;NDUFB5,non_coding_transcript_exon_variant,,ENST00000473500,;NDUFB5,downstream_gene_variant,,ENST00000496904,;NDUFB5,3_prime_UTR_variant,,ENST00000468210,;NDUFB5,3_prime_UTR_variant,,ENST00000480374,;NDUFB5,3_prime_UTR_variant,,ENST00000359944,;NDUFB5,non_coding_transcript_exon_variant,,ENST00000476587,;NDUFB5,non_coding_transcript_exon_variant,,ENST00000493716,;NDUFB5,non_coding_transcript_exon_variant,,ENST00000491054,;NDUFB5,downstream_gene_variant,,ENST00000477177,;NDUFB5,downstream_gene_variant,,ENST00000488002,;	527	103	112	SUCCESS
ATP11B	23200	.	GRCh37	3	182631716	182631716	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs777176110	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	48	127	1	ENST00000323116.5:c.3386C>T	p.Ala1129Val	p.A1129V	ENST00000323116	NM_014616.2	1129	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS33896.1	3386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGTGTG	NONE	byFrequency	.	hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57	.	.	ENSP00000321195	.	29/30	.	.	.	.	.	.	.	.	rs777176110	29/30	PASS	ENST00000323116	Transcript	.	.	ENSG00000058063	13553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.17)	.	AT11B_HUMAN	ATP11B	HGNC	B4E3T1_HUMAN	.	UPI000004124E	SNV	ATP11B,missense_variant,p.Arg108Cys,ENST00000484691,;ATP11B,missense_variant,p.Ala114Val,ENST00000491699,;ATP11B,missense_variant,p.Ala1129Val,ENST00000323116,;ATP11B,missense_variant,p.Arg959Cys,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000475636,;ATP11B,3_prime_UTR_variant,,ENST00000466758,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;	3646	128	131	SUCCESS
CHRD	8646	.	GRCh37	3	184105204	184105204	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs763703209	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	68	0	ENST00000204604.1:c.2390C>T	p.Thr797Met	p.T797M	ENST00000204604	NM_003741.2	797	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS3266.1	2390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTACGCGGT	NONE	byFrequency	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,Pfam_domain:PF00093,PIRSF_domain:PIRSF002496,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000204604	.	19/23	.	.	.	.	.	.	.	.	rs763703209,COSM1042081	19/23	PASS	ENST00000204604	Transcript	.	.	ENSG00000090539	1949	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.976)	.	deleterious(0)	0,1	CHRD_HUMAN	CHRD	HGNC	Q8N2W7_HUMAN	.	UPI000013C64D	SNV	CHRD,missense_variant,p.Thr797Met,ENST00000204604,;CHRD,missense_variant,p.Thr797Met,ENST00000450923,;CHRD,missense_variant,p.Thr757Met,ENST00000348986,;CHRD,missense_variant,p.Thr339Met,ENST00000545352,;EIF2B5,intron_variant,,ENST00000444495,;CHRD,3_prime_UTR_variant,,ENST00000448472,;CHRD,3_prime_UTR_variant,,ENST00000420973,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,intron_variant,,ENST00000470150,;CHRD,downstream_gene_variant,,ENST00000461120,;CHRD,downstream_gene_variant,,ENST00000464833,;CHRD,downstream_gene_variant,,ENST00000356534,;	2636	68	58	SUCCESS
ETV5	2119	.	GRCh37	3	185797806	185797806	+	synonymous_variant	Silent	SNP	A	A	G	rs772085062	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	55	0	ENST00000306376.5:c.450T>C	p.Phe150=	p.F150=	ENST00000306376	NM_004454.2	150	ttT/ttC	0	.	.	.	.	.	G	F	protein_coding	YES	CCDS33906.1	450	RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGAAATAG	NONE	.	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF166,Pfam_domain:PF04621	.	.	ENSP00000306894	.	7/13	.	.	.	.	.	.	.	.	rs772085062	7/13	PASS	ENST00000306376	Transcript	.	.	ENSG00000244405	3494	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ETV5_HUMAN	ETV5	HGNC	C9JMF0_HUMAN,C9J5A5_HUMAN,C9J0Z2_HUMAN	.	UPI000012A175	SNV	ETV5,synonymous_variant,p.%3D,ENST00000440773,;ETV5,synonymous_variant,p.%3D,ENST00000434744,;ETV5,synonymous_variant,p.%3D,ENST00000537818,;ETV5,synonymous_variant,p.%3D,ENST00000306376,;ETV5,downstream_gene_variant,,ENST00000413301,;ETV5,downstream_gene_variant,,ENST00000421809,;ETV5,downstream_gene_variant,,ENST00000422039,;ETV5-AS1,intron_variant,,ENST00000453370,;ETV5,intron_variant,,ENST00000472868,;ETV5,upstream_gene_variant,,ENST00000484223,;ETV5,upstream_gene_variant,,ENST00000489830,;	697	55	68	SUCCESS
GMNC	647309	.	GRCh37	3	190575656	190575656	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	16	112	0	ENST00000442080.1:c.300A>G	p.Glu100=	p.E100=	ENST00000442080	NM_001146686.2	100	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS54697.1	300	RADIA|MUTECT|MUSE|VARSCANS	.	GCGAGTTCTTC	NONE	.	.	hmmpanther:PTHR13372,hmmpanther:PTHR13372:SF2,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000406164	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000442080	Transcript	.	.	ENSG00000205835	40049	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GEMC1_HUMAN	GMNC	HGNC	.	.	UPI00017BE92F	SNV	GMNC,synonymous_variant,p.%3D,ENST00000442080,;GMNC,non_coding_transcript_exon_variant,,ENST00000479491,;GMNC,3_prime_UTR_variant,,ENST00000456552,;GMNC,non_coding_transcript_exon_variant,,ENST00000495042,;	300	112	119	SUCCESS
SDHAP2	727956	.	GRCh37	3	195391091	195391091	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs777290361	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	51	0	ENST00000455183.1:n.598C>T		p.*200*	ENST00000455183				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGGCCACTC	NONE	.	.	.	.	.	.	.	5/15	.	.	.	.	.	.	.	.	rs777290361	5/15	PASS	ENST00000455183	Transcript	.	.	ENSG00000215837	27408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SDHAP2	HGNC	.	.	.	SNV	LINC00969,non_coding_transcript_exon_variant,,ENST00000425425,;LINC00969,non_coding_transcript_exon_variant,,ENST00000539717,;LINC00969,non_coding_transcript_exon_variant,,ENST00000453324,;LINC00969,non_coding_transcript_exon_variant,,ENST00000445430,;LINC00969,non_coding_transcript_exon_variant,,ENST00000429897,;LINC00969,non_coding_transcript_exon_variant,,ENST00000457233,;LINC00969,non_coding_transcript_exon_variant,,ENST00000539252,;LINC00969,non_coding_transcript_exon_variant,,ENST00000414625,;LINC00969,downstream_gene_variant,,ENST00000452844,;SDHAP2,non_coding_transcript_exon_variant,,ENST00000455183,;	598	51	50	SUCCESS
MUC4	4585	.	GRCh37	3	195512663	195512663	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs77235952	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	22	229	0	ENST00000463781.3:c.5788T>C	p.Ser1930Pro	p.S1930P	ENST00000463781	NM_018406.6	1930	Tcc/Ccc	0	.	G:0.0582	.	G:0.0014	.	G	S/P	protein_coding	YES	CCDS54700.1	5788	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGATGCTG	BUFFER|p.A1929V|c.5786C>T|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	G:0	.	ENSP00000417498	G:0.003	2/25	.	.	.	.	.	.	.	.	rs77235952	2/25	common_in_exac	ENST00000463781	Transcript	.	G:0.0162	ENSG00000145113	7514	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	G:0	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,missense_variant,p.Ser1930Pro,ENST00000475231,;MUC4,missense_variant,p.Ser1930Pro,ENST00000463781,;MUC4,intron_variant,,ENST00000346145,;MUC4,intron_variant,,ENST00000349607,;MUC4,missense_variant,p.Ser1930Pro,ENST00000477086,;MUC4,missense_variant,p.Ser1930Pro,ENST00000466475,;MUC4,missense_variant,p.Ser1930Pro,ENST00000478156,;MUC4,missense_variant,p.Ser1930Pro,ENST00000470451,;MUC4,missense_variant,p.Ser1930Pro,ENST00000479406,;MUC4,missense_variant,p.Ser1930Pro,ENST00000477756,;MUC4,missense_variant,p.Ser1930Pro,ENST00000462323,;MUC4,missense_variant,p.Ser1930Pro,ENST00000480843,;	6248	229	169	SUCCESS
TFRC	7037	.	GRCh37	3	195802216	195802216	+	synonymous_variant	Silent	SNP	A	A	G	rs1398987655	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	7	113	0	ENST00000360110.4:c.52T>C	p.Leu18=	p.L18=	ENST00000360110	NM_001128148.1	18	Ttg/Ctg	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS3312.1	52	MUTECT|MUSE|VARSCANS	.	TGACAATGGTT	NONE	.	.	hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26	.	.	ENSP00000353224	.	3/19	.	.	.	.	.	.	.	.	.	3/19	PASS	ENST00000360110	Transcript	.	.	ENSG00000072274	11763	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TFR1_HUMAN	TFRC	HGNC	G3V0E5_HUMAN,F5H6B1_HUMAN	.	UPI0000049ADE	SNV	TFRC,synonymous_variant,p.%3D,ENST00000360110,;TFRC,synonymous_variant,p.%3D,ENST00000392396,;TFRC,intron_variant,,ENST00000540528,;TFRC,intron_variant,,ENST00000420415,;TFRC,intron_variant,,ENST00000535031,;RNU7-18P,downstream_gene_variant,,ENST00000516365,;TFRC,non_coding_transcript_exon_variant,,ENST00000464011,;TFRC,synonymous_variant,p.%3D,ENST00000421258,;	222	113	77	SUCCESS
CCR2	729230	.	GRCh37	3	46400760	46400760	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	47	0	ENST00000292301.4:c.942-408C>A		p.*314*	ENST00000292301	NM_001123041.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43078.1	.	MUTECT|MUSE|VARSCANS	.	GGCACCCATGC	NONE	.	.	.	.	.	ENSP00000292301	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292301	Transcript	.	.	ENSG00000121807	1603	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCR2_HUMAN	CCR2	HGNC	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN	.	UPI0000043585	SNV	CCR2,3_prime_UTR_variant,,ENST00000445132,;CCR2,intron_variant,,ENST00000400888,;CCR2,intron_variant,,ENST00000292301,;CCR2,downstream_gene_variant,,ENST00000421659,;CCR2,downstream_gene_variant,,ENST00000465202,;	.	47	62	SUCCESS
IP6K2	51447	.	GRCh37	3	48732056	48732056	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	31	47	0	ENST00000328631.5:c.202+467C>T		p.*68*	ENST00000328631	NM_016291.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGGGCTT	NONE	.	.	.	.	.	ENSP00000331103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328631	Transcript	.	.	ENSG00000068745	17313	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K2_HUMAN	IP6K2	HGNC	C9JU99_HUMAN,C9JMC9_HUMAN,C9JLG7_HUMAN,C9JK62_HUMAN,C9JHX0_HUMAN,C9JGK2_HUMAN,B2RCP4_HUMAN	.	UPI00000732B2	SNV	IP6K2,3_prime_UTR_variant,,ENST00000431721,;IP6K2,3_prime_UTR_variant,,ENST00000449610,;IP6K2,3_prime_UTR_variant,,ENST00000417896,;IP6K2,3_prime_UTR_variant,,ENST00000446860,;IP6K2,intron_variant,,ENST00000413298,;IP6K2,intron_variant,,ENST00000449563,;IP6K2,intron_variant,,ENST00000412850,;IP6K2,intron_variant,,ENST00000413654,;IP6K2,intron_variant,,ENST00000437427,;IP6K2,intron_variant,,ENST00000454335,;IP6K2,intron_variant,,ENST00000455545,;IP6K2,intron_variant,,ENST00000340879,;IP6K2,intron_variant,,ENST00000443853,;IP6K2,intron_variant,,ENST00000450045,;IP6K2,intron_variant,,ENST00000328631,;IP6K2,intron_variant,,ENST00000432678,;IP6K2,downstream_gene_variant,,ENST00000453202,;IP6K2,downstream_gene_variant,,ENST00000434860,;IP6K2,downstream_gene_variant,,ENST00000424035,;IP6K2,downstream_gene_variant,,ENST00000440424,;IP6K2,downstream_gene_variant,,ENST00000443964,;IP6K2,downstream_gene_variant,,ENST00000436134,;IP6K2,downstream_gene_variant,,ENST00000476645,;IP6K2,intron_variant,,ENST00000479914,;IP6K2,intron_variant,,ENST00000412795,;IP6K2,intron_variant,,ENST00000416707,;IP6K2,intron_variant,,ENST00000433104,;IP6K2,upstream_gene_variant,,ENST00000491686,;	.	47	52	SUCCESS
CDHR4	389118	.	GRCh37	3	49833197	49833197	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs762644334	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	53	106	0	ENST00000412678.2:c.711C>T		p.X237_splice	ENST00000412678	NM_001007540.2	237	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS46829.1	711	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCGCTGGA	NONE	byFrequency	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF99,hmmpanther:PTHR24028,Superfamily_domains:SSF49313	.	.	ENSP00000391409	.	7/19	.	.	.	.	.	.	.	.	rs762644334	7/19	PASS	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,synonymous_variant,p.%3D,ENST00000412678,;CDHR4,downstream_gene_variant,,ENST00000487256,;CDHR4,downstream_gene_variant,,ENST00000343366,;CDHR4,upstream_gene_variant,,ENST00000487666,;CDHR4,upstream_gene_variant,,ENST00000462108,;CDHR4,upstream_gene_variant,,ENST00000460430,;	720	106	106	SUCCESS
IFRD2	7866	.	GRCh37	3	50326695	50326695	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	92	202	1	ENST00000417626.2:c.876G>T	p.Arg292=	p.R292=	ENST00000417626	NM_006764.4	292	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS46831.1	1068	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCCGGGC	NONE	.	.	hmmpanther:PTHR12354:SF8,hmmpanther:PTHR12354,Pfam_domain:PF05004,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000398971	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000429673	Transcript	.	.	ENSG00000214706	5457	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFRD2_HUMAN	IFRD2	HGNC	.	.	UPI0000E5A694	SNV	IFRD2,synonymous_variant,p.%3D,ENST00000429673,;IFRD2,synonymous_variant,p.%3D,ENST00000336089,;IFRD2,synonymous_variant,p.%3D,ENST00000417626,;IFRD2,synonymous_variant,p.%3D,ENST00000436390,;HYAL3,downstream_gene_variant,,ENST00000450982,;IFRD2,upstream_gene_variant,,ENST00000426499,;HYAL3,downstream_gene_variant,,ENST00000336307,;LSMEM2,downstream_gene_variant,,ENST00000316436,;HYAL3,downstream_gene_variant,,ENST00000359051,;HYAL3,downstream_gene_variant,,ENST00000415204,;HYAL3,downstream_gene_variant,,ENST00000513170,;IFRD2,downstream_gene_variant,,ENST00000484043,;IFRD2,downstream_gene_variant,,ENST00000468737,;IFRD2,3_prime_UTR_variant,,ENST00000414734,;IFRD2,3_prime_UTR_variant,,ENST00000438296,;IFRD2,non_coding_transcript_exon_variant,,ENST00000474556,;IFRD2,non_coding_transcript_exon_variant,,ENST00000483071,;IFRD2,non_coding_transcript_exon_variant,,ENST00000489569,;IFRD2,non_coding_transcript_exon_variant,,ENST00000464258,;IFRD2,upstream_gene_variant,,ENST00000469855,;IFRD2,downstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000486322,;IFRD2,upstream_gene_variant,,ENST00000492387,;	1068	203	169	SUCCESS
DNAH1	25981	.	GRCh37	3	52384527	52384527	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs182989782	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	114	1	ENST00000420323.2:c.2650C>T	p.Arg884Trp	p.R884W	ENST00000420323	NM_015512.4	884	Cgg/Tgg	0	.	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS46842.1	2650	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCGGATT	NONE	by1000G	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	T:0.001	.	ENSP00000401514	T:0	16/78	.	.	.	.	.	.	.	.	rs182989782	16/78	PASS	ENST00000420323	Transcript	.	T:0.0002	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.676)	T:0	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Arg884Trp,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	2911	115	84	SUCCESS
BAP1	8314	.	GRCh37	3	52437802	52437803	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	rs1351986946	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	47	0	ENST00000460680.1:c.1358_1359del	p.Lys453ArgfsTer15	p.K453Rfs*15	ENST00000460680	NM_004656.3	453	aAA/a	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS2853.1	1358-1359	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACTCTTTGAGC	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	13/17	.	.	.	.	.	.	.	.	COSM249184	13/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	deletion	BAP1,frameshift_variant,p.Lys435ArgfsTer15,ENST00000296288,;BAP1,frameshift_variant,p.Lys453ArgfsTer15,ENST00000460680,;BAP1,intron_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	1830-1831	47	63	SUCCESS
ARL6	84100	.	GRCh37	3	97487017	97487017	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	41	127	0	ENST00000335979.2:c.66C>T	p.Cys22=	p.C22=	ENST00000335979	NM_032146.4	22	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS2928.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGCCTTGG	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF21,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00178,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00328	.	.	ENSP00000419619	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000463745	Transcript	.	.	ENSG00000113966	13210	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL6_HUMAN	ARL6	HGNC	C9IZ13_HUMAN	.	UPI0000037CC9	SNV	ARL6,synonymous_variant,p.%3D,ENST00000462412,;ARL6,synonymous_variant,p.%3D,ENST00000463745,;ARL6,synonymous_variant,p.%3D,ENST00000335979,;ARL6,synonymous_variant,p.%3D,ENST00000394206,;ARL6,non_coding_transcript_exon_variant,,ENST00000496713,;ARL6,synonymous_variant,p.%3D,ENST00000493990,;	543	127	105	SUCCESS
GABRR3	200959	.	GRCh37	3	97726614	97726614	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	78	0	ENST00000472788.1:c.748A>G	p.Ser250Gly	p.S250G	ENST00000472788	NM_001105580.2	250	Agc/Ggc	0	.	.	.	.	.	C	.	retained_intron	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCTGCTAT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000470589	Transcript	.	.	ENSG00000183185	17969	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GABRR3	HGNC	.	.	.	SNV	GABRR3,intron_variant,,ENST00000470589,;GABRR3,missense_variant,p.Ser250Gly,ENST00000472788,;	.	78	55	SUCCESS
OR5H14	403273	.	GRCh37	3	97869067	97869067	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780982523	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	15	123	0	ENST00000437310.1:c.838G>T	p.Val280Phe	p.V280F	ENST00000437310	NM_001005514.1	280	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS33798.1	838	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTGTCATA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	rs780982523	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.9)	.	deleterious(0)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Val280Phe,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	898	123	139	SUCCESS
COL25A1	84570	.	GRCh37	4	109858999	109858999	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	84	0	ENST00000399132.1:c.673G>T	p.Gly225Cys	p.G225C	ENST00000399132	NM_198721.2	225	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS43258.1	673	MUTECT|MUSE	.	TTCACCCTTAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF412,hmmpanther:PTHR24023	.	.	ENSP00000382083	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000399132	Transcript	1	.	ENSG00000188517	18603	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0)	.	COPA1_HUMAN	COL25A1	HGNC	D6R8Y2_HUMAN	.	UPI0000225CD2	SNV	COL25A1,missense_variant,p.Gly221Cys,ENST00000399127,;COL25A1,missense_variant,p.Gly225Cys,ENST00000399132,;COL25A1,missense_variant,p.Gly225Cys,ENST00000399126,;COL25A1,intron_variant,,ENST00000494183,;	1204	84	64	SUCCESS
PRSS12	8492	.	GRCh37	4	119234422	119234422	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1298448272	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	61	0	ENST00000296498.3:c.1423T>C	p.Cys475Arg	p.C475R	ENST00000296498	NM_003619.3	475	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS3709.1	1423	MUTECT|MUSE|VARSCANS	.	GCTGCAGTCAT	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF19,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000296498	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000296498	Transcript	1	.	ENSG00000164099	9477	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NETR_HUMAN	PRSS12	HGNC	.	.	UPI000013E34B	SNV	PRSS12,missense_variant,p.Cys475Arg,ENST00000296498,;PRSS12,non_coding_transcript_exon_variant,,ENST00000503043,;PRSS12,non_coding_transcript_exon_variant,,ENST00000515089,;	1706	61	50	SUCCESS
ADAD1	132612	.	GRCh37	4	123302243	123302243	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	7	269	0	ENST00000296513.2:c.269A>G	p.Tyr90Cys	p.Y90C	ENST00000296513	NM_139243.3	90	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34058.1	269	MUTECT|MUSE	.	GAAATACAAAC	NONE	.	.	hmmpanther:PTHR10910:SF44,hmmpanther:PTHR10910	.	.	ENSP00000296513	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000296513	Transcript	.	.	ENSG00000164113	30713	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	ADAD1_HUMAN	ADAD1	HGNC	C9JGM6_HUMAN,C9JAT9_HUMAN	.	UPI000006DF76	SNV	ADAD1,missense_variant,p.Tyr90Cys,ENST00000388724,;ADAD1,missense_variant,p.Tyr90Cys,ENST00000296513,;ADAD1,missense_variant,p.Tyr90Cys,ENST00000439307,;ADAD1,missense_variant,p.Tyr90Cys,ENST00000446706,;ADAD1,missense_variant,p.Tyr72Cys,ENST00000388725,;ADAD1,non_coding_transcript_exon_variant,,ENST00000492454,;ADAD1,downstream_gene_variant,,ENST00000464160,;	454	269	234	SUCCESS
SPRY1	10252	.	GRCh37	4	124323492	124323492	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	13	66	0	ENST00000339241.1:c.746C>T	p.Ser249Leu	p.S249L	ENST00000339241	NM_199327.2	249	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS3731.1	746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCACAAT	NONE	.	.	PROSITE_profiles:PS51227,hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF10,Pfam_domain:PF05210	.	.	ENSP00000377871	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394339	Transcript	.	.	ENSG00000164056	11269	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.666)	.	deleterious(0)	.	SPY1_HUMAN	SPRY1	HGNC	D6RIE6_HUMAN,D6RHD2_HUMAN,D6REX7_HUMAN	.	UPI0000035D8F	SNV	SPRY1,missense_variant,p.Ser249Leu,ENST00000339241,;SPRY1,missense_variant,p.Ser249Leu,ENST00000394339,;SPRY1,downstream_gene_variant,,ENST00000508849,;SPRY1,downstream_gene_variant,,ENST00000505319,;SPRY1,downstream_gene_variant,,ENST00000507703,;SPRY1,downstream_gene_variant,,ENST00000515726,;	1086	66	51	SUCCESS
ABCE1	6059	.	GRCh37	4	146030397	146030397	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	22	46	0	ENST00000296577.4:c.401A>G	p.Tyr134Cys	p.Y134C	ENST00000296577	NM_002940.2	134	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34071.1	401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTACGATG	NONE	.	.	Superfamily_domains:SSF54862,Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19248,PROSITE_profiles:PS50893	.	.	ENSP00000296577	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000296577	Transcript	.	.	ENSG00000164163	69	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	deleterious(0)	.	ABCE1_HUMAN	ABCE1	HGNC	D6RGF4_HUMAN,D6R9I9_HUMAN	.	UPI0000001226	SNV	ABCE1,missense_variant,p.Tyr134Cys,ENST00000296577,;ABCE1,missense_variant,p.Tyr134Cys,ENST00000502586,;ABCE1,intron_variant,,ENST00000506506,;ABCE1,intron_variant,,ENST00000502803,;OTUD4,downstream_gene_variant,,ENST00000455611,;ABCE1,missense_variant,p.Tyr67Cys,ENST00000504292,;ABCE1,missense_variant,p.Tyr134Cys,ENST00000507193,;	916	46	41	SUCCESS
FAM160A1	0	.	GRCh37	4	152498659	152498659	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	26	182	0	ENST00000435205.1:c.163T>C	p.Ser55Pro	p.S55P	ENST00000435205	NM_001109977.1	55	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47146.1	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGTCTATC	NONE	.	.	hmmpanther:PTHR21705:SF6,hmmpanther:PTHR21705	.	.	ENSP00000413196	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000435205	Transcript	.	.	ENSG00000164142	34237	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.447)	.	tolerated(0.51)	.	F16A1_HUMAN	FAM160A1	HGNC	D6RF38_HUMAN,D6RBF5_HUMAN,D6RAG2_HUMAN	.	UPI00015DE720	SNV	FAM160A1,missense_variant,p.Ser55Pro,ENST00000435205,;FAM160A1,missense_variant,p.Ser55Pro,ENST00000505231,;FAM160A1,missense_variant,p.Ser55Pro,ENST00000512597,;FAM160A1,downstream_gene_variant,,ENST00000503146,;FAM160A1,downstream_gene_variant,,ENST00000513962,;RN7SKP35,downstream_gene_variant,,ENST00000517210,;	738	182	147	SUCCESS
NPY5R	4889	.	GRCh37	4	164271886	164271886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	57	0	ENST00000338566.3:c.461A>G	p.Asn154Ser	p.N154S	ENST00000338566	NM_006174.2	154	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS3804.1	461	MUTECT|MUSE	.	AGCAAACCATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF167,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01016	.	.	ENSP00000423917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000515560	Transcript	.	.	ENSG00000164129	7958	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.438)	.	tolerated(0.62)	.	NPY5R_HUMAN	NPY5R	HGNC	.	.	UPI000000D9D7	SNV	NPY5R,missense_variant,p.Asn154Ser,ENST00000506953,;NPY5R,missense_variant,p.Asn154Ser,ENST00000515560,;NPY5R,missense_variant,p.Asn154Ser,ENST00000338566,;	1983	57	37	SUCCESS
TACC3	10460	.	GRCh37	4	1730308	1730308	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs757553939	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	48	109	0	ENST00000313288.4:c.1185del	p.Met396CysfsTer65	p.M396Cfs*65	ENST00000313288	NM_006342.2	393	gaC/ga	0	T:0.0002	.	.	.	.	-	D/X	protein_coding	YES	CCDS3352.1	1179	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAGGACCCCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13924	.	T:0	ENSP00000326550	.	4/16	.	.	.	.	.	.	.	.	rs201356524,rs778789226,COSM1428489	4/16	PASS	ENST00000313288	Transcript	1	.	ENSG00000013810	11524	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,0,1	.	.	.	.	.	0,0,1	TACC3_HUMAN	TACC3	HGNC	E7EMT0_HUMAN,C9JA91_HUMAN	.	UPI0000136869	deletion	TACC3,frameshift_variant,p.Met63CysfsTer65,ENST00000470136,;TACC3,frameshift_variant,p.Met396CysfsTer65,ENST00000313288,;TACC3,intron_variant,,ENST00000485989,;TACC3,downstream_gene_variant,,ENST00000493975,;TACC3,downstream_gene_variant,,ENST00000458173,;TACC3,non_coding_transcript_exon_variant,,ENST00000484651,;TACC3,upstream_gene_variant,,ENST00000466077,;TACC3,downstream_gene_variant,,ENST00000467746,;	1285	109	214	SUCCESS
LCORL	254251	.	GRCh37	4	17910804	17910804	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	44	148	0	ENST00000382226.5:c.595A>G	p.Asn199Asp	p.N199D	ENST00000382226	NM_001166139.1	199	Aat/Gat	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS54749.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATTCATTT	NONE	.	.	hmmpanther:PTHR21545:SF10,hmmpanther:PTHR21545	.	.	ENSP00000371661	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000382226	Transcript	.	.	ENSG00000178177	30776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.11)	.	LCORL_HUMAN	LCORL	HGNC	C9JI46_HUMAN	.	UPI00015E0F98	SNV	LCORL,missense_variant,p.Asn112Asp,ENST00000539056,;LCORL,missense_variant,p.Asn115Asp,ENST00000382224,;LCORL,missense_variant,p.Asn199Asp,ENST00000382226,;LCORL,missense_variant,p.Asn199Asp,ENST00000326877,;LCORL,intron_variant,,ENST00000510121,;LCORL,3_prime_UTR_variant,,ENST00000510451,;KRT18P63,upstream_gene_variant,,ENST00000505463,;	704	148	167	SUCCESS
TENM3	55714	.	GRCh37	4	183609359	183609359	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs749784092	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	54	0	ENST00000511685.1:c.2082del	p.Thr695ArgfsTer81	p.T695Rfs*81	ENST00000511685		692	atG/at	0	.	.	.	.	.	-	M/X	protein_coding	YES	CCDS47165.1	2076	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGCATGGGGGG	NONE	byFrequency	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Gene3D:2.10.25.10,SMART_domains:SM00181	.	.	ENSP00000424226	.	12/28	.	.	.	.	.	.	.	.	rs749784092,COSM1428769	12/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	6	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	deletion	TENM3,frameshift_variant,p.Thr695ArgfsTer81,ENST00000511685,;TENM3,frameshift_variant,p.Thr695ArgfsTer81,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	2199	54	61	SUCCESS
DHX15	1665	.	GRCh37	4	24578249	24578249	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	27	88	0	ENST00000336812.4:c.124C>T	p.Arg42Ter	p.R42*	ENST00000336812	NM_001358.2	42	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS33966.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCGGTCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18934:SF95,hmmpanther:PTHR18934	.	.	ENSP00000336741	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000336812	Transcript	.	.	ENSG00000109606	2738	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHX15_HUMAN	DHX15	HGNC	.	.	UPI000012907A	SNV	DHX15,stop_gained,p.Arg42Ter,ENST00000336812,;DHX15,non_coding_transcript_exon_variant,,ENST00000513092,;DHX15,non_coding_transcript_exon_variant,,ENST00000511553,;	281	88	97	SUCCESS
ADD1	118	.	GRCh37	4	2910332	2910332	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	92	0	ENST00000398129.1:c.1605+1G>A		p.X535_splice	ENST00000398129		535		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3363.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGGTGAGA	NONE	.	.	.	.	.	ENSP00000264758	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000264758	Transcript	.	.	ENSG00000087274	243	.	.	HIGH	12/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADDA_HUMAN	ADD1	HGNC	D6RAH3_HUMAN	.	UPI000002A35E	SNV	ADD1,splice_donor_variant,,ENST00000355842,;ADD1,splice_donor_variant,,ENST00000398125,;ADD1,splice_donor_variant,,ENST00000536424,;ADD1,splice_donor_variant,,ENST00000398123,;ADD1,splice_donor_variant,,ENST00000514940,;ADD1,splice_donor_variant,,ENST00000513328,;ADD1,splice_donor_variant,,ENST00000398129,;ADD1,splice_donor_variant,,ENST00000264758,;ADD1,splice_donor_variant,,ENST00000446856,;ADD1,splice_donor_variant,,ENST00000503455,;ADD1,splice_donor_variant,,ENST00000541051,;ADD1,non_coding_transcript_exon_variant,,ENST00000513762,;ADD1,downstream_gene_variant,,ENST00000536078,;ADD1,downstream_gene_variant,,ENST00000503169,;	.	92	93	SUCCESS
HTT	3064	.	GRCh37	4	3162106	3162106	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	24	98	0	ENST00000355072.5:c.3851A>G	p.Gln1284Arg	p.Q1284R	ENST00000355072	NM_002111.6	1284	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS43206.1	3851	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCAGGACA	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	29/67	.	.	.	.	.	.	.	.	.	29/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Gln7Arg,ENST00000509618,;HTT,missense_variant,p.Gln1284Arg,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	3996	98	102	SUCCESS
HGFAC	3083	.	GRCh37	4	3444865	3444865	+	synonymous_variant	Silent	SNP	C	C	T	rs1560191414	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	76	0	ENST00000382774.3:c.387C>T	p.His129=	p.H129=	ENST00000382774	NM_001528.2	129	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS3369.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACACAGGAA	NONE	.	.	PROSITE_profiles:PS51092,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF11,PROSITE_patterns:PS00023,Pfam_domain:PF00040,Gene3D:2.10.10.10,SMART_domains:SM00059,PIRSF_domain:PIRSF001146,Superfamily_domains:SSF57440	.	.	ENSP00000372224	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000382774	Transcript	.	.	ENSG00000109758	4894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HGFA_HUMAN	HGFAC	HGNC	.	.	UPI0000000826	SNV	HGFAC,synonymous_variant,p.%3D,ENST00000511533,;HGFAC,synonymous_variant,p.%3D,ENST00000382774,;RGS12,downstream_gene_variant,,ENST00000344733,;RGS12,downstream_gene_variant,,ENST00000338806,;RGS12,downstream_gene_variant,,ENST00000509772,;RGS12,downstream_gene_variant,,ENST00000504194,;HGFAC,upstream_gene_variant,,ENST00000509689,;HGFAC,upstream_gene_variant,,ENST00000506132,;	502	76	106	SUCCESS
TLR6	10333	.	GRCh37	4	38829083	38829083	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	16	103	0	ENST00000381950.1:c.2012T>C	p.Ile671Thr	p.I671T	ENST00000381950		671	aTt/aCt	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS3446.1	2012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAATCTGT	NONE	.	.	PROSITE_profiles:PS50104,hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,Pfam_domain:PF01582,Gene3D:3.40.50.10140,PIRSF_domain:PIRSF037595,SMART_domains:SM00255,Superfamily_domains:SSF52200	.	.	ENSP00000389600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000436693	Transcript	.	.	ENSG00000174130	16711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.02)	.	TLR6_HUMAN	TLR6	HGNC	D6RAV7_HUMAN,D6R979_HUMAN	.	UPI000013EE02	SNV	TLR6,missense_variant,p.Ile671Thr,ENST00000381950,;TLR6,missense_variant,p.Ile671Thr,ENST00000436693,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	2132	103	112	SUCCESS
KLB	152831	.	GRCh37	4	39448060	39448060	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs190507569	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	78	0	ENST00000257408.4:c.1714C>T	p.Arg572Ter	p.R572*	ENST00000257408	NM_175737.3	572	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS3451.1	1714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACGACCC	NONE	by1000G	.	hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000257408	.	4/5	.	.	.	.	.	.	.	.	rs190507569	4/5	PASS	ENST00000257408	Transcript	.	.	ENSG00000134962	15527	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLOTB_HUMAN	KLB	HGNC	.	.	UPI000000D726	SNV	KLB,stop_gained,p.Arg572Ter,ENST00000257408,;Y_RNA,downstream_gene_variant,,ENST00000459360,;	1811	78	78	SUCCESS
KIAA1211	0	.	GRCh37	4	57180817	57180817	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	33	96	0	ENST00000504228.1:c.1149C>T	p.Pro383=	p.P383=	ENST00000504228		383	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS43230.1	1149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCGAGGC	NONE	.	.	hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	.	.	ENSP00000423366	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000504228	Transcript	.	.	ENSG00000109265	29219	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1211_HUMAN	KIAA1211	HGNC	.	.	UPI0000237309	SNV	KIAA1211,synonymous_variant,p.%3D,ENST00000504228,;KIAA1211,synonymous_variant,p.%3D,ENST00000264229,;KIAA1211,synonymous_variant,p.%3D,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	1254	97	72	SUCCESS
PPAT	5471	.	GRCh37	4	57269502	57269502	+	synonymous_variant	Silent	SNP	C	C	T	rs746387194	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	75	0	ENST00000264220.2:c.468G>A	p.Ala156=	p.A156=	ENST00000264220	NM_002703.4	156	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS3505.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATACGCCAG	NONE	byFrequency	.	PROSITE_profiles:PS51278,hmmpanther:PTHR11907,hmmpanther:PTHR11907:SF3,Pfam_domain:PF00310,TIGRFAM_domain:TIGR01134,Gene3D:3.60.20.10,PIRSF_domain:PIRSF000485,Superfamily_domains:SSF56235	.	.	ENSP00000264220	.	4/11	.	.	.	.	.	.	.	.	rs746387194	4/11	PASS	ENST00000264220	Transcript	.	.	ENSG00000128059	9238	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUR1_HUMAN	PPAT	HGNC	A8K4H7_HUMAN	.	UPI0000000C5A	SNV	PPAT,synonymous_variant,p.%3D,ENST00000264220,;PPAT,non_coding_transcript_exon_variant,,ENST00000507648,;PPAT,3_prime_UTR_variant,,ENST00000510643,;PPAT,3_prime_UTR_variant,,ENST00000507724,;PPAT,upstream_gene_variant,,ENST00000425339,;	606	75	55	SUCCESS
KIAA0232	9778	.	GRCh37	4	6865898	6865898	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	12	118	0	ENST00000307659.5:c.3789A>G	p.Gly1263=	p.G1263=	ENST00000307659	NM_014743.2	1263	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS43209.1	3789	RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGACAGCT	NONE	.	.	hmmpanther:PTHR17611,Pfam_domain:PF15376	.	.	ENSP00000303928	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000307659	Transcript	.	.	ENSG00000170871	28992	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K0232_HUMAN	KIAA0232	HGNC	D6REK0_HUMAN	.	UPI000013EC3F	SNV	KIAA0232,synonymous_variant,p.%3D,ENST00000307659,;KIAA0232,synonymous_variant,p.%3D,ENST00000425103,;KIAA0232,downstream_gene_variant,,ENST00000503069,;	4244	118	119	SUCCESS
GRSF1	2926	.	GRCh37	4	71702012	71702012	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	37	247	0	ENST00000254799.6:c.377T>C	p.Leu126Pro	p.L126P	ENST00000254799	NM_002092.3	126	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS47069.1	377	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCAGGTAA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF26	.	.	ENSP00000254799	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000254799	Transcript	.	.	ENSG00000132463	4610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.758)	.	tolerated(0.06)	.	GRSF1_HUMAN	GRSF1	HGNC	.	.	UPI0001838834	SNV	GRSF1,missense_variant,p.Leu99Pro,ENST00000499044,;GRSF1,missense_variant,p.Leu8Pro,ENST00000545193,;GRSF1,missense_variant,p.Leu63Pro,ENST00000514161,;GRSF1,missense_variant,p.Leu126Pro,ENST00000254799,;GRSF1,5_prime_UTR_variant,,ENST00000439371,;GRSF1,5_prime_UTR_variant,,ENST00000502323,;GRSF1,non_coding_transcript_exon_variant,,ENST00000508091,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;GRSF1,upstream_gene_variant,,ENST00000506453,;	495	247	183	SUCCESS
DGKQ	1609	.	GRCh37	4	959783	959783	+	synonymous_variant	Silent	SNP	G	G	A	rs747177946	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	51	164	0	ENST00000273814.3:c.1512C>T	p.Gly504=	p.G504=	ENST00000273814	NM_001347.3	504	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3342.1	1512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCCAAC	NONE	.	.	hmmpanther:PTHR11255:SF8,hmmpanther:PTHR11255	.	.	ENSP00000273814	.	13/23	.	.	.	.	.	.	.	.	rs747177946	13/23	PASS	ENST00000273814	Transcript	.	.	ENSG00000145214	2856	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKQ_HUMAN	DGKQ	HGNC	.	.	UPI00001AE9B4	SNV	DGKQ,synonymous_variant,p.%3D,ENST00000273814,;DGKQ,synonymous_variant,p.%3D,ENST00000509465,;DGKQ,downstream_gene_variant,,ENST00000510286,;DGKQ,upstream_gene_variant,,ENST00000515182,;DGKQ,intron_variant,,ENST00000502309,;	1586	165	177	SUCCESS
SLC26A1	10861	.	GRCh37	4	985227	985227	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1010411911	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	19	156	0	ENST00000361661.2:c.265G>A	p.Ala89Thr	p.A89T	ENST00000361661	NM_213613.3	89	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS33934.1	265	RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGCGATGG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF31,TIGRFAM_domain:TIGR00815,Pfam_domain:PF13792	.	.	ENSP00000354721	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000361661	Transcript	.	.	ENSG00000145217	10993	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	S26A1_HUMAN	SLC26A1	HGNC	.	.	UPI000013D9D4	SNV	SLC26A1,missense_variant,p.Ala89Thr,ENST00000398520,;SLC26A1,missense_variant,p.Ala89Thr,ENST00000361661,;SLC26A1,missense_variant,p.Ala89Thr,ENST00000398516,;IDUA,intron_variant,,ENST00000504568,;IDUA,intron_variant,,ENST00000453894,;IDUA,intron_variant,,ENST00000247933,;IDUA,intron_variant,,ENST00000502910,;DGKQ,upstream_gene_variant,,ENST00000510286,;IDUA,upstream_gene_variant,,ENST00000509948,;IDUA,upstream_gene_variant,,ENST00000514192,;IDUA,downstream_gene_variant,,ENST00000509744,;SLC26A1,upstream_gene_variant,,ENST00000513138,;IDUA,intron_variant,,ENST00000514698,;IDUA,intron_variant,,ENST00000508168,;IDUA,intron_variant,,ENST00000506561,;	643	156	184	SUCCESS
IDUA	3425	.	GRCh37	4	996691	996691	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	232	13	259	2	ENST00000247933.4:c.1361T>G	p.Val454Gly	p.V454G	ENST00000247933	NM_000203.3	454	gTc/gGc	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS3343.1	1361	MUTECT|MUSE	.	CAGCGTCGCGG	NONE	.	.	hmmpanther:PTHR12631:SF4,hmmpanther:PTHR12631,Gene3D:2bs9A01,Pfam_domain:PF01229,Superfamily_domains:SSF51011	.	.	ENSP00000247933	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000247933	Transcript	1	.	ENSG00000127415	5391	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.345)	.	tolerated(0.41)	.	IDUA_HUMAN	IDUA	HGNC	J9QQV7_HUMAN,D6REB5_HUMAN	.	UPI00004571D0	SNV	IDUA,missense_variant,p.Val322Gly,ENST00000514224,;IDUA,missense_variant,p.Val476Gly,ENST00000453894,;IDUA,missense_variant,p.Val454Gly,ENST00000247933,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,downstream_gene_variant,,ENST00000509948,;IDUA,downstream_gene_variant,,ENST00000502910,;IDUA,downstream_gene_variant,,ENST00000514192,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,non_coding_transcript_exon_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;IDUA,downstream_gene_variant,,ENST00000506561,;	1449	261	246	SUCCESS
WDR36	134430	.	GRCh37	5	110456746	110456746	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	43	193	0	ENST00000506538.2:c.2223T>C	p.Tyr741=	p.Y741=	ENST00000506538	NM_139281.2	741	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS4102.1	2223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATATGATTC	NONE	.	.	hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Pfam_domain:PF04192	.	.	ENSP00000423067	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,synonymous_variant,p.%3D,ENST00000513710,;WDR36,synonymous_variant,p.%3D,ENST00000506538,;	2796	193	190	SUCCESS
FTMT	94033	.	GRCh37	5	121187928	121187928	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	36	101	1	ENST00000321339.1:c.270G>A	p.Ala90=	p.A90=	ENST00000321339	NM_177478.1	90	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4128.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGCGTCCTA	NONE	.	.	PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF30,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240	.	.	ENSP00000313691	.	1/1	.	.	.	.	.	.	.	.	COSM1060026,COSM589174	1/1	PASS	ENST00000321339	Transcript	.	.	ENSG00000181867	17345	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	FTMT_HUMAN	FTMT	HGNC	.	.	UPI000006F87E	SNV	FTMT,synonymous_variant,p.%3D,ENST00000321339,;	279	102	136	SUCCESS
ADAMTS19	171019	.	GRCh37	5	129039961	129039961	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	15	130	0	ENST00000274487.4:c.3171T>C	p.Arg1057=	p.R1057=	ENST00000274487	NM_133638.3	1057	cgT/cgC	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS4146.1	3171	RADIA|MUTECT|MUSE|VARSCANS	.	ATACGTCATCG	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000274487	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,synonymous_variant,p.%3D,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,non_coding_transcript_exon_variant,,ENST00000509467,;	3316	130	139	SUCCESS
KIF3A	11127	.	GRCh37	5	132052119	132052119	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	68	0	ENST00000378746.4:c.772G>A	p.Ala258Thr	p.A258T	ENST00000378746	NM_007054.5	258	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS34235.1	772	MUTECT|MUSE	.	TTTTGCCTGTC	NONE	.	.	PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF53,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380	.	.	ENSP00000368020	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000378746	Transcript	.	.	ENSG00000131437	6319	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.008)	.	tolerated(0.17)	.	KIF3A_HUMAN	KIF3A	HGNC	.	.	UPI000035B258	SNV	KIF3A,missense_variant,p.Ala258Thr,ENST00000378746,;KIF3A,missense_variant,p.Ala258Thr,ENST00000378735,;KIF3A,missense_variant,p.Ala258Thr,ENST00000403231,;AC004237.1,intron_variant,,ENST00000431165,;	991	68	65	SUCCESS
VDAC1	7416	.	GRCh37	5	133311575	133311575	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	18	132	0	ENST00000265333.3:c.689A>G	p.Asp230Gly	p.D230G	ENST00000265333	NM_003374.2	230	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4168.1	689	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCGTCAGGG	NONE	.	.	hmmpanther:PTHR11743:SF13,hmmpanther:PTHR11743,PROSITE_patterns:PS00558,Pfam_domain:PF01459,Gene3D:2.40.160.10	.	.	ENSP00000265333	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000265333	Transcript	.	.	ENSG00000213585	12669	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.682)	.	tolerated(0.07)	.	VDAC1_HUMAN	VDAC1	HGNC	C9JI87_HUMAN	.	UPI000004C7D8	SNV	VDAC1,missense_variant,p.Asp230Gly,ENST00000265333,;VDAC1,missense_variant,p.Asp230Gly,ENST00000395047,;VDAC1,missense_variant,p.Asp230Gly,ENST00000395044,;VDAC1,downstream_gene_variant,,ENST00000425992,;VDAC1,non_coding_transcript_exon_variant,,ENST00000492324,;VDAC1,non_coding_transcript_exon_variant,,ENST00000489906,;	934	132	141	SUCCESS
WDR55	54853	.	GRCh37	5	140049100	140049100	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367668945	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	261	34	236	0	ENST00000358337.5:c.1013G>A	p.Arg338His	p.R338H	ENST00000358337	NM_017706.4	338	cGc/cAc	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS4235.1	1013	RADIA|VARSCANS	.	TCGGCGCAAAA	NONE	byFrequency|byCluster	.	PIRSF_domain:PIRSF038169,hmmpanther:PTHR22840	.	A:0.0001	ENSP00000351100	.	7/7	.	.	.	.	.	.	.	.	rs367668945,COSM248327	7/7	PASS	ENST00000358337	Transcript	.	.	ENSG00000120314	25971	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	possibly_damaging(0.899)	.	deleterious(0.05)	0,1	WDR55_HUMAN	WDR55	HGNC	G3V1J0_HUMAN	.	UPI000013F1EC	SNV	WDR55,missense_variant,p.Arg338His,ENST00000358337,;HARS,downstream_gene_variant,,ENST00000457527,;DND1,downstream_gene_variant,,ENST00000542735,;HARS,downstream_gene_variant,,ENST00000504366,;HARS,downstream_gene_variant,,ENST00000448240,;HARS,downstream_gene_variant,,ENST00000431330,;HARS,downstream_gene_variant,,ENST00000307633,;HARS,downstream_gene_variant,,ENST00000415192,;HARS,downstream_gene_variant,,ENST00000504156,;HARS,downstream_gene_variant,,ENST00000438307,;WDR55,non_coding_transcript_exon_variant,,ENST00000520764,;WDR55,missense_variant,p.Arg177His,ENST00000504897,;WDR55,3_prime_UTR_variant,,ENST00000506393,;WDR55,non_coding_transcript_exon_variant,,ENST00000511232,;HARS,downstream_gene_variant,,ENST00000509087,;	1250	236	296	SUCCESS
PCDHB15	56121	.	GRCh37	5	140625888	140625888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	33	103	0	ENST00000231173.3:c.742G>A	p.Glu248Lys	p.E248K	ENST00000231173	NM_018935.2	248	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS4257.1	742	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACGAGGTG	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF97,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231173	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231173	Transcript	.	.	ENSG00000113248	8686	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated_low_confidence(0.2)	.	PCDBF_HUMAN	PCDHB15	HGNC	.	.	UPI00001273E8	SNV	PCDHB15,missense_variant,p.Glu248Lys,ENST00000231173,;PCDHB19P,downstream_gene_variant,,ENST00000570871,;	742	103	117	SUCCESS
CSNK1A1	1452	.	GRCh37	5	148929723	148929723	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	62	0	ENST00000377843.2:c.145T>C	p.Ser49Pro	p.S49P	ENST00000377843	NM_001271741.1	49	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS47304.1	145	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGATTCTA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF84,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000421689	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000515768	Transcript	.	.	ENSG00000113712	2451	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	tolerated_low_confidence(0.18)	.	KC1A_HUMAN	CSNK1A1	HGNC	U3KQ83_HUMAN,U3KPX3_HUMAN,B4DER9_HUMAN	.	UPI000053FD0F	SNV	CSNK1A1,missense_variant,p.Ser49Pro,ENST00000377843,;CSNK1A1,missense_variant,p.Ser49Pro,ENST00000515748,;CSNK1A1,missense_variant,p.Ser49Pro,ENST00000515768,;CSNK1A1,missense_variant,p.Ser49Pro,ENST00000261798,;CSNK1A1,5_prime_UTR_variant,,ENST00000504676,;CSNK1A1,5_prime_UTR_variant,,ENST00000515435,;ARHGEF37,upstream_gene_variant,,ENST00000505810,;CSNK1A1,missense_variant,p.Ser49Pro,ENST00000523203,;RPL29P14,upstream_gene_variant,,ENST00000495837,;	145	62	73	SUCCESS
PPARGC1B	133522	.	GRCh37	5	149206386	149206386	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	406	111	377	0	ENST00000309241.5:c.408del	p.Ser137AlafsTer69	p.S137Afs*69	ENST00000309241	NM_133263.3	135	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS4298.1	403	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGCACCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528	.	.	ENSP00000312649	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000309241	Transcript	.	.	ENSG00000155846	30022	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRGC2_HUMAN	PPARGC1B	HGNC	.	.	UPI000006F49D	deletion	PPARGC1B,frameshift_variant,p.Ser137AlafsTer30,ENST00000360453,;PPARGC1B,frameshift_variant,p.Ser112AlafsTer30,ENST00000403750,;PPARGC1B,frameshift_variant,p.Ser137AlafsTer69,ENST00000309241,;PPARGC1B,frameshift_variant,p.Ser137AlafsTer69,ENST00000394320,;	435	377	517	SUCCESS
PPARGC1B	133522	.	GRCh37	5	149219652	149219652	+	synonymous_variant	Silent	SNP	C	C	T	rs566927619	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	62	0	ENST00000309241.5:c.2667C>T	p.His889=	p.H889=	ENST00000309241	NM_133263.3	889	caC/caT	0	.	T:0	.	T:0	.	T	H	protein_coding	YES	CCDS4298.1	2667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCACGCCAG	NONE	by1000G	.	hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528,Superfamily_domains:SSF54928	T:0	.	ENSP00000312649	T:0	9/12	.	.	.	.	.	.	.	.	rs566927619	9/12	PASS	ENST00000309241	Transcript	.	T:0.0002	ENSG00000155846	30022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	PRGC2_HUMAN	PPARGC1B	HGNC	.	.	UPI000006F49D	SNV	PPARGC1B,synonymous_variant,p.%3D,ENST00000360453,;PPARGC1B,synonymous_variant,p.%3D,ENST00000403750,;PPARGC1B,synonymous_variant,p.%3D,ENST00000309241,;PPARGC1B,synonymous_variant,p.%3D,ENST00000394320,;PPARGC1B,synonymous_variant,p.%3D,ENST00000434684,;	2699	62	82	SUCCESS
PDE6A	5145	.	GRCh37	5	149262997	149262997	+	synonymous_variant	Silent	SNP	G	G	A	rs750000569	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	93	0	ENST00000255266.5:c.2130C>T	p.Ile710=	p.I710=	ENST00000255266	NM_000440.2	710	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS4299.1	2130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAACGATTTC	NONE	byFrequency	.	hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000255266	.	17/22	.	.	.	.	.	.	.	.	rs750000569,COSM3612400	17/22	PASS	ENST00000255266	Transcript	1	.	ENSG00000132915	8785	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PDE6A_HUMAN	PDE6A	HGNC	O75316_HUMAN	.	UPI000013CE9F	SNV	PDE6A,synonymous_variant,p.%3D,ENST00000255266,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	2250	93	96	SUCCESS
TIGD6	81789	.	GRCh37	5	149375920	149375920	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	22	107	0	ENST00000296736.3:c.-9T>C		p.*3*	ENST00000296736	NM_030953.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGAATGAG	NONE	.	.	.	.	.	ENSP00000296736	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000296736	Transcript	.	.	ENSG00000164296	18332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIGD6_HUMAN	TIGD6	HGNC	.	.	UPI000006D946	SNV	TIGD6,5_prime_UTR_variant,,ENST00000296736,;TIGD6,5_prime_UTR_variant,,ENST00000515406,;SLC26A2,downstream_gene_variant,,ENST00000503336,;HMGXB3,upstream_gene_variant,,ENST00000502717,;HMGXB3,upstream_gene_variant,,ENST00000503427,;TIGD6,downstream_gene_variant,,ENST00000532987,;	767	107	134	SUCCESS
GABRB2	2561	.	GRCh37	5	160721418	160721418	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	80	0	ENST00000274547.2:c.1209C>T	p.Asn403=	p.N403=	ENST00000274547	NM_000813.2	403	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS4355.1	1209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGTTCTC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000274547	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000274547	Transcript	.	.	ENSG00000145864	4082	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRB2_HUMAN	GABRB2	HGNC	D1M715_HUMAN	.	UPI000002AA29	SNV	GABRB2,synonymous_variant,p.%3D,ENST00000274547,;GABRB2,synonymous_variant,p.%3D,ENST00000517547,;GABRB2,synonymous_variant,p.%3D,ENST00000520240,;GABRB2,synonymous_variant,p.%3D,ENST00000393959,;GABRB2,synonymous_variant,p.%3D,ENST00000353437,;GABRB2,synonymous_variant,p.%3D,ENST00000517901,;	1427	80	79	SUCCESS
CCNG1	900	.	GRCh37	5	162869465	162869465	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	31	126	0	ENST00000340828.2:c.782A>C	p.Asn261Thr	p.N261T	ENST00000340828	NM_004060.3	261	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS4360.1	782	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAATGTTC	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF59	.	.	ENSP00000344635	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000340828	Transcript	.	.	ENSG00000113328	1592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	deleterious(0.03)	.	CCNG1_HUMAN	CCNG1	HGNC	D6RGX3_HUMAN,D6RCC5_HUMAN,B4DLW7_HUMAN	.	UPI00001275D2	SNV	CCNG1,missense_variant,p.Asn261Thr,ENST00000340828,;CCNG1,missense_variant,p.Asn261Thr,ENST00000393929,;CCNG1,missense_variant,p.Asn127Thr,ENST00000512163,;CCNG1,missense_variant,p.Asn127Thr,ENST00000511683,;CCNG1,missense_variant,p.Asn133Thr,ENST00000510664,;CCNG1,intron_variant,,ENST00000504553,;AC112205.1,intron_variant,,ENST00000599797,;NUDCD2,downstream_gene_variant,,ENST00000302764,;CCNG1,downstream_gene_variant,,ENST00000511490,;CCNG1,downstream_gene_variant,,ENST00000510097,;CCNG1,upstream_gene_variant,,ENST00000509143,;CCNG1,upstream_gene_variant,,ENST00000509425,;CCNG1,non_coding_transcript_exon_variant,,ENST00000514367,;CCNG1,downstream_gene_variant,,ENST00000506186,;CCNG1,downstream_gene_variant,,ENST00000512532,;	1006	126	138	SUCCESS
MAT2B	27430	.	GRCh37	5	162944539	162944539	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	111	1	ENST00000321757.6:c.721-28A>G		p.*241*	ENST00000321757	NM_013283.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4365.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTATTGAA	NONE	.	.	.	.	.	ENSP00000325425	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321757	Transcript	.	.	ENSG00000038274	6905	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAT2B_HUMAN	MAT2B	HGNC	.	.	UPI0000037B81	SNV	MAT2B,3_prime_UTR_variant,,ENST00000518095,;MAT2B,intron_variant,,ENST00000321757,;MAT2B,intron_variant,,ENST00000421814,;MAT2B,intron_variant,,ENST00000280969,;MAT2B,non_coding_transcript_exon_variant,,ENST00000521838,;MAT2B,intron_variant,,ENST00000523606,;MAT2B,downstream_gene_variant,,ENST00000520449,;	.	113	122	SUCCESS
TENM2	57451	.	GRCh37	5	167626887	167626887	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1464106409	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	10	55	0	ENST00000518659.1:c.3181G>A	p.Glu1061Lys	p.E1061K	ENST00000518659	NM_001122679.1	1061	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	.	3181	RADIA|MUTECT|MUSE|VARSCANS	.	AAATCGAGCTC	NONE	.	.	hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219	.	.	ENSP00000429430	.	17/29	.	.	.	.	.	.	.	.	COSM3248663,COSM3248661,COSM3248662,COSM4155603	17/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	benign(0.016)	.	tolerated(0.76)	1,1,1,1	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Glu1061Lys,ENST00000545108,;TENM2,missense_variant,p.Glu829Lys,ENST00000520394,;TENM2,missense_variant,p.Glu940Lys,ENST00000519204,;TENM2,missense_variant,p.Glu1061Lys,ENST00000518659,;TENM2,missense_variant,p.Glu885Lys,ENST00000403607,;	3220	55	78	SUCCESS
BASP1	10409	.	GRCh37	5	17275523	17275523	+	synonymous_variant	Silent	SNP	C	C	T	rs367590306	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	58	182	1	ENST00000322611.3:c.198C>T	p.Ala66=	p.A66=	ENST00000322611	NM_006317.4	66	gcC/gcT	0	A:0.0002	.	.	.	.	T	A	protein_coding	YES	CCDS3888.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCGAGGA	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	.	A:0	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	rs367590306	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,synonymous_variant,p.%3D,ENST00000322611,;BASP1,downstream_gene_variant,,ENST00000606445,;	458	183	189	SUCCESS
FGFR4	2264	.	GRCh37	5	176518089	176518089	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs777645394	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	75	0	ENST00000292408.4:c.587G>A	p.Arg196His	p.R196H	ENST00000292408	NM_213647.1	196	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4410.1	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGCATTG	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF312,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF48726	.	.	ENSP00000292408	.	5/18	.	.	.	.	.	.	.	.	rs777645394	5/18	PASS	ENST00000292408	Transcript	.	.	ENSG00000160867	3691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FGFR4_HUMAN	FGFR4	HGNC	G3JVM2_HUMAN,E7EWF4_HUMAN,D6RJD4_HUMAN,D6RG06_HUMAN,D6R9V0_HUMAN	.	UPI000012A72D	SNV	FGFR4,missense_variant,p.Arg196His,ENST00000393637,;FGFR4,missense_variant,p.Arg196His,ENST00000292410,;FGFR4,missense_variant,p.Arg196His,ENST00000502906,;FGFR4,missense_variant,p.Arg196His,ENST00000292408,;FGFR4,missense_variant,p.Arg196His,ENST00000393648,;FGFR4,missense_variant,p.Arg196His,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,upstream_gene_variant,,ENST00000511076,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,3_prime_UTR_variant,,ENST00000430285,;FGFR4,non_coding_transcript_exon_variant,,ENST00000509511,;FGFR4,non_coding_transcript_exon_variant,,ENST00000426612,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000508139,;	832	75	78	SUCCESS
PDLIM7	9260	.	GRCh37	5	176916601	176916601	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1261112196	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	60	0	ENST00000355841.2:c.662G>A	p.Arg221His	p.R221H	ENST00000355841	NM_005451.4	221	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS4422.1	662	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCGGCTG	NONE	.	.	hmmpanther:PTHR24214	.	.	ENSP00000348099	.	9/13	.	.	.	.	.	.	.	.	COSM144836	9/13	PASS	ENST00000355841	Transcript	.	.	ENSG00000196923	22958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.165)	.	deleterious(0.03)	1	PDLI7_HUMAN	PDLIM7	HGNC	D6RF83_HUMAN,D6RAN1_HUMAN	.	UPI0000073DEF	SNV	PDLIM7,missense_variant,p.Arg187His,ENST00000359895,;PDLIM7,missense_variant,p.Arg221His,ENST00000355841,;PDLIM7,synonymous_variant,p.%3D,ENST00000393551,;PDLIM7,synonymous_variant,p.%3D,ENST00000356618,;PDLIM7,downstream_gene_variant,,ENST00000506161,;PDLIM7,downstream_gene_variant,,ENST00000355572,;PDLIM7,downstream_gene_variant,,ENST00000506537,;PDLIM7,downstream_gene_variant,,ENST00000505074,;PDLIM7,downstream_gene_variant,,ENST00000393546,;PDLIM7,upstream_gene_variant,,ENST00000505746,;PDLIM7,3_prime_UTR_variant,,ENST00000493815,;PDLIM7,3_prime_UTR_variant,,ENST00000486828,;PDLIM7,downstream_gene_variant,,ENST00000503346,;PDLIM7,downstream_gene_variant,,ENST00000504318,;PDLIM7,downstream_gene_variant,,ENST00000463411,;PDLIM7,downstream_gene_variant,,ENST00000503827,;	729	60	90	SUCCESS
N4BP3	23138	.	GRCh37	5	177548875	177548875	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	58	0	ENST00000274605.5:c.1508A>G	p.Tyr503Cys	p.Y503C	ENST00000274605	NM_015111.1	503	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS34307.1	1508	MUTECT|MUSE|VARSCANS	.	GCGCTACCAGC	NONE	.	.	hmmpanther:PTHR32274,Pfam_domain:PF06818	.	.	ENSP00000274605	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000274605	Transcript	.	.	ENSG00000145911	29852	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	N4BP3_HUMAN	N4BP3	HGNC	.	.	UPI00001C1E2A	SNV	N4BP3,missense_variant,p.Tyr503Cys,ENST00000274605,;	1867	58	74	SUCCESS
COL23A1	91522	.	GRCh37	5	177669109	177669109	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	89	0	ENST00000390654.3:c.1515C>G	p.Gly505=	p.G505=	ENST00000390654	NM_173465.3	505	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS4436.1	1515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGGCCGGG	NONE	.	.	hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000375069	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000390654	Transcript	.	.	ENSG00000050767	22990	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CONA1_HUMAN	COL23A1	HGNC	.	.	UPI0000062274	SNV	COL23A1,synonymous_variant,p.%3D,ENST00000390654,;	1873	89	86	SUCCESS
C5orf38	153571	.	GRCh37	5	2752825	2752825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	23	175	1	ENST00000334000.3:c.290G>T	p.Gly97Val	p.G97V	ENST00000334000	NM_178569.2	97	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS34131.1	290	RADIA|MUTECT|MUSE|VARSCANS	.	GAACGGGCAGG	NONE	.	.	.	.	.	ENSP00000334267	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000334000	Transcript	.	.	ENSG00000186493	24226	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	CEI_HUMAN	C5orf38	HGNC	B7ZL86_HUMAN	.	UPI0000160548	SNV	C5orf38,missense_variant,p.Gly97Val,ENST00000334000,;C5orf38,missense_variant,p.Gly97Val,ENST00000397835,;C5orf38,missense_variant,p.Gly97Val,ENST00000505778,;C5orf38,missense_variant,p.Gly97Val,ENST00000515640,;C5orf38,intron_variant,,ENST00000457752,;IRX2,upstream_gene_variant,,ENST00000382611,;IRX2,upstream_gene_variant,,ENST00000302057,;IRX2,non_coding_transcript_exon_variant,,ENST00000502957,;C5orf38,3_prime_UTR_variant,,ENST00000503940,;C5orf38,3_prime_UTR_variant,,ENST00000505106,;	407	176	199	SUCCESS
IRX1	79192	.	GRCh37	5	3600104	3600104	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1464348939	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	89	1	ENST00000302006.3:c.1042G>A	p.Ala348Thr	p.A348T	ENST00000302006	NM_024337.3	348	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34132.1	1042	MUTECT|MUSE	.	CCTCCGCCGGG	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,Low_complexity_(Seg):seg	.	.	ENSP00000305244	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.61)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Ala348Thr,ENST00000302006,;CTD-2012M11.3,non_coding_transcript_exon_variant,,ENST00000559410,;	1094	91	114	SUCCESS
CCNH	902	.	GRCh37	5	86708674	86708674	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	41	0	ENST00000256897.4:c.-63C>A		p.*21*	ENST00000256897	NM_001239.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4064.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGCGTAA	NONE	.	.	.	.	.	ENSP00000256897	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000256897	Transcript	.	.	ENSG00000134480	1594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNH_HUMAN	CCNH	HGNC	D6RHI7_HUMAN	.	UPI0000048D5B	SNV	CCNH,5_prime_UTR_variant,,ENST00000256897,;CCNH,5_prime_UTR_variant,,ENST00000504878,;CCNH,upstream_gene_variant,,ENST00000508855,;CCNH,non_coding_transcript_exon_variant,,ENST00000510020,;CCNH,non_coding_transcript_exon_variant,,ENST00000513499,;CCNH,upstream_gene_variant,,ENST00000505230,;CCNH,upstream_gene_variant,,ENST00000505587,;CCNH,upstream_gene_variant,,ENST00000504115,;	163	41	32	SUCCESS
NR2F1	7025	.	GRCh37	5	92923806	92923806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	15	129	0	ENST00000327111.3:c.647T>C	p.Ile216Thr	p.I216T	ENST00000327111	NM_005654.4	216	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS4068.1	647	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCATCGAGA	NONE	.	.	hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF46,Gene3D:1.10.565.10,Pfam_domain:PF00104,Superfamily_domains:SSF48508,Prints_domain:PR01282	.	.	ENSP00000325819	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000327111	Transcript	1	.	ENSG00000175745	7975	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.988)	.	deleterious(0.01)	.	COT1_HUMAN	NR2F1	HGNC	.	.	UPI0000000C58	SNV	NR2F1,missense_variant,p.Ile216Thr,ENST00000327111,;NR2F1-AS1,upstream_gene_variant,,ENST00000513055,;NR2F1,non_coding_transcript_exon_variant,,ENST00000512697,;NR2F1,non_coding_transcript_exon_variant,,ENST00000502982,;NR2F1,upstream_gene_variant,,ENST00000506162,;	2334	129	114	SUCCESS
ASCC3	10973	.	GRCh37	6	101247376	101247376	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	37	0	ENST00000369162.2:c.1200A>G	p.Ile400Met	p.I400M	ENST00000369162	NM_006828.2	400	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS5046.1	1200	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGTATTTT	NONE	.	.	hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752	.	.	ENSP00000358159	.	7/42	.	.	.	.	.	.	.	.	.	7/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.11)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Ile400Met,ENST00000369162,;ASCC3,missense_variant,p.Ile400Met,ENST00000522650,;ASCC3,3_prime_UTR_variant,,ENST00000324696,;	1545	37	43	SUCCESS
HIVEP1	3096	.	GRCh37	6	12124209	12124209	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs755401282	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	139	25	112	0	ENST00000379388.2:c.4184del	p.Pro1395HisfsTer21	p.P1395Hfs*21	ENST00000379388	NM_002114.2	1394	aCc/ac	0	.	.	.	.	.	-	T/X	protein_coding	YES	CCDS43426.1	4181	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATCACCCCAC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	.	.	ENSP00000368698	.	4/9	.	.	.	.	.	.	.	.	rs755401282	4/9	PASS	ENST00000379388	Transcript	.	.	ENSG00000095951	4920	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZEP1_HUMAN	HIVEP1	HGNC	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN	.	UPI000020D52B	deletion	HIVEP1,frameshift_variant,p.Pro1395HisfsTer21,ENST00000379388,;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	4513	112	164	SUCCESS
ZBTB2	57621	.	GRCh37	6	151687009	151687009	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	6	148	0	ENST00000325144.4:c.1192A>G	p.Ser398Gly	p.S398G	ENST00000325144	NM_020861.1	398	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS5231.1	1192	MUTECT|MUSE	.	AAAGCTTTTGT	NONE	.	.	hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000323183	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325144	Transcript	.	.	ENSG00000181472	20868	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.982)	.	tolerated(0.05)	.	ZBTB2_HUMAN	ZBTB2	HGNC	Q658W5_HUMAN	.	UPI00000728EE	SNV	ZBTB2,missense_variant,p.Ser398Gly,ENST00000325144,;	1333	148	143	SUCCESS
FBXO5	26271	.	GRCh37	6	153296638	153296638	+	synonymous_variant	Silent	SNP	G	G	A	rs143943044	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	22	69	0	ENST00000229758.3:c.222C>T	p.Tyr74=	p.Y74=	ENST00000229758	NM_012177.3	74	taC/taT	0	A:0.0005	.	.	.	.	A	Y	protein_coding	YES	CCDS5242.1	222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTGTAGGA	NONE	byCluster	.	hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF8	.	A:0.0001	ENSP00000229758	.	2/5	.	.	.	.	.	.	.	.	rs143943044	2/5	PASS	ENST00000229758	Transcript	.	.	ENSG00000112029	13584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX5_HUMAN	FBXO5	HGNC	.	.	UPI000012A585	SNV	FBXO5,synonymous_variant,p.%3D,ENST00000229758,;FBXO5,synonymous_variant,p.%3D,ENST00000367241,;FBXO5,upstream_gene_variant,,ENST00000477822,;	281	69	82	SUCCESS
ZDHHC14	79683	.	GRCh37	6	158014023	158014023	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs760821344	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	134	18	157	0	ENST00000359775.5:c.410T>A	p.Ile137Asn	p.I137N	ENST00000359775		137	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS5252.1	410	RADIA|MUTECT|MUSE|VARSCANS	.	AGATATCGCAA	NONE	byFrequency	.	hmmpanther:PTHR22883:SF28,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000352821	.	3/9	.	.	.	.	.	.	.	.	rs760821344	3/9	PASS	ENST00000359775	Transcript	.	.	ENSG00000175048	20341	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	tolerated(0.34)	.	ZDH14_HUMAN	ZDHHC14	HGNC	B3KRY1_HUMAN	.	UPI00000740DB	SNV	ZDHHC14,missense_variant,p.Ile137Asn,ENST00000359775,;ZDHHC14,missense_variant,p.Ile137Asn,ENST00000414563,;ZDHHC14,upstream_gene_variant,,ENST00000340347,;ZDHHC14,non_coding_transcript_exon_variant,,ENST00000341375,;ZDHHC14,missense_variant,p.Ile56Asn,ENST00000518214,;ZDHHC14,non_coding_transcript_exon_variant,,ENST00000523468,;	1299	157	153	SUCCESS
SYNJ2	8871	.	GRCh37	6	158487675	158487675	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	5	53	0	ENST00000355585.4:c.1717+8C>G		p.X573_splice	ENST00000355585	NM_001178088.1	573		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5254.1	.	MUTECT|MUSE	.	GAGGGCAGTGA	NONE	.	.	.	.	.	ENSP00000347792	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000355585	Transcript	.	.	ENSG00000078269	11504	.	.	LOW	12/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNJ2_HUMAN	SYNJ2	HGNC	B4DLC4_HUMAN	.	UPI000006E2F8	SNV	SYNJ2,synonymous_variant,p.%3D,ENST00000449859,;SYNJ2,splice_region_variant,,ENST00000367121,;SYNJ2,splice_region_variant,,ENST00000355585,;SYNJ2,splice_region_variant,,ENST00000367122,;SYNJ2,downstream_gene_variant,,ENST00000485863,;	.	54	50	SUCCESS
FAM120B	84498	.	GRCh37	6	170697398	170697398	+	synonymous_variant	Silent	SNP	C	C	A	rs747035229	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	11	82	0	ENST00000476287.1:c.2307C>A	p.Ala769=	p.A769=	ENST00000476287	NM_032448.1	769	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5314.1	2307	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCGTGCA	NONE	.	.	hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7	.	.	ENSP00000417970	.	7/11	.	.	.	.	.	.	.	.	rs747035229	7/11	PASS	ENST00000476287	Transcript	.	.	ENSG00000112584	21109	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F120B_HUMAN	FAM120B	HGNC	B4DL34_HUMAN	.	UPI000006DC13	SNV	FAM120B,synonymous_variant,p.%3D,ENST00000476287,;FAM120B,synonymous_variant,p.%3D,ENST00000537664,;FAM120B,synonymous_variant,p.%3D,ENST00000252510,;FAM120B,synonymous_variant,p.%3D,ENST00000540480,;	2415	82	79	SUCCESS
NUP153	9972	.	GRCh37	6	17629463	17629463	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	57	166	0	ENST00000262077.2:c.2967A>G	p.Leu989=	p.L989=	ENST00000262077	NM_001278210.1	989	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4541.1	2967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTTAAACC	NONE	.	.	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	.	.	ENSP00000262077	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000262077	Transcript	.	.	ENSG00000124789	8062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NU153_HUMAN	NUP153	HGNC	.	.	UPI000013D251	SNV	NUP153,synonymous_variant,p.%3D,ENST00000537253,;NUP153,synonymous_variant,p.%3D,ENST00000262077,;	2967	166	182	SUCCESS
FAM65B	0	.	GRCh37	6	24850823	24850823	+	splice_donor_variant	Splice_Site	SNP	A	A	G	rs768539557	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	56	0	ENST00000259698.4:c.798+2T>C		p.X266_splice	ENST00000259698	NM_014722.2	266		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47383.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTACCTTG	NONE	.	.	.	.	.	ENSP00000259698	.	.	.	.	.	.	.	.	.	.	rs768539557	.	PASS	ENST00000259698	Transcript	.	.	ENSG00000111913	13872	.	.	HIGH	10/22	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA65B_HUMAN	FAM65B	HGNC	H3BP45_HUMAN	.	UPI0000EE554D	SNV	FAM65B,splice_donor_variant,,ENST00000538035,;FAM65B,splice_donor_variant,,ENST00000378023,;FAM65B,splice_donor_variant,,ENST00000540914,;FAM65B,splice_donor_variant,,ENST00000259698,;FAM65B,splice_donor_variant,,ENST00000510784,;	.	56	61	SUCCESS
ZSCAN16	80345	.	GRCh37	6	28097499	28097499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	10	88	0	ENST00000340487.4:c.818T>C	p.Phe273Ser	p.F273S	ENST00000340487	NM_025231.1	273	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS4644.1	818	MUTECT|MUSE|VARSCANS	.	AGCCTTCATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF52,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000366527	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340487	Transcript	.	.	ENSG00000196812	20813	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZSC16_HUMAN	ZSCAN16	HGNC	.	.	UPI000013A46E	SNV	ZSCAN16,missense_variant,p.Phe273Ser,ENST00000340487,;ZSCAN16-AS1,intron_variant,,ENST00000602810,;ZSCAN16-AS1,intron_variant,,ENST00000600652,;	967	88	106	SUCCESS
UBD	10537	.	GRCh37	6	29523920	29523920	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	49	182	0	ENST00000377050.4:c.235A>T	p.Lys79Ter	p.K79*	ENST00000377050	NM_006398.3	79	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS4662.1	235	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTTCAGGG	NONE	.	.	PROSITE_profiles:PS50053,PROSITE_profiles:PS50053,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF5,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236	.	.	ENSP00000366249	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377050	Transcript	.	.	ENSG00000213886	18795	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBD_HUMAN	UBD	HGNC	.	.	UPI000006F505	SNV	UBD,stop_gained,p.Lys79Ter,ENST00000377050,;GABBR1,3_prime_UTR_variant,,ENST00000355973,;OR2I1P,downstream_gene_variant,,ENST00000453522,;OR2I1P,downstream_gene_variant,,ENST00000449341,;	459	182	205	SUCCESS
DDR1	780	.	GRCh37	6	30863232	30863232	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145280414	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	8	43	0	ENST00000324771.8:c.1565G>A	p.Arg522His	p.R522H	ENST00000324771		522	cGt/cAt	0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS47396.1	1565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGTCCCC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF65	.	A:0.0001	ENSP00000365759	.	14/20	.	.	.	.	.	.	.	.	rs145280414,COSM252466,COSM252467	14/20	PASS	ENST00000376575	Transcript	.	.	ENSG00000204580	2730	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.676)	.	tolerated(0.42)	0,1,1	DDR1_HUMAN	DDR1	HGNC	E7EXB0_HUMAN,E7EX99_HUMAN,E7EVW6_HUMAN,E7EVT1_HUMAN,E7EUD5_HUMAN,E7ETX3_HUMAN,E7ETI3_HUMAN,E7ESR9_HUMAN,E7ES06_HUMAN,E7ERN0_HUMAN,E7ERI6_HUMAN,E7EQ30_HUMAN,E7EQ23_HUMAN,E7EPN2_HUMAN,E7EPH4_HUMAN,E7ENJ2_HUMAN,E7EN94_HUMAN,D6RGW5_HUMAN,D6RBU7_HUMAN,D6RB82_HUMAN,D6RB35_HUMAN,D6R9C4_HUMAN,A2ABL2_HUMAN,A2ABL0_HUMAN	.	UPI0000146C6D	SNV	DDR1,missense_variant,p.Arg522His,ENST00000376575,;DDR1,missense_variant,p.Arg522His,ENST00000376568,;DDR1,missense_variant,p.Val291Ile,ENST00000417521,;DDR1,missense_variant,p.Arg522His,ENST00000324771,;DDR1,missense_variant,p.Arg522His,ENST00000513240,;DDR1,missense_variant,p.Val226Ile,ENST00000361741,;DDR1,missense_variant,p.Arg522His,ENST00000452441,;DDR1,intron_variant,,ENST00000376567,;DDR1,intron_variant,,ENST00000508312,;DDR1,intron_variant,,ENST00000376569,;DDR1,intron_variant,,ENST00000418800,;DDR1,intron_variant,,ENST00000514434,;DDR1,intron_variant,,ENST00000446312,;DDR1,intron_variant,,ENST00000376570,;DDR1,intron_variant,,ENST00000454612,;DDR1,downstream_gene_variant,,ENST00000503495,;DDR1,downstream_gene_variant,,ENST00000421124,;DDR1,downstream_gene_variant,,ENST00000504927,;DDR1,downstream_gene_variant,,ENST00000460944,;DDR1,upstream_gene_variant,,ENST00000484556,;DDR1,downstream_gene_variant,,ENST00000424544,;DDR1,downstream_gene_variant,,ENST00000515219,;DDR1,downstream_gene_variant,,ENST00000511510,;DDR1,downstream_gene_variant,,ENST00000512694,;DDR1,downstream_gene_variant,,ENST00000396342,;DDR1,downstream_gene_variant,,ENST00000428153,;DDR1,downstream_gene_variant,,ENST00000437124,;MIR4640,downstream_gene_variant,,ENST00000581824,;DDR1,intron_variant,,ENST00000513514,;DDR1,intron_variant,,ENST00000465966,;DDR1,downstream_gene_variant,,ENST00000508472,;DDR1,intron_variant,,ENST00000482873,;DDR1,downstream_gene_variant,,ENST00000513749,;DDR1,downstream_gene_variant,,ENST00000507533,;DDR1,downstream_gene_variant,,ENST00000514534,;DDR1,downstream_gene_variant,,ENST00000431373,;DDR1,downstream_gene_variant,,ENST00000485023,;DDR1,downstream_gene_variant,,ENST00000503628,;	1898	43	46	SUCCESS
VWA7	80737	.	GRCh37	6	31741028	31741028	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	44	0	ENST00000375688.4:c.908A>G	p.Asp303Gly	p.D303G	ENST00000375688		303	gAt/gGt	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS4721.2	908	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATCCCTG	NONE	.	.	hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	.	.	ENSP00000364840	.	6/17	.	.	.	.	.	.	.	.	.	6/17	PASS	ENST00000375688	Transcript	.	.	ENSG00000204396	13939	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	VWA7_HUMAN	VWA7	HGNC	.	.	UPI0000E5AD19	SNV	VWA7,missense_variant,p.Asp303Gly,ENST00000447450,;VWA7,missense_variant,p.Asp303Gly,ENST00000375688,;VWA7,missense_variant,p.Asp303Gly,ENST00000375686,;VARS,downstream_gene_variant,,ENST00000375663,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,upstream_gene_variant,,ENST00000487013,;VWA7,downstream_gene_variant,,ENST00000497645,;VARS,downstream_gene_variant,,ENST00000470953,;	1109	44	54	SUCCESS
VARS	0	.	GRCh37	6	31749894	31749894	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	12	115	0	ENST00000375663.3:c.2211T>G	p.Thr737=	p.T737=	ENST00000375663	NM_006295.2	737	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS34412.1	2211	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACAGTGAC	NONE	.	.	Superfamily_domains:SSF52374,Pfam_domain:PF00133,TIGRFAM_domain:TIGR00422,Gene3D:3.40.50.620,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF54,HAMAP:MF_02004	.	.	ENSP00000364815	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000375663	Transcript	.	.	ENSG00000204394	12651	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYVC_HUMAN	VARS	HGNC	A2ABF4_HUMAN	.	UPI00001366EA	SNV	VARS,synonymous_variant,p.%3D,ENST00000428445,;VARS,synonymous_variant,p.%3D,ENST00000375663,;VARS,3_prime_UTR_variant,,ENST00000444930,;VWA7,upstream_gene_variant,,ENST00000375686,;VWA7,upstream_gene_variant,,ENST00000447450,;VWA7,upstream_gene_variant,,ENST00000375688,;Y_RNA,upstream_gene_variant,,ENST00000364685,;VARS,non_coding_transcript_exon_variant,,ENST00000482996,;VARS,non_coding_transcript_exon_variant,,ENST00000483275,;VWA7,upstream_gene_variant,,ENST00000467576,;VARS,upstream_gene_variant,,ENST00000470953,;VARS,non_coding_transcript_exon_variant,,ENST00000474643,;VARS,non_coding_transcript_exon_variant,,ENST00000461874,;VARS,downstream_gene_variant,,ENST00000495010,;VARS,upstream_gene_variant,,ENST00000463184,;VARS,downstream_gene_variant,,ENST00000461328,;VARS,upstream_gene_variant,,ENST00000479051,;VARS,downstream_gene_variant,,ENST00000489979,;VARS,upstream_gene_variant,,ENST00000459667,;	2652	115	126	SUCCESS
C4A	720	.	GRCh37	6	31963890	31963890	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	519	15	420	0	ENST00000428956.2:c.3387+2T>A		p.X1129_splice	ENST00000428956	NM_007293.2	1129		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47404.1	.	MUTECT|MUSE	.	GCAGGTGCGGG	NONE	.	.	.	.	.	ENSP00000396688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428956	Transcript	.	.	ENSG00000244731	1323	.	.	HIGH	26/40	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A_HUMAN	C4A	HGNC	Q9UMV1_HUMAN,Q9UM89_HUMAN,Q6U2K2_HUMAN,Q6U2E7_HUMAN,Q6U2E0_HUMAN	.	UPI00001AF648	SNV	C4A,splice_donor_variant,,ENST00000498271,;C4A,splice_donor_variant,,ENST00000428956,;C4A-AS1,downstream_gene_variant,,ENST00000458633,;C4A,downstream_gene_variant,,ENST00000496659,;C4A,downstream_gene_variant,,ENST00000460841,;C4A,downstream_gene_variant,,ENST00000483974,;C4A,upstream_gene_variant,,ENST00000491876,;C4A,upstream_gene_variant,,ENST00000480795,;C4A,upstream_gene_variant,,ENST00000463034,;C4A,upstream_gene_variant,,ENST00000469975,;C4A,upstream_gene_variant,,ENST00000470365,;C4A,upstream_gene_variant,,ENST00000471624,;C4A,upstream_gene_variant,,ENST00000460060,;	.	421	534	SUCCESS
RXRB	6257	.	GRCh37	6	33164232	33164233	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	94	9	81	0	ENST00000374680.3:c.971dup	p.Thr325AsnfsTer4	p.T325Nfs*4	ENST00000374680	NM_021976.4	324	gga/ggGa	0	.	.	.	.	.	C	G/GX	protein_coding	YES	CCDS59007.1	971-972	INDELOCATOR|VARSCANI	.	CCGGTTCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000363817	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	insertion	RXRB,frameshift_variant,p.Thr229AsnfsTer4,ENST00000413614,;RXRB,frameshift_variant,p.Thr325AsnfsTer4,ENST00000374680,;RXRB,frameshift_variant,p.Thr325AsnfsTer4,ENST00000374685,;RXRB,frameshift_variant,p.Thr135AsnfsTer4,ENST00000544186,;COL11A2,upstream_gene_variant,,ENST00000395197,;SLC39A7,upstream_gene_variant,,ENST00000374675,;COL11A2,upstream_gene_variant,,ENST00000395194,;SLC39A7,upstream_gene_variant,,ENST00000444757,;COL11A2,upstream_gene_variant,,ENST00000361917,;SLC39A7,upstream_gene_variant,,ENST00000374677,;COL11A2,upstream_gene_variant,,ENST00000374712,;COL11A2,upstream_gene_variant,,ENST00000357486,;COL11A2,upstream_gene_variant,,ENST00000374708,;COL11A2,upstream_gene_variant,,ENST00000341947,;COL11A2,upstream_gene_variant,,ENST00000374714,;COL11A2,upstream_gene_variant,,ENST00000374713,;COL11A2,upstream_gene_variant,,ENST00000457788,;RNY4P10,upstream_gene_variant,,ENST00000365571,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000481441,;RXRB,upstream_gene_variant,,ENST00000483821,;	1109-1110	81	103	SUCCESS
VPS52	6293	.	GRCh37	6	33239413	33239413	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	16	119	0	ENST00000445902.2:c.40C>T	p.Leu14=	p.L14=	ENST00000445902	NM_022553.4	14	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS4770.2	40	RADIA|MUTECT|MUSE|VARSCANS	.	CACCAGTTCCC	NONE	.	.	.	.	.	ENSP00000409952	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,synonymous_variant,p.%3D,ENST00000482399,;VPS52,synonymous_variant,p.%3D,ENST00000445902,;VPS52,intron_variant,,ENST00000436044,;RPS18,upstream_gene_variant,,ENST00000474973,;RPS18,upstream_gene_variant,,ENST00000439602,;VPS52,intron_variant,,ENST00000464425,;VPS52,intron_variant,,ENST00000463486,;VPS52,intron_variant,,ENST00000478934,;RPS18,upstream_gene_variant,,ENST00000476222,;RPS18,upstream_gene_variant,,ENST00000472218,;RPS18,upstream_gene_variant,,ENST00000496813,;RPS18,upstream_gene_variant,,ENST00000490191,;RPS18,upstream_gene_variant,,ENST00000479802,;VPS52,upstream_gene_variant,,ENST00000493379,;RPS18,upstream_gene_variant,,ENST00000474626,;VPS52,upstream_gene_variant,,ENST00000495755,;	259	119	132	SUCCESS
TEAD3	7005	.	GRCh37	6	35443844	35443844	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	55	0	ENST00000338863.7:c.752T>A	p.Ile251Asn	p.I251N	ENST00000338863	NM_003214.3	251	aTc/aAc	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS47414.1	752	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGATGTGC	NONE	.	.	hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF1,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500720	.	.	ENSP00000345772	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000338863	Transcript	.	.	ENSG00000007866	11716	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TEAD3_HUMAN	TEAD3	HGNC	.	.	UPI000015C249	SNV	TEAD3,missense_variant,p.Ile162Asn,ENST00000433586,;TEAD3,missense_variant,p.Ile191Asn,ENST00000402886,;TEAD3,missense_variant,p.Ile251Asn,ENST00000338863,;	980	55	82	SUCCESS
DAAM2	23500	.	GRCh37	6	39867871	39867871	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1047541318	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	10	69	0	ENST00000274867.4:c.2698C>T	p.Arg900Cys	p.R900C	ENST00000274867	NM_001201427.1	900	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS56426.1	2698	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGCCAG	NONE	.	.	Superfamily_domains:SSF101447,SMART_domains:SM00498,Pfam_domain:PF02181,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,PROSITE_profiles:PS51444	.	.	ENSP00000381876	.	23/25	.	.	.	.	.	.	.	.	COSM3430651	23/25	PASS	ENST00000398904	Transcript	.	.	ENSG00000146122	18143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0)	.	deleterious(0.04)	1	DAAM2_HUMAN	DAAM2	HGNC	.	.	UPI000020DC88	SNV	DAAM2,missense_variant,p.Arg899Cys,ENST00000538976,;DAAM2,missense_variant,p.Arg900Cys,ENST00000274867,;DAAM2,missense_variant,p.Arg900Cys,ENST00000398904,;MOCS1,downstream_gene_variant,,ENST00000373188,;MOCS1,downstream_gene_variant,,ENST00000373175,;MOCS1,downstream_gene_variant,,ENST00000308559,;MOCS1,downstream_gene_variant,,ENST00000373186,;RP11-61I13.3,upstream_gene_variant,,ENST00000606829,;RP11-61I13.3,upstream_gene_variant,,ENST00000430595,;RP11-61I13.3,upstream_gene_variant,,ENST00000420293,;RP11-61I13.3,upstream_gene_variant,,ENST00000437947,;MOCS1,intron_variant,,ENST00000373181,;	2880	69	84	SUCCESS
LRFN2	57497	.	GRCh37	6	40360329	40360329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	65	0	ENST00000338305.6:c.1723G>A	p.Val575Met	p.V575M	ENST00000338305	NM_020737.1	575	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS34443.1	1723	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACACATTGC	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25	.	.	ENSP00000345985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338305	Transcript	.	.	ENSG00000156564	21226	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.065)	.	tolerated(0.17)	.	LRFN2_HUMAN	LRFN2	HGNC	.	.	UPI00001C1E47	SNV	LRFN2,missense_variant,p.Val575Met,ENST00000338305,;	2266	65	52	SUCCESS
FAM217A	222826	.	GRCh37	6	4069257	4069259	+	inframe_deletion	In_Frame_Del	DEL	ATC	ATC	-	rs760518162	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	ATC	ATC	.	.	.	.	.	.	.	.	.	.	.	.	.	145	28	127	0	ENST00000274673.3:c.1198_1200del	p.Asp400del	p.D400del	ENST00000274673	NM_173563.2	400	GAT/-	0	.	.	.	.	.	-	D/-	protein_coding	YES	CCDS4489.1	1198-1200	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCTTATCATAAG	NONE	.	.	hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF4,Pfam_domain:PF15344	.	.	ENSP00000274673	.	7/7	.	.	.	.	.	.	.	.	rs760518162	7/7	PASS	ENST00000274673	Transcript	.	.	ENSG00000145975	21362	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F217A_HUMAN	FAM217A	HGNC	C9J6U0_HUMAN,C9J5H0_HUMAN	.	UPI0000160AA7	deletion	FAM217A,inframe_deletion,p.Asp400del,ENST00000274673,;FAM217A,downstream_gene_variant,,ENST00000498677,;FAM217A,downstream_gene_variant,,ENST00000492651,;FAM217A,non_coding_transcript_exon_variant,,ENST00000380188,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,downstream_gene_variant,,ENST00000461612,;FAM217A,downstream_gene_variant,,ENST00000478714,;PRPF4B,downstream_gene_variant,,ENST00000463634,;PRPF4B,downstream_gene_variant,,ENST00000481109,;PRPF4B,downstream_gene_variant,,ENST00000480058,;	1602-1604	127	173	SUCCESS
PRICKLE4	29964	.	GRCh37	6	41754061	41754061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	6	41	0	ENST00000359201.5:c.778G>A	p.Ala260Thr	p.A260T	ENST00000359201		260	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS34449.1	778	MUTECT|MUSE	.	GGCAGGCATTC	NONE	.	.	hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF34	.	.	ENSP00000404911	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000458694	Transcript	.	.	ENSG00000124593	16805	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.15)	.	PRIC4_HUMAN	PRICKLE4	HGNC	.	.	UPI000020DCD5	SNV	PRICKLE4,missense_variant,p.Ala260Thr,ENST00000394263,;PRICKLE4,missense_variant,p.Ala260Thr,ENST00000359201,;PRICKLE4,missense_variant,p.Ala220Thr,ENST00000394259,;PRICKLE4,missense_variant,p.Ala220Thr,ENST00000394260,;PRICKLE4,missense_variant,p.Ala260Thr,ENST00000458694,;FRS3,intron_variant,,ENST00000422888,;TOMM6,upstream_gene_variant,,ENST00000398881,;USP49,downstream_gene_variant,,ENST00000394253,;TOMM6,upstream_gene_variant,,ENST00000398884,;PRICKLE4,downstream_gene_variant,,ENST00000463606,;PRICKLE4,missense_variant,p.Ala260Thr,ENST00000335515,;PRICKLE4,3_prime_UTR_variant,,ENST00000456057,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000487182,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000483200,;	1026	41	59	SUCCESS
GNMT	27232	.	GRCh37	6	42930828	42930828	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs563826316	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	25	0	ENST00000372808.3:c.470G>A	p.Arg157Gln	p.R157Q	ENST00000372808	NM_018960.4	157	cGg/cAg	0	.	A:0	.	A:0	.	A	R/Q	protein_coding	YES	CCDS4876.1	470	RADIA|MUTECT|MUSE	.	GCACCGGCTGG	NONE	by1000G	.	Superfamily_domains:SSF53335,PIRSF_domain:PIRSF000385,Pfam_domain:PF12847,Gene3D:3.40.50.150,hmmpanther:PTHR16458,PROSITE_profiles:PS51600	A:0	.	ENSP00000361894	A:0	4/6	.	.	.	.	.	.	.	.	rs563826316	4/6	PASS	ENST00000372808	Transcript	.	A:0.0002	ENSG00000124713	4415	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.011)	A:0.001	deleterious(0.01)	.	GNMT_HUMAN	GNMT	HGNC	.	.	UPI000000161D	SNV	GNMT,missense_variant,p.Arg157Gln,ENST00000372808,;PEX6,downstream_gene_variant,,ENST00000304611,;PEX6,downstream_gene_variant,,ENST00000244546,;	480	25	47	SUCCESS
CUL9	23113	.	GRCh37	6	43172484	43172484	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	rs1364960889	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	81	0	ENST00000252050.4:c.4340-2A>C		p.X1447_splice	ENST00000252050	NM_015089.2	1447		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4890.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACAGTCAG	NONE	.	.	.	.	.	ENSP00000252050	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	HIGH	21/40	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,splice_acceptor_variant,,ENST00000354495,;CUL9,splice_acceptor_variant,,ENST00000372647,;CUL9,splice_acceptor_variant,,ENST00000252050,;CUL9,upstream_gene_variant,,ENST00000502937,;CUL9,splice_acceptor_variant,,ENST00000515773,;CUL9,splice_acceptor_variant,,ENST00000512408,;CUL9,downstream_gene_variant,,ENST00000515344,;CUL9,upstream_gene_variant,,ENST00000504485,;CUL9,upstream_gene_variant,,ENST00000505172,;CUL9,upstream_gene_variant,,ENST00000502719,;	.	81	90	SUCCESS
CUL9	23113	.	GRCh37	6	43181302	43181302	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747458428	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	52	1	ENST00000252050.4:c.5485G>A	p.Gly1829Arg	p.G1829R	ENST00000252050	NM_015089.2	1829	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS4890.1	5485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACGGGGGT	NONE	byFrequency	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Pfam_domain:PF00888	.	.	ENSP00000252050	.	28/41	.	.	.	.	.	.	.	.	rs747458428,rs764807102	28/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.33)	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,missense_variant,p.Gly1719Arg,ENST00000354495,;CUL9,missense_variant,p.Gly1829Arg,ENST00000372647,;CUL9,missense_variant,p.Gly1829Arg,ENST00000252050,;RP3-330M21.5,downstream_gene_variant,,ENST00000500590,;CUL9,non_coding_transcript_exon_variant,,ENST00000502937,;CUL9,3_prime_UTR_variant,,ENST00000502719,;CUL9,non_coding_transcript_exon_variant,,ENST00000513904,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000505172,;CUL9,upstream_gene_variant,,ENST00000506830,;CUL9,upstream_gene_variant,,ENST00000508656,;CUL9,downstream_gene_variant,,ENST00000504485,;	5569	53	75	SUCCESS
CUL9	23113	.	GRCh37	6	43192000	43192000	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	13	99	0	ENST00000252050.4:c.7371C>A	p.Ser2457=	p.S2457=	ENST00000252050	NM_015089.2	2457	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS4890.1	7371	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCCTCAGG	NONE	.	.	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	.	.	ENSP00000252050	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000252050	Transcript	.	.	ENSG00000112659	15982	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CUL9_HUMAN	CUL9	HGNC	.	.	UPI000006F22F	SNV	CUL9,synonymous_variant,p.%3D,ENST00000354495,;CUL9,synonymous_variant,p.%3D,ENST00000372647,;CUL9,synonymous_variant,p.%3D,ENST00000252050,;DNPH1,downstream_gene_variant,,ENST00000509253,;DNPH1,downstream_gene_variant,,ENST00000393987,;DNPH1,downstream_gene_variant,,ENST00000230431,;RP3-330M21.5,upstream_gene_variant,,ENST00000500590,;CUL9,3_prime_UTR_variant,,ENST00000506830,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000504647,;CUL9,non_coding_transcript_exon_variant,,ENST00000503766,;CUL9,downstream_gene_variant,,ENST00000512423,;DNPH1,downstream_gene_variant,,ENST00000505042,;CUL9,downstream_gene_variant,,ENST00000508656,;CUL9,downstream_gene_variant,,ENST00000505405,;	7455	99	117	SUCCESS
GTPBP2	54676	.	GRCh37	6	43593198	43593198	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754279234	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	23	93	0	ENST00000307126.5:c.607C>T	p.Arg203Trp	p.R203W	ENST00000307126	NM_019096.3	203	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS4903.1	607	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGGCCCC	NONE	.	.	hmmpanther:PTHR23115:SF24,hmmpanther:PTHR23115,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540	.	.	ENSP00000303997	.	5/12	.	.	.	.	.	.	.	.	rs754279234	5/12	PASS	ENST00000307126	Transcript	.	.	ENSG00000172432	4670	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	tolerated(0.14)	.	GTPB2_HUMAN	GTPBP2	HGNC	.	.	UPI0000070C45	SNV	GTPBP2,missense_variant,p.Arg115Trp,ENST00000307114,;GTPBP2,missense_variant,p.Arg195Trp,ENST00000452781,;GTPBP2,missense_variant,p.Arg203Trp,ENST00000307126,;GTPBP2,missense_variant,p.Arg169Trp,ENST00000442748,;MAD2L1BP,upstream_gene_variant,,ENST00000451025,;GTPBP2,upstream_gene_variant,,ENST00000419497,;GTPBP2,upstream_gene_variant,,ENST00000432918,;GTPBP2,non_coding_transcript_exon_variant,,ENST00000480263,;GTPBP2,non_coding_transcript_exon_variant,,ENST00000476510,;GTPBP2,upstream_gene_variant,,ENST00000459959,;GTPBP2,upstream_gene_variant,,ENST00000496137,;	607	93	133	SUCCESS
MAD2L1BP	9587	.	GRCh37	6	43608203	43608203	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778948277	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	82	0	ENST00000372171.4:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000372171	NM_014628.2	253	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS47431.1	854	MUTECT|MUSE	.	CATCCGAACCA	NONE	.	.	hmmpanther:PTHR15681,hmmpanther:PTHR15681:SF1,Pfam_domain:PF06581	.	.	ENSP00000410818	.	4/4	.	.	.	.	.	.	.	.	rs778948277	4/4	PASS	ENST00000451025	Transcript	.	.	ENSG00000124688	21059	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.65)	.	MD2BP_HUMAN	MAD2L1BP	HGNC	.	.	UPI000020DDDB	SNV	MAD2L1BP,missense_variant,p.Arg285Gln,ENST00000451025,;MAD2L1BP,missense_variant,p.Arg253Gln,ENST00000372171,;RSPH9,upstream_gene_variant,,ENST00000372163,;RSPH9,upstream_gene_variant,,ENST00000372165,;MAD2L1BP,downstream_gene_variant,,ENST00000508232,;	1064	82	110	SUCCESS
TFAP2D	83741	.	GRCh37	6	50740417	50740417	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	22	122	1	ENST00000008391.3:c.1199C>T	p.Thr400Ile	p.T400I	ENST00000008391	NM_172238.3	400	aCa/aTa	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS4933.1	1199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAACAGTTC	NONE	.	.	Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5	.	.	ENSP00000008391	.	8/8	.	.	.	.	.	.	.	.	COSM1329638,COSM742624	8/8	PASS	ENST00000008391	Transcript	.	.	ENSG00000008197	15581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.968)	.	deleterious(0.01)	1,1	AP2D_HUMAN	TFAP2D	HGNC	.	.	UPI00001A3A89	SNV	TFAP2D,missense_variant,p.Thr400Ile,ENST00000008391,;	1427	123	117	SUCCESS
EYS	346007	.	GRCh37	6	65707487	65707487	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	32	204	0	ENST00000370616.2:c.2247A>C	p.Lys749Asn	p.K749N	ENST00000370616		749	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS47445.1	2247	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCTTTGCA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	.	.	ENSP00000424243	.	14/43	.	.	.	.	.	.	.	.	.	14/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	tolerated(0.42)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Lys749Asn,ENST00000370616,;EYS,missense_variant,p.Lys749Asn,ENST00000370621,;EYS,missense_variant,p.Lys749Asn,ENST00000503581,;	2785	204	235	SUCCESS
SMAP1	60682	.	GRCh37	6	71546688	71546688	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	266	138	289	1	ENST00000370455.3:c.621C>T	p.Ser207=	p.S207=	ENST00000370455	NM_001281440.1	207	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS43478.1	621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCCCTAA	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF214	.	.	ENSP00000359484	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000370455	Transcript	.	.	ENSG00000112305	19651	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAP1_HUMAN	SMAP1	HGNC	.	.	UPI00000727D6	SNV	SMAP1,synonymous_variant,p.%3D,ENST00000370455,;SMAP1,synonymous_variant,p.%3D,ENST00000439432,;SMAP1,synonymous_variant,p.%3D,ENST00000316999,;SMAP1,synonymous_variant,p.%3D,ENST00000370452,;	869	290	405	SUCCESS
SYNCRIP	10492	.	GRCh37	6	86350164	86350164	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	51	86	0	ENST00000369622.3:c.267G>A		p.X89_splice	ENST00000369622	NM_001159675.1	89	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS5005.1	267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACCTGAAC	NONE	.	.	hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF131	.	.	ENSP00000358635	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000369622	Transcript	.	.	ENSG00000135316	16918	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRPQ_HUMAN	SYNCRIP	HGNC	F6UXX1_HUMAN	.	UPI000013CF84	SNV	SYNCRIP,synonymous_variant,p.%3D,ENST00000355238,;SYNCRIP,synonymous_variant,p.%3D,ENST00000444272,;SYNCRIP,synonymous_variant,p.%3D,ENST00000369622,;	768	86	88	SUCCESS
ZNF292	23036	.	GRCh37	6	87966812	87966812	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	27	57	0	ENST00000369577.3:c.3470del	p.Leu1157CysfsTer5	p.L1157Cfs*5	ENST00000369577	NM_015021.1	1155	taT/ta	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS47457.1	3465	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTTATTTTTT	NONE	.	.	hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	.	.	ENSP00000358590	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369577	Transcript	.	.	ENSG00000188994	18410	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN292_HUMAN	ZNF292	HGNC	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN	.	UPI000020D2CC	deletion	ZNF292,frameshift_variant,p.Leu1157CysfsTer5,ENST00000369577,;ZNF292,frameshift_variant,p.Leu1152CysfsTer5,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	3508	57	93	SUCCESS
MMS22L	253714	.	GRCh37	6	97681837	97681837	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	78	199	0	ENST00000275053.4:c.1202A>G	p.Gln401Arg	p.Q401R	ENST00000275053	NM_198468.2	401	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS5039.1	1202	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATTGTTCT	NONE	.	.	Pfam_domain:PF14910	.	.	ENSP00000275053	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000275053	Transcript	.	.	ENSG00000146263	21475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.979)	.	deleterious(0)	.	MMS22_HUMAN	MMS22L	HGNC	H9KVD8_HUMAN	.	UPI00003673C9	SNV	MMS22L,missense_variant,p.Gln401Arg,ENST00000275053,;MMS22L,missense_variant,p.Gln289Arg,ENST00000510018,;MMS22L,intron_variant,,ENST00000369251,;MMS22L,3_prime_UTR_variant,,ENST00000509383,;	1468	199	190	SUCCESS
SH2B2	10603	.	GRCh37	7	101944137	101944137	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	58	0	ENST00000536178.1:c.432C>T	p.Leu144=	p.L144=	ENST00000536178		144	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	.	432	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCGCGGA	NONE	.	.	hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF4	.	.	ENSP00000440273	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000536178	Transcript	.	.	ENSG00000160999	17381	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SH2B2	HGNC	F5GY53_HUMAN,C9JK89_HUMAN	.	UPI0002064F59	SNV	SH2B2,synonymous_variant,p.%3D,ENST00000536178,;SH2B2,synonymous_variant,p.%3D,ENST00000306803,;SH2B2,synonymous_variant,p.%3D,ENST00000444095,;	477	58	70	SUCCESS
PRKAR2B	5577	.	GRCh37	7	106685627	106685627	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs368313660	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	36	77	0	ENST00000265717.4:c.275A>C	p.Glu92Ala	p.E92A	ENST00000265717	NM_002736.2	92	gAg/gCg	0	C:0.0003	C:0.0008	.	C:0	.	C	E/A	protein_coding	YES	CCDS5740.1	275	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGAGGCGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121,PIRSF_domain:PIRSF000548	C:0	C:0	ENSP00000265717	C:0	1/11	.	.	.	.	.	.	.	.	rs368313660	1/11	PASS	ENST00000265717	Transcript	.	C:0.0002	ENSG00000005249	9392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	C:0	tolerated(0.1)	.	KAP3_HUMAN	PRKAR2B	HGNC	Q75MP1_HUMAN,O60380_HUMAN,A3R6R8_HUMAN	.	UPI000013D669	SNV	PRKAR2B,missense_variant,p.Glu92Ala,ENST00000265717,;	534	77	100	SUCCESS
HBP1	26959	.	GRCh37	7	106840668	106840668	+	synonymous_variant	Silent	SNP	C	C	T	rs538604670	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	44	127	0	ENST00000222574.4:c.1449C>T	p.Tyr483=	p.Y483=	ENST00000222574	NM_012257.3	483	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS5741.1	1449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTACACATT	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50118,hmmpanther:PTHR15499:SF2,hmmpanther:PTHR15499,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000222574	.	10/11	.	.	.	.	.	.	.	.	rs538604670	10/11	PASS	ENST00000222574	Transcript	.	.	ENSG00000105856	23200	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBP1_HUMAN	HBP1	HGNC	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN	.	UPI000006DC04	SNV	HBP1,synonymous_variant,p.%3D,ENST00000468410,;HBP1,synonymous_variant,p.%3D,ENST00000607681,;HBP1,synonymous_variant,p.%3D,ENST00000222574,;HBP1,synonymous_variant,p.%3D,ENST00000485846,;COG5,downstream_gene_variant,,ENST00000347053,;COG5,downstream_gene_variant,,ENST00000297135,;HBP1,downstream_gene_variant,,ENST00000498408,;HBP1,non_coding_transcript_exon_variant,,ENST00000461963,;HBP1,3_prime_UTR_variant,,ENST00000463790,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;HBP1,downstream_gene_variant,,ENST00000483809,;	1635	127	188	SUCCESS
HYAL4	23553	.	GRCh37	7	123509038	123509038	+	synonymous_variant	Silent	SNP	C	C	T	rs767709879	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	12	119	0	ENST00000223026.4:c.711C>T	p.Cys237=	p.C237=	ENST00000223026	NM_012269.2	237	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS5789.1	711	RADIA|MUTECT|MUSE|VARSCANS	.	TCATGCCCAGA	NONE	.	.	Superfamily_domains:SSF51445,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,Pfam_domain:PF01630,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7	.	.	ENSP00000223026	.	3/5	.	.	.	.	.	.	.	.	rs767709879	3/5	PASS	ENST00000223026	Transcript	.	.	ENSG00000106302	5323	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HYAL4_HUMAN	HYAL4	HGNC	C9JU18_HUMAN,C9J6F9_HUMAN	.	UPI000006F62B	SNV	HYAL4,synonymous_variant,p.%3D,ENST00000223026,;HYAL4,synonymous_variant,p.%3D,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,downstream_gene_variant,,ENST00000489978,;HYAL4,synonymous_variant,p.%3D,ENST00000483878,;	1349	119	108	SUCCESS
SLC35B4	84912	.	GRCh37	7	133979689	133979689	+	synonymous_variant	Silent	SNP	G	G	A	rs750676303	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	30	110	0	ENST00000378509.4:c.892C>T	p.Leu298=	p.L298=	ENST00000378509	NM_032826.4	298	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS34756.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGCCAGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10778:SF4,hmmpanther:PTHR10778,Pfam_domain:PF08449	.	.	ENSP00000367770	.	10/10	.	.	.	.	.	.	.	.	rs750676303	10/10	PASS	ENST00000378509	Transcript	.	.	ENSG00000205060	20584	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35B4_HUMAN	SLC35B4	HGNC	.	.	UPI00000377B5	SNV	SLC35B4,synonymous_variant,p.%3D,ENST00000378509,;SLC35B4,non_coding_transcript_exon_variant,,ENST00000466599,;SLC35B4,3_prime_UTR_variant,,ENST00000416907,;SLC35B4,downstream_gene_variant,,ENST00000470969,;	1192	110	112	SUCCESS
MICALL2	79778	.	GRCh37	7	1487299	1487299	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	152	44	106	0	ENST00000297508.7:c.437del	p.Pro146GlnfsTer107	p.P146Qfs*107	ENST00000297508	NM_182924.3	146	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS5324.1	437	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGCTGGGGCG	NONE	.	.	hmmpanther:PTHR25069:SF96,hmmpanther:PTHR25069	.	.	ENSP00000297508	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000297508	Transcript	.	.	ENSG00000164877	29672	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MILK2_HUMAN	MICALL2	HGNC	.	.	UPI00000742E0	deletion	MICALL2,frameshift_variant,p.Pro146GlnfsTer107,ENST00000297508,;MICALL2,intron_variant,,ENST00000405088,;MICALL2,frameshift_variant,p.Pro104GlnfsTer107,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000490608,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000482839,;	613	106	196	SUCCESS
KCNH2	3757	.	GRCh37	7	150642530	150642530	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781369850	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	70	180	1	ENST00000262186.5:c.3403C>T	p.Arg1135Cys	p.R1135C	ENST00000262186	NM_000238.3	1135	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5910.1	3403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGTCGTG	NONE	.	.	.	.	.	ENSP00000262186	.	15/15	.	.	.	.	.	.	.	.	rs781369850	15/15	PASS	ENST00000262186	Transcript	.	.	ENSG00000055118	6251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated_low_confidence(0.05)	.	KCNH2_HUMAN	KCNH2	HGNC	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN	.	UPI0000062255	SNV	KCNH2,missense_variant,p.Arg1135Cys,ENST00000262186,;KCNH2,missense_variant,p.Arg795Cys,ENST00000330883,;KCNH2,missense_variant,p.Arg1039Cys,ENST00000392968,;KCNH2,downstream_gene_variant,,ENST00000430723,;KCNH2,downstream_gene_variant,,ENST00000532957,;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000461280,;	3805	181	216	SUCCESS
ESYT2	57488	.	GRCh37	7	158536382	158536382	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	6	66	0	ENST00000251527.5:c.1726-13C>A		p.*576*	ENST00000251527	NM_020728.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34791.1	.	MUTECT|MUSE|VARSCANS	.	ACACAGGGTGG	NONE	.	.	.	.	.	ENSP00000251527	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251527	Transcript	.	.	ENSG00000117868	22211	.	.	MODIFIER	15/21	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ESYT2_HUMAN	ESYT2	HGNC	.	.	UPI00002339BD	SNV	ESYT2,synonymous_variant,p.%3D,ENST00000435514,;ESYT2,intron_variant,,ENST00000251527,;ESYT2,intron_variant,,ENST00000275418,;	.	66	64	SUCCESS
CDCA7L	55536	.	GRCh37	7	21985488	21985488	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs559998129	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	9	148	0	ENST00000406877.3:c.-66G>C		p.*22*	ENST00000406877	NM_018719.4			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS5374.1	.	MUTECT|MUSE	.	CGGCCCGGCGC	NONE	by1000G	.	.	G:0	.	ENSP00000383986	G:0	1/10	.	.	.	.	.	.	.	.	rs559998129	1/10	PASS	ENST00000406877	Transcript	.	G:0.0002	ENSG00000164649	30777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0.001	.	.	CDA7L_HUMAN	CDCA7L	HGNC	C9JFL7_HUMAN	.	UPI000000D840	SNV	CDCA7L,5_prime_UTR_variant,,ENST00000457951,;CDCA7L,5_prime_UTR_variant,,ENST00000373934,;CDCA7L,5_prime_UTR_variant,,ENST00000356195,;CDCA7L,5_prime_UTR_variant,,ENST00000447180,;CDCA7L,5_prime_UTR_variant,,ENST00000406877,;CDCA7L,upstream_gene_variant,,ENST00000435031,;	215	148	178	SUCCESS
OSBPL3	26031	.	GRCh37	7	24859857	24859857	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	332	147	394	1	ENST00000313367.2:c.1885G>A	p.Val629Ile	p.V629I	ENST00000313367	NM_015550.2	629	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS5390.1	1885	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGACCTGAT	NONE	.	.	Superfamily_domains:0051579,Pfam_domain:PF01237,PROSITE_patterns:PS01013,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15	.	.	ENSP00000315410	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000313367	Transcript	.	.	ENSG00000070882	16370	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	OSBL3_HUMAN	OSBPL3	HGNC	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN	.	UPI0000001244	SNV	OSBPL3,missense_variant,p.Val562Ile,ENST00000431825,;OSBPL3,missense_variant,p.Val593Ile,ENST00000396429,;OSBPL3,missense_variant,p.Val598Ile,ENST00000352860,;OSBPL3,missense_variant,p.Val562Ile,ENST00000409069,;OSBPL3,missense_variant,p.Val593Ile,ENST00000353930,;OSBPL3,missense_variant,p.Val629Ile,ENST00000313367,;OSBPL3,missense_variant,p.Val598Ile,ENST00000396431,;OSBPL3,splice_region_variant,,ENST00000409555,;OSBPL3,splice_region_variant,,ENST00000409452,;OSBPL3,splice_region_variant,,ENST00000409863,;OSBPL3,splice_region_variant,,ENST00000409759,;	2337	395	480	SUCCESS
ADCYAP1R1	117	.	GRCh37	7	31123783	31123783	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1342197038	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	24	117	0	ENST00000304166.4:c.356C>T	p.Thr119Met	p.T119M	ENST00000304166	NM_001199636.1	119	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS56480.1	356	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCACGGAGG	NONE	.	.	PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418	.	.	ENSP00000379514	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000396211	Transcript	.	.	ENSG00000078549	242	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PACR_HUMAN	ADCYAP1R1	HGNC	Q6S991_HUMAN,Q6RKA2_HUMAN,C9JVH3_HUMAN	.	UPI0000DA58BA	SNV	ADCYAP1R1,missense_variant,p.Thr98Met,ENST00000409363,;ADCYAP1R1,missense_variant,p.Thr119Met,ENST00000409489,;ADCYAP1R1,missense_variant,p.Thr119Met,ENST00000304166,;ADCYAP1R1,missense_variant,p.Thr119Met,ENST00000396211,;ADCYAP1R1,upstream_gene_variant,,ENST00000436116,;	427	117	133	SUCCESS
SFRP4	6424	.	GRCh37	7	37954048	37954048	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	68	160	1	ENST00000436072.2:c.453G>A	p.Lys151=	p.K151=	ENST00000436072	NM_003014.3	151	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS5453.1	453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCACTTAAC	NONE	.	.	hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF7	.	.	ENSP00000410715	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000436072	Transcript	.	.	ENSG00000106483	10778	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFRP4_HUMAN	SFRP4	HGNC	.	.	UPI000004ECBF	SNV	SFRP4,synonymous_variant,p.%3D,ENST00000447200,;SFRP4,synonymous_variant,p.%3D,ENST00000436072,;EPDR1,intron_variant,,ENST00000476620,;SFRP4,upstream_gene_variant,,ENST00000478975,;	831	161	230	SUCCESS
GLI3	2737	.	GRCh37	7	42017310	42017310	+	synonymous_variant	Silent	SNP	G	G	A	rs532041527	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	45	161	0	ENST00000395925.3:c.1659C>T	p.Cys553=	p.C553=	ENST00000395925	NM_000168.5	553	tgC/tgT	0	.	A:0	.	A:0	.	A	C	protein_coding	YES	CCDS5465.1	1659	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTGCAACC	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	A:0	.	ENSP00000379258	A:0	12/15	.	.	.	.	.	.	.	.	rs532041527	12/15	PASS	ENST00000395925	Transcript	.	A:0.0004	ENSG00000106571	4319	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,synonymous_variant,p.%3D,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,non_coding_transcript_exon_variant,,ENST00000464291,;	1744	161	166	SUCCESS
CAMK2B	816	.	GRCh37	7	44279240	44279240	+	synonymous_variant	Silent	SNP	C	C	T	rs748787629	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	25	0	ENST00000395749.2:c.969G>A	p.Pro323=	p.P323=	ENST00000395749	NM_001220.4	323	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5483.1	969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCGGAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF107	.	.	ENSP00000379098	.	13/24	.	.	.	.	.	.	.	.	rs748787629	13/24	PASS	ENST00000395749	Transcript	.	.	ENSG00000058404	1461	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCC2B_HUMAN	CAMK2B	HGNC	Q75LA8_HUMAN,Q75KE9_HUMAN,D3DVK8_HUMAN,A4D2J9_HUMAN	.	UPI0000164A3E	SNV	CAMK2B,synonymous_variant,p.%3D,ENST00000433930,;CAMK2B,synonymous_variant,p.%3D,ENST00000395749,;CAMK2B,synonymous_variant,p.%3D,ENST00000502837,;CAMK2B,synonymous_variant,p.%3D,ENST00000350811,;CAMK2B,synonymous_variant,p.%3D,ENST00000440254,;CAMK2B,synonymous_variant,p.%3D,ENST00000347193,;CAMK2B,intron_variant,,ENST00000258682,;CAMK2B,intron_variant,,ENST00000353625,;CAMK2B,intron_variant,,ENST00000457475,;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000346990,;CAMK2B,intron_variant,,ENST00000358707,;CAMK2B,downstream_gene_variant,,ENST00000424197,;CAMK2B,downstream_gene_variant,,ENST00000415369,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000497584,;CAMK2B,downstream_gene_variant,,ENST00000497127,;CAMK2B,downstream_gene_variant,,ENST00000484972,;CAMK2B,downstream_gene_variant,,ENST00000495819,;CAMK2B,3_prime_UTR_variant,,ENST00000523845,;CAMK2B,intron_variant,,ENST00000353185,;	1046	25	39	SUCCESS
PKD1L1	168507	.	GRCh37	7	47925412	47925412	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	45	103	0	ENST00000289672.2:c.3077C>T	p.Ala1026Val	p.A1026V	ENST00000289672	NM_138295.3	1026	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34633.1	3077	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTGCAGAG	NONE	.	.	Pfam_domain:PF02010,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,PROSITE_profiles:PS51111	.	.	ENSP00000289672	.	18/57	.	.	.	.	.	.	.	.	.	18/57	PASS	ENST00000289672	Transcript	.	.	ENSG00000158683	18053	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.159)	.	tolerated(0.16)	.	PK1L1_HUMAN	PKD1L1	HGNC	.	.	UPI0000130FA9	SNV	PKD1L1,missense_variant,p.Ala1026Val,ENST00000289672,;HUS1,intron_variant,,ENST00000436444,;	3128	103	128	SUCCESS
TNRC18	84629	.	GRCh37	7	5427704	5427704	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs750353354	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	41	96	0	ENST00000430969.1:c.1751C>T	p.Ala584Val	p.A584V	ENST00000430969	NM_001080495.2	584	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS47534.1	1751	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGGCCGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	.	.	ENSP00000395538	.	5/30	.	.	.	.	.	.	.	.	rs750353354	5/30	PASS	ENST00000430969	Transcript	.	.	ENSG00000182095	11962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	.	.	TNC18_HUMAN	TNRC18	HGNC	H7C3U5_HUMAN,C9J9K1_HUMAN	.	UPI00016632FD	SNV	TNRC18,missense_variant,p.Ala584Val,ENST00000430969,;TNRC18,missense_variant,p.Ala584Val,ENST00000399537,;TNRC18,downstream_gene_variant,,ENST00000399434,;TNRC18,downstream_gene_variant,,ENST00000434361,;TNRC18,upstream_gene_variant,,ENST00000413081,;	2100	96	149	SUCCESS
FKBP9L	0	.	GRCh37	7	55750332	55750332	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs528844579	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	70	244	0	ENST00000455909.1:n.886G>A		p.*296*	ENST00000455909				0	.	T:0	.	T:0	.	T	.	snRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTCGTGCC	NONE	byFrequency|by1000G	3338	.	T:0	.	.	T:0	.	.	.	.	.	.	.	.	.	rs528844579	.	PASS	ENST00000517048	Transcript	.	T:0.0014	ENSG00000252857	47352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0072	.	.	.	RNU6-389P	HGNC	.	.	.	SNV	RNU6-389P,upstream_gene_variant,,ENST00000517048,;FKBP9L,non_coding_transcript_exon_variant,,ENST00000455909,;FKBP9L,non_coding_transcript_exon_variant,,ENST00000324256,;RP11-310H4.6,upstream_gene_variant,,ENST00000432235,;FKBP9L,downstream_gene_variant,,ENST00000441699,;	.	244	288	SUCCESS
BAZ1B	9031	.	GRCh37	7	72891569	72891569	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs201259773	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	32	101	0	ENST00000339594.4:c.2222C>T	p.Thr741Met	p.T741M	ENST00000339594	NM_032408.3	741	aCg/aTg	0	.	A:0	.	A:0.0014	.	A	T/M	protein_coding	YES	CCDS5549.1	2222	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGTCAGC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF60,hmmpanther:PTHR22880,Pfam_domain:PF15612	A:0	.	ENSP00000342434	A:0	7/20	.	.	.	.	.	.	.	.	rs201259773	7/20	PASS	ENST00000339594	Transcript	.	A:0.0002	ENSG00000009954	961	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.935)	A:0	deleterious(0.03)	.	BAZ1B_HUMAN	BAZ1B	HGNC	.	.	UPI0000126731	SNV	BAZ1B,missense_variant,p.Thr741Met,ENST00000404251,;BAZ1B,missense_variant,p.Thr741Met,ENST00000339594,;	2561	101	114	SUCCESS
PCLO	27445	.	GRCh37	7	82583461	82583461	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780885885	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	36	85	1	ENST00000333891.9:c.6808G>A	p.Ala2270Thr	p.A2270T	ENST00000333891	NM_033026.5	2270	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS47630.1	6808	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCCATAT	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	rs780885885	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Ala2270Thr,ENST00000333891,;PCLO,missense_variant,p.Ala2270Thr,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7146	86	90	SUCCESS
TRRAP	8295	.	GRCh37	7	98528292	98528292	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1020415712	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	30	76	0	ENST00000359863.4:c.3430C>T	p.Arg1144Cys	p.R1144C	ENST00000359863	NM_001244580.1	1144	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS59066.1	3430	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCGCCTG	NONE	.	.	hmmpanther:PTHR11139:SF1,hmmpanther:PTHR11139,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	.	.	ENSP00000352925	.	25/72	.	.	.	.	.	.	.	.	.	25/72	PASS	ENST00000359863	Transcript	.	.	ENSG00000196367	12347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	.	.	TRRAP_HUMAN	TRRAP	HGNC	C9K0N1_HUMAN	.	UPI00004575B4	SNV	TRRAP,missense_variant,p.Arg1144Cys,ENST00000355540,;TRRAP,missense_variant,p.Arg1143Cys,ENST00000446306,;TRRAP,missense_variant,p.Arg859Cys,ENST00000456197,;TRRAP,missense_variant,p.Arg1144Cys,ENST00000359863,;	3639	76	81	SUCCESS
ZNF394	84124	.	GRCh37	7	99092121	99092121	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	42	0	ENST00000337673.6:c.717T>C	p.His239=	p.H239=	ENST00000337673	NM_032164.2	239	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS5666.1	717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCATGGGT	NONE	.	.	hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3	.	.	ENSP00000337363	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337673	Transcript	.	.	ENSG00000160908	18832	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN394_HUMAN	ZNF394	HGNC	.	.	UPI000006F498	SNV	ZNF394,synonymous_variant,p.%3D,ENST00000337673,;ZNF394,3_prime_UTR_variant,,ENST00000426306,;ZNF789,intron_variant,,ENST00000493485,;ZNF394,intron_variant,,ENST00000462024,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,downstream_gene_variant,,ENST00000394177,;ZNF394,downstream_gene_variant,,ENST00000485576,;ZNF394,downstream_gene_variant,,ENST00000464401,;ZNF394,downstream_gene_variant,,ENST00000481881,;	921	42	60	SUCCESS
RGS22	26166	.	GRCh37	8	101118218	101118218	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	21	0	ENST00000360863.6:c.-69C>T		p.*23*	ENST00000360863	NM_015668.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43758.1	.	MUTECT|MUSE|VARSCANS	.	GCGCGGGTCAG	NONE	.	.	.	.	.	ENSP00000354109	.	1/28	.	.	.	.	.	.	.	.	.	1/28	PASS	ENST00000360863	Transcript	.	.	ENSG00000132554	24499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGS22_HUMAN	RGS22	HGNC	E5RHE4_HUMAN,E5RFV6_HUMAN	.	UPI0000E5AF25	SNV	RGS22,5_prime_UTR_variant,,ENST00000360863,;RGS22,intron_variant,,ENST00000519408,;RGS22,intron_variant,,ENST00000520117,;RGS22,intron_variant,,ENST00000517828,;RGS22,upstream_gene_variant,,ENST00000519092,;RGS22,upstream_gene_variant,,ENST00000523437,;RGS22,upstream_gene_variant,,ENST00000523287,;RGS22,upstream_gene_variant,,ENST00000523600,;RGS22,upstream_gene_variant,,ENST00000522064,;RGS22,5_prime_UTR_variant,,ENST00000519725,;RGS22,non_coding_transcript_exon_variant,,ENST00000518719,;	127	21	22	SUCCESS
ZHX2	22882	.	GRCh37	8	123965549	123965549	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1382488405	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	14	99	0	ENST00000314393.4:c.1799A>G	p.Lys600Arg	p.K600R	ENST00000314393	NM_014943.3	600	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6336.1	1799	MUTECT|MUSE|VARSCANS	.	CAAAAAAGGCC	NONE	.	.	hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5	.	.	ENSP00000314709	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000314393	Transcript	.	.	ENSG00000178764	18513	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	tolerated(0.34)	.	ZHX2_HUMAN	ZHX2	HGNC	H0YKA3_HUMAN	.	UPI0000073CCB	SNV	ZHX2,missense_variant,p.Lys600Arg,ENST00000314393,;ZHX2,downstream_gene_variant,,ENST00000534247,;	2634	99	141	SUCCESS
KHDRBS3	10656	.	GRCh37	8	136470061	136470062	+	5_prime_UTR_variant	5'UTR	INS	-	-	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	8	64	0	ENST00000355849.5:c.-43dup		p.*15*	ENST00000355849	NM_006558.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6374.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGCCGCCCCC	NONE	.	.	.	.	.	ENSP00000348108	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000355849	Transcript	.	.	ENSG00000131773	18117	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KHDR3_HUMAN	KHDRBS3	HGNC	.	.	UPI0000073E6F	insertion	KHDRBS3,5_prime_UTR_variant,,ENST00000355849,;KHDRBS3,upstream_gene_variant,,ENST00000517394,;KHDRBS3,upstream_gene_variant,,ENST00000520981,;KHDRBS3,upstream_gene_variant,,ENST00000524199,;RP11-343P9.1,upstream_gene_variant,,ENST00000518674,;	362-363	64	94	SUCCESS
BAI1	0	.	GRCh37	8	143563066	143563066	+	synonymous_variant	Silent	SNP	C	C	T	rs376677183	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	46	0	ENST00000323289.5:c.2124C>T	p.Asp708=	p.D708=	ENST00000323289	NM_001702.2	708	gaC/gaT	0	T:0	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS64985.1	2124	MUTECT|MUSE	.	GGGGACGTACA	NONE	byCluster|by1000G	.	Pfam_domain:PF12003,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39	T:0.001	T:0.0001	ENSP00000430945	T:0	11/31	.	.	.	.	.	.	.	.	rs376677183	11/31	PASS	ENST00000517894	Transcript	.	T:0.0002	ENSG00000181790	943	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,synonymous_variant,p.%3D,ENST00000323289,;BAI1,synonymous_variant,p.%3D,ENST00000517894,;BAI1,synonymous_variant,p.%3D,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518820,;	3018	46	72	SUCCESS
BAI1	0	.	GRCh37	8	143599549	143599549	+	synonymous_variant	Silent	SNP	C	C	T	rs770399870	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	12	57	0	ENST00000323289.5:c.2868C>T	p.Gly956=	p.G956=	ENST00000323289	NM_001702.2	956	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS64985.1	2868	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCGTGTC	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00249,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,PROSITE_profiles:PS50261	.	.	ENSP00000430945	.	19/31	.	.	.	.	.	.	.	.	rs770399870,COSM1455254	19/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	LOW	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	.	.	0,1	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,synonymous_variant,p.%3D,ENST00000323289,;BAI1,synonymous_variant,p.%3D,ENST00000517894,;BAI1,synonymous_variant,p.%3D,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518820,;	3762	57	89	SUCCESS
ZNF696	79943	.	GRCh37	8	144378780	144378780	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	42	0	ENST00000330143.3:c.935G>A	p.Arg312His	p.R312H	ENST00000330143	NM_030895.2	312	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6399.1	935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCGCCGCA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF110,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000328515	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000330143	Transcript	.	.	ENSG00000185730	25872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.151)	.	tolerated(0.08)	.	ZN696_HUMAN	ZNF696	HGNC	E5RG39_HUMAN,E5RFI7_HUMAN	.	UPI000013E0BC	SNV	ZNF696,missense_variant,p.Arg312His,ENST00000330143,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;	1344	42	48	SUCCESS
NAPRT1	0	.	GRCh37	8	144657636	144657636	+	synonymous_variant	Silent	SNP	C	C	T	rs143442304	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	58	185	0	ENST00000449291.2:c.1248G>A	p.Thr416=	p.T416=	ENST00000449291		416	acG/acA	0	T:0	.	.	.	.	T	T	protein_coding	YES	CCDS6403.2	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACGTCTG	NONE	byCluster	.	hmmpanther:PTHR11098,hmmpanther:PTHR11098:SF1,Gene3D:3.20.140.10,Pfam_domain:PF04095,TIGRFAM_domain:TIGR01513,PIRSF_domain:PIRSF000484,Superfamily_domains:SSF51690	.	T:0.0001	ENSP00000401508	.	10/13	.	.	.	.	.	.	.	.	rs143442304	10/13	PASS	ENST00000449291	Transcript	.	.	ENSG00000147813	30450	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNCB_HUMAN	NAPRT1	HGNC	.	.	UPI000058EC33	SNV	NAPRT1,synonymous_variant,p.%3D,ENST00000435154,;NAPRT1,synonymous_variant,p.%3D,ENST00000449291,;NAPRT1,synonymous_variant,p.%3D,ENST00000276844,;NAPRT1,synonymous_variant,p.%3D,ENST00000340490,;NAPRT1,synonymous_variant,p.%3D,ENST00000426292,;EEF1D,downstream_gene_variant,,ENST00000423316,;EEF1D,downstream_gene_variant,,ENST00000528610,;EEF1D,downstream_gene_variant,,ENST00000530109,;EEF1D,downstream_gene_variant,,ENST00000529272,;EEF1D,downstream_gene_variant,,ENST00000534380,;EEF1D,downstream_gene_variant,,ENST00000419152,;EEF1D,downstream_gene_variant,,ENST00000526838,;MROH6,upstream_gene_variant,,ENST00000398882,;EEF1D,downstream_gene_variant,,ENST00000532400,;EEF1D,downstream_gene_variant,,ENST00000524624,;EEF1D,downstream_gene_variant,,ENST00000529576,;EEF1D,downstream_gene_variant,,ENST00000528382,;EEF1D,downstream_gene_variant,,ENST00000532741,;EEF1D,downstream_gene_variant,,ENST00000395119,;EEF1D,downstream_gene_variant,,ENST00000317198,;MROH6,upstream_gene_variant,,ENST00000529971,;EEF1D,downstream_gene_variant,,ENST00000534377,;EEF1D,downstream_gene_variant,,ENST00000531621,;EEF1D,downstream_gene_variant,,ENST00000442189,;RP11-661A12.9,intron_variant,,ENST00000531730,;RP11-661A12.7,upstream_gene_variant,,ENST00000529247,;NAPRT1,non_coding_transcript_exon_variant,,ENST00000460623,;NAPRT1,3_prime_UTR_variant,,ENST00000525583,;NAPRT1,non_coding_transcript_exon_variant,,ENST00000464332,;NAPRT1,upstream_gene_variant,,ENST00000498076,;NAPRT1,downstream_gene_variant,,ENST00000462059,;NAPRT1,upstream_gene_variant,,ENST00000529179,;NAPRT1,downstream_gene_variant,,ENST00000491904,;NAPRT1,downstream_gene_variant,,ENST00000480946,;EEF1D,downstream_gene_variant,,ENST00000526786,;NAPRT1,downstream_gene_variant,,ENST00000532645,;EEF1D,downstream_gene_variant,,ENST00000529007,;EEF1D,downstream_gene_variant,,ENST00000527741,;EEF1D,downstream_gene_variant,,ENST00000524397,;EEF1D,downstream_gene_variant,,ENST00000533833,;NAPRT1,downstream_gene_variant,,ENST00000488096,;	1543	185	280	SUCCESS
PARP10	84875	.	GRCh37	8	145058580	145058580	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	52	0	ENST00000313028.7:c.1478C>A	p.Ser493Tyr	p.S493Y	ENST00000313028	NM_032789.3	493	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS34960.1	1478	MUTECT|MUSE	.	GGCAGGAAGCC	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF55	.	.	ENSP00000325618	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000313028	Transcript	.	.	ENSG00000178685	25895	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.496)	.	deleterious(0)	.	PAR10_HUMAN	PARP10	HGNC	E9PSG8_HUMAN,E9PSE7_HUMAN,E9PQQ6_HUMAN,E9PPV8_HUMAN,E9PPU2_HUMAN,E9PM86_HUMAN,E9PLE8_HUMAN,E9PJI2_HUMAN,E9PIA6_HUMAN	.	UPI0000251FAB	SNV	PARP10,missense_variant,p.Ser493Tyr,ENST00000313028,;PARP10,missense_variant,p.Ser493Tyr,ENST00000524918,;PARP10,missense_variant,p.Ser505Tyr,ENST00000525773,;PARP10,downstream_gene_variant,,ENST00000528914,;PARP10,downstream_gene_variant,,ENST00000525879,;PARP10,downstream_gene_variant,,ENST00000529842,;PARP10,downstream_gene_variant,,ENST00000529311,;PARP10,downstream_gene_variant,,ENST00000528625,;PARP10,downstream_gene_variant,,ENST00000532311,;PARP10,downstream_gene_variant,,ENST00000531537,;PARP10,downstream_gene_variant,,ENST00000313059,;PARP10,downstream_gene_variant,,ENST00000528136,;PARP10,downstream_gene_variant,,ENST00000531707,;PARP10,downstream_gene_variant,,ENST00000525486,;PARP10,downstream_gene_variant,,ENST00000530478,;PARP10,downstream_gene_variant,,ENST00000534737,;PARP10,downstream_gene_variant,,ENST00000532660,;PARP10,downstream_gene_variant,,ENST00000533665,;PARP10,missense_variant,p.Ser493Tyr,ENST00000527262,;PARP10,non_coding_transcript_exon_variant,,ENST00000528963,;PARP10,upstream_gene_variant,,ENST00000526007,;PARP10,downstream_gene_variant,,ENST00000526985,;PARP10,downstream_gene_variant,,ENST00000528580,;	1573	52	86	SUCCESS
SPATC1	375686	.	GRCh37	8	145095783	145095784	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs576544596	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	102	23	70	0	ENST00000377470.3:c.1087dup	p.His363ProfsTer8	p.H363Pfs*8	ENST00000377470	NM_198572.2	361	gcc/gCcc	0	.	.	.	.	.	C	A/AX	protein_coding	YES	CCDS6413.2	1081-1082	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGTGCCCCC	NONE	.	.	hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16	.	.	ENSP00000366690	.	3/5	.	.	.	.	.	.	.	.	rs782159696	3/5	PASS	ENST00000377470	Transcript	.	.	ENSG00000186583	30510	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPERI_HUMAN	SPATC1	HGNC	.	.	UPI00001D8243	insertion	SPATC1,frameshift_variant,p.His363ProfsTer8,ENST00000447830,;SPATC1,frameshift_variant,p.His363ProfsTer8,ENST00000377470,;	1183-1184	70	125	SUCCESS
PPP1R16A	84988	.	GRCh37	8	145724317	145724317	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs753682349	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	53	0	ENST00000292539.4:c.349C>T	p.Arg117Ter	p.R117*	ENST00000292539		117	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS6429.1	349	MUTECT|MUSE	.	ATTTCCGAGAG	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24142,Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF038159,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000292539	.	4/11	.	.	.	.	.	.	.	.	rs753682349,COSM1455665	4/11	PASS	ENST00000292539	Transcript	.	.	ENSG00000160972	14941	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	PP16A_HUMAN	PPP1R16A	HGNC	.	.	UPI0000132057	SNV	PPP1R16A,stop_gained,p.Arg117Ter,ENST00000435887,;PPP1R16A,stop_gained,p.Arg117Ter,ENST00000292539,;GPT,upstream_gene_variant,,ENST00000528431,;PPP1R16A,upstream_gene_variant,,ENST00000528430,;CTD-2517M22.14,non_coding_transcript_exon_variant,,ENST00000527086,;CTD-2517M22.14,non_coding_transcript_exon_variant,,ENST00000532766,;PPP1R16A,downstream_gene_variant,,ENST00000529283,;PPP1R16A,downstream_gene_variant,,ENST00000533829,;PPP1R16A,downstream_gene_variant,,ENST00000533088,;PPP1R16A,downstream_gene_variant,,ENST00000529009,;CTD-2517M22.14,non_coding_transcript_exon_variant,,ENST00000528207,;PPP1R16A,non_coding_transcript_exon_variant,,ENST00000526183,;CTD-2517M14.5,non_coding_transcript_exon_variant,,ENST00000569326,;PPP1R16A,non_coding_transcript_exon_variant,,ENST00000532806,;PPP1R16A,upstream_gene_variant,,ENST00000526564,;CTD-2517M22.14,downstream_gene_variant,,ENST00000528690,;GPT,upstream_gene_variant,,ENST00000527165,;	1266	53	76	SUCCESS
PPP1R16A	84988	.	GRCh37	8	145727136	145727136	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	14	127	0	ENST00000292539.4:c.1437T>C	p.Pro479=	p.P479=	ENST00000292539		479	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS6429.1	1437	MUTECT|MUSE|VARSCANS	.	AGCCCTGAGAC	NONE	.	.	hmmpanther:PTHR24142,PIRSF_domain:PIRSF038159	.	.	ENSP00000292539	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000292539	Transcript	.	.	ENSG00000160972	14941	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PP16A_HUMAN	PPP1R16A	HGNC	.	.	UPI0000132057	SNV	PPP1R16A,synonymous_variant,p.%3D,ENST00000528430,;PPP1R16A,synonymous_variant,p.%3D,ENST00000435887,;PPP1R16A,synonymous_variant,p.%3D,ENST00000292539,;GPT,upstream_gene_variant,,ENST00000528431,;GPT,upstream_gene_variant,,ENST00000394955,;CTD-2517M22.14,intron_variant,,ENST00000527086,;CTD-2517M22.14,upstream_gene_variant,,ENST00000532766,;PPP1R16A,downstream_gene_variant,,ENST00000533829,;PPP1R16A,downstream_gene_variant,,ENST00000529009,;PPP1R16A,non_coding_transcript_exon_variant,,ENST00000526183,;CTD-2517M22.14,intron_variant,,ENST00000528690,;CTD-2517M22.14,upstream_gene_variant,,ENST00000528207,;GPT,upstream_gene_variant,,ENST00000527165,;CTD-2517M14.5,upstream_gene_variant,,ENST00000569326,;PPP1R16A,downstream_gene_variant,,ENST00000532806,;GPT,upstream_gene_variant,,ENST00000354769,;PPP1R16A,downstream_gene_variant,,ENST00000526564,;GPT,upstream_gene_variant,,ENST00000531330,;GPT,upstream_gene_variant,,ENST00000534702,;GPT,upstream_gene_variant,,ENST00000527961,;	2354	127	162	SUCCESS
DOK2	9046	.	GRCh37	8	21767272	21767272	+	synonymous_variant	Silent	SNP	C	C	T	rs779549207	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	49	0	ENST00000276420.4:c.789G>A	p.Ser263=	p.S263=	ENST00000276420	NM_003974.2	263	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6016.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGACGC	NONE	.	.	hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF14,Superfamily_domains:SSF50729	.	.	ENSP00000276420	.	5/5	.	.	.	.	.	.	.	.	rs779549207	5/5	PASS	ENST00000276420	Transcript	.	.	ENSG00000147443	2991	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOK2_HUMAN	DOK2	HGNC	G3V1Q1_HUMAN,E5RIG9_HUMAN	.	UPI000006F1DB	SNV	DOK2,synonymous_variant,p.%3D,ENST00000276420,;DOK2,synonymous_variant,p.%3D,ENST00000544659,;DOK2,synonymous_variant,p.%3D,ENST00000518197,;DOK2,downstream_gene_variant,,ENST00000523932,;DOK2,3_prime_UTR_variant,,ENST00000517422,;DOK2,non_coding_transcript_exon_variant,,ENST00000524001,;DOK2,downstream_gene_variant,,ENST00000522011,;	1048	49	27	SUCCESS
FAM160B2	0	.	GRCh37	8	21958199	21958199	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs774274007	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	82	0	ENST00000289921.7:c.1436G>A	p.Arg479His	p.R479H	ENST00000289921	NM_022749.5	479	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS6021.2	1436	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGCCGCCCTT	NONE	byFrequency	.	hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF7	.	.	ENSP00000289921	.	11/17	.	.	.	.	.	.	.	.	rs774274007,COSM3898823,COSM3898824	11/17	PASS	ENST00000289921	Transcript	.	.	ENSG00000158863	16492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1,1	.	.	probably_damaging(0.968)	.	deleterious(0)	0,1,1	F16B2_HUMAN	FAM160B2	HGNC	.	.	UPI00006C5119	SNV	FAM160B2,missense_variant,p.Arg479His,ENST00000289921,;FAM160B2,missense_variant,p.Arg479His,ENST00000450006,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000491733,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000462914,;FAM160B2,upstream_gene_variant,,ENST00000523633,;FAM160B2,downstream_gene_variant,,ENST00000498344,;FAM160B2,upstream_gene_variant,,ENST00000496599,;FAM160B2,downstream_gene_variant,,ENST00000427751,;FAM160B2,downstream_gene_variant,,ENST00000488968,;FAM160B2,downstream_gene_variant,,ENST00000464226,;FAM160B2,upstream_gene_variant,,ENST00000477614,;FAM160B2,downstream_gene_variant,,ENST00000474579,;AC091171.1,upstream_gene_variant,,ENST00000436711,;	1482	83	58	SUCCESS
HR	55806	.	GRCh37	8	21976493	21976493	+	synonymous_variant	Silent	SNP	G	G	A	rs371739727	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	44	165	1	ENST00000381418.4:c.3183C>T	p.Asp1061=	p.D1061=	ENST00000381418	NM_005144.4	1061	gaC/gaT	0	A:0	.	.	.	.	A	D	protein_coding	YES	CCDS6022.1	3183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGTCCTG	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51184,hmmpanther:PTHR12549:SF4,hmmpanther:PTHR12549,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197	.	A:0.0001	ENSP00000370826	.	16/19	.	.	.	.	.	.	.	.	rs371739727,COSM1098010	16/19	PASS	ENST00000381418	Transcript	1	.	ENSG00000168453	5172	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	HAIR_HUMAN	HR	HGNC	E5RK80_HUMAN	.	UPI000013EB0B	SNV	HR,synonymous_variant,p.%3D,ENST00000381418,;HR,synonymous_variant,p.%3D,ENST00000312841,;HR,downstream_gene_variant,,ENST00000517699,;HR,non_coding_transcript_exon_variant,,ENST00000522039,;HR,downstream_gene_variant,,ENST00000518461,;HR,upstream_gene_variant,,ENST00000522016,;	4664	166	117	SUCCESS
TTI2	80185	.	GRCh37	8	33357912	33357912	+	synonymous_variant	Silent	SNP	G	G	A	rs145192530	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	39	79	0	ENST00000360742.5:c.1356C>T	p.Ser452=	p.S452=	ENST00000360742	NM_025115.3	452	agC/agT	0	A:0.0002	.	.	.	.	A	S	protein_coding	YES	CCDS6090.1	1356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCGCTCTT	NONE	byCluster	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1	.	A:0.0001	ENSP00000411169	.	7/8	.	.	.	.	.	.	.	.	rs145192530	7/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,synonymous_variant,p.%3D,ENST00000431156,;TTI2,synonymous_variant,p.%3D,ENST00000520636,;TTI2,synonymous_variant,p.%3D,ENST00000360742,;MAK16,3_prime_UTR_variant,,ENST00000360128,;TTI2,non_coding_transcript_exon_variant,,ENST00000519356,;MAK16,downstream_gene_variant,,ENST00000518389,;	1975	79	80	SUCCESS
ANK1	286	.	GRCh37	8	41530301	41530301	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1255242079	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	903	264	907	1	ENST00000347528.4:c.4667A>G	p.Glu1556Gly	p.E1556G	ENST00000347528	NM_020477.2	1556	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS47849.1	4790	RADIA|MUTECT|MUSE|VARSCANS	.	CATGCTCCGTG	NONE	.	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	.	.	ENSP00000265709	.	39/43	.	.	.	.	.	.	.	.	.	39/43	PASS	ENST00000265709	Transcript	1	.	ENSG00000029534	492	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.575)	.	deleterious_low_confidence(0)	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,missense_variant,p.Glu1597Gly,ENST00000265709,;ANK1,missense_variant,p.Glu1556Gly,ENST00000289734,;ANK1,missense_variant,p.Glu1556Gly,ENST00000347528,;ANK1,missense_variant,p.Glu1556Gly,ENST00000352337,;ANK1,missense_variant,p.Glu1556Gly,ENST00000379758,;ANK1,missense_variant,p.Glu1556Gly,ENST00000396942,;ANK1,missense_variant,p.Glu1556Gly,ENST00000396945,;ANK1,intron_variant,,ENST00000520299,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,intron_variant,,ENST00000518061,;	5072	909	1168	SUCCESS
IKBKB	3551	.	GRCh37	8	42178286	42178286	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	10	75	0	ENST00000520810.1:c.1612A>G	p.Met538Val	p.M538V	ENST00000520810	NM_001556.2	538	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS6128.1	1612	RADIA|MUTECT|MUSE|VARSCANS	.	GGATGATGGCT	NONE	.	.	hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969	.	.	ENSP00000430684	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000520810	Transcript	1	.	ENSG00000104365	5960	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.977)	.	tolerated(0.21)	.	IKKB_HUMAN	IKBKB	HGNC	E5RGW5_HUMAN	.	UPI0000033729	SNV	IKBKB,missense_variant,p.Met538Val,ENST00000520810,;IKBKB,missense_variant,p.Met536Val,ENST00000520835,;IKBKB,missense_variant,p.Met479Val,ENST00000416505,;IKBKB,missense_variant,p.Met315Val,ENST00000379708,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,downstream_gene_variant,,ENST00000517502,;IKBKB,downstream_gene_variant,,ENST00000522785,;IKBKB,upstream_gene_variant,,ENST00000521225,;IKBKB,missense_variant,p.Asp517Gly,ENST00000520655,;IKBKB,missense_variant,p.Asp517Gly,ENST00000521661,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;IKBKB,3_prime_UTR_variant,,ENST00000518679,;IKBKB,3_prime_UTR_variant,,ENST00000523517,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,non_coding_transcript_exon_variant,,ENST00000520201,;IKBKB,non_coding_transcript_exon_variant,,ENST00000519938,;IKBKB,downstream_gene_variant,,ENST00000517917,;IKBKB,downstream_gene_variant,,ENST00000518647,;IKBKB,downstream_gene_variant,,ENST00000522545,;IKBKB,upstream_gene_variant,,ENST00000523018,;IKBKB,upstream_gene_variant,,ENST00000522103,;IKBKB,upstream_gene_variant,,ENST00000523599,;IKBKB,upstream_gene_variant,,ENST00000522133,;	1798	75	91	SUCCESS
SNAI2	6591	.	GRCh37	8	49832741	49832741	+	synonymous_variant	Silent	SNP	T	T	C	rs1413333110	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	41	152	0	ENST00000020945.1:c.339A>G	p.Leu113=	p.L113=	ENST00000020945	NM_003068.4	113	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS6146.1	339	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGTAGTCT	NONE	.	.	hmmpanther:PTHR11389:SF400,hmmpanther:PTHR11389	.	.	ENSP00000380034	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000396822	Transcript	1	.	ENSG00000019549	11094	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNAI2_HUMAN	SNAI2	HGNC	.	.	UPI0000135A3A	SNV	SNAI2,synonymous_variant,p.%3D,ENST00000020945,;SNAI2,synonymous_variant,p.%3D,ENST00000396822,;	697	152	182	SUCCESS
ST18	9705	.	GRCh37	8	53079427	53079427	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200016532	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	89	0	ENST00000276480.7:c.1189C>T	p.Arg397Trp	p.R397W	ENST00000276480	NM_014682.2	397	Cgg/Tgg	0	A:0	A:0	.	A:0.0014	.	A	R/W	protein_coding	YES	CCDS6149.1	1189	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGCACTT	NONE	byCluster|by1000G	.	hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Superfamily_domains:0042508	A:0	A:0.0001	ENSP00000276480	A:0	11/26	.	.	.	.	.	.	.	.	rs200016532	11/26	PASS	ENST00000276480	Transcript	.	A:0.0002	ENSG00000147488	18695	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	A:0	deleterious(0)	.	ST18_HUMAN	ST18	HGNC	E5RHS3_HUMAN	.	UPI0000046C30	SNV	ST18,missense_variant,p.Arg397Trp,ENST00000517580,;ST18,missense_variant,p.Arg397Trp,ENST00000276480,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;	1873	89	95	SUCCESS
PDE7A	5150	.	GRCh37	8	66635516	66635516	+	intron_variant	Intron	SNP	G	G	A	rs191390711	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	8	0	ENST00000401827.3:c.1243+260C>T		p.*415*	ENST00000401827	NM_001242318.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS56538.1	.	MUTECT|MUSE|VARSCANS	.	TGAGCGAATAA	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000385632	A:0.005	.	.	.	.	.	.	.	.	.	rs191390711	.	PASS	ENST00000401827	Transcript	.	A:0.0068	ENSG00000205268	8791	.	.	MODIFIER	12/12	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.0297	.	.	PDE7A_HUMAN	PDE7A	HGNC	Q86V65_HUMAN,Q7Z7I0_HUMAN	.	UPI0000127BFD	SNV	PDE7A,3_prime_UTR_variant,,ENST00000396642,;MTFR1,intron_variant,,ENST00000521247,;MTFR1,intron_variant,,ENST00000527155,;PDE7A,intron_variant,,ENST00000379419,;PDE7A,intron_variant,,ENST00000401827,;MTFR1,intron_variant,,ENST00000523158,;MTFR1,upstream_gene_variant,,ENST00000527553,;PDE7A,downstream_gene_variant,,ENST00000518667,;MTFR1,downstream_gene_variant,,ENST00000520398,;MTFR1,downstream_gene_variant,,ENST00000518352,;PDE7A,downstream_gene_variant,,ENST00000522220,;	.	8	17	SUCCESS
MCMDC2	157777	.	GRCh37	8	67796211	67796211	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	47	0	ENST00000422365.2:c.1055A>T	p.Asp352Val	p.D352V	ENST00000422365	NM_173518.4	352	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS6197.2	1055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGATACTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF67,SMART_domains:SM00350	.	.	ENSP00000413632	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000422365	Transcript	.	.	ENSG00000178460	26368	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MCMD2_HUMAN	MCMDC2	HGNC	.	.	UPI00002107AF	SNV	MCMDC2,missense_variant,p.Asp289Val,ENST00000541540,;MCMDC2,missense_variant,p.Asp352Val,ENST00000396592,;MCMDC2,missense_variant,p.Asp352Val,ENST00000313616,;MCMDC2,missense_variant,p.Asp352Val,ENST00000492775,;MCMDC2,missense_variant,p.Asp352Val,ENST00000422365,;MCMDC2,3_prime_UTR_variant,,ENST00000415737,;MCMDC2,3_prime_UTR_variant,,ENST00000428734,;	1226	47	74	SUCCESS
ARFGEF1	10565	.	GRCh37	8	68151115	68151115	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	13	63	0	ENST00000262215.3:c.2993C>T	p.Ala998Val	p.A998V	ENST00000262215	NM_006421.4	998	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6199.1	2993	RADIA|MUTECT|MUSE|VARSCANS	.	CATATGCATCT	BUFFER|p.Q1001R|c.3002A>G|5	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137	.	.	ENSP00000262215	.	21/39	.	.	.	.	.	.	.	.	.	21/39	PASS	ENST00000262215	Transcript	.	.	ENSG00000066777	15772	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	BIG1_HUMAN	ARFGEF1	HGNC	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN	.	UPI000013D275	SNV	ARFGEF1,missense_variant,p.Ala998Val,ENST00000262215,;ARFGEF1,missense_variant,p.Ala452Val,ENST00000520381,;ARFGEF1,upstream_gene_variant,,ENST00000518230,;	3383	63	113	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70744859	70744859	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369685189	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	23	0	ENST00000260126.4:c.50C>T	p.Ala17Val	p.A17V	ENST00000260126	NM_030958.2	17	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6205.1	50	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCGCCTCC	NONE	byCluster	.	.	.	.	ENSP00000260126	.	2/10	.	.	.	.	.	.	.	.	rs369685189,COSM606212	2/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.003)	.	tolerated_low_confidence(0.18)	0,1	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,missense_variant,p.Ala17Val,ENST00000260126,;SLCO5A1,missense_variant,p.Ala17Val,ENST00000530307,;SLCO5A1,missense_variant,p.Ala17Val,ENST00000524945,;RP11-159H10.3,upstream_gene_variant,,ENST00000533300,;RP11-159H10.3,upstream_gene_variant,,ENST00000528800,;RP11-159H10.3,upstream_gene_variant,,ENST00000501104,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,downstream_gene_variant,,ENST00000524703,;SLCO5A1,downstream_gene_variant,,ENST00000531422,;SLCO5A1,missense_variant,p.Ala17Val,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;	757	23	32	SUCCESS
EYA1	2138	.	GRCh37	8	72267025	72267025	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs267601985	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	14	93	0	ENST00000340726.3:c.116G>A	p.Gly39Asp	p.G39D	ENST00000340726	NM_000503.4	39	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS34906.1	116	RADIA|MUTECT|MUSE|VARSCANS	not_provided	CGGTGCCATTG	NONE	.	.	hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	.	.	ENSP00000342626	.	3/18	.	.	.	.	.	.	.	.	rs267601985,COSM70664	3/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	0,1	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,missense_variant,p.Gly39Asp,ENST00000419131,;EYA1,missense_variant,p.Gly39Asp,ENST00000388742,;EYA1,missense_variant,p.Gly39Asp,ENST00000340726,;EYA1,missense_variant,p.Gly39Asp,ENST00000388743,;EYA1,missense_variant,p.Gly39Asp,ENST00000303824,;EYA1,intron_variant,,ENST00000388741,;EYA1,intron_variant,,ENST00000388740,;EYA1,missense_variant,p.Gly39Asp,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	756	93	107	SUCCESS
RDH10	157506	.	GRCh37	8	74209403	74209403	+	intron_variant	Intron	SNP	C	C	A	rs753294985	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	8	78	0	ENST00000240285.5:c.290-26C>A		p.*97*	ENST00000240285	NM_172037.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6213.1	.	MUTECT|MUSE	.	GTTTTCTCCTC	NONE	.	.	.	.	.	ENSP00000240285	.	.	.	.	.	.	.	.	.	.	rs753294985	.	PASS	ENST00000240285	Transcript	.	.	ENSG00000121039	19975	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RDH10_HUMAN	RDH10	HGNC	E5RK48_HUMAN,E5RHJ9_HUMAN	.	UPI0000054C83	SNV	RDH10,5_prime_UTR_variant,,ENST00000519380,;RDH10,intron_variant,,ENST00000240285,;RDH10,intron_variant,,ENST00000521928,;RPL7,upstream_gene_variant,,ENST00000431653,;RPL7,upstream_gene_variant,,ENST00000352983,;RPL7,upstream_gene_variant,,ENST00000396465,;RPL7,upstream_gene_variant,,ENST00000396467,;RPL7,upstream_gene_variant,,ENST00000396466,;RPL7,upstream_gene_variant,,ENST00000435330,;RP11-434I12.2,downstream_gene_variant,,ENST00000520894,;RDH10,intron_variant,,ENST00000518870,;	.	78	121	SUCCESS
GDAP1	54332	.	GRCh37	8	75276245	75276245	+	synonymous_variant	Silent	SNP	C	C	T	rs367790253	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	20	133	0	ENST00000220822.7:c.720C>T	p.Cys240=	p.C240=	ENST00000220822	NM_001040875.2	240	tgC/tgT	0	T:0	.	.	.	.	T	C	protein_coding	YES	CCDS34911.1	720	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCGGTGA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF127,hmmpanther:PTHR11260,Gene3D:1.20.1050.10,Pfam_domain:PF13410,Superfamily_domains:SSF47616	.	T:0.0001	ENSP00000220822	.	6/6	.	.	.	.	.	.	.	.	rs367790253	6/6	PASS	ENST00000220822	Transcript	1	.	ENSG00000104381	15968	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GDAP1_HUMAN	GDAP1	HGNC	B4DIH2_HUMAN	.	UPI00001AE62B	SNV	GDAP1,synonymous_variant,p.%3D,ENST00000434412,;GDAP1,synonymous_variant,p.%3D,ENST00000220822,;GDAP1,non_coding_transcript_exon_variant,,ENST00000524366,;GDAP1,non_coding_transcript_exon_variant,,ENST00000521096,;GDAP1,non_coding_transcript_exon_variant,,ENST00000520797,;GDAP1,intron_variant,,ENST00000524195,;GDAP1,downstream_gene_variant,,ENST00000523640,;GDAP1,3_prime_UTR_variant,,ENST00000522568,;	800	133	181	SUCCESS
ZFHX4	79776	.	GRCh37	8	77617094	77617094	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	38	96	0	ENST00000521891.2:c.771T>C	p.Pro257=	p.P257=	ENST00000521891	NM_024721.4	257	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS47878.2	771	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCTAACAA	NONE	.	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	.	.	ENSP00000430497	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000521891	Transcript	.	.	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	1219	96	113	SUCCESS
ZFHX4	79776	.	GRCh37	8	77617133	77617133	+	synonymous_variant	Silent	SNP	C	C	T	rs369214100	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	6	102	0	ENST00000521891.2:c.810C>T	p.Ser270=	p.S270=	ENST00000521891	NM_024721.4	270	agC/agT	0	T:0.0007	T:0.0023	.	T:0	.	T	S	protein_coding	YES	CCDS47878.2	810	MUTECT|MUSE	.	GTTAGCGATGG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24208:SF40,hmmpanther:PTHR24208	T:0	T:0	ENSP00000430497	T:0	2/11	.	.	.	.	.	.	.	.	rs369214100,COSM2875987,COSM3432564	2/11	PASS	ENST00000521891	Transcript	.	T:0.0006	ENSG00000091656	30939	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	T:0	.	0,1,1	.	ZFHX4	HGNC	Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	.	UPI0000424CC7	SNV	ZFHX4,synonymous_variant,p.%3D,ENST00000518282,;ZFHX4,synonymous_variant,p.%3D,ENST00000455469,;ZFHX4,synonymous_variant,p.%3D,ENST00000050961,;ZFHX4,synonymous_variant,p.%3D,ENST00000521891,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	1258	102	150	SUCCESS
PAG1	55824	.	GRCh37	8	81897456	81897456	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	33	96	0	ENST00000220597.4:c.431C>T	p.Thr144Ile	p.T144I	ENST00000220597	NM_018440.3	144	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS6227.1	431	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCATGGTATCC	BUFFER|p.S140S|c.420C>T|3	.	.	Pfam_domain:PF15347,hmmpanther:PTHR16322,hmmpanther:PTHR16322:SF0	.	.	ENSP00000220597	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000220597	Transcript	.	.	ENSG00000076641	30043	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.113)	.	deleterious(0.04)	.	PHAG1_HUMAN	PAG1	HGNC	.	.	UPI0000072E56	SNV	PAG1,missense_variant,p.Thr144Ile,ENST00000220597,;PAG1,downstream_gene_variant,,ENST00000522811,;	1142	96	128	SUCCESS
SDC2	6383	.	GRCh37	8	97621775	97621775	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	15	66	0	ENST00000302190.4:c.*2del		p.*202fs	ENST00000302190	NM_002998.3	202	tAa/ta	0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS6272.1	605	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCGTAAAACT	NONE	.	.	.	.	.	ENSP00000307046	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000302190	Transcript	.	.	ENSG00000169439	10659	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDC2_HUMAN	SDC2	HGNC	E5RJB8_HUMAN,E9PBI9_HUMAN,E5RHU3_HUMAN,B4DT61_HUMAN	.	UPI000013E7A4	deletion	SDC2,frameshift_variant,,ENST00000522911,;SDC2,frameshift_variant,,ENST00000302190,;SDC2,frameshift_variant,,ENST00000518385,;SDC2,frameshift_variant,,ENST00000519914,;SDC2,downstream_gene_variant,,ENST00000521590,;SDC2,downstream_gene_variant,,ENST00000523877,;	1526	66	100	SUCCESS
TEX10	54881	.	GRCh37	9	103065915	103065915	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs371930194	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	24	162	0	ENST00000374902.4:c.2675C>T	p.Thr892Met	p.T892M	ENST00000374902	NM_017746.3	892	aCg/aTg	0	A:0	.	.	.	.	A	T/M	protein_coding	YES	CCDS6748.1	2675	RADIA|MUTECT|MUSE|VARSCANS	.	TTACCGTGATA	NONE	byCluster	.	hmmpanther:PTHR16056,hmmpanther:PTHR16056:SF2	.	A:0.0001	ENSP00000364037	.	14/15	.	.	.	.	.	.	.	.	rs371930194	14/15	PASS	ENST00000374902	Transcript	.	.	ENSG00000136891	25988	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.41)	.	TEX10_HUMAN	TEX10	HGNC	.	.	UPI000013D052	SNV	TEX10,missense_variant,p.Thr892Met,ENST00000374902,;TEX10,missense_variant,p.Thr876Met,ENST00000535814,;INVS,downstream_gene_variant,,ENST00000262457,;INVS,downstream_gene_variant,,ENST00000262456,;TEX10,splice_region_variant,,ENST00000477648,;	2852	162	155	SUCCESS
DEC1	0	.	GRCh37	9	118163488	118163488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	10	31	0	ENST00000374016.1:c.104T>C	p.Leu35Pro	p.L35P	ENST00000374016	NM_017418.2	35	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS6812.1	104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGCACA	NONE	.	.	.	.	.	ENSP00000363128	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000374016	Transcript	.	.	ENSG00000173077	23658	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.202)	.	deleterious_low_confidence(0)	.	DEC1_HUMAN	DEC1	HGNC	.	.	UPI0000071741	SNV	DEC1,missense_variant,p.Leu35Pro,ENST00000374016,;	623	31	57	SUCCESS
BRINP1	1620	.	GRCh37	9	122011281	122011281	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	85	0	ENST00000265922.3:c.366C>A	p.Ile122=	p.I122=	ENST00000265922	NM_014618.2	122	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS6822.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGATGAT	NONE	.	.	SMART_domains:SM00457,Pfam_domain:PF01823,hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,synonymous_variant,p.%3D,ENST00000265922,;BRINP1,synonymous_variant,p.%3D,ENST00000373964,;	828	86	88	SUCCESS
OR1L8	138881	.	GRCh37	9	125330390	125330390	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144149024	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	58	133	1	ENST00000304865.2:c.367C>T	p.Arg123Cys	p.R123C	ENST00000304865	NM_001004454.1	123	Cgc/Tgc	0	A:0	.	.	.	.	A	R/C	protein_coding	YES	CCDS35124.1	367	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCGGTCAA	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF277,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	A:0.0002	ENSP00000306607	.	1/1	.	.	.	.	.	.	.	.	rs144149024	1/1	PASS	ENST00000304865	Transcript	.	.	ENSG00000171496	15110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0.01)	.	OR1L8_HUMAN	OR1L8	HGNC	.	.	UPI0000041CB7	SNV	OR1L8,missense_variant,p.Arg123Cys,ENST00000304865,;	449	134	137	SUCCESS
DNM1	1759	.	GRCh37	9	131012531	131012531	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	30	78	0	ENST00000372923.3:c.2214G>A	p.Ala738=	p.A738=	ENST00000372923	NM_004408.2	738	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS6895.1	2214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGCTCAG	NONE	.	.	PROSITE_profiles:PS51388,hmmpanther:PTHR11566:SF32,hmmpanther:PTHR11566,Pfam_domain:PF02212,SMART_domains:SM00302	.	.	ENSP00000362014	.	20/22	.	.	.	.	.	.	.	.	.	20/22	PASS	ENST00000372923	Transcript	.	.	ENSG00000106976	2972	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYN1_HUMAN	DNM1	HGNC	.	.	UPI000013CA31	SNV	DNM1,synonymous_variant,p.%3D,ENST00000341179,;DNM1,synonymous_variant,p.%3D,ENST00000372923,;DNM1,synonymous_variant,p.%3D,ENST00000486160,;DNM1,synonymous_variant,p.%3D,ENST00000475805,;DNM1,synonymous_variant,p.%3D,ENST00000393594,;DNM1,downstream_gene_variant,,ENST00000479174,;DNM1,downstream_gene_variant,,ENST00000493925,;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;	2306	78	95	SUCCESS
COQ4	51117	.	GRCh37	9	131084864	131084864	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	18	0	ENST00000300452.3:c.-274T>C		p.*92*	ENST00000300452	NM_016035.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6897.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGTGGTTG	NONE	.	.	.	.	.	ENSP00000361982	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000372890	Transcript	.	.	ENSG00000167112	17170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRUB2_HUMAN	TRUB2	HGNC	B7Z7G5_HUMAN	.	UPI0000074026	SNV	TRUB2,5_prime_UTR_variant,,ENST00000372890,;COQ4,5_prime_UTR_variant,,ENST00000300452,;COQ4,5_prime_UTR_variant,,ENST00000608951,;COQ4,5_prime_UTR_variant,,ENST00000609948,;COQ4,upstream_gene_variant,,ENST00000372875,;TRUB2,upstream_gene_variant,,ENST00000546104,;TRUB2,upstream_gene_variant,,ENST00000460320,;	158	18	25	SUCCESS
PKN3	29941	.	GRCh37	9	131480648	131480650	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	rs747170999	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	97	0	ENST00000291906.4:c.2036_2038del	p.Lys679del	p.K679del	ENST00000291906	NM_013355.3	677	gAGAag/gag	0	.	.	.	.	.	-	EK/E	protein_coding	YES	CCDS6908.1	2030-2032	INDELOCATOR*|VARSCANI*|PINDEL	.	TACACGAGAAGAAG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357,PROSITE_profiles:PS50011	.	.	ENSP00000291906	.	17/22	.	.	.	.	.	.	.	.	rs747170999	17/22	PASS	ENST00000291906	Transcript	.	.	ENSG00000160447	17999	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKN3_HUMAN	PKN3	HGNC	Q05BU1_HUMAN	.	UPI000013E087	deletion	PKN3,inframe_deletion,p.Lys679del,ENST00000291906,;ZDHHC12,downstream_gene_variant,,ENST00000372667,;ZDHHC12,downstream_gene_variant,,ENST00000406904,;ZDHHC12,downstream_gene_variant,,ENST00000372672,;ZDHHC12,downstream_gene_variant,,ENST00000372663,;ZDHHC12,downstream_gene_variant,,ENST00000452105,;PKN3,non_coding_transcript_exon_variant,,ENST00000485301,;PKN3,intron_variant,,ENST00000483521,;ZDHHC12,downstream_gene_variant,,ENST00000467312,;	2423-2425	97	65	SUCCESS
C9orf78	51759	.	GRCh37	9	132595904	132595904	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	104	0	ENST00000372447.3:c.195+33G>A		p.*65*	ENST00000372447	NM_016520.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6931.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCATAA	NONE	.	.	.	.	.	ENSP00000361524	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372447	Transcript	.	.	ENSG00000136819	24932	.	.	MODIFIER	3/8	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CI078_HUMAN	C9orf78	HGNC	.	.	UPI000006F0CA	SNV	C9orf78,intron_variant,,ENST00000372447,;USP20,upstream_gene_variant,,ENST00000372429,;USP20,upstream_gene_variant,,ENST00000358355,;USP20,upstream_gene_variant,,ENST00000315480,;C9orf78,non_coding_transcript_exon_variant,,ENST00000461762,;C9orf78,intron_variant,,ENST00000461539,;C9orf78,intron_variant,,ENST00000492991,;C9orf78,intron_variant,,ENST00000461349,;USP20,upstream_gene_variant,,ENST00000491053,;C9orf78,upstream_gene_variant,,ENST00000495934,;C9orf78,upstream_gene_variant,,ENST00000480023,;USP20,upstream_gene_variant,,ENST00000494971,;	.	104	84	SUCCESS
USP20	10868	.	GRCh37	9	132631276	132631276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	68	0	ENST00000315480.4:c.1271A>G	p.Lys424Arg	p.K424R	ENST00000315480		424	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS43892.1	1271	MUTECT|MUSE	.	GCTCAAGAAAG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443	.	.	ENSP00000313811	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000315480	Transcript	.	.	ENSG00000136878	12619	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.247)	.	deleterious(0.01)	.	UBP20_HUMAN	USP20	HGNC	Q9UQN9_HUMAN	.	UPI000013D050	SNV	USP20,missense_variant,p.Lys424Arg,ENST00000372429,;USP20,missense_variant,p.Lys424Arg,ENST00000358355,;USP20,missense_variant,p.Lys424Arg,ENST00000315480,;USP20,non_coding_transcript_exon_variant,,ENST00000491731,;USP20,intron_variant,,ENST00000474895,;	1429	68	71	SUCCESS
COL5A1	1289	.	GRCh37	9	137687112	137687112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs375600865	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	62	0	ENST00000371817.3:c.2750C>T	p.Pro917Leu	p.P917L	ENST00000371817	NM_001278074.1	917	cCg/cTg	0	T:0	.	.	.	.	T	P/L	protein_coding	YES	CCDS6982.1	2750	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCGAGGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	T:0.0001	ENSP00000360882	.	34/66	.	.	.	.	.	.	.	.	rs375600865,COSM204691	34/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	unknown(0)	.	.	0,1	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Pro917Leu,ENST00000371817,;	3164	62	92	SUCCESS
PPP1R26	9858	.	GRCh37	9	138376419	138376419	+	synonymous_variant	Silent	SNP	G	G	A	rs769096725	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	56	0	ENST00000356818.2:c.63G>A	p.Pro21=	p.P21=	ENST00000356818	NM_014811.3	21	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS6988.1	63	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCGCCAGG	NONE	byFrequency	.	hmmpanther:PTHR15724	.	.	ENSP00000349274	.	4/4	.	.	.	.	.	.	.	.	rs769096725,COSM3905495	4/4	PASS	ENST00000356818	Transcript	.	.	ENSG00000196422	29089	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PPR26_HUMAN	PPP1R26	HGNC	Q5T8A6_HUMAN	.	UPI000013DB17	SNV	PPP1R26,synonymous_variant,p.%3D,ENST00000604351,;PPP1R26,synonymous_variant,p.%3D,ENST00000605660,;PPP1R26,synonymous_variant,p.%3D,ENST00000356818,;PPP1R26,synonymous_variant,p.%3D,ENST00000401470,;PPP1R26,synonymous_variant,p.%3D,ENST00000605286,;PPP1R26-AS1,upstream_gene_variant,,ENST00000603893,;PPP1R26-AS1,upstream_gene_variant,,ENST00000605260,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26,intron_variant,,ENST00000602993,;	612	56	71	SUCCESS
PPP1R26	9858	.	GRCh37	9	138376561	138376561	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754686666	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	24	0	ENST00000356818.2:c.205G>A	p.Ala69Thr	p.A69T	ENST00000356818	NM_014811.3	69	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS6988.1	205	RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCGCACAG	NONE	.	.	hmmpanther:PTHR15724	.	.	ENSP00000349274	.	4/4	.	.	.	.	.	.	.	.	rs754686666	4/4	PASS	ENST00000356818	Transcript	.	.	ENSG00000196422	29089	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.091)	.	tolerated(0.85)	.	PPR26_HUMAN	PPP1R26	HGNC	Q5T8A6_HUMAN	.	UPI000013DB17	SNV	PPP1R26,missense_variant,p.Ala69Thr,ENST00000604351,;PPP1R26,missense_variant,p.Ala69Thr,ENST00000605660,;PPP1R26,missense_variant,p.Ala69Thr,ENST00000356818,;PPP1R26,missense_variant,p.Ala69Thr,ENST00000401470,;PPP1R26,missense_variant,p.Ala69Thr,ENST00000605286,;PPP1R26-AS1,upstream_gene_variant,,ENST00000603893,;PPP1R26-AS1,upstream_gene_variant,,ENST00000605260,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26,intron_variant,,ENST00000602993,;	754	24	48	SUCCESS
MRPS2	51116	.	GRCh37	9	138395347	138395347	+	intron_variant	Intron	SNP	G	G	A	rs367667506	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	27	0	ENST00000241600.5:c.300-41G>A		p.*100*	ENST00000241600	NM_016034.4			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS6990.1	.	MUTECT|MUSE	.	GCCCCGTGAAC	NONE	byFrequency|byCluster	.	.	.	A:0.0002	ENSP00000360850	.	.	.	.	.	.	.	.	.	.	rs367667506	.	PASS	ENST00000371785	Transcript	.	.	ENSG00000122140	14495	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RT02_HUMAN	MRPS2	HGNC	Q96Q47_HUMAN	.	UPI000013522F	SNV	MRPS2,intron_variant,,ENST00000453385,;MRPS2,intron_variant,,ENST00000241600,;MRPS2,intron_variant,,ENST00000371785,;C9orf116,upstream_gene_variant,,ENST00000371791,;C9orf116,upstream_gene_variant,,ENST00000419770,;C9orf116,upstream_gene_variant,,ENST00000371789,;C9orf116,upstream_gene_variant,,ENST00000429260,;RP11-426A6.5,non_coding_transcript_exon_variant,,ENST00000415062,;MRPS2,intron_variant,,ENST00000488610,;MRPS2,intron_variant,,ENST00000472946,;MRPS2,intron_variant,,ENST00000472852,;MRPS2,intron_variant,,ENST00000462948,;MRPS2,intron_variant,,ENST00000485333,;C9orf116,upstream_gene_variant,,ENST00000371786,;	.	27	34	SUCCESS
SOHLH1	402381	.	GRCh37	9	138591347	138591347	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	62	0	ENST00000298466.5:c.-34C>T		p.*12*	ENST00000298466	NM_001012415.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48054.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCACGGCCCC	NONE	.	.	.	.	.	ENSP00000404438	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000425225	Transcript	.	.	ENSG00000165643	27845	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOLH1_HUMAN	SOHLH1	HGNC	.	.	UPI0001AE6F1C	SNV	SOHLH1,5_prime_UTR_variant,,ENST00000298466,;SOHLH1,5_prime_UTR_variant,,ENST00000425225,;KCNT1,upstream_gene_variant,,ENST00000298480,;KCNT1,upstream_gene_variant,,ENST00000487664,;KCNT1,upstream_gene_variant,,ENST00000371757,;KCNT1,upstream_gene_variant,,ENST00000460750,;	28	62	83	SUCCESS
NOTCH1	4851	.	GRCh37	9	139405699	139405699	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761406127	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	52	0	ENST00000277541.6:c.2492C>T	p.Ala831Val	p.A831V	ENST00000277541	NM_017617.3	831	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS43905.1	2492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGGGCCAGC	NONE	byFrequency	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF37,hmmpanther:PTHR24033,PIRSF_domain:PIRSF002279	.	.	ENSP00000277541	.	16/34	.	.	.	.	.	.	.	.	rs761406127	16/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.25)	.	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	SNV	NOTCH1,missense_variant,p.Ala831Val,ENST00000277541,;	2568	52	58	SUCCESS
FBXW5	54461	.	GRCh37	9	139835867	139835867	+	synonymous_variant	Silent	SNP	G	G	A	rs372957829	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	37	0	ENST00000325285.3:c.1293C>T	p.Ala431=	p.A431=	ENST00000325285	NM_018998.3	431	gcC/gcT	0	A:0	.	.	.	.	A	A	protein_coding	YES	CCDS7014.1	1293	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCGGCCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR20995,hmmpanther:PTHR20995:SF15,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	A:0.0001	ENSP00000313034	.	8/9	.	.	.	.	.	.	.	.	rs372957829	8/9	PASS	ENST00000325285	Transcript	.	.	ENSG00000159069	13613	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW5_HUMAN	FBXW5	HGNC	.	.	UPI000006EC75	SNV	FBXW5,synonymous_variant,p.%3D,ENST00000325285,;FBXW5,synonymous_variant,p.%3D,ENST00000433269,;FBXW5,downstream_gene_variant,,ENST00000443788,;C8G,upstream_gene_variant,,ENST00000224181,;C8G,upstream_gene_variant,,ENST00000371634,;FBXW5,downstream_gene_variant,,ENST00000428398,;RP11-229P13.25,upstream_gene_variant,,ENST00000569497,;FBXW5,non_coding_transcript_exon_variant,,ENST00000483559,;FBXW5,non_coding_transcript_exon_variant,,ENST00000487794,;FBXW5,non_coding_transcript_exon_variant,,ENST00000459905,;FBXW5,downstream_gene_variant,,ENST00000491246,;FBXW5,downstream_gene_variant,,ENST00000480818,;C8G,upstream_gene_variant,,ENST00000484376,;RP11-229P13.2,downstream_gene_variant,,ENST00000395082,;	1373	37	51	SUCCESS
FUT7	2529	.	GRCh37	9	139925470	139925470	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	12	129	0	ENST00000314412.6:c.721T>A	p.Phe241Ile	p.F241I	ENST00000314412	NM_004479.3	241	Ttc/Atc	0	.	.	.	.	.	T	F/I	protein_coding	YES	CCDS7022.1	721	MUTECT|MUSE	.	CCAGAATTTCT	NONE	.	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF12,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000318142	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314412	Transcript	.	.	ENSG00000180549	4018	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.587)	.	deleterious(0.02)	.	FUT7_HUMAN	FUT7	HGNC	.	.	UPI000012ADAF	SNV	FUT7,missense_variant,p.Phe241Ile,ENST00000314412,;C9orf139,intron_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	1740	129	142	SUCCESS
ADAMTSL1	92949	.	GRCh37	9	18777687	18777687	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs776062342	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	16	87	0	ENST00000380548.4:c.3464del	p.Gly1155GlufsTer42	p.G1155Efs*42	ENST00000380548	NM_001040272.5	1154	Ggg/gg	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS47954.1	3460	INDELOCATOR*|VARSCANI*|PINDEL	.	GACGCCGGGGGA	NONE	.	.	hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	.	.	ENSP00000369921	.	19/29	.	.	.	.	.	.	.	.	rs776062342	19/29	PASS	ENST00000380548	Transcript	.	.	ENSG00000178031	14632	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATL1_HUMAN	ADAMTSL1	HGNC	H7BYE3_HUMAN	.	UPI000004FD83	deletion	ADAMTSL1,frameshift_variant,p.Gly1155GlufsTer42,ENST00000380548,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	3799	87	83	SUCCESS
KCNV2	169522	.	GRCh37	9	2718843	2718843	+	synonymous_variant	Silent	SNP	C	C	T	rs960100570	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	42	0	ENST00000382082.3:c.1104C>T	p.Ser368=	p.S368=	ENST00000382082	NM_133497.3	368	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6447.1	1104	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCGTGGG	BUFFER|p.T365M|c.1094C>T|3	.	.	Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40	.	.	ENSP00000371514	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000382082	Transcript	.	.	ENSG00000168263	19698	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNV2_HUMAN	KCNV2	HGNC	.	.	UPI0000048D8E	SNV	KCNV2,synonymous_variant,p.%3D,ENST00000382082,;KIAA0020,downstream_gene_variant,,ENST00000490444,;	1342	42	44	SUCCESS
TOPORS	10210	.	GRCh37	9	32544180	32544180	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1203	126	1591	0	ENST00000360538.2:c.343T>C	p.Tyr115His	p.Y115H	ENST00000360538	NM_005802.4	115	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS6527.1	343	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAAGTAAGACA	NONE	.	.	PROSITE_profiles:PS50089,hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	.	.	ENSP00000353735	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.884)	.	tolerated(0.06)	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,missense_variant,p.Tyr115His,ENST00000360538,;TOPORS,missense_variant,p.Tyr50His,ENST00000379858,;AL353671.2,upstream_gene_variant,,ENST00000359975,;AL353671.1,downstream_gene_variant,,ENST00000366355,;	460	1591	1329	SUCCESS
TAF1L	138474	.	GRCh37	9	32635412	32635412	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1192501986	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	43	224	1	ENST00000242310.4:c.166G>A	p.Val56Ile	p.V56I	ENST00000242310	NM_153809.2	56	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS35003.1	166	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGACGCTTT	NONE	.	.	hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Gene3D:1tbaA00,Pfam_domain:PF09247,PIRSF_domain:PIRSF003047,Superfamily_domains:0043927	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.54)	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,missense_variant,p.Val56Ile,ENST00000242310,;RP11-555J4.4,intron_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	256	226	179	SUCCESS
RPP25L	138716	.	GRCh37	9	34611031	34611031	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs756300443	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	82	0	ENST00000297613.4:c.263G>A	p.Arg88His	p.R88H	ENST00000297613	NM_148179.2	88	cGt/cAt	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS6559.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACGTAGC	NONE	byFrequency	.	hmmpanther:PTHR13516,hmmpanther:PTHR13516:SF2,Pfam_domain:PF01918,Gene3D:3.30.110.20,Superfamily_domains:SSF82704	.	.	ENSP00000297613	.	2/2	.	.	.	.	.	.	.	.	rs756300443	2/2	PASS	ENST00000297613	Transcript	.	.	ENSG00000164967	19909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	RP25L_HUMAN	RPP25L	HGNC	.	.	UPI000006FAD5	SNV	RPP25L,missense_variant,p.Arg88His,ENST00000297613,;RPP25L,missense_variant,p.Arg88His,ENST00000378959,;DCTN3,downstream_gene_variant,,ENST00000447983,;DCTN3,downstream_gene_variant,,ENST00000378916,;DCTN3,downstream_gene_variant,,ENST00000341694,;DCTN3,downstream_gene_variant,,ENST00000378913,;DCTN3,downstream_gene_variant,,ENST00000421919,;DCTN3,downstream_gene_variant,,ENST00000259632,;DCTN3,downstream_gene_variant,,ENST00000477738,;DCTN3,downstream_gene_variant,,ENST00000472074,;DCTN3,downstream_gene_variant,,ENST00000472418,;DCTN3,downstream_gene_variant,,ENST00000479399,;DCTN3,downstream_gene_variant,,ENST00000481438,;	544	82	79	SUCCESS
SHB	6461	.	GRCh37	9	37919975	37919975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	23	93	0	ENST00000377707.3:c.1373A>G	p.Lys458Arg	p.K458R	ENST00000377707	NM_003028.2	458	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS43806.1	1373	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTTTCATG	NONE	.	.	Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF31,PROSITE_profiles:PS50001	.	.	ENSP00000366936	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000377707	Transcript	.	.	ENSG00000107338	10838	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	.	deleterious(0)	.	SHB_HUMAN	SHB	HGNC	.	.	UPI000021143B	SNV	SHB,missense_variant,p.Lys458Arg,ENST00000377707,;RP11-613M10.9,intron_variant,,ENST00000540557,;	1939	93	108	SUCCESS
PRKACG	5568	.	GRCh37	9	71628335	71628335	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1451893780	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	78	0	ENST00000377276.2:c.674T>C	p.Leu225Pro	p.L225P	ENST00000377276	NM_002732.3	225	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS6625.1	674	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTAGGGCC	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF53,PROSITE_profiles:PS50011	.	.	ENSP00000366488	.	1/1	.	.	.	.	.	.	.	.	COSM1554898	1/1	PASS	ENST00000377276	Transcript	.	.	ENSG00000165059	9382	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	KAPCG_HUMAN	PRKACG	HGNC	.	.	UPI000013E448	SNV	PRKACG,missense_variant,p.Leu225Pro,ENST00000377276,;PIP5K1B,downstream_gene_variant,,ENST00000265382,;PIP5K1B,downstream_gene_variant,,ENST00000541509,;PIP5K1B,downstream_gene_variant,,ENST00000478500,;	705	78	85	SUCCESS
KDM4C	23081	.	GRCh37	9	7174674	7174674	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	8	149	0	ENST00000381309.3:c.3116T>C	p.Val1039Ala	p.V1039A	ENST00000381309	NM_015061.3	1039	gTa/gCa	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS6471.1	3116	MUTECT|MUSE	.	CCCTGTATACC	NONE	.	.	.	.	.	ENSP00000370710	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000381309	Transcript	.	.	ENSG00000107077	17071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.214)	.	tolerated(0.19)	.	KDM4C_HUMAN	KDM4C	HGNC	C9J879_HUMAN	.	UPI0000367602	SNV	KDM4C,missense_variant,p.Val1039Ala,ENST00000381309,;KDM4C,missense_variant,p.Val726Ala,ENST00000428870,;KDM4C,missense_variant,p.Val784Ala,ENST00000442236,;KDM4C,downstream_gene_variant,,ENST00000381306,;KDM4C,downstream_gene_variant,,ENST00000420847,;KDM4C,downstream_gene_variant,,ENST00000490806,;KDM4C,downstream_gene_variant,,ENST00000466673,;	3681	149	131	SUCCESS
APBA1	320	.	GRCh37	9	72131414	72131414	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	15	0	ENST00000265381.4:c.713A>G	p.Tyr238Cys	p.Y238C	ENST00000265381	NM_001163.3	238	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6630.1	713	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGTAATGG	NONE	.	.	hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	.	.	ENSP00000265381	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,missense_variant,p.Tyr238Cys,ENST00000265381,;	936	15	21	SUCCESS
SECISBP2	79048	.	GRCh37	9	91940370	91940370	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	78	0	ENST00000375807.3:c.211T>G	p.Phe71Val	p.F71V	ENST00000375807	NM_024077.3	71	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS6683.1	211	MUTECT|MUSE	.	TGGCCTTTGGA	NONE	.	.	hmmpanther:PTHR13284:SF9,hmmpanther:PTHR13284	.	.	ENSP00000364965	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000375807	Transcript	.	.	ENSG00000187742	30972	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.507)	.	deleterious(0.03)	.	SEBP2_HUMAN	SECISBP2	HGNC	Q9H948_HUMAN,Q7L1Z0_HUMAN,Q6AW84_HUMAN,F8W892_HUMAN	.	UPI00001AEA0A	SNV	SECISBP2,missense_variant,p.Phe3Val,ENST00000534113,;SECISBP2,missense_variant,p.Phe71Val,ENST00000375807,;SECISBP2,intron_variant,,ENST00000339901,;SECISBP2,upstream_gene_variant,,ENST00000425851,;SECISBP2,non_coding_transcript_exon_variant,,ENST00000470305,;	282	78	86	SUCCESS
C9orf129	445577	.	GRCh37	9	96080811	96080812	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs1403859834	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	119	21	87	0	ENST00000375419.1:c.459dup	p.His154AlafsTer6	p.H154Afs*6	ENST00000375419	NM_001098808.1	153	-/G	0	.	.	.	.	.	C	-/X	protein_coding	YES	CCDS43850.1	459-460	INDELOCATOR*|VARSCANI*|PINDEL	.	GACATGCCCCC	NONE	.	.	hmmpanther:PTHR15976:SF13,hmmpanther:PTHR15976	.	.	ENSP00000364568	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375419	Transcript	.	.	ENSG00000204352	31116	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CI129_HUMAN	C9orf129	HGNC	.	.	UPI000047014B	insertion	C9orf129,frameshift_variant,p.His154AlafsTer6,ENST00000375419,;WNK2,3_prime_UTR_variant,,ENST00000432730,;WNK2,3_prime_UTR_variant,,ENST00000411624,;WNK2,intron_variant,,ENST00000349097,;WNK2,intron_variant,,ENST00000395475,;WNK2,intron_variant,,ENST00000356055,;WNK2,intron_variant,,ENST00000448251,;WNK2,intron_variant,,ENST00000395477,;WNK2,downstream_gene_variant,,ENST00000427277,;WNK2,downstream_gene_variant,,ENST00000297954,;WNK2,intron_variant,,ENST00000471076,;WNK2,intron_variant,,ENST00000467401,;	823-824	87	140	SUCCESS
HSD17B3	3293	.	GRCh37	9	99006674	99006674	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs560518006	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	30	90	0	ENST00000375263.3:c.609G>A		p.X203_splice	ENST00000375263	NM_000197.1	203	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS6716.1	609	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACGCCTG	NONE	byFrequency|byCluster	.	Prints_domain:PR00081,Prints_domain:PR00080,Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Gene3D:3.40.50.720,Pfam_domain:PF00106,PROSITE_patterns:PS00061,hmmpanther:PTHR24316:SF296,hmmpanther:PTHR24316	.	.	ENSP00000364412	.	9/11	.	.	.	.	.	.	.	.	rs560518006	9/11	PASS	ENST00000375263	Transcript	.	.	ENSG00000130948	5212	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHB3_HUMAN	HSD17B3	HGNC	Q6FH62_HUMAN	.	UPI0000001643	SNV	HSD17B3,synonymous_variant,p.%3D,ENST00000375263,;HSD17B3,synonymous_variant,p.%3D,ENST00000375262,;RP11-240L7.4,upstream_gene_variant,,ENST00000448857,;HSD17B3,splice_region_variant,,ENST00000494814,;HSD17B3,splice_region_variant,,ENST00000464104,;HSD17B3,upstream_gene_variant,,ENST00000484816,;HSD17B3,upstream_gene_variant,,ENST00000467499,;	657	90	67	SUCCESS
ARMCX1	51309	.	GRCh37	X	100807849	100807849	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	31	0	ENST00000372829.3:c.-65G>A		p.*22*	ENST00000372829	NM_016608.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14487.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCGCGCTT	NONE	.	.	.	.	.	ENSP00000361917	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372829	Transcript	.	.	ENSG00000126947	18073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMX1_HUMAN	ARMCX1	HGNC	Q68D26_HUMAN	.	UPI00000411D9	SNV	ARMCX1,5_prime_UTR_variant,,ENST00000372829,;	307	31	47	SUCCESS
NXF3	56000	.	GRCh37	X	102334186	102334186	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	507	11	435	0	ENST00000395065.3:c.1341G>A	p.Trp447Ter	p.W447*	ENST00000395065	NM_022052.1	447	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS14503.1	1341	MUTECT|MUSE	.	AGCATCCATTC	SITE|p.W447*|c.1341G>A|3	.	.	PROSITE_profiles:PS50177,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Pfam_domain:PF02136,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	.	.	ENSP00000378504	.	16/20	.	.	.	.	.	.	.	.	COSM1259761,COSM1682781	16/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	HIGH	.	PRIMARY	.	.	.	.	2	1,1	.	.	.	.	.	1,1	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,stop_gained,p.Trp447Ter,ENST00000395065,;NXF3,stop_gained,p.Trp324Ter,ENST00000427570,;NXF3,stop_gained,p.Trp119Ter,ENST00000425644,;NXF3,downstream_gene_variant,,ENST00000425463,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,non_coding_transcript_exon_variant,,ENST00000468528,;NXF3,non_coding_transcript_exon_variant,,ENST00000470724,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000460791,;	1443	435	518	SUCCESS
BEX4	56271	.	GRCh37	X	102471235	102471236	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	368	52	328	0	ENST00000372691.3:c.159dup	p.Arg54AlafsTer3	p.R54Afs*3	ENST00000372691	NM_001127688.2	52	cgg/cGgg	0	.	.	.	.	.	G	R/RX	protein_coding	YES	CCDS35355.1	154-155	VARSCANI*|PINDEL	.	TCAGGCGGGGG	NONE	.	.	hmmpanther:PTHR13987:SF3,hmmpanther:PTHR13987,Pfam_domain:PF04538,PIRSF_domain:PIRSF008633	.	.	ENSP00000361780	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372695	Transcript	.	.	ENSG00000102409	25475	5	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BEX4_HUMAN	BEX4	HGNC	.	.	UPI0000038D5E	insertion	BEX4,frameshift_variant,p.Arg54AlafsTer3,ENST00000372691,;BEX4,frameshift_variant,p.Arg54AlafsTer3,ENST00000372695,;	389-390	328	420	SUCCESS
ESX1	80712	.	GRCh37	X	103498837	103498837	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	44	141	0	ENST00000372588.4:c.504G>A		p.X168_splice	ENST00000372588	NM_153448.3	168	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS14516.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCGCGCCAC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF286,hmmpanther:PTHR24329,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000361669	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000372588	Transcript	.	.	ENSG00000123576	14865	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESX1_HUMAN	ESX1	HGNC	A6ZIU4_HUMAN,A6ZIT2_HUMAN	.	UPI0000073D09	SNV	ESX1,synonymous_variant,p.%3D,ENST00000372588,;	588	141	150	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	104464092	104464092	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	42	152	0	ENST00000372582.1:c.357-14410G>A		p.*119*	ENST00000372582	NM_017416.1	262		0	.	.	.	.	.	A	Q/*	protein_coding	YES	.	784	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGCCCCC	NONE	.	.	hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF13	.	.	ENSP00000399753	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000413579	Transcript	.	.	ENSG00000133149	11735	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TX13A_HUMAN	TEX13A	HGNC	.	.	UPI0000042200	SNV	TEX13A,stop_gained,p.Gln262Ter,ENST00000413579,;TEX13A,synonymous_variant,p.%3D,ENST00000372578,;TEX13A,synonymous_variant,p.%3D,ENST00000372575,;IL1RAPL2,intron_variant,,ENST00000344799,;IL1RAPL2,intron_variant,,ENST00000372582,;	896	152	156	SUCCESS
COL4A6	1288	.	GRCh37	X	107681619	107681619	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	71	1	ENST00000372216.4:c.15-396G>A		p.*5*	ENST00000372216	NM_001847.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14541.1	.	RADIA|MUTECT|VARSCANS	.	CTCAGCGGTGC	NONE	.	.	.	.	.	ENSP00000361290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372216	Transcript	.	.	ENSG00000197565	2208	.	.	MODIFIER	1/44	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO4A6_HUMAN	COL4A6	HGNC	B4DU54_HUMAN	.	UPI000049E122	SNV	COL4A6,5_prime_UTR_variant,,ENST00000334504,;COL4A6,5_prime_UTR_variant,,ENST00000394872,;COL4A6,intron_variant,,ENST00000372216,;COL4A5,upstream_gene_variant,,ENST00000361603,;COL4A6,upstream_gene_variant,,ENST00000538570,;COL4A5,upstream_gene_variant,,ENST00000328300,;COL4A6,upstream_gene_variant,,ENST00000545689,;COL4A6,non_coding_transcript_exon_variant,,ENST00000461897,;COL4A6,intron_variant,,ENST00000477085,;COL4A5,upstream_gene_variant,,ENST00000477429,;COL4A6,intron_variant,,ENST00000468338,;COL4A5,upstream_gene_variant,,ENST00000470339,;	.	72	71	SUCCESS
TDGF1P3	6998	.	GRCh37	X	109764542	109764542	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	63	0	ENST00000602699.1:n.1003G>T		p.*335*	ENST00000602699				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCGGTCTT	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000602699	Transcript	.	.	ENSG00000225366	11703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TDGF1P3	HGNC	.	.	.	SNV	TDGF1P3,non_coding_transcript_exon_variant,,ENST00000602699,;TDGF1P3,non_coding_transcript_exon_variant,,ENST00000493351,;	1003	63	85	SUCCESS
CAPN6	827	.	GRCh37	X	110491972	110491972	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	52	134	0	ENST00000324068.1:c.1309C>T	p.His437Tyr	p.H437Y	ENST00000324068	NM_014289.3	437	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS14555.1	1309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGTGGAGGC	NONE	.	.	hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF281,Pfam_domain:PF01067,Gene3D:2.60.120.380,SMART_domains:SM00720,Superfamily_domains:SSF49758	.	.	ENSP00000317214	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000324068	Transcript	.	.	ENSG00000077274	1483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.728)	.	deleterious(0)	.	CAN6_HUMAN	CAPN6	HGNC	F5GWQ6_HUMAN	.	UPI0000126EA1	SNV	CAPN6,missense_variant,p.His437Tyr,ENST00000324068,;CAPN6,missense_variant,p.His182Tyr,ENST00000541758,;	1477	134	151	SUCCESS
DCX	1641	.	GRCh37	X	110654044	110654044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	516	25	480	0	ENST00000338081.3:c.159G>T	p.Glu53Asp	p.E53D	ENST00000338081	NM_000555.3	53	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS14556.1	159	MUTECT|MUSE	.	GTTTCCTCACA	NONE	.	.	PIRSF_domain:PIRSF037870	.	.	ENSP00000337697	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000338081	Transcript	.	.	ENSG00000077279	2714	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	DCX_HUMAN	DCX	HGNC	E7EU50_HUMAN	.	UPI000013D33F	SNV	DCX,missense_variant,p.Glu53Asp,ENST00000338081,;DCX,missense_variant,p.Glu45Asp,ENST00000358070,;DCX,intron_variant,,ENST00000371993,;DCX,intron_variant,,ENST00000468911,;DCX,intron_variant,,ENST00000356220,;DCX,intron_variant,,ENST00000488120,;DCX,intron_variant,,ENST00000356915,;DCX,intron_variant,,ENST00000496551,;	331	480	541	SUCCESS
RBMXL3	139804	.	GRCh37	X	114424762	114424762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	7	130	1	ENST00000424776.3:c.758T>C	p.Val253Ala	p.V253A	ENST00000424776	NM_001145346.1	253	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS55478.1	758	MUTECT|MUSE	.	TTTTGTCCCTG	NONE	.	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.68)	.	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Val253Ala,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	800	132	165	SUCCESS
UBE2A	7319	.	GRCh37	X	118708586	118708588	+	5_prime_UTR_variant	5'UTR	DEL	CTC	CTC	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	CTC	CTC	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	84	0	ENST00000371558.2:c.-87_-85del		p.*29*	ENST00000371558	NM_003336.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14580.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCTTCTCCTGCT	NONE	.	.	.	.	.	ENSP00000360613	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000371558	Transcript	.	.	ENSG00000077721	12472	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBE2A_HUMAN	UBE2A	HGNC	Q8WXB3_HUMAN,B4DWT6_HUMAN	.	UPI00000043A0	deletion	UBE2A,5_prime_UTR_variant,,ENST00000371558,;UBE2A,upstream_gene_variant,,ENST00000346330,;UBE2A,upstream_gene_variant,,ENST00000469205,;	86-88	84	117	SUCCESS
MCTS1	28985	.	GRCh37	X	119739358	119739358	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	334	115	373	1	ENST00000371317.5:c.108T>C	p.Ile36=	p.I36=	ENST00000371317	NM_014060.2	36	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS48160.1	111	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTATTGAACC	NONE	.	.	hmmpanther:PTHR22798:SF1,hmmpanther:PTHR22798,PIRSF_domain:PIRSF005067	.	.	ENSP00000360365	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000371315	Transcript	.	.	ENSG00000232119	23357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCTS1_HUMAN	MCTS1	HGNC	.	.	UPI0000211E58	SNV	MCTS1,synonymous_variant,p.%3D,ENST00000371315,;MCTS1,synonymous_variant,p.%3D,ENST00000371317,;MCTS1,non_coding_transcript_exon_variant,,ENST00000487133,;MCTS1,non_coding_transcript_exon_variant,,ENST00000493274,;MCTS1,non_coding_transcript_exon_variant,,ENST00000493879,;	644	374	449	SUCCESS
C1GALT1C1	29071	.	GRCh37	X	119760167	119760167	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	215	102	255	0	ENST00000304661.5:c.855G>C	p.Gln285His	p.Q285H	ENST00000304661	NM_001011551.2	285	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS14602.1	855	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATCTGATT	NONE	.	.	hmmpanther:PTHR23033:SF2,hmmpanther:PTHR23033	.	.	ENSP00000304364	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304661	Transcript	.	.	ENSG00000171155	24338	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.32)	.	C1GLC_HUMAN	C1GALT1C1	HGNC	.	.	UPI000004C659	SNV	C1GALT1C1,missense_variant,p.Gln285His,ENST00000371313,;C1GALT1C1,missense_variant,p.Gln285His,ENST00000304661,;	1094	255	318	SUCCESS
GLUD2	2747	.	GRCh37	X	120181885	120181885	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	411	87	445	0	ENST00000328078.1:c.347T>C	p.Leu116Pro	p.L116P	ENST00000328078	NM_012084.3	116	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS14603.1	347	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGCTGAGTC	NONE	.	.	hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.192.10,Pfam_domain:PF02812,Superfamily_domains:SSF53223	.	.	ENSP00000327589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328078	Transcript	.	.	ENSG00000182890	4336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	DHE4_HUMAN	GLUD2	HGNC	Q9BSD0_HUMAN	.	UPI0000129301	SNV	GLUD2,missense_variant,p.Leu116Pro,ENST00000328078,;	424	445	498	SUCCESS
GRIA3	2892	.	GRCh37	X	122387281	122387281	+	synonymous_variant	Silent	SNP	C	C	T	rs192636764	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	19	100	0	ENST00000541091.1:c.348C>T	p.Asp116=	p.D116=	ENST00000541091		116	gaC/gaT	0	.	T:0	.	T:0.0014	.	T	D	protein_coding	YES	CCDS14604.1	396	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGACGCAGA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151	T:0	.	ENSP00000264357	T:0.001	3/16	.	.	.	.	.	.	.	.	rs192636764	3/16	PASS	ENST00000264357	Transcript	.	T:0.0005	ENSG00000125675	4573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,synonymous_variant,p.%3D,ENST00000371256,;GRIA3,synonymous_variant,p.%3D,ENST00000542149,;GRIA3,synonymous_variant,p.%3D,ENST00000264357,;GRIA3,synonymous_variant,p.%3D,ENST00000541091,;GRIA3,synonymous_variant,p.%3D,ENST00000371251,;GRIA3,non_coding_transcript_exon_variant,,ENST00000479118,;	688	100	93	SUCCESS
STAG2	10735	.	GRCh37	X	123191803	123191803	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	12	111	0	ENST00000218089.9:c.1392G>A	p.Leu464=	p.L464=	ENST00000218089	NM_001042749.1	464	ttG/ttA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS43990.1	1392	RADIA|MUTECT|MUSE|VARSCANS	.	ACATTGGTTTT	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	.	.	ENSP00000218089	.	15/35	.	.	.	.	.	.	.	.	.	15/35	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	SNV	STAG2,synonymous_variant,p.%3D,ENST00000371160,;STAG2,synonymous_variant,p.%3D,ENST00000354548,;STAG2,synonymous_variant,p.%3D,ENST00000371157,;STAG2,synonymous_variant,p.%3D,ENST00000371144,;STAG2,synonymous_variant,p.%3D,ENST00000455404,;STAG2,synonymous_variant,p.%3D,ENST00000218089,;STAG2,synonymous_variant,p.%3D,ENST00000371145,;STAG2,non_coding_transcript_exon_variant,,ENST00000483575,;STAG2,non_coding_transcript_exon_variant,,ENST00000466748,;STAG2,non_coding_transcript_exon_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;	1902	111	118	SUCCESS
TENM1	10178	.	GRCh37	X	123517731	123517731	+	synonymous_variant	Silent	SNP	G	G	A	rs774343710	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	24	170	0	ENST00000371130.3:c.7029C>T	p.Gly2343=	p.G2343=	ENST00000371130	NM_014253.3	2343	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS55488.1	7050	RADIA|MUTECT|MUSE|VARSCANS	.	ATATCGCCATA	NONE	byFrequency	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	30/32	.	.	.	.	.	.	.	.	rs774343710	30/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,synonymous_variant,p.%3D,ENST00000422452,;TENM1,synonymous_variant,p.%3D,ENST00000371130,;STAG2,intron_variant,,ENST00000469481,;	7114	170	202	SUCCESS
DCAF12L1	139170	.	GRCh37	X	125686153	125686153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	9	208	0	ENST00000371126.1:c.439C>A	p.Gln147Lys	p.Q147K	ENST00000371126	NM_178470.4	147	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS14610.1	439	MUTECT|MUSE	.	CTGTTGGTCCT	NONE	.	.	hmmpanther:PTHR19860:SF9,hmmpanther:PTHR19860,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000360167	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000371126	Transcript	.	.	ENSG00000198889	29395	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	deleterious(0.03)	.	DC121_HUMAN	DCAF12L1	HGNC	.	.	UPI0000160112	SNV	DCAF12L1,missense_variant,p.Gln147Lys,ENST00000371126,;	682	208	223	SUCCESS
OCRL	4952	.	GRCh37	X	128701327	128701327	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1441211795	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	333	148	438	0	ENST00000371113.4:c.1453C>T	p.Arg485Trp	p.R485W	ENST00000371113	NM_000276.3	485	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS35393.1	1453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCGGTGG	NONE	.	.	hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	.	.	ENSP00000360154	.	14/24	.	.	.	.	.	.	.	.	.	14/24	PASS	ENST00000371113	Transcript	.	.	ENSG00000122126	8108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	OCRL_HUMAN	OCRL	HGNC	.	.	UPI0000167B0B	SNV	OCRL,missense_variant,p.Arg485Trp,ENST00000371113,;OCRL,missense_variant,p.Arg485Trp,ENST00000357121,;	1618	438	481	SUCCESS
BCORL1	63035	.	GRCh37	X	129185869	129185869	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	181	8	183	0	ENST00000218147.7:c.4731T>C	p.His1577=	p.H1577=	ENST00000218147		1577	caT/caC	0	.	.	.	.	.	C	H	protein_coding	YES	CCDS14616.1	4731	MUTECT|MUSE	.	CTACATAATCC	NONE	.	.	hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	.	.	ENSP00000437775	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000540052	Transcript	.	.	ENSG00000085185	25657	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCORL_HUMAN	BCORL1	HGNC	Q9HAM3_HUMAN	.	UPI00001B4EFB	SNV	BCORL1,synonymous_variant,p.%3D,ENST00000456822,;BCORL1,synonymous_variant,p.%3D,ENST00000540052,;BCORL1,synonymous_variant,p.%3D,ENST00000303743,;BCORL1,synonymous_variant,p.%3D,ENST00000218147,;BCORL1,synonymous_variant,p.%3D,ENST00000359304,;	4775	183	189	SUCCESS
ENOX2	10495	.	GRCh37	X	129759306	129759306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	275	12	284	0	ENST00000338144.3:c.1815G>T	p.Glu605Asp	p.E605D	ENST00000338144	NM_182314.1	605	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS14626.1	1815	MUTECT|MUSE	.	AAGCCCTCGAA	NONE	.	.	hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF7	.	.	ENSP00000337146	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000338144	Transcript	.	.	ENSG00000165675	2259	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.62)	.	ENOX2_HUMAN	ENOX2	HGNC	B1AKF7_HUMAN	.	UPI00000729D5	SNV	ENOX2,missense_variant,p.Glu605Asp,ENST00000370927,;ENOX2,missense_variant,p.Glu605Asp,ENST00000338144,;ENOX2,missense_variant,p.Glu576Asp,ENST00000394363,;ENOX2,missense_variant,p.Glu576Asp,ENST00000370935,;	2233	284	287	SUCCESS
TFDP3	51270	.	GRCh37	X	132352255	132352255	+	synonymous_variant	Silent	SNP	G	G	A	rs756060230	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	81	243	0	ENST00000310125.4:c.33C>T	p.Asn11=	p.N11=	ENST00000310125	NM_016521.2	11	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS14636.2	33	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGTTAGC	NONE	.	.	hmmpanther:PTHR12548,hmmpanther:PTHR12548:SF13,PIRSF_domain:PIRSF009404	.	.	ENSP00000385461	.	1/1	.	.	.	.	.	.	.	.	rs756060230	1/1	PASS	ENST00000310125	Transcript	.	.	ENSG00000183434	24603	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFDP3_HUMAN	TFDP3	HGNC	.	.	UPI0000212570	SNV	TFDP3,synonymous_variant,p.%3D,ENST00000310125,;	122	243	250	SUCCESS
SAGE1	55511	.	GRCh37	X	134987456	134987456	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	11	98	0	ENST00000324447.3:c.359G>A	p.Gly120Asp	p.G120D	ENST00000324447		120	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS14652.1	359	RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGCCAAT	NONE	.	.	hmmpanther:PTHR12957:SF7,hmmpanther:PTHR12957	.	.	ENSP00000445959	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000535938	Transcript	.	.	ENSG00000181433	30369	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.093)	.	tolerated(0.27)	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,missense_variant,p.Gly120Asp,ENST00000370709,;SAGE1,missense_variant,p.Gly120Asp,ENST00000535938,;SAGE1,missense_variant,p.Gly120Asp,ENST00000537770,;SAGE1,missense_variant,p.Gly120Asp,ENST00000324447,;	526	98	98	SUCCESS
GPR112	0	.	GRCh37	X	135431189	135431189	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	85	271	0	ENST00000370652.1:c.5324A>G	p.Lys1775Arg	p.K1775R	ENST00000370652		1775	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS35409.1	5324	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAAGAGTG	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	.	deleterious(0.01)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Lys1712Arg,ENST00000287534,;GPR112,missense_variant,p.Lys1775Arg,ENST00000370652,;GPR112,missense_variant,p.Lys1775Arg,ENST00000394143,;GPR112,missense_variant,p.Lys1570Arg,ENST00000394141,;GPR112,missense_variant,p.Lys1570Arg,ENST00000412101,;	5615	271	313	SUCCESS
ZIC3	7547	.	GRCh37	X	136648912	136648912	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	13	108	0	ENST00000287538.5:c.62C>T	p.Ala21Val	p.A21V	ENST00000287538	NM_003413.3	21	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14663.1	62	MUTECT|MUSE|VARSCANS	.	CGGCGCGCCGC	NONE	.	.	hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF25	.	.	ENSP00000287538	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000287538	Transcript	.	.	ENSG00000156925	12874	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.057)	.	tolerated_low_confidence(0.1)	.	ZIC3_HUMAN	ZIC3	HGNC	.	.	UPI000013C3DD	SNV	ZIC3,missense_variant,p.Ala21Val,ENST00000287538,;ZIC3,missense_variant,p.Ala21Val,ENST00000370606,;RP1-137H15.2,upstream_gene_variant,,ENST00000442841,;RP1-137H15.2,upstream_gene_variant,,ENST00000456631,;ZIC3,upstream_gene_variant,,ENST00000478471,;	612	108	133	SUCCESS
SOX3	6658	.	GRCh37	X	139586440	139586440	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	135	18	142	0	ENST00000370536.2:c.786G>A	p.Thr262=	p.T262=	ENST00000370536	NM_005634.2	262	acG/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS14669.1	786	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGCGTGTA	NONE	.	.	hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111,Pfam_domain:PF12336	.	.	ENSP00000359567	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370536	Transcript	.	.	ENSG00000134595	11199	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX3_HUMAN	SOX3	HGNC	.	.	UPI000006F00F	SNV	SOX3,synonymous_variant,p.%3D,ENST00000370536,;	786	142	153	SUCCESS
SLITRK4	139065	.	GRCh37	X	142717165	142717165	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1292818470	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	17	127	0	ENST00000338017.4:c.1760C>T	p.Pro587Leu	p.P587L	ENST00000338017		587	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS14679.1	1760	RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGCTTA	NONE	.	.	hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.557)	.	tolerated(0.17)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Pro587Leu,ENST00000381779,;SLITRK4,missense_variant,p.Pro587Leu,ENST00000338017,;SLITRK4,missense_variant,p.Pro587Leu,ENST00000356928,;	1986	127	160	SUCCESS
IL3RA	3563	.	GRCh37	X	1484120	1484120	+	synonymous_variant	Silent	SNP	C	C	T	rs746729235	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	15	234	0	ENST00000331035.4:c.849C>T	p.Ser283=	p.S283=	ENST00000331035	NM_002183.3	283	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14113.1	849	MUTECT|MUSE	.	TTGAGCGCCTG	NONE	.	.	hmmpanther:PTHR23036:SF77,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000327890	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000331035	Transcript	.	.	ENSG00000185291	6012	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL3RA_HUMAN	IL3RA	HGNC	Q9UEH7_HUMAN	.	UPI0000001C31	SNV	IL3RA,synonymous_variant,p.%3D,ENST00000381469,;IL3RA,synonymous_variant,p.%3D,ENST00000331035,;	1198	234	260	SUCCESS
MTMR1	8776	.	GRCh37	X	149931129	149931129	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200100741	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	48	143	0	ENST00000370390.3:c.1925G>A	p.Arg642His	p.R642H	ENST00000370390	NM_003828.2	642	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS14695.1	1925	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCGCGCCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10807:SF40,hmmpanther:PTHR10807	.	.	ENSP00000440534	.	15/15	.	.	.	.	.	.	.	.	rs200100741	15/15	PASS	ENST00000544228	Transcript	.	.	ENSG00000063601	7449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.066)	.	tolerated(0.14)	.	MTMR1_HUMAN	MTMR1	HGNC	F8W8S8_HUMAN,F8W764_HUMAN,E9PIH9_HUMAN,B7Z3D5_HUMAN	.	UPI0000167F8A	SNV	MTMR1,missense_variant,p.Arg548His,ENST00000541925,;MTMR1,missense_variant,p.Arg642His,ENST00000544228,;MTMR1,missense_variant,p.Arg642His,ENST00000370390,;MTMR1,missense_variant,p.Arg650His,ENST00000445323,;MTMR1,intron_variant,,ENST00000538506,;CD99L2,downstream_gene_variant,,ENST00000437787,;CD99L2,downstream_gene_variant,,ENST00000355149,;CD99L2,downstream_gene_variant,,ENST00000370377,;CD99L2,downstream_gene_variant,,ENST00000346693,;MTMR1,3_prime_UTR_variant,,ENST00000485376,;MTMR1,intron_variant,,ENST00000488357,;	2046	143	162	SUCCESS
WASH6P	653440	.	GRCh37	X	155255051	155255051	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	6	216	0	ENST00000461007.1:n.3967A>G		p.*1323*	ENST00000461007				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CCATGACACCT	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000461007	Transcript	.	.	ENSG00000182484	31685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	WASH6P	HGNC	.	.	.	SNV	WASH6P,non_coding_transcript_exon_variant,,ENST00000340131,;AJ271736.10,non_coding_transcript_exon_variant,,ENST00000285718,;WASH6P,non_coding_transcript_exon_variant,,ENST00000464205,;WASH6P,non_coding_transcript_exon_variant,,ENST00000484415,;WASH6P,non_coding_transcript_exon_variant,,ENST00000492963,;WASH6P,non_coding_transcript_exon_variant,,ENST00000461007,;WASH6P,non_coding_transcript_exon_variant,,ENST00000483286,;WASH6P,non_coding_transcript_exon_variant,,ENST00000460206,;WASH6P,non_coding_transcript_exon_variant,,ENST00000496301,;WASH6P,downstream_gene_variant,,ENST00000476066,;WASH6P,downstream_gene_variant,,ENST00000475594,;WASH6P,downstream_gene_variant,,ENST00000482170,;WASH6P,downstream_gene_variant,,ENST00000469624,;WASH6P,downstream_gene_variant,,ENST00000479401,;WASH6P,downstream_gene_variant,,ENST00000496011,;WASH6P,downstream_gene_variant,,ENST00000483079,;AJ271736.10,downstream_gene_variant,,ENST00000483543,;DDX11L16,downstream_gene_variant,,ENST00000445777,;DDX11L16,downstream_gene_variant,,ENST00000507418,;WASH6P,downstream_gene_variant,,ENST00000359512,;	3967	216	137	SUCCESS
CA5B	11238	.	GRCh37	X	15794875	15794875	+	synonymous_variant	Silent	SNP	C	C	T	rs751204543	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	38	110	1	ENST00000318636.3:c.657C>T	p.Cys219=	p.C219=	ENST00000318636	NM_007220.3	219	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS14171.1	657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCTGAT	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF25,hmmpanther:PTHR18952,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000314099	.	7/8	.	.	.	.	.	.	.	.	rs751204543	7/8	PASS	ENST00000318636	Transcript	.	.	ENSG00000169239	1378	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH5B_HUMAN	CA5B	HGNC	C9JA11_HUMAN,C9IZP3_HUMAN	.	UPI0000126D58	SNV	CA5B,synonymous_variant,p.%3D,ENST00000318636,;CA5B,synonymous_variant,p.%3D,ENST00000454127,;CA5B,downstream_gene_variant,,ENST00000479740,;CA5B,downstream_gene_variant,,ENST00000496188,;	793	111	104	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20252897	20252897	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	232	32	259	1	ENST00000379565.3:c.105G>A	p.Glu35=	p.E35=	ENST00000379565	NM_004586.2	35	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS14197.1	105	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTCCTCTCC	NONE	.	.	hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,PIRSF_domain:PIRSF000606	.	.	ENSP00000368884	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,synonymous_variant,p.%3D,ENST00000379565,;RPS6KA3,synonymous_variant,p.%3D,ENST00000438357,;RPS6KA3,synonymous_variant,p.%3D,ENST00000540702,;RPS6KA3,synonymous_variant,p.%3D,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;	313	261	264	SUCCESS
FAM47A	158724	.	GRCh37	X	34149344	34149344	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758963950	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	25	124	0	ENST00000346193.3:c.1052G>A	p.Arg351His	p.R351H	ENST00000346193	NM_203408.3	351	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43926.1	1052	RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCGGAGA	NONE	byFrequency	.	hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	rs758963950	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.85)	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,missense_variant,p.Arg351His,ENST00000346193,;	1104	124	145	SUCCESS
CHDC2	0	.	GRCh37	X	36122660	36122660	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	393	62	509	1	ENST00000313548.4:c.897G>C	p.Met299Ile	p.M299I	ENST00000313548	NM_173695.2	299	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS14238.1	897	RADIA|VARSCANS	.	AATATGCCCCC	NONE	.	.	hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4	.	.	ENSP00000324767	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000313548	Transcript	.	.	ENSG00000176034	26708	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	tolerated(0.23)	.	CHDC2_HUMAN	CHDC2	HGNC	.	.	UPI000006F5CD	SNV	CHDC2,missense_variant,p.Met299Ile,ENST00000313548,;CHDC2,missense_variant,p.Met475Ile,ENST00000378660,;	1083	511	455	SUCCESS
NDUFB11	54539	.	GRCh37	X	47004153	47004153	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	20	0	ENST00000377811.3:c.-75C>T		p.*25*	ENST00000377811	NM_001135998.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14273.1	.	MUTECT|MUSE	.	AGCGCGACAAT	NONE	.	.	.	.	.	ENSP00000276062	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000276062	Transcript	.	.	ENSG00000147123	20372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUBB_HUMAN	NDUFB11	HGNC	.	.	UPI0000072489	SNV	NDUFB11,5_prime_UTR_variant,,ENST00000276062,;NDUFB11,5_prime_UTR_variant,,ENST00000377811,;RBM10,upstream_gene_variant,,ENST00000329236,;RBM10,upstream_gene_variant,,ENST00000377604,;RBM10,upstream_gene_variant,,ENST00000345781,;	285	20	22	SUCCESS
TIMP1	7076	.	GRCh37	X	47444965	47444965	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	43	219	0	ENST00000218388.4:c.352C>T	p.His118Tyr	p.H118Y	ENST00000218388	NM_003254.2	118	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS14281.1	352	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCACATC	NONE	.	.	PROSITE_profiles:PS50189,hmmpanther:PTHR11844:SF20,hmmpanther:PTHR11844,Gene3D:2.40.50.120,Pfam_domain:PF00965,SMART_domains:SM00206,Superfamily_domains:SSF50242	.	.	ENSP00000218388	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000218388	Transcript	.	.	ENSG00000102265	11820	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	tolerated(0.81)	.	TIMP1_HUMAN	TIMP1	HGNC	Q6FGX5_HUMAN,Q5H9A7_HUMAN	.	UPI00001135B1	SNV	TIMP1,missense_variant,p.His54Tyr,ENST00000377017,;TIMP1,missense_variant,p.His76Tyr,ENST00000445623,;TIMP1,missense_variant,p.His112Tyr,ENST00000377018,;TIMP1,missense_variant,p.His118Tyr,ENST00000218388,;TIMP1,3_prime_UTR_variant,,ENST00000456754,;SYN1,intron_variant,,ENST00000340666,;SYN1,intron_variant,,ENST00000295987,;TIMP1,downstream_gene_variant,,ENST00000441738,;MIR4769,upstream_gene_variant,,ENST00000584126,;	522	219	221	SUCCESS
WAS	7454	.	GRCh37	X	48547405	48547405	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1242	49	1167	1	ENST00000376701.4:c.1288G>T	p.Gly430Cys	p.G430C	ENST00000376701	NM_000377.2	430	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS14303.1	1288	MUTECT|MUSE	.	GTGGGGGTCGG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51082,hmmpanther:PTHR12779:SF2,hmmpanther:PTHR12779,Pfam_domain:PF02205,SMART_domains:SM00246,Superfamily_domains:0037032	.	.	ENSP00000365891	.	10/12	.	.	.	.	.	.	.	.	CD107125	10/12	PASS	ENST00000376701	Transcript	.	.	ENSG00000015285	12731	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	deleterious(0)	.	WASP_HUMAN	WAS	HGNC	C9J3B7_HUMAN	.	UPI000003CA0A	SNV	WAS,missense_variant,p.Gly430Cys,ENST00000376701,;WAS,downstream_gene_variant,,ENST00000450772,;WAS,downstream_gene_variant,,ENST00000490627,;WAS,downstream_gene_variant,,ENST00000465982,;WAS,upstream_gene_variant,,ENST00000470107,;WAS,downstream_gene_variant,,ENST00000483750,;WAS,downstream_gene_variant,,ENST00000474174,;	1363	1168	1292	SUCCESS
GRIPAP1	56850	.	GRCh37	X	48847397	48847397	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	44	159	0	ENST00000376423.4:c.424A>G	p.Lys142Glu	p.K142E	ENST00000376423	NM_207672.1	142	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS35248.1	583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTTCAGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18978:SF1,hmmpanther:PTHR18978	.	.	ENSP00000365624	.	7/26	.	.	.	.	.	.	.	.	.	7/26	PASS	ENST00000376441	Transcript	.	.	ENSG00000068400	18706	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.858)	.	.	.	GRAP1_HUMAN	GRIPAP1	HGNC	.	.	UPI000035AC76	SNV	GRIPAP1,missense_variant,p.Lys142Glu,ENST00000376423,;GRIPAP1,missense_variant,p.Lys195Glu,ENST00000376441,;GRIPAP1,missense_variant,p.Lys195Glu,ENST00000376425,;GRIPAP1,missense_variant,p.Lys150Glu,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,upstream_gene_variant,,ENST00000474512,;	618	159	164	SUCCESS
MAGIX	79917	.	GRCh37	X	49020517	49020517	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	14	0	ENST00000412696.2:c.196+250C>T		p.*66*	ENST00000412696	NM_024859.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48106.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGCGGCGG	NONE	.	.	.	.	.	ENSP00000387928	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412696	Transcript	.	.	ENSG00000017621	30006	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGIX_HUMAN	MAGIX	HGNC	.	.	UPI00018132AC	SNV	MAGIX,intron_variant,,ENST00000425285,;MAGIX,intron_variant,,ENST00000376338,;MAGIX,intron_variant,,ENST00000415364,;MAGIX,intron_variant,,ENST00000412696,;MAGIX,intron_variant,,ENST00000458388,;MAGIX,intron_variant,,ENST00000425661,;MAGIX,intron_variant,,ENST00000376339,;MAGIX,upstream_gene_variant,,ENST00000454342,;MAGIX,non_coding_transcript_exon_variant,,ENST00000498742,;	.	14	22	SUCCESS
CACNA1F	778	.	GRCh37	X	49082873	49082873	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	71	0	ENST00000376265.2:c.1494C>T		p.X498_splice	ENST00000376265	NM_005183.2	498	tgC/tgT	0	.	.	.	.	.	A	C	protein_coding	YES	CCDS35253.1	1494	MUTECT|MUSE	.	CACAGGCAGCG	NONE	.	.	hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037	.	.	ENSP00000365441	.	11/48	.	.	.	.	.	.	.	.	.	11/48	PASS	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,synonymous_variant,p.%3D,ENST00000376251,;CACNA1F,synonymous_variant,p.%3D,ENST00000376265,;CACNA1F,synonymous_variant,p.%3D,ENST00000323022,;CACNA1F,upstream_gene_variant,,ENST00000480889,;	1556	71	81	SUCCESS
HEPH	9843	.	GRCh37	X	65483530	65483530	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	74	221	0	ENST00000343002.2:c.3244G>A	p.Ala1082Thr	p.A1082T	ENST00000343002		1082	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS14384.3	3406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGGTACG	NONE	.	.	hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127	.	.	ENSP00000430620	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000519389	Transcript	.	.	ENSG00000089472	4866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.28)	.	HEPH_HUMAN	HEPH	HGNC	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN	.	UPI0001C06560	SNV	HEPH,missense_variant,p.Ala1082Thr,ENST00000343002,;HEPH,missense_variant,p.Ala1136Thr,ENST00000519389,;HEPH,missense_variant,p.Val1085Met,ENST00000441993,;HEPH,missense_variant,p.Ala1085Thr,ENST00000374727,;HEPH,missense_variant,p.Ala893Thr,ENST00000419594,;HEPH,missense_variant,p.Ala815Thr,ENST00000336279,;	3585	221	264	SUCCESS
HDX	139324	.	GRCh37	X	83723918	83723918	+	synonymous_variant	Silent	SNP	G	G	A	rs755004554	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	34	160	0	ENST00000297977.5:c.813C>T	p.Ser271=	p.S271=	ENST00000297977	NM_001177479.1	271	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS35342.1	813	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATCGCTAAC	NONE	byFrequency	.	hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636	.	.	ENSP00000297977	.	3/10	.	.	.	.	.	.	.	.	rs755004554	3/10	PASS	ENST00000297977	Transcript	.	.	ENSG00000165259	26411	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDX_HUMAN	HDX	HGNC	E2QRN0_HUMAN	.	UPI00001A9DA4	SNV	HDX,synonymous_variant,p.%3D,ENST00000506585,;HDX,synonymous_variant,p.%3D,ENST00000373177,;HDX,synonymous_variant,p.%3D,ENST00000297977,;HDX,downstream_gene_variant,,ENST00000449553,;HDX,non_coding_transcript_exon_variant,,ENST00000472135,;	925	160	153	SUCCESS
FAM9A	171482	.	GRCh37	X	8763403	8763403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs764416645	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	26	80	0	ENST00000381003.3:c.547G>A	p.Ala183Thr	p.A183T	ENST00000381003	NM_174951.3	183	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS14131.1	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGCGATGT	NONE	byFrequency	.	hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF2	.	.	ENSP00000440163	.	7/10	.	.	.	.	.	.	.	.	rs764416645	7/10	PASS	ENST00000543214	Transcript	.	.	ENSG00000183304	18403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	tolerated_low_confidence(0.82)	.	FAM9A_HUMAN	FAM9A	HGNC	.	.	UPI000012A418	SNV	FAM9A,missense_variant,p.Ala183Thr,ENST00000543214,;FAM9A,missense_variant,p.Ala183Thr,ENST00000381003,;	683	80	75	SUCCESS
ATRNL1	26033	.	GRCh37	10	117278802	117278802	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	37	95	0	ENST00000355044.3:c.3684G>A	p.Met1228Ile	p.M1228I	ENST00000355044	NM_207303.2	1228	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS7592.1	3684	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATGGACCT	NONE	.	.	hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224	.	.	ENSP00000347152	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.852)	.	deleterious(0.03)	.	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,missense_variant,p.Met279Ile,ENST00000423111,;ATRNL1,missense_variant,p.Met1228Ile,ENST00000355044,;ATRNL1,missense_variant,p.Met21Ile,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000424738,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	3810	95	86	SUCCESS
FOXI2	399823	.	GRCh37	10	129537185	129537185	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	59	0	ENST00000388920.4:c.913C>T	p.Arg305Cys	p.R305C	ENST00000388920	NM_207426.2	305	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS7655.2	913	MUTECT|MUSE	.	GCTTCCGCCTC	NONE	.	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF137	.	.	ENSP00000373572	.	2/2	.	.	.	.	.	.	.	.	COSM684052,COSM1146414	2/2	PASS	ENST00000388920	Transcript	.	.	ENSG00000186766	32448	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.041)	.	deleterious(0.01)	1,1	FOXI2_HUMAN	FOXI2	HGNC	C4IXT1_HUMAN	.	UPI0000253B9D	SNV	FOXI2,missense_variant,p.Arg305Cys,ENST00000388920,;AL391005.1,upstream_gene_variant,,ENST00000341742,;	952	59	67	SUCCESS
MUC6	4588	.	GRCh37	11	1031883	1031883	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756600864	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	59	0	ENST00000421673.2:c.286C>T	p.Arg96Trp	p.R96W	ENST00000421673	NM_005961.2	96	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS44513.1	286	RADIA|MUTECT|MUSE|VARSCANS	.	GATCCGCGAGA	NONE	byFrequency	.	SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,PROSITE_profiles:PS51233	.	.	ENSP00000406861	.	3/33	.	.	.	.	.	.	.	.	rs756600864	3/33	PASS	ENST00000421673	Transcript	.	.	ENSG00000184956	7517	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	MUC6_HUMAN	MUC6	HGNC	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN	.	UPI0000251DBE	SNV	MUC6,missense_variant,p.Arg96Trp,ENST00000421673,;MUC6,missense_variant,p.Arg120Trp,ENST00000525923,;	337	59	69	SUCCESS
MUC5B	727897	.	GRCh37	11	1251007	1251007	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	38	0	ENST00000529681.1:c.1190G>A	p.Gly397Asp	p.G397D	ENST00000529681	NM_002458.2	397	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS44515.2	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGCACCT	NONE	.	.	hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Gene3D:2.10.25.10,SMART_domains:SM00215,SMART_domains:SM00214,Superfamily_domains:SSF57603	.	.	ENSP00000436812	.	10/49	.	.	.	.	.	.	.	.	.	10/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,missense_variant,p.Gly397Asp,ENST00000529681,;MUC5B,missense_variant,p.Gly400Asp,ENST00000447027,;MUC5B,downstream_gene_variant,,ENST00000531082,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	1248	38	38	SUCCESS
NCAPD3	23310	.	GRCh37	11	134028290	134028290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	79	0	ENST00000534548.2:c.3968G>T	p.Gly1323Val	p.G1323V	ENST00000534548	NM_015261.2	1323	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31723.1	3968	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCCAGCA	NONE	.	.	PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222	.	.	ENSP00000433681	.	30/35	.	.	.	.	.	.	.	.	.	30/35	PASS	ENST00000534548	Transcript	.	.	ENSG00000151503	28952	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.051)	.	tolerated(0.13)	.	CNDD3_HUMAN	NCAPD3	HGNC	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN	.	UPI00001C1EFE	SNV	NCAPD3,missense_variant,p.Gly1323Val,ENST00000534548,;NCAPD3,downstream_gene_variant,,ENST00000530396,;NCAPD3,downstream_gene_variant,,ENST00000527944,;NCAPD3,upstream_gene_variant,,ENST00000526787,;NCAPD3,3_prime_UTR_variant,,ENST00000525964,;NCAPD3,3_prime_UTR_variant,,ENST00000534532,;NCAPD3,upstream_gene_variant,,ENST00000525432,;	4033	79	48	SUCCESS
OR51B6	390058	.	GRCh37	11	5372807	5372807	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	4	110	0	ENST00000380219.1:c.70T>A	p.Trp24Arg	p.W24R	ENST00000380219	NM_001004750.1	24	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS31379.1	70	MUTECT|MUSE	.	ATCACTGGATA	BUFFER|p.K20K|c.60G>A|3	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF22,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000369568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380219	Transcript	.	.	ENSG00000176239	19600	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.112)	.	deleterious(0)	.	O51B6_HUMAN	OR51B6	HGNC	.	.	UPI000014017D	SNV	OR51B6,missense_variant,p.Trp24Arg,ENST00000380219,;HBE1,intron_variant,,ENST00000396895,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380259,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.31,upstream_gene_variant,,ENST00000450768,;	70	110	95	SUCCESS
TCIRG1	10312	.	GRCh37	11	67815394	67815394	+	synonymous_variant	Silent	SNP	C	C	T	rs754235952	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	127	0	ENST00000265686.3:c.1509C>T	p.Asn503=	p.N503=	ENST00000265686	NM_006019.3	503	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS8177.1	1509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAACGTCAC	NONE	byFrequency	.	hmmpanther:PTHR11629:SF21,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293	.	.	ENSP00000265686	.	13/20	.	.	.	.	.	.	.	.	rs754235952	13/20	PASS	ENST00000265686	Transcript	.	.	ENSG00000110719	11647	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPP3_HUMAN	TCIRG1	HGNC	Q6QBN6_HUMAN,E9PM12_HUMAN	.	UPI000006EC9A	SNV	TCIRG1,synonymous_variant,p.%3D,ENST00000532635,;TCIRG1,synonymous_variant,p.%3D,ENST00000265686,;TCIRG1,downstream_gene_variant,,ENST00000524598,;TCIRG1,downstream_gene_variant,,ENST00000529364,;CHKA,downstream_gene_variant,,ENST00000265689,;TCIRG1,upstream_gene_variant,,ENST00000530063,;TCIRG1,downstream_gene_variant,,ENST00000529657,;RP11-802E16.3,upstream_gene_variant,,ENST00000526897,;RP11-802E16.3,upstream_gene_variant,,ENST00000529934,;RP11-802E16.3,upstream_gene_variant,,ENST00000534517,;TCIRG1,upstream_gene_variant,,ENST00000530802,;TCIRG1,3_prime_UTR_variant,,ENST00000528981,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000525724,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000533005,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000525516,;TCIRG1,downstream_gene_variant,,ENST00000533947,;TCIRG1,downstream_gene_variant,,ENST00000527530,;TCIRG1,upstream_gene_variant,,ENST00000524870,;TCIRG1,downstream_gene_variant,,ENST00000534673,;TCIRG1,upstream_gene_variant,,ENST00000530449,;	1617	127	106	SUCCESS
CCDC60	160777	.	GRCh37	12	119978493	119978493	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	68	0	ENST00000327554.2:c.1626C>T	p.Pro542=	p.P542=	ENST00000327554	NM_178499.3	542	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9190.1	1626	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCCATTGG	NONE	.	.	.	.	.	ENSP00000333374	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000327554	Transcript	.	.	ENSG00000183273	28610	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD60_HUMAN	CCDC60	HGNC	F5H5H4_HUMAN	.	UPI000019906E	SNV	CCDC60,synonymous_variant,p.%3D,ENST00000327554,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;	2091	68	51	SUCCESS
OR6C4	341418	.	GRCh37	12	55945602	55945602	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	112	0	ENST00000394256.2:c.592A>G	p.Ile198Val	p.I198V	ENST00000394256	NM_001005494.1	198	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31827.1	592	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCATCCTC	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,PROSITE_profiles:PS50262,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000377799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394256	Transcript	.	.	ENSG00000179626	19632	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	deleterious_low_confidence(0.02)	.	OR6C4_HUMAN	OR6C4	HGNC	.	.	UPI000004A282	SNV	OR6C4,missense_variant,p.Ile198Val,ENST00000394256,;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	620	113	94	SUCCESS
IL23A	51561	.	GRCh37	12	56732734	56732734	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	39	0	ENST00000228534.4:c.-95G>A		p.*32*	ENST00000228534	NM_016584.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8916.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGAGAAT	NONE	.	.	.	.	.	ENSP00000228534	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000228534	Transcript	.	.	ENSG00000110944	15488	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL23A_HUMAN	IL23A	HGNC	.	.	UPI0000034E42	SNV	IL23A,5_prime_UTR_variant,,ENST00000228534,;STAT2,downstream_gene_variant,,ENST00000557235,;STAT2,downstream_gene_variant,,ENST00000314128,;PAN2,upstream_gene_variant,,ENST00000440411,;PAN2,upstream_gene_variant,,ENST00000257931,;PAN2,upstream_gene_variant,,ENST00000547572,;STAT2,downstream_gene_variant,,ENST00000556539,;PAN2,upstream_gene_variant,,ENST00000549964,;	72	39	41	SUCCESS
NAB2	4665	.	GRCh37	12	57482915	57482915	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	49	0	ENST00000300131.3:c.-140T>G		p.*47*	ENST00000300131	NM_005967.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8930.1	.	MUTECT|MUSE	.	GAGGCTCGGAG	NONE	.	.	.	.	.	ENSP00000300131	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000300131	Transcript	.	.	ENSG00000166886	7627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAB2_HUMAN	NAB2	HGNC	.	.	UPI000012FC41	SNV	NAB2,5_prime_UTR_variant,,ENST00000342556,;NAB2,5_prime_UTR_variant,,ENST00000300131,;NAB2,5_prime_UTR_variant,,ENST00000357680,;NAB2,non_coding_transcript_exon_variant,,ENST00000555857,;TMEM194A,upstream_gene_variant,,ENST00000553654,;NAB2,upstream_gene_variant,,ENST00000554718,;NAB2,upstream_gene_variant,,ENST00000554839,;	239	50	37	SUCCESS
CSNK1A1L	122011	.	GRCh37	13	37679333	37679333	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs56158728	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	11	92	0	ENST00000379800.3:c.61C>T	p.Arg21Trp	p.R21W	ENST00000379800	NM_145203.5	21	Cgg/Tgg	0	.	A:0	.	A:0	.	A	R/W	protein_coding	YES	CCDS9363.1	61	RADIA|MUSE|VARSCANS	.	CTTCCGCACCA	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	A:0.0169	.	ENSP00000369126	A:0	1/1	.	.	.	.	.	.	.	.	rs56158728,COSM696638	1/1	common_in_exac	ENST00000379800	Transcript	.	A:0.0036	ENSG00000180138	20289	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	benign(0.171)	A:0.001	deleterious_low_confidence(0)	0,1	KC1AL_HUMAN	CSNK1A1L	HGNC	.	.	UPI000003C95C	SNV	CSNK1A1L,missense_variant,p.Arg21Trp,ENST00000379800,;	471	92	67	SUCCESS
COG3	83548	.	GRCh37	13	46085912	46085912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	8	76	0	ENST00000349995.5:c.1732C>A	p.Gln578Lys	p.Q578K	ENST00000349995	NM_031431.3	578	Caa/Aaa	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS9398.1	1732	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCCAAGGA	NONE	.	.	hmmpanther:PTHR13302	.	.	ENSP00000258654	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000349995	Transcript	.	.	ENSG00000136152	18619	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.124)	.	deleterious(0)	.	COG3_HUMAN	COG3	HGNC	.	.	UPI0000366968	SNV	COG3,missense_variant,p.Gln578Lys,ENST00000349995,;COG3,non_coding_transcript_exon_variant,,ENST00000465942,;COG3,upstream_gene_variant,,ENST00000486940,;	1844	76	77	SUCCESS
FAM179B	0	.	GRCh37	14	45496671	45496671	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	34	201	0	ENST00000361577.3:c.3498A>G	p.Glu1166=	p.E1166=	ENST00000361577	NM_015091.2	1166	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS9681.1	3498	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAAAAGA	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	9/19	.	.	.	.	.	.	.	.	.	9/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,synonymous_variant,p.%3D,ENST00000361577,;FAM179B,synonymous_variant,p.%3D,ENST00000361462,;FAM179B,3_prime_UTR_variant,,ENST00000382233,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000556105,;FAM179B,downstream_gene_variant,,ENST00000555586,;	3712	201	155	SUCCESS
ZFP36L1	677	.	GRCh37	14	69256295	69256295	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	10	99	0	ENST00000336440.3:c.972A>C	p.Ser324=	p.S324=	ENST00000336440		324	tcA/tcC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS9791.1	972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCTTGAGTT	NONE	.	.	hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF53	.	.	ENSP00000388402	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,synonymous_variant,p.%3D,ENST00000336440,;ZFP36L1,synonymous_variant,p.%3D,ENST00000439696,;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,;ZFP36L1,downstream_gene_variant,,ENST00000557022,;ZFP36L1,downstream_gene_variant,,ENST00000553375,;ZFP36L1,downstream_gene_variant,,ENST00000557086,;	1274	99	66	SUCCESS
C14orf159	0	.	GRCh37	14	91633871	91633871	+	intron_variant	Intron	SNP	C	C	G	rs760688324	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	18	0	ENST00000518868.1:c.257+149C>G		p.*86*	ENST00000518868	NM_001286470.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41979.1	.	MUTECT|MUSE	.	AGGAACGAGCT	NONE	byFrequency	.	.	.	.	ENSP00000428263	.	.	.	.	.	.	.	.	.	.	rs760688324	.	PASS	ENST00000518868	Transcript	.	.	ENSG00000133943	20498	.	.	MODIFIER	7/16	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CN159_HUMAN	C14orf159	HGNC	E5RK56_HUMAN,E5RK14_HUMAN,E5RJD1_HUMAN,E5RJ87_HUMAN,E5RJ62_HUMAN,E5RIU5_HUMAN,E5RIL4_HUMAN,E5RHG2_HUMAN,E5RGP9_HUMAN,E5RFT5_HUMAN	.	UPI000000CC60	SNV	C14orf159,missense_variant,p.Arg106Gly,ENST00000298858,;C14orf159,missense_variant,p.Arg106Gly,ENST00000518665,;C14orf159,missense_variant,p.Asn87Lys,ENST00000519019,;C14orf159,3_prime_UTR_variant,,ENST00000517877,;C14orf159,intron_variant,,ENST00000523816,;C14orf159,intron_variant,,ENST00000521064,;C14orf159,intron_variant,,ENST00000428926,;C14orf159,intron_variant,,ENST00000522322,;C14orf159,intron_variant,,ENST00000523771,;C14orf159,intron_variant,,ENST00000518871,;C14orf159,intron_variant,,ENST00000523894,;C14orf159,intron_variant,,ENST00000519950,;C14orf159,intron_variant,,ENST00000517518,;C14orf159,intron_variant,,ENST00000518868,;C14orf159,intron_variant,,ENST00000521077,;C14orf159,intron_variant,,ENST00000520328,;C14orf159,intron_variant,,ENST00000521334,;C14orf159,intron_variant,,ENST00000525393,;C14orf159,intron_variant,,ENST00000522170,;C14orf159,intron_variant,,ENST00000256324,;C14orf159,intron_variant,,ENST00000412671,;C14orf159,downstream_gene_variant,,ENST00000522837,;C14orf159,downstream_gene_variant,,ENST00000524232,;C14orf159,downstream_gene_variant,,ENST00000517362,;C14orf159,downstream_gene_variant,,ENST00000523879,;C14orf159,intron_variant,,ENST00000518649,;C14orf159,intron_variant,,ENST00000523837,;C14orf159,intron_variant,,ENST00000523461,;C14orf159,intron_variant,,ENST00000519994,;C14orf159,upstream_gene_variant,,ENST00000517306,;	.	18	12	SUCCESS
GABRA5	2558	.	GRCh37	15	27193200	27193200	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	170	371	0	ENST00000335625.5:c.1209C>A	p.Val403=	p.V403=	ENST00000335625	NM_000810.3	403	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS45194.1	1209	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGTCTCAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000335592	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,synonymous_variant,p.%3D,ENST00000355395,;GABRA5,synonymous_variant,p.%3D,ENST00000400081,;GABRA5,synonymous_variant,p.%3D,ENST00000335625,;	2097	371	400	SUCCESS
DUOX2	50506	.	GRCh37	15	45396214	45396214	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	80	202	0	ENST00000603300.1:c.2598G>A	p.Met866Ile	p.M866I	ENST00000603300	NM_014080.4	866	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS10117.1	2598	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATACATGGT	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000475084	.	20/34	.	.	.	.	.	.	.	.	.	20/34	PASS	ENST00000603300	Transcript	1	.	ENSG00000140279	13273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.428)	.	deleterious(0)	.	DUOX2_HUMAN	DUOX2	HGNC	S6B490_HUMAN	.	UPI000013D775	SNV	DUOX2,missense_variant,p.Met866Ile,ENST00000389039,;DUOX2,missense_variant,p.Met866Ile,ENST00000603300,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,upstream_gene_variant,,ENST00000560797,;DUOX2,upstream_gene_variant,,ENST00000558416,;	2801	202	178	SUCCESS
DUOX1	53905	.	GRCh37	15	45433134	45433134	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	25	88	1	ENST00000321429.4:c.1431C>A	p.Ser477=	p.S477=	ENST00000321429	NM_017434.3	477	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS32221.1	1431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCCTGGCT	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	.	.	ENSP00000317997	.	14/35	.	.	.	.	.	.	.	.	.	14/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,synonymous_variant,p.%3D,ENST00000389037,;DUOX1,synonymous_variant,p.%3D,ENST00000321429,;DUOX1,synonymous_variant,p.%3D,ENST00000561166,;DUOX1,missense_variant,p.Leu420Met,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000558991,;	1838	89	101	SUCCESS
MYO9A	4649	.	GRCh37	15	72338657	72338657	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	50	122	0	ENST00000356056.5:c.248T>G	p.Val83Gly	p.V83G	ENST00000356056	NM_006901.3	83	gTt/gGt	0	.	.	.	.	.	C	V/G	protein_coding	YES	CCDS10239.1	248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAACTGGA	NONE	.	.	PROSITE_profiles:PS50200,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236	.	.	ENSP00000348349	.	2/42	.	.	.	.	.	.	.	.	.	2/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,missense_variant,p.Val83Gly,ENST00000424560,;MYO9A,missense_variant,p.Val83Gly,ENST00000569314,;MYO9A,missense_variant,p.Val83Gly,ENST00000564571,;MYO9A,missense_variant,p.Val83Gly,ENST00000356056,;MYO9A,missense_variant,p.Val83Gly,ENST00000444904,;MYO9A,intron_variant,,ENST00000566885,;MYO9A,downstream_gene_variant,,ENST00000564931,;RNU2-65P,downstream_gene_variant,,ENST00000410162,;AC022872.1,upstream_gene_variant,,ENST00000411321,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567560,;MYO9A,upstream_gene_variant,,ENST00000568438,;RP11-390D11.2,upstream_gene_variant,,ENST00000564027,;	721	123	117	SUCCESS
PARP6	56965	.	GRCh37	15	72541642	72541642	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	29	54	0	ENST00000287196.9:c.1505C>T	p.Ala502Val	p.A502V	ENST00000287196	NM_020214.2	502	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS10241.2	1505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGGCTGCT	NONE	.	.	PROSITE_profiles:PS51059,hmmpanther:PTHR21328:SF23,hmmpanther:PTHR21328,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	.	.	ENSP00000456348	.	20/24	.	.	.	.	.	.	.	.	.	20/24	PASS	ENST00000569795	Transcript	.	.	ENSG00000137817	26921	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.08)	.	PARP6_HUMAN	PARP6	HGNC	H3BUY2_HUMAN,H3BTI3_HUMAN	.	UPI000067DA73	SNV	PARP6,missense_variant,p.Ala436Val,ENST00000567974,;PARP6,missense_variant,p.Ala503Val,ENST00000419739,;PARP6,missense_variant,p.Ala502Val,ENST00000287196,;PARP6,missense_variant,p.Ala502Val,ENST00000569795,;PARP6,intron_variant,,ENST00000260376,;PARP6,intron_variant,,ENST00000569173,;PARP6,non_coding_transcript_exon_variant,,ENST00000544520,;PARP6,intron_variant,,ENST00000413097,;PARP6,3_prime_UTR_variant,,ENST00000567042,;PARP6,non_coding_transcript_exon_variant,,ENST00000568213,;PARP6,intron_variant,,ENST00000567263,;PARP6,intron_variant,,ENST00000565443,;PARP6,intron_variant,,ENST00000567440,;PARP6,intron_variant,,ENST00000566831,;PARP6,intron_variant,,ENST00000564610,;PARP6,intron_variant,,ENST00000569890,;PARP6,intron_variant,,ENST00000569972,;PARP6,upstream_gene_variant,,ENST00000566991,;	2193	54	65	SUCCESS
BAIAP3	8938	.	GRCh37	16	1396324	1396324	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1202761235	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	47	161	0	ENST00000324385.5:c.2560C>T	p.Arg854Trp	p.R854W	ENST00000324385	NM_003933.4	854	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS10434.1	2560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACGGGAG	NONE	.	.	hmmpanther:PTHR15015,hmmpanther:PTHR15015:SF19	.	.	ENSP00000324510	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000324385	Transcript	.	.	ENSG00000007516	948	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	.	deleterious(0)	.	BAIP3_HUMAN	BAIAP3	HGNC	.	.	UPI0000071E58	SNV	BAIAP3,missense_variant,p.Arg783Trp,ENST00000421665,;BAIAP3,missense_variant,p.Arg791Trp,ENST00000568887,;BAIAP3,missense_variant,p.Arg836Trp,ENST00000397488,;BAIAP3,missense_variant,p.Arg76Trp,ENST00000561793,;BAIAP3,missense_variant,p.Arg819Trp,ENST00000426824,;BAIAP3,missense_variant,p.Arg796Trp,ENST00000562208,;BAIAP3,missense_variant,p.Arg854Trp,ENST00000324385,;BAIAP3,missense_variant,p.Arg836Trp,ENST00000397489,;BAIAP3,intron_variant,,ENST00000566162,;TSR3,downstream_gene_variant,,ENST00000007390,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000564213,;BAIAP3,upstream_gene_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000561602,;BAIAP3,upstream_gene_variant,,ENST00000567203,;TSR3,downstream_gene_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000567825,;BAIAP3,downstream_gene_variant,,ENST00000568198,;	2718	161	144	SUCCESS
MLYCD	23417	.	GRCh37	16	83948656	83948656	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs138675420	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	42	123	0	ENST00000262430.4:c.1044G>T	p.Glu348Asp	p.E348D	ENST00000262430	NM_012213.2	348	gaG/gaT	0	T:0.0008	T:0	.	T:0	.	T	E/D	protein_coding	YES	CCDS42206.1	1044	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGAGCATGG	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF05292	T:0	T:0.0017	ENSP00000262430	T:0.003	5/5	.	.	.	.	.	.	.	.	rs138675420	5/5	common_in_exac	ENST00000262430	Transcript	.	T:0.0006	ENSG00000103150	7150	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	T:0	tolerated(0.28)	.	DCMC_HUMAN	MLYCD	HGNC	.	.	UPI0000128FD5	SNV	MLYCD,missense_variant,p.Glu348Asp,ENST00000262430,;RP11-505K9.4,intron_variant,,ENST00000561562,;MLYCD,non_coding_transcript_exon_variant,,ENST00000569024,;RP11-505K9.4,intron_variant,,ENST00000566309,;RP11-505K9.4,intron_variant,,ENST00000563312,;	1063	123	144	SUCCESS
AP2B1	163	.	GRCh37	17	33953639	33953639	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	57	242	1	ENST00000312678.8:c.717-1G>A		p.X239_splice	ENST00000312678	NM_001030006.1	239		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32621.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCAGCATCT	NONE	.	.	.	.	.	ENSP00000314414	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000312678	Transcript	.	.	ENSG00000006125	563	.	.	HIGH	6/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP2B1_HUMAN	AP2B1	HGNC	Q96EL6_HUMAN,K7ERB2_HUMAN,K7EN71_HUMAN,K7EJX1_HUMAN	.	UPI000006DD97	SNV	AP2B1,splice_acceptor_variant,,ENST00000589344,;AP2B1,splice_acceptor_variant,,ENST00000262325,;AP2B1,splice_acceptor_variant,,ENST00000312678,;AP2B1,splice_acceptor_variant,,ENST00000592545,;AP2B1,splice_acceptor_variant,,ENST00000538556,;AP2B1,splice_acceptor_variant,,ENST00000537622,;AP2B1,splice_acceptor_variant,,ENST00000545922,;AP2B1,splice_acceptor_variant,,ENST00000591561,;AP2B1,splice_acceptor_variant,,ENST00000592191,;AP2B1,intron_variant,,ENST00000588116,;	.	243	186	SUCCESS
PLEKHM1P	0	.	GRCh37	17	62796472	62796472	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	rs770166930	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	9	219	0	ENST00000578036.1:n.1682A>G		p.*561*	ENST00000578036				0	.	.	.	.	.	C	.	processed_transcript	.	.	.	MUTECT|MUSE	.	CCTGATGCGGA	NONE	.	.	.	.	.	.	.	7/18	.	.	.	.	.	.	.	.	rs770166930	7/18	PASS	ENST00000578036	Transcript	.	.	ENSG00000214176	35411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PLEKHM1P	HGNC	.	.	.	SNV	PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000578036,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582986,;PLEKHM1P,downstream_gene_variant,,ENST00000580919,;PLEKHM1P,non_coding_transcript_exon_variant,,ENST00000582201,;PLEKHM1P,downstream_gene_variant,,ENST00000440036,;	1682	220	139	SUCCESS
SOX9	6662	.	GRCh37	17	70120053	70120053	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	132	0	ENST00000245479.2:c.1055C>T	p.Ala352Val	p.A352V	ENST00000245479	NM_000346.3	352	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11689.1	1055	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212	.	.	ENSP00000245479	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000245479	Transcript	.	.	ENSG00000125398	11204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.06)	.	SOX9_HUMAN	SOX9	HGNC	.	.	UPI00000009D8	SNV	SOX9,missense_variant,p.Ala352Val,ENST00000245479,;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	1427	132	57	SUCCESS
UNK	85451	.	GRCh37	17	73805893	73805893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	143	0	ENST00000589666.1:c.157T>C	p.Cys53Arg	p.C53R	ENST00000589666	NM_001080419.2	53	Tgc/Cgc	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS45778.2	157	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAATGCACG	NONE	.	.	hmmpanther:PTHR14493,hmmpanther:PTHR14493:SF36	.	.	ENSP00000464893	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000589666	Transcript	.	.	ENSG00000132478	29369	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	UNK_HUMAN	UNK	HGNC	.	.	UPI00001C1FC3	SNV	UNK,missense_variant,p.Cys53Arg,ENST00000589666,;UNK,missense_variant,p.Cys129Arg,ENST00000293218,;UNK,3_prime_UTR_variant,,ENST00000592629,;UNK,upstream_gene_variant,,ENST00000586217,;	267	143	116	SUCCESS
TP53	7157	.	GRCh37	17	7577538	7577538	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11540652	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	91	0	ENST00000269305.4:c.743G>A	p.Arg248Gln	p.R248Q	ENST00000269305	NM_001126112.2	248	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11118.1	743	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	GCCTCCGGTTC	SITE|p.R248Q|c.743G>A|113,SITE|p.R248Q|c.743G>A|633,SITE|p.R248Q|c.743G>A|64,SITE|p.R248Q|c.743G>A|42,SITE|p.R155Q|c.464G>A|114,SITE|p.R248Q|c.743G>A|110,CODON|p.0?|c.1_1182del1182|6,CODON|p.R248Q|c.743_744GG>AA|5,CODON|p.R248R|c.744G>A|5,CODON|p.R248W|c.741_742CC>TT|15,CODON|p.R248L|c.743G>T|7,CODON|p.R248L|c.743G>T|12,CODON|p.R155L|c.464G>T|12,CODON|p.R155P|c.464G>C|5,CODON|p.R248P|c.743G>C|17,CODON|p.R248L|c.743G>T|12,CODON|p.R248P|c.743G>C|5,CODON|p.R248L|c.743G>T|74,CODON|p.R248P|c.743G>C|5,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4,BUFFER|p.G245G|c.735C>T|5,BUFFER|p.G245D|c.734G>A|10,BUFFER|p.G245V|c.734G>T|3,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245A|c.734G>C|8,BUFFER|p.G152D|c.455G>A|23,BUFFER|p.G152V|c.455G>T|15,BUFFER|p.G245V|c.734G>T|10,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245D|c.734G>A|119,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245D|c.734G>A|7,BUFFER|p.G245V|c.734G>T|69,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs11540652,CM920675,TP53_g.13380G>A,TP53_g.13380G>C,TP53_g.13380G>T,TP53_g.13380del,COSM10662,COSM11491,COSM6549,COSM46135,COSM340105,COSM99602,COSM241995,COSM99020,COSM241994,COSM340106,COSM3356964,COSM3378346,COSM1640830,COSM1646857,COSM1646858,COSM99021,COSM241996,COSM340107	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25032700,20377871,18798306,15450681,25105660,21264207	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg248Gln,ENST00000413465,;TP53,missense_variant,p.Arg248Gln,ENST00000420246,;TP53,missense_variant,p.Arg248Gln,ENST00000269305,;TP53,missense_variant,p.Arg116Gln,ENST00000509690,;TP53,missense_variant,p.Arg248Gln,ENST00000359597,;TP53,missense_variant,p.Arg155Gln,ENST00000514944,;TP53,missense_variant,p.Arg248Gln,ENST00000445888,;TP53,missense_variant,p.Arg248Gln,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	933	91	78	SUCCESS
EMR3	0	.	GRCh37	19	14765959	14765959	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	5	111	0	ENST00000253673.5:c.412A>C	p.Lys138Gln	p.K138Q	ENST00000253673	NM_032571.3	138	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS12315.1	412	MUTECT|MUSE	.	AAATTTGTCCA	NONE	.	.	Pfam_domain:PF12003,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178	.	.	ENSP00000253673	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.52)	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,missense_variant,p.Lys138Gln,ENST00000253673,;EMR3,missense_variant,p.Lys86Gln,ENST00000344373,;EMR3,intron_variant,,ENST00000599900,;EMR3,intron_variant,,ENST00000443157,;	513	111	107	SUCCESS
ZNF100	163227	.	GRCh37	19	21909882	21909882	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs546924864	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	15	98	1	ENST00000358296.6:c.1232A>T	p.Asn411Ile	p.N411I	ENST00000358296	NM_173531.3	411	aAc/aTc	0	.	A:0	.	A:0	.	A	N/I	protein_coding	YES	CCDS42538.1	1232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGTTAAAG	NONE	by1000G	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF78,PROSITE_profiles:PS50157	A:0.001	.	ENSP00000351042	A:0	5/5	.	.	.	.	.	.	.	.	rs546924864	5/5	PASS	ENST00000358296	Transcript	.	A:0.0002	ENSG00000197020	12880	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.776)	A:0	tolerated(0.18)	.	ZN100_HUMAN	ZNF100	HGNC	Q6MZN6_HUMAN	.	UPI00001614AC	SNV	ZNF100,missense_variant,p.Asn347Ile,ENST00000305570,;ZNF100,missense_variant,p.Asn411Ile,ENST00000358296,;ZNF100,downstream_gene_variant,,ENST00000594401,;	1431	99	84	SUCCESS
ZNF492	57615	.	GRCh37	19	22847068	22847068	+	synonymous_variant	Silent	SNP	C	C	T	rs531303435	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	293	93	537	1	ENST00000456783.2:c.597C>T	p.Cys199=	p.C199=	ENST00000456783	NM_020855.2	199	tgC/tgT	0	.	T:0	.	T:0	.	T	C	protein_coding	YES	CCDS46032.1	597	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGCGAAGA	NONE	by1000G	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	T:0.001	.	ENSP00000413660	T:0	4/4	.	.	.	.	.	.	.	.	rs531303435	4/4	PASS	ENST00000456783	Transcript	.	T:0.0002	ENSG00000229676	23707	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,synonymous_variant,p.%3D,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	841	538	387	SUCCESS
ZNF91	7644	.	GRCh37	19	23542679	23542679	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	36	0	ENST00000300619.7:c.3102C>T	p.Ser1034=	p.S1034=	ENST00000300619	NM_003430.2	1034	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS42541.1	3102	MUTECT|MUSE	.	TTTGAGGATCG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	.	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,synonymous_variant,p.%3D,ENST00000397082,;ZNF91,synonymous_variant,p.%3D,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	3308	36	48	SUCCESS
ZNF665	79788	.	GRCh37	19	53668097	53668097	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	19	114	0	ENST00000600412.1:c.1451A>G	p.Lys484Arg	p.K484R	ENST00000600412		484	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS46169.1	1646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTTGCCG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396424	Transcript	.	.	ENSG00000197497	25885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0.03)	.	ZN665_HUMAN	ZNF665	HGNC	.	.	UPI000059D78D	SNV	ZNF665,missense_variant,p.Lys549Arg,ENST00000396424,;ZNF665,missense_variant,p.Lys484Arg,ENST00000600412,;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	1736	114	91	SUCCESS
VSTM1	284415	.	GRCh37	19	54545432	54545432	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs749666791	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	137	0	ENST00000338372.2:c.506C>G	p.Ser169Cys	p.S169C	ENST00000338372	NM_198481.3	169	tCc/tGc	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS12872.1	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGGATTCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000343366	.	6/9	.	.	.	.	.	.	.	.	rs749666791,COSM713818	6/9	PASS	ENST00000338372	Transcript	.	.	ENSG00000189068	29455	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.96)	.	deleterious(0.04)	0,1	VSTM1_HUMAN	VSTM1	HGNC	.	.	UPI00001D8195	SNV	VSTM1,missense_variant,p.Ser169Cys,ENST00000338372,;VSTM1,missense_variant,p.Ser59Cys,ENST00000419106,;VSTM1,missense_variant,p.Ser81Cys,ENST00000366170,;VSTM1,missense_variant,p.Ser138Cys,ENST00000376626,;VSTM1,3_prime_UTR_variant,,ENST00000425006,;VSTM1,intron_variant,,ENST00000447872,;	682	137	94	SUCCESS
LILRA3	11026	.	GRCh37	19	54802132	54802132	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	31	86	0	ENST00000251390.3:c.1056G>C	p.Met352Ile	p.M352I	ENST00000251390	NM_006865.3	352	atG/atC	0	.	.	.	.	.	G	M/I	protein_coding	YES	CCDS12887.1	1056	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGCATCCC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000251390	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000251390	Transcript	.	.	ENSG00000170866	6604	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.18)	.	LIRA3_HUMAN	LILRA3	HGNC	.	.	UPI0000116F1D	SNV	LILRA3,missense_variant,p.Met369Ile,ENST00000391745,;LILRA3,missense_variant,p.Met352Ile,ENST00000251390,;LILRA3,missense_variant,p.Met288Ile,ENST00000391744,;AC010518.3,upstream_gene_variant,,ENST00000417373,;	1148	86	81	SUCCESS
U2AF2	11338	.	GRCh37	19	56180129	56180129	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	66	0	ENST00000308924.4:c.916G>C	p.Glu306Gln	p.E306Q	ENST00000308924		306	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS12933.1	916	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGAGTAC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF53,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01642,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000307863	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000308924	Transcript	.	.	ENSG00000063244	23156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	deleterious(0.01)	.	U2AF2_HUMAN	U2AF2	HGNC	.	.	UPI0000137924	SNV	U2AF2,missense_variant,p.Glu306Gln,ENST00000308924,;U2AF2,missense_variant,p.Glu142Gln,ENST00000590551,;U2AF2,missense_variant,p.Glu306Gln,ENST00000450554,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;CTD-2537I9.13,upstream_gene_variant,,ENST00000592252,;U2AF2,3_prime_UTR_variant,,ENST00000592874,;U2AF2,downstream_gene_variant,,ENST00000587275,;	956	66	69	SUCCESS
RAB11B-AS1	100507567	.	GRCh37	19	8455046	8455046	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	26	0	ENST00000593581.1:n.524G>T		p.*175*	ENST00000593581				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12201.1	.	MUTECT|MUSE	.	TGGCGCGTCCG	NONE	.	37	.	.	.	ENSP00000333547	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328024	Transcript	.	.	ENSG00000185236	9761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RB11B_HUMAN	RAB11B	HGNC	M0R377_HUMAN	.	UPI000006CF2D	SNV	RAB11B,intron_variant,,ENST00000600719,;RAB11B,upstream_gene_variant,,ENST00000594216,;RAB11B,upstream_gene_variant,,ENST00000328024,;RAB11B,upstream_gene_variant,,ENST00000601897,;MIR4999,upstream_gene_variant,,ENST00000585029,;RAB11B-AS1,non_coding_transcript_exon_variant,,ENST00000593581,;RAB11B-AS1,upstream_gene_variant,,ENST00000597785,;RAB11B,upstream_gene_variant,,ENST00000598706,;	.	26	10	SUCCESS
CA14	23632	.	GRCh37	1	150235583	150235583	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	10	157	0	ENST00000369111.4:c.705G>T	p.Gln235His	p.Q235H	ENST00000369111	NM_012113.1	235	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS947.1	705	MUTECT|MUSE	.	TCCCAGATTTC	NONE	.	.	PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF84,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	.	.	ENSP00000358107	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000369111	Transcript	.	.	ENSG00000118298	1372	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.934)	.	deleterious(0.01)	.	CAH14_HUMAN	CA14	HGNC	A8K3J4_HUMAN	.	UPI00000389EA	SNV	CA14,missense_variant,p.Gln47His,ENST00000607082,;CA14,missense_variant,p.Gln235His,ENST00000369111,;APH1A,downstream_gene_variant,,ENST00000236017,;APH1A,downstream_gene_variant,,ENST00000360244,;APH1A,downstream_gene_variant,,ENST00000414276,;APH1A,downstream_gene_variant,,ENST00000369109,;snoU13,downstream_gene_variant,,ENST00000458929,;APH1A,downstream_gene_variant,,ENST00000461320,;APH1A,downstream_gene_variant,,ENST00000486308,;APH1A,downstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000486720,;CA14,3_prime_UTR_variant,,ENST00000483993,;CA14,non_coding_transcript_exon_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000607751,;	1675	157	198	SUCCESS
TADA1	117143	.	GRCh37	1	166826920	166826920	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	56	140	0	ENST00000367874.4:c.892G>C	p.Ala298Pro	p.A298P	ENST00000367874	NM_053053.3	298	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS1255.1	892	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCATAGA	NONE	.	.	hmmpanther:PTHR21277	.	.	ENSP00000356848	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367874	Transcript	.	.	ENSG00000152382	30631	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	TADA1_HUMAN	TADA1	HGNC	.	.	UPI00000709B6	SNV	TADA1,missense_variant,p.Ala298Pro,ENST00000367874,;POGK,downstream_gene_variant,,ENST00000367876,;POGK,downstream_gene_variant,,ENST00000537173,;POGK,downstream_gene_variant,,ENST00000367875,;TADA1,non_coding_transcript_exon_variant,,ENST00000467021,;	986	140	162	SUCCESS
PADI2	11240	.	GRCh37	1	17410314	17410314	+	synonymous_variant	Silent	SNP	C	C	T	rs141844952	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	88	0	ENST00000375486.4:c.957G>A	p.Leu319=	p.L319=	ENST00000375486	NM_007365.2	319	ctG/ctA	0	T:0.0002	.	.	.	.	T	L	protein_coding	YES	CCDS177.1	957	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAACAGGTA	NONE	byCluster	.	hmmpanther:PTHR10837:SF1,hmmpanther:PTHR10837,Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,Superfamily_domains:SSF55909	.	T:0	ENSP00000364635	.	9/16	.	.	.	.	.	.	.	.	rs141844952	9/16	PASS	ENST00000375486	Transcript	.	.	ENSG00000117115	18341	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PADI2_HUMAN	PADI2	HGNC	Q96DA7_HUMAN	.	UPI00001314AF	SNV	PADI2,synonymous_variant,p.%3D,ENST00000375486,;PADI2,synonymous_variant,p.%3D,ENST00000444885,;PADI2,synonymous_variant,p.%3D,ENST00000375481,;PADI2,upstream_gene_variant,,ENST00000466151,;	1021	88	61	SUCCESS
HMCN1	83872	.	GRCh37	1	186047303	186047303	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	28	163	0	ENST00000271588.4:c.8550T>A	p.Ala2850=	p.A2850=	ENST00000271588	NM_031935.2	2850	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS30956.1	8550	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCTGTGAA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF158,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000271588	.	55/107	.	.	.	.	.	.	.	.	.	55/107	PASS	ENST00000271588	Transcript	.	.	ENSG00000143341	19194	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HMCN1_HUMAN	HMCN1	HGNC	.	.	UPI0000458C0E	SNV	HMCN1,synonymous_variant,p.%3D,ENST00000367492,;HMCN1,synonymous_variant,p.%3D,ENST00000271588,;	8779	163	195	SUCCESS
LGR6	59352	.	GRCh37	1	202287683	202287683	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	50	0	ENST00000367278.3:c.2252A>G	p.Tyr751Cys	p.Y751C	ENST00000367278	NM_001017403.1	751	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS30971.1	2252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTACATCA	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12	.	.	ENSP00000356247	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000367278	Transcript	.	.	ENSG00000133067	19719	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.33)	.	deleterious(0.01)	.	LGR6_HUMAN	LGR6	HGNC	.	.	UPI0000161221	SNV	LGR6,missense_variant,p.Tyr699Cys,ENST00000255432,;LGR6,missense_variant,p.Tyr751Cys,ENST00000367278,;LGR6,missense_variant,p.Tyr612Cys,ENST00000439764,;LGR6,3_prime_UTR_variant,,ENST00000487787,;	2341	51	38	SUCCESS
FAM110D	79927	.	GRCh37	1	26487902	26487902	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	141	0	ENST00000374268.3:c.120G>T	p.Glu40Asp	p.E40D	ENST00000374268	NM_024869.2	40	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS41285.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGCCAGC	NONE	.	.	hmmpanther:PTHR14758,Pfam_domain:PF14161	.	.	ENSP00000363386	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374268	Transcript	.	.	ENSG00000197245	25860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.04)	.	F110D_HUMAN	FAM110D	HGNC	.	.	UPI000006DD1D	SNV	FAM110D,missense_variant,p.Glu40Asp,ENST00000374268,;	307	141	86	SUCCESS
IPP	3652	.	GRCh37	1	46195357	46195357	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	50	280	0	ENST00000396478.3:c.809A>C	p.Lys270Thr	p.K270T	ENST00000396478	NM_005897.2	270	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS30702.1	809	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTTGTTC	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF35,PIRSF_domain:PIRSF037037	.	.	ENSP00000379739	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000396478	Transcript	.	.	ENSG00000197429	6108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	deleterious(0.02)	.	IPP_HUMAN	IPP	HGNC	.	.	UPI000012D80B	SNV	IPP,missense_variant,p.Lys270Thr,ENST00000396478,;IPP,missense_variant,p.Lys270Thr,ENST00000359942,;	912	280	233	SUCCESS
PHF13	148479	.	GRCh37	1	6681657	6681657	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	141	0	ENST00000377648.4:c.863A>G	p.Asn288Ser	p.N288S	ENST00000377648	NM_153812.2	288	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS85.1	863	MUTECT|MUSE	.	TTCCAACCGCT	NONE	.	.	hmmpanther:PTHR14571:SF10,hmmpanther:PTHR14571	.	.	ENSP00000366876	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377648	Transcript	.	.	ENSG00000116273	22983	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.14)	.	PHF13_HUMAN	PHF13	HGNC	.	.	UPI000013C9BF	SNV	PHF13,missense_variant,p.Asn288Ser,ENST00000377648,;THAP3,upstream_gene_variant,,ENST00000307896,;THAP3,upstream_gene_variant,,ENST00000054650,;THAP3,upstream_gene_variant,,ENST00000472925,;THAP3,upstream_gene_variant,,ENST00000377627,;PHF13,intron_variant,,ENST00000495385,;THAP3,upstream_gene_variant,,ENST00000484676,;THAP3,upstream_gene_variant,,ENST00000484669,;THAP3,upstream_gene_variant,,ENST00000487819,;	1245	141	101	SUCCESS
LRRC7	57554	.	GRCh37	1	70541785	70541785	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	210	10	277	1	ENST00000035383.5:c.4142T>C	p.Met1381Thr	p.M1381T	ENST00000035383	NM_020794.2	1381	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS645.1	4142	MUTECT|MUSE	.	GTTGATGGGGT	NONE	.	.	.	.	.	ENSP00000035383	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000035383	Transcript	.	.	ENSG00000033122	18531	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.345)	.	tolerated(0.07)	.	LRRC7_HUMAN	LRRC7	HGNC	.	.	UPI000006F29B	SNV	LRRC7,missense_variant,p.Met665Thr,ENST00000415775,;LRRC7,missense_variant,p.Met1381Thr,ENST00000035383,;LRRC7,missense_variant,p.Met1339Thr,ENST00000310961,;	4172	278	221	SUCCESS
NKX2-2	4821	.	GRCh37	20	21493051	21493065	+	inframe_deletion	In_Frame_Del	DEL	GACTCGTCGGCCGAG	GACTCGTCGGCCGAG	-	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	GACTCGTCGGCCGAG	GACTCGTCGGCCGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	48	0	ENST00000377142.4:c.318_332del	p.Ser107_Ser111del	p.S107_S111del	ENST00000377142	NM_002509.3	106	ccCTCGGCCGACGAGTCa/cca	0	.	.	.	.	.	-	PSADES/P	protein_coding	YES	CCDS13145.1	318-332	INDELOCATOR*|VARSCANI*|PINDEL	.	TCCGGTGACTCGTCGGCCGAGGGCTC	NONE	.	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24,Gene3D:1.10.10.60	.	.	ENSP00000366347	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377142	Transcript	.	.	ENSG00000125820	7835	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NKX22_HUMAN	NKX2-2	HGNC	.	.	UPI00001301E6	deletion	NKX2-2,inframe_deletion,p.Ser107_Ser111del,ENST00000377142,;NKX2-2-AS1,downstream_gene_variant,,ENST00000549659,;	675-689	48	52	SUCCESS
PREX1	57580	.	GRCh37	20	47267479	47267479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	59	0	ENST00000371941.3:c.2770G>T	p.Asp924Tyr	p.D924Y	ENST00000371941	NM_020820.3	924	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS13410.1	2770	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTCACAGA	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	.	.	ENSP00000361009	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,missense_variant,p.Asp924Tyr,ENST00000396220,;PREX1,missense_variant,p.Asp924Tyr,ENST00000371941,;PREX1,missense_variant,p.Asp246Tyr,ENST00000482556,;	2793	59	71	SUCCESS
PREX1	57580	.	GRCh37	20	47267528	47267528	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	15	67	0	ENST00000371941.3:c.2721G>A	p.Leu907=	p.L907=	ENST00000371941	NM_020820.3	907	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13410.1	2721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCAGGGC	NONE	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	.	.	ENSP00000361009	.	23/40	.	.	.	.	.	.	.	.	.	23/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,synonymous_variant,p.%3D,ENST00000396220,;PREX1,synonymous_variant,p.%3D,ENST00000371941,;PREX1,synonymous_variant,p.%3D,ENST00000482556,;	2744	67	85	SUCCESS
PREX1	57580	.	GRCh37	20	47267976	47267976	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	14	82	0	ENST00000371941.3:c.2613G>A	p.Glu871=	p.E871=	ENST00000371941	NM_020820.3	871	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS13410.1	2613	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCTCCAG	BUFFER|p.K872N|c.2616G>C|5,BUFFER|p.K872N|c.2616G>C|5	.	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	.	.	ENSP00000361009	.	22/40	.	.	.	.	.	.	.	.	.	22/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,synonymous_variant,p.%3D,ENST00000396220,;PREX1,synonymous_variant,p.%3D,ENST00000371941,;PREX1,synonymous_variant,p.%3D,ENST00000482556,;	2636	82	102	SUCCESS
TSHZ2	128553	.	GRCh37	20	51870809	51870809	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	245	11	192	1	ENST00000371497.5:c.812C>A	p.Ala271Asp	p.A271D	ENST00000371497	NM_173485.5	271	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS33490.1	812	MUTECT|MUSE	.	GGATGCTCAAA	NONE	.	.	hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487,Pfam_domain:PF12756	.	.	ENSP00000360552	.	2/3	.	.	.	.	.	.	.	.	COSM578187	2/3	PASS	ENST00000371497	Transcript	.	.	ENSG00000182463	13010	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.999)	.	deleterious(0)	1	TSH2_HUMAN	TSHZ2	HGNC	S4R3C8_HUMAN	.	UPI0000206747	SNV	TSHZ2,missense_variant,p.Ala268Asp,ENST00000603338,;TSHZ2,missense_variant,p.Ala271Asp,ENST00000371497,;TSHZ2,missense_variant,p.Ala268Asp,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	1699	193	256	SUCCESS
PPP1R3D	5509	.	GRCh37	20	58514721	58514721	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs768627326	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	36	0	ENST00000370996.3:c.266C>T	p.Pro89Leu	p.P89L	ENST00000370996	NM_006242.3	89	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS13483.1	266	MUTECT|MUSE|VARSCANS	.	CGCCCGGCGCG	NONE	.	.	Low_complexity_(Seg):seg,PIRSF_domain:PIRSF038207,hmmpanther:PTHR12307:SF11,hmmpanther:PTHR12307	.	.	ENSP00000360035	.	1/1	.	.	.	.	.	.	.	.	rs768627326	1/1	PASS	ENST00000370996	Transcript	.	.	ENSG00000132825	9294	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.017)	.	tolerated(0.06)	.	PPR3D_HUMAN	PPP1R3D	HGNC	.	.	UPI0000131FC4	SNV	PPP1R3D,missense_variant,p.Pro89Leu,ENST00000370996,;FAM217B,intron_variant,,ENST00000358293,;FAM217B,upstream_gene_variant,,ENST00000421092,;FAM217B,upstream_gene_variant,,ENST00000360816,;FAM217B,upstream_gene_variant,,ENST00000469084,;	632	36	34	SUCCESS
MYT1	4661	.	GRCh37	20	62837008	62837008	+	synonymous_variant	Silent	SNP	C	C	T	rs150526675	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	46	150	0	ENST00000328439.1:c.252C>T	p.Asp84=	p.D84=	ENST00000328439	NM_004535.2	84	gaC/gaT	0	.	T:0	.	T:0	.	T	D	protein_coding	YES	CCDS13558.1	252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGACGAGGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	T:0	.	ENSP00000327465	T:0.001	6/23	.	.	.	.	.	.	.	.	rs150526675	6/23	PASS	ENST00000328439	Transcript	.	T:0.0002	ENSG00000196132	7622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,synonymous_variant,p.%3D,ENST00000536311,;MYT1,synonymous_variant,p.%3D,ENST00000360149,;MYT1,synonymous_variant,p.%3D,ENST00000328439,;	616	150	173	SUCCESS
CCT8L2	150160	.	GRCh37	22	17071949	17071949	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs778469756	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	61	155	0	ENST00000359963.3:c.1492A>G	p.Ile498Val	p.I498V	ENST00000359963	NM_014406.4	498	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS13738.1	1492	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTATTAGGG	NONE	.	.	Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353	.	.	ENSP00000353048	.	1/1	.	.	.	.	.	.	.	.	rs778469756	1/1	PASS	ENST00000359963	Transcript	.	.	ENSG00000198445	15553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.47)	.	TCPQM_HUMAN	CCT8L2	HGNC	.	.	UPI000006CF87	SNV	CCT8L2,missense_variant,p.Ile498Val,ENST00000359963,;FABP5P11,downstream_gene_variant,,ENST00000430910,;	1752	155	140	SUCCESS
APOBEC3G	60489	.	GRCh37	22	39482490	39482490	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	23	154	1	ENST00000407997.3:c.942C>T	p.Ile314=	p.I314=	ENST00000407997	NM_021822.3	314	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS13984.1	942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATCTATGA	NONE	.	.	hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF23,Pfam_domain:PF08210,Superfamily_domains:SSF53927	.	.	ENSP00000385057	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000407997	Transcript	.	.	ENSG00000239713	17357	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABC3G_HUMAN	APOBEC3G	HGNC	B2LYL6_HUMAN	.	UPI00000709E2	SNV	APOBEC3G,synonymous_variant,p.%3D,ENST00000452957,;APOBEC3G,synonymous_variant,p.%3D,ENST00000407997,;APOBEC3G,downstream_gene_variant,,ENST00000461827,;APOBEC3G,downstream_gene_variant,,ENST00000494150,;APOBEC3G,downstream_gene_variant,,ENST00000480000,;APOBEC3G,downstream_gene_variant,,ENST00000481958,;	1299	155	134	SUCCESS
DPP4	1803	.	GRCh37	2	162894911	162894911	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs779450801	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	18	252	0	ENST00000360534.3:c.514A>G	p.Ile172Val	p.I172V	ENST00000360534	NM_001935.3	172	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS2216.1	514	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATGTCAT	NONE	.	.	hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF93,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171	.	.	ENSP00000353731	.	8/26	.	.	.	.	.	.	.	.	rs779450801	8/26	PASS	ENST00000360534	Transcript	.	.	ENSG00000197635	3009	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	tolerated(0.52)	.	DPP4_HUMAN	DPP4	HGNC	.	.	UPI000004F7BF	SNV	DPP4,missense_variant,p.Ile172Val,ENST00000360534,;DPP4,non_coding_transcript_exon_variant,,ENST00000497461,;DPP4,3_prime_UTR_variant,,ENST00000416189,;DPP4,3_prime_UTR_variant,,ENST00000434918,;DPP4,non_coding_transcript_exon_variant,,ENST00000461836,;DPP4,non_coding_transcript_exon_variant,,ENST00000490286,;DPP4,downstream_gene_variant,,ENST00000413651,;	1075	252	175	SUCCESS
ANKRD44	91526	.	GRCh37	2	197948233	197948233	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	10	83	0	ENST00000282272.8:c.1293G>A		p.X431_splice	ENST00000282272	NM_001195144.1	431	agG/agA	0	.	.	.	.	.	T	R	protein_coding	.	.	1242	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTCCTGAA	NONE	.	.	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24158:SF19,hmmpanther:PTHR24158,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	.	.	ENSP00000338794	.	13/25	.	.	.	.	.	.	.	.	.	13/25	PASS	ENST00000337207	Transcript	.	.	ENSG00000065413	25259	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKRD44	HGNC	H7BXV4_HUMAN	.	UPI00015E0ACE	SNV	ANKRD44,synonymous_variant,p.%3D,ENST00000337207,;ANKRD44,synonymous_variant,p.%3D,ENST00000424317,;ANKRD44,synonymous_variant,p.%3D,ENST00000409153,;ANKRD44,synonymous_variant,p.%3D,ENST00000422886,;ANKRD44,synonymous_variant,p.%3D,ENST00000282272,;ANKRD44,synonymous_variant,p.%3D,ENST00000539527,;ANKRD44,synonymous_variant,p.%3D,ENST00000450567,;ANKRD44,synonymous_variant,p.%3D,ENST00000328737,;ANKRD44,splice_region_variant,,ENST00000477852,;	1242	83	70	SUCCESS
LRPPRC	10128	.	GRCh37	2	44152227	44152227	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	90	0	ENST00000260665.7:c.2875T>C	p.Tyr959His	p.Y959H	ENST00000260665	NM_133259.3	959	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS33189.1	2875	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTAGTACA	NONE	.	.	PROSITE_profiles:PS51375,hmmpanther:PTHR24015:SF0,hmmpanther:PTHR24015,Gene3D:1.25.40.10	.	.	ENSP00000260665	.	27/38	.	.	.	.	.	.	.	.	.	27/38	PASS	ENST00000260665	Transcript	.	.	ENSG00000138095	15714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	tolerated(0.13)	.	LPPRC_HUMAN	LRPPRC	HGNC	E5KNY5_HUMAN	.	UPI000019B4D2	SNV	LRPPRC,missense_variant,p.Tyr959His,ENST00000260665,;	2933	90	57	SUCCESS
ANTXR1	84168	.	GRCh37	2	69408989	69408989	+	synonymous_variant	Silent	SNP	C	C	T	rs762651259	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	140	0	ENST00000303714.4:c.1161C>T	p.Gly387=	p.G387=	ENST00000303714	NM_032208.2	387	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS1892.1	1161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGTTGG	NONE	byFrequency	.	hmmpanther:PTHR16059:SF11,hmmpanther:PTHR16059,PIRSF_domain:PIRSF038023	.	.	ENSP00000301945	.	15/18	.	.	.	.	.	.	.	.	rs762651259	15/18	PASS	ENST00000303714	Transcript	.	.	ENSG00000169604	21014	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANTR1_HUMAN	ANTXR1	HGNC	.	.	UPI0000049806	SNV	ANTXR1,synonymous_variant,p.%3D,ENST00000303714,;RNU6-1216P,upstream_gene_variant,,ENST00000362590,;RNA5SP96,downstream_gene_variant,,ENST00000516041,;	1483	140	88	SUCCESS
SIAH2	6478	.	GRCh37	3	150480232	150480232	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	91	0	ENST00000312960.3:c.405G>A	p.Leu135=	p.L135=	ENST00000312960	NM_005067.5	135	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS3152.1	405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACAGGAC	NONE	.	.	PROSITE_profiles:PS51081,hmmpanther:PTHR10315:SF11,hmmpanther:PTHR10315,Gene3D:3.30.40.10,Pfam_domain:PF03145,Superfamily_domains:SSF57850,Superfamily_domains:SSF49599	.	.	ENSP00000322457	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000312960	Transcript	.	.	ENSG00000181788	10858	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAH2_HUMAN	SIAH2	HGNC	C9J9D7_HUMAN	.	UPI0000071280	SNV	SIAH2,synonymous_variant,p.%3D,ENST00000312960,;SIAH2,synonymous_variant,p.%3D,ENST00000482706,;SIAH2-AS1,non_coding_transcript_exon_variant,,ENST00000461943,;SIAH2,downstream_gene_variant,,ENST00000472885,;	933	91	50	SUCCESS
OTOL1	131149	.	GRCh37	3	161221449	161221449	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	88	0	ENST00000327928.4:c.1153C>T	p.Pro385Ser	p.P385S	ENST00000327928	NM_001080440.1	385	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46948.1	1153	MUTECT|MUSE	.	CTATTCCTGGG	NONE	.	.	PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF25,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	.	.	ENSP00000330808	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000327928	Transcript	.	.	ENSG00000182447	34071	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.99)	.	tolerated(0.1)	.	OTOL1_HUMAN	OTOL1	HGNC	.	.	UPI0000D61BA3	SNV	OTOL1,missense_variant,p.Pro385Ser,ENST00000327928,;	1153	88	78	SUCCESS
RP11-379K17.4	0	.	GRCh37	3	169663999	169663999	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	76	0	ENST00000483289.2:n.3296C>T		p.*1099*	ENST00000483289				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGGGCTC	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000483289	Transcript	.	.	ENSG00000239219	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-379K17.4	Clone_based_vega_gene	.	.	.	SNV	RP11-379K17.4,non_coding_transcript_exon_variant,,ENST00000483289,;RP11-379K17.4,intron_variant,,ENST00000487580,;RP11-379K17.4,downstream_gene_variant,,ENST00000600502,;RP11-379K17.5,non_coding_transcript_exon_variant,,ENST00000494834,;	3296	76	53	SUCCESS
ATP13A3	79572	.	GRCh37	3	194140666	194140666	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1242455481	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	544	28	661	0	ENST00000256031.4:c.3344A>G	p.Tyr1115Cys	p.Y1115C	ENST00000256031	NM_024524.3	1115	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS43187.1	3344	MUTECT|MUSE	.	AAATATATAAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF249,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473	.	.	ENSP00000416508	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000439040	Transcript	.	.	ENSG00000133657	24113	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	deleterious(0.03)	.	AT133_HUMAN	ATP13A3	HGNC	C9JAP7_HUMAN,C9J7Z7_HUMAN	.	UPI000049DFC3	SNV	ATP13A3,missense_variant,p.Tyr1115Cys,ENST00000256031,;ATP13A3,missense_variant,p.Tyr1115Cys,ENST00000439040,;ATP13A3,missense_variant,p.Tyr21Cys,ENST00000429136,;ATP13A3,non_coding_transcript_exon_variant,,ENST00000497567,;	4136	661	573	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160277049	160277049	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1220140533	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	33	190	0	ENST00000264431.4:c.4213G>A	p.Gly1405Ser	p.G1405S	ENST00000264431	NM_014247.2	1405	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS43277.1	4213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGCTAC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000264431	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.03)	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	SNV	RAPGEF2,missense_variant,p.Gly1405Ser,ENST00000264431,;RAPGEF2,downstream_gene_variant,,ENST00000505026,;RAPGEF2,downstream_gene_variant,,ENST00000510253,;RAPGEF2,downstream_gene_variant,,ENST00000509891,;	4632	190	141	SUCCESS
CDKN2AIP	55602	.	GRCh37	4	184367702	184367702	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs754705709	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	35	160	0	ENST00000504169.1:c.865G>T	p.Glu289Ter	p.E289*	ENST00000504169	NM_017632.2	289	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34110.1	865	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCGAGGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16148,hmmpanther:PTHR16148:SF5	.	.	ENSP00000427108	.	3/3	.	.	.	.	.	.	.	.	rs754705709,COSM4123652	3/3	PASS	ENST00000504169	Transcript	.	.	ENSG00000168564	24325	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	CARF_HUMAN	CDKN2AIP	HGNC	B3KTW3_HUMAN	.	UPI000004A077	SNV	CDKN2AIP,stop_gained,p.Glu289Ter,ENST00000504169,;CDKN2AIP,3_prime_UTR_variant,,ENST00000302350,;CDKN2AIP,downstream_gene_variant,,ENST00000510928,;CDKN2AIP,non_coding_transcript_exon_variant,,ENST00000506835,;CDKN2AIP,intron_variant,,ENST00000502924,;	1072	160	148	SUCCESS
TRIML2	205860	.	GRCh37	4	189013069	189013069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	30	0	ENST00000512729.1:c.622G>T	p.Ala208Ser	p.A208S	ENST00000512729	NM_173553.1	208	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS3850.1	622	MUTECT|MUSE	.	ATGAGCTGTTT	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000422581	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000512729	Transcript	.	.	ENSG00000179046	26378	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TRIMM_HUMAN	TRIML2	HGNC	.	.	UPI000007300A	SNV	TRIML2,missense_variant,p.Ala233Ser,ENST00000326754,;TRIML2,missense_variant,p.Ala208Ser,ENST00000512729,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;TRIML2,3_prime_UTR_variant,,ENST00000503141,;	997	30	25	SUCCESS
ALB	213	.	GRCh37	4	74272459	74272459	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	8	87	0	ENST00000295897.4:c.254del	p.Asn85IlefsTer56	p.N85Ifs*56	ENST00000295897	NM_000477.5	84	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS3555.1	251	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGCTGAAAATT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Asn85IlefsTer56,ENST00000509063,;ALB,frameshift_variant,p.Asn85IlefsTer56,ENST00000295897,;ALB,frameshift_variant,p.Asn87IlefsTer56,ENST00000441319,;ALB,frameshift_variant,p.Ile6LeufsTer2,ENST00000503124,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000507673,;	340	87	81	SUCCESS
ALB	213	.	GRCh37	4	74280793	74280793	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs918646680	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	123	0	ENST00000295897.4:c.1100T>C	p.Val367Ala	p.V367A	ENST00000295897	NM_000477.5	367	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3555.1	1100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTGTCGTGC	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.025)	.	tolerated(0.62)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Val367Ala,ENST00000509063,;ALB,missense_variant,p.Val212Ala,ENST00000511370,;ALB,missense_variant,p.Val175Ala,ENST00000415165,;ALB,missense_variant,p.Val367Ala,ENST00000295897,;ALB,missense_variant,p.Val217Ala,ENST00000503124,;ALB,missense_variant,p.Val252Ala,ENST00000401494,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,non_coding_transcript_exon_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;	1189	123	77	SUCCESS
PDHA2	5161	.	GRCh37	4	96761441	96761441	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs771226195	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	23	175	0	ENST00000295266.4:c.140G>T	p.Gly47Val	p.G47V	ENST00000295266	NM_005390.4	47	gGt/gTt	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS3644.1	140	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGGTCCCC	NONE	.	.	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	rs771226195	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.835)	.	deleterious(0.01)	.	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,missense_variant,p.Gly47Val,ENST00000295266,;	203	175	129	SUCCESS
DOCK2	1794	.	GRCh37	5	169507279	169507279	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs772593666	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	72	0	ENST00000256935.8:c.5279C>A	p.Thr1760Asn	p.T1760N	ENST00000256935	NM_004946.2	1760	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS4371.1	5279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTACCATCC	NONE	byFrequency	.	.	.	.	ENSP00000256935	.	50/52	.	.	.	.	.	.	.	.	rs772593666	50/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.347)	.	deleterious_low_confidence(0.01)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Thr821Asn,ENST00000540750,;DOCK2,missense_variant,p.Thr1760Asn,ENST00000256935,;DOCK2,missense_variant,p.Thr1252Asn,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	5359	72	83	SUCCESS
DOCK2	1794	.	GRCh37	5	169507280	169507280	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	71	0	ENST00000256935.8:c.5280C>A	p.Thr1760=	p.T1760=	ENST00000256935	NM_004946.2	1760	acC/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4371.1	5280	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACCATCCC	NONE	.	.	.	.	.	ENSP00000256935	.	50/52	.	.	.	.	.	.	.	.	.	50/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,synonymous_variant,p.%3D,ENST00000540750,;DOCK2,synonymous_variant,p.%3D,ENST00000256935,;DOCK2,synonymous_variant,p.%3D,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	5360	71	82	SUCCESS
TBC1D9B	23061	.	GRCh37	5	179302088	179302088	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1156632138	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	56	161	0	ENST00000356834.3:c.2000C>T	p.Ser667Leu	p.S667L	ENST00000356834	NM_198868.2	667	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS43408.1	2000	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGAGATG	NONE	.	.	Superfamily_domains:SSF47923,SMART_domains:SM00164,Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,PROSITE_profiles:PS50086	.	.	ENSP00000349291	.	12/22	.	.	.	.	.	.	.	.	.	12/22	PASS	ENST00000356834	Transcript	.	.	ENSG00000197226	29097	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TBC9B_HUMAN	TBC1D9B	HGNC	.	.	UPI000034ECFF	SNV	TBC1D9B,missense_variant,p.Ser667Leu,ENST00000355235,;TBC1D9B,missense_variant,p.Ser667Leu,ENST00000356834,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;TBC1D9B,upstream_gene_variant,,ENST00000444477,;TBC1D9B,upstream_gene_variant,,ENST00000519746,;TBC1D9B,upstream_gene_variant,,ENST00000522180,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518459,;TBC1D9B,downstream_gene_variant,,ENST00000518115,;TBC1D9B,upstream_gene_variant,,ENST00000522921,;TBC1D9B,upstream_gene_variant,,ENST00000521469,;TBC1D9B,upstream_gene_variant,,ENST00000521669,;TBC1D9B,upstream_gene_variant,,ENST00000520912,;TBC1D9B,upstream_gene_variant,,ENST00000519757,;	2038	161	154	SUCCESS
ANKRD55	79722	.	GRCh37	5	55422893	55422893	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs771561192	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	51	139	0	ENST00000341048.4:c.653A>C	p.His218Pro	p.H218P	ENST00000341048	NM_024669.2	218	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS34161.1	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTGATGG	NONE	.	.	PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF21,hmmpanther:PTHR24158,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000342295	.	8/12	.	.	.	.	.	.	.	.	rs771561192	8/12	PASS	ENST00000341048	Transcript	1	.	ENSG00000164512	25681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.16)	.	ANR55_HUMAN	ANKRD55	HGNC	.	.	UPI00004572EF	SNV	ANKRD55,missense_variant,p.His218Pro,ENST00000341048,;ANKRD55,missense_variant,p.His175Pro,ENST00000504958,;RNU6-299P,downstream_gene_variant,,ENST00000517223,;ANKRD55,intron_variant,,ENST00000505970,;	805	139	173	SUCCESS
TPPP	11076	.	GRCh37	5	677962	677962	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	65	164	1	ENST00000360578.5:c.214C>A	p.His72Asn	p.H72N	ENST00000360578	NM_007030.2	72	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS3856.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGTGCATCT	NONE	.	.	hmmpanther:PTHR12932,hmmpanther:PTHR12932:SF18,Gene3D:1.10.238.10,Pfam_domain:PF05517,Superfamily_domains:SSF47473	.	.	ENSP00000353785	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000360578	Transcript	.	.	ENSG00000171368	24164	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	tolerated(1)	.	TPPP_HUMAN	TPPP	HGNC	Q4L233_HUMAN	.	UPI0000130FB2	SNV	TPPP,missense_variant,p.His72Asn,ENST00000360578,;CTD-2589H19.6,downstream_gene_variant,,ENST00000607068,;	336	165	149	SUCCESS
PRDM13	59336	.	GRCh37	6	100057092	100057092	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	104	0	ENST00000369215.4:c.306G>T	p.Gln102His	p.Q102H	ENST00000369215	NM_021620.3	102	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS43487.1	306	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGCCAGG	NONE	.	.	PROSITE_profiles:PS50280,hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228,Gene3D:2.170.270.10,Superfamily_domains:SSF82199	.	.	ENSP00000358217	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000369215	Transcript	.	.	ENSG00000112238	13998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	deleterious(0.01)	.	PRD13_HUMAN	PRDM13	HGNC	Q7Z5E7_HUMAN	.	UPI000047099D	SNV	PRDM13,missense_variant,p.Gln102His,ENST00000369215,;PRDM13,missense_variant,p.Ala112Ser,ENST00000369214,;	611	104	91	SUCCESS
ZNF318	24149	.	GRCh37	6	43305929	43305929	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	14	119	0	ENST00000361428.2:c.5807G>A	p.Arg1936Lys	p.R1936K	ENST00000361428	NM_014345.2	1936	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS4895.2	5807	RADIA|MUTECT|MUSE|VARSCANS	.	GACTTCTGTAC	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.031)	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Arg1936Lys,ENST00000361428,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000605935,;	5885	120	102	SUCCESS
PKHD1	5314	.	GRCh37	6	51910977	51910977	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	142	0	ENST00000371117.3:c.2417T>C	p.Val806Ala	p.V806A	ENST00000371117	NM_138694.3	806	gTa/gCa	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS4935.1	2417	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTACAGGG	NONE	.	.	.	.	.	ENSP00000360158	.	24/67	.	.	.	.	.	.	.	.	.	24/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.076)	.	tolerated(0.17)	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,missense_variant,p.Val806Ala,ENST00000340994,;PKHD1,missense_variant,p.Val806Ala,ENST00000371117,;	2693	142	98	SUCCESS
COL12A1	1303	.	GRCh37	6	75847218	75847218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	114	0	ENST00000322507.8:c.5329A>G	p.Ser1777Gly	p.S1777G	ENST00000322507	NM_004370.5	1777	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS43482.1	5329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACTAGCAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	31/66	.	.	.	.	.	.	.	.	.	31/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.578)	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Ser1777Gly,ENST00000416123,;COL12A1,missense_variant,p.Ser1777Gly,ENST00000322507,;COL12A1,missense_variant,p.Ser512Gly,ENST00000419671,;COL12A1,missense_variant,p.Ser1777Gly,ENST00000483888,;COL12A1,missense_variant,p.Ser613Gly,ENST00000345356,;	5639	114	89	SUCCESS
TBX18	9096	.	GRCh37	6	85446692	85446699	+	frameshift_variant	Frame_Shift_Del	DEL	TGGTTAGT	TGGTTAGT	-	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	TGGTTAGT	TGGTTAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	96	25	165	0	ENST00000369663.5:c.1528_1535del	p.Thr510AspfsTer7	p.T510Dfs*7	ENST00000369663	NM_001080508.2	510	ACTAACCAg/g	0	.	.	.	.	.	-	TNQ/X	protein_coding	YES	CCDS34495.1	1528-1535	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGTCTGGTTAGTGGCGA	NONE	.	.	hmmpanther:PTHR11267:SF20,hmmpanther:PTHR11267	.	.	ENSP00000358677	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369663	Transcript	.	.	ENSG00000112837	11595	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBX18_HUMAN	TBX18	HGNC	U3KQQ9_HUMAN,U3KQ31_HUMAN	.	UPI00001A3A8A	deletion	TBX18,frameshift_variant,p.Thr510AspfsTer7,ENST00000369663,;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000607343,;	1866-1873	165	121	SUCCESS
ZAN	7455	.	GRCh37	7	100333379	100333379	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	339	43	339	0	ENST00000546292.1:c.90C>G	p.Arg30=	p.R30=	ENST00000546292	NM_173059.1	30	cgC/cgG	0	.	.	.	.	.	G	R	protein_coding	YES	.	90	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCGCAGCTC	NONE	.	.	.	.	.	ENSP00000445943	.	2/46	.	.	.	.	.	.	.	.	.	2/46	PASS	ENST00000546292	Transcript	.	.	ENSG00000146839	12857	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZAN	HGNC	F5H0T8_HUMAN	.	UPI00004575C6	SNV	ZAN,synonymous_variant,p.%3D,ENST00000546292,;ZAN,synonymous_variant,p.%3D,ENST00000542585,;ZAN,synonymous_variant,p.%3D,ENST00000538115,;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,synonymous_variant,p.%3D,ENST00000421100,;ZAN,synonymous_variant,p.%3D,ENST00000349350,;ZAN,synonymous_variant,p.%3D,ENST00000427578,;ZAN,synonymous_variant,p.%3D,ENST00000348028,;ZAN,synonymous_variant,p.%3D,ENST00000449052,;ZAN,synonymous_variant,p.%3D,ENST00000443370,;	238	339	382	SUCCESS
ZNF800	168850	.	GRCh37	7	127014205	127014205	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	23	126	0	ENST00000265827.3:c.1185del	p.Gly396AlafsTer11	p.G396Afs*11	ENST00000265827	NM_176814.3	395	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS5795.1	1185	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGCCTTTTTC	NONE	.	.	hmmpanther:PTHR21020	.	.	ENSP00000376989	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000393313	Transcript	.	.	ENSG00000048405	27267	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN800_HUMAN	ZNF800	HGNC	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN	.	UPI000020FA03	deletion	ZNF800,frameshift_variant,p.Gly396AlafsTer11,ENST00000393312,;ZNF800,frameshift_variant,p.Gly396AlafsTer11,ENST00000393313,;ZNF800,frameshift_variant,p.Gly396AlafsTer11,ENST00000265827,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000434602,;ZNF800,upstream_gene_variant,,ENST00000485577,;	1777	126	172	SUCCESS
DPP6	1804	.	GRCh37	7	154667719	154667719	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1443134542	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	97	0	ENST00000377770.3:c.1987C>T	p.Arg663Cys	p.R663C	ENST00000377770		663	Cgt/Tgt	0	.	.	.	.	.	T	R/C	protein_coding	YES	.	1987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGCCGTGGC	NONE	.	.	Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00326,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	.	.	ENSP00000367001	.	20/26	.	.	.	.	.	.	.	.	.	20/26	PASS	ENST00000377770	Transcript	.	.	ENSG00000130226	3010	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	DPP6_HUMAN	DPP6	HGNC	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN	.	UPI00001AE746	SNV	DPP6,missense_variant,p.Arg556Cys,ENST00000427557,;DPP6,missense_variant,p.Arg663Cys,ENST00000377770,;DPP6,missense_variant,p.Arg601Cys,ENST00000332007,;DPP6,missense_variant,p.Arg599Cys,ENST00000404039,;DPP6,non_coding_transcript_exon_variant,,ENST00000479637,;DPP6,non_coding_transcript_exon_variant,,ENST00000484789,;DPP6,non_coding_transcript_exon_variant,,ENST00000488512,;	2128	97	84	SUCCESS
PCLO	27445	.	GRCh37	7	82545902	82545902	+	synonymous_variant	Silent	SNP	G	G	A	rs764033539	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	8	140	0	ENST00000333891.9:c.11400C>T	p.Tyr3800=	p.Y3800=	ENST00000333891	NM_033026.5	3800	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS47630.1	11400	MUTECT|MUSE	.	TCCAGGTATCG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	7/25	.	.	.	.	.	.	.	.	rs764033539,COSM1550556,COSM1550555	7/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	.	.	.	0,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000437081,;PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;	11738	140	121	SUCCESS
CYP3A5	1577	.	GRCh37	7	99273872	99273872	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	37	128	0	ENST00000222982.4:c.72-41A>G		p.*24*	ENST00000222982	NM_000777.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5672.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACTTTATA	NONE	.	.	.	.	.	ENSP00000222982	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000222982	Transcript	.	.	ENSG00000106258	2638	.	.	MODIFIER	1/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP3A5_HUMAN	CYP3A5	HGNC	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN	.	UPI000000163D	SNV	CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,intron_variant,,ENST00000222982,;CYP3A5,intron_variant,,ENST00000439761,;CYP3A5,intron_variant,,ENST00000343703,;CYP3A5,intron_variant,,ENST00000480723,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,intron_variant,,ENST00000466061,;CYP3A5,intron_variant,,ENST00000489231,;CYP3A5,intron_variant,,ENST00000463907,;CYP3A5,intron_variant,,ENST00000456417,;CYP3A5,intron_variant,,ENST00000463364,;CYP3A5,intron_variant,,ENST00000469622,;	.	128	125	SUCCESS
COL22A1	169044	.	GRCh37	8	139601631	139601631	+	synonymous_variant	Silent	SNP	G	G	A	rs760161445	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	286	31	224	0	ENST00000303045.6:c.4746C>T	p.Gly1582=	p.G1582=	ENST00000303045	NM_152888.1	1582	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS6376.1	4746	MUTECT|MUSE|VARSCANS	.	TGAGGGCCAGG	NONE	byFrequency	.	hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	.	.	ENSP00000303153	.	65/65	.	.	.	.	.	.	.	.	rs760161445	65/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,synonymous_variant,p.%3D,ENST00000303045,;COL22A1,synonymous_variant,p.%3D,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	5193	224	318	SUCCESS
WWP1	11059	.	GRCh37	8	87423833	87423833	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	41	151	1	ENST00000265428.4:c.791C>G	p.Ser264Cys	p.S264C	ENST00000265428		264	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS6242.1	791	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCTGAAG	NONE	.	.	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,PIRSF_domain:PIRSF001569	.	.	ENSP00000427793	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000517970	Transcript	.	.	ENSG00000123124	17004	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.503)	.	deleterious(0.02)	.	WWP1_HUMAN	WWP1	HGNC	H0YBS9_HUMAN	.	UPI0000035537	SNV	WWP1,missense_variant,p.Ser46Cys,ENST00000349423,;WWP1,missense_variant,p.Ser134Cys,ENST00000341922,;WWP1,missense_variant,p.Ser264Cys,ENST00000517970,;WWP1,missense_variant,p.Ser264Cys,ENST00000265428,;WWP1,non_coding_transcript_exon_variant,,ENST00000520374,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;	1098	152	210	SUCCESS
CDH17	1015	.	GRCh37	8	95206861	95206861	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	136	129	1	ENST00000027335.3:c.51+2T>A		p.X17_splice	ENST00000027335	NM_004063.3	17		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6260.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTACCAAA	NONE	.	.	.	.	.	ENSP00000027335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000027335	Transcript	.	.	ENSG00000079112	1756	.	.	HIGH	2/17	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAD17_HUMAN	CDH17	HGNC	E5RJT3_HUMAN	.	UPI000013C546	SNV	CDH17,splice_donor_variant,,ENST00000441892,;CDH17,splice_donor_variant,,ENST00000450165,;CDH17,splice_donor_variant,,ENST00000521491,;CDH17,splice_donor_variant,,ENST00000027335,;	.	131	218	SUCCESS
TRIM32	22954	.	GRCh37	9	119460448	119460448	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	47	102	0	ENST00000373983.2:c.427G>A	p.Glu143Lys	p.E143K	ENST00000373983		143	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS6817.1	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGAGGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308,Superfamily_domains:SSF57845	.	.	ENSP00000408292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000450136	Transcript	.	.	ENSG00000119401	16380	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0.01)	.	TRI32_HUMAN	TRIM32	HGNC	Q5JVY0_HUMAN	.	UPI000012CDB9	SNV	TRIM32,missense_variant,p.Glu143Lys,ENST00000411410,;TRIM32,missense_variant,p.Glu143Lys,ENST00000373983,;TRIM32,missense_variant,p.Glu143Lys,ENST00000450136,;ASTN2,intron_variant,,ENST00000373996,;ASTN2,intron_variant,,ENST00000373986,;ASTN2,intron_variant,,ENST00000361209,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000361477,;	588	102	98	SUCCESS
TOPORS	10210	.	GRCh37	9	32543499	32543499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	14	64	0	ENST00000360538.2:c.1024C>T	p.Pro342Ser	p.P342S	ENST00000360538	NM_005802.4	342	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS6527.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGTCTTA	NONE	.	.	hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456	.	.	ENSP00000353735	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.925)	.	tolerated(0.06)	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,missense_variant,p.Pro342Ser,ENST00000360538,;TOPORS,missense_variant,p.Pro277Ser,ENST00000379858,;AL353671.2,upstream_gene_variant,,ENST00000359975,;AL353671.1,downstream_gene_variant,,ENST00000366355,;	1141	64	66	SUCCESS
TRPM3	80036	.	GRCh37	9	73213415	73213415	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	137	27	163	0	ENST00000377110.3:c.2932A>T	p.Ile978Phe	p.I978F	ENST00000377110		978	Att/Ttt	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS43835.1	2932	RADIA|MUTECT|MUSE|VARSCANS	.	GTAAATGATGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7,Pfam_domain:PF00520	.	.	ENSP00000366314	.	20/25	.	.	.	.	.	.	.	.	COSM3907813,COSM3907814,COSM3907812,COSM3907815	20/25	PASS	ENST00000377110	Transcript	.	.	ENSG00000083067	17992	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	1,1,1,1	TRPM3_HUMAN	TRPM3	HGNC	.	.	UPI0001596895	SNV	TRPM3,missense_variant,p.Ile978Phe,ENST00000377111,;TRPM3,missense_variant,p.Ile850Phe,ENST00000377106,;TRPM3,missense_variant,p.Ile840Phe,ENST00000360823,;TRPM3,missense_variant,p.Ile840Phe,ENST00000358082,;TRPM3,missense_variant,p.Ile850Phe,ENST00000396292,;TRPM3,missense_variant,p.Ile827Phe,ENST00000396280,;TRPM3,missense_variant,p.Ile1005Phe,ENST00000423814,;TRPM3,missense_variant,p.Ile837Phe,ENST00000408909,;TRPM3,missense_variant,p.Ile982Phe,ENST00000357533,;TRPM3,missense_variant,p.Ile978Phe,ENST00000377110,;TRPM3,missense_variant,p.Ile837Phe,ENST00000377105,;TRPM3,missense_variant,p.Ile825Phe,ENST00000396285,;	3176	163	164	SUCCESS
UPF3B	65109	.	GRCh37	X	118975107	118975108	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	37	0	ENST00000276201.2:c.738dup	p.Ile247TyrfsTer19	p.I247Yfs*19	ENST00000276201	NM_080632.2	246	-/T	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS14588.1	738-739	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTATATCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF1	.	.	ENSP00000276201	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000276201	Transcript	.	.	ENSG00000125351	20439	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REN3B_HUMAN	UPF3B	HGNC	I3XIE4_HUMAN	.	UPI000006D21C	insertion	UPF3B,frameshift_variant,p.Ile247TyrfsTer19,ENST00000345865,;UPF3B,frameshift_variant,p.Ile247TyrfsTer19,ENST00000276201,;UPF3B,non_coding_transcript_exon_variant,,ENST00000478840,;	808-809	37	79	SUCCESS
NLGN4Y	22829	.	GRCh37	Y	16941993	16942017	+	protein_altering_variant	In_Frame_Del	DEL	GTGTCCAACTTCGTGGACAACCTTT	GTGTCCAACTTCGTGGACAACCTTT	CTTC	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	GTGTCCAACTTCGTGGACAACCTTT	GTGTCCAACTTCGTGGACAACCTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	167	68	265	0	ENST00000339174.5:c.1195_1219delinsCTTC	p.Val399_Tyr407delinsLeuHis	p.V399_Y407delinsLH	ENST00000339174		399	GTGTCCAACTTCGTGGACAACCTTTac/CTTCac	0	.	.	.	.	.	CTTC	VSNFVDNLY/LH	protein_coding	YES	CCDS14788.1	1195-1219	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTCCGTGTCCAACTTCGTGGACAACCTTTACGGC	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF195,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000348169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000355905	Transcript	.	.	ENSG00000165246	15529	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NLGNY_HUMAN	NLGN4Y	HGNC	.	.	UPI000004770C	substitution	NLGN4Y,protein_altering_variant,p.Val399_Tyr407delinsLeuHis,ENST00000339174,;NLGN4Y,protein_altering_variant,p.Val399_Tyr407delinsLeuHis,ENST00000355905,;NLGN4Y,protein_altering_variant,p.Val456_Tyr464delinsLeuHis,ENST00000382868,;NLGN4Y,protein_altering_variant,p.Val231_Tyr239delinsLeuHis,ENST00000382872,;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	1447-1471	265	235	SUCCESS
NLGN4Y	22829	.	GRCh37	Y	16942005	16942017	+	frameshift_variant	Frame_Shift_Del	DEL	GTGGACAACCTTT	GTGGACAACCTTT	-	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	GTGGACAACCTTT	GTGGACAACCTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	115	0	ENST00000339174.5:c.1207_1219del	p.Val403ThrfsTer74	p.V403Tfs*74	ENST00000339174		403	GTGGACAACCTTTac/ac	0	.	.	.	.	.	-	VDNLY/X	protein_coding	YES	CCDS14788.1	1207-1219	INDELOCATOR|VARSCANI	.	AACTTCGTGGACAACCTTTACGGC	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF195,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000348169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000355905	Transcript	.	.	ENSG00000165246	15529	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NLGNY_HUMAN	NLGN4Y	HGNC	.	.	UPI000004770C	deletion	NLGN4Y,frameshift_variant,p.Val403ThrfsTer74,ENST00000339174,;NLGN4Y,frameshift_variant,p.Val403ThrfsTer74,ENST00000355905,;NLGN4Y,frameshift_variant,p.Val460ThrfsTer74,ENST00000382868,;NLGN4Y,frameshift_variant,p.Val235ThrfsTer74,ENST00000382872,;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	1459-1471	115	73	SUCCESS
NLGN4Y	22829	.	GRCh37	Y	16942017	16942017	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	113	0	ENST00000339174.5:c.1219T>C	p.Tyr407His	p.Y407H	ENST00000339174		407	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS14788.1	1219	SOMATICSNIPER|VARSCANS	.	ACCTTTACGGC	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF195,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	.	.	ENSP00000348169	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000355905	Transcript	.	.	ENSG00000165246	15529	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NLGNY_HUMAN	NLGN4Y	HGNC	.	.	UPI000004770C	SNV	NLGN4Y,missense_variant,p.Tyr407His,ENST00000339174,;NLGN4Y,missense_variant,p.Tyr407His,ENST00000355905,;NLGN4Y,missense_variant,p.Tyr464His,ENST00000382868,;NLGN4Y,missense_variant,p.Tyr239His,ENST00000382872,;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	1471	113	76	SUCCESS
NKX2-3	159296	.	GRCh37	10	101295226	101295226	+	synonymous_variant	Silent	SNP	C	C	A	rs10082511	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	27	0	ENST00000344586.7:c.843C>A	p.Ala281=	p.A281=	ENST00000344586	NM_145285.2	281	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS41558.1	843	RADIA|MUTECT	.	GCCGCCGCAGC	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24340:SF32,hmmpanther:PTHR24340	.	.	ENSP00000342828	.	2/2	.	.	.	.	.	.	.	.	rs10082511	2/2	PASS	ENST00000344586	Transcript	.	.	ENSG00000119919	7836	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NKX23_HUMAN	NKX2-3	HGNC	.	.	UPI00001301E8	SNV	NKX2-3,synonymous_variant,p.%3D,ENST00000344586,;RP11-129J12.2,upstream_gene_variant,,ENST00000548010,;	1042	27	24	SUCCESS
SORCS1	114815	.	GRCh37	10	108489808	108489808	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs576574267	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	4	80	0	ENST00000263054.6:c.1024C>T	p.His342Tyr	p.H342Y	ENST00000263054	NM_001206570.1	342	Cat/Tat	0	.	A:0	.	A:0	.	A	H/Y	protein_coding	YES	CCDS31283.1	1024	MUTECT|MUSE	.	CTTACGACCAT	NONE	by1000G	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106,SMART_domains:SM00602	A:0	.	ENSP00000345964	A:0	6/27	.	.	.	.	.	.	.	.	rs576574267,COSM914667,COSM914666	6/27	PASS	ENST00000344440	Transcript	.	A:0.0002	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1,1	.	.	benign(0.013)	A:0.001	tolerated(1)	0,1,1	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.His342Tyr,ENST00000263054,;SORCS1,missense_variant,p.His342Tyr,ENST00000344440,;	1024	80	92	SUCCESS
PRTFDC1	56952	.	GRCh37	10	25140374	25140374	+	synonymous_variant	Silent	SNP	T	T	C	rs773607915	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	38	0	ENST00000320152.6:c.573A>G	p.Pro191=	p.P191=	ENST00000320152	NM_020200.5	191	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7145.1	573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTTGGAAT	NONE	.	.	Superfamily_domains:SSF53271,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01203,hmmpanther:PTHR22573:SF35,hmmpanther:PTHR22573	.	.	ENSP00000318602	.	8/9	.	.	.	.	.	.	.	.	rs773607915	8/9	PASS	ENST00000320152	Transcript	.	.	ENSG00000099256	23333	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDC1_HUMAN	PRTFDC1	HGNC	.	.	UPI0000073D65	SNV	PRTFDC1,synonymous_variant,p.%3D,ENST00000320152,;PRTFDC1,intron_variant,,ENST00000376378,;	602	38	35	SUCCESS
UBE4A	9354	.	GRCh37	11	118242363	118242363	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	50	0	ENST00000252108.3:c.543C>T	p.Phe181=	p.F181=	ENST00000252108	NM_001204077.1	181	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS8396.1	543	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCAGAG	NONE	.	.	hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF2	.	.	ENSP00000387362	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000431736	Transcript	.	.	ENSG00000110344	12499	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE4A_HUMAN	UBE4A	HGNC	B7Z7P0_HUMAN	.	UPI000013CD3F	SNV	UBE4A,synonymous_variant,p.%3D,ENST00000252108,;UBE4A,synonymous_variant,p.%3D,ENST00000431736,;	615	50	33	SUCCESS
HIPK3	10114	.	GRCh37	11	33350093	33350093	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	60	0	ENST00000303296.4:c.1135G>A	p.Ala379Thr	p.A379T	ENST00000303296	NM_005734.4	379	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS7884.1	1135	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAGCCATA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000304226	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000303296	Transcript	.	.	ENSG00000110422	4915	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	HIPK3_HUMAN	HIPK3	HGNC	E9PKD7_HUMAN	.	UPI000006D7F8	SNV	HIPK3,missense_variant,p.Ala379Thr,ENST00000525975,;HIPK3,missense_variant,p.Ala379Thr,ENST00000456517,;HIPK3,missense_variant,p.Ala379Thr,ENST00000379016,;HIPK3,missense_variant,p.Ala379Thr,ENST00000303296,;HIPK3,upstream_gene_variant,,ENST00000534262,;	1440	60	49	SUCCESS
OR5D14	219436	.	GRCh37	11	55563748	55563748	+	synonymous_variant	Silent	SNP	C	C	T	rs764256582	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	95	0	ENST00000335605.1:c.717C>T	p.Ala239=	p.A239=	ENST00000335605	NM_001004735.1	239	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31508.1	717	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCCTTCTC	BUFFER|p.R236C|c.706C>T|4,BUFFER|p.R236H|c.707G>A|4	byFrequency	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000334456	.	1/1	.	.	.	.	.	.	.	.	rs764256582	1/1	PASS	ENST00000335605	Transcript	.	.	ENSG00000186113	15281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5DE_HUMAN	OR5D14	HGNC	.	.	UPI000004B1F6	SNV	OR5D14,synonymous_variant,p.%3D,ENST00000335605,;	717	95	92	SUCCESS
OR5M10	390167	.	GRCh37	11	56344387	56344387	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	62	190	0	ENST00000526812.2:c.811T>A	p.Ser271Thr	p.S271T	ENST00000526812	NM_001004741.1	271	Tcc/Acc	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS53630.1	811	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGACTCCT	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,PROSITE_profiles:PS50262	.	.	ENSP00000436004	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526812	Transcript	.	.	ENSG00000254834	15290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.05)	.	OR5MA_HUMAN	OR5M10	HGNC	.	.	UPI0000041BEE	SNV	OR5M10,missense_variant,p.Ser271Thr,ENST00000526812,;	877	190	215	SUCCESS
NPAS4	266743	.	GRCh37	11	66188745	66188745	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1222029595	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	62	225	0	ENST00000311034.2:c.95C>T	p.Ala32Val	p.A32V	ENST00000311034	NM_178864.3	32	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8138.1	95	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAAGCGGACA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Gene3D:4.10.280.10,hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043,PROSITE_profiles:PS50888	.	.	ENSP00000311196	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000311034	Transcript	.	.	ENSG00000174576	18983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0.05)	.	NPAS4_HUMAN	NPAS4	HGNC	.	.	UPI0000074744	SNV	NPAS4,missense_variant,p.Ala32Val,ENST00000311034,;RP11-867G23.10,downstream_gene_variant,,ENST00000533759,;RP11-867G23.10,downstream_gene_variant,,ENST00000526186,;NPAS4,missense_variant,p.Ala32Val,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;	271	225	171	SUCCESS
MRPS35	60488	.	GRCh37	12	27863799	27863799	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149994546	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	17	0	ENST00000081029.3:c.23C>T	p.Ala8Val	p.A8V	ENST00000081029	NM_021821.3	8	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8714.1	23	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCATGGC	NONE	.	.	.	.	.	ENSP00000081029	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000081029	Transcript	.	.	ENSG00000061794	16635	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.014)	.	tolerated_low_confidence(0.6)	.	RT35_HUMAN	MRPS35	HGNC	.	.	UPI000003B0E7	SNV	MRPS35,missense_variant,p.Ala8Val,ENST00000538315,;MRPS35,missense_variant,p.Ala7Val,ENST00000542791,;MRPS35,missense_variant,p.Ala8Val,ENST00000081029,;RP11-1060J15.7,downstream_gene_variant,,ENST00000538640,;RP11-1060J15.4,upstream_gene_variant,,ENST00000542660,;RP11-1060J15.4,upstream_gene_variant,,ENST00000536317,;MRPS35,missense_variant,p.Ala8Val,ENST00000536569,;MRPS35,upstream_gene_variant,,ENST00000542199,;	94	17	17	SUCCESS
TIMELESS	8914	.	GRCh37	12	56817448	56817448	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	3	52	0	ENST00000553532.1:c.2010G>A	p.Glu670=	p.E670=	ENST00000553532		670	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8918.1	2010	MUTECT|MUSE	.	TCCTCCTCTTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	17/29	.	.	.	.	.	.	.	.	COSM468676	17/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,synonymous_variant,p.%3D,ENST00000553532,;TIMELESS,synonymous_variant,p.%3D,ENST00000229201,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,upstream_gene_variant,,ENST00000553314,;TIMELESS,upstream_gene_variant,,ENST00000555808,;	2161	52	51	SUCCESS
PZP	5858	.	GRCh37	12	9345225	9345240	+	frameshift_variant	Frame_Shift_Del	DEL	AATGTAACTTCCACTT	AATGTAACTTCCACTT	-	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	AATGTAACTTCCACTT	AATGTAACTTCCACTT	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	74	0	ENST00000261336.2:c.1350_1365del	p.Leu450PhefsTer24	p.L450Ffs*24	ENST00000261336	NM_002864.2	450	ttAAGTGGAAGTTACATT/tt	0	.	.	.	.	.	-	LSGSYI/X	protein_coding	YES	CCDS8600.1	1350-1365	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGTGAATGTAACTTCCACTTAAGGA	NONE	.	.	Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	.	.	ENSP00000261336	.	12/36	.	.	.	.	.	.	.	.	.	12/36	PASS	ENST00000261336	Transcript	.	.	ENSG00000126838	9750	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PZP_HUMAN	PZP	HGNC	.	.	UPI000013D168	deletion	PZP,frameshift_variant,p.Leu450PhefsTer24,ENST00000261336,;PZP,frameshift_variant,p.Leu319PhefsTer24,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;	1379-1394	74	80	SUCCESS
ZMYM2	7750	.	GRCh37	13	20567236	20567236	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	36	110	0	ENST00000382871.2:c.24A>G	p.Gly8=	p.G8=	ENST00000382871		8	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS45016.1	24	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGATTAGA	NONE	.	.	.	.	.	ENSP00000372322	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000382869	Transcript	.	.	ENSG00000121741	12989	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYM2_HUMAN	ZMYM2	HGNC	.	.	UPI000013C318	SNV	ZMYM2,synonymous_variant,p.%3D,ENST00000382881,;ZMYM2,synonymous_variant,p.%3D,ENST00000382869,;ZMYM2,synonymous_variant,p.%3D,ENST00000382871,;ZMYM2,synonymous_variant,p.%3D,ENST00000382874,;	275	110	151	SUCCESS
RB1	5925	.	GRCh37	13	48923090	48923090	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	35	0	ENST00000267163.4:c.540-2A>T		p.X180_splice	ENST00000267163	NM_000321.2	180		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31973.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATAGGATA	NONE	.	.	.	.	.	ENSP00000267163	.	.	.	.	.	.	.	.	.	.	CS030548	.	PASS	ENST00000267163	Transcript	.	.	ENSG00000139687	9884	.	.	HIGH	5/26	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	RB_HUMAN	RB1	HGNC	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN	.	UPI0000001C79	SNV	RB1,splice_acceptor_variant,,ENST00000267163,;RB1,splice_acceptor_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	.	35	32	SUCCESS
ASPG	374569	.	GRCh37	14	104578313	104578313	+	synonymous_variant	Silent	SNP	G	G	A	rs374185145	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	30	192	1	ENST00000551177.1:c.1677G>A	p.Ala559=	p.A559=	ENST00000551177	NM_001080464.2	559	gcG/gcA	0	A:0	A:0.0008	.	A:0	.	A	A	protein_coding	YES	CCDS45170.2	1677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCGGTTGG	NONE	byCluster|by1000G	.	SMART_domains:SM00248,Superfamily_domains:SSF48403	A:0	A:0.0001	ENSP00000450040	A:0	15/16	.	.	.	.	.	.	.	.	rs374185145	15/16	PASS	ENST00000551177	Transcript	.	A:0.0002	ENSG00000166183	20123	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LPP60_HUMAN	ASPG	HGNC	.	.	UPI00001D7B76	SNV	ASPG,missense_variant,p.Arg526Gln,ENST00000546892,;ASPG,synonymous_variant,p.%3D,ENST00000551177,;ASPG,synonymous_variant,p.%3D,ENST00000455920,;ASPG,synonymous_variant,p.%3D,ENST00000550583,;ASPG,downstream_gene_variant,,ENST00000549809,;ASPG,downstream_gene_variant,,ENST00000552126,;ASPG,non_coding_transcript_exon_variant,,ENST00000551871,;ASPG,downstream_gene_variant,,ENST00000548372,;	1769	193	117	SUCCESS
AHNAK2	113146	.	GRCh37	14	105406860	105406860	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	137	0	ENST00000333244.5:c.14928C>T	p.Asp4976=	p.D4976=	ENST00000333244	NM_138420.2	4976	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS45177.1	14928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGTCCAC	NONE	.	.	.	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,synonymous_variant,p.%3D,ENST00000333244,;AHNAK2,5_prime_UTR_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	15048	137	90	SUCCESS
NFATC4	4776	.	GRCh37	14	24845640	24845640	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755075807	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	83	0	ENST00000250373.4:c.2197G>A	p.Glu733Lys	p.E733K	ENST00000250373	NM_004554.4	733	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45089.1	2386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGAAACT	NONE	byFrequency	.	hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9	.	.	ENSP00000388910	.	10/10	.	.	.	.	.	.	.	.	rs755075807	10/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	tolerated_low_confidence(0.31)	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,missense_variant,p.Glu733Lys,ENST00000554050,;NFATC4,missense_variant,p.Glu721Lys,ENST00000422617,;NFATC4,missense_variant,p.Glu733Lys,ENST00000250373,;NFATC4,missense_variant,p.Glu268Lys,ENST00000554473,;NFATC4,missense_variant,p.Glu746Lys,ENST00000555590,;NFATC4,missense_variant,p.Glu721Lys,ENST00000556169,;NFATC4,missense_variant,p.Glu765Lys,ENST00000553469,;NFATC4,missense_variant,p.Glu765Lys,ENST00000539237,;NFATC4,missense_variant,p.Glu663Lys,ENST00000554661,;NFATC4,missense_variant,p.Glu268Lys,ENST00000555167,;NFATC4,missense_variant,p.Glu721Lys,ENST00000555453,;NFATC4,missense_variant,p.Glu733Lys,ENST00000553708,;NFATC4,missense_variant,p.Glu663Lys,ENST00000557451,;NFATC4,missense_variant,p.Glu796Lys,ENST00000413692,;NFATC4,missense_variant,p.Glu765Lys,ENST00000556279,;NFATC4,missense_variant,p.Glu663Lys,ENST00000553879,;NFATC4,missense_variant,p.Glu21Lys,ENST00000557767,;NFATC4,missense_variant,p.Glu746Lys,ENST00000424781,;NFATC4,missense_variant,p.Glu796Lys,ENST00000554591,;NFATC4,missense_variant,p.Glu268Lys,ENST00000556759,;NFATC4,missense_variant,p.Glu21Lys,ENST00000555802,;NFATC4,missense_variant,p.Glu21Lys,ENST00000555393,;NFATC4,missense_variant,p.Glu746Lys,ENST00000554966,;NFATC4,missense_variant,p.Glu663Lys,ENST00000554344,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,intron_variant,,ENST00000555821,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,downstream_gene_variant,,ENST00000557028,;NFATC4,downstream_gene_variant,,ENST00000556957,;NFATC4,downstream_gene_variant,,ENST00000556302,;	2530	83	64	SUCCESS
SEL1L	6400	.	GRCh37	14	82000074	82000074	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746774740	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	96	0	ENST00000336735.4:c.15A>G	p.Ile5Met	p.I5M	ENST00000336735	NM_005065.5	5	atA/atG	0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS9876.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTATCCG	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102	.	.	ENSP00000337053	.	1/21	.	.	.	.	.	.	.	.	rs746774740	1/21	PASS	ENST00000336735	Transcript	.	.	ENSG00000071537	10717	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	deleterious_low_confidence(0.02)	.	SE1L1_HUMAN	SEL1L	HGNC	.	.	UPI0000135746	SNV	SEL1L,missense_variant,p.Ile5Met,ENST00000336735,;SEL1L,missense_variant,p.Ile5Met,ENST00000557372,;SEL1L,missense_variant,p.Ile5Met,ENST00000555824,;	132	96	99	SUCCESS
NEO1	4756	.	GRCh37	15	73408928	73408928	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs764492714	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	44	0	ENST00000261908.6:c.178G>C	p.Val60Leu	p.V60L	ENST00000261908	NM_002499.3	60	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS10247.1	178	MUTECT|MUSE	.	AGCCGGTGGAT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000341198	.	3/30	.	.	.	.	.	.	.	.	rs764492714	3/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.37)	.	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,missense_variant,p.Val60Leu,ENST00000261908,;NEO1,missense_variant,p.Val60Leu,ENST00000558964,;NEO1,missense_variant,p.Val60Leu,ENST00000339362,;NEO1,missense_variant,p.Val60Leu,ENST00000560262,;	625	44	43	SUCCESS
CHD9	80205	.	GRCh37	16	53338133	53338133	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	30	0	ENST00000398510.3:c.6215T>C	p.Leu2072Pro	p.L2072P	ENST00000398510		2072	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS45485.1	6215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACTAATAA	NONE	.	.	.	.	.	ENSP00000457466	.	31/39	.	.	.	.	.	.	.	.	.	31/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.515)	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,missense_variant,p.Leu2072Pro,ENST00000566029,;CHD9,missense_variant,p.Leu2072Pro,ENST00000447540,;CHD9,missense_variant,p.Leu2072Pro,ENST00000564845,;CHD9,missense_variant,p.Leu2072Pro,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;RP11-454F8.2,downstream_gene_variant,,ENST00000566796,;	6424	30	43	SUCCESS
TANGO6	79613	.	GRCh37	16	69056820	69056820	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs753539871	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	83	0	ENST00000261778.1:c.2932T>G	p.Leu978Val	p.L978V	ENST00000261778	NM_024562.1	978	Ttg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS45516.1	2932	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCTTGGCC	NONE	byFrequency	.	hmmpanther:PTHR20959:SF1,hmmpanther:PTHR20959,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000261778	.	16/18	.	.	.	.	.	.	.	.	rs753539871	16/18	PASS	ENST00000261778	Transcript	.	.	ENSG00000103047	25749	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.502)	.	tolerated(0.06)	.	TNG6_HUMAN	TANGO6	HGNC	B3KTB6_HUMAN	.	UPI00001FF4A8	SNV	TANGO6,missense_variant,p.Leu978Val,ENST00000261778,;TANGO6,non_coding_transcript_exon_variant,,ENST00000562000,;TANGO6,upstream_gene_variant,,ENST00000561931,;TANGO6,non_coding_transcript_exon_variant,,ENST00000568361,;RP11-123C5.5,downstream_gene_variant,,ENST00000604510,;	2944	83	43	SUCCESS
CDK12	51755	.	GRCh37	17	37619208	37619208	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs749865286	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	32	120	0	ENST00000447079.4:c.884A>G	p.Tyr295Cys	p.Y295C	ENST00000447079	NM_015083.1	295	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS11337.1	884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTACAGTA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000398880	.	1/14	.	.	.	.	.	.	.	.	rs749865286	1/14	PASS	ENST00000447079	Transcript	.	.	ENSG00000167258	24224	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CDK12_HUMAN	CDK12	HGNC	.	.	UPI000013E688	SNV	CDK12,missense_variant,p.Tyr295Cys,ENST00000447079,;CDK12,missense_variant,p.Tyr295Cys,ENST00000584632,;CDK12,missense_variant,p.Tyr295Cys,ENST00000430627,;	917	120	104	SUCCESS
KRT34	3885	.	GRCh37	17	39535325	39535325	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	24	71	0	ENST00000394001.1:c.1106A>T	p.Glu369Val	p.E369V	ENST00000394001	NM_021013.3	369	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS11390.1	1106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCTCTGCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF165,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	.	ENSP00000377570	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000394001	Transcript	.	.	ENSG00000131737	6452	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	KRT34_HUMAN	KRT34	HGNC	.	.	UPI000013CD0C	SNV	KRT34,missense_variant,p.Glu369Val,ENST00000394001,;	1137	71	85	SUCCESS
HOXB2	3212	.	GRCh37	17	46620596	46620596	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751510659	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	64	0	ENST00000330070.4:c.905C>A	p.Pro302His	p.P302H	ENST00000330070	NM_002145.3	302	cCt/cAt	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS11527.1	905	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGGTGAA	NONE	byFrequency	.	hmmpanther:PTHR24326:SF179,hmmpanther:PTHR24326	.	.	ENSP00000331741	.	2/2	.	.	.	.	.	.	.	.	rs751510659	2/2	PASS	ENST00000330070	Transcript	.	.	ENSG00000173917	5113	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	HXB2_HUMAN	HOXB2	HGNC	D3DTV2_HUMAN	.	UPI000012CF4C	SNV	HOXB2,missense_variant,p.Pro302His,ENST00000330070,;HOXB-AS1,upstream_gene_variant,,ENST00000508688,;HOXB-AS1,upstream_gene_variant,,ENST00000502764,;HOXB-AS1,upstream_gene_variant,,ENST00000435312,;HOXB-AS1,upstream_gene_variant,,ENST00000504972,;HOXB2,non_coding_transcript_exon_variant,,ENST00000571287,;HOXB2,upstream_gene_variant,,ENST00000504772,;HOXB2,downstream_gene_variant,,ENST00000574746,;	2073	64	61	SUCCESS
GPR142	350383	.	GRCh37	17	72367914	72367914	+	synonymous_variant	Silent	SNP	C	C	T	rs757229629	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	59	0	ENST00000335666.4:c.564C>T	p.Thr188=	p.T188=	ENST00000335666	NM_181790.1	188	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11698.1	564	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACCAGGAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF48,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	.	.	ENSP00000335158	.	4/4	.	.	.	.	.	.	.	.	rs757229629	4/4	PASS	ENST00000335666	Transcript	.	.	ENSG00000257008	20088	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP142_HUMAN	GPR142	HGNC	.	.	UPI00001AA7F1	SNV	GPR142,synonymous_variant,p.%3D,ENST00000335666,;GPR142,3_prime_UTR_variant,,ENST00000585308,;GPR142,3_prime_UTR_variant,,ENST00000582579,;	612	59	34	SUCCESS
TP53	7157	.	GRCh37	17	7576928	7576928	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	rs397516439	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	181	0	ENST00000269305.4:c.920-2A>G		p.X307_splice	ENST00000269305	NM_001126112.2	307		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	likely_pathogenic	AGTGCTAGGAA	SITE|p.?|c.920-2A>G|6,SITE|p.?|c.920-2A>G|21,SITE|p.?|c.920-2A>G|5,SITE|p.?|c.920-2A>G|11,BUFFER|p.0?|c.1_1182del1182|6,BUFFER|p.N310D|c.928A>G|3,BUFFER|p.N310fs*35|c.927delC|3,BUFFER|p.N310fs*35|c.927delC|3,BUFFER|p.P309S|c.925C>T|3,BUFFER|p.?|c.920-1G>T|6,BUFFER|p.?|c.920-1G>T|3,BUFFER|p.?|c.920-1G>A|13,BUFFER|p.?|c.920-1G>A|5,BUFFER|p.?|c.920-1G>T|7,BUFFER|p.?|c.920-2A>T|4,BUFFER|p.?|c.920-2A>T|9,BUFFER|p.?|c.920-2A>T|9	.	.	.	.	.	ENSP00000269305	.	.	.	.	.	.	.	.	.	.	rs397516439,TP53_g.13990A>C,TP53_g.13990A>G,TP53_g.13990A>T,COSM45771,COSM33650,COSM131541,COSM131542,COSM121092,COSM3388167,COSM3717624,COSM1649347,COSM1646822	.	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	HIGH	8/10	PRIMARY	.	.	.	.	5	1,0,0,0,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,0,0,0,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000269305,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	.	181	74	SUCCESS
CCDC151	0	.	GRCh37	19	11532471	11532471	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	95	0	ENST00000356392.4:c.1464G>C	p.Leu488=	p.L488=	ENST00000356392	NM_145045.4	488	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS42501.1	1464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCCAGCTC	NONE	.	.	hmmpanther:PTHR21694:SF1,hmmpanther:PTHR21694	.	.	ENSP00000348757	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000356392	Transcript	1	.	ENSG00000198003	28303	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC151_HUMAN	CCDC151	HGNC	K7EPK8_HUMAN,B7ZMB9_HUMAN	.	UPI000040CC83	SNV	CCDC151,synonymous_variant,p.%3D,ENST00000356392,;CCDC151,synonymous_variant,p.%3D,ENST00000545100,;CCDC151,synonymous_variant,p.%3D,ENST00000591179,;CCDC151,synonymous_variant,p.%3D,ENST00000586836,;RGL3,upstream_gene_variant,,ENST00000380456,;RGL3,upstream_gene_variant,,ENST00000567080,;RGL3,upstream_gene_variant,,ENST00000567431,;RGL3,upstream_gene_variant,,ENST00000393423,;RGL3,upstream_gene_variant,,ENST00000563436,;RGL3,upstream_gene_variant,,ENST00000561570,;CCDC151,3_prime_UTR_variant,,ENST00000591345,;RGL3,upstream_gene_variant,,ENST00000563726,;RGL3,upstream_gene_variant,,ENST00000568420,;RGL3,upstream_gene_variant,,ENST00000453604,;RGL3,upstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000562663,;	1552	95	72	SUCCESS
FAM32A	26017	.	GRCh37	19	16296481	16296481	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	40	214	0	ENST00000263384.7:c.121A>G	p.Met41Val	p.M41V	ENST00000263384	NM_014077.2	41	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS12341.1	121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCAATGGGA	NONE	.	.	Pfam_domain:PF08555,hmmpanther:PTHR13282	.	.	ENSP00000263384	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000263384	Transcript	.	.	ENSG00000105058	24563	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.48)	.	FA32A_HUMAN	FAM32A	HGNC	.	.	UPI0000073135	SNV	FAM32A,missense_variant,p.Met37Val,ENST00000587351,;FAM32A,missense_variant,p.Met41Val,ENST00000588367,;FAM32A,missense_variant,p.Met41Val,ENST00000263384,;FAM32A,missense_variant,p.Met21Val,ENST00000589852,;CTD-2562J15.4,downstream_gene_variant,,ENST00000591038,;FAM32A,missense_variant,p.Met41Val,ENST00000585831,;	146	214	147	SUCCESS
DPY19L3	147991	.	GRCh37	19	32968508	32968508	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	33	85	0	ENST00000342179.5:c.1778T>A	p.Leu593Gln	p.L593Q	ENST00000342179	NM_207325.2	593	cTa/cAa	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS12422.1	1778	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTAACCA	NONE	.	.	hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF4,Pfam_domain:PF10034	.	.	ENSP00000344937	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000342179	Transcript	.	.	ENSG00000178904	27120	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	D19L3_HUMAN	DPY19L3	HGNC	K7ELG1_HUMAN	.	UPI00001C10BE	SNV	DPY19L3,missense_variant,p.Leu593Gln,ENST00000342179,;DPY19L3,missense_variant,p.Leu593Gln,ENST00000392250,;DPY19L3,missense_variant,p.Leu593Gln,ENST00000586987,;DPY19L3,3_prime_UTR_variant,,ENST00000588648,;DPY19L3,3_prime_UTR_variant,,ENST00000592832,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000608291,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000592142,;	1993	85	104	SUCCESS
LRFN1	57622	.	GRCh37	19	39805160	39805160	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	97	0	ENST00000248668.4:c.817G>T	p.Glu273Ter	p.E273*	ENST00000248668	NM_020862.1	273	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS46071.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTCTAAGT	NONE	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373	.	.	ENSP00000248668	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000248668	Transcript	.	.	ENSG00000128011	29290	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRFN1_HUMAN	LRFN1	HGNC	.	.	UPI00001A5C55	SNV	LRFN1,stop_gained,p.Glu273Ter,ENST00000248668,;CTC-246B18.8,downstream_gene_variant,,ENST00000601911,;	817	97	47	SUCCESS
CLC	1178	.	GRCh37	19	40225044	40225044	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140514392	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	70	0	ENST00000221804.4:c.182G>A	p.Arg61His	p.R61H	ENST00000221804	NM_001828.5	61	cGt/cAt	0	.	A:0	.	A:0	.	T	R/H	protein_coding	YES	CCDS33025.1	182	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACACGACGA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF15,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899	A:0.003	.	ENSP00000221804	A:0	3/4	.	.	.	.	.	.	.	.	rs140514392	3/4	PASS	ENST00000221804	Transcript	.	A:0.0006	ENSG00000105205	2014	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	A:0	tolerated(0.54)	.	LEG10_HUMAN	CLC	HGNC	.	.	UPI0000161F7F	SNV	CLC,missense_variant,p.Arg61His,ENST00000221804,;	258	70	72	SUCCESS
SPTBN4	57731	.	GRCh37	19	41056177	41056177	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	30	0	ENST00000352632.3:c.4618C>T	p.Gln1540Ter	p.Q1540*	ENST00000352632		1540	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS12559.1	4618	RADIA|MUSE	.	CCATGCAGACA	NONE	.	.	hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150	.	.	ENSP00000263373	.	22/36	.	.	.	.	.	.	.	.	.	22/36	PASS	ENST00000352632	Transcript	.	.	ENSG00000160460	14896	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPTN4_HUMAN	SPTBN4	HGNC	.	.	UPI0000135DBB	SNV	SPTBN4,stop_gained,p.Gln1540Ter,ENST00000338932,;SPTBN4,stop_gained,p.Gln216Ter,ENST00000392023,;SPTBN4,stop_gained,p.Gln1540Ter,ENST00000352632,;SPTBN4,stop_gained,p.Gln1540Ter,ENST00000598249,;SPTBN4,stop_gained,p.Gln1540Ter,ENST00000595535,;SPTBN4,stop_gained,p.Gln283Ter,ENST00000392025,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000596900,;	4704	30	31	SUCCESS
ZNF229	7772	.	GRCh37	19	44934548	44934548	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	64	0	ENST00000588931.1:c.408T>C	p.Asp136=	p.D136=	ENST00000588931	NM_014518.2	136	gaT/gaC	0	.	.	.	.	.	G	D	protein_coding	YES	CCDS42574.1	408	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCATCTTC	NONE	.	.	hmmpanther:PTHR24377	.	.	ENSP00000466519	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,synonymous_variant,p.%3D,ENST00000588931,;ZNF229,synonymous_variant,p.%3D,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	842	64	74	SUCCESS
AKT1S1	84335	.	GRCh37	19	50380084	50380084	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	41	0	ENST00000344175.5:c.-8+410A>G		p.*3*	ENST00000344175	NM_001098633.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59410.1	.	MUTECT|MUSE	.	AGCATTTCCAT	NONE	.	.	.	.	.	ENSP00000375711	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000391835	Transcript	.	.	ENSG00000204673	28426	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AKTS1_HUMAN	AKT1S1	HGNC	M0R2V8_HUMAN,H9KV91_HUMAN	.	UPI00004A2415	SNV	AKT1S1,5_prime_UTR_variant,,ENST00000391835,;AKT1S1,5_prime_UTR_variant,,ENST00000391834,;AKT1S1,intron_variant,,ENST00000391832,;AKT1S1,intron_variant,,ENST00000344175,;AKT1S1,intron_variant,,ENST00000391830,;TBC1D17,upstream_gene_variant,,ENST00000599049,;TBC1D17,upstream_gene_variant,,ENST00000535102,;AKT1S1,upstream_gene_variant,,ENST00000391833,;AKT1S1,upstream_gene_variant,,ENST00000391831,;AKT1S1,upstream_gene_variant,,ENST00000599525,;TBC1D17,upstream_gene_variant,,ENST00000221543,;AKT1S1,intron_variant,,ENST00000482622,;TBC1D17,upstream_gene_variant,,ENST00000598789,;TBC1D17,upstream_gene_variant,,ENST00000596243,;TBC1D17,upstream_gene_variant,,ENST00000594996,;	1202	41	27	SUCCESS
ZNF766	90321	.	GRCh37	19	52794386	52794386	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	114	0	ENST00000439461.1:c.1342T>G	p.Phe448Val	p.F448V	ENST00000439461	NM_001010851.2	448	Ttt/Gtt	0	.	.	.	.	.	G	F/V	protein_coding	YES	CCDS46163.1	1342	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCTTTAGG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF5,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000409652	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000439461	Transcript	.	.	ENSG00000196214	28063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	ZN766_HUMAN	ZNF766	HGNC	M0R1P9_HUMAN,M0R139_HUMAN,M0QXI4_HUMAN	.	UPI0000202AF7	SNV	ZNF766,missense_variant,p.Phe448Val,ENST00000439461,;ZNF766,3_prime_UTR_variant,,ENST00000599581,;ZNF766,intron_variant,,ENST00000359102,;ZNF766,intron_variant,,ENST00000593612,;ZNF766,downstream_gene_variant,,ENST00000593703,;ZNF766,downstream_gene_variant,,ENST00000600821,;ZNF766,downstream_gene_variant,,ENST00000595149,;ZNF766,downstream_gene_variant,,ENST00000595000,;CTD-2525I3.5,intron_variant,,ENST00000594865,;	1385	114	117	SUCCESS
NLRP13	126204	.	GRCh37	19	56424387	56424387	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	26	107	0	ENST00000342929.3:c.796T>G	p.Phe266Val	p.F266V	ENST00000342929	NM_176810.2	266	Ttc/Gtc	0	.	.	.	.	.	C	F/V	protein_coding	YES	CCDS33119.1	796	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGAAAACAT	NONE	.	.	PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,Pfam_domain:PF05729,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000343891	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000342929	Transcript	.	.	ENSG00000173572	22937	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	NAL13_HUMAN	NLRP13	HGNC	.	.	UPI00001AEEC8	SNV	NLRP13,missense_variant,p.Phe266Val,ENST00000588751,;NLRP13,missense_variant,p.Phe266Val,ENST00000342929,;	796	107	95	SUCCESS
ZNF582	147948	.	GRCh37	19	56895920	56895920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	53	0	ENST00000301310.4:c.866G>T	p.Gly289Val	p.G289V	ENST00000301310	NM_144690.1	289	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS33121.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGCCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF115,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000301310	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301310	Transcript	.	.	ENSG00000018869	26421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.804)	.	deleterious(0)	.	ZN582_HUMAN	ZNF582	HGNC	B4DQZ9_HUMAN	.	UPI000006D278	SNV	ZNF582,missense_variant,p.Gly289Val,ENST00000586929,;ZNF582,missense_variant,p.Gly289Val,ENST00000301310,;ZNF582,intron_variant,,ENST00000589143,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF542,downstream_gene_variant,,ENST00000495307,;ZNF542,downstream_gene_variant,,ENST00000490123,;ZNF582,downstream_gene_variant,,ENST00000593145,;ZNF582,downstream_gene_variant,,ENST00000587778,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;	1025	53	71	SUCCESS
ZNF264	9422	.	GRCh37	19	57705355	57705355	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1309835948	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	20	113	0	ENST00000263095.6:c.146T>C	p.Leu49Pro	p.L49P	ENST00000263095	NM_003417.4	49	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS33127.1	146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCTCCTGG	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF96,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000263095	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000263095	Transcript	.	.	ENSG00000083844	13057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	ZN264_HUMAN	ZNF264	HGNC	M0QXF3_HUMAN	.	UPI000013C33B	SNV	ZNF264,missense_variant,p.Leu49Pro,ENST00000597447,;ZNF264,missense_variant,p.Leu49Pro,ENST00000263095,;ZNF264,missense_variant,p.Leu49Pro,ENST00000536056,;ZNF264,missense_variant,p.Leu49Pro,ENST00000599653,;ZNF264,missense_variant,p.Leu49Pro,ENST00000600531,;ZNF264,downstream_gene_variant,,ENST00000594126,;	560	113	91	SUCCESS
AMPD2	271	.	GRCh37	1	110173592	110173592	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	56	284	0	ENST00000256578.3:c.2458T>A	p.Tyr820Asn	p.Y820N	ENST00000256578	NM_004037.7	820	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS805.1	2458	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTATACC	NONE	.	.	hmmpanther:PTHR11359:SF3,hmmpanther:PTHR11359,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	.	.	ENSP00000256578	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000256578	Transcript	.	.	ENSG00000116337	469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	AMPD2_HUMAN	AMPD2	HGNC	E9PIJ1_HUMAN	.	UPI0000125956	SNV	AMPD2,missense_variant,p.Tyr702Asn,ENST00000528454,;AMPD2,missense_variant,p.Tyr745Asn,ENST00000358729,;AMPD2,missense_variant,p.Tyr820Asn,ENST00000256578,;AMPD2,missense_variant,p.Tyr820Asn,ENST00000528667,;AMPD2,missense_variant,p.Tyr739Asn,ENST00000342115,;AMPD2,missense_variant,p.Tyr802Asn,ENST00000369840,;AMPD2,missense_variant,p.Tyr172Asn,ENST00000476688,;AMPD2,missense_variant,p.Tyr701Asn,ENST00000393688,;AMPD2,downstream_gene_variant,,ENST00000527846,;AMPD2,downstream_gene_variant,,ENST00000474459,;AMPD2,downstream_gene_variant,,ENST00000531203,;AMPD2,downstream_gene_variant,,ENST00000531734,;RP5-1160K1.6,upstream_gene_variant,,ENST00000369843,;AMPD2,downstream_gene_variant,,ENST00000459643,;AMPD2,downstream_gene_variant,,ENST00000526301,;AMPD2,non_coding_transcript_exon_variant,,ENST00000479919,;AMPD2,non_coding_transcript_exon_variant,,ENST00000528958,;AMPD2,downstream_gene_variant,,ENST00000529299,;AMPD2,downstream_gene_variant,,ENST00000486282,;AMPD2,downstream_gene_variant,,ENST00000534144,;AMPD2,downstream_gene_variant,,ENST00000532851,;AMPD2,downstream_gene_variant,,ENST00000533132,;AMPD2,downstream_gene_variant,,ENST00000467071,;AMPD2,downstream_gene_variant,,ENST00000525415,;AMPD2,downstream_gene_variant,,ENST00000528270,;AMPD2,downstream_gene_variant,,ENST00000524975,;	2818	284	219	SUCCESS
PGLYRP4	57115	.	GRCh37	1	153317739	153317739	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	33	25	0	ENST00000359650.5:c.259C>A	p.Leu87Met	p.L87M	ENST00000359650	NM_020393.2	87	Ctg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS30871.1	259	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGTCCAG	NONE	.	.	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846	.	.	ENSP00000352672	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000359650	Transcript	.	.	ENSG00000163218	30015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.725)	.	tolerated(0.58)	.	PGRP4_HUMAN	PGLYRP4	HGNC	.	.	UPI000013F78A	SNV	PGLYRP4,missense_variant,p.Leu83Met,ENST00000368739,;PGLYRP4,missense_variant,p.Leu87Met,ENST00000359650,;PGLYRP4,non_coding_transcript_exon_variant,,ENST00000490266,;	324	25	54	SUCCESS
NADK	65220	.	GRCh37	1	1684446	1684446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	40	177	0	ENST00000341426.5:c.1238C>A	p.Pro413His	p.P413H	ENST00000341426	NM_023018.4	413	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS55562.1	1673	RADIA|MUTECT|MUSE	.	TCACGGGGTCC	NONE	.	.	HAMAP:MF_00361,hmmpanther:PTHR20275:SF8,hmmpanther:PTHR20275,Superfamily_domains:SSF111331	.	.	ENSP00000340925	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000344463	Transcript	.	.	ENSG00000008130	29831	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.062)	.	tolerated(0.13)	.	NADK_HUMAN	NADK	HGNC	.	.	UPI000013CBEB	SNV	NADK,missense_variant,p.Pro558His,ENST00000378625,;NADK,missense_variant,p.Pro558His,ENST00000344463,;NADK,missense_variant,p.Pro413His,ENST00000341991,;NADK,missense_variant,p.Pro381His,ENST00000342348,;NADK,missense_variant,p.Pro413His,ENST00000341426,;NADK,downstream_gene_variant,,ENST00000469045,;NADK,downstream_gene_variant,,ENST00000400922,;NADK,downstream_gene_variant,,ENST00000492768,;NADK,3_prime_UTR_variant,,ENST00000498806,;NADK,downstream_gene_variant,,ENST00000460602,;NADK,downstream_gene_variant,,ENST00000477235,;NADK,downstream_gene_variant,,ENST00000480499,;NADK,downstream_gene_variant,,ENST00000497186,;NADK,downstream_gene_variant,,ENST00000492845,;NADK,downstream_gene_variant,,ENST00000497615,;NADK,downstream_gene_variant,,ENST00000489538,;NADK,downstream_gene_variant,,ENST00000497747,;	1895	177	115	SUCCESS
LYST	1130	.	GRCh37	1	235892901	235892901	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs746297204	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	15	49	0	ENST00000389793.2:c.9101T>C	p.Leu3034Ser	p.L3034S	ENST00000389793	NM_000081.3	3034	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS31062.1	9101	RADIA|MUTECT|MUSE	.	CTAGTAACAAT	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,Pfam_domain:PF14844,Gene3D:1t77A01,Superfamily_domains:SSF50729	.	.	ENSP00000374444	.	37/53	.	.	.	.	.	.	.	.	rs746297204	37/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,missense_variant,p.Leu3034Ser,ENST00000389793,;LYST,missense_variant,p.Leu3034Ser,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;LYST,upstream_gene_variant,,ENST00000475277,;	9276	49	87	SUCCESS
FMN2	56776	.	GRCh37	1	240493999	240493999	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs753572260	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	55	69	0	ENST00000319653.9:c.4534G>T	p.Asp1512Tyr	p.D1512Y	ENST00000319653	NM_020066.4	1512	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS31069.2	4534	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGATGGC	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000318884	.	11/18	.	.	.	.	.	.	.	.	rs753572260	11/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Asp108Tyr,ENST00000545751,;FMN2,missense_variant,p.Asp1512Tyr,ENST00000319653,;FMN2,downstream_gene_variant,,ENST00000441342,;FMN2,downstream_gene_variant,,ENST00000463398,;	4764	69	131	SUCCESS
PLCH2	9651	.	GRCh37	1	2430060	2430060	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747707446	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	219	0	ENST00000378486.3:c.2323G>A	p.Asp775Asn	p.D775N	ENST00000378486	NM_014638.2	775	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	.	2242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGCGACTCC	NONE	byFrequency	.	Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR10336:SF21,hmmpanther:PTHR10336,PROSITE_profiles:PS50004	.	.	ENSP00000397289	.	17/22	.	.	.	.	.	.	.	.	rs747707446	17/22	PASS	ENST00000449969	Transcript	.	.	ENSG00000149527	29037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.899)	.	deleterious(0.01)	.	PLCH2_HUMAN	PLCH2	HGNC	.	.	UPI00006C0134	SNV	PLCH2,missense_variant,p.Asp598Asn,ENST00000278878,;PLCH2,missense_variant,p.Asp775Asn,ENST00000419816,;PLCH2,missense_variant,p.Asp775Asn,ENST00000378486,;PLCH2,missense_variant,p.Asp748Asn,ENST00000449969,;PLCH2,missense_variant,p.Asp739Asn,ENST00000378488,;PLCH2,intron_variant,,ENST00000288766,;RP3-395M20.3,upstream_gene_variant,,ENST00000442305,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,non_coding_transcript_exon_variant,,ENST00000473964,;PLCH2,upstream_gene_variant,,ENST00000462379,;	2403	219	119	SUCCESS
KIAA0319L	79932	.	GRCh37	1	35972470	35972470	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	42	129	0	ENST00000325722.3:c.409G>A	p.Ala137Thr	p.A137T	ENST00000325722	NM_024874.4	137	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS390.1	409	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGCAGTTT	BUFFER|p.K133fs*22|c.399delA|3,BUFFER|p.K133fs*22|c.399delA|3	.	.	.	.	.	ENSP00000318406	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000325722	Transcript	.	.	ENSG00000142687	30071	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.88)	.	K319L_HUMAN	KIAA0319L	HGNC	E7EN73_HUMAN,C9JVB2_HUMAN,C9JQ56_HUMAN,C9J519_HUMAN,B1AN15_HUMAN	.	UPI000003F081	SNV	KIAA0319L,missense_variant,p.Ala137Thr,ENST00000469892,;KIAA0319L,missense_variant,p.Ala137Thr,ENST00000440579,;KIAA0319L,missense_variant,p.Ala137Thr,ENST00000325722,;KIAA0319L,missense_variant,p.Ala137Thr,ENST00000494948,;KIAA0319L,missense_variant,p.Ala137Thr,ENST00000426982,;KIAA0319L,upstream_gene_variant,,ENST00000431916,;KIAA0319L,non_coding_transcript_exon_variant,,ENST00000492888,;KIAA0319L,missense_variant,p.Ala137Thr,ENST00000478463,;KIAA0319L,missense_variant,p.Ala137Thr,ENST00000482929,;KIAA0319L,intron_variant,,ENST00000470388,;RP4-728D4.3,upstream_gene_variant,,ENST00000442276,;	644	129	134	SUCCESS
SCP2	6342	.	GRCh37	1	53443897	53443897	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs756891047	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	57	0	ENST00000371514.3:c.683del	p.Ser228Ter	p.S228*	ENST00000371514	NM_002979.4	228	tCa/ta	0	.	.	.	.	.	-	S/X	protein_coding	YES	CCDS572.1	683	INDELOCATOR*|VARSCANI*|PINDEL	.	CCACTTCAGATG	NONE	.	.	hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Gene3D:3.40.47.10,Superfamily_domains:SSF53901	.	.	ENSP00000360569	.	9/16	.	.	.	.	.	.	.	.	rs756891047	9/16	PASS	ENST00000371514	Transcript	.	.	ENSG00000116171	10606	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NLTP_HUMAN	SCP2	HGNC	.	.	UPI0000130258	deletion	SCP2,frameshift_variant,p.Ser174Ter,ENST00000529363,;SCP2,frameshift_variant,p.Ser228Ter,ENST00000371514,;SCP2,frameshift_variant,p.Ser147Ter,ENST00000528311,;SCP2,frameshift_variant,p.Ser184Ter,ENST00000371509,;SCP2,frameshift_variant,p.Ser204Ter,ENST00000407246,;SCP2,frameshift_variant,p.Ser184Ter,ENST00000371513,;SCP2,non_coding_transcript_exon_variant,,ENST00000473584,;SCP2,downstream_gene_variant,,ENST00000528809,;SCP2,frameshift_variant,p.Ser228Ter,ENST00000478631,;	851	57	75	SUCCESS
ZZZ3	26009	.	GRCh37	1	78105246	78105246	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	40	0	ENST00000370801.3:c.-164A>G		p.*55*	ENST00000370801	NM_015534.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS677.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCTCTCAGCT	NONE	.	.	.	.	.	ENSP00000359837	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000370801	Transcript	.	.	ENSG00000036549	24523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZZZ3_HUMAN	ZZZ3	HGNC	C9JUA4_HUMAN,C9J283_HUMAN	.	UPI0000074256	SNV	ZZZ3,5_prime_UTR_variant,,ENST00000370801,;ZZZ3,5_prime_UTR_variant,,ENST00000433749,;ZZZ3,5_prime_UTR_variant,,ENST00000414381,;ZZZ3,5_prime_UTR_variant,,ENST00000370798,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000463166,;ZZZ3,downstream_gene_variant,,ENST00000469944,;	313	40	42	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94655721	94655721	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	22	0	ENST00000260526.6:c.1282-82G>T		p.*428*	ENST00000260526	NM_004815.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS748.1	.	MUTECT|MUSE	.	CTGCACCAATA	NONE	.	.	.	.	.	ENSP00000260526	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODIFIER	12/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,intron_variant,,ENST00000260526,;ARHGAP29,non_coding_transcript_exon_variant,,ENST00000482481,;ARHGAP29,intron_variant,,ENST00000552844,;	.	22	32	SUCCESS
SNX5	27131	.	GRCh37	20	17934754	17934754	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs6045116	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	50	0	ENST00000377759.4:c.275C>G	p.Pro92Arg	p.P92R	ENST00000377759	NM_014426.2	92	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS13130.1	275	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGGTGGA	NONE	byCluster	.	Superfamily_domains:SSF64268,PIRSF_domain:PIRSF036924,Gene3D:3.30.1520.10,Pfam_domain:PF00787,hmmpanther:PTHR10555:SF6,hmmpanther:PTHR10555,PROSITE_profiles:PS50195	.	.	ENSP00000366998	.	5/14	.	.	.	.	.	.	.	.	rs6045116	5/14	PASS	ENST00000377768	Transcript	.	.	ENSG00000089006	14969	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SNX5_HUMAN	SNX5	HGNC	.	.	UPI0000135B43	SNV	SNX5,missense_variant,p.Pro92Arg,ENST00000377759,;SNX5,missense_variant,p.Pro92Arg,ENST00000377768,;SNX5,missense_variant,p.Pro55Arg,ENST00000431277,;SNX5,missense_variant,p.Pro57Arg,ENST00000419004,;SNX5,non_coding_transcript_exon_variant,,ENST00000494401,;SNX5,non_coding_transcript_exon_variant,,ENST00000490175,;SNX5,non_coding_transcript_exon_variant,,ENST00000475716,;SNX5,non_coding_transcript_exon_variant,,ENST00000474883,;SNX5,non_coding_transcript_exon_variant,,ENST00000483485,;SNX5,downstream_gene_variant,,ENST00000469704,;SNX5,upstream_gene_variant,,ENST00000476648,;OVOL2,downstream_gene_variant,,ENST00000486776,;SNX5,upstream_gene_variant,,ENST00000463050,;	588	50	49	SUCCESS
FAM182B	728882	.	GRCh37	20	25755863	25755863	+	synonymous_variant	Silent	SNP	T	T	C	rs757192540	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	108	0	ENST00000376403.1:c.93A>G	p.Gly31=	p.G31=	ENST00000376403		31	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	.	93	RADIA|MUTECT|VARSCANS	.	GGGCATCCGCA	NONE	byFrequency	.	.	.	.	ENSP00000365585	.	3/3	.	.	.	.	.	.	.	.	rs757192540	3/3	PASS	ENST00000376403	Transcript	.	.	ENSG00000175170	34503	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F182B_HUMAN	FAM182B	HGNC	.	.	UPI000047001E	SNV	FAM182B,synonymous_variant,p.%3D,ENST00000584071,;FAM182B,synonymous_variant,p.%3D,ENST00000376404,;FAM182B,synonymous_variant,p.%3D,ENST00000376403,;FAM182B,non_coding_transcript_exon_variant,,ENST00000485279,;FAM182B,non_coding_transcript_exon_variant,,ENST00000582267,;FAM182B,non_coding_transcript_exon_variant,,ENST00000478164,;FAM182B,non_coding_transcript_exon_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000584356,;	472	108	109	SUCCESS
FAM182B	728882	.	GRCh37	20	25755888	25755888	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779617302	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	96	0	ENST00000376403.1:c.68G>C	p.Cys23Ser	p.C23S	ENST00000376403		23	tGc/tCc	0	.	.	.	.	.	G	C/S	protein_coding	YES	.	68	RADIA|MUTECT	.	AAGTGCAGATC	NONE	byFrequency	.	.	.	.	ENSP00000365585	.	3/3	.	.	.	.	.	.	.	.	rs779617302	3/3	PASS	ENST00000376403	Transcript	.	.	ENSG00000175170	34503	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.3)	.	tolerated_low_confidence(0.1)	.	F182B_HUMAN	FAM182B	HGNC	.	.	UPI000047001E	SNV	FAM182B,missense_variant,p.Cys31Ser,ENST00000584071,;FAM182B,missense_variant,p.Cys20Ser,ENST00000376404,;FAM182B,missense_variant,p.Cys23Ser,ENST00000376403,;FAM182B,non_coding_transcript_exon_variant,,ENST00000485279,;FAM182B,non_coding_transcript_exon_variant,,ENST00000582267,;FAM182B,non_coding_transcript_exon_variant,,ENST00000478164,;FAM182B,non_coding_transcript_exon_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000584356,;	447	96	97	SUCCESS
CDH26	60437	.	GRCh37	20	58564168	58564168	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	84	0	ENST00000348616.4:c.1233T>C	p.Pro411=	p.P411=	ENST00000348616	NM_177980.2	411	ccT/ccC	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS13485.1	1233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTGGGAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	.	.	ENSP00000339390	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000348616	Transcript	.	.	ENSG00000124215	15902	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD26_HUMAN	CDH26	HGNC	.	.	UPI000013CB55	SNV	CDH26,synonymous_variant,p.%3D,ENST00000370991,;CDH26,synonymous_variant,p.%3D,ENST00000244047,;CDH26,synonymous_variant,p.%3D,ENST00000348616,;CDH26,non_coding_transcript_exon_variant,,ENST00000477058,;	1533	84	94	SUCCESS
TEKT4P2	100132288	.	GRCh37	21	9907263	9907263	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	rs571204360	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	12	0	ENST00000416067.1:n.1530T>C		p.*510*	ENST00000416067				0	.	G:0	.	G:0.0058	.	G	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CAGCCAGCTGC	NONE	byFrequency|by1000G	.	.	G:0	.	.	G:0	4/4	.	.	.	.	.	.	.	.	rs571204360	4/4	PASS	ENST00000416067	Transcript	.	G:0.0008	ENSG00000188681	40046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	.	TEKT4P2	HGNC	.	.	.	SNV	TEKT4P2,non_coding_transcript_exon_variant,,ENST00000416067,;TEKT4P2,non_coding_transcript_exon_variant,,ENST00000400754,;TEKT4P2,non_coding_transcript_exon_variant,,ENST00000559466,;	1530	12	10	SUCCESS
KLF11	8462	.	GRCh37	2	10188153	10188153	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs370039403	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	16	98	0	ENST00000305883.1:c.689C>G	p.Ser230Cys	p.S230C	ENST00000305883	NM_003597.4	230	tCc/tGc	0	T:0	.	.	.	.	G	S/C	protein_coding	YES	CCDS1668.1	689	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTCCTGTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23223:SF8,hmmpanther:PTHR23223	.	T:0.0001	ENSP00000307023	.	3/4	.	.	.	.	.	.	.	.	rs370039403	3/4	PASS	ENST00000305883	Transcript	.	.	ENSG00000172059	11811	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.872)	.	tolerated(0.11)	.	KLF11_HUMAN	KLF11	HGNC	Q53QU8_HUMAN,E7EX78_HUMAN,C9JM94_HUMAN,B5MCC4_HUMAN	.	UPI000012DEDA	SNV	KLF11,missense_variant,p.Ser213Cys,ENST00000540845,;KLF11,missense_variant,p.Ser213Cys,ENST00000535335,;KLF11,missense_variant,p.Ser230Cys,ENST00000305883,;KLF11,downstream_gene_variant,,ENST00000440320,;KLF11,downstream_gene_variant,,ENST00000401510,;KLF11,downstream_gene_variant,,ENST00000448523,;	851	98	61	SUCCESS
GALNT5	11227	.	GRCh37	2	158140942	158140942	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	24	43	0	ENST00000259056.4:c.1603G>C	p.Asp535His	p.D535H	ENST00000259056	NM_014568.1	535	Gat/Cat	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS2203.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTAGATGAC	NONE	.	.	hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	.	.	ENSP00000259056	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000259056	Transcript	.	.	ENSG00000136542	4127	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	GALT5_HUMAN	GALNT5	HGNC	Q68VJ5_HUMAN	.	UPI000019AD19	SNV	GALNT5,missense_variant,p.Asp535His,ENST00000259056,;	2088	43	82	SUCCESS
SLC4A10	57282	.	GRCh37	2	162757594	162757594	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	56	123	0	ENST00000446997.1:c.1442+73T>C		p.*481*	ENST00000446997	NM_001178015.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54411.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTATTTTGG	NONE	.	.	.	.	.	ENSP00000393066	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODIFIER	12/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,intron_variant,,ENST00000446997,;SLC4A10,intron_variant,,ENST00000421911,;SLC4A10,intron_variant,,ENST00000272716,;SLC4A10,intron_variant,,ENST00000535165,;SLC4A10,intron_variant,,ENST00000415876,;SLC4A10,intron_variant,,ENST00000375514,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,intron_variant,,ENST00000446228,;	.	123	151	SUCCESS
FRZB	2487	.	GRCh37	2	183703315	183703315	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	68	0	ENST00000295113.4:c.619A>T	p.Lys207Ter	p.K207*	ENST00000295113	NM_001463.3	207	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS2286.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTTATCT	NONE	.	.	PROSITE_profiles:PS50189,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF76,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242	.	.	ENSP00000295113	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000295113	Transcript	.	.	ENSG00000162998	3959	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFRP3_HUMAN	FRZB	HGNC	D9ZGF6_HUMAN,Q53QT6_HUMAN,Q53QN4_HUMAN	.	UPI0000051054	SNV	FRZB,stop_gained,p.Lys207Ter,ENST00000295113,;	1229	68	99	SUCCESS
STK17B	9262	.	GRCh37	2	197010770	197010770	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	52	0	ENST00000263955.4:c.345T>G	p.Gly115=	p.G115=	ENST00000263955	NM_004226.3	115	ggT/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS2315.1	345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCACCTGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF5,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263955	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000263955	Transcript	.	.	ENSG00000081320	11396	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST17B_HUMAN	STK17B	HGNC	U3KQF8_HUMAN,Q53QE7_HUMAN,C9JZJ1_HUMAN	.	UPI0000035B5D	SNV	STK17B,synonymous_variant,p.%3D,ENST00000263955,;STK17B,synonymous_variant,p.%3D,ENST00000409228,;	632	52	84	SUCCESS
EPHA4	2043	.	GRCh37	2	222290755	222290755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	21	82	0	ENST00000281821.2:c.2954C>A	p.Pro985His	p.P985H	ENST00000281821	NM_004438.3	985	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS2447.1	2954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACGGGAACC	NONE	.	.	hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416	.	.	ENSP00000281821	.	17/18	.	.	.	.	.	.	.	.	.	17/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.19)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Pro985His,ENST00000281821,;EPHA4,missense_variant,p.Pro934His,ENST00000392071,;EPHA4,missense_variant,p.Pro985His,ENST00000409938,;EPHA4,3_prime_UTR_variant,,ENST00000409854,;EPHA4,upstream_gene_variant,,ENST00000469354,;EPHA4,upstream_gene_variant,,ENST00000472696,;EPHA4,3_prime_UTR_variant,,ENST00000424339,;	2996	82	84	SUCCESS
ABCG5	64240	.	GRCh37	2	44041621	44041621	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	49	220	0	ENST00000260645.1:c.1757C>G	p.Thr586Ser	p.T586S	ENST00000260645	NM_022436.2	586	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS1814.1	1757	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGTGAAA	NONE	.	.	hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF193	.	.	ENSP00000260645	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000260645	Transcript	.	.	ENSG00000138075	13886	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	tolerated(0.12)	.	ABCG5_HUMAN	ABCG5	HGNC	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN	.	UPI0000046560	SNV	ABCG5,missense_variant,p.Thr415Ser,ENST00000405322,;ABCG5,missense_variant,p.Thr191Ser,ENST00000543989,;ABCG5,missense_variant,p.Thr586Ser,ENST00000260645,;DYNC2LI1,downstream_gene_variant,,ENST00000443170,;DYNC2LI1,downstream_gene_variant,,ENST00000260605,;DYNC2LI1,downstream_gene_variant,,ENST00000605786,;ABCG5,3_prime_UTR_variant,,ENST00000486512,;ABCG5,3_prime_UTR_variant,,ENST00000409962,;	1897	220	189	SUCCESS
IGKV2-24	28923	.	GRCh37	2	89475847	89475847	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1269755708	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	98	245	0	ENST00000484817.1:c.325G>A	p.Gly109Arg	p.G109R	ENST00000484817		109	Ggg/Agg	0	.	.	.	.	.	T	G/R	IG_V_gene	YES	.	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCCGACAT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000419300	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000484817	Transcript	.	.	ENSG00000241294	5781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.287)	.	deleterious(0.01)	.	.	IGKV2-24	HGNC	.	.	UPI0000115DCF	SNV	IGKV2-24,missense_variant,p.Gly109Arg,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,;	355	245	309	SUCCESS
FAM86HP	729375	.	GRCh37	3	129824431	129824431	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1410948672	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	98	0	ENST00000513466.1:n.282C>T		p.*94*	ENST00000513466				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGCCTCG	NONE	.	.	.	.	.	.	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000513466	Transcript	.	.	ENSG00000253540	42359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FAM86HP	HGNC	.	.	.	SNV	FAM86HP,non_coding_transcript_exon_variant,,ENST00000500074,;FAM86HP,intron_variant,,ENST00000515245,;ALG1L2,intron_variant,,ENST00000511726,;FAM86HP,upstream_gene_variant,,ENST00000511564,;FAM86HP,upstream_gene_variant,,ENST00000506448,;FAM86HP,non_coding_transcript_exon_variant,,ENST00000513466,;	282	98	86	SUCCESS
C3orf20	84077	.	GRCh37	3	14755616	14755616	+	synonymous_variant	Silent	SNP	C	C	T	rs766033368	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	40	0	ENST00000253697.3:c.1263C>T	p.Ala421=	p.A421=	ENST00000253697	NM_032137.4	421	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33706.1	1263	RADIA|SOMATICSNIPER|VARSCANS	.	CTGGCCCTATT	NONE	.	.	Pfam_domain:PF14977,hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	.	.	ENSP00000253697	.	8/17	.	.	.	.	.	.	.	.	rs766033368	8/17	PASS	ENST00000253697	Transcript	.	.	ENSG00000131379	25320	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC020_HUMAN	C3orf20	HGNC	.	.	UPI000013CDE9	SNV	C3orf20,synonymous_variant,p.%3D,ENST00000435614,;C3orf20,synonymous_variant,p.%3D,ENST00000412910,;C3orf20,synonymous_variant,p.%3D,ENST00000253697,;C3orf20,non_coding_transcript_exon_variant,,ENST00000495387,;	1715	40	37	SUCCESS
PHC3	80012	.	GRCh37	3	169840463	169840463	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	24	89	0	ENST00000494943.1:c.1822A>C	p.Arg608=	p.R608=	ENST00000494943		608	Aga/Cga	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS46952.1	1858	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTATCCA	NONE	.	.	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF20	.	.	ENSP00000420294	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000495893	Transcript	.	.	ENSG00000173889	15682	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHC3_HUMAN	PHC3	HGNC	C9JYH7_HUMAN	.	UPI00004DF1A6	SNV	PHC3,synonymous_variant,p.%3D,ENST00000495893,;PHC3,synonymous_variant,p.%3D,ENST00000467570,;PHC3,synonymous_variant,p.%3D,ENST00000494943,;PHC3,synonymous_variant,p.%3D,ENST00000486042,;	1890	89	125	SUCCESS
MAGEF1	64110	.	GRCh37	3	184429781	184429781	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	19	78	0	ENST00000317897.3:c.-172C>T		p.*58*	ENST00000317897	NM_022149.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3269.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGCCGCA	NONE	.	.	.	.	.	ENSP00000315064	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317897	Transcript	.	.	ENSG00000177383	29639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGF1_HUMAN	MAGEF1	HGNC	.	.	UPI0000140198	SNV	MAGEF1,5_prime_UTR_variant,,ENST00000317897,;	56	78	97	SUCCESS
UBP1	7342	.	GRCh37	3	33481287	33481287	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	63	175	0	ENST00000283628.5:c.54C>G	p.Asp18Glu	p.D18E	ENST00000283628		18	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS2659.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAAGTCGTG	NONE	.	.	hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF13	.	.	ENSP00000283629	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000283629	Transcript	.	.	ENSG00000153560	12507	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	deleterious(0.03)	.	UBIP1_HUMAN	UBP1	HGNC	C9JWL3_HUMAN	.	UPI00000701D7	SNV	UBP1,missense_variant,p.Asp18Glu,ENST00000456378,;UBP1,missense_variant,p.Asp18Glu,ENST00000283628,;UBP1,missense_variant,p.Asp18Glu,ENST00000283629,;UBP1,missense_variant,p.Asp18Glu,ENST00000447368,;UBP1,intron_variant,,ENST00000496310,;	584	175	192	SUCCESS
NBEAL2	23218	.	GRCh37	3	47049823	47049823	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	105	0	ENST00000450053.3:c.7770A>G	p.Ala2590=	p.A2590=	ENST00000450053	NM_015175.2	2590	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS46817.1	7770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCACTACG	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000415034	.	51/54	.	.	.	.	.	.	.	.	.	51/54	PASS	ENST00000450053	Transcript	.	.	ENSG00000160796	31928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEL2_HUMAN	NBEAL2	HGNC	B4DVX0_HUMAN,B4DDY6_HUMAN	.	UPI000022C020	SNV	NBEAL2,synonymous_variant,p.%3D,ENST00000450053,;NBEAL2,synonymous_variant,p.%3D,ENST00000292309,;NBEAL2,synonymous_variant,p.%3D,ENST00000416683,;NBEAL2,synonymous_variant,p.%3D,ENST00000383740,;NBEAL2,synonymous_variant,p.%3D,ENST00000443829,;NBEAL2,downstream_gene_variant,,ENST00000423436,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000469349,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000476095,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000477412,;NBEAL2,downstream_gene_variant,,ENST00000486870,;NBEAL2,downstream_gene_variant,,ENST00000441027,;NBEAL2,downstream_gene_variant,,ENST00000461036,;NRADDP,upstream_gene_variant,,ENST00000437305,;	7949	105	59	SUCCESS
COL7A1	1294	.	GRCh37	3	48626421	48626421	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs146407483	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	211	65	434	0	ENST00000328333.8:c.2322G>T	p.Glu774Asp	p.E774D	ENST00000328333	NM_000094.3	774	gaG/gaT	0	T:0	.	.	.	.	A	E/D	protein_coding	YES	CCDS2773.1	2322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGCTCAGG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24023,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	T:0.0001	ENSP00000332371	.	18/118	.	.	.	.	.	.	.	.	rs146407483	18/118	PASS	ENST00000328333	Transcript	.	.	ENSG00000114270	2214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO7A1_HUMAN	COL7A1	HGNC	.	.	UPI0000126D20	SNV	COL7A1,missense_variant,p.Glu774Asp,ENST00000328333,;COL7A1,missense_variant,p.Glu774Asp,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000487017,;	2430	434	276	SUCCESS
CISH	1154	.	GRCh37	3	50645277	50645277	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	77	0	ENST00000348721.3:c.538C>T	p.Pro180Ser	p.P180S	ENST00000348721	NM_145071.2	180	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS46834.1	589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGAGCAG	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS50001,hmmpanther:PTHR10385:SF7,hmmpanther:PTHR10385	.	.	ENSP00000409346	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000443053	Transcript	.	.	ENSG00000114737	1984	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.14)	.	CISH_HUMAN	CISH	HGNC	.	.	UPI000049DFA1	SNV	CISH,missense_variant,p.Pro180Ser,ENST00000348721,;CISH,missense_variant,p.Pro197Ser,ENST00000443053,;MAPKAPK3,upstream_gene_variant,,ENST00000446044,;MAPKAPK3,upstream_gene_variant,,ENST00000486712,;MAPKAPK3,upstream_gene_variant,,ENST00000497283,;CISH,non_coding_transcript_exon_variant,,ENST00000491847,;	817	77	73	SUCCESS
FAM3D	131177	.	GRCh37	3	58631321	58631321	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs17059569	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	36	130	1	ENST00000358781.2:c.178C>A	p.Pro60Thr	p.P60T	ENST00000358781	NM_138805.2	60	Ccc/Acc	0	A:0.0002	A:0	.	A:0	.	T	P/T	protein_coding	YES	CCDS2893.1	178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGGCTTGA	NONE	byFrequency|byCluster|byHapMap|by1000G	.	hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF8	A:0.0278	A:0	ENSP00000351632	A:0	5/10	.	.	.	.	.	.	.	.	rs17059569	5/10	PASS	ENST00000358781	Transcript	.	A:0.0058	ENSG00000198643	18665	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	A:0.001	tolerated(0.08)	.	FAM3D_HUMAN	FAM3D	HGNC	C9IZW7_HUMAN	.	UPI00000015C6	SNV	FAM3D,missense_variant,p.Pro23Thr,ENST00000489857,;FAM3D,missense_variant,p.Pro60Thr,ENST00000498347,;FAM3D,missense_variant,p.Pro60Thr,ENST00000358781,;FAM3D,missense_variant,p.Pro59Thr,ENST00000483787,;FAM3D,3_prime_UTR_variant,,ENST00000482623,;	489	131	111	SUCCESS
EPHA3	2042	.	GRCh37	3	89390994	89390994	+	synonymous_variant	Silent	SNP	C	C	A	rs779599137	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	51	121	0	ENST00000336596.2:c.1060C>A	p.Arg354=	p.R354=	ENST00000336596	NM_005233.5	354	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2922.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCGGAAA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	.	.	ENSP00000337451	.	5/17	.	.	.	.	.	.	.	.	rs779599137	5/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,synonymous_variant,p.%3D,ENST00000494014,;EPHA3,synonymous_variant,p.%3D,ENST00000452448,;EPHA3,synonymous_variant,p.%3D,ENST00000336596,;	1285	121	167	SUCCESS
RPS3A	6189	.	GRCh37	4	152021639	152021639	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	37	0	ENST00000274065.4:c.65T>C	p.Val22Ala	p.V22A	ENST00000274065	NM_001006.4	22	gTt/gCt	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS3775.1	65	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGTTGATC	NONE	.	.	HAMAP:MF_03122,hmmpanther:PTHR11830,Pfam_domain:PF01015	.	.	ENSP00000346050	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000274065	Transcript	.	.	ENSG00000145425	10421	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	.	tolerated(0.1)	.	RS3A_HUMAN	RPS3A	HGNC	D6RGE0_HUMAN,D6RED7_HUMAN,D6RB09_HUMAN,D6RAT0_HUMAN,D6RAS7_HUMAN,D6R9B6_HUMAN	.	UPI000013D9EC	SNV	RPS3A,missense_variant,p.Val9Ala,ENST00000322686,;RPS3A,missense_variant,p.Val2Ala,ENST00000510993,;RPS3A,missense_variant,p.Val17Ala,ENST00000512797,;RPS3A,missense_variant,p.Val22Ala,ENST00000274065,;RPS3A,missense_variant,p.Val22Ala,ENST00000512690,;RPS3A,missense_variant,p.Val16Ala,ENST00000515792,;RPS3A,splice_region_variant,,ENST00000503002,;RPS3A,splice_region_variant,,ENST00000505243,;RPS3A,splice_region_variant,,ENST00000508783,;RPS3A,splice_region_variant,,ENST00000514682,;RPS3A,splice_region_variant,,ENST00000507327,;RPS3A,5_prime_UTR_variant,,ENST00000506126,;RPS3A,intron_variant,,ENST00000509736,;SNORD73A,upstream_gene_variant,,ENST00000386062,;SNORD73,upstream_gene_variant,,ENST00000364394,;SH3D19,downstream_gene_variant,,ENST00000604922,;RPS3A,missense_variant,p.Val22Ala,ENST00000515818,;RPS3A,splice_region_variant,,ENST00000507485,;	145	37	40	SUCCESS
FGA	2243	.	GRCh37	4	155507395	155507395	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	66	0	ENST00000302053.3:c.1186G>A	p.Asp396Asn	p.D396N	ENST00000302053	NM_000508.3	396	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS3787.1	1186	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATCTGGCC	NONE	.	.	hmmpanther:PTHR19143:SF172,hmmpanther:PTHR19143	.	.	ENSP00000306361	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	deleterious_low_confidence(0.02)	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,missense_variant,p.Asp396Asn,ENST00000302053,;FGA,missense_variant,p.Asp396Asn,ENST00000403106,;	1265	66	70	SUCCESS
RAPGEF2	9693	.	GRCh37	4	160259466	160259467	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	ATTG	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	104	37	104	0	ENST00000264431.4:c.1657_1660dup	p.Gly554AspfsTer9	p.G554Dfs*9	ENST00000264431	NM_014247.2	552	-/ATTG	0	.	.	.	.	.	ATTG	-/IX	protein_coding	YES	CCDS43277.1	1656-1657	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTGATATTGG	NONE	.	.	hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202	.	.	ENSP00000264431	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000264431	Transcript	.	.	ENSG00000109756	16854	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RPGF2_HUMAN	RAPGEF2	HGNC	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN	.	UPI0000033783	insertion	RAPGEF2,frameshift_variant,p.Gly554AspfsTer9,ENST00000264431,;RAPGEF2,upstream_gene_variant,,ENST00000502485,;	2075-2076	104	141	SUCCESS
SLIT2	9353	.	GRCh37	4	20598095	20598095	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	89	0	ENST00000504154.1:c.3378T>C	p.Asp1126=	p.D1126=	ENST00000504154	NM_004787.1	1126	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS3426.1	3378	MUTECT|MUSE|VARSCANS	.	TGTGATAATTT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00274,SMART_domains:SM00181	.	.	ENSP00000422591	.	32/37	.	.	.	.	.	.	.	.	.	32/37	PASS	ENST00000504154	Transcript	.	.	ENSG00000145147	11086	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIT2_HUMAN	SLIT2	HGNC	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN	.	UPI00000747E4	SNV	SLIT2,synonymous_variant,p.%3D,ENST00000273739,;SLIT2,synonymous_variant,p.%3D,ENST00000504154,;SLIT2,synonymous_variant,p.%3D,ENST00000503823,;SLIT2,synonymous_variant,p.%3D,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000512993,;	3630	89	89	SUCCESS
PTPN13	5783	.	GRCh37	4	87692453	87692453	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	71	230	0	ENST00000411767.2:c.4933T>C	p.Ser1645Pro	p.S1645P	ENST00000411767		1645	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS47093.1	4948	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGTCCCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,PIRSF_domain:PIRSF000933	.	.	ENSP00000394794	.	31/48	.	.	.	.	.	.	.	.	.	31/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated(0.05)	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,missense_variant,p.Ser1645Pro,ENST00000411767,;PTPN13,missense_variant,p.Ser1650Pro,ENST00000436978,;PTPN13,missense_variant,p.Ser1454Pro,ENST00000316707,;PTPN13,missense_variant,p.Ser1650Pro,ENST00000511467,;PTPN13,missense_variant,p.Ser1626Pro,ENST00000427191,;PTPN13,downstream_gene_variant,,ENST00000511105,;	5428	230	249	SUCCESS
TERT	7015	.	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs878855297	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	78	0	ENST00000310581.5:c.-57A>C		p.*19*	ENST00000310581	NM_198253.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3861.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGAAAC	NONE	.	.	.	.	.	ENSP00000309572	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,5_prime_UTR_variant,,ENST00000296820,;TERT,5_prime_UTR_variant,,ENST00000310581,;TERT,upstream_gene_variant,,ENST00000508104,;TERT,upstream_gene_variant,,ENST00000334602,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,upstream_gene_variant,,ENST00000460137,;	2	78	57	SUCCESS
SOWAHA	134548	.	GRCh37	5	132149934	132149934	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	43	0	ENST00000378693.2:c.621A>T	p.Ala207=	p.A207=	ENST00000378693	NM_175873.4	207	gcA/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43361.1	621	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCAGCGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14491:SF2,hmmpanther:PTHR14491	.	.	ENSP00000367965	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378693	Transcript	.	.	ENSG00000198944	27033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWAHA_HUMAN	SOWAHA	HGNC	.	.	UPI0000413F35	SNV	SOWAHA,synonymous_variant,p.%3D,ENST00000378693,;AC004775.5,downstream_gene_variant,,ENST00000607389,;	902	43	29	SUCCESS
UBLCP1	134510	.	GRCh37	5	158697408	158697408	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	37	77	0	ENST00000296786.6:c.287T>G	p.Val96Gly	p.V96G	ENST00000296786	NM_145049.3	96	gTt/gGt	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS4345.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGTTAATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32054:SF0,hmmpanther:PTHR32054	.	.	ENSP00000296786	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000296786	Transcript	.	.	ENSG00000164332	28110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	deleterious(0)	.	UBCP1_HUMAN	UBLCP1	HGNC	.	.	UPI0000071EAA	SNV	UBLCP1,missense_variant,p.Val96Gly,ENST00000296786,;UBLCP1,upstream_gene_variant,,ENST00000519276,;UBLCP1,upstream_gene_variant,,ENST00000521738,;	613	77	85	SUCCESS
IRX4	50805	.	GRCh37	5	1878257	1878257	+	synonymous_variant	Silent	SNP	G	G	A	rs1031835435	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	14	67	0	ENST00000231357.2:c.1386C>T	p.Gly462=	p.G462=	ENST00000231357	NM_016358.2	462	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS3867.1	1386	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCGCCCTT	NONE	.	.	hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,synonymous_variant,p.%3D,ENST00000231357,;IRX4,synonymous_variant,p.%3D,ENST00000513692,;IRX4,synonymous_variant,p.%3D,ENST00000505790,;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	1843	67	53	SUCCESS
C5orf22	55322	.	GRCh37	5	31538643	31538643	+	synonymous_variant	Silent	SNP	A	A	G	rs1291974196	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	128	84	191	0	ENST00000325366.9:c.654A>G	p.Pro218=	p.P218=	ENST00000325366	NM_018356.2	218	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS3895.1	654	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCATCATG	NONE	.	.	hmmpanther:PTHR13225:SF2,hmmpanther:PTHR13225,Pfam_domain:PF12640	.	.	ENSP00000326879	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000325366	Transcript	.	.	ENSG00000082213	25639	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE022_HUMAN	C5orf22	HGNC	.	.	UPI000006FDD5	SNV	C5orf22,synonymous_variant,p.%3D,ENST00000325366,;C5orf22,5_prime_UTR_variant,,ENST00000355907,;C5orf22,downstream_gene_variant,,ENST00000507818,;C5orf22,non_coding_transcript_exon_variant,,ENST00000517780,;C5orf22,3_prime_UTR_variant,,ENST00000513967,;C5orf22,3_prime_UTR_variant,,ENST00000511208,;C5orf22,3_prime_UTR_variant,,ENST00000504464,;C5orf22,3_prime_UTR_variant,,ENST00000510659,;C5orf22,non_coding_transcript_exon_variant,,ENST00000510530,;C5orf22,downstream_gene_variant,,ENST00000515409,;	781	191	213	SUCCESS
NNT	23530	.	GRCh37	5	43644303	43644303	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	65	172	0	ENST00000264663.5:c.974C>T	p.Ala325Val	p.A325V	ENST00000264663	NM_012343.3	325	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3949.1	974	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGCTCCAG	NONE	.	.	hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,Pfam_domain:PF01262,TIGRFAM_domain:TIGR00561,Gene3D:3.40.50.1770,SMART_domains:SM01002,Superfamily_domains:SSF51735	.	.	ENSP00000264663	.	8/22	.	.	.	.	.	.	.	.	.	8/22	PASS	ENST00000264663	Transcript	1	.	ENSG00000112992	7863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NNTM_HUMAN	NNT	HGNC	E9PCX7_HUMAN,D6RHU2_HUMAN,D6RCR6_HUMAN,D6RAI5_HUMAN	.	UPI000013D54F	SNV	NNT,missense_variant,p.Ala194Val,ENST00000512996,;NNT,missense_variant,p.Ala325Val,ENST00000344920,;NNT,missense_variant,p.Ala325Val,ENST00000264663,;NNT,upstream_gene_variant,,ENST00000503651,;NNT,upstream_gene_variant,,ENST00000506893,;	1195	172	199	SUCCESS
C6orf15	29113	.	GRCh37	6	31079972	31079972	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	47	148	1	ENST00000259870.3:c.164C>A	p.Pro55His	p.P55H	ENST00000259870	NM_014070.2	55	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS4693.1	164	RADIA|MUTECT|MUSE	.	TAGAGGGGCCA	NONE	.	.	hmmpanther:PTHR15817,hmmpanther:PTHR15817:SF2	.	.	ENSP00000259870	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259870	Transcript	.	.	ENSG00000204542	13927	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.979)	.	tolerated(0.63)	.	CF015_HUMAN	C6orf15	HGNC	M1T2K5_HUMAN	.	UPI000000D748	SNV	C6orf15,missense_variant,p.Pro55His,ENST00000259870,;CDSN,downstream_gene_variant,,ENST00000376288,;PSORS1C1,upstream_gene_variant,,ENST00000259881,;PSORS1C1,upstream_gene_variant,,ENST00000467107,;PSORS1C1,upstream_gene_variant,,ENST00000479581,;PSORS1C1,upstream_gene_variant,,ENST00000493289,;PSORS1C1,upstream_gene_variant,,ENST00000548049,;PSORS1C1,upstream_gene_variant,,ENST00000552747,;PSORS1C1,upstream_gene_variant,,ENST00000550838,;	168	149	147	SUCCESS
HLA-DMA	3108	.	GRCh37	6	32917403	32917403	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1477449986	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	40	126	0	ENST00000374843.4:c.637G>A	p.Ala213Thr	p.A213T	ENST00000374843	NM_006120.3	213	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4761.1	637	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGCTGTGT	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR19944:SF13,hmmpanther:PTHR19944,PROSITE_profiles:PS50835	.	.	ENSP00000363976	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000374843	Transcript	.	.	ENSG00000204257	4934	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.42)	.	DMA_HUMAN	HLA-DMA	HGNC	Q6ICR9_HUMAN,Q31604_HUMAN,F6S093_HUMAN	.	UPI000006F879	SNV	HLA-DMA,missense_variant,p.Ala118Thr,ENST00000395305,;HLA-DMA,missense_variant,p.Ala179Thr,ENST00000395303,;HLA-DMA,missense_variant,p.Ala243Thr,ENST00000456800,;HLA-DMA,missense_variant,p.Ala213Thr,ENST00000374843,;XXbac-BPG181M17.5,intron_variant,,ENST00000429234,;HLA-DMA,downstream_gene_variant,,ENST00000422832,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000464392,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000480785,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000477541,;HLA-DMA,downstream_gene_variant,,ENST00000475627,;	723	126	200	SUCCESS
COL11A2	1302	.	GRCh37	6	33136316	33136316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	19	97	0	ENST00000374708.4:c.3682C>A	p.Pro1228Thr	p.P1228T	ENST00000374708	NM_080681.2	1228	Cca/Aca	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS43452.1	3682	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGGGGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509	.	.	ENSP00000363840	.	52/64	.	.	.	.	.	.	.	.	.	52/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.Pro1254Thr,ENST00000395197,;COL11A2,missense_variant,p.Pro1267Thr,ENST00000374713,;COL11A2,missense_variant,p.Pro1207Thr,ENST00000361917,;COL11A2,missense_variant,p.Pro1293Thr,ENST00000357486,;COL11A2,missense_variant,p.Pro1233Thr,ENST00000374712,;COL11A2,missense_variant,p.Pro1228Thr,ENST00000374708,;COL11A2,missense_variant,p.Pro1314Thr,ENST00000341947,;COL11A2,missense_variant,p.Pro1288Thr,ENST00000374714,;COL11A2,intron_variant,,ENST00000477772,;	3941	97	119	SUCCESS
KIAA1586	57691	.	GRCh37	6	56917588	56917588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	49	153	0	ENST00000370733.4:c.291C>A	p.His97Gln	p.H97Q	ENST00000370733	NM_020931.2	97	caC/caA	0	.	.	.	.	.	A	H/Q	protein_coding	YES	CCDS34480.1	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCACTGCAG	NONE	.	.	.	.	.	ENSP00000359768	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370733	Transcript	.	.	ENSG00000168116	21360	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.075)	.	deleterious_low_confidence(0.01)	.	K1586_HUMAN	KIAA1586	HGNC	.	.	UPI0000074573	SNV	KIAA1586,missense_variant,p.His97Gln,ENST00000370733,;KIAA1586,missense_variant,p.His70Gln,ENST00000545356,;KIAA1586,non_coding_transcript_exon_variant,,ENST00000488682,;	498	153	249	SUCCESS
FBXO24	26261	.	GRCh37	7	100184126	100184126	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs368840090	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	50	0	ENST00000241071.6:c.-123C>T		p.*41*	ENST00000241071	NM_033506.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5699.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCTCGTCCC	NONE	.	3126	.	.	.	ENSP00000416558	.	.	.	.	.	.	.	.	.	.	rs368840090	.	PASS	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,5_prime_UTR_variant,,ENST00000360609,;FBXO24,5_prime_UTR_variant,,ENST00000241071,;FBXO24,intron_variant,,ENST00000461079,;LRCH4,upstream_gene_variant,,ENST00000310300,;FBXO24,upstream_gene_variant,,ENST00000465843,;FBXO24,upstream_gene_variant,,ENST00000427939,;FBXO24,upstream_gene_variant,,ENST00000466053,;LRCH4,upstream_gene_variant,,ENST00000497245,;FBXO24,upstream_gene_variant,,ENST00000468962,;PCOLCE-AS1,downstream_gene_variant,,ENST00000442166,;FBXO24,intron_variant,,ENST00000498195,;FBXO24,5_prime_UTR_variant,,ENST00000488079,;FBXO24,non_coding_transcript_exon_variant,,ENST00000474649,;LRCH4,upstream_gene_variant,,ENST00000485583,;LRCH4,upstream_gene_variant,,ENST00000470184,;	.	50	25	SUCCESS
ACHE	43	.	GRCh37	7	100488791	100488791	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs779839348	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	5	170	0	ENST00000241069.5:c.1722C>T		p.X574_splice	ENST00000241069	NM_000665.3	574	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS5710.1	1722	MUTECT|MUSE	.	ATACCGGTGGC	NONE	byFrequency	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF171	.	.	ENSP00000303211	.	4/5	.	.	.	.	.	.	.	.	rs779839348	4/5	PASS	ENST00000302913	Transcript	.	.	ENSG00000087085	108	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACES_HUMAN	ACHE	HGNC	C9JUK5_HUMAN,C9JD78_HUMAN	.	UPI0000140DF0	SNV	ACHE,synonymous_variant,p.%3D,ENST00000241069,;ACHE,synonymous_variant,p.%3D,ENST00000419336,;ACHE,synonymous_variant,p.%3D,ENST00000428317,;ACHE,synonymous_variant,p.%3D,ENST00000411582,;ACHE,synonymous_variant,p.%3D,ENST00000412389,;ACHE,synonymous_variant,p.%3D,ENST00000302913,;ACHE,intron_variant,,ENST00000426415,;ACHE,intron_variant,,ENST00000430554,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000388793,;SRRT,downstream_gene_variant,,ENST00000457580,;SRRT,downstream_gene_variant,,ENST00000347433,;SRRT,downstream_gene_variant,,ENST00000432932,;UFSP1,upstream_gene_variant,,ENST00000388761,;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,splice_region_variant,,ENST00000442452,;ACHE,splice_region_variant,,ENST00000454485,;ACHE,splice_region_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000449389,;SRRT,downstream_gene_variant,,ENST00000469602,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000466432,;SRRT,downstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000487311,;	1861	170	135	SUCCESS
AP1S1	1174	.	GRCh37	7	100797700	100797700	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	112	0	ENST00000337619.5:c.-96G>A		p.*32*	ENST00000337619	NM_001283.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCGGGCGAG	NONE	.	.	.	.	.	ENSP00000336666	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000337619	Transcript	.	.	ENSG00000106367	559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1S1_HUMAN	AP1S1	HGNC	.	.	UPI0000027F3C	SNV	AP1S1,5_prime_UTR_variant,,ENST00000337619,;AP1S1,upstream_gene_variant,,ENST00000429457,;AP1S1,upstream_gene_variant,,ENST00000443943,;	23	112	50	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117364621	117364621	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	39	0	ENST00000160373.3:c.4427A>G	p.Lys1476Arg	p.K1476R	ENST00000160373	NM_033427.2	1476	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS5774.1	4427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTTATTC	NONE	.	.	hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.15)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Lys964Arg,ENST00000446636,;CTTNBP2,missense_variant,p.Lys1476Arg,ENST00000160373,;CTTNBP2,3_prime_UTR_variant,,ENST00000445366,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	4519	39	44	SUCCESS
SDK1	221935	.	GRCh37	7	3998631	3998631	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs780085119	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	79	0	ENST00000404826.2:c.1219G>A	p.Gly407Arg	p.G407R	ENST00000404826	NM_152744.3	407	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS34590.1	1219	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCGGATGT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000385899	.	8/45	.	.	.	.	.	.	.	.	rs780085119,COSM1089527	8/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.019)	.	deleterious(0.03)	0,1	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Gly407Arg,ENST00000404826,;SDK1,missense_variant,p.Gly407Arg,ENST00000389531,;SDK1,downstream_gene_variant,,ENST00000426596,;	1358	79	75	SUCCESS
TNS3	64759	.	GRCh37	7	47343131	47343131	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	54	0	ENST00000311160.9:c.2874T>A	p.Val958=	p.V958=	ENST00000311160	NM_022748.11	958	gtT/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5506.2	2874	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAAACCAT	NONE	.	.	hmmpanther:PTHR12305:SF41,hmmpanther:PTHR12305	.	.	ENSP00000381854	.	22/31	.	.	.	.	.	.	.	.	.	22/31	PASS	ENST00000398879	Transcript	.	.	ENSG00000136205	21616	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TENS3_HUMAN	TNS3	HGNC	C9JWN9_HUMAN,C9JTD0_HUMAN	.	UPI00001AE9DA	SNV	TNS3,synonymous_variant,p.%3D,ENST00000398879,;TNS3,synonymous_variant,p.%3D,ENST00000311160,;TNS3,synonymous_variant,p.%3D,ENST00000457718,;TNS3,synonymous_variant,p.%3D,ENST00000355730,;	3241	54	50	SUCCESS
ABCA13	154664	.	GRCh37	7	48412063	48412063	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs759344761	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	10	60	0	ENST00000435803.1:c.11102A>G	p.Asn3701Ser	p.N3701S	ENST00000435803	NM_152701.3	3701	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS47584.1	11102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATAACCAAT	NONE	.	.	Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	.	.	ENSP00000411096	.	33/62	.	.	.	.	.	.	.	.	rs759344761	33/62	PASS	ENST00000435803	Transcript	.	.	ENSG00000179869	14638	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.21)	.	.	.	ABCAD_HUMAN	ABCA13	HGNC	.	.	UPI00001A95EA	SNV	ABCA13,missense_variant,p.Asn3701Ser,ENST00000435803,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;	11126	60	49	SUCCESS
MAGI2	9863	.	GRCh37	7	77807384	77807384	+	synonymous_variant	Silent	SNP	T	T	G	rs1563221199	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	20	59	0	ENST00000354212.4:c.2347A>C	p.Arg783=	p.R783=	ENST00000354212	NM_012301.3	783	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS5594.1	2347	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTCCGAA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000346151	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000354212	Transcript	.	.	ENSG00000187391	18957	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGI2_HUMAN	MAGI2	HGNC	.	.	UPI00001615D2	SNV	MAGI2,synonymous_variant,p.%3D,ENST00000354212,;MAGI2,synonymous_variant,p.%3D,ENST00000419488,;MAGI2,synonymous_variant,p.%3D,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000522342,;MAGI2,non_coding_transcript_exon_variant,,ENST00000524316,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;	2601	59	89	SUCCESS
TUSC3	7991	.	GRCh37	8	15601113	15601113	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	63	0	ENST00000503731.1:c.929A>G	p.Lys310Arg	p.K310R	ENST00000503731	NM_006765.3	310	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS5994.1	929	MUTECT|MUSE	.	TGGAAAAAGAC	NONE	.	.	hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692,Pfam_domain:PF04756	.	.	ENSP00000424544	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.579)	.	tolerated(0.17)	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,missense_variant,p.Lys310Arg,ENST00000382020,;TUSC3,missense_variant,p.Lys264Arg,ENST00000511783,;TUSC3,missense_variant,p.Lys310Arg,ENST00000506802,;TUSC3,missense_variant,p.Lys310Arg,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000508446,;TUSC3,3_prime_UTR_variant,,ENST00000515859,;TUSC3,3_prime_UTR_variant,,ENST00000510836,;TUSC3,non_coding_transcript_exon_variant,,ENST00000511342,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507316,;	1077	63	42	SUCCESS
LRRC8A	56262	.	GRCh37	9	131670444	131670444	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	70	0	ENST00000259324.5:c.1001T>A	p.Leu334His	p.L334H	ENST00000259324	NM_001127244.1	334	cTc/cAc	0	.	.	.	.	.	A	L/H	protein_coding	YES	CCDS35155.1	1001	MUTECT|MUSE|VARSCANS	.	CGGCCTCATCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39	.	.	ENSP00000259324	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000259324	Transcript	.	.	ENSG00000136802	19027	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.831)	.	deleterious(0.02)	.	LRC8A_HUMAN	LRRC8A	HGNC	Q96SW8_HUMAN	.	UPI000004EF9E	SNV	LRRC8A,missense_variant,p.Leu334His,ENST00000259324,;LRRC8A,missense_variant,p.Leu334His,ENST00000372600,;LRRC8A,missense_variant,p.Leu334His,ENST00000372599,;LRRC8A,upstream_gene_variant,,ENST00000492784,;	1524	70	51	SUCCESS
CRAT	1384	.	GRCh37	9	131866547	131866547	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	50	236	0	ENST00000318080.2:c.330C>T	p.Tyr110=	p.Y110=	ENST00000318080	NM_001257363.1	110	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS6919.1	330	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCGGTACTG	NONE	.	.	hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF50,Pfam_domain:PF00755,Superfamily_domains:SSF52777	.	.	ENSP00000315013	.	3/14	.	.	.	.	.	.	.	.	COSM3375116	3/14	PASS	ENST00000318080	Transcript	.	.	ENSG00000095321	2342	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CACP_HUMAN	CRAT	HGNC	.	.	UPI000014021A	SNV	CRAT,synonymous_variant,p.%3D,ENST00000318080,;CRAT,downstream_gene_variant,,ENST00000455830,;CRAT,downstream_gene_variant,,ENST00000393384,;AL158151.2,downstream_gene_variant,,ENST00000408594,;RP11-247A12.1,downstream_gene_variant,,ENST00000434250,;CRAT,intron_variant,,ENST00000464290,;CRAT,3_prime_UTR_variant,,ENST00000441796,;CRAT,3_prime_UTR_variant,,ENST00000415948,;CRAT,3_prime_UTR_variant,,ENST00000458362,;	625	236	184	SUCCESS
LHX3	8022	.	GRCh37	9	139089248	139089248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	49	233	0	ENST00000371748.5:c.1117G>T	p.Gly373Trp	p.G373W	ENST00000371748	NM_178138.4	373	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS6995.1	1132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCCCGTGG	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF65	.	.	ENSP00000360811	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000371746	Transcript	.	.	ENSG00000107187	6595	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	LHX3_HUMAN	LHX3	HGNC	F1T0D9_HUMAN,F1T0D8_HUMAN	.	UPI000002AD3D	SNV	LHX3,missense_variant,p.Gly378Trp,ENST00000371746,;LHX3,missense_variant,p.Gly373Trp,ENST00000371748,;	1251	233	164	SUCCESS
SLC34A3	142680	.	GRCh37	9	140127035	140127035	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs754789761	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	58	0	ENST00000361134.2:c.184G>A	p.Val62Met	p.V62M	ENST00000361134	NM_080877.2	62	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS7038.1	184	MUTECT|MUSE	.	TCCGCGTGGCC	NONE	byFrequency	.	hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF22	.	.	ENSP00000442397	.	4/13	.	.	.	.	.	.	.	.	rs754789761	4/13	PASS	ENST00000538474	Transcript	.	.	ENSG00000198569	20305	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.21)	.	NPT2C_HUMAN	SLC34A3	HGNC	D9N3A0_HUMAN	.	UPI00004577EA	SNV	SLC34A3,missense_variant,p.Val62Met,ENST00000361134,;SLC34A3,missense_variant,p.Val62Met,ENST00000538474,;RNF224,downstream_gene_variant,,ENST00000445101,;	408	58	45	SUCCESS
ZCCHC6	0	.	GRCh37	9	88938154	88938154	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	30	77	0	ENST00000375963.3:c.2511G>T	p.Gln837His	p.Q837H	ENST00000375963	NM_001185059.1	837	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS35057.1	2511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTCTGGCC	NONE	.	.	hmmpanther:PTHR12271:SF34,hmmpanther:PTHR12271	.	.	ENSP00000365130	.	13/27	.	.	.	.	.	.	.	.	COSM3908644	13/27	PASS	ENST00000375963	Transcript	.	.	ENSG00000083223	25817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.2)	1	TUT7_HUMAN	ZCCHC6	HGNC	.	.	UPI00004588F6	SNV	ZCCHC6,missense_variant,p.Gln837His,ENST00000375961,;ZCCHC6,missense_variant,p.Gln126His,ENST00000277141,;ZCCHC6,missense_variant,p.Gln714His,ENST00000375960,;ZCCHC6,missense_variant,p.Gln837His,ENST00000375963,;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	2684	77	93	SUCCESS
BICD2	23299	.	GRCh37	9	95491346	95491346	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	42	0	ENST00000375512.3:c.413A>G	p.Glu138Gly	p.E138G	ENST00000375512	NM_015250.3	138	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS35064.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTCCGAC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7,Pfam_domain:PF09730	.	.	ENSP00000349351	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000356884	Transcript	.	.	ENSG00000185963	17208	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.794)	.	deleterious(0)	.	BICD2_HUMAN	BICD2	HGNC	.	.	UPI00001BBAF1	SNV	BICD2,missense_variant,p.Glu138Gly,ENST00000375512,;BICD2,missense_variant,p.Glu138Gly,ENST00000356884,;	481	42	44	SUCCESS
BHLHB9	80823	.	GRCh37	X	102003676	102003676	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	15	0	ENST00000361229.4:c.-248C>A		p.*83*	ENST00000361229	NM_030639.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14502.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCACCTT	NONE	.	.	.	.	.	ENSP00000361820	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372735	Transcript	.	.	ENSG00000198908	29353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHLH9_HUMAN	BHLHB9	HGNC	.	.	UPI00001C1D50	SNV	BHLHB9,5_prime_UTR_variant,,ENST00000448867,;BHLHB9,5_prime_UTR_variant,,ENST00000372735,;BHLHB9,5_prime_UTR_variant,,ENST00000447531,;BHLHB9,5_prime_UTR_variant,,ENST00000457056,;BHLHB9,5_prime_UTR_variant,,ENST00000361229,;BHLHB9,non_coding_transcript_exon_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;	338	15	20	SUCCESS
USP26	83844	.	GRCh37	X	132160217	132160217	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	74	0	ENST00000370832.1:c.2032A>T	p.Ser678Cys	p.S678C	ENST00000370832	NM_031907.1	678	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS14635.1	2032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTGGCAG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF379,hmmpanther:PTHR24006,Pfam_domain:PF00443	.	.	ENSP00000423390	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000511190	Transcript	.	.	ENSG00000134588	13485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	UBP26_HUMAN	USP26	HGNC	.	.	UPI00000421FD	SNV	USP26,missense_variant,p.Ser678Cys,ENST00000406273,;USP26,missense_variant,p.Ser678Cys,ENST00000511190,;USP26,missense_variant,p.Ser678Cys,ENST00000370832,;	2502	74	89	SUCCESS
SLITRK4	139065	.	GRCh37	X	142717487	142717487	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	57	166	0	ENST00000338017.4:c.1438T>G	p.Leu480Val	p.L480V	ENST00000338017		480	Tta/Gta	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS14679.1	1438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTAAGTACA	NONE	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	SNV	SLITRK4,missense_variant,p.Leu480Val,ENST00000381779,;SLITRK4,missense_variant,p.Leu480Val,ENST00000338017,;SLITRK4,missense_variant,p.Leu480Val,ENST00000356928,;	1664	166	218	SUCCESS
AVPR2	554	.	GRCh37	X	153171245	153171245	+	synonymous_variant	Silent	SNP	C	C	T	rs1557100550	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	118	0	ENST00000337474.5:c.285C>T	p.Pro95=	p.P95=	ENST00000337474	NM_001146151.1	95	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14735.1	285	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCCAGCT	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Prints_domain:PR00896,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24241:SF20,hmmpanther:PTHR24241,PROSITE_profiles:PS50262	.	.	ENSP00000351805	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000358927	Transcript	.	.	ENSG00000126895	897	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	V2R_HUMAN	AVPR2	HGNC	.	.	UPI000005043B	SNV	AVPR2,synonymous_variant,p.%3D,ENST00000358927,;AVPR2,synonymous_variant,p.%3D,ENST00000337474,;AVPR2,synonymous_variant,p.%3D,ENST00000430697,;AVPR2,synonymous_variant,p.%3D,ENST00000370049,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000537206,;ARHGAP4,downstream_gene_variant,,ENST00000350060,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000370028,;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,intron_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;	494	118	91	SUCCESS
DGKK	139189	.	GRCh37	X	50130552	50130552	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	27	75	0	ENST00000376025.2:n.2178A>T		p.X726_splice	ENST00000376025		726		0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTTTCAA	NONE	.	.	.	.	.	.	.	14/28	.	.	.	.	.	.	.	.	.	14/28	PASS	ENST00000376025	Transcript	.	.	ENSG00000204466	32395	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DGKK	HGNC	.	.	.	SNV	DGKK,splice_region_variant,,ENST00000376025,;DGKK,splice_region_variant,,ENST00000546288,;	2178	75	89	SUCCESS
ITGB1BP2	26548	.	GRCh37	X	70524435	70524435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	39	0	ENST00000373829.3:c.797C>A	p.Ala266Glu	p.A266E	ENST00000373829	NM_012278.1	266	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS14411.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGCACAGA	NONE	.	.	PROSITE_profiles:PS51203,hmmpanther:PTHR12621:SF8,hmmpanther:PTHR12621,Pfam_domain:PF04969,Gene3D:2.60.40.790,Superfamily_domains:SSF49764	.	.	ENSP00000362935	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000373829	Transcript	.	.	ENSG00000147166	6154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.88)	.	ITBP2_HUMAN	ITGB1BP2	HGNC	.	.	UPI000000103C	SNV	ITGB1BP2,missense_variant,p.Ala266Glu,ENST00000373829,;ITGB1BP2,missense_variant,p.Ala248Glu,ENST00000538820,;NONO,downstream_gene_variant,,ENST00000276079,;NONO,downstream_gene_variant,,ENST00000373856,;NONO,downstream_gene_variant,,ENST00000535149,;NONO,downstream_gene_variant,,ENST00000373841,;ITGB1BP2,non_coding_transcript_exon_variant,,ENST00000465388,;ITGB1BP2,non_coding_transcript_exon_variant,,ENST00000475413,;NONO,downstream_gene_variant,,ENST00000472185,;NONO,downstream_gene_variant,,ENST00000473525,;ITGB1BP2,downstream_gene_variant,,ENST00000483897,;NONO,downstream_gene_variant,,ENST00000490044,;NONO,downstream_gene_variant,,ENST00000474431,;AL590762.1,downstream_gene_variant,,ENST00000536900,;	870	39	35	SUCCESS
CDX4	1046	.	GRCh37	X	72667261	72667261	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373883804	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	32	111	0	ENST00000373514.2:c.172C>A	p.His58Asn	p.H58N	ENST00000373514	NM_005193.1	58	Cat/Aat	0	T:0	.	.	.	.	A	H/N	protein_coding	YES	CCDS14424.1	172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCATATG	NONE	byCluster	.	hmmpanther:PTHR24332,hmmpanther:PTHR24332:SF13,Pfam_domain:PF04731	.	T:0.0001	ENSP00000362613	.	1/3	.	.	.	.	.	.	.	.	rs373883804	1/3	PASS	ENST00000373514	Transcript	.	.	ENSG00000131264	1808	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	deleterious(0.01)	.	CDX4_HUMAN	CDX4	HGNC	.	.	UPI0000127473	SNV	CDX4,missense_variant,p.His58Asn,ENST00000373514,;	172	111	117	SUCCESS
WDR37	22884	.	GRCh37	10	1118109	1118109	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs767695186	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	7	104	0	ENST00000263150.4:c.14G>C	p.Ser5Thr	p.S5T	ENST00000263150	NM_014023.3	5	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS7057.1	14	MUTECT|MUSE	.	AGAAAGCGCAA	NONE	.	.	hmmpanther:PTHR19855:SF12,hmmpanther:PTHR19855	.	.	ENSP00000350954	.	2/14	.	.	.	.	.	.	.	.	rs767695186	2/14	PASS	ENST00000358220	Transcript	.	.	ENSG00000047056	31406	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.827)	.	tolerated_low_confidence(0.24)	.	WDR37_HUMAN	WDR37	HGNC	A8K976_HUMAN	.	UPI000013D3B7	SNV	WDR37,missense_variant,p.Ser5Thr,ENST00000263150,;WDR37,missense_variant,p.Ser5Thr,ENST00000358220,;WDR37,missense_variant,p.Ser5Thr,ENST00000381329,;WDR37,upstream_gene_variant,,ENST00000436154,;	158	104	99	SUCCESS
PNLIPRP1	5407	.	GRCh37	10	118351992	118351992	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141478509	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	89	0	ENST00000358834.4:c.269G>T	p.Arg90Leu	p.R90L	ENST00000358834	NM_006229.2	90	cGg/cTg	0	A:0	A:0	.	A:0	.	T	R/L	protein_coding	YES	CCDS7595.1	269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCGGTTCA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821	A:0.001	A:0.0002	ENSP00000433933	A:0	4/13	.	.	.	.	.	.	.	.	rs141478509	4/13	PASS	ENST00000528052	Transcript	.	A:0.0002	ENSG00000187021	9156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.95)	A:0	deleterious(0)	.	LIPR1_HUMAN	PNLIPRP1	HGNC	E9PR20_HUMAN,E9PMA6_HUMAN	.	UPI000012E6AA	SNV	PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000534537,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000471549,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000531984,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000358834,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000528052,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000527980,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000530319,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000442761,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525157,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000480870,;PNLIPRP1,upstream_gene_variant,,ENST00000510125,;PNLIPRP1,missense_variant,p.Arg90Leu,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000470678,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000482159,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,upstream_gene_variant,,ENST00000482833,;PNLIPRP1,downstream_gene_variant,,ENST00000530626,;	340	89	84	SUCCESS
GPR158	57512	.	GRCh37	10	25888075	25888075	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	30	0	ENST00000376351.3:c.3520T>A	p.Trp1174Arg	p.W1174R	ENST00000376351	NM_020752.2	1174	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS31166.1	3520	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTTGGGAG	NONE	.	.	hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	.	.	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.162)	.	deleterious(0)	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,missense_variant,p.Trp1174Arg,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	3879	30	35	SUCCESS
VSTM4	196740	.	GRCh37	10	50285295	50285295	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs753659403	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	3	70	0	ENST00000332853.4:c.603G>A	p.Trp201Ter	p.W201*	ENST00000332853	NM_001031746.3	201	tgG/tgA	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS31198.1	603	MUTECT|MUSE	.	GACTGCCAGAC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF8	.	.	ENSP00000331062	.	4/8	.	.	.	.	.	.	.	.	rs753659403	4/8	PASS	ENST00000332853	Transcript	.	.	ENSG00000165633	26470	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VSTM4_HUMAN	VSTM4	HGNC	.	.	UPI00001B01E4	SNV	VSTM4,stop_gained,p.Trp201Ter,ENST00000332853,;VSTM4,non_coding_transcript_exon_variant,,ENST00000476018,;	627	70	67	SUCCESS
KIAA1279	0	.	GRCh37	10	70775761	70775761	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	5	135	0	ENST00000361983.4:c.1455G>C	p.Met485Ile	p.M485I	ENST00000361983	NM_015634.3	485	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS7284.1	1455	MUTECT|MUSE	.	ATGATGGATTT	NONE	.	.	hmmpanther:PTHR20956,hmmpanther:PTHR20956:SF0,Pfam_domain:PF12309	.	.	ENSP00000354848	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361983	Transcript	1	.	ENSG00000198954	23419	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.795)	.	deleterious(0.02)	.	KBP_HUMAN	KIAA1279	HGNC	.	.	UPI000006FCAF	SNV	KIAA1279,missense_variant,p.Met485Ile,ENST00000361983,;KIAA1279,downstream_gene_variant,,ENST00000481912,;	1557	135	107	SUCCESS
C10orf12	0	.	GRCh37	10	98741959	98741959	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	119	0	ENST00000286067.2:c.812A>G	p.Asp271Gly	p.D271G	ENST00000286067	NM_015652.2	271	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS7452.1	812	MUTECT|MUSE	.	TGGAGACGTTT	NONE	.	.	hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2	.	.	ENSP00000286067	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286067	Transcript	.	.	ENSG00000155640	23420	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.628)	.	tolerated(0.12)	.	CJ012_HUMAN	C10orf12	HGNC	.	.	UPI000006F242	SNV	C10orf12,missense_variant,p.Asp271Gly,ENST00000286067,;LCOR,downstream_gene_variant,,ENST00000498444,;	919	119	116	SUCCESS
SNX19	399979	.	GRCh37	11	130773190	130773190	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	5	119	0	ENST00000265909.4:c.2533C>T	p.Gln845Ter	p.Q845*	ENST00000265909	NM_014758.2	845	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS31721.1	2533	MUTECT|MUSE	.	CTTTTGCATGT	NONE	.	.	Pfam_domain:PF08628,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27	.	.	ENSP00000265909	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,stop_gained,p.Gln85Ter,ENST00000534726,;SNX19,stop_gained,p.Gln225Ter,ENST00000528555,;SNX19,stop_gained,p.Gln288Ter,ENST00000539184,;SNX19,stop_gained,p.Gln845Ter,ENST00000265909,;SNX19,stop_gained,p.Gln85Ter,ENST00000545537,;SNX19,stop_gained,p.Gln225Ter,ENST00000530356,;SNX19,downstream_gene_variant,,ENST00000533214,;SNX19,non_coding_transcript_exon_variant,,ENST00000524460,;SNX19,non_coding_transcript_exon_variant,,ENST00000533318,;SNX19,non_coding_transcript_exon_variant,,ENST00000526579,;SNX19,non_coding_transcript_exon_variant,,ENST00000527451,;	3103	119	115	SUCCESS
SNX19	399979	.	GRCh37	11	130773191	130773191	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	119	0	ENST00000265909.4:c.2532G>T	p.Met844Ile	p.M844I	ENST00000265909	NM_014758.2	844	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS31721.1	2532	MUTECT|MUSE	.	TTTTGCATGTT	NONE	.	.	Pfam_domain:PF08628,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27	.	.	ENSP00000265909	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(1)	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,missense_variant,p.Met84Ile,ENST00000534726,;SNX19,missense_variant,p.Met224Ile,ENST00000528555,;SNX19,missense_variant,p.Met287Ile,ENST00000539184,;SNX19,missense_variant,p.Met844Ile,ENST00000265909,;SNX19,missense_variant,p.Met84Ile,ENST00000545537,;SNX19,missense_variant,p.Met224Ile,ENST00000530356,;SNX19,downstream_gene_variant,,ENST00000533214,;SNX19,non_coding_transcript_exon_variant,,ENST00000524460,;SNX19,non_coding_transcript_exon_variant,,ENST00000533318,;SNX19,non_coding_transcript_exon_variant,,ENST00000526579,;SNX19,non_coding_transcript_exon_variant,,ENST00000527451,;	3102	119	111	SUCCESS
CPSF7	79869	.	GRCh37	11	61183611	61183611	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs143271041	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	81	0	ENST00000394888.4:c.931A>G	p.Met311Val	p.M311V	ENST00000394888	NM_001136040.2	311	Atg/Gtg	0	C:0	.	.	.	.	C	M/V	protein_coding	YES	CCDS8006.2	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATGTAAG	NONE	byCluster	.	hmmpanther:PTHR23204:SF2,hmmpanther:PTHR23204	.	C:0.0001	ENSP00000345412	.	6/10	.	.	.	.	.	.	.	.	rs143271041	6/10	PASS	ENST00000340437	Transcript	.	.	ENSG00000149532	30098	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.29)	.	CPSF7_HUMAN	CPSF7	HGNC	C9JM38_HUMAN,C9J323_HUMAN,C9J286_HUMAN	.	UPI0001881B56	SNV	CPSF7,missense_variant,p.Met235Val,ENST00000477890,;CPSF7,missense_variant,p.Met354Val,ENST00000340437,;CPSF7,missense_variant,p.Met302Val,ENST00000439958,;CPSF7,missense_variant,p.Met311Val,ENST00000394888,;CPSF7,missense_variant,p.Met302Val,ENST00000448745,;CPSF7,downstream_gene_variant,,ENST00000413184,;CPSF7,downstream_gene_variant,,ENST00000449811,;CPSF7,downstream_gene_variant,,ENST00000544585,;CPSF7,downstream_gene_variant,,ENST00000413232,;CPSF7,downstream_gene_variant,,ENST00000541963,;CPSF7,downstream_gene_variant,,ENST00000450000,;CPSF7,downstream_gene_variant,,ENST00000539952,;CPSF7,downstream_gene_variant,,ENST00000463244,;CPSF7,downstream_gene_variant,,ENST00000545934,;CPSF7,non_coding_transcript_exon_variant,,ENST00000537641,;CPSF7,downstream_gene_variant,,ENST00000543545,;CPSF7,downstream_gene_variant,,ENST00000537162,;CPSF7,downstream_gene_variant,,ENST00000536145,;CPSF7,downstream_gene_variant,,ENST00000535222,;CPSF7,downstream_gene_variant,,ENST00000536548,;CPSF7,downstream_gene_variant,,ENST00000544990,;CPSF7,downstream_gene_variant,,ENST00000544669,;	1141	81	56	SUCCESS
CARNS1	57571	.	GRCh37	11	67191670	67191670	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs781669252	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	28	143	0	ENST00000307823.3:c.2082G>A	p.Met694Ile	p.M694I	ENST00000307823	NM_020811.1	694	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS53667.1	2451	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCATGGGTGG	NONE	.	.	PROSITE_profiles:PS50975,hmmpanther:PTHR10578:SF57,hmmpanther:PTHR10578,Pfam_domain:PF13535,Gene3D:3.30.470.20,Superfamily_domains:SSF56059	.	.	ENSP00000389009	.	9/9	.	.	.	.	.	.	.	.	rs781669252	9/9	PASS	ENST00000445895	Transcript	.	.	ENSG00000172508	29268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.523)	.	deleterious(0.01)	.	.	CARNS1	HGNC	F5H427_HUMAN	.	UPI0001B99E02	SNV	CARNS1,missense_variant,p.Met694Ile,ENST00000307823,;CARNS1,missense_variant,p.Met791Ile,ENST00000531040,;CARNS1,missense_variant,p.Met694Ile,ENST00000423745,;CARNS1,missense_variant,p.Met817Ile,ENST00000445895,;RPS6KB2,upstream_gene_variant,,ENST00000524934,;PPP1CA,upstream_gene_variant,,ENST00000542876,;RPS6KB2,upstream_gene_variant,,ENST00000539188,;PPP1CA,upstream_gene_variant,,ENST00000546202,;RPS6KB2,upstream_gene_variant,,ENST00000312629,;CARNS1,downstream_gene_variant,,ENST00000524740,;RPS6KB2,upstream_gene_variant,,ENST00000524814,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531388,;CARNS1,intron_variant,,ENST00000531958,;RPS6KB2,upstream_gene_variant,,ENST00000420069,;RPS6KB2,upstream_gene_variant,,ENST00000525088,;RPS6KB2,upstream_gene_variant,,ENST00000528964,;RPS6KB2,upstream_gene_variant,,ENST00000530623,;RPS6KB2,upstream_gene_variant,,ENST00000556575,;	2565	143	106	SUCCESS
TYR	7299	.	GRCh37	11	88924399	88924399	+	synonymous_variant	Silent	SNP	C	C	T	rs1422178272	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	49	133	0	ENST00000263321.5:c.849C>T	p.Asn283=	p.N283=	ENST00000263321	NM_000372.4	283	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS8284.1	849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAACAGCCA	NONE	.	.	hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16,Pfam_domain:PF00264,Gene3D:1.10.1280.10,Superfamily_domains:SSF48056	.	.	ENSP00000263321	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000263321	Transcript	.	.	ENSG00000077498	12442	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYRO_HUMAN	TYR	HGNC	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN	.	UPI000004441A	SNV	TYR,synonymous_variant,p.%3D,ENST00000263321,;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;	1351	133	153	SUCCESS
LRRC43	254050	.	GRCh37	12	122677539	122677539	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	30	122	0	ENST00000339777.4:c.1337G>A	p.Cys446Tyr	p.C446Y	ENST00000339777	NM_152759.4	446	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS45001.1	1337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGCCCGT	NONE	.	.	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF224	.	.	ENSP00000344233	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000339777	Transcript	.	.	ENSG00000158113	28562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.1)	.	LRC43_HUMAN	LRRC43	HGNC	F5H0N3_HUMAN	.	UPI00015347BE	SNV	LRRC43,missense_variant,p.Cys446Tyr,ENST00000339777,;LRRC43,missense_variant,p.Cys261Tyr,ENST00000425921,;LRRC43,downstream_gene_variant,,ENST00000537729,;LRRC43,intron_variant,,ENST00000541498,;	1365	122	99	SUCCESS
WNT1	7471	.	GRCh37	12	49374381	49374381	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	22	172	0	ENST00000293549.3:c.533G>A	p.Arg178His	p.R178H	ENST00000293549	NM_005430.3	178	cGc/cAc	0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS8776.1	533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCGCCTCT	NONE	.	.	hmmpanther:PTHR12027:SF80,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	.	.	ENSP00000293549	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000293549	Transcript	.	.	ENSG00000125084	12774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.54)	.	WNT1_HUMAN	WNT1	HGNC	.	.	UPI0000051043	SNV	WNT1,missense_variant,p.Arg178His,ENST00000293549,;RNU6-940P,downstream_gene_variant,,ENST00000363433,;	569	172	116	SUCCESS
CS	1431	.	GRCh37	12	56667010	56667010	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	30	162	0	ENST00000351328.3:c.1259A>G	p.Tyr420Cys	p.Y420C	ENST00000351328	NM_004077.2	420	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS8913.1	1259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGTAGTAA	NONE	.	.	hmmpanther:PTHR11739,hmmpanther:PTHR11739:SF8,Pfam_domain:PF00285,TIGRFAM_domain:TIGR01793,Superfamily_domains:SSF48256,Prints_domain:PR00143	.	.	ENSP00000342056	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000351328	Transcript	.	.	ENSG00000062485	2422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CISY_HUMAN	CS	HGNC	Q0QEL2_HUMAN,F8W642_HUMAN,F8W4S1_HUMAN,F8VZK9_HUMAN,F8VX68_HUMAN,F8VX07_HUMAN,F8VRP1_HUMAN,F8VPF9_HUMAN,F8VPA1_HUMAN	.	UPI00000700D6	SNV	CS,missense_variant,p.Tyr354Cys,ENST00000548567,;CS,missense_variant,p.Tyr93Cys,ENST00000548746,;CS,missense_variant,p.Tyr420Cys,ENST00000351328,;CS,missense_variant,p.Tyr407Cys,ENST00000542324,;COQ10A,downstream_gene_variant,,ENST00000308197,;CS,downstream_gene_variant,,ENST00000551253,;COQ10A,downstream_gene_variant,,ENST00000546544,;CS,downstream_gene_variant,,ENST00000551936,;COQ10A,downstream_gene_variant,,ENST00000433805,;CS,downstream_gene_variant,,ENST00000548041,;CS,downstream_gene_variant,,ENST00000550734,;COQ10A,downstream_gene_variant,,ENST00000551814,;CS,downstream_gene_variant,,ENST00000546930,;COQ10A,downstream_gene_variant,,ENST00000553234,;CS,downstream_gene_variant,,ENST00000549221,;RP11-977G19.14,upstream_gene_variant,,ENST00000546464,;CS,3_prime_UTR_variant,,ENST00000549143,;CS,non_coding_transcript_exon_variant,,ENST00000546621,;COQ10A,downstream_gene_variant,,ENST00000546614,;CS,downstream_gene_variant,,ENST00000548849,;COQ10A,downstream_gene_variant,,ENST00000551911,;COQ10A,downstream_gene_variant,,ENST00000549545,;CS,downstream_gene_variant,,ENST00000552331,;CS,downstream_gene_variant,,ENST00000546891,;COQ10A,downstream_gene_variant,,ENST00000550071,;CS,downstream_gene_variant,,ENST00000546585,;	1450	162	142	SUCCESS
DAOA	267012	.	GRCh37	13	106124951	106124951	+	synonymous_variant	Silent	SNP	G	G	A	rs201206506	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	39	119	1	ENST00000375936.3:c.198G>A	p.Glu66=	p.E66=	ENST00000375936	NM_001161812.1	66	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS41905.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAGGACGG	NONE	byCluster	.	.	.	.	ENSP00000365103	.	3/5	.	.	.	.	.	.	.	.	rs201206506	3/5	PASS	ENST00000375936	Transcript	.	.	ENSG00000182346	21191	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAOA_HUMAN	DAOA	HGNC	.	.	UPI00001B01AA	SNV	DAOA,synonymous_variant,p.%3D,ENST00000375936,;DAOA,5_prime_UTR_variant,,ENST00000329625,;DAOA-AS1,intron_variant,,ENST00000448407,;DAOA,missense_variant,p.Arg2Lys,ENST00000595812,;DAOA,synonymous_variant,p.%3D,ENST00000601240,;DAOA,synonymous_variant,p.%3D,ENST00000473269,;DAOA,3_prime_UTR_variant,,ENST00000471432,;DAOA,5_prime_UTR_variant,,ENST00000600388,;DAOA,5_prime_UTR_variant,,ENST00000559369,;DAOA,5_prime_UTR_variant,,ENST00000488534,;DAOA,3_prime_UTR_variant,,ENST00000489237,;	244	120	161	SUCCESS
COL4A2	1284	.	GRCh37	13	111125290	111125290	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	12	191	0	ENST00000360467.5:c.2218C>T	p.Arg740Ter	p.R740*	ENST00000360467	NM_001846.2	740	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS41907.1	2218	MUTECT|MUSE	.	GACCCCGAGGA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	.	.	ENSP00000353654	.	29/48	.	.	.	.	.	.	.	.	.	29/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,stop_gained,p.Arg740Ter,ENST00000360467,;COL4A2,non_coding_transcript_exon_variant,,ENST00000494852,;COL4A2,upstream_gene_variant,,ENST00000483683,;	2524	191	181	SUCCESS
N4BP2L2	10443	.	GRCh37	13	33109968	33109968	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs764287750	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	5	86	0	ENST00000267068.3:c.1197A>T	p.Lys399Asn	p.K399N	ENST00000267068	NM_014887.2	399	aaA/aaT	0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45024.1	.	MUTECT|MUSE	.	TGCAATTTATT	NONE	.	.	.	.	.	ENSP00000382328	.	.	.	.	.	.	.	.	.	.	rs764287750	.	PASS	ENST00000399396	Transcript	.	.	ENSG00000244754	26916	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	N42L2_HUMAN	N4BP2L2	HGNC	Q6ZV26_HUMAN,B4DPY1_HUMAN	.	UPI00015C73C2	SNV	N4BP2L2,missense_variant,p.Lys399Asn,ENST00000446957,;N4BP2L2,missense_variant,p.Lys399Asn,ENST00000267068,;N4BP2L2,missense_variant,p.Lys399Asn,ENST00000505213,;N4BP2L2,intron_variant,,ENST00000504114,;N4BP2L2,intron_variant,,ENST00000357505,;N4BP2L2,intron_variant,,ENST00000399396,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000475731,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000512755,;N4BP2L2,intron_variant,,ENST00000511143,;N4BP2L2,downstream_gene_variant,,ENST00000483088,;	.	86	84	SUCCESS
SPG20	0	.	GRCh37	13	36905735	36905735	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	79	0	ENST00000451493.1:c.811-2A>G		p.X271_splice	ENST00000451493	NM_001142295.1	271		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9356.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTGAAAG	NONE	.	.	.	.	.	ENSP00000414147	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451493	Transcript	.	.	ENSG00000133104	18514	.	.	HIGH	2/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPG20_HUMAN	SPG20	HGNC	.	.	UPI000006F5EE	SNV	SPG20,splice_acceptor_variant,,ENST00000438666,;SPG20,splice_acceptor_variant,,ENST00000451493,;SPG20,splice_acceptor_variant,,ENST00000494062,;SPG20,splice_acceptor_variant,,ENST00000355182,;SPG20,splice_acceptor_variant,,ENST00000495510,;SPG20,downstream_gene_variant,,ENST00000476377,;SPG20,upstream_gene_variant,,ENST00000475603,;SPG20,downstream_gene_variant,,ENST00000494703,;	.	79	88	SUCCESS
POSTN	10631	.	GRCh37	13	38153242	38153242	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	19	104	0	ENST00000379747.4:c.1808T>C	p.Leu603Pro	p.L603P	ENST00000379747	NM_006475.2	603	cTg/cCg	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS9364.1	1808	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCAGAAGT	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	14/23	.	.	.	.	.	.	.	.	.	14/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.912)	.	tolerated(0.19)	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	SNV	POSTN,missense_variant,p.Leu603Pro,ENST00000379747,;POSTN,missense_variant,p.Leu603Pro,ENST00000379749,;POSTN,missense_variant,p.Leu603Pro,ENST00000541481,;POSTN,missense_variant,p.Leu603Pro,ENST00000379743,;POSTN,missense_variant,p.Leu603Pro,ENST00000541179,;POSTN,missense_variant,p.Leu603Pro,ENST00000379742,;	1926	104	144	SUCCESS
PPP2R5C	5527	.	GRCh37	14	102356589	102356590	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	110	21	138	0	ENST00000334743.5:c.647_648del	p.Glu216AlafsTer3	p.E216Afs*3	ENST00000334743	NM_002719.3	215	acAGag/acag	0	.	.	.	.	.	-	TE/TX	protein_coding	YES	CCDS53912.1	738-739	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAAACAGAGCAT	NONE	.	.	hmmpanther:PTHR10257,Pfam_domain:PF01603,Gene3D:1.25.10.10,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371	.	.	ENSP00000412324	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000422945	Transcript	.	.	ENSG00000078304	9311	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	2A5G_HUMAN	PPP2R5C	HGNC	H0YJ75_HUMAN	.	UPI0001A7AE62	deletion	PPP2R5C,frameshift_variant,p.Glu185AlafsTer3,ENST00000557621,;PPP2R5C,frameshift_variant,p.Glu216AlafsTer3,ENST00000350249,;PPP2R5C,frameshift_variant,p.Glu15AlafsTer3,ENST00000557716,;PPP2R5C,frameshift_variant,p.Glu216AlafsTer3,ENST00000445439,;PPP2R5C,frameshift_variant,p.Glu247AlafsTer3,ENST00000422945,;PPP2R5C,frameshift_variant,p.Glu271AlafsTer3,ENST00000328724,;PPP2R5C,frameshift_variant,p.Glu216AlafsTer3,ENST00000334743,;PPP2R5C,frameshift_variant,p.Glu216AlafsTer3,ENST00000557095,;PPP2R5C,frameshift_variant,p.Glu245AlafsTer3,ENST00000557268,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000556218,;PPP2R5C,3_prime_UTR_variant,,ENST00000554137,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000556805,;PPP2R5C,intron_variant,,ENST00000557534,;	834-835	138	131	SUCCESS
IGHG1	3500	.	GRCh37	14	106209353	106209353	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1443357057	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	20	79	0	ENST00000390549.2:c.56C>A	p.Ser19Tyr	p.S19Y	ENST00000390549		19	tCt/tAt	0	.	.	.	.	.	T	S/Y	IG_C_gene	YES	.	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGAGGTG	NONE	.	.	Superfamily_domains:SSF48726,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835	.	.	ENSP00000374990	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000390548	Transcript	1	.	ENSG00000211896	5525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.745)	.	deleterious(0)	.	.	IGHG1	HGNC	.	.	UPI000173A69D	SNV	IGHG1,missense_variant,p.Ser19Tyr,ENST00000390542,;IGHG1,missense_variant,p.Ser19Tyr,ENST00000390549,;IGHG1,missense_variant,p.Ser19Tyr,ENST00000390548,;	56	79	62	SUCCESS
OR11H6	122748	.	GRCh37	14	20692462	20692462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	21	88	0	ENST00000315519.2:c.594C>A	p.Asp198Glu	p.D198E	ENST00000315519	NM_001004480.1	198	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS32033.1	594	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGACCCAGG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF90,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000319071	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315519	Transcript	.	.	ENSG00000176219	15349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	O11H6_HUMAN	OR11H6	HGNC	.	.	UPI000004B1F1	SNV	OR11H6,missense_variant,p.Asp198Glu,ENST00000315519,;	672	88	104	SUCCESS
PSMC6	5706	.	GRCh37	14	53175062	53175062	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	39	136	0	ENST00000606149.1:c.121G>T	p.Glu41Ter	p.E41*	ENST00000606149	NM_002806.3	41	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9710.2	163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGAAAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23073:SF24,hmmpanther:PTHR23073,TIGRFAM_domain:TIGR01242	.	.	ENSP00000401802	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000445930	Transcript	.	.	ENSG00000100519	9553	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PSMC6	HGNC	.	.	UPI00001FD556	SNV	PSMC6,stop_gained,p.Glu41Ter,ENST00000556813,;PSMC6,stop_gained,p.Glu41Ter,ENST00000606149,;PSMC6,stop_gained,p.Glu55Ter,ENST00000445930,;PSMC6,intron_variant,,ENST00000555339,;PSMC6,non_coding_transcript_exon_variant,,ENST00000554952,;PSMC6,stop_gained,p.Glu41Ter,ENST00000554044,;PSMC6,stop_gained,p.Glu41Ter,ENST00000557240,;PSMC6,3_prime_UTR_variant,,ENST00000557517,;PSMC6,3_prime_UTR_variant,,ENST00000553899,;PSMC6,3_prime_UTR_variant,,ENST00000553798,;PSMC6,non_coding_transcript_exon_variant,,ENST00000555887,;PSMC6,non_coding_transcript_exon_variant,,ENST00000554956,;PSMC6,intron_variant,,ENST00000458604,;PSMC6,upstream_gene_variant,,ENST00000557085,;	169	136	123	SUCCESS
TBL3	10607	.	GRCh37	16	2025894	2025894	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	18	194	0	ENST00000568546.1:c.1073G>T	p.Cys358Phe	p.C358F	ENST00000568546	NM_006453.2	358	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS10453.1	1073	RADIA|MUTECT|MUSE	.	CCCCTGCCTAA	NONE	.	.	Superfamily_domains:0049172,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294	.	.	ENSP00000454836	.	11/22	.	.	.	.	.	.	.	.	.	11/22	PASS	ENST00000568546	Transcript	.	.	ENSG00000183751	11587	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.078)	.	tolerated(0.16)	.	TBL3_HUMAN	TBL3	HGNC	A0JLS5_HUMAN	.	UPI000006F172	SNV	TBL3,missense_variant,p.Cys358Phe,ENST00000568546,;TBL3,missense_variant,p.Cys266Phe,ENST00000332704,;NOXO1,downstream_gene_variant,,ENST00000354249,;NOXO1,downstream_gene_variant,,ENST00000567471,;NOXO1,downstream_gene_variant,,ENST00000566005,;NOXO1,downstream_gene_variant,,ENST00000397280,;NOXO1,downstream_gene_variant,,ENST00000356120,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;TBL3,downstream_gene_variant,,ENST00000561907,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000569792,;TBL3,upstream_gene_variant,,ENST00000564171,;TBL3,upstream_gene_variant,,ENST00000567615,;NOXO1,downstream_gene_variant,,ENST00000569739,;	1201	194	109	SUCCESS
TBL3	10607	.	GRCh37	16	2025898	2025898	+	synonymous_variant	Silent	SNP	A	A	G	rs556701886	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	19	194	0	ENST00000568546.1:c.1077A>G	p.Leu359=	p.L359=	ENST00000568546	NM_006453.2	359	ctA/ctG	0	.	T:0	.	T:0.0014	.	G	L	protein_coding	YES	CCDS10453.1	1077	RADIA|MUTECT|MUSE	.	TGCCTAAAAGT	NONE	by1000G	.	Superfamily_domains:0049172,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294	T:0	.	ENSP00000454836	T:0	11/22	.	.	.	.	.	.	.	.	rs556701886	11/22	PASS	ENST00000568546	Transcript	.	T:0.0002	ENSG00000183751	11587	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	TBL3_HUMAN	TBL3	HGNC	A0JLS5_HUMAN	.	UPI000006F172	SNV	TBL3,synonymous_variant,p.%3D,ENST00000568546,;TBL3,synonymous_variant,p.%3D,ENST00000332704,;NOXO1,downstream_gene_variant,,ENST00000354249,;NOXO1,downstream_gene_variant,,ENST00000567471,;NOXO1,downstream_gene_variant,,ENST00000566005,;NOXO1,downstream_gene_variant,,ENST00000397280,;NOXO1,downstream_gene_variant,,ENST00000356120,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;TBL3,downstream_gene_variant,,ENST00000561907,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000569792,;TBL3,upstream_gene_variant,,ENST00000564171,;TBL3,upstream_gene_variant,,ENST00000567615,;NOXO1,downstream_gene_variant,,ENST00000569739,;	1205	194	115	SUCCESS
NOD2	64127	.	GRCh37	16	50744626	50744626	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	61	0	ENST00000300589.2:c.804C>T	p.Pro268=	p.P268=	ENST00000300589	NM_022162.1	268	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS10746.1	804	MUTECT|MUSE	.	GGACCCCCGCA	NONE	.	.	hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64	.	.	ENSP00000300589	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000300589	Transcript	.	.	ENSG00000167207	5331	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOD2_HUMAN	NOD2	HGNC	Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN	.	UPI000005027A	SNV	NOD2,synonymous_variant,p.%3D,ENST00000300589,;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,non_coding_transcript_exon_variant,,ENST00000532206,;NOD2,non_coding_transcript_exon_variant,,ENST00000526417,;NOD2,3_prime_UTR_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000527052,;NOD2,upstream_gene_variant,,ENST00000534067,;	909	61	49	SUCCESS
MT1H	4496	.	GRCh37	16	56704900	56704900	+	stop_retained_variant	Silent	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	7	57	0	ENST00000332374.4:c.185G>A	p.Ter62=	p.*62=	ENST00000332374	NM_005951.2	62	tGa/tAa	0	.	.	.	.	.	A	*	protein_coding	YES	CCDS10767.1	185	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTGATGTC	NONE	.	.	.	.	.	ENSP00000330587	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000332374	Transcript	.	.	ENSG00000205358	7400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT1H_HUMAN	MT1H	HGNC	.	.	UPI000012F6DC	SNV	MT1H,stop_retained_variant,p.%3D,ENST00000332374,;MT1H,3_prime_UTR_variant,,ENST00000569155,;MT1G,upstream_gene_variant,,ENST00000379811,;MT1G,upstream_gene_variant,,ENST00000444837,;MT1G,upstream_gene_variant,,ENST00000568675,;MT1G,upstream_gene_variant,,ENST00000569500,;	256	57	42	SUCCESS
CDH11	1009	.	GRCh37	16	64984667	64984667	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	41	0	ENST00000268603.4:c.1894+3A>G		p.X632_splice	ENST00000268603	NM_001797.2	632		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10803.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTTACCCA	NONE	.	.	.	.	.	ENSP00000268603	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	LOW	12/12	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,splice_region_variant,,ENST00000394156,;CDH11,splice_region_variant,,ENST00000268603,;CDH11,splice_region_variant,,ENST00000566827,;	.	41	63	SUCCESS
PSMD11	5717	.	GRCh37	17	30771555	30771555	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs868860552	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	4	161	0	ENST00000261712.3:c.14C>T	p.Ala5Val	p.A5V	ENST00000261712	NM_001270482.1	5	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11272.1	14	MUTECT|MUSE	.	GGCGGCGGTGG	NONE	.	.	hmmpanther:PTHR10678:SF4,hmmpanther:PTHR10678	.	.	ENSP00000261712	.	1/14	.	.	.	.	.	.	.	.	COSM3988913	1/14	PASS	ENST00000261712	Transcript	.	.	ENSG00000108671	9556	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.087)	.	tolerated(0.24)	1	PSD11_HUMAN	PSMD11	HGNC	J3KSW3_HUMAN	.	UPI0000132791	SNV	PSMD11,missense_variant,p.Ala5Val,ENST00000457654,;PSMD11,missense_variant,p.Ala5Val,ENST00000261712,;PSMD11,missense_variant,p.Ala5Val,ENST00000579451,;PSMD11,intron_variant,,ENST00000578213,;PSMD11,upstream_gene_variant,,ENST00000580904,;PSMD11,non_coding_transcript_exon_variant,,ENST00000481992,;PSMD11,non_coding_transcript_exon_variant,,ENST00000578397,;	277	161	152	SUCCESS
SEPT4	0	.	GRCh37	17	56604304	56604304	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	78	0	ENST00000457347.2:c.141A>T	p.Gly47=	p.G47=	ENST00000457347	NM_001256782.1	47	ggA/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS58582.1	141	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTCCATC	NONE	.	.	hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF2	.	.	ENSP00000402000	.	3/13	.	.	.	.	.	.	.	.	.	3/13	PASS	ENST00000457347	Transcript	.	.	ENSG00000108387	9165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPT4_HUMAN	SEPT4	HGNC	.	.	UPI00017A809C	SNV	SEPT4,synonymous_variant,p.%3D,ENST00000426861,;SEPT4,synonymous_variant,p.%3D,ENST00000583291,;SEPT4,synonymous_variant,p.%3D,ENST00000457347,;SEPT4,synonymous_variant,p.%3D,ENST00000581607,;SEPT4,synonymous_variant,p.%3D,ENST00000317256,;SEPT4,synonymous_variant,p.%3D,ENST00000412945,;SEPT4,synonymous_variant,p.%3D,ENST00000393086,;SEPT4,synonymous_variant,p.%3D,ENST00000317268,;SEPT4,5_prime_UTR_variant,,ENST00000583114,;SEPT4,intron_variant,,ENST00000579371,;SEPT4,intron_variant,,ENST00000580809,;SEPT4,intron_variant,,ENST00000577729,;SEPT4,intron_variant,,ENST00000580844,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,intron_variant,,ENST00000580769,;RP11-112H10.4,intron_variant,,ENST00000578022,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584528,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580740,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580791,;SEPT4,intron_variant,,ENST00000581921,;SEPT4,synonymous_variant,p.%3D,ENST00000581615,;SEPT4,synonymous_variant,p.%3D,ENST00000578131,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580796,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582248,;SEPT4,non_coding_transcript_exon_variant,,ENST00000583273,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584789,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584488,;SEPT4,non_coding_transcript_exon_variant,,ENST00000577440,;SEPT4,non_coding_transcript_exon_variant,,ENST00000585170,;SEPT4,non_coding_transcript_exon_variant,,ENST00000578747,;SEPT4,downstream_gene_variant,,ENST00000582976,;	286	78	55	SUCCESS
CLTC	1213	.	GRCh37	17	57724931	57724931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	12	155	0	ENST00000269122.3:c.423G>A	p.Met141Ile	p.M141I	ENST00000269122	NM_004859.3	141	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS32696.1	423	MUTECT|MUSE	.	AAAATGTTTGA	NONE	.	.	hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096	.	.	ENSP00000269122	.	3/32	.	.	.	.	.	.	.	.	.	3/32	PASS	ENST00000269122	Transcript	.	.	ENSG00000141367	2092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.002)	.	tolerated(0.47)	.	CLH1_HUMAN	CLTC	HGNC	Q49AL0_HUMAN	.	UPI0000127ABD	SNV	CLTC,missense_variant,p.Met141Ile,ENST00000269122,;CLTC,missense_variant,p.Met141Ile,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,downstream_gene_variant,,ENST00000580081,;CLTC,intron_variant,,ENST00000584313,;CLTC,upstream_gene_variant,,ENST00000472129,;CLTC,upstream_gene_variant,,ENST00000585198,;	697	155	172	SUCCESS
CEP112	201134	.	GRCh37	17	64128831	64128831	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762748449	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	82	0	ENST00000392769.2:c.521C>A	p.Pro174Gln	p.P174Q	ENST00000392769	NM_145036.3	174	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS32710.1	521	MUTECT|MUSE	.	GAGTTGGACTC	NONE	.	.	hmmpanther:PTHR18871	.	.	ENSP00000376522	.	5/27	.	.	.	.	.	.	.	.	rs762748449	5/27	PASS	ENST00000392769	Transcript	.	.	ENSG00000154240	28514	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.65)	.	tolerated(0.06)	.	CE112_HUMAN	CEP112	HGNC	J3QQV3_HUMAN	.	UPI0000603C26	SNV	CEP112,missense_variant,p.Pro174Gln,ENST00000537949,;CEP112,missense_variant,p.Pro174Gln,ENST00000392769,;CEP112,missense_variant,p.Pro174Gln,ENST00000535342,;CEP112,missense_variant,p.Pro174Gln,ENST00000583358,;	740	82	99	SUCCESS
ELAC1	55520	.	GRCh37	18	48510826	48510826	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	11	106	0	ENST00000269466.3:c.518T>G	p.Phe173Cys	p.F173C	ENST00000269466	NM_018696.2	173	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS11949.1	518	MUTECT|MUSE|VARSCANS	.	ACAATTTGTTG	NONE	.	.	HAMAP:MF_01818,hmmpanther:PTHR12553,Pfam_domain:PF12706,TIGRFAM_domain:TIGR02651,Gene3D:3.60.15.10,Superfamily_domains:SSF56281	.	.	ENSP00000269466	.	3/4	.	.	.	.	.	.	.	.	COSM280766	3/4	PASS	ENST00000269466	Transcript	.	.	ENSG00000141642	14197	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.926)	.	deleterious(0)	1	RNZ1_HUMAN	ELAC1	HGNC	.	.	UPI000006F39C	SNV	ELAC1,missense_variant,p.Phe173Cys,ENST00000591429,;ELAC1,missense_variant,p.Phe173Cys,ENST00000269466,;SMAD4,intron_variant,,ENST00000452201,;ELAC1,intron_variant,,ENST00000588577,;RP11-729L2.2,intron_variant,,ENST00000588256,;RP11-729L2.2,intron_variant,,ENST00000590722,;	625	106	123	SUCCESS
SERPINB3	6317	.	GRCh37	18	61323171	61323171	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377088096	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	23	109	0	ENST00000283752.5:c.893C>T	p.Thr298Met	p.T298M	ENST00000283752	NM_006919.2	298	aCg/aTg	0	A:0.0002	.	.	.	.	A	T/M	protein_coding	YES	CCDS11987.1	893	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAACGTGTCC	BUFFER|p.D297N|c.889G>A|4	byCluster	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	A:0	ENSP00000283752	.	8/8	.	.	.	.	.	.	.	.	rs377088096,COSM564061	8/8	PASS	ENST00000283752	Transcript	.	.	ENSG00000057149	10569	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.317)	.	tolerated(0.26)	0,1	SPB3_HUMAN	SERPINB3	HGNC	Q9BYH9_HUMAN	.	UPI0000038A19	SNV	SERPINB3,missense_variant,p.Thr246Met,ENST00000332821,;SERPINB3,missense_variant,p.Thr298Met,ENST00000283752,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;	1037	109	140	SUCCESS
ZNF407	55628	.	GRCh37	18	72344756	72344756	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	7	109	0	ENST00000299687.5:c.1781C>G	p.Ser594Ter	p.S594*	ENST00000299687	NM_017757.2	594	tCa/tGa	0	.	.	.	.	.	G	S/*	protein_coding	YES	CCDS45885.1	1781	MUTECT|MUSE	.	TTGTTCATTTA	NONE	.	.	Pfam_domain:PF13909,SMART_domains:SM00355	.	.	ENSP00000299687	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,stop_gained,p.Ser594Ter,ENST00000309902,;ZNF407,stop_gained,p.Ser594Ter,ENST00000299687,;ZNF407,stop_gained,p.Ser594Ter,ENST00000582337,;ZNF407,stop_gained,p.Ser594Ter,ENST00000577538,;	1781	109	116	SUCCESS
DPF1	8193	.	GRCh37	19	38713312	38713312	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	21	153	0	ENST00000420980.2:c.147C>G	p.His49Gln	p.H49Q	ENST00000420980	NM_004647.2	49	caC/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS46064.1	147	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCAGTGCTC	NONE	.	.	hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF92,Pfam_domain:PF14051	.	.	ENSP00000347716	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000355526	Transcript	.	.	ENSG00000011332	20225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.343)	.	tolerated(0.58)	.	DPF1_HUMAN	DPF1	HGNC	K7EJD5_HUMAN,C9JGC1_HUMAN,C9IZH8_HUMAN	.	UPI00018131F2	SNV	DPF1,missense_variant,p.His23Gln,ENST00000416611,;DPF1,missense_variant,p.His49Gln,ENST00000355526,;DPF1,missense_variant,p.His49Gln,ENST00000420980,;DPF1,missense_variant,p.His23Gln,ENST00000456296,;DPF1,5_prime_UTR_variant,,ENST00000586624,;DPF1,5_prime_UTR_variant,,ENST00000412732,;DPF1,5_prime_UTR_variant,,ENST00000438365,;DPF1,5_prime_UTR_variant,,ENST00000438060,;DPF1,5_prime_UTR_variant,,ENST00000414789,;DPF1,missense_variant,p.Leu22Val,ENST00000418517,;DPF1,non_coding_transcript_exon_variant,,ENST00000471976,;DPF1,non_coding_transcript_exon_variant,,ENST00000475938,;DPF1,upstream_gene_variant,,ENST00000473716,;	174	153	115	SUCCESS
EID2B	126272	.	GRCh37	19	40023135	40023135	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	269	28	319	0	ENST00000326282.4:c.308G>T	p.Ser103Ile	p.S103I	ENST00000326282	NM_152361.1	103	aGc/aTc	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS12539.1	308	RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCTACCA	NONE	.	.	hmmpanther:PTHR15556:SF4,hmmpanther:PTHR15556	.	.	ENSP00000317564	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326282	Transcript	.	.	ENSG00000176401	26796	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.059)	.	tolerated(0.08)	.	EID2B_HUMAN	EID2B	HGNC	.	.	UPI000006D7AF	SNV	EID2B,missense_variant,p.Ser103Ile,ENST00000326282,;CTB-60E11.9,non_coding_transcript_exon_variant,,ENST00000594676,;EID2B,intron_variant,,ENST00000601837,;TDGF1P7,upstream_gene_variant,,ENST00000593394,;	360	319	297	SUCCESS
PIN1	5300	.	GRCh37	19	9958913	9958913	+	intron_variant	Intron	SNP	C	C	G	rs777938691	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	30	0	ENST00000247970.4:c.382+97C>G		p.*128*	ENST00000247970	NM_006221.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12220.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACACCGGCC	NONE	byFrequency	.	.	.	.	ENSP00000247970	.	.	.	.	.	.	.	.	.	.	rs777938691	.	PASS	ENST00000247970	Transcript	.	.	ENSG00000127445	8988	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIN1_HUMAN	PIN1	HGNC	Q8NFL2_HUMAN	.	UPI000004062D	SNV	PIN1,3_prime_UTR_variant,,ENST00000587625,;PIN1,intron_variant,,ENST00000588695,;PIN1,intron_variant,,ENST00000247970,;AC008752.3,upstream_gene_variant,,ENST00000582439,;PIN1,intron_variant,,ENST00000589058,;PIN1,intron_variant,,ENST00000590540,;PIN1,intron_variant,,ENST00000380889,;PIN1,intron_variant,,ENST00000585442,;PIN1,intron_variant,,ENST00000591777,;PIN1,intron_variant,,ENST00000586025,;PIN1,intron_variant,,ENST00000586352,;	.	30	20	SUCCESS
COL11A1	1301	.	GRCh37	1	103455118	103455118	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs387906611	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	386	158	527	1	ENST00000370096.3:c.2350G>T	p.Gly784Cys	p.G784C	ENST00000370096	NM_001854.3	784	Ggt/Tgt	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS778.1	2350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	AAAACCATCTT	NONE	.	.	hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023	.	.	ENSP00000359114	.	29/67	.	.	.	.	.	.	.	.	rs387906611	29/67	PASS	ENST00000370096	Transcript	.	.	ENSG00000060718	2186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	.	COBA1_HUMAN	COL11A1	HGNC	Q4FAC4_HUMAN,B4DQZ0_HUMAN	.	UPI00002053EF	SNV	COL11A1,missense_variant,p.Gly668Cys,ENST00000512756,;COL11A1,missense_variant,p.Gly745Cys,ENST00000353414,;COL11A1,missense_variant,p.Gly784Cys,ENST00000370096,;COL11A1,missense_variant,p.Gly796Cys,ENST00000358392,;	2663	528	545	SUCCESS
VAV3	10451	.	GRCh37	1	108138911	108138911	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	38	95	0	ENST00000370056.4:c.2273T>C	p.Leu758Ser	p.L758S	ENST00000370056	NM_006113.4	758	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS785.1	2273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTAAGGTT	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	.	.	ENSP00000359073	.	25/27	.	.	.	.	.	.	.	.	COSM165474	25/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,missense_variant,p.Leu758Ser,ENST00000370056,;VAV3,missense_variant,p.Leu198Ser,ENST00000415432,;VAV3,missense_variant,p.Leu162Ser,ENST00000544443,;VAV3,missense_variant,p.Leu758Ser,ENST00000527011,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,downstream_gene_variant,,ENST00000529033,;VAV3,3_prime_UTR_variant,,ENST00000529413,;	2548	95	99	SUCCESS
CNTN2	6900	.	GRCh37	1	205036323	205036323	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	16	211	0	ENST00000331830.4:c.2070T>G	p.Ile690Met	p.I690M	ENST00000331830	NM_005076.3	690	atT/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS1449.1	2070	MUTECT|MUSE	.	AACATTCTGGG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50853	.	.	ENSP00000330633	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000331830	Transcript	.	.	ENSG00000184144	2172	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	tolerated(0.06)	.	CNTN2_HUMAN	CNTN2	HGNC	.	.	UPI00001266A5	SNV	CNTN2,missense_variant,p.Ile690Met,ENST00000331830,;AL583832.1,downstream_gene_variant,,ENST00000515887,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,downstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000525433,;CNTN2,downstream_gene_variant,,ENST00000527340,;CNTN2,downstream_gene_variant,,ENST00000530594,;	2354	211	217	SUCCESS
WDR26	80232	.	GRCh37	1	224586292	224586292	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	447	11	412	0	ENST00000414423.2:c.1569A>G	p.Val523=	p.V523=	ENST00000414423	NM_001115113.2	523	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS31037.2	1569	MUTECT|MUSE	.	TCTTGTACTCT	NONE	.	.	Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22838:SF0,hmmpanther:PTHR22838,PROSITE_profiles:PS50294	.	.	ENSP00000408108	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000414423	Transcript	.	.	ENSG00000162923	21208	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR26_HUMAN	WDR26	HGNC	C9JCS7_HUMAN	.	UPI0000203FB7	SNV	WDR26,synonymous_variant,p.%3D,ENST00000414423,;WDR26,synonymous_variant,p.%3D,ENST00000480676,;WDR26,synonymous_variant,p.%3D,ENST00000295024,;WDR26,3_prime_UTR_variant,,ENST00000366852,;MIR4742,upstream_gene_variant,,ENST00000581069,;WDR26,non_coding_transcript_exon_variant,,ENST00000479727,;WDR26,3_prime_UTR_variant,,ENST00000486652,;	1763	412	458	SUCCESS
TSNAX	7257	.	GRCh37	1	231664533	231664533	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs770804364	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	7	79	0	ENST00000366639.4:c.-24C>T		p.*8*	ENST00000366639	NM_005999.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1596.1	.	MUTECT|MUSE	.	CCGCTCGTCTC	NONE	.	.	.	.	.	ENSP00000355599	.	1/6	.	.	.	.	.	.	.	.	rs770804364	1/6	PASS	ENST00000366639	Transcript	.	.	ENSG00000116918	12380	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSNAX_HUMAN	TSNAX	HGNC	Q9NRI2_HUMAN	.	UPI0000137768	SNV	TSNAX,5_prime_UTR_variant,,ENST00000366639,;TSNAX,5_prime_UTR_variant,,ENST00000413309,;RP11-295G20.2,upstream_gene_variant,,ENST00000425412,;RP11-295G20.2,upstream_gene_variant,,ENST00000450783,;RP11-295G20.2,upstream_gene_variant,,ENST00000440665,;RP11-295G20.2,upstream_gene_variant,,ENST00000454631,;RP11-295G20.2,upstream_gene_variant,,ENST00000416221,;TSNAX,non_coding_transcript_exon_variant,,ENST00000602825,;TSNAX-DISC1,5_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,5_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,5_prime_UTR_variant,,ENST00000602885,;TSNAX-DISC1,5_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,5_prime_UTR_variant,,ENST00000602567,;TSNAX,upstream_gene_variant,,ENST00000476913,;	135	79	90	SUCCESS
COL16A1	1307	.	GRCh37	1	32157042	32157042	+	synonymous_variant	Silent	SNP	A	A	G	rs1417261811	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	44	183	0	ENST00000373672.3:c.1374T>C	p.Pro458=	p.P458=	ENST00000373672	NM_001856.3	458	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS41297.1	1374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCAGGGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372	.	.	ENSP00000362776	.	19/71	.	.	.	.	.	.	.	.	rs767631906	19/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,synonymous_variant,p.%3D,ENST00000373672,;COL16A1,synonymous_variant,p.%3D,ENST00000373667,;COL16A1,synonymous_variant,p.%3D,ENST00000373668,;COL16A1,synonymous_variant,p.%3D,ENST00000271069,;COL16A1,upstream_gene_variant,,ENST00000482478,;COL16A1,upstream_gene_variant,,ENST00000529928,;COL16A1,upstream_gene_variant,,ENST00000474000,;	1891	183	133	SUCCESS
LRRC47	57470	.	GRCh37	1	3712675	3712675	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	61	0	ENST00000378251.1:c.366C>A	p.Pro122=	p.P122=	ENST00000378251	NM_020710.2	122	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS51.1	366	MUTECT|MUSE	.	TCGGCGGGGCC	NONE	.	.	hmmpanther:PTHR10947:SF2,hmmpanther:PTHR10947,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	.	.	ENSP00000367498	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000378251	Transcript	.	.	ENSG00000130764	29207	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRC47_HUMAN	LRRC47	HGNC	.	.	UPI000006DEDC	SNV	LRRC47,synonymous_variant,p.%3D,ENST00000378251,;	394	61	59	SUCCESS
PLK3	1263	.	GRCh37	1	45266825	45266825	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	4	132	1	ENST00000372201.4:c.435+1G>T		p.X145_splice	ENST00000372201	NM_004073.2	145		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS515.1	.	MUTECT|MUSE	.	GAAAGGTGAAA	NONE	.	.	.	.	.	ENSP00000361275	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372201	Transcript	.	.	ENSG00000173846	2154	.	.	HIGH	3/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLK3_HUMAN	PLK3	HGNC	.	.	UPI000013ED1D	SNV	PLK3,splice_donor_variant,,ENST00000372201,;TCTEX1D4,downstream_gene_variant,,ENST00000372200,;TCTEX1D4,downstream_gene_variant,,ENST00000339355,;PLK3,splice_donor_variant,,ENST00000465443,;PLK3,upstream_gene_variant,,ENST00000476731,;PLK3,upstream_gene_variant,,ENST00000493100,;PLK3,upstream_gene_variant,,ENST00000492398,;PLK3,upstream_gene_variant,,ENST00000461769,;PLK3,upstream_gene_variant,,ENST00000461358,;	.	133	112	SUCCESS
IFI44L	10964	.	GRCh37	1	79107135	79107135	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	5	92	0	ENST00000370751.5:c.1165A>G	p.Lys389Glu	p.K389E	ENST00000370751	NM_006820.2	389	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS687.2	1165	MUTECT|MUSE	.	TCCATAAAATG	NONE	.	.	hmmpanther:PTHR14241,hmmpanther:PTHR14241:SF2	.	.	ENSP00000359787	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000370751	Transcript	.	.	ENSG00000137959	17817	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.168)	.	tolerated(0.12)	.	IF44L_HUMAN	IFI44L	HGNC	C9JPJ0_HUMAN,B4E019_HUMAN	.	UPI0000374C64	SNV	IFI44L,missense_variant,p.Lys131Glu,ENST00000342282,;IFI44L,missense_variant,p.Lys389Glu,ENST00000370751,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476876,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476521,;IFI44L,downstream_gene_variant,,ENST00000459784,;IFI44L,non_coding_transcript_exon_variant,,ENST00000494910,;IFI44L,non_coding_transcript_exon_variant,,ENST00000486882,;	1344	92	103	SUCCESS
PANK2	80025	.	GRCh37	20	3897669	3897669	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	23	154	0	ENST00000316562.4:c.1508C>T	p.Ser503Leu	p.S503L	ENST00000316562	NM_153638.2	503	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS13071.2	1508	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCAATAG	NONE	.	.	hmmpanther:PTHR12280:SF25,hmmpanther:PTHR12280,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067	.	.	ENSP00000313377	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000316562	Transcript	1	.	ENSG00000125779	15894	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0.03)	.	PANK2_HUMAN	PANK2	HGNC	Q52M85_HUMAN,D3DVZ1_HUMAN,A4FU43_HUMAN	.	UPI000036701A	SNV	PANK2,missense_variant,p.Ser212Leu,ENST00000497424,;PANK2,missense_variant,p.Ser380Leu,ENST00000610179,;PANK2,missense_variant,p.Ser67Leu,ENST00000495692,;PANK2,missense_variant,p.Ser503Leu,ENST00000316562,;MIR103A2,upstream_gene_variant,,ENST00000362154,;PANK2,non_coding_transcript_exon_variant,,ENST00000464452,;PANK2,3_prime_UTR_variant,,ENST00000336066,;	1514	154	123	SUCCESS
TCFL5	10732	.	GRCh37	20	61491546	61491546	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	154	0	ENST00000335351.3:c.762A>G	p.Gln254=	p.Q254=	ENST00000335351	NM_006602.2	254	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS13506.1	762	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAATTGCAA	NONE	.	.	hmmpanther:PTHR15402,hmmpanther:PTHR15402:SF2	.	.	ENSP00000334294	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000335351	Transcript	.	.	ENSG00000101190	11646	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCFL5_HUMAN	TCFL5	HGNC	.	.	UPI0000206389	SNV	TCFL5,synonymous_variant,p.%3D,ENST00000217162,;TCFL5,synonymous_variant,p.%3D,ENST00000335351,;	855	154	123	SUCCESS
PRAME	23532	.	GRCh37	22	22892709	22892709	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	92	0	ENST00000398741.1:c.392A>G	p.Asp131Gly	p.D131G	ENST00000398741	NM_206955.1	131	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS13801.1	392	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGTCCTGA	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	.	.	ENSP00000445675	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000543184	Transcript	.	.	ENSG00000185686	9336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.373)	.	deleterious(0.03)	.	PRAME_HUMAN	PRAME	HGNC	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN	.	UPI0000000DDA	SNV	PRAME,missense_variant,p.Asp131Gly,ENST00000398743,;PRAME,missense_variant,p.Asp131Gly,ENST00000420709,;PRAME,missense_variant,p.Asp155Gly,ENST00000438888,;PRAME,missense_variant,p.Asp131Gly,ENST00000398741,;PRAME,missense_variant,p.Asp131Gly,ENST00000402697,;PRAME,missense_variant,p.Asp131Gly,ENST00000439106,;PRAME,missense_variant,p.Asp131Gly,ENST00000543184,;PRAME,missense_variant,p.Asp115Gly,ENST00000539862,;PRAME,missense_variant,p.Asp115Gly,ENST00000424204,;PRAME,missense_variant,p.Asp131Gly,ENST00000405655,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,non_coding_transcript_exon_variant,,ENST00000476336,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	1255	92	84	SUCCESS
AP1B1	162	.	GRCh37	22	29727788	29727788	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	128	0	ENST00000405198.1:c.2427G>C	p.Leu809=	p.L809=	ENST00000405198		809	ctG/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS13855.1	2427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTCAGAGG	NONE	.	.	hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF12,Gene3D:2g30A01,Pfam_domain:PF02883,SMART_domains:SM00809,Superfamily_domains:SSF49348	.	.	ENSP00000350199	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000357586	Transcript	.	.	ENSG00000100280	554	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1B1_HUMAN	AP1B1	HGNC	C9J1E7_HUMAN	.	UPI000013CED0	SNV	AP1B1,synonymous_variant,p.%3D,ENST00000356015,;AP1B1,synonymous_variant,p.%3D,ENST00000402502,;AP1B1,synonymous_variant,p.%3D,ENST00000357586,;AP1B1,synonymous_variant,p.%3D,ENST00000405198,;AP1B1,synonymous_variant,p.%3D,ENST00000432560,;AP1B1,synonymous_variant,p.%3D,ENST00000415447,;AP1B1,synonymous_variant,p.%3D,ENST00000317368,;SNORD125,downstream_gene_variant,,ENST00000459538,;AP1B1,non_coding_transcript_exon_variant,,ENST00000472057,;AP1B1,non_coding_transcript_exon_variant,,ENST00000482818,;	2614	128	86	SUCCESS
SYN3	8224	.	GRCh37	22	32909790	32909790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	3	52	0	ENST00000358763.2:c.1632C>A	p.Asn544Lys	p.N544K	ENST00000358763	NM_001135774.1	544	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS13908.1	1632	MUTECT|MUSE	.	AGGCTGTTAGT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10841	.	.	ENSP00000351614	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000358763	Transcript	.	.	ENSG00000185666	11496	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SYN3_HUMAN	SYN3	HGNC	Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN	.	UPI00001365D3	SNV	SYN3,missense_variant,p.Asn544Lys,ENST00000358763,;SYN3,missense_variant,p.Asn544Lys,ENST00000332840,;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,downstream_gene_variant,,ENST00000459990,;SYN3,downstream_gene_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,downstream_gene_variant,,ENST00000461446,;	1875	52	67	SUCCESS
TTN	7273	.	GRCh37	2	179433556	179433556	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs572569285	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	9	69	0	ENST00000591111.1:c.72380T>G	p.Leu24127Arg	p.L24127R	ENST00000591111		24127	cTt/cGt	0	.	G:0	.	G:0	.	C	L/R	protein_coding	YES	CCDS59435.1	77303	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAAGATAT	NONE	by1000G	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	G:0	.	ENSP00000467141	G:0	326/363	.	.	.	.	.	.	.	.	rs572569285	326/363	PASS	ENST00000589042	Transcript	.	G:0.0002	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	.	G:0.001	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Leu16828Arg,ENST00000359218,;TTN,missense_variant,p.Leu24127Arg,ENST00000591111,;TTN,missense_variant,p.Leu25768Arg,ENST00000589042,;TTN,missense_variant,p.Leu16895Arg,ENST00000342175,;TTN,missense_variant,p.Leu23200Arg,ENST00000342992,;TTN,missense_variant,p.Leu16703Arg,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	77528	69	96	SUCCESS
B3GNT7	93010	.	GRCh37	2	232262492	232262492	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	58	0	ENST00000287590.5:c.62C>T	p.Ala21Val	p.A21V	ENST00000287590	NM_145236.2	21	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS46540.1	62	MUTECT|MUSE	.	CGTGGCCGTGA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000287590	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000287590	Transcript	.	.	ENSG00000156966	18811	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.219)	.	deleterious(0.02)	.	B3GN7_HUMAN	B3GNT7	HGNC	.	.	UPI000006D18A	SNV	B3GNT7,missense_variant,p.Ala21Val,ENST00000287590,;AC017104.6,downstream_gene_variant,,ENST00000415129,;AC017104.6,downstream_gene_variant,,ENST00000454416,;B3GNT7,non_coding_transcript_exon_variant,,ENST00000479618,;AC017104.6,downstream_gene_variant,,ENST00000418050,;	323	58	43	SUCCESS
ALPPL2	0	.	GRCh37	2	233274402	233274402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	129	8	180	0	ENST00000295453.3:c.1419G>T	p.Glu473Asp	p.E473D	ENST00000295453	NM_031313.2	473	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS2491.1	1419	MUTECT|MUSE	.	CAGGAGCAGAC	NONE	.	.	hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	.	.	ENSP00000295453	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000295453	Transcript	.	.	ENSG00000163286	441	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.731)	.	deleterious(0.01)	.	PPBN_HUMAN	ALPPL2	HGNC	.	.	UPI000013E259	SNV	ALPPL2,missense_variant,p.Glu473Asp,ENST00000295453,;	1471	180	137	SUCCESS
TRA2B	6434	.	GRCh37	3	185644397	185644397	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	81	0	ENST00000453386.2:c.162T>A	p.Ser54=	p.S54=	ENST00000453386	NM_004593.2	54	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS33905.1	162	MUTECT|MUSE|VARSCANS	.	GATTCAGATCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15241:SF1,hmmpanther:PTHR15241	.	.	ENSP00000416959	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000453386	Transcript	.	.	ENSG00000136527	10781	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRA2B_HUMAN	TRA2B	HGNC	.	.	UPI00000040A0	SNV	TRA2B,synonymous_variant,p.%3D,ENST00000453386,;TRA2B,intron_variant,,ENST00000382191,;TRA2B,upstream_gene_variant,,ENST00000259043,;TRA2B,upstream_gene_variant,,ENST00000414862,;TRA2B,intron_variant,,ENST00000465245,;TRA2B,downstream_gene_variant,,ENST00000471134,;TRA2B,3_prime_UTR_variant,,ENST00000456380,;TRA2B,non_coding_transcript_exon_variant,,ENST00000477939,;TRA2B,non_coding_transcript_exon_variant,,ENST00000487615,;TRA2B,non_coding_transcript_exon_variant,,ENST00000485530,;TRA2B,non_coding_transcript_exon_variant,,ENST00000493864,;TRA2B,non_coding_transcript_exon_variant,,ENST00000492417,;TRA2B,upstream_gene_variant,,ENST00000463328,;TRA2B,downstream_gene_variant,,ENST00000480461,;TRA2B,upstream_gene_variant,,ENST00000466832,;	438	81	80	SUCCESS
BRPF1	7862	.	GRCh37	3	9781391	9781391	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	9	163	0	ENST00000457855.1:c.1308C>G	p.Phe436Leu	p.F436L	ENST00000457855		436	ttC/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS33692.1	1308	MUTECT|MUSE	.	TCTTTCAGTGT	NONE	.	.	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF13832,SMART_domains:SM00249	.	.	ENSP00000373340	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.979)	.	deleterious(0.02)	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,missense_variant,p.Phe436Leu,ENST00000433861,;BRPF1,missense_variant,p.Phe436Leu,ENST00000457855,;BRPF1,missense_variant,p.Phe436Leu,ENST00000383829,;BRPF1,missense_variant,p.Phe436Leu,ENST00000302054,;BRPF1,missense_variant,p.Phe436Leu,ENST00000424362,;BRPF1,upstream_gene_variant,,ENST00000469066,;	1712	163	161	SUCCESS
AMBN	258	.	GRCh37	4	71467282	71467282	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	6	103	0	ENST00000322937.6:c.442A>G	p.Ile148Val	p.I148V	ENST00000322937	NM_016519.5	148	Att/Gtt	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3543.1	442	MUTECT|MUSE	.	CTCCAATTCAC	NONE	.	.	SMART_domains:SM00817,Pfam_domain:PF05111,hmmpanther:PTHR14115:SF0,hmmpanther:PTHR14115	.	.	ENSP00000313809	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000322937	Transcript	1	.	ENSG00000178522	452	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.011)	.	tolerated(0.78)	.	AMBN_HUMAN	AMBN	HGNC	Q546D7_HUMAN	.	UPI000000DCCB	SNV	AMBN,missense_variant,p.Ile133Val,ENST00000449493,;AMBN,missense_variant,p.Ile148Val,ENST00000322937,;	545	103	98	SUCCESS
PPM1K	152926	.	GRCh37	4	89198246	89198246	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	83	224	0	ENST00000608933.1:c.541+49G>A		p.*181*	ENST00000608933	NM_152542.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3629.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCCACCC	NONE	.	.	.	.	.	ENSP00000477341	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000608933	Transcript	1	.	ENSG00000163644	25415	.	.	MODIFIER	3/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PPM1K	HGNC	.	.	UPI00000473F1	SNV	PPM1K,3_prime_UTR_variant,,ENST00000514204,;PPM1K,intron_variant,,ENST00000608933,;PPM1K,intron_variant,,ENST00000510548,;PPM1K,intron_variant,,ENST00000295908,;PPM1K,intron_variant,,ENST00000508256,;PPM1K,intron_variant,,ENST00000315194,;PPM1K,downstream_gene_variant,,ENST00000505022,;PPM1K,downstream_gene_variant,,ENST00000509340,;RNU6-112P,upstream_gene_variant,,ENST00000363599,;PPM1K,intron_variant,,ENST00000506423,;PPM1K,non_coding_transcript_exon_variant,,ENST00000513546,;PPM1K,intron_variant,,ENST00000511506,;	.	224	249	SUCCESS
FBN2	2201	.	GRCh37	5	127625583	127625583	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1188110315	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	742	18	647	0	ENST00000262464.4:c.6502A>G	p.Thr2168Ala	p.T2168A	ENST00000262464	NM_001999.3	2168	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS34222.1	6502	MUTECT|MUSE	.	ACGTGTATCAT	NONE	.	.	PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19	.	.	ENSP00000424571	.	57/71	.	.	.	.	.	.	.	.	.	57/71	PASS	ENST00000508053	Transcript	1	.	ENSG00000138829	3604	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated(0.19)	.	FBN2_HUMAN	FBN2	HGNC	.	.	UPI0000519468	SNV	FBN2,missense_variant,p.Thr2168Ala,ENST00000262464,;FBN2,missense_variant,p.Thr2168Ala,ENST00000508053,;	7477	647	760	SUCCESS
VDAC1	7416	.	GRCh37	5	133316637	133316637	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	22	150	0	ENST00000265333.3:c.334G>C	p.Ala112Pro	p.A112P	ENST00000265333	NM_003374.2	112	Gct/Cct	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS4168.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGCATTTT	NONE	.	.	hmmpanther:PTHR11743:SF13,hmmpanther:PTHR11743,Pfam_domain:PF01459,Gene3D:2.40.160.10	.	.	ENSP00000265333	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000265333	Transcript	.	.	ENSG00000213585	12669	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.884)	.	deleterious(0.01)	.	VDAC1_HUMAN	VDAC1	HGNC	C9JI87_HUMAN	.	UPI000004C7D8	SNV	VDAC1,missense_variant,p.Ala112Pro,ENST00000265333,;VDAC1,missense_variant,p.Ala112Pro,ENST00000395047,;VDAC1,missense_variant,p.Ala112Pro,ENST00000395044,;VDAC1,missense_variant,p.Ala112Pro,ENST00000425992,;VDAC1,non_coding_transcript_exon_variant,,ENST00000492324,;VDAC1,upstream_gene_variant,,ENST00000489906,;	579	151	143	SUCCESS
ANKHD1	54882	.	GRCh37	5	139907597	139907597	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	312	9	291	0	ENST00000360839.2:c.5227A>T	p.Ile1743Phe	p.I1743F	ENST00000360839	NM_017747.2	1743	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS4224.1	5227	MUTECT|MUSE	.	GAATGATCACA	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR23206,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000297183	.	28/36	.	.	.	.	.	.	.	.	.	28/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.997)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Ile194Phe,ENST00000432301,;ANKHD1,missense_variant,p.Ile234Phe,ENST00000435794,;ANKHD1,missense_variant,p.Ile1743Phe,ENST00000360839,;ANKHD1,missense_variant,p.Ile126Phe,ENST00000544120,;ANKHD1,missense_variant,p.Ile1743Phe,ENST00000297183,;ANKHD1,missense_variant,p.Ile265Phe,ENST00000433049,;ANKHD1,missense_variant,p.Ile399Phe,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Ile1743Phe,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000412116,;ANKHD1,downstream_gene_variant,,ENST00000421134,;ANKHD1,downstream_gene_variant,,ENST00000246149,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000437495,;SNORD45,upstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000474060,;ANKHD1,upstream_gene_variant,,ENST00000475148,;	5351	291	322	SUCCESS
ABLIM3	22885	.	GRCh37	5	148617156	148617156	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	10	100	0	ENST00000309868.7:c.1034G>A	p.Gly345Asp	p.G345D	ENST00000309868	NM_014945.2	345	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4294.1	1034	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGCTATG	NONE	.	.	hmmpanther:PTHR24213:SF0,hmmpanther:PTHR24213	.	.	ENSP00000425394	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000506113	Transcript	.	.	ENSG00000173210	29132	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.027)	.	deleterious(0.01)	.	ABLM3_HUMAN	ABLIM3	HGNC	.	.	UPI0000071FF7	SNV	ABLIM3,missense_variant,p.Gly345Asp,ENST00000309868,;ABLIM3,missense_variant,p.Gly345Asp,ENST00000506113,;ABLIM3,missense_variant,p.Gly345Asp,ENST00000508983,;ABLIM3,intron_variant,,ENST00000356541,;ABLIM3,intron_variant,,ENST00000504238,;ABLIM3,intron_variant,,ENST00000326685,;AC012613.2,intron_variant,,ENST00000523176,;RP11-331K21.1,intron_variant,,ENST00000512647,;RP11-331K21.1,intron_variant,,ENST00000522685,;ABLIM3,non_coding_transcript_exon_variant,,ENST00000519549,;ABLIM3,non_coding_transcript_exon_variant,,ENST00000514212,;ABLIM3,intron_variant,,ENST00000515171,;	1516	100	100	SUCCESS
ARSB	411	.	GRCh37	5	78281247	78281247	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	11	0	ENST00000264914.4:c.-176C>T		p.*59*	ENST00000264914	NM_000046.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4043.1	.	MUTECT|MUSE	.	CCCCCGGCTGC	NONE	.	.	.	.	.	ENSP00000264914	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000264914	Transcript	1	.	ENSG00000113273	714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARSB_HUMAN	ARSB	HGNC	E5RHC4_HUMAN	.	UPI00001260A3	SNV	ARSB,5_prime_UTR_variant,,ENST00000264914,;ARSB,5_prime_UTR_variant,,ENST00000521117,;ARSB,5_prime_UTR_variant,,ENST00000396151,;ARSB,5_prime_UTR_variant,,ENST00000565165,;	362	11	13	SUCCESS
AMD1	262	.	GRCh37	6	111196314	111196314	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	9	43	0	ENST00000368885.3:c.6A>G	p.Glu2=	p.E2=	ENST00000368885	NM_001634.4	2	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS5086.1	6	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAGCTGC	NONE	.	.	PIRSF_domain:PIRSF001355,hmmpanther:PTHR11570	.	.	ENSP00000357880	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000368885	Transcript	.	.	ENSG00000123505	457	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCAM_HUMAN	AMD1	HGNC	Q5VXN5_HUMAN	.	UPI0000140D27	SNV	AMD1,synonymous_variant,p.%3D,ENST00000451850,;AMD1,synonymous_variant,p.%3D,ENST00000368877,;AMD1,synonymous_variant,p.%3D,ENST00000368885,;AMD1,5_prime_UTR_variant,,ENST00000368882,;AMD1,upstream_gene_variant,,ENST00000368876,;	342	43	58	SUCCESS
MED23	9439	.	GRCh37	6	131941772	131941772	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs759582160	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	31	232	0	ENST00000368068.3:c.593A>G	p.His198Arg	p.H198R	ENST00000368068	NM_004830.3	198	cAc/cGc	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS5147.1	593	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTGTGGA	NONE	.	.	hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10,Pfam_domain:PF11573	.	.	ENSP00000357047	.	7/29	.	.	.	.	.	.	.	.	rs759582160	7/29	PASS	ENST00000368068	Transcript	.	.	ENSG00000112282	2372	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.969)	.	deleterious(0.04)	.	MED23_HUMAN	MED23	HGNC	B9TX51_HUMAN	.	UPI000012855F	SNV	MED23,missense_variant,p.His198Arg,ENST00000368068,;MED23,missense_variant,p.His198Arg,ENST00000354577,;MED23,missense_variant,p.His198Arg,ENST00000539158,;MED23,missense_variant,p.His198Arg,ENST00000368058,;MED23,missense_variant,p.His198Arg,ENST00000403834,;MED23,missense_variant,p.His198Arg,ENST00000368060,;MED23,missense_variant,p.His198Arg,ENST00000540546,;MED23,missense_variant,p.His198Arg,ENST00000368053,;	773	232	230	SUCCESS
SERAC1	84947	.	GRCh37	6	158571489	158571489	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	50	0	ENST00000367104.3:c.261T>G	p.Asn87Lys	p.N87K	ENST00000367104	NM_032861.3	87	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS5255.1	261	MUTECT|MUSE	.	CCATGATTTTC	NONE	.	.	hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF4	.	.	ENSP00000356071	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000367104	Transcript	.	.	ENSG00000122335	21061	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.034)	.	tolerated(0.26)	.	SRAC1_HUMAN	SERAC1	HGNC	.	.	UPI0000070959	SNV	SERAC1,missense_variant,p.Asn87Lys,ENST00000367104,;SERAC1,missense_variant,p.Asn87Lys,ENST00000367101,;SERAC1,missense_variant,p.Asn87Lys,ENST00000607000,;SERAC1,missense_variant,p.Asn87Lys,ENST00000367102,;SERAC1,missense_variant,p.Asn87Lys,ENST00000606965,;SERAC1,3_prime_UTR_variant,,ENST00000607071,;SERAC1,3_prime_UTR_variant,,ENST00000607742,;	393	50	48	SUCCESS
ZNF318	24149	.	GRCh37	6	43305119	43305119	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1305153427	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	8	91	0	ENST00000361428.2:c.6617G>A	p.Gly2206Glu	p.G2206E	ENST00000361428	NM_014345.2	2206	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS4895.2	6617	MUTECT|MUSE|VARSCANS	.	ATGGCCCCAAC	NONE	.	.	hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.117)	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	SNV	ZNF318,missense_variant,p.Gly2206Glu,ENST00000361428,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000605935,;	6695	91	85	SUCCESS
XPO5	57510	.	GRCh37	6	43499278	43499278	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	158	6	189	0	ENST00000265351.7:c.2479C>T	p.Pro827Ser	p.P827S	ENST00000265351	NM_020750.2	827	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47430.1	2479	MUTECT|MUSE	.	GACAGGAGAGT	NONE	.	.	hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Superfamily_domains:SSF48371	.	.	ENSP00000265351	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000265351	Transcript	.	.	ENSG00000124571	17675	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.786)	.	deleterious(0.01)	.	XPO5_HUMAN	XPO5	HGNC	E2QRM3_HUMAN	.	UPI000006CC97	SNV	XPO5,missense_variant,p.Pro827Ser,ENST00000265351,;XPO5,upstream_gene_variant,,ENST00000455285,;POLR1C,downstream_gene_variant,,ENST00000304004,;XPO5,3_prime_UTR_variant,,ENST00000398835,;XPO5,upstream_gene_variant,,ENST00000450462,;XPO5,upstream_gene_variant,,ENST00000486936,;XPO5,upstream_gene_variant,,ENST00000488195,;XPO5,upstream_gene_variant,,ENST00000455854,;XPO5,downstream_gene_variant,,ENST00000515657,;	2690	189	165	SUCCESS
TXNDC5	81567	.	GRCh37	6	7899894	7899894	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs866550615	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	63	0	ENST00000379757.4:c.434G>T	p.Gly145Val	p.G145V	ENST00000379757	NM_030810.3	145	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4505.1	434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGCCTGGC	NONE	.	.	Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF00085,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF52,PROSITE_profiles:PS51352	.	.	ENSP00000369081	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000379757	Transcript	.	.	ENSG00000239264	21073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	TXND5_HUMAN	TXNDC5	HGNC	Q6EHZ3_HUMAN,Q658S9_HUMAN	.	UPI0000048EC3	SNV	TXNDC5,missense_variant,p.Gly73Val,ENST00000539054,;TXNDC5,missense_variant,p.Gly145Val,ENST00000379757,;TXNDC5,missense_variant,p.Gly37Val,ENST00000473453,;BLOC1S5-TXNDC5,3_prime_UTR_variant,,ENST00000439343,;TXNDC5,non_coding_transcript_exon_variant,,ENST00000469459,;	472	63	73	SUCCESS
AKR1B1	231	.	GRCh37	7	134136358	134136358	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	49	0	ENST00000285930.4:c.214G>T	p.Glu72Ter	p.E72*	ENST00000285930	NM_001628.2	72	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5831.1	214	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCTCCTCAC	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF189,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	.	.	ENSP00000285930	.	2/10	.	.	.	.	.	.	.	.	COSM452380	2/10	PASS	ENST00000285930	Transcript	.	.	ENSG00000085662	381	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ALDR_HUMAN	AKR1B1	HGNC	O15289_HUMAN	.	UPI000000D78E	SNV	AKR1B1,stop_gained,p.Glu72Ter,ENST00000285930,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000487438,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000497983,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000489022,;AKR1B1,stop_gained,p.Glu72Ter,ENST00000434222,;AKR1B1,stop_gained,p.Glu72Ter,ENST00000426422,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000465351,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000498771,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000491741,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000462784,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000467829,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000484592,;AKR1B1,upstream_gene_variant,,ENST00000467251,;AKR1B1,upstream_gene_variant,,ENST00000498373,;	294	49	103	SUCCESS
HOXA7	3204	.	GRCh37	7	27196255	27196255	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	69	0	ENST00000242159.3:c.-91G>A		p.*31*	ENST00000242159	NM_006896.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5408.1	.	MUTECT|MUSE	.	ATTTACACCAA	NONE	.	.	.	.	.	ENSP00000242159	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000242159	Transcript	.	.	ENSG00000122592	5108	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXA7_HUMAN	HOXA7	HGNC	E5RHM9_HUMAN	.	UPI000013CAF3	SNV	HOXA7,5_prime_UTR_variant,,ENST00000242159,;HOXA7,5_prime_UTR_variant,,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;HOXA7,upstream_gene_variant,,ENST00000523796,;HOXA3,upstream_gene_variant,,ENST00000518451,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;	44	69	64	SUCCESS
CREB5	9586	.	GRCh37	7	28547252	28547252	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762102181	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	95	0	ENST00000357727.2:c.188C>T	p.Thr63Met	p.T63M	ENST00000357727	NM_182898.2	63	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS5417.1	188	MUTECT|MUSE|VARSCANS	.	CCCAACGAGAT	NONE	byFrequency	.	hmmpanther:PTHR19304:SF8,hmmpanther:PTHR19304,PIRSF_domain:PIRSF003153	.	.	ENSP00000350359	.	4/11	.	.	.	.	.	.	.	.	rs762102181	4/11	PASS	ENST00000357727	Transcript	.	.	ENSG00000146592	16844	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	CREB5_HUMAN	CREB5	HGNC	H9KVC5_HUMAN,C9JN33_HUMAN	.	UPI0000457534	SNV	CREB5,missense_variant,p.Thr56Met,ENST00000424599,;CREB5,missense_variant,p.Thr30Met,ENST00000409603,;CREB5,missense_variant,p.Thr63Met,ENST00000357727,;CREB5,missense_variant,p.Thr30Met,ENST00000396299,;CREB5,missense_variant,p.Thr56Met,ENST00000396300,;CREB5,non_coding_transcript_exon_variant,,ENST00000469531,;	578	95	140	SUCCESS
RP11-3N2.13	0	.	GRCh37	7	63537704	63537704	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs375815259	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	16	138	0	ENST00000456806.1:n.259G>T		p.*87*	ENST00000456806		93		0	A:0	.	.	.	.	T	D/Y	protein_coding	YES	CCDS55113.1	277	RADIA|MUTECT|MUSE|VARSCANS	.	TAAACGATTCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79	.	A:0.0003	ENSP00000447987	.	4/4	.	.	.	.	.	.	.	.	rs375815259	4/4	PASS	ENST00000550760	Transcript	.	.	ENSG00000257482	22785	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.995)	.	deleterious(0.04)	.	ZN727_HUMAN	ZNF727	HGNC	.	.	UPI0001A23134	SNV	ZNF727,missense_variant,p.Asp93Tyr,ENST00000550760,;RP11-3N2.13,non_coding_transcript_exon_variant,,ENST00000445978,;RP11-3N2.13,non_coding_transcript_exon_variant,,ENST00000456806,;RP11-3N2.13,upstream_gene_variant,,ENST00000430271,;	456	138	164	SUCCESS
MTMR9	66036	.	GRCh37	8	11177357	11177357	+	intron_variant	Intron	SNP	G	G	T	rs749737827	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	3	49	0	ENST00000221086.3:c.1486+10G>T		p.*496*	ENST00000221086	NM_015458.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5979.1	.	MUTECT|MUSE	.	ACCACGCATCC	NONE	byFrequency	.	.	.	.	ENSP00000221086	.	.	.	.	.	.	.	.	.	.	rs749737827	.	PASS	ENST00000221086	Transcript	.	.	ENSG00000104643	14596	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTMR9_HUMAN	MTMR9	HGNC	Q9Y4N6_HUMAN,B7Z291_HUMAN	.	UPI0000073CA7	SNV	MTMR9,intron_variant,,ENST00000526292,;MTMR9,intron_variant,,ENST00000221086,;AF131216.6,non_coding_transcript_exon_variant,,ENST00000498997,;MTMR9,intron_variant,,ENST00000530200,;	.	49	64	SUCCESS
TRPS1	7227	.	GRCh37	8	116635869	116635869	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	54	0	ENST00000220888.5:c.-2-3582G>A		p.*1*	ENST00000220888				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6318.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGCTTTAG	NONE	.	.	.	.	.	ENSP00000379065	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000395715	Transcript	1	.	ENSG00000104447	12340	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRPS1_HUMAN	TRPS1	HGNC	F8W8T0_HUMAN,E7EVN4_HUMAN,C9J6L7_HUMAN	.	UPI00002104B8	SNV	TRPS1,5_prime_UTR_variant,,ENST00000395715,;TRPS1,5_prime_UTR_variant,,ENST00000451156,;TRPS1,5_prime_UTR_variant,,ENST00000422939,;TRPS1,5_prime_UTR_variant,,ENST00000519815,;TRPS1,5_prime_UTR_variant,,ENST00000395713,;TRPS1,intron_variant,,ENST00000520276,;TRPS1,intron_variant,,ENST00000519674,;TRPS1,intron_variant,,ENST00000220888,;TRPS1,intron_variant,,ENST00000517323,;TRPS1,upstream_gene_variant,,ENST00000519076,;	574	54	64	SUCCESS
FAM135B	51059	.	GRCh37	8	139144954	139144954	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	7	134	2	ENST00000395297.1:c.4103A>C	p.His1368Pro	p.H1368P	ENST00000395297	NM_015912.3	1368	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS6375.2	4103	MUTECT|MUSE	.	GGGCGTGGAAC	NONE	.	.	hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482	.	.	ENSP00000378710	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000395297	Transcript	.	.	ENSG00000147724	28029	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.616)	.	deleterious(0)	.	F135B_HUMAN	FAM135B	HGNC	J3QSR3_HUMAN	.	UPI000057A0DB	SNV	FAM135B,missense_variant,p.His1368Pro,ENST00000395297,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	4274	137	146	SUCCESS
TNFRSF10A	8797	.	GRCh37	8	23058224	23058224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	11	116	0	ENST00000221132.3:c.679A>G	p.Ile227Val	p.I227V	ENST00000221132	NM_003844.3	227	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS6039.1	679	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGATGTCAC	BUFFER|p.E228A|c.683A>C|3	.	.	PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF41,PROSITE_patterns:PS00652,Gene3D:2.10.50.10,Pfam_domain:PF00020,PIRSF_domain:PIRSF037867,SMART_domains:SM00208,Superfamily_domains:SSF57586	.	.	ENSP00000221132	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000221132	Transcript	.	.	ENSG00000104689	11904	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.345)	.	tolerated(0.09)	.	TR10A_HUMAN	TNFRSF10A	HGNC	E5RFH1_HUMAN	.	UPI000013C7A8	SNV	TNFRSF10A,missense_variant,p.Ile227Val,ENST00000221132,;TNFRSF10A,missense_variant,p.Ile25Val,ENST00000524158,;TNFRSF10A,upstream_gene_variant,,ENST00000519862,;	744	116	106	SUCCESS
WRN	7486	.	GRCh37	8	30974005	30974005	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	13	61	0	ENST00000298139.5:c.2409G>T	p.Arg803Ser	p.R803S	ENST00000298139	NM_000553.4	803	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS6082.1	2409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGGAAAGA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,TIGRFAM_domain:TIGR00614,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF80,PROSITE_profiles:PS51194	.	.	ENSP00000298139	.	20/35	.	.	.	.	.	.	.	.	COSM3942646	20/35	PASS	ENST00000298139	Transcript	1	.	ENSG00000165392	12791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	WRN_HUMAN	WRN	HGNC	.	.	UPI000013E49D	SNV	WRN,missense_variant,p.Arg803Ser,ENST00000298139,;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;WRN,upstream_gene_variant,,ENST00000520169,;	2658	61	77	SUCCESS
KAT6A	7994	.	GRCh37	8	41812897	41812897	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	83	0	ENST00000265713.2:c.1515A>G	p.Gln505=	p.Q505=	ENST00000265713	NM_006766.3	505	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS6124.1	1515	RADIA|MUTECT|MUSE|VARSCANS	.	CGGACTTGTGG	NONE	.	.	hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615	.	.	ENSP00000380136	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000396930	Transcript	1	.	ENSG00000083168	13013	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAT6A_HUMAN	KAT6A	HGNC	A5PKX7_HUMAN	.	UPI000013D666	SNV	KAT6A,synonymous_variant,p.%3D,ENST00000396930,;KAT6A,synonymous_variant,p.%3D,ENST00000406337,;KAT6A,synonymous_variant,p.%3D,ENST00000485568,;KAT6A,synonymous_variant,p.%3D,ENST00000265713,;KAT6A,synonymous_variant,p.%3D,ENST00000418721,;	2059	83	98	SUCCESS
PRKDC	5591	.	GRCh37	8	48776027	48776027	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	224	25	272	0	ENST00000314191.2:c.5680A>G	p.Lys1894Glu	p.K1894E	ENST00000314191	NM_006904.6	1894	Aaa/Gaa	0	.	.	.	.	.	C	K/E	protein_coding	YES	.	5680	RADIA|MUTECT|MUSE|VARSCANS	.	AATTTTTGATT	NONE	.	.	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF08163	.	.	ENSP00000313420	.	43/87	.	.	.	.	.	.	.	.	.	43/87	PASS	ENST00000314191	Transcript	1	.	ENSG00000253729	9413	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.029)	.	.	.	PRKDC_HUMAN	PRKDC	HGNC	F5GX40_HUMAN	.	UPI000045790C	SNV	PRKDC,missense_variant,p.Lys1894Glu,ENST00000338368,;PRKDC,missense_variant,p.Lys1894Glu,ENST00000314191,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000546304,;	5737	272	249	SUCCESS
DBH	1621	.	GRCh37	9	136501520	136501520	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	209	16	273	0	ENST00000393056.2:c.27C>T	p.Ser9=	p.S9=	ENST00000393056	NM_000787.3	9	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS6977.2	27	MUTECT|MUSE	.	GCCAGCCTGCC	NONE	.	.	.	.	.	ENSP00000376776	.	1/12	.	.	.	.	.	.	.	.	COSM1554169	1/12	PASS	ENST00000393056	Transcript	.	.	ENSG00000123454	2689	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	DOPO_HUMAN	DBH	HGNC	.	.	UPI0000E5D219	SNV	DBH,synonymous_variant,p.%3D,ENST00000393056,;DBH,5_prime_UTR_variant,,ENST00000263611,;LL09NC01-254D11.1,upstream_gene_variant,,ENST00000564021,;	39	273	225	SUCCESS
GPRASP2	114928	.	GRCh37	X	101971439	101971439	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	5	145	0	ENST00000332262.5:c.1642C>T	p.Gln548Ter	p.Q548*	ENST00000332262	NM_138437.5	548	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS14501.1	1642	MUTECT|MUSE	.	CTGATCAGCCT	NONE	.	.	hmmpanther:PTHR15712:SF10,hmmpanther:PTHR15712	.	.	ENSP00000437872	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000543253	Transcript	.	.	ENSG00000158301	25169	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GASP2_HUMAN	GPRASP2	HGNC	.	.	UPI000006F01A	SNV	GPRASP2,stop_gained,p.Gln548Ter,ENST00000332262,;GPRASP2,stop_gained,p.Gln548Ter,ENST00000535209,;GPRASP2,stop_gained,p.Gln548Ter,ENST00000543253,;BHLHB9,upstream_gene_variant,,ENST00000457056,;BHLHB9,upstream_gene_variant,,ENST00000361229,;RP4-769N13.6,downstream_gene_variant,,ENST00000486740,;RP4-769N13.6,downstream_gene_variant,,ENST00000602463,;BHLHB9,upstream_gene_variant,,ENST00000483294,;BHLHB9,upstream_gene_variant,,ENST00000486988,;RP4-769N13.6,downstream_gene_variant,,ENST00000602366,;GPRASP2,downstream_gene_variant,,ENST00000483720,;GPRASP2,downstream_gene_variant,,ENST00000486814,;	2561	145	136	SUCCESS
TENM1	10178	.	GRCh37	X	123663789	123663789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	5	112	0	ENST00000371130.3:c.2696C>A	p.Thr899Asn	p.T899N	ENST00000371130	NM_014253.3	899	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS55488.1	2696	MUTECT|MUSE	.	GAGGAGTTCCA	NONE	.	.	hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219	.	.	ENSP00000403954	.	16/32	.	.	.	.	.	.	.	.	.	16/32	PASS	ENST00000422452	Transcript	.	.	ENSG00000009694	8117	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.082)	.	deleterious(0)	.	TEN1_HUMAN	TENM1	HGNC	G3CAS6_HUMAN,B7ZMH4_HUMAN	.	UPI0000211B6A	SNV	TENM1,missense_variant,p.Thr899Asn,ENST00000422452,;TENM1,missense_variant,p.Thr899Asn,ENST00000371130,;	2760	112	130	SUCCESS
RAI2	10742	.	GRCh37	X	17819432	17819432	+	synonymous_variant	Silent	SNP	C	C	T	rs147393133	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	48	181	0	ENST00000331511.1:c.699G>A	p.Pro233=	p.P233=	ENST00000331511		233	ccG/ccA	0	T:0.0005	T:0	.	T:0	.	T	P	protein_coding	YES	CCDS14183.1	699	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATACGGCAC	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,Pfam_domain:PF15279,hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF3	T:0	T:0.0012	ENSP00000444210	T:0.001	3/3	.	.	.	.	.	.	.	.	rs147393133	3/3	common_in_exac	ENST00000545871	Transcript	.	T:0.0003	ENSG00000131831	9835	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RAI2_HUMAN	RAI2	HGNC	.	.	UPI000013CE19	SNV	RAI2,synonymous_variant,p.%3D,ENST00000331511,;RAI2,synonymous_variant,p.%3D,ENST00000360011,;RAI2,synonymous_variant,p.%3D,ENST00000451717,;RAI2,synonymous_variant,p.%3D,ENST00000415486,;RAI2,synonymous_variant,p.%3D,ENST00000545871,;RAI2,downstream_gene_variant,,ENST00000509491,;	1160	181	184	SUCCESS
NKX2-3	159296	.	GRCh37	10	101292773	101292773	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	26	0	ENST00000344586.7:c.-116G>T		p.*39*	ENST00000344586	NM_145285.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41558.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTGTCAAA	NONE	.	.	.	.	.	ENSP00000342828	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000344586	Transcript	.	.	ENSG00000119919	7836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NKX23_HUMAN	NKX2-3	HGNC	.	.	UPI00001301E8	SNV	NKX2-3,5_prime_UTR_variant,,ENST00000344586,;RP11-129J12.1,downstream_gene_variant,,ENST00000452494,;RP11-129J12.2,upstream_gene_variant,,ENST00000548010,;	84	26	37	SUCCESS
ZNF202	7753	.	GRCh37	11	123598282	123598282	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	53	0	ENST00000336139.4:c.854A>T	p.Asp285Val	p.D285V	ENST00000336139		285	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS8443.1	854	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATCAGGT	NONE	.	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194,PROSITE_profiles:PS50805	.	.	ENSP00000337724	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	deleterious(0.01)	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,missense_variant,p.Asp285Val,ENST00000529691,;ZNF202,missense_variant,p.Asp285Val,ENST00000336139,;ZNF202,missense_variant,p.Asp285Val,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	1217	53	55	SUCCESS
MUC5B	727897	.	GRCh37	11	1244296	1244296	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	129	0	ENST00000529681.1:c.-58A>G		p.*20*	ENST00000529681	NM_002458.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44515.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCACCCGG	NONE	.	.	.	.	.	ENSP00000436812	.	1/49	.	.	.	.	.	.	.	.	.	1/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,5_prime_UTR_variant,,ENST00000529681,;MUC5B,5_prime_UTR_variant,,ENST00000447027,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	1	129	86	SUCCESS
RPS13	6207	.	GRCh37	11	17099170	17099170	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1324934975	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	96	220	0	ENST00000525634.1:c.19C>T	p.Pro7Ser	p.P7S	ENST00000525634		7	Ccc/Tcc	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS7823.1	19	RADIA|MUTECT|MUSE	.	CCCGGGAGCAT	NONE	.	.	HAMAP:MF_01343_A,hmmpanther:PTHR11885,Pfam_domain:PF08069	.	.	ENSP00000435777	.	1/6	.	.	.	.	.	.	.	.	COSM1728978	1/6	PASS	ENST00000525634	Transcript	.	.	ENSG00000110700	10386	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.177)	.	tolerated(0.21)	1	RS13_HUMAN	RPS13	HGNC	.	.	UPI0000003EFE	SNV	RPS13,missense_variant,p.Pro7Ser,ENST00000533969,;RPS13,missense_variant,p.Pro7Ser,ENST00000525634,;RPS13,missense_variant,p.Pro7Ser,ENST00000228140,;AC116533.1,downstream_gene_variant,,ENST00000408395,;SNORD14A,upstream_gene_variant,,ENST00000606526,;SNORD14B,upstream_gene_variant,,ENST00000364533,;RPS13,non_coding_transcript_exon_variant,,ENST00000526895,;PIK3C2A,downstream_gene_variant,,ENST00000531428,;RPS13,non_coding_transcript_exon_variant,,ENST00000534329,;RPS13,non_coding_transcript_exon_variant,,ENST00000525828,;RPS13,non_coding_transcript_exon_variant,,ENST00000528074,;RPS13,non_coding_transcript_exon_variant,,ENST00000527571,;RPS13,upstream_gene_variant,,ENST00000531008,;RPS13,upstream_gene_variant,,ENST00000531908,;	165	220	204	SUCCESS
RIC8A	60626	.	GRCh37	11	209347	209347	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	35	86	1	ENST00000526104.1:c.132+29C>T		p.*44*	ENST00000526104	NM_001286134.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7690.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCAGGGA	NONE	.	.	.	.	.	ENSP00000325941	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000325207	Transcript	.	.	ENSG00000177963	29550	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIC8A_HUMAN	RIC8A	HGNC	E9PMP0_HUMAN	.	UPI0000037C19	SNV	RIC8A,stop_gained,p.Gln19Ter,ENST00000527696,;RIC8A,intron_variant,,ENST00000528357,;RIC8A,intron_variant,,ENST00000530889,;RIC8A,intron_variant,,ENST00000325207,;RIC8A,intron_variant,,ENST00000527468,;RIC8A,intron_variant,,ENST00000526104,;BET1L,upstream_gene_variant,,ENST00000529614,;BET1L,upstream_gene_variant,,ENST00000382762,;BET1L,upstream_gene_variant,,ENST00000332865,;RIC8A,upstream_gene_variant,,ENST00000524854,;RIC8A,upstream_gene_variant,,ENST00000527728,;BET1L,upstream_gene_variant,,ENST00000410108,;BET1L,upstream_gene_variant,,ENST00000486280,;RIC8A,upstream_gene_variant,,ENST00000529275,;BET1L,upstream_gene_variant,,ENST00000325147,;RP11-304M2.5,downstream_gene_variant,,ENST00000526963,;RIC8A,upstream_gene_variant,,ENST00000531541,;RIC8A,non_coding_transcript_exon_variant,,ENST00000532373,;RIC8A,intron_variant,,ENST00000526982,;RIC8A,upstream_gene_variant,,ENST00000526557,;BET1L,upstream_gene_variant,,ENST00000479463,;RIC8A,upstream_gene_variant,,ENST00000527039,;RIC8A,upstream_gene_variant,,ENST00000532241,;RIC8A,upstream_gene_variant,,ENST00000530149,;AC069287.1,upstream_gene_variant,,ENST00000433234,;	.	87	77	SUCCESS
FARP1	10160	.	GRCh37	13	98896955	98896956	+	intron_variant	Intron	INS	-	-	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	70	23	83	0	ENST00000319562.6:c.171+31294dup		p.*57*	ENST00000319562	NM_005766.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9487.1	.	VARSCANI*|PINDEL	.	TTAATCTTTTT	NONE	.	.	.	.	.	ENSP00000322926	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	6	.	MODIFIER	2/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	insertion	FARP1,frameshift_variant,p.Ter130Leu,ENST00000376581,;FARP1,intron_variant,,ENST00000319562,;FARP1,intron_variant,,ENST00000376586,;FARP1,intron_variant,,ENST00000595437,;FARP1,intron_variant,,ENST00000598389,;	.	83	93	SUCCESS
CHD8	57680	.	GRCh37	14	21854025	21854025	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1174920611	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	34	0	ENST00000399982.2:c.7493A>C	p.His2498Pro	p.H2498P	ENST00000399982	NM_001170629.1	2498	cAc/cCc	0	.	.	.	.	.	G	H/P	protein_coding	YES	CCDS53885.1	7493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGTGGTGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000382863	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000399982	Transcript	.	.	ENSG00000100888	20153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.227)	.	tolerated_low_confidence(0.19)	.	CHD8_HUMAN	CHD8	HGNC	.	.	UPI00002375B9	SNV	CHD8,missense_variant,p.His2498Pro,ENST00000557364,;CHD8,missense_variant,p.His2219Pro,ENST00000430710,;CHD8,missense_variant,p.His2498Pro,ENST00000399982,;SUPT16H,upstream_gene_variant,,ENST00000555943,;CHD8,downstream_gene_variant,,ENST00000553870,;SUPT16H,upstream_gene_variant,,ENST00000216297,;RP11-524O1.4,downstream_gene_variant,,ENST00000565098,;CHD8,non_coding_transcript_exon_variant,,ENST00000557727,;SUPT16H,upstream_gene_variant,,ENST00000557652,;SUPT16H,upstream_gene_variant,,ENST00000555752,;SUPT16H,upstream_gene_variant,,ENST00000556217,;SUPT16H,upstream_gene_variant,,ENST00000556309,;	7558	35	25	SUCCESS
SLC38A6	145389	.	GRCh37	14	61512090	61512090	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	4	79	0	ENST00000267488.4:c.771T>G	p.Ala257=	p.A257=	ENST00000267488	NM_153811.2	257	gcT/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS53900.1	771	MUTECT|MUSE	.	ATGGCTTTTTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF210,Pfam_domain:PF01490	.	.	ENSP00000346959	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000354886	Transcript	.	.	ENSG00000139974	19863	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S38A6_HUMAN	SLC38A6	HGNC	G3V3H5_HUMAN	.	UPI000049DDBA	SNV	SLC38A6,synonymous_variant,p.%3D,ENST00000451406,;SLC38A6,synonymous_variant,p.%3D,ENST00000456840,;SLC38A6,synonymous_variant,p.%3D,ENST00000354886,;SLC38A6,synonymous_variant,p.%3D,ENST00000267488,;SLC38A6,synonymous_variant,p.%3D,ENST00000533744,;SLC38A6,synonymous_variant,p.%3D,ENST00000529212,;SLC38A6,3_prime_UTR_variant,,ENST00000491344,;SLC38A6,3_prime_UTR_variant,,ENST00000525723,;SLC38A6,3_prime_UTR_variant,,ENST00000529345,;SLC38A6,3_prime_UTR_variant,,ENST00000527591,;SLC38A6,downstream_gene_variant,,ENST00000528350,;SLC38A6,upstream_gene_variant,,ENST00000526539,;	935	79	103	SUCCESS
ZNF267	10308	.	GRCh37	16	31896500	31896500	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs746100403	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	115	0	ENST00000300870.10:c.149C>T	p.Pro50Leu	p.P50L	ENST00000300870	NM_003414.5	50	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32440.1	149	MUTECT|MUSE	.	TAAGCCGGACC	NONE	byFrequency	.	Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377,PROSITE_profiles:PS50805	.	.	ENSP00000300870	.	3/4	.	.	.	.	.	.	.	.	rs746100403	3/4	PASS	ENST00000300870	Transcript	.	.	ENSG00000185947	13060	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	tolerated(0.21)	.	ZN267_HUMAN	ZNF267	HGNC	H3BPW2_HUMAN	.	UPI000045696F	SNV	ZNF267,missense_variant,p.Pro50Leu,ENST00000300870,;ZNF267,missense_variant,p.Pro50Leu,ENST00000394846,;ZNF267,missense_variant,p.Pro18Leu,ENST00000562971,;ZNF267,3_prime_UTR_variant,,ENST00000561814,;ZNF267,3_prime_UTR_variant,,ENST00000566541,;	358	115	92	SUCCESS
ZFP90	146198	.	GRCh37	16	68598406	68598406	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	46	142	0	ENST00000398253.2:c.1716G>C	p.Glu572Asp	p.E572D	ENST00000398253	NM_133458.2	572	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS42183.1	1716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGAGAGAAC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF143,PROSITE_profiles:PS50157	.	.	ENSP00000460547	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000570495	Transcript	.	.	ENSG00000184939	23329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.904)	.	deleterious(0.01)	.	ZFP90_HUMAN	ZFP90	HGNC	I3L3M0_HUMAN,I3L1L4_HUMAN,H3BVC6_HUMAN	.	UPI000004C096	SNV	ZFP90,missense_variant,p.Glu572Asp,ENST00000563169,;ZFP90,missense_variant,p.Glu572Asp,ENST00000398253,;ZFP90,missense_variant,p.Glu572Asp,ENST00000570495,;ZFP90,intron_variant,,ENST00000573113,;ZFP90,downstream_gene_variant,,ENST00000573685,;ZFP90,downstream_gene_variant,,ENST00000562156,;ZFP90,downstream_gene_variant,,ENST00000564323,;ZFP90,3_prime_UTR_variant,,ENST00000564558,;ZFP90,non_coding_transcript_exon_variant,,ENST00000571720,;ZFP90,downstream_gene_variant,,ENST00000571809,;ZFP90,downstream_gene_variant,,ENST00000576805,;ZFP90,downstream_gene_variant,,ENST00000569323,;	2008	142	119	SUCCESS
HP	3240	.	GRCh37	16	72094725	72094725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	46	127	1	ENST00000355906.5:c.1157A>G	p.Tyr386Cys	p.Y386C	ENST00000355906	NM_005143.3	386	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS45524.1	1157	RADIA|SOMATICSNIPER|VARSCANS	.	TGAGTATGGTG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF25,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000348170	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000355906	Transcript	.	.	ENSG00000257017	5141	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	HPT_HUMAN	HP	HGNC	Q6PEJ8_HUMAN	.	UPI000012CB71	SNV	HP,missense_variant,p.Tyr384Cys,ENST00000567185,;HP,missense_variant,p.Tyr327Cys,ENST00000398131,;HP,missense_variant,p.Tyr386Cys,ENST00000355906,;HP,missense_variant,p.Tyr422Cys,ENST00000357763,;HP,missense_variant,p.Tyr327Cys,ENST00000570083,;HP,missense_variant,p.Tyr327Cys,ENST00000565574,;HP,missense_variant,p.Tyr345Cys,ENST00000567612,;HP,3_prime_UTR_variant,,ENST00000562526,;HPR,intron_variant,,ENST00000356967,;TXNL4B,intron_variant,,ENST00000562153,;HP,downstream_gene_variant,,ENST00000569639,;HP,downstream_gene_variant,,ENST00000564499,;HPR,upstream_gene_variant,,ENST00000540303,;HP,downstream_gene_variant,,ENST00000568417,;HPR,upstream_gene_variant,,ENST00000561690,;HP,downstream_gene_variant,,ENST00000576168,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,downstream_gene_variant,,ENST00000561927,;HP,downstream_gene_variant,,ENST00000565807,;HP,downstream_gene_variant,,ENST00000562488,;HPR,upstream_gene_variant,,ENST00000566168,;	1215	129	120	SUCCESS
CCDC144NL	339184	.	GRCh37	17	20768818	20768818	+	synonymous_variant	Silent	SNP	A	A	G	rs751109540	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	18	0	ENST00000327925.5:c.576T>C	p.Tyr192=	p.Y192=	ENST00000327925	NM_001004306.1	192	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS32591.1	576	MUTECT|MUSE	.	TGACAATACTC	NONE	.	.	hmmpanther:PTHR22245:SF1,hmmpanther:PTHR22245	.	.	ENSP00000328054	.	4/4	.	.	.	.	.	.	.	.	rs751109540	4/4	PASS	ENST00000327925	Transcript	.	.	ENSG00000205212	33735	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C144L_HUMAN	CCDC144NL	HGNC	.	.	UPI00001D7A84	SNV	CCDC144NL,synonymous_variant,p.%3D,ENST00000327925,;RP11-344E13.3,upstream_gene_variant,,ENST00000577860,;RP11-344E13.3,upstream_gene_variant,,ENST00000582324,;RP11-344E13.3,upstream_gene_variant,,ENST00000583962,;RP11-344E13.3,upstream_gene_variant,,ENST00000439794,;RP11-344E13.3,upstream_gene_variant,,ENST00000577537,;RP11-344E13.3,upstream_gene_variant,,ENST00000417232,;CCDC144NL,non_coding_transcript_exon_variant,,ENST00000539484,;CCDC144NL,downstream_gene_variant,,ENST00000539177,;	696	18	22	SUCCESS
GSG2	0	.	GRCh37	17	3629472	3629472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	115	0	ENST00000325418.4:c.2243T>C	p.Leu748Pro	p.L748P	ENST00000325418	NM_031965.2	748	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS11036.1	2243	MUTECT|MUSE	.	TTACCTGACAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24419:SF20,hmmpanther:PTHR24419,Pfam_domain:PF12330,SMART_domains:SM00220	.	.	ENSP00000325290	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325418	Transcript	.	.	ENSG00000177602	19682	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HASP_HUMAN	GSG2	HGNC	.	.	UPI0000141654	SNV	GSG2,missense_variant,p.Leu748Pro,ENST00000325418,;ITGAE,intron_variant,,ENST00000263087,;ITGAE,downstream_gene_variant,,ENST00000574026,;CTD-3195I5.4,upstream_gene_variant,,ENST00000575043,;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,;ITGAE,intron_variant,,ENST00000571185,;ITGAE,upstream_gene_variant,,ENST00000570360,;ITGAE,upstream_gene_variant,,ENST00000572179,;ITGAE,intron_variant,,ENST00000570415,;	2262	115	94	SUCCESS
SIX5	147912	.	GRCh37	19	46270086	46270086	+	synonymous_variant	Silent	SNP	G	G	A	rs772387291	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	78	0	ENST00000317578.6:c.1131C>T	p.Ala377=	p.A377=	ENST00000317578	NM_175875.4	377	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS12673.1	1131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTGGCCCC	NONE	byFrequency	.	hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390,Low_complexity_(Seg):seg	.	.	ENSP00000316842	.	2/3	.	.	.	.	.	.	.	.	rs772387291	2/3	PASS	ENST00000317578	Transcript	1	.	ENSG00000177045	10891	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIX5_HUMAN	SIX5	HGNC	.	.	UPI0000366E2B	SNV	SIX5,synonymous_variant,p.%3D,ENST00000317578,;SIX5,3_prime_UTR_variant,,ENST00000560168,;SIX5,intron_variant,,ENST00000560160,;DMPK,downstream_gene_variant,,ENST00000593574,;DMPK,downstream_gene_variant,,ENST00000597660,;DMPK,downstream_gene_variant,,ENST00000291270,;DMPK,downstream_gene_variant,,ENST00000458663,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000447742,;DMPK,downstream_gene_variant,,ENST00000354227,;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000343373,;AC074212.5,intron_variant,,ENST00000559756,;AC074212.6,upstream_gene_variant,,ENST00000591530,;AC074212.6,upstream_gene_variant,,ENST00000590076,;AC074212.6,upstream_gene_variant,,ENST00000586498,;AC074212.6,upstream_gene_variant,,ENST00000586251,;AC074212.5,upstream_gene_variant,,ENST00000592217,;DMPK,downstream_gene_variant,,ENST00000588522,;DMPK,downstream_gene_variant,,ENST00000600370,;DMPK,downstream_gene_variant,,ENST00000598272,;DMPK,downstream_gene_variant,,ENST00000596686,;	1513	78	54	SUCCESS
ZSCAN4	201516	.	GRCh37	19	58189641	58189641	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	47	96	0	ENST00000318203.5:c.670G>A	p.Glu224Lys	p.E224K	ENST00000318203	NM_152677.2	224	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12958.1	670	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGAAGAG	NONE	.	.	hmmpanther:PTHR23226:SF45,hmmpanther:PTHR23226	.	.	ENSP00000321963	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000318203	Transcript	.	.	ENSG00000180532	23709	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.076)	.	tolerated(0.08)	.	ZSCA4_HUMAN	ZSCAN4	HGNC	.	.	UPI000006E923	SNV	ZSCAN4,missense_variant,p.Glu224Lys,ENST00000318203,;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000282296,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000601064,;ZNF551,upstream_gene_variant,,ENST00000356715,;AC003006.7,upstream_gene_variant,,ENST00000599221,;ZNF551,upstream_gene_variant,,ENST00000599402,;	1367	96	109	SUCCESS
OR1M1	125963	.	GRCh37	19	9204711	9204711	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1332959232	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	5	65	0	ENST00000429566.3:c.791C>T	p.Ser264Leu	p.S264L	ENST00000429566	NM_001004456.1	264	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS32896.1	791	MUTECT|MUSE|VARSCANS	.	CTCCTCGGTCC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000401966	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000429566	Transcript	.	.	ENSG00000170929	8220	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.936)	.	deleterious(0.02)	.	OR1M1_HUMAN	OR1M1	HGNC	.	.	UPI0000041C29	SNV	OR1M1,missense_variant,p.Ser264Leu,ENST00000429566,;	857	65	62	SUCCESS
ANKRD35	148741	.	GRCh37	1	145562472	145562472	+	synonymous_variant	Silent	SNP	C	C	T	rs1442136404	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	47	154	0	ENST00000355594.4:c.2160C>T	p.Ser720=	p.S720=	ENST00000355594	NM_144698.4	720	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS919.1	2160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGCAAAGC	NONE	.	.	hmmpanther:PTHR24161:SF14,hmmpanther:PTHR24161	.	.	ENSP00000347802	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000355594	Transcript	.	.	ENSG00000198483	26323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR35_HUMAN	ANKRD35	HGNC	.	.	UPI000013E1CE	SNV	ANKRD35,synonymous_variant,p.%3D,ENST00000355594,;ANKRD35,downstream_gene_variant,,ENST00000544626,;	2247	154	174	SUCCESS
YY1AP1	55249	.	GRCh37	1	155640243	155640243	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs773985151	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	38	117	0	ENST00000295566.4:c.794C>G	p.Pro265Arg	p.P265R	ENST00000295566	NM_139118.2	265	cCc/cGc	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS55645.1	1010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGGGAAAT	NONE	byFrequency	.	hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9	.	.	ENSP00000357323	.	7/10	.	.	.	.	.	.	.	.	rs773985151	7/10	PASS	ENST00000368339	Transcript	.	.	ENSG00000163374	30935	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.8)	.	deleterious(0)	.	YYAP1_HUMAN	YY1AP1	HGNC	A3KFK2_HUMAN,A3KFK1_HUMAN	.	UPI0001AE792F	SNV	YY1AP1,missense_variant,p.Pro199Arg,ENST00000355499,;YY1AP1,missense_variant,p.Pro188Arg,ENST00000311573,;YY1AP1,missense_variant,p.Pro337Arg,ENST00000405763,;YY1AP1,missense_variant,p.Pro65Arg,ENST00000535662,;YY1AP1,missense_variant,p.Pro337Arg,ENST00000368339,;YY1AP1,missense_variant,p.Pro265Arg,ENST00000295566,;YY1AP1,missense_variant,p.Pro199Arg,ENST00000347088,;YY1AP1,missense_variant,p.Pro188Arg,ENST00000361831,;YY1AP1,missense_variant,p.Pro337Arg,ENST00000368340,;YY1AP1,missense_variant,p.Pro188Arg,ENST00000443231,;YY1AP1,missense_variant,p.Pro188Arg,ENST00000407221,;YY1AP1,missense_variant,p.Pro199Arg,ENST00000404643,;YY1AP1,missense_variant,p.Pro188Arg,ENST00000359205,;YY1AP1,missense_variant,p.Pro199Arg,ENST00000368330,;YY1AP1,intron_variant,,ENST00000438245,;MSTO1,intron_variant,,ENST00000538143,;MSTO1,intron_variant,,ENST00000452804,;YY1AP1,downstream_gene_variant,,ENST00000454523,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000488784,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000493625,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000477470,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476093,;YY1AP1,downstream_gene_variant,,ENST00000476027,;YY1AP1,downstream_gene_variant,,ENST00000466366,;YY1AP1,3_prime_UTR_variant,,ENST00000361140,;YY1AP1,3_prime_UTR_variant,,ENST00000436865,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000442834,;YY1AP1,intron_variant,,ENST00000354691,;YY1AP1,downstream_gene_variant,,ENST00000496324,;MSTO2P,intron_variant,,ENST00000538914,;	1015	117	139	SUCCESS
IPO9	55705	.	GRCh37	1	201837806	201837806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	4	62	0	ENST00000361565.4:c.1886T>C	p.Ile629Thr	p.I629T	ENST00000361565	NM_018085.4	629	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS1415.1	1886	MUTECT|MUSE	.	GGACATCTTCA	NONE	.	.	hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000354742	.	16/24	.	.	.	.	.	.	.	.	.	16/24	PASS	ENST00000361565	Transcript	.	.	ENSG00000198700	19425	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.342)	.	deleterious(0)	.	IPO9_HUMAN	IPO9	HGNC	.	.	UPI000007304B	SNV	IPO9,missense_variant,p.Ile629Thr,ENST00000361565,;	1955	62	78	SUCCESS
TRIM11	81559	.	GRCh37	1	228593928	228593928	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	24	0	ENST00000284551.6:c.335C>T	p.Ala112Val	p.A112V	ENST00000284551	NM_145214.2	112	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS31048.1	335	MUTECT|MUSE	.	AGGCCGCACAC	NONE	.	.	PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF254,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845	.	.	ENSP00000284551	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000284551	Transcript	.	.	ENSG00000154370	16281	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(1)	.	TRI11_HUMAN	TRIM11	HGNC	.	.	UPI000005340A	SNV	TRIM11,missense_variant,p.Ala112Val,ENST00000284551,;TRIM11,missense_variant,p.Ala112Val,ENST00000366699,;TRIM11,upstream_gene_variant,,ENST00000602308,;TRIM17,downstream_gene_variant,,ENST00000366697,;TRIM11,upstream_gene_variant,,ENST00000602582,;TRIM17,downstream_gene_variant,,ENST00000456946,;TRIM17,downstream_gene_variant,,ENST00000295033,;TRIM17,downstream_gene_variant,,ENST00000366698,;TRIM11,upstream_gene_variant,,ENST00000493030,;TRIM17,downstream_gene_variant,,ENST00000479800,;RP11-245P10.4,upstream_gene_variant,,ENST00000436779,;TRIM11,upstream_gene_variant,,ENST00000460651,;	614	24	31	SUCCESS
MLK4	0	.	GRCh37	1	233489695	233489695	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1327714176	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	70	85	0	ENST00000366624.3:c.1129A>G	p.Met377Val	p.M377V	ENST00000366624	NM_032435.2	377	Atg/Gtg	0	.	.	.	.	.	G	M/V	protein_coding	YES	CCDS1598.1	1129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCATGAAA	NONE	.	.	Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR23257:SF418,hmmpanther:PTHR23257,PROSITE_profiles:PS50011	.	.	ENSP00000355583	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000366624	Transcript	.	.	ENSG00000143674	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0.02)	.	M3KL4_HUMAN	MLK4	Uniprot_gn	.	.	UPI000013D922	SNV	MLK4,missense_variant,p.Met377Val,ENST00000366623,;MLK4,missense_variant,p.Met377Val,ENST00000366624,;	1390	85	117	SUCCESS
CSMD2	114784	.	GRCh37	1	34209061	34209061	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	G	rs767876663	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	22	59	0	ENST00000241312.4:c.1873G>C	p.Val625Leu	p.V625L	ENST00000241312		625	Gtg/Ctg	0	.	.	.	.	.	G	V/L	nonsense_mediated_decay	YES	CCDS380.1	1873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGTCAA	NONE	byFrequency	.	Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	14/70	.	.	.	.	.	.	.	.	rs767876663,COSM186050	14/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.079)	.	tolerated(0.49)	0,1	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,missense_variant,p.Val665Leu,ENST00000373381,;CSMD2,missense_variant,p.Val625Leu,ENST00000241312,;	1902	59	68	SUCCESS
COL24A1	255631	.	GRCh37	1	86200503	86200503	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	69	175	0	ENST00000370571.2:c.4927A>T	p.Lys1643Ter	p.K1643*	ENST00000370571	NM_152890.5	1643	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS41353.1	4927	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTGAAAC	NONE	.	.	PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,Pfam_domain:PF01410,SMART_domains:SM00038	.	.	ENSP00000359603	.	59/60	.	.	.	.	.	.	.	.	.	59/60	PASS	ENST00000370571	Transcript	.	.	ENSG00000171502	20821	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COOA1_HUMAN	COL24A1	HGNC	E9PNK8_HUMAN	.	UPI000013E81F	SNV	COL24A1,stop_gained,p.Lys1622Ter,ENST00000436319,;COL24A1,stop_gained,p.Lys1643Ter,ENST00000370571,;COL24A1,3_prime_UTR_variant,,ENST00000473734,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;	5294	175	185	SUCCESS
DYNLRB1	83658	.	GRCh37	20	33117703	33117703	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	32	0	ENST00000357156.2:c.79+3555G>A		p.*27*	ENST00000357156	NM_014183.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13235.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTGCTCAG	NONE	.	.	.	.	.	ENSP00000349679	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357156	Transcript	.	.	ENSG00000125971	15468	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLRB1_HUMAN	DYNLRB1	HGNC	.	.	UPI0000040BFB	SNV	DYNLRB1,missense_variant,p.Ala43Thr,ENST00000300469,;DYNLRB1,intron_variant,,ENST00000374846,;DYNLRB1,intron_variant,,ENST00000357156,;DYNLRB1,intron_variant,,ENST00000417166,;Y_RNA,upstream_gene_variant,,ENST00000383855,;DYNLRB1,non_coding_transcript_exon_variant,,ENST00000480759,;	.	32	30	SUCCESS
EDN3	1908	.	GRCh37	20	57899428	57899428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	54	129	0	ENST00000337938.2:c.631C>T	p.His211Tyr	p.H211Y	ENST00000337938	NM_207034.1	211	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS13477.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCACCAT	NONE	.	.	hmmpanther:PTHR13874:SF6,hmmpanther:PTHR13874	.	.	ENSP00000337128	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337938	Transcript	1	.	ENSG00000124205	3178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	tolerated_low_confidence(0.07)	.	EDN3_HUMAN	EDN3	HGNC	Q6LDQ8_HUMAN	.	UPI000012A221	SNV	EDN3,missense_variant,p.His211Tyr,ENST00000371028,;EDN3,missense_variant,p.His211Tyr,ENST00000337938,;EDN3,missense_variant,p.His197Tyr,ENST00000395654,;EDN3,3_prime_UTR_variant,,ENST00000311585,;EDN3,3_prime_UTR_variant,,ENST00000371025,;	1017	129	117	SUCCESS
FBLN1	2192	.	GRCh37	22	45937218	45937218	+	synonymous_variant	Silent	SNP	C	C	T	rs1215978822	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	102	0	ENST00000327858.6:c.1032C>T	p.Gly344=	p.G344=	ENST00000327858	NM_006486.2	344	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14067.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCTACCA	NONE	.	.	hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000331544	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,synonymous_variant,p.%3D,ENST00000402984,;FBLN1,synonymous_variant,p.%3D,ENST00000262722,;FBLN1,synonymous_variant,p.%3D,ENST00000340923,;FBLN1,synonymous_variant,p.%3D,ENST00000348697,;FBLN1,synonymous_variant,p.%3D,ENST00000327858,;FBLN1,synonymous_variant,p.%3D,ENST00000442170,;FBLN1,non_coding_transcript_exon_variant,,ENST00000476366,;FBLN1,3_prime_UTR_variant,,ENST00000437711,;FBLN1,downstream_gene_variant,,ENST00000460538,;	1127	102	100	SUCCESS
CELSR1	9620	.	GRCh37	22	46930896	46930896	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	50	0	ENST00000262738.3:c.2172C>T	p.Leu724=	p.L724=	ENST00000262738	NM_014246.1	724	ctC/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS14076.1	2172	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGAGCTG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268	.	.	ENSP00000262738	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000262738	Transcript	.	.	ENSG00000075275	1850	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CELR1_HUMAN	CELSR1	HGNC	Q8NDT0_HUMAN	.	UPI0000040648	SNV	CELSR1,synonymous_variant,p.%3D,ENST00000262738,;CELSR1,synonymous_variant,p.%3D,ENST00000395964,;CELSR1,synonymous_variant,p.%3D,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	2172	50	31	SUCCESS
PLXNB2	23654	.	GRCh37	22	50718956	50718956	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	56	0	ENST00000359337.4:c.4137G>C	p.Gln1379His	p.Q1379H	ENST00000359337	NM_012401.3	1379	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS43035.1	4137	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTACTGCTC	NONE	.	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF9,Gene3D:1.10.506.10,Pfam_domain:PF08337,Superfamily_domains:SSF48350	.	.	ENSP00000409171	.	25/37	.	.	.	.	.	.	.	.	.	25/37	PASS	ENST00000449103	Transcript	.	.	ENSG00000196576	9104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.941)	.	deleterious(0.01)	.	PLXB2_HUMAN	PLXNB2	HGNC	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN	.	UPI000003812D	SNV	PLXNB2,missense_variant,p.Gln1379His,ENST00000359337,;PLXNB2,missense_variant,p.Gln1379His,ENST00000449103,;PLXNB2,intron_variant,,ENST00000411680,;AL022328.1,downstream_gene_variant,,ENST00000595015,;PLXNB2,downstream_gene_variant,,ENST00000427829,;PLXNB2,downstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000479818,;PLXNB2,downstream_gene_variant,,ENST00000492578,;	4278	56	51	SUCCESS
CLK1	1195	.	GRCh37	2	201726515	201726515	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs780934923	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	98	0	ENST00000321356.4:c.71G>C	p.Ser24Thr	p.S24T	ENST00000321356	NM_004071.3	24	aGc/aCc	0	.	.	.	.	.	G	S/T	protein_coding	YES	CCDS54427.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGCTCCTC	NONE	byFrequency	.	hmmpanther:PTHR24058:SF2,hmmpanther:PTHR24058,Low_complexity_(Seg):seg	.	.	ENSP00000394734	.	2/13	.	.	.	.	.	.	.	.	rs780934923	2/13	PASS	ENST00000434813	Transcript	.	.	ENSG00000013441	2068	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.41)	.	CLK1_HUMAN	CLK1	HGNC	.	.	UPI00017A7024	SNV	CLK1,missense_variant,p.Ser24Thr,ENST00000321356,;CLK1,missense_variant,p.Ser66Thr,ENST00000434813,;CLK1,upstream_gene_variant,,ENST00000409769,;Y_RNA,downstream_gene_variant,,ENST00000516950,;CLK1,intron_variant,,ENST00000492793,;CLK1,missense_variant,p.Ser24Thr,ENST00000409403,;CLK1,missense_variant,p.Ser24Thr,ENST00000432425,;CLK1,non_coding_transcript_exon_variant,,ENST00000473565,;CLK1,non_coding_transcript_exon_variant,,ENST00000481641,;CLK1,non_coding_transcript_exon_variant,,ENST00000482590,;CLK1,upstream_gene_variant,,ENST00000461981,;	532	98	80	SUCCESS
ATG9A	79065	.	GRCh37	2	220087067	220087067	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	135	0	ENST00000361242.4:c.1954C>G	p.Leu652Val	p.L652V	ENST00000361242	NM_001077198.1	652	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS42820.1	1954	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCAGGGCAG	NONE	.	.	hmmpanther:PTHR13038:SF13,hmmpanther:PTHR13038	.	.	ENSP00000386710	.	12/16	.	.	.	.	.	.	.	.	.	12/16	PASS	ENST00000409618	Transcript	.	.	ENSG00000198925	22408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.15)	.	ATG9A_HUMAN	ATG9A	HGNC	C9JXG2_HUMAN,C9JX27_HUMAN,C9JS65_HUMAN,C9JKV7_HUMAN,C9JFV2_HUMAN,C9JDK4_HUMAN,C9JD65_HUMAN,C9IYZ9_HUMAN	.	UPI0000209615	SNV	ATG9A,missense_variant,p.Leu211Val,ENST00000429920,;ATG9A,missense_variant,p.Leu652Val,ENST00000361242,;ATG9A,missense_variant,p.Leu591Val,ENST00000409422,;ATG9A,missense_variant,p.Leu652Val,ENST00000396761,;ATG9A,missense_variant,p.Leu652Val,ENST00000409618,;ATG9A,downstream_gene_variant,,ENST00000434939,;ATG9A,downstream_gene_variant,,ENST00000431715,;ABCB6,upstream_gene_variant,,ENST00000265316,;ATG9A,downstream_gene_variant,,ENST00000443140,;ATG9A,downstream_gene_variant,,ENST00000428226,;ATG9A,downstream_gene_variant,,ENST00000439812,;ABCB6,upstream_gene_variant,,ENST00000439002,;ATG9A,downstream_gene_variant,,ENST00000432520,;ATG9A,downstream_gene_variant,,ENST00000457841,;ATG9A,downstream_gene_variant,,ENST00000436856,;ABCB6,upstream_gene_variant,,ENST00000295750,;AC068946.1,downstream_gene_variant,,ENST00000408417,;ATG9A,downstream_gene_variant,,ENST00000488833,;ATG9A,missense_variant,p.Leu68Val,ENST00000446716,;ATG9A,3_prime_UTR_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000448398,;ATG9A,downstream_gene_variant,,ENST00000456708,;ATG9A,upstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000452545,;ATG9A,downstream_gene_variant,,ENST00000486766,;ATG9A,downstream_gene_variant,,ENST00000466217,;ABCB6,upstream_gene_variant,,ENST00000417678,;ATG9A,downstream_gene_variant,,ENST00000412355,;ATG9A,downstream_gene_variant,,ENST00000455079,;	2394	135	99	SUCCESS
SCLY	51540	.	GRCh37	2	238972995	238972995	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	34	54	0	ENST00000254663.6:c.114-3C>T		p.X38_splice	ENST00000254663	NM_016510.5	38		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2524.2	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCAGGAA	NONE	.	.	.	.	.	ENSP00000254663	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000254663	Transcript	.	.	ENSG00000132330	18161	.	.	LOW	1/11	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SCLY_HUMAN	SCLY	HGNC	B4DDP9_HUMAN	.	UPI0000EE3842	SNV	SCLY,splice_region_variant,,ENST00000416757,;SCLY,splice_region_variant,,ENST00000555827,;SCLY,splice_region_variant,,ENST00000254663,;SCLY,splice_region_variant,,ENST00000373332,;SCLY,splice_region_variant,,ENST00000422984,;SCLY,splice_region_variant,,ENST00000409736,;SCLY,splice_region_variant,,ENST00000429612,;SCLY,splice_region_variant,,ENST00000413463,;SCLY,splice_region_variant,,ENST00000412508,;SCLY,splice_region_variant,,ENST00000480859,;SCLY,splice_region_variant,,ENST00000480357,;SCLY,splice_region_variant,,ENST00000443532,;SCLY,splice_region_variant,,ENST00000446202,;UBE2F-SCLY,splice_region_variant,,ENST00000449891,;SCLY,splice_region_variant,,ENST00000423324,;UBE2F-SCLY,splice_region_variant,,ENST00000449191,;SCLY,splice_region_variant,,ENST00000497256,;SCLY,splice_region_variant,,ENST00000487197,;SCLY,upstream_gene_variant,,ENST00000482031,;	.	54	65	SUCCESS
CCDC121	79635	.	GRCh37	2	27849931	27849931	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	31	82	0	ENST00000324364.3:c.736A>T	p.Arg246Ter	p.R246*	ENST00000324364	NM_024584.4	246	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS46247.1	1222	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCTCTGCC	NONE	.	.	hmmpanther:PTHR14845:SF1,hmmpanther:PTHR14845	.	.	ENSP00000412150	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394775	Transcript	.	.	ENSG00000176714	25833	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC121_HUMAN	CCDC121	HGNC	.	.	UPI0000208190	SNV	CCDC121,stop_gained,p.Arg246Ter,ENST00000324364,;CCDC121,stop_gained,p.Arg408Ter,ENST00000394775,;ZNF512,intron_variant,,ENST00000556601,;CCDC121,downstream_gene_variant,,ENST00000522876,;ZNF512,downstream_gene_variant,,ENST00000355467,;GPN1,upstream_gene_variant,,ENST00000264718,;GPN1,upstream_gene_variant,,ENST00000407583,;GPN1,upstream_gene_variant,,ENST00000503738,;GPN1,upstream_gene_variant,,ENST00000424214,;GPN1,upstream_gene_variant,,ENST00000610189,;GPN1,upstream_gene_variant,,ENST00000458167,;ZNF512,downstream_gene_variant,,ENST00000379717,;GPN1,upstream_gene_variant,,ENST00000515877,;RP11-158I13.2,intron_variant,,ENST00000505973,;GPN1,upstream_gene_variant,,ENST00000481754,;GPN1,upstream_gene_variant,,ENST00000461249,;GPN1,upstream_gene_variant,,ENST00000478484,;ZNF512,downstream_gene_variant,,ENST00000488055,;GPN1,upstream_gene_variant,,ENST00000436280,;	1337	82	70	SUCCESS
CDKL4	344387	.	GRCh37	2	39452979	39452979	+	splice_donor_variant	Splice_Site	DEL	C	C	-	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	26	59	0	ENST00000395035.3:c.290+1del		p.X97_splice	ENST00000395035		97		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33184.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TACTTACCCATT	NONE	.	.	.	.	.	ENSP00000368080	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378803	Transcript	.	.	ENSG00000205111	19287	.	.	HIGH	2/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDKL4_HUMAN	CDKL4	HGNC	.	.	UPI00000398E1	deletion	CDKL4,splice_donor_variant,,ENST00000395035,;CDKL4,splice_donor_variant,,ENST00000378803,;CDKL4,intron_variant,,ENST00000419111,;	.	59	99	SUCCESS
TTC14	151613	.	GRCh37	3	180328329	180328329	+	stop_retained_variant	Silent	SNP	A	A	G	rs1375820099	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	62	135	0	ENST00000296015.4:c.2312A>G	p.Ter771=	p.*771=	ENST00000296015	NM_133462.3	771	tAa/tGa	0	.	.	.	.	.	G	*	protein_coding	YES	CCDS3237.1	2312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTAATACA	NONE	.	.	.	.	.	ENSP00000296015	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000296015	Transcript	.	.	ENSG00000163728	24697	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC14_HUMAN	TTC14	HGNC	C9JBA2_HUMAN,C9J974_HUMAN	.	UPI00000720AE	SNV	TTC14,stop_retained_variant,p.%3D,ENST00000296015,;TTC14,3_prime_UTR_variant,,ENST00000412756,;TTC14,intron_variant,,ENST00000382584,;CCDC39,intron_variant,,ENST00000489868,;CCDC39,intron_variant,,ENST00000473854,;CCDC39,downstream_gene_variant,,ENST00000273654,;CCDC39,downstream_gene_variant,,ENST00000442201,;TTC14,intron_variant,,ENST00000487397,;TTC14,downstream_gene_variant,,ENST00000465625,;TTC14,3_prime_UTR_variant,,ENST00000465065,;CCDC39,downstream_gene_variant,,ENST00000476379,;TTC14,downstream_gene_variant,,ENST00000470669,;	2444	135	126	SUCCESS
NRROS	375387	.	GRCh37	3	196387632	196387632	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	72	0	ENST00000328557.4:c.1118A>G	p.Glu373Gly	p.E373G	ENST00000328557	NM_198565.1	373	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS3319.1	1118	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGAGCCCC	NONE	.	.	Superfamily_domains:SSF52047,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF245,PROSITE_profiles:PS51450	.	.	ENSP00000328625	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328557	Transcript	.	.	ENSG00000174004	24613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.543)	.	deleterious(0.03)	.	NRROS_HUMAN	NRROS	HGNC	.	.	UPI000000DA7E	SNV	NRROS,missense_variant,p.Glu373Gly,ENST00000328557,;PIGX,intron_variant,,ENST00000426755,;	1321	72	66	SUCCESS
SENP5	205564	.	GRCh37	3	196612404	196612404	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs751659534	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	104	0	ENST00000323460.5:c.352A>G	p.Lys118Glu	p.K118E	ENST00000323460	NM_152699.4	118	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS3322.1	352	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGAAGCTG	NONE	.	.	hmmpanther:PTHR12606:SF12,hmmpanther:PTHR12606	.	.	ENSP00000327197	.	2/10	.	.	.	.	.	.	.	.	rs751659534	2/10	PASS	ENST00000323460	Transcript	.	.	ENSG00000119231	28407	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	deleterious_low_confidence(0.01)	.	SENP5_HUMAN	SENP5	HGNC	C9JHT8_HUMAN	.	UPI00001AF3BE	SNV	SENP5,missense_variant,p.Lys118Glu,ENST00000323460,;SENP5,missense_variant,p.Lys118Glu,ENST00000445299,;SENP5,intron_variant,,ENST00000419026,;	601	104	82	SUCCESS
SCN10A	6336	.	GRCh37	3	38797307	38797307	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	39	98	0	ENST00000449082.2:c.1433G>T	p.Arg478Leu	p.R478L	ENST00000449082	NM_006514.2	478	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS33736.1	1433	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCGGGGT	CODON|p.R478H|c.1433G>A|3	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	.	.	ENSP00000390600	.	10/27	.	.	.	.	.	.	.	.	COSM1422871	10/27	PASS	ENST00000449082	Transcript	.	.	ENSG00000185313	10582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.031)	.	tolerated(0.15)	1	SCNAA_HUMAN	SCN10A	HGNC	.	.	UPI0000209BDA	SNV	SCN10A,missense_variant,p.Arg478Leu,ENST00000449082,;	1433	98	96	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs121913407	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	63	113	0	ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS2694.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	likely_pathogenic,pathogenic	CTCCTTCTCTG	SITE|p.S45P|c.133T>C|225,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.P44L|c.131C>T|3,CODON|p.S45del|c.133_135delTCT|50,BUFFER|p.T41S|c.122C>G|3,BUFFER|p.T41N|c.122C>A|7,BUFFER|p.T41I|c.122C>T|94,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.S45A|c.133T>G|15,BUFFER|p.S45T|c.133T>A|4,BUFFER|p.S45del|c.134_136delCTC|4,BUFFER|p.S45F|c.134C>T|518,BUFFER|p.S45Y|c.134C>A|27,BUFFER|p.S45C|c.134C>G|27,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9	byCluster	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913407,COSM5663,COSM5685,COSM5719	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.939)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Pro,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Pro,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	413	113	136	SUCCESS
CENPE	1062	.	GRCh37	4	104065618	104065618	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	41	73	0	ENST00000265148.3:c.5015A>G	p.Gln1672Arg	p.Q1672R	ENST00000265148	NM_001813.2	1672	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS34042.1	5015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGAGTC	NONE	.	.	hmmpanther:PTHR24115:SF384,hmmpanther:PTHR24115	.	.	ENSP00000265148	.	33/49	.	.	.	.	.	.	.	.	.	33/49	PASS	ENST00000265148	Transcript	1	.	ENSG00000138778	1856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	.	.	CENPE_HUMAN	CENPE	HGNC	D6RBW0_HUMAN	.	UPI000020B28A	SNV	CENPE,missense_variant,p.Gln1647Arg,ENST00000380026,;CENPE,missense_variant,p.Gln1672Arg,ENST00000265148,;CENPE,downstream_gene_variant,,ENST00000515478,;	5105	73	101	SUCCESS
CWH43	80157	.	GRCh37	4	49005762	49005762	+	synonymous_variant	Silent	SNP	A	A	G	rs753557343	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	75	0	ENST00000226432.4:c.813A>G	p.Ser271=	p.S271=	ENST00000226432	NM_025087.2	271	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS3486.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCAGCTGC	NONE	byFrequency	.	hmmpanther:PTHR14859:SF0,hmmpanther:PTHR14859	.	.	ENSP00000226432	.	7/16	.	.	.	.	.	.	.	.	rs753557343	7/16	PASS	ENST00000226432	Transcript	.	.	ENSG00000109182	26133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PG2IP_HUMAN	CWH43	HGNC	E7EQL2_HUMAN,D6RDZ8_HUMAN	.	UPI000020BC89	SNV	CWH43,synonymous_variant,p.%3D,ENST00000513409,;CWH43,synonymous_variant,p.%3D,ENST00000226432,;CWH43,non_coding_transcript_exon_variant,,ENST00000506221,;CWH43,intron_variant,,ENST00000514053,;	996	75	65	SUCCESS
UGT2B10	7365	.	GRCh37	4	69696589	69696589	+	missense_variant	Missense_Mutation	SNP	A	A	G	.	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	5	89	0	ENST00000265403.7:c.1579A>G	p.Arg527Gly	p.R527G	ENST00000265403	NM_001075.4	527	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	.	1579	MUTECT|MUSE	.	GAAAAAGGGAT	NONE	.	.	hmmpanther:PTHR11926:SF124,hmmpanther:PTHR11926	.	.	ENSP00000265403	.	6/6	.	.	.	.	.	.	.	.	COSM4125661,COSM4125660	6/6	PASS	ENST00000265403	Transcript	.	.	ENSG00000109181	12544	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1,1	.	.	benign(0.097)	.	deleterious(0.03)	1,1	UDB10_HUMAN	UGT2B10	HGNC	.	.	UPI0000137A96	SNV	UGT2B10,missense_variant,p.Arg527Gly,ENST00000265403,;UGT2B10,missense_variant,p.Arg443Gly,ENST00000458688,;RP11-468N14.3,downstream_gene_variant,,ENST00000512503,;	1606	89	110	SUCCESS
BASP1	10409	.	GRCh37	5	17275402	17275403	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CGAGGGCG	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	290	52	303	0	ENST00000322611.3:c.80_87dup	p.Ala30ArgfsTer197	p.A30Rfs*197	ENST00000322611	NM_006317.4	26	gcc/gcCGAGGGCGc	0	.	.	.	.	.	CGAGGGCG	A/AEGX	protein_coding	YES	CCDS3888.1	77-78	INDELOCATOR|VARSCANI	.	GAAGGCCGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	10	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	insertion	BASP1,frameshift_variant,p.Ala30ArgfsTer?,ENST00000606445,;BASP1,frameshift_variant,p.Ala30ArgfsTer197,ENST00000322611,;	337-338	303	342	SUCCESS
KIAA1191	57179	.	GRCh37	5	175786886	175786886	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	8	0	ENST00000298569.4:c.-132A>G		p.*44*	ENST00000298569	NM_020444.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4399.1	.	MUTECT|MUSE	.	CAAAGTAGCAA	NONE	.	.	.	.	.	ENSP00000298569	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000298569	Transcript	.	.	ENSG00000122203	29209	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P33MX_HUMAN	KIAA1191	HGNC	D6RF63_HUMAN,D6RCE3_HUMAN,D6RAJ7_HUMAN	.	UPI0000070560	SNV	KIAA1191,5_prime_UTR_variant,,ENST00000533553,;KIAA1191,5_prime_UTR_variant,,ENST00000393725,;KIAA1191,5_prime_UTR_variant,,ENST00000298569,;KIAA1191,5_prime_UTR_variant,,ENST00000503082,;KIAA1191,intron_variant,,ENST00000504688,;KIAA1191,intron_variant,,ENST00000506983,;KIAA1191,intron_variant,,ENST00000510164,;RP11-843P14.1,downstream_gene_variant,,ENST00000512934,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000506613,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000393728,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000506668,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000508023,;	403	8	9	SUCCESS
ARL10	285598	.	GRCh37	5	175798739	175798739	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	8	111	0	ENST00000310389.5:c.576C>T	p.Ala192=	p.A192=	ENST00000310389	NM_173664.4	192	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS4400.1	576	MUTECT|MUSE	.	GAGGCCATGAG	NONE	.	.	PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF126,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	.	.	ENSP00000308496	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310389	Transcript	.	.	ENSG00000175414	22042	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARL10_HUMAN	ARL10	HGNC	.	.	UPI000006FEF9	SNV	ARL10,synonymous_variant,p.%3D,ENST00000310389,;ARL10,intron_variant,,ENST00000503175,;ARL10,intron_variant,,ENST00000514533,;MIR1271,downstream_gene_variant,,ENST00000408537,;ARL10,downstream_gene_variant,,ENST00000507151,;	672	111	145	SUCCESS
IL6ST	3572	.	GRCh37	5	55260054	55260065	+	inframe_deletion	In_Frame_Del	DEL	TTGACAAAATAC	TTGACAAAATAC	-	.	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	TTGACAAAATAC	TTGACAAAATAC	.	.	.	.	.	.	.	.	.	.	.	.	.	115	86	156	0	ENST00000336909.5:c.567_578del	p.Tyr190_Asn193del	p.Y190_N193del	ENST00000336909		189	gtGTATTTTGTCAAc/gtc	0	.	.	.	.	.	-	VYFVN/V	protein_coding	YES	CCDS3971.1	567-578	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAATGTTGACAAAATACACAGT	CODON|p.S187_Y190delSTVY|c.560_571del12|3,CODON|p.Y186_Y190delYSTVY|c.557_571del15|3	.	.	hmmpanther:PTHR23036:SF25,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Pfam_domain:PF09240,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000370698	.	6/17	.	.	.	.	.	.	.	.	COSM3666638	6/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	1	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	deletion	IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000522633,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000381287,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000336909,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000381298,;IL6ST,inframe_deletion,p.Cys47_Thr51delinsSer,ENST00000396816,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000536319,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000381294,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000502326,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Tyr190_Asn193del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;	880-891	156	201	SUCCESS
SGTB	54557	.	GRCh37	5	64976566	64976566	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	8	92	0	ENST00000381007.4:c.535G>A	p.Ala179Thr	p.A179T	ENST00000381007	NM_019072.2	179	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS3988.1	535	MUTECT|MUSE	.	TAATGCCTTTT	NONE	.	.	PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904:SF290,hmmpanther:PTHR22904,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452	.	.	ENSP00000370395	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000381007	Transcript	.	.	ENSG00000197860	23567	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	SGTB_HUMAN	SGTB	HGNC	O75589_HUMAN,D6RFW1_HUMAN	.	UPI000004D24F	SNV	SGTB,missense_variant,p.Ala179Thr,ENST00000381007,;SGTB,missense_variant,p.Ala179Thr,ENST00000506816,;	771	92	111	SUCCESS
TRDN	10345	.	GRCh37	6	123785948	123785948	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	46	0	ENST00000334268.4:c.931+103A>G		p.*311*	ENST00000334268				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55053.1	.	MUTECT|MUSE	.	GAAAATATTGG	NONE	.	.	.	.	.	ENSP00000381240	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODIFIER	10/40	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,3_prime_UTR_variant,,ENST00000546248,;TRDN,intron_variant,,ENST00000398178,;TRDN,intron_variant,,ENST00000334268,;RP11-532N4.2,intron_variant,,ENST00000427828,;RP11-532N4.2,intron_variant,,ENST00000589182,;RP11-532N4.2,intron_variant,,ENST00000587106,;RP11-532N4.2,intron_variant,,ENST00000418467,;RP11-532N4.2,intron_variant,,ENST00000434768,;RP11-532N4.2,downstream_gene_variant,,ENST00000587049,;	.	46	47	SUCCESS
RXRB	6257	.	GRCh37	6	33162491	33162491	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	31	81	0	ENST00000374680.3:c.1570G>T	p.Glu524Ter	p.E524*	ENST00000374680	NM_021976.4	524	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS59007.1	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCATGA	NONE	.	.	hmmpanther:PTHR24083:SF90,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	.	.	ENSP00000363817	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000374685	Transcript	.	.	ENSG00000204231	10478	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RXRB_HUMAN	RXRB	HGNC	E9PK75_HUMAN	.	UPI0000E5AD48	SNV	RXRB,stop_gained,p.Glu524Ter,ENST00000374680,;RXRB,stop_gained,p.Glu528Ter,ENST00000374685,;RXRB,stop_gained,p.Glu338Ter,ENST00000544186,;COL11A2,upstream_gene_variant,,ENST00000395197,;COL11A2,upstream_gene_variant,,ENST00000395194,;COL11A2,upstream_gene_variant,,ENST00000361917,;COL11A2,upstream_gene_variant,,ENST00000374712,;COL11A2,upstream_gene_variant,,ENST00000357486,;COL11A2,upstream_gene_variant,,ENST00000374708,;RXRB,downstream_gene_variant,,ENST00000413614,;COL11A2,upstream_gene_variant,,ENST00000341947,;COL11A2,upstream_gene_variant,,ENST00000374714,;COL11A2,upstream_gene_variant,,ENST00000374713,;COL11A2,upstream_gene_variant,,ENST00000457788,;RNY4P10,upstream_gene_variant,,ENST00000365571,;RXRB,3_prime_UTR_variant,,ENST00000483281,;RXRB,non_coding_transcript_exon_variant,,ENST00000483821,;RXRB,downstream_gene_variant,,ENST00000481441,;	1720	81	62	SUCCESS
ANKRD66	100287718	.	GRCh37	6	46721610	46721610	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	112	0	ENST00000565422.1:c.480C>A	p.Ala160=	p.A160=	ENST00000565422	NM_001162435.2	160	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS59024.1	480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGCCCCTGA	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24193,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000454770	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000565422	Transcript	.	.	ENSG00000230062	44669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR66_HUMAN	ANKRD66	HGNC	.	.	UPI0001F7E3C7	SNV	ANKRD66,synonymous_variant,p.%3D,ENST00000565422,;ANKRD66,synonymous_variant,p.%3D,ENST00000445060,;ANKRD66,synonymous_variant,p.%3D,ENST00000536046,;RP11-268F1.3,downstream_gene_variant,,ENST00000438738,;	485	112	112	SUCCESS
FZD1	8321	.	GRCh37	7	90895843	90895843	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs753725473	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	56	0	ENST00000287934.2:c.1648A>G	p.Ile550Val	p.I550V	ENST00000287934	NM_003505.1	550	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS5620.1	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCATCGTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF81,hmmpanther:PTHR11309,Pfam_domain:PF01534,Prints_domain:PR00489	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	rs753725473	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.241)	.	tolerated(0.4)	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,missense_variant,p.Ile550Val,ENST00000287934,;	2061	56	47	SUCCESS
CDK9	1025	.	GRCh37	9	130550509	130550509	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	77	0	ENST00000373264.4:c.449T>C	p.Met150Thr	p.M150T	ENST00000373264	NM_001261.3	150	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS6879.1	449	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACATGAAGG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF158,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000362361	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000373264	Transcript	.	.	ENSG00000136807	1780	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	CDK9_HUMAN	CDK9	HGNC	.	.	UPI000013D041	SNV	CDK9,missense_variant,p.Met267Thr,ENST00000373265,;CDK9,missense_variant,p.Met150Thr,ENST00000373264,;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,non_coding_transcript_exon_variant,,ENST00000480353,;CDK9,non_coding_transcript_exon_variant,,ENST00000491521,;CDK9,upstream_gene_variant,,ENST00000498339,;	549	77	60	SUCCESS
FRMPD1	22844	.	GRCh37	9	37746177	37746177	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	75	0	ENST00000377765.3:c.4148C>A	p.Ala1383Asp	p.A1383D	ENST00000377765	NM_014907.2	1383	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS6612.1	4148	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCCCGAG	NONE	.	.	hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436	.	.	ENSP00000444411	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000539465	Transcript	.	.	ENSG00000070601	29159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	tolerated(0.09)	.	FRPD1_HUMAN	FRMPD1	HGNC	F5H0G3_HUMAN	.	UPI000013D2CC	SNV	FRMPD1,missense_variant,p.Ala1383Asp,ENST00000539465,;FRMPD1,missense_variant,p.Ala1383Asp,ENST00000377765,;FRMPD1,downstream_gene_variant,,ENST00000536622,;RP11-613M10.9,intron_variant,,ENST00000540557,;	4741	75	52	SUCCESS
KANK1	23189	.	GRCh37	9	713335	713335	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	37	107	0	ENST00000382297.2:c.2569T>G	p.Ser857Ala	p.S857A	ENST00000382297	NM_001256877.1	857	Tca/Gca	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS34976.1	2569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACTCACAG	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	deleterious(0.04)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Ser699Ala,ENST00000382293,;KANK1,missense_variant,p.Ser857Ala,ENST00000382303,;KANK1,missense_variant,p.Ser857Ala,ENST00000382297,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	3221	107	101	SUCCESS
CFP	5199	.	GRCh37	X	47483694	47483694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	56	139	0	ENST00000247153.3:c.1390C>A	p.Pro464Thr	p.P464T	ENST00000247153	NM_002621.2	464	Cct/Act	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS14282.1	1390	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGGTCTT	NONE	.	.	hmmpanther:PTHR22906	.	.	ENSP00000247153	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000247153	Transcript	.	.	ENSG00000126759	8864	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0)	.	PROP_HUMAN	CFP	HGNC	E9PAQ1_HUMAN,C9J7V5_HUMAN	.	UPI0000132325	SNV	CFP,missense_variant,p.Pro464Thr,ENST00000396992,;CFP,missense_variant,p.Pro464Thr,ENST00000247153,;CFP,downstream_gene_variant,,ENST00000469388,;SYN1,upstream_gene_variant,,ENST00000295987,;SYN1,upstream_gene_variant,,ENST00000340666,;CFP,downstream_gene_variant,,ENST00000377005,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000478222,;CFP,downstream_gene_variant,,ENST00000485991,;	1632	139	134	SUCCESS
STARD8	9754	.	GRCh37	X	67938119	67938126	+	frameshift_variant	Frame_Shift_Del	DEL	TGGGCCCA	TGGGCCCA	-	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	TGGGCCCA	TGGGCCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	115	60	183	0	ENST00000252336.6:c.1123_1130del	p.Trp375GlyfsTer2	p.W375Gfs*2	ENST00000252336	NM_014725.4	375	TGGGCCCAg/g	0	.	.	.	.	.	-	WAQ/X	protein_coding	YES	CCDS48134.1	1363-1370	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAGCCTGGGCCCAGGCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3	.	.	ENSP00000363727	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000374599	Transcript	.	.	ENSG00000130052	19161	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STAR8_HUMAN	STARD8	HGNC	.	.	UPI00002122B9	deletion	STARD8,frameshift_variant,p.Trp375GlyfsTer2,ENST00000252336,;STARD8,frameshift_variant,p.Trp375GlyfsTer2,ENST00000374597,;STARD8,frameshift_variant,p.Trp455GlyfsTer2,ENST00000374599,;STARD8,3_prime_UTR_variant,,ENST00000523864,;	1478-1485	183	175	SUCCESS
KAL1	0	.	GRCh37	X	8504916	8504916	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1239045660	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	77	202	0	ENST00000262648.3:c.1517G>A	p.Arg506Gln	p.R506Q	ENST00000262648	NM_000216.2	506	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS14130.1	1517	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCGTATT	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,hmmpanther:PTHR14131:SF3,hmmpanther:PTHR14131,PROSITE_profiles:PS50853	.	.	ENSP00000262648	.	11/14	.	.	.	.	.	.	.	.	COSM1126139	11/14	PASS	ENST00000262648	Transcript	.	.	ENSG00000011201	6211	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.002)	.	tolerated(0.41)	1	KALM_HUMAN	KAL1	HGNC	.	.	UPI00001AE843	SNV	KAL1,missense_variant,p.Arg506Gln,ENST00000262648,;KAL1,non_coding_transcript_exon_variant,,ENST00000481896,;	1667	202	196	SUCCESS
KIAA1217	56243	.	GRCh37	10	24816985	24816985	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	31	131	0	ENST00000376454.3:c.3019A>T	p.Met1007Leu	p.M1007L	ENST00000376454	NM_019590.3	1007	Atg/Ttg	0	.	.	.	.	.	T	M/L	protein_coding	YES	CCDS31165.1	3019	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGATGCCG	NONE	.	.	hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	.	.	ENSP00000365637	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000376454	Transcript	.	.	ENSG00000120549	25428	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	tolerated(0.08)	.	SKT_HUMAN	KIAA1217	HGNC	.	.	UPI000013EC2A	SNV	KIAA1217,missense_variant,p.Met1007Leu,ENST00000376454,;KIAA1217,missense_variant,p.Met690Leu,ENST00000396445,;KIAA1217,missense_variant,p.Met690Leu,ENST00000307544,;KIAA1217,missense_variant,p.Met690Leu,ENST00000396446,;KIAA1217,missense_variant,p.Met690Leu,ENST00000376451,;KIAA1217,missense_variant,p.Met972Leu,ENST00000376452,;KIAA1217,missense_variant,p.Met927Leu,ENST00000376462,;KIAA1217,missense_variant,p.Met972Leu,ENST00000458595,;KIAA1217,3_prime_UTR_variant,,ENST00000430453,;KIAA1217,downstream_gene_variant,,ENST00000376456,;KIAA1217,downstream_gene_variant,,ENST00000438429,;	3049	131	144	SUCCESS
RP11-313J2.1	0	.	GRCh37	10	42833426	42833426	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	17	0	ENST00000609841.1:n.478G>T		p.*160*	ENST00000609841				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCTAAGT	NONE	.	.	.	.	.	.	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000609841	Transcript	.	.	ENSG00000215146	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-313J2.1	Clone_based_vega_gene	.	.	.	SNV	RP11-313J2.1,non_coding_transcript_exon_variant,,ENST00000609841,;RP11-313J2.1,non_coding_transcript_exon_variant,,ENST00000609034,;RP11-313J2.1,non_coding_transcript_exon_variant,,ENST00000423987,;	478	17	19	SUCCESS
OR10G4	390264	.	GRCh37	11	123886314	123886314	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	26	101	0	ENST00000320891.4:c.33C>T	p.Ile11=	p.I11=	ENST00000320891	NM_001004462.1	11	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31702.1	33	RADIA|MUSE	.	TTCATCCTCAC	BUFFER|p.A9V|c.26C>T|5	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000325076	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320891	Transcript	.	.	ENSG00000254737	14809	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	O10G4_HUMAN	OR10G4	HGNC	.	.	UPI0000041BAD	SNV	OR10G4,synonymous_variant,p.%3D,ENST00000320891,;	33	101	97	SUCCESS
OR51L1	119682	.	GRCh37	11	5020793	5020793	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	21	142	0	ENST00000321543.1:c.581C>G	p.Ala194Gly	p.A194G	ENST00000321543	NM_001004755.1	194	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS31369.1	581	RADIA|MUTECT|MUSE	.	AGATGCCAGGA	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	.	.	ENSP00000322156	.	1/1	.	.	.	.	.	.	.	.	COSM542836	1/1	PASS	ENST00000321543	Transcript	.	.	ENSG00000176798	14759	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	probably_damaging(0.959)	.	tolerated(0.05)	1	O51L1_HUMAN	OR51L1	HGNC	.	.	UPI0000041B76	SNV	OR51L1,missense_variant,p.Ala194Gly,ENST00000321543,;	581	142	119	SUCCESS
OR52W1	120787	.	GRCh37	11	6221115	6221115	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770465457	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	23	89	0	ENST00000311352.2:c.662G>T	p.Gly221Val	p.G221V	ENST00000311352	NM_001005178.1	221	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS31407.1	662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGCTCCT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF58,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000309673	.	1/1	.	.	.	.	.	.	.	.	rs770465457,COSM358496	1/1	PASS	ENST00000311352	Transcript	.	.	ENSG00000175485	15239	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.691)	.	tolerated(1)	0,1	O52W1_HUMAN	OR52W1	HGNC	.	.	UPI000004B213	SNV	OR52W1,missense_variant,p.Gly221Val,ENST00000311352,;RP11-290F24.6,downstream_gene_variant,,ENST00000600308,;	740	89	86	SUCCESS
MAP3K11	4296	.	GRCh37	11	65380603	65380603	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1246742554	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	12	54	0	ENST00000309100.3:c.625C>T	p.Arg209Cys	p.R209C	ENST00000309100	NM_002419.3	209	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8107.1	625	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCGCCGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF329,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Superfamily_domains:SSF56112	.	.	ENSP00000309597	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000309100	Transcript	.	.	ENSG00000173327	6850	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,missense_variant,p.Arg209Cys,ENST00000309100,;MAP3K11,intron_variant,,ENST00000526293,;MAP3K11,intron_variant,,ENST00000529839,;PCNXL3,upstream_gene_variant,,ENST00000355703,;MAP3K11,upstream_gene_variant,,ENST00000530153,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000524856,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000527304,;MAP3K11,upstream_gene_variant,,ENST00000534110,;MAP3K11,upstream_gene_variant,,ENST00000524848,;MAP3K11,upstream_gene_variant,,ENST00000530949,;	1111	54	62	SUCCESS
C12orf40	283461	.	GRCh37	12	40076537	40076537	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772142935	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	19	102	0	ENST00000324616.5:c.811G>T	p.Gly271Trp	p.G271W	ENST00000324616	NM_001031748.2	271	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS41770.1	811	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGGGGAAA	NONE	.	.	Pfam_domain:PF15089	.	.	ENSP00000317671	.	8/13	.	.	.	.	.	.	.	.	rs772142935,COSM404492	8/13	PASS	ENST00000324616	Transcript	.	.	ENSG00000180116	26846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.954)	.	deleterious(0)	0,1	CL040_HUMAN	C12orf40	HGNC	.	.	UPI000069A925	SNV	C12orf40,missense_variant,p.Gly194Trp,ENST00000398716,;C12orf40,missense_variant,p.Gly271Trp,ENST00000405531,;C12orf40,missense_variant,p.Gly271Trp,ENST00000324616,;C12orf40,missense_variant,p.Gly194Trp,ENST00000468200,;	965	102	116	SUCCESS
ARID2	196528	.	GRCh37	12	46254732	46254732	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	69	0	ENST00000334344.6:c.4922A>C	p.Lys1641Thr	p.K1641T	ENST00000334344	NM_152641.2	1641	aAg/aCg	0	.	.	.	.	.	C	K/T	protein_coding	YES	CCDS31783.1	4922	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAAGTAAA	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,PROSITE_patterns:PS00028	.	.	ENSP00000335044	.	16/21	.	.	.	.	.	.	.	.	.	16/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.918)	.	deleterious(0.04)	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,missense_variant,p.Lys1641Thr,ENST00000334344,;ARID2,missense_variant,p.Lys1251Thr,ENST00000444670,;ARID2,missense_variant,p.Lys1492Thr,ENST00000422737,;ARID2,missense_variant,p.Lys249Thr,ENST00000457135,;ARID2,splice_region_variant,,ENST00000479608,;	5094	69	50	SUCCESS
NCKAP1L	3071	.	GRCh37	12	54910690	54910690	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	24	113	0	ENST00000293373.6:c.1009C>T	p.His337Tyr	p.H337Y	ENST00000293373	NM_005337.4	337	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS31813.1	1009	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCATTGT	NONE	.	.	hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735	.	.	ENSP00000293373	.	11/31	.	.	.	.	.	.	.	.	COSM1677036	11/31	PASS	ENST00000293373	Transcript	.	.	ENSG00000123338	4862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.309)	.	deleterious(0.02)	1	NCKPL_HUMAN	NCKAP1L	HGNC	Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN	.	UPI00001C0439	SNV	NCKAP1L,missense_variant,p.His337Tyr,ENST00000293373,;NCKAP1L,missense_variant,p.His287Tyr,ENST00000545638,;NCKAP1L,non_coding_transcript_exon_variant,,ENST00000552211,;NCKAP1L,missense_variant,p.His337Tyr,ENST00000548221,;NCKAP1L,upstream_gene_variant,,ENST00000549451,;NCKAP1L,downstream_gene_variant,,ENST00000548916,;	1088	113	96	SUCCESS
NAV3	89795	.	GRCh37	12	78553012	78553012	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	56	0	ENST00000397909.2:c.4815C>A	p.Ser1605Arg	p.S1605R	ENST00000397909	NM_001024383.1	1605	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS41815.1	4815	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGCTTAGG	NONE	.	.	hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	.	.	ENSP00000446132	.	23/39	.	.	.	.	.	.	.	.	.	23/39	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.662)	.	deleterious(0)	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,missense_variant,p.Ser1605Arg,ENST00000536525,;NAV3,missense_variant,p.Ser1605Arg,ENST00000397909,;NAV3,missense_variant,p.Ser234Arg,ENST00000550788,;NAV3,missense_variant,p.Ser1428Arg,ENST00000266692,;NAV3,missense_variant,p.Ser1605Arg,ENST00000228327,;NAV3,missense_variant,p.Ser500Arg,ENST00000552895,;	4988	56	63	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40265137	40265137	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	24	107	0	ENST00000263791.5:c.1582T>G	p.Trp528Gly	p.W528G	ENST00000263791	NM_001013703.2	528	Tgg/Ggg	0	.	.	.	.	.	G	W/G	protein_coding	YES	CCDS42016.1	1582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGGAGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000660,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263791	.	10/39	.	.	.	.	.	.	.	.	.	10/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Trp334Gly,ENST00000560855,;EIF2AK4,missense_variant,p.Trp528Gly,ENST00000382727,;EIF2AK4,missense_variant,p.Trp528Gly,ENST00000263791,;EIF2AK4,missense_variant,p.Trp528Gly,ENST00000559624,;	1625	107	142	SUCCESS
EIF2AK4	440275	.	GRCh37	15	40265138	40265138	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	26	108	0	ENST00000263791.5:c.1583G>T	p.Trp528Leu	p.W528L	ENST00000263791	NM_001013703.2	528	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS42016.1	1583	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGGAGTC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000660,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000263791	.	10/39	.	.	.	.	.	.	.	.	.	10/39	PASS	ENST00000263791	Transcript	1	.	ENSG00000128829	19687	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.06)	.	E2AK4_HUMAN	EIF2AK4	HGNC	.	.	UPI0000160791	SNV	EIF2AK4,missense_variant,p.Trp334Leu,ENST00000560855,;EIF2AK4,missense_variant,p.Trp528Leu,ENST00000382727,;EIF2AK4,missense_variant,p.Trp528Leu,ENST00000263791,;EIF2AK4,missense_variant,p.Trp528Leu,ENST00000559624,;	1626	108	144	SUCCESS
TLN2	83660	.	GRCh37	15	63011973	63011973	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	22	0	ENST00000306829.6:c.2885C>A	p.Ala962Asp	p.A962D	ENST00000306829	NM_015059.2	962	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS32261.1	2885	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCTGATC	NONE	.	.	Gene3D:1.20.1490.10,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	24/58	.	.	.	.	.	.	.	.	.	24/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	deleterious(0.05)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Ala962Asp,ENST00000561311,;TLN2,missense_variant,p.Ala962Asp,ENST00000306829,;	3115	22	26	SUCCESS
CLPX	10845	.	GRCh37	15	65472498	65472498	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs780719008	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	36	99	0	ENST00000300107.3:c.124G>A	p.Gly42Arg	p.G42R	ENST00000300107	NM_006660.3	42	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS10202.1	124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCAAGCC	NONE	byFrequency	.	hmmpanther:PTHR11262,hmmpanther:PTHR11262:SF4	.	.	ENSP00000300107	.	2/14	.	.	.	.	.	.	.	.	rs780719008	2/14	PASS	ENST00000300107	Transcript	.	.	ENSG00000166855	2088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated_low_confidence(0.12)	.	CLPX_HUMAN	CLPX	HGNC	H0YK07_HUMAN	.	UPI0000127B73	SNV	CLPX,missense_variant,p.Gly42Arg,ENST00000300107,;CLPX,missense_variant,p.Gly8Arg,ENST00000559218,;CLPX,missense_variant,p.Gly42Arg,ENST00000559152,;CLPX,non_coding_transcript_exon_variant,,ENST00000558958,;	313	99	143	SUCCESS
NEIL1	79661	.	GRCh37	15	75641582	75641582	+	synonymous_variant	Silent	SNP	A	A	G	rs148191833	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	72	0	ENST00000355059.4:c.336A>G	p.Leu112=	p.L112=	ENST00000355059	NM_024608.3	112	ctA/ctG	0	G:0.0009	.	.	.	.	G	L	protein_coding	YES	CCDS10278.1	336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTATGTTT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51068,hmmpanther:PTHR22993,Pfam_domain:PF01149,Gene3D:1ee8A01,SMART_domains:SM00898,Superfamily_domains:SSF81624	.	G:0.0001	ENSP00000457352	.	3/11	.	.	.	.	.	.	.	.	rs148191833	3/11	PASS	ENST00000564784	Transcript	.	.	ENSG00000140398	18448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEIL1_HUMAN	NEIL1	HGNC	H3BU98_HUMAN,H3BTX5_HUMAN,H3BT94_HUMAN,H3BST2_HUMAN,H3BRZ2_HUMAN,H3BQU8_HUMAN,H3BQE8_HUMAN,H3BN83_HUMAN	.	UPI000013D787	SNV	NEIL1,synonymous_variant,p.%3D,ENST00000564257,;NEIL1,synonymous_variant,p.%3D,ENST00000355059,;NEIL1,synonymous_variant,p.%3D,ENST00000564784,;NEIL1,synonymous_variant,p.%3D,ENST00000565051,;NEIL1,synonymous_variant,p.%3D,ENST00000567657,;NEIL1,synonymous_variant,p.%3D,ENST00000567005,;NEIL1,synonymous_variant,p.%3D,ENST00000569035,;NEIL1,downstream_gene_variant,,ENST00000569506,;NEIL1,downstream_gene_variant,,ENST00000566313,;NEIL1,downstream_gene_variant,,ENST00000566752,;NEIL1,downstream_gene_variant,,ENST00000564500,;NEIL1,downstream_gene_variant,,ENST00000568881,;NEIL1,downstream_gene_variant,,ENST00000568059,;MIR631,downstream_gene_variant,,ENST00000384904,;NEIL1,intron_variant,,ENST00000567959,;NEIL1,downstream_gene_variant,,ENST00000567681,;NEIL1,downstream_gene_variant,,ENST00000569390,;NEIL1,synonymous_variant,p.%3D,ENST00000568519,;NEIL1,non_coding_transcript_exon_variant,,ENST00000564738,;NEIL1,non_coding_transcript_exon_variant,,ENST00000561643,;NEIL1,non_coding_transcript_exon_variant,,ENST00000564951,;NEIL1,upstream_gene_variant,,ENST00000565121,;NEIL1,upstream_gene_variant,,ENST00000567393,;NEIL1,upstream_gene_variant,,ENST00000567547,;	965	72	62	SUCCESS
ANKFN1	162282	.	GRCh37	17	54535228	54535228	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	46	0	ENST00000318698.2:c.1454C>T	p.Ser485Phe	p.S485F	ENST00000318698	NM_153228.2	485	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS32686.1	1454	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCTTGTA	NONE	.	.	hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437	.	.	ENSP00000321627	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000318698	Transcript	.	.	ENSG00000153930	26766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.896)	.	deleterious(0)	.	ANKF1_HUMAN	ANKFN1	HGNC	.	.	UPI000049DE57	SNV	ANKFN1,missense_variant,p.Ser485Phe,ENST00000318698,;ANKFN1,missense_variant,p.Ser485Phe,ENST00000566473,;ANKFN1,non_coding_transcript_exon_variant,,ENST00000572321,;	1489	46	68	SUCCESS
AKAP1	8165	.	GRCh37	17	55182885	55182885	+	synonymous_variant	Silent	SNP	C	C	T	rs867529780	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	20	57	0	ENST00000337714.3:c.60C>T	p.Leu20=	p.L20=	ENST00000337714	NM_003488.3	20	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS11594.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGGCTG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12727	.	.	ENSP00000337736	.	2/11	.	.	.	.	.	.	.	.	COSM981674	2/11	PASS	ENST00000337714	Transcript	.	.	ENSG00000121057	367	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	AKAP1_HUMAN	AKAP1	HGNC	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN	.	UPI0000125778	SNV	AKAP1,synonymous_variant,p.%3D,ENST00000314126,;AKAP1,synonymous_variant,p.%3D,ENST00000575322,;AKAP1,synonymous_variant,p.%3D,ENST00000574683,;AKAP1,synonymous_variant,p.%3D,ENST00000571629,;AKAP1,synonymous_variant,p.%3D,ENST00000576591,;AKAP1,synonymous_variant,p.%3D,ENST00000573085,;AKAP1,synonymous_variant,p.%3D,ENST00000337714,;AKAP1,synonymous_variant,p.%3D,ENST00000572557,;AKAP1,synonymous_variant,p.%3D,ENST00000572156,;AKAP1,synonymous_variant,p.%3D,ENST00000539273,;AKAP1,synonymous_variant,p.%3D,ENST00000572814,;AKAP1,downstream_gene_variant,,ENST00000575186,;AKAP1,upstream_gene_variant,,ENST00000576295,;AKAP1,downstream_gene_variant,,ENST00000570423,;AKAP1,synonymous_variant,p.%3D,ENST00000481416,;AKAP1,upstream_gene_variant,,ENST00000573326,;	293	57	106	SUCCESS
MED13	9969	.	GRCh37	17	60024360	60024360	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	22	94	0	ENST00000397786.2:c.6310G>T	p.Val2104Leu	p.V2104L	ENST00000397786	NM_005121.2	2104	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS42366.1	6310	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCACGTGGA	NONE	.	.	hmmpanther:PTHR12950:SF22,hmmpanther:PTHR12950,Pfam_domain:PF06333	.	.	ENSP00000380888	.	29/30	.	.	.	.	.	.	.	.	.	29/30	PASS	ENST00000397786	Transcript	.	.	ENSG00000108510	22474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.03)	.	MED13_HUMAN	MED13	HGNC	.	.	UPI0000D7D6F6	SNV	MED13,missense_variant,p.Val2104Leu,ENST00000397786,;	6387	94	121	SUCCESS
RCVRN	5957	.	GRCh37	17	9808574	9808574	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs575289640	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	17	0	ENST00000226193.5:c.-77C>T		p.*26*	ENST00000226193	NM_002903.2			0	.	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS11151.1	.	MUTECT|MUSE	.	GCTGGGCTCAA	NONE	by1000G	.	.	T:0	.	ENSP00000226193	T:0	1/3	.	.	.	.	.	.	.	.	rs575289640	1/3	PASS	ENST00000226193	Transcript	.	T:0.0002	ENSG00000109047	9937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RECO_HUMAN	RCVRN	HGNC	Q53XL0_HUMAN,J3QL94_HUMAN	.	UPI0000000C33	SNV	RCVRN,5_prime_UTR_variant,,ENST00000226193,;RCVRN,upstream_gene_variant,,ENST00000570909,;	365	17	26	SUCCESS
CCDC178	374864	.	GRCh37	18	30847217	30847217	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	47	137	0	ENST00000383096.3:c.1221A>C	p.Gln407His	p.Q407H	ENST00000383096		407	caA/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS42424.1	1221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTTGCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil	.	.	ENSP00000372576	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.672)	.	deleterious(0.04)	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,missense_variant,p.Gln407His,ENST00000579947,;CCDC178,missense_variant,p.Gln407His,ENST00000406524,;CCDC178,missense_variant,p.Gln407His,ENST00000403303,;CCDC178,missense_variant,p.Gln407His,ENST00000383096,;CCDC178,missense_variant,p.Gln407His,ENST00000402325,;CCDC178,missense_variant,p.Gln407His,ENST00000300227,;CCDC178,missense_variant,p.Gln407His,ENST00000583930,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,upstream_gene_variant,,ENST00000581524,;	1404	137	182	SUCCESS
WDR7	23335	.	GRCh37	18	54687994	54687994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	22	96	0	ENST00000254442.3:c.4183G>A	p.Gly1395Arg	p.G1395R	ENST00000254442	NM_015285.2	1395	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS11962.1	4183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGGGACCA	NONE	.	.	PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000254442	.	27/28	.	.	.	.	.	.	.	.	.	27/28	PASS	ENST00000254442	Transcript	.	.	ENSG00000091157	13490	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	WDR7_HUMAN	WDR7	HGNC	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN	.	UPI000013CE33	SNV	WDR7,missense_variant,p.Gly1395Arg,ENST00000254442,;WDR7,missense_variant,p.Gly1362Arg,ENST00000357574,;WDR7,intron_variant,,ENST00000589935,;WDR7,3_prime_UTR_variant,,ENST00000591449,;	4394	96	100	SUCCESS
SALL3	27164	.	GRCh37	18	76753074	76753074	+	synonymous_variant	Silent	SNP	G	G	A	rs377646222	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	17	56	0	ENST00000537592.2:c.1083G>A	p.Pro361=	p.P361=	ENST00000537592	NM_171999.3	361	ccG/ccA	0	A:0.0002	.	.	.	.	A	P	protein_coding	YES	CCDS12013.1	1083	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCGCTTCT	BUFFER|p.L358L|c.1072C>T|6	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233	.	A:0	ENSP00000441823	.	2/3	.	.	.	.	.	.	.	.	rs377646222	2/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,synonymous_variant,p.%3D,ENST00000536229,;SALL3,synonymous_variant,p.%3D,ENST00000537592,;SALL3,synonymous_variant,p.%3D,ENST00000575389,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	1083	56	70	SUCCESS
COL5A3	50509	.	GRCh37	19	10097061	10097061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	66	0	ENST00000264828.3:c.2282G>T	p.Gly761Val	p.G761V	ENST00000264828	NM_015719.3	761	gGt/gTt	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS12222.1	2282	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGACCATCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	.	.	ENSP00000264828	.	30/67	.	.	.	.	.	.	.	.	.	30/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,missense_variant,p.Gly761Val,ENST00000264828,;	2368	66	51	SUCCESS
ZNF536	9745	.	GRCh37	19	31048062	31048062	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	rs769598360	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	35	132	0	ENST00000355537.3:c.3896-2A>T		p.X1299_splice	ENST00000355537	NM_014717.1	1299		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32984.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCAGGTAA	NONE	.	.	.	.	.	ENSP00000347730	.	.	.	.	.	.	.	.	.	.	rs769598360	.	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	HIGH	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,splice_acceptor_variant,,ENST00000355537,;ZNF536,intron_variant,,ENST00000592773,;	.	133	150	SUCCESS
ZNF880	400713	.	GRCh37	19	52887731	52887731	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	17	91	0	ENST00000422689.2:c.898G>A	p.Glu300Lys	p.E300K	ENST00000422689	NM_001145434.1	300	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46164.1	898	RADIA|MUTECT|MUSE|VARSCANS	.	GTAATGAGTGT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF108,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	.	.	ENSP00000406318	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000422689	Transcript	.	.	ENSG00000221923	37249	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.462)	.	deleterious(0.05)	.	ZN880_HUMAN	ZNF880	HGNC	.	.	UPI00001D818D	SNV	ZNF880,missense_variant,p.Glu300Lys,ENST00000422689,;ZNF880,downstream_gene_variant,,ENST00000600321,;ZNF880,downstream_gene_variant,,ENST00000424032,;CTD-3018O17.3,downstream_gene_variant,,ENST00000601562,;CTD-3018O17.3,downstream_gene_variant,,ENST00000594119,;	913	91	127	SUCCESS
SSC5D	284297	.	GRCh37	19	56028927	56028927	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	65	124	0	ENST00000389623.6:c.3284C>T	p.Pro1095Leu	p.P1095L	ENST00000389623	NM_001144950.1	1095	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS46196.1	3284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCCCAAAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000374274	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000389623	Transcript	.	.	ENSG00000179954	26641	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	.	.	SRCRL_HUMAN	SSC5D	HGNC	M0QZ17_HUMAN	.	UPI000192952A	SNV	SSC5D,missense_variant,p.Pro1095Leu,ENST00000389623,;	3307	124	157	SUCCESS
ZNF549	256051	.	GRCh37	19	58048954	58048954	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	111	0	ENST00000376233.3:c.582C>T	p.Ile194=	p.I194=	ENST00000376233	NM_001199295.1	194	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS56106.1	582	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCCTGGG	NONE	.	.	hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF30,SMART_domains:SM00355	.	.	ENSP00000365407	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376233	Transcript	.	.	ENSG00000121406	26632	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN549_HUMAN	ZNF549	HGNC	.	.	UPI0000202D31	SNV	ZNF549,synonymous_variant,p.%3D,ENST00000240719,;ZNF549,synonymous_variant,p.%3D,ENST00000376233,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,downstream_gene_variant,,ENST00000457177,;ZNF550,downstream_gene_variant,,ENST00000325134,;ZNF550,downstream_gene_variant,,ENST00000447310,;ZNF550,downstream_gene_variant,,ENST00000376230,;	763	112	178	SUCCESS
OR10R2	343406	.	GRCh37	1	158449910	158449910	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	111	0	ENST00000368152.1:c.243C>A	p.Phe81Leu	p.F81L	ENST00000368152	NM_001004472.1	81	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS30898.1	243	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTCTTCCT	BUFFER|p.F82F|c.246C>T|4	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF42,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000357134	.	1/1	.	.	.	.	.	.	.	.	COSM676163	1/1	PASS	ENST00000368152	Transcript	.	.	ENSG00000198965	14820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.206)	.	tolerated(0.17)	1	O10R2_HUMAN	OR10R2	HGNC	.	.	UPI000004CA1C	SNV	OR10R2,missense_variant,p.Phe81Leu,ENST00000368152,;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	243	111	118	SUCCESS
MYOC	4653	.	GRCh37	1	171605553	171605553	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	757	175	712	1	ENST00000037502.6:c.1027A>C	p.Thr343Pro	p.T343P	ENST00000037502	NM_000261.1	343	Act/Cct	0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS1297.1	1027	RADIA|SOMATICSNIPER|VARSCANS	.	GACAGTTCTGG	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF11,Pfam_domain:PF02191,SMART_domains:SM00284	.	.	ENSP00000037502	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000037502	Transcript	.	.	ENSG00000034971	7610	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.908)	.	deleterious(0.01)	.	MYOC_HUMAN	MYOC	HGNC	B4DV60_HUMAN	.	UPI00000012D6	SNV	MYOC,missense_variant,p.Thr343Pro,ENST00000037502,;	1099	713	932	SUCCESS
RGS13	6003	.	GRCh37	1	192613528	192613528	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	441	238	517	0	ENST00000391995.2:c.64A>G	p.Asn22Asp	p.N22D	ENST00000391995	NM_002927.4	22	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS1376.1	64	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAAAGTAA	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF32,Superfamily_domains:SSF48097	.	.	ENSP00000375853	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000391995	Transcript	.	.	ENSG00000127074	9995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	RGS13_HUMAN	RGS13	HGNC	.	.	UPI0000000E00	SNV	RGS13,missense_variant,p.Asn22Asp,ENST00000391995,;RGS13,missense_variant,p.Asn22Asp,ENST00000543215,;RGS13,splice_region_variant,,ENST00000462955,;RGS13,upstream_gene_variant,,ENST00000482095,;	352	517	679	SUCCESS
SPATA17	128153	.	GRCh37	1	217856682	217856682	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	347	77	391	0	ENST00000366933.4:c.374C>T	p.Ser125Leu	p.S125L	ENST00000366933	NM_138796.2	125	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS1519.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTCAGAGA	CODON|p.S125*|c.374C>G|5	.	.	hmmpanther:PTHR22706,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000355900	.	5/11	.	.	.	.	.	.	.	.	COSM216249	5/11	PASS	ENST00000366933	Transcript	.	.	ENSG00000162814	25184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	deleterious(0.01)	1	SPT17_HUMAN	SPATA17	HGNC	R4GN71_HUMAN	.	UPI00000717C2	SNV	SPATA17,missense_variant,p.Ser125Leu,ENST00000366933,;SPATA17,3_prime_UTR_variant,,ENST00000470448,;	429	391	425	SUCCESS
AJAP1	55966	.	GRCh37	1	4829928	4829928	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	13	58	0	ENST00000378190.3:c.845A>G	p.Gln282Arg	p.Q282R	ENST00000378190	NM_001042478.1	282	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS54.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCAGATCA	NONE	.	.	Pfam_domain:PF15298,hmmpanther:PTHR32422	.	.	ENSP00000367433	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	deleterious(0)	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,missense_variant,p.Gln282Arg,ENST00000378191,;AJAP1,missense_variant,p.Gln282Arg,ENST00000378190,;	1226	58	70	SUCCESS
SIGLEC1	6614	.	GRCh37	20	3684557	3684557	+	synonymous_variant	Silent	SNP	G	G	A	rs2122216	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	69	0	ENST00000344754.4:c.888C>T	p.Ala296=	p.A296=	ENST00000344754	NM_023068.3	296	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS13060.1	888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGCTGC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000341141	.	4/21	.	.	.	.	.	.	.	.	rs2122216	4/21	PASS	ENST00000344754	Transcript	.	.	ENSG00000088827	11127	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SN_HUMAN	SIGLEC1	HGNC	.	.	UPI0000049BA6	SNV	SIGLEC1,synonymous_variant,p.%3D,ENST00000344754,;SIGLEC1,synonymous_variant,p.%3D,ENST00000202578,;	888	69	35	SUCCESS
SLPI	6590	.	GRCh37	20	43882264	43882264	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	18	112	0	ENST00000338380.2:c.196G>A	p.Asp66Asn	p.D66N	ENST00000338380	NM_003064.3	66	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS13347.1	196	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCAGGAC	NONE	.	.	PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF24,Pfam_domain:PF00095,Gene3D:4.10.75.10,SMART_domains:SM00217,Superfamily_domains:SSF57256,Prints_domain:PR00003	.	.	ENSP00000342082	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000338380	Transcript	.	.	ENSG00000124107	11092	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.114)	.	tolerated(0.09)	.	SLPI_HUMAN	SLPI	HGNC	Q6LDI0_HUMAN	.	UPI0000036BB4	SNV	SLPI,missense_variant,p.Asp66Asn,ENST00000338380,;	217	112	125	SUCCESS
CABIN1	23523	.	GRCh37	22	24492014	24492014	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs193920999	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	99	0	ENST00000263119.5:c.3907G>A	p.Glu1303Lys	p.E1303K	ENST00000263119	NM_012295.3	1303	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS13823.1	3907	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	GGGGCGAGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	.	.	ENSP00000381364	.	25/37	.	.	.	.	.	.	.	.	rs193920999,COSM1178823	25/37	PASS	ENST00000398319	Transcript	.	.	ENSG00000099991	24187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.069)	.	tolerated(0.08)	0,1	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,missense_variant,p.Glu1303Lys,ENST00000398319,;CABIN1,missense_variant,p.Glu1253Lys,ENST00000405822,;CABIN1,missense_variant,p.Glu1303Lys,ENST00000263119,;CABIN1,upstream_gene_variant,,ENST00000467937,;CABIN1,downstream_gene_variant,,ENST00000496016,;	4292	99	64	SUCCESS
DGKD	8527	.	GRCh37	2	234355412	234355412	+	synonymous_variant	Silent	SNP	C	C	T	rs767446963	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	71	0	ENST00000264057.2:c.1389C>T	p.Thr463=	p.T463=	ENST00000264057	NM_152879.2	463	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS2504.1	1389	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACCGTCAC	NONE	byFrequency	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30	.	.	ENSP00000264057	.	12/30	.	.	.	.	.	.	.	.	rs767446963	12/30	PASS	ENST00000264057	Transcript	.	.	ENSG00000077044	2851	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKD_HUMAN	DGKD	HGNC	Q53SV4_HUMAN,Q53SE4_HUMAN	.	UPI000013D4AF	SNV	DGKD,synonymous_variant,p.%3D,ENST00000264057,;DGKD,synonymous_variant,p.%3D,ENST00000409813,;DGKD,upstream_gene_variant,,ENST00000480535,;DGKD,synonymous_variant,p.%3D,ENST00000430834,;DGKD,non_coding_transcript_exon_variant,,ENST00000490764,;DGKD,downstream_gene_variant,,ENST00000474488,;DGKD,upstream_gene_variant,,ENST00000465569,;	1401	71	58	SUCCESS
THADA	63892	.	GRCh37	2	43801925	43801925	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	37	105	0	ENST00000405006.4:c.1279G>T	p.Glu427Ter	p.E427*	ENST00000405006	NM_001083953.1	427	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS46268.1	1279	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTCCACAG	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387,Superfamily_domains:SSF48371	.	.	ENSP00000385995	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,stop_gained,p.Glu427Ter,ENST00000404790,;THADA,stop_gained,p.Glu137Ter,ENST00000330266,;THADA,stop_gained,p.Glu427Ter,ENST00000402360,;THADA,stop_gained,p.Glu137Ter,ENST00000415080,;THADA,stop_gained,p.Glu427Ter,ENST00000403856,;THADA,stop_gained,p.Glu427Ter,ENST00000405006,;THADA,stop_gained,p.Glu427Ter,ENST00000405975,;THADA,upstream_gene_variant,,ENST00000407351,;THADA,stop_gained,p.Glu10Ter,ENST00000402796,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,intron_variant,,ENST00000474159,;	1631	105	161	SUCCESS
THADA	63892	.	GRCh37	2	43801926	43801926	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	37	106	0	ENST00000405006.4:c.1278G>T	p.Val426=	p.V426=	ENST00000405006	NM_001083953.1	426	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46268.1	1278	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCACAGT	NONE	.	.	hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387,Superfamily_domains:SSF48371	.	.	ENSP00000385995	.	11/38	.	.	.	.	.	.	.	.	.	11/38	PASS	ENST00000405006	Transcript	.	.	ENSG00000115970	19217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THADA_HUMAN	THADA	HGNC	Q6YHU4_HUMAN	.	UPI00001C0473	SNV	THADA,synonymous_variant,p.%3D,ENST00000404790,;THADA,synonymous_variant,p.%3D,ENST00000330266,;THADA,synonymous_variant,p.%3D,ENST00000402360,;THADA,synonymous_variant,p.%3D,ENST00000415080,;THADA,synonymous_variant,p.%3D,ENST00000403856,;THADA,synonymous_variant,p.%3D,ENST00000405006,;THADA,synonymous_variant,p.%3D,ENST00000405975,;THADA,upstream_gene_variant,,ENST00000407351,;THADA,synonymous_variant,p.%3D,ENST00000402796,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,intron_variant,,ENST00000474159,;	1630	106	161	SUCCESS
ANKRD53	79998	.	GRCh37	2	71212146	71212146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	15	56	0	ENST00000360589.3:c.1309C>T	p.His437Tyr	p.H437Y	ENST00000360589	NM_001115116.1	437	Cac/Tac	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS46321.1	1309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCACACA	NONE	.	.	hmmpanther:PTHR24160	.	.	ENSP00000353796	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000360589	Transcript	.	.	ENSG00000144031	25691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.77)	.	ANR53_HUMAN	ANKRD53	HGNC	.	.	UPI000013D952	SNV	ANKRD53,missense_variant,p.His403Tyr,ENST00000457410,;ANKRD53,missense_variant,p.His437Tyr,ENST00000360589,;ANKRD53,3_prime_UTR_variant,,ENST00000272421,;ANKRD53,3_prime_UTR_variant,,ENST00000441349,;AC007040.11,intron_variant,,ENST00000606025,;TEX261,downstream_gene_variant,,ENST00000272438,;TEX261,downstream_gene_variant,,ENST00000466731,;AC007040.11,intron_variant,,ENST00000453130,;TEX261,downstream_gene_variant,,ENST00000489894,;TEX261,downstream_gene_variant,,ENST00000433258,;TEX261,downstream_gene_variant,,ENST00000478068,;ANKRD53,downstream_gene_variant,,ENST00000496088,;ANKRD53,downstream_gene_variant,,ENST00000483334,;ANKRD53,downstream_gene_variant,,ENST00000460927,;	1343	56	80	SUCCESS
ELMOD3	84173	.	GRCh37	2	85604495	85604495	+	synonymous_variant	Silent	SNP	C	C	T	rs142807269	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	33	0	ENST00000393852.4:c.636C>T	p.Gly212=	p.G212=	ENST00000393852	NM_001135023.1	212	ggC/ggT	0	T:0.0016	T:0.0008	.	T:0	.	T	G	protein_coding	YES	CCDS1973.1	636	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGCAGG	NONE	byCluster|by1000G	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF2,hmmpanther:PTHR12771,Pfam_domain:PF04727	T:0	T:0	ENSP00000318264	T:0	9/11	.	.	.	.	.	.	.	.	rs142807269	9/11	PASS	ENST00000315658	Transcript	.	T:0.0002	ENSG00000115459	26158	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ELMD3_HUMAN	ELMOD3	HGNC	E9PI96_HUMAN,D3YTJ5_HUMAN,B8ZZT8_HUMAN	.	UPI0000072463	SNV	ELMOD3,synonymous_variant,p.%3D,ENST00000409344,;ELMOD3,synonymous_variant,p.%3D,ENST00000428955,;ELMOD3,synonymous_variant,p.%3D,ENST00000409013,;ELMOD3,synonymous_variant,p.%3D,ENST00000409890,;ELMOD3,synonymous_variant,p.%3D,ENST00000315658,;ELMOD3,synonymous_variant,p.%3D,ENST00000393852,;RNU7-162P,upstream_gene_variant,,ENST00000516669,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000496957,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000490508,;ELMOD3,synonymous_variant,p.%3D,ENST00000446464,;ELMOD3,synonymous_variant,p.%3D,ENST00000444108,;ELMOD3,3_prime_UTR_variant,,ENST00000429764,;ELMOD3,3_prime_UTR_variant,,ENST00000410106,;ELMOD3,3_prime_UTR_variant,,ENST00000414593,;ELMOD3,intron_variant,,ENST00000423095,;ELMOD3,downstream_gene_variant,,ENST00000488150,;	895	33	44	SUCCESS
ACPP	0	.	GRCh37	3	132061467	132061467	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	9	87	0	ENST00000351273.7:c.627C>A	p.Val209=	p.V209=	ENST00000351273	NM_001134194.1	209	gtC/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS46916.1	627	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCTACGA	NONE	.	.	hmmpanther:PTHR11567:SF32,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254	.	.	ENSP00000323036	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,synonymous_variant,p.%3D,ENST00000351273,;ACPP,synonymous_variant,p.%3D,ENST00000475741,;ACPP,synonymous_variant,p.%3D,ENST00000336375,;ACPP,downstream_gene_variant,,ENST00000495911,;ACPP,non_coding_transcript_exon_variant,,ENST00000512463,;	677	87	56	SUCCESS
NLGN1	22871	.	GRCh37	3	173998485	173998485	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	124	0	ENST00000457714.1:c.1864T>G	p.Tyr622Asp	p.Y622D	ENST00000457714	NM_014932.3	622	Tat/Gat	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS3222.1	1864	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGTATACC	NONE	.	.	hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	.	.	ENSP00000392500	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000457714	Transcript	.	.	ENSG00000169760	14291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.07)	.	NLGN1_HUMAN	NLGN1	HGNC	.	.	UPI0000072F54	SNV	NLGN1,missense_variant,p.Tyr662Asp,ENST00000401917,;NLGN1,missense_variant,p.Tyr622Asp,ENST00000457714,;NLGN1,missense_variant,p.Tyr622Asp,ENST00000361589,;NLGN1,missense_variant,p.Tyr622Asp,ENST00000545397,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;	2293	124	127	SUCCESS
TOPAZ1	375337	.	GRCh37	3	44286265	44286265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	22	96	0	ENST00000309765.4:c.2267C>A	p.Ala756Asp	p.A756D	ENST00000309765	NM_001145030.1	756	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS46809.1	2267	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGCTAGTT	NONE	.	.	.	.	.	ENSP00000310303	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000309765	Transcript	.	.	ENSG00000173769	24746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	.	tolerated(0.16)	.	TOPZ1_HUMAN	TOPAZ1	HGNC	.	.	UPI000047FF75	SNV	TOPAZ1,missense_variant,p.Ala756Asp,ENST00000309765,;	2435	96	107	SUCCESS
CCNA2	890	.	GRCh37	4	122743628	122743628	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	11	134	0	ENST00000274026.5:c.387T>G	p.Asn129Lys	p.N129K	ENST00000274026	NM_001237.3	129	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS3723.1	387	MUTECT|MUSE|VARSCANS	.	GCTGAATTAAA	NONE	.	.	hmmpanther:PTHR10177:SF69,hmmpanther:PTHR10177,PIRSF_domain:PIRSF001771	.	.	ENSP00000274026	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000274026	Transcript	.	.	ENSG00000145386	1578	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.007)	.	tolerated(0.4)	.	CCNA2_HUMAN	CCNA2	HGNC	.	.	UPI000013D9E8	SNV	CCNA2,missense_variant,p.Asn129Lys,ENST00000274026,;BBS7,downstream_gene_variant,,ENST00000264499,;BBS7,downstream_gene_variant,,ENST00000507814,;	691	134	114	SUCCESS
USP38	84640	.	GRCh37	4	144135474	144135474	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	113	0	ENST00000307017.4:c.2345A>G	p.Asp782Gly	p.D782G	ENST00000307017	NM_032557.5	782	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3758.1	2345	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGACAATG	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF386,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000303434	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000307017	Transcript	.	.	ENSG00000170185	20067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.967)	.	deleterious(0)	.	UBP38_HUMAN	USP38	HGNC	B3KSB9_HUMAN	.	UPI0000047AF9	SNV	USP38,missense_variant,p.Asp782Gly,ENST00000510377,;USP38,missense_variant,p.Asp782Gly,ENST00000307017,;USP38,3_prime_UTR_variant,,ENST00000511739,;	2851	113	108	SUCCESS
SPOCK3	50859	.	GRCh37	4	167675697	167675697	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	11	80	0	ENST00000357154.3:c.902C>A	p.Ser301Tyr	p.S301Y	ENST00000357154	NM_016950.2	301	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS54817.1	902	RADIA|MUTECT|MUSE|VARSCANS	.	TATTAGATATT	NONE	.	.	hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4,Pfam_domain:PF10591,Gene3D:1.10.238.10,Superfamily_domains:SSF57610,Superfamily_domains:SSF47473	.	.	ENSP00000349677	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000357154	Transcript	.	.	ENSG00000196104	13565	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	TICN3_HUMAN	SPOCK3	HGNC	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN	.	UPI000004BA60	SNV	SPOCK3,missense_variant,p.Ser298Tyr,ENST00000512648,;SPOCK3,missense_variant,p.Ser301Tyr,ENST00000357154,;SPOCK3,missense_variant,p.Ser301Tyr,ENST00000511531,;SPOCK3,missense_variant,p.Ser298Tyr,ENST00000357545,;SPOCK3,missense_variant,p.Ser301Tyr,ENST00000506886,;SPOCK3,missense_variant,p.Ser298Tyr,ENST00000511269,;SPOCK3,missense_variant,p.Ser250Tyr,ENST00000421836,;SPOCK3,missense_variant,p.Ser258Tyr,ENST00000510741,;SPOCK3,missense_variant,p.Ser169Tyr,ENST00000535728,;SPOCK3,missense_variant,p.Ser203Tyr,ENST00000541637,;SPOCK3,missense_variant,p.Ser181Tyr,ENST00000541354,;SPOCK3,missense_variant,p.Ser203Tyr,ENST00000512681,;SPOCK3,missense_variant,p.Ser205Tyr,ENST00000534949,;SPOCK3,missense_variant,p.Ser301Tyr,ENST00000502330,;SPOCK3,missense_variant,p.Ser298Tyr,ENST00000504953,;SPOCK3,downstream_gene_variant,,ENST00000510403,;SPOCK3,non_coding_transcript_exon_variant,,ENST00000507137,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;SPOCK3,downstream_gene_variant,,ENST00000515143,;	1040	80	87	SUCCESS
GALNTL6	442117	.	GRCh37	4	173734692	173734692	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	16	73	0	ENST00000506823.1:c.741C>G	p.Asn247Lys	p.N247K	ENST00000506823	NM_001034845.2	247	aaC/aaG	0	.	.	.	.	.	G	N/K	protein_coding	YES	CCDS34104.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGACCAAAT	NONE	.	.	Superfamily_domains:SSF53448,Pfam_domain:PF00535,Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34	.	.	ENSP00000423313	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000506823	Transcript	.	.	ENSG00000174473	33844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.36)	.	deleterious(0.01)	.	GLTL6_HUMAN	GALNTL6	HGNC	E5D8G0_HUMAN	.	UPI000058EB5C	SNV	GALNTL6,missense_variant,p.Asn230Lys,ENST00000508122,;GALNTL6,missense_variant,p.Asn247Lys,ENST00000506823,;	1398	73	82	SUCCESS
PCDHA3	56145	.	GRCh37	5	140182420	140182420	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	48	0	ENST00000522353.2:c.1638C>A	p.Gly546=	p.G546=	ENST00000522353	NM_018906.2	546	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS54915.1	1638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCAGCAA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF93,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000429808	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000522353	Transcript	.	.	ENSG00000255408	8669	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA3_HUMAN	PCDHA3	HGNC	.	.	UPI00001273CB	SNV	PCDHA3,synonymous_variant,p.%3D,ENST00000532566,;PCDHA3,synonymous_variant,p.%3D,ENST00000522353,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA2,intron_variant,,ENST00000520672,;PCDHA4,upstream_gene_variant,,ENST00000530339,;PCDHA4,upstream_gene_variant,,ENST00000356878,;PCDHA4,upstream_gene_variant,,ENST00000512229,;	1638	48	50	SUCCESS
KIAA0947	0	.	GRCh37	5	5463128	5463128	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	39	159	0	ENST00000296564.7:c.3681A>G	p.Glu1227=	p.E1227=	ENST00000296564	NM_015325.2	1227	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS47187.1	3681	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAAACACT	NONE	.	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	.	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,synonymous_variant,p.%3D,ENST00000296564,;	3903	159	156	SUCCESS
OCLN	100506658	.	GRCh37	5	68805179	68805179	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	27	121	0	ENST00000355237.2:c.262G>T	p.Ala88Ser	p.A88S	ENST00000355237	NM_002538.3	88	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS4006.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTTGCCTGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,Pfam_domain:PF01284,PIRSF_domain:PIRSF005993,Superfamily_domains:SSF103473	.	.	ENSP00000347379	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000355237	Transcript	1	.	ENSG00000197822	8104	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.03)	.	OCLN_HUMAN	OCLN	HGNC	.	.	UPI00000341F0	SNV	OCLN,missense_variant,p.Ala88Ser,ENST00000396442,;OCLN,missense_variant,p.Ala88Ser,ENST00000355237,;OCLN,missense_variant,p.Ala88Ser,ENST00000380766,;OCLN,intron_variant,,ENST00000542132,;OCLN,intron_variant,,ENST00000538151,;GUSBP3,intron_variant,,ENST00000380759,;	698	121	152	SUCCESS
ZNF76	7629	.	GRCh37	6	35255438	35255438	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	95	1	ENST00000373953.3:c.248G>A	p.Ser83Asn	p.S83N	ENST00000373953	NM_003427.3	83	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS4801.1	248	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGCACCC	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448	.	.	ENSP00000363064	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000373953	Transcript	.	.	ENSG00000065029	13149	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.14)	.	ZNF76_HUMAN	ZNF76	HGNC	E7EX64_HUMAN	.	UPI000013C41C	SNV	ZNF76,missense_variant,p.Ser83Asn,ENST00000469195,;ZNF76,missense_variant,p.Ser57Asn,ENST00000440666,;ZNF76,missense_variant,p.Ser83Asn,ENST00000339411,;ZNF76,missense_variant,p.Ser83Asn,ENST00000373953,;ZNF76,missense_variant,p.Ser83Asn,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000486891,;ZNF76,non_coding_transcript_exon_variant,,ENST00000491400,;ZNF76,non_coding_transcript_exon_variant,,ENST00000460229,;ZNF76,downstream_gene_variant,,ENST00000484932,;ZNF76,upstream_gene_variant,,ENST00000479226,;	514	96	84	SUCCESS
CDKN1A	1026	.	GRCh37	6	36652098	36652098	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	58	0	ENST00000244741.5:c.222del	p.Lys75SerfsTer73	p.K75Sfs*73	ENST00000244741	NM_000389.4	74	Ccc/cc	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS4824.1	220	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCTGCCCAAG	NONE	.	.	hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF16,Gene3D:1jsuC00	.	.	ENSP00000384849	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	deletion	CDKN1A,frameshift_variant,p.Lys75SerfsTer73,ENST00000244741,;CDKN1A,frameshift_variant,p.Lys75SerfsTer73,ENST00000373711,;CDKN1A,frameshift_variant,p.Lys109SerfsTer73,ENST00000448526,;CDKN1A,frameshift_variant,p.Lys75SerfsTer73,ENST00000405375,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	455	58	94	SUCCESS
MRPL2	51069	.	GRCh37	6	43026951	43026951	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	34	120	0	ENST00000388752.3:c.96+73G>C		p.*32*	ENST00000388752	NM_015950.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34454.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCGCCTCGC	NONE	.	.	.	.	.	ENSP00000373404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000388752	Transcript	.	.	ENSG00000112651	14056	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM02_HUMAN	MRPL2	HGNC	.	.	UPI000006FF26	SNV	MRPL2,missense_variant,p.Ala57Pro,ENST00000487429,;MRPL2,intron_variant,,ENST00000468957,;MRPL2,intron_variant,,ENST00000489623,;MRPL2,intron_variant,,ENST00000388752,;MRPL2,intron_variant,,ENST00000230413,;KLC4,upstream_gene_variant,,ENST00000470728,;KLC4,upstream_gene_variant,,ENST00000479388,;KLC4,upstream_gene_variant,,ENST00000453940,;KLC4,upstream_gene_variant,,ENST00000394056,;KLC4,upstream_gene_variant,,ENST00000259708,;KLC4,upstream_gene_variant,,ENST00000481888,;KLC4,upstream_gene_variant,,ENST00000479632,;KLC4,upstream_gene_variant,,ENST00000472792,;KLC4,upstream_gene_variant,,ENST00000458460,;KLC4,upstream_gene_variant,,ENST00000347162,;KLC4,upstream_gene_variant,,ENST00000394058,;KLC4,upstream_gene_variant,,ENST00000460283,;KLC4,5_prime_UTR_variant,,ENST00000467906,;MRPL2,intron_variant,,ENST00000470667,;MRPL2,intron_variant,,ENST00000491898,;MRPL2,intron_variant,,ENST00000480286,;MRPL2,upstream_gene_variant,,ENST00000485654,;KLC4,upstream_gene_variant,,ENST00000481499,;KLC4,upstream_gene_variant,,ENST00000472172,;	.	120	158	SUCCESS
EYS	346007	.	GRCh37	6	66204853	66204853	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	63	121	0	ENST00000370616.2:c.451G>T	p.Val151Phe	p.V151F	ENST00000370616		151	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS47445.1	451	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAACTGTGA	NONE	.	.	.	.	.	ENSP00000424243	.	4/43	.	.	.	.	.	.	.	.	.	4/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.448)	.	deleterious_low_confidence(0.01)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.Val151Phe,ENST00000342421,;EYS,missense_variant,p.Val151Phe,ENST00000393380,;EYS,missense_variant,p.Val151Phe,ENST00000370616,;EYS,missense_variant,p.Val151Phe,ENST00000503581,;EYS,missense_variant,p.Val151Phe,ENST00000370621,;EYS,missense_variant,p.Val151Phe,ENST00000370618,;EYS,missense_variant,p.Val48Phe,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;	989	121	150	SUCCESS
BAI3	0	.	GRCh37	6	70070994	70070994	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	28	78	0	ENST00000370598.1:c.3829T>A	p.Leu1277Met	p.L1277M	ENST00000370598	NM_001704.2	1277	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS4968.1	3829	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAATTGCGG	NONE	.	.	.	.	.	ENSP00000359630	.	29/32	.	.	.	.	.	.	.	.	.	29/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.33)	.	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,missense_variant,p.Leu241Met,ENST00000546190,;BAI3,missense_variant,p.Leu483Met,ENST00000238918,;BAI3,missense_variant,p.Leu1277Met,ENST00000370598,;	4650	78	92	SUCCESS
EPHA7	2045	.	GRCh37	6	93955017	93955017	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	41	0	ENST00000369303.4:c.2881G>T	p.Glu961Ter	p.E961*	ENST00000369303	NM_004440.3	961	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5031.1	2881	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCAATAG	NONE	.	.	PROSITE_profiles:PS50105,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF47769	.	.	ENSP00000358309	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,stop_gained,p.Glu961Ter,ENST00000369303,;	3066	41	50	SUCCESS
GPER1	2852	.	GRCh37	7	1131626	1131626	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1179693461	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	37	120	0	ENST00000297469.3:c.262C>T	p.Arg88Cys	p.R88C	ENST00000297469	NM_001505.2	88	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS5322.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCGCGAG	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24226,hmmpanther:PTHR24226:SF2,PROSITE_profiles:PS50262	.	.	ENSP00000380281	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397092	Transcript	.	.	ENSG00000164850	4485	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.1)	.	GPER1_HUMAN	GPER1	HGNC	C9J3W2_HUMAN	.	UPI00000503F2	SNV	GPER1,missense_variant,p.Arg88Cys,ENST00000297469,;GPER1,missense_variant,p.Arg88Cys,ENST00000397092,;GPER1,missense_variant,p.Arg88Cys,ENST00000397088,;GPER1,missense_variant,p.Arg88Cys,ENST00000401670,;C7orf50,intron_variant,,ENST00000397100,;C7orf50,intron_variant,,ENST00000357429,;C7orf50,intron_variant,,ENST00000397098,;C7orf50,intron_variant,,ENST00000491163,;GPER1,downstream_gene_variant,,ENST00000413368,;C7orf50,intron_variant,,ENST00000488073,;	1146	120	114	SUCCESS
ANKRD7	56311	.	GRCh37	7	117879966	117879966	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	44	0	ENST00000265224.4:c.716G>A	p.Arg239Lys	p.R239K	ENST00000265224	NM_019644.3	239	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS43638.1	716	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGATACC	NONE	.	.	hmmpanther:PTHR24152,hmmpanther:PTHR24152:SF1	.	.	ENSP00000265224	.	6/7	.	.	.	.	.	.	.	.	COSM1084511	6/7	PASS	ENST00000265224	Transcript	.	.	ENSG00000106013	18588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0)	.	tolerated(1)	1	ANKR7_HUMAN	ANKRD7	HGNC	Q9UPM1_HUMAN	.	UPI0000E826A8	SNV	ANKRD7,splice_acceptor_variant,,ENST00000417525,;ANKRD7,missense_variant,p.Arg186Lys,ENST00000433239,;ANKRD7,missense_variant,p.Arg259Lys,ENST00000357099,;ANKRD7,missense_variant,p.Arg239Lys,ENST00000265224,;ANKRD7,non_coding_transcript_exon_variant,,ENST00000477532,;ANKRD7,non_coding_transcript_exon_variant,,ENST00000490445,;	871	44	51	SUCCESS
CCDC136	64753	.	GRCh37	7	128454751	128454751	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	49	219	0	ENST00000297788.4:c.2823T>C	p.Asp941=	p.D941=	ENST00000297788	NM_022742.4	941	gaT/gaC	0	.	.	.	.	.	C	D	protein_coding	YES	CCDS47704.1	2823	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGATGAGCA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	.	.	ENSP00000297788	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000297788	Transcript	.	.	ENSG00000128596	22225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC136_HUMAN	CCDC136	HGNC	C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN	.	UPI0000E445DE	SNV	CCDC136,synonymous_variant,p.%3D,ENST00000297788,;CCDC136,synonymous_variant,p.%3D,ENST00000494552,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000378685,;CCDC136,intron_variant,,ENST00000464672,;CCDC136,non_coding_transcript_exon_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000460941,;	3190	220	249	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138764367	138764367	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	26	118	0	ENST00000242351.5:c.1320T>G	p.Thr440=	p.T440=	ENST00000242351	NM_020119.3	440	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS5851.1	1320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGAAGTTAT	NONE	.	.	hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	.	.	ENSP00000242351	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,synonymous_variant,p.%3D,ENST00000471652,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000464606,;ZC3HAV1,synonymous_variant,p.%3D,ENST00000242351,;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;	1637	118	102	SUCCESS
SLC37A3	84255	.	GRCh37	7	140082352	140082352	+	5_prime_UTR_variant	5'UTR	DEL	T	T	-	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	29	123	0	ENST00000326232.9:c.-26del		p.*9*	ENST00000326232	NM_207113.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5859.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCACCTTTGAC	NONE	.	.	.	.	.	ENSP00000321498	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000326232	Transcript	.	.	ENSG00000157800	20651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPX3_HUMAN	SLC37A3	HGNC	F8WF28_HUMAN	.	UPI0000141890	deletion	SLC37A3,5_prime_UTR_variant,,ENST00000469193,;SLC37A3,5_prime_UTR_variant,,ENST00000429996,;SLC37A3,5_prime_UTR_variant,,ENST00000326232,;SLC37A3,5_prime_UTR_variant,,ENST00000340308,;SLC37A3,5_prime_UTR_variant,,ENST00000491505,;SLC37A3,5_prime_UTR_variant,,ENST00000447932,;RNA5SP248,downstream_gene_variant,,ENST00000365602,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000461089,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000495257,;SLC37A3,5_prime_UTR_variant,,ENST00000477571,;SLC37A3,5_prime_UTR_variant,,ENST00000490760,;SLC37A3,5_prime_UTR_variant,,ENST00000462881,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000464865,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000460560,;SLC37A3,upstream_gene_variant,,ENST00000467233,;	179	123	144	SUCCESS
GLI3	2737	.	GRCh37	7	42005709	42005709	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765236732	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	477	145	535	0	ENST00000395925.3:c.2962G>A	p.Gly988Arg	p.G988R	ENST00000395925	NM_000168.5	988	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5465.1	2962	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCCGTAGC	NONE	.	.	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	.	.	ENSP00000379258	.	15/15	.	.	.	.	.	.	.	.	rs765236732	15/15	PASS	ENST00000395925	Transcript	.	.	ENSG00000106571	4319	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.26)	.	GLI3_HUMAN	GLI3	HGNC	C9J9N4_HUMAN	.	UPI000020EE4C	SNV	GLI3,missense_variant,p.Gly988Arg,ENST00000395925,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	3047	535	622	SUCCESS
SFTPC	6440	.	GRCh37	8	22021530	22021530	+	synonymous_variant	Silent	SNP	C	C	T	rs529959941	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	34	141	0	ENST00000318561.3:c.570C>T	p.Gly190=	p.G190=	ENST00000318561	NM_001172410.1	190	ggC/ggT	0	.	T:0	.	T:0	.	T	G	protein_coding	YES	CCDS43722.1	570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCGAGGT	NONE	byFrequency|by1000G	.	PROSITE_profiles:PS50869,hmmpanther:PTHR10800,Pfam_domain:PF04089,SMART_domains:SM00019,SMART_domains:SM01039	T:0	.	ENSP00000316152	T:0	5/6	.	.	.	.	.	.	.	.	rs529959941	5/6	common_in_exac	ENST00000318561	Transcript	1	T:0.0010	ENSG00000168484	10802	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0051	.	.	PSPC_HUMAN	SFTPC	HGNC	.	.	UPI0000140371	SNV	SFTPC,synonymous_variant,p.%3D,ENST00000521315,;SFTPC,synonymous_variant,p.%3D,ENST00000524255,;SFTPC,synonymous_variant,p.%3D,ENST00000318561,;SFTPC,3_prime_UTR_variant,,ENST00000437090,;SFTPC,intron_variant,,ENST00000520605,;SFTPC,downstream_gene_variant,,ENST00000522109,;SFTPC,downstream_gene_variant,,ENST00000518615,;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000306385,;BMP1,upstream_gene_variant,,ENST00000306349,;BMP1,upstream_gene_variant,,ENST00000397816,;SFTPC,downstream_gene_variant,,ENST00000523296,;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,downstream_gene_variant,,ENST00000524350,;SFTPC,downstream_gene_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000522880,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000520970,;SFTPC,downstream_gene_variant,,ENST00000522630,;BMP1,upstream_gene_variant,,ENST00000520982,;	744	141	115	SUCCESS
ADAM18	8749	.	GRCh37	8	39537657	39537657	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	106	0	ENST00000265707.5:c.1733G>T	p.Cys578Phe	p.C578F	ENST00000265707	NM_014237.2	578	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS6113.1	1733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATGTGTAT	NONE	.	.	hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Pfam_domain:PF08516,SMART_domains:SM00608	.	.	ENSP00000265707	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000265707	Transcript	.	.	ENSG00000168619	196	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ADA18_HUMAN	ADAM18	HGNC	Q0VAI3_HUMAN,E5RK96_HUMAN	.	UPI00001254D7	SNV	ADAM18,missense_variant,p.Cys578Phe,ENST00000265707,;ADAM18,missense_variant,p.Cys554Phe,ENST00000379866,;ADAM18,5_prime_UTR_variant,,ENST00000541111,;ADAM18,upstream_gene_variant,,ENST00000523755,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	1778	106	109	SUCCESS
ARFGEF1	10565	.	GRCh37	8	68208769	68208769	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	83	0	ENST00000262215.3:c.536A>G	p.Tyr179Cys	p.Y179C	ENST00000262215	NM_006421.4	179	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6199.1	536	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTAACAT	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137	.	.	ENSP00000262215	.	5/39	.	.	.	.	.	.	.	.	.	5/39	PASS	ENST00000262215	Transcript	.	.	ENSG00000066777	15772	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	BIG1_HUMAN	ARFGEF1	HGNC	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN	.	UPI000013D275	SNV	ARFGEF1,missense_variant,p.Tyr179Cys,ENST00000262215,;ARFGEF1,downstream_gene_variant,,ENST00000519436,;	926	83	85	SUCCESS
MAPKAP1	79109	.	GRCh37	9	128434794	128434794	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	24	137	1	ENST00000265960.3:c.60C>T	p.Thr20=	p.T20=	ENST00000265960	NM_001006617.1	20	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS35140.1	60	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGGTCAC	NONE	.	.	Pfam_domain:PF05422,hmmpanther:PTHR13335	.	.	ENSP00000265960	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000265960	Transcript	.	.	ENSG00000119487	18752	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIN1_HUMAN	MAPKAP1	HGNC	B1AMB1_HUMAN,B1AMA6_HUMAN	.	UPI00000372F6	SNV	MAPKAP1,synonymous_variant,p.%3D,ENST00000373498,;MAPKAP1,synonymous_variant,p.%3D,ENST00000433483,;MAPKAP1,synonymous_variant,p.%3D,ENST00000350766,;MAPKAP1,synonymous_variant,p.%3D,ENST00000394060,;MAPKAP1,synonymous_variant,p.%3D,ENST00000373496,;MAPKAP1,synonymous_variant,p.%3D,ENST00000265960,;MAPKAP1,synonymous_variant,p.%3D,ENST00000373511,;MAPKAP1,intron_variant,,ENST00000373503,;MAPKAP1,intron_variant,,ENST00000427078,;MAPKAP1,intron_variant,,ENST00000394063,;MAPKAP1,upstream_gene_variant,,ENST00000448439,;	393	138	122	SUCCESS
ZDHHC12	84885	.	GRCh37	9	131484347	131484347	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	20	93	0	ENST00000372663.4:c.256C>G	p.Gln86Glu	p.Q86E	ENST00000372663	NM_032799.4	86	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS6909.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTGCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22883:SF33,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000361748	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000372663	Transcript	.	.	ENSG00000160446	19159	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	tolerated(0.42)	.	ZDH12_HUMAN	ZDHHC12	HGNC	.	.	UPI000013E086	SNV	ZDHHC12,missense_variant,p.Gln100Glu,ENST00000372667,;ZDHHC12,missense_variant,p.Gln141Glu,ENST00000406904,;ZDHHC12,missense_variant,p.Gln86Glu,ENST00000372672,;ZDHHC12,missense_variant,p.Gln86Glu,ENST00000372663,;ZDHHC12,missense_variant,p.Gln86Glu,ENST00000452105,;PKN3,downstream_gene_variant,,ENST00000291906,;RP11-545E17.3,upstream_gene_variant,,ENST00000443631,;ZDHHC12,non_coding_transcript_exon_variant,,ENST00000467312,;PKN3,downstream_gene_variant,,ENST00000483521,;PKN3,downstream_gene_variant,,ENST00000485301,;	269	93	101	SUCCESS
IFNA4	3441	.	GRCh37	9	21187060	21187060	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	31	204	1	ENST00000421715.1:c.471G>A	p.Lys157=	p.K157=	ENST00000421715	NM_021068.2	157	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS6498.1	471	RADIA|MUTECT|MUSE|VARSCANS	.	TATTTCTTCTC	NONE	.	.	Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,PROSITE_patterns:PS00252,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29	.	.	ENSP00000412897	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000421715	Transcript	.	.	ENSG00000236637	5425	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IFNA4_HUMAN	IFNA4	HGNC	Q9UMJ2_HUMAN	.	UPI000002BA77	SNV	IFNA4,synonymous_variant,p.%3D,ENST00000421715,;IFNWP9,downstream_gene_variant,,ENST00000448683,;	539	205	213	SUCCESS
NXF4	55999	.	GRCh37	X	101826179	101826179	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	179	58	213	0	ENST00000360035.2:n.3319G>T		p.*1107*	ENST00000360035				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTGACCAG	NONE	.	.	.	.	.	.	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000360035	Transcript	.	.	ENSG00000196970	8074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NXF4	HGNC	.	.	.	SNV	NXF4,non_coding_transcript_exon_variant,,ENST00000360035,;NXF4,non_coding_transcript_exon_variant,,ENST00000416098,;	3319	213	238	SUCCESS
RBMXL3	139804	.	GRCh37	X	114425196	114425196	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs12399211	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	121	116	0	ENST00000424776.3:c.1192G>A	p.Asp398Asn	p.D398N	ENST00000424776	NM_001145346.1	398	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS55478.1	1192	RADIA|MUTECT|MUSE	.	CGCCCGACGCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF325	.	.	ENSP00000417451	.	1/1	.	.	.	.	.	.	.	.	rs12399211,COSM4156535	1/1	common_in_exac	ENST00000424776	Transcript	.	.	ENSG00000175718	26859	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	possibly_damaging(0.555)	.	deleterious_low_confidence(0)	0,1	RMXL3_HUMAN	RBMXL3	HGNC	.	.	UPI0001932819	SNV	RBMXL3,missense_variant,p.Asp398Asn,ENST00000424776,;LRCH2,intron_variant,,ENST00000538422,;LRCH2,intron_variant,,ENST00000317135,;	1234	116	231	SUCCESS
CXorf22	0	.	GRCh37	X	35988970	35988970	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs17852470	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	567	150	654	0	ENST00000297866.5:c.1900C>T	p.His634Tyr	p.H634Y	ENST00000297866	NM_152632.3	634	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS14237.2	1900	RADIA|MUTECT|MUSE	.	AATTACATGAA	NONE	.	.	hmmpanther:PTHR23053	.	.	ENSP00000297866	.	11/16	.	.	.	.	.	.	.	.	rs17852470	11/16	PASS	ENST00000297866	Transcript	.	.	ENSG00000165164	28546	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.897)	.	deleterious(0)	.	CX022_HUMAN	CXorf22	HGNC	.	.	UPI000022DD27	SNV	CXorf22,missense_variant,p.His634Tyr,ENST00000297866,;CXorf22,missense_variant,p.His634Tyr,ENST00000493930,;	1966	655	717	SUCCESS
SYTL5	94122	.	GRCh37	X	37913602	37913602	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	40	172	0	ENST00000297875.2:c.256C>T	p.Leu86=	p.L86=	ENST00000297875	NM_001163335.1	86	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS55399.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACTGAGG	NONE	.	.	Superfamily_domains:SSF57903,Gene3D:3.30.40.10,Pfam_domain:PF02318,hmmpanther:PTHR10024:SF13,hmmpanther:PTHR10024,PROSITE_profiles:PS50916	.	.	ENSP00000395220	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000456733	Transcript	.	.	ENSG00000147041	15589	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTL5_HUMAN	SYTL5	HGNC	.	.	UPI0000F0599F	SNV	SYTL5,synonymous_variant,p.%3D,ENST00000357972,;SYTL5,synonymous_variant,p.%3D,ENST00000297875,;SYTL5,synonymous_variant,p.%3D,ENST00000456733,;TM4SF2,intron_variant,,ENST00000465127,;	612	173	165	SUCCESS
HUWE1	10075	.	GRCh37	X	53579402	53579402	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	222	58	284	0	ENST00000262854.6:c.8751C>A	p.Ser2917Arg	p.S2917R	ENST00000262854	NM_031407.5	2917	agC/agA	0	.	.	.	.	.	T	S/R	protein_coding	YES	CCDS35301.1	8751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGAGCTGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	62/83	.	.	.	.	.	.	.	.	.	62/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.307)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Ser2917Arg,ENST00000342160,;HUWE1,missense_variant,p.Ser1951Arg,ENST00000427052,;HUWE1,missense_variant,p.Ser2917Arg,ENST00000262854,;HUWE1,upstream_gene_variant,,ENST00000426907,;MIR98,downstream_gene_variant,,ENST00000606724,;MIRLET7F2,downstream_gene_variant,,ENST00000385277,;HUWE1,upstream_gene_variant,,ENST00000468322,;HUWE1,upstream_gene_variant,,ENST00000474288,;	9209	284	280	SUCCESS
SLC7A3	84889	.	GRCh37	X	70146876	70146876	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	169	36	196	0	ENST00000298085.4:c.1302G>T	p.Gln434His	p.Q434H	ENST00000298085	NM_001048164.2	434	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS14404.1	1302	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCCTGATC	NONE	.	.	hmmpanther:PTHR11785:SF209,hmmpanther:PTHR11785,TIGRFAM_domain:TIGR00906,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	.	.	ENSP00000363417	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000374299	Transcript	.	.	ENSG00000165349	11061	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.072)	.	tolerated(0.05)	.	CTR3_HUMAN	SLC7A3	HGNC	.	.	UPI0000049F96	SNV	SLC7A3,missense_variant,p.Gln434His,ENST00000374299,;SLC7A3,missense_variant,p.Gln434His,ENST00000298085,;	1447	197	205	SUCCESS
MAGEE2	139599	.	GRCh37	X	75004916	75004916	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-XR-A8TD-01	TCGA-XR-A8TD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	296	68	358	0	ENST00000373359.2:c.-30T>C		p.*10*	ENST00000373359	NM_138703.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14431.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGAGATCA	NONE	.	.	.	.	.	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,5_prime_UTR_variant,,ENST00000373359,;	164	358	364	SUCCESS
MUC5B	727897	.	GRCh37	11	1264386	1264386	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	8	145	0	ENST00000529681.1:c.6276C>A	p.Pro2092=	p.P2092=	ENST00000529681	NM_002458.2	2092	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS44515.2	6276	RADIA|MUTECT|VARSCANS	.	ACCCCCTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	.	.	ENSP00000436812	.	31/49	.	.	.	.	.	.	.	.	.	31/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,synonymous_variant,p.%3D,ENST00000529681,;MUC5B,synonymous_variant,p.%3D,ENST00000447027,;RP11-532E4.2,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	6334	145	75	SUCCESS
MUC15	143662	.	GRCh37	11	26582625	26582625	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs560016592	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	94	0	ENST00000455601.2:c.992G>A	p.Arg331His	p.R331H	ENST00000455601	NM_145650.3	331	cGt/cAt	0	.	A:0	.	A:0	.	T	R/H	protein_coding	YES	CCDS44557.1	1073	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACGAAGT	SITE|p.R331H|c.992G>A|3	by1000G	.	hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF63	A:0	.	ENSP00000416753	A:0	4/4	.	.	.	.	.	.	.	.	rs560016592,COSM249269,COSM1648803	4/4	PASS	ENST00000436318	Transcript	.	A:0.0002	ENSG00000169550	14956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	benign(0.001)	A:0.001	deleterious(0.05)	0,1,1	.	MUC15	HGNC	E9PII6_HUMAN	.	UPI0000D4B9CF	SNV	MUC15,missense_variant,p.Arg331His,ENST00000455601,;MUC15,missense_variant,p.Arg308His,ENST00000281268,;MUC15,missense_variant,p.Arg308His,ENST00000527569,;MUC15,missense_variant,p.Arg358His,ENST00000436318,;MUC15,missense_variant,p.Arg358His,ENST00000529533,;ANO3,intron_variant,,ENST00000537978,;ANO3,intron_variant,,ENST00000531568,;ANO3,intron_variant,,ENST00000525139,;ANO3,intron_variant,,ENST00000256737,;ANO3,intron_variant,,ENST00000529242,;	1207	94	82	SUCCESS
SYT7	9066	.	GRCh37	11	61290591	61290591	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	95	0	ENST00000263846.4:c.1063del	p.Val355SerfsTer27	p.V355Sfs*27	ENST00000263846	NM_004200.3	355	Gtc/tc	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS58139.1	1288	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATGACAGTGA	NONE	.	.	PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF97,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00399	.	.	ENSP00000444201	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000540677	Transcript	.	.	ENSG00000011347	11514	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYT7_HUMAN	SYT7	HGNC	.	.	UPI0001639ECE	deletion	SYT7,frameshift_variant,p.Val474SerfsTer27,ENST00000535826,;SYT7,frameshift_variant,p.Val399SerfsTer27,ENST00000542836,;SYT7,frameshift_variant,p.Val355SerfsTer27,ENST00000263846,;SYT7,frameshift_variant,p.Val638SerfsTer27,ENST00000539008,;SYT7,frameshift_variant,p.Val430SerfsTer27,ENST00000540677,;SYT7,frameshift_variant,p.Val563SerfsTer27,ENST00000542670,;SYT7,downstream_gene_variant,,ENST00000545053,;SYT7,downstream_gene_variant,,ENST00000540831,;SYT7,3_prime_UTR_variant,,ENST00000539246,;SYT7,3_prime_UTR_variant,,ENST00000539468,;	1294	95	90	SUCCESS
KLRC1	3821	.	GRCh37	12	10603179	10603179	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	79	0	ENST00000359151.3:c.188-1G>T		p.X63_splice	ENST00000359151	NM_002259.4	63		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8625.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATCTGCAG	NONE	.	.	.	.	.	ENSP00000438038	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000544822	Transcript	.	.	ENSG00000134545	6374	.	.	HIGH	3/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2A_HUMAN	KLRC1	HGNC	F5GYZ0_HUMAN	.	UPI000013CF3D	SNV	KLRC1,splice_acceptor_variant,,ENST00000347831,;KLRC1,splice_acceptor_variant,,ENST00000544822,;KLRC1,splice_acceptor_variant,,ENST00000359151,;KLRC1,splice_acceptor_variant,,ENST00000536188,;KLRC1,splice_acceptor_variant,,ENST00000408006,;KLRC1,upstream_gene_variant,,ENST00000543893,;KLRC1,splice_acceptor_variant,,ENST00000537699,;	.	79	62	SUCCESS
CCDC169-SOHLH2	100526761	.	GRCh37	13	36805293	36805294	+	intron_variant	Intron	DEL	AA	AA	G	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	67	0	ENST00000511166.1:c.246-3776_246-3775delinsC		p.*82*	ENST00000511166	NM_001198910.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55897.1	.	PINDEL|VARSCANS*|SOMATICSNIPER*	.	TGGAAAAAAAAAG	NONE	.	.	.	.	.	ENSP00000426174	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000503173	Transcript	.	.	ENSG00000242715	34361	.	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC169_HUMAN	CCDC169	HGNC	.	.	UPI0000227E78	substitution	CCDC169,3_prime_UTR_variant,,ENST00000510088,;CCDC169,intron_variant,,ENST00000379864,;CCDC169,intron_variant,,ENST00000491049,;CCDC169,intron_variant,,ENST00000239860,;CCDC169-SOHLH2,intron_variant,,ENST00000511166,;CCDC169,intron_variant,,ENST00000503173,;SOHLH2,intron_variant,,ENST00000554962,;CCDC169,downstream_gene_variant,,ENST00000239859,;CCDC169,downstream_gene_variant,,ENST00000379862,;CCDC169,intron_variant,,ENST00000479850,;CCDC169,intron_variant,,ENST00000506800,;	.	67	74	SUCCESS
KCNH5	27133	.	GRCh37	14	63179291	63179291	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	48	0	ENST00000322893.7:c.2020-4118G>A		p.*674*	ENST00000322893	NM_139318.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9756.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTCTCCTG	NONE	.	.	.	.	.	ENSP00000321427	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,3_prime_UTR_variant,,ENST00000394968,;KCNH5,intron_variant,,ENST00000322893,;KCNH5,intron_variant,,ENST00000420622,;	.	48	40	SUCCESS
WNK4	65266	.	GRCh37	17	40933030	40933030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	99	0	ENST00000246914.5:c.314C>A	p.Pro105His	p.P105H	ENST00000246914	NM_032387.4	105	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS11439.1	314	RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCCCCCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902	.	.	ENSP00000246914	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000246914	Transcript	.	.	ENSG00000126562	14544	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0.04)	.	WNK4_HUMAN	WNK4	HGNC	B0LPI0_HUMAN	.	UPI000006FC0F	SNV	WNK4,missense_variant,p.Pro105His,ENST00000246914,;VPS25,downstream_gene_variant,,ENST00000590339,;VPS25,downstream_gene_variant,,ENST00000589520,;VPS25,downstream_gene_variant,,ENST00000253794,;WNK4,upstream_gene_variant,,ENST00000587705,;WNK4,missense_variant,p.Pro105His,ENST00000591448,;WNK4,upstream_gene_variant,,ENST00000592072,;VPS25,downstream_gene_variant,,ENST00000589577,;WNK4,upstream_gene_variant,,ENST00000592669,;	335	99	76	SUCCESS
HEXDC	0	.	GRCh37	17	80391623	80391623	+	synonymous_variant	Silent	SNP	G	G	A	rs552127805	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	49	194	1	ENST00000337014.6:c.372G>A	p.Ala124=	p.A124=	ENST00000337014	NM_173620.2	124	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS42402.1	372	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCGCTGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR21040:SF6,hmmpanther:PTHR21040,Gene3D:3.20.20.80,Pfam_domain:PF00728,Superfamily_domains:SSF51445	.	.	ENSP00000337854	.	5/12	.	.	.	.	.	.	.	.	rs552127805	5/12	PASS	ENST00000337014	Transcript	.	.	ENSG00000169660	26307	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXDC_HUMAN	HEXDC	HGNC	J3QLN1_HUMAN,J3KT84_HUMAN	.	UPI00001AF695	SNV	HEXDC,synonymous_variant,p.%3D,ENST00000577944,;HEXDC,synonymous_variant,p.%3D,ENST00000337014,;HEXDC,synonymous_variant,p.%3D,ENST00000580235,;HEXDC,synonymous_variant,p.%3D,ENST00000578632,;HEXDC,synonymous_variant,p.%3D,ENST00000327949,;HEXDC,upstream_gene_variant,,ENST00000578130,;HEXDC,3_prime_UTR_variant,,ENST00000582315,;HEXDC,3_prime_UTR_variant,,ENST00000581482,;HEXDC,3_prime_UTR_variant,,ENST00000578775,;HEXDC,upstream_gene_variant,,ENST00000585077,;HEXDC,upstream_gene_variant,,ENST00000582429,;HEXDC,upstream_gene_variant,,ENST00000578616,;	846	195	149	SUCCESS
MBD3L1	85509	.	GRCh37	19	8953859	8953859	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs761880439	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	63	0	ENST00000305625.2:c.505G>A	p.Ala169Thr	p.A169T	ENST00000305625	NM_145208.2	169	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS12209.1	505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCGCAATA	NONE	byFrequency	.	hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF1,Pfam_domain:PF14048	.	.	ENSP00000471575	.	3/3	.	.	.	.	.	.	.	.	rs761880439,COSM180145	3/3	PASS	ENST00000595891	Transcript	.	.	ENSG00000170948	15774	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.051)	.	tolerated(0.06)	0,1	MB3L1_HUMAN	MBD3L1	HGNC	.	.	UPI000013EA77	SNV	MBD3L1,missense_variant,p.Ala169Thr,ENST00000595891,;MBD3L1,missense_variant,p.Ala169Thr,ENST00000305625,;	736	63	37	SUCCESS
FLVCR1	28982	.	GRCh37	1	213061872	213061872	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	76	0	ENST00000366971.4:c.1349C>T	p.Ala450Val	p.A450V	ENST00000366971	NM_014053.3	450	gCt/gTt	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1510.1	1349	MUTECT|MUSE	.	ATTTGCTGTTG	NONE	.	.	Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR10924:SF2,hmmpanther:PTHR10924,PROSITE_profiles:PS50850	.	.	ENSP00000355938	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000366971	Transcript	.	.	ENSG00000162769	24682	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	FLVC1_HUMAN	FLVCR1	HGNC	.	.	UPI000006D3BB	SNV	FLVCR1,missense_variant,p.Ala249Val,ENST00000419102,;FLVCR1,missense_variant,p.Ala450Val,ENST00000366971,;FLVCR1,non_coding_transcript_exon_variant,,ENST00000483790,;FLVCR1,downstream_gene_variant,,ENST00000474693,;	1547	76	64	SUCCESS
BAGE2	85319	.	GRCh37	21	11038891	11038891	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	359	14	526	0	ENST00000470054.1:n.1313C>A		p.*438*	ENST00000470054				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	GGCAAGTCTGA	NONE	.	.	.	.	.	.	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1313	526	374	SUCCESS
CABIN1	23523	.	GRCh37	22	24573761	24573761	+	synonymous_variant	Silent	SNP	G	G	A	rs145349240	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	77	248	0	ENST00000263119.5:c.6495G>A	p.Ser2165=	p.S2165=	ENST00000263119	NM_012295.3	2165	tcG/tcA	0	A:0	A:0	.	A:0	.	A	S	protein_coding	YES	CCDS13823.1	6495	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCGGAGGA	NONE	byFrequency|byCluster|by1000G	.	Pfam_domain:PF09047,hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	A:0	A:0.001	ENSP00000381364	A:0.003	36/37	.	.	.	.	.	.	.	.	rs145349240	36/37	common_in_exac	ENST00000398319	Transcript	.	A:0.0010	ENSG00000099991	24187	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	CABIN_HUMAN	CABIN1	HGNC	.	.	UPI0000126D6C	SNV	CABIN1,synonymous_variant,p.%3D,ENST00000337989,;CABIN1,synonymous_variant,p.%3D,ENST00000398319,;CABIN1,synonymous_variant,p.%3D,ENST00000405822,;CABIN1,synonymous_variant,p.%3D,ENST00000263119,;SUSD2,upstream_gene_variant,,ENST00000358321,;CABIN1,downstream_gene_variant,,ENST00000485008,;SUSD2,upstream_gene_variant,,ENST00000463101,;CABIN1,downstream_gene_variant,,ENST00000459824,;	6880	249	202	SUCCESS
CCDC121	79635	.	GRCh37	2	27850335	27850335	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762222982	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	42	0	ENST00000324364.3:c.332C>A	p.Ala111Asp	p.A111D	ENST00000324364	NM_024584.4	111	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS46247.1	818	MUTECT|MUSE	.	ATATAGCAATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14845:SF1,hmmpanther:PTHR14845,Pfam_domain:PF14988	.	.	ENSP00000412150	.	2/2	.	.	.	.	.	.	.	.	rs762222982	2/2	PASS	ENST00000394775	Transcript	.	.	ENSG00000176714	25833	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.242)	.	tolerated(0.08)	.	CC121_HUMAN	CCDC121	HGNC	.	.	UPI0000208190	SNV	CCDC121,missense_variant,p.Ala111Asp,ENST00000324364,;CCDC121,missense_variant,p.Ala273Asp,ENST00000394775,;ZNF512,intron_variant,,ENST00000556601,;CCDC121,downstream_gene_variant,,ENST00000522876,;ZNF512,downstream_gene_variant,,ENST00000355467,;GPN1,upstream_gene_variant,,ENST00000264718,;GPN1,upstream_gene_variant,,ENST00000407583,;GPN1,upstream_gene_variant,,ENST00000503738,;GPN1,upstream_gene_variant,,ENST00000424214,;GPN1,upstream_gene_variant,,ENST00000610189,;GPN1,upstream_gene_variant,,ENST00000458167,;ZNF512,downstream_gene_variant,,ENST00000379717,;GPN1,upstream_gene_variant,,ENST00000515877,;RP11-158I13.2,intron_variant,,ENST00000505973,;GPN1,upstream_gene_variant,,ENST00000481754,;GPN1,upstream_gene_variant,,ENST00000461249,;GPN1,upstream_gene_variant,,ENST00000478484,;ZNF512,downstream_gene_variant,,ENST00000488055,;GPN1,upstream_gene_variant,,ENST00000436280,;	933	42	40	SUCCESS
CLIP4	79745	.	GRCh37	2	29366594	29366594	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	167	0	ENST00000320081.5:c.668C>A	p.Pro223His	p.P223H	ENST00000320081	NM_024692.4	223	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS1770.1	668	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCTGCTG	NONE	.	.	Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32,PROSITE_profiles:PS50297,Low_complexity_(Seg):seg	.	.	ENSP00000327009	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000320081	Transcript	.	.	ENSG00000115295	26108	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0)	.	CLIP4_HUMAN	CLIP4	HGNC	Q53QT5_HUMAN,Q4ZFY2_HUMAN,E7EW06_HUMAN,C9IYE4_HUMAN,A8K6D0_HUMAN	.	UPI000006F0E8	SNV	CLIP4,missense_variant,p.Pro223His,ENST00000401605,;CLIP4,missense_variant,p.Pro223His,ENST00000320081,;CLIP4,missense_variant,p.Pro223His,ENST00000404424,;CLIP4,missense_variant,p.Pro116His,ENST00000401617,;CLIP4,missense_variant,p.Pro223His,ENST00000415891,;CLIP4,3_prime_UTR_variant,,ENST00000456385,;	923	167	122	SUCCESS
SIX2	10736	.	GRCh37	2	45235916	45235916	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1164647831	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	100	0	ENST00000303077.6:c.334C>T	p.Arg112Cys	p.R112C	ENST00000303077	NM_016932.4	112	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS1822.1	334	MUTECT|MUSE	.	GCGGCGCACGC	NONE	.	.	hmmpanther:PTHR10390:SF29,hmmpanther:PTHR10390	.	.	ENSP00000304502	.	1/2	.	.	.	.	.	.	.	.	COSM4094365	1/2	PASS	ENST00000303077	Transcript	.	.	ENSG00000170577	10888	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(1)	.	deleterious(0)	1	SIX2_HUMAN	SIX2	HGNC	.	.	UPI00001359C0	SNV	SIX2,missense_variant,p.Arg112Cys,ENST00000303077,;AC093702.1,downstream_gene_variant,,ENST00000423433,;	654	100	96	SUCCESS
GPM6A	2823	.	GRCh37	4	176556161	176556161	+	synonymous_variant	Silent	SNP	G	G	A	rs141777363	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	65	0	ENST00000280187.7:c.732C>T	p.Asp244=	p.D244=	ENST00000280187	NM_005277.4	244	gaC/gaT	0	A:0	A:0.0008	.	A:0	.	A	D	protein_coding	YES	CCDS3824.1	732	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGTCTTT	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11683:SF4,hmmpanther:PTHR11683,Pfam_domain:PF01275	A:0	A:0.0001	ENSP00000280187	A:0	8/8	.	.	.	.	.	.	.	.	rs141777363	8/8	PASS	ENST00000280187	Transcript	.	A:0.0004	ENSG00000150625	4460	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	GPM6A_HUMAN	GPM6A	HGNC	Q49AH3_HUMAN,D6RIF4_HUMAN,D6RFZ3_HUMAN,D6RFY0_HUMAN,D6REJ8_HUMAN,D6RD95_HUMAN,D6RBM6_HUMAN,D6RBH3_HUMAN,D6RAE4_HUMAN,D6R9T7_HUMAN	.	UPI000012EAE1	SNV	GPM6A,synonymous_variant,p.%3D,ENST00000280187,;GPM6A,synonymous_variant,p.%3D,ENST00000515090,;GPM6A,synonymous_variant,p.%3D,ENST00000506894,;GPM6A,synonymous_variant,p.%3D,ENST00000393658,;GPM6A,non_coding_transcript_exon_variant,,ENST00000506219,;GPM6A,non_coding_transcript_exon_variant,,ENST00000508323,;GPM6A,non_coding_transcript_exon_variant,,ENST00000507080,;	778	65	44	SUCCESS
MMRN1	22915	.	GRCh37	4	90857798	90857798	+	synonymous_variant	Silent	SNP	G	G	A	rs762745325	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	31	202	0	ENST00000264790.2:c.2967G>A	p.Ser989=	p.S989=	ENST00000264790	NM_007351.2	989	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3635.1	2967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATCGTTGCC	NONE	byFrequency	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3	.	.	ENSP00000378431	.	7/9	.	.	.	.	.	.	.	.	rs762745325	7/9	PASS	ENST00000394980	Transcript	.	.	ENSG00000138722	7178	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMRN1_HUMAN	MMRN1	HGNC	E7EPG1_HUMAN	.	UPI000013D570	SNV	MMRN1,synonymous_variant,p.%3D,ENST00000394980,;MMRN1,synonymous_variant,p.%3D,ENST00000508372,;MMRN1,synonymous_variant,p.%3D,ENST00000264790,;MMRN1,intron_variant,,ENST00000394981,;	3286	202	164	SUCCESS
LRRC4	64101	.	GRCh37	7	127669904	127669904	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	24	136	0	ENST00000249363.3:c.790G>A	p.Gly264Arg	p.G264R	ENST00000249363	NM_022143.4	264	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5799.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCGTCAA	NONE	.	.	hmmpanther:PTHR24369:SF9,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000249363	.	2/2	.	.	.	.	.	.	.	.	COSM282524	2/2	PASS	ENST00000249363	Transcript	.	.	ENSG00000128594	15586	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.282)	.	deleterious(0)	1	LRRC4_HUMAN	LRRC4	HGNC	C9JA92_HUMAN,C9J7V8_HUMAN,C9J7K7_HUMAN	.	UPI0000049DF3	SNV	LRRC4,missense_variant,p.Gly264Arg,ENST00000249363,;SND1,intron_variant,,ENST00000354725,;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000494115,;LRRC4,downstream_gene_variant,,ENST00000478726,;LRRC4,downstream_gene_variant,,ENST00000476782,;SND1,intron_variant,,ENST00000484767,;SND1,intron_variant,,ENST00000470723,;	1048	136	111	SUCCESS
KMT2C	58508	.	GRCh37	7	151945149	151945149	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	406	16	531	0	ENST00000262189.6:c.2370C>A	p.Asp790Glu	p.D790E	ENST00000262189	NM_170606.2	790	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS5931.1	2370	MUTECT|MUSE	.	GGCAAGTCTGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000262189	.	14/59	.	.	.	.	.	.	.	.	.	14/59	PASS	ENST00000262189	Transcript	.	.	ENSG00000055609	13726	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.007)	.	.	.	KMT2C_HUMAN	KMT2C	HGNC	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN	.	UPI0000141B9F	SNV	KMT2C,missense_variant,p.Asp790Glu,ENST00000355193,;KMT2C,missense_variant,p.Asp790Glu,ENST00000262189,;KMT2C,upstream_gene_variant,,ENST00000418673,;KMT2C,missense_variant,p.Asp790Glu,ENST00000558084,;	2589	531	422	SUCCESS
AHR	196	.	GRCh37	7	17362177	17362177	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	554	26	517	0	ENST00000242057.4:c.306A>G	p.Arg102=	p.R102=	ENST00000242057	NM_001621.4	102	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS5366.1	306	MUTECT|MUSE	.	TGTAGAGCAGC	NONE	.	.	hmmpanther:PTHR10649:SF11,hmmpanther:PTHR10649	.	.	ENSP00000242057	.	3/11	.	.	.	.	.	.	.	.	COSM3995486	3/11	PASS	ENST00000242057	Transcript	.	.	ENSG00000106546	348	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	AHR_HUMAN	AHR	HGNC	.	.	UPI0000125727	SNV	AHR,synonymous_variant,p.%3D,ENST00000242057,;AHR,synonymous_variant,p.%3D,ENST00000463496,;	949	517	581	SUCCESS
FAM167A	83648	.	GRCh37	8	11301958	11301958	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs781655895	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	49	0	ENST00000284486.4:c.-38G>T		p.*13*	ENST00000284486	NM_053279.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5981.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACGGGGG	NONE	.	.	.	.	.	ENSP00000284486	.	2/3	.	.	.	.	.	.	.	.	rs781655895	2/3	PASS	ENST00000284486	Transcript	.	.	ENSG00000154319	15549	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F167A_HUMAN	FAM167A	HGNC	Q86Y02_HUMAN,E9PIY0_HUMAN	.	UPI0000127668	SNV	FAM167A,5_prime_UTR_variant,,ENST00000531804,;FAM167A,5_prime_UTR_variant,,ENST00000284486,;FAM167A,5_prime_UTR_variant,,ENST00000528897,;FAM167A,5_prime_UTR_variant,,ENST00000534308,;FAM167A,intron_variant,,ENST00000527445,;FAM167A,upstream_gene_variant,,ENST00000531564,;FAM167A,downstream_gene_variant,,ENST00000528111,;	502	49	19	SUCCESS
XKR4	114786	.	GRCh37	8	56270341	56270341	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	12	119	0	ENST00000327381.6:c.910A>C	p.Met304Leu	p.M304L	ENST00000327381	NM_052898.1	304	Atg/Ctg	0	.	.	.	.	.	C	M/L	protein_coding	YES	CCDS34893.1	910	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTATGCTG	NONE	.	.	Transmembrane_helices:TMhelix,Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	.	.	ENSP00000328326	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.06)	.	deleterious(0.02)	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,missense_variant,p.Met304Leu,ENST00000327381,;	1010	119	98	SUCCESS
GNA14	9630	.	GRCh37	9	80144156	80144156	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	93	0	ENST00000341700.6:c.138T>C	p.Ser46=	p.S46=	ENST00000341700	NM_004297.3	46	agT/agC	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS6657.1	138	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCACTTTC	NONE	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF57,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00318	.	.	ENSP00000365807	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000341700	Transcript	.	.	ENSG00000156049	4382	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GNA14_HUMAN	GNA14	HGNC	B1ALW3_HUMAN	.	UPI000004D20C	SNV	GNA14,synonymous_variant,p.%3D,ENST00000341700,;RP11-466A17.1,downstream_gene_variant,,ENST00000439145,;	652	93	73	SUCCESS
SLC39A12	221074	.	GRCh37	10	18254573	18254573	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	61	108	0	ENST00000377369.2:c.705A>T	p.Glu235Asp	p.E235D	ENST00000377369	NM_001145195.1	235	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS44362.1	705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAATATAT	NONE	.	.	hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191	.	.	ENSP00000366586	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(1)	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,missense_variant,p.Glu235Asp,ENST00000377369,;SLC39A12,missense_variant,p.Glu101Asp,ENST00000539911,;SLC39A12,missense_variant,p.Glu235Asp,ENST00000377371,;SLC39A12,missense_variant,p.Glu235Asp,ENST00000377374,;	978	108	121	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37507926	37507926	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	185	304	0	ENST00000361713.1:c.3118A>T	p.Asn1040Tyr	p.N1040Y	ENST00000361713	NM_052997.2	1040	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS7193.1	3118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAAATGAA	NONE	.	.	.	.	.	ENSP00000354432	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0.01)	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,missense_variant,p.Asn1159Tyr,ENST00000374660,;ANKRD30A,missense_variant,p.Asn1040Tyr,ENST00000361713,;ANKRD30A,missense_variant,p.Asn1040Tyr,ENST00000602533,;	3217	304	382	SUCCESS
RTKN2	219790	.	GRCh37	10	63957897	63957897	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs757101215	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	72	159	0	ENST00000373789.3:c.1600A>T	p.Ser534Cys	p.S534C	ENST00000373789	NM_145307.2	534	Agt/Tgt	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS7263.1	1600	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACTTGTTT	NONE	.	.	.	.	.	ENSP00000362894	.	12/12	.	.	.	.	.	.	.	.	rs757101215	12/12	PASS	ENST00000373789	Transcript	.	.	ENSG00000182010	19364	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	deleterious(0.03)	.	RTKN2_HUMAN	RTKN2	HGNC	.	.	UPI000007413A	SNV	RTKN2,missense_variant,p.Ser534Cys,ENST00000373789,;RTKN2,intron_variant,,ENST00000395265,;RTKN2,intron_variant,,ENST00000315289,;	1697	159	189	SUCCESS
SFMBT2	57713	.	GRCh37	10	7409744	7409744	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	139	0	ENST00000361972.4:c.303G>T	p.Gly101=	p.G101=	ENST00000361972	NM_001018039.1	101	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS31138.1	303	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCCCGCA	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000355109	.	4/21	.	.	.	.	.	.	.	.	.	4/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,synonymous_variant,p.%3D,ENST00000397160,;SFMBT2,synonymous_variant,p.%3D,ENST00000361972,;SFMBT2,synonymous_variant,p.%3D,ENST00000379711,;SFMBT2,synonymous_variant,p.%3D,ENST00000397167,;SFMBT2,synonymous_variant,p.%3D,ENST00000379713,;	394	139	132	SUCCESS
PI4K2A	55361	.	GRCh37	10	99433466	99433492	+	protein_altering_variant	In_Frame_Del	DEL	TCAGAGCCGGAAGCCCTTCTTTTCATG	TCAGAGCCGGAAGCCCTTCTTTTCATG	GCA	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	TCAGAGCCGGAAGCCCTTCTTTTCATG	TCAGAGCCGGAAGCCCTTCTTTTCATG	.	.	.	.	.	.	.	.	.	.	.	.	.	55	26	62	0	ENST00000370631.3:c.1407_1433delinsGCA	p.Phe469_Trp478delinsLeuGln	p.F469_W478delinsLQ	ENST00000370631	NM_018425.2	469	ttTCAGAGCCGGAAGCCCTTCTTTTCATGg/ttGCAg	0	.	.	.	.	.	GCA	FQSRKPFFSW/LQ	protein_coding	YES	.	1317-1343	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GAGCTTTCAGAGCCGGAAGCCCTTCTTTTCATGGTGGT	NONE	.	.	hmmpanther:PTHR12865:SF4,hmmpanther:PTHR12865,Low_complexity_(Seg):seg	.	.	ENSP00000359683	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000370649	Transcript	.	.	ENSG00000249967	30031	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PI4K2A	Uniprot_gn	E9PAM4_HUMAN	.	UPI0001AE6D73	substitution	PI4K2A,protein_altering_variant,p.Phe439_Trp448delinsLeuGln,ENST00000370649,;PI4K2A,protein_altering_variant,p.Phe439_Trp448delinsLeuGln,ENST00000555577,;PI4K2A,protein_altering_variant,p.Phe469_Trp478delinsLeuGln,ENST00000370631,;AVPI1,downstream_gene_variant,,ENST00000370626,;	1647-1673	62	81	SUCCESS
MMP8	4317	.	GRCh37	11	102595576	102595576	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	172	89	288	1	ENST00000236826.3:c.11T>A	p.Leu4Gln	p.L4Q	ENST00000236826	NM_002424.2	4	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS8320.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGGGAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201:SF137,hmmpanther:PTHR10201	.	.	ENSP00000236826	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000236826	Transcript	.	.	ENSG00000118113	7175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	MMP8_HUMAN	MMP8	HGNC	.	.	UPI00000422BB	SNV	MMP8,missense_variant,p.Leu4Gln,ENST00000236826,;MMP8,upstream_gene_variant,,ENST00000438475,;MMP8,missense_variant,p.Leu4Gln,ENST00000528662,;MMP8,missense_variant,p.Leu4Gln,ENST00000532799,;MMP8,missense_variant,p.Leu4Gln,ENST00000531168,;MMP8,missense_variant,p.Leu4Gln,ENST00000533258,;	110	289	262	SUCCESS
ARHGAP20	57569	.	GRCh37	11	110450147	110450147	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	89	0	ENST00000260283.4:c.3523G>C	p.Gly1175Arg	p.G1175R	ENST00000260283	NM_020809.3	1175	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS31673.1	3523	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCTGAGT	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF24	.	.	ENSP00000260283	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000260283	Transcript	.	.	ENSG00000137727	18357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated_low_confidence(0.06)	.	RHG20_HUMAN	ARHGAP20	HGNC	.	.	UPI000013D0BA	SNV	ARHGAP20,missense_variant,p.Gly1175Arg,ENST00000260283,;ARHGAP20,missense_variant,p.Gly718Arg,ENST00000529591,;ARHGAP20,missense_variant,p.Gly1139Arg,ENST00000527598,;ARHGAP20,missense_variant,p.Gly1139Arg,ENST00000528829,;ARHGAP20,missense_variant,p.Gly1149Arg,ENST00000357139,;ARHGAP20,missense_variant,p.Gly1149Arg,ENST00000533353,;ARHGAP20,missense_variant,p.Gly1152Arg,ENST00000524756,;	3808	89	87	SUCCESS
STT3A	3703	.	GRCh37	11	125472792	125472792	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	28	126	0	ENST00000392708.4:c.366C>T	p.Leu122=	p.L122=	ENST00000392708	NM_001278503.1	122	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS8458.1	366	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTCTTCTC	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13872:SF21,hmmpanther:PTHR13872,Pfam_domain:PF02516	.	.	ENSP00000376472	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000392708	Transcript	.	.	ENSG00000134910	6172	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STT3A_HUMAN	STT3A	HGNC	E9PNQ1_HUMAN,E9PN73_HUMAN,E9PIJ8_HUMAN,E9PI32_HUMAN	.	UPI0000071627	SNV	STT3A,synonymous_variant,p.%3D,ENST00000392708,;STT3A,synonymous_variant,p.%3D,ENST00000529196,;STT3A,synonymous_variant,p.%3D,ENST00000531491,;STT3A,downstream_gene_variant,,ENST00000527606,;STT3A,downstream_gene_variant,,ENST00000525652,;STT3A,downstream_gene_variant,,ENST00000529886,;STT3A,upstream_gene_variant,,ENST00000526726,;STT3A,upstream_gene_variant,,ENST00000527456,;STT3A,non_coding_transcript_exon_variant,,ENST00000534472,;STT3A,non_coding_transcript_exon_variant,,ENST00000526213,;STT3A,upstream_gene_variant,,ENST00000525431,;	525	126	130	SUCCESS
CTSD	1509	.	GRCh37	11	1785050	1785050	+	synonymous_variant	Silent	SNP	G	G	A	rs1463795260	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	35	72	0	ENST00000236671.2:c.40C>T	p.Leu14=	p.L14=	ENST00000236671	NM_001909.4	14	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7725.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCAGCAGGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF50630,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF230	.	.	ENSP00000236671	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000236671	Transcript	.	.	ENSG00000117984	2529	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATD_HUMAN	CTSD	HGNC	F8WD96_HUMAN,F8W787_HUMAN	.	UPI00000463E2	SNV	CTSD,synonymous_variant,p.%3D,ENST00000236671,;CTSD,upstream_gene_variant,,ENST00000367196,;RP11-295K3.1,upstream_gene_variant,,ENST00000427721,;CTSD,upstream_gene_variant,,ENST00000438213,;AC068580.1,upstream_gene_variant,,ENST00000580120,;AC068580.6,downstream_gene_variant,,ENST00000449248,;AC068580.5,upstream_gene_variant,,ENST00000446489,;CTSD,synonymous_variant,p.%3D,ENST00000433655,;	173	72	52	SUCCESS
SLC17A6	57084	.	GRCh37	11	22396318	22396318	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	41	88	0	ENST00000263160.3:c.1059T>A	p.Ala353=	p.A353=	ENST00000263160	NM_020346.2	353	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS7856.1	1059	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTGTGCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000263160	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,synonymous_variant,p.%3D,ENST00000263160,;	1496	88	74	SUCCESS
OSBPL5	114879	.	GRCh37	11	3113775	3113775	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751956572	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	95	0	ENST00000263650.7:c.2146G>T	p.Asp716Tyr	p.D716Y	ENST00000263650	NM_020896.3	716	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31344.1	2146	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTCCCAGG	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF79,Superfamily_domains:0051579	.	.	ENSP00000263650	.	19/22	.	.	.	.	.	.	.	.	rs751956572	19/22	PASS	ENST00000263650	Transcript	.	.	ENSG00000021762	16392	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	deleterious(0)	.	OSBL5_HUMAN	OSBPL5	HGNC	H0YCD7_HUMAN,E9PQB4_HUMAN,E9PPQ2_HUMAN,E9PNH0_HUMAN,E9PLN3_HUMAN,E9PJE6_HUMAN,E9PIJ6_HUMAN	.	UPI000000D722	SNV	OSBPL5,missense_variant,p.Asp648Tyr,ENST00000389989,;OSBPL5,missense_variant,p.Asp170Tyr,ENST00000478260,;OSBPL5,missense_variant,p.Asp347Tyr,ENST00000542243,;OSBPL5,missense_variant,p.Asp627Tyr,ENST00000525498,;OSBPL5,missense_variant,p.Asp648Tyr,ENST00000348039,;OSBPL5,missense_variant,p.Asp716Tyr,ENST00000263650,;OSBPL5,missense_variant,p.Asp269Tyr,ENST00000534454,;OSBPL5,3_prime_UTR_variant,,ENST00000471998,;OSBPL5,downstream_gene_variant,,ENST00000534491,;OSBPL5,upstream_gene_variant,,ENST00000498536,;	2306	95	71	SUCCESS
OR4A47	403253	.	GRCh37	11	48510756	48510757	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	rs765807982	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	GT	GT	.	.	.	.	.	.	.	.	.	.	.	.	.	58	28	71	0	ENST00000446524.1:c.418_419del	p.Val140CysfsTer19	p.V140Cfs*19	ENST00000446524	NM_001005512.2	138	GTg/g	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS31490.1	412-413	INDELOCATOR*|VARSCANI*|PINDEL	.	CAATGGGTGTGTG	NONE	.	.	Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Low_complexity_(Seg):seg	.	.	ENSP00000412752	.	1/1	.	.	.	.	.	.	.	.	rs765807982	1/1	PASS	ENST00000446524	Transcript	.	.	ENSG00000237388	31266	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O4A47_HUMAN	OR4A47	HGNC	.	.	UPI00001971E5	deletion	OR4A47,frameshift_variant,p.Val140CysfsTer19,ENST00000446524,;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	488-489	71	86	SUCCESS
NR1H4	9971	.	GRCh37	12	100926383	100926383	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	87	128	0	ENST00000551379.1:c.623A>C	p.Tyr208Ser	p.Y208S	ENST00000551379		208	tAt/tCt	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS55876.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTATACAG	NONE	.	.	PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF155,Gene3D:1.10.565.10,Superfamily_domains:SSF57716	.	.	ENSP00000447149	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000551379	Transcript	.	.	ENSG00000012504	7967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious_low_confidence(0.02)	.	NR1H4_HUMAN	NR1H4	HGNC	B7Z423_HUMAN	.	UPI000006E701	SNV	NR1H4,missense_variant,p.Tyr198Ser,ENST00000392986,;NR1H4,missense_variant,p.Tyr208Ser,ENST00000551379,;NR1H4,splice_region_variant,,ENST00000548884,;NR1H4,splice_region_variant,,ENST00000188403,;NR1H4,intron_variant,,ENST00000549996,;NR1H4,splice_region_variant,,ENST00000321046,;	651	128	157	SUCCESS
NUP37	79023	.	GRCh37	12	102512142	102512142	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	49	108	0	ENST00000251074.1:c.155A>T	p.Gln52Leu	p.Q52L	ENST00000251074	NM_024057.2	52	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS9089.1	155	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCTGAAAC	NONE	.	.	hmmpanther:PTHR22806,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000448054	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000552283	Transcript	.	.	ENSG00000075188	29929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.71)	.	deleterious(0.01)	.	NUP37_HUMAN	NUP37	HGNC	F8VXF5_HUMAN	.	UPI00000372E7	SNV	NUP37,missense_variant,p.Gln52Leu,ENST00000251074,;NUP37,missense_variant,p.Gln52Leu,ENST00000551744,;NUP37,missense_variant,p.Gln52Leu,ENST00000552283,;PARPBP,upstream_gene_variant,,ENST00000358383,;PARPBP,upstream_gene_variant,,ENST00000537257,;NUP37,downstream_gene_variant,,ENST00000550459,;PARPBP,upstream_gene_variant,,ENST00000543784,;PARPBP,upstream_gene_variant,,ENST00000541394,;PARPBP,upstream_gene_variant,,ENST00000378128,;PARPBP,upstream_gene_variant,,ENST00000327680,;PARPBP,upstream_gene_variant,,ENST00000392911,;NUP37,splice_region_variant,,ENST00000543021,;NUP37,splice_region_variant,,ENST00000548994,;PARPBP,upstream_gene_variant,,ENST00000541668,;NUP37,splice_region_variant,,ENST00000551200,;PARPBP,upstream_gene_variant,,ENST00000392909,;	295	108	142	SUCCESS
MVK	4598	.	GRCh37	12	110019202	110019202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	40	94	1	ENST00000228510.3:c.374C>A	p.Ala125Asp	p.A125D	ENST00000228510	NM_001114185.1	125	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS9132.1	374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCTGC	NONE	.	.	hmmpanther:PTHR10457:SF4,hmmpanther:PTHR10457,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF54211	.	.	ENSP00000228510	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000228510	Transcript	.	.	ENSG00000110921	7530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.67)	.	KIME_HUMAN	MVK	HGNC	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN	.	UPI000012DE5B	SNV	MVK,missense_variant,p.Ala125Asp,ENST00000546277,;MVK,missense_variant,p.Ala125Asp,ENST00000539335,;MVK,missense_variant,p.Ala125Asp,ENST00000228510,;MVK,intron_variant,,ENST00000539696,;MVK,intron_variant,,ENST00000392727,;MVK,intron_variant,,ENST00000539575,;MVK,intron_variant,,ENST00000541384,;MVK,intron_variant,,ENST00000535044,;MVK,splice_region_variant,,ENST00000537237,;MVK,intron_variant,,ENST00000545774,;MVK,intron_variant,,ENST00000447878,;MVK,upstream_gene_variant,,ENST00000545516,;	450	96	86	SUCCESS
ANKRD13A	88455	.	GRCh37	12	110456257	110456257	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1593212540	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	97	206	0	ENST00000261739.4:c.508A>G	p.Ile170Val	p.I170V	ENST00000261739	NM_033121.1	170	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS9140.1	508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGATAAGA	NONE	.	.	hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4,Pfam_domain:PF11904	.	.	ENSP00000261739	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000261739	Transcript	.	.	ENSG00000076513	21268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	tolerated(0.05)	.	AN13A_HUMAN	ANKRD13A	HGNC	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN	.	UPI000004472C	SNV	ANKRD13A,missense_variant,p.Ile24Val,ENST00000547639,;ANKRD13A,missense_variant,p.Ile170Val,ENST00000261739,;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000550404,;ANKRD13A,missense_variant,p.Ile82Val,ENST00000553025,;	674	206	233	SUCCESS
PTPN11	5781	.	GRCh37	12	112942513	112942513	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs781006724	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	268	199	377	0	ENST00000351677.2:c.1727G>T	p.Ser576Ile	p.S576I	ENST00000351677	NM_002834.3	576	aGt/aTt	0	.	.	.	.	.	T	S/I	protein_coding	YES	CCDS9163.1	1727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACAGTGCTA	NONE	.	.	PIRSF_domain:PIRSF000929	.	.	ENSP00000340944	.	15/16	.	.	.	.	.	.	.	.	rs781006724	15/16	PASS	ENST00000351677	Transcript	.	.	ENSG00000179295	9644	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious_low_confidence(0.01)	.	PTN11_HUMAN	PTPN11	HGNC	B3GUD4_HUMAN,B3GUD3_HUMAN	.	UPI000013296E	SNV	PTPN11,missense_variant,p.Ser576Ile,ENST00000351677,;	1925	377	467	SUCCESS
KCNA6	3742	.	GRCh37	12	4920532	4920532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	37	110	0	ENST00000280684.3:c.1325G>T	p.Cys442Phe	p.C442F	ENST00000280684		442	tGt/tTt	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS8534.1	1325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGTGCCA	NONE	.	.	Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Transmembrane_helices:TMhelix	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,missense_variant,p.Cys442Phe,ENST00000433855,;KCNA6,missense_variant,p.Cys442Phe,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	2191	110	141	SUCCESS
ESPL1	9700	.	GRCh37	12	53675324	53675324	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	48	68	1	ENST00000257934.4:c.2533C>T	p.His845Tyr	p.H845Y	ENST00000257934	NM_012291.4	845	Cat/Tat	0	.	.	.	.	.	T	H/Y	protein_coding	YES	CCDS8852.1	2533	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGCATCTC	NONE	.	.	hmmpanther:PTHR12792	.	.	ENSP00000257934	.	13/31	.	.	.	.	.	.	.	.	.	13/31	PASS	ENST00000257934	Transcript	.	.	ENSG00000135476	16856	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.07)	.	ESPL1_HUMAN	ESPL1	HGNC	H3BRX7_HUMAN	.	UPI00003668C3	SNV	ESPL1,missense_variant,p.His845Tyr,ENST00000257934,;ESPL1,missense_variant,p.His845Tyr,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000553016,;	2624	69	88	SUCCESS
VAMP1	6843	.	GRCh37	12	6573670	6573670	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	36	155	0	ENST00000396308.3:c.341-18C>T		p.*114*	ENST00000396308	NM_199245.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41740.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGAAGTC	NONE	.	.	.	.	.	ENSP00000379602	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396308	Transcript	.	.	ENSG00000139190	12642	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAMP1_HUMAN	VAMP1	HGNC	.	.	UPI00001380EE	SNV	VAMP1,3_prime_UTR_variant,,ENST00000361716,;VAMP1,intron_variant,,ENST00000396308,;VAMP1,intron_variant,,ENST00000535180,;VAMP1,intron_variant,,ENST00000400911,;TAPBPL,downstream_gene_variant,,ENST00000266556,;TAPBPL,intron_variant,,ENST00000545700,;VAMP1,intron_variant,,ENST00000544432,;TAPBPL,downstream_gene_variant,,ENST00000539384,;TAPBPL,downstream_gene_variant,,ENST00000542160,;TAPBPL,downstream_gene_variant,,ENST00000543567,;VAMP1,downstream_gene_variant,,ENST00000539047,;TAPBPL,downstream_gene_variant,,ENST00000544289,;VAMP1,downstream_gene_variant,,ENST00000535927,;VAMP1,downstream_gene_variant,,ENST00000538970,;	.	155	164	SUCCESS
A2ML1	144568	.	GRCh37	12	9027081	9027081	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	80	0	ENST00000299698.7:c.4282T>A	p.Leu1428Met	p.L1428M	ENST00000299698	NM_144670.4	1428	Ttg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS8596.2	4282	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAACTTGAAA	NONE	.	.	hmmpanther:PTHR11412:SF79,hmmpanther:PTHR11412,Pfam_domain:PF07677,Gene3D:1ayoA00,Superfamily_domains:SSF49410	.	.	ENSP00000299698	.	34/36	.	.	.	.	.	.	.	.	.	34/36	PASS	ENST00000299698	Transcript	.	.	ENSG00000166535	23336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	A2ML1_HUMAN	A2ML1	HGNC	H0YGG5_HUMAN	.	UPI000022904E	SNV	A2ML1,missense_variant,p.Leu1428Met,ENST00000299698,;A2ML1,missense_variant,p.Leu978Met,ENST00000541459,;A2ML1,missense_variant,p.Leu937Met,ENST00000539547,;A2ML1,missense_variant,p.Leu156Met,ENST00000537475,;	4462	80	80	SUCCESS
CCER1	196477	.	GRCh37	12	91348095	91348095	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs866986813	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	29	0	ENST00000358859.2:c.425G>A	p.Arg142His	p.R142H	ENST00000358859	NM_152638.2	142	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS9036.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGCTTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15482	.	.	ENSP00000351727	.	1/1	.	.	.	.	.	.	.	.	COSM1171948	1/1	PASS	ENST00000358859	Transcript	.	.	ENSG00000197651	28373	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.923)	.	tolerated(0.07)	1	CCER1_HUMAN	CCER1	HGNC	.	.	UPI000006EE70	SNV	CCER1,missense_variant,p.Arg142His,ENST00000358859,;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	859	29	28	SUCCESS
PROZ	8858	.	GRCh37	13	113826190	113826190	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1185267320	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	69	1	ENST00000375547.2:c.974A>G	p.Glu325Gly	p.E325G	ENST00000375547	NM_003891.2	325	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS58300.1	1040	MUTECT|MUSE	.	GGGGGAGGAGT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24278,hmmpanther:PTHR24278:SF20,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000344458	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000342783	Transcript	.	.	ENSG00000126231	9460	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.05)	.	tolerated(0.11)	.	PROZ_HUMAN	PROZ	HGNC	B0YJC6_HUMAN	.	UPI000002B1A6	SNV	PROZ,missense_variant,p.Glu325Gly,ENST00000375547,;PROZ,missense_variant,p.Glu347Gly,ENST00000342783,;PROZ,downstream_gene_variant,,ENST00000493630,;	1047	70	64	SUCCESS
CCDC169	728591	.	GRCh37	13	36871783	36871783	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	30	0	ENST00000239859.7:c.74T>A	p.Val25Asp	p.V25D	ENST00000239859		25	gTc/gAc	0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS55897.1	74	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGACTTCT	NONE	.	.	.	.	.	ENSP00000426174	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000503173	Transcript	.	.	ENSG00000242715	34361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.566)	.	deleterious(0.01)	.	CC169_HUMAN	CCDC169	HGNC	.	.	UPI0000227E78	SNV	CCDC169,missense_variant,p.Val25Asp,ENST00000503173,;CCDC169,missense_variant,p.Val25Asp,ENST00000239859,;CCDC169,5_prime_UTR_variant,,ENST00000379864,;CCDC169,5_prime_UTR_variant,,ENST00000510088,;CCDC169,5_prime_UTR_variant,,ENST00000239860,;CCDC169-SOHLH2,5_prime_UTR_variant,,ENST00000511166,;SOHLH2,5_prime_UTR_variant,,ENST00000554962,;CCDC169,5_prime_UTR_variant,,ENST00000491049,;CCDC169,5_prime_UTR_variant,,ENST00000379862,;SPG20,downstream_gene_variant,,ENST00000451493,;SPG20,downstream_gene_variant,,ENST00000355182,;SPG20,downstream_gene_variant,,ENST00000438666,;CCDC169,non_coding_transcript_exon_variant,,ENST00000471781,;CCDC169,non_coding_transcript_exon_variant,,ENST00000486683,;CCDC169,non_coding_transcript_exon_variant,,ENST00000485600,;CCDC169,non_coding_transcript_exon_variant,,ENST00000477250,;CCDC169,non_coding_transcript_exon_variant,,ENST00000479850,;CCDC169,5_prime_UTR_variant,,ENST00000506800,;	104	30	22	SUCCESS
CCNA1	8900	.	GRCh37	13	37012886	37012886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	49	209	0	ENST00000255465.4:c.775A>G	p.Lys259Glu	p.K259E	ENST00000255465		259	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS9357.1	775	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATAAACTT	NONE	.	.	Superfamily_domains:SSF47954,PIRSF_domain:PIRSF001771,SMART_domains:SM00385,Pfam_domain:PF00134,Gene3D:1.10.472.10,PROSITE_patterns:PS00292,hmmpanther:PTHR10177:SF68,hmmpanther:PTHR10177	.	.	ENSP00000255465	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000255465	Transcript	.	.	ENSG00000133101	1577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	deleterious(0)	.	CCNA1_HUMAN	CCNA1	HGNC	Q9UNG8_HUMAN,F6KX25_HUMAN	.	UPI000012759F	SNV	CCNA1,missense_variant,p.Lys258Glu,ENST00000418263,;CCNA1,missense_variant,p.Lys259Glu,ENST00000255465,;CCNA1,missense_variant,p.Lys215Glu,ENST00000449823,;CCNA1,missense_variant,p.Lys215Glu,ENST00000440264,;CCNA1,downstream_gene_variant,,ENST00000463403,;	1039	209	113	SUCCESS
POSTN	10631	.	GRCh37	13	38159034	38159034	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	20	87	0	ENST00000379747.4:c.927C>A	p.Leu309=	p.L309=	ENST00000379747	NM_006475.2	309	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9364.1	927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGAGAGT	NONE	.	.	Superfamily_domains:SSF82153,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR10900:SF12,hmmpanther:PTHR10900,PROSITE_profiles:PS50213	.	.	ENSP00000369071	.	8/23	.	.	.	.	.	.	.	.	.	8/23	PASS	ENST00000379747	Transcript	.	.	ENSG00000133110	16953	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POSTN_HUMAN	POSTN	HGNC	.	.	UPI000013CEB8	SNV	POSTN,synonymous_variant,p.%3D,ENST00000379747,;POSTN,synonymous_variant,p.%3D,ENST00000379749,;POSTN,synonymous_variant,p.%3D,ENST00000541481,;POSTN,synonymous_variant,p.%3D,ENST00000379743,;POSTN,synonymous_variant,p.%3D,ENST00000541179,;POSTN,synonymous_variant,p.%3D,ENST00000379742,;	1045	87	39	SUCCESS
AJUBA	84962	.	GRCh37	14	23444239	23444239	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	23	70	0	ENST00000262713.2:c.1314C>T	p.Gly438=	p.G438=	ENST00000262713	NM_032876.4	438	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS9581.1	1314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGATGCCATC	NONE	.	.	Superfamily_domains:SSF57716,SMART_domains:SM00132,Gene3D:2.10.110.10,Pfam_domain:PF00412,hmmpanther:PTHR24219,hmmpanther:PTHR24219:SF7,PROSITE_profiles:PS50023	.	.	ENSP00000262713	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000262713	Transcript	.	.	ENSG00000129474	20250	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AJUBA_HUMAN	AJUBA	HGNC	G3V5F5_HUMAN,G3V481_HUMAN	.	UPI0000040AEC	SNV	AJUBA,synonymous_variant,p.%3D,ENST00000553911,;AJUBA,synonymous_variant,p.%3D,ENST00000556731,;AJUBA,synonymous_variant,p.%3D,ENST00000397388,;AJUBA,synonymous_variant,p.%3D,ENST00000361265,;AJUBA,synonymous_variant,p.%3D,ENST00000553592,;AJUBA,synonymous_variant,p.%3D,ENST00000262713,;RP11-298I3.5,intron_variant,,ENST00000555074,;AJUBA,downstream_gene_variant,,ENST00000553736,;AJUBA,non_coding_transcript_exon_variant,,ENST00000555479,;	1690	70	76	SUCCESS
HEATR5A	25938	.	GRCh37	14	31814462	31814462	+	synonymous_variant	Silent	SNP	T	T	C	rs767100519	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	42	102	0	ENST00000389961.3:c.2871A>G	p.Leu957=	p.L957=	ENST00000389961		957	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	.	.	2010	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGATAGAGA	NONE	byFrequency	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF1	.	.	ENSP00000408681	.	14/30	.	.	.	.	.	.	.	.	rs767100519	14/30	PASS	ENST00000439727	Transcript	.	.	ENSG00000129493	20276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HEATR5A	HGNC	E9PB09_HUMAN	.	UPI0000197428	SNV	HEATR5A,synonymous_variant,p.%3D,ENST00000439727,;HEATR5A,synonymous_variant,p.%3D,ENST00000404677,;HEATR5A,synonymous_variant,p.%3D,ENST00000389961,;HEATR5A,synonymous_variant,p.%3D,ENST00000543095,;HEATR5A,synonymous_variant,p.%3D,ENST00000439348,;HEATR5A,synonymous_variant,p.%3D,ENST00000538864,;HEATR5A,synonymous_variant,p.%3D,ENST00000550366,;HEATR5A,upstream_gene_variant,,ENST00000549719,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	2087	102	117	SUCCESS
CTAGE5	0	.	GRCh37	14	39819413	39819413	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	83	174	0	ENST00000396158.2:c.2375T>G	p.Ile792Ser	p.I792S	ENST00000396158	NM_001247989.1	792	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS58316.1	2375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGATTCCAC	NONE	.	.	hmmpanther:PTHR23158:SF39,hmmpanther:PTHR23158	.	.	ENSP00000379462	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000396158	Transcript	.	.	ENSG00000150527	7057	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.02)	.	tolerated(0.19)	.	CTGE5_HUMAN	CTAGE5	HGNC	.	.	UPI0001AE69C9	SNV	CTAGE5,missense_variant,p.Ile758Ser,ENST00000396165,;CTAGE5,missense_variant,p.Ile792Ser,ENST00000396158,;RP11-407N17.3,missense_variant,p.Ile1322Ser,ENST00000553728,;CTAGE5,missense_variant,p.Ile758Ser,ENST00000553352,;CTAGE5,missense_variant,p.Ile787Ser,ENST00000280083,;CTAGE5,missense_variant,p.Ile775Ser,ENST00000341749,;CTAGE5,missense_variant,p.Ile712Ser,ENST00000556148,;CTAGE5,missense_variant,p.Ile744Ser,ENST00000348007,;RP11-407N17.3,missense_variant,p.Ile758Ser,ENST00000603904,;CTAGE5,missense_variant,p.Ile707Ser,ENST00000557038,;CTAGE5,intron_variant,,ENST00000341502,;CTAGE5,non_coding_transcript_exon_variant,,ENST00000553383,;	2711	174	146	SUCCESS
FLRT2	23768	.	GRCh37	14	86089243	86089243	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs139260862	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	61	138	0	ENST00000330753.4:c.1385del	p.Val462GlufsTer9	p.V462Efs*9	ENST00000330753	NM_013231.4	462	gTa/ga	0	C:0	.	.	.	.	-	V/X	protein_coding	YES	CCDS9877.1	1385	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTAGTAGGGG	NONE	byCluster	.	Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23,PROSITE_profiles:PS50853	.	C:0.0006	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	rs139260862	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	deletion	FLRT2,frameshift_variant,p.Val462GlufsTer9,ENST00000330753,;FLRT2,frameshift_variant,p.Val462GlufsTer9,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2152	138	184	SUCCESS
UNC79	57578	.	GRCh37	14	94088968	94088968	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	54	204	0	ENST00000393151.2:c.5389C>A	p.Pro1797Thr	p.P1797T	ENST00000393151		1797	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS9911.2	4858	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACCCCACA	NONE	.	.	hmmpanther:PTHR21696:SF1,hmmpanther:PTHR21696	.	.	ENSP00000256339	.	30/50	.	.	.	.	.	.	.	.	.	30/50	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.056)	.	tolerated_low_confidence(0.13)	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,missense_variant,p.Pro1797Thr,ENST00000393151,;UNC79,missense_variant,p.Pro1620Thr,ENST00000256339,;UNC79,missense_variant,p.Pro1819Thr,ENST00000553484,;UNC79,missense_variant,p.Pro1797Thr,ENST00000555664,;	5513	204	187	SUCCESS
HERC2P3	283755	.	GRCh37	15	20643882	20643882	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs528396027	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	80	163	0	ENST00000428453.1:n.3578G>A		p.*1193*	ENST00000428453				0	.	T:0.0008	.	T:0	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTCCGCATG	NONE	by1000G	.	.	T:0	.	.	T:0	23/27	.	.	.	.	.	.	.	.	rs528396027	23/27	PASS	ENST00000428453	Transcript	.	T:0.0002	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,downstream_gene_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000436934,;HERC2P3,downstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,downstream_gene_variant,,ENST00000545640,;	3578	164	152	SUCCESS
TRPM1	4308	.	GRCh37	15	31323191	31323191	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs905376764	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	75	116	0	ENST00000397795.2:c.3056T>C	p.Ile1019Thr	p.I1019T	ENST00000397795	NM_002420.5	1019	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS58347.1	3173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTATCTGG	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13,Pfam_domain:PF00520	.	.	ENSP00000437849	.	22/27	.	.	.	.	.	.	.	.	.	22/27	PASS	ENST00000542188	Transcript	1	.	ENSG00000134160	7146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	.	deleterious(0.04)	.	TRPM1_HUMAN	TRPM1	HGNC	H0YKU7_HUMAN	.	UPI0001DBB3A9	SNV	TRPM1,missense_variant,p.Ile1019Thr,ENST00000558445,;TRPM1,missense_variant,p.Ile1058Thr,ENST00000542188,;TRPM1,missense_variant,p.Ile943Thr,ENST00000558768,;TRPM1,missense_variant,p.Ile1041Thr,ENST00000256552,;TRPM1,missense_variant,p.Ile1019Thr,ENST00000397795,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000558755,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,non_coding_transcript_exon_variant,,ENST00000557948,;TRPM1,non_coding_transcript_exon_variant,,ENST00000558212,;TRPM1,intron_variant,,ENST00000560801,;	3487	116	123	SUCCESS
SLC30A4	7782	.	GRCh37	15	45781158	45781158	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773695242	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	46	198	1	ENST00000261867.4:c.775G>T	p.Gly259Trp	p.G259W	ENST00000261867	NM_013309.4	259	Ggg/Tgg	0	.	.	.	.	.	A	G/W	protein_coding	YES	CCDS10125.1	775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCCAGAAC	NONE	.	.	hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF34,Gene3D:3h90A01,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606	.	.	ENSP00000261867	.	5/8	.	.	.	.	.	.	.	.	rs773695242	5/8	PASS	ENST00000261867	Transcript	.	.	ENSG00000104154	11015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.735)	.	deleterious(0)	.	ZNT4_HUMAN	SLC30A4	HGNC	.	.	UPI00000526F2	SNV	SLC30A4,missense_variant,p.Gly259Trp,ENST00000261867,;snoU13,downstream_gene_variant,,ENST00000459592,;RP11-519G16.3,intron_variant,,ENST00000558536,;RP11-519G16.3,intron_variant,,ENST00000560647,;	1090	200	154	SUCCESS
FBN1	2200	.	GRCh37	15	48829987	48829987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	7	109	0	ENST00000316623.5:c.557G>A	p.Cys186Tyr	p.C186Y	ENST00000316623	NM_000138.4	186	tGt/tAt	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS32232.1	557	MUTECT|MUSE	.	TAAAACATGGG	NONE	.	.	PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	.	.	ENSP00000325527	.	7/66	.	.	.	.	.	.	.	.	.	7/66	PASS	ENST00000316623	Transcript	1	.	ENSG00000166147	3603	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	.	.	FBN1_HUMAN	FBN1	HGNC	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN	.	UPI0000163B0B	SNV	FBN1,missense_variant,p.Cys186Tyr,ENST00000316623,;FBN1,missense_variant,p.Cys186Tyr,ENST00000537463,;	1013	109	108	SUCCESS
PPIB	5479	.	GRCh37	15	64455210	64455210	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	rs772067068	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	35	124	0	ENST00000300026.3:c.-25G>C		p.*9*	ENST00000300026	NM_000942.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10191.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCCGGACA	NONE	byFrequency	.	.	.	.	ENSP00000300026	.	1/5	.	.	.	.	.	.	.	.	rs772067068	1/5	PASS	ENST00000300026	Transcript	1	.	ENSG00000166794	9255	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPIB_HUMAN	PPIB	HGNC	.	.	UPI0000072333	SNV	PPIB,5_prime_UTR_variant,,ENST00000300026,;CSNK1G1,downstream_gene_variant,,ENST00000607537,;CSNK1G1,downstream_gene_variant,,ENST00000303052,;PPIB,upstream_gene_variant,,ENST00000558492,;PPIB,non_coding_transcript_exon_variant,,ENST00000561048,;	195	124	142	SUCCESS
LARP6	55323	.	GRCh37	15	71124522	71124522	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146941351	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	33	122	0	ENST00000299213.8:c.1345G>A	p.Gly449Ser	p.G449S	ENST00000299213	NM_018357.2	449	Ggt/Agt	0	A:0.0002	.	.	.	.	T	G/S	protein_coding	YES	CCDS32281.1	1345	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTACCGGGGC	NONE	byCluster	.	hmmpanther:PTHR22792:SF44,hmmpanther:PTHR22792	.	A:0	ENSP00000299213	.	3/3	.	.	.	.	.	.	.	.	rs146941351	3/3	PASS	ENST00000299213	Transcript	.	.	ENSG00000166173	24012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.75)	.	LARP6_HUMAN	LARP6	HGNC	K7EPD2_HUMAN	.	UPI0000073C63	SNV	LARP6,missense_variant,p.Gly449Ser,ENST00000299213,;LARP6,downstream_gene_variant,,ENST00000559316,;RP11-138H8.7,upstream_gene_variant,,ENST00000592096,;	1416	122	96	SUCCESS
NEO1	4756	.	GRCh37	15	73541947	73541947	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	31	124	0	ENST00000261908.6:c.1779T>G	p.Ser593=	p.S593=	ENST00000261908	NM_002499.3	593	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS10247.1	1779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTTACAC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000341198	.	12/30	.	.	.	.	.	.	.	.	.	12/30	PASS	ENST00000339362	Transcript	.	.	ENSG00000067141	7754	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEO1_HUMAN	NEO1	HGNC	.	.	UPI000013D221	SNV	NEO1,synonymous_variant,p.%3D,ENST00000261908,;NEO1,synonymous_variant,p.%3D,ENST00000558964,;NEO1,synonymous_variant,p.%3D,ENST00000339362,;NEO1,synonymous_variant,p.%3D,ENST00000560328,;NEO1,synonymous_variant,p.%3D,ENST00000560262,;NEO1,non_coding_transcript_exon_variant,,ENST00000560352,;	2226	124	110	SUCCESS
SSTR5	6755	.	GRCh37	16	1129724	1129724	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	58	0	ENST00000293897.4:c.856T>C	p.Tyr286His	p.Y286H	ENST00000293897	NM_001053.3	286	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS10429.1	856	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTACTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF20,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00591	.	.	ENSP00000293897	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000293897	Transcript	.	.	ENSG00000162009	11334	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	SSR5_HUMAN	SSTR5	HGNC	.	.	UPI00000015DC	SNV	SSTR5,missense_variant,p.Tyr286His,ENST00000293897,;SSTR5,missense_variant,p.Tyr286His,ENST00000397547,;SSTR5,intron_variant,,ENST00000562758,;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;	944	58	45	SUCCESS
MSRB1	51734	.	GRCh37	16	1990784	1990784	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	209	0	ENST00000361871.3:c.314C>G	p.Pro105Arg	p.P105R	ENST00000361871	NM_016332.2	105	cCt/cGt	0	.	.	.	.	.	C	P/R	protein_coding	YES	CCDS42100.1	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTAGGGACA	NONE	.	.	Superfamily_domains:SSF51316,Gene3D:2.170.150.20,Pfam_domain:PF01641,hmmpanther:PTHR10173:SF11,hmmpanther:PTHR10173	.	.	ENSP00000355084	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000361871	Transcript	.	.	ENSG00000198736	14133	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	MSRB1_HUMAN	MSRB1	HGNC	D3DU81_HUMAN	.	UPI0000161C13	SNV	MSRB1,missense_variant,p.Pro105Arg,ENST00000361871,;MSRB1,synonymous_variant,p.%3D,ENST00000564908,;MSRB1,synonymous_variant,p.%3D,ENST00000399753,;MSRB1,intron_variant,,ENST00000473663,;RPL3L,downstream_gene_variant,,ENST00000268661,;MSRB1,downstream_gene_variant,,ENST00000489198,;	484	209	109	SUCCESS
IL21R	50615	.	GRCh37	16	27448987	27448987	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	26	74	0	ENST00000337929.3:c.331A>T	p.Ser111Cys	p.S111C	ENST00000337929	NM_181078.2	111	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS10630.1	331	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCAGCTTT	NONE	.	.	hmmpanther:PTHR23037:SF25,hmmpanther:PTHR23037	.	.	ENSP00000338010	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000337929	Transcript	.	.	ENSG00000103522	6006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.01)	.	IL21R_HUMAN	IL21R	HGNC	.	.	UPI0000043CF0	SNV	IL21R,missense_variant,p.Ser111Cys,ENST00000395755,;IL21R,missense_variant,p.Ser111Cys,ENST00000564089,;IL21R,missense_variant,p.Ser111Cys,ENST00000395754,;IL21R,missense_variant,p.Ser111Cys,ENST00000337929,;	804	74	50	SUCCESS
AXIN1	8312	.	GRCh37	16	396840	396840	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	81	0	ENST00000262320.3:c.186G>T	p.Arg62Ser	p.R62S	ENST00000262320	NM_003502.3	62	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS10405.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCCTCGG	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11	.	.	ENSP00000262320	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000262320	Transcript	.	.	ENSG00000103126	903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	AXIN1_HUMAN	AXIN1	HGNC	.	.	UPI000012669E	SNV	AXIN1,missense_variant,p.Arg62Ser,ENST00000262320,;AXIN1,missense_variant,p.Arg62Ser,ENST00000354866,;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;	558	81	31	SUCCESS
LONP2	83752	.	GRCh37	16	48295405	48295405	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	61	277	0	ENST00000285737.4:c.794A>T	p.Glu265Val	p.E265V	ENST00000285737	NM_031490.2	265	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10734.1	794	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGAAGATA	NONE	.	.	Low_complexity_(Seg):seg,HAMAP:MF_03121,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,TIGRFAM_domain:TIGR00763,PIRSF_domain:PIRSF001174	.	.	ENSP00000285737	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000285737	Transcript	.	.	ENSG00000102910	20598	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.828)	.	tolerated(0.05)	.	LONP2_HUMAN	LONP2	HGNC	Q9BU35_HUMAN	.	UPI000000DCD1	SNV	LONP2,missense_variant,p.Glu221Val,ENST00000535754,;LONP2,missense_variant,p.Glu265Val,ENST00000285737,;LONP2,missense_variant,p.Glu221Val,ENST00000416006,;LONP2,missense_variant,p.Glu265Val,ENST00000566755,;LONP2,upstream_gene_variant,,ENST00000570174,;	887	277	160	SUCCESS
NLRC5	84166	.	GRCh37	16	57062007	57062007	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	64	0	ENST00000262510.6:c.2099A>G	p.Asp700Gly	p.D700G	ENST00000262510	NM_032206.4	700	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS10773.1	2099	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGATGCCT	NONE	.	.	hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	.	.	ENSP00000262510	.	7/49	.	.	.	.	.	.	.	.	.	7/49	PASS	ENST00000262510	Transcript	.	.	ENSG00000140853	29933	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	NLRC5_HUMAN	NLRC5	HGNC	F5H274_HUMAN,F5GYP0_HUMAN	.	UPI00001AEE94	SNV	NLRC5,missense_variant,p.Asp55Gly,ENST00000543030,;NLRC5,missense_variant,p.Asp700Gly,ENST00000308149,;NLRC5,missense_variant,p.Asp453Gly,ENST00000538805,;NLRC5,missense_variant,p.Asp207Gly,ENST00000538110,;NLRC5,missense_variant,p.Asp700Gly,ENST00000539144,;NLRC5,missense_variant,p.Asp700Gly,ENST00000436936,;NLRC5,missense_variant,p.Asp700Gly,ENST00000262510,;NLRC5,missense_variant,p.Asp700Gly,ENST00000539881,;NLRC5,missense_variant,p.Asp428Gly,ENST00000545081,;NLRC5,non_coding_transcript_exon_variant,,ENST00000536231,;	2324	64	35	SUCCESS
PLA2G15	23659	.	GRCh37	16	68289238	68289238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	99	1	ENST00000219345.5:c.457G>T	p.Gly153Cys	p.G153C	ENST00000219345	NM_012320.3	153	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS10864.1	457	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGGGGTGAG	NONE	.	.	hmmpanther:PTHR11440:SF47,hmmpanther:PTHR11440,Pfam_domain:PF02450,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000219345	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000219345	Transcript	.	.	ENSG00000103066	17163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0.02)	.	PAG15_HUMAN	PLA2G15	HGNC	.	.	UPI00000359EF	SNV	PLA2G15,missense_variant,p.Gly153Cys,ENST00000568082,;PLA2G15,missense_variant,p.Gly153Cys,ENST00000566188,;PLA2G15,missense_variant,p.Gly185Cys,ENST00000564827,;PLA2G15,missense_variant,p.Gly153Cys,ENST00000219345,;PLA2G15,synonymous_variant,p.%3D,ENST00000413021,;PLA2G15,intron_variant,,ENST00000444212,;PLA2G15,intron_variant,,ENST00000565744,;RP11-96D1.7,downstream_gene_variant,,ENST00000563175,;RP11-96D1.7,downstream_gene_variant,,ENST00000569843,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562449,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000565460,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562966,;PLA2G15,downstream_gene_variant,,ENST00000566978,;	540	100	63	SUCCESS
PKD1L2	114780	.	GRCh37	16	81185401	81185401	+	synonymous_variant	Silent	SNP	C	C	T	rs1406397133	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	76	275	0	ENST00000525539.1:c.4524G>A	p.Val1508=	p.V1508=	ENST00000525539	NM_052892.3	1508	gtG/gtA	0	.	.	.	.	.	T	.	retained_intron	.	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGCCACAGG	NONE	.	.	.	.	.	.	.	17/25	.	.	.	.	.	.	.	.	.	17/25	PASS	ENST00000299598	Transcript	.	.	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PKD1L2	HGNC	.	.	.	SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,downstream_gene_variant,,ENST00000529079,;PKD1L2,synonymous_variant,p.%3D,ENST00000525539,;PKD1L2,synonymous_variant,p.%3D,ENST00000533478,;	3921	275	160	SUCCESS
DNAH9	1770	.	GRCh37	17	11593507	11593507	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	107	0	ENST00000262442.4:c.4368G>A	p.Arg1456=	p.R1456=	ENST00000262442	NM_001372.3	1456	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11160.1	4368	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACGGACCAA	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	.	ENSP00000262442	.	20/69	.	.	.	.	.	.	.	.	COSM559779	20/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,synonymous_variant,p.%3D,ENST00000454412,;DNAH9,synonymous_variant,p.%3D,ENST00000262442,;	4436	107	107	SUCCESS
DNAH9	1770	.	GRCh37	17	11833232	11833232	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	40	135	0	ENST00000262442.4:c.11927A>T	p.Glu3976Val	p.E3976V	ENST00000262442	NM_001372.3	3976	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS11160.1	11927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGAGGAGC	NONE	.	.	hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000262442	.	63/69	.	.	.	.	.	.	.	.	.	63/69	PASS	ENST00000262442	Transcript	.	.	ENSG00000007174	2953	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.133)	.	.	.	DYH9_HUMAN	DNAH9	HGNC	Q92865_HUMAN	.	UPI0000141BA2	SNV	DNAH9,missense_variant,p.Glu288Val,ENST00000608377,;DNAH9,missense_variant,p.Glu3976Val,ENST00000262442,;DNAH9,intron_variant,,ENST00000454412,;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,downstream_gene_variant,,ENST00000581682,;	11995	135	141	SUCCESS
USP32P1	162632	.	GRCh37	17	16704381	16704381	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	22	0	ENST00000393005.2:n.1588A>G		p.*530*	ENST00000393005				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45621.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CCATTACGTCA	NONE	.	.	.	.	.	ENSP00000439262	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000443444	Transcript	.	.	ENSG00000170160	29072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C144A_HUMAN	CCDC144A	HGNC	.	.	UPI0000F095D0	SNV	CCDC144A,3_prime_UTR_variant,,ENST00000443444,;RP11-219A15.2,upstream_gene_variant,,ENST00000582895,;USP32P1,non_coding_transcript_exon_variant,,ENST00000341745,;RP11-219A15.4,non_coding_transcript_exon_variant,,ENST00000602730,;USP32P1,non_coding_transcript_exon_variant,,ENST00000445583,;USP32P1,non_coding_transcript_exon_variant,,ENST00000393005,;USP32P1,non_coding_transcript_exon_variant,,ENST00000444558,;USP32P1,downstream_gene_variant,,ENST00000578986,;USP32P1,downstream_gene_variant,,ENST00000437217,;USP32P1,downstream_gene_variant,,ENST00000577603,;USP32P1,downstream_gene_variant,,ENST00000582011,;USP32P1,downstream_gene_variant,,ENST00000417524,;USP32P1,downstream_gene_variant,,ENST00000456071,;RP11-219A15.1,3_prime_UTR_variant,,ENST00000448331,;USP32P1,non_coding_transcript_exon_variant,,ENST00000506594,;	6656	22	25	SUCCESS
SNORD42B	26808	.	GRCh37	17	27047624	27047624	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	52	0	ENST00000458893.1:n.57C>A		p.*19*	ENST00000458893	NR_000013.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11241.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACCACTGA	NONE	.	.	.	.	.	ENSP00000389103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000422514	Transcript	.	.	ENSG00000198242	10317	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RL23A_HUMAN	RPL23A	HGNC	K7EMA7_HUMAN	.	UPI0000028D48	SNV	RPL23A,5_prime_UTR_variant,,ENST00000472628,;RPL23A,intron_variant,,ENST00000394938,;RPL23A,intron_variant,,ENST00000394935,;RPL23A,intron_variant,,ENST00000422514,;RPL23A,intron_variant,,ENST00000496182,;RPL23A,intron_variant,,ENST00000355731,;RAB34,upstream_gene_variant,,ENST00000430132,;RAB34,upstream_gene_variant,,ENST00000301043,;RAB34,upstream_gene_variant,,ENST00000419712,;RAB34,upstream_gene_variant,,ENST00000415040,;RAB34,upstream_gene_variant,,ENST00000436730,;RAB34,upstream_gene_variant,,ENST00000353676,;RAB34,upstream_gene_variant,,ENST00000447716,;RAB34,upstream_gene_variant,,ENST00000450529,;RAB34,upstream_gene_variant,,ENST00000582934,;RAB34,upstream_gene_variant,,ENST00000583538,;TLCD1,downstream_gene_variant,,ENST00000394933,;RAB34,upstream_gene_variant,,ENST00000395242,;TLCD1,downstream_gene_variant,,ENST00000581236,;RAB34,upstream_gene_variant,,ENST00000395243,;RAB34,upstream_gene_variant,,ENST00000395245,;TLCD1,downstream_gene_variant,,ENST00000292090,;RAB34,upstream_gene_variant,,ENST00000580843,;RPL23A,upstream_gene_variant,,ENST00000578181,;TLCD1,downstream_gene_variant,,ENST00000580518,;RAB34,upstream_gene_variant,,ENST00000412625,;RAB34,upstream_gene_variant,,ENST00000453384,;SNORD42B,non_coding_transcript_exon_variant,,ENST00000458893,;SNORD42A,upstream_gene_variant,,ENST00000459584,;SNORD4B,upstream_gene_variant,,ENST00000459083,;SNORD4A,upstream_gene_variant,,ENST00000459174,;AC010761.8,downstream_gene_variant,,ENST00000582718,;RPL23A,intron_variant,,ENST00000582736,;RAB34,upstream_gene_variant,,ENST00000474704,;RPL23A,upstream_gene_variant,,ENST00000580755,;RAB34,upstream_gene_variant,,ENST00000482688,;RAB34,upstream_gene_variant,,ENST00000481501,;RAB34,upstream_gene_variant,,ENST00000422279,;RAB34,upstream_gene_variant,,ENST00000483554,;	.	52	43	SUCCESS
PPP1R1B	84152	.	GRCh37	17	37791873	37791873	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	102	0	ENST00000254079.4:c.459A>T	p.Thr153=	p.T153=	ENST00000254079	NM_032192.3	153	acA/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS11339.1	459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACAACCTG	NONE	.	.	hmmpanther:PTHR15417:SF2,hmmpanther:PTHR15417,Pfam_domain:PF05395	.	.	ENSP00000254079	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000254079	Transcript	.	.	ENSG00000131771	9287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR1B_HUMAN	PPP1R1B	HGNC	Q9NNW1_HUMAN,B3KVQ9_HUMAN	.	UPI000012D808	SNV	PPP1R1B,synonymous_variant,p.%3D,ENST00000394265,;PPP1R1B,synonymous_variant,p.%3D,ENST00000580825,;PPP1R1B,synonymous_variant,p.%3D,ENST00000254079,;PPP1R1B,synonymous_variant,p.%3D,ENST00000394267,;PPP1R1B,synonymous_variant,p.%3D,ENST00000579000,;STARD3,upstream_gene_variant,,ENST00000577248,;PPP1R1B,downstream_gene_variant,,ENST00000582680,;STARD3,upstream_gene_variant,,ENST00000336308,;STARD3,upstream_gene_variant,,ENST00000579479,;STARD3,upstream_gene_variant,,ENST00000544210,;STARD3,upstream_gene_variant,,ENST00000581894,;STARD3,upstream_gene_variant,,ENST00000394250,;STARD3,upstream_gene_variant,,ENST00000580611,;STARD3,upstream_gene_variant,,ENST00000583718,;STARD3,upstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000585214,;STARD3,upstream_gene_variant,,ENST00000578232,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000580029,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000583446,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000492037,;STARD3,upstream_gene_variant,,ENST00000583582,;STARD3,upstream_gene_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000578577,;	928	102	100	SUCCESS
KRT9	3857	.	GRCh37	17	39726458	39726458	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	32	132	0	ENST00000246662.4:c.657A>T	p.Thr219=	p.T219=	ENST00000246662	NM_000226.3	219	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS32654.1	657	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACTGTCAG	NONE	.	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038	.	.	ENSP00000246662	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000246662	Transcript	.	.	ENSG00000171403	6447	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C9_HUMAN	KRT9	HGNC	K7EQQ3_HUMAN	.	UPI00001AE6F7	SNV	KRT9,synonymous_variant,p.%3D,ENST00000246662,;KRT9,5_prime_UTR_variant,,ENST00000588431,;	723	132	105	SUCCESS
KCNH4	23415	.	GRCh37	17	40330239	40330239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	47	85	0	ENST00000264661.3:c.464C>A	p.Ser155Tyr	p.S155Y	ENST00000264661	NM_012285.2	155	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS11420.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGGAGTTT	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378	.	.	ENSP00000264661	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000264661	Transcript	.	.	ENSG00000089558	6253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.379)	.	tolerated(0.57)	.	KCNH4_HUMAN	KCNH4	HGNC	.	.	UPI000012DCA8	SNV	KCNH4,missense_variant,p.Ser155Tyr,ENST00000264661,;KCNH4,missense_variant,p.Ser155Tyr,ENST00000607371,;	797	85	77	SUCCESS
ENO3	2027	.	GRCh37	17	4857083	4857083	+	synonymous_variant	Silent	SNP	C	C	T	rs1284491843	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	108	0	ENST00000323997.6:c.387C>T	p.Pro129=	p.P129=	ENST00000323997	NM_001976.4	129	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS11062.1	387	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCCTGTA	NONE	.	.	HAMAP:MF_00318,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF5,TIGRFAM_domain:TIGR01060,Pfam_domain:PF03952,Gene3D:3.20.20.120,PIRSF_domain:PIRSF001400,Superfamily_domains:SSF54826	.	.	ENSP00000324105	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000323997	Transcript	.	.	ENSG00000108515	3354	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENOB_HUMAN	ENO3	HGNC	K7EPM1_HUMAN,K7EP84_HUMAN,K7EKN2_HUMAN,E5RI09_HUMAN,E5RGZ4_HUMAN,E5RG95_HUMAN,D3DTL4_HUMAN	.	UPI000016A894	SNV	ENO3,synonymous_variant,p.%3D,ENST00000518175,;ENO3,synonymous_variant,p.%3D,ENST00000522249,;ENO3,synonymous_variant,p.%3D,ENST00000519602,;ENO3,synonymous_variant,p.%3D,ENST00000520221,;ENO3,synonymous_variant,p.%3D,ENST00000323997,;ENO3,synonymous_variant,p.%3D,ENST00000522798,;ENO3,synonymous_variant,p.%3D,ENST00000522301,;ENO3,synonymous_variant,p.%3D,ENST00000521811,;ENO3,synonymous_variant,p.%3D,ENST00000519584,;PFN1,upstream_gene_variant,,ENST00000225655,;ENO3,downstream_gene_variant,,ENST00000519266,;PFN1,upstream_gene_variant,,ENST00000572383,;ENO3,3_prime_UTR_variant,,ENST00000521659,;ENO3,non_coding_transcript_exon_variant,,ENST00000519834,;ENO3,upstream_gene_variant,,ENST00000522954,;ENO3,upstream_gene_variant,,ENST00000522425,;ENO3,downstream_gene_variant,,ENST00000571235,;ENO3,downstream_gene_variant,,ENST00000519300,;ENO3,downstream_gene_variant,,ENST00000518972,;	519	108	62	SUCCESS
SLC35G6	643664	.	GRCh37	17	7385340	7385340	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	46	74	0	ENST00000412468.2:c.37T>G	p.Ser13Ala	p.S13A	ENST00000412468	NM_001102614.1	13	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	CCDS45603.1	37	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTCCACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32	.	.	ENSP00000396523	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000412468	Transcript	.	.	ENSG00000259224	31351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(0.69)	.	S35G6_HUMAN	SLC35G6	HGNC	.	.	UPI000021D25A	SNV	SLC35G6,missense_variant,p.Ser13Ala,ENST00000412468,;ZBTB4,intron_variant,,ENST00000311403,;POLR2A,upstream_gene_variant,,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000322644,;ZBTB4,upstream_gene_variant,,ENST00000380599,;	152	74	79	SUCCESS
SLC35G6	643664	.	GRCh37	17	7385382	7385382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	43	66	0	ENST00000412468.2:c.79T>C	p.Trp27Arg	p.W27R	ENST00000412468	NM_001102614.1	27	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS45603.1	79	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCTGGCAC	NONE	.	.	hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32	.	.	ENSP00000396523	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000412468	Transcript	.	.	ENSG00000259224	31351	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.37)	.	S35G6_HUMAN	SLC35G6	HGNC	.	.	UPI000021D25A	SNV	SLC35G6,missense_variant,p.Trp27Arg,ENST00000412468,;ZBTB4,intron_variant,,ENST00000311403,;POLR2A,upstream_gene_variant,,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000322644,;ZBTB4,upstream_gene_variant,,ENST00000380599,;	194	66	73	SUCCESS
PGS1	9489	.	GRCh37	17	76374876	76374894	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CGCCAGCGCAGGAGGTGAG	CGCCAGCGCAGGAGGTGAG	-	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	CGCCAGCGCAGGAGGTGAG	CGCCAGCGCAGGAGGTGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	21	34	62	0	ENST00000262764.6:c.130_143+5del		p.X44_splice	ENST00000262764	NM_024419.3	44		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS42391.1	130-?	INDELOCATOR*|VARSCANI*|PINDEL	.	CGGGACCGCCAGCGCAGGAGGTGAGAGGGG	NONE	.	.	.	.	.	ENSP00000262764	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000262764	Transcript	.	.	ENSG00000087157	30029	.	.	HIGH	1/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGPS1_HUMAN	PGS1	HGNC	.	.	UPI00000435E5	deletion	PGS1,splice_donor_variant,,ENST00000329897,;PGS1,splice_donor_variant,,ENST00000587356,;PGS1,splice_donor_variant,,ENST00000592043,;PGS1,splice_donor_variant,,ENST00000262764,;PGS1,splice_donor_variant,,ENST00000589689,;RP11-806H10.4,downstream_gene_variant,,ENST00000592569,;PGS1,splice_donor_variant,,ENST00000586325,;PGS1,splice_donor_variant,,ENST00000585521,;PGS1,splice_donor_variant,,ENST00000588169,;PGS1,splice_donor_variant,,ENST00000589425,;PGS1,splice_donor_variant,,ENST00000589426,;PGS1,splice_donor_variant,,ENST00000586510,;	156-?	62	55	SUCCESS
ANKRD30B	374860	.	GRCh37	18	14828293	14828293	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	110	346	1	ENST00000358984.4:c.2403A>T	p.Val801=	p.V801=	ENST00000358984	NM_001145029.1	801	gtA/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS54182.1	2403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGTAGAGTC	NONE	.	.	hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147	.	.	ENSP00000351875	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000358984	Transcript	.	.	ENSG00000180777	24165	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30B_HUMAN	ANKRD30B	HGNC	.	.	UPI0000425FF7	SNV	ANKRD30B,synonymous_variant,p.%3D,ENST00000358984,;MIR3156-2,upstream_gene_variant,,ENST00000581101,;RP11-1157N2__B.2,upstream_gene_variant,,ENST00000581117,;	2583	348	318	SUCCESS
EPG5	57724	.	GRCh37	18	43462411	43462412	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	161	39	184	0	ENST00000282041.5:c.5345dup	p.Ser1783ValfsTer2	p.S1783Vfs*2	ENST00000282041	NM_020964.2	1782	ctg/ctTg	0	.	.	.	.	.	A	L/LX	protein_coding	YES	CCDS11926.2	5345-5346	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAGACAGAGG	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	31/44	.	.	.	.	.	.	.	.	.	31/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	insertion	EPG5,frameshift_variant,p.Ser1783ValfsTer2,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,frameshift_variant,p.Ser658ValfsTer2,ENST00000592272,;EPG5,3_prime_UTR_variant,,ENST00000587884,;EPG5,intron_variant,,ENST00000590884,;	5380-5381	184	200	SUCCESS
CDH19	28513	.	GRCh37	18	64239248	64239248	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	80	0	ENST00000262150.2:c.194del	p.Gln65ArgfsTer2	p.Q65Rfs*2	ENST00000262150	NM_021153.3	65	cAg/cg	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS11994.1	194	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTACCTGGCCG	NONE	.	.	hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000262150	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	deletion	CDH19,frameshift_variant,p.Gln65ArgfsTer2,ENST00000540086,;CDH19,frameshift_variant,p.Gln65ArgfsTer2,ENST00000262150,;CDH19,frameshift_variant,p.Gln65ArgfsTer?,ENST00000580157,;CDH19,frameshift_variant,p.Gln54ArgfsTer2,ENST00000454642,;CDH19,frameshift_variant,p.Gln65ArgfsTer2,ENST00000579658,;	487	80	103	SUCCESS
MAP1S	55201	.	GRCh37	19	17838628	17838629	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	100	28	106	0	ENST00000324096.4:c.2438_2439del	p.Thr813ArgfsTer13	p.T813Rfs*13	ENST00000324096	NM_018174.4	812	gAC/g	0	.	.	.	.	.	-	D/X	protein_coding	YES	CCDS32954.1	2435-2436	INDELOCATOR*|VARSCANI*|PINDEL	.	ACGAAGACACAGA	NONE	.	.	hmmpanther:PTHR13843	.	.	ENSP00000325313	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000324096	Transcript	.	.	ENSG00000130479	15715	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAP1S_HUMAN	MAP1S	HGNC	.	.	UPI00002036F9	deletion	MAP1S,frameshift_variant,p.Thr787ArgfsTer13,ENST00000544059,;MAP1S,frameshift_variant,p.Thr813ArgfsTer13,ENST00000324096,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,intron_variant,,ENST00000597000,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,downstream_gene_variant,,ENST00000600186,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;	2586-2587	106	128	SUCCESS
INSL3	3640	.	GRCh37	19	17932271	17932271	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	72	150	0	ENST00000317306.7:c.45T>A	p.Pro15=	p.P15=	ENST00000317306	NM_005543.3	15	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS58655.1	45	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCAGGGCC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10423	.	.	ENSP00000369017	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000379695	Transcript	1	.	ENSG00000248099	6086	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSL3_HUMAN	INSL3	HGNC	.	.	UPI0000D61749	SNV	INSL3,synonymous_variant,p.%3D,ENST00000379695,;INSL3,synonymous_variant,p.%3D,ENST00000317306,;INSL3,synonymous_variant,p.%3D,ENST00000598577,;JAK3,downstream_gene_variant,,ENST00000458235,;JAK3,downstream_gene_variant,,ENST00000527670,;JAK3,downstream_gene_variant,,ENST00000527031,;	113	150	137	SUCCESS
KCNN1	3780	.	GRCh37	19	18092673	18092673	+	synonymous_variant	Silent	SNP	G	G	T	rs371311512	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	67	0	ENST00000222249.9:c.654G>T	p.Ala218=	p.A218=	ENST00000222249	NM_002248.4	218	gcG/gcT	0	A:0	.	.	.	.	T	A	protein_coding	YES	CCDS67611.1	654	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACGCGCCCTC	NONE	byCluster	.	hmmpanther:PTHR10153:SF8,hmmpanther:PTHR10153,Gene3D:1.10.287.70	.	A:0.0001	ENSP00000476519	.	5/11	.	.	.	.	.	.	.	.	rs371311512	5/11	PASS	ENST00000222249	Transcript	.	.	ENSG00000105642	6290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNN1_HUMAN	KCNN1	HGNC	.	.	UPI00001649F9	SNV	KCNN1,synonymous_variant,p.%3D,ENST00000222249,;	973	67	63	SUCCESS
ZNF90	7643	.	GRCh37	19	20228890	20228890	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	7	141	0	ENST00000418063.2:c.527T>A	p.Ile176Lys	p.I176K	ENST00000418063	NM_007138.1	176	aTa/aAa	0	.	.	.	.	.	A	I/K	protein_coding	YES	CCDS46028.1	527	MUTECT|MUSE	.	ATGTATAGAAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF92,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000410466	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000418063	Transcript	.	.	ENSG00000213988	13165	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.085)	.	tolerated(1)	.	ZNF90_HUMAN	ZNF90	HGNC	.	.	UPI00002376E6	SNV	ZNF90,missense_variant,p.Ile176Lys,ENST00000418063,;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,upstream_gene_variant,,ENST00000484032,;ZNF90,downstream_gene_variant,,ENST00000473524,;	639	141	153	SUCCESS
ZNF556	80032	.	GRCh37	19	2877959	2877959	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	65	145	0	ENST00000307635.2:c.1003A>T	p.Arg335Ter	p.R335*	ENST00000307635	NM_024967.1	335	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS12097.1	1003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCGAGAACG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF142,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000302603	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000307635	Transcript	.	.	ENSG00000172000	25669	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN556_HUMAN	ZNF556	HGNC	.	.	UPI000006DA0F	SNV	ZNF556,stop_gained,p.Arg334Ter,ENST00000586426,;ZNF556,stop_gained,p.Arg335Ter,ENST00000307635,;ZNF556,downstream_gene_variant,,ENST00000586470,;AC006130.4,upstream_gene_variant,,ENST00000586202,;	1090	145	120	SUCCESS
UPK1A	11045	.	GRCh37	19	36166776	36166776	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs770591821	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	52	0	ENST00000222275.2:c.503G>T	p.Trp168Leu	p.W168L	ENST00000222275	NM_007000.3	168	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS12470.1	503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTGGGTGA	NONE	.	.	hmmpanther:PTHR19282:SF25,hmmpanther:PTHR19282,Pfam_domain:PF00335,Superfamily_domains:0037997	.	.	ENSP00000222275	.	5/7	.	.	.	.	.	.	.	.	rs770591821	5/7	PASS	ENST00000222275	Transcript	.	.	ENSG00000105668	12577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	UPK1A_HUMAN	UPK1A	HGNC	.	.	UPI0000137CD9	SNV	UPK1A,missense_variant,p.Trp168Leu,ENST00000222275,;UPK1A,missense_variant,p.Trp168Leu,ENST00000379013,;UPK1A-AS1,upstream_gene_variant,,ENST00000443196,;	503	52	40	SUCCESS
ZNF382	84911	.	GRCh37	19	37117233	37117233	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	181	384	0	ENST00000292928.2:c.434A>G	p.Asn145Ser	p.N145S	ENST00000292928	NM_032825.4	145	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS33004.1	434	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAATATTT	NONE	.	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF22	.	.	ENSP00000292928	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000292928	Transcript	.	.	ENSG00000161298	17409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.185)	.	tolerated(0.86)	.	ZN382_HUMAN	ZNF382	HGNC	K7EK67_HUMAN,C9JME7_HUMAN	.	UPI000013E0E2	SNV	ZNF382,missense_variant,p.Asn144Ser,ENST00000435416,;ZNF382,missense_variant,p.Asn145Ser,ENST00000292928,;ZNF382,missense_variant,p.Asn144Ser,ENST00000439428,;ZNF382,missense_variant,p.Asn96Ser,ENST00000423582,;ZNF382,missense_variant,p.Asn96Ser,ENST00000590785,;CTD-3234P18.2,upstream_gene_variant,,ENST00000585467,;	547	384	306	SUCCESS
NMRK2	27231	.	GRCh37	19	3942230	3942230	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs143940174	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	80	0	ENST00000168977.2:c.652A>G	p.Arg218Gly	p.R218G	ENST00000168977	NM_170678.2	218	Aga/Gga	0	C:0.0039	C:0.003	.	C:0.0014	.	G	R/G	protein_coding	YES	CCDS12115.1	652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACAGAACG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0	ENSP00000168977	C:0	8/8	.	.	.	.	.	.	.	.	rs143940174	8/8	PASS	ENST00000168977	Transcript	.	C:0.0010	ENSG00000077009	17871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	C:0	tolerated_low_confidence(0.1)	.	NRK2_HUMAN	NMRK2	HGNC	.	.	UPI000006CD83	SNV	NMRK2,missense_variant,p.Arg218Gly,ENST00000168977,;NMRK2,missense_variant,p.Arg223Gly,ENST00000593949,;NMRK2,3_prime_UTR_variant,,ENST00000599576,;NMRK2,downstream_gene_variant,,ENST00000597889,;	942	80	83	SUCCESS
GRIK5	2901	.	GRCh37	19	42507596	42507596	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	57	98	0	ENST00000262895.3:c.2402T>A	p.Met801Lys	p.M801K	ENST00000262895	NM_002088.4	801	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS12595.1	2402	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCATGCCC	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,Pfam_domain:PF00060	.	.	ENSP00000262895	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000262895	Transcript	.	.	ENSG00000105737	4583	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.168)	.	deleterious(0)	.	GRIK5_HUMAN	GRIK5	HGNC	.	.	UPI000013D353	SNV	GRIK5,missense_variant,p.Met801Lys,ENST00000301218,;GRIK5,missense_variant,p.Met801Lys,ENST00000593562,;GRIK5,missense_variant,p.Met801Lys,ENST00000262895,;GRIK5,non_coding_transcript_exon_variant,,ENST00000602210,;GRIK5,non_coding_transcript_exon_variant,,ENST00000454993,;	2402	98	94	SUCCESS
ZNF702P	79986	.	GRCh37	19	53473210	53473210	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	58	184	0	ENST00000270443.4:n.1284G>A		p.*428*	ENST00000270443				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCCAGTA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270443	Transcript	.	.	ENSG00000242779	25775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF702P	HGNC	.	.	.	SNV	ZNF702P,non_coding_transcript_exon_variant,,ENST00000270443,;CTD-2620I22.1,intron_variant,,ENST00000600068,;ZNF702P,downstream_gene_variant,,ENST00000599665,;ZNF702P,downstream_gene_variant,,ENST00000595402,;ZNF702P,downstream_gene_variant,,ENST00000598752,;ZNF702P,downstream_gene_variant,,ENST00000600425,;ZNF702P,non_coding_transcript_exon_variant,,ENST00000434269,;	1284	184	187	SUCCESS
ZNF525	170958	.	GRCh37	19	53884954	53884954	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	22	45	0	ENST00000355326.3:c.276G>C	p.Arg92Ser	p.R92S	ENST00000355326		92	agG/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	.	1122	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGATAAC	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_profiles:PS50157	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	deleterious(0.02)	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,missense_variant,p.Arg92Ser,ENST00000355326,;ZNF525,missense_variant,p.Arg374Ser,ENST00000474037,;ZNF525,missense_variant,p.Arg338Ser,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	1256	45	40	SUCCESS
PRKCG	5582	.	GRCh37	19	54393251	54393251	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	82	0	ENST00000263431.3:c.509C>T	p.Ala170Val	p.A170V	ENST00000263431	NM_002739.3	170	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS12867.1	509	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGCAGATG	NONE	.	.	Superfamily_domains:SSF49562,PIRSF_domain:PIRSF000550,Gene3D:2.60.40.150,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50004	.	.	ENSP00000263431	.	5/18	.	.	.	.	.	.	.	.	.	5/18	PASS	ENST00000263431	Transcript	1	.	ENSG00000126583	9402	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.18)	.	KPCG_HUMAN	PRKCG	HGNC	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN	.	UPI000000DC69	SNV	PRKCG,missense_variant,p.Ala57Val,ENST00000542049,;PRKCG,missense_variant,p.Ala170Val,ENST00000540413,;PRKCG,missense_variant,p.Ala42Val,ENST00000474397,;PRKCG,missense_variant,p.Ala170Val,ENST00000536044,;PRKCG,missense_variant,p.Ala170Val,ENST00000263431,;PRKCG,downstream_gene_variant,,ENST00000419486,;PRKCG,downstream_gene_variant,,ENST00000479081,;	791	82	66	SUCCESS
SH2D3A	10045	.	GRCh37	19	6755305	6755305	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	143	0	ENST00000245908.6:c.518C>G	p.Ser173Cys	p.S173C	ENST00000245908	NM_005490.2	173	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS12173.1	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGATATG	NONE	.	.	hmmpanther:PTHR14247	.	.	ENSP00000245908	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000245908	Transcript	.	.	ENSG00000125731	16885	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.09)	.	SH23A_HUMAN	SH2D3A	HGNC	.	.	UPI000006FD60	SNV	SH2D3A,missense_variant,p.Ser173Cys,ENST00000245908,;SH2D3A,missense_variant,p.Ser51Cys,ENST00000437152,;SH2D3A,intron_variant,,ENST00000597687,;TRIP10,downstream_gene_variant,,ENST00000313285,;TRIP10,downstream_gene_variant,,ENST00000596758,;TRIP10,downstream_gene_variant,,ENST00000600428,;TRIP10,downstream_gene_variant,,ENST00000313244,;CTD-3128G10.6,upstream_gene_variant,,ENST00000594056,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000597254,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000599563,;SH2D3A,upstream_gene_variant,,ENST00000597168,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000595305,;TRIP10,downstream_gene_variant,,ENST00000598843,;SH2D3A,downstream_gene_variant,,ENST00000595369,;TRIP10,downstream_gene_variant,,ENST00000600677,;	788	143	133	SUCCESS
MUC16	94025	.	GRCh37	19	9066432	9066432	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	100	0	ENST00000397910.4:c.21014T>G	p.Leu7005Trp	p.L7005W	ENST00000397910	NM_024690.2	7005	tTg/tGg	0	.	.	.	.	.	C	L/W	protein_coding	YES	CCDS54212.1	21014	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCAAAACT	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Leu7005Trp,ENST00000397910,;	21218	100	110	SUCCESS
CSF1	1435	.	GRCh37	1	110466107	110466107	+	synonymous_variant	Silent	SNP	C	C	T	rs1179661516	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	27	106	0	ENST00000329608.6:c.864C>T	p.Asn288=	p.N288=	ENST00000329608	NM_000757.5	288	aaC/aaT	0	.	.	.	.	.	T	N	protein_coding	YES	CCDS816.1	864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAACCCCGG	NONE	.	.	PIRSF_domain:PIRSF001948,Pfam_domain:PF05337,hmmpanther:PTHR10058	.	.	ENSP00000327513	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000329608	Transcript	.	.	ENSG00000184371	2432	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSF1_HUMAN	CSF1	HGNC	H7BY18_HUMAN,E9PKP4_HUMAN	.	UPI00001AFA6F	SNV	CSF1,synonymous_variant,p.%3D,ENST00000488198,;CSF1,synonymous_variant,p.%3D,ENST00000369801,;CSF1,synonymous_variant,p.%3D,ENST00000369802,;CSF1,synonymous_variant,p.%3D,ENST00000329608,;CSF1,synonymous_variant,p.%3D,ENST00000344188,;CSF1,intron_variant,,ENST00000420111,;CSF1,downstream_gene_variant,,ENST00000527192,;CSF1,downstream_gene_variant,,ENST00000525659,;CSF1,downstream_gene_variant,,ENST00000526001,;	1255	106	88	SUCCESS
SYCP1	6847	.	GRCh37	1	115438077	115438077	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	322	538	1	ENST00000369518.1:c.1267A>T	p.Thr423Ser	p.T423S	ENST00000369518		423	Act/Tct	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS879.1	1267	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGACTAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18878,Pfam_domain:PF05483	.	.	ENSP00000358535	.	16/32	.	.	.	.	.	.	.	.	.	16/32	PASS	ENST00000369522	Transcript	.	.	ENSG00000198765	11487	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.13)	.	SYCP1_HUMAN	SYCP1	HGNC	Q5VXJ5_HUMAN	.	UPI00001CE3B9	SNV	SYCP1,missense_variant,p.Thr423Ser,ENST00000455987,;SYCP1,missense_variant,p.Thr423Ser,ENST00000369518,;SYCP1,missense_variant,p.Thr423Ser,ENST00000369522,;	1507	539	517	SUCCESS
PTCHD2	0	.	GRCh37	1	11561824	11561824	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754537842	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	5	120	0	ENST00000294484.6:c.775T>A	p.Ser259Thr	p.S259T	ENST00000294484	NM_020780.1	259	Tcg/Acg	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS41247.1	775	MUTECT|MUSE	.	ACTACTCGCGC	NONE	byFrequency	.	hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	2/21	.	.	.	.	.	.	.	.	rs754537842	2/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.398)	.	tolerated(0.38)	.	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Ser259Thr,ENST00000389575,;PTCHD2,missense_variant,p.Ser259Thr,ENST00000294484,;	913	120	75	SUCCESS
SPAG17	200162	.	GRCh37	1	118640441	118640441	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	25	123	0	ENST00000336338.5:c.863C>T	p.Ala288Val	p.A288V	ENST00000336338	NM_206996.2	288	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS899.1	863	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGGCATTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21963	.	.	ENSP00000337804	.	7/49	.	.	.	.	.	.	.	.	.	7/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.156)	.	tolerated(0.14)	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,missense_variant,p.Ala288Val,ENST00000336338,;	929	124	101	SUCCESS
CREB3L4	148327	.	GRCh37	1	153941061	153941061	+	synonymous_variant	Silent	SNP	C	C	T	rs746004905	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	25	110	0	ENST00000271889.4:c.60C>T	p.Phe20=	p.F20=	ENST00000271889		20	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS1056.1	60	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTCTCGAC	NONE	byFrequency	.	hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF105	.	.	ENSP00000357596	.	2/10	.	.	.	.	.	.	.	.	rs746004905	2/10	PASS	ENST00000368607	Transcript	.	.	ENSG00000143578	18854	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CR3L4_HUMAN	CREB3L4	HGNC	B4DMZ9_HUMAN	.	UPI0000073CF0	SNV	CREB3L4,synonymous_variant,p.%3D,ENST00000368601,;CREB3L4,synonymous_variant,p.%3D,ENST00000368603,;CREB3L4,synonymous_variant,p.%3D,ENST00000368600,;CREB3L4,synonymous_variant,p.%3D,ENST00000431292,;CREB3L4,synonymous_variant,p.%3D,ENST00000449724,;CREB3L4,synonymous_variant,p.%3D,ENST00000271889,;CREB3L4,synonymous_variant,p.%3D,ENST00000368607,;CREB3L4,5_prime_UTR_variant,,ENST00000405694,;SLC39A1,upstream_gene_variant,,ENST00000413622,;SLC39A1,upstream_gene_variant,,ENST00000310483,;RP11-422P24.10,downstream_gene_variant,,ENST00000608147,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000492729,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000473340,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000461688,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000477617,;CREB3L4,non_coding_transcript_exon_variant,,ENST00000479010,;CREB3L4,upstream_gene_variant,,ENST00000468845,;	326	111	144	SUCCESS
KCNN3	3782	.	GRCh37	1	154841900	154841900	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	43	91	0	ENST00000271915.4:c.541A>T	p.Ser181Cys	p.S181C	ENST00000271915	NM_001204087.1	181	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS30880.1	541	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCGCTATACT	NONE	.	.	hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153	.	.	ENSP00000271915	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000271915	Transcript	.	.	ENSG00000143603	6292	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.821)	.	deleterious(0)	.	.	KCNN3	HGNC	Q6JXY2_HUMAN	.	UPI000013D915	SNV	KCNN3,missense_variant,p.Ser181Cys,ENST00000271915,;KCNN3,upstream_gene_variant,,ENST00000358505,;	857	91	100	SUCCESS
SLC25A44	9673	.	GRCh37	1	156170105	156170105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	35	75	0	ENST00000359511.4:c.467A>G	p.Glu156Gly	p.E156G	ENST00000359511	NM_014655.2	156	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS1133.1	467	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAGGGAC	NONE	.	.	Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF41,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	.	.	ENSP00000352497	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000359511	Transcript	.	.	ENSG00000160785	29036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.37)	.	S2544_HUMAN	SLC25A44	HGNC	.	.	UPI0000073CAD	SNV	SLC25A44,missense_variant,p.Glu133Gly,ENST00000423538,;SLC25A44,missense_variant,p.Glu156Gly,ENST00000359511,;SLC25A44,non_coding_transcript_exon_variant,,ENST00000469537,;SLC25A44,downstream_gene_variant,,ENST00000482737,;SLC25A44,upstream_gene_variant,,ENST00000468973,;	639	75	110	SUCCESS
CD5L	922	.	GRCh37	1	157805704	157805704	+	synonymous_variant	Silent	SNP	T	T	G	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	80	0	ENST00000368174.4:c.297A>C	p.Thr99=	p.T99=	ENST00000368174	NM_005894.2	99	acA/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS1171.1	297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGTTCC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	.	.	ENSP00000357156	.	3/6	.	.	.	.	.	.	.	.	COSM332782	3/6	PASS	ENST00000368174	Transcript	.	.	ENSG00000073754	1690	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CD5L_HUMAN	CD5L	HGNC	.	.	UPI000012738C	SNV	CD5L,synonymous_variant,p.%3D,ENST00000368174,;CD5L,downstream_gene_variant,,ENST00000484609,;	394	80	89	SUCCESS
ESPNP	284729	.	GRCh37	1	17030633	17030633	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	29	103	0	ENST00000270691.4:n.703G>C		p.*235*	ENST00000270691				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTCCATGC	NONE	.	.	.	.	.	.	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000270691	Transcript	.	.	ENSG00000268869	23285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ESPNP	HGNC	.	.	.	SNV	ESPNP,non_coding_transcript_exon_variant,,ENST00000492551,;ESPNP,non_coding_transcript_exon_variant,,ENST00000270691,;ESPNP,downstream_gene_variant,,ENST00000535711,;	703	103	82	SUCCESS
IL10	3586	.	GRCh37	1	206945657	206945657	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1274280163	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	61	66	0	ENST00000423557.1:c.124C>T	p.Arg42Ter	p.R42*	ENST00000423557	NM_000572.2	42	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS1467.1	124	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCGAAGCA	NONE	.	.	hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF1,Pfam_domain:PF00726,Gene3D:1.20.1250.10,SMART_domains:SM00188,Superfamily_domains:SSF47266,Prints_domain:PR01294	.	.	ENSP00000412237	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000423557	Transcript	.	.	ENSG00000136634	5962	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL10_HUMAN	IL10	HGNC	Q71UZ1_HUMAN,Q6LBF4_HUMAN,Q6FGW4_HUMAN	.	UPI0000034E50	SNV	IL10,stop_gained,p.Arg42Ter,ENST00000423557,;IL10,upstream_gene_variant,,ENST00000471071,;IL10,upstream_gene_variant,,ENST00000367099,;	183	66	129	SUCCESS
ESRRG	2104	.	GRCh37	1	216850491	216850491	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	73	108	0	ENST00000408911.3:c.399C>G	p.Asp133Glu	p.D133E	ENST00000408911	NM_001438.3	133	gaC/gaG	0	.	.	.	.	.	C	D/E	protein_coding	YES	CCDS58061.1	414	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGATGTCACC	NONE	.	.	Prints_domain:PR00047,Superfamily_domains:SSF57716,SMART_domains:SM00399,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Gene3D:3.30.50.10,Pfam_domain:PF00105,PROSITE_patterns:PS00031,hmmpanther:PTHR24084,PROSITE_profiles:PS51030	.	.	ENSP00000355904	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000366937	Transcript	.	.	ENSG00000196482	3474	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	ERR3_HUMAN	ESRRG	HGNC	C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN	.	UPI0000D4BFAB	SNV	ESRRG,missense_variant,p.Asp110Glu,ENST00000487276,;ESRRG,missense_variant,p.Asp110Glu,ENST00000366938,;ESRRG,missense_variant,p.Asp110Glu,ENST00000360012,;ESRRG,missense_variant,p.Asp133Glu,ENST00000408911,;ESRRG,missense_variant,p.Asp110Glu,ENST00000366940,;ESRRG,missense_variant,p.Asp110Glu,ENST00000361525,;ESRRG,missense_variant,p.Asp110Glu,ENST00000359162,;ESRRG,missense_variant,p.Asp110Glu,ENST00000493603,;ESRRG,missense_variant,p.Asp110Glu,ENST00000493748,;ESRRG,missense_variant,p.Asp110Glu,ENST00000391890,;ESRRG,missense_variant,p.Asp110Glu,ENST00000475275,;ESRRG,missense_variant,p.Asp110Glu,ENST00000463665,;ESRRG,missense_variant,p.Asp138Glu,ENST00000366937,;ESRRG,missense_variant,p.Asp110Glu,ENST00000361395,;ESRRG,downstream_gene_variant,,ENST00000481543,;ESRRG,downstream_gene_variant,,ENST00000459955,;ESRRG,downstream_gene_variant,,ENST00000469486,;ESRRG,intron_variant,,ENST00000586199,;	681	108	208	SUCCESS
TRIM67	440730	.	GRCh37	1	231344891	231344891	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	104	145	0	ENST00000366653.5:c.2018C>T	p.Ala673Val	p.A673V	ENST00000366653		673	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS44333.1	2018	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCAGCG	NONE	.	.	Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188	.	.	ENSP00000355613	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000366653	Transcript	.	.	ENSG00000119283	31859	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.146)	.	tolerated(0.49)	.	TRI67_HUMAN	TRIM67	HGNC	.	.	UPI0000418F23	SNV	TRIM67,missense_variant,p.Ala671Val,ENST00000444294,;TRIM67,missense_variant,p.Ala673Val,ENST00000366652,;TRIM67,missense_variant,p.Ala611Val,ENST00000449018,;TRIM67,missense_variant,p.Ala673Val,ENST00000366653,;	2018	145	276	SUCCESS
FMN2	56776	.	GRCh37	1	240256430	240256430	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	27	0	ENST00000319653.9:c.1021G>A	p.Gly341Arg	p.G341R	ENST00000319653	NM_020066.4	341	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS31069.2	1021	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGAGGGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213	.	.	ENSP00000318884	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,missense_variant,p.Gly341Arg,ENST00000319653,;FMN2,intron_variant,,ENST00000447095,;	1251	27	63	SUCCESS
OR11L1	391189	.	GRCh37	1	248004949	248004949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	389	15	246	1	ENST00000355784.2:c.250A>T	p.Asn84Tyr	p.N84Y	ENST00000355784	NM_001001959.1	84	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS31098.1	250	MUTECT|MUSE	.	CAGGTTGGCTA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF12,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000348033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355784	Transcript	.	.	ENSG00000197591	14998	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.635)	.	deleterious(0.02)	.	O11L1_HUMAN	OR11L1	HGNC	.	.	UPI0000061EBC	SNV	OR11L1,missense_variant,p.Asn84Tyr,ENST00000355784,;	306	247	404	SUCCESS
OR2T2	401992	.	GRCh37	1	248616857	248616857	+	synonymous_variant	Silent	SNP	C	C	T	rs763553843	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	64	68	0	ENST00000342927.3:c.759C>T	p.Tyr253=	p.Y253=	ENST00000342927	NM_001004136.1	253	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS31116.1	759	RADIA|SOMATICSNIPER|VARSCANS	.	TTCTACGGGGC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	rs763553843	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,synonymous_variant,p.%3D,ENST00000342927,;	781	68	112	SUCCESS
OR2T34	127068	.	GRCh37	1	248737365	248737365	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	347	157	271	1	ENST00000328782.2:c.694A>T	p.Arg232Trp	p.R232W	ENST00000328782	NM_001001821.1	232	Agg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS31120.1	694	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCCTGTGGA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000330904	.	1/1	.	.	.	.	.	.	.	.	COSM680305	1/1	PASS	ENST00000328782	Transcript	.	.	ENSG00000183310	31256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.954)	.	deleterious(0.02)	1	O2T34_HUMAN	OR2T34	HGNC	.	.	UPI0000061ED4	SNV	OR2T34,missense_variant,p.Arg232Trp,ENST00000328782,;	716	272	505	SUCCESS
ARID1A	8289	.	GRCh37	1	27107072	27107095	+	frameshift_variant	Frame_Shift_Del	DEL	TGGACATGATGCGGCGGGCTGCCC	TGGACATGATGCGGCGGGCTGCCC	CA	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	TGGACATGATGCGGCGGGCTGCCC	TGGACATGATGCGGCGGGCTGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	9	23	86	0	ENST00000324856.7:c.6683_6706delinsCA	p.Val2228AlafsTer32	p.V2228Afs*32	ENST00000324856	NM_006015.4	2228	gTGGACATGATGCGGCGGGCTGCCCgc/gCAgc	0	.	.	.	.	.	CA	VDMMRRAAR/AX	protein_coding	YES	CCDS285.1	6683-6706	INDELOCATOR*|VARSCANI*|PINDEL	.	CTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	substitution	ARID1A,frameshift_variant,p.Val2011AlafsTer32,ENST00000457599,;ARID1A,frameshift_variant,p.Val1845AlafsTer32,ENST00000374152,;ARID1A,frameshift_variant,p.Val1125AlafsTer32,ENST00000430799,;ARID1A,frameshift_variant,p.Val556AlafsTer32,ENST00000540690,;ARID1A,frameshift_variant,p.Val2228AlafsTer32,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	7054-7077	86	32	SUCCESS
ZCCHC11	0	.	GRCh37	1	52897111	52897111	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1169281567	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	79	129	0	ENST00000257177.4:c.4285C>T	p.Pro1429Ser	p.P1429S	ENST00000257177		1429	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30715.1	4285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGAGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF49	.	.	ENSP00000257177	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000257177	Transcript	.	.	ENSG00000134744	28981	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	TUT4_HUMAN	ZCCHC11	HGNC	H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN	.	UPI00001D7D0C	SNV	ZCCHC11,missense_variant,p.Pro274Ser,ENST00000474453,;ZCCHC11,missense_variant,p.Pro266Ser,ENST00000531722,;ZCCHC11,missense_variant,p.Pro1429Ser,ENST00000257177,;ZCCHC11,missense_variant,p.Pro1428Ser,ENST00000371544,;ZCCHC11,upstream_gene_variant,,ENST00000494469,;ZCCHC11,upstream_gene_variant,,ENST00000471623,;ZCCHC11,upstream_gene_variant,,ENST00000528457,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000466440,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000470212,;ZCCHC11,downstream_gene_variant,,ENST00000469810,;ZCCHC11,upstream_gene_variant,,ENST00000527941,;	4430	130	164	SUCCESS
DPYD	1806	.	GRCh37	1	98015193	98015193	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141439344	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	28	126	0	ENST00000370192.3:c.1447G>A	p.Val483Ile	p.V483I	ENST00000370192	NM_000110.3	483	Gtt/Att	0	T:0.0005	.	.	.	.	T	V/I	protein_coding	YES	CCDS30777.1	1447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAACGACAT	NONE	byCluster	.	hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Gene3D:3.50.50.60,Superfamily_domains:SSF51971	.	T:0	ENSP00000359211	.	12/23	.	.	.	.	.	.	.	.	rs141439344,COSM3689896	12/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.006)	.	tolerated(0.13)	0,1	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,missense_variant,p.Val483Ile,ENST00000370192,;SEC63P1,downstream_gene_variant,,ENST00000425785,;	1548	126	99	SUCCESS
SNX7	51375	.	GRCh37	1	99157249	99157249	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	67	221	1	ENST00000306121.3:c.633A>T	p.Gln211His	p.Q211H	ENST00000306121	NM_015976.4	211	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS755.2	633	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAAGCTTG	NONE	.	.	Superfamily_domains:SSF64268,SMART_domains:SM00312,Gene3D:3.30.1520.10,hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555,PROSITE_profiles:PS50195	.	.	ENSP00000304429	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000306121	Transcript	.	.	ENSG00000162627	14971	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.801)	.	deleterious(0)	.	SNX7_HUMAN	SNX7	HGNC	B7ZC83_HUMAN	.	UPI0000205396	SNV	SNX7,missense_variant,p.Gln147His,ENST00000370189,;SNX7,missense_variant,p.Gln211His,ENST00000306121,;SNX7,intron_variant,,ENST00000529992,;SNX7,downstream_gene_variant,,ENST00000454199,;SNX7,3_prime_UTR_variant,,ENST00000528824,;	642	222	214	SUCCESS
VSX1	30813	.	GRCh37	20	25062571	25062571	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	359	10	359	1	ENST00000376709.4:c.162C>T	p.Gly54=	p.G54=	ENST00000376709	NM_014588.5	54	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS13168.1	162	MUTECT|MUSE	.	TCGCAGCCAGA	NONE	.	.	hmmpanther:PTHR24323	.	.	ENSP00000365899	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000376709	Transcript	1	.	ENSG00000100987	12723	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VSX1_HUMAN	VSX1	HGNC	.	.	UPI0000138E43	SNV	VSX1,synonymous_variant,p.%3D,ENST00000429762,;VSX1,synonymous_variant,p.%3D,ENST00000376707,;VSX1,synonymous_variant,p.%3D,ENST00000398332,;VSX1,synonymous_variant,p.%3D,ENST00000444511,;VSX1,synonymous_variant,p.%3D,ENST00000424574,;VSX1,synonymous_variant,p.%3D,ENST00000451258,;VSX1,synonymous_variant,p.%3D,ENST00000376709,;VSX1,synonymous_variant,p.%3D,ENST00000409958,;VSX1,synonymous_variant,p.%3D,ENST00000409285,;VSX1,upstream_gene_variant,,ENST00000557285,;	426	360	369	SUCCESS
ABHD12	26090	.	GRCh37	20	25371383	25371383	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs373200654	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	33	1	ENST00000339157.5:c.-44C>G		p.*15*	ENST00000339157	NM_001042472.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13172.1	.	SOMATICSNIPER|VARSCANS	.	GGCCTGCGCCG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000365725	.	1/13	.	.	.	.	.	.	.	.	rs373200654	1/13	common_in_exac	ENST00000376542	Transcript	1	.	ENSG00000100997	15868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,5_prime_UTR_variant,,ENST00000339157,;ABHD12,5_prime_UTR_variant,,ENST00000376542,;ABHD12,upstream_gene_variant,,ENST00000471287,;ABHD12,5_prime_UTR_variant,,ENST00000461204,;	237	34	57	SUCCESS
ATRN	8455	.	GRCh37	20	3619493	3619493	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	40	76	0	ENST00000262919.5:c.3961C>T	p.Gln1321Ter	p.Q1321*	ENST00000262919	NM_139321.2	1321	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS13053.1	3961	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCAACAG	BUFFER|p.R1318*|c.3952C>T|3	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574	.	.	ENSP00000262919	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000262919	Transcript	.	.	ENSG00000088812	885	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATRN_HUMAN	ATRN	HGNC	.	.	UPI000012661C	SNV	ATRN,stop_gained,p.Gln1321Ter,ENST00000262919,;	4029	76	91	SUCCESS
DHX35	60625	.	GRCh37	20	37647529	37647529	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	60	103	0	ENST00000252011.3:c.1485G>C	p.Met495Ile	p.M495I	ENST00000252011	NM_021931.3	495	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS13310.1	1485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGCTGCT	NONE	.	.	hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	.	.	ENSP00000252011	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000252011	Transcript	.	.	ENSG00000101452	15861	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.796)	.	tolerated(0.25)	.	DHX35_HUMAN	DHX35	HGNC	.	.	UPI0000129088	SNV	DHX35,missense_variant,p.Met495Ile,ENST00000252011,;DHX35,missense_variant,p.Met495Ile,ENST00000373325,;DHX35,missense_variant,p.Met464Ile,ENST00000373323,;DHX35,upstream_gene_variant,,ENST00000449559,;DHX35,3_prime_UTR_variant,,ENST00000484417,;	1518	103	118	SUCCESS
OSBPL2	9885	.	GRCh37	20	60854388	60854388	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	45	97	0	ENST00000313733.3:c.667C>T	p.Leu223=	p.L223=	ENST00000313733	NM_144498.2	223	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS13495.1	667	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAGCTGCTC	NONE	.	.	hmmpanther:PTHR10972:SF54,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579	.	.	ENSP00000316649	.	7/14	.	.	.	.	.	.	.	.	.	7/14	PASS	ENST00000313733	Transcript	1	.	ENSG00000130703	15761	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL2_HUMAN	OSBPL2	HGNC	H0Y7X4_HUMAN	.	UPI0000130E96	SNV	OSBPL2,synonymous_variant,p.%3D,ENST00000358053,;OSBPL2,synonymous_variant,p.%3D,ENST00000448156,;OSBPL2,synonymous_variant,p.%3D,ENST00000313733,;OSBPL2,synonymous_variant,p.%3D,ENST00000439951,;	869	97	105	SUCCESS
DEPDC5	9681	.	GRCh37	22	32266715	32266715	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	7	126	0	ENST00000400246.1:c.3470A>C	p.Asn1157Thr	p.N1157T	ENST00000400246		1157	aAc/aCc	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS46692.1	3443	MUTECT|MUSE	.	CACAAACTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13179	.	.	ENSP00000371546	.	33/42	.	.	.	.	.	.	.	.	.	33/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated(0.6)	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,missense_variant,p.Asn1079Thr,ENST00000382105,;DEPDC5,missense_variant,p.Asn1135Thr,ENST00000266091,;DEPDC5,missense_variant,p.Asn1126Thr,ENST00000400248,;DEPDC5,missense_variant,p.Asn1148Thr,ENST00000382112,;DEPDC5,missense_variant,p.Asn1157Thr,ENST00000400246,;DEPDC5,missense_variant,p.Asn1157Thr,ENST00000382111,;DEPDC5,missense_variant,p.Asn533Thr,ENST00000433147,;DEPDC5,missense_variant,p.Asn1057Thr,ENST00000535622,;DEPDC5,missense_variant,p.Asn1126Thr,ENST00000400249,;DEPDC5,5_prime_UTR_variant,,ENST00000539165,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000494060,;DEPDC5,missense_variant,p.Asn509Thr,ENST00000448753,;DEPDC5,upstream_gene_variant,,ENST00000479261,;	3513	126	130	SUCCESS
SH3BP1	23616	.	GRCh37	22	38035775	38035775	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	36	82	1	ENST00000357436.4:c.-20G>T		p.*7*	ENST00000357436	NM_018957.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13952.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCAGCCCCC	NONE	.	.	.	.	.	ENSP00000350018	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000357436	Transcript	.	.	ENSG00000100092	10824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	3BP1_HUMAN	SH3BP1	HGNC	F8WEQ3_HUMAN	.	UPI000004EE00	SNV	SH3BP1,5_prime_UTR_variant,,ENST00000336738,;SH3BP1,5_prime_UTR_variant,,ENST00000442465,;SH3BP1,5_prime_UTR_variant,,ENST00000357436,;SH3BP1,upstream_gene_variant,,ENST00000599616,;Z83844.1,downstream_gene_variant,,ENST00000456099,;SH3BP1,upstream_gene_variant,,ENST00000495174,;SH3BP1,5_prime_UTR_variant,,ENST00000417536,;SH3BP1,5_prime_UTR_variant,,ENST00000451997,;SH3BP1,upstream_gene_variant,,ENST00000459646,;SH3BP1,upstream_gene_variant,,ENST00000469947,;SH3BP1,upstream_gene_variant,,ENST00000471650,;	294	83	71	SUCCESS
TRIOBP	11078	.	GRCh37	22	38121212	38121212	+	synonymous_variant	Silent	SNP	C	C	T	rs374255684	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	39	144	0	ENST00000406386.3:c.2649C>T	p.Pro883=	p.P883=	ENST00000406386	NM_001039141.2	883	ccC/ccT	0	A:0.001	.	.	.	.	T	P	protein_coding	YES	CCDS43015.1	2649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCCACCG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271	.	A:0	ENSP00000384312	.	7/24	.	.	.	.	.	.	.	.	rs374255684	7/24	PASS	ENST00000406386	Transcript	.	.	ENSG00000100106	17009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TARA_HUMAN	TRIOBP	HGNC	F6WYE2_HUMAN,F6WMF4_HUMAN	.	UPI000067CB88	SNV	TRIOBP,synonymous_variant,p.%3D,ENST00000406386,;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	2904	144	138	SUCCESS
DDX17	10521	.	GRCh37	22	38888102	38888102	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	4	102	0	ENST00000403230.1:c.1406C>A	p.Ala469Glu	p.A469E	ENST00000403230		469	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS46706.1	1406	MUTECT|MUSE	.	TGGGTGCCTTT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF219,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000380033	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000396821	Transcript	.	.	ENSG00000100201	2740	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.917)	.	deleterious(0.01)	.	.	DDX17	HGNC	Q9UQL5_HUMAN,H3BLZ8_HUMAN	.	UPI0001AE634C	SNV	DDX17,missense_variant,p.Ala390Glu,ENST00000381633,;DDX17,missense_variant,p.Ala469Glu,ENST00000403230,;DDX17,missense_variant,p.Ala469Glu,ENST00000396821,;DDX17,upstream_gene_variant,,ENST00000444597,;DDX17,non_coding_transcript_exon_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000432525,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;DDX17,downstream_gene_variant,,ENST00000497196,;DDX17,upstream_gene_variant,,ENST00000431312,;DDX17,downstream_gene_variant,,ENST00000477112,;	1506	102	87	SUCCESS
SELO	0	.	GRCh37	22	50655465	50655465	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs548507703	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	73	0	ENST00000380903.2:c.1753C>A	p.Arg585Ser	p.R585S	ENST00000380903	NM_031454.1	585	Cgc/Agc	0	.	T:0	.	T:0	.	A	R/S	protein_coding	YES	CCDS43034.1	1753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGCGCGTG	NONE	by1000G	.	HAMAP:MF_00692,hmmpanther:PTHR12153,Pfam_domain:PF02696	T:0	.	ENSP00000370288	T:0	8/9	.	.	.	.	.	.	.	.	rs548507703	8/9	PASS	ENST00000380903	Transcript	.	T:0.0002	ENSG00000073169	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.256)	T:0.001	deleterious(0.02)	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	SNV	SELO,missense_variant,p.Arg585Ser,ENST00000380903,;TUBGCP6,downstream_gene_variant,,ENST00000439308,;TUBGCP6,downstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000248846,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,downstream_gene_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000498611,;	1811	73	76	SUCCESS
MFSD9	84804	.	GRCh37	2	103353153	103353153	+	synonymous_variant	Silent	SNP	G	G	C	rs1228049483	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	85	173	1	ENST00000258436.5:c.117C>G	p.Ala39=	p.A39=	ENST00000258436	NM_032718.3	39	gcC/gcG	0	-:0	.	.	.	.	C	A	protein_coding	YES	CCDS2063.1	117	RADIA|MUTECT|MUSE|VARSCANS	.	CCGACGGCACC	NONE	.	.	hmmpanther:PTHR24003:SF492,hmmpanther:PTHR24003	.	-:0.0001	ENSP00000258436	.	1/6	.	.	.	.	.	.	.	.	rs759295165	1/6	PASS	ENST00000258436	Transcript	.	.	ENSG00000135953	28158	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MFSD9_HUMAN	MFSD9	HGNC	B4DKY6_HUMAN	.	UPI0000070215	SNV	MFSD9,synonymous_variant,p.%3D,ENST00000258436,;TMEM182,upstream_gene_variant,,ENST00000409528,;TMEM182,upstream_gene_variant,,ENST00000409173,;TMEM182,upstream_gene_variant,,ENST00000454536,;TMEM182,upstream_gene_variant,,ENST00000469971,;TMEM182,upstream_gene_variant,,ENST00000488134,;MFSD9,synonymous_variant,p.%3D,ENST00000438943,;MFSD9,synonymous_variant,p.%3D,ENST00000421966,;MFSD9,synonymous_variant,p.%3D,ENST00000411991,;MFSD9,synonymous_variant,p.%3D,ENST00000437075,;MFSD9,non_coding_transcript_exon_variant,,ENST00000462099,;MFSD9,upstream_gene_variant,,ENST00000428085,;	161	175	133	SUCCESS
NTSR2	23620	.	GRCh37	2	11809668	11809668	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	29	0	ENST00000306928.5:c.588G>T	p.Val196=	p.V196=	ENST00000306928	NM_012344.3	196	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS1681.1	588	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCACCGT	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01481	.	.	ENSP00000303686	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000306928	Transcript	.	.	ENSG00000169006	8040	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTR2_HUMAN	NTSR2	HGNC	.	.	UPI000013EBAA	SNV	NTSR2,synonymous_variant,p.%3D,ENST00000306928,;AC110754.3,upstream_gene_variant,,ENST00000399740,;	623	29	26	SUCCESS
LPIN1	23175	.	GRCh37	2	11913854	11913854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	72	0	ENST00000256720.2:c.705G>T	p.Glu235Asp	p.E235D	ENST00000256720	NM_145693.2	235	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS58699.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGAGTGGTC	NONE	.	.	hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181	.	.	ENSP00000397908	.	6/22	.	.	.	.	.	.	.	.	.	6/22	PASS	ENST00000449576	Transcript	.	.	ENSG00000134324	13345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.54)	.	.	LPIN1	HGNC	F5GY24_HUMAN,C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN	.	UPI0002064F62	SNV	LPIN1,missense_variant,p.Glu241Asp,ENST00000396099,;LPIN1,missense_variant,p.Glu284Asp,ENST00000449576,;LPIN1,missense_variant,p.Glu235Asp,ENST00000256720,;LPIN1,missense_variant,p.Glu241Asp,ENST00000425416,;LPIN1,missense_variant,p.Glu241Asp,ENST00000396098,;LPIN1,upstream_gene_variant,,ENST00000396097,;	905	72	57	SUCCESS
POTEF	728378	.	GRCh37	2	130832726	130832726	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs767909910	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	55	241	1	ENST00000357462.5:c.2319C>A	p.His773Gln	p.H773Q	ENST00000357462		773	caC/caA	0	.	.	.	.	.	T	H/Q	protein_coding	YES	CCDS46409.1	2319	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCGTGTTC	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000350052	.	15/15	.	.	.	.	.	.	.	.	rs767909910,COSM3113929	15/15	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.927)	.	deleterious_low_confidence(0.01)	0,1	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,missense_variant,p.His773Gln,ENST00000357462,;POTEF,missense_variant,p.His773Gln,ENST00000409914,;POTEF,downstream_gene_variant,,ENST00000361163,;POTEF,downstream_gene_variant,,ENST00000360967,;	2413	243	231	SUCCESS
TTN	7273	.	GRCh37	2	179399523	179399542	+	frameshift_variant	Frame_Shift_Del	DEL	ATGTCAAAGTGTCCAATATT	ATGTCAAAGTGTCCAATATT	-	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	ATGTCAAAGTGTCCAATATT	ATGTCAAAGTGTCCAATATT	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	45	0	ENST00000591111.1:c.96877_96896del	p.Asn32293Ter	p.N32293*	ENST00000591111		32293	AATATTGGACACTTTGACATt/t	0	.	.	.	.	.	-	NIGHFDI/X	protein_coding	YES	CCDS59435.1	101800-101819	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTCTAATGTCAAAGTGTCCAATATTATGAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,PROSITE_patterns:PS00109,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	.	.	ENSP00000467141	.	358/363	.	.	.	.	.	.	.	.	.	358/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	deletion	TTN,frameshift_variant,p.Asn24994Ter,ENST00000359218,;TTN,frameshift_variant,p.Asn24869Ter,ENST00000460472,;TTN,frameshift_variant,p.Asn32293Ter,ENST00000591111,;TTN,frameshift_variant,p.Asn33934Ter,ENST00000589042,;TTN,frameshift_variant,p.Asn25061Ter,ENST00000342175,;TTN,frameshift_variant,p.Asn31366Ter,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;	102025-102044	45	45	SUCCESS
CERKL	375298	.	GRCh37	2	182468567	182468567	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1378155485	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	129	0	ENST00000339098.5:c.478G>A	p.Ala160Thr	p.A160T	ENST00000339098		160	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS42789.1	478	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCCAATA	NONE	.	.	hmmpanther:PTHR12358:SF26,hmmpanther:PTHR12358	.	.	ENSP00000341159	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000339098	Transcript	.	.	ENSG00000188452	21699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.52)	.	CERKL_HUMAN	CERKL	HGNC	G0XYE8_HUMAN,G0XYE7_HUMAN,G0XYD8_HUMAN	.	UPI000057259A	SNV	CERKL,missense_variant,p.Ala160Thr,ENST00000409440,;CERKL,missense_variant,p.Ala160Thr,ENST00000374970,;CERKL,missense_variant,p.Ala160Thr,ENST00000339098,;CERKL,missense_variant,p.Ala160Thr,ENST00000410087,;CERKL,missense_variant,p.Ala160Thr,ENST00000374969,;CERKL,non_coding_transcript_exon_variant,,ENST00000476070,;CERKL,non_coding_transcript_exon_variant,,ENST00000479558,;CERKL,non_coding_transcript_exon_variant,,ENST00000460319,;CERKL,non_coding_transcript_exon_variant,,ENST00000466715,;CERKL,downstream_gene_variant,,ENST00000497337,;CERKL,missense_variant,p.Ala160Thr,ENST00000374967,;CERKL,missense_variant,p.Ala160Thr,ENST00000421817,;CERKL,missense_variant,p.Ala160Thr,ENST00000452174,;CERKL,non_coding_transcript_exon_variant,,ENST00000494398,;	478	129	95	SUCCESS
RQCD1	0	.	GRCh37	2	219447779	219447779	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	65	117	0	ENST00000273064.6:c.290T>C	p.Leu97Pro	p.L97P	ENST00000273064	NM_005444.2	97	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS33379.1	290	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACTGCAAT	NONE	.	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF04078,hmmpanther:PTHR12262	.	.	ENSP00000273064	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000273064	Transcript	.	.	ENSG00000144580	10445	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	RCD1_HUMAN	RQCD1	HGNC	D5MQE1_HUMAN,B4DJE1_HUMAN	.	UPI0000052E10	SNV	RQCD1,missense_variant,p.Leu97Pro,ENST00000542068,;RQCD1,missense_variant,p.Leu97Pro,ENST00000295701,;RQCD1,missense_variant,p.Leu97Pro,ENST00000273064,;RQCD1,missense_variant,p.Leu97Pro,ENST00000509807,;RQCD1,3_prime_UTR_variant,,ENST00000432877,;RQCD1,downstream_gene_variant,,ENST00000433439,;	665	117	123	SUCCESS
COL4A4	1286	.	GRCh37	2	228009257	228009257	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	353	506	1090	0	ENST00000396625.3:c.89T>G	p.Leu30Arg	p.L30R	ENST00000396625	NM_000092.4	30	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS42828.1	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAGAATG	NONE	.	.	.	.	.	ENSP00000379866	.	3/48	.	.	.	.	.	.	.	.	.	3/48	PASS	ENST00000396625	Transcript	.	.	ENSG00000081052	2206	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.931)	.	.	.	CO4A4_HUMAN	COL4A4	HGNC	.	.	UPI000013D987	SNV	COL4A4,missense_variant,p.Leu30Arg,ENST00000329662,;COL4A4,missense_variant,p.Leu30Arg,ENST00000396625,;	297	1090	860	SUCCESS
SNX17	9784	.	GRCh37	2	27593519	27593519	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	70	0	ENST00000233575.2:c.-92C>G		p.*31*	ENST00000233575	NM_001267059.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1750.1	.	MUTECT|MUSE	.	TGAGGCTGCGG	NONE	.	.	.	.	.	ENSP00000233575	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000233575	Transcript	.	.	ENSG00000115234	14979	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX17_HUMAN	SNX17	HGNC	B4DTB8_HUMAN,B4DLL7_HUMAN,B4DDM3_HUMAN	.	UPI0000135B4E	SNV	SNX17,5_prime_UTR_variant,,ENST00000537606,;SNX17,5_prime_UTR_variant,,ENST00000543024,;SNX17,5_prime_UTR_variant,,ENST00000233575,;EIF2B4,upstream_gene_variant,,ENST00000445933,;EIF2B4,upstream_gene_variant,,ENST00000493344,;EIF2B4,upstream_gene_variant,,ENST00000347454,;SNX17,upstream_gene_variant,,ENST00000542478,;EIF2B4,upstream_gene_variant,,ENST00000451130,;AC074117.10,downstream_gene_variant,,ENST00000412749,;SNX17,5_prime_UTR_variant,,ENST00000440760,;SNX17,5_prime_UTR_variant,,ENST00000427123,;SNX17,non_coding_transcript_exon_variant,,ENST00000484886,;SNX17,non_coding_transcript_exon_variant,,ENST00000464279,;SNX17,non_coding_transcript_exon_variant,,ENST00000494893,;SNX17,non_coding_transcript_exon_variant,,ENST00000489402,;SNX17,upstream_gene_variant,,ENST00000493711,;SNX17,upstream_gene_variant,,ENST00000453453,;EIF2B4,upstream_gene_variant,,ENST00000418146,;EIF2B4,upstream_gene_variant,,ENST00000475582,;EIF2B4,upstream_gene_variant,,ENST00000462749,;EIF2B4,upstream_gene_variant,,ENST00000405940,;EIF2B4,upstream_gene_variant,,ENST00000417567,;	131	70	52	SUCCESS
SMEK2	0	.	GRCh37	2	55825633	55825633	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	96	364	0	ENST00000345102.5:c.840A>G	p.Pro280=	p.P280=	ENST00000345102	NM_001122964.1	280	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS46289.1	840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATGGTGT	NONE	.	.	hmmpanther:PTHR23318:SF2,hmmpanther:PTHR23318,Pfam_domain:PF04802	.	.	ENSP00000339769	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000345102	Transcript	.	.	ENSG00000138041	29267	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P4R3B_HUMAN	SMEK2	HGNC	.	.	UPI00001C1DBA	SNV	SMEK2,synonymous_variant,p.%3D,ENST00000345102,;SMEK2,synonymous_variant,p.%3D,ENST00000272313,;SMEK2,synonymous_variant,p.%3D,ENST00000407823,;SMEK2,downstream_gene_variant,,ENST00000470801,;	1142	364	300	SUCCESS
EGR4	1961	.	GRCh37	2	73519494	73519494	+	synonymous_variant	Silent	SNP	G	G	A	rs779921623	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	53	123	0	ENST00000545030.1:c.861C>T	p.Pro287=	p.P287=	ENST00000545030	NM_001965.3	287	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1925.2	861	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGGGCTT	NONE	byFrequency	.	hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF1	.	.	ENSP00000445626	.	2/2	.	.	.	.	.	.	.	.	rs779921623,COSM1641979,COSM1641978	2/2	PASS	ENST00000545030	Transcript	.	.	ENSG00000135625	3241	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	EGR4_HUMAN	EGR4	HGNC	B7ZKU3_HUMAN	.	UPI0000EE25D4	SNV	EGR4,synonymous_variant,p.%3D,ENST00000545030,;EGR4,synonymous_variant,p.%3D,ENST00000436467,;	936	123	92	SUCCESS
ATOH8	84913	.	GRCh37	2	85981926	85981926	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	83	151	0	ENST00000306279.3:c.614A>G	p.Asp205Gly	p.D205G	ENST00000306279	NM_032827.6	205	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS1985.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGATTCCT	NONE	.	.	hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF8	.	.	ENSP00000304676	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000306279	Transcript	.	.	ENSG00000168874	24126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.531)	.	deleterious(0)	.	ATOH8_HUMAN	ATOH8	HGNC	.	.	UPI0000456DEB	SNV	ATOH8,missense_variant,p.Asp205Gly,ENST00000306279,;ATOH8,non_coding_transcript_exon_variant,,ENST00000463422,;ATOH8,intron_variant,,ENST00000469442,;	910	151	146	SUCCESS
CCDC54	84692	.	GRCh37	3	107096260	107096260	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	16	0	ENST00000261058.1:c.-175A>C		p.*59*	ENST00000261058	NM_032600.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2949.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATAAGAAG	NONE	.	.	.	.	.	ENSP00000261058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000261058	Transcript	.	.	ENSG00000138483	30703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD54_HUMAN	CCDC54	HGNC	.	.	UPI000006EB42	SNV	CCDC54,5_prime_UTR_variant,,ENST00000261058,;RP11-446H18.5,intron_variant,,ENST00000599431,;RP11-446H18.5,intron_variant,,ENST00000593837,;RP11-446H18.5,downstream_gene_variant,,ENST00000595232,;	73	16	14	SUCCESS
TMEM39A	55254	.	GRCh37	3	119155803	119155803	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	21	116	0	ENST00000319172.5:c.947G>T	p.Arg316Leu	p.R316L	ENST00000319172	NM_018266.2	316	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS2987.1	947	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCGCATG	NONE	.	.	hmmpanther:PTHR12995:SF3,hmmpanther:PTHR12995,Pfam_domain:PF10271	.	.	ENSP00000326063	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000319172	Transcript	.	.	ENSG00000176142	25600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.924)	.	tolerated(0.24)	.	TM39A_HUMAN	TMEM39A	HGNC	C9JYN8_HUMAN,C9JUZ6_HUMAN,C9IYN1_HUMAN	.	UPI00000715E5	SNV	TMEM39A,missense_variant,p.Arg316Leu,ENST00000319172,;TMEM39A,missense_variant,p.Arg162Leu,ENST00000491685,;TMEM39A,downstream_gene_variant,,ENST00000486159,;TMEM39A,3_prime_UTR_variant,,ENST00000438581,;TMEM39A,non_coding_transcript_exon_variant,,ENST00000468545,;TMEM39A,upstream_gene_variant,,ENST00000473684,;	1368	116	100	SUCCESS
STXBP5L	9515	.	GRCh37	3	121126301	121126301	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	140	0	ENST00000273666.6:c.2871A>T	p.Gln957His	p.Q957H	ENST00000273666	NM_014980.2	957	caA/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS43137.1	2871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAAGCCAA	NONE	.	.	hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08596,Superfamily_domains:SSF50978	.	.	ENSP00000273666	.	24/28	.	.	.	.	.	.	.	.	COSM3944738	24/28	PASS	ENST00000273666	Transcript	.	.	ENSG00000145087	30757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.999)	.	deleterious(0.03)	1	STB5L_HUMAN	STXBP5L	HGNC	C9JUZ7_HUMAN	.	UPI00001C1DEA	SNV	STXBP5L,missense_variant,p.Gln900His,ENST00000471262,;STXBP5L,missense_variant,p.Gln933His,ENST00000472879,;STXBP5L,missense_variant,p.Gln957His,ENST00000273666,;STXBP5L,missense_variant,p.Gln933His,ENST00000471454,;STXBP5L,missense_variant,p.Gln957His,ENST00000492541,;STXBP5L,missense_variant,p.Gln931His,ENST00000497029,;	3142	140	120	SUCCESS
EFCC1	79825	.	GRCh37	3	128720898	128720898	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1199652209	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	101	0	ENST00000436022.2:c.-885C>T		p.*295*	ENST00000436022	NM_024768.2	143		0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS3054.2	427	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCCGCCAG	NONE	.	.	hmmpanther:PTHR11595:SF22,hmmpanther:PTHR11595	.	.	ENSP00000420075	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000480450	Transcript	.	.	ENSG00000114654	25692	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	EFCC1_HUMAN	EFCC1	HGNC	.	.	UPI0001A2305A	SNV	EFCC1,missense_variant,p.Arg143Cys,ENST00000480450,;EFCC1,5_prime_UTR_variant,,ENST00000436022,;KIAA1257,intron_variant,,ENST00000510149,;	427	101	70	SUCCESS
CNTN6	27255	.	GRCh37	3	1414520	1414520	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	64	0	ENST00000350110.2:c.1669-2A>T		p.X557_splice	ENST00000350110	NM_014461.2	557		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2557.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTGCAGGAAT	NONE	.	.	.	.	.	ENSP00000407822	.	.	.	.	.	.	.	.	.	.	COSM1686425	.	PASS	ENST00000446702	Transcript	.	.	ENSG00000134115	2176	.	.	HIGH	13/22	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	CNTN6_HUMAN	CNTN6	HGNC	F5H752_HUMAN	.	UPI0000072430	SNV	CNTN6,splice_acceptor_variant,,ENST00000539053,;CNTN6,splice_acceptor_variant,,ENST00000446702,;CNTN6,splice_acceptor_variant,,ENST00000350110,;CNTN6,splice_acceptor_variant,,ENST00000397479,;	.	64	63	SUCCESS
PLS1	5357	.	GRCh37	3	142388377	142388377	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	6	110	0	ENST00000337777.3:c.216T>G	p.Ser72Arg	p.S72R	ENST00000337777	NM_002670.2	72	agT/agG	0	.	.	.	.	.	G	S/R	protein_coding	YES	CCDS3125.1	216	MUTECT|MUSE	.	ATCAGTTTTGA	NONE	.	.	PROSITE_profiles:PS50222,hmmpanther:PTHR19961:SF27,hmmpanther:PTHR19961,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	.	.	ENSP00000336831	.	3/16	.	.	.	.	.	.	.	.	.	3/16	PASS	ENST00000337777	Transcript	.	.	ENSG00000120756	9090	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.055)	.	deleterious(0.03)	.	PLSI_HUMAN	PLS1	HGNC	C9JYI1_HUMAN,C9JVY2_HUMAN,C9JU08_HUMAN,C9JAM8_HUMAN,C9JAM3_HUMAN,C9J359_HUMAN,C9J0F3_HUMAN	.	UPI000013D59A	SNV	PLS1,missense_variant,p.Ser72Arg,ENST00000475296,;PLS1,missense_variant,p.Ser72Arg,ENST00000337777,;PLS1,missense_variant,p.Ser72Arg,ENST00000457734,;PLS1,missense_variant,p.Ser72Arg,ENST00000464320,;PLS1,missense_variant,p.Ser72Arg,ENST00000497002,;PLS1,5_prime_UTR_variant,,ENST00000476044,;PLS1,downstream_gene_variant,,ENST00000461644,;PLS1,downstream_gene_variant,,ENST00000483373,;PLS1,downstream_gene_variant,,ENST00000497199,;PLS1,downstream_gene_variant,,ENST00000495744,;RN7SKP25,upstream_gene_variant,,ENST00000362449,;PLS1,non_coding_transcript_exon_variant,,ENST00000460104,;	429	110	115	SUCCESS
RAP2B	5912	.	GRCh37	3	152880629	152880629	+	synonymous_variant	Silent	SNP	G	G	T	rs779678295	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	38	127	0	ENST00000323534.2:c.147G>T	p.Ser49=	p.S49=	ENST00000323534	NM_002886.3	49	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3170.1	147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTCGCCGTC	NONE	.	.	PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF194,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	rs779678295	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,synonymous_variant,p.%3D,ENST00000323534,;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	601	127	125	SUCCESS
FXR1	8087	.	GRCh37	3	180652981	180652981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	117	327	0	ENST00000357559.4:c.160G>T	p.Asp54Tyr	p.D54Y	ENST00000357559	NM_001013438.2	54	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS3238.1	160	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGATATA	NONE	.	.	hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6	.	.	ENSP00000350170	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000357559	Transcript	.	.	ENSG00000114416	4023	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	FXR1_HUMAN	FXR1	HGNC	C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN	.	UPI000013EA6E	SNV	FXR1,missense_variant,p.Asp54Tyr,ENST00000357559,;FXR1,missense_variant,p.Asp54Tyr,ENST00000445140,;FXR1,missense_variant,p.Asp58Tyr,ENST00000484042,;FXR1,missense_variant,p.Asp41Tyr,ENST00000480918,;FXR1,5_prime_UTR_variant,,ENST00000305586,;FXR1,5_prime_UTR_variant,,ENST00000468861,;FXR1,5_prime_UTR_variant,,ENST00000484790,;FXR1,5_prime_UTR_variant,,ENST00000465551,;FXR1,intron_variant,,ENST00000491062,;FXR1,intron_variant,,ENST00000484958,;FXR1,intron_variant,,ENST00000469882,;FXR1,non_coding_transcript_exon_variant,,ENST00000461801,;FXR1,non_coding_transcript_exon_variant,,ENST00000479176,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;FXR1,intron_variant,,ENST00000475315,;	544	327	233	SUCCESS
CMTM7	112616	.	GRCh37	3	32433454	32433454	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1354945329	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	28	0	ENST00000334983.5:c.56G>A	p.Gly19Glu	p.G19E	ENST00000334983	NM_138410.2	19	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS33730.1	56	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGACCCG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000335605	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000334983	Transcript	.	.	ENSG00000153551	19178	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.467)	.	tolerated_low_confidence(0.07)	.	CKLF7_HUMAN	CMTM7	HGNC	.	.	UPI00000343F1	SNV	CMTM7,missense_variant,p.Gly19Glu,ENST00000349718,;CMTM7,missense_variant,p.Gly19Glu,ENST00000334983,;CMTM7,upstream_gene_variant,,ENST00000465248,;CMTM7,missense_variant,p.Gly19Glu,ENST00000454304,;	292	28	24	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913400	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	202	0	ENST00000349496.5:c.98C>T	p.Ser33Phe	p.S33F	ENST00000349496	NM_001904.3	33	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	98	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCTGGAA	SITE|p.S33F|c.98C>T|110,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.W25_D32del|c.74_97del24|4,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33A|c.97T>G|20,CODON|p.S33P|c.97T>C|61,CODON|p.S33C|c.98C>G|191,CODON|p.S33Y|c.98C>A|73,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5677,COSM5669,COSM5673	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(0.949)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	378	202	134	SUCCESS
CCR5	1234	.	GRCh37	3	46415374	46415374	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	67	90	0	ENST00000292303.4:c.981C>T	p.Phe327=	p.F327=	ENST00000292303	NM_001100168.1	327	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS2739.1	981	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCCAGCA	NONE	.	.	hmmpanther:PTHR24227:SF45,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01110	.	.	ENSP00000343985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000343801	Transcript	.	.	ENSG00000160791	1606	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR5_HUMAN	CCR5	HGNC	Q9UBT9_HUMAN,Q9P1T4_HUMAN,Q5KSY4_HUMAN,Q5EKN0_HUMAN,Q38L21_HUMAN,J7HJP8_HUMAN,E7BJ57_HUMAN,B8LFP0_HUMAN,B8LFN8_HUMAN,A1A490_HUMAN	.	UPI000000D955	SNV	CCR5,synonymous_variant,p.%3D,ENST00000292303,;CCR5,synonymous_variant,p.%3D,ENST00000343801,;CCR5,synonymous_variant,p.%3D,ENST00000445772,;RP11-24F11.2,intron_variant,,ENST00000451485,;	1338	90	103	SUCCESS
USP4	7375	.	GRCh37	3	49372977	49372977	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	42	128	1	ENST00000265560.4:c.154G>T	p.Asp52Tyr	p.D52Y	ENST00000265560	NM_003363.3	52	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS2793.1	154	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCAAAGC	NONE	.	.	PROSITE_profiles:PS51283,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF360,Gene3D:3jyuB01,Pfam_domain:PF06337,SMART_domains:SM00695,Superfamily_domains:0050384	.	.	ENSP00000265560	.	2/22	.	.	.	.	.	.	.	.	.	2/22	PASS	ENST00000265560	Transcript	.	.	ENSG00000114316	12627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0)	.	UBP4_HUMAN	USP4	HGNC	.	.	UPI000013D63C	SNV	USP4,missense_variant,p.Asp52Tyr,ENST00000351842,;USP4,missense_variant,p.Asp52Tyr,ENST00000265560,;USP4,missense_variant,p.Asp52Tyr,ENST00000415188,;USP4,missense_variant,p.Asp52Tyr,ENST00000416417,;USP4,non_coding_transcript_exon_variant,,ENST00000491791,;USP4,intron_variant,,ENST00000486549,;USP4,intron_variant,,ENST00000464168,;	201	129	137	SUCCESS
STAB1	23166	.	GRCh37	3	52554832	52554832	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	66	0	ENST00000321725.6:c.5719G>T	p.Ala1907Ser	p.A1907S	ENST00000321725	NM_015136.2	1907	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS33768.1	5719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGCCTGC	NONE	.	.	hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	.	.	ENSP00000312946	.	55/69	.	.	.	.	.	.	.	.	.	55/69	PASS	ENST00000321725	Transcript	.	.	ENSG00000010327	18628	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.88)	.	STAB1_HUMAN	STAB1	HGNC	.	.	UPI0000140C12	SNV	STAB1,missense_variant,p.Ala1907Ser,ENST00000321725,;NT5DC2,downstream_gene_variant,,ENST00000459839,;NT5DC2,downstream_gene_variant,,ENST00000422318,;NT5DC2,downstream_gene_variant,,ENST00000307076,;NT5DC2,downstream_gene_variant,,ENST00000307092,;STAB1,upstream_gene_variant,,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000463947,;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,;STAB1,downstream_gene_variant,,ENST00000461325,;NT5DC2,downstream_gene_variant,,ENST00000492555,;NT5DC2,downstream_gene_variant,,ENST00000479024,;STAB1,upstream_gene_variant,,ENST00000462741,;NT5DC2,downstream_gene_variant,,ENST00000462261,;NT5DC2,downstream_gene_variant,,ENST00000478091,;STAB1,upstream_gene_variant,,ENST00000462681,;NT5DC2,downstream_gene_variant,,ENST00000466112,;NT5DC2,downstream_gene_variant,,ENST00000469616,;	5795	66	30	SUCCESS
APPL1	26060	.	GRCh37	3	57282291	57282291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	152	242	0	ENST00000288266.3:c.775G>T	p.Asp259Tyr	p.D259Y	ENST00000288266	NM_012096.2	259	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS2882.1	775	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGATCCC	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF235,Superfamily_domains:SSF103657	.	.	ENSP00000288266	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000288266	Transcript	.	.	ENSG00000157500	24035	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.836)	.	deleterious(0)	.	DP13A_HUMAN	APPL1	HGNC	.	.	UPI00000712DA	SNV	APPL1,missense_variant,p.Asp259Tyr,ENST00000288266,;APPL1,non_coding_transcript_exon_variant,,ENST00000482800,;	922	242	244	SUCCESS
LRBA	987	.	GRCh37	4	151773243	151773243	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	117	0	ENST00000357115.3:c.3619C>G	p.Gln1207Glu	p.Q1207E	ENST00000357115	NM_006726.4	1207	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS3773.1	3619	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTGACCAA	NONE	.	.	hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64	.	.	ENSP00000349629	.	23/58	.	.	.	.	.	.	.	.	.	23/58	PASS	ENST00000357115	Transcript	1	.	ENSG00000198589	1742	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.91)	.	LRBA_HUMAN	LRBA	HGNC	Q7KZN3_HUMAN	.	UPI000013E35C	SNV	LRBA,missense_variant,p.Gln1207Glu,ENST00000535741,;LRBA,missense_variant,p.Gln1207Glu,ENST00000507224,;LRBA,missense_variant,p.Gln1207Glu,ENST00000357115,;LRBA,missense_variant,p.Gln1207Glu,ENST00000510413,;LRBA,upstream_gene_variant,,ENST00000509835,;LRBA,upstream_gene_variant,,ENST00000502839,;	3863	117	64	SUCCESS
MAP9	79884	.	GRCh37	4	156289671	156289671	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	75	131	0	ENST00000311277.4:c.708+67A>C		p.*236*	ENST00000311277	NM_001039580.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35493.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTTTTTCA	NONE	.	.	.	.	.	ENSP00000310593	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311277	Transcript	.	.	ENSG00000164114	26118	.	.	MODIFIER	5/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP9_HUMAN	MAP9	HGNC	C9JXH8_HUMAN,A2VCT0_HUMAN	.	UPI000020B618	SNV	MAP9,missense_variant,p.Lys186Gln,ENST00000379248,;MAP9,intron_variant,,ENST00000311277,;MAP9,intron_variant,,ENST00000515654,;MAP9,intron_variant,,ENST00000433024,;AC097467.2,intron_variant,,ENST00000597831,;AC097467.2,intron_variant,,ENST00000596165,;AC097467.2,downstream_gene_variant,,ENST00000600928,;AC097467.2,downstream_gene_variant,,ENST00000598890,;MAP9,intron_variant,,ENST00000424373,;MAP9,downstream_gene_variant,,ENST00000481250,;	.	131	81	SUCCESS
IL13	3596	.	GRCh37	5	131995416	131995416	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	4	81	0	ENST00000304506.3:c.229T>G	p.Tyr77Asp	p.Y77D	ENST00000304506	NM_002188.2	77	Tac/Gac	0	.	.	.	.	.	G	Y/D	protein_coding	YES	CCDS4157.1	229	MUTECT|MUSE	.	CACAGTACTGT	NONE	.	.	hmmpanther:PTHR11322,hmmpanther:PTHR11322:SF0,Gene3D:1.20.1250.10,SMART_domains:SM00190,Superfamily_domains:SSF47266,Prints_domain:PR01929	.	.	ENSP00000304915	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000304506	Transcript	1	.	ENSG00000169194	5973	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	deleterious(0.02)	.	IL13_HUMAN	IL13	HGNC	Q4VB53_HUMAN	.	UPI0000167822	SNV	IL13,missense_variant,p.Tyr77Asp,ENST00000304506,;AC004041.2,intron_variant,,ENST00000435042,;AC004041.2,upstream_gene_variant,,ENST00000417516,;AC004041.2,upstream_gene_variant,,ENST00000458509,;IL13,splice_region_variant,,ENST00000468334,;IL13,splice_region_variant,,ENST00000487267,;IL13,splice_region_variant,,ENST00000459878,;IL13,splice_region_variant,,ENST00000462480,;	243	81	97	SUCCESS
REEP2	51308	.	GRCh37	5	137780496	137780496	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1320724041	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	27	122	0	ENST00000254901.5:c.357G>A	p.Met119Ile	p.M119I	ENST00000254901		119	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS4205.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGATGAGGGT	NONE	.	.	hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF29	.	.	ENSP00000254901	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000254901	Transcript	1	.	ENSG00000132563	17975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	deleterious(0.01)	.	REEP2_HUMAN	REEP2	HGNC	B4DE60_HUMAN	.	UPI00001BD945	SNV	REEP2,missense_variant,p.Met119Ile,ENST00000378339,;REEP2,missense_variant,p.Met157Ile,ENST00000512126,;REEP2,missense_variant,p.Met81Ile,ENST00000506158,;REEP2,missense_variant,p.Met119Ile,ENST00000254901,;REEP2,downstream_gene_variant,,ENST00000464751,;REEP2,3_prime_UTR_variant,,ENST00000507511,;REEP2,non_coding_transcript_exon_variant,,ENST00000507635,;REEP2,non_coding_transcript_exon_variant,,ENST00000510467,;REEP2,upstream_gene_variant,,ENST00000504163,;REEP2,downstream_gene_variant,,ENST00000503379,;	479	122	150	SUCCESS
NDUFA2	4695	.	GRCh37	5	140027159	140027159	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370015250	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	34	47	0	ENST00000252102.4:c.10G>A	p.Ala4Thr	p.A4T	ENST00000252102	NM_001185012.1	4	Gcc/Acc	0	T:0.0002	.	.	.	.	T	A/T	protein_coding	YES	CCDS4234.1	10	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGCCGCCG	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12878,PIRSF_domain:PIRSF005822	.	T:0	ENSP00000252102	.	1/3	.	.	.	.	.	.	.	.	rs370015250	1/3	PASS	ENST00000252102	Transcript	1	.	ENSG00000131495	7685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.251)	.	deleterious(0.02)	.	NDUA2_HUMAN	NDUFA2	HGNC	.	.	UPI000013CD3E	SNV	NDUFA2,missense_variant,p.Ala4Thr,ENST00000252102,;NDUFA2,missense_variant,p.Ala4Thr,ENST00000512088,;IK,intron_variant,,ENST00000513256,;TMCO6,downstream_gene_variant,,ENST00000394671,;IK,upstream_gene_variant,,ENST00000502899,;IK,upstream_gene_variant,,ENST00000417647,;TMCO6,downstream_gene_variant,,ENST00000252100,;IK,upstream_gene_variant,,ENST00000508301,;IK,upstream_gene_variant,,ENST00000507593,;TMCO6,downstream_gene_variant,,ENST00000537378,;MIR3655,upstream_gene_variant,,ENST00000581765,;IK,upstream_gene_variant,,ENST00000523672,;NDUFA2,upstream_gene_variant,,ENST00000510680,;NDUFA2,non_coding_transcript_exon_variant,,ENST00000502960,;IK,upstream_gene_variant,,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000509269,;IK,upstream_gene_variant,,ENST00000512827,;TMCO6,downstream_gene_variant,,ENST00000515653,;TMCO6,downstream_gene_variant,,ENST00000504069,;TMCO6,downstream_gene_variant,,ENST00000510336,;TMCO6,downstream_gene_variant,,ENST00000509605,;TMCO6,downstream_gene_variant,,ENST00000515265,;	212	47	63	SUCCESS
PCDHA2	56146	.	GRCh37	5	140176350	140176350	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	52	124	1	ENST00000526136.1:c.1801T>A	p.Ser601Thr	p.S601T	ENST00000526136	NM_018905.2	601	Tca/Aca	0	.	.	.	.	.	A	S/T	protein_coding	YES	CCDS54914.1	1801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACTCAGGC	BUFFER|p.N604N|c.1812C>T|3,BUFFER|p.N604N|c.1812C>T|3	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000431748	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526136	Transcript	.	.	ENSG00000204969	8668	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.977)	.	deleterious_low_confidence(0)	.	PCDA2_HUMAN	PCDHA2	HGNC	.	.	UPI00001273C9	SNV	PCDHA2,missense_variant,p.Ser601Thr,ENST00000378132,;PCDHA2,missense_variant,p.Ser601Thr,ENST00000526136,;PCDHA2,missense_variant,p.Ser601Thr,ENST00000520672,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,upstream_gene_variant,,ENST00000532566,;PCDHA3,upstream_gene_variant,,ENST00000522353,;	1801	125	129	SUCCESS
PCDHGA12	26025	.	GRCh37	5	140810476	140810476	+	synonymous_variant	Silent	SNP	G	G	A	rs1054175762	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	148	134	234	0	ENST00000252085.3:c.150G>A	p.Arg50=	p.R50=	ENST00000252085	NM_003735.2	50	agG/agA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS4260.1	150	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGGACCT	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000252085	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000252085	Transcript	.	.	ENSG00000253159	8699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDGC_HUMAN	PCDHGA12	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073EA1	SNV	PCDHGA12,synonymous_variant,p.%3D,ENST00000252085,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA11,intron_variant,,ENST00000398587,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	292	234	283	SUCCESS
ARAP3	64411	.	GRCh37	5	141033973	141033973	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	32	0	ENST00000239440.4:c.4179G>T	p.Glu1393Asp	p.E1393D	ENST00000239440	NM_022481.5	1393	gaG/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS4266.1	4179	MUTECT|MUSE	.	TGCTCCTCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9	.	.	ENSP00000239440	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.12)	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,missense_variant,p.Glu1224Asp,ENST00000508305,;ARAP3,missense_variant,p.Glu1393Asp,ENST00000239440,;ARAP3,missense_variant,p.Glu1042Asp,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000522783,;FCHSD1,upstream_gene_variant,,ENST00000435817,;FCHSD1,upstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000522126,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	4245	32	27	SUCCESS
GLRA1	2741	.	GRCh37	5	151271886	151271886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	74	124	0	ENST00000455880.2:c.170G>T	p.Arg57Met	p.R57M	ENST00000455880		57	aGg/aTg	0	.	.	.	.	.	A	R/M	protein_coding	YES	CCDS54942.1	170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTGATC	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF213,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000411593	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000455880	Transcript	1	.	ENSG00000145888	4326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	GLRA1_HUMAN	GLRA1	HGNC	.	.	UPI0000DA6BF2	SNV	GLRA1,missense_variant,p.Arg57Met,ENST00000455880,;GLRA1,missense_variant,p.Arg57Met,ENST00000274576,;GLRA1,intron_variant,,ENST00000545569,;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,intron_variant,,ENST00000462581,;	457	124	154	SUCCESS
HAND1	9421	.	GRCh37	5	153857306	153857306	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	34	56	0	ENST00000231121.2:c.263T>A	p.Leu88His	p.L88H	ENST00000231121	NM_004821.2	88	cTt/cAt	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS4327.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCAAGCGCC	NONE	.	.	hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF3,Low_complexity_(Seg):seg	.	.	ENSP00000231121	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000231121	Transcript	.	.	ENSG00000113196	4807	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.839)	.	tolerated(0.41)	.	HAND1_HUMAN	HAND1	HGNC	.	.	UPI000012C083	SNV	HAND1,missense_variant,p.Leu88His,ENST00000231121,;	519	56	59	SUCCESS
CANX	821	.	GRCh37	5	179146764	179146764	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	102	215	0	ENST00000247461.4:c.1007C>G	p.Ala336Gly	p.A336G	ENST00000247461	NM_001746.3	336	gCa/gGa	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS4447.1	1007	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACGCAGAGA	NONE	.	.	hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF11,PROSITE_patterns:PS00805,Pfam_domain:PF00262,Gene3D:2.10.250.10,Superfamily_domains:SSF63887,Prints_domain:PR00626	.	.	ENSP00000247461	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000247461	Transcript	.	.	ENSG00000127022	1473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.537)	.	deleterious(0.01)	.	CALX_HUMAN	CANX	HGNC	D6RHJ3_HUMAN,D6RFW4_HUMAN,D6RFL1_HUMAN,D6RDP7_HUMAN,D6RB85_HUMAN,D6RAU8_HUMAN,D6RAQ8_HUMAN,B4E2T8_HUMAN	.	UPI000000D9F9	SNV	CANX,missense_variant,p.Ala336Gly,ENST00000247461,;CANX,missense_variant,p.Ala371Gly,ENST00000415618,;CANX,missense_variant,p.Ala336Gly,ENST00000504734,;CANX,missense_variant,p.Ala228Gly,ENST00000512607,;CANX,missense_variant,p.Ala336Gly,ENST00000452673,;CANX,missense_variant,p.Ala272Gly,ENST00000502673,;CANX,downstream_gene_variant,,ENST00000508787,;CANX,downstream_gene_variant,,ENST00000503126,;CANX,3_prime_UTR_variant,,ENST00000514032,;CANX,upstream_gene_variant,,ENST00000505090,;CANX,downstream_gene_variant,,ENST00000506298,;	1207	215	246	SUCCESS
SPEF2	79925	.	GRCh37	5	35700832	35700832	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	23	106	0	ENST00000356031.3:c.2376G>A	p.Met792Ile	p.M792I	ENST00000356031	NM_024867.3	792	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS43309.1	2376	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATGAGTCG	NONE	.	.	hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000348314	.	16/37	.	.	.	.	.	.	.	.	COSM387545	16/37	PASS	ENST00000356031	Transcript	.	.	ENSG00000152582	26293	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.001)	.	tolerated(0.07)	1	SPEF2_HUMAN	SPEF2	HGNC	.	.	UPI0001505B9F	SNV	SPEF2,missense_variant,p.Met787Ile,ENST00000440995,;SPEF2,missense_variant,p.Met298Ile,ENST00000504054,;SPEF2,missense_variant,p.Met787Ile,ENST00000509059,;SPEF2,missense_variant,p.Met792Ile,ENST00000356031,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,missense_variant,p.Met36Ile,ENST00000508817,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;	2530	106	121	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60827372	60827372	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	105	194	0	ENST00000252744.5:c.2065A>T	p.Thr689Ser	p.T689S	ENST00000252744	NM_020928.1	689	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS47215.1	2065	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAACGCTG	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.74)	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,missense_variant,p.Thr689Ser,ENST00000252744,;	2065	194	235	SUCCESS
ALDH8A1	64577	.	GRCh37	6	135239910	135239910	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	55	112	0	ENST00000265605.2:c.1107A>G	p.Ala369=	p.A369=	ENST00000265605	NM_022568.3	369	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS5171.1	1107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCTGCCTG	NONE	.	.	hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF42,Gene3D:3.40.309.10,Pfam_domain:PF00171,Superfamily_domains:SSF53720	.	.	ENSP00000265605	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000265605	Transcript	.	.	ENSG00000118514	15471	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AL8A1_HUMAN	ALDH8A1	HGNC	.	.	UPI000004F8AE	SNV	ALDH8A1,synonymous_variant,p.%3D,ENST00000367847,;ALDH8A1,synonymous_variant,p.%3D,ENST00000460753,;ALDH8A1,synonymous_variant,p.%3D,ENST00000367845,;ALDH8A1,synonymous_variant,p.%3D,ENST00000265605,;ALDH8A1,3_prime_UTR_variant,,ENST00000349305,;	1176	112	66	SUCCESS
CCDC170	80129	.	GRCh37	6	151936741	151936741	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	182	318	0	ENST00000239374.7:c.1874T>C	p.Met625Thr	p.M625T	ENST00000239374	NM_025059.3	625	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS43515.1	1874	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACATGATAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18863,hmmpanther:PTHR18863:SF4	.	.	ENSP00000239374	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000239374	Transcript	.	.	ENSG00000120262	21177	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.06)	.	CC170_HUMAN	CCDC170	HGNC	.	.	UPI000020D0BA	SNV	CCDC170,missense_variant,p.Met625Thr,ENST00000239374,;CCDC170,missense_variant,p.Met632Thr,ENST00000367290,;RNU6-813P,downstream_gene_variant,,ENST00000384691,;CCDC170,downstream_gene_variant,,ENST00000537358,;	1973	318	209	SUCCESS
FNDC1	84624	.	GRCh37	6	159642682	159642682	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	47	96	0	ENST00000297267.9:c.720G>T	p.Arg240=	p.R240=	ENST00000297267	NM_032532.2	240	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS47512.1	720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGGAGCCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000297267	.	6/23	.	.	.	.	.	.	.	.	.	6/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,synonymous_variant,p.%3D,ENST00000340366,;FNDC1,synonymous_variant,p.%3D,ENST00000297267,;FNDC1,synonymous_variant,p.%3D,ENST00000329629,;FNDC1,non_coding_transcript_exon_variant,,ENST00000480856,;	920	96	54	SUCCESS
QKI	9444	.	GRCh37	6	163984896	163984896	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	12	20	0	ENST00000361752.3:c.934+145A>T		p.*312*	ENST00000361752	NM_006775.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCAGCCTC	NONE	.	.	.	.	.	ENSP00000355094	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361752	Transcript	.	.	ENSG00000112531	21100	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QKI_HUMAN	QKI	HGNC	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN	.	UPI0000029EBD	SNV	QKI,3_prime_UTR_variant,,ENST00000392127,;QKI,intron_variant,,ENST00000544361,;QKI,intron_variant,,ENST00000424802,;QKI,intron_variant,,ENST00000361195,;QKI,intron_variant,,ENST00000453779,;QKI,intron_variant,,ENST00000537883,;QKI,intron_variant,,ENST00000275262,;QKI,intron_variant,,ENST00000361752,;QKI,downstream_gene_variant,,ENST00000544823,;QKI,downstream_gene_variant,,ENST00000537041,;QKI,intron_variant,,ENST00000540719,;QKI,intron_variant,,ENST00000361758,;QKI,intron_variant,,ENST00000545607,;QKI,upstream_gene_variant,,ENST00000541696,;	.	20	21	SUCCESS
PRR18	285800	.	GRCh37	6	166721359	166721359	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs887694080	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	13	0	ENST00000322583.3:c.272C>T	p.Ala91Val	p.A91V	ENST00000322583	NM_175922.3	91	gCc/gTc	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS5291.1	272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCGCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10994:SF9,hmmpanther:PTHR10994	.	.	ENSP00000319590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322583	Transcript	.	.	ENSG00000176381	28574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.682)	.	tolerated(0.5)	.	PRR18_HUMAN	PRR18	HGNC	E9PL31_HUMAN	.	UPI0000140E82	SNV	PRR18,missense_variant,p.Ala91Val,ENST00000529616,;PRR18,missense_variant,p.Ala91Val,ENST00000322583,;	513	13	32	SUCCESS
THBS2	7058	.	GRCh37	6	169621547	169621547	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	37	0	ENST00000366787.3:c.3349A>G	p.Arg1117Gly	p.R1117G	ENST00000366787	NM_003247.2	1117	Agg/Ggg	0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS34574.1	3349	MUTECT|MUSE	.	GGGCCTGTGAG	BUFFER|p.T1120T|c.3360T>C|3	.	.	PROSITE_profiles:PS51236,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,Pfam_domain:PF05735,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	.	.	ENSP00000355751	.	21/23	.	.	.	.	.	.	.	.	COSM247816	21/23	PASS	ENST00000366787	Transcript	.	.	ENSG00000186340	11786	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	probably_damaging(0.994)	.	deleterious(0)	1	TSP2_HUMAN	THBS2	HGNC	Q6MZL6_HUMAN,Q5RI53_HUMAN	.	UPI0000231C7F	SNV	THBS2,missense_variant,p.Arg1117Gly,ENST00000366787,;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,non_coding_transcript_exon_variant,,ENST00000488355,;	3599	37	46	SUCCESS
WDR27	253769	.	GRCh37	6	170043854	170043854	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	34	103	0	ENST00000448612.1:c.1686G>T	p.Leu562Phe	p.L562F	ENST00000448612	NM_182552.4	562	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS47520.2	1686	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCAACCC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF313,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998,Superfamily_domains:SSF50978	.	.	ENSP00000416289	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000448612	Transcript	.	.	ENSG00000184465	21248	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	.	deleterious(0.03)	.	WDR27_HUMAN	WDR27	HGNC	F8VUY7_HUMAN	.	UPI00015E06AF	SNV	WDR27,missense_variant,p.Leu562Phe,ENST00000448612,;WDR27,missense_variant,p.Leu562Phe,ENST00000333572,;WDR27,missense_variant,p.Leu435Phe,ENST00000423258,;WDR27,downstream_gene_variant,,ENST00000441385,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;WDR27,non_coding_transcript_exon_variant,,ENST00000546525,;	1796	103	81	SUCCESS
FAM65B	0	.	GRCh37	6	24847799	24847799	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1484965596	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	20	61	1	ENST00000259698.4:c.1198C>T	p.Pro400Ser	p.P400S	ENST00000259698	NM_014722.2	400	Ccg/Tcg	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47383.1	1198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCGGCCTGA	NONE	.	.	hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2	.	.	ENSP00000259698	.	13/23	.	.	.	.	.	.	.	.	.	13/23	PASS	ENST00000259698	Transcript	.	.	ENSG00000111913	13872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.7)	.	FA65B_HUMAN	FAM65B	HGNC	H3BP45_HUMAN	.	UPI0000EE554D	SNV	FAM65B,missense_variant,p.Pro400Ser,ENST00000259698,;FAM65B,intron_variant,,ENST00000538035,;FAM65B,intron_variant,,ENST00000378023,;FAM65B,intron_variant,,ENST00000540914,;FAM65B,intron_variant,,ENST00000510784,;FAM65B,upstream_gene_variant,,ENST00000473070,;	1374	62	90	SUCCESS
DST	667	.	GRCh37	6	56505183	56505183	+	synonymous_variant	Silent	SNP	G	G	A	rs1169664973	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	99	145	0	ENST00000244364.6:c.637C>T	p.Leu213=	p.L213=	ENST00000244364	NM_015548.4	213	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS47443.1	637	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACAGGCCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38	.	.	ENSP00000244364	.	4/84	.	.	.	.	.	.	.	.	.	4/84	PASS	ENST00000244364	Transcript	.	.	ENSG00000151914	1090	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,synonymous_variant,p.%3D,ENST00000439203,;DST,synonymous_variant,p.%3D,ENST00000370754,;DST,synonymous_variant,p.%3D,ENST00000370769,;DST,synonymous_variant,p.%3D,ENST00000312431,;DST,synonymous_variant,p.%3D,ENST00000421834,;DST,synonymous_variant,p.%3D,ENST00000446842,;DST,synonymous_variant,p.%3D,ENST00000244364,;DST,synonymous_variant,p.%3D,ENST00000370788,;DST,synonymous_variant,p.%3D,ENST00000520645,;DST,synonymous_variant,p.%3D,ENST00000361203,;DST,synonymous_variant,p.%3D,ENST00000370765,;DST,synonymous_variant,p.%3D,ENST00000518935,;DST,downstream_gene_variant,,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;	845	145	202	SUCCESS
DSP	1832	.	GRCh37	6	7541872	7541872	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	10	0	ENST00000379802.3:c.-277G>T		p.*93*	ENST00000379802	NM_004415.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4501.1	.	MUTECT|MUSE	.	CCGCCGACCAA	NONE	.	.	.	.	.	ENSP00000369129	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000379802	Transcript	.	.	ENSG00000096696	3052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DESP_HUMAN	DSP	HGNC	G1UI31_HUMAN,B4DKX6_HUMAN	.	UPI000013C67F	SNV	DSP,5_prime_UTR_variant,,ENST00000379802,;DSP,5_prime_UTR_variant,,ENST00000418664,;RP3-512B11.3,upstream_gene_variant,,ENST00000561592,;	65	10	8	SUCCESS
GPR63	81491	.	GRCh37	6	97247593	97247593	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	70	100	0	ENST00000229955.3:c.15A>T	p.Ala5=	p.A5=	ENST00000229955	NM_030784.3	5	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS5036.1	15	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACTGCCGA	NONE	.	.	.	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,synonymous_variant,p.%3D,ENST00000417980,;GPR63,synonymous_variant,p.%3D,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	361	100	83	SUCCESS
CCDC71L	168455	.	GRCh37	7	106301219	106301220	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	AC	AC	.	.	.	.	.	.	.	.	.	.	.	.	.	95	33	84	0	ENST00000523505.1:c.123_124del	p.Tyr42LeufsTer9	p.Y42Lfs*9	ENST00000523505	NM_175884.4	41	gtGTac/gtac	0	.	.	.	.	.	-	VY/VX	protein_coding	YES	CCDS55151.1	123-124	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGAGTACACCAC	NONE	.	.	hmmpanther:PTHR14484,Pfam_domain:PF15374	.	.	ENSP00000430897	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000523505	Transcript	.	.	ENSG00000253276	26685	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC71L_HUMAN	CCDC71L	HGNC	.	.	UPI00003CF1DF	deletion	CCDC71L,frameshift_variant,p.Tyr42LeufsTer9,ENST00000523505,;CTB-111H14.1,intron_variant,,ENST00000592441,;CTB-111H14.1,intron_variant,,ENST00000490856,;AC004917.1,non_coding_transcript_exon_variant,,ENST00000315965,;	223-224	84	128	SUCCESS
FOXP2	93986	.	GRCh37	7	114284933	114284933	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	26	0	ENST00000350908.4:c.1094+89G>T		p.*365*	ENST00000350908				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43635.1	.	MUTECT|MUSE	.	AAGGAGGAATG	NONE	.	.	.	.	.	ENSP00000386200	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408937	Transcript	.	.	ENSG00000128573	13875	.	.	MODIFIER	9/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXP2_HUMAN	FOXP2	HGNC	.	.	UPI000007412B	SNV	FOXP2,3_prime_UTR_variant,,ENST00000378237,;FOXP2,intron_variant,,ENST00000360232,;FOXP2,intron_variant,,ENST00000393489,;FOXP2,intron_variant,,ENST00000393500,;FOXP2,intron_variant,,ENST00000408937,;FOXP2,intron_variant,,ENST00000393498,;FOXP2,intron_variant,,ENST00000390668,;FOXP2,intron_variant,,ENST00000393491,;FOXP2,intron_variant,,ENST00000403559,;FOXP2,intron_variant,,ENST00000393494,;FOXP2,intron_variant,,ENST00000350908,;FOXP2,downstream_gene_variant,,ENST00000393495,;FOXP2,intron_variant,,ENST00000441290,;FOXP2,intron_variant,,ENST00000412402,;	.	26	23	SUCCESS
GPR37	2861	.	GRCh37	7	124404436	124404436	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	106	0	ENST00000303921.2:c.595A>T	p.Lys199Ter	p.K199*	ENST00000303921	NM_005302.3	199	Aag/Tag	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS5792.1	595	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTTGGACA	NONE	.	.	hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF32	.	.	ENSP00000306449	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000303921	Transcript	.	.	ENSG00000170775	4494	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR37_HUMAN	GPR37	HGNC	.	.	UPI0000001C92	SNV	GPR37,stop_gained,p.Lys199Ter,ENST00000303921,;	1246	106	98	SUCCESS
ATG9B	285973	.	GRCh37	7	150720535	150720535	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	66	104	0	ENST00000377974.2:c.656T>A	p.Leu219Gln	p.L219Q	ENST00000377974		219	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	.	656	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCAGCTGG	NONE	.	.	hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038	.	.	ENSP00000475005	.	3/18	.	.	.	.	.	.	.	.	.	3/18	PASS	ENST00000377974	Transcript	.	.	ENSG00000181652	21899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0.01)	.	.	ATG9B	HGNC	S4R430_HUMAN	.	UPI00015E055A	SNV	ATG9B,missense_variant,p.Leu219Gln,ENST00000605952,;ATG9B,missense_variant,p.Leu219Gln,ENST00000605938,;ATG9B,missense_variant,p.Leu219Gln,ENST00000377974,;ATG9B,5_prime_UTR_variant,,ENST00000444312,;ABCB8,upstream_gene_variant,,ENST00000461373,;ABCB8,upstream_gene_variant,,ENST00000358849,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000466157,;ATG9B,non_coding_transcript_exon_variant,,ENST00000486407,;ATG9B,upstream_gene_variant,,ENST00000464855,;ABCB8,upstream_gene_variant,,ENST00000488826,;ATG9B,upstream_gene_variant,,ENST00000473698,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000489192,;ABCB8,upstream_gene_variant,,ENST00000482309,;	732	104	156	SUCCESS
CRYGN	155051	.	GRCh37	7	151127230	151127230	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	56	125	0	ENST00000337323.2:c.453C>G	p.Phe151Leu	p.F151L	ENST00000337323	NM_144727.1	151	ttC/ttG	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS5926.1	453	RADIA|MUTECT|MUSE	.	AGCTGGAAGTC	NONE	.	.	.	.	.	ENSP00000338613	.	4/4	.	.	.	.	.	.	.	.	COSM3636388	4/4	PASS	ENST00000337323	Transcript	.	.	ENSG00000127377	20458	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	possibly_damaging(0.787)	.	deleterious_low_confidence(0.01)	1	CRGN_HUMAN	CRYGN	HGNC	.	.	UPI000006F59A	SNV	CRYGN,missense_variant,p.Phe151Leu,ENST00000337323,;CRYGN,3_prime_UTR_variant,,ENST00000491928,;MIR3907,downstream_gene_variant,,ENST00000579424,;RP4-555L14.4,intron_variant,,ENST00000465549,;CRYGN,non_coding_transcript_exon_variant,,ENST00000462809,;CRYGN,non_coding_transcript_exon_variant,,ENST00000476631,;CRYGN,downstream_gene_variant,,ENST00000478106,;	580	125	132	SUCCESS
SUGCT	79783	.	GRCh37	7	40174664	40174664	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	58	215	0	ENST00000335693.4:c.66C>A	p.Cys22Ter	p.C22*	ENST00000335693	NM_001193313.1	22	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS55104.1	66	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCCTCTT	NONE	.	.	hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6	.	.	ENSP00000312054	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000309930	Transcript	.	.	ENSG00000175600	16001	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUCHY_HUMAN	SUGCT	HGNC	Q9Y6U8_HUMAN,Q75MU8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN	.	UPI000013EF6B	SNV	SUGCT,stop_gained,p.Cys15Ter,ENST00000540834,;SUGCT,stop_gained,p.Cys22Ter,ENST00000309930,;SUGCT,stop_gained,p.Cys22Ter,ENST00000335693,;SUGCT,stop_gained,p.Cys17Ter,ENST00000416370,;SUGCT,stop_gained,p.Cys22Ter,ENST00000401647,;SUGCT,missense_variant,p.Pro18Thr,ENST00000413931,;MPLKIP,upstream_gene_variant,,ENST00000306984,;SUGCT,stop_gained,p.Cys22Ter,ENST00000444074,;	90	215	258	SUCCESS
CAMK2B	816	.	GRCh37	7	44269027	44269027	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	385	10	400	0	ENST00000395749.2:c.1299C>A	p.Pro433=	p.P433=	ENST00000395749	NM_001220.4	433	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS5483.1	1299	MUTECT|MUSE	.	GGGCAGGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF107	.	.	ENSP00000379098	.	18/24	.	.	.	.	.	.	.	.	.	18/24	PASS	ENST00000395749	Transcript	.	.	ENSG00000058404	1461	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCC2B_HUMAN	CAMK2B	HGNC	Q75LA8_HUMAN,Q75KE9_HUMAN,D3DVK8_HUMAN,A4D2J9_HUMAN	.	UPI0000164A3E	SNV	CAMK2B,synonymous_variant,p.%3D,ENST00000395749,;CAMK2B,intron_variant,,ENST00000433930,;CAMK2B,intron_variant,,ENST00000258682,;CAMK2B,intron_variant,,ENST00000353625,;CAMK2B,intron_variant,,ENST00000457475,;CAMK2B,intron_variant,,ENST00000502837,;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000346990,;CAMK2B,intron_variant,,ENST00000350811,;CAMK2B,intron_variant,,ENST00000440254,;CAMK2B,intron_variant,,ENST00000358707,;CAMK2B,intron_variant,,ENST00000347193,;CAMK2B,upstream_gene_variant,,ENST00000425809,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000489429,;CAMK2B,intron_variant,,ENST00000497584,;CAMK2B,intron_variant,,ENST00000523845,;CAMK2B,intron_variant,,ENST00000353185,;	1376	400	395	SUCCESS
EGFR	1956	.	GRCh37	7	55273161	55273161	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	249	10	165	0	ENST00000275493.2:c.3484A>T	p.Ser1162Cys	p.S1162C	ENST00000275493	NM_005228.3	1162	Agc/Tgc	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS5514.1	3484	MUTECT|MUSE	.	AAGGCAGCCAC	NONE	.	.	PIRSF_domain:PIRSF000619	.	.	ENSP00000275493	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000275493	Transcript	.	.	ENSG00000146648	3236	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.287)	.	deleterious(0.04)	.	EGFR_HUMAN	EGFR	HGNC	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN	.	UPI000003E750	SNV	EGFR,missense_variant,p.Ser1109Cys,ENST00000454757,;EGFR,missense_variant,p.Ser1162Cys,ENST00000275493,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000485503,;	3661	165	259	SUCCESS
RP11-760D2.5	0	.	GRCh37	7	56604510	56604511	+	non_coding_transcript_exon_variant	RNA	DEL	AG	AG	-	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	13	0	ENST00000429367.1:n.153_154del		p.*51*	ENST00000429367				0	.	.	.	.	.	-	.	lincRNA	YES	.	.	INDELOCATOR|VARSCANI	.	CTGCACAGATCTG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000429367	Transcript	.	.	ENSG00000233288	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-760D2.5	Clone_based_vega_gene	.	.	.	deletion	RP11-760D2.5,non_coding_transcript_exon_variant,,ENST00000429367,;	153-154	13	21	SUCCESS
RP11-760D2.5	0	.	GRCh37	7	56604514	56604514	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	12	0	ENST00000429367.1:n.150G>A		p.*50*	ENST00000429367				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|VARSCANS	.	CAGATCTGAGG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000429367	Transcript	.	.	ENSG00000233288	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-760D2.5	Clone_based_vega_gene	.	.	.	SNV	RP11-760D2.5,non_coding_transcript_exon_variant,,ENST00000429367,;	150	12	20	SUCCESS
PRKAR1B	5575	.	GRCh37	7	635936	635936	+	synonymous_variant	Silent	SNP	G	G	A	rs756315463	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	48	0	ENST00000360274.4:c.555C>T	p.Tyr185=	p.Y185=	ENST00000360274	NM_002735.2	185	taC/taT	0	.	.	.	.	.	A	Y	protein_coding	YES	CCDS34579.1	555	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCACGTACAC	NONE	byFrequency	.	PROSITE_profiles:PS50042,hmmpanther:PTHR11635:SF126,hmmpanther:PTHR11635,Gene3D:2.60.120.10,Pfam_domain:PF00027,PIRSF_domain:PIRSF000548,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00103	.	.	ENSP00000385749	.	7/11	.	.	.	.	.	.	.	.	rs756315463	7/11	PASS	ENST00000406797	Transcript	.	.	ENSG00000188191	9390	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAP1_HUMAN	PRKAR1B	HGNC	C9JSK5_HUMAN,C9J4C2_HUMAN,C9IZL8_HUMAN	.	UPI000021C478	SNV	PRKAR1B,synonymous_variant,p.%3D,ENST00000403562,;PRKAR1B,synonymous_variant,p.%3D,ENST00000406797,;PRKAR1B,synonymous_variant,p.%3D,ENST00000544935,;PRKAR1B,synonymous_variant,p.%3D,ENST00000414568,;PRKAR1B,synonymous_variant,p.%3D,ENST00000400758,;PRKAR1B,synonymous_variant,p.%3D,ENST00000430040,;PRKAR1B,synonymous_variant,p.%3D,ENST00000360274,;PRKAR1B,synonymous_variant,p.%3D,ENST00000537384,;	730	48	36	SUCCESS
ZNF853	54753	.	GRCh37	7	6655579	6655579	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	9	0	ENST00000457543.3:c.-227T>C		p.*76*	ENST00000457543	NM_017560.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59048.1	.	MUTECT|MUSE	.	ACTTCTGCTCG	NONE	.	.	.	.	.	ENSP00000455585	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000457543	Transcript	.	.	ENSG00000236609	21767	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN853_HUMAN	ZNF853	HGNC	.	.	UPI00018E24EF	SNV	ZNF853,5_prime_UTR_variant,,ENST00000457543,;	332	9	18	SUCCESS
MTERF	0	.	GRCh37	7	91503579	91503579	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	54	132	0	ENST00000351870.3:c.529G>T	p.Glu177Ter	p.E177*	ENST00000351870	NM_006980.3	177	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5621.1	529	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCTCTAAGT	NONE	.	.	SMART_domains:SM00733,Pfam_domain:PF02536,hmmpanther:PTHR15437:SF2,hmmpanther:PTHR15437,Low_complexity_(Seg):seg	.	.	ENSP00000248643	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000351870	Transcript	.	.	ENSG00000127989	21463	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTERF_HUMAN	MTERF	HGNC	C9JU79_HUMAN,C9JNM8_HUMAN,C9JE25_HUMAN,B4DPR9_HUMAN	.	UPI000004A0C8	SNV	MTERF,stop_gained,p.Glu157Ter,ENST00000419292,;MTERF,stop_gained,p.Glu177Ter,ENST00000351870,;MTERF,stop_gained,p.Glu157Ter,ENST00000406735,;MTERF,downstream_gene_variant,,ENST00000456229,;MTERF,downstream_gene_variant,,ENST00000425936,;MTERF,downstream_gene_variant,,ENST00000442961,;MTERF,intron_variant,,ENST00000454222,;MTERF,downstream_gene_variant,,ENST00000481516,;	623	132	190	SUCCESS
ERVW-1	30816	.	GRCh37	7	92099220	92099220	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145463274	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	35	0	ENST00000493463.2:c.476G>A	p.Arg159His	p.R159H	ENST00000493463	NM_014590.3	159	cGt/cAt	0	T:0	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS5626.1	476	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTACGGAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF41,Pfam_domain:PF00429	T:0	T:0.0001	ENSP00000419945	T:0.001	1/1	.	.	.	.	.	.	.	.	rs145463274	1/1	PASS	ENST00000493463	Transcript	.	T:0.0002	ENSG00000242950	13525	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.681)	T:0	tolerated(0.1)	.	ENW1_HUMAN	ERVW-1	HGNC	Q9UQF1_HUMAN,Q96TB5_HUMAN,D0EYG5_HUMAN	.	UPI00000389BB	SNV	ERVW-1,missense_variant,p.Arg159His,ENST00000603053,;ERVW-1,missense_variant,p.Arg159His,ENST00000493463,;AC007566.10,intron_variant,,ENST00000427458,;ERVW-1,intron_variant,,ENST00000603704,;ERVW-1,intron_variant,,ENST00000604270,;ERVW-1,downstream_gene_variant,,ENST00000603252,;	1400	35	29	SUCCESS
STAG3	10734	.	GRCh37	7	99797925	99797925	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	26	86	0	ENST00000317296.5:c.1744C>T	p.Pro582Ser	p.P582S	ENST00000317296	NM_012447.2	582	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS34703.1	1744	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCCCCCTG	NONE	.	.	hmmpanther:PTHR11199:SF4,hmmpanther:PTHR11199,Gene3D:1.25.10.10	.	.	ENSP00000400359	.	17/34	.	.	.	.	.	.	.	.	.	17/34	PASS	ENST00000426455	Transcript	.	.	ENSG00000066923	11356	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.31)	.	tolerated(0.76)	.	STAG3_HUMAN	STAG3	HGNC	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN	.	UPI000020F6E0	SNV	STAG3,missense_variant,p.Pro582Ser,ENST00000426455,;STAG3,missense_variant,p.Pro524Ser,ENST00000394018,;STAG3,missense_variant,p.Pro582Ser,ENST00000317296,;STAG3,upstream_gene_variant,,ENST00000412190,;GATS,downstream_gene_variant,,ENST00000436886,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;GATS,downstream_gene_variant,,ENST00000414997,;GATS,downstream_gene_variant,,ENST00000454084,;GATS,downstream_gene_variant,,ENST00000543273,;GATS,downstream_gene_variant,,ENST00000437485,;GATS,downstream_gene_variant,,ENST00000440058,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,non_coding_transcript_exon_variant,,ENST00000476057,;STAG3,non_coding_transcript_exon_variant,,ENST00000479359,;STAG3,downstream_gene_variant,,ENST00000477469,;	2151	86	120	SUCCESS
PTK2	5747	.	GRCh37	8	141678423	141678423	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	38	144	0	ENST00000521059.1:c.2810A>C	p.Glu937Ala	p.E937A	ENST00000521059	NM_005607.4	937	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS56557.1	2849	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCTCGATG	NONE	.	.	hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,Gene3D:1.20.5.540,Pfam_domain:PF03623,Superfamily_domains:SSF68993	.	.	ENSP00000341189	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000340930	Transcript	.	.	ENSG00000169398	9611	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.48)	.	FAK1_HUMAN	PTK2	HGNC	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN	.	UPI0001E8F57E	SNV	PTK2,missense_variant,p.Glu605Ala,ENST00000538769,;PTK2,missense_variant,p.Glu565Ala,ENST00000519465,;PTK2,missense_variant,p.Glu902Ala,ENST00000519654,;PTK2,missense_variant,p.Glu937Ala,ENST00000521059,;PTK2,missense_variant,p.Glu950Ala,ENST00000340930,;PTK2,missense_variant,p.Glu981Ala,ENST00000519419,;PTK2,missense_variant,p.Glu950Ala,ENST00000395218,;PTK2,missense_variant,p.Glu247Ala,ENST00000430260,;PTK2,missense_variant,p.Glu891Ala,ENST00000535192,;PTK2,missense_variant,p.Glu638Ala,ENST00000521986,;PTK2,missense_variant,p.Glu609Ala,ENST00000523539,;PTK2,missense_variant,p.Glu981Ala,ENST00000517887,;PTK2,missense_variant,p.Glu937Ala,ENST00000522684,;PTK2,5_prime_UTR_variant,,ENST00000517712,;PTK2,non_coding_transcript_exon_variant,,ENST00000523805,;PTK2,non_coding_transcript_exon_variant,,ENST00000520460,;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000519993,;	3004	144	129	SUCCESS
MAFA	389692	.	GRCh37	8	144512551	144512551	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	37	0	ENST00000333480.2:c.26C>A	p.Ala9Asp	p.A9D	ENST00000333480	NM_201589.3	9	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS34955.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGCGCCC	NONE	.	.	hmmpanther:PTHR10129,hmmpanther:PTHR10129:SF24	.	.	ENSP00000328364	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333480	Transcript	.	.	ENSG00000182759	23145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.1)	.	MAFA_HUMAN	MAFA	HGNC	D4Q8H3_HUMAN	.	UPI00001B0366	SNV	MAFA,missense_variant,p.Ala9Asp,ENST00000333480,;MAFA,upstream_gene_variant,,ENST00000528185,;	26	37	33	SUCCESS
NRBP2	340371	.	GRCh37	8	144917879	144917879	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372417243	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	128	0	ENST00000442628.2:c.1459G>A	p.Ala487Thr	p.A487T	ENST00000442628	NM_178564.3	487	Gcc/Acc	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS34959.2	1459	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCGGCCA	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53	.	T:0.0001	ENSP00000414055	.	18/18	.	.	.	.	.	.	.	.	rs372417243	18/18	PASS	ENST00000442628	Transcript	.	.	ENSG00000185189	19339	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.52)	.	NRBP2_HUMAN	NRBP2	HGNC	E9PR11_HUMAN,D3DWK9_HUMAN	.	UPI00017A7042	SNV	NRBP2,missense_variant,p.Arg79His,ENST00000530123,;NRBP2,missense_variant,p.Ala487Thr,ENST00000442628,;NRBP2,missense_variant,p.Ala244Thr,ENST00000327830,;NRBP2,downstream_gene_variant,,ENST00000530347,;RP11-299M14.2,upstream_gene_variant,,ENST00000534006,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533846,;NRBP2,non_coding_transcript_exon_variant,,ENST00000527545,;NRBP2,non_coding_transcript_exon_variant,,ENST00000529747,;NRBP2,non_coding_transcript_exon_variant,,ENST00000531729,;NRBP2,non_coding_transcript_exon_variant,,ENST00000423469,;NRBP2,non_coding_transcript_exon_variant,,ENST00000532940,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;	1599	128	91	SUCCESS
LZTS1	11178	.	GRCh37	8	20110855	20110855	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	66	0	ENST00000265801.6:c.587T>A	p.Leu196Gln	p.L196Q	ENST00000265801	NM_021020.2	196	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS6015.1	587	RADIA|MUTECT|MUSE|VARSCANS	.	TGACCAGCGGG	NONE	.	.	hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354	.	.	ENSP00000370981	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000381569	Transcript	1	.	ENSG00000061337	13861	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	LZTS1_HUMAN	LZTS1	HGNC	.	.	UPI000006DEE8	SNV	LZTS1,missense_variant,p.Leu196Gln,ENST00000522290,;LZTS1,missense_variant,p.Leu196Gln,ENST00000381569,;LZTS1,missense_variant,p.Leu196Gln,ENST00000265801,;	945	66	47	SUCCESS
ELP3	55140	.	GRCh37	8	27957343	27957343	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	42	67	0	ENST00000256398.8:c.120-2A>T		p.X40_splice	ENST00000256398	NM_018091.5	40		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6065.1	.	RADIA|MUTECT|MUSE	.	CTTTCAGGGTG	NONE	.	.	.	.	.	ENSP00000256398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256398	Transcript	.	.	ENSG00000134014	20696	.	.	HIGH	2/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ELP3_HUMAN	ELP3	HGNC	E5RIZ7_HUMAN,E5RIC0_HUMAN,E5RHY2_HUMAN,E5RHR2_HUMAN,B4DKA4_HUMAN,B4DIG1_HUMAN	.	UPI000006F0B5	SNV	ELP3,splice_acceptor_variant,,ENST00000537665,;ELP3,splice_acceptor_variant,,ENST00000521015,;ELP3,splice_acceptor_variant,,ENST00000520270,;ELP3,splice_acceptor_variant,,ENST00000521570,;ELP3,splice_acceptor_variant,,ENST00000524103,;ELP3,splice_acceptor_variant,,ENST00000521099,;ELP3,splice_acceptor_variant,,ENST00000520288,;ELP3,splice_acceptor_variant,,ENST00000256398,;ELP3,intron_variant,,ENST00000380353,;ELP3,intron_variant,,ENST00000542181,;ELP3,splice_acceptor_variant,,ENST00000523760,;ELP3,upstream_gene_variant,,ENST00000522063,;ELP3,splice_acceptor_variant,,ENST00000519261,;ELP3,splice_acceptor_variant,,ENST00000521938,;ELP3,intron_variant,,ENST00000523687,;ELP3,intron_variant,,ENST00000518112,;	.	67	67	SUCCESS
CSMD1	64478	.	GRCh37	8	3046418	3046418	+	synonymous_variant	Silent	SNP	C	C	A	rs541557117	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	78	130	0	ENST00000537824.1:c.5514G>T	p.Ser1838=	p.S1838=	ENST00000537824	NM_033225.5	1838	tcG/tcT	0	.	T:0	.	T:0	.	A	S	protein_coding	YES	CCDS55189.1	5514	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTCCCGAGCC	NONE	by1000G	.	PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	T:0.001	.	ENSP00000441462	T:0	35/70	.	.	.	.	.	.	.	.	rs541557117	35/70	PASS	ENST00000537824	Transcript	.	T:0.0002	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	5514	130	124	SUCCESS
CHD7	55636	.	GRCh37	8	61765900	61765900	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs762311606	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	56	217	0	ENST00000423902.2:c.6616G>T	p.Glu2206Ter	p.E2206*	ENST00000423902	NM_017780.3	2206	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS47865.1	6616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGAATGT	NONE	.	.	.	.	.	ENSP00000392028	.	31/38	.	.	.	.	.	.	.	.	rs762311606	31/38	PASS	ENST00000423902	Transcript	1	.	ENSG00000171316	20626	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD7_HUMAN	CHD7	HGNC	H0YDC1_HUMAN,E9PP20_HUMAN	.	UPI0000251DA6	SNV	CHD7,stop_gained,p.Glu2206Ter,ENST00000423902,;CHD7,intron_variant,,ENST00000524602,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000531695,;	7095	218	197	SUCCESS
CPA6	57094	.	GRCh37	8	68430279	68430279	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	31	157	0	ENST00000297770.4:c.196G>A	p.Asp66Asn	p.D66N	ENST00000297770	NM_020361.4	66	Gac/Aac	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6200.1	196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTCCACCT	NONE	.	.	hmmpanther:PTHR11705:SF18,hmmpanther:PTHR11705,Pfam_domain:PF02244,Gene3D:3.30.70.340,Superfamily_domains:SSF54897	.	.	ENSP00000297770	.	3/11	.	.	.	.	.	.	.	.	COSM1552848	3/11	PASS	ENST00000297770	Transcript	1	.	ENSG00000165078	17245	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.968)	.	tolerated(0.06)	1	CBPA6_HUMAN	CPA6	HGNC	.	.	UPI000003984E	SNV	CPA6,missense_variant,p.Asp66Asn,ENST00000518549,;CPA6,missense_variant,p.Asp66Asn,ENST00000297770,;CPA6,5_prime_UTR_variant,,ENST00000297769,;CPA6,intron_variant,,ENST00000479862,;	412	157	160	SUCCESS
PRDM14	63978	.	GRCh37	8	70970978	70970978	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	55	104	0	ENST00000276594.2:c.1283G>T	p.Gly428Val	p.G428V	ENST00000276594	NM_024504.3	428	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS6206.1	1283	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCGCCCTTG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354	.	.	ENSP00000276594	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000276594	Transcript	.	.	ENSG00000147596	14001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	PRD14_HUMAN	PRDM14	HGNC	C9JMM8_HUMAN	.	UPI0000132186	SNV	PRDM14,missense_variant,p.Gly428Val,ENST00000276594,;	1485	104	112	SUCCESS
CCDC180	100499483	.	GRCh37	9	100105753	100105753	+	synonymous_variant	Silent	SNP	C	C	T	rs749862102	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	123	0	ENST00000375202.2:c.2538C>T	p.Thr846=	p.T846=	ENST00000375202		846	acC/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS35077.2	2538	RADIA|MUTECT	.	TCCACCTTCTC	NONE	.	.	hmmpanther:PTHR21444:SF14,hmmpanther:PTHR21444	.	.	ENSP00000364348	.	33/51	.	.	.	.	.	.	.	.	rs749862102	33/51	PASS	ENST00000375202	Transcript	.	.	ENSG00000197816	29303	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC180_HUMAN	CCDC180	HGNC	B7ZMG3_HUMAN	.	UPI00016277C6	SNV	CCDC180,synonymous_variant,p.%3D,ENST00000357054,;CCDC180,synonymous_variant,p.%3D,ENST00000375202,;CCDC180,synonymous_variant,p.%3D,ENST00000529487,;CCDC180,synonymous_variant,p.%3D,ENST00000411667,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;CCDC180,non_coding_transcript_exon_variant,,ENST00000528678,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;CCDC180,intron_variant,,ENST00000530011,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;	3890	123	86	SUCCESS
ANKS6	203286	.	GRCh37	9	101539738	101539738	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	41	122	0	ENST00000353234.4:c.1568-2A>T		p.X523_splice	ENST00000353234		523		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43856.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCTGAGAG	NONE	.	.	.	.	.	ENSP00000297837	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000353234	Transcript	.	.	ENSG00000165138	26724	.	.	HIGH	7/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKS6_HUMAN	ANKS6	HGNC	F5H7X9_HUMAN	.	UPI0000530317	SNV	ANKS6,splice_acceptor_variant,,ENST00000540940,;ANKS6,splice_acceptor_variant,,ENST00000375019,;ANKS6,splice_acceptor_variant,,ENST00000375018,;ANKS6,splice_acceptor_variant,,ENST00000353234,;ANKS6,upstream_gene_variant,,ENST00000444472,;	.	122	107	SUCCESS
ZNF462	58499	.	GRCh37	9	109687122	109687122	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760725722	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	33	163	0	ENST00000277225.5:c.929G>A	p.Arg310Gln	p.R310Q	ENST00000277225		310	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS35096.1	929	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCGGGAGA	NONE	.	.	.	.	.	ENSP00000277225	.	3/13	.	.	.	.	.	.	.	.	rs760725722	3/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.238)	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,missense_variant,p.Arg310Gln,ENST00000277225,;ZNF462,missense_variant,p.Arg310Gln,ENST00000457913,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000441147,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000480607,;	1218	163	148	SUCCESS
TSC1	7248	.	GRCh37	9	135804262	135804262	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	51	0	ENST00000298552.3:c.-3A>T		p.*1*	ENST00000298552	NM_001162426.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6956.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCTCTCGC	NONE	.	.	.	.	.	ENSP00000298552	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000298552	Transcript	.	.	ENSG00000165699	12362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSC1_HUMAN	TSC1	HGNC	.	.	UPI000013773E	SNV	TSC1,5_prime_UTR_variant,,ENST00000298552,;TSC1,5_prime_UTR_variant,,ENST00000545250,;TSC1,5_prime_UTR_variant,,ENST00000440111,;TSC1,5_prime_UTR_variant,,ENST00000403810,;TSC1,non_coding_transcript_exon_variant,,ENST00000475903,;TSC1,non_coding_transcript_exon_variant,,ENST00000490179,;TSC1,non_coding_transcript_exon_variant,,ENST00000493467,;	220	51	51	SUCCESS
COL5A1	1289	.	GRCh37	9	137658880	137658880	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	145	0	ENST00000371817.3:c.2168A>T	p.Gln723Leu	p.Q723L	ENST00000371817	NM_001278074.1	723	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS6982.1	2168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGCAGGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	.	ENSP00000360882	.	23/66	.	.	.	.	.	.	.	.	.	23/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Gln723Leu,ENST00000371817,;	2582	145	109	SUCCESS
NELFB	25920	.	GRCh37	9	140151494	140151494	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs752360926	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	19	46	0	ENST00000343053.4:c.585G>T	p.Arg195Ser	p.R195S	ENST00000343053	NM_015456.3	195	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS7040.1	585	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGCGCCA	NONE	.	.	hmmpanther:PTHR13503,Pfam_domain:PF06209	.	.	ENSP00000339495	.	4/13	.	.	.	.	.	.	.	.	rs752360926	4/13	PASS	ENST00000343053	Transcript	.	.	ENSG00000188986	24324	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	NELFB_HUMAN	NELFB	HGNC	.	.	UPI0000070699	SNV	NELFB,missense_variant,p.Arg195Ser,ENST00000343053,;C9orf173,downstream_gene_variant,,ENST00000412566,;C9orf173,downstream_gene_variant,,ENST00000388931,;	922	46	34	SUCCESS
UNC13B	10497	.	GRCh37	9	35399446	35399446	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs780641411	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	30	59	0	ENST00000378495.3:c.4008+1G>A		p.X1336_splice	ENST00000378495	NM_006377.3	1336		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6579.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGGTACTC	NONE	byFrequency	.	.	.	.	ENSP00000367756	.	.	.	.	.	.	.	.	.	.	rs780641411	.	PASS	ENST00000378495	Transcript	.	.	ENSG00000198722	12566	.	.	HIGH	34/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13B_HUMAN	UNC13B	HGNC	.	.	UPI0000211336	SNV	UNC13B,splice_donor_variant,,ENST00000378495,;UNC13B,splice_donor_variant,,ENST00000396787,;UNC13B,splice_donor_variant,,ENST00000378496,;UNC13B,downstream_gene_variant,,ENST00000481299,;	.	59	46	SUCCESS
TLE1	7088	.	GRCh37	9	84268953	84268953	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	36	83	0	ENST00000376499.3:c.235-2A>T		p.X79_splice	ENST00000376499	NM_005077.3	79		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6661.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTATAAA	NONE	.	.	.	.	.	ENSP00000365682	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376499	Transcript	.	.	ENSG00000196781	11837	.	.	HIGH	4/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE1_HUMAN	TLE1	HGNC	.	.	UPI0000137034	SNV	TLE1,splice_acceptor_variant,,ENST00000376472,;TLE1,splice_acceptor_variant,,ENST00000376499,;TLE1,splice_acceptor_variant,,ENST00000376463,;TLE1,splice_acceptor_variant,,ENST00000418319,;	.	83	65	SUCCESS
LRCH2	57631	.	GRCh37	X	114414316	114414316	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	222	199	0	ENST00000317135.8:c.622-2A>T		p.X208_splice	ENST00000317135	NM_020871.3	208		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48155.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCTAAGGA	NONE	.	.	.	.	.	ENSP00000325091	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000317135	Transcript	.	.	ENSG00000130224	29292	.	.	HIGH	3/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRCH2_HUMAN	LRCH2	HGNC	.	.	UPI000022DB30	SNV	LRCH2,splice_acceptor_variant,,ENST00000538422,;LRCH2,splice_acceptor_variant,,ENST00000317135,;	.	199	240	SUCCESS
TLR7	51284	.	GRCh37	X	12903873	12903873	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	185	170	0	ENST00000380659.3:c.246A>T	p.Pro82=	p.P82=	ENST00000380659	NM_016562.3	82	ccA/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14151.1	246	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAGCGTC	NONE	.	.	Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	.	.	ENSP00000370034	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380659	Transcript	.	.	ENSG00000196664	15631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR7_HUMAN	TLR7	HGNC	B2R9N9_HUMAN	.	UPI000004BAF6	SNV	TLR7,synonymous_variant,p.%3D,ENST00000380659,;	385	170	199	SUCCESS
ASMTL	8623	.	GRCh37	X	1571669	1571669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	52	0	ENST00000381317.3:c.65C>T	p.Pro22Leu	p.P22L	ENST00000381317	NM_004192.3	22	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS43917.1	65	RADIA|MUTECT|MUSE	.	GGCGTGGGGAG	NONE	.	.	HAMAP:MF_00528,hmmpanther:PTHR11746,hmmpanther:PTHR11746:SF69,Pfam_domain:PF02545,Gene3D:3.90.950.10,TIGRFAM_domain:TIGR00172,Superfamily_domains:SSF52972	.	.	ENSP00000370718	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000381317	Transcript	.	.	ENSG00000169093	751	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	ASML_HUMAN	ASMTL	HGNC	.	.	UPI0000141AF9	SNV	ASMTL,missense_variant,p.Pro22Leu,ENST00000381333,;ASMTL,missense_variant,p.Pro22Leu,ENST00000381317,;ASMTL,5_prime_UTR_variant,,ENST00000416733,;ASMTL,intron_variant,,ENST00000534940,;ASMTL,non_coding_transcript_exon_variant,,ENST00000474865,;	98	52	60	SUCCESS
DDX53	168400	.	GRCh37	X	23019572	23019572	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	9	165	0	ENST00000327968.5:c.1398C>T	p.Pro466=	p.P466=	ENST00000327968	NM_182699.3	466	ccC/ccT	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS35214.1	1398	MUTECT|MUSE	.	TCACCCAACGA	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF157,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000368667	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327968	Transcript	.	.	ENSG00000184735	20083	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX53_HUMAN	DDX53	HGNC	.	.	UPI0000199904	SNV	DDX53,synonymous_variant,p.%3D,ENST00000327968,;RP11-40F8.2,intron_variant,,ENST00000455399,;RP11-40F8.2,intron_variant,,ENST00000608254,;	1486	165	194	SUCCESS
ZBED1	9189	.	GRCh37	X	2408474	2408474	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	51	214	0	ENST00000381218.3:c.287A>T	p.Lys96Met	p.K96M	ENST00000381218		96	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS14118.1	287	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCTTGGAG	NONE	.	.	hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF2	.	.	ENSP00000370621	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381223	Transcript	.	.	ENSG00000214717	447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.786)	.	deleterious(0.01)	.	ZBED1_HUMAN	ZBED1	HGNC	C9JXP4_HUMAN	.	UPI0000073DE9	SNV	ZBED1,missense_variant,p.Lys96Met,ENST00000381223,;ZBED1,missense_variant,p.Lys96Met,ENST00000461691,;ZBED1,missense_variant,p.Lys96Met,ENST00000381222,;ZBED1,missense_variant,p.Lys96Met,ENST00000381218,;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000334651,;DHRSX,intron_variant,,ENST00000412516,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,upstream_gene_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	491	214	169	SUCCESS
LANCL3	347404	.	GRCh37	X	37431397	37431397	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs782002945	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	29	33	0	ENST00000378619.3:c.274T>A	p.Tyr92Asn	p.Y92N	ENST00000378619	NM_001170331.1	92	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS55398.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGCTACCTG	NONE	byFrequency	.	hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF7,Pfam_domain:PF05147,Superfamily_domains:0053930	.	.	ENSP00000367882	.	1/5	.	.	.	.	.	.	.	.	rs782002945	1/5	PASS	ENST00000378619	Transcript	.	.	ENSG00000147036	24767	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	LANC3_HUMAN	LANCL3	HGNC	.	.	UPI000059DAED	SNV	LANCL3,missense_variant,p.Tyr92Asn,ENST00000378621,;LANCL3,missense_variant,p.Tyr92Asn,ENST00000378619,;TM4SF2,intron_variant,,ENST00000465127,;	493	33	32	SUCCESS
TSPYL2	64061	.	GRCh37	X	53112112	53112112	+	synonymous_variant	Silent	SNP	G	G	A	rs376774006	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	9	132	0	ENST00000375442.4:c.432G>A	p.Gly144=	p.G144=	ENST00000375442	NM_022117.3	144	ggG/ggA	0	A:0	.	.	.	.	A	G	protein_coding	YES	CCDS14350.1	432	MUTECT|MUSE	.	GAGGGGGCCCT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF31	.	A:0.0001	ENSP00000364591	.	1/7	.	.	.	.	.	.	.	.	rs376774006	1/7	PASS	ENST00000375442	Transcript	.	.	ENSG00000184205	24358	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSYL2_HUMAN	TSPYL2	HGNC	.	.	UPI000004B6D6	SNV	TSPYL2,synonymous_variant,p.%3D,ENST00000375442,;TSPYL2,intron_variant,,ENST00000579390,;GPR173,downstream_gene_variant,,ENST00000332582,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000553557,;TSPYL2,upstream_gene_variant,,ENST00000463525,;TSPYL2,upstream_gene_variant,,ENST00000578306,;TSPYL2,upstream_gene_variant,,ENST00000556808,;	564	132	171	SUCCESS
ATRNL1	26033	.	GRCh37	10	117154258	117154258	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	28	87	0	ENST00000355044.3:c.3265C>T	p.Gln1089Ter	p.Q1089*	ENST00000355044	NM_207303.2	1089	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS7592.1	3265	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCCAATTG	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,SMART_domains:SM00180	.	.	ENSP00000347152	.	20/29	.	.	.	.	.	.	.	.	COSM1675588	20/29	PASS	ENST00000355044	Transcript	.	.	ENSG00000107518	29063	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ATRN1_HUMAN	ATRNL1	HGNC	.	.	UPI000021CCF8	SNV	ATRNL1,stop_gained,p.Gln173Ter,ENST00000526373,;ATRNL1,stop_gained,p.Gln140Ter,ENST00000423111,;ATRNL1,stop_gained,p.Gln1089Ter,ENST00000355044,;ATRNL1,5_prime_UTR_variant,,ENST00000303745,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	3391	87	80	SUCCESS
GDF2	2658	.	GRCh37	10	48416550	48416550	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	73	1	ENST00000249598.1:c.144G>A	p.Leu48=	p.L48=	ENST00000249598	NM_016204.1	48	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS7219.1	144	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCAGCCC	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127	.	.	ENSP00000249598	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,synonymous_variant,p.%3D,ENST00000249598,;	304	74	79	SUCCESS
CAMK2G	818	.	GRCh37	10	75634315	75634315	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	45	0	ENST00000322680.3:c.-96A>G		p.*32*	ENST00000322680	NM_172170.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7338.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGGGCTGAGCC	NONE	.	.	.	.	.	ENSP00000319060	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000322680	Transcript	.	.	ENSG00000148660	1463	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCC2G_HUMAN	CAMK2G	HGNC	Q13280_HUMAN	.	UPI000016781F	SNV	CAMK2G,5_prime_UTR_variant,,ENST00000322680,;CAMK2G,5_prime_UTR_variant,,ENST00000322635,;CAMK2G,5_prime_UTR_variant,,ENST00000394762,;CAMK2G,5_prime_UTR_variant,,ENST00000423381,;CAMK2G,5_prime_UTR_variant,,ENST00000444854,;CAMK2G,upstream_gene_variant,,ENST00000305762,;CAMK2G,upstream_gene_variant,,ENST00000372765,;CAMK2G,upstream_gene_variant,,ENST00000351293,;CAMK2G,upstream_gene_variant,,ENST00000472912,;	29	45	47	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103039593	103039593	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	11	85	0	ENST00000375735.2:c.4872G>T	p.Trp1624Cys	p.W1624C	ENST00000375735	NM_001080463.1	1624	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS44717.1	4872	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGGCTTG	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	.	.	ENSP00000381167	.	32/90	.	.	.	.	.	.	.	.	.	32/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Trp1624Cys,ENST00000398093,;DYNC2H1,missense_variant,p.Trp1624Cys,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	4872	85	107	SUCCESS
OR8B4	283162	.	GRCh37	11	124294728	124294728	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	62	0	ENST00000356130.3:c.40C>G	p.Leu14Val	p.L14V	ENST00000356130	NM_001005196.1	14	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS31710.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGGATAA	NONE	.	.	hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000348449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356130	Transcript	.	.	ENSG00000198657	8473	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.055)	.	deleterious_low_confidence(0)	.	OR8B4_HUMAN	OR8B4	HGNC	.	.	UPI00000015B0	SNV	OR8B4,missense_variant,p.Leu14Val,ENST00000356130,;	62	62	65	SUCCESS
USH1C	10083	.	GRCh37	11	17542918	17542918	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	76	0	ENST00000318024.4:c.1060G>A	p.Glu354Lys	p.E354K	ENST00000318024	NM_005709.3	354	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS7825.1	1060	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTCATTTT	NONE	.	.	hmmpanther:PTHR23116:SF32,hmmpanther:PTHR23116,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000005226	.	13/27	.	.	.	.	.	.	.	.	COSM1675871,COSM1675872	13/27	PASS	ENST00000005226	Transcript	.	.	ENSG00000006611	12597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.77)	.	deleterious_low_confidence(0)	1,1	USH1C_HUMAN	USH1C	HGNC	.	.	UPI00001D965A	SNV	USH1C,missense_variant,p.Glu354Lys,ENST00000005226,;USH1C,missense_variant,p.Glu323Lys,ENST00000527720,;USH1C,missense_variant,p.Glu354Lys,ENST00000318024,;USH1C,missense_variant,p.Glu335Lys,ENST00000527020,;USH1C,downstream_gene_variant,,ENST00000526181,;USH1C,upstream_gene_variant,,ENST00000530700,;USH1C,upstream_gene_variant,,ENST00000529563,;USH1C,missense_variant,p.Glu354Lys,ENST00000526313,;	1060	76	92	SUCCESS
PRMT3	10196	.	GRCh37	11	20473685	20473685	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	33	67	0	ENST00000331079.6:c.1003C>T	p.Leu335Phe	p.L335F	ENST00000331079	NM_005788.3	335	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7853.1	1003	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTCTTCTG	NONE	.	.	PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF45,hmmpanther:PTHR11006,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000331879	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000331079	Transcript	.	.	ENSG00000185238	30163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	ANM3_HUMAN	PRMT3	HGNC	.	.	UPI0000198DED	SNV	PRMT3,missense_variant,p.Leu273Phe,ENST00000437750,;PRMT3,missense_variant,p.Leu335Phe,ENST00000331079,;PRMT3,3_prime_UTR_variant,,ENST00000330796,;PRMT3,non_coding_transcript_exon_variant,,ENST00000529592,;	1220	67	84	SUCCESS
OR4S2	219431	.	GRCh37	11	55418847	55418847	+	synonymous_variant	Silent	SNP	C	C	A	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	73	141	0	ENST00000312422.2:c.468C>A	p.Ile156=	p.I156=	ENST00000312422	NM_001004059.2	156	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31505.1	468	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATCCAAGT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000310337	.	1/1	.	.	.	.	.	.	.	.	COSM3448942	1/1	PASS	ENST00000312422	Transcript	.	.	ENSG00000174982	15183	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	OR4S2_HUMAN	OR4S2	HGNC	.	.	UPI00001D77D2	SNV	OR4S2,synonymous_variant,p.%3D,ENST00000312422,;	468	141	164	SUCCESS
AHNAK	79026	.	GRCh37	11	62292058	62292058	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	39	63	0	ENST00000378024.4:c.9831A>G	p.Lys3277=	p.K3277=	ENST00000378024	NM_001620.2	3277	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS31584.1	9831	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTTTTAA	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,synonymous_variant,p.%3D,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	10106	63	85	SUCCESS
GAB2	9846	.	GRCh37	11	77937909	77937909	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1333354447	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	6	60	0	ENST00000361507.4:c.809G>A	p.Arg270His	p.R270H	ENST00000361507	NM_080491.2	270	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS8259.1	809	MUSE|VARSCANS	.	GGCTGCGGGGG	NONE	.	.	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF4	.	.	ENSP00000354952	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000361507	Transcript	.	.	ENSG00000033327	14458	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.1)	.	deleterious(0.01)	.	GAB2_HUMAN	GAB2	HGNC	E9PJE2_HUMAN,E9PJ26_HUMAN	.	UPI0000073037	SNV	GAB2,missense_variant,p.Arg270His,ENST00000361507,;GAB2,missense_variant,p.Arg232His,ENST00000340149,;GAB2,non_coding_transcript_exon_variant,,ENST00000528329,;GAB2,downstream_gene_variant,,ENST00000526030,;	895	60	81	SUCCESS
TDG	6996	.	GRCh37	12	104379458	104379458	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	15	88	0	ENST00000392872.3:c.1042G>T	p.Glu348Ter	p.E348*	ENST00000392872	NM_003211.4	348	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9095.1	1042	MUTECT|MUSE	.	ACGGAGAAAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12159:SF9,hmmpanther:PTHR12159	.	.	ENSP00000376611	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000392872	Transcript	.	.	ENSG00000139372	11700	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TDG_HUMAN	TDG	HGNC	F5H539_HUMAN,B4E127_HUMAN	.	UPI00000740E5	SNV	TDG,stop_gained,p.Glu144Ter,ENST00000542036,;TDG,stop_gained,p.Glu205Ter,ENST00000544861,;TDG,stop_gained,p.Glu344Ter,ENST00000266775,;TDG,stop_gained,p.Glu348Ter,ENST00000392872,;GLT8D2,downstream_gene_variant,,ENST00000548660,;GLT8D2,downstream_gene_variant,,ENST00000360814,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;GLT8D2,downstream_gene_variant,,ENST00000546436,;AC078819.1,downstream_gene_variant,,ENST00000401157,;TDG,upstream_gene_variant,,ENST00000536395,;TDG,3_prime_UTR_variant,,ENST00000540956,;TDG,non_coding_transcript_exon_variant,,ENST00000542926,;	1276	88	122	SUCCESS
OAS3	4940	.	GRCh37	12	113405240	113405240	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777228469	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	52	74	0	ENST00000228928.7:c.2707T>C	p.Ser903Pro	p.S903P	ENST00000228928	NM_006187.2	903	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS44981.1	2707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTCCAGG	NONE	byFrequency	.	hmmpanther:PTHR11258:SF4,hmmpanther:PTHR11258,Pfam_domain:PF10421,Gene3D:1px5A02,Superfamily_domains:SSF81301	.	.	ENSP00000228928	.	13/16	.	.	.	.	.	.	.	.	rs777228469	13/16	PASS	ENST00000228928	Transcript	.	.	ENSG00000111331	8088	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.19)	.	OAS3_HUMAN	OAS3	HGNC	.	.	UPI000034ECD3	SNV	OAS3,missense_variant,p.Ser75Pro,ENST00000546973,;OAS3,missense_variant,p.Ser903Pro,ENST00000228928,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,upstream_gene_variant,,ENST00000549918,;	2886	74	120	SUCCESS
TMEM132B	114795	.	GRCh37	12	126135432	126135432	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149523266	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	56	90	0	ENST00000299308.3:c.1832C>T	p.Pro611Leu	p.P611L	ENST00000299308	NM_052907.2	611	cCg/cTg	0	.	A:0	.	A:0	.	T	P/L	protein_coding	YES	CCDS41859.1	1832	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCGAAAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	A:0.002	.	ENSP00000299308	A:0	7/9	.	.	.	.	.	.	.	.	rs149523266	7/9	PASS	ENST00000299308	Transcript	.	A:0.0004	ENSG00000139364	29397	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.744)	A:0	deleterious(0)	.	T132B_HUMAN	TMEM132B	HGNC	.	.	UPI00006BFF58	SNV	TMEM132B,missense_variant,p.Pro123Leu,ENST00000535886,;TMEM132B,missense_variant,p.Pro611Leu,ENST00000299308,;	1840	90	122	SUCCESS
GYS2	2998	.	GRCh37	12	21713390	21713390	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1474338509	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	63	0	ENST00000261195.2:c.1099A>G	p.Ile367Val	p.I367V	ENST00000261195	NM_021957.3	367	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS8690.1	1099	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAATGAAAA	NONE	.	.	Pfam_domain:PF05693,hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176	.	.	ENSP00000261195	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000261195	Transcript	.	.	ENSG00000111713	4707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	tolerated(0.09)	.	GYS2_HUMAN	GYS2	HGNC	.	.	UPI000013D13D	SNV	GYS2,missense_variant,p.Ile367Val,ENST00000261195,;	1354	63	81	SUCCESS
KRT6A	3853	.	GRCh37	12	52886815	52886815	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	57	129	0	ENST00000330722.6:c.158G>A	p.Gly53Glu	p.G53E	ENST00000330722	NM_005554.3	53	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS41786.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTCCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000369317	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000330722	Transcript	.	.	ENSG00000205420	6443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.02)	.	K2C6A_HUMAN	KRT6A	HGNC	.	.	UPI000013CD4C	SNV	KRT6A,missense_variant,p.Gly53Glu,ENST00000330722,;KRT6A,upstream_gene_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;KRT6A,upstream_gene_variant,,ENST00000549898,;KRT6A,upstream_gene_variant,,ENST00000549754,;	227	129	136	SUCCESS
EML1	2009	.	GRCh37	14	100387202	100387202	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	74	0	ENST00000262233.6:c.1897C>A	p.Arg633=	p.R633=	ENST00000262233	NM_004434.2	633	Cga/Aga	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS32154.1	1954	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGCGATAC	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50998	.	.	ENSP00000334314	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000334192	Transcript	.	.	ENSG00000066629	3330	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMAL1_HUMAN	EML1	HGNC	G3V4U5_HUMAN,F8W717_HUMAN	.	UPI00004A074E	SNV	EML1,synonymous_variant,p.%3D,ENST00000262233,;EML1,synonymous_variant,p.%3D,ENST00000327921,;EML1,synonymous_variant,p.%3D,ENST00000334192,;EML1,3_prime_UTR_variant,,ENST00000557313,;	2088	75	103	SUCCESS
TDRD9	122402	.	GRCh37	14	104482355	104482355	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs763891026	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	26	0	ENST00000409874.4:c.2261C>G	p.Thr754Ser	p.T754S	ENST00000409874	NM_153046.2	754	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS9987.2	2261	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTACTTTTG	NONE	byFrequency	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80	.	.	ENSP00000387303	.	22/36	.	.	.	.	.	.	.	.	rs763891026	22/36	PASS	ENST00000409874	Transcript	.	.	ENSG00000156414	20122	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.04)	.	tolerated(0.1)	.	TDRD9_HUMAN	TDRD9	HGNC	.	.	UPI0001642306	SNV	TDRD9,missense_variant,p.Thr481Ser,ENST00000557332,;TDRD9,missense_variant,p.Thr754Ser,ENST00000339063,;TDRD9,missense_variant,p.Thr754Ser,ENST00000409874,;RN7SL634P,downstream_gene_variant,,ENST00000485467,;	2309	26	54	SUCCESS
AHNAK2	113146	.	GRCh37	14	105413863	105413863	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs371234619	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	14	101	0	ENST00000333244.5:c.7925C>T	p.Thr2642Ile	p.T2642I	ENST00000333244	NM_138420.2	2642	aCa/aTa	0	C:0.0005	C:0.0008	.	C:0	.	A	T/I	protein_coding	YES	CCDS45177.1	7925	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGTCACA	NONE	byCluster|by1000G	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	C:0	C:0	ENSP00000353114	C:0	7/7	.	.	.	.	.	.	.	.	rs371234619	7/7	PASS	ENST00000333244	Transcript	.	C:0.0002	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.39)	C:0	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Thr2642Ile,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	8045	101	131	SUCCESS
DDHD1	80821	.	GRCh37	14	53619420	53619420	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1411931105	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	84	0	ENST00000323669.5:c.397G>A	p.Gly133Ser	p.G133S	ENST00000323669	NM_001160148.1	133	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS53895.1	397	MUTECT|MUSE	.	GCCGCCGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF4	.	.	ENSP00000327104	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000323669	Transcript	.	.	ENSG00000100523	19714	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.009)	.	tolerated_low_confidence(0.4)	.	DDHD1_HUMAN	DDHD1	HGNC	G3V2P6_HUMAN	.	UPI00001D7B55	SNV	DDHD1,missense_variant,p.Gly133Ser,ENST00000395606,;DDHD1,missense_variant,p.Gly133Ser,ENST00000323669,;DDHD1,missense_variant,p.Gly133Ser,ENST00000357758,;DDHD1,upstream_gene_variant,,ENST00000556910,;AL356020.1,downstream_gene_variant,,ENST00000584587,;RP11-547D23.1,upstream_gene_variant,,ENST00000554235,;DDHD1,upstream_gene_variant,,ENST00000557445,;	397	84	66	SUCCESS
VSX2	338917	.	GRCh37	14	74727333	74727333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770384606	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	326	29	306	0	ENST00000261980.2:c.797C>T	p.Ser266Leu	p.S266L	ENST00000261980	NM_182894.2	266	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS9827.1	797	MUTECT|MUSE	.	CGAGTCGGGGA	NONE	byFrequency	.	hmmpanther:PTHR24329:SF251,hmmpanther:PTHR24329	.	.	ENSP00000261980	.	5/5	.	.	.	.	.	.	.	.	rs770384606	5/5	PASS	ENST00000261980	Transcript	.	.	ENSG00000119614	1975	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.11)	.	VSX2_HUMAN	VSX2	HGNC	.	.	UPI0000128755	SNV	VSX2,missense_variant,p.Ser266Leu,ENST00000261980,;	887	306	355	SUCCESS
EXD1	161829	.	GRCh37	15	41522807	41522807	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	30	53	0	ENST00000314992.5:c.-103C>T		p.*35*	ENST00000314992	NM_152596.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10072.1	.	MUTECT|MUSE	.	GAGGGGCTGCA	NONE	.	.	.	.	.	ENSP00000321029	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000314992	Transcript	.	.	ENSG00000178997	28507	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EXD1_HUMAN	EXD1	HGNC	.	.	UPI00001BBFD3	SNV	EXD1,5_prime_UTR_variant,,ENST00000458580,;EXD1,5_prime_UTR_variant,,ENST00000558396,;EXD1,5_prime_UTR_variant,,ENST00000314992,;CHP1,upstream_gene_variant,,ENST00000334660,;CHP1,upstream_gene_variant,,ENST00000560397,;CHP1,upstream_gene_variant,,ENST00000561280,;CHP1,upstream_gene_variant,,ENST00000558351,;EXD1,upstream_gene_variant,,ENST00000559743,;CHP1,upstream_gene_variant,,ENST00000392151,;CHP1,upstream_gene_variant,,ENST00000560784,;CHP1,upstream_gene_variant,,ENST00000560411,;	89	53	70	SUCCESS
HAUS2	55142	.	GRCh37	15	42858922	42858922	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs769517666	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	40	111	0	ENST00000260372.3:c.616G>T	p.Ala206Ser	p.A206S	ENST00000260372	NM_018097.2	206	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS10090.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTAGCTGAA	NONE	.	.	hmmpanther:PTHR16039,Pfam_domain:PF15003	.	.	ENSP00000260372	.	6/6	.	.	.	.	.	.	.	.	rs769517666	6/6	PASS	ENST00000260372	Transcript	.	.	ENSG00000137814	25530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.059)	.	tolerated_low_confidence(0.26)	.	HAUS2_HUMAN	HAUS2	HGNC	.	.	UPI000006E7A5	SNV	HAUS2,missense_variant,p.Ala175Ser,ENST00000568876,;HAUS2,missense_variant,p.Ala206Ser,ENST00000260372,;HAUS2,downstream_gene_variant,,ENST00000562398,;RP11-265N6.2,downstream_gene_variant,,ENST00000567089,;RP11-265N6.2,downstream_gene_variant,,ENST00000561902,;HAUS2,3_prime_UTR_variant,,ENST00000391623,;HAUS2,3_prime_UTR_variant,,ENST00000563479,;HAUS2,3_prime_UTR_variant,,ENST00000570178,;HAUS2,downstream_gene_variant,,ENST00000567640,;HAUS2,downstream_gene_variant,,ENST00000564279,;	679	111	132	SUCCESS
MESP2	145873	.	GRCh37	15	90320149	90320149	+	synonymous_variant	Silent	SNP	G	G	A	rs767474985	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	29	0	ENST00000341735.3:c.561G>A	p.Gly187=	p.G187=	ENST00000341735	NM_001039958.1	187	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS42078.1	561	RADIA|VARSCANS	.	CAGGGGCAGGG	SITE|p.G187G|c.561G>A|3	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR20937:SF6,hmmpanther:PTHR20937	.	.	ENSP00000342392	.	1/2	.	.	.	.	.	.	.	.	rs767474985,COSM3754568	1/2	common_in_exac	ENST00000341735	Transcript	1	.	ENSG00000188095	29659	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	MESP2_HUMAN	MESP2	HGNC	.	.	UPI00006E232B	SNV	MESP2,synonymous_variant,p.%3D,ENST00000341735,;MESP2,intron_variant,,ENST00000560219,;MESP2,intron_variant,,ENST00000558723,;	561	29	40	SUCCESS
PDZD9	255762	.	GRCh37	16	21995781	21995781	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	22	116	0	ENST00000424898.2:c.602A>G	p.Asp201Gly	p.D201G	ENST00000424898		201	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS10602.2	422	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGTCTTTT	NONE	.	.	hmmpanther:PTHR22698	.	.	ENSP00000441685	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000537222	Transcript	.	.	ENSG00000155714	28740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.176)	.	tolerated(0.09)	.	.	PDZD9	HGNC	F5GWW8_HUMAN	.	UPI0000E24140	SNV	PDZD9,missense_variant,p.Asp139Gly,ENST00000286143,;PDZD9,missense_variant,p.Asp141Gly,ENST00000537222,;PDZD9,missense_variant,p.Asp201Gly,ENST00000424898,;UQCRC2,downstream_gene_variant,,ENST00000561553,;UQCRC2,downstream_gene_variant,,ENST00000268379,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000561798,;UQCRC2,downstream_gene_variant,,ENST00000563898,;	473	116	122	SUCCESS
C16orf71	0	.	GRCh37	16	4787921	4787921	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs765201393	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	96	0	ENST00000299320.5:c.250G>C	p.Ala84Pro	p.A84P	ENST00000299320	NM_139170.2	84	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS10521.1	250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCGCTGCA	NONE	byFrequency	.	.	.	.	ENSP00000299320	.	3/10	.	.	.	.	.	.	.	.	rs765201393	3/10	PASS	ENST00000299320	Transcript	.	.	ENSG00000166246	25081	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.833)	.	tolerated(0.33)	.	CP071_HUMAN	C16orf71	HGNC	K7ENX3_HUMAN	.	UPI000013E57E	SNV	C16orf71,missense_variant,p.Ala84Pro,ENST00000590191,;C16orf71,missense_variant,p.Ala84Pro,ENST00000586724,;C16orf71,missense_variant,p.Ala84Pro,ENST00000299320,;ANKS3,upstream_gene_variant,,ENST00000304283,;ANKS3,upstream_gene_variant,,ENST00000586605,;ANKS3,upstream_gene_variant,,ENST00000592421,;ANKS3,upstream_gene_variant,,ENST00000592711,;ANKS3,upstream_gene_variant,,ENST00000450067,;ANKS3,upstream_gene_variant,,ENST00000586166,;ANKS3,upstream_gene_variant,,ENST00000585773,;ANKS3,upstream_gene_variant,,ENST00000592190,;ANKS3,upstream_gene_variant,,ENST00000592698,;ANKS3,upstream_gene_variant,,ENST00000590147,;ANKS3,upstream_gene_variant,,ENST00000589065,;RP11-127I20.7,non_coding_transcript_exon_variant,,ENST00000588099,;C16orf71,non_coding_transcript_exon_variant,,ENST00000586256,;ANKS3,upstream_gene_variant,,ENST00000587005,;ANKS3,upstream_gene_variant,,ENST00000590689,;ANKS3,upstream_gene_variant,,ENST00000592068,;ANKS3,upstream_gene_variant,,ENST00000592077,;ANKS3,upstream_gene_variant,,ENST00000590193,;ANKS3,upstream_gene_variant,,ENST00000590730,;ANKS3,upstream_gene_variant,,ENST00000593120,;ANKS3,upstream_gene_variant,,ENST00000586159,;ANKS3,upstream_gene_variant,,ENST00000591281,;	728	96	81	SUCCESS
PPL	5493	.	GRCh37	16	4933888	4933888	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs754374500	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	24	0	ENST00000345988.2:c.4768G>T	p.Ala1590Ser	p.A1590S	ENST00000345988	NM_002705.4	1590	Gcg/Tcg	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS10526.1	4768	SOMATICSNIPER|VARSCANS	.	CGTCGCTGCCA	NONE	byFrequency	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169	.	.	ENSP00000340510	.	22/22	.	.	.	.	.	.	.	.	rs754374500	22/22	PASS	ENST00000345988	Transcript	.	.	ENSG00000118898	9273	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.005)	.	tolerated(0.42)	.	PEPL_HUMAN	PPL	HGNC	.	.	UPI00001AE832	SNV	PPL,missense_variant,p.Ala1011Ser,ENST00000592772,;PPL,missense_variant,p.Ala1588Ser,ENST00000590782,;PPL,missense_variant,p.Ala1590Ser,ENST00000345988,;UBN1,downstream_gene_variant,,ENST00000262376,;UBN1,downstream_gene_variant,,ENST00000590769,;UBN1,downstream_gene_variant,,ENST00000545171,;UBN1,downstream_gene_variant,,ENST00000396658,;UBN1,downstream_gene_variant,,ENST00000589191,;PPL,downstream_gene_variant,,ENST00000589090,;	4858	24	22	SUCCESS
CES1	1066	.	GRCh37	16	55866943	55866943	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	184	131	269	0	ENST00000361503.4:c.25G>A	p.Ala9Thr	p.A9T	ENST00000361503		9	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS32450.1	25	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGCCAGGA	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11559:SF179,hmmpanther:PTHR11559,Pfam_domain:PF00135	.	.	ENSP00000353720	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000360526	Transcript	.	.	ENSG00000198848	1863	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.5)	.	EST1_HUMAN	CES1	HGNC	B7Z795_HUMAN	.	UPI000054B390	SNV	CES1,missense_variant,p.Ala9Thr,ENST00000360526,;CES1,missense_variant,p.Ala9Thr,ENST00000422046,;CES1,missense_variant,p.Ala9Thr,ENST00000361503,;CES1,upstream_gene_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000565403,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;	128	269	316	SUCCESS
LCAT	3931	.	GRCh37	16	67976468	67976468	+	frameshift_variant	Frame_Shift_Ins	INS	G	G	CCC	rs770863885	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	44	139	0	ENST00000264005.5:c.546delinsGGG	p.Lys183GlyfsTer82	p.K183Gfs*82	ENST00000264005	NM_000229.1	182	cgC/cgGGG	0	.	.	.	.	.	CCC	R/RX	protein_coding	YES	CCDS10854.1	546	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GAGCTTGCGGTA	NONE	.	.	hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Gene3D:3.40.50.1820,Pfam_domain:PF02450,Superfamily_domains:SSF53474	.	.	ENSP00000264005	.	5/6	.	.	.	.	.	.	.	.	rs770863885	5/6	PASS	ENST00000264005	Transcript	.	.	ENSG00000213398	6522	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCAT_HUMAN	LCAT	HGNC	J3QSE5_HUMAN	.	UPI0000000DE7	substitution	LCAT,frameshift_variant,p.Lys183GlyfsTer82,ENST00000264005,;LCAT,frameshift_variant,p.Lys6GlyfsTer?,ENST00000576450,;LCAT,frameshift_variant,p.Lys111GlyfsTer82,ENST00000570980,;LCAT,intron_variant,,ENST00000570369,;SLC12A4,downstream_gene_variant,,ENST00000537830,;SLC12A4,downstream_gene_variant,,ENST00000541864,;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000316341,;SLC12A4,downstream_gene_variant,,ENST00000338335,;SLC12A4,downstream_gene_variant,,ENST00000422611,;LCAT,upstream_gene_variant,,ENST00000570396,;CTC-479C5.17,downstream_gene_variant,,ENST00000590594,;LCAT,frameshift_variant,p.Lys64GlyfsTer101,ENST00000573538,;LCAT,3_prime_UTR_variant,,ENST00000575467,;LCAT,non_coding_transcript_exon_variant,,ENST00000575277,;LCAT,non_coding_transcript_exon_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000573023,;SLC12A4,downstream_gene_variant,,ENST00000575857,;SLC12A4,downstream_gene_variant,,ENST00000570616,;SLC12A4,downstream_gene_variant,,ENST00000570802,;	576	139	137	SUCCESS
KRT38	8687	.	GRCh37	17	39594488	39594488	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	46	0	ENST00000246646.3:c.1098C>T	p.Ile366=	p.I366=	ENST00000246646	NM_006771.3	366	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11392.1	1098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGATGAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	.	.	ENSP00000246646	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000246646	Transcript	.	.	ENSG00000171360	6456	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT38_HUMAN	KRT38	HGNC	.	.	UPI000013CBF9	SNV	KRT38,synonymous_variant,p.%3D,ENST00000246646,;	1098	46	78	SUCCESS
MSI2	124540	.	GRCh37	17	55693402	55693402	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	32	0	ENST00000284073.2:c.609G>A	p.Leu203=	p.L203=	ENST00000284073	NM_138962.2	203	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11596.1	609	MUTECT|MUSE	.	GGACTGCCTTA	NONE	.	.	Superfamily_domains:SSF54928,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF324	.	.	ENSP00000284073	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000284073	Transcript	.	.	ENSG00000153944	18585	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSI2H_HUMAN	MSI2	HGNC	.	.	UPI0000070D73	SNV	MSI2,synonymous_variant,p.%3D,ENST00000284073,;MSI2,synonymous_variant,p.%3D,ENST00000416426,;MSI2,synonymous_variant,p.%3D,ENST00000579180,;MSI2,synonymous_variant,p.%3D,ENST00000322684,;MSI2,synonymous_variant,p.%3D,ENST00000442934,;RN7SL449P,upstream_gene_variant,,ENST00000464937,;MSI2,non_coding_transcript_exon_variant,,ENST00000579205,;MSI2,non_coding_transcript_exon_variant,,ENST00000579505,;MSI2,non_coding_transcript_exon_variant,,ENST00000577241,;	818	32	50	SUCCESS
SMG8	55181	.	GRCh37	17	57289158	57289158	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	28	0	ENST00000300917.5:c.1746A>G	p.Ser582=	p.S582=	ENST00000300917	NM_018149.6	582	tcA/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS11615.1	1746	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACTCATTACC	NONE	.	.	hmmpanther:PTHR13091,hmmpanther:PTHR13091:SF0,Pfam_domain:PF10220	.	.	ENSP00000438748	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000543872	Transcript	.	.	ENSG00000167447	25551	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMG8_HUMAN	SMG8	HGNC	.	.	UPI000006CCB5	SNV	SMG8,synonymous_variant,p.%3D,ENST00000543872,;SMG8,synonymous_variant,p.%3D,ENST00000582469,;SMG8,synonymous_variant,p.%3D,ENST00000578922,;SMG8,synonymous_variant,p.%3D,ENST00000300917,;CTD-2510F5.6,intron_variant,,ENST00000577660,;SMG8,intron_variant,,ENST00000580498,;SMG8,synonymous_variant,p.%3D,ENST00000580798,;	2010	28	35	SUCCESS
CD300E	342510	.	GRCh37	17	72613261	72613261	+	synonymous_variant	Silent	SNP	G	G	A	rs758148094	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	65	0	ENST00000392619.1:c.465C>T	p.Ser155=	p.S155=	ENST00000392619	NM_181449.2	155	tcC/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS11702.1	384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGGAAAC	NONE	.	.	hmmpanther:PTHR11860:SF34,hmmpanther:PTHR11860,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000329942	.	2/4	.	.	.	.	.	.	.	.	rs758148094	2/4	PASS	ENST00000328630	Transcript	.	.	ENSG00000186407	28874	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM2_HUMAN	CD300E	HGNC	.	.	UPI0000246EA0	SNV	CD300E,synonymous_variant,p.%3D,ENST00000328630,;CD300E,synonymous_variant,p.%3D,ENST00000426295,;CD300E,synonymous_variant,p.%3D,ENST00000392619,;CD300E,downstream_gene_variant,,ENST00000412268,;	425	65	83	SUCCESS
ITGB4	3691	.	GRCh37	17	73738810	73738810	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs762167755	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	25	0	ENST00000200181.3:c.2930G>T	p.Arg977Leu	p.R977L	ENST00000200181	NM_000213.3	977	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS11727.1	2930	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCGCCGCCTGG	NONE	byFrequency	.	hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513	.	.	ENSP00000200181	.	25/40	.	.	.	.	.	.	.	.	rs762167755	25/40	PASS	ENST00000200181	Transcript	.	.	ENSG00000132470	6158	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ITB4_HUMAN	ITGB4	HGNC	.	.	UPI00001AE5C0	SNV	ITGB4,missense_variant,p.Arg977Leu,ENST00000579662,;ITGB4,missense_variant,p.Arg977Leu,ENST00000450894,;ITGB4,missense_variant,p.Arg977Leu,ENST00000339591,;ITGB4,missense_variant,p.Arg977Leu,ENST00000449880,;ITGB4,missense_variant,p.Arg977Leu,ENST00000200181,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,downstream_gene_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;	3117	25	42	SUCCESS
TP53	7157	.	GRCh37	17	7574033	7574033	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	85	0	ENST00000269305.4:c.994A>T	p.Ile332Phe	p.I332F	ENST00000269305	NM_001126112.2	332	Atc/Ttc	0	.	.	.	.	.	A	I/F	protein_coding	YES	CCDS11118.1	994	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGATCTGCA	CODON|p.0?|c.1_1182del1182|6,BUFFER|p.E336fs*10|c.1005_1006delTG|3,BUFFER|p.E336fs*10|c.1005_1006delTG|3,BUFFER|p.G334V|c.1001G>T|5,BUFFER|p.G334V|c.1001G>T|8,BUFFER|p.G334W|c.1000G>T|3,BUFFER|p.?|c.994-1G>T|3,BUFFER|p.?|c.994-2A>G|3,BUFFER|p.?|c.994-2A>T|4,BUFFER|p.?|c.994-2A>T|7,BUFFER|p.?|c.994-2A>G|5	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF07710,Gene3D:1olgA00,Superfamily_domains:SSF47719,Prints_domain:PR00386	.	.	ENSP00000269305	.	10/11	.	.	.	.	.	.	.	.	TP53_g.16885A>G,TP53_g.16885del,COSM45528,COSM44059	10/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,1,1	.	.	possibly_damaging(0.865)	.	deleterious(0)	0,0,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Ile332Phe,ENST00000269305,;TP53,missense_variant,p.Ile332Phe,ENST00000445888,;TP53,splice_region_variant,,ENST00000420246,;TP53,splice_region_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000359597,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000504937,;TP53,splice_region_variant,,ENST00000504290,;TP53,splice_region_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1184	85	71	SUCCESS
TP53	7157	.	GRCh37	17	7577538	7577538	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs11540652	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	62	0	ENST00000269305.4:c.743G>A	p.Arg248Gln	p.R248Q	ENST00000269305	NM_001126112.2	248	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS11118.1	743	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	GCCTCCGGTTC	SITE|p.R248Q|c.743G>A|113,SITE|p.R248Q|c.743G>A|633,SITE|p.R248Q|c.743G>A|64,SITE|p.R248Q|c.743G>A|42,SITE|p.R155Q|c.464G>A|114,SITE|p.R248Q|c.743G>A|110,CODON|p.0?|c.1_1182del1182|6,CODON|p.R248Q|c.743_744GG>AA|5,CODON|p.R248R|c.744G>A|5,CODON|p.R248W|c.741_742CC>TT|15,CODON|p.R248L|c.743G>T|7,CODON|p.R248L|c.743G>T|12,CODON|p.R155L|c.464G>T|12,CODON|p.R155P|c.464G>C|5,CODON|p.R248P|c.743G>C|17,CODON|p.R248L|c.743G>T|12,CODON|p.R248P|c.743G>C|5,CODON|p.R248L|c.743G>T|74,CODON|p.R248P|c.743G>C|5,BUFFER|p.L252_I254delLTI|c.754_762delCTCACCATC|4,BUFFER|p.L252_I254delLTI|c.751_759delATCCTCACC|4,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252delL|c.754_756delCTC|9,BUFFER|p.L252delL|c.754_756delCTC|4,BUFFER|p.L252fs*93|c.754delC|5,BUFFER|p.L252F|c.754C>T|10,BUFFER|p.I251I|c.753C>A|3,BUFFER|p.I251N|c.752T>A|9,BUFFER|p.I251T|c.752T>C|6,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251S|c.752T>G|12,BUFFER|p.I251T|c.752T>C|3,BUFFER|p.I251fs*94|c.751delA|6,BUFFER|p.I251L|c.751A>C|3,BUFFER|p.I251F|c.751A>T|8,BUFFER|p.P250P|c.750C>T|4,BUFFER|p.P250F|c.748_749CC>TT|3,BUFFER|p.I251fs*94|c.748delC|4,BUFFER|p.P250L|c.749C>T|49,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250L|c.749C>T|8,BUFFER|p.P250L|c.749C>T|6,BUFFER|p.P250L|c.749C>T|11,BUFFER|p.P250S|c.748C>T|12,BUFFER|p.R249fs*96|c.746delG|4,BUFFER|p.R249S|c.747G>T|31,BUFFER|p.R249S|c.747G>C|22,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|15,BUFFER|p.R249R|c.747G>A|6,BUFFER|p.R249S|c.747G>C|3,BUFFER|p.R249S|c.747G>T|314,BUFFER|p.R249S|c.747G>T|30,BUFFER|p.R249T|c.746G>C|3,BUFFER|p.R249M|c.746G>T|8,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249M|c.746G>T|9,BUFFER|p.R249K|c.746G>A|17,BUFFER|p.R249M|c.746G>T|4,BUFFER|p.R249T|c.746G>C|20,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249M|c.746G>T|35,BUFFER|p.R249T|c.746G>C|4,BUFFER|p.R249W|c.745A>T|36,BUFFER|p.R249W|c.745A>T|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249G|c.745A>G|7,BUFFER|p.R249W|c.745A>T|4,BUFFER|p.R249G|c.745A>G|4,BUFFER|p.R249W|c.745A>T|8,BUFFER|p.R249G|c.745A>G|30,BUFFER|p.R248W|c.742C>T|46,BUFFER|p.R248W|c.742C>T|92,BUFFER|p.R248W|c.742C>T|537,BUFFER|p.R155W|c.463C>T|92,BUFFER|p.R248G|c.742C>G|14,BUFFER|p.R248W|c.742C>T|31,BUFFER|p.R248W|c.742C>T|87,BUFFER|p.N247N|c.741C>T|10,BUFFER|p.N247I|c.740A>T|7,BUFFER|p.N154I|c.461A>T|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247T|c.740A>C|5,BUFFER|p.N247I|c.740A>T|5,BUFFER|p.N247S|c.740A>G|7,BUFFER|p.N247D|c.739A>G|5,BUFFER|p.N247Y|c.739A>T|3,BUFFER|p.M153I|c.459G>C|3,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>A|21,BUFFER|p.M246I|c.738G>C|3,BUFFER|p.M246I|c.738G>C|4,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246R|c.737T>G|12,BUFFER|p.M246R|c.737T>G|3,BUFFER|p.M246T|c.737T>C|8,BUFFER|p.M153R|c.458T>G|3,BUFFER|p.M246K|c.737T>A|7,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246L|c.736A>T|3,BUFFER|p.M153V|c.457A>G|7,BUFFER|p.M246V|c.736A>G|3,BUFFER|p.M246V|c.736A>G|35,BUFFER|p.M246V|c.736A>G|7,BUFFER|p.M246V|c.736A>G|4,BUFFER|p.G245G|c.735C>T|5,BUFFER|p.G245D|c.734G>A|10,BUFFER|p.G245V|c.734G>T|3,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245A|c.734G>C|8,BUFFER|p.G152D|c.455G>A|23,BUFFER|p.G152V|c.455G>T|15,BUFFER|p.G245V|c.734G>T|10,BUFFER|p.G245D|c.734G>A|23,BUFFER|p.G245D|c.734G>A|119,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245D|c.734G>A|7,BUFFER|p.G245V|c.734G>T|69,BUFFER|p.G245V|c.734G>T|15,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245R|c.733G>C|14,BUFFER|p.G245S|c.733G>A|22,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152S|c.454G>A|56,BUFFER|p.G245C|c.733G>T|4,BUFFER|p.G245S|c.733G>A|56,BUFFER|p.G245S|c.733G>A|340,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245C|c.733G>T|50,BUFFER|p.G245S|c.733G>A|39,BUFFER|p.G245C|c.733G>T|6,BUFFER|p.G245R|c.733G>C|3,BUFFER|p.G152C|c.454G>T|6,BUFFER|p.G152R|c.454G>C|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G244G|c.732C>T|3,BUFFER|p.G151G|c.453C>T|3,BUFFER|p.G244G|c.732C>T|8,BUFFER|p.G244G|c.732C>A|6	byFrequency|byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	7/11	.	.	.	.	.	.	.	.	rs11540652,CM920675,TP53_g.13380G>A,TP53_g.13380G>C,TP53_g.13380G>T,TP53_g.13380del,COSM10662,COSM11491,COSM6549,COSM46135,COSM340105,COSM99602,COSM241995,COSM99020,COSM241994,COSM340106,COSM3356964,COSM3378346,COSM1640830,COSM1646857,COSM1646858,COSM99021,COSM241996,COSM340107	7/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	25032700,20377871,18798306,15450681,25105660,21264207	probably_damaging(1)	.	deleterious(0)	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg248Gln,ENST00000413465,;TP53,missense_variant,p.Arg248Gln,ENST00000420246,;TP53,missense_variant,p.Arg248Gln,ENST00000269305,;TP53,missense_variant,p.Arg116Gln,ENST00000509690,;TP53,missense_variant,p.Arg248Gln,ENST00000359597,;TP53,missense_variant,p.Arg155Gln,ENST00000514944,;TP53,missense_variant,p.Arg248Gln,ENST00000445888,;TP53,missense_variant,p.Arg248Gln,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	933	62	45	SUCCESS
CHD3	1107	.	GRCh37	17	7810273	7810273	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	52	0	ENST00000330494.7:c.4590A>G	p.Arg1530=	p.R1530=	ENST00000330494	NM_001005273.2	1530	agA/agG	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS32553.2	4767	MUTECT|MUSE	.	TCCAGAGCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF544	.	.	ENSP00000369716	.	30/40	.	.	.	.	.	.	.	.	COSM3680609	30/40	PASS	ENST00000380358	Transcript	.	.	ENSG00000170004	1918	.	.	LOW	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	CHD3_HUMAN	CHD3	HGNC	Q2TAZ1_HUMAN	.	UPI00004DDA7C	SNV	CHD3,synonymous_variant,p.%3D,ENST00000380358,;CHD3,synonymous_variant,p.%3D,ENST00000358181,;CHD3,synonymous_variant,p.%3D,ENST00000330494,;CHD3,upstream_gene_variant,,ENST00000439235,;CHD3,upstream_gene_variant,,ENST00000449744,;CHD3,upstream_gene_variant,,ENST00000573936,;SCARNA21,downstream_gene_variant,,ENST00000517026,;CHD3,3_prime_UTR_variant,,ENST00000470531,;CHD3,downstream_gene_variant,,ENST00000466233,;CHD3,downstream_gene_variant,,ENST00000473376,;CHD3,upstream_gene_variant,,ENST00000572750,;CHD3,upstream_gene_variant,,ENST00000481999,;	4768	52	56	SUCCESS
BAIAP2	10458	.	GRCh37	17	79008986	79008986	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs575925666	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	28	58	0	ENST00000321300.6:c.-69C>T		p.*23*	ENST00000321300	NM_001144888.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS11775.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGTTAC	NONE	byFrequency|by1000G	.	.	T:0.003	.	ENSP00000316338	T:0	1/15	.	.	.	.	.	.	.	.	rs575925666	1/15	PASS	ENST00000321300	Transcript	.	T:0.0006	ENSG00000175866	947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	BAIP2_HUMAN	BAIAP2	HGNC	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN	.	UPI000000D762	SNV	BAIAP2,5_prime_UTR_variant,,ENST00000428708,;BAIAP2,5_prime_UTR_variant,,ENST00000435091,;BAIAP2,5_prime_UTR_variant,,ENST00000321300,;BAIAP2,5_prime_UTR_variant,,ENST00000575245,;BAIAP2,5_prime_UTR_variant,,ENST00000575712,;BAIAP2,5_prime_UTR_variant,,ENST00000575989,;BAIAP2,5_prime_UTR_variant,,ENST00000392411,;BAIAP2,5_prime_UTR_variant,,ENST00000321280,;BAIAP2,upstream_gene_variant,,ENST00000571530,;BAIAP2-AS1,upstream_gene_variant,,ENST00000573167,;BAIAP2-AS1,upstream_gene_variant,,ENST00000542745,;BAIAP2-AS1,upstream_gene_variant,,ENST00000577066,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000573894,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000570913,;BAIAP2,5_prime_UTR_variant,,ENST00000575750,;BAIAP2,5_prime_UTR_variant,,ENST00000572329,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000576470,;	25	58	63	SUCCESS
ACAA2	10449	.	GRCh37	18	47329197	47329197	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	50	89	0	ENST00000285093.10:c.43A>G	p.Thr15Ala	p.T15A	ENST00000285093	NM_006111.2	15	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11939.1	43	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGTTCGCT	NONE	.	.	hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF67,Gene3D:3.40.47.10,Pfam_domain:PF00108,TIGRFAM_domain:TIGR01930,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901	.	.	ENSP00000285093	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000285093	Transcript	.	.	ENSG00000167315	83	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	THIM_HUMAN	ACAA2	HGNC	K7ER88_HUMAN,K7EME0_HUMAN,K7EJB1_HUMAN,K7EJ68_HUMAN	.	UPI000006FECE	SNV	ACAA2,missense_variant,p.Thr15Ala,ENST00000285093,;ACAA2,missense_variant,p.Thr12Ala,ENST00000587994,;ACAA2,5_prime_UTR_variant,,ENST00000586100,;ACAA2,5_prime_UTR_variant,,ENST00000586485,;ACAA2,5_prime_UTR_variant,,ENST00000589432,;ACAA2,5_prime_UTR_variant,,ENST00000585948,;RP11-886H22.1,3_prime_UTR_variant,,ENST00000590532,;	519	89	166	SUCCESS
VPS4B	9525	.	GRCh37	18	61067937	61067937	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	30	82	0	ENST00000238497.5:c.485-1G>T		p.X162_splice	ENST00000238497	NM_004869.3	162		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11983.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCCTAAAA	NONE	.	.	.	.	.	ENSP00000238497	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000238497	Transcript	.	.	ENSG00000119541	10895	.	.	HIGH	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS4B_HUMAN	VPS4B	HGNC	.	.	UPI0000073CAF	SNV	VPS4B,splice_acceptor_variant,,ENST00000238497,;VPS4B,splice_acceptor_variant,,ENST00000591383,;VPS4B,upstream_gene_variant,,ENST00000588323,;VPS4B,splice_acceptor_variant,,ENST00000589604,;VPS4B,splice_acceptor_variant,,ENST00000591475,;VPS4B,splice_acceptor_variant,,ENST00000588059,;	.	82	100	SUCCESS
CILP2	148113	.	GRCh37	19	19654688	19654688	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	9	106	0	ENST00000291495.5:c.1334G>T	p.Arg445Ile	p.R445I	ENST00000291495	NM_153221.2	445	aGa/aTa	0	.	.	.	.	.	T	R/I	protein_coding	YES	CCDS12405.1	1334	MUTECT|MUSE|VARSCANS	.	GGAGAGAAGGG	NONE	.	.	hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.005)	.	tolerated(0.17)	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,missense_variant,p.Arg445Ile,ENST00000291495,;CILP2,missense_variant,p.Arg451Ile,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	1419	106	112	SUCCESS
ZNF43	7594	.	GRCh37	19	21992333	21992333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	46	98	0	ENST00000354959.4:c.506C>A	p.Thr169Asn	p.T169N	ENST00000354959	NM_003423.3	169	aCt/aAt	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS12413.2	506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGTATGG	BUFFER|p.L173fs*21|c.516_517insA|3	.	.	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000347045	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354959	Transcript	.	.	ENSG00000198521	13109	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	tolerated(0.06)	.	ZNF43_HUMAN	ZNF43	HGNC	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN	.	UPI00001BD957	SNV	ZNF43,missense_variant,p.Thr163Asn,ENST00000595461,;ZNF43,missense_variant,p.Thr104Asn,ENST00000599906,;ZNF43,missense_variant,p.Thr169Asn,ENST00000354959,;ZNF43,missense_variant,p.Thr163Asn,ENST00000594012,;ZNF43,missense_variant,p.Thr163Asn,ENST00000598381,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;	676	98	116	SUCCESS
TBCB	1155	.	GRCh37	19	36606393	36606393	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs115382811	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	11	44	0	ENST00000221855.3:c.-70G>A		p.*24*	ENST00000221855	NM_001281.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12488.1	.	MUTECT|MUSE|VARSCANS	.	GCAGCGGCGGC	NONE	byCluster|by1000G	.	.	.	.	ENSP00000221855	.	1/6	.	.	.	.	.	.	.	.	rs115382811	1/6	PASS	ENST00000221855	Transcript	.	.	ENSG00000105254	1989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBCB_HUMAN	TBCB	HGNC	Q6FGY5_HUMAN,K7EP07_HUMAN	.	UPI0000136A4B	SNV	TBCB,5_prime_UTR_variant,,ENST00000221855,;TBCB,upstream_gene_variant,,ENST00000589996,;OVOL3,downstream_gene_variant,,ENST00000586670,;OVOL3,downstream_gene_variant,,ENST00000585332,;TBCB,upstream_gene_variant,,ENST00000591296,;POLR2I,upstream_gene_variant,,ENST00000221859,;TBCB,upstream_gene_variant,,ENST00000586868,;TBCB,upstream_gene_variant,,ENST00000585746,;OVOL3,downstream_gene_variant,,ENST00000262637,;TBCB,upstream_gene_variant,,ENST00000588385,;TBCB,non_coding_transcript_exon_variant,,ENST00000593075,;TBCB,non_coding_transcript_exon_variant,,ENST00000392178,;TBCB,upstream_gene_variant,,ENST00000589308,;TBCB,non_coding_transcript_exon_variant,,ENST00000481742,;POLR2I,upstream_gene_variant,,ENST00000586439,;TBCB,upstream_gene_variant,,ENST00000589624,;TBCB,upstream_gene_variant,,ENST00000585910,;POLR2I,upstream_gene_variant,,ENST00000589069,;POLR2I,upstream_gene_variant,,ENST00000586789,;POLR2I,upstream_gene_variant,,ENST00000585842,;POLR2I,upstream_gene_variant,,ENST00000592962,;POLR2I,upstream_gene_variant,,ENST00000589591,;	506	44	60	SUCCESS
SHD	56961	.	GRCh37	19	4288320	4288320	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	28	68	0	ENST00000543264.2:c.797T>G	p.Leu266Arg	p.L266R	ENST00000543264	NM_020209.3	266	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS12125.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCTCAGTG	NONE	.	.	Prints_domain:PR00401,Superfamily_domains:SSF55550,SMART_domains:SM00252,Pfam_domain:PF00017,Gene3D:3.30.505.10,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF28,PROSITE_profiles:PS50001	.	.	ENSP00000446058	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000543264	Transcript	.	.	ENSG00000105251	30633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.703)	.	tolerated(0.08)	.	SHD_HUMAN	SHD	HGNC	.	.	UPI000007030D	SNV	SHD,missense_variant,p.Leu266Arg,ENST00000543264,;SHD,intron_variant,,ENST00000599689,;TMIGD2,downstream_gene_variant,,ENST00000600349,;TMIGD2,downstream_gene_variant,,ENST00000301272,;TMIGD2,downstream_gene_variant,,ENST00000595645,;TMIGD2,downstream_gene_variant,,ENST00000600114,;SHD,downstream_gene_variant,,ENST00000600475,;SHD,3_prime_UTR_variant,,ENST00000593383,;SHD,non_coding_transcript_exon_variant,,ENST00000597466,;	2260	68	98	SUCCESS
PNMAL1	0	.	GRCh37	19	46973575	46973575	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs116822170	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	21	0	ENST00000313683.10:c.718C>T	p.Arg240Cys	p.R240C	ENST00000313683	NM_018215.3	240	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS33059.1	718	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGAGACT	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21,Pfam_domain:PF14893	.	.	ENSP00000318131	.	2/3	.	.	.	.	.	.	.	.	rs116822170,COSM3823470,COSM3823471	2/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.835)	.	tolerated(0.07)	0,1,1	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,missense_variant,p.Arg240Cys,ENST00000438932,;PNMAL1,missense_variant,p.Arg240Cys,ENST00000313683,;PNMAL1,intron_variant,,ENST00000602246,;	1024	21	28	SUCCESS
FLT3LG	2323	.	GRCh37	19	49983824	49983824	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	76	0	ENST00000594009.1:c.676A>T	p.Ser226Cys	p.S226C	ENST00000594009	NM_001204503.1	226	Agt/Tgt	0	.	.	.	.	.	T	S/C	protein_coding	YES	CCDS12767.1	676	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCAGTCCC	NONE	.	.	hmmpanther:PTHR11032,hmmpanther:PTHR11032:SF1,Gene3D:1.20.1250.10	.	.	ENSP00000469613	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000594009	Transcript	.	.	ENSG00000090554	3766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.7)	.	tolerated_low_confidence(0.13)	.	FLT3L_HUMAN	FLT3LG	HGNC	Q05C96_HUMAN	.	UPI0000037544	SNV	FLT3LG,missense_variant,p.Ser226Cys,ENST00000600429,;FLT3LG,missense_variant,p.Ser226Cys,ENST00000597551,;FLT3LG,missense_variant,p.Ser144Cys,ENST00000595510,;FLT3LG,missense_variant,p.Gln108Leu,ENST00000598555,;FLT3LG,missense_variant,p.Ser144Cys,ENST00000204637,;FLT3LG,missense_variant,p.Gln50Leu,ENST00000597914,;FLT3LG,missense_variant,p.Ser208Cys,ENST00000596435,;FLT3LG,missense_variant,p.Ser226Cys,ENST00000594009,;FLT3LG,downstream_gene_variant,,ENST00000344019,;CTD-3148I10.15,non_coding_transcript_exon_variant,,ENST00000595815,;FLT3LG,3_prime_UTR_variant,,ENST00000600084,;FLT3LG,3_prime_UTR_variant,,ENST00000601800,;FLT3LG,non_coding_transcript_exon_variant,,ENST00000598472,;CTD-3148I10.9,intron_variant,,ENST00000599536,;FLT3LG,downstream_gene_variant,,ENST00000593422,;	755	76	71	SUCCESS
SIGLEC11	114132	.	GRCh37	19	50464059	50464059	+	synonymous_variant	Silent	SNP	A	A	G	rs764599629	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	14	109	0	ENST00000447370.2:c.210T>C	p.Tyr70=	p.Y70=	ENST00000447370	NM_052884.2	70	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS12790.2	210	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCATAAGC	NONE	byFrequency	.	hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000412361	.	2/11	.	.	.	.	.	.	.	.	rs764599629	2/11	PASS	ENST00000447370	Transcript	.	.	ENSG00000161640	15622	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIG11_HUMAN	SIGLEC11	HGNC	H7BZU6_HUMAN	.	UPI00018131F5	SNV	SIGLEC11,synonymous_variant,p.%3D,ENST00000426971,;SIGLEC11,synonymous_variant,p.%3D,ENST00000447370,;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	301	109	129	SUCCESS
ACPT	0	.	GRCh37	19	51293729	51293729	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1416355711	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	3	41	0	ENST00000270593.1:c.58C>G	p.Leu20Val	p.L20V	ENST00000270593	NM_033068.2	20	Ctg/Gtg	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12802.1	58	MUTECT|MUSE	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11567:SF117,hmmpanther:PTHR11567	.	.	ENSP00000270593	.	1/11	.	.	.	.	.	.	.	.	COSM1244142	1/11	PASS	ENST00000270593	Transcript	.	.	ENSG00000142513	14376	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.001)	.	tolerated(0.27)	1	PPAT_HUMAN	ACPT	HGNC	.	.	UPI0000048D54	SNV	ACPT,missense_variant,p.Leu20Val,ENST00000270594,;ACPT,missense_variant,p.Leu20Val,ENST00000270593,;CTD-2568A17.1,upstream_gene_variant,,ENST00000563228,;CTD-2568A17.1,upstream_gene_variant,,ENST00000562076,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	58	41	54	SUCCESS
ZNF444	55311	.	GRCh37	19	56669904	56669904	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	7	125	0	ENST00000337080.3:c.339G>A	p.Val113=	p.V113=	ENST00000337080	NM_018337.3	113	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS12939.1	339	MUTECT|MUSE	.	AGGGTGCCTCA	NONE	.	.	SMART_domains:SM00431,hmmpanther:PTHR10032:SF77,hmmpanther:PTHR10032	.	.	ENSP00000338860	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000337080	Transcript	.	.	ENSG00000167685	16052	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN444_HUMAN	ZNF444	HGNC	K7ESL2_HUMAN,K7EMV5_HUMAN,K7ELZ3_HUMAN,K7EK55_HUMAN,K7EJH4_HUMAN,K7EJ91_HUMAN	.	UPI000006D7BC	SNV	ZNF444,synonymous_variant,p.%3D,ENST00000592949,;ZNF444,synonymous_variant,p.%3D,ENST00000337080,;ZNF444,non_coding_transcript_exon_variant,,ENST00000587664,;ZNF444,non_coding_transcript_exon_variant,,ENST00000592171,;ZNF444,downstream_gene_variant,,ENST00000587195,;ZNF444,non_coding_transcript_exon_variant,,ENST00000587236,;	706	125	176	SUCCESS
GSTM3	2947	.	GRCh37	1	110280323	110280323	+	synonymous_variant	Silent	SNP	T	T	C	rs1271674725	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	100	177	0	ENST00000256594.3:c.423A>G	p.Gln141=	p.Q141=	ENST00000256594		141	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS812.1	423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAATTGTTT	NONE	.	.	PROSITE_profiles:PS50405,hmmpanther:PTHR11571:SF128,hmmpanther:PTHR11571,Gene3D:1.20.1050.10,Pfam_domain:PF00043,Superfamily_domains:SSF47616	.	.	ENSP00000444978	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000540225	Transcript	.	.	ENSG00000134202	4635	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTM3_HUMAN	GSTM3	HGNC	Q6FGJ9_HUMAN	.	UPI000013CF17	SNV	GSTM3,synonymous_variant,p.%3D,ENST00000256594,;GSTM3,synonymous_variant,p.%3D,ENST00000361066,;GSTM3,synonymous_variant,p.%3D,ENST00000540225,;RP4-735C1.4,intron_variant,,ENST00000431955,;GSTM3,non_coding_transcript_exon_variant,,ENST00000486823,;GSTM3,non_coding_transcript_exon_variant,,ENST00000476321,;GSTM3,non_coding_transcript_exon_variant,,ENST00000488824,;GSTM5,intron_variant,,ENST00000429410,;	734	177	246	SUCCESS
CHD1L	9557	.	GRCh37	1	146765405	146765405	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	43	0	ENST00000369258.4:c.2505A>C	p.Lys835Asn	p.K835N	ENST00000369258	NM_001256336.1	835	aaA/aaC	0	.	.	.	.	.	C	K/N	protein_coding	YES	CCDS927.1	2505	MUTECT|MUSE	.	AAGAAAGGTAA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF52949,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF558,PROSITE_profiles:PS51154	.	.	ENSP00000358262	.	21/23	.	.	.	.	.	.	.	.	.	21/23	PASS	ENST00000369258	Transcript	.	.	ENSG00000131778	1916	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.46)	.	CHD1L_HUMAN	CHD1L	HGNC	B5MDZ7_HUMAN	.	UPI000020566F	SNV	CHD1L,missense_variant,p.Lys631Asn,ENST00000369259,;CHD1L,missense_variant,p.Lys835Asn,ENST00000369258,;CHD1L,missense_variant,p.Lys741Asn,ENST00000431239,;CHD1L,missense_variant,p.Lys554Asn,ENST00000361293,;CHD1L,splice_region_variant,,ENST00000467213,;	2525	43	75	SUCCESS
FLG2	388698	.	GRCh37	1	152328015	152328015	+	synonymous_variant	Silent	SNP	C	C	G	rs754912891,rs777133900	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	100	116	0	ENST00000388718.5:c.2247G>C	p.Gly749=	p.G749=	ENST00000388718	NM_001014342.2	749	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS30861.1	2247	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGACCCATG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	rs754912891,rs777133900	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,synonymous_variant,p.%3D,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	2320	116	198	SUCCESS
CRTC2	200186	.	GRCh37	1	153931013	153931024	+	5_prime_UTR_variant	5'UTR	DEL	GCCGCGGCCTCC	GCCGCGGCCTCC	-	rs756761053	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	GCCGCGGCCTCC	GCCGCGGCCTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	63	0	ENST00000368633.1:c.-51_-40del		p.*17*	ENST00000368633	NM_181715.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30875.1	.	INDELOCATOR|VARSCANI	.	GTACCAGCCGCGGCCTCCGCCGC	NONE	byFrequency	.	.	.	.	ENSP00000357622	.	1/14	.	.	.	.	.	.	.	.	rs756761053	1/14	PASS	ENST00000368633	Transcript	.	.	ENSG00000160741	27301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRTC2_HUMAN	CRTC2	HGNC	Q8WZ18_HUMAN,Q8N332_HUMAN	.	UPI00001A9468	deletion	CRTC2,5_prime_UTR_variant,,ENST00000368633,;CRTC2,5_prime_UTR_variant,,ENST00000368630,;SLC39A1,downstream_gene_variant,,ENST00000413622,;SLC39A1,downstream_gene_variant,,ENST00000417348,;SLC39A1,downstream_gene_variant,,ENST00000310483,;SLC39A1,downstream_gene_variant,,ENST00000429040,;SLC39A1,downstream_gene_variant,,ENST00000356205,;SLC39A1,downstream_gene_variant,,ENST00000368623,;SLC39A1,downstream_gene_variant,,ENST00000368621,;SLC39A1,downstream_gene_variant,,ENST00000537590,;CRTC2,upstream_gene_variant,,ENST00000492073,;SLC39A1,downstream_gene_variant,,ENST00000461071,;CRTC2,upstream_gene_variant,,ENST00000476883,;CRTC2,5_prime_UTR_variant,,ENST00000303569,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,upstream_gene_variant,,ENST00000461638,;	78-89	63	87	SUCCESS
SSR2	6746	.	GRCh37	1	155984782	155984782	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	47	88	0	ENST00000295702.4:c.333T>G	p.Thr111=	p.T111=	ENST00000295702	NM_003145.3	111	acT/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS1126.1	333	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTAAGTAAT	NONE	.	.	hmmpanther:PTHR12861,Pfam_domain:PF05753,PIRSF_domain:PIRSF016400	.	.	ENSP00000295702	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000295702	Transcript	.	.	ENSG00000163479	11324	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSRB_HUMAN	SSR2	HGNC	E9PQI4_HUMAN,E9PQ05_HUMAN,B4DUJ9_HUMAN	.	UPI0000136002	SNV	SSR2,synonymous_variant,p.%3D,ENST00000531917,;SSR2,synonymous_variant,p.%3D,ENST00000295702,;SSR2,synonymous_variant,p.%3D,ENST00000480567,;SSR2,intron_variant,,ENST00000496742,;SSR2,intron_variant,,ENST00000529008,;SSR2,downstream_gene_variant,,ENST00000526212,;SSR2,synonymous_variant,p.%3D,ENST00000474377,;SSR2,synonymous_variant,p.%3D,ENST00000466905,;SSR2,non_coding_transcript_exon_variant,,ENST00000484320,;SSR2,non_coding_transcript_exon_variant,,ENST00000488179,;SSR2,non_coding_transcript_exon_variant,,ENST00000532074,;SSR2,non_coding_transcript_exon_variant,,ENST00000368311,;SSR2,non_coding_transcript_exon_variant,,ENST00000472898,;SSR2,intron_variant,,ENST00000473699,;SSR2,intron_variant,,ENST00000531790,;SSR2,intron_variant,,ENST00000480176,;SSR2,upstream_gene_variant,,ENST00000472467,;	405	88	240	SUCCESS
OR6K6	128371	.	GRCh37	1	158724833	158724833	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	46	86	0	ENST00000368144.2:c.228C>T	p.Val76=	p.V76=	ENST00000368144	NM_001005184.1	76	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS30904.1	228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTCATCCA	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000357126	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368144	Transcript	.	.	ENSG00000180433	15033	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR6K6_HUMAN	OR6K6	HGNC	.	.	UPI000015F229	SNV	OR6K6,synonymous_variant,p.%3D,ENST00000368144,;	324	86	148	SUCCESS
CEP350	9857	.	GRCh37	1	180000501	180000501	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	234	286	260	0	ENST00000367607.3:c.3597G>C	p.Glu1199Asp	p.E1199D	ENST00000367607	NM_014810.4	1199	gaG/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS1336.1	3597	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGGAAAA	NONE	.	.	hmmpanther:PTHR13958	.	.	ENSP00000356579	.	15/38	.	.	.	.	.	.	.	.	.	15/38	PASS	ENST00000367607	Transcript	.	.	ENSG00000135837	24238	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	.	.	CE350_HUMAN	CEP350	HGNC	Q5T2X4_HUMAN	.	UPI000013CFC5	SNV	CEP350,missense_variant,p.Glu1199Asp,ENST00000367607,;	4015	260	520	SUCCESS
TPR	7175	.	GRCh37	1	186322973	186322973	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	13	29	0	ENST00000367478.4:c.2181G>T	p.Met727Ile	p.M727I	ENST00000367478	NM_003292.2	727	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS41446.1	2181	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGCATTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898	.	.	ENSP00000356448	.	18/51	.	.	.	.	.	.	.	.	.	18/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.019)	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,missense_variant,p.Met727Ile,ENST00000367478,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,non_coding_transcript_exon_variant,,ENST00000469463,;TPR,non_coding_transcript_exon_variant,,ENST00000491783,;	2478	29	77	SUCCESS
MLK4	0	.	GRCh37	1	233514789	233514789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	229	17	197	0	ENST00000366624.3:c.2037G>T	p.Gln679His	p.Q679H	ENST00000366624	NM_032435.2	679	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS1598.1	2037	MUTECT|MUSE	.	GCTCAGAGAGA	NONE	.	.	PIRSF_domain:PIRSF000556	.	.	ENSP00000355583	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000366624	Transcript	.	.	ENSG00000143674	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.062)	.	tolerated(0.22)	.	M3KL4_HUMAN	MLK4	Uniprot_gn	.	.	UPI000013D922	SNV	MLK4,missense_variant,p.Gln679His,ENST00000366624,;MLK4,missense_variant,p.Gln125His,ENST00000366622,;MLK4,downstream_gene_variant,,ENST00000366623,;	2298	197	246	SUCCESS
LSM10	84967	.	GRCh37	1	36859597	36859597	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	36	68	0	ENST00000315732.2:c.134A>T	p.Asn45Ile	p.N45I	ENST00000315732	NM_032881.1	45	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS408.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACATTGTCT	NONE	.	.	hmmpanther:PTHR21196,hmmpanther:PTHR21196:SF1,Gene3D:2.30.30.100,Pfam_domain:PF01423,SMART_domains:SM00651,Superfamily_domains:SSF50182	.	.	ENSP00000319341	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315732	Transcript	.	.	ENSG00000181817	17562	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	LSM10_HUMAN	LSM10	HGNC	.	.	UPI000012E96D	SNV	LSM10,missense_variant,p.Asn45Ile,ENST00000315732,;LSM10,non_coding_transcript_exon_variant,,ENST00000476041,;LSM10,downstream_gene_variant,,ENST00000489912,;	284	68	98	SUCCESS
ZC3H12A	80149	.	GRCh37	1	37945929	37945929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	58	0	ENST00000373087.6:c.482T>A	p.Leu161Gln	p.L161Q	ENST00000373087	NM_025079.2	161	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS417.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCTGCTGG	NONE	.	.	Pfam_domain:PF11977,hmmpanther:PTHR12876:SF10,hmmpanther:PTHR12876	.	.	ENSP00000362179	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000373087	Transcript	.	.	ENSG00000163874	26259	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.268)	.	tolerated(0.81)	.	ZC12A_HUMAN	ZC3H12A	HGNC	C0LED9_HUMAN	.	UPI000004D30E	SNV	ZC3H12A,missense_variant,p.Leu161Gln,ENST00000373087,;ZC3H12A,upstream_gene_variant,,ENST00000471012,;ZC3H12A,non_coding_transcript_exon_variant,,ENST00000472312,;	598	58	71	SUCCESS
FAAH	2166	.	GRCh37	1	46876499	46876499	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	49	0	ENST00000243167.8:c.1289C>T	p.Ser430Leu	p.S430L	ENST00000243167	NM_001441.2	430	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS535.1	1289	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCAGCTT	NONE	.	.	hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF51,Gene3D:3.90.1300.10,Pfam_domain:PF01425,PIRSF_domain:PIRSF001221,Superfamily_domains:SSF75304	.	.	ENSP00000243167	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000243167	Transcript	.	.	ENSG00000117480	3553	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.09)	.	FAAH1_HUMAN	FAAH	HGNC	.	.	UPI000013C9E7	SNV	FAAH,missense_variant,p.Ser430Leu,ENST00000243167,;FAAH,non_coding_transcript_exon_variant,,ENST00000493636,;FAAH,non_coding_transcript_exon_variant,,ENST00000484697,;FAAH,downstream_gene_variant,,ENST00000489366,;FAAH,downstream_gene_variant,,ENST00000493735,;	1373	49	49	SUCCESS
SRSF11	9295	.	GRCh37	1	70716344	70716345	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	225	84	178	0	ENST00000370950.3:c.1317dup	p.Glu440ArgfsTer12	p.E440Rfs*12	ENST00000370950		437	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS647.1	1311-1312	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAGAGAAAAA	NONE	.	.	hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF6,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000359988	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000370950	Transcript	.	.	ENSG00000116754	10782	6	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRS11_HUMAN	SRSF11	HGNC	Q6N079_HUMAN	.	UPI00001358C5	insertion	SRSF11,frameshift_variant,p.Glu440ArgfsTer12,ENST00000405432,;SRSF11,frameshift_variant,p.Glu439ArgfsTer12,ENST00000370951,;SRSF11,frameshift_variant,p.Glu380ArgfsTer12,ENST00000370949,;SRSF11,frameshift_variant,p.Glu440ArgfsTer12,ENST00000370950,;SRSF11,downstream_gene_variant,,ENST00000395136,;SRSF11,non_coding_transcript_exon_variant,,ENST00000461935,;SRSF11,non_coding_transcript_exon_variant,,ENST00000484162,;SRSF11,non_coding_transcript_exon_variant,,ENST00000460795,;SRSF11,non_coding_transcript_exon_variant,,ENST00000463859,;SRSF11,non_coding_transcript_exon_variant,,ENST00000489188,;	1393-1394	178	309	SUCCESS
FUBP1	8880	.	GRCh37	1	78444665	78444665	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	37	0	ENST00000370768.2:c.24T>C	p.Pro8=	p.P8=	ENST00000370768	NM_003902.3	8	ccT/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS683.1	24	MUTECT|MUSE	.	GGGGGAGGCAC	NONE	.	.	.	.	.	ENSP00000359804	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000370768	Transcript	.	.	ENSG00000162613	4004	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUBP1_HUMAN	FUBP1	HGNC	.	.	UPI0000070218	SNV	FUBP1,synonymous_variant,p.%3D,ENST00000436586,;FUBP1,synonymous_variant,p.%3D,ENST00000370767,;FUBP1,synonymous_variant,p.%3D,ENST00000370768,;FUBP1,synonymous_variant,p.%3D,ENST00000421641,;DNAJB4,upstream_gene_variant,,ENST00000426517,;GIPC2,upstream_gene_variant,,ENST00000476882,;DNAJB4,upstream_gene_variant,,ENST00000484662,;DNAJB4,upstream_gene_variant,,ENST00000477671,;DNAJB4,upstream_gene_variant,,ENST00000487931,;FUBP1,synonymous_variant,p.%3D,ENST00000294623,;	106	37	52	SUCCESS
SOGA1	140710	.	GRCh37	20	35414900	35414900	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	11	22	0	ENST00000237536.4:c.4974C>A	p.Pro1658=	p.P1658=	ENST00000237536	NM_080627.2	1658	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS54459.1	4974	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGGGGAG	NONE	.	.	hmmpanther:PTHR15742:SF1,hmmpanther:PTHR15742	.	.	ENSP00000237536	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,synonymous_variant,p.%3D,ENST00000237536,;SOGA1,synonymous_variant,p.%3D,ENST00000357779,;SOGA1,synonymous_variant,p.%3D,ENST00000456801,;SOGA1,intron_variant,,ENST00000279034,;SOGA1,synonymous_variant,p.%3D,ENST00000465671,;	5316	22	27	SUCCESS
SRSF6	6431	.	GRCh37	20	42086582	42086582	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	21	0	ENST00000244020.3:c.-92C>T		p.*31*	ENST00000244020	NM_006275.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13318.1	.	MUTECT|MUSE	.	GTGTTCGGGCT	NONE	.	.	.	.	.	ENSP00000244020	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000244020	Transcript	.	.	ENSG00000124193	10788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRSF6_HUMAN	SRSF6	HGNC	.	.	UPI00001358C1	SNV	SRSF6,5_prime_UTR_variant,,ENST00000244020,;SRSF6,5_prime_UTR_variant,,ENST00000483871,;	15	22	27	SUCCESS
PSMG1	8624	.	GRCh37	21	40549463	40549463	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	37	73	0	ENST00000331573.3:c.690A>G	p.Ala230=	p.A230=	ENST00000331573	NM_003720.3	230	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS13660.1	690	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAATTGCTGG	NONE	.	.	hmmpanther:PTHR15069,PIRSF_domain:PIRSF010076	.	.	ENSP00000329915	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000331573	Transcript	.	.	ENSG00000183527	3043	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSMG1_HUMAN	PSMG1	HGNC	.	.	UPI000012990A	SNV	PSMG1,synonymous_variant,p.%3D,ENST00000380900,;PSMG1,synonymous_variant,p.%3D,ENST00000331573,;PSMG1,3_prime_UTR_variant,,ENST00000411828,;PSMG1,3_prime_UTR_variant,,ENST00000431628,;PSMG1,non_coding_transcript_exon_variant,,ENST00000481921,;	1156	73	82	SUCCESS
MYO18B	84700	.	GRCh37	22	26298630	26298630	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs762496839	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	11	68	0	ENST00000536101.1:c.4874G>A	p.Gly1625Asp	p.G1625D	ENST00000536101		1625	gGt/gAt	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS54507.1	4874	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGTCTCC	NONE	.	.	hmmpanther:PTHR13140:SF254,hmmpanther:PTHR13140	.	.	ENSP00000334563	.	30/44	.	.	.	.	.	.	.	.	rs762496839	30/44	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.087)	.	tolerated(0.39)	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,missense_variant,p.Gly1625Asp,ENST00000335473,;MYO18B,missense_variant,p.Gly1625Asp,ENST00000536101,;MYO18B,missense_variant,p.Gly1626Asp,ENST00000407587,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,upstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000599792,;CTA-125H2.2,upstream_gene_variant,,ENST00000599080,;CTA-125H2.2,upstream_gene_variant,,ENST00000594542,;CTA-125H2.2,upstream_gene_variant,,ENST00000609275,;CTA-125H2.2,upstream_gene_variant,,ENST00000600211,;CTA-125H2.2,upstream_gene_variant,,ENST00000609157,;CTA-125H2.2,upstream_gene_variant,,ENST00000608115,;CTA-125H2.2,upstream_gene_variant,,ENST00000453457,;CTA-125H2.2,upstream_gene_variant,,ENST00000594856,;CTA-125H2.2,upstream_gene_variant,,ENST00000597284,;CTA-125H2.2,upstream_gene_variant,,ENST00000600903,;CTA-125H2.2,upstream_gene_variant,,ENST00000609570,;CTA-125H2.2,upstream_gene_variant,,ENST00000608507,;CTA-125H2.2,upstream_gene_variant,,ENST00000594585,;CTA-125H2.2,upstream_gene_variant,,ENST00000600269,;CTA-125H2.2,upstream_gene_variant,,ENST00000597548,;CTA-125H2.2,upstream_gene_variant,,ENST00000595102,;CTA-125H2.2,upstream_gene_variant,,ENST00000607895,;CTA-125H2.2,upstream_gene_variant,,ENST00000609823,;MYO18B,non_coding_transcript_exon_variant,,ENST00000536204,;MYO18B,non_coding_transcript_exon_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	5124	68	91	SUCCESS
IL18RAP	8807	.	GRCh37	2	103057777	103057777	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	31	43	0	ENST00000264260.2:c.736G>A	p.Asp246Asn	p.D246N	ENST00000264260	NM_003853.2	246	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS2061.1	736	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGACACT	NONE	.	.	hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4	.	.	ENSP00000264260	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000264260	Transcript	.	.	ENSG00000115607	5989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	I18RA_HUMAN	IL18RAP	HGNC	Q3KPE8_HUMAN,C9JLE2_HUMAN	.	UPI0000071CAF	SNV	IL18RAP,missense_variant,p.Asp104Asn,ENST00000409369,;IL18RAP,missense_variant,p.Asp246Asn,ENST00000264260,;AC007278.3,downstream_gene_variant,,ENST00000450893,;	1325	43	65	SUCCESS
GRB14	2888	.	GRCh37	2	165350963	165350964	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs776664771	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	291	52	206	0	ENST00000263915.3:c.1453dup	p.Ile485AsnfsTer12	p.I485Nfs*12	ENST00000263915	NM_004490.2	485	ata/aAta	0	.	.	.	.	.	T	I/NX	protein_coding	YES	CCDS2222.1	1453-1454	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTTTATTTTT	NONE	.	.	PROSITE_profiles:PS50001,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF22,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	.	.	ENSP00000263915	.	13/14	.	.	.	.	.	.	.	.	rs776664771	13/14	PASS	ENST00000263915	Transcript	.	.	ENSG00000115290	4565	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRB14_HUMAN	GRB14	HGNC	Q53QQ0_HUMAN,Q53QM9_HUMAN	.	UPI000013D489	insertion	GRB14,frameshift_variant,p.Ile485AsnfsTer12,ENST00000263915,;GRB14,frameshift_variant,p.Ile398AsnfsTer12,ENST00000543549,;GRB14,downstream_gene_variant,,ENST00000446413,;GRB14,intron_variant,,ENST00000497306,;GRB14,non_coding_transcript_exon_variant,,ENST00000488342,;	1992-1993	206	343	SUCCESS
HOXD12	3238	.	GRCh37	2	176964607	176964607	+	synonymous_variant	Silent	SNP	C	C	T	rs758678753	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	32	69	0	ENST00000406506.2:c.78C>T	p.Phe26=	p.F26=	ENST00000406506		26	ttC/ttT	0	.	.	.	.	.	T	F	protein_coding	YES	CCDS46456.1	78	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCTCCAA	NONE	.	.	hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF40	.	.	ENSP00000385586	.	1/2	.	.	.	.	.	.	.	.	rs758678753	1/2	PASS	ENST00000406506	Transcript	.	.	ENSG00000170178	5135	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXD12_HUMAN	HOXD12	HGNC	.	.	UPI0000EE2EA3	SNV	HOXD12,synonymous_variant,p.%3D,ENST00000404162,;HOXD12,synonymous_variant,p.%3D,ENST00000406506,;HOXD13,downstream_gene_variant,,ENST00000392539,;HOXD11,upstream_gene_variant,,ENST00000498438,;	150	69	91	SUCCESS
FSIP2	401024	.	GRCh37	2	186673007	186673007	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	44	178	0	ENST00000424728.1:c.18974T>G	p.Ile6325Ser	p.I6325S	ENST00000424728		6325	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS54426.1	19241	RADIA|MUTECT|MUSE	.	CAAAATTATTG	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	COSM1403892,COSM1403893	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	.	possibly_damaging(0.89)	.	.	1,1	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Ile6414Ser,ENST00000343098,;FSIP2,missense_variant,p.Ile6325Ser,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	19241	178	246	SUCCESS
FSIP2	401024	.	GRCh37	2	186673014	186673014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	43	180	0	ENST00000424728.1:c.18981T>A	p.Asp6327Glu	p.D6327E	ENST00000424728		6327	gaT/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS54426.1	19248	RADIA|MUTECT|MUSE	.	ATTGATGAACT	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Asp6416Glu,ENST00000343098,;FSIP2,missense_variant,p.Asp6327Glu,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	19248	180	250	SUCCESS
OBSL1	23363	.	GRCh37	2	220435996	220435996	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	rs879691022	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	32	1	ENST00000404537.1:c.-42T>C		p.*14*	ENST00000404537	NM_015311.2			0	-:0.0737	.	.	.	.	G	.	protein_coding	YES	CCDS46520.1	.	SOMATICSNIPER|VARSCANS	.	GGGGCAGGGGG	NONE	byFrequency	.	.	.	-:0.1303	ENSP00000385636	.	1/21	.	.	.	.	.	.	.	.	rs757193063	1/21	PASS	ENST00000404537	Transcript	.	.	ENSG00000124006	29092	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OBSL1_HUMAN	OBSL1	HGNC	.	.	UPI0000E07EA0	SNV	OBSL1,5_prime_UTR_variant,,ENST00000603926,;OBSL1,5_prime_UTR_variant,,ENST00000265318,;OBSL1,5_prime_UTR_variant,,ENST00000404537,;OBSL1,5_prime_UTR_variant,,ENST00000373873,;OBSL1,intron_variant,,ENST00000289656,;INHA,upstream_gene_variant,,ENST00000243786,;OBSL1,upstream_gene_variant,,ENST00000373876,;INHA,intron_variant,,ENST00000489456,;OBSL1,intron_variant,,ENST00000465589,;OBSL1,intron_variant,,ENST00000491370,;OBSL1,upstream_gene_variant,,ENST00000465149,;	16	33	49	SUCCESS
EHD3	30845	.	GRCh37	2	31472315	31472315	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	58	0	ENST00000322054.5:c.483G>A	p.Glu161=	p.E161=	ENST00000322054	NM_014600.2	161	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS1774.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAGAAGCA	NONE	.	.	PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Pfam_domain:PF00350,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000327116	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000322054	Transcript	.	.	ENSG00000013016	3244	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHD3_HUMAN	EHD3	HGNC	.	.	UPI0000140D07	SNV	EHD3,synonymous_variant,p.%3D,ENST00000322054,;EHD3,synonymous_variant,p.%3D,ENST00000541626,;	768	58	64	SUCCESS
BIRC6	57448	.	GRCh37	2	32689764	32689764	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs1456012932	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	43	112	0	ENST00000421745.2:c.5129C>G	p.Thr1710Ser	p.T1710S	ENST00000421745	NM_016252.3	1710	aCt/aGt	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS33175.2	5129	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACTCCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	.	.	ENSP00000393596	.	25/74	.	.	.	.	.	.	.	.	.	25/74	PASS	ENST00000421745	Transcript	.	.	ENSG00000115760	13516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	.	.	BIRC6_HUMAN	BIRC6	HGNC	.	.	UPI0001611442	SNV	BIRC6,missense_variant,p.Thr1710Ser,ENST00000421745,;	5263	112	107	SUCCESS
PCBP1	5093	.	GRCh37	2	70315913	70315913	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	31	56	0	ENST00000303577.5:c.1038G>T	p.Arg346Ser	p.R346S	ENST00000303577	NM_006196.3	346	agG/agT	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS1898.1	1038	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCTTTC	NONE	.	.	hmmpanther:PTHR10288:SF96,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	tolerated(0.33)	.	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	SNV	PCBP1,missense_variant,p.Arg346Ser,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;PCBP1-AS1,non_coding_transcript_exon_variant,,ENST00000596028,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;	1329	56	60	SUCCESS
C2orf81	388963	.	GRCh37	2	74642705	74642705	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	39	0	ENST00000290390.5:c.518G>A	p.Trp173Ter	p.W173*	ENST00000290390	NM_001145054.1	173	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	.	518	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCACGAC	NONE	.	.	Pfam_domain:PF15479	.	.	ENSP00000290390	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290390	Transcript	.	.	ENSG00000159239	34350	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	C2orf81	HGNC	G3XAA6_HUMAN	.	UPI0000EE2496	SNV	C2orf81,stop_gained,p.Trp105Ter,ENST00000517883,;C2orf81,stop_gained,p.Trp105Ter,ENST00000518863,;C2orf81,stop_gained,p.Trp173Ter,ENST00000290390,;C2orf81,downstream_gene_variant,,ENST00000518401,;C2orf81,downstream_gene_variant,,ENST00000517896,;HMGA1P8,downstream_gene_variant,,ENST00000414130,;AC005041.11,upstream_gene_variant,,ENST00000448783,;	827	39	60	SUCCESS
PEX5L	51555	.	GRCh37	3	179689381	179689381	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs1352027438	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	27	51	0	ENST00000467460.1:c.93+1G>A		p.X31_splice	ENST00000467460	NM_001256751.1	31		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3236.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACCTGCT	NONE	.	.	.	.	.	ENSP00000419975	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000467460	Transcript	.	.	ENSG00000114757	30024	.	.	HIGH	2/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEX5R_HUMAN	PEX5L	HGNC	C9JZE2_HUMAN,C9IZ09_HUMAN	.	UPI0000049CE2	SNV	PEX5L,splice_donor_variant,,ENST00000463761,;PEX5L,splice_donor_variant,,ENST00000476138,;PEX5L,splice_donor_variant,,ENST00000464614,;PEX5L,splice_donor_variant,,ENST00000485199,;PEX5L,splice_donor_variant,,ENST00000468741,;PEX5L,splice_donor_variant,,ENST00000467460,;PEX5L,splice_donor_variant,,ENST00000469198,;PEX5L,intron_variant,,ENST00000472994,;PEX5L,intron_variant,,ENST00000263962,;PEX5L,intron_variant,,ENST00000465751,;PEX5L,splice_donor_variant,,ENST00000487198,;PEX5L,splice_donor_variant,,ENST00000474909,;	.	51	72	SUCCESS
IP6K2	51447	.	GRCh37	3	48731726	48731726	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	159	234	191	0	ENST00000328631.5:c.202+797G>A		p.*68*	ENST00000328631	NM_016291.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCCCCACC	NONE	.	.	.	.	.	ENSP00000331103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328631	Transcript	.	.	ENSG00000068745	17313	.	.	MODIFIER	2/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP6K2_HUMAN	IP6K2	HGNC	C9JU99_HUMAN,C9JMC9_HUMAN,C9JLG7_HUMAN,C9JK62_HUMAN,C9JHX0_HUMAN,C9JGK2_HUMAN,B2RCP4_HUMAN	.	UPI00000732B2	SNV	IP6K2,3_prime_UTR_variant,,ENST00000431721,;IP6K2,3_prime_UTR_variant,,ENST00000449610,;IP6K2,3_prime_UTR_variant,,ENST00000446860,;IP6K2,intron_variant,,ENST00000413298,;IP6K2,intron_variant,,ENST00000449563,;IP6K2,intron_variant,,ENST00000412850,;IP6K2,intron_variant,,ENST00000413654,;IP6K2,intron_variant,,ENST00000437427,;IP6K2,intron_variant,,ENST00000454335,;IP6K2,intron_variant,,ENST00000455545,;IP6K2,intron_variant,,ENST00000340879,;IP6K2,intron_variant,,ENST00000443853,;IP6K2,intron_variant,,ENST00000450045,;IP6K2,intron_variant,,ENST00000328631,;IP6K2,intron_variant,,ENST00000432678,;IP6K2,downstream_gene_variant,,ENST00000453202,;IP6K2,downstream_gene_variant,,ENST00000434860,;IP6K2,downstream_gene_variant,,ENST00000424035,;IP6K2,downstream_gene_variant,,ENST00000417896,;IP6K2,downstream_gene_variant,,ENST00000440424,;IP6K2,downstream_gene_variant,,ENST00000443964,;IP6K2,downstream_gene_variant,,ENST00000436134,;IP6K2,intron_variant,,ENST00000479914,;IP6K2,intron_variant,,ENST00000412795,;IP6K2,intron_variant,,ENST00000416707,;IP6K2,intron_variant,,ENST00000433104,;IP6K2,upstream_gene_variant,,ENST00000491686,;	.	191	393	SUCCESS
ENPEP	2028	.	GRCh37	4	111412219	111412219	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs139258778	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	5	115	0	ENST00000265162.5:c.817C>T	p.Arg273Ter	p.R273*	ENST00000265162	NM_001977.3	273	Cga/Tga	0	T:0.0005	.	.	.	.	T	R/*	protein_coding	YES	CCDS3691.1	817	MUTECT|MUSE	.	GGACTCGAACA	NONE	byCluster	.	Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165	.	T:0	ENSP00000265162	.	3/20	.	.	.	.	.	.	.	.	rs139258778	3/20	PASS	ENST00000265162	Transcript	.	.	ENSG00000138792	3355	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMPE_HUMAN	ENPEP	HGNC	.	.	UPI000013D5C6	SNV	ENPEP,stop_gained,p.Arg273Ter,ENST00000265162,;ENPEP,non_coding_transcript_exon_variant,,ENST00000510961,;	1159	115	109	SUCCESS
ANK2	287	.	GRCh37	4	114274408	114274408	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	79	130	0	ENST00000357077.4:c.4634C>G	p.Pro1545Arg	p.P1545R	ENST00000357077	NM_001148.4	1545	cCa/cGa	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS3702.1	4634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCAGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123	.	.	ENSP00000349588	.	38/46	.	.	.	.	.	.	.	.	.	38/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Pro1512Arg,ENST00000264366,;ANK2,missense_variant,p.Pro1458Arg,ENST00000503423,;ANK2,missense_variant,p.Pro1545Arg,ENST00000357077,;ANK2,missense_variant,p.Pro1560Arg,ENST00000504454,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000394537,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	4687	130	101	SUCCESS
LARP1B	55132	.	GRCh37	4	129019441	129019441	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	13	36	0	ENST00000326639.6:c.769C>T	p.Gln257Ter	p.Q257*	ENST00000326639	NM_018078.3	257	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3738.1	769	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCAGCGT	NONE	.	.	PROSITE_profiles:PS50961,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50,Gene3D:1.10.10.10,Pfam_domain:PF05383,SMART_domains:SM00715,Superfamily_domains:SSF46785	.	.	ENSP00000321997	.	8/20	.	.	.	.	.	.	.	.	.	8/20	PASS	ENST00000326639	Transcript	.	.	ENSG00000138709	24704	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAR1B_HUMAN	LARP1B	HGNC	.	.	UPI0000190831	SNV	LARP1B,stop_gained,p.Gln257Ter,ENST00000432347,;LARP1B,stop_gained,p.Gln257Ter,ENST00000441387,;LARP1B,stop_gained,p.Gln257Ter,ENST00000512292,;LARP1B,stop_gained,p.Gln257Ter,ENST00000427266,;LARP1B,stop_gained,p.Gln210Ter,ENST00000264584,;LARP1B,stop_gained,p.Gln257Ter,ENST00000326639,;LARP1B,stop_gained,p.Gln257Ter,ENST00000394288,;LARP1B,stop_gained,p.Gln226Ter,ENST00000507377,;LARP1B,stop_gained,p.Gln210Ter,ENST00000508819,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;	980	36	68	SUCCESS
ZNF827	152485	.	GRCh37	4	146823924	146823924	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs139372039	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	27	43	0	ENST00000508784.1:c.487G>T	p.Ala163Ser	p.A163S	ENST00000508784		163	Gcc/Tcc	0	T:0	.	.	.	.	A	A/S	protein_coding	YES	CCDS34072.1	487	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGTGGT	NONE	byCluster	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	T:0.0001	ENSP00000368761	.	2/15	.	.	.	.	.	.	.	.	rs139372039	2/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Ala163Ser,ENST00000508784,;ZNF827,missense_variant,p.Ala163Ser,ENST00000379448,;ZNF827,intron_variant,,ENST00000513320,;	551	43	52	SUCCESS
FAM198B	0	.	GRCh37	4	159091367	159091367	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	36	0	ENST00000393807.5:c.1011+32A>G		p.*337*	ENST00000393807	NM_001031700.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34087.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATGGAGA	NONE	.	.	.	.	.	ENSP00000377396	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393807	Transcript	.	.	ENSG00000164125	25312	.	.	MODIFIER	3/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F198B_HUMAN	FAM198B	HGNC	K7EK71_HUMAN	.	UPI00003672A2	SNV	FAM198B,3_prime_UTR_variant,,ENST00000592057,;FAM198B,intron_variant,,ENST00000593260,;FAM198B,intron_variant,,ENST00000296530,;FAM198B,intron_variant,,ENST00000393807,;FAM198B,intron_variant,,ENST00000585682,;FAM198B,downstream_gene_variant,,ENST00000587787,;FAM198B,upstream_gene_variant,,ENST00000592586,;RP11-597D13.9,upstream_gene_variant,,ENST00000514381,;RP11-597D13.9,upstream_gene_variant,,ENST00000505532,;RP11-597D13.9,upstream_gene_variant,,ENST00000509463,;RP11-597D13.9,upstream_gene_variant,,ENST00000503611,;FAM198B,intron_variant,,ENST00000589306,;	.	36	59	SUCCESS
AGA	175	.	GRCh37	4	178355598	178355598	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs148052291	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	353	101	187	0	ENST00000264595.2:c.744del	p.Asp248GlufsTer16	p.D248Efs*16	ENST00000264595	NM_001171988.1	248	gaC/ga	0	A:0.0002	A:0	.	A:0	.	-	D/X	protein_coding	YES	CCDS3829.1	744	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTATCGTCAGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF6,Pfam_domain:PF01112,Superfamily_domains:SSF56235	A:0.0069	A:0	ENSP00000264595	A:0	7/9	.	.	.	.	.	.	.	.	rs148052291,COSM208376	7/9	PASS	ENST00000264595	Transcript	1	A:0.0014	ENSG00000038002	318	.	.	HIGH	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	A:0	.	0,1	ASPG_HUMAN	AGA	HGNC	Q6LD43_HUMAN	.	UPI000013D53C	deletion	AGA,frameshift_variant,p.Asp248GlufsTer16,ENST00000264595,;AGA,frameshift_variant,p.Asp137GlufsTer?,ENST00000510635,;AGA,frameshift_variant,p.Asp105GlufsTer16,ENST00000502310,;AGA,non_coding_transcript_exon_variant,,ENST00000506853,;AGA,downstream_gene_variant,,ENST00000510955,;	872	187	454	SUCCESS
TENM3	55714	.	GRCh37	4	183721246	183721246	+	synonymous_variant	Silent	SNP	C	C	T	rs772839377	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	33	48	0	ENST00000511685.1:c.7842C>T	p.Asp2614=	p.D2614=	ENST00000511685		2614	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS47165.1	7842	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGACGAGGA	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Pfam_domain:PF15636	.	.	ENSP00000424226	.	28/28	.	.	.	.	.	.	.	.	rs772839377	28/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,synonymous_variant,p.%3D,ENST00000511685,;TENM3,synonymous_variant,p.%3D,ENST00000406950,;	7965	48	89	SUCCESS
ADD1	118	.	GRCh37	4	2909499	2909499	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	16	90	0	ENST00000398129.1:c.1443C>A	p.Ser481=	p.S481=	ENST00000398129		481	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS3363.1	1536	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCCACCTC	NONE	.	.	hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF4	.	.	ENSP00000264758	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000264758	Transcript	.	.	ENSG00000087274	243	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADDA_HUMAN	ADD1	HGNC	D6RAH3_HUMAN	.	UPI000002A35E	SNV	ADD1,synonymous_variant,p.%3D,ENST00000355842,;ADD1,synonymous_variant,p.%3D,ENST00000398125,;ADD1,synonymous_variant,p.%3D,ENST00000398123,;ADD1,synonymous_variant,p.%3D,ENST00000514940,;ADD1,synonymous_variant,p.%3D,ENST00000513328,;ADD1,synonymous_variant,p.%3D,ENST00000398129,;ADD1,synonymous_variant,p.%3D,ENST00000264758,;ADD1,synonymous_variant,p.%3D,ENST00000446856,;ADD1,synonymous_variant,p.%3D,ENST00000503455,;ADD1,upstream_gene_variant,,ENST00000536424,;ADD1,non_coding_transcript_exon_variant,,ENST00000541051,;ADD1,non_coding_transcript_exon_variant,,ENST00000536078,;ADD1,non_coding_transcript_exon_variant,,ENST00000513762,;ADD1,downstream_gene_variant,,ENST00000506157,;ADD1,downstream_gene_variant,,ENST00000503169,;	1724	90	145	SUCCESS
SLAIN2	57606	.	GRCh37	4	48385695	48385695	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	426	17	218	0	ENST00000264313.6:c.1254C>A	p.Ser418=	p.S418=	ENST00000264313	NM_020846.1	418	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47051.1	1254	MUTECT|MUSE	.	CTGTCCCGAAC	NONE	.	.	Pfam_domain:PF15301,hmmpanther:PTHR22406:SF4,hmmpanther:PTHR22406	.	.	ENSP00000264313	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000264313	Transcript	.	.	ENSG00000109171	29282	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAI2_HUMAN	SLAIN2	HGNC	.	.	UPI0000074559	SNV	SLAIN2,synonymous_variant,p.%3D,ENST00000512093,;SLAIN2,synonymous_variant,p.%3D,ENST00000264313,;SLAIN2,coding_sequence_variant,p.%3D,ENST00000510595,;SLAIN2,downstream_gene_variant,,ENST00000506375,;SLAIN2,3_prime_UTR_variant,,ENST00000505131,;	1672	218	444	SUCCESS
YTHDC1	91746	.	GRCh37	4	69179869	69179869	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs749910525	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	25	75	0	ENST00000344157.4:c.2132G>T	p.Arg711Leu	p.R711L	ENST00000344157	NM_001031732.2	711	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS33992.1	2132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCGCTCT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000339245	.	17/17	.	.	.	.	.	.	.	.	rs749910525,COSM396562	17/17	PASS	ENST00000344157	Transcript	.	.	ENSG00000083896	30626	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	0,1	YTDC1_HUMAN	YTHDC1	HGNC	J3KS01_HUMAN	.	UPI000020B86D	SNV	YTHDC1,missense_variant,p.Arg693Leu,ENST00000355665,;YTHDC1,missense_variant,p.Arg719Leu,ENST00000579690,;YTHDC1,missense_variant,p.Arg711Leu,ENST00000344157,;YTHDC1,downstream_gene_variant,,ENST00000507529,;	2468	75	112	SUCCESS
MYO10	4651	.	GRCh37	5	16694606	16694606	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs760302326	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	47	0	ENST00000513610.1:c.3674del	p.Gly1225AlafsTer22	p.G1225Afs*22	ENST00000513610	NM_012334.2	1225	gGc/gc	0	.	.	.	.	.	-	G/X	protein_coding	YES	CCDS54834.1	3674	INDELOCATOR|VARSCANI	.	GAGGAGCCCCCC	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003	.	.	ENSP00000421280	.	27/41	.	.	.	.	.	.	.	.	rs760302326,COSM1435807	27/41	PASS	ENST00000513610	Transcript	.	.	ENSG00000145555	7593	.	.	HIGH	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	MYO10_HUMAN	MYO10	HGNC	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN	.	UPI0001597062	deletion	MYO10,frameshift_variant,p.Gly1225AlafsTer22,ENST00000513610,;MYO10,frameshift_variant,p.Gly582AlafsTer22,ENST00000274203,;MYO10,frameshift_variant,p.Gly582AlafsTer22,ENST00000427430,;MYO10,frameshift_variant,p.Gly564AlafsTer22,ENST00000515803,;MYO10,frameshift_variant,p.Gly564AlafsTer22,ENST00000505695,;	4129	47	67	SUCCESS
TENM2	57451	.	GRCh37	5	167525124	167525124	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	30	70	0	ENST00000518659.1:c.1805G>C	p.Cys602Ser	p.C602S	ENST00000518659	NM_001122679.1	602	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	.	1805	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACTGTGCTA	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR11219:SF8,hmmpanther:PTHR11219,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,SMART_domains:SM00181	.	.	ENSP00000429430	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000518659	Transcript	.	.	ENSG00000145934	29943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	TEN2_HUMAN	TENM2	HGNC	G8BLJ6_HUMAN,G3CAS7_HUMAN	.	UPI0001C48FC2	SNV	TENM2,missense_variant,p.Cys602Ser,ENST00000545108,;TENM2,missense_variant,p.Cys370Ser,ENST00000520394,;TENM2,missense_variant,p.Cys481Ser,ENST00000519204,;TENM2,missense_variant,p.Cys602Ser,ENST00000518659,;TENM2,missense_variant,p.Cys435Ser,ENST00000403607,;CTB-178M22.1,intron_variant,,ENST00000517408,;	1844	70	125	SUCCESS
RP11-1277A3.2	0	.	GRCh37	5	177059360	177059360	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	70	140	0	ENST00000500444.2:n.130-4745A>T		p.*44*	ENST00000500444				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCTGAGGT	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000500444	Transcript	.	.	ENSG00000246596	.	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1277A3.2	Clone_based_vega_gene	.	.	.	SNV	RP11-1277A3.2,non_coding_transcript_exon_variant,,ENST00000515045,;RP11-1277A3.2,upstream_gene_variant,,ENST00000499314,;RP11-1277A3.2,intron_variant,,ENST00000500444,;	.	140	152	SUCCESS
GCNT4	51301	.	GRCh37	5	74325466	74325466	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	55	0	ENST00000322348.4:c.397A>C	p.Ile133Leu	p.I133L	ENST00000322348	NM_016591.2	133	Ata/Cta	0	.	.	.	.	.	G	I/L	protein_coding	YES	CCDS4026.1	397	MUTECT|MUSE	.	GGCTATTGGGA	NONE	.	.	hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF7,Pfam_domain:PF02485	.	.	ENSP00000317027	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322348	Transcript	.	.	ENSG00000176928	17973	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.36)	.	GCNT4_HUMAN	GCNT4	HGNC	.	.	UPI00000380F7	SNV	GCNT4,missense_variant,p.Ile133Leu,ENST00000322348,;	1259	55	86	SUCCESS
CHD1	1105	.	GRCh37	5	98192416	98192416	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	41	73	0	ENST00000284049.3:c.4801A>T	p.Arg1601Ter	p.R1601*	ENST00000284049	NM_001270.2	1601	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS34204.1	4801	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTGTCAC	NONE	.	.	.	.	.	ENSP00000284049	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000284049	Transcript	.	.	ENSG00000153922	1915	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD1_HUMAN	CHD1	HGNC	.	.	UPI000013DD75	SNV	CHD1,stop_gained,p.Arg1601Ter,ENST00000284049,;CHD1,3_prime_UTR_variant,,ENST00000512844,;CHD1,3_prime_UTR_variant,,ENST00000505657,;CHD1,non_coding_transcript_exon_variant,,ENST00000513064,;CHD1,non_coding_transcript_exon_variant,,ENST00000514344,;CHD1,non_coding_transcript_exon_variant,,ENST00000512392,;	4951	73	104	SUCCESS
BVES	11149	.	GRCh37	6	105564646	105564646	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	38	92	0	ENST00000314641.5:c.746T>G	p.Phe249Cys	p.F249C	ENST00000314641	NM_001199563.1	249	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS5051.1	746	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTAAAGATT	NONE	.	.	Superfamily_domains:SSF51206,Pfam_domain:PF04831,Gene3D:2.60.120.10,hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101	.	.	ENSP00000313172	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000314641	Transcript	.	.	ENSG00000112276	1152	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	POPD1_HUMAN	BVES	HGNC	.	.	UPI000006EFF7	SNV	BVES,missense_variant,p.Phe249Cys,ENST00000336775,;BVES,missense_variant,p.Phe249Cys,ENST00000446408,;BVES,missense_variant,p.Phe249Cys,ENST00000314641,;	963	92	101	SUCCESS
FRK	2444	.	GRCh37	6	116381386	116381386	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	43	1	ENST00000606080.1:c.89A>G	p.Glu30Gly	p.E30G	ENST00000606080	NM_002031.2	30	gAa/gGa	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS5103.1	89	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GATTTTCAATC	NONE	.	.	hmmpanther:PTHR24418:SF22,hmmpanther:PTHR24418	.	.	ENSP00000476145	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000606080	Transcript	.	.	ENSG00000111816	3955	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.3)	.	FRK_HUMAN	FRK	HGNC	.	.	UPI000012AC35	SNV	FRK,missense_variant,p.Glu30Gly,ENST00000606080,;	536	44	67	SUCCESS
KIAA0408	9729	.	GRCh37	6	127771319	127771319	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1274434596	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	79	1	ENST00000483725.3:c.314A>G	p.Asn105Ser	p.N105S	ENST00000483725	NM_014702.4	105	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS34531.1	314	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATTTTCT	NONE	.	.	hmmpanther:PTHR15705,Pfam_domain:PF14818	.	.	ENSP00000435150	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000483725	Transcript	.	.	ENSG00000189367	21636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.82)	.	K0408_HUMAN	KIAA0408	HGNC	.	.	UPI00001C0BD7	SNV	KIAA0408,missense_variant,p.Asn105Ser,ENST00000483725,;KIAA0408,missense_variant,p.Asn117Ser,ENST00000487331,;SOGA3,3_prime_UTR_variant,,ENST00000556132,;KIAA0408,upstream_gene_variant,,ENST00000465254,;SOGA3,downstream_gene_variant,,ENST00000368268,;SOGA3,downstream_gene_variant,,ENST00000474293,;SOGA3,3_prime_UTR_variant,,ENST00000473298,;SOGA3,3_prime_UTR_variant,,ENST00000481848,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000368281,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000472335,;SOGA3,downstream_gene_variant,,ENST00000464495,;	651	80	107	SUCCESS
CITED2	10370	.	GRCh37	6	139694788	139694788	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772009858	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	33	0	ENST00000367651.2:c.294C>A	p.Phe98Leu	p.F98L	ENST00000367651	NM_006079.4	98	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS5195.1	294	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGAACTG	NONE	.	.	hmmpanther:PTHR17045:SF7,hmmpanther:PTHR17045,Pfam_domain:PF04487	.	.	ENSP00000356623	.	2/2	.	.	.	.	.	.	.	.	rs772009858	2/2	PASS	ENST00000367651	Transcript	.	.	ENSG00000164442	1987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.03)	.	CITE2_HUMAN	CITED2	HGNC	D9ZGF1_HUMAN	.	UPI00000373B9	SNV	CITED2,missense_variant,p.Phe98Leu,ENST00000537332,;CITED2,missense_variant,p.Phe98Leu,ENST00000536159,;CITED2,missense_variant,p.Phe98Leu,ENST00000367651,;	510	33	53	SUCCESS
GRM1	2911	.	GRCh37	6	146755516	146755516	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	55	108	0	ENST00000282753.1:c.3169G>T	p.Gly1057Cys	p.G1057C	ENST00000282753	NM_001278067.1	1057	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS5209.1	3169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGTGGTCCC	NONE	.	.	.	.	.	ENSP00000354896	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361719	Transcript	.	.	ENSG00000152822	4593	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.469)	.	deleterious_low_confidence(0.04)	.	GRM1_HUMAN	GRM1	HGNC	.	.	UPI000013DCFD	SNV	GRM1,missense_variant,p.Gly1057Cys,ENST00000282753,;GRM1,missense_variant,p.Gly1057Cys,ENST00000361719,;GRM1,3_prime_UTR_variant,,ENST00000392299,;GRM1,3_prime_UTR_variant,,ENST00000507907,;GRM1,3_prime_UTR_variant,,ENST00000355289,;GRM1,3_prime_UTR_variant,,ENST00000492807,;	3639	108	121	SUCCESS
PACSIN1	29993	.	GRCh37	6	34494117	34494117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	36	34	0	ENST00000244458.2:c.35C>A	p.Pro12Gln	p.P12Q	ENST00000244458		12	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS4793.1	35	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGCCAGAGG	NONE	.	.	hmmpanther:PTHR10959:SF7,hmmpanther:PTHR10959	.	.	ENSP00000439639	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000538621	Transcript	.	.	ENSG00000124507	8570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.3)	.	PACN1_HUMAN	PACSIN1	HGNC	Q5TZC3_HUMAN,F6U236_HUMAN	.	UPI000000D983	SNV	PACSIN1,missense_variant,p.Pro12Gln,ENST00000538621,;PACSIN1,missense_variant,p.Pro12Gln,ENST00000244458,;PACSIN1,5_prime_UTR_variant,,ENST00000374043,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000486120,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000487760,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000493633,;	280	34	66	SUCCESS
DNAH8	1769	.	GRCh37	6	38743590	38743590	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	290	170	348	0	ENST00000359357.3:c.1174G>A	p.Gly392Arg	p.G392R	ENST00000359357		392	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	.	1174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAAGGAATA	NONE	.	.	Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	.	.	ENSP00000352312	.	11/91	.	.	.	.	.	.	.	.	COSM3430604,COSM3430605,COSM3430606	11/91	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	probably_damaging(1)	.	.	1,1,1	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Gly392Arg,ENST00000359357,;DNAH8,missense_variant,p.Gly597Arg,ENST00000327475,;DNAH8,missense_variant,p.Gly392Arg,ENST00000441566,;DNAH8,missense_variant,p.Gly609Arg,ENST00000449981,;	1428	348	460	SUCCESS
FILIP1	27145	.	GRCh37	6	76072567	76072567	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1394740851	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	65	0	ENST00000237172.7:c.343T>C	p.Tyr115His	p.Y115H	ENST00000237172	NM_015687.2	115	Tac/Cac	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS4984.1	343	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGTAATGAG	NONE	.	.	Pfam_domain:PF09727,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,missense_variant,p.Tyr115His,ENST00000393004,;FILIP1,missense_variant,p.Tyr16His,ENST00000370020,;FILIP1,missense_variant,p.Tyr115His,ENST00000237172,;RP11-415D17.3,non_coding_transcript_exon_variant,,ENST00000415457,;RP11-415D17.3,non_coding_transcript_exon_variant,,ENST00000591821,;RP11-415D17.3,non_coding_transcript_exon_variant,,ENST00000440220,;RP11-415D17.3,non_coding_transcript_exon_variant,,ENST00000588761,;RP11-415D17.3,intron_variant,,ENST00000419709,;RP11-415D17.3,downstream_gene_variant,,ENST00000609544,;	674	65	58	SUCCESS
MICALL2	79778	.	GRCh37	7	1484708	1484708	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs761675494	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	20	38	0	ENST00000297508.7:c.998A>T	p.Glu333Val	p.E333V	ENST00000297508	NM_182924.3	333	gAg/gTg	0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS5324.1	998	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCTCCGTG	NONE	.	.	hmmpanther:PTHR25069:SF96,hmmpanther:PTHR25069	.	.	ENSP00000297508	.	6/17	.	.	.	.	.	.	.	.	rs761675494	6/17	PASS	ENST00000297508	Transcript	.	.	ENSG00000164877	29672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.096)	.	tolerated(0.29)	.	MILK2_HUMAN	MICALL2	HGNC	.	.	UPI00000742E0	SNV	MICALL2,missense_variant,p.Glu121Val,ENST00000405088,;MICALL2,missense_variant,p.Glu333Val,ENST00000297508,;MICALL2,missense_variant,p.Glu291Val,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000482839,;MICALL2,upstream_gene_variant,,ENST00000467394,;MICALL2,downstream_gene_variant,,ENST00000490608,;MICALL2,upstream_gene_variant,,ENST00000487156,;	1174	38	52	SUCCESS
SDK1	221935	.	GRCh37	7	4150329	4150329	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1365111979	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	44	0	ENST00000404826.2:c.3359C>T	p.Thr1120Ile	p.T1120I	ENST00000404826	NM_152744.3	1120	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS34590.1	3359	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCACCCTCT	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000385899	.	23/45	.	.	.	.	.	.	.	.	.	23/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.34)	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,missense_variant,p.Thr1120Ile,ENST00000404826,;SDK1,missense_variant,p.Thr1120Ile,ENST00000389531,;	3498	44	58	SUCCESS
IGFBP3	3486	.	GRCh37	7	45954471	45954471	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	55	0	ENST00000275521.6:c.824A>G	p.Tyr275Cys	p.Y275C	ENST00000275521	NM_001013398.1	275	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS34632.1	842	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGTAGCCT	NONE	.	.	PROSITE_profiles:PS51162,hmmpanther:PTHR11551:SF3,hmmpanther:PTHR11551,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610	.	.	ENSP00000370473	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000381083	Transcript	.	.	ENSG00000146674	5472	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.944)	.	deleterious(0)	.	IBP3_HUMAN	IGFBP3	HGNC	B3KPF0_HUMAN	.	UPI00004F8E1F	SNV	IGFBP3,missense_variant,p.Tyr275Cys,ENST00000275521,;IGFBP3,missense_variant,p.Tyr281Cys,ENST00000381083,;IGFBP3,missense_variant,p.Tyr127Cys,ENST00000428530,;IGFBP3,missense_variant,p.Tyr137Cys,ENST00000417621,;IGFBP3,missense_variant,p.Tyr178Cys,ENST00000381086,;IGFBP3,downstream_gene_variant,,ENST00000448817,;IGFBP3,downstream_gene_variant,,ENST00000465642,;IGFBP3,non_coding_transcript_exon_variant,,ENST00000460209,;IGFBP3,downstream_gene_variant,,ENST00000460477,;	953	55	73	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110539064	110539064	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	5	79	0	ENST00000378402.5:c.12536C>T	p.Ser4179Phe	p.S4179F	ENST00000378402	NM_177531.4	4179	tCc/tTc	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS47911.1	12536	MUTECT|MUSE	.	AGAATCCAGAA	NONE	.	.	.	.	.	ENSP00000367655	.	77/78	.	.	.	.	.	.	.	.	.	77/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.388)	.	deleterious(0)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Ser1107Phe,ENST00000526472,;PKHD1L1,missense_variant,p.Ser4179Phe,ENST00000378402,;PKHD1L1,non_coding_transcript_exon_variant,,ENST00000534623,;	12640	79	123	SUCCESS
CSMD1	64478	.	GRCh37	8	3224660	3224660	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	59	99	1	ENST00000537824.1:c.3009G>T	p.Val1003=	p.V1003=	ENST00000537824	NM_033225.5	1003	gtG/gtT	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS55189.1	3009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAACACCGA	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000441462	.	20/70	.	.	.	.	.	.	.	.	.	20/70	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,synonymous_variant,p.%3D,ENST00000400186,;CSMD1,synonymous_variant,p.%3D,ENST00000542608,;CSMD1,synonymous_variant,p.%3D,ENST00000602723,;CSMD1,synonymous_variant,p.%3D,ENST00000335551,;CSMD1,synonymous_variant,p.%3D,ENST00000537824,;CSMD1,synonymous_variant,p.%3D,ENST00000520002,;CSMD1,synonymous_variant,p.%3D,ENST00000539096,;CSMD1,synonymous_variant,p.%3D,ENST00000602557,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	3009	100	76	SUCCESS
PCMTD1	115294	.	GRCh37	8	52733033	52733033	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs751499592	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	8	56	0	ENST00000360540.5:c.952A>C	p.Lys318Gln	p.K318Q	ENST00000360540	NM_052937.3	318	Aaa/Caa	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS6148.1	952	MUTECT|MUSE|VARSCANS	.	ATCTTTTTCCT	BUFFER|p.N321S|c.962A>G|4,BUFFER|p.E316E|c.948G>A|4	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4	.	.	ENSP00000353739	.	7/7	.	.	.	.	.	.	.	.	rs751499592	7/7	PASS	ENST00000360540	Transcript	.	.	ENSG00000168300	30483	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.067)	.	tolerated(0.38)	.	PCMD1_HUMAN	PCMTD1	HGNC	.	.	UPI0000047CC0	SNV	PCMTD1,missense_variant,p.Lys242Gln,ENST00000544451,;PCMTD1,missense_variant,p.Lys318Gln,ENST00000522514,;PCMTD1,missense_variant,p.Lys318Gln,ENST00000360540,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;	1359	56	90	SUCCESS
CRH	1392	.	GRCh37	8	67089349	67089363	+	inframe_deletion	In_Frame_Del	DEL	GCAGCAGCAGCTGCT	GCAGCAGCAGCTGCT	-	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	GCAGCAGCAGCTGCT	GCAGCAGCAGCTGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	43	0	ENST00000276571.3:c.350_364del	p.Gln117_Leu121del	p.Q117_L121del	ENST00000276571	NM_000756.2	117	cAGCAGCTGCTGCTGCct/cct	0	.	.	.	.	.	-	QQLLLP/P	protein_coding	YES	CCDS6188.1	350-364	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCGAGGCAGCAGCAGCTGCTGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15035:SF9,hmmpanther:PTHR15035	.	.	ENSP00000276571	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000276571	Transcript	1	.	ENSG00000147571	2355	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CRF_HUMAN	CRH	HGNC	.	.	UPI0000128435	deletion	CRH,inframe_deletion,p.Gln117_Leu121del,ENST00000276571,;TRIM55,downstream_gene_variant,,ENST00000276573,;TRIM55,downstream_gene_variant,,ENST00000315962,;TRIM55,downstream_gene_variant,,ENST00000353317,;TRIM55,downstream_gene_variant,,ENST00000350034,;TRIM55,downstream_gene_variant,,ENST00000517647,;	797-811	43	48	SUCCESS
PREX2	80243	.	GRCh37	8	69104690	69104690	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	9	32	0	ENST00000288368.4:c.4534T>C	p.Ser1512Pro	p.S1512P	ENST00000288368	NM_024870.2	1512	Tca/Cca	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS6201.1	4534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTCAGTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1	.	.	ENSP00000288368	.	37/40	.	.	.	.	.	.	.	.	.	37/40	PASS	ENST00000288368	Transcript	.	.	ENSG00000046889	22950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.261)	.	tolerated(0.96)	.	PREX2_HUMAN	PREX2	HGNC	Q56UR8_HUMAN	.	UPI0000375435	SNV	PREX2,missense_variant,p.Ser1512Pro,ENST00000288368,;PREX2,non_coding_transcript_exon_variant,,ENST00000522247,;PREX2,non_coding_transcript_exon_variant,,ENST00000520235,;	4811	32	53	SUCCESS
JPH1	56704	.	GRCh37	8	75227529	75227529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	17	97	0	ENST00000342232.4:c.706C>T	p.Arg236Cys	p.R236C	ENST00000342232	NM_020647.2	236	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS6217.1	706	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCGCTTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	.	.	ENSP00000344488	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	SNV	JPH1,missense_variant,p.Arg236Cys,ENST00000342232,;JPH1,3_prime_UTR_variant,,ENST00000519947,;	747	97	138	SUCCESS
ACTL7B	10880	.	GRCh37	9	111617677	111617677	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	29	0	ENST00000374667.3:c.534G>C	p.Val178=	p.V178=	ENST00000374667	NM_006686.3	178	gtG/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS6771.1	534	MUTECT|MUSE	.	GACGTCACGTG	NONE	.	.	hmmpanther:PTHR11937:SF59,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000363799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374667	Transcript	.	.	ENSG00000148156	162	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACL7B_HUMAN	ACTL7B	HGNC	.	.	UPI0000125053	SNV	ACTL7B,synonymous_variant,p.%3D,ENST00000374667,;	1563	29	33	SUCCESS
ABCA2	20	.	GRCh37	9	139910208	139910208	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1166799567	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	56	0	ENST00000341511.6:c.3433A>G	p.Ile1145Val	p.I1145V	ENST00000341511	NM_212533.2	1145	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS43909.1	3433	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGATGGCGC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116,PROSITE_profiles:PS50893	.	.	ENSP00000344155	.	23/49	.	.	.	.	.	.	.	.	.	23/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	tolerated(1)	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,missense_variant,p.Ile1144Val,ENST00000371605,;ABCA2,missense_variant,p.Ile1145Val,ENST00000341511,;ABCA2,missense_variant,p.Ile1145Val,ENST00000265662,;ABCA2,downstream_gene_variant,,ENST00000470535,;ABCA2,downstream_gene_variant,,ENST00000466707,;ABCA2,downstream_gene_variant,,ENST00000492260,;ABCA2,downstream_gene_variant,,ENST00000467624,;ABCA2,upstream_gene_variant,,ENST00000463603,;ABCA2,missense_variant,p.Ile495Val,ENST00000479446,;ABCA2,missense_variant,p.Ile1174Val,ENST00000459850,;ABCA2,missense_variant,p.Ile492Val,ENST00000488535,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,downstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000494046,;	3483	56	86	SUCCESS
CDKN2A	1029	.	GRCh37	9	21971209	21971209	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	.	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	35	0	ENST00000304494.5:c.151-2A>T		p.X51_splice	ENST00000304494	NM_000077.4	51		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56565.1	.	MUTECT|MUSE	.	TGACCTGCCAG	SITE|p.?|c.151-2A>T|3,SITE|p.?|c.151-2A>T|3,SITE|p.?|c.151-2A>T|5,SITE|p.?|c.317-2A>T|3,BUFFER|p.0?|c.1_471del471|15,BUFFER|p.M53_R58del|c.157_174del18|3,BUFFER|p.M52K|c.155T>A|4,BUFFER|p.V51A|c.152T>C|3,BUFFER|p.?|c.317-1G>T|3,BUFFER|p.?|c.151-1G>T|8,BUFFER|p.?|c.151-1G>T|3,BUFFER|p.?|c.317-1G>A|3,BUFFER|p.?|c.151-1G>A|3,BUFFER|p.?|c.151-1G>A|17,BUFFER|p.?|c.151-2A>C|6,BUFFER|p.?|c.151-4G>C|4	.	.	.	.	.	ENSP00000418915	.	.	.	.	.	.	.	.	.	.	CS014762,COSM13222,COSM12539,COSM133833,COSM608433,COSM3656627,COSM3656629,COSM608434,COSM1314730,COSM3656628	.	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	HIGH	1/3	PRIMARY	.	.	.	.	2	1,1,1,1,1,1,1,1,1,1	.	.	.	.	.	0,1,1,1,1,1,1,1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,splice_acceptor_variant,,ENST00000579755,;CDKN2A,splice_acceptor_variant,,ENST00000494262,;CDKN2A,splice_acceptor_variant,,ENST00000498628,;CDKN2A,splice_acceptor_variant,,ENST00000530628,;CDKN2A,splice_acceptor_variant,,ENST00000446177,;CDKN2A,splice_acceptor_variant,,ENST00000304494,;CDKN2A,splice_acceptor_variant,,ENST00000361570,;CDKN2A,splice_acceptor_variant,,ENST00000498124,;CDKN2A,splice_acceptor_variant,,ENST00000479692,;CDKN2A,splice_acceptor_variant,,ENST00000579122,;CDKN2A,splice_acceptor_variant,,ENST00000497750,;CDKN2A,5_prime_UTR_variant,,ENST00000578845,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,splice_acceptor_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	.	35	43	SUCCESS
AGTPBP1	23287	.	GRCh37	9	88162138	88162138	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	39	78	0	ENST00000357081.3:c.3567A>G	p.Ala1189=	p.A1189=	ENST00000357081	NM_001286715.1	1189	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS6672.1	3447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTGCACT	NONE	.	.	hmmpanther:PTHR12756:SF2,hmmpanther:PTHR12756	.	.	ENSP00000365251	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000376083	Transcript	.	.	ENSG00000135049	17258	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBPC1_HUMAN	AGTPBP1	HGNC	.	.	UPI000013CF66	SNV	AGTPBP1,missense_variant,p.Gln638Arg,ENST00000432218,;AGTPBP1,synonymous_variant,p.%3D,ENST00000357081,;AGTPBP1,synonymous_variant,p.%3D,ENST00000376083,;AGTPBP1,synonymous_variant,p.%3D,ENST00000376109,;AGTPBP1,3_prime_UTR_variant,,ENST00000337006,;	3524	78	92	SUCCESS
MAP7D3	79649	.	GRCh37	X	135318419	135318419	+	synonymous_variant	Silent	SNP	G	G	A	rs778064203	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	54	0	ENST00000316077.9:c.720C>T	p.Ala240=	p.A240=	ENST00000316077	NM_024597.3	240	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS44004.1	720	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCGGCTTG	NONE	byFrequency	.	hmmpanther:PTHR15073:SF5,hmmpanther:PTHR15073	.	.	ENSP00000318086	.	7/19	.	.	.	.	.	.	.	.	rs778064203	7/19	PASS	ENST00000316077	Transcript	.	.	ENSG00000129680	25742	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MA7D3_HUMAN	MAP7D3	HGNC	.	.	UPI00001C207C	SNV	MAP7D3,synonymous_variant,p.%3D,ENST00000370663,;MAP7D3,synonymous_variant,p.%3D,ENST00000370661,;MAP7D3,synonymous_variant,p.%3D,ENST00000370660,;MAP7D3,synonymous_variant,p.%3D,ENST00000316077,;	941	54	53	SUCCESS
ATP2B3	492	.	GRCh37	X	152815622	152815622	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	73	62	0	ENST00000263519.4:c.1701A>C	p.Glu567Asp	p.E567D	ENST00000263519	NM_001001344.2	567	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS35440.1	1701	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGAAGACAA	NONE	.	.	Superfamily_domains:SSF81660,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,hmmpanther:PTHR24093:SF265,hmmpanther:PTHR24093	.	.	ENSP00000263519	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000263519	Transcript	.	.	ENSG00000067842	816	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	AT2B3_HUMAN	ATP2B3	HGNC	A1L3B5_HUMAN	.	UPI00001AE881	SNV	ATP2B3,missense_variant,p.Glu553Asp,ENST00000393842,;ATP2B3,missense_variant,p.Glu567Asp,ENST00000359149,;ATP2B3,missense_variant,p.Glu567Asp,ENST00000263519,;ATP2B3,missense_variant,p.Glu553Asp,ENST00000370181,;ATP2B3,missense_variant,p.Glu553Asp,ENST00000370186,;ATP2B3,missense_variant,p.Glu567Asp,ENST00000349466,;	1827	62	83	SUCCESS
DMD	1756	.	GRCh37	X	32429887	32429887	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	34	0	ENST00000357033.4:c.4215A>G	p.Gln1405=	p.Q1405=	ENST00000357033	NM_004007.2	1405	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS14233.1	4215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCATTTGAGC	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	.	.	ENSP00000354923	.	30/79	.	.	.	.	.	.	.	.	.	30/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,synonymous_variant,p.%3D,ENST00000357033,;DMD,synonymous_variant,p.%3D,ENST00000378677,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000488902,;	4422	34	66	SUCCESS
OPHN1	4983	.	GRCh37	X	67430107	67430107	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	37	0	ENST00000355520.5:c.720C>A	p.Ser240=	p.S240=	ENST00000355520	NM_002547.2	240	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14388.1	720	MUTECT|MUSE	.	GTACTGGAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12552:SF2,hmmpanther:PTHR12552,Superfamily_domains:SSF103657	.	.	ENSP00000347710	.	9/25	.	.	.	.	.	.	.	.	.	9/25	PASS	ENST00000355520	Transcript	.	.	ENSG00000079482	8148	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OPHN1_HUMAN	OPHN1	HGNC	Q7Z2H1_HUMAN	.	UPI000003319E	SNV	OPHN1,synonymous_variant,p.%3D,ENST00000355520,;OPHN1,synonymous_variant,p.%3D,ENST00000540071,;OPHN1,non_coding_transcript_exon_variant,,ENST00000467444,;	1362	37	43	SUCCESS
LHPP	64077	.	GRCh37	10	126150467	126150467	+	synonymous_variant	Silent	SNP	C	C	T	rs1237658988	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	29	47	0	ENST00000368842.5:c.36C>T	p.Arg12=	p.R12=	ENST00000368842	NM_022126.3	12	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS7640.1	36	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCGCGGGGT	NONE	.	.	hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF29,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01458,Superfamily_domains:SSF56784	.	.	ENSP00000357835	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000368842	Transcript	.	.	ENSG00000107902	30042	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHPP_HUMAN	LHPP	HGNC	.	.	UPI00001402EE	SNV	LHPP,synonymous_variant,p.%3D,ENST00000392757,;LHPP,synonymous_variant,p.%3D,ENST00000368839,;LHPP,synonymous_variant,p.%3D,ENST00000368842,;	64	47	51	SUCCESS
NODAL	4838	.	GRCh37	10	72195099	72195099	+	synonymous_variant	Silent	SNP	G	G	A	rs1564667124	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	38	97	0	ENST00000287139.3:c.834C>T	p.Gly278=	p.G278=	ENST00000287139	NM_018055.4	278	ggC/ggT	0	.	.	.	.	.	A	A/T	protein_coding	YES	.	46	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCGCCCTC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000411125	.	1/1	.	.	.	.	.	.	.	.	COSM2160423	1/1	PASS	ENST00000420338	Transcript	.	.	ENSG00000197604	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.691)	.	.	1	.	AC022532.1	Clone_based_ensembl_gene	F8WBX8_HUMAN	.	UPI0000140670	SNV	AC022532.1,missense_variant,p.Ala16Thr,ENST00000420338,;NODAL,synonymous_variant,p.%3D,ENST00000287139,;NODAL,synonymous_variant,p.%3D,ENST00000414871,;	515	97	85	SUCCESS
OR6X1	390260	.	GRCh37	11	123625085	123625085	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	114	0	ENST00000327930.2:c.142T>C	p.Trp48Arg	p.W48R	ENST00000327930	NM_001005188.1	48	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS31695.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCACACAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000333724	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327930	Transcript	.	.	ENSG00000221931	14737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.19)	.	OR6X1_HUMAN	OR6X1	HGNC	.	.	UPI000004B1D5	SNV	OR6X1,missense_variant,p.Trp48Arg,ENST00000327930,;	169	114	122	SUCCESS
ARHGAP32	9743	.	GRCh37	11	128934785	128934785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	123	409	1	ENST00000310343.9:c.671C>A	p.Ala224Asp	p.A224D	ENST00000310343	NM_001142685.1	224	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS44769.1	671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGATAGCTGAA	NONE	.	.	hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9,Superfamily_domains:SSF64268	.	.	ENSP00000310561	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000310343	Transcript	.	.	ENSG00000134909	17399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.491)	.	deleterious(0.04)	.	RHG32_HUMAN	ARHGAP32	HGNC	I7H0B0_HUMAN	.	UPI000159C61F	SNV	ARHGAP32,missense_variant,p.Ala150Asp,ENST00000524655,;ARHGAP32,missense_variant,p.Ala224Asp,ENST00000310343,;ARHGAP32,downstream_gene_variant,,ENST00000525234,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;	671	411	447	SUCCESS
OR5M10	390167	.	GRCh37	11	56344592	56344592	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	33	294	0	ENST00000526812.2:c.606T>C	p.Val202=	p.V202=	ENST00000526812	NM_001004741.1	202	gtT/gtC	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS53630.1	606	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCAACTAC	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,PROSITE_profiles:PS50262	.	.	ENSP00000436004	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526812	Transcript	.	.	ENSG00000254834	15290	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR5MA_HUMAN	OR5M10	HGNC	.	.	UPI0000041BEE	SNV	OR5M10,synonymous_variant,p.%3D,ENST00000526812,;	672	294	235	SUCCESS
AHNAK	79026	.	GRCh37	11	62298786	62298786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	32	128	0	ENST00000378024.4:c.3103G>T	p.Asp1035Tyr	p.D1035Y	ENST00000378024	NM_001620.2	1035	Gat/Tat	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS31584.1	3103	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATCTACTT	NONE	.	.	hmmpanther:PTHR23348:SF40,hmmpanther:PTHR23348	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,missense_variant,p.Asp1035Tyr,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000531324,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000528508,;	3378	128	94	SUCCESS
PPP1CA	5499	.	GRCh37	11	67166283	67166283	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	48	0	ENST00000376745.4:c.792G>A	p.Val264=	p.V264=	ENST00000376745	NM_001008709.1	264	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS31618.1	825	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTCACCAG	NONE	.	.	hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114	.	.	ENSP00000326031	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000312989	Transcript	.	.	ENSG00000172531	9281	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP1A_HUMAN	PPP1CA	HGNC	C4TNW6_HUMAN,C4TNW5_HUMAN,C0STL0_HUMAN	.	UPI0000070A42	SNV	PPP1CA,synonymous_variant,p.%3D,ENST00000358239,;PPP1CA,synonymous_variant,p.%3D,ENST00000376745,;PPP1CA,synonymous_variant,p.%3D,ENST00000527663,;PPP1CA,synonymous_variant,p.%3D,ENST00000312989,;PPP1CA,downstream_gene_variant,,ENST00000542876,;RAD9A,downstream_gene_variant,,ENST00000544620,;PPP1CA,downstream_gene_variant,,ENST00000546202,;RAD9A,downstream_gene_variant,,ENST00000307980,;RNU6-1238P,upstream_gene_variant,,ENST00000517215,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532279,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532446,;PPP1CA,downstream_gene_variant,,ENST00000537694,;RAD9A,downstream_gene_variant,,ENST00000529100,;RAD9A,downstream_gene_variant,,ENST00000535644,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,downstream_gene_variant,,ENST00000529724,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000526510,;RAD9A,downstream_gene_variant,,ENST00000530934,;RAD9A,downstream_gene_variant,,ENST00000538013,;RAD9A,downstream_gene_variant,,ENST00000542139,;	836	48	45	SUCCESS
PITPNM1	9600	.	GRCh37	11	67265462	67265462	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	39	0	ENST00000356404.3:c.1708C>G	p.Leu570Val	p.L570V	ENST00000356404	NM_001130848.1	570	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS31620.1	1708	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAGGATGC	NONE	.	.	hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40	.	.	ENSP00000348772	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000356404	Transcript	.	.	ENSG00000110697	9003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	deleterious(0)	.	PITM1_HUMAN	PITPNM1	HGNC	E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN	.	UPI00001FAD31	SNV	PITPNM1,missense_variant,p.Leu570Val,ENST00000436757,;PITPNM1,missense_variant,p.Leu570Val,ENST00000356404,;PITPNM1,missense_variant,p.Leu570Val,ENST00000534749,;PITPNM1,downstream_gene_variant,,ENST00000532703,;PITPNM1,downstream_gene_variant,,ENST00000524901,;PITPNM1,downstream_gene_variant,,ENST00000528559,;PITPNM1,downstream_gene_variant,,ENST00000533391,;PITPNM1,upstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000525521,;PITPNM1,upstream_gene_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000527527,;PITPNM1,downstream_gene_variant,,ENST00000529203,;PITPNM1,downstream_gene_variant,,ENST00000530381,;PITPNM1,upstream_gene_variant,,ENST00000526602,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;	1934	39	33	SUCCESS
FAT3	120114	.	GRCh37	11	92564913	92564913	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs139337740	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	63	0	ENST00000298047.6:c.9607A>T	p.Ile3203Phe	p.I3203F	ENST00000298047		3203	Atc/Ttc	0	G:0.0002	G:0	.	G:0.0014	.	T	I/F	protein_coding	YES	.	9607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACATCAGC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,PROSITE_profiles:PS50268	G:0	G:0.0006	ENSP00000298047	G:0.002	13/27	.	.	.	.	.	.	.	.	rs139337740	13/27	PASS	ENST00000298047	Transcript	.	G:0.0020	ENSG00000165323	23112	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.551)	G:0.0072	.	.	FAT3_HUMAN	FAT3	HGNC	E9PQ73_HUMAN	.	UPI000050B6C6	SNV	FAT3,missense_variant,p.Ile3203Phe,ENST00000298047,;FAT3,missense_variant,p.Ile3203Phe,ENST00000409404,;FAT3,missense_variant,p.Ile3053Phe,ENST00000525166,;	9624	63	58	SUCCESS
CCDC60	160777	.	GRCh37	12	119909929	119909929	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs778425978	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	16	106	0	ENST00000327554.2:c.301G>A	p.Glu101Lys	p.E101K	ENST00000327554	NM_178499.3	101	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9190.1	301	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGAAAAG	SITE|p.E101K|c.301G>A|4	byFrequency	.	.	.	.	ENSP00000333374	.	3/14	.	.	.	.	.	.	.	.	rs778425978,COSM226727	3/14	PASS	ENST00000327554	Transcript	.	.	ENSG00000183273	28610	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0)	.	tolerated(1)	0,1	CCD60_HUMAN	CCDC60	HGNC	F5H5H4_HUMAN	.	UPI000019906E	SNV	CCDC60,missense_variant,p.Glu101Lys,ENST00000327554,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;CCDC60,non_coding_transcript_exon_variant,,ENST00000546345,;	766	106	125	SUCCESS
HCAR3	8843	.	GRCh37	12	123201235	123201235	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	7	82	0	ENST00000528880.2:c.50A>T	p.Asn17Ile	p.N17I	ENST00000528880	NM_006018.2	17	aAc/aTc	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS53842.1	50	MUTECT|MUSE|VARSCANS	.	AGCAGTTCTTC	NONE	.	.	hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0	.	.	ENSP00000436714	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000528880	Transcript	.	.	ENSG00000255398	16824	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.644)	.	deleterious(0)	.	HCAR3_HUMAN	HCAR3	HGNC	.	.	UPI00001AFD35	SNV	HCAR3,missense_variant,p.Asn17Ile,ENST00000528880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,downstream_gene_variant,,ENST00000543611,;RP11-324E6.6,downstream_gene_variant,,ENST00000545293,;	205	82	82	SUCCESS
DCP1B	196513	.	GRCh37	12	2062188	2062188	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	51	0	ENST00000280665.6:c.918A>G	p.Pro306=	p.P306=	ENST00000280665	NM_152640.3	306	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS31727.1	918	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAATGGGTG	NONE	.	.	hmmpanther:PTHR16290:SF1,hmmpanther:PTHR16290	.	.	ENSP00000280665	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000280665	Transcript	.	.	ENSG00000151065	24451	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCP1B_HUMAN	DCP1B	HGNC	.	.	UPI000013DC30	SNV	DCP1B,synonymous_variant,p.%3D,ENST00000540622,;DCP1B,synonymous_variant,p.%3D,ENST00000280665,;DCP1B,synonymous_variant,p.%3D,ENST00000397173,;DCP1B,non_coding_transcript_exon_variant,,ENST00000536665,;DCP1B,non_coding_transcript_exon_variant,,ENST00000541700,;DCP1B,3_prime_UTR_variant,,ENST00000543381,;	998	51	46	SUCCESS
ATF7	11016	.	GRCh37	12	53911264	53911264	+	intron_variant	Intron	SNP	T	T	G	rs561218030	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	17	0	ENST00000548446.2:c.1268-126A>C		p.*423*	ENST00000548446				0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS44906.1	.	RADIA|MUTECT|MUSE	.	TTTTTTGGGGA	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000399465	G:0	.	.	.	.	.	.	.	.	.	rs561218030	.	PASS	ENST00000420353	Transcript	.	G:0.0024	ENSG00000170653	792	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	3	.	.	.	.	G:0.0112	.	.	ATF7_HUMAN	ATF7	HGNC	K7EKZ7_HUMAN,F8VWG7_HUMAN	.	UPI0000161877	SNV	ATF7,intron_variant,,ENST00000456903,;ATF7,intron_variant,,ENST00000328463,;ATF7,intron_variant,,ENST00000548446,;ATF7,intron_variant,,ENST00000420353,;RP11-793H13.10,intron_variant,,ENST00000591834,;ATF7,intron_variant,,ENST00000415113,;RP11-793H13.3,non_coding_transcript_exon_variant,,ENST00000548347,;ATF7,intron_variant,,ENST00000546661,;ATF7,intron_variant,,ENST00000551087,;	.	17	11	SUCCESS
OTOGL	283310	.	GRCh37	12	80752454	80752454	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	39	0	ENST00000547103.1:c.6062G>A	p.Cys2021Tyr	p.C2021Y	ENST00000547103		2021	tGt/tAt	0	.	.	.	.	.	A	C/Y	protein_coding	YES	.	6098	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTATGTGAAC	NONE	.	.	hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339	.	.	ENSP00000400895	.	50/58	.	.	.	.	.	.	.	.	.	50/58	PASS	ENST00000458043	Transcript	.	.	ENSG00000165899	26901	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	.	OTOGL	HGNC	E2QRK2_HUMAN	.	UPI0001D089C5	SNV	OTOGL,missense_variant,p.Cys52Tyr,ENST00000546620,;OTOGL,missense_variant,p.Cys2033Tyr,ENST00000458043,;OTOGL,missense_variant,p.Cys50Tyr,ENST00000550182,;OTOGL,missense_variant,p.Cys476Tyr,ENST00000298820,;OTOGL,missense_variant,p.Cys2021Tyr,ENST00000547103,;OTOGL,missense_variant,p.Cys85Tyr,ENST00000551340,;	6104	39	44	SUCCESS
FGD6	55785	.	GRCh37	12	95500747	95500747	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	23	163	0	ENST00000343958.4:c.3400T>G	p.Ser1134Ala	p.S1134A	ENST00000343958	NM_018351.3	1134	Tca/Gca	0	.	.	.	.	.	C	S/A	protein_coding	YES	CCDS31878.1	3400	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGAGAGCA	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000344446	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000343958	Transcript	.	.	ENSG00000180263	21740	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.444)	.	tolerated(0.18)	.	FGD6_HUMAN	FGD6	HGNC	F8VY01_HUMAN	.	UPI00001FB2F4	SNV	FGD6,missense_variant,p.Ser130Ala,ENST00000551521,;FGD6,missense_variant,p.Ser1134Ala,ENST00000549499,;FGD6,missense_variant,p.Ser1134Ala,ENST00000546711,;FGD6,missense_variant,p.Ser1134Ala,ENST00000343958,;FGD6,3_prime_UTR_variant,,ENST00000451107,;	3624	163	159	SUCCESS
GRK1	6011	.	GRCh37	13	114324085	114324085	+	synonymous_variant	Silent	SNP	C	C	A	rs370686602	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	47	0	ENST00000335678.6:c.783C>A	p.Ala261=	p.A261=	ENST00000335678	NM_002929.2	261	gcC/gcA	0	T:0	.	.	.	.	A	A	protein_coding	YES	.	783	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCCGACCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF11,hmmpanther:PTHR24355,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	T:0.0001	ENSP00000334876	.	2/7	.	.	.	.	.	.	.	.	rs370686602	2/7	PASS	ENST00000335678	Transcript	.	.	ENSG00000185974	10013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RK_HUMAN	GRK1	HGNC	Q71VB6_HUMAN	.	UPI0000133B08	SNV	GRK1,synonymous_variant,p.%3D,ENST00000335678,;	1015	47	57	SUCCESS
PARP4	143	.	GRCh37	13	25021314	25021314	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	35	176	0	ENST00000381989.3:c.3125A>G	p.Gln1042Arg	p.Q1042R	ENST00000381989	NM_006437.3	1042	cAa/cGa	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS9307.1	3125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTGGTCT	BUFFER|p.I1039T|c.3116T>C|7	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF7,hmmpanther:PTHR10338,Superfamily_domains:SSF53300	.	.	ENSP00000371419	.	26/34	.	.	.	.	.	.	.	.	.	26/34	PASS	ENST00000381989	Transcript	.	.	ENSG00000102699	271	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	PARP4_HUMAN	PARP4	HGNC	.	.	UPI000013C76E	SNV	PARP4,missense_variant,p.Gln1042Arg,ENST00000381989,;PARP4,downstream_gene_variant,,ENST00000484989,;TPTE2P6,intron_variant,,ENST00000445572,;	3231	176	118	SUCCESS
FRY	10129	.	GRCh37	13	32759191	32759191	+	synonymous_variant	Silent	SNP	C	C	T	rs1488881147	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	134	0	ENST00000380250.3:c.3225C>T	p.Leu1075=	p.L1075=	ENST00000380250	NM_023037.2	1075	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS41875.1	3225	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTCCTAGA	NONE	.	.	hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	.	.	ENSP00000369600	.	26/61	.	.	.	.	.	.	.	.	.	26/61	PASS	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,synonymous_variant,p.%3D,ENST00000380250,;	3721	134	90	SUCCESS
IPO4	79711	.	GRCh37	14	24649686	24649686	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	48	0	ENST00000354464.6:c.3208A>C	p.Lys1070Gln	p.K1070Q	ENST00000354464	NM_024658.3	1070	Aag/Cag	0	.	.	.	.	.	G	K/Q	protein_coding	YES	CCDS9616.1	3208	RADIA|MUTECT|MUSE	.	AGCCTTGTCAA	NONE	.	.	hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6	.	.	ENSP00000346453	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000354464	Transcript	.	.	ENSG00000196497	19426	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.61)	.	IPO4_HUMAN	IPO4	HGNC	Q6I9Y8_HUMAN,D3DS63_HUMAN	.	UPI000013CCB3	SNV	IPO4,missense_variant,p.Lys301Gln,ENST00000558233,;IPO4,missense_variant,p.Lys1070Gln,ENST00000354464,;IPO4,missense_variant,p.Lys536Gln,ENST00000561462,;REC8,downstream_gene_variant,,ENST00000560501,;REC8,downstream_gene_variant,,ENST00000311457,;REC8,downstream_gene_variant,,ENST00000559919,;REC8,downstream_gene_variant,,ENST00000559939,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000560155,;IPO4,3_prime_UTR_variant,,ENST00000558046,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;REC8,downstream_gene_variant,,ENST00000559797,;REC8,downstream_gene_variant,,ENST00000557979,;IPO4,downstream_gene_variant,,ENST00000561379,;REC8,downstream_gene_variant,,ENST00000558782,;IPO4,downstream_gene_variant,,ENST00000560935,;REC8,downstream_gene_variant,,ENST00000558191,;REC8,downstream_gene_variant,,ENST00000558697,;REC8,downstream_gene_variant,,ENST00000560823,;REC8,downstream_gene_variant,,ENST00000558381,;	3385	48	52	SUCCESS
NKX2-1	7080	.	GRCh37	14	36988348	36988348	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs546402304	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	43	0	ENST00000354822.5:c.305C>A	p.Ala102Glu	p.A102E	ENST00000354822	NM_001079668.2	102	gCg/gAg	0	.	A:0	.	A:0.0014	.	T	A/E	protein_coding	YES	CCDS41945.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCCGTC	NONE	by1000G	.	hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF33	A:0	.	ENSP00000346879	A:0	2/3	.	.	.	.	.	.	.	.	rs546402304	2/3	PASS	ENST00000354822	Transcript	.	A:0.0002	ENSG00000136352	11825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	A:0	tolerated(0.26)	.	NKX21_HUMAN	NKX2-1	HGNC	Q13306_HUMAN	.	UPI000007328C	SNV	NKX2-1,missense_variant,p.Ala102Glu,ENST00000354822,;NKX2-1,missense_variant,p.Ala72Glu,ENST00000522719,;NKX2-1,missense_variant,p.Ala72Glu,ENST00000518149,;NKX2-1,missense_variant,p.Ala72Glu,ENST00000498187,;NKX2-1,downstream_gene_variant,,ENST00000546983,;NKX2-1-AS1,upstream_gene_variant,,ENST00000521292,;RP11-896J10.3,intron_variant,,ENST00000521945,;	404	43	52	SUCCESS
PSEN1	5663	.	GRCh37	14	73637640	73637640	+	synonymous_variant	Silent	SNP	T	T	C	rs1478565878	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	56	131	0	ENST00000324501.5:c.223T>C	p.Leu75=	p.L75=	ENST00000324501	NM_000021.3	75	Ttg/Ctg	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS9812.1	223	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATTGAAA	NONE	.	.	Pfam_domain:PF01080,hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF7	.	.	ENSP00000326366	.	4/12	.	.	.	.	.	.	.	.	.	4/12	PASS	ENST00000324501	Transcript	.	.	ENSG00000080815	9508	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSN1_HUMAN	PSEN1	HGNC	G3V4P4_HUMAN,G3V4M0_HUMAN,G3V2G7_HUMAN,E7ES96_HUMAN	.	UPI000003F05F	SNV	PSEN1,synonymous_variant,p.%3D,ENST00000394164,;PSEN1,synonymous_variant,p.%3D,ENST00000553599,;PSEN1,synonymous_variant,p.%3D,ENST00000556533,;PSEN1,synonymous_variant,p.%3D,ENST00000344094,;PSEN1,synonymous_variant,p.%3D,ENST00000557511,;PSEN1,synonymous_variant,p.%3D,ENST00000324501,;PSEN1,synonymous_variant,p.%3D,ENST00000556951,;PSEN1,synonymous_variant,p.%3D,ENST00000555254,;PSEN1,synonymous_variant,p.%3D,ENST00000557356,;PSEN1,synonymous_variant,p.%3D,ENST00000553719,;PSEN1,synonymous_variant,p.%3D,ENST00000560005,;PSEN1,synonymous_variant,p.%3D,ENST00000261970,;PSEN1,synonymous_variant,p.%3D,ENST00000554131,;PSEN1,synonymous_variant,p.%3D,ENST00000394157,;PSEN1,synonymous_variant,p.%3D,ENST00000557293,;PSEN1,synonymous_variant,p.%3D,ENST00000357710,;PSEN1,5_prime_UTR_variant,,ENST00000406768,;PSEN1,downstream_gene_variant,,ENST00000556066,;PSEN1,downstream_gene_variant,,ENST00000557037,;PSEN1,downstream_gene_variant,,ENST00000556864,;PSEN1,downstream_gene_variant,,ENST00000553447,;PSEN1,synonymous_variant,p.%3D,ENST00000553855,;PSEN1,synonymous_variant,p.%3D,ENST00000555386,;PSEN1,3_prime_UTR_variant,,ENST00000559361,;	495	131	167	SUCCESS
GPR65	8477	.	GRCh37	14	88477913	88477913	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	40	118	0	ENST00000267549.3:c.722C>A	p.Pro241His	p.P241H	ENST00000267549	NM_003608.3	241	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS9879.1	722	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCCCTTTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF36,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000267549	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000267549	Transcript	.	.	ENSG00000140030	4517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PSYR_HUMAN	GPR65	HGNC	B5B0C2_HUMAN	.	UPI000007422C	SNV	GPR65,missense_variant,p.Pro241His,ENST00000267549,;RP11-300J18.2,intron_variant,,ENST00000554433,;	1280	118	157	SUCCESS
CCDC88C	440193	.	GRCh37	14	91884096	91884096	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs534291168	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	22	25	0	ENST00000389857.6:c.-62C>A		p.*21*	ENST00000389857	NM_001080414.3			0	.	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS45151.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCGGCACA	NONE	by1000G	.	.	A:0	.	ENSP00000374507	A:0	1/30	.	.	.	.	.	.	.	.	rs534291168	1/30	PASS	ENST00000389857	Transcript	1	A:0.0002	ENSG00000015133	19967	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	DAPLE_HUMAN	CCDC88C	HGNC	B4DZB8_HUMAN	.	UPI00006C1440	SNV	CCDC88C,5_prime_UTR_variant,,ENST00000553403,;CCDC88C,5_prime_UTR_variant,,ENST00000389857,;CCDC88C,upstream_gene_variant,,ENST00000389856,;RP11-895M11.3,upstream_gene_variant,,ENST00000557524,;CCDC88C,upstream_gene_variant,,ENST00000554165,;CCDC88C,upstream_gene_variant,,ENST00000556767,;CCDC88C,upstream_gene_variant,,ENST00000554872,;RP11-895M11.2,upstream_gene_variant,,ENST00000557756,;	26	25	44	SUCCESS
GABRA5	2558	.	GRCh37	15	27159962	27159962	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	63	0	ENST00000335625.5:c.510T>G	p.Ser170=	p.S170=	ENST00000335625	NM_000810.3	170	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS45194.1	510	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTGCAGA	NONE	.	.	hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932	.	.	ENSP00000335592	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000335625	Transcript	.	.	ENSG00000186297	4079	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA5_HUMAN	GABRA5	HGNC	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN	.	UPI000002D731	SNV	GABRA5,synonymous_variant,p.%3D,ENST00000355395,;GABRA5,synonymous_variant,p.%3D,ENST00000555182,;GABRA5,synonymous_variant,p.%3D,ENST00000400081,;GABRA5,synonymous_variant,p.%3D,ENST00000335625,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000554599,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;	1398	63	46	SUCCESS
MEIS2	4212	.	GRCh37	15	37329105	37329105	+	synonymous_variant	Silent	SNP	C	C	T	rs183075611	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	58	0	ENST00000561208.1:c.810G>A	p.Pro270=	p.P270=	ENST00000561208		270	ccG/ccA	0	.	T:0	.	T:0.0072	.	T	P	protein_coding	YES	CCDS10044.1	810	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCCGGATC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850	T:0	.	ENSP00000453793	T:0	8/12	.	.	.	.	.	.	.	.	rs183075611	8/12	PASS	ENST00000561208	Transcript	1	T:0.0010	ENSG00000134138	7001	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,synonymous_variant,p.%3D,ENST00000424352,;MEIS2,synonymous_variant,p.%3D,ENST00000219869,;MEIS2,synonymous_variant,p.%3D,ENST00000559561,;MEIS2,synonymous_variant,p.%3D,ENST00000397620,;MEIS2,synonymous_variant,p.%3D,ENST00000607277,;MEIS2,synonymous_variant,p.%3D,ENST00000444725,;MEIS2,synonymous_variant,p.%3D,ENST00000397624,;MEIS2,synonymous_variant,p.%3D,ENST00000382766,;MEIS2,synonymous_variant,p.%3D,ENST00000559085,;MEIS2,synonymous_variant,p.%3D,ENST00000557796,;MEIS2,synonymous_variant,p.%3D,ENST00000561208,;MEIS2,synonymous_variant,p.%3D,ENST00000338564,;MEIS2,synonymous_variant,p.%3D,ENST00000340545,;MEIS2,synonymous_variant,p.%3D,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561163,;	1229	58	44	SUCCESS
PATL2	197135	.	GRCh37	15	44961589	44961589	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1011539285	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	88	0	ENST00000434130.1:c.953T>C	p.Ile318Thr	p.I318T	ENST00000434130	NM_001145112.1	318	aTa/aCa	0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS45253.1	953	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCTATTTCT	NONE	.	.	hmmpanther:PTHR21551:SF3,hmmpanther:PTHR21551,Pfam_domain:PF09770	.	.	ENSP00000416673	.	11/16	.	.	.	.	.	.	.	.	.	11/16	PASS	ENST00000434130	Transcript	.	.	ENSG00000229474	33630	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.861)	.	deleterious(0.03)	.	PATL2_HUMAN	PATL2	HGNC	H0YMQ2_HUMAN	.	UPI00006C1508	SNV	PATL2,missense_variant,p.Ile129Thr,ENST00000560780,;PATL2,missense_variant,p.Ile318Thr,ENST00000560775,;PATL2,missense_variant,p.Ile318Thr,ENST00000434130,;PATL2,upstream_gene_variant,,ENST00000558809,;PATL2,downstream_gene_variant,,ENST00000560110,;PATL2,downstream_gene_variant,,ENST00000558481,;PATL2,upstream_gene_variant,,ENST00000561082,;PATL2,upstream_gene_variant,,ENST00000558159,;	1051	88	57	SUCCESS
APOBR	55911	.	GRCh37	16	28507458	28507458	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866767366	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	29	0	ENST00000431282.1:c.1069G>A	p.Ala357Thr	p.A357T	ENST00000431282		357	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS58442.1	1096	SOMATICSNIPER|VARSCANS	.	GGACAGCCTCA	SITE|p.A357T|c.1069G>A|3,BUFFER|p.G355W|c.1063G>T|5	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15964,hmmpanther:PTHR15964:SF0	.	.	ENSP00000457539	.	2/4	.	.	.	.	.	.	.	.	COSM3746404	2/4	PASS	ENST00000564831	Transcript	.	.	ENSG00000184730	24087	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	possibly_damaging(0.682)	.	tolerated(0.95)	1	APOBR_HUMAN	APOBR	HGNC	.	.	UPI000013EFFC	SNV	APOBR,missense_variant,p.Ala357Thr,ENST00000431282,;APOBR,missense_variant,p.Ala357Thr,ENST00000328423,;APOBR,missense_variant,p.Ala366Thr,ENST00000564831,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000354630,;CLN3,upstream_gene_variant,,ENST00000357857,;IL27,downstream_gene_variant,,ENST00000356897,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000357076,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000359984,;CLN3,upstream_gene_variant,,ENST00000360019,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000535392,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000568497,;	1129	30	25	SUCCESS
ADCY9	115	.	GRCh37	16	4015980	4015980	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs370863551	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	69	0	ENST00000294016.3:c.3858G>T	p.Gln1286His	p.Q1286H	ENST00000294016	NM_001116.3	1286	caG/caT	0	T:0	.	.	.	.	A	Q/H	protein_coding	YES	CCDS32382.1	3858	RADIA|MUTECT|MUSE|VARSCANS	.	ACATACTGGAC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000294016	.	11/11	.	.	.	.	.	.	.	.	rs370863551	11/11	PASS	ENST00000294016	Transcript	.	.	ENSG00000162104	240	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.05)	.	ADCY9_HUMAN	ADCY9	HGNC	.	.	UPI000012887F	SNV	ADCY9,missense_variant,p.Gln1286His,ENST00000294016,;ADCY9,intron_variant,,ENST00000576936,;	4397	69	58	SUCCESS
AKTIP	64400	.	GRCh37	16	53529086	53529086	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	207	30	163	0	ENST00000394657.7:c.314-1G>A		p.X105_splice	ENST00000394657	NM_022476.2	105		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10749.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCACACTGTAG	NONE	.	.	.	.	.	ENSP00000378152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394657	Transcript	.	.	ENSG00000166971	16710	.	.	HIGH	4/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKTIP_HUMAN	AKTIP	HGNC	Q659E0_HUMAN,H3BVH0_HUMAN,H3BSX7_HUMAN,H3BRV2_HUMAN,H3BNB8_HUMAN	.	UPI0000073A64	SNV	AKTIP,splice_acceptor_variant,,ENST00000300245,;AKTIP,splice_acceptor_variant,,ENST00000568596,;AKTIP,splice_acceptor_variant,,ENST00000570004,;AKTIP,splice_acceptor_variant,,ENST00000563928,;AKTIP,splice_acceptor_variant,,ENST00000565408,;AKTIP,splice_acceptor_variant,,ENST00000568022,;AKTIP,splice_acceptor_variant,,ENST00000394657,;RBL2,downstream_gene_variant,,ENST00000262133,;RBL2,downstream_gene_variant,,ENST00000544545,;AKTIP,downstream_gene_variant,,ENST00000570041,;RBL2,downstream_gene_variant,,ENST00000379935,;AKTIP,splice_acceptor_variant,,ENST00000563108,;AKTIP,non_coding_transcript_exon_variant,,ENST00000561799,;AKTIP,non_coding_transcript_exon_variant,,ENST00000566045,;AKTIP,upstream_gene_variant,,ENST00000571523,;AKTIP,upstream_gene_variant,,ENST00000565431,;	.	163	237	SUCCESS
CES1	1066	.	GRCh37	16	55866976	55866976	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	300	33	280	0	ENST00000361503.4:c.-9C>T		p.*3*	ENST00000361503				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32450.1	.	MUTECT|MUSE|VARSCANS	.	GGAAGGGCGAC	NONE	.	.	.	.	.	ENSP00000353720	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000360526	Transcript	.	.	ENSG00000198848	1863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EST1_HUMAN	CES1	HGNC	B7Z795_HUMAN	.	UPI000054B390	SNV	CES1,5_prime_UTR_variant,,ENST00000360526,;CES1,5_prime_UTR_variant,,ENST00000422046,;CES1,5_prime_UTR_variant,,ENST00000361503,;CES1,upstream_gene_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000565403,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;	95	280	333	SUCCESS
CCDC113	29070	.	GRCh37	16	58283892	58283892	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	56	99	0	ENST00000219299.4:c.-27A>G		p.*9*	ENST00000219299	NM_014157.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10795.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCATTGGC	NONE	.	.	.	.	.	ENSP00000219299	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000219299	Transcript	.	.	ENSG00000103021	25002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC113_HUMAN	CCDC113	HGNC	H3BQS9_HUMAN	.	UPI000007254E	SNV	CCDC113,5_prime_UTR_variant,,ENST00000219299,;CCDC113,5_prime_UTR_variant,,ENST00000443128,;CCDC113,intron_variant,,ENST00000569374,;CCDC113,non_coding_transcript_exon_variant,,ENST00000566498,;CCDC113,5_prime_UTR_variant,,ENST00000561517,;	53	99	107	SUCCESS
ZC3H18	124245	.	GRCh37	16	88677881	88677881	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	141	243	1	ENST00000301011.5:c.1412A>T	p.Asp471Val	p.D471V	ENST00000301011	NM_144604.3	471	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS10967.1	1412	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGACCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10	.	.	ENSP00000301011	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000301011	Transcript	.	.	ENSG00000158545	25091	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.06)	.	ZCH18_HUMAN	ZC3H18	HGNC	H3BRH3_HUMAN,B3KRL4_HUMAN	.	UPI00001FF676	SNV	ZC3H18,missense_variant,p.Asp495Val,ENST00000452588,;ZC3H18,missense_variant,p.Asp471Val,ENST00000301011,;ZC3H18,intron_variant,,ENST00000567085,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000564161,;ZC3H18,downstream_gene_variant,,ENST00000568072,;	1612	244	290	SUCCESS
KRT13	3860	.	GRCh37	17	39658630	39658630	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs570689594	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	67	0	ENST00000246635.3:c.1240G>A	p.Ala414Thr	p.A414T	ENST00000246635	NM_153490.2	414	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11396.1	1240	MUTECT|MUSE	.	CTTGGCGTCCT	NONE	byCluster	.	hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170	.	.	ENSP00000246635	.	6/8	.	.	.	.	.	.	.	.	rs570689594	6/8	PASS	ENST00000246635	Transcript	.	.	ENSG00000171401	6415	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.408)	.	tolerated(0.19)	.	K1C13_HUMAN	KRT13	HGNC	K7ERE3_HUMAN,K7EMD9_HUMAN	.	UPI000013CBF6	SNV	KRT13,missense_variant,p.Ala414Thr,ENST00000246635,;KRT13,missense_variant,p.Ala414Thr,ENST00000587544,;KRT13,missense_variant,p.Ala414Thr,ENST00000336861,;KRT13,downstream_gene_variant,,ENST00000590425,;KRT13,downstream_gene_variant,,ENST00000587435,;AC019349.5,non_coding_transcript_exon_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	1287	67	50	SUCCESS
MRC2	9902	.	GRCh37	17	60758227	60758227	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1260446244	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	75	0	ENST00000303375.5:c.2540C>T	p.Ala847Val	p.A847V	ENST00000303375	NM_006039.4	847	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS11634.1	2540	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGCAGG	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000307513	.	17/30	.	.	.	.	.	.	.	.	.	17/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.4)	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,missense_variant,p.Ala847Val,ENST00000303375,;MRC2,upstream_gene_variant,,ENST00000579432,;MRC2,upstream_gene_variant,,ENST00000446119,;RNU6-446P,upstream_gene_variant,,ENST00000362827,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;MRC2,downstream_gene_variant,,ENST00000584265,;MRC2,downstream_gene_variant,,ENST00000584682,;	2942	75	64	SUCCESS
TP53	7157	.	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs1057520007	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	51	163	0	ENST00000269305.4:c.614A>C	p.Tyr205Ser	p.Y205S	ENST00000269305	NM_001126112.2	205	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS11118.1	614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAATACTCC	SITE|p.Y112S|c.335A>C|3,SITE|p.Y205S|c.614A>C|3,SITE|p.Y205S|c.614A>C|14,SITE|p.Y205S|c.614A>C|3,SITE|p.Y73S|c.218A>C|3,CODON|p.0?|c.1_1182del1182|6,CODON|p.Y73C|c.218A>G|19,CODON|p.Y112C|c.335A>G|18,CODON|p.Y205C|c.614A>G|17,CODON|p.Y205C|c.614A>G|5,CODON|p.Y205C|c.614A>G|72,CODON|p.Y205F|c.614A>T|7,CODON|p.Y205C|c.614A>G|18,CODON|p.Y205C|c.614A>G|8,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y112fs*4|c.334_335insC|4,CODON|p.Y73fs*4|c.217_218insC|4,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y205fs*4|c.613_614insC|4,CODON|p.Y205fs*4|c.613_614insC|4,BUFFER|p.R209fs*6|c.625_626delAG|23,BUFFER|p.R209*|c.625A>T|4,BUFFER|p.R116*|c.346A>T|4,BUFFER|p.R209*|c.625A>T|4,BUFFER|p.R209*|c.625A>T|14,BUFFER|p.R77*|c.229A>T|4,BUFFER|p.D208E|c.624C>G|3,BUFFER|p.D208V|c.623A>T|14,BUFFER|p.D208G|c.623A>G|5,BUFFER|p.D207G|c.620A>G|4,BUFFER|p.L206fs*41|c.617delT|4,BUFFER|p.L206*|c.617T>A|9,BUFFER|p.Y205N|c.613T>A|5,BUFFER|p.Y205N|c.613T>A|3,BUFFER|p.Y112N|c.334T>A|3,BUFFER|p.Y205H|c.613T>C|6,BUFFER|p.Y205D|c.613T>G|14,BUFFER|p.Y73N|c.217T>A|3,BUFFER|p.E204fs*43|c.610delG|3,BUFFER|p.E204*|c.610G>T|3,BUFFER|p.E72*|c.214G>T|10,BUFFER|p.E204*|c.610G>T|32,BUFFER|p.E111*|c.331G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|9,BUFFER|p.E204*|c.610G>T|4,BUFFER|p.V203V|c.609G>T|3,BUFFER|p.V203E|c.608T>A|6,BUFFER|p.V203L|c.607G>T|4,BUFFER|p.R202L|c.605G>T|3,BUFFER|p.R202H|c.605G>A|4,BUFFER|p.R202C|c.604C>T|4,BUFFER|p.R202S|c.604C>A|6,BUFFER|p.L201F|c.603G>T|3,BUFFER|p.L201F|c.603G>C|4	.	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417	.	.	ENSP00000269305	.	6/11	.	.	.	.	.	.	.	.	TP53_g.12683A>T,TP53_g.12683A>C,TP53_g.12683A>G,COSM43947,COSM44169,COSM11351,COSM99633,COSM215720,COSM99630,COSM215719,COSM99631,COSM215721,COSM3378351,COSM3421935,COSM3421934,COSM1649393,COSM99632,COSM215722	6/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	.	.	possibly_damaging(0.523)	.	deleterious(0)	0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Tyr205Ser,ENST00000413465,;TP53,missense_variant,p.Tyr205Ser,ENST00000420246,;TP53,missense_variant,p.Tyr205Ser,ENST00000269305,;TP53,missense_variant,p.Tyr73Ser,ENST00000509690,;TP53,missense_variant,p.Tyr205Ser,ENST00000359597,;TP53,missense_variant,p.Tyr112Ser,ENST00000514944,;TP53,missense_variant,p.Tyr205Ser,ENST00000445888,;TP53,missense_variant,p.Tyr205Ser,ENST00000455263,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	804	163	143	SUCCESS
CANT1	124583	.	GRCh37	17	76993313	76993313	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	69	0	ENST00000302345.2:c.392A>G	p.Lys131Arg	p.K131R	ENST00000302345	NM_001159773.1	131	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS11760.1	392	MUTECT|MUSE	.	AGCCCTTTTTC	NONE	.	.	hmmpanther:PTHR13023:SF3,hmmpanther:PTHR13023,Pfam_domain:PF06079,Superfamily_domains:0049295	.	.	ENSP00000307674	.	2/4	.	.	.	.	.	.	.	.	COSM1470942	2/4	PASS	ENST00000302345	Transcript	.	.	ENSG00000171302	19721	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.011)	.	tolerated(0.47)	1	CANT1_HUMAN	CANT1	HGNC	K7EQT4_HUMAN,K7EMT2_HUMAN,K7EKT2_HUMAN,K7EIP9_HUMAN	.	UPI00000734F8	SNV	CANT1,missense_variant,p.Lys131Arg,ENST00000302345,;CANT1,missense_variant,p.Lys131Arg,ENST00000591773,;CANT1,missense_variant,p.Lys131Arg,ENST00000392446,;CANT1,synonymous_variant,p.%3D,ENST00000588611,;CANT1,downstream_gene_variant,,ENST00000591625,;CANT1,downstream_gene_variant,,ENST00000586916,;CANT1,downstream_gene_variant,,ENST00000588075,;CANT1,downstream_gene_variant,,ENST00000592033,;CANT1,downstream_gene_variant,,ENST00000590370,;CANT1,downstream_gene_variant,,ENST00000591811,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,downstream_gene_variant,,ENST00000592887,;CANT1,missense_variant,p.Lys131Arg,ENST00000592228,;CANT1,upstream_gene_variant,,ENST00000588096,;	887	69	50	SUCCESS
GUCY2D	3000	.	GRCh37	17	7909969	7909969	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs140638938	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	57	0	ENST00000254854.4:c.1319del	p.Gly440AspfsTer48	p.G440Dfs*48	ENST00000254854	NM_000180.3	439	Ggg/gg	0	A:0	A:0	.	A:0	.	-	G/X	protein_coding	YES	CCDS11127.1	1315	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCGTGGGGGA	NONE	byCluster|by1000G	.	hmmpanther:PTHR11920:SF228,hmmpanther:PTHR11920,Superfamily_domains:SSF53822	A:0	A:0.0003	ENSP00000254854	A:0	4/20	.	.	.	.	.	.	.	.	rs140638938	4/20	PASS	ENST00000254854	Transcript	.	A:0.0002	ENSG00000132518	4689	4	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0.001	.	.	GUC2D_HUMAN	GUCY2D	HGNC	.	.	UPI0000128C1C	deletion	GUCY2D,frameshift_variant,p.Gly440AspfsTer48,ENST00000254854,;	1465	57	42	SUCCESS
LPHN1	0	.	GRCh37	19	14274022	14274022	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	16	72	0	ENST00000340736.6:c.606C>A	p.Thr202=	p.T202=	ENST00000340736	NM_001008701.2	202	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS32928.1	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGTGGTGTG	NONE	.	.	SMART_domains:SM00284,Pfam_domain:PF02191,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF62,PROSITE_profiles:PS51132	.	.	ENSP00000340688	.	6/24	.	.	.	.	.	.	.	.	.	6/24	PASS	ENST00000340736	Transcript	.	.	ENSG00000072071	20973	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPHN1_HUMAN	LPHN1	HGNC	.	.	UPI000005046A	SNV	LPHN1,synonymous_variant,p.%3D,ENST00000361434,;LPHN1,synonymous_variant,p.%3D,ENST00000340736,;LPHN1,upstream_gene_variant,,ENST00000589616,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000592086,;LPHN1,non_coding_transcript_exon_variant,,ENST00000591528,;LPHN1,upstream_gene_variant,,ENST00000588677,;	904	72	47	SUCCESS
SF3A2	8175	.	GRCh37	19	2245549	2245549	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	36	161	0	ENST00000221494.5:c.350A>G	p.Tyr117Cys	p.Y117C	ENST00000221494	NM_007165.4	117	tAc/tGc	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS12084.1	350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTACAAAG	NONE	.	.	hmmpanther:PTHR23205:SF0,hmmpanther:PTHR23205,SMART_domains:SM01050	.	.	ENSP00000221494	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000221494	Transcript	.	.	ENSG00000104897	10766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	SF3A2_HUMAN	SF3A2	HGNC	K7EP23_HUMAN	.	UPI0000135468	SNV	SF3A2,missense_variant,p.Tyr117Cys,ENST00000221494,;SF3A2,missense_variant,p.Tyr117Cys,ENST00000586396,;AMH,upstream_gene_variant,,ENST00000592877,;AMH,upstream_gene_variant,,ENST00000221496,;SF3A2,non_coding_transcript_exon_variant,,ENST00000587637,;SF3A2,non_coding_transcript_exon_variant,,ENST00000592839,;SF3A2,non_coding_transcript_exon_variant,,ENST00000592314,;SF3A2,non_coding_transcript_exon_variant,,ENST00000591121,;AMH,upstream_gene_variant,,ENST00000609455,;SF3A2,downstream_gene_variant,,ENST00000589118,;SF3A2,downstream_gene_variant,,ENST00000590034,;AMH,upstream_gene_variant,,ENST00000589313,;	768	161	145	SUCCESS
SF3A2	8175	.	GRCh37	19	2248057	2248077	+	inframe_deletion	In_Frame_Del	DEL	CCCCCAGCTCCTGGCGTCCAC	CCCCCAGCTCCTGGCGTCCAC	-	rs750934748	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	CCCCCAGCTCCTGGCGTCCAC	CCCCCAGCTCCTGGCGTCCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	22	0	ENST00000221494.5:c.927_947del	p.Ala319_Pro325del	p.A319_P325del	ENST00000221494	NM_007165.4	303	CCCCCAGCTCCTGGCGTCCAC/-	0	-:0.0207	.	.	.	.	-	PPAPGVH/-	protein_coding	YES	CCDS12084.1	907-927	INDELOCATOR|VARSCANI	.	GTCCATCCCCCAGCTCCTGGCGTCCACCCCCC	NONE	.	.	Low_complexity_(Seg):seg	.	-:0.0122	ENSP00000221494	.	9/9	.	.	.	.	.	.	.	.	rs781622011	9/9	common_in_exac	ENST00000221494	Transcript	.	.	ENSG00000104897	10766	20	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SF3A2_HUMAN	SF3A2	HGNC	K7EP23_HUMAN	.	UPI0000135468	deletion	SF3A2,inframe_deletion,p.Ala319_Pro325del,ENST00000221494,;JSRP1,downstream_gene_variant,,ENST00000300961,;SF3A2,downstream_gene_variant,,ENST00000586396,;JSRP1,downstream_gene_variant,,ENST00000586471,;AMH,upstream_gene_variant,,ENST00000592877,;AMH,upstream_gene_variant,,ENST00000221496,;MIR4321,upstream_gene_variant,,ENST00000592276,;AMH,upstream_gene_variant,,ENST00000609455,;SF3A2,downstream_gene_variant,,ENST00000587637,;SF3A2,downstream_gene_variant,,ENST00000589118,;SF3A2,downstream_gene_variant,,ENST00000590034,;SF3A2,downstream_gene_variant,,ENST00000592839,;SF3A2,downstream_gene_variant,,ENST00000592314,;AMH,upstream_gene_variant,,ENST00000589313,;SF3A2,downstream_gene_variant,,ENST00000591121,;	1325-1345	22	32	SUCCESS
RYR1	6261	.	GRCh37	19	39034514	39034514	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	35	0	ENST00000359596.3:c.12011A>G	p.Gln4004Arg	p.Q4004R	ENST00000359596		4004	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS33011.1	12011	RADIA|MUSE	.	CGCTCAGGTTC	NONE	.	.	hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715	.	.	ENSP00000352608	.	87/106	.	.	.	.	.	.	.	.	.	87/106	PASS	ENST00000359596	Transcript	1	.	ENSG00000196218	10483	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	.	.	RYR1_HUMAN	RYR1	HGNC	O75591_HUMAN,B4DET7_HUMAN	.	UPI0000D7E62F	SNV	RYR1,missense_variant,p.Gln3999Arg,ENST00000355481,;RYR1,missense_variant,p.Gln3999Arg,ENST00000360985,;RYR1,missense_variant,p.Gln4004Arg,ENST00000359596,;RYR1,splice_region_variant,,ENST00000593322,;RYR1,splice_region_variant,,ENST00000594335,;	12011	35	31	SUCCESS
SHKBP1	92799	.	GRCh37	19	41096311	41096311	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	144	47	196	1	ENST00000291842.5:c.1751G>A	p.Gly584Asp	p.G584D	ENST00000291842	NM_138392.3	584	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS12560.1	1751	RADIA|SOMATICSNIPER|VARSCANS	.	GGACGGCCTCG	NONE	.	.	hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF3	.	.	ENSP00000291842	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000291842	Transcript	.	.	ENSG00000160410	19214	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.62)	.	SHKB1_HUMAN	SHKBP1	HGNC	B3KVX8_HUMAN	.	UPI0000036171	SNV	SHKBP1,missense_variant,p.Gly559Asp,ENST00000600733,;SHKBP1,missense_variant,p.Gly185Asp,ENST00000602011,;SHKBP1,missense_variant,p.Gly584Asp,ENST00000291842,;SHKBP1,missense_variant,p.Gly155Asp,ENST00000597396,;SHKBP1,intron_variant,,ENST00000600718,;SHKBP1,intron_variant,,ENST00000593764,;SHKBP1,intron_variant,,ENST00000600320,;SHKBP1,intron_variant,,ENST00000594862,;SHKBP1,intron_variant,,ENST00000594298,;SHKBP1,intron_variant,,ENST00000595726,;LTBP4,upstream_gene_variant,,ENST00000545697,;LTBP4,upstream_gene_variant,,ENST00000204005,;LTBP4,upstream_gene_variant,,ENST00000602240,;LTBP4,upstream_gene_variant,,ENST00000600026,;SHKBP1,downstream_gene_variant,,ENST00000597649,;LTBP4,upstream_gene_variant,,ENST00000599016,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000599833,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000602239,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,intron_variant,,ENST00000596163,;SHKBP1,downstream_gene_variant,,ENST00000600791,;	1800	198	191	SUCCESS
CLASRP	11129	.	GRCh37	19	45567465	45567465	+	synonymous_variant	Silent	SNP	G	G	A	rs752484206	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	7	108	0	ENST00000221455.3:c.1101G>A	p.Pro367=	p.P367=	ENST00000221455	NM_007056.2	367	ccG/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS12652.2	1101	MUTECT|MUSE	.	GCCCCGGGACG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4	.	.	ENSP00000221455	.	12/21	.	.	.	.	.	.	.	.	rs752484206	12/21	PASS	ENST00000221455	Transcript	.	.	ENSG00000104859	17731	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLASR_HUMAN	CLASRP	HGNC	K7EKC9_HUMAN	.	UPI000020262D	SNV	CLASRP,synonymous_variant,p.%3D,ENST00000391953,;CLASRP,synonymous_variant,p.%3D,ENST00000221455,;CLASRP,synonymous_variant,p.%3D,ENST00000544944,;CLASRP,upstream_gene_variant,,ENST00000591904,;CLASRP,synonymous_variant,p.%3D,ENST00000391952,;CLASRP,downstream_gene_variant,,ENST00000591410,;CLASRP,upstream_gene_variant,,ENST00000587472,;CLASRP,upstream_gene_variant,,ENST00000585432,;CLASRP,upstream_gene_variant,,ENST00000585615,;CLASRP,downstream_gene_variant,,ENST00000587112,;	1199	108	115	SUCCESS
CCDC9	26093	.	GRCh37	19	47763963	47763963	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368381443	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	50	0	ENST00000221922.6:c.329G>T	p.Arg110Leu	p.R110L	ENST00000221922	NM_015603.2	110	cGc/cTc	0	A:0	.	.	.	.	T	R/L	protein_coding	YES	CCDS12698.1	329	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCGCGCAGCT	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15635:SF11,hmmpanther:PTHR15635	.	A:0.0001	ENSP00000221922	.	5/12	.	.	.	.	.	.	.	.	rs368381443	5/12	PASS	ENST00000221922	Transcript	.	.	ENSG00000105321	24560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.736)	.	deleterious(0.01)	.	CCDC9_HUMAN	CCDC9	HGNC	M0R2W0_HUMAN,M0QZR0_HUMAN,M0QYB4_HUMAN	.	UPI0000073E41	SNV	CCDC9,missense_variant,p.Arg110Leu,ENST00000599398,;CCDC9,missense_variant,p.Arg110Leu,ENST00000221922,;CCDC9,downstream_gene_variant,,ENST00000595659,;CCDC9,downstream_gene_variant,,ENST00000596938,;CCDC9,downstream_gene_variant,,ENST00000601154,;	551	50	63	SUCCESS
PPFIA3	8541	.	GRCh37	19	49652850	49652850	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	41	155	0	ENST00000334186.4:c.3401T>C	p.Phe1134Ser	p.F1134S	ENST00000334186	NM_003660.3	1134	tTc/tCc	0	.	.	.	.	.	C	F/S	protein_coding	YES	CCDS12758.1	3401	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTTCCGGG	NONE	.	.	hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4	.	.	ENSP00000335614	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000334186	Transcript	.	.	ENSG00000177380	9247	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious_low_confidence(0)	.	LIPA3_HUMAN	PPFIA3	HGNC	R4GNF1_HUMAN	.	UPI00001AE464	SNV	PPFIA3,missense_variant,p.Phe1134Ser,ENST00000334186,;PPFIA3,missense_variant,p.Phe1125Ser,ENST00000602351,;PPFIA3,missense_variant,p.Phe183Ser,ENST00000602897,;PPFIA3,missense_variant,p.Phe217Ser,ENST00000602848,;HRC,downstream_gene_variant,,ENST00000598858,;HRC,downstream_gene_variant,,ENST00000595625,;HRC,downstream_gene_variant,,ENST00000252825,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602905,;PPFIA3,upstream_gene_variant,,ENST00000602783,;HRC,downstream_gene_variant,,ENST00000595167,;PPFIA3,downstream_gene_variant,,ENST00000602800,;	3750	155	171	SUCCESS
KIR2DL1	3802	.	GRCh37	19	55290064	55290064	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs113536578	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	105	0	ENST00000336077.6:c.665G>A	p.Gly222Glu	p.G222E	ENST00000336077	NM_014218.2	222	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS12904.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAGGAAACC	NONE	.	.	Superfamily_domains:SSF48726,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	.	.	ENSP00000336769	.	5/8	.	.	.	.	.	.	.	.	rs113536578,COSM3539008	5/8	PASS	ENST00000336077	Transcript	.	.	ENSG00000125498	6329	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.419)	.	tolerated(0.12)	0,1	KI2L1_HUMAN	KIR2DL1	HGNC	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN	.	UPI00001195F7	SNV	KIR2DL1,missense_variant,p.Gly222Glu,ENST00000336077,;KIR2DL1,missense_variant,p.Gly222Glu,ENST00000291633,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	705	105	82	SUCCESS
TMEM86B	255043	.	GRCh37	19	55740278	55740278	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs778268894	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	16	0	ENST00000327042.4:c.-169C>T		p.*57*	ENST00000327042	NM_173804.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12920.1	.	MUTECT|MUSE	.	CTGGCGCCCGC	NONE	.	.	.	.	.	ENSP00000321038	.	1/3	.	.	.	.	.	.	.	.	rs778268894	1/3	PASS	ENST00000327042	Transcript	.	.	ENSG00000180089	28448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM86B_HUMAN	TMEM86B	HGNC	.	.	UPI0000141ABB	SNV	TMEM86B,5_prime_UTR_variant,,ENST00000327042,;AC010327.2,3_prime_UTR_variant,,ENST00000598855,;PPP6R1,downstream_gene_variant,,ENST00000587283,;PPP6R1,downstream_gene_variant,,ENST00000412770,;TMEM86B,non_coding_transcript_exon_variant,,ENST00000586923,;TMEM86B,upstream_gene_variant,,ENST00000589190,;PPP6R1,downstream_gene_variant,,ENST00000587457,;TMEM86B,upstream_gene_variant,,ENST00000585416,;	355	16	31	SUCCESS
PALMD	54873	.	GRCh37	1	100152711	100152711	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	261	76	314	0	ENST00000263174.4:c.480T>C	p.Asn160=	p.N160=	ENST00000263174	NM_017734.4	160	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS758.1	480	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATGAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5,Pfam_domain:PF03285	.	.	ENSP00000263174	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,synonymous_variant,p.%3D,ENST00000605497,;PALMD,synonymous_variant,p.%3D,ENST00000263174,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;	855	314	337	SUCCESS
TSPAN2	10100	.	GRCh37	1	115615540	115615540	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs570453338	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	11	63	0	ENST00000369516.2:c.158A>G	p.Glu53Gly	p.E53G	ENST00000369516	NM_005725.4	53	gAg/gGg	0	.	C:0	.	C:0	.	C	E/G	protein_coding	YES	CCDS881.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACTCTGGG	NONE	by1000G	.	hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF155,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419	C:0	.	ENSP00000358529	C:0	2/8	.	.	.	.	.	.	.	.	rs570453338	2/8	PASS	ENST00000369516	Transcript	.	C:0.0002	ENSG00000134198	20659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	C:0.001	tolerated(0.16)	.	TSN2_HUMAN	TSPAN2	HGNC	.	.	UPI0000137765	SNV	TSPAN2,missense_variant,p.Glu53Gly,ENST00000369514,;TSPAN2,missense_variant,p.Glu53Gly,ENST00000369515,;TSPAN2,missense_variant,p.Glu47Gly,ENST00000433172,;TSPAN2,missense_variant,p.Glu53Gly,ENST00000369516,;	190	63	70	SUCCESS
CCNL2	81669	.	GRCh37	1	1326997	1326997	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	50	229	0	ENST00000400809.3:c.660-752C>T		p.*220*	ENST00000400809	NM_030937.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30557.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGAGAAG	NONE	.	.	.	.	.	ENSP00000383611	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000400809	Transcript	.	.	ENSG00000221978	20570	.	.	MODIFIER	5/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNL2_HUMAN	CCNL2	HGNC	J3QSH2_HUMAN,B4DE38_HUMAN	.	UPI00000713F5	SNV	CCNL2,intron_variant,,ENST00000400809,;CCNL2,intron_variant,,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000408918,;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,non_coding_transcript_exon_variant,,ENST00000505849,;CCNL2,intron_variant,,ENST00000471930,;CCNL2,intron_variant,,ENST00000469113,;CCNL2,non_coding_transcript_exon_variant,,ENST00000418865,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,non_coding_transcript_exon_variant,,ENST00000482365,;CCNL2,intron_variant,,ENST00000481223,;CCNL2,intron_variant,,ENST00000482621,;CCNL2,intron_variant,,ENST00000488340,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,upstream_gene_variant,,ENST00000480479,;CCNL2,downstream_gene_variant,,ENST00000463895,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,upstream_gene_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000492998,;	.	229	193	SUCCESS
SNX27	81609	.	GRCh37	1	151641091	151641091	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	80	99	0	ENST00000458013.2:c.1129del	p.Val377LeufsTer12	p.V377Lfs*12	ENST00000458013		377	Gtt/tt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS1001.1	1129	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGCTGTTACC	NONE	.	.	hmmpanther:PTHR12431:SF1,hmmpanther:PTHR12431	.	.	ENSP00000357836	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000368843	Transcript	.	.	ENSG00000143376	20073	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNX27_HUMAN	SNX27	HGNC	.	.	UPI00001A962E	deletion	SNX27,frameshift_variant,p.Val377LeufsTer12,ENST00000368843,;SNX27,frameshift_variant,p.Val377LeufsTer12,ENST00000458013,;SNX27,frameshift_variant,p.Val284LeufsTer12,ENST00000368838,;SNX27,non_coding_transcript_exon_variant,,ENST00000482791,;SNX27,3_prime_UTR_variant,,ENST00000368841,;	1249	99	243	SUCCESS
LCE1D	353134	.	GRCh37	1	152770563	152770563	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	390	131	348	0	ENST00000326233.6:c.293G>T	p.Gly98Val	p.G98V	ENST00000326233	NM_178352.2	98	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS1025.1	293	RADIA|MUTECT|MUSE	.	GGGGGGCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF48,hmmpanther:PTHR23263,Pfam_domain:PF14672	.	.	ENSP00000316737	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326233	Transcript	.	.	ENSG00000172155	29465	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	unknown(0)	.	.	.	LCE1D_HUMAN	LCE1D	HGNC	.	.	UPI0000192765	SNV	LCE1D,missense_variant,p.Gly98Val,ENST00000326233,;	336	348	522	SUCCESS
BCAN	63827	.	GRCh37	1	156618414	156618414	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761137329	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	76	114	0	ENST00000329117.5:c.824C>T	p.Ala275Val	p.A275V	ENST00000329117	NM_021948.4	275	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1149.1	824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGCGTACT	NONE	byFrequency	.	PROSITE_profiles:PS50963,hmmpanther:PTHR22804,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436	.	.	ENSP00000331210	.	6/14	.	.	.	.	.	.	.	.	rs761137329	6/14	PASS	ENST00000329117	Transcript	.	.	ENSG00000132692	23059	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.183)	.	deleterious(0.04)	.	PGCB_HUMAN	BCAN	HGNC	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN	.	UPI000006F0E9	SNV	BCAN,missense_variant,p.Ala275Val,ENST00000361588,;BCAN,missense_variant,p.Ala173Val,ENST00000424639,;BCAN,missense_variant,p.Ala275Val,ENST00000329117,;BCAN,downstream_gene_variant,,ENST00000441358,;BCAN,downstream_gene_variant,,ENST00000457777,;RP11-284F21.7,intron_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,3_prime_UTR_variant,,ENST00000479949,;BCAN,3_prime_UTR_variant,,ENST00000491823,;	1160	114	167	SUCCESS
PYHIN1	149628	.	GRCh37	1	158908989	158908989	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	180	48	237	0	ENST00000368140.1:c.531A>G	p.Pro177=	p.P177=	ENST00000368140	NM_152501.4	177	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS1178.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCACCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12200:SF14,hmmpanther:PTHR12200	.	.	ENSP00000357122	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000368140	Transcript	.	.	ENSG00000163564	28894	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFIX_HUMAN	PYHIN1	HGNC	.	.	UPI0000225618	SNV	PYHIN1,synonymous_variant,p.%3D,ENST00000368135,;PYHIN1,synonymous_variant,p.%3D,ENST00000392254,;PYHIN1,synonymous_variant,p.%3D,ENST00000368140,;PYHIN1,synonymous_variant,p.%3D,ENST00000392252,;PYHIN1,synonymous_variant,p.%3D,ENST00000368138,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,upstream_gene_variant,,ENST00000485134,;	776	238	228	SUCCESS
PLEKHM2	23207	.	GRCh37	1	16055169	16055169	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	32	120	0	ENST00000375799.3:c.1927A>G	p.Thr643Ala	p.T643A	ENST00000375799	NM_015164.2	643	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS44063.1	1927	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCACAGAG	NONE	.	.	hmmpanther:PTHR22835:SF132,hmmpanther:PTHR22835	.	.	ENSP00000364956	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000375799	Transcript	.	.	ENSG00000116786	29131	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	PKHM2_HUMAN	PLEKHM2	HGNC	.	.	UPI00001C1D9C	SNV	PLEKHM2,missense_variant,p.Thr623Ala,ENST00000375793,;PLEKHM2,missense_variant,p.Thr643Ala,ENST00000375799,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,upstream_gene_variant,,ENST00000477849,;	2154	120	137	SUCCESS
SUSD4	55061	.	GRCh37	1	223396698	223396698	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	38	0	ENST00000343846.3:c.1337C>T	p.Pro446Leu	p.P446L	ENST00000343846		446	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41471.1	1337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGGTGAA	NONE	.	.	.	.	.	ENSP00000344219	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000343846	Transcript	.	.	ENSG00000143502	25470	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.069)	.	tolerated(0.08)	.	SUSD4_HUMAN	SUSD4	HGNC	B7Z469_HUMAN	.	UPI0000205CB5	SNV	SUSD4,missense_variant,p.Pro419Leu,ENST00000608996,;SUSD4,missense_variant,p.Pro446Leu,ENST00000343846,;SUSD4,missense_variant,p.Pro286Leu,ENST00000454695,;SUSD4,missense_variant,p.Pro377Leu,ENST00000484758,;SUSD4,missense_variant,p.Pro446Leu,ENST00000494793,;SUSD4,missense_variant,p.Pro446Leu,ENST00000366878,;SUSD4,non_coding_transcript_exon_variant,,ENST00000483818,;SUSD4,non_coding_transcript_exon_variant,,ENST00000478605,;SUSD4,downstream_gene_variant,,ENST00000470249,;SUSD4,downstream_gene_variant,,ENST00000484503,;	1971	38	44	SUCCESS
DNAH14	127602	.	GRCh37	1	225305624	225305624	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	36	157	0	ENST00000445597.2:c.3052-22846G>A		p.*1018*	ENST00000445597		416		0	.	.	.	.	.	A	L	protein_coding	.	.	1248	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTGATATG	NONE	.	.	Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF132	.	.	ENSP00000332424	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000328556	Transcript	.	.	ENSG00000185842	2945	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DNAH14	HGNC	H9KV43_HUMAN	.	UPI000198C4F6	SNV	DNAH14,synonymous_variant,p.%3D,ENST00000328556,;DNAH14,synonymous_variant,p.%3D,ENST00000430092,;DNAH14,synonymous_variant,p.%3D,ENST00000474801,;DNAH14,synonymous_variant,p.%3D,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,upstream_gene_variant,,ENST00000495456,;	1248	157	186	SUCCESS
RYR2	6262	.	GRCh37	1	237729909	237729909	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749566870	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	10	107	0	ENST00000366574.2:c.3257G>A	p.Arg1086Gln	p.R1086Q	ENST00000366574	NM_001035.2	1086	cGa/cAa	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS55691.1	3257	MUTECT|MUSE|VARSCANS	.	GTTCCGAATCT	NONE	.	.	hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	.	.	ENSP00000355533	.	28/105	.	.	.	.	.	.	.	.	rs749566870	28/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,missense_variant,p.Arg1070Gln,ENST00000542537,;RYR2,missense_variant,p.Arg1086Gln,ENST00000366574,;RYR2,missense_variant,p.Arg1084Gln,ENST00000360064,;	3574	107	109	SUCCESS
OR2G3	81469	.	GRCh37	1	247768926	247768926	+	synonymous_variant	Silent	SNP	C	C	T	rs768217253	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	4	86	0	ENST00000320002.2:c.39C>T	p.Ile13=	p.I13=	ENST00000320002	NM_001001914.1	13	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31093.1	39	MUTECT|MUSE	.	TTCATCCTTCT	BUFFER|p.M10I|c.30G>A|3	.	.	hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000326301	.	1/1	.	.	.	.	.	.	.	.	rs768217253	1/1	PASS	ENST00000320002	Transcript	.	.	ENSG00000177476	15008	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OR2G3_HUMAN	OR2G3	HGNC	.	.	UPI0000041CD9	SNV	OR2G3,synonymous_variant,p.%3D,ENST00000320002,;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000446347,;RP11-978I15.10,intron_variant,,ENST00000435333,;	71	86	88	SUCCESS
SMPDL3B	27293	.	GRCh37	1	28282238	28282238	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139914106	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	28	111	0	ENST00000373894.3:c.734C>T	p.Thr245Met	p.T245M	ENST00000373894	NM_014474.2	245	aCg/aTg	0	T:0.0014	T:0.0023	.	T:0	.	T	T/M	protein_coding	YES	CCDS30655.1	734	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACGCAAA	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF25,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF036767,Superfamily_domains:SSF56300	T:0	T:0.0002	ENSP00000363001	T:0	6/8	.	.	.	.	.	.	.	.	rs139914106	6/8	PASS	ENST00000373894	Transcript	.	T:0.0006	ENSG00000130768	21416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	T:0	deleterious(0.04)	.	ASM3B_HUMAN	SMPDL3B	HGNC	B4DEC6_HUMAN	.	UPI00004700F5	SNV	SMPDL3B,missense_variant,p.Thr245Met,ENST00000373888,;SMPDL3B,missense_variant,p.Thr197Met,ENST00000549094,;SMPDL3B,missense_variant,p.Thr245Met,ENST00000373894,;SMPDL3B,downstream_gene_variant,,ENST00000411604,;XKR8,upstream_gene_variant,,ENST00000373884,;RP11-460I13.2,intron_variant,,ENST00000448015,;SMPDL3B,3_prime_UTR_variant,,ENST00000548116,;	925	111	119	SUCCESS
DPH2	1802	.	GRCh37	1	44436635	44436635	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	56	0	ENST00000255108.3:c.261-3C>A		p.X87_splice	ENST00000255108	NM_001384.4	87		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS504.1	.	RADIA|MUSE|VARSCANS	.	CCCTGCAGCTG	NONE	.	.	.	.	.	ENSP00000255108	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000255108	Transcript	.	.	ENSG00000132768	3004	.	.	LOW	2/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPH2_HUMAN	DPH2	HGNC	B3KRB8_HUMAN	.	UPI0000070CCB	SNV	DPH2,splice_region_variant,,ENST00000396758,;DPH2,splice_region_variant,,ENST00000255108,;DPH2,intron_variant,,ENST00000412950,;IPO13,downstream_gene_variant,,ENST00000372343,;IPO13,downstream_gene_variant,,ENST00000372339,;ATP6V0B,upstream_gene_variant,,ENST00000236067,;ATP6V0B,upstream_gene_variant,,ENST00000472505,;ATP6V0B,upstream_gene_variant,,ENST00000532642,;DPH2,upstream_gene_variant,,ENST00000459879,;ATP6V0B,upstream_gene_variant,,ENST00000471859,;ATP6V0B,upstream_gene_variant,,ENST00000472174,;DPH2,splice_region_variant,,ENST00000471934,;DPH2,splice_region_variant,,ENST00000529729,;DPH2,non_coding_transcript_exon_variant,,ENST00000477294,;IPO13,downstream_gene_variant,,ENST00000486876,;ATP6V0B,upstream_gene_variant,,ENST00000472277,;DPH2,splice_region_variant,,ENST00000532140,;DPH2,splice_region_variant,,ENST00000490861,;DPH2,splice_region_variant,,ENST00000476260,;DPH2,splice_region_variant,,ENST00000495421,;DPH2,3_prime_UTR_variant,,ENST00000492306,;DPH2,non_coding_transcript_exon_variant,,ENST00000534786,;DPH2,non_coding_transcript_exon_variant,,ENST00000534655,;DPH2,non_coding_transcript_exon_variant,,ENST00000527567,;DPH2,intron_variant,,ENST00000524776,;ATP6V0B,upstream_gene_variant,,ENST00000461670,;ATP6V0B,upstream_gene_variant,,ENST00000473485,;ATP6V0B,upstream_gene_variant,,ENST00000498208,;ATP6V0B,upstream_gene_variant,,ENST00000496131,;DPH2,upstream_gene_variant,,ENST00000527319,;ATP6V0B,upstream_gene_variant,,ENST00000468183,;DPH2,downstream_gene_variant,,ENST00000530988,;ATP6V0B,upstream_gene_variant,,ENST00000532072,;	.	56	37	SUCCESS
USP24	23358	.	GRCh37	1	55604390	55604390	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	77	0	ENST00000294383.6:c.2819A>T	p.Asp940Val	p.D940V	ENST00000294383	NM_015306.2	940	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS44154.2	2819	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATCCTTA	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349	.	.	ENSP00000294383	.	26/68	.	.	.	.	.	.	.	.	.	26/68	PASS	ENST00000294383	Transcript	.	.	ENSG00000162402	12623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	UBP24_HUMAN	USP24	HGNC	.	.	UPI000059CFDE	SNV	USP24,missense_variant,p.Asp780Val,ENST00000407756,;USP24,missense_variant,p.Asp940Val,ENST00000294383,;	2819	77	95	SUCCESS
ATG4C	84938	.	GRCh37	1	63282243	63282243	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	rs781364571	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	10	69	0	ENST00000317868.4:c.161-3T>A		p.X54_splice	ENST00000317868	NM_032852.3	54		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS623.1	.	RADIA|MUSE|VARSCANS	.	TTTTTTAGATG	NONE	byFrequency	.	.	.	.	ENSP00000322159	.	.	.	.	.	.	.	.	.	.	rs781364571	.	PASS	ENST00000317868	Transcript	.	.	ENSG00000125703	16040	.	.	LOW	3/10	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATG4C_HUMAN	ATG4C	HGNC	C9JC51_HUMAN,A6NGQ4_HUMAN	.	UPI000000DC9F	SNV	ATG4C,splice_region_variant,,ENST00000443289,;ATG4C,splice_region_variant,,ENST00000317868,;ATG4C,splice_region_variant,,ENST00000371118,;ATG4C,splice_region_variant,,ENST00000371120,;ATG4C,upstream_gene_variant,,ENST00000414558,;	.	69	72	SUCCESS
LRRIQ3	127255	.	GRCh37	1	74540431	74540431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	231	68	297	0	ENST00000354431.4:c.911G>T	p.Arg304Ile	p.R304I	ENST00000354431	NM_001105659.1	304	aGa/aTa	0	.	.	.	.	.	A	R/I	protein_coding	YES	CCDS41350.1	911	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCTGTGT	NONE	.	.	hmmpanther:PTHR10588:SF206,hmmpanther:PTHR10588	.	.	ENSP00000346414	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000354431	Transcript	.	.	ENSG00000162620	28318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.13)	.	LRIQ3_HUMAN	LRRIQ3	HGNC	.	.	UPI000155D493	SNV	LRRIQ3,missense_variant,p.Arg15Ile,ENST00000417067,;LRRIQ3,missense_variant,p.Arg304Ile,ENST00000395089,;LRRIQ3,missense_variant,p.Arg304Ile,ENST00000354431,;LRRIQ3,3_prime_UTR_variant,,ENST00000415760,;	1103	297	299	SUCCESS
CLCA3P	9629	.	GRCh37	1	87104623	87104623	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	7	124	0	ENST00000466454.1:n.658T>C		p.*220*	ENST00000466454				0	.	.	.	.	.	C	.	antisense	YES	.	.	MUTECT|MUSE	.	GTGACTCAAAG	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000456587	Transcript	.	.	ENSG00000236915	.	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP4-651E10.4	Clone_based_vega_gene	.	.	.	SNV	RP4-651E10.4,intron_variant,,ENST00000456587,;CLCA3P,non_coding_transcript_exon_variant,,ENST00000466454,;CLCA3P,non_coding_transcript_exon_variant,,ENST00000284054,;CLCA3P,non_coding_transcript_exon_variant,,ENST00000490028,;	.	124	119	SUCCESS
NFATC2	4773	.	GRCh37	20	50048660	50048675	+	frameshift_variant	Frame_Shift_Del	DEL	GGTAATACTTCCTTTT	GGTAATACTTCCTTTT	-	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	GGTAATACTTCCTTTT	GGTAATACTTCCTTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	103	16	141	0	ENST00000396009.3:c.2651_2666del	p.Gln884LeufsTer4	p.Q884Lfs*4	ENST00000396009	NM_001258297.1	884	cAAAAGGAAGTATTACCt/ct	0	.	.	.	.	.	-	QKEVLP/X	protein_coding	YES	CCDS13437.1	2651-2666	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCGCAGGTAATACTTCCTTTTGGTCA	NONE	.	.	hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	deletion	NFATC2,frameshift_variant,p.Gln884LeufsTer4,ENST00000396009,;NFATC2,frameshift_variant,p.Gln864LeufsTer4,ENST00000609943,;NFATC2,frameshift_variant,p.Gln884LeufsTer4,ENST00000371564,;NFATC2,frameshift_variant,p.Gln665LeufsTer4,ENST00000609507,;NFATC2,frameshift_variant,p.Gln665LeufsTer4,ENST00000610033,;NFATC2,frameshift_variant,p.Gln864LeufsTer4,ENST00000414705,;	2871-2886	141	119	SUCCESS
ZNF831	128611	.	GRCh37	20	57767596	57767596	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	18	106	0	ENST00000371030.2:c.1522C>G	p.Pro508Ala	p.P508A	ENST00000371030	NM_178457.2	508	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS42894.1	1522	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCCCTTC	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Pro508Ala,ENST00000371030,;	1522	106	123	SUCCESS
ZNF831	128611	.	GRCh37	20	57768824	57768824	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	9	129	0	ENST00000371030.2:c.2750C>G	p.Pro917Arg	p.P917R	ENST00000371030	NM_178457.2	917	cCc/cGc	0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS42894.1	2750	MUTECT|MUSE	.	GCACCCCTCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	.	.	ENSP00000360069	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.13)	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,missense_variant,p.Pro917Arg,ENST00000371030,;	2750	130	133	SUCCESS
XIRP2	129446	.	GRCh37	2	168106358	168106358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	242	11	255	1	ENST00000409195.1:c.8456A>G	p.Glu2819Gly	p.E2819G	ENST00000409195	NM_152381.5	2819	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS42769.1	8456	MUTECT|MUSE	.	AAGTGAAGAAA	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.027)	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Glu2597Gly,ENST00000409273,;XIRP2,missense_variant,p.Glu2819Gly,ENST00000409195,;XIRP2,missense_variant,p.Glu2819Gly,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	8545	256	253	SUCCESS
DNAH7	56171	.	GRCh37	2	196788420	196788420	+	synonymous_variant	Silent	SNP	G	G	A	rs1277193304	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	204	83	245	0	ENST00000312428.6:c.3724C>T	p.Leu1242=	p.L1242=	ENST00000312428	NM_018897.2	1242	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS42794.1	3724	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGTACCA	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	.	.	ENSP00000311273	.	23/65	.	.	.	.	.	.	.	.	.	23/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,synonymous_variant,p.%3D,ENST00000312428,;	3825	245	288	SUCCESS
APOB	338	.	GRCh37	2	21236200	21236201	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	109	23	116	0	ENST00000233242.1:c.4047dup	p.Val1350SerfsTer45	p.V1350Sfs*45	ENST00000233242	NM_000384.2	1349	-/A	0	.	.	.	.	.	T	-/X	protein_coding	YES	CCDS1703.1	4047-4048	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCACTTGCA	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	insertion	APOB,frameshift_variant,p.Val1350SerfsTer45,ENST00000233242,;	4175-4176	116	132	SUCCESS
EPT1	0	.	GRCh37	2	26611924	26611924	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	31	129	0	ENST00000260585.7:c.1147C>A	p.Pro383Thr	p.P383T	ENST00000260585	NM_033505.2	383	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS46240.1	1147	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAACCAAAC	NONE	.	.	hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF33,PIRSF_domain:PIRSF015665	.	.	ENSP00000260585	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000260585	Transcript	.	.	ENSG00000138018	29361	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.517)	.	deleterious(0.04)	.	EPT1_HUMAN	EPT1	HGNC	G1UI38_HUMAN,C9JEZ2_HUMAN,C9J9I1_HUMAN	.	UPI00003CE422	SNV	EPT1,missense_variant,p.Pro383Thr,ENST00000260585,;EPT1,downstream_gene_variant,,ENST00000447170,;	1266	129	112	SUCCESS
SLC6A11	6538	.	GRCh37	3	10976791	10976791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	23	125	0	ENST00000254488.2:c.1652A>G	p.Tyr551Cys	p.Y551C	ENST00000254488	NM_014229.1	551	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS2602.1	1652	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTATGGCA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF124,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000254488	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000254488	Transcript	.	.	ENSG00000132164	11044	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	tolerated(0.11)	.	S6A11_HUMAN	SLC6A11	HGNC	Q8IYC9_HUMAN	.	UPI00001354A6	SNV	SLC6A11,missense_variant,p.Tyr551Cys,ENST00000254488,;SLC6A11,non_coding_transcript_exon_variant,,ENST00000464828,;	1718	125	117	SUCCESS
ARGFX	503582	.	GRCh37	3	121303907	121303907	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	14	58	0	ENST00000334384.3:c.364G>C	p.Val122Leu	p.V122L	ENST00000334384	NM_001012659.1	122	Gta/Cta	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS33834.1	364	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGTAAAG	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF134,hmmpanther:PTHR24329,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000335578	.	3/4	.	.	.	.	.	.	.	.	COSM375445	3/4	PASS	ENST00000334384	Transcript	.	.	ENSG00000186103	30146	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.377)	.	deleterious(0.04)	1	ARGFX_HUMAN	ARGFX	HGNC	.	.	UPI00004ED62C	SNV	ARGFX,missense_variant,p.Val122Leu,ENST00000334384,;	374	58	72	SUCCESS
DNAJC13	23317	.	GRCh37	3	132172975	132172975	+	synonymous_variant	Silent	SNP	A	A	G	.	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	281	69	371	1	ENST00000260818.6:c.906A>G	p.Gln302=	p.Q302=	ENST00000260818	NM_015268.3	302	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS33857.1	906	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAAGTACG	NONE	.	.	.	.	.	ENSP00000260818	.	9/56	.	.	.	.	.	.	.	.	COSM237309	9/56	PASS	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,synonymous_variant,p.%3D,ENST00000260818,;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;DNAJC13,upstream_gene_variant,,ENST00000471925,;	1154	372	350	SUCCESS
SLC2A2	6514	.	GRCh37	3	170725003	170725003	+	synonymous_variant	Silent	SNP	G	G	A	rs773878999	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	20	105	0	ENST00000314251.3:c.546C>T	p.Thr182=	p.T182=	ENST00000314251	NM_001278659.1	182	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS3215.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGGTTGG	NONE	byFrequency	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,PROSITE_patterns:PS00217,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473	.	.	ENSP00000323568	.	5/11	.	.	.	.	.	.	.	.	rs773878999	5/11	PASS	ENST00000314251	Transcript	.	.	ENSG00000163581	11006	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTR2_HUMAN	SLC2A2	HGNC	Q6PAU8_HUMAN,C9J0E8_HUMAN	.	UPI000004EC97	SNV	SLC2A2,synonymous_variant,p.%3D,ENST00000314251,;SLC2A2,synonymous_variant,p.%3D,ENST00000461867,;SLC2A2,synonymous_variant,p.%3D,ENST00000382808,;SLC2A2,3_prime_UTR_variant,,ENST00000469787,;SLC2A2,3_prime_UTR_variant,,ENST00000497642,;SLC2A2,non_coding_transcript_exon_variant,,ENST00000471379,;	626	105	121	SUCCESS
ECT2	1894	.	GRCh37	3	172473092	172473092	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs776600254	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	218	70	337	0	ENST00000392692.3:c.138G>C	p.Met46Ile	p.M46I	ENST00000392692	NM_001258315.1	46	atG/atC	0	.	.	.	.	.	C	M/I	protein_coding	YES	CCDS58860.1	138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGATGCCTCA	NONE	.	.	hmmpanther:PTHR16777	.	.	ENSP00000376457	.	3/25	.	.	.	.	.	.	.	.	rs776600254	3/25	PASS	ENST00000392692	Transcript	.	.	ENSG00000114346	3155	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(0.14)	.	ECT2_HUMAN	ECT2	HGNC	Q96SJ9_HUMAN,Q96J05_HUMAN,C9JTI2_HUMAN,C9JDV9_HUMAN	.	UPI00003DFD0A	SNV	ECT2,missense_variant,p.Met46Ile,ENST00000232458,;ECT2,missense_variant,p.Met46Ile,ENST00000427830,;ECT2,missense_variant,p.Met46Ile,ENST00000415665,;ECT2,missense_variant,p.Met46Ile,ENST00000441497,;ECT2,missense_variant,p.Met46Ile,ENST00000438041,;ECT2,missense_variant,p.Met45Ile,ENST00000417960,;ECT2,missense_variant,p.Met46Ile,ENST00000426894,;ECT2,missense_variant,p.Met46Ile,ENST00000366090,;ECT2,missense_variant,p.Met46Ile,ENST00000540509,;ECT2,missense_variant,p.Met45Ile,ENST00000428567,;ECT2,missense_variant,p.Met46Ile,ENST00000392692,;ECT2,downstream_gene_variant,,ENST00000366254,;	314	337	288	SUCCESS
SETD2	29072	.	GRCh37	3	47165806	47165806	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	20	104	0	ENST00000409792.3:c.320C>T	p.Pro107Leu	p.P107L	ENST00000409792	NM_014159.6	107	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS2749.2	320	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGGTACA	NONE	.	.	.	.	.	ENSP00000386759	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000409792	Transcript	.	.	ENSG00000181555	18420	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	deleterious_low_confidence(0)	.	SETD2_HUMAN	SETD2	HGNC	C9JG86_HUMAN	.	UPI00017E10FB	SNV	SETD2,missense_variant,p.Pro107Leu,ENST00000409792,;SETD2,missense_variant,p.Pro63Leu,ENST00000412450,;SETD2,upstream_gene_variant,,ENST00000445387,;SETD2,upstream_gene_variant,,ENST00000330022,;SETD2,upstream_gene_variant,,ENST00000431180,;	363	104	102	SUCCESS
IP6K1	9807	.	GRCh37	3	49785257	49785257	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	125	23	125	0	ENST00000321599.4:c.217del	p.Tyr73ThrfsTer19	p.Y73Tfs*19	ENST00000321599	NM_153273.3	73	Tac/ac	0	.	.	.	.	.	-	Y/X	protein_coding	YES	CCDS33760.1	217	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTGTATTCAG	NONE	.	.	Superfamily_domains:SSF56104,hmmpanther:PTHR12400:SF50,hmmpanther:PTHR12400	.	.	ENSP00000323780	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000321599	Transcript	.	.	ENSG00000176095	18360	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IP6K1_HUMAN	IP6K1	HGNC	.	.	UPI0000163944	deletion	IP6K1,frameshift_variant,p.Tyr73ThrfsTer19,ENST00000321599,;IP6K1,frameshift_variant,p.Tyr73ThrfsTer19,ENST00000468463,;IP6K1,intron_variant,,ENST00000460540,;IP6K1,intron_variant,,ENST00000395238,;IP6K1,non_coding_transcript_exon_variant,,ENST00000479464,;IP6K1,downstream_gene_variant,,ENST00000498149,;	519	125	148	SUCCESS
ZNF827	152485	.	GRCh37	4	146806895	146806895	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752683420	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	6	124	0	ENST00000508784.1:c.1682C>T	p.Ala561Val	p.A561V	ENST00000508784		561	gCg/gTg	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS34072.1	1682	MUTECT|MUSE	.	CTGACGCACTG	NONE	.	.	hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4	.	.	ENSP00000368761	.	4/15	.	.	.	.	.	.	.	.	rs752683420	4/15	PASS	ENST00000379448	Transcript	.	.	ENSG00000151612	27193	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.711)	.	deleterious(0.01)	.	ZN827_HUMAN	ZNF827	HGNC	.	.	UPI000049DFF1	SNV	ZNF827,missense_variant,p.Ala561Val,ENST00000508784,;ZNF827,missense_variant,p.Ala561Val,ENST00000379448,;ZNF827,missense_variant,p.Ala211Val,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000513840,;ZNF827,intron_variant,,ENST00000508995,;	1746	124	116	SUCCESS
ETFDH	2110	.	GRCh37	4	159627390	159627390	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	27	81	0	ENST00000511912.1:c.1335G>A	p.Trp445Ter	p.W445*	ENST00000511912	NM_004453.2	445	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS3800.1	1335	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGGAAAGA	NONE	.	.	Superfamily_domains:SSF51905,hmmpanther:PTHR10617,hmmpanther:PTHR10617:SF98	.	.	ENSP00000426638	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000511912	Transcript	1	.	ENSG00000171503	3483	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETFD_HUMAN	ETFDH	HGNC	D6RAD5_HUMAN,B4DEQ0_HUMAN	.	UPI000013EC48	SNV	ETFDH,stop_gained,p.Trp398Ter,ENST00000307738,;ETFDH,stop_gained,p.Trp445Ter,ENST00000511912,;PPID,downstream_gene_variant,,ENST00000307720,;PPID,downstream_gene_variant,,ENST00000507213,;ETFDH,non_coding_transcript_exon_variant,,ENST00000506422,;PPID,downstream_gene_variant,,ENST00000512699,;	1667	81	72	SUCCESS
SLCO6A1	133482	.	GRCh37	5	101815950	101815950	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	21	77	0	ENST00000379807.3:c.547C>G	p.Leu183Val	p.L183V	ENST00000379807	NM_173488.3	183	Ctt/Gtt	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS34206.1	547	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAAGTCCTA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11388:SF3,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Pfam_domain:PF03137,Superfamily_domains:SSF103473	.	.	ENSP00000421339	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000506729	Transcript	.	.	ENSG00000205359	23613	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	tolerated(0.22)	.	SO6A1_HUMAN	SLCO6A1	HGNC	H0Y8R6_HUMAN,D3DSZ4_HUMAN	.	UPI000020C392	SNV	SLCO6A1,missense_variant,p.Leu183Val,ENST00000379807,;SLCO6A1,missense_variant,p.Leu183Val,ENST00000513675,;SLCO6A1,missense_variant,p.Leu183Val,ENST00000379810,;SLCO6A1,missense_variant,p.Leu183Val,ENST00000506729,;SLCO6A1,missense_variant,p.Leu183Val,ENST00000389019,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,intron_variant,,ENST00000514551,;SLCO6A1,upstream_gene_variant,,ENST00000505739,;	719	77	80	SUCCESS
H2AFY	0	.	GRCh37	5	134670770	134670770	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149823680	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	156	44	205	0	ENST00000511689.1:c.1015G>A	p.Val339Met	p.V339M	ENST00000511689	NM_138610.2	339	Gtg/Atg	0	T:0	.	.	.	.	T	V/M	protein_coding	YES	CCDS4185.1	1015	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACGAAGT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51154,Gene3D:3.40.220.10,PIRSF_domain:PIRSF037942,Superfamily_domains:SSF52949	.	T:0.0005	ENSP00000423563	.	9/9	.	.	.	.	.	.	.	.	rs149823680	9/9	PASS	ENST00000511689	Transcript	.	.	ENSG00000113648	4740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	tolerated(0.07)	.	H2AY_HUMAN	H2AFY	HGNC	.	.	UPI00000723ED	SNV	H2AFY,missense_variant,p.Val339Met,ENST00000510038,;H2AFY,missense_variant,p.Val167Met,ENST00000423969,;H2AFY,missense_variant,p.Val338Met,ENST00000304332,;H2AFY,missense_variant,p.Val336Met,ENST00000312469,;H2AFY,missense_variant,p.Val339Met,ENST00000511689,;C5orf66,intron_variant,,ENST00000432382,;C5orf66,upstream_gene_variant,,ENST00000555438,;H2AFY,non_coding_transcript_exon_variant,,ENST00000451949,;H2AFY,non_coding_transcript_exon_variant,,ENST00000512507,;H2AFY,non_coding_transcript_exon_variant,,ENST00000360597,;C5orf66,intron_variant,,ENST00000513931,;H2AFY,3_prime_UTR_variant,,ENST00000506671,;H2AFY,non_coding_transcript_exon_variant,,ENST00000511494,;H2AFY,downstream_gene_variant,,ENST00000505827,;	1609	205	200	SUCCESS
FTH1P10	2502	.	GRCh37	5	17354070	17354070	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	30	172	0	ENST00000401830.3:n.664A>T		p.*222*	ENST00000401830				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGTTGGTC	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000511821	Transcript	.	.	ENSG00000248223	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CTD-2139B15.2	Clone_based_vega_gene	.	.	.	SNV	CTD-2139B15.2,non_coding_transcript_exon_variant,,ENST00000511821,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000401830,;FTH1P10,non_coding_transcript_exon_variant,,ENST00000430907,;	52	172	185	SUCCESS
MAN1A1	4121	.	GRCh37	6	119510970	119510970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	53	127	0	ENST00000368468.3:c.1405C>T	p.His469Tyr	p.H469Y	ENST00000368468	NM_005907.3	469	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS5122.1	1405	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTGCTCCA	NONE	.	.	hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF31,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225	.	.	ENSP00000357453	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000368468	Transcript	.	.	ENSG00000111885	6821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.723)	.	deleterious(0)	.	MA1A1_HUMAN	MAN1A1	HGNC	.	.	UPI000013D632	SNV	MAN1A1,missense_variant,p.His469Tyr,ENST00000368468,;	1847	127	123	SUCCESS
EEF1A1	1915	.	GRCh37	6	74229620	74229620	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	33	0	ENST00000309268.6:c.130A>G	p.Lys44Glu	p.K44E	ENST00000309268		44	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS4980.1	130	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTTCTCAA	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	1/7	.	.	.	.	.	.	.	.	COSM3995107	1/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.011)	.	deleterious_low_confidence(0.01)	1	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Lys44Glu,ENST00000356303,;EEF1A1,missense_variant,p.Lys44Glu,ENST00000455918,;EEF1A1,missense_variant,p.Lys44Glu,ENST00000309268,;EEF1A1,missense_variant,p.Lys44Glu,ENST00000316292,;EEF1A1,missense_variant,p.Lys44Glu,ENST00000331523,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;EEF1A1,upstream_gene_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;	1122	33	30	SUCCESS
COL12A1	1303	.	GRCh37	6	75904617	75904617	+	synonymous_variant	Silent	SNP	A	A	T	rs1341161177	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	35	68	0	ENST00000322507.8:c.120T>A	p.Thr40=	p.T40=	ENST00000322507	NM_004370.5	40	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS43482.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACAGTATT	NONE	.	.	PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000325146	.	3/66	.	.	.	.	.	.	.	.	.	3/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,synonymous_variant,p.%3D,ENST00000416123,;COL12A1,synonymous_variant,p.%3D,ENST00000322507,;COL12A1,synonymous_variant,p.%3D,ENST00000483888,;COL12A1,intron_variant,,ENST00000345356,;	430	68	87	SUCCESS
DOPEY1	0	.	GRCh37	6	83847837	83847837	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs145538359	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	91	0	ENST00000349129.2:c.4076A>G	p.Asn1359Ser	p.N1359S	ENST00000349129	NM_015018.3	1359	aAt/aGt	0	G:0.0002	.	.	.	.	G	N/S	protein_coding	YES	CCDS4996.1	4076	MUTECT|MUSE|VARSCANS	.	TCCCAATTTCA	NONE	byCluster	.	hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	.	G:0	ENSP00000195654	.	21/39	.	.	.	.	.	.	.	.	rs145538359	21/39	PASS	ENST00000349129	Transcript	.	.	ENSG00000083097	21194	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0)	.	tolerated(0.31)	.	DOP1_HUMAN	DOPEY1	HGNC	.	.	UPI00001C1574	SNV	DOPEY1,missense_variant,p.Asn1340Ser,ENST00000237163,;DOPEY1,missense_variant,p.Asn1350Ser,ENST00000369739,;DOPEY1,missense_variant,p.Asn1359Ser,ENST00000349129,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000493541,;	4336	91	110	SUCCESS
FUT9	10690	.	GRCh37	6	96651692	96651692	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	12	80	0	ENST00000302103.5:c.661G>C	p.Ala221Pro	p.A221P	ENST00000302103	NM_006581.3	221	Gca/Cca	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS5033.1	661	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGCATTT	NONE	.	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.722)	.	tolerated(0.07)	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,missense_variant,p.Ala221Pro,ENST00000302103,;	987	80	82	SUCCESS
ANKRD7	56311	.	GRCh37	7	117876954	117876954	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	16	122	0	ENST00000265224.4:c.686A>C	p.Asn229Thr	p.N229T	ENST00000265224	NM_019644.3	229	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS43638.1	686	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAATATGT	NONE	.	.	hmmpanther:PTHR24152,hmmpanther:PTHR24152:SF1	.	.	ENSP00000265224	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000265224	Transcript	.	.	ENSG00000106013	18588	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.015)	.	tolerated(0.28)	.	ANKR7_HUMAN	ANKRD7	HGNC	Q9UPM1_HUMAN	.	UPI0000E826A8	SNV	ANKRD7,missense_variant,p.Asn176Thr,ENST00000433239,;ANKRD7,missense_variant,p.Asn176Thr,ENST00000417525,;ANKRD7,missense_variant,p.Asn249Thr,ENST00000357099,;ANKRD7,missense_variant,p.Asn229Thr,ENST00000265224,;ANKRD7,downstream_gene_variant,,ENST00000486422,;ANKRD7,non_coding_transcript_exon_variant,,ENST00000477532,;ANKRD7,upstream_gene_variant,,ENST00000490445,;	841	122	123	SUCCESS
CPED1	79974	.	GRCh37	7	120782177	120782177	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	46	103	0	ENST00000310396.5:c.2037A>G	p.Thr679=	p.T679=	ENST00000310396	NM_024913.4	679	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS34739.1	2037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGCATG	NONE	.	.	hmmpanther:PTHR14776	.	.	ENSP00000309772	.	16/23	.	.	.	.	.	.	.	.	.	16/23	PASS	ENST00000310396	Transcript	.	.	ENSG00000106034	26159	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPED1_HUMAN	CPED1	HGNC	Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN	.	UPI000013C813	SNV	CPED1,synonymous_variant,p.%3D,ENST00000423795,;CPED1,synonymous_variant,p.%3D,ENST00000450913,;CPED1,synonymous_variant,p.%3D,ENST00000310396,;	2504	103	133	SUCCESS
ZNF479	90827	.	GRCh37	7	57188114	57188114	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	153	79	179	0	ENST00000331162.4:c.1008G>C	p.Trp336Cys	p.W336C	ENST00000331162	NM_033273.1	336	tgG/tgC	0	.	.	.	.	.	G	W/C	protein_coding	YES	CCDS43590.1	1008	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACCAGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF103,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.22)	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,missense_variant,p.Trp336Cys,ENST00000331162,;	1279	179	233	SUCCESS
PCLO	27445	.	GRCh37	7	82580196	82580196	+	synonymous_variant	Silent	SNP	C	C	T	rs777347173	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	39	1	ENST00000333891.9:c.9708G>A	p.Glu3236=	p.E3236=	ENST00000333891	NM_033026.5	3236	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS47630.1	9708	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCCACTCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	6/25	.	.	.	.	.	.	.	.	rs777347173	6/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,synonymous_variant,p.%3D,ENST00000333891,;PCLO,synonymous_variant,p.%3D,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	10046	40	52	SUCCESS
DCAF13	25879	.	GRCh37	8	104427710	104427710	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	14	106	0	ENST00000297579.5:c.492T>C	p.Asn164=	p.N164=	ENST00000297579	NM_015420.6	164	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS34934.1	492	MUTECT|MUSE|VARSCANS	.	GACAATTATGT	NONE	.	.	hmmpanther:PTHR22851:SF0,hmmpanther:PTHR22851,Superfamily_domains:SSF50978	.	.	ENSP00000297579	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000297579	Transcript	.	.	ENSG00000164934	24535	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DCA13_HUMAN	DCAF13	HGNC	.	.	UPI0000DBEF2A	SNV	DCAF13,synonymous_variant,p.%3D,ENST00000521971,;DCAF13,synonymous_variant,p.%3D,ENST00000297579,;DCAF13,synonymous_variant,p.%3D,ENST00000519682,;DCAF13,synonymous_variant,p.%3D,ENST00000521716,;SLC25A32,upstream_gene_variant,,ENST00000297578,;SLC25A32,upstream_gene_variant,,ENST00000543107,;DCAF13,non_coding_transcript_exon_variant,,ENST00000521999,;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,;SLC25A32,upstream_gene_variant,,ENST00000521645,;SLC25A32,upstream_gene_variant,,ENST00000523256,;SLC25A32,upstream_gene_variant,,ENST00000523866,;	769	106	143	SUCCESS
SQLE	6713	.	GRCh37	8	126033052	126033052	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	11	78	1	ENST00000265896.5:c.1471T>A	p.Cys491Ser	p.C491S	ENST00000265896	NM_003129.3	491	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS47918.1	1471	MUTECT|MUSE|VARSCANS	.	AAGCCTGTTTT	NONE	.	.	Superfamily_domains:SSF51905,Pfam_domain:PF08491,hmmpanther:PTHR10835	.	.	ENSP00000265896	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000265896	Transcript	.	.	ENSG00000104549	11279	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.975)	.	deleterious(0.01)	.	ERG1_HUMAN	SQLE	HGNC	Q9UNR6_HUMAN,H0YBN7_HUMAN,B4DHX0_HUMAN	.	UPI0000073EEE	SNV	SQLE,missense_variant,p.Cys143Ser,ENST00000518931,;SQLE,missense_variant,p.Cys491Ser,ENST00000265896,;SQLE,missense_variant,p.Cys396Ser,ENST00000523430,;KIAA0196,downstream_gene_variant,,ENST00000517845,;KIAA0196,downstream_gene_variant,,ENST00000318410,;SQLE,downstream_gene_variant,,ENST00000520493,;KIAA0196,downstream_gene_variant,,ENST00000519042,;SQLE,downstream_gene_variant,,ENST00000518604,;	2369	79	135	SUCCESS
ADAM2	2515	.	GRCh37	8	39695697	39695697	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765528383	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	12	144	0	ENST00000265708.4:c.8G>A	p.Arg3His	p.R3H	ENST00000265708	NM_001464.4	3	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34884.1	8	RADIA|MUTECT|MUSE|VARSCANS	.	AGACGCGCCAC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108	.	.	ENSP00000265708	.	1/21	.	.	.	.	.	.	.	.	rs765528383,COSM138680	1/21	PASS	ENST00000265708	Transcript	.	.	ENSG00000104755	198	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	0,1	.	.	benign(0.224)	.	tolerated(0.33)	0,1	ADAM2_HUMAN	ADAM2	HGNC	.	.	UPI00001254C2	SNV	ADAM2,missense_variant,p.Arg3His,ENST00000521880,;ADAM2,missense_variant,p.Arg3His,ENST00000265708,;ADAM2,missense_variant,p.Arg3His,ENST00000347580,;ADAM2,missense_variant,p.Arg3His,ENST00000379853,;ADAM2,non_coding_transcript_exon_variant,,ENST00000523181,;	112	144	118	SUCCESS
CYP7A1	1581	.	GRCh37	8	59404951	59404951	+	synonymous_variant	Silent	SNP	C	C	T	rs758271532	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	229	24	169	0	ENST00000301645.3:c.1176G>A	p.Gln392=	p.Q392=	ENST00000301645	NM_000780.3	392	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS6171.1	1176	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAACTGTGG	NONE	.	.	hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF1,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500625,Superfamily_domains:SSF48264,Prints_domain:PR00465	.	.	ENSP00000301645	.	5/6	.	.	.	.	.	.	.	.	rs758271532	5/6	PASS	ENST00000301645	Transcript	1	.	ENSG00000167910	2651	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CP7A1_HUMAN	CYP7A1	HGNC	.	.	UPI0000128214	SNV	CYP7A1,synonymous_variant,p.%3D,ENST00000301645,;	1314	169	254	SUCCESS
DECR1	1666	.	GRCh37	8	91029393	91029393	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	5	92	0	ENST00000220764.2:c.111A>T	p.Glu37Asp	p.E37D	ENST00000220764	NM_001359.1	37	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS6250.1	111	MUTECT|MUSE	.	ACTGAAGCTTT	NONE	.	.	hmmpanther:PTHR24315,hmmpanther:PTHR24315:SF2	.	.	ENSP00000220764	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000220764	Transcript	1	.	ENSG00000104325	2753	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.55)	.	DECR_HUMAN	DECR1	HGNC	Q7LDK6_HUMAN,E5RJD2_HUMAN	.	UPI000004C795	SNV	DECR1,missense_variant,p.Glu28Asp,ENST00000517761,;DECR1,missense_variant,p.Glu28Asp,ENST00000522161,;DECR1,missense_variant,p.Glu37Asp,ENST00000220764,;DECR1,missense_variant,p.Glu15Asp,ENST00000519410,;DECR1,5_prime_UTR_variant,,ENST00000520227,;DECR1,non_coding_transcript_exon_variant,,ENST00000521668,;DECR1,non_coding_transcript_exon_variant,,ENST00000519007,;DECR1,intron_variant,,ENST00000523447,;DECR1,upstream_gene_variant,,ENST00000524326,;DECR1,missense_variant,p.Glu37Asp,ENST00000518725,;DECR1,non_coding_transcript_exon_variant,,ENST00000522583,;DECR1,intron_variant,,ENST00000517314,;DECR1,intron_variant,,ENST00000519328,;DECR1,intron_variant,,ENST00000521603,;DECR1,intron_variant,,ENST00000517597,;	199	92	138	SUCCESS
RBM12B	389677	.	GRCh37	8	94747750	94747750	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770059077	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	20	78	0	ENST00000399300.2:c.889G>A	p.Glu297Lys	p.E297K	ENST00000399300	NM_203390.2	297	Gaa/Aaa	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS43755.1	889	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCGTCAA	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF14259,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28,PROSITE_profiles:PS50102	.	.	ENSP00000382239	.	3/3	.	.	.	.	.	.	.	.	rs770059077	3/3	PASS	ENST00000399300	Transcript	.	.	ENSG00000183808	32310	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(1)	.	RB12B_HUMAN	RBM12B	HGNC	E5RJW8_HUMAN,E5RJV8_HUMAN,E5RJ83_HUMAN,E5RHG1_HUMAN	.	UPI0000E9B14C	SNV	RBM12B,missense_variant,p.Glu297Lys,ENST00000399300,;RBM12B,missense_variant,p.Glu297Lys,ENST00000517700,;RBM12B,downstream_gene_variant,,ENST00000519109,;FAM92A1,downstream_gene_variant,,ENST00000518322,;RBM12B-AS1,upstream_gene_variant,,ENST00000391680,;RBM12B,downstream_gene_variant,,ENST00000518597,;RBM12B,downstream_gene_variant,,ENST00000520560,;RBM12B,downstream_gene_variant,,ENST00000521947,;RP11-10N23.4,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,;	1103	78	122	SUCCESS
KANK1	23189	.	GRCh37	9	711084	711084	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	29	109	0	ENST00000382297.2:c.318C>A	p.Phe106Leu	p.F106L	ENST00000382297	NM_001256877.1	106	ttC/ttA	0	.	.	.	.	.	A	F/L	protein_coding	YES	CCDS34976.1	318	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTCCTCAT	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.5)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Phe106Leu,ENST00000382303,;KANK1,missense_variant,p.Phe106Leu,ENST00000382297,;KANK1,5_prime_UTR_variant,,ENST00000382293,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	970	109	91	SUCCESS
VPS13A	23230	.	GRCh37	9	79971726	79971726	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	70	0	ENST00000360280.3:c.7749A>G	p.Glu2583=	p.E2583=	ENST00000360280	NM_033305.2	2583	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS6655.1	7749	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAATATAC	NONE	.	.	hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	.	.	ENSP00000353422	.	55/72	.	.	.	.	.	.	.	.	.	55/72	PASS	ENST00000360280	Transcript	.	.	ENSG00000197969	1908	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VP13A_HUMAN	VPS13A	HGNC	.	.	UPI0000210B7A	SNV	VPS13A,synonymous_variant,p.%3D,ENST00000357409,;VPS13A,synonymous_variant,p.%3D,ENST00000376634,;VPS13A,synonymous_variant,p.%3D,ENST00000376636,;VPS13A,synonymous_variant,p.%3D,ENST00000360280,;VPS13A,downstream_gene_variant,,ENST00000355766,;	8009	70	70	SUCCESS
ZXDA	7789	.	GRCh37	X	57936796	57936798	+	inframe_deletion	In_Frame_Del	DEL	CCG	CCG	-	rs757843135	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	CCG	CCG	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	13	0	ENST00000358697.4:c.57_59del	p.Gly20del	p.G20del	ENST00000358697	NM_007156.4	19	ggCGGt/ggt	0	.	.	.	.	.	-	GG/G	protein_coding	YES	CCDS14376.1	57-59	INDELOCATOR|VARSCANI	.	GGGATACCGCCGCC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF72,hmmpanther:PTHR19818	.	.	ENSP00000351530	.	1/1	.	.	.	.	.	.	.	.	rs757843135	1/1	PASS	ENST00000358697	Transcript	.	.	ENSG00000198205	13198	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZXDA_HUMAN	ZXDA	HGNC	.	.	UPI000013C494	deletion	ZXDA,inframe_deletion,p.Gly20del,ENST00000358697,;	270-272	13	43	SUCCESS
DLG3	1741	.	GRCh37	X	69712085	69712085	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	10	104	0	ENST00000374360.3:c.1649C>G	p.Thr550Ser	p.T550S	ENST00000374360	NM_021120.3	550	aCc/aGc	0	.	.	.	.	.	G	T/S	protein_coding	YES	CCDS14403.1	1649	MUTECT|MUSE	.	GGTGACCCCAC	NONE	.	.	PROSITE_profiles:PS50002,hmmpanther:PTHR23119:SF7,hmmpanther:PTHR23119,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF50044	.	.	ENSP00000363480	.	11/19	.	.	.	.	.	.	.	.	.	11/19	PASS	ENST00000374360	Transcript	.	.	ENSG00000082458	2902	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.407)	.	tolerated(0.17)	.	DLG3_HUMAN	DLG3	HGNC	Q59FY1_HUMAN	.	UPI000013C60C	SNV	DLG3,missense_variant,p.Thr67Ser,ENST00000542398,;DLG3,missense_variant,p.Thr213Ser,ENST00000374355,;DLG3,missense_variant,p.Thr568Ser,ENST00000194900,;DLG3,missense_variant,p.Thr550Ser,ENST00000374360,;DLG3,non_coding_transcript_exon_variant,,ENST00000489733,;DLG3,non_coding_transcript_exon_variant,,ENST00000494493,;DLG3,non_coding_transcript_exon_variant,,ENST00000466140,;DLG3,upstream_gene_variant,,ENST00000461646,;DLG3,non_coding_transcript_exon_variant,,ENST00000463252,;	1882	104	142	SUCCESS
SMNDC1	10285	.	GRCh37	10	112055050	112055050	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	22	107	0	ENST00000369592.1:c.515A>G	p.Glu172Gly	p.E172G	ENST00000369592		172	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS7565.1	515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCTCTCTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12664:SF2,hmmpanther:PTHR12664	.	.	ENSP00000358616	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000369603	Transcript	.	.	ENSG00000119953	16900	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.611)	.	deleterious(0)	.	SPF30_HUMAN	SMNDC1	HGNC	.	.	UPI000006D4F3	SNV	SMNDC1,missense_variant,p.Glu172Gly,ENST00000369603,;SMNDC1,missense_variant,p.Glu172Gly,ENST00000369592,;SMNDC1,non_coding_transcript_exon_variant,,ENST00000460483,;SMNDC1,downstream_gene_variant,,ENST00000471297,;SMNDC1,downstream_gene_variant,,ENST00000477763,;	719	107	96	SUCCESS
SEC61A2	55176	.	GRCh37	10	12198996	12198996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	36	185	1	ENST00000298428.9:c.707G>T	p.Arg236Leu	p.R236L	ENST00000298428	NM_018144.3	236	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS7088.1	707	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCGGCAGA	NONE	.	.	hmmpanther:PTHR10906,Pfam_domain:PF00344,Gene3D:1.10.3370.10,TIGRFAM_domain:TIGR00967,PIRSF_domain:PIRSF004557,Superfamily_domains:0043235	.	.	ENSP00000298428	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000298428	Transcript	.	.	ENSG00000065665	17702	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	S61A2_HUMAN	SEC61A2	HGNC	Q9NVQ7_HUMAN	.	UPI0000000B0A	SNV	SEC61A2,missense_variant,p.Arg236Leu,ENST00000304267,;SEC61A2,missense_variant,p.Arg236Leu,ENST00000298428,;SEC61A2,missense_variant,p.Arg148Leu,ENST00000441368,;SEC61A2,missense_variant,p.Arg118Leu,ENST00000419021,;SEC61A2,missense_variant,p.Arg214Leu,ENST00000379033,;SEC61A2,missense_variant,p.Arg236Leu,ENST00000379020,;SEC61A2,intron_variant,,ENST00000418772,;SEC61A2,downstream_gene_variant,,ENST00000379017,;SEC61A2,downstream_gene_variant,,ENST00000379051,;SEC61A2,non_coding_transcript_exon_variant,,ENST00000495368,;SEC61A2,upstream_gene_variant,,ENST00000466451,;SEC61A2,missense_variant,p.Arg236Leu,ENST00000475268,;SEC61A2,3_prime_UTR_variant,,ENST00000472221,;	796	186	137	SUCCESS
TUBGCP2	10844	.	GRCh37	10	135101696	135101696	+	synonymous_variant	Silent	SNP	C	C	T	rs762368718	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	5	101	0	ENST00000252936.3:c.1659G>A	p.Ala553=	p.A553=	ENST00000252936		553	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS58105.1	1743	MUTECT|MUSE	.	AGGAGCGCTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF13,Pfam_domain:PF04130	.	.	ENSP00000446093	.	11/18	.	.	.	.	.	.	.	.	rs762368718	11/18	PASS	ENST00000543663	Transcript	.	.	ENSG00000130640	18599	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GCP2_HUMAN	TUBGCP2	HGNC	B3KTU7_HUMAN	.	UPI00020651C0	SNV	TUBGCP2,synonymous_variant,p.%3D,ENST00000252936,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368562,;TUBGCP2,synonymous_variant,p.%3D,ENST00000417178,;TUBGCP2,synonymous_variant,p.%3D,ENST00000368563,;TUBGCP2,synonymous_variant,p.%3D,ENST00000543663,;TUBGCP2,synonymous_variant,p.%3D,ENST00000482278,;	1783	101	83	SUCCESS
PPP1R3C	5507	.	GRCh37	10	93390285	93390285	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	141	0	ENST00000238994.5:c.353A>C	p.Asp118Ala	p.D118A	ENST00000238994	NM_005398.5	118	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS7416.1	353	MUTECT|MUSE	.	TAAGGTCCAAG	NONE	.	.	hmmpanther:PTHR12307:SF4,hmmpanther:PTHR12307,PIRSF_domain:PIRSF500813,PIRSF_domain:PIRSF038207	.	.	ENSP00000238994	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000238994	Transcript	.	.	ENSG00000119938	9293	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.802)	.	deleterious(0.01)	.	PPR3C_HUMAN	PPP1R3C	HGNC	B4DRR5_HUMAN	.	UPI000006EFF1	SNV	PPP1R3C,missense_variant,p.Asp118Ala,ENST00000238994,;	438	141	114	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120280158	120280158	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	70	0	ENST00000397843.2:c.198T>C		p.X66_splice	ENST00000397843	NM_015313.2	66	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS41727.1	198	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATGGTAA	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8	.	.	ENSP00000380942	.	4/41	.	.	.	.	.	.	.	.	.	4/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,synonymous_variant,p.%3D,ENST00000397843,;ARHGEF12,splice_region_variant,,ENST00000532993,;ARHGEF12,intron_variant,,ENST00000356641,;ARHGEF12,splice_region_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000530388,;	364	70	68	SUCCESS
ABCC8	6833	.	GRCh37	11	17496572	17496572	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	31	88	0	ENST00000389817.3:c.151T>C	p.Trp51Arg	p.W51R	ENST00000389817		51	Tgg/Cgg	0	.	.	.	.	.	G	W/R	protein_coding	YES	CCDS31437.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCATCCTG	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR24223:SF187,hmmpanther:PTHR24223,Prints_domain:PR01092	.	.	ENSP00000374467	.	2/39	.	.	.	.	.	.	.	.	.	2/39	PASS	ENST00000389817	Transcript	.	.	ENSG00000006071	59	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	ABCC8_HUMAN	ABCC8	HGNC	.	.	UPI0000DBEF32	SNV	ABCC8,missense_variant,p.Trp51Arg,ENST00000389817,;ABCC8,missense_variant,p.Trp51Arg,ENST00000302539,;ABCC8,missense_variant,p.Trp51Arg,ENST00000527905,;ABCC8,splice_region_variant,,ENST00000532728,;	220	88	98	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33628362	33628362	+	synonymous_variant	Silent	SNP	C	C	T	rs375293606	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	108	0	ENST00000321505.4:c.4164C>T	p.Asn1388=	p.N1388=	ENST00000321505		1388	aaC/aaT	0	T:0.0012	T:0	.	T:0.0014	.	T	N	protein_coding	YES	CCDS44565.2	4164	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACGGCGA	NONE	byCluster|by1000G	.	Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	T:0	T:0.0001	ENSP00000315295	T:0	13/20	.	.	.	.	.	.	.	.	rs375293606,COSM256431	13/20	PASS	ENST00000321505	Transcript	.	T:0.0002	ENSG00000110427	24836	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	T:0	.	0,1	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,synonymous_variant,p.%3D,ENST00000321505,;KIAA1549L,synonymous_variant,p.%3D,ENST00000526400,;KIAA1549L,synonymous_variant,p.%3D,ENST00000389726,;	4344	108	75	SUCCESS
OR5M3	219482	.	GRCh37	11	56237304	56237304	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	65	211	0	ENST00000312240.2:c.670C>T	p.Leu224=	p.L224=	ENST00000312240	NM_001004742.2	224	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31532.1	670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCAGAATGG	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000312208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312240	Transcript	.	.	ENSG00000174937	14806	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5M3_HUMAN	OR5M3	HGNC	.	.	UPI0000041BAA	SNV	OR5M3,synonymous_variant,p.%3D,ENST00000312240,;	711	211	182	SUCCESS
SLC43A1	8501	.	GRCh37	11	57258721	57258721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	35	121	0	ENST00000278426.3:c.1169A>G	p.Gln390Arg	p.Q390R	ENST00000278426	NM_003627.5	390	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS7958.1	1169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCTGAGTT	NONE	.	.	hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF0,Pfam_domain:PF07690	.	.	ENSP00000278426	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000278426	Transcript	.	.	ENSG00000149150	9225	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.16)	.	LAT3_HUMAN	SLC43A1	HGNC	E9PJT8_HUMAN,B3KNL1_HUMAN	.	UPI0000071F2B	SNV	SLC43A1,missense_variant,p.Gln390Arg,ENST00000528450,;SLC43A1,missense_variant,p.Gln390Arg,ENST00000278426,;SLC43A1,intron_variant,,ENST00000525764,;SLC43A1,downstream_gene_variant,,ENST00000533066,;SLC43A1,downstream_gene_variant,,ENST00000533515,;SLC43A1,3_prime_UTR_variant,,ENST00000534298,;SLC43A1,downstream_gene_variant,,ENST00000530159,;SLC43A1,downstream_gene_variant,,ENST00000529452,;	1525	121	109	SUCCESS
MS4A5	64232	.	GRCh37	11	60197289	60197289	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	23	80	0	ENST00000300190.2:c.142A>G	p.Lys48Glu	p.K48E	ENST00000300190	NM_023945.2	48	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS7987.1	142	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGAAAATC	BUFFER|p.G51E|c.152G>A|3	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF54	.	.	ENSP00000300190	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000300190	Transcript	.	.	ENSG00000166930	13374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	deleterious(0.03)	.	MS4A5_HUMAN	MS4A5	HGNC	.	.	UPI0000043670	SNV	MS4A5,missense_variant,p.Lys15Glu,ENST00000528093,;MS4A5,missense_variant,p.Lys22Glu,ENST00000528905,;MS4A5,missense_variant,p.Lys48Glu,ENST00000300190,;MS4A5,non_coding_transcript_exon_variant,,ENST00000534071,;MS4A5,missense_variant,p.Lys48Glu,ENST00000533885,;MS4A5,missense_variant,p.Lys48Glu,ENST00000531403,;	228	80	70	SUCCESS
RCOR2	283248	.	GRCh37	11	63680390	63680390	+	synonymous_variant	Silent	SNP	G	G	A	rs1565160165	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	95	0	ENST00000301459.4:c.921C>T	p.Ser307=	p.S307=	ENST00000301459	NM_173587.3	307	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS8052.1	921	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCTGCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF12	.	.	ENSP00000301459	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000301459	Transcript	.	.	ENSG00000167771	27455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCOR2_HUMAN	RCOR2	HGNC	.	.	UPI000016194C	SNV	RCOR2,synonymous_variant,p.%3D,ENST00000301459,;MARK2,downstream_gene_variant,,ENST00000509502,;MARK2,downstream_gene_variant,,ENST00000315032,;MARK2,downstream_gene_variant,,ENST00000502399,;MARK2,downstream_gene_variant,,ENST00000425897,;MARK2,downstream_gene_variant,,ENST00000361128,;MARK2,downstream_gene_variant,,ENST00000408948,;MARK2,downstream_gene_variant,,ENST00000402010,;MARK2,downstream_gene_variant,,ENST00000377810,;MARK2,downstream_gene_variant,,ENST00000413835,;MARK2,downstream_gene_variant,,ENST00000513765,;MARK2,downstream_gene_variant,,ENST00000508192,;MARK2,downstream_gene_variant,,ENST00000377809,;MARK2,downstream_gene_variant,,ENST00000350490,;RCOR2,upstream_gene_variant,,ENST00000473926,;RCOR2,non_coding_transcript_exon_variant,,ENST00000489217,;	1309	95	68	SUCCESS
RPS6KA4	8986	.	GRCh37	11	64137353	64137353	+	synonymous_variant	Silent	SNP	G	G	A	rs772102291	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	71	0	ENST00000334205.4:c.1785G>A	p.Leu595=	p.L595=	ENST00000334205	NM_003942.2	595	ctG/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS8073.1	1785	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTGGGCGT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF41,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	.	.	ENSP00000333896	.	14/17	.	.	.	.	.	.	.	.	rs772102291	14/17	PASS	ENST00000334205	Transcript	.	.	ENSG00000162302	10433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KS6A4_HUMAN	RPS6KA4	HGNC	A0PJF8_HUMAN	.	UPI000006F835	SNV	RPS6KA4,synonymous_variant,p.%3D,ENST00000334205,;RPS6KA4,synonymous_variant,p.%3D,ENST00000528057,;RPS6KA4,synonymous_variant,p.%3D,ENST00000530504,;RPS6KA4,intron_variant,,ENST00000294261,;MIR1237,downstream_gene_variant,,ENST00000408346,;RPS6KA4,3_prime_UTR_variant,,ENST00000528355,;RPS6KA4,downstream_gene_variant,,ENST00000532885,;	1850	71	55	SUCCESS
GPR152	390212	.	GRCh37	11	67220107	67220107	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs781177395	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	58	171	0	ENST00000312457.2:c.89G>C	p.Gly30Ala	p.G30A	ENST00000312457	NM_206997.1	30	gGc/gCc	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS8165.1	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCCACCT	NONE	.	.	hmmpanther:PTHR11334:SF1,hmmpanther:PTHR11334,Gene3D:1.20.1070.10	.	.	ENSP00000310255	.	1/1	.	.	.	.	.	.	.	.	rs781177395	1/1	PASS	ENST00000312457	Transcript	.	.	ENSG00000175514	23622	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	tolerated(0.06)	.	GP152_HUMAN	GPR152	HGNC	.	.	UPI000003B364	SNV	GPR152,missense_variant,p.Gly30Ala,ENST00000312457,;CABP4,5_prime_UTR_variant,,ENST00000438189,;CABP4,upstream_gene_variant,,ENST00000325656,;CABP4,non_coding_transcript_exon_variant,,ENST00000542025,;CABP4,non_coding_transcript_exon_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,non_coding_transcript_exon_variant,,ENST00000545040,;CABP4,upstream_gene_variant,,ENST00000545777,;	94	171	204	SUCCESS
LRRC32	2615	.	GRCh37	11	76372166	76372166	+	synonymous_variant	Silent	SNP	C	C	T	rs1439220821	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	49	0	ENST00000260061.5:c.471G>A	p.Ala157=	p.A157=	ENST00000260061	NM_001128922.1	157	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS8245.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCCGCCAG	BUFFER|p.N159K|c.477C>A|3	.	.	Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24365:SF237,hmmpanther:PTHR24365,PROSITE_profiles:PS51450	.	.	ENSP00000384126	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000407242	Transcript	.	.	ENSG00000137507	4161	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC32_HUMAN	LRRC32	HGNC	C9JYU3_HUMAN	.	UPI000012B0DF	SNV	LRRC32,synonymous_variant,p.%3D,ENST00000260061,;LRRC32,synonymous_variant,p.%3D,ENST00000407242,;LRRC32,synonymous_variant,p.%3D,ENST00000421973,;LRRC32,synonymous_variant,p.%3D,ENST00000404995,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	714	49	32	SUCCESS
OR5P3	120066	.	GRCh37	11	7847513	7847513	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	58	0	ENST00000328375.1:c.7A>G	p.Thr3Ala	p.T3A	ENST00000328375	NM_153445.1	3	Act/Gct	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS7783.1	7	RADIA|MUTECT|MUSE	.	TCCAGTCCCCA	NONE	.	.	hmmpanther:PTHR26452:SF90,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000332068	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328375	Transcript	.	.	ENSG00000182334	14784	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.003)	.	tolerated(0.84)	.	OR5P3_HUMAN	OR5P3	HGNC	.	.	UPI000004B1F2	SNV	OR5P3,missense_variant,p.Thr3Ala,ENST00000328375,;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	7	58	59	SUCCESS
DNAH10	196385	.	GRCh37	12	124358197	124358197	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	32	127	0	ENST00000409039.3:c.7524T>C	p.Thr2508=	p.T2508=	ENST00000409039	NM_207437.3	2508	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS9255.2	7524	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACTTACGG	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000386770	.	45/78	.	.	.	.	.	.	.	.	.	45/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,synonymous_variant,p.%3D,ENST00000409039,;DNAH10,intron_variant,,ENST00000497783,;	7549	127	92	SUCCESS
DNAH10	196385	.	GRCh37	12	124413833	124413833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	78	1	ENST00000409039.3:c.11964G>T	p.Glu3988Asp	p.E3988D	ENST00000409039	NM_207437.3	3988	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS9255.2	11964	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGAGCCACC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000386770	.	70/78	.	.	.	.	.	.	.	.	.	70/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Glu3988Asp,ENST00000409039,;DNAH10OS,3_prime_UTR_variant,,ENST00000514254,;RP11-380L11.4,upstream_gene_variant,,ENST00000602952,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,upstream_gene_variant,,ENST00000538983,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,non_coding_transcript_exon_variant,,ENST00000545078,;	11989	79	81	SUCCESS
DNAH10	196385	.	GRCh37	12	124413834	124413834	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1474327028	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	79	0	ENST00000409039.3:c.11965C>T	p.Pro3989Ser	p.P3989S	ENST00000409039	NM_207437.3	3989	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS9255.2	11965	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGAGCCACCC	NONE	.	.	hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000386770	.	70/78	.	.	.	.	.	.	.	.	.	70/78	PASS	ENST00000409039	Transcript	.	.	ENSG00000197653	2941	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	.	.	DYH10_HUMAN	DNAH10	HGNC	.	.	UPI00014F7B89	SNV	DNAH10,missense_variant,p.Pro3989Ser,ENST00000409039,;DNAH10OS,3_prime_UTR_variant,,ENST00000514254,;RP11-380L11.4,upstream_gene_variant,,ENST00000602952,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,upstream_gene_variant,,ENST00000538983,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,non_coding_transcript_exon_variant,,ENST00000545078,;	11990	79	79	SUCCESS
PDZRN4	29951	.	GRCh37	12	41961651	41961651	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	89	0	ENST00000402685.2:c.1534G>T	p.Glu512Ter	p.E512*	ENST00000402685	NM_001164595.1	512	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS53777.1	1534	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGGAAGAA	NONE	.	.	hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,Low_complexity_(Seg):seg	.	.	ENSP00000384197	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000402685	Transcript	.	.	ENSG00000165966	30552	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZRN4_HUMAN	PDZRN4	HGNC	B3KT02_HUMAN	.	UPI0000D621D0	SNV	PDZRN4,stop_gained,p.Glu252Ter,ENST00000298919,;PDZRN4,stop_gained,p.Glu254Ter,ENST00000539469,;PDZRN4,stop_gained,p.Glu512Ter,ENST00000402685,;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	1542	89	87	SUCCESS
ARID2	196528	.	GRCh37	12	46230548	46230548	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	59	219	0	ENST00000334344.6:c.797G>A	p.Trp266Ter	p.W266*	ENST00000334344	NM_152641.2	266	tGg/tAg	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS31783.1	797	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGGGAGT	NONE	.	.	hmmpanther:PTHR22970:SF14,hmmpanther:PTHR22970,Superfamily_domains:SSF48371	.	.	ENSP00000335044	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000334344	Transcript	.	.	ENSG00000189079	18037	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARID2_HUMAN	ARID2	HGNC	Q96SQ4_HUMAN,F8WCU9_HUMAN	.	UPI00001D7973	SNV	ARID2,stop_gained,p.Trp266Ter,ENST00000334344,;ARID2,stop_gained,p.Trp117Ter,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000444670,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000480128,;	969	219	200	SUCCESS
H1FNT	0	.	GRCh37	12	48723425	48723425	+	synonymous_variant	Silent	SNP	C	C	T	rs372377328	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	36	125	0	ENST00000335017.1:c.351C>T	p.Ala117=	p.A117=	ENST00000335017	NM_181788.1	117	gcC/gcT	0	T:0	.	.	.	.	T	A	protein_coding	YES	CCDS8762.1	351	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGGCTA	NONE	byCluster	.	hmmpanther:PTHR11467:SF14,hmmpanther:PTHR11467	.	T:0.0002	ENSP00000334805	.	1/1	.	.	.	.	.	.	.	.	rs372377328	1/1	PASS	ENST00000335017	Transcript	.	.	ENSG00000187166	24893	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H1FNT_HUMAN	H1FNT	HGNC	.	.	UPI00001AA15C	SNV	H1FNT,synonymous_variant,p.%3D,ENST00000335017,;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	663	125	130	SUCCESS
KRT4	3851	.	GRCh37	12	53208127	53208127	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	46	0	ENST00000293774.4:c.-63G>A		p.*21*	ENST00000293774				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41787.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCCAGGG	NONE	.	.	.	.	.	ENSP00000448220	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000551956	Transcript	.	.	ENSG00000170477	6441	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C4_HUMAN	KRT4	HGNC	Q9UEK9_HUMAN	.	UPI00001AEBB1	SNV	KRT4,5_prime_UTR_variant,,ENST00000293774,;KRT4,5_prime_UTR_variant,,ENST00000551956,;KRT4,upstream_gene_variant,,ENST00000458244,;KRT4,upstream_gene_variant,,ENST00000548097,;KRT4,upstream_gene_variant,,ENST00000551436,;KRT4,upstream_gene_variant,,ENST00000549295,;KRT4,upstream_gene_variant,,ENST00000552668,;	209	46	46	SUCCESS
GDF11	10220	.	GRCh37	12	56142532	56142532	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	89	0	ENST00000257868.5:c.608T>G	p.Leu203Arg	p.L203R	ENST00000257868	NM_005811.3	203	cTa/cGa	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS8891.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCTAACTG	NONE	.	.	Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF140	.	.	ENSP00000257868	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000257868	Transcript	.	.	ENSG00000135414	4216	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	tolerated(0.13)	.	GDF11_HUMAN	GDF11	HGNC	.	.	UPI000004C158	SNV	GDF11,missense_variant,p.Leu176Arg,ENST00000546799,;GDF11,missense_variant,p.Leu203Arg,ENST00000257868,;SARNP,downstream_gene_variant,,ENST00000444631,;SARNP,downstream_gene_variant,,ENST00000552884,;SARNP,downstream_gene_variant,,ENST00000546604,;	645	89	67	SUCCESS
TIMELESS	8914	.	GRCh37	12	56812013	56812013	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	100	0	ENST00000553532.1:c.3359G>A	p.Gly1120Asp	p.G1120D	ENST00000553532		1120	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS8918.1	3359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCCTTGC	NONE	.	.	Pfam_domain:PF05029,hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	.	.	ENSP00000450607	.	27/29	.	.	.	.	.	.	.	.	.	27/29	PASS	ENST00000553532	Transcript	.	.	ENSG00000111602	11813	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.59)	.	TIM_HUMAN	TIMELESS	HGNC	.	.	UPI000013C8EA	SNV	TIMELESS,missense_variant,p.Gly1120Asp,ENST00000553532,;TIMELESS,missense_variant,p.Gly617Asp,ENST00000554616,;TIMELESS,missense_variant,p.Gly1119Asp,ENST00000229201,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,downstream_gene_variant,,ENST00000553314,;TIMELESS,downstream_gene_variant,,ENST00000555808,;	3510	100	79	SUCCESS
CD163	9332	.	GRCh37	12	7639354	7639354	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	109	0	ENST00000359156.4:c.2199G>A	p.Glu733=	p.E733=	ENST00000359156	NM_004244.5	733	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS8578.1	2199	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATCTCTAC	NONE	.	.	PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,PROSITE_patterns:PS00420,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	.	.	ENSP00000352071	.	10/17	.	.	.	.	.	.	.	.	.	10/17	PASS	ENST00000359156	Transcript	.	.	ENSG00000177575	1631	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C163A_HUMAN	CD163	HGNC	.	.	UPI00004565CC	SNV	CD163,synonymous_variant,p.%3D,ENST00000541972,;CD163,synonymous_variant,p.%3D,ENST00000359156,;CD163,synonymous_variant,p.%3D,ENST00000396620,;CD163,synonymous_variant,p.%3D,ENST00000432237,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,upstream_gene_variant,,ENST00000538840,;	2402	109	75	SUCCESS
FLT3	2322	.	GRCh37	13	28601301	28601301	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	5	121	0	ENST00000241453.7:c.2131C>T	p.His711Tyr	p.H711Y	ENST00000241453	NM_004119.2	711	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS31953.1	2131	MUTECT|MUSE	.	CCTGTGAAATT	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,PIRSF_domain:PIRSF000615,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF278,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	.	.	ENSP00000241453	.	17/24	.	.	.	.	.	.	.	.	.	17/24	PASS	ENST00000241453	Transcript	.	.	ENSG00000122025	3765	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.6)	.	tolerated(0.07)	.	FLT3_HUMAN	FLT3	HGNC	.	.	UPI00001FC90B	SNV	FLT3,missense_variant,p.His711Tyr,ENST00000241453,;FLT3,missense_variant,p.His711Tyr,ENST00000537084,;FLT3,missense_variant,p.His711Tyr,ENST00000380982,;FLT3,missense_variant,p.His711Tyr,ENST00000380987,;	2213	121	112	SUCCESS
AHNAK2	113146	.	GRCh37	14	105409536	105409536	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	55	232	0	ENST00000333244.5:c.12252G>T	p.Lys4084Asn	p.K4084N	ENST00000333244	NM_138420.2	4084	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS45177.1	12252	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCCTTGGG	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Lys4084Asn,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	12372	232	198	SUCCESS
OR4N5	390437	.	GRCh37	14	20612126	20612126	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1208613363	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	25	120	0	ENST00000333629.1:c.232G>T	p.Val78Phe	p.V78F	ENST00000333629	NM_001004724.1	78	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS32031.1	232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGTTCCC	BUFFER|p.P79S|c.235C>T|3	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000332110	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333629	Transcript	.	.	ENSG00000184394	15358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.089)	.	deleterious(0.01)	.	OR4N5_HUMAN	OR4N5	HGNC	.	.	UPI0000041C40	SNV	OR4N5,missense_variant,p.Val78Phe,ENST00000333629,;RNA5SP381,downstream_gene_variant,,ENST00000516076,;	232	121	112	SUCCESS
MYH7	4625	.	GRCh37	14	23884310	23884310	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs730880819	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	34	0	ENST00000355349.3:c.5453G>C	p.Arg1818Pro	p.R1818P	ENST00000355349	NM_000257.2	1818	cGg/cCg	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS9601.1	5453	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	uncertain_significance	GCACCCGCGCT	BUFFER|p.A1817A|c.5451G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF279,hmmpanther:PTHR13140,Pfam_domain:PF01576	.	.	ENSP00000347507	.	37/40	.	.	.	.	.	.	.	.	rs730880819	37/40	PASS	ENST00000355349	Transcript	.	.	ENSG00000092054	7577	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.996)	.	deleterious(0)	.	MYH7_HUMAN	MYH7	HGNC	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN	.	UPI000014019B	SNV	MYH7,missense_variant,p.Arg1818Pro,ENST00000355349,;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,upstream_gene_variant,,ENST00000557368,;	5616	34	41	SUCCESS
SFTA3	253970	.	GRCh37	14	36943085	36943085	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	62	212	0	ENST00000518529.2:c.263T>A	p.Met88Lys	p.M88K	ENST00000518529	NM_001101341.1	88	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS45097.1	263	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACATCTGA	NONE	.	.	.	.	.	ENSP00000428331	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000518529	Transcript	.	.	ENSG00000229415	18387	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious_low_confidence(0.04)	.	SFTA3_HUMAN	SFTA3	HGNC	.	.	UPI0000252004	SNV	SFTA3,missense_variant,p.Met88Lys,ENST00000518529,;RP11-896J10.3,splice_region_variant,,ENST00000521945,;SFTA3,downstream_gene_variant,,ENST00000521380,;SFTA3,downstream_gene_variant,,ENST00000518987,;SFTA3,splice_region_variant,,ENST00000519052,;SFTA3,splice_region_variant,,ENST00000518002,;SFTA3,splice_region_variant,,ENST00000521114,;SFTA3,downstream_gene_variant,,ENST00000518446,;SFTA3,downstream_gene_variant,,ENST00000524122,;SFTA3,downstream_gene_variant,,ENST00000418548,;	939	212	202	SUCCESS
KCNH5	27133	.	GRCh37	14	63511879	63511879	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	35	0	ENST00000322893.7:c.26T>C	p.Val9Ala	p.V9A	ENST00000322893	NM_139318.4	9	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS9756.1	26	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCACCAGC	NONE	.	.	hmmpanther:PTHR10217:SF376,hmmpanther:PTHR10217	.	.	ENSP00000321427	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000322893	Transcript	.	.	ENSG00000140015	6254	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.097)	.	deleterious(0)	.	KCNH5_HUMAN	KCNH5	HGNC	.	.	UPI0000039E2D	SNV	KCNH5,missense_variant,p.Val9Ala,ENST00000322893,;KCNH5,missense_variant,p.Val9Ala,ENST00000420622,;KCNH5,intron_variant,,ENST00000394968,;KCNH5,intron_variant,,ENST00000394964,;	295	35	32	SUCCESS
SYNE2	23224	.	GRCh37	14	64608713	64608713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	61	278	0	ENST00000344113.4:c.15213G>T	p.Trp5071Cys	p.W5071C	ENST00000344113	NM_015180.4	5071	tgG/tgT	0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS9761.2	15213	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGATGAA	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	82/116	.	.	.	.	.	.	.	.	.	82/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Trp4988Cys,ENST00000554584,;SYNE2,missense_variant,p.Trp1456Cys,ENST00000394768,;SYNE2,missense_variant,p.Trp5071Cys,ENST00000344113,;SYNE2,missense_variant,p.Trp1456Cys,ENST00000357395,;SYNE2,missense_variant,p.Trp5071Cys,ENST00000358025,;SYNE2,missense_variant,p.Trp1705Cys,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,missense_variant,p.Trp33Cys,ENST00000555612,;	15443	278	216	SUCCESS
GABPB1	2553	.	GRCh37	15	50578211	50578211	+	intron_variant	Intron	SNP	T	T	G	rs776534214	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	73	0	ENST00000220429.8:c.1035+54A>C		p.*345*	ENST00000220429				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32239.1	.	RADIA|MUTECT|MUSE	.	AAAAATTGAAT	NONE	byFrequency	.	.	.	.	ENSP00000220429	.	.	.	.	.	.	.	.	.	.	rs776534214	.	PASS	ENST00000220429	Transcript	.	.	ENSG00000104064	4074	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GABP1_HUMAN	GABPB1	HGNC	H0YNZ0_HUMAN,F5H7I4_HUMAN	.	UPI000012AFB3	SNV	GABPB1,3_prime_UTR_variant,,ENST00000560825,;GABPB1,3_prime_UTR_variant,,ENST00000429662,;GABPB1,3_prime_UTR_variant,,ENST00000359031,;GABPB1,3_prime_UTR_variant,,ENST00000396464,;GABPB1,intron_variant,,ENST00000380877,;GABPB1,intron_variant,,ENST00000220429,;GABPB1,intron_variant,,ENST00000543881,;GABPB1,intron_variant,,ENST00000561010,;	.	73	67	SUCCESS
GABPB1	2553	.	GRCh37	15	50578220	50578220	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	87	0	ENST00000220429.8:c.1035+45A>G		p.*345*	ENST00000220429				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32239.1	.	RADIA|MUTECT|MUSE	.	ATTTATTTTGG	NONE	.	.	.	.	.	ENSP00000220429	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000220429	Transcript	.	.	ENSG00000104064	4074	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GABP1_HUMAN	GABPB1	HGNC	H0YNZ0_HUMAN,F5H7I4_HUMAN	.	UPI000012AFB3	SNV	GABPB1,synonymous_variant,p.%3D,ENST00000560825,;GABPB1,synonymous_variant,p.%3D,ENST00000429662,;GABPB1,synonymous_variant,p.%3D,ENST00000359031,;GABPB1,synonymous_variant,p.%3D,ENST00000396464,;GABPB1,intron_variant,,ENST00000380877,;GABPB1,intron_variant,,ENST00000220429,;GABPB1,intron_variant,,ENST00000543881,;GABPB1,intron_variant,,ENST00000561010,;	.	87	80	SUCCESS
TLE3	7090	.	GRCh37	15	70366931	70366931	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	51	0	ENST00000558939.1:c.313G>A	p.Ala105Thr	p.A105T	ENST00000558939	NM_001282979.1	105	Gcg/Acg	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45293.1	313	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCGCCACCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10814,Pfam_domain:PF03920	.	.	ENSP00000452871	.	6/20	.	.	.	.	.	.	.	.	COSM964447,COSM1588104	6/20	PASS	ENST00000558939	Transcript	.	.	ENSG00000140332	11839	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.999)	.	tolerated(0.27)	1,1	TLE3_HUMAN	TLE3	HGNC	H0YNT2_HUMAN	.	UPI000013703A	SNV	TLE3,missense_variant,p.Ala111Thr,ENST00000558201,;TLE3,missense_variant,p.Ala39Thr,ENST00000539550,;TLE3,missense_variant,p.Ala105Thr,ENST00000557997,;TLE3,missense_variant,p.Ala105Thr,ENST00000559929,;TLE3,missense_variant,p.Ala103Thr,ENST00000557984,;TLE3,missense_variant,p.Ala105Thr,ENST00000442299,;TLE3,missense_variant,p.Ala111Thr,ENST00000560939,;TLE3,missense_variant,p.Ala49Thr,ENST00000560589,;TLE3,missense_variant,p.Ala105Thr,ENST00000451782,;TLE3,missense_variant,p.Ala105Thr,ENST00000558379,;TLE3,missense_variant,p.Ala105Thr,ENST00000558939,;TLE3,missense_variant,p.Ala105Thr,ENST00000557907,;TLE3,missense_variant,p.Ala98Thr,ENST00000440567,;TLE3,missense_variant,p.Ala105Thr,ENST00000317509,;TLE3,missense_variant,p.Ala49Thr,ENST00000560996,;TLE3,missense_variant,p.Ala111Thr,ENST00000559048,;TLE3,intron_variant,,ENST00000559191,;MIR629,downstream_gene_variant,,ENST00000385230,;TLE3,missense_variant,p.Ala179Thr,ENST00000560525,;TLE3,missense_variant,p.Ala105Thr,ENST00000557919,;TLE3,missense_variant,p.Ala105Thr,ENST00000561453,;TLE3,missense_variant,p.Ala2Thr,ENST00000537387,;	1691	51	42	SUCCESS
SIN3A	25942	.	GRCh37	15	75693237	75693237	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs749338687	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	71	0	ENST00000360439.4:c.1571A>T	p.Tyr524Phe	p.Y524F	ENST00000360439	NM_001145357.1	524	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS10279.1	1571	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTATAGCCC	NONE	.	.	PROSITE_profiles:PS51477,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2,Gene3D:1g1eB00,Superfamily_domains:SSF47762	.	.	ENSP00000378402	.	11/21	.	.	.	.	.	.	.	.	rs749338687	11/21	PASS	ENST00000394947	Transcript	.	.	ENSG00000169375	19353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.094)	.	tolerated(0.28)	.	SIN3A_HUMAN	SIN3A	HGNC	H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN	.	UPI000013EAD4	SNV	SIN3A,missense_variant,p.Tyr524Phe,ENST00000394949,;SIN3A,missense_variant,p.Tyr524Phe,ENST00000394947,;SIN3A,missense_variant,p.Tyr524Phe,ENST00000360439,;	1886	71	75	SUCCESS
XPO6	23214	.	GRCh37	16	28188641	28188641	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	63	173	0	ENST00000304658.5:c.107A>G	p.Asn36Ser	p.N36S	ENST00000304658	NM_015171.3	36	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS42135.1	107	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTATTAAGA	NONE	.	.	Superfamily_domains:SSF48371,SMART_domains:SM00913,Pfam_domain:PF03810,Gene3D:1.25.10.10,hmmpanther:PTHR21452,PROSITE_profiles:PS50166	.	.	ENSP00000302790	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000304658	Transcript	.	.	ENSG00000169180	19733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.243)	.	deleterious(0.04)	.	XPO6_HUMAN	XPO6	HGNC	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN	.	UPI000006F228	SNV	XPO6,missense_variant,p.Asn22Ser,ENST00000570033,;XPO6,missense_variant,p.Asn36Ser,ENST00000304658,;XPO6,missense_variant,p.Asn22Ser,ENST00000565698,;XPO6,5_prime_UTR_variant,,ENST00000569951,;XPO6,downstream_gene_variant,,ENST00000566073,;SNORA25,upstream_gene_variant,,ENST00000363782,;XPO6,upstream_gene_variant,,ENST00000573645,;	608	173	188	SUCCESS
MAZ	4150	.	GRCh37	16	29819111	29819111	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs778171318	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	44	0	ENST00000322945.6:c.1005del	p.Lys335AsnfsTer67	p.K335Nfs*67	ENST00000322945	NM_002383.3	335	aaG/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS42144.1	1005	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACAAGCCCTA	NONE	.	.	Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR11389:SF422,hmmpanther:PTHR11389	.	.	ENSP00000219782	.	2/6	.	.	.	.	.	.	.	.	rs778171318	2/6	PASS	ENST00000219782	Transcript	.	.	ENSG00000103495	6914	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAZ_HUMAN	MAZ	HGNC	Q9UJ31_HUMAN,Q8IUI2_HUMAN,I3L4Y2_HUMAN,I3L0M3_HUMAN	.	UPI00001AE621	deletion	MAZ,frameshift_variant,p.Lys312AsnfsTer67,ENST00000545521,;MAZ,frameshift_variant,p.Lys6AsnfsTer67,ENST00000568411,;MAZ,frameshift_variant,p.Lys85AsnfsTer67,ENST00000567444,;MAZ,frameshift_variant,p.Lys335AsnfsTer67,ENST00000322945,;MAZ,frameshift_variant,p.Lys335AsnfsTer67,ENST00000219782,;MAZ,intron_variant,,ENST00000566906,;MAZ,intron_variant,,ENST00000562337,;MAZ,intron_variant,,ENST00000563402,;MAZ,upstream_gene_variant,,ENST00000562594,;KIF22,downstream_gene_variant,,ENST00000569382,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000568544,;MAZ,upstream_gene_variant,,ENST00000563012,;KIF22,downstream_gene_variant,,ENST00000561482,;MAZ,upstream_gene_variant,,ENST00000568282,;KIF22,downstream_gene_variant,,ENST00000400751,;PRRT2,upstream_gene_variant,,ENST00000300797,;KIF22,downstream_gene_variant,,ENST00000160827,;PRRT2,upstream_gene_variant,,ENST00000358758,;PRRT2,upstream_gene_variant,,ENST00000562148,;PRRT2,upstream_gene_variant,,ENST00000567659,;KIF22,downstream_gene_variant,,ENST00000400750,;MAZ,upstream_gene_variant,,ENST00000562557,;PRRT2,upstream_gene_variant,,ENST00000572820,;AC009133.20,downstream_gene_variant,,ENST00000569039,;AC009133.15,upstream_gene_variant,,ENST00000566537,;AC009133.14,downstream_gene_variant,,ENST00000569981,;AC009133.14,downstream_gene_variant,,ENST00000563806,;PRRT2,upstream_gene_variant,,ENST00000567551,;MAZ,upstream_gene_variant,,ENST00000568516,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;	1111	44	71	SUCCESS
SRCAP	10847	.	GRCh37	16	30731600	30731600	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	40	89	0	ENST00000262518.4:c.2935A>G	p.Thr979Ala	p.T979A	ENST00000262518	NM_006662.2	979	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS10689.2	2935	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTACTGCT	NONE	.	.	hmmpanther:PTHR10799:SF581,hmmpanther:PTHR10799	.	.	ENSP00000262518	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000262518	Transcript	.	.	ENSG00000080603	16974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	SRCAP_HUMAN	SRCAP	HGNC	G1UI29_HUMAN,C9J4U4_HUMAN	.	UPI000059D368	SNV	SRCAP,missense_variant,p.Thr979Ala,ENST00000262518,;SRCAP,missense_variant,p.Thr979Ala,ENST00000344771,;SRCAP,missense_variant,p.Thr979Ala,ENST00000395059,;SRCAP,missense_variant,p.Thr960Ala,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	3320	89	96	SUCCESS
NMRAL1	57407	.	GRCh37	16	4511950	4511950	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	118	0	ENST00000283429.6:c.731A>C	p.Glu244Ala	p.E244A	ENST00000283429	NM_020677.3	244	gAg/gCg	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS10516.1	731	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTCAGGA	NONE	.	.	Superfamily_domains:SSF51735,hmmpanther:PTHR14194,hmmpanther:PTHR14194:SF42	.	.	ENSP00000458762	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000574733	Transcript	.	.	ENSG00000153406	24987	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.831)	.	deleterious(0.01)	.	NMRL1_HUMAN	NMRAL1	HGNC	.	.	UPI000007018F	SNV	NMRAL1,missense_variant,p.Glu135Ala,ENST00000572232,;NMRAL1,missense_variant,p.Glu244Ala,ENST00000283429,;NMRAL1,missense_variant,p.Glu69Ala,ENST00000572110,;NMRAL1,missense_variant,p.Glu244Ala,ENST00000404295,;NMRAL1,missense_variant,p.Glu244Ala,ENST00000574733,;NMRAL1,missense_variant,p.Glu244Ala,ENST00000574425,;NMRAL1,downstream_gene_variant,,ENST00000573571,;NMRAL1,downstream_gene_variant,,ENST00000576176,;NMRAL1,downstream_gene_variant,,ENST00000572391,;NMRAL1,3_prime_UTR_variant,,ENST00000571448,;NMRAL1,non_coding_transcript_exon_variant,,ENST00000573533,;NMRAL1,downstream_gene_variant,,ENST00000573520,;NMRAL1,downstream_gene_variant,,ENST00000571291,;	1461	118	117	SUCCESS
EDC4	23644	.	GRCh37	16	67916665	67916665	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs758613339	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	33	108	0	ENST00000358933.5:c.3526G>A	p.Gly1176Ser	p.G1176S	ENST00000358933	NM_014329.4	1176	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS10849.1	3526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCGGGGCCTG	NONE	byFrequency	.	hmmpanther:PTHR15598	.	.	ENSP00000351811	.	26/29	.	.	.	.	.	.	.	.	rs758613339	26/29	PASS	ENST00000358933	Transcript	.	.	ENSG00000038358	17157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.114)	.	tolerated(0.55)	.	EDC4_HUMAN	EDC4	HGNC	.	.	UPI0000141377	SNV	EDC4,missense_variant,p.Gly78Ser,ENST00000577105,;EDC4,missense_variant,p.Gly1176Ser,ENST00000358933,;EDC4,intron_variant,,ENST00000573985,;NRN1L,upstream_gene_variant,,ENST00000576147,;NRN1L,upstream_gene_variant,,ENST00000339176,;NRN1L,upstream_gene_variant,,ENST00000576758,;EDC4,upstream_gene_variant,,ENST00000575033,;CTC-479C5.10,non_coding_transcript_exon_variant,,ENST00000572067,;EDC4,downstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000575507,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,downstream_gene_variant,,ENST00000572724,;EDC4,downstream_gene_variant,,ENST00000575514,;	3765	108	104	SUCCESS
SPAG5-AS1	100506436	.	GRCh37	17	26944143	26944143	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	60	0	ENST00000414744.1:n.1891T>G		p.*631*	ENST00000414744				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32595.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTCAGAT	NONE	.	.	.	.	.	ENSP00000436773	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODIFIER	33/38	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,intron_variant,,ENST00000544884,;KIAA0100,intron_variant,,ENST00000528896,;KIAA0100,intron_variant,,ENST00000389003,;RP11-192H23.4,upstream_gene_variant,,ENST00000577790,;SGK494,upstream_gene_variant,,ENST00000530121,;RP11-192H23.4,upstream_gene_variant,,ENST00000531839,;SGK494,upstream_gene_variant,,ENST00000301037,;SGK494,upstream_gene_variant,,ENST00000525510,;RP11-192H23.4,upstream_gene_variant,,ENST00000534850,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000424210,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000414744,;SPAG5-AS1,downstream_gene_variant,,ENST00000554154,;KIAA0100,intron_variant,,ENST00000579924,;SGK494,upstream_gene_variant,,ENST00000526073,;SGK494,upstream_gene_variant,,ENST00000469832,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000584675,;SGK494,upstream_gene_variant,,ENST00000527918,;SGK494,upstream_gene_variant,,ENST00000581199,;SGK494,upstream_gene_variant,,ENST00000527863,;KIAA0100,upstream_gene_variant,,ENST00000583860,;SGK494,upstream_gene_variant,,ENST00000494272,;RP11-192H23.4,upstream_gene_variant,,ENST00000481916,;SGK494,upstream_gene_variant,,ENST00000461399,;KIAA0100,downstream_gene_variant,,ENST00000580395,;RP11-192H23.4,upstream_gene_variant,,ENST00000584196,;	.	60	59	SUCCESS
EVI2B	2124	.	GRCh37	17	29632116	29632116	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1177522391	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	70	281	0	ENST00000330927.4:c.512C>T	p.Thr171Ile	p.T171I	ENST00000330927	NM_006495.3	171	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS11266.1	512	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATGTTGGT	NONE	.	.	hmmpanther:PTHR15384	.	.	ENSP00000333779	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330927	Transcript	.	.	ENSG00000185862	3500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.17)	.	EVI2B_HUMAN	EVI2B	HGNC	.	.	UPI00001AFD5F	SNV	EVI2B,missense_variant,p.Thr171Ile,ENST00000330927,;EVI2B,missense_variant,p.Thr186Ile,ENST00000544462,;EVI2B,missense_variant,p.Thr171Ile,ENST00000577894,;NF1,intron_variant,,ENST00000358273,;NF1,intron_variant,,ENST00000456735,;NF1,intron_variant,,ENST00000356175,;CTD-2370N5.3,downstream_gene_variant,,ENST00000578584,;CTD-2370N5.3,downstream_gene_variant,,ENST00000584948,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;CTD-2370N5.3,downstream_gene_variant,,ENST00000581884,;CTD-2370N5.3,downstream_gene_variant,,ENST00000578021,;	667	281	230	SUCCESS
ERBB2	2064	.	GRCh37	17	37882886	37882886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	26	94	0	ENST00000269571.5:c.2944G>T	p.Asp982Tyr	p.D982Y	ENST00000269571		982	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS32642.1	2944	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGACCCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF137,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF56112	.	.	ENSP00000269571	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000269571	Transcript	.	.	ENSG00000141736	3430	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	ERBB2_HUMAN	ERBB2	HGNC	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN	.	UPI000003F55F	SNV	ERBB2,missense_variant,p.Asp982Tyr,ENST00000584450,;ERBB2,missense_variant,p.Asp967Tyr,ENST00000541774,;ERBB2,missense_variant,p.Asp706Tyr,ENST00000445658,;ERBB2,missense_variant,p.Asp982Tyr,ENST00000269571,;ERBB2,missense_variant,p.Asp952Tyr,ENST00000406381,;ERBB2,missense_variant,p.Asp952Tyr,ENST00000540147,;ERBB2,missense_variant,p.Asp952Tyr,ENST00000584601,;ERBB2,downstream_gene_variant,,ENST00000580074,;MIEN1,downstream_gene_variant,,ENST00000577810,;ERBB2,downstream_gene_variant,,ENST00000582818,;MIEN1,downstream_gene_variant,,ENST00000394231,;MIR4728,downstream_gene_variant,,ENST00000580969,;ERBB2,upstream_gene_variant,,ENST00000584888,;MIEN1,downstream_gene_variant,,ENST00000474210,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;MIEN1,downstream_gene_variant,,ENST00000582963,;ERBB2,downstream_gene_variant,,ENST00000583038,;ERBB2,downstream_gene_variant,,ENST00000578630,;MIEN1,downstream_gene_variant,,ENST00000469568,;MIEN1,downstream_gene_variant,,ENST00000498164,;	3103	94	86	SUCCESS
MED24	9862	.	GRCh37	17	38189360	38189360	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	48	0	ENST00000394128.2:c.771A>G	p.Thr257=	p.T257=	ENST00000394128	NM_014815.3	257	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS11359.1	771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCCTGTCAG	NONE	.	.	hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277	.	.	ENSP00000377686	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,synonymous_variant,p.%3D,ENST00000501516,;MED24,synonymous_variant,p.%3D,ENST00000535071,;MED24,synonymous_variant,p.%3D,ENST00000356271,;MED24,synonymous_variant,p.%3D,ENST00000394128,;MED24,synonymous_variant,p.%3D,ENST00000428757,;MED24,synonymous_variant,p.%3D,ENST00000394126,;MED24,synonymous_variant,p.%3D,ENST00000580885,;MED24,synonymous_variant,p.%3D,ENST00000394127,;MED24,downstream_gene_variant,,ENST00000582023,;MED24,downstream_gene_variant,,ENST00000578161,;MED24,downstream_gene_variant,,ENST00000543759,;MED24,downstream_gene_variant,,ENST00000580517,;MED24,downstream_gene_variant,,ENST00000585306,;MED24,downstream_gene_variant,,ENST00000537674,;MED24,downstream_gene_variant,,ENST00000479829,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,3_prime_UTR_variant,,ENST00000580008,;MED24,non_coding_transcript_exon_variant,,ENST00000585249,;MED24,non_coding_transcript_exon_variant,,ENST00000577488,;MED24,intron_variant,,ENST00000578901,;MED24,upstream_gene_variant,,ENST00000584077,;MED24,downstream_gene_variant,,ENST00000581054,;	853	48	39	SUCCESS
SPATA20	64847	.	GRCh37	17	48625802	48625802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	85	0	ENST00000356488.4:c.236A>G	p.Asn79Ser	p.N79S	ENST00000356488	NM_001258372.1	79	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS11571.1	284	RADIA|MUTECT|MUSE|VARSCANS	.	CTACAATCCTG	NONE	.	.	Superfamily_domains:SSF52833,PIRSF_domain:PIRSF006402,Pfam_domain:PF03190,hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145	.	.	ENSP00000006658	.	3/17	.	.	.	.	.	.	.	.	.	3/17	PASS	ENST00000006658	Transcript	.	.	ENSG00000006282	26125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	SPT20_HUMAN	SPATA20	HGNC	.	.	UPI000006CE23	SNV	SPATA20,missense_variant,p.Asn79Ser,ENST00000356488,;SPATA20,missense_variant,p.Asn95Ser,ENST00000006658,;SPATA20,missense_variant,p.Asn35Ser,ENST00000393244,;EPN3,downstream_gene_variant,,ENST00000268933,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000510917,;SPATA20,3_prime_UTR_variant,,ENST00000502911,;SPATA20,3_prime_UTR_variant,,ENST00000505559,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000505456,;SPATA20,3_prime_UTR_variant,,ENST00000505085,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512416,;SPATA20,non_coding_transcript_exon_variant,,ENST00000508598,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,non_coding_transcript_exon_variant,,ENST00000515526,;SPATA20,non_coding_transcript_exon_variant,,ENST00000505336,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511845,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512181,;SPATA20,upstream_gene_variant,,ENST00000504271,;SPATA20,upstream_gene_variant,,ENST00000513618,;SPATA20,upstream_gene_variant,,ENST00000511347,;SPATA20,upstream_gene_variant,,ENST00000504265,;SPATA20,upstream_gene_variant,,ENST00000505656,;SPATA20,upstream_gene_variant,,ENST00000508528,;SPATA20,upstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000511605,;	404	85	71	SUCCESS
SMARCD2	6603	.	GRCh37	17	61911879	61911879	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	70	0	ENST00000448276.2:c.876A>G	p.Gly292=	p.G292=	ENST00000448276	NM_001098426.1	292	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS45756.1	876	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCTCCAGG	NONE	.	.	hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF2	.	.	ENSP00000392617	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000448276	Transcript	.	.	ENSG00000108604	11107	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMRD2_HUMAN	SMARCD2	HGNC	J3KT18_HUMAN,J3KMX2_HUMAN	.	UPI0000D695F8	SNV	SMARCD2,synonymous_variant,p.%3D,ENST00000450364,;SMARCD2,synonymous_variant,p.%3D,ENST00000323347,;SMARCD2,synonymous_variant,p.%3D,ENST00000448276,;SMARCD2,synonymous_variant,p.%3D,ENST00000225742,;PSMC5,downstream_gene_variant,,ENST00000581882,;PSMC5,downstream_gene_variant,,ENST00000579708,;PSMC5,downstream_gene_variant,,ENST00000580864,;PSMC5,downstream_gene_variant,,ENST00000375812,;PSMC5,downstream_gene_variant,,ENST00000581842,;PSMC5,downstream_gene_variant,,ENST00000585123,;PSMC5,downstream_gene_variant,,ENST00000584320,;PSMC5,downstream_gene_variant,,ENST00000310144,;PSMC5,downstream_gene_variant,,ENST00000582130,;FTSJ3,upstream_gene_variant,,ENST00000580295,;SMARCD2,3_prime_UTR_variant,,ENST00000584400,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000584483,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000578234,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000581832,;PSMC5,downstream_gene_variant,,ENST00000583283,;PSMC5,downstream_gene_variant,,ENST00000584657,;PSMC5,downstream_gene_variant,,ENST00000578570,;PSMC5,downstream_gene_variant,,ENST00000584536,;PSMC5,downstream_gene_variant,,ENST00000580063,;PSMC5,downstream_gene_variant,,ENST00000579031,;PSMC5,downstream_gene_variant,,ENST00000581764,;SMARCD2,downstream_gene_variant,,ENST00000580054,;PSMC5,downstream_gene_variant,,ENST00000584880,;SMARCD2,downstream_gene_variant,,ENST00000577686,;PSMC5,downstream_gene_variant,,ENST00000579147,;PSMC5,downstream_gene_variant,,ENST00000585242,;	1142	70	75	SUCCESS
ABCA10	10349	.	GRCh37	17	67212380	67212380	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs777261524	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	159	69	235	0	ENST00000269081.4:c.650A>G	p.Tyr217Cys	p.Y217C	ENST00000269081	NM_080282.3	217	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS11684.1	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTATAGAGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229,Pfam_domain:PF12698	.	.	ENSP00000269081	.	8/40	.	.	.	.	.	.	.	.	rs777261524	8/40	PASS	ENST00000269081	Transcript	.	.	ENSG00000154263	30	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.762)	.	deleterious(0)	.	ABCAA_HUMAN	ABCA10	HGNC	K7ERP5_HUMAN	.	UPI000013D7F6	SNV	ABCA10,missense_variant,p.Tyr217Cys,ENST00000416101,;ABCA10,missense_variant,p.Tyr217Cys,ENST00000269081,;ABCA10,missense_variant,p.Tyr217Cys,ENST00000432313,;ABCA10,downstream_gene_variant,,ENST00000423818,;ABCA10,missense_variant,p.Tyr217Cys,ENST00000522406,;ABCA10,missense_variant,p.Tyr217Cys,ENST00000523419,;ABCA10,missense_variant,p.Tyr217Cys,ENST00000518929,;ABCA10,3_prime_UTR_variant,,ENST00000523512,;ABCA10,intron_variant,,ENST00000524273,;	1560	235	228	SUCCESS
GPS2	2874	.	GRCh37	17	7216083	7216095	+	frameshift_variant	Frame_Shift_Del	DEL	GGTAGAATCGCGG	GGTAGAATCGCGG	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	GGTAGAATCGCGG	GGTAGAATCGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	63	0	ENST00000380728.2:c.964_976del	p.Pro322ThrfsTer19	p.P322Tfs*19	ENST00000380728		322	CCGCGATTCTACCac/ac	0	.	.	.	.	.	-	PRFYH/X	protein_coding	YES	CCDS11100.1	964-976	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTGTGGTAGAATCGCGGGTTCT	NONE	.	.	hmmpanther:PTHR22654	.	.	ENSP00000370104	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000380728	Transcript	.	.	ENSG00000132522	4550	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPS2_HUMAN	GPS2	HGNC	I3L4X7_HUMAN	.	UPI0000000DD1	deletion	GPS2,frameshift_variant,p.Pro153ThrfsTer19,ENST00000573684,;GPS2,frameshift_variant,p.Pro322ThrfsTer19,ENST00000380728,;GPS2,frameshift_variant,p.Pro322ThrfsTer19,ENST00000389167,;GPS2,3_prime_UTR_variant,,ENST00000574458,;GPS2,intron_variant,,ENST00000570780,;GPS2,intron_variant,,ENST00000391950,;EIF5A,downstream_gene_variant,,ENST00000571955,;NEURL4,downstream_gene_variant,,ENST00000570460,;EIF5A,downstream_gene_variant,,ENST00000336458,;NEURL4,downstream_gene_variant,,ENST00000315614,;EIF5A,downstream_gene_variant,,ENST00000573542,;EIF5A,downstream_gene_variant,,ENST00000576930,;NEURL4,downstream_gene_variant,,ENST00000399464,;EIF5A,downstream_gene_variant,,ENST00000419711,;NEURL4,downstream_gene_variant,,ENST00000571887,;EIF5A,downstream_gene_variant,,ENST00000336452,;GPS2,downstream_gene_variant,,ENST00000577040,;EIF5A,downstream_gene_variant,,ENST00000572815,;EIF5A,downstream_gene_variant,,ENST00000573714,;EIF5A,downstream_gene_variant,,ENST00000416016,;NEURL4,downstream_gene_variant,,ENST00000574120,;RP11-542C16.2,3_prime_UTR_variant,,ENST00000315601,;RP11-542C16.2,3_prime_UTR_variant,,ENST00000575474,;GPS2,non_coding_transcript_exon_variant,,ENST00000572172,;GPS2,non_coding_transcript_exon_variant,,ENST00000571569,;GPS2,non_coding_transcript_exon_variant,,ENST00000571697,;GPS2,non_coding_transcript_exon_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000573059,;EIF5A,downstream_gene_variant,,ENST00000575001,;NEURL4,downstream_gene_variant,,ENST00000573186,;NEURL4,downstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000576794,;GPS2,downstream_gene_variant,,ENST00000572707,;EIF5A,downstream_gene_variant,,ENST00000355068,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000574201,;GPS2,downstream_gene_variant,,ENST00000571098,;	1265-1277	63	60	SUCCESS
TBCD	6904	.	GRCh37	17	80897258	80897258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	58	2	ENST00000355528.4:c.3385G>A	p.Ala1129Thr	p.A1129T	ENST00000355528	NM_005993.4	1129	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS45818.1	3385	SOMATICSNIPER|VARSCANS	.	CCACGGCCAGC	NONE	.	.	hmmpanther:PTHR12658,Gene3D:1.25.10.10	.	.	ENSP00000347719	.	37/39	.	.	.	.	.	.	.	.	.	37/39	PASS	ENST00000355528	Transcript	.	.	ENSG00000141556	11581	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.94)	.	deleterious(0)	.	TBCD_HUMAN	TBCD	HGNC	I3L4D2_HUMAN,I3L439_HUMAN,I3L3H4_HUMAN,I3L1S3_HUMAN,I3L163_HUMAN,I3L131_HUMAN	.	UPI000020053F	SNV	TBCD,missense_variant,p.Ala1167Thr,ENST00000539345,;TBCD,missense_variant,p.Ala1129Thr,ENST00000355528,;TBCD,missense_variant,p.Ala197Thr,ENST00000577051,;TBCD,upstream_gene_variant,,ENST00000572794,;B3GNTL1,downstream_gene_variant,,ENST00000576599,;B3GNTL1,downstream_gene_variant,,ENST00000320865,;TBCD,non_coding_transcript_exon_variant,,ENST00000576691,;TBCD,non_coding_transcript_exon_variant,,ENST00000576603,;B3GNTL1,downstream_gene_variant,,ENST00000572267,;B3GNTL1,downstream_gene_variant,,ENST00000570947,;TBCD,non_coding_transcript_exon_variant,,ENST00000572389,;TBCD,non_coding_transcript_exon_variant,,ENST00000576677,;TBCD,non_coding_transcript_exon_variant,,ENST00000575132,;TBCD,non_coding_transcript_exon_variant,,ENST00000576432,;TBCD,downstream_gene_variant,,ENST00000573364,;B3GNTL1,downstream_gene_variant,,ENST00000572977,;B3GNTL1,downstream_gene_variant,,ENST00000571301,;B3GNTL1,downstream_gene_variant,,ENST00000573363,;	3515	60	32	SUCCESS
ELAC1	55520	.	GRCh37	18	48500817	48500820	+	frameshift_variant	Frame_Shift_Del	DEL	CCAT	CCAT	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	CCAT	CCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	75	36	130	0	ENST00000269466.3:c.44_47del	p.Pro15LeufsTer31	p.P15Lfs*31	ENST00000269466	NM_018696.2	15	CCATct/ct	0	.	.	.	.	.	-	PS/X	protein_coding	YES	CCDS11949.1	43-46	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATACCCATCTCCA	NONE	.	.	HAMAP:MF_01818,hmmpanther:PTHR12553,TIGRFAM_domain:TIGR02651,Gene3D:3.60.15.10,Superfamily_domains:SSF56281	.	.	ENSP00000269466	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000269466	Transcript	.	.	ENSG00000141642	14197	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RNZ1_HUMAN	ELAC1	HGNC	.	.	UPI000006F39C	deletion	ELAC1,frameshift_variant,p.Pro15LeufsTer31,ENST00000591429,;ELAC1,frameshift_variant,p.Pro15LeufsTer31,ENST00000269466,;ELAC1,frameshift_variant,p.Pro15LeufsTer31,ENST00000588577,;SMAD4,5_prime_UTR_variant,,ENST00000452201,;RP11-729L2.2,non_coding_transcript_exon_variant,,ENST00000588256,;RP11-729L2.2,frameshift_variant,p.Pro15LeufsTer31,ENST00000590722,;	150-153	130	111	SUCCESS
NFATC1	4772	.	GRCh37	18	77170730	77170730	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	5	68	0	ENST00000427363.2:c.455C>T	p.Pro152Leu	p.P152L	ENST00000427363		152	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS32850.1	416	MUTECT|MUSE|VARSCANS	.	GTCCCCCTCCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF5	.	.	ENSP00000327850	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000329101	Transcript	.	.	ENSG00000131196	7775	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.071)	.	tolerated(0.08)	.	NFAC1_HUMAN	NFATC1	HGNC	F5H4S8_HUMAN	.	UPI000002AF02	SNV	NFATC1,missense_variant,p.Pro152Leu,ENST00000542384,;NFATC1,missense_variant,p.Pro139Leu,ENST00000586434,;NFATC1,missense_variant,p.Pro152Leu,ENST00000253506,;NFATC1,missense_variant,p.Pro139Leu,ENST00000329101,;NFATC1,missense_variant,p.Pro139Leu,ENST00000592223,;NFATC1,missense_variant,p.Pro152Leu,ENST00000427363,;NFATC1,missense_variant,p.Pro139Leu,ENST00000318065,;NFATC1,missense_variant,p.Pro152Leu,ENST00000591814,;NFATC1,missense_variant,p.Pro152Leu,ENST00000587635,;NFATC1,intron_variant,,ENST00000545796,;NFATC1,intron_variant,,ENST00000397790,;NFATC1,intron_variant,,ENST00000590313,;	472	68	63	SUCCESS
PKN1	5585	.	GRCh37	19	14580605	14580605	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	79	0	ENST00000242783.6:c.2195A>G	p.His732Arg	p.H732R	ENST00000242783	NM_002741.3	732	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS42514.1	2213	MUTECT|MUSE|VARSCANS	.	TCTTCACGAAC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF69,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000343325	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000342216	Transcript	.	.	ENSG00000123143	9405	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PKN1_HUMAN	PKN1	HGNC	.	.	UPI0000366D4D	SNV	PKN1,missense_variant,p.His732Arg,ENST00000242783,;PKN1,missense_variant,p.His738Arg,ENST00000342216,;PKN1,intron_variant,,ENST00000586237,;PTGER1,downstream_gene_variant,,ENST00000292513,;PKN1,upstream_gene_variant,,ENST00000592960,;PKN1,missense_variant,p.His136Arg,ENST00000591461,;PKN1,non_coding_transcript_exon_variant,,ENST00000585839,;PKN1,upstream_gene_variant,,ENST00000586039,;PKN1,downstream_gene_variant,,ENST00000586900,;PKN1,downstream_gene_variant,,ENST00000587215,;	2244	79	49	SUCCESS
URI1	8725	.	GRCh37	19	30496346	30496346	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	269	120	445	0	ENST00000392271.1:c.218A>G	p.Gln73Arg	p.Q73R	ENST00000392271	NM_003796.3	73	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS12420.1	446	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCAGAAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15111:SF0,hmmpanther:PTHR15111	.	.	ENSP00000442436	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000542441	Transcript	.	.	ENSG00000105176	13236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	deleterious(0.05)	.	RMP_HUMAN	URI1	HGNC	I3NI51_HUMAN,I3L2V7_HUMAN,I3L130_HUMAN,I3L104_HUMAN	.	UPI00001604C8	SNV	URI1,missense_variant,p.Gln109Arg,ENST00000312051,;URI1,missense_variant,p.Gln73Arg,ENST00000392271,;URI1,missense_variant,p.Gln73Arg,ENST00000576442,;URI1,missense_variant,p.Gln149Arg,ENST00000542441,;URI1,missense_variant,p.Gln131Arg,ENST00000360605,;URI1,upstream_gene_variant,,ENST00000575242,;URI1,downstream_gene_variant,,ENST00000574233,;URI1,non_coding_transcript_exon_variant,,ENST00000570704,;URI1,non_coding_transcript_exon_variant,,ENST00000574176,;URI1,3_prime_UTR_variant,,ENST00000574110,;URI1,3_prime_UTR_variant,,ENST00000574666,;	743	445	390	SUCCESS
TSHZ3	57616	.	GRCh37	19	31768721	31768721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	51	0	ENST00000240587.4:c.1978A>G	p.Ser660Gly	p.S660G	ENST00000240587	NM_020856.2	660	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS12421.2	1978	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCTGGATG	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.23)	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,missense_variant,p.Ser660Gly,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	2306	51	41	SUCCESS
CCDC114	0	.	GRCh37	19	48821778	48821778	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376555574	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	41	0	ENST00000315396.7:c.115G>A	p.Ala39Thr	p.A39T	ENST00000315396	NM_144577.3	39	Gca/Aca	0	T:0.0007	.	.	.	.	T	A/T	protein_coding	YES	CCDS12714.2	115	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCGCTGA	NONE	byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694:SF18,hmmpanther:PTHR21694	.	T:0	ENSP00000318429	.	3/14	.	.	.	.	.	.	.	.	rs376555574	3/14	PASS	ENST00000315396	Transcript	1	.	ENSG00000105479	26560	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.228)	.	deleterious(0.01)	.	CC114_HUMAN	CCDC114	HGNC	.	.	UPI0000EE7B5F	SNV	CCDC114,missense_variant,p.Ala39Thr,ENST00000315396,;EMP3,upstream_gene_variant,,ENST00000599704,;CCDC114,non_coding_transcript_exon_variant,,ENST00000497803,;CCDC114,intron_variant,,ENST00000504608,;CCDC114,non_coding_transcript_exon_variant,,ENST00000474199,;CCDC114,downstream_gene_variant,,ENST00000483610,;	798	41	34	SUCCESS
MYH14	79784	.	GRCh37	19	50812373	50812373	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	60	206	0	ENST00000376970.2:c.5875G>A	p.Asp1959Asn	p.D1959N	ENST00000376970	NM_024729.3	1959	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54295.1	5899	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAAGATGTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318,Pfam_domain:PF01576	.	.	ENSP00000470298	.	42/43	.	.	.	.	.	.	.	.	.	42/43	PASS	ENST00000601313	Transcript	1	.	ENSG00000105357	23212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.948)	.	deleterious(0)	.	MYH14_HUMAN	MYH14	HGNC	A1L2Z2_HUMAN	.	UPI0001641C2F	SNV	MYH14,missense_variant,p.Asp1967Asn,ENST00000440075,;MYH14,missense_variant,p.Asp1967Asn,ENST00000601313,;MYH14,missense_variant,p.Asp1959Asn,ENST00000376970,;MYH14,missense_variant,p.Asp1926Asn,ENST00000596571,;MYH14,missense_variant,p.Asp1934Asn,ENST00000425460,;MYH14,missense_variant,p.Asp1934Asn,ENST00000598205,;MYH14,missense_variant,p.Asp1967Asn,ENST00000262269,;KCNC3,downstream_gene_variant,,ENST00000391818,;KCNC3,downstream_gene_variant,,ENST00000376959,;KCNC3,downstream_gene_variant,,ENST00000474951,;CTB-191K22.5,downstream_gene_variant,,ENST00000595563,;MYH14,non_coding_transcript_exon_variant,,ENST00000597072,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	5929	206	183	SUCCESS
ZNF321P	399669	.	GRCh37	19	53432469	53432469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	37	107	0	ENST00000391777.3:c.389C>T	p.Thr130Ile	p.T130I	ENST00000391777		130	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS56101.1	389	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTGTCATG	NONE	.	.	hmmpanther:PTHR24407:SF13,hmmpanther:PTHR24407	.	.	ENSP00000375656	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391777	Transcript	.	.	ENSG00000221874	13827	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	tolerated(0.11)	.	ZN321_HUMAN	ZNF321P	HGNC	.	.	UPI000041A073	SNV	ZNF321P,missense_variant,p.Thr130Ile,ENST00000391777,;ZNF816,missense_variant,p.Thr130Ile,ENST00000434371,;ZNF816,missense_variant,p.Thr61Ile,ENST00000549216,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000313956,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000550843,;	511	107	92	SUCCESS
LILRB5	10990	.	GRCh37	19	54755933	54755933	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs139764664	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	38	147	0	ENST00000449561.2:c.1613T>A	p.Val538Glu	p.V538E	ENST00000449561		538	gTg/gAg	0	C:0.0061	C:0.003	.	C:0	.	T	V/E	protein_coding	YES	CCDS46176.1	1613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCACCCCG	CODON|p.V537V|c.1611G>A|3,CODON|p.V529V|c.1587G>A|3	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85	C:0	C:0	ENSP00000406478	C:0	12/13	.	.	.	.	.	.	.	.	rs139764664	12/13	PASS	ENST00000449561	Transcript	.	C:0.0008	ENSG00000105609	6609	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.26)	C:0	deleterious(0.02)	.	LIRB5_HUMAN	LILRB5	HGNC	.	.	UPI0000202BB5	SNV	LILRB5,missense_variant,p.Val438Glu,ENST00000345866,;LILRB5,missense_variant,p.Val529Glu,ENST00000450632,;LILRB5,missense_variant,p.Val538Glu,ENST00000449561,;LILRB5,missense_variant,p.Val537Glu,ENST00000316219,;CTD-2337J16.1,upstream_gene_variant,,ENST00000595133,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;RPS9,downstream_gene_variant,,ENST00000448962,;AC010492.4,upstream_gene_variant,,ENST00000506567,;	1684	148	134	SUCCESS
PRAMEF11	440560	.	GRCh37	1	12888359	12888359	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs750748050	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	87	0	ENST00000535591.1:c.165C>A		p.X55_splice	ENST00000535591	NM_001146344.1	55	ccC/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS53268.1	165	RADIA|SOMATICSNIPER|VARSCANS	.	CACCTGGGACG	NONE	byFrequency	.	hmmpanther:PTHR14224:SF19,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286	.	.	ENSP00000439551	.	2/4	.	.	.	.	.	.	.	.	rs750748050	2/4	PASS	ENST00000535591	Transcript	.	.	ENSG00000204513	14086	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRA11_HUMAN	PRAMEF11	HGNC	.	.	UPI00001D7634	SNV	PRAMEF11,synonymous_variant,p.%3D,ENST00000535591,;PRAMEF11,synonymous_variant,p.%3D,ENST00000437584,;	361	87	82	SUCCESS
PRAMEF11	440560	.	GRCh37	1	12888360	12888360	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs199585175	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	88	0	ENST00000535591.1:c.164C>A	p.Pro55His	p.P55H	ENST00000535591	NM_001146344.1	55	cCc/cAc	0	.	.	.	.	.	T	P/H	protein_coding	YES	CCDS53268.1	164	RADIA|SOMATICSNIPER|VARSCANS	.	ACCTGGGACGA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR14224:SF19,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286	.	.	ENSP00000439551	.	2/4	.	.	.	.	.	.	.	.	rs199585175,COSM4142328	2/4	PASS	ENST00000535591	Transcript	.	.	ENSG00000204513	14086	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	0,1	.	.	benign(0.022)	.	deleterious(0)	0,1	PRA11_HUMAN	PRAMEF11	HGNC	.	.	UPI00001D7634	SNV	PRAMEF11,missense_variant,p.Pro55His,ENST00000535591,;PRAMEF11,missense_variant,p.Pro55His,ENST00000437584,;	360	88	83	SUCCESS
PDZK1	5174	.	GRCh37	1	145748530	145748530	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	195	311	0	ENST00000344770.2:c.403C>G	p.Leu135Val	p.L135V	ENST00000344770	NM_002614.4	135	Ctc/Gtc	0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS924.1	403	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCTCTGC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF6,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000342143	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000344770	Transcript	.	.	ENSG00000174827	8821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0.01)	.	NHRF3_HUMAN	PDZK1	HGNC	.	.	UPI000006D202	SNV	PDZK1,missense_variant,p.Leu135Val,ENST00000417171,;PDZK1,missense_variant,p.Leu135Val,ENST00000344770,;PDZK1,missense_variant,p.Leu135Val,ENST00000451928,;PDZK1,missense_variant,p.Leu135Val,ENST00000443667,;	476	311	452	SUCCESS
DCST2	127579	.	GRCh37	1	155003072	155003072	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	310	58	232	0	ENST00000368424.3:c.855G>A	p.Met285Ile	p.M285I	ENST00000368424	NM_144622.2	285	atG/atA	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS1082.2	855	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCATGTT	NONE	.	.	hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF1	.	.	ENSP00000357409	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000368424	Transcript	.	.	ENSG00000163354	26562	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0)	.	tolerated(1)	.	DCST2_HUMAN	DCST2	HGNC	Q8N1J0_HUMAN	.	UPI0000D959B3	SNV	DCST2,missense_variant,p.Met285Ile,ENST00000295536,;DCST2,missense_variant,p.Met285Ile,ENST00000368424,;DCST1,upstream_gene_variant,,ENST00000423025,;DCST1,upstream_gene_variant,,ENST00000392480,;DCST1,upstream_gene_variant,,ENST00000295542,;DCST1,upstream_gene_variant,,ENST00000368419,;DCST2,missense_variant,p.Met285Ile,ENST00000485982,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST1,upstream_gene_variant,,ENST00000525273,;DCST2,upstream_gene_variant,,ENST00000498036,;DCST1,upstream_gene_variant,,ENST00000368420,;DCST2,upstream_gene_variant,,ENST00000467991,;	914	232	368	SUCCESS
OR6K6	128371	.	GRCh37	1	158725375	158725375	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761000591	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	39	145	0	ENST00000368144.2:c.770C>T	p.Ser257Leu	p.S257L	ENST00000368144	NM_001005184.1	257	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS30904.1	770	RADIA|MUTECT|MUSE|VARSCANS	.	GCACTCAGCTG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000357126	.	1/1	.	.	.	.	.	.	.	.	rs761000591	1/1	PASS	ENST00000368144	Transcript	.	.	ENSG00000180433	15033	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	OR6K6_HUMAN	OR6K6	HGNC	.	.	UPI000015F229	SNV	OR6K6,missense_variant,p.Ser257Leu,ENST00000368144,;	866	145	245	SUCCESS
MGST3	4259	.	GRCh37	1	165621242	165621242	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	169	7	93	0	ENST00000367884.2:c.219T>G	p.Phe73Leu	p.F73L	ENST00000367884		73	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS1249.1	219	MUTECT|MUSE	.	TTATTTTTTCT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR10250,hmmpanther:PTHR10250:SF14,Pfam_domain:PF01124,Gene3D:1.20.120.550,Superfamily_domains:SSF161084	.	.	ENSP00000356864	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000367889	Transcript	.	.	ENSG00000143198	7064	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.147)	.	tolerated(0.09)	.	MGST3_HUMAN	MGST3	HGNC	Q2F833_HUMAN	.	UPI000012BC86	SNV	MGST3,missense_variant,p.Phe87Leu,ENST00000367886,;MGST3,missense_variant,p.Phe73Leu,ENST00000367889,;MGST3,missense_variant,p.Phe73Leu,ENST00000367884,;MGST3,missense_variant,p.Phe87Leu,ENST00000367885,;MGST3,missense_variant,p.Phe73Leu,ENST00000367888,;MGST3,missense_variant,p.Phe87Leu,ENST00000367883,;MGST3,non_coding_transcript_exon_variant,,ENST00000477450,;MGST3,downstream_gene_variant,,ENST00000461759,;MGST3,non_coding_transcript_exon_variant,,ENST00000495447,;MGST3,downstream_gene_variant,,ENST00000488688,;MGST3,upstream_gene_variant,,ENST00000494074,;MGST3,downstream_gene_variant,,ENST00000461308,;MGST3,downstream_gene_variant,,ENST00000609263,;	659	93	176	SUCCESS
SERTAD4	56256	.	GRCh37	1	210414919	210414919	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	55	101	0	ENST00000367012.3:c.308A>C	p.Glu103Ala	p.E103A	ENST00000367012	NM_019605.3	103	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS1494.1	308	RADIA|SOMATICSNIPER|VARSCANS	.	TTTTGAGGAAC	NONE	.	.	PROSITE_profiles:PS51053,hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3	.	.	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,missense_variant,p.Glu103Ala,ENST00000367012,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;	538	101	154	SUCCESS
TTC13	79573	.	GRCh37	1	231048481	231048481	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	50	83	0	ENST00000366661.4:c.2117del	p.Val706GlyfsTer17	p.V706Gfs*17	ENST00000366661	NM_024525.4	706	gTg/gg	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS1588.1	2117	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTCCACAGAA	NONE	.	.	hmmpanther:PTHR23083:SF363,hmmpanther:PTHR23083	.	.	ENSP00000355621	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	deletion	TTC13,frameshift_variant,p.Val706GlyfsTer17,ENST00000366661,;TTC13,frameshift_variant,p.Val652GlyfsTer17,ENST00000366662,;TTC13,frameshift_variant,p.Val653GlyfsTer17,ENST00000414259,;TTC13,non_coding_transcript_exon_variant,,ENST00000471302,;	2125	83	157	SUCCESS
ZNF670	93474	.	GRCh37	1	247201279	247201279	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	25	83	0	ENST00000366503.2:c.642A>G	p.Glu214=	p.E214=	ENST00000366503	NM_001204220.1	214	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS31087.1	642	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATGTTCACG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF168,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000355459	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366503	Transcript	.	.	ENSG00000135747	28167	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN670_HUMAN	ZNF670	HGNC	.	.	UPI0000070EC3	SNV	ZNF670,synonymous_variant,p.%3D,ENST00000366503,;ZNF670,intron_variant,,ENST00000474541,;ZNF670,intron_variant,,ENST00000465049,;RP11-551G24.2,upstream_gene_variant,,ENST00000439523,;	801	83	153	SUCCESS
MAP3K6	9064	.	GRCh37	1	27686481	27686481	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	65	0	ENST00000357582.2:c.2187C>T	p.Ser729=	p.S729=	ENST00000357582		729	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS299.1	2187	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGCTGCC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF371,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000419591	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000493901	Transcript	.	.	ENSG00000142733	6858	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	M3K6_HUMAN	MAP3K6	HGNC	Q32MQ5_HUMAN	.	UPI0000205587	SNV	MAP3K6,synonymous_variant,p.%3D,ENST00000374040,;MAP3K6,synonymous_variant,p.%3D,ENST00000357582,;MAP3K6,synonymous_variant,p.%3D,ENST00000472410,;MAP3K6,synonymous_variant,p.%3D,ENST00000493901,;MAP3K6,upstream_gene_variant,,ENST00000486046,;MAP3K6,upstream_gene_variant,,ENST00000470890,;MAP3K6,upstream_gene_variant,,ENST00000476509,;MAP3K6,upstream_gene_variant,,ENST00000495230,;	2427	65	60	SUCCESS
RPL22	6146	.	GRCh37	1	6257812	6257812	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	25	0	ENST00000234875.4:c.17del	p.Lys6SerfsTer4	p.K6Sfs*4	ENST00000234875	NM_000983.3	6	aAg/ag	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS58.1	17	INDELOCATOR*|PINDEL	.	ACAAGCTTTTTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10064:SF2,hmmpanther:PTHR10064	.	.	ENSP00000346088	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000234875	Transcript	.	.	ENSG00000116251	10315	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RL22_HUMAN	RPL22	HGNC	Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN	.	UPI000015A487	deletion	RPL22,frameshift_variant,p.Lys6SerfsTer4,ENST00000234875,;RPL22,5_prime_UTR_variant,,ENST00000465387,;RPL22,5_prime_UTR_variant,,ENST00000497965,;RPL22,5_prime_UTR_variant,,ENST00000462296,;RPL22,5_prime_UTR_variant,,ENST00000471204,;RPL22,5_prime_UTR_variant,,ENST00000484532,;RPL22,5_prime_UTR_variant,,ENST00000465335,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,;	56	25	36	SUCCESS
JAK1	3716	.	GRCh37	1	65316572	65316572	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	72	0	ENST00000342505.4:c.1670C>T	p.Ala557Val	p.A557V	ENST00000342505	NM_002227.2	557	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS41346.1	1670	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAGCCACC	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,PIRSF_domain:PIRSF000636	.	.	ENSP00000343204	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(1)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Ala557Val,ENST00000342505,;JAK1,upstream_gene_variant,,ENST00000471473,;JAK1,upstream_gene_variant,,ENST00000465376,;	1919	72	63	SUCCESS
JAK1	3716	.	GRCh37	1	65316573	65316573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	9	71	0	ENST00000342505.4:c.1669G>T	p.Ala557Ser	p.A557S	ENST00000342505	NM_002227.2	557	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS41346.1	1669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGCCACCA	NONE	.	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,PIRSF_domain:PIRSF000636	.	.	ENSP00000343204	.	12/25	.	.	.	.	.	.	.	.	.	12/25	PASS	ENST00000342505	Transcript	.	.	ENSG00000162434	6190	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.22)	.	JAK1_HUMAN	JAK1	HGNC	.	.	UPI0000054C7D	SNV	JAK1,missense_variant,p.Ala557Ser,ENST00000342505,;JAK1,upstream_gene_variant,,ENST00000471473,;JAK1,upstream_gene_variant,,ENST00000465376,;	1918	71	64	SUCCESS
ELTD1	0	.	GRCh37	1	79387445	79387445	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	82	232	0	ENST00000370742.3:c.1110T>C	p.Cys370=	p.C370=	ENST00000370742	NM_022159.3	370	tgT/tgC	0	.	.	.	.	.	G	C	protein_coding	YES	CCDS41352.1	1110	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGCACATAG	NONE	.	.	PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF01825,SMART_domains:SM00303	.	.	ENSP00000359778	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,synonymous_variant,p.%3D,ENST00000370742,;ELTD1,upstream_gene_variant,,ENST00000401034,;	1174	233	232	SUCCESS
PRKACB	5567	.	GRCh37	1	84543803	84543803	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1557887994	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	24	0	ENST00000370689.2:c.-206C>T		p.*69*	ENST00000370689	NM_002731.2			0	.	.	.	.	.	T	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCCGCTGC	NONE	.	189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000605506	Transcript	.	.	ENSG00000271576	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-486G15.2	Clone_based_vega_gene	.	.	.	SNV	PRKACB,5_prime_UTR_variant,,ENST00000370689,;PRKACB,upstream_gene_variant,,ENST00000370688,;RP11-486G15.2,upstream_gene_variant,,ENST00000605506,;	.	24	26	SUCCESS
ABHD12	26090	.	GRCh37	20	25371383	25371383	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs373200654	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	73	0	ENST00000339157.5:c.-44C>G		p.*15*	ENST00000339157	NM_001042472.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13172.1	.	RADIA|VARSCANS	.	GGCCTGCGCCG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000365725	.	1/13	.	.	.	.	.	.	.	.	rs373200654	1/13	common_in_exac	ENST00000376542	Transcript	1	.	ENSG00000100997	15868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,5_prime_UTR_variant,,ENST00000339157,;ABHD12,5_prime_UTR_variant,,ENST00000376542,;ABHD12,upstream_gene_variant,,ENST00000471287,;ABHD12,5_prime_UTR_variant,,ENST00000461204,;	237	73	37	SUCCESS
SELO	0	.	GRCh37	22	50654151	50654151	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776782428	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	40	0	ENST00000380903.2:c.1357G>A	p.Asp453Asn	p.D453N	ENST00000380903	NM_031454.1	453	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS43034.1	1357	MUTECT|MUSE	.	GTGCCGACTTC	NONE	byFrequency	.	HAMAP:MF_00692,hmmpanther:PTHR12153,Pfam_domain:PF02696	.	.	ENSP00000370288	.	6/9	.	.	.	.	.	.	.	.	rs776782428	6/9	PASS	ENST00000380903	Transcript	.	.	ENSG00000073169	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.944)	.	deleterious(0.01)	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	SNV	SELO,missense_variant,p.Asp453Asn,ENST00000380903,;TUBGCP6,downstream_gene_variant,,ENST00000439308,;TUBGCP6,downstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000248846,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000498611,;	1415	40	45	SUCCESS
NT5DC4	284958	.	GRCh37	2	113487248	113487248	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	61	0	ENST00000327581.4:c.1215C>T	p.Asp405=	p.D405=	ENST00000327581		405	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	.	1215	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGACCCTGC	NONE	.	.	Superfamily_domains:SSF56784	.	.	ENSP00000330247	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000327581	Transcript	.	.	ENSG00000144130	27678	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NT5D4_HUMAN	NT5DC4	HGNC	.	.	UPI0000197313	SNV	NT5DC4,synonymous_variant,p.%3D,ENST00000327581,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000497526,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000491170,;NT5DC4,downstream_gene_variant,,ENST00000462854,;	1266	61	60	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131675046	131675046	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	55	145	0	ENST00000326016.5:c.-32G>A		p.*11*	ENST00000326016	NM_015320.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2165.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGCTCA	NONE	.	.	.	.	.	ENSP00000316845	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,stop_gained,p.Trp170Ter,ENST00000438985,;ARHGEF4,stop_gained,p.Trp846Ter,ENST00000409359,;ARHGEF4,5_prime_UTR_variant,,ENST00000392953,;ARHGEF4,5_prime_UTR_variant,,ENST00000525839,;ARHGEF4,5_prime_UTR_variant,,ENST00000326016,;ARHGEF4,5_prime_UTR_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	488	145	180	SUCCESS
CERS6	253782	.	GRCh37	2	169626068	169626068	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	37	153	0	ENST00000305747.6:c.1051G>T	p.Asp351Tyr	p.D351Y	ENST00000305747	NM_203463.2	351	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS58734.1	1075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGGACTCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12560:SF10,hmmpanther:PTHR12560,PIRSF_domain:PIRSF005225	.	.	ENSP00000376453	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000392687	Transcript	.	.	ENSG00000172292	23826	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.556)	.	tolerated(0.05)	.	CERS6_HUMAN	CERS6	HGNC	.	.	UPI000020902F	SNV	CERS6,missense_variant,p.Asp359Tyr,ENST00000392687,;CERS6,missense_variant,p.Asp351Tyr,ENST00000305747,;CERS6-AS1,downstream_gene_variant,,ENST00000599361,;CERS6-AS1,downstream_gene_variant,,ENST00000600693,;CERS6-AS1,downstream_gene_variant,,ENST00000594941,;CERS6-AS1,downstream_gene_variant,,ENST00000607993,;CERS6-AS1,downstream_gene_variant,,ENST00000425636,;CERS6-AS1,downstream_gene_variant,,ENST00000609665,;CERS6-AS1,downstream_gene_variant,,ENST00000609766,;	1275	153	132	SUCCESS
GORASP2	26003	.	GRCh37	2	171822386	171822386	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	63	0	ENST00000234160.4:c.1105C>G	p.Pro369Ala	p.P369A	ENST00000234160	NM_015530.4	369	Ccc/Gcc	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS33325.1	1105	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTCCCCTTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1	.	.	ENSP00000234160	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000234160	Transcript	.	.	ENSG00000115806	17500	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.811)	.	tolerated(0.06)	.	GORS2_HUMAN	GORASP2	HGNC	B4DQF1_HUMAN	.	UPI000007373B	SNV	GORASP2,missense_variant,p.Pro381Ala,ENST00000452526,;GORASP2,missense_variant,p.Pro369Ala,ENST00000234160,;GORASP2,non_coding_transcript_exon_variant,,ENST00000493692,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,non_coding_transcript_exon_variant,,ENST00000486498,;	1920	63	74	SUCCESS
TTN	7273	.	GRCh37	2	179423342	179423342	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs768882533	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	55	0	ENST00000591111.1:c.81921A>C	p.Lys27307Asn	p.K27307N	ENST00000591111		27307	aaA/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS59435.1	86844	MUTECT|MUSE	.	CCAAGTTTTTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	327/363	.	.	.	.	.	.	.	.	rs768882533	327/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Lys20008Asn,ENST00000359218,;TTN,missense_variant,p.Lys27307Asn,ENST00000591111,;TTN,missense_variant,p.Lys28948Asn,ENST00000589042,;TTN,missense_variant,p.Lys20075Asn,ENST00000342175,;TTN,missense_variant,p.Lys26380Asn,ENST00000342992,;TTN,missense_variant,p.Lys19883Asn,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	87069	55	50	SUCCESS
PASK	23178	.	GRCh37	2	242054738	242054738	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs775509775	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	29	128	0	ENST00000234040.4:c.3163A>G	p.Ile1055Val	p.I1055V	ENST00000234040	NM_001252119.1	1055	Att/Gtt	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS58759.1	3163	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAATTGCGA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22971:SF2,hmmpanther:PTHR22971,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000351475	.	13/18	.	.	.	.	.	.	.	.	rs775509775,rs781292652	13/18	PASS	ENST00000358649	Transcript	.	.	ENSG00000115687	17270	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.03)	.	PASK_HUMAN	PASK	HGNC	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN	.	UPI0000456F4C	SNV	PASK,missense_variant,p.Ile1055Val,ENST00000405260,;PASK,missense_variant,p.Ile1055Val,ENST00000358649,;PASK,missense_variant,p.Ile1055Val,ENST00000403638,;PASK,missense_variant,p.Ile869Val,ENST00000544142,;PASK,missense_variant,p.Ile839Val,ENST00000539818,;PASK,missense_variant,p.Ile1055Val,ENST00000234040,;PASK,upstream_gene_variant,,ENST00000475666,;PASK,non_coding_transcript_exon_variant,,ENST00000493544,;PASK,upstream_gene_variant,,ENST00000489256,;AC005237.2,upstream_gene_variant,,ENST00000434368,;	3227	128	111	SUCCESS
RTN4	57142	.	GRCh37	2	55253876	55253876	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	25	75	0	ENST00000337526.6:c.1359T>C	p.Gly453=	p.G453=	ENST00000337526	NM_020532.4	453	ggT/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS42684.1	1359	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTATACCTTC	NONE	.	.	hmmpanther:PTHR10994:SF25,hmmpanther:PTHR10994	.	.	ENSP00000337838	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000337526	Transcript	.	.	ENSG00000115310	14085	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTN4_HUMAN	RTN4	HGNC	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN	.	UPI000000D81D	SNV	RTN4,synonymous_variant,p.%3D,ENST00000404909,;RTN4,synonymous_variant,p.%3D,ENST00000405240,;RTN4,synonymous_variant,p.%3D,ENST00000354474,;RTN4,synonymous_variant,p.%3D,ENST00000337526,;RTN4,synonymous_variant,p.%3D,ENST00000357376,;RTN4,synonymous_variant,p.%3D,ENST00000394611,;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000357732,;RTN4,intron_variant,,ENST00000438462,;RTN4,intron_variant,,ENST00000317610,;RTN4,downstream_gene_variant,,ENST00000427710,;	1603	75	75	SUCCESS
CCDC85A	114800	.	GRCh37	2	56611449	56611449	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	76	0	ENST00000407595.2:c.1621A>C	p.Arg541=	p.R541=	ENST00000407595	NM_001080433.1	541	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS46290.1	1621	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTAGGCAA	NONE	.	.	hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13	.	.	ENSP00000384040	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000407595	Transcript	.	.	ENSG00000055813	29400	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC85A_HUMAN	CCDC85A	HGNC	.	.	UPI00001C1DC1	SNV	CCDC85A,synonymous_variant,p.%3D,ENST00000407595,;RP11-482H16.1,non_coding_transcript_exon_variant,,ENST00000607540,;	2123	76	78	SUCCESS
RAB1A	5861	.	GRCh37	2	65357050	65357050	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs1006065576	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	149	0	ENST00000409784.3:c.-1C>T		p.*1*	ENST00000409784	NM_004161.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46306.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATGTCACT	NONE	.	.	.	.	.	ENSP00000387286	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000409784	Transcript	.	.	ENSG00000138069	9758	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB1A_HUMAN	RAB1A	HGNC	Q96RD8_HUMAN,Q5U0I6_HUMAN	.	UPI0000001259	SNV	RAB1A,5_prime_UTR_variant,,ENST00000409892,;RAB1A,5_prime_UTR_variant,,ENST00000398529,;RAB1A,5_prime_UTR_variant,,ENST00000356214,;RAB1A,5_prime_UTR_variant,,ENST00000409784,;RAB1A,5_prime_UTR_variant,,ENST00000409751,;RAB1A,non_coding_transcript_exon_variant,,ENST00000494188,;	191	149	119	SUCCESS
ADD2	119	.	GRCh37	2	70910804	70910804	+	synonymous_variant	Silent	SNP	G	G	A	rs376528363	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	53	218	0	ENST00000264436.4:c.1044C>T	p.Ala348=	p.A348=	ENST00000264436	NM_001617.3	348	gcC/gcT	0	A:0.0002	.	.	.	.	A	A	protein_coding	YES	CCDS1906.1	1044	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGCCCA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672	.	A:0	ENSP00000264436	.	10/16	.	.	.	.	.	.	.	.	rs376528363,COSM1244495,COSM1244494,COSM1244496	10/16	PASS	ENST00000264436	Transcript	.	.	ENSG00000075340	244	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	.	.	.	0,1,1,1	ADDB_HUMAN	ADD2	HGNC	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN	.	UPI0000125503	SNV	ADD2,synonymous_variant,p.%3D,ENST00000413157,;ADD2,synonymous_variant,p.%3D,ENST00000264436,;ADD2,synonymous_variant,p.%3D,ENST00000430656,;ADD2,synonymous_variant,p.%3D,ENST00000407644,;ADD2,synonymous_variant,p.%3D,ENST00000355733,;ADD2,intron_variant,,ENST00000456320,;ADD2,intron_variant,,ENST00000522886,;AC007395.3,upstream_gene_variant,,ENST00000457851,;ADD2,synonymous_variant,p.%3D,ENST00000403045,;	1489	218	200	SUCCESS
HTRA2	27429	.	GRCh37	2	74757803	74757803	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1558611272	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	89	1	ENST00000258080.3:c.566C>T	p.Ala189Val	p.A189V	ENST00000258080	NM_013247.4	189	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1951.1	566	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCCGATG	NONE	.	.	Superfamily_domains:SSF50494,Gene3D:2.40.10.10,Pfam_domain:PF13365,hmmpanther:PTHR22939:SF69,hmmpanther:PTHR22939	.	.	ENSP00000258080	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000258080	Transcript	.	.	ENSG00000115317	14348	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.477)	.	deleterious(0.04)	.	HTRA2_HUMAN	HTRA2	HGNC	.	.	UPI000012CB84	SNV	HTRA2,missense_variant,p.Ala189Val,ENST00000352222,;HTRA2,missense_variant,p.Ala189Val,ENST00000258080,;HTRA2,missense_variant,p.Ala176Val,ENST00000437202,;LOXL3,downstream_gene_variant,,ENST00000420535,;DQX1,upstream_gene_variant,,ENST00000404568,;DQX1,upstream_gene_variant,,ENST00000393951,;LOXL3,downstream_gene_variant,,ENST00000409986,;LOXL3,downstream_gene_variant,,ENST00000264094,;LOXL3,downstream_gene_variant,,ENST00000409249,;AUP1,upstream_gene_variant,,ENST00000377526,;LOXL3,downstream_gene_variant,,ENST00000409549,;DQX1,upstream_gene_variant,,ENST00000451518,;LOXL3,downstream_gene_variant,,ENST00000393937,;HTRA2,non_coding_transcript_exon_variant,,ENST00000462909,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484881,;HTRA2,non_coding_transcript_exon_variant,,ENST00000467961,;DQX1,upstream_gene_variant,,ENST00000498552,;LOXL3,downstream_gene_variant,,ENST00000481835,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;HTRA2,non_coding_transcript_exon_variant,,ENST00000465521,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482205,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000486234,;DQX1,upstream_gene_variant,,ENST00000473508,;LOXL3,downstream_gene_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000462297,;AUP1,upstream_gene_variant,,ENST00000464887,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000472800,;	1196	90	67	SUCCESS
KALRN	8997	.	GRCh37	3	124201708	124201708	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	137	0	ENST00000240874.3:c.4239G>A	p.Lys1413=	p.K1413=	ENST00000240874	NM_003947.4	1413	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS3027.1	4239	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAAGCCTGT	NONE	.	.	PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	.	.	ENSP00000240874	.	28/34	.	.	.	.	.	.	.	.	.	28/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,synonymous_variant,p.%3D,ENST00000240874,;KALRN,synonymous_variant,p.%3D,ENST00000460856,;KALRN,synonymous_variant,p.%3D,ENST00000354186,;KALRN,synonymous_variant,p.%3D,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;	4396	137	85	SUCCESS
PRR23A	729627	.	GRCh37	3	138724705	138724705	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	61	183	0	ENST00000383163.2:c.406G>A	p.Val136Ile	p.V136I	ENST00000383163	NM_001134659.1	136	Gtc/Atc	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS46923.1	406	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGACGACGT	NONE	.	.	hmmpanther:PTHR31813:SF2,hmmpanther:PTHR31813,Pfam_domain:PF10630	.	.	ENSP00000372649	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000383163	Transcript	.	.	ENSG00000206260	37172	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.112)	.	tolerated(0.14)	.	PR23A_HUMAN	PRR23A	HGNC	.	.	UPI00003671C1	SNV	PRR23A,missense_variant,p.Val136Ile,ENST00000383163,;MRPS22,5_prime_UTR_variant,,ENST00000495075,;	406	183	188	SUCCESS
YEATS2	55689	.	GRCh37	3	183465489	183465489	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	3	58	0	ENST00000305135.5:c.954T>C	p.Thr318=	p.T318=	ENST00000305135	NM_018023.4	318	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS43175.1	954	MUTECT|MUSE	.	CAGACTCTTGG	BUFFER|p.L316L|c.948G>A|4,BUFFER|p.L316L|c.948G>A|4	.	.	hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7	.	.	ENSP00000306983	.	9/31	.	.	.	.	.	.	.	.	.	9/31	PASS	ENST00000305135	Transcript	.	.	ENSG00000163872	25489	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YETS2_HUMAN	YEATS2	HGNC	.	.	UPI00001BB2B9	SNV	YEATS2,synonymous_variant,p.%3D,ENST00000305135,;	1149	58	63	SUCCESS
GOLGA4	2803	.	GRCh37	3	37370558	37370558	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	70	0	ENST00000361924.2:c.6166G>T	p.Ala2056Ser	p.A2056S	ENST00000361924	NM_002078.4	2056	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS54564.1	6232	MUTECT|MUSE	.	GAACAGCCAAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	.	.	ENSP00000349305	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	.	.	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,missense_variant,p.Ala2078Ser,ENST00000356847,;GOLGA4,missense_variant,p.Ala2056Ser,ENST00000361924,;GOLGA4,missense_variant,p.Ala1927Ser,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000498250,;	6531	70	55	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913409	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	33	152	0	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS2694.1	134	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCTCTGA	SITE|p.S45F|c.134C>T|518,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S45del|c.131_133delCTT|3,CODON|p.S45del|c.133_135delTCT|50,CODON|p.S45A|c.133T>G|15,CODON|p.S45P|c.133T>C|225,CODON|p.S45T|c.133T>A|4,CODON|p.S45del|c.134_136delCTC|4,CODON|p.S45Y|c.134C>A|27,CODON|p.S45C|c.134C>G|27,BUFFER|p.T41T|c.123C>T|3,BUFFER|p.T42fs*7|c.125_126delCA|3,BUFFER|p.T42I|c.125C>T|3,BUFFER|p.T42R|c.125C>G|5,BUFFER|p.T42T|c.126A>G|5,BUFFER|p.A43T|c.127G>A|4,BUFFER|p.A43V|c.128C>T|7,BUFFER|p.P44S|c.130C>T|5,BUFFER|p.P44A|c.130C>G|6,BUFFER|p.P44L|c.131C>T|3,BUFFER|p.S45S|c.135T>C|3,BUFFER|p.L46P|c.137T>C|3,BUFFER|p.L46L|c.138G>A|3,BUFFER|p.S47G|c.139A>G|6,BUFFER|p.S47N|c.140G>A|3,BUFFER|p.G48D|c.143G>A|9,BUFFER|p.K49E|c.145A>G|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5667,COSM5692,COSM5689,COSM6100	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1	.	.	probably_damaging(0.954)	.	deleterious(0)	1,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	414	152	107	SUCCESS
TRAK1	22906	.	GRCh37	3	42264841	42264841	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	81	0	ENST00000327628.5:c.2474A>G	p.Lys825Arg	p.K825R	ENST00000327628	NM_001042646.2	825	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS43072.1	2474	MUTECT|MUSE	.	AGAAAAGAACG	NONE	.	.	hmmpanther:PTHR15751:SF11,hmmpanther:PTHR15751,Pfam_domain:PF12448	.	.	ENSP00000328998	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000327628	Transcript	.	.	ENSG00000182606	29947	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.856)	.	tolerated(0.57)	.	TRAK1_HUMAN	TRAK1	HGNC	.	.	UPI0000139F52	SNV	TRAK1,missense_variant,p.Lys767Arg,ENST00000396175,;TRAK1,missense_variant,p.Lys825Arg,ENST00000327628,;RNU4-78P,downstream_gene_variant,,ENST00000410940,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;	2874	81	60	SUCCESS
PABPC4L	132430	.	GRCh37	4	135121098	135121098	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	111	0	ENST00000421491.3:c.1077C>A	p.Ser359=	p.S359=	ENST00000421491		359	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	.	1251	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTGGAGCC	NONE	.	.	Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF252,PROSITE_profiles:PS50102	.	.	ENSP00000462986	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000529122	Transcript	.	.	ENSG00000254535	31955	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PABPC4L	HGNC	J3KTH5_HUMAN	.	UPI000057985C	SNV	PABPC4L,synonymous_variant,p.%3D,ENST00000421491,;PABPC4L,synonymous_variant,p.%3D,ENST00000529122,;	1334	111	103	SUCCESS
PCDH18	54510	.	GRCh37	4	138451883	138451883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	26	80	0	ENST00000344876.4:c.1360C>A	p.Gln454Lys	p.Q454K	ENST00000344876	NM_019035.3	454	Caa/Aaa	0	.	.	.	.	.	T	Q/K	protein_coding	YES	CCDS34064.1	1360	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTGAACTG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	.	.	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.68)	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,missense_variant,p.Gln454Lys,ENST00000344876,;PCDH18,missense_variant,p.Gln234Lys,ENST00000507846,;PCDH18,missense_variant,p.Gln454Lys,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	1747	80	88	SUCCESS
TENM3	55714	.	GRCh37	4	183658118	183658118	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	11	149	0	ENST00000511685.1:c.3125G>A	p.Gly1042Glu	p.G1042E	ENST00000511685		1042	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS47165.1	3125	MUTECT|MUSE	.	AGTAGGAAGAC	NONE	.	.	hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	.	.	ENSP00000424226	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000511685	Transcript	1	.	ENSG00000218336	29944	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.972)	.	deleterious(0)	.	TEN3_HUMAN	TENM3	HGNC	G3CAS9_HUMAN,D6RGC5_HUMAN	.	UPI00006C0820	SNV	TENM3,missense_variant,p.Gly1042Glu,ENST00000511685,;TENM3,missense_variant,p.Gly1042Glu,ENST00000406950,;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	3248	149	188	SUCCESS
TRIML2	205860	.	GRCh37	4	189022387	189022387	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	21	66	0	ENST00000512729.1:c.153T>A	p.Phe51Leu	p.F51L	ENST00000512729	NM_173553.1	51	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS3850.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAAAATT	NONE	.	.	hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103	.	.	ENSP00000422581	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000512729	Transcript	.	.	ENSG00000179046	26378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.799)	.	tolerated(0.12)	.	TRIMM_HUMAN	TRIML2	HGNC	.	.	UPI000007300A	SNV	TRIML2,missense_variant,p.Phe51Leu,ENST00000326754,;TRIML2,missense_variant,p.Phe101Leu,ENST00000536972,;TRIML2,missense_variant,p.Phe51Leu,ENST00000512729,;TRIML2,downstream_gene_variant,,ENST00000394461,;TRIML2,downstream_gene_variant,,ENST00000502707,;TRIML2,missense_variant,p.Phe6Leu,ENST00000503475,;TRIML2,missense_variant,p.Phe6Leu,ENST00000503141,;TRIML2,non_coding_transcript_exon_variant,,ENST00000511771,;	528	66	69	SUCCESS
SEC31A	22872	.	GRCh37	4	83778256	83778267	+	inframe_deletion	In_Frame_Del	DEL	AAAGCCTGAGTA	AAAGCCTGAGTA	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	AAAGCCTGAGTA	AAAGCCTGAGTA	.	.	.	.	.	.	.	.	.	.	.	.	.	117	37	228	0	ENST00000355196.2:c.1719_1730del	p.Ile573_Leu577delinsMet	p.I573_L577delinsM	ENST00000355196		573	atTACTCAGGCTTTg/atg	0	.	.	.	.	.	-	ITQAL/M	protein_coding	YES	CCDS3596.1	1719-1730	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCAGCAAAGCCTGAGTAATTAA	NONE	.	.	Pfam_domain:PF12931,hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923	.	.	ENSP00000378721	.	16/27	.	.	.	.	.	.	.	.	.	16/27	PASS	ENST00000395310	Transcript	.	.	ENSG00000138674	17052	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SC31A_HUMAN	SEC31A	HGNC	U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN	.	UPI000003E7E1	deletion	SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000448323,;SEC31A,inframe_deletion,p.Ile534_Leu538delinsMet,ENST00000505984,;SEC31A,inframe_deletion,p.Ile306_Leu310delinsMet,ENST00000264405,;SEC31A,inframe_deletion,p.Ile88_Leu92delinsMet,ENST00000512664,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000311785,;SEC31A,inframe_deletion,p.Ile534_Leu538delinsMet,ENST00000500777,;SEC31A,inframe_deletion,p.Ile161_Leu165delinsMet,ENST00000510167,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000395310,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000509142,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000508502,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000505472,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000432794,;SEC31A,inframe_deletion,p.Ile190_Leu194delinsMet,ENST00000507828,;SEC31A,inframe_deletion,p.Ile534_Leu538delinsMet,ENST00000513858,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000355196,;SEC31A,inframe_deletion,p.Ile568_Leu572delinsMet,ENST00000443462,;SEC31A,inframe_deletion,p.Ile573_Leu577delinsMet,ENST00000508479,;SEC31A,inframe_deletion,p.Ile534_Leu538delinsMet,ENST00000326950,;SEC31A,inframe_deletion,p.Ile534_Leu538delinsMet,ENST00000348405,;SEC31A,non_coding_transcript_exon_variant,,ENST00000503226,;SEC31A,non_coding_transcript_exon_variant,,ENST00000512732,;	1902-1913	228	154	SUCCESS
DSPP	1834	.	GRCh37	4	88535923	88535925	+	inframe_deletion	In_Frame_Del	DEL	TAG	TAG	-	rs763983975	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	TAG	TAG	.	.	.	.	.	.	.	.	.	.	.	.	.	160	32	217	0	ENST00000282478.7:c.2113_2115del	p.Ser705del	p.S705del	ENST00000282478		703	gaTAGt/gat	0	.	.	.	.	.	-	DS/D	protein_coding	YES	CCDS43248.1	2109-2111	INDELOCATOR|VARSCANI	.	CAGTGATAGTAGTG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR32093	.	.	ENSP00000382213	.	5/5	.	.	.	.	.	.	.	.	rs763983975	5/5	PASS	ENST00000399271	Transcript	1	.	ENSG00000152591	3054	4	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSPP_HUMAN	DSPP	HGNC	B7SEZ4_HUMAN,B7SEY4_HUMAN	.	UPI00006BFF57	deletion	DSPP,inframe_deletion,p.Ser705del,ENST00000282478,;DSPP,inframe_deletion,p.Ser705del,ENST00000399271,;RP11-742B18.1,intron_variant,,ENST00000506480,;	2229-2231	217	192	SUCCESS
TERT	7015	.	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs878855297	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	80	0	ENST00000310581.5:c.-57A>C		p.*19*	ENST00000310581	NM_198253.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3861.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCTGAAAC	NONE	.	.	.	.	.	ENSP00000309572	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,5_prime_UTR_variant,,ENST00000296820,;TERT,5_prime_UTR_variant,,ENST00000310581,;TERT,upstream_gene_variant,,ENST00000508104,;TERT,upstream_gene_variant,,ENST00000334602,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,upstream_gene_variant,,ENST00000460137,;	2	80	63	SUCCESS
FCHSD1	89848	.	GRCh37	5	141027040	141027040	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	39	137	0	ENST00000435817.2:c.753C>G	p.Ser251=	p.S251=	ENST00000435817	NM_033449.2	251	tcC/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS47295.1	753	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGGAGGT	NONE	.	.	Superfamily_domains:SSF103657,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735	.	.	ENSP00000399259	.	9/20	.	.	.	.	.	.	.	.	.	9/20	PASS	ENST00000435817	Transcript	.	.	ENSG00000197948	25463	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCSD1_HUMAN	FCHSD1	HGNC	.	.	UPI000000D903	SNV	FCHSD1,synonymous_variant,p.%3D,ENST00000522783,;FCHSD1,synonymous_variant,p.%3D,ENST00000435817,;FCHSD1,synonymous_variant,p.%3D,ENST00000522126,;FCHSD1,downstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000518499,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000522763,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000522386,;FCHSD1,upstream_gene_variant,,ENST00000518160,;FCHSD1,upstream_gene_variant,,ENST00000520747,;	804	137	113	SUCCESS
SH3RF2	153769	.	GRCh37	5	145435595	145435595	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1253703202	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	42	97	0	ENST00000359120.4:c.1374G>A	p.Trp458Ter	p.W458*	ENST00000359120	NM_152550.3	458	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS4280.1	1374	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGGACGTT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF50044	.	.	ENSP00000424497	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000511217	Transcript	.	.	ENSG00000156463	26299	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3R2_HUMAN	SH3RF2	HGNC	.	.	UPI0000457366	SNV	SH3RF2,stop_gained,p.Trp458Ter,ENST00000359120,;SH3RF2,stop_gained,p.Trp458Ter,ENST00000511217,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000511705,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000503848,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000504522,;	1426	97	99	SUCCESS
FBXL7	23194	.	GRCh37	5	15928342	15928342	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	85	0	ENST00000504595.1:c.471C>T	p.Ile157=	p.I157=	ENST00000504595	NM_012304.4	157	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS54833.1	471	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATCCGCCT	NONE	.	.	PROSITE_profiles:PS50181,hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383	.	.	ENSP00000423630	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,synonymous_variant,p.%3D,ENST00000329673,;FBXL7,synonymous_variant,p.%3D,ENST00000510662,;FBXL7,synonymous_variant,p.%3D,ENST00000504595,;	952	85	61	SUCCESS
CLK4	57396	.	GRCh37	5	178043943	178043943	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	83	291	0	ENST00000316308.4:c.482T>G	p.Ile161Ser	p.I161S	ENST00000316308	NM_020666.2	161	aTc/aGc	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS4437.1	482	RADIA|MUTECT|MUSE	.	CCACGATTTCA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000316948	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,missense_variant,p.Ile161Ser,ENST00000316308,;CLK4,downstream_gene_variant,,ENST00000520957,;RN7SKP70,downstream_gene_variant,,ENST00000516655,;CLK4,non_coding_transcript_exon_variant,,ENST00000522749,;CLK4,missense_variant,p.Ser131Ala,ENST00000522136,;CLK4,3_prime_UTR_variant,,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,downstream_gene_variant,,ENST00000523013,;CLK4,downstream_gene_variant,,ENST00000522556,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	651	291	285	SUCCESS
CLK4	57396	.	GRCh37	5	178043949	178043949	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	81	286	0	ENST00000316308.4:c.476A>C	p.Tyr159Ser	p.Y159S	ENST00000316308	NM_020666.2	159	tAt/tCt	0	.	.	.	.	.	G	Y/S	protein_coding	YES	CCDS4437.1	476	RADIA|MUTECT|MUSE	.	TTTCATCTAGA	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	.	.	ENSP00000316948	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000316308	Transcript	.	.	ENSG00000113240	13659	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CLK4_HUMAN	CLK4	HGNC	Q68D95_HUMAN	.	UPI000007065C	SNV	CLK4,missense_variant,p.Tyr159Ser,ENST00000316308,;CLK4,downstream_gene_variant,,ENST00000520957,;RN7SKP70,downstream_gene_variant,,ENST00000516655,;CLK4,splice_region_variant,,ENST00000522749,;CLK4,missense_variant,p.Met129Leu,ENST00000522136,;CLK4,splice_region_variant,,ENST00000520878,;CLK4,splice_region_variant,,ENST00000521621,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,downstream_gene_variant,,ENST00000523013,;CLK4,downstream_gene_variant,,ENST00000522556,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	645	287	278	SUCCESS
CDH6	1004	.	GRCh37	5	31267451	31267451	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	29	0	ENST00000265071.2:c.-128-2A>C		p.X43_splice	ENST00000265071	NM_004932.3	43		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3894.1	.	MUTECT|MUSE	.	TTTCCAGATAT	NONE	.	.	.	.	.	ENSP00000265071	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265071	Transcript	.	.	ENSG00000113361	1765	.	.	HIGH	1/11	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CADH6_HUMAN	CDH6	HGNC	.	.	UPI0000126D9B	SNV	CDH6,splice_acceptor_variant,,ENST00000514738,;CDH6,splice_acceptor_variant,,ENST00000265071,;RP11-152K4.2,intron_variant,,ENST00000523584,;	.	29	27	SUCCESS
FYB	0	.	GRCh37	5	39141216	39141216	+	synonymous_variant	Silent	SNP	A	A	G	rs533406048	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	91	320	0	ENST00000540520.1:c.1350T>C	p.Asp450=	p.D450=	ENST00000540520	NM_001243093.1	450	gaT/gaC	0	.	G:0	.	G:0	.	G	D	protein_coding	YES	CCDS58945.1	1350	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCATCTTG	NONE	by1000G	.	hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF10	G:0.001	.	ENSP00000442840	G:0	4/19	.	.	.	.	.	.	.	.	rs533406048	4/19	PASS	ENST00000540520	Transcript	.	G:0.0002	ENSG00000082074	4036	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	FYB_HUMAN	FYB	HGNC	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	.	UPI00017A75FB	SNV	FYB,synonymous_variant,p.%3D,ENST00000515010,;FYB,synonymous_variant,p.%3D,ENST00000505428,;FYB,synonymous_variant,p.%3D,ENST00000351578,;FYB,synonymous_variant,p.%3D,ENST00000540520,;FYB,synonymous_variant,p.%3D,ENST00000512982,;	1436	320	280	SUCCESS
SEPP1	0	.	GRCh37	5	42808264	42808264	+	synonymous_variant	Silent	SNP	C	C	T	rs770721160	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	20	77	0	ENST00000506577.1:c.192G>A	p.Leu64=	p.L64=	ENST00000506577		64	ctG/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS43311.1	192	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGCAGTAT	NONE	.	.	hmmpanther:PTHR10105,hmmpanther:PTHR10105:SF3,Pfam_domain:PF04592	.	.	ENSP00000420939	.	2/5	.	.	.	.	.	.	.	.	rs770721160	2/5	PASS	ENST00000514985	Transcript	.	.	ENSG00000250722	10751	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPP1_HUMAN	SEPP1	HGNC	.	.	UPI00001C1D4A	SNV	SEPP1,synonymous_variant,p.%3D,ENST00000506577,;SEPP1,synonymous_variant,p.%3D,ENST00000510965,;SEPP1,synonymous_variant,p.%3D,ENST00000507920,;SEPP1,synonymous_variant,p.%3D,ENST00000511224,;SEPP1,synonymous_variant,p.%3D,ENST00000514218,;SEPP1,synonymous_variant,p.%3D,ENST00000514985,;CTD-2325A15.5,downstream_gene_variant,,ENST00000606056,;SEPP1,non_coding_transcript_exon_variant,,ENST00000513303,;SEPP1,non_coding_transcript_exon_variant,,ENST00000509276,;SEPP1,non_coding_transcript_exon_variant,,ENST00000515626,;SEPP1,non_coding_transcript_exon_variant,,ENST00000506078,;SEPP1,non_coding_transcript_exon_variant,,ENST00000512980,;SEPP1,non_coding_transcript_exon_variant,,ENST00000508937,;SEPP1,non_coding_transcript_exon_variant,,ENST00000505309,;SEPP1,intron_variant,,ENST00000510650,;SEPP1,upstream_gene_variant,,ENST00000514403,;	449	77	66	SUCCESS
TPD52L1	7164	.	GRCh37	6	125584049	125584049	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	25	88	0	ENST00000534000.1:c.556A>G	p.Ser186Gly	p.S186G	ENST00000534000	NM_003287.2	186	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS5130.1	556	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCAGTGCC	NONE	.	.	hmmpanther:PTHR19307:SF8,hmmpanther:PTHR19307,Pfam_domain:PF04201	.	.	ENSP00000434142	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000534000	Transcript	.	.	ENSG00000111907	12006	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.04)	.	TPD53_HUMAN	TPD52L1	HGNC	F6V707_HUMAN,E9PNQ9_HUMAN	.	UPI0000136B40	SNV	TPD52L1,missense_variant,p.Ser173Gly,ENST00000527711,;TPD52L1,missense_variant,p.Ser186Gly,ENST00000534000,;TPD52L1,missense_variant,p.Ser157Gly,ENST00000532429,;TPD52L1,missense_variant,p.Ser191Gly,ENST00000304877,;TPD52L1,3_prime_UTR_variant,,ENST00000392482,;TPD52L1,3_prime_UTR_variant,,ENST00000528193,;TPD52L1,3_prime_UTR_variant,,ENST00000534199,;TPD52L1,3_prime_UTR_variant,,ENST00000368402,;TPD52L1,3_prime_UTR_variant,,ENST00000524679,;TPD52L1,3_prime_UTR_variant,,ENST00000368388,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000576089,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000530868,;HDDC2,intron_variant,,ENST00000608456,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000571678,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000532423,;HDDC2,intron_variant,,ENST00000609477,;	852	88	74	SUCCESS
LAMA2	3908	.	GRCh37	6	129468191	129468191	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	25	113	0	ENST00000421865.2:c.907A>T	p.Asn303Tyr	p.N303Y	ENST00000421865	NM_001079823.1	303	Aat/Tat	0	.	.	.	.	.	T	N/Y	protein_coding	YES	CCDS5138.1	907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACAAATGTA	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000400365	.	6/65	.	.	.	.	.	.	.	.	.	6/65	PASS	ENST00000421865	Transcript	.	.	ENSG00000196569	6482	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	deleterious(0)	.	LAMA2_HUMAN	LAMA2	HGNC	Q59H37_HUMAN	.	UPI00003673E0	SNV	LAMA2,missense_variant,p.Asn303Tyr,ENST00000421865,;	956	113	68	SUCCESS
BTN2A2	10385	.	GRCh37	6	26388421	26388421	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	105	0	ENST00000356709.4:c.623C>T	p.Thr208Ile	p.T208I	ENST00000356709	NM_001197240.1	208	aCc/aTc	0	.	.	.	.	.	T	T/I	protein_coding	YES	CCDS4606.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACCACAG	NONE	.	.	hmmpanther:PTHR24100:SF43,hmmpanther:PTHR24100,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	.	.	ENSP00000349143	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000356709	Transcript	.	.	ENSG00000124508	1137	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	deleterious(0.02)	.	BT2A2_HUMAN	BTN2A2	HGNC	C9JAJ6_HUMAN,C9J8R3_HUMAN,C9IZY2_HUMAN,C9IY66_HUMAN	.	UPI00000480EA	SNV	BTN2A2,missense_variant,p.Thr208Ile,ENST00000356709,;BTN2A2,missense_variant,p.Thr92Ile,ENST00000352867,;BTN2A2,missense_variant,p.Thr3Ile,ENST00000490025,;BTN2A2,missense_variant,p.Thr3Ile,ENST00000482842,;BTN2A2,missense_variant,p.Thr92Ile,ENST00000483410,;BTN2A2,missense_variant,p.Thr92Ile,ENST00000472507,;BTN2A2,missense_variant,p.Thr208Ile,ENST00000469230,;BTN2A2,missense_variant,p.Thr208Ile,ENST00000416795,;BTN2A2,missense_variant,p.Thr208Ile,ENST00000493275,;BTN2A2,intron_variant,,ENST00000432533,;BTN2A2,intron_variant,,ENST00000482536,;BTN2A2,downstream_gene_variant,,ENST00000494184,;BTN2A2,upstream_gene_variant,,ENST00000495632,;BTN2A2,non_coding_transcript_exon_variant,,ENST00000467485,;BTN2A2,downstream_gene_variant,,ENST00000482636,;BTN2A2,downstream_gene_variant,,ENST00000471116,;	734	105	102	SUCCESS
GPR110	0	.	GRCh37	6	46977900	46977900	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	41	130	0	ENST00000371253.2:c.1271T>G	p.Phe424Cys	p.F424C	ENST00000371253	NM_153840.2	424	tTt/tGt	0	.	.	.	.	.	C	F/C	protein_coding	YES	CCDS34471.1	1271	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAAAATTC	NONE	.	.	hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011	.	.	ENSP00000360299	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000371253	Transcript	.	.	ENSG00000153292	18990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.855)	.	deleterious(0.01)	.	GP110_HUMAN	GPR110	HGNC	.	.	UPI00000474ED	SNV	GPR110,missense_variant,p.Phe227Cys,ENST00000283297,;GPR110,missense_variant,p.Phe424Cys,ENST00000371253,;GPR110,non_coding_transcript_exon_variant,,ENST00000449332,;GPR110,non_coding_transcript_exon_variant,,ENST00000419892,;GPR110,downstream_gene_variant,,ENST00000471487,;GPR110,downstream_gene_variant,,ENST00000475745,;	1487	130	99	SUCCESS
RIMS1	22999	.	GRCh37	6	73043310	73043310	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	79	269	0	ENST00000521978.1:c.4138A>G	p.Thr1380Ala	p.T1380A	ENST00000521978	NM_014989.5	1380	Acc/Gcc	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS47449.1	4138	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTACCCCC	NONE	.	.	hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	.	.	ENSP00000428417	.	29/34	.	.	.	.	.	.	.	.	.	29/34	PASS	ENST00000521978	Transcript	.	.	ENSG00000079841	17282	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	tolerated(0.1)	.	RIMS1_HUMAN	RIMS1	HGNC	.	.	UPI00001908FB	SNV	RIMS1,missense_variant,p.Thr1203Ala,ENST00000491071,;RIMS1,missense_variant,p.Thr545Ala,ENST00000453976,;RIMS1,missense_variant,p.Thr186Ala,ENST00000538414,;RIMS1,missense_variant,p.Thr298Ala,ENST00000522211,;RIMS1,missense_variant,p.Thr726Ala,ENST00000517433,;RIMS1,missense_variant,p.Thr1229Ala,ENST00000264839,;RIMS1,missense_variant,p.Thr700Ala,ENST00000401910,;RIMS1,missense_variant,p.Thr1380Ala,ENST00000521978,;RIMS1,missense_variant,p.Thr428Ala,ENST00000370420,;RIMS1,intron_variant,,ENST00000517827,;RIMS1,intron_variant,,ENST00000522291,;RIMS1,intron_variant,,ENST00000520567,;RIMS1,intron_variant,,ENST00000518273,;RIMS1,intron_variant,,ENST00000517960,;RIMS1,intron_variant,,ENST00000523963,;RIMS1,intron_variant,,ENST00000425662,;RIMS1,intron_variant,,ENST00000348717,;RIMS1,intron_variant,,ENST00000463023,;	4138	270	234	SUCCESS
SNX14	57231	.	GRCh37	6	86277255	86277255	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	446	202	742	0	ENST00000314673.3:c.458A>T	p.Tyr153Phe	p.Y153F	ENST00000314673	NM_153816.3	153	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS5004.1	458	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGTACCAC	NONE	.	.	SMART_domains:SM00313,Pfam_domain:PF02194,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775,PROSITE_profiles:PS51207	.	.	ENSP00000313121	.	5/29	.	.	.	.	.	.	.	.	.	5/29	PASS	ENST00000314673	Transcript	.	.	ENSG00000135317	14977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.866)	.	tolerated(0.1)	.	SNX14_HUMAN	SNX14	HGNC	E2QRM8_HUMAN	.	UPI000013F8C8	SNV	SNX14,missense_variant,p.Tyr101Phe,ENST00000505648,;SNX14,missense_variant,p.Tyr152Phe,ENST00000514419,;SNX14,missense_variant,p.Tyr153Phe,ENST00000513865,;SNX14,missense_variant,p.Tyr153Phe,ENST00000369627,;SNX14,missense_variant,p.Tyr153Phe,ENST00000314673,;SNX14,missense_variant,p.Tyr80Phe,ENST00000515216,;SNX14,intron_variant,,ENST00000509338,;SNX14,intron_variant,,ENST00000346348,;SNX14,non_coding_transcript_exon_variant,,ENST00000508980,;SNX14,missense_variant,p.Tyr153Phe,ENST00000369635,;RP11-321N4.5,3_prime_UTR_variant,,ENST00000503906,;SNX14,non_coding_transcript_exon_variant,,ENST00000503491,;SNX14,intron_variant,,ENST00000513869,;	635	742	648	SUCCESS
FBXO24	26261	.	GRCh37	7	100189324	100189324	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	34	120	0	ENST00000241071.6:c.357C>A	p.Gly119=	p.G119=	ENST00000241071	NM_033506.2	119	ggC/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS5699.2	471	RADIA|SOMATICSNIPER|VARSCANS	.	GGAGGCCGCCG	NONE	.	.	hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846	.	.	ENSP00000416558	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000427939	Transcript	.	.	ENSG00000106336	13595	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FBX24_HUMAN	FBXO24	HGNC	.	.	UPI00017A803B	SNV	FBXO24,synonymous_variant,p.%3D,ENST00000360609,;FBXO24,synonymous_variant,p.%3D,ENST00000465843,;FBXO24,synonymous_variant,p.%3D,ENST00000427939,;FBXO24,synonymous_variant,p.%3D,ENST00000466053,;FBXO24,synonymous_variant,p.%3D,ENST00000241071,;FBXO24,synonymous_variant,p.%3D,ENST00000468962,;FBXO24,downstream_gene_variant,,ENST00000461079,;PCOLCE-AS1,intron_variant,,ENST00000442166,;PCOLCE-AS1,downstream_gene_variant,,ENST00000544873,;FBXO24,non_coding_transcript_exon_variant,,ENST00000498195,;FBXO24,missense_variant,p.Ala25Asp,ENST00000488079,;FBXO24,non_coding_transcript_exon_variant,,ENST00000474649,;	483	120	85	SUCCESS
CUX1	1523	.	GRCh37	7	101921227	101921227	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	30	159	1	ENST00000292538.4:c.1571G>T	p.Arg524Leu	p.R524L	ENST00000292538	NM_001913.3	524	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	.	CCDS47672.1	1565	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCGCCTGG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF15,Pfam_domain:PF08172	.	.	ENSP00000414091	.	18/23	.	.	.	.	.	.	.	.	.	18/23	PASS	ENST00000437600	Transcript	.	.	ENSG00000257923	2557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.17)	.	CASP_HUMAN	CUX1	HGNC	Q75MT4_HUMAN	.	UPI00001A95D6	SNV	CUX1,missense_variant,p.Arg522Leu,ENST00000437600,;CUX1,missense_variant,p.Arg508Leu,ENST00000547394,;CUX1,missense_variant,p.Arg524Leu,ENST00000292538,;CUX1,missense_variant,p.Arg478Leu,ENST00000425244,;CUX1,missense_variant,p.Arg87Leu,ENST00000487284,;CUX1,missense_variant,p.Arg485Leu,ENST00000393824,;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,;	1917	160	130	SUCCESS
RNF133	168433	.	GRCh37	7	122338822	122338822	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs749471581	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	107	0	ENST00000340112.2:c.151C>T	p.His51Tyr	p.H51Y	ENST00000340112	NM_139175.1	51	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS5784.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATGATTCC	NONE	.	.	hmmpanther:PTHR22765:SF38,hmmpanther:PTHR22765	.	.	ENSP00000344489	.	1/1	.	.	.	.	.	.	.	.	rs749471581	1/1	PASS	ENST00000340112	Transcript	.	.	ENSG00000188050	21154	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.091)	.	tolerated(0.06)	.	RN133_HUMAN	RNF133	HGNC	.	.	UPI0000070D9A	SNV	RNF133,missense_variant,p.His51Tyr,ENST00000340112,;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000449022,;CADPS2,intron_variant,,ENST00000313070,;CADPS2,intron_variant,,ENST00000412584,;RNF148,downstream_gene_variant,,ENST00000447240,;RNF148,downstream_gene_variant,,ENST00000434824,;	389	107	82	SUCCESS
DNAJB6	10049	.	GRCh37	7	157155909	157155909	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	52	154	0	ENST00000262177.4:c.120A>C	p.Glu40Asp	p.E40D	ENST00000262177	NM_058246.3	40	gaA/gaC	0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS5946.1	120	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGAAGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50076,hmmpanther:PTHR24077:SF238,hmmpanther:PTHR24077,Gene3D:1.10.287.110,Pfam_domain:PF00226,SMART_domains:SM00271,Superfamily_domains:SSF46565	.	.	ENSP00000262177	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000262177	Transcript	.	.	ENSG00000105993	14888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.769)	.	tolerated(0.08)	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,missense_variant,p.Glu40Asp,ENST00000417758,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000429029,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000453383,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000437030,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000439402,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000441561,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000412557,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000262177,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000443280,;DNAJB6,intron_variant,,ENST00000452797,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000486083,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000488001,;DNAJB6,missense_variant,p.Glu40Asp,ENST00000441291,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000459889,;	325	154	163	SUCCESS
LFNG	3955	.	GRCh37	7	2559888	2559888	+	synonymous_variant	Silent	SNP	C	C	T	rs984165635	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	714	316	1208	1	ENST00000222725.5:c.393C>T	p.Asp131=	p.D131=	ENST00000222725	NM_001040167.1	131	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS34587.1	393	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGACCTGCT	NONE	.	.	PIRSF_domain:PIRSF038073,Pfam_domain:PF02434,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF7	.	.	ENSP00000222725	.	1/8	.	.	.	.	.	.	.	.	rs759615996	1/8	PASS	ENST00000222725	Transcript	.	.	ENSG00000106003	6560	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LFNG_HUMAN	LFNG	HGNC	.	.	UPI000012E5D5	SNV	LFNG,synonymous_variant,p.%3D,ENST00000222725,;LFNG,synonymous_variant,p.%3D,ENST00000359574,;LFNG,intron_variant,,ENST00000402506,;LFNG,intron_variant,,ENST00000402045,;LFNG,intron_variant,,ENST00000338732,;LFNG,upstream_gene_variant,,ENST00000493850,;	413	1209	1030	SUCCESS
ZNF733P	643955	.	GRCh37	7	62752405	62752405	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	37	237	0	ENST00000444809.1:n.1064C>A		p.*355*	ENST00000444809				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGCATAG	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000444809	Transcript	.	.	ENSG00000185037	32473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF733P	HGNC	.	.	.	SNV	ZNF733P,non_coding_transcript_exon_variant,,ENST00000331425,;ZNF733P,non_coding_transcript_exon_variant,,ENST00000444809,;	1064	237	171	SUCCESS
RFC2	5982	.	GRCh37	7	73663436	73663436	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	43	0	ENST00000055077.3:c.238A>T	p.Thr80Ser	p.T80S	ENST00000055077	NM_001278792.1	80	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS5568.1	238	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGTTCCTG	NONE	.	.	hmmpanther:PTHR11669:SF5,hmmpanther:PTHR11669,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000055077	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000055077	Transcript	.	.	ENSG00000049541	9970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.236)	.	deleterious(0.04)	.	RFC2_HUMAN	RFC2	HGNC	F8WDC9_HUMAN	.	UPI000012516A	SNV	RFC2,missense_variant,p.Thr80Ser,ENST00000055077,;RFC2,missense_variant,p.Thr80Ser,ENST00000352131,;RFC2,missense_variant,p.Glu54Asp,ENST00000473493,;RFC2,3_prime_UTR_variant,,ENST00000479105,;RFC2,3_prime_UTR_variant,,ENST00000491206,;RFC2,3_prime_UTR_variant,,ENST00000470266,;RFC2,3_prime_UTR_variant,,ENST00000463194,;RFC2,3_prime_UTR_variant,,ENST00000493156,;RFC2,intron_variant,,ENST00000480432,;RFC2,intron_variant,,ENST00000494019,;	299	43	51	SUCCESS
RP1L1	94137	.	GRCh37	8	10466108	10466108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	50	0	ENST00000382483.3:c.5500G>A	p.Gly1834Ser	p.G1834S	ENST00000382483	NM_178857.5	1834	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS43708.1	5500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCCTTCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	.	.	ENSP00000371923	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000382483	Transcript	1	.	ENSG00000183638	15946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	RP1L1	HGNC	A6NKC6_HUMAN	.	UPI00001AF9CC	SNV	RP1L1,missense_variant,p.Gly1834Ser,ENST00000382483,;	5724	50	24	SUCCESS
DPYS	1807	.	GRCh37	8	105456619	105456619	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	82	0	ENST00000351513.2:c.650A>T	p.His217Leu	p.H217L	ENST00000351513	NM_001385.2	217	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS6302.1	650	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGTGGCCC	NONE	.	.	hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,Pfam_domain:PF01979,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556	.	.	ENSP00000276651	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000351513	Transcript	1	.	ENSG00000147647	3013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	DPYS_HUMAN	DPYS	HGNC	.	.	UPI000012986F	SNV	DPYS,missense_variant,p.His217Leu,ENST00000351513,;DPYS,downstream_gene_variant,,ENST00000521573,;DPYS,upstream_gene_variant,,ENST00000519217,;	783	82	82	SUCCESS
ASAP1	50807	.	GRCh37	8	131146576	131146576	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	75	0	ENST00000518721.1:c.1183C>T	p.His395Tyr	p.H395Y	ENST00000518721	NM_001247996.1	395	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS6362.1	1183	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGATATG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF192,hmmpanther:PTHR23180,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000350297	.	14/29	.	.	.	.	.	.	.	.	.	14/29	PASS	ENST00000357668	Transcript	.	.	ENSG00000153317	2720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.179)	.	deleterious(0)	.	ASAP1_HUMAN	ASAP1	HGNC	E5RFD9_HUMAN	.	UPI0000351D6E	SNV	ASAP1,missense_variant,p.His395Tyr,ENST00000518721,;ASAP1,missense_variant,p.His216Tyr,ENST00000524124,;ASAP1,missense_variant,p.His395Tyr,ENST00000357668,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;	1211	75	86	SUCCESS
JRK	8629	.	GRCh37	8	143746721	143746721	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs1554635606	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	25	95	0	ENST00000507178.2:n.1090G>A		p.*364*	ENST00000507178				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGCGACGG	NONE	.	.	.	.	.	.	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000507178	Transcript	1	.	ENSG00000234616	6199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	JRK	HGNC	.	.	.	SNV	JRK,non_coding_transcript_exon_variant,,ENST00000422119,;JRK,non_coding_transcript_exon_variant,,ENST00000507178,;JRK,non_coding_transcript_exon_variant,,ENST00000512113,;JRK,downstream_gene_variant,,ENST00000503272,;JRK,downstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000506774,;	1090	95	123	SUCCESS
PURG	29942	.	GRCh37	8	30890148	30890148	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	73	0	ENST00000475541.1:c.151G>A	p.Ala51Thr	p.A51T	ENST00000475541	NM_013357.2	51	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6081.1	151	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCCTGAT	NONE	.	.	hmmpanther:PTHR12611:SF3,hmmpanther:PTHR12611	.	.	ENSP00000418721	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000475541	Transcript	.	.	ENSG00000172733	17930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.25)	.	PURG_HUMAN	PURG	HGNC	K7ENC1_HUMAN	.	UPI000006F2C7	SNV	PURG,missense_variant,p.Ala51Thr,ENST00000475541,;PURG,missense_variant,p.Ala51Thr,ENST00000339382,;PURG,missense_variant,p.Ala51Thr,ENST00000523392,;WRN,upstream_gene_variant,,ENST00000298139,;	1084	73	45	SUCCESS
TTI2	80185	.	GRCh37	8	33356779	33356779	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	112	0	ENST00000360742.5:c.1439T>A	p.Ile480Asn	p.I480N	ENST00000360742	NM_025115.3	480	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS6090.1	1439	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGAATTTTG	NONE	.	.	hmmpanther:PTHR32226,hmmpanther:PTHR32226:SF1	.	.	ENSP00000411169	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000431156	Transcript	1	.	ENSG00000129696	26262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	deleterious(0)	.	TTI2_HUMAN	TTI2	HGNC	E5RHM7_HUMAN	.	UPI000013D26B	SNV	TTI2,missense_variant,p.Ile480Asn,ENST00000431156,;TTI2,missense_variant,p.Ile449Asn,ENST00000520636,;TTI2,missense_variant,p.Ile480Asn,ENST00000360742,;MAK16,3_prime_UTR_variant,,ENST00000360128,;TTI2,intron_variant,,ENST00000519356,;MAK16,downstream_gene_variant,,ENST00000518389,;	2058	112	74	SUCCESS
RP1	6101	.	GRCh37	8	55538752	55538752	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	384	18	278	1	ENST00000220676.1:c.2310T>C	p.Val770=	p.V770=	ENST00000220676	NM_006269.1	770	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS6160.1	2310	MUTECT|MUSE	.	AAGGTTCAAGG	BUFFER|p.S768F|c.2303C>T|3	.	.	hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	.	.	ENSP00000220676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,synonymous_variant,p.%3D,ENST00000220676,;	2458	279	402	SUCCESS
SLC26A7	115111	.	GRCh37	8	92406266	92406266	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	40	122	0	ENST00000276609.3:c.1934A>G	p.Lys645Arg	p.K645R	ENST00000276609	NM_052832.2	645	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6255.1	1934	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATAAGGTGA	NONE	.	.	hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814	.	.	ENSP00000309504	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.69)	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,missense_variant,p.Lys645Arg,ENST00000276609,;SLC26A7,missense_variant,p.Lys645Arg,ENST00000309536,;SLC26A7,missense_variant,p.Lys645Arg,ENST00000523719,;SLC26A7,splice_region_variant,,ENST00000520249,;SLC26A7,downstream_gene_variant,,ENST00000517930,;SLC26A7,splice_region_variant,,ENST00000522181,;	2154	123	149	SUCCESS
NCBP1	4686	.	GRCh37	9	100403939	100403963	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TACAGTGTATGTATGCAAAAGATTT	TACAGTGTATGTATGCAAAAGATTT	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	TACAGTGTATGTATGCAAAAGATTT	TACAGTGTATGTATGCAAAAGATTT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	66	0	ENST00000375147.3:c.219_224+19del		p.X73_splice	ENST00000375147	NM_002486.4	73		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6728.1	219-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTTTGTACAGTGTATGTATGCAAAAGATTTATGAA	NONE	.	.	.	.	.	ENSP00000364289	.	3/23	.	.	.	.	.	.	.	.	.	3/23	PASS	ENST00000375147	Transcript	.	.	ENSG00000136937	7658	.	.	HIGH	3/22	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NCBP1_HUMAN	NCBP1	HGNC	.	.	UPI0000112754	deletion	NCBP1,splice_donor_variant,,ENST00000375147,;NCBP1,splice_donor_variant,,ENST00000478100,;	475-?	66	56	SUCCESS
MSANTD3	91283	.	GRCh37	9	103212870	103212870	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs755534896	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	49	132	0	ENST00000395067.2:c.450C>A	p.Cys150Ter	p.C150*	ENST00000395067	NM_080655.2	150	tgC/tgA	0	.	.	.	.	.	A	C/*	protein_coding	YES	CCDS6749.1	450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCGATGA	NONE	.	.	hmmpanther:PTHR21632	.	.	ENSP00000378506	.	3/3	.	.	.	.	.	.	.	.	rs755534896	3/3	PASS	ENST00000395067	Transcript	.	.	ENSG00000066697	23370	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSD3_HUMAN	MSANTD3	HGNC	.	.	UPI000006CCC7	SNV	MSANTD3,stop_gained,p.Cys150Ter,ENST00000374886,;MSANTD3,stop_gained,p.Cys150Ter,ENST00000395067,;MSANTD3,3_prime_UTR_variant,,ENST00000374885,;TMEFF1,intron_variant,,ENST00000334943,;MSANTD3-TMEFF1,intron_variant,,ENST00000502978,;MSANTD3,non_coding_transcript_exon_variant,,ENST00000489377,;	721	132	124	SUCCESS
KIAA0368	0	.	GRCh37	9	114182326	114182326	+	synonymous_variant	Silent	SNP	T	T	C	rs925107346	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	36	151	0	ENST00000259335.4:c.2064A>G	p.Arg688=	p.R688=	ENST00000259335	NM_001080398.1	688	agA/agG	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS48006.1	2064	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATCTGGA	NONE	.	.	hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Gene3D:1.25.10.10,Pfam_domain:PF13001,Superfamily_domains:SSF48371	.	.	ENSP00000259335	.	17/51	.	.	.	.	.	.	.	.	.	17/51	PASS	ENST00000259335	Transcript	.	.	ENSG00000136813	29020	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KIAA0368	HGNC	J3KN16_HUMAN	.	UPI0000DD7F7A	SNV	KIAA0368,synonymous_variant,p.%3D,ENST00000338205,;KIAA0368,synonymous_variant,p.%3D,ENST00000602447,;KIAA0368,synonymous_variant,p.%3D,ENST00000259335,;	2064	151	121	SUCCESS
TNC	3371	.	GRCh37	9	117848857	117848857	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	8	40	0	ENST00000350763.4:c.1153G>A	p.Gly385Ser	p.G385S	ENST00000350763	NM_002160.3	385	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS6811.1	1153	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCCACGAT	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Gene3D:2gy5A03,Pfam_domain:PF07974,SMART_domains:SM00181	.	.	ENSP00000265131	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000350763	Transcript	.	.	ENSG00000041982	5318	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TENA_HUMAN	TNC	HGNC	F5H5D6_HUMAN	.	UPI000013D5BD	SNV	TNC,missense_variant,p.Gly385Ser,ENST00000345230,;TNC,missense_variant,p.Gly385Ser,ENST00000542877,;TNC,missense_variant,p.Gly385Ser,ENST00000346706,;TNC,missense_variant,p.Gly385Ser,ENST00000537320,;TNC,missense_variant,p.Gly385Ser,ENST00000341037,;TNC,missense_variant,p.Gly385Ser,ENST00000350763,;TNC,missense_variant,p.Gly385Ser,ENST00000535648,;TNC,missense_variant,p.Gly385Ser,ENST00000340094,;TNC,missense_variant,p.Gly385Ser,ENST00000423613,;TNC,downstream_gene_variant,,ENST00000534839,;	1565	40	59	SUCCESS
SPATA31A3	727830	.	GRCh37	9	40702834	40702834	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	37	203	0	ENST00000356699.5:c.491A>T	p.Asp164Val	p.D164V	ENST00000356699	NM_001083124.1	164	gAt/gTt	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS47969.1	491	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGATCTGG	NONE	.	.	hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859	.	.	ENSP00000349132	.	4/4	.	.	.	.	.	.	.	.	COSM608825,COSM608826	4/4	PASS	ENST00000356699	Transcript	.	.	ENSG00000147926	32003	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1,1	.	.	probably_damaging(0.972)	.	tolerated(0.41)	1,1	S31A3_HUMAN	SPATA31A3	HGNC	.	.	UPI00004588FC	SNV	SPATA31A3,missense_variant,p.Asp164Val,ENST00000356699,;RP11-395E19.5,downstream_gene_variant,,ENST00000432614,;SPATA31A3,non_coding_transcript_exon_variant,,ENST00000463536,;	520	203	187	SUCCESS
NTRK2	4915	.	GRCh37	9	87359941	87359941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	41	168	0	ENST00000277120.3:c.1249A>T	p.Ile417Phe	p.I417F	ENST00000277120		417	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS6671.1	1249	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAAATCCCT	NONE	.	.	hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416	.	.	ENSP00000365387	.	13/21	.	.	.	.	.	.	.	.	.	13/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.71)	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,missense_variant,p.Ile417Phe,ENST00000323115,;NTRK2,missense_variant,p.Ile261Phe,ENST00000395866,;NTRK2,missense_variant,p.Ile417Phe,ENST00000395882,;NTRK2,missense_variant,p.Ile417Phe,ENST00000376213,;NTRK2,missense_variant,p.Ile417Phe,ENST00000376208,;NTRK2,missense_variant,p.Ile417Phe,ENST00000277120,;NTRK2,missense_variant,p.Ile417Phe,ENST00000376214,;NTRK2,missense_variant,p.Ile417Phe,ENST00000359847,;NTRK2,missense_variant,p.Ile417Phe,ENST00000304053,;	2187	168	159	SUCCESS
ARMCX3	51566	.	GRCh37	X	100880946	100880946	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	229	150	0	ENST00000341189.4:c.977A>G	p.Asn326Ser	p.N326S	ENST00000341189	NM_016607.3	326	aAt/aGt	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS14489.1	977	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAATCAAT	NONE	.	.	hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF8,Pfam_domain:PF04826	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.58)	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	SNV	ARMCX3,missense_variant,p.Asn326Ser,ENST00000471229,;ARMCX3,missense_variant,p.Asn326Ser,ENST00000341189,;ARMCX3,missense_variant,p.Asn326Ser,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3,downstream_gene_variant,,ENST00000491568,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	1843	150	278	SUCCESS
SMIM10	644538	.	GRCh37	X	134125216	134125216	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	60	69	0	ENST00000330288.4:c.91C>A	p.Arg31Ser	p.R31S	ENST00000330288	NM_001163438.1	31	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS55502.1	91	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCGCGCCCG	NONE	.	.	Pfam_domain:PF15118	.	.	ENSP00000328335	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330288	Transcript	.	.	ENSG00000184785	41913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.708)	.	tolerated(0.35)	.	SIM10_HUMAN	SMIM10	HGNC	.	.	UPI00003FCD5A	SNV	SMIM10,missense_variant,p.Arg31Ser,ENST00000330288,;	249	69	134	SUCCESS
SLITRK4	139065	.	GRCh37	X	142718337	142718339	+	frameshift_variant	Frame_Shift_Ins	INS	GAT	GAT	CAAA	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	GAT	GAT	.	.	.	.	.	.	.	.	.	.	.	.	.	59	109	148	0	ENST00000338017.4:c.586_588delinsTTTG	p.Ile196PhefsTer12	p.I196Ffs*12	ENST00000338017		196	ATC/TTTG	0	.	.	.	.	.	CAAA	I/FX	protein_coding	YES	CCDS14679.1	586-588	INDELOCATOR*|MUSE*|MUTECT*|PINDEL	.	AACCCCGATATAAG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058	.	.	ENSP00000371198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381779	Transcript	.	.	ENSG00000179542	23502	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SLIK4_HUMAN	SLITRK4	HGNC	.	.	UPI000004E650	substitution	SLITRK4,frameshift_variant,p.Ile196PhefsTer12,ENST00000381779,;SLITRK4,frameshift_variant,p.Ile196PhefsTer12,ENST00000338017,;SLITRK4,frameshift_variant,p.Ile196PhefsTer12,ENST00000356928,;	812-814	148	168	SUCCESS
CNGA2	1260	.	GRCh37	X	150912121	150912121	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	26	43	0	ENST00000329903.4:c.1146G>T	p.Arg382=	p.R382=	ENST00000329903	NM_005140.1	382	cgG/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS14701.1	1146	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCGGGCAGA	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF389,Gene3D:3bpzA01,Superfamily_domains:SSF51206	.	.	ENSP00000328478	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000329903	Transcript	.	.	ENSG00000183862	2149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGA2_HUMAN	CNGA2	HGNC	.	.	UPI000003E7AE	SNV	CNGA2,synonymous_variant,p.%3D,ENST00000329903,;	1179	43	63	SUCCESS
CNGA2	1260	.	GRCh37	X	150912140	150912140	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	45	42	0	ENST00000329903.4:c.1165A>G	p.Ile389Val	p.I389V	ENST00000329903	NM_005140.1	389	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS14701.1	1165	RADIA|MUTECT|MUSE	.	CTAAGATCGAT	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF389,Gene3D:3bpzA01,Superfamily_domains:SSF51206	.	.	ENSP00000328478	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000329903	Transcript	.	.	ENSG00000183862	2149	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.038)	.	tolerated(0.33)	.	CNGA2_HUMAN	CNGA2	HGNC	.	.	UPI000003E7AE	SNV	CNGA2,missense_variant,p.Ile389Val,ENST00000329903,;	1198	42	59	SUCCESS
AP1S2	8905	.	GRCh37	X	15864090	15864090	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	181	350	1	ENST00000329235.2:c.224A>G	p.Asn75Ser	p.N75S	ENST00000329235	NM_003916.4	75	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS14173.1	224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCATTGTCC	NONE	.	.	hmmpanther:PTHR11753:SF8,hmmpanther:PTHR11753,Pfam_domain:PF01217,Gene3D:3.30.450.60,PIRSF_domain:PIRSF015588,Superfamily_domains:SSF64356	.	.	ENSP00000328789	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000329235	Transcript	.	.	ENSG00000182287	560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.377)	.	deleterious(0.04)	.	AP1S2_HUMAN	AP1S2	HGNC	Q549M9_HUMAN	.	UPI0000124FEC	SNV	AP1S2,missense_variant,p.Asn75Ser,ENST00000380291,;AP1S2,missense_variant,p.Asn72Ser,ENST00000452376,;AP1S2,missense_variant,p.Asn117Ser,ENST00000421527,;AP1S2,missense_variant,p.Asn75Ser,ENST00000329235,;AP1S2,missense_variant,p.Asn68Ser,ENST00000450644,;AP1S2,missense_variant,p.Asn117Ser,ENST00000545766,;AP1S2,upstream_gene_variant,,ENST00000479184,;	468	351	278	SUCCESS
RPS6KA3	6197	.	GRCh37	X	20187600	20187600	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	68	0	ENST00000379565.3:c.1363A>T	p.Lys455Ter	p.K455*	ENST00000379565	NM_004586.2	455	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS14197.1	1363	MUTECT|MUSE|VARSCANS	.	GCTTTTATCAA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	.	.	ENSP00000368884	.	16/22	.	.	.	.	.	.	.	.	.	16/22	PASS	ENST00000379565	Transcript	.	.	ENSG00000177189	10432	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KS6A3_HUMAN	RPS6KA3	HGNC	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN	.	UPI000012DB2E	SNV	RPS6KA3,stop_gained,p.Lys425Ter,ENST00000379548,;RPS6KA3,stop_gained,p.Lys455Ter,ENST00000379565,;RPS6KA3,stop_gained,p.Lys426Ter,ENST00000540702,;RPS6KA3,stop_gained,p.Lys427Ter,ENST00000544447,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000479809,;	1571	68	60	SUCCESS
XG	7499	.	GRCh37	X	2724766	2724766	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	174	26	233	0	ENST00000381174.5:c.374-1460C>T		p.*125*	ENST00000381174		133		0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS48073.1	398	RADIA|MUTECT|MUSE|VARSCANS	.	CAACTCTCGTT	NONE	.	.	hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF4,Pfam_domain:PF12301	.	.	ENSP00000411004	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000419513	Transcript	.	.	ENSG00000124343	12806	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.011)	.	tolerated(0.16)	.	XG_HUMAN	XG	HGNC	Q496P1_HUMAN	.	UPI0000D61D1F	SNV	XG,missense_variant,p.Ser133Phe,ENST00000419513,;XG,intron_variant,,ENST00000426774,;XG,intron_variant,,ENST00000381174,;XG,intron_variant,,ENST00000509484,;XG,intron_variant,,ENST00000519244,;	621	233	200	SUCCESS
ZNF630	57232	.	GRCh37	X	47918452	47918452	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	32	48	0	ENST00000409324.3:c.1379T>C	p.Val460Ala	p.V460A	ENST00000409324	NM_001037735.2	460	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS35237.2	1379	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACACATAA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF216,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000386393	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409324	Transcript	.	.	ENSG00000221994	28855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.197)	.	tolerated(0.73)	.	ZN630_HUMAN	ZNF630	HGNC	B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN	.	UPI0000160BE4	SNV	ZNF630,missense_variant,p.Val460Ala,ENST00000409324,;ZNF630,missense_variant,p.Val336Ala,ENST00000276054,;ZNF630,missense_variant,p.Val446Ala,ENST00000442455,;ZNF630,downstream_gene_variant,,ENST00000421903,;ZNF630,downstream_gene_variant,,ENST00000428686,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,intron_variant,,ENST00000428463,;	1606	48	54	SUCCESS
TEX11	56159	.	GRCh37	X	69960592	69960592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	84	163	0	ENST00000344304.3:c.847T>C	p.Tyr283His	p.Y283H	ENST00000344304		283	Tat/Cat	0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS35323.1	847	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATATTTGG	NONE	.	.	hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631	.	.	ENSP00000379226	.	12/31	.	.	.	.	.	.	.	.	.	12/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated(0.17)	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,missense_variant,p.Tyr268His,ENST00000374333,;TEX11,missense_variant,p.Tyr283His,ENST00000395889,;TEX11,missense_variant,p.Tyr283His,ENST00000344304,;	1003	163	140	SUCCESS
ITM2A	9452	.	GRCh37	X	78616864	78616864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1394128672	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	54	258	0	ENST00000373298.2:c.665G>A	p.Arg222Lys	p.R222K	ENST00000373298	NM_004867.4	222	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS14444.1	665	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTCTGTTA	NONE	.	.	PROSITE_profiles:PS50869,hmmpanther:PTHR10962,hmmpanther:PTHR10962:SF7,Pfam_domain:PF04089,SMART_domains:SM01039	.	.	ENSP00000362395	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000373298	Transcript	.	.	ENSG00000078596	6173	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(1)	.	ITM2A_HUMAN	ITM2A	HGNC	.	.	UPI000000D98A	SNV	ITM2A,missense_variant,p.Arg222Lys,ENST00000373298,;ITM2A,missense_variant,p.Arg178Lys,ENST00000434584,;ITM2A,non_coding_transcript_exon_variant,,ENST00000469541,;ITM2A,downstream_gene_variant,,ENST00000482194,;ITM2A,downstream_gene_variant,,ENST00000462038,;	809	258	284	SUCCESS
SORCS1	114815	.	GRCh37	10	108339004	108339004	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	55	0	ENST00000263054.6:c.3371+123T>C		p.*1124*	ENST00000263054	NM_001206570.1	1126		0	.	.	.	.	.	G	I/T	protein_coding	YES	CCDS31283.1	3377	MUTECT|MUSE	.	CCGGGATCTTC	NONE	.	.	hmmpanther:PTHR12106:SF8,hmmpanther:PTHR12106	.	.	ENSP00000345964	.	26/27	.	.	.	.	.	.	.	.	.	26/27	PASS	ENST00000344440	Transcript	.	.	ENSG00000108018	16697	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.791)	.	deleterious(0.01)	.	SORC1_HUMAN	SORCS1	HGNC	B3KVZ0_HUMAN	.	UPI000036671B	SNV	SORCS1,missense_variant,p.Ile661Thr,ENST00000369698,;SORCS1,missense_variant,p.Ile141Thr,ENST00000452214,;SORCS1,missense_variant,p.Ile1126Thr,ENST00000344440,;SORCS1,intron_variant,,ENST00000263054,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	3377	55	73	SUCCESS
MYO3A	53904	.	GRCh37	10	26462696	26462696	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773735595	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	72	168	0	ENST00000265944.5:c.3503C>A	p.Thr1168Asn	p.T1168N	ENST00000265944	NM_017433.4	1168	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS7148.1	3503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTTTCA	NONE	byFrequency	.	hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	.	.	ENSP00000265944	.	30/35	.	.	.	.	.	.	.	.	rs773735595	30/35	PASS	ENST00000265944	Transcript	1	.	ENSG00000095777	7601	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.5)	.	MYO3A_HUMAN	MYO3A	HGNC	.	.	UPI000014140A	SNV	MYO3A,missense_variant,p.Thr1168Asn,ENST00000265944,;MYO3A,intron_variant,,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000477691,;	3669	168	211	SUCCESS
LRRC20	55222	.	GRCh37	10	72061218	72061218	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	38	0	ENST00000355790.4:c.447C>T	p.Ile149=	p.I149=	ENST00000355790	NM_207119.2	149	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS7302.1	447	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTGATGCT	NONE	.	.	hmmpanther:PTHR16083:SF2,hmmpanther:PTHR16083,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	.	.	ENSP00000348043	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355790	Transcript	.	.	ENSG00000172731	23421	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC20_HUMAN	LRRC20	HGNC	.	.	UPI000004C613	SNV	LRRC20,synonymous_variant,p.%3D,ENST00000446961,;LRRC20,synonymous_variant,p.%3D,ENST00000358141,;LRRC20,synonymous_variant,p.%3D,ENST00000395011,;LRRC20,synonymous_variant,p.%3D,ENST00000357631,;LRRC20,synonymous_variant,p.%3D,ENST00000355790,;LRRC20,synonymous_variant,p.%3D,ENST00000373224,;LRRC20,synonymous_variant,p.%3D,ENST00000395010,;	925	38	52	SUCCESS
PAPSS2	9060	.	GRCh37	10	89419662	89419663	+	5_prime_UTR_variant	5'UTR	INS	-	-	GCC	rs1554860724	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	108	35	107	0	ENST00000361175.4:c.-60_-58dup		p.*20*	ENST00000361175	NM_004670.3			0	.	.	.	.	.	GCC	.	protein_coding	YES	CCDS44453.1	.	INDELOCATOR|VARSCANI	.	GCTGCTGCCGC	NONE	.	.	.	.	.	ENSP00000406157	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000456849	Transcript	1	.	ENSG00000198682	8604	19	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAPS2_HUMAN	PAPSS2	HGNC	.	.	UPI000002B182	insertion	PAPSS2,5_prime_UTR_variant,,ENST00000456849,;PAPSS2,5_prime_UTR_variant,,ENST00000361175,;PAPSS2,upstream_gene_variant,,ENST00000427144,;RP11-57C13.6,downstream_gene_variant,,ENST00000438082,;RP11-57C13.3,non_coding_transcript_exon_variant,,ENST00000354527,;PAPSS2,upstream_gene_variant,,ENST00000482258,;PAPSS2,upstream_gene_variant,,ENST00000465996,;	187-188	107	143	SUCCESS
TRPC6	7225	.	GRCh37	11	101323743	101323743	+	synonymous_variant	Silent	SNP	A	A	G	rs756864306	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	54	115	1	ENST00000344327.3:c.2739T>C	p.Ile913=	p.I913=	ENST00000344327	NM_004621.5	913	atT/atC	0	.	.	.	.	.	G	I	protein_coding	YES	CCDS8311.1	2739	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTAATAAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7	.	.	ENSP00000340913	.	13/13	.	.	.	.	.	.	.	.	rs756864306	13/13	PASS	ENST00000344327	Transcript	.	.	ENSG00000137672	12338	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC6_HUMAN	TRPC6	HGNC	B3KNL3_HUMAN	.	UPI00001374BA	SNV	TRPC6,synonymous_variant,p.%3D,ENST00000532133,;TRPC6,synonymous_variant,p.%3D,ENST00000348423,;TRPC6,synonymous_variant,p.%3D,ENST00000344327,;TRPC6,synonymous_variant,p.%3D,ENST00000360497,;TRPC6,downstream_gene_variant,,ENST00000532184,;	3164	116	152	SUCCESS
C11orf57	0	.	GRCh37	11	111951423	111951423	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	14	0	ENST00000393047.3:c.320+141A>C		p.*107*	ENST00000393047				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8356.2	.	MUTECT|MUSE	.	CAAGTAATCCA	NONE	.	.	.	.	.	ENSP00000376767	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393047	Transcript	.	.	ENSG00000150776	25569	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK057_HUMAN	C11orf57	HGNC	E9PQL5_HUMAN,E9PKA8_HUMAN	.	UPI00001FA363	SNV	C11orf57,3_prime_UTR_variant,,ENST00000530104,;C11orf57,intron_variant,,ENST00000280352,;C11orf57,intron_variant,,ENST00000531378,;C11orf57,intron_variant,,ENST00000532163,;C11orf57,intron_variant,,ENST00000525785,;C11orf57,intron_variant,,ENST00000420986,;C11orf57,intron_variant,,ENST00000393047,;C11orf57,downstream_gene_variant,,ENST00000526879,;TIMM8B,downstream_gene_variant,,ENST00000504148,;TIMM8B,downstream_gene_variant,,ENST00000541231,;TIMM8B,downstream_gene_variant,,ENST00000507614,;C11orf57,intron_variant,,ENST00000524989,;TIMM8B,downstream_gene_variant,,ENST00000509359,;	.	14	21	SUCCESS
SIDT2	51092	.	GRCh37	11	117066535	117066535	+	synonymous_variant	Silent	SNP	G	G	C	rs777894432	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	38	53	1	ENST00000324225.4:c.2340G>C	p.Ser780=	p.S780=	ENST00000324225	NM_001040455.1	780	tcG/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31682.1	2340	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTCGAGGGA	NONE	.	.	hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16,Pfam_domain:PF13965	.	.	ENSP00000314023	.	25/26	.	.	.	.	.	.	.	.	rs777894432	25/26	PASS	ENST00000324225	Transcript	.	.	ENSG00000149577	24272	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIDT2_HUMAN	SIDT2	HGNC	G3V172_HUMAN,E9PPN9_HUMAN,E9PME7_HUMAN,E9PMC3_HUMAN	.	UPI000004BA68	SNV	SIDT2,synonymous_variant,p.%3D,ENST00000532062,;SIDT2,synonymous_variant,p.%3D,ENST00000324225,;SIDT2,synonymous_variant,p.%3D,ENST00000525478,;SIDT2,synonymous_variant,p.%3D,ENST00000278951,;SIDT2,synonymous_variant,p.%3D,ENST00000431081,;TAGLN,upstream_gene_variant,,ENST00000525531,;TAGLN,upstream_gene_variant,,ENST00000278968,;TAGLN,upstream_gene_variant,,ENST00000529792,;TAGLN,upstream_gene_variant,,ENST00000392951,;SIDT2,downstream_gene_variant,,ENST00000525339,;SIDT2,downstream_gene_variant,,ENST00000529484,;SIDT2,downstream_gene_variant,,ENST00000525065,;SIDT2,downstream_gene_variant,,ENST00000529441,;SIDT2,downstream_gene_variant,,ENST00000526813,;	2871	54	90	SUCCESS
ZNF202	7753	.	GRCh37	11	123599920	123599920	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	28	0	ENST00000336139.4:c.616G>T	p.Val206Phe	p.V206F	ENST00000336139		206	Gtc/Ttc	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS8443.1	616	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACCTCTA	NONE	.	.	hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194	.	.	ENSP00000337724	.	5/8	.	.	.	.	.	.	.	.	.	5/8	PASS	ENST00000336139	Transcript	.	.	ENSG00000166261	12994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.157)	.	tolerated(0.22)	.	ZN202_HUMAN	ZNF202	HGNC	E9PM99_HUMAN,E9PJL4_HUMAN	.	UPI000013E581	SNV	ZNF202,missense_variant,p.Val206Phe,ENST00000529691,;ZNF202,missense_variant,p.Val206Phe,ENST00000336139,;ZNF202,missense_variant,p.Val206Phe,ENST00000530393,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000529250,;ZNF202,downstream_gene_variant,,ENST00000530944,;	979	28	45	SUCCESS
OR5L1	219437	.	GRCh37	11	55579715	55579715	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	31	66	0	ENST00000333973.2:c.773T>G	p.Ile258Ser	p.I258S	ENST00000333973	NM_001004738.1	258	aTt/aGt	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS31509.1	773	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATTTATT	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF154,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000335529	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333973	Transcript	.	.	ENSG00000186117	8350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.052)	.	tolerated(0.06)	.	OR5L1_HUMAN	OR5L1	HGNC	.	.	UPI0000041864	SNV	OR5L1,missense_variant,p.Ile258Ser,ENST00000333973,;	862	66	106	SUCCESS
OR5M11	219487	.	GRCh37	11	56310259	56310259	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	39	91	0	ENST00000528616.2:c.475G>T	p.Ala159Ser	p.A159S	ENST00000528616	NM_001005245.1	159	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS53629.1	475	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCCTGGA	NONE	.	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452:SF97,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000432417	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000528616	Transcript	.	.	ENSG00000255223	15291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.05)	.	OR5MB_HUMAN	OR5M11	HGNC	.	.	UPI00000405CF	SNV	OR5M11,missense_variant,p.Ala159Ser,ENST00000528616,;	499	92	144	SUCCESS
TCN1	6947	.	GRCh37	11	59634034	59634034	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	6	46	0	ENST00000257264.3:c.-91G>A		p.*31*	ENST00000257264	NM_001062.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7978.1	.	MUTECT|MUSE	.	GGTTGCCTCAG	NONE	.	.	.	.	.	ENSP00000257264	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000257264	Transcript	.	.	ENSG00000134827	11652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TCO1_HUMAN	TCN1	HGNC	.	.	UPI000013CF55	SNV	TCN1,5_prime_UTR_variant,,ENST00000257264,;TCN1,upstream_gene_variant,,ENST00000532419,;TCN1,upstream_gene_variant,,ENST00000533734,;TCN1,upstream_gene_variant,,ENST00000534531,;	15	46	49	SUCCESS
HEPHL1	341208	.	GRCh37	11	93836112	93836112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	62	0	ENST00000315765.9:c.2608A>G	p.Lys870Glu	p.K870E	ENST00000315765	NM_001098672.1	870	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS44710.1	2608	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTAAAAGA	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07732,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000313699	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000315765	Transcript	.	.	ENSG00000181333	30477	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.04)	.	tolerated(1)	.	HPHL1_HUMAN	HEPHL1	HGNC	.	.	UPI0000237563	SNV	HEPHL1,missense_variant,p.Lys870Glu,ENST00000315765,;	2616	62	81	SUCCESS
CCDC53	0	.	GRCh37	12	102455087	102455087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	55	108	0	ENST00000240079.6:c.89T>C	p.Leu30Pro	p.L30P	ENST00000240079	NM_016053.2	30	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS44959.1	89	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTAGAAAA	NONE	.	.	hmmpanther:PTHR13015:SF0,hmmpanther:PTHR13015,Pfam_domain:PF10152	.	.	ENSP00000240079	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000240079	Transcript	.	.	ENSG00000120860	24256	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CCD53_HUMAN	CCDC53	HGNC	F5H0A7_HUMAN	.	UPI00001254D2	SNV	CCDC53,missense_variant,p.Leu30Pro,ENST00000545679,;CCDC53,missense_variant,p.Leu30Pro,ENST00000240079,;RP11-554E23.4,upstream_gene_variant,,ENST00000552707,;CCDC53,non_coding_transcript_exon_variant,,ENST00000536930,;CCDC53,non_coding_transcript_exon_variant,,ENST00000539515,;CCDC53,missense_variant,p.Leu30Pro,ENST00000535501,;CCDC53,missense_variant,p.Leu30Pro,ENST00000500685,;CCDC53,missense_variant,p.Leu30Pro,ENST00000544341,;CCDC53,missense_variant,p.Leu30Pro,ENST00000538761,;CCDC53,missense_variant,p.Leu30Pro,ENST00000540536,;CCDC53,non_coding_transcript_exon_variant,,ENST00000541569,;CCDC53,non_coding_transcript_exon_variant,,ENST00000326351,;	251	108	146	SUCCESS
C12orf76	400073	.	GRCh37	12	110496826	110496826	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs763889596	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	60	144	0	ENST00000309050.5:c.158T>A	p.Ile53Asn	p.I53N	ENST00000309050	NM_207435.1	53	aTt/aAt	0	.	.	.	.	.	T	I/N	protein_coding	YES	CCDS9141.1	158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAATGAAG	NONE	.	.	.	.	.	ENSP00000308368	.	3/5	.	.	.	.	.	.	.	.	rs763889596	3/5	PASS	ENST00000309050	Transcript	.	.	ENSG00000174456	33790	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	deleterious_low_confidence(0)	.	CL076_HUMAN	C12orf76	HGNC	.	.	UPI00000732B3	SNV	C12orf76,missense_variant,p.Ile53Asn,ENST00000309050,;C12orf76,intron_variant,,ENST00000548191,;C12orf76,intron_variant,,ENST00000548936,;	523	144	198	SUCCESS
PTPN11	5781	.	GRCh37	12	112915714	112915714	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	74	156	0	ENST00000351677.2:c.987C>A	p.Ala329=	p.A329=	ENST00000351677	NM_002834.3	329	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS9163.1	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCCACACA	NONE	.	.	PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF000929,Superfamily_domains:SSF52799,Prints_domain:PR00700	.	.	ENSP00000340944	.	9/16	.	.	.	.	.	.	.	.	.	9/16	PASS	ENST00000351677	Transcript	.	.	ENSG00000179295	9644	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN11_HUMAN	PTPN11	HGNC	B3GUD4_HUMAN,B3GUD3_HUMAN	.	UPI000013296E	SNV	PTPN11,synonymous_variant,p.%3D,ENST00000351677,;PTPN11,synonymous_variant,p.%3D,ENST00000392597,;	1185	156	187	SUCCESS
LRRC43	254050	.	GRCh37	12	122667682	122667682	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	44	0	ENST00000339777.4:c.-10G>A		p.*4*	ENST00000339777	NM_152759.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45001.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGCGGCCCG	NONE	.	.	.	.	.	ENSP00000344233	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000339777	Transcript	.	.	ENSG00000158113	28562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC43_HUMAN	LRRC43	HGNC	F5H0N3_HUMAN	.	UPI00015347BE	SNV	LRRC43,5_prime_UTR_variant,,ENST00000339777,;LRRC43,5_prime_UTR_variant,,ENST00000425921,;LRRC43,intron_variant,,ENST00000537729,;LRRC43,non_coding_transcript_exon_variant,,ENST00000541498,;LRRC43,upstream_gene_variant,,ENST00000538800,;LRRC43,intron_variant,,ENST00000537113,;	19	44	56	SUCCESS
BHLHE41	79365	.	GRCh37	12	26275865	26275865	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	47	112	0	ENST00000242728.4:c.583G>A	p.Ala195Thr	p.A195T	ENST00000242728	NM_030762.2	195	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS8706.1	583	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCCGAGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10985:SF76,hmmpanther:PTHR10985	.	.	ENSP00000242728	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000242728	Transcript	.	.	ENSG00000123095	16617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.081)	.	tolerated(0.39)	.	BHE41_HUMAN	BHLHE41	HGNC	.	.	UPI0000052B52	SNV	BHLHE41,missense_variant,p.Ala195Thr,ENST00000242728,;SSPN,intron_variant,,ENST00000538142,;RP11-283G6.3,downstream_gene_variant,,ENST00000545819,;RP11-283G6.3,downstream_gene_variant,,ENST00000535914,;SSPN,intron_variant,,ENST00000534829,;BHLHE41,downstream_gene_variant,,ENST00000394326,;BHLHE41,downstream_gene_variant,,ENST00000541271,;	931	112	149	SUCCESS
PRMT8	56341	.	GRCh37	12	3692299	3692299	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs866613000	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	38	63	0	ENST00000382622.3:c.904G>A	p.Asp302Asn	p.D302N	ENST00000382622	NM_019854.4	302	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS8521.2	904	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACGACTAC	NONE	.	.	Superfamily_domains:SSF53335,Gene3D:2.70.160.11,hmmpanther:PTHR11006:SF47,hmmpanther:PTHR11006,PROSITE_profiles:PS51678	.	.	ENSP00000372067	.	8/10	.	.	.	.	.	.	.	.	COSM3460341,COSM3460342	8/10	PASS	ENST00000382622	Transcript	.	.	ENSG00000111218	5188	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.872)	.	deleterious(0)	1,1	ANM8_HUMAN	PRMT8	HGNC	.	.	UPI00005B2E00	SNV	PRMT8,missense_variant,p.Asp293Asn,ENST00000452611,;PRMT8,missense_variant,p.Asp302Asn,ENST00000382622,;PRMT8,non_coding_transcript_exon_variant,,ENST00000261252,;PRMT8,non_coding_transcript_exon_variant,,ENST00000543701,;	1294	63	101	SUCCESS
TPP2	7174	.	GRCh37	13	103268744	103268744	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	52	72	0	ENST00000376065.4:c.391-2A>T		p.X131_splice	ENST00000376065	NM_003291.2	131		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9502.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCAGAAAG	NONE	.	.	.	.	.	ENSP00000365233	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376065	Transcript	.	.	ENSG00000134900	12016	.	.	HIGH	3/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPP2_HUMAN	TPP2	HGNC	.	.	UPI0000001C91	SNV	TPP2,splice_acceptor_variant,,ENST00000376052,;TPP2,splice_acceptor_variant,,ENST00000376065,;	.	72	123	SUCCESS
FAM155A	728215	.	GRCh37	13	107822876	107822876	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs767026891	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	20	0	ENST00000375915.2:c.1346C>A	p.Thr449Lys	p.T449K	ENST00000375915	NM_001080396.2	449	aCg/aAg	0	.	.	.	.	.	T	T/K	protein_coding	YES	CCDS32006.1	1346	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCGTGTTG	NONE	.	.	hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2	.	.	ENSP00000365080	.	3/3	.	.	.	.	.	.	.	.	rs767026891	3/3	PASS	ENST00000375915	Transcript	.	.	ENSG00000204442	33877	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.087)	.	deleterious(0.02)	.	F155A_HUMAN	FAM155A	HGNC	.	.	UPI000045882C	SNV	FAM155A,missense_variant,p.Thr449Lys,ENST00000375915,;	1485	20	40	SUCCESS
ING1	3621	.	GRCh37	13	111367802	111367802	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	52	0	ENST00000375774.3:c.12G>T	p.Val4=	p.V4=	ENST00000375774	NM_005537.4	4	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS9517.1	12	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTGGAATG	NONE	.	.	.	.	.	ENSP00000364929	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000375774	Transcript	.	.	ENSG00000153487	6062	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ING1_HUMAN	ING1	HGNC	.	.	UPI000013DD4A	SNV	ING1,synonymous_variant,p.%3D,ENST00000375774,;ING1,intron_variant,,ENST00000338450,;ING1,intron_variant,,ENST00000333219,;ING1,intron_variant,,ENST00000375775,;ING1,non_coding_transcript_exon_variant,,ENST00000464141,;CARS2,upstream_gene_variant,,ENST00000544488,;CARS2,upstream_gene_variant,,ENST00000535398,;CARS2,upstream_gene_variant,,ENST00000542126,;CARS2,upstream_gene_variant,,ENST00000537412,;CARS2,upstream_gene_variant,,ENST00000540629,;CARS2,upstream_gene_variant,,ENST00000485188,;	474	52	67	SUCCESS
POLR1D	51082	.	GRCh37	13	28197262	28197262	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	255	119	245	0	ENST00000302979.3:c.277G>T	p.Val93Phe	p.V93F	ENST00000302979	NM_015972.3	93	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9325.1	277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCTGTTGAG	NONE	.	.	hmmpanther:PTHR13946,hmmpanther:PTHR13946:SF16,Gene3D:3.30.1360.10,Pfam_domain:PF13656,Superfamily_domains:SSF55257	.	.	ENSP00000302478	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302979	Transcript	.	.	ENSG00000186184	20422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.131)	.	tolerated(0.08)	.	RPAC2_HUMAN	POLR1D	HGNC	.	.	UPI00001345BE	SNV	POLR1D,missense_variant,p.Val93Phe,ENST00000302979,;POLR1D,missense_variant,p.Val93Phe,ENST00000399696,;POLR1D,intron_variant,,ENST00000399697,;LNX2,upstream_gene_variant,,ENST00000316334,;POLR1D,intron_variant,,ENST00000489647,;POLR1D,intron_variant,,ENST00000465887,;	1299	246	374	SUCCESS
BRCA2	675	.	GRCh37	13	32936724	32936724	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	32	108	0	ENST00000380152.3:c.7870T>A	p.Tyr2624Asn	p.Y2624N	ENST00000380152		2624	Tat/Aat	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS9344.1	7870	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACTATAGA	NONE	.	.	hmmpanther:PTHR11289:SF0,hmmpanther:PTHR11289,Pfam_domain:PF09169,PIRSF_domain:PIRSF002397,Superfamily_domains:SSF81872	.	.	ENSP00000439902	.	17/28	.	.	.	.	.	.	.	.	.	17/28	PASS	ENST00000544455	Transcript	.	.	ENSG00000139618	1101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	BRCA2_HUMAN	BRCA2	HGNC	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN	.	UPI00001FCBCC	SNV	BRCA2,missense_variant,p.Tyr2624Asn,ENST00000544455,;BRCA2,missense_variant,p.Tyr2624Asn,ENST00000380152,;	8097	108	168	SUCCESS
CCDC70	83446	.	GRCh37	13	52439533	52439533	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs200191823	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	10	93	1	ENST00000242819.4:c.19C>T	p.Arg7Trp	p.R7W	ENST00000242819	NM_031290.2	7	Cgg/Tgg	0	T:0	T:0	.	T:0	.	T	R/W	protein_coding	YES	CCDS9431.1	19	MUTECT|MUSE|VARSCANS	.	CATTCCGGCTG	NONE	byCluster|by1000G	.	hmmpanther:PTHR21533:SF16,hmmpanther:PTHR21533	T:0.001	T:0.0001	ENSP00000242819	T:0	2/2	.	.	.	.	.	.	.	.	rs200191823	2/2	PASS	ENST00000242819	Transcript	.	T:0.0002	ENSG00000123171	25303	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	T:0	tolerated_low_confidence(0.27)	.	CCD70_HUMAN	CCDC70	HGNC	.	.	UPI00000361EB	SNV	CCDC70,missense_variant,p.Arg7Trp,ENST00000242819,;	315	94	76	SUCCESS
RTN1	6252	.	GRCh37	14	60212764	60212764	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs990013396	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	46	130	0	ENST00000267484.5:c.677A>G	p.Asp226Gly	p.D226G	ENST00000267484	NM_021136.2	226	gAc/gGc	0	.	.	.	.	.	C	D/G	protein_coding	YES	CCDS9740.1	677	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGTCTTTA	NONE	.	.	hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994	.	.	ENSP00000267484	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000267484	Transcript	.	.	ENSG00000139970	10467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.36)	.	RTN1_HUMAN	RTN1	HGNC	Q2NKQ5_HUMAN,Q2L7A7_HUMAN	.	UPI00001352DA	SNV	RTN1,missense_variant,p.Asp226Gly,ENST00000267484,;	1013	130	149	SUCCESS
NRDE2	55051	.	GRCh37	14	90756941	90756941	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	60	133	0	ENST00000354366.3:c.1853A>T	p.Asp618Val	p.D618V	ENST00000354366	NM_017970.3	618	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS9890.1	1853	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCATCAAAC	NONE	.	.	hmmpanther:PTHR13471,Pfam_domain:PF08424,Superfamily_domains:SSF48452	.	.	ENSP00000346335	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000354366	Transcript	.	.	ENSG00000119720	20186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	NRDE2_HUMAN	NRDE2	HGNC	Q658X2_HUMAN,E9PBK4_HUMAN	.	UPI00001FD9DB	SNV	NRDE2,missense_variant,p.Asp387Val,ENST00000357904,;NRDE2,missense_variant,p.Asp618Val,ENST00000354366,;NRDE2,missense_variant,p.Asp197Val,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,upstream_gene_variant,,ENST00000555903,;	2086	133	172	SUCCESS
DPP8	54878	.	GRCh37	15	65746732	65746732	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	88	0	ENST00000341861.5:c.2188C>T	p.Gln730Ter	p.Q730*	ENST00000341861	NM_197960.2	730	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS10207.1	2188	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTGATCGT	NONE	.	.	hmmpanther:PTHR11731:SF98,hmmpanther:PTHR11731,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000339208	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000341861	Transcript	.	.	ENSG00000074603	16490	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPP8_HUMAN	DPP8	HGNC	H0YN53_HUMAN,H0YMV1_HUMAN	.	UPI00001BFAFE	SNV	DPP8,stop_gained,p.Gln299Ter,ENST00000558559,;DPP8,stop_gained,p.Gln730Ter,ENST00000341861,;DPP8,stop_gained,p.Gln730Ter,ENST00000559233,;DPP8,stop_gained,p.Gln143Ter,ENST00000558786,;DPP8,stop_gained,p.Gln681Ter,ENST00000321118,;DPP8,stop_gained,p.Gln714Ter,ENST00000300141,;DPP8,stop_gained,p.Gln557Ter,ENST00000339244,;DPP8,intron_variant,,ENST00000358939,;DPP8,intron_variant,,ENST00000321147,;DPP8,non_coding_transcript_exon_variant,,ENST00000560048,;DPP8,downstream_gene_variant,,ENST00000558363,;DPP8,3_prime_UTR_variant,,ENST00000395652,;DPP8,downstream_gene_variant,,ENST00000560597,;RP11-349G13.3,upstream_gene_variant,,ENST00000605455,;	3769	88	98	SUCCESS
LOXL1	4016	.	GRCh37	15	74235244	74235244	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	62	0	ENST00000261921.7:c.1152T>C	p.Tyr384=	p.Y384=	ENST00000261921	NM_005576.2	384	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS10253.1	1152	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATGTGCA	NONE	.	.	Prints_domain:PR00074,Pfam_domain:PF01186,hmmpanther:PTHR19331:SF4,hmmpanther:PTHR19331	.	.	ENSP00000261921	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000261921	Transcript	1	.	ENSG00000129038	6665	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOXL1_HUMAN	LOXL1	HGNC	.	.	UPI000013D224	SNV	LOXL1,synonymous_variant,p.%3D,ENST00000261921,;LOXL1,upstream_gene_variant,,ENST00000567675,;LOXL1,3_prime_UTR_variant,,ENST00000566011,;LOXL1,upstream_gene_variant,,ENST00000566530,;LOXL1,upstream_gene_variant,,ENST00000562548,;	1478	62	90	SUCCESS
IL16	3603	.	GRCh37	15	81598333	81598333	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	76	0	ENST00000302987.4:c.3505T>C	p.Ser1169Pro	p.S1169P	ENST00000302987		1169	Tct/Cct	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS42069.1	3505	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAGTCTCTC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000302935	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000302987	Transcript	.	.	ENSG00000172349	5980	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	IL16_HUMAN	IL16	HGNC	H0YLL1_HUMAN	.	UPI0000229CE7	SNV	IL16,missense_variant,p.Ser473Pro,ENST00000558332,;IL16,missense_variant,p.Ser1169Pro,ENST00000394660,;IL16,missense_variant,p.Ser1123Pro,ENST00000559388,;IL16,missense_variant,p.Ser1169Pro,ENST00000302987,;IL16,missense_variant,p.Ser468Pro,ENST00000394652,;STARD5,downstream_gene_variant,,ENST00000302824,;RP11-761I4.4,intron_variant,,ENST00000607019,;IL16,non_coding_transcript_exon_variant,,ENST00000559342,;STARD5,downstream_gene_variant,,ENST00000560916,;IL16,3_prime_UTR_variant,,ENST00000558857,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,non_coding_transcript_exon_variant,,ENST00000559953,;	3505	76	102	SUCCESS
GSG1L	146395	.	GRCh37	16	28074529	28074529	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1471865078	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	21	0	ENST00000447459.2:c.217G>A	p.Ala73Thr	p.A73T	ENST00000447459	NM_001109763.1	73	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS45450.1	217	MUTECT|MUSE	.	GGCGGCGGCGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10671:SF35,hmmpanther:PTHR10671,Pfam_domain:PF07803	.	.	ENSP00000394954	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000447459	Transcript	.	.	ENSG00000169181	28283	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.052)	.	tolerated(0.61)	.	GSG1L_HUMAN	GSG1L	HGNC	.	.	UPI0000EE765B	SNV	GSG1L,missense_variant,p.Ala73Thr,ENST00000395724,;GSG1L,missense_variant,p.Ala73Thr,ENST00000447459,;GSG1L,5_prime_UTR_variant,,ENST00000380898,;GSG1L,upstream_gene_variant,,ENST00000562611,;	302	21	32	SUCCESS
SPN	6693	.	GRCh37	16	29675057	29675057	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762062584	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	57	0	ENST00000360121.3:c.8C>T	p.Thr3Met	p.T3M	ENST00000360121	NM_001030288.2	3	aCg/aTg	0	.	.	.	.	.	T	T/M	protein_coding	YES	CCDS10650.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACGCTTC	NONE	byFrequency	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	rs762062584,COSM1518807	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	unknown(0)	.	deleterious_low_confidence(0.03)	0,1	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,missense_variant,p.Thr3Met,ENST00000360121,;SPN,missense_variant,p.Thr3Met,ENST00000436527,;SPN,missense_variant,p.Thr3Met,ENST00000395389,;QPRT,intron_variant,,ENST00000449759,;SPN,missense_variant,p.Thr3Met,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;	100	57	61	SUCCESS
MTSS1L	0	.	GRCh37	16	70698645	70698645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	18	94	0	ENST00000338779.6:c.1327G>T	p.Ala443Ser	p.A443S	ENST00000338779	NM_138383.2	443	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32476.1	1327	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGCGGGGG	NONE	.	.	hmmpanther:PTHR15708:SF8,hmmpanther:PTHR15708	.	.	ENSP00000341171	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000338779	Transcript	.	.	ENSG00000132613	25094	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	.	tolerated(0.1)	.	MTSSL_HUMAN	MTSS1L	HGNC	.	.	UPI00001D627C	SNV	MTSS1L,missense_variant,p.Ala443Ser,ENST00000338779,;FLJ00418,5_prime_UTR_variant,,ENST00000597002,;IL34,downstream_gene_variant,,ENST00000288098,;IL34,downstream_gene_variant,,ENST00000429149,;IL34,downstream_gene_variant,,ENST00000566361,;	1602	94	101	SUCCESS
GRIN2A	2903	.	GRCh37	16	9892293	9892293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs796052550	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	23	80	0	ENST00000330684.3:c.2197G>A	p.Ala733Thr	p.A733T	ENST00000330684	NM_001134407.1	733	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS10539.1	2197	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTGCGGCAT	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Pfam_domain:PF00060,Pfam_domain:PF00497,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000379818	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0)	.	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,missense_variant,p.Ala733Thr,ENST00000396573,;GRIN2A,missense_variant,p.Ala733Thr,ENST00000404927,;GRIN2A,missense_variant,p.Ala576Thr,ENST00000535259,;GRIN2A,missense_variant,p.Ala733Thr,ENST00000330684,;GRIN2A,missense_variant,p.Ala733Thr,ENST00000396575,;GRIN2A,missense_variant,p.Ala733Thr,ENST00000562109,;	2507	80	121	SUCCESS
LRRC48	0	.	GRCh37	17	17919460	17919460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	36	99	0	ENST00000313838.8:c.1409A>G	p.Asp470Gly	p.D470G	ENST00000313838	NM_001130090.1	470	gAt/gGt	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS45622.1	1409	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGATGAGC	NONE	.	.	hmmpanther:PTHR10588:SF32,hmmpanther:PTHR10588	.	.	ENSP00000326870	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000313838	Transcript	.	.	ENSG00000171962	25384	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0.02)	.	LRC48_HUMAN	LRRC48	HGNC	J3QS14_HUMAN,J3QRH8_HUMAN,J3QRC9_HUMAN,J3KRB8_HUMAN	.	UPI000018CE87	SNV	LRRC48,missense_variant,p.Asp470Gly,ENST00000313838,;LRRC48,missense_variant,p.Asp470Gly,ENST00000399187,;ATPAF2,downstream_gene_variant,,ENST00000581698,;ATPAF2,downstream_gene_variant,,ENST00000585101,;ATPAF2,downstream_gene_variant,,ENST00000474627,;LRRC48,non_coding_transcript_exon_variant,,ENST00000583995,;ATPAF2,downstream_gene_variant,,ENST00000469327,;ATPAF2,3_prime_UTR_variant,,ENST00000462733,;LRRC48,3_prime_UTR_variant,,ENST00000583171,;LRRC48,non_coding_transcript_exon_variant,,ENST00000577477,;LRRC48,non_coding_transcript_exon_variant,,ENST00000490517,;ATPAF2,intron_variant,,ENST00000584205,;ATPAF2,downstream_gene_variant,,ENST00000496852,;ATPAF2,downstream_gene_variant,,ENST00000465337,;ATPAF2,downstream_gene_variant,,ENST00000467560,;ATPAF2,downstream_gene_variant,,ENST00000488753,;AC087163.2,downstream_gene_variant,,ENST00000457299,;	1788	99	125	SUCCESS
OR1E2	8388	.	GRCh37	17	3336671	3336671	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	161	27	151	0	ENST00000248384.1:c.465G>A	p.Ala155=	p.A155=	ENST00000248384	NM_003554.1	155	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS11026.1	465	RADIA|MUTECT|MUSE|VARSCANS	.	GACAGCGCCAC	NONE	.	.	Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF137,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000248384	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000248384	Transcript	.	.	ENSG00000127780	8190	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR1E2_HUMAN	OR1E2	HGNC	Q6IFM7_HUMAN	.	UPI0000041BBF	SNV	OR1E2,synonymous_variant,p.%3D,ENST00000248384,;	465	151	189	SUCCESS
TBX4	9496	.	GRCh37	17	59557244	59557244	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	18	99	0	ENST00000240335.1:c.705C>A		p.X235_splice	ENST00000240335	NM_018488.2	235	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11629.1	705	RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCACCCA	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF29,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937	.	.	ENSP00000240335	.	6/8	.	.	.	.	.	.	.	.	.	6/8	PASS	ENST00000240335	Transcript	.	.	ENSG00000121075	11603	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBX4_HUMAN	TBX4	HGNC	K7EPY2_HUMAN	.	UPI000013CAA9	SNV	TBX4,synonymous_variant,p.%3D,ENST00000240335,;TBX4,synonymous_variant,p.%3D,ENST00000393853,;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,splice_region_variant,,ENST00000586874,;TBX4,splice_region_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,splice_region_variant,,ENST00000590174,;	750	99	157	SUCCESS
AP1M1	8907	.	GRCh37	19	16314322	16314322	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	70	0	ENST00000291439.3:c.95A>G	p.His32Arg	p.H32R	ENST00000291439	NM_032493.3	32	cAc/cGc	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS46008.1	95	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCACTTCA	NONE	.	.	hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF22,Pfam_domain:PF01217,Gene3D:3.30.450.60,PIRSF_domain:PIRSF005992,Superfamily_domains:SSF64356,Prints_domain:PR00314	.	.	ENSP00000388996	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000444449	Transcript	.	.	ENSG00000072958	13667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.58)	.	AP1M1_HUMAN	AP1M1	HGNC	Q59EK3_HUMAN,K7ER75_HUMAN,K7EQ90_HUMAN,K7EPJ8_HUMAN,K7ENA7_HUMAN	.	UPI000051DDEE	SNV	AP1M1,missense_variant,p.His32Arg,ENST00000291439,;AP1M1,missense_variant,p.His6Arg,ENST00000591775,;AP1M1,missense_variant,p.His32Arg,ENST00000444449,;AP1M1,missense_variant,p.His6Arg,ENST00000590945,;AP1M1,missense_variant,p.His6Arg,ENST00000589822,;AP1M1,missense_variant,p.His32Arg,ENST00000429941,;AP1M1,missense_variant,p.His32Arg,ENST00000590263,;AP1M1,intron_variant,,ENST00000590756,;AP1M1,intron_variant,,ENST00000541844,;AP1M1,non_coding_transcript_exon_variant,,ENST00000586957,;AP1M1,non_coding_transcript_exon_variant,,ENST00000589991,;AP1M1,upstream_gene_variant,,ENST00000589782,;	188	70	90	SUCCESS
ZNF737	100129842	.	GRCh37	19	20728081	20728081	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	81	0	ENST00000427401.4:c.928G>A	p.Glu310Lys	p.E310K	ENST00000427401	NM_001159293.1	310	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS54238.1	928	MUTECT|MUSE	.	TTTCTCTCCGC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF93,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	.	.	ENSP00000395733	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000427401	Transcript	.	.	ENSG00000237440	32468	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.145)	.	tolerated(0.1)	.	ZN737_HUMAN	ZNF737	HGNC	M0R1D1_HUMAN	.	UPI0000198506	SNV	ZNF737,missense_variant,p.Glu310Lys,ENST00000427401,;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,;	1023	81	110	SUCCESS
LTBP4	8425	.	GRCh37	19	41128482	41128482	+	synonymous_variant	Silent	SNP	C	C	A	rs376662567	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	41	78	0	ENST00000308370.7:c.3592C>A	p.Arg1198=	p.R1198=	ENST00000308370	NM_001042544.1	1198	Cgg/Agg	0	T:0.0002	.	.	.	.	A	R	protein_coding	YES	.	3592	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCGGAAT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF57581,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS51364	.	T:0	ENSP00000311905	.	27/34	.	.	.	.	.	.	.	.	rs376662567	27/34	PASS	ENST00000308370	Transcript	1	.	ENSG00000090006	6717	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,synonymous_variant,p.%3D,ENST00000545697,;LTBP4,synonymous_variant,p.%3D,ENST00000308370,;LTBP4,synonymous_variant,p.%3D,ENST00000601032,;LTBP4,synonymous_variant,p.%3D,ENST00000396819,;LTBP4,synonymous_variant,p.%3D,ENST00000204005,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,intron_variant,,ENST00000593463,;LTBP4,intron_variant,,ENST00000599724,;LTBP4,downstream_gene_variant,,ENST00000597071,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,intron_variant,,ENST00000597603,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,downstream_gene_variant,,ENST00000601560,;LTBP4,downstream_gene_variant,,ENST00000595183,;LTBP4,upstream_gene_variant,,ENST00000599225,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594116,;LTBP4,intron_variant,,ENST00000595665,;LTBP4,intron_variant,,ENST00000318809,;LTBP4,intron_variant,,ENST00000597816,;LTBP4,intron_variant,,ENST00000595767,;LTBP4,intron_variant,,ENST00000594266,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,upstream_gene_variant,,ENST00000598178,;LTBP4,downstream_gene_variant,,ENST00000594457,;LTBP4,upstream_gene_variant,,ENST00000597151,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000593614,;LTBP4,downstream_gene_variant,,ENST00000600499,;	3592	78	122	SUCCESS
EGLN2	112398	.	GRCh37	19	41307313	41307313	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	34	0	ENST00000303961.4:c.836G>T	p.Arg279Leu	p.R279L	ENST00000303961	NM_080732.3	279	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS12567.1	836	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCGCACCA	NONE	.	.	PROSITE_profiles:PS51471,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF6,SMART_domains:SM00702	.	.	ENSP00000469686	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000593726	Transcript	.	.	ENSG00000269858	14660	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.44)	.	deleterious(0)	.	EGLN2_HUMAN	EGLN2	HGNC	M0R2X9_HUMAN,M0R1W4_HUMAN,M0R1A3_HUMAN,M0R110_HUMAN,M0R0Z6_HUMAN,M0R035_HUMAN,M0QXR0_HUMAN,M0QXM8_HUMAN	.	UPI0000050C8F	SNV	EGLN2,missense_variant,p.Arg279Leu,ENST00000593726,;EGLN2,missense_variant,p.Arg279Leu,ENST00000406058,;EGLN2,missense_variant,p.Arg40Leu,ENST00000597746,;EGLN2,missense_variant,p.Arg279Leu,ENST00000303961,;EGLN2,downstream_gene_variant,,ENST00000593972,;EGLN2,downstream_gene_variant,,ENST00000594380,;EGLN2,downstream_gene_variant,,ENST00000593525,;EGLN2,downstream_gene_variant,,ENST00000598654,;RAB4B,downstream_gene_variant,,ENST00000357052,;EGLN2,downstream_gene_variant,,ENST00000596517,;EGLN2,upstream_gene_variant,,ENST00000594140,;RAB4B,downstream_gene_variant,,ENST00000595728,;EGLN2,downstream_gene_variant,,ENST00000601733,;EGLN2,downstream_gene_variant,,ENST00000593397,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000601949,;CTC-490E21.12,missense_variant,p.Arg38Leu,ENST00000601627,;RAB4B-EGLN2,3_prime_UTR_variant,,ENST00000594136,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000596216,;EGLN2,upstream_gene_variant,,ENST00000599579,;RAB4B,downstream_gene_variant,,ENST00000598430,;RAB4B,downstream_gene_variant,,ENST00000378307,;EGLN2,upstream_gene_variant,,ENST00000593477,;RAB4B,downstream_gene_variant,,ENST00000597476,;EGLN2,upstream_gene_variant,,ENST00000593445,;	1864	34	56	SUCCESS
ZNF415	55786	.	GRCh37	19	53612770	53612770	+	synonymous_variant	Silent	SNP	T	T	C	rs756574051	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	27	109	0	ENST00000500065.4:c.528A>G	p.Ser176=	p.S176=	ENST00000500065	NM_001136038.2	176	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS54313.1	528	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTGAAAC	NONE	byFrequency	.	hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	rs756574051	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,synonymous_variant,p.%3D,ENST00000440291,;ZNF415,synonymous_variant,p.%3D,ENST00000455735,;ZNF415,synonymous_variant,p.%3D,ENST00000448501,;ZNF415,synonymous_variant,p.%3D,ENST00000500065,;ZNF415,synonymous_variant,p.%3D,ENST00000243643,;ZNF415,synonymous_variant,p.%3D,ENST00000421033,;ZNF415,5_prime_UTR_variant,,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	862	109	147	SUCCESS
REG4	83998	.	GRCh37	1	120345731	120345731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	41	119	0	ENST00000256585.5:c.125A>G	p.Tyr42Cys	p.Y42C	ENST00000256585	NM_032044.3	42	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS906.1	125	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCATAGCAA	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF26,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504	.	.	ENSP00000346158	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000354219	Transcript	.	.	ENSG00000134193	22977	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	REG4_HUMAN	REG4	HGNC	.	.	UPI000003EE44	SNV	REG4,missense_variant,p.Tyr42Cys,ENST00000354219,;REG4,missense_variant,p.Tyr42Cys,ENST00000369401,;REG4,missense_variant,p.Tyr42Cys,ENST00000530654,;REG4,missense_variant,p.Tyr42Cys,ENST00000256585,;	565	119	132	SUCCESS
DISP1	84976	.	GRCh37	1	223177664	223177664	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs760288803	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	11	75	0	ENST00000284476.6:c.2925C>A	p.Asp975Glu	p.D975E	ENST00000284476	NM_032890.3	975	gaC/gaA	0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS1536.1	2925	MUSE|VARSCANS	.	TATGACCTCCA	NONE	byFrequency	.	hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866	.	.	ENSP00000284476	.	8/8	.	.	.	.	.	.	.	.	rs760288803	8/8	PASS	ENST00000284476	Transcript	.	.	ENSG00000154309	19711	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	DISP1_HUMAN	DISP1	HGNC	.	.	UPI000016069D	SNV	DISP1,missense_variant,p.Asp975Glu,ENST00000284476,;	3089	75	134	SUCCESS
PGBD5	79605	.	GRCh37	1	230492769	230492770	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	143	59	86	0	ENST00000525115.1:c.422dup	p.Ile142AspfsTer47	p.I142Dfs*47	ENST00000525115		141	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	.	422-423	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGATCTTCTC	NONE	.	.	Pfam_domain:PF13843	.	.	ENSP00000431404	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000525115	Transcript	.	.	ENSG00000177614	19405	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGBD5_HUMAN	PGBD5	HGNC	.	.	UPI0001D34147	insertion	PGBD5,frameshift_variant,p.Ile241AspfsTer47,ENST00000321327,;PGBD5,frameshift_variant,p.Ile96AspfsTer47,ENST00000391860,;PGBD5,frameshift_variant,p.Ile142AspfsTer47,ENST00000525115,;	446-447	86	202	SUCCESS
ZBTB8B	728116	.	GRCh37	1	32937081	32937081	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs188525493	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	221	43	214	0	ENST00000609129.1:c.856C>T	p.Arg286Cys	p.R286C	ENST00000609129	NM_001145720.1	286	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS44104.1	856	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCGCAAC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF26	.	T:0.0003	ENSP00000476499	.	2/4	.	.	.	.	.	.	.	.	rs188525493	2/4	PASS	ENST00000609129	Transcript	.	.	ENSG00000273274	37057	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.009)	.	deleterious(0.02)	.	ZBT8B_HUMAN	ZBTB8B	HGNC	.	.	UPI000195170E	SNV	ZBTB8B,missense_variant,p.Arg286Cys,ENST00000609129,;RP1-27O5.3,missense_variant,p.Arg286Cys,ENST00000480336,;	934	214	264	SUCCESS
CSMD2	114784	.	GRCh37	1	34291374	34291374	+	splice_region_variant,synonymous_variant,NMD_transcript_variant	Splice_Region	SNP	G	G	T	rs751227065	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	31	0	ENST00000241312.4:c.915C>A		p.X305_splice	ENST00000241312		305	gtC/gtA	0	.	.	.	.	.	T	V	nonsense_mediated_decay	YES	CCDS380.1	915	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGACTAG	NONE	.	.	SMART_domains:SM00042,Gene3D:2.60.120.290,PROSITE_profiles:PS01180	.	.	ENSP00000241312	.	7/70	.	.	.	.	.	.	.	.	rs751227065	7/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	944	31	44	SUCCESS
UBE2U	148581	.	GRCh37	1	64672499	64672499	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	528	42	394	1	ENST00000371076.3:c.201T>A	p.Pro67=	p.P67=	ENST00000371076	NM_152489.1	67	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS627.1	201	MUTECT|MUSE	.	GCTCCTCCAGT	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF81,hmmpanther:PTHR24067,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000360116	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000371076	Transcript	.	.	ENSG00000177414	28559	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBE2U_HUMAN	UBE2U	HGNC	.	.	UPI000006E065	SNV	UBE2U,synonymous_variant,p.%3D,ENST00000371076,;UBE2U,synonymous_variant,p.%3D,ENST00000371077,;	445	395	570	SUCCESS
UBE2U	148581	.	GRCh37	1	64672500	64672500	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	526	43	395	0	ENST00000371076.3:c.202C>G	p.Pro68Ala	p.P68A	ENST00000371076	NM_152489.1	68	Cca/Gca	0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS627.1	202	MUTECT|MUSE	.	CTCCTCCAGTT	NONE	.	.	PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF81,hmmpanther:PTHR24067,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	.	.	ENSP00000360116	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000371076	Transcript	.	.	ENSG00000177414	28559	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	UBE2U_HUMAN	UBE2U	HGNC	.	.	UPI000006E065	SNV	UBE2U,missense_variant,p.Pro68Ala,ENST00000371076,;UBE2U,missense_variant,p.Pro68Ala,ENST00000371077,;	446	396	569	SUCCESS
HHLA3	11147	.	GRCh37	1	70820530	70820530	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	50	0	ENST00000359875.5:c.-105T>C		p.*35*	ENST00000359875	NM_001036645.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30752.1	.	MUTECT|MUSE	.	GTGTGTTTCCG	NONE	.	.	.	.	.	ENSP00000359978	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000370940	Transcript	.	.	ENSG00000197568	4906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HHLA3_HUMAN	HHLA3	HGNC	.	.	UPI0000071204	SNV	HHLA3,5_prime_UTR_variant,,ENST00000370940,;HHLA3,5_prime_UTR_variant,,ENST00000531950,;HHLA3,5_prime_UTR_variant,,ENST00000359875,;HHLA3,5_prime_UTR_variant,,ENST00000361764,;ANKRD13C,upstream_gene_variant,,ENST00000262346,;ANKRD13C,upstream_gene_variant,,ENST00000370944,;HHLA3,upstream_gene_variant,,ENST00000432224,;RP11-180O5.2,downstream_gene_variant,,ENST00000413943,;HHLA3,non_coding_transcript_exon_variant,,ENST00000486110,;HHLA3,5_prime_UTR_variant,,ENST00000463058,;HHLA3,upstream_gene_variant,,ENST00000525653,;	12	50	64	SUCCESS
SLC44A5	204962	.	GRCh37	1	75679669	75679669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	392	189	455	1	ENST00000370855.5:c.1808C>T	p.Ala603Val	p.A603V	ENST00000370855	NM_152697.4	603	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS667.1	1808	RADIA|SOMATICSNIPER|VARSCANS	.	TAACTGCAACT	NONE	.	.	hmmpanther:PTHR12385:SF42,hmmpanther:PTHR12385,Pfam_domain:PF04515	.	.	ENSP00000359892	.	21/24	.	.	.	.	.	.	.	.	.	21/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.19)	.	tolerated(0.58)	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,missense_variant,p.Ala473Val,ENST00000535611,;SLC44A5,missense_variant,p.Ala603Val,ENST00000370855,;SLC44A5,missense_variant,p.Ala603Val,ENST00000370859,;	1922	456	581	SUCCESS
RRBP1	6238	.	GRCh37	20	17596112	17596112	+	synonymous_variant	Silent	SNP	T	T	C	rs1283892265	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	27	0	ENST00000377807.2:c.2715A>G	p.Leu905=	p.L905=	ENST00000377807	NM_001042576.1	905	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13128.1	2715	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTAGGGG	NONE	.	.	hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939	.	.	ENSP00000367038	.	24/26	.	.	.	.	.	.	.	.	.	24/26	PASS	ENST00000377807	Transcript	.	.	ENSG00000125844	10448	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RRBP1_HUMAN	RRBP1	HGNC	F8W7S5_HUMAN	.	UPI000002B2C0	SNV	RRBP1,synonymous_variant,p.%3D,ENST00000246043,;RRBP1,synonymous_variant,p.%3D,ENST00000360807,;RRBP1,synonymous_variant,p.%3D,ENST00000377813,;RRBP1,synonymous_variant,p.%3D,ENST00000455029,;RRBP1,synonymous_variant,p.%3D,ENST00000377807,;RRBP1,non_coding_transcript_exon_variant,,ENST00000470422,;RRBP1,non_coding_transcript_exon_variant,,ENST00000468428,;	3069	27	35	SUCCESS
ABHD12	26090	.	GRCh37	20	25371383	25371383	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs373200654	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	23	64	0	ENST00000339157.5:c.-44C>G		p.*15*	ENST00000339157	NM_001042472.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13172.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GGCCTGCGCCG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000365725	.	1/13	.	.	.	.	.	.	.	.	rs373200654	1/13	common_in_exac	ENST00000376542	Transcript	1	.	ENSG00000100997	15868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABD12_HUMAN	ABHD12	HGNC	I3L440_HUMAN,I3L294_HUMAN	.	UPI000006F03A	SNV	ABHD12,5_prime_UTR_variant,,ENST00000339157,;ABHD12,5_prime_UTR_variant,,ENST00000376542,;ABHD12,upstream_gene_variant,,ENST00000471287,;ABHD12,5_prime_UTR_variant,,ENST00000461204,;	237	64	101	SUCCESS
ABHD16B	140701	.	GRCh37	20	62493842	62493842	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	40	0	ENST00000369916.3:c.949C>T	p.Leu317Phe	p.L317F	ENST00000369916	NM_080622.3	317	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS13539.1	949	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGCTCCGA	NONE	.	.	hmmpanther:PTHR12277:SF37,hmmpanther:PTHR12277,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	.	.	ENSP00000358932	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369916	Transcript	.	.	ENSG00000183260	16128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.867)	.	deleterious(0)	.	ABHGB_HUMAN	ABHD16B	HGNC	.	.	UPI000012860E	SNV	ABHD16B,missense_variant,p.Leu317Phe,ENST00000369916,;TPD52L2,upstream_gene_variant,,ENST00000369927,;C20ORF135,upstream_gene_variant,,ENST00000601296,;TPD52L2,upstream_gene_variant,,ENST00000217121,;TPD52L2,upstream_gene_variant,,ENST00000351424,;TPD52L2,upstream_gene_variant,,ENST00000348257,;TPD52L2,upstream_gene_variant,,ENST00000358548,;TPD52L2,upstream_gene_variant,,ENST00000352482,;TPD52L2,upstream_gene_variant,,ENST00000346249,;	1277	40	70	SUCCESS
BPIFC	254240	.	GRCh37	22	32827371	32827371	+	synonymous_variant	Silent	SNP	A	A	G	rs370427363	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	88	214	0	ENST00000300399.3:c.1180T>C	p.Leu394=	p.L394=	ENST00000300399	NM_174932.2	394	Ttg/Ctg	0	G:0.0002	.	.	.	.	G	L	protein_coding	YES	CCDS13906.1	1180	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAAAATAA	NONE	.	.	hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF17,Pfam_domain:PF02886,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394	.	G:0	ENSP00000380594	.	12/16	.	.	.	.	.	.	.	.	rs370427363	12/16	PASS	ENST00000397452	Transcript	.	.	ENSG00000184459	16503	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIFC_HUMAN	BPIFC	HGNC	F5H3G0_HUMAN	.	UPI0000071B53	SNV	BPIFC,synonymous_variant,p.%3D,ENST00000534972,;BPIFC,synonymous_variant,p.%3D,ENST00000432451,;BPIFC,synonymous_variant,p.%3D,ENST00000397452,;BPIFC,synonymous_variant,p.%3D,ENST00000300399,;	1291	214	279	SUCCESS
ZC3H7B	23264	.	GRCh37	22	41751769	41751769	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	73	0	ENST00000352645.4:c.2177A>G	p.Lys726Arg	p.K726R	ENST00000352645	NM_017590.5	726	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS14013.1	2177	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAAGGAGC	NONE	.	.	hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6	.	.	ENSP00000345793	.	19/23	.	.	.	.	.	.	.	.	.	19/23	PASS	ENST00000352645	Transcript	.	.	ENSG00000100403	30869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	tolerated(0.05)	.	Z3H7B_HUMAN	ZC3H7B	HGNC	.	.	UPI000002B2AD	SNV	ZC3H7B,missense_variant,p.Lys726Arg,ENST00000352645,;ZC3H7B,missense_variant,p.Lys726Arg,ENST00000351589,;	2434	73	103	SUCCESS
TUBA3E	112714	.	GRCh37	2	130951447	130951447	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	86	0	ENST00000312988.7:c.968T>C	p.Val323Ala	p.V323A	ENST00000312988	NM_207312.2	323	gTg/gCg	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS2158.1	968	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCACGTCC	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01162	.	.	ENSP00000318197	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000312988	Transcript	.	.	ENSG00000152086	20765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious_low_confidence(0.01)	.	TBA3E_HUMAN	TUBA3E	HGNC	F8VXZ7_HUMAN	.	UPI00001BE8EB	SNV	TUBA3E,missense_variant,p.Val323Ala,ENST00000312988,;MZT2B,downstream_gene_variant,,ENST00000409255,;MZT2B,downstream_gene_variant,,ENST00000457492,;MZT2B,downstream_gene_variant,,ENST00000425361,;MZT2B,downstream_gene_variant,,ENST00000455239,;MZT2B,downstream_gene_variant,,ENST00000281871,;MZT2B,downstream_gene_variant,,ENST00000480182,;	1069	86	113	SUCCESS
ACVR2A	92	.	GRCh37	2	148684717	148684722	+	inframe_deletion	In_Frame_Del	DEL	TGGATG	TGGATG	-	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	TGGATG	TGGATG	.	.	.	.	.	.	.	.	.	.	.	.	.	95	46	117	0	ENST00000241416.7:c.1418_1423del	p.Gly473_Cys474del	p.G473_C474del	ENST00000241416	NM_001616.4	472	gcTGGATGt/gct	0	.	.	.	.	.	-	AGC/A	protein_coding	YES	CCDS33301.1	1416-1421	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCAGCTGGATGTGTAG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	2	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	deletion	ACVR2A,inframe_deletion,p.Gly473_Cys474del,ENST00000241416,;ACVR2A,inframe_deletion,p.Gly473_Cys474del,ENST00000404590,;ACVR2A,inframe_deletion,p.Gly365_Cys366del,ENST00000535787,;ORC4,downstream_gene_variant,,ENST00000392857,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	2052-2057	117	141	SUCCESS
XIRP2	129446	.	GRCh37	2	168102782	168102782	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	303	111	226	0	ENST00000409195.1:c.4881del	p.Glu1628LysfsTer8	p.E1628Kfs*8	ENST00000409195	NM_152381.5	1627	gAa/ga	0	.	.	.	.	.	-	E/X	protein_coding	YES	CCDS42769.1	4880	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAGTGAAGAAG	NONE	.	.	hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	.	.	ENSP00000386840	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	deletion	XIRP2,frameshift_variant,p.Glu1406LysfsTer8,ENST00000409273,;XIRP2,frameshift_variant,p.Glu1628LysfsTer8,ENST00000409195,;XIRP2,frameshift_variant,p.Glu1628LysfsTer8,ENST00000295237,;XIRP2,intron_variant,,ENST00000409605,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000409043,;XIRP2,intron_variant,,ENST00000409728,;	4969	226	414	SUCCESS
DNAH7	56171	.	GRCh37	2	196825326	196825326	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs374382600	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	32	82	0	ENST00000312428.6:c.2549G>T	p.Arg850Leu	p.R850L	ENST00000312428	NM_018897.2	850	cGc/cTc	0	T:0	.	.	.	.	A	R/L	protein_coding	YES	CCDS42794.1	2549	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCGCAAA	BUFFER|p.R850C|c.2548C>T|3	byFrequency|byCluster	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393	.	T:0.0001	ENSP00000311273	.	18/65	.	.	.	.	.	.	.	.	rs374382600	18/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.793)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Arg850Leu,ENST00000312428,;	2650	82	106	SUCCESS
EPHA4	2043	.	GRCh37	2	222365844	222365844	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	6	60	0	ENST00000281821.2:c.872C>G	p.Ala291Gly	p.A291G	ENST00000281821	NM_004438.3	291	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS2447.1	872	MUTECT|MUSE	.	ACTTGGCACAG	NONE	.	.	PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416	.	.	ENSP00000281821	.	4/18	.	.	.	.	.	.	.	.	.	4/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.014)	.	tolerated(0.22)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Ala291Gly,ENST00000281821,;EPHA4,missense_variant,p.Ala28Gly,ENST00000441679,;EPHA4,missense_variant,p.Ala291Gly,ENST00000409854,;EPHA4,missense_variant,p.Ala240Gly,ENST00000392071,;EPHA4,missense_variant,p.Ala291Gly,ENST00000409938,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;	914	60	96	SUCCESS
COL4A3	1285	.	GRCh37	2	228147228	228147228	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs368342782	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	55	160	0	ENST00000396578.3:c.2636C>T	p.Pro879Leu	p.P879L	ENST00000396578	NM_000091.4	879	cCg/cTg	0	T:0.0003	T:0	.	T:0	.	T	P/L	protein_coding	YES	CCDS42829.1	2636	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCCGGGAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR24023:SF417,hmmpanther:PTHR24023,Pfam_domain:PF01391	T:0	T:0	ENSP00000379823	T:0	32/52	.	.	.	.	.	.	.	.	rs368342782	32/52	PASS	ENST00000396578	Transcript	.	T:0.0002	ENSG00000169031	2204	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	T:0.001	.	.	CO4A3_HUMAN	COL4A3	HGNC	Q548X1_HUMAN,A9QVI3_HUMAN	.	UPI000013E9F3	SNV	COL4A3,missense_variant,p.Pro879Leu,ENST00000396578,;AC097662.2,intron_variant,,ENST00000433324,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000439598,;COL4A3,upstream_gene_variant,,ENST00000487633,;	2798	160	180	SUCCESS
DIS3L2	129563	.	GRCh37	2	233001275	233001275	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772470899	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	56	135	0	ENST00000325385.7:c.796G>T	p.Ala266Ser	p.A266S	ENST00000325385	NM_152383.4	266	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS42834.1	796	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACGCCCTG	NONE	byFrequency	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249	.	.	ENSP00000315569	.	8/21	.	.	.	.	.	.	.	.	rs763950696,rs772470899	8/21	PASS	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,missense_variant,p.Ala266Ser,ENST00000273009,;DIS3L2,missense_variant,p.Ala266Ser,ENST00000325385,;DIS3L2,missense_variant,p.Ala266Ser,ENST00000409307,;DIS3L2,synonymous_variant,p.%3D,ENST00000360410,;DIS3L2,downstream_gene_variant,,ENST00000409401,;DIS3L2,missense_variant,p.Ala266Ser,ENST00000390005,;DIS3L2,synonymous_variant,p.%3D,ENST00000433430,;DIS3L2,intron_variant,,ENST00000445090,;	1072	135	157	SUCCESS
OR6B2	389090	.	GRCh37	2	240969050	240969050	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	113	241	0	ENST00000402971.2:c.797A>T	p.Asp266Val	p.D266V	ENST00000402971	NM_001005853.1	266	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS46559.1	797	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAATCAATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF106,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000384563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000402971	Transcript	.	.	ENSG00000182083	15041	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.216)	.	tolerated(0.5)	.	OR6B2_HUMAN	OR6B2	HGNC	I0EZ57_HUMAN	.	UPI0000061EBF	SNV	OR6B2,missense_variant,p.Asp266Val,ENST00000402971,;NDUFA10,upstream_gene_variant,,ENST00000307300,;NDUFA10,upstream_gene_variant,,ENST00000443626,;NDUFA10,upstream_gene_variant,,ENST00000407129,;NDUFA10,upstream_gene_variant,,ENST00000404554,;NDUFA10,upstream_gene_variant,,ENST00000252711,;NDUFA10,upstream_gene_variant,,ENST00000414580,;NDUFA10,upstream_gene_variant,,ENST00000497536,;NDUFA10,upstream_gene_variant,,ENST00000485344,;	857	241	293	SUCCESS
UMPS	7372	.	GRCh37	3	124456869	124456886	+	stop_gained,inframe_deletion	Nonsense_Mutation	DEL	TCTATCTGCTGATGTTTC	TCTATCTGCTGATGTTTC	-	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	TCTATCTGCTGATGTTTC	TCTATCTGCTGATGTTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	110	31	99	0	ENST00000232607.2:c.765_782del	p.Cys255_Ser261delinsTer	p.C255_S261delins*	ENST00000232607	NM_000373.3	255	tgTCTATCTGCTGATGTTTCa/tga	0	.	.	.	.	.	-	CLSADVS/*	protein_coding	YES	CCDS3029.1	765-782	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGTGTCTATCTGCTGATGTTTCACTGG	NONE	.	.	hmmpanther:PTHR19278,hmmpanther:PTHR19278:SF9,TIGRFAM_domain:TIGR01740,Gene3D:3.20.20.70,Pfam_domain:PF00215,SMART_domains:SM00934,Superfamily_domains:SSF51366	.	.	ENSP00000232607	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000232607	Transcript	.	.	ENSG00000114491	12563	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UMPS_HUMAN	UMPS	HGNC	B5LY64_HUMAN,A8K5J1_HUMAN	.	UPI0000001223	deletion	UMPS,stop_gained,p.Cys163_Ser169delinsTer,ENST00000536109,;UMPS,stop_gained,p.Cys77_Ser83delinsTer,ENST00000538242,;UMPS,stop_gained,p.Cys255_Ser261delinsTer,ENST00000232607,;UMPS,stop_gained,p.Cys77_Ser83delinsTer,ENST00000413078,;UMPS,non_coding_transcript_exon_variant,,ENST00000498715,;UMPS,upstream_gene_variant,,ENST00000495751,;UMPS,stop_gained,p.Cys255_Ser261delinsTer,ENST00000479719,;UMPS,coding_sequence_variant,,ENST00000474588,;UMPS,3_prime_UTR_variant,,ENST00000462091,;UMPS,3_prime_UTR_variant,,ENST00000497791,;UMPS,3_prime_UTR_variant,,ENST00000467167,;UMPS,3_prime_UTR_variant,,ENST00000460034,;UMPS,upstream_gene_variant,,ENST00000487622,;RP11-71H17.1,upstream_gene_variant,,ENST00000475510,;	871-888	99	141	SUCCESS
KBTBD12	166348	.	GRCh37	3	127642185	127642185	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	51	125	0	ENST00000405109.1:c.281T>C	p.Leu94Ser	p.L94S	ENST00000405109		94	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS33848.2	281	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTTTGGAGA	NONE	.	.	PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000385957	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000405109	Transcript	.	.	ENSG00000187715	25731	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KBTBC_HUMAN	KBTBD12	HGNC	B5MCZ4_HUMAN	.	UPI00001D802F	SNV	KBTBD12,missense_variant,p.Leu94Ser,ENST00000405256,;KBTBD12,missense_variant,p.Leu94Ser,ENST00000405109,;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,upstream_gene_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;	748	125	168	SUCCESS
DNAJC13	23317	.	GRCh37	3	132241675	132241675	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	185	45	169	0	ENST00000260818.6:c.5677C>T	p.Arg1893Ter	p.R1893*	ENST00000260818	NM_015268.3	1893	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS33857.1	5677	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTCGAATT	NONE	.	.	hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF25,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	.	.	ENSP00000260818	.	49/56	.	.	.	.	.	.	.	.	.	49/56	PASS	ENST00000260818	Transcript	.	.	ENSG00000138246	30343	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DJC13_HUMAN	DNAJC13	HGNC	.	.	UPI000022C1FD	SNV	DNAJC13,stop_gained,p.Arg1893Ter,ENST00000260818,;DNAJC13,upstream_gene_variant,,ENST00000463038,;	5925	170	230	SUCCESS
ITIH4	3700	.	GRCh37	3	52855127	52855128	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	AA	AA	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	47	0	ENST00000266041.4:c.1558_1559del	p.Phe520ProfsTer47	p.F520Pfs*47	ENST00000266041	NM_002218.4	520	TTc/c	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS2865.1	1558-1559	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTTGGAAAGTGA	NONE	.	.	hmmpanther:PTHR10338:SF98,hmmpanther:PTHR10338	.	.	ENSP00000266041	.	12/24	.	.	.	.	.	.	.	.	.	12/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	deletion	ITIH4,frameshift_variant,p.Phe520ProfsTer47,ENST00000346281,;ITIH4,frameshift_variant,p.Phe520ProfsTer47,ENST00000266041,;ITIH4,frameshift_variant,p.Phe378ProfsTer47,ENST00000441637,;ITIH4,frameshift_variant,p.Phe432ProfsTer47,ENST00000434759,;ITIH4,frameshift_variant,p.Phe520ProfsTer47,ENST00000485816,;ITIH4,frameshift_variant,p.Phe520ProfsTer47,ENST00000406595,;ITIH4-AS1,upstream_gene_variant,,ENST00000478366,;ITIH4,non_coding_transcript_exon_variant,,ENST00000467462,;ITIH4,intron_variant,,ENST00000484632,;ITIH4,upstream_gene_variant,,ENST00000471505,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000485894,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,upstream_gene_variant,,ENST00000461966,;ITIH4,downstream_gene_variant,,ENST00000483372,;ITIH4,upstream_gene_variant,,ENST00000481977,;	1655-1656	47	88	SUCCESS
PCDH18	54510	.	GRCh37	4	138452550	138452550	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	28	46	0	ENST00000344876.4:c.693A>T	p.Ile231=	p.I231=	ENST00000344876	NM_019035.3	231	atA/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS34064.1	693	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGTATGGA	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000355082	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000344876	Transcript	.	.	ENSG00000189184	14268	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD18_HUMAN	PCDH18	HGNC	Q9NT87_HUMAN,B4DQ29_HUMAN	.	UPI0000047A88	SNV	PCDH18,synonymous_variant,p.%3D,ENST00000344876,;PCDH18,synonymous_variant,p.%3D,ENST00000507846,;PCDH18,synonymous_variant,p.%3D,ENST00000412923,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	1080	46	78	SUCCESS
KLHL5	51088	.	GRCh37	4	39109209	39109209	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	19	121	0	ENST00000504108.1:c.1684C>A	p.Pro562Thr	p.P562T	ENST00000504108	NM_015990.4	562	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS33974.1	1684	RADIA|MUTECT|MUSE|VARSCANS	.	AAGGTCCCATG	NONE	.	.	hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF135,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000423897	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000504108	Transcript	.	.	ENSG00000109790	6356	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	tolerated(0.05)	.	KLHL5_HUMAN	KLHL5	HGNC	Q642I3_HUMAN	.	UPI000013D185	SNV	KLHL5,missense_variant,p.Pro562Thr,ENST00000359687,;KLHL5,missense_variant,p.Pro74Thr,ENST00000515612,;KLHL5,missense_variant,p.Pro516Thr,ENST00000261425,;KLHL5,missense_variant,p.Pro375Thr,ENST00000508137,;KLHL5,missense_variant,p.Pro562Thr,ENST00000381930,;KLHL5,missense_variant,p.Pro562Thr,ENST00000504108,;KLHL5,missense_variant,p.Pro501Thr,ENST00000261426,;	1967	121	174	SUCCESS
STX18	53407	.	GRCh37	4	4421847	4421847	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	47	0	ENST00000306200.2:c.922A>T	p.Asn308Tyr	p.N308Y	ENST00000306200	NM_016930.2	308	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS3377.1	922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTTTTTAA	NONE	.	.	hmmpanther:PTHR15959,hmmpanther:PTHR15959:SF0,Gene3D:1.20.5.110	.	.	ENSP00000305810	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000306200	Transcript	.	.	ENSG00000168818	15942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.676)	.	deleterious(0.02)	.	STX18_HUMAN	STX18	HGNC	D6RD65_HUMAN,D6RC71_HUMAN	.	UPI0000049FDD	SNV	STX18,missense_variant,p.Asn308Tyr,ENST00000306200,;STX18,intron_variant,,ENST00000505286,;NSG1,downstream_gene_variant,,ENST00000504171,;NSG1,downstream_gene_variant,,ENST00000421177,;NSG1,downstream_gene_variant,,ENST00000505246,;NSG1,downstream_gene_variant,,ENST00000506380,;NSG1,downstream_gene_variant,,ENST00000513555,;NSG1,downstream_gene_variant,,ENST00000397958,;NSG1,downstream_gene_variant,,ENST00000433139,;STX18,3_prime_UTR_variant,,ENST00000503861,;STX18,non_coding_transcript_exon_variant,,ENST00000502267,;STX18,non_coding_transcript_exon_variant,,ENST00000503692,;STX18,non_coding_transcript_exon_variant,,ENST00000515687,;STX18,downstream_gene_variant,,ENST00000510296,;NSG1,downstream_gene_variant,,ENST00000513829,;	986	47	58	SUCCESS
PPEF2	5470	.	GRCh37	4	76797690	76797690	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	45	85	0	ENST00000286719.7:c.1070C>T	p.Ser357Leu	p.S357L	ENST00000286719	NM_006239.2	357	tCg/tTg	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS34013.1	1070	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCGAAGAG	NONE	.	.	PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Pfam_domain:PF00149,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214,Low_complexity_(Seg):seg	.	.	ENSP00000286719	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.06)	.	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,missense_variant,p.Ser357Leu,ENST00000286719,;PPEF2,3_prime_UTR_variant,,ENST00000511880,;	1427	85	121	SUCCESS
PCDHGB6	56100	.	GRCh37	5	140787904	140787904	+	synonymous_variant	Silent	SNP	G	G	T	rs1191967573	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	16	95	0	ENST00000520790.1:c.135G>T	p.Ser45=	p.S45=	ENST00000520790	NM_018926.2	45	tcG/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54929.1	135	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCGGTGGT	NONE	.	.	Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF66,hmmpanther:PTHR24028	.	.	ENSP00000428603	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000520790	Transcript	.	.	ENSG00000253305	8713	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDGI_HUMAN	PCDHGB6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EB47	SNV	PCDHGB6,synonymous_variant,p.%3D,ENST00000520790,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA10,upstream_gene_variant,,ENST00000398610,;	135	95	133	SUCCESS
PCDHGB6	56100	.	GRCh37	5	140789789	140789789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	33	57	0	ENST00000520790.1:c.2020G>T	p.Asp674Tyr	p.D674Y	ENST00000520790	NM_018926.2	674	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS54929.1	2020	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGACCTC	NONE	.	.	hmmpanther:PTHR24028:SF66,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000428603	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000520790	Transcript	.	.	ENSG00000253305	8713	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	PCDGI_HUMAN	PCDHGB6	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006EB47	SNV	PCDHGB6,missense_variant,p.Asp674Tyr,ENST00000520790,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA10,upstream_gene_variant,,ENST00000398610,;	2020	57	96	SUCCESS
SH3TC2	79628	.	GRCh37	5	148406584	148406584	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773922490	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	222	8	166	0	ENST00000515425.1:c.2711G>T	p.Arg904Leu	p.R904L	ENST00000515425	NM_024577.3	904	cGa/cTa	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS4293.1	2711	MUTECT|MUSE	.	AGAGTCGTACA	NONE	byFrequency	.	Superfamily_domains:SSF48452,Gene3D:1.25.40.10,Pfam_domain:PF13424,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	.	.	ENSP00000423660	.	11/17	.	.	.	.	.	.	.	.	rs773922490	11/17	PASS	ENST00000515425	Transcript	1	.	ENSG00000169247	29427	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.44)	.	tolerated(0.09)	.	S3TC2_HUMAN	SH3TC2	HGNC	B3KXB9_HUMAN	.	UPI00001DFBEE	SNV	SH3TC2,missense_variant,p.Arg904Leu,ENST00000515425,;SH3TC2,missense_variant,p.Arg451Leu,ENST00000538184,;SH3TC2,missense_variant,p.Arg897Leu,ENST00000512049,;SH3TC2,missense_variant,p.Arg789Leu,ENST00000394358,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,missense_variant,p.Arg904Leu,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;	2813	166	230	SUCCESS
MIR218-2	407001	.	GRCh37	5	168195176	168195176	+	mature_miRNA_variant	RNA	SNP	G	G	C	rs368624931	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	25	0	ENST00000385006.1:n.85C>G		p.*29*	ENST00000385006				0	A:0	.	.	.	.	C	.	protein_coding	YES	CCDS4369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGGTGCT	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000430333	.	.	.	.	.	.	.	.	.	.	rs368624931	.	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODIFIER	14/35	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,intron_variant,,ENST00000332966,;SLIT3,intron_variant,,ENST00000519560,;SLIT3,intron_variant,,ENST00000404867,;MIR218-2,non_coding_transcript_exon_variant,,ENST00000385006,;SLIT3,intron_variant,,ENST00000519486,;SLIT3,downstream_gene_variant,,ENST00000518140,;	.	25	26	SUCCESS
SLC34A1	6569	.	GRCh37	5	176821180	176821180	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	90	0	ENST00000324417.5:c.1158G>T	p.Gln386His	p.Q386H	ENST00000324417	NM_003052.4	386	caG/caT	0	.	.	.	.	.	T	Q/H	protein_coding	YES	CCDS4418.1	1158	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCAGAAGGT	NONE	.	.	TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF21	.	.	ENSP00000321424	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000324417	Transcript	1	.	ENSG00000131183	11019	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.07)	.	NPT2A_HUMAN	SLC34A1	HGNC	Q05BP0_HUMAN,D6RCE5_HUMAN	.	UPI0000130408	SNV	SLC34A1,missense_variant,p.Gln386His,ENST00000324417,;SLC34A1,downstream_gene_variant,,ENST00000512593,;SLC34A1,intron_variant,,ENST00000513614,;SLC34A1,non_coding_transcript_exon_variant,,ENST00000507685,;	1249	90	129	SUCCESS
IRX4	50805	.	GRCh37	5	1878820	1878820	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	65	118	0	ENST00000231357.2:c.823C>G	p.Leu275Val	p.L275V	ENST00000231357	NM_016358.2	275	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS3867.1	823	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCAGCTCGC	NONE	.	.	hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16	.	.	ENSP00000423161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000505790	Transcript	.	.	ENSG00000113430	6129	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.851)	.	tolerated(0.13)	.	IRX4_HUMAN	IRX4	HGNC	H1AFL0_HUMAN	.	UPI000012D8C7	SNV	IRX4,missense_variant,p.Leu275Val,ENST00000231357,;IRX4,missense_variant,p.Leu275Val,ENST00000513692,;IRX4,missense_variant,p.Leu275Val,ENST00000505790,;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	1280	118	183	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33534965	33534965	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	58	0	ENST00000504830.1:c.4579A>G	p.Asn1527Asp	p.N1527D	ENST00000504830	NM_030955.2	1527	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS34140.1	4579	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTTGCATT	NONE	.	.	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	.	.	ENSP00000422554	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.608)	.	tolerated(0.07)	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,missense_variant,p.Asn1527Asp,ENST00000504830,;ADAMTS12,missense_variant,p.Asn1442Asp,ENST00000352040,;	4915	58	103	SUCCESS
KIAA0947	0	.	GRCh37	5	5463067	5463067	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs768685671	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	7	123	0	ENST00000296564.7:c.3620A>G	p.Asn1207Ser	p.N1207S	ENST00000296564	NM_015325.2	1207	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS47187.1	3620	MUTECT|MUSE	.	AATGAACAAAG	NONE	byFrequency	.	hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	.	.	ENSP00000296564	.	13/19	.	.	.	.	.	.	.	.	rs768685671	13/19	PASS	ENST00000296564	Transcript	.	.	ENSG00000164151	29154	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.023)	.	tolerated(0.43)	.	K0947_HUMAN	KIAA0947	HGNC	.	.	UPI00015542F9	SNV	KIAA0947,missense_variant,p.Asn1207Ser,ENST00000296564,;	3842	123	183	SUCCESS
MAP3K1	4214	.	GRCh37	5	56161727	56161727	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	55	120	0	ENST00000399503.3:c.1224C>G	p.Ile408Met	p.I408M	ENST00000399503	NM_005921.1	408	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS43318.1	1224	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCCAGAA	NONE	.	.	hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361	.	.	ENSP00000382423	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000399503	Transcript	1	.	ENSG00000095015	6848	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.798)	.	deleterious(0)	.	M3K1_HUMAN	MAP3K1	HGNC	.	.	UPI000015153B	SNV	MAP3K1,missense_variant,p.Ile408Met,ENST00000399503,;AC008937.2,upstream_gene_variant,,ENST00000415589,;	1224	120	184	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60817140	60817140	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	36	126	0	ENST00000252744.5:c.1384A>T	p.Lys462Ter	p.K462*	ENST00000252744	NM_020928.1	462	Aag/Tag	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS47215.1	1384	RADIA|MUTECT|MUSE	.	AGCAAAAGGCC	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,stop_gained,p.Lys462Ter,ENST00000252744,;	1384	126	199	SUCCESS
ZSWIM6	57688	.	GRCh37	5	60817151	60817151	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	38	123	0	ENST00000252744.5:c.1395G>A	p.Trp465Ter	p.W465*	ENST00000252744	NM_020928.1	465	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS47215.1	1395	RADIA|MUTECT|MUSE	.	AGTTGGCTAAA	NONE	.	.	hmmpanther:PTHR22619:SF3,hmmpanther:PTHR22619	.	.	ENSP00000252744	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000252744	Transcript	1	.	ENSG00000130449	29316	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZSWM6_HUMAN	ZSWIM6	HGNC	.	.	UPI0001837EA2	SNV	ZSWIM6,stop_gained,p.Trp465Ter,ENST00000252744,;	1395	123	201	SUCCESS
CCNB1	891	.	GRCh37	5	68471253	68471253	+	synonymous_variant	Silent	SNP	A	A	G	rs985671768	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	46	117	0	ENST00000256442.5:c.972A>G	p.Lys324=	p.K324=	ENST00000256442	NM_031966.3	324	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS3997.1	972	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAATACCT	NONE	.	.	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF193,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM00385,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954	.	.	ENSP00000256442	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000256442	Transcript	.	.	ENSG00000134057	1579	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNB1_HUMAN	CCNB1	HGNC	Q9BPX9_HUMAN	.	UPI00001275A9	SNV	CCNB1,synonymous_variant,p.%3D,ENST00000507798,;CCNB1,synonymous_variant,p.%3D,ENST00000505500,;CCNB1,synonymous_variant,p.%3D,ENST00000256442,;CCNB1,synonymous_variant,p.%3D,ENST00000506572,;CCNB1,downstream_gene_variant,,ENST00000508407,;snoU13,downstream_gene_variant,,ENST00000459230,;CCNB1,upstream_gene_variant,,ENST00000513102,;CCNB1,downstream_gene_variant,,ENST00000503507,;	1225	117	154	SUCCESS
GPR98	0	.	GRCh37	5	90078941	90078941	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	32	100	0	ENST00000405460.2:c.13232T>A	p.Val4411Glu	p.V4411E	ENST00000405460	NM_032119.3	4411	gTg/gAg	0	.	.	.	.	.	A	V/E	protein_coding	YES	CCDS47246.1	13232	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAGTGGAGG	NONE	.	.	Superfamily_domains:SSF141072,SMART_domains:SM00237,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	66/90	.	.	.	.	.	.	.	.	.	66/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.942)	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,missense_variant,p.Val4411Glu,ENST00000405460,;GPR98,missense_variant,p.Val72Glu,ENST00000425867,;	13328	100	118	SUCCESS
SLC2A12	154091	.	GRCh37	6	134350236	134350236	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	42	128	0	ENST00000275230.5:c.727C>G	p.Leu243Val	p.L243V	ENST00000275230	NM_145176.2	243	Ctc/Gtc	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS5169.1	727	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAGTGCTC	NONE	.	.	PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF91,hmmpanther:PTHR24063,Pfam_domain:PF00083,Superfamily_domains:SSF103473	.	.	ENSP00000275230	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000275230	Transcript	.	.	ENSG00000146411	18067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.64)	.	GTR12_HUMAN	SLC2A12	HGNC	.	.	UPI000004DB98	SNV	SLC2A12,missense_variant,p.Leu243Val,ENST00000275230,;	883	128	146	SUCCESS
GPR126	0	.	GRCh37	6	142738477	142738477	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	63	162	0	ENST00000230173.6:c.3006A>T	p.Glu1002Asp	p.E1002D	ENST00000230173	NM_020455.5	1002	gaA/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS47489.1	3006	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAAGTTA	NONE	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF47,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	.	.	ENSP00000356581	.	21/25	.	.	.	.	.	.	.	.	.	21/25	PASS	ENST00000367609	Transcript	.	.	ENSG00000112414	13841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.59)	.	GP126_HUMAN	GPR126	HGNC	F5H2L1_HUMAN	.	UPI000022CCE4	SNV	GPR126,missense_variant,p.Glu1002Asp,ENST00000367609,;GPR126,missense_variant,p.Glu974Asp,ENST00000296932,;GPR126,missense_variant,p.Glu974Asp,ENST00000367608,;GPR126,missense_variant,p.Glu1002Asp,ENST00000230173,;GPR126,non_coding_transcript_exon_variant,,ENST00000472054,;	3407	162	210	SUCCESS
ACAT2	39	.	GRCh37	6	160183059	160183059	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	33	61	0	ENST00000367048.4:c.-61C>A		p.*21*	ENST00000367048	NM_005891.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5268.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGCGAGGA	NONE	.	.	.	.	.	ENSP00000356015	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000367048	Transcript	.	.	ENSG00000120437	94	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THIC_HUMAN	ACAT2	HGNC	.	.	UPI000013CA85	SNV	ACAT2,5_prime_UTR_variant,,ENST00000367048,;SOD2,5_prime_UTR_variant,,ENST00000546087,;ACAT2,upstream_gene_variant,,ENST00000541436,;SOD2,non_coding_transcript_exon_variant,,ENST00000535372,;ACAT2,upstream_gene_variant,,ENST00000467951,;	1700	61	106	SUCCESS
ZFP57	346171	.	GRCh37	6	29641190	29641190	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	95	0	ENST00000376881.3:c.638G>A	p.Cys213Tyr	p.C213Y	ENST00000376881		213	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS43436.2	698	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGTGCAACAG	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000418259	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000488757	Transcript	.	.	ENSG00000204644	18791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ZFP57_HUMAN	ZFP57	HGNC	.	.	UPI0001951170	SNV	ZFP57,missense_variant,p.Cys213Tyr,ENST00000376883,;ZFP57,missense_variant,p.Cys233Tyr,ENST00000488757,;ZFP57,missense_variant,p.Cys213Tyr,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000533330,;MOG,downstream_gene_variant,,ENST00000490427,;MOG,downstream_gene_variant,,ENST00000396704,;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376891,;MOG,downstream_gene_variant,,ENST00000376898,;MOG,downstream_gene_variant,,ENST00000494692,;MOG,downstream_gene_variant,,ENST00000376917,;MOG,downstream_gene_variant,,ENST00000376888,;MOG,downstream_gene_variant,,ENST00000376902,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000431798,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000396701,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	849	95	113	SUCCESS
DXO	1797	.	GRCh37	6	31938745	31938745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs558849573	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	33	0	ENST00000337523.5:c.536C>T	p.Pro179Leu	p.P179L	ENST00000337523	NM_005510.3	179	cCg/cTg	0	.	A:0	.	A:0.0029	.	A	P/L	protein_coding	YES	CCDS4732.1	536	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGGTGGC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12395,hmmpanther:PTHR12395:SF9	A:0	.	ENSP00000364498	A:0	3/7	.	.	.	.	.	.	.	.	rs558849573	3/7	PASS	ENST00000375349	Transcript	.	A:0.0004	ENSG00000204348	2992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated(0.12)	.	DXO_HUMAN	DXO	HGNC	.	.	UPI00000710F6	SNV	DXO,missense_variant,p.Pro179Leu,ENST00000375356,;DXO,missense_variant,p.Pro179Leu,ENST00000375349,;DXO,missense_variant,p.Pro179Leu,ENST00000337523,;DXO,upstream_gene_variant,,ENST00000495340,;SKIV2L,downstream_gene_variant,,ENST00000544581,;SKIV2L,downstream_gene_variant,,ENST00000491994,;STK19,upstream_gene_variant,,ENST00000375331,;SKIV2L,downstream_gene_variant,,ENST00000375394,;STK19,upstream_gene_variant,,ENST00000460018,;STK19,upstream_gene_variant,,ENST00000375333,;DXO,non_coding_transcript_exon_variant,,ENST00000474587,;DXO,non_coding_transcript_exon_variant,,ENST00000487914,;DXO,non_coding_transcript_exon_variant,,ENST00000478221,;SKIV2L,downstream_gene_variant,,ENST00000470453,;STK19,upstream_gene_variant,,ENST00000463823,;SKIV2L,downstream_gene_variant,,ENST00000461915,;SKIV2L,downstream_gene_variant,,ENST00000471818,;STK19,upstream_gene_variant,,ENST00000466336,;DXO,missense_variant,p.Pro179Leu,ENST00000480240,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;DXO,non_coding_transcript_exon_variant,,ENST00000492946,;DXO,non_coding_transcript_exon_variant,,ENST00000498357,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;DXO,non_coding_transcript_exon_variant,,ENST00000491327,;DXO,non_coding_transcript_exon_variant,,ENST00000460058,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;STK19,upstream_gene_variant,,ENST00000479644,;STK19,upstream_gene_variant,,ENST00000483801,;SKIV2L,downstream_gene_variant,,ENST00000474839,;STK19,upstream_gene_variant,,ENST00000466132,;SKIV2L,downstream_gene_variant,,ENST00000465703,;STK19,upstream_gene_variant,,ENST00000492583,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,downstream_gene_variant,,ENST00000485349,;	948	33	54	SUCCESS
TJAP1	93643	.	GRCh37	6	43473568	43473568	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	51	0	ENST00000372445.5:c.1649A>G	p.Gln550Arg	p.Q550R	ENST00000372445	NM_001146016.1	550	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS55004.1	1649	MUTECT|MUSE	.	GGCCCAGGAGC	NONE	.	.	Pfam_domain:PF15453	.	.	ENSP00000361522	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372445	Transcript	.	.	ENSG00000137221	17949	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.993)	.	deleterious(0)	.	TJAP1_HUMAN	TJAP1	HGNC	E2QRK7_HUMAN,B3KT40_HUMAN	.	UPI00004A3A96	SNV	TJAP1,missense_variant,p.Gln550Arg,ENST00000372449,;TJAP1,missense_variant,p.Gln550Arg,ENST00000438588,;TJAP1,missense_variant,p.Gln550Arg,ENST00000372445,;TJAP1,missense_variant,p.Gln540Arg,ENST00000259751,;TJAP1,missense_variant,p.Gln540Arg,ENST00000436109,;TJAP1,missense_variant,p.Gln540Arg,ENST00000372444,;TJAP1,missense_variant,p.Gln540Arg,ENST00000372452,;TJAP1,3_prime_UTR_variant,,ENST00000454762,;TJAP1,downstream_gene_variant,,ENST00000372454,;LRRC73,downstream_gene_variant,,ENST00000372441,;POLR1C,upstream_gene_variant,,ENST00000428025,;TJAP1,downstream_gene_variant,,ENST00000442878,;TJAP1,non_coding_transcript_exon_variant,,ENST00000483640,;TJAP1,downstream_gene_variant,,ENST00000459851,;TJAP1,downstream_gene_variant,,ENST00000478173,;TJAP1,downstream_gene_variant,,ENST00000490050,;	2025	51	63	SUCCESS
PKHD1	5314	.	GRCh37	6	51612813	51612813	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	172	6	118	0	ENST00000371117.3:c.9601A>C	p.Arg3201=	p.R3201=	ENST00000371117	NM_138694.3	3201	Agg/Cgg	0	.	.	.	.	.	G	R	protein_coding	YES	CCDS4935.1	9601	MUTECT|MUSE	.	ATTCCTAAGCA	NONE	.	.	hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915,Gene3D:2.160.20.10	.	.	ENSP00000360158	.	58/67	.	.	.	.	.	.	.	.	.	58/67	PASS	ENST00000371117	Transcript	.	.	ENSG00000170927	9016	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHD1_HUMAN	PKHD1	HGNC	.	.	UPI000013C4C0	SNV	PKHD1,synonymous_variant,p.%3D,ENST00000340994,;PKHD1,synonymous_variant,p.%3D,ENST00000371117,;	9877	118	178	SUCCESS
EEF1A1	1915	.	GRCh37	6	74229110	74229110	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	37	0	ENST00000309268.6:c.274G>A	p.Ala92Thr	p.A92T	ENST00000309268		92	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4980.1	274	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCATCAA	BUFFER|p.D91N|c.271G>A|3	.	.	Prints_domain:PR00315,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,HAMAP:MF_00118_A	.	.	ENSP00000339063	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000316292	Transcript	.	.	ENSG00000156508	3189	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.158)	.	deleterious_low_confidence(0.02)	.	EF1A1_HUMAN	EEF1A1	HGNC	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN	.	UPI00000012CA	SNV	EEF1A1,missense_variant,p.Ala92Thr,ENST00000356303,;EEF1A1,missense_variant,p.Ala92Thr,ENST00000455918,;EEF1A1,missense_variant,p.Ala92Thr,ENST00000309268,;EEF1A1,missense_variant,p.Ala92Thr,ENST00000316292,;EEF1A1,missense_variant,p.Ala92Thr,ENST00000331523,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;	1266	37	71	SUCCESS
HTR1E	3354	.	GRCh37	6	87724938	87724938	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	rs532590467	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	52	0	ENST00000305344.5:c.-115T>C		p.*39*	ENST00000305344	NM_000865.2			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS5006.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATAGCTG	NONE	by1000G	.	.	C:0	.	ENSP00000307766	C:0.001	2/2	.	.	.	.	.	.	.	.	rs532590467	2/2	PASS	ENST00000305344	Transcript	.	C:0.0002	ENSG00000168830	5291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	5HT1E_HUMAN	HTR1E	HGNC	.	.	UPI000000126D	SNV	HTR1E,5_prime_UTR_variant,,ENST00000305344,;	589	52	49	SUCCESS
TTYH3	80727	.	GRCh37	7	2689555	2689555	+	synonymous_variant	Silent	SNP	C	C	T	rs763141261	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	52	0	ENST00000258796.7:c.804C>T	p.Ser268=	p.S268=	ENST00000258796	NM_025250.2	268	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS34588.1	804	MUTECT|MUSE	.	TCCAGCGACTT	NONE	byFrequency	.	hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF4,Pfam_domain:PF04906	.	.	ENSP00000258796	.	7/14	.	.	.	.	.	.	.	.	rs763141261	7/14	PASS	ENST00000258796	Transcript	.	.	ENSG00000136295	22222	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TTYH3_HUMAN	TTYH3	HGNC	.	.	UPI000020E9F9	SNV	TTYH3,synonymous_variant,p.%3D,ENST00000258796,;TTYH3,synonymous_variant,p.%3D,ENST00000403167,;TTYH3,synonymous_variant,p.%3D,ENST00000407643,;TTYH3,downstream_gene_variant,,ENST00000400376,;TTYH3,non_coding_transcript_exon_variant,,ENST00000477439,;TTYH3,upstream_gene_variant,,ENST00000498454,;	1009	52	86	SUCCESS
WBSCR16	0	.	GRCh37	7	74480396	74480417	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGTAAATTTCATTTTCGACCAC	TGTAAATTTCATTTTCGACCAC	AT	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	TGTAAATTTCATTTTCGACCAC	TGTAAATTTCATTTTCGACCAC	.	.	.	.	.	.	.	.	.	.	.	.	.	376	75	446	0	ENST00000329959.4:c.628_649delinsAT	p.Val210MetfsTer2	p.V210Mfs*2	ENST00000329959	NM_030798.4	210	GTGGTCGAAAATGAAATTTACAgt/ATgt	0	.	.	.	.	.	AT	VVENEIYS/MX	protein_coding	YES	CCDS5577.1	628-649	INDELOCATOR*|PINDEL	.	CTCACCTGTAAATTTCATTTTCGACCACCTTTC	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF11,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000333799	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000329959	Transcript	.	.	ENSG00000174374	14948	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WBS16_HUMAN	WBSCR16	HGNC	B2RXG5_HUMAN	.	UPI00000015C1	substitution	WBSCR16,frameshift_variant,p.Val210MetfsTer2,ENST00000543840,;WBSCR16,frameshift_variant,p.Val210MetfsTer2,ENST00000503250,;WBSCR16,frameshift_variant,p.Val137MetfsTer2,ENST00000455375,;WBSCR16,frameshift_variant,p.Val210MetfsTer2,ENST00000329959,;WBSCR16,splice_region_variant,,ENST00000467007,;WBSCR16,splice_region_variant,,ENST00000478352,;	684-705	446	451	SUCCESS
AC118138.2	0	.	GRCh37	7	74766000	74766021	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	DEL	GTGGTCGAAAATGAAATTTACA	GTGGTCGAAAATGAAATTTACA	AT	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	GTGGTCGAAAATGAAATTTACA	GTGGTCGAAAATGAAATTTACA	.	.	.	.	.	.	.	.	.	.	.	.	.	295	115	421	0	ENST00000420642.1:n.125_146delinsAT		p.X42_splice	ENST00000420642		42		0	.	.	.	.	.	AT	.	processed_transcript	YES	.	.	INDELOCATOR*|PINDEL	.	AGAAAGGTGGTCGAAAATGAAATTTACAGGTGA	NONE	.	.	.	.	.	.	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000420642	Transcript	.	.	ENSG00000230195	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC118138.2	Clone_based_vega_gene	.	.	.	substitution	AC118138.2,splice_region_variant,,ENST00000420642,;AC118138.2,splice_donor_variant,,ENST00000417840,;	125-146	421	410	SUCCESS
CACNA2D1	781	.	GRCh37	7	81689806	81689806	+	synonymous_variant	Silent	SNP	G	G	T	rs754162606	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	66	0	ENST00000356253.5:c.817C>A	p.Arg273=	p.R273=	ENST00000356253		273	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS5598.1	817	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCGGATCA	NONE	byFrequency	.	Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,PROSITE_profiles:PS50234	.	.	ENSP00000349320	.	10/39	.	.	.	.	.	.	.	.	rs754162606	10/39	PASS	ENST00000356860	Transcript	.	.	ENSG00000153956	1399	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA2D1_HUMAN	CACNA2D1	HGNC	Q9UDU5_HUMAN,Q9UDQ3_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN	.	UPI00003674CD	SNV	CACNA2D1,synonymous_variant,p.%3D,ENST00000356253,;CACNA2D1,synonymous_variant,p.%3D,ENST00000356860,;CACNA2D1,synonymous_variant,p.%3D,ENST00000423588,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000461275,;	1156	66	99	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110509162	110509162	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs562593738	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	36	79	0	ENST00000378402.5:c.10342G>C	p.Val3448Leu	p.V3448L	ENST00000378402	NM_177531.4	3448	Gtg/Ctg	0	.	A:0.0008	.	A:0	.	C	V/L	protein_coding	YES	CCDS47911.1	10342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTGTGGAA	NONE	by1000G	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Pfam_domain:PF13229,Superfamily_domains:SSF51126	A:0	.	ENSP00000367655	A:0	64/78	.	.	.	.	.	.	.	.	rs562593738	64/78	PASS	ENST00000378402	Transcript	.	A:0.0002	ENSG00000205038	20313	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	A:0	tolerated(0.39)	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,missense_variant,p.Val376Leu,ENST00000526472,;PKHD1L1,missense_variant,p.Val3448Leu,ENST00000378402,;PKHD1L1,upstream_gene_variant,,ENST00000533183,;	10446	79	109	SUCCESS
TMEM66	0	.	GRCh37	8	29927547	29927547	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	30	0	ENST00000256255.6:c.311C>G	p.Ala104Gly	p.A104G	ENST00000256255	NM_016127.4	104	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS6074.1	311	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATGCAATA	NONE	.	.	Pfam_domain:PF06682,hmmpanther:PTHR15929	.	.	ENSP00000256255	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000256255	Transcript	.	.	ENSG00000133872	28789	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.984)	.	deleterious(0.01)	.	SARAF_HUMAN	TMEM66	HGNC	E5RHW0_HUMAN,B7Z307_HUMAN	.	UPI0000035F61	SNV	TMEM66,missense_variant,p.Ala95Gly,ENST00000523761,;TMEM66,missense_variant,p.Ala68Gly,ENST00000522794,;TMEM66,missense_variant,p.Ala2Gly,ENST00000523127,;TMEM66,missense_variant,p.Ala104Gly,ENST00000256255,;TMEM66,missense_variant,p.Ala104Gly,ENST00000521265,;TMEM66,5_prime_UTR_variant,,ENST00000545648,;TMEM66,5_prime_UTR_variant,,ENST00000536273,;TMEM66,upstream_gene_variant,,ENST00000518296,;TMEM66,downstream_gene_variant,,ENST00000521083,;TMEM66,3_prime_UTR_variant,,ENST00000518174,;TMEM66,3_prime_UTR_variant,,ENST00000520303,;TMEM66,3_prime_UTR_variant,,ENST00000518340,;TMEM66,3_prime_UTR_variant,,ENST00000522055,;TMEM66,upstream_gene_variant,,ENST00000521934,;TMEM66,downstream_gene_variant,,ENST00000517569,;	569	30	35	SUCCESS
LYN	4067	.	GRCh37	8	56866505	56866505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	58	121	0	ENST00000519728.1:c.752A>G	p.Lys251Arg	p.K251R	ENST00000519728	NM_002350.3	251	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS6162.1	752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGAAAAGGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112,Superfamily_domains:SSF55550	.	.	ENSP00000428924	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000519728	Transcript	.	.	ENSG00000254087	6735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.7)	.	LYN_HUMAN	LYN	HGNC	E5RJ37_HUMAN,B4DQ79_HUMAN	.	UPI000013DACD	SNV	LYN,missense_variant,p.Lys251Arg,ENST00000519728,;LYN,missense_variant,p.Lys230Arg,ENST00000520220,;LYN,downstream_gene_variant,,ENST00000520050,;LYN,upstream_gene_variant,,ENST00000420292,;	1048	121	185	SUCCESS
TRPA1	8989	.	GRCh37	8	72967803	72967803	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	406	95	414	1	ENST00000262209.4:c.1397T>C	p.Leu466Pro	p.L466P	ENST00000262209	NM_007332.2	466	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS34908.1	1397	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGTAGGAGC	NONE	.	.	PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000262209	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0)	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,missense_variant,p.Leu318Pro,ENST00000523582,;TRPA1,missense_variant,p.Leu466Pro,ENST00000262209,;RP11-383H13.1,downstream_gene_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,downstream_gene_variant,,ENST00000512290,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000520788,;RP11-383H13.1,downstream_gene_variant,,ENST00000522519,;	1605	415	502	SUCCESS
KIAA1958	158405	.	GRCh37	9	115337345	115337345	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	41	0	ENST00000337530.6:c.985C>T	p.Gln329Ter	p.Q329*	ENST00000337530	NM_001287038.1	329	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS35108.1	985	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAGCTG	NONE	.	.	hmmpanther:PTHR11697:SF98,hmmpanther:PTHR11697	.	.	ENSP00000336940	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000337530	Transcript	.	.	ENSG00000165185	23427	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1958_HUMAN	KIAA1958	HGNC	.	.	UPI000007327E	SNV	KIAA1958,stop_gained,p.Gln329Ter,ENST00000536272,;KIAA1958,stop_gained,p.Gln329Ter,ENST00000374244,;KIAA1958,stop_gained,p.Gln329Ter,ENST00000337530,;	1281	41	51	SUCCESS
RGS3	5998	.	GRCh37	9	116303703	116303703	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	69	0	ENST00000350696.5:c.2037+4505G>T		p.*679*	ENST00000350696				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43869.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGGCTGAG	NONE	.	.	.	.	.	ENSP00000363255	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374140	Transcript	.	.	ENSG00000138835	9999	.	.	MODIFIER	20/25	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS3_HUMAN	RGS3	HGNC	H7BXY1_HUMAN,C9J6G2_HUMAN	.	UPI00001C0F58	SNV	RGS3,missense_variant,p.Gly602Val,ENST00000317613,;RGS3,missense_variant,p.Gly340Val,ENST00000374136,;RGS3,intron_variant,,ENST00000343817,;RGS3,intron_variant,,ENST00000374140,;RGS3,intron_variant,,ENST00000496113,;RGS3,intron_variant,,ENST00000394646,;RGS3,intron_variant,,ENST00000462143,;RGS3,intron_variant,,ENST00000350696,;RGS3,non_coding_transcript_exon_variant,,ENST00000492676,;RGS3,downstream_gene_variant,,ENST00000470775,;RGS3,downstream_gene_variant,,ENST00000496264,;RGS3,intron_variant,,ENST00000478599,;RGS3,downstream_gene_variant,,ENST00000460000,;	.	69	109	SUCCESS
COL5A1	1289	.	GRCh37	9	137688730	137688730	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	31	90	0	ENST00000371817.3:c.2881G>A	p.Gly961Arg	p.G961R	ENST00000371817	NM_001278074.1	961	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS6982.1	2881	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTGGACCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	.	.	ENSP00000360882	.	36/66	.	.	.	.	.	.	.	.	.	36/66	PASS	ENST00000371817	Transcript	.	.	ENSG00000130635	2209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	CO5A1_HUMAN	COL5A1	HGNC	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN	.	UPI0000210EE3	SNV	COL5A1,missense_variant,p.Gly961Arg,ENST00000371817,;	3295	90	109	SUCCESS
ENTPD8	377841	.	GRCh37	9	140330564	140330564	+	synonymous_variant	Silent	SNP	G	G	C	rs775700409	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	115	62	127	0	ENST00000371506.2:c.951C>G	p.Val317=	p.V317=	ENST00000371506	NM_001033113.1	317	gtC/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS43913.1	951	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGACGCA	NONE	byFrequency	.	hmmpanther:PTHR11782:SF31,hmmpanther:PTHR11782,Pfam_domain:PF01150	.	.	ENSP00000360561	.	7/10	.	.	.	.	.	.	.	.	rs775700409	7/10	PASS	ENST00000371506	Transcript	.	.	ENSG00000188833	24860	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP8_HUMAN	ENTPD8	HGNC	.	.	UPI0000D6195D	SNV	ENTPD8,synonymous_variant,p.%3D,ENST00000371506,;ENTPD8,synonymous_variant,p.%3D,ENST00000344119,;ENTPD8,synonymous_variant,p.%3D,ENST00000472938,;NOXA1,downstream_gene_variant,,ENST00000341349,;ENTPD8,downstream_gene_variant,,ENST00000493135,;NOXA1,downstream_gene_variant,,ENST00000392815,;ENTPD8,non_coding_transcript_exon_variant,,ENST00000461823,;	1135	127	178	SUCCESS
FAM205B	0	.	GRCh37	9	34833806	34833806	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	245	9	200	0	ENST00000399773.6:n.2495T>C		p.*832*	ENST00000399773				0	.	.	.	.	.	G	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|MUSE	.	TCTTCAAATGA	NONE	.	.	.	.	.	.	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000399773	Transcript	.	.	ENSG00000257198	24504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FAM205B	HGNC	.	.	.	SNV	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;	2495	200	255	SUCCESS
RANBP6	26953	.	GRCh37	9	6015125	6015125	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149927185	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	36	83	0	ENST00000259569.5:c.483C>A	p.His161Gln	p.H161Q	ENST00000259569	NM_012416.3	161	caC/caA	0	A:0.0007	.	.	.	.	T	H/Q	protein_coding	YES	CCDS6467.1	483	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACGTGAAG	NONE	byCluster	.	Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527	.	A:0	ENSP00000259569	.	1/1	.	.	.	.	.	.	.	.	rs149927185	1/1	PASS	ENST00000259569	Transcript	.	.	ENSG00000137040	9851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.09)	.	tolerated(0.41)	.	RNBP6_HUMAN	RANBP6	HGNC	B4E340_HUMAN	.	UPI000013D061	SNV	RANBP6,missense_variant,p.His161Gln,ENST00000259569,;RANBP6,intron_variant,,ENST00000485372,;	494	83	123	SUCCESS
KANK1	23189	.	GRCh37	9	730216	730216	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	49	72	0	ENST00000382297.2:c.2864T>A	p.Leu955Gln	p.L955Q	ENST00000382297	NM_001256877.1	955	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS34976.1	2864	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACCTGACAG	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	.	.	ENSP00000371740	.	8/16	.	.	.	.	.	.	.	.	.	8/16	PASS	ENST00000382303	Transcript	.	.	ENSG00000107104	19309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.022)	.	tolerated(0.09)	.	KANK1_HUMAN	KANK1	HGNC	Q8WUM7_HUMAN,Q53U93_HUMAN	.	UPI00001AF26E	SNV	KANK1,missense_variant,p.Leu797Gln,ENST00000382293,;KANK1,missense_variant,p.Leu955Gln,ENST00000382303,;KANK1,missense_variant,p.Leu955Gln,ENST00000382297,;KANK1,upstream_gene_variant,,ENST00000382286,;KANK1,upstream_gene_variant,,ENST00000382289,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	3516	72	126	SUCCESS
PCSK5	5125	.	GRCh37	9	78808227	78808227	+	intron_variant	Intron	SNP	C	C	A	.	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	6	93	0	ENST00000545128.1:c.2626+3565C>A		p.*876*	ENST00000545128	NM_001190482.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55320.1	.	MUTECT|MUSE	.	AGGTTCTTCAA	NONE	.	.	.	.	.	ENSP00000446280	.	.	.	.	.	.	.	.	.	.	COSM1110136	.	PASS	ENST00000545128	Transcript	.	.	ENSG00000099139	8747	.	.	MODIFIER	20/36	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	PCSK5_HUMAN	PCSK5	HGNC	I0EZ71_HUMAN	.	UPI0001DAD817	SNV	PCSK5,missense_variant,p.Leu901Ile,ENST00000376752,;PCSK5,intron_variant,,ENST00000424854,;PCSK5,intron_variant,,ENST00000545128,;PCSK5,intron_variant,,ENST00000455778,;	.	93	136	SUCCESS
IRS4	8471	.	GRCh37	X	107978082	107978082	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	53	115	0	ENST00000372129.2:c.1493G>A	p.Gly498Asp	p.G498D	ENST00000372129	NM_003604.2	498	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS14544.1	1493	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCCATTT	NONE	.	.	hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,Low_complexity_(Seg):seg	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.07)	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,missense_variant,p.Gly498Asp,ENST00000372129,;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	1570	115	140	SUCCESS
THOC2	57187	.	GRCh37	X	122759851	122759851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	564	120	450	1	ENST00000245838.8:c.2969C>A	p.Ala990Glu	p.A990E	ENST00000245838	NM_001081550.1	990	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS43988.1	2969	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTGCTGAA	NONE	.	.	hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1,Pfam_domain:PF11262	.	.	ENSP00000245838	.	25/39	.	.	.	.	.	.	.	.	.	25/39	PASS	ENST00000245838	Transcript	.	.	ENSG00000125676	19073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0)	.	THOC2_HUMAN	THOC2	HGNC	.	.	UPI00001D7C42	SNV	THOC2,missense_variant,p.Ala990Glu,ENST00000245838,;THOC2,missense_variant,p.Ala63Glu,ENST00000438358,;THOC2,missense_variant,p.Ala875Glu,ENST00000491737,;THOC2,missense_variant,p.Ala990Glu,ENST00000355725,;THOC2,upstream_gene_variant,,ENST00000441692,;THOC2,upstream_gene_variant,,ENST00000448128,;THOC2,upstream_gene_variant,,ENST00000459945,;THOC2,upstream_gene_variant,,ENST00000464982,;THOC2,upstream_gene_variant,,ENST00000464161,;THOC2,upstream_gene_variant,,ENST00000432353,;THOC2,upstream_gene_variant,,ENST00000464604,;	3001	451	684	SUCCESS
GPR112	0	.	GRCh37	X	135429239	135429239	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	49	137	0	ENST00000370652.1:c.3374A>G	p.Glu1125Gly	p.E1125G	ENST00000370652		1125	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS35409.1	3374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGAGACCA	NONE	.	.	hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	.	.	ENSP00000377699	.	6/26	.	.	.	.	.	.	.	.	.	6/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.14)	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,missense_variant,p.Glu1062Gly,ENST00000287534,;GPR112,missense_variant,p.Glu1125Gly,ENST00000370652,;GPR112,missense_variant,p.Glu1125Gly,ENST00000394143,;GPR112,missense_variant,p.Glu920Gly,ENST00000394141,;GPR112,missense_variant,p.Glu920Gly,ENST00000412101,;	3665	137	171	SUCCESS
DKC1	1736	.	GRCh37	X	153991251	153991251	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	208	113	251	0	ENST00000369550.5:c.11C>T	p.Ala4Val	p.A4V	ENST00000369550	NM_001363.3	4	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS14761.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGCGGAAG	NONE	.	.	hmmpanther:PTHR23127	.	.	ENSP00000358563	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000369550	Transcript	.	.	ENSG00000130826	2890	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	deleterious_low_confidence(0.03)	.	DKC1_HUMAN	DKC1	HGNC	.	.	UPI00000325ED	SNV	DKC1,missense_variant,p.Ala4Val,ENST00000369550,;DKC1,missense_variant,p.Ala4Val,ENST00000413910,;DKC1,upstream_gene_variant,,ENST00000437719,;DKC1,non_coding_transcript_exon_variant,,ENST00000473552,;DKC1,non_coding_transcript_exon_variant,,ENST00000475423,;DKC1,upstream_gene_variant,,ENST00000412124,;DKC1,upstream_gene_variant,,ENST00000452771,;DKC1,upstream_gene_variant,,ENST00000426673,;	221	251	321	SUCCESS
CASK	8573	.	GRCh37	X	41379791	41379791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	46	0	ENST00000378163.1:c.2663A>T	p.His888Leu	p.H888L	ENST00000378163		888	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS14257.1	2648	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGTGTGCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40,PROSITE_profiles:PS50052	.	.	ENSP00000367408	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000378166	Transcript	.	.	ENSG00000147044	1497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	CSKP_HUMAN	CASK	HGNC	.	.	UPI000013DA91	SNV	CASK,missense_variant,p.His859Leu,ENST00000421587,;CASK,missense_variant,p.His860Leu,ENST00000442742,;CASK,missense_variant,p.His883Leu,ENST00000378166,;CASK,missense_variant,p.His883Leu,ENST00000318588,;CASK,missense_variant,p.His480Leu,ENST00000378179,;CASK,missense_variant,p.His888Leu,ENST00000378163,;CASK,missense_variant,p.His871Leu,ENST00000361962,;CASK,missense_variant,p.His871Leu,ENST00000378158,;CASK,missense_variant,p.His343Leu,ENST00000378168,;CASK-AS1,intron_variant,,ENST00000451126,;	2675	46	81	SUCCESS
RIBC1	158787	.	GRCh37	X	53455601	53455616	+	intron_variant	Intron	DEL	AGAGACCTGAGGCCTA	AGAGACCTGAGGCCTA	-	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	AGAGACCTGAGGCCTA	AGAGACCTGAGGCCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	258	76	263	0	ENST00000375327.3:c.544+26_544+41del		p.*182*	ENST00000375327	NM_001031745.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS35299.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGACTCAGAGACCTGAGGCCTAGTGGG	NONE	.	.	.	.	.	ENSP00000364476	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375327	Transcript	.	.	ENSG00000158423	26537	.	.	MODIFIER	5/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RIBC1_HUMAN	RIBC1	HGNC	.	.	UPI0000049C83	deletion	RIBC1,coding_sequence_variant,,ENST00000457095,;RIBC1,intron_variant,,ENST00000414955,;RIBC1,intron_variant,,ENST00000375327,;HSD17B10,downstream_gene_variant,,ENST00000375304,;RIBC1,downstream_gene_variant,,ENST00000329209,;HSD17B10,downstream_gene_variant,,ENST00000375298,;HSD17B10,downstream_gene_variant,,ENST00000168216,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;RIBC1,intron_variant,,ENST00000490702,;HSD17B10,downstream_gene_variant,,ENST00000477706,;HSD17B10,downstream_gene_variant,,ENST00000495986,;	.	263	334	SUCCESS
HUWE1	10075	.	GRCh37	X	53574709	53574709	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	28	129	0	ENST00000262854.6:c.10561A>G	p.Thr3521Ala	p.T3521A	ENST00000262854	NM_031407.5	3521	Acg/Gcg	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS35301.1	10561	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCGTGGCAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	.	.	ENSP00000340648	.	67/83	.	.	.	.	.	.	.	.	.	67/83	PASS	ENST00000342160	Transcript	.	.	ENSG00000086758	30892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	HUWE1_HUMAN	HUWE1	HGNC	Q5H963_HUMAN	.	UPI00004A0DAC	SNV	HUWE1,missense_variant,p.Thr3521Ala,ENST00000342160,;HUWE1,missense_variant,p.Thr3521Ala,ENST00000262854,;HUWE1,missense_variant,p.Thr2555Ala,ENST00000427052,;HUWE1,missense_variant,p.Thr359Ala,ENST00000426907,;HUWE1,non_coding_transcript_exon_variant,,ENST00000474288,;HUWE1,non_coding_transcript_exon_variant,,ENST00000468322,;HUWE1,upstream_gene_variant,,ENST00000463852,;	11019	129	159	SUCCESS
A1CF	29974	.	GRCh37	10	52601663	52601663	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	25	80	0	ENST00000373993.1:c.324A>T	p.Glu108Asp	p.E108D	ENST00000373993		108	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS7243.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTTCCAC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000363107	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000373995	Transcript	.	.	ENSG00000148584	24086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.47)	.	A1CF_HUMAN	A1CF	HGNC	.	.	UPI000013DB32	SNV	A1CF,missense_variant,p.Glu108Asp,ENST00000414883,;A1CF,missense_variant,p.Glu108Asp,ENST00000373993,;A1CF,missense_variant,p.Glu108Asp,ENST00000282641,;A1CF,missense_variant,p.Glu108Asp,ENST00000395495,;A1CF,missense_variant,p.Glu108Asp,ENST00000374001,;A1CF,missense_variant,p.Glu116Asp,ENST00000373995,;A1CF,missense_variant,p.Glu108Asp,ENST00000373997,;A1CF,missense_variant,p.Glu101Asp,ENST00000395489,;A1CF,non_coding_transcript_exon_variant,,ENST00000473480,;	607	80	67	SUCCESS
PRKG1	5592	.	GRCh37	10	54042052	54042052	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	45	131	0	ENST00000373985.1:c.1604T>C	p.Leu535Pro	p.L535P	ENST00000373985	NM_001098512.2	535	cTa/cCa	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS7244.1	1685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCCTAATGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000559,Superfamily_domains:SSF56112	.	.	ENSP00000363092	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,missense_variant,p.Leu547Pro,ENST00000401604,;PRKG1,missense_variant,p.Leu265Pro,ENST00000373975,;PRKG1,missense_variant,p.Leu535Pro,ENST00000373985,;PRKG1,missense_variant,p.Leu562Pro,ENST00000373980,;PRKG1-AS1,intron_variant,,ENST00000452247,;PRKG1-AS1,intron_variant,,ENST00000426785,;	2102	131	130	SUCCESS
SLIT1	6585	.	GRCh37	10	98924583	98924583	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs770689075	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	48	0	ENST00000266058.4:c.262C>T	p.Arg88Trp	p.R88W	ENST00000266058	NM_003061.2	88	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS7453.1	262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGCAGCT	NONE	.	.	PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000266058	.	2/37	.	.	.	.	.	.	.	.	rs770689075	2/37	PASS	ENST00000266058	Transcript	.	.	ENSG00000187122	11085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.956)	.	deleterious(0)	.	SLIT1_HUMAN	SLIT1	HGNC	.	.	UPI00001F9491	SNV	SLIT1,missense_variant,p.Arg88Trp,ENST00000371041,;SLIT1,missense_variant,p.Arg71Trp,ENST00000314867,;SLIT1,missense_variant,p.Arg88Trp,ENST00000371070,;SLIT1,missense_variant,p.Arg88Trp,ENST00000266058,;ARHGAP19-SLIT1,synonymous_variant,p.%3D,ENST00000453547,;SLIT1,non_coding_transcript_exon_variant,,ENST00000456008,;ARHGAP19-SLIT1,synonymous_variant,p.%3D,ENST00000479633,;	508	48	61	SUCCESS
APOA4	337	.	GRCh37	11	116692001	116692001	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	58	0	ENST00000357780.3:c.773C>G	p.Ala258Gly	p.A258G	ENST00000357780	NM_000482.3	258	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS31681.1	773	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGGCCGAG	NONE	.	.	Superfamily_domains:0053393,Gene3D:1.20.120.20,Pfam_domain:PF01442,hmmpanther:PTHR18976,hmmpanther:PTHR18976:SF1,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000350425	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000357780	Transcript	.	.	ENSG00000110244	602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.222)	.	tolerated(0.05)	.	APOA4_HUMAN	APOA4	HGNC	.	.	UPI00001AE660	SNV	APOA4,missense_variant,p.Ala258Gly,ENST00000357780,;	888	58	38	SUCCESS
EHF	26298	.	GRCh37	11	34680176	34680176	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	42	134	0	ENST00000257831.3:c.704G>A	p.Gly235Asp	p.G235D	ENST00000257831	NM_012153.5	235	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS55752.1	770	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGGGCGTCT	NONE	.	.	Prints_domain:PR00454,Superfamily_domains:SSF46785,SMART_domains:SM00413,Pfam_domain:PF00178,Gene3D:1.10.10.10,hmmpanther:PTHR11849:SF171,hmmpanther:PTHR11849,PROSITE_profiles:PS50061	.	.	ENSP00000435835	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000531794	Transcript	.	.	ENSG00000135373	3246	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	EHF_HUMAN	EHF	HGNC	E9PQX0_HUMAN,E9PQR6_HUMAN	.	UPI0001892666	SNV	EHF,missense_variant,p.Gly235Asp,ENST00000530286,;EHF,missense_variant,p.Gly235Asp,ENST00000257831,;EHF,missense_variant,p.Gly257Asp,ENST00000531794,;EHF,missense_variant,p.Gly212Asp,ENST00000450654,;EHF,missense_variant,p.Gly235Asp,ENST00000533754,;EHF,downstream_gene_variant,,ENST00000529527,;	896	134	147	SUCCESS
SF3B2	10992	.	GRCh37	11	65828119	65828119	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	44	126	0	ENST00000322535.6:c.1696A>G	p.Ile566Val	p.I566V	ENST00000322535	NM_006842.2	566	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS31612.1	1696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACATCGAC	NONE	.	.	hmmpanther:PTHR12785,hmmpanther:PTHR12785:SF6,Pfam_domain:PF04037	.	.	ENSP00000318861	.	14/22	.	.	.	.	.	.	.	.	.	14/22	PASS	ENST00000322535	Transcript	.	.	ENSG00000087365	10769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.309)	.	deleterious(0.03)	.	SF3B2_HUMAN	SF3B2	HGNC	E9PIL8_HUMAN	.	UPI00001C1F20	SNV	SF3B2,missense_variant,p.Ile566Val,ENST00000322535,;SF3B2,missense_variant,p.Ile549Val,ENST00000528302,;SF3B2,upstream_gene_variant,,ENST00000530981,;SF3B2,downstream_gene_variant,,ENST00000530322,;SF3B2,downstream_gene_variant,,ENST00000524627,;SF3B2,downstream_gene_variant,,ENST00000533595,;SF3B2,non_coding_transcript_exon_variant,,ENST00000529994,;SF3B2,upstream_gene_variant,,ENST00000534765,;SF3B2,downstream_gene_variant,,ENST00000526653,;SF3B2,downstream_gene_variant,,ENST00000525207,;	1745	126	132	SUCCESS
MYO7A	4647	.	GRCh37	11	76909563	76909563	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1265094428	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	51	0	ENST00000409709.3:c.4465G>A	p.Val1489Ile	p.V1489I	ENST00000409709	NM_000260.3	1489	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS53683.1	4465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGACGTCATC	NONE	.	.	PROSITE_profiles:PS50057	.	.	ENSP00000386331	.	34/49	.	.	.	.	.	.	.	.	COSM1492731	34/49	PASS	ENST00000409709	Transcript	.	.	ENSG00000137474	7606	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.397)	.	tolerated(0.2)	1	MYO7A_HUMAN	MYO7A	HGNC	.	.	UPI00001FAFE6	SNV	MYO7A,missense_variant,p.Val670Ile,ENST00000458169,;MYO7A,missense_variant,p.Val1478Ile,ENST00000409619,;MYO7A,missense_variant,p.Val1489Ile,ENST00000409709,;MYO7A,missense_variant,p.Val1489Ile,ENST00000458637,;MYO7A,upstream_gene_variant,,ENST00000605744,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;	4737	51	40	SUCCESS
FAM216A	29902	.	GRCh37	12	110924510	110924510	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs760081893	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	24	75	0	ENST00000377673.5:c.608G>A	p.Arg203Lys	p.R203K	ENST00000377673	NM_013300.2	203	aGa/aAa	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS31899.1	608	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAGAAACA	NONE	.	.	hmmpanther:PTHR16476:SF1,hmmpanther:PTHR16476	.	.	ENSP00000366901	.	5/7	.	.	.	.	.	.	.	.	rs760081893	5/7	PASS	ENST00000377673	Transcript	.	.	ENSG00000204856	30180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	deleterious_low_confidence(0.04)	.	F216A_HUMAN	FAM216A	HGNC	.	.	UPI0000073200	SNV	FAM216A,missense_variant,p.Arg203Lys,ENST00000377673,;VPS29,downstream_gene_variant,,ENST00000546588,;VPS29,downstream_gene_variant,,ENST00000549578,;VPS29,downstream_gene_variant,,ENST00000552130,;VPS29,downstream_gene_variant,,ENST00000447578,;VPS29,downstream_gene_variant,,ENST00000360579,;FAM216A,3_prime_UTR_variant,,ENST00000548449,;FAM216A,non_coding_transcript_exon_variant,,ENST00000546396,;FAM216A,non_coding_transcript_exon_variant,,ENST00000548869,;FAM216A,non_coding_transcript_exon_variant,,ENST00000538285,;FAM216A,upstream_gene_variant,,ENST00000547539,;	1120	75	112	SUCCESS
TMEM233	387890	.	GRCh37	12	120031495	120031495	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	23	0	ENST00000426426.1:c.-159C>T		p.*53*	ENST00000426426	NM_001136534.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44995.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCCGGGCG	NONE	.	.	.	.	.	ENSP00000403130	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000426426	Transcript	.	.	ENSG00000224982	37219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM233_HUMAN	TMEM233	HGNC	.	.	UPI00001FBC4E	SNV	TMEM233,5_prime_UTR_variant,,ENST00000426426,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;TMEM233,upstream_gene_variant,,ENST00000453450,;	232	23	14	SUCCESS
VPS33A	65082	.	GRCh37	12	122750971	122750971	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs371640154	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	73	0	ENST00000267199.4:c.-16G>A		p.*6*	ENST00000267199	NM_022916.4			0	G:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS9231.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCCCTGCC	NONE	byFrequency|byCluster	.	.	.	G:0.0001	ENSP00000267199	.	1/13	.	.	.	.	.	.	.	.	rs371640154	1/13	PASS	ENST00000267199	Transcript	.	.	ENSG00000139719	18179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VP33A_HUMAN	VPS33A	HGNC	Q9H6C4_HUMAN	.	UPI000000D7AA	SNV	VPS33A,5_prime_UTR_variant,,ENST00000267199,;VPS33A,upstream_gene_variant,,ENST00000451053,;VPS33A,upstream_gene_variant,,ENST00000542310,;VPS33A,5_prime_UTR_variant,,ENST00000543633,;VPS33A,non_coding_transcript_exon_variant,,ENST00000544349,;RP11-512M8.5,upstream_gene_variant,,ENST00000535844,;	98	73	61	SUCCESS
LDHB	3945	.	GRCh37	12	21799847	21799847	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	16	52	0	ENST00000350669.1:c.233T>G	p.Ile78Ser	p.I78S	ENST00000350669	NM_002300.6	78	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS8691.1	233	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAATTTTA	NONE	.	.	Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000102,Pfam_domain:PF00056,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01771,hmmpanther:PTHR11540,hmmpanther:PTHR11540:SF12,HAMAP:MF_00488	.	.	ENSP00000379386	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000396076	Transcript	.	.	ENSG00000111716	6541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.188)	.	deleterious(0.02)	.	LDHB_HUMAN	LDHB	HGNC	Q5U077_HUMAN,F5H793_HUMAN,C9J7H8_HUMAN,A8MW50_HUMAN	.	UPI000013C8F6	SNV	LDHB,missense_variant,p.Ile78Ser,ENST00000450584,;LDHB,missense_variant,p.Ile78Ser,ENST00000396076,;LDHB,missense_variant,p.Ile78Ser,ENST00000350669,;LDHB,missense_variant,p.Ile78Ser,ENST00000396075,;LDHB,missense_variant,p.Ile78Ser,ENST00000539782,;LDHB,non_coding_transcript_exon_variant,,ENST00000470280,;	566	52	56	SUCCESS
KRT74	121391	.	GRCh37	12	52964526	52964526	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	68	0	ENST00000305620.2:c.935C>T	p.Ala312Val	p.A312V	ENST00000305620	NM_175053.3	312	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS8832.1	935	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGCGATG	NONE	.	.	hmmpanther:PTHR23239:SF94,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000307240	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000305620	Transcript	.	.	ENSG00000170484	28929	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	deleterious(0)	.	K2C74_HUMAN	KRT74	HGNC	.	.	UPI00001AEDF9	SNV	KRT74,missense_variant,p.Ala312Val,ENST00000305620,;KRT74,missense_variant,p.Ala312Val,ENST00000549343,;KRT74,upstream_gene_variant,,ENST00000546384,;	983	69	85	SUCCESS
KL	9365	.	GRCh37	13	33591317	33591317	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs867215187	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	19	33	0	ENST00000380099.3:c.739G>A	p.Gly247Ser	p.G247S	ENST00000380099	NM_004795.3	247	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS9347.1	739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACGGCTAC	NONE	.	.	hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	.	.	ENSP00000369442	.	1/5	.	.	.	.	.	.	.	.	COSM4047135	1/5	PASS	ENST00000380099	Transcript	.	.	ENSG00000133116	6344	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	KLOT_HUMAN	KL	HGNC	G3XKV3_HUMAN	.	UPI000013CEBA	SNV	KL,missense_variant,p.Gly247Ser,ENST00000380099,;KL,intron_variant,,ENST00000426690,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;	747	33	63	SUCCESS
HSP90AA1	3320	.	GRCh37	14	102549308	102549308	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	37	124	1	ENST00000216281.8:c.1755+63C>T		p.*585*	ENST00000216281	NM_005348.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32160.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATGTATGA	NONE	.	.	.	.	.	ENSP00000335153	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	MODIFIER	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	SNV	HSP90AA1,3_prime_UTR_variant,,ENST00000441629,;HSP90AA1,intron_variant,,ENST00000334701,;HSP90AA1,intron_variant,,ENST00000216281,;HSP90AA1,downstream_gene_variant,,ENST00000553585,;HSP90AA1,3_prime_UTR_variant,,ENST00000554401,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;HSP90AA1,downstream_gene_variant,,ENST00000560130,;HSP90AA1,downstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;	.	125	140	SUCCESS
IGHV3-23	28442	.	GRCh37	14	106725343	106725343	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs781828337	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	28	116	0	ENST00000390609.2:c.209T>C	p.Ile70Thr	p.I70T	ENST00000390609		70	aTt/aCt	0	.	.	.	.	.	G	I/T	IG_V_gene	YES	.	209	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTAATAGCT	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375018	.	2/2	.	.	.	.	.	.	.	.	rs781828337	2/2	PASS	ENST00000390609	Transcript	.	.	ENSG00000211949	5588	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	deleterious_low_confidence(0.01)	.	.	IGHV3-23	HGNC	.	.	UPI0000113BD6	SNV	IGHV3-23,missense_variant,p.Ile70Thr,ENST00000390609,;IGHVIII-22-2,upstream_gene_variant,,ENST00000518246,;	288	116	129	SUCCESS
NFATC4	4776	.	GRCh37	14	24845611	24845611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	21	93	0	ENST00000250373.4:c.2168C>T	p.Pro723Leu	p.P723L	ENST00000250373	NM_004554.4	723	cCc/cTc	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45089.1	2357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCCTCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9	.	.	ENSP00000388910	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.172)	.	deleterious(0)	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,missense_variant,p.Pro723Leu,ENST00000554050,;NFATC4,missense_variant,p.Pro711Leu,ENST00000422617,;NFATC4,missense_variant,p.Pro723Leu,ENST00000250373,;NFATC4,missense_variant,p.Pro258Leu,ENST00000554473,;NFATC4,missense_variant,p.Pro736Leu,ENST00000555590,;NFATC4,missense_variant,p.Pro711Leu,ENST00000556169,;NFATC4,missense_variant,p.Pro755Leu,ENST00000553469,;NFATC4,missense_variant,p.Pro755Leu,ENST00000539237,;NFATC4,missense_variant,p.Pro653Leu,ENST00000554661,;NFATC4,missense_variant,p.Pro258Leu,ENST00000555167,;NFATC4,missense_variant,p.Pro711Leu,ENST00000555453,;NFATC4,missense_variant,p.Pro723Leu,ENST00000553708,;NFATC4,missense_variant,p.Pro653Leu,ENST00000557451,;NFATC4,missense_variant,p.Pro786Leu,ENST00000413692,;NFATC4,missense_variant,p.Pro755Leu,ENST00000556279,;NFATC4,missense_variant,p.Pro653Leu,ENST00000553879,;NFATC4,missense_variant,p.Pro11Leu,ENST00000557767,;NFATC4,missense_variant,p.Pro736Leu,ENST00000424781,;NFATC4,missense_variant,p.Pro786Leu,ENST00000554591,;NFATC4,missense_variant,p.Pro258Leu,ENST00000556759,;NFATC4,missense_variant,p.Pro11Leu,ENST00000555802,;NFATC4,missense_variant,p.Pro11Leu,ENST00000555393,;NFATC4,missense_variant,p.Pro736Leu,ENST00000554966,;NFATC4,missense_variant,p.Pro653Leu,ENST00000554344,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,intron_variant,,ENST00000555821,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,downstream_gene_variant,,ENST00000557028,;NFATC4,downstream_gene_variant,,ENST00000556957,;NFATC4,downstream_gene_variant,,ENST00000556302,;	2501	93	118	SUCCESS
TOMM20L	387990	.	GRCh37	14	58862667	58862667	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs1594992975	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	104	0	ENST00000360945.2:c.-9C>A		p.*3*	ENST00000360945	NM_207377.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9734.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCCGCGGT	NONE	.	.	.	.	.	ENSP00000354204	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000360945	Transcript	.	.	ENSG00000196860	33752	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TO20L_HUMAN	TOMM20L	HGNC	.	.	UPI00001D696D	SNV	TOMM20L,5_prime_UTR_variant,,ENST00000360945,;RP11-517O13.1,upstream_gene_variant,,ENST00000556734,;RP11-517O13.3,upstream_gene_variant,,ENST00000556390,;TOMM20L,5_prime_UTR_variant,,ENST00000557754,;	34	104	83	SUCCESS
GPHN	10243	.	GRCh37	14	67525478	67525478	+	synonymous_variant	Silent	SNP	T	T	A	rs766338596	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	43	0	ENST00000315266.5:c.1020T>A	p.Leu340=	p.L340=	ENST00000315266	NM_001024218.1	340	ctT/ctA	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS9777.1	1119	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTTGGGAC	NONE	.	.	hmmpanther:PTHR10192:SF5,hmmpanther:PTHR10192,Pfam_domain:PF03453,Superfamily_domains:SSF63882	.	.	ENSP00000417901	.	11/23	.	.	.	.	.	.	.	.	rs766338596	11/23	PASS	ENST00000478722	Transcript	.	.	ENSG00000171723	15465	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GEPH_HUMAN	GPHN	HGNC	.	.	UPI0000072592	SNV	GPHN,synonymous_variant,p.%3D,ENST00000459628,;GPHN,synonymous_variant,p.%3D,ENST00000543237,;GPHN,synonymous_variant,p.%3D,ENST00000305960,;GPHN,synonymous_variant,p.%3D,ENST00000315266,;GPHN,synonymous_variant,p.%3D,ENST00000478722,;GPHN,downstream_gene_variant,,ENST00000555456,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,non_coding_transcript_exon_variant,,ENST00000556501,;	2240	43	48	SUCCESS
LRRK1	79705	.	GRCh37	15	101606848	101606848	+	synonymous_variant	Silent	SNP	C	C	T	rs41334650	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	41	140	0	ENST00000388948.3:c.5772C>T	p.Arg1924=	p.R1924=	ENST00000388948	NM_024652.3	1924	cgC/cgT	0	.	T:0	.	T:0	.	T	R	protein_coding	YES	CCDS42086.1	5772	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGCGGTGG	NONE	byFrequency|byCluster|by1000G	.	.	T:0.0109	.	ENSP00000373600	T:0	33/34	.	.	.	.	.	.	.	.	rs41334650	33/34	common_in_exac	ENST00000388948	Transcript	.	T:0.0022	ENSG00000154237	18608	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,synonymous_variant,p.%3D,ENST00000388948,;LRRK1,synonymous_variant,p.%3D,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,synonymous_variant,p.%3D,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;	6131	140	131	SUCCESS
CIITA	4261	.	GRCh37	16	10989526	10989526	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	rs200879588	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	113	0	ENST00000324288.8:c.200A>T	p.Glu67Val	p.E67V	ENST00000324288	NM_000246.3	67	gAa/gTa	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS10544.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAACCCG	NONE	byCluster	.	.	.	.	ENSP00000316328	.	3/20	.	.	.	.	.	.	.	.	rs200879588	3/20	PASS	ENST00000324288	Transcript	.	.	ENSG00000179583	7067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.613)	.	deleterious(0)	.	C2TA_HUMAN	CIITA	HGNC	I3L2E5_HUMAN	.	UPI0000456914	SNV	CIITA,missense_variant,p.Glu67Val,ENST00000381835,;CIITA,missense_variant,p.Glu67Val,ENST00000324288,;CIITA,missense_variant,p.Glu43Val,ENST00000576601,;CIITA,splice_region_variant,,ENST00000537380,;CIITA,missense_variant,p.Glu67Val,ENST00000571186,;CIITA,splice_region_variant,,ENST00000573309,;CIITA,splice_region_variant,,ENST00000570546,;	333	113	108	SUCCESS
POLR3E	55718	.	GRCh37	16	22325438	22325438	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	61	0	ENST00000299853.5:c.511A>G	p.Lys171Glu	p.K171E	ENST00000299853	NM_001258033.1	171	Aag/Gag	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS10605.1	511	MUTECT|MUSE	.	ATGTTAAGCAG	NONE	.	.	hmmpanther:PTHR12069,Pfam_domain:PF04801	.	.	ENSP00000299853	.	8/21	.	.	.	.	.	.	.	.	.	8/21	PASS	ENST00000299853	Transcript	.	.	ENSG00000058600	30347	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.224)	.	deleterious(0.01)	.	RPC5_HUMAN	POLR3E	HGNC	H3BSI5_HUMAN,H3BRY1_HUMAN,H3BNJ0_HUMAN	.	UPI000006D8F8	SNV	POLR3E,missense_variant,p.Lys135Glu,ENST00000418581,;POLR3E,missense_variant,p.Lys171Glu,ENST00000299853,;POLR3E,missense_variant,p.Lys171Glu,ENST00000564209,;POLR3E,missense_variant,p.Lys171Glu,ENST00000359210,;POLR3E,downstream_gene_variant,,ENST00000564883,;POLR3E,downstream_gene_variant,,ENST00000565358,;POLR3E,upstream_gene_variant,,ENST00000569757,;POLR3E,downstream_gene_variant,,ENST00000563024,;POLR3E,downstream_gene_variant,,ENST00000564256,;POLR3E,3_prime_UTR_variant,,ENST00000564750,;POLR3E,3_prime_UTR_variant,,ENST00000565551,;POLR3E,non_coding_transcript_exon_variant,,ENST00000564061,;POLR3E,upstream_gene_variant,,ENST00000569787,;POLR3E,downstream_gene_variant,,ENST00000563766,;POLR3E,downstream_gene_variant,,ENST00000561494,;	678	61	73	SUCCESS
WASH4P	374677	.	GRCh37	16	67613	67613	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	71	225	0	ENST00000326592.9:c.438G>A	p.Arg146=	p.R146=	ENST00000326592		146	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	.	438	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGCCCGCTC	NONE	.	.	hmmpanther:PTHR23331:SF1,hmmpanther:PTHR23331,Pfam_domain:PF11945	.	.	ENSP00000317542	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000326592	Transcript	.	.	ENSG00000234769	14126	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WASH4_HUMAN	WASH4P	HGNC	H3BUR0_HUMAN	.	UPI000066D93A	SNV	WASH4P,synonymous_variant,p.%3D,ENST00000326592,;Z84812.4,non_coding_transcript_exon_variant,,ENST00000568710,;DDX11L10,downstream_gene_variant,,ENST00000513886,;WASH4P,missense_variant,p.Gly160Glu,ENST00000538848,;WASH4P,synonymous_variant,p.%3D,ENST00000483390,;WASH4P,3_prime_UTR_variant,,ENST00000462860,;WASH4P,3_prime_UTR_variant,,ENST00000495251,;WASH4P,non_coding_transcript_exon_variant,,ENST00000477365,;WASH4P,non_coding_transcript_exon_variant,,ENST00000564273,;WASH4P,non_coding_transcript_exon_variant,,ENST00000470725,;WASH4P,upstream_gene_variant,,ENST00000487568,;WASH4P,upstream_gene_variant,,ENST00000470283,;WASH4P,upstream_gene_variant,,ENST00000468574,;WASH4P,upstream_gene_variant,,ENST00000474799,;WASH4P,downstream_gene_variant,,ENST00000494585,;DDX11L10,downstream_gene_variant,,ENST00000545636,;DDX11L10,downstream_gene_variant,,ENST00000430178,;	1097	225	201	SUCCESS
ATMIN	23300	.	GRCh37	16	81075037	81075037	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	111	352	0	ENST00000299575.4:c.413G>A	p.Cys138Tyr	p.C138Y	ENST00000299575	NM_015251.2	138	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS32494.1	413	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGCCCCA	NONE	.	.	hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF10,Pfam_domain:PF13894,SMART_domains:SM00355	.	.	ENSP00000299575	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000299575	Transcript	.	.	ENSG00000166454	29034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	ATMIN_HUMAN	ATMIN	HGNC	J3QRX7_HUMAN,D3DUL0_HUMAN	.	UPI00001B2485	SNV	ATMIN,missense_variant,p.Cys138Tyr,ENST00000299575,;ATMIN,5_prime_UTR_variant,,ENST00000566488,;ATMIN,5_prime_UTR_variant,,ENST00000564241,;ATMIN,5_prime_UTR_variant,,ENST00000565237,;ATMIN,non_coding_transcript_exon_variant,,ENST00000539819,;ATMIN,non_coding_transcript_exon_variant,,ENST00000562969,;	437	352	245	SUCCESS
OSGIN1	29948	.	GRCh37	16	83999211	83999211	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148300856	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	50	0	ENST00000343939.2:c.1282C>T	p.Arg428Trp	p.R428W	ENST00000343939		428	Cgg/Tgg	0	T:0.0005	.	.	.	.	T	R/W	protein_coding	YES	CCDS10939.1	1033	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGCGGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF15,Gene3D:3.50.50.60	.	T:0	ENSP00000355374	.	6/6	.	.	.	.	.	.	.	.	rs148300856	6/6	PASS	ENST00000361711	Transcript	.	.	ENSG00000140961	30093	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.937)	.	tolerated(0.15)	.	OSGI1_HUMAN	OSGIN1	HGNC	J3KRK7_HUMAN,H3BTF9_HUMAN	.	UPI000006CF29	SNV	OSGIN1,missense_variant,p.Arg345Trp,ENST00000361711,;OSGIN1,missense_variant,p.Arg428Trp,ENST00000343939,;OSGIN1,missense_variant,p.Arg345Trp,ENST00000393306,;OSGIN1,downstream_gene_variant,,ENST00000565123,;NECAB2,upstream_gene_variant,,ENST00000305202,;OSGIN1,downstream_gene_variant,,ENST00000567707,;	1505	50	32	SUCCESS
ELAC2	60528	.	GRCh37	17	12921302	12921302	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	30	0	ENST00000338034.4:c.-38T>A		p.*13*	ENST00000338034	NM_018127.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11164.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCACCTAC	NONE	.	.	.	.	.	ENSP00000337445	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000338034	Transcript	.	.	ENSG00000006744	14198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNZ2_HUMAN	ELAC2	HGNC	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN	.	UPI000004A07E	SNV	ELAC2,splice_region_variant,,ENST00000583371,;ELAC2,5_prime_UTR_variant,,ENST00000426905,;ELAC2,5_prime_UTR_variant,,ENST00000395962,;ELAC2,5_prime_UTR_variant,,ENST00000338034,;ELAC2,upstream_gene_variant,,ENST00000609101,;ELAC2,upstream_gene_variant,,ENST00000584650,;ELAC2,upstream_gene_variant,,ENST00000580504,;ELAC2,upstream_gene_variant,,ENST00000578071,;ELAC2,upstream_gene_variant,,ENST00000609757,;ELAC2,upstream_gene_variant,,ENST00000581499,;ELAC2,upstream_gene_variant,,ENST00000609345,;ELAC2,upstream_gene_variant,,ENST00000484122,;	203	30	29	SUCCESS
EPN2	22905	.	GRCh37	17	19186882	19186882	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	81	0	ENST00000314728.5:c.450C>G	p.Thr150=	p.T150=	ENST00000314728	NM_014964.4	150	acC/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS11203.1	450	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACCAAAGA	NONE	.	.	Gene3D:1.25.40.90,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF50	.	.	ENSP00000320543	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000314728	Transcript	.	.	ENSG00000072134	18639	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPN2_HUMAN	EPN2	HGNC	Q6NSL9_HUMAN,J3QRG9_HUMAN,J3QLN2_HUMAN,J3QKL8_HUMAN,J3KTF6_HUMAN,J3KSF8_HUMAN,J3KSC7_HUMAN,J3KSA6_HUMAN	.	UPI000013D197	SNV	EPN2,synonymous_variant,p.%3D,ENST00000571254,;EPN2,synonymous_variant,p.%3D,ENST00000395626,;EPN2,synonymous_variant,p.%3D,ENST00000395620,;EPN2,synonymous_variant,p.%3D,ENST00000395628,;EPN2,synonymous_variant,p.%3D,ENST00000314728,;EPN2,synonymous_variant,p.%3D,ENST00000347697,;EPN2,intron_variant,,ENST00000494192,;EPN2,intron_variant,,ENST00000575595,;EPN2,intron_variant,,ENST00000395618,;EPN2,downstream_gene_variant,,ENST00000581024,;EPN2,downstream_gene_variant,,ENST00000582015,;EPN2,downstream_gene_variant,,ENST00000583197,;EPN2,downstream_gene_variant,,ENST00000584150,;EPN2,downstream_gene_variant,,ENST00000577692,;EPN2,downstream_gene_variant,,ENST00000577195,;EPN2,downstream_gene_variant,,ENST00000584633,;EPN2,downstream_gene_variant,,ENST00000584707,;EPN2,downstream_gene_variant,,ENST00000582234,;EPN2,downstream_gene_variant,,ENST00000577244,;EPN2,downstream_gene_variant,,ENST00000582969,;EPN2,non_coding_transcript_exon_variant,,ENST00000495155,;EPN2,intron_variant,,ENST00000580579,;	934	81	87	SUCCESS
NF1	4763	.	GRCh37	17	29588781	29588781	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	199	78	180	0	ENST00000358273.4:c.4630G>A	p.Ala1544Thr	p.A1544T	ENST00000358273	NM_001042492.2	1544	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS42292.1	4630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGCATAC	NONE	.	.	Superfamily_domains:SSF48350,SMART_domains:SM00323,Gene3D:1.10.494.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	.	.	ENSP00000351015	.	35/58	.	.	.	.	.	.	.	.	.	35/58	PASS	ENST00000358273	Transcript	.	.	ENSG00000196712	7765	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.98)	.	deleterious(0)	.	NF1_HUMAN	NF1	HGNC	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN	.	UPI000012FFAE	SNV	NF1,missense_variant,p.Ala1189Thr,ENST00000456735,;NF1,missense_variant,p.Ala1544Thr,ENST00000358273,;NF1,missense_variant,p.Ala1523Thr,ENST00000356175,;NF1,missense_variant,p.Ala1557Thr,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000466819,;NF1,3_prime_UTR_variant,,ENST00000479614,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	5013	180	278	SUCCESS
SUZ12	23512	.	GRCh37	17	30321616	30321616	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1195143657	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	56	76	0	ENST00000322652.5:c.1471A>G	p.Ile491Val	p.I491V	ENST00000322652	NM_015355.2	491	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11270.1	1471	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTATCAAT	NONE	.	.	hmmpanther:PTHR22597	.	.	ENSP00000316578	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000322652	Transcript	.	.	ENSG00000178691	17101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	tolerated(0.1)	.	SUZ12_HUMAN	SUZ12	HGNC	.	.	UPI000006F727	SNV	SUZ12,missense_variant,p.Ile468Val,ENST00000580398,;SUZ12,missense_variant,p.Ile491Val,ENST00000322652,;SUZ12,non_coding_transcript_exon_variant,,ENST00000578106,;	1700	76	115	SUCCESS
PSMC5	5705	.	GRCh37	17	61908427	61908427	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	42	70	0	ENST00000310144.6:c.711G>A	p.Met237Ile	p.M237I	ENST00000310144	NM_002805.5	237	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS11645.1	711	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATGGCACG	NONE	.	.	hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF12,TIGRFAM_domain:TIGR01242,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000310572	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000310144	Transcript	.	.	ENSG00000087191	9552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.03)	.	PRS8_HUMAN	PSMC5	HGNC	J3QSA9_HUMAN,J3QLH6_HUMAN,J3KRP2_HUMAN	.	UPI00000219DE	SNV	PSMC5,missense_variant,p.Met229Ile,ENST00000581882,;PSMC5,missense_variant,p.Met229Ile,ENST00000375812,;PSMC5,missense_variant,p.Met229Ile,ENST00000585123,;PSMC5,missense_variant,p.Met237Ile,ENST00000310144,;PSMC5,missense_variant,p.Met229Ile,ENST00000580864,;PSMC5,missense_variant,p.Met229Ile,ENST00000584320,;PSMC5,missense_variant,p.Met218Ile,ENST00000582130,;SMARCD2,downstream_gene_variant,,ENST00000323347,;SMARCD2,downstream_gene_variant,,ENST00000448276,;PSMC5,downstream_gene_variant,,ENST00000579708,;SMARCD2,downstream_gene_variant,,ENST00000225742,;FTSJ3,upstream_gene_variant,,ENST00000580272,;FTSJ3,upstream_gene_variant,,ENST00000581209,;FTSJ3,upstream_gene_variant,,ENST00000585145,;SMARCD2,downstream_gene_variant,,ENST00000450364,;FTSJ3,upstream_gene_variant,,ENST00000427159,;FTSJ3,upstream_gene_variant,,ENST00000584574,;PSMC5,downstream_gene_variant,,ENST00000581842,;FTSJ3,upstream_gene_variant,,ENST00000580295,;PSMC5,downstream_gene_variant,,ENST00000582420,;PSMC5,missense_variant,p.Gly98Ser,ENST00000584880,;PSMC5,3_prime_UTR_variant,,ENST00000584536,;PSMC5,3_prime_UTR_variant,,ENST00000585242,;PSMC5,non_coding_transcript_exon_variant,,ENST00000578570,;PSMC5,non_coding_transcript_exon_variant,,ENST00000579031,;PSMC5,non_coding_transcript_exon_variant,,ENST00000581764,;PSMC5,non_coding_transcript_exon_variant,,ENST00000580063,;PSMC5,non_coding_transcript_exon_variant,,ENST00000579147,;SMARCD2,downstream_gene_variant,,ENST00000584483,;PSMC5,downstream_gene_variant,,ENST00000580265,;FTSJ3,upstream_gene_variant,,ENST00000579569,;FTSJ3,upstream_gene_variant,,ENST00000582476,;SMARCD2,downstream_gene_variant,,ENST00000584400,;FTSJ3,upstream_gene_variant,,ENST00000584193,;PSMC5,downstream_gene_variant,,ENST00000583283,;PSMC5,upstream_gene_variant,,ENST00000584657,;FTSJ3,upstream_gene_variant,,ENST00000577263,;SMARCD2,downstream_gene_variant,,ENST00000578234,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000581832,;FTSJ3,upstream_gene_variant,,ENST00000580290,;	1019	70	103	SUCCESS
C17orf49	124944	.	GRCh37	17	6920262	6920262	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs542866415	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	60	0	ENST00000439424.2:c.443C>A	p.Ala148Asp	p.A148D	ENST00000439424	NM_001142798.2	148	gCc/gAc	0	.	T:0	.	T:0	.	A	A/D	protein_coding	YES	CCDS45595.1	443	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATGCCAACA	NONE	by1000G	.	hmmpanther:PTHR21397	T:0.001	.	ENSP00000448598	T:0	5/6	.	.	.	.	.	.	.	.	rs542866415	5/6	PASS	ENST00000546495	Transcript	.	T:0.0002	ENSG00000258315	28737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.945)	T:0	deleterious(0.05)	.	BAP18_HUMAN	C17orf49	HGNC	F8W1H0_HUMAN	.	UPI0000494405	SNV	C17orf49,missense_variant,p.Ala148Asp,ENST00000546495,;RNASEK-C17orf49,missense_variant,p.Ala189Asp,ENST00000547302,;C17orf49,missense_variant,p.Ala114Asp,ENST00000552402,;C17orf49,missense_variant,p.Ala122Asp,ENST00000552775,;C17orf49,missense_variant,p.Ala148Asp,ENST00000439424,;C17orf49,intron_variant,,ENST00000546760,;RNASEK,downstream_gene_variant,,ENST00000570898,;RNASEK,downstream_gene_variant,,ENST00000552842,;AC027763.2,upstream_gene_variant,,ENST00000573939,;AC040977.1,upstream_gene_variant,,ENST00000593646,;RNASEK,downstream_gene_variant,,ENST00000402093,;AC027763.2,upstream_gene_variant,,ENST00000574377,;RNASEK,downstream_gene_variant,,ENST00000552321,;AC027763.2,upstream_gene_variant,,ENST00000399541,;RNASEK,downstream_gene_variant,,ENST00000548577,;AC027763.2,upstream_gene_variant,,ENST00000575889,;AC027763.2,upstream_gene_variant,,ENST00000399540,;AC027763.2,upstream_gene_variant,,ENST00000575727,;MIR497HG,downstream_gene_variant,,ENST00000385194,;MIR497HG,downstream_gene_variant,,ENST00000385056,;MIR497HG,non_coding_transcript_exon_variant,,ENST00000572453,;MIR497HG,intron_variant,,ENST00000443997,;RP11-589P10.7,intron_variant,,ENST00000572547,;C17orf49,splice_region_variant,,ENST00000550038,;C17orf49,intron_variant,,ENST00000547709,;C17orf49,3_prime_UTR_variant,,ENST00000547747,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000549775,;C17orf49,non_coding_transcript_exon_variant,,ENST00000549857,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000547863,;RNASEK,downstream_gene_variant,,ENST00000549393,;RNASEK,downstream_gene_variant,,ENST00000546395,;AC027763.2,upstream_gene_variant,,ENST00000571010,;RNASEK,downstream_gene_variant,,ENST00000552176,;RNASEK,downstream_gene_variant,,ENST00000552039,;RNASEK,downstream_gene_variant,,ENST00000575822,;AC027763.2,upstream_gene_variant,,ENST00000570562,;AC027763.2,upstream_gene_variant,,ENST00000572385,;RNASEK-C17orf49,downstream_gene_variant,,ENST00000607564,;	806	60	59	SUCCESS
SETBP1	26040	.	GRCh37	18	42532830	42532830	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	81	0	ENST00000282030.5:c.3525A>G	p.Ala1175=	p.A1175=	ENST00000282030	NM_015559.2	1175	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS11923.2	3525	MUTECT|MUSE	.	TTTGCAGGCAA	NONE	.	.	hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	.	.	ENSP00000282030	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000282030	Transcript	.	.	ENSG00000152217	15573	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SETBP_HUMAN	SETBP1	HGNC	K7ES17_HUMAN	.	UPI0000201C54	SNV	SETBP1,synonymous_variant,p.%3D,ENST00000282030,;	3821	81	79	SUCCESS
SMAD7	4092	.	GRCh37	18	46476705	46476705	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	57	0	ENST00000262158.2:c.90A>G	p.Gly30=	p.G30=	ENST00000262158	NM_001190821.1	30	ggA/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11936.1	90	MUTECT|MUSE	.	CCACCTCCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27	.	.	ENSP00000262158	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000262158	Transcript	.	.	ENSG00000101665	6773	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMAD7_HUMAN	SMAD7	HGNC	K7EKF0_HUMAN	.	UPI0000135A83	SNV	SMAD7,synonymous_variant,p.%3D,ENST00000262158,;SMAD7,synonymous_variant,p.%3D,ENST00000589634,;SMAD7,upstream_gene_variant,,ENST00000591805,;SMAD7,upstream_gene_variant,,ENST00000586093,;	377	57	44	SUCCESS
EEF2	1938	.	GRCh37	19	3980917	3980917	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	37	0	ENST00000309311.6:c.1072C>G	p.Leu358Val	p.L358V	ENST00000309311	NM_001961.3	358	Ctg/Gtg	0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS12117.1	1072	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGGTGGA	NONE	.	.	hmmpanther:PTHR23115:SF103,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Superfamily_domains:SSF52540	.	.	ENSP00000307940	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000309311	Transcript	1	.	ENSG00000167658	3214	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	EF2_HUMAN	EEF2	HGNC	Q8TA90_HUMAN,B4DMC6_HUMAN	.	UPI00001649F3	SNV	EEF2,missense_variant,p.Leu358Val,ENST00000309311,;EEF2,upstream_gene_variant,,ENST00000600794,;SNORD37,downstream_gene_variant,,ENST00000384048,;EEF2,downstream_gene_variant,,ENST00000600720,;EEF2,non_coding_transcript_exon_variant,,ENST00000598182,;EEF2,downstream_gene_variant,,ENST00000598436,;EEF2,upstream_gene_variant,,ENST00000596417,;EEF2,downstream_gene_variant,,ENST00000594885,;	1161	37	58	SUCCESS
PRKD2	25865	.	GRCh37	19	47219608	47219608	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	20	103	0	ENST00000291281.4:c.20A>T	p.Tyr7Phe	p.Y7F	ENST00000291281		7	tAt/tTt	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS12689.1	20	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGATAAGAG	NONE	.	.	PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968,Low_complexity_(Seg):seg	.	.	ENSP00000393978	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000433867	Transcript	.	.	ENSG00000105287	17293	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated_low_confidence(0.47)	.	KPCD2_HUMAN	PRKD2	HGNC	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN	.	UPI000013E03A	SNV	PRKD2,missense_variant,p.Tyr7Phe,ENST00000595515,;PRKD2,missense_variant,p.Tyr7Phe,ENST00000593363,;PRKD2,missense_variant,p.Tyr7Phe,ENST00000433867,;PRKD2,missense_variant,p.Tyr7Phe,ENST00000291281,;PRKD2,intron_variant,,ENST00000598633,;PRKD2,intron_variant,,ENST00000601806,;STRN4,downstream_gene_variant,,ENST00000600615,;STRN4,downstream_gene_variant,,ENST00000539396,;PRKD2,upstream_gene_variant,,ENST00000600194,;STRN4,downstream_gene_variant,,ENST00000263280,;PRKD2,upstream_gene_variant,,ENST00000595132,;PRKD2,upstream_gene_variant,,ENST00000601605,;STRN4,downstream_gene_variant,,ENST00000391910,;STRN4,downstream_gene_variant,,ENST00000595357,;PRKD2,upstream_gene_variant,,ENST00000597088,;PRKD2,upstream_gene_variant,,ENST00000597641,;STRN4,downstream_gene_variant,,ENST00000601869,;STRN4,downstream_gene_variant,,ENST00000594581,;	498	104	109	SUCCESS
ARHGEF18	23370	.	GRCh37	19	7528790	7528790	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	200	10	190	0	ENST00000359920.6:c.2158A>C	p.Arg720=	p.R720=	ENST00000359920	NM_001130955.1	720	Agg/Cgg	0	.	.	.	.	.	C	R	protein_coding	YES	CCDS45946.1	2158	MUTECT|MUSE	.	CGCCCAGGAGG	NONE	.	.	hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF9	.	.	ENSP00000352995	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000359920	Transcript	.	.	ENSG00000104880	17090	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHGI_HUMAN	ARHGEF18	HGNC	M0R125_HUMAN	.	UPI0000D6170D	SNV	ARHGEF18,synonymous_variant,p.%3D,ENST00000359920,;ARHGEF18,synonymous_variant,p.%3D,ENST00000594665,;ARHGEF18,synonymous_variant,p.%3D,ENST00000319670,;CTD-2207O23.3,synonymous_variant,p.%3D,ENST00000593531,;	2411	190	210	SUCCESS
MUC16	94025	.	GRCh37	19	9075042	9075042	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	121	5	143	0	ENST00000397910.4:c.12404C>G	p.Thr4135Ser	p.T4135S	ENST00000397910	NM_024690.2	4135	aCc/aGc	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS54212.1	12404	MUTECT|MUSE	.	GAGTGGTCTTC	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Thr4135Ser,ENST00000397910,;	12608	143	126	SUCCESS
AGTRAP	57085	.	GRCh37	1	11808647	11808647	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141868096	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	29	0	ENST00000314340.5:c.344G>T	p.Gly115Val	p.G115V	ENST00000314340	NM_020350.4	115	gGt/gTt	0	A:0.0002	.	.	.	.	T	G/V	protein_coding	YES	CCDS136.1	344	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGGGTGAGC	NONE	byCluster	.	hmmpanther:PTHR16521:SF2,hmmpanther:PTHR16521,Pfam_domain:PF06396,SMART_domains:SM00805	.	A:0	ENSP00000319713	.	4/5	.	.	.	.	.	.	.	.	rs141868096	4/5	PASS	ENST00000314340	Transcript	.	.	ENSG00000177674	13539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	ATRAP_HUMAN	AGTRAP	HGNC	.	.	UPI00001574DC	SNV	AGTRAP,splice_donor_variant,,ENST00000376637,;AGTRAP,splice_donor_variant,,ENST00000376629,;AGTRAP,splice_donor_variant,,ENST00000452018,;AGTRAP,missense_variant,p.Val80Leu,ENST00000510878,;AGTRAP,missense_variant,p.Gly115Val,ENST00000314340,;AGTRAP,synonymous_variant,p.%3D,ENST00000376627,;AGTRAP,synonymous_variant,p.%3D,ENST00000400895,;AGTRAP,splice_donor_variant,,ENST00000476309,;AGTRAP,splice_donor_variant,,ENST00000491346,;AGTRAP,non_coding_transcript_exon_variant,,ENST00000471765,;AGTRAP,downstream_gene_variant,,ENST00000494437,;AGTRAP,splice_donor_variant,,ENST00000514733,;AGTRAP,3_prime_UTR_variant,,ENST00000476512,;AGTRAP,non_coding_transcript_exon_variant,,ENST00000513739,;	398	29	24	SUCCESS
BNIPL	149428	.	GRCh37	1	151016188	151016188	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs148749865	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	32	92	0	ENST00000368931.3:c.836G>C	p.Arg279Pro	p.R279P	ENST00000368931	NM_138278.3	279	cGt/cCt	0	.	A:0	.	A:0	.	C	R/P	protein_coding	YES	CCDS978.2	836	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCGTACCC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:SSF52087,SMART_domains:SM00516,Gene3D:3.40.525.10,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF13,Pfam_domain:PF13716,PROSITE_profiles:PS50191	A:0.002	.	ENSP00000357927	A:0	7/10	.	.	.	.	.	.	.	.	rs148749865	7/10	PASS	ENST00000368931	Transcript	.	A:0.0004	ENSG00000163141	16976	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.042)	A:0	deleterious(0.01)	.	BNIPL_HUMAN	BNIPL	HGNC	F8W685_HUMAN	.	UPI00001B94EF	SNV	BNIPL,missense_variant,p.Arg279Pro,ENST00000368931,;BNIPL,missense_variant,p.Arg197Pro,ENST00000295294,;BNIPL,missense_variant,p.Arg263Pro,ENST00000361277,;BNIPL,downstream_gene_variant,,ENST00000392802,;C1orf56,upstream_gene_variant,,ENST00000368926,;BNIPL,upstream_gene_variant,,ENST00000491386,;C1orf56,upstream_gene_variant,,ENST00000465135,;C1orf56,upstream_gene_variant,,ENST00000473308,;BNIPL,missense_variant,p.Arg197Pro,ENST00000485855,;	992	92	174	SUCCESS
ADCY10	55811	.	GRCh37	1	167825481	167825481	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1455092977	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	251	12	177	0	ENST00000367851.4:c.2093G>A	p.Gly698Asp	p.G698D	ENST00000367851	NM_018417.4	698	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS1265.1	2093	MUTECT|MUSE	.	CTGCACCAATG	NONE	.	.	hmmpanther:PTHR16305:SF23,hmmpanther:PTHR16305,Gene3D:3.40.50.300,PIRSF_domain:PIRSF011131	.	.	ENSP00000356825	.	17/33	.	.	.	.	.	.	.	.	.	17/33	PASS	ENST00000367851	Transcript	.	.	ENSG00000143199	21285	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.98)	.	tolerated(0.05)	.	ADCYA_HUMAN	ADCY10	HGNC	.	.	UPI0000204D00	SNV	ADCY10,missense_variant,p.Gly545Asp,ENST00000545172,;ADCY10,missense_variant,p.Gly698Asp,ENST00000367851,;ADCY10,missense_variant,p.Gly606Asp,ENST00000367848,;	2278	177	263	SUCCESS
ZNF648	127665	.	GRCh37	1	182026606	182026606	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	71	0	ENST00000339948.3:c.540A>G	p.Val180=	p.V180=	ENST00000339948	NM_001009992.1	180	gtA/gtG	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS30952.1	540	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTCTACACT	NONE	.	.	hmmpanther:PTHR24376:SF1,hmmpanther:PTHR24376	.	.	ENSP00000344129	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339948	Transcript	.	.	ENSG00000179930	18190	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN648_HUMAN	ZNF648	HGNC	.	.	UPI0000161414	SNV	ZNF648,synonymous_variant,p.%3D,ENST00000339948,;	748	71	79	SUCCESS
HSPG2	3339	.	GRCh37	1	22156669	22156669	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	58	0	ENST00000374695.3:c.11672-85G>T		p.*3891*	ENST00000374695	NM_005529.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30625.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCACACCCCGG	NONE	.	.	.	.	.	ENSP00000363827	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODIFIER	85/96	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,intron_variant,,ENST00000374695,;LDLRAD2,downstream_gene_variant,,ENST00000344642,;HSPG2,downstream_gene_variant,,ENST00000426143,;HSPG2,non_coding_transcript_exon_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000471322,;HSPG2,downstream_gene_variant,,ENST00000469378,;	.	58	36	SUCCESS
TMEM39B	55116	.	GRCh37	1	32566142	32566142	+	synonymous_variant	Silent	SNP	C	C	T	rs373923538	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	8	106	0	ENST00000336294.5:c.1215C>T	p.Asp405=	p.D405=	ENST00000336294	NM_018056.2	405	gaC/gaT	0	T:0	.	.	.	.	T	D	protein_coding	YES	CCDS351.2	1215	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACGTCTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF2,Pfam_domain:PF10271	.	T:0.0001	ENSP00000338165	.	8/9	.	.	.	.	.	.	.	.	rs373923538	8/9	PASS	ENST00000336294	Transcript	.	.	ENSG00000121775	25510	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM39B_HUMAN	TMEM39B	HGNC	Q9NW51_HUMAN,Q9BT39_HUMAN,B4DQE6_HUMAN	.	UPI0000037B9F	SNV	TMEM39B,synonymous_variant,p.%3D,ENST00000373634,;TMEM39B,synonymous_variant,p.%3D,ENST00000427288,;TMEM39B,synonymous_variant,p.%3D,ENST00000336294,;TMEM39B,3_prime_UTR_variant,,ENST00000456834,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,3_prime_UTR_variant,,ENST00000441402,;	1361	106	79	SUCCESS
INADL	0	.	GRCh37	1	62299331	62299331	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	34	154	0	ENST00000371158.2:c.1986C>T	p.Asp662=	p.D662=	ENST00000371158	NM_176877.2	662	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS617.2	1986	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGACCACAA	NONE	.	.	hmmpanther:PTHR19964:SF11,hmmpanther:PTHR19964	.	.	ENSP00000360200	.	17/43	.	.	.	.	.	.	.	.	.	17/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,synonymous_variant,p.%3D,ENST00000316485,;INADL,synonymous_variant,p.%3D,ENST00000371158,;INADL,synonymous_variant,p.%3D,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;	2100	154	177	SUCCESS
MYT1	4661	.	GRCh37	20	62843408	62843408	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	29	0	ENST00000328439.1:c.1434C>T	p.Ala478=	p.A478=	ENST00000328439	NM_004535.2	478	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS13558.1	1434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCCATGCA	NONE	.	.	Superfamily_domains:0042508,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10	.	.	ENSP00000327465	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000328439	Transcript	.	.	ENSG00000196132	7622	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYT1_HUMAN	MYT1	HGNC	.	.	UPI000012FBFA	SNV	MYT1,synonymous_variant,p.%3D,ENST00000536311,;MYT1,synonymous_variant,p.%3D,ENST00000360149,;MYT1,synonymous_variant,p.%3D,ENST00000328439,;	1798	29	24	SUCCESS
CRKL	1399	.	GRCh37	22	21272198	21272198	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs765714568	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	66	0	ENST00000354336.3:c.-25G>T		p.*9*	ENST00000354336	NM_005207.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13785.1	.	MUTECT|MUSE	.	CTACCGCCGCA	NONE	.	.	.	.	.	ENSP00000346300	.	1/3	.	.	.	.	.	.	.	.	rs765714568	1/3	PASS	ENST00000354336	Transcript	.	.	ENSG00000099942	2363	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRKL_HUMAN	CRKL	HGNC	.	.	UPI000000DA57	SNV	CRKL,5_prime_UTR_variant,,ENST00000354336,;CRKL,5_prime_UTR_variant,,ENST00000411769,;	485	66	54	SUCCESS
P2RX6P	440799	.	GRCh37	22	21398501	21398501	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	rs757830503	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	60	119	0	ENST00000439119.1:n.139G>C		p.*47*	ENST00000439119				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAGTCACGGA	NONE	.	1748	.	.	.	ENSP00000341179	.	.	.	.	.	.	.	.	.	.	rs757830503	.	PASS	ENST00000342608	Transcript	.	.	ENSG00000187905	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YV012_HUMAN	AC002472.13	Clone_based_vega_gene	.	.	UPI0001642928	SNV	AC002472.13,upstream_gene_variant,,ENST00000543388,;AC002472.13,upstream_gene_variant,,ENST00000442047,;AC002472.13,upstream_gene_variant,,ENST00000342608,;AC002472.11,downstream_gene_variant,,ENST00000450652,;P2RX6P,non_coding_transcript_exon_variant,,ENST00000439119,;AC002472.13,upstream_gene_variant,,ENST00000473769,;AC002472.13,upstream_gene_variant,,ENST00000497328,;P2RX6P,non_coding_transcript_exon_variant,,ENST00000450626,;P2RX6P,non_coding_transcript_exon_variant,,ENST00000382931,;	.	119	149	SUCCESS
PLA2G6	8398	.	GRCh37	22	38525570	38525570	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	.	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	29	119	0	ENST00000332509.3:c.1078-1G>C		p.X360_splice	ENST00000332509	NM_003560.2	360		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13967.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCTGTTG	NONE	.	.	.	.	.	ENSP00000333142	.	.	.	.	.	.	.	.	.	.	COSM3390227	.	PASS	ENST00000332509	Transcript	.	.	ENSG00000184381	9039	.	.	HIGH	7/16	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	PLPL9_HUMAN	PLA2G6	HGNC	M0R3D9_HUMAN,M0R1Q9_HUMAN,F8WEQ9_HUMAN	.	UPI00001310F3	SNV	PLA2G6,splice_acceptor_variant,,ENST00000335539,;PLA2G6,splice_acceptor_variant,,ENST00000402064,;PLA2G6,splice_acceptor_variant,,ENST00000427453,;PLA2G6,splice_acceptor_variant,,ENST00000427114,;PLA2G6,splice_acceptor_variant,,ENST00000452542,;PLA2G6,splice_acceptor_variant,,ENST00000332509,;PLA2G6,splice_acceptor_variant,,ENST00000452794,;PLA2G6,upstream_gene_variant,,ENST00000490473,;PLA2G6,splice_acceptor_variant,,ENST00000448094,;PLA2G6,intron_variant,,ENST00000471636,;PLA2G6,upstream_gene_variant,,ENST00000480154,;PLA2G6,upstream_gene_variant,,ENST00000491986,;PLA2G6,upstream_gene_variant,,ENST00000454670,;	.	119	108	SUCCESS
CACNA1I	8911	.	GRCh37	22	40080333	40080333	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	71	0	ENST00000402142.3:c.5857G>A	p.Ala1953Thr	p.A1953T	ENST00000402142	NM_021096.3	1953	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS46710.1	5857	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGATGCCTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037	.	.	ENSP00000385019	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000402142	Transcript	.	.	ENSG00000100346	1396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.483)	.	tolerated(0.31)	.	CAC1I_HUMAN	CACNA1I	HGNC	.	.	UPI000012727D	SNV	CACNA1I,missense_variant,p.Ala1953Thr,ENST00000401624,;CACNA1I,missense_variant,p.Ala1918Thr,ENST00000407673,;CACNA1I,missense_variant,p.Ala1953Thr,ENST00000402142,;CACNA1I,missense_variant,p.Ala1918Thr,ENST00000400164,;CACNA1I,missense_variant,p.Ala1959Thr,ENST00000336649,;CACNA1I,missense_variant,p.Ala1918Thr,ENST00000404898,;	5857	71	74	SUCCESS
RGPD4	285190	.	GRCh37	2	108453116	108453116	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	68	269	0	ENST00000408999.3:c.131T>C	p.Leu44Pro	p.L44P	ENST00000408999	NM_182588.2	44	cTt/cCt	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS46381.1	131	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATCTTGCTA	NONE	.	.	PROSITE_profiles:PS50293,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	.	.	ENSP00000386810	.	2/23	.	.	.	.	.	.	.	.	.	2/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	deleterious(0.01)	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,missense_variant,p.Leu44Pro,ENST00000408999,;RGPD4,missense_variant,p.Leu44Pro,ENST00000354986,;	208	269	231	SUCCESS
GREB1	9687	.	GRCh37	2	11733194	11733194	+	synonymous_variant	Silent	SNP	C	C	T	rs771758437	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	5	116	0	ENST00000234142.5:c.1638C>T	p.Tyr546=	p.Y546=	ENST00000234142		546	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS42655.1	1638	MUTECT|MUSE	.	AACTACGTGGT	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	11/33	.	.	.	.	.	.	.	.	rs771758437	11/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,synonymous_variant,p.%3D,ENST00000234142,;GREB1,synonymous_variant,p.%3D,ENST00000432985,;GREB1,synonymous_variant,p.%3D,ENST00000381486,;GREB1,downstream_gene_variant,,ENST00000263834,;GREB1,downstream_gene_variant,,ENST00000381483,;	1938	116	127	SUCCESS
PPIG	9360	.	GRCh37	2	170471112	170471112	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	260	126	403	0	ENST00000260970.3:c.425G>A	p.Gly142Glu	p.G142E	ENST00000260970	NM_004792.2	142	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS2235.1	425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGACAAG	NONE	.	.	PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF56,Pfam_domain:PF00160,Gene3D:2.40.100.10,Superfamily_domains:SSF50891,Prints_domain:PR00153	.	.	ENSP00000260970	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000260970	Transcript	.	.	ENSG00000138398	14650	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	PPIG_HUMAN	PPIG	HGNC	C9JT64_HUMAN,C9JN15_HUMAN	.	UPI000013D124	SNV	PPIG,missense_variant,p.Gly127Glu,ENST00000409714,;PPIG,missense_variant,p.Gly142Glu,ENST00000414307,;PPIG,missense_variant,p.Gly142Glu,ENST00000260970,;PPIG,missense_variant,p.Gly142Glu,ENST00000462903,;PPIG,missense_variant,p.Gly138Glu,ENST00000433207,;PPIG,missense_variant,p.Gly142Glu,ENST00000448752,;PPIG,intron_variant,,ENST00000530152,;PPIG,3_prime_UTR_variant,,ENST00000417938,;	645	404	386	SUCCESS
SP9	100131390	.	GRCh37	2	175201534	175201534	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs868553973	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	19	0	ENST00000394967.2:c.721G>T	p.Ala241Ser	p.A241S	ENST00000394967	NM_001145250.1	241	Gcc/Tcc	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS46453.1	721	RADIA|MUSE|VARSCANS	.	CCTCCGCCGCC	NONE	.	.	hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF152,Low_complexity_(Seg):seg	.	.	ENSP00000378418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394967	Transcript	.	.	ENSG00000217236	30690	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.515)	.	tolerated(0.52)	.	SP9_HUMAN	SP9	HGNC	.	.	UPI0000EE2E67	SNV	SP9,missense_variant,p.Ala241Ser,ENST00000394967,;AC018470.1,synonymous_variant,p.%3D,ENST00000595354,;	868	19	37	SUCCESS
KIF1A	547	.	GRCh37	2	241700204	241700204	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780908328	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	170	99	255	0	ENST00000320389.7:c.2295C>A	p.Asp765Glu	p.D765E	ENST00000320389	NM_004321.6	765	gaC/gaA	0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS58757.1	2322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGTCGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24115:SF361,hmmpanther:PTHR24115	.	.	ENSP00000438388	.	25/50	.	.	.	.	.	.	.	.	rs780908328	25/50	PASS	ENST00000498729	Transcript	.	.	ENSG00000130294	888	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated(0.63)	.	KIF1A_HUMAN	KIF1A	HGNC	G1UI30_HUMAN,C9JBH1_HUMAN	.	UPI0002065B81	SNV	KIF1A,missense_variant,p.Asp774Glu,ENST00000498729,;KIF1A,missense_variant,p.Asp765Glu,ENST00000320389,;KIF1A,missense_variant,p.Asp774Glu,ENST00000404283,;	2569	256	269	SUCCESS
PHC3	80012	.	GRCh37	3	169889099	169889099	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	62	0	ENST00000494943.1:c.378+62A>C		p.*126*	ENST00000494943				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46952.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTTTACTTT	NONE	.	.	.	.	.	ENSP00000420294	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000495893	Transcript	.	.	ENSG00000173889	15682	.	.	MODIFIER	4/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHC3_HUMAN	PHC3	HGNC	C9JYH7_HUMAN	.	UPI00004DF1A6	SNV	PHC3,3_prime_UTR_variant,,ENST00000497658,;PHC3,3_prime_UTR_variant,,ENST00000481639,;PHC3,intron_variant,,ENST00000465896,;PHC3,intron_variant,,ENST00000474275,;PHC3,intron_variant,,ENST00000484931,;PHC3,intron_variant,,ENST00000495893,;PHC3,intron_variant,,ENST00000494943,;PHC3,intron_variant,,ENST00000467570,;PHC3,intron_variant,,ENST00000466189,;PHC3,intron_variant,,ENST00000475729,;PHC3,non_coding_transcript_exon_variant,,ENST00000491258,;PHC3,non_coding_transcript_exon_variant,,ENST00000490723,;PHC3,intron_variant,,ENST00000479467,;PHC3,intron_variant,,ENST00000472330,;	.	62	61	SUCCESS
SLC6A20	54716	.	GRCh37	3	45814090	45814090	+	synonymous_variant	Silent	SNP	C	C	T	rs780083357	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	67	0	ENST00000358525.4:c.600G>A	p.Ala200=	p.A200=	ENST00000358525	NM_020208.3	200	gcG/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43077.1	600	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGACGCCGT	SITE|p.A200A|c.600G>A|3	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF44,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	.	.	ENSP00000346298	.	5/11	.	.	.	.	.	.	.	.	rs780083357,COSM1423328	5/11	PASS	ENST00000358525	Transcript	.	.	ENSG00000163817	30927	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	S6A20_HUMAN	SLC6A20	HGNC	.	.	UPI0000046064	SNV	SLC6A20,synonymous_variant,p.%3D,ENST00000456124,;SLC6A20,synonymous_variant,p.%3D,ENST00000358525,;SLC6A20,synonymous_variant,p.%3D,ENST00000413781,;SLC6A20,intron_variant,,ENST00000353278,;SLC6A20,upstream_gene_variant,,ENST00000473146,;	716	67	55	SUCCESS
MTTP	4547	.	GRCh37	4	100495974	100495974	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	15	38	0	ENST00000265517.5:c.-93G>C		p.*31*	ENST00000265517				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3651.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAAGAGGGT	NONE	.	.	.	.	.	ENSP00000400821	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000457717	Transcript	1	.	ENSG00000138823	7467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTP_HUMAN	MTTP	HGNC	.	.	UPI000012F826	SNV	MTTP,5_prime_UTR_variant,,ENST00000457717,;MTTP,5_prime_UTR_variant,,ENST00000265517,;MTTP,intron_variant,,ENST00000511045,;MTTP,intron_variant,,ENST00000506883,;MTTP,upstream_gene_variant,,ENST00000422897,;MTTP,missense_variant,p.Glu34Gln,ENST00000513404,;MTTP,missense_variant,p.Glu51Gln,ENST00000515141,;MTTP,3_prime_UTR_variant,,ENST00000504724,;MTTP,3_prime_UTR_variant,,ENST00000505142,;MTTP,3_prime_UTR_variant,,ENST00000511610,;MTTP,intron_variant,,ENST00000505094,;	164	38	47	SUCCESS
TRPC3	7222	.	GRCh37	4	122833233	122833233	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1382442696	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	65	0	ENST00000379645.3:c.1357C>T	p.Arg453Ter	p.R453*	ENST00000379645	NM_001130698.1	453	Cga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS47130.1	1357	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGCAGAA	NONE	.	.	hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870	.	.	ENSP00000368966	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000379645	Transcript	.	.	ENSG00000138741	12335	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC3_HUMAN	TRPC3	HGNC	Q4W5P7_HUMAN,D6R902_HUMAN	.	UPI00004C6F61	SNV	TRPC3,stop_gained,p.Arg380Ter,ENST00000264811,;TRPC3,stop_gained,p.Arg325Ter,ENST00000513531,;TRPC3,stop_gained,p.Arg453Ter,ENST00000379645,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	1431	65	50	SUCCESS
HTT	3064	.	GRCh37	4	3148618	3148618	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs766323111	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	88	0	ENST00000355072.5:c.3238C>A	p.Pro1080Thr	p.P1080T	ENST00000355072	NM_002111.6	1080	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS43206.1	3238	MUTECT|MUSE	.	GGTTCCCATTG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170,Superfamily_domains:SSF48371	.	.	ENSP00000347184	.	25/67	.	.	.	.	.	.	.	.	rs766323111	25/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.325)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Pro1080Thr,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	3383	88	115	SUCCESS
CATSPER3	347732	.	GRCh37	5	134343827	134343827	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	8	93	0	ENST00000282611.6:c.673A>T	p.Thr225Ser	p.T225S	ENST00000282611	NM_178019.2	225	Acg/Tcg	0	.	.	.	.	.	T	T/S	protein_coding	YES	CCDS4181.1	673	MUTECT|MUSE	.	TGGCCACGGTA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF197,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000282611	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000282611	Transcript	.	.	ENSG00000152705	20819	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	CTSR3_HUMAN	CATSPER3	HGNC	.	.	UPI0000034D60	SNV	CATSPER3,missense_variant,p.Thr225Ser,ENST00000282611,;PCBD2,downstream_gene_variant,,ENST00000504352,;	759	93	124	SUCCESS
GFRA3	2676	.	GRCh37	5	137589591	137589591	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	7	189	0	ENST00000274721.3:c.890-2A>G		p.X297_splice	ENST00000274721	NM_001496.3	297		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4201.1	.	MUTECT|MUSE	.	GTCCCTGTGAA	NONE	.	.	.	.	.	ENSP00000274721	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000274721	Transcript	.	.	ENSG00000146013	4245	.	.	HIGH	5/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GFRA3_HUMAN	GFRA3	HGNC	.	.	UPI0000030833	SNV	GFRA3,splice_acceptor_variant,,ENST00000378362,;GFRA3,splice_acceptor_variant,,ENST00000274721,;	.	190	219	SUCCESS
PCDHA4	56144	.	GRCh37	5	140188506	140188506	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	71	0	ENST00000530339.1:c.1734C>T	p.Ser578=	p.S578=	ENST00000530339	NM_018907.2	578	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS54916.1	1734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGCGAGCT	NONE	.	.	hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	.	.	ENSP00000435300	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000530339	Transcript	.	.	ENSG00000204967	8670	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDA4_HUMAN	PCDHA4	HGNC	.	.	UPI00001273CC	SNV	PCDHA4,synonymous_variant,p.%3D,ENST00000356878,;PCDHA4,synonymous_variant,p.%3D,ENST00000530339,;PCDHA4,synonymous_variant,p.%3D,ENST00000512229,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA2,downstream_gene_variant,,ENST00000520672,;	1734	71	61	SUCCESS
GRIA1	2890	.	GRCh37	5	153190694	153190694	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	61	214	0	ENST00000285900.5:c.2630G>A	p.Arg877Gln	p.R877Q	ENST00000285900	NM_000827.3	877	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS58987.1	2660	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCGGGTGG	NONE	.	.	hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	16/16	.	.	.	.	.	.	.	.	COSM3245408,COSM3245409	16/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.612)	.	deleterious_low_confidence(0)	1,1	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Arg797Gln,ENST00000518142,;GRIA1,missense_variant,p.Arg887Gln,ENST00000518783,;GRIA1,missense_variant,p.Arg808Gln,ENST00000521843,;GRIA1,missense_variant,p.Arg877Gln,ENST00000285900,;GRIA1,missense_variant,p.Arg887Gln,ENST00000448073,;GRIA1,missense_variant,p.Arg877Gln,ENST00000340592,;	2687	214	237	SUCCESS
CDH9	1007	.	GRCh37	5	26915756	26915756	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1276119336	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	69	90	0	ENST00000231021.4:c.505C>T	p.Pro169Ser	p.P169S	ENST00000231021	NM_016279.3	169	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS3893.1	505	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAGGAACAC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	.	.	ENSP00000231021	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000231021	Transcript	.	.	ENSG00000113100	1768	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.415)	.	deleterious(0.01)	.	CADH9_HUMAN	CDH9	HGNC	E7EPN0_HUMAN,D6RBT9_HUMAN	.	UPI000013C945	SNV	CDH9,missense_variant,p.Pro169Ser,ENST00000231021,;CDH9,downstream_gene_variant,,ENST00000511822,;CDH9,downstream_gene_variant,,ENST00000513289,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	678	90	147	SUCCESS
FUCA2	2519	.	GRCh37	6	143823511	143823511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	36	106	0	ENST00000002165.6:c.944C>T	p.Thr315Ile	p.T315I	ENST00000002165	NM_032020.4	315	aCa/aTa	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS5200.1	944	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATTGTAAGA	NONE	.	.	hmmpanther:PTHR10030,hmmpanther:PTHR10030:SF24,Pfam_domain:PF01120,Gene3D:3.20.20.80,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Superfamily_domains:SSF51445	.	.	ENSP00000002165	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000002165	Transcript	.	.	ENSG00000001036	4008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0)	.	FUCO2_HUMAN	FUCA2	HGNC	.	.	UPI0000073C10	SNV	FUCA2,missense_variant,p.Thr315Ile,ENST00000002165,;FUCA2,intron_variant,,ENST00000438118,;FUCA2,upstream_gene_variant,,ENST00000451668,;RP1-20N2.6,intron_variant,,ENST00000610068,;RP1-20N2.6,intron_variant,,ENST00000591892,;RP1-20N2.6,intron_variant,,ENST00000589563,;RP1-20N2.6,upstream_gene_variant,,ENST00000593175,;RP1-20N2.6,upstream_gene_variant,,ENST00000593045,;RP1-20N2.6,upstream_gene_variant,,ENST00000591189,;RP1-20N2.6,upstream_gene_variant,,ENST00000590703,;RP1-20N2.6,upstream_gene_variant,,ENST00000415586,;RP1-20N2.6,upstream_gene_variant,,ENST00000589489,;FUCA2,intron_variant,,ENST00000367585,;	1000	106	106	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33412344	33412344	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	26	87	0	ENST00000418600.2:c.3532T>C	p.Tyr1178His	p.Y1178H	ENST00000418600	NM_006772.2	1178	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS34434.2	3532	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGTACAAG	NONE	.	.	hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Pfam_domain:PF12004	.	.	ENSP00000403636	.	16/19	.	.	.	.	.	.	.	.	.	16/19	PASS	ENST00000418600	Transcript	.	.	ENSG00000197283	11497	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.97)	.	tolerated(0.36)	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,missense_variant,p.Tyr1119His,ENST00000428982,;SYNGAP1,missense_variant,p.Tyr1178His,ENST00000418600,;SYNGAP1,missense_variant,p.Tyr1178His,ENST00000293748,;SYNGAP1,missense_variant,p.Tyr1164His,ENST00000449372,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000486399,;SYNGAP1,downstream_gene_variant,,ENST00000495633,;SYNGAP1,upstream_gene_variant,,ENST00000470232,;	3633	87	94	SUCCESS
SNAP91	9892	.	GRCh37	6	84303250	84303250	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	126	0	ENST00000369694.2:c.1643C>T	p.Thr548Ile	p.T548I	ENST00000369694	NM_001242792.1	548	aCc/aTc	0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS47455.1	1643	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGTGGTA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	.	.	ENSP00000400459	.	18/30	.	.	.	.	.	.	.	.	.	18/30	PASS	ENST00000439399	Transcript	.	.	ENSG00000065609	14986	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.19)	.	AP180_HUMAN	SNAP91	HGNC	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN	.	UPI0000124FB3	SNV	SNAP91,missense_variant,p.Thr548Ile,ENST00000439399,;SNAP91,missense_variant,p.Thr548Ile,ENST00000195649,;SNAP91,missense_variant,p.Thr548Ile,ENST00000521485,;SNAP91,missense_variant,p.Thr546Ile,ENST00000520302,;SNAP91,missense_variant,p.Thr548Ile,ENST00000428679,;SNAP91,missense_variant,p.Thr548Ile,ENST00000369694,;SNAP91,missense_variant,p.Thr548Ile,ENST00000521743,;SNAP91,intron_variant,,ENST00000521931,;SNAP91,intron_variant,,ENST00000437520,;SNAP91,intron_variant,,ENST00000520213,;SNAP91,upstream_gene_variant,,ENST00000523448,;SNAP91,downstream_gene_variant,,ENST00000369691,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,downstream_gene_variant,,ENST00000523780,;	1960	126	128	SUCCESS
TSGA13	114960	.	GRCh37	7	130356523	130356523	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	36	85	0	ENST00000356588.3:c.636T>C	p.His212=	p.H212=	ENST00000356588	NM_052933.2	212	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS5824.1	636	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCATGGAC	NONE	.	.	Pfam_domain:PF14994	.	.	ENSP00000406047	.	8/9	.	.	.	.	.	.	.	.	.	8/9	PASS	ENST00000456951	Transcript	.	.	ENSG00000213265	12369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSG13_HUMAN	TSGA13	HGNC	C9JVS7_HUMAN,C9JIG7_HUMAN	.	UPI0000073CFB	SNV	TSGA13,synonymous_variant,p.%3D,ENST00000356588,;TSGA13,synonymous_variant,p.%3D,ENST00000456951,;COPG2,upstream_gene_variant,,ENST00000330992,;COPG2,upstream_gene_variant,,ENST00000445977,;	1488	85	100	SUCCESS
SUGCT	79783	.	GRCh37	7	40234654	40234654	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1351260368	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	51	0	ENST00000335693.4:c.500T>C	p.Ile167Thr	p.I167T	ENST00000335693	NM_001193313.1	167	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS55104.1	500	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCATCACAG	NONE	.	.	hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6,Gene3D:3.40.50.10540,Pfam_domain:PF02515,Superfamily_domains:SSF89796	.	.	ENSP00000312054	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000309930	Transcript	.	.	ENSG00000175600	16001	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.987)	.	deleterious(0)	.	SUCHY_HUMAN	SUGCT	HGNC	Q9Y6U8_HUMAN,Q75MU8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN	.	UPI000013EF6B	SNV	SUGCT,missense_variant,p.Ile160Thr,ENST00000540834,;SUGCT,missense_variant,p.Ile167Thr,ENST00000309930,;SUGCT,missense_variant,p.Ile167Thr,ENST00000335693,;SUGCT,missense_variant,p.Ile162Thr,ENST00000416370,;SUGCT,missense_variant,p.Ile179Thr,ENST00000413931,;SUGCT,missense_variant,p.Ile167Thr,ENST00000401647,;SUGCT,downstream_gene_variant,,ENST00000444074,;	524	51	60	SUCCESS
ZNF804B	219578	.	GRCh37	7	88966180	88966180	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	24	123	0	ENST00000333190.4:c.3884T>A	p.Leu1295Ter	p.L1295*	ENST00000333190	NM_181646.2	1295	tTg/tAg	0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS5613.1	3884	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATTGTTTG	NONE	.	.	hmmpanther:PTHR17614:SF12,hmmpanther:PTHR17614	.	.	ENSP00000329638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333190	Transcript	.	.	ENSG00000182348	21958	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z804B_HUMAN	ZNF804B	HGNC	.	.	UPI00001A92D2	SNV	ZNF804B,stop_gained,p.Leu1295Ter,ENST00000333190,;	4493	123	113	SUCCESS
PTP4A3	11156	.	GRCh37	8	142432342	142432342	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs1207702316	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	39	107	0	ENST00000329397.1:c.2T>C	p.Met1?	p.M1?	ENST00000329397		1	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS6383.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCATGGCTC	NONE	.	.	hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF57	.	.	ENSP00000428976	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.145)	.	deleterious(0)	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,start_lost,p.Met1?,ENST00000349124,;PTP4A3,start_lost,p.Met1?,ENST00000521578,;PTP4A3,start_lost,p.Met1?,ENST00000524028,;PTP4A3,start_lost,p.Met1?,ENST00000329397,;PTP4A3,start_lost,p.Met1?,ENST00000520105,;PTP4A3,start_lost,p.Met1?,ENST00000523147,;	947	107	117	SUCCESS
SCRIB	23513	.	GRCh37	8	144873558	144873558	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	133	247	0	ENST00000320476.3:c.4747+1G>A		p.X1583_splice	ENST00000320476	NM_015356.4	1583		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6412.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCACCAGGG	NONE	.	.	.	.	.	ENSP00000349486	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356994	Transcript	1	.	ENSG00000180900	30377	.	.	HIGH	36/36	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCRIB_HUMAN	SCRIB	HGNC	.	.	UPI00004576FD	SNV	SCRIB,splice_donor_variant,,ENST00000377533,;SCRIB,splice_donor_variant,,ENST00000526832,;SCRIB,splice_donor_variant,,ENST00000356994,;SCRIB,splice_donor_variant,,ENST00000320476,;RP11-429J17.8,downstream_gene_variant,,ENST00000532625,;RP11-429J17.8,downstream_gene_variant,,ENST00000534089,;RP11-429J17.8,downstream_gene_variant,,ENST00000527139,;SCRIB,downstream_gene_variant,,ENST00000546337,;SCRIB,splice_donor_variant,,ENST00000531163,;SCRIB,splice_donor_variant,,ENST00000525051,;	.	247	209	SUCCESS
NTRK2	4915	.	GRCh37	9	87636176	87636176	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	87	0	ENST00000277120.3:c.2341T>C	p.Cys781Arg	p.C781R	ENST00000277120		781	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS6671.1	2341	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGTGTATC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000365387	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	deleterious(0)	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,missense_variant,p.Cys765Arg,ENST00000376213,;NTRK2,missense_variant,p.Cys781Arg,ENST00000376214,;NTRK2,missense_variant,p.Cys765Arg,ENST00000323115,;NTRK2,missense_variant,p.Cys781Arg,ENST00000277120,;	3279	88	67	SUCCESS
SPATA31C1	441452	.	GRCh37	9	90534003	90534003	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	A	T	rs777881022	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	16	46	0	ENST00000420021.2:n.523-203A>T		p.*175*	ENST00000420021				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAAGAAA	NONE	byFrequency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs777881022	.	PASS	ENST00000420021	Transcript	.	.	ENSG00000230246	27846	.	.	MODIFIER	2/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SPATA31C1	HGNC	.	.	.	SNV	SPATA31C1,non_coding_transcript_exon_variant,,ENST00000602681,;SPATA31C1,intron_variant,,ENST00000437823,;SPATA31C1,intron_variant,,ENST00000420021,;	.	46	59	SUCCESS
NXF5	55998	.	GRCh37	X	101092559	101092559	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	168	229	0	ENST00000263032.1:c.987T>A	p.Pro329=	p.P329=	ENST00000263032		329	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS14491.2	987	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAGGCAA	NONE	.	.	Superfamily_domains:SSF54427,Gene3D:3.10.450.50,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF26	.	.	ENSP00000442401	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000537026	Transcript	.	.	ENSG00000126952	8075	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXF5_HUMAN	NXF5	HGNC	.	.	UPI0000F059DC	SNV	NXF5,synonymous_variant,p.%3D,ENST00000473265,;NXF5,synonymous_variant,p.%3D,ENST00000361708,;NXF5,synonymous_variant,p.%3D,ENST00000537026,;NXF5,synonymous_variant,p.%3D,ENST00000332614,;NXF5,synonymous_variant,p.%3D,ENST00000361330,;NXF5,synonymous_variant,p.%3D,ENST00000372803,;NXF5,synonymous_variant,p.%3D,ENST00000263032,;NXF5,3_prime_UTR_variant,,ENST00000493509,;	1347	229	237	SUCCESS
MXRA5	25878	.	GRCh37	X	3235461	3235461	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	31	63	0	ENST00000217939.6:c.6261C>G	p.Thr2087=	p.T2087=	ENST00000217939	NM_015419.3	2087	acC/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS14124.1	6261	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGGTACC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000217939	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000217939	Transcript	.	.	ENSG00000101825	7539	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MXRA5_HUMAN	MXRA5	HGNC	.	.	UPI000013C73B	SNV	MXRA5,synonymous_variant,p.%3D,ENST00000217939,;	6416	63	55	SUCCESS
TRIM8	81603	.	GRCh37	10	104404357	104404357	+	5_prime_UTR_variant	5'UTR	SNP	C	C	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	16	69	0	ENST00000302424.7:c.-18C>G		p.*6*	ENST00000302424	NM_030912.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31274.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCCCCCTG	NONE	.	.	.	.	.	ENSP00000302120	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000302424	Transcript	.	.	ENSG00000171206	15579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIM8_HUMAN	TRIM8	HGNC	Q5JSM3_HUMAN	.	UPI0000134321	SNV	TRIM8,5_prime_UTR_variant,,ENST00000302424,;TRIM8,upstream_gene_variant,,ENST00000462202,;RP11-47A8.5,upstream_gene_variant,,ENST00000607967,;TRIM8,upstream_gene_variant,,ENST00000487927,;	105	69	40	SUCCESS
GPAM	57678	.	GRCh37	10	113915915	113915915	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	27	0	ENST00000348367.4:c.2122-104C>T		p.*708*	ENST00000348367				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7570.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCCACT	NONE	.	.	.	.	.	ENSP00000265276	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000348367	Transcript	.	.	ENSG00000119927	24865	.	.	MODIFIER	19/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	SNV	GPAM,3_prime_UTR_variant,,ENST00000369425,;GPAM,intron_variant,,ENST00000348367,;GPAM,intron_variant,,ENST00000423155,;	.	27	32	SUCCESS
ANKRD26	22852	.	GRCh37	10	27313387	27313390	+	frameshift_variant	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs762341895	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	TCTT	TCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	165	96	293	0	ENST00000376087.4:c.4071_4074del	p.Glu1359Ter	p.E1359*	ENST00000376087	NM_014915.2	1357	gaAAGA/ga	0	.	.	.	.	.	-	ER/X	protein_coding	YES	CCDS41499.1	4071-4074	INDELOCATOR*|VARSCANI*|PINDEL	.	TATCTCTCTTTCTAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57997,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	.	.	ENSP00000365255	.	28/34	.	.	.	.	.	.	.	.	rs762341895	28/34	PASS	ENST00000376087	Transcript	1	.	ENSG00000107890	29186	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANR26_HUMAN	ANKRD26	HGNC	.	.	UPI000006FC41	deletion	ANKRD26,frameshift_variant,p.Glu1359Ter,ENST00000376087,;ANKRD26,frameshift_variant,p.Glu916Ter,ENST00000376070,;ANKRD26,frameshift_variant,p.Glu1375Ter,ENST00000436985,;	4237-4240	293	261	SUCCESS
AGAP7	0	.	GRCh37	10	51465688	51465688	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	10	33	0	ENST00000374095.5:c.768C>T	p.Gly256=	p.G256=	ENST00000374095	NM_001077685.2	256	ggC/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS41524.1	768	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGCCGCT	NONE	.	.	hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213	.	.	ENSP00000363208	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000374095	Transcript	.	.	ENSG00000204169	23465	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AGAP7_HUMAN	AGAP7	HGNC	.	.	UPI000016167D	SNV	AGAP7,synonymous_variant,p.%3D,ENST00000374095,;	894	33	36	SUCCESS
ANK3	288	.	GRCh37	10	61832026	61832026	+	synonymous_variant	Silent	SNP	C	C	A	rs754091164	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	32	78	0	ENST00000280772.2:c.8613G>T	p.Ser2871=	p.S2871=	ENST00000280772	NM_020987.3	2871	tcG/tcT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS7258.1	8613	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCGAAAG	CODON|p.S2871L|c.8612C>T|6	byFrequency	.	hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	.	.	ENSP00000280772	.	37/44	.	.	.	.	.	.	.	.	rs754091164	37/44	PASS	ENST00000280772	Transcript	1	.	ENSG00000151150	494	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANK3_HUMAN	ANK3	HGNC	D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN	.	UPI0000141BA9	SNV	ANK3,synonymous_variant,p.%3D,ENST00000280772,;ANK3,intron_variant,,ENST00000373827,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000355288,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000503366,;	8805	78	76	SUCCESS
CCAR1	55749	.	GRCh37	10	70482318	70482319	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	93	27	70	0	ENST00000265872.6:c.57_58insA	p.Ala20SerfsTer74	p.A20Sfs*74	ENST00000265872	NM_018237.2	19	-/A	0	.	.	.	.	.	A	-/X	protein_coding	YES	CCDS7282.1	57-58	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCACTGCAGT	NONE	.	.	hmmpanther:PTHR14304:SF13,hmmpanther:PTHR14304	.	.	ENSP00000265872	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000265872	Transcript	.	.	ENSG00000060339	24236	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCAR1_HUMAN	CCAR1	HGNC	F5H7M9_HUMAN,F5H3I8_HUMAN,F5H1H2_HUMAN	.	UPI000004D30A	insertion	CCAR1,frameshift_variant,p.Ala20SerfsTer84,ENST00000535016,;CCAR1,frameshift_variant,p.Ala79SerfsTer?,ENST00000494903,;CCAR1,frameshift_variant,p.Ala20SerfsTer73,ENST00000543225,;CCAR1,frameshift_variant,p.Ala20SerfsTer84,ENST00000539539,;CCAR1,frameshift_variant,p.Ala20SerfsTer84,ENST00000543719,;CCAR1,frameshift_variant,p.Ala20SerfsTer74,ENST00000265872,;CCAR1,frameshift_variant,p.Ala20SerfsTer74,ENST00000536391,;CCAR1,frameshift_variant,p.Ala20SerfsTer74,ENST00000538031,;CCAR1,intron_variant,,ENST00000536012,;CCAR1,frameshift_variant,p.Ala20SerfsTer74,ENST00000540210,;CCAR1,frameshift_variant,p.Ala20SerfsTer74,ENST00000541012,;CCAR1,frameshift_variant,p.Ala20SerfsTer?,ENST00000543229,;RP11-119F7.6,upstream_gene_variant,,ENST00000603836,;	176-177	70	120	SUCCESS
IFIT3	3437	.	GRCh37	10	91099865	91099865	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	28	77	0	ENST00000371811.4:c.1454del	p.Asn485ThrfsTer5	p.N485Tfs*5	ENST00000371811	NM_001031683.2	485	Aac/ac	0	.	.	.	.	.	-	N/X	protein_coding	YES	CCDS7402.1	1453	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTCTAACTCA	NONE	.	.	.	.	.	ENSP00000360883	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000371818	Transcript	.	.	ENSG00000119917	5411	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFIT3_HUMAN	IFIT3	HGNC	Q5T765_HUMAN,B4DLS7_HUMAN	.	UPI000012D3E5	deletion	IFIT3,frameshift_variant,p.Asn485ThrfsTer5,ENST00000371811,;IFIT3,frameshift_variant,p.Asn485ThrfsTer5,ENST00000371818,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000489359,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	1633	77	110	SUCCESS
PLCE1-AS1	100128054	.	GRCh37	10	96039770	96039770	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	18	31	0	ENST00000596633.1:n.947G>C		p.*316*	ENST00000596633				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41552.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATACGGATG	NONE	.	.	.	.	.	ENSP00000360431	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371380	Transcript	1	.	ENSG00000138193	17175	.	.	MODIFIER	19/31	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCE1_HUMAN	PLCE1	HGNC	B7ZM61_HUMAN	.	UPI00001F93EE	SNV	PLCE1,intron_variant,,ENST00000371380,;PLCE1,intron_variant,,ENST00000260766,;PLCE1,intron_variant,,ENST00000371375,;PLCE1,intron_variant,,ENST00000371385,;PLCE1-AS1,non_coding_transcript_exon_variant,,ENST00000425267,;PLCE1-AS1,non_coding_transcript_exon_variant,,ENST00000596633,;PLCE1-AS1,downstream_gene_variant,,ENST00000440198,;	.	31	38	SUCCESS
SLC5A12	159963	.	GRCh37	11	26725171	26725171	+	missense_variant	Missense_Mutation	SNP	A	A	T	.	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	95	0	ENST00000396005.3:c.728T>A	p.Val243Glu	p.V243E	ENST00000396005	NM_178498.3	243	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS7860.2	728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCACTGTG	NONE	.	.	hmmpanther:PTHR11819,Pfam_domain:PF00474,hmmpanther:PTHR11819:SF113,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,TIGRFAM_domain:TIGR00813	.	.	ENSP00000379326	.	6/15	.	.	.	.	.	.	.	.	COSM1507691,COSM1507692	6/15	PASS	ENST00000396005	Transcript	.	.	ENSG00000148942	28750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.95)	.	deleterious(0)	1,1	SC5AC_HUMAN	SLC5A12	HGNC	E9PLZ7_HUMAN	.	UPI000003ED2C	SNV	SLC5A12,missense_variant,p.Val243Glu,ENST00000280467,;SLC5A12,missense_variant,p.Val55Glu,ENST00000533617,;SLC5A12,missense_variant,p.Val243Glu,ENST00000396005,;SLC5A12,missense_variant,p.Val55Glu,ENST00000527405,;	1038	95	83	SUCCESS
GRM5	2915	.	GRCh37	11	88242143	88242143	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs750769107	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	39	148	0	ENST00000305447.4:c.3256A>T	p.Ser1086Cys	p.S1086C	ENST00000305447	NM_001143831.2	1086	Agc/Tgc	0	.	.	.	.	.	A	S/C	protein_coding	YES	CCDS44694.1	3256	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCTGGGGG	NONE	byFrequency	.	.	.	.	ENSP00000402912	.	10/10	.	.	.	.	.	.	.	.	rs750769107	10/10	PASS	ENST00000418177	Transcript	.	.	ENSG00000168959	4597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.312)	.	deleterious_low_confidence(0.01)	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,missense_variant,p.Ser1086Cys,ENST00000305447,;GRM5,missense_variant,p.Ser1054Cys,ENST00000305432,;GRM5,missense_variant,p.Ser1086Cys,ENST00000418177,;GRM5,missense_variant,p.Ser1054Cys,ENST00000455756,;GRM5,intron_variant,,ENST00000393297,;GRM5-AS1,intron_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;	3624	148	121	SUCCESS
UTP20	27340	.	GRCh37	12	101779827	101779827	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	114	311	0	ENST00000261637.4:c.8284G>C	p.Glu2762Gln	p.E2762Q	ENST00000261637	NM_014503.2	2762	Gag/Cag	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS9081.1	8284	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATAGAGTTC	NONE	.	.	hmmpanther:PTHR17695:SF11,hmmpanther:PTHR17695	.	.	ENSP00000261637	.	62/62	.	.	.	.	.	.	.	.	COSM3954045	62/62	PASS	ENST00000261637	Transcript	.	.	ENSG00000120800	17897	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.929)	.	tolerated(0.1)	1	UTP20_HUMAN	UTP20	HGNC	.	.	UPI00001FB38B	SNV	UTP20,missense_variant,p.Glu2762Gln,ENST00000261637,;	8458	311	323	SUCCESS
ATP2A2	488	.	GRCh37	12	110782702	110782716	+	inframe_deletion	In_Frame_Del	DEL	GCTGCTACCGTGGGT	GCTGCTACCGTGGGT	-	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	GCTGCTACCGTGGGT	GCTGCTACCGTGGGT	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	131	0	ENST00000539276.2:c.2539_2553del	p.Thr847_Ala851del	p.T847_A851del	ENST00000539276		845	GCTGCTACCGTGGGT/-	0	.	.	.	.	.	-	AATVG/-	protein_coding	YES	CCDS9144.1	2533-2547	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCGGCGCTGCTACCGTGGGTGCTGC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF234,hmmpanther:PTHR24093,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01116,Gene3D:1.20.1110.10,Superfamily_domains:0049473	.	.	ENSP00000440045	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000539276	Transcript	.	.	ENSG00000174437	812	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT2A2_HUMAN	ATP2A2	HGNC	.	.	UPI0000001C3A	deletion	ATP2A2,inframe_deletion,p.Thr820_Ala824del,ENST00000395494,;ATP2A2,inframe_deletion,p.Thr738_Ala742del,ENST00000548169,;ATP2A2,inframe_deletion,p.Thr847_Ala851del,ENST00000308664,;ATP2A2,inframe_deletion,p.Thr847_Ala851del,ENST00000539276,;ATP2A2,upstream_gene_variant,,ENST00000553144,;ATP2A2,3_prime_UTR_variant,,ENST00000377685,;ATP2A2,non_coding_transcript_exon_variant,,ENST00000547792,;ATP2A2,upstream_gene_variant,,ENST00000313432,;	2642-2656	131	87	SUCCESS
ZNF268	10795	.	GRCh37	12	133780472	133780472	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1285586749	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	2	20	0	ENST00000228289.5:c.2200A>G	p.Ser734Gly	p.S734G	ENST00000228289	NM_001165882.2	734	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS45012.1	2200	MUTECT|MUSE	.	CCTTTAGTTTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF255,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000444412	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000536435	Transcript	.	.	ENSG00000090612	13061	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	tolerated(0.12)	.	ZN268_HUMAN	ZNF268	HGNC	Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN	.	UPI000013C33E	SNV	ZNF268,missense_variant,p.Ser734Gly,ENST00000536435,;ZNF268,missense_variant,p.Ser573Gly,ENST00000537565,;ZNF268,missense_variant,p.Ser734Gly,ENST00000228289,;ZNF268,3_prime_UTR_variant,,ENST00000542986,;ZNF268,3_prime_UTR_variant,,ENST00000541009,;ZNF268,3_prime_UTR_variant,,ENST00000536899,;ZNF268,downstream_gene_variant,,ENST00000416488,;CTD-2140B24.4,downstream_gene_variant,,ENST00000540096,;ZNF268,downstream_gene_variant,,ENST00000591951,;ZNF268,downstream_gene_variant,,ENST00000500625,;ZNF268,downstream_gene_variant,,ENST00000539248,;ZNF268,downstream_gene_variant,,ENST00000592241,;ZNF268,downstream_gene_variant,,ENST00000541211,;ZNF268,downstream_gene_variant,,ENST00000542711,;ZNF268,downstream_gene_variant,,ENST00000534953,;ZNF268,downstream_gene_variant,,ENST00000585488,;ZNF268,downstream_gene_variant,,ENST00000588312,;	2530	20	10	SUCCESS
MFAP5	8076	.	GRCh37	12	8800725	8800725	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	174	88	244	0	ENST00000359478.2:c.484T>A	p.Cys162Ser	p.C162S	ENST00000359478	NM_003480.2	162	Tgt/Agt	0	.	.	.	.	.	T	C/S	protein_coding	YES	CCDS8595.1	484	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACAGGGAG	NONE	.	.	hmmpanther:PTHR16485:SF5,hmmpanther:PTHR16485	.	.	ENSP00000352455	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000359478	Transcript	.	.	ENSG00000197614	29673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MFAP5_HUMAN	MFAP5	HGNC	H0YGS3_HUMAN,F5H1C0_HUMAN	.	UPI000012F034	SNV	MFAP5,missense_variant,p.Cys162Ser,ENST00000359478,;MFAP5,missense_variant,p.Cys140Ser,ENST00000543369,;MFAP5,missense_variant,p.Cys137Ser,ENST00000433590,;MFAP5,missense_variant,p.Cys152Ser,ENST00000540087,;MFAP5,missense_variant,p.Cys152Ser,ENST00000535411,;MFAP5,missense_variant,p.Cys152Ser,ENST00000396549,;MFAP5,missense_variant,p.Cys68Ser,ENST00000543467,;MFAP5,missense_variant,p.Cys98Ser,ENST00000535336,;MFAP5,downstream_gene_variant,,ENST00000544889,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538694,;MFAP5,downstream_gene_variant,,ENST00000538107,;MFAP5,3_prime_UTR_variant,,ENST00000544211,;MFAP5,downstream_gene_variant,,ENST00000537009,;MFAP5,downstream_gene_variant,,ENST00000534833,;	672	244	262	SUCCESS
HMGB1	3146	.	GRCh37	13	31036826	31036826	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	61	148	0	ENST00000339872.4:c.320C>G	p.Ser107Cys	p.S107C	ENST00000339872		107	tCt/tGt	0	.	.	.	.	.	C	S/C	protein_coding	YES	CCDS9335.1	320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAGAGCAG	NONE	.	.	PROSITE_profiles:PS50118,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF157,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095	.	.	ENSP00000384678	.	4/5	.	.	.	.	.	.	.	.	COSM3987359	4/5	PASS	ENST00000405805	Transcript	.	.	ENSG00000189403	4983	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.355)	.	deleterious(0)	1	HMGB1_HUMAN	HMGB1	HGNC	Q9NYD7_HUMAN,Q5T7C0_HUMAN	.	UPI00000015ED	SNV	HMGB1,missense_variant,p.Ser107Cys,ENST00000405805,;HMGB1,missense_variant,p.Ser107Cys,ENST00000339872,;HMGB1,missense_variant,p.Ser107Cys,ENST00000399494,;HMGB1,missense_variant,p.Ser107Cys,ENST00000399489,;HMGB1,missense_variant,p.Ser107Cys,ENST00000341423,;HMGB1,missense_variant,p.Ser107Cys,ENST00000326004,;HMGB1,downstream_gene_variant,,ENST00000398908,;HMGB1,non_coding_transcript_exon_variant,,ENST00000490788,;HMGB1,downstream_gene_variant,,ENST00000468384,;	1261	149	159	SUCCESS
TPT1	7178	.	GRCh37	13	45914920	45914920	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	41	104	1	ENST00000530705.1:c.29A>T	p.His10Leu	p.H10L	ENST00000530705		10	cAc/cTc	0	.	.	.	.	.	A	H/L	protein_coding	YES	CCDS9397.1	29	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCGTCTGCC	NONE	.	.	hmmpanther:PTHR11991:SF3,hmmpanther:PTHR11991,Gene3D:2.170.150.10,Pfam_domain:PF00838,Superfamily_domains:SSF51316,Prints_domain:PR01653	.	.	ENSP00000431872	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000530705	Transcript	.	.	ENSG00000133112	12022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated(0.37)	.	TCTP_HUMAN	TPT1	HGNC	Q8TBK7_HUMAN,Q86YH5_HUMAN,J3KPG2_HUMAN	.	UPI0000000FED	SNV	TPT1,missense_variant,p.Asp9Val,ENST00000527226,;TPT1,missense_variant,p.His10Leu,ENST00000530705,;TPT1,missense_variant,p.His10Leu,ENST00000309246,;TPT1,splice_region_variant,,ENST00000379060,;TPT1,5_prime_UTR_variant,,ENST00000379055,;TPT1,intron_variant,,ENST00000379056,;TPT1,upstream_gene_variant,,ENST00000528619,;TPT1,upstream_gene_variant,,ENST00000530245,;SNORA31,upstream_gene_variant,,ENST00000362607,;SNORA31,upstream_gene_variant,,ENST00000517242,;RP11-290D2.6,intron_variant,,ENST00000610057,;TPT1-AS1,upstream_gene_variant,,ENST00000520310,;TPT1-AS1,upstream_gene_variant,,ENST00000521507,;TPT1-AS1,upstream_gene_variant,,ENST00000412946,;TPT1-AS1,upstream_gene_variant,,ENST00000517509,;TPT1-AS1,upstream_gene_variant,,ENST00000523445,;TPT1-AS1,upstream_gene_variant,,ENST00000523506,;TPT1-AS1,upstream_gene_variant,,ENST00000520622,;TPT1-AS1,upstream_gene_variant,,ENST00000520590,;TPT1-AS1,upstream_gene_variant,,ENST00000521336,;TPT1,upstream_gene_variant,,ENST00000529421,;TPT1,splice_region_variant,,ENST00000442760,;TPT1,intron_variant,,ENST00000490277,;TPT1-AS1,upstream_gene_variant,,ENST00000520924,;TPT1-AS1,upstream_gene_variant,,ENST00000524062,;TPT1-AS1,upstream_gene_variant,,ENST00000522859,;TPT1,upstream_gene_variant,,ENST00000533567,;TPT1,upstream_gene_variant,,ENST00000484604,;	330	105	84	SUCCESS
SYNE2	23224	.	GRCh37	14	64600832	64600832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	49	132	0	ENST00000344113.4:c.14560C>A	p.Leu4854Met	p.L4854M	ENST00000344113	NM_015180.4	4854	Ctg/Atg	0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS9761.2	14560	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGACCTGGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,SMART_domains:SM00150	.	.	ENSP00000350719	.	78/116	.	.	.	.	.	.	.	.	.	78/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Leu4771Met,ENST00000554584,;SYNE2,missense_variant,p.Leu1239Met,ENST00000394768,;SYNE2,missense_variant,p.Leu4854Met,ENST00000344113,;SYNE2,missense_variant,p.Leu1239Met,ENST00000357395,;SYNE2,missense_variant,p.Leu4854Met,ENST00000358025,;SYNE2,missense_variant,p.Leu1488Met,ENST00000555002,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;	14790	132	118	SUCCESS
NRXN3	9369	.	GRCh37	14	80271457	80271457	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	22	67	0	ENST00000557594.1:c.912A>G		p.X304_splice	ENST00000557594		304	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS9870.1	2808	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAACATC	NONE	.	.	hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127	.	.	ENSP00000451648	.	16/17	.	.	.	.	.	.	.	.	.	16/17	PASS	ENST00000554719	Transcript	.	.	ENSG00000021645	8010	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,synonymous_variant,p.%3D,ENST00000554719,;NRXN3,synonymous_variant,p.%3D,ENST00000281127,;NRXN3,synonymous_variant,p.%3D,ENST00000557594,;NRXN3,synonymous_variant,p.%3D,ENST00000335750,;NRXN3,synonymous_variant,p.%3D,ENST00000428277,;NRXN3,intron_variant,,ENST00000556003,;NRXN3,synonymous_variant,p.%3D,ENST00000555387,;NRXN3,synonymous_variant,p.%3D,ENST00000554738,;	3299	67	52	SUCCESS
PRSS21	10942	.	GRCh37	16	2867793	2867812	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CCATCCGAGGACCATGCGGC	CCATCCGAGGACCATGCGGC	-	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	CCATCCGAGGACCATGCGGC	CCATCCGAGGACCATGCGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	61	12	99	0	ENST00000005995.3:c.92-8_103del		p.X31_splice	ENST00000005995		31		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10478.1	?-102	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCTGACCATCCGAGGACCATGCGGCCGACG	NONE	.	.	.	.	.	ENSP00000005995	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000005995	Transcript	.	.	ENSG00000007038	9485	1	.	HIGH	2/5	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEST_HUMAN	PRSS21	HGNC	.	.	UPI000004813E	deletion	PRSS21,splice_acceptor_variant,,ENST00000005995,;PRSS21,splice_acceptor_variant,,ENST00000574813,;PRSS21,splice_acceptor_variant,,ENST00000450020,;PRSS21,splice_acceptor_variant,,ENST00000455114,;PRSS21,upstream_gene_variant,,ENST00000574265,;PRSS21,upstream_gene_variant,,ENST00000575739,;PRSS21,splice_acceptor_variant,,ENST00000570629,;PRSS21,splice_acceptor_variant,,ENST00000570594,;PRSS21,non_coding_transcript_exon_variant,,ENST00000571141,;PRSS21,non_coding_transcript_exon_variant,,ENST00000575199,;PRSS21,non_coding_transcript_exon_variant,,ENST00000577043,;LA16c-352F10.1,downstream_gene_variant,,ENST00000572664,;	?-144	99	73	SUCCESS
KREMEN2	79412	.	GRCh37	16	3018021	3018021	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	43	1	ENST00000303746.5:c.1389A>C	p.Ter463CysextTer31	p.*463Cext*31	ENST00000303746		463	tgA/tgC	0	.	.	.	.	.	C	*/C	protein_coding	YES	CCDS10483.1	1389	MUTECT|MUSE	.	CTCTGACTCTG	NONE	.	.	.	.	.	ENSP00000304422	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000303746	Transcript	.	.	ENSG00000131650	18797	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KREM2_HUMAN	KREMEN2	HGNC	.	.	UPI000006F428	SNV	KREMEN2,stop_lost,p.Ter463CysextTer31,ENST00000303746,;KREMEN2,stop_lost,p.Ter424CysextTer31,ENST00000571007,;KREMEN2,3_prime_UTR_variant,,ENST00000319500,;KREMEN2,3_prime_UTR_variant,,ENST00000572045,;KREMEN2,3_prime_UTR_variant,,ENST00000575885,;KREMEN2,3_prime_UTR_variant,,ENST00000575769,;PAQR4,upstream_gene_variant,,ENST00000576565,;PKMYT1,downstream_gene_variant,,ENST00000262300,;PAQR4,upstream_gene_variant,,ENST00000574988,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000573944,;PKMYT1,downstream_gene_variant,,ENST00000431515,;PKMYT1,downstream_gene_variant,,ENST00000440027,;PAQR4,upstream_gene_variant,,ENST00000572687,;PAQR4,upstream_gene_variant,,ENST00000293978,;PAQR4,upstream_gene_variant,,ENST00000318782,;PKMYT1,downstream_gene_variant,,ENST00000574730,;PKMYT1,downstream_gene_variant,,ENST00000574385,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,downstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000572832,;PKMYT1,downstream_gene_variant,,ENST00000575981,;PKMYT1,downstream_gene_variant,,ENST00000574680,;PKMYT1,downstream_gene_variant,,ENST00000382240,;	1966	44	44	SUCCESS
PRPF8	10594	.	GRCh37	17	1577803	1577803	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	56	171	0	ENST00000304992.6:c.3232G>A	p.Ala1078Thr	p.A1078T	ENST00000304992	NM_006445.3	1078	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS11010.1	3232	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGCTATGT	NONE	.	.	hmmpanther:PTHR11140:SF0,hmmpanther:PTHR11140,Superfamily_domains:SSF53098	.	.	ENSP00000460348	.	20/42	.	.	.	.	.	.	.	.	.	20/42	PASS	ENST00000572621	Transcript	.	.	ENSG00000174231	17340	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.48)	.	PRP8_HUMAN	PRPF8	HGNC	.	.	UPI000006F2DD	SNV	PRPF8,missense_variant,p.Ala1078Thr,ENST00000572621,;PRPF8,missense_variant,p.Ala1078Thr,ENST00000304992,;PRPF8,downstream_gene_variant,,ENST00000577001,;PRPF8,upstream_gene_variant,,ENST00000574217,;PRPF8,downstream_gene_variant,,ENST00000573716,;PRPF8,downstream_gene_variant,,ENST00000576407,;PRPF8,downstream_gene_variant,,ENST00000576958,;	3498	171	163	SUCCESS
SLFN11	91607	.	GRCh37	17	33680389	33680389	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765053182	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	324	77	401	0	ENST00000308377.4:c.1888G>A	p.Val630Ile	p.V630I	ENST00000308377	NM_152270.3	630	Gtt/Att	0	.	.	.	.	.	T	V/I	protein_coding	YES	CCDS11294.1	1888	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAACGTAGA	NONE	byFrequency	.	hmmpanther:PTHR12155:SF20,hmmpanther:PTHR12155,Pfam_domain:PF09848,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000378067	.	6/7	.	.	.	.	.	.	.	.	rs765053182	6/7	PASS	ENST00000394566	Transcript	.	.	ENSG00000172716	26633	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(1)	.	SLN11_HUMAN	SLFN11	HGNC	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN	.	UPI0000140B0E	SNV	SLFN11,missense_variant,p.Val630Ile,ENST00000394566,;SLFN11,missense_variant,p.Val630Ile,ENST00000308377,;SLFN11,upstream_gene_variant,,ENST00000592108,;	2161	401	401	SUCCESS
SLFN14	342618	.	GRCh37	17	33875988	33875988	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	38	96	0	ENST00000415846.3:c.2009A>G	p.Lys670Arg	p.K670R	ENST00000415846	NM_001129820.1	670	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS45650.1	2009	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATTTGCTG	NONE	.	.	hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF22,Superfamily_domains:SSF52540	.	.	ENSP00000391101	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000415846	Transcript	.	.	ENSG00000236320	32689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.12)	.	SLN14_HUMAN	SLFN14	HGNC	.	.	UPI000041A9FB	SNV	SLFN14,missense_variant,p.Lys670Arg,ENST00000415846,;RP11-1094M14.12,upstream_gene_variant,,ENST00000588445,;	2045	96	97	SUCCESS
IFI35	3430	.	GRCh37	17	41166200	41166200	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	111	0	ENST00000415816.2:c.745G>C	p.Asp249His	p.D249H	ENST00000415816	NM_005533.4	249	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS11450.1	751	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATGACGTC	NONE	.	.	Pfam_domain:PF07292,hmmpanther:PTHR15225,hmmpanther:PTHR15225:SF1	.	.	ENSP00000395590	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000438323	Transcript	.	.	ENSG00000068079	5399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	IN35_HUMAN	IFI35	HGNC	.	.	UPI0000200E4E	SNV	IFI35,missense_variant,p.Asp251His,ENST00000438323,;IFI35,missense_variant,p.Asp249His,ENST00000415816,;VAT1,downstream_gene_variant,,ENST00000587173,;VAT1,downstream_gene_variant,,ENST00000420567,;VAT1,downstream_gene_variant,,ENST00000355653,;VAT1,downstream_gene_variant,,ENST00000587147,;VAT1,downstream_gene_variant,,ENST00000587062,;VAT1,downstream_gene_variant,,ENST00000589828,;VAT1,downstream_gene_variant,,ENST00000590924,;VAT1,downstream_gene_variant,,ENST00000589709,;IFI35,downstream_gene_variant,,ENST00000536969,;IFI35,downstream_gene_variant,,ENST00000538473,;IFI35,downstream_gene_variant,,ENST00000534876,;IFI35,downstream_gene_variant,,ENST00000246911,;IFI35,downstream_gene_variant,,ENST00000546325,;IFI35,downstream_gene_variant,,ENST00000396722,;VAT1,downstream_gene_variant,,ENST00000592388,;	959	112	89	SUCCESS
AXIN2	8313	.	GRCh37	17	63533642	63533642	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	62	1	ENST00000307078.5:c.1512C>G	p.Gly504=	p.G504=	ENST00000307078	NM_004655.3	504	ggC/ggG	0	.	.	.	.	.	C	G	protein_coding	YES	CCDS11662.1	1512	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAGCCTTT	NONE	.	.	hmmpanther:PTHR10845:SF103,hmmpanther:PTHR10845	.	.	ENSP00000302625	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000307078	Transcript	.	.	ENSG00000168646	904	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AXIN2_HUMAN	AXIN2	HGNC	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN	.	UPI00001AEE5A	SNV	AXIN2,synonymous_variant,p.%3D,ENST00000375702,;AXIN2,synonymous_variant,p.%3D,ENST00000307078,;AXIN2,upstream_gene_variant,,ENST00000578251,;CTD-2535L24.2,downstream_gene_variant,,ENST00000577662,;	1826	64	48	SUCCESS
ZSCAN30	100101467	.	GRCh37	18	32833559	32833559	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	56	130	0	ENST00000333206.5:c.1340G>C	p.Gly447Ala	p.G447A	ENST00000333206	NM_001112734.2	447	gGa/gCa	0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS42427.1	1340	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCCACAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF47,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000392371	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000420878	Transcript	.	.	ENSG00000186814	33517	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.687)	.	deleterious(0.01)	.	ZSC30_HUMAN	ZSCAN30	HGNC	K7ERA9_HUMAN,K7EPB0_HUMAN	.	UPI00001867D6	SNV	ZSCAN30,missense_variant,p.Gly447Ala,ENST00000420878,;ZSCAN30,missense_variant,p.Gly447Ala,ENST00000333206,;ZNF397,intron_variant,,ENST00000261333,;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000592264,;ZNF397,intron_variant,,ENST00000589420,;ZSCAN30,non_coding_transcript_exon_variant,,ENST00000590777,;ZNF397,upstream_gene_variant,,ENST00000591505,;	1796	130	123	SUCCESS
ZNF681	148213	.	GRCh37	19	23938228	23938228	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	336	157	519	0	ENST00000402377.3:c.129G>T	p.Leu43Phe	p.L43F	ENST00000402377	NM_138286.2	43	ttG/ttT	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS12414.2	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCCAAGAA	NONE	.	.	PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	.	.	ENSP00000384000	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious(0)	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,missense_variant,p.Leu43Phe,ENST00000402377,;ZNF681,intron_variant,,ENST00000395385,;ZNF681,intron_variant,,ENST00000528059,;ZNF681,intron_variant,,ENST00000531570,;	271	519	494	SUCCESS
CKM	1158	.	GRCh37	19	45810854	45810854	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	26	99	0	ENST00000221476.3:c.832G>C	p.Gly278Arg	p.G278R	ENST00000221476	NM_001824.4	278	Ggc/Cgc	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS12659.1	832	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGCCCAGGT	NONE	.	.	PROSITE_profiles:PS51510,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931	.	.	ENSP00000221476	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000221476	Transcript	.	.	ENSG00000104879	1994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.01)	.	KCRM_HUMAN	CKM	HGNC	.	.	UPI000012DCC3	SNV	CKM,missense_variant,p.Gly278Arg,ENST00000221476,;MARK4,downstream_gene_variant,,ENST00000262891,;MARK4,downstream_gene_variant,,ENST00000300843,;	1007	100	91	SUCCESS
TNFRSF18	8784	.	GRCh37	1	1140775	1140775	+	synonymous_variant	Silent	SNP	G	G	C	.	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	101	341	0	ENST00000379268.2:c.285C>G	p.Pro95=	p.P95=	ENST00000379268	NM_004195.2	95	ccC/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS9.1	285	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGGGACA	NONE	.	.	Low_complexity_(Seg):seg,Prints_domain:PR01968,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF4	.	.	ENSP00000328207	.	2/4	.	.	.	.	.	.	.	.	COSM3471430,COSM3471431	2/4	PASS	ENST00000328596	Transcript	.	.	ENSG00000186891	11914	.	.	LOW	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	TNR18_HUMAN	TNFRSF18	HGNC	.	.	UPI000002B5CE	SNV	TNFRSF18,synonymous_variant,p.%3D,ENST00000379265,;TNFRSF18,synonymous_variant,p.%3D,ENST00000379268,;TNFRSF18,synonymous_variant,p.%3D,ENST00000486728,;TNFRSF18,synonymous_variant,p.%3D,ENST00000328596,;	285	341	298	SUCCESS
ACAP3	116983	.	GRCh37	1	1229084	1229084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	14	0	ENST00000354700.5:c.2365C>T	p.Arg789Cys	p.R789C	ENST00000354700	NM_030649.2	789	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS19.2	2365	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CAGACGGAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF230,hmmpanther:PTHR23180,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	.	.	ENSP00000346733	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000354700	Transcript	.	.	ENSG00000131584	16754	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	ACAP3_HUMAN	ACAP3	HGNC	Q8WTZ1_HUMAN,Q8N2W2_HUMAN	.	UPI0000050F41	SNV	ACAP3,missense_variant,p.Arg789Cys,ENST00000354700,;ACAP3,missense_variant,p.Arg714Cys,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000338555,;SCNN1D,downstream_gene_variant,,ENST00000325425,;SCNN1D,downstream_gene_variant,,ENST00000379099,;SCNN1D,downstream_gene_variant,,ENST00000400928,;SCNN1D,downstream_gene_variant,,ENST00000379116,;ACAP3,downstream_gene_variant,,ENST00000379037,;ACAP3,non_coding_transcript_exon_variant,,ENST00000467278,;ACAP3,non_coding_transcript_exon_variant,,ENST00000492936,;SCNN1D,downstream_gene_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000476572,;ACAP3,downstream_gene_variant,,ENST00000493992,;ACAP3,downstream_gene_variant,,ENST00000470659,;	2568	14	13	SUCCESS
STX6	10228	.	GRCh37	1	180991796	180991796	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	166	39	157	0	ENST00000258301.5:c.14A>T	p.Asp5Val	p.D5V	ENST00000258301	NM_005819.4	5	gAc/gTc	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS1341.1	14	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGTCCTCC	NONE	.	.	hmmpanther:PTHR12380:SF35,hmmpanther:PTHR12380,Gene3D:1.20.58.90,Pfam_domain:PF09177,Superfamily_domains:SSF47661	.	.	ENSP00000258301	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000258301	Transcript	.	.	ENSG00000135823	11441	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.775)	.	deleterious(0)	.	STX6_HUMAN	STX6	HGNC	B4DR17_HUMAN	.	UPI00000490D6	SNV	STX6,missense_variant,p.Asp5Val,ENST00000258301,;STX6,5_prime_UTR_variant,,ENST00000542060,;	252	157	205	SUCCESS
ARPC5	10092	.	GRCh37	1	183602268	183602268	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	33	113	0	ENST00000359856.6:c.165A>G	p.Leu55=	p.L55=	ENST00000359856	NM_005717.3	55	ctA/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS58050.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTAGGGC	NONE	.	.	hmmpanther:PTHR12644:SF1,hmmpanther:PTHR12644,Pfam_domain:PF04699,Gene3D:1k8kG00,Superfamily_domains:0047762	.	.	ENSP00000294742	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000294742	Transcript	.	.	ENSG00000162704	708	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARPC5_HUMAN	ARPC5	HGNC	.	.	UPI00001CE02C	SNV	ARPC5,synonymous_variant,p.%3D,ENST00000294742,;ARPC5,synonymous_variant,p.%3D,ENST00000359856,;ARPC5,synonymous_variant,p.%3D,ENST00000367534,;RGL1,upstream_gene_variant,,ENST00000304685,;RGL1,upstream_gene_variant,,ENST00000536277,;ARPC5,non_coding_transcript_exon_variant,,ENST00000462965,;ARPC5,non_coding_transcript_exon_variant,,ENST00000602490,;	272	113	200	SUCCESS
CR1	1378	.	GRCh37	1	207748949	207748949	+	synonymous_variant	Silent	SNP	C	C	T	rs746948411	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	348	86	261	0	ENST00000367051.1:c.3111C>T	p.Leu1037=	p.L1037=	ENST00000367051		1037	ctC/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS44308.1	4461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACTCATTGG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356016	.	28/47	.	.	.	.	.	.	.	.	rs746948411	28/47	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,synonymous_variant,p.%3D,ENST00000367051,;CR1,synonymous_variant,p.%3D,ENST00000400960,;CR1,synonymous_variant,p.%3D,ENST00000367052,;CR1,synonymous_variant,p.%3D,ENST00000367049,;CR1,synonymous_variant,p.%3D,ENST00000534202,;CR1,synonymous_variant,p.%3D,ENST00000367053,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000596003,;RP11-78B10.2,intron_variant,,ENST00000597497,;CR1,downstream_gene_variant,,ENST00000436595,;	4461	261	435	SUCCESS
AHCTF1	25909	.	GRCh37	1	247024559	247024559	+	synonymous_variant	Silent	SNP	A	A	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	154	185	0	ENST00000326225.3:c.3801T>G	p.Pro1267=	p.P1267=	ENST00000326225	NM_015446.4	1267	ccT/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS1629.2	3801	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAGGTGT	NONE	.	.	hmmpanther:PTHR21583	.	.	ENSP00000355465	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000326225	Transcript	.	.	ENSG00000153207	24618	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELYS_HUMAN	AHCTF1	HGNC	C9J5C5_HUMAN	.	UPI0000204034	SNV	AHCTF1,synonymous_variant,p.%3D,ENST00000391829,;AHCTF1,synonymous_variant,p.%3D,ENST00000366508,;AHCTF1,synonymous_variant,p.%3D,ENST00000326225,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;	3898	185	351	SUCCESS
SMAP2	64744	.	GRCh37	1	40881993	40881993	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs202167503	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	42	103	0	ENST00000372718.3:c.827C>T	p.Thr276Met	p.T276M	ENST00000372718	NM_022733.2	276	aCg/aTg	0	.	T:0	.	T:0.0014	.	T	T/M	protein_coding	YES	CCDS451.1	827	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACGCCTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR23180:SF29,hmmpanther:PTHR23180	T:0	.	ENSP00000361803	T:0	8/10	.	.	.	.	.	.	.	.	rs202167503,COSM4007936,COSM4007937	8/10	PASS	ENST00000372718	Transcript	.	T:0.0002	ENSG00000084070	25082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	possibly_damaging(0.474)	T:0	deleterious(0)	0,1,1	SMAP2_HUMAN	SMAP2	HGNC	B7Z2F9_HUMAN	.	UPI000006DD04	SNV	SMAP2,missense_variant,p.Thr276Met,ENST00000372718,;SMAP2,missense_variant,p.Thr246Met,ENST00000372708,;SMAP2,missense_variant,p.Thr196Met,ENST00000539317,;SMAP2,downstream_gene_variant,,ENST00000435168,;SMAP2,downstream_gene_variant,,ENST00000487871,;	1251	103	62	SUCCESS
HSPA12B	116835	.	GRCh37	20	3723019	3723019	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	59	0	ENST00000254963.2:c.230G>C	p.Ser77Thr	p.S77T	ENST00000254963	NM_052970.4	77	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS13061.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGCTTTG	NONE	.	.	hmmpanther:PTHR14187:SF39,hmmpanther:PTHR14187,Gene3D:3.30.420.40,Superfamily_domains:SSF53067	.	.	ENSP00000254963	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000254963	Transcript	.	.	ENSG00000132622	16193	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.976)	.	deleterious(0.01)	.	HS12B_HUMAN	HSPA12B	HGNC	Q5JX83_HUMAN,B7ZLP2_HUMAN,B4DLR4_HUMAN	.	UPI00001285E5	SNV	HSPA12B,missense_variant,p.Ser77Thr,ENST00000254963,;HSPA12B,5_prime_UTR_variant,,ENST00000399701,;HSPA12B,intron_variant,,ENST00000542646,;	375	59	54	SUCCESS
PREX1	57580	.	GRCh37	20	47262565	47262565	+	synonymous_variant	Silent	SNP	C	C	T	rs764777154	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	39	0	ENST00000371941.3:c.3336G>A	p.Ser1112=	p.S1112=	ENST00000371941	NM_020820.3	1112	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS13410.1	3336	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCGAGGT	NONE	byFrequency	.	hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	.	.	ENSP00000361009	.	26/40	.	.	.	.	.	.	.	.	rs764777154	26/40	PASS	ENST00000371941	Transcript	.	.	ENSG00000124126	32594	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PREX1_HUMAN	PREX1	HGNC	.	.	UPI000013D375	SNV	PREX1,synonymous_variant,p.%3D,ENST00000396220,;PREX1,synonymous_variant,p.%3D,ENST00000371941,;PREX1,upstream_gene_variant,,ENST00000496915,;PREX1,synonymous_variant,p.%3D,ENST00000482556,;	3359	39	33	SUCCESS
CASS4	57091	.	GRCh37	20	55025670	55025670	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	37	120	0	ENST00000360314.3:c.577del	p.Gln193SerfsTer28	p.Q193Sfs*28	ENST00000360314	NM_001164116.1	193	Cag/ag	0	.	.	.	.	.	-	Q/X	protein_coding	YES	CCDS33492.1	577	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGCAGCAGTTA	NONE	.	.	hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654	.	.	ENSP00000360387	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000371336	Transcript	.	.	ENSG00000087589	15878	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CASS4_HUMAN	CASS4	HGNC	.	.	UPI00001285DB	deletion	CASS4,frameshift_variant,p.Gln193SerfsTer28,ENST00000371336,;CASS4,frameshift_variant,p.Gln193SerfsTer28,ENST00000360314,;CASS4,frameshift_variant,p.Gln193SerfsTer118,ENST00000434344,;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	778	120	141	SUCCESS
CLDN5	7122	.	GRCh37	22	19511459	19511459	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	65	0	ENST00000406028.1:c.575G>A	p.Cys192Tyr	p.C192Y	ENST00000406028		192	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS13763.2	575	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGCAGGTG	NONE	.	.	hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF35,Pfam_domain:PF00822	.	.	ENSP00000385477	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000406028	Transcript	.	.	ENSG00000184113	2047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0)	.	CLD5_HUMAN	CLDN5	HGNC	D3DX19_HUMAN	.	UPI0000207B80	SNV	CLDN5,missense_variant,p.Cys192Tyr,ENST00000413119,;CLDN5,missense_variant,p.Cys192Tyr,ENST00000406028,;CLDN5,missense_variant,p.Cys192Tyr,ENST00000403084,;CDC45,downstream_gene_variant,,ENST00000407835,;CDC45,downstream_gene_variant,,ENST00000263201,;CDC45,downstream_gene_variant,,ENST00000404724,;CDC45,downstream_gene_variant,,ENST00000437685,;CDC45,downstream_gene_variant,,ENST00000493724,;	1636	65	76	SUCCESS
GRAMD4	23151	.	GRCh37	22	47059927	47059927	+	synonymous_variant	Silent	SNP	C	C	T	rs202227527	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	41	96	0	ENST00000361034.3:c.630C>T	p.Arg210=	p.R210=	ENST00000361034	NM_015124.3	210	cgC/cgT	0	.	T:0.0015	.	T:0	.	T	R	protein_coding	YES	CCDS33672.1	630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCGCGGTGC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR16122	T:0	.	ENSP00000385689	T:0	8/19	.	.	.	.	.	.	.	.	rs202227527	8/19	PASS	ENST00000406902	Transcript	.	T:0.0004	ENSG00000075240	29113	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	GRAM4_HUMAN	GRAMD4	HGNC	.	.	UPI0000161A59	SNV	GRAMD4,synonymous_variant,p.%3D,ENST00000456069,;GRAMD4,synonymous_variant,p.%3D,ENST00000406902,;GRAMD4,synonymous_variant,p.%3D,ENST00000361034,;	843	96	112	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125555843	125555843	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs753754823	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	25	116	0	ENST00000431078.1:c.3160C>T	p.Leu1054Phe	p.L1054F	ENST00000431078	NM_130773.3	1054	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS46401.1	3160	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGCTCTTT	NONE	.	.	PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000399013	.	19/24	.	.	.	.	.	.	.	.	rs753754823,COSM1527588	19/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.12)	.	tolerated(0.08)	0,1	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,missense_variant,p.Leu1054Phe,ENST00000431078,;	3524	116	99	SUCCESS
NCKAP5	344148	.	GRCh37	2	133542785	133542785	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs373241699	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	91	0	ENST00000409261.1:c.1599G>T	p.Arg533Ser	p.R533S	ENST00000409261	NM_207363.2	533	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS46418.1	1599	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCCTTTC	NONE	.	.	hmmpanther:PTHR21740:SF0,hmmpanther:PTHR21740	.	.	ENSP00000387128	.	14/20	.	.	.	.	.	.	.	.	.	14/20	PASS	ENST00000409261	Transcript	.	.	ENSG00000176771	29847	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	deleterious(0.03)	.	NCKP5_HUMAN	NCKAP5	HGNC	C9JYL7_HUMAN	.	UPI0000E07A3F	SNV	NCKAP5,missense_variant,p.Arg533Ser,ENST00000409261,;NCKAP5,missense_variant,p.Arg533Ser,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;	1973	91	81	SUCCESS
SCN1A	6323	.	GRCh37	2	166852580	166852580	+	synonymous_variant	Silent	SNP	A	A	G	rs778620898	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	54	152	0	ENST00000303395.4:c.4524T>C	p.Tyr1508=	p.Y1508=	ENST00000303395		1508	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS54413.1	4524	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTATAGTA	NONE	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Gene3D:1byyA00	.	.	ENSP00000303540	.	24/26	.	.	.	.	.	.	.	.	rs778620898,CM113341	24/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,synonymous_variant,p.%3D,ENST00000303395,;SCN1A,synonymous_variant,p.%3D,ENST00000375405,;SCN1A,synonymous_variant,p.%3D,ENST00000423058,;SCN1A,synonymous_variant,p.%3D,ENST00000409050,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000595647,;SCN1A,non_coding_transcript_exon_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;	4524	152	146	SUCCESS
FSIP2	401024	.	GRCh37	2	186670241	186670241	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	144	84	223	0	ENST00000424728.1:c.16208C>T	p.Ser5403Phe	p.S5403F	ENST00000424728		5403	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS54426.1	16475	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTCTTCCA	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Ser5492Phe,ENST00000343098,;FSIP2,missense_variant,p.Ser5403Phe,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	16475	223	228	SUCCESS
FAM179A	0	.	GRCh37	2	29222198	29222198	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	47	165	0	ENST00000379558.4:c.291G>C	p.Leu97Phe	p.L97F	ENST00000379558	NM_199280.2	97	ttG/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS1769.2	291	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTGTCTTT	NONE	.	.	.	.	.	ENSP00000368876	.	4/20	.	.	.	.	.	.	.	.	.	4/20	PASS	ENST00000379558	Transcript	.	.	ENSG00000189350	33715	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.878)	.	tolerated(0.09)	.	F179A_HUMAN	FAM179A	HGNC	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN	.	UPI00014F7B81	SNV	FAM179A,missense_variant,p.Leu97Phe,ENST00000403861,;FAM179A,missense_variant,p.Leu97Phe,ENST00000379558,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;	642	165	124	SUCCESS
SFXN5	94097	.	GRCh37	2	73250320	73250320	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	67	0	ENST00000272433.2:c.273G>A	p.Lys91=	p.K91=	ENST00000272433	NM_144579.2	91	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS1922.1	273	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGCTTGAT	NONE	.	.	hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF17,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820	.	.	ENSP00000272433	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000272433	Transcript	.	.	ENSG00000144040	16073	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFXN5_HUMAN	SFXN5	HGNC	.	.	UPI000006D292	SNV	SFXN5,synonymous_variant,p.%3D,ENST00000272433,;SFXN5,synonymous_variant,p.%3D,ENST00000411783,;SFXN5,synonymous_variant,p.%3D,ENST00000442582,;SFXN5,synonymous_variant,p.%3D,ENST00000410065,;SFXN5,non_coding_transcript_exon_variant,,ENST00000497144,;SFXN5,non_coding_transcript_exon_variant,,ENST00000416579,;SFXN5,non_coding_transcript_exon_variant,,ENST00000475630,;SFXN5,non_coding_transcript_exon_variant,,ENST00000487508,;SFXN5,non_coding_transcript_exon_variant,,ENST00000474528,;SFXN5,non_coding_transcript_exon_variant,,ENST00000479293,;SFXN5,non_coding_transcript_exon_variant,,ENST00000485057,;SFXN5,non_coding_transcript_exon_variant,,ENST00000461352,;SFXN5,non_coding_transcript_exon_variant,,ENST00000464825,;SFXN5,upstream_gene_variant,,ENST00000463277,;SFXN5,3_prime_UTR_variant,,ENST00000450185,;	404	67	37	SUCCESS
PVRL3	0	.	GRCh37	3	110837591	110837591	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	66	180	0	ENST00000485303.1:c.591T>G	p.Thr197=	p.T197=	ENST00000485303	NM_001243286.1	197	acT/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS2957.1	591	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTGGAAA	NONE	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF08205,Gene3D:2.60.40.10,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF10,PROSITE_profiles:PS50835	.	.	ENSP00000418070	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000485303	Transcript	.	.	ENSG00000177707	17664	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PVRL3_HUMAN	PVRL3	HGNC	.	.	UPI000004A2B6	SNV	PVRL3,synonymous_variant,p.%3D,ENST00000493615,;PVRL3,synonymous_variant,p.%3D,ENST00000319792,;PVRL3,synonymous_variant,p.%3D,ENST00000485303,;PVRL3,5_prime_UTR_variant,,ENST00000491525,;PVRL3,intron_variant,,ENST00000486596,;PVRL3,downstream_gene_variant,,ENST00000461477,;PVRL3,downstream_gene_variant,,ENST00000481766,;PVRL3,non_coding_transcript_exon_variant,,ENST00000470618,;	866	180	183	SUCCESS
FOXL2	668	.	GRCh37	3	138664910	138664910	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs104893741	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	246	165	465	0	ENST00000330315.3:c.655C>G	p.Gln219Glu	p.Q219E	ENST00000330315	NM_023067.3	219	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS3105.1	655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	pathogenic	CATCTGGCAGG	NONE	byCluster	.	hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF105	.	.	ENSP00000333188	.	1/1	.	.	.	.	.	.	.	.	CM010306,rs104893741	1/1	PASS	ENST00000330315	Transcript	.	.	ENSG00000183770	1092	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.042)	.	deleterious(0)	.	FOXL2_HUMAN	FOXL2	HGNC	Q53ZD3_HUMAN,Q4JHB7_HUMAN,Q4JHB5_HUMAN	.	UPI0000050DB3	SNV	FOXL2,missense_variant,p.Gln219Glu,ENST00000330315,;C3orf72,upstream_gene_variant,,ENST00000383165,;RP11-548O1.3,upstream_gene_variant,,ENST00000483650,;RP11-548O1.3,upstream_gene_variant,,ENST00000495287,;RP11-548O1.3,upstream_gene_variant,,ENST00000477059,;C3orf72,upstream_gene_variant,,ENST00000470680,;C3orf72,upstream_gene_variant,,ENST00000498709,;	1073	466	412	SUCCESS
ZFYVE20	0	.	GRCh37	3	15123877	15123877	+	synonymous_variant	Silent	SNP	G	G	A	rs372130779	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	5	68	0	ENST00000253699.3:c.837C>T	p.Tyr279=	p.Y279=	ENST00000253699	NM_022340.2	279	taC/taT	0	A:0	A:0.0008	.	A:0	.	A	Y	protein_coding	YES	CCDS2623.1	837	MUTECT|MUSE	.	ACCTCGTAGAG	NONE	byCluster|by1000G	.	Superfamily_domains:SSF57903,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510	A:0	A:0.0002	ENSP00000253699	A:0	9/14	.	.	.	.	.	.	.	.	rs372130779	9/14	PASS	ENST00000253699	Transcript	.	A:0.0002	ENSG00000131381	20759	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	RBNS5_HUMAN	ZFYVE20	HGNC	D6RD50_HUMAN	.	UPI0000051CE0	SNV	ZFYVE20,synonymous_variant,p.%3D,ENST00000253699,;ZFYVE20,synonymous_variant,p.%3D,ENST00000476527,;ZFYVE20,intron_variant,,ENST00000435849,;ZFYVE20,intron_variant,,ENST00000449964,;ZFYVE20,upstream_gene_variant,,ENST00000483098,;ZFYVE20,synonymous_variant,p.%3D,ENST00000426541,;ZFYVE20,downstream_gene_variant,,ENST00000441057,;ZFYVE20,downstream_gene_variant,,ENST00000463214,;	1451	68	76	SUCCESS
KIF9-AS1	285352	.	GRCh37	3	47281541	47281548	+	non_coding_transcript_exon_variant	RNA	DEL	ACTGGCTG	ACTGGCTG	-	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	ACTGGCTG	ACTGGCTG	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	37	0	ENST00000429315.3:n.1133_1140del		p.*378*	ENST00000429315				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2752.1	.	INDELOCATOR|VARSCANI	.	AGAACCACTGGCTGAGGGG	NONE	.	.	.	.	.	ENSP00000333942	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335044	Transcript	.	.	ENSG00000088727	16666	.	.	MODIFIER	17/20	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF9_HUMAN	KIF9	HGNC	.	.	UPI000012DE55	deletion	KIF9,intron_variant,,ENST00000265529,;KIF9,intron_variant,,ENST00000444589,;KIF9,intron_variant,,ENST00000352910,;KIF9,intron_variant,,ENST00000335044,;KIF9,intron_variant,,ENST00000452770,;KIF9-AS1,non_coding_transcript_exon_variant,,ENST00000429315,;KIF9,intron_variant,,ENST00000487440,;	.	37	19	SUCCESS
MAGI1	9223	.	GRCh37	3	65361605	65361605	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs763870274	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	72	0	ENST00000402939.2:c.3011C>A	p.Ala1004Asp	p.A1004D	ENST00000402939	NM_001033057.1	1004	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS33780.1	3011	MUTECT|MUSE	.	GCATAGCCACA	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF12,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000385450	.	18/23	.	.	.	.	.	.	.	.	rs763870274	18/23	PASS	ENST00000402939	Transcript	.	.	ENSG00000151276	946	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.991)	.	deleterious(0.04)	.	MAGI1_HUMAN	MAGI1	HGNC	.	.	UPI0000457132	SNV	MAGI1,missense_variant,p.Ala908Asp,ENST00000463103,;MAGI1,missense_variant,p.Ala791Asp,ENST00000472257,;MAGI1,missense_variant,p.Ala1004Asp,ENST00000402939,;MAGI1,missense_variant,p.Ala1032Asp,ENST00000330909,;MAGI1,missense_variant,p.Ala913Asp,ENST00000460329,;MAGI1,missense_variant,p.Ala1033Asp,ENST00000483466,;MAGI1,intron_variant,,ENST00000497477,;MAGI1,non_coding_transcript_exon_variant,,ENST00000480729,;MAGI1,downstream_gene_variant,,ENST00000468159,;	3011	72	48	SUCCESS
PITX2	5308	.	GRCh37	4	111543434	111543434	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	73	178	0	ENST00000354925.2:c.185-909C>A		p.*62*	ENST00000354925	NM_001204397.1	61		0	.	.	.	.	.	T	D/E	protein_coding	YES	CCDS3694.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTGTCGGA	NONE	.	.	hmmpanther:PTHR24329:SF287,hmmpanther:PTHR24329,PIRSF_domain:PIRSF000563	.	.	ENSP00000304169	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000306732	Transcript	1	.	ENSG00000164093	9005	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.96)	.	PITX2_HUMAN	PITX2	HGNC	.	.	UPI000002B122	SNV	PITX2,missense_variant,p.Asp61Glu,ENST00000557119,;PITX2,missense_variant,p.Asp61Glu,ENST00000306732,;PITX2,intron_variant,,ENST00000394598,;PITX2,intron_variant,,ENST00000394595,;PITX2,intron_variant,,ENST00000354925,;PITX2,intron_variant,,ENST00000511990,;PITX2,intron_variant,,ENST00000355080,;PITX2,intron_variant,,ENST00000511837,;PITX2,upstream_gene_variant,,ENST00000556049,;PITX2,upstream_gene_variant,,ENST00000607868,;	826	178	159	SUCCESS
FAM200B	285550	.	GRCh37	4	15688697	15688697	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	300	160	491	1	ENST00000422728.2:c.97G>A	p.Asp33Asn	p.D33N	ENST00000422728	NM_001145191.1	33	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS47028.1	97	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTGACAAT	NONE	.	.	.	.	.	ENSP00000393017	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000422728	Transcript	.	.	ENSG00000237765	27740	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.01)	.	tolerated_low_confidence(0.29)	.	F200B_HUMAN	FAM200B	HGNC	D6RAC6_HUMAN	.	UPI0000160C4C	SNV	FAM200B,missense_variant,p.Asp33Asn,ENST00000422728,;FAM200B,downstream_gene_variant,,ENST00000503617,;FAM200B,non_coding_transcript_exon_variant,,ENST00000515697,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504598,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504823,;FAM200B,non_coding_transcript_exon_variant,,ENST00000515430,;FAM200B,non_coding_transcript_exon_variant,,ENST00000506610,;FAM200B,non_coding_transcript_exon_variant,,ENST00000505260,;FAM200B,non_coding_transcript_exon_variant,,ENST00000502856,;FAM200B,non_coding_transcript_exon_variant,,ENST00000510186,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504137,;FAM200B,non_coding_transcript_exon_variant,,ENST00000507305,;FAM200B,non_coding_transcript_exon_variant,,ENST00000513053,;FAM200B,non_coding_transcript_exon_variant,,ENST00000508567,;FAM200B,non_coding_transcript_exon_variant,,ENST00000512855,;FAM200B,non_coding_transcript_exon_variant,,ENST00000510920,;FAM200B,non_coding_transcript_exon_variant,,ENST00000503600,;FAM200B,downstream_gene_variant,,ENST00000502502,;FAM200B,downstream_gene_variant,,ENST00000509022,;FAM200B,downstream_gene_variant,,ENST00000514803,;FAM200B,downstream_gene_variant,,ENST00000510032,;FAM200B,downstream_gene_variant,,ENST00000507992,;	935	492	460	SUCCESS
CEP135	9662	.	GRCh37	4	56865790	56865790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	300	149	438	1	ENST00000257287.4:c.2259G>T	p.Leu753Phe	p.L753F	ENST00000257287	NM_025009.4	753	ttG/ttT	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS33986.1	2259	RADIA|SOMATICSNIPER|VARSCANS	.	AATTTGCAAGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10	.	.	ENSP00000257287	.	17/26	.	.	.	.	.	.	.	.	.	17/26	PASS	ENST00000257287	Transcript	1	.	ENSG00000174799	29086	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.948)	.	tolerated(0.16)	.	CP135_HUMAN	CEP135	HGNC	.	.	UPI00003CE420	SNV	CEP135,missense_variant,p.Leu753Phe,ENST00000257287,;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	2383	440	449	SUCCESS
FTMT	94033	.	GRCh37	5	121187819	121187819	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	39	0	ENST00000321339.1:c.161C>A	p.Ser54Tyr	p.S54Y	ENST00000321339	NM_177478.1	54	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS4128.1	161	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTCCTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11431:SF30,hmmpanther:PTHR11431	.	.	ENSP00000313691	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321339	Transcript	.	.	ENSG00000181867	17345	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated(0.24)	.	FTMT_HUMAN	FTMT	HGNC	.	.	UPI000006F87E	SNV	FTMT,missense_variant,p.Ser54Tyr,ENST00000321339,;	170	39	48	SUCCESS
ANKHD1	54882	.	GRCh37	5	139908010	139908010	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	53	139	0	ENST00000360839.2:c.5479C>T	p.Pro1827Ser	p.P1827S	ENST00000360839	NM_017747.2	1827	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4224.1	5479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGCCCGCT	NONE	.	.	hmmpanther:PTHR23206	.	.	ENSP00000297183	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,missense_variant,p.Pro278Ser,ENST00000432301,;ANKHD1,missense_variant,p.Pro318Ser,ENST00000435794,;ANKHD1,missense_variant,p.Pro1827Ser,ENST00000360839,;ANKHD1,missense_variant,p.Pro210Ser,ENST00000544120,;ANKHD1,missense_variant,p.Pro1827Ser,ENST00000297183,;ANKHD1,missense_variant,p.Pro349Ser,ENST00000433049,;ANKHD1,missense_variant,p.Pro483Ser,ENST00000431508,;ANKHD1-EIF4EBP3,missense_variant,p.Pro1827Ser,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000412116,;ANKHD1,downstream_gene_variant,,ENST00000421134,;ANKHD1,downstream_gene_variant,,ENST00000246149,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000437495,;SNORD45,upstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000474060,;ANKHD1,upstream_gene_variant,,ENST00000475148,;	5603	139	132	SUCCESS
PCDHGA11	56105	.	GRCh37	5	140801283	140801283	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	33	116	0	ENST00000398587.2:c.489G>A	p.Val163=	p.V163=	ENST00000398587	NM_032092.1	163	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS47294.1	489	RADIA|MUTECT|MUSE	.	GATGTGGGCGT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF84,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000381589	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000398587	Transcript	.	.	ENSG00000253873	8698	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDGB_HUMAN	PCDHGA11	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI00000739DC	SNV	PCDHGA11,synonymous_variant,p.%3D,ENST00000398587,;PCDHGA11,synonymous_variant,p.%3D,ENST00000518882,;PCDHGB6,intron_variant,,ENST00000520790,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGA10,intron_variant,,ENST00000398610,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA8,intron_variant,,ENST00000398604,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB4,intron_variant,,ENST00000519479,;PCDHGB7,intron_variant,,ENST00000398594,;PCDHGA9,intron_variant,,ENST00000573521,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB8P,upstream_gene_variant,,ENST00000502926,;PCDHGB8P,upstream_gene_variant,,ENST00000507007,;	522	116	118	SUCCESS
FCHSD1	89848	.	GRCh37	5	141025733	141025733	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148738642	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	48	0	ENST00000435817.2:c.1070G>A	p.Arg357Gln	p.R357Q	ENST00000435817	NM_033449.2	357	cGg/cAg	0	.	T:0.0008	.	T:0	.	T	R/Q	protein_coding	YES	CCDS47295.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCCGCCTC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735	T:0.0079	.	ENSP00000399259	T:0	12/20	.	.	.	.	.	.	.	.	rs148738642	12/20	common_in_exac	ENST00000435817	Transcript	.	T:0.0018	ENSG00000197948	25463	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	T:0	tolerated(0.41)	.	FCSD1_HUMAN	FCHSD1	HGNC	.	.	UPI000000D903	SNV	FCHSD1,missense_variant,p.Arg357Gln,ENST00000435817,;FCHSD1,missense_variant,p.Arg40Gln,ENST00000518499,;FCHSD1,missense_variant,p.Arg281Gln,ENST00000522126,;FCHSD1,intron_variant,,ENST00000522783,;FCHSD1,downstream_gene_variant,,ENST00000519800,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;FCHSD1,downstream_gene_variant,,ENST00000522763,;FCHSD1,downstream_gene_variant,,ENST00000522386,;FCHSD1,upstream_gene_variant,,ENST00000518160,;FCHSD1,upstream_gene_variant,,ENST00000520747,;	1121	48	35	SUCCESS
GALNT10	55568	.	GRCh37	5	153570579	153570579	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	47	0	ENST00000297107.6:c.153G>A	p.Ala51=	p.A51=	ENST00000297107	NM_198321.3	51	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4325.1	153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGGACA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF41	.	.	ENSP00000297107	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000297107	Transcript	.	.	ENSG00000164574	19873	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLT10_HUMAN	GALNT10	HGNC	Q4G0E1_HUMAN,D3DQI7_HUMAN	.	UPI0000041292	SNV	GALNT10,synonymous_variant,p.%3D,ENST00000377661,;GALNT10,synonymous_variant,p.%3D,ENST00000425427,;GALNT10,synonymous_variant,p.%3D,ENST00000297107,;GALNT10,non_coding_transcript_exon_variant,,ENST00000521786,;GALNT10,non_coding_transcript_exon_variant,,ENST00000521781,;MFAP3,intron_variant,,ENST00000519325,;GALNT10,synonymous_variant,p.%3D,ENST00000520647,;	290	48	34	SUCCESS
ERGIC1	57222	.	GRCh37	5	172359459	172359459	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs140909162	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	23	64	0	ENST00000393784.3:c.562A>C	p.Ile188Leu	p.I188L	ENST00000393784	NM_001031711.2	188	Atc/Ctc	0	C:0	.	.	.	.	C	I/L	protein_coding	YES	CCDS34292.1	562	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACATCCTG	NONE	byCluster	.	hmmpanther:PTHR10984,Pfam_domain:PF07970	.	C:0.0001	ENSP00000377374	.	8/10	.	.	.	.	.	.	.	.	rs140909162	8/10	PASS	ENST00000393784	Transcript	.	.	ENSG00000113719	29205	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	tolerated(0.23)	.	ERGI1_HUMAN	ERGIC1	HGNC	.	.	UPI0000072178	SNV	ERGIC1,missense_variant,p.Ile188Leu,ENST00000393784,;ERGIC1,non_coding_transcript_exon_variant,,ENST00000523650,;ERGIC1,non_coding_transcript_exon_variant,,ENST00000521392,;ERGIC1,3_prime_UTR_variant,,ENST00000519796,;ERGIC1,non_coding_transcript_exon_variant,,ENST00000520399,;ERGIC1,upstream_gene_variant,,ENST00000523215,;	701	64	61	SUCCESS
B4GALT7	11285	.	GRCh37	5	177036620	177036620	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	43	129	0	ENST00000029410.5:c.908G>A	p.Gly303Asp	p.G303D	ENST00000029410	NM_007255.2	303	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS4429.1	908	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGCGGGG	NONE	.	.	hmmpanther:PTHR19300:SF1,hmmpanther:PTHR19300,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000029410	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000029410	Transcript	1	.	ENSG00000027847	930	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.511)	.	tolerated(1)	.	B4GT7_HUMAN	B4GALT7	HGNC	H0Y9D6_HUMAN,D6RDJ8_HUMAN,D6RA33_HUMAN,B3KMT1_HUMAN	.	UPI00000361E1	SNV	B4GALT7,missense_variant,p.Gly303Asp,ENST00000029410,;B4GALT7,downstream_gene_variant,,ENST00000505468,;B4GALT7,downstream_gene_variant,,ENST00000507061,;B4GALT7,downstream_gene_variant,,ENST00000510761,;RP11-1277A3.1,upstream_gene_variant,,ENST00000499900,;B4GALT7,3_prime_UTR_variant,,ENST00000505433,;B4GALT7,non_coding_transcript_exon_variant,,ENST00000505145,;B4GALT7,non_coding_transcript_exon_variant,,ENST00000515353,;B4GALT7,downstream_gene_variant,,ENST00000502420,;	1019	129	114	SUCCESS
RASA1	5921	.	GRCh37	5	86668007	86668007	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	42	137	0	ENST00000274376.6:c.1771C>G	p.Arg591Gly	p.R591G	ENST00000274376	NM_002890.2	591	Cgt/Ggt	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS34200.1	1771	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCGTCAG	NONE	.	.	hmmpanther:PTHR10194	.	.	ENSP00000274376	.	13/25	.	.	.	.	.	.	.	.	COSM3856758,COSM3856759	13/25	PASS	ENST00000274376	Transcript	1	.	ENSG00000145715	9871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.953)	.	deleterious(0.02)	1,1	RASA1_HUMAN	RASA1	HGNC	B4DTL8_HUMAN	.	UPI00001351F3	SNV	RASA1,missense_variant,p.Arg424Gly,ENST00000512763,;RASA1,missense_variant,p.Arg414Gly,ENST00000456692,;RASA1,missense_variant,p.Arg591Gly,ENST00000274376,;RASA1,missense_variant,p.Arg425Gly,ENST00000506290,;CTC-428H11.2,downstream_gene_variant,,ENST00000607486,;RASA1,3_prime_UTR_variant,,ENST00000515800,;RASA1,downstream_gene_variant,,ENST00000509953,;	2335	137	143	SUCCESS
RFESD	317671	.	GRCh37	5	94991973	94991973	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs774240868	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	78	0	ENST00000311364.4:c.434A>T	p.Tyr145Phe	p.Y145F	ENST00000311364	NM_173362.3	145	tAt/tTt	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS47248.1	593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATGCCA	NONE	.	.	hmmpanther:PTHR21496	.	.	ENSP00000413592	.	6/6	.	.	.	.	.	.	.	.	rs774240868	6/6	PASS	ENST00000458310	Transcript	.	.	ENSG00000175449	29587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.23)	.	RFESD_HUMAN	RFESD	HGNC	D6RBY0_HUMAN	.	UPI000066D9FA	SNV	RFESD,missense_variant,p.Tyr198Phe,ENST00000458310,;RFESD,missense_variant,p.Tyr145Phe,ENST00000311364,;RFESD,missense_variant,p.Tyr198Phe,ENST00000380005,;RFESD,3_prime_UTR_variant,,ENST00000513950,;SPATA9,downstream_gene_variant,,ENST00000274432,;RFESD,downstream_gene_variant,,ENST00000511684,;SPATA9,intron_variant,,ENST00000477047,;RFESD,upstream_gene_variant,,ENST00000508206,;SPATA9,downstream_gene_variant,,ENST00000379990,;SPATA9,intron_variant,,ENST00000316087,;SPATA9,intron_variant,,ENST00000477715,;RFESD,downstream_gene_variant,,ENST00000506212,;SPATA9,downstream_gene_variant,,ENST00000489917,;RFESD,downstream_gene_variant,,ENST00000504893,;	1924	78	64	SUCCESS
HSF2	3298	.	GRCh37	6	122744789	122744789	+	synonymous_variant	Silent	SNP	A	A	G	rs201391717	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	79	0	ENST00000368455.4:c.1134A>G	p.Leu378=	p.L378=	ENST00000368455	NM_004506.3	378	ctA/ctG	0	.	C:0	.	C:0	.	G	L	protein_coding	YES	CCDS5124.1	1134	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTATCAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR10015:SF144,hmmpanther:PTHR10015,Pfam_domain:PF06546	C:0	.	ENSP00000357440	C:0.001	10/13	.	.	.	.	.	.	.	.	rs201391717	10/13	PASS	ENST00000368455	Transcript	.	C:0.0002	ENSG00000025156	5225	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	HSF2_HUMAN	HSF2	HGNC	.	.	UPI000012CCE8	SNV	HSF2,synonymous_variant,p.%3D,ENST00000452194,;HSF2,synonymous_variant,p.%3D,ENST00000368455,;HSF2,synonymous_variant,p.%3D,ENST00000465214,;	1326	79	72	SUCCESS
NOS3	4846	.	GRCh37	7	150710398	150710405	+	frameshift_variant	Frame_Shift_Del	DEL	GAACGCCC	GAACGCCC	-	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	GAACGCCC	GAACGCCC	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	66	0	ENST00000297494.3:c.3186_3193del	p.Asn1063AlafsTer17	p.N1063Afs*17	ENST00000297494	NM_000603.4	1062	caGAACGCCCag/caag	0	.	.	.	.	.	-	QNAQ/QX	protein_coding	YES	CCDS5912.1	3186-3193	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGCAGAACGCCCAGCAG	NONE	.	.	hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Pfam_domain:PF00175,Gene3D:3.40.50.80,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52343,Prints_domain:PR00371	.	.	ENSP00000297494	.	25/27	.	.	.	.	.	.	.	.	.	25/27	PASS	ENST00000297494	Transcript	.	.	ENSG00000164867	7876	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOS3_HUMAN	NOS3	HGNC	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN	.	UPI000013E417	deletion	NOS3,frameshift_variant,p.Asn857AlafsTer17,ENST00000461406,;NOS3,frameshift_variant,p.Asn1063AlafsTer17,ENST00000297494,;ATG9B,3_prime_UTR_variant,,ENST00000444312,;ATG9B,3_prime_UTR_variant,,ENST00000605938,;ATG9B,3_prime_UTR_variant,,ENST00000377974,;NOS3,downstream_gene_variant,,ENST00000475017,;NOS3,non_coding_transcript_exon_variant,,ENST00000477227,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000486407,;NOS3,non_coding_transcript_exon_variant,,ENST00000468293,;ATG9B,downstream_gene_variant,,ENST00000476282,;ATG9B,upstream_gene_variant,,ENST00000498521,;ATG9B,downstream_gene_variant,,ENST00000464855,;ATG9B,downstream_gene_variant,,ENST00000473698,;NOS3,downstream_gene_variant,,ENST00000473057,;ATG9B,non_coding_transcript_exon_variant,,ENST00000404733,;NOS3,non_coding_transcript_exon_variant,,ENST00000475454,;ATG9B,downstream_gene_variant,,ENST00000471797,;ATG9B,downstream_gene_variant,,ENST00000469530,;	3543-3550	66	48	SUCCESS
PRKAG2	51422	.	GRCh37	7	151329170	151329170	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs397517281	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	42	0	ENST00000287878.4:c.739G>T	p.Glu247Ter	p.E247*	ENST00000287878	NM_016203.3	247	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS5928.1	739	MUTECT|MUSE|VARSCANS	likely_benign	GAACTCCAGCT	NONE	.	.	hmmpanther:PTHR13780:SF26,hmmpanther:PTHR13780	.	.	ENSP00000287878	.	5/16	.	.	.	.	.	.	.	.	rs397517281	5/16	PASS	ENST00000287878	Transcript	.	.	ENSG00000106617	9386	.	.	HIGH	.	PRIMARY	.	.	.	.	3	1	.	.	.	.	.	.	AAKG2_HUMAN	PRKAG2	HGNC	C9JUG1_HUMAN	.	UPI00001250B5	SNV	PRKAG2,stop_gained,p.Glu247Ter,ENST00000287878,;PRKAG2,stop_gained,p.Glu123Ter,ENST00000433631,;PRKAG2,stop_gained,p.Glu203Ter,ENST00000392801,;PRKAG2,stop_gained,p.Glu6Ter,ENST00000418337,;PRKAG2,stop_gained,p.Glu123Ter,ENST00000492843,;PRKAG2,stop_gained,p.Glu6Ter,ENST00000476632,;PRKAG2,stop_gained,p.Glu6Ter,ENST00000493872,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000483775,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000491938,;PRKAG2,intron_variant,,ENST00000488258,;	1244	42	41	SUCCESS
RIMS2	9699	.	GRCh37	8	105025746	105025746	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs576037956	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	44	182	0	ENST00000406091.3:c.3121A>G	p.Thr1041Ala	p.T1041A	ENST00000406091	NM_001100117.2	1041	Acc/Gcc	0	.	G:0	.	G:0	.	G	T/A	protein_coding	YES	CCDS55269.1	3121	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCACCACC	NONE	byFrequency|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	G:0.005	.	ENSP00000384892	G:0	18/24	.	.	.	.	.	.	.	.	rs576037956	18/24	PASS	ENST00000406091	Transcript	.	G:0.0010	ENSG00000176406	17283	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	G:0	tolerated_low_confidence(0.42)	.	RIMS2_HUMAN	RIMS2	HGNC	E9PFB6_HUMAN	.	UPI0001597063	SNV	RIMS2,missense_variant,p.Thr1041Ala,ENST00000406091,;RIMS2,missense_variant,p.Thr855Ala,ENST00000408894,;RIMS2,missense_variant,p.Thr1041Ala,ENST00000504942,;RIMS2,missense_variant,p.Thr855Ala,ENST00000507740,;RIMS2,missense_variant,p.Thr880Ala,ENST00000262231,;RIMS2,intron_variant,,ENST00000436393,;	3121	182	151	SUCCESS
CSMD3	114788	.	GRCh37	8	114449230	114449230	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	8	0	ENST00000297405.5:c.-147C>T		p.*49*	ENST00000297405	NM_198123.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE	.	ACGGGGGCACA	NONE	.	.	.	.	.	ENSP00000297405	.	1/71	.	.	.	.	.	.	.	.	.	1/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,5_prime_UTR_variant,,ENST00000352409,;CSMD3,5_prime_UTR_variant,,ENST00000297405,;CSMD3,upstream_gene_variant,,ENST00000455883,;CSMD3,upstream_gene_variant,,ENST00000497026,;CSMD3,upstream_gene_variant,,ENST00000493303,;	99	8	13	SUCCESS
ZHX1	11244	.	GRCh37	8	124266377	124266377	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	28	84	0	ENST00000297857.2:c.1810C>G	p.Gln604Glu	p.Q604E	ENST00000297857		604	Caa/Gaa	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS6342.1	1810	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTGTGCCC	NONE	.	.	PROSITE_profiles:PS50071,hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	.	.	ENSP00000378938	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000395571	Transcript	.	.	ENSG00000165156	12871	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	ZHX1_HUMAN	ZHX1	HGNC	.	.	UPI000007404F	SNV	ZHX1,missense_variant,p.Gln604Glu,ENST00000395571,;ZHX1,missense_variant,p.Gln604Glu,ENST00000522655,;ZHX1,missense_variant,p.Gln604Glu,ENST00000297857,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000480132,;ZHX1,downstream_gene_variant,,ENST00000524267,;	2428	84	75	SUCCESS
DOCK5	80005	.	GRCh37	8	25240239	25240239	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	37	124	0	ENST00000276440.7:c.4076A>G	p.Gln1359Arg	p.Q1359R	ENST00000276440	NM_024940.6	1359	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS6047.1	4076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGCCTG	NONE	.	.	PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF68,hmmpanther:PTHR23317	.	.	ENSP00000276440	.	40/52	.	.	.	.	.	.	.	.	.	40/52	PASS	ENST00000276440	Transcript	.	.	ENSG00000147459	23476	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.013)	.	tolerated(0.07)	.	DOCK5_HUMAN	DOCK5	HGNC	.	.	UPI000022D4F3	SNV	DOCK5,missense_variant,p.Gln1359Arg,ENST00000276440,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;	4120	124	68	SUCCESS
SVEP1	79987	.	GRCh37	9	113170387	113170387	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	74	0	ENST00000374469.1:c.7424G>A	p.Cys2475Tyr	p.C2475Y	ENST00000374469		2475	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS48004.1	7493	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCACTCA	NONE	.	.	Superfamily_domains:SSF57535,Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50923	.	.	ENSP00000384917	.	38/48	.	.	.	.	.	.	.	.	.	38/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.Cys2498Tyr,ENST00000401783,;SVEP1,missense_variant,p.Cys2475Tyr,ENST00000374469,;SVEP1,missense_variant,p.Cys424Tyr,ENST00000297826,;	7830	74	59	SUCCESS
REXO4	57109	.	GRCh37	9	136272184	136272184	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs1554779024	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	15	37	0	ENST00000371942.3:c.1162C>T	p.Gln388Ter	p.Q388*	ENST00000371942	NM_001279350.1	388	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS6969.1	1162	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTGGGCAT	NONE	.	.	hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF49,Gene3D:3.30.420.10,Pfam_domain:PF00929,SMART_domains:SM00479,Superfamily_domains:SSF53098	.	.	ENSP00000361010	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000371942	Transcript	.	.	ENSG00000148300	12820	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REXO4_HUMAN	REXO4	HGNC	B4E331_HUMAN,B4DJ95_HUMAN	.	UPI00000373DC	SNV	REXO4,stop_gained,p.Gln216Ter,ENST00000371935,;REXO4,stop_gained,p.Gln216Ter,ENST00000454825,;REXO4,stop_gained,p.Gln388Ter,ENST00000371942,;C9orf96,downstream_gene_variant,,ENST00000371955,;C9orf96,downstream_gene_variant,,ENST00000371957,;REXO4,downstream_gene_variant,,ENST00000494045,;	1362	37	23	SUCCESS
PRUNE2	158471	.	GRCh37	9	79319694	79319694	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	32	132	0	ENST00000376718.3:c.7496A>C	p.Asp2499Ala	p.D2499A	ENST00000376718	NM_015225.2	2499	gAc/gCc	0	.	.	.	.	.	G	D/A	protein_coding	YES	CCDS47982.1	7496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATGTCTCCA	NONE	.	.	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	.	.	ENSP00000365908	.	8/19	.	.	.	.	.	.	.	.	.	8/19	PASS	ENST00000376718	Transcript	.	.	ENSG00000106772	25209	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.382)	.	tolerated(0.14)	.	PRUN2_HUMAN	PRUNE2	HGNC	.	.	UPI0001612CC0	SNV	PRUNE2,missense_variant,p.Asp1821Ala,ENST00000426088,;PRUNE2,missense_variant,p.Asp2499Ala,ENST00000376718,;PRUNE2,missense_variant,p.Asp2140Ala,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	7620	132	71	SUCCESS
STAG2	10735	.	GRCh37	X	123197040	123197040	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	253	116	341	0	ENST00000218089.9:c.1806T>C	p.Thr602=	p.T602=	ENST00000218089	NM_001042749.1	602	acT/acC	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS43990.1	1806	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACTGGACG	NONE	.	.	hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	.	.	ENSP00000218089	.	19/35	.	.	.	.	.	.	.	.	.	19/35	PASS	ENST00000218089	Transcript	.	.	ENSG00000101972	11355	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAG2_HUMAN	STAG2	HGNC	B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN	.	UPI00004A3A8A	SNV	STAG2,synonymous_variant,p.%3D,ENST00000371160,;STAG2,synonymous_variant,p.%3D,ENST00000354548,;STAG2,synonymous_variant,p.%3D,ENST00000371157,;STAG2,synonymous_variant,p.%3D,ENST00000371144,;STAG2,synonymous_variant,p.%3D,ENST00000218089,;STAG2,synonymous_variant,p.%3D,ENST00000371145,;STAG2,downstream_gene_variant,,ENST00000455404,;STAG2,non_coding_transcript_exon_variant,,ENST00000466748,;STAG2,non_coding_transcript_exon_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;STAG2,downstream_gene_variant,,ENST00000483575,;	2316	341	369	SUCCESS
TAB3	257397	.	GRCh37	X	30873586	30873586	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	160	0	ENST00000378933.1:c.196A>T	p.Met66Leu	p.M66L	ENST00000378933	NM_152787.3	66	Atg/Ttg	0	.	.	.	.	.	A	M/L	protein_coding	YES	CCDS14226.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATCCTAT	NONE	.	.	hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351	.	.	ENSP00000368215	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000378933	Transcript	.	.	ENSG00000157625	30681	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(1)	.	TAB3_HUMAN	TAB3	HGNC	.	.	UPI000013DF10	SNV	TAB3,missense_variant,p.Met66Leu,ENST00000378930,;TAB3,missense_variant,p.Met66Leu,ENST00000288422,;TAB3,missense_variant,p.Met66Leu,ENST00000378932,;TAB3,missense_variant,p.Met66Leu,ENST00000378933,;TAB3,upstream_gene_variant,,ENST00000378928,;TAB3-AS2,downstream_gene_variant,,ENST00000445240,;TAB3,missense_variant,p.Met66Leu,ENST00000467136,;	374	160	152	SUCCESS
FAM160B1	0	.	GRCh37	10	116603573	116603573	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	91	0	ENST00000369248.4:c.890A>G	p.Lys297Arg	p.K297R	ENST00000369248	NM_020940.3	297	aAg/aGg	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS31290.1	890	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAAGTGCC	NONE	.	.	Pfam_domain:PF10257,hmmpanther:PTHR21705:SF2,hmmpanther:PTHR21705	.	.	ENSP00000358251	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000369248	Transcript	.	.	ENSG00000151553	29320	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.008)	.	tolerated(0.34)	.	F16B1_HUMAN	FAM160B1	HGNC	.	.	UPI0000160B10	SNV	FAM160B1,missense_variant,p.Lys297Arg,ENST00000369248,;FAM160B1,missense_variant,p.Lys297Arg,ENST00000369250,;	1225	91	63	SUCCESS
PPAPDC1A	0	.	GRCh37	10	122263103	122263103	+	intron_variant	Intron	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	17	131	0	ENST00000398250.1:c.57-227G>C		p.*19*	ENST00000398250	NM_001030059.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41573.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGGTCCT	NONE	.	.	.	.	.	ENSP00000381302	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398250	Transcript	.	.	ENSG00000203805	23531	.	.	MODIFIER	1/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPC1A_HUMAN	PPAPDC1A	HGNC	.	.	UPI00001619F5	SNV	PPAPDC1A,missense_variant,p.Gly5Arg,ENST00000369073,;PPAPDC1A,intron_variant,,ENST00000541332,;PPAPDC1A,intron_variant,,ENST00000398248,;PPAPDC1A,intron_variant,,ENST00000398250,;PPAPDC1A,intron_variant,,ENST00000427079,;PPAPDC1A,intron_variant,,ENST00000439221,;	.	131	99	SUCCESS
KNDC1	85442	.	GRCh37	10	135009312	135009312	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	17	91	0	ENST00000304613.3:c.1721C>A	p.Ala574Asp	p.A574D	ENST00000304613		574	gCt/gAt	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS7674.1	1721	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGCTGAGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00750,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS51377,Low_complexity_(Seg):seg	.	.	ENSP00000304437	.	10/30	.	.	.	.	.	.	.	.	.	10/30	PASS	ENST00000304613	Transcript	.	.	ENSG00000171798	29374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.401)	.	deleterious(0.05)	.	VKIND_HUMAN	KNDC1	HGNC	B4DFN0_HUMAN	.	UPI00003529F7	SNV	KNDC1,missense_variant,p.Ala509Asp,ENST00000368571,;KNDC1,missense_variant,p.Ala574Asp,ENST00000304613,;KNDC1,missense_variant,p.Ala574Asp,ENST00000368572,;	1742	91	96	SUCCESS
OTUD1	220213	.	GRCh37	10	23729363	23729363	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	68	0	ENST00000376495.3:c.977G>C	p.Ser326Thr	p.S326T	ENST00000376495	NM_001145373.2	326	aGc/aCc	0	.	.	.	.	.	C	S/T	protein_coding	YES	CCDS44366.1	977	MUTECT|MUSE	.	TGTCAGCAAGA	NONE	.	.	Superfamily_domains:SSF54001,Pfam_domain:PF02338,hmmpanther:PTHR12419:SF2,hmmpanther:PTHR12419,PROSITE_profiles:PS50802	.	.	ENSP00000365678	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000376495	Transcript	.	.	ENSG00000165312	27346	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.955)	.	tolerated(0.11)	.	OTUD1_HUMAN	OTUD1	HGNC	.	.	UPI0000458A32	SNV	OTUD1,missense_variant,p.Ser326Thr,ENST00000376495,;	1166	68	73	SUCCESS
PRF1	5551	.	GRCh37	10	72357836	72357836	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	47	0	ENST00000373209.2:c.1641A>C	p.Pro547=	p.P547=	ENST00000373209		547	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS7305.1	1641	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTGGAGG	NONE	.	.	hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF3	.	.	ENSP00000398568	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000441259	Transcript	1	.	ENSG00000180644	9360	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PERF_HUMAN	PRF1	HGNC	S5S2F2_HUMAN,S5RDP5_HUMAN	.	UPI000013162B	SNV	PRF1,synonymous_variant,p.%3D,ENST00000373209,;PRF1,synonymous_variant,p.%3D,ENST00000441259,;	1802	47	48	SUCCESS
SFMBT2	57713	.	GRCh37	10	7318928	7318928	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs778308051	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	63	0	ENST00000361972.4:c.796T>A	p.Ser266Thr	p.S266T	ENST00000361972	NM_001018039.1	266	Tct/Act	0	.	.	.	.	.	T	S/T	protein_coding	YES	CCDS31138.1	796	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGAGGCCA	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000355109	.	7/21	.	.	.	.	.	.	.	.	rs778308051	7/21	PASS	ENST00000361972	Transcript	.	.	ENSG00000198879	20256	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.29)	.	SMBT2_HUMAN	SFMBT2	HGNC	.	.	UPI00001C1EDF	SNV	SFMBT2,missense_variant,p.Ser266Thr,ENST00000361972,;SFMBT2,missense_variant,p.Ser266Thr,ENST00000397167,;	887	63	64	SUCCESS
SYNPO2L	79933	.	GRCh37	10	75407632	75407632	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1378102534	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	11	108	0	ENST00000394810.2:c.1778G>A	p.Arg593His	p.R593H	ENST00000394810	NM_001114133.1	593	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS44438.1	1778	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCGCGCA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24217:SF10,hmmpanther:PTHR24217	.	.	ENSP00000378289	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000394810	Transcript	.	.	ENSG00000166317	23532	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.004)	.	tolerated(0.14)	.	SYP2L_HUMAN	SYNPO2L	HGNC	U3KQD0_HUMAN	.	UPI000042704D	SNV	SYNPO2L,missense_variant,p.Arg369His,ENST00000372873,;SYNPO2L,missense_variant,p.Arg593His,ENST00000394810,;	1928	108	76	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103060402	103060402	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	7	66	0	ENST00000375735.2:c.7294T>C	p.Tyr2432His	p.Y2432H	ENST00000375735	NM_001080463.1	2432	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS44717.1	7294	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTTACCCA	NONE	.	.	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Gene3D:3.40.50.300,Pfam_domain:PF12775,Superfamily_domains:SSF52540	.	.	ENSP00000381167	.	45/90	.	.	.	.	.	.	.	.	.	45/90	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.849)	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,missense_variant,p.Tyr2432His,ENST00000398093,;DYNC2H1,missense_variant,p.Tyr2432His,ENST00000375735,;DYNC2H1,intron_variant,,ENST00000334267,;	7294	66	76	SUCCESS
KMT2A	4297	.	GRCh37	11	118376851	118376851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	18	99	0	ENST00000534358.1:c.10244C>T	p.Ser3415Leu	p.S3415L	ENST00000534358	NM_005933.3	3415	tCa/tTa	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS55791.1	10244	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCACAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF302,hmmpanther:PTHR22884,PIRSF_domain:PIRSF010354	.	.	ENSP00000436786	.	27/36	.	.	.	.	.	.	.	.	.	27/36	PASS	ENST00000534358	Transcript	.	.	ENSG00000118058	7132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	.	.	KMT2A_HUMAN	KMT2A	HGNC	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN	.	UPI0001E5E732	SNV	KMT2A,missense_variant,p.Ser3412Leu,ENST00000389506,;KMT2A,missense_variant,p.Ser3374Leu,ENST00000354520,;KMT2A,missense_variant,p.Ser3415Leu,ENST00000534358,;KMT2A,upstream_gene_variant,,ENST00000534085,;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534678,;	10267	99	83	SUCCESS
DDX6	1656	.	GRCh37	11	118650350	118650350	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	44	270	0	ENST00000526070.2:c.360T>A	p.Ser120=	p.S120=	ENST00000526070	NM_001257191.1	120	tcT/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS44751.1	360	RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGAGATGG	NONE	.	.	PROSITE_profiles:PS51195,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF214,Gene3D:3.40.50.300,SMART_domains:SM00487	.	.	ENSP00000264018	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000264018	Transcript	.	.	ENSG00000110367	2747	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDX6_HUMAN	DDX6	HGNC	B2R858_HUMAN	.	UPI000013D4A2	SNV	DDX6,synonymous_variant,p.%3D,ENST00000526070,;DDX6,synonymous_variant,p.%3D,ENST00000264018,;DDX6,synonymous_variant,p.%3D,ENST00000534980,;DDX6,intron_variant,,ENST00000525082,;DDX6,downstream_gene_variant,,ENST00000531971,;	666	270	246	SUCCESS
PRDM11	56981	.	GRCh37	11	45246411	45246411	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	36	0	ENST00000530656.1:c.1488G>A	p.Met496Ile	p.M496I	ENST00000530656		496	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS58130.1	1386	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGAGATT	NONE	.	.	hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF3	.	.	ENSP00000394314	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000424263	Transcript	.	.	ENSG00000019485	13996	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.58)	.	PRD11_HUMAN	PRDM11	HGNC	E9PJ09_HUMAN	.	UPI000013FA3F	SNV	PRDM11,missense_variant,p.Met496Ile,ENST00000530656,;PRDM11,missense_variant,p.Met496Ile,ENST00000263765,;PRDM11,missense_variant,p.Met462Ile,ENST00000424263,;CTD-2560E9.3,intron_variant,,ENST00000527450,;PRDM11,intron_variant,,ENST00000528980,;	1631	36	29	SUCCESS
PTPRJ	5795	.	GRCh37	11	48142579	48142579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	64	189	0	ENST00000418331.2:c.377A>G	p.Lys126Arg	p.K126R	ENST00000418331	NM_002843.3	126	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS7945.1	377	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTAAAGCTG	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211,PROSITE_profiles:PS50853	.	.	ENSP00000400010	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000418331	Transcript	.	.	ENSG00000149177	9673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.405)	.	tolerated(0.27)	.	PTPRJ_HUMAN	PTPRJ	HGNC	Q9NPR5_HUMAN	.	UPI00004564C8	SNV	PTPRJ,missense_variant,p.Lys126Arg,ENST00000440289,;PTPRJ,missense_variant,p.Lys126Arg,ENST00000418331,;PTPRJ,missense_variant,p.Lys47Arg,ENST00000534219,;PTPRJ,intron_variant,,ENST00000527952,;PTPRJ,non_coding_transcript_exon_variant,,ENST00000526550,;	729	189	154	SUCCESS
PRPF19	27339	.	GRCh37	11	60670109	60670109	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	22	151	0	ENST00000227524.4:c.408A>G	p.Pro136=	p.P136=	ENST00000227524	NM_014502.4	136	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS7995.1	408	RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTGGTTT	NONE	.	.	hmmpanther:PTHR13889	.	.	ENSP00000227524	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000227524	Transcript	.	.	ENSG00000110107	17896	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRP19_HUMAN	PRPF19	HGNC	F5H2I0_HUMAN	.	UPI000003F659	SNV	PRPF19,synonymous_variant,p.%3D,ENST00000546152,;PRPF19,synonymous_variant,p.%3D,ENST00000541371,;PRPF19,synonymous_variant,p.%3D,ENST00000227524,;PRPF19,upstream_gene_variant,,ENST00000535326,;PRPF19,upstream_gene_variant,,ENST00000540473,;RP11-881M11.2,upstream_gene_variant,,ENST00000544421,;PRPF19,upstream_gene_variant,,ENST00000539960,;PRPF19,upstream_gene_variant,,ENST00000539180,;	614	151	149	SUCCESS
CDHR5	53841	.	GRCh37	11	621353	621353	+	synonymous_variant	Silent	SNP	G	G	A	rs1564898767	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	66	0	ENST00000358353.3:c.610C>T	p.Leu204=	p.L204=	ENST00000358353		204	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS7707.1	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCAGCAGCC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF121,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	.	.	ENSP00000351118	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000358353	Transcript	.	.	ENSG00000099834	7521	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR5_HUMAN	CDHR5	HGNC	.	.	UPI0000456444	SNV	CDHR5,synonymous_variant,p.%3D,ENST00000526077,;CDHR5,synonymous_variant,p.%3D,ENST00000397542,;CDHR5,synonymous_variant,p.%3D,ENST00000349570,;CDHR5,synonymous_variant,p.%3D,ENST00000358353,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;CDHR5,non_coding_transcript_exon_variant,,ENST00000531899,;	933	66	72	SUCCESS
CDC42BPG	55561	.	GRCh37	11	64600763	64600763	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs878925562	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	100	0	ENST00000342711.5:c.2671A>G	p.Lys891Glu	p.K891E	ENST00000342711	NM_017525.2	891	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS31601.1	2671	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTTGGTCG	NONE	.	.	PROSITE_profiles:PS50081,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889	.	.	ENSP00000345133	.	24/37	.	.	.	.	.	.	.	.	.	24/37	PASS	ENST00000342711	Transcript	.	.	ENSG00000171219	29829	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MRCKG_HUMAN	CDC42BPG	HGNC	.	.	UPI000047C9E2	SNV	CDC42BPG,missense_variant,p.Lys891Glu,ENST00000342711,;CDC42BPG,non_coding_transcript_exon_variant,,ENST00000468512,;CDC42BPG,upstream_gene_variant,,ENST00000491280,;CDC42BPG,non_coding_transcript_exon_variant,,ENST00000480767,;	2671	100	83	SUCCESS
CCS	9973	.	GRCh37	11	66367109	66367109	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	77	189	0	ENST00000533244.1:c.428+2T>C		p.X143_splice	ENST00000533244	NM_005125.1	143		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8146.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGTGAGTT	NONE	.	.	.	.	.	ENSP00000436318	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000533244	Transcript	.	.	ENSG00000173992	1613	.	.	HIGH	4/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCS_HUMAN	CCS	HGNC	J3KNF4_HUMAN,E9PP76_HUMAN	.	UPI0000127323	SNV	CCS,splice_donor_variant,,ENST00000310190,;CCS,splice_donor_variant,,ENST00000533244,;CCS,upstream_gene_variant,,ENST00000534763,;CCS,splice_donor_variant,,ENST00000530961,;CCS,splice_donor_variant,,ENST00000531990,;CCS,splice_donor_variant,,ENST00000530384,;CCS,non_coding_transcript_exon_variant,,ENST00000526066,;CCS,downstream_gene_variant,,ENST00000526058,;CCS,upstream_gene_variant,,ENST00000525435,;	.	189	183	SUCCESS
ARHGEF17	9828	.	GRCh37	11	73068372	73068372	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	89	0	ENST00000263674.3:c.4087G>C	p.Gly1363Arg	p.G1363R	ENST00000263674	NM_014786.3	1363	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS8221.1	4087	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAGGTGGG	NONE	.	.	hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877	.	.	ENSP00000263674	.	9/21	.	.	.	.	.	.	.	.	.	9/21	PASS	ENST00000263674	Transcript	.	.	ENSG00000110237	21726	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.798)	.	deleterious(0.01)	.	ARHGH_HUMAN	ARHGEF17	HGNC	.	.	UPI000004980B	SNV	ARHGEF17,missense_variant,p.Gly1363Arg,ENST00000263674,;AP002761.1,downstream_gene_variant,,ENST00000582555,;ARHGEF17,downstream_gene_variant,,ENST00000536170,;ARHGEF17,downstream_gene_variant,,ENST00000537198,;	4437	89	70	SUCCESS
OLR1	4973	.	GRCh37	12	10312560	10312560	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	26	60	0	ENST00000309539.3:c.741A>G	p.Gln247=	p.Q247=	ENST00000309539	NM_002543.3	247	caA/caG	0	.	.	.	.	.	C	Q	protein_coding	YES	CCDS8618.1	741	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGTTGTAT	NONE	.	.	PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF146,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	.	.	ENSP00000309124	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000309539	Transcript	.	.	ENSG00000173391	8133	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLR1_HUMAN	OLR1	HGNC	J3QTI8_HUMAN,F5H7N8_HUMAN,F5H3G7_HUMAN,F5H0N6_HUMAN,F5H001_HUMAN	.	UPI000004A917	SNV	OLR1,synonymous_variant,p.%3D,ENST00000539518,;OLR1,synonymous_variant,p.%3D,ENST00000309539,;OLR1,splice_region_variant,,ENST00000544577,;OLR1,3_prime_UTR_variant,,ENST00000432556,;OLR1,3_prime_UTR_variant,,ENST00000543993,;OLR1,3_prime_UTR_variant,,ENST00000545927,;OLR1,downstream_gene_variant,,ENST00000538873,;OLR1,downstream_gene_variant,,ENST00000538745,;OLR1,downstream_gene_variant,,ENST00000543414,;OLR1,downstream_gene_variant,,ENST00000339968,;OLR1,non_coding_transcript_exon_variant,,ENST00000536989,;	802	61	55	SUCCESS
TXNRD1	7296	.	GRCh37	12	104682706	104682706	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	45	95	0	ENST00000525566.1:c.305-3C>A		p.X102_splice	ENST00000525566	NM_001093771.2	102		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53820.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACACAGAGG	NONE	.	.	.	.	.	ENSP00000434516	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000525566	Transcript	.	.	ENSG00000198431	12437	.	.	LOW	3/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRXR1_HUMAN	TXNRD1	HGNC	F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN	.	UPI00015294EE	SNV	TXNRD1,missense_variant,p.Thr50Lys,ENST00000378070,;TXNRD1,splice_region_variant,,ENST00000388854,;TXNRD1,splice_region_variant,,ENST00000529546,;TXNRD1,splice_region_variant,,ENST00000526691,;TXNRD1,splice_region_variant,,ENST00000524698,;TXNRD1,splice_region_variant,,ENST00000526266,;TXNRD1,splice_region_variant,,ENST00000526390,;TXNRD1,splice_region_variant,,ENST00000429002,;TXNRD1,splice_region_variant,,ENST00000531691,;TXNRD1,splice_region_variant,,ENST00000528079,;TXNRD1,splice_region_variant,,ENST00000503506,;TXNRD1,splice_region_variant,,ENST00000525566,;TXNRD1,splice_region_variant,,ENST00000529784,;TXNRD1,splice_region_variant,,ENST00000542918,;TXNRD1,splice_region_variant,,ENST00000540716,;TXNRD1,splice_region_variant,,ENST00000531689,;TXNRD1,5_prime_UTR_variant,,ENST00000527335,;TXNRD1,intron_variant,,ENST00000526580,;TXNRD1,intron_variant,,ENST00000354940,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,upstream_gene_variant,,ENST00000397736,;TXNRD1,downstream_gene_variant,,ENST00000526006,;TXNRD1,splice_region_variant,,ENST00000526207,;TXNRD1,5_prime_UTR_variant,,ENST00000527688,;	.	95	99	SUCCESS
ASCL4	121549	.	GRCh37	12	108168997	108168997	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	57	156	0	ENST00000342331.4:c.5T>C	p.Met2Thr	p.M2T	ENST00000342331	NM_203436.2	2	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS31894.2	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATGGAGA	BUFFER|p.T4M|c.11C>T|3	.	.	.	.	.	ENSP00000345420	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342331	Transcript	.	.	ENSG00000187855	24311	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious_low_confidence(0)	.	ASCL4_HUMAN	ASCL4	HGNC	.	.	UPI00001973FA	SNV	ASCL4,missense_variant,p.Met2Thr,ENST00000342331,;	836	156	137	SUCCESS
UNC119B	84747	.	GRCh37	12	121154759	121154759	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	4	118	0	ENST00000344651.4:c.557T>G	p.Phe186Cys	p.F186C	ENST00000344651	NM_001080533.2	186	tTt/tGt	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS31914.1	557	MUTECT|MUSE	.	AAACTTTGACT	NONE	.	.	hmmpanther:PTHR12951:SF3,hmmpanther:PTHR12951,Pfam_domain:PF05351,Gene3D:1kshB00,Superfamily_domains:SSF81296	.	.	ENSP00000344942	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000344651	Transcript	.	.	ENSG00000175970	16488	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	U119B_HUMAN	UNC119B	HGNC	.	.	UPI00001FBCE1	SNV	UNC119B,missense_variant,p.Phe186Cys,ENST00000344651,;RP11-173P15.5,downstream_gene_variant,,ENST00000544939,;UNC119B,downstream_gene_variant,,ENST00000539658,;	597	118	99	SUCCESS
NCOR2	9612	.	GRCh37	12	124821697	124821697	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1196263716	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	144	0	ENST00000405201.1:c.5717C>T	p.Pro1906Leu	p.P1906L	ENST00000405201		1906	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS41858.2	5717	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCCGGGCGA	NONE	.	.	hmmpanther:PTHR13992:SF21,hmmpanther:PTHR13992	.	.	ENSP00000384018	.	38/47	.	.	.	.	.	.	.	.	.	38/47	PASS	ENST00000405201	Transcript	.	.	ENSG00000196498	7673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.048)	.	.	.	.	NCOR2	HGNC	C9JFD3_HUMAN,C9J330_HUMAN	.	UPI000013D737	SNV	NCOR2,missense_variant,p.Pro1913Leu,ENST00000356219,;NCOR2,missense_variant,p.Pro141Leu,ENST00000440187,;NCOR2,missense_variant,p.Pro1467Leu,ENST00000404121,;NCOR2,missense_variant,p.Pro1896Leu,ENST00000429285,;NCOR2,missense_variant,p.Pro1906Leu,ENST00000405201,;NCOR2,missense_variant,p.Pro1896Leu,ENST00000404621,;NCOR2,missense_variant,p.Pro1897Leu,ENST00000397355,;NCOR2,downstream_gene_variant,,ENST00000453428,;NCOR2,upstream_gene_variant,,ENST00000418829,;NCOR2,upstream_gene_variant,,ENST00000443451,;NCOR2,upstream_gene_variant,,ENST00000440337,;NCOR2,upstream_gene_variant,,ENST00000474079,;NCOR2,upstream_gene_variant,,ENST00000461081,;	5718	144	99	SUCCESS
PTPRO	5800	.	GRCh37	12	15656872	15656872	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	56	0	ENST00000281171.4:c.1136A>G	p.Glu379Gly	p.E379G	ENST00000281171	NM_030667.2	379	gAa/gGa	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS8675.1	1136	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGAAGAAG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251	.	.	ENSP00000281171	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000281171	Transcript	.	.	ENSG00000151490	9678	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0.03)	.	PTPRO_HUMAN	PTPRO	HGNC	B4DS16_HUMAN	.	UPI000013DC62	SNV	PTPRO,missense_variant,p.Glu379Gly,ENST00000348962,;PTPRO,missense_variant,p.Glu379Gly,ENST00000543886,;PTPRO,missense_variant,p.Glu379Gly,ENST00000281171,;	1466	57	41	SUCCESS
PDE3A	5139	.	GRCh37	12	20769307	20769307	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	96	0	ENST00000359062.3:c.1413A>G	p.Ala471=	p.A471=	ENST00000359062	NM_001244683.1	471	gcA/gcG	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS31754.1	1413	MUTECT|MUSE	.	GAAGCACCTTC	NONE	.	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347	.	.	ENSP00000351957	.	4/16	.	.	.	.	.	.	.	.	.	4/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,synonymous_variant,p.%3D,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	1453	96	61	SUCCESS
BICD1	636	.	GRCh37	12	32491901	32491901	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141754177	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	23	43	0	ENST00000281474.5:c.2752G>T	p.Val918Leu	p.V918L	ENST00000281474	NM_001714.2	918	Gtg/Ttg	0	A:0	A:0	.	A:0	.	T	V/L	protein_coding	YES	CCDS8726.1	2752	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCGTGGCT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0003	ENSP00000281474	A:0	8/10	.	.	.	.	.	.	.	.	rs141754177	8/10	PASS	ENST00000281474	Transcript	.	A:0.0004	ENSG00000151746	1049	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	A:0.002	tolerated_low_confidence(0.17)	.	BICD1_HUMAN	BICD1	HGNC	.	.	UPI00001AEA67	SNV	BICD1,missense_variant,p.Val918Leu,ENST00000281474,;BICD1,intron_variant,,ENST00000548411,;BICD1,3_prime_UTR_variant,,ENST00000395758,;BICD1,non_coding_transcript_exon_variant,,ENST00000552226,;BICD1,downstream_gene_variant,,ENST00000552160,;	2855	43	41	SUCCESS
CNTN1	1272	.	GRCh37	12	41419025	41419025	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	83	0	ENST00000347616.1:c.2597C>T	p.Ala866Val	p.A866V	ENST00000347616		866	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS8737.1	2597	MUTECT|MUSE	.	CTCGGCCAGGC	NONE	.	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,PROSITE_profiles:PS50853	.	.	ENSP00000447006	.	21/24	.	.	.	.	.	.	.	.	COSM1241027	21/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.387)	.	tolerated(0.07)	1	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Ala866Val,ENST00000551295,;CNTN1,missense_variant,p.Ala866Val,ENST00000347616,;CNTN1,missense_variant,p.Ala855Val,ENST00000348761,;CNTN1,non_coding_transcript_exon_variant,,ENST00000550305,;CNTN1,upstream_gene_variant,,ENST00000548481,;	2714	83	66	SUCCESS
KMT2D	8085	.	GRCh37	12	49433342	49433342	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	41	0	ENST00000301067.7:c.8105A>T	p.Gln2702Leu	p.Q2702L	ENST00000301067	NM_003482.3	2702	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS44873.1	8105	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTGCCGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	.	.	ENSP00000301067	.	32/54	.	.	.	.	.	.	.	.	.	32/54	PASS	ENST00000301067	Transcript	.	.	ENSG00000167548	7133	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.978)	.	.	.	KMT2D_HUMAN	KMT2D	HGNC	Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN	.	UPI0000EE84D6	SNV	KMT2D,missense_variant,p.Gln2702Leu,ENST00000301067,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000550356,;	8105	41	20	SUCCESS
KRT77	374454	.	GRCh37	12	53089605	53089605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	303	12	420	0	ENST00000341809.3:c.866T>A	p.Val289Glu	p.V289E	ENST00000341809	NM_175078.2	289	gTg/gAg	0	.	.	.	.	.	T	V/E	protein_coding	YES	CCDS8837.1	866	MUTECT|MUSE	.	TGTCCACCCTG	NONE	.	.	hmmpanther:PTHR23239:SF87,hmmpanther:PTHR23239,Pfam_domain:PF00038	.	.	ENSP00000342710	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000341809	Transcript	.	.	ENSG00000189182	20411	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	K2C1B_HUMAN	KRT77	HGNC	F5GY66_HUMAN	.	UPI00001D797A	SNV	KRT77,missense_variant,p.Val289Glu,ENST00000341809,;KRT77,missense_variant,p.Val56Glu,ENST00000537195,;RP11-641A6.3,intron_variant,,ENST00000547533,;KRT77,3_prime_UTR_variant,,ENST00000553168,;KRT77,upstream_gene_variant,,ENST00000550823,;	895	420	315	SUCCESS
PTPRB	5787	.	GRCh37	12	70934703	70934703	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	89	0	ENST00000261266.5:c.4875T>A	p.Ala1625=	p.A1625=	ENST00000261266	NM_002837.4	1625	gcT/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS44943.1	5529	MUTECT|MUSE	.	AGACCAGCACT	NONE	.	.	hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219	.	.	ENSP00000334928	.	23/34	.	.	.	.	.	.	.	.	.	23/34	PASS	ENST00000334414	Transcript	.	.	ENSG00000127329	9665	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRB_HUMAN	PTPRB	HGNC	.	.	UPI00002294FA	SNV	PTPRB,synonymous_variant,p.%3D,ENST00000538708,;PTPRB,synonymous_variant,p.%3D,ENST00000261266,;PTPRB,synonymous_variant,p.%3D,ENST00000334414,;PTPRB,synonymous_variant,p.%3D,ENST00000550358,;PTPRB,synonymous_variant,p.%3D,ENST00000451516,;PTPRB,synonymous_variant,p.%3D,ENST00000550857,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;RP11-588H23.3,downstream_gene_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;PTPRB,upstream_gene_variant,,ENST00000549400,;	5574	89	77	SUCCESS
CEP290	80184	.	GRCh37	12	88534999	88534999	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	233	64	320	0	ENST00000552810.1:c.86T>A	p.Leu29Ter	p.L29*	ENST00000552810	NM_025114.3	29	tTg/tAg	0	.	.	.	.	.	T	L/*	protein_coding	YES	CCDS55858.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCAATAAA	NONE	.	.	hmmpanther:PTHR18879	.	.	ENSP00000448012	.	2/54	.	.	.	.	.	.	.	.	.	2/54	PASS	ENST00000552810	Transcript	.	.	ENSG00000198707	29021	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE290_HUMAN	CEP290	HGNC	.	.	UPI0000D60D15	SNV	CEP290,stop_gained,p.Leu29Ter,ENST00000309041,;CEP290,stop_gained,p.Leu29Ter,ENST00000552810,;CEP290,stop_gained,p.Leu29Ter,ENST00000550962,;TMTC3,upstream_gene_variant,,ENST00000549011,;TMTC3,upstream_gene_variant,,ENST00000551088,;TMTC3,upstream_gene_variant,,ENST00000266712,;CEP290,upstream_gene_variant,,ENST00000552770,;TMTC3,upstream_gene_variant,,ENST00000547034,;CEP290,upstream_gene_variant,,ENST00000547926,;	430	320	298	SUCCESS
ATP8A2	51761	.	GRCh37	13	26152991	26152991	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	63	0	ENST00000381655.2:c.1821A>T	p.Lys607Asn	p.K607N	ENST00000381655	NM_016529.4	607	aaA/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS41873.1	1821	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAATATAT	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	.	.	ENSP00000371070	.	21/37	.	.	.	.	.	.	.	.	.	21/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.085)	.	tolerated(0.42)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Lys567Asn,ENST00000255283,;ATP8A2,missense_variant,p.Lys607Asn,ENST00000381655,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,missense_variant,p.Lys447Asn,ENST00000281620,;	1963	63	61	SUCCESS
FRY	10129	.	GRCh37	13	32776494	32776494	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	58	157	0	ENST00000380250.3:c.3848T>C	p.Ile1283Thr	p.I1283T	ENST00000380250	NM_023037.2	1283	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS41875.1	3848	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGATCCTTG	NONE	.	.	Pfam_domain:PF14228,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	.	.	ENSP00000369600	.	31/61	.	.	.	.	.	.	.	.	.	31/61	PASS	ENST00000380250	Transcript	.	.	ENSG00000073910	20367	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.297)	.	deleterious(0)	.	FRY_HUMAN	FRY	HGNC	Q96KW3_HUMAN,F5H4D2_HUMAN	.	UPI000046FD40	SNV	FRY,missense_variant,p.Ile1283Thr,ENST00000380250,;	4344	157	127	SUCCESS
THSD1	55901	.	GRCh37	13	52971697	52971697	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	47	126	0	ENST00000258613.4:c.691A>G	p.Thr231Ala	p.T231A	ENST00000258613	NM_018676.3	231	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS9432.1	691	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGTGGAGG	NONE	.	.	hmmpanther:PTHR16311	.	.	ENSP00000258613	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000258613	Transcript	.	.	ENSG00000136114	17754	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.23)	.	THSD1_HUMAN	THSD1	HGNC	F5H419_HUMAN	.	UPI000007376D	SNV	THSD1,missense_variant,p.Thr231Ala,ENST00000349258,;THSD1,missense_variant,p.Thr231Ala,ENST00000258613,;THSD1,intron_variant,,ENST00000544466,;RNY4P24,upstream_gene_variant,,ENST00000362735,;	870	126	147	SUCCESS
DYNC1H1	1778	.	GRCh37	14	102446137	102446137	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	25	161	0	ENST00000360184.4:c.600T>C	p.Ile200=	p.I200=	ENST00000360184	NM_001376.4	200	atT/atC	0	.	.	.	.	.	C	I	protein_coding	YES	CCDS9966.1	600	RADIA|MUTECT|MUSE|VARSCANS	.	AATATTGAAAT	NONE	.	.	hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676	.	.	ENSP00000348965	.	4/78	.	.	.	.	.	.	.	.	.	4/78	PASS	ENST00000360184	Transcript	1	.	ENSG00000197102	2961	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DYHC1_HUMAN	DYNC1H1	HGNC	Q92862_HUMAN,B4DSR6_HUMAN	.	UPI00001B515A	SNV	DYNC1H1,synonymous_variant,p.%3D,ENST00000360184,;	764	161	145	SUCCESS
IGHV4-59	28392	.	GRCh37	14	107083476	107083476	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	257	55	370	0	ENST00000455737.1:c.128T>G	p.Val43Gly	p.V43G	ENST00000455737		43	gTc/gGc	0	.	.	.	.	.	C	V/G	IG_V_gene	YES	.	128	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGACAGTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86,PROSITE_profiles:PS50835	.	.	ENSP00000410711	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000455737	Transcript	.	.	ENSG00000224373	5654	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.996)	.	deleterious_low_confidence(0)	.	.	IGHV4-59	HGNC	Q86SX2_HUMAN	.	UPI0000161567	SNV	IGHV4-59,missense_variant,p.Val43Gly,ENST00000390629,;IGHV4-59,missense_variant,p.Val43Gly,ENST00000455737,;IGHV1-58,upstream_gene_variant,,ENST00000390628,;IGHV3-60,downstream_gene_variant,,ENST00000521678,;	168	370	313	SUCCESS
SYNE2	23224	.	GRCh37	14	64494342	64494342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	50	292	0	ENST00000344113.4:c.6545T>C	p.Leu2182Ser	p.L2182S	ENST00000344113	NM_015180.4	2182	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS9761.2	6545	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGTTAAAGA	NONE	.	.	hmmpanther:PTHR11915:SF264,hmmpanther:PTHR11915,Superfamily_domains:SSF46966	.	.	ENSP00000350719	.	43/116	.	.	.	.	.	.	.	.	.	43/116	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	SYNE2,missense_variant,p.Leu2182Ser,ENST00000554584,;SYNE2,missense_variant,p.Leu2182Ser,ENST00000358025,;SYNE2,missense_variant,p.Leu2182Ser,ENST00000344113,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	6775	292	251	SUCCESS
NRDE2	55051	.	GRCh37	14	90783115	90783115	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1029779123	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	56	1	ENST00000354366.3:c.214A>G	p.Asn72Asp	p.N72D	ENST00000354366	NM_017970.3	72	Aac/Gac	0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS9890.1	214	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTTAGTGT	BUFFER|p.S69G|c.205A>G|3	.	.	hmmpanther:PTHR13471	.	.	ENSP00000346335	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000354366	Transcript	.	.	ENSG00000119720	20186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.92)	.	NRDE2_HUMAN	NRDE2	HGNC	Q658X2_HUMAN,E9PBK4_HUMAN	.	UPI00001FD9DB	SNV	NRDE2,missense_variant,p.Asn72Asp,ENST00000354366,;NRDE2,intron_variant,,ENST00000357904,;NRDE2,non_coding_transcript_exon_variant,,ENST00000557106,;NRDE2,intron_variant,,ENST00000553409,;NRDE2,upstream_gene_variant,,ENST00000556189,;	447	57	43	SUCCESS
UNC13C	440279	.	GRCh37	15	54305889	54305889	+	synonymous_variant	Silent	SNP	A	A	G	rs1310361049	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	83	0	ENST00000260323.11:c.789A>G	p.Leu263=	p.L263=	ENST00000260323	NM_001080534.1	263	ctA/ctG	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS45264.1	789	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTACGAGG	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;	789	83	53	SUCCESS
MRPL46	26589	.	GRCh37	15	89003046	89003046	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	78	0	ENST00000312475.4:c.638A>G	p.Tyr213Cys	p.Y213C	ENST00000312475	NM_022163.3	213	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS10341.1	638	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGTAGTGC	NONE	.	.	hmmpanther:PTHR13124,Gene3D:3.90.79.10,Superfamily_domains:SSF55811	.	.	ENSP00000312311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000312475	Transcript	.	.	ENSG00000259494	1192	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	RM46_HUMAN	MRPL46	HGNC	.	.	UPI00000467E8	SNV	MRPL46,missense_variant,p.Tyr213Cys,ENST00000312475,;MRPL46,non_coding_transcript_exon_variant,,ENST00000559538,;RP11-97O12.7,non_coding_transcript_exon_variant,,ENST00000561140,;MRPL46,3_prime_UTR_variant,,ENST00000560703,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558660,;	680	78	81	SUCCESS
GSPT1	2935	.	GRCh37	16	11991860	11991860	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	127	0	ENST00000420576.2:c.-30T>C		p.*10*	ENST00000420576	NM_001130007.1	129		0	.	.	.	.	.	G	L	protein_coding	YES	CCDS45412.1	385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAATGACT	NONE	.	.	.	.	.	ENSP00000398131	.	2/15	.	.	.	.	.	.	.	.	.	2/15	PASS	ENST00000434724	Transcript	.	.	ENSG00000103342	4621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERF3A_HUMAN	GSPT1	HGNC	.	.	UPI000049DE01	SNV	GSPT1,synonymous_variant,p.%3D,ENST00000439887,;GSPT1,synonymous_variant,p.%3D,ENST00000562169,;GSPT1,synonymous_variant,p.%3D,ENST00000434724,;GSPT1,synonymous_variant,p.%3D,ENST00000568849,;GSPT1,5_prime_UTR_variant,,ENST00000420576,;GSPT1,upstream_gene_variant,,ENST00000565267,;GSPT1,upstream_gene_variant,,ENST00000563468,;RP11-166B2.8,downstream_gene_variant,,ENST00000574364,;GSPT1,upstream_gene_variant,,ENST00000567631,;	585	127	116	SUCCESS
PKD1P6	353511	.	GRCh37	16	15224267	15224267	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	rs768675974	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	28	0	ENST00000343738.6:n.3464A>T		p.*1155*	ENST00000343738				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGTGGCTG	NONE	byFrequency	.	.	.	.	.	.	3/18	.	.	.	.	.	.	.	.	rs768675974	3/18	PASS	ENST00000605794	Transcript	.	.	ENSG00000270580	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-1186N24.5	Clone_based_vega_gene	.	.	.	SNV	PDXDC1,intron_variant,,ENST00000535621,;RP11-1186N24.5,non_coding_transcript_exon_variant,,ENST00000605794,;PKD1P6,non_coding_transcript_exon_variant,,ENST00000424133,;PKD1P6,downstream_gene_variant,,ENST00000540075,;PKD1P6,downstream_gene_variant,,ENST00000540502,;PKD1P6,downstream_gene_variant,,ENST00000538100,;RP11-1186N24.5,upstream_gene_variant,,ENST00000340301,;PKD1P6,downstream_gene_variant,,ENST00000546358,;PKD1P6,non_coding_transcript_exon_variant,,ENST00000343738,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000448014,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000358815,;	717	28	34	SUCCESS
GPR139	124274	.	GRCh37	16	20084946	20084946	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	24	137	0	ENST00000570682.1:c.-8G>T		p.*3*	ENST00000570682	NM_001002911.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32398.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGCCCCTC	NONE	.	.	.	.	.	ENSP00000458791	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000570682	Transcript	.	.	ENSG00000180269	19995	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP139_HUMAN	GPR139	HGNC	.	.	UPI000004C566	SNV	GPR139,5_prime_UTR_variant,,ENST00000570682,;GPR139,5_prime_UTR_variant,,ENST00000326571,;	294	137	114	SUCCESS
ACSM2A	123876	.	GRCh37	16	20489989	20489989	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	79	0	ENST00000219054.6:c.1271C>G	p.Ser424Cys	p.S424C	ENST00000219054		424	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS32401.1	1271	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTCTGGCT	NONE	.	.	hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF140,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000459451	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000573854	Transcript	.	.	ENSG00000183747	32017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	deleterious(0.04)	.	ACS2A_HUMAN	ACSM2A	HGNC	I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN	.	UPI0000251E27	SNV	ACSM2A,missense_variant,p.Ser424Cys,ENST00000575690,;ACSM2A,missense_variant,p.Ser424Cys,ENST00000573854,;ACSM2A,missense_variant,p.Ser196Cys,ENST00000536134,;ACSM2A,missense_variant,p.Ser424Cys,ENST00000219054,;ACSM2A,missense_variant,p.Ser345Cys,ENST00000417235,;ACSM2A,missense_variant,p.Ser424Cys,ENST00000396104,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,downstream_gene_variant,,ENST00000572921,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000572843,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000576101,;ACSM2A,downstream_gene_variant,,ENST00000574692,;ACSM2A,upstream_gene_variant,,ENST00000576119,;	1385	79	68	SUCCESS
TRAP1	10131	.	GRCh37	16	3712858	3712858	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	34	0	ENST00000246957.5:c.1794+25A>G		p.*598*	ENST00000246957	NM_016292.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10508.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTGGTCC	NONE	.	.	.	.	.	ENSP00000246957	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000246957	Transcript	.	.	ENSG00000126602	16264	.	.	MODIFIER	15/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAP1_HUMAN	TRAP1	HGNC	I3L0P6_HUMAN,I3L0K7_HUMAN	.	UPI000013CC0A	SNV	TRAP1,intron_variant,,ENST00000575671,;DNASE1,intron_variant,,ENST00000575479,;DNASE1,intron_variant,,ENST00000414110,;TRAP1,intron_variant,,ENST00000246957,;TRAP1,intron_variant,,ENST00000538171,;DNASE1,downstream_gene_variant,,ENST00000407479,;DNASE1,downstream_gene_variant,,ENST00000570664,;TRAP1,downstream_gene_variant,,ENST00000576335,;DNASE1,downstream_gene_variant,,ENST00000246949,;DNASE1,downstream_gene_variant,,ENST00000576792,;DNASE1,non_coding_transcript_exon_variant,,ENST00000575152,;TRAP1,downstream_gene_variant,,ENST00000573872,;DNASE1,intron_variant,,ENST00000571460,;TRAP1,upstream_gene_variant,,ENST00000575707,;TRAP1,upstream_gene_variant,,ENST00000574494,;DNASE1,downstream_gene_variant,,ENST00000570807,;DNASE1,downstream_gene_variant,,ENST00000572237,;DNASE1,downstream_gene_variant,,ENST00000570769,;	.	34	20	SUCCESS
VPS4A	27183	.	GRCh37	16	69353433	69353433	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	63	0	ENST00000254950.11:c.607G>T	p.Gly203Trp	p.G203W	ENST00000254950	NM_013245.2	203	Ggg/Tgg	0	.	.	.	.	.	T	G/W	protein_coding	YES	CCDS45517.1	607	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGGGGAG	NONE	.	.	hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF82,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000254950	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000254950	Transcript	.	.	ENSG00000132612	13488	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	VPS4A_HUMAN	VPS4A	HGNC	Q9UF30_HUMAN	.	UPI000000DC7F	SNV	VPS4A,missense_variant,p.Gly203Trp,ENST00000254950,;RP11-343C2.11,missense_variant,p.Gly227Trp,ENST00000570054,;COG8,downstream_gene_variant,,ENST00000562595,;VPS4A,upstream_gene_variant,,ENST00000564399,;COG8,downstream_gene_variant,,ENST00000564419,;VPS4A,non_coding_transcript_exon_variant,,ENST00000562754,;VPS4A,upstream_gene_variant,,ENST00000566354,;	763	63	63	SUCCESS
MYOCD	93649	.	GRCh37	17	12608447	12608447	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	193	80	335	0	ENST00000343344.4:c.58T>C		p.X20_splice	ENST00000343344		20	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS54091.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTTACAG	NONE	.	.	SMART_domains:SM00707,hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11,PROSITE_profiles:PS51073,Low_complexity_(Seg):seg	.	.	ENSP00000401678	.	2/14	.	.	.	.	.	.	.	.	.	2/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,synonymous_variant,p.%3D,ENST00000343344,;MYOCD,synonymous_variant,p.%3D,ENST00000425538,;AC005358.3,intron_variant,,ENST00000445508,;MYOCD,synonymous_variant,p.%3D,ENST00000579237,;	258	335	273	SUCCESS
PROCA1	147011	.	GRCh37	17	27030972	27030972	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	56	0	ENST00000301039.2:c.615C>T	p.Ile205=	p.I205=	ENST00000301039	NM_152465.1	205	atC/atT	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS11239.1	615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGATCAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12253:SF14,hmmpanther:PTHR12253	.	.	ENSP00000301039	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000301039	Transcript	.	.	ENSG00000167525	28600	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRCA1_HUMAN	PROCA1	HGNC	K7ESJ9_HUMAN	.	UPI000006D0EE	SNV	PROCA1,synonymous_variant,p.%3D,ENST00000301039,;PROCA1,synonymous_variant,p.%3D,ENST00000439862,;PROCA1,synonymous_variant,p.%3D,ENST00000415329,;PROCA1,3_prime_UTR_variant,,ENST00000581289,;SUPT6H,downstream_gene_variant,,ENST00000314616,;SUPT6H,downstream_gene_variant,,ENST00000347486,;PROCA1,downstream_gene_variant,,ENST00000422880,;PROCA1,downstream_gene_variant,,ENST00000584073,;PROCA1,downstream_gene_variant,,ENST00000579650,;PROCA1,downstream_gene_variant,,ENST00000578097,;PROCA1,non_coding_transcript_exon_variant,,ENST00000495203,;SUPT6H,downstream_gene_variant,,ENST00000583340,;SUPT6H,downstream_gene_variant,,ENST00000581510,;PROCA1,downstream_gene_variant,,ENST00000473751,;	809	56	49	SUCCESS
LHX1	3975	.	GRCh37	17	35300131	35300131	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	181	48	267	0	ENST00000254457.5:c.924A>G	p.Pro308=	p.P308=	ENST00000254457	NM_005568.3	308	ccA/ccG	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS11316.1	924	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCAGTGGA	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94	.	.	ENSP00000254457	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000254457	Transcript	.	.	ENSG00000132130	6593	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX1_HUMAN	LHX1	HGNC	Q58F18_HUMAN	.	UPI000013CE37	SNV	LHX1,synonymous_variant,p.%3D,ENST00000254457,;RP11-445F12.2,intron_variant,,ENST00000607336,;LHX1,intron_variant,,ENST00000589584,;LHX1,downstream_gene_variant,,ENST00000559335,;LHX1,downstream_gene_variant,,ENST00000557970,;LHX1,downstream_gene_variant,,ENST00000559572,;	2335	267	229	SUCCESS
KRT27	342574	.	GRCh37	17	38936060	38936060	+	synonymous_variant	Silent	SNP	G	G	A	rs1397928127	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	113	0	ENST00000301656.3:c.738C>T	p.Asn246=	p.N246=	ENST00000301656	NM_181537.3	246	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS11375.1	738	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGCGTTCAT	NONE	.	.	hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	.	.	ENSP00000301656	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000301656	Transcript	.	.	ENSG00000171446	30841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C27_HUMAN	KRT27	HGNC	.	.	UPI0000200C91	SNV	KRT27,synonymous_variant,p.%3D,ENST00000301656,;KRT27,upstream_gene_variant,,ENST00000540723,;	779	113	75	SUCCESS
HAP1	9001	.	GRCh37	17	39890781	39890781	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	18	74	0	ENST00000310778.5:c.106G>T	p.Glu36Ter	p.E36*	ENST00000310778		36	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS11406.1	106	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTCCGGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15751:SF14,hmmpanther:PTHR15751	.	.	ENSP00000334002	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000347901	Transcript	.	.	ENSG00000173805	4812	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAP1_HUMAN	HAP1	HGNC	.	.	UPI000024700D	SNV	HAP1,stop_gained,p.Glu36Ter,ENST00000347901,;HAP1,stop_gained,p.Glu36Ter,ENST00000393939,;HAP1,stop_gained,p.Glu36Ter,ENST00000310778,;HAP1,stop_gained,p.Glu36Ter,ENST00000341193,;JUP,intron_variant,,ENST00000540235,;RN7SL399P,upstream_gene_variant,,ENST00000471648,;	116	74	69	SUCCESS
CACNG4	27092	.	GRCh37	17	64961144	64961144	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	169	0	ENST00000262138.3:c.117C>T	p.His39=	p.H39=	ENST00000262138	NM_014405.3	39	caC/caT	0	.	.	.	.	.	T	H	protein_coding	YES	CCDS11667.1	117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCACATCTG	NONE	.	.	hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7,Pfam_domain:PF00822,Prints_domain:PR01603	.	.	ENSP00000262138	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000262138	Transcript	.	.	ENSG00000075461	1408	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCG4_HUMAN	CACNG4	HGNC	.	.	UPI0000001649	SNV	CACNG4,synonymous_variant,p.%3D,ENST00000262138,;	119	169	136	SUCCESS
GRIN2C	2905	.	GRCh37	17	72842250	72842250	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	14	93	0	ENST00000293190.5:c.2305T>A	p.Trp769Arg	p.W769R	ENST00000293190	NM_000835.4	769	Tgg/Agg	0	.	.	.	.	.	T	W/R	protein_coding	YES	CCDS32724.1	2305	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGTGGG	NONE	.	.	hmmpanther:PTHR18966:SF179,hmmpanther:PTHR18966,Pfam_domain:PF00060,Pfam_domain:PF00497,SMART_domains:SM00079,Superfamily_domains:SSF53850	.	.	ENSP00000293190	.	11/13	.	.	.	.	.	.	.	.	.	11/13	PASS	ENST00000293190	Transcript	.	.	ENSG00000161509	4587	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	NMDE3_HUMAN	GRIN2C	HGNC	.	.	UPI00001AEBA4	SNV	GRIN2C,missense_variant,p.Trp769Arg,ENST00000347612,;GRIN2C,missense_variant,p.Trp769Arg,ENST00000293190,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;	2452	93	64	SUCCESS
PGS1	9489	.	GRCh37	17	76399940	76399940	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	92	0	ENST00000262764.6:c.1172T>C	p.Leu391Pro	p.L391P	ENST00000262764	NM_024419.3	391	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS42391.1	1172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTGACCC	NONE	.	.	hmmpanther:PTHR12586:SF1,hmmpanther:PTHR12586,Gene3D:3.30.870.10,PIRSF_domain:PIRSF000850,Superfamily_domains:SSF56024	.	.	ENSP00000262764	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000262764	Transcript	.	.	ENSG00000087157	30029	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.677)	.	deleterious(0)	.	PGPS1_HUMAN	PGS1	HGNC	.	.	UPI00000435E5	SNV	PGS1,missense_variant,p.Leu256Pro,ENST00000329897,;PGS1,missense_variant,p.Leu9Pro,ENST00000586019,;PGS1,missense_variant,p.Leu391Pro,ENST00000262764,;PGS1,missense_variant,p.Leu365Pro,ENST00000589689,;PGS1,downstream_gene_variant,,ENST00000587356,;PGS1,upstream_gene_variant,,ENST00000586355,;PGS1,downstream_gene_variant,,ENST00000592043,;SNORA30,downstream_gene_variant,,ENST00000363193,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,intron_variant,,ENST00000585521,;PGS1,missense_variant,p.Leu365Pro,ENST00000589426,;PGS1,3_prime_UTR_variant,,ENST00000588169,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,non_coding_transcript_exon_variant,,ENST00000591996,;	1198	92	84	SUCCESS
DSG4	147409	.	GRCh37	18	28992917	28992917	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	37	85	0	ENST00000308128.4:c.2483del	p.Leu828Ter	p.L828*	ENST00000308128	NM_177986.3	828	Tta/ta	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS45845.1	2539	VARSCANI*|PINDEL	.	GATGACTTAGAT	NONE	.	.	hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,Pfam_domain:PF01049,Gene3D:4.10.900.10	.	.	ENSP00000352785	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000359747	Transcript	.	.	ENSG00000175065	21307	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSG4_HUMAN	DSG4	HGNC	.	.	UPI000035DB4E	deletion	DSG4,frameshift_variant,p.Leu828Ter,ENST00000308128,;DSG4,frameshift_variant,p.Leu847Ter,ENST00000359747,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;	2568	85	156	SUCCESS
CXXC1	30827	.	GRCh37	18	47809307	47809307	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	18	86	0	ENST00000285106.6:c.1741C>T	p.Arg581Cys	p.R581C	ENST00000285106	NM_001101654.1	581	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS45866.1	1753	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGGCAGA	NONE	.	.	hmmpanther:PTHR12321:SF33,hmmpanther:PTHR12321,Pfam_domain:PF12269	.	.	ENSP00000390475	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000412036	Transcript	.	.	ENSG00000154832	24343	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.166)	.	deleterious(0.04)	.	CXXC1_HUMAN	CXXC1	HGNC	K7EJR0_HUMAN	.	UPI0000169F65	SNV	CXXC1,missense_variant,p.Arg581Cys,ENST00000285106,;CXXC1,missense_variant,p.Arg585Cys,ENST00000412036,;CXXC1,synonymous_variant,p.%3D,ENST00000589940,;MBD1,upstream_gene_variant,,ENST00000585595,;MBD1,upstream_gene_variant,,ENST00000590208,;CXXC1,downstream_gene_variant,,ENST00000586837,;CXXC1,downstream_gene_variant,,ENST00000589548,;MBD1,upstream_gene_variant,,ENST00000398493,;MBD1,upstream_gene_variant,,ENST00000436910,;MBD1,upstream_gene_variant,,ENST00000353909,;MBD1,upstream_gene_variant,,ENST00000349085,;CXXC1,downstream_gene_variant,,ENST00000591474,;MBD1,upstream_gene_variant,,ENST00000398488,;MBD1,upstream_gene_variant,,ENST00000587605,;MBD1,upstream_gene_variant,,ENST00000588937,;MBD1,upstream_gene_variant,,ENST00000269471,;MBD1,upstream_gene_variant,,ENST00000347968,;MBD1,upstream_gene_variant,,ENST00000269468,;MBD1,upstream_gene_variant,,ENST00000398495,;MBD1,upstream_gene_variant,,ENST00000591535,;MBD1,upstream_gene_variant,,ENST00000339998,;MBD1,upstream_gene_variant,,ENST00000585672,;MBD1,upstream_gene_variant,,ENST00000457839,;MBD1,upstream_gene_variant,,ENST00000382948,;MBD1,upstream_gene_variant,,ENST00000591416,;MBD1,upstream_gene_variant,,ENST00000424334,;CXXC1,downstream_gene_variant,,ENST00000587396,;CXXC1,non_coding_transcript_exon_variant,,ENST00000587170,;CXXC1,non_coding_transcript_exon_variant,,ENST00000590901,;CXXC1,non_coding_transcript_exon_variant,,ENST00000586144,;CXXC1,non_coding_transcript_exon_variant,,ENST00000587342,;CXXC1,downstream_gene_variant,,ENST00000586568,;CXXC1,downstream_gene_variant,,ENST00000586365,;MBD1,upstream_gene_variant,,ENST00000589758,;CXXC1,downstream_gene_variant,,ENST00000591190,;CXXC1,downstream_gene_variant,,ENST00000586502,;MBD1,upstream_gene_variant,,ENST00000586118,;CXXC1,downstream_gene_variant,,ENST00000590234,;MBD1,upstream_gene_variant,,ENST00000589867,;CXXC1,downstream_gene_variant,,ENST00000592078,;MBD1,upstream_gene_variant,,ENST00000590215,;	1800	86	99	SUCCESS
CDH19	28513	.	GRCh37	18	64211362	64211362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	40	96	0	ENST00000262150.2:c.1060A>T	p.Thr354Ser	p.T354S	ENST00000262150	NM_021153.3	354	Acc/Tcc	0	.	.	.	.	.	A	T/S	protein_coding	YES	CCDS11994.1	1060	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGTGGAAG	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF255,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000262150	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000262150	Transcript	.	.	ENSG00000071991	1758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.097)	.	tolerated(0.06)	.	CAD19_HUMAN	CDH19	HGNC	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN	.	UPI0000048ECF	SNV	CDH19,missense_variant,p.Thr354Ser,ENST00000540086,;CDH19,missense_variant,p.Thr354Ser,ENST00000262150,;CDH19,missense_variant,p.Thr343Ser,ENST00000454642,;CDH19,missense_variant,p.Thr354Ser,ENST00000579658,;	1353	96	100	SUCCESS
LAMA1	284217	.	GRCh37	18	6956653	6956653	+	synonymous_variant	Silent	SNP	T	T	G	rs771586428	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	16	37	0	ENST00000389658.3:c.8076A>C	p.Pro2692=	p.P2692=	ENST00000389658	NM_005559.3	2692	ccA/ccC	0	.	.	.	.	.	G	P	protein_coding	YES	CCDS32787.1	8076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCTGGCAA	NONE	.	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574	.	.	ENSP00000374309	.	56/63	.	.	.	.	.	.	.	.	rs771586428	56/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,synonymous_variant,p.%3D,ENST00000389658,;RP11-781P6.1,non_coding_transcript_exon_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000492048,;	8170	37	61	SUCCESS
SALL3	27164	.	GRCh37	18	76757118	76757118	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	51	163	0	ENST00000537592.2:c.3699C>T	p.Ile1233=	p.I1233=	ENST00000537592	NM_171999.3	1233	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS12013.1	3699	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATCCAGAA	NONE	.	.	hmmpanther:PTHR23233:SF46,hmmpanther:PTHR23233	.	.	ENSP00000441823	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,synonymous_variant,p.%3D,ENST00000536229,;SALL3,synonymous_variant,p.%3D,ENST00000537592,;SALL3,synonymous_variant,p.%3D,ENST00000575389,;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	3699	163	153	SUCCESS
CACNA1A	773	.	GRCh37	19	13617016	13617016	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	313	205	492	1	ENST00000360228.5:c.23T>C	p.Met8Thr	p.M8T	ENST00000360228	NM_001127222.1	8	aTg/aCg	0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS45998.1	23	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGCATCTCG	NONE	.	.	.	.	.	ENSP00000353362	.	1/47	.	.	.	.	.	.	.	.	.	1/47	PASS	ENST00000360228	Transcript	1	.	ENSG00000141837	1388	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.092)	.	.	.	CAC1A_HUMAN	CACNA1A	HGNC	Q9UN69_HUMAN,Q9UHM9_HUMAN	.	UPI0000141565	SNV	CACNA1A,missense_variant,p.Met8Thr,ENST00000573710,;CACNA1A,missense_variant,p.Met8Thr,ENST00000360228,;CACNA1A,intron_variant,,ENST00000574974,;	23	494	518	SUCCESS
ADAMTSL5	339366	.	GRCh37	19	1510211	1510211	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	9	70	0	ENST00000330475.4:c.299T>G	p.Leu100Arg	p.L100R	ENST00000330475	NM_213604.2	100	cTg/cGg	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS12071.1	299	RADIA|MUTECT|MUSE|VARSCANS	.	TGTACAGGGCA	NONE	.	.	hmmpanther:PTHR13723:SF146,hmmpanther:PTHR13723	.	.	ENSP00000327608	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000330475	Transcript	.	.	ENSG00000185761	27912	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.507)	.	tolerated(0.06)	.	ATL5_HUMAN	ADAMTSL5	HGNC	A4QPG6_HUMAN	.	UPI00001D8216	SNV	ADAMTSL5,missense_variant,p.Leu100Arg,ENST00000330475,;ADAMTSL5,missense_variant,p.Leu110Arg,ENST00000413997,;ADAMTSL5,5_prime_UTR_variant,,ENST00000395467,;ADAMTSL5,upstream_gene_variant,,ENST00000590090,;CTB-25B13.9,downstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585804,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000586272,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590562,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,synonymous_variant,p.%3D,ENST00000587828,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000589839,;ADAMTSL5,upstream_gene_variant,,ENST00000590682,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;	743	70	73	SUCCESS
LRRC25	126364	.	GRCh37	19	18507367	18507367	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150448187	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	23	62	0	ENST00000339007.3:c.407C>T	p.Pro136Leu	p.P136L	ENST00000339007	NM_145256.2	136	cCt/cTt	0	A:0	A:0	.	A:0	.	A	P/L	protein_coding	YES	CCDS12377.1	407	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGGCTTC	NONE	byCluster|by1000G	.	hmmpanther:PTHR20878:SF0,hmmpanther:PTHR20878	A:0	A:0.0001	ENSP00000340983	A:0.001	1/2	.	.	.	.	.	.	.	.	rs150448187	1/2	common_in_exac	ENST00000339007	Transcript	.	A:0.0002	ENSG00000175489	29806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.099)	A:0	tolerated(0.07)	.	LRC25_HUMAN	LRRC25	HGNC	U3KQ27_HUMAN	.	UPI000013EEF4	SNV	LRRC25,missense_variant,p.Pro136Leu,ENST00000595840,;LRRC25,missense_variant,p.Pro136Leu,ENST00000339007,;	1061	62	73	SUCCESS
ZNF506	440515	.	GRCh37	19	19906192	19906192	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	35	97	0	ENST00000443905.2:c.504T>A	p.Thr168=	p.T168=	ENST00000443905		168	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS42531.1	504	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCAGTATC	NONE	.	.	hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF82,Superfamily_domains:SSF57667	.	.	ENSP00000393835	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000443905	Transcript	.	.	ENSG00000081665	23780	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN506_HUMAN	ZNF506	HGNC	K7ERD0_HUMAN	.	UPI00001B6472	SNV	ZNF506,synonymous_variant,p.%3D,ENST00000450683,;ZNF506,synonymous_variant,p.%3D,ENST00000590319,;ZNF506,synonymous_variant,p.%3D,ENST00000443905,;ZNF506,synonymous_variant,p.%3D,ENST00000540806,;ZNF506,intron_variant,,ENST00000590766,;ZNF506,intron_variant,,ENST00000587461,;ZNF506,downstream_gene_variant,,ENST00000587452,;ZNF506,downstream_gene_variant,,ENST00000545006,;CTC-559E9.4,intron_variant,,ENST00000590274,;CTC-559E9.6,intron_variant,,ENST00000591884,;CTC-559E9.6,intron_variant,,ENST00000589657,;CTC-559E9.5,upstream_gene_variant,,ENST00000590697,;ZNF506,synonymous_variant,p.%3D,ENST00000591639,;ZNF506,non_coding_transcript_exon_variant,,ENST00000587822,;ZNF506,intron_variant,,ENST00000586260,;	652	97	111	SUCCESS
ATCAY	85300	.	GRCh37	19	3913803	3913803	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	21	67	0	ENST00000450849.2:c.914T>C	p.Leu305Pro	p.L305P	ENST00000450849	NM_033064.4	305	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS45923.1	914	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTGGAGC	NONE	.	.	Superfamily_domains:SSF52087,SMART_domains:SM00516,Pfam_domain:PF13716,Gene3D:3.40.525.10,hmmpanther:PTHR12112,PROSITE_profiles:PS50191	.	.	ENSP00000390941	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000450849	Transcript	1	.	ENSG00000167654	779	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATCAY_HUMAN	ATCAY	HGNC	M0R197_HUMAN	.	UPI000006DE3B	SNV	ATCAY,missense_variant,p.Leu311Pro,ENST00000398448,;ATCAY,missense_variant,p.Leu305Pro,ENST00000600960,;ATCAY,missense_variant,p.Leu305Pro,ENST00000301260,;ATCAY,missense_variant,p.Leu305Pro,ENST00000450849,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	1381	67	72	SUCCESS
LTBP4	8425	.	GRCh37	19	41117271	41117271	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs544264949	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	8	59	0	ENST00000308370.7:c.2225G>A	p.Arg742His	p.R742H	ENST00000308370	NM_001042544.1	742	cGc/cAc	0	.	A:0	.	A:0	.	A	R/H	protein_coding	YES	.	2225	MUTECT|MUSE	.	CTTCCGCTCCC	NONE	by1000G	.	Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026	A:0.001	.	ENSP00000311905	A:0	16/34	.	.	.	.	.	.	.	.	rs544264949	16/34	PASS	ENST00000308370	Transcript	1	A:0.0002	ENSG00000090006	6717	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.063)	A:0	tolerated(0.11)	.	LTBP4_HUMAN	LTBP4	HGNC	.	.	UPI000179A7A0	SNV	LTBP4,missense_variant,p.Arg195His,ENST00000545697,;LTBP4,missense_variant,p.Arg742His,ENST00000308370,;LTBP4,missense_variant,p.Arg675His,ENST00000396819,;LTBP4,missense_variant,p.Arg705His,ENST00000204005,;LTBP4,upstream_gene_variant,,ENST00000601032,;LTBP4,upstream_gene_variant,,ENST00000593463,;LTBP4,upstream_gene_variant,,ENST00000599724,;LTBP4,upstream_gene_variant,,ENST00000597071,;LTBP4,upstream_gene_variant,,ENST00000243562,;RN7SL758P,upstream_gene_variant,,ENST00000580450,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,intron_variant,,ENST00000598677,;LTBP4,intron_variant,,ENST00000598055,;LTBP4,upstream_gene_variant,,ENST00000601560,;LTBP4,upstream_gene_variant,,ENST00000595183,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598256,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,intron_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000594457,;LTBP4,upstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000595118,;LTBP4,upstream_gene_variant,,ENST00000318809,;LTBP4,upstream_gene_variant,,ENST00000594448,;LTBP4,upstream_gene_variant,,ENST00000597816,;LTBP4,upstream_gene_variant,,ENST00000593614,;LTBP4,upstream_gene_variant,,ENST00000601464,;LTBP4,upstream_gene_variant,,ENST00000602251,;LTBP4,upstream_gene_variant,,ENST00000595767,;LTBP4,upstream_gene_variant,,ENST00000601570,;LTBP4,upstream_gene_variant,,ENST00000600499,;LTBP4,upstream_gene_variant,,ENST00000594266,;	2225	59	56	SUCCESS
TGFB1	7040	.	GRCh37	19	41858864	41858864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199758510	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	21	49	0	ENST00000221930.5:c.86G>A	p.Gly29Glu	p.G29E	ENST00000221930	NM_000660.4	29	gGa/gAa	0	T:0.0005	T:0.0008	.	T:0	.	T	G/E	protein_coding	YES	CCDS33031.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTCCCGCG	NONE	byFrequency|byCluster|by1000G	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848:SF125,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423,Prints_domain:PR01424	T:0	T:0.0004	ENSP00000221930	T:0.001	1/7	.	.	.	.	.	.	.	.	rs199758510,CM090931,CM090932,COSM4140675	1/7	PASS	ENST00000221930	Transcript	1	T:0.0004	ENSG00000105329	11766	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	possibly_damaging(0.576)	T:0	deleterious(0.04)	0,0,0,1	TGFB1_HUMAN	TGFB1	HGNC	Q7Z488_HUMAN,Q7Z487_HUMAN,Q5PY19_HUMAN	.	UPI000013C7E1	SNV	TGFB1,missense_variant,p.Gly29Glu,ENST00000221930,;TMEM91,intron_variant,,ENST00000539627,;TMEM91,upstream_gene_variant,,ENST00000604123,;B9D2,downstream_gene_variant,,ENST00000243578,;CTC-435M10.3,intron_variant,,ENST00000604424,;TGFB1,upstream_gene_variant,,ENST00000597453,;B9D2,downstream_gene_variant,,ENST00000594416,;	953	49	61	SUCCESS
ZNF229	7772	.	GRCh37	19	44933761	44933761	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	43	108	0	ENST00000588931.1:c.1195C>A	p.His399Asn	p.H399N	ENST00000588931	NM_014518.2	399	Cac/Aac	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS42574.1	1195	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTGGACCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000466519	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,missense_variant,p.His399Asn,ENST00000588931,;ZNF229,missense_variant,p.His393Asn,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	1629	108	140	SUCCESS
ERCC2	2068	.	GRCh37	19	45873616	45873616	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	71	0	ENST00000391945.4:c.6-126C>T		p.*2*	ENST00000391945	NM_000400.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33049.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGGAGCC	NONE	.	.	.	.	.	ENSP00000375809	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000391945	Transcript	1	.	ENSG00000104884	3434	.	.	MODIFIER	1/22	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERCC2_HUMAN	ERCC2	HGNC	K7EIT8_HUMAN,A8MX75_HUMAN	.	UPI0000139012	SNV	ERCC2,5_prime_UTR_variant,,ENST00000391941,;ERCC2,5_prime_UTR_variant,,ENST00000586856,;ERCC2,5_prime_UTR_variant,,ENST00000485403,;ERCC2,intron_variant,,ENST00000391944,;ERCC2,intron_variant,,ENST00000586131,;ERCC2,intron_variant,,ENST00000391945,;ERCC2,intron_variant,,ENST00000391940,;ERCC2,intron_variant,,ENST00000221481,;ERCC2,intron_variant,,ENST00000586441,;ERCC2,intron_variant,,ENST00000591309,;ERCC2,intron_variant,,ENST00000586737,;	.	71	64	SUCCESS
ZNF765	91661	.	GRCh37	19	53912049	53912049	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	161	6	138	0	ENST00000396408.3:c.1241A>C	p.Asn414Thr	p.N414T	ENST00000396408	NM_001040185.1	414	aAt/aCt	0	.	.	.	.	.	C	N/T	protein_coding	YES	CCDS46171.1	1241	MUTECT|MUSE	.	GTGTAATGAGT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	.	.	ENSP00000379689	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396408	Transcript	.	.	ENSG00000196417	25092	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.948)	.	deleterious(0.03)	.	ZN765_HUMAN	ZNF765	HGNC	D6RF03_HUMAN	.	UPI000040C508	SNV	ZNF765,missense_variant,p.Asn414Thr,ENST00000396408,;ZNF765,intron_variant,,ENST00000594030,;ZNF765,downstream_gene_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,intron_variant,,ENST00000507045,;ZNF765,intron_variant,,ENST00000504235,;RPL39P36,upstream_gene_variant,,ENST00000490784,;	1358	138	167	SUCCESS
FAM71E2	284418	.	GRCh37	19	55869581	55869581	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	43	124	0	ENST00000424985.3:c.2655T>C	p.Thr885=	p.T885=	ENST00000424985	NM_001145402.1	885	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	.	2655	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACAGTTTC	NONE	.	.	.	.	.	ENSP00000398617	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000424985	Transcript	.	.	ENSG00000180043	25278	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F71E2_HUMAN	FAM71E2	HGNC	.	.	UPI0001949ABA	SNV	FAM71E2,synonymous_variant,p.%3D,ENST00000424985,;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,;COX6B2,upstream_gene_variant,,ENST00000589467,;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589879,;COX6B2,upstream_gene_variant,,ENST00000586191,;CTD-2105E13.6,synonymous_variant,p.%3D,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587357,;COX6B2,upstream_gene_variant,,ENST00000587854,;	2849	124	128	SUCCESS
NLRP4	147945	.	GRCh37	19	56388508	56388508	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs572392165	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	34	138	0	ENST00000301295.6:c.2672C>T	p.Thr891Met	p.T891M	ENST00000301295	NM_134444.4	891	aCg/aTg	0	.	T:0	.	T:0	.	T	T/M	protein_coding	YES	CCDS12936.1	2672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATACGGATT	NONE	by1000G	.	hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	T:0	.	ENSP00000301295	T:0	8/10	.	.	.	.	.	.	.	.	rs572392165	8/10	PASS	ENST00000301295	Transcript	.	T:0.0002	ENSG00000160505	22943	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.276)	T:0.001	deleterious(0)	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,missense_variant,p.Thr401Met,ENST00000589437,;NLRP4,missense_variant,p.Thr891Met,ENST00000301295,;NLRP4,missense_variant,p.Thr835Met,ENST00000346986,;NLRP4,missense_variant,p.Thr816Met,ENST00000587891,;	3094	138	143	SUCCESS
OLFM3	118427	.	GRCh37	1	102271685	102271685	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	44	88	0	ENST00000338858.5:c.706A>G	p.Thr236Ala	p.T236A	ENST00000338858		236	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS30781.1	646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGGTTCCAG	NONE	.	.	PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:SSF50969	.	.	ENSP00000359121	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.253)	.	tolerated(0.13)	.	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,missense_variant,p.Thr236Ala,ENST00000338858,;OLFM3,missense_variant,p.Thr216Ala,ENST00000370103,;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;	860	88	95	SUCCESS
LRIF1	55791	.	GRCh37	1	111494486	111494486	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	67	0	ENST00000369763.4:c.1020C>A	p.Ile340=	p.I340=	ENST00000369763	NM_018372.3	340	atC/atA	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS30800.1	1020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATCGATGGT	NONE	.	.	hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2	.	.	ENSP00000358778	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000369763	Transcript	.	.	ENSG00000121931	30299	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIF1_HUMAN	LRIF1	HGNC	.	.	UPI0000205296	SNV	LRIF1,synonymous_variant,p.%3D,ENST00000369763,;LRIF1,intron_variant,,ENST00000494675,;LRIF1,intron_variant,,ENST00000485275,;RP11-96K19.2,intron_variant,,ENST00000440689,;	1411	67	45	SUCCESS
FAM72B	653820	.	GRCh37	1	120839624	120839624	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	49	0	ENST00000369390.3:c.-210G>A		p.*70*	ENST00000369390	NM_001100910.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41374.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTGCCACG	NONE	.	.	.	.	.	ENSP00000358397	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369390	Transcript	.	.	ENSG00000188610	24805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA72B_HUMAN	FAM72B	HGNC	Q5QP12_HUMAN	.	UPI000046FF4E	SNV	FAM72B,5_prime_UTR_variant,,ENST00000369390,;FAM72B,5_prime_UTR_variant,,ENST00000355228,;FAM72B,intron_variant,,ENST00000452190,;RP11-439A17.7,upstream_gene_variant,,ENST00000412759,;FAM72B,intron_variant,,ENST00000468129,;FAM72B,intron_variant,,ENST00000471903,;FAM72B,downstream_gene_variant,,ENST00000480765,;	620	50	38	SUCCESS
RN7SL657P	107074708	.	GRCh37	1	1341096	1341096	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	30	59	0	ENST00000582431.1:n.37T>C		p.*13*	ENST00000582431				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS26.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGATTAGC	NONE	.	.	.	.	.	ENSP00000341082	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000344843	Transcript	.	.	ENSG00000242485	14478	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM20_HUMAN	MRPL20	HGNC	.	.	UPI000006F0A8	SNV	MRPL20,synonymous_variant,p.%3D,ENST00000482352,;MRPL20,intron_variant,,ENST00000492508,;MRPL20,intron_variant,,ENST00000344843,;RP4-758J18.2,downstream_gene_variant,,ENST00000444362,;RP4-758J18.2,downstream_gene_variant,,ENST00000448629,;RP4-758J18.13,upstream_gene_variant,,ENST00000607307,;RN7SL657P,non_coding_transcript_exon_variant,,ENST00000582431,;MRPL20,intron_variant,,ENST00000493287,;MRPL20,downstream_gene_variant,,ENST00000477686,;RP4-758J18.2,downstream_gene_variant,,ENST00000453521,;MRPL20,intron_variant,,ENST00000487659,;RP4-758J18.2,downstream_gene_variant,,ENST00000572242,;RP4-758J18.2,downstream_gene_variant,,ENST00000447725,;RP4-758J18.2,downstream_gene_variant,,ENST00000418833,;	.	59	45	SUCCESS
BCL9	607	.	GRCh37	1	147092530	147092530	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	38	0	ENST00000234739.3:c.2569T>C	p.Ser857Pro	p.S857P	ENST00000234739	NM_004326.3	857	Tcc/Ccc	0	.	.	.	.	.	C	S/P	protein_coding	YES	CCDS30833.1	2569	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCATTCCCCA	NONE	.	.	hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5	.	.	ENSP00000234739	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000234739	Transcript	.	.	ENSG00000116128	1008	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.958)	.	deleterious(0)	.	BCL9_HUMAN	BCL9	HGNC	.	.	UPI000013C9B9	SNV	BCL9,missense_variant,p.Ser857Pro,ENST00000234739,;BCL9,downstream_gene_variant,,ENST00000473292,;	3309	38	67	SUCCESS
TCHH	7062	.	GRCh37	1	152083351	152083351	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	21	55	0	ENST00000368804.1:c.2342G>T	p.Arg781Leu	p.R781L	ENST00000368804	NM_007113.3	781	cGt/cTt	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS41396.1	2342	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGACGGCCC	NONE	.	.	.	.	.	ENSP00000357794	.	2/2	.	.	.	.	.	.	.	.	COSM4022338	2/2	PASS	ENST00000368804	Transcript	.	.	ENSG00000159450	11791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	unknown(0)	.	.	1	TRHY_HUMAN	TCHH	HGNC	Q5D861_HUMAN,A2RRS3_HUMAN	.	UPI0000458A5E	SNV	TCHH,missense_variant,p.Arg781Leu,ENST00000368804,;	2342	55	79	SUCCESS
FLG	2312	.	GRCh37	1	152281292	152281292	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1195638038	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	16	95	0	ENST00000368799.1:c.6070C>T	p.His2024Tyr	p.H2024Y	ENST00000368799	NM_002016.1	2024	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS30860.1	6070	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGCCCAA	NONE	.	.	Pfam_domain:PF03516	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.415)	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,missense_variant,p.His2024Tyr,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	6106	95	135	SUCCESS
LCE2D	353141	.	GRCh37	1	152636635	152636635	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	54	191	0	ENST00000368784.1:c.54C>A	p.Pro18=	p.P18=	ENST00000368784	NM_178430.3	18	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS1018.1	54	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCAAGTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Prints_domain:PR00021	.	.	ENSP00000357773	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368784	Transcript	.	.	ENSG00000187223	16518	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE2D_HUMAN	LCE2D	HGNC	.	.	UPI00001927D4	SNV	LCE2D,synonymous_variant,p.%3D,ENST00000368784,;	109	191	255	SUCCESS
PYGO2	90780	.	GRCh37	1	154931793	154931793	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	39	128	0	ENST00000368457.2:c.683A>T	p.Gln228Leu	p.Q228L	ENST00000368457	NM_138300.3	228	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS1075.1	683	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTGGAGA	NONE	.	.	hmmpanther:PTHR23194:SF7,hmmpanther:PTHR23194	.	.	ENSP00000357442	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368457	Transcript	.	.	ENSG00000163348	30257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	tolerated(0.22)	.	PYGO2_HUMAN	PYGO2	HGNC	Q5T171_HUMAN,Q5T170_HUMAN	.	UPI00000015CD	SNV	PYGO2,missense_variant,p.Gln191Leu,ENST00000368456,;PYGO2,missense_variant,p.Gln228Leu,ENST00000368457,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000448116,;SHC1,downstream_gene_variant,,ENST00000368445,;PBXIP1,upstream_gene_variant,,ENST00000368460,;PBXIP1,upstream_gene_variant,,ENST00000539880,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000368453,;PBXIP1,upstream_gene_variant,,ENST00000368465,;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000368463,;SHC1,downstream_gene_variant,,ENST00000368450,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	855	128	171	SUCCESS
RUSC1	23623	.	GRCh37	1	155292300	155292300	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	86	242	0	ENST00000368352.5:c.736T>C	p.Trp246Arg	p.W246R	ENST00000368352	NM_001105203.1	246	Tgg/Cgg	0	.	.	.	.	.	C	W/R	protein_coding	YES	CCDS41410.1	736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAATGGAAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15591	.	.	ENSP00000357336	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	deleterious_low_confidence(0)	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,missense_variant,p.Trp246Arg,ENST00000368352,;RUSC1,missense_variant,p.Trp246Arg,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,intron_variant,,ENST00000450199,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,upstream_gene_variant,,ENST00000543656,;RUSC1-AS1,upstream_gene_variant,,ENST00000446880,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	887	242	334	SUCCESS
FCRL5	83416	.	GRCh37	1	157504366	157504366	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	192	46	171	0	ENST00000361835.3:c.1681+38T>A		p.*561*	ENST00000361835	NM_001195388.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1165.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAGCCAG	NONE	.	.	.	.	.	ENSP00000354691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361835	Transcript	.	.	ENSG00000143297	18508	.	.	MODIFIER	8/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCRL5_HUMAN	FCRL5	HGNC	.	.	UPI0000458907	SNV	FCRL5,synonymous_variant,p.%3D,ENST00000368189,;FCRL5,intron_variant,,ENST00000361835,;FCRL5,intron_variant,,ENST00000368190,;FCRL5,intron_variant,,ENST00000356953,;FCRL5,intron_variant,,ENST00000368191,;	.	171	238	SUCCESS
PADI1	29943	.	GRCh37	1	17555182	17555182	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	100	0	ENST00000375471.4:c.715G>T	p.Glu239Ter	p.E239*	ENST00000375471	NM_013358.2	239	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS178.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTGAGCGA	NONE	.	.	hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,Superfamily_domains:0044952	.	.	ENSP00000364620	.	7/16	.	.	.	.	.	.	.	.	.	7/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,stop_gained,p.Glu239Ter,ENST00000375471,;PADI1,upstream_gene_variant,,ENST00000537499,;PADI1,upstream_gene_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000413717,;PADI1,downstream_gene_variant,,ENST00000483501,;	807	100	66	SUCCESS
RFWD2	0	.	GRCh37	1	175916344	175916344	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	405	113	319	1	ENST00000367669.3:c.2165A>T	p.Gln722Leu	p.Q722L	ENST00000367669	NM_022457.5	722	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS30944.1	2165	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTGACTG	NONE	.	.	hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	.	.	ENSP00000356641	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.104)	.	deleterious(0.01)	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,missense_variant,p.Gln698Leu,ENST00000308769,;RFWD2,missense_variant,p.Gln557Leu,ENST00000367666,;RFWD2,missense_variant,p.Gln722Leu,ENST00000367669,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000482305,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2680	320	519	SUCCESS
BRINP2	57795	.	GRCh37	1	177199111	177199111	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	90	213	0	ENST00000361539.4:c.99T>A	p.Ala33=	p.A33=	ENST00000361539	NM_021165.2	33	gcT/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS1320.1	99	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGCTGTCTC	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR15564:SF5,hmmpanther:PTHR15564	.	.	ENSP00000354481	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000361539	Transcript	.	.	ENSG00000198797	13746	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP2_HUMAN	BRINP2	HGNC	.	.	UPI000006DF55	SNV	BRINP2,synonymous_variant,p.%3D,ENST00000361539,;	411	213	293	SUCCESS
TEX35	84066	.	GRCh37	1	178485749	178485749	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	rs774362075	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	40	106	0	ENST00000319416.2:c.217-1G>T		p.X73_splice	ENST00000319416	NM_032126.4	73		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1323.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTAGATAAA	NONE	.	.	.	.	.	ENSP00000323795	.	.	.	.	.	.	.	.	.	.	rs774362075,COSM900164,COSM1583797	.	PASS	ENST00000319416	Transcript	.	.	ENSG00000240021	25366	.	.	HIGH	4/8	PRIMARY	.	.	.	.	5	0,1,1	.	.	.	.	.	0,1,1	TEX35_HUMAN	TEX35	HGNC	.	.	UPI00001405CF	SNV	TEX35,splice_acceptor_variant,,ENST00000367643,;TEX35,splice_acceptor_variant,,ENST00000319416,;TEX35,splice_acceptor_variant,,ENST00000258298,;TEX35,splice_acceptor_variant,,ENST00000367641,;TEX35,splice_acceptor_variant,,ENST00000367639,;TEX35,intron_variant,,ENST00000367642,;TEX35,upstream_gene_variant,,ENST00000442872,;TEX35,missense_variant,p.Asp80Tyr,ENST00000419909,;	.	106	159	SUCCESS
RGSL1	353299	.	GRCh37	1	182517465	182517465	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	29	90	0	ENST00000294854.8:c.2683G>A	p.Val895Ile	p.V895I	ENST00000294854	NM_001137669.1	895	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS58049.1	2683	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGTCAGT	NONE	.	.	hmmpanther:PTHR10845:SF137,hmmpanther:PTHR10845	.	.	ENSP00000457748	.	16/22	.	.	.	.	.	.	.	.	COSM1336945,COSM1336946	16/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.983)	.	deleterious(0.02)	1,1	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,missense_variant,p.Val895Ile,ENST00000294854,;RGSL1,missense_variant,p.Val930Ile,ENST00000542961,;RGSL1,missense_variant,p.Val930Ile,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000415960,;RGSL1,non_coding_transcript_exon_variant,,ENST00000436031,;	2703	90	119	SUCCESS
TPR	7175	.	GRCh37	1	186329450	186329450	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	475	60	337	0	ENST00000367478.4:c.1146A>G	p.Ala382=	p.A382=	ENST00000367478	NM_003292.2	382	gcA/gcG	0	.	.	.	.	.	C	A	protein_coding	YES	CCDS41446.1	1146	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCTGCAGT	NONE	.	.	hmmpanther:PTHR18898	.	.	ENSP00000356448	.	11/51	.	.	.	.	.	.	.	.	.	11/51	PASS	ENST00000367478	Transcript	.	.	ENSG00000047410	12017	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPR_HUMAN	TPR	HGNC	Q9UE33_HUMAN	.	UPI000046FCF4	SNV	TPR,synonymous_variant,p.%3D,ENST00000367478,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,upstream_gene_variant,,ENST00000491783,;	1443	337	536	SUCCESS
RGS1	5996	.	GRCh37	1	192548402	192548402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	279	241	322	0	ENST00000367459.3:c.580G>T	p.Asp194Tyr	p.D194Y	ENST00000367459	NM_002922.3	194	Gat/Tat	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS1375.2	580	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGATATT	NONE	.	.	PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF34,Gene3D:1.10.196.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	.	.	ENSP00000356429	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367459	Transcript	.	.	ENSG00000090104	9991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.755)	.	deleterious(0)	.	RGS1_HUMAN	RGS1	HGNC	.	.	UPI0000169CF2	SNV	RGS1,missense_variant,p.Asp194Tyr,ENST00000367459,;RGS1,downstream_gene_variant,,ENST00000469578,;RGS1,non_coding_transcript_exon_variant,,ENST00000498352,;RGS1,downstream_gene_variant,,ENST00000583155,;RGS1,downstream_gene_variant,,ENST00000462589,;RGS1,downstream_gene_variant,,ENST00000474373,;	646	322	521	SUCCESS
KIF14	9928	.	GRCh37	1	200550340	200550340	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	58	172	0	ENST00000367350.4:c.3324T>C	p.Tyr1108=	p.Y1108=	ENST00000367350	NM_014875.2	1108	taT/taC	0	.	.	.	.	.	G	Y	protein_coding	YES	CCDS30963.1	3324	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATAGTA	NONE	.	.	hmmpanther:PTHR24115:SF128,hmmpanther:PTHR24115	.	.	ENSP00000356319	.	20/30	.	.	.	.	.	.	.	.	.	20/30	PASS	ENST00000367350	Transcript	.	.	ENSG00000118193	19181	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KIF14_HUMAN	KIF14	HGNC	.	.	UPI000012DDA3	SNV	KIF14,synonymous_variant,p.%3D,ENST00000367350,;	3763	172	296	SUCCESS
PFKFB2	5208	.	GRCh37	1	207245694	207245694	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs763511852	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	54	131	0	ENST00000367080.3:c.1496A>T	p.Asp499Val	p.D499V	ENST00000367080	NM_006212.2	499	gAc/gTc	0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS31004.1	1496	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGACATGC	NONE	.	.	hmmpanther:PTHR10606:SF13,hmmpanther:PTHR10606	.	.	ENSP00000356047	.	15/15	.	.	.	.	.	.	.	.	rs763511852	15/15	PASS	ENST00000367080	Transcript	.	.	ENSG00000123836	8873	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	.	.	F262_HUMAN	PFKFB2	HGNC	B0FLL2_HUMAN	.	UPI000012A3F0	SNV	PFKFB2,missense_variant,p.Asp499Val,ENST00000367080,;PFKFB2,missense_variant,p.Asp466Val,ENST00000545806,;PFKFB2,intron_variant,,ENST00000541914,;PFKFB2,intron_variant,,ENST00000367079,;PFKFB2,intron_variant,,ENST00000411990,;PFKFB2,intron_variant,,ENST00000473310,;PFKFB2,intron_variant,,ENST00000483688,;	1620	131	219	SUCCESS
CR2	1380	.	GRCh37	1	207643282	207643282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	172	24	101	0	ENST00000367058.3:c.1060C>A	p.Pro354Thr	p.P354T	ENST00000367058	NM_001877.4	354	Ccc/Acc	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS31007.1	1060	RADIA|MUTECT|MUSE|VARSCANS	.	CACATCCCCAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF330,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000356024	.	6/20	.	.	.	.	.	.	.	.	.	6/20	PASS	ENST00000367057	Transcript	.	.	ENSG00000117322	2336	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CR2_HUMAN	CR2	HGNC	.	.	UPI0000366600	SNV	CR2,missense_variant,p.Pro354Thr,ENST00000458541,;CR2,missense_variant,p.Pro354Thr,ENST00000367057,;CR2,missense_variant,p.Pro354Thr,ENST00000367058,;CR2,missense_variant,p.Pro354Thr,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;CR2,downstream_gene_variant,,ENST00000479186,;	1249	101	196	SUCCESS
CAPN8	388743	.	GRCh37	1	223853118	223853118	+	synonymous_variant	Silent	SNP	C	C	T	rs969392356	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	33	65	0	ENST00000366872.5:c.231G>A	p.Arg77=	p.R77=	ENST00000366872		77	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	.	231	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCCGCTT	NONE	.	.	PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF52,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	.	.	ENSP00000355837	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000366872	Transcript	.	.	ENSG00000203697	1485	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN8_HUMAN	CAPN8	HGNC	.	.	UPI0001AE7978	SNV	CAPN8,synonymous_variant,p.%3D,ENST00000419193,;CAPN8,synonymous_variant,p.%3D,ENST00000366872,;CAPN8,synonymous_variant,p.%3D,ENST00000366873,;	231	65	116	SUCCESS
ZP4	57829	.	GRCh37	1	238048573	238048573	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	122	161	0	ENST00000366570.4:c.1203T>A	p.Pro401=	p.P401=	ENST00000366570	NM_021186.3	401	ccT/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS1615.1	1203	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGACAGGGAT	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034	.	.	ENSP00000355529	.	9/12	.	.	.	.	.	.	.	.	.	9/12	PASS	ENST00000366570	Transcript	.	.	ENSG00000116996	15770	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZP4_HUMAN	ZP4	HGNC	.	.	UPI000006F0E4	SNV	ZP4,synonymous_variant,p.%3D,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	1362	161	257	SUCCESS
FMN2	56776	.	GRCh37	1	240601442	240601442	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	79	0	ENST00000319653.9:c.4992C>A	p.Ile1664=	p.I1664=	ENST00000319653	NM_020066.4	1664	atC/atA	0	.	.	.	.	.	A	I	protein_coding	YES	CCDS31069.2	4992	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATCTGGCA	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF185,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000318884	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,synonymous_variant,p.%3D,ENST00000545751,;FMN2,synonymous_variant,p.%3D,ENST00000319653,;	5222	79	130	SUCCESS
LRRC41	10489	.	GRCh37	1	46751145	46751145	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	68	0	ENST00000343304.6:c.1384A>G	p.Ile462Val	p.I462V	ENST00000343304	NM_006369.4	462	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS533.1	1384	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGATGCTGC	NONE	.	.	Superfamily_domains:SSF52047,SMART_domains:SM00368,hmmpanther:PTHR15354:SF1,hmmpanther:PTHR15354	.	.	ENSP00000343298	.	4/10	.	.	.	.	.	.	.	.	.	4/10	PASS	ENST00000343304	Transcript	.	.	ENSG00000132128	16917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.068)	.	tolerated(1)	.	LRC41_HUMAN	LRRC41	HGNC	.	.	UPI0000225CC7	SNV	LRRC41,missense_variant,p.Ile462Val,ENST00000343304,;LRRC41,non_coding_transcript_exon_variant,,ENST00000498402,;LRRC41,non_coding_transcript_exon_variant,,ENST00000472710,;LRRC41,upstream_gene_variant,,ENST00000496156,;	1670	68	46	SUCCESS
NPHP4	261734	.	GRCh37	1	5927958	5927958	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	32	86	0	ENST00000378156.4:c.3316-2A>C		p.X1106_splice	ENST00000378156	NM_015102.3	1106		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44052.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGTGAG	NONE	.	.	.	.	.	ENSP00000367398	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378156	Transcript	.	.	ENSG00000131697	19104	.	.	HIGH	23/29	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,splice_acceptor_variant,,ENST00000378156,;NPHP4,splice_acceptor_variant,,ENST00000478423,;NPHP4,splice_acceptor_variant,,ENST00000378169,;NPHP4,splice_acceptor_variant,,ENST00000489180,;NPHP4,splice_acceptor_variant,,ENST00000468253,;NPHP4,non_coding_transcript_exon_variant,,ENST00000378161,;NPHP4,upstream_gene_variant,,ENST00000460696,;	.	86	60	SUCCESS
ERRFI1	54206	.	GRCh37	1	8073423	8073423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	45	150	0	ENST00000377482.5:c.1236G>T	p.Arg412Ser	p.R412S	ENST00000377482	NM_018948.3	412	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS94.1	1236	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCCTAAA	NONE	.	.	hmmpanther:PTHR14254	.	.	ENSP00000366702	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377482	Transcript	.	.	ENSG00000116285	18185	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.521)	.	deleterious(0.02)	.	ERRFI_HUMAN	ERRFI1	HGNC	I6S2Y9_HUMAN	.	UPI000012F0FC	SNV	ERRFI1,missense_variant,p.Arg412Ser,ENST00000377482,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,downstream_gene_variant,,ENST00000469499,;ERRFI1,downstream_gene_variant,,ENST00000467067,;ERRFI1,downstream_gene_variant,,ENST00000487559,;	1460	150	122	SUCCESS
NINL	22981	.	GRCh37	20	25478971	25478971	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	38	0	ENST00000278886.6:c.1044C>A	p.Phe348Leu	p.F348L	ENST00000278886	NM_025176.4	348	ttC/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS33452.1	1044	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCTGAAGTC	NONE	.	.	hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12	.	.	ENSP00000278886	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000278886	Transcript	.	.	ENSG00000101004	29163	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.901)	.	deleterious(0)	.	NINL_HUMAN	NINL	HGNC	.	.	UPI0000206B64	SNV	NINL,missense_variant,p.Phe348Leu,ENST00000422516,;NINL,missense_variant,p.Phe348Leu,ENST00000278886,;NINL,upstream_gene_variant,,ENST00000461642,;	1118	38	35	SUCCESS
BPIFB3	359710	.	GRCh37	20	31643273	31643273	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	45	0	ENST00000375494.3:c.44G>T	p.Trp15Leu	p.W15L	ENST00000375494	NM_182658.1	15	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS13212.1	44	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCTGGGGCC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF42	.	.	ENSP00000364643	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000375494	Transcript	.	.	ENSG00000186190	16178	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.641)	.	deleterious(0.04)	.	BPIB3_HUMAN	BPIFB3	HGNC	.	.	UPI00001B2207	SNV	BPIFB3,missense_variant,p.Trp15Leu,ENST00000375494,;AL121756.1,downstream_gene_variant,,ENST00000579962,;	44	45	56	SUCCESS
CBFA2T2	9139	.	GRCh37	20	32207337	32207337	+	synonymous_variant	Silent	SNP	A	A	G	rs750813560	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	21	93	0	ENST00000346541.3:c.462A>G	p.Thr154=	p.T154=	ENST00000346541	NM_005093.3	154	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS13221.1	462	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACAATTGA	NONE	byFrequency	.	Prints_domain:PR01875,Superfamily_domains:SSF158553,SMART_domains:SM00549,Pfam_domain:PF07531,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13,PROSITE_profiles:PS51119	.	.	ENSP00000262653	.	5/12	.	.	.	.	.	.	.	.	rs750813560	5/12	PASS	ENST00000346541	Transcript	.	.	ENSG00000078699	1536	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTG8R_HUMAN	CBFA2T2	HGNC	Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN	.	UPI0000073E07	SNV	CBFA2T2,synonymous_variant,p.%3D,ENST00000397798,;CBFA2T2,synonymous_variant,p.%3D,ENST00000375279,;CBFA2T2,synonymous_variant,p.%3D,ENST00000346541,;CBFA2T2,synonymous_variant,p.%3D,ENST00000342704,;CBFA2T2,synonymous_variant,p.%3D,ENST00000492345,;CBFA2T2,synonymous_variant,p.%3D,ENST00000344201,;CBFA2T2,synonymous_variant,p.%3D,ENST00000397800,;CBFA2T2,synonymous_variant,p.%3D,ENST00000359606,;CBFA2T2,upstream_gene_variant,,ENST00000491618,;CBFA2T2,downstream_gene_variant,,ENST00000471007,;	999	93	98	SUCCESS
MYBL2	4605	.	GRCh37	20	42343871	42343871	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	83	228	0	ENST00000217026.4:c.1922A>T	p.Glu641Val	p.E641V	ENST00000217026	NM_002466.3	641	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13322.1	1922	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGAGAAGG	NONE	.	.	hmmpanther:PTHR10641:SF37,hmmpanther:PTHR10641	.	.	ENSP00000217026	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000217026	Transcript	.	.	ENSG00000101057	7548	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.501)	.	deleterious(0.03)	.	MYBB_HUMAN	MYBL2	HGNC	.	.	UPI000012FAE1	SNV	MYBL2,missense_variant,p.Glu641Val,ENST00000217026,;MYBL2,missense_variant,p.Glu617Val,ENST00000396863,;	2049	228	215	SUCCESS
PHACTR3	116154	.	GRCh37	20	58348348	58348348	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs934646941	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	24	121	0	ENST00000371015.1:c.766T>C	p.Phe256Leu	p.F256L	ENST00000371015	NM_080672.4	256	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS13480.1	766	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTCTTCCAA	NONE	.	.	hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7	.	.	ENSP00000360054	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000371015	Transcript	.	.	ENSG00000087495	15833	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.61)	.	PHAR3_HUMAN	PHACTR3	HGNC	F6RP66_HUMAN	.	UPI000006D452	SNV	PHACTR3,missense_variant,p.Phe215Leu,ENST00000355648,;PHACTR3,missense_variant,p.Phe215Leu,ENST00000541461,;PHACTR3,missense_variant,p.Phe145Leu,ENST00000361300,;PHACTR3,missense_variant,p.Phe215Leu,ENST00000395636,;PHACTR3,missense_variant,p.Phe256Leu,ENST00000371015,;PHACTR3,missense_variant,p.Phe145Leu,ENST00000395639,;PHACTR3,missense_variant,p.Phe253Leu,ENST00000359926,;	1233	121	101	SUCCESS
BAGE2	85319	.	GRCh37	21	11026740	11026740	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	318	8	419	1	ENST00000470054.1:n.1696G>A		p.*566*	ENST00000470054				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	AACAGCTCCGA	NONE	.	.	.	.	.	.	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000470054	Transcript	.	.	ENSG00000187172	15723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	BAGE2	HGNC	.	.	.	SNV	TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;BAGE2,non_coding_transcript_exon_variant,,ENST00000470054,;BAGE2,non_coding_transcript_exon_variant,,ENST00000496773,;	1696	420	327	SUCCESS
B3GALT5	10317	.	GRCh37	21	41032874	41032874	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	98	0	ENST00000343118.4:c.388A>G	p.Asn130Asp	p.N130D	ENST00000343118	NM_033171.2	130	Aat/Gat	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS13667.1	388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTACAATCTG	NONE	.	.	hmmpanther:PTHR11214:SF18,hmmpanther:PTHR11214,Pfam_domain:PF01762	.	.	ENSP00000369994	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000380620	Transcript	.	.	ENSG00000183778	920	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	B3GT5_HUMAN	B3GALT5	HGNC	.	.	UPI0000126713	SNV	B3GALT5,missense_variant,p.Asn130Asp,ENST00000380620,;B3GALT5,missense_variant,p.Asn130Asp,ENST00000398714,;B3GALT5,missense_variant,p.Asn130Asp,ENST00000343118,;B3GALT5,missense_variant,p.Asn130Asp,ENST00000380618,;AF064860.5,intron_variant,,ENST00000416555,;	980	98	82	SUCCESS
UMODL1	89766	.	GRCh37	21	43504289	43504289	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	22	125	1	ENST00000408910.2:c.415T>C	p.Cys139Arg	p.C139R	ENST00000408910	NM_001004416.2	139	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS42935.1	415	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGACTGTCCT	NONE	.	.	Superfamily_domains:SSF57256,SMART_domains:SM00217,Pfam_domain:PF00095,Gene3D:4.10.75.10,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,PROSITE_profiles:PS51390	.	.	ENSP00000386126	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000408989	Transcript	.	.	ENSG00000177398	12560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.034)	.	deleterious(0)	.	UROL1_HUMAN	UMODL1	HGNC	Q6L9N9_HUMAN	.	UPI0000D6254B	SNV	UMODL1,missense_variant,p.Cys67Arg,ENST00000400424,;UMODL1,missense_variant,p.Cys67Arg,ENST00000400427,;UMODL1,missense_variant,p.Cys139Arg,ENST00000408910,;UMODL1,missense_variant,p.Cys139Arg,ENST00000408989,;UMODL1,upstream_gene_variant,,ENST00000466434,;UMODL1,upstream_gene_variant,,ENST00000497243,;UMODL1,upstream_gene_variant,,ENST00000468982,;UMODL1,upstream_gene_variant,,ENST00000491559,;UMODL1,upstream_gene_variant,,ENST00000400421,;UMODL1,upstream_gene_variant,,ENST00000485357,;	415	126	82	SUCCESS
MCM3AP	8888	.	GRCh37	21	47692553	47692553	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	19	98	0	ENST00000291688.1:c.2387A>C	p.Lys796Thr	p.K796T	ENST00000291688	NM_003906.3	796	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS13734.1	2387	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCTTGTTT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12436:SF18,hmmpanther:PTHR12436,Pfam_domain:PF03399	.	.	ENSP00000380820	.	9/29	.	.	.	.	.	.	.	.	.	9/29	PASS	ENST00000397708	Transcript	.	.	ENSG00000160294	6946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.681)	.	deleterious(0.01)	.	GANP_HUMAN	MCM3AP	HGNC	N0GVG8_HUMAN,B3KWZ4_HUMAN	.	UPI000012ED4A	SNV	MCM3AP,missense_variant,p.Lys796Thr,ENST00000291688,;MCM3AP,missense_variant,p.Lys796Thr,ENST00000397708,;MCM3AP,upstream_gene_variant,,ENST00000479557,;MCM3AP,upstream_gene_variant,,ENST00000486937,;	2642	98	82	SUCCESS
MED15	51586	.	GRCh37	22	20862470	20862470	+	intron_variant	Intron	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	27	0	ENST00000263205.7:c.68+437T>C		p.*23*	ENST00000263205	NM_001003891.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33602.1	.	MUTECT|MUSE	.	TAAGATGAGAT	NONE	.	.	.	.	.	ENSP00000263205	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263205	Transcript	.	.	ENSG00000099917	14248	.	.	MODIFIER	1/17	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MED15_HUMAN	MED15	HGNC	Q69YK5_HUMAN,C9JZV5_HUMAN,C9JM58_HUMAN,C9JGN2_HUMAN,C9J1I1_HUMAN,B4DM43_HUMAN,B3KWF1_HUMAN	.	UPI00001313C4	SNV	MED15,5_prime_UTR_variant,,ENST00000438962,;MED15,5_prime_UTR_variant,,ENST00000541476,;MED15,intron_variant,,ENST00000542773,;MED15,intron_variant,,ENST00000414658,;MED15,intron_variant,,ENST00000432052,;MED15,intron_variant,,ENST00000263205,;MED15,intron_variant,,ENST00000292733,;MED15,intron_variant,,ENST00000382974,;MED15,intron_variant,,ENST00000406969,;MED15,intron_variant,,ENST00000445987,;MED15,intron_variant,,ENST00000425759,;MED15,intron_variant,,ENST00000477824,;MED15,5_prime_UTR_variant,,ENST00000441501,;MED15,intron_variant,,ENST00000444094,;MED15,intron_variant,,ENST00000433831,;MED15,intron_variant,,ENST00000486656,;	.	27	24	SUCCESS
CRYBB2	1415	.	GRCh37	22	25627596	25627596	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	38	161	0	ENST00000398215.2:c.475T>A	p.Tyr159Asn	p.Y159N	ENST00000398215	NM_000496.2	159	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS13831.1	475	RADIA|MUTECT|MUSE	.	CCGGCTACCGT	NONE	.	.	PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF11,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695	.	.	ENSP00000381273	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000398215	Transcript	.	.	ENSG00000244752	2398	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CRBB2_HUMAN	CRYBB2	HGNC	R4UMM2_HUMAN	.	UPI000013C6A2	SNV	CRYBB2,missense_variant,p.Tyr159Asn,ENST00000398215,;	646	161	169	SUCCESS
CHEK2	11200	.	GRCh37	22	29130702	29130702	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779607427	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	49	0	ENST00000328354.6:c.8G>A	p.Arg3Gln	p.R3Q	ENST00000328354	NM_007194.3	3	cGg/cAg	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS33629.1	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCGAGAC	NONE	byFrequency	.	hmmpanther:PTHR24344,hmmpanther:PTHR24344:SF21	.	.	ENSP00000372023	.	2/16	.	.	.	.	.	.	.	.	rs779607427	2/16	PASS	ENST00000382580	Transcript	.	.	ENSG00000183765	16627	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated_low_confidence(0.11)	.	CHK2_HUMAN	CHEK2	HGNC	B7ZBF2_HUMAN	.	UPI000034E4A3	SNV	CHEK2,missense_variant,p.Arg3Gln,ENST00000447421,;CHEK2,missense_variant,p.Arg3Gln,ENST00000404276,;CHEK2,missense_variant,p.Arg3Gln,ENST00000439200,;CHEK2,missense_variant,p.Arg3Gln,ENST00000382580,;CHEK2,missense_variant,p.Arg3Gln,ENST00000382578,;CHEK2,missense_variant,p.Arg3Gln,ENST00000348295,;CHEK2,missense_variant,p.Arg3Gln,ENST00000328354,;CHEK2,missense_variant,p.Arg3Gln,ENST00000405598,;CHEK2,missense_variant,p.Arg3Gln,ENST00000402731,;CHEK2,missense_variant,p.Arg3Gln,ENST00000382566,;CHEK2,missense_variant,p.Arg3Gln,ENST00000382565,;CHEK2,missense_variant,p.Arg3Gln,ENST00000403642,;CHEK2,missense_variant,p.Arg13Gln,ENST00000398017,;CHEK2,5_prime_UTR_variant,,ENST00000544772,;CHEK2,intron_variant,,ENST00000425190,;CHEK2,missense_variant,p.Arg3Gln,ENST00000433728,;CHEK2,missense_variant,p.Arg3Gln,ENST00000417588,;CHEK2,missense_variant,p.Arg3Gln,ENST00000433028,;CHEK2,missense_variant,p.Arg3Gln,ENST00000416671,;CHEK2,missense_variant,p.Arg3Gln,ENST00000448511,;CHEK2,upstream_gene_variant,,ENST00000454252,;	84	49	50	SUCCESS
HMGXB4	10042	.	GRCh37	22	35661318	35661318	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	122	26	147	0	ENST00000216106.5:c.937T>C	p.Tyr313His	p.Y313H	ENST00000216106	NM_001003681.2	313	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS33641.1	937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTTACCGA	NONE	.	.	hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169	.	.	ENSP00000216106	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000216106	Transcript	.	.	ENSG00000100281	5003	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	HMGX4_HUMAN	HMGXB4	HGNC	Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN	.	UPI00003765B4	SNV	HMGXB4,missense_variant,p.Tyr204His,ENST00000444518,;HMGXB4,missense_variant,p.Tyr204His,ENST00000455359,;HMGXB4,missense_variant,p.Tyr313His,ENST00000216106,;HMGXB4,missense_variant,p.Tyr204His,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000464480,;HMGXB4,downstream_gene_variant,,ENST00000498325,;	1065	147	148	SUCCESS
SREBF2	6721	.	GRCh37	22	42280874	42280874	+	synonymous_variant	Silent	SNP	C	C	T	rs200493376	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	25	114	0	ENST00000361204.4:c.2067C>T	p.Ser689=	p.S689=	ENST00000361204	NM_004599.3	689	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14023.1	2067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCCGATGT	NONE	byCluster	.	hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565	.	.	ENSP00000354476	.	11/19	.	.	.	.	.	.	.	.	rs200493376	11/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	SNV	SREBF2,synonymous_variant,p.%3D,ENST00000361204,;SREBF2,upstream_gene_variant,,ENST00000491541,;SREBF2,3_prime_UTR_variant,,ENST00000424354,;	2233	114	108	SUCCESS
MARCO	8685	.	GRCh37	2	119699782	119699782	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	26	0	ENST00000327097.4:c.-95A>G		p.*32*	ENST00000327097	NM_006770.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2124.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGTGGT	NONE	.	.	.	.	.	ENSP00000318916	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000327097	Transcript	.	.	ENSG00000019169	6895	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARCO_HUMAN	MARCO	HGNC	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN	.	UPI0000000DF8	SNV	MARCO,5_prime_UTR_variant,,ENST00000327097,;MARCO,upstream_gene_variant,,ENST00000412481,;MARCO,upstream_gene_variant,,ENST00000541757,;	41	26	37	SUCCESS
POTEF	728378	.	GRCh37	2	130865580	130865580	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	5	122	0	ENST00000357462.5:c.1126+2T>A		p.X376_splice	ENST00000357462		376		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46409.1	.	MUTECT|MUSE	.	GTCTTACCTGG	NONE	.	.	.	.	.	ENSP00000350052	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357462	Transcript	.	.	ENSG00000196604	33905	.	.	HIGH	6/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEF_HUMAN	POTEF	HGNC	.	.	UPI0000418FEA	SNV	POTEF,splice_donor_variant,,ENST00000361163,;POTEF,splice_donor_variant,,ENST00000357462,;POTEF,splice_donor_variant,,ENST00000360967,;POTEF,splice_donor_variant,,ENST00000409914,;RNU6-1049P,downstream_gene_variant,,ENST00000516414,;AC018804.3,intron_variant,,ENST00000433507,;	.	122	117	SUCCESS
NEB	4703	.	GRCh37	2	152473927	152473927	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs746519954	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	41	0	ENST00000172853.10:c.10403A>T	p.Asp3468Val	p.D3468V	ENST00000172853		3468	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS54407.1	11132	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTATCAGGC	NONE	byFrequency	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227	.	.	ENSP00000380505	.	75/182	.	.	.	.	.	.	.	.	rs746519954	75/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Asp3711Val,ENST00000603639,;NEB,missense_variant,p.Asp3468Val,ENST00000172853,;NEB,missense_variant,p.Asp3711Val,ENST00000427231,;NEB,missense_variant,p.Asp3711Val,ENST00000397345,;NEB,missense_variant,p.Asp3711Val,ENST00000604864,;NEB,missense_variant,p.Asp3468Val,ENST00000409198,;NEB,non_coding_transcript_exon_variant,,ENST00000486320,;	11335	41	44	SUCCESS
NEB	4703	.	GRCh37	2	152534508	152534508	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs754420039	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	103	0	ENST00000172853.10:c.3449A>T	p.Lys1150Met	p.K1150M	ENST00000172853		1150	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS54407.1	3449	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCTTAGCC	NONE	.	.	PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227	.	.	ENSP00000380505	.	33/182	.	.	.	.	.	.	.	.	rs754420039	33/182	PASS	ENST00000397345	Transcript	.	.	ENSG00000183091	7720	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.982)	.	.	.	.	NEB	HGNC	H7C2D0_HUMAN,F8WCL5_HUMAN	.	UPI0002065BA0	SNV	NEB,missense_variant,p.Lys1150Met,ENST00000603639,;NEB,missense_variant,p.Lys1150Met,ENST00000172853,;NEB,missense_variant,p.Lys1150Met,ENST00000427231,;NEB,missense_variant,p.Lys1150Met,ENST00000397345,;NEB,missense_variant,p.Lys1150Met,ENST00000604864,;NEB,missense_variant,p.Lys1150Met,ENST00000409198,;	3652	103	104	SUCCESS
GALNT13	114805	.	GRCh37	2	155303175	155303175	+	intron_variant	Intron	SNP	T	T	C	rs1481454291	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	50	135	0	ENST00000392825.3:c.1531-3748T>C		p.*511*	ENST00000392825	NM_052917.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2199.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATAGCAC	NONE	.	.	.	.	.	ENSP00000376570	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392825	Transcript	.	.	ENSG00000144278	23242	.	.	MODIFIER	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLT13_HUMAN	GALNT13	HGNC	Q68VI8_HUMAN	.	UPI0000051E22	SNV	GALNT13,synonymous_variant,p.%3D,ENST00000453715,;GALNT13,synonymous_variant,p.%3D,ENST00000409237,;GALNT13,intron_variant,,ENST00000392825,;GALNT13,intron_variant,,ENST00000422126,;GALNT13,intron_variant,,ENST00000450838,;AC009227.2,intron_variant,,ENST00000434635,;GALNT13,intron_variant,,ENST00000489553,;GALNT13,non_coding_transcript_exon_variant,,ENST00000494805,;	.	135	145	SUCCESS
COBLL1	22837	.	GRCh37	2	165557052	165557052	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	20	102	0	ENST00000392717.2:c.1671A>C	p.Glu557Asp	p.E557D	ENST00000392717		557	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS2223.2	1557	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTTTCTTG	NONE	.	.	hmmpanther:PTHR21557:SF2,hmmpanther:PTHR21557	.	.	ENSP00000341360	.	10/14	.	.	.	.	.	.	.	.	.	10/14	PASS	ENST00000342193	Transcript	.	.	ENSG00000082438	23571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	deleterious(0.04)	.	COBL1_HUMAN	COBLL1	HGNC	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN	.	UPI000007132B	SNV	COBLL1,missense_variant,p.Glu480Asp,ENST00000375458,;COBLL1,missense_variant,p.Glu518Asp,ENST00000409184,;COBLL1,missense_variant,p.Glu519Asp,ENST00000342193,;COBLL1,missense_variant,p.Glu557Asp,ENST00000392717,;COBLL1,missense_variant,p.Glu585Asp,ENST00000194871,;COBLL1,downstream_gene_variant,,ENST00000491126,;COBLL1,downstream_gene_variant,,ENST00000434366,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,downstream_gene_variant,,ENST00000460238,;COBLL1,upstream_gene_variant,,ENST00000489955,;COBLL1,downstream_gene_variant,,ENST00000456171,;	1773	102	96	SUCCESS
MYT1L	23040	.	GRCh37	2	1926174	1926174	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756469250	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	83	0	ENST00000399161.2:c.1367C>T	p.Ala456Val	p.A456V	ENST00000399161	NM_015025.2	456	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS46222.1	1367	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGCTTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	.	.	ENSP00000396103	.	10/25	.	.	.	.	.	.	.	.	rs756469250	10/25	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	tolerated(0.06)	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,missense_variant,p.Ala456Val,ENST00000399161,;MYT1L,missense_variant,p.Ala456Val,ENST00000428368,;MYT1L,missense_variant,p.Ala110Val,ENST00000602387,;	2037	83	98	SUCCESS
PLCL1	5334	.	GRCh37	2	198953586	198953586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	72	0	ENST00000428675.1:c.2720C>A	p.Ala907Glu	p.A907E	ENST00000428675	NM_006226.3	907	gCa/gAa	0	.	.	.	.	.	A	A/E	protein_coding	YES	CCDS2326.2	2720	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCAATCG	NONE	.	.	hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336	.	.	ENSP00000402861	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,missense_variant,p.Ala833Glu,ENST00000487695,;PLCL1,missense_variant,p.Ala907Glu,ENST00000428675,;PLCL1,missense_variant,p.Ala809Glu,ENST00000437704,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	3118	72	63	SUCCESS
INPP5D	3635	.	GRCh37	2	234078761	234078761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	23	141	0	ENST00000445964.1:c.605A>T	p.His202Leu	p.H202L	ENST00000445964		202	cAc/cTc	0	.	.	.	.	.	T	H/L	protein_coding	YES	.	1706	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCACCTCT	NONE	.	.	hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219	.	.	ENSP00000352575	.	17/29	.	.	.	.	.	.	.	.	.	17/29	PASS	ENST00000359570	Transcript	.	.	ENSG00000168918	6079	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.905)	.	deleterious(0)	.	SHIP1_HUMAN	INPP5D	HGNC	H0Y5Q9_HUMAN,C9JF09_HUMAN	.	UPI0002065B89	SNV	INPP5D,missense_variant,p.His568Leu,ENST00000538935,;INPP5D,missense_variant,p.His569Leu,ENST00000359570,;INPP5D,missense_variant,p.His202Leu,ENST00000435188,;INPP5D,missense_variant,p.His202Leu,ENST00000415617,;INPP5D,missense_variant,p.His202Leu,ENST00000445964,;INPP5D,missense_variant,p.His333Leu,ENST00000450745,;INPP5D,missense_variant,p.His333Leu,ENST00000455936,;INPP5D,non_coding_transcript_exon_variant,,ENST00000472517,;INPP5D,non_coding_transcript_exon_variant,,ENST00000493632,;INPP5D,non_coding_transcript_exon_variant,,ENST00000480983,;INPP5D,downstream_gene_variant,,ENST00000493078,;INPP5D,upstream_gene_variant,,ENST00000465281,;	1706	141	103	SUCCESS
COL6A3	1293	.	GRCh37	2	238287845	238287845	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1478389224	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	166	42	210	0	ENST00000295550.4:c.1931T>C	p.Leu644Ser	p.L644S	ENST00000295550	NM_004369.3	644	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS33412.1	1931	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCAAAAGA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453	.	.	ENSP00000295550	.	6/44	.	.	.	.	.	.	.	.	.	6/44	PASS	ENST00000295550	Transcript	.	.	ENSG00000163359	2213	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	.	.	CO6A3_HUMAN	COL6A3	HGNC	Q8N4Z1_HUMAN,D9ZGF2_HUMAN	.	UPI0000456F39	SNV	COL6A3,missense_variant,p.Leu237Ser,ENST00000392003,;COL6A3,missense_variant,p.Leu438Ser,ENST00000409809,;COL6A3,missense_variant,p.Leu644Ser,ENST00000295550,;COL6A3,missense_variant,p.Leu443Ser,ENST00000347401,;COL6A3,missense_variant,p.Leu438Ser,ENST00000353578,;COL6A3,missense_variant,p.Leu438Ser,ENST00000392004,;COL6A3,intron_variant,,ENST00000472056,;COL6A3,intron_variant,,ENST00000433762,;COL6A3,intron_variant,,ENST00000346358,;	2384	210	209	SUCCESS
DTNB	1838	.	GRCh37	2	25819006	25819006	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	22	131	0	ENST00000406818.3:c.552G>A	p.Gly184=	p.G184=	ENST00000406818	NM_001256303.1	184	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46237.1	552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGGCCCTTC	NONE	.	.	hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,Pfam_domain:PF09069,Gene3D:1.10.238.10,PIRSF_domain:PIRSF038204,Superfamily_domains:SSF47473	.	.	ENSP00000384084	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000406818	Transcript	.	.	ENSG00000138101	3058	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTNB_HUMAN	DTNB	HGNC	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN	.	UPI0000129949	SNV	DTNB,synonymous_variant,p.%3D,ENST00000496972,;DTNB,synonymous_variant,p.%3D,ENST00000407186,;DTNB,synonymous_variant,p.%3D,ENST00000406818,;DTNB,synonymous_variant,p.%3D,ENST00000405222,;DTNB,synonymous_variant,p.%3D,ENST00000404103,;DTNB,synonymous_variant,p.%3D,ENST00000407661,;DTNB,synonymous_variant,p.%3D,ENST00000288642,;DTNB,synonymous_variant,p.%3D,ENST00000407038,;DTNB,synonymous_variant,p.%3D,ENST00000303659,;DTNB,intron_variant,,ENST00000545439,;DTNB,non_coding_transcript_exon_variant,,ENST00000473113,;DTNB,non_coding_transcript_exon_variant,,ENST00000472690,;DTNB,non_coding_transcript_exon_variant,,ENST00000474987,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000493386,;DTNB,intron_variant,,ENST00000398951,;DTNB,intron_variant,,ENST00000356599,;DTNB,intron_variant,,ENST00000493538,;	802	131	133	SUCCESS
EFEMP1	2202	.	GRCh37	2	56098002	56098002	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	44	114	0	ENST00000355426.3:c.1173G>T	p.Gln391His	p.Q391H	ENST00000355426		391	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS1857.1	1173	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGACTGGGG	NONE	.	.	hmmpanther:PTHR24048:SF68,hmmpanther:PTHR24048	.	.	ENSP00000378058	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000394555	Transcript	.	.	ENSG00000115380	3218	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.219)	.	tolerated(0.54)	.	FBLN3_HUMAN	EFEMP1	HGNC	Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN	.	UPI0000000C12	SNV	EFEMP1,missense_variant,p.Gln391His,ENST00000355426,;EFEMP1,missense_variant,p.Gln391His,ENST00000394554,;EFEMP1,missense_variant,p.Gln253His,ENST00000424836,;EFEMP1,missense_variant,p.Gln391His,ENST00000394555,;	1609	114	145	SUCCESS
KIDINS220	57498	.	GRCh37	2	8919137	8919137	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs772740508	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	63	0	ENST00000256707.3:c.2503C>A	p.Arg835Ser	p.R835S	ENST00000256707	NM_020738.2	835	Cgc/Agc	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS42650.1	2503	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCGCATGT	NONE	.	.	hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5,Pfam_domain:PF07693	.	.	ENSP00000256707	.	19/30	.	.	.	.	.	.	.	.	rs772740508,COSM1483342	19/30	PASS	ENST00000256707	Transcript	.	.	ENSG00000134313	29508	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	.	deleterious(0.01)	0,1	KDIS_HUMAN	KIDINS220	HGNC	F8WAY8_HUMAN	.	UPI0000208E08	SNV	KIDINS220,missense_variant,p.Arg835Ser,ENST00000427284,;KIDINS220,missense_variant,p.Arg836Ser,ENST00000489024,;KIDINS220,missense_variant,p.Arg793Ser,ENST00000418530,;KIDINS220,missense_variant,p.Arg835Ser,ENST00000256707,;KIDINS220,missense_variant,p.Arg835Ser,ENST00000473731,;KIDINS220,missense_variant,p.Arg582Ser,ENST00000496383,;KIDINS220,missense_variant,p.Arg836Ser,ENST00000319688,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;	2685	63	78	SUCCESS
CCDC54	84692	.	GRCh37	3	107097090	107097090	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	121	311	0	ENST00000261058.1:c.656C>A	p.Thr219Asn	p.T219N	ENST00000261058	NM_032600.2	219	aCt/aAt	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS2949.1	656	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAACTCTGA	BUFFER|p.M217I|c.651G>A|3	.	.	.	.	.	ENSP00000261058	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000261058	Transcript	.	.	ENSG00000138483	30703	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.039)	.	tolerated(0.05)	.	CCD54_HUMAN	CCDC54	HGNC	.	.	UPI000006EB42	SNV	CCDC54,missense_variant,p.Thr219Asn,ENST00000261058,;RP11-446H18.5,intron_variant,,ENST00000599431,;RP11-446H18.5,intron_variant,,ENST00000593837,;RP11-446H18.5,downstream_gene_variant,,ENST00000595232,;	903	311	237	SUCCESS
HTR3C	170572	.	GRCh37	3	183776324	183776324	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	35	180	0	ENST00000318351.1:c.669C>A	p.Ala223=	p.A223=	ENST00000318351	NM_130770.2	223	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS3250.1	669	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCCACCCC	NONE	.	.	hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	.	.	ENSP00000322617	.	6/9	.	.	.	.	.	.	.	.	.	6/9	PASS	ENST00000318351	Transcript	.	.	ENSG00000178084	24003	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT3C_HUMAN	HTR3C	HGNC	.	.	UPI00001402D6	SNV	HTR3C,synonymous_variant,p.%3D,ENST00000318351,;	703	180	133	SUCCESS
ENPP6	133121	.	GRCh37	4	185033941	185033941	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs762758635	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	75	0	ENST00000296741.2:c.877G>T	p.Val293Leu	p.V293L	ENST00000296741	NM_153343.3	293	Gtg/Ttg	0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS3834.1	877	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACTGTGC	NONE	.	.	hmmpanther:PTHR10151:SF66,hmmpanther:PTHR10151,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	.	.	ENSP00000296741	.	6/8	.	.	.	.	.	.	.	.	rs762758635	6/8	PASS	ENST00000296741	Transcript	.	.	ENSG00000164303	23409	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.822)	.	tolerated(0.08)	.	ENPP6_HUMAN	ENPP6	HGNC	D6R9P1_HUMAN	.	UPI0000073C89	SNV	ENPP6,missense_variant,p.Val293Leu,ENST00000296741,;ENPP6,downstream_gene_variant,,ENST00000512353,;ENPP6,non_coding_transcript_exon_variant,,ENST00000510054,;	1019	75	66	SUCCESS
WDR19	57728	.	GRCh37	4	39201126	39201126	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	11	87	0	ENST00000399820.3:c.435A>G	p.Gly145=	p.G145=	ENST00000399820	NM_025132.3	145	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS47042.1	435	RADIA|MUTECT|MUSE|VARSCANS	.	TGTGGATGTTG	NONE	.	.	Superfamily_domains:0047732,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0,PROSITE_profiles:PS50294	.	.	ENSP00000382717	.	6/37	.	.	.	.	.	.	.	.	.	6/37	PASS	ENST00000399820	Transcript	1	.	ENSG00000157796	18340	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR19_HUMAN	WDR19	HGNC	D6RE75_HUMAN,B4DGR6_HUMAN	.	UPI000004CC24	SNV	WDR19,synonymous_variant,p.%3D,ENST00000506503,;WDR19,synonymous_variant,p.%3D,ENST00000399820,;WDR19,synonymous_variant,p.%3D,ENST00000509560,;WDR19,5_prime_UTR_variant,,ENST00000288634,;WDR19,5_prime_UTR_variant,,ENST00000512112,;WDR19,intron_variant,,ENST00000511729,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,3_prime_UTR_variant,,ENST00000505055,;WDR19,non_coding_transcript_exon_variant,,ENST00000512448,;WDR19,intron_variant,,ENST00000503697,;WDR19,downstream_gene_variant,,ENST00000502389,;	589	87	86	SUCCESS
N4BP2	55728	.	GRCh37	4	40123848	40123848	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	77	307	0	ENST00000261435.6:c.4117A>G	p.Ile1373Val	p.I1373V	ENST00000261435	NM_018177.4	1373	Ata/Gta	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS3457.1	4117	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCATAGAC	NONE	.	.	hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	.	.	ENSP00000261435	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious(0.02)	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,missense_variant,p.Ile1020Val,ENST00000513269,;N4BP2,missense_variant,p.Ile1373Val,ENST00000261435,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	4533	307	344	SUCCESS
GRXCR1	389207	.	GRCh37	4	42965143	42965143	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	138	0	ENST00000399770.2:c.619T>A	p.Tyr207Asn	p.Y207N	ENST00000399770	NM_001080476.2	207	Tac/Aac	0	.	.	.	.	.	A	Y/N	protein_coding	YES	CCDS43225.1	619	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATTACCTT	NONE	.	.	PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168,Pfam_domain:PF00462,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	.	.	ENSP00000382670	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000399770	Transcript	1	.	ENSG00000215203	31673	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	GRCR1_HUMAN	GRXCR1	HGNC	.	.	UPI00004191A5	SNV	GRXCR1,missense_variant,p.Tyr207Asn,ENST00000399770,;	619	138	115	SUCCESS
TADA2B	93624	.	GRCh37	4	7045509	7045509	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1271238815	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	76	0	ENST00000310074.7:c.203G>A	p.Gly68Asp	p.G68D	ENST00000310074	NM_152293.2	68	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS47007.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGGGCGGCT	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR12374,Gene3D:1.10.10.60,Pfam_domain:PF00249,SMART_domains:SM00717,PIRSF_domain:PIRSF025024,Superfamily_domains:SSF46689	.	.	ENSP00000308022	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000310074	Transcript	.	.	ENSG00000173011	30781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.54)	.	TAD2B_HUMAN	TADA2B	HGNC	D6RJ05_HUMAN,D6RC20_HUMAN	.	UPI00001996F4	SNV	TADA2B,missense_variant,p.Gly68Asp,ENST00000310074,;TADA2B,intron_variant,,ENST00000506692,;TADA2B,intron_variant,,ENST00000512388,;CCDC96,upstream_gene_variant,,ENST00000310085,;RP11-367J11.2,intron_variant,,ENST00000500031,;	392	76	90	SUCCESS
BRD8	10902	.	GRCh37	5	137485368	137485368	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	63	177	0	ENST00000254900.5:c.3239T>C	p.Leu1080Ser	p.L1080S	ENST00000254900	NM_139199.1	1080	tTg/tCg	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS4198.1	3239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCAAGGGA	NONE	.	.	.	.	.	ENSP00000254900	.	23/27	.	.	.	.	.	.	.	.	.	23/27	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.045)	.	tolerated(0.06)	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,missense_variant,p.Leu1080Ser,ENST00000254900,;BRD8,missense_variant,p.Leu186Ser,ENST00000427976,;	3611	177	190	SUCCESS
PCDHGB1	56104	.	GRCh37	5	140731163	140731163	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs773771390	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	54	95	0	ENST00000523390.1:c.1336C>A	p.Pro446Thr	p.P446T	ENST00000523390	NM_018922.2	446	Cct/Act	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS54923.1	1336	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGCACCTGTT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF106,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205,Prints_domain:PR00205	.	.	ENSP00000429273	.	1/4	.	.	.	.	.	.	.	.	rs773771390	1/4	PASS	ENST00000523390	Transcript	.	.	ENSG00000254221	8708	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious(0)	.	PCDGD_HUMAN	PCDHGB1	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI0000073588	SNV	PCDHGB1,missense_variant,p.Pro446Thr,ENST00000523390,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA4,upstream_gene_variant,,ENST00000571252,;	1336	95	122	SUCCESS
PCDHGA7	56108	.	GRCh37	5	140763436	140763436	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	65	147	0	ENST00000518325.1:c.970G>T	p.Gly324Cys	p.G324C	ENST00000518325	NM_018920.2	324	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS54927.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATGGTCCT	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,PROSITE_profiles:PS50268	.	.	ENSP00000430024	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000518325	Transcript	.	.	ENSG00000253537	8705	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious_low_confidence(0)	.	PCDG7_HUMAN	PCDHGA7	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000007146F	SNV	PCDHGA7,missense_variant,p.Gly324Cys,ENST00000518325,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGB4,upstream_gene_variant,,ENST00000519479,;	970	147	180	SUCCESS
SLIT3	6586	.	GRCh37	5	168727673	168727673	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	48	0	ENST00000519560.1:c.41C>G	p.Ala14Gly	p.A14G	ENST00000519560	NM_003062.3	14	gCc/gGc	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS4369.1	41	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGCGCGC	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000430333	.	1/36	.	.	.	.	.	.	.	.	.	1/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.4)	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,missense_variant,p.Ala14Gly,ENST00000332966,;SLIT3,missense_variant,p.Ala14Gly,ENST00000519560,;SLIT3,missense_variant,p.Ala14Gly,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521130,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;	461	48	66	SUCCESS
DOCK2	1794	.	GRCh37	5	169267834	169267834	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	82	0	ENST00000256935.8:c.2777T>C	p.Met926Thr	p.M926T	ENST00000256935	NM_004946.2	926	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS4371.1	2777	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCATGGGCC	NONE	.	.	hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371	.	.	ENSP00000256935	.	27/52	.	.	.	.	.	.	.	.	.	27/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.623)	.	deleterious(0.03)	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,missense_variant,p.Met926Thr,ENST00000256935,;DOCK2,missense_variant,p.Met130Thr,ENST00000519628,;DOCK2,missense_variant,p.Met418Thr,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520181,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,missense_variant,p.Met926Thr,ENST00000524185,;	2857	82	88	SUCCESS
FAM153B	202134	.	GRCh37	5	175530270	175530270	+	synonymous_variant	Silent	SNP	C	C	T	rs367572504	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1160	284	1146	0	ENST00000253490.4:c.705C>T	p.Asn235=	p.N235=	ENST00000253490		235	aaC/aaT	0	T:0.0002	T:0.0008	.	T:0	.	T	N	protein_coding	YES	CCDS43401.2	474	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAACGGCGA	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000427684	T:0	12/20	.	.	.	.	.	.	.	.	rs367572504,rs761007358,COSM3373801	12/20	PASS	ENST00000515817	Transcript	.	T:0.0002	ENSG00000182230	27323	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,0,1	.	.	.	T:0	.	0,0,1	.	FAM153B	HGNC	H0YL08_HUMAN,D6RF84_HUMAN,D6RA46_HUMAN	.	UPI00001D7EF3	SNV	FAM153B,synonymous_variant,p.%3D,ENST00000253490,;FAM153B,synonymous_variant,p.%3D,ENST00000510151,;FAM153B,synonymous_variant,p.%3D,ENST00000515817,;FAM153B,intron_variant,,ENST00000512862,;FAM153B,downstream_gene_variant,,ENST00000503724,;FAM153B,non_coding_transcript_exon_variant,,ENST00000393522,;FAM153B,synonymous_variant,p.%3D,ENST00000508296,;	758	1147	1445	SUCCESS
CDH18	1016	.	GRCh37	5	19571838	19571838	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	64	185	0	ENST00000274170.4:c.1103C>G	p.Thr368Ser	p.T368S	ENST00000274170		368	aCt/aGt	0	.	.	.	.	.	C	T/S	protein_coding	YES	CCDS3889.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATAGTAGCA	NONE	.	.	SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF106,PROSITE_profiles:PS50268	.	.	ENSP00000425093	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.489)	.	deleterious(0.04)	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,missense_variant,p.Thr314Ser,ENST00000515257,;CDH18,missense_variant,p.Thr368Ser,ENST00000382275,;CDH18,missense_variant,p.Thr368Ser,ENST00000274170,;CDH18,missense_variant,p.Thr368Ser,ENST00000506372,;CDH18,missense_variant,p.Thr368Ser,ENST00000507958,;CDH18,missense_variant,p.Thr368Ser,ENST00000511273,;CDH18,missense_variant,p.Thr368Ser,ENST00000502796,;	2094	185	224	SUCCESS
PRDM9	56979	.	GRCh37	5	23510134	23510134	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	209	86	251	1	ENST00000296682.3:c.299A>G	p.Gln100Arg	p.Q100R	ENST00000296682	NM_020227.2	100	cAa/cGa	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS43307.1	299	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCAAGGTA	NONE	.	.	hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21	.	.	ENSP00000296682	.	4/11	.	.	.	.	.	.	.	.	.	4/11	PASS	ENST00000296682	Transcript	.	.	ENSG00000164256	13994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.08)	.	PRDM9_HUMAN	PRDM9	HGNC	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN	.	UPI00006C9E90	SNV	PRDM9,missense_variant,p.Gln100Arg,ENST00000502755,;PRDM9,missense_variant,p.Gln100Arg,ENST00000296682,;	481	252	295	SUCCESS
CWC27	10283	.	GRCh37	5	64064874	64064874	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	14	45	0	ENST00000381070.3:c.-100A>T		p.*34*	ENST00000381070	NM_005869.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3982.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCACTGGA	NONE	.	.	.	.	.	ENSP00000370460	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,5_prime_UTR_variant,,ENST00000381070,;CWC27,5_prime_UTR_variant,,ENST00000508024,;SREK1IP1,upstream_gene_variant,,ENST00000513458,;CWC27,upstream_gene_variant,,ENST00000485990,;SREK1IP1,upstream_gene_variant,,ENST00000510616,;SREK1IP1,upstream_gene_variant,,ENST00000506252,;SREK1IP1,upstream_gene_variant,,ENST00000495198,;	118	45	40	SUCCESS
TAF9	6880	.	GRCh37	5	68651607	68651607	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	82	194	0	ENST00000380822.4:c.195A>G	p.Leu65=	p.L65=	ENST00000380822	NM_016283.4	65	ttA/ttG	0	.	.	.	.	.	C	L	protein_coding	.	CCDS4001.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTAACTC	NONE	.	.	HAMAP:MF_00039,hmmpanther:PTHR12595,hmmpanther:PTHR12595:SF0,Pfam_domain:PF13238,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000370201	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000380822	Transcript	.	.	ENSG00000085231	11542	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAD6_HUMAN	TAF9	HGNC	.	.	UPI0000037723	SNV	TAF9,synonymous_variant,p.%3D,ENST00000380822,;TAF9,synonymous_variant,p.%3D,ENST00000380818,;TAF9,synonymous_variant,p.%3D,ENST00000512561,;TAF9,intron_variant,,ENST00000502819,;	247	194	208	SUCCESS
TRDN	10345	.	GRCh37	6	123696761	123696761	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	19	100	0	ENST00000334268.4:c.1262A>T	p.Gln421Leu	p.Q421L	ENST00000334268		421	cAa/cTa	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS55053.1	1262	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTTGTTTG	NONE	.	.	hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0	.	.	ENSP00000381240	.	19/41	.	.	.	.	.	.	.	.	.	19/41	PASS	ENST00000398178	Transcript	.	.	ENSG00000186439	12261	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated_low_confidence(0.09)	.	TRDN_HUMAN	TRDN	HGNC	.	.	UPI0000D820CC	SNV	TRDN,missense_variant,p.Gln421Leu,ENST00000398178,;TRDN,missense_variant,p.Gln421Leu,ENST00000334268,;	1284	100	95	SUCCESS
PTPRK	5796	.	GRCh37	6	128388829	128388829	+	synonymous_variant	Silent	SNP	C	C	T	rs150985952	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	17	92	0	ENST00000368215.3:c.1992G>A	p.Gly664=	p.G664=	ENST00000368215		664	ggG/ggA	0	T:0	.	.	.	.	T	G	protein_coding	YES	CCDS47473.1	1992	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCCCACT	NONE	byCluster	.	hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134	.	T:0.0001	ENSP00000357196	.	12/31	.	.	.	.	.	.	.	.	rs150985952	12/31	PASS	ENST00000368213	Transcript	.	.	ENSG00000152894	9674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPRK_HUMAN	PTPRK	HGNC	.	.	UPI0001747A04	SNV	PTPRK,synonymous_variant,p.%3D,ENST00000532331,;PTPRK,synonymous_variant,p.%3D,ENST00000368226,;PTPRK,synonymous_variant,p.%3D,ENST00000368215,;PTPRK,synonymous_variant,p.%3D,ENST00000368207,;PTPRK,synonymous_variant,p.%3D,ENST00000368210,;PTPRK,synonymous_variant,p.%3D,ENST00000368227,;PTPRK,synonymous_variant,p.%3D,ENST00000368213,;PTPRK,upstream_gene_variant,,ENST00000415046,;RP11-103C16.2,intron_variant,,ENST00000417390,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,upstream_gene_variant,,ENST00000434424,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	2217	92	71	SUCCESS
TMEM200A	114801	.	GRCh37	6	130762934	130762934	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs577958873	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	94	1	ENST00000296978.3:c.1367A>C	p.Asn456Thr	p.N456T	ENST00000296978	NM_001258277.1	456	aAt/aCt	0	.	G:0	.	G:0	.	C	N/T	protein_coding	YES	CCDS5140.1	1367	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TACCAATAAGG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0	G:0	.	ENSP00000376224	G:0	2/2	.	.	.	.	.	.	.	.	rs577958873	2/2	PASS	ENST00000392429	Transcript	.	G:0.0004	ENSG00000164484	21075	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.086)	G:0.002	tolerated(0.05)	.	T200A_HUMAN	TMEM200A	HGNC	B4DG12_HUMAN,A8K2A1_HUMAN	.	UPI000000DA85	SNV	TMEM200A,missense_variant,p.Asn456Thr,ENST00000392429,;TMEM200A,missense_variant,p.Asn456Thr,ENST00000545622,;TMEM200A,missense_variant,p.Asn456Thr,ENST00000296978,;	3745	95	91	SUCCESS
FNDC1	84624	.	GRCh37	6	159654122	159654122	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	66	0	ENST00000297267.9:c.2578A>G	p.Arg860Gly	p.R860G	ENST00000297267	NM_032532.2	860	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS47512.1	2578	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCAGGGTT	NONE	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.04)	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,missense_variant,p.Arg797Gly,ENST00000340366,;FNDC1,missense_variant,p.Arg860Gly,ENST00000297267,;FNDC1,missense_variant,p.Arg756Gly,ENST00000329629,;	2778	66	56	SUCCESS
SYNGAP1	8831	.	GRCh37	6	33414444	33414444	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	24	159	0	ENST00000418600.2:c.3675C>A	p.Ser1225=	p.S1225=	ENST00000418600	NM_006772.2	1225	tcC/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS34434.2	3675	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCAGGA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,Pfam_domain:PF12004	.	.	ENSP00000403636	.	17/19	.	.	.	.	.	.	.	.	.	17/19	PASS	ENST00000418600	Transcript	.	.	ENSG00000197283	11497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYGP1_HUMAN	SYNGAP1	HGNC	.	.	UPI0000470C44	SNV	SYNGAP1,synonymous_variant,p.%3D,ENST00000449372,;SYNGAP1,synonymous_variant,p.%3D,ENST00000428982,;SYNGAP1,synonymous_variant,p.%3D,ENST00000418600,;SYNGAP1,synonymous_variant,p.%3D,ENST00000293748,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000486399,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000496374,;SYNGAP1,upstream_gene_variant,,ENST00000470232,;	3776	159	112	SUCCESS
TTBK1	84630	.	GRCh37	6	43226800	43226800	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	26	174	0	ENST00000259750.4:c.1041T>A	p.Pro347=	p.P347=	ENST00000259750	NM_032538.1	347	ccT/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS34455.1	1041	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGGGGA	NONE	.	.	hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909	.	.	ENSP00000259750	.	11/15	.	.	.	.	.	.	.	.	.	11/15	PASS	ENST00000259750	Transcript	.	.	ENSG00000146216	19140	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTBK1_HUMAN	TTBK1	HGNC	.	.	UPI000041512B	SNV	TTBK1,synonymous_variant,p.%3D,ENST00000304139,;TTBK1,synonymous_variant,p.%3D,ENST00000259750,;	1124	174	114	SUCCESS
EYS	346007	.	GRCh37	6	66005906	66005906	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1001099315	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	118	0	ENST00000370616.2:c.1873C>T	p.His625Tyr	p.H625Y	ENST00000370616		625	Cac/Tac	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS47445.1	1873	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGCGAAA	NONE	.	.	hmmpanther:PTHR24048:SF65,hmmpanther:PTHR24048	.	.	ENSP00000424243	.	12/43	.	.	.	.	.	.	.	.	.	12/43	PASS	ENST00000503581	Transcript	.	.	ENSG00000188107	21555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	deleterious(0.03)	.	EYS_HUMAN	EYS	HGNC	.	.	UPI000188F466	SNV	EYS,missense_variant,p.His625Tyr,ENST00000370616,;EYS,missense_variant,p.His625Tyr,ENST00000370621,;EYS,missense_variant,p.His625Tyr,ENST00000503581,;EYS,non_coding_transcript_exon_variant,,ENST00000447127,;EYS,non_coding_transcript_exon_variant,,ENST00000370615,;	2411	118	76	SUCCESS
BAI3	0	.	GRCh37	6	69349286	69349286	+	missense_variant	Missense_Mutation	SNP	G	G	C	.	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	51	0	ENST00000370598.1:c.719G>C	p.Cys240Ser	p.C240S	ENST00000370598	NM_001704.2	240	tGc/tCc	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS4968.1	719	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTGCAATC	BUFFER|p.T237T|c.711C>T|3	.	.	.	.	.	ENSP00000359630	.	3/32	.	.	.	.	.	.	.	.	COSM743318	3/32	PASS	ENST00000370598	Transcript	.	.	ENSG00000135298	945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.879)	.	tolerated(0.1)	1	BAI3_HUMAN	BAI3	HGNC	S4R3D0_HUMAN,B7Z1K0_HUMAN	.	UPI00001AE6A9	SNV	BAI3,missense_variant,p.Cys240Ser,ENST00000370598,;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;	1540	51	24	SUCCESS
LCA5	167691	.	GRCh37	6	80228679	80228679	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	49	0	ENST00000369846.4:c.-68A>G		p.*23*	ENST00000369846	NM_001122769.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4990.1	.	MUTECT|MUSE	.	GACAATACTGA	NONE	.	.	.	.	.	ENSP00000376686	.	3/9	.	.	.	.	.	.	.	.	.	3/9	PASS	ENST00000392959	Transcript	.	.	ENSG00000135338	31923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCA5_HUMAN	LCA5	HGNC	A7X9N5_HUMAN	.	UPI000007144D	SNV	LCA5,5_prime_UTR_variant,,ENST00000369846,;LCA5,5_prime_UTR_variant,,ENST00000467898,;LCA5,5_prime_UTR_variant,,ENST00000392959,;	545	49	35	SUCCESS
MDN1	23195	.	GRCh37	6	90408665	90408665	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	17	69	0	ENST00000369393.3:c.9087A>G	p.Pro3029=	p.P3029=	ENST00000369393		3029	ccA/ccG	0	.	.	.	.	.	C	P	protein_coding	YES	CCDS5024.1	9087	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTCTGGATT	NONE	.	.	hmmpanther:PTHR22908:SF58,hmmpanther:PTHR22908,PIRSF_domain:PIRSF010340	.	.	ENSP00000358400	.	59/102	.	.	.	.	.	.	.	.	.	59/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,synonymous_variant,p.%3D,ENST00000369393,;MDN1,synonymous_variant,p.%3D,ENST00000428876,;	9203	69	65	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117375412	117375412	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	27	147	0	ENST00000160373.3:c.3599T>C	p.Leu1200Ser	p.L1200S	ENST00000160373	NM_033427.2	1200	tTa/tCa	0	.	.	.	.	.	G	L/S	protein_coding	YES	CCDS5774.1	3599	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTAAATTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	15/23	.	.	.	.	.	.	.	.	.	15/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Leu185Ser,ENST00000435233,;CTTNBP2,missense_variant,p.Leu688Ser,ENST00000446636,;CTTNBP2,missense_variant,p.Leu1200Ser,ENST00000160373,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	3691	147	181	SUCCESS
MGAM	8972	.	GRCh37	7	141795408	141795408	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	89	0	ENST00000549489.2:c.4814C>A	p.Ser1605Tyr	p.S1605Y	ENST00000549489	NM_004668.2	1605	tCc/tAc	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS47727.1	4814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCCAGAA	CODON|p.S2502F|c.7505C>T|3,CODON|p.S1605F|c.4814C>T|3,CODON|p.S1605F|c.4814C>T|3	.	.	Superfamily_domains:SSF51445,Pfam_domain:PF01055	.	.	ENSP00000447378	.	41/48	.	.	.	.	.	.	.	.	COSM3634785,COSM3634784,COSM3634783	41/48	PASS	ENST00000549489	Transcript	.	.	ENSG00000257335	7043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.847)	.	deleterious(0)	1,1,1	MGA_HUMAN	MGAM	HGNC	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	.	UPI000183CB7B	SNV	MGAM,missense_variant,p.Ser2501Tyr,ENST00000475668,;MGAM,missense_variant,p.Ser1605Tyr,ENST00000549489,;MGAM,non_coding_transcript_exon_variant,,ENST00000485078,;	4909	89	87	SUCCESS
CUL1	8454	.	GRCh37	7	148484107	148484107	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	45	0	ENST00000325222.4:c.1374C>T	p.Asp458=	p.D458=	ENST00000325222	NM_003592.2	458	gaC/gaT	0	.	.	.	.	.	T	D	protein_coding	YES	CCDS34772.1	1374	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGACAAAGA	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Gene3D:1.20.1310.10,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000326804	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000325222	Transcript	.	.	ENSG00000055130	2551	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL1_HUMAN	CUL1	HGNC	Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN	.	UPI00001286E6	SNV	CUL1,synonymous_variant,p.%3D,ENST00000602748,;CUL1,synonymous_variant,p.%3D,ENST00000325222,;CUL1,synonymous_variant,p.%3D,ENST00000409469,;	1653	45	51	SUCCESS
CUL1	8454	.	GRCh37	7	148484108	148484108	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	46	0	ENST00000325222.4:c.1375A>G	p.Lys459Glu	p.K459E	ENST00000325222	NM_003592.2	459	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS34772.1	1375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACAAAGAC	NONE	.	.	PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Gene3D:1.20.1310.10,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	.	.	ENSP00000326804	.	13/22	.	.	.	.	.	.	.	.	.	13/22	PASS	ENST00000325222	Transcript	.	.	ENSG00000055130	2551	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.914)	.	deleterious(0)	.	CUL1_HUMAN	CUL1	HGNC	Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN	.	UPI00001286E6	SNV	CUL1,missense_variant,p.Lys459Glu,ENST00000602748,;CUL1,missense_variant,p.Lys459Glu,ENST00000325222,;CUL1,missense_variant,p.Lys459Glu,ENST00000409469,;	1654	46	51	SUCCESS
GIMAP6	474344	.	GRCh37	7	150325099	150325099	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	67	0	ENST00000328902.5:c.587A>G	p.His196Arg	p.H196R	ENST00000328902	NM_024711.5	196	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS34778.1	587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAATGGCGC	NONE	.	.	PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300	.	.	ENSP00000330374	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328902	Transcript	.	.	ENSG00000133561	21918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	GIMA6_HUMAN	GIMAP6	HGNC	.	.	UPI00001AE78F	SNV	GIMAP6,missense_variant,p.His196Arg,ENST00000328902,;GIMAP6,3_prime_UTR_variant,,ENST00000493969,;	804	67	80	SUCCESS
SOSTDC1	25928	.	GRCh37	7	16505374	16505374	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	13	0	ENST00000307068.4:c.-81G>A		p.*27*	ENST00000307068	NM_015464.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5360.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCCTCAAG	NONE	.	.	.	.	.	ENSP00000304930	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000307068	Transcript	.	.	ENSG00000171243	21748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOSD1_HUMAN	SOSTDC1	HGNC	A4D125_HUMAN	.	UPI000004BA5E	SNV	SOSTDC1,5_prime_UTR_variant,,ENST00000396652,;SOSTDC1,5_prime_UTR_variant,,ENST00000307068,;	101	13	23	SUCCESS
PDE1C	5137	.	GRCh37	7	31904592	31904592	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs751874343	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	44	98	0	ENST00000321453.7:c.714G>T	p.Gln238His	p.Q238H	ENST00000321453	NM_001191059.1	238	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS55100.1	894	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTCTGTGT	BUFFER|p.D235N|c.703G>A|3,BUFFER|p.D235N|c.703G>A|3	.	.	hmmpanther:PTHR11347:SF32,hmmpanther:PTHR11347,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604	.	.	ENSP00000379496	.	8/19	.	.	.	.	.	.	.	.	rs751874343	8/19	PASS	ENST00000396193	Transcript	.	.	ENSG00000154678	8776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	.	PDE1C	HGNC	.	.	UPI000045753D	SNV	PDE1C,missense_variant,p.Gln238His,ENST00000396184,;PDE1C,missense_variant,p.Gln238His,ENST00000396191,;PDE1C,missense_variant,p.Gln298His,ENST00000396193,;PDE1C,missense_variant,p.Gln238His,ENST00000321453,;PDE1C,missense_variant,p.Gln238His,ENST00000396182,;PDE1C,downstream_gene_variant,,ENST00000482681,;	1488	98	161	SUCCESS
BAZ1B	9031	.	GRCh37	7	72936276	72936276	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	28	75	0	ENST00000339594.4:c.-13C>A		p.*5*	ENST00000339594	NM_032408.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGTGGG	NONE	.	.	.	.	.	ENSP00000342434	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000339594	Transcript	.	.	ENSG00000009954	961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAZ1B_HUMAN	BAZ1B	HGNC	.	.	UPI0000126731	SNV	BAZ1B,5_prime_UTR_variant,,ENST00000404251,;BAZ1B,5_prime_UTR_variant,,ENST00000339594,;	327	75	73	SUCCESS
ZNF3	7551	.	GRCh37	7	99674959	99674959	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs372465031	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	43	106	0	ENST00000299667.4:c.22G>A	p.Val8Ile	p.V8I	ENST00000299667		8	Gta/Ata	0	G:0	.	.	.	.	T	V/I	protein_coding	YES	CCDS43619.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATACGAGAT	NONE	byCluster	.	.	.	G:0.0001	ENSP00000306372	.	2/5	.	.	.	.	.	.	.	.	rs372465031	2/5	PASS	ENST00000303915	Transcript	.	.	ENSG00000166526	13089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.14)	.	ZNF3_HUMAN	ZNF3	HGNC	Q86U76_HUMAN,C9JK31_HUMAN,C9JIW8_HUMAN,C9JE35_HUMAN,C9J5S8_HUMAN	.	UPI000000D9B2	SNV	ZNF3,missense_variant,p.Val8Ile,ENST00000415068,;ZNF3,missense_variant,p.Val8Ile,ENST00000428683,;ZNF3,missense_variant,p.Val8Ile,ENST00000303915,;ZNF3,missense_variant,p.Val8Ile,ENST00000449785,;ZNF3,missense_variant,p.Val8Ile,ENST00000413658,;ZNF3,missense_variant,p.Val8Ile,ENST00000424697,;ZNF3,missense_variant,p.Val8Ile,ENST00000299667,;ZNF3,5_prime_UTR_variant,,ENST00000292393,;ZNF3,intron_variant,,ENST00000441298,;ZNF3,intron_variant,,ENST00000412947,;ZNF3,non_coding_transcript_exon_variant,,ENST00000466121,;ZNF3,non_coding_transcript_exon_variant,,ENST00000460331,;ZNF3,non_coding_transcript_exon_variant,,ENST00000485892,;ZNF3,non_coding_transcript_exon_variant,,ENST00000479192,;ZNF3,intron_variant,,ENST00000487620,;	990	106	130	SUCCESS
LZTS1	11178	.	GRCh37	8	20112702	20112702	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	30	0	ENST00000265801.6:c.-10C>T		p.*4*	ENST00000265801	NM_021020.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGGGGCTG	NONE	.	.	.	.	.	ENSP00000370981	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000381569	Transcript	1	.	ENSG00000061337	13861	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS1_HUMAN	LZTS1	HGNC	.	.	UPI000006DEE8	SNV	LZTS1,5_prime_UTR_variant,,ENST00000381569,;LZTS1,5_prime_UTR_variant,,ENST00000265801,;LZTS1,upstream_gene_variant,,ENST00000522290,;	349	30	26	SUCCESS
RB1CC1	9821	.	GRCh37	8	53596502	53596502	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs766400698	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	41	65	0	ENST00000025008.5:c.143A>G	p.Asn48Ser	p.N48S	ENST00000025008	NM_014781.4	48	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS34892.1	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCATTGACC	NONE	.	.	hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222,Gene3D:3.10.20.90	.	.	ENSP00000025008	.	4/24	.	.	.	.	.	.	.	.	rs766400698	4/24	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.61)	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,missense_variant,p.Asn48Ser,ENST00000025008,;RB1CC1,missense_variant,p.Asn44Ser,ENST00000517963,;RB1CC1,missense_variant,p.Asn48Ser,ENST00000539297,;RB1CC1,missense_variant,p.Asn48Ser,ENST00000435644,;RB1CC1,5_prime_UTR_variant,,ENST00000518710,;RB1CC1,downstream_gene_variant,,ENST00000518468,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,downstream_gene_variant,,ENST00000518211,;	667	65	82	SUCCESS
ASPH	444	.	GRCh37	8	62496560	62496560	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	28	0	ENST00000379454.4:c.1005T>C	p.Asn335=	p.N335=	ENST00000379454	NM_004318.3	335	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS34898.1	1005	MUTECT|MUSE	.	AATTTATTTAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF20	.	.	ENSP00000368767	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,synonymous_variant,p.%3D,ENST00000522349,;ASPH,synonymous_variant,p.%3D,ENST00000379454,;ASPH,synonymous_variant,p.%3D,ENST00000541428,;ASPH,non_coding_transcript_exon_variant,,ENST00000523927,;ASPH,non_coding_transcript_exon_variant,,ENST00000523897,;ASPH,non_coding_transcript_exon_variant,,ENST00000524173,;ASPH,non_coding_transcript_exon_variant,,ENST00000521499,;KRT8P3,downstream_gene_variant,,ENST00000519669,;KRT8P3,downstream_gene_variant,,ENST00000394813,;	1193	28	30	SUCCESS
CCNE2	9134	.	GRCh37	8	95900175	95900175	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	264	97	330	0	ENST00000308108.4:c.580T>C	p.Phe194Leu	p.F194L	ENST00000308108	NM_057749.2	194	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS6264.1	580	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAATAATG	NONE	.	.	hmmpanther:PTHR10177:SF70,hmmpanther:PTHR10177,Gene3D:1.10.472.10,Pfam_domain:PF00134,SMART_domains:SM00385,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954	.	.	ENSP00000429089	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000520509	Transcript	.	.	ENSG00000175305	1590	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CCNE2_HUMAN	CCNE2	HGNC	.	.	UPI00001275CF	SNV	CCNE2,missense_variant,p.Phe194Leu,ENST00000308108,;CCNE2,missense_variant,p.Phe194Leu,ENST00000520509,;CCNE2,missense_variant,p.Phe58Leu,ENST00000524224,;CCNE2,missense_variant,p.Phe194Leu,ENST00000396133,;RP11-347C18.5,downstream_gene_variant,,ENST00000605911,;CCNE2,non_coding_transcript_exon_variant,,ENST00000523476,;CCNE2,3_prime_UTR_variant,,ENST00000521809,;CCNE2,downstream_gene_variant,,ENST00000519889,;RP11-347C18.1,upstream_gene_variant,,ENST00000391360,;	833	330	361	SUCCESS
CNTFR	1271	.	GRCh37	9	34568951	34568951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	35	86	0	ENST00000351266.4:c.29G>T	p.Cys10Phe	p.C10F	ENST00000351266	NM_001842.4	10	tGt/tTt	0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS6558.1	29	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGCACAGCAG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF93	.	.	ENSP00000368265	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000378980	Transcript	.	.	ENSG00000122756	2170	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.14)	.	CNTFR_HUMAN	CNTFR	HGNC	Q5T8H6_HUMAN,B3KXJ2_HUMAN	.	UPI0000000DBD	SNV	CNTFR,missense_variant,p.Cys10Phe,ENST00000351266,;CNTFR,missense_variant,p.Cys10Phe,ENST00000378980,;CNTFR,missense_variant,p.Cys10Phe,ENST00000417345,;CNTFR-AS1,intron_variant,,ENST00000453642,;CNTFR-AS1,intron_variant,,ENST00000436360,;CNTFR-AS1,intron_variant,,ENST00000438244,;CNTFR-AS1,upstream_gene_variant,,ENST00000454187,;	323	86	109	SUCCESS
CA9	768	.	GRCh37	9	35680975	35680975	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374397867	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	6	52	0	ENST00000378357.4:c.1333G>A	p.Gly445Arg	p.G445R	ENST00000378357	NM_001216.2	445	Ggg/Agg	0	C:0	.	.	.	.	A	G/R	protein_coding	YES	CCDS6585.1	1333	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGGGGGT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18	.	C:0.0001	ENSP00000367608	.	11/11	.	.	.	.	.	.	.	.	rs374397867	11/11	PASS	ENST00000378357	Transcript	.	.	ENSG00000107159	1383	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.154)	.	tolerated(0.2)	.	CAH9_HUMAN	CA9	HGNC	.	.	UPI000013E02C	SNV	CA9,missense_variant,p.Gly445Arg,ENST00000378357,;TPM2,downstream_gene_variant,,ENST00000360958,;TPM2,downstream_gene_variant,,ENST00000378300,;TPM2,downstream_gene_variant,,ENST00000378292,;TPM2,downstream_gene_variant,,ENST00000329305,;TPM2,downstream_gene_variant,,ENST00000607559,;CA9,non_coding_transcript_exon_variant,,ENST00000493245,;CA9,non_coding_transcript_exon_variant,,ENST00000485665,;TPM2,downstream_gene_variant,,ENST00000486018,;TPM2,downstream_gene_variant,,ENST00000604975,;TPM2,downstream_gene_variant,,ENST00000471212,;	1437	52	53	SUCCESS
TOMM5	401505	.	GRCh37	9	37588927	37588927	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	27	65	0	ENST00000321301.6:c.124C>G	p.Pro42Ala	p.P42A	ENST00000321301	NM_001001790.2	42	Cca/Gca	0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47968.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGAGCTG	NONE	.	.	.	.	.	ENSP00000438204	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000544379	Transcript	.	.	ENSG00000175768	31369	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM5_HUMAN	TOMM5	HGNC	H0YFG9_HUMAN	.	UPI000021141F	SNV	TOMM5,missense_variant,p.Pro76Ala,ENST00000377773,;TOMM5,missense_variant,p.Ser82Cys,ENST00000401811,;TOMM5,missense_variant,p.Pro42Ala,ENST00000321301,;TOMM5,splice_region_variant,,ENST00000544379,;FBXO10,upstream_gene_variant,,ENST00000541829,;RP11-613M10.8,upstream_gene_variant,,ENST00000544475,;RP11-613M10.8,upstream_gene_variant,,ENST00000541804,;RP11-613M10.8,missense_variant,p.Pro55Ala,ENST00000537239,;TOMM5,splice_region_variant,,ENST00000540941,;RP11-613M10.9,splice_region_variant,,ENST00000540557,;	347	65	90	SUCCESS
DAPK1	1612	.	GRCh37	9	90219980	90219980	+	synonymous_variant	Silent	SNP	C	C	T	rs200958656	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	49	116	0	ENST00000358077.5:c.174C>T	p.Arg58=	p.R58=	ENST00000358077	NM_001288731.1	58	cgC/cgT	0	.	T:0	.	T:0.0014	.	T	R	protein_coding	YES	CCDS43842.1	174	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGCGAGGA	NONE	byCluster|by1000G	.	Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR22964:SF54,hmmpanther:PTHR22964,PROSITE_profiles:PS50011	T:0	.	ENSP00000386135	T:0	3/26	.	.	.	.	.	.	.	.	rs200958656	3/26	PASS	ENST00000408954	Transcript	.	T:0.0002	ENSG00000196730	2674	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	DAPK1_HUMAN	DAPK1	HGNC	.	.	UPI0000210C2F	SNV	DAPK1,synonymous_variant,p.%3D,ENST00000358077,;DAPK1,synonymous_variant,p.%3D,ENST00000491893,;DAPK1,synonymous_variant,p.%3D,ENST00000408954,;DAPK1,synonymous_variant,p.%3D,ENST00000469640,;DAPK1,synonymous_variant,p.%3D,ENST00000472284,;DAPK1,non_coding_transcript_exon_variant,,ENST00000472344,;DAPK1,non_coding_transcript_exon_variant,,ENST00000496522,;DAPK1,synonymous_variant,p.%3D,ENST00000489291,;DAPK1,non_coding_transcript_exon_variant,,ENST00000469067,;	509	116	101	SUCCESS
NOX1	27035	.	GRCh37	X	100125805	100125805	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	65	0	ENST00000372966.3:c.46-2A>T		p.X16_splice	ENST00000372966	NM_001271815.1	16		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14474.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCTAGAGA	NONE	.	.	.	.	.	ENSP00000362057	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372966	Transcript	.	.	ENSG00000007952	7889	.	.	HIGH	1/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOX1_HUMAN	NOX1	HGNC	.	.	UPI00001303C1	SNV	NOX1,splice_acceptor_variant,,ENST00000372960,;NOX1,splice_acceptor_variant,,ENST00000372964,;NOX1,splice_acceptor_variant,,ENST00000217885,;NOX1,splice_acceptor_variant,,ENST00000372966,;	.	65	65	SUCCESS
CUL4B	8450	.	GRCh37	X	119677623	119677623	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	47	135	0	ENST00000404115.3:c.1269A>G	p.Glu423=	p.E423=	ENST00000404115	NM_003588.3	423	gaA/gaG	0	.	.	.	.	.	C	E	protein_coding	YES	CCDS35379.1	1269	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTTCTTC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF66,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788	.	.	ENSP00000384109	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000404115	Transcript	.	.	ENSG00000158290	2555	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUL4B_HUMAN	CUL4B	HGNC	.	.	UPI0000246E48	SNV	CUL4B,synonymous_variant,p.%3D,ENST00000336592,;CUL4B,synonymous_variant,p.%3D,ENST00000371323,;CUL4B,synonymous_variant,p.%3D,ENST00000371322,;CUL4B,synonymous_variant,p.%3D,ENST00000404115,;snoU13,upstream_gene_variant,,ENST00000605987,;	1671	135	144	SUCCESS
FRMPD4	9758	.	GRCh37	X	12516855	12516855	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	81	177	0	ENST00000380682.1:c.98A>T	p.Gln33Leu	p.Q33L	ENST00000380682	NM_014728.3	33	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS35201.1	98	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGGTGC	NONE	.	.	hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3,PROSITE_profiles:PS50020	.	.	ENSP00000370057	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.597)	.	tolerated(0.09)	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,missense_variant,p.Gln33Leu,ENST00000380682,;	604	177	208	SUCCESS
ARHGAP36	158763	.	GRCh37	X	130218250	130218250	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	50	162	1	ENST00000276211.5:c.617T>A	p.Leu206Gln	p.L206Q	ENST00000276211	NM_144967.3	206	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS14628.1	617	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCTGCAGC	NONE	.	.	hmmpanther:PTHR12635:SF5,hmmpanther:PTHR12635	.	.	ENSP00000276211	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000276211	Transcript	.	.	ENSG00000147256	26388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.191)	.	deleterious(0)	.	RHG36_HUMAN	ARHGAP36	HGNC	.	.	UPI0000041347	SNV	ARHGAP36,missense_variant,p.Leu206Gln,ENST00000276211,;ARHGAP36,missense_variant,p.Leu158Gln,ENST00000423277,;ARHGAP36,missense_variant,p.Leu194Gln,ENST00000370922,;ARHGAP36,missense_variant,p.Leu175Gln,ENST00000412432,;ARHGAP36,missense_variant,p.Leu70Gln,ENST00000370921,;	962	163	165	SUCCESS
SLITRK2	84631	.	GRCh37	X	144905172	144905172	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	61	215	0	ENST00000370490.1:c.1229G>T	p.Arg410Met	p.R410M	ENST00000370490		410	aGg/aTg	0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS14680.1	1229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACAGGATTG	NONE	.	.	PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Arg410Met,ENST00000370490,;SLITRK2,missense_variant,p.Arg410Met,ENST00000434188,;SLITRK2,missense_variant,p.Arg410Met,ENST00000428560,;SLITRK2,missense_variant,p.Arg410Met,ENST00000413937,;SLITRK2,missense_variant,p.Arg410Met,ENST00000447897,;SLITRK2,missense_variant,p.Arg410Met,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,;	5484	215	212	SUCCESS
SLITRK2	84631	.	GRCh37	X	144906450	144906450	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	291	135	365	0	ENST00000370490.1:c.2507T>A	p.Leu836Gln	p.L836Q	ENST00000370490		836	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS14680.1	2507	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTGGAAA	NONE	.	.	hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	.	.	ENSP00000359521	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370490	Transcript	.	.	ENSG00000185985	13449	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.994)	.	deleterious(0)	.	SLIK2_HUMAN	SLITRK2	HGNC	B3KTY4_HUMAN	.	UPI000004E64B	SNV	SLITRK2,missense_variant,p.Leu836Gln,ENST00000370490,;SLITRK2,missense_variant,p.Leu836Gln,ENST00000434188,;SLITRK2,missense_variant,p.Leu836Gln,ENST00000428560,;SLITRK2,missense_variant,p.Leu836Gln,ENST00000413937,;SLITRK2,missense_variant,p.Leu836Gln,ENST00000447897,;TMEM257,upstream_gene_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	6762	365	427	SUCCESS
PLXNA3	55558	.	GRCh37	X	153691942	153691942	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	25	122	0	ENST00000369682.3:c.1456C>T	p.Leu486Phe	p.L486F	ENST00000369682	NM_017514.3	486	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS14752.1	1456	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCTCCCG	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Gene3D:2.130.10.10,Superfamily_domains:SSF101912	.	.	ENSP00000358696	.	6/33	.	.	.	.	.	.	.	.	.	6/33	PASS	ENST00000369682	Transcript	.	.	ENSG00000130827	9101	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.398)	.	deleterious(0)	.	PLXA3_HUMAN	PLXNA3	HGNC	.	.	UPI000004E900	SNV	PLXNA3,missense_variant,p.Leu486Phe,ENST00000369682,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000482598,;PLXNA3,upstream_gene_variant,,ENST00000478236,;	1631	123	125	SUCCESS
PDHA1	5160	.	GRCh37	X	19367462	19367462	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	234	95	319	0	ENST00000422285.2:c.90T>G	p.Phe30Leu	p.F30L	ENST00000422285		30	ttT/ttG	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS55380.1	204	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTTGCAAA	NONE	.	.	hmmpanther:PTHR11516:SF28,hmmpanther:PTHR11516	.	.	ENSP00000369134	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000379806	Transcript	.	.	ENSG00000131828	8806	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.062)	.	tolerated(0.26)	.	ODPA_HUMAN	PDHA1	HGNC	Q9UNV7_HUMAN,Q6LCA3_HUMAN,Q5JPU3_HUMAN,Q5JPU1_HUMAN,A5YPB6_HUMAN	.	UPI0000D4E0D1	SNV	PDHA1,missense_variant,p.Phe30Leu,ENST00000355808,;PDHA1,missense_variant,p.Phe30Leu,ENST00000422285,;PDHA1,missense_variant,p.Phe68Leu,ENST00000423505,;PDHA1,missense_variant,p.Phe30Leu,ENST00000540249,;PDHA1,missense_variant,p.Phe30Leu,ENST00000379805,;PDHA1,missense_variant,p.Phe68Leu,ENST00000379806,;PDHA1,missense_variant,p.Phe30Leu,ENST00000545074,;PDHA1,missense_variant,p.Phe58Leu,ENST00000417819,;PDHA1,non_coding_transcript_exon_variant,,ENST00000492364,;PDHA1,upstream_gene_variant,,ENST00000479146,;	349	319	330	SUCCESS
USP27X	389856	.	GRCh37	X	49646154	49646154	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	69	215	0	ENST00000508866.2:c.1244T>C	p.Leu415Ser	p.L415S	ENST00000508866	NM_001145073.1	415	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS65260.1	1244	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATTTACTGT	NONE	.	.	PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF368,Pfam_domain:PF00443,Superfamily_domains:SSF54001	.	.	ENSP00000475071	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000508866	Transcript	.	.	ENSG00000242013	13486	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	UBP27_HUMAN	USP27X	HGNC	.	.	UPI0000EE7A8D	SNV	USP27X,missense_variant,p.Leu415Ser,ENST00000508866,;USP27X-AS1,upstream_gene_variant,,ENST00000437322,;	1685	215	255	SUCCESS
ARR3	407	.	GRCh37	X	69497340	69497340	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	250	109	313	0	ENST00000307959.8:c.570A>T	p.Ser190=	p.S190=	ENST00000307959	NM_004312.2	190	tcA/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS14399.1	570	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCAGCTCA	NONE	.	.	hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF19,Gene3D:1g4mB02,SMART_domains:SM01017,Superfamily_domains:SSF81296	.	.	ENSP00000311538	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000307959	Transcript	.	.	ENSG00000120500	710	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARRC_HUMAN	ARR3	HGNC	D6RCT3_HUMAN	.	UPI0000457850	SNV	ARR3,synonymous_variant,p.%3D,ENST00000374495,;ARR3,synonymous_variant,p.%3D,ENST00000307959,;RAB41,upstream_gene_variant,,ENST00000374473,;RAB41,upstream_gene_variant,,ENST00000276066,;RAB41,upstream_gene_variant,,ENST00000509895,;ARR3,downstream_gene_variant,,ENST00000480877,;	621	314	359	SUCCESS
LRRC37A6P	387646	.	GRCh37	10	27538938	27538938	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	30	0	ENST00000284414.4:n.554A>G		p.*185*	ENST00000284414				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTATTAATA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000574842	Transcript	.	.	ENSG00000262412	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-85G18.6	Clone_based_vega_gene	.	.	.	SNV	RP11-85G18.6,intron_variant,,ENST00000574842,;LRRC37A6P,non_coding_transcript_exon_variant,,ENST00000284414,;LRRC37A6P,downstream_gene_variant,,ENST00000575554,;LRRC37A6P,downstream_gene_variant,,ENST00000574795,;LRRC37A6P,non_coding_transcript_exon_variant,,ENST00000448648,;	.	30	34	SUCCESS
PARD3	56288	.	GRCh37	10	34671515	34671515	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs780725925	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	79	0	ENST00000374789.3:c.1352A>G	p.Tyr451Cys	p.Y451C	ENST00000374789	NM_019619.3	451	tAt/tGt	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS7178.1	1352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATAACCA	NONE	.	.	hmmpanther:PTHR16484:SF10,hmmpanther:PTHR16484,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	.	.	ENSP00000363921	.	9/25	.	.	.	.	.	.	.	.	rs780725925	9/25	PASS	ENST00000374789	Transcript	.	.	ENSG00000148498	16051	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.697)	.	deleterious(0.01)	.	PARD3_HUMAN	PARD3	HGNC	.	.	UPI0000073A9F	SNV	PARD3,missense_variant,p.Tyr407Cys,ENST00000545260,;PARD3,missense_variant,p.Tyr451Cys,ENST00000545693,;PARD3,missense_variant,p.Tyr451Cys,ENST00000374788,;PARD3,missense_variant,p.Tyr181Cys,ENST00000544292,;PARD3,missense_variant,p.Tyr451Cys,ENST00000340077,;PARD3,missense_variant,p.Tyr407Cys,ENST00000374790,;PARD3,missense_variant,p.Tyr451Cys,ENST00000374776,;PARD3,missense_variant,p.Tyr451Cys,ENST00000374773,;PARD3,missense_variant,p.Tyr407Cys,ENST00000374794,;PARD3,missense_variant,p.Tyr451Cys,ENST00000350537,;PARD3,missense_variant,p.Tyr451Cys,ENST00000374789,;PARD3,missense_variant,p.Tyr451Cys,ENST00000346874,;	1678	79	64	SUCCESS
AKR1C3	8644	.	GRCh37	10	5136645	5136645	+	synonymous_variant	Silent	SNP	C	C	T	rs1478371443	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	97	0	ENST00000380554.3:c.9C>T	p.Ser3=	p.S3=	ENST00000380554	NM_003739.5	3	tcC/tcT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS7063.1	9	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCCAAACA	NONE	.	.	hmmpanther:PTHR11732:SF201,hmmpanther:PTHR11732,PIRSF_domain:PIRSF000097	.	.	ENSP00000369927	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000380554	Transcript	.	.	ENSG00000196139	386	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AK1C3_HUMAN	AKR1C3	HGNC	B4DL37_HUMAN	.	UPI0000140951	SNV	AKR1C3,synonymous_variant,p.%3D,ENST00000380554,;AKR1C3,intron_variant,,ENST00000439082,;AKR1C3,intron_variant,,ENST00000602997,;AKR1C3,intron_variant,,ENST00000605149,;U8,upstream_gene_variant,,ENST00000459536,;AKR1C3,intron_variant,,ENST00000605781,;AKR1C3,intron_variant,,ENST00000480822,;AKR1C3,intron_variant,,ENST00000470862,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000480697,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000605322,;AKR1C3,upstream_gene_variant,,ENST00000603312,;	661	97	103	SUCCESS
ARID5B	84159	.	GRCh37	10	63661468	63661468	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	64	0	ENST00000279873.7:c.-1G>C		p.*1*	ENST00000279873	NM_032199.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31208.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGAGATGGA	NONE	.	.	.	.	.	ENSP00000279873	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000279873	Transcript	1	.	ENSG00000150347	17362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI5B_HUMAN	ARID5B	HGNC	.	.	UPI00001606F0	SNV	ARID5B,5_prime_UTR_variant,,ENST00000279873,;	410	64	51	SUCCESS
TBC1D12	23232	.	GRCh37	10	96163102	96163102	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	123	72	190	0	ENST00000225235.4:c.732G>T	p.Glu244Asp	p.E244D	ENST00000225235	NM_015188.1	244	gaG/gaT	0	.	.	.	.	.	T	E/D	protein_coding	YES	CCDS41553.1	732	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGAGGAGGG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000225235	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000225235	Transcript	.	.	ENSG00000108239	29082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	tolerated_low_confidence(0.15)	.	TBC12_HUMAN	TBC1D12	HGNC	B9A6L3_HUMAN	.	UPI00001C1ED6	SNV	TBC1D12,missense_variant,p.Glu244Asp,ENST00000225235,;	842	190	196	SUCCESS
TRPM5	29850	.	GRCh37	11	2434047	2434047	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	39	134	0	ENST00000155858.6:c.2292C>T	p.Pro764=	p.P764=	ENST00000155858	NM_014555.3	764	ccC/ccT	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS31340.1	2292	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGGGGCC	NONE	.	.	hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5	.	.	ENSP00000155858	.	15/24	.	.	.	.	.	.	.	.	.	15/24	PASS	ENST00000155858	Transcript	.	.	ENSG00000070985	14323	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPM5_HUMAN	TRPM5	HGNC	.	.	UPI000003B069	SNV	TRPM5,synonymous_variant,p.%3D,ENST00000533060,;TRPM5,synonymous_variant,p.%3D,ENST00000528453,;TRPM5,synonymous_variant,p.%3D,ENST00000533881,;TRPM5,synonymous_variant,p.%3D,ENST00000452833,;TRPM5,synonymous_variant,p.%3D,ENST00000155858,;AC124057.5,downstream_gene_variant,,ENST00000433035,;	2301	134	126	SUCCESS
MS4A6A	64231	.	GRCh37	11	59949192	59949192	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	56	172	0	ENST00000530839.1:c.9A>G	p.Ser3=	p.S3=	ENST00000530839	NM_152852.2	3	tcA/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS58134.1	93	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTGTGATGT	NONE	.	.	hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF53	.	.	ENSP00000403212	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000412309	Transcript	.	.	ENSG00000110077	13375	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MS4A6A	HGNC	F8W9K1_HUMAN,E9PNG6_HUMAN,E9PMN8_HUMAN,E9PL03_HUMAN	.	UPI0001F77AB4	SNV	MS4A6A,synonymous_variant,p.%3D,ENST00000528851,;MS4A6A,synonymous_variant,p.%3D,ENST00000534596,;MS4A6A,synonymous_variant,p.%3D,ENST00000529054,;MS4A6A,synonymous_variant,p.%3D,ENST00000533023,;MS4A6A,synonymous_variant,p.%3D,ENST00000420732,;MS4A6A,synonymous_variant,p.%3D,ENST00000531531,;MS4A6A,synonymous_variant,p.%3D,ENST00000323961,;MS4A6A,synonymous_variant,p.%3D,ENST00000533409,;MS4A6A,synonymous_variant,p.%3D,ENST00000532169,;MS4A6A,synonymous_variant,p.%3D,ENST00000530839,;MS4A6A,synonymous_variant,p.%3D,ENST00000412309,;MS4A6A,synonymous_variant,p.%3D,ENST00000426738,;MS4A6A,upstream_gene_variant,,ENST00000533989,;MS4A6A,upstream_gene_variant,,ENST00000529906,;MS4A6A,downstream_gene_variant,,ENST00000528925,;MS4A6A,synonymous_variant,p.%3D,ENST00000527254,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000530179,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000526677,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000533660,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000525549,;MS4A6A,upstream_gene_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000526697,;	111	172	161	SUCCESS
FZD10	11211	.	GRCh37	12	130648052	130648052	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770928042	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	9	92	0	ENST00000229030.4:c.565C>T	p.Arg189Cys	p.R189C	ENST00000229030		189	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS9267.1	565	RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCGCGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	rs770928042	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.72)	.	tolerated(0.14)	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,missense_variant,p.Ala156Val,ENST00000539839,;FZD10,missense_variant,p.Arg189Cys,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	1049	92	76	SUCCESS
CHFR	55743	.	GRCh37	12	133435779	133435779	+	synonymous_variant	Silent	SNP	G	G	A	rs115431373	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	82	0	ENST00000432561.2:c.822C>T	p.Val274=	p.V274=	ENST00000432561		274	gtC/gtT	0	A:0.0005	A:0	.	A:0	.	A	V	protein_coding	YES	CCDS53849.1	822	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGACCAA	NONE	byCluster|by1000G	.	hmmpanther:PTHR16079,hmmpanther:PTHR16079:SF2	A:0	A:0.0003	ENSP00000392395	A:0.001	8/18	.	.	.	.	.	.	.	.	rs115431373	8/18	PASS	ENST00000432561	Transcript	.	A:0.0002	ENSG00000072609	20455	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CHFR_HUMAN	CHFR	HGNC	U3KQ08_HUMAN,F5H829_HUMAN,F5H7R8_HUMAN	.	UPI000006FA02	SNV	CHFR,synonymous_variant,p.%3D,ENST00000450056,;CHFR,synonymous_variant,p.%3D,ENST00000432561,;CHFR,synonymous_variant,p.%3D,ENST00000315585,;CHFR,synonymous_variant,p.%3D,ENST00000443047,;CHFR,synonymous_variant,p.%3D,ENST00000266880,;CHFR,upstream_gene_variant,,ENST00000537522,;CHFR,downstream_gene_variant,,ENST00000541817,;CHFR,downstream_gene_variant,,ENST00000540963,;CHFR,non_coding_transcript_exon_variant,,ENST00000541837,;CHFR,upstream_gene_variant,,ENST00000535527,;CHFR,upstream_gene_variant,,ENST00000511001,;CHFR,non_coding_transcript_exon_variant,,ENST00000535897,;	896	83	74	SUCCESS
BAZ2A	11176	.	GRCh37	12	56993613	56993613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	28	86	0	ENST00000551812.1:c.5051A>G	p.Lys1684Arg	p.K1684R	ENST00000551812	NM_013449.3	1684	aAg/aGg	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS44924.1	5051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCTTCCGG	NONE	.	.	PROSITE_profiles:PS50016,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	.	.	ENSP00000446880	.	26/29	.	.	.	.	.	.	.	.	.	26/29	PASS	ENST00000551812	Transcript	.	.	ENSG00000076108	962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.67)	.	tolerated(0.14)	.	BAZ2A_HUMAN	BAZ2A	HGNC	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	.	UPI0000D4FED1	SNV	BAZ2A,missense_variant,p.Lys1654Arg,ENST00000379441,;BAZ2A,missense_variant,p.Lys616Arg,ENST00000549787,;BAZ2A,missense_variant,p.Lys1652Arg,ENST00000179765,;BAZ2A,missense_variant,p.Lys1684Arg,ENST00000551812,;BAZ2A,missense_variant,p.Lys1682Arg,ENST00000549884,;BAZ2A,downstream_gene_variant,,ENST00000547453,;BAZ2A,downstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000551759,;	5245	86	96	SUCCESS
ELK3	2004	.	GRCh37	12	96641039	96641039	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	80	0	ENST00000228741.3:c.529G>T	p.Glu177Ter	p.E177*	ENST00000228741	NM_005230.2	177	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS9060.1	529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTGGAAGAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF172	.	.	ENSP00000228741	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000228741	Transcript	.	.	ENSG00000111145	3325	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELK3_HUMAN	ELK3	HGNC	F8VZQ0_HUMAN,F8VUJ0_HUMAN	.	UPI0000000E09	SNV	ELK3,stop_gained,p.Glu177Ter,ENST00000228741,;ELK3,intron_variant,,ENST00000552142,;ELK3,downstream_gene_variant,,ENST00000547860,;ELK3,stop_gained,p.Glu45Ter,ENST00000549985,;	855	80	83	SUCCESS
ERN2	10595	.	GRCh37	16	23724450	23724450	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	117	0	ENST00000256797.4:c.203T>C	p.Phe68Ser	p.F68S	ENST00000256797	NM_033266.3	68	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS32407.1	203	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCGAACTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954	.	.	ENSP00000256797	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000256797	Transcript	.	.	ENSG00000134398	16942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.33)	.	ERN2_HUMAN	ERN2	HGNC	.	.	UPI000041A8F8	SNV	ERN2,missense_variant,p.Phe20Ser,ENST00000457008,;ERN2,missense_variant,p.Phe68Ser,ENST00000256797,;CTD-2385L22.1,downstream_gene_variant,,ENST00000563611,;ERN2,missense_variant,p.Phe20Ser,ENST00000569903,;ERN2,missense_variant,p.Phe20Ser,ENST00000562562,;	372	117	132	SUCCESS
COG8	84342	.	GRCh37	16	69368984	69368984	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	54	163	0	ENST00000306875.4:c.853A>G	p.Ile285Val	p.I285V	ENST00000306875	NM_032382.4	285	Atc/Gtc	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS10876.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGATATCAA	NONE	.	.	hmmpanther:PTHR21311,hmmpanther:PTHR21311:SF0,Pfam_domain:PF04124,PIRSF_domain:PIRSF015415,Superfamily_domains:SSF74788	.	.	ENSP00000305459	.	3/6	.	.	.	.	.	.	.	.	.	3/6	PASS	ENST00000306875	Transcript	.	.	ENSG00000213380	18623	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.341)	.	tolerated(0.07)	.	COG8_HUMAN	COG8	HGNC	J3QRV3_HUMAN,B4DYU2_HUMAN	.	UPI000013EBA1	SNV	COG8,missense_variant,p.Ile285Val,ENST00000306875,;COG8,missense_variant,p.Ile285Val,ENST00000562081,;COG8,intron_variant,,ENST00000562595,;RP11-343C2.12,upstream_gene_variant,,ENST00000562949,;COG8,downstream_gene_variant,,ENST00000567493,;NIP7,upstream_gene_variant,,ENST00000254941,;NIP7,upstream_gene_variant,,ENST00000254940,;RP11-343C2.9,downstream_gene_variant,,ENST00000563634,;NIP7,upstream_gene_variant,,ENST00000569637,;PDF,upstream_gene_variant,,ENST00000288022,;NIP7,upstream_gene_variant,,ENST00000562131,;RP11-343C2.7,downstream_gene_variant,,ENST00000570293,;NIP7,upstream_gene_variant,,ENST00000563364,;RP11-343C2.7,downstream_gene_variant,,ENST00000564737,;NIP7,upstream_gene_variant,,ENST00000565034,;	968	163	163	SUCCESS
ANKRD11	29123	.	GRCh37	16	89348575	89348575	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	17	58	0	ENST00000301030.4:c.4375A>G	p.Lys1459Glu	p.K1459E	ENST00000301030	NM_001256183.1	1459	Aag/Gag	0	.	.	.	.	.	C	K/E	protein_coding	YES	CCDS32513.1	4375	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTCTCTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24145	.	.	ENSP00000301030	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000301030	Transcript	.	.	ENSG00000167522	21316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.345)	.	.	.	ANR11_HUMAN	ANKRD11	HGNC	.	.	UPI00004569E1	SNV	ANKRD11,missense_variant,p.Lys1459Glu,ENST00000378330,;ANKRD11,missense_variant,p.Lys1459Glu,ENST00000301030,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000378332,;	4836	58	58	SUCCESS
PLEKHM1	9842	.	GRCh37	17	43555419	43555419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	62	108	1	ENST00000430334.3:c.143A>G	p.Asn48Ser	p.N48S	ENST00000430334	NM_014798.2	48	aAc/aGc	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS32671.1	143	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGTTGGCA	NONE	.	.	PROSITE_profiles:PS50826,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5,Superfamily_domains:0052343	.	.	ENSP00000389913	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000430334	Transcript	.	.	ENSG00000225190	29017	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	PKHM1_HUMAN	PLEKHM1	HGNC	K7EII8_HUMAN,J3KRL8_HUMAN	.	UPI00001C1FC4	SNV	PLEKHM1,missense_variant,p.Asn48Ser,ENST00000430334,;PLEKHM1,intron_variant,,ENST00000589780,;PLEKHM1,intron_variant,,ENST00000584420,;PLEKHM1,intron_variant,,ENST00000421073,;PLEKHM1,intron_variant,,ENST00000582119,;PLEKHM1,intron_variant,,ENST00000586562,;PLEKHM1,missense_variant,p.Asn48Ser,ENST00000581448,;PLEKHM1,missense_variant,p.Asn48Ser,ENST00000586084,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000581932,;PLEKHM1,intron_variant,,ENST00000446609,;PLEKHM1,intron_variant,,ENST00000579197,;	277	110	155	SUCCESS
PPP1R9B	84687	.	GRCh37	17	48227118	48227118	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	45	0	ENST00000316878.6:c.755C>T	p.Pro252Leu	p.P252L	ENST00000316878	NM_032595.3	252	cCg/cTg	0	.	.	.	.	.	A	P/L	protein_coding	YES	.	755	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16154:SF24,hmmpanther:PTHR16154	.	.	ENSP00000475417	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000316878	Transcript	.	.	ENSG00000108819	9298	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.079)	.	tolerated(0.32)	.	NEB2_HUMAN	PPP1R9B	HGNC	D3DTX6_HUMAN,Q96B17_HUMAN	.	UPI000066DA68	SNV	PPP1R9B,missense_variant,p.Pro252Leu,ENST00000316878,;AC002401.1,downstream_gene_variant,,ENST00000451776,;PPP1R9B,non_coding_transcript_exon_variant,,ENST00000501501,;PPP1R9B,upstream_gene_variant,,ENST00000513579,;	758	45	59	SUCCESS
POLG2	11232	.	GRCh37	17	62492649	62492649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	104	159	0	ENST00000539111.2:c.438G>T	p.Arg146Ser	p.R146S	ENST00000539111	NM_007215.3	146	agG/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS32706.1	438	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAACCTGAA	NONE	.	.	Superfamily_domains:SSF55681,Gene3D:3.30.930.10,hmmpanther:PTHR10745	.	.	ENSP00000442563	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000539111	Transcript	.	.	ENSG00000256525	9180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.92)	.	deleterious(0.01)	.	DPOG2_HUMAN	POLG2	HGNC	E5KS15_HUMAN,J3KRM2_HUMAN	.	UPI000012974A	SNV	POLG2,missense_variant,p.Arg146Ser,ENST00000539111,;DDX5,downstream_gene_variant,,ENST00000578804,;DDX5,downstream_gene_variant,,ENST00000450599,;DDX5,downstream_gene_variant,,ENST00000225792,;POLG2,upstream_gene_variant,,ENST00000581355,;MIR3064,downstream_gene_variant,,ENST00000581130,;MIR5047,downstream_gene_variant,,ENST00000579212,;POLG2,upstream_gene_variant,,ENST00000578687,;DDX5,downstream_gene_variant,,ENST00000580026,;POLG2,upstream_gene_variant,,ENST00000580893,;DDX5,downstream_gene_variant,,ENST00000581237,;DDX5,downstream_gene_variant,,ENST00000578491,;POLG2,splice_donor_variant,,ENST00000578997,;POLG2,non_coding_transcript_exon_variant,,ENST00000585141,;DDX5,downstream_gene_variant,,ENST00000540698,;DDX5,downstream_gene_variant,,ENST00000578758,;DDX5,downstream_gene_variant,,ENST00000581230,;DDX5,downstream_gene_variant,,ENST00000581693,;AC138744.2,downstream_gene_variant,,ENST00000538774,;	506	159	229	SUCCESS
CEP95	90799	.	GRCh37	17	62522209	62522209	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	30	130	0	ENST00000556440.2:c.1043C>T	p.Ala348Val	p.A348V	ENST00000556440	NM_138363.1	348	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS45763.1	1043	RADIA|MUTECT|MUSE|VARSCANS	.	TACAGCCTCAT	NONE	.	.	hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545	.	.	ENSP00000450461	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000556440	Transcript	.	.	ENSG00000258890	25141	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.002)	.	tolerated(0.33)	.	CEP95_HUMAN	CEP95	HGNC	K7ENV0_HUMAN,B4DMD2_HUMAN	.	UPI000006F4B3	SNV	CEP95,missense_variant,p.Ala348Val,ENST00000556440,;CEP95,missense_variant,p.Ala184Val,ENST00000553412,;CEP95,upstream_gene_variant,,ENST00000583457,;CEP95,downstream_gene_variant,,ENST00000580188,;AC009994.2,downstream_gene_variant,,ENST00000579926,;CEP95,non_coding_transcript_exon_variant,,ENST00000577476,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,upstream_gene_variant,,ENST00000584857,;CEP95,upstream_gene_variant,,ENST00000579637,;CEP95,downstream_gene_variant,,ENST00000579860,;CEP95,upstream_gene_variant,,ENST00000579117,;CEP95,downstream_gene_variant,,ENST00000577960,;CEP95,upstream_gene_variant,,ENST00000579478,;	1553	130	171	SUCCESS
TP53	7157	.	GRCh37	17	7577099	7577099	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121912660	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	105	0	ENST00000269305.4:c.839G>A	p.Arg280Lys	p.R280K	ENST00000269305	NM_001126112.2	280	aGa/aAa	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS11118.1	839	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance,pathogenic	GGTCTCTCCCA	SITE|p.R280K|c.839G>A|17,SITE|p.R280K|c.839G>A|6,SITE|p.R280K|c.839G>A|57,SITE|p.R280K|c.839G>A|11,CODON|p.0?|c.1_1182del1182|6,CODON|p.R280R|c.840A>G|3,CODON|p.R280S|c.840A>T|11,CODON|p.R280S|c.840A>C|6,CODON|p.R280T|c.839G>C|63,CODON|p.R280T|c.839G>C|4,CODON|p.R280I|c.839G>T|17,CODON|p.R280I|c.839G>T|4,CODON|p.R280I|c.839G>T|3,CODON|p.R280T|c.839G>C|10,BUFFER|p.T284A|c.850A>G|3,BUFFER|p.T284P|c.850A>C|8,BUFFER|p.R283fs*62|c.847delC|3,BUFFER|p.R283P|c.848G>C|4,BUFFER|p.R283H|c.848G>A|12,BUFFER|p.R283L|c.848G>T|4,BUFFER|p.R283P|c.848G>C|24,BUFFER|p.R283C|c.847C>T|19,BUFFER|p.R282R|c.846G>A|4,BUFFER|p.R282Q|c.845G>A|5,BUFFER|p.R282Q|c.845G>A|26,BUFFER|p.R282L|c.845G>T|3,BUFFER|p.R282Q|c.845G>A|3,BUFFER|p.R282P|c.845G>C|17,BUFFER|p.R282W|c.843_844CC>TT|10,BUFFER|p.R282G|c.844C>G|5,BUFFER|p.R282W|c.844C>T|49,BUFFER|p.R282G|c.844C>G|3,BUFFER|p.R282R|c.844C>A|3,BUFFER|p.R282W|c.844C>T|86,BUFFER|p.R282G|c.844C>G|29,BUFFER|p.R282W|c.844C>T|450,BUFFER|p.R282W|c.844C>T|58,BUFFER|p.D281D|c.843C>T|5,BUFFER|p.D281E|c.843C>A|3,BUFFER|p.D281E|c.843C>G|20,BUFFER|p.D281E|c.843C>A|3,BUFFER|p.D281E|c.843C>A|12,BUFFER|p.D281V|c.842A>T|5,BUFFER|p.D281G|c.842A>G|10,BUFFER|p.D281H|c.841G>C|6,BUFFER|p.D281H|c.841G>C|28,BUFFER|p.D281H|c.841G>C|3,BUFFER|p.D281H|c.841G>C|4,BUFFER|p.D281Y|c.841G>T|7,BUFFER|p.D281N|c.841G>A|7,BUFFER|p.D281N|c.841G>A|3,BUFFER|p.D281Y|c.841G>T|13,BUFFER|p.D281Y|c.841G>T|4,BUFFER|p.D281N|c.841G>A|27,BUFFER|p.R280*|c.838A>T|12,BUFFER|p.R280G|c.838A>G|6,BUFFER|p.R280G|c.838A>G|3,BUFFER|p.R280G|c.838A>G|23,BUFFER|p.R280fs*65|c.835delG|5,BUFFER|p.G279E|c.836G>A|4,BUFFER|p.G279E|c.836G>A|34,BUFFER|p.G279V|c.836G>T|3,BUFFER|p.G279R|c.835G>A|7,BUFFER|p.G279W|c.835G>T|3,BUFFER|p.P278fs*67|c.833delC|3,BUFFER|p.P278F|c.832_833CC>TT|3,BUFFER|p.P278H|c.833C>A|15,BUFFER|p.P278R|c.833C>G|5,BUFFER|p.P278R|c.833C>G|30,BUFFER|p.P278R|c.833C>G|3,BUFFER|p.P278H|c.833C>A|3,BUFFER|p.P278L|c.833C>T|3,BUFFER|p.P278L|c.833C>T|11,BUFFER|p.P278L|c.833C>T|65,BUFFER|p.P278L|c.833C>T|8,BUFFER|p.P278fs*67|c.832delC|3,BUFFER|p.P278T|c.832C>A|29,BUFFER|p.P278A|c.832C>G|25,BUFFER|p.P278T|c.832C>A|8,BUFFER|p.P278A|c.832C>G|4,BUFFER|p.P278A|c.832C>G|10,BUFFER|p.P278S|c.832C>T|4,BUFFER|p.P278S|c.832C>T|3,BUFFER|p.P278S|c.832C>T|8,BUFFER|p.P278S|c.832C>T|55,BUFFER|p.C277*|c.831T>A|6,BUFFER|p.C277C|c.831T>C|4,BUFFER|p.C277Y|c.830G>A|15,BUFFER|p.C277F|c.830G>T|22,BUFFER|p.C277G|c.829T>G|5	byCluster	.	hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386	.	.	ENSP00000269305	.	8/11	.	.	.	.	.	.	.	.	CM993218,rs121912660,TP53_g.13819G>C,TP53_g.13819G>T,TP53_g.13819G>A,COSM10724,COSM11287,COSM10728,COSM562340,COSM129830,COSM254987,COSM3522694,COSM3733332,COSM3723939,COSM1659144,COSM1646813,COSM1649340	8/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	.	.	possibly_damaging(0.83)	.	deleterious(0.04)	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,missense_variant,p.Arg280Lys,ENST00000420246,;TP53,missense_variant,p.Arg280Lys,ENST00000269305,;TP53,missense_variant,p.Arg148Lys,ENST00000509690,;TP53,missense_variant,p.Arg280Lys,ENST00000359597,;TP53,missense_variant,p.Arg280Lys,ENST00000445888,;TP53,missense_variant,p.Arg280Lys,ENST00000455263,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,downstream_gene_variant,,ENST00000505014,;	1029	105	64	SUCCESS
DYM	54808	.	GRCh37	18	46812938	46812938	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	73	210	1	ENST00000269445.6:c.812C>T	p.Ala271Val	p.A271V	ENST00000269445	NM_017653.3	271	gCt/gTt	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS11937.1	812	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGCCGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742	.	.	ENSP00000269445	.	9/17	.	.	.	.	.	.	.	.	.	9/17	PASS	ENST00000269445	Transcript	.	.	ENSG00000141627	21317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.28)	.	DYM_HUMAN	DYM	HGNC	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN	.	UPI00001AE953	SNV	DYM,missense_variant,p.Ala116Val,ENST00000581738,;DYM,missense_variant,p.Ala115Val,ENST00000583225,;DYM,missense_variant,p.Ala116Val,ENST00000584983,;DYM,missense_variant,p.Ala271Val,ENST00000269445,;DYM,missense_variant,p.Ala81Val,ENST00000442713,;DYM,missense_variant,p.Ala116Val,ENST00000583280,;DYM,non_coding_transcript_exon_variant,,ENST00000580615,;DYM,3_prime_UTR_variant,,ENST00000418472,;	1270	212	200	SUCCESS
CTDP1	9150	.	GRCh37	18	77474550	77474550	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200499662	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	47	182	2	ENST00000299543.7:c.1090G>A	p.Gly364Arg	p.G364R	ENST00000299543	NM_001202504.1	364	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS12017.1	1090	RADIA|SOMATICSNIPER|VARSCANS	.	CTGAGGGGGTA	NONE	.	.	hmmpanther:PTHR23081:SF0,hmmpanther:PTHR23081	.	.	ENSP00000299543	.	8/13	.	.	.	.	.	.	.	.	.	8/13	PASS	ENST00000299543	Transcript	.	.	ENSG00000060069	2498	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	.	tolerated(0.16)	.	CTDP1_HUMAN	CTDP1	HGNC	K7EPW4_HUMAN	.	UPI000013C57B	SNV	CTDP1,missense_variant,p.Gly296Arg,ENST00000591598,;CTDP1,missense_variant,p.Gly364Arg,ENST00000075430,;CTDP1,missense_variant,p.Gly364Arg,ENST00000299543,;	1237	184	158	SUCCESS
PPAN	56342	.	GRCh37	19	10221280	10221280	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	41	103	0	ENST00000253107.7:c.1021G>T	p.Glu341Ter	p.E341*	ENST00000253107	NM_020230.5	341	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS42498.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGGAGGCC	BUFFER|p.Q339Q|c.1017G>A|3,BUFFER|p.Q339Q|c.1017G>A|3	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12661,hmmpanther:PTHR12661:SF5	.	.	ENSP00000450710	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000556468	Transcript	.	.	ENSG00000130810	9227	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSF1_HUMAN	PPAN	HGNC	.	.	UPI000016A418	SNV	PPAN,stop_gained,p.Glu288Ter,ENST00000393793,;PPAN,stop_gained,p.Glu341Ter,ENST00000253107,;PPAN-P2RY11,stop_gained,p.Glu341Ter,ENST00000393796,;PPAN-P2RY11,stop_gained,p.Glu341Ter,ENST00000428358,;PPAN,stop_gained,p.Glu341Ter,ENST00000556468,;PPAN,stop_gained,p.Glu101Ter,ENST00000444703,;EIF3G,downstream_gene_variant,,ENST00000589454,;PPAN,downstream_gene_variant,,ENST00000430370,;P2RY11,upstream_gene_variant,,ENST00000321826,;PPAN,downstream_gene_variant,,ENST00000446223,;EIF3G,downstream_gene_variant,,ENST00000593054,;EIF3G,downstream_gene_variant,,ENST00000253108,;SNORD105,downstream_gene_variant,,ENST00000386910,;SNORD105B,downstream_gene_variant,,ENST00000458770,;P2RY11,upstream_gene_variant,,ENST00000471843,;PPAN,non_coding_transcript_exon_variant,,ENST00000468881,;PPAN,non_coding_transcript_exon_variant,,ENST00000486482,;EIF3G,downstream_gene_variant,,ENST00000590158,;PPAN,downstream_gene_variant,,ENST00000466025,;	1048	103	128	SUCCESS
ZNF493	284443	.	GRCh37	19	21607547	21607547	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1305249963	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	168	75	266	0	ENST00000355504.4:c.1702C>T	p.Arg568Ter	p.R568*	ENST00000355504	NM_175910.6	568	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS42536.1	2086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACCGATTC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	SNV	ZNF493,stop_gained,p.Arg568Ter,ENST00000355504,;ZNF493,stop_gained,p.Arg696Ter,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	2195	266	243	SUCCESS
ZNF227	7770	.	GRCh37	19	44740511	44740511	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	42	96	0	ENST00000313040.7:c.1928A>T	p.Gln643Leu	p.Q643L	ENST00000313040	NM_182490.1	643	cAg/cTg	0	.	.	.	.	.	T	Q/L	protein_coding	YES	CCDS12636.1	1928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCAGTCCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.05)	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	SNV	ZNF227,missense_variant,p.Gln592Leu,ENST00000589005,;ZNF227,missense_variant,p.Gln643Leu,ENST00000313040,;ZNF227,missense_variant,p.Gln592Leu,ENST00000391961,;ZNF235,3_prime_UTR_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000588394,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	2133	96	116	SUCCESS
PPP6R1	22870	.	GRCh37	19	55756722	55756722	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	64	0	ENST00000412770.2:c.463C>T	p.Gln155Ter	p.Q155*	ENST00000412770	NM_014931.3	155	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS46186.1	463	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTGCAGCA	NONE	.	.	hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634,Pfam_domain:PF04499,Superfamily_domains:SSF48371	.	.	ENSP00000414202	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000412770	Transcript	.	.	ENSG00000105063	29195	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP6R1_HUMAN	PPP6R1	HGNC	Q96ID3_HUMAN,K7EM28_HUMAN	.	UPI0000202C6D	SNV	PPP6R1,stop_gained,p.Gln155Ter,ENST00000412770,;PPP6R1,stop_gained,p.Gln155Ter,ENST00000592242,;PPP6R1,stop_gained,p.Gln155Ter,ENST00000587283,;PPP6R1,upstream_gene_variant,,ENST00000591602,;PPP6R1,upstream_gene_variant,,ENST00000591323,;	1030	64	67	SUCCESS
SLC25A41	284427	.	GRCh37	19	6427484	6427484	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs370967882	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	42	146	0	ENST00000321510.6:c.653G>A	p.Arg218Gln	p.R218Q	ENST00000321510	NM_173637.3	218	cGg/cAg	0	T:0	T:0	.	T:0.0014	.	T	R/Q	protein_coding	YES	CCDS45937.1	653	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCCGACGC	NONE	byFrequency|byCluster|by1000G	.	Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089:SF181,hmmpanther:PTHR24089,PROSITE_profiles:PS50920	T:0	T:0.0001	ENSP00000322649	T:0.002	5/7	.	.	.	.	.	.	.	.	rs370967882	5/7	common_in_exac	ENST00000321510	Transcript	.	T:0.0012	ENSG00000181240	28533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	T:0.0031	tolerated(0.06)	.	S2541_HUMAN	SLC25A41	HGNC	.	.	UPI00003751E5	SNV	SLC25A41,missense_variant,p.Arg218Gln,ENST00000321510,;KHSRP,upstream_gene_variant,,ENST00000599395,;KHSRP,upstream_gene_variant,,ENST00000398148,;KHSRP,upstream_gene_variant,,ENST00000595548,;KHSRP,upstream_gene_variant,,ENST00000595258,;SLC25A41,missense_variant,p.Arg218Gln,ENST00000597558,;SLC25A41,3_prime_UTR_variant,,ENST00000458275,;	722	146	137	SUCCESS
MUC16	94025	.	GRCh37	19	9060294	9060294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	26	74	0	ENST00000397910.4:c.27152C>A	p.Ser9051Tyr	p.S9051Y	ENST00000397910	NM_024690.2	9051	tCc/tAc	0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS54212.1	27152	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGGACTGA	NONE	.	.	.	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Ser9051Tyr,ENST00000397910,;	27356	74	90	SUCCESS
CTTNBP2NL	55917	.	GRCh37	1	112999349	112999364	+	frameshift_variant	Frame_Shift_Del	DEL	CACTGTCTCCCAGCAG	CACTGTCTCCCAGCAG	-	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	CACTGTCTCCCAGCAG	CACTGTCTCCCAGCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	26	32	95	0	ENST00000271277.6:c.1240_1255del	p.Ser414ProfsTer5	p.S414Pfs*5	ENST00000271277	NM_018704.2	412	tCACTGTCTCCCAGCAGc/tc	0	.	.	.	.	.	-	SLSPSS/X	protein_coding	YES	CCDS845.1	1235-1250	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGCTCACTGTCTCCCAGCAGCACTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF9	.	.	ENSP00000271277	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000271277	Transcript	.	.	ENSG00000143079	25330	5	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CT2NL_HUMAN	CTTNBP2NL	HGNC	B1AMN7_HUMAN	.	UPI000006ED23	deletion	CTTNBP2NL,frameshift_variant,p.Ser414ProfsTer5,ENST00000271277,;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,;CTTNBP2NL,upstream_gene_variant,,ENST00000607039,;	1460-1475	95	58	SUCCESS
OLFML3	56944	.	GRCh37	1	114524021	114524021	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	47	0	ENST00000320334.4:c.851G>T	p.Trp284Leu	p.W284L	ENST00000320334	NM_020190.2	284	tGg/tTg	0	.	.	.	.	.	T	W/L	protein_coding	YES	CCDS870.1	851	MUTECT|MUSE	.	TCTTTGGGCTG	NONE	.	.	SMART_domains:SM00284,Pfam_domain:PF02191,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF8,PROSITE_profiles:PS51132	.	.	ENSP00000322273	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000320334	Transcript	.	.	ENSG00000116774	24956	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(1)	.	deleterious(0)	.	OLFL3_HUMAN	OLFML3	HGNC	M1LAK4_HUMAN,B4DNG0_HUMAN	.	UPI000003B091	SNV	OLFML3,missense_variant,p.Trp264Leu,ENST00000369551,;OLFML3,missense_variant,p.Trp264Leu,ENST00000393300,;OLFML3,missense_variant,p.Trp284Leu,ENST00000320334,;HIPK1,downstream_gene_variant,,ENST00000361587,;HIPK1,downstream_gene_variant,,ENST00000369554,;HIPK1,downstream_gene_variant,,ENST00000406344,;HIPK1,downstream_gene_variant,,ENST00000369558,;HIPK1,downstream_gene_variant,,ENST00000340480,;OLFML3,non_coding_transcript_exon_variant,,ENST00000491700,;	925	47	52	SUCCESS
LOR	0	.	GRCh37	1	153233515	153233515	+	synonymous_variant	Silent	SNP	C	C	T	rs747858365	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	4	70	0	ENST00000368742.3:c.90C>T	p.Gly30=	p.G30=	ENST00000368742	NM_000427.2	30	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS30870.1	90	MUTECT|MUSE	.	AGCGGCGGTGG	BUFFER|p.G27G|c.81C>T|6,BUFFER|p.S29G|c.85A>G|4	.	.	Low_complexity_(Seg):seg,PROSITE_profiles:PS51257	.	.	ENSP00000357731	.	2/2	.	.	.	.	.	.	.	.	rs747858365	2/2	PASS	ENST00000368742	Transcript	.	.	ENSG00000203782	6663	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LORI_HUMAN	LOR	HGNC	Q6FHY3_HUMAN	.	UPI0000470BBD	SNV	LOR,synonymous_variant,p.%3D,ENST00000368742,;	147	70	80	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156918128	156918128	+	synonymous_variant	Silent	SNP	G	G	A	rs1307284762	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	19	102	0	ENST00000361409.2:c.1968C>T	p.Thr656=	p.T656=	ENST00000361409	NM_014784.3	656	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS1163.1	2088	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGGTAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22825:SF5,hmmpanther:PTHR22825	.	.	ENSP00000357177	.	23/41	.	.	.	.	.	.	.	.	.	23/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,synonymous_variant,p.%3D,ENST00000361409,;ARHGEF11,synonymous_variant,p.%3D,ENST00000315174,;ARHGEF11,synonymous_variant,p.%3D,ENST00000368194,;ARHGEF11,upstream_gene_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000461678,;	3128	102	132	SUCCESS
DCAF6	55827	.	GRCh37	1	167944101	167944101	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	269	280	401	0	ENST00000312263.6:c.286A>G	p.Asn96Asp	p.N96D	ENST00000312263	NM_001017977.2	96	Aac/Gac	0	.	.	.	.	.	G	N/D	protein_coding	YES	CCDS55657.1	286	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAAACATA	NONE	.	.	PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000356814	.	4/22	.	.	.	.	.	.	.	.	.	4/22	PASS	ENST00000367840	Transcript	.	.	ENSG00000143164	30002	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0)	.	DCAF6_HUMAN	DCAF6	HGNC	.	.	UPI00000743AB	SNV	DCAF6,missense_variant,p.Asn96Asp,ENST00000367840,;DCAF6,missense_variant,p.Asn96Asp,ENST00000312263,;DCAF6,missense_variant,p.Asn65Asp,ENST00000432587,;DCAF6,missense_variant,p.Asn96Asp,ENST00000367843,;DCAF6,non_coding_transcript_exon_variant,,ENST00000470919,;DCAF6,non_coding_transcript_exon_variant,,ENST00000491067,;DCAF6,non_coding_transcript_exon_variant,,ENST00000455334,;DCAF6,non_coding_transcript_exon_variant,,ENST00000450548,;DCAF6,missense_variant,p.Asn96Asp,ENST00000470721,;	380	401	549	SUCCESS
KIFAP3	22920	.	GRCh37	1	170003616	170003616	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	400	122	410	0	ENST00000361580.2:c.639T>A	p.Leu213=	p.L213=	ENST00000361580	NM_014970.3	213	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1288.1	639	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAATAAGTCC	NONE	.	.	hmmpanther:PTHR15605,Pfam_domain:PF05804	.	.	ENSP00000354560	.	7/20	.	.	.	.	.	.	.	.	.	7/20	PASS	ENST00000361580	Transcript	.	.	ENSG00000075945	17060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIFA3_HUMAN	KIFAP3	HGNC	B7Z7E7_HUMAN	.	UPI000006CD6C	SNV	KIFAP3,synonymous_variant,p.%3D,ENST00000361580,;KIFAP3,synonymous_variant,p.%3D,ENST00000538366,;KIFAP3,synonymous_variant,p.%3D,ENST00000367765,;KIFAP3,synonymous_variant,p.%3D,ENST00000367767,;KIFAP3,upstream_gene_variant,,ENST00000474292,;KIFAP3,downstream_gene_variant,,ENST00000490550,;	867	410	523	SUCCESS
SNORA77	677843	.	GRCh37	1	203698746	203698746	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	rs568068257	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	38	0	ENST00000408716.1:n.38G>T		p.*13*	ENST00000408716	NR_003019.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1440.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCAGGTGCTT	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000350310	.	.	.	.	.	.	.	.	.	.	rs568068257	.	PASS	ENST00000357681	Transcript	.	.	ENSG00000058668	817	.	.	MODIFIER	20/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2B4_HUMAN	ATP2B4	HGNC	A1X4Q2_HUMAN	.	UPI000002A464	SNV	ATP2B4,intron_variant,,ENST00000341360,;ATP2B4,intron_variant,,ENST00000356729,;ATP2B4,intron_variant,,ENST00000391954,;ATP2B4,intron_variant,,ENST00000367219,;ATP2B4,intron_variant,,ENST00000367218,;ATP2B4,intron_variant,,ENST00000357681,;ATP2B4,downstream_gene_variant,,ENST00000458092,;SNORA77,non_coding_transcript_exon_variant,,ENST00000408716,;ATP2B4,downstream_gene_variant,,ENST00000466407,;ATP2B4,intron_variant,,ENST00000484746,;	.	38	37	SUCCESS
NFASC	23114	.	GRCh37	1	204985578	204985578	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	46	137	0	ENST00000339876.6:c.3634T>C	p.Tyr1212His	p.Y1212H	ENST00000339876	NM_001005388.2	1212	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS53460.1	3634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTACACG	NONE	.	.	Pfam_domain:PF13882,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41	.	.	ENSP00000344786	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000339876	Transcript	.	.	ENSG00000163531	29866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0)	.	NFASC_HUMAN	NFASC	HGNC	D6RHX4_HUMAN	.	UPI0000237208	SNV	NFASC,missense_variant,p.Tyr1129His,ENST00000404076,;NFASC,missense_variant,p.Tyr1240His,ENST00000367170,;NFASC,missense_variant,p.Tyr190His,ENST00000447819,;NFASC,missense_variant,p.Tyr1229His,ENST00000338515,;NFASC,missense_variant,p.Tyr1141His,ENST00000360049,;NFASC,missense_variant,p.Tyr270His,ENST00000425360,;NFASC,missense_variant,p.Tyr1212His,ENST00000401399,;NFASC,missense_variant,p.Tyr1146His,ENST00000404907,;NFASC,missense_variant,p.Tyr1304His,ENST00000367171,;NFASC,missense_variant,p.Tyr1146His,ENST00000539706,;NFASC,missense_variant,p.Tyr1013His,ENST00000367173,;NFASC,missense_variant,p.Tyr1212His,ENST00000339876,;NFASC,missense_variant,p.Tyr1137His,ENST00000430393,;NFASC,missense_variant,p.Tyr1141His,ENST00000513543,;NFASC,missense_variant,p.Tyr1043His,ENST00000367169,;NFASC,missense_variant,p.Tyr1319His,ENST00000367172,;NFASC,missense_variant,p.Tyr1196His,ENST00000338586,;NFASC,downstream_gene_variant,,ENST00000413225,;NFASC,non_coding_transcript_exon_variant,,ENST00000495396,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000503221,;	3962	137	189	SUCCESS
DSTYK	25778	.	GRCh37	1	205131199	205131199	+	missense_variant	Missense_Mutation	SNP	T	T	C	.	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	51	125	0	ENST00000367162.3:c.1783A>G	p.Ser595Gly	p.S595G	ENST00000367162	NM_015375.2	595	Agt/Ggt	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS1451.1	1783	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACTATTGA	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54	.	.	ENSP00000356130	.	6/13	.	.	.	.	.	.	.	.	COSM4027401,COSM4027400	6/13	PASS	ENST00000367162	Transcript	.	.	ENSG00000133059	29043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	benign(0.051)	.	deleterious(0.02)	1,1	DUSTY_HUMAN	DSTYK	HGNC	.	.	UPI00001D7D39	SNV	DSTYK,missense_variant,p.Ser595Gly,ENST00000367162,;DSTYK,missense_variant,p.Ser595Gly,ENST00000367161,;DSTYK,intron_variant,,ENST00000367160,;	1814	125	197	SUCCESS
NUP133	55746	.	GRCh37	1	229600489	229600489	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	39	144	1	ENST00000261396.3:c.2433C>A	p.Cys811Ter	p.C811*	ENST00000261396	NM_018230.2	811	tgC/tgA	0	.	.	.	.	.	T	C/*	protein_coding	YES	CCDS1579.1	2433	RADIA|MUTECT|MUSE|VARSCANS	.	AGGAAGCAATC	NONE	.	.	Pfam_domain:PF03177,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	.	.	ENSP00000261396	.	18/26	.	.	.	.	.	.	.	.	.	18/26	PASS	ENST00000261396	Transcript	.	.	ENSG00000069248	18016	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NU133_HUMAN	NUP133	HGNC	.	.	UPI000013D17A	SNV	NUP133,stop_gained,p.Cys795Ter,ENST00000537506,;NUP133,stop_gained,p.Cys811Ter,ENST00000261396,;	2525	145	202	SUCCESS
HNF4A	3172	.	GRCh37	20	43052656	43052656	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	43	90	0	ENST00000316099.4:c.893-2A>T		p.X298_splice	ENST00000316099	NM_001258355.1	298		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13330.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTAGATGC	NONE	.	.	.	.	.	ENSP00000312987	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000316099	Transcript	1	.	ENSG00000101076	5024	.	.	HIGH	7/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNF4A_HUMAN	HNF4A	HGNC	F1D8T1_HUMAN	.	UPI000016A0BA	SNV	HNF4A,splice_acceptor_variant,,ENST00000443598,;HNF4A,splice_acceptor_variant,,ENST00000415691,;HNF4A,splice_acceptor_variant,,ENST00000609795,;HNF4A,splice_acceptor_variant,,ENST00000316099,;HNF4A,splice_acceptor_variant,,ENST00000316673,;HNF4A,splice_acceptor_variant,,ENST00000457232,;AL132772.1,downstream_gene_variant,,ENST00000581483,;HNF4A,splice_acceptor_variant,,ENST00000372920,;	.	90	117	SUCCESS
NFATC2	4773	.	GRCh37	20	50140194	50140194	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	48	119	0	ENST00000396009.3:c.586G>A	p.Gly196Ser	p.G196S	ENST00000396009	NM_001258297.1	196	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS13437.1	586	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCCGTTAT	NONE	.	.	hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.421)	.	tolerated(0.77)	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,missense_variant,p.Gly196Ser,ENST00000396009,;NFATC2,missense_variant,p.Gly176Ser,ENST00000609943,;NFATC2,missense_variant,p.Gly196Ser,ENST00000371564,;NFATC2,missense_variant,p.Gly176Ser,ENST00000414705,;NFATC2,intron_variant,,ENST00000609507,;NFATC2,intron_variant,,ENST00000610033,;	806	119	115	SUCCESS
HSFY1P1	27437	.	GRCh37	22	17308821	17308821	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	52	0	ENST00000425038.1:n.458T>G		p.*153*	ENST00000425038				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGACAG	NONE	.	.	.	.	.	.	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000425038	Transcript	.	.	ENSG00000229027	1846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSFY1P1	HGNC	.	.	.	SNV	HSFY1P1,non_coding_transcript_exon_variant,,ENST00000425038,;HSFY1P1,non_coding_transcript_exon_variant,,ENST00000423928,;	458	52	41	SUCCESS
TBX1	6899	.	GRCh37	22	19754071	19754071	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	248	162	348	0	ENST00000329705.7:c.1009+546G>T		p.*337*	ENST00000329705	NM_080646.1	390		0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS13767.1	1169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGGAGGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11267	.	.	ENSP00000331791	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000332710	Transcript	.	.	ENSG00000184058	11592	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.057)	.	deleterious_low_confidence(0.05)	.	TBX1_HUMAN	TBX1	HGNC	D9ZGG0_HUMAN	.	UPI0000073068	SNV	TBX1,missense_variant,p.Gly390Val,ENST00000332710,;TBX1,intron_variant,,ENST00000359500,;TBX1,intron_variant,,ENST00000329705,;TBX1,downstream_gene_variant,,ENST00000475303,;TBX1,downstream_gene_variant,,ENST00000484336,;	1298	348	410	SUCCESS
C22orf15	150248	.	GRCh37	22	24106453	24106453	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs553969002	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	26	74	0	ENST00000402217.3:c.119T>C	p.Ile40Thr	p.I40T	ENST00000402217	NM_182520.2	40	aTt/aCt	0	.	C:0	.	C:0	.	C	I/T	protein_coding	YES	CCDS13814.2	119	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCATTGCTC	NONE	by1000G	.	.	C:0	.	ENSP00000384965	C:0	3/6	.	.	.	.	.	.	.	.	rs553969002	3/6	PASS	ENST00000402217	Transcript	.	C:0.0002	ENSG00000169314	15558	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.206)	C:0.001	deleterious(0.01)	.	CV015_HUMAN	C22orf15	HGNC	.	.	UPI0000072091	SNV	C22orf15,missense_variant,p.Ile40Thr,ENST00000402217,;C22orf15,missense_variant,p.Ile40Thr,ENST00000382821,;C22orf15,missense_variant,p.Ile40Thr,ENST00000305199,;CHCHD10,downstream_gene_variant,,ENST00000484558,;CHCHD10,downstream_gene_variant,,ENST00000520222,;CHCHD10,downstream_gene_variant,,ENST00000401675,;MMP11,upstream_gene_variant,,ENST00000489582,;MMP11,upstream_gene_variant,,ENST00000477567,;C22orf15,non_coding_transcript_exon_variant,,ENST00000498542,;C22orf15,non_coding_transcript_exon_variant,,ENST00000477921,;CHCHD10,downstream_gene_variant,,ENST00000517886,;MMP11,upstream_gene_variant,,ENST00000465385,;CHCHD10,downstream_gene_variant,,ENST00000523865,;	372	74	81	SUCCESS
IGKV3-7	28915	.	GRCh37	2	89278129	89278129	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs759765665	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	117	164	0	ENST00000390247.2:c.206T>A	p.Ile69Asn	p.I69N	ENST00000390247		69	aTc/aAc	0	.	.	.	.	.	T	I/N	IG_V_gene	YES	.	206	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAGATGAGG	NONE	byFrequency	.	Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,PROSITE_profiles:PS50835	.	.	ENSP00000374782	.	2/2	.	.	.	.	.	.	.	.	rs759765665	2/2	PASS	ENST00000390247	Transcript	.	.	ENSG00000243063	5821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.989)	.	deleterious(0)	.	.	IGKV3-7	HGNC	.	.	UPI000173A596	SNV	IGKV3-7,missense_variant,p.Ile69Asn,ENST00000390247,;	303	164	161	SUCCESS
MAL	4118	.	GRCh37	2	95719156	95719156	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745452422	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	43	58	0	ENST00000309988.4:c.418G>A	p.Val140Met	p.V140M	ENST00000309988	NM_002371.3	140	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS2006.1	418	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACGTGGTC	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF12,Pfam_domain:PF01284	.	.	ENSP00000310880	.	4/4	.	.	.	.	.	.	.	.	rs745452422	4/4	PASS	ENST00000309988	Transcript	.	.	ENSG00000172005	6817	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.269)	.	tolerated(0.22)	.	MAL_HUMAN	MAL	HGNC	.	.	UPI000004494A	SNV	MAL,missense_variant,p.Val84Met,ENST00000354078,;MAL,missense_variant,p.Val140Met,ENST00000309988,;MAL,missense_variant,p.Val42Met,ENST00000349807,;MAL,missense_variant,p.Val98Met,ENST00000353004,;AC103563.9,upstream_gene_variant,,ENST00000442200,;	527	58	66	SUCCESS
CP	1356	.	GRCh37	3	148925166	148925166	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	102	0	ENST00000264613.6:c.1020T>G	p.Asn340Lys	p.N340K	ENST00000264613	NM_000096.3	340	aaT/aaG	0	.	.	.	.	.	C	N/K	protein_coding	YES	CCDS3141.1	1020	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGATTCTG	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,PROSITE_patterns:PS00079,Gene3D:2.60.40.420,Pfam_domain:PF00394,Superfamily_domains:SSF49503	.	.	ENSP00000264613	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000264613	Transcript	.	.	ENSG00000047457	2295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.753)	.	deleterious(0.01)	.	CERU_HUMAN	CP	HGNC	.	.	UPI000045718B	SNV	CP,missense_variant,p.Asn340Lys,ENST00000264613,;CP,missense_variant,p.Asn123Lys,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Asn340Lys,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	1283	102	105	SUCCESS
TMEM44	93109	.	GRCh37	3	194353944	194353944	+	start_lost	Translation_Start_Site	SNP	T	T	C	rs762425474	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	27	111	0	ENST00000392432.2:c.1A>G	p.Met1?	p.M1?	ENST00000392432	NM_001166305.1	1	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS54699.1	1	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATGGCGC	NONE	.	.	hmmpanther:PTHR16201:SF33,hmmpanther:PTHR16201	.	.	ENSP00000376227	.	1/11	.	.	.	.	.	.	.	.	rs762425474	1/11	PASS	ENST00000392432	Transcript	.	.	ENSG00000145014	25120	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.043)	.	deleterious_low_confidence(0)	.	TMM44_HUMAN	TMEM44	HGNC	Q96I73_HUMAN	.	UPI00015E0940	SNV	TMEM44,start_lost,p.Met1?,ENST00000473092,;TMEM44,start_lost,p.Met1?,ENST00000381975,;TMEM44,start_lost,p.Met1?,ENST00000392432,;TMEM44,start_lost,p.Met1?,ENST00000347147,;TMEM44,start_lost,p.Met1?,ENST00000273580,;TMEM44,intron_variant,,ENST00000330115,;RP11-534C12.1,downstream_gene_variant,,ENST00000609789,;AC046143.3,intron_variant,,ENST00000447139,;TMEM44,intron_variant,,ENST00000494894,;TMEM44,start_lost,p.Met1?,ENST00000430601,;TMEM44,intron_variant,,ENST00000419280,;	207	111	87	SUCCESS
LSG1	55341	.	GRCh37	3	194369468	194369468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	31	98	0	ENST00000265245.5:c.1485A>T	p.Arg495Ser	p.R495S	ENST00000265245	NM_018385.2	495	agA/agT	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS33922.1	1485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTCTAGG	NONE	.	.	hmmpanther:PTHR11089:SF7,hmmpanther:PTHR11089,Gene3D:1pujA02	.	.	ENSP00000265245	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000265245	Transcript	.	.	ENSG00000041802	25652	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.026)	.	tolerated(0.55)	.	LSG1_HUMAN	LSG1	HGNC	.	.	UPI0000DBEEC1	SNV	LSG1,missense_variant,p.Arg212Ser,ENST00000437613,;LSG1,missense_variant,p.Arg495Ser,ENST00000265245,;AC046143.2,upstream_gene_variant,,ENST00000582474,;AC046143.3,downstream_gene_variant,,ENST00000447139,;LSG1,non_coding_transcript_exon_variant,,ENST00000460584,;LSG1,downstream_gene_variant,,ENST00000461343,;LSG1,upstream_gene_variant,,ENST00000475763,;LSG1,downstream_gene_variant,,ENST00000466391,;	1800	98	98	SUCCESS
CCDC13	152206	.	GRCh37	3	42750482	42750482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	27	0	ENST00000310232.6:c.2138G>T	p.Gly713Val	p.G713V	ENST00000310232	NM_144719.3	713	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS2705.1	2138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTGCCTGTC	NONE	.	.	hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1	.	.	ENSP00000309836	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000310232	Transcript	.	.	ENSG00000244607	26358	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	deleterious(0)	.	CCD13_HUMAN	CCDC13	HGNC	.	.	UPI00001AEF4E	SNV	CCDC13,missense_variant,p.Gly713Val,ENST00000310232,;HHATL-AS1,downstream_gene_variant,,ENST00000423165,;HHATL-AS1,downstream_gene_variant,,ENST00000600839,;CCDC13,intron_variant,,ENST00000496027,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000472921,;CCDC13,downstream_gene_variant,,ENST00000466031,;	2222	27	32	SUCCESS
ENPEP	2028	.	GRCh37	4	111397874	111397874	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	29	90	0	ENST00000265162.5:c.304T>C	p.Tyr102His	p.Y102H	ENST00000265162	NM_001977.3	102	Tac/Cac	0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS3691.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTACGAC	NONE	.	.	Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165	.	.	ENSP00000265162	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000265162	Transcript	.	.	ENSG00000138792	3355	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AMPE_HUMAN	ENPEP	HGNC	.	.	UPI000013D5C6	SNV	ENPEP,missense_variant,p.Tyr102His,ENST00000265162,;ENPEP,intron_variant,,ENST00000510961,;	646	90	56	SUCCESS
FAM193A	8603	.	GRCh37	4	2664933	2664933	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	163	425	0	ENST00000324666.5:c.1124A>C	p.Glu375Ala	p.E375A	ENST00000324666	NM_001256666.1	375	gAa/gCa	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS58875.1	1124	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAAGATG	NONE	.	.	hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109	.	.	ENSP00000324587	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000324666	Transcript	.	.	ENSG00000125386	16822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.107)	.	deleterious_low_confidence(0.03)	.	F193A_HUMAN	FAM193A	HGNC	E7EUR8_HUMAN,D6R990_HUMAN	.	UPI0000551BCA	SNV	FAM193A,missense_variant,p.Glu375Ala,ENST00000545951,;FAM193A,missense_variant,p.Glu229Ala,ENST00000513350,;FAM193A,missense_variant,p.Glu375Ala,ENST00000324666,;FAM193A,missense_variant,p.Glu375Ala,ENST00000382839,;FAM193A,missense_variant,p.Glu375Ala,ENST00000505311,;FAM193A,missense_variant,p.Glu397Ala,ENST00000502458,;FAM193A,missense_variant,p.Glu375Ala,ENST00000512465,;FAM193A,missense_variant,p.Glu375Ala,ENST00000513898,;FAM193A,downstream_gene_variant,,ENST00000506904,;	1475	425	291	SUCCESS
PCDHB5	26167	.	GRCh37	5	140515199	140515199	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	151	0	ENST00000231134.5:c.183T>A	p.Thr61=	p.T61=	ENST00000231134	NM_015669.2	61	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS4247.1	183	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACTCGGGG	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,synonymous_variant,p.%3D,ENST00000231134,;	400	151	94	SUCCESS
TRIO	7204	.	GRCh37	5	14304637	14304637	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	222	47	140	0	ENST00000344204.4:c.1436A>G	p.Asp479Gly	p.D479G	ENST00000344204	NM_007118.2	479	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS3883.1	1436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGACCTAG	NONE	.	.	hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826	.	.	ENSP00000339299	.	8/57	.	.	.	.	.	.	.	.	.	8/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.444)	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,missense_variant,p.Asp479Gly,ENST00000537187,;TRIO,missense_variant,p.Asp430Gly,ENST00000509967,;TRIO,missense_variant,p.Asp479Gly,ENST00000344204,;TRIO,missense_variant,p.Asp212Gly,ENST00000513206,;TRIO,missense_variant,p.Asp420Gly,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;	1460	140	269	SUCCESS
IRX1	79192	.	GRCh37	5	3596440	3596440	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	12	32	0	ENST00000302006.3:c.221C>A	p.Pro74His	p.P74H	ENST00000302006	NM_024337.3	74	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS34132.1	221	MUTECT|MUSE	.	CGCGCCCAACT	NONE	.	.	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211,Low_complexity_(Seg):seg	.	.	ENSP00000305244	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.953)	.	tolerated(0.67)	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,missense_variant,p.Pro74His,ENST00000302006,;CTD-2012M11.3,intron_variant,,ENST00000559410,;	273	32	85	SUCCESS
EXOC3	11336	.	GRCh37	5	457080	457080	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs779891627	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	137	114	0	ENST00000512944.1:c.1123G>A	p.Val375Met	p.V375M	ENST00000512944	NM_007277.4	375	Gtg/Atg	0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS54830.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGTGGTC	NONE	byFrequency	.	hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292,Pfam_domain:PF06046	.	.	ENSP00000425587	.	5/13	.	.	.	.	.	.	.	.	rs779891627	5/13	PASS	ENST00000512944	Transcript	.	.	ENSG00000180104	30378	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(0.2)	.	EXOC3_HUMAN	EXOC3	HGNC	Q69YP2_HUMAN,D6RBR9_HUMAN,B2RE06_HUMAN	.	UPI000004A021	SNV	EXOC3,missense_variant,p.Val375Met,ENST00000315013,;EXOC3,missense_variant,p.Val375Met,ENST00000512944,;EXOC3,missense_variant,p.Val245Met,ENST00000503889,;EXOC3,intron_variant,,ENST00000515601,;EXOC3,upstream_gene_variant,,ENST00000511015,;EXOC3,upstream_gene_variant,,ENST00000510028,;	1312	114	218	SUCCESS
ASCC3	10973	.	GRCh37	6	101073148	101073148	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756345826	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	40	144	0	ENST00000369162.2:c.4705C>T	p.Arg1569Cys	p.R1569C	ENST00000369162	NM_006828.2	1569	Cgt/Tgt	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS5046.1	4705	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACGAGTTT	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF8,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000358159	.	30/42	.	.	.	.	.	.	.	.	rs756345826	30/42	PASS	ENST00000369162	Transcript	.	.	ENSG00000112249	18697	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.032)	.	deleterious(0)	.	ASCC3_HUMAN	ASCC3	HGNC	E5RFZ0_HUMAN	.	UPI000014145A	SNV	ASCC3,missense_variant,p.Arg1569Cys,ENST00000369162,;	5050	144	137	SUCCESS
UNC93A	54346	.	GRCh37	6	167705003	167705003	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs374730365	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	28	69	0	ENST00000230256.3:c.26T>C	p.Leu9Pro	p.L9P	ENST00000230256	NM_018974.3	9	cTt/cCt	0	C:0	.	.	.	.	C	L/P	protein_coding	YES	CCDS5300.1	26	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTTGTGG	NONE	byFrequency|byCluster	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	C:0.0001	ENSP00000230256	.	1/8	.	.	.	.	.	.	.	.	rs374730365,COSM341989	1/8	PASS	ENST00000230256	Transcript	.	.	ENSG00000112494	12570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.982)	.	deleterious(0.02)	0,1	UN93A_HUMAN	UNC93A	HGNC	D6RFH7_HUMAN	.	UPI0000062351	SNV	UNC93A,missense_variant,p.Leu9Pro,ENST00000503433,;UNC93A,missense_variant,p.Leu9Pro,ENST00000366829,;UNC93A,missense_variant,p.Leu9Pro,ENST00000230256,;UNC93A,non_coding_transcript_exon_variant,,ENST00000366830,;UNC93A,upstream_gene_variant,,ENST00000504706,;	201	69	74	SUCCESS
HIST1H4G	0	.	GRCh37	6	26247104	26247104	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	32	72	0	ENST00000244537.4:c.102T>C	p.Thr34=	p.T34=	ENST00000244537	NM_003547.2	34	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS4599.1	102	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGATAGTGCA	NONE	.	.	hmmpanther:PTHR10484:SF20,hmmpanther:PTHR10484,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000244537	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244537	Transcript	.	.	ENSG00000124578	4792	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H4G_HUMAN	HIST1H4G	HGNC	.	.	UPI000006D7D1	SNV	HIST1H4G,synonymous_variant,p.%3D,ENST00000244537,;HIST1H3F,downstream_gene_variant,,ENST00000446824,;HIST1H2BH,upstream_gene_variant,,ENST00000356350,;	156	72	91	SUCCESS
MDC1	9656	.	GRCh37	6	30672226	30672226	+	synonymous_variant	Silent	SNP	A	A	G	rs1347170945	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	104	15	150	1	ENST00000376406.3:c.4734T>C	p.Leu1578=	p.L1578=	ENST00000376406	NM_014641.2	1578	ctT/ctC	0	.	.	.	.	.	G	L	protein_coding	YES	CCDS34384.1	4734	RADIA|MUSE	.	GGCTGAAGCTC	NONE	.	.	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	.	.	ENSP00000365588	.	10/15	.	.	.	.	.	.	.	.	.	10/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,synonymous_variant,p.%3D,ENST00000376406,;MDC1,synonymous_variant,p.%3D,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000492462,;MDC1,upstream_gene_variant,,ENST00000489540,;	5382	151	119	SUCCESS
ZNF318	24149	.	GRCh37	6	43316238	43316238	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	123	26	73	0	ENST00000361428.2:c.2896del	p.Ala966GlnfsTer27	p.A966Qfs*27	ENST00000361428	NM_014345.2	966	Gca/ca	0	.	.	.	.	.	-	A/X	protein_coding	YES	CCDS4895.2	2896	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTCTGCCTCTT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	.	.	ENSP00000354964	.	6/10	.	.	.	.	.	.	.	.	.	6/10	PASS	ENST00000361428	Transcript	.	.	ENSG00000171467	13578	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN318_HUMAN	ZNF318	HGNC	.	.	UPI000049E044	deletion	ZNF318,frameshift_variant,p.Ala966GlnfsTer27,ENST00000361428,;ZNF318,frameshift_variant,p.Ala966GlnfsTer27,ENST00000318149,;ZNF318,frameshift_variant,p.Ala966GlnfsTer27,ENST00000605935,;	2974	73	149	SUCCESS
RELN	5649	.	GRCh37	7	103251167	103251167	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	56	0	ENST00000428762.1:c.2983A>G	p.Ile995Val	p.I995V	ENST00000428762	NM_005045.3	995	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47680.1	2983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATGACTC	NONE	.	.	hmmpanther:PTHR11841,Gene3D:2.120.10.10	.	.	ENSP00000392423	.	22/65	.	.	.	.	.	.	.	.	.	22/65	PASS	ENST00000428762	Transcript	.	.	ENSG00000189056	9957	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.05)	.	RELN_HUMAN	RELN	HGNC	Q75MM8_HUMAN	.	UPI00001678BC	SNV	RELN,missense_variant,p.Ile995Val,ENST00000424685,;RELN,missense_variant,p.Ile995Val,ENST00000428762,;RELN,missense_variant,p.Ile995Val,ENST00000343529,;	3143	56	54	SUCCESS
PRSS1	5644	.	GRCh37	7	142460804	142460804	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	115	229	0	ENST00000311737.7:c.677C>T	p.Pro226Leu	p.P226L	ENST00000311737	NM_002769.4	226	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5872.1	677	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCCTGGAG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000308720	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311737	Transcript	.	.	ENSG00000204983	9475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	TRY1_HUMAN	PRSS1	HGNC	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN	.	UPI0000001309	SNV	PRSS1,missense_variant,p.Pro240Leu,ENST00000486171,;PRSS1,missense_variant,p.Pro226Leu,ENST00000311737,;PRSS1,3_prime_UTR_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	683	229	293	SUCCESS
REPIN1	29803	.	GRCh37	7	150068831	150068835	+	frameshift_variant	Frame_Shift_Del	DEL	CCACC	CCACC	-	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	CCACC	CCACC	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	63	0	ENST00000397281.2:c.502_506del	p.His168SerfsTer33	p.H168Sfs*33	ENST00000397281	NM_013400.3	167	tgCCACCct/tgct	0	.	.	.	.	.	-	CHP/CX	protein_coding	YES	CCDS47745.1	672-676	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGTGCCACCCTCCC	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24406:SF0,hmmpanther:PTHR24406,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000417291	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000489432	Transcript	.	.	ENSG00000214022	17922	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	REPIN1	HGNC	E7EVL6_HUMAN,C9J3L7_HUMAN	.	UPI0001596898	deletion	REPIN1,frameshift_variant,p.His228SerfsTer33,ENST00000488943,;REPIN1,frameshift_variant,p.His225SerfsTer33,ENST00000489432,;REPIN1,frameshift_variant,p.His168SerfsTer33,ENST00000425389,;REPIN1,frameshift_variant,p.His168SerfsTer33,ENST00000397281,;REPIN1,frameshift_variant,p.His168SerfsTer33,ENST00000540729,;REPIN1,frameshift_variant,p.His168SerfsTer33,ENST00000444957,;REPIN1,frameshift_variant,p.His227SerfsTer33,ENST00000475514,;REPIN1,3_prime_UTR_variant,,ENST00000482680,;REPIN1,3_prime_UTR_variant,,ENST00000466559,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,intron_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000473391,;	855-859	63	64	SUCCESS
INTS1	26173	.	GRCh37	7	1510839	1510839	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	31	112	0	ENST00000404767.3:c.6277A>G	p.Ser2093Gly	p.S2093G	ENST00000404767	NM_001080453.2	2093	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS47526.1	6277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGAGCTCATCA	NONE	.	.	hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224,Superfamily_domains:SSF48371	.	.	ENSP00000385722	.	46/48	.	.	.	.	.	.	.	.	.	46/48	PASS	ENST00000404767	Transcript	.	.	ENSG00000164880	24555	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.129)	.	tolerated(0.32)	.	INT1_HUMAN	INTS1	HGNC	.	.	UPI0000D7211C	SNV	INTS1,missense_variant,p.Ser2093Gly,ENST00000404767,;INTS1,missense_variant,p.Ser106Gly,ENST00000483196,;INTS1,missense_variant,p.Ser2297Gly,ENST00000389470,;RP11-1246C19.1,upstream_gene_variant,,ENST00000609755,;INTS1,non_coding_transcript_exon_variant,,ENST00000493446,;INTS1,non_coding_transcript_exon_variant,,ENST00000479671,;INTS1,downstream_gene_variant,,ENST00000482994,;	6363	112	121	SUCCESS
MACC1	346389	.	GRCh37	7	20199854	20199854	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	49	0	ENST00000332878.4:c.130G>T	p.Asp44Tyr	p.D44Y	ENST00000332878		44	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS5369.1	130	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCTGGGT	NONE	.	.	hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	.	.	ENSP00000383185	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000400331	Transcript	.	.	ENSG00000183742	30215	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.06)	.	MACC1_HUMAN	MACC1	HGNC	.	.	UPI00001B2F47	SNV	MACC1,missense_variant,p.Asp44Tyr,ENST00000589011,;MACC1,missense_variant,p.Asp44Tyr,ENST00000400331,;MACC1,missense_variant,p.Asp44Tyr,ENST00000332878,;MACC1,downstream_gene_variant,,ENST00000471019,;	439	49	47	SUCCESS
CCDC129	0	.	GRCh37	7	31618002	31618002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	50	80	0	ENST00000451887.2:c.1202T>C	p.Leu401Ser	p.L401S	ENST00000451887	NM_001257968.1	401	tTg/tCg	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS59050.1	1202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTTGTCTC	NONE	.	.	hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	.	.	ENSP00000395835	.	8/15	.	.	.	.	.	.	.	.	.	8/15	PASS	ENST00000451887	Transcript	.	.	ENSG00000180347	27363	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.938)	.	deleterious(0)	.	CC129_HUMAN	CCDC129	HGNC	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN	.	UPI00020655D9	SNV	CCDC129,missense_variant,p.Leu283Ser,ENST00000409210,;CCDC129,missense_variant,p.Leu401Ser,ENST00000451887,;CCDC129,missense_variant,p.Leu375Ser,ENST00000407970,;CCDC129,intron_variant,,ENST00000319386,;CCDC129,downstream_gene_variant,,ENST00000454513,;CCDC129,downstream_gene_variant,,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,downstream_gene_variant,,ENST00000482748,;	1214	80	125	SUCCESS
RPA3	6119	.	GRCh37	7	7712977	7712977	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	7	16	0	ENST00000223129.4:c.-758+12484G>A		p.*253*	ENST00000223129	NM_002947.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5356.1	.	MUTECT|MUSE	.	AGCAGCAGCAG	NONE	.	.	.	.	.	ENSP00000223129	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000223129	Transcript	.	.	ENSG00000106399	10291	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFA3_HUMAN	RPA3	HGNC	B5MC59_HUMAN,A4D105_HUMAN	.	UPI00001122E6	SNV	RPA3,intron_variant,,ENST00000223129,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000469183,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000482067,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000463725,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000493246,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000471760,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000468567,;	.	16	9	SUCCESS
HGF	3082	.	GRCh37	7	81335698	81335698	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs148098479	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	34	135	0	ENST00000222390.5:c.1662C>A	p.His554Gln	p.H554Q	ENST00000222390	NM_000601.4	554	caC/caA	0	.	A:0	.	A:0	.	T	H/Q	protein_coding	YES	CCDS5597.1	1662	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCGTGGAC	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50240,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF500183,SMART_domains:SM00020,PIRSF_domain:PIRSF001152,Superfamily_domains:SSF50494	A:0.004	.	ENSP00000222390	A:0	15/18	.	.	.	.	.	.	.	.	rs148098479	15/18	PASS	ENST00000222390	Transcript	.	A:0.0008	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.1)	A:0	tolerated(0.48)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.His549Gln,ENST00000457544,;HGF,missense_variant,p.His554Gln,ENST00000222390,;	1889	135	117	SUCCESS
FBXO43	286151	.	GRCh37	8	101153292	101153292	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	29	97	0	ENST00000428847.2:c.1190A>C	p.Glu397Ala	p.E397A	ENST00000428847	NM_001029860.3	397	gAa/gCa	0	.	.	.	.	.	G	E/A	protein_coding	YES	CCDS47904.1	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTCTGTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15493:SF1,hmmpanther:PTHR15493	.	.	ENSP00000403293	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000428847	Transcript	.	.	ENSG00000156509	28521	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	FBX43_HUMAN	FBXO43	HGNC	.	.	UPI000013DE8F	SNV	FBXO43,missense_variant,p.Glu397Ala,ENST00000428847,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,non_coding_transcript_exon_variant,,ENST00000520987,;	1507	97	98	SUCCESS
CSMD3	114788	.	GRCh37	8	113599446	113599446	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	39	107	0	ENST00000297405.5:c.3734C>G	p.Ala1245Gly	p.A1245G	ENST00000297405	NM_198123.1	1245	gCa/gGa	0	.	.	.	.	.	C	A/G	protein_coding	YES	CCDS6315.1	3734	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTTGCAGAT	NONE	.	.	PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	.	.	ENSP00000297405	.	23/71	.	.	.	.	.	.	.	.	.	23/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.142)	.	deleterious(0.05)	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,missense_variant,p.Ala1245Gly,ENST00000352409,;CSMD3,missense_variant,p.Ala1141Gly,ENST00000455883,;CSMD3,missense_variant,p.Ala1245Gly,ENST00000297405,;CSMD3,missense_variant,p.Ala585Gly,ENST00000339701,;CSMD3,missense_variant,p.Ala1205Gly,ENST00000343508,;	3979	107	99	SUCCESS
TNFRSF10B	8795	.	GRCh37	8	22884792	22884792	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs138183043	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	60	0	ENST00000276431.4:c.790C>T	p.Arg264Ter	p.R264*	ENST00000276431	NM_147187.2	264	Cga/Tga	0	A:0	.	.	.	.	A	R/*	protein_coding	YES	CCDS6035.1	790	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCGTTGTG	NONE	byCluster	.	hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF88,PIRSF_domain:PIRSF037867	.	A:0.0001	ENSP00000276431	.	7/9	.	.	.	.	.	.	.	.	rs138183043	7/9	PASS	ENST00000276431	Transcript	1	.	ENSG00000120889	11905	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TR10B_HUMAN	TNFRSF10B	HGNC	Q9BY82_HUMAN,B7Z3M7_HUMAN	.	UPI000013DAC6	SNV	TNFRSF10B,stop_gained,p.Arg235Ter,ENST00000347739,;TNFRSF10B,stop_gained,p.Arg264Ter,ENST00000276431,;TNFRSF10B,stop_gained,p.Arg84Ter,ENST00000542226,;TNFRSF10B,downstream_gene_variant,,ENST00000519910,;TNFRSF10B,3_prime_UTR_variant,,ENST00000523504,;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000520109,;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000523752,;TNFRSF10B,downstream_gene_variant,,ENST00000518531,;	1075	60	54	SUCCESS
ZNF462	58499	.	GRCh37	9	109691665	109691665	+	synonymous_variant	Silent	SNP	G	G	A	rs143553958	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	85	0	ENST00000277225.5:c.5472G>A	p.Glu1824=	p.E1824=	ENST00000277225		1824	gaG/gaA	0	A:0.0002	.	.	.	.	A	E	protein_coding	YES	CCDS35096.1	5472	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGAGGAGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385	.	A:0.0001	ENSP00000277225	.	3/13	.	.	.	.	.	.	.	.	rs143553958	3/13	PASS	ENST00000277225	Transcript	.	.	ENSG00000148143	21684	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN462_HUMAN	ZNF462	HGNC	U3KQ68_HUMAN,F5H0Z0_HUMAN	.	UPI0000470106	SNV	ZNF462,synonymous_variant,p.%3D,ENST00000277225,;ZNF462,synonymous_variant,p.%3D,ENST00000457913,;ZNF462,synonymous_variant,p.%3D,ENST00000441147,;ZNF462,synonymous_variant,p.%3D,ENST00000374686,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000542028,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;	5761	85	32	SUCCESS
TIAL1	7073	.	GRCh37	10	121339462	121339462	+	synonymous_variant	Silent	SNP	A	A	C	rs1385869737	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	37	135	0	ENST00000436547.2:c.432T>G	p.Ser144=	p.S144=	ENST00000436547	NM_003252.3	144	tcT/tcG	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS31295.1	483	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAAGATAC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF250,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000358089	.	6/12	.	.	.	.	.	.	.	.	.	6/12	PASS	ENST00000369093	Transcript	.	.	ENSG00000151923	11804	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIAR_HUMAN	TIAL1	HGNC	.	.	UPI00004BEBE5	SNV	TIAL1,synonymous_variant,p.%3D,ENST00000412524,;TIAL1,synonymous_variant,p.%3D,ENST00000436547,;TIAL1,synonymous_variant,p.%3D,ENST00000369093,;TIAL1,synonymous_variant,p.%3D,ENST00000369092,;TIAL1,downstream_gene_variant,,ENST00000369086,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470635,;TIAL1,upstream_gene_variant,,ENST00000463089,;TIAL1,upstream_gene_variant,,ENST00000495821,;TIAL1,downstream_gene_variant,,ENST00000462373,;TIAL1,3_prime_UTR_variant,,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,non_coding_transcript_exon_variant,,ENST00000369087,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;	513	135	120	SUCCESS
RET	5979	.	GRCh37	10	43609005	43609005	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs1291641320	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	16	21	0	ENST00000355710.3:c.1761G>A		p.X587_splice	ENST00000355710	NM_020975.4	587	cgG/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS7200.1	1761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGGGCAG	NONE	.	.	PIRSF_domain:PIRSF000631,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416	.	.	ENSP00000347942	.	10/20	.	.	.	.	.	.	.	.	.	10/20	PASS	ENST00000355710	Transcript	1	.	ENSG00000165731	9967	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET_HUMAN	RET	HGNC	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	.	UPI00001336E1	SNV	RET,synonymous_variant,p.%3D,ENST00000498820,;RET,synonymous_variant,p.%3D,ENST00000340058,;RET,synonymous_variant,p.%3D,ENST00000355710,;	1993	21	31	SUCCESS
SIK2	23235	.	GRCh37	11	111592590	111592590	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	46	0	ENST00000304987.3:c.1981C>T	p.Leu661Phe	p.L661F	ENST00000304987	NM_015191.1	661	Ctc/Ttc	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS8347.1	1981	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTCTCCCT	NONE	.	.	hmmpanther:PTHR24343:SF145,hmmpanther:PTHR24343,PIRSF_domain:PIRSF037014	.	.	ENSP00000305976	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	SNV	SIK2,missense_variant,p.Leu661Phe,ENST00000304987,;SIK2,downstream_gene_variant,,ENST00000533868,;	2154	46	41	SUCCESS
HMBS	3145	.	GRCh37	11	118963733	118963733	+	splice_donor_variant	Splice_Site	SNP	T	T	C	.	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	57	135	0	ENST00000278715.3:c.912+2T>C		p.X304_splice	ENST00000278715	NM_000190.3	304		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8409.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGTACCAA	NONE	.	.	.	.	.	ENSP00000278715	.	.	.	.	.	.	.	.	.	.	CS104064	.	PASS	ENST00000278715	Transcript	.	.	ENSG00000256269	4982	.	.	HIGH	13/13	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	.	HEM3_HUMAN	HMBS	HGNC	Q68Y91_HUMAN,Q0G847_HUMAN,F5GY90_HUMAN,B5U9V4_HUMAN	.	UPI000012C47A	SNV	HMBS,splice_donor_variant,,ENST00000392841,;HMBS,splice_donor_variant,,ENST00000542729,;HMBS,splice_donor_variant,,ENST00000442944,;HMBS,splice_donor_variant,,ENST00000543090,;HMBS,splice_donor_variant,,ENST00000278715,;HMBS,splice_donor_variant,,ENST00000544387,;HMBS,splice_donor_variant,,ENST00000537841,;H2AFX,downstream_gene_variant,,ENST00000530167,;HMBS,downstream_gene_variant,,ENST00000546302,;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000536813,;HMBS,downstream_gene_variant,,ENST00000535253,;DPAGT1,downstream_gene_variant,,ENST00000409993,;DPAGT1,downstream_gene_variant,,ENST00000354202,;DPAGT1,downstream_gene_variant,,ENST00000432443,;HMBS,downstream_gene_variant,,ENST00000536185,;HMBS,downstream_gene_variant,,ENST00000534956,;HMBS,splice_donor_variant,,ENST00000543543,;HMBS,splice_donor_variant,,ENST00000539045,;HMBS,splice_donor_variant,,ENST00000542044,;HMBS,splice_donor_variant,,ENST00000546226,;HMBS,splice_donor_variant,,ENST00000544182,;HMBS,downstream_gene_variant,,ENST00000535793,;HMBS,downstream_gene_variant,,ENST00000542345,;DPAGT1,downstream_gene_variant,,ENST00000525456,;HMBS,downstream_gene_variant,,ENST00000543821,;DPAGT1,downstream_gene_variant,,ENST00000442480,;HMBS,downstream_gene_variant,,ENST00000544360,;DPAGT1,downstream_gene_variant,,ENST00000530052,;HMBS,downstream_gene_variant,,ENST00000545901,;DPAGT1,downstream_gene_variant,,ENST00000392834,;DPAGT1,downstream_gene_variant,,ENST00000524658,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000461999,;HMBS,downstream_gene_variant,,ENST00000542822,;H2AFX,downstream_gene_variant,,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000414373,;HMBS,downstream_gene_variant,,ENST00000545621,;	.	135	123	SUCCESS
MICAL2	9645	.	GRCh37	11	12281400	12281400	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	67	234	0	ENST00000256194.4:c.3290C>G	p.Ser1097Cys	p.S1097C	ENST00000256194	NM_014632.2	1097	tCt/tGt	0	.	.	.	.	.	G	S/C	protein_coding	YES	CCDS7809.1	3290	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTCTTGCG	NONE	.	.	.	.	.	ENSP00000256194	.	26/28	.	.	.	.	.	.	.	.	COSM3808619,COSM3808620	26/28	PASS	ENST00000256194	Transcript	.	.	ENSG00000133816	24693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.765)	.	deleterious_low_confidence(0)	1,1	MICA2_HUMAN	MICAL2	HGNC	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN	.	UPI000000DA92	SNV	MICAL2,missense_variant,p.Ser871Cys,ENST00000379612,;MICAL2,missense_variant,p.Ser1097Cys,ENST00000256194,;MICAL2,missense_variant,p.Ser907Cys,ENST00000527546,;MICAL2,missense_variant,p.Ser1076Cys,ENST00000342902,;MICAL2,missense_variant,p.Ser907Cys,ENST00000537344,;RP11-265D17.2,downstream_gene_variant,,ENST00000527288,;MICAL2,non_coding_transcript_exon_variant,,ENST00000534563,;MICAL2,non_coding_transcript_exon_variant,,ENST00000526604,;MICAL2,downstream_gene_variant,,ENST00000526672,;MICAL2,downstream_gene_variant,,ENST00000525979,;MICAL2,non_coding_transcript_exon_variant,,ENST00000525444,;MICAL2,non_coding_transcript_exon_variant,,ENST00000528931,;MICAL2,non_coding_transcript_exon_variant,,ENST00000530691,;MICAL2,non_coding_transcript_exon_variant,,ENST00000525618,;MICAL2,non_coding_transcript_exon_variant,,ENST00000530021,;MICAL2,downstream_gene_variant,,ENST00000525075,;	3578	234	199	SUCCESS
SIGIRR	59307	.	GRCh37	11	406869	406869	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	50	0	ENST00000332725.3:c.853T>A	p.Leu285Met	p.L285M	ENST00000332725	NM_001135053.1	285	Ttg/Atg	0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS31325.1	853	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCAAGGTCA	NONE	.	.	Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR11890:SF2,hmmpanther:PTHR11890,PROSITE_profiles:PS50104	.	.	ENSP00000403104	.	8/10	.	.	.	.	.	.	.	.	.	8/10	PASS	ENST00000431843	Transcript	.	.	ENSG00000185187	30575	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.877)	.	deleterious(0.03)	.	SIGIR_HUMAN	SIGIRR	HGNC	.	.	UPI000049DD22	SNV	SIGIRR,missense_variant,p.Leu285Met,ENST00000382520,;SIGIRR,missense_variant,p.Leu181Met,ENST00000528209,;SIGIRR,missense_variant,p.Leu285Met,ENST00000531205,;SIGIRR,missense_variant,p.Leu285Met,ENST00000397632,;SIGIRR,missense_variant,p.Leu285Met,ENST00000431843,;SIGIRR,missense_variant,p.Leu285Met,ENST00000332725,;SIGIRR,intron_variant,,ENST00000526395,;SIGIRR,downstream_gene_variant,,ENST00000528058,;PKP3,downstream_gene_variant,,ENST00000525642,;PKP3,downstream_gene_variant,,ENST00000331563,;SIGIRR,upstream_gene_variant,,ENST00000528845,;SIGIRR,downstream_gene_variant,,ENST00000530494,;SIGIRR,downstream_gene_variant,,ENST00000530683,;SIGIRR,downstream_gene_variant,,ENST00000527136,;SIGIRR,downstream_gene_variant,,ENST00000528116,;SIGIRR,downstream_gene_variant,,ENST00000529486,;SIGIRR,downstream_gene_variant,,ENST00000525299,;SIGIRR,downstream_gene_variant,,ENST00000534217,;SIGIRR,downstream_gene_variant,,ENST00000528698,;SIGIRR,downstream_gene_variant,,ENST00000526788,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000527987,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000527295,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000534145,;SIGIRR,downstream_gene_variant,,ENST00000528536,;SIGIRR,downstream_gene_variant,,ENST00000525070,;	1160	50	50	SUCCESS
CLSTN3	9746	.	GRCh37	12	7293899	7293899	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	59	160	0	ENST00000266546.6:c.1385A>G	p.Tyr462Cys	p.Y462C	ENST00000266546	NM_014718.3	462	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS8575.1	1385	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTATACCG	NONE	.	.	hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Gene3D:2.60.120.200,Pfam_domain:PF13385,Superfamily_domains:SSF49899	.	.	ENSP00000266546	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000266546	Transcript	.	.	ENSG00000139182	18371	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0)	.	CSTN3_HUMAN	CLSTN3	HGNC	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN	.	UPI0000049E7C	SNV	CLSTN3,missense_variant,p.Tyr474Cys,ENST00000537408,;CLSTN3,missense_variant,p.Tyr462Cys,ENST00000266546,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000544584,;CLSTN3,downstream_gene_variant,,ENST00000541667,;CLSTN3,downstream_gene_variant,,ENST00000535668,;CLSTN3,downstream_gene_variant,,ENST00000540931,;CLSTN3,upstream_gene_variant,,ENST00000541770,;	1835	160	143	SUCCESS
TRPC4	7223	.	GRCh37	13	38211276	38211276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	41	95	0	ENST00000379705.3:c.2698C>A	p.Pro900Thr	p.P900T	ENST00000379705		900	Ccc/Acc	0	.	.	.	.	.	T	P/T	protein_coding	YES	CCDS45037.1	2713	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGGGAATGC	NONE	.	.	hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Prints_domain:PR01645	.	.	ENSP00000369003	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000379681	Transcript	.	.	ENSG00000133107	12336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.047)	.	tolerated_low_confidence(0.55)	.	TRPC4_HUMAN	TRPC4	HGNC	.	.	UPI000006E5BE	SNV	TRPC4,missense_variant,p.Pro751Thr,ENST00000379673,;TRPC4,missense_variant,p.Pro727Thr,ENST00000338947,;TRPC4,missense_variant,p.Pro905Thr,ENST00000379681,;TRPC4,missense_variant,p.Pro759Thr,ENST00000447043,;TRPC4,missense_variant,p.Pro727Thr,ENST00000379679,;TRPC4,missense_variant,p.Pro759Thr,ENST00000355779,;TRPC4,missense_variant,p.Pro816Thr,ENST00000358477,;TRPC4,missense_variant,p.Pro900Thr,ENST00000379705,;TRPC4,3_prime_UTR_variant,,ENST00000426868,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	2948	95	89	SUCCESS
RNASE4	6038	.	GRCh37	14	21167519	21167519	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	18	0	ENST00000397995.2:c.-12T>G		p.*4*	ENST00000397995		31		0	.	.	.	.	.	G	L/R	protein_coding	YES	.	92	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACCTCTAAG	NONE	.	.	.	.	.	ENSP00000477037	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000553909	Transcript	.	.	ENSG00000259171	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.05)	.	.	AL163636.6	Clone_based_vega_gene	.	.	UPI0003B928F8	SNV	AL163636.6,missense_variant,p.Leu31Arg,ENST00000553909,;RNASE4,5_prime_UTR_variant,,ENST00000304704,;RNASE4,5_prime_UTR_variant,,ENST00000555597,;RNASE4,5_prime_UTR_variant,,ENST00000397995,;RNASE4,5_prime_UTR_variant,,ENST00000555835,;RP11-903H12.3,non_coding_transcript_exon_variant,,ENST00000554286,;ANG,downstream_gene_variant,,ENST00000554073,;	282	18	21	SUCCESS
HERC2	8924	.	GRCh37	15	28419720	28419734	+	frameshift_variant	Frame_Shift_Del	DEL	GTGCCATTGCCCTGC	GTGCCATTGCCCTGC	CTGG	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	GTGCCATTGCCCTGC	GTGCCATTGCCCTGC	.	.	.	.	.	.	.	.	.	.	.	.	.	262	63	406	0	ENST00000261609.7:c.9864_9878delinsCCAG	p.Gln3288HisfsTer6	p.Q3288Hfs*6	ENST00000261609	NM_004667.5	3288	caGCAGGGCAATGGCACg/caCCAGg	0	.	.	.	.	.	CTGG	QQGNGT/HQX	protein_coding	YES	CCDS10021.1	9864-9878	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGTCGTGCCATTGCCCTGCTGGCC	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985,Prints_domain:PR00633	.	.	ENSP00000261609	.	65/93	.	.	.	.	.	.	.	.	.	65/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	substitution	HERC2,frameshift_variant,p.Gln3288HisfsTer6,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	9973-9987	406	325	SUCCESS
HERC2	8924	.	GRCh37	15	28419734	28419734	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	200	80	295	0	ENST00000261609.7:c.9864G>C	p.Gln3288His	p.Q3288H	ENST00000261609	NM_004667.5	3288	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS10021.1	9864	SOMATICSNIPER|VARSCANS	.	CCCTGCTGGCC	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985,Prints_domain:PR00633	.	.	ENSP00000261609	.	65/93	.	.	.	.	.	.	.	.	.	65/93	PASS	ENST00000261609	Transcript	1	.	ENSG00000128731	4868	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	.	.	HERC2_HUMAN	HERC2	HGNC	.	.	UPI00004578F7	SNV	HERC2,missense_variant,p.Gln3288His,ENST00000261609,;HERC2,upstream_gene_variant,,ENST00000569772,;	9973	296	280	SUCCESS
ACTC1	70	.	GRCh37	15	35084698	35084698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	17	160	0	ENST00000290378.4:c.527C>A	p.Ala176Asp	p.A176D	ENST00000290378	NM_005159.4	176	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS10041.1	527	RADIA|MUTECT|MUSE|VARSCANS	.	TGATGGCATGG	NONE	.	.	hmmpanther:PTHR11937:SF176,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	.	.	ENSP00000290378	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000290378	Transcript	1	.	ENSG00000159251	143	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0.01)	.	ACTC_HUMAN	ACTC1	HGNC	B3KPP5_HUMAN	.	UPI0000003F15	SNV	ACTC1,missense_variant,p.Ala176Asp,ENST00000290378,;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,non_coding_transcript_exon_variant,,ENST00000557860,;ACTC1,non_coding_transcript_exon_variant,,ENST00000560563,;	1183	160	161	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45694823	45694823	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	52	0	ENST00000305560.6:c.196G>C	p.Asp66His	p.D66H	ENST00000305560	NM_024063.2	66	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS10123.1	196	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGACGGA	NONE	.	.	hmmpanther:PTHR23077:SF53,hmmpanther:PTHR23077	.	.	ENSP00000305494	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.826)	.	deleterious(0)	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	SPATA5L1,missense_variant,p.Asp66His,ENST00000305560,;SPATA5L1,missense_variant,p.Asp66His,ENST00000559860,;GATM,upstream_gene_variant,,ENST00000561148,;GATM,upstream_gene_variant,,ENST00000458245,;SPATA5L1,missense_variant,p.Asp66His,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000525552,;	295	52	57	SUCCESS
TLN2	83660	.	GRCh37	15	63069030	63069030	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1344287500	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	70	0	ENST00000306829.6:c.5435T>C	p.Met1812Thr	p.M1812T	ENST00000306829	NM_015059.2	1812	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS32261.1	5435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCATGGTGA	NONE	.	.	Superfamily_domains:SSF47220,Gene3D:1.20.1440.10,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15	.	.	ENSP00000453508	.	42/58	.	.	.	.	.	.	.	.	.	42/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.84)	.	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Met726Thr,ENST00000494733,;TLN2,missense_variant,p.Met1812Thr,ENST00000561311,;TLN2,missense_variant,p.Met205Thr,ENST00000472902,;TLN2,missense_variant,p.Met1812Thr,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;	5665	70	77	SUCCESS
HCN4	10021	.	GRCh37	15	73660429	73660429	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	182	150	290	0	ENST00000261917.3:c.183C>T	p.Ala61=	p.A61=	ENST00000261917	NM_005477.2	61	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10248.1	183	RADIA|SOMATICSNIPER|VARSCANS	.	CCCGCGGCCGC	NONE	.	.	hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375	.	.	ENSP00000261917	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000261917	Transcript	1	.	ENSG00000138622	16882	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HCN4_HUMAN	HCN4	HGNC	.	.	UPI000003FFB5	SNV	HCN4,synonymous_variant,p.%3D,ENST00000261917,;	1177	290	332	SUCCESS
XYLT1	64131	.	GRCh37	16	17235129	17235129	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	85	0	ENST00000261381.6:c.1468G>A	p.Asp490Asn	p.D490N	ENST00000261381	NM_022166.3	490	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS10569.1	1468	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCATCCACGG	NONE	.	.	Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91	.	.	ENSP00000261381	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000261381	Transcript	.	.	ENSG00000103489	15516	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.07)	.	XYLT1_HUMAN	XYLT1	HGNC	.	.	UPI000000DCCE	SNV	XYLT1,missense_variant,p.Asp490Asn,ENST00000261381,;CTD-2576D5.4,downstream_gene_variant,,ENST00000567344,;	1553	85	76	SUCCESS
DDC8	0	.	GRCh37	17	76887957	76887957	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs756676057	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	34	90	0	ENST00000322630.2:c.629C>T	p.Thr210Met	p.T210M	ENST00000322630	NM_001243540.1	210	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS58603.1	629	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCCGTGGCT	NONE	.	.	hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2	.	.	ENSP00000312767	.	3/3	.	.	.	.	.	.	.	.	rs756676057	3/3	PASS	ENST00000322630	Transcript	.	.	ENSG00000178404	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated(0.13)	.	DDC8_HUMAN	DDC8	Uniprot_gn	.	.	UPI0000071A46	SNV	DDC8,missense_variant,p.Thr210Met,ENST00000322630,;TIMP2,intron_variant,,ENST00000536189,;DDC8,intron_variant,,ENST00000586713,;TIMP2,intron_variant,,ENST00000262768,;DDC8,downstream_gene_variant,,ENST00000590267,;DDC8,downstream_gene_variant,,ENST00000587052,;	795	90	119	SUCCESS
MIB1	57534	.	GRCh37	18	19429164	19429164	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	70	1	ENST00000261537.6:c.2401G>T	p.Val801Leu	p.V801L	ENST00000261537	NM_020774.3	801	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS11871.1	2401	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAAGTGGGT	NONE	.	.	hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52	.	.	ENSP00000261537	.	17/21	.	.	.	.	.	.	.	.	.	17/21	PASS	ENST00000261537	Transcript	.	.	ENSG00000101752	21086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.44)	.	MIB1_HUMAN	MIB1	HGNC	B3KRA8_HUMAN	.	UPI000000D833	SNV	MIB1,missense_variant,p.Val801Leu,ENST00000261537,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;	2665	71	62	SUCCESS
COLEC12	81035	.	GRCh37	18	334824	334824	+	synonymous_variant	Silent	SNP	G	G	T	rs762468517	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	57	0	ENST00000400256.3:c.1734C>A	p.Gly578=	p.G578=	ENST00000400256	NM_130386.2	578	ggC/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS32782.1	1734	RADIA|MUTECT|MUSE	.	GGGGGGCCCTT	NONE	byFrequency	.	Pfam_domain:PF01391,hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19,Low_complexity_(Seg):seg	.	.	ENSP00000383115	.	6/10	.	.	.	.	.	.	.	.	rs762468517	6/10	PASS	ENST00000400256	Transcript	.	.	ENSG00000158270	16016	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COL12_HUMAN	COLEC12	HGNC	.	.	UPI00002018EC	SNV	COLEC12,synonymous_variant,p.%3D,ENST00000400256,;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	1942	57	56	SUCCESS
TSHZ3	57616	.	GRCh37	19	31770531	31770531	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	46	0	ENST00000240587.4:c.168C>G	p.Cys56Trp	p.C56W	ENST00000240587	NM_020856.2	56	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS12421.2	168	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGCAGGC	NONE	.	.	hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.506)	.	tolerated(0.19)	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,missense_variant,p.Cys56Trp,ENST00000240587,;TSHZ3,3_prime_UTR_variant,,ENST00000560707,;	496	46	38	SUCCESS
ZNF382	84911	.	GRCh37	19	37117613	37117613	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs764236830	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	40	89	0	ENST00000292928.2:c.814A>G	p.Lys272Glu	p.K272E	ENST00000292928	NM_032825.4	272	Aaa/Gaa	0	.	.	.	.	.	G	K/E	protein_coding	YES	CCDS33004.1	814	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACAAATAT	NONE	byCluster	.	hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF22,Superfamily_domains:SSF57667	.	.	ENSP00000292928	.	5/5	.	.	.	.	.	.	.	.	rs764236830	5/5	PASS	ENST00000292928	Transcript	.	.	ENSG00000161298	17409	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	tolerated(1)	.	ZN382_HUMAN	ZNF382	HGNC	K7EK67_HUMAN,C9JME7_HUMAN	.	UPI000013E0E2	SNV	ZNF382,missense_variant,p.Lys271Glu,ENST00000435416,;ZNF382,missense_variant,p.Lys272Glu,ENST00000292928,;ZNF382,missense_variant,p.Lys271Glu,ENST00000439428,;ZNF382,missense_variant,p.Lys223Glu,ENST00000423582,;ZNF382,downstream_gene_variant,,ENST00000590785,;CTD-3234P18.2,upstream_gene_variant,,ENST00000585467,;	927	89	99	SUCCESS
ZNF569	148266	.	GRCh37	19	37904717	37904717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	52	0	ENST00000316950.6:c.843G>T	p.Gln281His	p.Q281H	ENST00000316950	NM_152484.2	281	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS12503.1	843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTTCTGGCT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF68,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000325018	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000316950	Transcript	.	.	ENSG00000196437	24737	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	tolerated(0.38)	.	ZN569_HUMAN	ZNF569	HGNC	Q17RR6_HUMAN	.	UPI0000202203	SNV	ZNF569,missense_variant,p.Gln281His,ENST00000316950,;ZNF569,missense_variant,p.Gln281His,ENST00000392149,;ZNF569,missense_variant,p.Gln122His,ENST00000392150,;ZNF569,downstream_gene_variant,,ENST00000592490,;ZNF569,downstream_gene_variant,,ENST00000448051,;	1401	52	58	SUCCESS
FBXO17	115290	.	GRCh37	19	39437164	39437164	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs546215787	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	57	146	0	ENST00000292852.4:c.505G>C	p.Val169Leu	p.V169L	ENST00000292852	NM_024907.6	169	Gtg/Ctg	0	.	A:0	.	A:0.0014	.	G	V/L	protein_coding	YES	.	220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACACCCCTT	NONE	by1000G	.	PROSITE_profiles:PS51114,Gene3D:2.60.120.260,Pfam_domain:PF04300,Superfamily_domains:SSF49785	A:0	.	ENSP00000472465	A:0	3/20	.	.	.	.	.	.	.	.	rs546215787	3/20	PASS	ENST00000599996	Transcript	.	A:0.0002	ENSG00000269547	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	A:0	tolerated_low_confidence(0.74)	.	.	CTC-360G5.8	Clone_based_vega_gene	M0R259_HUMAN,E7EX87_HUMAN	.	UPI0002A47101	SNV	SARS2,missense_variant,p.Val4Leu,ENST00000448145,;CTC-360G5.8,missense_variant,p.Val74Leu,ENST00000599996,;FBXO17,missense_variant,p.Val169Leu,ENST00000292852,;FBXO17,missense_variant,p.Val28Leu,ENST00000599598,;FBXO17,missense_variant,p.Val169Leu,ENST00000595329,;FBXO17,3_prime_UTR_variant,,ENST00000601394,;FBXO17,3_prime_UTR_variant,,ENST00000596025,;FBXO17,non_coding_transcript_exon_variant,,ENST00000597696,;FBXO17,non_coding_transcript_exon_variant,,ENST00000599418,;	218	146	130	SUCCESS
ZNF223	7766	.	GRCh37	19	44570689	44570689	+	synonymous_variant	Silent	SNP	A	A	G	rs1177275215	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	43	100	0	ENST00000434772.3:c.708A>G	p.Gln236=	p.Q236=	ENST00000434772	NM_013361.4	236	caA/caG	0	.	.	.	.	.	G	Q	protein_coding	YES	CCDS12635.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACAATGTGG	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF29,PROSITE_profiles:PS50157	.	.	ENSP00000401947	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434772	Transcript	.	.	ENSG00000178386	13016	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN223_HUMAN	ZNF223	HGNC	K7EQ32_HUMAN	.	UPI00002025B5	SNV	ZNF223,synonymous_variant,p.%3D,ENST00000434772,;ZNF223,synonymous_variant,p.%3D,ENST00000591850,;ZNF223,synonymous_variant,p.%3D,ENST00000591793,;ZNF223,downstream_gene_variant,,ENST00000593088,;	963	100	90	SUCCESS
ZNF227	7770	.	GRCh37	19	44739935	44739935	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	96	0	ENST00000313040.7:c.1352T>G	p.Leu451Ter	p.L451*	ENST00000313040	NM_182490.1	451	tTa/tGa	0	.	.	.	.	.	G	L/*	protein_coding	YES	CCDS12636.1	1352	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATTAATAT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000321049	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000313040	Transcript	.	.	ENSG00000131115	13020	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN227_HUMAN	ZNF227	HGNC	Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN	.	UPI000000DC17	SNV	ZNF227,stop_gained,p.Leu400Ter,ENST00000589005,;ZNF227,stop_gained,p.Leu451Ter,ENST00000313040,;ZNF227,stop_gained,p.Leu400Ter,ENST00000391961,;ZNF227,downstream_gene_variant,,ENST00000588394,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;	1557	96	66	SUCCESS
HAS1	3036	.	GRCh37	19	52222514	52222514	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs771909540	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	53	0	ENST00000222115.1:c.647G>A	p.Arg216His	p.R216H	ENST00000222115	NM_001523.2	216	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12838.1	647	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGCGCTTG	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4,Gene3D:3.90.550.10,Pfam_domain:PF13641,Superfamily_domains:SSF53448	.	.	ENSP00000222115	.	2/5	.	.	.	.	.	.	.	.	rs771909540	2/5	PASS	ENST00000222115	Transcript	.	.	ENSG00000105509	4818	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,missense_variant,p.Arg215His,ENST00000540069,;HAS1,missense_variant,p.Arg70His,ENST00000594621,;HAS1,missense_variant,p.Arg216His,ENST00000222115,;HAS1,missense_variant,p.Arg223His,ENST00000601714,;HAS1,missense_variant,p.Arg2His,ENST00000601667,;	682	53	61	SUCCESS
ZNF813	126017	.	GRCh37	19	53995222	53995222	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	57	164	0	ENST00000396403.4:c.1736A>T	p.Tyr579Phe	p.Y579F	ENST00000396403	NM_001004301.3	579	tAc/tTc	0	.	.	.	.	.	T	Y/F	protein_coding	YES	CCDS46172.1	1736	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTACAAGT	NONE	.	.	PROSITE_profiles:PS50157,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000379684	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396403	Transcript	.	.	ENSG00000198346	33257	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.169)	.	tolerated(0.09)	.	ZN813_HUMAN	ZNF813	HGNC	C9JZ01_HUMAN	.	UPI000040C511	SNV	ZNF813,missense_variant,p.Tyr579Phe,ENST00000396403,;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	1864	164	136	SUCCESS
STXBP2	6813	.	GRCh37	19	7709578	7709584	+	frameshift_variant	Frame_Shift_Del	DEL	GCGGCGG	GCGGCGG	-	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	GCGGCGG	GCGGCGG	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	45	0	ENST00000221283.5:c.1186_1192del	p.Ala396CysfsTer20	p.A396Cfs*20	ENST00000221283	NM_006949.3	396	GCGGCGGtg/tg	0	.	.	.	.	.	-	AAV/X	protein_coding	YES	CCDS12181.1	1186-1192	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGGACGCGGCGGTGCCC	NONE	.	.	hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF27,Gene3D:1.25.40.60,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	.	.	ENSP00000221283	.	14/19	.	.	.	.	.	.	.	.	.	14/19	PASS	ENST00000221283	Transcript	1	.	ENSG00000076944	11445	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STXB2_HUMAN	STXBP2	HGNC	R4GMY7_HUMAN,M0QZ54_HUMAN	.	UPI000013C7B8	deletion	STXBP2,frameshift_variant,p.Ala407CysfsTer20,ENST00000441779,;STXBP2,frameshift_variant,p.Ala91CysfsTer20,ENST00000600702,;STXBP2,frameshift_variant,p.Ala393CysfsTer20,ENST00000414284,;STXBP2,frameshift_variant,p.Ala396CysfsTer20,ENST00000221283,;STXBP2,downstream_gene_variant,,ENST00000593535,;STXBP2,upstream_gene_variant,,ENST00000602355,;STXBP2,downstream_gene_variant,,ENST00000595950,;STXBP2,frameshift_variant,p.Ala38CysfsTer20,ENST00000599400,;STXBP2,frameshift_variant,p.Ala369CysfsTer40,ENST00000597068,;STXBP2,3_prime_UTR_variant,,ENST00000599737,;STXBP2,non_coding_transcript_exon_variant,,ENST00000593854,;STXBP2,non_coding_transcript_exon_variant,,ENST00000599558,;STXBP2,non_coding_transcript_exon_variant,,ENST00000595800,;STXBP2,downstream_gene_variant,,ENST00000595861,;STXBP2,downstream_gene_variant,,ENST00000595181,;STXBP2,downstream_gene_variant,,ENST00000594221,;CTD-3214H19.4,downstream_gene_variant,,ENST00000598664,;STXBP2,upstream_gene_variant,,ENST00000601061,;STXBP2,downstream_gene_variant,,ENST00000599648,;CTD-3214H19.4,downstream_gene_variant,,ENST00000599243,;CTD-3214H19.4,downstream_gene_variant,,ENST00000595866,;STXBP2,upstream_gene_variant,,ENST00000599278,;	1217-1223	45	41	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150131451	150131451	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	271	15	253	0	ENST00000369124.4:c.963G>A	p.Glu321=	p.E321=	ENST00000369124	NM_016274.4	321	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS945.1	963	MUTECT|MUSE	.	CAGGAGCTTCT	NONE	.	.	hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871	.	.	ENSP00000358120	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,synonymous_variant,p.%3D,ENST00000441340,;PLEKHO1,synonymous_variant,p.%3D,ENST00000369126,;PLEKHO1,synonymous_variant,p.%3D,ENST00000025469,;PLEKHO1,synonymous_variant,p.%3D,ENST00000369124,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;PLEKHO1,downstream_gene_variant,,ENST00000479194,;PLEKHO1,upstream_gene_variant,,ENST00000502767,;PLEKHO1,downstream_gene_variant,,ENST00000485470,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	1241	253	286	SUCCESS
CCDC19	0	.	GRCh37	1	159847189	159847189	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs779458678	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	30	129	0	ENST00000368099.4:c.1108G>A	p.Ala370Thr	p.A370T	ENST00000368099	NM_012337.2	370	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS30914.1	1108	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGCGATCT	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15504,Pfam_domain:PF13868	.	.	ENSP00000357079	.	9/12	.	.	.	.	.	.	.	.	rs779458678	9/12	PASS	ENST00000368099	Transcript	.	.	ENSG00000213085	17229	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.05)	.	tolerated(0.12)	.	CCD19_HUMAN	CCDC19	HGNC	Q05BA3_HUMAN	.	UPI000006F653	SNV	CCDC19,missense_variant,p.Ala285Thr,ENST00000426543,;CCDC19,missense_variant,p.Ala370Thr,ENST00000368099,;CCDC19,non_coding_transcript_exon_variant,,ENST00000476696,;CCDC19,non_coding_transcript_exon_variant,,ENST00000475911,;CCDC19,upstream_gene_variant,,ENST00000479861,;RP11-190A12.7,upstream_gene_variant,,ENST00000537167,;RP11-190A12.7,upstream_gene_variant,,ENST00000536779,;RP11-190A12.7,upstream_gene_variant,,ENST00000536764,;RP11-190A12.7,upstream_gene_variant,,ENST00000543372,;RP11-190A12.7,upstream_gene_variant,,ENST00000544342,;	1173	129	138	SUCCESS
PLD5	200150	.	GRCh37	1	242277198	242277198	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	90	88	1	ENST00000442594.2:c.788C>A	p.Thr263Asn	p.T263N	ENST00000442594	NM_152666.2	263	aCc/aAc	0	.	.	.	.	.	T	T/N	protein_coding	YES	CCDS1621.2	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGTGCTT	NONE	.	.	hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Pfam_domain:PF13918,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	.	.	ENSP00000440896	.	7/10	.	.	.	.	.	.	.	.	.	7/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated(0.55)	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,missense_variant,p.Thr355Asn,ENST00000536534,;PLD5,missense_variant,p.Thr293Asn,ENST00000427495,;PLD5,missense_variant,p.Thr263Asn,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1306	89	155	SUCCESS
PSMG1	8624	.	GRCh37	21	40550541	40550541	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	64	120	0	ENST00000331573.3:c.489G>C	p.Gln163His	p.Q163H	ENST00000331573	NM_003720.3	163	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS13660.1	489	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTATCTGCAT	NONE	.	.	hmmpanther:PTHR15069,PIRSF_domain:PIRSF010076	.	.	ENSP00000329915	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000331573	Transcript	.	.	ENSG00000183527	3043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.94)	.	deleterious(0.03)	.	PSMG1_HUMAN	PSMG1	HGNC	.	.	UPI000012990A	SNV	PSMG1,missense_variant,p.Gln142His,ENST00000380900,;PSMG1,missense_variant,p.Gln163His,ENST00000331573,;PSMG1,3_prime_UTR_variant,,ENST00000411828,;PSMG1,3_prime_UTR_variant,,ENST00000431628,;PSMG1,non_coding_transcript_exon_variant,,ENST00000481921,;	955	120	144	SUCCESS
SCUBE1	80274	.	GRCh37	22	43634957	43634957	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs747699067	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	41	139	0	ENST00000360835.4:c.731C>T	p.Thr244Met	p.T244M	ENST00000360835	NM_173050.3	244	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS14048.1	731	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCACGTCTCT	NONE	byFrequency	.	hmmpanther:PTHR24046:SF4,hmmpanther:PTHR24046,SMART_domains:SM00181	.	.	ENSP00000354080	.	7/22	.	.	.	.	.	.	.	.	rs747699067,COSM315031	7/22	PASS	ENST00000360835	Transcript	.	.	ENSG00000159307	13441	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.97)	.	deleterious(0)	0,1	SCUB1_HUMAN	SCUBE1	HGNC	.	.	UPI000020790F	SNV	SCUBE1,missense_variant,p.Thr244Met,ENST00000360835,;SCUBE1,missense_variant,p.Thr274Met,ENST00000290460,;SCUBE1,missense_variant,p.Thr98Met,ENST00000449304,;Z82214.2,non_coding_transcript_exon_variant,,ENST00000419643,;	858	139	114	SUCCESS
FLJ27365	0	.	GRCh37	22	46501636	46501636	+	intron_variant	Intron	DEL	C	C	-	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	61	0	ENST00000360737.3:c.150-3509del		p.*50*	ENST00000360737				0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGGCCCGCA	NONE	.	.	.	.	.	ENSP00000353966	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360737	Transcript	.	.	ENSG00000197182	.	2	.	MODIFIER	3/4	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	FLJ27365	Uniprot_gn	Q6ZNQ0_HUMAN,B1AKH8_HUMAN	.	UPI00001C11DA	deletion	FLJ27365,frameshift_variant,p.Pro186ArgfsTer46,ENST00000381051,;FLJ27365,intron_variant,,ENST00000360737,;FLJ27365,intron_variant,,ENST00000435439,;	.	61	105	SUCCESS
GALNT13	114805	.	GRCh37	2	155295175	155295175	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	81	0	ENST00000392825.3:c.1467A>G	p.Gly489=	p.G489=	ENST00000392825	NM_052917.2	489	ggA/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS2199.1	1467	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGGACCTGT	NONE	.	.	Superfamily_domains:SSF50370,SMART_domains:SM00458,Gene3D:2.80.10.50,Pfam_domain:PF00652,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21,PROSITE_profiles:PS50231	.	.	ENSP00000376570	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000392825	Transcript	.	.	ENSG00000144278	23242	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLT13_HUMAN	GALNT13	HGNC	Q68VI8_HUMAN	.	UPI0000051E22	SNV	GALNT13,missense_variant,p.Thr28Ala,ENST00000422126,;GALNT13,synonymous_variant,p.%3D,ENST00000392825,;GALNT13,synonymous_variant,p.%3D,ENST00000409237,;GALNT13,synonymous_variant,p.%3D,ENST00000450838,;GALNT13,synonymous_variant,p.%3D,ENST00000453715,;AC009227.2,intron_variant,,ENST00000434635,;GALNT13,non_coding_transcript_exon_variant,,ENST00000487047,;GALNT13,upstream_gene_variant,,ENST00000489553,;	2034	81	80	SUCCESS
TTN	7273	.	GRCh37	2	179399862	179399862	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376403708	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	60	0	ENST00000591111.1:c.96557G>A	p.Arg32186His	p.R32186H	ENST00000591111		32186	cGt/cAt	0	T:0	T:0	.	T:0	.	T	R/H	protein_coding	YES	CCDS59435.1	101480	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCACGCCCA	NONE	byCluster|by1000G	.	PROSITE_profiles:PS50011,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:3.30.200.20,Pfam_domain:PF00069,Superfamily_domains:SSF56112	T:0	T:0.0001	ENSP00000467141	T:0	358/363	.	.	.	.	.	.	.	.	rs376403708	358/363	PASS	ENST00000589042	Transcript	.	T:0.0002	ENSG00000155657	12403	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,missense_variant,p.Arg24887His,ENST00000359218,;TTN,missense_variant,p.Arg24762His,ENST00000460472,;TTN,missense_variant,p.Arg32186His,ENST00000591111,;TTN,missense_variant,p.Arg33827His,ENST00000589042,;TTN,missense_variant,p.Arg24954His,ENST00000342175,;TTN,missense_variant,p.Arg31259His,ENST00000342992,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;	101705	60	63	SUCCESS
FSIP2	401024	.	GRCh37	2	186672932	186672932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	133	323	0	ENST00000424728.1:c.18899C>T	p.Pro6300Leu	p.P6300L	ENST00000424728		6300	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS54426.1	19166	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAACCTCAAG	NONE	.	.	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1	.	.	ENSP00000344403	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000343098	Transcript	.	.	ENSG00000188738	21675	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	.	.	.	FSIP2	HGNC	J3QTJ6_HUMAN	.	UPI0001D420A1	SNV	FSIP2,missense_variant,p.Pro6389Leu,ENST00000343098,;FSIP2,missense_variant,p.Pro6300Leu,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	19166	323	308	SUCCESS
DNAH7	56171	.	GRCh37	2	196619175	196619175	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	61	129	0	ENST00000312428.6:c.11650T>C	p.Phe3884Leu	p.F3884L	ENST00000312428	NM_018897.2	3884	Ttc/Ctc	0	.	.	.	.	.	G	F/L	protein_coding	YES	CCDS42794.1	11650	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAAGGCTT	NONE	.	.	hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000311273	.	63/65	.	.	.	.	.	.	.	.	.	63/65	PASS	ENST00000312428	Transcript	.	.	ENSG00000118997	18661	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DYH7_HUMAN	DNAH7	HGNC	C9JUY3_HUMAN	.	UPI0000141B95	SNV	DNAH7,missense_variant,p.Phe367Leu,ENST00000409063,;DNAH7,missense_variant,p.Phe3884Leu,ENST00000312428,;DNAH7,intron_variant,,ENST00000438565,;	11751	129	147	SUCCESS
UNC80	285175	.	GRCh37	2	210698727	210698727	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	49	107	0	ENST00000439458.1:c.2777G>T	p.Gly926Val	p.G926V	ENST00000439458	NM_032504.1	926	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS46504.1	2777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGACTGT	NONE	.	.	hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1	.	.	ENSP00000391088	.	17/64	.	.	.	.	.	.	.	.	.	17/64	PASS	ENST00000439458	Transcript	.	.	ENSG00000144406	26582	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.636)	.	.	.	UNC80_HUMAN	UNC80	HGNC	.	.	UPI00017E10C9	SNV	UNC80,missense_variant,p.Gly926Val,ENST00000439458,;UNC80,missense_variant,p.Gly921Val,ENST00000272845,;UNC80,splice_region_variant,,ENST00000489023,;	2857	107	110	SUCCESS
MFF	56947	.	GRCh37	2	228194472	228194472	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145010660	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	74	253	0	ENST00000353339.3:c.11G>T	p.Gly4Val	p.G4V	ENST00000353339	NM_001277061.1	4	gGa/gTa	0	C:0.0002	C:0.0015	.	C:0	.	T	G/V	protein_coding	YES	CCDS2465.1	11	RADIA|MUTECT|MUSE	.	TAAAGGAACAA	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0	ENSP00000302037	C:0	3/11	.	.	.	.	.	.	.	.	rs145010660	3/11	PASS	ENST00000353339	Transcript	.	C:0.0004	ENSG00000168958	24858	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.031)	C:0	tolerated_low_confidence(0.05)	.	MFF_HUMAN	MFF	HGNC	E9PPR7_HUMAN,E9PK16_HUMAN,C9JU19_HUMAN,C9JI76_HUMAN,C9JHF5_HUMAN,C9JAF1_HUMAN,C9J846_HUMAN	.	UPI0000072C36	SNV	MFF,missense_variant,p.Gly4Val,ENST00000353339,;MFF,missense_variant,p.Gly4Val,ENST00000392059,;MFF,missense_variant,p.Gly4Val,ENST00000443428,;MFF,missense_variant,p.Gly4Val,ENST00000436237,;MFF,5_prime_UTR_variant,,ENST00000418961,;MFF,5_prime_UTR_variant,,ENST00000409616,;MFF,intron_variant,,ENST00000409565,;MFF,intron_variant,,ENST00000354503,;MFF,intron_variant,,ENST00000530359,;MFF,intron_variant,,ENST00000349901,;MFF,intron_variant,,ENST00000423098,;MFF,intron_variant,,ENST00000531278,;MFF,intron_variant,,ENST00000304593,;MFF,intron_variant,,ENST00000525195,;MFF,intron_variant,,ENST00000534203,;MFF,intron_variant,,ENST00000452930,;MFF,intron_variant,,ENST00000337110,;MFF,intron_variant,,ENST00000524634,;AC097662.2,upstream_gene_variant,,ENST00000433324,;AC097662.2,upstream_gene_variant,,ENST00000396588,;AC097662.2,upstream_gene_variant,,ENST00000439598,;MFF,intron_variant,,ENST00000476924,;MFF,upstream_gene_variant,,ENST00000436791,;MFF,non_coding_transcript_exon_variant,,ENST00000460756,;MFF,intron_variant,,ENST00000489696,;MFF,intron_variant,,ENST00000470090,;	452	253	246	SUCCESS
ANKMY1	51281	.	GRCh37	2	241421602	241421602	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	78	0	ENST00000272972.3:c.2616G>C		p.X872_splice	ENST00000272972	NM_016552.2	872	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS2536.1	2616	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCCCCTG	NONE	.	.	hmmpanther:PTHR15897:SF1,hmmpanther:PTHR15897	.	.	ENSP00000375847	.	16/18	.	.	.	.	.	.	.	.	.	16/18	PASS	ENST00000391987	Transcript	.	.	ENSG00000144504	20987	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKY1_HUMAN	ANKMY1	HGNC	C9JZ56_HUMAN	.	UPI000013D98C	SNV	ANKMY1,synonymous_variant,p.%3D,ENST00000272972,;ANKMY1,synonymous_variant,p.%3D,ENST00000391987,;ANKMY1,synonymous_variant,p.%3D,ENST00000361678,;ANKMY1,synonymous_variant,p.%3D,ENST00000373320,;ANKMY1,synonymous_variant,p.%3D,ENST00000403283,;ANKMY1,synonymous_variant,p.%3D,ENST00000373318,;ANKMY1,synonymous_variant,p.%3D,ENST00000401804,;ANKMY1,synonymous_variant,p.%3D,ENST00000406958,;ANKMY1,intron_variant,,ENST00000407275,;	2983	78	61	SUCCESS
REL	5966	.	GRCh37	2	61147184	61147184	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs752907267	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	239	148	417	0	ENST00000295025.8:c.862G>A	p.Gly288Ser	p.G288S	ENST00000295025	NM_002908.2	288	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS1864.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACGGCAAT	NONE	byFrequency	.	hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF4,Gene3D:2.60.40.10,Superfamily_domains:SSF81296	.	.	ENSP00000295025	.	8/11	.	.	.	.	.	.	.	.	rs752907267	8/11	PASS	ENST00000295025	Transcript	.	.	ENSG00000162924	9954	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	REL_HUMAN	REL	HGNC	.	.	UPI000013367B	SNV	REL,missense_variant,p.Gly288Ser,ENST00000394479,;REL,missense_variant,p.Gly288Ser,ENST00000295025,;	1182	418	387	SUCCESS
C2orf81	388963	.	GRCh37	2	74642190	74642190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	43	114	0	ENST00000290390.5:c.1033G>T	p.Ala345Ser	p.A345S	ENST00000290390	NM_001145054.1	345	Gcc/Tcc	0	.	.	.	.	.	A	A/S	protein_coding	YES	.	1033	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGGCCGCCT	NONE	.	.	Pfam_domain:PF15479	.	.	ENSP00000290390	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290390	Transcript	.	.	ENSG00000159239	34350	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.311)	.	tolerated(0.31)	.	.	C2orf81	HGNC	G3XAA6_HUMAN	.	UPI0000EE2496	SNV	C2orf81,missense_variant,p.Ala277Ser,ENST00000517883,;C2orf81,missense_variant,p.Ala345Ser,ENST00000290390,;C2orf81,downstream_gene_variant,,ENST00000518401,;C2orf81,downstream_gene_variant,,ENST00000517896,;C2orf81,downstream_gene_variant,,ENST00000518863,;HMGA1P8,downstream_gene_variant,,ENST00000414130,;AC005041.11,upstream_gene_variant,,ENST00000448783,;	1342	114	96	SUCCESS
DNAH6	1768	.	GRCh37	2	85039487	85039487	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	58	129	0	ENST00000237449.6:c.11762A>G	p.Lys3921Arg	p.K3921R	ENST00000237449		3921	aAa/aGa	0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS46348.1	11762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAAGCCA	NONE	.	.	hmmpanther:PTHR10676:SF136,hmmpanther:PTHR10676,Pfam_domain:PF03028	.	.	ENSP00000374045	.	73/77	.	.	.	.	.	.	.	.	.	73/77	PASS	ENST00000389394	Transcript	.	.	ENSG00000115423	2951	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.717)	.	tolerated(0.16)	.	DYH6_HUMAN	DNAH6	HGNC	B0I1R8_HUMAN	.	UPI000163AC9D	SNV	DNAH6,missense_variant,p.Lys3921Arg,ENST00000237449,;DNAH6,missense_variant,p.Lys3921Arg,ENST00000389394,;	11899	129	136	SUCCESS
GPAT2	150763	.	GRCh37	2	96690055	96690055	+	missense_variant	Missense_Mutation	SNP	C	C	G	.	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	71	0	ENST00000359548.4:c.1700G>C	p.Arg567Thr	p.R567T	ENST00000359548	NM_207328.2	567	aGa/aCa	0	.	.	.	.	.	G	R/T	protein_coding	YES	CCDS42714.1	1700	MUTECT|MUSE|VARSCANS	.	GCACTCTGCCT	NONE	.	.	hmmpanther:PTHR12563:SF7,hmmpanther:PTHR12563	.	.	ENSP00000389395	.	17/23	.	.	.	.	.	.	.	.	COSM3799274	17/23	PASS	ENST00000434632	Transcript	.	.	ENSG00000186281	27168	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	benign(0.402)	.	tolerated(0.15)	1	GPAT2_HUMAN	GPAT2	HGNC	C9JYV5_HUMAN	.	UPI0000E5E123	SNV	GPAT2,missense_variant,p.Arg567Thr,ENST00000377137,;GPAT2,missense_variant,p.Arg567Thr,ENST00000359548,;GPAT2,missense_variant,p.Arg496Thr,ENST00000453542,;GPAT2,missense_variant,p.Arg567Thr,ENST00000434632,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;FAHD2CP,downstream_gene_variant,,ENST00000443258,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;FAHD2CP,downstream_gene_variant,,ENST00000467292,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;FAHD2CP,downstream_gene_variant,,ENST00000427863,;	2160	71	76	SUCCESS
B4GALT4	8702	.	GRCh37	3	118948707	118948707	+	synonymous_variant	Silent	SNP	C	C	T	rs761517196	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	56	0	ENST00000359213.3:c.240G>A	p.Val80=	p.V80=	ENST00000359213	NM_212543.1	80	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS2986.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGACACAGA	NONE	byFrequency	.	hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF9,Pfam_domain:PF13733,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000420161	.	3/8	.	.	.	.	.	.	.	.	rs761517196	3/8	PASS	ENST00000483209	Transcript	.	.	ENSG00000121578	927	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B4GT4_HUMAN	B4GALT4	HGNC	C9JY38_HUMAN,C9JY35_HUMAN,C9JE00_HUMAN,C9J644_HUMAN,C9J5S0_HUMAN,C9J4S5_HUMAN,C9J3R8_HUMAN,B2RAZ5_HUMAN	.	UPI00000389DB	SNV	B4GALT4,synonymous_variant,p.%3D,ENST00000483209,;B4GALT4,synonymous_variant,p.%3D,ENST00000471675,;B4GALT4,synonymous_variant,p.%3D,ENST00000475803,;B4GALT4,synonymous_variant,p.%3D,ENST00000467604,;B4GALT4,synonymous_variant,p.%3D,ENST00000393765,;B4GALT4,synonymous_variant,p.%3D,ENST00000359213,;B4GALT4,synonymous_variant,p.%3D,ENST00000479150,;B4GALT4,intron_variant,,ENST00000491906,;B4GALT4,downstream_gene_variant,,ENST00000473887,;B4GALT4,downstream_gene_variant,,ENST00000493932,;B4GALT4,downstream_gene_variant,,ENST00000459778,;B4GALT4,downstream_gene_variant,,ENST00000459820,;B4GALT4,downstream_gene_variant,,ENST00000470111,;B4GALT4-AS1,intron_variant,,ENST00000470790,;B4GALT4,intron_variant,,ENST00000460321,;B4GALT4,downstream_gene_variant,,ENST00000460395,;B4GALT4,downstream_gene_variant,,ENST00000472471,;B4GALT4,downstream_gene_variant,,ENST00000487579,;B4GALT4,downstream_gene_variant,,ENST00000484595,;B4GALT4,synonymous_variant,p.%3D,ENST00000480814,;	882	56	46	SUCCESS
HGD	3081	.	GRCh37	3	120389301	120389301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	47	109	0	ENST00000283871.5:c.255G>T	p.Trp85Cys	p.W85C	ENST00000283871	NM_000187.3	85	tgG/tgT	0	.	.	.	.	.	A	W/C	protein_coding	YES	CCDS3000.1	255	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATCCCAGTT	NONE	.	.	hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Pfam_domain:PF04209,Superfamily_domains:SSF51182	.	.	ENSP00000283871	.	4/14	.	.	.	.	.	.	.	.	.	4/14	PASS	ENST00000283871	Transcript	.	.	ENSG00000113924	4892	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.088)	.	deleterious(0.02)	.	HGD_HUMAN	HGD	HGNC	B3KW64_HUMAN	.	UPI000020A025	SNV	HGD,missense_variant,p.Trp44Cys,ENST00000476082,;HGD,missense_variant,p.Trp85Cys,ENST00000283871,;HGD,non_coding_transcript_exon_variant,,ENST00000488183,;HGD,non_coding_transcript_exon_variant,,ENST00000485313,;HGD,non_coding_transcript_exon_variant,,ENST00000466528,;HGD,downstream_gene_variant,,ENST00000480862,;	715	109	114	SUCCESS
POLQ	10721	.	GRCh37	3	121258426	121258426	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	121	78	214	0	ENST00000264233.5:c.485A>G	p.Gln162Arg	p.Q162R	ENST00000264233	NM_199420.3	162	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS33833.1	485	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGAAAC	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000264233	.	4/30	.	.	.	.	.	.	.	.	.	4/30	PASS	ENST00000264233	Transcript	.	.	ENSG00000051341	9186	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0.01)	.	DPOLQ_HUMAN	POLQ	HGNC	.	.	UPI0000D61B5F	SNV	POLQ,missense_variant,p.Gln162Arg,ENST00000264233,;	614	214	199	SUCCESS
METTL6	131965	.	GRCh37	3	15468097	15468097	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	23	0	ENST00000383790.3:c.-79C>G		p.*27*	ENST00000383790	NM_152396.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43056.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GATCAGATACA	NONE	.	.	.	.	.	ENSP00000407613	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000443029	Transcript	.	.	ENSG00000206562	28343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	METL6_HUMAN	METTL6	HGNC	.	.	UPI000020ABF4	SNV	METTL6,5_prime_UTR_variant,,ENST00000383790,;METTL6,5_prime_UTR_variant,,ENST00000598878,;METTL6,5_prime_UTR_variant,,ENST00000450816,;METTL6,5_prime_UTR_variant,,ENST00000443029,;METTL6,5_prime_UTR_variant,,ENST00000383789,;EAF1,upstream_gene_variant,,ENST00000396842,;METTL6,upstream_gene_variant,,ENST00000453819,;EAF1,upstream_gene_variant,,ENST00000432764,;METTL6,upstream_gene_variant,,ENST00000489881,;EAF1,upstream_gene_variant,,ENST00000449565,;	163	23	34	SUCCESS
GOLGA4	2803	.	GRCh37	3	37340443	37340443	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	256	157	427	0	ENST00000361924.2:c.934T>C	p.Leu312=	p.L312=	ENST00000361924	NM_002078.4	312	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS54564.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTATTAACT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	.	.	ENSP00000349305	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000356847	Transcript	.	.	ENSG00000144674	4427	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GOGA4_HUMAN	GOLGA4	HGNC	.	.	UPI000198C9CA	SNV	GOLGA4,synonymous_variant,p.%3D,ENST00000356847,;GOLGA4,synonymous_variant,p.%3D,ENST00000361924,;GOLGA4,synonymous_variant,p.%3D,ENST00000437131,;GOLGA4,synonymous_variant,p.%3D,ENST00000450863,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;GOLGA4,downstream_gene_variant,,ENST00000419177,;	1299	427	414	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266107	41266107	+	missense_variant	Missense_Mutation	SNP	T	T	G	.	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	45	168	0	ENST00000349496.5:c.104T>G	p.Ile35Ser	p.I35S	ENST00000349496	NM_001904.3	35	aTc/aGc	0	.	.	.	.	.	G	I/S	protein_coding	YES	CCDS2694.1	104	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAATCCATT	SITE|p.I35S|c.104T>G|36,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.I35T|c.104T>C|14,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.S33L|c.97_98TC>CT|4,BUFFER|p.S33N|c.97_98TC>AA|3,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.S33C|c.98C>G|191,BUFFER|p.S33F|c.98C>T|110,BUFFER|p.S33Y|c.98C>A|73,BUFFER|p.S33S|c.99T>C|3,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34R|c.100G>A|88,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4,BUFFER|p.G38D|c.113G>A|3	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	COSM5674,COSM13168,COSM5695	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	possibly_damaging(0.852)	.	deleterious(0)	1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Ile35Ser,ENST00000349496,;CTNNB1,missense_variant,p.Ile28Ser,ENST00000426215,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000450969,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000431914,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000396185,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000405570,;CTNNB1,missense_variant,p.Ile28Ser,ENST00000453024,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000396183,;CTNNB1,missense_variant,p.Ile35Ser,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	384	168	114	SUCCESS
DNAH1	25981	.	GRCh37	3	52406261	52406261	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs192221185	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	59	0	ENST00000420323.2:c.6685A>G	p.Thr2229Ala	p.T2229A	ENST00000420323	NM_015512.4	2229	Aca/Gca	0	.	G:0	.	G:0.0014	.	G	T/A	protein_coding	YES	CCDS46842.1	6685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAACAGGC	NONE	byCluster|by1000G	.	Superfamily_domains:SSF52540,Pfam_domain:PF12775,Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	G:0	.	ENSP00000401514	G:0	43/78	.	.	.	.	.	.	.	.	rs192221185	43/78	PASS	ENST00000420323	Transcript	.	G:0.0002	ENSG00000114841	2940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.738)	G:0	.	.	DYH1_HUMAN	DNAH1	HGNC	.	.	UPI0001AE79D6	SNV	DNAH1,missense_variant,p.Thr2229Ala,ENST00000420323,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;RP11-168J18.6,upstream_gene_variant,,ENST00000495716,;	6946	59	50	SUCCESS
QRFPR	84109	.	GRCh37	4	122301709	122301709	+	synonymous_variant	Silent	SNP	G	G	T	rs755336933	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	71	129	1	ENST00000394427.2:c.94C>A	p.Arg32=	p.R32=	ENST00000394427	NM_198179.2	32	Cga/Aga	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS3719.1	94	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTCGCAGCC	NONE	byFrequency	.	hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65	.	.	ENSP00000377948	.	1/6	.	.	.	.	.	.	.	.	rs755336933,COSM1222865	1/6	PASS	ENST00000394427	Transcript	.	.	ENSG00000186867	15565	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	QRFPR_HUMAN	QRFPR	HGNC	.	.	UPI0000047B23	SNV	QRFPR,synonymous_variant,p.%3D,ENST00000394427,;QRFPR,synonymous_variant,p.%3D,ENST00000334383,;QRFPR,synonymous_variant,p.%3D,ENST00000507331,;QRFPR,non_coding_transcript_exon_variant,,ENST00000512235,;	506	131	165	SUCCESS
HHIP	64399	.	GRCh37	4	145580921	145580921	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	61	180	0	ENST00000296575.3:c.762T>C	p.Leu254=	p.L254=	ENST00000296575	NM_022475.2	254	ctT/ctC	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS3762.1	762	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTTACCCC	NONE	.	.	Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27	.	.	ENSP00000296575	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000296575	Transcript	1	.	ENSG00000164161	14866	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HHIP_HUMAN	HHIP	HGNC	.	.	UPI0000071302	SNV	HHIP,synonymous_variant,p.%3D,ENST00000296575,;HHIP,synonymous_variant,p.%3D,ENST00000434550,;HHIP-AS1,intron_variant,,ENST00000512359,;HHIP,non_coding_transcript_exon_variant,,ENST00000511314,;HHIP,non_coding_transcript_exon_variant,,ENST00000509630,;HHIP,non_coding_transcript_exon_variant,,ENST00000505891,;HHIP,downstream_gene_variant,,ENST00000515080,;	1417	180	156	SUCCESS
ARHGAP10	79658	.	GRCh37	4	148802993	148802993	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1260100762	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	88	1	ENST00000336498.3:c.944A>G	p.Asp315Gly	p.D315G	ENST00000336498	NM_024605.3	315	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS34075.1	944	MUTECT|MUSE	.	GGGGGACGGAG	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000336923	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000336498	Transcript	.	.	ENSG00000071205	26099	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.968)	.	tolerated(0.24)	.	RHG10_HUMAN	ARHGAP10	HGNC	Q8ND72_HUMAN,Q3KQX3_HUMAN	.	UPI000013EA63	SNV	ARHGAP10,missense_variant,p.Asp315Gly,ENST00000336498,;ARHGAP10,upstream_gene_variant,,ENST00000507661,;ARHGAP10,upstream_gene_variant,,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	1183	90	84	SUCCESS
DDX60	55601	.	GRCh37	4	169208296	169208296	+	synonymous_variant	Silent	SNP	G	G	A	rs144769993	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	67	196	1	ENST00000393743.3:c.1242C>T	p.Thr414=	p.T414=	ENST00000393743	NM_017631.5	414	acC/acT	0	C:0	.	.	.	.	A	T	protein_coding	YES	CCDS34097.1	1242	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATACGGTATT	NONE	byCluster	.	hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752	.	C:0.0001	ENSP00000377344	.	10/38	.	.	.	.	.	.	.	.	rs144769993	10/38	PASS	ENST00000393743	Transcript	.	.	ENSG00000137628	25942	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX60_HUMAN	DDX60	HGNC	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN	.	UPI000020B6AB	SNV	DDX60,synonymous_variant,p.%3D,ENST00000393743,;	1534	197	184	SUCCESS
DDX60	55601	.	GRCh37	4	169209405	169209405	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	388	237	670	1	ENST00000393743.3:c.1103A>G	p.Asn368Ser	p.N368S	ENST00000393743	NM_017631.5	368	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS34097.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATTCAGA	NONE	.	.	hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752	.	.	ENSP00000377344	.	9/38	.	.	.	.	.	.	.	.	.	9/38	PASS	ENST00000393743	Transcript	.	.	ENSG00000137628	25942	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.354)	.	deleterious(0.01)	.	DDX60_HUMAN	DDX60	HGNC	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN	.	UPI000020B6AB	SNV	DDX60,missense_variant,p.Asn368Ser,ENST00000393743,;	1395	671	625	SUCCESS
KCTD8	386617	.	GRCh37	4	44449630	44449630	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1406831947	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	32	80	0	ENST00000360029.3:c.911A>G	p.Gln304Arg	p.Q304R	ENST00000360029	NM_198353.2	304	cAg/cGg	0	.	.	.	.	.	C	Q/R	protein_coding	YES	CCDS3467.1	911	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACTGGTTG	NONE	.	.	hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	.	.	ENSP00000353129	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000360029	Transcript	.	.	ENSG00000183783	22394	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.452)	.	tolerated(0.18)	.	KCTD8_HUMAN	KCTD8	HGNC	B4DQJ9_HUMAN	.	UPI00001C08D6	SNV	KCTD8,missense_variant,p.Gln304Arg,ENST00000360029,;KCTD8,coding_sequence_variant,p.%3D,ENST00000515268,;AC131951.1,upstream_gene_variant,,ENST00000584757,;	1195	80	59	SUCCESS
KIT	3815	.	GRCh37	4	55564533	55564533	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	28	130	0	ENST00000288135.5:c.421C>T	p.Pro141Ser	p.P141S	ENST00000288135	NM_000222.2	141	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS3496.1	421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACCCAGAA	NONE	.	.	Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951	.	.	ENSP00000288135	.	3/21	.	.	.	.	.	.	.	.	.	3/21	PASS	ENST00000288135	Transcript	1	.	ENSG00000157404	6342	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KIT_HUMAN	KIT	HGNC	Q8TCG9_HUMAN	.	UPI000003F17D	SNV	KIT,missense_variant,p.Pro141Ser,ENST00000412167,;KIT,missense_variant,p.Pro141Ser,ENST00000288135,;KIT,downstream_gene_variant,,ENST00000514582,;	518	130	96	SUCCESS
TADA2B	93624	.	GRCh37	4	7056279	7056279	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	59	145	0	ENST00000310074.7:c.761A>G	p.Glu254Gly	p.E254G	ENST00000310074	NM_152293.2	254	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS47007.1	761	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGAGCTGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12374,PIRSF_domain:PIRSF025024	.	.	ENSP00000308022	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310074	Transcript	.	.	ENSG00000173011	30781	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.037)	.	tolerated(0.08)	.	TAD2B_HUMAN	TADA2B	HGNC	D6RJ05_HUMAN,D6RC20_HUMAN	.	UPI00001996F4	SNV	TADA2B,missense_variant,p.Glu162Gly,ENST00000515646,;TADA2B,missense_variant,p.Glu254Gly,ENST00000310074,;TADA2B,missense_variant,p.Glu179Gly,ENST00000512388,;TADA2B,downstream_gene_variant,,ENST00000506692,;GRPEL1,downstream_gene_variant,,ENST00000264954,;TADA2B,downstream_gene_variant,,ENST00000510704,;	950	145	150	SUCCESS
SLC4A4	8671	.	GRCh37	4	72205022	72205022	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	55	162	0	ENST00000264485.5:c.254-65C>T		p.*85*	ENST00000264485	NM_001098484.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47071.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCCGGAG	NONE	.	.	.	.	.	ENSP00000393557	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425175	Transcript	1	.	ENSG00000080493	11030	.	.	MODIFIER	3/24	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A4_HUMAN	SLC4A4	HGNC	A5JJ20_HUMAN	.	UPI000152897D	SNV	SLC4A4,synonymous_variant,p.%3D,ENST00000340595,;SLC4A4,synonymous_variant,p.%3D,ENST00000512686,;SLC4A4,intron_variant,,ENST00000425175,;SLC4A4,intron_variant,,ENST00000264485,;SLC4A4,intron_variant,,ENST00000351898,;SLC4A4,intron_variant,,ENST00000514331,;	.	162	142	SUCCESS
ALB	213	.	GRCh37	4	74275199	74275199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	68	167	1	ENST00000295897.4:c.610C>A	p.Pro204Thr	p.P204T	ENST00000295897	NM_000477.5	204	Cca/Aca	0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS3555.1	610	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGCCAAAG	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PROSITE_patterns:PS00212,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	5/15	.	.	.	.	.	.	.	.	.	5/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.014)	.	tolerated(0.15)	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	SNV	ALB,missense_variant,p.Pro204Thr,ENST00000509063,;ALB,missense_variant,p.Pro49Thr,ENST00000511370,;ALB,missense_variant,p.Pro204Thr,ENST00000295897,;ALB,missense_variant,p.Pro54Thr,ENST00000503124,;ALB,missense_variant,p.Pro89Thr,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,stop_gained,p.Cys69Ter,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	699	168	159	SUCCESS
TERT	7015	.	GRCh37	5	1294294	1294294	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	186	511	321	1	ENST00000310581.5:c.707A>C	p.Lys236Thr	p.K236T	ENST00000310581	NM_198253.2	236	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS3861.2	707	RADIA|SOMATICSNIPER|VARSCANS	.	GCCTCTTGGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066	.	.	ENSP00000309572	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.534)	.	tolerated(0.07)	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,missense_variant,p.Lys236Thr,ENST00000296820,;TERT,missense_variant,p.Lys236Thr,ENST00000310581,;TERT,missense_variant,p.Lys236Thr,ENST00000508104,;TERT,missense_variant,p.Lys236Thr,ENST00000334602,;TERT,downstream_gene_variant,,ENST00000522877,;TERT,missense_variant,p.Lys236Thr,ENST00000460137,;	765	322	697	SUCCESS
TERT	7015	.	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	rs878855297	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	72	58	0	ENST00000310581.5:c.-57A>C		p.*19*	ENST00000310581	NM_198253.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3861.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGAAAC	NONE	.	.	.	.	.	ENSP00000309572	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000310581	Transcript	1	.	ENSG00000164362	11730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERT_HUMAN	TERT	HGNC	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN	.	UPI0000031309	SNV	TERT,5_prime_UTR_variant,,ENST00000296820,;TERT,5_prime_UTR_variant,,ENST00000310581,;TERT,upstream_gene_variant,,ENST00000508104,;TERT,upstream_gene_variant,,ENST00000334602,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,upstream_gene_variant,,ENST00000460137,;	2	58	103	SUCCESS
ANKHD1	54882	.	GRCh37	5	139908468	139908468	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	19	47	0	ENST00000360839.2:c.5937G>A	p.Val1979=	p.V1979=	ENST00000360839	NM_017747.2	1979	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4224.1	5937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGACAAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23206	.	.	ENSP00000297183	.	29/36	.	.	.	.	.	.	.	.	.	29/36	PASS	ENST00000297183	Transcript	.	.	ENSG00000131503	24714	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKH1_HUMAN	ANKHD1	HGNC	.	.	UPI0000074448	SNV	ANKHD1,synonymous_variant,p.%3D,ENST00000432301,;ANKHD1,synonymous_variant,p.%3D,ENST00000435794,;ANKHD1,synonymous_variant,p.%3D,ENST00000360839,;ANKHD1,synonymous_variant,p.%3D,ENST00000544120,;ANKHD1,synonymous_variant,p.%3D,ENST00000297183,;ANKHD1,synonymous_variant,p.%3D,ENST00000433049,;ANKHD1,synonymous_variant,p.%3D,ENST00000431508,;ANKHD1-EIF4EBP3,synonymous_variant,p.%3D,ENST00000532219,;ANKHD1,downstream_gene_variant,,ENST00000412116,;ANKHD1,downstream_gene_variant,,ENST00000421134,;ANKHD1,downstream_gene_variant,,ENST00000246149,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000437495,;SNORD45,upstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,upstream_gene_variant,,ENST00000475148,;	6061	47	24	SUCCESS
ZNF300	91975	.	GRCh37	5	150282729	150282729	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	378	18	294	0	ENST00000274599.5:c.-12G>A		p.*4*	ENST00000274599	NM_052860.2	13		0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS54940.1	37	MUTECT|MUSE	.	CTCTTCCAAAA	NONE	.	.	.	.	.	ENSP00000397178	.	4/7	.	.	.	.	.	.	.	.	.	4/7	PASS	ENST00000446148	Transcript	.	.	ENSG00000145908	13091	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.66)	.	.	ZNF300	HGNC	J3KQF6_HUMAN	.	UPI0001AE74AD	SNV	ZNF300,missense_variant,p.Glu13Lys,ENST00000446148,;ZNF300,5_prime_UTR_variant,,ENST00000427179,;ZNF300,5_prime_UTR_variant,,ENST00000274599,;ZNF300,5_prime_UTR_variant,,ENST00000394226,;ZNF300,intron_variant,,ENST00000418587,;IRGM,downstream_gene_variant,,ENST00000520549,;	465	295	396	SUCCESS
HAVCR1	26762	.	GRCh37	5	156482260	156482260	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1196575610	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	106	0	ENST00000339252.3:c.331G>A	p.Gly111Arg	p.G111R	ENST00000339252	NM_012206.2	111	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS43392.1	331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCACGGT	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR15498:SF8,hmmpanther:PTHR15498,PROSITE_profiles:PS50835	.	.	ENSP00000344844	.	2/8	.	.	.	.	.	.	.	.	COSM3853100,COSM3853101	2/8	PASS	ENST00000339252	Transcript	.	.	ENSG00000113249	17866	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.968)	.	deleterious(0.05)	1,1	HAVR1_HUMAN	HAVCR1	HGNC	E5RIF6_HUMAN	.	UPI000006EEEC	SNV	HAVCR1,missense_variant,p.Gly111Arg,ENST00000425854,;HAVCR1,missense_variant,p.Gly111Arg,ENST00000339252,;HAVCR1,missense_variant,p.Gly111Arg,ENST00000523175,;HAVCR1,missense_variant,p.Gly111Arg,ENST00000544197,;HAVCR1,missense_variant,p.Gly111Arg,ENST00000518745,;HAVCR1,missense_variant,p.Gly111Arg,ENST00000522693,;	864	106	88	SUCCESS
OSMR	9180	.	GRCh37	5	38921880	38921880	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	71	160	0	ENST00000274276.3:c.1749C>T	p.Ser583=	p.S583=	ENST00000274276	NM_003999.2	583	agC/agT	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS3928.1	1749	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGCACAGT	CODON|p.T584A|c.1750A>G|3	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF80,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000274276	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000274276	Transcript	1	.	ENSG00000145623	8507	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSMR_HUMAN	OSMR	HGNC	.	.	UPI000004CAC3	SNV	OSMR,synonymous_variant,p.%3D,ENST00000274276,;OSMR,downstream_gene_variant,,ENST00000513831,;	2151	160	145	SUCCESS
MRPS30	10884	.	GRCh37	5	44809645	44809645	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	45	111	0	ENST00000507110.1:c.581C>T	p.Ala194Val	p.A194V	ENST00000507110	NM_016640.3	194	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS3951.1	581	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCCTGG	NONE	.	.	hmmpanther:PTHR13014,hmmpanther:PTHR13014:SF2,Pfam_domain:PF07147	.	.	ENSP00000424328	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000507110	Transcript	.	.	ENSG00000112996	8769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.71)	.	RT30_HUMAN	MRPS30	HGNC	.	.	UPI000013C944	SNV	MRPS30,missense_variant,p.Ala194Val,ENST00000507110,;RP11-53O19.1,upstream_gene_variant,,ENST00000505302,;RP11-53O19.1,upstream_gene_variant,,ENST00000508945,;RP11-53O19.1,upstream_gene_variant,,ENST00000505637,;RP11-53O19.1,upstream_gene_variant,,ENST00000503179,;RP11-53O19.1,upstream_gene_variant,,ENST00000503452,;RP11-53O19.1,upstream_gene_variant,,ENST00000514597,;RP11-53O19.1,upstream_gene_variant,,ENST00000505401,;RP11-53O19.1,upstream_gene_variant,,ENST00000508123,;MRPS30,upstream_gene_variant,,ENST00000515647,;MRPS30,upstream_gene_variant,,ENST00000508129,;	619	111	104	SUCCESS
GZMK	3003	.	GRCh37	5	54320628	54320628	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs781450225	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	100	0	ENST00000231009.2:c.205C>T	p.Gln69Ter	p.Q69*	ENST00000231009	NM_002104.2	69	Caa/Taa	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS3964.1	205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCCAATAT	NONE	.	.	Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24272:SF50,hmmpanther:PTHR24272,PROSITE_profiles:PS50240	.	.	ENSP00000231009	.	2/5	.	.	.	.	.	.	.	.	rs781450225	2/5	PASS	ENST00000231009	Transcript	.	.	ENSG00000113088	4711	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRAK_HUMAN	GZMK	HGNC	.	.	UPI0000001C46	SNV	GZMK,stop_gained,p.Gln69Ter,ENST00000231009,;ESM1,upstream_gene_variant,,ENST00000601836,;CTD-2313F11.1,non_coding_transcript_exon_variant,,ENST00000607910,;CTD-2313F11.1,intron_variant,,ENST00000608929,;CTD-2313F11.1,intron_variant,,ENST00000596909,;CTD-2313F11.1,intron_variant,,ENST00000596137,;CTD-2313F11.1,intron_variant,,ENST00000595218,;CTD-2313F11.1,intron_variant,,ENST00000608466,;CTD-2313F11.1,downstream_gene_variant,,ENST00000609699,;CTD-2313F11.1,upstream_gene_variant,,ENST00000371487,;CTD-2313F11.1,downstream_gene_variant,,ENST00000609792,;ESM1,upstream_gene_variant,,ENST00000598310,;CTD-2313F11.1,upstream_gene_variant,,ENST00000608975,;	275	100	81	SUCCESS
OTP	23440	.	GRCh37	5	76934463	76934463	+	5_prime_UTR_variant	5'UTR	SNP	A	A	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	235	197	436	1	ENST00000306422.3:c.-89T>G		p.*30*	ENST00000306422	NM_032109.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4039.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACGATATAG	NONE	.	.	.	.	.	ENSP00000302814	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000306422	Transcript	.	.	ENSG00000171540	8518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTP_HUMAN	OTP	HGNC	.	.	UPI0000021CAA	SNV	OTP,5_prime_UTR_variant,,ENST00000306422,;OTP,upstream_gene_variant,,ENST00000515716,;	1051	437	432	SUCCESS
BRD9	65980	.	GRCh37	5	892720	892720	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	173	7	79	0	ENST00000467963.1:c.52+1G>A		p.X18_splice	ENST00000467963	NM_023924.4	18		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34127.2	.	MUTECT|MUSE	.	CCTCACCCTCG	NONE	.	.	.	.	.	ENSP00000419765	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000467963	Transcript	.	.	ENSG00000028310	25818	.	.	HIGH	1/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRD9_HUMAN	BRD9	HGNC	.	.	UPI000020BEBE	SNV	BRD9,splice_donor_variant,,ENST00000467963,;BRD9,upstream_gene_variant,,ENST00000323510,;BRD9,upstream_gene_variant,,ENST00000388890,;TRIP13,upstream_gene_variant,,ENST00000513435,;BRD9,upstream_gene_variant,,ENST00000489093,;TRIP13,upstream_gene_variant,,ENST00000166345,;BRD9,upstream_gene_variant,,ENST00000483173,;BRD9,upstream_gene_variant,,ENST00000435709,;TRIP13,upstream_gene_variant,,ENST00000508456,;BRD9,splice_donor_variant,,ENST00000495265,;TRIP13,upstream_gene_variant,,ENST00000512024,;BRD9,upstream_gene_variant,,ENST00000489816,;BRD9,upstream_gene_variant,,ENST00000487688,;BRD9,upstream_gene_variant,,ENST00000495794,;BRD9,upstream_gene_variant,,ENST00000466684,;BRD9,upstream_gene_variant,,ENST00000490814,;	.	79	180	SUCCESS
TRIP13	9319	.	GRCh37	5	912081	912081	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	157	23	87	0	ENST00000166345.3:c.990C>T	p.Ile330=	p.I330=	ENST00000166345	NM_004237.3	330	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS3858.1	990	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTACCT	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23077	.	.	ENSP00000166345	.	10/13	.	.	.	.	.	.	.	.	.	10/13	PASS	ENST00000166345	Transcript	.	.	ENSG00000071539	12307	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCH2_HUMAN	TRIP13	HGNC	.	.	UPI0000048D6C	SNV	TRIP13,synonymous_variant,p.%3D,ENST00000166345,;TRIP13,downstream_gene_variant,,ENST00000513435,;TRIP13,upstream_gene_variant,,ENST00000510412,;TRIP13,upstream_gene_variant,,ENST00000509210,;TRIP13,downstream_gene_variant,,ENST00000512024,;	1346	87	180	SUCCESS
FAM184A	79632	.	GRCh37	6	119297186	119297186	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	42	0	ENST00000338891.7:c.2479C>T	p.His827Tyr	p.H827Y	ENST00000338891	NM_024581.4	827	Cat/Tat	0	.	.	.	.	.	A	H/Y	protein_coding	YES	CCDS43499.1	2479	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGATGGTTGA	NONE	.	.	hmmpanther:PTHR18870,hmmpanther:PTHR18870:SF7	.	.	ENSP00000342604	.	12/18	.	.	.	.	.	.	.	.	.	12/18	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.05)	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,missense_variant,p.His707Tyr,ENST00000368475,;FAM184A,missense_variant,p.His707Tyr,ENST00000352896,;FAM184A,missense_variant,p.His827Tyr,ENST00000338891,;FAM184A,missense_variant,p.His827Tyr,ENST00000521531,;FAM184A,upstream_gene_variant,,ENST00000521043,;FAM184A,upstream_gene_variant,,ENST00000368472,;RP11-351A11.1,intron_variant,,ENST00000518570,;FAM184A,missense_variant,p.His82Tyr,ENST00000475529,;	2923	42	43	SUCCESS
TAGAP	117289	.	GRCh37	6	159457462	159457462	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	42	1	ENST00000367066.3:c.1593G>A	p.Ser531=	p.S531=	ENST00000367066	NM_054114.4	531	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS5261.1	1593	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCGATTT	NONE	.	.	hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF26	.	.	ENSP00000356033	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367066	Transcript	.	.	ENSG00000164691	15669	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TAGAP_HUMAN	TAGAP	HGNC	.	.	UPI0000071CD5	SNV	TAGAP,synonymous_variant,p.%3D,ENST00000326965,;TAGAP,synonymous_variant,p.%3D,ENST00000367066,;TAGAP,downstream_gene_variant,,ENST00000338313,;RP1-111C20.4,intron_variant,,ENST00000606470,;RP1-111C20.4,intron_variant,,ENST00000606466,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000607391,;	1925	43	49	SUCCESS
HMGCLL1	54511	.	GRCh37	6	55441922	55441922	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs755434416	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	5	113	0	ENST00000398661.2:c.152C>T	p.Ser51Phe	p.S51F	ENST00000398661	NM_019036.2	51	tCt/tTt	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS43475.1	152	MUTECT|MUSE	.	AGCCAGAGACA	NONE	.	.	hmmpanther:PTHR10277:SF33,hmmpanther:PTHR10277	.	.	ENSP00000381654	.	2/10	.	.	.	.	.	.	.	.	rs755434416	2/10	PASS	ENST00000398661	Transcript	.	.	ENSG00000146151	21359	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated_low_confidence(0.11)	.	HMGC2_HUMAN	HMGCLL1	HGNC	.	.	UPI000023780E	SNV	HMGCLL1,missense_variant,p.Ser51Phe,ENST00000398661,;HMGCLL1,intron_variant,,ENST00000274901,;HMGCLL1,intron_variant,,ENST00000308161,;HMGCLL1,intron_variant,,ENST00000358072,;HMGCLL1,intron_variant,,ENST00000428842,;HMGCLL1,intron_variant,,ENST00000370850,;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,intron_variant,,ENST00000370852,;HMGCLL1,intron_variant,,ENST00000515546,;	284	113	97	SUCCESS
FUT10	84750	.	GRCh37	8	33318937	33318937	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	50	0	ENST00000327671.5:c.34T>C	p.Ser12Pro	p.S12P	ENST00000327671	NM_032664.3	12	Tct/Cct	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS6088.1	34	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGATGCCA	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF131,PIRSF_domain:PIRSF037332	.	.	ENSP00000332757	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000327671	Transcript	.	.	ENSG00000172728	19234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.023)	.	tolerated_low_confidence(0.17)	.	FUT10_HUMAN	FUT10	HGNC	.	.	UPI00001C0364	SNV	FUT10,missense_variant,p.Ser12Pro,ENST00000327671,;FUT10,5_prime_UTR_variant,,ENST00000524021,;FUT10,5_prime_UTR_variant,,ENST00000335589,;FUT10,intron_variant,,ENST00000518672,;FUT10,non_coding_transcript_exon_variant,,ENST00000520503,;FUT10,non_coding_transcript_exon_variant,,ENST00000416169,;FUT10,non_coding_transcript_exon_variant,,ENST00000520767,;	666	50	21	SUCCESS
RB1CC1	9821	.	GRCh37	8	53573155	53573155	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	191	479	0	ENST00000025008.5:c.1689+1G>A		p.X563_splice	ENST00000025008	NM_014781.4	563		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34892.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATACACAAA	NONE	.	.	.	.	.	ENSP00000025008	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000025008	Transcript	.	.	ENSG00000023287	15574	.	.	HIGH	12/23	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBCC1_HUMAN	RB1CC1	HGNC	E5RH63_HUMAN,B4DGF9_HUMAN	.	UPI0000DBEF23	SNV	RB1CC1,splice_donor_variant,,ENST00000025008,;RB1CC1,splice_donor_variant,,ENST00000539297,;RB1CC1,splice_donor_variant,,ENST00000435644,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,intron_variant,,ENST00000523594,;	.	479	275	SUCCESS
MIR124-2	406908	.	GRCh37	8	65291785	65291785	+	mature_miRNA_variant	RNA	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	33	103	0	ENST00000385081.1:n.80C>T		p.*27*	ENST00000385081				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGCCAAGA	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000385081	Transcript	.	.	ENSG00000207816	31503	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR124-2	HGNC	.	.	.	SNV	MIR124-2,non_coding_transcript_exon_variant,,ENST00000385081,;LINC00966,intron_variant,,ENST00000521441,;LINC00966,intron_variant,,ENST00000519741,;LINC00966,downstream_gene_variant,,ENST00000524284,;LINC00966,downstream_gene_variant,,ENST00000524060,;LINC00966,downstream_gene_variant,,ENST00000520799,;	80	103	132	SUCCESS
DEFB104A	140596	.	GRCh37	8	7698704	7698704	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	28	177	0	ENST00000314265.2:c.207T>A	p.Arg69=	p.R69=	ENST00000314265	NM_080389.2	69	cgT/cgA	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS34834.1	207	RADIA|VARSCANS	.	AATCGTACAAA	NONE	.	.	hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF13	.	.	ENSP00000320813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314265	Transcript	.	.	ENSG00000176782	18115	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	D104A_HUMAN	DEFB104A	HGNC	.	.	UPI000013F79C	SNV	DEFB104A,synonymous_variant,p.%3D,ENST00000314265,;	221	178	116	SUCCESS
TRIM14	9830	.	GRCh37	9	100849923	100849923	+	synonymous_variant	Silent	SNP	G	G	A	rs1409005229	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	78	0	ENST00000341469.2:c.1158C>T	p.Asp386=	p.D386=	ENST00000341469	NM_014788.2	386	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS6734.1	1158	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCGTCGCG	NONE	.	.	Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF35,hmmpanther:PTHR24103,PROSITE_profiles:PS50188,Low_complexity_(Seg):seg	.	.	ENSP00000344208	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000341469	Transcript	.	.	ENSG00000106785	16283	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI14_HUMAN	TRIM14	HGNC	.	.	UPI0000137065	SNV	TRIM14,synonymous_variant,p.%3D,ENST00000342043,;TRIM14,synonymous_variant,p.%3D,ENST00000375098,;TRIM14,synonymous_variant,p.%3D,ENST00000341469,;TRIM14,synonymous_variant,p.%3D,ENST00000538344,;NANS,downstream_gene_variant,,ENST00000210444,;TRIM14,non_coding_transcript_exon_variant,,ENST00000478530,;NANS,downstream_gene_variant,,ENST00000461452,;TRIM14,downstream_gene_variant,,ENST00000475147,;	1168	78	67	SUCCESS
SVEP1	79987	.	GRCh37	9	113252044	113252044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	36	114	0	ENST00000374469.1:c.1747C>A	p.His583Asn	p.H583N	ENST00000374469		583	Cat/Aat	0	.	.	.	.	.	T	H/N	protein_coding	YES	CCDS48004.1	1816	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGATGAACGT	NONE	.	.	Pfam_domain:PF02494,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,PROSITE_profiles:PS50825	.	.	ENSP00000384917	.	9/48	.	.	.	.	.	.	.	.	.	9/48	PASS	ENST00000401783	Transcript	.	.	ENSG00000165124	15985	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.102)	.	.	.	SVEP1_HUMAN	SVEP1	HGNC	.	.	UPI000153DA74	SNV	SVEP1,missense_variant,p.His606Asn,ENST00000401783,;SVEP1,missense_variant,p.His583Asn,ENST00000374469,;SVEP1,missense_variant,p.His606Asn,ENST00000302728,;SVEP1,missense_variant,p.His583Asn,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	2153	114	124	SUCCESS
BRINP1	1620	.	GRCh37	9	121929597	121929597	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	7	139	0	ENST00000265922.3:c.2051G>A	p.Gly684Asp	p.G684D	ENST00000265922	NM_014618.2	684	gGc/gAc	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS6822.1	2051	MUTECT|MUSE	.	ACTGGCCGCCC	NONE	.	.	hmmpanther:PTHR15564:SF7,hmmpanther:PTHR15564	.	.	ENSP00000265922	.	8/8	.	.	.	.	.	.	.	.	COSM319799	8/8	PASS	ENST00000265922	Transcript	.	.	ENSG00000078725	2687	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.076)	.	tolerated(0.17)	1	BRNP1_HUMAN	BRINP1	HGNC	B4DE75_HUMAN	.	UPI000013D6A7	SNV	BRINP1,missense_variant,p.Gly684Asp,ENST00000265922,;BRINP1,intron_variant,,ENST00000482797,;	2513	139	154	SUCCESS
MEGF9	1955	.	GRCh37	9	123370235	123370235	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	41	121	0	ENST00000373930.3:c.1141C>G	p.Pro381Ala	p.P381A	ENST00000373930	NM_001080497.2	381	Ccg/Gcg	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS48010.2	1141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCGGGCCTA	NONE	.	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Prints_domain:PR00011	.	.	ENSP00000363040	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000373930	Transcript	.	.	ENSG00000106780	3234	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	tolerated(0.23)	.	MEGF9_HUMAN	MEGF9	HGNC	.	.	UPI000045779F	SNV	MEGF9,missense_variant,p.Pro418Ala,ENST00000426959,;MEGF9,missense_variant,p.Pro381Ala,ENST00000373930,;	1253	121	121	SUCCESS
STRBP	55342	.	GRCh37	9	125920368	125920368	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	80	0	ENST00000348403.5:c.968A>G	p.Tyr323Cys	p.Y323C	ENST00000348403	NM_018387.4	323	tAc/tGc	0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS6851.1	968	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGTAAATC	NONE	.	.	PROSITE_profiles:PS51703,hmmpanther:PTHR10910:SF27,hmmpanther:PTHR10910,Pfam_domain:PF07528,SMART_domains:SM00572	.	.	ENSP00000415968	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000447404	Transcript	.	.	ENSG00000165209	16462	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.286)	.	deleterious(0.01)	.	STRBP_HUMAN	STRBP	HGNC	H0YD00_HUMAN,H0YC91_HUMAN,E9PKQ0_HUMAN	.	UPI00000467FD	SNV	STRBP,missense_variant,p.Tyr323Cys,ENST00000447404,;STRBP,missense_variant,p.Tyr309Cys,ENST00000360998,;STRBP,missense_variant,p.Tyr323Cys,ENST00000348403,;STRBP,3_prime_UTR_variant,,ENST00000407982,;	1273	80	64	SUCCESS
TOR1B	27348	.	GRCh37	9	132566402	132566402	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	42	88	0	ENST00000259339.2:c.250G>C	p.Glu84Gln	p.E84Q	ENST00000259339	NM_014506.1	84	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS6929.1	250	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGAAGTG	NONE	.	.	hmmpanther:PTHR10760:SF14,hmmpanther:PTHR10760,Gene3D:3.40.50.300,Pfam_domain:PF06309,PIRSF_domain:PIRSF038079,Superfamily_domains:SSF52540	.	.	ENSP00000259339	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000259339	Transcript	.	.	ENSG00000136816	11995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.098)	.	tolerated(0.33)	.	TOR1B_HUMAN	TOR1B	HGNC	.	.	UPI00001370F6	SNV	TOR1B,missense_variant,p.Glu84Gln,ENST00000259339,;TOR1B,missense_variant,p.Glu66Gln,ENST00000427860,;TOR1B,non_coding_transcript_exon_variant,,ENST00000486372,;TOR1B,upstream_gene_variant,,ENST00000488169,;	310	88	102	SUCCESS
FOCAD	54914	.	GRCh37	9	20986401	20986401	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs376770371	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	43	0	ENST00000338382.6:c.4843G>T	p.Val1615Leu	p.V1615L	ENST00000338382		1615	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS34993.1	4843	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGGTGTTG	NONE	byCluster	.	Pfam_domain:PF11229,hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4	.	.	ENSP00000369599	.	42/46	.	.	.	.	.	.	.	.	rs376770371	42/46	PASS	ENST00000380249	Transcript	.	.	ENSG00000188352	23377	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.43)	.	FOCAD_HUMAN	FOCAD	HGNC	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN	.	UPI00002111D4	SNV	FOCAD,missense_variant,p.Val1615Leu,ENST00000380249,;FOCAD,missense_variant,p.Val1051Leu,ENST00000605086,;FOCAD,missense_variant,p.Val1615Leu,ENST00000338382,;FOCAD,downstream_gene_variant,,ENST00000603631,;	5207	43	37	SUCCESS
UBAP2	55833	.	GRCh37	9	33935719	33935719	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	67	0	ENST00000360802.1:c.1969+118C>A		p.*657*	ENST00000360802	NM_018449.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6547.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGGCTGCT	NONE	.	.	.	.	.	ENSP00000368540	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379238	Transcript	.	.	ENSG00000137073	14185	.	.	MODIFIER	17/28	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBAP2_HUMAN	UBAP2	HGNC	Q5JV03_HUMAN	.	UPI0000140784	SNV	UBAP2,3_prime_UTR_variant,,ENST00000379225,;UBAP2,intron_variant,,ENST00000379238,;UBAP2,intron_variant,,ENST00000379239,;UBAP2,intron_variant,,ENST00000418786,;UBAP2,intron_variant,,ENST00000449054,;UBAP2,intron_variant,,ENST00000539807,;UBAP2,intron_variant,,ENST00000360802,;SNORD121B,upstream_gene_variant,,ENST00000458838,;UBAP2,upstream_gene_variant,,ENST00000474372,;UBAP2,intron_variant,,ENST00000488443,;	.	68	56	SUCCESS
SPATA31D3	389762	.	GRCh37	9	84564389	84564389	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs528077264	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	24	35	0	ENST00000334208.4:n.4248C>T		p.*1416*	ENST00000334208				0	.	T:0.0008	.	T:0	.	T	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCGAGTT	NONE	byFrequency|by1000G	.	.	T:0	.	.	T:0	.	.	.	.	.	.	.	.	.	rs528077264	.	PASS	ENST00000585776	Transcript	.	T:0.0006	ENSG00000267559	.	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	.	RP11-383M4.6	Clone_based_vega_gene	.	.	.	SNV	RP11-383M4.6,intron_variant,,ENST00000592744,;RP11-383M4.6,intron_variant,,ENST00000585776,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000334208,;SPATA31D3,non_coding_transcript_exon_variant,,ENST00000445385,;	.	35	47	SUCCESS
FRMPD4	9758	.	GRCh37	X	12632900	12632900	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	52	163	0	ENST00000380682.1:c.322G>A	p.Gly108Ser	p.G108S	ENST00000380682	NM_014728.3	108	Ggc/Agc	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS35201.1	322	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTGGCCCC	NONE	.	.	Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3,PROSITE_profiles:PS50106	.	.	ENSP00000370057	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000380682	Transcript	.	.	ENSG00000169933	29007	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.06)	.	FRPD4_HUMAN	FRMPD4	HGNC	.	.	UPI00001C2066	SNV	FRMPD4,missense_variant,p.Gly108Ser,ENST00000380682,;7SK,upstream_gene_variant,,ENST00000606842,;	828	163	127	SUCCESS
ATRX	546	.	GRCh37	X	76938720	76938720	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	34	79	0	ENST00000373344.5:c.2028T>C	p.Asn676=	p.N676=	ENST00000373344	NM_000489.3	676	aaT/aaC	0	.	.	.	.	.	G	N	protein_coding	YES	CCDS14434.1	2028	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAATTAGA	NONE	.	.	hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799	.	.	ENSP00000362441	.	9/35	.	.	.	.	.	.	.	.	.	9/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,synonymous_variant,p.%3D,ENST00000395603,;ATRX,synonymous_variant,p.%3D,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;	2243	79	94	SUCCESS
ERLIN1	10613	.	GRCh37	10	101945277	101945277	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	24	136	0	ENST00000407654.3:c.107A>T	p.Tyr36Phe	p.Y36F	ENST00000407654		36	tAc/tTc	0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS7487.2	107	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGTACACA	NONE	.	.	hmmpanther:PTHR15351:SF2,hmmpanther:PTHR15351,Pfam_domain:PF01145,SMART_domains:SM00244	.	.	ENSP00000410964	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000421367	Transcript	1	.	ENSG00000107566	16947	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.954)	.	deleterious(0.01)	.	ERLN1_HUMAN	ERLIN1	HGNC	D3DR65_HUMAN,B0QZ43_HUMAN	.	UPI0000155AF8	SNV	ERLIN1,missense_variant,p.Tyr36Phe,ENST00000370408,;ERLIN1,missense_variant,p.Tyr36Phe,ENST00000421367,;ERLIN1,missense_variant,p.Tyr36Phe,ENST00000407654,;CHUK,downstream_gene_variant,,ENST00000370397,;RP11-316M21.7,upstream_gene_variant,,ENST00000443919,;CHUK,downstream_gene_variant,,ENST00000588656,;CHUK,downstream_gene_variant,,ENST00000590930,;	2815	136	120	SUCCESS
C10orf88	80007	.	GRCh37	10	124712495	124712495	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	26	141	0	ENST00000481909.1:c.218G>A	p.Cys73Tyr	p.C73Y	ENST00000481909	NM_024942.3	73	tGc/tAc	0	.	.	.	.	.	T	C/Y	protein_coding	YES	CCDS7632.1	218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGCAGGGG	NONE	.	.	hmmpanther:PTHR14787,Pfam_domain:PF14958	.	.	ENSP00000419126	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000481909	Transcript	.	.	ENSG00000119965	25822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.911)	.	deleterious(0)	.	CJ088_HUMAN	C10orf88	HGNC	.	.	UPI000006CF9E	SNV	C10orf88,missense_variant,p.Cys73Tyr,ENST00000481909,;C10orf88,non_coding_transcript_exon_variant,,ENST00000368891,;PSTK,upstream_gene_variant,,ENST00000465232,;C10orf88,upstream_gene_variant,,ENST00000470158,;	443	141	121	SUCCESS
FAM196A	0	.	GRCh37	10	128973669	128973669	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	12	60	0	ENST00000522781.1:c.991C>T	p.Leu331=	p.L331=	ENST00000522781	NM_001039762.2	331	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS31312.1	991	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGCCCCG	NONE	.	.	Pfam_domain:PF15265	.	.	ENSP00000429763	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000522781	Transcript	.	.	ENSG00000188916	33859	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F196A_HUMAN	FAM196A	HGNC	.	.	UPI00001C0E37	SNV	FAM196A,synonymous_variant,p.%3D,ENST00000522781,;FAM196A,synonymous_variant,p.%3D,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,;	1547	60	60	SUCCESS
YME1L1	10730	.	GRCh37	10	27406578	27406578	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	13	90	0	ENST00000326799.3:c.1817T>G	p.Ile606Ser	p.I606S	ENST00000326799	NM_139312.2	606	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS7152.1	1817	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCAATAATG	NONE	.	.	HAMAP:MF_01458,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF37,Pfam_domain:PF01434,TIGRFAM_domain:TIGR01241,Superfamily_domains:SSF140990	.	.	ENSP00000318480	.	16/20	.	.	.	.	.	.	.	.	.	16/20	PASS	ENST00000326799	Transcript	.	.	ENSG00000136758	12843	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.821)	.	deleterious(0)	.	YMEL1_HUMAN	YME1L1	HGNC	.	.	UPI000013DBDD	SNV	YME1L1,missense_variant,p.Ile606Ser,ENST00000326799,;YME1L1,missense_variant,p.Ile516Ser,ENST00000375972,;YME1L1,missense_variant,p.Ile549Ser,ENST00000376016,;	1966	90	104	SUCCESS
LIPF	8513	.	GRCh37	10	90438430	90438430	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	22	63	0	ENST00000238983.4:c.1189A>T	p.Lys397Ter	p.K397*	ENST00000238983	NM_004190.3	397	Aaa/Taa	0	.	.	.	.	.	T	K/*	protein_coding	YES	CCDS55718.1	1219	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATAAAAAG	NONE	.	.	hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF25,PIRSF_domain:PIRSF000862	.	.	ENSP00000377900	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000394375	Transcript	.	.	ENSG00000182333	6622	.	.	HIGH	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIPG_HUMAN	LIPF	HGNC	.	.	UPI0001E92A2A	SNV	LIPF,stop_gained,p.Lys397Ter,ENST00000238983,;LIPF,stop_gained,p.Lys374Ter,ENST00000355843,;LIPF,stop_gained,p.Lys364Ter,ENST00000608620,;LIPF,stop_gained,p.Lys407Ter,ENST00000394375,;LIPF,downstream_gene_variant,,ENST00000496797,;	1332	63	77	SUCCESS
ZC3H12C	85463	.	GRCh37	11	110007343	110007343	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	67	0	ENST00000278590.3:c.22-45C>T		p.*8*	ENST00000278590	NM_033390.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44727.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCTAGCC	NONE	.	.	.	.	.	ENSP00000278590	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000278590	Transcript	.	.	ENSG00000149289	29362	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC12C_HUMAN	ZC3H12C	HGNC	E9PP00_HUMAN	.	UPI0000DD80B8	SNV	ZC3H12C,5_prime_UTR_variant,,ENST00000453089,;ZC3H12C,intron_variant,,ENST00000278590,;ZC3H12C,intron_variant,,ENST00000528673,;	.	67	43	SUCCESS
TRIM29	23650	.	GRCh37	11	119996560	119996560	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs200991578	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	111	0	ENST00000341846.5:c.1172C>T	p.Pro391Leu	p.P391L	ENST00000341846	NM_012101.3	391	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS8428.1	1172	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGTGGGGGG	NONE	.	.	hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF240	.	.	ENSP00000343129	.	4/9	.	.	.	.	.	.	.	.	.	4/9	PASS	ENST00000341846	Transcript	.	.	ENSG00000137699	17274	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.77)	.	deleterious(0.01)	.	TRI29_HUMAN	TRIM29	HGNC	E9PM74_HUMAN,E9PLI4_HUMAN,E9PJ94_HUMAN,E9PIQ2_HUMAN,E9PI31_HUMAN,B7Z5V8_HUMAN	.	UPI0000073FDE	SNV	TRIM29,missense_variant,p.Pro124Leu,ENST00000541857,;TRIM29,missense_variant,p.Pro391Leu,ENST00000341846,;TRIM29,missense_variant,p.Pro130Leu,ENST00000529044,;TRIM29,upstream_gene_variant,,ENST00000524816,;TRIM29,upstream_gene_variant,,ENST00000533302,;TRIM29,upstream_gene_variant,,ENST00000524956,;TRIM29,upstream_gene_variant,,ENST00000525327,;TRIM29,upstream_gene_variant,,ENST00000528870,;TRIM29,upstream_gene_variant,,ENST00000526881,;TRIM29,upstream_gene_variant,,ENST00000525887,;TRIM29,3_prime_UTR_variant,,ENST00000475051,;TRIM29,non_coding_transcript_exon_variant,,ENST00000530470,;TRIM29,downstream_gene_variant,,ENST00000532195,;TRIM29,upstream_gene_variant,,ENST00000531555,;	1594	112	88	SUCCESS
NAV2	89797	.	GRCh37	11	19955146	19955146	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	39	128	0	ENST00000396087.3:c.1425G>C	p.Val475=	p.V475=	ENST00000396087	NM_001244963.1	475	gtG/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS58126.1	1425	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGTGGGCCC	NONE	.	.	hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	8/41	.	.	.	.	.	.	.	.	.	8/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,synonymous_variant,p.%3D,ENST00000396085,;NAV2,synonymous_variant,p.%3D,ENST00000360655,;NAV2,synonymous_variant,p.%3D,ENST00000540292,;NAV2,synonymous_variant,p.%3D,ENST00000527559,;NAV2,synonymous_variant,p.%3D,ENST00000349880,;NAV2,synonymous_variant,p.%3D,ENST00000396087,;NAV2,non_coding_transcript_exon_variant,,ENST00000528008,;	1524	128	122	SUCCESS
NAV2	89797	.	GRCh37	11	19955147	19955147	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs779065804	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	40	126	0	ENST00000396087.3:c.1426G>T	p.Gly476Cys	p.G476C	ENST00000396087	NM_001244963.1	476	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS58126.1	1426	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGGCCCT	NONE	.	.	hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	.	.	ENSP00000379396	.	8/41	.	.	.	.	.	.	.	.	rs779065804	8/41	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.895)	.	deleterious(0)	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,missense_variant,p.Gly453Cys,ENST00000396085,;NAV2,missense_variant,p.Gly389Cys,ENST00000360655,;NAV2,missense_variant,p.Gly407Cys,ENST00000540292,;NAV2,missense_variant,p.Gly405Cys,ENST00000527559,;NAV2,missense_variant,p.Gly453Cys,ENST00000349880,;NAV2,missense_variant,p.Gly476Cys,ENST00000396087,;NAV2,non_coding_transcript_exon_variant,,ENST00000528008,;	1525	126	122	SUCCESS
OR4C15	81309	.	GRCh37	11	55322138	55322138	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	38	0	ENST00000314644.2:c.356T>A	p.Leu119Gln	p.L119Q	ENST00000314644	NM_001001920.1	119	cTg/cAg	0	.	.	.	.	.	A	L/Q	protein_coding	YES	CCDS31501.1	356	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGTCCT	BUFFER|p.L116V|c.346T>G|4,BUFFER|p.L116L|c.346T>C|3	.	.	Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF14,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	.	.	ENSP00000324958	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314644	Transcript	.	.	ENSG00000181939	15171	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	OR4CF_HUMAN	OR4C15	HGNC	.	.	UPI00003B288E	SNV	OR4C15,missense_variant,p.Leu119Gln,ENST00000314644,;	356	38	41	SUCCESS
TRIM5	85363	.	GRCh37	11	5686301	5686301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	89	0	ENST00000380034.3:c.1220G>T	p.Gly407Val	p.G407V	ENST00000380034	NM_033034.2	407	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS31393.1	1220	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACTCCTTCC	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF49,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	.	.	ENSP00000369373	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000380034	Transcript	.	.	ENSG00000132256	16276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.148)	.	tolerated(0.12)	.	TRIM5_HUMAN	TRIM5	HGNC	L7REZ6_HUMAN,L7RET5_HUMAN,E7EQQ5_HUMAN,D8L201_HUMAN,C9JWN8_HUMAN	.	UPI00000717A7	SNV	TRIM5,missense_variant,p.Gly407Val,ENST00000380034,;TRIM5,missense_variant,p.Gly407Val,ENST00000305836,;TRIM5,3_prime_UTR_variant,,ENST00000396847,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000438025,;TRIM5,intron_variant,,ENST00000396853,;TRIM5,intron_variant,,ENST00000396855,;TRIM5,intron_variant,,ENST00000483835,;TRIM5,downstream_gene_variant,,ENST00000465634,;TRIM5,downstream_gene_variant,,ENST00000492086,;TRIM5,3_prime_UTR_variant,,ENST00000433961,;	1477	89	68	SUCCESS
SERPING1	710	.	GRCh37	11	57367761	57367761	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs281875168	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	20	125	0	ENST00000278407.4:c.461A>C	p.Tyr154Ser	p.Y154S	ENST00000278407	NM_000062.2	154	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS7962.1	461	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	not_provided	GCTCTACCACG	BUFFER|p.A156T|c.466G>A|3	.	.	hmmpanther:PTHR11461:SF156,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000278407	.	3/8	.	.	.	.	.	.	.	.	rs281875168,CM117767,COSM1298212	3/8	PASS	ENST00000278407	Transcript	.	.	ENSG00000149131	1228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	22994404	probably_damaging(0.995)	.	deleterious(0)	0,0,1	IC1_HUMAN	SERPING1	HGNC	E9KL26_HUMAN,B5MCB9_HUMAN,B4E1H2_HUMAN	.	UPI000000123F	SNV	SERPING1,missense_variant,p.Tyr154Ser,ENST00000278407,;SERPING1,missense_variant,p.Tyr188Ser,ENST00000403558,;SERPING1,missense_variant,p.Tyr102Ser,ENST00000378324,;SERPING1,missense_variant,p.Tyr154Ser,ENST00000340687,;SERPING1,missense_variant,p.Tyr154Ser,ENST00000405496,;SERPING1,missense_variant,p.Tyr159Ser,ENST00000378323,;SERPING1,downstream_gene_variant,,ENST00000457869,;SERPING1,upstream_gene_variant,,ENST00000531605,;SERPING1,intron_variant,,ENST00000531797,;SERPING1,intron_variant,,ENST00000531133,;	688	126	94	SUCCESS
OSBP	5007	.	GRCh37	11	59345631	59345631	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	33	119	0	ENST00000263847.1:c.2051A>T	p.Asn684Ile	p.N684I	ENST00000263847	NM_002556.2	684	aAt/aTt	0	.	.	.	.	.	A	N/I	protein_coding	YES	CCDS7974.1	2051	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGATTCCTT	NONE	.	.	hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF52,Pfam_domain:PF01237,Superfamily_domains:0051579	.	.	ENSP00000263847	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000263847	Transcript	.	.	ENSG00000110048	8503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.843)	.	tolerated(0.37)	.	OSBP1_HUMAN	OSBP	HGNC	B4DR25_HUMAN	.	UPI0000130EAF	SNV	OSBP,missense_variant,p.Asn684Ile,ENST00000263847,;OSBP,3_prime_UTR_variant,,ENST00000525357,;	2531	119	86	SUCCESS
CD6	923	.	GRCh37	11	60739363	60739363	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	43	0	ENST00000313421.7:c.26G>T	p.Gly9Val	p.G9V	ENST00000313421	NM_006725.4	9	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS7999.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGGATTGC	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000323280	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000313421	Transcript	.	.	ENSG00000013725	1691	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.274)	.	deleterious(0)	.	CD6_HUMAN	CD6	HGNC	.	.	UPI000013F532	SNV	CD6,missense_variant,p.Gly9Val,ENST00000346437,;CD6,missense_variant,p.Gly9Val,ENST00000452451,;CD6,missense_variant,p.Gly9Val,ENST00000313421,;CD6,missense_variant,p.Gly9Val,ENST00000344028,;CD6,missense_variant,p.Gly9Val,ENST00000433107,;CD6,missense_variant,p.Gly9Val,ENST00000542157,;CD6,missense_variant,p.Gly9Val,ENST00000352009,;CD6,non_coding_transcript_exon_variant,,ENST00000545105,;CD6,non_coding_transcript_exon_variant,,ENST00000545320,;CD6,missense_variant,p.Gly9Val,ENST00000542254,;CD6,missense_variant,p.Gly9Val,ENST00000344931,;	212	43	33	SUCCESS
CNTN5	53942	.	GRCh37	11	99426911	99426911	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	18	87	0	ENST00000524871.1:c.-35A>G		p.*12*	ENST00000524871	NM_014361.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53696.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAAACACAT	NONE	.	.	.	.	.	ENSP00000435637	.	3/25	.	.	.	.	.	.	.	.	.	3/25	PASS	ENST00000524871	Transcript	.	.	ENSG00000149972	2175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTN5_HUMAN	CNTN5	HGNC	B4DGP0_HUMAN	.	UPI000006DAB0	SNV	CNTN5,5_prime_UTR_variant,,ENST00000524871,;CNTN5,5_prime_UTR_variant,,ENST00000528682,;CNTN5,5_prime_UTR_variant,,ENST00000527185,;CNTN5,5_prime_UTR_variant,,ENST00000530458,;CNTN5,5_prime_UTR_variant,,ENST00000418526,;CNTN5,upstream_gene_variant,,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	256	87	76	SUCCESS
STAB2	55576	.	GRCh37	12	104155082	104155082	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	20	80	0	ENST00000388887.2:c.7253A>C	p.Glu2418Ala	p.E2418A	ENST00000388887	NM_017564.9	2418	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS31888.1	7253	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGAGACCA	BUFFER|p.T2417M|c.7250C>T|4,BUFFER|p.T2417T|c.7251G>T|5	.	.	PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,Superfamily_domains:SSF82153	.	.	ENSP00000373539	.	66/69	.	.	.	.	.	.	.	.	.	66/69	PASS	ENST00000388887	Transcript	.	.	ENSG00000136011	18629	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.596)	.	tolerated(0.24)	.	STAB2_HUMAN	STAB2	HGNC	H0YIF3_HUMAN	.	UPI00001ADDF4	SNV	STAB2,missense_variant,p.Glu2418Ala,ENST00000388887,;STAB2,upstream_gene_variant,,ENST00000552777,;RP11-341G23.4,intron_variant,,ENST00000551299,;RP11-341G23.4,downstream_gene_variant,,ENST00000550029,;STAB2,non_coding_transcript_exon_variant,,ENST00000548579,;STAB2,downstream_gene_variant,,ENST00000548073,;	7457	80	78	SUCCESS
TDG	6996	.	GRCh37	12	104378700	104378700	+	splice_donor_variant	Splice_Site	SNP	T	T	A	rs760400700	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	39	111	0	ENST00000392872.3:c.964+2T>A		p.X322_splice	ENST00000392872	NM_003211.4	322		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9095.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGTATGTT	NONE	byFrequency	.	.	.	.	ENSP00000376611	.	.	.	.	.	.	.	.	.	.	rs760400700	.	PASS	ENST00000392872	Transcript	.	.	ENSG00000139372	11700	.	.	HIGH	8/9	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TDG_HUMAN	TDG	HGNC	F5H539_HUMAN,B4E127_HUMAN	.	UPI00000740E5	SNV	TDG,splice_donor_variant,,ENST00000542036,;TDG,splice_donor_variant,,ENST00000544861,;TDG,splice_donor_variant,,ENST00000266775,;TDG,splice_donor_variant,,ENST00000392872,;GLT8D2,downstream_gene_variant,,ENST00000548660,;GLT8D2,downstream_gene_variant,,ENST00000360814,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;GLT8D2,downstream_gene_variant,,ENST00000546436,;AC078819.1,upstream_gene_variant,,ENST00000401157,;TDG,upstream_gene_variant,,ENST00000536395,;TDG,splice_donor_variant,,ENST00000542926,;TDG,splice_donor_variant,,ENST00000540956,;TDG,downstream_gene_variant,,ENST00000545698,;TDG,downstream_gene_variant,,ENST00000544060,;	.	111	143	SUCCESS
NOC4L	79050	.	GRCh37	12	132636036	132636036	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs554287010	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	34	0	ENST00000330579.1:c.1081C>T	p.Pro361Ser	p.P361S	ENST00000330579	NM_024078.1	361	Ccc/Tcc	0	.	A:0	.	A:0	.	T	P/S	protein_coding	YES	CCDS9277.1	1081	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCCCGCC	NONE	byFrequency|by1000G	.	Superfamily_domains:SSF48371,Pfam_domain:PF03914,hmmpanther:PTHR12455:SF0,hmmpanther:PTHR12455	A:0	.	ENSP00000328854	A:0	12/15	.	.	.	.	.	.	.	.	rs554287010,COSM1706468	12/15	PASS	ENST00000330579	Transcript	.	A:0.0006	ENSG00000184967	28461	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(1)	A:0.0031	deleterious(0)	0,1	NOC4L_HUMAN	NOC4L	HGNC	F5H5K6_HUMAN	.	UPI00000723C4	SNV	NOC4L,missense_variant,p.Pro361Ser,ENST00000330579,;NOC4L,5_prime_UTR_variant,,ENST00000538784,;NOC4L,downstream_gene_variant,,ENST00000541954,;NOC4L,non_coding_transcript_exon_variant,,ENST00000535343,;	1122	34	24	SUCCESS
PDE3A	5139	.	GRCh37	12	20833072	20833072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs764611561	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	95	364	1	ENST00000359062.3:c.3293G>A	p.Gly1098Asp	p.G1098D	ENST00000359062	NM_001244683.1	1098	gGc/gAc	0	.	.	.	.	.	A	G/D	protein_coding	YES	CCDS31754.1	3293	RADIA|SOMATICSNIPER|VARSCANS	.	GGCAGGCATAG	NONE	byFrequency	.	hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347	.	.	ENSP00000351957	.	16/16	.	.	.	.	.	.	.	.	rs764611561	16/16	PASS	ENST00000359062	Transcript	.	.	ENSG00000172572	8778	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.009)	.	deleterious(0.03)	.	PDE3A_HUMAN	PDE3A	HGNC	.	.	UPI000014175F	SNV	PDE3A,missense_variant,p.Gly1098Asp,ENST00000359062,;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	3333	366	349	SUCCESS
CNTN1	1272	.	GRCh37	12	41312465	41312465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	228	62	259	0	ENST00000347616.1:c.119G>T	p.Gly40Val	p.G40V	ENST00000347616		40	gGa/gTa	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS8737.1	119	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGACCAA	NONE	.	.	Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531	.	.	ENSP00000447006	.	4/24	.	.	.	.	.	.	.	.	.	4/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,missense_variant,p.Gly40Val,ENST00000347616,;CNTN1,missense_variant,p.Gly40Val,ENST00000552913,;CNTN1,missense_variant,p.Gly29Val,ENST00000348761,;CNTN1,missense_variant,p.Gly40Val,ENST00000551295,;CNTN1,missense_variant,p.Gly40Val,ENST00000360099,;CNTN1,missense_variant,p.Gly40Val,ENST00000552248,;CNTN1,missense_variant,p.Gly40Val,ENST00000547702,;CNTN1,missense_variant,p.Gly40Val,ENST00000551424,;CNTN1,missense_variant,p.Gly40Val,ENST00000548005,;CNTN1,missense_variant,p.Gly40Val,ENST00000547849,;	236	259	290	SUCCESS
KRT73	319101	.	GRCh37	12	53012005	53012005	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs199866943	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	35	152	0	ENST00000305748.3:c.304G>T	p.Gly102Trp	p.G102W	ENST00000305748	NM_175068.2	102	Ggg/Tgg	0	.	T:0.0008	.	T:0	.	A	G/W	protein_coding	YES	CCDS8834.1	304	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCGGGCG	BUFFER|p.P100L|c.299C>T|4	byCluster|by1000G	.	hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122	T:0	.	ENSP00000307014	T:0	1/9	.	.	.	.	.	.	.	.	rs199866943,COSM297434	1/9	PASS	ENST00000305748	Transcript	.	T:0.0002	ENSG00000186049	28928	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.998)	T:0	deleterious(0)	0,1	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,missense_variant,p.Gly102Trp,ENST00000305748,;KRT73,upstream_gene_variant,,ENST00000552855,;RP11-641A6.2,downstream_gene_variant,,ENST00000549180,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;RP11-641A6.2,downstream_gene_variant,,ENST00000552364,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	339	152	113	SUCCESS
KRT79	338785	.	GRCh37	12	53225249	53225249	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	75	0	ENST00000330553.5:c.639G>T	p.Arg213=	p.R213=	ENST00000330553	NM_175834.2	213	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS8839.1	639	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCCGCTC	NONE	.	.	Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000328358	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000330553	Transcript	.	.	ENSG00000185640	28930	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C79_HUMAN	KRT79	HGNC	.	.	UPI0000198204	SNV	KRT79,synonymous_variant,p.%3D,ENST00000330553,;KRT79,upstream_gene_variant,,ENST00000546453,;	674	75	55	SUCCESS
HMGA2	8091	.	GRCh37	12	66345235	66345235	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	449	34	446	1	ENST00000403681.2:c.282+40A>T		p.*94*	ENST00000403681	NM_003483.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44936.1	.	MUTECT|MUSE	.	AATATAAAAAG	NONE	.	.	.	.	.	ENSP00000384026	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000403681	Transcript	.	.	ENSG00000149948	5009	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMGA2_HUMAN	HMGA2	HGNC	Q8IZX8_HUMAN,B2KX87_HUMAN	.	UPI0000000CE6	SNV	HMGA2,3_prime_UTR_variant,,ENST00000541363,;HMGA2,intron_variant,,ENST00000393577,;HMGA2,intron_variant,,ENST00000403681,;RP11-366L20.3,upstream_gene_variant,,ENST00000544279,;HMGA2,intron_variant,,ENST00000539662,;	.	447	483	SUCCESS
LEPREL2	0	.	GRCh37	12	6946909	6946909	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs1346030784	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	90	0	ENST00000290510.8:n.1258G>A		p.*420*	ENST00000290510		574		0	.	.	.	.	.	A	Q	protein_coding	YES	.	1722	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCAGCGCAT	NONE	.	.	SMART_domains:SM00702,hmmpanther:PTHR14049:SF14,hmmpanther:PTHR14049,PROSITE_profiles:PS51471	.	.	ENSP00000379951	.	13/16	.	.	.	.	.	.	.	.	.	13/16	PASS	ENST00000396725	Transcript	.	.	ENSG00000110811	19318	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	LEPREL2	HGNC	G8JLI6_HUMAN	.	UPI00001AF55A	SNV	LEPREL2,synonymous_variant,p.%3D,ENST00000251761,;LEPREL2,synonymous_variant,p.%3D,ENST00000396725,;GNB3,upstream_gene_variant,,ENST00000435982,;GNB3,upstream_gene_variant,,ENST00000541257,;GNB3,upstream_gene_variant,,ENST00000229264,;GNB3,upstream_gene_variant,,ENST00000537035,;GNB3,upstream_gene_variant,,ENST00000541978,;LEPREL2,downstream_gene_variant,,ENST00000538102,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000290510,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000536140,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544200,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000540406,;LEPREL2,downstream_gene_variant,,ENST00000544949,;GNB3,upstream_gene_variant,,ENST00000540458,;GNB3,upstream_gene_variant,,ENST00000542868,;LEPREL2,downstream_gene_variant,,ENST00000541956,;LEPREL2,downstream_gene_variant,,ENST00000545596,;LEPREL2,downstream_gene_variant,,ENST00000542976,;GNB3,upstream_gene_variant,,ENST00000539127,;LEPREL2,missense_variant,p.Ser575Asn,ENST00000606935,;	1756	90	69	SUCCESS
E2F7	144455	.	GRCh37	12	77444515	77444515	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	56	0	ENST00000322886.7:c.379G>T	p.Val127Phe	p.V127F	ENST00000322886	NM_203394.2	127	Gtt/Ttt	0	.	.	.	.	.	A	V/F	protein_coding	YES	CCDS9016.1	379	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAACAACAT	NONE	.	.	hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25	.	.	ENSP00000323246	.	4/13	.	.	.	.	.	.	.	.	.	4/13	PASS	ENST00000322886	Transcript	.	.	ENSG00000165891	23820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.779)	.	deleterious(0.03)	.	E2F7_HUMAN	E2F7	HGNC	F8VXV5_HUMAN,F8VSE7_HUMAN	.	UPI00001B64A1	SNV	E2F7,missense_variant,p.Val127Phe,ENST00000416496,;E2F7,missense_variant,p.Val127Phe,ENST00000322886,;E2F7,missense_variant,p.Val127Phe,ENST00000550669,;E2F7,missense_variant,p.Val5Phe,ENST00000551058,;E2F7,missense_variant,p.Val3Phe,ENST00000552907,;E2F7,non_coding_transcript_exon_variant,,ENST00000551558,;	615	56	37	SUCCESS
ITGBL1	9358	.	GRCh37	13	102235651	102235651	+	synonymous_variant	Silent	SNP	T	T	C	.	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	23	133	0	ENST00000376180.3:c.813T>C	p.Cys271=	p.C271=	ENST00000376180	NM_004791.2	271	tgT/tgC	0	.	.	.	.	.	C	C	protein_coding	YES	CCDS9499.1	813	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGTGATGA	NONE	.	.	hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF3,Gene3D:2.10.25.10	.	.	ENSP00000365351	.	6/11	.	.	.	.	.	.	.	.	COSM1300002	6/11	PASS	ENST00000376180	Transcript	.	.	ENSG00000198542	6164	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ITGBL_HUMAN	ITGBL1	HGNC	B3KTP1_HUMAN	.	UPI0000073C95	SNV	ITGBL1,synonymous_variant,p.%3D,ENST00000376162,;ITGBL1,synonymous_variant,p.%3D,ENST00000376180,;ITGBL1,synonymous_variant,p.%3D,ENST00000545560,;	1032	133	97	SUCCESS
ATP8A2	51761	.	GRCh37	13	26594029	26594029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	19	98	0	ENST00000381655.2:c.3473G>T	p.Gly1158Val	p.G1158V	ENST00000381655	NM_016529.4	1158	gGg/gTg	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS41873.1	3473	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGGTATG	NONE	.	.	hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092	.	.	ENSP00000371070	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000381655	Transcript	.	.	ENSG00000132932	13533	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	AT8A2_HUMAN	ATP8A2	HGNC	.	.	UPI0000229592	SNV	ATP8A2,missense_variant,p.Gly1093Val,ENST00000255283,;ATP8A2,missense_variant,p.Gly1158Val,ENST00000381655,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	3615	98	63	SUCCESS
DCLK1	9201	.	GRCh37	13	36699999	36699999	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	32	117	1	ENST00000360631.3:c.276C>A	p.Thr92=	p.T92=	ENST00000360631		92	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9354.1	276	RADIA|MUTECT|MUSE|VARSCANS	.	GTTCGGGTCAA	BUFFER|p.R93Q|c.278G>A|3	.	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Gene3D:1mfwA00,Pfam_domain:PF03607,hmmpanther:PTHR24347:SF123,hmmpanther:PTHR24347,PROSITE_profiles:PS50309	.	.	ENSP00000255448	.	2/18	.	.	.	.	.	.	.	.	.	2/18	PASS	ENST00000255448	Transcript	.	.	ENSG00000133083	2700	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCLK1_HUMAN	DCLK1	HGNC	.	.	UPI000002A7C2	SNV	DCLK1,synonymous_variant,p.%3D,ENST00000360631,;DCLK1,synonymous_variant,p.%3D,ENST00000255448,;DCLK1,synonymous_variant,p.%3D,ENST00000379892,;	488	119	108	SUCCESS
ELF1	1997	.	GRCh37	13	41507803	41507803	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs538458962	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	84	0	ENST00000239882.3:c.1618C>T	p.Arg540Cys	p.R540C	ENST00000239882	NM_172373.3	540	Cgc/Tgc	0	.	A:0	.	A:0	.	A	R/C	protein_coding	YES	CCDS9374.1	1618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGAGGAG	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000239882	A:0	9/9	.	.	.	.	.	.	.	.	rs538458962	9/9	PASS	ENST00000239882	Transcript	.	A:0.0006	ENSG00000120690	3316	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.582)	A:0.0031	deleterious(0.03)	.	ELF1_HUMAN	ELF1	HGNC	Q6MZZ4_HUMAN,Q5T9E7_HUMAN,B3KTE9_HUMAN	.	UPI000007071F	SNV	ELF1,missense_variant,p.Arg540Cys,ENST00000239882,;ELF1,missense_variant,p.Arg516Cys,ENST00000442101,;ELF1,non_coding_transcript_exon_variant,,ENST00000498824,;	1933	84	69	SUCCESS
IGHV3-23	28442	.	GRCh37	14	106725376	106725376	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs552323116	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	227	43	261	0	ENST00000390609.2:c.176C>T	p.Ala59Val	p.A59V	ENST00000390609		59	gCt/gTt	0	.	A:0	.	A:0	.	A	A/V	IG_V_gene	YES	.	176	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGCCTGG	NONE	by1000G	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726	A:0	.	ENSP00000375018	A:0	2/2	.	.	.	.	.	.	.	.	rs552323116	2/2	PASS	ENST00000390609	Transcript	.	A:0.0002	ENSG00000211949	5588	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.316)	A:0.001	deleterious_low_confidence(0.02)	.	.	IGHV3-23	HGNC	.	.	UPI0000113BD6	SNV	IGHV3-23,missense_variant,p.Ala59Val,ENST00000390609,;IGHVIII-22-2,upstream_gene_variant,,ENST00000518246,;	255	261	270	SUCCESS
OR4K15	81127	.	GRCh37	14	20444000	20444000	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	77	0	ENST00000305051.5:c.323A>G	p.Asp108Gly	p.D108G	ENST00000305051	NM_001005486.1	108	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS32026.1	323	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGACTTTC	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF287,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000304077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305051	Transcript	.	.	ENSG00000169488	15353	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.118)	.	deleterious(0)	.	OR4KF_HUMAN	OR4K15	HGNC	.	.	UPI000015F249	SNV	OR4K15,missense_variant,p.Asp108Gly,ENST00000305051,;	398	78	72	SUCCESS
KLHL33	123103	.	GRCh37	14	20897109	20897109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	15	91	0	ENST00000344581.4:c.1501C>T	p.Pro501Ser	p.P501S	ENST00000344581	NM_001109997.2	501	Cca/Tca	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS53882.1	1501	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGGCAGAG	NONE	.	.	hmmpanther:PTHR24412:SF158,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	.	.	ENSP00000341549	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000344581	Transcript	.	.	ENSG00000185271	31952	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KLH33_HUMAN	KLHL33	HGNC	B2RUZ8_HUMAN	.	UPI00016630E8	SNV	KLHL33,missense_variant,p.Pro501Ser,ENST00000344581,;	1724	91	70	SUCCESS
AP4S1	11154	.	GRCh37	14	31554030	31554030	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	280	23	319	0	ENST00000542754.2:c.306+4240G>T		p.*102*	ENST00000542754	NM_001128126.2	141		0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS9642.1	422	MUTECT|MUSE	.	GACTTGCTTTT	NONE	.	.	PIRSF_domain:PIRSF015588	.	.	ENSP00000216366	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216366	Transcript	.	.	ENSG00000100478	575	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.102)	.	deleterious_low_confidence(0.03)	.	AP4S1_HUMAN	AP4S1	HGNC	G3V4P7_HUMAN	.	UPI000007194F	SNV	AP4S1,missense_variant,p.Cys117Phe,ENST00000554345,;AP4S1,missense_variant,p.Cys141Phe,ENST00000216366,;AP4S1,3_prime_UTR_variant,,ENST00000334725,;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000542754,;AP4S1,intron_variant,,ENST00000554609,;	630	319	303	SUCCESS
SSTR1	6751	.	GRCh37	14	38678565	38678565	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	56	0	ENST00000267377.2:c.-30T>A		p.*10*	ENST00000267377	NM_001049.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9666.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCTGGCAG	NONE	.	.	.	.	.	ENSP00000267377	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000267377	Transcript	.	.	ENSG00000139874	11330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSR1_HUMAN	SSTR1	HGNC	.	.	UPI0000001C3C	SNV	SSTR1,5_prime_UTR_variant,,ENST00000267377,;	588	56	49	SUCCESS
ACTN1	87	.	GRCh37	14	69358837	69358837	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	116	0	ENST00000193403.6:c.1019C>T	p.Thr340Met	p.T340M	ENST00000193403	NM_001102.3	340	aCg/aTg	0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS45130.1	1019	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGTGTTG	NONE	.	.	hmmpanther:PTHR11915:SF241,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,Superfamily_domains:SSF46966	.	.	ENSP00000377941	.	10/22	.	.	.	.	.	.	.	.	.	10/22	PASS	ENST00000394419	Transcript	.	.	ENSG00000072110	163	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.985)	.	deleterious(0)	.	ACTN1_HUMAN	ACTN1	HGNC	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN	.	UPI0000D79B2C	SNV	ACTN1,missense_variant,p.Thr340Met,ENST00000538545,;ACTN1,missense_variant,p.Thr340Met,ENST00000193403,;ACTN1,missense_variant,p.Thr340Met,ENST00000394419,;ACTN1,missense_variant,p.Thr340Met,ENST00000438964,;ACTN1,missense_variant,p.Thr275Met,ENST00000376839,;ACTN1,downstream_gene_variant,,ENST00000556433,;ACTN1,downstream_gene_variant,,ENST00000555616,;ACTN1,upstream_gene_variant,,ENST00000544964,;ACTN1,downstream_gene_variant,,ENST00000554508,;ACTN1,upstream_gene_variant,,ENST00000556083,;HMGN1P3,upstream_gene_variant,,ENST00000555136,;	1202	116	85	SUCCESS
PTPN21	11099	.	GRCh37	14	88967666	88967666	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	50	219	0	ENST00000328736.3:c.634G>A	p.Glu212Lys	p.E212K	ENST00000328736		212	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS9884.1	634	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTCTACCT	NONE	.	.	PROSITE_profiles:PS50057,hmmpanther:PTHR19134:SF78,hmmpanther:PTHR19134,PROSITE_patterns:PS00661,Pfam_domain:PF00373,Gene3D:1.20.80.10,PIRSF_domain:PIRSF000934,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935	.	.	ENSP00000452414	.	7/19	.	.	.	.	.	.	.	.	.	7/19	PASS	ENST00000556564	Transcript	.	.	ENSG00000070778	9651	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	tolerated(0.06)	.	PTN21_HUMAN	PTPN21	HGNC	Q8WX29_HUMAN,G3V3S6_HUMAN	.	UPI000013D15F	SNV	PTPN21,missense_variant,p.Glu212Lys,ENST00000556564,;PTPN21,missense_variant,p.Glu212Lys,ENST00000328736,;PTPN21,downstream_gene_variant,,ENST00000555243,;RP11-507K2.2,intron_variant,,ENST00000555444,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554628,;PTPN21,3_prime_UTR_variant,,ENST00000536337,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,;	919	219	180	SUCCESS
DISP2	85455	.	GRCh37	15	40660759	40660759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	11	61	0	ENST00000267889.3:c.2446T>C	p.Cys816Arg	p.C816R	ENST00000267889	NM_033510.1	816	Tgt/Cgt	0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS10056.1	2446	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTCTGTCAC	NONE	.	.	hmmpanther:PTHR10796:SF58,hmmpanther:PTHR10796	.	.	ENSP00000267889	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000267889	Transcript	.	.	ENSG00000140323	19712	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DISP2_HUMAN	DISP2	HGNC	.	.	UPI0000160F9B	SNV	DISP2,missense_variant,p.Cys816Arg,ENST00000267889,;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;	2533	61	56	SUCCESS
PLA2G4F	255189	.	GRCh37	15	42434382	42434382	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1180458014	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	105	0	ENST00000397272.3:c.2356G>A	p.Glu786Lys	p.E786K	ENST00000397272	NM_213600.3	786	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS32204.1	2350	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCAGCTG	NONE	.	.	PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	.	.	ENSP00000371833	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000382396	Transcript	.	.	ENSG00000168907	27396	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	deleterious(0.03)	.	PA24F_HUMAN	PLA2G4F	HGNC	.	.	UPI0000160965	SNV	PLA2G4F,missense_variant,p.Glu786Lys,ENST00000397272,;PLA2G4F,missense_variant,p.Glu784Lys,ENST00000382396,;PLA2G4F,3_prime_UTR_variant,,ENST00000562320,;PLA2G4F,3_prime_UTR_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,downstream_gene_variant,,ENST00000561893,;	2437	105	85	SUCCESS
ADAL	161823	.	GRCh37	15	43643187	43643187	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	17	125	0	ENST00000562188.1:c.821A>G	p.Asp274Gly	p.D274G	ENST00000562188		274	gAc/gGc	0	.	.	.	.	.	G	D/G	protein_coding	YES	CCDS53936.1	740	RADIA|MUTECT|MUSE|VARSCANS	.	TTATGACCAGC	NONE	.	.	Superfamily_domains:SSF51556,Pfam_domain:PF00962,Gene3D:3.20.20.140,hmmpanther:PTHR11409:SF21,hmmpanther:PTHR11409	.	.	ENSP00000413074	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000428046	Transcript	.	.	ENSG00000168803	31853	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.012)	.	tolerated(0.08)	.	ADAL_HUMAN	ADAL	HGNC	.	.	UPI00017A77C0	SNV	ADAL,missense_variant,p.Asp274Gly,ENST00000422466,;ADAL,missense_variant,p.Asp247Gly,ENST00000428046,;ADAL,missense_variant,p.Asp274Gly,ENST00000562188,;ADAL,missense_variant,p.Asp88Gly,ENST00000566154,;ADAL,downstream_gene_variant,,ENST00000389651,;	1314	125	125	SUCCESS
SORD	6652	.	GRCh37	15	45361208	45361208	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs768623273	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	236	39	253	0	ENST00000267814.9:c.744C>G	p.Ile248Met	p.I248M	ENST00000267814	NM_003104.5	248	atC/atG	0	.	.	.	.	.	G	I/M	protein_coding	YES	CCDS10116.1	744	RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCGAGTG	NONE	byFrequency	.	hmmpanther:PTHR11695:SF451,hmmpanther:PTHR11695,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735	.	.	ENSP00000267814	.	7/9	.	.	.	.	.	.	.	.	rs768623273	7/9	PASS	ENST00000267814	Transcript	.	.	ENSG00000140263	11184	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.405)	.	tolerated(0.06)	.	DHSO_HUMAN	SORD	HGNC	.	.	UPI000013D771	SNV	SORD,missense_variant,p.Ile227Met,ENST00000558580,;SORD,missense_variant,p.Ile248Met,ENST00000267814,;RP11-109D20.2,downstream_gene_variant,,ENST00000560967,;SORD,upstream_gene_variant,,ENST00000559562,;SORD,upstream_gene_variant,,ENST00000560488,;SORD,3_prime_UTR_variant,,ENST00000559230,;SORD,3_prime_UTR_variant,,ENST00000558789,;SORD,upstream_gene_variant,,ENST00000558574,;	924	253	275	SUCCESS
STOML1	9399	.	GRCh37	15	74281023	74281023	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs775570485	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	66	0	ENST00000541638.1:c.385C>G	p.Gln129Glu	p.Q129E	ENST00000541638		129	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS10254.1	511	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTGGGCTG	NONE	byFrequency	.	hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF70,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593,Prints_domain:PR00721	.	.	ENSP00000319323	.	4/7	.	.	.	.	.	.	.	.	rs775570485	4/7	PASS	ENST00000316900	Transcript	.	.	ENSG00000067221	14560	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	deleterious(0.01)	.	STML1_HUMAN	STOML1	HGNC	H3BVF2_HUMAN	.	UPI00000377B6	SNV	STOML1,missense_variant,p.Gln84Glu,ENST00000566081,;STOML1,missense_variant,p.Gln171Glu,ENST00000359750,;STOML1,missense_variant,p.Gln121Glu,ENST00000316911,;STOML1,missense_variant,p.Gln121Glu,ENST00000564777,;STOML1,missense_variant,p.Gln129Glu,ENST00000565240,;STOML1,missense_variant,p.Gln171Glu,ENST00000316900,;STOML1,missense_variant,p.Gln129Glu,ENST00000541638,;STOML1,missense_variant,p.Gln84Glu,ENST00000561656,;STOML1,downstream_gene_variant,,ENST00000562453,;STOML1,non_coding_transcript_exon_variant,,ENST00000567052,;STOML1,non_coding_transcript_exon_variant,,ENST00000563229,;STOML1,downstream_gene_variant,,ENST00000567876,;STOML1,upstream_gene_variant,,ENST00000561480,;	636	66	74	SUCCESS
WDR73	84942	.	GRCh37	15	85186706	85186707	+	frameshift_variant	Frame_Shift_Del	DEL	GG	GG	-	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	79	28	81	0	ENST00000434634.2:c.1131_1132del	p.Arg378LeufsTer11	p.R378Lfs*11	ENST00000434634	NM_032856.2	377	ccCCgc/ccgc	0	.	.	.	.	.	-	PR/PX	protein_coding	YES	CCDS45339.1	1131-1132	VARSCANI*|PINDEL	.	GTCAGCGGGGGGC	NONE	.	.	.	.	.	ENSP00000387982	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000434634	Transcript	1	.	ENSG00000177082	25928	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR73_HUMAN	WDR73	HGNC	.	.	UPI000004A084	deletion	WDR73,frameshift_variant,p.Arg378LeufsTer11,ENST00000434634,;WDR73,non_coding_transcript_exon_variant,,ENST00000398528,;SCAND2P,downstream_gene_variant,,ENST00000560678,;WDR73,downstream_gene_variant,,ENST00000561447,;SCAND2P,downstream_gene_variant,,ENST00000558508,;SCAND2P,downstream_gene_variant,,ENST00000348993,;WDR73,downstream_gene_variant,,ENST00000560835,;SCAND2P,downstream_gene_variant,,ENST00000560543,;WDR73,non_coding_transcript_exon_variant,,ENST00000558608,;WDR73,non_coding_transcript_exon_variant,,ENST00000559994,;WDR73,non_coding_transcript_exon_variant,,ENST00000559015,;WDR73,non_coding_transcript_exon_variant,,ENST00000559126,;WDR73,downstream_gene_variant,,ENST00000561329,;WDR73,downstream_gene_variant,,ENST00000560252,;WDR73,downstream_gene_variant,,ENST00000560088,;WDR73,downstream_gene_variant,,ENST00000559224,;WDR73,downstream_gene_variant,,ENST00000560182,;WDR73,downstream_gene_variant,,ENST00000558019,;WDR73,downstream_gene_variant,,ENST00000559178,;WDR73,downstream_gene_variant,,ENST00000560966,;WDR73,downstream_gene_variant,,ENST00000559877,;WDR73,downstream_gene_variant,,ENST00000558521,;WDR73,downstream_gene_variant,,ENST00000559452,;SCAND2P,downstream_gene_variant,,ENST00000541103,;	1192-1193	81	107	SUCCESS
ACAN	176	.	GRCh37	15	89398123	89398123	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs191404107	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	10	158	0	ENST00000439576.2:c.2307G>C	p.Glu769Asp	p.E769D	ENST00000439576	NM_013227.3	769	gaG/gaC	0	.	A:0	.	A:0.013	.	C	E/D	protein_coding	YES	CCDS53970.1	2307	MUTECT|MUSE|VARSCANS	.	ACAGAGGAAAG	NONE	byFrequency|by1000G	.	hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804	A:0	.	ENSP00000387356	A:0	12/18	.	.	.	.	.	.	.	.	rs191404107	12/18	PASS	ENST00000439576	Transcript	1	A:0.0018	ENSG00000157766	319	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.001)	A:0	tolerated(0.07)	.	.	ACAN	HGNC	Q6LE94_HUMAN,E7EX88_HUMAN	.	UPI0001B23381	SNV	ACAN,missense_variant,p.Glu769Asp,ENST00000559004,;ACAN,missense_variant,p.Glu769Asp,ENST00000439576,;ACAN,missense_variant,p.Glu769Asp,ENST00000561243,;ACAN,missense_variant,p.Glu769Asp,ENST00000352105,;ACAN,upstream_gene_variant,,ENST00000560601,;ACAN,downstream_gene_variant,,ENST00000558207,;	2681	158	120	SUCCESS
GRIN2A	2903	.	GRCh37	16	10274102	10274102	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs769971551	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	79	0	ENST00000330684.3:c.167G>T	p.Gly56Val	p.G56V	ENST00000330684	NM_001134407.1	56	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS10539.1	167	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGCCCCAC	NONE	.	.	Superfamily_domains:SSF53822	.	.	ENSP00000379818	.	3/14	.	.	.	.	.	.	.	.	rs769971551	3/14	PASS	ENST00000396573	Transcript	.	.	ENSG00000183454	4585	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.167)	.	tolerated(0.07)	.	NMDE1_HUMAN	GRIN2A	HGNC	Q547U9_HUMAN	.	UPI000000D7AB	SNV	GRIN2A,missense_variant,p.Gly56Val,ENST00000396573,;GRIN2A,missense_variant,p.Gly56Val,ENST00000404927,;GRIN2A,missense_variant,p.Gly56Val,ENST00000330684,;GRIN2A,missense_variant,p.Gly56Val,ENST00000396575,;GRIN2A,missense_variant,p.Gly56Val,ENST00000562109,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566665,;	477	79	70	SUCCESS
C16orf58	0	.	GRCh37	16	31519395	31519395	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	29	178	0	ENST00000327237.2:c.300G>A		p.X100_splice	ENST00000327237	NM_022744.3	100	caG/caA	0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS10715.1	300	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACCTGCAC	NONE	.	.	Pfam_domain:PF04884,hmmpanther:PTHR12770,hmmpanther:PTHR12770:SF22	.	.	ENSP00000317579	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000327237	Transcript	.	.	ENSG00000140688	25848	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP058_HUMAN	C16orf58	HGNC	I3L2V0_HUMAN	.	UPI0000141B4B	SNV	C16orf58,synonymous_variant,p.%3D,ENST00000567994,;C16orf58,synonymous_variant,p.%3D,ENST00000327237,;C16orf58,synonymous_variant,p.%3D,ENST00000570164,;C16orf58,splice_region_variant,,ENST00000430477,;C16orf58,intron_variant,,ENST00000564807,;RP11-452L6.7,upstream_gene_variant,,ENST00000569782,;C16orf58,synonymous_variant,p.%3D,ENST00000565128,;C16orf58,synonymous_variant,p.%3D,ENST00000567578,;C16orf58,splice_region_variant,,ENST00000541442,;C16orf58,splice_region_variant,,ENST00000566148,;	340	178	144	SUCCESS
TFAP4	7023	.	GRCh37	16	4310529	4310529	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	57	0	ENST00000204517.6:c.593A>T	p.Gln198Leu	p.Q198L	ENST00000204517	NM_003223.2	198	cAg/cTg	0	.	.	.	.	.	A	Q/L	protein_coding	YES	CCDS10510.1	593	MUTECT|MUSE	.	GCTGCTGCAGC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15741	.	.	ENSP00000204517	.	5/7	.	.	.	.	.	.	.	.	COSM4060758	5/7	PASS	ENST00000204517	Transcript	.	.	ENSG00000090447	11745	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	unknown(0)	.	deleterious(0.05)	1	TFAP4_HUMAN	TFAP4	HGNC	I3L254_HUMAN	.	UPI00001368DA	SNV	TFAP4,missense_variant,p.Gln198Leu,ENST00000204517,;TFAP4,downstream_gene_variant,,ENST00000572393,;TFAP4,3_prime_UTR_variant,,ENST00000573476,;TFAP4,3_prime_UTR_variant,,ENST00000574639,;TFAP4,non_coding_transcript_exon_variant,,ENST00000575320,;TFAP4,non_coding_transcript_exon_variant,,ENST00000575300,;TFAP4,upstream_gene_variant,,ENST00000575672,;	922	57	45	SUCCESS
FHOD1	29109	.	GRCh37	16	67281173	67281173	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	78	0	ENST00000258201.4:c.141G>T	p.Gly47=	p.G47=	ENST00000258201	NM_013241.2	47	ggG/ggT	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS10834.1	141	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCCCGTC	NONE	.	.	hmmpanther:PTHR23213:SF189,hmmpanther:PTHR23213	.	.	ENSP00000258201	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000258201	Transcript	.	.	ENSG00000135723	17905	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHOD1_HUMAN	FHOD1	HGNC	.	.	UPI000013CFB9	SNV	FHOD1,synonymous_variant,p.%3D,ENST00000258201,;SLC9A5,5_prime_UTR_variant,,ENST00000566345,;SLC9A5,upstream_gene_variant,,ENST00000299798,;SLC9A5,upstream_gene_variant,,ENST00000561472,;FHOD1,synonymous_variant,p.%3D,ENST00000561922,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;SLC9A5,intron_variant,,ENST00000564704,;SLC9A5,upstream_gene_variant,,ENST00000564812,;SLC9A5,upstream_gene_variant,,ENST00000563723,;SLC9A5,upstream_gene_variant,,ENST00000566638,;	389	78	70	SUCCESS
METTL22	79091	.	GRCh37	16	8722963	8722963	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	63	0	ENST00000381920.3:c.510A>C	p.Arg170Ser	p.R170S	ENST00000381920	NM_024109.2	170	agA/agC	0	.	.	.	.	.	C	R/S	protein_coding	YES	CCDS10533.2	510	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGAATAGG	NONE	.	.	hmmpanther:PTHR23108,hmmpanther:PTHR23108:SF0,Gene3D:3.40.50.150	.	.	ENSP00000371345	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000381920	Transcript	.	.	ENSG00000067365	28368	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.41)	.	deleterious(0.01)	.	MET22_HUMAN	METTL22	HGNC	H3BTR2_HUMAN	.	UPI00001FED9D	SNV	METTL22,missense_variant,p.Arg170Ser,ENST00000381920,;METTL22,missense_variant,p.Arg114Ser,ENST00000561758,;METTL22,downstream_gene_variant,,ENST00000563958,;METTL22,downstream_gene_variant,,ENST00000564554,;METTL22,upstream_gene_variant,,ENST00000568967,;METTL22,downstream_gene_variant,,ENST00000563037,;METTL22,missense_variant,p.Arg170Ser,ENST00000163678,;METTL22,3_prime_UTR_variant,,ENST00000567295,;	768	63	41	SUCCESS
MYH3	4621	.	GRCh37	17	10543991	10543991	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	59	0	ENST00000583535.1:c.2178G>T	p.Leu726=	p.L726=	ENST00000583535	NM_002470.3	726	ctG/ctT	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS11157.1	2178	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTCAGCAC	NONE	.	.	PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	.	.	ENSP00000464317	.	20/41	.	.	.	.	.	.	.	.	.	20/41	PASS	ENST00000583535	Transcript	.	.	ENSG00000109063	7573	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYH3_HUMAN	MYH3	HGNC	.	.	UPI000013C892	SNV	MYH3,synonymous_variant,p.%3D,ENST00000583535,;MYH3,synonymous_variant,p.%3D,ENST00000226209,;	2266	59	55	SUCCESS
KIAA0100	9703	.	GRCh37	17	26970319	26970319	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	22	86	0	ENST00000528896.2:c.259G>T	p.Ala87Ser	p.A87S	ENST00000528896	NM_014680.3	87	Gca/Tca	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS32595.1	259	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATGCCACAT	NONE	.	.	hmmpanther:PTHR15678,Pfam_domain:PF10344	.	.	ENSP00000436773	.	4/39	.	.	.	.	.	.	.	.	.	4/39	PASS	ENST00000528896	Transcript	.	.	ENSG00000007202	28960	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.917)	.	tolerated(0.19)	.	K0100_HUMAN	KIAA0100	HGNC	Q08E86_HUMAN,G1UI35_HUMAN	.	UPI00004B4130	SNV	KIAA0100,missense_variant,p.Ala87Ser,ENST00000528896,;KIAA0100,5_prime_UTR_variant,,ENST00000544884,;KIAA0100,5_prime_UTR_variant,,ENST00000389003,;KIAA0100,missense_variant,p.Gly70Val,ENST00000583403,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,upstream_gene_variant,,ENST00000582901,;KIAA0100,upstream_gene_variant,,ENST00000579253,;KIAA0100,upstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000581267,;	334	86	75	SUCCESS
C17orf50	146853	.	GRCh37	17	34091295	34091295	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	86	0	ENST00000285023.4:c.283T>A	p.Trp95Arg	p.W95R	ENST00000285023	NM_145272.3	95	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS42298.1	283	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTGGCTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF15470	.	.	ENSP00000285023	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000285023	Transcript	.	.	ENSG00000154768	29581	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.934)	.	deleterious(0)	.	CQ050_HUMAN	C17orf50	HGNC	.	.	UPI00002016EC	SNV	C17orf50,missense_variant,p.Trp95Arg,ENST00000285023,;C17orf50,missense_variant,p.Leu102Gln,ENST00000588628,;MMP28,intron_variant,,ENST00000587687,;C17orf50,intron_variant,,ENST00000586491,;MMP28,intron_variant,,ENST00000587639,;MMP28,downstream_gene_variant,,ENST00000587923,;MMP28,downstream_gene_variant,,ENST00000590643,;MMP28,downstream_gene_variant,,ENST00000589061,;MMP28,downstream_gene_variant,,ENST00000589103,;	315	86	59	SUCCESS
ARHGAP27	201176	.	GRCh37	17	43474146	43474146	+	synonymous_variant	Silent	SNP	G	G	A	rs773665081	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	74	0	ENST00000428638.1:c.1962C>T	p.Ala654=	p.A654=	ENST00000428638		654	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS11498.1	939	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGGCGGG	NONE	.	.	hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF2	.	.	ENSP00000366121	.	12/17	.	.	.	.	.	.	.	.	rs773665081	12/17	PASS	ENST00000376922	Transcript	.	.	ENSG00000159314	31813	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG27_HUMAN	ARHGAP27	HGNC	.	.	UPI00001C0B29	SNV	ARHGAP27,synonymous_variant,p.%3D,ENST00000428638,;ARHGAP27,synonymous_variant,p.%3D,ENST00000532038,;ARHGAP27,synonymous_variant,p.%3D,ENST00000376922,;ARHGAP27,synonymous_variant,p.%3D,ENST00000442348,;ARHGAP27,synonymous_variant,p.%3D,ENST00000532891,;ARHGAP27,synonymous_variant,p.%3D,ENST00000455881,;ARHGAP27,synonymous_variant,p.%3D,ENST00000528384,;CTB-39G8.3,upstream_gene_variant,,ENST00000592389,;ARHGAP27,downstream_gene_variant,,ENST00000582826,;ARHGAP27,non_coding_transcript_exon_variant,,ENST00000531735,;ARHGAP27,upstream_gene_variant,,ENST00000581991,;ARHGAP27,downstream_gene_variant,,ENST00000526484,;ARHGAP27,downstream_gene_variant,,ENST00000529357,;ARHGAP27,upstream_gene_variant,,ENST00000581638,;ARHGAP27,upstream_gene_variant,,ENST00000590026,;	1373	74	54	SUCCESS
SMTNL2	342527	.	GRCh37	17	4500190	4500190	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs199710091	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	77	0	ENST00000389313.4:c.1025C>T	p.Ser342Leu	p.S342L	ENST00000389313	NM_001114974.1	342	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS45583.1	1025	MUTECT|MUSE|VARSCANS	.	GCGGTCGCAGA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF47576,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF208	.	.	ENSP00000373964	.	6/8	.	.	.	.	.	.	.	.	rs199710091	6/8	PASS	ENST00000389313	Transcript	.	.	ENSG00000188176	24764	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	SMTL2_HUMAN	SMTNL2	HGNC	.	.	UPI0000200685	SNV	SMTNL2,missense_variant,p.Ser198Leu,ENST00000338859,;SMTNL2,missense_variant,p.Ser342Leu,ENST00000389313,;SMTNL2,downstream_gene_variant,,ENST00000572951,;SMTNL2,non_coding_transcript_exon_variant,,ENST00000570526,;	1092	77	55	SUCCESS
HN1	0	.	GRCh37	17	73132208	73132208	+	synonymous_variant	Silent	SNP	C	C	T	rs750053454	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	63	290	0	ENST00000356033.4:c.435G>A	p.Ser145=	p.S145=	ENST00000356033	NM_001002032.1	145	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS32729.1	435	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGACGAGGC	NONE	byFrequency	.	.	.	.	ENSP00000348316	.	4/4	.	.	.	.	.	.	.	.	rs750053454	4/4	PASS	ENST00000356033	Transcript	.	.	ENSG00000189159	14569	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HN1_HUMAN	HN1	HGNC	.	.	UPI00001B2206	SNV	HN1,missense_variant,p.Val106Ile,ENST00000482348,;HN1,missense_variant,p.Val106Ile,ENST00000392566,;HN1,missense_variant,p.Val106Ile,ENST00000405458,;HN1,missense_variant,p.Val106Ile,ENST00000481647,;HN1,missense_variant,p.Val106Ile,ENST00000476258,;HN1,missense_variant,p.Val152Ile,ENST00000409753,;HN1,missense_variant,p.Val106Ile,ENST00000470924,;HN1,synonymous_variant,p.%3D,ENST00000356033,;NT5C,upstream_gene_variant,,ENST00000578337,;NT5C,upstream_gene_variant,,ENST00000582170,;HN1,downstream_gene_variant,,ENST00000580380,;NT5C,upstream_gene_variant,,ENST00000580423,;NT5C,upstream_gene_variant,,ENST00000245552,;NT5C,upstream_gene_variant,,ENST00000578407,;HN1,downstream_gene_variant,,ENST00000581874,;NT5C,upstream_gene_variant,,ENST00000582160,;RP11-649A18.5,downstream_gene_variant,,ENST00000584339,;NT5C,upstream_gene_variant,,ENST00000579082,;HN1,3_prime_UTR_variant,,ENST00000304834,;HN1,non_coding_transcript_exon_variant,,ENST00000481094,;NT5C,upstream_gene_variant,,ENST00000578095,;NT5C,upstream_gene_variant,,ENST00000580758,;NT5C,upstream_gene_variant,,ENST00000583655,;NT5C,upstream_gene_variant,,ENST00000577523,;NT5C,upstream_gene_variant,,ENST00000582744,;NT5C,upstream_gene_variant,,ENST00000579023,;	713	290	238	SUCCESS
NUP85	79902	.	GRCh37	17	73201809	73201809	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	96	0	ENST00000245544.4:c.-48G>T		p.*16*	ENST00000245544	NM_024844.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32730.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGGGAAGC	NONE	.	.	.	.	.	ENSP00000245544	.	1/19	.	.	.	.	.	.	.	.	.	1/19	PASS	ENST00000245544	Transcript	.	.	ENSG00000125450	8734	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP85_HUMAN	NUP85	HGNC	J3QL54_HUMAN,J3KSH3_HUMAN,F5H0W7_HUMAN,B4DMQ3_HUMAN	.	UPI00000735DC	SNV	NUP85,5_prime_UTR_variant,,ENST00000579324,;NUP85,5_prime_UTR_variant,,ENST00000245544,;NUP85,5_prime_UTR_variant,,ENST00000583569,;NUP85,5_prime_UTR_variant,,ENST00000541827,;NUP85,upstream_gene_variant,,ENST00000579298,;NUP85,upstream_gene_variant,,ENST00000447371,;NUP85,non_coding_transcript_exon_variant,,ENST00000582833,;NUP85,non_coding_transcript_exon_variant,,ENST00000449421,;NUP85,non_coding_transcript_exon_variant,,ENST00000583948,;NUP85,upstream_gene_variant,,ENST00000583548,;NUP85,upstream_gene_variant,,ENST00000577208,;NUP85,upstream_gene_variant,,ENST00000581104,;	24	96	60	SUCCESS
WBP11P1	441818	.	GRCh37	18	30092964	30092964	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	36	0	ENST00000567636.1:n.1339G>T		p.*447*	ENST00000567636				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGGCTCC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000567636	Transcript	.	.	ENSG00000260389	26250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	WBP11P1	HGNC	.	.	.	SNV	WBP11P1,non_coding_transcript_exon_variant,,ENST00000567636,;WBP11P1,non_coding_transcript_exon_variant,,ENST00000562560,;	1339	36	36	SUCCESS
MUM1	0	.	GRCh37	19	1371003	1371003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	70	0	ENST00000344663.3:c.1915G>A	p.Glu639Lys	p.E639K	ENST00000344663		639	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS12062.1	1915	MUTECT|MUSE	.	ACCAGGAGGTG	NONE	.	.	hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF4	.	.	ENSP00000345789	.	12/14	.	.	.	.	.	.	.	.	.	12/14	PASS	ENST00000344663	Transcript	.	.	ENSG00000160953	29641	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.801)	.	tolerated(0.06)	.	.	MUM1	HGNC	K7EP97_HUMAN,K7END0_HUMAN,J3KNX4_HUMAN	.	UPI00001A95DB	SNV	MUM1,missense_variant,p.Glu639Lys,ENST00000415183,;MUM1,missense_variant,p.Glu639Lys,ENST00000591806,;MUM1,missense_variant,p.Glu639Lys,ENST00000344663,;MUM1,missense_variant,p.Glu570Lys,ENST00000311401,;MUM1,upstream_gene_variant,,ENST00000588888,;MUM1,upstream_gene_variant,,ENST00000591453,;MUM1,upstream_gene_variant,,ENST00000586067,;MUM1,3_prime_UTR_variant,,ENST00000587460,;MUM1,3_prime_UTR_variant,,ENST00000591433,;MUM1,downstream_gene_variant,,ENST00000585399,;MUM1,upstream_gene_variant,,ENST00000591627,;MUM1,downstream_gene_variant,,ENST00000586996,;	2016	70	79	SUCCESS
PCSK4	54760	.	GRCh37	19	1490362	1490362	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	24	0	ENST00000300954.5:c.-17G>A		p.*6*	ENST00000300954	NM_017573.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12069.2	.	MUTECT|MUSE	.	GGGAGCGGGGC	NONE	.	.	.	.	.	ENSP00000300954	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000300954	Transcript	.	.	ENSG00000115257	8746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCSK4_HUMAN	PCSK4	HGNC	.	.	UPI000014E136	SNV	PCSK4,5_prime_UTR_variant,,ENST00000588671,;PCSK4,5_prime_UTR_variant,,ENST00000300954,;REEP6,upstream_gene_variant,,ENST00000233596,;REEP6,upstream_gene_variant,,ENST00000395479,;PCSK4,intron_variant,,ENST00000590057,;PCSK4,intron_variant,,ENST00000587784,;PCSK4,intron_variant,,ENST00000591687,;PCSK4,5_prime_UTR_variant,,ENST00000588195,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,upstream_gene_variant,,ENST00000591201,;REEP6,upstream_gene_variant,,ENST00000591735,;PCSK4,upstream_gene_variant,,ENST00000441747,;	46	24	26	SUCCESS
PEPD	5184	.	GRCh37	19	33892756	33892756	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	100	0	ENST00000244137.7:c.838G>T	p.Glu280Ter	p.E280*	ENST00000244137	NM_000285.3	280	Gag/Tag	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42544.1	838	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTCACCGC	NONE	.	.	hmmpanther:PTHR10804:SF17,hmmpanther:PTHR10804,Gene3D:3.90.230.10,Pfam_domain:PF00557,Superfamily_domains:SSF55920	.	.	ENSP00000244137	.	12/15	.	.	.	.	.	.	.	.	.	12/15	PASS	ENST00000244137	Transcript	1	.	ENSG00000124299	8840	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEPD_HUMAN	PEPD	HGNC	K7EQ51_HUMAN	.	UPI000006F8BF	SNV	PEPD,stop_gained,p.Glu91Ter,ENST00000609145,;PEPD,stop_gained,p.Glu280Ter,ENST00000244137,;PEPD,stop_gained,p.Glu239Ter,ENST00000397032,;PEPD,stop_gained,p.Glu111Ter,ENST00000588328,;PEPD,stop_gained,p.Glu216Ter,ENST00000436370,;PEPD,non_coding_transcript_exon_variant,,ENST00000590731,;PEPD,non_coding_transcript_exon_variant,,ENST00000588719,;PEPD,non_coding_transcript_exon_variant,,ENST00000593163,;	872	100	92	SUCCESS
SCN1B	6324	.	GRCh37	19	35521747	35521747	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs786205833	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	9	142	0	ENST00000262631.5:c.23T>C	p.Val8Ala	p.V8A	ENST00000262631	NM_001037.4	8	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS46047.1	23	MUTECT|MUSE|VARSCANS	uncertain_significance	CTTAGTGGTCG	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10546,PROSITE_profiles:PS51257	.	.	ENSP00000396915	.	1/3	.	.	.	.	.	.	.	.	rs786205833	1/3	PASS	ENST00000415950	Transcript	1	.	ENSG00000105711	10586	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1	.	.	unknown(0)	.	deleterious_low_confidence(0.02)	.	SCN1B_HUMAN	SCN1B	HGNC	.	.	UPI00000473F0	SNV	SCN1B,missense_variant,p.Val8Ala,ENST00000415950,;SCN1B,missense_variant,p.Val8Ala,ENST00000262631,;SCN1B,missense_variant,p.Val8Ala,ENST00000595652,;GRAMD1A,downstream_gene_variant,,ENST00000317991,;GRAMD1A,downstream_gene_variant,,ENST00000599564,;GRAMD1A,downstream_gene_variant,,ENST00000411896,;GRAMD1A,downstream_gene_variant,,ENST00000504615,;SCN1B,upstream_gene_variant,,ENST00000596348,;GRAMD1A,downstream_gene_variant,,ENST00000598118,;GRAMD1A,downstream_gene_variant,,ENST00000600231,;	23	142	107	SUCCESS
SIPA1L3	23094	.	GRCh37	19	38610385	38610385	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	57	0	ENST00000222345.6:c.2731T>A	p.Cys911Ser	p.C911S	ENST00000222345	NM_015073.1	911	Tgc/Agc	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS33007.1	2731	MUTECT|MUSE	.	TCAACTGCTAC	NONE	.	.	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	.	.	ENSP00000222345	.	9/22	.	.	.	.	.	.	.	.	.	9/22	PASS	ENST00000222345	Transcript	.	.	ENSG00000105738	23801	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SI1L3_HUMAN	SIPA1L3	HGNC	Q8IUV1_HUMAN	.	UPI00001D8160	SNV	SIPA1L3,missense_variant,p.Cys911Ser,ENST00000222345,;SIPA1L3,upstream_gene_variant,,ENST00000600919,;SIPA1L3,non_coding_transcript_exon_variant,,ENST00000601881,;SIPA1L3,downstream_gene_variant,,ENST00000594553,;	3240	57	39	SUCCESS
MARK4	57787	.	GRCh37	19	45790827	45790827	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs1047483446	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	79	384	0	ENST00000262891.4:c.1399C>T	p.Arg467Ter	p.R467*	ENST00000262891	NM_001199867.1	467	Cga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS56097.1	1399	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGTCGAGGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24346:SF22,hmmpanther:PTHR24346	.	.	ENSP00000262891	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000262891	Transcript	.	.	ENSG00000007047	13538	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARK4_HUMAN	MARK4	HGNC	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN	.	UPI0000044D47	SNV	MARK4,stop_gained,p.Arg467Ter,ENST00000262891,;MARK4,stop_gained,p.Arg467Ter,ENST00000300843,;MARK4,3_prime_UTR_variant,,ENST00000592207,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000590897,;	1730	384	338	SUCCESS
VN1R2	317701	.	GRCh37	19	53761659	53761659	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	53	0	ENST00000341702.3:c.31G>T	p.Ala11Ser	p.A11S	ENST00000341702	NM_173856.2	11	Gct/Tct	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS12862.1	31	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGCTTTG	NONE	.	.	Transmembrane_helices:TMhelix	.	.	ENSP00000351244	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341702	Transcript	.	.	ENSG00000196131	19872	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	VN1R2_HUMAN	VN1R2	HGNC	.	.	UPI0000062046	SNV	VN1R2,missense_variant,p.Ala11Ser,ENST00000341702,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000598513,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	115	53	54	SUCCESS
LILRA2	11027	.	GRCh37	19	55087301	55087301	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs780073407	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	24	79	0	ENST00000251377.3:c.980C>A	p.Ser327Ter	p.S327*	ENST00000251377		327	tCg/tAg	0	.	.	.	.	.	A	S/*	protein_coding	YES	CCDS46179.1	980	RADIA|MUTECT|MUSE	.	TCTCTCGGTGC	NONE	byFrequency	.	hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	.	.	ENSP00000251377	.	7/9	.	.	.	.	.	.	.	.	rs780073407	7/9	PASS	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,stop_gained,p.Ser327Ter,ENST00000251376,;LILRA2,stop_gained,p.Ser327Ter,ENST00000391738,;LILRA2,stop_gained,p.Ser315Ter,ENST00000391737,;LILRA2,stop_gained,p.Ser327Ter,ENST00000439534,;LILRA2,stop_gained,p.Ser327Ter,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	1113	79	96	SUCCESS
LILRA2	11027	.	GRCh37	19	55087318	55087318	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	25	88	0	ENST00000251377.3:c.997A>G	p.Thr333Ala	p.T333A	ENST00000251377		333	Aca/Gca	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46179.1	997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACAGTA	NONE	.	.	hmmpanther:PTHR11738:SF90,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000251377	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000251377	Transcript	.	.	ENSG00000239998	6603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.2)	.	tolerated(0.06)	.	LIRA2_HUMAN	LILRA2	HGNC	E9PDF4_HUMAN	.	UPI0000034C01	SNV	LILRA2,missense_variant,p.Thr333Ala,ENST00000251376,;LILRA2,missense_variant,p.Thr333Ala,ENST00000391738,;LILRA2,missense_variant,p.Thr321Ala,ENST00000391737,;LILRA2,missense_variant,p.Thr333Ala,ENST00000251377,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396321,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	1130	88	103	SUCCESS
FUT3	2525	.	GRCh37	19	5844157	5844157	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	51	203	0	ENST00000303225.6:c.694G>A	p.Gly232Arg	p.G232R	ENST00000303225	NM_000149.3	232	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS12153.1	694	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCCTTGG	NONE	.	.	Superfamily_domains:SSF53756,Pfam_domain:PF00852,hmmpanther:PTHR11929:SF137,hmmpanther:PTHR11929	.	.	ENSP00000305603	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303225	Transcript	1	.	ENSG00000171124	4014	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.36)	.	FUT3_HUMAN	FUT3	HGNC	K7ES24_HUMAN,K7EQ20_HUMAN,K7ENT3_HUMAN	.	UPI000013E879	SNV	FUT3,missense_variant,p.Gly232Arg,ENST00000589918,;FUT3,missense_variant,p.Gly232Arg,ENST00000458379,;FUT3,missense_variant,p.Gly232Arg,ENST00000303225,;FUT3,missense_variant,p.Gly232Arg,ENST00000589620,;FUT6,upstream_gene_variant,,ENST00000286955,;FUT3,downstream_gene_variant,,ENST00000587048,;FUT3,downstream_gene_variant,,ENST00000585715,;FUT6,upstream_gene_variant,,ENST00000318336,;FUT3,downstream_gene_variant,,ENST00000587183,;FUT6,upstream_gene_variant,,ENST00000524754,;FUT3,downstream_gene_variant,,ENST00000589714,;AC024592.9,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT3,downstream_gene_variant,,ENST00000593144,;FUT6,upstream_gene_variant,,ENST00000591079,;	1329	203	173	SUCCESS
MISP	126353	.	GRCh37	19	757270	757270	+	synonymous_variant	Silent	SNP	A	A	G	rs1223820787	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	37	182	0	ENST00000215582.6:c.324A>G	p.Thr108=	p.T108=	ENST00000215582	NM_173481.2	108	acA/acG	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS12042.1	324	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACATGGGC	NONE	.	.	hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839	.	.	ENSP00000215582	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000215582	Transcript	.	.	ENSG00000099812	27000	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MISP_HUMAN	MISP	HGNC	.	.	UPI00000745CD	SNV	MISP,synonymous_variant,p.%3D,ENST00000215582,;	427	182	137	SUCCESS
ZNF426	79088	.	GRCh37	19	9646941	9646941	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	22	145	0	ENST00000253115.2:c.-33A>T		p.*11*	ENST00000253115	NM_024106.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12215.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTTCATT	NONE	.	.	.	.	.	ENSP00000439017	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000535489	Transcript	.	.	ENSG00000130818	20725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN426_HUMAN	ZNF426	HGNC	.	.	UPI0000072122	SNV	ZNF426,5_prime_UTR_variant,,ENST00000535489,;ZNF426,5_prime_UTR_variant,,ENST00000253115,;ZNF426,5_prime_UTR_variant,,ENST00000589289,;ZNF426,5_prime_UTR_variant,,ENST00000593003,;	305	145	89	SUCCESS
KCNC4	3749	.	GRCh37	1	110766436	110766436	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	29	108	0	ENST00000369787.3:c.1529C>T	p.Ser510Phe	p.S510F	ENST00000369787	NM_004978.4	510	tCt/tTt	0	.	.	.	.	.	T	S/F	protein_coding	YES	CCDS821.1	1529	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTCTGAGG	NONE	.	.	hmmpanther:PTHR11537:SF126,hmmpanther:PTHR11537,Prints_domain:PR01583	.	.	ENSP00000358802	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000369787	Transcript	.	.	ENSG00000116396	6236	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.957)	.	deleterious(0.02)	.	KCNC4_HUMAN	KCNC4	HGNC	.	.	UPI000013CAC8	SNV	KCNC4,missense_variant,p.Ser510Phe,ENST00000413138,;KCNC4,missense_variant,p.Ser510Phe,ENST00000369787,;KCNC4,missense_variant,p.Ser510Phe,ENST00000438661,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,missense_variant,p.Ser510Phe,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;	1556	108	109	SUCCESS
ADAM30	11085	.	GRCh37	1	120436590	120436591	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs776348199	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	53	15	66	0	ENST00000369400.1:c.2369dup	p.Ter791ValfsTer10	p.*791Vfs*10	ENST00000369400	NM_021794.3	790	aag/aaAg	0	.	.	.	.	.	T	K/KX	protein_coding	YES	CCDS907.1	2369-2370	INDELOCATOR|VARSCANI	.	GGTTACTTTTT	NONE	.	.	.	.	.	ENSP00000358407	.	1/1	.	.	.	.	.	.	.	.	rs776348199	1/1	PASS	ENST00000369400	Transcript	.	.	ENSG00000134249	208	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADA30_HUMAN	ADAM30	HGNC	.	.	UPI000004C638	insertion	ADAM30,frameshift_variant,p.Ter791ValfsTer10,ENST00000369400,;	2528-2529	66	69	SUCCESS
DUSP27	0	.	GRCh37	1	167095804	167095804	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1437820488	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	96	248	0	ENST00000361200.2:c.1436C>T	p.Ala479Val	p.A479V	ENST00000361200		479	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS30932.1	1436	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCATGGA	NONE	.	.	hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159	.	.	ENSP00000354483	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000361200	Transcript	.	.	ENSG00000198842	25034	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.31)	.	DUS27_HUMAN	DUSP27	HGNC	.	.	UPI000040DFF5	SNV	DUSP27,missense_variant,p.Ala479Val,ENST00000361200,;DUSP27,missense_variant,p.Ala479Val,ENST00000443333,;DUSP27,missense_variant,p.Ala479Val,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	1602	248	233	SUCCESS
SMG7	9887	.	GRCh37	1	183520230	183520230	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	196	10	168	1	ENST00000347615.2:c.3205A>C	p.Ser1069Arg	p.S1069R	ENST00000347615	NM_173156.2	1069	Agc/Cgc	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS41445.2	3217	MUTECT|MUSE	.	CTGAGAGCAGT	NONE	.	.	.	.	.	ENSP00000425133	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.355)	.	deleterious_low_confidence(0)	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,missense_variant,p.Ser1102Arg,ENST00000367537,;SMG7,missense_variant,p.Ser1073Arg,ENST00000507469,;SMG7,missense_variant,p.Ser1069Arg,ENST00000347615,;SMG7,missense_variant,p.Ser981Arg,ENST00000456731,;SMG7,missense_variant,p.Ser1077Arg,ENST00000508461,;SMG7,missense_variant,p.Ser1023Arg,ENST00000515829,;NCF2,downstream_gene_variant,,ENST00000413720,;SMG7,downstream_gene_variant,,ENST00000419169,;NCF2,downstream_gene_variant,,ENST00000367536,;NCF2,downstream_gene_variant,,ENST00000367535,;NCF2,downstream_gene_variant,,ENST00000418089,;SMG7,non_coding_transcript_exon_variant,,ENST00000495321,;SMG7,downstream_gene_variant,,ENST00000493045,;	3335	169	206	SUCCESS
SMG7	9887	.	GRCh37	1	183520238	183520238	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	195	9	170	1	ENST00000347615.2:c.3213G>A	p.Trp1071Ter	p.W1071*	ENST00000347615	NM_173156.2	1071	tgG/tgA	0	.	.	.	.	.	A	W/*	protein_coding	YES	CCDS41445.2	3225	MUTECT|MUSE	.	AGTTGGCATCA	NONE	.	.	.	.	.	ENSP00000425133	.	22/23	.	.	.	.	.	.	.	.	.	22/23	PASS	ENST00000507469	Transcript	.	.	ENSG00000116698	16792	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMG7_HUMAN	SMG7	HGNC	Q96N31_HUMAN,B1ALB4_HUMAN	.	UPI0000D6205B	SNV	SMG7,stop_gained,p.Trp1104Ter,ENST00000367537,;SMG7,stop_gained,p.Trp1075Ter,ENST00000507469,;SMG7,stop_gained,p.Trp1071Ter,ENST00000347615,;SMG7,stop_gained,p.Trp983Ter,ENST00000456731,;SMG7,stop_gained,p.Trp1079Ter,ENST00000508461,;SMG7,stop_gained,p.Trp1025Ter,ENST00000515829,;NCF2,downstream_gene_variant,,ENST00000413720,;SMG7,downstream_gene_variant,,ENST00000419169,;NCF2,downstream_gene_variant,,ENST00000367536,;NCF2,downstream_gene_variant,,ENST00000367535,;NCF2,downstream_gene_variant,,ENST00000418089,;SMG7,non_coding_transcript_exon_variant,,ENST00000495321,;SMG7,downstream_gene_variant,,ENST00000493045,;	3343	171	204	SUCCESS
CENPF	1063	.	GRCh37	1	214816125	214816125	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	38	63	1	ENST00000366955.3:c.4444C>T	p.Pro1482Ser	p.P1482S	ENST00000366955	NM_016343.3	1482	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS31023.1	4444	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCCTGAC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18874	.	.	ENSP00000355922	.	12/20	.	.	.	.	.	.	.	.	.	12/20	PASS	ENST00000366955	Transcript	.	.	ENSG00000117724	1857	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	.	.	CENPF_HUMAN	CENPF	HGNC	.	.	UPI00001AE985	SNV	CENPF,missense_variant,p.Pro1482Ser,ENST00000366955,;	4612	64	103	SUCCESS
DNAH14	127602	.	GRCh37	1	225373092	225373092	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	178	50	176	0	ENST00000445597.2:c.4354T>C	p.Phe1452Leu	p.F1452L	ENST00000445597		1452	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	.	.	2851	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACTTCTTA	NONE	.	.	Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF132	.	.	ENSP00000332424	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000328556	Transcript	.	.	ENSG00000185842	2945	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.98)	.	.	DNAH14	HGNC	H9KV43_HUMAN	.	UPI000198C4F6	SNV	DNAH14,missense_variant,p.Phe951Leu,ENST00000328556,;DNAH14,missense_variant,p.Phe1452Leu,ENST00000445597,;DNAH14,missense_variant,p.Phe1857Leu,ENST00000430092,;DNAH14,missense_variant,p.Phe1857Leu,ENST00000439375,;	2851	176	228	SUCCESS
OR2M3	127062	.	GRCh37	1	248367144	248367144	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs146260073	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	76	164	0	ENST00000456743.1:c.775T>C	p.Tyr259His	p.Y259H	ENST00000456743	NM_001004689.1	259	Tac/Cac	0	C:0.0045	C:0.0061	.	C:0	.	C	Y/H	protein_coding	YES	CCDS31107.1	775	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATGTACATA	BUFFER|p.R261W|c.781C>T|4	byFrequency|byCluster|by1000G	.	Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	C:0	C:0	ENSP00000389625	C:0	1/1	.	.	.	.	.	.	.	.	rs146260073	1/1	common_in_exac	ENST00000456743	Transcript	.	C:0.0016	ENSG00000228198	8269	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	C:0	deleterious(0)	.	OR2M3_HUMAN	OR2M3	HGNC	.	.	UPI000004B234	SNV	OR2M3,missense_variant,p.Tyr259His,ENST00000456743,;	813	164	171	SUCCESS
ARID1A	8289	.	GRCh37	1	27106649	27106649	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	115	0	ENST00000324856.7:c.6260G>A	p.Gly2087Glu	p.G2087E	ENST00000324856	NM_006015.4	2087	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS285.1	6260	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGGACTCC	CODON|p.G2087R|c.6259G>A|5	.	.	hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Pfam_domain:PF12031	.	.	ENSP00000320485	.	20/20	.	.	.	.	.	.	.	.	COSM251421	20/20	PASS	ENST00000324856	Transcript	.	.	ENSG00000117713	11110	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	.	1	ARI1A_HUMAN	ARID1A	HGNC	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN	.	UPI0000167B91	SNV	ARID1A,missense_variant,p.Gly1870Glu,ENST00000457599,;ARID1A,missense_variant,p.Gly1704Glu,ENST00000374152,;ARID1A,missense_variant,p.Gly984Glu,ENST00000430799,;ARID1A,missense_variant,p.Gly415Glu,ENST00000540690,;ARID1A,missense_variant,p.Gly2087Glu,ENST00000324856,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;	6631	115	98	SUCCESS
ARHGEF16	27237	.	GRCh37	1	3388265	3388265	+	intron_variant	Intron	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	12	68	0	ENST00000378378.4:c.1023-1377G>T		p.*341*	ENST00000378378	NM_014448.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGGGCGG	NONE	.	.	.	.	.	ENSP00000367629	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378378	Transcript	.	.	ENSG00000130762	15515	.	.	MODIFIER	6/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGG_HUMAN	ARHGEF16	HGNC	B0QZD3_HUMAN	.	UPI00002039A3	SNV	ARHGEF16,missense_variant,p.Gly15Val,ENST00000413250,;ARHGEF16,missense_variant,p.Gly15Val,ENST00000418137,;ARHGEF16,intron_variant,,ENST00000445297,;ARHGEF16,intron_variant,,ENST00000378371,;ARHGEF16,intron_variant,,ENST00000378378,;ARHGEF16,intron_variant,,ENST00000378373,;ARHGEF16,non_coding_transcript_exon_variant,,ENST00000464620,;ARHGEF16,upstream_gene_variant,,ENST00000485984,;	.	68	72	SUCCESS
CSMD2	114784	.	GRCh37	1	34204787	34204787	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	19	94	0	ENST00000241312.4:c.2202G>A	p.Leu734=	p.L734=	ENST00000241312		734	ctG/ctA	0	.	.	.	.	.	T	L	nonsense_mediated_decay	YES	CCDS380.1	2202	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCAGGAC	BUFFER|p.V733I|c.2197G>A|3	.	.	Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923	.	.	ENSP00000241312	.	15/70	.	.	.	.	.	.	.	.	.	15/70	PASS	ENST00000241312	Transcript	.	.	ENSG00000121904	19290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSMD2_HUMAN	CSMD2	HGNC	.	.	UPI00004561AB	SNV	CSMD2,synonymous_variant,p.%3D,ENST00000373381,;CSMD2,synonymous_variant,p.%3D,ENST00000241312,;	2231	94	76	SUCCESS
CPXM1	56265	.	GRCh37	20	2775193	2775193	+	synonymous_variant	Silent	SNP	G	G	A	rs113052252	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	55	0	ENST00000380605.2:c.1953C>T	p.Asp651=	p.D651=	ENST00000380605	NM_001184699.1	651	gaC/gaT	0	A:0.0036	A:0.0129	.	A:0	.	A	D	protein_coding	YES	CCDS13033.1	1953	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACGTCATG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF43,Gene3D:2.60.40.1120,Pfam_domain:PF13620,SMART_domains:SM00631,Superfamily_domains:SSF49464	A:0	A:0	ENSP00000369979	A:0	13/14	.	.	.	.	.	.	.	.	rs113052252	13/14	common_in_exac	ENST00000380605	Transcript	.	A:0.0034	ENSG00000088882	15771	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CPXM1_HUMAN	CPXM1	HGNC	Q8N2F1_HUMAN,B4DZY4_HUMAN	.	UPI0000039DD0	SNV	CPXM1,synonymous_variant,p.%3D,ENST00000380605,;	2018	55	50	SUCCESS
HELZ2	85441	.	GRCh37	20	62198638	62198638	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	5	86	0	ENST00000467148.1:c.2073G>A	p.Val691=	p.V691=	ENST00000467148	NM_001037335.2	691	gtG/gtA	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS33508.1	2073	MUTECT|MUSE	.	GCCAGCACGAG	NONE	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Gene3D:3.40.50.300,Pfam_domain:PF13086,Superfamily_domains:SSF52540	.	.	ENSP00000417401	.	6/19	.	.	.	.	.	.	.	.	.	6/19	PASS	ENST00000467148	Transcript	.	.	ENSG00000130589	30021	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HELZ2_HUMAN	HELZ2	HGNC	Q3C1U4_HUMAN	.	UPI0000246BF7	SNV	HELZ2,synonymous_variant,p.%3D,ENST00000467148,;HELZ2,synonymous_variant,p.%3D,ENST00000427522,;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	2143	86	114	SUCCESS
MCM3AP	8888	.	GRCh37	21	47695145	47695145	+	synonymous_variant	Silent	SNP	G	G	A	rs1315970795	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	95	0	ENST00000291688.1:c.1953C>T	p.Thr651=	p.T651=	ENST00000291688	NM_003906.3	651	acC/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS13734.1	1953	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTACGGGTCTC	NONE	.	.	hmmpanther:PTHR12436:SF18,hmmpanther:PTHR12436	.	.	ENSP00000380820	.	7/29	.	.	.	.	.	.	.	.	.	7/29	PASS	ENST00000397708	Transcript	.	.	ENSG00000160294	6946	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GANP_HUMAN	MCM3AP	HGNC	N0GVG8_HUMAN,B3KWZ4_HUMAN	.	UPI000012ED4A	SNV	MCM3AP,synonymous_variant,p.%3D,ENST00000291688,;MCM3AP,synonymous_variant,p.%3D,ENST00000397708,;MCM3AP,upstream_gene_variant,,ENST00000479557,;	2208	96	77	SUCCESS
C21orf58	54058	.	GRCh37	21	47737220	47737220	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	15	0	ENST00000291691.7:c.310-38G>T		p.*104*	ENST00000291691	NM_058180.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13735.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCACGCA	NONE	.	.	.	.	.	ENSP00000291691	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291691	Transcript	.	.	ENSG00000160298	1300	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CU058_HUMAN	C21orf58	HGNC	H7C1T9_HUMAN	.	UPI0000231C71	SNV	C21orf58,5_prime_UTR_variant,,ENST00000397679,;C21orf58,5_prime_UTR_variant,,ENST00000397682,;C21orf58,5_prime_UTR_variant,,ENST00000397683,;C21orf58,intron_variant,,ENST00000397685,;C21orf58,intron_variant,,ENST00000417060,;C21orf58,intron_variant,,ENST00000445935,;C21orf58,intron_variant,,ENST00000291691,;C21orf58,intron_variant,,ENST00000397680,;C21orf58,intron_variant,,ENST00000491666,;C21orf58,intron_variant,,ENST00000475776,;	.	15	24	SUCCESS
POTEH	23784	.	GRCh37	22	16267031	16267031	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs767878136	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1205	84	1361	1	ENST00000343518.6:c.1418G>A	p.Gly473Asp	p.G473D	ENST00000343518	NM_001136213.1	473	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS46658.1	1418	MUTECT|MUSE	.	TGGCACCGTTA	NONE	byFrequency	.	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	.	.	ENSP00000340610	.	9/11	.	.	.	.	.	.	.	.	rs767878136	9/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.015)	.	tolerated_low_confidence(0.24)	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,missense_variant,p.Gly473Asp,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	1470	1363	1289	SUCCESS
REV1	51455	.	GRCh37	2	100058822	100058822	+	synonymous_variant	Silent	SNP	G	G	A	rs779318152	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	127	0	ENST00000258428.3:c.460C>T	p.Leu154=	p.L154=	ENST00000258428	NM_001037872.1	154	Ctg/Ttg	0	.	.	.	.	.	A	L	protein_coding	YES	CCDS2045.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGAGGAT	NONE	.	.	hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF13,PIRSF_domain:PIRSF036573	.	.	ENSP00000258428	.	5/23	.	.	.	.	.	.	.	.	rs779318152	5/23	PASS	ENST00000258428	Transcript	.	.	ENSG00000135945	14060	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REV1_HUMAN	REV1	HGNC	.	.	UPI0000073A14	SNV	REV1,synonymous_variant,p.%3D,ENST00000258428,;REV1,synonymous_variant,p.%3D,ENST00000393445,;REV1,upstream_gene_variant,,ENST00000450415,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,upstream_gene_variant,,ENST00000482887,;REV1,upstream_gene_variant,,ENST00000486117,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000473819,;REV1,upstream_gene_variant,,ENST00000491752,;	689	127	114	SUCCESS
BAZ2B	29994	.	GRCh37	2	160181399	160181399	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	307	13	344	0	ENST00000392783.2:c.6276A>G	p.Lys2092=	p.K2092=	ENST00000392783	NM_013450.2	2092	aaA/aaG	0	.	.	.	.	.	C	K	protein_coding	YES	CCDS2209.2	6276	MUTECT|MUSE	.	ACAAGTTTCAA	NONE	.	.	Prints_domain:PR00503,Superfamily_domains:SSF47370,SMART_domains:SM00297,Gene3D:1.20.920.10,Pfam_domain:PF00439,PROSITE_patterns:PS00633,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,PROSITE_profiles:PS50014	.	.	ENSP00000376534	.	36/37	.	.	.	.	.	.	.	.	.	36/37	PASS	ENST00000392783	Transcript	.	.	ENSG00000123636	963	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAZ2B_HUMAN	BAZ2B	HGNC	Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN	.	UPI0000D74C4A	SNV	BAZ2B,synonymous_variant,p.%3D,ENST00000355831,;BAZ2B,synonymous_variant,p.%3D,ENST00000392782,;BAZ2B,synonymous_variant,p.%3D,ENST00000343439,;BAZ2B,synonymous_variant,p.%3D,ENST00000392783,;BAZ2B,downstream_gene_variant,,ENST00000474437,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000548440,;	6772	344	320	SUCCESS
LRP2	4036	.	GRCh37	2	170002368	170002368	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	18	112	0	ENST00000263816.3:c.12877G>C	p.Glu4293Gln	p.E4293Q	ENST00000263816	NM_004525.2	4293	Gaa/Caa	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS2232.1	12877	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCTCCCT	NONE	.	.	Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	.	.	ENSP00000263816	.	70/79	.	.	.	.	.	.	.	.	.	70/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.725)	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,missense_variant,p.Glu4293Gln,ENST00000263816,;	13163	112	89	SUCCESS
WDR35	57539	.	GRCh37	2	20137511	20137511	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141979961	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	23	99	0	ENST00000345530.3:c.2293G>A	p.Asp765Asn	p.D765N	ENST00000345530	NM_001006657.1	765	Gac/Aac	0	.	T:0.0008	.	T:0	.	T	D/N	protein_coding	YES	CCDS33152.1	2293	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTCCATCT	NONE	byCluster|by1000G	.	hmmpanther:PTHR16517:SF1,hmmpanther:PTHR16517,PIRSF_domain:PIRSF037536	T:0	.	ENSP00000314444	T:0	20/28	.	.	.	.	.	.	.	.	rs141979961	20/28	PASS	ENST00000345530	Transcript	.	T:0.0002	ENSG00000118965	29250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	T:0	deleterious(0)	.	WDR35_HUMAN	WDR35	HGNC	.	.	UPI000034E5D3	SNV	WDR35,missense_variant,p.Asp330Asn,ENST00000416055,;WDR35,missense_variant,p.Asp765Asn,ENST00000345530,;WDR35,missense_variant,p.Asp754Asn,ENST00000281405,;WDR35,missense_variant,p.Asp300Asn,ENST00000453014,;WDR35,missense_variant,p.Asp765Asn,ENST00000414212,;WDR35,3_prime_UTR_variant,,ENST00000445063,;	2409	99	96	SUCCESS
FASTKD2	22868	.	GRCh37	2	207639082	207639082	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	25	75	0	ENST00000236980.6:c.1388A>C	p.Tyr463Ser	p.Y463S	ENST00000236980	NM_014929.3	463	tAc/tCc	0	.	.	.	.	.	C	Y/S	protein_coding	YES	CCDS2371.1	1388	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTACTCTT	NONE	.	.	Pfam_domain:PF06743,hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228	.	.	ENSP00000236980	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000236980	Transcript	.	.	ENSG00000118246	29160	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	FAKD2_HUMAN	FASTKD2	HGNC	C9JPI6_HUMAN	.	UPI0000073E9F	SNV	FASTKD2,missense_variant,p.Tyr463Ser,ENST00000402774,;FASTKD2,missense_variant,p.Tyr463Ser,ENST00000403094,;FASTKD2,missense_variant,p.Tyr463Ser,ENST00000236980,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;	1736	75	99	SUCCESS
APOB	338	.	GRCh37	2	21236228	21236228	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	22	117	0	ENST00000233242.1:c.4020del	p.Phe1340LeufsTer17	p.F1340Lfs*17	ENST00000233242	NM_000384.2	1340	ttT/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS1703.1	4020	VARSCANI*|PINDEL	.	AATGGTAAAAGT	NONE	.	.	hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	.	.	ENSP00000233242	.	25/29	.	.	.	.	.	.	.	.	.	25/29	PASS	ENST00000233242	Transcript	.	.	ENSG00000084674	603	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APOB_HUMAN	APOB	HGNC	S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN	.	UPI0000141B94	deletion	APOB,frameshift_variant,p.Phe1340LeufsTer17,ENST00000233242,;	4148	117	156	SUCCESS
DOCK10	55619	.	GRCh37	2	225750511	225750511	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	25	101	0	ENST00000258390.7:c.624G>A	p.Lys208=	p.K208=	ENST00000258390	NM_014689.2	208	aaG/aaA	0	.	.	.	.	.	T	K	protein_coding	YES	CCDS46528.1	624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCGCTTTTT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000258390	.	7/56	.	.	.	.	.	.	.	.	.	7/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,synonymous_variant,p.%3D,ENST00000258390,;DOCK10,synonymous_variant,p.%3D,ENST00000409592,;DOCK10,downstream_gene_variant,,ENST00000471810,;DOCK10,non_coding_transcript_exon_variant,,ENST00000543715,;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;	692	101	85	SUCCESS
DIS3L2	129563	.	GRCh37	2	233114009	233114009	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs776359062	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	79	0	ENST00000325385.7:c.1378G>A	p.Asp460Asn	p.D460N	ENST00000325385	NM_152383.4	460	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS42834.1	1378	MUTECT|MUSE	.	TGTCCGACAAG	NONE	.	.	HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Pfam_domain:PF00773,SMART_domains:SM00955,Superfamily_domains:SSF50249	.	.	ENSP00000315569	.	12/21	.	.	.	.	.	.	.	.	rs776359062	12/21	PASS	ENST00000325385	Transcript	.	.	ENSG00000144535	28648	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0.03)	.	DI3L2_HUMAN	DIS3L2	HGNC	H7C440_HUMAN,C9JGP4_HUMAN	.	UPI000004BF03	SNV	DIS3L2,missense_variant,p.Asp95Asn,ENST00000424049,;DIS3L2,missense_variant,p.Asp460Asn,ENST00000273009,;DIS3L2,missense_variant,p.Asp460Asn,ENST00000325385,;DIS3L2,missense_variant,p.Asp460Asn,ENST00000409307,;DIS3L2,upstream_gene_variant,,ENST00000498319,;DIS3L2,missense_variant,p.Asp460Asn,ENST00000390005,;DIS3L2,3_prime_UTR_variant,,ENST00000445090,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;	1654	79	60	SUCCESS
TTC7A	57217	.	GRCh37	2	47184111	47184111	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	24	116	0	ENST00000319190.5:c.482A>G	p.Gln161Arg	p.Q161R	ENST00000319190	NM_020458.2	161	cAg/cGg	0	.	.	.	.	.	G	Q/R	protein_coding	YES	CCDS33193.1	482	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCAGATGC	NONE	.	.	hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF342	.	.	ENSP00000316699	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000319190	Transcript	.	.	ENSG00000068724	19750	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(1)	.	TTC7A_HUMAN	TTC7A	HGNC	F5H4E1_HUMAN	.	UPI00001BDC89	SNV	TTC7A,missense_variant,p.Gln161Arg,ENST00000394850,;TTC7A,missense_variant,p.Gln161Arg,ENST00000319190,;TTC7A,missense_variant,p.Gln127Arg,ENST00000409245,;TTC7A,5_prime_UTR_variant,,ENST00000263737,;RP11-15I20.1,upstream_gene_variant,,ENST00000607950,;TTC7A,non_coding_transcript_exon_variant,,ENST00000461601,;TTC7A,missense_variant,p.Gln161Arg,ENST00000441914,;TTC7A,3_prime_UTR_variant,,ENST00000409825,;	850	116	119	SUCCESS
CNGA3	1261	.	GRCh37	2	99013428	99013428	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs376992789	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	97	0	ENST00000272602.2:c.1795G>A	p.Glu599Lys	p.E599K	ENST00000272602		599	Gag/Aag	0	A:0.0005	.	.	.	.	A	E/K	protein_coding	YES	CCDS2034.1	1795	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGAGGAG	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF51206,SMART_domains:SM00100,Gene3D:2.60.120.10,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390	.	A:0	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	rs376992789	8/8	PASS	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.418)	.	deleterious(0.01)	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,missense_variant,p.Glu603Lys,ENST00000409937,;CNGA3,missense_variant,p.Glu581Lys,ENST00000436404,;CNGA3,missense_variant,p.Glu599Lys,ENST00000393504,;CNGA3,missense_variant,p.Glu599Lys,ENST00000272602,;	2212	97	83	SUCCESS
KALRN	8997	.	GRCh37	3	124160836	124160836	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	288	85	380	0	ENST00000240874.3:c.3237C>T	p.Tyr1079=	p.Y1079=	ENST00000240874	NM_003947.4	1079	taC/taT	0	.	.	.	.	.	T	Y	protein_coding	YES	CCDS3027.1	3237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTACATCCA	NONE	.	.	hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49	.	.	ENSP00000240874	.	19/34	.	.	.	.	.	.	.	.	.	19/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,synonymous_variant,p.%3D,ENST00000240874,;KALRN,synonymous_variant,p.%3D,ENST00000460856,;KALRN,synonymous_variant,p.%3D,ENST00000354186,;KALRN,synonymous_variant,p.%3D,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;	3394	380	373	SUCCESS
KALRN	8997	.	GRCh37	3	124210191	124210191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	89	0	ENST00000240874.3:c.4603G>A	p.Glu1535Lys	p.E1535K	ENST00000240874	NM_003947.4	1535	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS3027.1	4603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCGAGCAC	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000240874	.	31/34	.	.	.	.	.	.	.	.	.	31/34	PASS	ENST00000240874	Transcript	.	.	ENSG00000160145	4814	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.412)	.	deleterious(0)	.	KALRN_HUMAN	KALRN	HGNC	.	.	UPI000012C095	SNV	KALRN,missense_variant,p.Glu1535Lys,ENST00000240874,;KALRN,missense_variant,p.Glu1526Lys,ENST00000460856,;KALRN,missense_variant,p.Glu1504Lys,ENST00000354186,;KALRN,missense_variant,p.Glu1535Lys,ENST00000360013,;KALRN,non_coding_transcript_exon_variant,,ENST00000473056,;KALRN,downstream_gene_variant,,ENST00000393501,;	4760	89	87	SUCCESS
FGD5	152273	.	GRCh37	3	14860691	14860691	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368711724	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	60	237	0	ENST00000285046.5:c.113G>T	p.Arg38Leu	p.R38L	ENST00000285046	NM_152536.3	38	cGg/cTg	0	A:0.0029	A:0.0045	.	A:0	.	T	R/L	protein_coding	YES	CCDS46767.1	113	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCGGCTGC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000285046	A:0	1/20	.	.	.	.	.	.	.	.	rs368711724	1/20	PASS	ENST00000285046	Transcript	.	A:0.0014	ENSG00000154783	19117	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.199)	A:0.001	deleterious_low_confidence(0)	.	FGD5_HUMAN	FGD5	HGNC	A3KMQ0_HUMAN	.	UPI00002372AE	SNV	FGD5,missense_variant,p.Arg38Leu,ENST00000285046,;FGD5,upstream_gene_variant,,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	223	237	185	SUCCESS
BTD	686	.	GRCh37	3	15686574	15686574	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs397514405	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	25	96	0	ENST00000303498.5:c.1211C>A	p.Thr404Asn	p.T404N	ENST00000303498	NM_000060.2	404	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS2628.1	1211	RADIA|MUTECT|MUSE	pathogenic	TTTCACCCTGG	NONE	.	.	hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,PIRSF_domain:PIRSF011861	.	.	ENSP00000306477	.	4/4	.	.	.	.	.	.	.	.	rs397514405,CM021516	4/4	PASS	ENST00000303498	Transcript	.	.	ENSG00000169814	1122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	1,1	.	12227467	probably_damaging(0.994)	.	tolerated(0.14)	.	BTD_HUMAN	BTD	HGNC	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN	.	UPI000013E8A8	SNV	BTD,missense_variant,p.Thr384Asn,ENST00000383778,;BTD,missense_variant,p.Thr406Asn,ENST00000437172,;BTD,missense_variant,p.Thr404Asn,ENST00000303498,;BTD,missense_variant,p.Thr406Asn,ENST00000449107,;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;	1320	96	114	SUCCESS
BTD	686	.	GRCh37	3	15686579	15686579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	24	93	0	ENST00000303498.5:c.1216G>T	p.Val406Phe	p.V406F	ENST00000303498	NM_000060.2	406	Gtc/Ttc	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS2628.1	1216	RADIA|MUTECT|MUSE	.	CCCTGGTCCCT	NONE	.	.	hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,PIRSF_domain:PIRSF011861	.	.	ENSP00000306477	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000303498	Transcript	.	.	ENSG00000169814	1122	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.924)	.	deleterious(0.01)	.	BTD_HUMAN	BTD	HGNC	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN	.	UPI000013E8A8	SNV	BTD,missense_variant,p.Val386Phe,ENST00000383778,;BTD,missense_variant,p.Val408Phe,ENST00000437172,;BTD,missense_variant,p.Val406Phe,ENST00000303498,;BTD,missense_variant,p.Val408Phe,ENST00000449107,;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;	1325	93	116	SUCCESS
AP2M1	1173	.	GRCh37	3	183898987	183899008	+	frameshift_variant	Frame_Shift_Del	DEL	AAGGCACAGCTGATGAAACAAG	AAGGCACAGCTGATGAAACAAG	-	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	AAGGCACAGCTGATGAAACAAG	AAGGCACAGCTGATGAAACAAG	.	.	.	.	.	.	.	.	.	.	.	.	.	137	26	248	0	ENST00000292807.5:c.680_701del	p.Lys227ThrfsTer42	p.K227Tfs*42	ENST00000292807	NM_004068.3	227	aAAGGCACAGCTGATGAAACAAGc/ac	0	.	.	.	.	.	-	KGTADETS/X	protein_coding	YES	CCDS43177.1	680-701	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGGCAAAGGCACAGCTGATGAAACAAGCAAGA	NONE	.	.	PROSITE_profiles:PS51072,hmmpanther:PTHR11998,Gene3D:2.60.40.1170,Pfam_domain:PF00928,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852	.	.	ENSP00000292807	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000292807	Transcript	.	.	ENSG00000161203	564	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AP2M1_HUMAN	AP2M1	HGNC	C9JJD3_HUMAN	.	UPI0000000DD8	deletion	AP2M1,frameshift_variant,p.Lys227ThrfsTer42,ENST00000292807,;AP2M1,frameshift_variant,p.Lys156ThrfsTer42,ENST00000432591,;AP2M1,frameshift_variant,p.Lys252ThrfsTer42,ENST00000411763,;AP2M1,frameshift_variant,p.Lys225ThrfsTer42,ENST00000382456,;AP2M1,frameshift_variant,p.Lys225ThrfsTer42,ENST00000439647,;EIF2B5,intron_variant,,ENST00000444495,;AP2M1,downstream_gene_variant,,ENST00000455925,;AP2M1,downstream_gene_variant,,ENST00000431779,;AP2M1,downstream_gene_variant,,ENST00000427072,;ABCF3,upstream_gene_variant,,ENST00000429586,;AP2M1,downstream_gene_variant,,ENST00000448139,;AP2M1,upstream_gene_variant,,ENST00000442686,;ABCF3,upstream_gene_variant,,ENST00000292808,;AP2M1,non_coding_transcript_exon_variant,,ENST00000461733,;AP2M1,downstream_gene_variant,,ENST00000460862,;AP2M1,non_coding_transcript_exon_variant,,ENST00000490151,;AP2M1,non_coding_transcript_exon_variant,,ENST00000468048,;AP2M1,non_coding_transcript_exon_variant,,ENST00000476434,;AP2M1,non_coding_transcript_exon_variant,,ENST00000472560,;AP2M1,downstream_gene_variant,,ENST00000484469,;ABCF3,upstream_gene_variant,,ENST00000481116,;AP2M1,downstream_gene_variant,,ENST00000487958,;ABCF3,upstream_gene_variant,,ENST00000498136,;ABCF3,upstream_gene_variant,,ENST00000421340,;AP2M1,downstream_gene_variant,,ENST00000466598,;AP2M1,upstream_gene_variant,,ENST00000480260,;ABCF3,upstream_gene_variant,,ENST00000473311,;ABCF3,upstream_gene_variant,,ENST00000466416,;ABCF3,upstream_gene_variant,,ENST00000478288,;ABCF3,upstream_gene_variant,,ENST00000463685,;ABCF3,upstream_gene_variant,,ENST00000485921,;AP2M1,upstream_gene_variant,,ENST00000463935,;	828-849	248	163	SUCCESS
TNK2	10188	.	GRCh37	3	195615340	195615340	+	synonymous_variant	Silent	SNP	G	G	A	rs142308594	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	146	0	ENST00000333602.6:c.120C>T	p.Tyr40=	p.Y40=	ENST00000333602	NM_005781.4	40	taC/taT	0	A:0	.	.	.	.	A	Y	protein_coding	YES	CCDS33927.1	309	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACGTACTC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66	.	A:0.0007	ENSP00000371341	.	2/15	.	.	.	.	.	.	.	.	rs142308594	2/15	PASS	ENST00000381916	Transcript	.	.	ENSG00000061938	19297	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACK1_HUMAN	TNK2	HGNC	C9JDG3_HUMAN	.	UPI00004C9B08	SNV	TNK2,synonymous_variant,p.%3D,ENST00000428187,;TNK2,synonymous_variant,p.%3D,ENST00000333602,;TNK2,synonymous_variant,p.%3D,ENST00000316664,;TNK2,synonymous_variant,p.%3D,ENST00000381916,;TNK2,synonymous_variant,p.%3D,ENST00000427576,;TNK2,synonymous_variant,p.%3D,ENST00000438207,;TNK2,synonymous_variant,p.%3D,ENST00000392400,;TNK2,synonymous_variant,p.%3D,ENST00000433111,;TNK2,non_coding_transcript_exon_variant,,ENST00000468819,;TNK2,intron_variant,,ENST00000486523,;TNK2,synonymous_variant,p.%3D,ENST00000439230,;TNK2,synonymous_variant,p.%3D,ENST00000447060,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,upstream_gene_variant,,ENST00000430929,;TNK2,upstream_gene_variant,,ENST00000481865,;	454	146	127	SUCCESS
PDCD6IP	10015	.	GRCh37	3	33883512	33883512	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	73	335	0	ENST00000307296.3:c.1305G>A	p.Gln435=	p.Q435=	ENST00000307296		435	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS54561.1	1320	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCAGTTGAT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23030:SF19,hmmpanther:PTHR23030,Pfam_domain:PF13949,Gene3D:2xs1A03	.	.	ENSP00000411825	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000457054	Transcript	.	.	ENSG00000170248	8766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDC6I_HUMAN	PDCD6IP	HGNC	.	.	UPI00004121D3	SNV	PDCD6IP,synonymous_variant,p.%3D,ENST00000457054,;PDCD6IP,synonymous_variant,p.%3D,ENST00000307296,;PDCD6IP,intron_variant,,ENST00000412887,;PDCD6IP,upstream_gene_variant,,ENST00000465122,;PDCD6IP,downstream_gene_variant,,ENST00000487821,;	1475	335	273	SUCCESS
ITGA9	3680	.	GRCh37	3	37670698	37670698	+	synonymous_variant	Silent	SNP	C	C	T	rs145334938	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	118	34	192	1	ENST00000264741.5:c.1710C>T	p.Ile570=	p.I570=	ENST00000264741	NM_002207.2	570	atC/atT	0	T:0.0023	T:0.003	.	T:0	.	T	I	protein_coding	YES	CCDS2669.1	1710	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATCAGCCC	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A02,Superfamily_domains:SSF69179,Prints_domain:PR01185	T:0	T:0	ENSP00000264741	T:0	16/28	.	.	.	.	.	.	.	.	rs145334938	16/28	PASS	ENST00000264741	Transcript	.	T:0.0008	ENSG00000144668	6145	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ITA9_HUMAN	ITGA9	HGNC	.	.	UPI00001AE8BB	SNV	ITGA9,synonymous_variant,p.%3D,ENST00000264741,;ITGA9,synonymous_variant,p.%3D,ENST00000422441,;	1966	193	152	SUCCESS
PTH1R	5745	.	GRCh37	3	46925049	46925049	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	83	0	ENST00000313049.5:c.-1G>C		p.*1*	ENST00000313049				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGATGGG	NONE	.	.	.	.	.	ENSP00000321999	.	1/14	.	.	.	.	.	.	.	.	.	1/14	PASS	ENST00000313049	Transcript	.	.	ENSG00000160801	9608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTH1R_HUMAN	PTH1R	HGNC	Q71UK6_HUMAN,E7EWE7_HUMAN	.	UPI000005041F	SNV	PTH1R,5_prime_UTR_variant,,ENST00000430002,;PTH1R,5_prime_UTR_variant,,ENST00000427125,;PTH1R,5_prime_UTR_variant,,ENST00000418619,;PTH1R,5_prime_UTR_variant,,ENST00000449590,;PTH1R,5_prime_UTR_variant,,ENST00000313049,;AC109583.1,downstream_gene_variant,,ENST00000593391,;MYL3,upstream_gene_variant,,ENST00000431168,;PTH1R,5_prime_UTR_variant,,ENST00000428220,;	203	84	75	SUCCESS
RAD54L2	23132	.	GRCh37	3	51671348	51671348	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	115	0	ENST00000409535.2:c.1511G>A	p.Cys504Tyr	p.C504Y	ENST00000409535	NM_015106.2	504	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS33765.2	1511	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTGCATGG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000386520	.	10/22	.	.	.	.	.	.	.	.	COSM1046716	10/22	PASS	ENST00000409535	Transcript	.	.	ENSG00000164080	29123	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	ARIP4_HUMAN	RAD54L2	HGNC	E7EU19_HUMAN	.	UPI000022C0AA	SNV	RAD54L2,missense_variant,p.Cys198Tyr,ENST00000296477,;RAD54L2,missense_variant,p.Cys333Tyr,ENST00000432863,;RAD54L2,missense_variant,p.Cys504Tyr,ENST00000409535,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;	1636	115	92	SUCCESS
ROBO2	6092	.	GRCh37	3	77612353	77612353	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	21	80	0	ENST00000461745.1:c.1555A>G	p.Ser519Gly	p.S519G	ENST00000461745	NM_002942.4	519	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS54609.1	1603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAAGTGAC	NONE	.	.	hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000417335	.	12/27	.	.	.	.	.	.	.	.	.	12/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.26)	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,missense_variant,p.Ser519Gly,ENST00000332191,;ROBO2,missense_variant,p.Ser539Gly,ENST00000602589,;ROBO2,missense_variant,p.Ser519Gly,ENST00000461745,;ROBO2,missense_variant,p.Ser535Gly,ENST00000487694,;ROBO2,missense_variant,p.Ser519Gly,ENST00000473767,;	1882	80	88	SUCCESS
EPHA3	2042	.	GRCh37	3	89480491	89480491	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	14	128	0	ENST00000336596.2:c.2328A>G	p.Glu776=	p.E776=	ENST00000336596	NM_005233.5	776	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS2922.1	2328	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGAAGCTGC	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000337451	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,synonymous_variant,p.%3D,ENST00000494014,;EPHA3,synonymous_variant,p.%3D,ENST00000336596,;	2553	128	122	SUCCESS
ZNF732	654254	.	GRCh37	4	265506	265506	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	8	98	0	ENST00000419098.1:c.1140T>G	p.His380Gln	p.H380Q	ENST00000419098	NM_001137608.1	380	caT/caG	0	.	.	.	.	.	C	H/Q	protein_coding	YES	CCDS46990.1	1140	MUTECT|MUSE|VARSCANS	.	CTCTTATGTTT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF81,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000415774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419098	Transcript	.	.	ENSG00000186777	37138	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	ZN732_HUMAN	ZNF732	HGNC	.	.	UPI00017A8291	SNV	ZNF732,missense_variant,p.His380Gln,ENST00000419098,;RP11-478C6.5,upstream_gene_variant,,ENST00000507882,;RP11-478C6.6,upstream_gene_variant,,ENST00000511111,;	1151	98	92	SUCCESS
PCDH7	5099	.	GRCh37	4	30724272	30724272	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	201	79	279	0	ENST00000361762.2:c.1228G>A	p.Asp410Asn	p.D410N	ENST00000361762	NM_002589.2	410	Gac/Aac	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54753.1	1228	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACGACAAC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF14,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	.	.	ENSP00000441802	.	1/3	.	.	.	.	.	.	.	.	COSM733612	1/3	PASS	ENST00000543491	Transcript	.	.	ENSG00000169851	8659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0.01)	1	.	PCDH7	HGNC	F5GWJ1_HUMAN	.	UPI0001CB27C3	SNV	PCDH7,missense_variant,p.Asp100Asn,ENST00000511884,;PCDH7,missense_variant,p.Asp410Asn,ENST00000543491,;PCDH7,missense_variant,p.Asp410Asn,ENST00000361762,;PCDH7,upstream_gene_variant,,ENST00000507864,;	1228	279	281	SUCCESS
HTT	3064	.	GRCh37	4	3208260	3208260	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	39	126	0	ENST00000355072.5:c.5756T>G	p.Leu1919Arg	p.L1919R	ENST00000355072	NM_002111.6	1919	cTc/cGc	0	.	.	.	.	.	G	L/R	protein_coding	YES	CCDS43206.1	5756	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCTCATTG	NONE	.	.	hmmpanther:PTHR10170:SF10,hmmpanther:PTHR10170	.	.	ENSP00000347184	.	43/67	.	.	.	.	.	.	.	.	.	43/67	PASS	ENST00000355072	Transcript	1	.	ENSG00000197386	4851	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	.	.	HD_HUMAN	HTT	HGNC	D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN	.	UPI000013D567	SNV	HTT,missense_variant,p.Leu1919Arg,ENST00000355072,;HTT,non_coding_transcript_exon_variant,,ENST00000502820,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;	5901	126	118	SUCCESS
TMEM33	55161	.	GRCh37	4	41946817	41946817	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	98	0	ENST00000325094.5:c.404G>C	p.Gly135Ala	p.G135A	ENST00000325094		135	gGc/gCc	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS3464.1	404	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGGCTCAA	NONE	.	.	Pfam_domain:PF03661,hmmpanther:PTHR12703	.	.	ENSP00000422473	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000504986	Transcript	.	.	ENSG00000109133	25541	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.603)	.	deleterious(0)	.	TMM33_HUMAN	TMEM33	HGNC	D6RAA6_HUMAN	.	UPI000004C095	SNV	TMEM33,missense_variant,p.Gly69Ala,ENST00000513558,;TMEM33,missense_variant,p.Gly135Ala,ENST00000513702,;TMEM33,missense_variant,p.Gly135Ala,ENST00000325094,;TMEM33,missense_variant,p.Gly135Ala,ENST00000508448,;TMEM33,missense_variant,p.Gly135Ala,ENST00000504986,;TMEM33,3_prime_UTR_variant,,ENST00000506794,;TMEM33,3_prime_UTR_variant,,ENST00000264452,;TMEM33,downstream_gene_variant,,ENST00000510383,;	769	98	69	SUCCESS
ODAM	54959	.	GRCh37	4	71067172	71067172	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	427	141	622	1	ENST00000396094.2:c.530T>C	p.Ile177Thr	p.I177T	ENST00000396094	NM_017855.3	177	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3536.2	530	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATACCAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR16237,hmmpanther:PTHR16237:SF2,Pfam_domain:PF15424	.	.	ENSP00000379401	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000396094	Transcript	.	.	ENSG00000109205	26043	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	deleterious(0.03)	.	ODAM_HUMAN	ODAM	HGNC	.	.	UPI0000413A02	SNV	ODAM,missense_variant,p.Ile177Thr,ENST00000396094,;ODAM,missense_variant,p.Ile163Thr,ENST00000510709,;ODAM,intron_variant,,ENST00000514097,;ODAM,splice_region_variant,,ENST00000510847,;ODAM,downstream_gene_variant,,ENST00000506248,;	578	623	568	SUCCESS
ALB	213	.	GRCh37	4	74276080	74276096	+	frameshift_variant	Frame_Shift_Del	DEL	AAGTGTGCCAGTCTCCA	AAGTGTGCCAGTCTCCA	-	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	AAGTGTGCCAGTCTCCA	AAGTGTGCCAGTCTCCA	.	.	.	.	.	.	.	.	.	.	.	.	.	230	39	334	0	ENST00000295897.4:c.669_685del	p.Cys224IlefsTer22	p.C224Ifs*22	ENST00000295897	NM_000477.5	223	AAGTGTGCCAGTCTCCAa/a	0	.	.	.	.	.	-	KCASLQ/X	protein_coding	YES	CCDS3555.1	667-683	INDELOCATOR|VARSCANI	.	AGACTCAAGTGTGCCAGTCTCCAAAAAT	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000295897	.	6/15	.	.	.	.	.	.	.	.	.	6/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,frameshift_variant,p.Cys224IlefsTer22,ENST00000509063,;ALB,frameshift_variant,p.Cys69IlefsTer22,ENST00000511370,;ALB,frameshift_variant,p.Cys224IlefsTer22,ENST00000295897,;ALB,frameshift_variant,p.Cys74IlefsTer22,ENST00000503124,;ALB,frameshift_variant,p.Cys109IlefsTer22,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,frameshift_variant,p.Ser89LysfsTer382,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;	756-772	334	269	SUCCESS
CCDC158	339965	.	GRCh37	4	77303825	77303825	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	53	0	ENST00000388914.3:c.852T>C	p.Thr284=	p.T284=	ENST00000388914	NM_001042784.1	284	acT/acC	0	.	.	.	.	.	G	T	protein_coding	YES	CCDS43242.1	852	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCAGTAAG	NONE	.	.	hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140	.	.	ENSP00000373566	.	7/24	.	.	.	.	.	.	.	.	.	7/24	PASS	ENST00000388914	Transcript	.	.	ENSG00000163749	26374	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD158_HUMAN	CCDC158	HGNC	.	.	UPI00004DF23B	SNV	CCDC158,synonymous_variant,p.%3D,ENST00000434846,;CCDC158,synonymous_variant,p.%3D,ENST00000388914,;CCDC158,downstream_gene_variant,,ENST00000509851,;	1005	53	58	SUCCESS
ST8SIA4	7903	.	GRCh37	5	100221992	100221992	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	89	0	ENST00000231461.5:c.503+55G>T		p.*168*	ENST00000231461	NM_005668.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4091.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCCAAGT	NONE	.	.	.	.	.	ENSP00000231461	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231461	Transcript	.	.	ENSG00000113532	10871	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIA8D_HUMAN	ST8SIA4	HGNC	.	.	UPI0000135973	SNV	ST8SIA4,3_prime_UTR_variant,,ENST00000451528,;ST8SIA4,intron_variant,,ENST00000231461,;ST8SIA4,downstream_gene_variant,,ENST00000507360,;	.	89	64	SUCCESS
HMGXB3	22993	.	GRCh37	5	149389802	149389802	+	synonymous_variant	Silent	SNP	A	A	G	rs556640934	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	24	97	0	ENST00000502717.1:c.441A>G	p.Leu147=	p.L147=	ENST00000502717	NM_014983.2	147	ctA/ctG	0	.	G:0.0008	.	G:0	.	G	L	protein_coding	YES	CCDS54935.1	441	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCTAGAGCT	NONE	by1000G	.	hmmpanther:PTHR17609:SF0,hmmpanther:PTHR17609	G:0	.	ENSP00000421917	G:0	4/20	.	.	.	.	.	.	.	.	rs556640934	4/20	PASS	ENST00000502717	Transcript	.	G:0.0002	ENSG00000113716	28982	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	HMGX3_HUMAN	HMGXB3	HGNC	Q6P442_HUMAN	.	UPI00001C1E29	SNV	HMGXB3,synonymous_variant,p.%3D,ENST00000502717,;HMGXB3,synonymous_variant,p.%3D,ENST00000503427,;AC011406.2,downstream_gene_variant,,ENST00000512440,;	905	97	97	SUCCESS
GABRB2	2561	.	GRCh37	5	160757935	160757935	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	32	138	0	ENST00000274547.2:c.1032G>T	p.Lys344Asn	p.K344N	ENST00000274547	NM_000813.2	344	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS4355.1	1032	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCTTCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	.	.	ENSP00000274547	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000274547	Transcript	.	.	ENSG00000145864	4082	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.061)	.	tolerated(0.06)	.	GBRB2_HUMAN	GABRB2	HGNC	D1M715_HUMAN	.	UPI000002AA29	SNV	GABRB2,missense_variant,p.Lys344Asn,ENST00000274547,;GABRB2,missense_variant,p.Lys184Asn,ENST00000517547,;GABRB2,missense_variant,p.Lys344Asn,ENST00000520240,;GABRB2,missense_variant,p.Lys344Asn,ENST00000393959,;GABRB2,missense_variant,p.Lys344Asn,ENST00000353437,;GABRB2,missense_variant,p.Lys281Asn,ENST00000517901,;	1250	139	104	SUCCESS
STC2	8614	.	GRCh37	5	172752987	172752987	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs770708060	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	28	161	0	ENST00000265087.4:c.178G>A	p.Ala60Thr	p.A60T	ENST00000265087	NM_003714.2	60	Gct/Act	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS4388.1	178	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCGTTGA	NONE	byFrequency	.	Pfam_domain:PF03298,hmmpanther:PTHR11245,hmmpanther:PTHR11245:SF2	.	.	ENSP00000265087	.	2/4	.	.	.	.	.	.	.	.	rs770708060	2/4	PASS	ENST00000265087	Transcript	.	.	ENSG00000113739	11374	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.527)	.	deleterious(0)	.	STC2_HUMAN	STC2	HGNC	Q6FHC9_HUMAN,E5RG57_HUMAN,B3KNF2_HUMAN	.	UPI00001360B8	SNV	STC2,missense_variant,p.Ala60Thr,ENST00000265087,;STC2,missense_variant,p.Ala14Thr,ENST00000520648,;STC2,5_prime_UTR_variant,,ENST00000518455,;STC2,upstream_gene_variant,,ENST00000520593,;STC2,non_coding_transcript_exon_variant,,ENST00000519511,;	1488	161	139	SUCCESS
ATG5	9474	.	GRCh37	6	106740950	106740950	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	312	19	273	0	ENST00000343245.3:c.268C>T	p.Leu90Phe	p.L90F	ENST00000343245	NM_001286106.1	90	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS5055.1	268	MUTECT|MUSE	.	TGCAAGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13040:SF2,hmmpanther:PTHR13040,Pfam_domain:PF04106	.	.	ENSP00000358072	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000369076	Transcript	.	.	ENSG00000057663	589	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.006)	.	tolerated(0.66)	.	ATG5_HUMAN	ATG5	HGNC	A9UGY9_HUMAN	.	UPI0000125C62	SNV	ATG5,missense_variant,p.Leu90Phe,ENST00000343245,;ATG5,missense_variant,p.Leu12Phe,ENST00000369070,;ATG5,missense_variant,p.Leu90Phe,ENST00000369076,;ATG5,intron_variant,,ENST00000360666,;	592	273	331	SUCCESS
ATG5	9474	.	GRCh37	6	106740951	106740951	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	310	19	272	0	ENST00000343245.3:c.267T>A	p.Leu89=	p.L89=	ENST00000343245	NM_001286106.1	89	ctT/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS5055.1	267	MUTECT|MUSE	.	GCAAGAAGATC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13040:SF2,hmmpanther:PTHR13040,Pfam_domain:PF04106	.	.	ENSP00000358072	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000369076	Transcript	.	.	ENSG00000057663	589	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATG5_HUMAN	ATG5	HGNC	A9UGY9_HUMAN	.	UPI0000125C62	SNV	ATG5,synonymous_variant,p.%3D,ENST00000343245,;ATG5,synonymous_variant,p.%3D,ENST00000369070,;ATG5,synonymous_variant,p.%3D,ENST00000369076,;ATG5,intron_variant,,ENST00000360666,;	591	272	330	SUCCESS
FNDC1	84624	.	GRCh37	6	159653741	159653741	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	12	92	0	ENST00000297267.9:c.2197C>T	p.Gln733Ter	p.Q733*	ENST00000297267	NM_032532.2	733	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS47512.1	2197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCAGCCA	NONE	.	.	hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	.	.	ENSP00000297267	.	11/23	.	.	.	.	.	.	.	.	.	11/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,stop_gained,p.Gln670Ter,ENST00000340366,;FNDC1,stop_gained,p.Gln733Ter,ENST00000297267,;FNDC1,stop_gained,p.Gln629Ter,ENST00000329629,;	2397	92	78	SUCCESS
TBC1D22B	55633	.	GRCh37	6	37250093	37250093	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750605755	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	38	97	0	ENST00000373491.3:c.554G>T	p.Arg185Leu	p.R185L	ENST00000373491	NM_017772.2	185	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS4832.1	554	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGCCTAG	NONE	.	.	hmmpanther:PTHR22957:SF239,hmmpanther:PTHR22957	.	.	ENSP00000362590	.	4/13	.	.	.	.	.	.	.	.	rs750605755,COSM1187023	4/13	PASS	ENST00000373491	Transcript	.	.	ENSG00000065491	21602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.786)	.	deleterious(0)	0,1	TB22B_HUMAN	TBC1D22B	HGNC	Q6P4C3_HUMAN,A8KA28_HUMAN	.	UPI00001C121F	SNV	TBC1D22B,missense_variant,p.Arg185Leu,ENST00000373491,;	700	97	124	SUCCESS
GUCA1B	2979	.	GRCh37	6	42162593	42162593	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	rs561790374	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	32	0	ENST00000230361.3:c.-35C>G		p.*12*	ENST00000230361	NM_002098.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4865.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCTGTATCT	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000230361	.	1/4	.	.	.	.	.	.	.	.	rs561790374	1/4	PASS	ENST00000230361	Transcript	.	.	ENSG00000112599	4679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC1B_HUMAN	GUCA1B	HGNC	.	.	UPI000013C92C	SNV	GUCA1B,5_prime_UTR_variant,,ENST00000230361,;	62	32	33	SUCCESS
EPHA7	2045	.	GRCh37	6	93969086	93969086	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs774868013	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	71	198	0	ENST00000369303.4:c.1910G>C	p.Arg637Pro	p.R637P	ENST00000369303	NM_004440.3	637	cGt/cCt	0	.	.	.	.	.	G	R/P	protein_coding	YES	CCDS5031.1	1910	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACACGCTCA	NONE	byFrequency	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	.	.	ENSP00000358309	.	10/17	.	.	.	.	.	.	.	.	rs774868013	10/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,missense_variant,p.Arg637Pro,ENST00000369303,;	2095	198	180	SUCCESS
FUT9	10690	.	GRCh37	6	96651187	96651187	+	synonymous_variant	Silent	SNP	C	C	T	rs534420311	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	7	98	0	ENST00000302103.5:c.156C>T	p.Asn52=	p.N52=	ENST00000302103	NM_006581.3	52	aaC/aaT	0	.	T:0	.	T:0	.	T	N	protein_coding	YES	CCDS5033.1	156	MUTECT|MUSE	.	AAAAACTTCTT	NONE	by1000G	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756	T:0.001	.	ENSP00000302599	T:0	3/3	.	.	.	.	.	.	.	.	rs534420311,COSM1131779	3/3	PASS	ENST00000302103	Transcript	.	T:0.0002	ENSG00000172461	4020	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	T:0	.	0,1	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,synonymous_variant,p.%3D,ENST00000302103,;	482	98	119	SUCCESS
FUT9	10690	.	GRCh37	6	96652040	96652040	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	10	116	0	ENST00000302103.5:c.1009G>C	p.Ala337Pro	p.A337P	ENST00000302103	NM_006581.3	337	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS5033.1	1009	MUTECT|MUSE|VARSCANS	.	GTTTGGCTTGC	NONE	.	.	hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.995)	.	deleterious(0.02)	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,missense_variant,p.Ala337Pro,ENST00000302103,;	1335	116	107	SUCCESS
GIGYF1	64599	.	GRCh37	7	100281944	100281944	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs771187029	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	44	0	ENST00000275732.5:c.1646A>G	p.Glu549Gly	p.E549G	ENST00000275732	NM_022574.4	549	gAg/gGg	0	.	.	.	.	.	C	E/G	protein_coding	YES	CCDS34708.1	1646	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCTCCTGG	NONE	.	.	hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37	.	.	ENSP00000275732	.	14/24	.	.	.	.	.	.	.	.	rs771187029	14/24	PASS	ENST00000275732	Transcript	.	.	ENSG00000146830	9126	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious(0.04)	.	PERQ1_HUMAN	GIGYF1	HGNC	.	.	UPI00001BD8AD	SNV	GIGYF1,missense_variant,p.Glu549Gly,ENST00000275732,;GIGYF1,downstream_gene_variant,,ENST00000471340,;GIGYF1,non_coding_transcript_exon_variant,,ENST00000472105,;GIGYF1,downstream_gene_variant,,ENST00000464111,;	2856	44	50	SUCCESS
NEUROD6	63974	.	GRCh37	7	31378068	31378068	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	27	85	0	ENST00000297142.3:c.815C>T	p.Ser272Phe	p.S272F	ENST00000297142	NM_022728.3	272	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS5434.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGAAAAT	NONE	.	.	hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,Pfam_domain:PF12533,PIRSF_domain:PIRSF015618	.	.	ENSP00000297142	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297142	Transcript	.	.	ENSG00000164600	13804	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.951)	.	deleterious(0)	.	NDF6_HUMAN	NEUROD6	HGNC	.	.	UPI000000D77D	SNV	NEUROD6,missense_variant,p.Ser272Phe,ENST00000297142,;	1138	85	74	SUCCESS
WBSCR16	0	.	GRCh37	7	74470082	74470082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	328	67	482	0	ENST00000329959.4:c.1157G>T	p.Gly386Val	p.G386V	ENST00000329959	NM_030798.4	386	gGc/gTc	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS5577.1	1157	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAGCCAAAG	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF11,Gene3D:2.130.10.30,Superfamily_domains:SSF50985	.	.	ENSP00000333799	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000329959	Transcript	.	.	ENSG00000174374	14948	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.927)	.	deleterious(0)	.	WBS16_HUMAN	WBSCR16	HGNC	B2RXG5_HUMAN	.	UPI00000015C1	SNV	WBSCR16,missense_variant,p.Gly386Val,ENST00000503250,;WBSCR16,missense_variant,p.Gly386Val,ENST00000329959,;WBSCR16,downstream_gene_variant,,ENST00000543840,;WBSCR16,non_coding_transcript_exon_variant,,ENST00000467007,;WBSCR16,non_coding_transcript_exon_variant,,ENST00000478352,;	1213	483	395	SUCCESS
KCNU1	157855	.	GRCh37	8	36664901	36664901	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	96	0	ENST00000399881.3:c.589T>C	p.Phe197Leu	p.F197L	ENST00000399881	NM_001031836.2	197	Ttc/Ctc	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS55220.1	589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGTTCCTA	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	.	.	ENSP00000382770	.	6/27	.	.	.	.	.	.	.	.	.	6/27	PASS	ENST00000399881	Transcript	.	.	ENSG00000215262	18867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	KCNU1_HUMAN	KCNU1	HGNC	.	.	UPI0000F079EF	SNV	KCNU1,missense_variant,p.Phe197Leu,ENST00000523973,;KCNU1,missense_variant,p.Phe197Leu,ENST00000399881,;KCNU1,missense_variant,p.Phe197Leu,ENST00000522372,;KCNU1,3_prime_UTR_variant,,ENST00000522417,;	626	96	66	SUCCESS
TMEM245	23731	.	GRCh37	9	111881763	111881763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	44	1	ENST00000374586.3:c.431G>A	p.Arg144His	p.R144H	ENST00000374586	NM_032012.3	144	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS43858.1	431	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCGCAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR21716,hmmpanther:PTHR21716:SF1	.	.	ENSP00000363714	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000374586	Transcript	.	.	ENSG00000106771	1363	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.157)	.	deleterious(0.01)	.	TM245_HUMAN	TMEM245	HGNC	.	.	UPI000013C833	SNV	TMEM245,missense_variant,p.Arg144His,ENST00000374586,;	463	45	34	SUCCESS
APBA1	320	.	GRCh37	9	72131800	72131800	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	25	0	ENST00000265381.4:c.327G>C	p.Ala109=	p.A109=	ENST00000265381	NM_001163.3	109	gcG/gcC	0	.	.	.	.	.	G	A	protein_coding	YES	CCDS6630.1	327	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCGCGCG	NONE	.	.	hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	.	.	ENSP00000265381	.	2/13	.	.	.	.	.	.	.	.	.	2/13	PASS	ENST00000265381	Transcript	.	.	ENSG00000107282	578	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APBA1_HUMAN	APBA1	HGNC	.	.	UPI000013D611	SNV	APBA1,synonymous_variant,p.%3D,ENST00000265381,;	550	25	20	SUCCESS
CTSL3P	392360	.	GRCh37	9	90388043	90388043	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	16	77	0	ENST00000412179.1:n.270T>C		p.*90*	ENST00000412179				0	.	.	.	.	.	C	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAATGGCTT	NONE	.	.	.	.	.	.	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000412179	Transcript	.	.	ENSG00000188029	33132	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTSL3P	HGNC	.	.	.	SNV	CTSL3P,non_coding_transcript_exon_variant,,ENST00000354530,;CTSL3P,non_coding_transcript_exon_variant,,ENST00000412179,;	270	77	73	SUCCESS
PLXNB3	5365	.	GRCh37	X	153042690	153042690	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1569542197	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	8	46	0	ENST00000361971.5:c.4955A>G	p.Glu1652Gly	p.E1652G	ENST00000361971	NM_005393.2	1652	gAg/gGg	0	.	.	.	.	.	G	E/G	protein_coding	YES	CCDS55536.1	5024	MUTECT|MUSE	.	CGAGGAGGGGG	NONE	byFrequency	.	hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,Pfam_domain:PF08337	.	.	ENSP00000442736	.	31/37	.	.	.	.	.	.	.	.	rs781928129	31/37	PASS	ENST00000538966	Transcript	.	.	ENSG00000198753	9105	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.462)	.	deleterious(0.01)	.	PLXB3_HUMAN	PLXNB3	HGNC	.	.	UPI0001AFF680	SNV	PLXNB3,missense_variant,p.Glu1675Gly,ENST00000538966,;PLXNB3,missense_variant,p.Glu1305Gly,ENST00000538776,;PLXNB3,missense_variant,p.Glu1652Gly,ENST00000361971,;SRPK3,5_prime_UTR_variant,,ENST00000489426,;PLXNB3,downstream_gene_variant,,ENST00000411613,;SRPK3,upstream_gene_variant,,ENST00000370108,;SRPK3,upstream_gene_variant,,ENST00000370100,;PLXNB3,downstream_gene_variant,,ENST00000455214,;PLXNB3,upstream_gene_variant,,ENST00000448847,;SRPK3,upstream_gene_variant,,ENST00000430541,;SRPK3,upstream_gene_variant,,ENST00000393786,;PLXNB3,downstream_gene_variant,,ENST00000538282,;SRPK3,upstream_gene_variant,,ENST00000370104,;SRPK3,upstream_gene_variant,,ENST00000370101,;PLXNB3,upstream_gene_variant,,ENST00000472415,;PLXNB3,upstream_gene_variant,,ENST00000485980,;PLXNB3,upstream_gene_variant,,ENST00000469190,;PLXNB3,downstream_gene_variant,,ENST00000482654,;	5295	46	54	SUCCESS
SPRY3	10251	.	GRCh37	X	155004358	155004358	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	34	125	0	ENST00000302805.2:c.825T>G	p.Ser275=	p.S275=	ENST00000302805	NM_005840.1	275	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS14769.4	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGGTAG	NONE	.	.	hmmpanther:PTHR12365:SF9,hmmpanther:PTHR12365	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,synonymous_variant,p.%3D,ENST00000302805,;	1256	125	153	SUCCESS
CXorf22	0	.	GRCh37	X	35969436	35969436	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	100	226	0	ENST00000297866.5:c.845G>C	p.Trp282Ser	p.W282S	ENST00000297866	NM_152632.3	282	tGg/tCg	0	.	.	.	.	.	C	W/S	protein_coding	YES	CCDS14237.2	845	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGGGTGG	NONE	.	.	hmmpanther:PTHR23053	.	.	ENSP00000297866	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000297866	Transcript	.	.	ENSG00000165164	28546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CX022_HUMAN	CXorf22	HGNC	.	.	UPI000022DD27	SNV	CXorf22,missense_variant,p.Trp282Ser,ENST00000297866,;CXorf22,missense_variant,p.Trp282Ser,ENST00000493930,;	911	226	182	SUCCESS
PSD	5662	.	GRCh37	10	104174854	104174854	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs761587777	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	53	0	ENST00000020673.5:c.890G>A	p.Arg297His	p.R297H	ENST00000020673	NM_001270966.1	297	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS31272.1	890	MUTECT|MUSE	.	TCTCGCGGTAG	NONE	.	.	hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115	.	.	ENSP00000020673	.	4/17	.	.	.	.	.	.	.	.	rs761587777	4/17	PASS	ENST00000020673	Transcript	.	.	ENSG00000059915	9507	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.019)	.	tolerated(0.11)	.	PSD1_HUMAN	PSD	HGNC	.	.	UPI0000404928	SNV	PSD,missense_variant,p.Arg297His,ENST00000020673,;PSD,missense_variant,p.Arg297His,ENST00000406432,;FBXL15,upstream_gene_variant,,ENST00000457067,;FBXL15,upstream_gene_variant,,ENST00000224862,;FBXL15,upstream_gene_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000369956,;PSD,upstream_gene_variant,,ENST00000488194,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,downstream_gene_variant,,ENST00000492902,;FBXL15,upstream_gene_variant,,ENST00000481808,;	1417	53	31	SUCCESS
CCDC147	0	.	GRCh37	10	106153114	106153120	+	frameshift_variant	Frame_Shift_Del	DEL	TTAAAGA	TTAAAGA	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	TTAAAGA	TTAAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	146	32	193	0	ENST00000369704.3:c.1558_1564del	p.Lys520Ter	p.K520*	ENST00000369704	NM_001008723.1	519	TTAAAGAtt/tt	0	.	.	.	.	.	-	LKI/X	protein_coding	YES	CCDS31282.1	1555-1561	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAAGTTAAAGATTATG	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF26	.	.	ENSP00000358718	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000369704	Transcript	.	.	ENSG00000120051	26676	3	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC147_HUMAN	CCDC147	HGNC	B4DK97_HUMAN	.	UPI0000160405	deletion	CCDC147,frameshift_variant,p.Lys520Ter,ENST00000369704,;	1689-1695	193	178	SUCCESS
PDCD4	27250	.	GRCh37	10	112641197	112641197	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs375978756	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	138	1	ENST00000280154.7:c.250G>T	p.Ala84Ser	p.A84S	ENST00000280154	NM_014456.4	84	Gcc/Tcc	0	A:0	.	.	.	.	T	A/S	protein_coding	YES	CCDS7567.1	250	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACGCCCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12626:SF3,hmmpanther:PTHR12626	.	A:0.0001	ENSP00000280154	.	3/12	.	.	.	.	.	.	.	.	rs375978756	3/12	PASS	ENST00000280154	Transcript	.	.	ENSG00000150593	8763	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.6)	.	PDCD4_HUMAN	PDCD4	HGNC	.	.	UPI000013FD3F	SNV	PDCD4,missense_variant,p.Ala70Ser,ENST00000444997,;PDCD4,missense_variant,p.Ala84Ser,ENST00000280154,;PDCD4,missense_variant,p.Ala73Ser,ENST00000393104,;PDCD4,non_coding_transcript_exon_variant,,ENST00000483670,;PDCD4,non_coding_transcript_exon_variant,,ENST00000467574,;PDCD4,non_coding_transcript_exon_variant,,ENST00000492932,;PDCD4,upstream_gene_variant,,ENST00000481353,;PDCD4,upstream_gene_variant,,ENST00000462577,;	524	140	104	SUCCESS
FAM175B	0	.	GRCh37	10	126523308	126523319	+	inframe_deletion	In_Frame_Del	DEL	CTTCCAATTATG	CTTCCAATTATG	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	CTTCCAATTATG	CTTCCAATTATG	.	.	.	.	.	.	.	.	.	.	.	.	.	92	36	109	0	ENST00000298492.5:c.1022_1033del	p.Asn341_Ser344del	p.N341_S344del	ENST00000298492	NM_032182.3	339	tCTTCCAATTATGct/tct	0	.	.	.	.	.	-	SSNYA/S	protein_coding	YES	CCDS31308.2	1016-1027	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCTCTTCCAATTATGCTTCC	NONE	.	.	hmmpanther:PTHR31728:SF3,hmmpanther:PTHR31728	.	.	ENSP00000298492	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000298492	Transcript	.	.	ENSG00000165660	28975	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F175B_HUMAN	FAM175B	HGNC	.	.	UPI0000403FD8	deletion	FAM175B,inframe_deletion,p.Asn341_Ser344del,ENST00000298492,;	1061-1072	109	128	SUCCESS
JAKMIP3	282973	.	GRCh37	10	133963002	133963002	+	synonymous_variant	Silent	SNP	C	C	T	rs199817578	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	26	0	ENST00000298622.4:c.1935C>T	p.Ala645=	p.A645=	ENST00000298622	NM_001105521.2	645	gcC/gcT	0	T:0	G:0	.	G:0	.	T	A	protein_coding	YES	CCDS44494.1	1935	MUTECT|MUSE	.	GAGGCCGAAGG	NONE	byCluster|by1000G	.	hmmpanther:PTHR18935:SF5,hmmpanther:PTHR18935	G:0	T:0.0001	ENSP00000298622	G:0.001	14/24	.	.	.	.	.	.	.	.	rs199817578	14/24	PASS	ENST00000298622	Transcript	.	G:0.0002	ENSG00000188385	23523	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	JKIP3_HUMAN	JAKMIP3	HGNC	.	.	UPI000157482F	SNV	JAKMIP3,synonymous_variant,p.%3D,ENST00000298622,;JAKMIP3,non_coding_transcript_exon_variant,,ENST00000477275,;	2073	26	24	SUCCESS
DDX50	79009	.	GRCh37	10	70706321	70706321	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	18	89	0	ENST00000373585.3:c.2149G>T	p.Gly717Cys	p.G717C	ENST00000373585	NM_024045.1	717	Ggt/Tgt	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS7283.1	2149	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGGTAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031	.	.	ENSP00000362687	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000373585	Transcript	.	.	ENSG00000107625	17906	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0.01)	.	DDX50_HUMAN	DDX50	HGNC	Q9NTA9_HUMAN,B4DED6_HUMAN	.	UPI000006FBBF	SNV	DDX50,missense_variant,p.Gly717Cys,ENST00000373585,;DDX50,downstream_gene_variant,,ENST00000466265,;	2256	89	71	SUCCESS
MRPS16	51021	.	GRCh37	10	75010634	75010634	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	32	0	ENST00000372945.3:c.390A>G	p.Thr130=	p.T130=	ENST00000372945	NM_016065.3	130	acA/acG	0	.	.	.	.	.	C	T	protein_coding	YES	CCDS7323.1	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATCTGTAGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12919:SF19,hmmpanther:PTHR12919	.	.	ENSP00000362036	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372945	Transcript	1	.	ENSG00000182180	14048	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT16_HUMAN	MRPS16	HGNC	.	.	UPI0000046808	SNV	MRPS16,synonymous_variant,p.%3D,ENST00000372945,;MRPS16,intron_variant,,ENST00000372940,;MRPS16,intron_variant,,ENST00000416782,;TTC18,downstream_gene_variant,,ENST00000355577,;TTC18,downstream_gene_variant,,ENST00000433268,;TTC18,downstream_gene_variant,,ENST00000310715,;DNAJC9,upstream_gene_variant,,ENST00000372950,;TTC18,downstream_gene_variant,,ENST00000394865,;TTC18,downstream_gene_variant,,ENST00000401621,;TTC18,downstream_gene_variant,,ENST00000340329,;DNAJC9-AS1,intron_variant,,ENST00000440197,;RP11-152N13.5,upstream_gene_variant,,ENST00000457147,;RP11-152N13.5,upstream_gene_variant,,ENST00000394864,;DNAJC9-AS1,downstream_gene_variant,,ENST00000513954,;RP11-152N13.5,upstream_gene_variant,,ENST00000457758,;MRPS16,non_coding_transcript_exon_variant,,ENST00000473427,;MRPS16,non_coding_transcript_exon_variant,,ENST00000471251,;MRPS16,non_coding_transcript_exon_variant,,ENST00000479005,;DNAJC9,upstream_gene_variant,,ENST00000512551,;DNAJC9,upstream_gene_variant,,ENST00000469143,;TTC18,downstream_gene_variant,,ENST00000462684,;TTC18,downstream_gene_variant,,ENST00000493787,;TTC18,downstream_gene_variant,,ENST00000495161,;	601	32	28	SUCCESS
LARP4B	23185	.	GRCh37	10	860959	860959	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	42	0	ENST00000316157.3:c.1747G>A	p.Glu583Lys	p.E583K	ENST00000316157	NM_015155.2	583	Gag/Aag	0	.	.	.	.	.	T	E/K	protein_coding	YES	CCDS31131.1	1747	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTCTCTGG	NONE	.	.	hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43	.	.	ENSP00000326128	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000316157	Transcript	.	.	ENSG00000107929	28987	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.589)	.	deleterious(0.02)	.	LAR4B_HUMAN	LARP4B	HGNC	B5MCU2_HUMAN	.	UPI00001F8C87	SNV	LARP4B,missense_variant,p.Glu59Lys,ENST00000440895,;LARP4B,missense_variant,p.Glu583Lys,ENST00000316157,;LARP4B,missense_variant,p.Glu149Lys,ENST00000448368,;LARP4B,non_coding_transcript_exon_variant,,ENST00000469487,;LARP4B,non_coding_transcript_exon_variant,,ENST00000608970,;LARP4B,non_coding_transcript_exon_variant,,ENST00000609318,;	1788	42	51	SUCCESS
MMP12	4321	.	GRCh37	11	102745584	102745585	+	non_coding_transcript_exon_variant	RNA	INS	-	-	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	74	23	62	0	ENST00000532855.1:n.180dup		p.*60*	ENST00000532855				0	.	.	.	.	.	T	.	processed_transcript	YES	.	.	INDELOCATOR|VARSCANI	.	ACATTATTTTT	NONE	.	.	.	.	.	.	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000532855	Transcript	.	.	ENSG00000110347	7158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MMP12	HGNC	.	.	.	insertion	MMP12,non_coding_transcript_exon_variant,,ENST00000532855,;MMP12,non_coding_transcript_exon_variant,,ENST00000326227,;	180-181	62	97	SUCCESS
IFITM3	10410	.	GRCh37	11	320637	320637	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	18	52	0	ENST00000399808.4:c.177del	p.Trp60GlyfsTer9	p.W60Gfs*9	ENST00000399808	NM_021034.2	59	gtC/gt	0	.	.	.	.	.	-	V/X	protein_coding	YES	CCDS41585.1	177	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACCAGACGAC	NONE	.	.	Pfam_domain:PF04505,hmmpanther:PTHR13999:SF8,hmmpanther:PTHR13999,Transmembrane_helices:TMhelix	.	.	ENSP00000382707	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000399808	Transcript	.	.	ENSG00000142089	5414	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFM3_HUMAN	IFITM3	HGNC	E9PS44_HUMAN	.	UPI00000465C0	deletion	IFITM3,frameshift_variant,p.Trp39GlyfsTer9,ENST00000526811,;IFITM3,frameshift_variant,p.Trp39GlyfsTer9,ENST00000602735,;IFITM3,frameshift_variant,p.Trp60GlyfsTer9,ENST00000399808,;RP11-326C3.14,downstream_gene_variant,,ENST00000602809,;RP11-326C3.11,intron_variant,,ENST00000602756,;RP11-326C3.11,intron_variant,,ENST00000602429,;RP11-326C3.10,upstream_gene_variant,,ENST00000534271,;RP11-326C3.11,downstream_gene_variant,,ENST00000508004,;IFITM3,frameshift_variant,p.Trp17GlyfsTer9,ENST00000531688,;	414	52	91	SUCCESS
KIAA1549L	25758	.	GRCh37	11	33682552	33682552	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	51	0	ENST00000321505.4:c.5260G>A	p.Ala1754Thr	p.A1754T	ENST00000321505		1754	Gca/Aca	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS44565.2	5260	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGGCAGAT	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	.	.	ENSP00000315295	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000321505	Transcript	.	.	ENSG00000110427	24836	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.972)	.	deleterious(0.03)	.	K154L_HUMAN	KIAA1549L	HGNC	.	.	UPI0000E59322	SNV	KIAA1549L,missense_variant,p.Ala1754Thr,ENST00000321505,;KIAA1549L,missense_variant,p.Ala1760Thr,ENST00000389726,;RP4-541C22.5,downstream_gene_variant,,ENST00000534431,;	5440	51	76	SUCCESS
KCNJ8	3764	.	GRCh37	12	21918723	21918740	+	inframe_deletion	In_Frame_Del	DEL	AGAATTGTTCCTTCGGAT	AGAATTGTTCCTTCGGAT	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	AGAATTGTTCCTTCGGAT	AGAATTGTTCCTTCGGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	90	20	98	0	ENST00000240662.2:c.1192_1209del	p.Ile398_Ser403del	p.I398_S403del	ENST00000240662	NM_004982.3	398	ATCCGAAGGAACAATTCT/-	0	.	.	.	.	.	-	IRRNNS/-	protein_coding	YES	CCDS8692.1	1192-1209	INDELOCATOR|VARSCANI	.	GAGGGAAGAATTGTTCCTTCGGATAGAAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF11,PIRSF_domain:PIRSF005465,Prints_domain:PR01331	.	.	ENSP00000240662	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000240662	Transcript	.	.	ENSG00000121361	6269	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRK8_HUMAN	KCNJ8	HGNC	F5GY12_HUMAN	.	UPI000012D8A3	deletion	KCNJ8,inframe_deletion,p.Ile398_Ser403del,ENST00000240662,;RP11-59N23.1,intron_variant,,ENST00000542489,;	1538-1555	98	110	SUCCESS
KRT6A	3853	.	GRCh37	12	52885513	52885513	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	21	82	0	ENST00000330722.6:c.548T>C	p.Phe183Ser	p.F183S	ENST00000330722	NM_005554.3	183	tTc/tCc	0	.	.	.	.	.	G	F/S	protein_coding	YES	CCDS41786.1	548	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGAACCGC	NONE	.	.	Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000369317	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000330722	Transcript	.	.	ENSG00000205420	6443	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0)	.	K2C6A_HUMAN	KRT6A	HGNC	.	.	UPI000013CD4C	SNV	KRT6A,missense_variant,p.Phe183Ser,ENST00000330722,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,upstream_gene_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;KRT6A,upstream_gene_variant,,ENST00000549754,;	617	82	117	SUCCESS
OR6C65	403282	.	GRCh37	12	55794617	55794617	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs753488968	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	72	0	ENST00000379665.2:c.305T>C	p.Leu102Ser	p.L102S	ENST00000379665	NM_001005518.1	102	tTa/tCa	0	.	.	.	.	.	C	L/S	protein_coding	YES	CCDS31821.1	305	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTAATTC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF15,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000368986	.	1/1	.	.	.	.	.	.	.	.	rs753488968	1/1	PASS	ENST00000379665	Transcript	.	.	ENSG00000205328	31295	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.07)	.	O6C65_HUMAN	OR6C65	HGNC	.	.	UPI000044D410	SNV	OR6C65,missense_variant,p.Leu102Ser,ENST00000379665,;OR6C73P,downstream_gene_variant,,ENST00000546432,;	404	72	84	SUCCESS
VWF	7450	.	GRCh37	12	6230347	6230347	+	synonymous_variant	Silent	SNP	C	C	T	rs1353200453	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	34	70	0	ENST00000261405.5:c.213G>A	p.Ser71=	p.S71=	ENST00000261405	NM_000552.3	71	tcG/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS8539.1	213	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATCGAGAA	NONE	.	.	PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Pfam_domain:PF00094,PIRSF_domain:PIRSF002495,SMART_domains:SM00216	.	.	ENSP00000261405	.	3/52	.	.	.	.	.	.	.	.	.	3/52	PASS	ENST00000261405	Transcript	.	.	ENSG00000110799	12726	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWF_HUMAN	VWF	HGNC	H2DLA2_HUMAN	.	UPI00001AE7EE	SNV	VWF,synonymous_variant,p.%3D,ENST00000572068,;VWF,synonymous_variant,p.%3D,ENST00000261405,;VWF,non_coding_transcript_exon_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000540192,;VWF,downstream_gene_variant,,ENST00000545906,;VWF,3_prime_UTR_variant,,ENST00000321023,;VWF,3_prime_UTR_variant,,ENST00000538563,;	468	70	90	SUCCESS
METAP2	10988	.	GRCh37	12	95867968	95867968	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	73	161	0	ENST00000323666.5:c.13G>A	p.Glu5Lys	p.E5K	ENST00000323666	NM_006838.3	5	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS9052.1	13	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGGAGGAG	BUFFER|p.G3G|c.9T>G|3	.	.	.	.	.	ENSP00000325312	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000323666	Transcript	.	.	ENSG00000111142	16672	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	deleterious_low_confidence(0.03)	.	MAP2_HUMAN	METAP2	HGNC	.	.	UPI000004493E	SNV	METAP2,missense_variant,p.Glu5Lys,ENST00000261220,;METAP2,missense_variant,p.Glu5Lys,ENST00000323666,;METAP2,missense_variant,p.Glu5Lys,ENST00000551840,;METAP2,missense_variant,p.Glu5Lys,ENST00000550777,;METAP2,missense_variant,p.Glu5Lys,ENST00000553151,;METAP2,missense_variant,p.Glu5Lys,ENST00000549502,;METAP2,missense_variant,p.Glu5Lys,ENST00000546753,;METAP2,missense_variant,p.Glu5Lys,ENST00000535095,;METAP2,upstream_gene_variant,,ENST00000549136,;	242	161	178	SUCCESS
GRK1	6011	.	GRCh37	13	114322307	114322307	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	57	147	0	ENST00000335678.6:c.606G>A	p.Gly202=	p.G202=	ENST00000335678	NM_002929.2	202	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	.	606	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCGGGGAGGT	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF11,hmmpanther:PTHR24355,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000334876	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000335678	Transcript	.	.	ENSG00000185974	10013	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RK_HUMAN	GRK1	HGNC	Q71VB6_HUMAN	.	UPI0000133B08	SNV	GRK1,synonymous_variant,p.%3D,ENST00000335678,;	838	147	208	SUCCESS
EVL	51466	.	GRCh37	14	100604259	100604259	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	23	0	ENST00000402714.2:c.1088+120G>A		p.*363*	ENST00000402714				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9955.1	.	MUTECT|MUSE	.	TCTGCGAAGGT	NONE	.	.	.	.	.	ENSP00000376652	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392920	Transcript	.	.	ENSG00000196405	20234	.	.	MODIFIER	11/13	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EVL_HUMAN	EVL	HGNC	Q499Z9_HUMAN,G3V5F7_HUMAN,G3V314_HUMAN,G3V2K5_HUMAN	.	UPI000002A92F	SNV	EVL,3_prime_UTR_variant,,ENST00000544450,;EVL,intron_variant,,ENST00000392920,;EVL,intron_variant,,ENST00000554695,;EVL,intron_variant,,ENST00000402714,;EVL,downstream_gene_variant,,ENST00000557384,;EVL,upstream_gene_variant,,ENST00000555606,;EVL,upstream_gene_variant,,ENST00000555999,;EVL,downstream_gene_variant,,ENST00000553799,;EVL,non_coding_transcript_exon_variant,,ENST00000554518,;EVL,intron_variant,,ENST00000554031,;EVL,intron_variant,,ENST00000554045,;EVL,intron_variant,,ENST00000553694,;EVL,upstream_gene_variant,,ENST00000556258,;EVL,upstream_gene_variant,,ENST00000555848,;	.	23	34	SUCCESS
AHNAK2	113146	.	GRCh37	14	105413228	105413228	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	27	123	0	ENST00000333244.5:c.8560G>C	p.Gly2854Arg	p.G2854R	ENST00000333244	NM_138420.2	2854	Ggg/Cgg	0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS45177.1	8560	RADIA|MUTECT|MUSE|VARSCANS	.	ATCCCCTTGCA	NONE	.	.	hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348	.	.	ENSP00000353114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333244	Transcript	.	.	ENSG00000185567	20125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.79)	.	.	.	AHNK2_HUMAN	AHNAK2	HGNC	.	.	UPI00015BB2CA	SNV	AHNAK2,missense_variant,p.Gly2854Arg,ENST00000333244,;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	8680	123	155	SUCCESS
FAM179B	0	.	GRCh37	14	45475303	45475303	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	25	111	0	ENST00000361577.3:c.2737G>T	p.Val913Phe	p.V913F	ENST00000361577	NM_015091.2	913	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS9681.1	2737	RADIA|MUTECT|MUSE	.	AGCCTGTTCCT	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.044)	.	deleterious(0.01)	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,missense_variant,p.Val105Phe,ENST00000557250,;FAM179B,missense_variant,p.Val913Phe,ENST00000361577,;FAM179B,missense_variant,p.Val913Phe,ENST00000382233,;FAM179B,missense_variant,p.Val913Phe,ENST00000361462,;KLHL28,intron_variant,,ENST00000556239,;FAM179B,downstream_gene_variant,,ENST00000555874,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,missense_variant,p.Val913Phe,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;	2951	111	137	SUCCESS
FAM179B	0	.	GRCh37	14	45475307	45475307	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1158422904	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	25	113	0	ENST00000361577.3:c.2741C>T	p.Pro914Leu	p.P914L	ENST00000361577	NM_015091.2	914	cCt/cTt	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS9681.1	2741	RADIA|MUTECT|MUSE	.	TGTTCCTCCCA	NONE	.	.	hmmpanther:PTHR21567:SF6,hmmpanther:PTHR21567	.	.	ENSP00000355045	.	5/19	.	.	.	.	.	.	.	.	.	5/19	PASS	ENST00000361577	Transcript	.	.	ENSG00000198718	19959	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.996)	.	deleterious(0.03)	.	F179B_HUMAN	FAM179B	HGNC	.	.	UPI00001C1F79	SNV	FAM179B,missense_variant,p.Pro106Leu,ENST00000557250,;FAM179B,missense_variant,p.Pro914Leu,ENST00000361577,;FAM179B,missense_variant,p.Pro914Leu,ENST00000382233,;FAM179B,missense_variant,p.Pro914Leu,ENST00000361462,;KLHL28,intron_variant,,ENST00000556239,;FAM179B,downstream_gene_variant,,ENST00000555874,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,missense_variant,p.Pro914Leu,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;	2955	113	139	SUCCESS
DCAF4	26094	.	GRCh37	14	73407010	73407010	+	synonymous_variant	Silent	SNP	G	G	T	rs768918283	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	60	86	1	ENST00000358377.2:c.276G>T	p.Thr92=	p.T92=	ENST00000358377	NM_001163509.1	92	acG/acT	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS9809.1	276	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACGAAAGA	NONE	byFrequency	.	hmmpanther:PTHR22847:SF368,hmmpanther:PTHR22847	.	.	ENSP00000351147	.	4/14	.	.	.	.	.	.	.	.	rs768918283	4/14	PASS	ENST00000358377	Transcript	.	.	ENSG00000119599	20229	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCAF4_HUMAN	DCAF4	HGNC	.	.	UPI000000CBDC	SNV	DCAF4,synonymous_variant,p.%3D,ENST00000555042,;DCAF4,synonymous_variant,p.%3D,ENST00000509153,;DCAF4,synonymous_variant,p.%3D,ENST00000353777,;DCAF4,synonymous_variant,p.%3D,ENST00000358377,;DCAF4,5_prime_UTR_variant,,ENST00000553457,;DCAF4,5_prime_UTR_variant,,ENST00000394234,;DCAF4,non_coding_transcript_exon_variant,,ENST00000508412,;DCAF4,non_coding_transcript_exon_variant,,ENST00000514486,;DCAF4,upstream_gene_variant,,ENST00000513337,;DCAF4,downstream_gene_variant,,ENST00000510612,;DCAF4,3_prime_UTR_variant,,ENST00000509320,;DCAF4,non_coding_transcript_exon_variant,,ENST00000505361,;DCAF4,non_coding_transcript_exon_variant,,ENST00000514191,;DCAF4,upstream_gene_variant,,ENST00000557203,;	496	87	133	SUCCESS
PNMA1	9240	.	GRCh37	14	74180325	74180325	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	34	70	0	ENST00000316836.3:c.18G>A	p.Leu6=	p.L6=	ENST00000316836	NM_006029.4	6	ttG/ttA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS9818.1	18	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCCAACAG	NONE	.	.	hmmpanther:PTHR23095:SF17,hmmpanther:PTHR23095,Pfam_domain:PF14893	.	.	ENSP00000318914	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316836	Transcript	.	.	ENSG00000176903	9158	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNMA1_HUMAN	PNMA1	HGNC	.	.	UPI000003779C	SNV	PNMA1,synonymous_variant,p.%3D,ENST00000316836,;ELMSAN1,downstream_gene_variant,,ENST00000286523,;ELMSAN1,downstream_gene_variant,,ENST00000394071,;ELMSAN1,downstream_gene_variant,,ENST00000476562,;	804	70	85	SUCCESS
UNC79	57578	.	GRCh37	14	94084535	94084535	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	rs79568079	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	44	0	ENST00000393151.2:c.4225-3C>T		p.X1409_splice	ENST00000393151		1409		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9911.2	.	RADIA|MUSE|VARSCANS	.	TTGGGCAGTAT	NONE	suspect|byCluster	.	.	.	.	ENSP00000256339	.	.	.	.	.	.	.	.	.	.	rs79568079	.	PASS	ENST00000256339	Transcript	.	.	ENSG00000133958	19966	.	.	LOW	28/49	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UNC79_HUMAN	UNC79	HGNC	.	.	UPI0000D62441	SNV	UNC79,splice_region_variant,,ENST00000393151,;UNC79,splice_region_variant,,ENST00000256339,;UNC79,splice_region_variant,,ENST00000553484,;UNC79,splice_region_variant,,ENST00000555664,;	.	44	52	SUCCESS
ASB2	51676	.	GRCh37	14	94423364	94423364	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	rs572588380	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	21	42	0	ENST00000315988.4:c.-86C>A		p.*29*	ENST00000315988	NM_016150.4			0	.	A:0	.	A:0.0014	.	T	.	protein_coding	YES	CCDS55940.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCCGGGTCCT	NONE	by1000G	.	.	A:0	.	ENSP00000451575	A:0	.	.	.	.	.	.	.	.	.	rs572588380	.	PASS	ENST00000555019	Transcript	.	A:0.0002	ENSG00000100628	16012	.	.	MODIFIER	2/9	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	ASB2_HUMAN	ASB2	HGNC	G3V484_HUMAN,B3KPZ6_HUMAN	.	UPI000013D23C	SNV	ASB2,5_prime_UTR_variant,,ENST00000315988,;ASB2,intron_variant,,ENST00000557613,;ASB2,intron_variant,,ENST00000555019,;ASB2,intron_variant,,ENST00000555287,;ASB2,upstream_gene_variant,,ENST00000556062,;ASB2,upstream_gene_variant,,ENST00000555507,;ASB2,intron_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000556793,;	.	42	45	SUCCESS
WDR72	256764	.	GRCh37	15	54025359	54025359	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	40	0	ENST00000360509.5:c.-12-1G>A		p.X4_splice	ENST00000360509		4		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10151.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCCTGACA	NONE	.	.	.	.	.	ENSP00000379619	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396328	Transcript	1	.	ENSG00000166415	26790	.	.	HIGH	1/19	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR72_HUMAN	WDR72	HGNC	H0YN02_HUMAN	.	UPI00001D777D	SNV	WDR72,splice_acceptor_variant,,ENST00000560036,;WDR72,splice_acceptor_variant,,ENST00000557913,;WDR72,splice_acceptor_variant,,ENST00000396328,;WDR72,splice_acceptor_variant,,ENST00000360509,;WDR72,5_prime_UTR_variant,,ENST00000559418,;	.	40	45	SUCCESS
TLN2	83660	.	GRCh37	15	62948248	62948248	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs776986439	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	40	89	0	ENST00000306829.6:c.623C>T	p.Ser208Leu	p.S208L	ENST00000306829	NM_015059.2	208	tCg/tTg	0	.	.	.	.	.	T	S/L	protein_coding	YES	CCDS32261.1	623	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATTCGAGAG	SITE|p.S208L|c.623C>T|3	byFrequency	.	Superfamily_domains:SSF47031,SMART_domains:SM00295,Pfam_domain:PF00373,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,PROSITE_profiles:PS50057	.	.	ENSP00000453508	.	7/58	.	.	.	.	.	.	.	.	rs776986439,COSM963624	7/58	PASS	ENST00000561311	Transcript	.	.	ENSG00000171914	15447	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.692)	.	deleterious(0.03)	0,1	TLN2_HUMAN	TLN2	HGNC	.	.	UPI00001FE5FC	SNV	TLN2,missense_variant,p.Ser208Leu,ENST00000561311,;TLN2,missense_variant,p.Ser208Leu,ENST00000306829,;TLN2,non_coding_transcript_exon_variant,,ENST00000474847,;	853	89	102	SUCCESS
HERC1	8925	.	GRCh37	15	64048942	64048942	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	30	0	ENST00000443617.2:c.1227A>C	p.Glu409Asp	p.E409D	ENST00000443617	NM_003922.3	409	gaA/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS45277.1	1227	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTTCAAT	NONE	.	.	PROSITE_profiles:PS50012,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Pfam_domain:PF00415,Superfamily_domains:SSF50985	.	.	ENSP00000390158	.	5/78	.	.	.	.	.	.	.	.	.	5/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Glu409Asp,ENST00000443617,;HERC1,intron_variant,,ENST00000561400,;HERC1,non_coding_transcript_exon_variant,,ENST00000559886,;	1315	30	53	SUCCESS
MAN2A2	4122	.	GRCh37	15	91448887	91448887	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs750890155	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	100	0	ENST00000360468.3:c.469G>T	p.Asp157Tyr	p.D157Y	ENST00000360468	NM_006122.2	157	Gac/Tac	0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS32332.1	469	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTACGACCCG	NONE	byFrequency	.	Superfamily_domains:SSF88713,Gene3D:3.20.110.10,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	.	.	ENSP00000353655	.	3/22	.	.	.	.	.	.	.	.	rs750890155	3/22	PASS	ENST00000360468	Transcript	.	.	ENSG00000196547	6825	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.524)	.	deleterious(0.01)	.	MA2A2_HUMAN	MAN2A2	HGNC	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN	.	UPI0000408EF0	SNV	MAN2A2,missense_variant,p.Asp157Tyr,ENST00000360468,;MAN2A2,missense_variant,p.Asp157Tyr,ENST00000559717,;MAN2A2,missense_variant,p.Asp71Tyr,ENST00000559132,;MAN2A2,upstream_gene_variant,,ENST00000557865,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,downstream_gene_variant,,ENST00000559999,;MAN2A2,upstream_gene_variant,,ENST00000560616,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,upstream_gene_variant,,ENST00000431652,;MAN2A2,upstream_gene_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000561240,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Asp157Tyr,ENST00000558161,;MAN2A2,missense_variant,p.Asp157Tyr,ENST00000560451,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,upstream_gene_variant,,ENST00000560505,;MAN2A2,upstream_gene_variant,,ENST00000561046,;	487	100	98	SUCCESS
KNOP1	400506	.	GRCh37	16	19729525	19729525	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	25	0	ENST00000219837.7:c.-48C>G		p.*16*	ENST00000219837	NM_001012991.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10580.1	.	MUTECT|MUSE|VARSCANS	.	CCGCCGTGACC	NONE	.	.	.	.	.	ENSP00000324901	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000320394	Transcript	.	.	ENSG00000174628	28556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IQCK_HUMAN	IQCK	HGNC	B4E1V3_HUMAN	.	UPI0000072C5C	SNV	IQCK,5_prime_UTR_variant,,ENST00000320394,;KNOP1,5_prime_UTR_variant,,ENST00000219837,;KNOP1,upstream_gene_variant,,ENST00000567367,;IQCK,upstream_gene_variant,,ENST00000564186,;IQCK,upstream_gene_variant,,ENST00000541926,;KNOP1,upstream_gene_variant,,ENST00000564480,;IQCK,upstream_gene_variant,,ENST00000433597,;AC002550.5,downstream_gene_variant,,ENST00000565916,;IQCK,5_prime_UTR_variant,,ENST00000568126,;IQCK,5_prime_UTR_variant,,ENST00000308214,;KNOP1,non_coding_transcript_exon_variant,,ENST00000565844,;IQCK,upstream_gene_variant,,ENST00000564955,;IQCK,upstream_gene_variant,,ENST00000564515,;IQCK,upstream_gene_variant,,ENST00000561935,;IQCK,upstream_gene_variant,,ENST00000566312,;IQCK,upstream_gene_variant,,ENST00000568300,;IQCK,upstream_gene_variant,,ENST00000561839,;	596	25	32	SUCCESS
TBX6	6911	.	GRCh37	16	30100136	30100136	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	56	91	0	ENST00000279386.2:c.646T>G	p.Tyr216Asp	p.Y216D	ENST00000279386		216	Tac/Gac	0	.	.	.	.	.	C	Y/D	protein_coding	YES	CCDS10670.1	646	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTACTTGT	NONE	.	.	PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF85,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937,Prints_domain:PR00938	.	.	ENSP00000378650	.	5/9	.	.	.	.	.	.	.	.	.	5/9	PASS	ENST00000395224	Transcript	.	.	ENSG00000149922	11605	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	TBX6_HUMAN	TBX6	HGNC	.	.	UPI000013DBC7	SNV	TBX6,missense_variant,p.Tyr216Asp,ENST00000279386,;TBX6,missense_variant,p.Tyr216Asp,ENST00000553607,;TBX6,missense_variant,p.Tyr216Asp,ENST00000395224,;PPP4C,downstream_gene_variant,,ENST00000562222,;PPP4C,downstream_gene_variant,,ENST00000562664,;YPEL3,downstream_gene_variant,,ENST00000566595,;YPEL3,downstream_gene_variant,,ENST00000566134,;YPEL3,downstream_gene_variant,,ENST00000398841,;YPEL3,downstream_gene_variant,,ENST00000563788,;PPP4C,downstream_gene_variant,,ENST00000561610,;YPEL3,downstream_gene_variant,,ENST00000565110,;PPP4C,downstream_gene_variant,,ENST00000279387,;YPEL3,downstream_gene_variant,,ENST00000398838,;YPEL3,downstream_gene_variant,,ENST00000562641,;YPEL3,downstream_gene_variant,,ENST00000565479,;YPEL3,downstream_gene_variant,,ENST00000568674,;TBX6,missense_variant,p.Tyr216Asp,ENST00000567664,;PPP4C,downstream_gene_variant,,ENST00000563732,;PPP4C,downstream_gene_variant,,ENST00000566749,;PPP4C,downstream_gene_variant,,ENST00000563200,;YPEL3,downstream_gene_variant,,ENST00000570099,;YPEL3,downstream_gene_variant,,ENST00000568681,;	706	91	142	SUCCESS
PHKB	5257	.	GRCh37	16	47699867	47699867	+	intron_variant	Intron	SNP	G	G	A	rs527426323	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	11	82	0	ENST00000323584.5:c.2427+981G>A		p.*809*	ENST00000323584	NM_000293.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS10729.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACGCCGTGCAG	NONE	by1000G	.	.	A:0	.	ENSP00000313504	A:0	.	.	.	.	.	.	.	.	.	rs527426323	.	PASS	ENST00000323584	Transcript	.	A:0.0002	ENSG00000102893	8927	.	.	MODIFIER	25/30	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	KPBB_HUMAN	PHKB	HGNC	Q6LAJ4_HUMAN	.	UPI0000141140	SNV	PHKB,missense_variant,p.Arg784His,ENST00000299167,;PHKB,missense_variant,p.Arg91His,ENST00000566275,;PHKB,missense_variant,p.Arg777His,ENST00000566044,;PHKB,intron_variant,,ENST00000323584,;PHKB,intron_variant,,ENST00000455779,;PHKB,non_coding_transcript_exon_variant,,ENST00000566319,;PHKB,downstream_gene_variant,,ENST00000568171,;	.	82	93	SUCCESS
MMP2	4313	.	GRCh37	16	55522498	55522498	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs755549743	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	35	58	0	ENST00000219070.4:c.876G>T	p.Lys292Asn	p.K292N	ENST00000219070	NM_004530.4	292	aaG/aaT	0	.	.	.	.	.	T	K/N	protein_coding	YES	CCDS10752.1	876	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAAGTTTCC	NONE	.	.	PROSITE_profiles:PS51092,hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201,PROSITE_patterns:PS00023,Gene3D:2.10.10.10,Pfam_domain:PF00040,Pfam_domain:PF00413,SMART_domains:SM00059,SMART_domains:SM00235,Superfamily_domains:SSF57440	.	.	ENSP00000219070	.	6/13	.	.	.	.	.	.	.	.	rs755549743	6/13	PASS	ENST00000219070	Transcript	.	.	ENSG00000087245	7166	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	tolerated(0.19)	.	MMP2_HUMAN	MMP2	HGNC	Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN	.	UPI00000422C4	SNV	MMP2,missense_variant,p.Lys216Asn,ENST00000543485,;MMP2,missense_variant,p.Lys216Asn,ENST00000570308,;MMP2,missense_variant,p.Lys292Asn,ENST00000219070,;MMP2,missense_variant,p.Lys242Asn,ENST00000437642,;MMP2,downstream_gene_variant,,ENST00000568715,;MMP2,downstream_gene_variant,,ENST00000564864,;MMP2,upstream_gene_variant,,ENST00000570283,;	1385	58	82	SUCCESS
C16orf11	0	.	GRCh37	16	613785	613785	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs758673124	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	16	63	0	ENST00000409413.3:c.491C>T	p.Pro164Leu	p.P164L	ENST00000409413	NM_145270.2	164	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS45365.1	491	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCGGGGA	NONE	.	.	hmmpanther:PTHR14678,hmmpanther:PTHR14678:SF2	.	.	ENSP00000386499	.	2/3	.	.	.	.	.	.	.	.	rs758673124	2/3	PASS	ENST00000409413	Transcript	.	.	ENSG00000161992	14139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	CP011_HUMAN	C16orf11	HGNC	.	.	UPI000006F4B0	SNV	C16orf11,missense_variant,p.Pro164Leu,ENST00000409413,;NHLRC4,upstream_gene_variant,,ENST00000424439,;NHLRC4,upstream_gene_variant,,ENST00000540585,;PIGQ,upstream_gene_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000293874,;	770	63	66	SUCCESS
NHLRC4	283948	.	GRCh37	16	618039	618039	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	rs1364697935	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	34	0	ENST00000424439.2:c.-9C>T		p.*3*	ENST00000424439				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45366.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCCCAGCC	NONE	.	.	.	.	.	ENSP00000410858	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000424439	Transcript	.	.	ENSG00000257108	26700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NHLC4_HUMAN	NHLRC4	HGNC	.	.	UPI0000073D57	SNV	NHLRC4,5_prime_UTR_variant,,ENST00000424439,;NHLRC4,5_prime_UTR_variant,,ENST00000540585,;PIGQ,intron_variant,,ENST00000293874,;PIGQ,intron_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000321878,;PIGQ,upstream_gene_variant,,ENST00000409439,;PIGQ,upstream_gene_variant,,ENST00000439574,;PIGQ,upstream_gene_variant,,ENST00000470411,;C16orf11,downstream_gene_variant,,ENST00000409413,;PIGQ,upstream_gene_variant,,ENST00000026218,;PIGQ,upstream_gene_variant,,ENST00000422307,;PIGQ,upstream_gene_variant,,ENST00000443147,;	649	34	35	SUCCESS
SLC12A4	6560	.	GRCh37	16	67985897	67985897	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	85	0	ENST00000316341.3:c.961G>T	p.Asp321Tyr	p.D321Y	ENST00000316341	NM_001145961.1	321	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS54032.1	967	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCAAACT	NONE	.	.	TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46	.	.	ENSP00000395983	.	7/23	.	.	.	.	.	.	.	.	COSM1302151	7/23	PASS	ENST00000422611	Transcript	.	.	ENSG00000124067	10913	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.785)	.	deleterious(0)	1	S12A4_HUMAN	SLC12A4	HGNC	J3QRE2_HUMAN,I3L4N6_HUMAN	.	UPI00019863A8	SNV	SLC12A4,missense_variant,p.Asp315Tyr,ENST00000537830,;SLC12A4,missense_variant,p.Asp290Tyr,ENST00000541864,;SLC12A4,missense_variant,p.Asp321Tyr,ENST00000576616,;SLC12A4,missense_variant,p.Asp273Tyr,ENST00000572037,;SLC12A4,missense_variant,p.Asp321Tyr,ENST00000316341,;SLC12A4,missense_variant,p.Asp321Tyr,ENST00000338335,;SLC12A4,missense_variant,p.Asp323Tyr,ENST00000422611,;SLC12A4,downstream_gene_variant,,ENST00000571299,;SLC12A4,downstream_gene_variant,,ENST00000572010,;SLC12A4,3_prime_UTR_variant,,ENST00000576377,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000574665,;SLC12A4,upstream_gene_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,upstream_gene_variant,,ENST00000573702,;SLC12A4,upstream_gene_variant,,ENST00000572766,;SLC12A4,upstream_gene_variant,,ENST00000576513,;	1007	85	107	SUCCESS
HAS3	3038	.	GRCh37	16	69143870	69143870	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	68	0	ENST00000306560.1:c.572G>A	p.Gly191Glu	p.G191E	ENST00000306560	NM_005329.2	191	gGa/gAa	0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS10871.1	572	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGAGGCA	NONE	.	.	hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF6,Pfam_domain:PF13641,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	.	.	ENSP00000304440	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000306560	Transcript	.	.	ENSG00000103044	4820	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.952)	.	deleterious(0)	.	HYAS3_HUMAN	HAS3	HGNC	H3BRH5_HUMAN,C0KZD9_HUMAN	.	UPI000013EB57	SNV	HAS3,missense_variant,p.Gly191Glu,ENST00000306560,;HAS3,missense_variant,p.Gly191Glu,ENST00000566118,;HAS3,missense_variant,p.Gly191Glu,ENST00000219322,;HAS3,missense_variant,p.Gly191Glu,ENST00000569188,;HAS3,downstream_gene_variant,,ENST00000568321,;	728	68	83	SUCCESS
ATAD5	79915	.	GRCh37	17	29187555	29187555	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	345	224	411	0	ENST00000321990.4:c.3061G>T	p.Glu1021Ter	p.E1021*	ENST00000321990	NM_024857.3	1021	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS11260.1	3061	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGAGAAG	NONE	.	.	hmmpanther:PTHR15828:SF1,hmmpanther:PTHR15828	.	.	ENSP00000313171	.	10/23	.	.	.	.	.	.	.	.	.	10/23	PASS	ENST00000321990	Transcript	.	.	ENSG00000176208	25752	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATAD5_HUMAN	ATAD5	HGNC	.	.	UPI0000071E9E	SNV	ATAD5,stop_gained,p.Glu1021Ter,ENST00000321990,;RNU6-298P,upstream_gene_variant,,ENST00000390888,;CTD-2349P21.11,intron_variant,,ENST00000580873,;RP13-753N3.1,downstream_gene_variant,,ENST00000584157,;ATAD5,stop_gained,p.Glu1021Ter,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;	3439	411	569	SUCCESS
KRTAP4-6	81871	.	GRCh37	17	39296258	39296258	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs750082392	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	13	111	1	ENST00000345847.4:c.482G>A	p.Arg161His	p.R161H	ENST00000345847	NM_030976.1	161	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS54125.1	482	MUTECT|MUSE	.	ACGGGCGGCAG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23262,Pfam_domain:PF13885	.	.	ENSP00000328270	.	1/1	.	.	.	.	.	.	.	.	rs750082392	1/1	PASS	ENST00000345847	Transcript	.	.	ENSG00000198090	18909	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious(0.03)	.	KRA46_HUMAN	KRTAP4-6	HGNC	.	.	UPI00006C17B9	SNV	KRTAP4-6,missense_variant,p.Arg161His,ENST00000345847,;	482	112	138	SUCCESS
PLEKHH3	79990	.	GRCh37	17	40824222	40824223	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	63	0	ENST00000591022.1:c.957dup	p.Gly320ArgfsTer154	p.G320Rfs*154	ENST00000591022	NM_024927.4	319	-/C	0	.	.	.	.	.	G	-/X	protein_coding	YES	CCDS11434.1	957-958	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCCCGGGGG	NONE	.	.	PROSITE_profiles:PS51016,hmmpanther:PTHR22903,Pfam_domain:PF00784,SMART_domains:SM00139	.	.	ENSP00000468678	.	7/13	.	.	.	.	.	.	.	.	.	7/13	PASS	ENST00000591022	Transcript	.	.	ENSG00000068137	26105	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKHH3_HUMAN	PLEKHH3	HGNC	.	.	UPI0000200DD6	insertion	PLEKHH3,frameshift_variant,p.Gly320ArgfsTer181,ENST00000412503,;PLEKHH3,frameshift_variant,p.Gly320ArgfsTer154,ENST00000591022,;PLEKHH3,frameshift_variant,p.Gly320ArgfsTer181,ENST00000293349,;PLEKHH3,downstream_gene_variant,,ENST00000587627,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000456950,;PLEKHH3,downstream_gene_variant,,ENST00000592974,;PLEKHH3,downstream_gene_variant,,ENST00000591544,;PLEKHH3,frameshift_variant,p.Gly320ArgfsTer154,ENST00000591196,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591490,;PLEKHH3,upstream_gene_variant,,ENST00000591476,;	1345-1346	63	99	SUCCESS
COIL	8161	.	GRCh37	17	55027539	55027539	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1006291653	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	45	0	ENST00000240316.4:c.1064C>T	p.Pro355Leu	p.P355L	ENST00000240316	NM_004645.2	355	cCa/cTa	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS11592.1	1064	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCTGGGCCT	NONE	.	.	hmmpanther:PTHR15197:SF0,hmmpanther:PTHR15197	.	.	ENSP00000240316	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000240316	Transcript	.	.	ENSG00000121058	2184	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.09)	.	COIL_HUMAN	COIL	HGNC	.	.	UPI0000131068	SNV	COIL,missense_variant,p.Pro355Leu,ENST00000240316,;COIL,downstream_gene_variant,,ENST00000573008,;RP5-1107A17.2,upstream_gene_variant,,ENST00000570407,;	1099	45	58	SUCCESS
TEX2	55852	.	GRCh37	17	62238222	62238222	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	106	0	ENST00000583097.1:c.2743A>G	p.Thr915Ala	p.T915A	ENST00000583097		915	Acc/Gcc	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS11658.1	2764	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTCAAAT	NONE	.	.	hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2	.	.	ENSP00000258991	.	8/12	.	.	.	.	.	.	.	.	.	8/12	PASS	ENST00000258991	Transcript	.	.	ENSG00000136478	30884	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.07)	.	tolerated(0.29)	.	TEX2_HUMAN	TEX2	HGNC	Q9NX99_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN	.	UPI00001AE7BC	SNV	TEX2,missense_variant,p.Thr915Ala,ENST00000584379,;TEX2,missense_variant,p.Thr922Ala,ENST00000258991,;TEX2,missense_variant,p.Thr915Ala,ENST00000583097,;TEX2,missense_variant,p.Thr416Ala,ENST00000583501,;TEX2,intron_variant,,ENST00000577489,;TEX2,upstream_gene_variant,,ENST00000584498,;	2849	106	107	SUCCESS
HELZ	9931	.	GRCh37	17	65103749	65103749	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	77	154	0	ENST00000358691.5:c.4777G>T	p.Glu1593Ter	p.E1593*	ENST00000358691	NM_014877.3	1593	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS42374.1	4777	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTCCCGTG	NONE	.	.	.	.	.	ENSP00000351524	.	31/33	.	.	.	.	.	.	.	.	.	31/33	PASS	ENST00000358691	Transcript	.	.	ENSG00000198265	16878	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HELZ_HUMAN	HELZ	HGNC	J3KT20_HUMAN,J3KS59_HUMAN	.	UPI000013D7F5	SNV	HELZ,stop_gained,p.Glu1594Ter,ENST00000580168,;HELZ,stop_gained,p.Glu1593Ter,ENST00000358691,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	4944	154	170	SUCCESS
ABCA10	10349	.	GRCh37	17	67148533	67148533	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142258568	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	56	78	0	ENST00000269081.4:c.4226G>A	p.Arg1409His	p.R1409H	ENST00000269081	NM_080282.3	1409	cGt/cAt	0	.	T:0	.	T:0.0014	.	T	R/H	protein_coding	YES	CCDS11684.1	4226	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATACGGTCA	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	T:0	.	ENSP00000269081	T:0	36/40	.	.	.	.	.	.	.	.	rs142258568,COSM4130536	36/40	PASS	ENST00000269081	Transcript	.	T:0.0004	ENSG00000154263	30	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.849)	T:0.001	deleterious(0)	0,1	ABCAA_HUMAN	ABCA10	HGNC	K7ERP5_HUMAN	.	UPI000013D7F6	SNV	ABCA10,missense_variant,p.Arg1409His,ENST00000269081,;ABCA10,3_prime_UTR_variant,,ENST00000416101,;ABCA10,upstream_gene_variant,,ENST00000522787,;ABCA10,upstream_gene_variant,,ENST00000521538,;ABCA10,non_coding_transcript_exon_variant,,ENST00000519732,;ABCA10,3_prime_UTR_variant,,ENST00000523419,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;ABCA10,upstream_gene_variant,,ENST00000524231,;ABCA10,upstream_gene_variant,,ENST00000588514,;	5136	78	103	SUCCESS
JMJD6	23210	.	GRCh37	17	74721921	74721921	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs367636744	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	47	0	ENST00000397625.4:c.146C>T	p.Ala49Val	p.A49V	ENST00000397625	NM_015167.2	49	gCa/gTa	0	T:0	.	.	.	.	A	A/V	protein_coding	YES	CCDS42383.1	146	MUTECT|MUSE	.	CATCTGCCCTT	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12480:SF5,hmmpanther:PTHR12480,Superfamily_domains:SSF51197	.	T:0.0002	ENSP00000394085	.	2/7	.	.	.	.	.	.	.	.	rs367636744	2/7	PASS	ENST00000445478	Transcript	.	.	ENSG00000070495	19355	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.001)	.	tolerated(0.73)	.	JMJD6_HUMAN	JMJD6	HGNC	.	.	UPI00003DFD0B	SNV	JMJD6,missense_variant,p.Ala49Val,ENST00000585429,;JMJD6,missense_variant,p.Ala49Val,ENST00000397625,;JMJD6,missense_variant,p.Ala49Val,ENST00000445478,;METTL23,upstream_gene_variant,,ENST00000591571,;METTL23,upstream_gene_variant,,ENST00000590964,;METTL23,upstream_gene_variant,,ENST00000588783,;METTL23,upstream_gene_variant,,ENST00000588302,;METTL23,upstream_gene_variant,,ENST00000586200,;METTL23,upstream_gene_variant,,ENST00000592849,;METTL23,upstream_gene_variant,,ENST00000586752,;METTL23,upstream_gene_variant,,ENST00000588563,;METTL23,upstream_gene_variant,,ENST00000588822,;METTL23,upstream_gene_variant,,ENST00000589977,;METTL23,upstream_gene_variant,,ENST00000586738,;METTL23,upstream_gene_variant,,ENST00000341249,;JMJD6,missense_variant,p.Ala49Val,ENST00000542934,;JMJD6,missense_variant,p.Ala49Val,ENST00000303996,;METTL23,upstream_gene_variant,,ENST00000589581,;JMJD6,upstream_gene_variant,,ENST00000591460,;	350	47	66	SUCCESS
TNRC6C	57690	.	GRCh37	17	76087679	76087679	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	60	0	ENST00000301624.4:c.3961A>G	p.Ser1321Gly	p.S1321G	ENST00000301624	NM_018996.3	1321	Agc/Ggc	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS45799.1	3952	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTAGCAAG	NONE	.	.	hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	.	.	ENSP00000336783	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000335749	Transcript	.	.	ENSG00000078687	29318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.21)	.	.	TNRC6C	HGNC	K7ELY5_HUMAN,K7EKN9_HUMAN,G3XAB8_HUMAN	.	UPI0000EE5F80	SNV	TNRC6C,missense_variant,p.Ser1321Gly,ENST00000301624,;TNRC6C,missense_variant,p.Ser1318Gly,ENST00000335749,;TNRC6C,missense_variant,p.Ser1318Gly,ENST00000544502,;TNRC6C,missense_variant,p.Ser1321Gly,ENST00000541771,;TNRC6C,missense_variant,p.Ser1321Gly,ENST00000588061,;TNRC6C,missense_variant,p.Ser1318Gly,ENST00000588847,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000592251,;	4521	60	63	SUCCESS
EMILIN2	84034	.	GRCh37	18	2891712	2891712	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	77	0	ENST00000254528.3:c.1587G>A	p.Gly529=	p.G529=	ENST00000254528	NM_032048.2	529	ggG/ggA	0	.	.	.	.	.	A	G	protein_coding	YES	CCDS11828.1	1587	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGGTCAGG	NONE	.	.	hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5	.	.	ENSP00000254528	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000254528	Transcript	.	.	ENSG00000132205	19881	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMIL2_HUMAN	EMILIN2	HGNC	.	.	UPI000013CE3E	SNV	EMILIN2,synonymous_variant,p.%3D,ENST00000254528,;	1746	77	90	SUCCESS
FHOD3	80206	.	GRCh37	18	34326998	34326998	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	35	203	0	ENST00000359247.4:c.3556G>T	p.Glu1186Ter	p.E1186*	ENST00000359247	NM_001281739.1	1186	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS32816.1	3607	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATGAAATG	NONE	.	.	PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF213,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	.	.	ENSP00000257209	.	21/25	.	.	.	.	.	.	.	.	COSM361186	21/25	PASS	ENST00000257209	Transcript	.	.	ENSG00000134775	26178	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FHOD3_HUMAN	FHOD3	HGNC	.	.	UPI0000251DB7	SNV	FHOD3,stop_gained,p.Glu1165Ter,ENST00000445677,;FHOD3,stop_gained,p.Glu964Ter,ENST00000592930,;FHOD3,stop_gained,p.Glu1203Ter,ENST00000257209,;FHOD3,stop_gained,p.Glu1378Ter,ENST00000590592,;FHOD3,stop_gained,p.Glu399Ter,ENST00000591635,;FHOD3,stop_gained,p.Glu220Ter,ENST00000585579,;FHOD3,stop_gained,p.Glu182Ter,ENST00000592128,;FHOD3,stop_gained,p.Glu1186Ter,ENST00000359247,;	3729	203	177	SUCCESS
SERPINB4	6318	.	GRCh37	18	61305147	61305147	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	53	88	0	ENST00000341074.5:c.979A>T	p.Lys327Ter	p.K327*	ENST00000341074	NM_002974.2	327	Aaa/Taa	0	.	.	.	.	.	A	K/*	protein_coding	YES	CCDS11986.1	979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTTTAGATA	NONE	.	.	hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000343445	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000341074	Transcript	.	.	ENSG00000206073	10570	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPB4_HUMAN	SERPINB4	HGNC	.	.	UPI0000038A1A	SNV	SERPINB4,stop_gained,p.Lys327Ter,ENST00000341074,;SERPINB4,stop_gained,p.Lys308Ter,ENST00000413673,;SERPINB4,stop_gained,p.Lys275Ter,ENST00000356424,;SERPINB4,downstream_gene_variant,,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;	1095	88	103	SUCCESS
ANKRD12	23253	.	GRCh37	18	9258165	9258165	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	43	78	0	ENST00000262126.4:c.4900G>C	p.Glu1634Gln	p.E1634Q	ENST00000262126	NM_015208.4	1634	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS11843.1	4900	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGAAAAC	NONE	.	.	hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	.	.	ENSP00000262126	.	9/13	.	.	.	.	.	.	.	.	.	9/13	PASS	ENST00000262126	Transcript	.	.	ENSG00000101745	29135	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.323)	.	tolerated_low_confidence(0.07)	.	ANR12_HUMAN	ANKRD12	HGNC	J3QRX3_HUMAN	.	UPI0000073327	SNV	ANKRD12,missense_variant,p.Glu1634Gln,ENST00000262126,;ANKRD12,missense_variant,p.Glu1611Gln,ENST00000383440,;ANKRD12,missense_variant,p.Glu1611Gln,ENST00000400020,;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000359158,;	5140	78	87	SUCCESS
PCSK4	54760	.	GRCh37	19	1490287	1490287	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs765591904	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	43	0	ENST00000300954.5:c.59G>A	p.Arg20His	p.R20H	ENST00000300954	NM_017573.3	20	cGc/cAc	0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS12069.2	59	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCGGACA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10795:SF338,hmmpanther:PTHR10795	.	.	ENSP00000300954	.	1/15	.	.	.	.	.	.	.	.	rs765591904	1/15	PASS	ENST00000300954	Transcript	.	.	ENSG00000115257	8746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.019)	.	tolerated(0.6)	.	PCSK4_HUMAN	PCSK4	HGNC	.	.	UPI000014E136	SNV	PCSK4,missense_variant,p.Arg20His,ENST00000588671,;PCSK4,missense_variant,p.Arg20His,ENST00000300954,;REEP6,upstream_gene_variant,,ENST00000233596,;PCSK4,intron_variant,,ENST00000590057,;PCSK4,intron_variant,,ENST00000587784,;PCSK4,intron_variant,,ENST00000591687,;PCSK4,missense_variant,p.Arg17His,ENST00000591201,;PCSK4,missense_variant,p.Arg20His,ENST00000588195,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;REEP6,upstream_gene_variant,,ENST00000591735,;	121	43	29	SUCCESS
GATAD2A	54815	.	GRCh37	19	19607000	19607000	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	50	0	ENST00000358713.3:c.896A>G	p.Asn299Ser	p.N299S	ENST00000358713		299	aAc/aGc	0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS12402.2	896	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAACACCA	NONE	.	.	hmmpanther:PTHR13455,hmmpanther:PTHR13455:SF3	.	.	ENSP00000353463	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000360315	Transcript	.	.	ENSG00000167491	29989	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.008)	.	tolerated(0.29)	.	P66A_HUMAN	GATAD2A	HGNC	C9JVY3_HUMAN,C9JMI3_HUMAN,C9JJK9_HUMAN,C9JHD7_HUMAN,C9JGN4_HUMAN	.	UPI000000D88C	SNV	GATAD2A,missense_variant,p.Asn299Ser,ENST00000404158,;GATAD2A,missense_variant,p.Asn126Ser,ENST00000429563,;GATAD2A,missense_variant,p.Asn299Ser,ENST00000358713,;GATAD2A,missense_variant,p.Asn299Ser,ENST00000252577,;GATAD2A,missense_variant,p.Asn299Ser,ENST00000360315,;GATAD2A,intron_variant,,ENST00000537887,;GATAD2A,downstream_gene_variant,,ENST00000457895,;GATAD2A,downstream_gene_variant,,ENST00000429242,;GATAD2A,downstream_gene_variant,,ENST00000444839,;GATAD2A,downstream_gene_variant,,ENST00000417582,;GATAD2A,downstream_gene_variant,,ENST00000432704,;GATAD2A,downstream_gene_variant,,ENST00000473184,;GATAD2A,3_prime_UTR_variant,,ENST00000418032,;GATAD2A,intron_variant,,ENST00000609040,;	1208	50	52	SUCCESS
ZNF99	7652	.	GRCh37	19	22941385	22941385	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	29	56	0	ENST00000596209.1:c.1326A>T	p.Lys442Asn	p.K442N	ENST00000596209	NM_001080409.2	442	aaA/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS59369.1	1326	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATGTTTTCT	NONE	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	.	.	ENSP00000472969	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.772)	.	tolerated(0.47)	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Lys351Asn,ENST00000397104,;ZNF99,missense_variant,p.Lys442Asn,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	1417	56	67	SUCCESS
ZNF91	7644	.	GRCh37	19	23545201	23545201	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs377229432	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	8	111	0	ENST00000300619.7:c.580C>T	p.Arg194Cys	p.R194C	ENST00000300619	NM_003430.2	194	Cgt/Tgt	0	A:0.0005	.	.	.	.	A	R/C	protein_coding	YES	CCDS42541.1	580	MUTECT|MUSE	.	TAAACGGATGC	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF57667,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	.	A:0.0001	ENSP00000300619	.	4/4	.	.	.	.	.	.	.	.	rs377229432	4/4	PASS	ENST00000300619	Transcript	.	.	ENSG00000167232	13166	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.155)	.	tolerated(0.19)	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,missense_variant,p.Arg95Cys,ENST00000595533,;ZNF91,missense_variant,p.Arg162Cys,ENST00000397082,;ZNF91,missense_variant,p.Arg194Cys,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	786	111	149	SUCCESS
C19orf48	84798	.	GRCh37	19	51301638	51301638	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	16	47	0	ENST00000345523.4:c.68del	p.Pro23GlnfsTer22	p.P23Qfs*22	ENST00000345523	NM_199250.1	23	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS12803.1	68	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCCCTGGCACC	NONE	.	.	.	.	.	ENSP00000471463	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000598463	Transcript	.	.	ENSG00000167747	29667	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CS048_HUMAN	C19orf48	HGNC	M0R3D1_HUMAN,M0R1Y9_HUMAN,M0R1J5_HUMAN,M0QZC8_HUMAN,M0QXL0_HUMAN	.	UPI000006ECB0	deletion	C19orf48,frameshift_variant,p.Pro23GlnfsTer?,ENST00000601267,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000345523,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000391812,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000596287,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000597705,;C19orf48,frameshift_variant,p.Pro23GlnfsTer?,ENST00000600373,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000597493,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000596655,;C19orf48,frameshift_variant,p.Pro23GlnfsTer22,ENST00000598463,;C19orf48,intron_variant,,ENST00000593287,;ACPT,downstream_gene_variant,,ENST00000270594,;ACPT,downstream_gene_variant,,ENST00000270593,;SNORD88A,downstream_gene_variant,,ENST00000408314,;SNORD88C,downstream_gene_variant,,ENST00000408061,;SNORD88B,downstream_gene_variant,,ENST00000408454,;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000596554,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000602125,;	1167	47	83	SUCCESS
LILRA5	353514	.	GRCh37	19	54822761	54822761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	61	120	0	ENST00000432233.3:c.635T>A	p.Leu212His	p.L212H	ENST00000432233	NM_181879.2	212	cTc/cAc	0	.	.	.	.	.	T	L/H	protein_coding	YES	CCDS12888.1	635	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGAGCATC	NONE	.	.	hmmpanther:PTHR11738,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000301219	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000301219	Transcript	.	.	ENSG00000187116	16309	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.965)	.	deleterious(0)	.	LIRA5_HUMAN	LILRA5	HGNC	.	.	UPI0000034C06	SNV	LILRA5,missense_variant,p.Leu200His,ENST00000346508,;LILRA5,missense_variant,p.Leu212His,ENST00000432233,;LILRA5,missense_variant,p.Leu212His,ENST00000301219,;LILRA5,missense_variant,p.Leu200His,ENST00000446712,;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000477720,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;	755	121	130	SUCCESS
MUC16	94025	.	GRCh37	19	9072804	9072804	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	219	26	201	1	ENST00000397910.4:c.14642A>C	p.Lys4881Thr	p.K4881T	ENST00000397910	NM_024690.2	4881	aAg/aCg	0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS54212.1	14642	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCTTAGAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381008	.	3/84	.	.	.	.	.	.	.	.	.	3/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,missense_variant,p.Lys4881Thr,ENST00000397910,;	14846	202	246	SUCCESS
NBPF10	100132406	.	GRCh37	1	145298329	145298329	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	12	97	0	ENST00000342960.5:c.741T>A	p.Ser247=	p.S247=	ENST00000342960	NM_001039703.5	247	tcT/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	.	741	RADIA|VARSCANS	.	TCCTCTCATGA	NONE	.	.	PROSITE_profiles:PS51316	.	.	ENSP00000345684	.	5/84	.	.	.	.	.	.	.	.	.	5/84	PASS	ENST00000342960	Transcript	.	.	ENSG00000163386	31992	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NBPF10	HGNC	S4R3H5_HUMAN,A6NDV3_HUMAN	.	UPI0001CE93AE	SNV	NBPF10,synonymous_variant,p.%3D,ENST00000342960,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369339,;NBPF10,intron_variant,,ENST00000369338,;NBPF10,upstream_gene_variant,,ENST00000605176,;NBPF10,synonymous_variant,p.%3D,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;	776	97	107	SUCCESS
PDZK1	5174	.	GRCh37	1	145747212	145747212	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	79	156	0	ENST00000344770.2:c.169A>G	p.Arg57Gly	p.R57G	ENST00000344770	NM_002614.4	57	Agg/Ggg	0	.	.	.	.	.	G	R/G	protein_coding	YES	CCDS924.1	169	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTAGGATC	NONE	.	.	PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF6,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	.	.	ENSP00000342143	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000344770	Transcript	.	.	ENSG00000174827	8821	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.909)	.	deleterious(0)	.	NHRF3_HUMAN	PDZK1	HGNC	.	.	UPI000006D202	SNV	PDZK1,missense_variant,p.Arg57Gly,ENST00000417171,;PDZK1,missense_variant,p.Arg57Gly,ENST00000344770,;PDZK1,missense_variant,p.Arg57Gly,ENST00000451928,;PDZK1,missense_variant,p.Arg57Gly,ENST00000443667,;	242	156	201	SUCCESS
HRNR	388697	.	GRCh37	1	152192560	152192560	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	86	0	ENST00000368801.2:c.1545C>A	p.Ser515=	p.S515=	ENST00000368801	NM_001009931.2	515	tcC/tcA	0	.	.	.	.	.	T	S	protein_coding	YES	CCDS30859.1	1545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGGAAGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,synonymous_variant,p.%3D,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	1621	86	100	SUCCESS
HRNR	388697	.	GRCh37	1	152192561	152192561	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146581615	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	86	0	ENST00000368801.2:c.1544C>A	p.Ser515Tyr	p.S515Y	ENST00000368801	NM_001009931.2	515	tCc/tAc	0	A:0.0009	.	.	.	.	T	S/Y	protein_coding	YES	CCDS30859.1	1544	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGGAAGAT	NONE	byCluster	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	.	A:0	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	rs146581615	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,missense_variant,p.Ser515Tyr,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	1620	86	99	SUCCESS
FLG2	388698	.	GRCh37	1	152327802	152327802	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	74	102	0	ENST00000388718.5:c.2460T>A	p.Phe820Leu	p.F820L	ENST00000388718	NM_001014342.2	820	ttT/ttA	0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS30861.1	2460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAAAGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	.	.	ENSP00000373370	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388718	Transcript	.	.	ENSG00000143520	33276	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	FILA2_HUMAN	FLG2	HGNC	.	.	UPI00004E1DE5	SNV	FLG2,missense_variant,p.Phe820Leu,ENST00000388718,;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	2533	102	148	SUCCESS
RUSC1	23623	.	GRCh37	1	155290828	155290828	+	intron_variant	Intron	SNP	C	C	A	rs776104992	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	86	180	0	ENST00000368352.5:c.-87+46C>A		p.*29*	ENST00000368352	NM_001105203.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41410.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCACGAGGG	NONE	byFrequency	.	.	.	.	ENSP00000357336	.	.	.	.	.	.	.	.	.	.	rs776104992	.	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,intron_variant,,ENST00000368352,;RUSC1,intron_variant,,ENST00000368354,;RUSC1,upstream_gene_variant,,ENST00000292254,;FDPS,downstream_gene_variant,,ENST00000356657,;RUSC1,upstream_gene_variant,,ENST00000368347,;FDPS,downstream_gene_variant,,ENST00000447866,;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000368356,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000450199,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,intron_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000446880,;FDPS,downstream_gene_variant,,ENST00000470171,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;RUSC1,upstream_gene_variant,,ENST00000489860,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000461507,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;RUSC1,upstream_gene_variant,,ENST00000468764,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000462780,;FDPS,downstream_gene_variant,,ENST00000489324,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000468479,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000492887,;	.	180	276	SUCCESS
GON4L	54856	.	GRCh37	1	155720493	155720493	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	261	54	188	0	ENST00000368331.1:c.6608T>G	p.Leu2203Arg	p.L2203R	ENST00000368331	NM_001037533.1	2203	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS44242.1	6605	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAGAGCTGC	NONE	.	.	Superfamily_domains:SSF46689,Gene3D:1.10.10.60,hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF10	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.883)	.	deleterious(0)	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,missense_variant,p.Leu2202Arg,ENST00000437809,;GON4L,missense_variant,p.Leu2203Arg,ENST00000368331,;GON4L,missense_variant,p.Leu2202Arg,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,non_coding_transcript_exon_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	6728	188	315	SUCCESS
CRP	1401	.	GRCh37	1	159683527	159683527	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	42	73	0	ENST00000255030.5:c.463C>T	p.Gln155Ter	p.Q155*	ENST00000255030	NM_000567.2	155	Cag/Tag	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS30911.1	463	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTGCCCCA	NONE	.	.	hmmpanther:PTHR19277:SF93,hmmpanther:PTHR19277,Gene3D:2.60.120.200,Pfam_domain:PF00354,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895	.	.	ENSP00000255030	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000255030	Transcript	.	.	ENSG00000132693	2367	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRP_HUMAN	CRP	HGNC	C9JRE9_HUMAN	.	UPI0000128478	SNV	CRP,stop_gained,p.Gln155Ter,ENST00000255030,;CRP,5_prime_UTR_variant,,ENST00000437342,;CRP,intron_variant,,ENST00000343919,;CRP,intron_variant,,ENST00000368110,;CRP,intron_variant,,ENST00000368112,;CRP,intron_variant,,ENST00000368111,;CRP,non_coding_transcript_exon_variant,,ENST00000473196,;CRP,intron_variant,,ENST00000489317,;	567	73	140	SUCCESS
PRRX1	5396	.	GRCh37	1	170705233	170705233	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	416	80	306	0	ENST00000239461.6:c.644C>T	p.Ala215Val	p.A215V	ENST00000239461	NM_022716.2	215	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS1290.1	644	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCACAGG	NONE	.	.	hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF300	.	.	ENSP00000239461	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000239461	Transcript	.	.	ENSG00000116132	9142	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.001)	.	tolerated(0.13)	.	PRRX1_HUMAN	PRRX1	HGNC	.	.	UPI0000131D11	SNV	PRRX1,missense_variant,p.Ala215Val,ENST00000239461,;PRRX1,3_prime_UTR_variant,,ENST00000367760,;PRRX1,non_coding_transcript_exon_variant,,ENST00000485529,;PRRX1,non_coding_transcript_exon_variant,,ENST00000496573,;PRRX1,non_coding_transcript_exon_variant,,ENST00000495280,;PRRX1,non_coding_transcript_exon_variant,,ENST00000476867,;	957	306	496	SUCCESS
RNPEP	6051	.	GRCh37	1	201958548	201958548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	175	39	117	0	ENST00000295640.4:c.626C>A	p.Thr209Asn	p.T209N	ENST00000295640	NM_020216.3	209	aCc/aAc	0	.	.	.	.	.	A	T/N	protein_coding	YES	CCDS1418.1	626	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCACCTGGG	NONE	.	.	hmmpanther:PTHR11533:SF153,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:0038696	.	.	ENSP00000295640	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000295640	Transcript	.	.	ENSG00000176393	10078	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.02)	.	tolerated(0.23)	.	AMPB_HUMAN	RNPEP	HGNC	.	.	UPI00000463FA	SNV	RNPEP,missense_variant,p.Thr78Asn,ENST00000447312,;RNPEP,missense_variant,p.Thr209Asn,ENST00000367286,;RNPEP,missense_variant,p.Thr209Asn,ENST00000295640,;RNPEP,non_coding_transcript_exon_variant,,ENST00000478617,;RNPEP,non_coding_transcript_exon_variant,,ENST00000481780,;RNPEP,intron_variant,,ENST00000479726,;RNPEP,intron_variant,,ENST00000487116,;RNPEP,intron_variant,,ENST00000471105,;RNPEP,intron_variant,,ENST00000492587,;RNPEP,intron_variant,,ENST00000492849,;	669	117	214	SUCCESS
MYBPH	4608	.	GRCh37	1	203144856	203144856	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	56	0	ENST00000255416.4:c.28C>T	p.Pro10Ser	p.P10S	ENST00000255416	NM_004997.2	10	Cct/Tct	0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS30975.1	28	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGCCCT	NONE	.	.	.	.	.	ENSP00000255416	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000255416	Transcript	.	.	ENSG00000133055	7552	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated_low_confidence(0.22)	.	MYBPH_HUMAN	MYBPH	HGNC	.	.	UPI000000DA7B	SNV	MYBPH,missense_variant,p.Pro10Ser,ENST00000255416,;CHI3L1,downstream_gene_variant,,ENST00000255409,;CHI3L1,downstream_gene_variant,,ENST00000404436,;CHI3L1,downstream_gene_variant,,ENST00000472064,;CHI3L1,downstream_gene_variant,,ENST00000478742,;CHI3L1,downstream_gene_variant,,ENST00000473185,;	86	56	98	SUCCESS
C1orf116	79098	.	GRCh37	1	207196069	207196069	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs376328889	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	27	44	0	ENST00000359470.5:c.1040G>A	p.Arg347His	p.R347H	ENST00000359470	NM_023938.5	347	cGt/cAt	0	T:0.0002	.	.	.	.	T	R/H	protein_coding	YES	CCDS1475.1	1040	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTACGTGCT	NONE	byFrequency|byCluster	.	Pfam_domain:PF15385,hmmpanther:PTHR21555:SF0,hmmpanther:PTHR21555	.	T:0	ENSP00000352447	.	4/4	.	.	.	.	.	.	.	.	rs376328889	4/4	PASS	ENST00000359470	Transcript	.	.	ENSG00000182795	28667	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SARG_HUMAN	C1orf116	HGNC	.	.	UPI000013E1EF	SNV	C1orf116,missense_variant,p.Arg101His,ENST00000461135,;C1orf116,missense_variant,p.Arg347His,ENST00000359470,;	1290	44	101	SUCCESS
TCEA3	6920	.	GRCh37	1	23720511	23720511	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	70	0	ENST00000450454.2:c.680T>G	p.Leu227Arg	p.L227R	ENST00000450454	NM_003196.1	227	cTc/cGc	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS44086.1	680	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGAGCTCT	NONE	.	.	PROSITE_profiles:PS51321,hmmpanther:PTHR11477:SF4,hmmpanther:PTHR11477,TIGRFAM_domain:TIGR01385,Gene3D:1enwA00,Pfam_domain:PF07500,SMART_domains:SM00510,PIRSF_domain:PIRSF006704,Superfamily_domains:0037100	.	.	ENSP00000406293	.	8/11	.	.	.	.	.	.	.	.	.	8/11	PASS	ENST00000450454	Transcript	.	.	ENSG00000204219	11615	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.774)	.	deleterious(0)	.	TCEA3_HUMAN	TCEA3	HGNC	.	.	UPI0000136AC2	SNV	TCEA3,missense_variant,p.Leu227Arg,ENST00000450454,;	787	70	61	SUCCESS
ZP4	57829	.	GRCh37	1	238050802	238050802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	238	39	172	0	ENST00000366570.4:c.613T>C	p.Ser205Pro	p.S205P	ENST00000366570	NM_021186.3	205	Tcg/Ccg	0	.	.	.	.	.	G	S/P	protein_coding	YES	CCDS1615.1	613	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCGAGGTCA	NONE	.	.	SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034	.	.	ENSP00000355529	.	5/12	.	.	.	.	.	.	.	.	.	5/12	PASS	ENST00000366570	Transcript	.	.	ENSG00000116996	15770	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.03)	.	tolerated(0.29)	.	ZP4_HUMAN	ZP4	HGNC	.	.	UPI000006F0E4	SNV	ZP4,missense_variant,p.Ser205Pro,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	772	172	278	SUCCESS
RGS7	6000	.	GRCh37	1	241094018	241094018	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	rs778104496	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	295	118	258	0	ENST00000366565.1:c.384T>A	p.Tyr128Ter	p.Y128*	ENST00000366565	NM_002924.4	128	taT/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS31071.1	384	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACCATAATC	NONE	.	.	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26	.	.	ENSP00000355523	.	6/18	.	.	.	.	.	.	.	.	rs778104496,COSM397104	6/18	PASS	ENST00000366565	Transcript	.	.	ENSG00000182901	10003	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	RGS7_HUMAN	RGS7	HGNC	.	.	UPI000040E182	SNV	RGS7,stop_gained,p.Tyr102Ter,ENST00000331110,;RGS7,stop_gained,p.Tyr44Ter,ENST00000446183,;RGS7,stop_gained,p.Tyr128Ter,ENST00000366564,;RGS7,stop_gained,p.Tyr128Ter,ENST00000366565,;RGS7,stop_gained,p.Tyr128Ter,ENST00000366562,;RGS7,stop_gained,p.Tyr128Ter,ENST00000407727,;RGS7,stop_gained,p.Tyr128Ter,ENST00000366563,;RGS7,intron_variant,,ENST00000401882,;RGS7,intron_variant,,ENST00000348120,;	766	258	413	SUCCESS
ZNF669	79862	.	GRCh37	1	247267552	247267552	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs771593199	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	6	99	0	ENST00000343381.6:c.-51C>T		p.*17*	ENST00000343381	NM_024804.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31088.1	.	MUTECT|MUSE	.	TACTCGCAGGT	NONE	byFrequency	.	.	.	.	ENSP00000342818	.	1/4	.	.	.	.	.	.	.	.	rs771593199	1/4	PASS	ENST00000343381	Transcript	.	.	ENSG00000188295	25736	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN669_HUMAN	ZNF669	HGNC	.	.	UPI000013E1E0	SNV	ZNF669,5_prime_UTR_variant,,ENST00000366501,;ZNF669,5_prime_UTR_variant,,ENST00000366500,;ZNF669,5_prime_UTR_variant,,ENST00000358785,;ZNF669,5_prime_UTR_variant,,ENST00000343381,;ZNF669,5_prime_UTR_variant,,ENST00000448299,;ZNF669,5_prime_UTR_variant,,ENST00000476158,;	123	99	147	SUCCESS
OR2L3	391192	.	GRCh37	1	248224067	248224067	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	66	105	0	ENST00000359959.3:c.84C>T	p.Ile28=	p.I28=	ENST00000359959	NM_001004687.1	28	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31104.1	84	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCCTCAT	NONE	.	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000353044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359959	Transcript	.	.	ENSG00000198128	15009	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2L3_HUMAN	OR2L3	HGNC	.	.	UPI0000061EB8	SNV	OR2L3,synonymous_variant,p.%3D,ENST00000359959,;OR2L13,intron_variant,,ENST00000366478,;	84	105	221	SUCCESS
OR2T2	401992	.	GRCh37	1	248616329	248616329	+	synonymous_variant	Silent	SNP	C	C	T	rs762445074	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1055	77	823	0	ENST00000342927.3:c.231C>T	p.Ile77=	p.I77=	ENST00000342927	NM_001004136.1	77	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS31116.1	231	MUTECT|MUSE	.	TGTATCACTGT	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000343062	.	1/1	.	.	.	.	.	.	.	.	rs762445074,COSM2233669	1/1	PASS	ENST00000342927	Transcript	.	.	ENSG00000196240	14725	.	.	LOW	.	PRIMARY	.	.	.	.	2	0,1	.	.	.	.	.	0,1	OR2T2_HUMAN	OR2T2	HGNC	.	.	UPI0000048DB0	SNV	OR2T2,synonymous_variant,p.%3D,ENST00000342927,;	253	823	1132	SUCCESS
AGO4	192670	.	GRCh37	1	36306921	36306921	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs780479896	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	41	165	0	ENST00000373210.3:c.1880G>T	p.Arg627Leu	p.R627L	ENST00000373210	NM_017629.3	627	cGg/cTg	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS397.1	1880	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCGGCAGG	NONE	byFrequency	.	PROSITE_profiles:PS50822,HAMAP:MF_03033,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF26,Pfam_domain:PF02171,Gene3D:3.30.420.10,SMART_domains:SM00950,Superfamily_domains:SSF53098	.	.	ENSP00000362306	.	14/18	.	.	.	.	.	.	.	.	rs780479896	14/18	PASS	ENST00000373210	Transcript	.	.	ENSG00000134698	18424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.378)	.	deleterious(0.03)	.	AGO4_HUMAN	AGO4	HGNC	Q9NXV9_HUMAN	.	UPI00001684D9	SNV	AGO4,missense_variant,p.Arg627Leu,ENST00000373210,;AGO4,upstream_gene_variant,,ENST00000488778,;	2125	166	201	SUCCESS
ALG6	29929	.	GRCh37	1	63867986	63867986	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	12	65	0	ENST00000371108.4:c.229G>C	p.Ala77Pro	p.A77P	ENST00000371108	NM_013339.3	77	Gct/Cct	0	.	.	.	.	.	C	A/P	protein_coding	YES	CCDS30735.1	229	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGCTTAT	NONE	.	.	hmmpanther:PTHR12413:SF1,hmmpanther:PTHR12413,Pfam_domain:PF03155	.	.	ENSP00000360149	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000371108	Transcript	.	.	ENSG00000088035	23157	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ALG6_HUMAN	ALG6	HGNC	.	.	UPI00001E057D	SNV	ALG6,missense_variant,p.Ala77Pro,ENST00000263440,;ALG6,missense_variant,p.Ala77Pro,ENST00000371108,;ALG6,missense_variant,p.Ala77Pro,ENST00000603108,;ALG6,3_prime_UTR_variant,,ENST00000487136,;	534	65	82	SUCCESS
FUBP1	8880	.	GRCh37	1	78422295	78422295	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	31	78	0	ENST00000370768.2:c.1667del	p.Pro556LeufsTer109	p.P556Lfs*109	ENST00000370768	NM_003902.3	556	cCt/ct	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS683.1	1667	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTGCAGGGGCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF99,hmmpanther:PTHR10288	.	.	ENSP00000359804	.	17/20	.	.	.	.	.	.	.	.	.	17/20	PASS	ENST00000370768	Transcript	.	.	ENSG00000162613	4004	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FUBP1_HUMAN	FUBP1	HGNC	.	.	UPI0000070218	deletion	FUBP1,frameshift_variant,p.Pro577LeufsTer109,ENST00000436586,;FUBP1,frameshift_variant,p.Pro556LeufsTer173,ENST00000370767,;FUBP1,frameshift_variant,p.Pro556LeufsTer109,ENST00000370768,;FUBP1,non_coding_transcript_exon_variant,,ENST00000470287,;FUBP1,upstream_gene_variant,,ENST00000492724,;FUBP1,upstream_gene_variant,,ENST00000492405,;FUBP1,upstream_gene_variant,,ENST00000487684,;FUBP1,frameshift_variant,p.Pro555LeufsTer95,ENST00000294623,;	1749	78	109	SUCCESS
FUBP1	8880	.	GRCh37	1	78429310	78429310	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	180	119	262	0	ENST00000370768.2:c.1132G>T	p.Glu378Ter	p.E378*	ENST00000370768	NM_003902.3	378	Gaa/Taa	0	.	.	.	.	.	A	E/*	protein_coding	YES	CCDS683.1	1132	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTCCTGTA	NONE	.	.	PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF99,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,SMART_domains:SM00322	.	.	ENSP00000359804	.	13/20	.	.	.	.	.	.	.	.	COSM1665478	13/20	PASS	ENST00000370768	Transcript	.	.	ENSG00000162613	4004	.	.	HIGH	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	FUBP1_HUMAN	FUBP1	HGNC	.	.	UPI0000070218	SNV	FUBP1,stop_gained,p.Glu399Ter,ENST00000436586,;FUBP1,stop_gained,p.Glu378Ter,ENST00000370767,;FUBP1,stop_gained,p.Glu378Ter,ENST00000370768,;FUBP1,downstream_gene_variant,,ENST00000421641,;FUBP1,upstream_gene_variant,,ENST00000470287,;FUBP1,stop_gained,p.Glu377Ter,ENST00000294623,;	1214	262	300	SUCCESS
MCOLN3	55283	.	GRCh37	1	85491786	85491786	+	splice_polypyrimidine_tract_variant,intron_variant	Intron	DEL	G	G	-	rs111585611	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	404	140	285	0	ENST00000370589.2:c.946-15del		p.*316*	ENST00000370589	NM_018298.10			0	A:0.0002	.	.	.	.	-	.	protein_coding	YES	CCDS701.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAAGAGGGGAG	NONE	byCluster	.	.	.	A:0.0003	ENSP00000359621	.	.	.	.	.	.	.	.	.	.	rs111585611	.	PASS	ENST00000370589	Transcript	.	.	ENSG00000055732	13358	.	.	MODIFIER	8/12	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MCLN3_HUMAN	MCOLN3	HGNC	.	.	UPI0000073A4B	deletion	MCOLN3,3_prime_UTR_variant,,ENST00000370587,;MCOLN3,intron_variant,,ENST00000341115,;WDR63,intron_variant,,ENST00000370596,;MCOLN3,intron_variant,,ENST00000370589,;MCOLN3,intron_variant,,ENST00000475312,;MCOLN3,upstream_gene_variant,,ENST00000474447,;MCOLN3,intron_variant,,ENST00000490600,;	.	285	544	SUCCESS
RBMXL1	494115	.	GRCh37	1	89449349	89449349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	63	160	1	ENST00000321792.5:c.161T>C	p.Val54Ala	p.V54A	ENST00000321792	NM_019610.5	54	gTc/gCc	0	.	.	.	.	.	G	V/A	protein_coding	YES	CCDS716.1	161	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTGACAAAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF303,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	.	.	ENSP00000446099	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399794	Transcript	.	.	ENSG00000213516	25073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.734)	.	deleterious(0)	.	RMXL1_HUMAN	RBMXL1	HGNC	Q2VIN3_HUMAN	.	UPI000006DA18	SNV	RBMXL1,missense_variant,p.Val54Ala,ENST00000321792,;RBMXL1,missense_variant,p.Val54Ala,ENST00000399794,;CCBL2,intron_variant,,ENST00000370485,;CCBL2,intron_variant,,ENST00000370486,;CCBL2,intron_variant,,ENST00000370491,;CCBL2,intron_variant,,ENST00000260508,;RBMXL1,non_coding_transcript_exon_variant,,ENST00000413769,;CCBL2,intron_variant,,ENST00000446900,;	877	161	190	SUCCESS
SLC44A3	126969	.	GRCh37	1	95360387	95360387	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	465	100	444	0	ENST00000271227.6:c.1871G>A	p.Arg624Lys	p.R624K	ENST00000271227	NM_001258340.1	624	aGg/aAg	0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS44176.1	1871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGGAGCA	NONE	.	.	hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13	.	.	ENSP00000271227	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000271227	Transcript	.	.	ENSG00000143036	28689	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.44)	.	CTL3_HUMAN	SLC44A3	HGNC	F8W7F3_HUMAN	.	UPI0000206066	SNV	SLC44A3,missense_variant,p.Arg556Lys,ENST00000527077,;SLC44A3,missense_variant,p.Arg80Lys,ENST00000532670,;SLC44A3,missense_variant,p.Arg588Lys,ENST00000446120,;SLC44A3,missense_variant,p.Arg624Lys,ENST00000271227,;SLC44A3,missense_variant,p.Arg591Lys,ENST00000529450,;SLC44A3,missense_variant,p.Arg544Lys,ENST00000532427,;SLC44A3,missense_variant,p.Arg576Lys,ENST00000467909,;CNN3,downstream_gene_variant,,ENST00000394202,;CNN3,downstream_gene_variant,,ENST00000415017,;CNN3,downstream_gene_variant,,ENST00000545882,;CNN3,downstream_gene_variant,,ENST00000370206,;CNN3,downstream_gene_variant,,ENST00000538964,;CNN3,downstream_gene_variant,,ENST00000487539,;SLC44A3,downstream_gene_variant,,ENST00000530397,;CNN3,downstream_gene_variant,,ENST00000461018,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;	1973	444	566	SUCCESS
SSTR4	6754	.	GRCh37	20	23017238	23017238	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	58	0	ENST00000255008.3:c.1118C>A	p.Pro373Gln	p.P373Q	ENST00000255008	NM_001052.2	373	cCa/cAa	0	.	.	.	.	.	A	P/Q	protein_coding	YES	CCDS42856.1	1118	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACCAGAAC	NONE	.	.	hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Prints_domain:PR00590	.	.	ENSP00000255008	.	1/1	.	.	.	.	.	.	.	.	COSM576977	1/1	PASS	ENST00000255008	Transcript	.	.	ENSG00000132671	11333	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.143)	.	tolerated(0.08)	1	SSR4_HUMAN	SSTR4	HGNC	.	.	UPI000013CE7A	SNV	SSTR4,missense_variant,p.Pro373Gln,ENST00000255008,;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	1182	58	61	SUCCESS
HSF2BP	11077	.	GRCh37	21	45078038	45078038	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	28	0	ENST00000291560.2:c.-61G>A		p.*21*	ENST00000291560	NM_007031.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13697.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCAGAAA	NONE	.	.	.	.	.	ENSP00000291560	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000291560	Transcript	.	.	ENSG00000160207	5226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSF2B_HUMAN	HSF2BP	HGNC	Q6IAT7_HUMAN,B4DX36_HUMAN	.	UPI000012C321	SNV	HSF2BP,5_prime_UTR_variant,,ENST00000443485,;HSF2BP,5_prime_UTR_variant,,ENST00000291560,;HSF2BP,upstream_gene_variant,,ENST00000542962,;RRP1B,upstream_gene_variant,,ENST00000340648,;	272	28	39	SUCCESS
CLDN5	7122	.	GRCh37	22	19511781	19511781	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	5	105	0	ENST00000406028.1:c.253G>A	p.Ala85Thr	p.A85T	ENST00000406028		85	Gcc/Acc	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS13763.2	253	MUTECT|MUSE	.	CATGGCTAGAG	NONE	.	.	.	.	.	ENSP00000385477	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000406028	Transcript	.	.	ENSG00000184113	2047	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious_low_confidence(0.01)	.	CLD5_HUMAN	CLDN5	HGNC	D3DX19_HUMAN	.	UPI0000207B80	SNV	CLDN5,missense_variant,p.Ala85Thr,ENST00000413119,;CLDN5,missense_variant,p.Ala85Thr,ENST00000406028,;CLDN5,missense_variant,p.Ala85Thr,ENST00000403084,;CDC45,downstream_gene_variant,,ENST00000407835,;CDC45,downstream_gene_variant,,ENST00000263201,;CDC45,downstream_gene_variant,,ENST00000404724,;CDC45,downstream_gene_variant,,ENST00000437685,;CDC45,downstream_gene_variant,,ENST00000493724,;	1314	105	134	SUCCESS
SMPD4P1	645280	.	GRCh37	22	20970714	20970714	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	17	0	ENST00000416717.1:n.671C>T		p.*224*	ENST00000416717				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAAGGGCAT	NONE	.	.	.	.	.	.	.	8/18	.	.	.	.	.	.	.	.	.	8/18	PASS	ENST00000416717	Transcript	.	.	ENSG00000223553	39673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SMPD4P1	HGNC	.	.	.	SNV	SMPD4P1,non_coding_transcript_exon_variant,,ENST00000443839,;SMPD4P1,non_coding_transcript_exon_variant,,ENST00000416717,;	671	17	18	SUCCESS
SEC14L2	23541	.	GRCh37	22	30803523	30803523	+	synonymous_variant	Silent	SNP	G	G	A	rs754799440	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	52	0	ENST00000312932.9:c.354G>A	p.Gln118=	p.Q118=	ENST00000312932	NM_012429.3	118	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS13876.1	354	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACAGGACCT	NONE	.	.	PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF64,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087	.	.	ENSP00000316203	.	5/12	.	.	.	.	.	.	.	.	rs754799440	5/12	PASS	ENST00000312932	Transcript	.	.	ENSG00000100003	10699	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S14L2_HUMAN	SEC14L2	HGNC	C9JZI9_HUMAN,B7Z3Z8_HUMAN	.	UPI0000135433	SNV	SEC14L2,synonymous_variant,p.%3D,ENST00000405717,;SEC14L2,synonymous_variant,p.%3D,ENST00000312932,;SEC14L2,synonymous_variant,p.%3D,ENST00000429917,;SEC14L2,synonymous_variant,p.%3D,ENST00000403484,;SEC14L2,synonymous_variant,p.%3D,ENST00000428195,;SEC14L2,intron_variant,,ENST00000402592,;RNF215,intron_variant,,ENST00000431544,;RP4-539M6.19,upstream_gene_variant,,ENST00000439023,;SEC14L2,downstream_gene_variant,,ENST00000415072,;RP4-539M6.19,upstream_gene_variant,,ENST00000439838,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000459728,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000416523,;SEC14L2,missense_variant,p.Arg82Lys,ENST00000437022,;SEC14L2,3_prime_UTR_variant,,ENST00000452649,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000467218,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000464335,;SEC14L2,upstream_gene_variant,,ENST00000478762,;SEC14L2,upstream_gene_variant,,ENST00000483116,;RP4-539M6.19,upstream_gene_variant,,ENST00000454552,;	614	52	84	SUCCESS
SLC5A4	6527	.	GRCh37	22	32627060	32627060	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	rs763489323	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	15	78	0	ENST00000266086.4:c.1024A>G	p.Met342Val	p.M342V	ENST00000266086	NM_014227.2	342	Atg/Gtg	0	.	.	.	.	.	C	M/V	protein_coding	YES	CCDS13903.1	1024	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCATATCTG	NONE	byFrequency	.	PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF112,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474	.	.	ENSP00000266086	.	10/15	.	.	.	.	.	.	.	.	rs763489323	10/15	PASS	ENST00000266086	Transcript	.	.	ENSG00000100191	11039	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.22)	.	SC5A4_HUMAN	SLC5A4	HGNC	C7EWH7_HUMAN	.	UPI00001359F4	SNV	SLC5A4,missense_variant,p.Met342Val,ENST00000266086,;RP1-90G24.10,intron_variant,,ENST00000434942,;	1036	78	94	SUCCESS
SREBF2	6721	.	GRCh37	22	42266958	42266958	+	synonymous_variant	Silent	SNP	C	C	T	rs1043490403	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	39	88	0	ENST00000361204.4:c.786C>T	p.Gly262=	p.G262=	ENST00000361204	NM_004599.3	262	ggC/ggT	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS14023.1	786	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGCAGCCC	NONE	.	.	hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565	.	.	ENSP00000354476	.	4/19	.	.	.	.	.	.	.	.	.	4/19	PASS	ENST00000361204	Transcript	.	.	ENSG00000198911	11290	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBP2_HUMAN	SREBF2	HGNC	Q8NCY3_HUMAN	.	UPI00001678D0	SNV	SREBF2,synonymous_variant,p.%3D,ENST00000361204,;SREBF2,synonymous_variant,p.%3D,ENST00000424354,;SREBF2,upstream_gene_variant,,ENST00000464119,;SREBF2,upstream_gene_variant,,ENST00000462539,;	952	88	103	SUCCESS
GREB1	9687	.	GRCh37	2	11735450	11735450	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	7	177	0	ENST00000234142.5:c.1770G>A	p.Glu590=	p.E590=	ENST00000234142		590	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS42655.1	1770	MUTECT|MUSE	.	TACGAGCTGGT	NONE	.	.	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	.	.	ENSP00000370896	.	12/33	.	.	.	.	.	.	.	.	.	12/33	PASS	ENST00000381486	Transcript	.	.	ENSG00000196208	24885	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GREB1_HUMAN	GREB1	HGNC	.	.	UPI0000163937	SNV	GREB1,synonymous_variant,p.%3D,ENST00000234142,;GREB1,synonymous_variant,p.%3D,ENST00000432985,;GREB1,synonymous_variant,p.%3D,ENST00000381486,;GREB1,downstream_gene_variant,,ENST00000381483,;	2070	177	185	SUCCESS
ACVR2A	92	.	GRCh37	2	148684705	148684706	+	inframe_insertion	In_Frame_Ins	INS	-	-	AGGTTA	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	25	39	142	0	ENST00000241416.7:c.1405_1410dup	p.Arg469_Leu470dup	p.R469_L470dup	ENST00000241416	NM_001616.4	469	-/AGGTTA	0	.	.	.	.	.	AGGTTA	-/RL	protein_coding	YES	CCDS33301.1	1404-1405	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGCCAGGTT	NONE	.	.	Prints_domain:PR00653,Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011	.	.	ENSP00000241416	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000241416	Transcript	.	.	ENSG00000121989	173	6	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AVR2A_HUMAN	ACVR2A	HGNC	B4DWQ2_HUMAN	.	UPI0000126673	insertion	ACVR2A,inframe_insertion,p.Arg469_Leu470dup,ENST00000241416,;ACVR2A,inframe_insertion,p.Arg469_Leu470dup,ENST00000404590,;ACVR2A,inframe_insertion,p.Arg361_Leu362dup,ENST00000535787,;ORC4,downstream_gene_variant,,ENST00000392857,;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	2040-2041	142	64	SUCCESS
NBAS	51594	.	GRCh37	2	15427254	15427254	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs757665960	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	70	107	0	ENST00000281513.5:c.5081G>A	p.Ser1694Asn	p.S1694N	ENST00000281513	NM_015909.3	1694	aGt/aAt	0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS1685.1	5081	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACACTGTAA	NONE	.	.	hmmpanther:PTHR15922:SF2,hmmpanther:PTHR15922	.	.	ENSP00000281513	.	42/52	.	.	.	.	.	.	.	.	rs757665960	42/52	PASS	ENST00000281513	Transcript	.	.	ENSG00000151779	15625	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.45)	.	NBAS_HUMAN	NBAS	HGNC	Q4ZG05_HUMAN,H7C007_HUMAN	.	UPI00001AEA68	SNV	NBAS,missense_variant,p.Ser1574Asn,ENST00000441750,;NBAS,missense_variant,p.Ser1694Asn,ENST00000281513,;NBAS,missense_variant,p.Ser742Asn,ENST00000442506,;	5107	107	139	SUCCESS
TTN	7273	.	GRCh37	2	179422457	179422457	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs772121356	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	46	109	0	ENST00000591111.1:c.82701C>A	p.Tyr27567Ter	p.Y27567*	ENST00000591111		27567	taC/taA	0	.	.	.	.	.	T	Y/*	protein_coding	YES	CCDS59435.1	87624	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGTATTC	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000467141	.	328/363	.	.	.	.	.	.	.	.	rs772121356	328/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,stop_gained,p.Tyr20268Ter,ENST00000359218,;TTN,stop_gained,p.Tyr27567Ter,ENST00000591111,;TTN,stop_gained,p.Tyr29208Ter,ENST00000589042,;TTN,stop_gained,p.Tyr20335Ter,ENST00000342175,;TTN,stop_gained,p.Tyr26640Ter,ENST00000342992,;TTN,stop_gained,p.Tyr20143Ter,ENST00000460472,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000590932,;	87849	109	64	SUCCESS
CHPF	79586	.	GRCh37	2	220404323	220404359	+	protein_altering_variant	In_Frame_Del	DEL	TCTCCAGCAGCTCCTCTTCTTGTTCTGAGGCTGCCGC	TCTCCAGCAGCTCCTCTTCTTGTTCTGAGGCTGCCGC	GCCT	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	TCTCCAGCAGCTCCTCTTCTTGTTCTGAGGCTGCCGC	TCTCCAGCAGCTCCTCTTCTTGTTCTGAGGCTGCCGC	.	.	.	.	.	.	.	.	.	.	.	.	.	177	35	172	0	ENST00000243776.6:c.2074_2110delinsAGGC	p.Ala692_Ser704delinsArgArg	p.A692_S704delinsRR	ENST00000243776	NM_024536.5	692	GCGGCAGCCTCAGAACAAGAAGAGGAGCTGCTGGAGAgc/AGGCgc	0	.	.	.	.	.	GCCT	AAASEQEEELLES/RR	protein_coding	YES	CCDS2443.1	2074-2110	INDELOCATOR*|PINDEL	.	CCAGGCTCTCCAGCAGCTCCTCTTCTTGTTCTGAGGCTGCCGCCAGGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12369:SF12,hmmpanther:PTHR12369,Pfam_domain:PF05679	.	.	ENSP00000243776	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243776	Transcript	.	.	ENSG00000123989	24291	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHSS2_HUMAN	CHPF	HGNC	.	.	UPI00001AE6D6	substitution	CHPF,protein_altering_variant,p.Ala692_Ser704delinsArgArg,ENST00000243776,;CHPF,protein_altering_variant,p.Ala530_Ser542delinsArgArg,ENST00000535926,;ASIC4,downstream_gene_variant,,ENST00000358078,;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000373883,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000347842,;ASIC4,downstream_gene_variant,,ENST00000474489,;	2323-2359	172	212	SUCCESS
EPHA4	2043	.	GRCh37	2	222321452	222321452	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	98	0	ENST00000281821.2:c.1484C>A	p.Ala495Asp	p.A495D	ENST00000281821	NM_004438.3	495	gCc/gAc	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS2447.1	1484	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGCAGCT	NONE	.	.	Prints_domain:PR00014,Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416:SF25,hmmpanther:PTHR24416,PROSITE_profiles:PS50853	.	.	ENSP00000281821	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000281821	Transcript	.	.	ENSG00000116106	3388	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.165)	.	tolerated(0.16)	.	EPHA4_HUMAN	EPHA4	HGNC	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN	.	UPI000012A077	SNV	EPHA4,missense_variant,p.Ala495Asp,ENST00000281821,;EPHA4,missense_variant,p.Ala495Asp,ENST00000409854,;EPHA4,missense_variant,p.Ala444Asp,ENST00000392071,;EPHA4,missense_variant,p.Ala495Asp,ENST00000409938,;EPHA4,downstream_gene_variant,,ENST00000441679,;EPHA4,downstream_gene_variant,,ENST00000443796,;	1526	98	122	SUCCESS
SNED1	25992	.	GRCh37	2	242007187	242007187	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	104	27	103	0	ENST00000310397.8:c.3019C>T	p.Pro1007Ser	p.P1007S	ENST00000310397	NM_001080437.1	1007	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46562.1	3019	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCCCTGTG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	.	.	ENSP00000308893	.	22/32	.	.	.	.	.	.	.	.	.	22/32	PASS	ENST00000310397	Transcript	.	.	ENSG00000162804	24696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.973)	.	deleterious(0.03)	.	SNED1_HUMAN	SNED1	HGNC	.	.	UPI0000DD7AB0	SNV	SNED1,missense_variant,p.Pro1007Ser,ENST00000342631,;SNED1,missense_variant,p.Pro1007Ser,ENST00000401884,;SNED1,missense_variant,p.Pro1007Ser,ENST00000405547,;SNED1,missense_variant,p.Pro1007Ser,ENST00000310397,;AC005237.4,upstream_gene_variant,,ENST00000458377,;MTERFD2,downstream_gene_variant,,ENST00000464344,;SNED1,non_coding_transcript_exon_variant,,ENST00000466618,;SNED1,upstream_gene_variant,,ENST00000491761,;	3019	103	131	SUCCESS
PLB1	151056	.	GRCh37	2	28761188	28761188	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	38	0	ENST00000327757.5:c.558T>C		p.X186_splice	ENST00000327757	NM_153021.4	186	aaT/aaC	0	.	.	.	.	.	C	N	protein_coding	YES	CCDS33168.1	558	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGAATGGGCT	NONE	.	.	hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1	.	.	ENSP00000330442	.	10/58	.	.	.	.	.	.	.	.	.	10/58	PASS	ENST00000327757	Transcript	.	.	ENSG00000163803	30041	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLB1_HUMAN	PLB1	HGNC	.	.	UPI0000D6117C	SNV	PLB1,synonymous_variant,p.%3D,ENST00000416713,;PLB1,synonymous_variant,p.%3D,ENST00000327757,;PLB1,synonymous_variant,p.%3D,ENST00000422425,;PLB1,synonymous_variant,p.%3D,ENST00000404858,;	602	38	38	SUCCESS
PLEKHH2	130271	.	GRCh37	2	43927267	43927267	+	synonymous_variant	Silent	SNP	T	T	C	rs761663737	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	72	134	0	ENST00000282406.4:c.1170T>C	p.Phe390=	p.F390=	ENST00000282406	NM_172069.3	390	ttT/ttC	0	.	.	.	.	.	C	F	protein_coding	YES	CCDS1812.1	1170	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTTCAATC	NONE	.	.	hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3	.	.	ENSP00000282406	.	8/30	.	.	.	.	.	.	.	.	rs761663737,COSM1021026	8/30	PASS	ENST00000282406	Transcript	.	.	ENSG00000152527	30506	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	PKHH2_HUMAN	PLEKHH2	HGNC	.	.	UPI000016021B	SNV	PLEKHH2,synonymous_variant,p.%3D,ENST00000282406,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;PLEKHH2,downstream_gene_variant,,ENST00000460356,;PLEKHH2,downstream_gene_variant,,ENST00000491692,;	1280	134	167	SUCCESS
PLEK	5341	.	GRCh37	2	68622843	68622843	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	48	159	0	ENST00000234313.7:c.948G>A	p.Glu316=	p.E316=	ENST00000234313	NM_002664.2	316	gaG/gaA	0	.	.	.	.	.	A	E	protein_coding	YES	CCDS1887.1	948	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGAGATCAT	NONE	.	.	PROSITE_profiles:PS50003,hmmpanther:PTHR12092:SF1,hmmpanther:PTHR12092,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	.	.	ENSP00000234313	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000234313	Transcript	.	.	ENSG00000115956	9070	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLEK_HUMAN	PLEK	HGNC	.	.	UPI00002085C1	SNV	PLEK,synonymous_variant,p.%3D,ENST00000234313,;PLEK,non_coding_transcript_exon_variant,,ENST00000474788,;	1127	159	227	SUCCESS
ATP6V1B1	525	.	GRCh37	2	71190004	71190004	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	43	0	ENST00000234396.4:c.883A>C	p.Ser295Arg	p.S295R	ENST00000234396	NM_001692.3	295	Agt/Cgt	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS1912.1	883	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGAGTTCC	NONE	.	.	HAMAP:MF_00310,hmmpanther:PTHR15184:SF29,hmmpanther:PTHR15184,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01040,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000234396	.	9/14	.	.	.	.	.	.	.	.	.	9/14	PASS	ENST00000234396	Transcript	.	.	ENSG00000116039	853	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.978)	.	deleterious(0)	.	VATB1_HUMAN	ATP6V1B1	HGNC	Q71UA2_HUMAN,C9JZ02_HUMAN,C9JTN0_HUMAN,B4DWH7_HUMAN	.	UPI000013C9A0	SNV	ATP6V1B1,missense_variant,p.Ser295Arg,ENST00000234396,;ATP6V1B1,missense_variant,p.Ser295Arg,ENST00000412314,;AC007040.11,intron_variant,,ENST00000606025,;ATP6V1B1,upstream_gene_variant,,ENST00000433895,;ATP6V1B1,downstream_gene_variant,,ENST00000454446,;ATP6V1B1,downstream_gene_variant,,ENST00000432098,;RN7SL160P,upstream_gene_variant,,ENST00000468558,;ATP6V1B1,3_prime_UTR_variant,,ENST00000432367,;AC007040.11,intron_variant,,ENST00000453130,;ATP6V1B1,downstream_gene_variant,,ENST00000463380,;ATP6V1B1,downstream_gene_variant,,ENST00000495118,;	956	43	57	SUCCESS
BBX	56987	.	GRCh37	3	107492029	107492029	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	266	80	359	0	ENST00000325805.8:c.1461A>T	p.Ile487=	p.I487=	ENST00000325805		487	atA/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS46881.1	1461	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATATATAC	NONE	.	.	hmmpanther:PTHR13059	.	.	ENSP00000319974	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000325805	Transcript	.	.	ENSG00000114439	14422	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBX_HUMAN	BBX	HGNC	Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN	.	UPI000007315E	SNV	BBX,synonymous_variant,p.%3D,ENST00000415149,;BBX,synonymous_variant,p.%3D,ENST00000402543,;BBX,synonymous_variant,p.%3D,ENST00000406780,;BBX,synonymous_variant,p.%3D,ENST00000325805,;BBX,intron_variant,,ENST00000416476,;BBX,downstream_gene_variant,,ENST00000402163,;BBX,upstream_gene_variant,,ENST00000473542,;BBX,downstream_gene_variant,,ENST00000472032,;BBX,downstream_gene_variant,,ENST00000485939,;	1748	359	346	SUCCESS
MYH15	22989	.	GRCh37	3	108133217	108133217	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1456283634	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	49	0	ENST00000273353.3:c.4067G>A	p.Arg1356Gln	p.R1356Q	ENST00000273353	NM_014981.1	1356	cGa/cAa	0	.	.	.	.	.	T	R/Q	protein_coding	YES	CCDS43127.1	4067	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTCGTAGA	NONE	.	.	Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140:SF263,hmmpanther:PTHR13140,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000273353	.	31/42	.	.	.	.	.	.	.	.	.	31/42	PASS	ENST00000273353	Transcript	.	.	ENSG00000144821	31073	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	deleterious(0.03)	.	MYH15_HUMAN	MYH15	HGNC	H9XFA0_HUMAN	.	UPI0000253B6F	SNV	MYH15,missense_variant,p.Arg1356Gln,ENST00000273353,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	4124	49	50	SUCCESS
HPS3	84343	.	GRCh37	3	148884845	148884845	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	75	0	ENST00000296051.2:c.2614G>C	p.Asp872His	p.D872H	ENST00000296051	NM_032383.3	872	Gac/Cac	0	.	.	.	.	.	C	D/H	protein_coding	YES	CCDS3140.1	2614	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGACATA	NONE	.	.	Pfam_domain:PF14763,PIRSF_domain:PIRSF037473	.	.	ENSP00000296051	.	15/17	.	.	.	.	.	.	.	.	.	15/17	PASS	ENST00000296051	Transcript	.	.	ENSG00000163755	15597	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.01)	.	HPS3_HUMAN	HPS3	HGNC	Q8N3N1_HUMAN	.	UPI000000D989	SNV	HPS3,missense_variant,p.Asp872His,ENST00000296051,;HPS3,missense_variant,p.Asp707His,ENST00000460120,;CP,intron_variant,,ENST00000479771,;HPS3,splice_region_variant,,ENST00000460822,;CP,intron_variant,,ENST00000481169,;HPS3,upstream_gene_variant,,ENST00000478525,;	2754	75	47	SUCCESS
KCNAB1	7881	.	GRCh37	3	156170702	156170702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	53	109	0	ENST00000490337.1:c.334T>C	p.Phe112Leu	p.F112L	ENST00000490337	NM_172160.2	112	Ttt/Ctt	0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS3174.1	334	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACATTTGGA	NONE	.	.	hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF127,TIGRFAM_domain:TIGR01293,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430	.	.	ENSP00000419952	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000490337	Transcript	.	.	ENSG00000169282	6228	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.986)	.	tolerated(0.09)	.	KCAB1_HUMAN	KCNAB1	HGNC	B7Z435_HUMAN	.	UPI000012E169	SNV	KCNAB1,missense_variant,p.Phe101Leu,ENST00000471742,;KCNAB1,missense_variant,p.Phe112Leu,ENST00000490337,;KCNAB1,missense_variant,p.Phe30Leu,ENST00000472028,;KCNAB1,missense_variant,p.Phe112Leu,ENST00000389636,;KCNAB1,missense_variant,p.Phe55Leu,ENST00000475456,;KCNAB1,missense_variant,p.Phe94Leu,ENST00000389634,;KCNAB1,missense_variant,p.Phe94Leu,ENST00000302490,;KCNAB1,non_coding_transcript_exon_variant,,ENST00000477912,;KCNAB1,upstream_gene_variant,,ENST00000497291,;KCNAB1,upstream_gene_variant,,ENST00000461717,;KCNAB1,upstream_gene_variant,,ENST00000476362,;KCNAB1,upstream_gene_variant,,ENST00000496923,;KCNAB1,missense_variant,p.Ile75Thr,ENST00000489036,;KCNAB1,non_coding_transcript_exon_variant,,ENST00000478609,;	398	109	93	SUCCESS
MECOM	2122	.	GRCh37	3	169099207	169099207	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	41	70	0	ENST00000486748.1:c.215C>A	p.Ser72Tyr	p.S72Y	ENST00000486748		72	tCt/tAt	0	.	.	.	.	.	T	S/Y	protein_coding	.	.	215	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGAGCAT	NONE	.	.	hmmpanther:PTHR21652,hmmpanther:PTHR21652:SF1	.	.	ENSP00000419537	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000486748	Transcript	.	.	ENSG00000085276	3498	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	MECOM	HGNC	C9JU02_HUMAN	.	UPI0001B797A5	SNV	MECOM,missense_variant,p.Ser72Tyr,ENST00000486748,;MECOM,missense_variant,p.Ser48Tyr,ENST00000494292,;MECOM,non_coding_transcript_exon_variant,,ENST00000485957,;	233	70	80	SUCCESS
GPR160	26996	.	GRCh37	3	169802764	169802764	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs1419635274	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	59	187	0	ENST00000355897.5:c.1004T>C	p.Ile335Thr	p.I335T	ENST00000355897	NM_014373.2	335	aTa/aCa	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS3211.1	1004	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATAATGA	NONE	.	.	hmmpanther:PTHR15573	.	.	ENSP00000348161	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000355897	Transcript	.	.	ENSG00000173890	23693	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.322)	.	deleterious(0)	.	GP160_HUMAN	GPR160	HGNC	C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN	.	UPI0000033731	SNV	GPR160,missense_variant,p.Ile335Thr,ENST00000355897,;GPR160,downstream_gene_variant,,ENST00000473675,;PHC3,downstream_gene_variant,,ENST00000484068,;GPR160,downstream_gene_variant,,ENST00000482710,;GPR160,downstream_gene_variant,,ENST00000492492,;GPR160,downstream_gene_variant,,ENST00000485735,;PHC3,downstream_gene_variant,,ENST00000495893,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;	1612	187	204	SUCCESS
PIK3CA	5290	.	GRCh37	3	178936092	178936092	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs121913274	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	195	187	430	0	ENST00000263967.3:c.1634A>C	p.Glu545Ala	p.E545A	ENST00000263967	NM_006218.2	545	gAg/gCg	0	.	.	.	.	.	C	E/A	protein_coding	YES	CCDS43171.1	1634	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	pathogenic	CACTGAGCAGG	SITE|p.E545A|c.1634A>C|130,SITE|p.E545A|c.1634A>C|11,CODON|p.E545Q|c.1633G>C|30,CODON|p.E545K|c.1633G>A|227,CODON|p.E545Q|c.1633G>C|9,CODON|p.E545K|c.1633G>A|1153,CODON|p.E545V|c.1634A>T|4,CODON|p.E545G|c.1634A>G|14,CODON|p.E545G|c.1634A>G|90,BUFFER|p.E542Q|c.1624G>C|8,BUFFER|p.E542K|c.1624G>A|115,BUFFER|p.E542K|c.1624G>A|758,BUFFER|p.E542G|c.1625A>G|3,BUFFER|p.E542V|c.1625A>T|14,BUFFER|p.E542A|c.1625A>C|3,BUFFER|p.E542V|c.1625A>T|5,BUFFER|p.E542A|c.1625A>C|3,BUFFER|p.I543V|c.1627A>G|3,BUFFER|p.T544N|c.1631C>A|3,BUFFER|p.E545D|c.1635G>T|13,BUFFER|p.E545D|c.1635G>C|11,BUFFER|p.E545D|c.1635G>T|4,BUFFER|p.Q546K|c.1636C>A|119,BUFFER|p.Q546E|c.1636C>G|15,BUFFER|p.Q546K|c.1636C>A|18,BUFFER|p.Q546R|c.1637A>G|20,BUFFER|p.Q546P|c.1637A>C|22,BUFFER|p.Q546P|c.1637A>C|7,BUFFER|p.Q546L|c.1637A>T|8,BUFFER|p.Q546R|c.1637A>G|41,BUFFER|p.Q546H|c.1638G>T|7,BUFFER|p.E547K|c.1639G>A|11,BUFFER|p.E547G|c.1640A>G|5,BUFFER|p.E547G|c.1640A>G|5	byCluster	.	PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	.	.	ENSP00000263967	.	10/21	.	.	.	.	.	.	.	.	rs121913274,COSM764,COSM12458,COSM27155,COSM125371,COSM297145	10/21	PASS	ENST00000263967	Transcript	.	.	ENSG00000121879	8975	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1,1,1,1	.	.	probably_damaging(0.965)	.	deleterious(0.02)	0,1,1,1,1,1	PK3CA_HUMAN	PIK3CA	HGNC	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN	.	UPI000013D494	SNV	PIK3CA,missense_variant,p.Glu545Ala,ENST00000263967,;PIK3CA,upstream_gene_variant,,ENST00000462255,;	1791	430	382	SUCCESS
ITPR1	3708	.	GRCh37	3	4735250	4735250	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1461379244	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	62	99	1	ENST00000354582.6:c.4106G>A	p.Arg1369Gln	p.R1369Q	ENST00000354582		1369	cGg/cAg	0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS54551.1	4061	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCGGTCAG	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715	.	.	ENSP00000306253	.	32/61	.	.	.	.	.	.	.	.	.	32/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.015)	.	tolerated(0.52)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Arg1354Gln,ENST00000443694,;ITPR1,missense_variant,p.Arg1369Gln,ENST00000354582,;ITPR1,missense_variant,p.Arg1360Gln,ENST00000423119,;ITPR1,missense_variant,p.Arg1345Gln,ENST00000456211,;ITPR1,missense_variant,p.Arg1360Gln,ENST00000357086,;ITPR1,missense_variant,p.Arg1354Gln,ENST00000302640,;ITPR1,intron_variant,,ENST00000544951,;	4411	100	103	SUCCESS
SFMBT1	51460	.	GRCh37	3	52966136	52966137	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	39	81	0	ENST00000394752.3:c.641dup	p.Phe215IlefsTer14	p.F215Ifs*14	ENST00000394752	NM_016329.3	214	cca/ccCa	0	.	.	.	.	.	G	P/PX	protein_coding	YES	CCDS2867.1	641-642	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAATGGATC	NONE	.	.	PROSITE_profiles:PS51079,hmmpanther:PTHR12247:SF77,hmmpanther:PTHR12247,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748	.	.	ENSP00000378235	.	6/21	.	.	.	.	.	.	.	.	.	6/21	PASS	ENST00000394752	Transcript	.	.	ENSG00000163935	20255	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMBT1_HUMAN	SFMBT1	HGNC	C9JWI3_HUMAN,C9IZZ5_HUMAN,C9IY64_HUMAN	.	UPI0000070BC6	insertion	SFMBT1,frameshift_variant,p.Phe215IlefsTer14,ENST00000394750,;SFMBT1,frameshift_variant,p.Phe215IlefsTer14,ENST00000358080,;SFMBT1,frameshift_variant,p.Phe215IlefsTer14,ENST00000394752,;SFMBT1,frameshift_variant,p.Phe215IlefsTer14,ENST00000296295,;SFMBT1,upstream_gene_variant,,ENST00000492146,;	1024-1025	81	122	SUCCESS
TET2	54790	.	GRCh37	4	106162812	106162812	+	intron_variant	Intron	SNP	G	G	A	rs1007170885	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	41	82	0	ENST00000380013.4:c.3500+226G>A		p.*1167*	ENST00000380013	NM_001127208.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGCGATGGA	NONE	.	.	.	.	.	ENSP00000442788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540549	Transcript	1	.	ENSG00000168769	25941	.	.	MODIFIER	4/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TET2_HUMAN	TET2	HGNC	E7EPB1_HUMAN,D6RE87_HUMAN	.	UPI00001D75E4	SNV	TET2,3_prime_UTR_variant,,ENST00000305737,;TET2,3_prime_UTR_variant,,ENST00000413648,;TET2,3_prime_UTR_variant,,ENST00000394764,;TET2,intron_variant,,ENST00000540549,;TET2,intron_variant,,ENST00000513237,;TET2,intron_variant,,ENST00000380013,;TET2,intron_variant,,ENST00000545826,;TET2,intron_variant,,ENST00000265149,;	.	82	77	SUCCESS
BOD1L1	259282	.	GRCh37	4	13589344	13589344	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	249	93	409	1	ENST00000040738.5:c.8332C>T	p.Leu2778Phe	p.L2778F	ENST00000040738	NM_148894.2	2778	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS3411.2	8332	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGATAAT	NONE	.	.	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	.	.	ENSP00000040738	.	16/26	.	.	.	.	.	.	.	.	.	16/26	PASS	ENST00000040738	Transcript	.	.	ENSG00000038219	31792	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.248)	.	.	.	BD1L1_HUMAN	BOD1L1	HGNC	.	.	UPI000066D9E3	SNV	BOD1L1,missense_variant,p.Leu2778Phe,ENST00000040738,;BOD1L1,non_coding_transcript_exon_variant,,ENST00000511119,;	8468	410	342	SUCCESS
FBXW7	55294	.	GRCh37	4	153245454	153245454	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	27	140	0	ENST00000281708.4:c.1737G>A	p.Gly579=	p.G579=	ENST00000281708	NM_033632.3	579	ggG/ggA	0	.	.	.	.	.	T	G	protein_coding	YES	CCDS3777.1	1737	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGCCCTGT	BUFFER|p.S343L|c.1028C>T|6,BUFFER|p.S502L|c.1505C>T|6,BUFFER|p.S582L|c.1745C>T|6,BUFFER|p.S582L|c.1745C>T|17,BUFFER|p.S464L|c.1391C>T|4	.	.	Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF116,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	.	.	ENSP00000281708	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,synonymous_variant,p.%3D,ENST00000603548,;FBXW7,synonymous_variant,p.%3D,ENST00000263981,;FBXW7,synonymous_variant,p.%3D,ENST00000296555,;FBXW7,synonymous_variant,p.%3D,ENST00000393956,;FBXW7,synonymous_variant,p.%3D,ENST00000281708,;FBXW7,synonymous_variant,p.%3D,ENST00000603841,;RP11-461L13.3,upstream_gene_variant,,ENST00000603766,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604316,;FBXW7,non_coding_transcript_exon_variant,,ENST00000603821,;FBXW7,downstream_gene_variant,,ENST00000604069,;	2967	140	146	SUCCESS
KLF3	51274	.	GRCh37	4	38691609	38691609	+	intron_variant	Intron	SNP	G	G	A	rs532431077	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	26	0	ENST00000261438.5:c.695+109G>A		p.*232*	ENST00000261438	NM_016531.5			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS3444.1	.	MUTECT|MUSE	.	GGAACGGCTTG	NONE	by1000G	.	.	A:0	.	ENSP00000261438	A:0	.	.	.	.	.	.	.	.	.	rs532431077	.	PASS	ENST00000261438	Transcript	.	A:0.0002	ENSG00000109787	16516	.	.	MODIFIER	4/5	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	KLF3_HUMAN	KLF3	HGNC	.	.	UPI000012DED5	SNV	KLF3,3_prime_UTR_variant,,ENST00000514033,;KLF3,intron_variant,,ENST00000261438,;	.	26	20	SUCCESS
CCSER1	401145	.	GRCh37	4	91701657	91701657	+	intron_variant	Intron	SNP	C	C	A	rs549878868	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	71	0	ENST00000509176.1:c.2011-35256C>A		p.*671*	ENST00000509176	NM_001145065.1			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS47099.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCCTAGA	NONE	by1000G	.	.	A:0.001	.	ENSP00000425040	A:0	.	.	.	.	.	.	.	.	.	rs549878868	.	PASS	ENST00000509176	Transcript	.	A:0.0002	ENSG00000184305	29349	.	.	MODIFIER	7/10	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,3_prime_UTR_variant,,ENST00000432775,;CCSER1,intron_variant,,ENST00000509176,;CCSER1,intron_variant,,ENST00000503421,;CCSER1,intron_variant,,ENST00000333691,;CCSER1,non_coding_transcript_exon_variant,,ENST00000504150,;CCSER1,3_prime_UTR_variant,,ENST00000510519,;CCSER1,intron_variant,,ENST00000505073,;CCSER1,intron_variant,,ENST00000513522,;CCSER1,intron_variant,,ENST00000509109,;	.	71	72	SUCCESS
PAM	5066	.	GRCh37	5	102326066	102326066	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	83	117	0	ENST00000438793.3:c.1574T>C	p.Leu525Pro	p.L525P	ENST00000438793	NM_001177306.1	525	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS43348.1	1574	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACCTGGTGA	NONE	.	.	PROSITE_profiles:PS51125,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13,Gene3D:2.120.10.30,Superfamily_domains:SSF101898,Prints_domain:PR00790	.	.	ENSP00000306100	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000304400	Transcript	.	.	ENSG00000145730	8596	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	AMD_HUMAN	PAM	HGNC	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN	.	UPI000015618B	SNV	PAM,missense_variant,p.Leu298Pro,ENST00000379799,;PAM,missense_variant,p.Leu418Pro,ENST00000348126,;PAM,missense_variant,p.Leu525Pro,ENST00000304400,;PAM,missense_variant,p.Leu525Pro,ENST00000346918,;PAM,missense_variant,p.Leu525Pro,ENST00000438793,;PAM,missense_variant,p.Leu428Pro,ENST00000274392,;PAM,missense_variant,p.Leu525Pro,ENST00000455264,;PAM,5_prime_UTR_variant,,ENST00000379787,;PAM,3_prime_UTR_variant,,ENST00000345721,;PAM,non_coding_transcript_exon_variant,,ENST00000511429,;	1760	117	173	SUCCESS
FTMT	94033	.	GRCh37	5	121187669	121187669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	32	0	ENST00000321339.1:c.11G>A	p.Cys4Tyr	p.C4Y	ENST00000321339	NM_177478.1	4	tGc/tAc	0	.	.	.	.	.	A	C/Y	protein_coding	YES	CCDS4128.1	11	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGCTTCA	NONE	.	.	.	.	.	ENSP00000313691	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321339	Transcript	.	.	ENSG00000181867	17345	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.14)	.	FTMT_HUMAN	FTMT	HGNC	.	.	UPI000006F87E	SNV	FTMT,missense_variant,p.Cys4Tyr,ENST00000321339,;	20	32	31	SUCCESS
DNAH5	1767	.	GRCh37	5	13701461	13701461	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	259	101	256	1	ENST00000265104.4:c.13423G>A	p.Gly4475Ser	p.G4475S	ENST00000265104	NM_001369.2	4475	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS3882.1	13423	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGGCCATTGA	NONE	.	.	Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	.	.	ENSP00000265104	.	77/79	.	.	.	.	.	.	.	.	.	77/79	PASS	ENST00000265104	Transcript	1	.	ENSG00000039139	2950	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	.	.	DYH5_HUMAN	DNAH5	HGNC	O95496_HUMAN	.	UPI0000110101	SNV	DNAH5,missense_variant,p.Gly4475Ser,ENST00000265104,;	13528	257	361	SUCCESS
PCDHB14	56122	.	GRCh37	5	140604578	140604578	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs782732320	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	48	83	0	ENST00000239449.4:c.1501G>A	p.Ala501Thr	p.A501T	ENST00000239449	NM_018934.2	501	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS4256.1	1501	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGCCTCC	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239449	.	1/1	.	.	.	.	.	.	.	.	rs782732320	1/1	PASS	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.11)	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	SNV	PCDHB14,missense_variant,p.Ala501Thr,ENST00000239449,;PCDHB14,missense_variant,p.Ala348Thr,ENST00000515856,;	1501	83	148	SUCCESS
PCDHB14	56122	.	GRCh37	5	140604579	140604579	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs781793575	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	49	83	0	ENST00000239449.4:c.1502C>A	p.Ala501Asp	p.A501D	ENST00000239449	NM_018934.2	501	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS4256.1	1502	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCGCCTCCT	NONE	.	.	PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	.	.	ENSP00000239449	.	1/1	.	.	.	.	.	.	.	.	rs781793575	1/1	PASS	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.049)	.	tolerated_low_confidence(0.07)	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	SNV	PCDHB14,missense_variant,p.Ala501Asp,ENST00000239449,;PCDHB14,missense_variant,p.Ala348Asp,ENST00000515856,;	1502	83	149	SUCCESS
PCDHGB4	8641	.	GRCh37	5	140769171	140769171	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	31	58	0	ENST00000519479.1:c.1720G>A	p.Asp574Asn	p.D574N	ENST00000519479	NM_003736.2	574	Gat/Aat	0	.	.	.	.	.	A	D/N	protein_coding	YES	CCDS54928.1	1720	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCGATATG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,Superfamily_domains:SSF49313	.	.	ENSP00000428288	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000519479	Transcript	.	.	ENSG00000253953	8711	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.576)	.	deleterious(0)	.	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UKW1_HUMAN,Q9BT64_HUMAN	.	UPI000006F773	SNV	PCDHGB4,missense_variant,p.Asp574Asn,ENST00000519479,;PCDHGA3,intron_variant,,ENST00000253812,;PCDHGA1,intron_variant,,ENST00000517417,;PCDHGA7,intron_variant,,ENST00000518325,;PCDHGB3,intron_variant,,ENST00000576222,;PCDHGB1,intron_variant,,ENST00000523390,;PCDHGA5,intron_variant,,ENST00000518069,;PCDHGA4,intron_variant,,ENST00000571252,;PCDHGA2,intron_variant,,ENST00000394576,;PCDHGA6,intron_variant,,ENST00000517434,;PCDHGB2,intron_variant,,ENST00000522605,;PCDHGA8,upstream_gene_variant,,ENST00000398604,;	1720	58	102	SUCCESS
IL12B	3593	.	GRCh37	5	158750101	158750101	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1395936414	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	61	104	0	ENST00000231228.2:c.325G>A	p.Asp109Asn	p.D109N	ENST00000231228	NM_002187.2	109	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS4346.1	325	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATCTTCCT	NONE	.	.	PIRSF_domain:PIRSF038007,hmmpanther:PTHR11321	.	.	ENSP00000231228	.	3/8	.	.	.	.	.	.	.	.	.	3/8	PASS	ENST00000231228	Transcript	1	.	ENSG00000113302	5970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.82)	.	IL12B_HUMAN	IL12B	HGNC	Q8N0X8_HUMAN,A1Z2L5_HUMAN	.	UPI00000358B7	SNV	IL12B,missense_variant,p.Asp109Asn,ENST00000231228,;AC008697.1,intron_variant,,ENST00000521472,;RNU4ATAC2P,downstream_gene_variant,,ENST00000408674,;	781	104	173	SUCCESS
IL12B	3593	.	GRCh37	5	158750231	158750231	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs768578364	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	38	100	0	ENST00000231228.2:c.195C>G	p.Ser65Arg	p.S65R	ENST00000231228	NM_002187.2	65	agC/agG	0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS4346.1	195	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTGCTCTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,PIRSF_domain:PIRSF038007,Gene3D:2.60.40.10,hmmpanther:PTHR11321,PROSITE_profiles:PS50835	.	.	ENSP00000231228	.	3/8	.	.	.	.	.	.	.	.	rs768578364	3/8	PASS	ENST00000231228	Transcript	1	.	ENSG00000113302	5970	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.21)	.	IL12B_HUMAN	IL12B	HGNC	Q8N0X8_HUMAN,A1Z2L5_HUMAN	.	UPI00000358B7	SNV	IL12B,missense_variant,p.Ser65Arg,ENST00000231228,;AC008697.1,intron_variant,,ENST00000521472,;	651	100	144	SUCCESS
PRELID1	27166	.	GRCh37	5	176732966	176732966	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	47	0	ENST00000303204.4:c.413G>C	p.Gly138Ala	p.G138A	ENST00000303204	NM_013237.3	138	gGt/gCt	0	.	.	.	.	.	C	G/A	protein_coding	YES	CCDS4415.1	413	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGTGTCT	NONE	.	.	Pfam_domain:PF04707,hmmpanther:PTHR11158:SF21,hmmpanther:PTHR11158,PROSITE_profiles:PS50904	.	.	ENSP00000302114	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000303204	Transcript	.	.	ENSG00000169230	30255	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.865)	.	deleterious(0)	.	PRLD1_HUMAN	PRELID1	HGNC	.	.	UPI0000070DF2	SNV	PRELID1,missense_variant,p.Gly138Ala,ENST00000303204,;PRELID1,missense_variant,p.Gly87Ala,ENST00000503853,;PRELID1,missense_variant,p.Gly138Ala,ENST00000503216,;MXD3,3_prime_UTR_variant,,ENST00000427908,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000423571,;MXD3,downstream_gene_variant,,ENST00000513169,;RAB24,upstream_gene_variant,,ENST00000504395,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;PRELID1,3_prime_UTR_variant,,ENST00000510797,;PRELID1,3_prime_UTR_variant,,ENST00000504594,;PRELID1,non_coding_transcript_exon_variant,,ENST00000511309,;PRELID1,non_coding_transcript_exon_variant,,ENST00000510701,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;MXD3,downstream_gene_variant,,ENST00000503782,;RAB24,upstream_gene_variant,,ENST00000512758,;RAB24,upstream_gene_variant,,ENST00000495458,;	625	47	82	SUCCESS
PDZD2	23037	.	GRCh37	5	31799220	31799220	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	8	0	ENST00000438447.1:c.-136A>G		p.*46*	ENST00000438447				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34137.1	.	MUTECT|MUSE	.	TCCCTAGGCTC	NONE	.	.	.	.	.	ENSP00000402033	.	2/25	.	.	.	.	.	.	.	.	.	2/25	PASS	ENST00000438447	Transcript	.	.	ENSG00000133401	18486	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDZD2_HUMAN	PDZD2	HGNC	B4DGS3_HUMAN	.	UPI000069648B	SNV	PDZD2,5_prime_UTR_variant,,ENST00000438447,;PDZD2,5_prime_UTR_variant,,ENST00000282493,;PDZD2,5_prime_UTR_variant,,ENST00000513910,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502824,;	253	8	17	SUCCESS
RXFP3	51289	.	GRCh37	5	33937613	33937613	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	40	99	0	ENST00000330120.3:c.770del	p.Gly257AlafsTer52	p.G257Afs*52	ENST00000330120	NM_016568.3	256	ctG/ct	0	.	.	.	.	.	-	L/X	protein_coding	YES	CCDS3900.1	768	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGCTGGGCCG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF48,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	.	.	ENSP00000328708	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330120	Transcript	.	.	ENSG00000182631	24883	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RL3R1_HUMAN	RXFP3	HGNC	.	.	UPI0000046AEB	deletion	RXFP3,frameshift_variant,p.Gly257AlafsTer52,ENST00000330120,;	1123	99	150	SUCCESS
GPR98	0	.	GRCh37	5	90074291	90074291	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	83	117	0	ENST00000405460.2:c.12714G>A	p.Gln4238=	p.Q4238=	ENST00000405460	NM_032119.3	4238	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS47246.1	12714	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGCTCAC	NONE	.	.	Superfamily_domains:SSF141072,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	.	.	ENSP00000384582	.	63/90	.	.	.	.	.	.	.	.	.	63/90	PASS	ENST00000405460	Transcript	1	.	ENSG00000164199	17416	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR98_HUMAN	GPR98	HGNC	.	.	UPI00002127A7	SNV	GPR98,synonymous_variant,p.%3D,ENST00000405460,;GPR98,upstream_gene_variant,,ENST00000425867,;	12810	117	160	SUCCESS
SYNE1	23345	.	GRCh37	6	152560752	152560752	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	53	101	0	ENST00000367255.5:c.19983G>C	p.Gln6661His	p.Q6661H	ENST00000367255	NM_182961.3	6661	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS5236.2	19983	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAACTGGGT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	.	.	ENSP00000356224	.	108/146	.	.	.	.	.	.	.	.	.	108/146	PASS	ENST00000367255	Transcript	.	.	ENSG00000131018	17089	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.289)	.	.	.	SYNE1_HUMAN	SYNE1	HGNC	.	.	UPI000204AF58	SNV	SYNE1,missense_variant,p.Gln1185His,ENST00000356820,;SYNE1,missense_variant,p.Gln6590His,ENST00000448038,;SYNE1,missense_variant,p.Gln6661His,ENST00000367255,;SYNE1,missense_variant,p.Gln6590His,ENST00000423061,;SYNE1,missense_variant,p.Gln6273His,ENST00000341594,;SYNE1,missense_variant,p.Gln6661His,ENST00000265368,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	20585	101	103	SUCCESS
SLC22A3	6581	.	GRCh37	6	160819023	160819023	+	missense_variant	Missense_Mutation	SNP	T	T	A	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	17	64	0	ENST00000275300.2:c.442T>A	p.Cys148Ser	p.C148S	ENST00000275300	NM_021977.3	148	Tgt/Agt	0	.	.	.	.	.	A	C/S	protein_coding	YES	CCDS5277.1	442	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTCTGTGTC	NONE	.	.	TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF52,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	.	.	ENSP00000275300	.	2/11	.	.	.	.	.	.	.	.	COSM1226057	2/11	PASS	ENST00000275300	Transcript	.	.	ENSG00000146477	10967	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.997)	.	deleterious(0)	1	S22A3_HUMAN	SLC22A3	HGNC	Q9NQC0_HUMAN	.	UPI0000130BB7	SNV	SLC22A3,missense_variant,p.Cys148Ser,ENST00000392145,;SLC22A3,missense_variant,p.Cys148Ser,ENST00000275300,;	594	64	65	SUCCESS
SKIV2L	6499	.	GRCh37	6	31927840	31927840	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	29	78	0	ENST00000375394.2:c.180G>A	p.Gln60=	p.Q60=	ENST00000375394	NM_006929.4	60	caG/caA	0	.	.	.	.	.	A	Q	protein_coding	YES	CCDS4731.1	180	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAACAGTTGTT	NONE	.	.	hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,PIRSF_domain:PIRSF005198	.	.	ENSP00000364543	.	3/28	.	.	.	.	.	.	.	.	.	3/28	PASS	ENST00000375394	Transcript	.	.	ENSG00000204351	10898	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SKIV2_HUMAN	SKIV2L	HGNC	Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN	.	UPI000045740B	SNV	SKIV2L,synonymous_variant,p.%3D,ENST00000375394,;SKIV2L,intron_variant,,ENST00000544581,;NELFE,upstream_gene_variant,,ENST00000436289,;NELFE,upstream_gene_variant,,ENST00000375425,;NELFE,upstream_gene_variant,,ENST00000444811,;NELFE,upstream_gene_variant,,ENST00000375429,;NELFE,upstream_gene_variant,,ENST00000426722,;NELFE,upstream_gene_variant,,ENST00000441998,;NELFE,upstream_gene_variant,,ENST00000454913,;MIR1236,upstream_gene_variant,,ENST00000408340,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000488648,;SKIV2L,synonymous_variant,p.%3D,ENST00000461073,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,intron_variant,,ENST00000474839,;SKIV2L,downstream_gene_variant,,ENST00000492900,;NELFE,upstream_gene_variant,,ENST00000492539,;NELFE,upstream_gene_variant,,ENST00000488426,;NELFE,upstream_gene_variant,,ENST00000494956,;NELFE,upstream_gene_variant,,ENST00000492185,;NELFE,upstream_gene_variant,,ENST00000481121,;NELFE,upstream_gene_variant,,ENST00000491139,;SKIV2L,upstream_gene_variant,,ENST00000466290,;	293	79	76	SUCCESS
SCUBE3	222663	.	GRCh37	6	35196493	35196493	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	21	118	0	ENST00000274938.7:c.311C>T	p.Ala104Val	p.A104V	ENST00000274938	NM_152753.2	104	gCa/gTa	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS4800.1	311	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCACATG	NONE	.	.	PROSITE_profiles:PS50026,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2,PROSITE_patterns:PS01186,Pfam_domain:PF12662,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	.	.	ENSP00000274938	.	3/22	.	.	.	.	.	.	.	.	.	3/22	PASS	ENST00000274938	Transcript	.	.	ENSG00000146197	13655	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.986)	.	deleterious(0.05)	.	SCUB3_HUMAN	SCUBE3	HGNC	Q7Z3I8_HUMAN	.	UPI0000074423	SNV	SCUBE3,missense_variant,p.Ala104Val,ENST00000394681,;SCUBE3,missense_variant,p.Ala104Val,ENST00000274938,;RP3-329A5.8,upstream_gene_variant,,ENST00000605896,;	311	118	128	SUCCESS
COL19A1	1310	.	GRCh37	6	70856559	70856559	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	107	226	1	ENST00000322773.4:c.1779T>G	p.Asp593Glu	p.D593E	ENST00000322773	NM_001858.4	593	gaT/gaG	0	.	.	.	.	.	G	D/E	protein_coding	YES	CCDS4970.1	1779	RADIA|MUTECT|MUSE	.	TTAGATGGAAA	NONE	.	.	Pfam_domain:PF01391,hmmpanther:PTHR24022:SF80,hmmpanther:PTHR24022	.	.	ENSP00000316030	.	26/51	.	.	.	.	.	.	.	.	.	26/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.892)	.	tolerated(0.56)	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,missense_variant,p.Asp593Glu,ENST00000322773,;COL19A1,missense_variant,p.Asp215Glu,ENST00000393344,;	1881	227	282	SUCCESS
ACTL6B	51412	.	GRCh37	7	100247666	100247666	+	synonymous_variant	Silent	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	25	34	0	ENST00000160382.5:c.462C>G	p.Leu154=	p.L154=	ENST00000160382	NM_016188.4	154	ctC/ctG	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS5702.1	462	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGTGAGCAC	NONE	.	.	hmmpanther:PTHR11937:SF196,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	.	.	ENSP00000160382	.	5/14	.	.	.	.	.	.	.	.	.	5/14	PASS	ENST00000160382	Transcript	.	.	ENSG00000077080	160	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACL6B_HUMAN	ACTL6B	HGNC	C9JQT4_HUMAN	.	UPI0000126725	SNV	ACTL6B,synonymous_variant,p.%3D,ENST00000160382,;ACTL6B,downstream_gene_variant,,ENST00000461605,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000489904,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000487225,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000485601,;ACTL6B,upstream_gene_variant,,ENST00000487125,;	569	34	38	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117431601	117431601	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	145	229	0	ENST00000160373.3:c.1649C>A	p.Pro550Gln	p.P550Q	ENST00000160373	NM_033427.2	550	cCa/cAa	0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS5774.1	1649	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTGGCTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	4/23	.	.	.	.	.	.	.	.	COSM3745496	4/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious(0)	1	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Pro79Gln,ENST00000446636,;CTTNBP2,missense_variant,p.Pro550Gln,ENST00000160373,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Pro550Gln,ENST00000441556,;	1741	229	221	SUCCESS
CTTNBP2	83992	.	GRCh37	7	117431602	117431602	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs770082714	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	145	227	0	ENST00000160373.3:c.1648C>G	p.Pro550Ala	p.P550A	ENST00000160373	NM_033427.2	550	Cca/Gca	0	.	.	.	.	.	C	P/A	protein_coding	YES	CCDS5774.1	1648	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGGCTTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	.	.	ENSP00000160373	.	4/23	.	.	.	.	.	.	.	.	rs770082714	4/23	PASS	ENST00000160373	Transcript	.	.	ENSG00000077063	15679	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	CTTB2_HUMAN	CTTNBP2	HGNC	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN	.	UPI000006E94A	SNV	CTTNBP2,missense_variant,p.Pro79Ala,ENST00000446636,;CTTNBP2,missense_variant,p.Pro550Ala,ENST00000160373,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Pro550Ala,ENST00000441556,;	1740	227	217	SUCCESS
AGBL3	340351	.	GRCh37	7	134819954	134819954	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1284482120	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	101	0	ENST00000436302.2:c.2704C>A	p.Gln902Lys	p.Q902K	ENST00000436302	NM_178563.3	902	Cag/Aag	0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS47718.1	2704	RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGCAGGCC	NONE	.	.	.	.	.	ENSP00000388275	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000436302	Transcript	.	.	ENSG00000146856	27981	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.003)	.	tolerated_low_confidence(0.31)	.	CBPC3_HUMAN	AGBL3	HGNC	.	.	UPI000192952B	SNV	AGBL3,missense_variant,p.Gln957Lys,ENST00000458078,;AGBL3,missense_variant,p.Gln902Lys,ENST00000436302,;AGBL3,intron_variant,,ENST00000435976,;C7orf49,intron_variant,,ENST00000464070,;C7orf49,intron_variant,,ENST00000459937,;	2957	101	122	SUCCESS
GNA12	2768	.	GRCh37	7	2771054	2771054	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	126	5	111	0	ENST00000275364.3:c.907G>C	p.Glu303Gln	p.E303Q	ENST00000275364	NM_007353.2	303	Gag/Cag	0	.	.	.	.	.	G	E/Q	protein_coding	YES	CCDS5335.1	907	MUTECT|MUSE	.	CTTCTCCACCA	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF130,hmmpanther:PTHR10218	.	.	ENSP00000275364	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000275364	Transcript	.	.	ENSG00000146535	4380	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.143)	.	tolerated(0.07)	.	GNA12_HUMAN	GNA12	HGNC	.	.	UPI000013DA5B	SNV	GNA12,missense_variant,p.Glu303Gln,ENST00000275364,;GNA12,missense_variant,p.Glu210Gln,ENST00000544127,;GNA12,missense_variant,p.Glu155Gln,ENST00000396960,;GNA12,missense_variant,p.Glu227Gln,ENST00000407653,;GNA12,missense_variant,p.Glu244Gln,ENST00000407904,;GNA12,non_coding_transcript_exon_variant,,ENST00000491117,;GNA12,non_coding_transcript_exon_variant,,ENST00000485329,;GNA12,non_coding_transcript_exon_variant,,ENST00000471281,;GNA12,non_coding_transcript_exon_variant,,ENST00000496740,;AMZ1,intron_variant,,ENST00000489665,;	1070	111	131	SUCCESS
GNA12	2768	.	GRCh37	7	2771229	2771229	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	82	0	ENST00000275364.3:c.732G>C	p.Gly244=	p.G244=	ENST00000275364	NM_007353.2	244	ggG/ggC	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS5335.1	732	MUTECT|MUSE	.	GTGATCCCGTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF130,hmmpanther:PTHR10218	.	.	ENSP00000275364	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000275364	Transcript	.	.	ENSG00000146535	4380	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNA12_HUMAN	GNA12	HGNC	.	.	UPI000013DA5B	SNV	GNA12,synonymous_variant,p.%3D,ENST00000275364,;GNA12,synonymous_variant,p.%3D,ENST00000544127,;GNA12,synonymous_variant,p.%3D,ENST00000396960,;GNA12,synonymous_variant,p.%3D,ENST00000407653,;GNA12,synonymous_variant,p.%3D,ENST00000407904,;GNA12,non_coding_transcript_exon_variant,,ENST00000491117,;GNA12,non_coding_transcript_exon_variant,,ENST00000485329,;GNA12,non_coding_transcript_exon_variant,,ENST00000471281,;GNA12,non_coding_transcript_exon_variant,,ENST00000496740,;AMZ1,intron_variant,,ENST00000489665,;	895	82	110	SUCCESS
AUTS2	26053	.	GRCh37	7	70255042	70255042	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749321104	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	98	146	0	ENST00000342771.4:c.2840C>T	p.Pro947Leu	p.P947L	ENST00000342771	NM_015570.2	947	cCg/cTg	0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS5539.1	2840	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCCCGGTGG	NONE	.	.	hmmpanther:PTHR14429:SF5,hmmpanther:PTHR14429	.	.	ENSP00000344087	.	19/19	.	.	.	.	.	.	.	.	rs749321104	19/19	PASS	ENST00000342771	Transcript	.	.	ENSG00000158321	14262	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.619)	.	tolerated(0.14)	.	AUTS2_HUMAN	AUTS2	HGNC	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN	.	UPI0000126665	SNV	AUTS2,missense_variant,p.Pro947Leu,ENST00000342771,;AUTS2,missense_variant,p.Pro923Leu,ENST00000406775,;AUTS2,downstream_gene_variant,,ENST00000418686,;AUTS2,downstream_gene_variant,,ENST00000439256,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000449547,;	3161	146	156	SUCCESS
HGF	3082	.	GRCh37	7	81372775	81372775	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	6	106	0	ENST00000222390.5:c.759G>T	p.Lys253Asn	p.K253N	ENST00000222390	NM_000601.4	253	aaG/aaT	0	.	.	.	.	.	A	K/N	protein_coding	YES	CCDS5597.1	759	MUTECT|MUSE	.	AAGCCCTTGTC	NONE	.	.	PROSITE_profiles:PS50070,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018	.	.	ENSP00000222390	.	7/18	.	.	.	.	.	.	.	.	.	7/18	PASS	ENST00000222390	Transcript	.	.	ENSG00000019991	4893	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.465)	.	deleterious(0.03)	.	HGF_HUMAN	HGF	HGNC	C9JS80_HUMAN,C9JDP4_HUMAN	.	UPI000000D92B	SNV	HGF,missense_variant,p.Lys248Asn,ENST00000453411,;HGF,missense_variant,p.Lys248Asn,ENST00000457544,;HGF,missense_variant,p.Lys253Asn,ENST00000222390,;HGF,missense_variant,p.Lys253Asn,ENST00000444829,;	986	106	127	SUCCESS
ZNF394	84124	.	GRCh37	7	99091247	99091247	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	69	160	0	ENST00000337673.6:c.1591G>A	p.Gly531Arg	p.G531R	ENST00000337673	NM_032164.2	531	Ggg/Agg	0	.	.	.	.	.	T	G/R	protein_coding	YES	CCDS5666.1	1591	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCACATT	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000337363	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337673	Transcript	.	.	ENSG00000160908	18832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	ZN394_HUMAN	ZNF394	HGNC	.	.	UPI000006F498	SNV	ZNF394,missense_variant,p.Gly531Arg,ENST00000337673,;ZNF394,3_prime_UTR_variant,,ENST00000426306,;ZNF789,intron_variant,,ENST00000493485,;ZNF394,intron_variant,,ENST00000462024,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,downstream_gene_variant,,ENST00000394177,;ZNF394,downstream_gene_variant,,ENST00000485576,;ZNF394,downstream_gene_variant,,ENST00000464401,;ZNF394,downstream_gene_variant,,ENST00000481881,;	1795	160	211	SUCCESS
PKHD1L1	93035	.	GRCh37	8	110420351	110420351	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	19	111	0	ENST00000378402.5:c.1887A>G	p.Lys629=	p.K629=	ENST00000378402	NM_177531.4	629	aaA/aaG	0	.	.	.	.	.	G	K	protein_coding	YES	CCDS47911.1	1887	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAAGGAAA	NONE	.	.	.	.	.	ENSP00000367655	.	18/78	.	.	.	.	.	.	.	.	.	18/78	PASS	ENST00000378402	Transcript	.	.	ENSG00000205038	20313	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHL1_HUMAN	PKHD1L1	HGNC	.	.	UPI0000E5B020	SNV	PKHD1L1,synonymous_variant,p.%3D,ENST00000378402,;	1991	111	103	SUCCESS
RP1	6101	.	GRCh37	8	55534746	55534746	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	45	82	0	ENST00000220676.1:c.685C>T	p.Pro229Ser	p.P229S	ENST00000220676	NM_006269.1	229	Cca/Tca	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS6160.1	685	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAACCAGGA	BUFFER|p.G230E|c.689G>A|3	.	.	Superfamily_domains:SSF89837,SMART_domains:SM00537,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309	.	.	ENSP00000220676	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000220676	Transcript	1	.	ENSG00000104237	10263	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0)	.	RP1_HUMAN	RP1	HGNC	A0FDN2_HUMAN	.	UPI000013455B	SNV	RP1,missense_variant,p.Pro229Ser,ENST00000220676,;	833	82	104	SUCCESS
IMPAD1	0	.	GRCh37	8	57906212	57906212	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs983944939	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	154	0	ENST00000262644.4:c.-68G>T		p.*23*	ENST00000262644	NM_017813.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6169.1	.	MUTECT|MUSE	.	GCCGCCGCAGC	NONE	.	.	.	.	.	ENSP00000262644	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000262644	Transcript	1	.	ENSG00000104331	26019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMPA3_HUMAN	IMPAD1	HGNC	.	.	UPI000006DE7A	SNV	IMPAD1,5_prime_UTR_variant,,ENST00000262644,;IMPAD1,upstream_gene_variant,,ENST00000517461,;	192	154	136	SUCCESS
JPH1	56704	.	GRCh37	8	75233276	75233276	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs746817547	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	59	149	0	ENST00000342232.4:c.247del	p.Arg83GlyfsTer72	p.R83Gfs*72	ENST00000342232	NM_020647.2	83	Cgg/gg	0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS6217.1	247	INDELOCATOR*|VARSCANI*|PINDEL	.	CCCCCCGGTACA	NONE	byFrequency	.	hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,Gene3D:1h3iA01,Pfam_domain:PF02493,PIRSF_domain:PIRSF037387,Superfamily_domains:0038399	.	.	ENSP00000344488	.	1/6	.	.	.	.	.	.	.	.	rs746817547	1/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	deletion	JPH1,frameshift_variant,p.Arg83GlyfsTer72,ENST00000342232,;GDAP1,upstream_gene_variant,,ENST00000520797,;GDAP1,upstream_gene_variant,,ENST00000521096,;JPH1,intron_variant,,ENST00000519947,;	288	149	246	SUCCESS
GDAP1	54332	.	GRCh37	8	75274160	75274160	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1475695228	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	89	0	ENST00000220822.7:c.526G>A	p.Glu176Lys	p.E176K	ENST00000220822	NM_001040875.2	176	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34911.1	526	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGAAGAA	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF127,hmmpanther:PTHR11260	.	.	ENSP00000220822	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000220822	Transcript	1	.	ENSG00000104381	15968	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	deleterious(0.04)	.	GDAP1_HUMAN	GDAP1	HGNC	B4DIH2_HUMAN	.	UPI00001AE62B	SNV	GDAP1,missense_variant,p.Glu108Lys,ENST00000434412,;GDAP1,missense_variant,p.Glu176Lys,ENST00000220822,;GDAP1,non_coding_transcript_exon_variant,,ENST00000524366,;GDAP1,non_coding_transcript_exon_variant,,ENST00000521096,;GDAP1,non_coding_transcript_exon_variant,,ENST00000520797,;GDAP1,downstream_gene_variant,,ENST00000523640,;GDAP1,upstream_gene_variant,,ENST00000524195,;GDAP1,3_prime_UTR_variant,,ENST00000522568,;	606	89	98	SUCCESS
RNF20	56254	.	GRCh37	9	104303224	104303224	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1250049994	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	53	101	1	ENST00000389120.3:c.595G>T	p.Val199Leu	p.V199L	ENST00000389120	NM_019592.6	199	Gtg/Ttg	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS35084.1	595	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGTGGAG	NONE	.	.	hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000373772	.	5/20	.	.	.	.	.	.	.	.	.	5/20	PASS	ENST00000389120	Transcript	.	.	ENSG00000155827	10062	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.29)	.	BRE1A_HUMAN	RNF20	HGNC	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN	.	UPI00001CE3B5	SNV	RNF20,missense_variant,p.Val199Leu,ENST00000389120,;RNF20,downstream_gene_variant,,ENST00000479306,;RNF20,downstream_gene_variant,,ENST00000466817,;RNF20,downstream_gene_variant,,ENST00000374819,;RNF20,downstream_gene_variant,,ENST00000481046,;	685	102	144	SUCCESS
OLFML2A	169611	.	GRCh37	9	127563314	127563314	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	14	88	0	ENST00000373580.3:c.670-379C>T		p.*224*	ENST00000373580	NM_182487.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6857.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCACGTACT	NONE	.	.	.	.	.	ENSP00000362682	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000373580	Transcript	.	.	ENSG00000185585	27270	.	.	MODIFIER	4/7	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OLM2A_HUMAN	OLFML2A	HGNC	.	.	UPI00001B6546	SNV	OLFML2A,5_prime_UTR_variant,,ENST00000288815,;OLFML2A,intron_variant,,ENST00000331715,;OLFML2A,intron_variant,,ENST00000373580,;	.	88	122	SUCCESS
DNM1	1759	.	GRCh37	9	130965733	130965734	+	5_prime_UTR_variant	5'UTR	INS	-	-	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	50	0	ENST00000372923.3:c.-13dup		p.*5*	ENST00000372923	NM_004408.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6895.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTGCGGGGC	NONE	.	.	.	.	.	ENSP00000362014	.	1/22	.	.	.	.	.	.	.	.	.	1/22	PASS	ENST00000372923	Transcript	.	.	ENSG00000106976	2972	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DYN1_HUMAN	DNM1	HGNC	.	.	UPI000013CA31	insertion	DNM1,5_prime_UTR_variant,,ENST00000341179,;DNM1,5_prime_UTR_variant,,ENST00000372923,;DNM1,5_prime_UTR_variant,,ENST00000486160,;DNM1,5_prime_UTR_variant,,ENST00000475805,;DNM1,5_prime_UTR_variant,,ENST00000393594,;CIZ1,intron_variant,,ENST00000393608,;CIZ1,intron_variant,,ENST00000372948,;	76-77	50	55	SUCCESS
SPTAN1	6709	.	GRCh37	9	131329101	131329101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	71	143	0	ENST00000372731.4:c.82C>T	p.Arg28Cys	p.R28C	ENST00000372731	NM_003127.3	28	Cgc/Tgc	0	.	.	.	.	.	T	R/C	protein_coding	YES	CCDS48036.1	82	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACCGCTTC	NONE	.	.	hmmpanther:PTHR11915:SF250,hmmpanther:PTHR11915,Gene3D:1.20.5.170,Superfamily_domains:SSF46966	.	.	ENSP00000361824	.	2/57	.	.	.	.	.	.	.	.	.	2/57	PASS	ENST00000372739	Transcript	.	.	ENSG00000197694	11273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.932)	.	deleterious(0.01)	.	SPTN1_HUMAN	SPTAN1	HGNC	.	.	UPI000045894C	SNV	SPTAN1,missense_variant,p.Arg28Cys,ENST00000372739,;SPTAN1,missense_variant,p.Arg28Cys,ENST00000358161,;SPTAN1,missense_variant,p.Arg28Cys,ENST00000372731,;	192	143	166	SUCCESS
SLC2A6	11182	.	GRCh37	9	136343498	136343498	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs782317059	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	83	136	1	ENST00000371899.4:c.133G>A	p.Ala45Thr	p.A45T	ENST00000371899	NM_017585.3	45	Gca/Aca	0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS6975.1	133	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCGGCGA	NONE	byFrequency	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	.	.	ENSP00000360966	.	2/10	.	.	.	.	.	.	.	.	rs782317059	2/10	PASS	ENST00000371899	Transcript	.	.	ENSG00000160326	11011	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	GTR6_HUMAN	SLC2A6	HGNC	.	.	UPI0000001BE8	SNV	SLC2A6,missense_variant,p.Ala45Thr,ENST00000371899,;SLC2A6,missense_variant,p.Ala45Thr,ENST00000371897,;SLC2A6,missense_variant,p.Ala45Thr,ENST00000432868,;SLC2A6,intron_variant,,ENST00000414172,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;	211	137	186	SUCCESS
TOPORS	10210	.	GRCh37	9	32552465	32552465	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	50	112	1	ENST00000360538.2:c.-31C>T		p.*11*	ENST00000360538	NM_005802.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6527.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACTGGATTTA	NONE	.	.	.	.	.	ENSP00000353735	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,5_prime_UTR_variant,,ENST00000360538,;TOPORS,5_prime_UTR_variant,,ENST00000379858,;NDUFB6,downstream_gene_variant,,ENST00000350021,;NDUFB6,downstream_gene_variant,,ENST00000379847,;TOPORS-AS1,non_coding_transcript_exon_variant,,ENST00000425533,;TOPORS-AS1,non_coding_transcript_exon_variant,,ENST00000458036,;TOPORS-AS1,non_coding_transcript_exon_variant,,ENST00000453396,;TOPORS-AS1,non_coding_transcript_exon_variant,,ENST00000450093,;TOPORS-AS1,non_coding_transcript_exon_variant,,ENST00000540066,;AL353671.4,upstream_gene_variant,,ENST00000397218,;AL353671.3,upstream_gene_variant,,ENST00000366466,;AL353671.2,downstream_gene_variant,,ENST00000359975,;AL353671.1,upstream_gene_variant,,ENST00000366355,;	87	114	115	SUCCESS
MELK	9833	.	GRCh37	9	36643018	36643018	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs374744271	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	243	160	362	0	ENST00000298048.2:c.859G>A	p.Val287Ile	p.V287I	ENST00000298048	NM_014791.3	287	Gta/Ata	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS6606.1	859	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGCGTAACA	BUFFER|p.E289*|c.865G>T|3	byFrequency|byCluster	.	Superfamily_domains:SSF56112,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343	.	.	ENSP00000298048	.	11/18	.	.	.	.	.	.	.	.	rs374744271,COSM3722513	11/18	common_in_exac	ENST00000298048	Transcript	.	.	ENSG00000165304	16870	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.002)	.	tolerated(0.98)	0,1	MELK_HUMAN	MELK	HGNC	A7BG63_HUMAN	.	UPI000004776B	SNV	MELK,missense_variant,p.Val239Ile,ENST00000536860,;MELK,missense_variant,p.Val287Ile,ENST00000541717,;MELK,missense_variant,p.Val156Ile,ENST00000536987,;MELK,missense_variant,p.Val216Ile,ENST00000545008,;MELK,missense_variant,p.Val287Ile,ENST00000298048,;MELK,missense_variant,p.Val255Ile,ENST00000543751,;MELK,missense_variant,p.Val216Ile,ENST00000536329,;MELK,missense_variant,p.Val93Ile,ENST00000538311,;	1043	362	403	SUCCESS
LUZP4	51213	.	GRCh37	X	114524334	114524334	+	synonymous_variant	Silent	SNP	G	G	A	.	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	52	100	0	ENST00000371920.3:c.9G>A	p.Ser3=	p.S3=	ENST00000371920	NM_016383.3	3	tcG/tcA	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14567.1	9	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCGTTTCG	NONE	.	.	hmmpanther:PTHR22550:SF6,hmmpanther:PTHR22550	.	.	ENSP00000360988	.	1/4	.	.	.	.	.	.	.	.	COSM456549	1/4	PASS	ENST00000371920	Transcript	.	.	ENSG00000102021	24971	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LUZP4_HUMAN	LUZP4	HGNC	.	.	UPI0000036093	SNV	LUZP4,synonymous_variant,p.%3D,ENST00000371920,;LUZP4,synonymous_variant,p.%3D,ENST00000371921,;LUZP4,5_prime_UTR_variant,,ENST00000451986,;	16	100	130	SUCCESS
IL13RA1	3597	.	GRCh37	X	117895239	117895239	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	43	149	0	ENST00000371666.3:c.815A>G	p.His272Arg	p.H272R	ENST00000371666	NM_001560.2	272	cAt/cGt	0	.	.	.	.	.	G	H/R	protein_coding	YES	CCDS14573.1	815	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACATAATG	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF85,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	.	.	ENSP00000360730	.	6/11	.	.	.	.	.	.	.	.	.	6/11	PASS	ENST00000371666	Transcript	.	.	ENSG00000131724	5974	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.52)	.	I13R1_HUMAN	IL13RA1	HGNC	.	.	UPI0000000CA3	SNV	IL13RA1,missense_variant,p.His272Arg,ENST00000371642,;IL13RA1,missense_variant,p.His272Arg,ENST00000371666,;IL13RA1,non_coding_transcript_exon_variant,,ENST00000481868,;	882	149	177	SUCCESS
ZCCHC12	170261	.	GRCh37	X	117959257	117959257	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1274558588	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	59	146	0	ENST00000310164.2:c.50C>A	p.Pro17His	p.P17H	ENST00000310164	NM_173798.2	17	cCc/cAc	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS14574.1	50	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACCCTTGC	NONE	.	.	hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF18,Pfam_domain:PF14893	.	.	ENSP00000308921	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310164	Transcript	.	.	ENSG00000174460	27273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.072)	.	tolerated(0.06)	.	ZCH12_HUMAN	ZCCHC12	HGNC	.	.	UPI00000373C7	SNV	ZCCHC12,missense_variant,p.Pro17His,ENST00000310164,;	557	146	157	SUCCESS
MAGEA1	4100	.	GRCh37	X	152482654	152482654	+	synonymous_variant	Silent	SNP	G	G	A	rs782042342	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	196	140	281	0	ENST00000356661.5:c.357C>T	p.Ala119=	p.A119=	ENST00000356661	NM_004988.4	119	gcC/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS14720.1	357	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTGGCTCG	NONE	.	.	PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF49,hmmpanther:PTHR11736,Pfam_domain:PF01454	.	.	ENSP00000349085	.	3/3	.	.	.	.	.	.	.	.	rs782042342	3/3	PASS	ENST00000356661	Transcript	.	.	ENSG00000198681	6796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA1_HUMAN	MAGEA1	HGNC	A8IF97_HUMAN	.	UPI0000035FCB	SNV	MAGEA1,synonymous_variant,p.%3D,ENST00000356661,;	576	281	337	SUCCESS
USP9X	8239	.	GRCh37	X	41022048	41022048	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	102	197	0	ENST00000324545.8:c.1903G>T	p.Glu635Ter	p.E635*	ENST00000324545	NM_001039590.2	635	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS43930.1	1903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATGAAGAT	NONE	.	.	hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359	.	.	ENSP00000316357	.	15/45	.	.	.	.	.	.	.	.	.	15/45	PASS	ENST00000324545	Transcript	.	.	ENSG00000124486	12632	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	USP9X_HUMAN	USP9X	HGNC	.	.	UPI00001AF419	SNV	USP9X,stop_gained,p.Glu635Ter,ENST00000378308,;USP9X,stop_gained,p.Glu635Ter,ENST00000324545,;USP9X,upstream_gene_variant,,ENST00000467173,;	2536	197	222	SUCCESS
CASK	8573	.	GRCh37	X	41394032	41394032	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	52	85	0	ENST00000378163.1:c.2244T>C	p.His748=	p.H748=	ENST00000378163		748	caT/caC	0	.	.	.	.	.	G	H	protein_coding	YES	CCDS14257.1	2229	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCATGTGC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40,PROSITE_profiles:PS50052	.	.	ENSP00000367408	.	24/27	.	.	.	.	.	.	.	.	.	24/27	PASS	ENST00000378166	Transcript	.	.	ENSG00000147044	1497	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSKP_HUMAN	CASK	HGNC	.	.	UPI000013DA91	SNV	CASK,synonymous_variant,p.%3D,ENST00000421587,;CASK,synonymous_variant,p.%3D,ENST00000442742,;CASK,synonymous_variant,p.%3D,ENST00000378166,;CASK,synonymous_variant,p.%3D,ENST00000318588,;CASK,synonymous_variant,p.%3D,ENST00000378179,;CASK,synonymous_variant,p.%3D,ENST00000378163,;CASK,synonymous_variant,p.%3D,ENST00000361962,;CASK,synonymous_variant,p.%3D,ENST00000378158,;CASK,synonymous_variant,p.%3D,ENST00000378168,;	2256	85	109	SUCCESS
TSPYL2	64061	.	GRCh37	X	53115089	53115089	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	44	171	0	ENST00000375442.4:c.1515T>A	p.Thr505=	p.T505=	ENST00000375442	NM_022117.3	505	acT/acA	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS14350.1	1515	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACTGACAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF31	.	.	ENSP00000364591	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000375442	Transcript	.	.	ENSG00000184205	24358	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSYL2_HUMAN	TSPYL2	HGNC	.	.	UPI000004B6D6	SNV	TSPYL2,synonymous_variant,p.%3D,ENST00000375442,;TSPYL2,synonymous_variant,p.%3D,ENST00000579390,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000553557,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000463525,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000556808,;TSPYL2,downstream_gene_variant,,ENST00000578306,;	1647	171	193	SUCCESS
TRO	7216	.	GRCh37	X	54955093	54955093	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	113	211	0	ENST00000173898.7:c.1936G>A	p.Glu646Lys	p.E646K	ENST00000173898	NM_001039705.2	646	Gaa/Aaa	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS43959.1	1936	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGAAGTC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11736:SF57,hmmpanther:PTHR11736	.	.	ENSP00000173898	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated(0.05)	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,missense_variant,p.Glu646Lys,ENST00000375022,;TRO,missense_variant,p.Glu646Lys,ENST00000319167,;TRO,missense_variant,p.Glu249Lys,ENST00000399736,;TRO,missense_variant,p.Glu249Lys,ENST00000375041,;TRO,missense_variant,p.Glu177Lys,ENST00000420798,;TRO,missense_variant,p.Glu646Lys,ENST00000173898,;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000545676,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,non_coding_transcript_exon_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,missense_variant,p.Glu646Lys,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,non_coding_transcript_exon_variant,,ENST00000469211,;	2048	211	245	SUCCESS
ZXDB	158586	.	GRCh37	X	57618959	57618959	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs751291946	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	53	90	0	ENST00000374888.1:c.478G>T	p.Gly160Cys	p.G160C	ENST00000374888	NM_007157.3	160	Ggc/Tgc	0	.	.	.	.	.	T	G/C	protein_coding	YES	CCDS35313.1	478	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGGCCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF72,hmmpanther:PTHR19818	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	rs751291946	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.775)	.	deleterious(0)	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	SNV	ZXDB,missense_variant,p.Gly160Cys,ENST00000374888,;	691	90	134	SUCCESS
ZXDB	158586	.	GRCh37	X	57618960	57618960	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs756968579	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	51	91	0	ENST00000374888.1:c.479G>T	p.Gly160Val	p.G160V	ENST00000374888	NM_007157.3	160	gGc/gTc	0	.	.	.	.	.	T	G/V	protein_coding	YES	CCDS35313.1	479	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGGCCCCG	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF72,hmmpanther:PTHR19818	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	rs756968579	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.255)	.	deleterious(0.04)	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	SNV	ZXDB,missense_variant,p.Gly160Val,ENST00000374888,;	692	91	136	SUCCESS
RGAG4	0	.	GRCh37	X	71351073	71351073	+	synonymous_variant	Silent	SNP	G	G	A	rs767444398	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	67	156	0	ENST00000545866.1:c.318C>T	p.Asn106=	p.N106=	ENST00000545866	NM_001024455.3	106	aaC/aaT	0	.	.	.	.	.	A	N	protein_coding	YES	CCDS55446.1	318	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACGTTAAT	NONE	.	.	hmmpanther:PTHR15503:SF2,hmmpanther:PTHR15503	.	.	ENSP00000441366	.	1/2	.	.	.	.	.	.	.	.	rs767444398	1/2	PASS	ENST00000545866	Transcript	.	.	ENSG00000242732	29430	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGAG4_HUMAN	RGAG4	HGNC	.	.	UPI00001C2079	SNV	RGAG4,synonymous_variant,p.%3D,ENST00000609883,;RGAG4,synonymous_variant,p.%3D,ENST00000545866,;NHSL2,intron_variant,,ENST00000540800,;NHSL2,upstream_gene_variant,,ENST00000373677,;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,upstream_gene_variant,,ENST00000535692,;RGAG4,synonymous_variant,p.%3D,ENST00000479991,;RP11-262D11.1,upstream_gene_variant,,ENST00000513469,;	686	157	163	SUCCESS
HDX	139324	.	GRCh37	X	83723670	83723670	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs138694491	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	17	155	0	ENST00000297977.5:c.1061T>C	p.Met354Thr	p.M354T	ENST00000297977	NM_001177479.1	354	aTg/aCg	0	T:0	.	.	.	.	G	M/T	protein_coding	YES	CCDS35342.1	1061	RADIA|MUTECT|MUSE|VARSCANS	.	TCACCATTTGT	NONE	.	.	hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636	.	T:0.0001	ENSP00000297977	.	3/10	.	.	.	.	.	.	.	.	rs138694491	3/10	PASS	ENST00000297977	Transcript	.	.	ENSG00000165259	26411	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.067)	.	tolerated(0.29)	.	HDX_HUMAN	HDX	HGNC	E2QRN0_HUMAN	.	UPI00001A9DA4	SNV	HDX,missense_variant,p.Met296Thr,ENST00000506585,;HDX,missense_variant,p.Met354Thr,ENST00000373177,;HDX,missense_variant,p.Met354Thr,ENST00000297977,;HDX,downstream_gene_variant,,ENST00000449553,;HDX,non_coding_transcript_exon_variant,,ENST00000472135,;	1173	155	170	SUCCESS
PAX2	5076	.	GRCh37	10	102584454	102584454	+	synonymous_variant	Silent	SNP	C	C	A	rs1436701401	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	56	0	ENST00000428433.1:c.1038C>A	p.Pro346=	p.P346=	ENST00000428433	NM_003987.3	346	ccC/ccA	0	.	.	.	.	.	A	P	protein_coding	YES	CCDS53569.1	1038	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCCCCCAC	NONE	.	.	Pfam_domain:PF12403,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172	.	.	ENSP00000396259	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000428433	Transcript	1	.	ENSG00000075891	8616	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAX2_HUMAN	PAX2	HGNC	Q5SZP1_HUMAN	.	UPI00001AEA24	SNV	PAX2,synonymous_variant,p.%3D,ENST00000361791,;PAX2,synonymous_variant,p.%3D,ENST00000355243,;PAX2,synonymous_variant,p.%3D,ENST00000556085,;PAX2,synonymous_variant,p.%3D,ENST00000370296,;PAX2,synonymous_variant,p.%3D,ENST00000428433,;	1588	56	44	SUCCESS
EDRF1	26098	.	GRCh37	10	127431661	127431661	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	5	104	0	ENST00000356792.4:c.2406A>C	p.Leu802Phe	p.L802F	ENST00000356792	NM_001202438.1	802	ttA/ttC	0	.	.	.	.	.	C	L/F	protein_coding	YES	CCDS55733.1	2406	MUTECT|MUSE	.	GACTTAGAAAG	NONE	.	.	hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000	.	.	ENSP00000349244	.	18/25	.	.	.	.	.	.	.	.	.	18/25	PASS	ENST00000356792	Transcript	.	.	ENSG00000107938	24640	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.942)	.	tolerated(0.06)	.	EDRF1_HUMAN	EDRF1	HGNC	.	.	UPI00005CA2E3	SNV	EDRF1,missense_variant,p.Leu802Phe,ENST00000356792,;EDRF1,missense_variant,p.Leu768Phe,ENST00000337623,;EDRF1,downstream_gene_variant,,ENST00000368813,;EDRF1-AS1,downstream_gene_variant,,ENST00000602030,;EDRF1-AS1,downstream_gene_variant,,ENST00000449436,;EDRF1-AS1,downstream_gene_variant,,ENST00000593871,;EDRF1-AS1,downstream_gene_variant,,ENST00000600784,;EDRF1-AS1,downstream_gene_variant,,ENST00000594025,;EDRF1,3_prime_UTR_variant,,ENST00000368815,;EDRF1,3_prime_UTR_variant,,ENST00000481600,;EDRF1,3_prime_UTR_variant,,ENST00000419769,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;EDRF1,upstream_gene_variant,,ENST00000469725,;EDRF1,upstream_gene_variant,,ENST00000525524,;	2638	104	124	SUCCESS
GDF2	2658	.	GRCh37	10	48416487	48416487	+	synonymous_variant	Silent	SNP	G	G	A	rs1229631161	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	59	139	0	ENST00000249598.1:c.207C>T	p.Ser69=	p.S69=	ENST00000249598	NM_016204.1	69	agC/agT	0	.	.	.	.	.	A	S	protein_coding	YES	CCDS7219.1	207	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGGCTGCG	NONE	.	.	hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Pfam_domain:PF00688	.	.	ENSP00000249598	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000249598	Transcript	.	.	ENSG00000128802	4217	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF2_HUMAN	GDF2	HGNC	.	.	UPI000012B394	SNV	GDF2,synonymous_variant,p.%3D,ENST00000249598,;	367	139	117	SUCCESS
ATAD1	84896	.	GRCh37	10	89544307	89544307	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	41	85	0	ENST00000308448.7:c.503G>T	p.Gly168Val	p.G168V	ENST00000308448	NM_032810.2	168	gGa/gTa	0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS7386.1	503	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTCCATAC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00004,Gene3D:3.40.50.300,hmmpanther:PTHR23074:SF73,hmmpanther:PTHR23074	.	.	ENSP00000339017	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000308448	Transcript	.	.	ENSG00000138138	25903	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	ATAD1_HUMAN	ATAD1	HGNC	.	.	UPI000000B2DE	SNV	ATAD1,missense_variant,p.Gly168Val,ENST00000541004,;ATAD1,missense_variant,p.Gly168Val,ENST00000308448,;ATAD1,missense_variant,p.Gly110Val,ENST00000400215,;ATAD1,missense_variant,p.Gly168Val,ENST00000328142,;ATAD1,downstream_gene_variant,,ENST00000495903,;	882	85	97	SUCCESS
TNNI2	7136	.	GRCh37	11	1862321	1862321	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs762215990	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	36	96	0	ENST00000252898.7:c.337C>T	p.Arg113Trp	p.R113W	ENST00000252898		113	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS31333.1	337	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCGGAGG	NONE	byFrequency	.	hmmpanther:PTHR13738:SF2,hmmpanther:PTHR13738,Gene3D:1.20.5.350,Pfam_domain:PF00992,Superfamily_domains:SSF90250	.	.	ENSP00000371331	.	7/8	.	.	.	.	.	.	.	.	rs762215990,COSM4031925	7/8	PASS	ENST00000381906	Transcript	.	.	ENSG00000130598	11946	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1	TNNI2_HUMAN	TNNI2	HGNC	.	.	UPI0000001605	SNV	TNNI2,missense_variant,p.Arg113Trp,ENST00000381911,;TNNI2,missense_variant,p.Arg113Trp,ENST00000252898,;TNNI2,missense_variant,p.Arg113Trp,ENST00000381905,;TNNI2,missense_variant,p.Arg113Trp,ENST00000381906,;SYT8,downstream_gene_variant,,ENST00000381968,;SYT8,downstream_gene_variant,,ENST00000535046,;SYT8,downstream_gene_variant,,ENST00000436964,;SYT8,downstream_gene_variant,,ENST00000341958,;SYT8,downstream_gene_variant,,ENST00000381978,;SYT8,downstream_gene_variant,,ENST00000483280,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000479276,;SYT8,downstream_gene_variant,,ENST00000424556,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000490707,;SYT8,downstream_gene_variant,,ENST00000464897,;TNNI2,downstream_gene_variant,,ENST00000468473,;SYT8,downstream_gene_variant,,ENST00000479089,;	406	96	78	SUCCESS
KCNA4	3739	.	GRCh37	11	30033969	30033969	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs970020205	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	50	0	ENST00000328224.6:c.257G>A	p.Arg86Lys	p.R86K	ENST00000328224	NM_002233.3	86	aGg/aAg	0	.	.	.	.	.	T	R/K	protein_coding	YES	CCDS41629.1	257	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCGCCTCCTC	BUFFER|p.R83Q|c.248G>A|3	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.067)	.	tolerated_low_confidence(0.66)	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,missense_variant,p.Arg86Lys,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	1491	50	43	SUCCESS
ELF5	2001	.	GRCh37	11	34527248	34527248	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1287219257	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	44	127	0	ENST00000312319.2:c.79T>C	p.Cys27Arg	p.C27R	ENST00000312319	NM_001243081.1	27	Tgc/Cgc	0	.	.	.	.	.	G	C/R	protein_coding	YES	CCDS7892.1	79	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCGCAGAAGG	NONE	.	.	hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF15	.	.	ENSP00000311010	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000312319	Transcript	.	.	ENSG00000135374	3320	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.033)	.	deleterious(0.04)	.	ELF5_HUMAN	ELF5	HGNC	A8K443_HUMAN	.	UPI000006EFE4	SNV	ELF5,missense_variant,p.Cys17Arg,ENST00000257832,;ELF5,missense_variant,p.Cys17Arg,ENST00000532417,;ELF5,missense_variant,p.Cys27Arg,ENST00000312319,;ELF5,missense_variant,p.Cys17Arg,ENST00000429939,;ELF5,non_coding_transcript_exon_variant,,ENST00000528709,;	309	127	107	SUCCESS
OR8H2	390151	.	GRCh37	11	55872886	55872886	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs570097222	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	44	119	0	ENST00000313503.1:c.368A>T	p.Tyr123Phe	p.Y123F	ENST00000313503	NM_001005200.1	123	tAt/tTt	0	.	C:0	.	C:0	.	T	Y/F	protein_coding	YES	CCDS31518.1	368	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTATGCAG	BUFFER|p.R122C|c.364C>T|4	by1000G	.	Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,PROSITE_profiles:PS50262	C:0	.	ENSP00000323982	C:0	1/1	.	.	.	.	.	.	.	.	rs570097222	1/1	PASS	ENST00000313503	Transcript	.	C:0.0002	ENSG00000181767	15308	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.91)	C:0.001	deleterious(0.02)	.	OR8H2_HUMAN	OR8H2	HGNC	.	.	UPI0000041D0C	SNV	OR8H2,missense_variant,p.Tyr123Phe,ENST00000313503,;	368	119	99	SUCCESS
CNTF	1270	.	GRCh37	11	58390177	58390177	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	57	120	0	ENST00000361987.4:c.-49A>G		p.*17*	ENST00000361987	NM_000614.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31554.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGACAGAA	NONE	.	.	.	.	.	ENSP00000355370	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000361987	Transcript	.	.	ENSG00000242689	2169	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTF_HUMAN	CNTF	HGNC	.	.	UPI000003052B	SNV	CNTF,5_prime_UTR_variant,,ENST00000361987,;ZFP91,downstream_gene_variant,,ENST00000316059,;ZFP91-CNTF,intron_variant,,ENST00000389919,;ZFP91-CNTF,intron_variant,,ENST00000422974,;	32	121	132	SUCCESS
PIWIL4	143689	.	GRCh37	11	94308255	94308255	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	75	141	0	ENST00000299001.6:c.257G>C	p.Cys86Ser	p.C86S	ENST00000299001	NM_152431.2	86	tGt/tCt	0	.	.	.	.	.	C	C/S	protein_coding	YES	CCDS31656.1	257	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTGTACCA	NONE	.	.	hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27	.	.	ENSP00000299001	.	3/20	.	.	.	.	.	.	.	.	.	3/20	PASS	ENST00000299001	Transcript	.	.	ENSG00000134627	18444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.33)	.	PIWL4_HUMAN	PIWIL4	HGNC	F5GX26_HUMAN	.	UPI000006D0EC	SNV	PIWIL4,missense_variant,p.Cys86Ser,ENST00000299001,;PIWIL4,missense_variant,p.Cys17Ser,ENST00000545603,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,missense_variant,p.Cys17Ser,ENST00000543336,;PIWIL4,missense_variant,p.Cys59Ser,ENST00000446230,;	468	141	184	SUCCESS
MYBPC1	4604	.	GRCh37	12	102045035	102045035	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	49	142	0	ENST00000550270.1:c.1315C>T	p.Leu439=	p.L439=	ENST00000550270		439	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS58268.1	1315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCTGACT	NONE	.	.	hmmpanther:PTHR19900:SF43,hmmpanther:PTHR19900,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	.	.	ENSP00000400908	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000452455	Transcript	.	.	ENSG00000196091	7549	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYPC1_HUMAN	MYBPC1	HGNC	F8W1Z9_HUMAN	.	UPI0001AE6B26	SNV	MYBPC1,synonymous_variant,p.%3D,ENST00000536007,;MYBPC1,synonymous_variant,p.%3D,ENST00000547405,;MYBPC1,synonymous_variant,p.%3D,ENST00000550270,;MYBPC1,synonymous_variant,p.%3D,ENST00000361685,;MYBPC1,synonymous_variant,p.%3D,ENST00000551300,;MYBPC1,synonymous_variant,p.%3D,ENST00000361466,;MYBPC1,synonymous_variant,p.%3D,ENST00000452455,;MYBPC1,synonymous_variant,p.%3D,ENST00000549145,;MYBPC1,synonymous_variant,p.%3D,ENST00000392934,;MYBPC1,synonymous_variant,p.%3D,ENST00000553190,;MYBPC1,synonymous_variant,p.%3D,ENST00000545503,;MYBPC1,synonymous_variant,p.%3D,ENST00000441232,;MYBPC1,synonymous_variant,p.%3D,ENST00000360610,;MYBPC1,synonymous_variant,p.%3D,ENST00000547509,;MYBPC1,synonymous_variant,p.%3D,ENST00000541119,;RP11-755O11.2,intron_variant,,ENST00000547027,;RP11-755O11.2,upstream_gene_variant,,ENST00000552081,;MYBPC1,intron_variant,,ENST00000550501,;	1417	142	123	SUCCESS
EP400NL	0	.	GRCh37	12	132588665	132588665	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	70	138	0	ENST00000443539.2:c.100T>G	p.Ser34Ala	p.S34A	ENST00000443539		34	Tcc/Gcc	0	.	.	.	.	.	G	S/A	protein_coding	YES	.	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCGTCCCTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000404338	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000443539	Transcript	.	.	ENSG00000185684	26602	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated_low_confidence(1)	.	E400N_HUMAN	EP400NL	HGNC	F2Z2G7_HUMAN	.	UPI00003E27F2	SNV	EP400NL,missense_variant,p.Ser34Ala,ENST00000392352,;EP400NL,missense_variant,p.Ser34Ala,ENST00000389560,;EP400NL,missense_variant,p.Ser34Ala,ENST00000539205,;EP400NL,missense_variant,p.Ser34Ala,ENST00000443539,;EP400NL,missense_variant,p.Ser34Ala,ENST00000407361,;EP400NL,missense_variant,p.Ser34Ala,ENST00000376625,;EP400NL,missense_variant,p.Ser34Ala,ENST00000454179,;EP400NL,missense_variant,p.Ser34Ala,ENST00000361109,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,missense_variant,p.Ser34Ala,ENST00000332441,;EP400NL,missense_variant,p.Ser34Ala,ENST00000446190,;	641	138	146	SUCCESS
P2RX2	22953	.	GRCh37	12	133195409	133195409	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs751112633	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	49	0	ENST00000389110.3:c.7G>A	p.Ala3Thr	p.A3T	ENST00000389110	NM_170682.2	3	Gcc/Acc	0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS31930.1	7	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGCCGCC	NONE	.	.	.	.	.	ENSP00000343339	.	1/10	.	.	.	.	.	.	.	.	rs751112633	1/10	PASS	ENST00000343948	Transcript	.	.	ENSG00000187848	15459	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.422)	.	deleterious_low_confidence(0.01)	.	P2RX2_HUMAN	P2RX2	HGNC	.	.	UPI000002B04A	SNV	P2RX2,missense_variant,p.Ala2Thr,ENST00000542301,;P2RX2,missense_variant,p.Ala3Thr,ENST00000389110,;P2RX2,missense_variant,p.Ala3Thr,ENST00000348800,;P2RX2,missense_variant,p.Ala3Thr,ENST00000350048,;P2RX2,missense_variant,p.Ala3Thr,ENST00000351222,;P2RX2,missense_variant,p.Ala3Thr,ENST00000449132,;P2RX2,missense_variant,p.Ala3Thr,ENST00000352418,;P2RX2,missense_variant,p.Ala3Thr,ENST00000343948,;P2RX2,upstream_gene_variant,,ENST00000536121,;POLE,downstream_gene_variant,,ENST00000320574,;P2RX2,upstream_gene_variant,,ENST00000535910,;POLE,downstream_gene_variant,,ENST00000541627,;	7	49	22	SUCCESS
KRT6A	3853	.	GRCh37	12	52886654	52886654	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs749357737	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	92	265	0	ENST00000330722.6:c.319G>A	p.Gly107Ser	p.G107S	ENST00000330722	NM_005554.3	107	Ggc/Agc	0	.	.	.	.	.	T	G/S	protein_coding	YES	CCDS41786.1	319	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	AATGCCGGCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF141,hmmpanther:PTHR23239	.	.	ENSP00000369317	.	1/9	.	.	.	.	.	.	.	.	rs749357737	1/9	PASS	ENST00000330722	Transcript	.	.	ENSG00000205420	6443	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	tolerated(0.2)	.	K2C6A_HUMAN	KRT6A	HGNC	.	.	UPI000013CD4C	SNV	KRT6A,missense_variant,p.Gly107Ser,ENST00000330722,;KRT6A,upstream_gene_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;KRT6A,upstream_gene_variant,,ENST00000549898,;KRT6A,upstream_gene_variant,,ENST00000549754,;	388	265	201	SUCCESS
GLI1	2735	.	GRCh37	12	57865281	57865281	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs368469814	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	30	84	0	ENST00000228682.2:c.2758G>A	p.Ala920Thr	p.A920T	ENST00000228682	NM_005269.2	920	Gcc/Acc	0	A:0	.	.	.	.	A	A/T	protein_coding	YES	CCDS8940.1	2758	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCCCAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818	.	A:0.0002	ENSP00000228682	.	12/12	.	.	.	.	.	.	.	.	rs368469814	12/12	PASS	ENST00000228682	Transcript	.	.	ENSG00000111087	4317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.67)	.	GLI1_HUMAN	GLI1	HGNC	F5H6H8_HUMAN,E9PQQ1_HUMAN,E9PIB9_HUMAN,B1Q2M2_HUMAN	.	UPI000012B607	SNV	GLI1,missense_variant,p.Ala920Thr,ENST00000228682,;GLI1,missense_variant,p.Ala879Thr,ENST00000528467,;GLI1,missense_variant,p.Ala792Thr,ENST00000543426,;GLI1,missense_variant,p.Ala879Thr,ENST00000546141,;ARHGAP9,downstream_gene_variant,,ENST00000552604,;ARHGAP9,downstream_gene_variant,,ENST00000430041,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000356411,;ARHGAP9,downstream_gene_variant,,ENST00000393791,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000548139,;ARHGAP9,downstream_gene_variant,,ENST00000393797,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;ARHGAP9,downstream_gene_variant,,ENST00000424809,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000547200,;ARHGAP9,downstream_gene_variant,,ENST00000550454,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000548148,;	2849	84	105	SUCCESS
COL4A1	1282	.	GRCh37	13	110807652	110807652	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	82	183	0	ENST00000375820.4:c.4733G>A	p.Trp1578Ter	p.W1578*	ENST00000375820	NM_001845.4	1578	tGg/tAg	0	.	.	.	.	.	T	W/*	protein_coding	YES	CCDS9511.1	4733	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCCACAGC	NONE	.	.	PROSITE_profiles:PS51403,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Gene3D:1t60D00,Pfam_domain:PF01413,SMART_domains:SM00111,Superfamily_domains:SSF56436	.	.	ENSP00000364979	.	50/52	.	.	.	.	.	.	.	.	.	50/52	PASS	ENST00000375820	Transcript	.	.	ENSG00000187498	2202	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO4A1_HUMAN	COL4A1	HGNC	A9LSU1_HUMAN	.	UPI00001FCA8A	SNV	COL4A1,stop_gained,p.Trp1578Ter,ENST00000375820,;	4855	183	150	SUCCESS
SPRY2	10253	.	GRCh37	13	80911241	80911241	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	45	148	0	ENST00000377102.1:c.600del	p.Cys201AlafsTer12	p.C201Afs*12	ENST00000377102		200	atC/at	0	.	.	.	.	.	-	I/X	protein_coding	YES	CCDS9463.1	600	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCGCAGATCCA	NONE	.	.	PROSITE_profiles:PS51227,hmmpanther:PTHR12365:SF8,hmmpanther:PTHR12365,Pfam_domain:PF05210	.	.	ENSP00000366306	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377102	Transcript	.	.	ENSG00000136158	11270	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPY2_HUMAN	SPRY2	HGNC	.	.	UPI0000001301	deletion	SPRY2,frameshift_variant,p.Cys201AlafsTer12,ENST00000377102,;SPRY2,frameshift_variant,p.Cys201AlafsTer12,ENST00000377104,;SPRY2,frameshift_variant,p.Cys201AlafsTer12,ENST00000540649,;	1578	148	159	SUCCESS
IGHV1-69	28461	.	GRCh37	14	107170000	107170000	+	synonymous_variant	Silent	SNP	G	G	T	rs782505792	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	77	0	ENST00000390633.2:c.282C>A	p.Ser94=	p.S94=	ENST00000390633		94	tcC/tcA	0	.	.	.	.	.	T	S	IG_V_gene	YES	.	282	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCGTGGATTT	NONE	byFrequency	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	.	ENSP00000375042	.	2/2	.	.	.	.	.	.	.	.	rs782505792	2/2	PASS	ENST00000390633	Transcript	.	.	ENSG00000211973	5558	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IGHV1-69	HGNC	.	.	UPI000011AAC2	SNV	IGHV1-69,synonymous_variant,p.%3D,ENST00000390633,;	343	77	82	SUCCESS
OR4M1	441670	.	GRCh37	14	20248678	20248678	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	57	137	0	ENST00000315957.4:c.197T>C	p.Leu66Pro	p.L66P	ENST00000315957	NM_001005500.1	66	cTg/cCg	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS32021.1	197	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATCTGGCCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000319654	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315957	Transcript	.	.	ENSG00000176299	14735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	OR4M1_HUMAN	OR4M1	HGNC	.	.	UPI0000061F0F	SNV	OR4M1,missense_variant,p.Leu66Pro,ENST00000315957,;OR4N2,intron_variant,,ENST00000557414,;	278	137	138	SUCCESS
OR4F4	26682	.	GRCh37	15	102462967	102462967	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	17	0	ENST00000326183.3:c.296T>A	p.Phe99Tyr	p.F99Y	ENST00000326183	NM_001004195.2	99	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS32343.1	296	RADIA|SOMATICSNIPER|VARSCANS	.	CAAAGAAGTGA	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF72,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000317482	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326183	Transcript	.	.	ENSG00000177693	8301	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.477)	.	tolerated(0.1)	.	OR4F4_HUMAN	OR4F4	HGNC	.	.	UPI0000041E1E	SNV	OR4F4,missense_variant,p.Phe99Tyr,ENST00000326183,;OR4G2P,downstream_gene_variant,,ENST00000328113,;	332	17	21	SUCCESS
RORA	6095	.	GRCh37	15	60824052	60824052	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	80	152	0	ENST00000335670.6:c.197-2A>T		p.X66_splice	ENST00000335670	NM_134261.2	66		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10179.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCTGCAAC	NONE	.	.	.	.	.	ENSP00000261523	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261523	Transcript	.	.	ENSG00000069667	10258	.	.	HIGH	3/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RORA_HUMAN	RORA	HGNC	.	.	UPI0000134548	SNV	RORA,splice_acceptor_variant,,ENST00000335670,;RORA,splice_acceptor_variant,,ENST00000261523,;RORA,splice_acceptor_variant,,ENST00000559343,;RORA,splice_acceptor_variant,,ENST00000449337,;RORA,splice_acceptor_variant,,ENST00000309157,;RP11-219B17.1,intron_variant,,ENST00000559203,;RP11-219B17.1,intron_variant,,ENST00000559902,;RP11-219B17.1,intron_variant,,ENST00000559824,;RP11-219B17.1,intron_variant,,ENST00000558235,;CTD-2501E16.2,intron_variant,,ENST00000560280,;RP11-219B17.1,downstream_gene_variant,,ENST00000558140,;RP11-219B17.1,downstream_gene_variant,,ENST00000501579,;RORA,splice_acceptor_variant,,ENST00000560004,;RORA,splice_acceptor_variant,,ENST00000551975,;RORA,splice_acceptor_variant,,ENST00000557822,;RORA,splice_acceptor_variant,,ENST00000558234,;	.	152	175	SUCCESS
HERC1	8925	.	GRCh37	15	63966786	63966786	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	81	175	0	ENST00000443617.2:c.7601T>A	p.Ile2534Lys	p.I2534K	ENST00000443617	NM_003922.3	2534	aTa/aAa	0	.	.	.	.	.	T	I/K	protein_coding	YES	CCDS45277.1	7601	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTATCAGC	NONE	.	.	hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	.	.	ENSP00000390158	.	38/78	.	.	.	.	.	.	.	.	.	38/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.841)	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,missense_variant,p.Ile2534Lys,ENST00000443617,;HERC1,downstream_gene_variant,,ENST00000559715,;RP11-317G6.1,upstream_gene_variant,,ENST00000559303,;	7689	175	164	SUCCESS
SEMA7A	8482	.	GRCh37	15	74706891	74706891	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs751462985	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	77	226	0	ENST00000261918.4:c.1291A>G	p.Thr431Ala	p.T431A	ENST00000261918	NM_003612.3	431	Aca/Gca	0	.	.	.	.	.	C	T/A	protein_coding	YES	CCDS10262.1	1291	RADIA|MUTECT|MUSE	.	ACCTGTAGTTA	NONE	byFrequency	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000261918	.	10/14	.	.	.	.	.	.	.	.	rs751462985	10/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.973)	.	deleterious(0.01)	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,missense_variant,p.Thr431Ala,ENST00000261918,;SEMA7A,missense_variant,p.Thr266Ala,ENST00000542748,;SEMA7A,missense_variant,p.Thr417Ala,ENST00000543145,;SEMA7A,downstream_gene_variant,,ENST00000567345,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	1840	226	178	SUCCESS
SEMA7A	8482	.	GRCh37	15	74706913	74706913	+	synonymous_variant	Silent	SNP	G	G	T	rs749307413	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	82	244	0	ENST00000261918.4:c.1269C>A	p.Thr423=	p.T423=	ENST00000261918	NM_003612.3	423	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS10262.1	1269	RADIA|MUTECT|MUSE	.	TGAAAGGTCTC	NONE	.	.	PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	.	.	ENSP00000261918	.	10/14	.	.	.	.	.	.	.	.	rs749307413	10/14	PASS	ENST00000261918	Transcript	1	.	ENSG00000138623	10741	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEM7A_HUMAN	SEMA7A	HGNC	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN	.	UPI00000312F0	SNV	SEMA7A,synonymous_variant,p.%3D,ENST00000261918,;SEMA7A,synonymous_variant,p.%3D,ENST00000542748,;SEMA7A,synonymous_variant,p.%3D,ENST00000543145,;SEMA7A,downstream_gene_variant,,ENST00000567345,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	1818	244	187	SUCCESS
CSK	1445	.	GRCh37	15	75094691	75094691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	44	0	ENST00000220003.9:c.1190C>A	p.Pro397His	p.P397H	ENST00000220003	NM_004383.2	397	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS10269.1	1190	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCCTCGGG	NONE	.	.	Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24418:SF52,hmmpanther:PTHR24418,PROSITE_profiles:PS50011	.	.	ENSP00000220003	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000220003	Transcript	.	.	ENSG00000103653	2444	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0.03)	.	CSK_HUMAN	CSK	HGNC	Q53EL3_HUMAN,H3BUM9_HUMAN,H3BU69_HUMAN,H3BN15_HUMAN,B4DMZ0_HUMAN,B2R6Q4_HUMAN	.	UPI0000128541	SNV	CSK,missense_variant,p.Pro397His,ENST00000439220,;CSK,missense_variant,p.Pro397His,ENST00000220003,;CSK,missense_variant,p.Pro397His,ENST00000567571,;CSK,missense_variant,p.Pro397His,ENST00000309470,;CSK,downstream_gene_variant,,ENST00000567123,;CSK,downstream_gene_variant,,ENST00000569915,;CSK,downstream_gene_variant,,ENST00000569462,;CSK,non_coding_transcript_exon_variant,,ENST00000568329,;CSK,non_coding_transcript_exon_variant,,ENST00000564216,;CSK,non_coding_transcript_exon_variant,,ENST00000563010,;CSK,downstream_gene_variant,,ENST00000562066,;CSK,downstream_gene_variant,,ENST00000567135,;CSK,downstream_gene_variant,,ENST00000566464,;CSK,downstream_gene_variant,,ENST00000563894,;CSK,downstream_gene_variant,,ENST00000569321,;	1919	44	47	SUCCESS
RP11-303E16.3	0	.	GRCh37	16	81066308	81066308	+	intron_variant,non_coding_transcript_variant	Intron	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	53	0	ENST00000561808.1:n.238+2052A>T		p.*80*	ENST00000561808				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42199.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGATGTCAC	NONE	.	.	.	.	.	ENSP00000377007	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000393335	Transcript	.	.	ENSG00000166451	30873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CENPN_HUMAN	CENPN	HGNC	H3BMC7_HUMAN	.	UPI000059D3C7	SNV	CENPN,3_prime_UTR_variant,,ENST00000393335,;CENPN,downstream_gene_variant,,ENST00000428963,;ATMIN,upstream_gene_variant,,ENST00000299575,;CENPN,downstream_gene_variant,,ENST00000439957,;CENPN,downstream_gene_variant,,ENST00000305850,;ATMIN,upstream_gene_variant,,ENST00000564241,;ATMIN,upstream_gene_variant,,ENST00000565237,;RP11-303E16.3,intron_variant,,ENST00000561808,;RP11-303E16.3,intron_variant,,ENST00000566390,;RP11-303E16.2,downstream_gene_variant,,ENST00000566639,;ATMIN,upstream_gene_variant,,ENST00000539819,;ATMIN,upstream_gene_variant,,ENST00000562969,;	1145	53	69	SUCCESS
MYH1	4619	.	GRCh37	17	10404770	10404770	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	46	91	0	ENST00000226207.5:c.3395C>T	p.Ser1132Phe	p.S1132F	ENST00000226207	NM_005963.3	1132	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS11155.1	3395	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGAGGCC	NONE	.	.	Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Pfam_domain:PF01576,Superfamily_domains:SSF90257	.	.	ENSP00000226207	.	27/40	.	.	.	.	.	.	.	.	.	27/40	PASS	ENST00000226207	Transcript	.	.	ENSG00000109061	7567	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	deleterious(0.03)	.	MYH1_HUMAN	MYH1	HGNC	.	.	UPI000013C891	SNV	MYH1,missense_variant,p.Ser1132Phe,ENST00000226207,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	3490	91	58	SUCCESS
MYH2	4620	.	GRCh37	17	10438678	10438678	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs926577766	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	54	140	0	ENST00000245503.5:c.1979A>G	p.Asn660Ser	p.N660S	ENST00000245503	NM_017534.5	660	aAt/aGt	0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS11156.1	1979	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAATTCTCC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,PROSITE_profiles:PS51456	.	.	ENSP00000245503	.	18/40	.	.	.	.	.	.	.	.	.	18/40	PASS	ENST00000245503	Transcript	.	.	ENSG00000125414	7572	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.139)	.	tolerated(0.13)	.	MYH2_HUMAN	MYH2	HGNC	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN	.	UPI000012FB6C	SNV	MYH2,missense_variant,p.Asn660Ser,ENST00000245503,;MYH2,missense_variant,p.Asn660Ser,ENST00000397183,;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,downstream_gene_variant,,ENST00000581304,;	2364	140	63	SUCCESS
MYOCD	93649	.	GRCh37	17	12649346	12649346	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs750753749	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	48	97	0	ENST00000343344.4:c.1082C>A	p.Ser361Tyr	p.S361Y	ENST00000343344		361	tCt/tAt	0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS54091.1	1082	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTCTTTCA	NONE	.	.	hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	.	.	ENSP00000401678	.	9/14	.	.	.	.	.	.	.	.	rs750753749	9/14	PASS	ENST00000425538	Transcript	.	.	ENSG00000141052	16067	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.01)	.	MYCD_HUMAN	MYOCD	HGNC	.	.	UPI000022A2E2	SNV	MYOCD,missense_variant,p.Ser361Tyr,ENST00000343344,;MYOCD,missense_variant,p.Ser66Tyr,ENST00000443061,;MYOCD,missense_variant,p.Ser361Tyr,ENST00000425538,;AC005358.1,missense_variant,p.Ser265Tyr,ENST00000609971,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	1282	97	60	SUCCESS
LGALS9	3965	.	GRCh37	17	25975942	25975942	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs373192382	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	449	370	975	0	ENST00000395473.2:c.1002G>T	p.Arg334Ser	p.R334S	ENST00000395473	NM_009587.2	334	agG/agT	0	A:0	.	.	.	.	T	R/S	protein_coding	YES	CCDS11222.1	1002	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGGAACCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	.	A:0.0001	ENSP00000378856	.	11/11	.	.	.	.	.	.	.	.	rs373192382	11/11	PASS	ENST00000395473	Transcript	.	.	ENSG00000168961	6570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.11)	.	LEG9_HUMAN	LGALS9	HGNC	K7EPS0_HUMAN	.	UPI000012E437	SNV	LGALS9,missense_variant,p.Arg334Ser,ENST00000395473,;LGALS9,missense_variant,p.Arg302Ser,ENST00000302228,;LGALS9,missense_variant,p.Arg290Ser,ENST00000310394,;LGALS9,3_prime_UTR_variant,,ENST00000413914,;LGALS9,3_prime_UTR_variant,,ENST00000581710,;LGALS9,3_prime_UTR_variant,,ENST00000313648,;LGALS9,downstream_gene_variant,,ENST00000577392,;LGALS9,downstream_gene_variant,,ENST00000578944,;LGALS9,downstream_gene_variant,,ENST00000584661,;LGALS9,3_prime_UTR_variant,,ENST00000467111,;LGALS9,non_coding_transcript_exon_variant,,ENST00000486774,;LGALS9,non_coding_transcript_exon_variant,,ENST00000481514,;LGALS9,downstream_gene_variant,,ENST00000584386,;LGALS9,downstream_gene_variant,,ENST00000580779,;NOS2P1,downstream_gene_variant,,ENST00000580780,;	2470	975	820	SUCCESS
FNDC8	54752	.	GRCh37	17	33448911	33448911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	43	125	0	ENST00000158009.5:c.199A>G	p.Ile67Val	p.I67V	ENST00000158009	NM_017559.2	67	Atc/Gtc	0	.	.	.	.	.	G	I/V	protein_coding	YES	CCDS11290.1	199	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCATCAAC	NONE	.	.	hmmpanther:PTHR32430	.	.	ENSP00000158009	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000158009	Transcript	.	.	ENSG00000073598	25286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.113)	.	tolerated_low_confidence(0.07)	.	FNDC8_HUMAN	FNDC8	HGNC	.	.	UPI000006D671	SNV	FNDC8,missense_variant,p.Ile67Val,ENST00000158009,;RAD51L3-RFFL,upstream_gene_variant,,ENST00000591723,;RAD51D,upstream_gene_variant,,ENST00000360276,;RAD51D,upstream_gene_variant,,ENST00000357906,;RAD51D,upstream_gene_variant,,ENST00000590016,;RAD51D,upstream_gene_variant,,ENST00000335858,;RAD51L3-RFFL,upstream_gene_variant,,ENST00000592181,;RAD51D,upstream_gene_variant,,ENST00000587405,;RAD51D,upstream_gene_variant,,ENST00000590631,;RAD51D,upstream_gene_variant,,ENST00000592577,;RAD51D,upstream_gene_variant,,ENST00000460118,;RAD51L3-RFFL,upstream_gene_variant,,ENST00000593039,;RAD51D,upstream_gene_variant,,ENST00000394589,;RAD51D,upstream_gene_variant,,ENST00000345365,;RAD51D,upstream_gene_variant,,ENST00000590380,;RAD51D,upstream_gene_variant,,ENST00000587982,;RAD51D,upstream_gene_variant,,ENST00000415064,;RAD51D,upstream_gene_variant,,ENST00000585982,;RAD51D,upstream_gene_variant,,ENST00000592430,;RAD51D,upstream_gene_variant,,ENST00000587977,;RAD51D,upstream_gene_variant,,ENST00000586210,;RAD51D,upstream_gene_variant,,ENST00000589506,;RAD51D,upstream_gene_variant,,ENST00000586186,;RAD51D,upstream_gene_variant,,ENST00000586044,;RAD51D,upstream_gene_variant,,ENST00000585947,;RAD51D,upstream_gene_variant,,ENST00000588594,;RAD51D,upstream_gene_variant,,ENST00000592850,;RAD51D,upstream_gene_variant,,ENST00000585343,;RAD51D,upstream_gene_variant,,ENST00000592928,;RAD51D,upstream_gene_variant,,ENST00000588372,;	314	126	101	SUCCESS
NBR1	4077	.	GRCh37	17	41346472	41346472	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759713731	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	106	270	0	ENST00000341165.6:c.1630G>A	p.Glu544Lys	p.E544K	ENST00000341165	NM_031862.2	544	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS45694.1	1630	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTGAGAGG	NONE	.	.	hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1	.	.	ENSP00000411250	.	13/21	.	.	.	.	.	.	.	.	rs759713731	13/21	PASS	ENST00000422280	Transcript	.	.	ENSG00000188554	6746	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.03)	.	tolerated(0.08)	.	NBR1_HUMAN	NBR1	HGNC	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN	.	UPI0000161BF3	SNV	NBR1,missense_variant,p.Glu544Lys,ENST00000422280,;NBR1,missense_variant,p.Glu544Lys,ENST00000589872,;NBR1,missense_variant,p.Glu544Lys,ENST00000389312,;NBR1,missense_variant,p.Glu523Lys,ENST00000542611,;NBR1,missense_variant,p.Glu544Lys,ENST00000341165,;NBR1,missense_variant,p.Glu544Lys,ENST00000590996,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;	2089	271	237	SUCCESS
KIF19	124602	.	GRCh37	17	72349069	72349069	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	31	93	0	ENST00000389916.4:c.2090C>G	p.Ala697Gly	p.A697G	ENST00000389916	NM_153209.3	697	gCc/gGc	0	.	.	.	.	.	G	A/G	protein_coding	YES	CCDS32718.2	2090	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCGCCCTCC	NONE	.	.	hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402	.	.	ENSP00000374566	.	15/20	.	.	.	.	.	.	.	.	.	15/20	PASS	ENST00000389916	Transcript	.	.	ENSG00000196169	26735	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.028)	.	tolerated(0.26)	.	KIF19_HUMAN	KIF19	HGNC	.	.	UPI0000F0A553	SNV	KIF19,missense_variant,p.Ala697Gly,ENST00000389916,;AC103809.2,upstream_gene_variant,,ENST00000599136,;BTBD17,downstream_gene_variant,,ENST00000375366,;KIF19,downstream_gene_variant,,ENST00000551294,;KIF19,downstream_gene_variant,,ENST00000549637,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000547389,;	2228	93	126	SUCCESS
EVPL	2125	.	GRCh37	17	74004527	74004527	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	76	59	0	ENST00000301607.3:c.4759C>G	p.Gln1587Glu	p.Q1587E	ENST00000301607	NM_001988.2	1587	Cag/Gag	0	.	.	.	.	.	C	Q/E	protein_coding	YES	CCDS11737.1	4759	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGGTCCC	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	.	.	ENSP00000301607	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000301607	Transcript	.	.	ENSG00000167880	3503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.257)	.	tolerated(1)	.	EVPL_HUMAN	EVPL	HGNC	K7EQ87_HUMAN	.	UPI000013E730	SNV	EVPL,missense_variant,p.Gln1609Glu,ENST00000586740,;EVPL,missense_variant,p.Gln1587Glu,ENST00000301607,;EVPL,upstream_gene_variant,,ENST00000589231,;CDK3,downstream_gene_variant,,ENST00000448471,;CDK3,downstream_gene_variant,,ENST00000425876,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;EVPL,downstream_gene_variant,,ENST00000593037,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;	5013	59	172	SUCCESS
BAIAP2	10458	.	GRCh37	17	79089716	79089716	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	41	0	ENST00000321300.6:c.1583+99C>T		p.*528*	ENST00000321300	NM_001144888.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11775.1	.	MUTECT|MUSE|VARSCANS	.	CTGTGCGTTCC	NONE	.	.	.	.	.	ENSP00000316338	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321300	Transcript	.	.	ENSG00000175866	947	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BAIP2_HUMAN	BAIAP2	HGNC	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN	.	UPI000000D762	SNV	BAIAP2,3_prime_UTR_variant,,ENST00000575245,;BAIAP2,3_prime_UTR_variant,,ENST00000392411,;BAIAP2,3_prime_UTR_variant,,ENST00000428708,;BAIAP2,3_prime_UTR_variant,,ENST00000435091,;BAIAP2,3_prime_UTR_variant,,ENST00000572498,;BAIAP2,intron_variant,,ENST00000321300,;AATK,downstream_gene_variant,,ENST00000326724,;AATK,downstream_gene_variant,,ENST00000417379,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000576225,;AATK,downstream_gene_variant,,ENST00000573469,;AATK,downstream_gene_variant,,ENST00000374792,;AATK,downstream_gene_variant,,ENST00000570932,;	.	41	51	SUCCESS
EPG5	57724	.	GRCh37	18	43505857	43505857	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	142	181	0	ENST00000282041.5:c.2565C>G	p.Tyr855Ter	p.Y855*	ENST00000282041	NM_020964.2	855	taC/taG	0	.	.	.	.	.	C	Y/*	protein_coding	YES	CCDS11926.2	2565	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAAGTATAG	NONE	.	.	hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	.	.	ENSP00000282041	.	14/44	.	.	.	.	.	.	.	.	.	14/44	PASS	ENST00000282041	Transcript	.	.	ENSG00000152223	29331	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPG5_HUMAN	EPG5	HGNC	Q9BYJ3_HUMAN,Q9BTI0_HUMAN	.	UPI00004F6F8A	SNV	EPG5,stop_gained,p.Tyr855Ter,ENST00000282041,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	2600	181	214	SUCCESS
ABCA7	10347	.	GRCh37	19	1062215	1062215	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs1391686200	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	28	97	0	ENST00000263094.6:c.5615G>T	p.Cys1872Phe	p.C1872F	ENST00000263094	NM_019112.3	1872	tGc/tTc	0	.	.	.	.	.	T	C/F	protein_coding	YES	CCDS12055.1	5615	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTGCCCTC	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000263094	.	42/47	.	.	.	.	.	.	.	.	.	42/47	PASS	ENST00000263094	Transcript	.	.	ENSG00000064687	37	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.959)	.	deleterious(0.01)	.	ABCA7_HUMAN	ABCA7	HGNC	E9PL63_HUMAN	.	UPI000013D3A4	SNV	ABCA7,missense_variant,p.Cys1872Phe,ENST00000433129,;ABCA7,missense_variant,p.Cys317Phe,ENST00000525073,;ABCA7,missense_variant,p.Cys1872Phe,ENST00000263094,;ABCA7,missense_variant,p.Cys1734Phe,ENST00000435683,;HMHA1,upstream_gene_variant,,ENST00000313093,;HMHA1,upstream_gene_variant,,ENST00000587186,;HMHA1,upstream_gene_variant,,ENST00000539243,;ABCA7,upstream_gene_variant,,ENST00000524383,;ABCA7,upstream_gene_variant,,ENST00000531478,;ABCA7,downstream_gene_variant,,ENST00000532194,;ABCA7,downstream_gene_variant,,ENST00000529442,;ABCA7,upstream_gene_variant,,ENST00000525939,;	5846	97	64	SUCCESS
SLC27A1	376497	.	GRCh37	19	17597668	17597668	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs1485558386	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	68	0	ENST00000252595.7:c.464C>A	p.Ala155Asp	p.A155D	ENST00000252595	NM_198580.1	155	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS32953.1	464	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCGCGC	NONE	.	.	hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF148,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	.	.	ENSP00000252595	.	2/12	.	.	.	.	.	.	.	.	.	2/12	PASS	ENST00000252595	Transcript	.	.	ENSG00000130304	10995	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.873)	.	deleterious(0)	.	S27A1_HUMAN	SLC27A1	HGNC	.	.	UPI0000038E7F	SNV	SLC27A1,missense_variant,p.Ala155Asp,ENST00000442725,;SLC27A1,missense_variant,p.Ala155Asp,ENST00000252595,;SLC27A1,5_prime_UTR_variant,,ENST00000598424,;CTD-3131K8.2,downstream_gene_variant,,ENST00000596643,;CTD-3131K8.2,downstream_gene_variant,,ENST00000598141,;SLC27A1,missense_variant,p.Ala155Asp,ENST00000600297,;SLC27A1,missense_variant,p.Ala155Asp,ENST00000600277,;SLC27A1,intron_variant,,ENST00000599380,;SLC27A1,upstream_gene_variant,,ENST00000593701,;	561	68	37	SUCCESS
GNA15	2769	.	GRCh37	19	3155884	3155884	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	42	103	0	ENST00000262958.3:c.678G>T	p.Val226=	p.V226=	ENST00000262958	NM_002068.2	226	gtG/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS12104.1	678	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACGTGATCGC	BUFFER|p.F223F|c.669C>T|3	.	.	hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF50,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00318	.	.	ENSP00000262958	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000262958	Transcript	.	.	ENSG00000060558	4383	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNA15_HUMAN	GNA15	HGNC	.	.	UPI000013D36D	SNV	GNA15,synonymous_variant,p.%3D,ENST00000262958,;AC005264.2,upstream_gene_variant,,ENST00000587587,;GNA15,downstream_gene_variant,,ENST00000592455,;GNA15,downstream_gene_variant,,ENST00000586082,;	936	103	72	SUCCESS
MEGF8	1954	.	GRCh37	19	42830443	42830443	+	synonymous_variant	Silent	SNP	C	C	T	rs777922711	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	119	313	0	ENST00000251268.6:c.48C>T	p.Ala16=	p.A16=	ENST00000251268		16	gcC/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS12604.2	48	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCCGTGCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000334219	.	1/41	.	.	.	.	.	.	.	.	rs777922711	1/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,synonymous_variant,p.%3D,ENST00000334370,;MEGF8,synonymous_variant,p.%3D,ENST00000251268,;TMEM145,downstream_gene_variant,,ENST00000598766,;TMEM145,downstream_gene_variant,,ENST00000301204,;TMEM145,downstream_gene_variant,,ENST00000601644,;	683	313	249	SUCCESS
CACNG8	59283	.	GRCh37	19	54485510	54485510	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	28	69	0	ENST00000270458.2:c.685G>T	p.Glu229Ter	p.E229*	ENST00000270458	NM_031895.5	229	Gag/Tag	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS33104.1	685	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCGAGCGC	NONE	.	.	hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF2	.	.	ENSP00000270458	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000270458	Transcript	.	.	ENSG00000142408	13628	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCG8_HUMAN	CACNG8	HGNC	.	.	UPI000013D88B	SNV	CACNG8,stop_gained,p.Glu229Ter,ENST00000270458,;MIR935,upstream_gene_variant,,ENST00000401179,;	788	69	32	SUCCESS
ZIM2	23619	.	GRCh37	19	57286539	57286539	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	54	86	0	ENST00000593711.1:c.1101C>A	p.Leu367=	p.L367=	ENST00000593711		367	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS33123.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATGAGATA	NONE	.	.	PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF110,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	.	.	ENSP00000375589	.	12/12	.	.	.	.	.	.	.	.	COSM418004	12/12	PASS	ENST00000391708	Transcript	.	.	ENSG00000269699	12875	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	ZIM2_HUMAN	ZIM2	HGNC	.	.	UPI000013C3DF	SNV	ZIM2,synonymous_variant,p.%3D,ENST00000221722,;ZIM2,synonymous_variant,p.%3D,ENST00000601070,;ZIM2,synonymous_variant,p.%3D,ENST00000593711,;ZIM2,synonymous_variant,p.%3D,ENST00000599935,;ZIM2,synonymous_variant,p.%3D,ENST00000391708,;AC006115.3,intron_variant,,ENST00000597946,;AC006115.3,intron_variant,,ENST00000595954,;AC006115.3,intron_variant,,ENST00000594400,;ZIM2,3_prime_UTR_variant,,ENST00000597281,;ZIM2,3_prime_UTR_variant,,ENST00000595671,;ZIM2,downstream_gene_variant,,ENST00000596270,;	1644	86	65	SUCCESS
MUC16	94025	.	GRCh37	19	9049545	9049545	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	rs767782754	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	54	128	1	ENST00000397910.4:c.32086A>T	p.Arg10696Ter	p.R10696*	ENST00000397910	NM_024690.2	10696	Aga/Tga	0	.	.	.	.	.	A	R/*	protein_coding	YES	CCDS54212.1	32086	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTGGGAA	NONE	byFrequency	.	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	.	.	ENSP00000381008	.	5/84	.	.	.	.	.	.	.	.	rs767782754	5/84	PASS	ENST00000397910	Transcript	.	.	ENSG00000181143	15582	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC16	HGNC	F8WE81_HUMAN,B5ME49_HUMAN	.	UPI000065CA24	SNV	MUC16,stop_gained,p.Arg10696Ter,ENST00000397910,;	32290	129	128	SUCCESS
TRMT13	54482	.	GRCh37	1	100605738	100605738	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	rs1453054588	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	65	0	ENST00000370141.2:c.325G>C	p.Val109Leu	p.V109L	ENST00000370141	NM_019083.2	109	Gtt/Ctt	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS765.1	325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGGTTCCA	NONE	.	.	hmmpanther:PTHR12998,hmmpanther:PTHR12998:SF0	.	.	ENSP00000359160	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000370141	Transcript	.	.	ENSG00000122435	25502	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.016)	.	tolerated(0.09)	.	TRM13_HUMAN	TRMT13	HGNC	.	.	UPI000013CAE6	SNV	TRMT13,missense_variant,p.Val109Leu,ENST00000370141,;TRMT13,missense_variant,p.Val78Leu,ENST00000370139,;TRMT13,intron_variant,,ENST00000370143,;TRMT13,upstream_gene_variant,,ENST00000493651,;TRMT13,missense_variant,p.Val109Leu,ENST00000482437,;	331	65	69	SUCCESS
PTCHD2	0	.	GRCh37	1	11596435	11596435	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs780615860	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	23	28	0	ENST00000294484.6:c.3871G>C	p.Val1291Leu	p.V1291L	ENST00000294484	NM_020780.1	1291	Gtg/Ctg	0	.	.	.	.	.	C	V/L	protein_coding	YES	CCDS41247.1	3871	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGTGGCC	NONE	byFrequency	.	Superfamily_domains:SSF82866,Gene3D:2j8sB01,Pfam_domain:PF03176,hmmpanther:PTHR10796:SF49,hmmpanther:PTHR10796	.	.	ENSP00000294484	.	21/21	.	.	.	.	.	.	.	.	rs780615860,COSM2177953,COSM3801388	21/21	PASS	ENST00000294484	Transcript	.	.	ENSG00000204624	29251	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1	.	.	probably_damaging(0.948)	.	deleterious(0.05)	0,1,1	PTHD2_HUMAN	PTCHD2	HGNC	.	.	UPI00001C1D7A	SNV	PTCHD2,missense_variant,p.Arg177Pro,ENST00000304391,;PTCHD2,missense_variant,p.Val1291Leu,ENST00000389575,;PTCHD2,missense_variant,p.Val1291Leu,ENST00000294484,;	4009	28	44	SUCCESS
F5	2153	.	GRCh37	1	169521852	169521852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	44	114	0	ENST00000367797.3:c.1239G>T	p.Met413Ile	p.M413I	ENST00000367797	NM_000130.4	413	atG/atT	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS1281.1	1239	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCATATT	NONE	.	.	hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	.	.	ENSP00000356771	.	8/25	.	.	.	.	.	.	.	.	.	8/25	PASS	ENST00000367797	Transcript	.	.	ENSG00000198734	3542	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated(0.54)	.	FA5_HUMAN	F5	HGNC	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN	.	UPI0000070F01	SNV	F5,missense_variant,p.Met413Ile,ENST00000367796,;F5,missense_variant,p.Met276Ile,ENST00000546081,;F5,missense_variant,p.Met413Ile,ENST00000367797,;	1441	114	169	SUCCESS
ZBTB37	84614	.	GRCh37	1	173840092	173840092	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	50	139	0	ENST00000367701.5:c.729A>G	p.Val243=	p.V243=	ENST00000367701		243	gtA/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS44278.1	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGTACACAT	NONE	.	.	hmmpanther:PTHR24375:SF2,hmmpanther:PTHR24375	.	.	ENSP00000356674	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000367701	Transcript	.	.	ENSG00000185278	28365	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT37_HUMAN	ZBTB37	HGNC	.	.	UPI0000203C09	SNV	ZBTB37,synonymous_variant,p.%3D,ENST00000367702,;ZBTB37,synonymous_variant,p.%3D,ENST00000427304,;ZBTB37,synonymous_variant,p.%3D,ENST00000367704,;ZBTB37,synonymous_variant,p.%3D,ENST00000432989,;ZBTB37,synonymous_variant,p.%3D,ENST00000367701,;GAS5,upstream_gene_variant,,ENST00000432536,;GAS5,upstream_gene_variant,,ENST00000430245,;GAS5,upstream_gene_variant,,ENST00000454068,;GAS5,upstream_gene_variant,,ENST00000385578,;GAS5,upstream_gene_variant,,ENST00000449289,;GAS5,upstream_gene_variant,,ENST00000363146,;GAS5,upstream_gene_variant,,ENST00000414075,;GAS5,upstream_gene_variant,,ENST00000364084,;GAS5,upstream_gene_variant,,ENST00000451607,;GAS5,upstream_gene_variant,,ENST00000452197,;GAS5,upstream_gene_variant,,ENST00000450589,;GAS5,upstream_gene_variant,,ENST00000425771,;GAS5,upstream_gene_variant,,ENST00000448718,;GAS5,upstream_gene_variant,,ENST00000431268,;GAS5,upstream_gene_variant,,ENST00000412059,;GAS5,upstream_gene_variant,,ENST00000455838,;GAS5,upstream_gene_variant,,ENST00000436656,;GAS5,upstream_gene_variant,,ENST00000456812,;GAS5,upstream_gene_variant,,ENST00000456293,;GAS5,upstream_gene_variant,,ENST00000421068,;GAS5,upstream_gene_variant,,ENST00000442067,;GAS5,upstream_gene_variant,,ENST00000436285,;GAS5,upstream_gene_variant,,ENST00000422183,;GAS5,upstream_gene_variant,,ENST00000449589,;GAS5,upstream_gene_variant,,ENST00000416952,;GAS5,upstream_gene_variant,,ENST00000458220,;GAS5,upstream_gene_variant,,ENST00000422008,;GAS5,upstream_gene_variant,,ENST00000443799,;	920	139	160	SUCCESS
SHCBP1L	81626	.	GRCh37	1	182922289	182922289	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	rs201900062	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	45	0	ENST00000367547.3:c.-21G>T		p.*7*	ENST00000367547	NM_030933.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS30955.1	.	MUTECT|MUSE	.	AGGGCCGAGGC	NONE	byCluster|by1000G	.	.	T:0.001	.	ENSP00000356518	T:0	1/10	.	.	.	.	.	.	.	.	rs201900062	1/10	PASS	ENST00000367547	Transcript	.	T:0.0002	ENSG00000157060	16788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	SHP1L_HUMAN	SHCBP1L	HGNC	.	.	UPI000006F7B9	SNV	SHCBP1L,5_prime_UTR_variant,,ENST00000367547,;SHCBP1L,upstream_gene_variant,,ENST00000423786,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,upstream_gene_variant,,ENST00000467208,;SHCBP1L,upstream_gene_variant,,ENST00000497549,;SHCBP1L,upstream_gene_variant,,ENST00000483655,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	217	45	51	SUCCESS
C1orf106	0	.	GRCh37	1	200870236	200870236	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1411235480	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	51	0	ENST00000413687.2:c.469C>T	p.Arg157Trp	p.R157W	ENST00000413687	NM_001142569.2	157	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS44292.1	469	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGCGGCGG	NONE	.	.	hmmpanther:PTHR16093:SF4,hmmpanther:PTHR16093	.	.	ENSP00000392105	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000413687	Transcript	.	.	ENSG00000163362	25599	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.018)	.	tolerated(0.14)	.	CA106_HUMAN	C1orf106	HGNC	E9PK29_HUMAN,C9JAT8_HUMAN	.	UPI0000204714	SNV	C1orf106,missense_variant,p.Arg242Trp,ENST00000367342,;C1orf106,missense_variant,p.Arg157Trp,ENST00000413687,;C1orf106,downstream_gene_variant,,ENST00000532631,;C1orf106,downstream_gene_variant,,ENST00000451872,;C1orf106,upstream_gene_variant,,ENST00000531649,;	830	51	73	SUCCESS
INTS7	25896	.	GRCh37	1	212208857	212208857	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	32	0	ENST00000366994.3:c.-78G>A		p.*26*	ENST00000366994	NM_001199811.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1501.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCTTCTT	NONE	.	.	.	.	.	ENSP00000355961	.	1/20	.	.	.	.	.	.	.	.	.	1/20	PASS	ENST00000366994	Transcript	.	.	ENSG00000143493	24484	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	INT7_HUMAN	INTS7	HGNC	.	.	UPI000006FE2E	SNV	INTS7,5_prime_UTR_variant,,ENST00000366994,;INTS7,5_prime_UTR_variant,,ENST00000366993,;INTS7,5_prime_UTR_variant,,ENST00000440600,;INTS7,5_prime_UTR_variant,,ENST00000366992,;DTL,upstream_gene_variant,,ENST00000542077,;DTL,upstream_gene_variant,,ENST00000366991,;INTS7,non_coding_transcript_exon_variant,,ENST00000469606,;DTL,upstream_gene_variant,,ENST00000475419,;	28	32	32	SUCCESS
TSNAX	7257	.	GRCh37	1	231700450	231700450	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	98	226	0	ENST00000366639.4:c.672T>C	p.Val224=	p.V224=	ENST00000366639	NM_005999.2	224	gtT/gtC	0	.	.	.	.	.	C	V	protein_coding	YES	CCDS1596.1	672	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTTTATGA	NONE	.	.	Superfamily_domains:0047790,Gene3D:1j1jA02,Pfam_domain:PF01997,hmmpanther:PTHR10741,hmmpanther:PTHR10741:SF4	.	.	ENSP00000355599	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000366639	Transcript	.	.	ENSG00000116918	12380	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSNAX_HUMAN	TSNAX	HGNC	Q9NRI2_HUMAN	.	UPI0000137768	SNV	TSNAX,synonymous_variant,p.%3D,ENST00000366639,;TSNAX,downstream_gene_variant,,ENST00000413309,;TSNAX,non_coding_transcript_exon_variant,,ENST00000475168,;TSNAX-DISC1,intron_variant,,ENST00000602885,;TSNAX-DISC1,intron_variant,,ENST00000602956,;TSNAX-DISC1,intron_variant,,ENST00000602634,;TSNAX-DISC1,intron_variant,,ENST00000602567,;TSNAX-DISC1,intron_variant,,ENST00000602962,;	830	226	227	SUCCESS
RYR2	6262	.	GRCh37	1	237794838	237794838	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	46	93	0	ENST00000366574.2:c.6552C>G	p.Ser2184=	p.S2184=	ENST00000366574	NM_001035.2	2184	tcC/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS55691.1	6552	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTCCAAGGT	NONE	.	.	Superfamily_domains:0048280,Pfam_domain:PF01365,Gene3D:1n4kA02,hmmpanther:PTHR13715:SF75,hmmpanther:PTHR13715	.	.	ENSP00000355533	.	42/105	.	.	.	.	.	.	.	.	.	42/105	PASS	ENST00000366574	Transcript	.	.	ENSG00000198626	10484	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RYR2_HUMAN	RYR2	HGNC	H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN	.	UPI0000DD0308	SNV	RYR2,synonymous_variant,p.%3D,ENST00000542537,;RYR2,synonymous_variant,p.%3D,ENST00000366574,;RYR2,synonymous_variant,p.%3D,ENST00000360064,;	6869	93	111	SUCCESS
SMYD3	64754	.	GRCh37	1	246498775	246498775	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	41	58	0	ENST00000388985.4:c.230A>G	p.Lys77Arg	p.K77R	ENST00000388985		77	aAa/aGa	0	.	.	.	.	.	C	K/R	protein_coding	YES	CCDS53486.1	230	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTTCTAT	NONE	.	.	PROSITE_profiles:PS50280,PROSITE_profiles:PS50865,PROSITE_profiles:PS51574,hmmpanther:PTHR12197:SF146,hmmpanther:PTHR12197,PROSITE_patterns:PS01360,Pfam_domain:PF00856,Pfam_domain:PF01753,SMART_domains:SM00317,Superfamily_domains:SSF82199	.	.	ENSP00000373637	.	3/12	.	.	.	.	.	.	.	.	.	3/12	PASS	ENST00000388985	Transcript	.	.	ENSG00000185420	15513	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	tolerated(0.29)	.	SMYD3_HUMAN	SMYD3	HGNC	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN	.	UPI000022AFDA	SNV	SMYD3,missense_variant,p.Lys18Arg,ENST00000453676,;SMYD3,missense_variant,p.Lys18Arg,ENST00000490107,;SMYD3,missense_variant,p.Lys18Arg,ENST00000541742,;SMYD3,missense_variant,p.Lys18Arg,ENST00000455277,;SMYD3,missense_variant,p.Lys77Arg,ENST00000403792,;SMYD3,missense_variant,p.Lys77Arg,ENST00000388985,;SMYD3,splice_region_variant,,ENST00000470863,;SMYD3,splice_region_variant,,ENST00000462422,;	230	58	81	SUCCESS
SEL1L2	80343	.	GRCh37	20	13858206	13858206	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	61	0	ENST00000284951.5:c.986C>A	p.Ala329Glu	p.A329E	ENST00000284951		329	gCa/gAa	0	.	.	.	.	.	T	A/E	protein_coding	YES	CCDS59443.1	986	MUTECT|MUSE	.	CCTTTGCTGCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901	.	.	ENSP00000367312	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000378072	Transcript	.	.	ENSG00000101251	15897	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.995)	.	deleterious(0)	.	SE1L2_HUMAN	SEL1L2	HGNC	C9JNX3_HUMAN	.	UPI000003BCBF	SNV	SEL1L2,missense_variant,p.Ala329Glu,ENST00000284951,;SEL1L2,missense_variant,p.Ala329Glu,ENST00000378072,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;	1068	61	52	SUCCESS
ASXL1	171023	.	GRCh37	20	31024023	31024023	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	34	112	0	ENST00000375687.4:c.3508T>C	p.Leu1170=	p.L1170=	ENST00000375687	NM_015338.5	1170	Tta/Cta	0	.	.	.	.	.	C	L	protein_coding	YES	CCDS13201.1	3508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTTTAAGG	NONE	.	.	hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19	.	.	ENSP00000364839	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000375687	Transcript	1	.	ENSG00000171456	18318	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASXL1_HUMAN	ASXL1	HGNC	.	.	UPI000036702C	SNV	ASXL1,synonymous_variant,p.%3D,ENST00000375687,;ASXL1,synonymous_variant,p.%3D,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;	3932	112	74	SUCCESS
BPIFB6	128859	.	GRCh37	20	31622067	31622067	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	74	0	ENST00000349552.1:c.273G>A	p.Val91=	p.V91=	ENST00000349552	NM_174897.2	91	gtG/gtA	0	.	.	.	.	.	A	V	protein_coding	YES	CCDS13211.1	273	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGTCCAC	NONE	.	.	hmmpanther:PTHR10504:SF71,hmmpanther:PTHR10504,Pfam_domain:PF01273,Gene3D:1ewfA01,Superfamily_domains:SSF55394	.	.	ENSP00000344929	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000349552	Transcript	.	.	ENSG00000167104	16504	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIB6_HUMAN	BPIFB6	HGNC	.	.	UPI000003C8F3	SNV	BPIFB6,synonymous_variant,p.%3D,ENST00000349552,;BPIFB6,3_prime_UTR_variant,,ENST00000542375,;	273	74	44	SUCCESS
CNBD2	140894	.	GRCh37	20	34568456	34568456	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745724867	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	136	0	ENST00000373973.3:c.319G>A	p.Val107Ile	p.V107I	ENST00000373973		107	Gtc/Atc	0	.	.	.	.	.	A	V/I	protein_coding	YES	CCDS13270.1	319	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCGTCTGT	NONE	byFrequency	.	hmmpanther:PTHR23011:SF1,hmmpanther:PTHR23011,Gene3D:2.60.120.10,Superfamily_domains:SSF51206	.	.	ENSP00000340954	.	4/12	.	.	.	.	.	.	.	.	rs745724867	4/12	PASS	ENST00000349339	Transcript	.	.	ENSG00000149646	16145	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	deleterious(0.03)	.	CNBD2_HUMAN	CNBD2	HGNC	.	.	UPI0000367038	SNV	CNBD2,missense_variant,p.Val107Ile,ENST00000373973,;CNBD2,missense_variant,p.Val107Ile,ENST00000538900,;CNBD2,missense_variant,p.Val107Ile,ENST00000349339,;CNBD2,missense_variant,p.Val107Ile,ENST00000463258,;	475	136	101	SUCCESS
NFATC2	4773	.	GRCh37	20	50139710	50139710	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	45	123	0	ENST00000396009.3:c.1070A>C	p.Gln357Pro	p.Q357P	ENST00000396009	NM_001258297.1	357	cAg/cCg	0	.	.	.	.	.	G	Q/P	protein_coding	YES	CCDS13437.1	1070	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTGCTCG	NONE	.	.	hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	.	.	ENSP00000379330	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000396009	Transcript	.	.	ENSG00000101096	7776	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.501)	.	deleterious(0.02)	.	NFAC2_HUMAN	NFATC2	HGNC	B5B2P4_HUMAN,B5B2P3_HUMAN	.	UPI0000167D0F	SNV	NFATC2,missense_variant,p.Gln357Pro,ENST00000396009,;NFATC2,missense_variant,p.Gln337Pro,ENST00000609943,;NFATC2,missense_variant,p.Gln357Pro,ENST00000371564,;NFATC2,missense_variant,p.Gln138Pro,ENST00000609507,;NFATC2,missense_variant,p.Gln138Pro,ENST00000610033,;NFATC2,missense_variant,p.Gln337Pro,ENST00000414705,;	1290	123	87	SUCCESS
NCAM2	4685	.	GRCh37	21	22782603	22782603	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	189	119	230	0	ENST00000400546.1:c.1205A>T	p.Lys402Met	p.K402M	ENST00000400546	NM_004540.3	402	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS42910.1	1205	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAAGTTTA	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF35,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	.	.	ENSP00000383392	.	10/18	.	.	.	.	.	.	.	.	.	10/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.116)	.	deleterious(0)	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,missense_variant,p.Lys402Met,ENST00000400546,;NCAM2,missense_variant,p.Lys260Met,ENST00000284894,;	1454	230	308	SUCCESS
SYNJ1	8867	.	GRCh37	21	34018849	34018849	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1301819492	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	57	161	0	ENST00000433931.2:c.3218C>T	p.Ser1073Leu	p.S1073L	ENST00000433931	NM_003895.3	1073	tCa/tTa	0	.	.	.	.	.	A	S/L	protein_coding	YES	CCDS33539.2	3218	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTGAAGAT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200	.	.	ENSP00000409667	.	24/32	.	.	.	.	.	.	.	.	.	24/32	PASS	ENST00000433931	Transcript	.	.	ENSG00000159082	11503	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.017)	.	tolerated(0.21)	.	.	SYNJ1	HGNC	J3KQV8_HUMAN,C9J1Z6_HUMAN	.	UPI0001A47572	SNV	SYNJ1,missense_variant,p.Ser1073Leu,ENST00000382499,;SYNJ1,missense_variant,p.Ser1029Leu,ENST00000382491,;SYNJ1,missense_variant,p.Ser1073Leu,ENST00000433931,;SYNJ1,missense_variant,p.Ser1034Leu,ENST00000357345,;SYNJ1,missense_variant,p.Ser1034Leu,ENST00000322229,;SYNJ1,upstream_gene_variant,,ENST00000416083,;SYNJ1,upstream_gene_variant,,ENST00000418301,;SYNJ1,upstream_gene_variant,,ENST00000438952,;SYNJ1,downstream_gene_variant,,ENST00000467445,;	3226	161	137	SUCCESS
KRTAP10-9	386676	.	GRCh37	21	46047778	46047778	+	synonymous_variant	Silent	SNP	T	T	G	rs782350496	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	59	0	ENST00000397911.3:c.690T>G	p.Ser230=	p.S230=	ENST00000397911	NM_198690.2	230	tcT/tcG	0	.	.	.	.	.	G	S	protein_coding	YES	CCDS42961.1	690	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCTGTGTC	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18	.	.	ENSP00000381009	.	1/1	.	.	.	.	.	.	.	.	rs782350496	1/1	PASS	ENST00000397911	Transcript	.	.	ENSG00000221837	22971	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR109_HUMAN	KRTAP10-9	HGNC	.	.	UPI000036709D	SNV	KRTAP10-9,synonymous_variant,p.%3D,ENST00000397911,;TSPEAR,intron_variant,,ENST00000323084,;KRTAP10-9,intron_variant,,ENST00000484861,;	739	59	60	SUCCESS
PRAME	23532	.	GRCh37	22	22890574	22890574	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	34	121	0	ENST00000398741.1:c.1445T>G	p.Leu482Arg	p.L482R	ENST00000398741	NM_206955.1	482	cTt/cGt	0	.	.	.	.	.	C	L/R	protein_coding	YES	CCDS13801.1	1445	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTAAGCCAG	NONE	.	.	hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,PIRSF_domain:PIRSF038286	.	.	ENSP00000445675	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000543184	Transcript	.	.	ENSG00000185686	9336	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.667)	.	deleterious(0)	.	PRAME_HUMAN	PRAME	HGNC	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN	.	UPI0000000DDA	SNV	PRAME,missense_variant,p.Leu482Arg,ENST00000398743,;PRAME,missense_variant,p.Leu482Arg,ENST00000398741,;PRAME,missense_variant,p.Leu482Arg,ENST00000402697,;PRAME,missense_variant,p.Leu482Arg,ENST00000543184,;PRAME,missense_variant,p.Leu466Arg,ENST00000539862,;PRAME,missense_variant,p.Leu466Arg,ENST00000424204,;PRAME,missense_variant,p.Leu482Arg,ENST00000405655,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	2308	121	80	SUCCESS
GLI2	2736	.	GRCh37	2	121745822	121745822	+	missense_variant	Missense_Mutation	SNP	G	G	A	.	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	351	267	713	0	ENST00000361492.4:c.2332G>A	p.Gly778Arg	p.G778R	ENST00000361492	NM_005270.4	778	Ggg/Agg	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS33283.1	2332	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCGGGCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	.	.	ENSP00000390436	.	14/14	.	.	.	.	.	.	.	.	COSM3565912	14/14	PASS	ENST00000452319	Transcript	.	.	ENSG00000074047	4318	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.026)	.	tolerated(0.1)	1	GLI2_HUMAN	GLI2	HGNC	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN	.	UPI000053FCB4	SNV	GLI2,missense_variant,p.Gly778Arg,ENST00000452319,;GLI2,missense_variant,p.Gly778Arg,ENST00000361492,;GLI2,missense_variant,p.Gly450Arg,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000445186,;	2392	713	618	SUCCESS
LCT	3938	.	GRCh37	2	136570094	136570094	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	167	77	188	0	ENST00000264162.2:c.2140A>T	p.Asn714Tyr	p.N714Y	ENST00000264162	NM_002299.2	714	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS2178.1	2140	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGTTCACGT	NONE	.	.	Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445	.	.	ENSP00000264162	.	7/17	.	.	.	.	.	.	.	.	.	7/17	PASS	ENST00000264162	Transcript	.	.	ENSG00000115850	6530	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.128)	.	deleterious(0)	.	LPH_HUMAN	LCT	HGNC	.	.	UPI000013D4D2	SNV	LCT,missense_variant,p.Asn714Tyr,ENST00000264162,;Y_RNA,upstream_gene_variant,,ENST00000363794,;LCT,missense_variant,p.Asn146Tyr,ENST00000452974,;	2151	188	244	SUCCESS
SLC4A10	57282	.	GRCh37	2	162757632	162757632	+	intron_variant	Intron	DEL	T	T	-	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	84	0	ENST00000446997.1:c.1442+115del		p.*481*	ENST00000446997	NM_001178015.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS54411.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCTGCTTTTTG	NONE	.	.	.	.	.	ENSP00000393066	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	4	.	MODIFIER	12/26	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	deletion	SLC4A10,intron_variant,,ENST00000446997,;SLC4A10,intron_variant,,ENST00000421911,;SLC4A10,intron_variant,,ENST00000272716,;SLC4A10,intron_variant,,ENST00000535165,;SLC4A10,intron_variant,,ENST00000415876,;SLC4A10,intron_variant,,ENST00000375514,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,intron_variant,,ENST00000446228,;	.	84	135	SUCCESS
PXDN	7837	.	GRCh37	2	1653379	1653379	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs374347969	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	66	163	0	ENST00000252804.4:c.2173G>A	p.Ala725Thr	p.A725T	ENST00000252804	NM_012293.1	725	Gcc/Acc	0	T:0	.	.	.	.	T	A/T	protein_coding	YES	CCDS46221.1	2173	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGGCGGTAC	NONE	byCluster	.	hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10	.	T:0.0001	ENSP00000252804	.	17/23	.	.	.	.	.	.	.	.	rs374347969	17/23	PASS	ENST00000252804	Transcript	.	.	ENSG00000130508	14966	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.201)	.	tolerated(0.11)	.	PXDN_HUMAN	PXDN	HGNC	.	.	UPI00001C1DC2	SNV	PXDN,missense_variant,p.Ala725Thr,ENST00000252804,;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;	2224	163	155	SUCCESS
UBR3	130507	.	GRCh37	2	170936401	170936401	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	60	123	0	ENST00000272793.5:c.5277G>C	p.Gln1759His	p.Q1759H	ENST00000272793		1759	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS2238.2	5277	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCAGTACTA	NONE	.	.	hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	.	.	ENSP00000396068	.	37/39	.	.	.	.	.	.	.	.	.	37/39	PASS	ENST00000418381	Transcript	.	.	ENSG00000144357	30467	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.993)	.	deleterious(0.02)	.	UBR3_HUMAN	UBR3	HGNC	Q68DC1_HUMAN	.	UPI00015FA088	SNV	UBR3,missense_variant,p.Gln580His,ENST00000392631,;UBR3,missense_variant,p.Gln821His,ENST00000392632,;UBR3,missense_variant,p.Gln1759His,ENST00000418381,;UBR3,missense_variant,p.Gln1759His,ENST00000272793,;UBR3,missense_variant,p.Gln459His,ENST00000439681,;UBR3,3_prime_UTR_variant,,ENST00000444475,;UBR3,3_prime_UTR_variant,,ENST00000430321,;UBR3,non_coding_transcript_exon_variant,,ENST00000474426,;UBR3,upstream_gene_variant,,ENST00000484596,;AC092641.2,upstream_gene_variant,,ENST00000440229,;	5277	123	136	SUCCESS
AGPS	8540	.	GRCh37	2	178257523	178257523	+	synonymous_variant	Silent	SNP	G	G	T	rs755836525	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	60	0	ENST00000264167.4:c.6G>T	p.Ala2=	p.A2=	ENST00000264167	NM_003659.3	2	gcG/gcT	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS2275.1	6	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCGGAGGC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000264167	.	1/20	.	.	.	.	.	.	.	.	rs755836525	1/20	PASS	ENST00000264167	Transcript	.	.	ENSG00000018510	327	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADAS_HUMAN	AGPS	HGNC	Q53SN7_HUMAN,Q53SG6_HUMAN,Q53S12_HUMAN,B7Z3Q4_HUMAN	.	UPI00001254E8	SNV	AGPS,synonymous_variant,p.%3D,ENST00000409888,;AGPS,synonymous_variant,p.%3D,ENST00000264167,;NFE2L2,upstream_gene_variant,,ENST00000464747,;AC074286.1,upstream_gene_variant,,ENST00000397057,;AC074286.1,upstream_gene_variant,,ENST00000447413,;AC074286.1,upstream_gene_variant,,ENST00000456746,;	152	60	56	SUCCESS
OSBPL6	114880	.	GRCh37	2	179197657	179197657	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	75	156	0	ENST00000190611.4:c.546T>C	p.Tyr182=	p.Y182=	ENST00000190611	NM_032523.3	182	taT/taC	0	.	.	.	.	.	C	Y	protein_coding	YES	CCDS56150.1	546	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTATCGTCA	NONE	.	.	Superfamily_domains:SSF50729,SMART_domains:SM00233,hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972	.	.	ENSP00000376293	.	8/26	.	.	.	.	.	.	.	.	.	8/26	PASS	ENST00000392505	Transcript	.	.	ENSG00000079156	16388	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSBL6_HUMAN	OSBPL6	HGNC	.	.	UPI0000E5A29F	SNV	OSBPL6,synonymous_variant,p.%3D,ENST00000409631,;OSBPL6,synonymous_variant,p.%3D,ENST00000409045,;OSBPL6,synonymous_variant,p.%3D,ENST00000315022,;OSBPL6,synonymous_variant,p.%3D,ENST00000359685,;OSBPL6,synonymous_variant,p.%3D,ENST00000392505,;OSBPL6,synonymous_variant,p.%3D,ENST00000190611,;OSBPL6,synonymous_variant,p.%3D,ENST00000357080,;OSBPL6,downstream_gene_variant,,ENST00000477097,;	1090	156	187	SUCCESS
TTN	7273	.	GRCh37	2	179479290	179479290	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	37	83	0	ENST00000591111.1:c.44028T>A	p.Thr14676=	p.T14676=	ENST00000591111		14676	acT/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS59435.1	48951	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATAGTCAC	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF6,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	.	.	ENSP00000467141	.	261/363	.	.	.	.	.	.	.	.	.	261/363	PASS	ENST00000589042	Transcript	.	.	ENSG00000155657	12403	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TITIN_HUMAN	TTN	HGNC	C9JQJ2_HUMAN,A2TKE6_HUMAN	.	UPI000264F4A1	SNV	TTN,synonymous_variant,p.%3D,ENST00000359218,;TTN,synonymous_variant,p.%3D,ENST00000591111,;TTN,synonymous_variant,p.%3D,ENST00000589042,;TTN,synonymous_variant,p.%3D,ENST00000342992,;TTN,synonymous_variant,p.%3D,ENST00000342175,;TTN,synonymous_variant,p.%3D,ENST00000460472,;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;	49176	83	100	SUCCESS
BARD1	580	.	GRCh37	2	215674279	215674279	+	synonymous_variant	Silent	SNP	C	C	A	rs769204862	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	42	84	0	ENST00000260947.4:c.15G>T	p.Arg5=	p.R5=	ENST00000260947	NM_000465.2	5	cgG/cgT	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS2397.1	15	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCCGATT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171	.	.	ENSP00000260947	.	1/11	.	.	.	.	.	.	.	.	rs769204862	1/11	PASS	ENST00000260947	Transcript	.	.	ENSG00000138376	952	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BARD1_HUMAN	BARD1	HGNC	.	.	UPI000013D11D	SNV	BARD1,synonymous_variant,p.%3D,ENST00000421162,;BARD1,synonymous_variant,p.%3D,ENST00000260947,;BARD1,5_prime_UTR_variant,,ENST00000449967,;AC072062.1,upstream_gene_variant,,ENST00000607412,;BARD1,non_coding_transcript_exon_variant,,ENST00000471787,;BARD1,synonymous_variant,p.%3D,ENST00000455743,;BARD1,non_coding_transcript_exon_variant,,ENST00000479904,;	150	84	110	SUCCESS
TIA1	7072	.	GRCh37	2	70443879	70443879	+	intron_variant	Intron	SNP	A	A	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	18	0	ENST00000433529.2:c.583+139T>G		p.*195*	ENST00000433529	NM_022173.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1901.1	.	MUTECT|MUSE	.	AAACTAAGTAC	NONE	.	.	.	.	.	ENSP00000401371	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000433529	Transcript	.	.	ENSG00000116001	11802	.	.	MODIFIER	8/12	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIA1_HUMAN	TIA1	HGNC	F8WE16_HUMAN	.	UPI0000410EF5	SNV	TIA1,splice_region_variant,,ENST00000454815,;TIA1,3_prime_UTR_variant,,ENST00000416149,;TIA1,intron_variant,,ENST00000433529,;TIA1,intron_variant,,ENST00000415783,;TIA1,intron_variant,,ENST00000282574,;TIA1,intron_variant,,ENST00000445587,;TIA1,splice_region_variant,,ENST00000468787,;C2orf42,intron_variant,,ENST00000470096,;TIA1,intron_variant,,ENST00000482876,;TIA1,splice_region_variant,,ENST00000497672,;TIA1,intron_variant,,ENST00000477415,;TIA1,intron_variant,,ENST00000496096,;TIA1,intron_variant,,ENST00000484065,;TIA1,upstream_gene_variant,,ENST00000495774,;TIA1,upstream_gene_variant,,ENST00000486392,;TIA1,downstream_gene_variant,,ENST00000474699,;TIA1,downstream_gene_variant,,ENST00000474809,;	.	18	14	SUCCESS
RAB11FIP5	26056	.	GRCh37	2	73316478	73316478	+	intron_variant	Intron	SNP	C	C	T	rs764271777	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	24	0	ENST00000258098.6:c.432-35G>A		p.*144*	ENST00000258098	NM_015470.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1923.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCACGGGCC	NONE	.	.	.	.	.	ENSP00000258098	.	.	.	.	.	.	.	.	.	.	rs764271777	.	PASS	ENST00000258098	Transcript	.	.	ENSG00000135631	24845	.	.	MODIFIER	1/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFIP5_HUMAN	RAB11FIP5	HGNC	Q53T28_HUMAN,Q2Z1P3_HUMAN	.	UPI000007079C	SNV	RAB11FIP5,intron_variant,,ENST00000258098,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,intron_variant,,ENST00000475951,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;	.	24	17	SUCCESS
PROM2	150696	.	GRCh37	2	95941842	95941842	+	synonymous_variant	Silent	SNP	C	C	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	102	0	ENST00000317620.9:c.459C>A	p.Ala153=	p.A153=	ENST00000317620	NM_001165978.1	153	gcC/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS2012.1	459	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCCTCAT	NONE	.	.	Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	.	.	ENSP00000318270	.	3/24	.	.	.	.	.	.	.	.	.	3/24	PASS	ENST00000317620	Transcript	.	.	ENSG00000155066	20685	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROM2_HUMAN	PROM2	HGNC	.	.	UPI0000071157	SNV	PROM2,synonymous_variant,p.%3D,ENST00000317620,;PROM2,synonymous_variant,p.%3D,ENST00000542147,;PROM2,synonymous_variant,p.%3D,ENST00000403131,;PROM2,synonymous_variant,p.%3D,ENST00000317668,;PROM2,intron_variant,,ENST00000463580,;PROM2,downstream_gene_variant,,ENST00000477767,;PROM2,upstream_gene_variant,,ENST00000497110,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;PROM2,upstream_gene_variant,,ENST00000478295,;	592	102	80	SUCCESS
UMPS	7372	.	GRCh37	3	124449275	124449275	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	51	0	ENST00000232607.2:c.-44C>T		p.*15*	ENST00000232607	NM_000373.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3029.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCCCGGG	NONE	.	.	.	.	.	ENSP00000232607	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000232607	Transcript	.	.	ENSG00000114491	12563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UMPS_HUMAN	UMPS	HGNC	B5LY64_HUMAN,A8K5J1_HUMAN	.	UPI0000001223	SNV	UMPS,5_prime_UTR_variant,,ENST00000232607,;UMPS,upstream_gene_variant,,ENST00000536109,;UMPS,upstream_gene_variant,,ENST00000538242,;KALRN,downstream_gene_variant,,ENST00000291478,;UMPS,upstream_gene_variant,,ENST00000413078,;MIR544B,upstream_gene_variant,,ENST00000582372,;RP11-71H17.7,downstream_gene_variant,,ENST00000568966,;UMPS,upstream_gene_variant,,ENST00000474588,;UMPS,upstream_gene_variant,,ENST00000462091,;UMPS,upstream_gene_variant,,ENST00000479719,;UMPS,upstream_gene_variant,,ENST00000497791,;UMPS,upstream_gene_variant,,ENST00000467167,;UMPS,upstream_gene_variant,,ENST00000460034,;RP11-71H17.1,downstream_gene_variant,,ENST00000475510,;	63	51	51	SUCCESS
MED12L	116931	.	GRCh37	3	150876484	150876484	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	101	126	0	ENST00000474524.1:c.735G>A	p.Met245Ile	p.M245I	ENST00000474524	NM_053002.4	245	atG/atA	0	.	.	.	.	.	A	M/I	protein_coding	YES	CCDS33876.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGTTAGA	NONE	.	.	hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5	.	.	ENSP00000417235	.	6/43	.	.	.	.	.	.	.	.	.	6/43	PASS	ENST00000474524	Transcript	.	.	ENSG00000144893	16050	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.23)	.	deleterious(0.01)	.	MD12L_HUMAN	MED12L	HGNC	.	.	UPI000020A46B	SNV	MED12L,missense_variant,p.Met245Ile,ENST00000474524,;MED12L,missense_variant,p.Met245Ile,ENST00000422248,;MED12L,missense_variant,p.Met245Ile,ENST00000273432,;MED12L,missense_variant,p.Met245Ile,ENST00000309237,;	773	126	174	SUCCESS
SCN11A	11280	.	GRCh37	3	38962724	38962724	+	synonymous_variant	Silent	SNP	G	G	T	.	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	71	146	1	ENST00000302328.3:c.735C>A	p.Ala245=	p.A245=	ENST00000302328	NM_014139.2	245	gcC/gcA	0	.	.	.	.	.	T	A	protein_coding	YES	CCDS33737.1	735	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAGGCCCC	BUFFER|p.R248C|c.742C>T|3	.	.	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Pfam_domain:PF00520,Superfamily_domains:SSF81324	.	.	ENSP00000307599	.	6/26	.	.	.	.	.	.	.	.	COSM480069	6/26	PASS	ENST00000302328	Transcript	.	.	ENSG00000168356	10583	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	SCNBA_HUMAN	SCN11A	HGNC	.	.	UPI000006CCD7	SNV	SCN11A,synonymous_variant,p.%3D,ENST00000450244,;SCN11A,synonymous_variant,p.%3D,ENST00000302328,;SCN11A,synonymous_variant,p.%3D,ENST00000444237,;SCN11A,synonymous_variant,p.%3D,ENST00000456224,;	934	147	191	SUCCESS
ITPR1	3708	.	GRCh37	3	4716014	4716014	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	10	100	0	ENST00000354582.6:c.2585A>T	p.Lys862Met	p.K862M	ENST00000354582		862	aAg/aTg	0	.	.	.	.	.	T	K/M	protein_coding	YES	CCDS54551.1	2540	MUTECT|MUSE|VARSCANS	.	GAATAAGCTTA	NONE	.	.	hmmpanther:PTHR13715:SF52,hmmpanther:PTHR13715	.	.	ENSP00000306253	.	21/61	.	.	.	.	.	.	.	.	.	21/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.998)	.	deleterious(0.01)	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,missense_variant,p.Lys862Met,ENST00000423119,;ITPR1,missense_variant,p.Lys847Met,ENST00000456211,;ITPR1,missense_variant,p.Lys862Met,ENST00000357086,;ITPR1,missense_variant,p.Lys847Met,ENST00000302640,;ITPR1,missense_variant,p.Lys847Met,ENST00000443694,;ITPR1,missense_variant,p.Lys862Met,ENST00000354582,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,downstream_gene_variant,,ENST00000477577,;	2890	100	110	SUCCESS
SCAP	22937	.	GRCh37	3	47459072	47459072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs997089172	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	105	237	0	ENST00000265565.5:c.2692C>T	p.Arg898Trp	p.R898W	ENST00000265565	NM_012235.2	898	Cgg/Tgg	0	.	.	.	.	.	A	R/W	protein_coding	YES	CCDS2755.2	2692	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCGGTGCC	NONE	.	.	.	.	.	ENSP00000265565	.	17/23	.	.	.	.	.	.	.	.	.	17/23	PASS	ENST00000265565	Transcript	.	.	ENSG00000114650	30634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0.01)	.	SCAP_HUMAN	SCAP	HGNC	D6RA39_HUMAN,C9JQ35_HUMAN	.	UPI0000135624	SNV	SCAP,missense_variant,p.Arg505Trp,ENST00000545718,;SCAP,missense_variant,p.Arg642Trp,ENST00000441517,;SCAP,missense_variant,p.Arg898Trp,ENST00000265565,;PTPN23,downstream_gene_variant,,ENST00000431726,;PTPN23,downstream_gene_variant,,ENST00000265562,;SCAP,downstream_gene_variant,,ENST00000468965,;SCAP,downstream_gene_variant,,ENST00000465628,;SCAP,3_prime_UTR_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000602307,;SCAP,downstream_gene_variant,,ENST00000416208,;	3105	237	214	SUCCESS
OR5H14	403273	.	GRCh37	3	97869095	97869095	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs917182258	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	65	150	0	ENST00000437310.1:c.866T>C	p.Ile289Thr	p.I289T	ENST00000437310	NM_001005514.1	289	aTc/aCc	0	.	.	.	.	.	C	I/T	protein_coding	YES	CCDS33798.1	866	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATCTACA	NONE	.	.	Transmembrane_helices:TMhelix,Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF135,hmmpanther:PTHR26452,PROSITE_profiles:PS50262	.	.	ENSP00000401706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000437310	Transcript	.	.	ENSG00000236032	31286	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	O5H14_HUMAN	OR5H14	HGNC	.	.	UPI0000197F5D	SNV	OR5H14,missense_variant,p.Ile289Thr,ENST00000437310,;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	926	150	161	SUCCESS
GUCY1A3	0	.	GRCh37	4	156618268	156618268	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	45	95	0	ENST00000296518.7:c.251del	p.Pro84GlnfsTer6	p.P84Qfs*6	ENST00000296518		83	ttC/tt	0	.	.	.	.	.	-	F/X	protein_coding	YES	CCDS34085.1	249	INDELOCATOR*|VARSCANI*|PINDEL	.	GATTTTCCCAGA	NONE	.	.	hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920	.	.	ENSP00000296518	.	3/10	.	.	.	.	.	.	.	.	.	3/10	PASS	ENST00000296518	Transcript	1	.	ENSG00000164116	4685	2	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCYA3_HUMAN	GUCY1A3	HGNC	Q9NNW8_HUMAN,J3KPQ8_HUMAN	.	UPI0000033343	deletion	GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000506455,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000455639,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000513574,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000296518,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000511507,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000511108,;GUCY1A3,5_prime_UTR_variant,,ENST00000393832,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000515602,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000515201,;GUCY1A3,frameshift_variant,p.Pro84GlnfsTer6,ENST00000443668,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000512983,;GUCY1A3,intron_variant,,ENST00000509901,;	458	95	153	SUCCESS
CASP3	836	.	GRCh37	4	185550584	185550586	+	frameshift_variant	Frame_Shift_Del	DEL	ACT	ACT	CG	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	ACT	ACT	.	.	.	.	.	.	.	.	.	.	.	.	.	171	69	121	0	ENST00000308394.4:c.674_676delinsCG	p.Gln225ProfsTer100	p.Q225Pfs*100	ENST00000308394	NM_004346.3	225	cAGTat/cCGat	0	.	.	.	.	.	CG	QY/PX	protein_coding	YES	CCDS3836.1	674-676	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CGGCATACTGTTTC	NONE	.	.	Superfamily_domains:SSF52129,SMART_domains:SM00115,Pfam_domain:PF00656,Gene3D:3.40.50.1460,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF30,PROSITE_profiles:PS50207	.	.	ENSP00000311032	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000308394	Transcript	.	.	ENSG00000164305	1504	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CASP3_HUMAN	CASP3	HGNC	C9JXR7_HUMAN	.	UPI000000D90B	substitution	CASP3,frameshift_variant,p.Gln225ProfsTer100,ENST00000523916,;CASP3,frameshift_variant,p.Gln225ProfsTer100,ENST00000308394,;CASP3,3_prime_UTR_variant,,ENST00000393585,;CASP3,3_prime_UTR_variant,,ENST00000393588,;CASP3,3_prime_UTR_variant,,ENST00000517513,;CASP3,downstream_gene_variant,,ENST00000447121,;RP11-242J7.1,upstream_gene_variant,,ENST00000519173,;RP11-242J7.1,upstream_gene_variant,,ENST00000520280,;RP11-242J7.1,upstream_gene_variant,,ENST00000522554,;	937-939	121	240	SUCCESS
UGT2B7	7364	.	GRCh37	4	69962260	69962260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	28	78	0	ENST00000305231.7:c.22G>T	p.Val8Leu	p.V8L	ENST00000305231	NM_001074.2	8	Gta/Tta	0	.	.	.	.	.	T	V/L	protein_coding	YES	CCDS3526.1	22	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGTAATT	NONE	.	.	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123	.	.	ENSP00000304811	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000305231	Transcript	.	.	ENSG00000171234	12554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated(0.17)	.	UD2B7_HUMAN	UGT2B7	HGNC	Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN	.	UPI00000015EC	SNV	UGT2B7,missense_variant,p.Val8Leu,ENST00000305231,;UGT2B7,missense_variant,p.Val8Leu,ENST00000508661,;UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	68	78	93	SUCCESS
IGJ	0	.	GRCh37	4	71522068	71522068	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	209	95	197	0	ENST00000254801.4:c.458del	p.Pro153GlnfsTer13	p.P153Qfs*13	ENST00000254801	NM_144646.3	153	cCa/ca	0	.	.	.	.	.	-	P/X	protein_coding	YES	CCDS3545.1	458	INDELOCATOR*|VARSCANI*|PINDEL	.	GCATCTGGGGTT	NONE	.	.	hmmpanther:PTHR10070,hmmpanther:PTHR10070:SF2,Pfam_domain:PF15097	.	.	ENSP00000254801	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254801	Transcript	.	.	ENSG00000132465	5713	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGJ_HUMAN	IGJ	HGNC	C9JA05_HUMAN	.	UPI00000700B2	deletion	IGJ,frameshift_variant,p.Pro153GlnfsTer13,ENST00000254801,;IGJ,frameshift_variant,p.Pro153GlnfsTer?,ENST00000510437,;IGJ,frameshift_variant,p.Pro169GlnfsTer?,ENST00000543780,;IGJ,downstream_gene_variant,,ENST00000391614,;IGJ,downstream_gene_variant,,ENST00000470866,;IGJ,downstream_gene_variant,,ENST00000510614,;ENAM,intron_variant,,ENST00000472903,;ENAM,intron_variant,,ENST00000509221,;	628	197	304	SUCCESS
ALB	213	.	GRCh37	4	74274521	74274524	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	AAGT	AAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	83	0	ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	481-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	6	.	HIGH	4/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	570-?	83	75	SUCCESS
AFP	174	.	GRCh37	4	74303922	74303922	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	51	123	0	ENST00000395792.2:c.169G>C	p.Glu57Gln	p.E57Q	ENST00000395792	NM_001134.1	57	Gaa/Caa	0	.	.	.	.	.	C	E/Q	protein_coding	YES	CCDS3556.1	169	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGAAGCC	NONE	.	.	PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF7,hmmpanther:PTHR11385,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	.	.	ENSP00000379138	.	3/15	.	.	.	.	.	.	.	.	.	3/15	PASS	ENST00000395792	Transcript	1	.	ENSG00000081051	317	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.649)	.	tolerated(0.26)	.	FETA_HUMAN	AFP	HGNC	.	.	UPI00000012A9	SNV	AFP,missense_variant,p.Glu57Gln,ENST00000226359,;AFP,missense_variant,p.Glu57Gln,ENST00000395792,;AFP,downstream_gene_variant,,ENST00000513720,;AFP,downstream_gene_variant,,ENST00000515675,;	269	123	117	SUCCESS
SLC27A6	28965	.	GRCh37	5	128301687	128301687	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	32	0	ENST00000262462.4:c.-144G>T		p.*48*	ENST00000262462				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4145.1	.	MUTECT|MUSE	.	ATCCCGCTTCG	NONE	.	.	.	.	.	ENSP00000262462	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,5_prime_UTR_variant,,ENST00000506176,;SLC27A6,5_prime_UTR_variant,,ENST00000395266,;SLC27A6,5_prime_UTR_variant,,ENST00000262462,;SLC27A6,intron_variant,,ENST00000508645,;	867	32	37	SUCCESS
KIF3A	11127	.	GRCh37	5	132038328	132038328	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	50	0	ENST00000378746.4:c.1599C>A	p.Thr533=	p.T533=	ENST00000378746	NM_007054.5	533	acC/acA	0	.	.	.	.	.	T	T	protein_coding	YES	CCDS34235.1	1599	MUTECT|MUSE	.	AAACTGGTATA	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF53,hmmpanther:PTHR24115	.	.	ENSP00000368020	.	12/17	.	.	.	.	.	.	.	.	.	12/17	PASS	ENST00000378746	Transcript	.	.	ENSG00000131437	6319	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF3A_HUMAN	KIF3A	HGNC	.	.	UPI000035B258	SNV	KIF3A,synonymous_variant,p.%3D,ENST00000450441,;KIF3A,synonymous_variant,p.%3D,ENST00000378746,;KIF3A,synonymous_variant,p.%3D,ENST00000378735,;KIF3A,synonymous_variant,p.%3D,ENST00000403231,;AC004237.1,intron_variant,,ENST00000431165,;KIF3A,non_coding_transcript_exon_variant,,ENST00000487055,;KIF3A,upstream_gene_variant,,ENST00000488471,;	1818	50	57	SUCCESS
NRG2	9542	.	GRCh37	5	139266992	139266992	+	missense_variant	Missense_Mutation	SNP	G	G	T	.	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	59	117	0	ENST00000361474.1:c.805C>A	p.Arg269Ser	p.R269S	ENST00000361474	NM_004883.2	269	Cgt/Agt	0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4217.1	805	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACGGTAGG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR11100:SF20,hmmpanther:PTHR11100,PROSITE_profiles:PS50835	.	.	ENSP00000354910	.	2/10	.	.	.	.	.	.	.	.	COSM94866	2/10	PASS	ENST00000361474	Transcript	.	.	ENSG00000158458	7998	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.349)	.	tolerated(0.15)	1	NRG2_HUMAN	NRG2	HGNC	.	.	UPI0000130507	SNV	NRG2,missense_variant,p.Arg269Ser,ENST00000541337,;NRG2,missense_variant,p.Arg269Ser,ENST00000545385,;NRG2,missense_variant,p.Arg269Ser,ENST00000358522,;NRG2,missense_variant,p.Arg66Ser,ENST00000340391,;NRG2,missense_variant,p.Arg269Ser,ENST00000361474,;NRG2,missense_variant,p.Arg269Ser,ENST00000289422,;NRG2,missense_variant,p.Arg269Ser,ENST00000289409,;NRG2,missense_variant,p.Arg269Ser,ENST00000378238,;NRG2,missense_variant,p.Arg269Ser,ENST00000394770,;NRG2,non_coding_transcript_exon_variant,,ENST00000518130,;	1030	117	115	SUCCESS
FBXO38	81545	.	GRCh37	5	147813252	147813252	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	93	160	0	ENST00000340253.5:c.2809A>T	p.Ile937Phe	p.I937F	ENST00000340253	NM_030793.4	937	Atc/Ttc	0	.	.	.	.	.	T	I/F	protein_coding	YES	CCDS43384.1	2584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAATCACA	NONE	.	.	hmmpanther:PTHR14753	.	.	ENSP00000377895	.	17/22	.	.	.	.	.	.	.	.	.	17/22	PASS	ENST00000394370	Transcript	1	.	ENSG00000145868	28844	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	FBX38_HUMAN	FBXO38	HGNC	.	.	UPI000034ECEB	SNV	FBXO38,missense_variant,p.Ile862Phe,ENST00000394370,;FBXO38,missense_variant,p.Ile692Phe,ENST00000513826,;FBXO38,missense_variant,p.Ile937Phe,ENST00000340253,;FBXO38,missense_variant,p.Ile692Phe,ENST00000296701,;CTD-2283N19.1,upstream_gene_variant,,ENST00000520980,;FBXO38,non_coding_transcript_exon_variant,,ENST00000505399,;FBXO38,non_coding_transcript_exon_variant,,ENST00000504447,;	2685	160	100	SUCCESS
CSF1R	1436	.	GRCh37	5	149435893	149435893	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	48	120	0	ENST00000286301.3:c.2331G>A	p.Arg777=	p.R777=	ENST00000286301	NM_005211.3	777	cgG/cgA	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS4302.1	2331	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGTCCCGGTG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF56112	.	.	ENSP00000286301	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000286301	Transcript	1	.	ENSG00000182578	2433	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSF1R_HUMAN	CSF1R	HGNC	Q6LEI2_HUMAN,D6RGW1_HUMAN	.	UPI000004984A	SNV	CSF1R,synonymous_variant,p.%3D,ENST00000286301,;HMGXB3,downstream_gene_variant,,ENST00000502717,;HMGXB3,downstream_gene_variant,,ENST00000503427,;CSF1R,downstream_gene_variant,,ENST00000515239,;CSF1R,3_prime_UTR_variant,,ENST00000504875,;CSF1R,3_prime_UTR_variant,,ENST00000515068,;CSF1R,upstream_gene_variant,,ENST00000509861,;CSF1R,downstream_gene_variant,,ENST00000513609,;	2623	120	59	SUCCESS
GRIA1	2890	.	GRCh37	5	153054114	153054114	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	177	123	288	0	ENST00000285900.5:c.754G>A	p.Gly252Ser	p.G252S	ENST00000285900	NM_000827.3	252	Ggt/Agt	0	.	.	.	.	.	A	G/S	protein_coding	YES	CCDS58987.1	784	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACAGGTTTC	NONE	.	.	Superfamily_domains:SSF53822,Pfam_domain:PF01094,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157	.	.	ENSP00000428994	.	6/16	.	.	.	.	.	.	.	.	.	6/16	PASS	ENST00000518783	Transcript	.	.	ENSG00000155511	4571	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0.01)	.	GRIA1_HUMAN	GRIA1	HGNC	.	.	UPI0001E8F433	SNV	GRIA1,missense_variant,p.Gly172Ser,ENST00000518142,;GRIA1,missense_variant,p.Gly262Ser,ENST00000518783,;GRIA1,missense_variant,p.Gly183Ser,ENST00000521843,;GRIA1,missense_variant,p.Gly252Ser,ENST00000285900,;GRIA1,missense_variant,p.Gly262Ser,ENST00000448073,;GRIA1,missense_variant,p.Gly252Ser,ENST00000340592,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	811	288	300	SUCCESS
C1QTNF3	114899	.	GRCh37	5	34043130	34043130	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	26	82	0	ENST00000231338.7:c.84+17A>C		p.*28*	ENST00000231338	NM_030945.3	34		0	.	.	.	.	.	G	N/T	protein_coding	YES	CCDS34141.1	101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATTAGTT	NONE	.	.	hmmpanther:PTHR24022:SF76,hmmpanther:PTHR24022	.	.	ENSP00000371497	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000382065	Transcript	.	.	ENSG00000082196	14326	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.021)	.	tolerated_low_confidence(0.08)	.	C1QT3_HUMAN	C1QTNF3	HGNC	.	.	UPI0000052243	SNV	C1QTNF3,missense_variant,p.Asn34Thr,ENST00000382065,;C1QTNF3,intron_variant,,ENST00000231338,;RP11-1084J3.4,intron_variant,,ENST00000382079,;C1QTNF3,intron_variant,,ENST00000508434,;	808	82	53	SUCCESS
PRRC2A	7916	.	GRCh37	6	31593819	31593819	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1454783031	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	54	92	0	ENST00000376007.4:c.862C>T	p.Pro288Ser	p.P288S	ENST00000376007	NM_080686.2	288	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS4708.1	862	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGGCCCCCGA	NONE	.	.	hmmpanther:PTHR14038	.	.	ENSP00000365201	.	9/31	.	.	.	.	.	.	.	.	.	9/31	PASS	ENST00000376033	Transcript	.	.	ENSG00000204469	13918	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	PRC2A_HUMAN	PRRC2A	HGNC	.	.	UPI000020E56F	SNV	PRRC2A,missense_variant,p.Pro288Ser,ENST00000376033,;PRRC2A,missense_variant,p.Pro288Ser,ENST00000376007,;SNORA38,downstream_gene_variant,,ENST00000363946,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000469577,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000464890,;PRRC2A,downstream_gene_variant,,ENST00000464079,;PRRC2A,upstream_gene_variant,,ENST00000483470,;	1096	92	144	SUCCESS
VARS	0	.	GRCh37	6	31760169	31760169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	178	40	79	0	ENST00000375663.3:c.786G>C	p.Glu262Asp	p.E262D	ENST00000375663	NM_006295.2	262	gaG/gaC	0	.	.	.	.	.	G	E/D	protein_coding	YES	CCDS34412.1	786	RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCTCCCC	NONE	.	.	hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF54,Low_complexity_(Seg):seg	.	.	ENSP00000364815	.	5/30	.	.	.	.	.	.	.	.	.	5/30	PASS	ENST00000375663	Transcript	.	.	ENSG00000204394	12651	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.055)	.	tolerated(0.25)	.	SYVC_HUMAN	VARS	HGNC	A2ABF4_HUMAN	.	UPI00001366EA	SNV	VARS,missense_variant,p.Glu262Asp,ENST00000375663,;VARS,splice_region_variant,,ENST00000444930,;VARS,downstream_gene_variant,,ENST00000440048,;VARS,splice_region_variant,,ENST00000495010,;VARS,upstream_gene_variant,,ENST00000489979,;	1227	79	219	SUCCESS
TRERF1	55809	.	GRCh37	6	42214272	42214272	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs752855299	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	38	80	0	ENST00000372922.4:c.2667G>C	p.Lys889Asn	p.K889N	ENST00000372922	NM_033502.2	889	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS4867.1	2667	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCACTTGTC	NONE	.	.	PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689	.	.	ENSP00000362013	.	14/18	.	.	.	.	.	.	.	.	rs752855299	14/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.403)	.	deleterious(0.04)	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,missense_variant,p.Lys909Asn,ENST00000541110,;TRERF1,missense_variant,p.Lys806Asn,ENST00000340840,;TRERF1,missense_variant,p.Lys889Asn,ENST00000372922,;TRERF1,missense_variant,p.Lys806Asn,ENST00000372917,;TRERF1,missense_variant,p.Lys806Asn,ENST00000354325,;	3230	80	84	SUCCESS
MUT	0	.	GRCh37	6	49421336	49421336	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	57	173	0	ENST00000274813.3:c.1045G>C	p.Ala349Pro	p.A349P	ENST00000274813	NM_000255.3	349	Gca/Cca	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS4924.1	1045	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTGCTCTTA	NONE	.	.	hmmpanther:PTHR23408:SF1,hmmpanther:PTHR23408,Gene3D:3.20.20.240,TIGRFAM_domain:TIGR00641,Pfam_domain:PF01642,Superfamily_domains:SSF51703	.	.	ENSP00000274813	.	5/13	.	.	.	.	.	.	.	.	.	5/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.272)	.	deleterious_low_confidence(0.04)	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,missense_variant,p.Ala349Pro,ENST00000274813,;	1173	174	164	SUCCESS
IRAK1BP1	134728	.	GRCh37	6	79577582	79577582	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	281	167	0	ENST00000369940.2:c.289C>T	p.Gln97Ter	p.Q97*	ENST00000369940	NM_001010844.3	97	Cag/Tag	0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS34488.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGCAGAGC	NONE	.	.	hmmpanther:PTHR18842,hmmpanther:PTHR18842:SF1,Pfam_domain:PF04402	.	.	ENSP00000358956	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000369940	Transcript	.	.	ENSG00000146243	17368	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKBP1_HUMAN	IRAK1BP1	HGNC	.	.	UPI000016049F	SNV	IRAK1BP1,stop_gained,p.Gln97Ter,ENST00000369940,;IRAK1BP1,upstream_gene_variant,,ENST00000607739,;IRAK1BP1,stop_gained,p.Gln87Ter,ENST00000606868,;	394	167	357	SUCCESS
KIAA1009	0	.	GRCh37	6	84925113	84925113	+	synonymous_variant	Silent	SNP	C	C	T	.	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	34	45	0	ENST00000403245.3:c.390G>A	p.Glu130=	p.E130=	ENST00000403245	NM_014895.2	130	gaG/gaA	0	.	.	.	.	.	T	E	protein_coding	YES	CCDS34494.2	390	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCTCCTC	NONE	.	.	.	.	.	ENSP00000385215	.	5/27	.	.	.	.	.	.	.	.	COSM1082153	5/27	PASS	ENST00000403245	Transcript	.	.	ENSG00000135315	21107	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	CE162_HUMAN	KIAA1009	HGNC	B3KN48_HUMAN	.	UPI0001533DAA	SNV	KIAA1009,synonymous_variant,p.%3D,ENST00000403245,;KIAA1009,synonymous_variant,p.%3D,ENST00000257766,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000497936,;KIAA1009,downstream_gene_variant,,ENST00000435955,;	505	45	39	SUCCESS
ATG9B	285973	.	GRCh37	7	150713028	150713028	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	39	154	0	ENST00000469530.3:n.211A>T		p.*71*	ENST00000469530		910		0	.	.	.	.	.	A	T/S	protein_coding	YES	.	2728	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGTGGTCA	NONE	.	.	.	.	.	ENSP00000475005	.	14/18	.	.	.	.	.	.	.	.	.	14/18	PASS	ENST00000377974	Transcript	.	.	ENSG00000181652	21899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.108)	.	tolerated_low_confidence(0.12)	.	.	ATG9B	HGNC	S4R430_HUMAN	.	UPI00015E055A	SNV	ATG9B,missense_variant,p.Thr396Ser,ENST00000444312,;ATG9B,missense_variant,p.Thr910Ser,ENST00000377974,;ATG9B,3_prime_UTR_variant,,ENST00000605938,;NOS3,downstream_gene_variant,,ENST00000461406,;NOS3,downstream_gene_variant,,ENST00000297494,;NOS3,downstream_gene_variant,,ENST00000475017,;ATG9B,downstream_gene_variant,,ENST00000605952,;ATG9B,non_coding_transcript_exon_variant,,ENST00000464855,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473698,;ATG9B,non_coding_transcript_exon_variant,,ENST00000486407,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,upstream_gene_variant,,ENST00000498521,;NOS3,downstream_gene_variant,,ENST00000477227,;ATG9B,downstream_gene_variant,,ENST00000473409,;NOS3,downstream_gene_variant,,ENST00000468293,;ATG9B,non_coding_transcript_exon_variant,,ENST00000471797,;ATG9B,non_coding_transcript_exon_variant,,ENST00000469530,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000473134,;NOS3,downstream_gene_variant,,ENST00000475454,;	2804	154	48	SUCCESS
PCLO	27445	.	GRCh37	7	82583509	82583509	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1402428469	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	34	59	0	ENST00000333891.9:c.6760G>A	p.Asp2254Asn	p.D2254N	ENST00000333891	NM_033026.5	2254	Gat/Aat	0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS47630.1	6760	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATCTGGTG	NONE	.	.	hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113	.	.	ENSP00000334319	.	5/25	.	.	.	.	.	.	.	.	COSM461534,COSM461535,COSM461536	5/25	PASS	ENST00000333891	Transcript	.	.	ENSG00000186472	13406	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1,1	.	.	unknown(0)	.	.	1,1,1	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,missense_variant,p.Asp2254Asn,ENST00000333891,;PCLO,missense_variant,p.Asp2254Asn,ENST00000423517,;PCLO,upstream_gene_variant,,ENST00000437081,;	7098	59	63	SUCCESS
CNPY4	245812	.	GRCh37	7	99717482	99717482	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	100	0	ENST00000262932.3:c.115G>T	p.Glu39Ter	p.E39*	ENST00000262932	NM_152755.1	39	Gaa/Taa	0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS34701.1	115	MUTECT|MUSE	.	AATGCGAAGGT	NONE	.	.	hmmpanther:PTHR15382:SF3,hmmpanther:PTHR15382,Pfam_domain:PF11938	.	.	ENSP00000262932	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000262932	Transcript	.	.	ENSG00000166997	28631	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNPY4_HUMAN	CNPY4	HGNC	.	.	UPI000003B115	SNV	CNPY4,stop_gained,p.Glu39Ter,ENST00000262932,;TAF6,upstream_gene_variant,,ENST00000449571,;TAF6,upstream_gene_variant,,ENST00000431404,;TAF6,upstream_gene_variant,,ENST00000437822,;TAF6,upstream_gene_variant,,ENST00000523306,;TAF6,upstream_gene_variant,,ENST00000451699,;TAF6,upstream_gene_variant,,ENST00000452041,;TAF6,upstream_gene_variant,,ENST00000417349,;TAF6,upstream_gene_variant,,ENST00000344095,;TAF6,upstream_gene_variant,,ENST00000418432,;TAF6,upstream_gene_variant,,ENST00000453269,;TAF6,upstream_gene_variant,,ENST00000440225,;TAF6,upstream_gene_variant,,ENST00000493322,;TAF6,upstream_gene_variant,,ENST00000452438,;TAF6,upstream_gene_variant,,ENST00000520135,;TAF6,upstream_gene_variant,,ENST00000460673,;RP11-506M12.1,intron_variant,,ENST00000494221,;CNPY4,upstream_gene_variant,,ENST00000480692,;CNPY4,upstream_gene_variant,,ENST00000470153,;TAF6,upstream_gene_variant,,ENST00000497233,;CNPY4,upstream_gene_variant,,ENST00000483756,;CNPY4,upstream_gene_variant,,ENST00000462193,;TAF6,upstream_gene_variant,,ENST00000421980,;TAF6,upstream_gene_variant,,ENST00000487288,;	247	100	52	SUCCESS
RNF19A	25897	.	GRCh37	8	101276968	101276968	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	50	90	0	ENST00000341084.2:c.1237A>C	p.Asn413His	p.N413H	ENST00000341084	NM_183419.3	413	Aat/Cat	0	.	.	.	.	.	G	N/H	protein_coding	YES	CCDS6286.1	1237	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAATTCCGTT	NONE	.	.	hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF111	.	.	ENSP00000428968	.	7/11	.	.	.	.	.	.	.	.	.	7/11	PASS	ENST00000519449	Transcript	.	.	ENSG00000034677	13432	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.349)	.	tolerated(0.07)	.	RN19A_HUMAN	RNF19A	HGNC	E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN	.	UPI000013D5E6	SNV	RNF19A,missense_variant,p.Asn413His,ENST00000519449,;RNF19A,missense_variant,p.Asn413His,ENST00000341084,;RNF19A,non_coding_transcript_exon_variant,,ENST00000523255,;RNF19A,upstream_gene_variant,,ENST00000523644,;RNF19A,upstream_gene_variant,,ENST00000520071,;RNF19A,downstream_gene_variant,,ENST00000524233,;RNF19A,upstream_gene_variant,,ENST00000520903,;	1554	90	116	SUCCESS
NCALD	83988	.	GRCh37	8	102701577	102701577	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	136	0	ENST00000220931.6:c.542G>T	p.Arg181Leu	p.R181L	ENST00000220931	NM_032041.2	181	cGc/cTc	0	.	.	.	.	.	A	R/L	protein_coding	YES	CCDS6292.1	542	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGCACA	NONE	.	.	hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF87,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450	.	.	ENSP00000379256	.	6/6	.	.	.	.	.	.	.	.	COSM1551087	6/6	PASS	ENST00000395923	Transcript	.	.	ENSG00000104490	7655	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.149)	.	tolerated(0.19)	1	NCALD_HUMAN	NCALD	HGNC	E5RK89_HUMAN,E5RJT1_HUMAN,E5RJJ6_HUMAN,E5RIZ1_HUMAN,E5RIX3_HUMAN,E5RIG4_HUMAN,E5RI95_HUMAN,E5RI78_HUMAN,E5RHE8_HUMAN,E5RHC8_HUMAN,E5RGZ0_HUMAN,E5RFL9_HUMAN,B2RB70_HUMAN	.	UPI0000004090	SNV	NCALD,missense_variant,p.Arg181Leu,ENST00000311028,;NCALD,missense_variant,p.Arg181Leu,ENST00000521599,;NCALD,missense_variant,p.Arg181Leu,ENST00000519508,;NCALD,missense_variant,p.Arg181Leu,ENST00000220931,;NCALD,missense_variant,p.Arg181Leu,ENST00000395923,;NCALD,intron_variant,,ENST00000522448,;NCALD,intron_variant,,ENST00000522951,;NCALD,downstream_gene_variant,,ENST00000520690,;KB-1107E3.1,downstream_gene_variant,,ENST00000518749,;NCALD,non_coding_transcript_exon_variant,,ENST00000522754,;	1002	136	118	SUCCESS
ZFPM2	23414	.	GRCh37	8	106331209	106331209	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	160	151	302	0	ENST00000407775.2:c.40C>A		p.X14_splice	ENST00000407775	NM_012082.3	14	Cgg/Agg	0	.	.	.	.	.	A	R	protein_coding	YES	CCDS47908.1	40	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAACGTAAG	NONE	.	.	hmmpanther:PTHR12958:SF5,hmmpanther:PTHR12958	.	.	ENSP00000384179	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000407775	Transcript	1	.	ENSG00000169946	16700	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOG2_HUMAN	ZFPM2	HGNC	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN	.	UPI000057A0B4	SNV	ZFPM2,synonymous_variant,p.%3D,ENST00000407775,;ZFPM2,upstream_gene_variant,,ENST00000520492,;RP11-127H5.1,intron_variant,,ENST00000518180,;	290	302	312	SUCCESS
ZNF252P-AS1	286103	.	GRCh37	8	146228388	146228388	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G	rs557858763	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	18	0	ENST00000527067.1:n.192T>G		p.*64*	ENST00000527067				0	.	C:0	.	C:0	.	G	.	antisense	YES	.	.	RADIA|MUTECT|MUSE	.	AGTCCTGCTCC	NONE	byFrequency|by1000G	.	.	C:0	.	.	C:0	1/1	.	.	.	.	.	.	.	.	rs557858763	1/1	PASS	ENST00000527067	Transcript	.	C:0.0004	ENSG00000255559	27821	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0.002	.	.	.	ZNF252P-AS1	HGNC	.	.	.	SNV	ZNF252P-AS1,non_coding_transcript_exon_variant,,ENST00000527067,;ZNF252P,upstream_gene_variant,,ENST00000529315,;ZNF252P,upstream_gene_variant,,ENST00000527222,;ZNF252P,upstream_gene_variant,,ENST00000426361,;ZNF252P,upstream_gene_variant,,ENST00000534037,;ZNF252P,upstream_gene_variant,,ENST00000528392,;ZNF252P,upstream_gene_variant,,ENST00000528327,;RP5-1047A19.6,downstream_gene_variant,,ENST00000525753,;ZNF252P,upstream_gene_variant,,ENST00000592792,;	192	18	12	SUCCESS
PHYHIP	9796	.	GRCh37	8	22085742	22085742	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	61	134	0	ENST00000321613.3:c.129G>C	p.Lys43Asn	p.K43N	ENST00000321613	NM_001099335.1	43	aaG/aaC	0	.	.	.	.	.	G	K/N	protein_coding	YES	CCDS43723.1	129	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCTTGTT	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR15698:SF2,hmmpanther:PTHR15698,PROSITE_profiles:PS50853	.	.	ENSP00000415491	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000454243	Transcript	.	.	ENSG00000168490	16865	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	deleterious(0.01)	.	PHYIP_HUMAN	PHYHIP	HGNC	.	.	UPI0000139557	SNV	PHYHIP,missense_variant,p.Lys43Asn,ENST00000454243,;PHYHIP,missense_variant,p.Lys43Asn,ENST00000321613,;PHYHIP,upstream_gene_variant,,ENST00000523252,;PHYHIP,non_coding_transcript_exon_variant,,ENST00000518274,;PHYHIP,non_coding_transcript_exon_variant,,ENST00000522869,;	704	134	69	SUCCESS
OR1K1	392392	.	GRCh37	9	125563246	125563246	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs781701473	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	53	0	ENST00000277309.2:c.845T>C	p.Val282Ala	p.V282A	ENST00000277309	NM_080859.1	282	gTc/gCc	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS35132.1	845	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAGTCACCC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000277309	.	1/1	.	.	.	.	.	.	.	.	rs781701473	1/1	PASS	ENST00000277309	Transcript	.	.	ENSG00000165204	8212	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.122)	.	deleterious(0)	.	OR1K1_HUMAN	OR1K1	HGNC	.	.	UPI000004B1FE	SNV	OR1K1,missense_variant,p.Val282Ala,ENST00000277309,;PDCL,intron_variant,,ENST00000436632,;	877	53	47	SUCCESS
RABGAP1	23637	.	GRCh37	9	125719407	125719407	+	synonymous_variant	Silent	SNP	A	A	G	rs1302726606	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	56	97	0	ENST00000373647.4:c.69A>G	p.Glu23=	p.E23=	ENST00000373647	NM_012197.3	23	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS6848.2	69	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAAGATTT	NONE	.	.	.	.	.	ENSP00000362751	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000373647	Transcript	.	.	ENSG00000011454	17155	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBGP1_HUMAN	RABGAP1	HGNC	B7Z2B4_HUMAN,B5MCD9_HUMAN	.	UPI00000373F8	SNV	RABGAP1,synonymous_variant,p.%3D,ENST00000402311,;RABGAP1,synonymous_variant,p.%3D,ENST00000373647,;RABGAP1,intron_variant,,ENST00000459903,;RABGAP1,synonymous_variant,p.%3D,ENST00000426918,;RABGAP1,5_prime_UTR_variant,,ENST00000456584,;RABGAP1,non_coding_transcript_exon_variant,,ENST00000317419,;	203	97	114	SUCCESS
FPGS	2356	.	GRCh37	9	130565239	130565239	+	synonymous_variant	Silent	SNP	A	A	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	27	41	0	ENST00000373247.2:c.36A>T	p.Leu12=	p.L12=	ENST00000373247	NM_004957.4	12	ctA/ctT	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS35148.1	36	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTATTCCT	NONE	.	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11136,hmmpanther:PTHR11136:SF5,PIRSF_domain:PIRSF038895	.	.	ENSP00000362344	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000373247	Transcript	.	.	ENSG00000136877	3824	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOLC_HUMAN	FPGS	HGNC	.	.	UPI000012AB4D	SNV	FPGS,synonymous_variant,p.%3D,ENST00000373247,;FPGS,synonymous_variant,p.%3D,ENST00000373228,;FPGS,synonymous_variant,p.%3D,ENST00000373245,;FPGS,synonymous_variant,p.%3D,ENST00000393706,;FPGS,upstream_gene_variant,,ENST00000423577,;FPGS,upstream_gene_variant,,ENST00000431857,;FPGS,upstream_gene_variant,,ENST00000373225,;FPGS,non_coding_transcript_exon_variant,,ENST00000460181,;FPGS,non_coding_transcript_exon_variant,,ENST00000488307,;FPGS,non_coding_transcript_exon_variant,,ENST00000475765,;FPGS,non_coding_transcript_exon_variant,,ENST00000481552,;FPGS,intron_variant,,ENST00000479147,;FPGS,intron_variant,,ENST00000479375,;FPGS,upstream_gene_variant,,ENST00000488506,;FPGS,upstream_gene_variant,,ENST00000497386,;FPGS,upstream_gene_variant,,ENST00000496586,;FPGS,upstream_gene_variant,,ENST00000469310,;	86	41	45	SUCCESS
GLDC	2731	.	GRCh37	9	6610207	6610208	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GT	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	85	27	105	0	ENST00000321612.6:c.618_619dup	p.Leu207HisfsTer25	p.L207Hfs*25	ENST00000321612	NM_000170.2	207	ctg/cACtg	0	.	.	.	.	.	GT	L/HX	protein_coding	YES	CCDS34987.1	619-620	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTGCAGTGCC	NONE	.	.	Superfamily_domains:SSF53383,Pfam_domain:PF02347,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR00461,hmmpanther:PTHR11773,HAMAP:MF_00711	.	.	ENSP00000370737	.	4/25	.	.	.	.	.	.	.	.	.	4/25	PASS	ENST00000321612	Transcript	.	.	ENSG00000178445	4313	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCSP_HUMAN	GLDC	HGNC	.	.	UPI0000684276	insertion	GLDC,frameshift_variant,p.Leu207HisfsTer25,ENST00000321612,;GLDC,upstream_gene_variant,,ENST00000463305,;	770-771	105	112	SUCCESS
FOXD4L3	286380	.	GRCh37	9	70919051	70919051	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	45	127	0	ENST00000342833.2:c.1184C>T	p.Ala395Val	p.A395V	ENST00000342833	NM_199135.4	395	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS43833.1	1184	RADIA|VARSCANS	.	GACTGCGCCAA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149	.	.	ENSP00000341961	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342833	Transcript	.	.	ENSG00000187559	18523	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	deleterious_low_confidence(0)	.	FX4L3_HUMAN	FOXD4L3	HGNC	Q8WTR0_HUMAN	.	UPI0000367635	SNV	FOXD4L3,missense_variant,p.Ala395Val,ENST00000342833,;CBWD3,downstream_gene_variant,,ENST00000377342,;CBWD3,downstream_gene_variant,,ENST00000360171,;RP11-561O23.5,upstream_gene_variant,,ENST00000603050,;RP11-561O23.7,upstream_gene_variant,,ENST00000419576,;CBWD3,downstream_gene_variant,,ENST00000377344,;	1776	127	126	SUCCESS
NTRK2	4915	.	GRCh37	9	87635185	87635185	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	67	164	0	ENST00000277120.3:c.2237T>G	p.Phe746Cys	p.F746C	ENST00000277120		746	tTc/tGc	0	.	.	.	.	.	G	F/C	protein_coding	YES	CCDS6671.1	2237	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTCACGA	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF136,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	.	.	ENSP00000365387	.	20/21	.	.	.	.	.	.	.	.	.	20/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.997)	.	deleterious(0)	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,missense_variant,p.Phe730Cys,ENST00000376213,;NTRK2,missense_variant,p.Phe746Cys,ENST00000376214,;NTRK2,missense_variant,p.Phe730Cys,ENST00000323115,;NTRK2,missense_variant,p.Phe746Cys,ENST00000277120,;	3175	164	129	SUCCESS
DRP2	1821	.	GRCh37	X	100496749	100496749	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs369730985	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	45	62	0	ENST00000395209.3:c.652C>T	p.Arg218Cys	p.R218C	ENST00000395209	NM_001939.2	218	Cgc/Tgc	0	T:0	.	.	.	.	T	R/C	protein_coding	YES	CCDS14480.2	652	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCCGCTGT	NONE	.	.	hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF038205	.	T:0.0001	ENSP00000378635	.	7/24	.	.	.	.	.	.	.	.	rs369730985	7/24	PASS	ENST00000395209	Transcript	.	.	ENSG00000102385	3032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.996)	.	deleterious(0.02)	.	DRP2_HUMAN	DRP2	HGNC	.	.	UPI000013D388	SNV	DRP2,missense_variant,p.Arg218Cys,ENST00000538510,;DRP2,missense_variant,p.Arg218Cys,ENST00000402866,;DRP2,missense_variant,p.Arg140Cys,ENST00000541709,;DRP2,missense_variant,p.Arg218Cys,ENST00000395209,;DRP2,missense_variant,p.Arg218Cys,ENST00000372916,;	1179	62	48	SUCCESS
DRP2	1821	.	GRCh37	X	100496750	100496750	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs368516281	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	45	61	0	ENST00000395209.3:c.653G>T	p.Arg218Leu	p.R218L	ENST00000395209	NM_001939.2	218	cGc/cTc	0	.	.	.	.	.	T	R/L	protein_coding	YES	CCDS14480.2	653	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCGCTGTG	NONE	.	.	hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF038205	.	.	ENSP00000378635	.	7/24	.	.	.	.	.	.	.	.	rs368516281	7/24	PASS	ENST00000395209	Transcript	.	.	ENSG00000102385	3032	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious(0.02)	.	DRP2_HUMAN	DRP2	HGNC	.	.	UPI000013D388	SNV	DRP2,missense_variant,p.Arg218Leu,ENST00000538510,;DRP2,missense_variant,p.Arg218Leu,ENST00000402866,;DRP2,missense_variant,p.Arg140Leu,ENST00000541709,;DRP2,missense_variant,p.Arg218Leu,ENST00000395209,;DRP2,missense_variant,p.Arg218Leu,ENST00000372916,;	1180	61	48	SUCCESS
SERPINA7	6906	.	GRCh37	X	105279299	105279299	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	69	76	0	ENST00000327674.4:c.700C>T	p.Gln234Ter	p.Q234*	ENST00000327674		234	Caa/Taa	0	.	.	.	.	.	A	Q/*	protein_coding	YES	CCDS14518.1	700	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGAACAG	NONE	.	.	hmmpanther:PTHR11461:SF39,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	.	.	ENSP00000329374	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000327674	Transcript	.	.	ENSG00000123561	11583	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THBG_HUMAN	SERPINA7	HGNC	.	.	UPI0000001067	SNV	SERPINA7,stop_gained,p.Gln234Ter,ENST00000327674,;SERPINA7,stop_gained,p.Gln234Ter,ENST00000372563,;SERPINA7,upstream_gene_variant,,ENST00000487487,;	1036	76	80	SUCCESS
ZDHHC9	51114	.	GRCh37	X	128957708	128957708	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	42	48	0	ENST00000357166.6:c.434A>T	p.Lys145Met	p.K145M	ENST00000357166	NM_016032.3	145	aAg/aTg	0	.	.	.	.	.	A	K/M	protein_coding	YES	CCDS35395.1	434	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCTTGCAT	NONE	.	.	PROSITE_profiles:PS50216,hmmpanther:PTHR22883:SF24,hmmpanther:PTHR22883,Pfam_domain:PF01529	.	.	ENSP00000349689	.	5/11	.	.	.	.	.	.	.	.	.	5/11	PASS	ENST00000357166	Transcript	.	.	ENSG00000188706	18475	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.946)	.	deleterious(0)	.	ZDHC9_HUMAN	ZDHHC9	HGNC	Q5JYE8_HUMAN	.	UPI0000048EB7	SNV	ZDHHC9,missense_variant,p.Lys145Met,ENST00000406492,;ZDHHC9,missense_variant,p.Lys145Met,ENST00000371064,;ZDHHC9,missense_variant,p.Lys105Met,ENST00000433917,;ZDHHC9,missense_variant,p.Lys145Met,ENST00000357166,;AL359542.1,downstream_gene_variant,,ENST00000582964,;ZDHHC9,non_coding_transcript_exon_variant,,ENST00000491039,;	826	48	47	SUCCESS
SLC6A8	6535	.	GRCh37	X	152959837	152959837	+	synonymous_variant	Silent	SNP	G	G	C	rs1060453	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	71	77	0	ENST00000253122.5:c.1431G>C	p.Ser477=	p.S477=	ENST00000253122	NM_005629.3	477	tcG/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS14726.1	1431	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCGGCCAG	NONE	.	.	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF96,Pfam_domain:PF00209,Superfamily_domains:0053687	.	.	ENSP00000253122	.	10/13	.	.	.	.	.	.	.	.	rs1060453	10/13	PASS	ENST00000253122	Transcript	.	.	ENSG00000130821	11055	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SC6A8_HUMAN	SLC6A8	HGNC	.	.	UPI00001354A0	SNV	SLC6A8,synonymous_variant,p.%3D,ENST00000430077,;SLC6A8,synonymous_variant,p.%3D,ENST00000253122,;SLC6A8,synonymous_variant,p.%3D,ENST00000442457,;SLC6A8,synonymous_variant,p.%3D,ENST00000413787,;SLC6A8,downstream_gene_variant,,ENST00000457723,;SLC6A8,downstream_gene_variant,,ENST00000429147,;SLC6A8,non_coding_transcript_exon_variant,,ENST00000485324,;SLC6A8,downstream_gene_variant,,ENST00000467402,;SLC6A8,downstream_gene_variant,,ENST00000466243,;SLC6A8,downstream_gene_variant,,ENST00000476466,;	1907	77	74	SUCCESS
MAGEB1	4112	.	GRCh37	X	30269467	30269467	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	86	0	ENST00000378981.3:c.857T>C	p.Leu286Pro	p.L286P	ENST00000378981	NM_002363.4	286	cTc/cCc	0	.	.	.	.	.	C	L/P	protein_coding	YES	CCDS14222.1	857	MUTECT|MUSE	.	AGTCCTCGAGT	NONE	.	.	hmmpanther:PTHR11736:SF52,hmmpanther:PTHR11736,PROSITE_profiles:PS50838	.	.	ENSP00000368264	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000378981	Transcript	.	.	ENSG00000214107	6808	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	MAGB1_HUMAN	MAGEB1	HGNC	.	.	UPI000012F053	SNV	MAGEB1,missense_variant,p.Leu286Pro,ENST00000397548,;MAGEB1,missense_variant,p.Leu286Pro,ENST00000397550,;MAGEB1,missense_variant,p.Leu286Pro,ENST00000378981,;	1178	86	88	SUCCESS
FAM47B	170062	.	GRCh37	X	34962125	34962125	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs781613588	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	82	74	0	ENST00000329357.5:c.1177C>T	p.Arg393Trp	p.R393W	ENST00000329357	NM_152631.2	393	Cgg/Tgg	0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS14236.1	1177	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTCGGATG	BUFFER|p.R393Q|c.1178G>A|3	byFrequency	.	hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Pfam_domain:PF14642	.	.	ENSP00000328307	.	1/1	.	.	.	.	.	.	.	.	rs781613588	1/1	PASS	ENST00000329357	Transcript	.	.	ENSG00000189132	26659	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.791)	.	tolerated(0.1)	.	FA47B_HUMAN	FAM47B	HGNC	.	.	UPI000013F47B	SNV	FAM47B,missense_variant,p.Arg393Trp,ENST00000329357,;	1213	74	85	SUCCESS
CXorf36	0	.	GRCh37	X	45017131	45017131	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	rs374071629	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	24	0	ENST00000398000.2:c.501C>A		p.X167_splice	ENST00000398000	NM_176819.3	167	ggC/ggA	0	A:0.0004	.	.	.	.	T	G	protein_coding	YES	CCDS48096.1	501	RADIA|MUSE|VARSCANS	.	GCCAGGCCCTA	NONE	byFrequency|byCluster	.	hmmpanther:PTHR32073:SF8,hmmpanther:PTHR32073	.	A:0	ENSP00000381086	.	3/5	.	.	.	.	.	.	.	.	rs374071629,COSM1121615	3/5	PASS	ENST00000398000	Transcript	.	.	ENSG00000147113	25866	.	.	LOW	.	PRIMARY	.	.	.	.	3	0,1	.	.	.	.	.	0,1	DIA1R_HUMAN	CXorf36	HGNC	B7Z295_HUMAN	.	UPI000059DAFE	SNV	CXorf36,synonymous_variant,p.%3D,ENST00000398000,;CXorf36,downstream_gene_variant,,ENST00000377934,;CXorf36,intron_variant,,ENST00000477281,;	576	24	24	SUCCESS
CHUK	1147	.	GRCh37	10	101980381	101980381	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	44	100	0	ENST00000370397.7:c.438del	p.Lys146AsnfsTer5	p.K146Nfs*5	ENST00000370397	NM_001278.3	146	aaA/aa	0	.	.	.	.	.	-	K/X	protein_coding	YES	CCDS7488.1	438	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCAGGTTTTAG	NONE	.	.	PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000359424	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000370397	Transcript	1	.	ENSG00000213341	1974	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IKKA_HUMAN	CHUK	HGNC	.	.	UPI000013D6C7	deletion	CHUK,frameshift_variant,p.Lys146AsnfsTer5,ENST00000370397,;	525	100	137	SUCCESS
CELF2	10659	.	GRCh37	10	11330509	11330509	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	40	0	ENST00000416382.2:c.949A>G	p.Ser317Gly	p.S317G	ENST00000416382		317	Agt/Ggt	0	.	.	.	.	.	G	S/G	protein_coding	YES	CCDS44355.1	970	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACGAGTCCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF164	.	.	ENSP00000389951	.	9/15	.	.	.	.	.	.	.	.	.	9/15	PASS	ENST00000450189	Transcript	.	.	ENSG00000048740	2550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	tolerated(0.07)	.	.	CELF2	HGNC	E9PC62_HUMAN,B4DIB6_HUMAN	.	UPI0000F58F21	SNV	CELF2,missense_variant,p.Ser293Gly,ENST00000427450,;CELF2,missense_variant,p.Ser293Gly,ENST00000608830,;CELF2,missense_variant,p.Ser293Gly,ENST00000399850,;CELF2,missense_variant,p.Ser317Gly,ENST00000379261,;CELF2,missense_variant,p.Ser293Gly,ENST00000354897,;CELF2,missense_variant,p.Ser317Gly,ENST00000416382,;CELF2,missense_variant,p.Ser206Gly,ENST00000537122,;CELF2,missense_variant,p.Ser293Gly,ENST00000609692,;CELF2,missense_variant,p.Ser293Gly,ENST00000417956,;CELF2,missense_variant,p.Ser293Gly,ENST00000354440,;CELF2,missense_variant,p.Ser324Gly,ENST00000542579,;CELF2,missense_variant,p.Ser324Gly,ENST00000450189,;CELF2,missense_variant,p.Ser293Gly,ENST00000315874,;CELF2,3_prime_UTR_variant,,ENST00000609870,;	1130	40	32	SUCCESS
TACC2	10579	.	GRCh37	10	123903126	123903126	+	synonymous_variant	Silent	SNP	G	G	C	rs145822203	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	80	0	ENST00000334433.3:c.5739G>C	p.Ser1913=	p.S1913=	ENST00000334433		1913	tcG/tcC	0	A:0.0025	A:0.0015	.	A:0	.	C	S	protein_coding	YES	CCDS7626.1	5739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCGGCTGC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	A:0	A:0.0002	ENSP00000358001	A:0.001	7/23	.	.	.	.	.	.	.	.	rs145822203	7/23	PASS	ENST00000369005	Transcript	.	A:0.0016	ENSG00000138162	11523	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0051	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,synonymous_variant,p.%3D,ENST00000369005,;TACC2,synonymous_variant,p.%3D,ENST00000334433,;TACC2,intron_variant,,ENST00000358010,;TACC2,intron_variant,,ENST00000453444,;TACC2,intron_variant,,ENST00000513429,;TACC2,intron_variant,,ENST00000369000,;TACC2,intron_variant,,ENST00000515603,;TACC2,intron_variant,,ENST00000369001,;TACC2,intron_variant,,ENST00000515273,;TACC2,non_coding_transcript_exon_variant,,ENST00000493951,;TACC2,intron_variant,,ENST00000492237,;	6079	80	61	SUCCESS
TACC2	10579	.	GRCh37	10	123969922	123969922	+	synonymous_variant	Silent	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	55	164	0	ENST00000334433.3:c.5982T>C	p.Ser1994=	p.S1994=	ENST00000334433		1994	tcT/tcC	0	.	.	.	.	.	C	S	protein_coding	YES	CCDS7626.1	5982	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTGAGAC	NONE	.	.	hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11	.	.	ENSP00000358001	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000369005	Transcript	.	.	ENSG00000138162	11523	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TACC2_HUMAN	TACC2	HGNC	.	.	UPI0000246F6B	SNV	TACC2,synonymous_variant,p.%3D,ENST00000368999,;TACC2,synonymous_variant,p.%3D,ENST00000358010,;TACC2,synonymous_variant,p.%3D,ENST00000453444,;TACC2,synonymous_variant,p.%3D,ENST00000260733,;TACC2,synonymous_variant,p.%3D,ENST00000369005,;TACC2,synonymous_variant,p.%3D,ENST00000334433,;TACC2,synonymous_variant,p.%3D,ENST00000515603,;TACC2,synonymous_variant,p.%3D,ENST00000369004,;TACC2,synonymous_variant,p.%3D,ENST00000514539,;TACC2,synonymous_variant,p.%3D,ENST00000513429,;TACC2,synonymous_variant,p.%3D,ENST00000360561,;TACC2,synonymous_variant,p.%3D,ENST00000515273,;TACC2,5_prime_UTR_variant,,ENST00000369000,;TACC2,5_prime_UTR_variant,,ENST00000369001,;TACC2,upstream_gene_variant,,ENST00000505639,;TACC2,upstream_gene_variant,,ENST00000496913,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,non_coding_transcript_exon_variant,,ENST00000492237,;TACC2,non_coding_transcript_exon_variant,,ENST00000493951,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;TACC2,upstream_gene_variant,,ENST00000440764,;	6322	164	146	SUCCESS
PARG	8505	.	GRCh37	10	51028218	51028218	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	9	131	0	ENST00000402038.3:c.1314C>A	p.Leu438=	p.L438=	ENST00000402038	NM_003631.2	438	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	.	1314	MUTECT|MUSE	.	ACAGTGAGTTT	NONE	.	.	hmmpanther:PTHR12837	.	.	ENSP00000384408	.	13/14	.	.	.	.	.	.	.	.	.	13/14	PASS	ENST00000402038	Transcript	.	.	ENSG00000227345	8605	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PARG_HUMAN	PARG	HGNC	B4DX76_HUMAN,B4DHS4_HUMAN	.	UPI0000404B69	SNV	PARG,synonymous_variant,p.%3D,ENST00000402038,;RP11-507K13.6,downstream_gene_variant,,ENST00000444021,;	1314	131	126	SUCCESS
CBL	867	.	GRCh37	11	119168164	119168165	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CATCTAT	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	112	0	ENST00000264033.4:c.2227_2233dup	p.Thr745IlefsTer10	p.T745Ifs*10	ENST00000264033	NM_005188.3	742	cca/cCATCTATca	0	.	.	.	.	.	CATCTAT	P/PSIX	protein_coding	YES	CCDS8418.1	2224-2225	INDELOCATOR|VARSCANI	.	AGGCGCCATCT	NONE	.	.	hmmpanther:PTHR23007:SF5,hmmpanther:PTHR23007	.	.	ENSP00000264033	.	14/16	.	.	.	.	.	.	.	.	.	14/16	PASS	ENST00000264033	Transcript	.	.	ENSG00000110395	1541	9	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBL_HUMAN	CBL	HGNC	.	.	UPI000013D4A7	insertion	CBL,frameshift_variant,p.Thr745IlefsTer10,ENST00000264033,;	2600-2601	112	89	SUCCESS
UBASH3B	84959	.	GRCh37	11	122671897	122671897	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	46	105	0	ENST00000284273.5:c.1452T>G		p.X484_splice	ENST00000284273	NM_032873.4	484	ggT/ggG	0	.	.	.	.	.	G	G	protein_coding	YES	CCDS31694.1	1452	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGTTTACA	NONE	.	.	Superfamily_domains:SSF53254,Pfam_domain:PF00300,Gene3D:3.40.50.1240,hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24	.	.	ENSP00000284273	.	11/14	.	.	.	.	.	.	.	.	.	11/14	PASS	ENST00000284273	Transcript	.	.	ENSG00000154127	29884	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBS3B_HUMAN	UBASH3B	HGNC	.	.	UPI0000047471	SNV	UBASH3B,synonymous_variant,p.%3D,ENST00000284273,;UBASH3B,downstream_gene_variant,,ENST00000530578,;	1827	105	113	SUCCESS
CLMP	79827	.	GRCh37	11	123065676	123065676	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	47	149	0	ENST00000448775.2:c.-28G>A		p.*10*	ENST00000448775	NM_024769.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8441.1	.	RADIA|MUTECT|MUSE	.	TTCCCCGCTCA	NONE	.	.	.	.	.	ENSP00000405577	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000448775	Transcript	.	.	ENSG00000166250	24039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLMP_HUMAN	CLMP	HGNC	.	.	UPI0000047815	SNV	CLMP,5_prime_UTR_variant,,ENST00000448775,;CTD-2216M2.1,intron_variant,,ENST00000531681,;	314	149	121	SUCCESS
LDHAL6A	160287	.	GRCh37	11	18500385	18500385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	61	0	ENST00000280706.2:c.967C>T	p.Leu323Phe	p.L323F	ENST00000280706	NM_144972.4	323	Ctt/Ttt	0	.	.	.	.	.	T	L/F	protein_coding	YES	CCDS7841.1	967	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACACTTTGG	NONE	.	.	HAMAP:MF_00488,hmmpanther:PTHR11540,hmmpanther:PTHR11540:SF13,Pfam_domain:PF02866,Gene3D:3.90.110.10,TIGRFAM_domain:TIGR01771,PIRSF_domain:PIRSF000102,Superfamily_domains:SSF56327	.	.	ENSP00000280706	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000280706	Transcript	.	.	ENSG00000166800	28335	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.983)	.	deleterious(0)	.	LDH6A_HUMAN	LDHAL6A	HGNC	.	.	UPI00001B24AC	SNV	LDHAL6A,missense_variant,p.Leu323Phe,ENST00000396213,;LDHAL6A,missense_variant,p.Leu323Phe,ENST00000280706,;TSG101,intron_variant,,ENST00000536719,;TSG101,downstream_gene_variant,,ENST00000251968,;TSG101,downstream_gene_variant,,ENST00000357193,;TSG101,intron_variant,,ENST00000584526,;TSG101,intron_variant,,ENST00000580814,;TSG101,downstream_gene_variant,,ENST00000540555,;TSG101,downstream_gene_variant,,ENST00000545247,;	1764	61	62	SUCCESS
ACCSL	390110	.	GRCh37	11	44074236	44074242	+	frameshift_variant	Frame_Shift_Del	DEL	TCTATGG	TCTATGG	-	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	TCTATGG	TCTATGG	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	74	0	ENST00000378832.1:c.798_804del	p.Phe266LeufsTer15	p.F266Lfs*15	ENST00000378832	NM_001031854.2	266	tTCTATGGt/tt	0	.	.	.	.	.	-	FYG/X	protein_coding	YES	CCDS41636.1	797-803	INDELOCATOR*|VARSCANI*|PINDEL	.	CTCCCTTCTATGGTGGCT	NONE	.	.	hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00753	.	.	ENSP00000368109	.	6/14	.	.	.	.	.	.	.	.	.	6/14	PASS	ENST00000378832	Transcript	.	.	ENSG00000205126	34391	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	1A1L2_HUMAN	ACCSL	HGNC	.	.	UPI000023785D	deletion	ACCSL,frameshift_variant,p.Phe266LeufsTer15,ENST00000378832,;ACCSL,3_prime_UTR_variant,,ENST00000527145,;	853-859	74	67	SUCCESS
CCDC60	160777	.	GRCh37	12	119909936	119909936	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	39	149	0	ENST00000327554.2:c.308T>A	p.Ile103Asn	p.I103N	ENST00000327554	NM_178499.3	103	aTc/aAc	0	.	.	.	.	.	A	I/N	protein_coding	YES	CCDS9190.1	308	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATCTCAG	BUFFER|p.E101K|c.301G>A|4	.	.	.	.	.	ENSP00000333374	.	3/14	.	.	.	.	.	.	.	.	.	3/14	PASS	ENST00000327554	Transcript	.	.	ENSG00000183273	28610	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.358)	.	tolerated(0.31)	.	CCD60_HUMAN	CCDC60	HGNC	F5H5H4_HUMAN	.	UPI000019906E	SNV	CCDC60,missense_variant,p.Ile103Asn,ENST00000327554,;RP11-768F21.1,intron_variant,,ENST00000535511,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000509470,;CCDC60,non_coding_transcript_exon_variant,,ENST00000546345,;	773	149	125	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19496279	19496279	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142164989	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	140	461	0	ENST00000299275.6:c.2264G>A	p.Arg755His	p.R755H	ENST00000299275	NM_019012.5	755	cGt/cAt	0	A:0.0005	.	.	.	.	A	R/H	protein_coding	YES	CCDS58213.1	2573	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGTGCAC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR12752:SF3,hmmpanther:PTHR12752	.	A:0.0001	ENSP00000404296	.	22/32	.	.	.	.	.	.	.	.	rs142164989	22/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.902)	.	tolerated(0.73)	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,missense_variant,p.Arg92His,ENST00000538972,;PLEKHA5,missense_variant,p.Arg686His,ENST00000424268,;PLEKHA5,missense_variant,p.Arg755His,ENST00000317589,;PLEKHA5,missense_variant,p.Arg674His,ENST00000543806,;PLEKHA5,missense_variant,p.Arg858His,ENST00000429027,;PLEKHA5,missense_variant,p.Arg813His,ENST00000538714,;PLEKHA5,missense_variant,p.Arg513His,ENST00000539256,;PLEKHA5,missense_variant,p.Arg755His,ENST00000299275,;PLEKHA5,missense_variant,p.Arg647His,ENST00000536974,;PLEKHA5,missense_variant,p.Arg813His,ENST00000355397,;PLEKHA5,missense_variant,p.Arg755His,ENST00000359180,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000538068,;	2605	461	388	SUCCESS
PTPRQ	374462	.	GRCh37	12	80889873	80889873	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	211	28	273	0	ENST00000266688.5:c.1966A>G	p.Thr656Ala	p.T656A	ENST00000266688		656	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	.	1966	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGAACTTCA	NONE	.	.	PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF527,Gene3D:2.60.40.10	.	.	ENSP00000266688	.	18/50	.	.	.	.	.	.	.	.	.	18/50	PASS	ENST00000266688	Transcript	.	.	ENSG00000139304	9679	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious(0)	.	PTPRQ_HUMAN	PTPRQ	HGNC	.	.	UPI00020655BB	SNV	PTPRQ,missense_variant,p.Thr656Ala,ENST00000266688,;	1966	273	239	SUCCESS
NECAP1	25977	.	GRCh37	12	8248299	8248299	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	45	0	ENST00000339754.5:c.779G>A	p.Ser260Asn	p.S260N	ENST00000339754	NM_015509.3	260	aGc/aAc	0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS8589.1	779	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGGTAAT	NONE	.	.	hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1	.	.	ENSP00000341737	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000339754	Transcript	.	.	ENSG00000089818	24539	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.474)	.	tolerated(0.18)	.	NECP1_HUMAN	NECAP1	HGNC	F5H2U7_HUMAN,A8K3C2_HUMAN	.	UPI000006EB8D	SNV	NECAP1,missense_variant,p.Ser260Asn,ENST00000339754,;NECAP1,downstream_gene_variant,,ENST00000540083,;NECAP1,splice_region_variant,,ENST00000537796,;NECAP1,splice_region_variant,,ENST00000450991,;NECAP1,downstream_gene_variant,,ENST00000545807,;NECAP1,downstream_gene_variant,,ENST00000542095,;NECAP1,downstream_gene_variant,,ENST00000541948,;	857	45	41	SUCCESS
FREM2	341640	.	GRCh37	13	39264425	39264425	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1157011161	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	17	176	0	ENST00000280481.7:c.2944A>G	p.Thr982Ala	p.T982A	ENST00000280481	NM_207361.4	982	Act/Gct	0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS31960.1	2944	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGACTTTC	NONE	.	.	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19	.	.	ENSP00000280481	.	1/24	.	.	.	.	.	.	.	.	.	1/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.122)	.	tolerated(0.09)	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,missense_variant,p.Thr982Ala,ENST00000280481,;	3160	176	134	SUCCESS
ACIN1	22985	.	GRCh37	14	23549129	23549129	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs759456344	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	25	88	0	ENST00000262710.1:c.1589C>T	p.Pro530Leu	p.P530L	ENST00000262710	NM_001164814.1	530	cCt/cTt	0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS9587.1	1589	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGAGGGAGG	NONE	byFrequency	.	hmmpanther:PTHR14127	.	.	ENSP00000262710	.	6/19	.	.	.	.	.	.	.	.	rs759456344	6/19	PASS	ENST00000262710	Transcript	.	.	ENSG00000100813	17066	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.086)	.	.	.	ACINU_HUMAN	ACIN1	HGNC	S4R3H4_HUMAN	.	UPI000013D308	SNV	ACIN1,missense_variant,p.Pro472Leu,ENST00000605057,;ACIN1,missense_variant,p.Pro530Leu,ENST00000262710,;ACIN1,missense_variant,p.Pro530Leu,ENST00000555053,;ACIN1,missense_variant,p.Pro490Leu,ENST00000457657,;ACIN1,upstream_gene_variant,,ENST00000555352,;ACIN1,upstream_gene_variant,,ENST00000554708,;	1917	88	62	SUCCESS
HECTD1	25831	.	GRCh37	14	31613412	31613412	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	187	30	227	0	ENST00000399332.1:c.2683A>T	p.Asn895Tyr	p.N895Y	ENST00000399332	NM_015382.2	895	Aac/Tac	0	.	.	.	.	.	A	N/Y	protein_coding	YES	CCDS41939.1	2683	RADIA|MUTECT|MUSE|VARSCANS	.	TAGGTTTTCTA	NONE	.	.	Superfamily_domains:SSF48371,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	.	.	ENSP00000382269	.	17/43	.	.	.	.	.	.	.	.	.	17/43	PASS	ENST00000399332	Transcript	.	.	ENSG00000092148	20157	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.706)	.	deleterious(0.02)	.	HECD1_HUMAN	HECTD1	HGNC	G3V4V5_HUMAN	.	UPI0000E8AC98	SNV	HECTD1,missense_variant,p.Asn369Tyr,ENST00000553957,;HECTD1,missense_variant,p.Asn895Tyr,ENST00000399332,;HECTD1,missense_variant,p.Asn895Tyr,ENST00000553700,;HECTD1,missense_variant,p.Asn895Tyr,ENST00000556224,;RNU6-541P,downstream_gene_variant,,ENST00000384709,;	3172	227	217	SUCCESS
NID2	22795	.	GRCh37	14	52535631	52535631	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs779694648	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	75	253	0	ENST00000216286.5:c.82G>C	p.Ala28Pro	p.A28P	ENST00000216286	NM_007361.3	28	Gcc/Ccc	0	.	.	.	.	.	G	A/P	protein_coding	YES	CCDS9706.1	82	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCGGCCCGCA	NONE	byFrequency	.	Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	.	.	ENSP00000216286	.	1/22	.	.	.	.	.	.	.	.	rs779694648	1/22	PASS	ENST00000216286	Transcript	.	.	ENSG00000087303	13389	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.908)	.	deleterious(0.04)	.	NID2_HUMAN	NID2	HGNC	.	.	UPI000013C6E1	SNV	NID2,missense_variant,p.Ala28Pro,ENST00000216286,;NID2,intron_variant,,ENST00000541773,;	82	253	204	SUCCESS
YLPM1	56252	.	GRCh37	14	75265439	75265439	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	55	142	0	ENST00000325680.7:c.3439C>T	p.Pro1147Ser	p.P1147S	ENST00000325680	NM_019589.2	1147	Cct/Tct	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS45135.1	3439	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCACCTCGA	NONE	.	.	hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413,Low_complexity_(Seg):seg	.	.	ENSP00000324463	.	5/21	.	.	.	.	.	.	.	.	.	5/21	PASS	ENST00000325680	Transcript	.	.	ENSG00000119596	17798	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.224)	.	.	.	YLPM1_HUMAN	YLPM1	HGNC	B4DMQ9_HUMAN	.	UPI00006C1433	SNV	YLPM1,missense_variant,p.Pro1147Ser,ENST00000325680,;YLPM1,missense_variant,p.Pro952Ser,ENST00000238571,;YLPM1,intron_variant,,ENST00000552421,;YLPM1,missense_variant,p.Pro700Ser,ENST00000549293,;	3563	142	148	SUCCESS
BCL11B	64919	.	GRCh37	14	99640842	99640842	+	synonymous_variant	Silent	SNP	C	C	T	rs745579908	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	19	1	ENST00000357195.3:c.2331G>A	p.Pro777=	p.P777=	ENST00000357195	NM_138576.2	777	ccG/ccA	0	.	.	.	.	.	T	P	protein_coding	YES	CCDS9950.1	2331	SOMATICSNIPER|VARSCANS	.	AGGTGCGGGGT	NONE	.	.	hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	.	.	ENSP00000349723	.	4/4	.	.	.	.	.	.	.	.	rs745579908	4/4	PASS	ENST00000357195	Transcript	.	.	ENSG00000127152	13222	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BC11B_HUMAN	BCL11B	HGNC	L8B7P7_HUMAN	.	UPI000006E083	SNV	BCL11B,synonymous_variant,p.%3D,ENST00000443726,;BCL11B,synonymous_variant,p.%3D,ENST00000345514,;BCL11B,synonymous_variant,p.%3D,ENST00000357195,;	2341	20	24	SUCCESS
LRRK1	79705	.	GRCh37	15	101593240	101593240	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	37	150	0	ENST00000388948.3:c.3803C>T	p.Ala1268Val	p.A1268V	ENST00000388948	NM_024652.3	1268	gCc/gTc	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS42086.1	3803	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGCCGTCA	NONE	.	.	PROSITE_profiles:PS50011,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	.	.	ENSP00000373600	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000388948	Transcript	.	.	ENSG00000154237	18608	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	LRRK1_HUMAN	LRRK1	HGNC	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN	.	UPI0000D4FE63	SNV	LRRK1,missense_variant,p.Ala1268Val,ENST00000388948,;LRRK1,missense_variant,p.Ala1265Val,ENST00000284395,;RP11-505E24.2,intron_variant,,ENST00000559857,;RP11-505E24.3,upstream_gene_variant,,ENST00000558979,;LRRK1,upstream_gene_variant,,ENST00000525395,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,upstream_gene_variant,,ENST00000526457,;	4162	150	119	SUCCESS
BMF	90427	.	GRCh37	15	40398071	40398071	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	95	0	ENST00000354670.4:c.217C>A	p.Leu73Ile	p.L73I	ENST00000354670	NM_001003940.1	73	Ctc/Atc	0	.	.	.	.	.	T	L/I	protein_coding	YES	CCDS10052.1	217	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGAGAGTCT	NONE	.	.	hmmpanther:PTHR32014,Pfam_domain:PF15185	.	.	ENSP00000346697	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000354670	Transcript	.	.	ENSG00000104081	24132	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.995)	.	tolerated(0.18)	.	BMF_HUMAN	BMF	HGNC	H0YNT3_HUMAN	.	UPI0000071AC6	SNV	BMF,missense_variant,p.Leu73Ile,ENST00000561360,;BMF,missense_variant,p.Leu73Ile,ENST00000397573,;BMF,missense_variant,p.Leu73Ile,ENST00000220446,;BMF,missense_variant,p.Leu73Ile,ENST00000558774,;BMF,missense_variant,p.Leu73Ile,ENST00000559701,;BMF,missense_variant,p.Leu73Ile,ENST00000561282,;BMF,missense_variant,p.Leu73Ile,ENST00000354670,;BMF,missense_variant,p.Leu73Ile,ENST00000431415,;BMF,downstream_gene_variant,,ENST00000560430,;BMF,downstream_gene_variant,,ENST00000557870,;BMF,downstream_gene_variant,,ENST00000558057,;	452	95	81	SUCCESS
UNC13C	440279	.	GRCh37	15	54305886	54305886	+	synonymous_variant	Silent	SNP	A	A	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	24	88	0	ENST00000260323.11:c.786A>G	p.Glu262=	p.E262=	ENST00000260323	NM_001080534.1	262	gaA/gaG	0	.	.	.	.	.	G	E	protein_coding	YES	CCDS45264.1	786	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGAACTACG	NONE	.	.	hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	.	.	ENSP00000260323	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000260323	Transcript	.	.	ENSG00000137766	23149	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN13C_HUMAN	UNC13C	HGNC	H3BRP8_HUMAN	.	UPI0000DD82AB	SNV	UNC13C,synonymous_variant,p.%3D,ENST00000537900,;UNC13C,synonymous_variant,p.%3D,ENST00000545554,;UNC13C,synonymous_variant,p.%3D,ENST00000260323,;	786	88	72	SUCCESS
NAA60	79903	.	GRCh37	16	3534783	3534783	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	38	115	0	ENST00000407558.4:c.657C>A	p.Ser219Arg	p.S219R	ENST00000407558		219	agC/agA	0	.	.	.	.	.	A	S/R	protein_coding	YES	CCDS45396.1	657	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCCTGCT	NONE	.	.	hmmpanther:PTHR14744,hmmpanther:PTHR14744:SF15	.	.	ENSP00000385903	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000407558	Transcript	.	.	ENSG00000122390	25875	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.074)	.	deleterious(0.03)	.	NAA60_HUMAN	NAA60	HGNC	I3L4T5_HUMAN,I3L4Q5_HUMAN,I3L2M6_HUMAN,I3L2K7_HUMAN,I3L2B4_HUMAN,I3L205_HUMAN,I3L1X5_HUMAN,I3L1T4_HUMAN,I3L1L7_HUMAN,I3L115_HUMAN	.	UPI000006E5CC	SNV	NAA60,missense_variant,p.Ser111Arg,ENST00000577013,;NAA60,missense_variant,p.Pro144Thr,ENST00000421765,;NAA60,missense_variant,p.Ser219Arg,ENST00000407558,;NAA60,missense_variant,p.Ser219Arg,ENST00000572584,;NAA60,missense_variant,p.Ser219Arg,ENST00000610180,;NAA60,missense_variant,p.Ser226Arg,ENST00000424546,;NAA60,missense_variant,p.Ser154Arg,ENST00000608993,;NAA60,missense_variant,p.Ser219Arg,ENST00000414063,;NAA60,missense_variant,p.Ala120Asp,ENST00000570819,;NAA60,missense_variant,p.Ser154Arg,ENST00000573580,;NAA60,missense_variant,p.Ser219Arg,ENST00000608722,;NAA60,missense_variant,p.Ser154Arg,ENST00000360862,;NAA60,missense_variant,p.Ala120Asp,ENST00000572942,;NAA60,missense_variant,p.Ser219Arg,ENST00000575076,;NAA60,missense_variant,p.Ser111Arg,ENST00000576916,;NAA60,downstream_gene_variant,,ENST00000575733,;NAA60,downstream_gene_variant,,ENST00000572131,;NAA60,downstream_gene_variant,,ENST00000574950,;NAA60,downstream_gene_variant,,ENST00000573201,;NAA60,downstream_gene_variant,,ENST00000573593,;NAA60,downstream_gene_variant,,ENST00000574328,;NAA60,downstream_gene_variant,,ENST00000572757,;NAA60,downstream_gene_variant,,ENST00000572169,;NAA60,non_coding_transcript_exon_variant,,ENST00000570551,;LA16c-306E5.3,intron_variant,,ENST00000574423,;NAA60,downstream_gene_variant,,ENST00000571107,;NAA60,downstream_gene_variant,,ENST00000575936,;NAA60,3_prime_UTR_variant,,ENST00000572739,;NAA60,3_prime_UTR_variant,,ENST00000575785,;NAA60,non_coding_transcript_exon_variant,,ENST00000575754,;NAA60,non_coding_transcript_exon_variant,,ENST00000576819,;NAA60,downstream_gene_variant,,ENST00000571798,;NAA60,downstream_gene_variant,,ENST00000573345,;NAA60,downstream_gene_variant,,ENST00000574380,;	960	115	92	SUCCESS
RHOT2	89941	.	GRCh37	16	723032	723032	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	34	111	0	ENST00000315082.4:c.1632C>T	p.Arg544=	p.R544=	ENST00000315082	NM_138769.2	544	cgC/cgT	0	.	.	.	.	.	T	R	protein_coding	YES	CCDS10417.1	1632	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCGCAAGCA	NONE	.	.	PROSITE_profiles:PS51423,Gene3D:3.40.50.300,PIRSF_domain:PIRSF037488,Superfamily_domains:SSF52540	.	.	ENSP00000321971	.	18/19	.	.	.	.	.	.	.	.	.	18/19	PASS	ENST00000315082	Transcript	.	.	ENSG00000140983	21169	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIRO2_HUMAN	RHOT2	HGNC	.	.	UPI000007310B	SNV	RHOT2,synonymous_variant,p.%3D,ENST00000569197,;RHOT2,synonymous_variant,p.%3D,ENST00000315082,;RHBDL1,upstream_gene_variant,,ENST00000219551,;RHOT2,downstream_gene_variant,,ENST00000563134,;RHBDL1,upstream_gene_variant,,ENST00000561556,;RHBDL1,upstream_gene_variant,,ENST00000352681,;RHOT2,downstream_gene_variant,,ENST00000561929,;RHOT2,downstream_gene_variant,,ENST00000569943,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569358,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568636,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569675,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562957,;RHOT2,non_coding_transcript_exon_variant,,ENST00000602564,;RHOT2,non_coding_transcript_exon_variant,,ENST00000564659,;RHOT2,non_coding_transcript_exon_variant,,ENST00000565004,;RHOT2,downstream_gene_variant,,ENST00000567589,;RHOT2,downstream_gene_variant,,ENST00000566965,;RHOT2,downstream_gene_variant,,ENST00000563776,;RHOT2,downstream_gene_variant,,ENST00000561983,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000566214,;RHOT2,downstream_gene_variant,,ENST00000570092,;RHOT2,downstream_gene_variant,,ENST00000563637,;RHOT2,downstream_gene_variant,,ENST00000569706,;RHBDL1,upstream_gene_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000570280,;RHOT2,downstream_gene_variant,,ENST00000562598,;RHOT2,downstream_gene_variant,,ENST00000562333,;RHOT2,downstream_gene_variant,,ENST00000562708,;RHOT2,downstream_gene_variant,,ENST00000567017,;RHOT2,downstream_gene_variant,,ENST00000561711,;	1746	111	104	SUCCESS
CDH13	1012	.	GRCh37	16	82660622	82660622	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	73	0	ENST00000268613.10:c.-41G>T		p.*14*	ENST00000268613				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58485.1	.	MUTECT|MUSE	.	AGCCTGGCTCC	NONE	.	.	.	.	.	ENSP00000268613	.	1/15	.	.	.	.	.	.	.	.	.	1/15	PASS	ENST00000268613	Transcript	.	.	ENSG00000140945	1753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD13_HUMAN	CDH13	HGNC	.	.	UPI00020E71A6	SNV	CDH13,5_prime_UTR_variant,,ENST00000565636,;CDH13,5_prime_UTR_variant,,ENST00000566620,;CDH13,5_prime_UTR_variant,,ENST00000428848,;CDH13,5_prime_UTR_variant,,ENST00000268613,;CDH13,5_prime_UTR_variant,,ENST00000431540,;CDH13,upstream_gene_variant,,ENST00000446376,;CDH13,upstream_gene_variant,,ENST00000567445,;CDH13,upstream_gene_variant,,ENST00000569455,;CDH13,5_prime_UTR_variant,,ENST00000562601,;CDH13,5_prime_UTR_variant,,ENST00000568770,;CDH13,5_prime_UTR_variant,,ENST00000569144,;CDH13,5_prime_UTR_variant,,ENST00000539548,;CDH13,non_coding_transcript_exon_variant,,ENST00000566333,;	53	73	53	SUCCESS
USP7	7874	.	GRCh37	16	9057131	9057131	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs750093857	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	36	0	ENST00000344836.4:c.12G>C	p.Gln4His	p.Q4H	ENST00000344836	NM_003470.2	4	caG/caC	0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS32385.1	12	MUTECT|MUSE	.	TGCTGCTGGTG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000343535	.	1/31	.	.	.	.	.	.	.	.	rs750093857,COSM1380634	1/31	common_in_exac	ENST00000344836	Transcript	.	.	ENSG00000187555	12630	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	benign(0)	.	tolerated_low_confidence(0.56)	0,1	UBP7_HUMAN	USP7	HGNC	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN	.	UPI000013F0BE	SNV	USP7,missense_variant,p.Gln4His,ENST00000344836,;USP7,intron_variant,,ENST00000569230,;USP7,upstream_gene_variant,,ENST00000566273,;RP11-77H9.8,intron_variant,,ENST00000564485,;USP7,missense_variant,p.Gln4His,ENST00000563961,;	211	36	31	SUCCESS
ZNF18	7566	.	GRCh37	17	11882000	11882000	+	synonymous_variant	Silent	SNP	G	G	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	40	0	ENST00000322748.3:c.924C>A	p.Leu308=	p.L308=	ENST00000322748	NM_144680.2	308	ctC/ctA	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS32568.1	924	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGGAGCTC	NONE	.	.	hmmpanther:PTHR10032:SF11,hmmpanther:PTHR10032	.	.	ENSP00000315664	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000322748	Transcript	.	.	ENSG00000154957	12969	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF18_HUMAN	ZNF18	HGNC	J3KSC1_HUMAN	.	UPI00000703B9	SNV	ZNF18,synonymous_variant,p.%3D,ENST00000454073,;ZNF18,synonymous_variant,p.%3D,ENST00000322748,;ZNF18,synonymous_variant,p.%3D,ENST00000577671,;ZNF18,synonymous_variant,p.%3D,ENST00000582607,;ZNF18,synonymous_variant,p.%3D,ENST00000580306,;ZNF18,intron_variant,,ENST00000580613,;RP11-1096G20.5,upstream_gene_variant,,ENST00000580270,;	1529	40	51	SUCCESS
SYNRG	11276	.	GRCh37	17	35937549	35937549	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	57	170	0	ENST00000339208.6:c.752G>A	p.Gly251Glu	p.G251E	ENST00000339208	NM_001163544.1	251	gGa/gAa	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS11321.1	752	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCCATCT	NONE	.	.	hmmpanther:PTHR15463	.	.	ENSP00000343610	.	7/22	.	.	.	.	.	.	.	.	.	7/22	PASS	ENST00000339208	Transcript	.	.	ENSG00000006114	557	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.027)	.	tolerated(0.24)	.	SYNRG_HUMAN	SYNRG	HGNC	.	.	UPI000013C4EA	SNV	SYNRG,missense_variant,p.Gly251Glu,ENST00000339208,;SYNRG,missense_variant,p.Gly251Glu,ENST00000346661,;SYNRG,intron_variant,,ENST00000394378,;SYNRG,intron_variant,,ENST00000502449,;SYNRG,intron_variant,,ENST00000591288,;SYNRG,intron_variant,,ENST00000345615,;SYNRG,intron_variant,,ENST00000585472,;SYNRG,non_coding_transcript_exon_variant,,ENST00000394379,;SYNRG,intron_variant,,ENST00000588194,;SYNRG,non_coding_transcript_exon_variant,,ENST00000378189,;SYNRG,upstream_gene_variant,,ENST00000421408,;	893	170	155	SUCCESS
ACSF2	80221	.	GRCh37	17	48539553	48539553	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	22	60	0	ENST00000300441.4:c.516C>T	p.Cys172=	p.C172=	ENST00000300441	NM_025149.4	172	tgC/tgT	0	.	.	.	.	.	T	C	protein_coding	YES	CCDS11567.1	516	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCAAGGC	NONE	.	.	hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	.	.	ENSP00000300441	.	5/16	.	.	.	.	.	.	.	.	.	5/16	PASS	ENST00000300441	Transcript	.	.	ENSG00000167107	26101	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSF2_HUMAN	ACSF2	HGNC	B4DUF5_HUMAN	.	UPI0000049DEF	SNV	ACSF2,stop_gained,p.Gln145Ter,ENST00000506582,;ACSF2,synonymous_variant,p.%3D,ENST00000504392,;ACSF2,synonymous_variant,p.%3D,ENST00000541920,;ACSF2,synonymous_variant,p.%3D,ENST00000502667,;ACSF2,synonymous_variant,p.%3D,ENST00000427954,;ACSF2,synonymous_variant,p.%3D,ENST00000300441,;CHAD,downstream_gene_variant,,ENST00000258969,;CHAD,downstream_gene_variant,,ENST00000506187,;CHAD,downstream_gene_variant,,ENST00000508540,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,upstream_gene_variant,,ENST00000508245,;ACSF2,downstream_gene_variant,,ENST00000570356,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,upstream_gene_variant,,ENST00000513101,;ACSF2,upstream_gene_variant,,ENST00000510262,;ACSF2,upstream_gene_variant,,ENST00000506052,;	620	60	45	SUCCESS
RPH3AL	9501	.	GRCh37	17	63676	63676	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	73	0	ENST00000331302.7:c.915A>T	p.Ala305=	p.A305=	ENST00000331302	NM_006987.3	305	gcA/gcT	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS10994.1	915	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGCGTC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000328977	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000331302	Transcript	.	.	ENSG00000181031	10296	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPH3L_HUMAN	RPH3AL	HGNC	I3NI49_HUMAN,I3L3M9_HUMAN,I3L349_HUMAN,I3L308_HUMAN,I3L2X0_HUMAN,I3L2W0_HUMAN,I3L2N0_HUMAN,I3L1Q0_HUMAN,I3L181_HUMAN	.	UPI000006FBCB	SNV	RPH3AL,synonymous_variant,p.%3D,ENST00000536489,;RPH3AL,synonymous_variant,p.%3D,ENST00000331302,;RPH3AL,synonymous_variant,p.%3D,ENST00000323434,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000570893,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000572075,;RPH3AL,downstream_gene_variant,,ENST00000576001,;RPH3AL,non_coding_transcript_exon_variant,,ENST00000572965,;	1223	73	49	SUCCESS
LAMA3	3909	.	GRCh37	18	21437935	21437935	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs745454380	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	77	0	ENST00000313654.9:c.4264G>C	p.Gly1422Arg	p.G1422R	ENST00000313654	NM_198129.1	1422	Ggg/Cgg	0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS42419.1	4264	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGGGGCT	SITE|p.G1422R|c.4264G>C|5	byFrequency	.	PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	.	.	ENSP00000324532	.	33/75	.	.	.	.	.	.	.	.	rs745454380,COSM1611122	33/75	PASS	ENST00000313654	Transcript	.	.	ENSG00000053747	6483	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	possibly_damaging(0.866)	.	.	0,1	LAMA3_HUMAN	LAMA3	HGNC	B0YJ32_HUMAN	.	UPI00001C1222	SNV	LAMA3,missense_variant,p.Gly1422Arg,ENST00000313654,;LAMA3,missense_variant,p.Gly1422Arg,ENST00000399516,;	4505	77	76	SUCCESS
LAMA1	284217	.	GRCh37	18	6993751	6993751	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	67	0	ENST00000389658.3:c.4897C>T	p.Leu1633Phe	p.L1633F	ENST00000389658	NM_005559.3	1633	Ctc/Ttc	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS32787.1	4897	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGAGCTGGT	NONE	.	.	hmmpanther:PTHR10574:SF38,hmmpanther:PTHR10574,Pfam_domain:PF06008	.	.	ENSP00000374309	.	35/63	.	.	.	.	.	.	.	.	.	35/63	PASS	ENST00000389658	Transcript	.	.	ENSG00000101680	6481	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	tolerated(0.33)	.	LAMA1_HUMAN	LAMA1	HGNC	Q7Z5W6_HUMAN,Q6P6D3_HUMAN	.	UPI00001C1FF9	SNV	LAMA1,missense_variant,p.Leu1633Phe,ENST00000389658,;LAMA1,splice_region_variant,,ENST00000579014,;	4991	67	49	SUCCESS
COL5A3	50509	.	GRCh37	19	10089907	10089907	+	synonymous_variant	Silent	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	21	195	0	ENST00000264828.3:c.2775A>T	p.Thr925=	p.T925=	ENST00000264828	NM_015719.3	925	acA/acT	0	.	.	.	.	.	A	T	protein_coding	YES	CCDS12222.1	2775	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGTCTT	NONE	.	.	hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400,Pfam_domain:PF01391	.	.	ENSP00000264828	.	39/67	.	.	.	.	.	.	.	.	.	39/67	PASS	ENST00000264828	Transcript	.	.	ENSG00000080573	14864	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO5A3_HUMAN	COL5A3	HGNC	.	.	UPI00002032A3	SNV	COL5A3,synonymous_variant,p.%3D,ENST00000264828,;	2861	195	166	SUCCESS
MEX3D	399664	.	GRCh37	19	1556821	1556821	+	missense_variant	Missense_Mutation	SNP	C	C	T	.	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	41	182	0	ENST00000402693.4:c.697G>A	p.Val233Met	p.V233M	ENST00000402693	NM_203304.3	233	Gtg/Atg	0	.	.	.	.	.	T	V/M	protein_coding	YES	CCDS32865.2	697	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCACGTCCT	NONE	.	.	Superfamily_domains:SSF54791,SMART_domains:SM00322,Gene3D:3.30.1370.10,Pfam_domain:PF00013,hmmpanther:PTHR23285:SF3,hmmpanther:PTHR23285,PROSITE_profiles:PS50084	.	.	ENSP00000384398	.	2/2	.	.	.	.	.	.	.	.	COSM332731,COSM3422505	2/2	PASS	ENST00000402693	Transcript	.	.	ENSG00000181588	16734	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.92)	.	deleterious(0)	1,1	MEX3D_HUMAN	MEX3D	HGNC	.	.	UPI000059D61B	SNV	MEX3D,missense_variant,p.Val233Met,ENST00000402693,;MEX3D,missense_variant,p.Val57Met,ENST00000605173,;MEX3D,missense_variant,p.Val233Met,ENST00000388824,;AC027307.2,upstream_gene_variant,,ENST00000581992,;AC027307.1,downstream_gene_variant,,ENST00000410788,;	697	182	120	SUCCESS
THOP1	7064	.	GRCh37	19	2811648	2811648	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	26	119	0	ENST00000307741.6:c.1824G>C	p.Gln608His	p.Q608H	ENST00000307741	NM_003249.3	608	caG/caC	0	.	.	.	.	.	C	Q/H	protein_coding	YES	CCDS12095.1	1824	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCAGTACTA	NONE	.	.	hmmpanther:PTHR11804:SF34,hmmpanther:PTHR11804,Pfam_domain:PF01432,Gene3D:2o36A02,Superfamily_domains:SSF55486	.	.	ENSP00000304467	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	SNV	THOP1,missense_variant,p.Gln179His,ENST00000590970,;THOP1,missense_variant,p.Gln608His,ENST00000307741,;THOP1,missense_variant,p.Gln152His,ENST00000587401,;THOP1,missense_variant,p.Gln119His,ENST00000395212,;THOP1,missense_variant,p.Gln487His,ENST00000586677,;THOP1,missense_variant,p.Gln119His,ENST00000587468,;THOP1,intron_variant,,ENST00000591363,;THOP1,downstream_gene_variant,,ENST00000591149,;THOP1,downstream_gene_variant,,ENST00000592639,;THOP1,non_coding_transcript_exon_variant,,ENST00000589087,;THOP1,downstream_gene_variant,,ENST00000590533,;	2027	119	83	SUCCESS
RASGRP4	115727	.	GRCh37	19	38912788	38912788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	39	0	ENST00000587738.1:c.29C>T	p.Ser10Phe	p.S10F	ENST00000587738		10	tCc/tTc	0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS46068.1	29	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGGACTTC	NONE	.	.	hmmpanther:PTHR23113:SF157,hmmpanther:PTHR23113	.	.	ENSP00000465772	.	2/17	.	.	.	.	.	.	.	.	.	2/17	PASS	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.62)	.	deleterious(0)	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,missense_variant,p.Ser10Phe,ENST00000454404,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000426920,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000586305,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000293062,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000587738,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000587753,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000433821,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000589474,;RASGRP4,missense_variant,p.Ser10Phe,ENST00000589358,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;	100	39	38	SUCCESS
ANKRD24	170961	.	GRCh37	19	4216727	4216727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	120	0	ENST00000318934.4:c.1570G>T	p.Ala524Ser	p.A524S	ENST00000318934		524	Gca/Tca	0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS45925.1	1570	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGCAGCC	NONE	.	.	hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8	.	.	ENSP00000471252	.	18/22	.	.	.	.	.	.	.	.	.	18/22	PASS	ENST00000600132	Transcript	.	.	ENSG00000089847	29424	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.005)	.	tolerated(0.12)	.	ANR24_HUMAN	ANKRD24	HGNC	.	.	UPI000041F5A9	SNV	ANKRD24,missense_variant,p.Ala614Ser,ENST00000262970,;ANKRD24,missense_variant,p.Ala524Ser,ENST00000600132,;ANKRD24,missense_variant,p.Ala495Ser,ENST00000597689,;ANKRD24,missense_variant,p.Ala524Ser,ENST00000318934,;ANKRD24,downstream_gene_variant,,ENST00000595096,;	1846	120	77	SUCCESS
PNKP	11284	.	GRCh37	19	50368637	50368637	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1284293244	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	11	159	0	ENST00000322344.3:c.245G>A	p.Gly82Glu	p.G82E	ENST00000322344	NM_007254.3	82	gGg/gAg	0	.	.	.	.	.	T	G/E	protein_coding	YES	CCDS12783.1	245	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACCCCGGC	NONE	.	.	hmmpanther:PTHR12083:SF9,hmmpanther:PTHR12083,TIGRFAM_domain:TIGR01663,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	.	.	ENSP00000323511	.	4/17	.	.	.	.	.	.	.	.	.	4/17	PASS	ENST00000322344	Transcript	1	.	ENSG00000039650	9154	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.081)	.	deleterious(0.01)	.	PNKP_HUMAN	PNKP	HGNC	M0R000_HUMAN,M0QYI1_HUMAN	.	UPI00000705EA	SNV	PNKP,missense_variant,p.Gly82Glu,ENST00000600910,;PNKP,missense_variant,p.Gly82Glu,ENST00000596014,;PNKP,missense_variant,p.Gly82Glu,ENST00000600573,;PNKP,missense_variant,p.Gly82Glu,ENST00000322344,;PTOV1,downstream_gene_variant,,ENST00000601675,;PNKP,upstream_gene_variant,,ENST00000597965,;AKT1S1,downstream_gene_variant,,ENST00000391835,;AKT1S1,downstream_gene_variant,,ENST00000391832,;PTOV1,downstream_gene_variant,,ENST00000599732,;AKT1S1,downstream_gene_variant,,ENST00000344175,;AKT1S1,downstream_gene_variant,,ENST00000391831,;PTOV1,downstream_gene_variant,,ENST00000600603,;PNKP,downstream_gene_variant,,ENST00000599543,;PTOV1,downstream_gene_variant,,ENST00000391842,;PTOV1,downstream_gene_variant,,ENST00000597730,;PTOV1,downstream_gene_variant,,ENST00000601638,;PNKP,downstream_gene_variant,,ENST00000596726,;PTOV1,downstream_gene_variant,,ENST00000601093,;PTOV1,downstream_gene_variant,,ENST00000221557,;AKT1S1,downstream_gene_variant,,ENST00000391833,;AKT1S1,downstream_gene_variant,,ENST00000391834,;AC018766.4,upstream_gene_variant,,ENST00000596624,;PTOV1,downstream_gene_variant,,ENST00000598325,;PNKP,downstream_gene_variant,,ENST00000595792,;PNKP,3_prime_UTR_variant,,ENST00000593946,;PNKP,3_prime_UTR_variant,,ENST00000598020,;PNKP,non_coding_transcript_exon_variant,,ENST00000594661,;PTOV1,downstream_gene_variant,,ENST00000597793,;PNKP,upstream_gene_variant,,ENST00000599454,;PNKP,upstream_gene_variant,,ENST00000595081,;PNKP,upstream_gene_variant,,ENST00000593706,;PTOV1,downstream_gene_variant,,ENST00000601612,;PNKP,upstream_gene_variant,,ENST00000601816,;	355	159	109	SUCCESS
ZNF350	59348	.	GRCh37	19	52477676	52477676	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	52	0	ENST00000243644.4:c.-63A>G		p.*21*	ENST00000243644	NM_021632.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12845.1	.	MUTECT|MUSE	.	GGCCTTCTCTT	NONE	.	.	.	.	.	ENSP00000243644	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000243644	Transcript	.	.	ENSG00000256683	16656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN350_HUMAN	ZNF350	HGNC	M0R1T8_HUMAN,M0R017_HUMAN,M0QYT6_HUMAN,M0QY52_HUMAN	.	UPI00000721F1	SNV	ZNF350,5_prime_UTR_variant,,ENST00000593596,;ZNF350,5_prime_UTR_variant,,ENST00000243644,;ZNF350,5_prime_UTR_variant,,ENST00000594929,;ZNF350,5_prime_UTR_variant,,ENST00000601430,;ZNF350,5_prime_UTR_variant,,ENST00000597788,;HCCAT3,intron_variant,,ENST00000600253,;HCCAT3,intron_variant,,ENST00000595010,;ZNF350,non_coding_transcript_exon_variant,,ENST00000600703,;ZNF350,non_coding_transcript_exon_variant,,ENST00000597555,;ZNF350,non_coding_transcript_exon_variant,,ENST00000598254,;	166	52	57	SUCCESS
BRSK1	84446	.	GRCh37	19	55815053	55815053	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	87	282	0	ENST00000309383.1:c.1145T>C	p.Val382Ala	p.V382A	ENST00000309383	NM_032430.1	382	gTg/gCg	0	.	.	.	.	.	C	V/A	protein_coding	YES	CCDS12921.1	1145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGTGTGGATT	NONE	.	.	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130	.	.	ENSP00000310649	.	12/19	.	.	.	.	.	.	.	.	.	12/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.153)	.	deleterious(0.01)	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,missense_variant,p.Val77Ala,ENST00000326848,;BRSK1,missense_variant,p.Val77Ala,ENST00000591774,;BRSK1,missense_variant,p.Val382Ala,ENST00000309383,;BRSK1,missense_variant,p.Val398Ala,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000585418,;BRSK1,upstream_gene_variant,,ENST00000588584,;BRSK1,non_coding_transcript_exon_variant,,ENST00000586626,;	1422	283	259	SUCCESS
SPTA1	6708	.	GRCh37	1	158648295	158648295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	70	0	ENST00000368147.4:c.708G>T	p.Gln236His	p.Q236H	ENST00000368147	NM_003126.2	236	caG/caT	0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS41423.1	708	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGACTGAAT	NONE	.	.	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	.	.	ENSP00000357129	.	6/52	.	.	.	.	.	.	.	.	.	6/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.516)	.	tolerated(0.14)	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,missense_variant,p.Gln236His,ENST00000368147,;SPTA1,missense_variant,p.Gln54His,ENST00000467387,;	889	70	78	SUCCESS
SLAMF8	56833	.	GRCh37	1	159802783	159802783	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs1267669878	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	85	153	0	ENST00000289707.5:c.485A>G	p.Tyr162Cys	p.Y162C	ENST00000289707	NM_020125.2	162	tAt/tGt	0	.	.	.	.	.	G	Y/C	protein_coding	YES	CCDS1188.1	485	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTATAGCT	BUFFER|p.R165*|c.493C>T|3,BUFFER|p.R165Q|c.494G>A|3	.	.	Superfamily_domains:SSF48726,Pfam_domain:PF13927,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF45,PROSITE_profiles:PS50835	.	.	ENSP00000289707	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000289707	Transcript	.	.	ENSG00000158714	21391	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	SLAF8_HUMAN	SLAMF8	HGNC	.	.	UPI000003E841	SNV	SLAMF8,missense_variant,p.Tyr53Cys,ENST00000368104,;SLAMF8,missense_variant,p.Tyr162Cys,ENST00000289707,;C1orf204,downstream_gene_variant,,ENST00000368102,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;C1orf204,downstream_gene_variant,,ENST00000491974,;SLAMF8,upstream_gene_variant,,ENST00000497141,;	634	153	177	SUCCESS
BRINP3	339479	.	GRCh37	1	190067645	190067645	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	111	43	100	0	ENST00000367462.3:c.1804G>T	p.Asp602Tyr	p.D602Y	ENST00000367462	NM_199051.1	602	Gac/Tac	0	.	.	.	.	.	A	D/Y	protein_coding	YES	CCDS1373.1	1804	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTCCAACT	NONE	.	.	hmmpanther:PTHR15564:SF2,hmmpanther:PTHR15564	.	.	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	COSM386199	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.998)	.	deleterious(0)	1	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,missense_variant,p.Asp500Tyr,ENST00000534846,;BRINP3,missense_variant,p.Asp602Tyr,ENST00000367462,;	2036	100	154	SUCCESS
GPR25	2848	.	GRCh37	1	200842406	200842406	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	46	83	0	ENST00000304244.2:c.241C>T	p.Leu81=	p.L81=	ENST00000304244	NM_005298.3	81	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	CCDS1405.1	241	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACCTGGCG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228:SF9,hmmpanther:PTHR24228,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	.	ENSP00000301917	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304244	Transcript	.	.	ENSG00000170128	4480	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR25_HUMAN	GPR25	HGNC	.	.	UPI000013E957	SNV	GPR25,synonymous_variant,p.%3D,ENST00000304244,;	324	83	92	SUCCESS
IKBKE	9641	.	GRCh37	1	206658535	206658535	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1281179215	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	137	42	170	0	ENST00000367120.3:c.1508C>T	p.Ala503Val	p.A503V	ENST00000367120	NM_014002.3	503	gCg/gTg	0	.	.	.	.	.	T	A/V	protein_coding	YES	CCDS30996.1	1508	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTAGCGGAGG	NONE	.	.	hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF10	.	.	ENSP00000356087	.	15/22	.	.	.	.	.	.	.	.	.	15/22	PASS	ENST00000367120	Transcript	.	.	ENSG00000143466	14552	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	tolerated(0.18)	.	IKKE_HUMAN	IKBKE	HGNC	.	.	UPI0000033727	SNV	IKBKE,missense_variant,p.Ala503Val,ENST00000367120,;IKBKE,missense_variant,p.Ala418Val,ENST00000537984,;IKBKE,downstream_gene_variant,,ENST00000492570,;	1881	170	179	SUCCESS
HSPG2	3339	.	GRCh37	1	22216583	22216583	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	14	145	0	ENST00000374695.3:c.465T>A	p.Asn155Lys	p.N155K	ENST00000374695	NM_005529.5	155	aaT/aaA	0	.	.	.	.	.	T	N/K	protein_coding	YES	CCDS30625.1	465	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCATTCCC	NONE	.	.	PROSITE_profiles:PS50024,SMART_domains:SM00200	.	.	ENSP00000363827	.	6/97	.	.	.	.	.	.	.	.	.	6/97	PASS	ENST00000374695	Transcript	.	.	ENSG00000142798	5273	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.013)	.	.	.	PGBM_HUMAN	HSPG2	HGNC	B6EU51_HUMAN	.	UPI0000212778	SNV	HSPG2,missense_variant,p.Met78Lys,ENST00000412328,;HSPG2,missense_variant,p.Asn121Lys,ENST00000439717,;HSPG2,missense_variant,p.Asn155Lys,ENST00000374695,;HSPG2,upstream_gene_variant,,ENST00000374673,;	545	145	113	SUCCESS
INADL	0	.	GRCh37	1	62516635	62516635	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	rs774880021	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	10	148	0	ENST00000371158.2:c.4033-3T>G		p.X1345_splice	ENST00000371158	NM_176877.2	1345		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS617.2	.	MUSE|VARSCANS	.	TTCCATAGGAT	NONE	.	.	.	.	.	ENSP00000360200	.	.	.	.	.	.	.	.	.	.	rs774880021	.	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	LOW	30/42	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,splice_region_variant,,ENST00000371158,;INADL,splice_region_variant,,ENST00000545929,;INADL,splice_region_variant,,ENST00000316485,;INADL,splice_region_variant,,ENST00000543708,;INADL,splice_region_variant,,ENST00000307297,;INADL,splice_region_variant,,ENST00000459752,;INADL,splice_region_variant,,ENST00000484937,;INADL,splice_region_variant,,ENST00000484562,;	.	148	106	SUCCESS
ELTD1	0	.	GRCh37	1	79357337	79357337	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	43	81	0	ENST00000370742.3:c.1882G>T	p.Gly628Cys	p.G628C	ENST00000370742	NM_022159.3	628	Ggc/Tgc	0	.	.	.	.	.	A	G/C	protein_coding	YES	CCDS41352.1	1882	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCGAGAA	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF00002,Prints_domain:PR00249	.	.	ENSP00000359778	.	14/15	.	.	.	.	.	.	.	.	COSM3492613,COSM3492614	14/15	PASS	ENST00000370742	Transcript	.	.	ENSG00000162618	20822	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(1)	.	deleterious(0.01)	1,1	ELTD1_HUMAN	ELTD1	HGNC	.	.	UPI00004561FF	SNV	ELTD1,missense_variant,p.Gly628Cys,ENST00000370742,;ELTD1,missense_variant,p.Gly86Cys,ENST00000401034,;	1946	82	89	SUCCESS
PIGU	128869	.	GRCh37	20	33163022	33163022	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	38	175	1	ENST00000217446.3:c.1080C>G	p.Cys360Trp	p.C360W	ENST00000217446	NM_080476.4	360	tgC/tgG	0	.	.	.	.	.	C	C/W	protein_coding	YES	CCDS13239.1	1080	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATGCAGGT	NONE	.	.	Transmembrane_helices:TMhelix,hmmpanther:PTHR13121,Pfam_domain:PF06728	.	.	ENSP00000217446	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000217446	Transcript	.	.	ENSG00000101464	15791	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.868)	.	deleterious(0)	.	PIGU_HUMAN	PIGU	HGNC	.	.	UPI0000131ABC	SNV	PIGU,missense_variant,p.Cys106Trp,ENST00000438215,;PIGU,missense_variant,p.Cys340Trp,ENST00000374820,;PIGU,missense_variant,p.Cys360Trp,ENST00000452740,;PIGU,missense_variant,p.Cys360Trp,ENST00000217446,;PIGU,downstream_gene_variant,,ENST00000480175,;	1080	176	116	SUCCESS
PTGIS	5740	.	GRCh37	20	48130860	48130860	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs745642215	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	66	0	ENST00000244043.4:c.928C>T	p.Arg310Cys	p.R310C	ENST00000244043	NM_000961.3	310	Cgc/Tgc	0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS13419.1	928	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGCGGACAG	NONE	byFrequency	.	hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,Gene3D:1.10.630.10,Pfam_domain:PF00067,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500628,Superfamily_domains:SSF48264	.	.	ENSP00000244043	.	7/10	.	.	.	.	.	.	.	.	rs745642215	7/10	PASS	ENST00000244043	Transcript	.	.	ENSG00000124212	9603	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.752)	.	deleterious(0.01)	.	PTGIS_HUMAN	PTGIS	HGNC	Q6LEN0_HUMAN	.	UPI00001328DF	SNV	PTGIS,missense_variant,p.Arg310Cys,ENST00000244043,;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;	958	66	68	SUCCESS
PRPF6	24148	.	GRCh37	20	62612631	62612631	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs796657288	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	44	177	0	ENST00000266079.4:c.33G>T	p.Met11Ile	p.M11I	ENST00000266079	NM_012469.3	11	atG/atT	0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS13550.1	33	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGATGCCCGC	NONE	.	.	hmmpanther:PTHR11246:SF12,hmmpanther:PTHR11246	.	.	ENSP00000266079	.	1/21	.	.	.	.	.	.	.	.	exm2234788	1/21	PASS	ENST00000266079	Transcript	1	.	ENSG00000101161	15860	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.11)	.	PRP6_HUMAN	PRPF6	HGNC	.	.	UPI0000132356	SNV	PRPF6,missense_variant,p.Met11Ile,ENST00000266079,;PRPF6,missense_variant,p.Met11Ile,ENST00000535781,;ZNF512B,intron_variant,,ENST00000217130,;ZNF512B,intron_variant,,ENST00000450537,;SAMD10,upstream_gene_variant,,ENST00000369886,;SAMD10,upstream_gene_variant,,ENST00000450107,;SAMD10,upstream_gene_variant,,ENST00000498830,;SAMD10,upstream_gene_variant,,ENST00000478694,;	144	177	133	SUCCESS
IGLV1-44	28823	.	GRCh37	22	22735584	22735584	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs369704003	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	381	36	380	0	ENST00000390297.2:c.221G>A	p.Arg74Gln	p.R74Q	ENST00000390297		74	cGg/cAg	0	A:0.0003	.	.	.	.	A	R/Q	IG_V_gene	YES	.	221	MUTECT|MUSE|VARSCANS	.	TCAGCGGCCCT	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF116,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	.	A:0.0002	ENSP00000374832	.	2/2	.	.	.	.	.	.	.	.	rs369704003	2/2	PASS	ENST00000390297	Transcript	.	.	ENSG00000211651	5879	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.606)	.	deleterious_low_confidence(0)	.	.	IGLV1-44	HGNC	.	.	UPI0000115F98	SNV	IGLV1-44,missense_variant,p.Arg74Gln,ENST00000390297,;IGLV5-45,downstream_gene_variant,,ENST00000390296,;	335	381	418	SUCCESS
APOBEC3G	60489	.	GRCh37	22	39476966	39476966	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs747116946	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	28	92	0	ENST00000407997.3:c.200A>T	p.Glu67Val	p.E67V	ENST00000407997	NM_021822.3	67	gAg/gTg	0	.	.	.	.	.	T	E/V	protein_coding	YES	CCDS13984.1	200	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGAGATGA	NONE	.	.	hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF23,Pfam_domain:PF08210	.	.	ENSP00000385057	.	3/8	.	.	.	.	.	.	.	.	rs747116946	3/8	PASS	ENST00000407997	Transcript	.	.	ENSG00000239713	17357	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.864)	.	deleterious(0)	.	ABC3G_HUMAN	APOBEC3G	HGNC	B2LYL6_HUMAN	.	UPI00000709E2	SNV	APOBEC3G,missense_variant,p.Glu67Val,ENST00000452957,;APOBEC3G,missense_variant,p.Glu67Val,ENST00000407997,;APOBEC3G,non_coding_transcript_exon_variant,,ENST00000486357,;APOBEC3G,non_coding_transcript_exon_variant,,ENST00000461827,;APOBEC3G,non_coding_transcript_exon_variant,,ENST00000494150,;APOBEC3G,non_coding_transcript_exon_variant,,ENST00000480000,;APOBEC3G,non_coding_transcript_exon_variant,,ENST00000481958,;APOBEC3G,downstream_gene_variant,,ENST00000463934,;	557	92	74	SUCCESS
CYP2D6	1565	.	GRCh37	22	42525162	42525162	+	synonymous_variant	Silent	SNP	G	G	C	rs369043970	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	19	56	0	ENST00000360608.5:c.378C>G	p.Pro126=	p.P126=	ENST00000360608	NM_000106.5	126	ccC/ccG	0	A:0.0002	.	.	.	.	C	P	protein_coding	YES	CCDS46721.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCGGGCCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	A:0	ENSP00000353820	.	3/9	.	.	.	.	.	.	.	.	rs369043970	3/9	PASS	ENST00000360608	Transcript	.	.	ENSG00000100197	2625	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CYP2D6	HGNC	Q6NWU0_HUMAN,Q007T9_HUMAN	.	UPI0000157756	SNV	CYP2D6,synonymous_variant,p.%3D,ENST00000360608,;CYP2D6,synonymous_variant,p.%3D,ENST00000389970,;CYP2D6,intron_variant,,ENST00000359033,;NDUFA6-AS1,intron_variant,,ENST00000416037,;NDUFA6-AS1,intron_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000451451,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608491,;NDUFA6-AS1,downstream_gene_variant,,ENST00000600968,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608288,;NDUFA6-AS1,downstream_gene_variant,,ENST00000595777,;NDUFA6-AS1,downstream_gene_variant,,ENST00000434834,;NDUFA6-AS1,downstream_gene_variant,,ENST00000610250,;NDUFA6-AS1,downstream_gene_variant,,ENST00000417327,;NDUFA6-AS1,downstream_gene_variant,,ENST00000536447,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;CYP2D6,intron_variant,,ENST00000360124,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609499,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608643,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609833,;NDUFA6-AS1,downstream_gene_variant,,ENST00000547929,;RP4-669P10.19,upstream_gene_variant,,ENST00000417586,;	493	56	71	SUCCESS
DBI	1622	.	GRCh37	2	120124633	120124633	+	synonymous_variant	Silent	SNP	T	T	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	12	143	0	ENST00000355857.3:c.6T>G	p.Ser2=	p.S2=	ENST00000355857	NM_001178043.1	2	tcT/tcG	0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54391.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTCTCAGGT	NONE	.	196	.	.	.	ENSP00000440698	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000542275	Transcript	.	.	ENSG00000155368	2690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACBP_HUMAN	DBI	HGNC	B8ZWD8_HUMAN	.	UPI00018E1AD6	SNV	DBI,synonymous_variant,p.%3D,ENST00000535617,;DBI,synonymous_variant,p.%3D,ENST00000355857,;DBI,5_prime_UTR_variant,,ENST00000409094,;DBI,5_prime_UTR_variant,,ENST00000535757,;C2orf76,upstream_gene_variant,,ENST00000409523,;DBI,upstream_gene_variant,,ENST00000542275,;DBI,upstream_gene_variant,,ENST00000311521,;DBI,upstream_gene_variant,,ENST00000393103,;C2orf76,upstream_gene_variant,,ENST00000409877,;C2orf76,upstream_gene_variant,,ENST00000414534,;C2orf76,upstream_gene_variant,,ENST00000334816,;C2orf76,upstream_gene_variant,,ENST00000409466,;DBI,upstream_gene_variant,,ENST00000460901,;C2orf76,upstream_gene_variant,,ENST00000498049,;DBI,non_coding_transcript_exon_variant,,ENST00000492375,;DBI,upstream_gene_variant,,ENST00000475783,;	.	143	118	SUCCESS
SESTD1	91404	.	GRCh37	2	180008343	180008343	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	72	0	ENST00000428443.3:c.825A>T	p.Glu275Asp	p.E275D	ENST00000428443	NM_178123.4	275	gaA/gaT	0	.	.	.	.	.	A	E/D	protein_coding	YES	CCDS33338.1	825	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTTCTAA	NONE	.	.	Gene3D:1.20.58.60,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19	.	.	ENSP00000415332	.	9/18	.	.	.	.	.	.	.	.	.	9/18	PASS	ENST00000428443	Transcript	.	.	ENSG00000187231	18379	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(1)	.	SESD1_HUMAN	SESTD1	HGNC	Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN	.	UPI0000043424	SNV	SESTD1,missense_variant,p.Glu275Asp,ENST00000428443,;SESTD1,missense_variant,p.Glu82Asp,ENST00000426988,;SESTD1,non_coding_transcript_exon_variant,,ENST00000489901,;SESTD1,intron_variant,,ENST00000335289,;	1142	72	73	SUCCESS
NDUFS1	4719	.	GRCh37	2	206994823	206994823	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	42	100	0	ENST00000233190.6:c.1697T>G	p.Ile566Ser	p.I566S	ENST00000233190	NM_005006.6	566	aTt/aGt	0	.	.	.	.	.	C	I/S	protein_coding	YES	CCDS56165.1	1739	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATAATGAAA	NONE	.	.	hmmpanther:PTHR11615:SF115,hmmpanther:PTHR11615,Pfam_domain:PF00384,TIGRFAM_domain:TIGR01973,Gene3D:3.40.50.740,Superfamily_domains:SSF53706	.	.	ENSP00000392709	.	15/19	.	.	.	.	.	.	.	.	.	15/19	PASS	ENST00000455934	Transcript	.	.	ENSG00000023228	7707	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.756)	.	deleterious(0)	.	NDUS1_HUMAN	NDUFS1	HGNC	E5KRK5_HUMAN,Q9P1A0_HUMAN,C9JPQ5_HUMAN,B4DJ81_HUMAN	.	UPI0000EE3600	SNV	NDUFS1,missense_variant,p.Ile580Ser,ENST00000455934,;NDUFS1,missense_variant,p.Ile530Ser,ENST00000440274,;NDUFS1,missense_variant,p.Ile450Ser,ENST00000457011,;NDUFS1,missense_variant,p.Ile566Ser,ENST00000449699,;NDUFS1,missense_variant,p.Ile455Ser,ENST00000432169,;NDUFS1,missense_variant,p.Ile566Ser,ENST00000233190,;NDUFS1,missense_variant,p.Ile509Ser,ENST00000423725,;NDUFS1,non_coding_transcript_exon_variant,,ENST00000498520,;	1800	100	98	SUCCESS
NYAP2	57624	.	GRCh37	2	226447154	226447154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	58	170	1	ENST00000272907.6:c.1021C>T	p.Pro341Ser	p.P341S	ENST00000272907	NM_020864.1	341	Ccc/Tcc	0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS46529.1	1021	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCCCCGCC	BUFFER|p.A342T|c.1024G>A|3	.	.	Pfam_domain:PF15439,hmmpanther:PTHR22633	.	.	ENSP00000272907	.	4/6	.	.	.	.	.	.	.	.	.	4/6	PASS	ENST00000272907	Transcript	.	.	ENSG00000144460	29291	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	tolerated(0.07)	.	NYAP2_HUMAN	NYAP2	HGNC	.	.	UPI00001C1DB6	SNV	NYAP2,missense_variant,p.Pro341Ser,ENST00000272907,;NYAP2,intron_variant,,ENST00000409269,;	1434	171	148	SUCCESS
CNTN4	152330	.	GRCh37	3	3095652	3095652	+	synonymous_variant	Silent	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	187	7	223	0	ENST00000397461.1:c.2973G>A	p.Lys991=	p.K991=	ENST00000397461	NM_001206955.1	991	aaG/aaA	0	.	.	.	.	.	A	K	protein_coding	YES	CCDS43041.1	2973	MUTECT|MUSE	.	CCAAAGATATC	NONE	.	.	hmmpanther:PTHR10489:SF568,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	.	.	ENSP00000380602	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000397461	Transcript	.	.	ENSG00000144619	2174	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTN4_HUMAN	CNTN4	HGNC	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN	.	UPI000007446C	SNV	CNTN4,synonymous_variant,p.%3D,ENST00000397459,;CNTN4,synonymous_variant,p.%3D,ENST00000397461,;CNTN4,synonymous_variant,p.%3D,ENST00000448906,;CNTN4,synonymous_variant,p.%3D,ENST00000418658,;CNTN4,synonymous_variant,p.%3D,ENST00000358480,;CNTN4,synonymous_variant,p.%3D,ENST00000427331,;CNTN4-AS1,intron_variant,,ENST00000442749,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;	3357	223	194	SUCCESS
CTNNB1	1499	.	GRCh37	3	41266103	41266103	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913399	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	105	179	0	ENST00000349496.5:c.100G>A	p.Gly34Arg	p.G34R	ENST00000349496	NM_001904.3	34	Gga/Aga	0	.	.	.	.	.	A	G/R	protein_coding	YES	CCDS2694.1	100	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGGAATC	SITE|p.G34R|c.100G>A|88,CODON|p.A5_A80del|c.14_241del228|3,CODON|p.A5_A80>D|c.14_241del228|7,CODON|p.A5_Q143del|c.14_430del417|5,CODON|p.V22_G38del|c.64_114del51|3,CODON|p.W25_I140del|c.73_420del348|3,CODON|p.Q28_H134del|c.82_402del321|5,CODON|p.S33L|c.97_98TC>CT|4,CODON|p.S33N|c.97_98TC>AA|3,CODON|p.S33C|c.98C>G|191,CODON|p.S33F|c.98C>T|110,CODON|p.S33Y|c.98C>A|73,CODON|p.S33S|c.99T>C|3,BUFFER|p.WQQQSYLD25?|c.73_96del24|5,BUFFER|p.W25_D32del|c.74_97del24|4,BUFFER|p.L31L|c.91C>T|3,BUFFER|p.D32Y|c.94G>T|138,BUFFER|p.D32N|c.94G>A|92,BUFFER|p.D32H|c.94G>C|53,BUFFER|p.D32V|c.95A>T|41,BUFFER|p.D32G|c.95A>G|72,BUFFER|p.D32A|c.95A>C|19,BUFFER|p.D32E|c.96C>A|3,BUFFER|p.S33A|c.97T>G|20,BUFFER|p.S33P|c.97T>C|61,BUFFER|p.G34R|c.100G>C|19,BUFFER|p.G34E|c.101G>A|87,BUFFER|p.G34V|c.101G>T|90,BUFFER|p.I35T|c.104T>C|14,BUFFER|p.I35S|c.104T>G|36,BUFFER|p.H36Y|c.106C>T|5,BUFFER|p.H36R|c.107A>G|3,BUFFER|p.H36P|c.107A>C|34,BUFFER|p.S37A|c.109T>G|67,BUFFER|p.S37P|c.109T>C|30,BUFFER|p.S37C|c.110C>G|157,BUFFER|p.S37F|c.110C>T|201,BUFFER|p.S37Y|c.110C>A|37,BUFFER|p.G38P|c.112_114GGT>CCC|4,BUFFER|p.S37S|c.111T>C|4	.	.	hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53	.	.	ENSP00000344456	.	3/15	.	.	.	.	.	.	.	.	rs121913399,COSM5686,COSM5684,COSM3660550	3/15	PASS	ENST00000349496	Transcript	.	.	ENSG00000168036	2514	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1,1,1	.	.	probably_damaging(0.997)	.	deleterious(0)	0,1,1,1	CTNB1_HUMAN	CTNNB1	HGNC	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN	.	UPI000012862F	SNV	CTNNB1,missense_variant,p.Gly34Arg,ENST00000349496,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000426215,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396185,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000405570,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396183,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	380	179	149	SUCCESS
BAP1	8314	.	GRCh37	3	52437545	52437545	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	16	112	0	ENST00000460680.1:c.1616T>A	p.Leu539Gln	p.L539Q	ENST00000460680	NM_004656.3	539	cTg/cAg	0	.	.	.	.	.	T	L/Q	protein_coding	YES	CCDS2853.1	1616	RADIA|MUTECT|MUSE|VARSCANS	.	CACGCAGCAGG	NONE	.	.	hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589	.	.	ENSP00000417132	.	13/17	.	.	.	.	.	.	.	.	.	13/17	PASS	ENST00000460680	Transcript	.	.	ENSG00000163930	950	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	possibly_damaging(0.794)	.	deleterious_low_confidence(0.02)	.	BAP1_HUMAN	BAP1	HGNC	F8WEY5_HUMAN,C9J7L9_HUMAN	.	UPI0000071B3D	SNV	BAP1,missense_variant,p.Leu40Gln,ENST00000478368,;BAP1,missense_variant,p.Leu521Gln,ENST00000296288,;BAP1,missense_variant,p.Leu539Gln,ENST00000460680,;BAP1,intron_variant,,ENST00000469613,;DNAH1,downstream_gene_variant,,ENST00000420323,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,;DNAH1,downstream_gene_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000490917,;DNAH1,downstream_gene_variant,,ENST00000490713,;BAP1,downstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;DNAH1,downstream_gene_variant,,ENST00000488988,;BAP1,downstream_gene_variant,,ENST00000471532,;	2088	112	101	SUCCESS
ROBO2	6092	.	GRCh37	3	77147493	77147493	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	54	110	1	ENST00000461745.1:c.388+2T>C		p.X130_splice	ENST00000461745	NM_002942.4	130		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54609.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATGTAAGTG	NONE	.	.	.	.	.	ENSP00000417335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	HIGH	3/26	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,splice_donor_variant,,ENST00000332191,;ROBO2,splice_donor_variant,,ENST00000602589,;ROBO2,splice_donor_variant,,ENST00000461745,;ROBO2,splice_donor_variant,,ENST00000487694,;ROBO2,downstream_gene_variant,,ENST00000475034,;ROBO2,splice_donor_variant,,ENST00000473767,;	.	111	82	SUCCESS
NFKB1	4790	.	GRCh37	4	103528819	103528819	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	23	72	0	ENST00000394820.4:c.2135T>G	p.Val712Gly	p.V712G	ENST00000394820		712	gTg/gGg	0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS3657.1	2138	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTGGACA	NONE	.	.	PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24169:SF9,hmmpanther:PTHR24169,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	.	.	ENSP00000226574	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000226574	Transcript	.	.	ENSG00000109320	7794	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.929)	.	deleterious(0)	.	NFKB1_HUMAN	NFKB1	HGNC	D6RF93_HUMAN,D6RC45_HUMAN	.	UPI0000192724	SNV	NFKB1,missense_variant,p.Val532Gly,ENST00000600343,;NFKB1,missense_variant,p.Val712Gly,ENST00000505458,;NFKB1,missense_variant,p.Val712Gly,ENST00000394820,;NFKB1,missense_variant,p.Val713Gly,ENST00000226574,;	2605	72	65	SUCCESS
CASP3	836	.	GRCh37	4	185552301	185552301	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	38	116	0	ENST00000308394.4:c.494G>A	p.Gly165Asp	p.G165D	ENST00000308394	NM_004346.3	165	gGt/gAt	0	.	.	.	.	.	T	G/D	protein_coding	YES	CCDS3836.1	494	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTACCACGG	NONE	.	.	Prints_domain:PR00376,Superfamily_domains:SSF52129,SMART_domains:SM00115,Pfam_domain:PF00656,Gene3D:3.40.50.1460,PROSITE_patterns:PS01122,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF30,PROSITE_profiles:PS50208	.	.	ENSP00000311032	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000308394	Transcript	.	.	ENSG00000164305	1504	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CASP3_HUMAN	CASP3	HGNC	C9JXR7_HUMAN	.	UPI000000D90B	SNV	CASP3,missense_variant,p.Gly165Asp,ENST00000523916,;CASP3,missense_variant,p.Gly165Asp,ENST00000308394,;CASP3,intron_variant,,ENST00000393585,;CASP3,intron_variant,,ENST00000517513,;CASP3,intron_variant,,ENST00000393588,;CASP3,downstream_gene_variant,,ENST00000447121,;	757	116	98	SUCCESS
CCKAR	886	.	GRCh37	4	26483748	26483748	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140102483	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	40	103	0	ENST00000295589.3:c.799G>A	p.Asp267Asn	p.D267N	ENST00000295589	NM_000730.2	267	Gat/Aat	0	T:0.0002	.	.	.	.	T	D/N	protein_coding	YES	CCDS3438.1	799	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATCGCTGT	NONE	byCluster	.	PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF60,Pfam_domain:PF00001,Prints_domain:PR01822	.	T:0	ENSP00000295589	.	5/5	.	.	.	.	.	.	.	.	rs140102483	5/5	PASS	ENST00000295589	Transcript	.	.	ENSG00000163394	1570	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.913)	.	tolerated(0.15)	.	CCKAR_HUMAN	CCKAR	HGNC	.	.	UPI00000503F3	SNV	CCKAR,missense_variant,p.Asp267Asn,ENST00000295589,;	994	103	105	SUCCESS
ALB	213	.	GRCh37	4	74274521	74274524	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	AAGT	AAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	70	29	110	0	ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3555.1	481-?	INDELOCATOR*|VARSCANI*|PINDEL	.	TTGAAAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000295897	.	4/15	.	.	.	.	.	.	.	.	.	4/15	PASS	ENST00000295897	Transcript	1	.	ENSG00000163631	399	6	.	HIGH	4/14	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALBU_HUMAN	ALB	HGNC	.	.	UPI000002C1AC	deletion	ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000295897,;ALB,splice_donor_variant,,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000504043,;	570-?	110	99	SUCCESS
SHROOM3	57619	.	GRCh37	4	77680796	77680796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	73	223	0	ENST00000296043.6:c.5297T>C	p.Met1766Thr	p.M1766T	ENST00000296043	NM_020859.3	1766	aTg/aCg	0	.	.	.	.	.	C	M/T	protein_coding	YES	CCDS3579.2	5297	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGATGCCAG	NONE	.	.	Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012,Pfam_domain:PF08687	.	.	ENSP00000296043	.	9/11	.	.	.	.	.	.	.	.	.	9/11	PASS	ENST00000296043	Transcript	1	.	ENSG00000138771	30422	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.787)	.	deleterious(0)	.	SHRM3_HUMAN	SHROOM3	HGNC	.	.	UPI0000E5AC1C	SNV	SHROOM3,missense_variant,p.Met1766Thr,ENST00000296043,;RP11-359D14.3,intron_variant,,ENST00000449007,;RP11-359D14.2,upstream_gene_variant,,ENST00000452412,;	6250	223	198	SUCCESS
WDR36	134430	.	GRCh37	5	110443041	110443041	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs140155952	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	53	169	0	ENST00000506538.2:c.1397G>C	p.Gly466Ala	p.G466A	ENST00000506538	NM_139281.2	466	gGt/gCt	0	A:0.0005	.	.	.	.	C	G/A	protein_coding	YES	CCDS4102.1	1397	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAGGTAAGC	NONE	byCluster	.	PROSITE_profiles:PS50294,hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2	.	A:0	ENSP00000423067	.	12/23	.	.	.	.	.	.	.	.	rs140155952	12/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.847)	.	deleterious(0)	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,missense_variant,p.Gly466Ala,ENST00000513710,;WDR36,missense_variant,p.Gly466Ala,ENST00000506538,;WDR36,missense_variant,p.Gly410Ala,ENST00000505303,;WDR36,downstream_gene_variant,,ENST00000504122,;	1970	169	163	SUCCESS
JADE2	23338	.	GRCh37	5	133887742	133887742	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs756142158	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	166	103	311	1	ENST00000395003.1:c.154G>T	p.Val52Phe	p.V52F	ENST00000395003	NM_015288.4	52	Gtt/Ttt	0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS4176.1	154	RADIA|MUTECT|MUSE	.	CACAGGTTTTC	NONE	.	.	Pfam_domain:PF10513,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84	.	.	ENSP00000378451	.	4/11	.	.	.	.	.	.	.	.	rs756142158	4/11	PASS	ENST00000395003	Transcript	.	.	ENSG00000043143	22984	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	JADE2_HUMAN	JADE2	HGNC	D6R9B8_HUMAN,C9J929_HUMAN	.	UPI00002331C9	SNV	JADE2,missense_variant,p.Val52Phe,ENST00000395003,;JADE2,missense_variant,p.Val52Phe,ENST00000282605,;JADE2,missense_variant,p.Val52Phe,ENST00000402835,;JADE2,missense_variant,p.Val52Phe,ENST00000512386,;JADE2,missense_variant,p.Val52Phe,ENST00000361895,;JADE2,missense_variant,p.Val52Phe,ENST00000431355,;JADE2,splice_region_variant,,ENST00000453515,;	333	312	270	SUCCESS
TRPC7	57113	.	GRCh37	5	135692611	135692611	+	synonymous_variant	Silent	SNP	G	G	A	rs778432814	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	28	65	0	ENST00000513104.1:c.465C>T	p.Asp155=	p.D155=	ENST00000513104	NM_020389.2	155	gaC/gaT	0	.	.	.	.	.	A	D	protein_coding	YES	CCDS47267.2	465	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGTCGTA	NONE	.	.	Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	.	.	ENSP00000426070	.	2/12	.	.	.	.	.	.	.	.	rs778432814	2/12	PASS	ENST00000513104	Transcript	.	.	ENSG00000069018	20754	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPC7_HUMAN	TRPC7	HGNC	.	.	UPI000004F27A	SNV	TRPC7,synonymous_variant,p.%3D,ENST00000502753,;TRPC7,synonymous_variant,p.%3D,ENST00000378459,;TRPC7,synonymous_variant,p.%3D,ENST00000513104,;TRPC7,synonymous_variant,p.%3D,ENST00000426057,;TRPC7,synonymous_variant,p.%3D,ENST00000355180,;TRPC7,synonymous_variant,p.%3D,ENST00000352189,;TRPC7,synonymous_variant,p.%3D,ENST00000514963,;TRPC7,synonymous_variant,p.%3D,ENST00000503275,;	748	65	71	SUCCESS
POU4F3	5459	.	GRCh37	5	145719608	145719608	+	synonymous_variant	Silent	SNP	G	G	A	rs1490367253	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	91	0	ENST00000230732.4:c.618G>A	p.Ala206=	p.A206=	ENST00000230732	NM_002700.2	206	gcG/gcA	0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4281.1	618	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGGACGT	NONE	.	.	PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF43,PROSITE_patterns:PS00035,Pfam_domain:PF00157,Gene3D:1.10.260.40,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028	.	.	ENSP00000230732	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000230732	Transcript	1	.	ENSG00000091010	9220	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO4F3_HUMAN	POU4F3	HGNC	.	.	UPI0000131D91	SNV	POU4F3,synonymous_variant,p.%3D,ENST00000230732,;RBM27,downstream_gene_variant,,ENST00000506502,;CTC-359M8.1,intron_variant,,ENST00000515598,;	707	91	98	SUCCESS
MROH2B	133558	.	GRCh37	5	41057463	41057463	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	rs746278513	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	95	0	ENST00000399564.4:c.757-1G>A		p.X253_splice	ENST00000399564	NM_173489.4	253		0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47202.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTCTAAAG	NONE	.	.	.	.	.	ENSP00000382476	.	.	.	.	.	.	.	.	.	.	rs746278513,COSM1311157	.	PASS	ENST00000399564	Transcript	.	.	ENSG00000171495	26857	.	.	HIGH	7/41	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	MRO2B_HUMAN	MROH2B	HGNC	F5GZ06_HUMAN	.	UPI000020CA04	SNV	MROH2B,splice_acceptor_variant,,ENST00000399564,;MROH2B,intron_variant,,ENST00000506092,;MROH2B,splice_acceptor_variant,,ENST00000515297,;MROH2B,splice_acceptor_variant,,ENST00000508575,;	.	95	84	SUCCESS
KIAA0825	285600	.	GRCh37	5	93775757	93775757	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs749015521	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	210	105	329	0	ENST00000513200.3:c.2427C>A	p.Asn809Lys	p.N809K	ENST00000513200	NM_001145678.1	809	aaC/aaA	0	.	.	.	.	.	T	N/K	protein_coding	.	.	2427	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCAGTTACA	NONE	byFrequency	.	Pfam_domain:PF14906	.	.	ENSP00000400288	.	12/19	.	.	.	.	.	.	.	.	rs749015521	12/19	PASS	ENST00000427991	Transcript	.	.	ENSG00000185261	28532	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.125)	.	tolerated(0.08)	.	.	KIAA0825	HGNC	C9J0Q2_HUMAN	.	UPI0001D3B505	SNV	KIAA0825,missense_variant,p.Asn809Lys,ENST00000427991,;KIAA0825,missense_variant,p.Asn809Lys,ENST00000312498,;KIAA0825,missense_variant,p.Asn809Lys,ENST00000513200,;KIAA0825,non_coding_transcript_exon_variant,,ENST00000504117,;	2427	329	315	SUCCESS
PRDM1	639	.	GRCh37	6	106552764	106552764	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	38	157	0	ENST00000369096.4:c.729C>T	p.Val243=	p.V243=	ENST00000369096	NM_001198.3	243	gtC/gtT	0	.	.	.	.	.	T	V	protein_coding	YES	CCDS5054.2	729	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTCCCAAA	NONE	.	.	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,PIRSF_domain:PIRSF013212	.	.	ENSP00000358092	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000369096	Transcript	.	.	ENSG00000057657	9346	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM1_HUMAN	PRDM1	HGNC	Q5T4E8_HUMAN,B2REA5_HUMAN	.	UPI0000D49069	SNV	PRDM1,synonymous_variant,p.%3D,ENST00000369096,;PRDM1,synonymous_variant,p.%3D,ENST00000369091,;PRDM1,synonymous_variant,p.%3D,ENST00000450060,;PRDM1,synonymous_variant,p.%3D,ENST00000369089,;RP1-134E15.3,downstream_gene_variant,,ENST00000602426,;	963	157	105	SUCCESS
DCDC2	51473	.	GRCh37	6	24291202	24291202	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	18	111	0	ENST00000378454.3:c.662G>T	p.Ser221Ile	p.S221I	ENST00000378454	NM_001195610.1	221	aGt/aTt	0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS4550.1	662	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCACTGTAA	NONE	.	.	PROSITE_profiles:PS50309,hmmpanther:PTHR23004:SF5,hmmpanther:PTHR23004,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837	.	.	ENSP00000367715	.	5/10	.	.	.	.	.	.	.	.	COSM3623190	5/10	PASS	ENST00000378454	Transcript	.	.	ENSG00000146038	18141	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	1	.	.	benign(0.156)	.	tolerated(0.4)	1	DCDC2_HUMAN	DCDC2	HGNC	.	.	UPI000013DA24	SNV	DCDC2,missense_variant,p.Ser221Ile,ENST00000378454,;	964	111	121	SUCCESS
ABCF1	23	.	GRCh37	6	30558377	30558377	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	130	79	199	0	ENST00000326195.8:c.2437G>A	p.Glu813Lys	p.E813K	ENST00000326195	NM_001025091.1	813	Gag/Aag	0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS34380.1	2437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTGGAGGAG	NONE	.	.	PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF14,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000313603	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000326195	Transcript	.	.	ENSG00000204574	70	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.235)	.	deleterious(0.02)	.	ABCF1_HUMAN	ABCF1	HGNC	F5GYK6_HUMAN	.	UPI0000141876	SNV	ABCF1,missense_variant,p.Glu813Lys,ENST00000326195,;ABCF1,missense_variant,p.Glu206Lys,ENST00000396515,;ABCF1,missense_variant,p.Glu775Lys,ENST00000376545,;ABCF1,missense_variant,p.Glu564Lys,ENST00000475993,;ABCF1,non_coding_transcript_exon_variant,,ENST00000479542,;	2549	199	209	SUCCESS
MUT	0	.	GRCh37	6	49407923	49407923	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs1136145	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	23	53	0	ENST00000274813.3:c.1952T>A	p.Phe651Tyr	p.F651Y	ENST00000274813	NM_000255.3	651	tTc/tAc	0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS4924.1	1952	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGAAAAGA	NONE	.	.	PROSITE_profiles:PS51332,hmmpanther:PTHR23408:SF1,hmmpanther:PTHR23408,Pfam_domain:PF02310,Gene3D:3.40.50.280,TIGRFAM_domain:TIGR00640,Superfamily_domains:SSF52242	.	.	ENSP00000274813	.	11/13	.	.	.	.	.	.	.	.	rs1136145	11/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,missense_variant,p.Phe651Tyr,ENST00000274813,;	2080	53	68	SUCCESS
DDX43	55510	.	GRCh37	6	74121953	74121953	+	missense_variant	Missense_Mutation	SNP	C	C	A	.	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	57	117	0	ENST00000370336.4:c.1306C>A	p.Arg436Ser	p.R436S	ENST00000370336	NM_018665.2	436	Cgc/Agc	0	.	.	.	.	.	A	R/S	protein_coding	YES	CCDS4977.1	1306	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATCGCCTC	NONE	.	.	Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR24031:SF225,hmmpanther:PTHR24031,PROSITE_profiles:PS51192	.	.	ENSP00000359361	.	11/17	.	.	.	.	.	.	.	.	COSM1547474	11/17	PASS	ENST00000370336	Transcript	.	.	ENSG00000080007	18677	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.961)	.	deleterious(0)	1	DDX43_HUMAN	DDX43	HGNC	.	.	UPI000013CA60	SNV	DDX43,missense_variant,p.Arg436Ser,ENST00000370336,;MB21D1,downstream_gene_variant,,ENST00000370318,;DDX43,downstream_gene_variant,,ENST00000539829,;DDX43,non_coding_transcript_exon_variant,,ENST00000479773,;	1464	117	106	SUCCESS
FILIP1	27145	.	GRCh37	6	76022223	76022223	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1488362044	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	76	216	0	ENST00000237172.7:c.3325C>T	p.Leu1109Phe	p.L1109F	ENST00000237172	NM_015687.2	1109	Ctt/Ttt	0	.	.	.	.	.	A	L/F	protein_coding	YES	CCDS4984.1	3325	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGAAGGACAG	NONE	.	.	hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	.	.	ENSP00000237172	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000237172	Transcript	.	.	ENSG00000118407	21015	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.972)	.	tolerated(0.08)	.	FLIP1_HUMAN	FILIP1	HGNC	.	.	UPI0000160071	SNV	FILIP1,missense_variant,p.Leu1010Phe,ENST00000370020,;FILIP1,missense_variant,p.Leu1109Phe,ENST00000393004,;FILIP1,missense_variant,p.Leu1109Phe,ENST00000237172,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;	3656	216	209	SUCCESS
PMPCB	9512	.	GRCh37	7	102952611	102952611	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	71	0	ENST00000249269.4:c.1405+33G>A		p.*469*	ENST00000249269	NM_004279.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5730.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAGTTGGC	NONE	.	.	.	.	.	ENSP00000249269	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODIFIER	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,missense_variant,p.Val480Ile,ENST00000428154,;PMPCB,intron_variant,,ENST00000249269,;PMPCB,intron_variant,,ENST00000420236,;DNAJC2,downstream_gene_variant,,ENST00000249270,;DNAJC2,downstream_gene_variant,,ENST00000379263,;PMPCB,non_coding_transcript_exon_variant,,ENST00000469560,;PMPCB,intron_variant,,ENST00000444457,;PMPCB,intron_variant,,ENST00000453466,;PMPCB,intron_variant,,ENST00000443722,;DNAJC2,downstream_gene_variant,,ENST00000475090,;DNAJC2,downstream_gene_variant,,ENST00000492497,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000498530,;DNAJC2,downstream_gene_variant,,ENST00000464253,;DNAJC2,downstream_gene_variant,,ENST00000475065,;	.	72	89	SUCCESS
PSMC2	5701	.	GRCh37	7	103008217	103008217	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	101	0	ENST00000292644.3:c.1105A>T	p.Arg369Ter	p.R369*	ENST00000292644		369	Aga/Tga	0	.	.	.	.	.	T	R/*	protein_coding	YES	CCDS5731.1	1105	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATCAGATTT	NONE	.	.	Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01242,Gene3D:1.10.8.60,hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF13	.	.	ENSP00000391211	.	12/13	.	.	.	.	.	.	.	.	.	12/13	PASS	ENST00000435765	Transcript	.	.	ENSG00000161057	9548	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS7_HUMAN	PSMC2	HGNC	Q75L23_HUMAN,C9JLS9_HUMAN,B7Z5E2_HUMAN	.	UPI000013237A	SNV	PSMC2,stop_gained,p.Arg369Ter,ENST00000292644,;PSMC2,stop_gained,p.Arg369Ter,ENST00000435765,;PSMC2,stop_gained,p.Arg232Ter,ENST00000544811,;SLC26A5,intron_variant,,ENST00000339444,;SLC26A5,intron_variant,,ENST00000356767,;SLC26A5,intron_variant,,ENST00000393735,;	1516	101	94	SUCCESS
SMO	6608	.	GRCh37	7	128852200	128852200	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	135	0	ENST00000249373.3:c.2272T>A	p.Trp758Arg	p.W758R	ENST00000249373	NM_005631.4	758	Tgg/Agg	0	.	.	.	.	.	A	W/R	protein_coding	YES	CCDS5811.1	2272	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCATGGGCT	NONE	.	.	.	.	.	ENSP00000249373	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000249373	Transcript	.	.	ENSG00000128602	11119	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.45)	.	SMO_HUMAN	SMO	HGNC	A4D1K5_HUMAN	.	UPI0000050447	SNV	SMO,missense_variant,p.Trp758Arg,ENST00000249373,;RP11-286H14.8,intron_variant,,ENST00000466717,;SMO,downstream_gene_variant,,ENST00000462420,;SMO,downstream_gene_variant,,ENST00000495998,;SMO,downstream_gene_variant,,ENST00000475779,;	2552	135	108	SUCCESS
DGKI	9162	.	GRCh37	7	137154301	137154301	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	40	122	0	ENST00000288490.5:c.2492T>C	p.Leu831Pro	p.L831P	ENST00000288490	NM_004717.2	831	cTa/cCa	0	.	.	.	.	.	G	L/P	protein_coding	YES	CCDS5845.1	2492	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTAGGAAG	NONE	.	.	hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41	.	.	ENSP00000288490	.	25/34	.	.	.	.	.	.	.	.	.	25/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.907)	.	deleterious(0)	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,missense_variant,p.Leu831Pro,ENST00000288490,;DGKI,missense_variant,p.Leu834Pro,ENST00000424189,;DGKI,missense_variant,p.Leu531Pro,ENST00000453654,;DGKI,missense_variant,p.Leu813Pro,ENST00000446122,;DGKI,non_coding_transcript_exon_variant,,ENST00000460662,;DGKI,upstream_gene_variant,,ENST00000497321,;	2493	122	99	SUCCESS
KIAA1549	57670	.	GRCh37	7	138603191	138603191	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	52	143	1	ENST00000422774.1:c.1181A>G	p.His394Arg	p.H394R	ENST00000422774		394	cAt/cGt	0	.	.	.	.	.	C	H/R	protein_coding	YES	CCDS56513.1	1181	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTATGCAAT	NONE	.	.	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4	.	.	ENSP00000416040	.	2/20	.	.	.	.	.	.	.	.	.	2/20	PASS	ENST00000422774	Transcript	.	.	ENSG00000122778	22219	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated(0.06)	.	K1549_HUMAN	KIAA1549	HGNC	.	.	UPI0001837EBD	SNV	KIAA1549,missense_variant,p.His394Arg,ENST00000422774,;KIAA1549,missense_variant,p.His344Arg,ENST00000242365,;KIAA1549,missense_variant,p.His394Arg,ENST00000440172,;	1230	144	134	SUCCESS
PTPRN2	5799	.	GRCh37	7	157926453	157926453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	51	0	ENST00000389418.4:c.1472C>A	p.Ala491Asp	p.A491D	ENST00000389418	NM_002847.3	491	gCt/gAt	0	.	.	.	.	.	T	A/D	protein_coding	YES	CCDS5947.1	1472	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGAGCACCC	BUFFER|p.E493K|c.1477G>A|3	.	.	.	.	.	ENSP00000374069	.	9/23	.	.	.	.	.	.	.	.	.	9/23	PASS	ENST00000389418	Transcript	.	.	ENSG00000155093	9677	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.216)	.	tolerated(0.14)	.	PTPR2_HUMAN	PTPRN2	HGNC	Q9NSR5_HUMAN	.	UPI000002E7C7	SNV	PTPRN2,missense_variant,p.Ala453Asp,ENST00000409483,;PTPRN2,missense_variant,p.Ala474Asp,ENST00000389416,;PTPRN2,missense_variant,p.Ala514Asp,ENST00000404321,;PTPRN2,missense_variant,p.Ala491Asp,ENST00000389418,;PTPRN2,missense_variant,p.Ala491Asp,ENST00000389413,;	1482	51	38	SUCCESS
WDR60	0	.	GRCh37	7	158715203	158715203	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	41	130	0	ENST00000407559.3:c.2057C>A	p.Pro686His	p.P686H	ENST00000407559	NM_018051.4	686	cCt/cAt	0	.	.	.	.	.	A	P/H	protein_coding	YES	CCDS47757.1	2057	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCTTCAG	NONE	.	.	hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	.	.	ENSP00000384290	.	16/25	.	.	.	.	.	.	.	.	.	16/25	PASS	ENST00000407559	Transcript	.	.	ENSG00000126870	21862	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.953)	.	deleterious(0)	.	WDR60_HUMAN	WDR60	HGNC	H7C1E8_HUMAN,A4D230_HUMAN	.	UPI000020E761	SNV	WDR60,missense_variant,p.Pro686His,ENST00000407559,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;WDR60,intron_variant,,ENST00000444851,;	2215	130	104	SUCCESS
ADCY1	107	.	GRCh37	7	45750131	45750131	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	34	104	0	ENST00000297323.7:c.2937C>T	p.Ile979=	p.I979=	ENST00000297323	NM_021116.2	979	atC/atT	0	.	.	.	.	.	T	I	protein_coding	YES	CCDS34631.1	2937	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCATCAATGT	NONE	.	.	PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF20,hmmpanther:PTHR11920,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073	.	.	ENSP00000297323	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000297323	Transcript	.	.	ENSG00000164742	232	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADCY1_HUMAN	ADCY1	HGNC	Q8NFM5_HUMAN,D3DVL8_HUMAN	.	UPI0000199C4A	SNV	ADCY1,synonymous_variant,p.%3D,ENST00000297323,;	2959	104	87	SUCCESS
SEMA3D	223117	.	GRCh37	7	84651739	84651739	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs1418234177	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	54	110	0	ENST00000284136.6:c.1382A>T	p.Asp461Val	p.D461V	ENST00000284136	NM_152754.2	461	gAt/gTt	0	.	.	.	.	.	A	D/V	protein_coding	YES	CCDS34676.1	1382	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCATCTTCT	BUFFER|p.D465N|c.1393G>A|4	.	.	Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,PROSITE_profiles:PS51004	.	.	ENSP00000284136	.	11/17	.	.	.	.	.	.	.	.	.	11/17	PASS	ENST00000284136	Transcript	.	.	ENSG00000153993	10726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	SEM3D_HUMAN	SEMA3D	HGNC	.	.	UPI0000135A66	SNV	SEMA3D,missense_variant,p.Asp461Val,ENST00000284136,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;	1426	110	133	SUCCESS
ABCB1	5243	.	GRCh37	7	87195498	87195498	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	52	194	0	ENST00000265724.3:c.590T>A	p.Met197Lys	p.M197K	ENST00000265724	NM_000927.4	197	aTg/aAg	0	.	.	.	.	.	T	M/K	protein_coding	YES	CCDS5608.1	590	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATTGAC	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	.	.	ENSP00000265724	.	8/29	.	.	.	.	.	.	.	.	.	8/29	PASS	ENST00000265724	Transcript	.	.	ENSG00000085563	40	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	deleterious(0.02)	.	MDR1_HUMAN	ABCB1	HGNC	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN	.	UPI000013D66C	SNV	ABCB1,missense_variant,p.Met197Lys,ENST00000265724,;ABCB1,missense_variant,p.Met133Lys,ENST00000543898,;	1008	194	152	SUCCESS
ATAD2	29028	.	GRCh37	8	124369923	124369923	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	178	39	123	0	ENST00000287394.5:c.1436C>T	p.Ala479Val	p.A479V	ENST00000287394	NM_014109.3	479	gCa/gTa	0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS6343.1	1436	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGTGCTCTG	NONE	.	.	hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	.	.	ENSP00000287394	.	12/28	.	.	.	.	.	.	.	.	.	12/28	PASS	ENST00000287394	Transcript	.	.	ENSG00000156802	30123	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.999)	.	deleterious(0.02)	.	ATAD2_HUMAN	ATAD2	HGNC	.	.	UPI0000052A8C	SNV	ATAD2,missense_variant,p.Ala479Val,ENST00000287394,;ATAD2,5_prime_UTR_variant,,ENST00000521903,;ATAD2,downstream_gene_variant,,ENST00000534257,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;ATAD2,upstream_gene_variant,,ENST00000550993,;	1544	123	217	SUCCESS
BAI1	0	.	GRCh37	8	143624960	143624960	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	476	236	393	0	ENST00000323289.5:c.4450-2A>G		p.X1484_splice	ENST00000323289	NM_001702.2	1484		0	.	.	.	.	.	G	.	protein_coding	YES	CCDS64985.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCAGAAGA	NONE	.	.	.	.	.	ENSP00000430945	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	HIGH	29/30	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,splice_acceptor_variant,,ENST00000323289,;BAI1,splice_acceptor_variant,,ENST00000517894,;BAI1,splice_acceptor_variant,,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518812,;BAI1,downstream_gene_variant,,ENST00000518820,;	.	393	712	SUCCESS
RHOBTB2	23221	.	GRCh37	8	22865129	22865129	+	synonymous_variant	Silent	SNP	C	C	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	30	89	0	ENST00000251822.6:c.1371C>G	p.Val457=	p.V457=	ENST00000251822	NM_015178.2	457	gtC/gtG	0	.	.	.	.	.	G	V	protein_coding	YES	CCDS55210.1	1437	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCTTTGA	NONE	.	.	Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000427926	.	7/12	.	.	.	.	.	.	.	.	.	7/12	PASS	ENST00000519685	Transcript	.	.	ENSG00000008853	18756	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RHOBTB2	HGNC	E9PBU2_HUMAN,E5RI44_HUMAN	.	UPI000020FD0D	SNV	RHOBTB2,synonymous_variant,p.%3D,ENST00000522948,;RHOBTB2,synonymous_variant,p.%3D,ENST00000519685,;RHOBTB2,synonymous_variant,p.%3D,ENST00000251822,;RHOBTB2,downstream_gene_variant,,ENST00000524077,;RP11-875O11.1,non_coding_transcript_exon_variant,,ENST00000502083,;RP11-875O11.1,upstream_gene_variant,,ENST00000523884,;RHOBTB2,downstream_gene_variant,,ENST00000523918,;RHOBTB2,downstream_gene_variant,,ENST00000517528,;RHOBTB2,upstream_gene_variant,,ENST00000519210,;	1720	89	53	SUCCESS
NUGGC	389643	.	GRCh37	8	27888861	27888861	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs746082643	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	10	125	0	ENST00000413272.2:c.1807A>G	p.Ile603Val	p.I603V	ENST00000413272	NM_001010906.1	603	Ata/Gta	0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS47833.1	1807	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTATGTGAG	NONE	byFrequency	.	.	.	.	ENSP00000408697	.	15/19	.	.	.	.	.	.	.	.	rs746082643	15/19	PASS	ENST00000413272	Transcript	.	.	ENSG00000189233	33550	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	deleterious(0.04)	.	SLIP_HUMAN	NUGGC	HGNC	.	.	UPI0000237454	SNV	NUGGC,missense_variant,p.Ile603Val,ENST00000413272,;NUGGC,missense_variant,p.Ile603Val,ENST00000341513,;	1950	125	53	SUCCESS
MCM4	4173	.	GRCh37	8	48883070	48883070	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	219	11	108	0	ENST00000262105.2:c.1435-1G>A		p.X479_splice	ENST00000262105	NM_005914.3	479		0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6143.1	.	MUTECT|MUSE	.	ATTTAGGGAAT	NONE	.	.	.	.	.	ENSP00000262105	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262105	Transcript	1	.	ENSG00000104738	6947	.	.	HIGH	10/15	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCM4_HUMAN	MCM4	HGNC	E5RFR3_HUMAN,E5RFJ8_HUMAN,A4FS09_HUMAN	.	UPI000013D25C	SNV	MCM4,splice_acceptor_variant,,ENST00000520637,;MCM4,splice_acceptor_variant,,ENST00000262105,;MCM4,splice_acceptor_variant,,ENST00000523944,;MCM4,splice_acceptor_variant,,ENST00000518680,;MCM4,splice_acceptor_variant,,ENST00000517709,;MCM4,non_coding_transcript_exon_variant,,ENST00000519470,;MCM4,upstream_gene_variant,,ENST00000521261,;MCM4,upstream_gene_variant,,ENST00000523853,;MCM4,upstream_gene_variant,,ENST00000518382,;MCM4,upstream_gene_variant,,ENST00000521151,;MCM4,downstream_gene_variant,,ENST00000519138,;	.	108	231	SUCCESS
CLVS1	157807	.	GRCh37	8	62212607	62212607	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	166	110	1	ENST00000325897.4:c.221C>A	p.Ala74Asp	p.A74D	ENST00000325897	NM_173519.2	74	gCc/gAc	0	.	.	.	.	.	A	A/D	protein_coding	YES	CCDS6176.1	221	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATGCCTTCA	NONE	.	.	Superfamily_domains:SSF46938,SMART_domains:SM01100,Pfam_domain:PF03765,Gene3D:3.40.525.10,hmmpanther:PTHR10174:SF72,hmmpanther:PTHR10174	.	.	ENSP00000428402	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000519846	Transcript	.	.	ENSG00000177182	23139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.029)	.	tolerated(0.32)	.	CLVS1_HUMAN	CLVS1	HGNC	G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN	.	UPI000007472D	SNV	CLVS1,missense_variant,p.Ala74Asp,ENST00000519846,;CLVS1,missense_variant,p.Ala74Asp,ENST00000325897,;CLVS1,missense_variant,p.Ala74Asp,ENST00000522621,;CLVS1,intron_variant,,ENST00000518592,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;RP11-787D18.1,downstream_gene_variant,,ENST00000518064,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;CLVS1,downstream_gene_variant,,ENST00000523868,;	693	112	237	SUCCESS
MTFR1	9650	.	GRCh37	8	66582142	66582142	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	196	50	119	0	ENST00000262146.4:c.-46T>A		p.*16*	ENST00000262146	NM_014637.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6182.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTGAAGA	NONE	.	.	.	.	.	ENSP00000262146	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000262146	Transcript	.	.	ENSG00000066855	29510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MTFR1_HUMAN	MTFR1	HGNC	E5RJS5_HUMAN	.	UPI000000DA55	SNV	MTFR1,5_prime_UTR_variant,,ENST00000262146,;MTFR1,5_prime_UTR_variant,,ENST00000458689,;MTFR1,upstream_gene_variant,,ENST00000518800,;MTFR1,non_coding_transcript_exon_variant,,ENST00000523170,;MTFR1,non_coding_transcript_exon_variant,,ENST00000517944,;MTFR1,non_coding_transcript_exon_variant,,ENST00000522239,;MTFR1,5_prime_UTR_variant,,ENST00000523222,;MTFR1,non_coding_transcript_exon_variant,,ENST00000424808,;	81	119	246	SUCCESS
CALB1	793	.	GRCh37	8	91095028	91095028	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	18	72	0	ENST00000265431.3:c.-103C>T		p.*35*	ENST00000265431	NM_004929.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6251.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGGAGGGA	NONE	.	.	.	.	.	ENSP00000265431	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000265431	Transcript	.	.	ENSG00000104327	1434	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CALB1_HUMAN	CALB1	HGNC	O75552_HUMAN,E5RIZ8_HUMAN,E5RG14_HUMAN,B7Z9J4_HUMAN	.	UPI000013D620	SNV	CALB1,5_prime_UTR_variant,,ENST00000265431,;CALB1,intron_variant,,ENST00000514406,;CALB1,intron_variant,,ENST00000520613,;CALB1,intron_variant,,ENST00000523716,;CALB1,upstream_gene_variant,,ENST00000518457,;CALB1,non_coding_transcript_exon_variant,,ENST00000482702,;CALB1,upstream_gene_variant,,ENST00000473670,;CALB1,upstream_gene_variant,,ENST00000476853,;	80	72	114	SUCCESS
TMEM2	0	.	GRCh37	9	74365256	74365256	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs764831667	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	92	0	ENST00000377044.4:c.34G>T	p.Ala12Ser	p.A12S	ENST00000377044	NM_013390.2	12	Gct/Tct	0	.	.	.	.	.	A	A/S	protein_coding	YES	CCDS6638.1	34	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCAGGGG	NONE	byFrequency	.	hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17	.	.	ENSP00000366243	.	2/24	.	.	.	.	.	.	.	.	rs764831667	2/24	PASS	ENST00000377044	Transcript	.	.	ENSG00000135048	11869	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.24)	.	tolerated_low_confidence(0.07)	.	TMEM2_HUMAN	TMEM2	HGNC	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN	.	UPI0000071E8D	SNV	TMEM2,missense_variant,p.Ala12Ser,ENST00000377066,;TMEM2,missense_variant,p.Ala12Ser,ENST00000377044,;TMEM2,missense_variant,p.Ala12Ser,ENST00000545719,;TMEM2,missense_variant,p.Ala12Ser,ENST00000542935,;TMEM2,non_coding_transcript_exon_variant,,ENST00000543165,;	574	93	81	SUCCESS
WNK2	65268	.	GRCh37	9	96070795	96070795	+	synonymous_variant	Silent	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	202	32	243	0	ENST00000297954.4:c.6556C>T	p.Leu2186=	p.L2186=	ENST00000297954	NM_001282394.1	2186	Ctg/Ttg	0	.	.	.	.	.	T	L	protein_coding	YES	.	6556	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGCTGAAG	NONE	.	.	hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,Low_complexity_(Seg):seg	.	.	ENSP00000297954	.	28/30	.	.	.	.	.	.	.	.	.	28/30	PASS	ENST00000297954	Transcript	.	.	ENSG00000165238	14542	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WNK2_HUMAN	WNK2	HGNC	.	.	UPI0000236D76	SNV	WNK2,synonymous_variant,p.%3D,ENST00000432730,;WNK2,synonymous_variant,p.%3D,ENST00000427277,;WNK2,synonymous_variant,p.%3D,ENST00000349097,;WNK2,synonymous_variant,p.%3D,ENST00000411624,;WNK2,synonymous_variant,p.%3D,ENST00000297954,;WNK2,synonymous_variant,p.%3D,ENST00000453718,;WNK2,synonymous_variant,p.%3D,ENST00000448251,;WNK2,synonymous_variant,p.%3D,ENST00000395477,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,3_prime_UTR_variant,,ENST00000356055,;WNK2,non_coding_transcript_exon_variant,,ENST00000460335,;WNK2,non_coding_transcript_exon_variant,,ENST00000474009,;WNK2,non_coding_transcript_exon_variant,,ENST00000467401,;	6556	243	234	SUCCESS
MIR363	574031	.	GRCh37	X	133303476	133303476	+	mature_miRNA_variant	RNA	SNP	G	G	T	rs774988958	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	301	199	0	ENST00000384840.1:n.7C>A		p.*3*	ENST00000384840				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGACAAC	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	rs774988958	1/1	PASS	ENST00000384840	Transcript	.	.	ENSG00000207572	32023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR363	HGNC	.	.	.	SNV	MIR363,non_coding_transcript_exon_variant,,ENST00000384840,;MIR18B,downstream_gene_variant,,ENST00000454574,;MIR106A,downstream_gene_variant,,ENST00000384870,;MIR20B,downstream_gene_variant,,ENST00000384977,;MIR19B2,downstream_gene_variant,,ENST00000385077,;MIR92A2,downstream_gene_variant,,ENST00000385299,;TIMM8BP2,downstream_gene_variant,,ENST00000445940,;	7	199	359	SUCCESS
PPP2R3B	28227	.	GRCh37	X	306923	306923	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	53	0	ENST00000390665.3:c.865A>G	p.Ser289Gly	p.S289G	ENST00000390665	NM_013239.4	289	Agc/Ggc	0	.	.	.	.	.	C	S/G	protein_coding	YES	CCDS14104.1	865	RADIA|MUTECT|MUSE	.	GGAGCTCCTCC	NONE	.	.	hmmpanther:PTHR14095	.	.	ENSP00000375080	.	6/13	.	.	.	.	.	.	.	.	.	6/13	PASS	ENST00000390665	Transcript	.	.	ENSG00000167393	13417	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.26)	.	deleterious(0.05)	.	P2R3B_HUMAN	PPP2R3B	HGNC	Q96FD8_HUMAN	.	UPI00001BB8B8	SNV	PPP2R3B,missense_variant,p.Ser289Gly,ENST00000390665,;PPP2R3B,downstream_gene_variant,,ENST00000381625,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000445792,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000477636,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000477110,;PPP2R3B,downstream_gene_variant,,ENST00000475859,;PPP2R3B,downstream_gene_variant,,ENST00000496630,;PPP2R3B,upstream_gene_variant,,ENST00000479438,;PPP2R3B,upstream_gene_variant,,ENST00000484364,;PPP2R3B,upstream_gene_variant,,ENST00000468169,;	884	53	40	SUCCESS
HERC2P3	283755	.	GRCh37	15	20644321	20644321	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs745608309	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	14	275	0	ENST00000428453.1:n.3243C>T		p.*1081*	ENST00000428453				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	MUTECT|MUSE	.	CTGCTGTGGGT	NONE	.	.	.	.	.	.	.	22/27	.	.	.	.	.	.	.	.	rs745608309	22/27	PASS	ENST00000428453	Transcript	.	.	ENSG00000180229	4871	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HERC2P3	HGNC	.	.	.	SNV	HERC2P3,non_coding_transcript_exon_variant,,ENST00000437318,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000428453,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000430598,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000426501,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000424611,;HERC2P3,downstream_gene_variant,,ENST00000436934,;HERC2P3,downstream_gene_variant,,ENST00000454045,;HERC2P3,non_coding_transcript_exon_variant,,ENST00000429257,;HERC2P3,downstream_gene_variant,,ENST00000545640,;	3243	275	183	SUCCESS
TUBA1B	10376	.	GRCh37	12	49525128	49525128	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	47	111	0	ENST00000336023.5:c.-45C>A		p.*15*	ENST00000336023	NM_006082.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31792.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGGGTCCC	NONE	.	.	.	.	.	ENSP00000336799	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000336023	Transcript	.	.	ENSG00000123416	18809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBA1B_HUMAN	TUBA1B	HGNC	F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN,C9JDS9_HUMAN	.	UPI00000015EA	SNV	TUBA1B,5_prime_UTR_variant,,ENST00000550367,;TUBA1B,5_prime_UTR_variant,,ENST00000336023,;TUBA1B,5_prime_UTR_variant,,ENST00000552984,;TUBA1B,5_prime_UTR_variant,,ENST00000547476,;TUBA1B,upstream_gene_variant,,ENST00000549870,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000547712,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000547387,;RP11-386G11.10,downstream_gene_variant,,ENST00000548149,;Y_RNA,downstream_gene_variant,,ENST00000363439,;RP11-386G11.10,upstream_gene_variant,,ENST00000551496,;RP11-386G11.10,downstream_gene_variant,,ENST00000552893,;TUBA1B,5_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000551324,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;	51	111	125	SUCCESS
PCDH15	65217	.	GRCh37	10	55581514	55581514	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs543424249	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	16	0	ENST00000320301.6:c.*104A>T			ENST00000320301	NM_033056.3			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS44404.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAATTTGGG	NONE	by1000G	.	.	A:0	.	ENSP00000354950	A:0	34/34	.	.	.	.	.	.	.	.	rs543424249	34/34	PASS	ENST00000361849	Transcript	1	A:0.0002	ENSG00000150275	14674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	PCDH15	HGNC	A2A3E7_HUMAN,A2A3D9_HUMAN	.	UPI0000EE048B	SNV	PCDH15,3_prime_UTR_variant,,ENST00000395433,;PCDH15,3_prime_UTR_variant,,ENST00000320301,;PCDH15,3_prime_UTR_variant,,ENST00000395432,;PCDH15,3_prime_UTR_variant,,ENST00000373957,;PCDH15,3_prime_UTR_variant,,ENST00000361849,;PCDH15,3_prime_UTR_variant,,ENST00000395430,;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000373965,;PCDH15,downstream_gene_variant,,ENST00000437009,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	6373	16	21	SUCCESS
DDI1	414301	.	GRCh37	11	103909294	103909294	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs116245676	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	140	32	144	0	ENST00000302259.3:c.*553C>A			ENST00000302259	NM_001001711.2			0	.	T:0.0189	.	T:0.0029	.	A	.	protein_coding	YES	CCDS31660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCAATTT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000302805	T:0	1/1	.	.	.	.	.	.	.	.	rs116245676	1/1	PASS	ENST00000302259	Transcript	.	T:0.0054	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1987	144	173	SUCCESS
NGB	58157	.	GRCh37	14	77732506	77732506	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	8	68	0	ENST00000298352.4:c.*373G>A			ENST00000298352	NM_021257.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9856.1	.	MUTECT|MUSE	.	GCCTGCACTCA	NONE	.	.	.	.	.	ENSP00000298352	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298352	Transcript	.	.	ENSG00000165553	14077	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NGB_HUMAN	NGB	HGNC	A0M8W9_HUMAN	.	UPI0000073D72	SNV	NGB,3_prime_UTR_variant,,ENST00000298352,;MIR1260A,upstream_gene_variant,,ENST00000408827,;	1204	68	69	SUCCESS
PIAS1	8554	.	GRCh37	15	68480341	68480341	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs948278071	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	22	0	ENST00000249636.6:c.*168A>G			ENST00000249636	NM_016166.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45290.1	.	MUTECT|MUSE	.	AAACTATATTT	NONE	.	.	.	.	.	ENSP00000249636	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000249636	Transcript	.	.	ENSG00000033800	2752	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PIAS1_HUMAN	PIAS1	HGNC	Q1XBU8_HUMAN	.	UPI0000131A8C	SNV	PIAS1,3_prime_UTR_variant,,ENST00000545237,;PIAS1,3_prime_UTR_variant,,ENST00000249636,;CALML4,downstream_gene_variant,,ENST00000395465,;CALML4,downstream_gene_variant,,ENST00000448060,;PIAS1,3_prime_UTR_variant,,ENST00000563996,;CALML4,downstream_gene_variant,,ENST00000478113,;	2272	22	17	SUCCESS
C16orf72	29035	.	GRCh37	16	9210886	9210886	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1285204009	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	37	0	ENST00000327827.7:c.*117G>T			ENST00000327827	NM_014117.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10538.1	.	MUTECT|MUSE	.	CAAGTGAATTC	NONE	.	.	.	.	.	ENSP00000331720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000327827	Transcript	.	.	ENSG00000182831	30103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP072_HUMAN	C16orf72	HGNC	.	.	UPI00001E0574	SNV	C16orf72,3_prime_UTR_variant,,ENST00000327827,;RP11-473I1.10,downstream_gene_variant,,ENST00000574616,;	1342	37	41	SUCCESS
LRRC37A4P	55073	.	GRCh37	17	43585464	43585464	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	29	140	1				ENST00000581296				0	.	.	.	.	.	T	.	transcribed_unprocessed_pseudogene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGGGTTC	NONE	.	11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000581296	Transcript	.	.	ENSG00000214425	25479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LRRC37A4P	HGNC	.	.	.	SNV	RP11-798G7.5,intron_variant,,ENST00000253803,;LRRC37A4P,non_coding_transcript_exon_variant,,ENST00000579913,;LRRC37A4P,intron_variant,,ENST00000398305,;LRRC37A4P,downstream_gene_variant,,ENST00000581296,;	.	141	126	SUCCESS
AKT1S1	84335	.	GRCh37	19	50373106	50373106	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1186422610	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	25	167	1	ENST00000344175.5:c.*68G>A			ENST00000344175	NM_001098633.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59410.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCCGGGA	NONE	.	.	.	.	.	ENSP00000375711	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000391835	Transcript	.	.	ENSG00000204673	28426	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKTS1_HUMAN	AKT1S1	HGNC	M0R2V8_HUMAN,H9KV91_HUMAN	.	UPI00004A2415	SNV	AKT1S1,3_prime_UTR_variant,,ENST00000391835,;AKT1S1,3_prime_UTR_variant,,ENST00000391832,;AKT1S1,3_prime_UTR_variant,,ENST00000344175,;AKT1S1,3_prime_UTR_variant,,ENST00000391833,;AKT1S1,3_prime_UTR_variant,,ENST00000391831,;AKT1S1,3_prime_UTR_variant,,ENST00000391834,;PNKP,upstream_gene_variant,,ENST00000322344,;PNKP,upstream_gene_variant,,ENST00000600910,;PNKP,upstream_gene_variant,,ENST00000596014,;AKT1S1,downstream_gene_variant,,ENST00000391830,;PNKP,upstream_gene_variant,,ENST00000596726,;AKT1S1,downstream_gene_variant,,ENST00000599525,;PNKP,upstream_gene_variant,,ENST00000599543,;PNKP,upstream_gene_variant,,ENST00000600573,;PNKP,upstream_gene_variant,,ENST00000595792,;PNKP,upstream_gene_variant,,ENST00000594661,;PNKP,upstream_gene_variant,,ENST00000593946,;PNKP,upstream_gene_variant,,ENST00000598020,;	2272	168	139	SUCCESS
FPR2	2358	.	GRCh37	19	52272999	52272999	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs368364964	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	25	130	0	ENST00000340023.6:c.*32C>G			ENST00000340023	NM_001005738.1			0	T:0.0002	.	.	.	.	G	.	protein_coding	YES	CCDS12840.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTTCATCCT	NONE	byCluster	.	.	.	T:0	ENSP00000468897	.	2/2	.	.	.	.	.	.	.	.	rs368364964	2/2	PASS	ENST00000598776	Transcript	.	.	ENSG00000171049	3827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FPR2_HUMAN	FPR2	HGNC	M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN	.	UPI00000012D0	SNV	FPR2,3_prime_UTR_variant,,ENST00000340023,;FPR2,3_prime_UTR_variant,,ENST00000598953,;FPR2,3_prime_UTR_variant,,ENST00000598776,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000599326,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000600722,;	1860	130	131	SUCCESS
IGFN1	91156	.	GRCh37	1	201195085	201195085	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs779335394	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	34	128	0	ENST00000295591.8:c.*77G>T			ENST00000295591		3540		0	.	.	.	.	.	T	A	protein_coding	YES	CCDS53455.1	10620	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCACGG	NONE	byFrequency	.	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145,PROSITE_profiles:PS50853	.	.	ENSP00000334714	.	22/24	.	.	.	.	.	.	.	.	rs779335394	22/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,synonymous_variant,p.%3D,ENST00000412892,;IGFN1,synonymous_variant,p.%3D,ENST00000335211,;IGFN1,3_prime_UTR_variant,,ENST00000295591,;RP11-567E21.3,upstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	10750	128	132	SUCCESS
ASB17	127247	.	GRCh37	1	76384589	76384589	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs774436837	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	33	118	0	ENST00000284142.6:c.*48C>T			ENST00000284142	NM_080868.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS671.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAAGCCATA	NONE	.	.	.	.	.	ENSP00000284142	.	3/3	.	.	.	.	.	.	.	.	rs774436837	3/3	PASS	ENST00000284142	Transcript	.	.	ENSG00000154007	19769	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB17_HUMAN	ASB17	HGNC	.	.	UPI0000073CD7	SNV	ASB17,3_prime_UTR_variant,,ENST00000284142,;	1076	118	133	SUCCESS
ARHGAP29	9411	.	GRCh37	1	94639375	94639375	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs761956442	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	28	0	ENST00000260526.6:c.*50A>G			ENST00000260526	NM_004815.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS748.1	.	MUTECT|MUSE	.	CACAATACCAC	NONE	byFrequency	.	.	.	.	ENSP00000260526	.	23/23	.	.	.	.	.	.	.	.	rs761956442	23/23	PASS	ENST00000260526	Transcript	.	.	ENSG00000137962	30207	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG29_HUMAN	ARHGAP29	HGNC	.	.	UPI000013D0E4	SNV	ARHGAP29,3_prime_UTR_variant,,ENST00000260526,;ARHGAP29,downstream_gene_variant,,ENST00000482481,;ARHGAP29,intron_variant,,ENST00000552844,;	4019	28	34	SUCCESS
PAX3	5077	.	GRCh37	2	223066070	223066070	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	177	31	182	0	ENST00000350526.4:c.*573del			ENST00000350526	NM_181457.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2448.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCATATCTAG	NONE	.	.	.	.	.	ENSP00000375921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	deletion	PAX3,3_prime_UTR_variant,,ENST00000392070,;PAX3,3_prime_UTR_variant,,ENST00000344493,;PAX3,3_prime_UTR_variant,,ENST00000350526,;PAX3,intron_variant,,ENST00000336840,;PAX3,intron_variant,,ENST00000392069,;PAX3,downstream_gene_variant,,ENST00000409551,;PAX3,downstream_gene_variant,,ENST00000464706,;PAX3,downstream_gene_variant,,ENST00000555548,;	.	182	208	SUCCESS
TMEM17	200728	.	GRCh37	2	62728333	62728333	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1307037945	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	4	75	0	ENST00000335390.5:c.*11T>C			ENST00000335390	NM_198276.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1871.1	.	MUTECT|MUSE	.	ACTCAACAACA	NONE	.	.	.	.	.	ENSP00000335094	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000335390	Transcript	.	.	ENSG00000186889	26623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM17_HUMAN	TMEM17	HGNC	.	.	UPI00001602DD	SNV	TMEM17,3_prime_UTR_variant,,ENST00000335390,;TMEM17,non_coding_transcript_exon_variant,,ENST00000494919,;TMEM17,non_coding_transcript_exon_variant,,ENST00000479763,;	820	75	75	SUCCESS
EGR4	1961	.	GRCh37	2	73518428	73518428	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	35	0	ENST00000545030.1:c.*157C>A			ENST00000545030	NM_001965.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1925.2	.	MUTECT|MUSE	.	GAATAGGGCGT	NONE	.	.	.	.	.	ENSP00000445626	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000545030	Transcript	.	.	ENSG00000135625	3241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EGR4_HUMAN	EGR4	HGNC	B7ZKU3_HUMAN	.	UPI0000EE25D4	SNV	EGR4,3_prime_UTR_variant,,ENST00000545030,;EGR4,3_prime_UTR_variant,,ENST00000436467,;	2002	35	27	SUCCESS
EGR4	1961	.	GRCh37	2	73518429	73518429	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	33	0	ENST00000545030.1:c.*156C>A			ENST00000545030	NM_001965.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1925.2	.	MUTECT|MUSE	.	AATAGGGCGTG	NONE	.	.	.	.	.	ENSP00000445626	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000545030	Transcript	.	.	ENSG00000135625	3241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EGR4_HUMAN	EGR4	HGNC	B7ZKU3_HUMAN	.	UPI0000EE25D4	SNV	EGR4,3_prime_UTR_variant,,ENST00000545030,;EGR4,3_prime_UTR_variant,,ENST00000436467,;	2001	33	28	SUCCESS
MUT	0	.	GRCh37	6	49399282	49399282	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	39	110	0	ENST00000274813.3:c.*159A>G			ENST00000274813	NM_000255.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4924.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTATAGCAT	NONE	.	.	.	.	.	ENSP00000274813	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,3_prime_UTR_variant,,ENST00000274813,;	2540	110	133	SUCCESS
POU3F2	5454	.	GRCh37	6	99286161	99286161	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2V-A95S-01	TCGA-2V-A95S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	102	0	ENST00000328345.5:c.*2080C>T			ENST00000328345	NM_005604.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5040.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAGCCACTG	NONE	.	.	.	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	3582	102	97	SUCCESS
MYO5C	55930	.	GRCh37	15	52486024	52486024	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	37	0	ENST00000261839.7:c.*75T>A			ENST00000261839	NM_018728.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42036.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCAATTAA	NONE	.	.	.	.	.	ENSP00000261839	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000261839	Transcript	.	.	ENSG00000128833	7604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO5C_HUMAN	MYO5C	HGNC	Q14783_HUMAN,H0YM93_HUMAN	.	UPI000013D20E	SNV	MYO5C,3_prime_UTR_variant,,ENST00000261839,;GNB5,upstream_gene_variant,,ENST00000261837,;RP11-430B1.2,intron_variant,,ENST00000559779,;RP11-430B1.2,intron_variant,,ENST00000560518,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;GNB5,upstream_gene_variant,,ENST00000560075,;	5466	37	38	SUCCESS
AATK	9625	.	GRCh37	17	79092088	79092088	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	47	0	ENST00000326724.4:c.*114A>C			ENST00000326724	NM_001080395.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45807.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAATCTGCT	NONE	.	.	.	.	.	ENSP00000324196	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000326724	Transcript	.	.	ENSG00000181409	21	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMTK1_HUMAN	AATK	HGNC	H7C175_HUMAN	.	UPI000041EA63	SNV	AATK,3_prime_UTR_variant,,ENST00000326724,;AATK,3_prime_UTR_variant,,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000575245,;BAIAP2,downstream_gene_variant,,ENST00000392411,;BAIAP2,downstream_gene_variant,,ENST00000428708,;BAIAP2,downstream_gene_variant,,ENST00000435091,;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000321300,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,non_coding_transcript_exon_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	4264	47	53	SUCCESS
ITPKB	3707	.	GRCh37	1	226822232	226822232	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	21	0	ENST00000272117.3:c.*140T>G			ENST00000272117				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1555.1	.	MUTECT|MUSE	.	CTCTCATCTCC	NONE	.	.	.	.	.	ENSP00000411152	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000429204	Transcript	.	.	ENSG00000143772	6179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IP3KB_HUMAN	ITPKB	HGNC	.	.	UPI000013D92B	SNV	ITPKB,3_prime_UTR_variant,,ENST00000272117,;ITPKB,3_prime_UTR_variant,,ENST00000429204,;	3309	21	25	SUCCESS
PDSS2	57107	.	GRCh37	6	107475656	107475656	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	17	0	ENST00000369037.4:c.*167C>G			ENST00000369037	NM_020381.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5059.1	.	MUTECT|MUSE	.	ATTTTGTTTGT	NONE	.	.	.	.	.	ENSP00000358033	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369037	Transcript	.	.	ENSG00000164494	23041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DLP1_HUMAN	PDSS2	HGNC	B4DWD3_HUMAN	.	UPI000013E3B4	SNV	PDSS2,3_prime_UTR_variant,,ENST00000453874,;PDSS2,3_prime_UTR_variant,,ENST00000369037,;	1645	17	18	SUCCESS
PDIA4	9601	.	GRCh37	7	148700237	148700237	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	32	0	ENST00000286091.4:c.*649T>G			ENST00000286091	NM_004911.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5893.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCCAGGGTC	NONE	.	.	.	.	.	ENSP00000286091	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000286091	Transcript	.	.	ENSG00000155660	30167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIA4_HUMAN	PDIA4	HGNC	.	.	UPI000004062C	SNV	PDIA4,3_prime_UTR_variant,,ENST00000286091,;PDIA4,downstream_gene_variant,,ENST00000466592,;	2820	32	39	SUCCESS
SMARCA2	6595	.	GRCh37	9	2192840	2192840	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs749591740	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	43	0	ENST00000349721.2:c.*101A>G			ENST00000349721	NM_003070.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34977.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTATATCA	NONE	byCluster	.	.	.	.	ENSP00000371638	.	34/34	.	.	.	.	.	.	.	.	rs749591740	34/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,3_prime_UTR_variant,,ENST00000382203,;SMARCA2,3_prime_UTR_variant,,ENST00000357248,;SMARCA2,3_prime_UTR_variant,,ENST00000349721,;SMARCA2,3_prime_UTR_variant,,ENST00000382185,;SMARCA2,3_prime_UTR_variant,,ENST00000302401,;SMARCA2,3_prime_UTR_variant,,ENST00000382194,;SMARCA2,3_prime_UTR_variant,,ENST00000382183,;SMARCA2,3_prime_UTR_variant,,ENST00000324954,;SMARCA2,downstream_gene_variant,,ENST00000382186,;SMARCA2,downstream_gene_variant,,ENST00000417599,;	5083	43	30	SUCCESS
SMARCA2	6595	.	GRCh37	9	2192909	2192909	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	24	0	ENST00000349721.2:c.*170A>C			ENST00000349721	NM_003070.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34977.1	.	RADIA|MUTECT|MUSE	.	AAAAAACACAC	NONE	.	.	.	.	.	ENSP00000371638	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000382203	Transcript	.	.	ENSG00000080503	11098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMCA2_HUMAN	SMARCA2	HGNC	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN	.	UPI00001AE8EB	SNV	SMARCA2,3_prime_UTR_variant,,ENST00000382203,;SMARCA2,3_prime_UTR_variant,,ENST00000357248,;SMARCA2,3_prime_UTR_variant,,ENST00000349721,;SMARCA2,3_prime_UTR_variant,,ENST00000382185,;SMARCA2,3_prime_UTR_variant,,ENST00000302401,;SMARCA2,3_prime_UTR_variant,,ENST00000382194,;SMARCA2,3_prime_UTR_variant,,ENST00000382183,;SMARCA2,downstream_gene_variant,,ENST00000382186,;SMARCA2,downstream_gene_variant,,ENST00000417599,;SMARCA2,downstream_gene_variant,,ENST00000324954,;	5152	24	16	SUCCESS
PPAPDC2	0	.	GRCh37	9	4664382	4664382	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GS-01	TCGA-2Y-A9GS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	39	117	0	ENST00000381883.2:c.*1119G>A			ENST00000381883	NM_203453.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34981.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACAGCACAT	NONE	.	.	.	.	.	ENSP00000371307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381883	Transcript	.	.	ENSG00000205808	23682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAC2_HUMAN	PPAPDC2	HGNC	.	.	UPI00000529F4	SNV	PPAPDC2,3_prime_UTR_variant,,ENST00000381883,;SPATA6L,intron_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000381890,;SPATA6L,intron_variant,,ENST00000454239,;SPATA6L,intron_variant,,ENST00000485981,;SPATA6L,intron_variant,,ENST00000497383,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,intron_variant,,ENST00000496798,;SPATA6L,intron_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000461761,;SPATA6L,intron_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000471669,;SPATA6L,intron_variant,,ENST00000406861,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,intron_variant,,ENST00000486047,;	2085	117	87	SUCCESS
TP53TG3D	729264	.	GRCh37	16	32266492	32266492	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	53	0	ENST00000380148.2:c.*701C>T			ENST00000380148				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58456.1	.	MUTECT|MUSE	.	CCATTCTTACA	NONE	.	.	.	.	.	ENSP00000455596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398664	Transcript	.	.	ENSG00000205456	44657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T53G3_HUMAN	TP53TG3D	HGNC	.	.	UPI000006D8DD	SNV	TP53TG3D,3_prime_UTR_variant,,ENST00000398664,;TP53TG3D,3_prime_UTR_variant,,ENST00000569631,;TP53TG3D,downstream_gene_variant,,ENST00000354614,;RP11-56L13.7,upstream_gene_variant,,ENST00000562604,;TP53TG3D,non_coding_transcript_exon_variant,,ENST00000564810,;TP53TG3D,3_prime_UTR_variant,,ENST00000380148,;TP53TG3D,3_prime_UTR_variant,,ENST00000568044,;TP53TG3D,downstream_gene_variant,,ENST00000567978,;TP53TG3D,downstream_gene_variant,,ENST00000563025,;	1278	53	50	SUCCESS
MEAF6	64769	.	GRCh37	1	37959674	37959674	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs376707573	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	45	292	0	ENST00000296214.5:c.*26A>T			ENST00000296214	NM_001270875.1			0	C:0	.	.	.	.	A	.	protein_coding	YES	CCDS418.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCTGGAAG	NONE	byCluster	.	.	.	C:0.0001	ENSP00000362166	.	8/8	.	.	.	.	.	.	.	.	rs376707573	8/8	PASS	ENST00000373075	Transcript	.	.	ENSG00000163875	25674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EAF6_HUMAN	MEAF6	HGNC	.	.	UPI00001A9DD9	SNV	MEAF6,3_prime_UTR_variant,,ENST00000373074,;MEAF6,3_prime_UTR_variant,,ENST00000373075,;MEAF6,3_prime_UTR_variant,,ENST00000296214,;MEAF6,intron_variant,,ENST00000373073,;MEAF6,downstream_gene_variant,,ENST00000448519,;MEAF6,non_coding_transcript_exon_variant,,ENST00000475828,;MEAF6,non_coding_transcript_exon_variant,,ENST00000487792,;MEAF6,non_coding_transcript_exon_variant,,ENST00000487788,;	649	292	164	SUCCESS
POTEH	23784	.	GRCh37	22	16256584	16256584	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	523	38	712	0	ENST00000343518.6:c.*95A>C			ENST00000343518	NM_001136213.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46658.1	.	MUTECT|MUSE	.	TTTCATTATGT	NONE	.	.	.	.	.	ENSP00000340610	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,3_prime_UTR_variant,,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;LA16c-3G11.7,upstream_gene_variant,,ENST00000339523,;	1785	713	562	SUCCESS
DOCK10	55619	.	GRCh37	2	225630405	225630405	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	77	0	ENST00000258390.7:c.*33A>G			ENST00000258390	NM_014689.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46528.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTTCTCTT	NONE	.	.	.	.	.	ENSP00000258390	.	56/56	.	.	.	.	.	.	.	.	.	56/56	PASS	ENST00000258390	Transcript	.	.	ENSG00000135905	23479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOC10_HUMAN	DOCK10	HGNC	Q4ZG60_HUMAN,Q3LIC8_HUMAN	.	UPI000021D2A7	SNV	DOCK10,3_prime_UTR_variant,,ENST00000258390,;DOCK10,3_prime_UTR_variant,,ENST00000409592,;	6662	77	65	SUCCESS
C3orf58	0	.	GRCh37	3	143708710	143708710	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1216241755	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	91	0	ENST00000315691.3:c.*27C>T			ENST00000315691	NM_173552.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3130.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCCATTT	NONE	.	.	.	.	.	ENSP00000320081	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000315691	Transcript	.	.	ENSG00000181744	28490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIA1_HUMAN	C3orf58	HGNC	E7ET39_HUMAN,B3KT85_HUMAN	.	UPI000006EE5C	SNV	C3orf58,3_prime_UTR_variant,,ENST00000315691,;C3orf58,3_prime_UTR_variant,,ENST00000495414,;C3orf58,3_prime_UTR_variant,,ENST00000441925,;C3orf58,downstream_gene_variant,,ENST00000492452,;C3orf58,intron_variant,,ENST00000493396,;C3orf58,downstream_gene_variant,,ENST00000491798,;C3orf58,downstream_gene_variant,,ENST00000483808,;	1855	91	69	SUCCESS
LRAT	9227	.	GRCh37	4	155670346	155670346	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	65	0	ENST00000336356.3:c.*58A>C			ENST00000336356	NM_004744.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3789.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGAGCATC	NONE	.	.	.	.	.	ENSP00000337224	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000336356	Transcript	1	.	ENSG00000121207	6685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRAT_HUMAN	LRAT	HGNC	D6RC94_HUMAN	.	UPI0000072711	SNV	LRAT,3_prime_UTR_variant,,ENST00000507827,;LRAT,3_prime_UTR_variant,,ENST00000336356,;LRAT,downstream_gene_variant,,ENST00000502525,;LRAT,non_coding_transcript_exon_variant,,ENST00000502474,;LRAT,downstream_gene_variant,,ENST00000510919,;LRAT,downstream_gene_variant,,ENST00000499392,;LRAT,non_coding_transcript_exon_variant,,ENST00000510733,;	1004	65	66	SUCCESS
MSX2	4488	.	GRCh37	5	174156604	174156604	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	702	226	1381	2	ENST00000239243.6:c.*18G>T			ENST00000239243	NM_002449.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4392.1	.	RADIA|VARSCANS	.	CAATAGACTCC	NONE	.	.	.	.	.	ENSP00000239243	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239243	Transcript	1	.	ENSG00000120149	7392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSX2_HUMAN	MSX2	HGNC	.	.	UPI000013CA79	SNV	MSX2,3_prime_UTR_variant,,ENST00000239243,;MSX2,downstream_gene_variant,,ENST00000507785,;	949	1383	928	SUCCESS
BTN3A2	11118	.	GRCh37	6	26377013	26377013	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	75	0	ENST00000356386.2:c.*291G>C			ENST00000356386	NM_007047.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4605.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGTATGT	NONE	.	.	.	.	.	ENSP00000348751	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000356386	Transcript	.	.	ENSG00000186470	1139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A2_HUMAN	BTN3A2	HGNC	E9PRX1_HUMAN,E9PRR1_HUMAN	.	UPI000006E484	SNV	BTN3A2,3_prime_UTR_variant,,ENST00000356386,;BTN3A2,downstream_gene_variant,,ENST00000396934,;BTN3A2,downstream_gene_variant,,ENST00000508906,;BTN3A2,downstream_gene_variant,,ENST00000527639,;BTN3A2,downstream_gene_variant,,ENST00000527417,;BTN3A2,downstream_gene_variant,,ENST00000377708,;BTN3A2,downstream_gene_variant,,ENST00000527422,;BTN3A2,downstream_gene_variant,,ENST00000396948,;BTN3A2,downstream_gene_variant,,ENST00000524682,;BTN3A2,downstream_gene_variant,,ENST00000532627,;BTN3A2,downstream_gene_variant,,ENST00000532994,;BTN3A2,downstream_gene_variant,,ENST00000604202,;BTN3A2,downstream_gene_variant,,ENST00000532294,;BTN3A2,downstream_gene_variant,,ENST00000531055,;	1484	75	65	SUCCESS
FUT9	10690	.	GRCh37	6	96657707	96657707	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs939491658	.	TCGA-2Y-A9GT-01	TCGA-2Y-A9GT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	19	61	0	ENST00000302103.5:c.*5596C>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACCGATTT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	7002	61	87	SUCCESS
PKD2L1	9033	.	GRCh37	10	102048125	102048125	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs566612935	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	5	71	0	ENST00000318222.3:c.*28A>G			ENST00000318222	NM_016112.2			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS7492.1	.	MUTECT|MUSE	.	CTTCATAGACT	NONE	by1000G	.	.	C:0	.	ENSP00000325296	C:0	16/16	.	.	.	.	.	.	.	.	rs566612935	16/16	PASS	ENST00000318222	Transcript	.	C:0.0002	ENSG00000107593	9011	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.001	.	.	PK2L1_HUMAN	PKD2L1	HGNC	.	.	UPI0000130FED	SNV	PKD2L1,3_prime_UTR_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000353274,;PKD2L1,3_prime_UTR_variant,,ENST00000338519,;PKD2L1,3_prime_UTR_variant,,ENST00000318222,;BLOC1S2,upstream_gene_variant,,ENST00000370372,;BLOC1S2,upstream_gene_variant,,ENST00000579542,;BLOC1S2,upstream_gene_variant,,ENST00000441611,;BLOC1S2,upstream_gene_variant,,ENST00000361832,;PKD2L1,downstream_gene_variant,,ENST00000528248,;	2829	71	78	SUCCESS
SLC41A2	84102	.	GRCh37	12	105198895	105198895	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	49	0	ENST00000258538.3:c.*35A>T			ENST00000258538	NM_032148.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9100.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCTTCCTT	NONE	.	.	.	.	.	ENSP00000258538	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000258538	Transcript	.	.	ENSG00000136052	31045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S41A2_HUMAN	SLC41A2	HGNC	C9JYJ7_HUMAN,C9JKF2_HUMAN,C9JIL4_HUMAN,C9JDQ2_HUMAN,C9JCR2_HUMAN,C9JA64_HUMAN	.	UPI00001FB431	SNV	SLC41A2,3_prime_UTR_variant,,ENST00000258538,;SLC41A2,non_coding_transcript_exon_variant,,ENST00000549713,;	1885	49	58	SUCCESS
GRIP1	23426	.	GRCh37	12	66742634	66742634	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	8	0	ENST00000359742.4:c.*165C>G			ENST00000359742				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41807.1	.	MUTECT|MUSE	.	AACTTGAAAAG	NONE	.	.	.	.	.	ENSP00000381098	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000398016	Transcript	.	.	ENSG00000155974	18708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIP1_HUMAN	GRIP1	HGNC	F5H5I0_HUMAN,F5H4P8_HUMAN,F5H424_HUMAN	.	UPI0000DD8148	SNV	GRIP1,3_prime_UTR_variant,,ENST00000538164,;GRIP1,3_prime_UTR_variant,,ENST00000286445,;GRIP1,3_prime_UTR_variant,,ENST00000540854,;GRIP1,3_prime_UTR_variant,,ENST00000398016,;GRIP1,3_prime_UTR_variant,,ENST00000359742,;GRIP1,downstream_gene_variant,,ENST00000538211,;snoU13,downstream_gene_variant,,ENST00000458887,;GRIP1,downstream_gene_variant,,ENST00000535323,;	3465	8	20	SUCCESS
DIO3	1735	.	GRCh37	14	102029705	102029705	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	16	106	0	ENST00000510508.4:c.*957C>T			ENST00000510508				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41992.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCCATTTG	NONE	.	.	.	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,3_prime_UTR_variant,,ENST00000510508,;DIO3,3_prime_UTR_variant,,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	2018	106	55	SUCCESS
C14orf119	55017	.	GRCh37	14	23567885	23567885	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	69	0	ENST00000319074.4:c.*595A>G			ENST00000319074	NM_017924.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9588.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAAAACAT	NONE	.	.	.	.	.	ENSP00000322238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319074	Transcript	.	.	ENSG00000179933	20270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN119_HUMAN	C14orf119	HGNC	.	.	UPI000006E710	SNV	C14orf119,3_prime_UTR_variant,,ENST00000319074,;C14orf119,downstream_gene_variant,,ENST00000554203,;ACIN1,upstream_gene_variant,,ENST00000605057,;ACIN1,upstream_gene_variant,,ENST00000262710,;ACIN1,upstream_gene_variant,,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000457657,;	1874	69	56	SUCCESS
MKRN3	7681	.	GRCh37	15	23812771	23812771	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	6	204	0	ENST00000314520.3:c.*318A>G			ENST00000314520	NM_005664.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10013.1	.	MUTECT|MUSE	.	CCTCAAGAGTA	NONE	.	.	.	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,3_prime_UTR_variant,,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;RP11-73C9.1,intron_variant,,ENST00000563044,;MKRN3,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	2318	204	128	SUCCESS
HSF5	124535	.	GRCh37	17	56499622	56499622	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	35	0	ENST00000323777.3:c.*99G>C			ENST00000323777	NM_001080439.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32690.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTCCTTAA	NONE	.	.	.	.	.	ENSP00000313243	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000323777	Transcript	.	.	ENSG00000176160	26862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HSF5_HUMAN	HSF5	HGNC	.	.	UPI0000161929	SNV	HSF5,3_prime_UTR_variant,,ENST00000323777,;RNF43,upstream_gene_variant,,ENST00000584437,;RNF43,upstream_gene_variant,,ENST00000577716,;RNF43,upstream_gene_variant,,ENST00000407977,;RNF43,upstream_gene_variant,,ENST00000580014,;	2000	35	44	SUCCESS
KCNJ16	3773	.	GRCh37	17	68130192	68130192	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	27	83	0	ENST00000283936.1:c.*707C>T			ENST00000283936	NM_018658.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11687.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCCTGGGA	NONE	.	.	.	.	.	ENSP00000376438	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392670	Transcript	.	.	ENSG00000153822	6262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK16_HUMAN	KCNJ16	HGNC	K7ELL5_HUMAN,K7EKJ4_HUMAN	.	UPI000012D8B3	SNV	KCNJ16,3_prime_UTR_variant,,ENST00000283936,;KCNJ16,3_prime_UTR_variant,,ENST00000589377,;KCNJ16,3_prime_UTR_variant,,ENST00000392671,;KCNJ16,3_prime_UTR_variant,,ENST00000585558,;KCNJ16,3_prime_UTR_variant,,ENST00000392670,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000586462,;KCNJ16,downstream_gene_variant,,ENST00000591891,;KCNJ16,downstream_gene_variant,,ENST00000587892,;	2457	83	76	SUCCESS
CTTNBP2NL	55917	.	GRCh37	1	113000078	113000078	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs200227935	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	31	79	0	ENST00000271277.6:c.*44G>A			ENST00000271277	NM_018704.2			0	T:0.0005	.	.	.	.	A	.	protein_coding	YES	CCDS845.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCGTCCAA	NONE	byFrequency|byCluster|by1000G	.	.	.	T:0	ENSP00000271277	.	6/6	.	.	.	.	.	.	.	.	rs200227935	6/6	PASS	ENST00000271277	Transcript	.	T:0.0004	ENSG00000143079	25330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CT2NL_HUMAN	CTTNBP2NL	HGNC	B1AMN7_HUMAN	.	UPI000006ED23	SNV	CTTNBP2NL,3_prime_UTR_variant,,ENST00000271277,;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,;CTTNBP2NL,intron_variant,,ENST00000607039,;	2189	79	49	SUCCESS
CD96	10225	.	GRCh37	3	111368716	111368716	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	23	0	ENST00000283285.5:c.*63T>C			ENST00000283285	NM_198196.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2959.1	.	MUTECT|MUSE	.	CATTGTGCTTT	NONE	.	.	.	.	.	ENSP00000283285	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000283285	Transcript	.	.	ENSG00000153283	16892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TACT_HUMAN	CD96	HGNC	U3KPT0_HUMAN	.	UPI000013DD36	SNV	CD96,3_prime_UTR_variant,,ENST00000283285,;CD96,3_prime_UTR_variant,,ENST00000352690,;CD96,intron_variant,,ENST00000494798,;	1952	23	31	SUCCESS
TMPPE	643853	.	GRCh37	3	33134222	33134222	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	25	0	ENST00000342462.4:c.*104C>G			ENST00000342462	NM_001039770.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33732.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGGATGA	NONE	.	.	.	.	.	ENSP00000343398	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342462	Transcript	.	.	ENSG00000188167	33865	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPPE_HUMAN	TMPPE	HGNC	.	.	UPI000022BF97	SNV	TMPPE,3_prime_UTR_variant,,ENST00000342462,;TMPPE,3_prime_UTR_variant,,ENST00000416695,;GLB1,intron_variant,,ENST00000399402,;GLB1,intron_variant,,ENST00000440656,;GLB1,intron_variant,,ENST00000450835,;GLB1,intron_variant,,ENST00000307363,;GLB1,intron_variant,,ENST00000307377,;GLB1,intron_variant,,ENST00000436768,;GLB1,intron_variant,,ENST00000445488,;GLB1,intron_variant,,ENST00000415454,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000498537,;GLB1,intron_variant,,ENST00000438227,;	1657	25	26	SUCCESS
BEND4	389206	.	GRCh37	4	42119373	42119373	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	19	28	0	ENST00000502486.1:c.*162G>A			ENST00000502486	NM_207406.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47048.1	.	MUTECT|MUSE	.	ACTTCCCAAAC	NONE	.	.	.	.	.	ENSP00000421169	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000502486	Transcript	.	.	ENSG00000188848	23815	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BEND4_HUMAN	BEND4	HGNC	.	.	UPI00015386AF	SNV	BEND4,3_prime_UTR_variant,,ENST00000504360,;BEND4,3_prime_UTR_variant,,ENST00000502486,;	2347	28	28	SUCCESS
SGK1	6446	.	GRCh37	6	134498800	134498800	+	upstream_gene_variant	5'Flank	SNP	C	C	G	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	116	0				ENST00000237305	NM_005627.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47476.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGAACCTTTC	NONE	.	.	.	.	.	ENSP00000356832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367858	Transcript	.	.	ENSG00000118515	10810	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGK1_HUMAN	SGK1	HGNC	E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN	.	UPI000013CA0E	SNV	SGK1,splice_donor_variant,,ENST00000528577,;SGK1,intron_variant,,ENST00000367858,;SGK1,intron_variant,,ENST00000461976,;SGK1,upstream_gene_variant,,ENST00000237305,;SGK1,upstream_gene_variant,,ENST00000413996,;SGK1,upstream_gene_variant,,ENST00000367857,;SGK1,upstream_gene_variant,,ENST00000475719,;SGK1,intron_variant,,ENST00000524387,;SGK1,intron_variant,,ENST00000531575,;SGK1,downstream_gene_variant,,ENST00000484353,;SGK1,upstream_gene_variant,,ENST00000489458,;SGK1,splice_donor_variant,,ENST00000532021,;SGK1,splice_donor_variant,,ENST00000525700,;SGK1,upstream_gene_variant,,ENST00000534658,;SGK1,upstream_gene_variant,,ENST00000524764,;SGK1,upstream_gene_variant,,ENST00000530421,;SGK1,upstream_gene_variant,,ENST00000474427,;SGK1,upstream_gene_variant,,ENST00000477460,;SGK1,upstream_gene_variant,,ENST00000472859,;SGK1,upstream_gene_variant,,ENST00000532856,;SGK1,upstream_gene_variant,,ENST00000525877,;SGK1,upstream_gene_variant,,ENST00000475882,;SGK1,upstream_gene_variant,,ENST00000490149,;SGK1,upstream_gene_variant,,ENST00000367855,;	.	116	70	SUCCESS
B3GAT2	135152	.	GRCh37	6	71570150	71570150	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1379149665	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	24	0	ENST00000230053.6:c.*1216T>C			ENST00000230053	NM_080742.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43478.1	.	MUTECT|MUSE|VARSCANS	.	TGTTCATATTA	NONE	.	.	.	.	.	ENSP00000359484	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000370455	Transcript	.	.	ENSG00000112305	19651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMAP1_HUMAN	SMAP1	HGNC	.	.	UPI00000727D6	SNV	SMAP1,3_prime_UTR_variant,,ENST00000370455,;SMAP1,3_prime_UTR_variant,,ENST00000316999,;B3GAT2,3_prime_UTR_variant,,ENST00000230053,;SMAP1,3_prime_UTR_variant,,ENST00000370452,;	1765	24	36	SUCCESS
SLC26A4	5172	.	GRCh37	7	107355965	107355965	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	47	90	0	ENST00000265715.3:c.*74G>T			ENST00000265715	NM_000441.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5746.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAGACTCA	NONE	.	.	.	.	.	ENSP00000265715	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,3_prime_UTR_variant,,ENST00000544569,;SLC26A4,3_prime_UTR_variant,,ENST00000265715,;SLC26A4,3_prime_UTR_variant,,ENST00000543100,;SLC26A4,3_prime_UTR_variant,,ENST00000541474,;SLC26A4,downstream_gene_variant,,ENST00000492030,;	2641	90	88	SUCCESS
TMUB1	83590	.	GRCh37	7	150778559	150778559	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	12	82	0	ENST00000297533.4:c.*77G>A			ENST00000297533	NM_001136044.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5920.1	.	MUTECT|MUSE|VARSCANS	.	CTGGGCAGGCA	NONE	.	.	.	.	.	ENSP00000376565	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000392818	Transcript	.	.	ENSG00000164897	21709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMUB1_HUMAN	TMUB1	HGNC	C9JE12_HUMAN,C9JCW7_HUMAN	.	UPI0000071C66	SNV	TMUB1,3_prime_UTR_variant,,ENST00000297533,;TMUB1,3_prime_UTR_variant,,ENST00000392818,;TMUB1,3_prime_UTR_variant,,ENST00000462940,;TMUB1,downstream_gene_variant,,ENST00000488752,;FASTK,upstream_gene_variant,,ENST00000297532,;SLC4A2,downstream_gene_variant,,ENST00000310317,;TMUB1,downstream_gene_variant,,ENST00000482202,;SLC4A2,downstream_gene_variant,,ENST00000413384,;SLC4A2,downstream_gene_variant,,ENST00000461735,;FASTK,upstream_gene_variant,,ENST00000353841,;AGAP3,upstream_gene_variant,,ENST00000463381,;SLC4A2,downstream_gene_variant,,ENST00000485713,;FASTK,upstream_gene_variant,,ENST00000540185,;SLC4A2,downstream_gene_variant,,ENST00000392826,;FASTK,upstream_gene_variant,,ENST00000482571,;TMUB1,downstream_gene_variant,,ENST00000476627,;TMUB1,downstream_gene_variant,,ENST00000492838,;RP11-148K1.12,upstream_gene_variant,,ENST00000485974,;AGAP3,upstream_gene_variant,,ENST00000490097,;FASTK,upstream_gene_variant,,ENST00000478477,;FASTK,upstream_gene_variant,,ENST00000489884,;FASTK,upstream_gene_variant,,ENST00000496663,;FASTK,upstream_gene_variant,,ENST00000461979,;FASTK,upstream_gene_variant,,ENST00000460980,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000482806,;FASTK,upstream_gene_variant,,ENST00000459800,;FASTK,upstream_gene_variant,,ENST00000469237,;SLC4A2,downstream_gene_variant,,ENST00000469467,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000465272,;FASTK,upstream_gene_variant,,ENST00000467237,;	1176	82	79	SUCCESS
LRRC6	0	.	GRCh37	8	133584450	133584450	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	13	39	0	ENST00000250173.1:c.*104T>G			ENST00000250173				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6365.1	.	MUTECT|MUSE	.	TATTGACAAAT	NONE	.	.	.	.	.	ENSP00000250173	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000250173	Transcript	1	.	ENSG00000129295	16725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TILB_HUMAN	LRRC6	HGNC	.	.	UPI000000DBC5	SNV	LRRC6,3_prime_UTR_variant,,ENST00000519595,;LRRC6,3_prime_UTR_variant,,ENST00000518642,;LRRC6,3_prime_UTR_variant,,ENST00000250173,;LRRC6,3_prime_UTR_variant,,ENST00000522789,;LRRC6,downstream_gene_variant,,ENST00000522597,;	1579	39	60	SUCCESS
TMEM55A	0	.	GRCh37	8	92007853	92007853	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	42	0	ENST00000285419.3:c.*52A>T			ENST00000285419	NM_018710.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6252.1	.	MUTECT|MUSE	.	GTAGCTTACCA	NONE	.	.	.	.	.	ENSP00000285419	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000285419	Transcript	.	.	ENSG00000155099	25452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM55A_HUMAN	TMEM55A	HGNC	.	.	UPI0000071563	SNV	TMEM55A,3_prime_UTR_variant,,ENST00000285419,;TMEM55A,downstream_gene_variant,,ENST00000520014,;TMEM55A,3_prime_UTR_variant,,ENST00000520709,;TMEM55A,3_prime_UTR_variant,,ENST00000518359,;TMEM55A,downstream_gene_variant,,ENST00000518869,;	1141	42	49	SUCCESS
SPRY3	10251	.	GRCh37	X	155009368	155009368	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GU-01	TCGA-2Y-A9GU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	106	277	0	ENST00000302805.2:c.*4968C>T			ENST00000302805	NM_005840.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14769.4	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATTCTGTAA	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	6266	277	200	SUCCESS
ABHD13	84945	.	GRCh37	13	108886380	108886380	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	391	144	578	0	ENST00000375898.3:c.*3800C>A			ENST00000375898	NM_032859.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCCATTTC	NONE	.	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	5115	578	536	SUCCESS
ASF1B	55723	.	GRCh37	19	14231253	14231253	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs746157443	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	13	62	0	ENST00000263382.3:c.*18G>A			ENST00000263382	NM_018154.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12306.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGACACTCT	NONE	.	.	.	.	.	ENSP00000263382	.	4/4	.	.	.	.	.	.	.	.	rs746157443	4/4	PASS	ENST00000263382	Transcript	.	.	ENSG00000105011	20996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASF1B_HUMAN	ASF1B	HGNC	B4DXU6_HUMAN	.	UPI00000437D4	SNV	ASF1B,3_prime_UTR_variant,,ENST00000592798,;ASF1B,3_prime_UTR_variant,,ENST00000263382,;PRKACA,upstream_gene_variant,,ENST00000589284,;PRKACA,upstream_gene_variant,,ENST00000590853,;ASF1B,downstream_gene_variant,,ENST00000474890,;PRKACA,upstream_gene_variant,,ENST00000308677,;CTB-55O6.10,downstream_gene_variant,,ENST00000590715,;ASF1B,downstream_gene_variant,,ENST00000589468,;ASF1B,downstream_gene_variant,,ENST00000590835,;	1127	62	57	SUCCESS
KIR2DL3	3804	.	GRCh37	19	55264025	55264060	+	3_prime_UTR_variant	3'UTR	DEL	CTAGGGAGACAACAGCCCTGTCTCAAAACTGGGTTG	CTAGGGAGACAACAGCCCTGTCTCAAAACTGGGTTG	-	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	CTAGGGAGACAACAGCCCTGTCTCAAAACTGGGTTG	CTAGGGAGACAACAGCCCTGTCTCAAAACTGGGTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	67	20	69	0	ENST00000342376.3:c.*55_*90del			ENST00000342376	NM_015868.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33107.1	.	VARSCANI*|PINDEL	.	GATCTTCTAGGGAGACAACAGCCCTGTCTCAAAACTGGGTTGCCAGC	NONE	.	.	.	.	.	ENSP00000342215	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000342376	Transcript	.	.	ENSG00000243772	6331	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI2L3_HUMAN	KIR2DL3	HGNC	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN	.	UPI000012DB1C	deletion	KIR2DL3,3_prime_UTR_variant,,ENST00000342376,;KIR2DL4,intron_variant,,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,;	1111-1146	69	87	SUCCESS
EMC1	23065	.	GRCh37	1	19545775	19545775	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	31	75	0	ENST00000477853.1:c.*22A>G			ENST00000477853	NM_001271427.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS190.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCACTTTTAG	NONE	.	.	.	.	.	ENSP00000420608	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000477853	Transcript	.	.	ENSG00000127463	28957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC1_HUMAN	EMC1	HGNC	.	.	UPI0000070A23	SNV	EMC1,3_prime_UTR_variant,,ENST00000375208,;EMC1,3_prime_UTR_variant,,ENST00000375199,;EMC1,3_prime_UTR_variant,,ENST00000477853,;EMC1,downstream_gene_variant,,ENST00000486405,;RP1-43E13.2,intron_variant,,ENST00000437898,;EMC1,non_coding_transcript_exon_variant,,ENST00000461353,;EMC1,non_coding_transcript_exon_variant,,ENST00000480380,;EMC1,downstream_gene_variant,,ENST00000496654,;EMC1,downstream_gene_variant,,ENST00000494770,;EMC1,downstream_gene_variant,,ENST00000462505,;EMC1,downstream_gene_variant,,ENST00000486238,;	3047	75	76	SUCCESS
SDC3	9672	.	GRCh37	1	31346006	31346006	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	79	0	ENST00000339394.6:c.*52C>G			ENST00000339394	NM_014654.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30661.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGGGGACT	NONE	.	.	.	.	.	ENSP00000344468	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000339394	Transcript	.	.	ENSG00000162512	10660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDC3_HUMAN	SDC3	HGNC	.	.	UPI000045619B	SNV	SDC3,3_prime_UTR_variant,,ENST00000336798,;SDC3,3_prime_UTR_variant,,ENST00000339394,;SDC3,downstream_gene_variant,,ENST00000471567,;	1556	79	68	SUCCESS
SNX18	112574	.	GRCh37	5	53816291	53816291	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	70	0	ENST00000326277.3:c.*622G>T			ENST00000326277	NM_052870.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3962.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGGGAGTT	NONE	.	.	.	.	.	ENSP00000317332	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326277	Transcript	.	.	ENSG00000178996	19245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX18_HUMAN	SNX18	HGNC	.	.	UPI00001418B0	SNV	SNX18,3_prime_UTR_variant,,ENST00000326277,;SNX18,intron_variant,,ENST00000343017,;SNX18,intron_variant,,ENST00000381410,;	2699	70	97	SUCCESS
TAS2R1	50834	.	GRCh37	5	9629198	9629198	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GV-01	TCGA-2Y-A9GV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	39	0	ENST00000382492.2:c.*47C>A			ENST00000382492	NM_019599.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3876.1	.	MUTECT|MUSE	.	GCATGGGTAAA	NONE	.	.	.	.	.	ENSP00000371932	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382492	Transcript	.	.	ENSG00000169777	14909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TA2R1_HUMAN	TAS2R1	HGNC	U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN	.	UPI0000038B09	SNV	TAS2R1,3_prime_UTR_variant,,ENST00000382492,;TAS2R1,downstream_gene_variant,,ENST00000514078,;TAS2R1,downstream_gene_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;	1266	39	67	SUCCESS
SOX11	6664	.	GRCh37	2	5835076	5835076	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	35	126	0	ENST00000322002.3:c.*897C>G			ENST00000322002	NM_003108.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTACAAAAG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	2278	126	129	SUCCESS
CCSER1	401145	.	GRCh37	4	92520403	92520403	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	18	0	ENST00000509176.1:c.*195T>G			ENST00000509176	NM_001145065.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47099.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTTAATTG	NONE	.	.	.	.	.	ENSP00000425040	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000509176	Transcript	.	.	ENSG00000184305	29349	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCSE1_HUMAN	CCSER1	HGNC	.	.	UPI00005A6104	SNV	CCSER1,3_prime_UTR_variant,,ENST00000509176,;CCSER1,downstream_gene_variant,,ENST00000333691,;	3186	18	30	SUCCESS
FABP7	2173	.	GRCh37	6	123105025	123105025	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	32	0	ENST00000368444.3:c.*113T>C			ENST00000368444	NM_001446.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5127.1	.	MUTECT|MUSE	.	TGGTGTGGAGG	NONE	.	.	.	.	.	ENSP00000357429	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368444	Transcript	.	.	ENSG00000164434	3562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FABP7_HUMAN	FABP7	HGNC	.	.	UPI000013E3A9	SNV	FABP7,3_prime_UTR_variant,,ENST00000368444,;FABP7,downstream_gene_variant,,ENST00000356535,;	832	32	26	SUCCESS
AKR1D1	6718	.	GRCh37	7	137801540	137801540	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	16	0	ENST00000242375.3:c.*132T>G			ENST00000242375	NM_005989.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5846.1	.	RADIA|MUTECT|MUSE	.	ATGTTTAATGT	NONE	.	.	.	.	.	ENSP00000242375	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000242375	Transcript	.	.	ENSG00000122787	388	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AK1D1_HUMAN	AKR1D1	HGNC	C4PL35_HUMAN	.	UPI0000125764	SNV	AKR1D1,3_prime_UTR_variant,,ENST00000432161,;AKR1D1,3_prime_UTR_variant,,ENST00000411726,;AKR1D1,3_prime_UTR_variant,,ENST00000242375,;snoU13,upstream_gene_variant,,ENST00000458991,;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;	1155	16	18	SUCCESS
YKT6	10652	.	GRCh37	7	44240613	44240613	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs1255437461	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	36	0				ENST00000223369	NM_006555.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5482.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCCCCGTCA	NONE	.	35	.	.	.	ENSP00000223369	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000223369	Transcript	.	.	ENSG00000106636	16959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	YKT6_HUMAN	YKT6	HGNC	A4D2J0_HUMAN	.	UPI000004D0E4	SNV	YKT6,5_prime_UTR_variant,,ENST00000496112,;YKT6,upstream_gene_variant,,ENST00000223369,;YKT6,non_coding_transcript_exon_variant,,ENST00000447123,;GCK,upstream_gene_variant,,ENST00000476008,;	.	36	28	SUCCESS
AGPAT6	0	.	GRCh37	8	41478719	41478719	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs554390560	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	16	0	ENST00000396987.3:c.*199C>T			ENST00000396987	NM_178819.3			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS6117.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAACGGATG	NONE	by1000G	.	.	T:0	.	ENSP00000380184	T:0	13/13	.	.	.	.	.	.	.	.	rs554390560	13/13	PASS	ENST00000396987	Transcript	.	T:0.0002	ENSG00000158669	20880	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	GPAT4_HUMAN	AGPAT6	HGNC	Q8NDD3_HUMAN,Q2TU73_HUMAN,E5RIA1_HUMAN,E5RHA6_HUMAN,E5RGW3_HUMAN	.	UPI0000047FDD	SNV	AGPAT6,3_prime_UTR_variant,,ENST00000396987,;RP11-360L9.8,non_coding_transcript_exon_variant,,ENST00000581909,;AGPAT6,non_coding_transcript_exon_variant,,ENST00000518628,;AGPAT6,non_coding_transcript_exon_variant,,ENST00000521349,;AGPAT6,downstream_gene_variant,,ENST00000523906,;	2497	16	18	SUCCESS
FAM122A	0	.	GRCh37	9	71396923	71396923	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9GW-01	TCGA-2Y-A9GW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	109	0	ENST00000394264.3:c.*979C>G			ENST00000394264	NM_138333.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6623.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAACAGGAG	NONE	.	.	.	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,3_prime_UTR_variant,,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	1960	109	97	SUCCESS
FBXO18	0	.	GRCh37	10	5932246	5932246	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	56	0				ENST00000379999	NM_032807.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7073.1	.	MUTECT|MUSE	.	GCTGGGCTGAG	NONE	.	4103	.	.	.	ENSP00000369335	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379999	Transcript	.	.	ENSG00000134452	13620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX18_HUMAN	FBXO18	HGNC	Q66K33_HUMAN,Q2TAK1_HUMAN	.	UPI000019AB6F	SNV	FBXO18,5_prime_UTR_variant,,ENST00000362091,;FBXO18,intron_variant,,ENST00000397269,;FBXO18,upstream_gene_variant,,ENST00000379999,;ANKRD16,upstream_gene_variant,,ENST00000380092,;ANKRD16,upstream_gene_variant,,ENST00000380094,;ANKRD16,upstream_gene_variant,,ENST00000191063,;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,non_coding_transcript_exon_variant,,ENST00000470089,;ANKRD16,upstream_gene_variant,,ENST00000492368,;	.	56	66	SUCCESS
OOSP2	219990	.	GRCh37	11	59814548	59814548	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	10	71	0	ENST00000278855.2:c.*2C>T			ENST00000278855	NM_173801.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7979.1	.	MUTECT|MUSE|VARSCANS	.	CTGAGCTAAAG	NONE	.	.	.	.	.	ENSP00000278855	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000278855	Transcript	.	.	ENSG00000149507	26699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OOSP2_HUMAN	OOSP2	HGNC	.	.	UPI000000DC90	SNV	OOSP2,3_prime_UTR_variant,,ENST00000278855,;OOSP2,downstream_gene_variant,,ENST00000532905,;OOSP2,downstream_gene_variant,,ENST00000527395,;	664	71	98	SUCCESS
FOLR1	2348	.	GRCh37	11	71907268	71907268	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1407233145	.	TCGA-2Y-A9GX-01	TCGA-2Y-A9GX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	4	66	0	ENST00000312293.4:c.*47C>T			ENST00000312293	NM_016725.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8211.1	.	MUTECT|MUSE	.	CAGCCCCACAG	NONE	.	.	.	.	.	ENSP00000377284	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000393679	Transcript	.	.	ENSG00000110195	3791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOLR1_HUMAN	FOLR1	HGNC	Q9NP04_HUMAN,Q96QD1_HUMAN,Q6LDL1_HUMAN	.	UPI0000000C4C	SNV	FOLR1,3_prime_UTR_variant,,ENST00000393679,;FOLR1,3_prime_UTR_variant,,ENST00000393676,;FOLR1,3_prime_UTR_variant,,ENST00000312293,;FOLR1,3_prime_UTR_variant,,ENST00000393681,;RP11-807H22.7,intron_variant,,ENST00000378140,;	1257	66	55	SUCCESS
PACS1	55690	.	GRCh37	11	66010818	66010818	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	13	0	ENST00000320580.4:c.*67A>G			ENST00000320580	NM_018026.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8129.1	.	MUTECT|MUSE	.	GGGGGAGGCCA	NONE	.	.	.	.	.	ENSP00000316454	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000320580	Transcript	.	.	ENSG00000175115	30032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PACS1_HUMAN	PACS1	HGNC	Q9NTH2_HUMAN,E9PSG7_HUMAN,E9PSE1_HUMAN,E9PNZ9_HUMAN,B4DF77_HUMAN	.	UPI0000190973	SNV	PACS1,3_prime_UTR_variant,,ENST00000529677,;PACS1,3_prime_UTR_variant,,ENST00000320580,;PACS1,downstream_gene_variant,,ENST00000529757,;PACS1,downstream_gene_variant,,ENST00000531597,;PACS1,downstream_gene_variant,,ENST00000524815,;RP11-755F10.1,downstream_gene_variant,,ENST00000531086,;PACS1,downstream_gene_variant,,ENST00000525798,;	2992	13	17	SUCCESS
UCP2	7351	.	GRCh37	11	73686047	73686047	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	36	135	0	ENST00000310473.3:c.*5C>T			ENST00000310473	NM_003355.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8228.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGAGGCT	NONE	.	.	.	.	.	ENSP00000312029	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000310473	Transcript	.	.	ENSG00000175567	12518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCP2_HUMAN	UCP2	HGNC	F5H312_HUMAN	.	UPI000003627C	SNV	UCP2,3_prime_UTR_variant,,ENST00000536983,;UCP2,3_prime_UTR_variant,,ENST00000544615,;UCP2,3_prime_UTR_variant,,ENST00000310473,;UCP2,downstream_gene_variant,,ENST00000539764,;DNAJB13,downstream_gene_variant,,ENST00000537753,;UCP2,downstream_gene_variant,,ENST00000545212,;DNAJB13,downstream_gene_variant,,ENST00000543947,;DNAJB13,downstream_gene_variant,,ENST00000542350,;DNAJB13,downstream_gene_variant,,ENST00000339764,;RP11-167N4.2,upstream_gene_variant,,ENST00000537019,;UCP2,downstream_gene_variant,,ENST00000542615,;UCP2,downstream_gene_variant,,ENST00000541027,;UCP2,downstream_gene_variant,,ENST00000545562,;UCP2,downstream_gene_variant,,ENST00000543714,;	1778	135	136	SUCCESS
GLIPR1L2	144321	.	GRCh37	12	75784696	75784696	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	47	0				ENST00000550916	NM_001270396.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58258.1	.	RADIA|MUSE|VARSCANS	.	CTCCTCTCCCC	NONE	.	154	.	.	.	ENSP00000448248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000550916	Transcript	.	.	ENSG00000180481	28592	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRPL2_HUMAN	GLIPR1L2	HGNC	.	.	UPI00001408B2	SNV	CAPS2,5_prime_UTR_variant,,ENST00000442339,;GLIPR1L2,upstream_gene_variant,,ENST00000441218,;GLIPR1L2,upstream_gene_variant,,ENST00000550916,;CAPS2,upstream_gene_variant,,ENST00000552497,;GLIPR1L2,upstream_gene_variant,,ENST00000378689,;CAPS2,upstream_gene_variant,,ENST00000436898,;GLIPR1L2,upstream_gene_variant,,ENST00000435775,;GLIPR1L2,upstream_gene_variant,,ENST00000547164,;GLIPR1L2,upstream_gene_variant,,ENST00000378692,;GLIPR1L2,upstream_gene_variant,,ENST00000320460,;CAPS2,upstream_gene_variant,,ENST00000551829,;CAPS2,non_coding_transcript_exon_variant,,ENST00000547320,;CAPS2,upstream_gene_variant,,ENST00000548035,;CAPS2,upstream_gene_variant,,ENST00000548958,;CAPS2,upstream_gene_variant,,ENST00000486196,;CAPS2,5_prime_UTR_variant,,ENST00000336815,;CAPS2,5_prime_UTR_variant,,ENST00000328705,;	.	47	56	SUCCESS
NEIL1	79661	.	GRCh37	15	75647505	75647505	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	30	0	ENST00000355059.4:c.*130C>T			ENST00000355059	NM_024608.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10278.1	.	MUTECT|MUSE	.	ACTCTCATGGT	NONE	.	.	.	.	.	ENSP00000457352	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000564784	Transcript	.	.	ENSG00000140398	18448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEIL1_HUMAN	NEIL1	HGNC	H3BU98_HUMAN,H3BTX5_HUMAN,H3BT94_HUMAN,H3BST2_HUMAN,H3BRZ2_HUMAN,H3BQU8_HUMAN,H3BQE8_HUMAN,H3BN83_HUMAN	.	UPI000013D787	SNV	NEIL1,3_prime_UTR_variant,,ENST00000564784,;NEIL1,3_prime_UTR_variant,,ENST00000355059,;NEIL1,3_prime_UTR_variant,,ENST00000569035,;NEIL1,downstream_gene_variant,,ENST00000567657,;NEIL1,downstream_gene_variant,,ENST00000567005,;MAN2C1,downstream_gene_variant,,ENST00000565683,;NEIL1,downstream_gene_variant,,ENST00000565051,;MAN2C1,downstream_gene_variant,,ENST00000563622,;MAN2C1,downstream_gene_variant,,ENST00000267978,;MAN2C1,downstream_gene_variant,,ENST00000569482,;MIR631,upstream_gene_variant,,ENST00000384904,;RP11-817O13.6,downstream_gene_variant,,ENST00000563660,;NEIL1,downstream_gene_variant,,ENST00000567959,;NEIL1,non_coding_transcript_exon_variant,,ENST00000569758,;NEIL1,non_coding_transcript_exon_variant,,ENST00000561643,;NEIL1,non_coding_transcript_exon_variant,,ENST00000565121,;NEIL1,non_coding_transcript_exon_variant,,ENST00000567393,;MAN2C1,downstream_gene_variant,,ENST00000563794,;MAN2C1,downstream_gene_variant,,ENST00000566099,;MAN2C1,downstream_gene_variant,,ENST00000561693,;MAN2C1,downstream_gene_variant,,ENST00000566569,;MAN2C1,downstream_gene_variant,,ENST00000567360,;MAN2C1,downstream_gene_variant,,ENST00000563441,;MAN2C1,downstream_gene_variant,,ENST00000562067,;MAN2C1,downstream_gene_variant,,ENST00000566013,;NEIL1,downstream_gene_variant,,ENST00000568519,;MAN2C1,downstream_gene_variant,,ENST00000566634,;MAN2C1,downstream_gene_variant,,ENST00000562461,;NEIL1,downstream_gene_variant,,ENST00000564738,;MAN2C1,downstream_gene_variant,,ENST00000564570,;MAN2C1,downstream_gene_variant,,ENST00000563596,;MAN2C1,downstream_gene_variant,,ENST00000564929,;MAN2C1,downstream_gene_variant,,ENST00000567163,;MAN2C1,downstream_gene_variant,,ENST00000564785,;MAN2C1,downstream_gene_variant,,ENST00000563368,;MAN2C1,downstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000563528,;NEIL1,downstream_gene_variant,,ENST00000567547,;MAN2C1,downstream_gene_variant,,ENST00000569176,;	1932	30	22	SUCCESS
NTAN1	123803	.	GRCh37	16	15131858	15131858	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs749557348	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	49	0	ENST00000287706.3:c.*30C>G			ENST00000287706	NM_001270766.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAGAAGGT	NONE	byFrequency	.	.	.	.	ENSP00000287706	.	10/10	.	.	.	.	.	.	.	.	rs749557348	10/10	PASS	ENST00000287706	Transcript	.	.	ENSG00000157045	29909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTAN1_HUMAN	NTAN1	HGNC	Q658S0_HUMAN,H3BPN7_HUMAN	.	UPI0000071024	SNV	NTAN1,3_prime_UTR_variant,,ENST00000287706,;PDXDC1,intron_variant,,ENST00000535621,;NTAN1,downstream_gene_variant,,ENST00000566419,;PDXDC1,downstream_gene_variant,,ENST00000569715,;PDXDC1,downstream_gene_variant,,ENST00000325823,;NTAN1,downstream_gene_variant,,ENST00000568320,;PDXDC1,downstream_gene_variant,,ENST00000447912,;PDXDC1,downstream_gene_variant,,ENST00000563679,;PDXDC1,downstream_gene_variant,,ENST00000396410,;PDXDC1,downstream_gene_variant,,ENST00000450288,;NTAN1,3_prime_UTR_variant,,ENST00000565187,;NTAN1,non_coding_transcript_exon_variant,,ENST00000566542,;NTAN1,downstream_gene_variant,,ENST00000570292,;NTAN1,downstream_gene_variant,,ENST00000563940,;PDXDC1,downstream_gene_variant,,ENST00000562119,;NTAN1,downstream_gene_variant,,ENST00000568738,;PDXDC1,downstream_gene_variant,,ENST00000570001,;PDXDC1,downstream_gene_variant,,ENST00000565986,;	1056	49	71	SUCCESS
DYM	54808	.	GRCh37	18	46570412	46570412	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	34	77	0	ENST00000269445.6:c.*13C>G			ENST00000269445	NM_017653.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11937.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGAGCAT	NONE	.	.	.	.	.	ENSP00000269445	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000269445	Transcript	.	.	ENSG00000141627	21317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYM_HUMAN	DYM	HGNC	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN	.	UPI00001AE953	SNV	DYM,3_prime_UTR_variant,,ENST00000577734,;DYM,3_prime_UTR_variant,,ENST00000269445,;DYM,3_prime_UTR_variant,,ENST00000442713,;RP11-15F12.1,intron_variant,,ENST00000584252,;	2481	77	97	SUCCESS
SETDB1	9869	.	GRCh37	1	150936915	150936915	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	44	0	ENST00000271640.5:c.*75G>C			ENST00000271640	NM_001145415.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS973.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTGACCCG	NONE	.	734	.	.	.	ENSP00000271688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000271688	Transcript	.	.	ENSG00000143418	14076	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CERS2_HUMAN	CERS2	HGNC	Q5SZE6_HUMAN,Q5SZE3_HUMAN,Q5SZE2_HUMAN,Q5SZE1_HUMAN,H0YKH6_HUMAN	.	UPI0000001237	SNV	CERS2,missense_variant,p.Gln338Glu,ENST00000561294,;SETDB1,3_prime_UTR_variant,,ENST00000271640,;SETDB1,3_prime_UTR_variant,,ENST00000368969,;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000560793,;CERS2,downstream_gene_variant,,ENST00000457392,;CERS2,downstream_gene_variant,,ENST00000368954,;CERS2,downstream_gene_variant,,ENST00000368949,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000271688,;CERS2,downstream_gene_variant,,ENST00000421609,;RP11-316M1.12,upstream_gene_variant,,ENST00000560481,;RP11-316M1.12,upstream_gene_variant,,ENST00000561111,;SETDB1,downstream_gene_variant,,ENST00000459773,;CERS2,downstream_gene_variant,,ENST00000345896,;CERS2,non_coding_transcript_exon_variant,,ENST00000482825,;SETDB1,non_coding_transcript_exon_variant,,ENST00000497314,;SETDB1,downstream_gene_variant,,ENST00000528749,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,downstream_gene_variant,,ENST00000559660,;CERS2,downstream_gene_variant,,ENST00000460664,;	.	44	60	SUCCESS
AMER3	205147	.	GRCh37	2	131524582	131524582	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	45	0				ENST00000321420				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2164.1	.	MUTECT|MUSE	.	TTTGACTCCAC	NONE	.	.	.	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,3_prime_UTR_variant,,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000431758,;	5047	45	50	SUCCESS
FXN	2395	.	GRCh37	9	71687696	71687696	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GY-01	TCGA-2Y-A9GY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	32	0	ENST00000377270.3:c.*18A>G			ENST00000377270	NM_000144.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6626.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAAGGACA	NONE	.	.	.	.	.	ENSP00000366482	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377270	Transcript	.	.	ENSG00000165060	3951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FRDA_HUMAN	FXN	HGNC	C9JAX1_HUMAN	.	UPI0000062306	SNV	FXN,3_prime_UTR_variant,,ENST00000484259,;FXN,3_prime_UTR_variant,,ENST00000377270,;FXN,3_prime_UTR_variant,,ENST00000396366,;FXN,3_prime_UTR_variant,,ENST00000498653,;FXN,intron_variant,,ENST00000396364,;	1175	32	33	SUCCESS
CDC42EP2	10435	.	GRCh37	11	65089267	65089267	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	44	72	0	ENST00000279249.2:c.*265A>G			ENST00000279249	NM_006779.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8099.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATCACAATA	NONE	.	.	.	.	.	ENSP00000442534	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000544348	Transcript	.	.	ENSG00000149798	16263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BORG1_HUMAN	CDC42EP2	HGNC	.	.	UPI000000D7F5	SNV	CDC42EP2,3_prime_UTR_variant,,ENST00000544348,;CDC42EP2,3_prime_UTR_variant,,ENST00000279249,;CDC42EP2,downstream_gene_variant,,ENST00000533419,;	1504	72	82	SUCCESS
PTMS	5763	.	GRCh37	12	6879777	6879777	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1275854267	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	25	0	ENST00000309083.6:c.*169C>T			ENST00000309083	NM_002824.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8560.1	.	MUTECT|MUSE	.	CACTGCGCCCT	NONE	.	.	.	.	.	ENSP00000310088	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000309083	Transcript	.	.	ENSG00000159335	9629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTMS_HUMAN	PTMS	HGNC	.	.	UPI0000161B43	SNV	PTMS,3_prime_UTR_variant,,ENST00000309083,;LAG3,upstream_gene_variant,,ENST00000203629,;PTMS,downstream_gene_variant,,ENST00000389462,;LAG3,upstream_gene_variant,,ENST00000441671,;PTMS,downstream_gene_variant,,ENST00000540874,;MLF2,upstream_gene_variant,,ENST00000539187,;PTMS,non_coding_transcript_exon_variant,,ENST00000538057,;PTMS,non_coding_transcript_exon_variant,,ENST00000540828,;PTMS,non_coding_transcript_exon_variant,,ENST00000540667,;LAG3,upstream_gene_variant,,ENST00000538079,;	807	25	27	SUCCESS
MPV17L	255027	.	GRCh37	16	15501993	15501993	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	30	128	0	ENST00000396385.3:c.*24G>A			ENST00000396385	NM_001128423.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45421.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGACCAC	NONE	.	.	.	.	.	ENSP00000379669	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396385	Transcript	.	.	ENSG00000156968	26827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MP17L_HUMAN	MPV17L	HGNC	.	.	UPI000067CA92	SNV	MPV17L,3_prime_UTR_variant,,ENST00000396385,;MPV17L,3_prime_UTR_variant,,ENST00000287594,;RP11-1021N1.1,intron_variant,,ENST00000568766,;RP11-1021N1.1,intron_variant,,ENST00000567442,;RP11-1021N1.1,intron_variant,,ENST00000568222,;MPV17L,downstream_gene_variant,,ENST00000564148,;	734	128	129	SUCCESS
FAHD1	81889	.	GRCh37	16	1878098	1878098	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs961776914	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	30	0	ENST00000427358.2:c.*193G>A			ENST00000427358	NM_031208.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32367.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAGGGTGA	NONE	.	.	.	.	.	ENSP00000372112	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382666	Transcript	.	.	ENSG00000180185	14169	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAHD1_HUMAN	FAHD1	HGNC	.	.	UPI000051946E	SNV	FAHD1,3_prime_UTR_variant,,ENST00000427358,;FAHD1,intron_variant,,ENST00000382666,;FAHD1,intron_variant,,ENST00000382668,;HAGH,upstream_gene_variant,,ENST00000397356,;HAGH,upstream_gene_variant,,ENST00000397353,;HAGH,upstream_gene_variant,,ENST00000569339,;HAGH,upstream_gene_variant,,ENST00000455446,;HAGH,upstream_gene_variant,,ENST00000566709,;HAGH,upstream_gene_variant,,ENST00000564518,;HAGH,upstream_gene_variant,,ENST00000567190,;HAGH,upstream_gene_variant,,ENST00000569700,;HAGH,upstream_gene_variant,,ENST00000565097,;	.	30	21	SUCCESS
KCNJ12	3768	.	GRCh37	17	21321963	21321963	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	38	78	0				ENST00000331718	NM_001194958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11219.1	.	RADIA|MUTECT|MUSE	.	CGAGGCAGCTC	NONE	.	.	.	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,3_prime_UTR_variant,,ENST00000583088,;KCNJ12,downstream_gene_variant,,ENST00000331718,;	4204	78	119	SUCCESS
CDK5R1	8851	.	GRCh37	17	30816780	30816780	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	24	106	0	ENST00000313401.3:c.*1221del			ENST00000313401	NM_003885.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11273.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATTGATTTTCT	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	deletion	CDK5R1,3_prime_UTR_variant,,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000394649,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,downstream_gene_variant,,ENST00000584792,;MYO1D,downstream_gene_variant,,ENST00000577576,;CDK5R1,downstream_gene_variant,,ENST00000584716,;MYO1D,downstream_gene_variant,,ENST00000577352,;	2831	106	111	SUCCESS
TAF13	6884	.	GRCh37	1	109607054	109607054	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	43	0	ENST00000338366.5:c.*91G>A			ENST00000338366	NM_005645.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30788.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTACATGGC	NONE	.	.	.	.	.	ENSP00000355051	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000338366	Transcript	.	.	ENSG00000197780	11546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAF13_HUMAN	TAF13	HGNC	.	.	UPI000000104E	SNV	TAF13,3_prime_UTR_variant,,ENST00000338366,;TAF13,splice_donor_variant,,ENST00000461096,;	521	43	39	SUCCESS
MTHFR	4524	.	GRCh37	1	11848591	11848591	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1254607249	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	37	0	ENST00000376590.3:c.*2146G>A			ENST00000376590	NM_005957.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS137.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACACCCCCT	NONE	.	.	.	.	.	ENSP00000365777	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376592	Transcript	.	.	ENSG00000177000	7436	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTHR_HUMAN	MTHFR	HGNC	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN	.	UPI0000141098	SNV	MTHFR,3_prime_UTR_variant,,ENST00000376585,;MTHFR,3_prime_UTR_variant,,ENST00000376590,;MTHFR,3_prime_UTR_variant,,ENST00000376583,;MTHFR,3_prime_UTR_variant,,ENST00000376592,;C1orf167,intron_variant,,ENST00000449278,;C1orf167,intron_variant,,ENST00000312793,;C1orf167,intron_variant,,ENST00000433342,;C1orf167,intron_variant,,ENST00000444493,;C1orf167,intron_variant,,ENST00000482358,;C1orf167,downstream_gene_variant,,ENST00000475041,;	4246	37	49	SUCCESS
USH2A	7399	.	GRCh37	1	215798956	215798956	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	40	0	ENST00000307340.3:c.*167T>G			ENST00000307340	NM_206933.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31025.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTAGACCT	NONE	.	.	.	.	.	ENSP00000305941	.	72/72	.	.	.	.	.	.	.	.	.	72/72	PASS	ENST00000307340	Transcript	.	.	ENSG00000042781	12601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	USH2A_HUMAN	USH2A	HGNC	.	.	UPI000034E5B6	SNV	USH2A,3_prime_UTR_variant,,ENST00000366943,;USH2A,3_prime_UTR_variant,,ENST00000307340,;KCTD3,downstream_gene_variant,,ENST00000259154,;SNORD116,downstream_gene_variant,,ENST00000365628,;KCTD3,downstream_gene_variant,,ENST00000495537,;	16163	41	31	SUCCESS
ELAVL4	1996	.	GRCh37	1	50572025	50572025	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	29	52	0				ENST00000371823	NM_021952.3	7		0	.	.	.	.	.	A	R/K	protein_coding	YES	CCDS44139.1	20	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAAGGGAAA	NONE	.	.	hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF243	.	.	ENSP00000349594	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000357083	Transcript	.	.	ENSG00000162374	3315	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.046)	.	tolerated_low_confidence(0.3)	.	ELAV4_HUMAN	ELAVL4	HGNC	B7Z5E0_HUMAN	.	UPI000006F633	SNV	ELAVL4,missense_variant,p.Arg7Lys,ENST00000357083,;ELAVL4,intron_variant,,ENST00000448907,;ELAVL4,intron_variant,,ENST00000371827,;ELAVL4,upstream_gene_variant,,ENST00000371824,;ELAVL4,upstream_gene_variant,,ENST00000371821,;ELAVL4,upstream_gene_variant,,ENST00000371819,;ELAVL4,upstream_gene_variant,,ENST00000371823,;ELAVL4,intron_variant,,ENST00000463650,;ELAVL4,upstream_gene_variant,,ENST00000494555,;	62	52	58	SUCCESS
B3GNT5	84002	.	GRCh37	3	182989099	182989099	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	261	67	247	0	ENST00000326505.3:c.*376A>T			ENST00000326505	NM_032047.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3244.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGAAATGA	NONE	.	.	.	.	.	ENSP00000316173	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326505	Transcript	.	.	ENSG00000176597	15684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GN5_HUMAN	B3GNT5	HGNC	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN	.	UPI000003D75E	SNV	B3GNT5,3_prime_UTR_variant,,ENST00000460419,;B3GNT5,3_prime_UTR_variant,,ENST00000326505,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000481531,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,downstream_gene_variant,,ENST00000465010,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;	2043	247	329	SUCCESS
BRD8	10902	.	GRCh37	5	137475588	137475588	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	21	0	ENST00000254900.5:c.*175G>T			ENST00000254900	NM_139199.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4198.1	.	MUTECT|MUSE	.	TTCCCCTTTTT	NONE	.	.	.	.	.	ENSP00000254900	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000254900	Transcript	.	.	ENSG00000112983	19874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRD8_HUMAN	BRD8	HGNC	F8WDX5_HUMAN,F8WBH2_HUMAN	.	UPI0000246C01	SNV	BRD8,3_prime_UTR_variant,,ENST00000254900,;NME5,upstream_gene_variant,,ENST00000265191,;BRD8,downstream_gene_variant,,ENST00000427976,;NME5,upstream_gene_variant,,ENST00000512954,;NME5,upstream_gene_variant,,ENST00000511353,;	4255	21	27	SUCCESS
OR2H1	26716	.	GRCh37	6	29431843	29431843	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	27	59	0	ENST00000377132.1:c.*331C>T			ENST00000377132				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCCAGTTG	NONE	.	.	.	.	.	ENSP00000366340	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377136	Transcript	.	.	ENSG00000204688	8252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2H1_HUMAN	OR2H1	HGNC	Q8IU63_HUMAN	.	UPI000000DCA7	SNV	OR2H1,3_prime_UTR_variant,,ENST00000442615,;OR2H1,3_prime_UTR_variant,,ENST00000377136,;OR2H1,3_prime_UTR_variant,,ENST00000377133,;OR2H1,3_prime_UTR_variant,,ENST00000377132,;OR2H1,downstream_gene_variant,,ENST00000396792,;OR2H1,downstream_gene_variant,,ENST00000473369,;OR2H1,downstream_gene_variant,,ENST00000484371,;OR2H1,downstream_gene_variant,,ENST00000484554,;UBDP1,downstream_gene_variant,,ENST00000457888,;	2762	59	84	SUCCESS
CER1	9350	.	GRCh37	9	14719997	14719997	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	26	0	ENST00000380911.3:c.*91A>T			ENST00000380911	NM_005454.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6476.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATGTTAT	NONE	.	.	.	.	.	ENSP00000370297	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000380911	Transcript	.	.	ENSG00000147869	1862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CER1_HUMAN	CER1	HGNC	.	.	UPI0000051056	SNV	CER1,3_prime_UTR_variant,,ENST00000380911,;	940	26	18	SUCCESS
MTM1	4534	.	GRCh37	X	149840127	149840127	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	46	0	ENST00000370396.2:c.*59G>T			ENST00000370396	NM_000252.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14694.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGGGGCA	NONE	.	.	.	.	.	ENSP00000359423	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000370396	Transcript	.	.	ENSG00000171100	7448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTM1_HUMAN	MTM1	HGNC	B7Z499_HUMAN	.	UPI000012F7F5	SNV	MTM1,3_prime_UTR_variant,,ENST00000542741,;MTM1,3_prime_UTR_variant,,ENST00000543350,;MTM1,3_prime_UTR_variant,,ENST00000370396,;MTM1,downstream_gene_variant,,ENST00000413012,;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;	1925	46	42	SUCCESS
ATRX	546	.	GRCh37	X	76763695	76763695	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9GZ-01	TCGA-2Y-A9GZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	25	0	ENST00000373344.5:c.*134T>A			ENST00000373344	NM_000489.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14434.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTAAAACT	NONE	.	.	.	.	.	ENSP00000362441	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,3_prime_UTR_variant,,ENST00000395603,;ATRX,3_prime_UTR_variant,,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;	7828	25	30	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	40	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|MUSE	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	41	27	SUCCESS
GLB1L3	112937	.	GRCh37	11	134188858	134188859	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	54	30	38	0	ENST00000431683.2:c.*22_*23insA			ENST00000431683	NM_001080407.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44780.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTTTTTTTT	NONE	.	.	.	.	.	ENSP00000396615	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000431683	Transcript	.	.	ENSG00000166105	25147	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLBL3_HUMAN	GLB1L3	HGNC	.	.	UPI0001633637	insertion	GLB1L3,3_prime_UTR_variant,,ENST00000431683,;GLB1L3,3_prime_UTR_variant,,ENST00000455971,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000467068,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000498012,;GLB1L3,downstream_gene_variant,,ENST00000410100,;AP000859.4,upstream_gene_variant,,ENST00000525536,;	1984-1985	38	84	SUCCESS
NAALADL1	10004	.	GRCh37	11	64812742	64812742	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs757027806	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	19	57	0	ENST00000358658.3:c.*1C>T			ENST00000358658	NM_005468.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGTCAGA	NONE	.	.	.	.	.	ENSP00000351484	.	18/18	.	.	.	.	.	.	.	.	rs757027806	18/18	PASS	ENST00000358658	Transcript	.	.	ENSG00000168060	23536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NALDL_HUMAN	NAALADL1	HGNC	E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN	.	UPI000013E761	SNV	NAALADL1,3_prime_UTR_variant,,ENST00000339885,;NAALADL1,3_prime_UTR_variant,,ENST00000358658,;NAALADL1,3_prime_UTR_variant,,ENST00000526799,;NAALADL1,3_prime_UTR_variant,,ENST00000355369,;NAALADL1,intron_variant,,ENST00000533753,;NAALADL1,downstream_gene_variant,,ENST00000533340,;NAALADL1,downstream_gene_variant,,ENST00000340252,;SAC3D1,downstream_gene_variant,,ENST00000531072,;SAC3D1,downstream_gene_variant,,ENST00000398846,;SNX15,downstream_gene_variant,,ENST00000377244,;NAALADL1,downstream_gene_variant,,ENST00000528884,;NAALADL1,downstream_gene_variant,,ENST00000356632,;NAALADL1,downstream_gene_variant,,ENST00000355721,;NAALADL1,downstream_gene_variant,,ENST00000526516,;NAALADL1,downstream_gene_variant,,ENST00000532802,;NAALADL1,downstream_gene_variant,,ENST00000530995,;NAALADL1,downstream_gene_variant,,ENST00000533842,;SAC3D1,downstream_gene_variant,,ENST00000529996,;NAALADL1,downstream_gene_variant,,ENST00000530139,;RN7SL114P,downstream_gene_variant,,ENST00000582042,;SAC3D1,downstream_gene_variant,,ENST00000533017,;SAC3D1,downstream_gene_variant,,ENST00000528109,;SAC3D1,downstream_gene_variant,,ENST00000530213,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,intron_variant,,ENST00000532450,;NAALADL1,downstream_gene_variant,,ENST00000534568,;RP11-399J13.3,downstream_gene_variant,,ENST00000301886,;NAALADL1,downstream_gene_variant,,ENST00000524445,;SNX15,downstream_gene_variant,,ENST00000526702,;NAALADL1,downstream_gene_variant,,ENST00000529685,;NAALADL1,downstream_gene_variant,,ENST00000532432,;NAALADL1,downstream_gene_variant,,ENST00000531746,;NAALADL1,downstream_gene_variant,,ENST00000531174,;	2252	58	50	SUCCESS
ING1	3621	.	GRCh37	13	111365267	111365267	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs779707454	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	166	0				ENST00000375774	NM_005537.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9517.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGGATGGCGC	NONE	.	2062	.	.	.	ENSP00000364929	.	.	.	.	.	.	.	.	.	.	rs779707454	.	PASS	ENST00000375774	Transcript	.	.	ENSG00000153487	6062	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ING1_HUMAN	ING1	HGNC	.	.	UPI000013DD4A	SNV	ING1,5_prime_UTR_variant,,ENST00000338450,;ING1,upstream_gene_variant,,ENST00000333219,;ING1,upstream_gene_variant,,ENST00000375774,;ING1,upstream_gene_variant,,ENST00000375775,;CARS2,intron_variant,,ENST00000544488,;CARS2,intron_variant,,ENST00000535398,;CARS2,intron_variant,,ENST00000542126,;CARS2,intron_variant,,ENST00000537412,;CARS2,intron_variant,,ENST00000485188,;ING1,upstream_gene_variant,,ENST00000464141,;CARS2,upstream_gene_variant,,ENST00000540629,;	.	167	104	SUCCESS
FLRT2	23768	.	GRCh37	14	86093811	86093812	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs747237734	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	67	0	ENST00000330753.4:c.*3977dup			ENST00000330753	NM_013231.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9877.1	.	INDELOCATOR|VARSCANI	.	AACAAATTTTT	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	rs747237734	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	insertion	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,downstream_gene_variant,,ENST00000553650,;	6720-6721	67	74	SUCCESS
RDM1	201299	.	GRCh37	17	34245209	34245209	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs984215038	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	8	0	ENST00000293273.6:c.*137C>T			ENST00000293273	NM_145654.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11301.1	.	MUTECT|MUSE	.	CCTTCGCCAGG	NONE	.	.	.	.	.	ENSP00000293273	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000293273	Transcript	.	.	ENSG00000187456	19950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RDM1_HUMAN	RDM1	HGNC	.	.	UPI0000044E0F	SNV	RDM1,3_prime_UTR_variant,,ENST00000293273,;RDM1,3_prime_UTR_variant,,ENST00000431884,;RDM1,3_prime_UTR_variant,,ENST00000394529,;RDM1,downstream_gene_variant,,ENST00000394528,;RDM1,downstream_gene_variant,,ENST00000430160,;RDM1,downstream_gene_variant,,ENST00000419453,;RDM1,downstream_gene_variant,,ENST00000394527,;RDM1,downstream_gene_variant,,ENST00000425909,;RDM1,downstream_gene_variant,,ENST00000591402,;RDM1,downstream_gene_variant,,ENST00000585884,;RDM1,downstream_gene_variant,,ENST00000585939,;RDM1,downstream_gene_variant,,ENST00000591420,;RDM1,downstream_gene_variant,,ENST00000592489,;RDM1,downstream_gene_variant,,ENST00000436836,;LRRC37A9P,upstream_gene_variant,,ENST00000586565,;	1038	8	20	SUCCESS
CSH2	1443	.	GRCh37	17	61949439	61949439	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	21	63	0	ENST00000392886.2:c.*47T>A			ENST00000392886	NM_020991.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCAGGAGA	NONE	.	.	.	.	.	ENSP00000376623	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000392886	Transcript	.	.	ENSG00000213218	2441	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSH_HUMAN	CSH2	HGNC	Q7KZ35_HUMAN,P78451_HUMAN	.	UPI0000073C6A	SNV	CSH2,3_prime_UTR_variant,,ENST00000392886,;CSH2,3_prime_UTR_variant,,ENST00000560142,;CSH2,3_prime_UTR_variant,,ENST00000336844,;CSH2,3_prime_UTR_variant,,ENST00000345366,;CSH2,non_coding_transcript_exon_variant,,ENST00000559928,;CSH2,non_coding_transcript_exon_variant,,ENST00000558516,;	853	63	87	SUCCESS
EMR3	0	.	GRCh37	19	14730167	14730167	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	21	0	ENST00000253673.5:c.*78A>T			ENST00000253673	NM_032571.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12315.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCTTTTCC	NONE	.	.	.	.	.	ENSP00000253673	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000253673	Transcript	.	.	ENSG00000131355	23647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR3_HUMAN	EMR3	HGNC	M0R1G2_HUMAN	.	UPI0000456C29	SNV	EMR3,3_prime_UTR_variant,,ENST00000253673,;EMR3,3_prime_UTR_variant,,ENST00000599900,;EMR3,3_prime_UTR_variant,,ENST00000344373,;EMR3,3_prime_UTR_variant,,ENST00000443157,;ITGB1P1,downstream_gene_variant,,ENST00000596032,;	2138	21	31	SUCCESS
PRPF31	26121	.	GRCh37	19	54634878	54634878	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs775037640	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	41	107	0	ENST00000321030.4:c.*15C>A			ENST00000321030	NM_015629.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCCAAGG	NONE	.	.	.	.	.	ENSP00000324122	.	14/14	.	.	.	.	.	.	.	.	rs775037640	14/14	PASS	ENST00000321030	Transcript	1	.	ENSG00000105618	15446	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRP31_HUMAN	PRPF31	HGNC	F1T0A5_HUMAN,E7EU94_HUMAN,E7ESX0_HUMAN,E7EN72_HUMAN	.	UPI000013D407	SNV	PRPF31,3_prime_UTR_variant,,ENST00000419967,;PRPF31,3_prime_UTR_variant,,ENST00000321030,;PRPF31,3_prime_UTR_variant,,ENST00000391755,;PRPF31,downstream_gene_variant,,ENST00000498612,;PRPF31,non_coding_transcript_exon_variant,,ENST00000466404,;	1864	107	92	SUCCESS
GON4L	54856	.	GRCh37	1	155719608	155719608	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	56	127	0	ENST00000368331.1:c.*767C>A			ENST00000368331	NM_001037533.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44242.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGAGTTT	NONE	.	.	.	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,3_prime_UTR_variant,,ENST00000437809,;GON4L,3_prime_UTR_variant,,ENST00000368331,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,downstream_gene_variant,,ENST00000271883,;GON4L,downstream_gene_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,intron_variant,,ENST00000538914,;MSTO2P,intron_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	7613	127	175	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186957738	186957738	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	30	0	ENST00000367466.3:c.*98C>A			ENST00000367466	NM_024420.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1372.1	.	MUTECT|MUSE	.	CTGATCATGAG	NONE	.	.	.	.	.	ENSP00000356436	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,3_prime_UTR_variant,,ENST00000442353,;PLA2G4A,3_prime_UTR_variant,,ENST00000367466,;	2500	30	54	SUCCESS
RGPD4	285190	.	GRCh37	2	108443390	108443390	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	11	148	0				ENST00000408999	NM_182588.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46381.1	.	MUTECT|MUSE|VARSCANS	.	TTCAGGCGCTT	NONE	.	3	.	.	.	ENSP00000386810	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,5_prime_UTR_variant,,ENST00000354986,;RGPD4,upstream_gene_variant,,ENST00000408999,;RGPD4-AS1,upstream_gene_variant,,ENST00000593452,;RGPD4-AS1,upstream_gene_variant,,ENST00000609972,;RGPD4-AS1,upstream_gene_variant,,ENST00000417284,;RGPD4-AS1,upstream_gene_variant,,ENST00000457647,;GACAT1,downstream_gene_variant,,ENST00000441383,;RGPD4-AS1,upstream_gene_variant,,ENST00000609354,;RGPD4-AS1,upstream_gene_variant,,ENST00000594764,;	.	148	127	SUCCESS
PLCD4	84812	.	GRCh37	2	219501434	219501434	+	intron_variant	Intron	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	13	0	ENST00000417849.1:c.*1+133T>A			ENST00000417849				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46516.1	.	MUTECT|MUSE	.	TTACCTCATTC	NONE	.	.	.	.	.	ENSP00000388631	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000450993	Transcript	.	.	ENSG00000115556	9062	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLCD4_HUMAN	PLCD4	HGNC	C9JAE4_HUMAN	.	UPI0000044279	SNV	PLCD4,3_prime_UTR_variant,,ENST00000450993,;PLCD4,3_prime_UTR_variant,,ENST00000432688,;PLCD4,intron_variant,,ENST00000417849,;PLCD4,intron_variant,,ENST00000457773,;ZNF142,downstream_gene_variant,,ENST00000411696,;ZNF142,downstream_gene_variant,,ENST00000449707,;RP11-548H3.1,upstream_gene_variant,,ENST00000607946,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;ZNF142,downstream_gene_variant,,ENST00000450765,;PLCD4,downstream_gene_variant,,ENST00000484718,;PLCD4,downstream_gene_variant,,ENST00000497482,;ZNF142,downstream_gene_variant,,ENST00000433921,;PLCD4,downstream_gene_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000458239,;PLCD4,downstream_gene_variant,,ENST00000483685,;	2762	13	20	SUCCESS
FETUB	26998	.	GRCh37	3	186370435	186370435	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	22	0	ENST00000265029.3:c.*15C>A			ENST00000265029	NM_014375.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3279.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTCTTCTG	NONE	.	.	.	.	.	ENSP00000265029	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000265029	Transcript	.	.	ENSG00000090512	3658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FETUB_HUMAN	FETUB	HGNC	C9JC68_HUMAN,B7Z8T3_HUMAN	.	UPI00000361F3	SNV	FETUB,3_prime_UTR_variant,,ENST00000539949,;FETUB,3_prime_UTR_variant,,ENST00000265029,;FETUB,downstream_gene_variant,,ENST00000431018,;FETUB,downstream_gene_variant,,ENST00000450521,;FETUB,downstream_gene_variant,,ENST00000382134,;FETUB,downstream_gene_variant,,ENST00000382136,;RP11-134F2.2,intron_variant,,ENST00000428501,;RP11-134F2.2,intron_variant,,ENST00000455926,;FETUB,3_prime_UTR_variant,,ENST00000435961,;FETUB,3_prime_UTR_variant,,ENST00000420570,;	1265	22	30	SUCCESS
INSIG1	3638	.	GRCh37	7	155100100	155100100	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	64	0	ENST00000340368.4:c.*120A>G			ENST00000340368	NM_005542.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5938.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAAATGACT	NONE	.	.	.	.	.	ENSP00000344741	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000340368	Transcript	.	.	ENSG00000186480	6083	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSI1_HUMAN	INSIG1	HGNC	C9JSG8_HUMAN	.	UPI00000015DE	SNV	INSIG1,3_prime_UTR_variant,,ENST00000344756,;INSIG1,3_prime_UTR_variant,,ENST00000340368,;INSIG1,3_prime_UTR_variant,,ENST00000342407,;INSIG1,3_prime_UTR_variant,,ENST00000476756,;	1165	64	45	SUCCESS
TRGC1	6966	.	GRCh37	7	38299639	38299639	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	51	0	ENST00000443402.2:c.*50A>G			ENST00000443402	NM_001003806.1			0	.	.	.	.	.	C	.	TR_C_gene	YES	.	.	RADIA|MUTECT|VARSCANS	.	GCTTCTAGGGA	NONE	.	.	.	.	.	ENSP00000404817	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000443402	Transcript	.	.	ENSG00000211689	12275	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TRGC1	HGNC	Q0VGM3_HUMAN	.	UPI0000F3036A	SNV	TRGC1,3_prime_UTR_variant,,ENST00000443402,;TRGJP2,upstream_gene_variant,,ENST00000390334,;	571	51	67	SUCCESS
CSMD1	64478	.	GRCh37	8	4851999	4851999	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	19	0				ENST00000537824	NM_033225.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55189.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTATGAGCGG	NONE	.	61	.	.	.	ENSP00000441462	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537824	Transcript	.	.	ENSG00000183117	14026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CSMD1	HGNC	F5GZ18_HUMAN	.	UPI0001B723C6	SNV	CSMD1,5_prime_UTR_variant,,ENST00000400186,;CSMD1,5_prime_UTR_variant,,ENST00000602723,;CSMD1,5_prime_UTR_variant,,ENST00000602557,;CSMD1,5_prime_UTR_variant,,ENST00000520002,;CSMD1,upstream_gene_variant,,ENST00000542608,;CSMD1,upstream_gene_variant,,ENST00000539096,;CSMD1,upstream_gene_variant,,ENST00000537824,;	.	19	18	SUCCESS
HNF4G	3174	.	GRCh37	8	76476484	76476484	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H0-01	TCGA-2Y-A9H0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	8	0	ENST00000354370.1:c.*153T>A			ENST00000354370				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6220.2	.	MUTECT|MUSE|VARSCANS	.	TTCATTCTGTT	NONE	.	.	.	.	.	ENSP00000379701	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000396423	Transcript	.	.	ENSG00000164749	5026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HNF4G_HUMAN	HNF4G	HGNC	F1D8Q4_HUMAN	.	UPI0000D47E07	SNV	HNF4G,3_prime_UTR_variant,,ENST00000396423,;HNF4G,3_prime_UTR_variant,,ENST00000354370,;	1615	8	14	SUCCESS
C11orf31	0	.	GRCh37	11	57509691	57509691	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	37	120	0	ENST00000388857.4:c.*2G>T			ENST00000388857				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44602.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGGAGATT	NONE	.	.	.	.	.	ENSP00000373509	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000388857	Transcript	.	.	ENSG00000211450	18251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELH_HUMAN	C11orf31	HGNC	.	.	UPI0000163E14	SNV	C11orf31,3_prime_UTR_variant,,ENST00000528798,;C11orf31,3_prime_UTR_variant,,ENST00000534355,;C11orf31,3_prime_UTR_variant,,ENST00000388857,;BTBD18,downstream_gene_variant,,ENST00000436147,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;BTBD18,downstream_gene_variant,,ENST00000422652,;TMX2,downstream_gene_variant,,ENST00000278422,;RP11-691N7.6,3_prime_UTR_variant,,ENST00000531074,;C11orf31,non_coding_transcript_exon_variant,,ENST00000533321,;C11orf31,non_coding_transcript_exon_variant,,ENST00000534386,;TMX2-CTNND1,intron_variant,,ENST00000528395,;TMX2,downstream_gene_variant,,ENST00000525035,;TMX2,downstream_gene_variant,,ENST00000528110,;TMX2,downstream_gene_variant,,ENST00000530114,;TMX2,downstream_gene_variant,,ENST00000529403,;TMX2,downstream_gene_variant,,ENST00000528042,;TMX2,downstream_gene_variant,,ENST00000524972,;TMX2,downstream_gene_variant,,ENST00000533602,;	395	120	132	SUCCESS
KCNJ2	3759	.	GRCh37	17	68175906	68175906	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	19	24	0	ENST00000243457.3:c.*3442T>C			ENST00000243457	NM_000891.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATGTTAA	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	5109	24	112	SUCCESS
TGIF1	7050	.	GRCh37	18	3447754	3447754	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	46	97	0				ENST00000330513	NM_170695.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11834.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCAAAAGTT	NONE	.	3921	.	.	.	ENSP00000327959	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000330513	Transcript	.	.	ENSG00000177426	11776	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGIF1_HUMAN	TGIF1	HGNC	F8VZH2_HUMAN,F8VXG3_HUMAN,F8VX54_HUMAN,F8VWK5_HUMAN,F8VW34_HUMAN,F8VVS9_HUMAN,F8VUY0_HUMAN	.	UPI0000140386	SNV	TGIF1,missense_variant,p.Lys6Arg,ENST00000548489,;TGIF1,intron_variant,,ENST00000401449,;TGIF1,intron_variant,,ENST00000552383,;TGIF1,intron_variant,,ENST00000550958,;TGIF1,upstream_gene_variant,,ENST00000345133,;TGIF1,upstream_gene_variant,,ENST00000577543,;TGIF1,upstream_gene_variant,,ENST00000551541,;TGIF1,upstream_gene_variant,,ENST00000549780,;TGIF1,upstream_gene_variant,,ENST00000343820,;TGIF1,upstream_gene_variant,,ENST00000546979,;TGIF1,upstream_gene_variant,,ENST00000405385,;TGIF1,upstream_gene_variant,,ENST00000551402,;TGIF1,upstream_gene_variant,,ENST00000407501,;TGIF1,upstream_gene_variant,,ENST00000549546,;TGIF1,upstream_gene_variant,,ENST00000549253,;TGIF1,upstream_gene_variant,,ENST00000330513,;TGIF1,upstream_gene_variant,,ENST00000551557,;	.	97	122	SUCCESS
HSD11B1	3290	.	GRCh37	1	209907934	209907934	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	15	0	ENST00000367027.3:c.*68T>G			ENST00000367027	NM_005525.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1489.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTTATCT	NONE	.	.	.	.	.	ENSP00000355995	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367028	Transcript	.	.	ENSG00000117594	5208	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHI1_HUMAN	HSD11B1	HGNC	.	.	UPI000004C796	SNV	HSD11B1,3_prime_UTR_variant,,ENST00000367027,;HSD11B1,3_prime_UTR_variant,,ENST00000261465,;HSD11B1,3_prime_UTR_variant,,ENST00000367028,;	1116	15	23	SUCCESS
GJB4	127534	.	GRCh37	1	35229082	35229082	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	71	0	ENST00000339480.1:c.*1428del			ENST00000339480	NM_153212.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS383.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CGTGCCTTTGTC	NONE	.	.	.	.	.	ENSP00000345868	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339480	Transcript	.	.	ENSG00000189433	4286	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXB4_HUMAN	GJB4	HGNC	.	.	UPI0000051E4B	deletion	GJB4,3_prime_UTR_variant,,ENST00000339480,;GJB5,downstream_gene_variant,,ENST00000338513,;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	2597	71	95	SUCCESS
SRRD	402055	.	GRCh37	22	26887916	26887916	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs951650594	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	30	0	ENST00000215917.7:c.*278T>C			ENST00000215917	NM_001013694.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13838.1	.	MUTECT|MUSE	.	AATACTGTTTA	NONE	.	.	.	.	.	ENSP00000384421	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000407690	Transcript	.	.	ENSG00000100109	17165	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TFP11_HUMAN	TFIP11	HGNC	F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN	.	UPI0000137191	SNV	TFIP11,3_prime_UTR_variant,,ENST00000407431,;TFIP11,3_prime_UTR_variant,,ENST00000407148,;SRRD,3_prime_UTR_variant,,ENST00000215917,;TFIP11,3_prime_UTR_variant,,ENST00000407690,;TFIP11,downstream_gene_variant,,ENST00000405938,;TFIP11,non_coding_transcript_exon_variant,,ENST00000492137,;SRRD,downstream_gene_variant,,ENST00000477945,;SRRD,downstream_gene_variant,,ENST00000471799,;	2861	30	44	SUCCESS
RASL10A	10633	.	GRCh37	22	29708103	29708103	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	119	0				ENST00000216101	NM_006477.4			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGCTCCT	NONE	.	20	.	.	.	ENSP00000344012	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,3_prime_UTR_variant,,ENST00000403764,;GAS2L1,3_prime_UTR_variant,,ENST00000407854,;GAS2L1,3_prime_UTR_variant,,ENST00000471961,;GAS2L1,3_prime_UTR_variant,,ENST00000360113,;GAS2L1,3_prime_UTR_variant,,ENST00000407647,;GAS2L1,intron_variant,,ENST00000406549,;RASL10A,downstream_gene_variant,,ENST00000401450,;GAS2L1,downstream_gene_variant,,ENST00000428622,;GAS2L1,downstream_gene_variant,,ENST00000416823,;GAS2L1,downstream_gene_variant,,ENST00000341313,;RASL10A,downstream_gene_variant,,ENST00000216101,;AC002059.10,downstream_gene_variant,,ENST00000608014,;RASL10A,downstream_gene_variant,,ENST00000474590,;RASL10A,downstream_gene_variant,,ENST00000608559,;GAS2L1,downstream_gene_variant,,ENST00000487341,;GAS2L1,downstream_gene_variant,,ENST00000491016,;	.	119	100	SUCCESS
PTPN4	5775	.	GRCh37	2	120734669	120734669	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	95	210	0	ENST00000263708.2:c.*23T>C			ENST00000263708	NM_002830.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2129.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATGTGTT	NONE	.	.	.	.	.	ENSP00000263708	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000263708	Transcript	.	.	ENSG00000088179	9656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTN4_HUMAN	PTPN4	HGNC	Q580X3_HUMAN,Q53QV5_HUMAN,Q53Q76_HUMAN,Q4ZG31_HUMAN,J3KQP5_HUMAN,F5H1A0_HUMAN	.	UPI0000000CA9	SNV	PTPN4,3_prime_UTR_variant,,ENST00000544261,;PTPN4,3_prime_UTR_variant,,ENST00000263708,;PTPN4,downstream_gene_variant,,ENST00000441089,;PTPN4,3_prime_UTR_variant,,ENST00000430976,;	3575	210	284	SUCCESS
SEC62	7095	.	GRCh37	3	169684285	169684285	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	14	0				ENST00000337002	NM_003262.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3210.1	.	MUTECT|MUSE	.	TCGGGGAATCT	NONE	.	268	.	.	.	ENSP00000337688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337002	Transcript	.	.	ENSG00000008952	11846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEC62_HUMAN	SEC62	HGNC	D3DNQ1_HUMAN	.	UPI000007186C	SNV	SEC62,upstream_gene_variant,,ENST00000480708,;SEC62,upstream_gene_variant,,ENST00000337002,;RP11-379K17.4,non_coding_transcript_exon_variant,,ENST00000469301,;RP11-379K17.4,upstream_gene_variant,,ENST00000487580,;RP11-379K17.4,upstream_gene_variant,,ENST00000483289,;RP11-379K17.4,upstream_gene_variant,,ENST00000600502,;SEC62,upstream_gene_variant,,ENST00000461933,;SEC62,upstream_gene_variant,,ENST00000481435,;SEC62,upstream_gene_variant,,ENST00000469515,;SEC62,upstream_gene_variant,,ENST00000487736,;SEC62,upstream_gene_variant,,ENST00000460513,;	.	14	18	SUCCESS
TGM4	7047	.	GRCh37	3	44959607	44959607	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	49	0				ENST00000296125	NM_003241.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2723.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCTGGTTC	NONE	.	3125	.	.	.	ENSP00000296125	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296125	Transcript	.	.	ENSG00000163810	11780	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGM4_HUMAN	TGM4	HGNC	Q9UBL5_HUMAN	.	UPI0000136CCD	SNV	ZDHHC3,missense_variant,p.Gln123Leu,ENST00000339420,;ZDHHC3,downstream_gene_variant,,ENST00000443879,;TGM4,downstream_gene_variant,,ENST00000296125,;ZDHHC3,non_coding_transcript_exon_variant,,ENST00000466084,;	.	49	47	SUCCESS
MSX2	4488	.	GRCh37	5	174156654	174156654	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1581520604	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	455	395	608	3	ENST00000239243.6:c.*68A>G			ENST00000239243	NM_002449.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4392.1	.	RADIA|VARSCANS	.	CACGAAGGCAG	NONE	.	.	.	.	.	ENSP00000239243	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000239243	Transcript	1	.	ENSG00000120149	7392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSX2_HUMAN	MSX2	HGNC	.	.	UPI000013CA79	SNV	MSX2,3_prime_UTR_variant,,ENST00000239243,;MSX2,downstream_gene_variant,,ENST00000507785,;	999	611	851	SUCCESS
SNX18	112574	.	GRCh37	5	53816125	53816125	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs913118219	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	121	205	0	ENST00000326277.3:c.*456A>G			ENST00000326277	NM_052870.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3962.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAACTAT	NONE	.	.	.	.	.	ENSP00000317332	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326277	Transcript	.	.	ENSG00000178996	19245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX18_HUMAN	SNX18	HGNC	.	.	UPI00001418B0	SNV	SNX18,3_prime_UTR_variant,,ENST00000326277,;SNX18,intron_variant,,ENST00000343017,;SNX18,intron_variant,,ENST00000381410,;	2533	205	253	SUCCESS
DAXX	1616	.	GRCh37	6	33283384	33283384	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	35	115	0				ENST00000374542	NM_001141970.1	437		0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS4775.1	1310	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAGGATGAG	NONE	.	.	hmmpanther:PTHR24414:SF4,hmmpanther:PTHR24414,Low_complexity_(Seg):seg	.	.	ENSP00000407545	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431845	Transcript	.	.	ENSG00000236104	13085	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.928)	.	tolerated(0.7)	.	ZBT22_HUMAN	ZBTB22	HGNC	A2AB93_HUMAN	.	UPI000013C34E	SNV	ZBTB22,missense_variant,p.Ser437Phe,ENST00000431845,;ZBTB22,missense_variant,p.Ser437Phe,ENST00000418724,;TAPBP,upstream_gene_variant,,ENST00000489157,;DAXX,downstream_gene_variant,,ENST00000374542,;TAPBP,upstream_gene_variant,,ENST00000456592,;DAXX,downstream_gene_variant,,ENST00000414083,;ZBTB22,downstream_gene_variant,,ENST00000441117,;TAPBP,upstream_gene_variant,,ENST00000467025,;TAPBP,upstream_gene_variant,,ENST00000426633,;TAPBP,upstream_gene_variant,,ENST00000434618,;TAPBP,upstream_gene_variant,,ENST00000475304,;DAXX,downstream_gene_variant,,ENST00000266000,;DAXX,downstream_gene_variant,,ENST00000468536,;DAXX,downstream_gene_variant,,ENST00000477162,;TAPBP,upstream_gene_variant,,ENST00000476333,;TAPBP,upstream_gene_variant,,ENST00000437116,;TAPBP,upstream_gene_variant,,ENST00000480730,;DAXX,downstream_gene_variant,,ENST00000490173,;	1462	115	101	SUCCESS
UNC5CL	222643	.	GRCh37	6	40996001	40996001	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	9	0	ENST00000244565.3:c.*111C>A			ENST00000244565	NM_173561.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4847.1	.	MUTECT|MUSE	.	CGAGGGTTCTG	NONE	.	.	.	.	.	ENSP00000244565	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244565	Transcript	.	.	ENSG00000124602	21203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UN5CL_HUMAN	UNC5CL	HGNC	H8YHX0_HUMAN	.	UPI00001609DB	SNV	UNC5CL,3_prime_UTR_variant,,ENST00000244565,;UNC5CL,downstream_gene_variant,,ENST00000373164,;UNC5CL,downstream_gene_variant,,ENST00000470102,;	1757	9	12	SUCCESS
GPRASP1	9737	.	GRCh37	X	101913405	101913405	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9H1-01	TCGA-2Y-A9H1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	174	173	242	0	ENST00000361600.5:c.*376T>G			ENST00000361600	NM_014710.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35352.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATTAAAAT	NONE	.	.	.	.	.	ENSP00000445683	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000537097	Transcript	.	.	ENSG00000198932	24834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GASP1_HUMAN	GPRASP1	HGNC	.	.	UPI0000073B80	SNV	GPRASP1,3_prime_UTR_variant,,ENST00000415986,;GPRASP1,3_prime_UTR_variant,,ENST00000361600,;GPRASP1,3_prime_UTR_variant,,ENST00000537097,;GPRASP1,3_prime_UTR_variant,,ENST00000444152,;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000602463,;RP4-769N13.6,intron_variant,,ENST00000602366,;GPRASP1,downstream_gene_variant,,ENST00000466098,;	5377	242	347	SUCCESS
SAT2	112483	.	GRCh37	17	7529593	7529593	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	14	0	ENST00000269298.5:c.*172C>A			ENST00000269298	NM_133491.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11116.1	.	MUTECT|MUSE	.	ACAAGGAAGAA	NONE	.	.	.	.	.	ENSP00000269298	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000269298	Transcript	.	.	ENSG00000141504	23160	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAT2_HUMAN	SAT2	HGNC	.	.	UPI00000736AF	SNV	SAT2,3_prime_UTR_variant,,ENST00000269298,;SHBG,intron_variant,,ENST00000576478,;SHBG,intron_variant,,ENST00000575314,;SHBG,intron_variant,,ENST00000572262,;SHBG,intron_variant,,ENST00000570547,;SHBG,intron_variant,,ENST00000574539,;SHBG,intron_variant,,ENST00000572182,;SHBG,intron_variant,,ENST00000576728,;SHBG,upstream_gene_variant,,ENST00000416273,;SHBG,upstream_gene_variant,,ENST00000575618,;SHBG,upstream_gene_variant,,ENST00000576152,;SHBG,upstream_gene_variant,,ENST00000340624,;SHBG,upstream_gene_variant,,ENST00000575729,;SHBG,upstream_gene_variant,,ENST00000441599,;SHBG,upstream_gene_variant,,ENST00000380450,;SAT2,downstream_gene_variant,,ENST00000573566,;SHBG,upstream_gene_variant,,ENST00000575903,;SHBG,upstream_gene_variant,,ENST00000571153,;SHBG,upstream_gene_variant,,ENST00000576830,;SAT2,non_coding_transcript_exon_variant,,ENST00000380466,;SAT2,downstream_gene_variant,,ENST00000570850,;SAT2,downstream_gene_variant,,ENST00000576686,;SAT2,non_coding_transcript_exon_variant,,ENST00000576579,;SAT2,non_coding_transcript_exon_variant,,ENST00000576846,;SAT2,non_coding_transcript_exon_variant,,ENST00000570914,;SHBG,upstream_gene_variant,,ENST00000570527,;SHBG,upstream_gene_variant,,ENST00000570353,;SAT2,downstream_gene_variant,,ENST00000572224,;SAT2,downstream_gene_variant,,ENST00000575114,;SAT2,downstream_gene_variant,,ENST00000571195,;SAT2,downstream_gene_variant,,ENST00000571074,;SAT2,downstream_gene_variant,,ENST00000575826,;SAT2,downstream_gene_variant,,ENST00000573930,;	905	14	18	SUCCESS
INADL	0	.	GRCh37	1	62626759	62626759	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H2-01	TCGA-2Y-A9H2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	9	0	ENST00000371158.2:c.*152G>A			ENST00000371158	NM_176877.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS617.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGTTTAG	NONE	.	.	.	.	.	ENSP00000360200	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,3_prime_UTR_variant,,ENST00000371158,;INADL,3_prime_UTR_variant,,ENST00000484937,;	5672	9	20	SUCCESS
NAP1L4	4676	.	GRCh37	11	2970488	2970488	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	148	610	0	ENST00000380542.4:c.*1T>C			ENST00000380542	NM_005969.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41599.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAATTACA	NONE	.	.	.	.	.	ENSP00000369915	.	15/16	.	.	.	.	.	.	.	.	.	15/16	PASS	ENST00000380542	Transcript	.	.	ENSG00000205531	7640	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NP1L4_HUMAN	NAP1L4	HGNC	E9PS34_HUMAN,E9PNW0_HUMAN,E9PNJ7_HUMAN,E9PKI2_HUMAN,E9PJJ2_HUMAN,C9J6D1_HUMAN,A8MXH2_HUMAN	.	UPI00001303EA	SNV	NAP1L4,3_prime_UTR_variant,,ENST00000380542,;NAP1L4,intron_variant,,ENST00000526115,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000469089,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000526023,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000469805,;NAP1L4,intron_variant,,ENST00000492594,;NAP1L4,intron_variant,,ENST00000492685,;	1270	610	440	SUCCESS
NFYB	4801	.	GRCh37	12	104513493	104513493	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	65	0	ENST00000240055.3:c.*22G>C			ENST00000240055	NM_006166.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9098.1	.	MUTECT|MUSE|VARSCANS	.	CACTCCCCATT	NONE	.	.	.	.	.	ENSP00000240055	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240055	Transcript	.	.	ENSG00000120837	7805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NFYB_HUMAN	NFYB	HGNC	.	.	UPI0000127178	SNV	NFYB,3_prime_UTR_variant,,ENST00000551727,;NFYB,3_prime_UTR_variant,,ENST00000240055,;NFYB,downstream_gene_variant,,ENST00000551446,;NFYB,downstream_gene_variant,,ENST00000550189,;	874	65	76	SUCCESS
ABHD13	84945	.	GRCh37	13	108883743	108883743	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1376898811	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	267	39	222	0	ENST00000375898.3:c.*1163A>G			ENST00000375898	NM_032859.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32007.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTACATGTAG	NONE	.	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	2478	222	307	SUCCESS
SLITRK5	26050	.	GRCh37	13	88331818	88331818	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	17	103	0	ENST00000325089.6:c.*1298G>A			ENST00000325089	NM_015567.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9465.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAGCACAT	NONE	.	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,downstream_gene_variant,,ENST00000400028,;	4394	103	92	SUCCESS
DUT	1854	.	GRCh37	15	48634290	48634290	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	35	138	0	ENST00000331200.3:c.*15A>T			ENST00000331200	NM_001025248.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32231.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGAACAGAA	NONE	.	.	.	.	.	ENSP00000370376	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000331200	Transcript	.	.	ENSG00000128951	3078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUT_HUMAN	DUT	HGNC	.	.	UPI000035ECE0	SNV	DUT,3_prime_UTR_variant,,ENST00000558813,;DUT,3_prime_UTR_variant,,ENST00000455976,;DUT,3_prime_UTR_variant,,ENST00000331200,;DUT,3_prime_UTR_variant,,ENST00000559540,;DUT,3_prime_UTR_variant,,ENST00000559416,;DUT,downstream_gene_variant,,ENST00000559935,;DUT,downstream_gene_variant,,ENST00000558472,;DUT,downstream_gene_variant,,ENST00000558367,;DUT,downstream_gene_variant,,ENST00000561350,;DUT,3_prime_UTR_variant,,ENST00000558978,;DUT,downstream_gene_variant,,ENST00000559852,;	867	139	145	SUCCESS
P2RX1	5023	.	GRCh37	17	3800978	3800978	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	23	0	ENST00000225538.3:c.*130C>T			ENST00000225538	NM_002558.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11040.1	.	MUTECT|MUSE	.	TTCTGGCAAAC	NONE	.	.	.	.	.	ENSP00000225538	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000225538	Transcript	.	.	ENSG00000108405	8533	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P2RX1_HUMAN	P2RX1	HGNC	Q71UK3_HUMAN,Q6PIW1_HUMAN,K4JYE8_HUMAN,D3DTJ7_HUMAN	.	UPI000000DAAB	SNV	P2RX1,3_prime_UTR_variant,,ENST00000225538,;CAMKK1,upstream_gene_variant,,ENST00000381771,;CAMKK1,upstream_gene_variant,,ENST00000158166,;CAMKK1,upstream_gene_variant,,ENST00000348335,;P2RX1,non_coding_transcript_exon_variant,,ENST00000572418,;CAMKK1,upstream_gene_variant,,ENST00000573483,;	1605	23	13	SUCCESS
ALPK2	115701	.	GRCh37	18	56148994	56148994	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	56	0	ENST00000361673.3:c.*61G>A			ENST00000361673	NM_052947.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11966.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTCAGATT	NONE	.	.	.	.	.	ENSP00000354991	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000361673	Transcript	.	.	ENSG00000198796	20565	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALPK2_HUMAN	ALPK2	HGNC	.	.	UPI000022A768	SNV	ALPK2,3_prime_UTR_variant,,ENST00000361673,;	6788	56	54	SUCCESS
SMIM7	79086	.	GRCh37	19	16757902	16757902	+	splice_donor_5th_base_variant,intron_variant,NMD_transcript_variant	Intron	SNP	C	C	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	31	0	ENST00000481671.2:c.*150+5G>A			ENST00000481671				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12348.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGCACACC	NONE	.	.	.	.	.	ENSP00000417147	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000487416	Transcript	.	.	ENSG00000214046	28419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMIM7_HUMAN	SMIM7	HGNC	M0R2G5_HUMAN,M0R0R3_HUMAN	.	UPI000004A094	SNV	SMIM7,3_prime_UTR_variant,,ENST00000487416,;SMIM7,3_prime_UTR_variant,,ENST00000597711,;CTC-429P9.4,intron_variant,,ENST00000593459,;CTC-429P9.1,downstream_gene_variant,,ENST00000601040,;SMIM7,non_coding_transcript_exon_variant,,ENST00000397349,;CTC-429P9.4,intron_variant,,ENST00000593962,;SMIM7,splice_region_variant,,ENST00000481671,;SMIM7,splice_region_variant,,ENST00000600740,;SMIM7,splice_region_variant,,ENST00000593404,;SMIM7,splice_region_variant,,ENST00000602194,;CTC-429P9.4,splice_region_variant,,ENST00000600705,;SMIM7,splice_region_variant,,ENST00000598278,;CTC-429P9.4,splice_region_variant,,ENST00000595505,;CTC-429P9.4,splice_region_variant,,ENST00000594509,;SMIM7,splice_region_variant,,ENST00000465250,;SMIM7,3_prime_UTR_variant,,ENST00000593409,;SMIM7,3_prime_UTR_variant,,ENST00000487803,;SMIM7,3_prime_UTR_variant,,ENST00000461488,;SMIM7,3_prime_UTR_variant,,ENST00000463051,;CTC-429P9.4,intron_variant,,ENST00000601636,;CTC-429P9.4,intron_variant,,ENST00000593991,;SMIM7,intron_variant,,ENST00000599310,;SMIM7,intron_variant,,ENST00000594662,;SMIM7,intron_variant,,ENST00000597781,;	430	31	72	SUCCESS
VASP	7408	.	GRCh37	19	46032653	46032653	+	downstream_gene_variant	3'Flank	SNP	G	G	C	rs765146461	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	189	12	297	0				ENST00000245932	NM_003370.3	68		0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS33052.1	204	MUTECT|MUSE	.	GGCTTGATGGC	NONE	byFrequency	.	Pfam_domain:PF07047,hmmpanther:PTHR12499,hmmpanther:PTHR12499:SF0	.	.	ENSP00000319817	.	2/2	.	.	.	.	.	.	.	.	rs765146461	2/2	PASS	ENST00000323060	Transcript	1	.	ENSG00000125741	8142	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.776)	.	deleterious(0.01)	.	OPA3_HUMAN	OPA3	HGNC	.	.	UPI0000140FD5	SNV	OPA3,missense_variant,p.Ile68Met,ENST00000323060,;VASP,downstream_gene_variant,,ENST00000245932,;VASP,downstream_gene_variant,,ENST00000587444,;VASP,downstream_gene_variant,,ENST00000588273,;VASP,downstream_gene_variant,,ENST00000588463,;VASP,downstream_gene_variant,,ENST00000586014,;VASP,downstream_gene_variant,,ENST00000588482,;	282	297	201	SUCCESS
CDC42EP5	148170	.	GRCh37	19	54974120	54974120	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	7	116	0				ENST00000301200	NM_145057.2	219		0	.	.	.	.	.	A	C/F	protein_coding	YES	CCDS12895.2	656	MUTECT|MUSE	.	CTGTGCAGAGC	NONE	.	.	hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF39	.	.	ENSP00000331647	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333834	Transcript	.	.	ENSG00000182909	16306	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.003)	.	tolerated(0.7)	.	LENG9_HUMAN	LENG9	HGNC	.	.	UPI000059D7A2	SNV	LENG9,missense_variant,p.Cys219Phe,ENST00000333834,;LENG8,downstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000326764,;LENG8,downstream_gene_variant,,ENST00000376526,;LENG8,downstream_gene_variant,,ENST00000376514,;CDC42EP5,downstream_gene_variant,,ENST00000301200,;LENG8,downstream_gene_variant,,ENST00000431846,;	775	116	79	SUCCESS
ZNF672	79894	.	GRCh37	1	249143084	249143084	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1027322945	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	106	1	ENST00000306562.3:c.*252C>T			ENST00000306562	NM_024836.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1638.1	.	MUTECT|MUSE|VARSCANS	.	GGAGTCAGGGA	NONE	.	.	.	.	.	ENSP00000421915	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000306562	Transcript	.	.	ENSG00000171161	26179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN672_HUMAN	ZNF672	HGNC	D6RH11_HUMAN,D6RD56_HUMAN	.	UPI0000070D6C	SNV	ZNF672,3_prime_UTR_variant,,ENST00000306562,;ZNF692,downstream_gene_variant,,ENST00000427146,;ZNF692,downstream_gene_variant,,ENST00000451251,;ZNF672,downstream_gene_variant,,ENST00000423362,;ZNF672,downstream_gene_variant,,ENST00000428515,;ZNF672,downstream_gene_variant,,ENST00000505503,;ZNF692,downstream_gene_variant,,ENST00000306601,;ZNF692,downstream_gene_variant,,ENST00000366471,;ZNF692,downstream_gene_variant,,ENST00000366469,;ZNF692,downstream_gene_variant,,ENST00000476503,;ZNF672,downstream_gene_variant,,ENST00000510904,;ZNF672,downstream_gene_variant,,ENST00000502697,;ZNF672,downstream_gene_variant,,ENST00000515369,;ZNF692,downstream_gene_variant,,ENST00000477070,;ZNF692,downstream_gene_variant,,ENST00000482023,;ZNF692,downstream_gene_variant,,ENST00000463519,;ZNF692,downstream_gene_variant,,ENST00000474351,;ZNF692,downstream_gene_variant,,ENST00000462037,;ZNF692,downstream_gene_variant,,ENST00000412341,;ZNF692,downstream_gene_variant,,ENST00000470787,;ZNF692,downstream_gene_variant,,ENST00000533927,;	2357	107	67	SUCCESS
PCED1A	64773	.	GRCh37	20	2816070	2816070	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	91	0	ENST00000360652.2:c.*38C>T			ENST00000360652	NM_022760.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13035.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGGGCCA	NONE	.	.	.	.	.	ENSP00000353868	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000360652	Transcript	.	.	ENSG00000132635	16212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PED1A_HUMAN	PCED1A	HGNC	.	.	UPI00001285EE	SNV	PCED1A,3_prime_UTR_variant,,ENST00000474714,;PCED1A,3_prime_UTR_variant,,ENST00000360652,;PCED1A,3_prime_UTR_variant,,ENST00000356872,;PCED1A,downstream_gene_variant,,ENST00000439542,;PCED1A,downstream_gene_variant,,ENST00000448755,;PCED1A,non_coding_transcript_exon_variant,,ENST00000487501,;	1906	91	67	SUCCESS
TUBA3D	113457	.	GRCh37	2	132240468	132240468	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	76	0	ENST00000321253.6:c.*47T>C			ENST00000321253	NM_080386.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33290.1	.	MUTECT|MUSE	.	GCTGCTTCCAA	NONE	.	.	.	.	.	ENSP00000326042	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000321253	Transcript	.	.	ENSG00000075886	24071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TBA3C_HUMAN	TUBA3D	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3D,3_prime_UTR_variant,,ENST00000321253,;MZT2A,downstream_gene_variant,,ENST00000309451,;MZT2A,downstream_gene_variant,,ENST00000410036,;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000488586,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	1507	76	46	SUCCESS
ZNF385B	151126	.	GRCh37	2	180307969	180307969	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	6	86	0	ENST00000410066.1:c.*8A>G			ENST00000410066	NM_152520.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33339.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTTTGCAGA	NONE	.	.	.	.	.	ENSP00000386845	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000410066	Transcript	.	.	ENSG00000144331	26332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z385B_HUMAN	ZNF385B	HGNC	Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN	.	UPI00004F9C24	SNV	ZNF385B,3_prime_UTR_variant,,ENST00000409692,;ZNF385B,3_prime_UTR_variant,,ENST00000409343,;ZNF385B,3_prime_UTR_variant,,ENST00000410066,;ZNF385B,3_prime_UTR_variant,,ENST00000336917,;ZNF385B,downstream_gene_variant,,ENST00000457304,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,downstream_gene_variant,,ENST00000469551,;ZNF385B,downstream_gene_variant,,ENST00000475539,;	2028	86	68	SUCCESS
NRBP1	29959	.	GRCh37	2	27664729	27664729	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	43	0	ENST00000233557.3:c.*50G>A			ENST00000233557				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1753.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACGTGCTGCA	NONE	.	.	.	.	.	ENSP00000233557	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000233557	Transcript	.	.	ENSG00000115216	7993	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NRBP_HUMAN	NRBP1	HGNC	C9JHZ6_HUMAN,C9JDW7_HUMAN	.	UPI0000035B7E	SNV	NRBP1,3_prime_UTR_variant,,ENST00000233557,;NRBP1,3_prime_UTR_variant,,ENST00000379863,;NRBP1,3_prime_UTR_variant,,ENST00000379852,;IFT172,downstream_gene_variant,,ENST00000260570,;KRTCAP3,upstream_gene_variant,,ENST00000543753,;KRTCAP3,upstream_gene_variant,,ENST00000452499,;KRTCAP3,upstream_gene_variant,,ENST00000407293,;KRTCAP3,upstream_gene_variant,,ENST00000288873,;NRBP1,non_coding_transcript_exon_variant,,ENST00000460499,;IFT172,downstream_gene_variant,,ENST00000420854,;NRBP1,downstream_gene_variant,,ENST00000486701,;IFT172,downstream_gene_variant,,ENST00000494163,;KRTCAP3,upstream_gene_variant,,ENST00000453171,;KRTCAP3,upstream_gene_variant,,ENST00000464699,;IFT172,downstream_gene_variant,,ENST00000507184,;IFT172,downstream_gene_variant,,ENST00000480892,;IFT172,downstream_gene_variant,,ENST00000509128,;KRTCAP3,upstream_gene_variant,,ENST00000494572,;IFT172,downstream_gene_variant,,ENST00000479419,;	2490	43	35	SUCCESS
SOCS5	9655	.	GRCh37	2	46988020	46988020	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	17	80	0	ENST00000306503.5:c.*740G>C			ENST00000306503	NM_014011.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1830.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGTGTGT	NONE	.	.	.	.	.	ENSP00000305133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306503	Transcript	.	.	ENSG00000171150	16852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS5_HUMAN	SOCS5	HGNC	B4DL10_HUMAN	.	UPI0000135B69	SNV	SOCS5,3_prime_UTR_variant,,ENST00000394861,;SOCS5,3_prime_UTR_variant,,ENST00000306503,;	2523	80	94	SUCCESS
UBP1	7342	.	GRCh37	3	33431639	33431639	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	46	0	ENST00000283628.5:c.*184A>T			ENST00000283628				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2659.1	.	MUTECT|MUSE	.	ATGCTTGGCTA	NONE	.	.	.	.	.	ENSP00000283629	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000283629	Transcript	.	.	ENSG00000153560	12507	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBIP1_HUMAN	UBP1	HGNC	C9JWL3_HUMAN	.	UPI00000701D7	SNV	UBP1,3_prime_UTR_variant,,ENST00000283628,;UBP1,3_prime_UTR_variant,,ENST00000283629,;UBP1,3_prime_UTR_variant,,ENST00000447368,;FBXL2,downstream_gene_variant,,ENST00000484457,;FBXL2,downstream_gene_variant,,ENST00000538892,;FBXL2,downstream_gene_variant,,ENST00000446237,;FBXL2,downstream_gene_variant,,ENST00000507198,;FBXL2,downstream_gene_variant,,ENST00000542085,;FBXL2,downstream_gene_variant,,ENST00000538181,;FBXL2,intron_variant,,ENST00000463736,;UBP1,downstream_gene_variant,,ENST00000486388,;FBXL2,downstream_gene_variant,,ENST00000283627,;UBP1,non_coding_transcript_exon_variant,,ENST00000492136,;UBP1,non_coding_transcript_exon_variant,,ENST00000466441,;UBP1,downstream_gene_variant,,ENST00000464787,;FBXL2,downstream_gene_variant,,ENST00000432809,;FBXL2,downstream_gene_variant,,ENST00000451636,;FBXL2,downstream_gene_variant,,ENST00000422741,;FBXL2,downstream_gene_variant,,ENST00000464990,;FBXL2,downstream_gene_variant,,ENST00000421391,;FBXL2,downstream_gene_variant,,ENST00000435207,;	2337	46	37	SUCCESS
HARS2	23438	.	GRCh37	5	140078195	140078195	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	39	0	ENST00000230771.3:c.*58T>C			ENST00000230771	NM_012208.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4238.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAATTCCTC	NONE	.	.	.	.	.	ENSP00000230771	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000230771	Transcript	1	.	ENSG00000112855	4817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYHM_HUMAN	HARS2	HGNC	.	.	UPI00001364C4	SNV	HARS2,3_prime_UTR_variant,,ENST00000435019,;HARS2,3_prime_UTR_variant,,ENST00000437649,;HARS2,3_prime_UTR_variant,,ENST00000508522,;HARS2,3_prime_UTR_variant,,ENST00000230771,;HARS2,3_prime_UTR_variant,,ENST00000432671,;HARS2,3_prime_UTR_variant,,ENST00000448069,;HARS2,downstream_gene_variant,,ENST00000509299,;HARS2,downstream_gene_variant,,ENST00000503873,;ZMAT2,upstream_gene_variant,,ENST00000519913,;ZMAT2,upstream_gene_variant,,ENST00000274712,;HARS2,downstream_gene_variant,,ENST00000502303,;HARS2,downstream_gene_variant,,ENST00000506318,;HARS2,downstream_gene_variant,,ENST00000511913,;HARS2,downstream_gene_variant,,ENST00000513688,;HARS2,downstream_gene_variant,,ENST00000520095,;ZMAT2,upstream_gene_variant,,ENST00000506644,;HARS2,downstream_gene_variant,,ENST00000510104,;HARS2,downstream_gene_variant,,ENST00000513912,;	1802	39	58	SUCCESS
PAIP1P1	100421582	.	GRCh37	6	30153577	30153577	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs761690595	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	10	87	0				ENST00000446875				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4678.1	.	MUTECT|MUSE	.	ATCCCGTCCCC	NONE	.	.	.	.	.	ENSP00000410446	.	10/10	.	.	.	.	.	.	.	.	rs761690595	10/10	PASS	ENST00000454678	Transcript	.	.	ENSG00000234127	12962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI26_HUMAN	TRIM26	HGNC	Q5SPU2_HUMAN,A2AE50_HUMAN,A2AE48_HUMAN	.	UPI0000001C20	SNV	TRIM26,3_prime_UTR_variant,,ENST00000454678,;TRIM26,3_prime_UTR_variant,,ENST00000453195,;TRIM26,3_prime_UTR_variant,,ENST00000437089,;TRIM26,non_coding_transcript_exon_variant,,ENST00000480999,;PAIP1P1,downstream_gene_variant,,ENST00000446875,;	2133	87	56	SUCCESS
FAM185A	222234	.	GRCh37	7	102389489	102389489	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	34	0				ENST00000413034	NM_001145268.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47676.1	.	MUTECT|MUSE	.	GGCTGATGTTT	NONE	.	166	.	.	.	ENSP00000395340	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000413034	Transcript	.	.	ENSG00000222011	22412	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F185A_HUMAN	FAM185A	HGNC	F8WFC0_HUMAN,C9JFL0_HUMAN	.	UPI0001AE70BB	SNV	FAM185A,5_prime_UTR_variant,,ENST00000409231,;FAM185A,5_prime_UTR_variant,,ENST00000418198,;FAM185A,upstream_gene_variant,,ENST00000413034,;FAM185A,splice_region_variant,,ENST00000487807,;FAM185A,non_coding_transcript_exon_variant,,ENST00000481697,;FAM185A,upstream_gene_variant,,ENST00000496790,;FAM185A,5_prime_UTR_variant,,ENST00000442873,;FAM185A,5_prime_UTR_variant,,ENST00000420217,;	.	34	28	SUCCESS
ABCB8	11194	.	GRCh37	7	150721195	150721195	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs756173035	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	7	132	1				ENST00000297504	NM_001282291.1	106		0	.	.	.	.	.	C	T/A	protein_coding	YES	.	316	MUTECT|MUSE	.	AGGTGTCATTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038	.	.	ENSP00000475005	.	1/18	.	.	.	.	.	.	.	.	rs756173035	1/18	PASS	ENST00000377974	Transcript	.	.	ENSG00000181652	21899	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.09)	.	.	ATG9B	HGNC	S4R430_HUMAN	.	UPI00015E055A	SNV	ATG9B,missense_variant,p.Thr106Ala,ENST00000605938,;ATG9B,missense_variant,p.Thr106Ala,ENST00000377974,;ATG9B,missense_variant,p.Thr106Ala,ENST00000605952,;ATG9B,5_prime_UTR_variant,,ENST00000444312,;ABCB8,upstream_gene_variant,,ENST00000356058,;ABCB8,upstream_gene_variant,,ENST00000297504,;ABCB8,upstream_gene_variant,,ENST00000498578,;ABCB8,upstream_gene_variant,,ENST00000358849,;ABCB8,upstream_gene_variant,,ENST00000477092,;ABCB8,upstream_gene_variant,,ENST00000461373,;ABCB8,upstream_gene_variant,,ENST00000542328,;ABCB8,upstream_gene_variant,,ENST00000477719,;RP11-148K1.10,downstream_gene_variant,,ENST00000479085,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,intron_variant,,ENST00000466157,;ATG9B,intron_variant,,ENST00000486407,;ABCB8,upstream_gene_variant,,ENST00000469410,;ABCB8,upstream_gene_variant,,ENST00000472698,;ATG9B,upstream_gene_variant,,ENST00000473698,;ABCB8,upstream_gene_variant,,ENST00000488370,;ABCB8,upstream_gene_variant,,ENST00000471796,;ABCB8,upstream_gene_variant,,ENST00000488826,;ABCB8,upstream_gene_variant,,ENST00000466956,;ABCB8,upstream_gene_variant,,ENST00000488551,;ABCB8,upstream_gene_variant,,ENST00000470645,;ABCB8,upstream_gene_variant,,ENST00000466514,;ABCB8,upstream_gene_variant,,ENST00000482309,;ATG9B,upstream_gene_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000489192,;ABCB8,upstream_gene_variant,,ENST00000462605,;	392	133	95	SUCCESS
BBS9	27241	.	GRCh37	7	33644860	33644860	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	11	44	0	ENST00000242067.6:c.*22G>A			ENST00000242067	NM_198428.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43566.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGAGAGG	NONE	.	.	.	.	.	ENSP00000242067	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000242067	Transcript	.	.	ENSG00000122507	30000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTHB1_HUMAN	BBS9	HGNC	C9JRR5_HUMAN,C9JJ08_HUMAN	.	UPI000020ED57	SNV	BBS9,3_prime_UTR_variant,,ENST00000242067,;BBS9,3_prime_UTR_variant,,ENST00000434373,;BBS9,3_prime_UTR_variant,,ENST00000350941,;BBS9,3_prime_UTR_variant,,ENST00000396127,;BBS9,3_prime_UTR_variant,,ENST00000355070,;BBS9,3_prime_UTR_variant,,ENST00000354265,;BBS9,downstream_gene_variant,,ENST00000489708,;BBS9,3_prime_UTR_variant,,ENST00000433714,;BBS9,downstream_gene_variant,,ENST00000498189,;	3207	44	66	SUCCESS
HHLA1	10086	.	GRCh37	8	133076049	133076049	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1586721110	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	14	0	ENST00000414222.1:c.*193G>A			ENST00000414222	NM_001145095.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47919.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTACCTTCA	NONE	.	4422	.	.	.	ENSP00000473802	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000603859	Transcript	.	.	ENSG00000258417	8100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	OC90	Uniprot_gn	.	.	UPI000192B908	SNV	HHLA1,3_prime_UTR_variant,,ENST00000414222,;OC90,intron_variant,,ENST00000262283,;OC90,upstream_gene_variant,,ENST00000603859,;OC90,upstream_gene_variant,,ENST00000254627,;OC90,upstream_gene_variant,,ENST00000443356,;HHLA1,non_coding_transcript_exon_variant,,ENST00000473291,;	.	14	17	SUCCESS
ALDOB	229	.	GRCh37	9	104184045	104184045	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	10	54	0	ENST00000374855.4:c.*46C>T			ENST00000374855	NM_000035.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6756.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAGCCCTC	NONE	.	.	.	.	.	ENSP00000363988	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000374855	Transcript	.	.	ENSG00000136872	417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ALDOB_HUMAN	ALDOB	HGNC	.	.	UPI000016A4A9	SNV	ALDOB,3_prime_UTR_variant,,ENST00000374855,;ALDOB,downstream_gene_variant,,ENST00000468981,;	1266	54	94	SUCCESS
ZCCHC16	0	.	GRCh37	X	111699285	111699285	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	6	47	0	ENST00000340433.2:c.*396G>A			ENST00000340433	NM_001004308.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35369.1	.	MUTECT|MUSE|VARSCANS	.	AATGAGCCCAA	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,3_prime_UTR_variant,,ENST00000340433,;	1559	47	61	SUCCESS
CXorf67	0	.	GRCh37	X	51151614	51151614	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9H3-01	TCGA-2Y-A9H3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	9	54	0	ENST00000342995.2:c.*234A>C			ENST00000342995				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGAGCTGA	NONE	.	.	.	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,3_prime_UTR_variant,,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	1848	54	44	SUCCESS
HCAR2	338442	.	GRCh37	12	123186551	123186551	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	43	0	ENST00000328880.5:c.*188A>G			ENST00000328880	NM_177551.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9235.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGGATTCCTG	NONE	.	.	.	.	.	ENSP00000375066	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328880	Transcript	.	.	ENSG00000182782	24827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HCAR2_HUMAN	HCAR2	HGNC	.	.	UPI000003BCD5	SNV	HCAR2,3_prime_UTR_variant,,ENST00000328880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;	1340	43	36	SUCCESS
SOX1	6656	.	GRCh37	13	112724437	112724437	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1264833035	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	43	140	0	ENST00000330949.1:c.*1289C>A			ENST00000330949	NM_005986.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9523.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACAATCG	NONE	.	.	.	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330949	Transcript	.	.	ENSG00000182968	11189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,3_prime_UTR_variant,,ENST00000330949,;	2525	140	98	SUCCESS
CDKL1	8814	.	GRCh37	14	50864320	50864320	+	upstream_gene_variant	5'Flank	SNP	C	C	G	rs377449007	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	75	0				ENST00000395834	NM_004196.3			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS9699.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCCCGTTCC	NONE	byFrequency|byCluster|by1000G	1703	.	T:0.002	.	ENSP00000379176	T:0	.	.	.	.	.	.	.	.	.	rs377449007	.	PASS	ENST00000395834	Transcript	.	T:0.0098	ENSG00000100490	1781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0481	.	.	CDKL1_HUMAN	CDKL1	HGNC	.	.	UPI000013C6E9	SNV	CDKL1,upstream_gene_variant,,ENST00000216378,;CDKL1,upstream_gene_variant,,ENST00000395834,;RP11-247L20.3,intron_variant,,ENST00000556713,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,upstream_gene_variant,,ENST00000534566,;CDKL1,upstream_gene_variant,,ENST00000530553,;CDKL1,upstream_gene_variant,,ENST00000531052,;	.	75	47	SUCCESS
TNFSF4	7292	.	GRCh37	1	173155601	173155601	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1255591447	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	28	0	ENST00000281834.3:c.*54G>A			ENST00000281834	NM_003326.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1306.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACCCCCA	NONE	.	.	.	.	.	ENSP00000281834	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000281834	Transcript	.	.	ENSG00000117586	11934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNFL4_HUMAN	TNFSF4	HGNC	.	.	UPI00001370A5	SNV	TNFSF4,3_prime_UTR_variant,,ENST00000367718,;TNFSF4,3_prime_UTR_variant,,ENST00000281834,;TNFSF4,downstream_gene_variant,,ENST00000488053,;	743	28	36	SUCCESS
PHLDB2	90102	.	GRCh37	3	111693479	111693479	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	19	0	ENST00000393925.3:c.*69A>G			ENST00000393925	NM_001134439.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46886.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATTCAACCCCA	NONE	.	.	.	.	.	ENSP00000405405	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000431670	Transcript	.	.	ENSG00000144824	29573	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHLB2_HUMAN	PHLDB2	HGNC	Q8NEI7_HUMAN,Q659D2_HUMAN	.	UPI0000457152	SNV	PHLDB2,3_prime_UTR_variant,,ENST00000393923,;PHLDB2,3_prime_UTR_variant,,ENST00000412622,;PHLDB2,3_prime_UTR_variant,,ENST00000481953,;PHLDB2,3_prime_UTR_variant,,ENST00000495180,;PHLDB2,3_prime_UTR_variant,,ENST00000431670,;PHLDB2,3_prime_UTR_variant,,ENST00000393925,;ABHD10,upstream_gene_variant,,ENST00000494817,;ABHD10,upstream_gene_variant,,ENST00000273359,;PHLDB2,downstream_gene_variant,,ENST00000498699,;ABHD10,upstream_gene_variant,,ENST00000534857,;PHLDB2,non_coding_transcript_exon_variant,,ENST00000486886,;ABHD10,upstream_gene_variant,,ENST00000491580,;ABHD10,upstream_gene_variant,,ENST00000497293,;ABHD10,upstream_gene_variant,,ENST00000493784,;	4242	19	15	SUCCESS
NUDT12	83594	.	GRCh37	5	102886505	102886505	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	45	0	ENST00000230792.2:c.*57A>C			ENST00000230792	NM_031438.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4096.1	.	RADIA|MUTECT|MUSE	.	TCACTTGAGGA	NONE	.	.	.	.	.	ENSP00000230792	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,3_prime_UTR_variant,,ENST00000507423,;NUDT12,3_prime_UTR_variant,,ENST00000230792,;NUDT12,downstream_gene_variant,,ENST00000515407,;	1543	45	64	SUCCESS
CD14	929	.	GRCh37	5	140011393	140011393	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	122	39	145	1	ENST00000302014.6:c.*48G>A			ENST00000302014	NM_000591.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4232.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCCCTGA	NONE	.	.	.	.	.	ENSP00000304236	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302014	Transcript	.	.	ENSG00000170458	1628	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD14_HUMAN	CD14	HGNC	E7EVL5_HUMAN,D6RFL4_HUMAN,D6RD81_HUMAN	.	UPI000004A918	SNV	CD14,3_prime_UTR_variant,,ENST00000401743,;CD14,3_prime_UTR_variant,,ENST00000302014,;CD14,downstream_gene_variant,,ENST00000512545,;CD14,downstream_gene_variant,,ENST00000498971,;CD14,downstream_gene_variant,,ENST00000519715,;	1806	146	162	SUCCESS
NPR3	4883	.	GRCh37	5	32789738	32789738	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	164	63	156	1	ENST00000265074.8:c.*3287T>A			ENST00000265074	NM_001204375.1	77		0	.	.	.	.	.	A	L	protein_coding	YES	.	231	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCTTCTAAA	NONE	.	.	.	.	.	ENSP00000318340	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000326958	Transcript	.	.	ENSG00000181495	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC026703.1	Clone_based_ensembl_gene	.	.	UPI0000073BD2	SNV	AC026703.1,synonymous_variant,p.%3D,ENST00000326958,;NPR3,3_prime_UTR_variant,,ENST00000265074,;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415167,;NPR3,downstream_gene_variant,,ENST00000415685,;	794	157	227	SUCCESS
CCDC167	154467	.	GRCh37	6	37450915	37450915	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs780990597	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	169	0	ENST00000373408.3:c.*47G>A			ENST00000373408	NM_138493.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34441.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGATCAAGGG	NONE	byFrequency	.	.	.	.	ENSP00000362507	.	4/4	.	.	.	.	.	.	.	.	rs780990597	4/4	PASS	ENST00000373408	Transcript	.	.	ENSG00000198937	21239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC167_HUMAN	CCDC167	HGNC	.	.	UPI000015D1A3	SNV	CCDC167,3_prime_UTR_variant,,ENST00000373408,;CMTR1,downstream_gene_variant,,ENST00000373451,;CMTR1,downstream_gene_variant,,ENST00000457419,;CMTR1,downstream_gene_variant,,ENST00000475364,;	400	169	114	SUCCESS
CFTR	1080	.	GRCh37	7	117307188	117307188	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	47	131	0	ENST00000003084.6:c.*26A>G			ENST00000003084	NM_000492.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5773.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGACATTT	NONE	.	.	.	.	.	ENSP00000003084	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000003084	Transcript	.	.	ENSG00000001626	1884	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CFTR_HUMAN	CFTR	HGNC	Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN	.	UPI000013C4D4	SNV	CFTR,3_prime_UTR_variant,,ENST00000454343,;CFTR,3_prime_UTR_variant,,ENST00000003084,;CFTR,intron_variant,,ENST00000600166,;CFTR,downstream_gene_variant,,ENST00000426809,;	4601	131	121	SUCCESS
HSF1	3297	.	GRCh37	8	145512865	145512865	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	77	0				ENST00000528838	NM_005526.2	74		0	.	.	.	.	.	T	D/N	protein_coding	YES	CCDS6418.1	220	MUTECT|MUSE	.	GTCATCATCCT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR17605,HAMAP:MF_03027	.	.	ENSP00000304151	.	2/16	.	.	.	.	.	.	.	.	.	2/16	PASS	ENST00000307404	Transcript	.	.	ENSG00000170727	15519	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	possibly_damaging(0.539)	.	tolerated(0.19)	.	BOP1_HUMAN	BOP1	HGNC	Q96Q25_HUMAN,Q6DKJ9_HUMAN,Q4G0D9_HUMAN,E9PRN9_HUMAN	.	UPI0000126A63	SNV	BOP1,start_lost,p.Met1?,ENST00000529231,;BOP1,missense_variant,p.Asp74Asn,ENST00000307404,;BOP1,intron_variant,,ENST00000526552,;HSF1,upstream_gene_variant,,ENST00000528838,;HSF1,upstream_gene_variant,,ENST00000533240,;BOP1,non_coding_transcript_exon_variant,,ENST00000533125,;HSF1,upstream_gene_variant,,ENST00000528988,;	250	77	91	SUCCESS
ELAVL2	1993	.	GRCh37	9	23692401	23692401	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	15	0	ENST00000380117.1:c.*154A>G			ENST00000380117				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6515.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAATAAAAA	NONE	.	.	.	.	.	ENSP00000380479	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000397312	Transcript	.	.	ENSG00000107105	3313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELAV2_HUMAN	ELAVL2	HGNC	C9JB16_HUMAN,B1AM48_HUMAN	.	UPI000013C83F	SNV	ELAVL2,3_prime_UTR_variant,,ENST00000380117,;ELAVL2,3_prime_UTR_variant,,ENST00000380110,;ELAVL2,3_prime_UTR_variant,,ENST00000397312,;ELAVL2,3_prime_UTR_variant,,ENST00000223951,;ELAVL2,3_prime_UTR_variant,,ENST00000544538,;	1509	15	25	SUCCESS
P2RY10	27334	.	GRCh37	X	78217042	78217042	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H4-01	TCGA-2Y-A9H4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	133	134	112	1	ENST00000171757.2:c.*5A>G			ENST00000171757	NM_014499.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14442.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTAAGATA	NONE	.	.	.	.	.	ENSP00000171757	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000171757	Transcript	.	.	ENSG00000078589	19906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2Y10_HUMAN	P2RY10	HGNC	.	.	UPI0000050471	SNV	P2RY10,3_prime_UTR_variant,,ENST00000544091,;P2RY10,3_prime_UTR_variant,,ENST00000171757,;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	1305	113	267	SUCCESS
DCDC1	341019	.	GRCh37	11	31284491	31284491	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	19	0	ENST00000452803.1:c.*119A>T			ENST00000452803	NM_181807.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7872.1	.	MUTECT|MUSE	.	AAGGATGCAAA	NONE	.	.	.	.	.	ENSP00000389792	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000452803	Transcript	.	.	ENSG00000170959	20625	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DCDC1_HUMAN	DCDC1	HGNC	.	.	UPI00001F9F1E	SNV	DCDC1,3_prime_UTR_variant,,ENST00000452803,;DCDC1,intron_variant,,ENST00000597505,;DCDC1,intron_variant,,ENST00000342355,;	1386	19	32	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79590285	79590285	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	3	41	0	ENST00000421388.2:c.*3051C>G			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53965.1	.	MUTECT|MUSE	.	TGGACCTTTGG	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	5128	41	58	SUCCESS
PAFAH2	5051	.	GRCh37	1	26288343	26288343	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	18	0	ENST00000374282.3:c.*137T>C			ENST00000374282	NM_000437.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS270.1	.	MUTECT|MUSE	.	ATCCAAGCAGC	NONE	.	.	.	.	.	ENSP00000363400	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000374282	Transcript	.	.	ENSG00000158006	8579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAFA2_HUMAN	PAFAH2	HGNC	Q5SY01_HUMAN	.	UPI00001311EB	SNV	PAFAH2,3_prime_UTR_variant,,ENST00000374282,;PAFAH2,3_prime_UTR_variant,,ENST00000374284,;RNU6-110P,upstream_gene_variant,,ENST00000384508,;	1496	18	9	SUCCESS
GPX1	2876	.	GRCh37	3	49394686	49394686	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs942299272	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	52	0	ENST00000419783.1:c.*135G>A			ENST00000419783	NM_000581.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43091.1	.	MUTECT|MUSE	.	CAGCACCCATC	NONE	.	.	.	.	.	ENSP00000407375	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000419783	Transcript	.	.	ENSG00000233276	4553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPX1_HUMAN	GPX1	HGNC	Q7L4Q3_HUMAN	.	UPI00001B07C3	SNV	GPX1,3_prime_UTR_variant,,ENST00000419349,;GPX1,3_prime_UTR_variant,,ENST00000419783,;RHOA,downstream_gene_variant,,ENST00000422781,;RHOA,downstream_gene_variant,,ENST00000454011,;RHOA,downstream_gene_variant,,ENST00000418115,;GPX1,downstream_gene_variant,,ENST00000496791,;	1069	52	42	SUCCESS
HYAL2	8692	.	GRCh37	3	50355448	50355448	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	12	82	0	ENST00000357750.4:c.*112del			ENST00000357750	NM_003773.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2818.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTCCTGGGGGC	NONE	.	.	.	.	.	ENSP00000401853	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000447092	Transcript	.	.	ENSG00000068001	5321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HYAL2_HUMAN	HYAL2	HGNC	Q5ZF00_HUMAN,C9K016_HUMAN,C9JSI7_HUMAN,C9JSD1_HUMAN,C9JBF5_HUMAN,C9J700_HUMAN	.	UPI000013C4E6	deletion	HYAL2,3_prime_UTR_variant,,ENST00000442581,;HYAL2,3_prime_UTR_variant,,ENST00000447092,;HYAL2,3_prime_UTR_variant,,ENST00000357750,;HYAL2,3_prime_UTR_variant,,ENST00000395139,;HYAL2,downstream_gene_variant,,ENST00000426286,;HYAL2,downstream_gene_variant,,ENST00000424190,;HYAL2,downstream_gene_variant,,ENST00000458018,;HYAL2,downstream_gene_variant,,ENST00000428028,;HYAL2,downstream_gene_variant,,ENST00000415028,;TUSC2,downstream_gene_variant,,ENST00000462137,;HYAL2,downstream_gene_variant,,ENST00000481597,;	3827	82	88	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73148783	73148783	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	27	0	ENST00000286657.4:c.*70G>A			ENST00000286657	NM_014243.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3553.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGCATATG	NONE	.	.	.	.	.	ENSP00000286657	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,3_prime_UTR_variant,,ENST00000286657,;	3725	27	30	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532812	140532812	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs10074197	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	41	120	0	ENST00000231136.1:c.*589A>T			ENST00000231136	NM_018939.2			0	.	-:0.0287,T:0.062	.	-:0.0029,T:0.0029	.	T	.	protein_coding	YES	CCDS4248.1	.	SOMATICSNIPER|VARSCANS	.	TTTTTAAAAAA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.002,T:0.002	.	ENSP00000231136	-:0.002,T:0	1/1	.	.	.	.	.	.	.	.	rs377133204,rs10074197	1/1	PASS	ENST00000231136	Transcript	.	-:0.0092,T:0.0174	ENSG00000113211	8691	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.002,T:0.001	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,3_prime_UTR_variant,,ENST00000231136,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2974	120	137	SUCCESS
OSTM1	28962	.	GRCh37	6	108365924	108365924	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	55	0	ENST00000193322.3:c.*65G>T			ENST00000193322	NM_014028.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5062.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTCTGAAA	NONE	.	.	.	.	.	ENSP00000193322	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000193322	Transcript	.	.	ENSG00000081087	21652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSTM1_HUMAN	OSTM1	HGNC	E5RFY7_HUMAN	.	UPI00000472C4	SNV	OSTM1,3_prime_UTR_variant,,ENST00000193322,;OSTM1,downstream_gene_variant,,ENST00000440575,;OSTM1,non_coding_transcript_exon_variant,,ENST00000472669,;OSTM1,downstream_gene_variant,,ENST00000477774,;OSTM1,upstream_gene_variant,,ENST00000492130,;	1156	55	86	SUCCESS
C6orf118	168090	.	GRCh37	6	165693392	165693392	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	9	0	ENST00000230301.8:c.*154G>A			ENST00000230301	NM_144980.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5288.1	.	MUTECT|MUSE	.	GTATCCTGAGT	NONE	.	.	.	.	.	ENSP00000230301	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000230301	Transcript	.	.	ENSG00000112539	21233	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CF118_HUMAN	C6orf118	HGNC	.	.	UPI0000367401	SNV	C6orf118,3_prime_UTR_variant,,ENST00000230301,;C6orf118,downstream_gene_variant,,ENST00000543069,;C6orf118,non_coding_transcript_exon_variant,,ENST00000494696,;C6orf118,downstream_gene_variant,,ENST00000491176,;	1585	9	10	SUCCESS
GABBR1	2550	.	GRCh37	6	29571290	29571290	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs552006062	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	99	34	109	0	ENST00000377034.4:c.*30G>T			ENST00000377034	NM_001470.2			0	.	G:0	.	G:0	.	A	.	protein_coding	YES	CCDS4663.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCCCTACT	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000366233	G:0	23/23	.	.	.	.	.	.	.	.	rs552006062	23/23	PASS	ENST00000377034	Transcript	.	G:0.0006	ENSG00000204681	4070	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.0031	.	.	GABR1_HUMAN	GABBR1	HGNC	F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN	.	UPI000004618A	SNV	GABBR1,3_prime_UTR_variant,,ENST00000377016,;GABBR1,3_prime_UTR_variant,,ENST00000376977,;GABBR1,3_prime_UTR_variant,,ENST00000377012,;GABBR1,3_prime_UTR_variant,,ENST00000377034,;GABBR1,intron_variant,,ENST00000355973,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,non_coding_transcript_exon_variant,,ENST00000478931,;GABBR1,downstream_gene_variant,,ENST00000489839,;GABBR1,downstream_gene_variant,,ENST00000494877,;GABBR1,downstream_gene_variant,,ENST00000488334,;GABBR1,downstream_gene_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000473774,;	3252	109	133	SUCCESS
C4B-AS1	106480730	.	GRCh37	6	32008708	32008708	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	31	225	0				ENST00000415626		429		0	.	.	.	.	.	C	C/R	protein_coding	YES	CCDS4735.1	1285	RADIA|MUTECT|VARSCANS	.	GCGTGTGCCTG	NONE	.	.	hmmpanther:PTHR24281:SF2,hmmpanther:PTHR24281,PROSITE_patterns:PS00086,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00463,Prints_domain:PR00385,Prints_domain:PR00385	.	.	ENSP00000408860	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000418967	Transcript	.	.	ENSG00000231852	2600	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(1)	.	deleterious(0)	.	.	CYP21A2	HGNC	Q9UP07_HUMAN,Q7KYP0_HUMAN,Q16874_HUMAN,C6K7H0_HUMAN,B6VE01_HUMAN	.	UPI0000073F52	SNV	CYP21A2,missense_variant,p.Cys429Arg,ENST00000418967,;CYP21A2,missense_variant,p.Cys399Arg,ENST00000435122,;CYP21A2,downstream_gene_variant,,ENST00000478281,;TNXB,downstream_gene_variant,,ENST00000375247,;TNXB,downstream_gene_variant,,ENST00000451343,;CYP21A2,downstream_gene_variant,,ENST00000471671,;TNXB,downstream_gene_variant,,ENST00000375244,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000462278,;TNXB,downstream_gene_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000488465,;TNXB,downstream_gene_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000464325,;	1443	225	192	SUCCESS
ZCCHC16	0	.	GRCh37	X	111699543	111699543	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H5-01	TCGA-2Y-A9H5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	60	117	0	ENST00000340433.2:c.*654T>C			ENST00000340433	NM_001004308.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCTCCTGG	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,3_prime_UTR_variant,,ENST00000340433,;	1817	117	187	SUCCESS
ASCC1	51008	.	GRCh37	10	73857091	73857091	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs755255125	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	39	94	0	ENST00000342444.4:c.*153G>A			ENST00000342444	NM_001198799.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55713.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCACCTCAGG	NONE	.	.	.	.	.	ENSP00000339404	.	13/13	.	.	.	.	.	.	.	.	rs755255125	13/13	PASS	ENST00000342444	Transcript	1	.	ENSG00000138303	24268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASCC1_HUMAN	ASCC1	HGNC	E9PJM2_HUMAN	.	UPI000006F7E9	SNV	ASCC1,3_prime_UTR_variant,,ENST00000394919,;ASCC1,3_prime_UTR_variant,,ENST00000530394,;ASCC1,3_prime_UTR_variant,,ENST00000486689,;ASCC1,3_prime_UTR_variant,,ENST00000545550,;ASCC1,3_prime_UTR_variant,,ENST00000317126,;ASCC1,3_prime_UTR_variant,,ENST00000342444,;ASCC1,3_prime_UTR_variant,,ENST00000317168,;ASCC1,non_coding_transcript_exon_variant,,ENST00000534259,;	1458	94	120	SUCCESS
ING1	3621	.	GRCh37	13	111365281	111365281	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	49	162	0				ENST00000375774	NM_005537.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9517.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGGAGCCG	NONE	.	2048	.	.	.	ENSP00000364929	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000375774	Transcript	.	.	ENSG00000153487	6062	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ING1_HUMAN	ING1	HGNC	.	.	UPI000013DD4A	SNV	ING1,5_prime_UTR_variant,,ENST00000338450,;ING1,upstream_gene_variant,,ENST00000333219,;ING1,upstream_gene_variant,,ENST00000375774,;ING1,upstream_gene_variant,,ENST00000375775,;CARS2,intron_variant,,ENST00000544488,;CARS2,intron_variant,,ENST00000535398,;CARS2,intron_variant,,ENST00000542126,;CARS2,intron_variant,,ENST00000537412,;CARS2,intron_variant,,ENST00000485188,;ING1,upstream_gene_variant,,ENST00000464141,;CARS2,upstream_gene_variant,,ENST00000540629,;	.	162	124	SUCCESS
TRIM13	10206	.	GRCh37	13	50589225	50589260	+	3_prime_UTR_variant	3'UTR	DEL	AAAAAAATATATATATATATATATATATATATATAT	AAAAAAATATATATATATATATATATATATATATAT	-	rs1375067829	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	AAAAAAATATATATATATATATATATATATATATAT	AAAAAAATATATATATATATATATATATATATATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	11	0	ENST00000378182.3:c.*1926_*1961del			ENST00000378182	NM_213590.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41888.1	.	INDELOCATOR|VARSCANI	.	AAAAAAAAAAAAATATATATATATATATATATATATATATATATATA	NONE	.	1909	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	deletion	TRIM13,3_prime_UTR_variant,,ENST00000378182,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,downstream_gene_variant,,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	11	22	SUCCESS
ZADH2	284273	.	GRCh37	18	72913258	72913258	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	20	0	ENST00000322342.3:c.*113A>G			ENST00000322342	NM_175907.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12008.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTTTGTTT	NONE	.	.	.	.	.	ENSP00000323678	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322342	Transcript	.	.	ENSG00000180011	28697	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZADH2_HUMAN	ZADH2	HGNC	J3QQQ7_HUMAN,J3KTQ8_HUMAN,B4DZ91_HUMAN	.	UPI00000350AF	SNV	ZADH2,3_prime_UTR_variant,,ENST00000322342,;ZADH2,3_prime_UTR_variant,,ENST00000537114,;ZADH2,downstream_gene_variant,,ENST00000581620,;ZADH2,downstream_gene_variant,,ENST00000582437,;	1537	20	24	SUCCESS
ZFP36	7538	.	GRCh37	19	39899343	39899343	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	56	0	ENST00000248673.3:c.*4A>G			ENST00000248673	NM_003407.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12534.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAAAGTGAC	NONE	.	.	.	.	.	ENSP00000469647	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597629	Transcript	.	.	ENSG00000128016	12862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZFP36	HGNC	M0QY76_HUMAN	.	UPI000059D71E	SNV	ZFP36,3_prime_UTR_variant,,ENST00000597629,;ZFP36,3_prime_UTR_variant,,ENST00000594442,;ZFP36,3_prime_UTR_variant,,ENST00000248673,;PLEKHG2,upstream_gene_variant,,ENST00000378550,;ZFP36,downstream_gene_variant,,ENST00000600033,;PLEKHG2,upstream_gene_variant,,ENST00000409797,;PLEKHG2,upstream_gene_variant,,ENST00000409794,;PLEKHG2,upstream_gene_variant,,ENST00000458508,;ZFP36,downstream_gene_variant,,ENST00000594045,;PLEKHG2,upstream_gene_variant,,ENST00000425673,;PLEKHG2,upstream_gene_variant,,ENST00000595920,;PLEKHG2,upstream_gene_variant,,ENST00000438123,;MIR4530,downstream_gene_variant,,ENST00000581459,;	1077	56	29	SUCCESS
SRGAP2	23380	.	GRCh37	1	206634912	206634912	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	5	38	0	ENST00000295713.5:c.*147C>T			ENST00000295713				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AAAACCTTGAG	NONE	.	.	.	.	.	ENSP00000295713	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000295713	Transcript	.	.	ENSG00000163486	19751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SRGAP2	HGNC	Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN	.	UPI000059D0A5	SNV	SRGAP2,3_prime_UTR_variant,,ENST00000414007,;SRGAP2,3_prime_UTR_variant,,ENST00000295713,;SRGAP2,downstream_gene_variant,,ENST00000419187,;SRGAP2,downstream_gene_variant,,ENST00000426388,;	3103	38	57	SUCCESS
CYP1B1	1545	.	GRCh37	2	38294210	38294210	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	26	47	0				ENST00000260630	NM_000104.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1792.1	.	RADIA|MUTECT|MUSE	.	AGTCATGACCT	NONE	.	.	.	.	.	ENSP00000234195	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000234195	Transcript	.	.	ENSG00000115841	26567	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RMD2_HUMAN	RMDN2	HGNC	.	.	UPI000013C99A	SNV	RMDN2,3_prime_UTR_variant,,ENST00000234195,;CYP1B1,downstream_gene_variant,,ENST00000407341,;CYP1B1,downstream_gene_variant,,ENST00000260630,;RMDN2-AS1,upstream_gene_variant,,ENST00000601029,;RMDN2,non_coding_transcript_exon_variant,,ENST00000469469,;CYP1B1,non_coding_transcript_exon_variant,,ENST00000491456,;CYP1B1,downstream_gene_variant,,ENST00000492443,;CYP1B1,downstream_gene_variant,,ENST00000462864,;CYP1B1,downstream_gene_variant,,ENST00000494864,;	1915	47	100	SUCCESS
CYP1B1	1545	.	GRCh37	2	38294230	38294230	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	17	38	0				ENST00000260630	NM_000104.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1792.1	.	RADIA|MUTECT|MUSE	.	GAAGTCAAGTA	NONE	.	.	.	.	.	ENSP00000234195	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000234195	Transcript	.	.	ENSG00000115841	26567	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RMD2_HUMAN	RMDN2	HGNC	.	.	UPI000013C99A	SNV	RMDN2,3_prime_UTR_variant,,ENST00000234195,;CYP1B1,downstream_gene_variant,,ENST00000407341,;CYP1B1,downstream_gene_variant,,ENST00000260630,;RMDN2-AS1,upstream_gene_variant,,ENST00000601029,;RMDN2,non_coding_transcript_exon_variant,,ENST00000469469,;CYP1B1,intron_variant,,ENST00000491456,;CYP1B1,downstream_gene_variant,,ENST00000492443,;CYP1B1,downstream_gene_variant,,ENST00000462864,;CYP1B1,downstream_gene_variant,,ENST00000494864,;	1935	38	76	SUCCESS
C2	717	.	GRCh37	6	31914168	31914168	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	54	107	0				ENST00000299367	NM_000063.4	28		0	.	.	.	.	.	T	W/L	protein_coding	YES	.	1589	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGGTCTT	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Gene3D:2.40.10.10,SMART_domains:SM00020	.	.	ENSP00000410815	.	14/30	.	.	.	.	.	.	.	.	.	14/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(1)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Trp530Leu,ENST00000456570,;CFB,missense_variant,p.Trp530Leu,ENST00000556679,;CFB,missense_variant,p.Trp28Leu,ENST00000425368,;CFB,missense_variant,p.Trp28Leu,ENST00000475617,;CFB,intron_variant,,ENST00000477310,;CFB,upstream_gene_variant,,ENST00000483004,;C2,downstream_gene_variant,,ENST00000469372,;C2,downstream_gene_variant,,ENST00000442278,;C2,downstream_gene_variant,,ENST00000299367,;C2,downstream_gene_variant,,ENST00000497706,;C2,downstream_gene_variant,,ENST00000383177,;C2,downstream_gene_variant,,ENST00000452323,;CFB,upstream_gene_variant,,ENST00000497841,;C2,downstream_gene_variant,,ENST00000468407,;CFB,non_coding_transcript_exon_variant,,ENST00000452035,;CFB,non_coding_transcript_exon_variant,,ENST00000472581,;CFB,intron_variant,,ENST00000460718,;C2,downstream_gene_variant,,ENST00000486124,;CFB,upstream_gene_variant,,ENST00000482312,;CFB,upstream_gene_variant,,ENST00000465750,;CFB,upstream_gene_variant,,ENST00000482886,;C2,downstream_gene_variant,,ENST00000482060,;CFB,upstream_gene_variant,,ENST00000467360,;CFB,upstream_gene_variant,,ENST00000467150,;CFB,upstream_gene_variant,,ENST00000461483,;C2,downstream_gene_variant,,ENST00000485690,;	1644	107	140	SUCCESS
COL9A1	1297	.	GRCh37	6	70926498	70926498	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	5	46	0	ENST00000357250.6:c.*102A>G			ENST00000357250	NM_001851.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4971.1	.	MUTECT|MUSE	.	AATCATGCTGA	NONE	.	.	.	.	.	ENSP00000349790	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000357250	Transcript	.	.	ENSG00000112280	2217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO9A1_HUMAN	COL9A1	HGNC	.	.	UPI000020D14B	SNV	COL9A1,3_prime_UTR_variant,,ENST00000370499,;COL9A1,3_prime_UTR_variant,,ENST00000320755,;COL9A1,3_prime_UTR_variant,,ENST00000357250,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,non_coding_transcript_exon_variant,,ENST00000486080,;	3027	46	92	SUCCESS
TPD52L3	89882	.	GRCh37	9	6329596	6329596	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9H6-01	TCGA-2Y-A9H6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	86	143	0	ENST00000344545.5:c.*578C>G			ENST00000344545	NM_033516.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34986.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCCATTT	NONE	.	.	.	.	.	ENSP00000341677	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344545	Transcript	.	.	ENSG00000170777	23382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPD55_HUMAN	TPD52L3	HGNC	.	.	UPI0000367601	SNV	TPD52L3,3_prime_UTR_variant,,ENST00000344545,;TPD52L3,intron_variant,,ENST00000314556,;TPD52L3,intron_variant,,ENST00000381428,;	1248	143	171	SUCCESS
FUT4	2526	.	GRCh37	11	94281937	94281937	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	37	91	0	ENST00000358752.2:c.*3045T>C			ENST00000358752	NM_002033.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATTACAA	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	4921	91	102	SUCCESS
SRSF8	10929	.	GRCh37	11	94801921	94801921	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	70	0	ENST00000529911.1:c.*683G>T			ENST00000529911	NM_032102.3			0	.	.	.	.	.	T	.	polymorphic_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGGAAAAC	NONE	.	.	.	.	.	ENSP00000475842	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529911	Transcript	.	.	ENSG00000271885	16988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SRSF8	Clone_based_vega_gene	.	.	.	SNV	SRSF8,3_prime_UTR_variant,,ENST00000529911,;SRSF8,non_coding_transcript_exon_variant,,ENST00000446101,;	1561	70	93	SUCCESS
SDSL	113675	.	GRCh37	12	113876056	113876056	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1290319127	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	12	0	ENST00000345635.4:c.*172C>T			ENST00000345635	NM_138432.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9170.1	.	MUTECT|MUSE	.	AACTCCGGCCA	NONE	.	.	.	.	.	ENSP00000385790	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000403593	Transcript	.	.	ENSG00000139410	30404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SDSL_HUMAN	SDSL	HGNC	F8VZ97_HUMAN,F8VYZ3_HUMAN	.	UPI0000072263	SNV	SDSL,3_prime_UTR_variant,,ENST00000345635,;SDSL,3_prime_UTR_variant,,ENST00000403593,;SDSL,downstream_gene_variant,,ENST00000551760,;SDSL,downstream_gene_variant,,ENST00000553248,;SDSL,downstream_gene_variant,,ENST00000546672,;	1424	12	10	SUCCESS
ASUN	0	.	GRCh37	12	27058314	27058314	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	18	0	ENST00000261191.7:c.*116T>A			ENST00000261191	NM_018164.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8708.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAATGTA	NONE	.	.	.	.	.	ENSP00000261191	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000261191	Transcript	.	.	ENSG00000064102	20174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASUN_HUMAN	ASUN	HGNC	F8VRX9_HUMAN,F5H5W1_HUMAN,F5H457_HUMAN,B4DNK1_HUMAN	.	UPI0000044950	SNV	ASUN,3_prime_UTR_variant,,ENST00000538155,;ASUN,3_prime_UTR_variant,,ENST00000261191,;ASUN,3_prime_UTR_variant,,ENST00000539625,;ASUN,non_coding_transcript_exon_variant,,ENST00000538016,;	2774	18	37	SUCCESS
TRIM13	10206	.	GRCh37	13	50590273	50590273	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	39	95	0	ENST00000378182.3:c.*2973G>C			ENST00000378182	NM_213590.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41888.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGTTCCT	NONE	.	2957	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,3_prime_UTR_variant,,ENST00000378182,;KCNRG,intron_variant,,ENST00000360473,;KCNRG,intron_variant,,ENST00000312942,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,downstream_gene_variant,,ENST00000298772,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	95	107	SUCCESS
AQR	9716	.	GRCh37	15	35148929	35148930	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	33	0	ENST00000156471.5:c.*63dup			ENST00000156471	NM_014691.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42013.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATACAAAAA	NONE	.	.	.	.	.	ENSP00000156471	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000156471	Transcript	.	.	ENSG00000021776	29513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AQR_HUMAN	AQR	HGNC	.	.	UPI00001C1F85	insertion	AQR,3_prime_UTR_variant,,ENST00000156471,;AQR,3_prime_UTR_variant,,ENST00000543879,;AQR,non_coding_transcript_exon_variant,,ENST00000559090,;AQR,downstream_gene_variant,,ENST00000559767,;	4747-4748	33	50	SUCCESS
BTBD2	55643	.	GRCh37	19	1986415	1986415	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs916019496	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	56	0	ENST00000255608.4:c.*72G>C			ENST00000255608	NM_017797.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12078.1	.	MUTECT|MUSE	.	GGGGGCCCCAG	NONE	.	.	.	.	.	ENSP00000255608	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000255608	Transcript	.	.	ENSG00000133243	15504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTBD2_HUMAN	BTBD2	HGNC	Q6NT96_HUMAN	.	UPI0000126B02	SNV	BTBD2,3_prime_UTR_variant,,ENST00000255608,;BTBD2,downstream_gene_variant,,ENST00000587825,;AC005306.3,upstream_gene_variant,,ENST00000587498,;AC005306.3,upstream_gene_variant,,ENST00000588480,;BTBD2,downstream_gene_variant,,ENST00000592082,;BTBD2,non_coding_transcript_exon_variant,,ENST00000592895,;BTBD2,non_coding_transcript_exon_variant,,ENST00000589685,;BTBD2,downstream_gene_variant,,ENST00000589200,;BTBD2,downstream_gene_variant,,ENST00000587225,;	1667	57	49	SUCCESS
ADPRHL2	0	.	GRCh37	1	36559008	36559008	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	71	0	ENST00000373178.4:c.*21G>C			ENST00000373178	NM_017825.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS402.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGCTCTG	NONE	.	.	.	.	.	ENSP00000362273	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373178	Transcript	.	.	ENSG00000116863	21304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHL2_HUMAN	ADPRHL2	HGNC	B7ZAN4_HUMAN,B4DHV5_HUMAN	.	UPI0000039EBB	SNV	ADPRHL2,3_prime_UTR_variant,,ENST00000373178,;COL8A2,downstream_gene_variant,,ENST00000303143,;COL8A2,downstream_gene_variant,,ENST00000481785,;COL8A2,downstream_gene_variant,,ENST00000397799,;	1143	71	37	SUCCESS
CXCR6	10663	.	GRCh37	3	45989339	45989339	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs765322154	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	41	0	ENST00000304552.4:c.*337G>A			ENST00000304552	NM_006564.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2735.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACGGCCAA	NONE	.	24	.	.	.	ENSP00000395704	.	.	.	.	.	.	.	.	.	.	rs765322154	.	PASS	ENST00000458629	Transcript	.	.	ENSG00000172215	16647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCR6_HUMAN	CXCR6	HGNC	A0N0N3_HUMAN	.	UPI0000001635	SNV	CXCR6,3_prime_UTR_variant,,ENST00000304552,;CXCR6,3_prime_UTR_variant,,ENST00000438735,;FYCO1,intron_variant,,ENST00000296137,;FYCO1,intron_variant,,ENST00000433878,;FYCO1,intron_variant,,ENST00000438446,;FYCO1,intron_variant,,ENST00000535325,;CXCR6,downstream_gene_variant,,ENST00000457814,;CXCR6,downstream_gene_variant,,ENST00000458629,;	.	41	51	SUCCESS
PRELID1	27166	.	GRCh37	5	176733976	176733976	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	31	0				ENST00000303204	NM_013237.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4416.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGGAAGGCTCT	NONE	.	230	.	.	.	ENSP00000401867	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439742	Transcript	.	.	ENSG00000213347	14008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAD3_HUMAN	MXD3	HGNC	D6RD21_HUMAN	.	UPI00000437EB	SNV	MXD3,3_prime_UTR_variant,,ENST00000423571,;MXD3,3_prime_UTR_variant,,ENST00000427908,;MXD3,downstream_gene_variant,,ENST00000513063,;RAB24,upstream_gene_variant,,ENST00000303251,;PRELID1,downstream_gene_variant,,ENST00000303204,;MXD3,downstream_gene_variant,,ENST00000439742,;MXD3,downstream_gene_variant,,ENST00000502529,;MXD3,downstream_gene_variant,,ENST00000513169,;PRELID1,downstream_gene_variant,,ENST00000503853,;RAB24,upstream_gene_variant,,ENST00000504395,;PRELID1,downstream_gene_variant,,ENST00000503216,;RAB24,upstream_gene_variant,,ENST00000303270,;RAB24,upstream_gene_variant,,ENST00000393611,;PRELID1,downstream_gene_variant,,ENST00000502670,;MXD3,intron_variant,,ENST00000509339,;MXD3,intron_variant,,ENST00000503473,;RAB24,upstream_gene_variant,,ENST00000393610,;RAB24,upstream_gene_variant,,ENST00000478234,;RAB24,upstream_gene_variant,,ENST00000471466,;PRELID1,downstream_gene_variant,,ENST00000510797,;PRELID1,downstream_gene_variant,,ENST00000504594,;MXD3,downstream_gene_variant,,ENST00000503782,;PRELID1,downstream_gene_variant,,ENST00000511309,;RAB24,upstream_gene_variant,,ENST00000512758,;PRELID1,downstream_gene_variant,,ENST00000510701,;RAB24,upstream_gene_variant,,ENST00000495458,;	.	31	52	SUCCESS
ITGA2	3673	.	GRCh37	5	52386569	52386569	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	30	1	ENST00000296585.5:c.*140C>A			ENST00000296585	NM_002203.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3957.1	.	MUTECT|MUSE	.	AACTGCAGGTC	NONE	.	.	.	.	.	ENSP00000296585	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,3_prime_UTR_variant,,ENST00000296585,;MOCS2,downstream_gene_variant,,ENST00000361377,;CTD-2366F13.2,upstream_gene_variant,,ENST00000606157,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,downstream_gene_variant,,ENST00000510722,;ITGA2,downstream_gene_variant,,ENST00000509960,;ITGA2,downstream_gene_variant,,ENST00000513685,;ITGA2,downstream_gene_variant,,ENST00000509814,;	3829	31	57	SUCCESS
CRISP2	7180	.	GRCh37	6	49660428	49660428	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	34	0	ENST00000339139.4:c.*58G>A			ENST00000339139	NM_001261822.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4928.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTCGCAAT	NONE	.	.	.	.	.	ENSP00000339155	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000339139	Transcript	.	.	ENSG00000124490	12024	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIS2_HUMAN	CRISP2	HGNC	Q5U8Z9_HUMAN	.	UPI000013728C	SNV	CRISP2,3_prime_UTR_variant,,ENST00000339139,;	1027	34	55	SUCCESS
SLC26A4	5172	.	GRCh37	7	107356119	107356119	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	15	0	ENST00000265715.3:c.*228G>T			ENST00000265715	NM_000441.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5746.1	.	MUTECT|MUSE	.	AGCTGGTGTTA	NONE	.	.	.	.	.	ENSP00000265715	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,3_prime_UTR_variant,,ENST00000265715,;SLC26A4,3_prime_UTR_variant,,ENST00000543100,;SLC26A4,3_prime_UTR_variant,,ENST00000541474,;SLC26A4,downstream_gene_variant,,ENST00000544569,;SLC26A4,downstream_gene_variant,,ENST00000492030,;	2795	15	19	SUCCESS
IL2RG	3561	.	GRCh37	X	70327579	70327579	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1427640306	.	TCGA-2Y-A9H7-01	TCGA-2Y-A9H7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	61	143	0	ENST00000374202.2:c.*7A>G			ENST00000374202	NM_000206.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14406.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGATTGGGG	NONE	.	.	.	.	.	ENSP00000363318	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000374202	Transcript	.	.	ENSG00000147168	6010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL2RG_HUMAN	IL2RG	HGNC	Q6LER1_HUMAN,D6RDW9_HUMAN	.	UPI0000000DEA	SNV	IL2RG,3_prime_UTR_variant,,ENST00000482750,;IL2RG,3_prime_UTR_variant,,ENST00000374202,;CXorf65,upstream_gene_variant,,ENST00000374251,;IL2RG,downstream_gene_variant,,ENST00000464642,;IL2RG,downstream_gene_variant,,ENST00000374188,;IL2RG,downstream_gene_variant,,ENST00000473378,;IL2RG,downstream_gene_variant,,ENST00000487883,;FOXO4,downstream_gene_variant,,ENST00000374259,;IL2RG,downstream_gene_variant,,ENST00000456850,;IL2RG,non_coding_transcript_exon_variant,,ENST00000512747,;IL2RG,non_coding_transcript_exon_variant,,ENST00000276110,;CXorf65,upstream_gene_variant,,ENST00000466160,;CXorf65,upstream_gene_variant,,ENST00000483257,;CXorf65,upstream_gene_variant,,ENST00000438526,;	1209	143	81	SUCCESS
ZNF321P	399669	.	GRCh37	19	53431847	53431847	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	13	75	0	ENST00000391777.3:c.*309A>T			ENST00000391777				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56101.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTATGAATT	NONE	.	.	.	.	.	ENSP00000375656	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000391777	Transcript	.	.	ENSG00000221874	13827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN321_HUMAN	ZNF321P	HGNC	.	.	UPI000041A073	SNV	ZNF321P,3_prime_UTR_variant,,ENST00000391777,;ZNF816,3_prime_UTR_variant,,ENST00000549216,;ZNF816,downstream_gene_variant,,ENST00000434371,;CTD-2331H12.7,downstream_gene_variant,,ENST00000594546,;ZNF816-ZNF321P,non_coding_transcript_exon_variant,,ENST00000313956,;ZNF816-ZNF321P,downstream_gene_variant,,ENST00000550843,;	1133	75	83	SUCCESS
MUC1	4582	.	GRCh37	1	155164965	155164966	+	upstream_gene_variant	5'Flank	INS	-	-	CCCGGGC	rs1346005407	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	109	28	92	0				ENST00000368395	NM_001204285.1			0	.	.	.	.	.	CCCGGGC	.	protein_coding	YES	CCDS55640.1	.	INDELOCATOR|VARSCANI	.	CGGGATCCCGG	NONE	.	2259	.	.	.	ENSP00000357380	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368395	Transcript	.	.	ENSG00000185499	7508	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC1	HGNC	Q9UMI8_HUMAN,Q7Z545_HUMAN,Q14877_HUMAN,B1AVQ5_HUMAN	.	UPI0000038A9F	insertion	MUC1,upstream_gene_variant,,ENST00000368393,;MUC1,upstream_gene_variant,,ENST00000457295,;MUC1,upstream_gene_variant,,ENST00000438413,;MUC1,upstream_gene_variant,,ENST00000368389,;THBS3,downstream_gene_variant,,ENST00000541576,;MUC1,upstream_gene_variant,,ENST00000368390,;MUC1,upstream_gene_variant,,ENST00000368396,;MUC1,upstream_gene_variant,,ENST00000337604,;MUC1,upstream_gene_variant,,ENST00000368392,;MUC1,upstream_gene_variant,,ENST00000338684,;MUC1,upstream_gene_variant,,ENST00000368395,;THBS3,downstream_gene_variant,,ENST00000368378,;THBS3,downstream_gene_variant,,ENST00000541990,;MUC1,upstream_gene_variant,,ENST00000368398,;MUC1,upstream_gene_variant,,ENST00000342482,;MUC1,upstream_gene_variant,,ENST00000343256,;THBS3,downstream_gene_variant,,ENST00000457183,;MIR92B,upstream_gene_variant,,ENST00000607575,;RP11-263K19.4,upstream_gene_variant,,ENST00000454348,;RP11-263K19.4,upstream_gene_variant,,ENST00000447623,;RP11-263K19.4,upstream_gene_variant,,ENST00000453136,;RP11-263K19.4,upstream_gene_variant,,ENST00000436772,;THBS3,downstream_gene_variant,,ENST00000465596,;MUC1,upstream_gene_variant,,ENST00000468978,;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000466913,;MUC1,upstream_gene_variant,,ENST00000485118,;MUC1,upstream_gene_variant,,ENST00000498431,;MUC1,upstream_gene_variant,,ENST00000494844,;MUC1,upstream_gene_variant,,ENST00000462215,;MUC1,upstream_gene_variant,,ENST00000471283,;MUC1,upstream_gene_variant,,ENST00000467134,;THBS3,downstream_gene_variant,,ENST00000498500,;THBS3,downstream_gene_variant,,ENST00000469769,;THBS3,downstream_gene_variant,,ENST00000428962,;	.	92	137	SUCCESS
BRINP3	339479	.	GRCh37	1	190067111	190067111	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs377516098	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	32	27	0	ENST00000367462.3:c.*37G>T			ENST00000367462	NM_199051.1			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS1373.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACTCCTT	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000356432	.	8/8	.	.	.	.	.	.	.	.	rs377516098	8/8	PASS	ENST00000367462	Transcript	.	.	ENSG00000162670	22393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRNP3_HUMAN	BRINP3	HGNC	.	.	UPI00001C1D9A	SNV	BRINP3,3_prime_UTR_variant,,ENST00000534846,;BRINP3,3_prime_UTR_variant,,ENST00000367462,;	2570	27	88	SUCCESS
MCOLN2	255231	.	GRCh37	1	85462739	85462739	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	24	0				ENST00000370608	NM_153259.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30762.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGGCGCCGC	NONE	.	116	.	.	.	ENSP00000359640	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370608	Transcript	.	.	ENSG00000153898	13357	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCLN2_HUMAN	MCOLN2	HGNC	G5EA24_HUMAN	.	UPI00001D7674	SNV	MCOLN2,5_prime_UTR_variant,,ENST00000284027,;MCOLN2,upstream_gene_variant,,ENST00000370608,;WDR63,upstream_gene_variant,,ENST00000370596,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531874,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531325,;MCOLN2,5_prime_UTR_variant,,ENST00000463065,;	.	24	18	SUCCESS
DIRC1	116093	.	GRCh37	2	189599195	189599195	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	24	0	ENST00000308100.4:c.*138T>G			ENST00000308100	NM_052952.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2296.1	.	MUTECT|MUSE	.	AGAACAGTTAA	NONE	.	.	.	.	.	ENSP00000307860	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000308100	Transcript	.	.	ENSG00000174325	15760	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DIRC1_HUMAN	DIRC1	HGNC	.	.	UPI000006FA16	SNV	DIRC1,3_prime_UTR_variant,,ENST00000308100,;AC079613.1,intron_variant,,ENST00000431708,;	724	24	42	SUCCESS
BRK1	55845	.	GRCh37	3	10168120	10168120	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1245286766	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	42	0	ENST00000530758.1:c.*141C>T			ENST00000530758	NM_018462.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54553.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCCTTTGG	NONE	.	.	.	.	.	ENSP00000432472	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000530758	Transcript	.	.	ENSG00000254999	23057	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRK1_HUMAN	BRK1	HGNC	.	.	UPI0000049C9A	SNV	BRK1,3_prime_UTR_variant,,ENST00000256463,;BRK1,3_prime_UTR_variant,,ENST00000530758,;	479	42	47	SUCCESS
C4orf21	0	.	GRCh37	4	113527240	113527240	+	downstream_gene_variant	3'Flank	SNP	G	G	A	.	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	24	73	0				ENST00000445203		909		0	.	.	.	.	.	A	S/F	protein_coding	YES	CCDS3700.2	2726	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGAAGAG	BUFFER|p.S908F|c.2723C>T|3,BUFFER|p.S908F|c.2723C>T|3	.	.	hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	.	.	ENSP00000424737	.	9/28	.	.	.	.	.	.	.	.	COSM168074,COSM168075	9/28	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	possibly_damaging(0.648)	.	deleterious(0)	1,1	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,missense_variant,p.Ser909Phe,ENST00000309071,;C4orf21,missense_variant,p.Ser909Phe,ENST00000505019,;C4orf21,downstream_gene_variant,,ENST00000445203,;C4orf21,missense_variant,p.Ser909Phe,ENST00000473015,;C4orf21,non_coding_transcript_exon_variant,,ENST00000264370,;C4orf21,downstream_gene_variant,,ENST00000514770,;	2852	73	78	SUCCESS
ADRA2C	152	.	GRCh37	4	3769802	3769803	+	3_prime_UTR_variant	3'UTR	INS	-	-	TCCCAGAGACCCGGGGAGCTC	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	31	0	ENST00000330055.5:c.*80_*81insTCCCAGAGACCCGGGGAGCTC			ENST00000330055	NM_000683.3			0	.	.	.	.	.	TCCCAGAGACCCGGGGAGCTC	.	protein_coding	YES	CCDS47004.1	.	VARSCANI*|PINDEL	.	TTTCCCAGAGA	NONE	.	.	.	.	.	ENSP00000386069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330055	Transcript	.	.	ENSG00000184160	283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADA2C_HUMAN	ADRA2C	HGNC	Q4W594_HUMAN	.	UPI000012500C	insertion	ADRA2C,3_prime_UTR_variant,,ENST00000330055,;ADRA2C,intron_variant,,ENST00000509482,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	1678-1679	31	61	SUCCESS
Z95704.4	0	.	GRCh37	4	53239	53239	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	35	0				ENST00000596885				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GAGGGCTTGGT	NONE	.	.	.	.	.	ENSP00000437878	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526473	Transcript	.	.	ENSG00000197701	27196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF595	HGNC	F5H663_HUMAN	.	UPI00020651F4	SNV	ZNF595,5_prime_UTR_variant,,ENST00000526473,;ZNF595,5_prime_UTR_variant,,ENST00000509152,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;ZNF595,non_coding_transcript_exon_variant,,ENST00000507368,;Z95704.4,upstream_gene_variant,,ENST00000596885,;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;Z95704.4,upstream_gene_variant,,ENST00000503774,;	30	35	51	SUCCESS
DFNA5	0	.	GRCh37	7	24738557	24738557	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1016635845	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	56	59	0	ENST00000342947.3:c.*88A>G			ENST00000342947	NM_004403.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5389.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCATTGGTC	NONE	.	.	.	.	.	ENSP00000339587	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000342947	Transcript	.	.	ENSG00000105928	2810	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFNA5_HUMAN	DFNA5	HGNC	.	.	UPI00001291FC	SNV	DFNA5,3_prime_UTR_variant,,ENST00000342947,;DFNA5,3_prime_UTR_variant,,ENST00000545231,;DFNA5,3_prime_UTR_variant,,ENST00000419307,;DFNA5,3_prime_UTR_variant,,ENST00000409970,;DFNA5,downstream_gene_variant,,ENST00000409775,;DFNA5,downstream_gene_variant,,ENST00000430096,;MPP6,downstream_gene_variant,,ENST00000222644,;DFNA5,non_coding_transcript_exon_variant,,ENST00000479636,;	2005	59	106	SUCCESS
RSBN1L	222194	.	GRCh37	7	77408705	77408705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	6	35	0	ENST00000334955.8:c.*220T>A			ENST00000334955	NM_198467.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43607.1	.	MUTECT|MUSE	.	GTCTTTAAAAA	NONE	.	.	.	.	.	ENSP00000334040	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334955	Transcript	.	.	ENSG00000187257	24765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSBNL_HUMAN	RSBN1L	HGNC	C9JM20_HUMAN	.	UPI000020F469	SNV	RSBN1L,3_prime_UTR_variant,,ENST00000334955,;RSBN1L,3_prime_UTR_variant,,ENST00000445288,;RSBN1L,downstream_gene_variant,,ENST00000441514,;RSBN1L,downstream_gene_variant,,ENST00000445512,;	2788	35	70	SUCCESS
PTP4A3	11156	.	GRCh37	8	142446127	142446127	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	14	70	0				ENST00000329397				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6383.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCCCGAA	NONE	.	4733	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,non_coding_transcript_exon_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,synonymous_variant,p.%3D,ENST00000430863,;	.	70	61	SUCCESS
LHFPL1	340596	.	GRCh37	X	111874635	111874635	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H8-01	TCGA-2Y-A9H8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	111	163	0	ENST00000371968.3:c.*13G>A			ENST00000371968	NM_178175.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14562.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATCTTCTT	NONE	.	.	.	.	.	ENSP00000361036	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000371968	Transcript	.	.	ENSG00000182508	6587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHPL1_HUMAN	LHFPL1	HGNC	.	.	UPI00000622AD	SNV	LHFPL1,3_prime_UTR_variant,,ENST00000371968,;LHFPL1,3_prime_UTR_variant,,ENST00000536453,;LHFPL1,non_coding_transcript_exon_variant,,ENST00000478229,;	916	163	182	SUCCESS
VCL	7414	.	GRCh37	10	75878078	75878078	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	18	0	ENST00000211998.4:c.*151A>C			ENST00000211998	NM_014000.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7341.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGAAGACAT	NONE	.	.	.	.	.	ENSP00000211998	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000211998	Transcript	1	.	ENSG00000035403	12665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VINC_HUMAN	VCL	HGNC	Q5JQ13_HUMAN	.	UPI0000167B54	SNV	VCL,3_prime_UTR_variant,,ENST00000436396,;VCL,3_prime_UTR_variant,,ENST00000211998,;VCL,3_prime_UTR_variant,,ENST00000417648,;VCL,3_prime_UTR_variant,,ENST00000372755,;AP3M1,downstream_gene_variant,,ENST00000355264,;AP3M1,downstream_gene_variant,,ENST00000372745,;RP11-178G16.4,downstream_gene_variant,,ENST00000598318,;RP11-178G16.5,upstream_gene_variant,,ENST00000599110,;	3650	18	18	SUCCESS
RNF26	79102	.	GRCh37	11	119207240	119207240	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	18	43	0	ENST00000311413.4:c.*106C>A			ENST00000311413	NM_032015.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8419.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCCTGTG	NONE	.	.	.	.	.	ENSP00000312439	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311413	Transcript	.	.	ENSG00000173456	14646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNF26_HUMAN	RNF26	HGNC	.	.	UPI0000001BF4	SNV	RNF26,3_prime_UTR_variant,,ENST00000311413,;MFRP,downstream_gene_variant,,ENST00000360167,;C1QTNF5,downstream_gene_variant,,ENST00000528368,;MFRP,downstream_gene_variant,,ENST00000449574,;C1QTNF5,downstream_gene_variant,,ENST00000445041,;MFRP,downstream_gene_variant,,ENST00000555262,;RP11-334E6.10,intron_variant,,ENST00000501918,;C1QTNF5,downstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000530681,;	2004	43	54	SUCCESS
TMEM223	79064	.	GRCh37	11	62557956	62557956	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	33	0	ENST00000307366.7:c.*139G>A			ENST00000307366	NM_001080501.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44628.1	.	MUTECT|MUSE	.	TTGCCCAGCCT	NONE	.	.	.	.	.	ENSP00000303987	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307366	Transcript	.	.	ENSG00000168569	28464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM223_HUMAN	TMEM223	HGNC	.	.	UPI00003D0905	SNV	TMEM223,3_prime_UTR_variant,,ENST00000307366,;TMEM223,intron_variant,,ENST00000525631,;TMEM223,intron_variant,,ENST00000528367,;NXF1,downstream_gene_variant,,ENST00000532297,;TMEM179B,downstream_gene_variant,,ENST00000526546,;NXF1,downstream_gene_variant,,ENST00000530875,;TMEM179B,downstream_gene_variant,,ENST00000533861,;TAF6L,downstream_gene_variant,,ENST00000294168,;NXF1,downstream_gene_variant,,ENST00000294172,;NXF1,downstream_gene_variant,,ENST00000527902,;TMEM179B,downstream_gene_variant,,ENST00000333449,;NXF1,downstream_gene_variant,,ENST00000531709,;RP11-727F15.12,upstream_gene_variant,,ENST00000601484,;TMEM223,intron_variant,,ENST00000527073,;NXF1,downstream_gene_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000533440,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533499,;NXF1,downstream_gene_variant,,ENST00000527497,;	775	33	32	SUCCESS
GREM1	26585	.	GRCh37	15	33025164	33025164	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	42	92	0	ENST00000300177.4:c.*1718G>A			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10029.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAGGCTCT	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	2462	92	115	SUCCESS
ISLR	3671	.	GRCh37	15	74468865	74468865	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	35	83	0	ENST00000249842.3:c.*382del			ENST00000249842	NM_005545.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10260.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAGCTGGGGCT	NONE	.	.	.	.	.	ENSP00000249842	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249842	Transcript	.	.	ENSG00000129009	6133	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ISLR_HUMAN	ISLR	HGNC	H0YN67_HUMAN,H0YL90_HUMAN	.	UPI0000049E09	deletion	ISLR,3_prime_UTR_variant,,ENST00000249842,;ISLR,3_prime_UTR_variant,,ENST00000395118,;STRA6,downstream_gene_variant,,ENST00000574278,;STRA6,downstream_gene_variant,,ENST00000323940,;ISLR,downstream_gene_variant,,ENST00000560862,;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000559510,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,;STRA6,downstream_gene_variant,,ENST00000563965,;STRA6,downstream_gene_variant,,ENST00000423167,;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000395105,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	2023	83	112	SUCCESS
TMC7	79905	.	GRCh37	16	19073303	19073303	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	24	0	ENST00000304381.5:c.*138G>A			ENST00000304381	NM_024847.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10573.1	.	MUTECT|MUSE	.	TATGTGCAGCT	NONE	.	.	.	.	.	ENSP00000304710	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000304381	Transcript	.	.	ENSG00000170537	23000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMC7_HUMAN	TMC7	HGNC	E7ERB6_HUMAN	.	UPI00001AEDAD	SNV	TMC7,3_prime_UTR_variant,,ENST00000421369,;TMC7,3_prime_UTR_variant,,ENST00000304381,;TMC7,downstream_gene_variant,,ENST00000569532,;RP11-626G11.1,upstream_gene_variant,,ENST00000565802,;RP11-626G11.5,downstream_gene_variant,,ENST00000576433,;RP11-626G11.5,downstream_gene_variant,,ENST00000567047,;RP11-626G11.5,downstream_gene_variant,,ENST00000571934,;RP11-626G11.5,downstream_gene_variant,,ENST00000568971,;	2440	24	38	SUCCESS
GRB2	2885	.	GRCh37	17	73316441	73316441	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	138	149	1	ENST00000316804.5:c.*8G>T			ENST00000316804	NM_002086.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11721.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCTTGAC	NONE	.	.	.	.	.	ENSP00000376345	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000392562	Transcript	.	.	ENSG00000177885	4566	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRB2_HUMAN	GRB2	HGNC	J3KT38_HUMAN,B0LPF3_HUMAN	.	UPI000004EF93	SNV	GRB2,3_prime_UTR_variant,,ENST00000316804,;GRB2,3_prime_UTR_variant,,ENST00000578961,;GRB2,3_prime_UTR_variant,,ENST00000316615,;GRB2,3_prime_UTR_variant,,ENST00000392562,;GRB2,3_prime_UTR_variant,,ENST00000392564,;GRB2,3_prime_UTR_variant,,ENST00000392563,;GRB2,intron_variant,,ENST00000581959,;GRB2,downstream_gene_variant,,ENST00000582582,;GRB2,non_coding_transcript_exon_variant,,ENST00000462266,;AC011933.1,upstream_gene_variant,,ENST00000535682,;	1445	150	226	SUCCESS
CD1A	909	.	GRCh37	1	158227517	158227517	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	33	56	1	ENST00000289429.5:c.*37T>C			ENST00000289429	NM_001763.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1174.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTGGGGT	NONE	.	.	.	.	.	ENSP00000289429	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000289429	Transcript	.	.	ENSG00000158477	1634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD1A_HUMAN	CD1A	HGNC	.	.	UPI0000161A54	SNV	CD1A,3_prime_UTR_variant,,ENST00000289429,;	1554	57	137	SUCCESS
SLC9C2	284525	.	GRCh37	1	173469925	173469925	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	24	21	0	ENST00000367714.3:c.*308T>C			ENST00000367714	NM_178527.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1308.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTAAAATT	NONE	.	.	.	.	.	ENSP00000356687	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,3_prime_UTR_variant,,ENST00000367714,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	4106	21	39	SUCCESS
FAIM3	0	.	GRCh37	1	207078217	207078217	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	25	0	ENST00000367091.3:c.*147T>C			ENST00000367091	NM_005449.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1473.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACAGATAG	NONE	.	.	.	.	.	ENSP00000356058	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367091	Transcript	.	.	ENSG00000162894	14315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAIM3_HUMAN	FAIM3	HGNC	E9PN59_HUMAN,E9PMT7_HUMAN	.	UPI0000070F7A	SNV	FAIM3,3_prime_UTR_variant,,ENST00000442471,;FAIM3,3_prime_UTR_variant,,ENST00000367091,;IL24,downstream_gene_variant,,ENST00000367093,;IL24,downstream_gene_variant,,ENST00000480741,;FAIM3,downstream_gene_variant,,ENST00000420007,;IL24,downstream_gene_variant,,ENST00000294984,;IL24,downstream_gene_variant,,ENST00000391929,;FAIM3,non_coding_transcript_exon_variant,,ENST00000528654,;IL24,downstream_gene_variant,,ENST00000491169,;FAIM3,non_coding_transcript_exon_variant,,ENST00000474041,;FAIM3,downstream_gene_variant,,ENST00000463473,;IL24,downstream_gene_variant,,ENST00000367095,;RP11-564A8.4,upstream_gene_variant,,ENST00000446057,;RP11-564A8.8,upstream_gene_variant,,ENST00000604222,;	1464	25	24	SUCCESS
SOX12	6666	.	GRCh37	20	309078	309078	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	5	87	0	ENST00000342665.2:c.*1562C>T			ENST00000342665	NM_006943.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12995.1	.	MUTECT|MUSE	.	CTCTGCCCCAC	NONE	.	.	.	.	.	ENSP00000347646	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342665	Transcript	.	.	ENSG00000177732	11198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX12_HUMAN	SOX12	HGNC	.	.	UPI0000167B9D	SNV	SOX12,3_prime_UTR_variant,,ENST00000544632,;SOX12,3_prime_UTR_variant,,ENST00000342665,;RP5-1103G7.4,intron_variant,,ENST00000442637,;RP5-1103G7.4,upstream_gene_variant,,ENST00000414676,;	2840	87	117	SUCCESS
POTEH	23784	.	GRCh37	22	16256627	16256627	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	652	47	651	0	ENST00000343518.6:c.*52G>T			ENST00000343518	NM_001136213.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46658.1	.	MUTECT|MUSE	.	TGCAACGTACT	NONE	.	.	.	.	.	ENSP00000340610	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,3_prime_UTR_variant,,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;LA16c-3G11.7,upstream_gene_variant,,ENST00000339523,;	1742	651	699	SUCCESS
MARCO	8685	.	GRCh37	2	119752126	119752126	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs761953094	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	27	0	ENST00000327097.4:c.*30G>T			ENST00000327097	NM_006770.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2124.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGAGGTG	NONE	.	.	.	.	.	ENSP00000318916	.	17/17	.	.	.	.	.	.	.	.	rs761953094	17/17	PASS	ENST00000327097	Transcript	.	.	ENSG00000019169	6895	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MARCO_HUMAN	MARCO	HGNC	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN	.	UPI0000000DF8	SNV	MARCO,3_prime_UTR_variant,,ENST00000327097,;MARCO,3_prime_UTR_variant,,ENST00000541757,;MARCO,non_coding_transcript_exon_variant,,ENST00000494979,;	1728	27	32	SUCCESS
GALNT5	11227	.	GRCh37	2	158167914	158167914	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	27	0	ENST00000259056.4:c.*54C>A			ENST00000259056	NM_014568.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2203.1	.	MUTECT|MUSE	.	TAACACTGAAC	NONE	.	.	.	.	.	ENSP00000259056	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000259056	Transcript	.	.	ENSG00000136542	4127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GALT5_HUMAN	GALNT5	HGNC	Q68VJ5_HUMAN	.	UPI000019AD19	SNV	GALNT5,3_prime_UTR_variant,,ENST00000259056,;	3362	27	40	SUCCESS
C2orf43	0	.	GRCh37	2	20885187	20885187	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	11	0	ENST00000237822.3:c.*1476A>G			ENST00000237822	NM_021925.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1702.1	.	RADIA|MUTECT|MUSE	.	ATCTATTAGCT	NONE	.	.	.	.	.	ENSP00000237822	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000237822	Transcript	.	.	ENSG00000118961	26145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CB043_HUMAN	C2orf43	HGNC	C9JHU6_HUMAN,B7ZA47_HUMAN,B4DU46_HUMAN	.	UPI0000071DAB	SNV	C2orf43,3_prime_UTR_variant,,ENST00000237822,;C2orf43,intron_variant,,ENST00000403006,;C2orf43,intron_variant,,ENST00000381090,;C2orf43,downstream_gene_variant,,ENST00000440866,;C2orf43,downstream_gene_variant,,ENST00000541941,;C2orf43,downstream_gene_variant,,ENST00000435420,;C2orf43,intron_variant,,ENST00000470099,;	2534	11	12	SUCCESS
P2RY1	5028	.	GRCh37	3	152554941	152554941	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	44	91	0	ENST00000305097.3:c.*248A>G			ENST00000305097	NM_002563.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3169.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTACTTTC	NONE	.	.	.	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,3_prime_UTR_variant,,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	2206	91	107	SUCCESS
TLX3	30012	.	GRCh37	5	170738765	170738765	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs774976746	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	24	0	ENST00000296921.5:c.*162G>A			ENST00000296921	NM_021025.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34288.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGGGTAG	NONE	.	.	.	.	.	ENSP00000296921	.	3/3	.	.	.	.	.	.	.	.	rs774976746	3/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,3_prime_UTR_variant,,ENST00000296921,;	1120	24	24	SUCCESS
GNB2	2783	.	GRCh37	7	100276523	100276523	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs371175419	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	27	56	0	ENST00000303210.4:c.*99C>T			ENST00000303210	NM_005273.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS5703.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCGGGCC	NONE	byFrequency|byCluster|by1000G	.	.	T:0.0109	.	ENSP00000305260	T:0	10/10	.	.	.	.	.	.	.	.	rs371175419	10/10	PASS	ENST00000303210	Transcript	.	T:0.0022	ENSG00000172354	4398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	GBB2_HUMAN	GNB2	HGNC	Q6FHM2_HUMAN,E7EP32_HUMAN,C9JZN1_HUMAN,C9JXA5_HUMAN,C9JIS1_HUMAN,B3KPU1_HUMAN	.	UPI0000000934	SNV	GNB2,3_prime_UTR_variant,,ENST00000393926,;GNB2,3_prime_UTR_variant,,ENST00000419828,;GNB2,3_prime_UTR_variant,,ENST00000427895,;GNB2,3_prime_UTR_variant,,ENST00000303210,;GNB2,3_prime_UTR_variant,,ENST00000393924,;GNB2,3_prime_UTR_variant,,ENST00000424361,;GNB2,3_prime_UTR_variant,,ENST00000436220,;GNB2,downstream_gene_variant,,ENST00000431068,;GNB2,downstream_gene_variant,,ENST00000451587,;GIGYF1,downstream_gene_variant,,ENST00000275732,;GNB2,downstream_gene_variant,,ENST00000412215,;GNB2,non_coding_transcript_exon_variant,,ENST00000469287,;GIGYF1,downstream_gene_variant,,ENST00000472105,;GNB2,downstream_gene_variant,,ENST00000480159,;GNB2,downstream_gene_variant,,ENST00000470354,;	1604	56	96	SUCCESS
CHST12	55501	.	GRCh37	7	2473761	2473761	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs55702312	.	TCGA-2Y-A9H9-01	TCGA-2Y-A9H9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	30	0	ENST00000258711.6:c.*242T>C			ENST00000258711	NM_001243794.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5333.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCTCGCCC	NONE	byCluster|by1000G	.	.	.	.	ENSP00000258711	.	2/2	.	.	.	.	.	.	.	.	rs55702312	2/2	PASS	ENST00000258711	Transcript	.	.	ENSG00000136213	17423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTC_HUMAN	CHST12	HGNC	C9J991_HUMAN	.	UPI000004C65C	SNV	CHST12,3_prime_UTR_variant,,ENST00000258711,;CHST12,downstream_gene_variant,,ENST00000432336,;AC004840.9,upstream_gene_variant,,ENST00000313156,;	1622	30	46	SUCCESS
VIM	7431	.	GRCh37	10	17279345	17279345	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	171	79	166	0	ENST00000224237.5:c.*75T>A			ENST00000224237				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCTTTCAA	NONE	.	.	.	.	.	ENSP00000446007	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,3_prime_UTR_variant,,ENST00000544301,;VIM,3_prime_UTR_variant,,ENST00000224237,;VIM,downstream_gene_variant,,ENST00000421459,;RP11-124N14.3,upstream_gene_variant,,ENST00000456355,;VIM,downstream_gene_variant,,ENST00000495528,;VIM,3_prime_UTR_variant,,ENST00000487938,;VIM,3_prime_UTR_variant,,ENST00000469543,;	1889	166	251	SUCCESS
DAOA	267012	.	GRCh37	13	106142480	106142480	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs764939690	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	19	0	ENST00000375936.3:c.*50T>A			ENST00000375936	NM_001161812.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41905.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTCTGGCCA	NONE	.	.	.	.	.	ENSP00000365103	.	4/5	.	.	.	.	.	.	.	.	rs764939690	4/5	PASS	ENST00000375936	Transcript	.	.	ENSG00000182346	21191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DAOA_HUMAN	DAOA	HGNC	.	.	UPI00001B01AA	SNV	DAOA,3_prime_UTR_variant,,ENST00000329625,;DAOA,3_prime_UTR_variant,,ENST00000375936,;DAOA-AS1,intron_variant,,ENST00000448407,;DAOA,3_prime_UTR_variant,,ENST00000601240,;DAOA,3_prime_UTR_variant,,ENST00000595812,;DAOA,3_prime_UTR_variant,,ENST00000471432,;DAOA,3_prime_UTR_variant,,ENST00000600388,;DAOA,3_prime_UTR_variant,,ENST00000559369,;DAOA,3_prime_UTR_variant,,ENST00000473269,;DAOA,3_prime_UTR_variant,,ENST00000488534,;DAOA,3_prime_UTR_variant,,ENST00000489237,;	558	19	43	SUCCESS
SOCS4	122809	.	GRCh37	14	55511489	55511489	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	82	166	0	ENST00000339298.2:c.*407T>C			ENST00000339298				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9722.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATATTTT	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	SNV	SOCS4,3_prime_UTR_variant,,ENST00000339298,;SOCS4,3_prime_UTR_variant,,ENST00000395472,;SOCS4,3_prime_UTR_variant,,ENST00000555846,;	2062	166	214	SUCCESS
PLEKHD1	400224	.	GRCh37	14	69995141	69995141	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs369886384	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	28	0	ENST00000322564.7:c.*5C>T			ENST00000322564	NM_001161498.1			0	T:0.0332	T:0.0151	.	T:0.0029	.	T	.	protein_coding	YES	CCDS53903.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGCGCTCC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000317175	T:0	13/13	.	.	.	.	.	.	.	.	rs369886384	13/13	common_in_exac	ENST00000322564	Transcript	.	T:0.0044	ENSG00000175985	20148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PLHD1_HUMAN	PLEKHD1	HGNC	.	.	UPI0000EE334F	SNV	PLEKHD1,3_prime_UTR_variant,,ENST00000322564,;	1738	28	65	SUCCESS
GREM1	26585	.	GRCh37	15	33024018	33024018	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	111	51	124	0	ENST00000300177.4:c.*572A>T			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGCAAATGT	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	1316	124	163	SUCCESS
PIGB	9488	.	GRCh37	15	55647664	55647664	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	28	77	0	ENST00000164305.5:c.*34A>C			ENST00000164305	NM_004855.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS61641.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGAAATATT	NONE	.	.	.	.	.	ENSP00000164305	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000164305	Transcript	.	.	ENSG00000069943	8959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGB_HUMAN	PIGB	HGNC	F5H1S1_HUMAN	.	UPI0000072A05	SNV	PIGB,3_prime_UTR_variant,,ENST00000164305,;CCPG1,3_prime_UTR_variant,,ENST00000310958,;CCPG1,3_prime_UTR_variant,,ENST00000442196,;PIGB,3_prime_UTR_variant,,ENST00000539642,;CCPG1,intron_variant,,ENST00000564663,;CCPG1,downstream_gene_variant,,ENST00000568543,;CCPG1,downstream_gene_variant,,ENST00000425574,;CCPG1,downstream_gene_variant,,ENST00000569205,;CCPG1,downstream_gene_variant,,ENST00000568592,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;PIGB,downstream_gene_variant,,ENST00000569823,;PIGB,3_prime_UTR_variant,,ENST00000565502,;PIGB,3_prime_UTR_variant,,ENST00000565367,;PIGB,non_coding_transcript_exon_variant,,ENST00000562751,;PIGB,non_coding_transcript_exon_variant,,ENST00000563742,;CCPG1,downstream_gene_variant,,ENST00000568372,;PIGB,downstream_gene_variant,,ENST00000565402,;CCPG1,downstream_gene_variant,,ENST00000568808,;	1990	77	85	SUCCESS
CLK3	1198	.	GRCh37	15	74922375	74922375	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1438494505	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	20	0	ENST00000395066.3:c.*151G>A			ENST00000395066	NM_001130028.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45304.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGGTGCCC	NONE	.	.	.	.	.	ENSP00000378505	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000395066	Transcript	.	.	ENSG00000179335	2071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLK3_HUMAN	CLK3	HGNC	H3BVF8_HUMAN,H3BUL5_HUMAN,H3BTW9_HUMAN,H3BRT8_HUMAN,H3BRE4_HUMAN,B3KTV2_HUMAN	.	UPI0001529A1B	SNV	CLK3,3_prime_UTR_variant,,ENST00000352989,;CLK3,3_prime_UTR_variant,,ENST00000395066,;CLK3,3_prime_UTR_variant,,ENST00000345005,;CLK3,3_prime_UTR_variant,,ENST00000348245,;CLK3,intron_variant,,ENST00000563418,;CLK3,downstream_gene_variant,,ENST00000566926,;CLK3,downstream_gene_variant,,ENST00000568139,;EDC3,downstream_gene_variant,,ENST00000315127,;EDC3,downstream_gene_variant,,ENST00000569606,;CLK3,downstream_gene_variant,,ENST00000566126,;CLK3,downstream_gene_variant,,ENST00000564096,;EDC3,downstream_gene_variant,,ENST00000568176,;CLK3,downstream_gene_variant,,ENST00000563842,;CLK3,downstream_gene_variant,,ENST00000563297,;EDC3,downstream_gene_variant,,ENST00000426797,;CLK3,intron_variant,,ENST00000561673,;CLK3,downstream_gene_variant,,ENST00000567805,;CLK3,3_prime_UTR_variant,,ENST00000483723,;CLK3,non_coding_transcript_exon_variant,,ENST00000562078,;CLK3,non_coding_transcript_exon_variant,,ENST00000454830,;CLK3,non_coding_transcript_exon_variant,,ENST00000569406,;CLK3,non_coding_transcript_exon_variant,,ENST00000568232,;EDC3,downstream_gene_variant,,ENST00000565602,;CLK3,downstream_gene_variant,,ENST00000562626,;CLK3,downstream_gene_variant,,ENST00000568605,;CLK3,downstream_gene_variant,,ENST00000569063,;CLK3,downstream_gene_variant,,ENST00000564468,;	2529	20	18	SUCCESS
BAIAP3	8938	.	GRCh37	16	1398634	1398634	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs935723853	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	34	0	ENST00000324385.5:c.*151C>T			ENST00000324385	NM_003933.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10434.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTACCGCCCT	NONE	.	.	.	.	.	ENSP00000324510	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000324385	Transcript	.	.	ENSG00000007516	948	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAIP3_HUMAN	BAIAP3	HGNC	.	.	UPI0000071E58	SNV	BAIAP3,3_prime_UTR_variant,,ENST00000421665,;BAIAP3,3_prime_UTR_variant,,ENST00000568887,;BAIAP3,3_prime_UTR_variant,,ENST00000397488,;BAIAP3,3_prime_UTR_variant,,ENST00000426824,;BAIAP3,3_prime_UTR_variant,,ENST00000562208,;BAIAP3,3_prime_UTR_variant,,ENST00000324385,;BAIAP3,3_prime_UTR_variant,,ENST00000397489,;BAIAP3,intron_variant,,ENST00000566162,;TSR3,downstream_gene_variant,,ENST00000007390,;GNPTG,upstream_gene_variant,,ENST00000529110,;GNPTG,upstream_gene_variant,,ENST00000204679,;BAIAP3,downstream_gene_variant,,ENST00000561793,;BAIAP3,downstream_gene_variant,,ENST00000564213,;BAIAP3,downstream_gene_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000561602,;GNPTG,upstream_gene_variant,,ENST00000527168,;GNPTG,upstream_gene_variant,,ENST00000529957,;GNPTG,upstream_gene_variant,,ENST00000527137,;BAIAP3,downstream_gene_variant,,ENST00000567203,;GNPTG,upstream_gene_variant,,ENST00000526820,;GNPTG,upstream_gene_variant,,ENST00000527876,;GNPTG,upstream_gene_variant,,ENST00000534197,;BAIAP3,downstream_gene_variant,,ENST00000568198,;TSR3,downstream_gene_variant,,ENST00000566296,;	3873	34	20	SUCCESS
APOC4-APOC2	100533990	.	GRCh37	19	45452515	45452515	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	DEL	C	C	-	rs752198029	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	19	39	0	ENST00000585685.1:c.*1103del			ENST00000585685				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12650.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCAGACCCCCC	NONE	byFrequency	.	.	.	.	ENSP00000466775	.	4/4	.	.	.	.	.	.	.	.	rs752198029	4/4	PASS	ENST00000590360	Transcript	1	.	ENSG00000234906	609	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APOC2_HUMAN	APOC2	HGNC	Q6P163_HUMAN	.	UPI0000125C21	deletion	APOC2,3_prime_UTR_variant,,ENST00000590360,;APOC2,3_prime_UTR_variant,,ENST00000592257,;APOC2,3_prime_UTR_variant,,ENST00000591597,;APOC2,3_prime_UTR_variant,,ENST00000585786,;APOC2,3_prime_UTR_variant,,ENST00000252490,;APOC4,3_prime_UTR_variant,,ENST00000419266,;APOC4-APOC2,3_prime_UTR_variant,,ENST00000589057,;APOC4,downstream_gene_variant,,ENST00000591600,;APOC4,downstream_gene_variant,,ENST00000592954,;CTB-129P6.11,downstream_gene_variant,,ENST00000591646,;APOC4-APOC2,3_prime_UTR_variant,,ENST00000585685,;	437	39	66	SUCCESS
KLK3	354	.	GRCh37	19	51363563	51363563	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	10	0	ENST00000326003.2:c.*180C>A			ENST00000326003	NM_001030047.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12807.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTCCTCTC	NONE	.	.	.	.	.	ENSP00000314151	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000326003	Transcript	.	.	ENSG00000142515	6364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLK3_HUMAN	KLK3	HGNC	Q6LDS3_HUMAN,Q546G3_HUMAN	.	UPI0000001C9E	SNV	KLK3,3_prime_UTR_variant,,ENST00000360617,;KLK3,3_prime_UTR_variant,,ENST00000326003,;KLK3,3_prime_UTR_variant,,ENST00000595952,;KLK3,downstream_gene_variant,,ENST00000597483,;KLK3,downstream_gene_variant,,ENST00000597286,;KLK3,downstream_gene_variant,,ENST00000598145,;KLK3,downstream_gene_variant,,ENST00000601503,;KLK2,upstream_gene_variant,,ENST00000593493,;KLK3,downstream_gene_variant,,ENST00000593997,;KLK3,3_prime_UTR_variant,,ENST00000422986,;KLK3,non_coding_transcript_exon_variant,,ENST00000601349,;KLK3,non_coding_transcript_exon_variant,,ENST00000596333,;KLK3,downstream_gene_variant,,ENST00000595151,;KLK3,downstream_gene_variant,,ENST00000596185,;KLK3,downstream_gene_variant,,ENST00000595392,;KLK3,downstream_gene_variant,,ENST00000601812,;	1007	10	27	SUCCESS
KLK11	11012	.	GRCh37	19	51525635	51525635	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	29	0	ENST00000594768.1:c.*166A>G			ENST00000594768	NM_144947.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12818.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTGATTTCGA	NONE	.	.	.	.	.	ENSP00000473047	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000594768	Transcript	.	.	ENSG00000167757	6359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLK11_HUMAN	KLK11	HGNC	M0QZV0_HUMAN,M0QZI8_HUMAN	.	UPI000002ACDC	SNV	KLK11,3_prime_UTR_variant,,ENST00000594768,;KLK11,3_prime_UTR_variant,,ENST00000319720,;KLK11,3_prime_UTR_variant,,ENST00000453757,;KLK11,3_prime_UTR_variant,,ENST00000600362,;KLK11,3_prime_UTR_variant,,ENST00000593681,;KLK10,upstream_gene_variant,,ENST00000391805,;KLK10,upstream_gene_variant,,ENST00000599077,;KLK11,downstream_gene_variant,,ENST00000601671,;KLK10,upstream_gene_variant,,ENST00000309958,;KLK11,downstream_gene_variant,,ENST00000598799,;KLK11,downstream_gene_variant,,ENST00000391804,;KLK10,upstream_gene_variant,,ENST00000358789,;KLK11,downstream_gene_variant,,ENST00000594458,;KLK11,3_prime_UTR_variant,,ENST00000319756,;KLK11,downstream_gene_variant,,ENST00000594827,;KLK10,upstream_gene_variant,,ENST00000601467,;	1201	29	16	SUCCESS
SLC22A15	55356	.	GRCh37	1	116609777	116609777	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	52	0	ENST00000369503.4:c.*48C>T			ENST00000369503	NM_018420.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44198.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCTCTGGCT	NONE	.	.	.	.	.	ENSP00000358515	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369503	Transcript	.	.	ENSG00000163393	20301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AF_HUMAN	SLC22A15	HGNC	B3KWH0_HUMAN	.	UPI000007412F	SNV	SLC22A15,3_prime_UTR_variant,,ENST00000369503,;	1822	52	67	SUCCESS
FBXO2	26232	.	GRCh37	1	11708544	11708544	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	2	11	0	ENST00000354287.4:c.*207G>C			ENST00000354287	NM_012168.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS130.1	.	MUTECT|MUSE	.	CCTCACGGATC	NONE	.	.	.	.	.	ENSP00000346240	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000354287	Transcript	.	.	ENSG00000116661	13581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX2_HUMAN	FBXO2	HGNC	.	.	UPI00000711D1	SNV	FBXO2,3_prime_UTR_variant,,ENST00000354287,;FBXO2,downstream_gene_variant,,ENST00000465901,;FBXO2,downstream_gene_variant,,ENST00000475961,;FBXO2,downstream_gene_variant,,ENST00000471501,;FBXO2,downstream_gene_variant,,ENST00000466919,;	1440	11	8	SUCCESS
RGS21	431704	.	GRCh37	1	192335370	192335370	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	9	18	0	ENST00000417209.2:c.*116A>G			ENST00000417209	NM_001039152.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41448.1	.	MUTECT|MUSE	.	CCCAAACAGAT	NONE	.	.	.	.	.	ENSP00000428343	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000417209	Transcript	.	.	ENSG00000253148	26839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGS21_HUMAN	RGS21	HGNC	.	.	UPI0000682FB1	SNV	RGS21,3_prime_UTR_variant,,ENST00000417209,;	749	18	86	SUCCESS
IL18R1	8809	.	GRCh37	2	103013497	103013497	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	22	0	ENST00000233957.1:c.*151G>A			ENST00000233957	NM_003855.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2060.1	.	MUTECT|MUSE	.	TTGGCGGGAAT	NONE	.	.	.	.	.	ENSP00000387211	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000409599	Transcript	.	.	ENSG00000115604	5988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL18R_HUMAN	IL18R1	HGNC	B7ZKV7_HUMAN	.	UPI000012D871	SNV	IL18R1,3_prime_UTR_variant,,ENST00000409599,;IL18R1,3_prime_UTR_variant,,ENST00000233957,;IL18R1,downstream_gene_variant,,ENST00000410040,;	2133	22	37	SUCCESS
C2orf88	84281	.	GRCh37	2	191067411	191067411	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	214	126	263	0	ENST00000340623.4:c.*2537G>A			ENST00000340623	NM_001042519.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42792.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACTGACTAG	NONE	.	.	.	.	.	ENSP00000345107	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340623	Transcript	.	.	ENSG00000187699	28191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAKA_HUMAN	C2orf88	HGNC	H7BZ15_HUMAN,C9JS57_HUMAN	.	UPI000013D122	SNV	C2orf88,3_prime_UTR_variant,,ENST00000340623,;HIBCH,intron_variant,,ENST00000399855,;HIBCH,downstream_gene_variant,,ENST00000359678,;C2orf88,downstream_gene_variant,,ENST00000409870,;HIBCH,downstream_gene_variant,,ENST00000392332,;C2orf88,downstream_gene_variant,,ENST00000443551,;C2orf88,downstream_gene_variant,,ENST00000450357,;C2orf88,downstream_gene_variant,,ENST00000409545,;HIBCH,downstream_gene_variant,,ENST00000410045,;C2orf88,downstream_gene_variant,,ENST00000396974,;HIBCH,downstream_gene_variant,,ENST00000486981,;C2orf88,downstream_gene_variant,,ENST00000490033,;	3236	263	340	SUCCESS
KCNH8	131096	.	GRCh37	3	19575724	19575724	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	16	0	ENST00000328405.2:c.*133A>T			ENST00000328405	NM_144633.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2632.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGGGAA	NONE	.	.	.	.	.	ENSP00000328813	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000328405	Transcript	.	.	ENSG00000183960	18864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH8_HUMAN	KCNH8	HGNC	.	.	UPI0000167D12	SNV	KCNH8,3_prime_UTR_variant,,ENST00000328405,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	3723	16	42	SUCCESS
PPM1M	132160	.	GRCh37	3	52283465	52283465	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	27	0	ENST00000296487.4:c.*66G>T			ENST00000296487				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46840.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAAGCTTCT	NONE	.	.	.	.	.	ENSP00000387046	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409502	Transcript	.	.	ENSG00000164088	26506	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPM1M_HUMAN	PPM1M	HGNC	.	.	UPI000006FA2C	SNV	PPM1M,3_prime_UTR_variant,,ENST00000296487,;PPM1M,intron_variant,,ENST00000457351,;PPM1M,intron_variant,,ENST00000323588,;PPM1M,intron_variant,,ENST00000409502,;PPM1M,intron_variant,,ENST00000443681,;WDR82,downstream_gene_variant,,ENST00000296490,;PPM1M,downstream_gene_variant,,ENST00000457454,;PPM1M,intron_variant,,ENST00000482724,;PPM1M,intron_variant,,ENST00000467471,;PPM1M,intron_variant,,ENST00000489606,;PPM1M,downstream_gene_variant,,ENST00000472955,;	.	27	31	SUCCESS
PXK	54899	.	GRCh37	3	58410845	58410845	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	59	0	ENST00000356151.2:c.*158T>G			ENST00000356151	NM_017771.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2889.1	.	RADIA|MUTECT|MUSE	.	AGAAATAATTC	NONE	.	.	.	.	.	ENSP00000348472	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000356151	Transcript	.	.	ENSG00000168297	23326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PXK_HUMAN	PXK	HGNC	U3KQS4_HUMAN	.	UPI000004A035	SNV	PXK,3_prime_UTR_variant,,ENST00000463280,;PXK,3_prime_UTR_variant,,ENST00000479241,;PXK,3_prime_UTR_variant,,ENST00000356151,;PXK,3_prime_UTR_variant,,ENST00000383716,;PXK,3_prime_UTR_variant,,ENST00000479134,;PXK,3_prime_UTR_variant,,ENST00000302779,;PXK,3_prime_UTR_variant,,ENST00000493474,;PXK,downstream_gene_variant,,ENST00000536660,;PDHB,downstream_gene_variant,,ENST00000302746,;PXK,downstream_gene_variant,,ENST00000495557,;PXK,downstream_gene_variant,,ENST00000383715,;PXK,downstream_gene_variant,,ENST00000484288,;PDHB,downstream_gene_variant,,ENST00000474765,;PDHB,downstream_gene_variant,,ENST00000383714,;PDHB,downstream_gene_variant,,ENST00000485460,;RP11-802O23.3,upstream_gene_variant,,ENST00000607214,;PDHB,downstream_gene_variant,,ENST00000469364,;PDHB,downstream_gene_variant,,ENST00000479945,;PXK,downstream_gene_variant,,ENST00000468776,;PXK,downstream_gene_variant,,ENST00000477308,;PDHB,downstream_gene_variant,,ENST00000461692,;	2004	59	60	SUCCESS
PXK	54899	.	GRCh37	3	58410862	58410862	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	41	0	ENST00000356151.2:c.*175T>G			ENST00000356151	NM_017771.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2889.1	.	RADIA|MUTECT|MUSE	.	CAGAATAAAGT	NONE	.	.	.	.	.	ENSP00000348472	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000356151	Transcript	.	.	ENSG00000168297	23326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PXK_HUMAN	PXK	HGNC	U3KQS4_HUMAN	.	UPI000004A035	SNV	PXK,3_prime_UTR_variant,,ENST00000463280,;PXK,3_prime_UTR_variant,,ENST00000479241,;PXK,3_prime_UTR_variant,,ENST00000356151,;PXK,3_prime_UTR_variant,,ENST00000383716,;PXK,3_prime_UTR_variant,,ENST00000479134,;PXK,3_prime_UTR_variant,,ENST00000302779,;PXK,3_prime_UTR_variant,,ENST00000493474,;PXK,downstream_gene_variant,,ENST00000536660,;PDHB,downstream_gene_variant,,ENST00000302746,;PXK,downstream_gene_variant,,ENST00000495557,;PXK,downstream_gene_variant,,ENST00000383715,;PXK,downstream_gene_variant,,ENST00000484288,;PDHB,downstream_gene_variant,,ENST00000474765,;PDHB,downstream_gene_variant,,ENST00000383714,;PDHB,downstream_gene_variant,,ENST00000485460,;RP11-802O23.3,upstream_gene_variant,,ENST00000607214,;PDHB,downstream_gene_variant,,ENST00000469364,;PDHB,downstream_gene_variant,,ENST00000479945,;PXK,downstream_gene_variant,,ENST00000468776,;PXK,downstream_gene_variant,,ENST00000477308,;PDHB,downstream_gene_variant,,ENST00000461692,;	2021	41	47	SUCCESS
ETF1	2107	.	GRCh37	5	137843923	137843923	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	37	0	ENST00000360541.5:c.*71G>T			ENST00000360541	NM_004730.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4207.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGATTCCACCA	NONE	.	.	.	.	.	ENSP00000353741	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000360541	Transcript	.	.	ENSG00000120705	3477	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERF1_HUMAN	ETF1	HGNC	Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN	.	UPI00001110CB	SNV	ETF1,3_prime_UTR_variant,,ENST00000503014,;ETF1,3_prime_UTR_variant,,ENST00000360541,;ETF1,3_prime_UTR_variant,,ENST00000499810,;ETF1,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000512198,;ETF1,downstream_gene_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000503183,;	1607	37	50	SUCCESS
SERPINE1	5054	.	GRCh37	7	100780814	100780814	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	43	0	ENST00000223095.4:c.*91T>C			ENST00000223095	NM_000602.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5711.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTCTTTC	NONE	.	.	.	.	.	ENSP00000223095	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000223095	Transcript	.	.	ENSG00000106366	8583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAI1_HUMAN	SERPINE1	HGNC	B7ZAB0_HUMAN,B7Z1D9_HUMAN	.	UPI0000000CAB	SNV	SERPINE1,3_prime_UTR_variant,,ENST00000223095,;SERPINE1,3_prime_UTR_variant,,ENST00000445463,;	1457	43	33	SUCCESS
TMEM215	401498	.	GRCh37	9	32786483	32786483	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9HA-01	TCGA-2Y-A9HA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	58	122	1	ENST00000342743.5:c.*1594C>T			ENST00000342743	NM_212558.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6530.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCATGAT	NONE	.	.	.	.	.	ENSP00000345468	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342743	Transcript	.	.	ENSG00000188133	33816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM215_HUMAN	TMEM215	HGNC	.	.	UPI0000049371	SNV	TMEM215,3_prime_UTR_variant,,ENST00000342743,;	2667	123	153	SUCCESS
CUZD1	50624	.	GRCh37	10	124591746	124591746	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	63	0	ENST00000368904.1:c.*48G>T			ENST00000368904				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7631.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCCTTTGG	NONE	.	.	.	.	.	ENSP00000357900	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000368904	Transcript	.	.	ENSG00000138161	17937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CUZD1_HUMAN	CUZD1	HGNC	.	.	UPI000004C655	SNV	CUZD1,3_prime_UTR_variant,,ENST00000392790,;CUZD1,3_prime_UTR_variant,,ENST00000368904,;CUZD1,3_prime_UTR_variant,,ENST00000545804,;CUZD1,3_prime_UTR_variant,,ENST00000368900,;CUZD1,3_prime_UTR_variant,,ENST00000368901,;CUZD1,3_prime_UTR_variant,,ENST00000338948,;CUZD1,non_coding_transcript_exon_variant,,ENST00000368899,;	2822	63	96	SUCCESS
KRTAP9-9	81870	.	GRCh37	17	39412266	39412266	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	25	125	0	ENST00000394008.1:c.*119G>A			ENST00000394008	NM_030975.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54127.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATGAATTC	NONE	.	.	.	.	.	ENSP00000377576	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394008	Transcript	.	.	ENSG00000198083	16773	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	KRTAP9-9	HGNC	B5MDD6_HUMAN	.	UPI00002264BA	SNV	KRTAP9-9,3_prime_UTR_variant,,ENST00000394008,;	631	125	98	SUCCESS
SERPINB4	6318	.	GRCh37	18	61304866	61304866	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	21	0	ENST00000341074.5:c.*87G>C			ENST00000341074	NM_002974.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11986.1	.	MUTECT|MUSE	.	ATGAGCCAAGA	NONE	.	.	.	.	.	ENSP00000343445	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000341074	Transcript	.	.	ENSG00000206073	10570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPB4_HUMAN	SERPINB4	HGNC	.	.	UPI0000038A1A	SNV	SERPINB4,3_prime_UTR_variant,,ENST00000341074,;SERPINB4,3_prime_UTR_variant,,ENST00000356424,;SERPINB4,downstream_gene_variant,,ENST00000413673,;SERPINB4,downstream_gene_variant,,ENST00000436264,;	1376	21	41	SUCCESS
ECSIT	51295	.	GRCh37	19	11616972	11616972	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	34	0	ENST00000270517.7:c.*27G>C			ENST00000270517	NM_016581.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12262.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GGCCACAGCCC	NONE	.	.	.	.	.	ENSP00000270517	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000270517	Transcript	.	.	ENSG00000130159	29548	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ECSIT_HUMAN	ECSIT	HGNC	K7EPL5_HUMAN,K7EM98_HUMAN,K7EJI1_HUMAN,J3KTF5_HUMAN	.	UPI0000072F31	SNV	ECSIT,3_prime_UTR_variant,,ENST00000252440,;ECSIT,3_prime_UTR_variant,,ENST00000270517,;ECSIT,3_prime_UTR_variant,,ENST00000417981,;ECSIT,3_prime_UTR_variant,,ENST00000588998,;ZNF653,upstream_gene_variant,,ENST00000293771,;ECSIT,downstream_gene_variant,,ENST00000591104,;ECSIT,downstream_gene_variant,,ENST00000592312,;ECSIT,downstream_gene_variant,,ENST00000585318,;ZNF653,upstream_gene_variant,,ENST00000593191,;ECSIT,downstream_gene_variant,,ENST00000591352,;ECSIT,3_prime_UTR_variant,,ENST00000592571,;ECSIT,non_coding_transcript_exon_variant,,ENST00000585898,;ZNF653,upstream_gene_variant,,ENST00000590548,;ECSIT,downstream_gene_variant,,ENST00000593231,;ZNF653,upstream_gene_variant,,ENST00000588541,;CTC-398G3.6,upstream_gene_variant,,ENST00000585656,;	1459	34	14	SUCCESS
ATF5	22809	.	GRCh37	19	50436494	50436494	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	20	0	ENST00000423777.2:c.*145G>T			ENST00000423777	NM_001193646.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12789.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGATCGT	NONE	.	.	.	.	.	ENSP00000396954	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000423777	Transcript	.	.	ENSG00000169136	790	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATF5_HUMAN	ATF5	HGNC	M0R040_HUMAN,M0QZD2_HUMAN	.	UPI000003842F	SNV	ATF5,3_prime_UTR_variant,,ENST00000423777,;ATF5,3_prime_UTR_variant,,ENST00000595125,;ATF5,downstream_gene_variant,,ENST00000597227,;NUP62,upstream_gene_variant,,ENST00000422090,;IL4I1,upstream_gene_variant,,ENST00000597295,;ATF5,downstream_gene_variant,,ENST00000600336,;IL4I1,upstream_gene_variant,,ENST00000596022,;IL4I1,upstream_gene_variant,,ENST00000341114,;NUP62,upstream_gene_variant,,ENST00000599567,;NUP62,upstream_gene_variant,,ENST00000594673,;NUP62,upstream_gene_variant,,ENST00000413454,;NUP62,upstream_gene_variant,,ENST00000597723,;IL4I1,upstream_gene_variant,,ENST00000596011,;NUP62,upstream_gene_variant,,ENST00000596437,;ATF5,downstream_gene_variant,,ENST00000596658,;NUP62,upstream_gene_variant,,ENST00000596217,;NUP62,upstream_gene_variant,,ENST00000599788,;NUP62,upstream_gene_variant,,ENST00000596680,;IL4I1,upstream_gene_variant,,ENST00000595948,;NUP62,upstream_gene_variant,,ENST00000352066,;NUP62,upstream_gene_variant,,ENST00000597029,;NUP62,upstream_gene_variant,,ENST00000593652,;NUP62,upstream_gene_variant,,ENST00000600935,;MIR4751,downstream_gene_variant,,ENST00000578027,;NUP62,upstream_gene_variant,,ENST00000599830,;NUP62,upstream_gene_variant,,ENST00000601665,;NUP62,upstream_gene_variant,,ENST00000595463,;NUP62,upstream_gene_variant,,ENST00000599560,;NUP62,upstream_gene_variant,,ENST00000600583,;NUP62,upstream_gene_variant,,ENST00000597814,;NUP62,upstream_gene_variant,,ENST00000599186,;NUP62,upstream_gene_variant,,ENST00000598301,;CTC-326K19.6,intron_variant,,ENST00000451973,;IL4I1,upstream_gene_variant,,ENST00000601717,;	1371	20	15	SUCCESS
FOXD4L1	200350	.	GRCh37	2	114258512	114258512	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	230	15	431	0	ENST00000306507.5:c.*452C>A			ENST00000306507	NM_012184.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2117.1	.	MUTECT|MUSE	.	CCCTTCTTCAC	NONE	.	.	.	.	.	ENSP00000302756	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306507	Transcript	.	.	ENSG00000184492	18521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FX4L1_HUMAN	FOXD4L1	HGNC	.	.	UPI000012ADD0	SNV	FOXD4L1,3_prime_UTR_variant,,ENST00000306507,;CBWD2,downstream_gene_variant,,ENST00000433343,;CBWD2,downstream_gene_variant,,ENST00000416503,;CBWD2,downstream_gene_variant,,ENST00000259199,;CBWD2,downstream_gene_variant,,ENST00000468417,;CBWD2,downstream_gene_variant,,ENST00000358604,;CBWD2,downstream_gene_variant,,ENST00000479583,;	1852	431	245	SUCCESS
IHH	3549	.	GRCh37	2	219919887	219919887	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	35	215	0	ENST00000295731.6:c.*42C>T			ENST00000295731	NM_002181.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33380.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGACCCA	NONE	.	.	.	.	.	ENSP00000295731	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295731	Transcript	.	.	ENSG00000163501	5956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IHH_HUMAN	IHH	HGNC	Q4ZFW8_HUMAN	.	UPI0000035883	SNV	IHH,3_prime_UTR_variant,,ENST00000295731,;MIR3131,downstream_gene_variant,,ENST00000583592,;	1278	215	117	SUCCESS
ANTXR1	84168	.	GRCh37	2	69475540	69475540	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	14	0	ENST00000303714.4:c.*2923T>C			ENST00000303714	NM_032208.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1892.1	.	MUTECT|MUSE	.	AAATGTACAAA	NONE	.	.	.	.	.	ENSP00000301945	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000303714	Transcript	.	.	ENSG00000169604	21014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANTR1_HUMAN	ANTXR1	HGNC	.	.	UPI0000049806	SNV	ANTXR1,3_prime_UTR_variant,,ENST00000303714,;RP11-85D18.1,downstream_gene_variant,,ENST00000604342,;	4940	14	19	SUCCESS
MDN1	23195	.	GRCh37	6	90353594	90353594	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	13	0	ENST00000369393.3:c.*130G>A			ENST00000369393				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5024.1	.	MUTECT|MUSE	.	GTAGGCTGTAA	NONE	.	.	.	.	.	ENSP00000358400	.	102/102	.	.	.	.	.	.	.	.	.	102/102	PASS	ENST00000369393	Transcript	.	.	ENSG00000112159	18302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDN1_HUMAN	MDN1	HGNC	M0QXR3_HUMAN	.	UPI000013C4B8	SNV	MDN1,3_prime_UTR_variant,,ENST00000369393,;MDN1,3_prime_UTR_variant,,ENST00000428876,;MDN1,intron_variant,,ENST00000487831,;	17037	13	10	SUCCESS
SAMD12	401474	.	GRCh37	8	119209814	119209814	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	30	0	ENST00000409003.4:c.*135del			ENST00000409003	NM_001101676.1			0	.	.	.	.	.	-	.	protein_coding	.	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGGTGCTTTTTT	NONE	.	.	.	.	.	ENSP00000402786	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000453675	Transcript	.	.	ENSG00000177570	31750	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SAMD12	HGNC	.	.	UPI0001F77AF7	deletion	SAMD12,3_prime_UTR_variant,,ENST00000453675,;SAMD12,3_prime_UTR_variant,,ENST00000524796,;SAMD12,3_prime_UTR_variant,,ENST00000409003,;	580	30	48	SUCCESS
FOXD4	2298	.	GRCh37	9	116451	116451	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-2Y-A9HB-01	TCGA-2Y-A9HB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	325	30	584	1	ENST00000382500.2:c.*349C>A			ENST00000382500	NM_207305.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34975.1	.	MUTECT|MUSE|VARSCANS	.	GTGAAGAAGGG	NONE	.	.	.	.	.	ENSP00000371940	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382500	Transcript	.	.	ENSG00000170122	3805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXD4_HUMAN	FOXD4	HGNC	.	.	UPI00001AFF18	SNV	FOXD4,3_prime_UTR_variant,,ENST00000382500,;CBWD1,downstream_gene_variant,,ENST00000382447,;CBWD1,downstream_gene_variant,,ENST00000314367,;CBWD1,downstream_gene_variant,,ENST00000377400,;CBWD1,downstream_gene_variant,,ENST00000356521,;RP11-143M1.4,upstream_gene_variant,,ENST00000416242,;CBWD1,downstream_gene_variant,,ENST00000465014,;CBWD1,downstream_gene_variant,,ENST00000475990,;CBWD1,downstream_gene_variant,,ENST00000487575,;CBWD1,downstream_gene_variant,,ENST00000464198,;CBWD1,downstream_gene_variant,,ENST00000495302,;	1967	585	355	SUCCESS
AFAP1L2	84632	.	GRCh37	10	116164333	116164333	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	21	0				ENST00000304129	NM_001287824.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31286.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCTCCTGG	NONE	.	89	.	.	.	ENSP00000303042	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000304129	Transcript	.	.	ENSG00000169129	25901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF1L2_HUMAN	AFAP1L2	HGNC	.	.	UPI0000071FAF	SNV	AFAP1L2,5_prime_UTR_variant,,ENST00000369271,;AFAP1L2,upstream_gene_variant,,ENST00000419268,;AFAP1L2,upstream_gene_variant,,ENST00000304129,;AFAP1L2,upstream_gene_variant,,ENST00000545353,;AFAP1L2,upstream_gene_variant,,ENST00000483496,;	.	21	15	SUCCESS
DDI1	414301	.	GRCh37	11	103908787	103908787	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs768125903	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	60	113	0	ENST00000302259.3:c.*46C>A			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31660.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCGGCAA	NONE	byFrequency	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	rs768125903	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1480	113	104	SUCCESS
C11orf96	387763	.	GRCh37	11	43964957	43964957	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	22	0				ENST00000339446				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CTCGGACTCCC	NONE	.	134	.	.	.	ENSP00000340667	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339446	Transcript	.	.	ENSG00000187479	38675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK096_HUMAN	C11orf96	HGNC	.	.	UPI0000DD807F	SNV	C11orf96,synonymous_variant,p.%3D,ENST00000528572,;C11orf96,downstream_gene_variant,,ENST00000339446,;RP11-613D13.8,downstream_gene_variant,,ENST00000501541,;RP11-613D13.4,intron_variant,,ENST00000526408,;	.	22	8	SUCCESS
EID3	493861	.	GRCh37	12	104698798	104698798	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	48	103	0	ENST00000527879.1:c.*84T>G			ENST00000527879	NM_001008394.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53822.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTATCTCTT	NONE	.	.	.	.	.	ENSP00000435619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527879	Transcript	.	.	ENSG00000255150	32961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EID3_HUMAN	EID3	HGNC	.	.	UPI000007080F	SNV	EID3,3_prime_UTR_variant,,ENST00000527879,;TXNRD1,intron_variant,,ENST00000526580,;TXNRD1,intron_variant,,ENST00000354940,;TXNRD1,intron_variant,,ENST00000388854,;TXNRD1,intron_variant,,ENST00000529546,;TXNRD1,intron_variant,,ENST00000526691,;TXNRD1,intron_variant,,ENST00000524698,;TXNRD1,intron_variant,,ENST00000526266,;TXNRD1,intron_variant,,ENST00000527335,;TXNRD1,intron_variant,,ENST00000526390,;TXNRD1,intron_variant,,ENST00000429002,;TXNRD1,intron_variant,,ENST00000531691,;TXNRD1,intron_variant,,ENST00000528079,;TXNRD1,intron_variant,,ENST00000397736,;TXNRD1,intron_variant,,ENST00000503506,;TXNRD1,intron_variant,,ENST00000525566,;TXNRD1,intron_variant,,ENST00000529784,;TXNRD1,intron_variant,,ENST00000542918,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,intron_variant,,ENST00000540716,;TXNRD1,intron_variant,,ENST00000378070,;TXNRD1,intron_variant,,ENST00000531689,;TXNRD1,upstream_gene_variant,,ENST00000526950,;TXNRD1,upstream_gene_variant,,ENST00000427956,;TXNRD1,intron_variant,,ENST00000527688,;	1282	103	93	SUCCESS
ARL11	115761	.	GRCh37	13	50205550	50205550	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	35	199	0	ENST00000282026.1:c.*376A>G			ENST00000282026	NM_138450.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATAATAAT	NONE	.	.	.	.	.	ENSP00000282026	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282026	Transcript	.	.	ENSG00000152213	24046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL11_HUMAN	ARL11	HGNC	.	.	UPI0000073EDE	SNV	ARL11,3_prime_UTR_variant,,ENST00000282026,;ARL11,intron_variant,,ENST00000490932,;	1302	199	148	SUCCESS
PGPEP1L	145814	.	GRCh37	15	99511569	99511569	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	24	0	ENST00000378919.6:c.*138C>G			ENST00000378919	NM_001102612.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53977.1	.	MUTECT|MUSE	.	CCTTTGTGATT	NONE	.	.	.	.	.	ENSP00000368199	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378919	Transcript	.	.	ENSG00000183571	27080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PGPIL_HUMAN	PGPEP1L	HGNC	H0YF86_HUMAN	.	UPI00006C1572	SNV	PGPEP1L,3_prime_UTR_variant,,ENST00000378919,;PGPEP1L,3_prime_UTR_variant,,ENST00000535714,;IGF1R,downstream_gene_variant,,ENST00000558762,;IGF1R,downstream_gene_variant,,ENST00000268035,;RP11-654A16.3,intron_variant,,ENST00000559468,;	935	24	18	SUCCESS
IQCK	124152	.	GRCh37	16	19867946	19867958	+	3_prime_UTR_variant	3'UTR	DEL	TCTCTTGTGATTT	TCTCTTGTGATTT	-	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	TCTCTTGTGATTT	TCTCTTGTGATTT	.	.	.	.	.	.	.	.	.	.	.	.	.	39	17	42	0	ENST00000320394.6:c.*76_*88del			ENST00000320394	NM_153208.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10580.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCTCTCTCTTGTGATTTCTTTA	NONE	.	.	.	.	.	ENSP00000324901	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000320394	Transcript	.	.	ENSG00000174628	28556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IQCK_HUMAN	IQCK	HGNC	B4E1V3_HUMAN	.	UPI0000072C5C	deletion	IQCK,3_prime_UTR_variant,,ENST00000541926,;IQCK,3_prime_UTR_variant,,ENST00000320394,;IQCK,3_prime_UTR_variant,,ENST00000433597,;IQCK,intron_variant,,ENST00000568061,;GPRC5B,downstream_gene_variant,,ENST00000300571,;GPRC5B,downstream_gene_variant,,ENST00000537135,;GPRC5B,downstream_gene_variant,,ENST00000569847,;GPRC5B,downstream_gene_variant,,ENST00000569479,;GPRC5B,downstream_gene_variant,,ENST00000535671,;IQCK,non_coding_transcript_exon_variant,,ENST00000562762,;GPRC5B,downstream_gene_variant,,ENST00000569102,;IQCK,3_prime_UTR_variant,,ENST00000564955,;IQCK,3_prime_UTR_variant,,ENST00000308214,;IQCK,3_prime_UTR_variant,,ENST00000561839,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;GPRC5B,downstream_gene_variant,,ENST00000562348,;	1639-1651	42	56	SUCCESS
MRPS23	51649	.	GRCh37	17	55917037	55917037	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	42	0	ENST00000313608.8:c.*107A>G			ENST00000313608	NM_016070.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11598.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATAATACCTT	NONE	.	.	.	.	.	ENSP00000320184	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000313608	Transcript	.	.	ENSG00000181610	14509	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT23_HUMAN	MRPS23	HGNC	.	.	UPI0000073570	SNV	MRPS23,3_prime_UTR_variant,,ENST00000313608,;MRPS23,downstream_gene_variant,,ENST00000579380,;MRPS23,downstream_gene_variant,,ENST00000578444,;RP11-60A24.3,upstream_gene_variant,,ENST00000580960,;	726	42	42	SUCCESS
C19orf80	0	.	GRCh37	19	11352411	11352411	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	65	0	ENST00000252453.8:c.*48C>A			ENST00000252453	NM_018687.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCCACGC	NONE	.	.	.	.	.	ENSP00000252453	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000252453	Transcript	.	.	ENSG00000130173	24933	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BETAT_HUMAN	C19orf80	HGNC	K7EIY2_HUMAN	.	UPI000003F538	SNV	C19orf80,3_prime_UTR_variant,,ENST00000252453,;C19orf80,3_prime_UTR_variant,,ENST00000587543,;C19orf80,3_prime_UTR_variant,,ENST00000591200,;DOCK6,intron_variant,,ENST00000294618,;DOCK6,upstream_gene_variant,,ENST00000590680,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000591750,;	664	65	62	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49973911	49973911	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs945010098	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	18	0	ENST00000293350.4:c.*187T>C			ENST00000293350	NM_153329.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12766.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTTTTTT	NONE	.	.	.	.	.	ENSP00000293350	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,3_prime_UTR_variant,,ENST00000293350,;ALDH16A1,downstream_gene_variant,,ENST00000540132,;FLT3LG,upstream_gene_variant,,ENST00000595510,;ALDH16A1,downstream_gene_variant,,ENST00000455361,;FLT3LG,upstream_gene_variant,,ENST00000600429,;FLT3LG,upstream_gene_variant,,ENST00000597551,;ALDH16A1,downstream_gene_variant,,ENST00000433981,;FLT3LG,upstream_gene_variant,,ENST00000344019,;FLT3LG,upstream_gene_variant,,ENST00000204637,;FLT3LG,upstream_gene_variant,,ENST00000596435,;FLT3LG,upstream_gene_variant,,ENST00000594009,;CTD-3148I10.15,upstream_gene_variant,,ENST00000595815,;CTD-3148I10.9,intron_variant,,ENST00000599536,;FLT3LG,upstream_gene_variant,,ENST00000600084,;ALDH16A1,downstream_gene_variant,,ENST00000594549,;FLT3LG,upstream_gene_variant,,ENST00000601800,;ALDH16A1,downstream_gene_variant,,ENST00000593417,;FLT3LG,upstream_gene_variant,,ENST00000593422,;ALDH16A1,downstream_gene_variant,,ENST00000599652,;ALDH16A1,downstream_gene_variant,,ENST00000600265,;	2759	18	21	SUCCESS
ZNF581	51545	.	GRCh37	19	56156891	56156891	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	59	138	0	ENST00000270451.5:c.*360G>A			ENST00000270451	NM_016535.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12932.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGGGCTTC	NONE	.	.	.	.	.	ENSP00000466047	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000587252	Transcript	.	.	ENSG00000171425	25017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN581_HUMAN	ZNF581	HGNC	K7EM32_HUMAN	.	UPI0000070E84	SNV	ZNF581,3_prime_UTR_variant,,ENST00000588537,;ZNF581,3_prime_UTR_variant,,ENST00000270451,;ZNF581,3_prime_UTR_variant,,ENST00000587252,;CCDC106,intron_variant,,ENST00000592996,;ZNF580,downstream_gene_variant,,ENST00000592881,;ZNF580,downstream_gene_variant,,ENST00000325333,;CCDC106,upstream_gene_variant,,ENST00000591241,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000545125,;ZNF580,downstream_gene_variant,,ENST00000543039,;CCDC106,upstream_gene_variant,,ENST00000308964,;CCDC106,upstream_gene_variant,,ENST00000591578,;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF581,downstream_gene_variant,,ENST00000585995,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000586790,;CCDC106,upstream_gene_variant,,ENST00000593069,;CCDC106,upstream_gene_variant,,ENST00000587213,;CCDC106,upstream_gene_variant,,ENST00000586864,;	1227	138	155	SUCCESS
GRIK1-AS2	100379661	.	GRCh37	21	30971134	30971134	+	intron_variant	Intron	SNP	T	T	C	rs983800008	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	19	47	0	ENST00000333765.4:c.*429+1120T>C			ENST00000333765				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42913.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTATTGTTA	NONE	.	.	.	.	.	ENSP00000382791	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399907	Transcript	.	.	ENSG00000171189	4579	.	.	MODIFIER	8/16	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK1_HUMAN	GRIK1	HGNC	Q9UNN1_HUMAN,Q71UA3_HUMAN	.	UPI000012B612	SNV	GRIK1,intron_variant,,ENST00000327783,;BACH1,intron_variant,,ENST00000468059,;GRIK1,intron_variant,,ENST00000389124,;GRIK1,intron_variant,,ENST00000399914,;GRIK1,intron_variant,,ENST00000535441,;GRIK1,intron_variant,,ENST00000399907,;BACH1,intron_variant,,ENST00000422809,;GRIK1,intron_variant,,ENST00000399909,;GRIK1,intron_variant,,ENST00000399913,;GRIK1-AS2,intron_variant,,ENST00000333765,;GRIK1,intron_variant,,ENST00000309434,;GRIK1,intron_variant,,ENST00000389125,;GRIK1,non_coding_transcript_exon_variant,,ENST00000472429,;BACH1,intron_variant,,ENST00000462262,;	.	47	62	SUCCESS
B3GNT2	10678	.	GRCh37	2	62450678	62450678	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	20	88	0	ENST00000301998.4:c.*129C>T			ENST00000301998	NM_006577.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1870.1	.	RADIA|MUTECT|MUSE	.	GAGGGCCTCTA	NONE	.	.	.	.	.	ENSP00000305595	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000301998	Transcript	.	.	ENSG00000170340	15629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3GN2_HUMAN	B3GNT2	HGNC	.	.	UPI00000009FB	SNV	B3GNT2,3_prime_UTR_variant,,ENST00000405767,;B3GNT2,3_prime_UTR_variant,,ENST00000301998,;	1575	88	76	SUCCESS
PCDHB8	56128	.	GRCh37	5	140563472	140563472	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs782428696	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	39	118	0				ENST00000239444	NM_019120.3	446		0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4251.1	1338	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATAACGC	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	rs782428696	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious_low_confidence(0)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Asp446Glu,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	2493	118	97	SUCCESS
GRM6	2916	.	GRCh37	5	178408583	178408583	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	23	0	ENST00000231188.5:c.*75C>T			ENST00000231188	NM_000843.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4442.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGCTCTA	NONE	.	.	.	.	.	ENSP00000231188	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000231188	Transcript	1	.	ENSG00000113262	4598	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRM6_HUMAN	GRM6	HGNC	.	.	UPI000013C947	SNV	GRM6,3_prime_UTR_variant,,ENST00000231188,;GRM6,downstream_gene_variant,,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,downstream_gene_variant,,ENST00000518082,;GRM6,downstream_gene_variant,,ENST00000519003,;	2888	23	35	SUCCESS
NRF1	4899	.	GRCh37	7	129395150	129395150	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs963338518	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	26	0	ENST00000223190.4:c.*129A>T			ENST00000223190				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5813.2	.	MUTECT|MUSE|VARSCANS	.	TTTTTAAAAGG	NONE	.	.	.	.	.	ENSP00000376924	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000393232	Transcript	.	.	ENSG00000106459	7996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NRF1_HUMAN	NRF1	HGNC	C9JP85_HUMAN,B4DDV6_HUMAN	.	UPI000003BB3B	SNV	NRF1,3_prime_UTR_variant,,ENST00000353868,;NRF1,3_prime_UTR_variant,,ENST00000393232,;NRF1,3_prime_UTR_variant,,ENST00000393230,;NRF1,3_prime_UTR_variant,,ENST00000393231,;NRF1,3_prime_UTR_variant,,ENST00000311967,;NRF1,3_prime_UTR_variant,,ENST00000223190,;NRF1,downstream_gene_variant,,ENST00000539636,;RNA5SP244,upstream_gene_variant,,ENST00000390936,;	1758	26	36	SUCCESS
HOXA7	3204	.	GRCh37	7	27194525	27194525	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	8	75	0	ENST00000242159.3:c.*3G>A			ENST00000242159	NM_006896.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5408.1	.	MUTECT|MUSE	.	TCGGCCCCTCA	NONE	.	.	.	.	.	ENSP00000242159	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242159	Transcript	.	.	ENSG00000122592	5108	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXA7_HUMAN	HOXA7	HGNC	E5RHM9_HUMAN	.	UPI000013CAF3	SNV	HOXA7,3_prime_UTR_variant,,ENST00000242159,;HOXA7,downstream_gene_variant,,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;HOXA7,non_coding_transcript_exon_variant,,ENST00000523796,;HOXA6,upstream_gene_variant,,ENST00000521478,;HOXA3,upstream_gene_variant,,ENST00000518451,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;	830	75	102	SUCCESS
IFNA17	3451	.	GRCh37	9	21227588	21227588	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	26	183	0	ENST00000413767.2:c.*15T>A			ENST00000413767	NM_021268.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6500.1	.	RADIA|MUTECT|MUSE	.	TTGCCATGTTG	NONE	.	.	.	.	.	ENSP00000411940	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000413767	Transcript	.	.	ENSG00000234829	5422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IFN17_HUMAN	IFNA17	HGNC	Q9UMJ2_HUMAN	.	UPI0000052AF9	SNV	IFNA17,3_prime_UTR_variant,,ENST00000413767,;IFNWP5,downstream_gene_variant,,ENST00000445100,;	634	183	184	SUCCESS
SLITRK2	84631	.	GRCh37	X	144911123	144911123	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-3K-AAZ8-01	TCGA-3K-AAZ8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	59	88	0				ENST00000370490				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14681.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAGAGGGT	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;	2196	88	77	SUCCESS
C10orf118	0	.	GRCh37	10	115884765	115884766	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs201498373	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	36	0	ENST00000369287.3:c.*136dup			ENST00000369287	NM_018017.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7587.1	.	INDELOCATOR|VARSCANI	.	AGGGTATTTTT	NONE	by1000G	.	.	.	.	ENSP00000358293	.	16/16	.	.	.	.	.	.	.	.	rs201498373	16/16	PASS	ENST00000369287	Transcript	.	.	ENSG00000165813	24349	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CJ118_HUMAN	C10orf118	HGNC	Q496Y1_HUMAN	.	UPI00001D3EF5	insertion	C10orf118,3_prime_UTR_variant,,ENST00000369287,;C10orf118,3_prime_UTR_variant,,ENST00000543782,;C10orf118,3_prime_UTR_variant,,ENST00000428953,;	3100-3101	36	33	SUCCESS
CCDC172	374355	.	GRCh37	10	118139186	118139186	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	14	0	ENST00000333254.3:c.*316A>G			ENST00000333254	NM_198515.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31291.1	.	MUTECT|MUSE	.	AATCTATATAA	NONE	.	.	.	.	.	ENSP00000329860	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000333254	Transcript	.	.	ENSG00000182645	30524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC172_HUMAN	CCDC172	HGNC	.	.	UPI000000DAB5	SNV	CCDC172,3_prime_UTR_variant,,ENST00000333254,;	1344	14	13	SUCCESS
MMP21	118856	.	GRCh37	10	127455132	127455132	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	32	0	ENST00000368808.3:c.*99A>G			ENST00000368808	NM_147191.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7647.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TACAGTGCCAT	NONE	.	.	.	.	.	ENSP00000357798	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368808	Transcript	.	.	ENSG00000154485	14357	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MMP21_HUMAN	MMP21	HGNC	.	.	UPI000006FDF6	SNV	MMP21,3_prime_UTR_variant,,ENST00000368808,;EDRF1,downstream_gene_variant,,ENST00000356792,;EDRF1,downstream_gene_variant,,ENST00000337623,;EDRF1,downstream_gene_variant,,ENST00000368815,;EDRF1,downstream_gene_variant,,ENST00000527655,;EDRF1,downstream_gene_variant,,ENST00000481600,;EDRF1,downstream_gene_variant,,ENST00000419769,;EDRF1,downstream_gene_variant,,ENST00000368812,;EDRF1,downstream_gene_variant,,ENST00000525358,;	1809	32	37	SUCCESS
CYP2E1	1571	.	GRCh37	10	135352533	135352533	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	60	0	ENST00000252945.3:c.*65T>C			ENST00000252945	NM_000773.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7686.1	.	RADIA|MUTECT|MUSE	.	CAGGATTTCTC	NONE	.	.	.	.	.	ENSP00000440689	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000463117	Transcript	.	.	ENSG00000130649	2631	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP2E1_HUMAN	CYP2E1	HGNC	Q4LBD0_HUMAN,F5H694_HUMAN	.	UPI0000128291	SNV	CYP2E1,3_prime_UTR_variant,,ENST00000463117,;CYP2E1,3_prime_UTR_variant,,ENST00000252945,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,downstream_gene_variant,,ENST00000418356,;CYP2E1,downstream_gene_variant,,ENST00000421586,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000469258,;CYP2E1,intron_variant,,ENST00000368520,;CYP2E1,downstream_gene_variant,,ENST00000541080,;	1819	60	48	SUCCESS
VIM	7431	.	GRCh37	10	17279419	17279419	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	49	136	0	ENST00000224237.5:c.*149A>G			ENST00000224237				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAACCGAC	NONE	.	.	.	.	.	ENSP00000446007	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000544301	Transcript	1	.	ENSG00000026025	12692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VIME_HUMAN	VIM	HGNC	.	.	UPI00000012EB	SNV	VIM,3_prime_UTR_variant,,ENST00000544301,;VIM,3_prime_UTR_variant,,ENST00000224237,;VIM,downstream_gene_variant,,ENST00000421459,;RP11-124N14.3,upstream_gene_variant,,ENST00000456355,;VIM,downstream_gene_variant,,ENST00000495528,;VIM,3_prime_UTR_variant,,ENST00000487938,;VIM,3_prime_UTR_variant,,ENST00000469543,;	1963	136	74	SUCCESS
THNSL1	79896	.	GRCh37	10	25315214	25315214	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	50	0	ENST00000376356.4:c.*830A>T			ENST00000376356	NM_024838.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7147.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGATGTGT	NONE	.	.	.	.	.	ENSP00000434887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000524413	Transcript	.	.	ENSG00000185875	26160	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THNS1_HUMAN	THNSL1	HGNC	Q9H6P9_HUMAN,Q8N9J5_HUMAN	.	UPI00001F9045	SNV	THNSL1,3_prime_UTR_variant,,ENST00000524413,;THNSL1,3_prime_UTR_variant,,ENST00000376356,;	3409	50	42	SUCCESS
VDAC2	7417	.	GRCh37	10	76990773	76990773	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	88	257	0	ENST00000332211.6:c.*26T>C			ENST00000332211	NM_003375.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53544.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAATGGATA	NONE	.	.	.	.	.	ENSP00000361635	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000313132	Transcript	.	.	ENSG00000165637	12672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VDAC2_HUMAN	VDAC2	HGNC	A2A3S1_HUMAN	.	UPI00004589C0	SNV	VDAC2,3_prime_UTR_variant,,ENST00000332211,;VDAC2,3_prime_UTR_variant,,ENST00000543351,;VDAC2,3_prime_UTR_variant,,ENST00000535553,;VDAC2,3_prime_UTR_variant,,ENST00000313132,;VDAC2,downstream_gene_variant,,ENST00000298468,;COMTD1,downstream_gene_variant,,ENST00000469299,;COMTD1,downstream_gene_variant,,ENST00000372538,;COMTD1,downstream_gene_variant,,ENST00000490521,;COMTD1,downstream_gene_variant,,ENST00000460899,;COMTD1,downstream_gene_variant,,ENST00000494596,;COMTD1,downstream_gene_variant,,ENST00000491270,;COMTD1,downstream_gene_variant,,ENST00000470947,;VDAC2,non_coding_transcript_exon_variant,,ENST00000460044,;	1205	257	215	SUCCESS
LDB3	11155	.	GRCh37	10	88492735	88492735	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs749293288	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	71	134	0	ENST00000361373.4:c.*2C>T			ENST00000361373	NM_007078.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53550.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGCGGCCA	NONE	byFrequency	.	.	.	.	ENSP00000401437	.	14/14	.	.	.	.	.	.	.	.	rs749293288	14/14	PASS	ENST00000429277	Transcript	1	.	ENSG00000122367	15710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDB3_HUMAN	LDB3	HGNC	.	.	UPI00017A876A	SNV	LDB3,3_prime_UTR_variant,,ENST00000352360,;LDB3,3_prime_UTR_variant,,ENST00000361373,;LDB3,3_prime_UTR_variant,,ENST00000458213,;LDB3,3_prime_UTR_variant,,ENST00000263066,;LDB3,3_prime_UTR_variant,,ENST00000429277,;	2346	134	166	SUCCESS
ZNF518A	9849	.	GRCh37	10	97923204	97923204	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	235	78	330	0				ENST00000316045				0	.	.	.	.	.	G	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTTCTAG	NONE	.	.	.	.	.	.	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000534948	Transcript	.	.	ENSG00000177853	29009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF518A	HGNC	.	.	.	SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	7980	330	313	SUCCESS
ZNF518A	9849	.	GRCh37	10	97923449	97923449	+	downstream_gene_variant	3'Flank	DEL	A	A	-	rs183508965	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	389	158	382	0				ENST00000316045				0	.	G:0	.	G:0	.	-	.	processed_transcript	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGCAGAAAAAA	NONE	by1000G	.	.	G:0.001	.	.	G:0	7/7	.	.	.	.	.	.	.	.	rs183508965	7/7	PASS	ENST00000534948	Transcript	.	G:0.0002	ENSG00000177853	29009	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	.	ZNF518A	HGNC	.	.	.	deletion	ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000316045,;ZNF518A,downstream_gene_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	8225	382	547	SUCCESS
TTC12	54970	.	GRCh37	11	113238977	113238977	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs1429600392	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	10	0				ENST00000529221	NM_017868.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8360.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGCAGGT	NONE	.	1863	.	.	.	ENSP00000433757	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000529221	Transcript	.	.	ENSG00000149292	23700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC12_HUMAN	TTC12	HGNC	E9PIS6_HUMAN,C9JYU1_HUMAN,C9JPY5_HUMAN,C9J1D2_HUMAN,A8K8G6_HUMAN	.	UPI000013F914	SNV	TTC12,missense_variant,p.Arg704His,ENST00000314756,;TTC12,intron_variant,,ENST00000393020,;TTC12,downstream_gene_variant,,ENST00000529221,;TTC12,downstream_gene_variant,,ENST00000483239,;RP11-159N11.4,upstream_gene_variant,,ENST00000602900,;TTC12,downstream_gene_variant,,ENST00000480233,;TTC12,missense_variant,p.Arg704His,ENST00000494714,;TTC12,missense_variant,p.Ala74Thr,ENST00000462711,;TTC12,downstream_gene_variant,,ENST00000464224,;TTC12,downstream_gene_variant,,ENST00000496311,;	.	10	14	SUCCESS
CXCR5	643	.	GRCh37	11	118765376	118765376	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	63	1	ENST00000292174.4:c.*4C>A			ENST00000292174	NM_001716.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8403.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCCCAGTG	NONE	.	.	.	.	.	ENSP00000335320	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,3_prime_UTR_variant,,ENST00000334801,;CXCR5,3_prime_UTR_variant,,ENST00000292174,;BCL9L,downstream_gene_variant,,ENST00000526514,;BCL9L,downstream_gene_variant,,ENST00000526143,;	9213	64	63	SUCCESS
SORL1	6653	.	GRCh37	11	121500414	121500414	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	13	0	ENST00000260197.7:c.*142A>G			ENST00000260197	NM_003105.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8436.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAAGGAAA	NONE	.	.	.	.	.	ENSP00000260197	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,3_prime_UTR_variant,,ENST00000260197,;SORL1,downstream_gene_variant,,ENST00000534286,;SORL1,downstream_gene_variant,,ENST00000527934,;SORL1,downstream_gene_variant,,ENST00000525532,;SORL1,downstream_gene_variant,,ENST00000532694,;SORL1,intron_variant,,ENST00000530365,;SORL1,downstream_gene_variant,,ENST00000527649,;	6916	13	19	SUCCESS
SIRT3	23410	.	GRCh37	11	216570	216570	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	4	31	0	ENST00000382743.4:c.*128G>A			ENST00000382743	NM_012239.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7691.1	.	MUTECT|MUSE	.	AGCCTCGGGTG	NONE	.	.	.	.	.	ENSP00000372191	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000382743	Transcript	.	.	ENSG00000142082	14931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIR3_HUMAN	SIRT3	HGNC	E9PNA0_HUMAN,E9PM52_HUMAN	.	UPI0000073D3C	SNV	SIRT3,3_prime_UTR_variant,,ENST00000532956,;SIRT3,3_prime_UTR_variant,,ENST00000525319,;SIRT3,3_prime_UTR_variant,,ENST00000524564,;SIRT3,3_prime_UTR_variant,,ENST00000382743,;SIRT3,downstream_gene_variant,,ENST00000529382,;RIC8A,downstream_gene_variant,,ENST00000524854,;RIC8A,downstream_gene_variant,,ENST00000325207,;RIC8A,downstream_gene_variant,,ENST00000527696,;RIC8A,downstream_gene_variant,,ENST00000527728,;RIC8A,downstream_gene_variant,,ENST00000526104,;RIC8A,downstream_gene_variant,,ENST00000529275,;RIC8A,downstream_gene_variant,,ENST00000531541,;SIRT3,3_prime_UTR_variant,,ENST00000529937,;SIRT3,3_prime_UTR_variant,,ENST00000532837,;RIC8A,downstream_gene_variant,,ENST00000526557,;RIC8A,downstream_gene_variant,,ENST00000527039,;RIC8A,downstream_gene_variant,,ENST00000530149,;RIC8A,downstream_gene_variant,,ENST00000532241,;	1431	31	45	SUCCESS
CDKN1C	1028	.	GRCh37	11	2905227	2905227	+	splice_donor_variant	Splice_Site	SNP	A	A	G	rs587777866	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	58	157	0	ENST00000414822.3:c.*5+2T>C			ENST00000414822	NM_000076.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7738.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCACTTGG	NONE	.	.	.	.	.	ENSP00000413720	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000414822	Transcript	.	.	ENSG00000129757	1786	.	.	HIGH	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDN1C_HUMAN	CDKN1C	HGNC	.	.	UPI0000127442	SNV	CDKN1C,splice_donor_variant,,ENST00000380725,;CDKN1C,splice_donor_variant,,ENST00000440480,;CDKN1C,splice_donor_variant,,ENST00000414822,;CDKN1C,splice_donor_variant,,ENST00000430149,;CDKN1C,splice_donor_variant,,ENST00000313407,;SLC22A18AS,downstream_gene_variant,,ENST00000533594,;SLC22A18AS,downstream_gene_variant,,ENST00000526203,;SLC22A18AS,downstream_gene_variant,,ENST00000455942,;CDKN1C,splice_donor_variant,,ENST00000471157,;	.	157	139	SUCCESS
ALX4	60529	.	GRCh37	11	44286358	44286358	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs72905941	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	91	1	ENST00000329255.3:c.*46G>A			ENST00000329255	NM_021926.3			0	T:0	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS31468.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGCGTGGC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0021	ENSP00000332744	T:0.004	4/4	.	.	.	.	.	.	.	.	rs72905941	4/4	common_in_exac	ENST00000329255	Transcript	.	T:0.0010	ENSG00000052850	450	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	ALX4_HUMAN	ALX4	HGNC	.	.	UPI000016A402	SNV	ALX4,3_prime_UTR_variant,,ENST00000329255,;	1386	92	64	SUCCESS
SCGB1A1	7356	.	GRCh37	11	62190625	62190625	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs139584575	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	56	0	ENST00000278282.2:c.*62C>T			ENST00000278282	NM_003357.4			0	T:0.0014	T:0.0053	.	T:0	.	T	.	protein_coding	YES	CCDS8020.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCACGCCCA	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0	ENSP00000278282	T:0	3/3	.	.	.	.	.	.	.	.	rs139584575	3/3	PASS	ENST00000278282	Transcript	.	T:0.0014	ENSG00000149021	12523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	UTER_HUMAN	SCGB1A1	HGNC	E9PN95_HUMAN	.	UPI00000369D1	SNV	SCGB1A1,3_prime_UTR_variant,,ENST00000534397,;SCGB1A1,3_prime_UTR_variant,,ENST00000278282,;CTD-2531D15.4,intron_variant,,ENST00000528983,;	399	56	42	SUCCESS
TMEM223	79064	.	GRCh37	11	62557912	62557912	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1317910100	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	24	0	ENST00000307366.7:c.*183A>C			ENST00000307366	NM_001080501.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44628.1	.	MUTECT|MUSE	.	TTTTTTGTTTT	NONE	.	.	.	.	.	ENSP00000303987	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307366	Transcript	.	.	ENSG00000168569	28464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM223_HUMAN	TMEM223	HGNC	.	.	UPI00003D0905	SNV	TMEM223,3_prime_UTR_variant,,ENST00000307366,;TMEM223,intron_variant,,ENST00000525631,;TMEM223,intron_variant,,ENST00000528367,;NXF1,downstream_gene_variant,,ENST00000532297,;TMEM179B,downstream_gene_variant,,ENST00000526546,;NXF1,downstream_gene_variant,,ENST00000530875,;TMEM179B,downstream_gene_variant,,ENST00000533861,;TAF6L,downstream_gene_variant,,ENST00000294168,;NXF1,downstream_gene_variant,,ENST00000294172,;NXF1,downstream_gene_variant,,ENST00000527902,;TMEM179B,downstream_gene_variant,,ENST00000333449,;NXF1,downstream_gene_variant,,ENST00000531709,;RP11-727F15.12,upstream_gene_variant,,ENST00000601484,;TMEM223,intron_variant,,ENST00000527073,;NXF1,downstream_gene_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000533440,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533499,;NXF1,downstream_gene_variant,,ENST00000527497,;	819	24	17	SUCCESS
MAP4K2	5871	.	GRCh37	11	64556956	64556956	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	21	54	0	ENST00000294066.2:c.*53G>A			ENST00000294066	NM_004579.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8082.1	.	MUTECT|MUSE	.	AGGGCCTGCAG	NONE	.	.	.	.	.	ENSP00000294066	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000294066	Transcript	.	.	ENSG00000168067	6864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M4K2_HUMAN	MAP4K2	HGNC	.	.	UPI000013E13D	SNV	MAP4K2,3_prime_UTR_variant,,ENST00000377350,;MAP4K2,3_prime_UTR_variant,,ENST00000294066,;RP11-869B15.1,upstream_gene_variant,,ENST00000598393,;MAP4K2,3_prime_UTR_variant,,ENST00000424945,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000470088,;MAP4K2,downstream_gene_variant,,ENST00000489952,;MAP4K2,downstream_gene_variant,,ENST00000433890,;	2608	54	46	SUCCESS
EHD1	10938	.	GRCh37	11	64621800	64621800	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs780161304	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	20	0	ENST00000320631.3:c.*5G>A			ENST00000320631	NM_006795.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8084.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCGCCAT	NONE	.	.	.	.	.	ENSP00000320516	.	5/5	.	.	.	.	.	.	.	.	rs780161304	5/5	PASS	ENST00000320631	Transcript	.	.	ENSG00000110047	3242	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EHD1_HUMAN	EHD1	HGNC	C9JIJ3_HUMAN,C9JDQ8_HUMAN,C9J2Z4_HUMAN,C9IZH1_HUMAN,B2R5U3_HUMAN	.	UPI0000129E22	SNV	EHD1,3_prime_UTR_variant,,ENST00000359393,;EHD1,3_prime_UTR_variant,,ENST00000320631,;EHD1,downstream_gene_variant,,ENST00000421510,;EHD1,downstream_gene_variant,,ENST00000433803,;EHD1,non_coding_transcript_exon_variant,,ENST00000488711,;EHD1,non_coding_transcript_exon_variant,,ENST00000484846,;EHD1,downstream_gene_variant,,ENST00000498472,;	1865	20	21	SUCCESS
DUSP16	80824	.	GRCh37	12	12633224	12633224	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	35	100	0	ENST00000298573.4:c.*152C>T			ENST00000298573		250		0	.	.	.	.	.	A	R/C	protein_coding	YES	CCDS8650.1	748	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCGGGAGA	NONE	.	.	PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF37,hmmpanther:PTHR10159,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	.	.	ENSP00000228862	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000228862	Transcript	.	.	ENSG00000111266	17909	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.991)	.	deleterious(0.04)	.	DUS16_HUMAN	DUSP16	HGNC	Q8IVT8_HUMAN,F5H5X4_HUMAN	.	UPI0000001BCE	SNV	DUSP16,missense_variant,p.Arg250Cys,ENST00000228862,;DUSP16,3_prime_UTR_variant,,ENST00000298573,;DUSP16,intron_variant,,ENST00000545864,;	1380	100	97	SUCCESS
RP13-895J2.7	0	.	GRCh37	12	132905784	132905784	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	35	105	0				ENST00000537720				0	.	.	.	.	.	T	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACCGCCAT	NONE	.	652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537720	Transcript	.	.	ENSG00000255916	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP13-895J2.7	Clone_based_vega_gene	.	.	.	SNV	GALNT9,synonymous_variant,p.%3D,ENST00000328957,;RP13-895J2.7,upstream_gene_variant,,ENST00000537720,;GALNT9,non_coding_transcript_exon_variant,,ENST00000424720,;	.	105	80	SUCCESS
H2AFJ	0	.	GRCh37	12	14929564	14929564	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs560404843	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	40	102	0	ENST00000544848.1:c.*1775del			ENST00000544848	NM_177925.2			0	.	G:0	.	G:0	.	-	.	protein_coding	YES	CCDS31752.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATGGAAAAAA	NONE	by1000G	.	.	G:0.001	.	ENSP00000438553	G:0	1/1	.	.	.	.	.	.	.	.	rs560404843	1/1	PASS	ENST00000544848	Transcript	.	G:0.0002	ENSG00000246705	14456	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	deletion	H2AFJ,3_prime_UTR_variant,,ENST00000544848,;H2AFJ,3_prime_UTR_variant,,ENST00000501744,;H2AFJ,downstream_gene_variant,,ENST00000389078,;	2295	102	136	SUCCESS
PDE6H	5149	.	GRCh37	12	15134548	15134548	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	26	0	ENST00000266395.2:c.*138C>A			ENST00000266395	NM_006205.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8672.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTACTACTA	NONE	.	.	.	.	.	ENSP00000266395	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000266395	Transcript	.	.	ENSG00000139053	8790	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNCG_HUMAN	PDE6H	HGNC	.	.	UPI0000127C0C	SNV	PDE6H,3_prime_UTR_variant,,ENST00000266395,;	496	26	14	SUCCESS
REP15	387849	.	GRCh37	12	27850383	27850383	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs952963999	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	33	108	0	ENST00000310791.2:c.*183del			ENST00000310791	NM_001029874.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31762.1	.	VARSCANI*|PINDEL	.	AGAGAGAAAAAA	NONE	.	.	.	.	.	ENSP00000310335	.	1/1	.	.	.	.	.	.	.	.	rs745328514	1/1	PASS	ENST00000310791	Transcript	.	.	ENSG00000174236	33748	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REP15_HUMAN	REP15	HGNC	.	.	UPI000013F083	deletion	REP15,3_prime_UTR_variant,,ENST00000310791,;PPFIBP1,downstream_gene_variant,,ENST00000539326,;PPFIBP1,downstream_gene_variant,,ENST00000542629,;PPFIBP1,downstream_gene_variant,,ENST00000537927,;PPFIBP1,downstream_gene_variant,,ENST00000318304,;PPFIBP1,downstream_gene_variant,,ENST00000228425,;RP11-1060J15.4,intron_variant,,ENST00000536922,;RP11-1060J15.4,intron_variant,,ENST00000542660,;RP11-1060J15.4,intron_variant,,ENST00000536317,;RP11-1060J15.5,upstream_gene_variant,,ENST00000418882,;	956	108	154	SUCCESS
ERGIC2	51290	.	GRCh37	12	29493940	29493940	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs1221401604	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	33	169	0	ENST00000360150.4:c.*149del			ENST00000360150	NM_016570.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41765.1	.	VARSCANI*|PINDEL	.	TTTGGGTTTTTT	NONE	.	.	.	.	.	ENSP00000353270	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000360150	Transcript	.	.	ENSG00000087502	30208	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERGI2_HUMAN	ERGIC2	HGNC	Q86TD3_HUMAN,F8VRW9_HUMAN,F8VR88_HUMAN,F8VPA6_HUMAN	.	UPI00000399A2	deletion	ERGIC2,3_prime_UTR_variant,,ENST00000360150,;ERGIC2,downstream_gene_variant,,ENST00000551467,;ERGIC2,downstream_gene_variant,,ENST00000548909,;FAR2,downstream_gene_variant,,ENST00000551193,;ERGIC2,3_prime_UTR_variant,,ENST00000549182,;ERGIC2,downstream_gene_variant,,ENST00000546509,;ERGIC2,downstream_gene_variant,,ENST00000548098,;	1359	169	190	SUCCESS
MUC19	283463	.	GRCh37	12	40941584	40941584	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs758156014	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	28	128	0	ENST00000454784.4:c.*6411G>A			ENST00000454784				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGACGTCCTT	NONE	.	.	.	.	.	ENSP00000476404	.	62/84	.	.	.	.	.	.	.	.	rs758156014	62/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,upstream_gene_variant,,ENST00000542482,;MUC19,non_coding_transcript_exon_variant,,ENST00000492952,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,synonymous_variant,p.%3D,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000541039,;	18037	128	119	SUCCESS
C12orf68	0	.	GRCh37	12	48579709	48579709	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	31	81	0	ENST00000316554.3:c.*1219C>A			ENST00000316554	NM_001013635.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31785.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCCTTGC	NONE	.	.	.	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,3_prime_UTR_variant,,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	2344	81	93	SUCCESS
CSAD	51380	.	GRCh37	12	53552232	53552232	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	43	3	ENST00000444623.1:c.*63T>C			ENST00000444623	NM_001244705.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8848.2	.	MUTECT|MUSE|VARSCANS	.	CTGGGAGGGAA	NONE	.	.	.	.	.	ENSP00000267085	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000267085	Transcript	.	.	ENSG00000139631	18966	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSAD_HUMAN	CSAD	HGNC	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN	.	UPI0000E59693	SNV	CSAD,3_prime_UTR_variant,,ENST00000444623,;CSAD,3_prime_UTR_variant,,ENST00000267085,;CSAD,3_prime_UTR_variant,,ENST00000379846,;CSAD,3_prime_UTR_variant,,ENST00000379843,;CSAD,3_prime_UTR_variant,,ENST00000379850,;CSAD,downstream_gene_variant,,ENST00000453446,;CSAD,downstream_gene_variant,,ENST00000548698,;RP11-1136G11.8,upstream_gene_variant,,ENST00000550908,;CSAD,intron_variant,,ENST00000475890,;CSAD,downstream_gene_variant,,ENST00000485004,;CSAD,downstream_gene_variant,,ENST00000483632,;CSAD,downstream_gene_variant,,ENST00000490589,;CSAD,downstream_gene_variant,,ENST00000490923,;RP11-1136G11.6,downstream_gene_variant,,ENST00000550578,;	1860	47	41	SUCCESS
C12orf61	0	.	GRCh37	12	62996534	62996534	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	28	0	ENST00000408887.2:c.*189T>C			ENST00000408887	NM_175895.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8964.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTAAGATG	NONE	.	.	.	.	.	ENSP00000386169	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408887	Transcript	.	.	ENSG00000221949	26364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL061_HUMAN	C12orf61	HGNC	.	.	UPI000006E6E2	SNV	C12orf61,3_prime_UTR_variant,,ENST00000408887,;MIRLET7I,upstream_gene_variant,,ENST00000362309,;RP11-631N16.2,non_coding_transcript_exon_variant,,ENST00000550290,;	681	28	16	SUCCESS
NEDD1	121441	.	GRCh37	12	97345891	97345891	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	44	0	ENST00000266742.4:c.*60C>T			ENST00000266742	NM_152905.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44955.1	.	MUTECT|MUSE	.	AACTACATAGA	NONE	.	.	.	.	.	ENSP00000451211	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000557644	Transcript	.	.	ENSG00000139350	7723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NEDD1	HGNC	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V3F1_HUMAN,G3V2V3_HUMAN,G3V2M9_HUMAN	.	UPI000004D249	SNV	NEDD1,3_prime_UTR_variant,,ENST00000457368,;NEDD1,3_prime_UTR_variant,,ENST00000557644,;NEDD1,3_prime_UTR_variant,,ENST00000266742,;NEDD1,3_prime_UTR_variant,,ENST00000429527,;NEDD1,3_prime_UTR_variant,,ENST00000411739,;	2210	44	36	SUCCESS
YY1	7528	.	GRCh37	14	100744020	100744020	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	20	66	0	ENST00000262238.4:c.*83A>T			ENST00000262238	NM_003403.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9957.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTATATTATT	NONE	.	.	.	.	.	ENSP00000262238	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000262238	Transcript	1	.	ENSG00000100811	12856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TYY1_HUMAN	YY1	HGNC	G3V3M8_HUMAN	.	UPI00001378FC	SNV	YY1,3_prime_UTR_variant,,ENST00000554804,;YY1,3_prime_UTR_variant,,ENST00000262238,;YY1,downstream_gene_variant,,ENST00000553625,;AL157871.2,downstream_gene_variant,,ENST00000553954,;YY1,non_coding_transcript_exon_variant,,ENST00000554579,;	1588	66	48	SUCCESS
BEGAIN	57596	.	GRCh37	14	101004134	101004134	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	16	0	ENST00000355173.2:c.*172G>A			ENST00000355173	NM_020836.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9962.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACCCTCC	NONE	.	.	.	.	.	ENSP00000411124	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000443071	Transcript	.	.	ENSG00000183092	24163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BEGIN_HUMAN	BEGAIN	HGNC	G3V600_HUMAN,G3V536_HUMAN,G3V3R5_HUMAN,G3V2K4_HUMAN	.	UPI00000710B1	SNV	BEGAIN,3_prime_UTR_variant,,ENST00000355173,;BEGAIN,3_prime_UTR_variant,,ENST00000443071,;BEGAIN,3_prime_UTR_variant,,ENST00000556751,;BEGAIN,downstream_gene_variant,,ENST00000554140,;BEGAIN,downstream_gene_variant,,ENST00000557378,;BEGAIN,downstream_gene_variant,,ENST00000556188,;BEGAIN,downstream_gene_variant,,ENST00000554356,;BEGAIN,downstream_gene_variant,,ENST00000553553,;CTD-2062F14.3,upstream_gene_variant,,ENST00000553301,;	2100	16	28	SUCCESS
MIR655	724025	.	GRCh37	14	101518802	101518802	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	39	123	0				ENST00000362159				0	.	.	.	.	.	A	.	miRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTATCCCTG	NONE	.	.	.	.	.	.	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000384827	Transcript	.	.	ENSG00000207558	32343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR487A	HGNC	.	.	.	SNV	MIR487A,non_coding_transcript_exon_variant,,ENST00000384827,;MIR544A,downstream_gene_variant,,ENST00000384855,;MIR381HG,downstream_gene_variant,,ENST00000553692,;MIR382,downstream_gene_variant,,ENST00000385009,;AL132709.3,downstream_gene_variant,,ENST00000577219,;MIR655,downstream_gene_variant,,ENST00000362159,;MIR485,upstream_gene_variant,,ENST00000385292,;MIR134,upstream_gene_variant,,ENST00000385258,;MIR889,downstream_gene_variant,,ENST00000401280,;MIR323B,upstream_gene_variant,,ENST00000385269,;	20	123	124	SUCCESS
DACT1	51339	.	GRCh37	14	59114555	59114555	+	downstream_gene_variant	3'Flank	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	126	47	102	0				ENST00000335867				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9736.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCTTCTTTTCC	NONE	.	667	.	.	.	ENSP00000337439	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	deletion	DACT1,3_prime_UTR_variant,,ENST00000395153,;DACT1,downstream_gene_variant,,ENST00000335867,;DACT1,downstream_gene_variant,,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000541264,;DACT1,downstream_gene_variant,,ENST00000555845,;	.	102	173	SUCCESS
PPM1A	5494	.	GRCh37	14	60712564	60712564	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs571689700	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	38	80	0				ENST00000395076	NM_021003.4			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS45120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCGCATGT	NONE	by1000G	.	.	A:0	.	ENSP00000327255	A:0	1/6	.	.	.	.	.	.	.	.	rs571689700	1/6	PASS	ENST00000325642	Transcript	.	A:0.0002	ENSG00000100614	9275	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PPM1A_HUMAN	PPM1A	HGNC	E9PL75_HUMAN,E9PKB5_HUMAN,E9PJN3_HUMAN	.	UPI0000E01530	SNV	PPM1A,5_prime_UTR_variant,,ENST00000325642,;PPM1A,5_prime_UTR_variant,,ENST00000529574,;PPM1A,upstream_gene_variant,,ENST00000525399,;PPM1A,upstream_gene_variant,,ENST00000395076,;PPM1A,upstream_gene_variant,,ENST00000325658,;PPM1A,upstream_gene_variant,,ENST00000528241,;CTD-2184C24.2,intron_variant,,ENST00000529171,;CTD-2184C24.2,upstream_gene_variant,,ENST00000553269,;CTD-2184C24.2,upstream_gene_variant,,ENST00000553775,;CTD-2184C24.2,upstream_gene_variant,,ENST00000532515,;PPM1A,5_prime_UTR_variant,,ENST00000531143,;PPM1A,5_prime_UTR_variant,,ENST00000532036,;	95	80	90	SUCCESS
AKAP5	9495	.	GRCh37	14	64938265	64938265	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	8	183	0				ENST00000320636				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9764.1	.	MUTECT|MUSE	.	TCTCATCAATG	NONE	.	.	.	.	.	ENSP00000378207	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394718	Transcript	.	.	ENSG00000179841	375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AKAP5_HUMAN	AKAP5	HGNC	.	.	UPI0000140927	SNV	AKAP5,3_prime_UTR_variant,,ENST00000394718,;ZBTB25,intron_variant,,ENST00000555424,;ZBTB25,intron_variant,,ENST00000555220,;AKAP5,downstream_gene_variant,,ENST00000320636,;	3531	183	154	SUCCESS
FLRT2	23768	.	GRCh37	14	86090020	86090020	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	127	91	181	0	ENST00000330753.4:c.*179T>C			ENST00000330753	NM_013231.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTTTTCTA	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,3_prime_UTR_variant,,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2929	181	219	SUCCESS
SMEK1	0	.	GRCh37	14	91925073	91925073	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs768283019	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	68	0	ENST00000554943.1:c.*30T>C			ENST00000554943				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9895.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAACAGGT	NONE	byFrequency	.	.	.	.	ENSP00000450864	.	15/15	.	.	.	.	.	.	.	.	rs768283019	15/15	PASS	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,3_prime_UTR_variant,,ENST00000554684,;SMEK1,3_prime_UTR_variant,,ENST00000555462,;SMEK1,3_prime_UTR_variant,,ENST00000428424,;SMEK1,3_prime_UTR_variant,,ENST00000337238,;SMEK1,3_prime_UTR_variant,,ENST00000554943,;SMEK1,downstream_gene_variant,,ENST00000555718,;SMEK1,non_coding_transcript_exon_variant,,ENST00000557382,;SMEK1,downstream_gene_variant,,ENST00000554308,;SMEK1,downstream_gene_variant,,ENST00000554390,;	2990	68	63	SUCCESS
NPAP1	23742	.	GRCh37	15	24928271	24928271	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	36	0	ENST00000329468.2:c.*3790del			ENST00000329468	NM_018958.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10015.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAAGTGTTTTTA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	deletion	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	7731	36	45	SUCCESS
DMXL2	23312	.	GRCh37	15	51741060	51741060	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1167016078	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	36	0	ENST00000251076.5:c.*121A>G			ENST00000251076	NM_015263.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53946.1	.	MUTECT|MUSE	.	GGTCATATTCA	NONE	.	.	.	.	.	ENSP00000441858	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000543779	Transcript	.	.	ENSG00000104093	2938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMXL2_HUMAN	DMXL2	HGNC	.	.	UPI00001FE4C2	SNV	DMXL2,3_prime_UTR_variant,,ENST00000449909,;DMXL2,3_prime_UTR_variant,,ENST00000543779,;DMXL2,3_prime_UTR_variant,,ENST00000560891,;DMXL2,3_prime_UTR_variant,,ENST00000251076,;DMXL2,downstream_gene_variant,,ENST00000559059,;RP11-707P17.1,intron_variant,,ENST00000561007,;DMXL2,non_coding_transcript_exon_variant,,ENST00000559769,;DMXL2,downstream_gene_variant,,ENST00000559868,;	9325	36	22	SUCCESS
POLR2M	81488	.	GRCh37	15	58006972	58006972	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1259643969	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	36	225	0	ENST00000299638.3:c.*95A>G			ENST00000299638	NM_015532.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32252.1	.	RADIA|MUTECT|MUSE	.	AGGGAAGTAAT	NONE	.	.	.	.	.	ENSP00000299638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299638	Transcript	.	.	ENSG00000255529	14862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRL1A_HUMAN	POLR2M	HGNC	E9PP13_HUMAN	.	UPI000000D78C	SNV	POLR2M,3_prime_UTR_variant,,ENST00000380557,;POLR2M,3_prime_UTR_variant,,ENST00000299638,;POLR2M,intron_variant,,ENST00000380563,;GCOM1,downstream_gene_variant,,ENST00000587652,;GCOM1,downstream_gene_variant,,ENST00000380568,;GCOM1,downstream_gene_variant,,ENST00000380569,;GCOM1,downstream_gene_variant,,ENST00000484300,;POLR2M,3_prime_UTR_variant,,ENST00000494490,;POLR2M,intron_variant,,ENST00000482852,;GCOM1,downstream_gene_variant,,ENST00000463717,;GCOM1,downstream_gene_variant,,ENST00000496627,;GCOM1,downstream_gene_variant,,ENST00000460962,;GCOM1,downstream_gene_variant,,ENST00000477282,;GCOM1,downstream_gene_variant,,ENST00000482814,;	1416	225	227	SUCCESS
POLR2M	81488	.	GRCh37	15	58007033	58007033	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	21	110	0	ENST00000299638.3:c.*156G>A			ENST00000299638	NM_015532.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32252.1	.	MUTECT|MUSE	.	AGAAGGTGACT	NONE	.	.	.	.	.	ENSP00000299638	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299638	Transcript	.	.	ENSG00000255529	14862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRL1A_HUMAN	POLR2M	HGNC	E9PP13_HUMAN	.	UPI000000D78C	SNV	POLR2M,3_prime_UTR_variant,,ENST00000380557,;POLR2M,3_prime_UTR_variant,,ENST00000299638,;POLR2M,intron_variant,,ENST00000380563,;GCOM1,downstream_gene_variant,,ENST00000587652,;GCOM1,downstream_gene_variant,,ENST00000380568,;GCOM1,downstream_gene_variant,,ENST00000380569,;GCOM1,downstream_gene_variant,,ENST00000484300,;POLR2M,3_prime_UTR_variant,,ENST00000494490,;POLR2M,intron_variant,,ENST00000482852,;GCOM1,downstream_gene_variant,,ENST00000463717,;GCOM1,downstream_gene_variant,,ENST00000496627,;GCOM1,downstream_gene_variant,,ENST00000460962,;GCOM1,downstream_gene_variant,,ENST00000477282,;GCOM1,downstream_gene_variant,,ENST00000482814,;	1477	110	153	SUCCESS
AEN	64782	.	GRCh37	15	89173701	89173702	+	3_prime_UTR_variant	3'UTR	DEL	CT	CT	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	33	0	ENST00000332810.3:c.*185_*186del			ENST00000332810	NM_022767.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10344.1	.	INDELOCATOR|VARSCANI	.	ATAGCCCTCTCTC	NONE	.	.	.	.	.	ENSP00000331944	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332810	Transcript	.	.	ENSG00000181026	25722	9	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AEN_HUMAN	AEN	HGNC	Q8WYW8_HUMAN,H0YMJ6_HUMAN	.	UPI000013DF23	deletion	AEN,3_prime_UTR_variant,,ENST00000332810,;AEN,intron_variant,,ENST00000379231,;AEN,downstream_gene_variant,,ENST00000559528,;AEN,non_coding_transcript_exon_variant,,ENST00000557927,;AEN,downstream_gene_variant,,ENST00000558327,;AEN,downstream_gene_variant,,ENST00000557787,;AEN,downstream_gene_variant,,ENST00000560174,;	1305-1306	33	31	SUCCESS
NDUFB10	4716	.	GRCh37	16	2011941	2011941	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	26	0	ENST00000268668.6:c.*34T>C			ENST00000268668	NM_004548.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10451.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTATGAC	NONE	.	.	.	.	.	ENSP00000268668	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000268668	Transcript	.	.	ENSG00000140990	7696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUBA_HUMAN	NDUFB10	HGNC	Q96RX5_HUMAN,A8K761_HUMAN	.	UPI000013D7D0	SNV	NDUFB10,3_prime_UTR_variant,,ENST00000268668,;NDUFB10,3_prime_UTR_variant,,ENST00000543683,;NDUFB10,3_prime_UTR_variant,,ENST00000569148,;RPL3L,upstream_gene_variant,,ENST00000565426,;RPS2,downstream_gene_variant,,ENST00000527302,;RNF151,upstream_gene_variant,,ENST00000569210,;NDUFB10,downstream_gene_variant,,ENST00000570172,;RPS2,downstream_gene_variant,,ENST00000529806,;RPS2,downstream_gene_variant,,ENST00000533186,;RPS2,downstream_gene_variant,,ENST00000526522,;RPS2,downstream_gene_variant,,ENST00000563194,;RPS2,downstream_gene_variant,,ENST00000530225,;RNF151,upstream_gene_variant,,ENST00000569714,;RPS2,downstream_gene_variant,,ENST00000343262,;RPS2,downstream_gene_variant,,ENST00000526586,;SNHG9,upstream_gene_variant,,ENST00000459373,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNHG9,upstream_gene_variant,,ENST00000564014,;SNORA10,downstream_gene_variant,,ENST00000384084,;SNORA64,downstream_gene_variant,,ENST00000384674,;RPL3L,upstream_gene_variant,,ENST00000566484,;RPS2,downstream_gene_variant,,ENST00000527109,;NDUFB10,downstream_gene_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000533872,;RPS2,downstream_gene_variant,,ENST00000526908,;RPS2,downstream_gene_variant,,ENST00000532746,;RPS2,downstream_gene_variant,,ENST00000527826,;RPS2,downstream_gene_variant,,ENST00000531065,;RPS2,downstream_gene_variant,,ENST00000534461,;RPS2,downstream_gene_variant,,ENST00000527871,;RPS2,downstream_gene_variant,,ENST00000533161,;AC005363.9,downstream_gene_variant,,ENST00000530779,;	670	26	41	SUCCESS
BCL7C	9274	.	GRCh37	16	30846187	30846187	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs767145263	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	41	0	ENST00000380317.4:c.*82G>A			ENST00000380317	NM_001286526.1			0	.	.	.	.	.	T	.	protein_coding	.	CCDS67012.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCCGCCCT	NONE	.	.	.	.	.	ENSP00000369674	.	6/6	.	.	.	.	.	.	.	.	rs767145263	6/6	PASS	ENST00000380317	Transcript	.	.	ENSG00000099385	1006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL7C_HUMAN	BCL7C	HGNC	.	.	UPI00001D6EEE	SNV	BCL7C,3_prime_UTR_variant,,ENST00000380317,;BCL7C,non_coding_transcript_exon_variant,,ENST00000576194,;BCL7C,3_prime_UTR_variant,,ENST00000574418,;	1169	41	41	SUCCESS
BCL7C	9274	.	GRCh37	16	30899130	30899130	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	29	74	0	ENST00000215115.4:c.*56A>G			ENST00000215115	NM_004765.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10693.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTCTTTATTT	NONE	.	.	.	.	.	ENSP00000215115	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000215115	Transcript	.	.	ENSG00000099385	1006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BCL7C_HUMAN	BCL7C	HGNC	.	.	UPI000006F931	SNV	BCL7C,3_prime_UTR_variant,,ENST00000215115,;BCL7C,intron_variant,,ENST00000572628,;BCL7C,intron_variant,,ENST00000380317,;MIR4519,intron_variant,,ENST00000564901,;AC106782.20,intron_variant,,ENST00000572471,;MIR4519,intron_variant,,ENST00000565573,;MIR4519,intron_variant,,ENST00000570025,;BCL7C,intron_variant,,ENST00000574418,;	1726	74	61	SUCCESS
BCKDK	10295	.	GRCh37	16	31123656	31123656	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	20	0	ENST00000219794.6:c.*70C>T			ENST00000219794	NM_005881.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10705.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCAGGGC	NONE	.	.	.	.	.	ENSP00000378405	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000394951	Transcript	.	.	ENSG00000103507	16902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCKD_HUMAN	BCKDK	HGNC	H3BQP2_HUMAN,H3BNP3_HUMAN,A8MY43_HUMAN	.	UPI0000126825	SNV	BCKDK,synonymous_variant,p.%3D,ENST00000567682,;BCKDK,3_prime_UTR_variant,,ENST00000287507,;BCKDK,3_prime_UTR_variant,,ENST00000394951,;BCKDK,3_prime_UTR_variant,,ENST00000394950,;BCKDK,3_prime_UTR_variant,,ENST00000219794,;BCKDK,downstream_gene_variant,,ENST00000484226,;KAT8,upstream_gene_variant,,ENST00000543774,;BCKDK,downstream_gene_variant,,ENST00000561755,;BCKDK,downstream_gene_variant,,ENST00000567676,;AC135050.1,downstream_gene_variant,,ENST00000517000,;BCKDK,3_prime_UTR_variant,,ENST00000567530,;BCKDK,non_coding_transcript_exon_variant,,ENST00000566568,;	1932	20	20	SUCCESS
VASN	114990	.	GRCh37	16	4433386	4433386	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1309552432	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	78	246	1	ENST00000304735.3:c.*486A>T			ENST00000304735	NM_138440.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10514.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTTAAAATATA	NONE	.	.	.	.	.	ENSP00000306864	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304735	Transcript	.	.	ENSG00000168140	18517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VASN_HUMAN	VASN	HGNC	.	.	UPI000003E779	SNV	VASN,3_prime_UTR_variant,,ENST00000304735,;CORO7,intron_variant,,ENST00000423908,;CORO7,intron_variant,,ENST00000539968,;CORO7,intron_variant,,ENST00000574025,;CORO7-PAM16,intron_variant,,ENST00000572467,;CORO7,intron_variant,,ENST00000572549,;CORO7,intron_variant,,ENST00000251166,;CORO7,intron_variant,,ENST00000537233,;CORO7,intron_variant,,ENST00000572044,;CORO7,downstream_gene_variant,,ENST00000571059,;CORO7,intron_variant,,ENST00000574311,;CORO7-PAM16,intron_variant,,ENST00000575334,;CORO7,intron_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000576437,;CORO7,intron_variant,,ENST00000571227,;CORO7,intron_variant,,ENST00000575714,;CORO7,downstream_gene_variant,,ENST00000573245,;	2663	247	227	SUCCESS
UBN1	29855	.	GRCh37	16	4930407	4930407	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs533518938	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	8	0	ENST00000262376.6:c.*274G>A			ENST00000262376	NM_001079514.1			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS10525.1	.	MUTECT|MUSE	.	CTTGCGCTGGG	NONE	by1000G	.	.	A:0	.	ENSP00000379894	A:0.001	17/17	.	.	.	.	.	.	.	.	rs533518938	17/17	PASS	ENST00000396658	Transcript	.	A:0.0002	ENSG00000118900	12506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	UBN1_HUMAN	UBN1	HGNC	K7EQR1_HUMAN	.	UPI0000071469	SNV	UBN1,3_prime_UTR_variant,,ENST00000262376,;UBN1,3_prime_UTR_variant,,ENST00000545171,;UBN1,3_prime_UTR_variant,,ENST00000396658,;PPL,downstream_gene_variant,,ENST00000592772,;PPL,downstream_gene_variant,,ENST00000590782,;UBN1,downstream_gene_variant,,ENST00000590769,;PPL,downstream_gene_variant,,ENST00000345988,;UBN1,3_prime_UTR_variant,,ENST00000589191,;UBN1,downstream_gene_variant,,ENST00000586152,;	4382	8	10	SUCCESS
IRX3	79191	.	GRCh37	16	54317531	54317531	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs760558875	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	38	96	0	ENST00000329734.3:c.*67del			ENST00000329734	NM_024336.2			0	-:0.0047	.	.	.	.	-	.	protein_coding	YES	CCDS10750.1	.	INDELOCATOR|VARSCANI	.	GAGCGATTTTTT	NONE	.	.	.	.	-:0.0051	ENSP00000331608	.	4/4	.	.	.	.	.	.	.	.	rs760558875	4/4	PASS	ENST00000329734	Transcript	.	.	ENSG00000177508	14360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRX3_HUMAN	IRX3	HGNC	.	.	UPI000019745F	deletion	IRX3,3_prime_UTR_variant,,ENST00000329734,;IRX3,3_prime_UTR_variant,,ENST00000558054,;IRX3,downstream_gene_variant,,ENST00000558180,;	2286	96	102	SUCCESS
THAP11	57215	.	GRCh37	16	67877499	67877499	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	75	0	ENST00000303596.1:c.*97A>C			ENST00000303596	NM_020457.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10847.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGACAGTA	NONE	.	.	.	.	.	ENSP00000304689	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303596	Transcript	.	.	ENSG00000168286	23194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THA11_HUMAN	THAP11	HGNC	B5APZ3_HUMAN	.	UPI000013E8BD	SNV	THAP11,3_prime_UTR_variant,,ENST00000303596,;CENPT,intron_variant,,ENST00000561593,;CENPT,intron_variant,,ENST00000562787,;CENPT,intron_variant,,ENST00000565114,;NUTF2,upstream_gene_variant,,ENST00000219169,;NUTF2,upstream_gene_variant,,ENST00000568396,;NUTF2,upstream_gene_variant,,ENST00000569436,;NUTF2,upstream_gene_variant,,ENST00000567105,;CENPT,upstream_gene_variant,,ENST00000567985,;CENPT,intron_variant,,ENST00000568652,;CENPT,intron_variant,,ENST00000565132,;CENPT,intron_variant,,ENST00000568765,;CENPT,intron_variant,,ENST00000569094,;CENPT,upstream_gene_variant,,ENST00000564346,;CENPT,upstream_gene_variant,,ENST00000564144,;CENPT,upstream_gene_variant,,ENST00000567482,;CENPT,upstream_gene_variant,,ENST00000565385,;CENPT,upstream_gene_variant,,ENST00000565436,;CENPT,upstream_gene_variant,,ENST00000569019,;NUTF2,upstream_gene_variant,,ENST00000568390,;NUTF2,upstream_gene_variant,,ENST00000570026,;NUTF2,upstream_gene_variant,,ENST00000568233,;	1287	75	58	SUCCESS
WWOX	51741	.	GRCh37	16	79245910	79245910	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	9	0	ENST00000566780.1:c.*217G>T			ENST00000566780	NM_016373.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42196.1	.	MUTECT|MUSE	.	GCATAGGTCTC	NONE	.	.	.	.	.	ENSP00000457230	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000566780	Transcript	.	.	ENSG00000186153	12799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WWOX_HUMAN	WWOX	HGNC	.	.	UPI000004C797	SNV	WWOX,missense_variant,p.Arg272Met,ENST00000402655,;WWOX,3_prime_UTR_variant,,ENST00000406884,;WWOX,3_prime_UTR_variant,,ENST00000539474,;WWOX,3_prime_UTR_variant,,ENST00000566780,;RP11-679B19.2,downstream_gene_variant,,ENST00000569677,;WWOX,non_coding_transcript_exon_variant,,ENST00000566103,;WWOX,3_prime_UTR_variant,,ENST00000569332,;	1828	9	10	SUCCESS
PKD1L2	114780	.	GRCh37	16	81201594	81201594	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	37	0				ENST00000527937				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	CCACAGCCTGA	NONE	.	3226	.	.	.	ENSP00000432818	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000527937	Transcript	.	.	ENSG00000166473	21715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PK1L2_HUMAN	PKD1L2	HGNC	.	.	UPI00001C0DE3	SNV	PKD1L2,downstream_gene_variant,,ENST00000527937,;PKD1L2,downstream_gene_variant,,ENST00000531391,;PKD1L2,downstream_gene_variant,,ENST00000526632,;PKD1L2,downstream_gene_variant,,ENST00000337114,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,missense_variant,p.Ala1008Asp,ENST00000525539,;PKD1L2,missense_variant,p.Ala323Asp,ENST00000533478,;	.	37	34	SUCCESS
TRAPPC2L	51693	.	GRCh37	16	88928077	88928077	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	28	0	ENST00000301021.3:c.*710G>A			ENST00000301021				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45547.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGAGCCCAT	NONE	.	1664	.	.	.	ENSP00000408598	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419291	Transcript	.	.	ENSG00000205022	37237	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPAB2_HUMAN	PABPN1L	HGNC	.	.	UPI0000D61A2F	SNV	PABPN1L,missense_variant,p.Ala276Val,ENST00000378358,;TRAPPC2L,3_prime_UTR_variant,,ENST00000301021,;TRAPPC2L,3_prime_UTR_variant,,ENST00000565504,;PABPN1L,downstream_gene_variant,,ENST00000427766,;TRAPPC2L,downstream_gene_variant,,ENST00000568583,;GALNS,upstream_gene_variant,,ENST00000568311,;PABPN1L,downstream_gene_variant,,ENST00000419291,;TRAPPC2L,downstream_gene_variant,,ENST00000564365,;GALNS,upstream_gene_variant,,ENST00000268695,;TRAPPC2L,downstream_gene_variant,,ENST00000561840,;PABPN1L,downstream_gene_variant,,ENST00000411789,;PABPN1L,downstream_gene_variant,,ENST00000547152,;GALNS,upstream_gene_variant,,ENST00000542788,;TRAPPC2L,downstream_gene_variant,,ENST00000567312,;GALNS,upstream_gene_variant,,ENST00000569433,;TRAPPC2L,downstream_gene_variant,,ENST00000567895,;GALNS,upstream_gene_variant,,ENST00000565364,;TRAPPC2L,downstream_gene_variant,,ENST00000565309,;TRAPPC2L,downstream_gene_variant,,ENST00000562792,;TRAPPC2L,downstream_gene_variant,,ENST00000562125,;GALNS,upstream_gene_variant,,ENST00000568613,;GALNS,upstream_gene_variant,,ENST00000567525,;TRAPPC2L,downstream_gene_variant,,ENST00000564547,;TRAPPC2L,downstream_gene_variant,,ENST00000563514,;TRAPPC2L,downstream_gene_variant,,ENST00000565205,;TRAPPC2L,downstream_gene_variant,,ENST00000564404,;	.	28	37	SUCCESS
HS3ST3A1	9955	.	GRCh37	17	13399378	13399378	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	13	70	1	ENST00000284110.1:c.*136C>G			ENST00000284110	NM_006042.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11165.1	.	MUTECT|MUSE	.	GGAGTGAGAAC	NONE	.	.	.	.	.	ENSP00000284110	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000284110	Transcript	.	.	ENSG00000153976	5196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HS3SA_HUMAN	HS3ST3A1	HGNC	J3KSX5_HUMAN	.	UPI000000DAA6	SNV	HS3ST3A1,3_prime_UTR_variant,,ENST00000284110,;HS3ST3A1,downstream_gene_variant,,ENST00000578576,;AC005375.1,downstream_gene_variant,,ENST00000578401,;	2155	71	45	SUCCESS
CDK5R1	8851	.	GRCh37	17	30818043	30818043	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	60	144	0	ENST00000313401.3:c.*2486del			ENST00000313401	NM_003885.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11273.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTGGTTTTTT	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	deletion	CDK5R1,3_prime_UTR_variant,,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000394649,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,downstream_gene_variant,,ENST00000584792,;RP11-466A19.1,upstream_gene_variant,,ENST00000581360,;MYO1D,downstream_gene_variant,,ENST00000577576,;CDK5R1,downstream_gene_variant,,ENST00000584716,;MYO1D,downstream_gene_variant,,ENST00000577352,;	4094	144	198	SUCCESS
GJD3	125111	.	GRCh37	17	38520749	38520749	+	upstream_gene_variant	5'Flank	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	124	42	157	0				ENST00000578689	NM_152219.3			0	.	.	.	.	.	-	.	protein_coding	YES	.	.	VARSCANI*|PINDEL	.	CCTCCCTGGCCT	NONE	.	.	.	.	.	ENSP00000462786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000578774	Transcript	.	.	ENSG00000266208	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CTD-2267D19.3	Clone_based_vega_gene	J3KT39_HUMAN	.	UPI0000D47800	deletion	CTD-2267D19.3,3_prime_UTR_variant,,ENST00000578774,;GJD3,upstream_gene_variant,,ENST00000337376,;GJD3,upstream_gene_variant,,ENST00000578689,;CTD-2267D19.4,upstream_gene_variant,,ENST00000583752,;	1898	157	166	SUCCESS
CCR7	1236	.	GRCh37	17	38710943	38710943	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	17	44	0	ENST00000246657.2:c.*51G>A			ENST00000246657	NM_001838.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATCCCCACCC	NONE	.	.	.	.	.	ENSP00000246657	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000246657	Transcript	.	.	ENSG00000126353	1608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR7_HUMAN	CCR7	HGNC	J3KTN5_HUMAN,J3KSS9_HUMAN,A0N0Q0_HUMAN	.	UPI0000001C2F	SNV	CCR7,3_prime_UTR_variant,,ENST00000246657,;CCR7,3_prime_UTR_variant,,ENST00000579344,;CCR7,downstream_gene_variant,,ENST00000578085,;	1251	44	42	SUCCESS
STAT3	6774	.	GRCh37	17	40467640	40467640	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs201259337	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	27	0	ENST00000264657.5:c.*123del			ENST00000264657	NM_139276.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32656.1	.	INDELOCATOR|VARSCANI	.	GAGATTAAAAAA	NONE	.	.	.	.	.	ENSP00000264657	.	24/24	.	.	.	.	.	.	.	.	rs745710035	24/24	PASS	ENST00000264657	Transcript	.	.	ENSG00000168610	11364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAT3_HUMAN	STAT3	HGNC	G8JLH9_HUMAN	.	UPI0000031047	deletion	STAT3,3_prime_UTR_variant,,ENST00000588969,;STAT3,3_prime_UTR_variant,,ENST00000585517,;STAT3,3_prime_UTR_variant,,ENST00000404395,;STAT3,3_prime_UTR_variant,,ENST00000264657,;STAT3,3_prime_UTR_variant,,ENST00000389272,;STAT5A,downstream_gene_variant,,ENST00000546010,;STAT5A,downstream_gene_variant,,ENST00000590949,;STAT5A,downstream_gene_variant,,ENST00000452307,;STAT5A,downstream_gene_variant,,ENST00000345506,;STAT5A,downstream_gene_variant,,ENST00000588868,;STAT3,non_coding_transcript_exon_variant,,ENST00000491272,;STAT3,non_coding_transcript_exon_variant,,ENST00000462286,;STAT3,non_coding_transcript_exon_variant,,ENST00000462269,;	2749	27	19	SUCCESS
ADAM11	4185	.	GRCh37	17	42857240	42857240	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1598897177	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	41	0	ENST00000200557.6:c.*118C>T			ENST00000200557	NM_002390.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11486.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCTTCAACTC	NONE	.	.	.	.	.	ENSP00000200557	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000200557	Transcript	.	.	ENSG00000073670	189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADA11_HUMAN	ADAM11	HGNC	.	.	UPI000013C629	SNV	ADAM11,3_prime_UTR_variant,,ENST00000535346,;ADAM11,3_prime_UTR_variant,,ENST00000200557,;ADAM11,3_prime_UTR_variant,,ENST00000587773,;ADAM11,3_prime_UTR_variant,,ENST00000355638,;ADAM11,downstream_gene_variant,,ENST00000588363,;	2597	41	36	SUCCESS
SCRN2	90507	.	GRCh37	17	45915105	45915105	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	20	0	ENST00000290216.9:c.*105del			ENST00000290216	NM_001145023.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11519.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCTCAGAACATG	NONE	.	.	.	.	.	ENSP00000290216	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000290216	Transcript	.	.	ENSG00000141295	30381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SCRN2_HUMAN	SCRN2	HGNC	J3QR84_HUMAN	.	UPI000013DFCB	deletion	SCRN2,3_prime_UTR_variant,,ENST00000407215,;SCRN2,3_prime_UTR_variant,,ENST00000584123,;SCRN2,3_prime_UTR_variant,,ENST00000290216,;SCRN2,3_prime_UTR_variant,,ENST00000584567,;LRRC46,downstream_gene_variant,,ENST00000269025,;SCRN2,downstream_gene_variant,,ENST00000578323,;SCRN2,3_prime_UTR_variant,,ENST00000582459,;SCRN2,3_prime_UTR_variant,,ENST00000581645,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,downstream_gene_variant,,ENST00000578840,;SCRN2,downstream_gene_variant,,ENST00000583090,;LRRC46,downstream_gene_variant,,ENST00000584809,;SCRN2,downstream_gene_variant,,ENST00000581546,;LRRC46,downstream_gene_variant,,ENST00000584580,;SCRN2,downstream_gene_variant,,ENST00000582656,;LRRC46,downstream_gene_variant,,ENST00000579971,;SCRN2,downstream_gene_variant,,ENST00000579856,;SCRN2,downstream_gene_variant,,ENST00000580428,;	1509	20	30	SUCCESS
XAF1	54739	.	GRCh37	17	6676525	6676525	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	38	0	ENST00000361842.3:c.*37T>C			ENST00000361842	NM_017523.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11080.1	.	MUTECT|MUSE	.	AAGATTTCACT	NONE	.	.	.	.	.	ENSP00000354822	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361842	Transcript	.	.	ENSG00000132530	30932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XAF1_HUMAN	XAF1	HGNC	I3L3D9_HUMAN	.	UPI000020078D	SNV	XAF1,3_prime_UTR_variant,,ENST00000361842,;XAF1,3_prime_UTR_variant,,ENST00000346752,;XAF1,3_prime_UTR_variant,,ENST00000441631,;FBXO39,upstream_gene_variant,,ENST00000321535,;XAF1,3_prime_UTR_variant,,ENST00000571217,;XAF1,downstream_gene_variant,,ENST00000571673,;XAF1,downstream_gene_variant,,ENST00000576724,;XAF1,downstream_gene_variant,,ENST00000575369,;XAF1,downstream_gene_variant,,ENST00000574962,;XAF1,downstream_gene_variant,,ENST00000573518,;	1182	38	24	SUCCESS
EXOC7	23265	.	GRCh37	17	74079608	74079608	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1038292097	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	28	0	ENST00000335146.7:c.*121C>T			ENST00000335146				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45782.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCGTGGAG	NONE	.	.	.	.	.	ENSP00000334100	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000335146	Transcript	.	.	ENSG00000182473	23214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOC7_HUMAN	EXOC7	HGNC	C9JME6_HUMAN,C9JKC2_HUMAN	.	UPI00001AFC78	SNV	EXOC7,3_prime_UTR_variant,,ENST00000589210,;EXOC7,3_prime_UTR_variant,,ENST00000332065,;EXOC7,3_prime_UTR_variant,,ENST00000335146,;EXOC7,3_prime_UTR_variant,,ENST00000467929,;EXOC7,3_prime_UTR_variant,,ENST00000607838,;ZACN,downstream_gene_variant,,ENST00000392503,;EXOC7,downstream_gene_variant,,ENST00000357231,;EXOC7,downstream_gene_variant,,ENST00000411744,;ZACN,downstream_gene_variant,,ENST00000334586,;EXOC7,downstream_gene_variant,,ENST00000405575,;EXOC7,upstream_gene_variant,,ENST00000591724,;EXOC7,non_coding_transcript_exon_variant,,ENST00000465252,;ZACN,non_coding_transcript_exon_variant,,ENST00000590045,;EXOC7,downstream_gene_variant,,ENST00000486053,;EXOC7,downstream_gene_variant,,ENST00000494787,;EXOC7,downstream_gene_variant,,ENST00000467586,;ZACN,downstream_gene_variant,,ENST00000421794,;EXOC7,downstream_gene_variant,,ENST00000592559,;ZACN,downstream_gene_variant,,ENST00000591500,;ZACN,downstream_gene_variant,,ENST00000524242,;ZACN,downstream_gene_variant,,ENST00000425015,;EXOC7,downstream_gene_variant,,ENST00000460476,;	2383	28	21	SUCCESS
MXRA7	439921	.	GRCh37	17	74673646	74673646	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs746977136	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	20	0	ENST00000355797.3:c.*24G>A			ENST00000355797	NM_001008528.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32745.1	.	MUTECT|MUSE	.	ATGGCCGCTGT	NONE	byFrequency	.	.	.	.	ENSP00000348050	.	4/4	.	.	.	.	.	.	.	.	rs746977136	4/4	PASS	ENST00000355797	Transcript	.	.	ENSG00000182534	7541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MXRA7_HUMAN	MXRA7	HGNC	.	.	UPI000023765A	SNV	MXRA7,3_prime_UTR_variant,,ENST00000355797,;MXRA7,downstream_gene_variant,,ENST00000449428,;MXRA7,downstream_gene_variant,,ENST00000375036,;MXRA7,downstream_gene_variant,,ENST00000585519,;MXRA7,downstream_gene_variant,,ENST00000589082,;MXRA7,downstream_gene_variant,,ENST00000588114,;MXRA7,downstream_gene_variant,,ENST00000592148,;RP11-318A15.2,downstream_gene_variant,,ENST00000565271,;	648	20	22	SUCCESS
TBCD	6904	.	GRCh37	17	80900525	80900525	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1027444848	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	11	22	0	ENST00000355528.4:c.*186C>T			ENST00000355528	NM_005993.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45818.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGGACGCCTC	NONE	.	.	.	.	.	ENSP00000347719	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000355528	Transcript	.	.	ENSG00000141556	11581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBCD_HUMAN	TBCD	HGNC	I3L4D2_HUMAN,I3L439_HUMAN,I3L3H4_HUMAN,I3L1S3_HUMAN,I3L163_HUMAN,I3L131_HUMAN	.	UPI000020053F	SNV	TBCD,3_prime_UTR_variant,,ENST00000539345,;TBCD,3_prime_UTR_variant,,ENST00000355528,;TBCD,3_prime_UTR_variant,,ENST00000572794,;TBCD,3_prime_UTR_variant,,ENST00000577051,;B3GNTL1,downstream_gene_variant,,ENST00000576599,;B3GNTL1,downstream_gene_variant,,ENST00000320865,;B3GNTL1,non_coding_transcript_exon_variant,,ENST00000572267,;TBCD,non_coding_transcript_exon_variant,,ENST00000576691,;B3GNTL1,downstream_gene_variant,,ENST00000570947,;TBCD,downstream_gene_variant,,ENST00000576603,;B3GNTL1,3_prime_UTR_variant,,ENST00000572977,;TBCD,non_coding_transcript_exon_variant,,ENST00000572389,;TBCD,non_coding_transcript_exon_variant,,ENST00000576677,;TBCD,non_coding_transcript_exon_variant,,ENST00000576432,;TBCD,downstream_gene_variant,,ENST00000573364,;B3GNTL1,downstream_gene_variant,,ENST00000571394,;B3GNTL1,downstream_gene_variant,,ENST00000571301,;TBCD,downstream_gene_variant,,ENST00000575132,;B3GNTL1,downstream_gene_variant,,ENST00000573363,;	3895	22	18	SUCCESS
CHMP1B	57132	.	GRCh37	18	11853351	11853351	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	64	160	0	ENST00000526991.2:c.*1241C>T			ENST00000526991	NM_020412.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54180.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGTATT	NONE	.	.	.	.	.	ENSP00000432279	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000526991	Transcript	.	.	ENSG00000255112	24287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHM1B_HUMAN	CHMP1B	HGNC	B2RA72_HUMAN	.	UPI00000373BD	SNV	CHMP1B,3_prime_UTR_variant,,ENST00000526991,;GNAL,intron_variant,,ENST00000535121,;GNAL,intron_variant,,ENST00000585642,;GNAL,intron_variant,,ENST00000334049,;GNAL,intron_variant,,ENST00000269162,;GNAL,intron_variant,,ENST00000423027,;GNAL,intron_variant,,ENST00000590228,;GNAL,upstream_gene_variant,,ENST00000602628,;RP11-78A19.3,upstream_gene_variant,,ENST00000586474,;RP11-78A19.4,downstream_gene_variant,,ENST00000609238,;CHMP1B,upstream_gene_variant,,ENST00000588284,;	1957	160	165	SUCCESS
ZNF521	25925	.	GRCh37	18	22642669	22642669	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	41	0	ENST00000361524.3:c.*7T>C			ENST00000361524	NM_015461.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32806.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTACTTGC	NONE	.	.	.	.	.	ENSP00000354794	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000361524	Transcript	.	.	ENSG00000198795	24605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN521_HUMAN	ZNF521	HGNC	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN	.	UPI000006F982	SNV	ZNF521,3_prime_UTR_variant,,ENST00000538137,;ZNF521,3_prime_UTR_variant,,ENST00000584787,;ZNF521,3_prime_UTR_variant,,ENST00000361524,;ZNF521,3_prime_UTR_variant,,ENST00000399425,;	4092	41	46	SUCCESS
FECH	2235	.	GRCh37	18	55217925	55217925	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs374230862	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	56	0	ENST00000262093.5:c.*19G>A			ENST00000262093	NM_000140.3			0	G:0	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS32836.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCACGGGGT	NONE	byCluster|by1000G	.	.	T:0.001	G:0.0001	ENSP00000372326	T:0	11/11	.	.	.	.	.	.	.	.	rs374230862	11/11	PASS	ENST00000382873	Transcript	.	T:0.0002	ENSG00000066926	3647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	HEMH_HUMAN	FECH	HGNC	Q8TD50_HUMAN,K7EPN2_HUMAN,B4DSA4_HUMAN	.	UPI00004E55EB	SNV	FECH,3_prime_UTR_variant,,ENST00000262093,;FECH,3_prime_UTR_variant,,ENST00000382873,;FECH,downstream_gene_variant,,ENST00000592699,;FECH,downstream_gene_variant,,ENST00000591977,;FECH,3_prime_UTR_variant,,ENST00000585494,;	1343	56	53	SUCCESS
CBLN2	147381	.	GRCh37	18	70205360	70205360	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs368883601	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	99	0	ENST00000269503.4:c.*51C>A			ENST00000269503	NM_182511.3			0	A:0	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS11999.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCGGAGTC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0006	ENSP00000269503	A:0	5/5	.	.	.	.	.	.	.	.	rs368883601	5/5	PASS	ENST00000269503	Transcript	.	A:0.0004	ENSG00000141668	1544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	CBLN2_HUMAN	CBLN2	HGNC	.	.	UPI0000032E73	SNV	CBLN2,3_prime_UTR_variant,,ENST00000584764,;CBLN2,3_prime_UTR_variant,,ENST00000585159,;CBLN2,3_prime_UTR_variant,,ENST00000269503,;CBLN2,downstream_gene_variant,,ENST00000581073,;CBLN2,non_coding_transcript_exon_variant,,ENST00000583651,;CBLN2,non_coding_transcript_exon_variant,,ENST00000581425,;	1500	100	68	SUCCESS
YES1	7525	.	GRCh37	18	724267	724268	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs1319799918	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	20	0	ENST00000314574.4:c.*156dup			ENST00000314574	NM_005433.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11824.1	.	INDELOCATOR|VARSCANI	.	TTGGGGAAAAA	NONE	.	.	.	.	.	ENSP00000462468	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000584307	Transcript	.	.	ENSG00000176105	12841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YES_HUMAN	YES1	HGNC	.	.	UPI0000062316	insertion	YES1,3_prime_UTR_variant,,ENST00000314574,;YES1,3_prime_UTR_variant,,ENST00000584307,;YES1,3_prime_UTR_variant,,ENST00000577961,;	1959-1960	20	20	SUCCESS
MUM1	0	.	GRCh37	19	1376620	1376620	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1478569091	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	212	0	ENST00000344663.3:c.*45G>A			ENST00000344663				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12062.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCGCCTCC	NONE	.	.	.	.	.	ENSP00000345789	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000344663	Transcript	.	.	ENSG00000160953	29641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUM1	HGNC	K7EP97_HUMAN,K7END0_HUMAN,J3KNX4_HUMAN	.	UPI00001A95DB	SNV	MUM1,3_prime_UTR_variant,,ENST00000415183,;MUM1,3_prime_UTR_variant,,ENST00000591806,;MUM1,3_prime_UTR_variant,,ENST00000344663,;MUM1,3_prime_UTR_variant,,ENST00000311401,;AC004623.2,downstream_gene_variant,,ENST00000589673,;AC004623.2,downstream_gene_variant,,ENST00000587059,;MUM1,non_coding_transcript_exon_variant,,ENST00000588888,;MUM1,non_coding_transcript_exon_variant,,ENST00000591453,;MUM1,non_coding_transcript_exon_variant,,ENST00000586067,;MUM1,3_prime_UTR_variant,,ENST00000587460,;MUM1,non_coding_transcript_exon_variant,,ENST00000591627,;	2282	212	109	SUCCESS
ZNF738	148203	.	GRCh37	19	21561094	21561094	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs558721469	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	34	0	ENST00000311015.3:c.*809C>T			ENST00000311015				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGCGTATC	NONE	.	.	.	.	.	ENSP00000311957	.	5/5	.	.	.	.	.	.	.	.	rs558721469	5/5	PASS	ENST00000311015	Transcript	.	.	ENSG00000172687	32469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN738_HUMAN	ZNF738	HGNC	.	.	UPI000006D73F	SNV	ZNF738,3_prime_UTR_variant,,ENST00000311015,;ZNF738,3_prime_UTR_variant,,ENST00000597810,;ZNF738,intron_variant,,ENST00000380870,;ZNF738,downstream_gene_variant,,ENST00000597492,;CTD-2561J22.1,downstream_gene_variant,,ENST00000597319,;CTD-2561J22.2,upstream_gene_variant,,ENST00000594254,;	1434	34	31	SUCCESS
RGS9BP	388531	.	GRCh37	19	33169091	33169091	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	165	45	252	0	ENST00000334176.3:c.*1214C>A			ENST00000334176	NM_207391.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12424.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCAATGA	NONE	.	.	.	.	.	ENSP00000334134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334176	Transcript	1	.	ENSG00000186326	30304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R9BP_HUMAN	RGS9BP	HGNC	.	.	UPI0000198BA8	SNV	RGS9BP,3_prime_UTR_variant,,ENST00000334176,;ANKRD27,upstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000306065,;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;ANKRD27,upstream_gene_variant,,ENST00000590519,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	2779	252	210	SUCCESS
ZFR2	23217	.	GRCh37	19	3805943	3805943	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs761165824	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	25	100	0	ENST00000262961.4:c.*4G>A			ENST00000262961	NM_015174.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45921.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGCGGCTC	NONE	byFrequency	.	.	.	.	ENSP00000262961	.	19/19	.	.	.	.	.	.	.	.	rs761165824	19/19	PASS	ENST00000262961	Transcript	.	.	ENSG00000105278	29189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFR2_HUMAN	ZFR2	HGNC	.	.	UPI0000DD84BE	SNV	ZFR2,3_prime_UTR_variant,,ENST00000262961,;MATK,upstream_gene_variant,,ENST00000395045,;MATK,upstream_gene_variant,,ENST00000590849,;MATK,upstream_gene_variant,,ENST00000590980,;MATK,upstream_gene_variant,,ENST00000590821,;MATK,upstream_gene_variant,,ENST00000592300,;MATK,upstream_gene_variant,,ENST00000592612,;	2835	100	33	SUCCESS
ZNF540	163255	.	GRCh37	19	38104182	38104182	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	35	0	ENST00000316433.4:c.*18A>G			ENST00000316433	NM_001172225.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12506.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCATGTCA	NONE	.	.	.	.	.	ENSP00000466274	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000592533	Transcript	.	.	ENSG00000171817	25331	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN540_HUMAN	ZNF540	HGNC	K7EK80_HUMAN	.	UPI00000732BB	SNV	ZNF540,3_prime_UTR_variant,,ENST00000316433,;ZNF540,3_prime_UTR_variant,,ENST00000343599,;ZNF540,3_prime_UTR_variant,,ENST00000589117,;ZNF540,3_prime_UTR_variant,,ENST00000592533,;ZNF540,downstream_gene_variant,,ENST00000586134,;ZNF540,downstream_gene_variant,,ENST00000590588,;ZFP30,downstream_gene_variant,,ENST00000589018,;ZNF540,downstream_gene_variant,,ENST00000586792,;ZNF540,downstream_gene_variant,,ENST00000589857,;ZNF540,non_coding_transcript_exon_variant,,ENST00000589285,;	2333	35	38	SUCCESS
ZNF540	163255	.	GRCh37	19	38104247	38104247	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs1170996575	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	16	0	ENST00000316433.4:c.*89del			ENST00000316433	NM_001172225.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12506.1	.	INDELOCATOR|VARSCANI	.	TTGATGTTTTTT	NONE	.	.	.	.	.	ENSP00000466274	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000592533	Transcript	.	.	ENSG00000171817	25331	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN540_HUMAN	ZNF540	HGNC	K7EK80_HUMAN	.	UPI00000732BB	deletion	ZNF540,3_prime_UTR_variant,,ENST00000316433,;ZNF540,3_prime_UTR_variant,,ENST00000343599,;ZNF540,3_prime_UTR_variant,,ENST00000589117,;ZNF540,3_prime_UTR_variant,,ENST00000592533,;ZNF540,downstream_gene_variant,,ENST00000586134,;ZNF540,downstream_gene_variant,,ENST00000590588,;ZFP30,downstream_gene_variant,,ENST00000589018,;ZNF540,downstream_gene_variant,,ENST00000586792,;ZNF540,downstream_gene_variant,,ENST00000589857,;ZNF540,non_coding_transcript_exon_variant,,ENST00000589285,;	2398	16	17	SUCCESS
LRFN1	57622	.	GRCh37	19	39798258	39798258	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	27	0	ENST00000248668.4:c.*15C>T			ENST00000248668	NM_020862.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46071.1	.	MUTECT|MUSE	.	TCCCGGCGCCC	NONE	.	.	.	.	.	ENSP00000248668	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000248668	Transcript	.	.	ENSG00000128011	29290	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRFN1_HUMAN	LRFN1	HGNC	.	.	UPI00001A5C55	SNV	LRFN1,3_prime_UTR_variant,,ENST00000248668,;	2331	27	17	SUCCESS
BLOC1S3	388552	.	GRCh37	19	45685038	45685038	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	26	119	0	ENST00000433642.2:c.*1875A>T			ENST00000433642	NM_212550.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12656.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTGATTAAA	NONE	.	.	.	.	.	ENSP00000393840	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000433642	Transcript	1	.	ENSG00000189114	20914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S3_HUMAN	BLOC1S3	HGNC	K7EN58_HUMAN,K7ELZ0_HUMAN	.	UPI0000202628	SNV	BLOC1S3,3_prime_UTR_variant,,ENST00000433642,;MARK4,intron_variant,,ENST00000587566,;TRAPPC6A,upstream_gene_variant,,ENST00000588062,;TRAPPC6A,upstream_gene_variant,,ENST00000592647,;TRAPPC6A,upstream_gene_variant,,ENST00000006275,;BLOC1S3,downstream_gene_variant,,ENST00000592910,;BLOC1S3,downstream_gene_variant,,ENST00000587722,;TRAPPC6A,upstream_gene_variant,,ENST00000585934,;BLOC1S3,downstream_gene_variant,,ENST00000588362,;AC005779.2,intron_variant,,ENST00000593083,;TRAPPC6A,upstream_gene_variant,,ENST00000587818,;AC005779.1,downstream_gene_variant,,ENST00000441087,;	2580	119	127	SUCCESS
ZNF578	147660	.	GRCh37	19	52954858	52954858	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	24	0				ENST00000421239	NM_001099694.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54310.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCCTGTG	NONE	.	1971	.	.	.	ENSP00000459216	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421239	Transcript	.	.	ENSG00000258405	26449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN578_HUMAN	ZNF578	HGNC	M0QZV4_HUMAN	.	UPI000048A457	SNV	ZNF534,3_prime_UTR_variant,,ENST00000301085,;ZNF534,3_prime_UTR_variant,,ENST00000432303,;ZNF578,upstream_gene_variant,,ENST00000421239,;ZNF578,upstream_gene_variant,,ENST00000596674,;ZNF578,upstream_gene_variant,,ENST00000596382,;ZNF578,upstream_gene_variant,,ENST00000602221,;ZNF578,upstream_gene_variant,,ENST00000594118,;	.	24	26	SUCCESS
ZNF677	342926	.	GRCh37	19	53740048	53740048	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	14	0	ENST00000333952.4:c.*177C>T			ENST00000333952				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12861.1	.	MUTECT|MUSE	.	AGTAAGAATTC	NONE	.	.	.	.	.	ENSP00000334394	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000333952	Transcript	.	.	ENSG00000197928	28730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN677_HUMAN	ZNF677	HGNC	M0R297_HUMAN	.	UPI000017DF85	SNV	ZNF677,3_prime_UTR_variant,,ENST00000598513,;ZNF677,3_prime_UTR_variant,,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000594517,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;	2098	14	22	SUCCESS
CACNG7	59284	.	GRCh37	19	54445641	54445641	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	19	0				ENST00000222212	NM_031896.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12868.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACTCCTCGCT	NONE	.	.	.	.	.	ENSP00000375647	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000391767	Transcript	.	.	ENSG00000105605	13626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCG7_HUMAN	CACNG7	HGNC	.	.	UPI00000010F1	SNV	CACNG7,3_prime_UTR_variant,,ENST00000391767,;CACNG7,downstream_gene_variant,,ENST00000391766,;CACNG7,downstream_gene_variant,,ENST00000222212,;CACNG7,downstream_gene_variant,,ENST00000468076,;	1134	19	25	SUCCESS
OSCAR	126014	.	GRCh37	19	54598444	54598444	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1245158494	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	80	183	0	ENST00000359649.4:c.*499C>T			ENST00000359649	NM_206818.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12876.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCGCCACT	NONE	.	.	.	.	.	ENSP00000352671	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,3_prime_UTR_variant,,ENST00000284648,;OSCAR,3_prime_UTR_variant,,ENST00000351806,;OSCAR,3_prime_UTR_variant,,ENST00000356532,;OSCAR,3_prime_UTR_variant,,ENST00000359649,;OSCAR,3_prime_UTR_variant,,ENST00000391761,;OSCAR,3_prime_UTR_variant,,ENST00000358375,;OSCAR,downstream_gene_variant,,ENST00000391760,;	1383	183	182	SUCCESS
CNOT3	4849	.	GRCh37	19	54659276	54659276	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	28	0	ENST00000221232.5:c.*135del			ENST00000221232	NM_014516.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12881.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGGAGGGGGC	NONE	.	.	.	.	.	ENSP00000222224	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000222224	Transcript	.	.	ENSG00000105617	15502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LENG1_HUMAN	LENG1	HGNC	.	.	UPI0000073A30	deletion	LENG1,3_prime_UTR_variant,,ENST00000222224,;CNOT3,3_prime_UTR_variant,,ENST00000406403,;CNOT3,3_prime_UTR_variant,,ENST00000471126,;CNOT3,3_prime_UTR_variant,,ENST00000221232,;TMC4,downstream_gene_variant,,ENST00000376591,;TMC4,downstream_gene_variant,,ENST00000301187,;CNOT3,downstream_gene_variant,,ENST00000457463,;TMC4,downstream_gene_variant,,ENST00000416963,;CNOT3,downstream_gene_variant,,ENST00000358389,;CNOT3,downstream_gene_variant,,ENST00000496327,;CNOT3,3_prime_UTR_variant,,ENST00000447684,;CNOT3,non_coding_transcript_exon_variant,,ENST00000482247,;CNOT3,non_coding_transcript_exon_variant,,ENST00000489953,;TMC4,downstream_gene_variant,,ENST00000449860,;TMC4,downstream_gene_variant,,ENST00000494594,;TMC4,downstream_gene_variant,,ENST00000465790,;	1165	28	27	SUCCESS
LILRB1	10859	.	GRCh37	19	55148382	55148382	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	46	0	ENST00000324602.7:c.*53C>T			ENST00000324602	NM_001278399.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42614.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAGCTGCCC	NONE	.	.	.	.	.	ENSP00000315997	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,3_prime_UTR_variant,,ENST00000396317,;LILRB1,3_prime_UTR_variant,,ENST00000448689,;LILRB1,3_prime_UTR_variant,,ENST00000396331,;LILRB1,3_prime_UTR_variant,,ENST00000396315,;LILRB1,3_prime_UTR_variant,,ENST00000427581,;LILRB1,3_prime_UTR_variant,,ENST00000396327,;LILRB1,3_prime_UTR_variant,,ENST00000418536,;LILRB1,3_prime_UTR_variant,,ENST00000434867,;LILRB1,3_prime_UTR_variant,,ENST00000324602,;LILRB1,3_prime_UTR_variant,,ENST00000396332,;LILRB1,3_prime_UTR_variant,,ENST00000396321,;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	2237	46	38	SUCCESS
MLLT1	4298	.	GRCh37	19	6213019	6213019	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	43	0	ENST00000252674.7:c.*34del			ENST00000252674	NM_005934.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12160.1	.	INDELOCATOR*|PINDEL	.	CCAGGACCCCGG	NONE	.	.	.	.	.	ENSP00000252674	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000252674	Transcript	.	.	ENSG00000130382	7134	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ENL_HUMAN	MLLT1	HGNC	.	.	UPI000006F7B3	deletion	MLLT1,3_prime_UTR_variant,,ENST00000252674,;CTC-503J8.6,upstream_gene_variant,,ENST00000586154,;CTC-503J8.6,upstream_gene_variant,,ENST00000587473,;MLLT1,downstream_gene_variant,,ENST00000585588,;	1878	43	39	SUCCESS
DENND1C	79958	.	GRCh37	19	6467259	6467259	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	11	0	ENST00000381480.2:c.*256C>A			ENST00000381480	NM_024898.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45938.1	.	MUTECT|MUSE	.	TGGTGGGTGCA	NONE	.	.	.	.	.	ENSP00000370889	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000381480	Transcript	.	.	ENSG00000205744	26225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN1C_HUMAN	DENND1C	HGNC	K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN	.	UPI000007469C	SNV	DENND1C,3_prime_UTR_variant,,ENST00000381480,;SLC25A23,upstream_gene_variant,,ENST00000597307,;CRB3,downstream_gene_variant,,ENST00000308243,;CRB3,downstream_gene_variant,,ENST00000600229,;CRB3,downstream_gene_variant,,ENST00000598494,;CRB3,downstream_gene_variant,,ENST00000356762,;DENND1C,downstream_gene_variant,,ENST00000543576,;DENND1C,3_prime_UTR_variant,,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590444,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590818,;DENND1C,downstream_gene_variant,,ENST00000591795,;	2775	11	10	SUCCESS
FAM46C	0	.	GRCh37	1	118168911	118168911	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs573530048	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	39	119	0	ENST00000369448.3:c.*2250del			ENST00000369448	NM_017709.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS896.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTATGTTTTTT	NONE	byCluster	.	.	.	.	ENSP00000358458	.	2/2	.	.	.	.	.	.	.	.	rs573530048	2/2	PASS	ENST00000369448	Transcript	.	.	ENSG00000183508	24712	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	deletion	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	3668	119	128	SUCCESS
KIAA2013	90231	.	GRCh37	1	11980369	11980369	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1428522683	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	65	0	ENST00000376572.3:c.*3G>A			ENST00000376572	NM_138346.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS141.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTCACTCA	NONE	.	.	.	.	.	ENSP00000365756	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376572	Transcript	.	.	ENSG00000116685	28513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2013_HUMAN	KIAA2013	HGNC	.	.	UPI00000741FB	SNV	KIAA2013,3_prime_UTR_variant,,ENST00000376572,;KIAA2013,downstream_gene_variant,,ENST00000376576,;	2094	65	83	SUCCESS
GNRHR2	114814	.	GRCh37	1	145509916	145509916	+	downstream_gene_variant	3'Flank	DEL	T	T	-	rs1553755631	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	28	107	0				ENST00000469718				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS916.1	.	INDELOCATOR*|PINDEL	.	TCACAGTTTTTT	NONE	.	.	.	.	.	ENSP00000333001	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330165	Transcript	.	.	ENSG00000131795	9905	5	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBM8A_HUMAN	RBM8A	HGNC	.	.	UPI0000004160	deletion	RBM8A,3_prime_UTR_variant,,ENST00000330165,;RBM8A,downstream_gene_variant,,ENST00000369307,;RP11-315I20.1,upstream_gene_variant,,ENST00000448561,;RP11-315I20.1,upstream_gene_variant,,ENST00000598103,;RP11-315I20.1,upstream_gene_variant,,ENST00000599147,;RP11-315I20.1,upstream_gene_variant,,ENST00000595494,;RP11-315I20.1,upstream_gene_variant,,ENST00000595518,;RP11-315I20.1,upstream_gene_variant,,ENST00000599469,;RP11-315I20.1,upstream_gene_variant,,ENST00000598354,;RP11-315I20.1,upstream_gene_variant,,ENST00000421764,;RP11-315I20.1,upstream_gene_variant,,ENST00000437797,;RP11-315I20.1,upstream_gene_variant,,ENST00000412239,;RP11-315I20.1,upstream_gene_variant,,ENST00000597144,;RP11-315I20.1,upstream_gene_variant,,ENST00000601726,;RP11-315I20.1,upstream_gene_variant,,ENST00000596355,;RP11-315I20.1,upstream_gene_variant,,ENST00000447686,;RP11-315I20.1,upstream_gene_variant,,ENST00000599626,;RP11-315I20.1,upstream_gene_variant,,ENST00000600340,;GNRHR2,non_coding_transcript_exon_variant,,ENST00000361928,;GNRHR2,non_coding_transcript_exon_variant,,ENST00000312753,;GNRHR2,downstream_gene_variant,,ENST00000604273,;GNRHR2,downstream_gene_variant,,ENST00000469718,;RBM8A,downstream_gene_variant,,ENST00000484825,;RBM8A,downstream_gene_variant,,ENST00000498663,;GNRHR2,non_coding_transcript_exon_variant,,ENST00000581100,;	1299	107	166	SUCCESS
PIP5K1A	8394	.	GRCh37	1	151220458	151220458	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	29	0				ENST00000368888	NM_001135638.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44219.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTAATAGA	NONE	.	94	.	.	.	ENSP00000357883	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368888	Transcript	.	.	ENSG00000143398	8994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PI51A_HUMAN	PIP5K1A	HGNC	P78517_HUMAN,A6PW58_HUMAN	.	UPI000006F821	SNV	PIP5K1A,3_prime_UTR_variant,,ENST00000441902,;PIP5K1A,3_prime_UTR_variant,,ENST00000368890,;PIP5K1A,3_prime_UTR_variant,,ENST00000414290,;PIP5K1A,3_prime_UTR_variant,,ENST00000409426,;PIP5K1A,3_prime_UTR_variant,,ENST00000349792,;PIP5K1A,downstream_gene_variant,,ENST00000368888,;PIP5K1A,non_coding_transcript_exon_variant,,ENST00000489625,;	.	29	32	SUCCESS
FCRL4	83417	.	GRCh37	1	157545235	157545235	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs776494146	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	37	0	ENST00000271532.1:c.*79C>T			ENST00000271532	NM_031282.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1166.1	.	RADIA|MUTECT|MUSE	.	GGGCCGCAAGG	NONE	.	.	.	.	.	ENSP00000271532	.	12/12	.	.	.	.	.	.	.	.	rs776494146	12/12	PASS	ENST00000271532	Transcript	.	.	ENSG00000163518	18507	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCRL4_HUMAN	FCRL4	HGNC	.	.	UPI000006E26B	SNV	FCRL4,3_prime_UTR_variant,,ENST00000271532,;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;FCRL4,downstream_gene_variant,,ENST00000479869,;	1763	37	43	SUCCESS
AGMAT	79814	.	GRCh37	1	15899943	15899943	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs527506857	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	29	59	0	ENST00000375826.3:c.*203A>G			ENST00000375826	NM_024758.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS160.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTCCCCC	NONE	byFrequency|by1000G	.	.	.	.	ENSP00000364986	.	7/7	.	.	.	.	.	.	.	.	rs527506857	7/7	PASS	ENST00000375826	Transcript	.	C:0.0022	ENSG00000116771	18407	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPEB_HUMAN	AGMAT	HGNC	.	.	UPI00000412AC	SNV	AGMAT,3_prime_UTR_variant,,ENST00000375826,;DNAJC16,intron_variant,,ENST00000375849,;DNAJC16,downstream_gene_variant,,ENST00000375847,;DNAJC16,intron_variant,,ENST00000483270,;DNAJC16,downstream_gene_variant,,ENST00000495523,;DNAJC16,downstream_gene_variant,,ENST00000475133,;	1405	59	59	SUCCESS
F11R	50848	.	GRCh37	1	160968510	160968510	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	21	58	0	ENST00000368026.6:c.*151T>C			ENST00000368026	NM_016946.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGACATTA	NONE	.	.	.	.	.	ENSP00000357005	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000368026	Transcript	.	.	ENSG00000158769	14685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JAM1_HUMAN	F11R	HGNC	Q6FIB4_HUMAN	.	UPI0000000DC1	SNV	F11R,3_prime_UTR_variant,,ENST00000537746,;F11R,3_prime_UTR_variant,,ENST00000368026,;F11R,downstream_gene_variant,,ENST00000472573,;F11R,downstream_gene_variant,,ENST00000335772,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000289779,;RP11-544M22.13,downstream_gene_variant,,ENST00000470694,;F11R,downstream_gene_variant,,ENST00000602966,;	1326	58	46	SUCCESS
TADA1	117143	.	GRCh37	1	166826739	166826740	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs1244561124	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	89	27	77	0	ENST00000367874.4:c.*64dup			ENST00000367874	NM_053053.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1255.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGACCCAAAAA	NONE	.	.	.	.	.	ENSP00000356848	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367874	Transcript	.	.	ENSG00000152382	30631	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TADA1_HUMAN	TADA1	HGNC	.	.	UPI00000709B6	insertion	TADA1,3_prime_UTR_variant,,ENST00000367874,;POGK,downstream_gene_variant,,ENST00000367876,;POGK,downstream_gene_variant,,ENST00000537173,;POGK,downstream_gene_variant,,ENST00000367875,;TADA1,non_coding_transcript_exon_variant,,ENST00000467021,;	1166-1167	77	116	SUCCESS
TMEM52	339456	.	GRCh37	1	1849317	1849317	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	6	107	0	ENST00000310991.3:c.*4A>C			ENST00000310991	NM_178545.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35.1	.	MUTECT|MUSE	.	CTACCTCCTTC	NONE	.	.	.	.	.	ENSP00000311122	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000310991	Transcript	.	.	ENSG00000178821	27916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM52_HUMAN	TMEM52	HGNC	R4GMU3_HUMAN	.	UPI00000728B5	SNV	TMEM52,3_prime_UTR_variant,,ENST00000310991,;TMEM52,3_prime_UTR_variant,,ENST00000378598,;TMEM52,3_prime_UTR_variant,,ENST00000378602,;C1orf222,downstream_gene_variant,,ENST00000493964,;CALML6,downstream_gene_variant,,ENST00000378604,;TMEM52,downstream_gene_variant,,ENST00000416272,;CALML6,downstream_gene_variant,,ENST00000307786,;CALML6,downstream_gene_variant,,ENST00000462293,;C1orf222,downstream_gene_variant,,ENST00000464311,;TMEM52,downstream_gene_variant,,ENST00000602604,;TMEM52,downstream_gene_variant,,ENST00000470931,;C1orf222,downstream_gene_variant,,ENST00000412120,;CALML6,downstream_gene_variant,,ENST00000482402,;	642	107	103	SUCCESS
PRG4	10216	.	GRCh37	1	186283666	186283666	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	43	0	ENST00000445192.2:c.*762del			ENST00000445192	NM_005807.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1369.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACATTAAAAAA	NONE	.	.	.	.	.	ENSP00000399679	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000445192	Transcript	.	.	ENSG00000116690	9364	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRG4_HUMAN	PRG4	HGNC	B3KQ20_HUMAN	.	UPI0000070EF9	deletion	PRG4,3_prime_UTR_variant,,ENST00000367486,;PRG4,3_prime_UTR_variant,,ENST00000367483,;PRG4,3_prime_UTR_variant,,ENST00000367485,;PRG4,3_prime_UTR_variant,,ENST00000367484,;PRG4,3_prime_UTR_variant,,ENST00000445192,;TPR,intron_variant,,ENST00000367478,;RNU6-1240P,upstream_gene_variant,,ENST00000365155,;TPR,downstream_gene_variant,,ENST00000467810,;	5016	43	40	SUCCESS
DFFB	1677	.	GRCh37	1	3800376	3800377	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs1331229533	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	76	0	ENST00000378209.3:c.*78dup			ENST00000378209	NM_004402.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS52.1	.	INDELOCATOR|VARSCANI	.	TTTTTGTTTTT	NONE	.	.	.	.	.	ENSP00000367454	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000378209	Transcript	.	.	ENSG00000169598	2773	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DFFB_HUMAN	DFFB	HGNC	Q96P72_HUMAN	.	UPI000006230F	insertion	DFFB,3_prime_UTR_variant,,ENST00000378209,;AL691523.1,upstream_gene_variant,,ENST00000579705,;DFFB,3_prime_UTR_variant,,ENST00000477548,;DFFB,3_prime_UTR_variant,,ENST00000491998,;DFFB,3_prime_UTR_variant,,ENST00000475969,;DFFB,3_prime_UTR_variant,,ENST00000468793,;DFFB,3_prime_UTR_variant,,ENST00000378206,;DFFB,3_prime_UTR_variant,,ENST00000339350,;DFFB,intron_variant,,ENST00000461150,;	1411-1412	76	72	SUCCESS
BTBD19	149478	.	GRCh37	1	45279793	45279793	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	9	0	ENST00000450269.1:c.*349A>G			ENST00000450269	NM_001136537.1			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AGCTCAGCTCC	NONE	.	.	.	.	.	ENSP00000395461	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000450269	Transcript	.	.	ENSG00000222009	27145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTBDJ_HUMAN	BTBD19	HGNC	.	.	UPI00001619D4	SNV	BTBD19,3_prime_UTR_variant,,ENST00000450269,;BTBD19,3_prime_UTR_variant,,ENST00000453418,;BTBD19,downstream_gene_variant,,ENST00000409335,;BTBD19,downstream_gene_variant,,ENST00000464114,;BTBD19,non_coding_transcript_exon_variant,,ENST00000485668,;BTBD19,downstream_gene_variant,,ENST00000439563,;BTBD19,downstream_gene_variant,,ENST00000495433,;BTBD19,downstream_gene_variant,,ENST00000482715,;BTBD19,downstream_gene_variant,,ENST00000475105,;BTBD19,downstream_gene_variant,,ENST00000489976,;	1564	9	8	SUCCESS
CYP4Z1	199974	.	GRCh37	1	47583620	47583620	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs747305644	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	17	111	1	ENST00000334194.3:c.*14C>T			ENST00000334194	NM_178134.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS545.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCGTATA	NONE	byFrequency	.	.	.	.	ENSP00000334246	.	12/12	.	.	.	.	.	.	.	.	rs747305644	12/12	PASS	ENST00000334194	Transcript	.	.	ENSG00000186160	20583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP4Z1_HUMAN	CYP4Z1	HGNC	.	.	UPI00000477F8	SNV	CYP4Z1,3_prime_UTR_variant,,ENST00000334194,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4Z1,non_coding_transcript_exon_variant,,ENST00000471598,;	1535	112	86	SUCCESS
SNX7	51375	.	GRCh37	1	99127263	99127263	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	18	27	0				ENST00000306121	NM_015976.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS755.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCGGCCGG	NONE	.	16	.	.	.	ENSP00000304429	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306121	Transcript	.	.	ENSG00000162627	14971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX7_HUMAN	SNX7	HGNC	B7ZC83_HUMAN	.	UPI0000205396	SNV	SNX7,5_prime_UTR_variant,,ENST00000370189,;SNX7,5_prime_UTR_variant,,ENST00000529992,;SNX7,upstream_gene_variant,,ENST00000306121,;SNX7,upstream_gene_variant,,ENST00000454199,;SNX7,upstream_gene_variant,,ENST00000473868,;SNX7,upstream_gene_variant,,ENST00000528824,;	.	27	28	SUCCESS
NXT1	29107	.	GRCh37	20	23335207	23335207	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1001526409	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	36	146	0	ENST00000254998.2:c.*106C>T			ENST00000254998	NM_013248.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCGGAGA	NONE	.	.	.	.	.	ENSP00000254998	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000254998	Transcript	.	.	ENSG00000132661	15913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXT1_HUMAN	NXT1	HGNC	.	.	UPI0000111F8B	SNV	NXT1,3_prime_UTR_variant,,ENST00000254998,;AL096677.1,upstream_gene_variant,,ENST00000596205,;RP3-322G13.5,downstream_gene_variant,,ENST00000444981,;RP3-322G13.5,downstream_gene_variant,,ENST00000442440,;RP3-322G13.5,downstream_gene_variant,,ENST00000452395,;RP3-322G13.7,upstream_gene_variant,,ENST00000442884,;	916	146	114	SUCCESS
PRNP	5621	.	GRCh37	20	4680843	4680843	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs900660419	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	36	81	0	ENST00000379440.4:c.*215C>T			ENST00000379440	NM_001080121.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13080.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCCGTTGC	NONE	.	.	.	.	.	ENSP00000368752	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000379440	Transcript	1	.	ENSG00000171867	9449	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRIO_HUMAN	PRNP	HGNC	Q86XR1_HUMAN,Q6SES1_HUMAN,Q53YK7_HUMAN,O75942_HUMAN,A2A2V1_HUMAN	.	UPI0000033C27	SNV	PRNP,3_prime_UTR_variant,,ENST00000430350,;PRNP,3_prime_UTR_variant,,ENST00000379440,;PRNP,downstream_gene_variant,,ENST00000424424,;PRNP,downstream_gene_variant,,ENST00000457586,;	1264	81	75	SUCCESS
FAM217B	63939	.	GRCh37	20	58521499	58521499	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	48	113	0	ENST00000358293.3:c.*1349A>G			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13484.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAACTTTT	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,downstream_gene_variant,,ENST00000469084,;	2916	113	116	SUCCESS
C21orf140	0	.	GRCh37	21	35774505	35774505	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs576500591	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	31	0				ENST00000410005	NM_001282537.1			0	.	C:0.003	.	C:0.0014	.	C	.	protein_coding	YES	CCDS63357.1	.	MUTECT|MUSE	.	TTTTTTCCCTC	NONE	byFrequency|by1000G	1135	.	C:0	.	ENSP00000386791	C:0.002	.	.	.	.	.	.	.	.	.	rs576500591	.	PASS	ENST00000410005	Transcript	.	C:0.0018	ENSG00000222018	39602	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.002	.	.	YU009_HUMAN	C21orf140	HGNC	.	.	UPI00003EE47F	SNV	SMIM11,3_prime_UTR_variant,,ENST00000399299,;C21orf140,upstream_gene_variant,,ENST00000410005,;SMIM11,non_coding_transcript_exon_variant,,ENST00000481710,;SMIM11,intron_variant,,ENST00000495363,;SMIM11,downstream_gene_variant,,ENST00000489469,;	.	31	18	SUCCESS
HMGN1	3150	.	GRCh37	21	40714867	40714867	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs887476854	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	15	0	ENST00000380749.5:c.*171del			ENST00000380749	NM_004965.6			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33559.1	.	INDELOCATOR|VARSCANI	.	CCTCTTAAAAAA	NONE	.	.	.	.	.	ENSP00000370125	.	6/6	.	.	.	.	.	.	.	.	COSM1734459	6/6	PASS	ENST00000380749	Transcript	.	.	ENSG00000205581	4984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	1	.	.	.	.	.	1	HMGN1_HUMAN	HMGN1	HGNC	.	.	UPI0000047514	deletion	HMGN1,frameshift_variant,p.Leu122Ter,ENST00000361263,;HMGN1,3_prime_UTR_variant,,ENST00000380748,;HMGN1,3_prime_UTR_variant,,ENST00000380749,;HMGN1,3_prime_UTR_variant,,ENST00000380747,;snoU13,downstream_gene_variant,,ENST00000459446,;Y_RNA,upstream_gene_variant,,ENST00000517106,;HMGN1,non_coding_transcript_exon_variant,,ENST00000485550,;HMGN1,non_coding_transcript_exon_variant,,ENST00000489072,;HMGN1,non_coding_transcript_exon_variant,,ENST00000482192,;HMGN1,downstream_gene_variant,,ENST00000490032,;HMGN1,downstream_gene_variant,,ENST00000479586,;HMGN1,downstream_gene_variant,,ENST00000471260,;HMGN1,downstream_gene_variant,,ENST00000491183,;HMGN1,3_prime_UTR_variant,,ENST00000419378,;HMGN1,3_prime_UTR_variant,,ENST00000288344,;HMGN1,3_prime_UTR_variant,,ENST00000436324,;HMGN1,3_prime_UTR_variant,,ENST00000431390,;HMGN1,non_coding_transcript_exon_variant,,ENST00000492280,;HMGN1,non_coding_transcript_exon_variant,,ENST00000486741,;HMGN1,downstream_gene_variant,,ENST00000464078,;HMGN1,downstream_gene_variant,,ENST00000443046,;	757	15	26	SUCCESS
SLC19A1	6573	.	GRCh37	21	46934730	46934730	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	9	22	0	ENST00000311124.4:c.*842G>A			ENST00000311124	NM_194255.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13725.1	.	RADIA|MUTECT|MUSE	.	GAGGCCGCTGG	NONE	.	.	.	.	.	ENSP00000308895	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000311124	Transcript	.	.	ENSG00000173638	10937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S19A1_HUMAN	SLC19A1	HGNC	E9PIL5_HUMAN,D3DSM6_HUMAN,C9JKP4_HUMAN,C9J8K6_HUMAN	.	UPI000012AA0F	SNV	SLC19A1,3_prime_UTR_variant,,ENST00000311124,;SLC19A1,3_prime_UTR_variant,,ENST00000380010,;SLC19A1,intron_variant,,ENST00000567670,;SLC19A1,intron_variant,,ENST00000417954,;COL18A1,downstream_gene_variant,,ENST00000359759,;COL18A1,downstream_gene_variant,,ENST00000355480,;COL18A1,downstream_gene_variant,,ENST00000423214,;SLC19A1,downstream_gene_variant,,ENST00000485649,;COL18A1,downstream_gene_variant,,ENST00000342220,;COL18A1,downstream_gene_variant,,ENST00000400337,;SLC19A1,intron_variant,,ENST00000468508,;SLC19A1,intron_variant,,ENST00000460174,;COL18A1,downstream_gene_variant,,ENST00000473212,;	2771	22	11	SUCCESS
CECR2	27443	.	GRCh37	22	18022519	18022519	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs1292384319	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	67	115	0				ENST00000342247		875		0	.	.	.	.	.	T	C/F	protein_coding	YES	.	2624	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCTGCCCCC	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF123	.	.	ENSP00000262608	.	15/18	.	.	.	.	.	.	.	.	.	15/18	PASS	ENST00000262608	Transcript	.	.	ENSG00000099954	1840	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.966)	.	deleterious_low_confidence(0)	.	CECR2_HUMAN	CECR2	HGNC	.	.	UPI0001AE62C8	SNV	CECR2,missense_variant,p.Cys874Phe,ENST00000400573,;CECR2,missense_variant,p.Cys733Phe,ENST00000400585,;CECR2,missense_variant,p.Cys875Phe,ENST00000262608,;CECR2,downstream_gene_variant,,ENST00000342247,;	2624	115	133	SUCCESS
RIMBP3C	150221	.	GRCh37	22	21900211	21900211	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	455	177	606	1	ENST00000433039.1:c.*135A>G			ENST00000433039	NM_001128633.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGTTTAAC	NONE	.	.	.	.	.	ENSP00000390630	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000433039	Transcript	.	.	ENSG00000183246	33892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIM3C_HUMAN	RIMBP3C	HGNC	J3KP16_HUMAN	.	UPI0000237947	SNV	RIMBP3C,3_prime_UTR_variant,,ENST00000433039,;RIMBP3C,3_prime_UTR_variant,,ENST00000331505,;UBE2L3,upstream_gene_variant,,ENST00000458578,;SCARNA17,downstream_gene_variant,,ENST00000516334,;SCARNA18,downstream_gene_variant,,ENST00000516796,;RN7SKP221,upstream_gene_variant,,ENST00000410420,;	5540	608	633	SUCCESS
RNF185	91445	.	GRCh37	22	31600619	31600619	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs768811994	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	17	0	ENST00000326132.6:c.*47G>A			ENST00000326132	NM_152267.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13890.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTGACGTGCCA	NONE	.	.	.	.	.	ENSP00000320508	.	7/7	.	.	.	.	.	.	.	.	rs768811994	7/7	PASS	ENST00000326132	Transcript	.	.	ENSG00000138942	26783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RN185_HUMAN	RNF185	HGNC	.	.	UPI0000036022	SNV	RNF185,3_prime_UTR_variant,,ENST00000266252,;RNF185,3_prime_UTR_variant,,ENST00000326132,;RNF185,3_prime_UTR_variant,,ENST00000426256,;RNF185-AS1,downstream_gene_variant,,ENST00000526089,;RNF185,3_prime_UTR_variant,,ENST00000518626,;RNF185,non_coding_transcript_exon_variant,,ENST00000471384,;RNF185,downstream_gene_variant,,ENST00000494514,;	785	17	22	SUCCESS
ELFN2	114794	.	GRCh37	22	37769104	37769104	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	rs550103003	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	65	0	ENST00000402918.2:c.*8del			ENST00000402918	NM_052906.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33642.1	.	INDELOCATOR|VARSCANI	.	GAGGAAGGGGGG	NONE	.	.	.	.	.	ENSP00000385277	.	3/3	.	.	.	.	.	.	.	.	rs768670879	3/3	PASS	ENST00000402918	Transcript	.	.	ENSG00000166897	29396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR29_HUMAN	ELFN2	HGNC	.	.	UPI000004E87D	deletion	ELFN2,3_prime_UTR_variant,,ENST00000402918,;RP1-63G5.5,intron_variant,,ENST00000430883,;RP1-63G5.5,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000424973,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000451509,;	3257	65	44	SUCCESS
CCDC134	79879	.	GRCh37	22	42221953	42221953	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	52	0	ENST00000255784.5:c.*126G>A			ENST00000255784	NM_024821.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33654.1	.	MUTECT|MUSE	.	GCCCGGCCCCC	NONE	.	.	.	.	.	ENSP00000255784	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000255784	Transcript	.	.	ENSG00000100147	26185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC134_HUMAN	CCDC134	HGNC	.	.	UPI000007311E	SNV	CCDC134,3_prime_UTR_variant,,ENST00000255784,;CCDC134,downstream_gene_variant,,ENST00000402061,;	920	52	51	SUCCESS
MCAT	27349	.	GRCh37	22	43528981	43528981	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs114481135	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	44	0	ENST00000290429.6:c.*68G>A			ENST00000290429	NM_173467.4			0	.	T:0.0303	.	T:0.0014	.	T	.	protein_coding	YES	CCDS33660.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCGACAG	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000290429	T:0	4/4	.	.	.	.	.	.	.	.	rs114481135	4/4	PASS	ENST00000290429	Transcript	.	T:0.0082	ENSG00000100294	29622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	FABD_HUMAN	MCAT	HGNC	.	.	UPI000003B003	SNV	MCAT,3_prime_UTR_variant,,ENST00000290429,;MCAT,3_prime_UTR_variant,,ENST00000327555,;BIK,downstream_gene_variant,,ENST00000216115,;	1287	44	40	SUCCESS
PAX8	7849	.	GRCh37	2	113976183	113976186	+	downstream_gene_variant	3'Flank	DEL	GAAC	GAAC	AAA	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	GAAC	GAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	48	11	52	0				ENST00000263334		426		0	.	.	.	.	.	AAA	SS/IX	protein_coding	YES	CCDS46398.1	1277-1280	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|MUSE*|VARSCANS*	.	TATGGGGAACCTGGA	NONE	.	.	Low_complexity_(Seg):seg,Pfam_domain:PF12403,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF10	.	.	ENSP00000395498	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000429538	Transcript	.	.	ENSG00000125618	8622	.	.	HIGH	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	PAX8_HUMAN	PAX8	HGNC	R9W7C9_HUMAN	.	UPI0000071DEC	substitution	PAX8,frameshift_variant,p.Ser149IlefsTer?,ENST00000468980,;PAX8,frameshift_variant,p.Ser426IlefsTer35,ENST00000429538,;PAX8,splice_region_variant,,ENST00000348715,;PAX8,splice_region_variant,,ENST00000465084,;PAX8,splice_region_variant,,ENST00000263335,;PAX8,splice_region_variant,,ENST00000397647,;PAX8,downstream_gene_variant,,ENST00000263334,;PAX8-AS1,intron_variant,,ENST00000456685,;PAX8,splice_region_variant,,ENST00000497038,;PAX8,splice_region_variant,,ENST00000480684,;	1472-1475	52	59	SUCCESS
B3GALT1	8708	.	GRCh37	2	168727229	168727229	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	48	133	0	ENST00000392690.3:c.*699T>C			ENST00000392690				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2227.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTTTCTT	NONE	.	.	.	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,3_prime_UTR_variant,,ENST00000305861,;B3GALT1,3_prime_UTR_variant,,ENST00000392690,;AC016723.4,intron_variant,,ENST00000436982,;AC016723.4,upstream_gene_variant,,ENST00000430546,;	1772	133	65	SUCCESS
SOX11	6664	.	GRCh37	2	5836958	5836958	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	45	0	ENST00000322002.3:c.*2779G>A			ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGCGCCG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	4160	45	43	SUCCESS
SOX11	6664	.	GRCh37	2	5839947	5839947	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs548654244	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	114	257	0	ENST00000322002.3:c.*5768T>C			ENST00000322002	NM_003108.3			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS1654.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTTCCATG	NONE	by1000G	.	.	C:0	.	ENSP00000322568	C:0	1/1	.	.	.	.	.	.	.	.	rs548654244	1/1	PASS	ENST00000322002	Transcript	.	C:0.0002	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	7149	257	262	SUCCESS
SOX11	6664	.	GRCh37	2	5840055	5840055	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	7	221	0	ENST00000322002.3:c.*5876A>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	MUTECT|MUSE	.	ATAAAAGCACA	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	7257	221	214	SUCCESS
SOX11	6664	.	GRCh37	2	5840802	5840802	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs896501472	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	63	154	0	ENST00000322002.3:c.*6629del			ENST00000322002	NM_003108.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1654.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GACACCTTTTTT	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	deletion	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	8004	154	212	SUCCESS
MRPL35	51318	.	GRCh37	2	86437894	86437894	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	50	0	ENST00000337109.4:c.*103A>G			ENST00000337109	NM_016622.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1988.1	.	RADIA|MUTECT|MUSE	.	CAATGAATACG	NONE	.	.	.	.	.	ENSP00000338389	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000337109	Transcript	.	.	ENSG00000132313	14489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RM35_HUMAN	MRPL35	HGNC	.	.	UPI000004A028	SNV	MRPL35,3_prime_UTR_variant,,ENST00000337109,;MRPL35,3_prime_UTR_variant,,ENST00000605125,;MRPL35,intron_variant,,ENST00000409180,;MRPL35,intron_variant,,ENST00000254644,;REEP1,downstream_gene_variant,,ENST00000538924,;REEP1,downstream_gene_variant,,ENST00000541910,;REEP1,downstream_gene_variant,,ENST00000535845,;REEP1,downstream_gene_variant,,ENST00000165698,;	704	50	53	SUCCESS
LMAN2L	81562	.	GRCh37	2	97370575	97370575	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs960398803	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	34	0				ENST00000264963	NM_030805.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46365.1	.	MUTECT|MUSE	.	CAAGACGAGCA	NONE	.	1502	.	.	.	ENSP00000366280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377079	Transcript	.	.	ENSG00000114988	19263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMA2L_HUMAN	LMAN2L	HGNC	B4DI83_HUMAN	.	UPI000044099B	SNV	LMAN2L,downstream_gene_variant,,ENST00000426463,;LMAN2L,downstream_gene_variant,,ENST00000377079,;LMAN2L,downstream_gene_variant,,ENST00000537039,;LMAN2L,downstream_gene_variant,,ENST00000264963,;LMAN2L,downstream_gene_variant,,ENST00000534882,;FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;LMAN2L,downstream_gene_variant,,ENST00000440610,;LMAN2L,downstream_gene_variant,,ENST00000474494,;LMAN2L,downstream_gene_variant,,ENST00000449221,;LMAN2L,downstream_gene_variant,,ENST00000434524,;LMAN2L,downstream_gene_variant,,ENST00000434865,;LMAN2L,downstream_gene_variant,,ENST00000446780,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,downstream_gene_variant,,ENST00000424961,;FER1L5,downstream_gene_variant,,ENST00000436930,;FER1L5,downstream_gene_variant,,ENST00000397978,;	.	34	31	SUCCESS
MRPL30	51263	.	GRCh37	2	99812280	99812280	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	40	0	ENST00000338148.3:c.*112C>T			ENST00000338148	NM_145212.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2041.1	.	MUTECT|MUSE	.	GGTGGCTCACC	NONE	.	.	.	.	.	ENSP00000338057	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000338148	Transcript	.	.	ENSG00000185414	14036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RM30_HUMAN	MRPL30	HGNC	.	.	UPI000007110A	SNV	MRPL30,3_prime_UTR_variant,,ENST00000338148,;C2orf15,3_prime_UTR_variant,,ENST00000512183,;MRPL30,downstream_gene_variant,,ENST00000409145,;MRPL30,downstream_gene_variant,,ENST00000410042,;MRPL30,non_coding_transcript_exon_variant,,ENST00000465432,;MRPL30,downstream_gene_variant,,ENST00000473743,;MRPL30,3_prime_UTR_variant,,ENST00000409841,;C2orf15,intron_variant,,ENST00000424491,;	796	40	27	SUCCESS
NEK11	79858	.	GRCh37	3	131068626	131068626	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	21	66	0	ENST00000383366.4:c.*6T>C			ENST00000383366	NM_024800.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3069.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTATCAA	NONE	.	.	.	.	.	ENSP00000372857	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000383366	Transcript	.	.	ENSG00000114670	18593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEK11_HUMAN	NEK11	HGNC	.	.	UPI000013F25D	SNV	NEK11,3_prime_UTR_variant,,ENST00000383366,;NEK11,3_prime_UTR_variant,,ENST00000510769,;NEK11,3_prime_UTR_variant,,ENST00000412440,;NEK11,3_prime_UTR_variant,,ENST00000510688,;NEK11,3_prime_UTR_variant,,ENST00000429253,;NEK11,downstream_gene_variant,,ENST00000508196,;RP11-933H2.4,intron_variant,,ENST00000502521,;RP11-933H2.4,intron_variant,,ENST00000513905,;NEK11,3_prime_UTR_variant,,ENST00000514915,;NEK11,3_prime_UTR_variant,,ENST00000510474,;RP11-933H2.4,intron_variant,,ENST00000441345,;	2237	66	50	SUCCESS
SLC35G2	80723	.	GRCh37	3	136574590	136574590	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs772134735	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	158	103	311	0	ENST00000393079.3:c.*49C>T			ENST00000393079	NM_001097600.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3091.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGCCATTT	NONE	byFrequency	.	.	.	.	ENSP00000400839	.	2/2	.	.	.	.	.	.	.	.	rs772134735	2/2	PASS	ENST00000446465	Transcript	.	.	ENSG00000168917	28480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35G2_HUMAN	SLC35G2	HGNC	.	.	UPI000013EB08	SNV	SLC35G2,3_prime_UTR_variant,,ENST00000393079,;SLC35G2,3_prime_UTR_variant,,ENST00000446465,;RP11-85F14.5,intron_variant,,ENST00000474250,;RP11-85F14.5,intron_variant,,ENST00000470236,;RP11-85F14.5,intron_variant,,ENST00000461864,;	1916	311	262	SUCCESS
MED12L	116931	.	GRCh37	3	151150682	151150682	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	35	0	ENST00000474524.1:c.*96del			ENST00000474524	NM_053002.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33876.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTCCCTTTTTT	NONE	.	.	.	.	.	ENSP00000417235	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000474524	Transcript	.	.	ENSG00000144893	16050	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MD12L_HUMAN	MED12L	HGNC	.	.	UPI000020A46B	deletion	MED12L,3_prime_UTR_variant,,ENST00000474524,;MED12L,3_prime_UTR_variant,,ENST00000273432,;IGSF10,intron_variant,,ENST00000489791,;IGSF10,downstream_gene_variant,,ENST00000282466,;IGSF10,intron_variant,,ENST00000497472,;MED12L,downstream_gene_variant,,ENST00000488092,;IGSF10,downstream_gene_variant,,ENST00000495443,;IGSF10,downstream_gene_variant,,ENST00000493841,;	6566	35	34	SUCCESS
CHL1	10752	.	GRCh37	3	447547	447547	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	8	0	ENST00000397491.2:c.*153A>G			ENST00000397491				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2556.1	.	MUTECT|MUSE	.	GTAGTACTTTC	NONE	.	.	.	.	.	ENSP00000256509	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,3_prime_UTR_variant,,ENST00000397491,;CHL1,3_prime_UTR_variant,,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000445697,;	4470	8	12	SUCCESS
PPM1M	132160	.	GRCh37	3	52283447	52283447	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	17	31	0	ENST00000296487.4:c.*48G>A			ENST00000296487				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46840.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCAGGATCA	NONE	.	.	.	.	.	ENSP00000387046	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409502	Transcript	.	.	ENSG00000164088	26506	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPM1M_HUMAN	PPM1M	HGNC	.	.	UPI000006FA2C	SNV	PPM1M,3_prime_UTR_variant,,ENST00000296487,;PPM1M,intron_variant,,ENST00000457351,;PPM1M,intron_variant,,ENST00000323588,;PPM1M,intron_variant,,ENST00000409502,;PPM1M,intron_variant,,ENST00000443681,;WDR82,downstream_gene_variant,,ENST00000296490,;PPM1M,downstream_gene_variant,,ENST00000457454,;PPM1M,intron_variant,,ENST00000482724,;PPM1M,intron_variant,,ENST00000467471,;PPM1M,intron_variant,,ENST00000489606,;PPM1M,downstream_gene_variant,,ENST00000472955,;	.	31	37	SUCCESS
TMEM110	0	.	GRCh37	3	52874427	52874427	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	20	0	ENST00000355083.5:c.*83T>C			ENST00000355083	NM_198563.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2866.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAGGGTA	NONE	.	.	.	.	.	ENSP00000347195	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000355083	Transcript	.	.	ENSG00000213533	30526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM110_HUMAN	TMEM110	HGNC	.	.	UPI000000DB9A	SNV	TMEM110,3_prime_UTR_variant,,ENST00000355083,;TMEM110,intron_variant,,ENST00000482155,;TMEM110-MUSTN1,intron_variant,,ENST00000514466,;TMEM110-MUSTN1,intron_variant,,ENST00000504329,;TMEM110,non_coding_transcript_exon_variant,,ENST00000464769,;TMEM110,non_coding_transcript_exon_variant,,ENST00000477591,;TMEM110-MUSTN1,upstream_gene_variant,,ENST00000495552,;RP5-966M1.6,upstream_gene_variant,,ENST00000468472,;	1114	20	29	SUCCESS
SELK	0	.	GRCh37	3	53919492	53919492	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs997009322	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	28	0	ENST00000495461.1:c.*93A>G			ENST00000495461				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54597.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCATCTACT	NONE	.	.	.	.	.	ENSP00000418813	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000495461	Transcript	.	.	ENSG00000113811	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELK_HUMAN	SELK	Uniprot_gn	A8K0M9_HUMAN	.	UPI0000163E13	SNV	SELK,3_prime_UTR_variant,,ENST00000541726,;SELK,3_prime_UTR_variant,,ENST00000495461,;ACTR8,upstream_gene_variant,,ENST00000498740,;ACTR8,upstream_gene_variant,,ENST00000335754,;ACTR8,upstream_gene_variant,,ENST00000482349,;AC012467.1,upstream_gene_variant,,ENST00000410956,;SELK,downstream_gene_variant,,ENST00000485414,;SELK,3_prime_UTR_variant,,ENST00000488746,;SELK,downstream_gene_variant,,ENST00000487571,;	578	28	29	SUCCESS
PRDM5	11107	.	GRCh37	4	121616205	121616206	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	42	0	ENST00000264808.3:c.*60dup			ENST00000264808	NM_018699.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3716.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGATAAAAA	NONE	.	.	.	.	.	ENSP00000264808	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000264808	Transcript	1	.	ENSG00000138738	9349	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRDM5_HUMAN	PRDM5	HGNC	.	.	UPI000013D572	insertion	PRDM5,3_prime_UTR_variant,,ENST00000428209,;PRDM5,3_prime_UTR_variant,,ENST00000264808,;PRDM5,3_prime_UTR_variant,,ENST00000515109,;PRDM5,intron_variant,,ENST00000513741,;PRDM5,downstream_gene_variant,,ENST00000506065,;PRDM5,downstream_gene_variant,,ENST00000505484,;	2194-2195	42	52	SUCCESS
GYPA	2993	.	GRCh37	4	145032367	145032367	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	28	0	ENST00000360771.4:c.*180del			ENST00000360771	NM_002099.6			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34069.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGAGATTTTTT	NONE	.	.	.	.	.	ENSP00000354003	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360771	Transcript	1	.	ENSG00000170180	4702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLPA_HUMAN	GYPA	HGNC	Q9UE44_HUMAN,Q14438_HUMAN	.	UPI000016A9B9	deletion	GYPA,3_prime_UTR_variant,,ENST00000360771,;GYPA,3_prime_UTR_variant,,ENST00000324022,;GYPB,intron_variant,,ENST00000283126,;GYPA,downstream_gene_variant,,ENST00000512789,;GYPA,downstream_gene_variant,,ENST00000535709,;GYPA,downstream_gene_variant,,ENST00000504786,;GYPA,downstream_gene_variant,,ENST00000503627,;GYPA,downstream_gene_variant,,ENST00000512064,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPA,non_coding_transcript_exon_variant,,ENST00000510771,;GYPA,downstream_gene_variant,,ENST00000508337,;	749	28	30	SUCCESS
CD38	952	.	GRCh37	4	15850369	15850369	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	21	0	ENST00000226279.3:c.*144C>T			ENST00000226279	NM_001775.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3417.1	.	RADIA|MUTECT|MUSE	.	TTTTCCCCAAA	NONE	.	.	.	.	.	ENSP00000226279	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000226279	Transcript	.	.	ENSG00000004468	1667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD38_HUMAN	CD38	HGNC	Q4FCX6_HUMAN,B4DMR7_HUMAN	.	UPI00000739C2	SNV	CD38,3_prime_UTR_variant,,ENST00000226279,;CD38,3_prime_UTR_variant,,ENST00000502843,;	1184	21	13	SUCCESS
KLHL2	11275	.	GRCh37	4	166243340	166243340	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs559604814	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	19	0	ENST00000226725.6:c.*128G>A			ENST00000226725	NM_007246.3			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS54815.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGATCGTCTGC	NONE	by1000G	.	.	A:0	.	ENSP00000424198	A:0	15/15	.	.	.	.	.	.	.	.	rs559604814	15/15	PASS	ENST00000514860	Transcript	.	A:0.0002	ENSG00000109466	6353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	KLHL2_HUMAN	KLHL2	HGNC	D6RGC3_HUMAN,B4DFZ5_HUMAN	.	UPI0000E20649	SNV	KLHL2,3_prime_UTR_variant,,ENST00000514860,;KLHL2,3_prime_UTR_variant,,ENST00000226725,;KLHL2,3_prime_UTR_variant,,ENST00000506761,;KLHL2,3_prime_UTR_variant,,ENST00000538127,;KLHL2,3_prime_UTR_variant,,ENST00000421009,;KLHL2,non_coding_transcript_exon_variant,,ENST00000509028,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	2172	19	25	SUCCESS
WHSC1	0	.	GRCh37	4	1980852	1980852	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1420204547	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	13	0	ENST00000382895.3:c.*216G>A			ENST00000382895	NM_133330.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33940.1	.	MUTECT|MUSE	.	TCAGCGTTCCT	NONE	.	.	.	.	.	ENSP00000372351	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,3_prime_UTR_variant,,ENST00000382892,;WHSC1,3_prime_UTR_variant,,ENST00000382895,;WHSC1,3_prime_UTR_variant,,ENST00000382891,;WHSC1,downstream_gene_variant,,ENST00000508803,;WHSC1,downstream_gene_variant,,ENST00000382888,;NELFA,downstream_gene_variant,,ENST00000411638,;NELFA,downstream_gene_variant,,ENST00000416258,;NELFA,downstream_gene_variant,,ENST00000542778,;NELFA,downstream_gene_variant,,ENST00000382882,;SCARNA22,downstream_gene_variant,,ENST00000503991,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;NELFA,downstream_gene_variant,,ENST00000333877,;NELFA,downstream_gene_variant,,ENST00000463820,;NELFA,downstream_gene_variant,,ENST00000467661,;WHSC1,downstream_gene_variant,,ENST00000508299,;WHSC1,downstream_gene_variant,,ENST00000515695,;	4745	13	11	SUCCESS
PDE6B	5158	.	GRCh37	4	663996	663997	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	39	0	ENST00000496514.1:c.*104dup			ENST00000496514				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33932.1	.	INDELOCATOR*|PINDEL	.	CCCAAGAAAAT	NONE	.	.	.	.	.	ENSP00000420295	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000496514	Transcript	1	.	ENSG00000133256	8786	4	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE6B_HUMAN	PDE6B	HGNC	H7C4P9_HUMAN,C9J628_HUMAN	.	UPI0000DBEE72	insertion	PDE6B,frameshift_variant,p.Ter150MetfsTer?,ENST00000461490,;PDE6B,3_prime_UTR_variant,,ENST00000429163,;PDE6B,3_prime_UTR_variant,,ENST00000496514,;PDE6B,3_prime_UTR_variant,,ENST00000255622,;MYL5,upstream_gene_variant,,ENST00000511290,;PDE6B,downstream_gene_variant,,ENST00000471824,;MYL5,upstream_gene_variant,,ENST00000506838,;ATP5I,downstream_gene_variant,,ENST00000304312,;MYL5,upstream_gene_variant,,ENST00000505477,;ATP5I,downstream_gene_variant,,ENST00000506525,;ATP5I,downstream_gene_variant,,ENST00000505852,;MYL5,upstream_gene_variant,,ENST00000502720,;ATP5I,downstream_gene_variant,,ENST00000515202,;MYL5,upstream_gene_variant,,ENST00000503300,;ATP5I,downstream_gene_variant,,ENST00000515116,;	2686-2687	39	34	SUCCESS
ADAMTS19	171019	.	GRCh37	5	129072962	129072963	+	3_prime_UTR_variant	3'UTR	INS	-	-	AC	rs747851080	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	41	22	75	0	ENST00000274487.4:c.*60_*61dup			ENST00000274487	NM_133638.3			0	.	.	.	.	.	AC	.	protein_coding	YES	CCDS4146.1	.	INDELOCATOR|VARSCANI	.	TTATAAACACA	NONE	.	.	.	.	.	ENSP00000274487	.	23/23	.	.	.	.	.	.	.	.	rs747851080	23/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	10	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	insertion	ADAMTS19,3_prime_UTR_variant,,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,downstream_gene_variant,,ENST00000509467,;	3820-3821	75	63	SUCCESS
ATP6V0E1	8992	.	GRCh37	5	172410766	172410766	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	20	0				ENST00000517669				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4383.1	.	MUTECT|MUSE	.	GGAGGCGGGGC	NONE	.	.	.	.	.	ENSP00000429690	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000519374	Transcript	.	.	ENSG00000113732	863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VA0E1_HUMAN	ATP6V0E1	HGNC	.	.	UPI0000049CBD	SNV	ATP6V0E1,5_prime_UTR_variant,,ENST00000519374,;ATP6V0E1,upstream_gene_variant,,ENST00000265093,;ATP6V0E1,upstream_gene_variant,,ENST00000517669,;ATP6V0E1,upstream_gene_variant,,ENST00000519911,;CTC-308K20.4,upstream_gene_variant,,ENST00000521201,;	7	20	8	SUCCESS
HRH2	3274	.	GRCh37	5	175111511	175111511	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	62	0	ENST00000231683.2:c.*195A>G			ENST00000231683	NM_022304.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47344.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCACATTA	NONE	.	.	.	.	.	ENSP00000366506	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377291	Transcript	.	.	ENSG00000113749	5183	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH2_HUMAN	HRH2	HGNC	.	.	UPI00001B2326	SNV	HRH2,3_prime_UTR_variant,,ENST00000231683,;HRH2,intron_variant,,ENST00000377291,;	.	62	65	SUCCESS
ZFP2	80108	.	GRCh37	5	178359758	178359758	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	44	130	0	ENST00000361362.2:c.*58A>G			ENST00000361362	NM_030613.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4440.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGACATAC	NONE	.	.	.	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,3_prime_UTR_variant,,ENST00000520301,;ZFP2,3_prime_UTR_variant,,ENST00000503510,;ZFP2,3_prime_UTR_variant,,ENST00000361362,;ZFP2,3_prime_UTR_variant,,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1974	130	112	SUCCESS
NPR3	4883	.	GRCh37	5	32790794	32790794	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	13	48	0	ENST00000265074.8:c.*4343A>G			ENST00000265074	NM_001204375.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56357.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCAAATTT	NONE	.	.	.	.	.	ENSP00000265074	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,3_prime_UTR_variant,,ENST00000265074,;AC026703.1,3_prime_UTR_variant,,ENST00000326958,;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415167,;NPR3,downstream_gene_variant,,ENST00000415685,;	6312	48	48	SUCCESS
ZFYVE16	9765	.	GRCh37	5	79773294	79773294	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	19	0	ENST00000338008.5:c.*98T>A			ENST00000338008	NM_014733.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4050.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGTCTGAT	NONE	.	.	.	.	.	ENSP00000337159	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000338008	Transcript	.	.	ENSG00000039319	20756	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY16_HUMAN	ZFYVE16	HGNC	B3KXA7_HUMAN	.	UPI000013F4A0	SNV	ZFYVE16,3_prime_UTR_variant,,ENST00000338008,;ZFYVE16,3_prime_UTR_variant,,ENST00000505560,;ZFYVE16,3_prime_UTR_variant,,ENST00000510158,;CTD-2015H6.3,downstream_gene_variant,,ENST00000508000,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000511829,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512907,;ZFYVE16,downstream_gene_variant,,ENST00000513789,;	4898	19	29	SUCCESS
NR2F1	7025	.	GRCh37	5	92929557	92929557	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs202006298	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	63	0	ENST00000327111.3:c.*9C>T			ENST00000327111	NM_005654.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4068.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGCGCTTC	NONE	byCluster	.	.	.	.	ENSP00000325819	.	3/3	.	.	.	.	.	.	.	.	rs202006298	3/3	PASS	ENST00000327111	Transcript	1	.	ENSG00000175745	7975	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COT1_HUMAN	NR2F1	HGNC	.	.	UPI0000000C58	SNV	NR2F1,3_prime_UTR_variant,,ENST00000327111,;NR2F1,non_coding_transcript_exon_variant,,ENST00000506162,;	2968	63	67	SUCCESS
VNN3	55350	.	GRCh37	6	133055870	133055870	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	59	126	0				ENST00000427187				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATTCTTAC	NONE	.	39	.	.	.	ENSP00000444491	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427187	Transcript	.	.	ENSG00000093134	16431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VNN3_HUMAN	VNN3	HGNC	A0AUL5_HUMAN	.	UPI0001737A7C	SNV	VNN3,5_prime_UTR_variant,,ENST00000392393,;VNN3,5_prime_UTR_variant,,ENST00000425515,;VNN3,5_prime_UTR_variant,,ENST00000450865,;VNN3,5_prime_UTR_variant,,ENST00000392394,;VNN3,5_prime_UTR_variant,,ENST00000367927,;VNN3,5_prime_UTR_variant,,ENST00000207771,;VNN3,upstream_gene_variant,,ENST00000414302,;VNN3,upstream_gene_variant,,ENST00000427187,;VNN3,upstream_gene_variant,,ENST00000275223,;VNN3,upstream_gene_variant,,ENST00000509351,;VNN3,upstream_gene_variant,,ENST00000519686,;VNN3,upstream_gene_variant,,ENST00000423615,;VNN3,upstream_gene_variant,,ENST00000544102,;VNN3,upstream_gene_variant,,ENST00000417437,;VNN3,upstream_gene_variant,,ENST00000580813,;VNN3,non_coding_transcript_exon_variant,,ENST00000448644,;	.	126	82	SUCCESS
GPR126	0	.	GRCh37	6	142764795	142764796	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	27	0	ENST00000230173.6:c.*278dup			ENST00000230173	NM_020455.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47489.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGAAATTCAG	NONE	.	.	.	.	.	ENSP00000356581	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000367609	Transcript	.	.	ENSG00000112414	13841	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GP126_HUMAN	GPR126	HGNC	F5H2L1_HUMAN	.	UPI000022CCE4	insertion	GPR126,3_prime_UTR_variant,,ENST00000367609,;GPR126,3_prime_UTR_variant,,ENST00000296932,;GPR126,3_prime_UTR_variant,,ENST00000367608,;GPR126,3_prime_UTR_variant,,ENST00000230173,;GPR126,non_coding_transcript_exon_variant,,ENST00000497898,;GPR126,non_coding_transcript_exon_variant,,ENST00000472054,;	4297-4298	27	22	SUCCESS
STXBP5	134957	.	GRCh37	6	147706163	147706163	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	33	0				ENST00000321680	NM_001127715.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCTGCTG	NONE	.	272	.	.	.	ENSP00000321826	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,3_prime_UTR_variant,,ENST00000179882,;STXBP5,3_prime_UTR_variant,,ENST00000367481,;STXBP5,downstream_gene_variant,,ENST00000321680,;STXBP5,downstream_gene_variant,,ENST00000367480,;RP11-361F15.2,upstream_gene_variant,,ENST00000443556,;	.	33	17	SUCCESS
E2F3	1871	.	GRCh37	6	20490697	20490697	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	71	0	ENST00000346618.3:c.*42del			ENST00000346618	NM_001949.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4545.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGATATTTTTT	NONE	.	.	.	.	.	ENSP00000262904	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000346618	Transcript	.	.	ENSG00000112242	3115	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	E2F3_HUMAN	E2F3	HGNC	Q24JQ3_HUMAN	.	UPI0000129AC2	deletion	E2F3,3_prime_UTR_variant,,ENST00000535432,;E2F3,3_prime_UTR_variant,,ENST00000346618,;	1500	71	81	SUCCESS
SOX4	6659	.	GRCh37	6	21597747	21597753	+	3_prime_UTR_variant	3'UTR	DEL	TTTTTTC	TTTTTTC	-	rs1354245346	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	TTTTTTC	TTTTTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	71	0	ENST00000244745.1:c.*1563_*1569del			ENST00000244745	NM_003107.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4547.1	.	INDELOCATOR|VARSCANI	.	TCTTTTTTTTTTCTTTTT	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	deletion	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;RP3-322L4.2,upstream_gene_variant,,ENST00000404566,;	3776-3782	72	53	SUCCESS
HIST1H2BK	0	.	GRCh37	6	27107217	27107217	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	192	35	182	0	ENST00000396891.4:c.*10-757C>T			ENST00000396891	NM_080593.2	44		0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS4620.1	130	RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGTGAAG	NONE	.	.	hmmpanther:PTHR10484,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00803,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623	.	.	ENSP00000346316	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354348	Transcript	.	.	ENSG00000198339	4793	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.994)	.	deleterious_low_confidence(0.02)	.	H4_HUMAN	HIST1H4I	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4I,missense_variant,p.Val44Met,ENST00000354348,;HIST1H2BK,intron_variant,,ENST00000396891,;HIST1H2AG,downstream_gene_variant,,ENST00000359193,;	142	182	227	SUCCESS
MDC1	9656	.	GRCh37	6	30668004	30668004	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	22	0	ENST00000376406.3:c.*238A>T			ENST00000376406	NM_014641.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34384.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATAAAAA	NONE	.	.	.	.	.	ENSP00000365588	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000376406	Transcript	.	.	ENSG00000137337	21163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MDC1_HUMAN	MDC1	HGNC	A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN	.	UPI00001AF453	SNV	MDC1,3_prime_UTR_variant,,ENST00000376406,;MDC1,3_prime_UTR_variant,,ENST00000376405,;MDC1-AS1,upstream_gene_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000489540,;RPL7P4,upstream_gene_variant,,ENST00000430239,;	7156	22	23	SUCCESS
ATP6V1G2-DDX39B	100532737	.	GRCh37	6	31507027	31507027	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	A	.	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	44	82	0	ENST00000376185.1:c.*450C>T			ENST00000376185		79		0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4697.1	236	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGGCCTGA	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF204,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487	.	.	ENSP00000379475	.	3/11	.	.	.	.	.	.	.	.	COSM137910	3/11	PASS	ENST00000396172	Transcript	.	.	ENSG00000198563	13917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.706)	.	deleterious(0.03)	1	DX39B_HUMAN	DDX39B	HGNC	Q7KYK3_HUMAN,F6WLT2_HUMAN,F6UN21_HUMAN,F6U6E2_HUMAN,F6TRA5_HUMAN,F6S4E6_HUMAN,F6QWI5_HUMAN	.	UPI0000001D0B	SNV	DDX39B,missense_variant,p.Ala79Val,ENST00000417556,;DDX39B,missense_variant,p.Ala79Val,ENST00000456976,;DDX39B,missense_variant,p.Ala79Val,ENST00000427214,;DDX39B,missense_variant,p.Ala79Val,ENST00000456662,;DDX39B,missense_variant,p.Ala79Val,ENST00000458640,;DDX39B,missense_variant,p.Ala79Val,ENST00000449074,;DDX39B,missense_variant,p.Ala79Val,ENST00000396172,;DDX39B,missense_variant,p.Ala102Val,ENST00000449757,;DDX39B,missense_variant,p.Ala79Val,ENST00000419020,;DDX39B,missense_variant,p.Ala79Val,ENST00000419338,;DDX39B,missense_variant,p.Ala79Val,ENST00000428450,;DDX39B,missense_variant,p.Ala94Val,ENST00000418897,;DDX39B,missense_variant,p.Ala79Val,ENST00000428098,;DDX39B,missense_variant,p.Ala79Val,ENST00000376177,;DDX39B,intron_variant,,ENST00000431908,;DDX39B,intron_variant,,ENST00000415382,;DDX39B,intron_variant,,ENST00000453105,;DDX39B,upstream_gene_variant,,ENST00000417023,;SNORD117,upstream_gene_variant,,ENST00000364915,;SNORD84,downstream_gene_variant,,ENST00000584275,;DDX39B-AS1,upstream_gene_variant,,ENST00000420520,;DDX39B-AS1,upstream_gene_variant,,ENST00000416684,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000475917,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,intron_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;	867	82	132	SUCCESS
ANKS1A	23294	.	GRCh37	6	35056409	35056409	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	53	0	ENST00000360359.3:c.*23C>A			ENST00000360359	NM_015245.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4798.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGCTGCGG	NONE	.	.	.	.	.	ENSP00000353518	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000360359	Transcript	.	.	ENSG00000064999	20961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANS1A_HUMAN	ANKS1A	HGNC	.	.	UPI00001C1E4D	SNV	ANKS1A,3_prime_UTR_variant,,ENST00000360359,;ANKS1A,intron_variant,,ENST00000535627,;	3566	53	91	SUCCESS
BRPF3	27154	.	GRCh37	6	36198408	36198408	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs770211524	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	6	173	0	ENST00000357641.6:c.*22C>T			ENST00000357641	NM_015695.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34437.1	.	MUTECT|MUSE	.	GCATCCGCTTG	NONE	byFrequency	.	.	.	.	ENSP00000350267	.	13/13	.	.	.	.	.	.	.	.	rs770211524	13/13	PASS	ENST00000357641	Transcript	.	.	ENSG00000096070	14256	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRPF3_HUMAN	BRPF3	HGNC	A8WI62_HUMAN,A8WI61_HUMAN	.	UPI00001C1E4C	SNV	BRPF3,3_prime_UTR_variant,,ENST00000443324,;BRPF3,3_prime_UTR_variant,,ENST00000357641,;BRPF3,3_prime_UTR_variant,,ENST00000534694,;BRPF3,3_prime_UTR_variant,,ENST00000543502,;BRPF3,3_prime_UTR_variant,,ENST00000339717,;BRPF3,3_prime_UTR_variant,,ENST00000534400,;BRPF3,3_prime_UTR_variant,,ENST00000441123,;BRPF3,3_prime_UTR_variant,,ENST00000441730,;BRPF3,3_prime_UTR_variant,,ENST00000449261,;BRPF3,3_prime_UTR_variant,,ENST00000532330,;	3893	173	91	SUCCESS
UNC5CL	222643	.	GRCh37	6	40996017	40996017	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	14	0	ENST00000244565.3:c.*95A>G			ENST00000244565	NM_173561.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4847.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGTGGGCA	NONE	.	.	.	.	.	ENSP00000244565	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244565	Transcript	.	.	ENSG00000124602	21203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN5CL_HUMAN	UNC5CL	HGNC	H8YHX0_HUMAN	.	UPI00001609DB	SNV	UNC5CL,3_prime_UTR_variant,,ENST00000244565,;UNC5CL,downstream_gene_variant,,ENST00000373164,;UNC5CL,downstream_gene_variant,,ENST00000470102,;	1741	14	36	SUCCESS
UNC5CL	222643	.	GRCh37	6	40996076	40996076	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1398817157	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	12	27	0	ENST00000244565.3:c.*36C>T			ENST00000244565	NM_173561.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4847.1	.	MUTECT|MUSE	.	CTCTCGCCCCT	NONE	.	.	.	.	.	ENSP00000244565	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000244565	Transcript	.	.	ENSG00000124602	21203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UN5CL_HUMAN	UNC5CL	HGNC	H8YHX0_HUMAN	.	UPI00001609DB	SNV	UNC5CL,3_prime_UTR_variant,,ENST00000244565,;UNC5CL,downstream_gene_variant,,ENST00000373164,;UNC5CL,downstream_gene_variant,,ENST00000470102,;	1682	27	94	SUCCESS
TRERF1	55809	.	GRCh37	6	42195939	42195939	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs961932976	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	14	0	ENST00000372922.4:c.*144del			ENST00000372922	NM_033502.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4867.1	.	INDELOCATOR|VARSCANI	.	ATAGGATTTTTT	NONE	.	.	.	.	.	ENSP00000362013	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	deletion	TRERF1,3_prime_UTR_variant,,ENST00000541110,;TRERF1,3_prime_UTR_variant,,ENST00000340840,;TRERF1,3_prime_UTR_variant,,ENST00000372922,;TRERF1,3_prime_UTR_variant,,ENST00000372917,;TRERF1,3_prime_UTR_variant,,ENST00000354325,;	4310	14	38	SUCCESS
C6orf141	135398	.	GRCh37	6	49519361	49519361	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	197	87	173	0	ENST00000371194.3:c.*121A>G			ENST00000371194				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCAGCGCT	NONE	.	.	.	.	.	ENSP00000434602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529246	Transcript	.	.	ENSG00000197261	21351	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF141_HUMAN	C6orf141	HGNC	.	.	UPI000013E9DC	SNV	C6orf141,3_prime_UTR_variant,,ENST00000529246,;C6orf141,intron_variant,,ENST00000424426,;C6orf141,3_prime_UTR_variant,,ENST00000415078,;C6orf141,3_prime_UTR_variant,,ENST00000414696,;C6orf141,3_prime_UTR_variant,,ENST00000371194,;C6orf141,upstream_gene_variant,,ENST00000530382,;C6orf141,upstream_gene_variant,,ENST00000526429,;	1249	173	285	SUCCESS
TXNDC5	81567	.	GRCh37	6	7883305	7883305	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	33	0	ENST00000379757.4:c.*72C>T			ENST00000379757	NM_030810.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4505.1	.	MUTECT|MUSE	.	CAGTGGCCTCT	NONE	.	.	.	.	.	ENSP00000369081	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000379757	Transcript	.	.	ENSG00000239264	21073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TXND5_HUMAN	TXNDC5	HGNC	Q6EHZ3_HUMAN,Q658S9_HUMAN	.	UPI0000048EC3	SNV	TXNDC5,3_prime_UTR_variant,,ENST00000539054,;TXNDC5,3_prime_UTR_variant,,ENST00000379757,;BMP6,downstream_gene_variant,,ENST00000283147,;TXNDC5,downstream_gene_variant,,ENST00000473453,;BLOC1S5-TXNDC5,3_prime_UTR_variant,,ENST00000439343,;TXNDC5,non_coding_transcript_exon_variant,,ENST00000460138,;TXNDC5,downstream_gene_variant,,ENST00000475802,;	1409	33	25	SUCCESS
CUX1	1523	.	GRCh37	7	101892400	101892400	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	21	0	ENST00000292535.7:c.*78A>G			ENST00000292535	NM_181552.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56498.1	.	MUTECT|MUSE	.	TGCGGACACCG	NONE	.	.	.	.	.	ENSP00000353401	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000360264	Transcript	.	.	ENSG00000257923	2557	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CUX1_HUMAN	CUX1	HGNC	.	.	UPI00001AEB98	SNV	CUX1,3_prime_UTR_variant,,ENST00000360264,;CUX1,3_prime_UTR_variant,,ENST00000292535,;CUX1,intron_variant,,ENST00000437600,;CUX1,intron_variant,,ENST00000547394,;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000425244,;CUX1,intron_variant,,ENST00000393824,;CUX1,downstream_gene_variant,,ENST00000546411,;CUX1,downstream_gene_variant,,ENST00000556210,;CUX1,downstream_gene_variant,,ENST00000549414,;CUX1,downstream_gene_variant,,ENST00000550008,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	4649	21	8	SUCCESS
NAA38	84316	.	GRCh37	7	117832158	117832158	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	52	0	ENST00000249299.2:c.*102T>A			ENST00000249299	NM_016200.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5775.1	.	MUTECT|MUSE	.	TTGACTCCTTA	NONE	.	.	.	.	.	ENSP00000249299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	SNV	NAA38,3_prime_UTR_variant,,ENST00000249299,;NAA38,3_prime_UTR_variant,,ENST00000424702,;NAA38,3_prime_UTR_variant,,ENST00000422760,;NAA38,downstream_gene_variant,,ENST00000411938,;	585	52	47	SUCCESS
ARL4A	10124	.	GRCh37	7	12729168	12729168	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	80	0				ENST00000356797				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTTACTTT	NONE	.	.	.	.	.	ENSP00000379898	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396663	Transcript	.	.	ENSG00000122644	695	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL4A_HUMAN	ARL4A	HGNC	C9J7Q9_HUMAN	.	UPI000005273E	SNV	ARL4A,3_prime_UTR_variant,,ENST00000396663,;ARL4A,downstream_gene_variant,,ENST00000404894,;ARL4A,downstream_gene_variant,,ENST00000396664,;ARL4A,downstream_gene_variant,,ENST00000396662,;ARL4A,downstream_gene_variant,,ENST00000439721,;ARL4A,downstream_gene_variant,,ENST00000356797,;CTD-2320J21.1,downstream_gene_variant,,ENST00000604949,;	1771	80	78	SUCCESS
AKR1B1	231	.	GRCh37	7	134127349	134127349	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1030468797	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	30	0	ENST00000285930.4:c.*131C>T			ENST00000285930	NM_001628.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5831.1	.	MUTECT|MUSE	.	GACACGCCCTC	NONE	.	.	.	.	.	ENSP00000285930	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000285930	Transcript	.	.	ENSG00000085662	381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALDR_HUMAN	AKR1B1	HGNC	O15289_HUMAN	.	UPI000000D78E	SNV	AKR1B1,3_prime_UTR_variant,,ENST00000285930,;AKR1B1,3_prime_UTR_variant,,ENST00000434222,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000465351,;AKR1B1,downstream_gene_variant,,ENST00000467251,;	1162	30	34	SUCCESS
GSTK1	373156	.	GRCh37	7	142965961	142965961	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs763335529	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	34	110	0	ENST00000358406.5:c.*37del			ENST00000358406	NM_015917.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47730.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCGTATAAAAAA	NONE	.	.	.	.	.	ENSP00000431049	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000479303	Transcript	.	.	ENSG00000197448	16906	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GSTK1_HUMAN	GSTK1	HGNC	.	.	UPI000022839D	deletion	GSTK1,3_prime_UTR_variant,,ENST00000409500,;GSTK1,3_prime_UTR_variant,,ENST00000443571,;GSTK1,3_prime_UTR_variant,,ENST00000479303,;GSTK1,3_prime_UTR_variant,,ENST00000358406,;GSTK1,downstream_gene_variant,,ENST00000436038,;AC073342.12,intron_variant,,ENST00000427392,;GSTK1,downstream_gene_variant,,ENST00000494735,;GSTK1,3_prime_UTR_variant,,ENST00000442394,;GSTK1,non_coding_transcript_exon_variant,,ENST00000473649,;GSTK1,downstream_gene_variant,,ENST00000489654,;	938	110	128	SUCCESS
ACTR3B	57180	.	GRCh37	7	152551777	152551777	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1427726127	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	11	0	ENST00000256001.8:c.*139C>T			ENST00000256001	NM_020445.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5934.1	.	MUTECT|MUSE	.	TGAGGCGCGGC	NONE	.	.	.	.	.	ENSP00000256001	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000256001	Transcript	.	.	ENSG00000133627	17256	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARP3B_HUMAN	ACTR3B	HGNC	C9J580_HUMAN,B3KM55_HUMAN	.	UPI0000073AC7	SNV	ACTR3B,3_prime_UTR_variant,,ENST00000537264,;ACTR3B,3_prime_UTR_variant,,ENST00000397282,;ACTR3B,3_prime_UTR_variant,,ENST00000377776,;ACTR3B,3_prime_UTR_variant,,ENST00000256001,;ACTR3B,non_coding_transcript_exon_variant,,ENST00000479402,;	1530	11	13	SUCCESS
CYTH3	9265	.	GRCh37	7	6204521	6204521	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs950859003	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	58	82	0	ENST00000396741.2:c.*54G>A			ENST00000396741				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5346.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGCGGTGT	NONE	.	.	.	.	.	ENSP00000297044	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000350796	Transcript	.	.	ENSG00000008256	9504	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYH3_HUMAN	CYTH3	HGNC	Q96HS5_HUMAN	.	UPI000002A7A1	SNV	CYTH3,3_prime_UTR_variant,,ENST00000396741,;CYTH3,3_prime_UTR_variant,,ENST00000350796,;USP42,downstream_gene_variant,,ENST00000306177,;CYTH3,non_coding_transcript_exon_variant,,ENST00000465320,;CYTH3,downstream_gene_variant,,ENST00000488964,;CYTH3,downstream_gene_variant,,ENST00000461891,;USP42,downstream_gene_variant,,ENST00000521713,;CYTH3,downstream_gene_variant,,ENST00000495176,;	1391	82	120	SUCCESS
MIR4650-2	100616331	.	GRCh37	7	72159738	72159738	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs781996061	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	77	170	0				ENST00000581927				0	.	.	.	.	.	T	.	miRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGGTCG	NONE	byFrequency	3136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781996061	.	PASS	ENST00000581927	Transcript	.	.	ENSG00000264494	41810	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MIR4650-2	HGNC	.	.	.	SNV	TYW1B,missense_variant,p.Arg108His,ENST00000343721,;MIR4650-2,upstream_gene_variant,,ENST00000581927,;TYW1B,non_coding_transcript_exon_variant,,ENST00000438125,;TYW1B,synonymous_variant,p.%3D,ENST00000435769,;	.	170	156	SUCCESS
ICA1	3382	.	GRCh37	7	8153369	8153369	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs192193648	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	9	0	ENST00000396675.3:c.*184G>A			ENST00000396675	NM_022307.2			0	.	T:0	.	T:0.0029	.	T	.	protein_coding	YES	CCDS34602.1	.	MUTECT|MUSE|VARSCANS	.	ATACACGAAAA	NONE	byFrequency|byCluster|by1000G	.	.	T:0.001	.	ENSP00000385570	T:0	14/14	.	.	.	.	.	.	.	.	rs192193648	14/14	PASS	ENST00000402384	Transcript	.	T:0.0006	ENSG00000003147	5343	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	ICA69_HUMAN	ICA1	HGNC	Q9UDQ6_HUMAN,F8WET5_HUMAN,C9J3Y4_HUMAN	.	UPI000012D139	SNV	ICA1,3_prime_UTR_variant,,ENST00000396675,;ICA1,3_prime_UTR_variant,,ENST00000265577,;ICA1,3_prime_UTR_variant,,ENST00000406470,;ICA1,3_prime_UTR_variant,,ENST00000402384,;ICA1,downstream_gene_variant,,ENST00000422063,;ICA1,downstream_gene_variant,,ENST00000401396,;AC006042.6,upstream_gene_variant,,ENST00000449931,;ICA1,downstream_gene_variant,,ENST00000455539,;ICA1,downstream_gene_variant,,ENST00000339809,;	1903	9	15	SUCCESS
KPNA7	402569	.	GRCh37	7	98771194	98771194	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs115667667	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	44	0				ENST00000327442	NM_001145715.1			0	.	A:0.0408	.	A:0.0014	.	A	.	protein_coding	YES	CCDS47651.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACGTGAAA	NONE	byFrequency|byCluster|by1000G	3	.	A:0	.	ENSP00000330878	A:0	.	.	.	.	.	.	.	.	.	rs115667667	.	PASS	ENST00000327442	Transcript	.	A:0.0110	ENSG00000185467	21839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	IMA8_HUMAN	KPNA7	HGNC	.	.	UPI00004193B5	SNV	KPNA7,downstream_gene_variant,,ENST00000327442,;	.	44	32	SUCCESS
COL22A1	169044	.	GRCh37	8	139601305	139601305	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	42	0	ENST00000303045.6:c.*191T>C			ENST00000303045	NM_152888.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6376.1	.	MUTECT|MUSE	.	ATCTGACCGAC	NONE	.	.	.	.	.	ENSP00000303153	.	65/65	.	.	.	.	.	.	.	.	.	65/65	PASS	ENST00000303045	Transcript	.	.	ENSG00000169436	22989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COMA1_HUMAN	COL22A1	HGNC	.	.	UPI00001C1EA1	SNV	COL22A1,3_prime_UTR_variant,,ENST00000303045,;COL22A1,3_prime_UTR_variant,,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	5519	42	34	SUCCESS
TUSC3	7991	.	GRCh37	8	15621757	15621757	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	406	262	639	0	ENST00000503731.1:c.*92T>C			ENST00000503731	NM_006765.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5994.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATGTTTACC	NONE	.	.	.	.	.	ENSP00000424544	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,3_prime_UTR_variant,,ENST00000506802,;TUSC3,3_prime_UTR_variant,,ENST00000382020,;TUSC3,3_prime_UTR_variant,,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000508446,;TUSC3,3_prime_UTR_variant,,ENST00000515859,;TUSC3,3_prime_UTR_variant,,ENST00000510836,;	1287	639	668	SUCCESS
KCTD9	54793	.	GRCh37	8	25287197	25287197	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs539804908	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	54	0	ENST00000221200.4:c.*176del			ENST00000221200	NM_017634.3			0	.	-:0.0008	.	-:0.0058	.	-	.	protein_coding	YES	CCDS6048.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATATGGAAAAAA	NONE	byFrequency|byCluster|by1000G	.	.	-:0	.	ENSP00000221200	-:0.0129	12/12	.	.	.	.	.	.	.	.	rs539804908	12/12	PASS	ENST00000221200	Transcript	.	-:0.0036	ENSG00000104756	22401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	-:0	.	.	KCTD9_HUMAN	KCTD9	HGNC	K7ENB5_HUMAN	.	UPI00001540AF	deletion	KCTD9,3_prime_UTR_variant,,ENST00000221200,;RP11-395I14.2,upstream_gene_variant,,ENST00000523840,;KCTD9,3_prime_UTR_variant,,ENST00000519665,;	1567	54	57	SUCCESS
PXDNL	137902	.	GRCh37	8	52232315	52232315	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	34	0	ENST00000356297.4:c.*136A>G			ENST00000356297	NM_144651.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47855.1	.	MUTECT|MUSE	.	ATATGTAAGAT	NONE	.	.	.	.	.	ENSP00000348645	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,3_prime_UTR_variant,,ENST00000543296,;PXDNL,3_prime_UTR_variant,,ENST00000522933,;PXDNL,3_prime_UTR_variant,,ENST00000356297,;RP11-401H2.1,intron_variant,,ENST00000521294,;PXDNL,3_prime_UTR_variant,,ENST00000522628,;PXDNL,downstream_gene_variant,,ENST00000519183,;	4629	34	29	SUCCESS
DCAF4L2	138009	.	GRCh37	8	88884172	88884173	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs528324612	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	27	0	ENST00000319675.3:c.*839dup			ENST00000319675	NM_152418.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6245.1	.	INDELOCATOR|VARSCANI	.	TTTTTGTTTTT	NONE	.	.	.	.	.	ENSP00000316496	.	1/1	.	.	.	.	.	.	.	.	rs528324612	1/1	PASS	ENST00000319675	Transcript	.	.	ENSG00000176566	26657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DC4L2_HUMAN	DCAF4L2	HGNC	Q8N7W3_HUMAN	.	UPI0000072860	insertion	DCAF4L2,3_prime_UTR_variant,,ENST00000319675,;	2124-2125	27	19	SUCCESS
PBX3	5090	.	GRCh37	9	128728299	128728299	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	19	53	0	ENST00000373489.5:c.*97G>A			ENST00000373489	NM_006195.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6865.1	.	MUTECT|MUSE	.	CTACAGCTTTA	NONE	.	.	.	.	.	ENSP00000362588	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000373489	Transcript	.	.	ENSG00000167081	8634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PBX3_HUMAN	PBX3	HGNC	U3KQA2_HUMAN	.	UPI00001313B3	SNV	PBX3,3_prime_UTR_variant,,ENST00000342287,;PBX3,3_prime_UTR_variant,,ENST00000447726,;PBX3,3_prime_UTR_variant,,ENST00000373487,;PBX3,3_prime_UTR_variant,,ENST00000373489,;PBX3,downstream_gene_variant,,ENST00000373483,;PBX3,downstream_gene_variant,,ENST00000538998,;PBX3,downstream_gene_variant,,ENST00000373482,;PBX3,downstream_gene_variant,,ENST00000373492,;	1418	53	37	SUCCESS
MRPS2	51116	.	GRCh37	9	138391839	138391839	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	15	0				ENST00000241600	NM_016034.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43899.1	.	MUTECT|MUSE	.	TGCCGGGCGAC	NONE	.	121	.	.	.	ENSP00000395281	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429260	Transcript	.	.	ENSG00000160345	28435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CI116_HUMAN	C9orf116	HGNC	.	.	UPI0000210EFC	SNV	C9orf116,5_prime_UTR_variant,,ENST00000371789,;MRPS2,5_prime_UTR_variant,,ENST00000371785,;C9orf116,intron_variant,,ENST00000371791,;C9orf116,upstream_gene_variant,,ENST00000419770,;MRPS2,upstream_gene_variant,,ENST00000453385,;MRPS2,upstream_gene_variant,,ENST00000241600,;C9orf116,upstream_gene_variant,,ENST00000429260,;RP11-426A6.5,downstream_gene_variant,,ENST00000415062,;MRPS2,upstream_gene_variant,,ENST00000488610,;MRPS2,upstream_gene_variant,,ENST00000472946,;MRPS2,upstream_gene_variant,,ENST00000472852,;MRPS2,upstream_gene_variant,,ENST00000462948,;MRPS2,upstream_gene_variant,,ENST00000485333,;C9orf116,upstream_gene_variant,,ENST00000371786,;	.	15	14	SUCCESS
TOR4A	54863	.	GRCh37	9	140174688	140174688	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	29	65	0	ENST00000357503.2:c.*278del			ENST00000357503	NM_017723.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7041.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGTGGCCCCAA	NONE	.	.	.	.	.	ENSP00000350102	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357503	Transcript	.	.	ENSG00000198113	25981	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TOR4A_HUMAN	TOR4A	HGNC	.	.	UPI00004577EC	deletion	TOR4A,3_prime_UTR_variant,,ENST00000357503,;	1743	65	94	SUCCESS
IFNB1	3456	.	GRCh37	9	21077155	21077155	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	10	31	0	ENST00000380232.2:c.*150del			ENST00000380232	NM_002176.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6495.1	.	INDELOCATOR*|PINDEL	.	ATAAATAAAAAT	NONE	.	.	.	.	.	ENSP00000369581	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380232	Transcript	.	.	ENSG00000171855	5434	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFNB_HUMAN	IFNB1	HGNC	Q5VWC9_HUMAN,B5BUQ5_HUMAN	.	UPI000004775D	deletion	IFNB1,3_prime_UTR_variant,,ENST00000380232,;	789	31	43	SUCCESS
IFNA10	3446	.	GRCh37	9	21206293	21206293	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	27	0	ENST00000357374.2:c.*234T>C			ENST00000357374	NM_002171.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6499.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAAAATAA	NONE	.	.	.	.	.	ENSP00000369566	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000357374	Transcript	.	.	ENSG00000186803	5418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFN10_HUMAN	IFNA10	HGNC	Q9UMJ2_HUMAN	.	UPI0000047765	SNV	IFNA10,3_prime_UTR_variant,,ENST00000357374,;IFNA7,upstream_gene_variant,,ENST00000239347,;IFNWP18,downstream_gene_variant,,ENST00000437472,;	850	27	28	SUCCESS
AGTPBP1	23287	.	GRCh37	9	88161842	88161842	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	10	0	ENST00000357081.3:c.*182T>C			ENST00000357081	NM_001286715.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6672.1	.	MUTECT|MUSE	.	AATAAAACAAG	NONE	.	.	.	.	.	ENSP00000365251	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000376083	Transcript	.	.	ENSG00000135049	17258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBPC1_HUMAN	AGTPBP1	HGNC	.	.	UPI000013CF66	SNV	AGTPBP1,3_prime_UTR_variant,,ENST00000357081,;AGTPBP1,3_prime_UTR_variant,,ENST00000376083,;AGTPBP1,3_prime_UTR_variant,,ENST00000337006,;AGTPBP1,3_prime_UTR_variant,,ENST00000376109,;AGTPBP1,downstream_gene_variant,,ENST00000432218,;	3820	10	9	SUCCESS
NXT2	55916	.	GRCh37	X	108779154	108779154	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs142540133	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	324	28	333	0				ENST00000372106	NM_001242617.1	15		0	C:0	C:0	.	C:0	.	T	G/*	protein_coding	YES	CCDS14546.1	43	MUTECT|MUSE|VARSCANS	.	GAGAAGGATAC	NONE	byCluster|by1000G	.	hmmpanther:PTHR12612,hmmpanther:PTHR12612:SF1	C:0	C:0.0003	ENSP00000218004	C:0.001	1/5	.	.	.	.	.	.	.	.	rs142540133	1/5	PASS	ENST00000218004	Transcript	.	C:0.0003	ENSG00000101888	18151	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	C:0	.	.	NXT2_HUMAN	NXT2	HGNC	.	.	UPI000013C73F	SNV	NXT2,stop_gained,p.Gly15Ter,ENST00000218004,;NXT2,upstream_gene_variant,,ENST00000372107,;NXT2,upstream_gene_variant,,ENST00000372103,;NXT2,upstream_gene_variant,,ENST00000372106,;	145	333	352	SUCCESS
CRLF2	64109	.	GRCh37	X	1314965	1314965	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs183174791	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	309	253	535	1				ENST00000381566				0	.	.	.	.	.	G	F	protein_coding	YES	.	696	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATAAATTT	CODON|p.F232C|c.695T>G|7	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF5	.	.	ENSP00000370979	.	6/6	.	.	.	.	.	.	.	.	COSM755327	6/6	PASS	ENST00000381567	Transcript	.	.	ENSG00000205755	14281	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	CRLF2	HGNC	Q4V300_HUMAN,J3QKD1_HUMAN,D0E2W4_HUMAN	.	UPI00001D7C68	SNV	CRLF2,synonymous_variant,p.%3D,ENST00000381567,;CRLF2,synonymous_variant,p.%3D,ENST00000400841,;CRLF2,downstream_gene_variant,,ENST00000381566,;CRLF2,non_coding_transcript_exon_variant,,ENST00000467626,;	696	536	563	SUCCESS
VAMP7	6845	.	GRCh37	X	155171879	155171879	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	4	66	0	ENST00000286448.6:c.*264G>A			ENST00000286448	NM_005638.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55548.1	.	MUTECT|MUSE	.	CTAGTGTCATC	NONE	.	.	.	.	.	ENSP00000262640	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000262640	Transcript	.	.	ENSG00000124333	11486	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VAMP7_HUMAN	VAMP7	HGNC	.	.	UPI000006F699	SNV	VAMP7,3_prime_UTR_variant,,ENST00000262640,;VAMP7,3_prime_UTR_variant,,ENST00000286448,;VAMP7,downstream_gene_variant,,ENST00000460621,;VAMP7,downstream_gene_variant,,ENST00000479687,;VAMP7,downstream_gene_variant,,ENST00000463317,;VAMP7,downstream_gene_variant,,ENST00000488344,;	942	66	69	SUCCESS
KIAA2022	0	.	GRCh37	X	73959153	73959153	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-4R-AA8I-01	TCGA-4R-AA8I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	29	68	0	ENST00000055682.6:c.*87G>A			ENST00000055682	NM_001008537.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35337.1	.	MUTECT|MUSE	.	GTATTCCCACA	NONE	.	.	.	.	.	ENSP00000055682	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000055682	Transcript	.	.	ENSG00000050030	29433	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K2022_HUMAN	KIAA2022	HGNC	.	.	UPI00001C207B	SNV	KIAA2022,3_prime_UTR_variant,,ENST00000055682,;KIAA2022,intron_variant,,ENST00000424929,;	5250	68	51	SUCCESS
CAPRIN1	4076	.	GRCh37	11	34121000	34121000	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	39	0	ENST00000341394.4:c.*86G>T			ENST00000341394	NM_005898.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31453.1	.	MUTECT|MUSE	.	TATTTGTTCTC	NONE	.	.	.	.	.	ENSP00000340329	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000341394	Transcript	.	.	ENSG00000135387	6743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAPR1_HUMAN	CAPRIN1	HGNC	G3V153_HUMAN,E9PLA9_HUMAN	.	UPI0000251DB5	SNV	CAPRIN1,3_prime_UTR_variant,,ENST00000532820,;CAPRIN1,3_prime_UTR_variant,,ENST00000341394,;CAPRIN1,3_prime_UTR_variant,,ENST00000529307,;CAPRIN1,downstream_gene_variant,,ENST00000389645,;CAPRIN1,downstream_gene_variant,,ENST00000530820,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,downstream_gene_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000533562,;CAPRIN1,downstream_gene_variant,,ENST00000528948,;CAPRIN1,downstream_gene_variant,,ENST00000528856,;	2405	39	44	SUCCESS
TMEM63C	57156	.	GRCh37	14	77723177	77723177	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs182139618	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	23	0	ENST00000298351.4:c.*108G>A			ENST00000298351	NM_020431.2			0	.	A:0	.	A:0.0029	.	A	.	protein_coding	YES	CCDS45141.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGAGAAG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000298351	A:0.002	24/24	.	.	.	.	.	.	.	.	rs182139618	24/24	PASS	ENST00000298351	Transcript	.	A:0.0008	ENSG00000165548	23787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	TM63C_HUMAN	TMEM63C	HGNC	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN	.	UPI0000049C5C	SNV	TMEM63C,3_prime_UTR_variant,,ENST00000298351,;TMEM63C,downstream_gene_variant,,ENST00000557504,;	2673	23	26	SUCCESS
ZPBP2	124626	.	GRCh37	17	38033171	38033171	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	6	32	0	ENST00000348931.4:c.*109C>T			ENST00000348931	NM_199321.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11352.1	.	MUTECT|MUSE	.	AACCACTGGAA	NONE	.	.	.	.	.	ENSP00000335384	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000348931	Transcript	.	.	ENSG00000186075	20678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZPBP2_HUMAN	ZPBP2	HGNC	.	.	UPI00001D79E4	SNV	ZPBP2,3_prime_UTR_variant,,ENST00000348931,;ZPBP2,3_prime_UTR_variant,,ENST00000584588,;ZPBP2,3_prime_UTR_variant,,ENST00000377940,;ZPBP2,downstream_gene_variant,,ENST00000583811,;	1317	32	39	SUCCESS
IER3IP1	51124	.	GRCh37	18	44682392	44682392	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	41	0	ENST00000256433.3:c.*156T>G			ENST00000256433	NM_016097.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11933.1	.	MUTECT|MUSE	.	AAAAAAAAAAC	NONE	.	.	.	.	.	ENSP00000256433	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000256433	Transcript	.	.	ENSG00000134049	18550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IR3IP_HUMAN	IER3IP1	HGNC	.	.	UPI000007015F	SNV	IER3IP1,3_prime_UTR_variant,,ENST00000256433,;IER3IP1,intron_variant,,ENST00000602926,;IER3IP1,intron_variant,,ENST00000588705,;IER3IP1,intron_variant,,ENST00000602459,;	502	41	44	SUCCESS
CTC-499B15.4	0	.	GRCh37	19	11797292	11797292	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	246	128	382	0				ENST00000424938				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTACCTACC	NONE	.	.	.	.	.	.	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000344893	Transcript	.	.	ENSG00000197332	33819	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF833P	HGNC	.	.	.	SNV	ZNF833P,non_coding_transcript_exon_variant,,ENST00000344893,;ZNF833P,downstream_gene_variant,,ENST00000542716,;CTC-499B15.4,downstream_gene_variant,,ENST00000424938,;	3291	382	375	SUCCESS
LGALS14	56891	.	GRCh37	19	40200065	40200065	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	13	0	ENST00000392052.3:c.*112T>C			ENST00000392052	NM_020129.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12542.1	.	RADIA|MUTECT|MUSE	.	CTTGATCATTA	NONE	.	112	.	.	.	ENSP00000353893	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000360675	Transcript	.	.	ENSG00000006659	30054	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPL13_HUMAN	LGALS14	HGNC	.	.	UPI0000202356	SNV	LGALS14,3_prime_UTR_variant,,ENST00000392052,;LGALS14,downstream_gene_variant,,ENST00000601802,;LGALS14,downstream_gene_variant,,ENST00000360675,;	.	13	12	SUCCESS
ZNF587	84914	.	GRCh37	19	58371671	58371671	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs771053758	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	27	0	ENST00000339656.5:c.*163C>G			ENST00000339656	NM_032828.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12964.1	.	MUTECT|MUSE	.	TTGTTCTGTCA	NONE	.	.	.	.	.	ENSP00000345479	.	3/3	.	.	.	.	.	.	.	.	rs771053758	3/3	PASS	ENST00000339656	Transcript	.	.	ENSG00000198466	30955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN587_HUMAN	ZNF587	HGNC	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0QXF5_HUMAN,E7EP41_HUMAN	.	UPI0000073916	SNV	ZNF587,3_prime_UTR_variant,,ENST00000419854,;ZNF587,3_prime_UTR_variant,,ENST00000339656,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597832,;CTD-2583A14.10,downstream_gene_variant,,ENST00000598031,;ZNF814,downstream_gene_variant,,ENST00000595048,;ZNF587,downstream_gene_variant,,ENST00000423137,;CTD-2583A14.10,downstream_gene_variant,,ENST00000597134,;ZNF814,downstream_gene_variant,,ENST00000600634,;ZNF587B,downstream_gene_variant,,ENST00000316462,;CTD-2583A14.10,downstream_gene_variant,,ENST00000593873,;CTD-2583A14.10,downstream_gene_variant,,ENST00000596498,;CTD-2583A14.10,downstream_gene_variant,,ENST00000603271,;ZNF814,upstream_gene_variant,,ENST00000597652,;ZNF587,upstream_gene_variant,,ENST00000596433,;ZNF814,non_coding_transcript_exon_variant,,ENST00000596184,;ZNF814,intron_variant,,ENST00000595894,;CTD-2583A14.10,downstream_gene_variant,,ENST00000604231,;ZNF814,downstream_gene_variant,,ENST00000597348,;	2073	27	27	SUCCESS
NEXN	91624	.	GRCh37	1	78408692	78408692	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1407179336	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	64	0	ENST00000334785.7:c.*178G>A			ENST00000334785	NM_144573.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41351.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGTGCCA	NONE	.	.	.	.	.	ENSP00000333938	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000334785	Transcript	.	.	ENSG00000162614	29557	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEXN_HUMAN	NEXN	HGNC	B4DDI0_HUMAN	.	UPI000022ABDC	SNV	NEXN,3_prime_UTR_variant,,ENST00000342754,;NEXN,3_prime_UTR_variant,,ENST00000334785,;NEXN,3_prime_UTR_variant,,ENST00000330010,;NEXN,downstream_gene_variant,,ENST00000457030,;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;FUBP1,downstream_gene_variant,,ENST00000483894,;FUBP1,downstream_gene_variant,,ENST00000492724,;FUBP1,downstream_gene_variant,,ENST00000488814,;FUBP1,downstream_gene_variant,,ENST00000474632,;FUBP1,downstream_gene_variant,,ENST00000492405,;FUBP1,downstream_gene_variant,,ENST00000480673,;FUBP1,downstream_gene_variant,,ENST00000489495,;FUBP1,downstream_gene_variant,,ENST00000294623,;NEXN,downstream_gene_variant,,ENST00000470735,;	2390	64	47	SUCCESS
IL18R1	8809	.	GRCh37	2	103013553	103013553	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	13	0	ENST00000233957.1:c.*207G>A			ENST00000233957	NM_003855.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2060.1	.	RADIA|MUTECT|MUSE	.	GACCTGGAATT	NONE	.	.	.	.	.	ENSP00000387211	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000409599	Transcript	.	.	ENSG00000115604	5988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL18R_HUMAN	IL18R1	HGNC	B7ZKV7_HUMAN	.	UPI000012D871	SNV	IL18R1,3_prime_UTR_variant,,ENST00000409599,;IL18R1,3_prime_UTR_variant,,ENST00000233957,;IL18R1,downstream_gene_variant,,ENST00000410040,;	2189	13	12	SUCCESS
PGBD1	84547	.	GRCh37	6	28270207	28270207	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	22	0	ENST00000259883.3:c.*146T>C			ENST00000259883				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4648.1	.	RADIA|MUTECT|MUSE	.	TAGAGTTTCAA	NONE	.	.	.	.	.	ENSP00000385213	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000405948	Transcript	.	.	ENSG00000137338	19398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PGBD1_HUMAN	PGBD1	HGNC	.	.	UPI000006ED63	SNV	PGBD1,3_prime_UTR_variant,,ENST00000405948,;PGBD1,3_prime_UTR_variant,,ENST00000259883,;	2996	22	12	SUCCESS
PHF20L1	51105	.	GRCh37	8	133858286	133858286	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-5C-A9VG-01	TCGA-5C-A9VG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	44	0	ENST00000395386.2:c.*118T>G			ENST00000395386	NM_016018.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6367.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATTTGTGAT	NONE	.	.	.	.	.	ENSP00000378784	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000395386	Transcript	.	.	ENSG00000129292	24280	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P20L1_HUMAN	PHF20L1	HGNC	E5RK91_HUMAN,B3KWX5_HUMAN	.	UPI0000DBD7AF	SNV	PHF20L1,3_prime_UTR_variant,,ENST00000395390,;PHF20L1,3_prime_UTR_variant,,ENST00000220847,;PHF20L1,3_prime_UTR_variant,,ENST00000395386,;AF230666.2,upstream_gene_variant,,ENST00000429151,;AF230666.2,upstream_gene_variant,,ENST00000608375,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000477051,;	3471	44	54	SUCCESS
FRAT1	10023	.	GRCh37	10	99080856	99080856	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	65	0	ENST00000371021.3:c.*806G>C			ENST00000371021	NM_005479.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7455.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCGGGACAG	NONE	.	.	.	.	.	ENSP00000360060	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371021	Transcript	.	.	ENSG00000165879	3944	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAT1_HUMAN	FRAT1	HGNC	.	.	UPI000006D6B7	SNV	FRAT1,3_prime_UTR_variant,,ENST00000371021,;FRAT1,non_coding_transcript_exon_variant,,ENST00000490980,;	1835	65	63	SUCCESS
FUT4	2526	.	GRCh37	11	94281852	94281852	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	53	136	1	ENST00000358752.2:c.*2960A>T			ENST00000358752	NM_002033.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAAATGCA	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	4836	137	131	SUCCESS
SDSL	113675	.	GRCh37	12	113876000	113876000	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	10	0	ENST00000345635.4:c.*116G>A			ENST00000345635	NM_138432.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9170.1	.	RADIA|MUTECT|MUSE	.	GTGCTGGCTGC	NONE	.	.	.	.	.	ENSP00000385790	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000403593	Transcript	.	.	ENSG00000139410	30404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDSL_HUMAN	SDSL	HGNC	F8VZ97_HUMAN,F8VYZ3_HUMAN	.	UPI0000072263	SNV	SDSL,3_prime_UTR_variant,,ENST00000546672,;SDSL,3_prime_UTR_variant,,ENST00000345635,;SDSL,3_prime_UTR_variant,,ENST00000403593,;SDSL,downstream_gene_variant,,ENST00000551760,;SDSL,downstream_gene_variant,,ENST00000553248,;	1368	10	11	SUCCESS
SDSL	113675	.	GRCh37	12	113876001	113876001	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1389812026	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	11	0	ENST00000345635.4:c.*117G>T			ENST00000345635	NM_138432.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9170.1	.	RADIA|MUTECT|MUSE	.	TGCTGGCTGCC	NONE	.	.	.	.	.	ENSP00000385790	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000403593	Transcript	.	.	ENSG00000139410	30404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDSL_HUMAN	SDSL	HGNC	F8VZ97_HUMAN,F8VYZ3_HUMAN	.	UPI0000072263	SNV	SDSL,3_prime_UTR_variant,,ENST00000546672,;SDSL,3_prime_UTR_variant,,ENST00000345635,;SDSL,3_prime_UTR_variant,,ENST00000403593,;SDSL,downstream_gene_variant,,ENST00000551760,;SDSL,downstream_gene_variant,,ENST00000553248,;	1369	11	10	SUCCESS
EIF2B1	1967	.	GRCh37	12	124106211	124106211	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	33	0	ENST00000424014.2:c.*92G>C			ENST00000424014	NM_001414.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31924.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACATCTCAGT	NONE	.	.	.	.	.	ENSP00000416250	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000424014	Transcript	.	.	ENSG00000111361	3257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BA_HUMAN	EIF2B1	HGNC	.	.	UPI0000129AAE	SNV	EIF2B1,3_prime_UTR_variant,,ENST00000424014,;EIF2B1,downstream_gene_variant,,ENST00000537073,;EIF2B1,downstream_gene_variant,,ENST00000539951,;DDX55,downstream_gene_variant,,ENST00000538744,;DDX55,downstream_gene_variant,,ENST00000238146,;EIF2B1,downstream_gene_variant,,ENST00000534960,;DDX55,downstream_gene_variant,,ENST00000421670,;SNORA9,downstream_gene_variant,,ENST00000384170,;DDX55,downstream_gene_variant,,ENST00000541259,;DDX55,downstream_gene_variant,,ENST00000544738,;DDX55,downstream_gene_variant,,ENST00000542286,;DDX55,downstream_gene_variant,,ENST00000539934,;DDX55,downstream_gene_variant,,ENST00000543016,;	1219	33	24	SUCCESS
MIP	4284	.	GRCh37	12	56844947	56844947	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	48	0	ENST00000257979.4:c.*117C>T			ENST00000257979	NM_012064.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8919.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATAAGTTAAA	NONE	.	.	.	.	.	ENSP00000257979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000257979	Transcript	.	.	ENSG00000135517	7103	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MIP_HUMAN	MIP	HGNC	.	.	UPI000012F154	SNV	MIP,3_prime_UTR_variant,,ENST00000257979,;TIMELESS,upstream_gene_variant,,ENST00000553532,;TIMELESS,upstream_gene_variant,,ENST00000554616,;TIMELESS,upstream_gene_variant,,ENST00000229201,;MIP,downstream_gene_variant,,ENST00000555551,;	938	48	32	SUCCESS
PSTPIP1	9051	.	GRCh37	15	77329597	77329597	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	36	0	ENST00000558012.1:c.*80G>T			ENST00000558012	NM_003978.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45312.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTAGGGCCCAG	NONE	.	.	.	.	.	ENSP00000452746	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000558012	Transcript	1	.	ENSG00000140368	9580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPIP1_HUMAN	PSTPIP1	HGNC	.	.	UPI00000703D7	SNV	PSTPIP1,3_prime_UTR_variant,,ENST00000267939,;PSTPIP1,3_prime_UTR_variant,,ENST00000559295,;PSTPIP1,3_prime_UTR_variant,,ENST00000558012,;PSTPIP1,3_prime_UTR_variant,,ENST00000558870,;PSTPIP1,3_prime_UTR_variant,,ENST00000379595,;PSTPIP1,downstream_gene_variant,,ENST00000559856,;RP11-797A18.4,downstream_gene_variant,,ENST00000569742,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000557995,;PSTPIP1,3_prime_UTR_variant,,ENST00000559785,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560064,;PSTPIP1,downstream_gene_variant,,ENST00000560223,;PSTPIP1,downstream_gene_variant,,ENST00000560377,;	1820	37	18	SUCCESS
ARL6IP1	23204	.	GRCh37	16	18804487	18804487	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs942409340	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	33	0	ENST00000304414.7:c.*87C>T			ENST00000304414	NM_015161.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10572.1	.	RADIA|MUTECT|MUSE	.	CTTCCGTAACA	NONE	.	.	.	.	.	ENSP00000306788	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000304414	Transcript	.	.	ENSG00000170540	697	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AR6P1_HUMAN	ARL6IP1	HGNC	F5GXP4_HUMAN	.	UPI0000125D46	SNV	ARL6IP1,3_prime_UTR_variant,,ENST00000304414,;ARL6IP1,3_prime_UTR_variant,,ENST00000546206,;ARL6IP1,3_prime_UTR_variant,,ENST00000562819,;RP11-1035H13.3,intron_variant,,ENST00000567078,;RPS15A,upstream_gene_variant,,ENST00000565420,;RPS15A,upstream_gene_variant,,ENST00000576436,;ARL6IP1,downstream_gene_variant,,ENST00000562234,;RPS15A,upstream_gene_variant,,ENST00000563390,;RPS15A,upstream_gene_variant,,ENST00000569083,;RPS15A,upstream_gene_variant,,ENST00000322989,;RPS15A,upstream_gene_variant,,ENST00000573554,;ARL6IP1,3_prime_UTR_variant,,ENST00000563861,;RPS15A,upstream_gene_variant,,ENST00000576008,;RPS15A,upstream_gene_variant,,ENST00000574723,;ARL6IP1,downstream_gene_variant,,ENST00000569976,;RPS15A,upstream_gene_variant,,ENST00000562935,;RPS15A,upstream_gene_variant,,ENST00000572008,;ARL6IP1,downstream_gene_variant,,ENST00000567969,;RPS15A,upstream_gene_variant,,ENST00000569365,;	911	33	20	SUCCESS
DNAJB7	150353	.	GRCh37	22	41256898	41256898	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	11	0	ENST00000307221.4:c.*171T>G			ENST00000307221	NM_145174.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14008.1	.	RADIA|MUTECT|MUSE	.	CCACAAACTCA	NONE	.	.	.	.	.	ENSP00000307197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307221	Transcript	.	.	ENSG00000172404	24986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DNJB7_HUMAN	DNAJB7	HGNC	.	.	UPI000006FBAD	SNV	DNAJB7,3_prime_UTR_variant,,ENST00000307221,;XPNPEP3,intron_variant,,ENST00000357137,;XPNPEP3,intron_variant,,ENST00000414396,;XPNPEP3,intron_variant,,ENST00000541156,;ST13,upstream_gene_variant,,ENST00000216218,;XPNPEP3,upstream_gene_variant,,ENST00000544094,;XPNPEP3,intron_variant,,ENST00000482652,;XPNPEP3,upstream_gene_variant,,ENST00000465258,;XPNPEP3,intron_variant,,ENST00000417688,;XPNPEP3,intron_variant,,ENST00000428799,;ST13,upstream_gene_variant,,ENST00000455824,;	1233	11	11	SUCCESS
TNP1	7141	.	GRCh37	2	217724245	217724245	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs996294515	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	32	0	ENST00000236979.2:c.*145G>A			ENST00000236979	NM_003284.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2406.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCGTCAC	NONE	.	.	.	.	.	ENSP00000236979	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000236979	Transcript	.	.	ENSG00000118245	11951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STP1_HUMAN	TNP1	HGNC	Q4ZG82_HUMAN	.	UPI00000012DC	SNV	TNP1,3_prime_UTR_variant,,ENST00000236979,;AC007563.5,intron_variant,,ENST00000447289,;AC007557.4,upstream_gene_variant,,ENST00000440900,;AC007563.5,upstream_gene_variant,,ENST00000607591,;	343	32	24	SUCCESS
NAGK	55577	.	GRCh37	2	71295557	71295557	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	25	0				ENST00000244204				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33220.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATCCAGGA	NONE	.	.	.	.	.	ENSP00000389087	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000455662	Transcript	.	.	ENSG00000124357	17174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAGK_HUMAN	NAGK	HGNC	E9PPU6_HUMAN,C9JEV6_HUMAN	.	UPI0000E0753B	SNV	NAGK,5_prime_UTR_variant,,ENST00000455662,;NAGK,intron_variant,,ENST00000531934,;NAGK,upstream_gene_variant,,ENST00000529236,;NAGK,upstream_gene_variant,,ENST00000244204,;NAGK,upstream_gene_variant,,ENST00000418807,;NAGK,upstream_gene_variant,,ENST00000443938,;NAGK,upstream_gene_variant,,ENST00000533981,;NAGK,upstream_gene_variant,,ENST00000443872,;RP11-467P9.1,upstream_gene_variant,,ENST00000608897,;AC007040.8,upstream_gene_variant,,ENST00000434990,;NAGK,upstream_gene_variant,,ENST00000428360,;NAGK,downstream_gene_variant,,ENST00000531799,;NAGK,5_prime_UTR_variant,,ENST00000455197,;NAGK,non_coding_transcript_exon_variant,,ENST00000497690,;NAGK,upstream_gene_variant,,ENST00000493102,;NAGK,upstream_gene_variant,,ENST00000480411,;NAGK,upstream_gene_variant,,ENST00000450272,;NAGK,upstream_gene_variant,,ENST00000484984,;NAGK,upstream_gene_variant,,ENST00000489309,;NAGK,upstream_gene_variant,,ENST00000524736,;NAGK,upstream_gene_variant,,ENST00000475709,;NAGK,upstream_gene_variant,,ENST00000478659,;NAGK,upstream_gene_variant,,ENST00000464638,;NAGK,upstream_gene_variant,,ENST00000472519,;NAGK,upstream_gene_variant,,ENST00000465105,;NAGK,upstream_gene_variant,,ENST00000479854,;	127	25	23	SUCCESS
SPRY3	10251	.	GRCh37	X	155006651	155006651	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	65	255	0	ENST00000302805.2:c.*2251G>T			ENST00000302805	NM_005840.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14769.4	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAAGGTTAG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	3549	255	225	SUCCESS
SPRY3	10251	.	GRCh37	X	155006652	155006652	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-5C-A9VH-01	TCGA-5C-A9VH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	65	257	0	ENST00000302805.2:c.*2252G>T			ENST00000302805	NM_005840.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14769.4	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGGTTAGG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	3550	257	225	SUCCESS
KCNA1	3736	.	GRCh37	12	5025454	5025454	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	23	87	0	ENST00000382545.3:c.*3422T>C			ENST00000382545	NM_000217.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8535.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTCTGATGT	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	6017	87	91	SUCCESS
DHX57	90957	.	GRCh37	2	39046078	39046104	+	splice_acceptor_variant,3_prime_UTR_variant,NMD_transcript_variant	Splice_Site	DEL	CTTCTTTTGTACTTAGCTGCCATCCCT	CTTCTTTTGTACTTAGCTGCCATCCCT	-	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	CTTCTTTTGTACTTAGCTGCCATCCCT	CTTCTTTTGTACTTAGCTGCCATCCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	63	16	113	0	ENST00000457308.1:c.*1686-2_*1710del			ENST00000457308				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1800.1	?-3412	INDELOCATOR*|VARSCANI*|PINDEL	.	GCACGCCTTCTTTTGTACTTAGCTGCCATCCCTAAATT	NONE	.	.	.	.	.	ENSP00000295373	.	19/24	.	.	.	.	.	.	.	.	.	19/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	HIGH	18/23	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	deletion	DHX57,splice_acceptor_variant,,ENST00000452978,;DHX57,splice_acceptor_variant,,ENST00000442331,;DHX57,splice_acceptor_variant,,ENST00000295373,;DHX57,splice_acceptor_variant,,ENST00000460193,;DHX57,splice_acceptor_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000497514,;	?-3539	113	79	SUCCESS
VEGFA	7422	.	GRCh37	6	43738861	43738876	+	upstream_gene_variant	5'Flank	DEL	GCCCGGGCCTCGGGCC	GCCCGGGCCTCGGGCC	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	GCCCGGGCCTCGGGCC	GCCCGGGCCTCGGGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	46	0				ENST00000523873				0	.	.	.	.	.	A	ARASGR/R	protein_coding	YES	CCDS34457.1	418-433	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCTGGCCCGGGCCTCGGGCCGGGGA	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF5	.	.	ENSP00000361125	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000372055	Transcript	.	.	ENSG00000112715	12680	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	VEGFA	HGNC	Q9UNS8_HUMAN,J3KPA4_HUMAN	.	UPI0000D61463	substitution	VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000324450,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000372064,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000372055,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000425836,;VEGFA,protein_altering_variant,p.Ala112_Gly116del,ENST00000519767,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000413642,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000372067,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000482630,;VEGFA,protein_altering_variant,p.Ala140_Gly144del,ENST00000417285,;VEGFA,5_prime_UTR_variant,,ENST00000372077,;VEGFA,5_prime_UTR_variant,,ENST00000520948,;VEGFA,upstream_gene_variant,,ENST00000520265,;VEGFA,upstream_gene_variant,,ENST00000523950,;VEGFA,upstream_gene_variant,,ENST00000230480,;VEGFA,upstream_gene_variant,,ENST00000457104,;VEGFA,upstream_gene_variant,,ENST00000523873,;VEGFA,upstream_gene_variant,,ENST00000518689,;VEGFA,upstream_gene_variant,,ENST00000518824,;VEGFA,upstream_gene_variant,,ENST00000523125,;RP1-261G23.7,upstream_gene_variant,,ENST00000607600,;VEGFA,non_coding_transcript_exon_variant,,ENST00000476772,;VEGFA,upstream_gene_variant,,ENST00000480614,;VEGFA,upstream_gene_variant,,ENST00000518538,;VEGFA,upstream_gene_variant,,ENST00000512683,;	418-433	46	58	SUCCESS
TM2D2	83877	.	GRCh37	8	38848702	38848702	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	21	0	ENST00000456397.2:c.*149G>T			ENST00000456397	NM_078473.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6111.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTCCAAAG	NONE	.	.	.	.	.	ENSP00000416050	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456397	Transcript	.	.	ENSG00000169490	24127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM2D2_HUMAN	TM2D2	HGNC	.	.	UPI000006FCA0	SNV	TM2D2,3_prime_UTR_variant,,ENST00000397070,;TM2D2,3_prime_UTR_variant,,ENST00000412303,;TM2D2,3_prime_UTR_variant,,ENST00000456845,;TM2D2,3_prime_UTR_variant,,ENST00000456397,;TM2D2,downstream_gene_variant,,ENST00000517872,;HTRA4,downstream_gene_variant,,ENST00000302495,;TM2D2,downstream_gene_variant,,ENST00000520152,;TM2D2,downstream_gene_variant,,ENST00000522142,;TM2D2,downstream_gene_variant,,ENST00000521060,;TM2D2,downstream_gene_variant,,ENST00000522434,;TM2D2,downstream_gene_variant,,ENST00000524331,;TM2D2,downstream_gene_variant,,ENST00000519186,;	888	21	24	SUCCESS
TM2D2	83877	.	GRCh37	8	38848703	38848703	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-5C-AAPD-01	TCGA-5C-AAPD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	22	0	ENST00000456397.2:c.*148G>T			ENST00000456397	NM_078473.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6111.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCCAAAGA	NONE	.	.	.	.	.	ENSP00000416050	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456397	Transcript	.	.	ENSG00000169490	24127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM2D2_HUMAN	TM2D2	HGNC	.	.	UPI000006FCA0	SNV	TM2D2,3_prime_UTR_variant,,ENST00000397070,;TM2D2,3_prime_UTR_variant,,ENST00000412303,;TM2D2,3_prime_UTR_variant,,ENST00000456845,;TM2D2,3_prime_UTR_variant,,ENST00000456397,;TM2D2,downstream_gene_variant,,ENST00000517872,;HTRA4,downstream_gene_variant,,ENST00000302495,;TM2D2,downstream_gene_variant,,ENST00000520152,;TM2D2,downstream_gene_variant,,ENST00000522142,;TM2D2,downstream_gene_variant,,ENST00000521060,;TM2D2,downstream_gene_variant,,ENST00000522434,;TM2D2,downstream_gene_variant,,ENST00000524331,;TM2D2,downstream_gene_variant,,ENST00000519186,;	887	22	24	SUCCESS
SLC17A6	57084	.	GRCh37	11	22399483	22399483	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	21	0	ENST00000263160.3:c.*197T>G			ENST00000263160	NM_020346.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7856.1	.	MUTECT|MUSE	.	TCCATTCAAGT	NONE	.	.	.	.	.	ENSP00000263160	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,3_prime_UTR_variant,,ENST00000263160,;	2383	21	28	SUCCESS
ITPR2	3709	.	GRCh37	12	26492300	26492301	+	3_prime_UTR_variant	3'UTR	INS	-	-	AAGGCTAG	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	123	0	ENST00000381340.3:c.*22_*29dup			ENST00000381340	NM_002223.2			0	.	.	.	.	.	AAGGCTAG	.	protein_coding	YES	CCDS41764.1	.	INDELOCATOR|VARSCANI	.	TGATGAAAGGC	NONE	.	.	.	.	.	ENSP00000370744	.	57/57	.	.	.	.	.	.	.	.	.	57/57	PASS	ENST00000381340	Transcript	.	.	ENSG00000123104	6181	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITPR2_HUMAN	ITPR2	HGNC	I1VE21_HUMAN	.	UPI00001FB7D2	insertion	ITPR2,3_prime_UTR_variant,,ENST00000381340,;RP11-612B6.2,upstream_gene_variant,,ENST00000537724,;RP11-513G19.1,intron_variant,,ENST00000535324,;RP11-283G6.4,upstream_gene_variant,,ENST00000540392,;	8552-8553	123	73	SUCCESS
TMEM251	26175	.	GRCh37	14	93653248	93653248	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	6	180	0	ENST00000415050.2:c.*232C>G			ENST00000415050	NM_001098621.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45158.1	.	MUTECT|MUSE	.	TAAATCATGTC	NONE	.	.	.	.	.	ENSP00000388431	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000415050	Transcript	.	.	ENSG00000153485	20218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM251_HUMAN	TMEM251	HGNC	.	.	UPI00001C1F72	SNV	TMEM251,3_prime_UTR_variant,,ENST00000283534,;TMEM251,3_prime_UTR_variant,,ENST00000415050,;RP11-371E8.4,intron_variant,,ENST00000557574,;MOAP1,upstream_gene_variant,,ENST00000556883,;MOAP1,upstream_gene_variant,,ENST00000298894,;RP11-371E8.4,intron_variant,,ENST00000557048,;RP11-371E8.4,intron_variant,,ENST00000554824,;	1117	180	108	SUCCESS
TTC4	7268	.	GRCh37	1	55207251	55207251	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	47	0	ENST00000371281.3:c.*65C>T			ENST00000371281	NM_004623.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS596.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCAGCTG	NONE	.	.	.	.	.	ENSP00000360329	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000371281	Transcript	.	.	ENSG00000243725	12394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC4_HUMAN	TTC4	HGNC	.	.	UPI000013E156	SNV	TTC4,3_prime_UTR_variant,,ENST00000371281,;TTC4,non_coding_transcript_exon_variant,,ENST00000371284,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000414150,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7-TTC4,non_coding_transcript_exon_variant,,ENST00000460155,;TTC4,non_coding_transcript_exon_variant,,ENST00000486091,;	1316	47	23	SUCCESS
CST9	128822	.	GRCh37	20	23583996	23583996	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	10	0	ENST00000376971.3:c.*151C>T			ENST00000376971	NM_001008693.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33450.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGCCCAG	NONE	.	.	.	.	.	ENSP00000366170	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376971	Transcript	.	.	ENSG00000173335	13261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9_HUMAN	CST9	HGNC	.	.	UPI000013ED7B	SNV	CST9,3_prime_UTR_variant,,ENST00000376971,;	643	10	14	SUCCESS
MAPRE1	22919	.	GRCh37	20	31436722	31436722	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	12	0	ENST00000375571.5:c.*188A>G			ENST00000375571	NM_012325.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13208.1	.	MUTECT|MUSE	.	CTTTTACCTTG	NONE	.	.	.	.	.	ENSP00000364721	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000375571	Transcript	.	.	ENSG00000101367	6890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MARE1_HUMAN	MAPRE1	HGNC	.	.	UPI000012EB1B	SNV	MAPRE1,3_prime_UTR_variant,,ENST00000375571,;RP5-1085F17.4,intron_variant,,ENST00000565572,;	1134	12	12	SUCCESS
FAM217B	63939	.	GRCh37	20	58521916	58521916	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	89	0	ENST00000358293.3:c.*1766G>T			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13484.1	.	MUTECT|MUSE	.	CTGTAGTTCCT	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,downstream_gene_variant,,ENST00000469084,;	3333	89	64	SUCCESS
RRM2	6241	.	GRCh37	2	10262771	10262797	+	upstream_gene_variant	5'Flank	DEL	AGCCAATGGGAAGGGCCGGGGCACCAA	AGCCAATGGGAAGGGCCGGGGCACCAA	-	rs765536182	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	AGCCAATGGGAAGGGCCGGGGCACCAA	AGCCAATGGGAAGGGCCGGGGCACCAA	.	.	.	.	.	.	.	.	.	.	.	.	.	136	39	240	0				ENST00000304567	NM_001034.3	9		0	.	.	.	.	.	-	QPMGRAGAPK/Q	protein_coding	YES	CCDS54334.1	26-52	INDELOCATOR|VARSCANI	.	TGGCACAGCCAATGGGAAGGGCCGGGGCACCAAAGCCA	NONE	.	.	.	.	.	ENSP00000353770	.	1/10	.	.	.	.	.	.	.	.	rs765536182	1/10	PASS	ENST00000360566	Transcript	.	.	ENSG00000171848	10452	20	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIR2_HUMAN	RRM2	HGNC	Q9UKM0_HUMAN,Q8N6S3_HUMAN,B3KS26_HUMAN	.	UPI000066D98A	deletion	RRM2,inframe_deletion,p.Ala16_Gly24del,ENST00000360566,;RRM2,upstream_gene_variant,,ENST00000474701,;RRM2,upstream_gene_variant,,ENST00000304567,;RP11-254F7.4,downstream_gene_variant,,ENST00000607140,;RRM2,upstream_gene_variant,,ENST00000487591,;RRM2,upstream_gene_variant,,ENST00000462343,;RRM2,upstream_gene_variant,,ENST00000498343,;RRM2,upstream_gene_variant,,ENST00000485717,;RRM2,upstream_gene_variant,,ENST00000491447,;RRM2,upstream_gene_variant,,ENST00000459969,;RRM2,upstream_gene_variant,,ENST00000461327,;	317-343	240	175	SUCCESS
RAP2B	5912	.	GRCh37	3	152882605	152882607	+	3_prime_UTR_variant	3'UTR	DEL	TCT	TCT	-	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	138	49	157	0	ENST00000323534.2:c.*1573_*1575del			ENST00000323534	NM_002886.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3170.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGATACTCTTCAGA	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	deletion	RAP2B,3_prime_UTR_variant,,ENST00000323534,;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	2577-2579	157	187	SUCCESS
HIST1H2BK	0	.	GRCh37	6	27114964	27114964	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs748519711	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	195	51	242	0				ENST00000396891	NM_080593.2	19		0	.	.	.	.	.	C	S	protein_coding	YES	CCDS4622.1	57	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTCTTCTCG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000366679	.	1/1	.	.	.	.	.	.	.	.	rs748519711,COSM3248994	1/1	PASS	ENST00000377459	Transcript	.	.	ENSG00000184825	13671	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	H2A1H_HUMAN	HIST1H2AH	HGNC	A3KPC7_HUMAN	.	UPI0000073C8A	SNV	HIST1H2AH,synonymous_variant,p.%3D,ENST00000377459,;HIST1H2BK,upstream_gene_variant,,ENST00000356950,;HIST1H2BK,upstream_gene_variant,,ENST00000396891,;MIR3143,upstream_gene_variant,,ENST00000584253,;	104	242	246	SUCCESS
KCNK16	83795	.	GRCh37	6	39282771	39282771	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	73	165	0	ENST00000373229.5:c.*7A>G			ENST00000373229	NM_032115.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47421.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCGTGGGTC	NONE	.	.	.	.	.	ENSP00000391498	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000425054	Transcript	.	.	ENSG00000095981	14464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNKG_HUMAN	KCNK16	HGNC	.	.	UPI00006838F1	SNV	KCNK16,3_prime_UTR_variant,,ENST00000425054,;KCNK16,3_prime_UTR_variant,,ENST00000507712,;KCNK16,3_prime_UTR_variant,,ENST00000373229,;KCNK17,upstream_gene_variant,,ENST00000373231,;KCNK16,downstream_gene_variant,,ENST00000373227,;KCNK16,downstream_gene_variant,,ENST00000437525,;KCNK17,upstream_gene_variant,,ENST00000453413,;KCNK17,upstream_gene_variant,,ENST00000503878,;	1098	165	154	SUCCESS
FUT9	10690	.	GRCh37	6	96661532	96661532	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	48	128	0	ENST00000302103.5:c.*9421T>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATAGGGT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	10827	128	67	SUCCESS
PEG10	23089	.	GRCh37	7	94295947	94295947	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	25	91	0	ENST00000482108.1:c.*2101T>C			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCATACCCA	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	3558	91	70	SUCCESS
PPP1R26	9858	.	GRCh37	9	138380656	138380668	+	3_prime_UTR_variant	3'UTR	DEL	GCCCTGGGCCTGG	GCCCTGGGCCTGG	-	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	GCCCTGGGCCTGG	GCCCTGGGCCTGG	.	.	.	.	.	.	.	.	.	.	.	.	.	74	42	133	0	ENST00000356818.2:c.*671_*683del			ENST00000356818	NM_014811.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6988.1	.	INDELOCATOR|VARSCANI	.	AGCCCAGCCCTGGGCCTGGGTGGG	NONE	.	.	.	.	.	ENSP00000349274	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356818	Transcript	.	.	ENSG00000196422	29089	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR26_HUMAN	PPP1R26	HGNC	Q5T8A6_HUMAN	.	UPI000013DB17	deletion	PPP1R26,3_prime_UTR_variant,,ENST00000604351,;PPP1R26,3_prime_UTR_variant,,ENST00000401470,;PPP1R26,3_prime_UTR_variant,,ENST00000605660,;PPP1R26,3_prime_UTR_variant,,ENST00000356818,;PPP1R26,3_prime_UTR_variant,,ENST00000605286,;PPP1R26,downstream_gene_variant,,ENST00000602993,;	4849-4861	133	117	SUCCESS
RLN2	6019	.	GRCh37	9	5299936	5299936	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-5R-AA1C-01	TCGA-5R-AA1C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000381627.3:c.*162G>A			ENST00000381627	NM_134441.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6460.1	.	MUTECT|MUSE	.	CTAAACATCAA	NONE	.	.	.	.	.	ENSP00000371040	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381627	Transcript	.	.	ENSG00000107014	10027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REL2_HUMAN	RLN2	HGNC	.	.	UPI000002C1A0	SNV	RLN2,3_prime_UTR_variant,,ENST00000416837,;RLN2,3_prime_UTR_variant,,ENST00000308420,;RLN2,3_prime_UTR_variant,,ENST00000381627,;	1109	12	10	SUCCESS
METTL12	0	.	GRCh37	11	62435260	62435260	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs370742944	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	66	0	ENST00000532971.1:c.*737T>C			ENST00000532971	NM_001043229.1			0	C:0	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS41657.1	.	MUTECT|MUSE	.	TGATATATTAT	NONE	byCluster|by1000G	.	.	C:0	C:0.0001	ENSP00000431287	C:0.001	3/3	.	.	.	.	.	.	.	.	rs370742944	3/3	PASS	ENST00000532971	Transcript	.	C:0.0002	ENSG00000214756	33113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	MET12_HUMAN	METTL12	HGNC	.	.	UPI0000D4EAB2	SNV	METTL12,3_prime_UTR_variant,,ENST00000532971,;C11orf48,intron_variant,,ENST00000528115,;C11orf48,intron_variant,,ENST00000528862,;C11orf48,intron_variant,,ENST00000354588,;C11orf48,intron_variant,,ENST00000532208,;C11orf48,intron_variant,,ENST00000415855,;C11orf48,intron_variant,,ENST00000431002,;C11orf48,upstream_gene_variant,,ENST00000525675,;C11orf48,upstream_gene_variant,,ENST00000524958,;RP11-831H9.11,upstream_gene_variant,,ENST00000528405,;C11orf83,upstream_gene_variant,,ENST00000531323,;C11orf83,upstream_gene_variant,,ENST00000377953,;C11orf48,downstream_gene_variant,,ENST00000377954,;C11orf48,downstream_gene_variant,,ENST00000526490,;SNORA57,downstream_gene_variant,,ENST00000383870,;METTL12,downstream_gene_variant,,ENST00000398922,;METTL12,downstream_gene_variant,,ENST00000594728,;METTL12,non_coding_transcript_exon_variant,,ENST00000529868,;C11orf48,intron_variant,,ENST00000524759,;C11orf48,intron_variant,,ENST00000527679,;C11orf48,upstream_gene_variant,,ENST00000532786,;	1717	66	49	SUCCESS
HIST1H1B	0	.	GRCh37	6	27840096	27840096	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs749122167	.	TCGA-5R-AA1D-01	TCGA-5R-AA1D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	45	0				ENST00000331442	NM_005322.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4636.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATGGCTAAGT	NONE	.	.	.	.	.	ENSP00000329554	.	1/1	.	.	.	.	.	.	.	.	rs749122167	1/1	PASS	ENST00000328488	Transcript	.	.	ENSG00000182572	4771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3I	HGNC	.	.	UPI00000003C7	SNV	HIST1H3I,5_prime_UTR_variant,,ENST00000328488,;HIST1H1B,upstream_gene_variant,,ENST00000331442,;HIST1H4L,downstream_gene_variant,,ENST00000355981,;	4	45	50	SUCCESS
KCNA1	3736	.	GRCh37	12	5024540	5024540	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	7	108	0	ENST00000382545.3:c.*2508C>A			ENST00000382545	NM_000217.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8535.1	.	MUTECT|MUSE	.	TTTCCCCCATC	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	5103	108	106	SUCCESS
IGHD	3495	.	GRCh37	14	106303262	106303262	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	54	0	ENST00000390556.2:c.*223C>A			ENST00000390556				0	.	.	.	.	.	T	.	IG_C_gene	YES	.	.	MUTECT|MUSE|VARSCANS	.	CCGGGGCAGGG	NONE	.	.	.	.	.	ENSP00000374998	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000390556	Transcript	.	.	ENSG00000211898	5480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGHD	HGNC	.	.	UPI000173A6A0	SNV	IGHD,3_prime_UTR_variant,,ENST00000390556,;	1515	54	60	SUCCESS
USP6	9098	.	GRCh37	17	5076333	5076333	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	13	87	0	ENST00000250066.6:c.*60T>C			ENST00000250066	NM_004505.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11069.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGATACTTG	NONE	.	.	.	.	.	ENSP00000460380	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000574788	Transcript	.	.	ENSG00000129204	12629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP6_HUMAN	USP6	HGNC	Q6U210_HUMAN	.	UPI000006226F	SNV	USP6,3_prime_UTR_variant,,ENST00000250066,;USP6,3_prime_UTR_variant,,ENST00000574788,;USP6,3_prime_UTR_variant,,ENST00000304328,;USP6,3_prime_UTR_variant,,ENST00000332776,;USP6,3_prime_UTR_variant,,ENST00000572949,;USP6,3_prime_UTR_variant,,ENST00000575709,;	6511	87	70	SUCCESS
KLK7	5650	.	GRCh37	19	51480743	51480743	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	66	0	ENST00000391807.1:c.*49G>C			ENST00000391807	NM_139277.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12812.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCACTCCTGTG	NONE	.	.	.	.	.	ENSP00000375683	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000391807	Transcript	.	.	ENSG00000169035	6368	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLK7_HUMAN	KLK7	HGNC	M0QYU8_HUMAN,B4DHX9_HUMAN	.	UPI0000001BC4	SNV	KLK7,3_prime_UTR_variant,,ENST00000595820,;KLK7,3_prime_UTR_variant,,ENST00000597707,;KLK7,3_prime_UTR_variant,,ENST00000336317,;KLK7,3_prime_UTR_variant,,ENST00000391807,;KLK7,downstream_gene_variant,,ENST00000593904,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,downstream_gene_variant,,ENST00000595638,;KLK7,3_prime_UTR_variant,,ENST00000304045,;	913	66	62	SUCCESS
CNIH3	149111	.	GRCh37	1	224927132	224927132	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	7	183	1	ENST00000272133.3:c.*74A>T			ENST00000272133	NM_152495.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1544.1	.	MUTECT|MUSE	.	TGGTGACTGGA	NONE	.	.	.	.	.	ENSP00000272133	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000272133	Transcript	.	.	ENSG00000143786	26802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNIH3_HUMAN	CNIH3	HGNC	.	.	UPI0000003FD7	SNV	CNIH3,3_prime_UTR_variant,,ENST00000272133,;CNIH3,non_coding_transcript_exon_variant,,ENST00000498382,;CNIH3,downstream_gene_variant,,ENST00000478120,;CNIH3,downstream_gene_variant,,ENST00000481095,;	1439	184	191	SUCCESS
USP33	23032	.	GRCh37	1	78162761	78162761	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	26	0	ENST00000357428.1:c.*241A>T			ENST00000357428				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS678.1	.	MUTECT|MUSE	.	GACTCTGTCTC	NONE	.	.	.	.	.	ENSP00000359829	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000370793	Transcript	.	.	ENSG00000077254	20059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP33_HUMAN	USP33	HGNC	Q9Y417_HUMAN,E9PQP0_HUMAN,E9PP47_HUMAN,E9PLK7_HUMAN	.	UPI000022ABDA	SNV	USP33,3_prime_UTR_variant,,ENST00000370793,;USP33,3_prime_UTR_variant,,ENST00000481579,;USP33,3_prime_UTR_variant,,ENST00000357428,;USP33,3_prime_UTR_variant,,ENST00000370794,;USP33,downstream_gene_variant,,ENST00000533928,;	3417	26	14	SUCCESS
TMEM108	66000	.	GRCh37	3	133114878	133114881	+	3_prime_UTR_variant	3'UTR	DEL	ATAA	ATAA	-	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	ATAA	ATAA	.	.	.	.	.	.	.	.	.	.	.	.	.	57	8	47	0	ENST00000321871.6:c.*51_*54del			ENST00000321871	NM_001136469.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33858.1	.	INDELOCATOR*|PINDEL	.	TAAATTATAAATATA	NONE	.	.	.	.	.	ENSP00000324651	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000321871	Transcript	.	.	ENSG00000144868	28451	3	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM108_HUMAN	TMEM108	HGNC	D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN	.	UPI000004EE8B	deletion	TMEM108,3_prime_UTR_variant,,ENST00000393130,;TMEM108,3_prime_UTR_variant,,ENST00000321871,;TMEM108,3_prime_UTR_variant,,ENST00000508711,;BFSP2,upstream_gene_variant,,ENST00000302334,;BFSP2,upstream_gene_variant,,ENST00000513441,;BFSP2,upstream_gene_variant,,ENST00000511140,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,;	1986-1989	47	65	SUCCESS
P2RY1	5028	.	GRCh37	3	152555153	152555153	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	48	0	ENST00000305097.3:c.*460A>G			ENST00000305097	NM_002563.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3169.1	.	MUTECT|MUSE	.	ATATAACAAAA	NONE	.	.	.	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,3_prime_UTR_variant,,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	2418	48	43	SUCCESS
C4orf21	0	.	GRCh37	4	113460679	113460679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs922899202	.	TCGA-5R-AAAM-01	TCGA-5R-AAAM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	69	0	ENST00000505019.1:c.*24T>A			ENST00000505019	NM_018392.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3700.2	.	MUTECT|MUSE	.	TAAATACAAAA	NONE	.	.	.	.	.	ENSP00000424737	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000505019	Transcript	.	.	ENSG00000138658	25654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD021_HUMAN	C4orf21	HGNC	I3L0G6_HUMAN,D6REN9_HUMAN	.	UPI0000EE2F8F	SNV	C4orf21,3_prime_UTR_variant,,ENST00000505019,;RP11-402J6.1,intron_variant,,ENST00000504009,;C4orf21,3_prime_UTR_variant,,ENST00000445413,;C4orf21,non_coding_transcript_exon_variant,,ENST00000506675,;	6465	69	69	SUCCESS
KRTAP5-5	439915	.	GRCh37	11	1652019	1652019	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	43	108	0	ENST00000399676.2:c.*235G>T			ENST00000399676	NM_001001480.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41592.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAGGCCCC	NONE	.	.	.	.	.	ENSP00000382584	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399676	Transcript	.	.	ENSG00000185940	23601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA55_HUMAN	KRTAP5-5	HGNC	.	.	UPI0000E592E5	SNV	KRTAP5-5,3_prime_UTR_variant,,ENST00000399676,;	987	108	143	SUCCESS
PTGDR	5729	.	GRCh37	14	52741702	52741702	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs770803480	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	18	99	0	ENST00000306051.2:c.*20G>T			ENST00000306051	NM_000953.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9707.1	.	MUSE|VARSCANS	.	CTGTGGTAAGC	NONE	byFrequency	.	.	.	.	ENSP00000303424	.	2/2	.	.	.	.	.	.	.	.	rs770803480	2/2	PASS	ENST00000306051	Transcript	.	.	ENSG00000168229	9591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PD2R_HUMAN	PTGDR	HGNC	.	.	UPI000000D994	SNV	PTGDR,3_prime_UTR_variant,,ENST00000553372,;PTGDR,3_prime_UTR_variant,,ENST00000306051,;	1202	99	94	SUCCESS
GREM1	26585	.	GRCh37	15	33025014	33025014	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	52	189	0	ENST00000300177.4:c.*1568G>T			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGATTTG	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	2312	189	180	SUCCESS
STX1B	112755	.	GRCh37	16	31004051	31004051	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	11	0	ENST00000215095.5:c.*91G>A			ENST00000215095	NM_052874.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10699.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TGAGCCTGGAG	NONE	.	.	.	.	.	ENSP00000215095	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000215095	Transcript	.	.	ENSG00000099365	18539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	STX1B_HUMAN	STX1B	HGNC	H3BT82_HUMAN	.	UPI0000000C13	SNV	STX1B,3_prime_UTR_variant,,ENST00000569638,;STX1B,3_prime_UTR_variant,,ENST00000565419,;STX1B,3_prime_UTR_variant,,ENST00000215095,;HSD3B7,downstream_gene_variant,,ENST00000297679,;HSD3B7,downstream_gene_variant,,ENST00000353250,;HSD3B7,downstream_gene_variant,,ENST00000262520,;STX1B,downstream_gene_variant,,ENST00000566211,;	1190	11	17	SUCCESS
SUPT4H1	6827	.	GRCh37	17	56423594	56423594	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	15	91	0	ENST00000225504.3:c.*13C>T			ENST00000225504	NM_003168.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11606.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGCAGCCTTG	NONE	.	.	.	.	.	ENSP00000225504	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000225504	Transcript	.	.	ENSG00000213246	11467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPT4H_HUMAN	SUPT4H1	HGNC	J3QR04_HUMAN,D3DTZ5_HUMAN	.	UPI0000021936	SNV	SUPT4H1,3_prime_UTR_variant,,ENST00000577396,;SUPT4H1,3_prime_UTR_variant,,ENST00000580947,;SUPT4H1,3_prime_UTR_variant,,ENST00000581540,;SUPT4H1,3_prime_UTR_variant,,ENST00000225504,;BZRAP1-AS1,intron_variant,,ENST00000582348,;BZRAP1-AS1,intron_variant,,ENST00000578334,;BZRAP1-AS1,intron_variant,,ENST00000585236,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,intron_variant,,ENST00000583826,;BZRAP1-AS1,intron_variant,,ENST00000580515,;BZRAP1-AS1,intron_variant,,ENST00000580633,;BZRAP1-AS1,intron_variant,,ENST00000579527,;BZRAP1-AS1,intron_variant,,ENST00000580022,;BZRAP1-AS1,intron_variant,,ENST00000579859,;BZRAP1-AS1,intron_variant,,ENST00000578025,;SUPT4H1,3_prime_UTR_variant,,ENST00000581166,;SUPT4H1,non_coding_transcript_exon_variant,,ENST00000581204,;SUPT4H1,downstream_gene_variant,,ENST00000579289,;	434	91	94	SUCCESS
ZNF536	9745	.	GRCh37	19	31048073	31048073	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	478	157	610	1	ENST00000355537.3:c.*2A>T			ENST00000355537	NM_014717.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32984.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACACTCCC	NONE	.	.	.	.	.	ENSP00000347730	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355537	Transcript	.	.	ENSG00000198597	29025	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN536_HUMAN	ZNF536	HGNC	K7EKT4_HUMAN,K7EJP8_HUMAN	.	UPI000006ED3E	SNV	ZNF536,3_prime_UTR_variant,,ENST00000355537,;ZNF536,intron_variant,,ENST00000592773,;	4052	611	635	SUCCESS
C3	718	.	GRCh37	19	6677844	6677844	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs113074880	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	34	0	ENST00000245907.6:c.*49G>T			ENST00000245907	NM_000064.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32883.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACACGTGAG	NONE	byCluster	.	.	.	.	ENSP00000245907	.	41/41	.	.	.	.	.	.	.	.	rs113074880	41/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,3_prime_UTR_variant,,ENST00000245907,;C3,downstream_gene_variant,,ENST00000596548,;C3,downstream_gene_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000602229,;C3,downstream_gene_variant,,ENST00000599668,;C3,downstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000599899,;	5134	34	40	SUCCESS
GSTM3	2947	.	GRCh37	1	110279601	110279601	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1469094333	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	40	0	ENST00000256594.3:c.*92T>C			ENST00000256594				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS812.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAACATAAGT	NONE	.	.	.	.	.	ENSP00000444978	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000540225	Transcript	.	.	ENSG00000134202	4635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSTM3_HUMAN	GSTM3	HGNC	Q6FGJ9_HUMAN	.	UPI000013CF17	SNV	GSTM3,3_prime_UTR_variant,,ENST00000256594,;GSTM3,3_prime_UTR_variant,,ENST00000361066,;GSTM3,3_prime_UTR_variant,,ENST00000540225,;RP4-735C1.4,non_coding_transcript_exon_variant,,ENST00000431955,;GSTM3,non_coding_transcript_exon_variant,,ENST00000486823,;GSTM3,non_coding_transcript_exon_variant,,ENST00000476321,;GSTM3,non_coding_transcript_exon_variant,,ENST00000488824,;GSTM5,intron_variant,,ENST00000429410,;	1081	40	49	SUCCESS
RNF207	388591	.	GRCh37	1	6279537	6279537	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	54	0	ENST00000377939.4:c.*70G>T			ENST00000377939	NM_207396.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59.2	.	RADIA|MUTECT|MUSE	.	AGGTTGTTCCC	NONE	.	.	.	.	.	ENSP00000367173	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000377939	Transcript	.	.	ENSG00000158286	32947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN207_HUMAN	RNF207	HGNC	.	.	UPI0000F0A526	SNV	RNF207,3_prime_UTR_variant,,ENST00000377948,;RNF207,3_prime_UTR_variant,,ENST00000377939,;ICMT,downstream_gene_variant,,ENST00000343813,;RNF207,downstream_gene_variant,,ENST00000483336,;ICMT,downstream_gene_variant,,ENST00000495791,;RNF207,non_coding_transcript_exon_variant,,ENST00000496676,;ICMT,downstream_gene_variant,,ENST00000489498,;	2102	54	43	SUCCESS
BLCAP	10904	.	GRCh37	20	36147307	36147307	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	21	0	ENST00000373537.2:c.*6T>C			ENST00000373537	NM_006698.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13295.1	.	RADIA|VARSCANS	.	AGGGCAGGCCG	NONE	.	.	.	.	.	ENSP00000397172	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000414542	Transcript	.	.	ENSG00000166619	1055	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BLCAP_HUMAN	BLCAP	HGNC	A2A2K9_HUMAN,A2A2K8_HUMAN	.	UPI0000000D02	SNV	BLCAP,3_prime_UTR_variant,,ENST00000397137,;BLCAP,3_prime_UTR_variant,,ENST00000373537,;BLCAP,3_prime_UTR_variant,,ENST00000397131,;BLCAP,3_prime_UTR_variant,,ENST00000414542,;BLCAP,3_prime_UTR_variant,,ENST00000397135,;BLCAP,3_prime_UTR_variant,,ENST00000397134,;BLCAP,downstream_gene_variant,,ENST00000445723,;NNAT,upstream_gene_variant,,ENST00000062104,;BLCAP,downstream_gene_variant,,ENST00000432507,;BLCAP,downstream_gene_variant,,ENST00000456058,;BLCAP,downstream_gene_variant,,ENST00000414080,;NNAT,upstream_gene_variant,,ENST00000346199,;BLCAP,intron_variant,,ENST00000467603,;	718	21	20	SUCCESS
DYNC1I2	1781	.	GRCh37	2	172604523	172604523	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	46	0	ENST00000397119.3:c.*124T>C			ENST00000397119	NM_001378.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46450.1	.	MUTECT|MUSE	.	GGGTTTAATGC	NONE	.	.	.	.	.	ENSP00000380308	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000397119	Transcript	.	.	ENSG00000077380	2964	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DC1I2_HUMAN	DYNC1I2	HGNC	Q53SA6_HUMAN,E7ERR6_HUMAN	.	UPI0000129A05	SNV	DYNC1I2,3_prime_UTR_variant,,ENST00000508530,;DYNC1I2,3_prime_UTR_variant,,ENST00000263811,;DYNC1I2,3_prime_UTR_variant,,ENST00000340296,;DYNC1I2,3_prime_UTR_variant,,ENST00000534253,;DYNC1I2,3_prime_UTR_variant,,ENST00000358002,;DYNC1I2,3_prime_UTR_variant,,ENST00000409197,;DYNC1I2,3_prime_UTR_variant,,ENST00000397119,;DYNC1I2,3_prime_UTR_variant,,ENST00000409453,;DYNC1I2,3_prime_UTR_variant,,ENST00000409773,;DYNC1I2,downstream_gene_variant,,ENST00000409317,;DYNC1I2,downstream_gene_variant,,ENST00000410079,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000482454,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000479806,;	2208	46	32	SUCCESS
UGT1A6	54578	.	GRCh37	2	234681251	234681251	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	42	0	ENST00000305139.6:c.*46A>G			ENST00000305139	NM_001072.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33405.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGTCATTTCC	NONE	.	.	.	.	.	ENSP00000362508	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000373409	Transcript	.	.	ENSG00000244474	12536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UD14_HUMAN	UGT1A4	HGNC	Q8WX88_HUMAN,Q53QD2_HUMAN,B8K2E8_HUMAN	.	UPI0000001044	SNV	UGT1A4,3_prime_UTR_variant,,ENST00000373409,;UGT1A6,3_prime_UTR_variant,,ENST00000305139,;UGT1A3,3_prime_UTR_variant,,ENST00000482026,;UGT1A6,3_prime_UTR_variant,,ENST00000373424,;UGT1A8,3_prime_UTR_variant,,ENST00000608381,;UGT1A7,3_prime_UTR_variant,,ENST00000373426,;UGT1A8,3_prime_UTR_variant,,ENST00000609637,;UGT1A8,3_prime_UTR_variant,,ENST00000609767,;UGT1A5,3_prime_UTR_variant,,ENST00000373414,;UGT1A1,3_prime_UTR_variant,,ENST00000305208,;UGT1A10,3_prime_UTR_variant,,ENST00000344644,;UGT1A8,3_prime_UTR_variant,,ENST00000373450,;UGT1A9,3_prime_UTR_variant,,ENST00000354728,;UGT1A10,downstream_gene_variant,,ENST00000373445,;UGT1A8,downstream_gene_variant,,ENST00000608383,;MROH2A,upstream_gene_variant,,ENST00000454283,;UGT1A8,downstream_gene_variant,,ENST00000360418,;MROH2A,upstream_gene_variant,,ENST00000428446,;UGT1A6,downstream_gene_variant,,ENST00000406651,;MROH2A,upstream_gene_variant,,ENST00000430892,;UGT1A4,3_prime_UTR_variant,,ENST00000450233,;UGT1A6,downstream_gene_variant,,ENST00000446481,;	1694	42	51	SUCCESS
SOX11	6664	.	GRCh37	2	5835852	5835852	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	34	105	0	ENST00000322002.3:c.*1673G>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTGCGCGG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	3054	105	100	SUCCESS
SOX11	6664	.	GRCh37	2	5837767	5837767	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	31	109	0	ENST00000322002.3:c.*3588G>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGGAAAAG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	4969	109	92	SUCCESS
EDNRA	1909	.	GRCh37	4	148463817	148463817	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	42	0	ENST00000324300.5:c.*47A>T			ENST00000324300	NM_001957.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3769.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAAAAAAA	NONE	.	.	.	.	.	ENSP00000315011	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000324300	Transcript	1	.	ENSG00000151617	3179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDNRA_HUMAN	EDNRA	HGNC	.	.	UPI00000503F9	SNV	EDNRA,3_prime_UTR_variant,,ENST00000511804,;EDNRA,3_prime_UTR_variant,,ENST00000339690,;EDNRA,3_prime_UTR_variant,,ENST00000358556,;EDNRA,3_prime_UTR_variant,,ENST00000324300,;EDNRA,3_prime_UTR_variant,,ENST00000506066,;EDNRA,non_coding_transcript_exon_variant,,ENST00000503721,;EDNRA,3_prime_UTR_variant,,ENST00000510697,;	1846	42	34	SUCCESS
TECRL	253017	.	GRCh37	4	65145654	65145654	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	104	0	ENST00000381210.3:c.*136A>T			ENST00000381210	NM_001010874.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33990.1	.	MUTECT|MUSE	.	AATTTTACTAT	NONE	.	.	.	.	.	ENSP00000370607	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000381210	Transcript	.	.	ENSG00000205678	27365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TECRL_HUMAN	TECRL	HGNC	D6RBZ3_HUMAN	.	UPI0000141A54	SNV	TECRL,3_prime_UTR_variant,,ENST00000381210,;TECRL,intron_variant,,ENST00000507440,;TECRL,downstream_gene_variant,,ENST00000511997,;	1339	104	86	SUCCESS
PTPN13	5783	.	GRCh37	4	87735916	87735916	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	15	0	ENST00000411767.2:c.*212T>A			ENST00000411767				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47093.1	.	MUTECT|MUSE	.	AAATTTTAACA	NONE	.	.	.	.	.	ENSP00000394794	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000436978	Transcript	.	.	ENSG00000163629	9646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTN13_HUMAN	PTPN13	HGNC	Q4W5F5_HUMAN,D6R9X4_HUMAN	.	UPI000016075D	SNV	PTPN13,3_prime_UTR_variant,,ENST00000411767,;PTPN13,3_prime_UTR_variant,,ENST00000436978,;PTPN13,3_prime_UTR_variant,,ENST00000316707,;PTPN13,3_prime_UTR_variant,,ENST00000511467,;PTPN13,3_prime_UTR_variant,,ENST00000427191,;	8165	15	17	SUCCESS
PLAC8L1	153770	.	GRCh37	5	145463968	145463968	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs559186284	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	52	0	ENST00000311450.4:c.*27C>T			ENST00000311450	NM_001029869.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34264.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGGGAGTAA	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000309087	.	4/4	.	.	.	.	.	.	.	.	rs559186284	4/4	PASS	ENST00000311450	Transcript	.	.	ENSG00000173261	31746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PL8L1_HUMAN	PLAC8L1	HGNC	.	.	UPI000015FDFA	SNV	PLAC8L1,3_prime_UTR_variant,,ENST00000311450,;SH3RF2,downstream_gene_variant,,ENST00000511217,;PLAC8L1,3_prime_UTR_variant,,ENST00000512998,;	619	52	57	SUCCESS
CDKAL1	54901	.	GRCh37	6	21231335	21231335	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	77	0	ENST00000274695.4:c.*65G>A			ENST00000274695	NM_017774.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4546.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACAGGAAAGC	NONE	.	.	.	.	.	ENSP00000274695	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000274695	Transcript	.	.	ENSG00000145996	21050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDKAL_HUMAN	CDKAL1	HGNC	.	.	UPI000013DA21	SNV	CDKAL1,3_prime_UTR_variant,,ENST00000274695,;CDKAL1,3_prime_UTR_variant,,ENST00000378610,;CDKAL1,3_prime_UTR_variant,,ENST00000378624,;CDKAL1,non_coding_transcript_exon_variant,,ENST00000476517,;	1972	77	62	SUCCESS
ELOVL4	6785	.	GRCh37	6	80626136	80626136	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	44	0	ENST00000369816.4:c.*189T>C			ENST00000369816	NM_022726.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4992.1	.	MUTECT|MUSE	.	AAAATAAAAAC	NONE	.	.	.	.	.	ENSP00000358831	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369816	Transcript	.	.	ENSG00000118402	14415	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELOV4_HUMAN	ELOVL4	HGNC	.	.	UPI0000049DA1	SNV	ELOVL4,3_prime_UTR_variant,,ENST00000369816,;	1435	44	43	SUCCESS
ATP6V1C1	528	.	GRCh37	8	104081076	104081076	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-4073-01	TCGA-BC-4073-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	9	0	ENST00000395862.3:c.*101G>T			ENST00000395862	NM_001695.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6296.1	.	MUTECT|MUSE	.	TGCTTGCTTCT	NONE	.	.	.	.	.	ENSP00000379203	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000395862	Transcript	.	.	ENSG00000155097	856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VATC1_HUMAN	ATP6V1C1	HGNC	E7EV59_HUMAN	.	UPI0000049C2A	SNV	ATP6V1C1,3_prime_UTR_variant,,ENST00000521514,;ATP6V1C1,3_prime_UTR_variant,,ENST00000518857,;ATP6V1C1,3_prime_UTR_variant,,ENST00000518738,;ATP6V1C1,3_prime_UTR_variant,,ENST00000395862,;ATP6V1C1,downstream_gene_variant,,ENST00000518959,;	1409	9	12	SUCCESS
ATP6V1C1	528	.	GRCh37	8	104081077	104081077	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs770430487	.	TCGA-BC-4073-01	TCGA-BC-4073-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	9	0	ENST00000395862.3:c.*102C>T			ENST00000395862	NM_001695.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6296.1	.	MUTECT|MUSE	.	GCTTGCTTCTT	NONE	.	.	.	.	.	ENSP00000379203	.	13/13	.	.	.	.	.	.	.	.	rs770430487	13/13	PASS	ENST00000395862	Transcript	.	.	ENSG00000155097	856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VATC1_HUMAN	ATP6V1C1	HGNC	E7EV59_HUMAN	.	UPI0000049C2A	SNV	ATP6V1C1,3_prime_UTR_variant,,ENST00000521514,;ATP6V1C1,3_prime_UTR_variant,,ENST00000518857,;ATP6V1C1,3_prime_UTR_variant,,ENST00000518738,;ATP6V1C1,3_prime_UTR_variant,,ENST00000395862,;ATP6V1C1,downstream_gene_variant,,ENST00000518959,;	1410	9	12	SUCCESS
TPM4	7171	.	GRCh37	19	16186928	16186928	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	83	162	0				ENST00000300933	NM_003290.2	62		0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS46007.1	186	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGAGGACCT	NONE	.	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269:SF40,hmmpanther:PTHR19269,Pfam_domain:PF00261,Gene3D:1.20.5.340,Superfamily_domains:SSF57997	.	.	ENSP00000439135	.	2/10	.	.	.	.	.	.	.	.	.	2/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.381)	.	deleterious(0.04)	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,missense_variant,p.Glu46Asp,ENST00000586499,;TPM4,missense_variant,p.Glu62Asp,ENST00000344824,;TPM4,missense_variant,p.Glu25Asp,ENST00000586833,;TPM4,missense_variant,p.Glu62Asp,ENST00000589897,;TPM4,missense_variant,p.Glu62Asp,ENST00000538887,;TPM4,5_prime_UTR_variant,,ENST00000588507,;TPM4,upstream_gene_variant,,ENST00000300933,;TPM4,upstream_gene_variant,,ENST00000588410,;TPM4,upstream_gene_variant,,ENST00000588483,;TPM4,upstream_gene_variant,,ENST00000590180,;TPM4,upstream_gene_variant,,ENST00000587201,;	273	162	156	SUCCESS
RHOB	388	.	GRCh37	2	20648318	20648318	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	18	52	0	ENST00000272233.4:c.*501A>C			ENST00000272233	NM_004040.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1699.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGATATAA	NONE	.	.	.	.	.	ENSP00000272233	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000272233	Transcript	.	.	ENSG00000143878	668	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOB_HUMAN	RHOB	HGNC	B4DMJ8_HUMAN	.	UPI0000021989	SNV	RHOB,3_prime_UTR_variant,,ENST00000272233,;AC023137.2,upstream_gene_variant,,ENST00000448241,;	1484	52	32	SUCCESS
REXO1L1P	254958	.	GRCh37	8	86569766	86569766	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs4092912	.	TCGA-BC-A10Q-01	TCGA-BC-A10Q-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	15	0	ENST00000379010.2:c.*3933A>T			ENST00000379010	NM_172239.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	AGAGGTGAGAA	NONE	byCluster	.	.	.	.	ENSP00000368295	.	1/1	.	.	.	.	.	.	.	.	rs4092912	1/1	PASS	ENST00000379010	Transcript	.	.	ENSG00000205176	24660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOR_HUMAN	REXO1L1P	HGNC	.	.	UPI000057A11F	SNV	REXO1L1P,3_prime_UTR_variant,,ENST00000379010,;REXO1L3P,upstream_gene_variant,,ENST00000608646,;	5961	15	16	SUCCESS
OR5AL1	79482	.	GRCh37	11	56185374	56185374	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs372445913	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	57	0				ENST00000440231		112		0	T:0	.	.	.	.	G	C/S	protein_coding	YES	CCDS31530.1	335	RADIA|MUTECT|MUSE	.	GGAAACACTCA	NONE	byFrequency|byCluster	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	.	T:0.0001	ENSP00000308595	.	1/1	.	.	.	.	.	.	.	.	rs372445913	1/1	PASS	ENST00000312253	Transcript	.	.	ENSG00000174942	14841	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.018)	.	tolerated(0.06)	.	OR5R1_HUMAN	OR5R1	HGNC	.	.	UPI000004B225	SNV	OR5R1,missense_variant,p.Cys112Ser,ENST00000312253,;OR5AL1,downstream_gene_variant,,ENST00000327258,;OR5AL1,downstream_gene_variant,,ENST00000440231,;	335	57	19	SUCCESS
SMCO2	341346	.	GRCh37	12	27655104	27655104	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	24	113	0	ENST00000416383.1:c.*50G>T			ENST00000416383	NM_001145010.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44852.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACATTGTGGCT	NONE	.	.	.	.	.	ENSP00000387617	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000416383	Transcript	.	.	ENSG00000165935	34448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMCO2_HUMAN	SMCO2	HGNC	.	.	UPI000166275D	SNV	SMCO2,3_prime_UTR_variant,,ENST00000298876,;SMCO2,3_prime_UTR_variant,,ENST00000535986,;SMCO2,3_prime_UTR_variant,,ENST00000416383,;SMCO2,downstream_gene_variant,,ENST00000541168,;RP13-200J3.2,downstream_gene_variant,,ENST00000542842,;	1258	113	86	SUCCESS
PHF21B	112885	.	GRCh37	22	45278947	45278947	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	49	0	ENST00000313237.5:c.*19C>T			ENST00000313237	NM_138415.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14061.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGTATGAAGAC	NONE	.	.	.	.	.	ENSP00000324403	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000313237	Transcript	.	.	ENSG00000056487	25161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PF21B_HUMAN	PHF21B	HGNC	B3KTL5_HUMAN	.	UPI0000072111	SNV	PHF21B,3_prime_UTR_variant,,ENST00000396103,;PHF21B,3_prime_UTR_variant,,ENST00000313237,;PHF21B,3_prime_UTR_variant,,ENST00000404079,;PHF21B,3_prime_UTR_variant,,ENST00000403565,;PHF21B,downstream_gene_variant,,ENST00000447824,;	1766	49	50	SUCCESS
MYO7B	4648	.	GRCh37	2	128395090	128395090	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	23	0	ENST00000409816.2:c.*98C>A			ENST00000409816				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46405.1	.	MUTECT|MUSE	.	GCGGGCAGCCT	NONE	.	.	.	.	.	ENSP00000415090	.	47/47	.	.	.	.	.	.	.	.	.	47/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,3_prime_UTR_variant,,ENST00000409816,;MYO7B,3_prime_UTR_variant,,ENST00000389524,;MYO7B,3_prime_UTR_variant,,ENST00000428314,;MYO7B,3_prime_UTR_variant,,ENST00000409090,;LIMS2,downstream_gene_variant,,ENST00000409254,;LIMS2,downstream_gene_variant,,ENST00000410038,;LIMS2,downstream_gene_variant,,ENST00000409455,;LIMS2,downstream_gene_variant,,ENST00000355119,;LIMS2,downstream_gene_variant,,ENST00000409286,;LIMS2,downstream_gene_variant,,ENST00000426981,;LIMS2,downstream_gene_variant,,ENST00000410011,;LIMS2,downstream_gene_variant,,ENST00000324938,;LIMS2,downstream_gene_variant,,ENST00000545738,;LIMS2,downstream_gene_variant,,ENST00000409754,;LIMS2,downstream_gene_variant,,ENST00000409808,;LIMS2,downstream_gene_variant,,ENST00000582671,;LIMS2,downstream_gene_variant,,ENST00000494613,;MYO7B,non_coding_transcript_exon_variant,,ENST00000494959,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;LIMS2,downstream_gene_variant,,ENST00000476932,;LIMS2,downstream_gene_variant,,ENST00000413578,;LIMS2,downstream_gene_variant,,ENST00000466410,;LIMS2,downstream_gene_variant,,ENST00000469300,;LIMS2,downstream_gene_variant,,ENST00000484252,;	6502	23	13	SUCCESS
PASD1	139135	.	GRCh37	X	150844641	150844641	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	20	214	0	ENST00000370357.4:c.*26G>A			ENST00000370357	NM_173493.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35431.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGGGAAA	NONE	.	.	.	.	.	ENSP00000359382	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000370357	Transcript	.	.	ENSG00000166049	20686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PASD1_HUMAN	PASD1	HGNC	.	.	UPI0000074686	SNV	PASD1,3_prime_UTR_variant,,ENST00000370357,;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,downstream_gene_variant,,ENST00000413236,;	2593	214	127	SUCCESS
PLP2	5355	.	GRCh37	X	49032070	49032070	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-BC-A10R-01	TCGA-BC-A10R-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	18	91	0				ENST00000376327	NM_002668.2	600		0	.	.	.	.	.	A	R	protein_coding	YES	CCDS14320.1	1800	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCGCGAGA	NONE	.	.	hmmpanther:PTHR24218	.	.	ENSP00000365494	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000376317	Transcript	.	.	ENSG00000012211	6645	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRIC3_HUMAN	PRICKLE3	HGNC	F5H4N2_HUMAN	.	UPI000004B120	SNV	PRICKLE3,synonymous_variant,p.%3D,ENST00000453382,;PRICKLE3,synonymous_variant,p.%3D,ENST00000536904,;PRICKLE3,synonymous_variant,p.%3D,ENST00000540849,;PRICKLE3,synonymous_variant,p.%3D,ENST00000538114,;PRICKLE3,synonymous_variant,p.%3D,ENST00000376317,;PLP2,downstream_gene_variant,,ENST00000376327,;PRICKLE3,downstream_gene_variant,,ENST00000376310,;PRICKLE3,downstream_gene_variant,,ENST00000432913,;PLP2,downstream_gene_variant,,ENST00000376322,;	1895	91	84	SUCCESS
ABHD2	11057	.	GRCh37	15	89745077	89745077	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1054256088	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000352732.5:c.*6423C>T			ENST00000352732	NM_152924.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10348.1	.	MUTECT|MUSE	.	GGGGGCGGGGG	NONE	.	.	.	.	.	ENSP00000268129	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000352732	Transcript	.	.	ENSG00000140526	18717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABHD2_HUMAN	ABHD2	HGNC	H3BUZ6_HUMAN,H3BN19_HUMAN,H3BMT2_HUMAN	.	UPI000012E24E	SNV	ABHD2,3_prime_UTR_variant,,ENST00000352732,;ABHD2,3_prime_UTR_variant,,ENST00000355100,;RP11-326A19.5,upstream_gene_variant,,ENST00000563131,;	8221	11	9	SUCCESS
KRT23	25984	.	GRCh37	17	39079084	39079084	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	18	37	0	ENST00000209718.3:c.*157T>A			ENST00000209718	NM_015515.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11380.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATTATGAGA	NONE	.	.	.	.	.	ENSP00000209718	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000209718	Transcript	.	.	ENSG00000108244	6438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C23_HUMAN	KRT23	HGNC	K7EPI0_HUMAN,I3L3Q6_HUMAN	.	UPI000013C66F	SNV	KRT23,3_prime_UTR_variant,,ENST00000436344,;KRT23,3_prime_UTR_variant,,ENST00000209718,;AC004231.2,intron_variant,,ENST00000418393,;KRT23,3_prime_UTR_variant,,ENST00000462312,;KRT23,downstream_gene_variant,,ENST00000582754,;	1851	37	31	SUCCESS
PSENEN	55851	.	GRCh37	19	36237826	36237826	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	9	28	0	ENST00000222266.2:c.*78C>T			ENST00000222266	NM_001281532.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12474.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCCCTTC	NONE	.	.	.	.	.	ENSP00000468411	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000587708	Transcript	1	.	ENSG00000205155	30100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEN2_HUMAN	PSENEN	HGNC	K7ERS5_HUMAN	.	UPI000006FFC1	SNV	PSENEN,3_prime_UTR_variant,,ENST00000222266,;PSENEN,3_prime_UTR_variant,,ENST00000587708,;PSENEN,3_prime_UTR_variant,,ENST00000591949,;U2AF1L4,upstream_gene_variant,,ENST00000378975,;LIN37,upstream_gene_variant,,ENST00000301159,;IGFLR1,upstream_gene_variant,,ENST00000246532,;IGFLR1,upstream_gene_variant,,ENST00000344990,;U2AF1L4,upstream_gene_variant,,ENST00000292879,;U2AF1L4,upstream_gene_variant,,ENST00000412391,;LIN37,upstream_gene_variant,,ENST00000587751,;IGFLR1,upstream_gene_variant,,ENST00000588992,;IGFLR1,upstream_gene_variant,,ENST00000592537,;AC002398.11,downstream_gene_variant,,ENST00000591091,;AC002398.11,downstream_gene_variant,,ENST00000585365,;LIN37,upstream_gene_variant,,ENST00000591076,;U2AF1L4,upstream_gene_variant,,ENST00000588100,;AC002398.9,intron_variant,,ENST00000591613,;U2AF1L4,upstream_gene_variant,,ENST00000585554,;U2AF1L4,upstream_gene_variant,,ENST00000591084,;U2AF1L4,upstream_gene_variant,,ENST00000586476,;U2AF1L4,upstream_gene_variant,,ENST00000587987,;U2AF1L4,upstream_gene_variant,,ENST00000600296,;U2AF1L4,upstream_gene_variant,,ENST00000590135,;U2AF1L4,upstream_gene_variant,,ENST00000594792,;IGFLR1,upstream_gene_variant,,ENST00000588018,;U2AF1L4,upstream_gene_variant,,ENST00000592913,;U2AF1L4,upstream_gene_variant,,ENST00000591057,;LIN37,upstream_gene_variant,,ENST00000587108,;IGFLR1,upstream_gene_variant,,ENST00000589175,;U2AF1L4,upstream_gene_variant,,ENST00000587886,;U2AF1L4,upstream_gene_variant,,ENST00000589429,;U2AF1L4,upstream_gene_variant,,ENST00000601236,;AD000671.6,upstream_gene_variant,,ENST00000589807,;U2AF1L4,upstream_gene_variant,,ENST00000591855,;U2AF1L4,upstream_gene_variant,,ENST00000590650,;U2AF1L4,upstream_gene_variant,,ENST00000588980,;U2AF1L4,upstream_gene_variant,,ENST00000588892,;U2AF1L4,upstream_gene_variant,,ENST00000585771,;LIN37,upstream_gene_variant,,ENST00000595455,;LIN37,upstream_gene_variant,,ENST00000590706,;LIN37,upstream_gene_variant,,ENST00000592871,;	1067	28	41	SUCCESS
CNTD2	0	.	GRCh37	19	40728778	40728778	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	12	0	ENST00000430325.2:c.*181G>T			ENST00000430325	NM_024877.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12551.2	.	MUTECT|MUSE	.	GAGGACTCGAG	NONE	.	.	.	.	.	ENSP00000396755	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000430325	Transcript	.	.	ENSG00000105219	25805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTD2_HUMAN	CNTD2	HGNC	D6RCS3_HUMAN	.	UPI00017A831A	SNV	CNTD2,3_prime_UTR_variant,,ENST00000430325,;CNTD2,intron_variant,,ENST00000599263,;CNTD2,downstream_gene_variant,,ENST00000513948,;CNTD2,downstream_gene_variant,,ENST00000433940,;TTC9B,upstream_gene_variant,,ENST00000311308,;CNTD2,3_prime_UTR_variant,,ENST00000221818,;CNTD2,intron_variant,,ENST00000593335,;TTC9B,upstream_gene_variant,,ENST00000593586,;	1154	12	18	SUCCESS
C1orf53	388722	.	GRCh37	1	197876409	197876409	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	530	190	236	0	ENST00000367393.3:c.*59A>G			ENST00000367393	NM_001024594.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44290.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAATTCAG	NONE	.	.	.	.	.	ENSP00000356363	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367393	Transcript	.	.	ENSG00000203724	30003	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA053_HUMAN	C1orf53	HGNC	.	.	UPI00001AFA8A	SNV	C1orf53,3_prime_UTR_variant,,ENST00000436652,;C1orf53,3_prime_UTR_variant,,ENST00000367393,;C1orf53,non_coding_transcript_exon_variant,,ENST00000542800,;LHX9,upstream_gene_variant,,ENST00000606127,;	500	236	720	SUCCESS
INSM1	3642	.	GRCh37	20	20350563	20350563	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	41	58	0	ENST00000310227.1:c.*119C>A			ENST00000310227	NM_002196.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13143.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCGGGTG	NONE	.	.	.	.	.	ENSP00000312631	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310227	Transcript	.	.	ENSG00000173404	6090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM1_HUMAN	INSM1	HGNC	.	.	UPI0000046C2F	SNV	INSM1,3_prime_UTR_variant,,ENST00000310227,;	1799	58	99	SUCCESS
GRIK1	2897	.	GRCh37	21	30909389	30909389	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	36	0	ENST00000327783.4:c.*162T>A			ENST00000327783				0	.	.	.	.	.	T	.	protein_coding	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATATCTAT	NONE	.	.	.	.	.	ENSP00000327687	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000327783	Transcript	.	.	ENSG00000171189	4579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIK1	HGNC	Q9UNN1_HUMAN,Q71UA3_HUMAN,E7ENK3_HUMAN	.	UPI0000E5A39C	SNV	GRIK1,3_prime_UTR_variant,,ENST00000327783,;GRIK1,3_prime_UTR_variant,,ENST00000399914,;GRIK1,3_prime_UTR_variant,,ENST00000399913,;GRIK1,3_prime_UTR_variant,,ENST00000389125,;BACH1,intron_variant,,ENST00000468059,;BACH1,intron_variant,,ENST00000422809,;GRIK1,downstream_gene_variant,,ENST00000389124,;GRIK1,downstream_gene_variant,,ENST00000535441,;	3044	36	39	SUCCESS
FTCD	10841	.	GRCh37	21	47556254	47556254	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1031795139	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	18	0	ENST00000291670.5:c.*157C>T			ENST00000291670	NM_006657.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13731.1	.	MUTECT|MUSE	.	GGGAGGAAAAG	NONE	.	.	.	.	.	ENSP00000291670	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000291670	Transcript	.	.	ENSG00000160282	3974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FTCD_HUMAN	FTCD	HGNC	Q49AR5_HUMAN,D3DSM8_HUMAN	.	UPI000012AC75	SNV	FTCD,3_prime_UTR_variant,,ENST00000359679,;FTCD,3_prime_UTR_variant,,ENST00000291670,;FTCD,3_prime_UTR_variant,,ENST00000355384,;FTCD,3_prime_UTR_variant,,ENST00000397748,;FTCD,downstream_gene_variant,,ENST00000397746,;FTCD,downstream_gene_variant,,ENST00000397743,;COL6A2,downstream_gene_variant,,ENST00000300527,;FTCD,downstream_gene_variant,,ENST00000446405,;FTCD,non_coding_transcript_exon_variant,,ENST00000460011,;FTCD,non_coding_transcript_exon_variant,,ENST00000498355,;FTCD,non_coding_transcript_exon_variant,,ENST00000483568,;FTCD,downstream_gene_variant,,ENST00000488577,;FTCD,downstream_gene_variant,,ENST00000494498,;	1827	18	28	SUCCESS
KDELR3	11015	.	GRCh37	22	38878578	38878578	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs202085530	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	112	70	149	0	ENST00000216014.4:c.*37T>C			ENST00000216014	NM_006855.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46705.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACATGAAGG	NONE	byCluster	938	.	.	.	ENSP00000386918	.	.	.	.	.	.	.	.	.	.	rs202085530	.	PASS	ENST00000409006	Transcript	.	.	ENSG00000100196	6306	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERD23_HUMAN	KDELR3	HGNC	.	.	UPI00001614FD	SNV	KDELR3,3_prime_UTR_variant,,ENST00000216014,;DDX17,downstream_gene_variant,,ENST00000444597,;DDX17,downstream_gene_variant,,ENST00000403230,;DDX17,downstream_gene_variant,,ENST00000396821,;DDX17,downstream_gene_variant,,ENST00000381633,;KDELR3,downstream_gene_variant,,ENST00000409006,;KDELR3,non_coding_transcript_exon_variant,,ENST00000471268,;DDX17,downstream_gene_variant,,ENST00000431312,;DDX17,downstream_gene_variant,,ENST00000216019,;	.	149	183	SUCCESS
BLOC1S4	55330	.	GRCh37	4	6718594	6718594	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	59	0	ENST00000320776.3:c.*4C>A			ENST00000320776	NM_018366.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3393.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGGCCTGAC	NONE	.	.	.	.	.	ENSP00000318128	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320776	Transcript	.	.	ENSG00000186222	24206	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S4_HUMAN	BLOC1S4	HGNC	.	.	UPI0000073D20	SNV	BLOC1S4,3_prime_UTR_variant,,ENST00000320776,;	753	59	108	SUCCESS
NPR3	4883	.	GRCh37	5	32791214	32791214	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	193	99	176	0	ENST00000265074.8:c.*4763A>T			ENST00000265074	NM_001204375.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56357.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACAGGGTG	NONE	.	.	.	.	.	ENSP00000265074	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,3_prime_UTR_variant,,ENST00000265074,;AC026703.1,3_prime_UTR_variant,,ENST00000326958,;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415167,;NPR3,downstream_gene_variant,,ENST00000415685,;	6732	176	292	SUCCESS
SOX17	64321	.	GRCh37	8	55372609	55372609	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs1405900947	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	12	0	ENST00000297316.4:c.*54T>A			ENST00000297316	NM_022454.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6159.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCTGGAGG	NONE	.	.	.	.	.	ENSP00000297316	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297316	Transcript	1	.	ENSG00000164736	18122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX17_HUMAN	SOX17	HGNC	Q2T9L5_HUMAN,Q2NKK5_HUMAN	.	UPI00001362B7	SNV	SOX17,3_prime_UTR_variant,,ENST00000297316,;	1503	12	23	SUCCESS
TMC1	117531	.	GRCh37	9	75451032	75451032	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10T-01	TCGA-BC-A10T-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	9	0	ENST00000297784.5:c.*143A>G			ENST00000297784	NM_138691.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6643.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCAATTAA	NONE	.	.	.	.	.	ENSP00000297784	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000297784	Transcript	.	.	ENSG00000165091	16513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC1_HUMAN	TMC1	HGNC	.	.	UPI0000161FA9	SNV	TMC1,3_prime_UTR_variant,,ENST00000297784,;TMC1,3_prime_UTR_variant,,ENST00000340019,;TMC1,downstream_gene_variant,,ENST00000396237,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;	2966	9	15	SUCCESS
SFTPA2	729238	.	GRCh37	10	81316116	81316116	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	27	29	0	ENST00000372325.2:c.*849T>A			ENST00000372325	NM_001098668.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41540.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGATTATC	NONE	.	.	.	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,3_prime_UTR_variant,,ENST00000372325,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	1681	29	57	SUCCESS
ZFYVE27	118813	.	GRCh37	10	99519066	99519066	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	51	74	0	ENST00000393677.4:c.*9G>A			ENST00000393677	NM_144588.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31262.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGCCAGG	NONE	.	.	.	.	.	ENSP00000348593	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000356257	Transcript	1	.	ENSG00000155256	26559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY27_HUMAN	ZFYVE27	HGNC	.	.	UPI00003FE526	SNV	ZFYVE27,3_prime_UTR_variant,,ENST00000370613,;ZFYVE27,3_prime_UTR_variant,,ENST00000423811,;ZFYVE27,3_prime_UTR_variant,,ENST00000337540,;ZFYVE27,3_prime_UTR_variant,,ENST00000393677,;ZFYVE27,3_prime_UTR_variant,,ENST00000359980,;ZFYVE27,3_prime_UTR_variant,,ENST00000357540,;ZFYVE27,3_prime_UTR_variant,,ENST00000370610,;ZFYVE27,3_prime_UTR_variant,,ENST00000356257,;ZFYVE27,downstream_gene_variant,,ENST00000453958,;ZFYVE27,non_coding_transcript_exon_variant,,ENST00000477521,;ZFYVE27,downstream_gene_variant,,ENST00000473237,;	1261	74	108	SUCCESS
ILK	3611	.	GRCh37	11	6631843	6631843	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	25	40	0	ENST00000299421.4:c.*1G>A			ENST00000299421	NM_004517.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7768.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGGACTGG	NONE	.	.	.	.	.	ENSP00000379975	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000396751	Transcript	.	.	ENSG00000166333	6040	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ILK_HUMAN	ILK	HGNC	B7Z1I0_HUMAN	.	UPI0000000DC2	SNV	ILK,3_prime_UTR_variant,,ENST00000528995,;ILK,3_prime_UTR_variant,,ENST00000420936,;ILK,3_prime_UTR_variant,,ENST00000396751,;ILK,3_prime_UTR_variant,,ENST00000537806,;ILK,3_prime_UTR_variant,,ENST00000299421,;TAF10,downstream_gene_variant,,ENST00000299424,;TPP1,downstream_gene_variant,,ENST00000533371,;TPP1,downstream_gene_variant,,ENST00000299427,;RP11-732A19.2,upstream_gene_variant,,ENST00000527398,;ILK,non_coding_transcript_exon_variant,,ENST00000526318,;ILK,downstream_gene_variant,,ENST00000534706,;ILK,downstream_gene_variant,,ENST00000526711,;ILK,downstream_gene_variant,,ENST00000528784,;TPP1,downstream_gene_variant,,ENST00000524924,;TAF10,downstream_gene_variant,,ENST00000531760,;TPP1,downstream_gene_variant,,ENST00000524611,;ILK,downstream_gene_variant,,ENST00000524735,;TPP1,downstream_gene_variant,,ENST00000532191,;ILK,downstream_gene_variant,,ENST00000530016,;TAF10,downstream_gene_variant,,ENST00000527248,;ILK,3_prime_UTR_variant,,ENST00000527327,;ILK,3_prime_UTR_variant,,ENST00000532063,;TAF10,non_coding_transcript_exon_variant,,ENST00000526743,;ILK,downstream_gene_variant,,ENST00000526114,;ILK,downstream_gene_variant,,ENST00000527394,;TAF10,downstream_gene_variant,,ENST00000532344,;ILK,downstream_gene_variant,,ENST00000527121,;	1816	40	66	SUCCESS
P2RY2	5029	.	GRCh37	11	72947031	72947031	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs184775232	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	51	69	3	ENST00000311131.2:c.*693A>C			ENST00000311131	NM_176072.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8219.1	.	MUTECT|MUSE	.	CTTTCACCAGC	NONE	byCluster|by1000G	.	.	.	.	ENSP00000310305	.	3/3	.	.	.	.	.	.	.	.	rs184775232	3/3	PASS	ENST00000311131	Transcript	.	.	ENSG00000175591	8541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P2RY2_HUMAN	P2RY2	HGNC	.	.	UPI000013F103	SNV	P2RY2,3_prime_UTR_variant,,ENST00000311131,;P2RY2,downstream_gene_variant,,ENST00000393597,;P2RY2,downstream_gene_variant,,ENST00000393596,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	2294	73	198	SUCCESS
COPS7A	50813	.	GRCh37	12	6840223	6840223	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs749656456	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	37	0	ENST00000229251.3:c.*18C>T			ENST00000229251	NM_016319.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8558.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCCTGG	NONE	.	.	.	.	.	ENSP00000438115	.	8/8	.	.	.	.	.	.	.	.	rs749656456	8/8	PASS	ENST00000543155	Transcript	.	.	ENSG00000111652	16758	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN7A_HUMAN	COPS7A	HGNC	F5H7C6_HUMAN,F5H4U8_HUMAN,F5GYF7_HUMAN	.	UPI0000035DA4	SNV	COPS7A,missense_variant,p.Pro232Ser,ENST00000538410,;COPS7A,3_prime_UTR_variant,,ENST00000534877,;COPS7A,3_prime_UTR_variant,,ENST00000543155,;COPS7A,3_prime_UTR_variant,,ENST00000229251,;COPS7A,3_prime_UTR_variant,,ENST00000539735,;COPS7A,3_prime_UTR_variant,,ENST00000534947,;COPS7A,downstream_gene_variant,,ENST00000544725,;COPS7A,downstream_gene_variant,,ENST00000538753,;COPS7A,downstream_gene_variant,,ENST00000541866,;COPS7A,downstream_gene_variant,,ENST00000542150,;COPS7A,3_prime_UTR_variant,,ENST00000543939,;COPS7A,3_prime_UTR_variant,,ENST00000538375,;COPS7A,3_prime_UTR_variant,,ENST00000455113,;COPS7A,downstream_gene_variant,,ENST00000546229,;COPS7A,downstream_gene_variant,,ENST00000540408,;COPS7A,downstream_gene_variant,,ENST00000543170,;COPS7A,downstream_gene_variant,,ENST00000537022,;COPS7A,downstream_gene_variant,,ENST00000543537,;COPS7A,downstream_gene_variant,,ENST00000536872,;COPS7A,downstream_gene_variant,,ENST00000542630,;	1328	37	54	SUCCESS
TRIM13	10206	.	GRCh37	13	50589145	50589146	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	30	18	24	0	ENST00000378182.3:c.*1848dup			ENST00000378182	NM_213590.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41888.1	.	INDELOCATOR|VARSCANI	.	AAAACGTTTAA	NONE	.	1829	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	insertion	TRIM13,3_prime_UTR_variant,,ENST00000378182,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,downstream_gene_variant,,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	24	48	SUCCESS
C14orf39	317761	.	GRCh37	14	60903550	60903550	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	43	67	0	ENST00000321731.3:c.*13T>A			ENST00000321731	NM_174978.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9746.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAATTAAT	NONE	.	.	.	.	.	ENSP00000324920	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000321731	Transcript	.	.	ENSG00000179008	19849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6OS1_HUMAN	C14orf39	HGNC	G3V493_HUMAN,G3V3U9_HUMAN	.	UPI0000140C15	SNV	C14orf39,3_prime_UTR_variant,,ENST00000321731,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;C14orf39,intron_variant,,ENST00000498565,;	1937	67	115	SUCCESS
CCL17	6361	.	GRCh37	16	57449875	57449875	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	12	0	ENST00000219244.4:c.*102C>A			ENST00000219244	NM_002987.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10780.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGCCTTCC	NONE	.	.	.	.	.	ENSP00000219244	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000219244	Transcript	.	.	ENSG00000102970	10615	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCL17_HUMAN	CCL17	HGNC	.	.	UPI00001362D9	SNV	CCL17,3_prime_UTR_variant,,ENST00000219244,;	516	12	17	SUCCESS
KRT37	8688	.	GRCh37	17	39577046	39577046	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	14	0	ENST00000225550.3:c.*84T>A			ENST00000225550	NM_003770.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32653.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCTAGTCTT	NONE	.	.	.	.	.	ENSP00000225550	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000225550	Transcript	.	.	ENSG00000108417	6455	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT37_HUMAN	KRT37	HGNC	.	.	UPI000000DC9A	SNV	KRT37,3_prime_UTR_variant,,ENST00000225550,;AC003958.2,intron_variant,,ENST00000432258,;	1434	14	20	SUCCESS
ATP13A1	57130	.	GRCh37	19	19756175	19756175	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	53	0	ENST00000357324.6:c.*56A>G			ENST00000357324	NM_020410.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32970.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGTTGGGG	NONE	.	.	.	.	.	ENSP00000349877	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,3_prime_UTR_variant,,ENST00000291503,;ATP13A1,3_prime_UTR_variant,,ENST00000357324,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000203556,;GMIP,upstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000445806,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	3698	53	45	SUCCESS
VN1R85P	100312830	.	GRCh37	19	22362653	22362653	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs915492123	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	27	32	0				ENST00000601587				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42539.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCCACAT	NONE	.	.	.	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,3_prime_UTR_variant,,ENST00000397121,;VN1R85P,upstream_gene_variant,,ENST00000601587,;	2184	33	67	SUCCESS
FAM110D	79927	.	GRCh37	1	26488999	26488999	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	51	53	0	ENST00000374268.3:c.*401C>T			ENST00000374268	NM_024869.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41285.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCACCCCTCG	NONE	.	.	.	.	.	ENSP00000363386	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374268	Transcript	.	.	ENSG00000197245	25860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F110D_HUMAN	FAM110D	HGNC	.	.	UPI000006DD1D	SNV	FAM110D,3_prime_UTR_variant,,ENST00000374268,;	1404	53	112	SUCCESS
SLC40A1	30061	.	GRCh37	2	190426407	190426407	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	9	0	ENST00000261024.2:c.*197A>C			ENST00000261024	NM_014585.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2299.1	.	SOMATICSNIPER|MUTECT|MUSE	.	TTTTTTTTCCA	NONE	.	.	.	.	.	ENSP00000261024	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261024	Transcript	.	.	ENSG00000138449	10909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S40A1_HUMAN	SLC40A1	HGNC	Q4PNE6_HUMAN,E7ES28_HUMAN,E7EQF8_HUMAN	.	UPI0000034CC2	SNV	SLC40A1,3_prime_UTR_variant,,ENST00000261024,;SLC40A1,downstream_gene_variant,,ENST00000427241,;	2340	9	14	SUCCESS
PAIP2B	400961	.	GRCh37	2	71415460	71415460	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	24	0	ENST00000244221.8:c.*149A>G			ENST00000244221	NM_020459.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46322.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGTTACTC	NONE	.	.	.	.	.	ENSP00000244221	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000244221	Transcript	.	.	ENSG00000124374	29200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAI2B_HUMAN	PAIP2B	HGNC	.	.	UPI000013CB61	SNV	PAIP2B,3_prime_UTR_variant,,ENST00000244221,;	688	24	25	SUCCESS
MRPS18C	51023	.	GRCh37	4	84382408	84382408	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	41	36	0	ENST00000295491.4:c.*58A>C			ENST00000295491	NM_016067.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAATACTG	NONE	.	.	.	.	.	ENSP00000295491	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295491	Transcript	.	.	ENSG00000163319	16633	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT18C_HUMAN	MRPS18C	HGNC	.	.	UPI0000132F3B	SNV	MRPS18C,3_prime_UTR_variant,,ENST00000507019,;MRPS18C,3_prime_UTR_variant,,ENST00000295491,;FAM175A,3_prime_UTR_variant,,ENST00000321945,;MRPS18C,3_prime_UTR_variant,,ENST00000505719,;MRPS18C,intron_variant,,ENST00000509970,;MRPS18C,downstream_gene_variant,,ENST00000507349,;FAM175A,downstream_gene_variant,,ENST00000506553,;MRPS18C,intron_variant,,ENST00000509571,;FAM175A,3_prime_UTR_variant,,ENST00000475656,;MRPS18C,downstream_gene_variant,,ENST00000514581,;FAM175A,downstream_gene_variant,,ENST00000504777,;MRPS18C,downstream_gene_variant,,ENST00000512375,;MRPS18C,downstream_gene_variant,,ENST00000505525,;	600	37	63	SUCCESS
RECK	8434	.	GRCh37	9	36123240	36123240	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	9	9	0	ENST00000377966.3:c.*198G>A			ENST00000377966	NM_021111.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6597.1	.	MUTECT|MUSE	.	GTGTTGTTCCA	NONE	.	.	.	.	.	ENSP00000367202	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000377966	Transcript	.	.	ENSG00000122707	11345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RECK_HUMAN	RECK	HGNC	.	.	UPI0000133587	SNV	RECK,3_prime_UTR_variant,,ENST00000377966,;	3680	9	10	SUCCESS
SPRY3	10251	.	GRCh37	X	155004697	155004697	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10U-01	TCGA-BC-A10U-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	738	219	258	0	ENST00000302805.2:c.*297G>T			ENST00000302805	NM_005840.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14769.4	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGGCCAG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	1595	258	957	SUCCESS
FGF6	2251	.	GRCh37	12	4543378	4543378	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	125	61	218	0	ENST00000228837.2:c.*3A>G			ENST00000228837	NM_020996.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8527.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGTCCTTA	NONE	.	.	.	.	.	ENSP00000228837	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,3_prime_UTR_variant,,ENST00000228837,;FGF6,intron_variant,,ENST00000543077,;	674	218	186	SUCCESS
RAB37	326624	.	GRCh37	17	72741727	72741727	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	21	0	ENST00000392613.5:c.*177C>A			ENST00000392613	NM_001006638.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54161.1	.	RADIA|SOMATICSNIPER|MUSE	.	CTCCCCGCATC	NONE	.	.	.	.	.	ENSP00000376390	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392614	Transcript	.	.	ENSG00000172794	30268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB37_HUMAN	RAB37	HGNC	B3KPZ5_HUMAN	.	UPI0000E5A090	SNV	RAB37,3_prime_UTR_variant,,ENST00000392615,;RAB37,3_prime_UTR_variant,,ENST00000392613,;RAB37,3_prime_UTR_variant,,ENST00000392612,;RAB37,3_prime_UTR_variant,,ENST00000402449,;RAB37,3_prime_UTR_variant,,ENST00000528438,;RAB37,3_prime_UTR_variant,,ENST00000340415,;RAB37,3_prime_UTR_variant,,ENST00000392610,;RAB37,3_prime_UTR_variant,,ENST00000392614,;SLC9A3R1,upstream_gene_variant,,ENST00000583369,;SLC9A3R1,upstream_gene_variant,,ENST00000262613,;MIR3615,upstream_gene_variant,,ENST00000581999,;MIR3615,downstream_gene_variant,,ENST00000585285,;RAB37,non_coding_transcript_exon_variant,,ENST00000488977,;RAB37,non_coding_transcript_exon_variant,,ENST00000531420,;RAB37,non_coding_transcript_exon_variant,,ENST00000392617,;RAB37,intron_variant,,ENST00000481224,;RAB37,downstream_gene_variant,,ENST00000577548,;RAB37,downstream_gene_variant,,ENST00000533530,;RAB37,downstream_gene_variant,,ENST00000527040,;	957	21	14	SUCCESS
UBL4B	164153	.	GRCh37	1	110656386	110656386	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1440229997	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	176	39	134	0	ENST00000334179.3:c.*705C>T			ENST00000334179	NM_203412.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS820.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCCCACCC	NONE	.	.	.	.	.	ENSP00000334044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334179	Transcript	.	.	ENSG00000186150	32309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBL4B_HUMAN	UBL4B	HGNC	.	.	UPI0000072926	SNV	UBL4B,3_prime_UTR_variant,,ENST00000334179,;RP4-773N10.6,downstream_gene_variant,,ENST00000554808,;	1325	134	216	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145283156	145283156	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs2096092	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	10	0	ENST00000369340.3:c.*1125A>G			ENST00000369340				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS909.1	.	RADIA|SOMATICSNIPER	.	TAAGGATTAAA	NONE	byCluster	.	.	.	.	ENSP00000358346	.	6/6	.	.	.	.	.	.	.	.	rs2096092,rs28716156	6/6	PASS	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,3_prime_UTR_variant,,ENST00000369340,;NOTCH2NL,intron_variant,,ENST00000344859,;NOTCH2NL,downstream_gene_variant,,ENST00000362074,;RP11-458D21.5,intron_variant,,ENST00000468030,;	2280	10	29	SUCCESS
KREMEN1	83999	.	GRCh37	22	29538108	29538108	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs751436235	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	50	0				ENST00000407188				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13849.1	.	RADIA|VARSCANS	.	ACCCCACTGTG	NONE	byFrequency	.	.	.	.	ENSP00000331242	.	.	.	.	.	.	.	.	.	.	rs751436235	.	PASS	ENST00000327813	Transcript	.	.	ENSG00000183762	17550	.	.	MODIFIER	9/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KREM1_HUMAN	KREMEN1	HGNC	.	.	UPI000002AD01	SNV	KREMEN1,3_prime_UTR_variant,,ENST00000400335,;KREMEN1,3_prime_UTR_variant,,ENST00000400338,;KREMEN1,intron_variant,,ENST00000327813,;KREMEN1,downstream_gene_variant,,ENST00000407188,;KREMEN1,intron_variant,,ENST00000479755,;KREMEN1,downstream_gene_variant,,ENST00000474001,;KREMEN1,downstream_gene_variant,,ENST00000453585,;	.	50	44	SUCCESS
MZT2A	653784	.	GRCh37	2	132241632	132241632	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs200640575	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	73	313	0	ENST00000309451.6:c.*2A>T			ENST00000309451	NM_001085365.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42758.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCATCCTAG	NONE	.	.	.	.	.	ENSP00000311500	.	3/3	.	.	.	.	.	.	.	.	rs200640575	3/3	PASS	ENST00000309451	Transcript	.	.	ENSG00000173272	33187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MZT2A_HUMAN	MZT2A	HGNC	.	.	UPI0000421BEF	SNV	MZT2A,3_prime_UTR_variant,,ENST00000309451,;TUBA3D,downstream_gene_variant,,ENST00000321253,;MZT2A,non_coding_transcript_exon_variant,,ENST00000410036,;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000488586,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	525	313	231	SUCCESS
ARPC4	10093	.	GRCh37	3	9847942	9847942	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs745726771	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	43	117	0	ENST00000397261.3:c.*43A>G			ENST00000397261	NM_005718.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56238.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCATGTCT	NONE	.	.	.	.	.	ENSP00000388169	.	6/6	.	.	.	.	.	.	.	.	rs745726771	6/6	PASS	ENST00000433034	Transcript	.	.	ENSG00000241553	707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARPC4_HUMAN	ARPC4	HGNC	R4GN08_HUMAN	.	UPI000198C8E8	SNV	ARPC4,3_prime_UTR_variant,,ENST00000287613,;ARPC4,3_prime_UTR_variant,,ENST00000397261,;ARPC4,3_prime_UTR_variant,,ENST00000433034,;ARPC4,3_prime_UTR_variant,,ENST00000498623,;ARPC4-TTLL3,intron_variant,,ENST00000397256,;ARPC4-TTLL3,intron_variant,,ENST00000453882,;TTLL3,upstream_gene_variant,,ENST00000438596,;TTLL3,upstream_gene_variant,,ENST00000418745,;TTLL3,upstream_gene_variant,,ENST00000426895,;TTLL3,upstream_gene_variant,,ENST00000422738,;TTLL3,upstream_gene_variant,,ENST00000417065,;TTLL3,upstream_gene_variant,,ENST00000414814,;TTLL3,upstream_gene_variant,,ENST00000452597,;TTLL3,upstream_gene_variant,,ENST00000430718,;TTLL3,upstream_gene_variant,,ENST00000397241,;TTLL3,upstream_gene_variant,,ENST00000419081,;TTLL3,upstream_gene_variant,,ENST00000547186,;TTLL3,upstream_gene_variant,,ENST00000426827,;TTLL3,upstream_gene_variant,,ENST00000439814,;ARPC4,downstream_gene_variant,,ENST00000485273,;ARPC4,3_prime_UTR_variant,,ENST00000417500,;ARPC4,3_prime_UTR_variant,,ENST00000440787,;ARPC4-TTLL3,intron_variant,,ENST00000424442,;ARPC4-TTLL3,intron_variant,,ENST00000418163,;TTLL3,upstream_gene_variant,,ENST00000427220,;ARPC4,downstream_gene_variant,,ENST00000467289,;TTLL3,upstream_gene_variant,,ENST00000431204,;TTLL3,upstream_gene_variant,,ENST00000430390,;TTLL3,upstream_gene_variant,,ENST00000459758,;	612	117	127	SUCCESS
SLC27A6	28965	.	GRCh37	5	128369105	128369105	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	36	0	ENST00000262462.4:c.*130T>C			ENST00000262462				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4145.1	.	MUTECT|MUSE	.	AGAGATAATTT	NONE	.	.	.	.	.	ENSP00000262462	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,3_prime_UTR_variant,,ENST00000395266,;SLC27A6,3_prime_UTR_variant,,ENST00000262462,;SLC27A6,downstream_gene_variant,,ENST00000506176,;	3000	36	21	SUCCESS
PFDN6	10471	.	GRCh37	6	33261661	33261661	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	31	97	0				ENST00000374606	NM_001185181.2	473		0	.	.	.	.	.	C	L	protein_coding	YES	CCDS4774.1	1419	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGGAGCCG	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF159,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000420211	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000497454	Transcript	.	.	ENSG00000237441	9769	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,synonymous_variant,p.%3D,ENST00000444031,;RGL2,synonymous_variant,p.%3D,ENST00000497454,;PFDN6,intron_variant,,ENST00000463584,;RGL2,downstream_gene_variant,,ENST00000425946,;WDR46,upstream_gene_variant,,ENST00000444176,;WDR46,upstream_gene_variant,,ENST00000374617,;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374607,;PFDN6,downstream_gene_variant,,ENST00000374610,;PFDN6,downstream_gene_variant,,ENST00000374606,;RGL2,non_coding_transcript_exon_variant,,ENST00000471319,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;WDR46,upstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000485077,;WDR46,upstream_gene_variant,,ENST00000468157,;RGL2,non_coding_transcript_exon_variant,,ENST00000476616,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;WDR46,upstream_gene_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000478610,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;RGL2,downstream_gene_variant,,ENST00000494550,;PFDN6,downstream_gene_variant,,ENST00000491382,;	1915	97	83	SUCCESS
NPC1L1	29881	.	GRCh37	7	44552966	44552966	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	41	0	ENST00000289547.4:c.*80A>G			ENST00000289547	NM_013389.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5491.1	.	RADIA|VARSCANS	.	GCGTGTGTCAA	NONE	.	.	.	.	.	ENSP00000289547	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,3_prime_UTR_variant,,ENST00000546276,;NPC1L1,3_prime_UTR_variant,,ENST00000381160,;NPC1L1,3_prime_UTR_variant,,ENST00000289547,;AC004938.5,upstream_gene_variant,,ENST00000438468,;	4216	41	34	SUCCESS
POM121L12	285877	.	GRCh37	7	53104593	53104593	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	53	0	ENST00000408890.4:c.*338G>C			ENST00000408890	NM_182595.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43584.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTGATCTT	NONE	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,3_prime_UTR_variant,,ENST00000408890,;	1245	53	34	SUCCESS
INIP	58493	.	GRCh37	9	115449564	115449564	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	13	0	ENST00000374242.4:c.*254A>G			ENST00000374242	NM_021218.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6785.1	.	MUTECT|MUSE	.	TCTGATTGAGA	NONE	.	.	.	.	.	ENSP00000363360	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374242	Transcript	.	.	ENSG00000148153	24994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOSSC_HUMAN	INIP	HGNC	.	.	UPI000006FF52	SNV	INIP,3_prime_UTR_variant,,ENST00000374236,;INIP,3_prime_UTR_variant,,ENST00000374242,;INIP,3_prime_UTR_variant,,ENST00000374238,;INIP,3_prime_UTR_variant,,ENST00000374234,;INIP,non_coding_transcript_exon_variant,,ENST00000497712,;INIP,non_coding_transcript_exon_variant,,ENST00000481146,;	875	13	8	SUCCESS
ZXDB	158586	.	GRCh37	X	57621612	57621612	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10W-01	TCGA-BC-A10W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	101	251	0	ENST00000374888.1:c.*719A>T			ENST00000374888	NM_007157.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35313.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAATTAG	NONE	.	.	.	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	SNV	ZXDB,3_prime_UTR_variant,,ENST00000374888,;	3344	251	138	SUCCESS
FOPNL	0	.	GRCh37	16	15961098	15961098	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs999175456	.	TCGA-BC-A10X-01	TCGA-BC-A10X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	8	0	ENST00000255759.6:c.*199del			ENST00000255759	NM_144600.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10567.1	.	INDELOCATOR|VARSCANI	.	CAATACTTTTTT	NONE	.	.	.	.	.	ENSP00000255759	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000255759	Transcript	.	.	ENSG00000133393	26435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOPNL_HUMAN	FOPNL	HGNC	I3L2N4_HUMAN	.	UPI000006F1B6	deletion	FOPNL,3_prime_UTR_variant,,ENST00000573968,;FOPNL,3_prime_UTR_variant,,ENST00000575744,;FOPNL,3_prime_UTR_variant,,ENST00000573396,;FOPNL,3_prime_UTR_variant,,ENST00000255759,;FOPNL,downstream_gene_variant,,ENST00000575073,;FOPNL,downstream_gene_variant,,ENST00000573429,;FOPNL,3_prime_UTR_variant,,ENST00000573087,;FOPNL,downstream_gene_variant,,ENST00000572415,;	754	8	15	SUCCESS
PRDM7	11105	.	GRCh37	16	90124502	90124502	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	33	114	0	ENST00000449207.2:c.*195T>A			ENST00000449207	NM_001098173.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45557.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCACACTCTC	NONE	.	.	.	.	.	ENSP00000396732	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000449207	Transcript	.	.	ENSG00000126856	9351	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM7_HUMAN	PRDM7	HGNC	.	.	UPI00015294E9	SNV	PRDM7,3_prime_UTR_variant,,ENST00000449207,;PRDM7,3_prime_UTR_variant,,ENST00000325921,;PRDM7,3_prime_UTR_variant,,ENST00000407825,;PRDM7,downstream_gene_variant,,ENST00000568473,;PRDM7,downstream_gene_variant,,ENST00000564210,;	1694	114	93	SUCCESS
CST5	1473	.	GRCh37	20	23856740	23856740	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	37	0	ENST00000304710.4:c.*85C>A			ENST00000304710	NM_001900.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13162.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGGTGG	NONE	.	.	.	.	.	ENSP00000307132	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304710	Transcript	.	.	ENSG00000170367	2477	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYTD_HUMAN	CST5	HGNC	.	.	UPI0000128D6F	SNV	CST5,3_prime_UTR_variant,,ENST00000304710,;	588	37	26	SUCCESS
SOX11	6664	.	GRCh37	2	5837623	5837623	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	21	0	ENST00000322002.3:c.*3444C>G			ENST00000322002	NM_003108.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCCCAGC	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	4825	21	23	SUCCESS
GPR63	81491	.	GRCh37	6	97246206	97246206	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	32	0	ENST00000229955.3:c.*142T>G			ENST00000229955	NM_030784.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5036.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTATAATTAC	NONE	.	.	.	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,3_prime_UTR_variant,,ENST00000417980,;GPR63,3_prime_UTR_variant,,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	1748	32	14	SUCCESS
POU3F2	5454	.	GRCh37	6	99285586	99285586	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs138384155	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	82	205	0	ENST00000328345.5:c.*1505T>C			ENST00000328345	NM_005604.3			0	.	A:0.0038	.	A:0.0086	.	C	.	protein_coding	YES	CCDS5040.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCCTTCCTTT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000329170	A:0.0089	1/1	.	.	.	.	.	.	.	.	rs138384155	1/1	PASS	ENST00000328345	Transcript	.	A:0.0040	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	3007	205	169	SUCCESS
POU3F2	5454	.	GRCh37	6	99285602	99285602	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	75	192	0	ENST00000328345.5:c.*1521T>C			ENST00000328345	NM_005604.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5040.1	.	RADIA|MUTECT|MUSE	.	CTTTGTTAATA	NONE	.	.	.	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	3023	192	144	SUCCESS
PTCD1	26024	.	GRCh37	7	99017484	99017484	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	28	0	ENST00000292478.4:c.*106G>A			ENST00000292478	NM_015545.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56496.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGTTCCTCAGG	NONE	.	.	.	.	.	ENSP00000400168	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000413834	Transcript	.	.	ENSG00000248919	38844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ATP5J2-PTCD1	HGNC	G3V325_HUMAN,C9JWL7_HUMAN,C9JQN9_HUMAN,C9JGL8_HUMAN,C9JBD7_HUMAN,A4D273_HUMAN	.	UPI000198CE57	SNV	ATP5J2-PTCD1,3_prime_UTR_variant,,ENST00000413834,;PTCD1,3_prime_UTR_variant,,ENST00000292478,;PTCD1,3_prime_UTR_variant,,ENST00000555673,;BUD31,downstream_gene_variant,,ENST00000222969,;BUD31,downstream_gene_variant,,ENST00000431419,;BUD31,downstream_gene_variant,,ENST00000403633,;BUD31,downstream_gene_variant,,ENST00000456893,;BUD31,downstream_gene_variant,,ENST00000496696,;BUD31,downstream_gene_variant,,ENST00000466798,;BUD31,downstream_gene_variant,,ENST00000427499,;BUD31,downstream_gene_variant,,ENST00000471813,;	2379	28	13	SUCCESS
UBQLN2	29978	.	GRCh37	X	56592288	56592288	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10Y-01	TCGA-BC-A10Y-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	244	377	0	ENST00000338222.5:c.*107A>G			ENST00000338222	NM_013444.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14374.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTAAATCT	NONE	.	.	.	.	.	ENSP00000345195	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338222	Transcript	.	.	ENSG00000188021	12509	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBQL2_HUMAN	UBQLN2	HGNC	.	.	UPI000004A059	SNV	UBQLN2,3_prime_UTR_variant,,ENST00000338222,;	2263	377	269	SUCCESS
SLC39A12	221074	.	GRCh37	10	18331893	18331893	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1334173026	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	26	0	ENST00000377369.2:c.*131A>T			ENST00000377369	NM_001145195.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44362.1	.	MUTECT|MUSE	.	CATTAACTTAT	NONE	.	.	.	.	.	ENSP00000366586	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000377369	Transcript	.	.	ENSG00000148482	20860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S39AC_HUMAN	SLC39A12	HGNC	F5GX72_HUMAN	.	UPI00004044FC	SNV	SLC39A12,3_prime_UTR_variant,,ENST00000377369,;SLC39A12,3_prime_UTR_variant,,ENST00000377371,;SLC39A12,3_prime_UTR_variant,,ENST00000377374,;SLC39A12,downstream_gene_variant,,ENST00000539911,;	2480	26	10	SUCCESS
SCGB1D4	404552	.	GRCh37	11	62063822	62063822	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs138527687	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	33	47	0	ENST00000358585.1:c.*60C>T			ENST00000358585	NM_206998.1			0	A:0	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS31583.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCGTTGAA	NONE	byCluster|by1000G	.	.	A:0	A:0.0006	ENSP00000351395	A:0.001	3/3	.	.	.	.	.	.	.	.	rs138527687	3/3	PASS	ENST00000358585	Transcript	.	A:0.0002	ENSG00000197745	31748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SG1D4_HUMAN	SCGB1D4	HGNC	.	.	UPI0000049DF4	SNV	SCGB1D4,3_prime_UTR_variant,,ENST00000358585,;	366	47	63	SUCCESS
MKRN3	7681	.	GRCh37	15	23812504	23812504	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	700	567	1446	2	ENST00000314520.3:c.*51T>C			ENST00000314520	NM_005664.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10013.1	.	RADIA|VARSCANS	.	TGCTATTGCCT	NONE	.	.	.	.	.	ENSP00000313881	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000314520	Transcript	1	.	ENSG00000179455	7114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MKRN3_HUMAN	MKRN3	HGNC	.	.	UPI000000DAA1	SNV	MKRN3,3_prime_UTR_variant,,ENST00000314520,;MKRN3,intron_variant,,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;RP11-73C9.1,non_coding_transcript_exon_variant,,ENST00000563044,;MKRN3,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	2051	1449	1268	SUCCESS
SEC14L1	6397	.	GRCh37	17	75212309	75212309	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs113878867	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	14	0	ENST00000430767.4:c.*2204C>A			ENST00000430767	NM_001204410.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42385.1	.	SOMATICSNIPER|VARSCANS	.	GGGTTCGTAGG	NONE	byCluster	.	.	.	.	ENSP00000376268	.	.	.	.	.	.	.	.	.	.	rs113878867	.	PASS	ENST00000392476	Transcript	.	.	ENSG00000129657	10698	.	.	MODIFIER	19/19	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S14L1_HUMAN	SEC14L1	HGNC	K7EQK4_HUMAN,K7ELU0_HUMAN,K7ELM0_HUMAN,K7EJ08_HUMAN,B4E0D1_HUMAN,B4DEZ7_HUMAN	.	UPI00006AB82A	SNV	SEC14L1,3_prime_UTR_variant,,ENST00000436233,;SEC14L1,3_prime_UTR_variant,,ENST00000413679,;SEC14L1,3_prime_UTR_variant,,ENST00000430767,;SEC14L1,intron_variant,,ENST00000392476,;SEC14L1,intron_variant,,ENST00000443798,;SEC14L1,downstream_gene_variant,,ENST00000588488,;SEC14L1,downstream_gene_variant,,ENST00000591437,;SEC14L1,downstream_gene_variant,,ENST00000585618,;SEC14L1,downstream_gene_variant,,ENST00000431431,;SEC14L1,downstream_gene_variant,,ENST00000588721,;SEC14L1,downstream_gene_variant,,ENST00000591413,;SEC14L1,downstream_gene_variant,,ENST00000587491,;	.	14	17	SUCCESS
ZNF431	170959	.	GRCh37	19	21367335	21367335	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	16	0	ENST00000311048.7:c.*498G>T			ENST00000311048	NM_133473.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32979.1	.	RADIA|MUTECT|MUSE	.	TACTGGTGAGA	NONE	.	.	.	.	.	ENSP00000308578	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311048	Transcript	.	.	ENSG00000196705	20809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN431_HUMAN	ZNF431	HGNC	.	.	UPI0000191EAC	SNV	ZNF431,3_prime_UTR_variant,,ENST00000311048,;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,downstream_gene_variant,,ENST00000600692,;ZNF431,non_coding_transcript_exon_variant,,ENST00000593426,;ZNF431,upstream_gene_variant,,ENST00000594821,;VN1R82P,upstream_gene_variant,,ENST00000601481,;	2373	16	11	SUCCESS
PNMAL1	0	.	GRCh37	19	46971527	46971527	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	12	0	ENST00000313683.10:c.*291T>G			ENST00000313683	NM_018215.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33059.1	.	MUTECT|MUSE	.	AATGAATGTTC	NONE	.	.	.	.	.	ENSP00000318131	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,3_prime_UTR_variant,,ENST00000438932,;PNMAL1,3_prime_UTR_variant,,ENST00000313683,;PNMAL1,downstream_gene_variant,,ENST00000602246,;	1917	12	9	SUCCESS
U2AF2	11338	.	GRCh37	19	56166410	56166410	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	15	0				ENST00000308924				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12933.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCGGCTGG	NONE	.	21	.	.	.	ENSP00000307863	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000308924	Transcript	.	.	ENSG00000063244	23156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	U2AF2_HUMAN	U2AF2	HGNC	.	.	UPI0000137924	SNV	U2AF2,5_prime_UTR_variant,,ENST00000450554,;U2AF2,upstream_gene_variant,,ENST00000308924,;CCDC106,downstream_gene_variant,,ENST00000591578,;CCDC106,downstream_gene_variant,,ENST00000588740,;CCDC106,downstream_gene_variant,,ENST00000591241,;CCDC106,downstream_gene_variant,,ENST00000592996,;CCDC106,downstream_gene_variant,,ENST00000586790,;CCDC106,downstream_gene_variant,,ENST00000308964,;U2AF2,upstream_gene_variant,,ENST00000592867,;U2AF2,upstream_gene_variant,,ENST00000587196,;U2AF2,upstream_gene_variant,,ENST00000588850,;	.	15	19	SUCCESS
SPRR3	6707	.	GRCh37	1	152976049	152976049	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs746135532	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	122	163	0	ENST00000295367.4:c.*43C>A			ENST00000295367	NM_001097589.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGCTGGAC	NONE	byFrequency	.	.	.	.	ENSP00000330391	.	3/3	.	.	.	.	.	.	.	.	rs746135532	3/3	PASS	ENST00000331860	Transcript	.	.	ENSG00000163209	11268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPRR3_HUMAN	SPRR3	HGNC	B1AN48_HUMAN	.	UPI0000127F1F	SNV	SPRR3,3_prime_UTR_variant,,ENST00000295367,;SPRR3,3_prime_UTR_variant,,ENST00000331860,;SPRR3,downstream_gene_variant,,ENST00000542696,;SPRR3,downstream_gene_variant,,ENST00000443178,;SPRR3,downstream_gene_variant,,ENST00000495845,;	703	163	198	SUCCESS
RGSL1	353299	.	GRCh37	1	182525282	182525282	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	91	88	0	ENST00000294854.8:c.*90G>T			ENST00000294854	NM_001137669.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58049.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGGTACCA	NONE	.	.	.	.	.	ENSP00000457748	.	21/22	.	.	.	.	.	.	.	.	.	21/22	PASS	ENST00000294854	Transcript	.	.	ENSG00000121446	18636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGSL_HUMAN	RGSL1	HGNC	H3BNQ0_HUMAN	.	UPI000156571A	SNV	RGSL1,3_prime_UTR_variant,,ENST00000294854,;RGSL1,downstream_gene_variant,,ENST00000542961,;RGSL1,3_prime_UTR_variant,,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000415960,;RGSL1,non_coding_transcript_exon_variant,,ENST00000436031,;	3341	88	131	SUCCESS
TTC13	79573	.	GRCh37	1	231042601	231042601	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	90	58	215	0	ENST00000366661.4:c.*50A>T			ENST00000366661	NM_024525.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1588.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAACTTAAGA	NONE	.	.	.	.	.	ENSP00000355621	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000366661	Transcript	.	.	ENSG00000143643	26204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC13_HUMAN	TTC13	HGNC	Q9H659_HUMAN,Q69YR0_HUMAN	.	UPI000013D91C	SNV	TTC13,3_prime_UTR_variant,,ENST00000366661,;TTC13,3_prime_UTR_variant,,ENST00000366662,;TTC13,3_prime_UTR_variant,,ENST00000414259,;TTC13,downstream_gene_variant,,ENST00000471302,;	2641	215	149	SUCCESS
MAP10	54627	.	GRCh37	1	232945598	232945598	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	194	141	424	0	ENST00000418460.1:c.*1685A>T			ENST00000418460	NM_019090.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44334.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGATGTGA	NONE	.	.	.	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,3_prime_UTR_variant,,ENST00000418460,;	4956	424	335	SUCCESS
KCNAB2	8514	.	GRCh37	1	6158762	6158762	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	19	0	ENST00000164247.1:c.*128A>G			ENST00000164247	NM_001199860.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55570.1	.	RADIA|MUTECT|MUSE	.	ATGTCATCGGG	NONE	.	.	.	.	.	ENSP00000367323	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000378083	Transcript	.	.	ENSG00000069424	6229	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCAB2_HUMAN	KCNAB2	HGNC	.	.	UPI000035E741	SNV	KCNAB2,3_prime_UTR_variant,,ENST00000378083,;KCNAB2,3_prime_UTR_variant,,ENST00000164247,;KCNAB2,3_prime_UTR_variant,,ENST00000378097,;KCNAB2,3_prime_UTR_variant,,ENST00000341524,;KCNAB2,3_prime_UTR_variant,,ENST00000352527,;KCNAB2,3_prime_UTR_variant,,ENST00000458166,;KCNAB2,intron_variant,,ENST00000378087,;KCNAB2,intron_variant,,ENST00000378111,;KCNAB2,downstream_gene_variant,,ENST00000389632,;KCNAB2,downstream_gene_variant,,ENST00000602612,;CHD5,downstream_gene_variant,,ENST00000262450,;CHD5,downstream_gene_variant,,ENST00000378021,;KCNAB2,downstream_gene_variant,,ENST00000428161,;KCNAB2,downstream_gene_variant,,ENST00000378092,;KCNAB2,non_coding_transcript_exon_variant,,ENST00000481789,;	1665	19	12	SUCCESS
DNAJC11	55735	.	GRCh37	1	6694587	6694587	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	13	31	0	ENST00000377577.5:c.*1148G>T			ENST00000377577	NM_018198.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS87.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTCAGCCA	NONE	.	.	.	.	.	ENSP00000366800	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000377577	Transcript	.	.	ENSG00000007923	25570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DJC11_HUMAN	DNAJC11	HGNC	F5H1N1_HUMAN,B3KTC6_HUMAN	.	UPI000020544B	SNV	DNAJC11,stop_lost,p.Ter319LeuextTer33,ENST00000349363,;DNAJC11,stop_lost,p.Ter333LeuextTer33,ENST00000451196,;DNAJC11,3_prime_UTR_variant,,ENST00000377577,;THAP3,3_prime_UTR_variant,,ENST00000377627,;DNAJC11,downstream_gene_variant,,ENST00000377573,;THAP3,downstream_gene_variant,,ENST00000307896,;THAP3,downstream_gene_variant,,ENST00000054650,;DNAJC11,downstream_gene_variant,,ENST00000294401,;THAP3,downstream_gene_variant,,ENST00000472925,;DNAJC11,downstream_gene_variant,,ENST00000542246,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000465508,;DNAJC11,downstream_gene_variant,,ENST00000472414,;THAP3,downstream_gene_variant,,ENST00000484669,;THAP3,downstream_gene_variant,,ENST00000480647,;THAP3,downstream_gene_variant,,ENST00000487819,;	2952	31	24	SUCCESS
ITSN1	6453	.	GRCh37	21	35260748	35260748	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	17	0	ENST00000381318.3:c.*144C>G			ENST00000381318	NM_003024.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33545.1	.	MUTECT|MUSE	.	AGCTCCTAGGA	NONE	.	.	.	.	.	ENSP00000370719	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,3_prime_UTR_variant,,ENST00000381285,;ITSN1,3_prime_UTR_variant,,ENST00000381318,;ITSN1,3_prime_UTR_variant,,ENST00000399367,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,downstream_gene_variant,,ENST00000381284,;ITSN1,downstream_gene_variant,,ENST00000415023,;ITSN1,downstream_gene_variant,,ENST00000399326,;ITSN1,downstream_gene_variant,,ENST00000437442,;ITSN1,downstream_gene_variant,,ENST00000420666,;	5598	17	10	SUCCESS
PSD4	23550	.	GRCh37	2	113959028	113959028	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	24	0	ENST00000245796.6:c.*36C>A			ENST00000245796	NM_012455.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33276.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCCAGGGT	NONE	.	.	.	.	.	ENSP00000245796	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000245796	Transcript	.	.	ENSG00000125637	19096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSD4_HUMAN	PSD4	HGNC	B3KN27_HUMAN	.	UPI00004A0748	SNV	PSD4,3_prime_UTR_variant,,ENST00000441564,;PSD4,3_prime_UTR_variant,,ENST00000245796,;PSD4,downstream_gene_variant,,ENST00000409378,;PSD4,3_prime_UTR_variant,,ENST00000409656,;PSD4,non_coding_transcript_exon_variant,,ENST00000464559,;PSD4,non_coding_transcript_exon_variant,,ENST00000460725,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,downstream_gene_variant,,ENST00000487574,;PSD4,downstream_gene_variant,,ENST00000493329,;PSD4,downstream_gene_variant,,ENST00000465592,;	3402	24	27	SUCCESS
SOX11	6664	.	GRCh37	2	5839757	5839757	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	171	167	426	0	ENST00000322002.3:c.*5578C>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTCCTGTG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	6959	426	338	SUCCESS
GYG1	2992	.	GRCh37	3	148744852	148744852	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	27	0	ENST00000345003.4:c.*137del			ENST00000345003	NM_004130.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3139.1	.	VARSCANI*|PINDEL	.	AGAGGCTTTTTT	NONE	.	.	.	.	.	ENSP00000340736	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000345003	Transcript	.	.	ENSG00000163754	4699	5	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GLYG_HUMAN	GYG1	HGNC	C9J8R8_HUMAN,C9J7C7_HUMAN	.	UPI000014176C	deletion	GYG1,3_prime_UTR_variant,,ENST00000484197,;GYG1,3_prime_UTR_variant,,ENST00000296048,;GYG1,3_prime_UTR_variant,,ENST00000345003,;GYG1,downstream_gene_variant,,ENST00000483267,;HLTF,downstream_gene_variant,,ENST00000494055,;HLTF,downstream_gene_variant,,ENST00000465259,;GYG1,downstream_gene_variant,,ENST00000461191,;HLTF,downstream_gene_variant,,ENST00000310053,;HLTF,downstream_gene_variant,,ENST00000392912,;GYG1,non_coding_transcript_exon_variant,,ENST00000479119,;GYG1,downstream_gene_variant,,ENST00000469873,;	1485	27	34	SUCCESS
FOXP1	27086	.	GRCh37	3	71008253	71008253	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	28	0	ENST00000318789.4:c.*145A>G			ENST00000318789	NM_032682.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58837.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGTTAACAC	NONE	.	89	.	.	.	ENSP00000420736	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000491238	Transcript	.	.	ENSG00000114861	3823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FOXP1	HGNC	Q8IXF4_HUMAN,E9PFD3_HUMAN,C9J5T4_HUMAN,C9IYY1_HUMAN,B4DMV4_HUMAN	.	UPI00002099BD	SNV	FOXP1,3_prime_UTR_variant,,ENST00000318789,;FOXP1,3_prime_UTR_variant,,ENST00000475937,;FOXP1,downstream_gene_variant,,ENST00000491238,;FOXP1,downstream_gene_variant,,ENST00000498215,;FOXP1,downstream_gene_variant,,ENST00000497355,;FOXP1,downstream_gene_variant,,ENST00000468577,;FOXP1,downstream_gene_variant,,ENST00000484350,;FOXP1,downstream_gene_variant,,ENST00000493089,;FOXP1,downstream_gene_variant,,ENST00000460805,;FOXP1,downstream_gene_variant,,ENST00000327590,;	.	28	29	SUCCESS
NKAPL	222698	.	GRCh37	6	28228564	28228564	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	84	0	ENST00000343684.3:c.*206A>C			ENST00000343684	NM_001007531.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34353.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACCATTATA	NONE	.	.	.	.	.	ENSP00000345716	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343684	Transcript	.	.	ENSG00000189134	21584	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKAPL_HUMAN	NKAPL	HGNC	.	.	UPI0000072A86	SNV	NKAPL,3_prime_UTR_variant,,ENST00000343684,;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;	1467	84	86	SUCCESS
SLC44A4	80736	.	GRCh37	6	31846814	31846814	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	19	0				ENST00000229729	NM_025257.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4724.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGCCCGCCCCG	NONE	.	36	.	.	.	ENSP00000229729	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000229729	Transcript	.	.	ENSG00000204385	13941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CTL4_HUMAN	SLC44A4	HGNC	.	.	UPI00004702CE	SNV	SLC44A4,5_prime_UTR_variant,,ENST00000375562,;EHMT2,downstream_gene_variant,,ENST00000436026,;EHMT2,downstream_gene_variant,,ENST00000375528,;SLC44A4,upstream_gene_variant,,ENST00000229729,;EHMT2,downstream_gene_variant,,ENST00000395728,;EHMT2,downstream_gene_variant,,ENST00000375530,;EHMT2,downstream_gene_variant,,ENST00000375537,;SLC44A4,upstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000544672,;EHMT2-AS1,upstream_gene_variant,,ENST00000434689,;EHMT2,downstream_gene_variant,,ENST00000480912,;SLC44A4,upstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000462671,;EHMT2,downstream_gene_variant,,ENST00000478491,;EHMT2,downstream_gene_variant,,ENST00000461880,;EHMT2,downstream_gene_variant,,ENST00000494816,;	.	20	37	SUCCESS
ICK	0	.	GRCh37	6	52869894	52869894	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	19	0	ENST00000356971.3:c.*53T>G			ENST00000356971	NM_016513.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4949.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGAGGGAA	NONE	.	.	.	.	.	ENSP00000349458	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000356971	Transcript	.	.	ENSG00000112144	21219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ICK_HUMAN	ICK	HGNC	.	.	UPI0000073DE8	SNV	ICK,3_prime_UTR_variant,,ENST00000350082,;ICK,3_prime_UTR_variant,,ENST00000356971,;	2442	19	20	SUCCESS
ICK	0	.	GRCh37	6	52869907	52869907	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	21	0	ENST00000356971.3:c.*40A>C			ENST00000356971	NM_016513.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4949.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCTGCTTC	NONE	.	.	.	.	.	ENSP00000349458	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000356971	Transcript	.	.	ENSG00000112144	21219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ICK_HUMAN	ICK	HGNC	.	.	UPI0000073DE8	SNV	ICK,3_prime_UTR_variant,,ENST00000350082,;ICK,3_prime_UTR_variant,,ENST00000356971,;	2429	21	21	SUCCESS
NOS3	4846	.	GRCh37	7	150713833	150713833	+	downstream_gene_variant	3'Flank	DEL	G	G	-	novel	.	TCGA-BC-A10Z-01	TCGA-BC-A10Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	66	0				ENST00000297494	NM_000603.4	788		0	.	.	.	.	.	-	P/X	protein_coding	YES	.	2363	INDELOCATOR|VARSCANI	.	GCAGCTGGACAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038	.	.	ENSP00000475005	.	11/18	.	.	.	.	.	.	.	.	.	11/18	PASS	ENST00000377974	Transcript	.	.	ENSG00000181652	21899	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ATG9B	HGNC	S4R430_HUMAN	.	UPI00015E055A	deletion	ATG9B,frameshift_variant,p.Pro274GlnfsTer43,ENST00000444312,;ATG9B,frameshift_variant,p.Pro788GlnfsTer43,ENST00000377974,;ATG9B,3_prime_UTR_variant,,ENST00000605938,;NOS3,downstream_gene_variant,,ENST00000461406,;NOS3,downstream_gene_variant,,ENST00000297494,;NOS3,downstream_gene_variant,,ENST00000475017,;ATG9B,downstream_gene_variant,,ENST00000605952,;ATG9B,non_coding_transcript_exon_variant,,ENST00000464855,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473698,;ATG9B,non_coding_transcript_exon_variant,,ENST00000486407,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,upstream_gene_variant,,ENST00000498521,;NOS3,downstream_gene_variant,,ENST00000477227,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,downstream_gene_variant,,ENST00000473409,;NOS3,downstream_gene_variant,,ENST00000468293,;ATG9B,upstream_gene_variant,,ENST00000471797,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000473134,;NOS3,downstream_gene_variant,,ENST00000475454,;ATG9B,upstream_gene_variant,,ENST00000469530,;	2439	66	74	SUCCESS
INTS5	80789	.	GRCh37	11	62414385	62414385	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	15	0	ENST00000330574.2:c.*107G>A			ENST00000330574	NM_030628.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8027.1	.	MUTECT|MUSE	.	CAGCGCTCTTT	NONE	.	.	.	.	.	ENSP00000327889	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330574	Transcript	.	.	ENSG00000185085	29352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INT5_HUMAN	INTS5	HGNC	.	.	UPI0000161948	SNV	INTS5,3_prime_UTR_variant,,ENST00000330574,;GANAB,upstream_gene_variant,,ENST00000525994,;GANAB,upstream_gene_variant,,ENST00000356638,;GANAB,upstream_gene_variant,,ENST00000534779,;RP11-831H9.11,downstream_gene_variant,,ENST00000528405,;GANAB,upstream_gene_variant,,ENST00000540933,;GANAB,upstream_gene_variant,,ENST00000346178,;GANAB,upstream_gene_variant,,ENST00000534419,;GANAB,upstream_gene_variant,,ENST00000529737,;GANAB,upstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000526210,;GANAB,upstream_gene_variant,,ENST00000526392,;	3220	15	14	SUCCESS
CTD-3105H18.14	0	.	GRCh37	19	12491171	12491171	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	60	0	ENST00000435033.1:c.*1080G>T			ENST00000435033				0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCCAATGA	NONE	.	.	.	.	.	ENSP00000394047	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000435033	Transcript	.	.	ENSG00000268744	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-3105H18.14	Clone_based_vega_gene	F2Z351_HUMAN	.	UPI00001CE054	SNV	CTD-3105H18.14,3_prime_UTR_variant,,ENST00000435033,;CTD-3105H18.4,non_coding_transcript_exon_variant,,ENST00000507003,;	1425	60	40	SUCCESS
B3GALT6	126792	.	GRCh37	1	1169395	1169395	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	55	0	ENST00000379198.2:c.*747G>A			ENST00000379198	NM_080605.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACGCGGTT	NONE	.	.	.	.	.	ENSP00000368496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379198	Transcript	.	.	ENSG00000176022	17978	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GT6_HUMAN	B3GALT6	HGNC	.	.	UPI0000141885	SNV	B3GALT6,3_prime_UTR_variant,,ENST00000379198,;SDF4,upstream_gene_variant,,ENST00000360001,;SDF4,upstream_gene_variant,,ENST00000545427,;SDF4,upstream_gene_variant,,ENST00000263741,;SDF4,upstream_gene_variant,,ENST00000459994,;SDF4,upstream_gene_variant,,ENST00000465727,;	1767	55	55	SUCCESS
KAT2B	8850	.	GRCh37	3	20194018	20194018	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs750062124	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	24	0	ENST00000263754.4:c.*8del			ENST00000263754	NM_003884.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2634.1	.	INDELOCATOR|VARSCANI	.	AAGTGATTTTTT	NONE	byFrequency	.	.	.	.	ENSP00000263754	.	18/18	.	.	.	.	.	.	.	.	rs761161509,rs774359585	18/18	PASS	ENST00000263754	Transcript	.	.	ENSG00000114166	8638	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAT2B_HUMAN	KAT2B	HGNC	.	.	UPI00002132DE	deletion	KAT2B,3_prime_UTR_variant,,ENST00000263754,;KAT2B,downstream_gene_variant,,ENST00000468400,;	2955	24	30	SUCCESS
CMC1	152100	.	GRCh37	3	28361126	28361126	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs749850252	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	64	213	0	ENST00000466830.1:c.*6T>C			ENST00000466830	NM_182523.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33722.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATACTCA	NONE	.	.	.	.	.	ENSP00000418348	.	4/4	.	.	.	.	.	.	.	.	rs749850252	4/4	PASS	ENST00000466830	Transcript	.	.	ENSG00000187118	28783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COXM1_HUMAN	CMC1	HGNC	.	.	UPI0000161ABD	SNV	CMC1,3_prime_UTR_variant,,ENST00000423894,;CMC1,3_prime_UTR_variant,,ENST00000466830,;CMC1,3_prime_UTR_variant,,ENST00000418849,;AZI2,intron_variant,,ENST00000429369,;AZI2,downstream_gene_variant,,ENST00000479665,;CMC1,non_coding_transcript_exon_variant,,ENST00000495428,;CMC1,non_coding_transcript_exon_variant,,ENST00000469102,;CMC1,non_coding_transcript_exon_variant,,ENST00000467644,;CMC1,non_coding_transcript_exon_variant,,ENST00000482499,;AZI2,downstream_gene_variant,,ENST00000295748,;CMC1,downstream_gene_variant,,ENST00000468330,;CMC1,3_prime_UTR_variant,,ENST00000334841,;CMC1,non_coding_transcript_exon_variant,,ENST00000396610,;CMC1,non_coding_transcript_exon_variant,,ENST00000477739,;AZI2,downstream_gene_variant,,ENST00000476174,;AZI2,downstream_gene_variant,,ENST00000492044,;	526	213	183	SUCCESS
TPD52L1	7164	.	GRCh37	6	125584204	125584204	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	15	0	ENST00000534000.1:c.*96A>G			ENST00000534000	NM_003287.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5130.1	.	MUTECT|MUSE	.	CTGGGAAAAAC	NONE	.	.	.	.	.	ENSP00000434142	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000534000	Transcript	.	.	ENSG00000111907	12006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPD53_HUMAN	TPD52L1	HGNC	F6V707_HUMAN,E9PNQ9_HUMAN	.	UPI0000136B40	SNV	TPD52L1,3_prime_UTR_variant,,ENST00000392482,;TPD52L1,3_prime_UTR_variant,,ENST00000528193,;TPD52L1,3_prime_UTR_variant,,ENST00000527711,;TPD52L1,3_prime_UTR_variant,,ENST00000534199,;TPD52L1,3_prime_UTR_variant,,ENST00000368402,;TPD52L1,3_prime_UTR_variant,,ENST00000534000,;TPD52L1,3_prime_UTR_variant,,ENST00000524679,;TPD52L1,3_prime_UTR_variant,,ENST00000368388,;TPD52L1,3_prime_UTR_variant,,ENST00000304877,;TPD52L1,downstream_gene_variant,,ENST00000532429,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000530868,;HDDC2,intron_variant,,ENST00000608456,;TPD52L1,downstream_gene_variant,,ENST00000576089,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000571678,;HDDC2,intron_variant,,ENST00000609477,;TPD52L1,downstream_gene_variant,,ENST00000532423,;	1007	15	11	SUCCESS
SEMA3A	10371	.	GRCh37	7	83590638	83590638	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1160470740	.	TCGA-BC-A216-01	TCGA-BC-A216-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	103	0	ENST00000265362.4:c.*49A>G			ENST00000265362	NM_006080.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5599.1	.	MUTECT|MUSE	.	AGTTATTGTCT	NONE	.	.	.	.	.	ENSP00000265362	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,3_prime_UTR_variant,,ENST00000265362,;SEMA3A,3_prime_UTR_variant,,ENST00000436949,;	2680	103	81	SUCCESS
ST3GAL1	6482	.	GRCh37	8	134472006	134472006	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	rs761386475	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	13	38	0	ENST00000399640.2:c.*1del			ENST00000399640				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6373.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTGCGTCATC	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000318445	.	9/9	.	.	.	.	.	.	.	.	rs761386475	9/9	PASS	ENST00000319914	Transcript	.	.	ENSG00000008513	10862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIA4A_HUMAN	ST3GAL1	HGNC	E5RHV6_HUMAN,E5RH34_HUMAN,E5RGL4_HUMAN,E5RGI3_HUMAN,E5RG72_HUMAN	.	UPI00000015E1	deletion	ST3GAL1,3_prime_UTR_variant,,ENST00000521180,;ST3GAL1,3_prime_UTR_variant,,ENST00000319914,;ST3GAL1,3_prime_UTR_variant,,ENST00000522652,;ST3GAL1,3_prime_UTR_variant,,ENST00000399640,;	2052	38	39	SUCCESS
GRIN1	2902	.	GRCh37	9	140062302	140062302	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A216-01	TCGA-BC-A216-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	26	0	ENST00000371561.3:c.*323G>T			ENST00000371561	NM_007327.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55354.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCGGAGGC	NONE	.	.	.	.	.	ENSP00000360608	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,3_prime_UTR_variant,,ENST00000371555,;GRIN1,3_prime_UTR_variant,,ENST00000371561,;GRIN1,3_prime_UTR_variant,,ENST00000371546,;GRIN1,3_prime_UTR_variant,,ENST00000315048,;GRIN1,3_prime_UTR_variant,,ENST00000371550,;GRIN1,3_prime_UTR_variant,,ENST00000371559,;GRIN1,3_prime_UTR_variant,,ENST00000371553,;GRIN1,3_prime_UTR_variant,,ENST00000371560,;LRRC26,downstream_gene_variant,,ENST00000371542,;TMEM210,downstream_gene_variant,,ENST00000413619,;TMEM210,downstream_gene_variant,,ENST00000535352,;GRIN1,downstream_gene_variant,,ENST00000350902,;MIR3621,downstream_gene_variant,,ENST00000580529,;GRIN1,downstream_gene_variant,,ENST00000473811,;GRIN1,upstream_gene_variant,,ENST00000462584,;GRIN1,downstream_gene_variant,,ENST00000460273,;RP11-350O14.18,downstream_gene_variant,,ENST00000568665,;GRIN1,downstream_gene_variant,,ENST00000471122,;TMEM210,downstream_gene_variant,,ENST00000430332,;TMEM210,downstream_gene_variant,,ENST00000427366,;	2846	26	31	SUCCESS
TRIM13	10206	.	GRCh37	13	50592279	50592279	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	62	238	0	ENST00000378182.3:c.*4979T>C			ENST00000378182	NM_213590.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41888.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTTAAACT	NONE	.	4963	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,3_prime_UTR_variant,,ENST00000378182,;KCNRG,intron_variant,,ENST00000360473,;KCNRG,intron_variant,,ENST00000312942,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000298772,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	238	85	SUCCESS
GPR65	8477	.	GRCh37	14	88478400	88478400	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	31	134	0	ENST00000267549.3:c.*195T>C			ENST00000267549	NM_003608.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTAAACA	NONE	.	.	.	.	.	ENSP00000267549	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000267549	Transcript	.	.	ENSG00000140030	4517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSYR_HUMAN	GPR65	HGNC	B5B0C2_HUMAN	.	UPI000007422C	SNV	GPR65,3_prime_UTR_variant,,ENST00000267549,;RP11-300J18.2,intron_variant,,ENST00000554433,;	1767	134	97	SUCCESS
OR4Q1P	81104	.	GRCh37	15	22332496	22332496	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	372	120	562	0				ENST00000557009				0	.	.	.	.	.	A	.	sense_overlapping	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTACTATTT	NONE	.	.	.	.	.	.	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000558896	Transcript	.	.	ENSG00000259176	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-69H14.6	Clone_based_vega_gene	.	.	.	SNV	RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000560134,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000557855,;RP11-69H14.6,intron_variant,,ENST00000560193,;RP11-69H14.6,intron_variant,,ENST00000557817,;OR4Q1P,upstream_gene_variant,,ENST00000557009,;	303	563	492	SUCCESS
HEATR6	63897	.	GRCh37	17	58120697	58120697	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	9	0	ENST00000184956.6:c.*227G>T			ENST00000184956	NM_022070.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11623.1	.	MUTECT|MUSE|VARSCANS	.	CGGCTCCTGGA	NONE	.	.	.	.	.	ENSP00000184956	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000184956	Transcript	.	.	ENSG00000068097	24076	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEAT6_HUMAN	HEATR6	HGNC	K7ELR8_HUMAN	.	UPI0000366C37	SNV	HEATR6,3_prime_UTR_variant,,ENST00000184956,;HEATR6,downstream_gene_variant,,ENST00000585976,;AC005702.1,upstream_gene_variant,,ENST00000581326,;AC005702.4,upstream_gene_variant,,ENST00000583144,;AC005702.3,upstream_gene_variant,,ENST00000582298,;MIR4737,upstream_gene_variant,,ENST00000583979,;AC005702.2,upstream_gene_variant,,ENST00000577558,;HEATR6,downstream_gene_variant,,ENST00000587314,;HEATR6,downstream_gene_variant,,ENST00000591683,;HEATR6,downstream_gene_variant,,ENST00000587003,;	3790	9	20	SUCCESS
RGS9BP	388531	.	GRCh37	19	33167899	33167899	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	24	0	ENST00000334176.3:c.*22C>T			ENST00000334176	NM_207391.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12424.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGCTGCTG	NONE	.	.	.	.	.	ENSP00000334134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334176	Transcript	1	.	ENSG00000186326	30304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R9BP_HUMAN	RGS9BP	HGNC	.	.	UPI0000198BA8	SNV	RGS9BP,3_prime_UTR_variant,,ENST00000334176,;ANKRD27,upstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000306065,;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;ANKRD27,upstream_gene_variant,,ENST00000590519,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	1587	24	19	SUCCESS
KCNC4	3749	.	GRCh37	1	110775555	110775555	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs374236746	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	22	55	0	ENST00000369787.3:c.*624G>A			ENST00000369787	NM_004978.4			0	A:0	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS821.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCTCGTCCAA	NONE	byCluster|by1000G	.	.	A:0	A:0.0001	ENSP00000358802	A:0	4/4	.	.	.	.	.	.	.	.	rs374236746,COSM893651	4/4	PASS	ENST00000369787	Transcript	.	A:0.0002	ENSG00000116396	6236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	0,1	.	.	.	A:0.001	.	0,1	KCNC4_HUMAN	KCNC4	HGNC	.	.	UPI000013CAC8	SNV	KCNC4,synonymous_variant,p.%3D,ENST00000438661,;KCNC4,3_prime_UTR_variant,,ENST00000413138,;KCNC4,3_prime_UTR_variant,,ENST00000369787,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,3_prime_UTR_variant,,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;	2559	55	33	SUCCESS
RGS4	5999	.	GRCh37	1	163044511	163044511	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	14	0	ENST00000367909.6:c.*161A>G			ENST00000367909	NM_005613.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44270.1	.	MUTECT|MUSE	.	TAGATATAGCT	NONE	.	.	.	.	.	ENSP00000397181	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,3_prime_UTR_variant,,ENST00000367908,;RGS4,3_prime_UTR_variant,,ENST00000367909,;RGS4,3_prime_UTR_variant,,ENST00000367906,;RGS4,3_prime_UTR_variant,,ENST00000421743,;RGS4,3_prime_UTR_variant,,ENST00000527809,;RGS4,downstream_gene_variant,,ENST00000528938,;RGS4,downstream_gene_variant,,ENST00000531057,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,downstream_gene_variant,,ENST00000533019,;RGS4,downstream_gene_variant,,ENST00000527393,;	1230	14	12	SUCCESS
FMN2	56776	.	GRCh37	1	240637481	240637481	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	206	161	403	0	ENST00000319653.9:c.*27T>A			ENST00000319653	NM_020066.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31069.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGTCATTG	NONE	.	.	.	.	.	ENSP00000318884	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000319653	Transcript	.	.	ENSG00000155816	14074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FMN2_HUMAN	FMN2	HGNC	Q96L17_HUMAN,B4DN09_HUMAN	.	UPI00015FA087	SNV	FMN2,3_prime_UTR_variant,,ENST00000545751,;FMN2,3_prime_UTR_variant,,ENST00000543681,;FMN2,3_prime_UTR_variant,,ENST00000319653,;AL646016.1,intron_variant,,ENST00000596886,;FMN2,non_coding_transcript_exon_variant,,ENST00000496950,;	5426	403	367	SUCCESS
GJB4	127534	.	GRCh37	1	35227774	35227774	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	102	0	ENST00000339480.1:c.*118G>T			ENST00000339480	NM_153212.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS383.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGGCTCAG	NONE	.	.	.	.	.	ENSP00000345868	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339480	Transcript	.	.	ENSG00000189433	4286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB4_HUMAN	GJB4	HGNC	.	.	UPI0000051E4B	SNV	GJB4,3_prime_UTR_variant,,ENST00000339480,;GJB5,downstream_gene_variant,,ENST00000338513,;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	1289	102	97	SUCCESS
AJAP1	55966	.	GRCh37	1	4834562	4834562	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	18	103	0	ENST00000378190.3:c.*3G>A			ENST00000378190	NM_001042478.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGACTGGCCGA	NONE	.	.	.	.	.	ENSP00000367433	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,3_prime_UTR_variant,,ENST00000378191,;AJAP1,3_prime_UTR_variant,,ENST00000378190,;	1620	103	65	SUCCESS
METTL21A	151194	.	GRCh37	2	208477757	208477757	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	56	125	0	ENST00000406927.2:c.*13T>C			ENST00000406927				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2376.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTATAAATTA	NONE	.	.	.	.	.	ENSP00000415115	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000411432	Transcript	.	.	ENSG00000144401	30476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT21A_HUMAN	METTL21A	HGNC	.	.	UPI000013D97D	SNV	METTL21A,3_prime_UTR_variant,,ENST00000411432,;METTL21A,3_prime_UTR_variant,,ENST00000442521,;METTL21A,3_prime_UTR_variant,,ENST00000448823,;METTL21A,3_prime_UTR_variant,,ENST00000448007,;METTL21A,3_prime_UTR_variant,,ENST00000406927,;METTL21A,3_prime_UTR_variant,,ENST00000426075,;METTL21A,3_prime_UTR_variant,,ENST00000272839,;METTL21A,intron_variant,,ENST00000425132,;METTL21A,intron_variant,,ENST00000432416,;METTL21A,intron_variant,,ENST00000458426,;METTL21A,downstream_gene_variant,,ENST00000461419,;METTL21A,upstream_gene_variant,,ENST00000477919,;	887	125	119	SUCCESS
NDUFS6	4726	.	GRCh37	5	1816135	1816135	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	34	133	1	ENST00000274137.5:c.*105G>T			ENST00000274137	NM_004553.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3866.1	.	MUTECT|MUSE	.	GTGCTGAATAA	NONE	.	.	.	.	.	ENSP00000274137	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000274137	Transcript	1	.	ENSG00000145494	7713	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUS6_HUMAN	NDUFS6	HGNC	Q6IBC4_HUMAN	.	UPI000000DB49	SNV	NDUFS6,3_prime_UTR_variant,,ENST00000274137,;NDUFS6,downstream_gene_variant,,ENST00000469176,;	498	134	152	SUCCESS
PRRC2A	7916	.	GRCh37	6	31608198	31608198	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	29	34	0				ENST00000376007	NM_080686.2	1004		0	.	.	.	.	.	A	S	protein_coding	YES	CCDS47403.1	3012	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTGAAGC	NONE	.	.	hmmpanther:PTHR15204	.	.	ENSP00000365131	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000375964	Transcript	.	.	ENSG00000204463	13919	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAG6_HUMAN	BAG6	HGNC	F6TC96_HUMAN,F6RG75_HUMAN	.	UPI000047029D	SNV	BAG6,synonymous_variant,p.%3D,ENST00000375976,;BAG6,synonymous_variant,p.%3D,ENST00000362049,;BAG6,synonymous_variant,p.%3D,ENST00000375964,;BAG6,synonymous_variant,p.%3D,ENST00000211379,;BAG6,synonymous_variant,p.%3D,ENST00000441793,;BAG6,synonymous_variant,p.%3D,ENST00000404765,;BAG6,intron_variant,,ENST00000422948,;BAG6,intron_variant,,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000435080,;BAG6,downstream_gene_variant,,ENST00000437771,;PRRC2A,downstream_gene_variant,,ENST00000376033,;BAG6,downstream_gene_variant,,ENST00000453833,;PRRC2A,downstream_gene_variant,,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,non_coding_transcript_exon_variant,,ENST00000464126,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,downstream_gene_variant,,ENST00000470875,;BAG6,downstream_gene_variant,,ENST00000465348,;BAG6,downstream_gene_variant,,ENST00000462682,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;PRRC2A,downstream_gene_variant,,ENST00000487089,;PRRC2A,downstream_gene_variant,,ENST00000469501,;PRRC2A,downstream_gene_variant,,ENST00000492691,;BAG6,downstream_gene_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000487839,;	3326	34	49	SUCCESS
EPHA7	2045	.	GRCh37	6	93953063	93953063	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	12	55	0	ENST00000369303.4:c.*81A>T			ENST00000369303	NM_004440.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5031.1	.	MUTECT|MUSE	.	TCTTCTAGCAG	NONE	.	.	.	.	.	ENSP00000358309	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000369303	Transcript	.	.	ENSG00000135333	3390	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA7_HUMAN	EPHA7	HGNC	.	.	UPI0000044771	SNV	EPHA7,3_prime_UTR_variant,,ENST00000369303,;	3263	55	56	SUCCESS
FUT9	10690	.	GRCh37	6	96659889	96659889	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	17	96	0	ENST00000302103.5:c.*7778C>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTCTACAG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	9184	96	86	SUCCESS
OTUD6B	51633	.	GRCh37	8	92082456	92082456	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	97	0				ENST00000404789	NM_001286745.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6253.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCGTCTTTG	NONE	.	.	.	.	.	ENSP00000285420	.	1/7	.	.	.	.	.	.	.	.	.	1/7	PASS	ENST00000285420	Transcript	.	.	ENSG00000155100	24281	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTU6B_HUMAN	OTUD6B	HGNC	.	.	UPI0000E5AF0F	SNV	OTUD6B,5_prime_UTR_variant,,ENST00000285420,;OTUD6B,upstream_gene_variant,,ENST00000404789,;GS1-251I9.4,upstream_gene_variant,,ENST00000522817,;GS1-251I9.4,upstream_gene_variant,,ENST00000524003,;OTUD6B,upstream_gene_variant,,ENST00000524027,;OTUD6B,upstream_gene_variant,,ENST00000522894,;	33	97	51	SUCCESS
TCEAL8	90843	.	GRCh37	X	102507925	102507925	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	45	0	ENST00000360000.4:c.*629A>G			ENST00000360000	NM_001006684.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14504.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTATCTGTA	NONE	.	.	.	.	.	ENSP00000361770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372685	Transcript	.	.	ENSG00000180964	28683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCAL8_HUMAN	TCEAL8	HGNC	.	.	UPI00000437D3	SNV	TCEAL8,3_prime_UTR_variant,,ENST00000372685,;TCEAL8,3_prime_UTR_variant,,ENST00000360000,;TCEAL8,downstream_gene_variant,,ENST00000451678,;	1220	45	37	SUCCESS
MAGEA8	4107	.	GRCh37	X	149014431	149014432	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs782573736	.	TCGA-BC-A217-01	TCGA-BC-A217-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	156	95	271	0	ENST00000286482.1:c.*435dup			ENST00000286482	NM_005364.4			0	.	T:0.003	.	T:0	.	T	.	protein_coding	YES	CCDS14692.1	.	INDELOCATOR|VARSCANI	.	TTAAGGTTTTT	NONE	byFrequency|by1000G	.	.	T:0.001	.	ENSP00000438293	T:0	4/4	.	.	.	.	.	.	.	.	rs782573736	4/4	PASS	ENST00000535454	Transcript	.	T:0.0013	ENSG00000156009	6806	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	MAGA8_HUMAN	MAGEA8	HGNC	.	.	UPI0000071C79	insertion	MAGEA8,3_prime_UTR_variant,,ENST00000542674,;MAGEA8,3_prime_UTR_variant,,ENST00000535454,;MAGEA8,3_prime_UTR_variant,,ENST00000286482,;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,;MAGEA8,downstream_gene_variant,,ENST00000493910,;MAGEA8,downstream_gene_variant,,ENST00000345830,;	1934-1935	271	251	SUCCESS
MAGEB10	139422	.	GRCh37	X	27840583	27840583	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	128	37	131	0	ENST00000356790.2:c.*116T>C			ENST00000356790	NM_182506.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35221.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTATGTGAT	NONE	.	.	.	.	.	ENSP00000368304	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356790	Transcript	.	.	ENSG00000177689	25377	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGBA_HUMAN	MAGEB10	HGNC	.	.	UPI000013F050	SNV	MAGEB10,3_prime_UTR_variant,,ENST00000356790,;	1405	131	165	SUCCESS
DGAT2L6	347516	.	GRCh37	X	69425146	69425146	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A217-01	TCGA-BC-A217-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000333026.3:c.*190G>T			ENST00000333026	NM_198512.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14397.1	.	SOMATICSNIPER|RADIA|MUTECT	.	GCTTAGGGGAA	NONE	.	.	.	.	.	ENSP00000328036	.	7/7	.	.	.	.	.	.	.	.	.	7/7	oxog	ENST00000333026	Transcript	.	.	ENSG00000184210	23250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DG2L6_HUMAN	DGAT2L6	HGNC	.	.	UPI00001C10BF	SNV	DGAT2L6,3_prime_UTR_variant,,ENST00000333026,;	1304	11	13	SUCCESS
SYT15	83849	.	GRCh37	10	46961965	46961965	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	35	163	0	ENST00000374321.4:c.*5T>C			ENST00000374321	NM_031912.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44376.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGCGAAGGGT	NONE	.	.	.	.	.	ENSP00000363441	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000374321	Transcript	.	.	ENSG00000204176	17167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYT15_HUMAN	SYT15	HGNC	.	.	UPI00001AA161	SNV	SYT15,3_prime_UTR_variant,,ENST00000374323,;SYT15,3_prime_UTR_variant,,ENST00000374321,;SYT15,intron_variant,,ENST00000374328,;SYT15,intron_variant,,ENST00000503753,;SYT15,intron_variant,,ENST00000374325,;SYT15,downstream_gene_variant,,ENST00000512997,;RP11-38L15.3,intron_variant,,ENST00000506914,;SYT15,upstream_gene_variant,,ENST00000449358,;	1338	163	199	SUCCESS
RNU6-721P	106481774	.	GRCh37	18	15316521	15316521	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs1354793161	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	14	56	0				ENST00000410155				0	.	.	.	.	.	T	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAACGGAGA	NONE	.	4318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410155	Transcript	.	.	ENSG00000222087	47684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-721P	HGNC	.	.	.	SNV	RNU6-721P,downstream_gene_variant,,ENST00000410155,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000504516,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000455308,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000333851,;AP005901.1,intron_variant,,ENST00000508721,;	.	56	42	SUCCESS
CTD-2231E14.4	0	.	GRCh37	19	16178424	16178424	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	30	0				ENST00000585520				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCAGCGCC	NONE	.	.	.	.	.	ENSP00000439135	.	1/10	.	.	.	.	.	.	.	.	.	1/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,5_prime_UTR_variant,,ENST00000538887,;TPM4,5_prime_UTR_variant,,ENST00000344824,;TPM4,5_prime_UTR_variant,,ENST00000589897,;TPM4,upstream_gene_variant,,ENST00000586499,;CTD-2231E14.4,downstream_gene_variant,,ENST00000585520,;	77	30	18	SUCCESS
TPRX1	284355	.	GRCh37	19	48305011	48305011	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	35	0	ENST00000322175.3:c.*21T>A			ENST00000322175	NM_198479.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33066.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAGAACTTT	NONE	.	.	.	.	.	ENSP00000323455	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322175	Transcript	.	.	ENSG00000178928	32174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPRX1_HUMAN	TPRX1	HGNC	.	.	UPI0000198666	SNV	TPRX1,3_prime_UTR_variant,,ENST00000543508,;TPRX1,3_prime_UTR_variant,,ENST00000322175,;TPRX1,3_prime_UTR_variant,,ENST00000535759,;	1413	35	46	SUCCESS
FCGR1B	2210	.	GRCh37	1	120926987	120926987	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	14	68	0	ENST00000369384.4:c.*150C>A			ENST00000369384	NM_001017986.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30821.1	.	RADIA|MUTECT|MUSE	.	CAGTTGAAGTC	NONE	.	.	.	.	.	ENSP00000358391	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000369384	Transcript	.	.	ENSG00000198019	3614	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FCGRB_HUMAN	FCGR1B	HGNC	.	.	UPI0000071A38	SNV	FCGR1B,3_prime_UTR_variant,,ENST00000369384,;FCGR1B,downstream_gene_variant,,ENST00000369383,;RP11-439A17.10,intron_variant,,ENST00000426275,;RP11-439A17.9,intron_variant,,ENST00000457996,;FCGR1B,downstream_gene_variant,,ENST00000369178,;FCGR1B,downstream_gene_variant,,ENST00000472543,;FCGR1B,downstream_gene_variant,,ENST00000466915,;FCGR1B,downstream_gene_variant,,ENST00000471609,;	1036	68	71	SUCCESS
NPHS2	7827	.	GRCh37	1	179520268	179520268	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs764037878	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	19	36	0	ENST00000367615.4:c.*40T>A			ENST00000367615	NM_014625.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1331.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTATGGCA	NONE	byFrequency	.	.	.	.	ENSP00000356587	.	8/8	.	.	.	.	.	.	.	.	rs764037878	8/8	PASS	ENST00000367615	Transcript	.	.	ENSG00000116218	13394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PODO_HUMAN	NPHS2	HGNC	.	.	UPI000003F549	SNV	NPHS2,3_prime_UTR_variant,,ENST00000367616,;NPHS2,3_prime_UTR_variant,,ENST00000367615,;AXDND1,intron_variant,,ENST00000434088,;AXDND1,intron_variant,,ENST00000367618,;RP11-545A16.1,upstream_gene_variant,,ENST00000569644,;AXDND1,non_coding_transcript_exon_variant,,ENST00000489080,;AXDND1,intron_variant,,ENST00000484455,;AXDND1,intron_variant,,ENST00000484883,;AXDND1,intron_variant,,ENST00000511157,;	1261	36	42	SUCCESS
DUSP10	11221	.	GRCh37	1	221875667	221875667	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	15	0	ENST00000366899.3:c.*87T>C			ENST00000366899	NM_007207.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1528.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AAAAAAAAAAA	NONE	.	.	.	.	.	ENSP00000355866	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366899	Transcript	.	.	ENSG00000143507	3065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUS10_HUMAN	DUSP10	HGNC	.	.	UPI000003473B	SNV	DUSP10,3_prime_UTR_variant,,ENST00000544095,;DUSP10,3_prime_UTR_variant,,ENST00000323825,;DUSP10,3_prime_UTR_variant,,ENST00000366899,;DUSP10,non_coding_transcript_exon_variant,,ENST00000477026,;DUSP10,non_coding_transcript_exon_variant,,ENST00000468085,;DUSP10,downstream_gene_variant,,ENST00000494642,;	1775	15	28	SUCCESS
SYTL1	84958	.	GRCh37	1	27680404	27680404	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	49	80	0	ENST00000543823.1:c.*61A>G			ENST00000543823				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53286.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATAAAGTC	NONE	.	.	.	.	.	ENSP00000440704	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000543823	Transcript	.	.	ENSG00000142765	15584	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYTL1_HUMAN	SYTL1	HGNC	Q5SSC6_HUMAN	.	UPI0000074245	SNV	SYTL1,3_prime_UTR_variant,,ENST00000543823,;SYTL1,3_prime_UTR_variant,,ENST00000318074,;MAP3K6,downstream_gene_variant,,ENST00000374040,;MAP3K6,downstream_gene_variant,,ENST00000486046,;MAP3K6,downstream_gene_variant,,ENST00000357582,;MAP3K6,downstream_gene_variant,,ENST00000472410,;MAP3K6,downstream_gene_variant,,ENST00000493901,;SYTL1,non_coding_transcript_exon_variant,,ENST00000490170,;SYTL1,non_coding_transcript_exon_variant,,ENST00000475199,;SYTL1,non_coding_transcript_exon_variant,,ENST00000483926,;SYTL1,downstream_gene_variant,,ENST00000496001,;SYTL1,downstream_gene_variant,,ENST00000485269,;MAP3K6,downstream_gene_variant,,ENST00000470890,;MAP3K6,downstream_gene_variant,,ENST00000476509,;MAP3K6,downstream_gene_variant,,ENST00000495230,;	2212	80	108	SUCCESS
RBL1	5933	.	GRCh37	20	35627127	35627127	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs372378399	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	13	43	0	ENST00000373664.3:c.*35G>T			ENST00000373664	NM_002895.3			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS13289.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAATCTGAAA	NONE	byCluster	.	.	.	T:0.0001	ENSP00000362768	.	22/22	.	.	.	.	.	.	.	.	rs372378399	22/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,3_prime_UTR_variant,,ENST00000373664,;RBL1,downstream_gene_variant,,ENST00000344359,;	3309	43	60	SUCCESS
PRND	23627	.	GRCh37	20	4706087	4706087	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	51	0	ENST00000305817.2:c.*359C>A			ENST00000305817	NM_012409.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13081.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCAGAG	NONE	.	.	.	.	.	ENSP00000306900	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305817	Transcript	.	.	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,3_prime_UTR_variant,,ENST00000305817,;	961	51	57	SUCCESS
CLRN1	7401	.	GRCh37	3	150644729	150644729	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	32	0	ENST00000327047.1:c.*994T>A			ENST00000327047	NM_174878.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56285.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCCAGAACA	NONE	.	994	.	.	.	ENSP00000329158	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328863	Transcript	.	.	ENSG00000163646	12605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLRN1_HUMAN	CLRN1	HGNC	.	.	UPI0001E43709	SNV	CLRN1,3_prime_UTR_variant,,ENST00000327047,;CLRN1,intron_variant,,ENST00000295911,;CLRN1,downstream_gene_variant,,ENST00000485607,;CLRN1,downstream_gene_variant,,ENST00000328863,;CLRN1,downstream_gene_variant,,ENST00000468836,;RP11-166N6.2,intron_variant,,ENST00000469268,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.3,intron_variant,,ENST00000562308,;RP11-166N6.3,intron_variant,,ENST00000569170,;RP11-166N6.3,intron_variant,,ENST00000565169,;	.	32	53	SUCCESS
ATP10B	23120	.	GRCh37	5	159992332	159992332	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	38	0	ENST00000327245.5:c.*128T>C			ENST00000327245	NM_025153.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43394.1	.	MUTECT|MUSE	.	ATGGAAGTCAA	NONE	.	.	.	.	.	ENSP00000313600	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000327245	Transcript	.	.	ENSG00000118322	13543	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AT10B_HUMAN	ATP10B	HGNC	.	.	UPI0000191DAE	SNV	ATP10B,3_prime_UTR_variant,,ENST00000327245,;	5361	38	35	SUCCESS
HNRNPH1	3187	.	GRCh37	5	179041762	179041762	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	16	0	ENST00000356731.5:c.*199A>G			ENST00000356731				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4446.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACTGTTAA	NONE	.	.	.	.	.	ENSP00000349168	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000356731	Transcript	1	.	ENSG00000169045	5041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRH1_HUMAN	HNRNPH1	HGNC	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN	.	UPI0000000C2B	SNV	HNRNPH1,3_prime_UTR_variant,,ENST00000523449,;HNRNPH1,3_prime_UTR_variant,,ENST00000329433,;HNRNPH1,3_prime_UTR_variant,,ENST00000511300,;HNRNPH1,3_prime_UTR_variant,,ENST00000442819,;HNRNPH1,3_prime_UTR_variant,,ENST00000356731,;HNRNPH1,3_prime_UTR_variant,,ENST00000393432,;HNRNPH1,3_prime_UTR_variant,,ENST00000510411,;HNRNPH1,3_prime_UTR_variant,,ENST00000519033,;HNRNPH1,downstream_gene_variant,,ENST00000504348,;RUFY1,downstream_gene_variant,,ENST00000319449,;HNRNPH1,downstream_gene_variant,,ENST00000523921,;HNRNPH1,downstream_gene_variant,,ENST00000510431,;HNRNPH1,downstream_gene_variant,,ENST00000505811,;RUFY1,downstream_gene_variant,,ENST00000377001,;HNRNPH1,downstream_gene_variant,,ENST00000523137,;HNRNPH1,downstream_gene_variant,,ENST00000523136,;HNRNPH1,downstream_gene_variant,,ENST00000519056,;HNRNPH1,downstream_gene_variant,,ENST00000508103,;RUFY1,downstream_gene_variant,,ENST00000437570,;RUFY1,downstream_gene_variant,,ENST00000393438,;HNRNPH1,downstream_gene_variant,,ENST00000506721,;HNRNPH1,downstream_gene_variant,,ENST00000513225,;HNRNPH1,downstream_gene_variant,,ENST00000521790,;HNRNPH1,downstream_gene_variant,,ENST00000521173,;HNRNPH1,downstream_gene_variant,,ENST00000503105,;HNRNPH1,downstream_gene_variant,,ENST00000518548,;RUFY1,downstream_gene_variant,,ENST00000508797,;HNRNPH1,downstream_gene_variant,,ENST00000524180,;HNRNPH1,3_prime_UTR_variant,,ENST00000510678,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000524179,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000515481,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502904,;HNRNPH1,downstream_gene_variant,,ENST00000522958,;HNRNPH1,downstream_gene_variant,,ENST00000502632,;HNRNPH1,downstream_gene_variant,,ENST00000519958,;HNRNPH1,downstream_gene_variant,,ENST00000514731,;HNRNPH1,downstream_gene_variant,,ENST00000504549,;HNRNPH1,downstream_gene_variant,,ENST00000520415,;HNRNPH1,downstream_gene_variant,,ENST00000521720,;HNRNPH1,downstream_gene_variant,,ENST00000504779,;	3085	16	14	SUCCESS
CNPY1	285888	.	GRCh37	7	155295731	155295731	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	16	0	ENST00000321736.5:c.*32A>G			ENST00000321736	NM_001103176.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTTACTCC	NONE	.	.	.	.	.	ENSP00000317439	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000321736	Transcript	.	.	ENSG00000146910	27786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNPY1_HUMAN	CNPY1	HGNC	.	.	UPI00001B64BC	SNV	CNPY1,3_prime_UTR_variant,,ENST00000321736,;CNPY1,3_prime_UTR_variant,,ENST00000406197,;	474	16	29	SUCCESS
TTLL11	158135	.	GRCh37	9	124584786	124584786	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	21	30	0	ENST00000321582.5:c.*80G>A			ENST00000321582	NM_001139442.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48012.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCCTCTGC	NONE	.	.	.	.	.	ENSP00000321346	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000321582	Transcript	.	.	ENSG00000175764	18113	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TTLL11	HGNC	F8W6M1_HUMAN	.	UPI0000E0BF7B	SNV	TTLL11,3_prime_UTR_variant,,ENST00000321582,;RP11-244O19.1,upstream_gene_variant,,ENST00000567068,;TTLL11,non_coding_transcript_exon_variant,,ENST00000474723,;TTLL11,non_coding_transcript_exon_variant,,ENST00000373778,;TTLL11,intron_variant,,ENST00000486362,;	2671	30	63	SUCCESS
PLP1	5354	.	GRCh37	X	103045665	103045665	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A3KF-01	TCGA-BC-A3KF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	28	0	ENST00000418604.1:c.*139G>A			ENST00000418604	NM_001128834.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14513.1	.	MUTECT|MUSE	.	GGAGAGTCTTG	NONE	.	.	.	.	.	ENSP00000405750	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000418604	Transcript	.	.	ENSG00000123560	9086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYPR_HUMAN	PLP1	HGNC	Q9P2Z7_HUMAN,B4DI21_HUMAN,B1B1G6_HUMAN,B1B1G5_HUMAN,B1B1G4_HUMAN,B1B1G3_HUMAN,B1B1G2_HUMAN,B1B1G1_HUMAN,A8K9L3_HUMAN	.	UPI000000031E	SNV	PLP1,3_prime_UTR_variant,,ENST00000361621,;PLP1,3_prime_UTR_variant,,ENST00000303958,;PLP1,3_prime_UTR_variant,,ENST00000418604,;PLP1,downstream_gene_variant,,ENST00000455268,;PLP1,downstream_gene_variant,,ENST00000429977,;PLP1,downstream_gene_variant,,ENST00000434483,;PLP1,downstream_gene_variant,,ENST00000422393,;PLP1,downstream_gene_variant,,ENST00000443502,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000466486,;PLP1,downstream_gene_variant,,ENST00000461231,;PLP1,downstream_gene_variant,,ENST00000479569,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000485688,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,downstream_gene_variant,,ENST00000485931,;PLP1,downstream_gene_variant,,ENST00000494475,;PLP1,downstream_gene_variant,,ENST00000478642,;PLP1,downstream_gene_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000494119,;PLP1,downstream_gene_variant,,ENST00000476160,;PLP1,downstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	1253	28	20	SUCCESS
PAPD5	0	.	GRCh37	16	50263329	50263329	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	23	0	ENST00000436909.3:c.*90T>A			ENST00000436909	NM_001040285.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54006.1	.	MUTECT|MUSE	.	GAGCCTCACAC	NONE	.	.	.	.	.	ENSP00000396995	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000436909	Transcript	.	.	ENSG00000121274	30758	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAPD5_HUMAN	PAPD5	HGNC	Q5EBM7_HUMAN,G4U4J3_HUMAN,B7ZLC1_HUMAN,B4DRJ7_HUMAN	.	UPI00017A7DC6	SNV	PAPD5,3_prime_UTR_variant,,ENST00000561678,;PAPD5,3_prime_UTR_variant,,ENST00000436909,;PAPD5,3_prime_UTR_variant,,ENST00000357464,;PAPD5,non_coding_transcript_exon_variant,,ENST00000573002,;PAPD5,intron_variant,,ENST00000562717,;	2222	23	24	SUCCESS
TMUB2	79089	.	GRCh37	17	42268309	42268309	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	28	0	ENST00000538716.2:c.*77A>C			ENST00000538716	NM_001076674.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54134.1	.	MUTECT|MUSE	.	GGCCCAAGGGC	NONE	.	.	.	.	.	ENSP00000466971	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000587989	Transcript	.	.	ENSG00000168591	28459	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMUB2_HUMAN	TMUB2	HGNC	.	.	UPI0000201381	SNV	TMUB2,3_prime_UTR_variant,,ENST00000319511,;TMUB2,3_prime_UTR_variant,,ENST00000357984,;TMUB2,3_prime_UTR_variant,,ENST00000587172,;TMUB2,3_prime_UTR_variant,,ENST00000589785,;TMUB2,3_prime_UTR_variant,,ENST00000446571,;TMUB2,3_prime_UTR_variant,,ENST00000590235,;TMUB2,3_prime_UTR_variant,,ENST00000592825,;TMUB2,3_prime_UTR_variant,,ENST00000587989,;TMUB2,3_prime_UTR_variant,,ENST00000538716,;TMUB2,3_prime_UTR_variant,,ENST00000589184,;TMUB2,intron_variant,,ENST00000587630,;ATXN7L3,downstream_gene_variant,,ENST00000591295,;TMUB2,downstream_gene_variant,,ENST00000589856,;ATXN7L3,downstream_gene_variant,,ENST00000389384,;ATXN7L3,downstream_gene_variant,,ENST00000587097,;ATXN7L3,downstream_gene_variant,,ENST00000454077,;ATXN7L3,downstream_gene_variant,,ENST00000590537,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;ATXN7L3,downstream_gene_variant,,ENST00000593073,;TMUB2,3_prime_UTR_variant,,ENST00000587326,;ATXN7L3,downstream_gene_variant,,ENST00000587022,;ATXN7L3,downstream_gene_variant,,ENST00000591807,;TMUB2,downstream_gene_variant,,ENST00000588413,;ATXN7L3,downstream_gene_variant,,ENST00000586688,;ATXN7L3,downstream_gene_variant,,ENST00000589607,;TMUB2,downstream_gene_variant,,ENST00000587775,;	1196	28	12	SUCCESS
TAC4	255061	.	GRCh37	17	47915949	47915949	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	127	0	ENST00000334568.4:c.*55T>C			ENST00000334568	NM_170685.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42357.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGACATCCAG	NONE	.	.	.	.	.	ENSP00000334042	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000334568	Transcript	.	.	ENSG00000176358	16641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKN4_HUMAN	TAC4	HGNC	.	.	UPI000019219A	SNV	TAC4,3_prime_UTR_variant,,ENST00000326219,;TAC4,3_prime_UTR_variant,,ENST00000398154,;TAC4,3_prime_UTR_variant,,ENST00000334568,;TAC4,3_prime_UTR_variant,,ENST00000352793,;TAC4,3_prime_UTR_variant,,ENST00000436235,;RP11-304F15.7,downstream_gene_variant,,ENST00000574365,;	397	127	79	SUCCESS
C1orf213	0	.	GRCh37	1	23698088	23698088	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	95	0	ENST00000335648.3:c.*1917A>G			ENST00000335648				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCAGGGTC	NONE	.	.	.	.	.	ENSP00000441287	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335648	Transcript	.	.	ENSG00000249087	25122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA213_HUMAN	C1orf213	HGNC	.	.	UPI000013F6D0	SNV	C1orf213,3_prime_UTR_variant,,ENST00000454117,;C1orf213,3_prime_UTR_variant,,ENST00000518600,;C1orf213,3_prime_UTR_variant,,ENST00000335648,;C1orf213,3_prime_UTR_variant,,ENST00000437367,;C1orf213,downstream_gene_variant,,ENST00000518821,;ZNF436,upstream_gene_variant,,ENST00000314011,;ZNF436,upstream_gene_variant,,ENST00000374608,;Y_RNA,downstream_gene_variant,,ENST00000364535,;C1orf213,non_coding_transcript_exon_variant,,ENST00000458053,;	2360	95	79	SUCCESS
PTTG1IP	754	.	GRCh37	21	46271493	46271493	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1252306998	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	76	0	ENST00000330938.3:c.*3C>T			ENST00000330938	NM_004339.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13715.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGCTTTA	NONE	.	.	.	.	.	ENSP00000328325	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330938	Transcript	.	.	ENSG00000183255	13524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTTG_HUMAN	PTTG1IP	HGNC	A8K274_HUMAN	.	UPI00000015F0	SNV	PTTG1IP,missense_variant,p.Ala73Val,ENST00000445724,;PTTG1IP,3_prime_UTR_variant,,ENST00000397887,;PTTG1IP,3_prime_UTR_variant,,ENST00000330938,;PTTG1IP,3_prime_UTR_variant,,ENST00000397886,;PTTG1IP,downstream_gene_variant,,ENST00000494690,;PTTG1IP,downstream_gene_variant,,ENST00000474737,;	767	76	67	SUCCESS
HPCAL1	3241	.	GRCh37	2	10567088	10567088	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	18	0	ENST00000307845.3:c.*141G>A			ENST00000307845	NM_002149.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1671.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCCGGTGGCT	NONE	.	.	.	.	.	ENSP00000371184	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381765	Transcript	.	.	ENSG00000115756	5145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPCL1_HUMAN	HPCAL1	HGNC	Q6FGY1_HUMAN,O75544_HUMAN,C9JW46_HUMAN	.	UPI0000167B8D	SNV	HPCAL1,3_prime_UTR_variant,,ENST00000422133,;HPCAL1,3_prime_UTR_variant,,ENST00000307845,;HPCAL1,3_prime_UTR_variant,,ENST00000381765,;HPCAL1,3_prime_UTR_variant,,ENST00000419810,;	1249	18	16	SUCCESS
TADA2B	93624	.	GRCh37	4	7056905	7056905	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs999396930	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	12	0	ENST00000310074.7:c.*124A>G			ENST00000310074	NM_152293.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGATAGAA	NONE	.	.	.	.	.	ENSP00000308022	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000310074	Transcript	.	.	ENSG00000173011	30781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAD2B_HUMAN	TADA2B	HGNC	D6RJ05_HUMAN,D6RC20_HUMAN	.	UPI00001996F4	SNV	TADA2B,3_prime_UTR_variant,,ENST00000515646,;TADA2B,3_prime_UTR_variant,,ENST00000310074,;TADA2B,3_prime_UTR_variant,,ENST00000512388,;TADA2B,downstream_gene_variant,,ENST00000506692,;GRPEL1,downstream_gene_variant,,ENST00000264954,;TADA2B,downstream_gene_variant,,ENST00000510704,;	1576	12	15	SUCCESS
RNF182	221687	.	GRCh37	6	13979931	13979931	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs939738822	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	21	0	ENST00000488300.1:c.*1837A>T			ENST00000488300	NM_152737.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4531.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAAAAAA	NONE	.	.	.	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	SNV	RNF182,3_prime_UTR_variant,,ENST00000537663,;RNF182,3_prime_UTR_variant,,ENST00000544682,;RNF182,3_prime_UTR_variant,,ENST00000488300,;RNF182,3_prime_UTR_variant,,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000488763,;	3104	21	26	SUCCESS
SOX4	6659	.	GRCh37	6	21597981	21597981	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	19	38	0	ENST00000244745.1:c.*1791A>G			ENST00000244745	NM_003107.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGATTTCC	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;RP3-322L4.2,upstream_gene_variant,,ENST00000404566,;	4010	38	21	SUCCESS
NIPSNAP3A	25934	.	GRCh37	9	107521688	107521688	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BC-A5W4-01	TCGA-BC-A5W4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	25	0	ENST00000374767.4:c.*69T>G			ENST00000374767	NM_015469.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6760.1	.	MUTECT|MUSE	.	AATTCTCCCAA	NONE	.	.	.	.	.	ENSP00000363899	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000374767	Transcript	.	.	ENSG00000136783	23619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPS3A_HUMAN	NIPSNAP3A	HGNC	.	.	UPI0000130401	SNV	NIPSNAP3A,3_prime_UTR_variant,,ENST00000374767,;NIPSNAP3B,upstream_gene_variant,,ENST00000374762,;NIPSNAP3A,downstream_gene_variant,,ENST00000471001,;NIPSNAP3B,upstream_gene_variant,,ENST00000461177,;NIPSNAP3B,upstream_gene_variant,,ENST00000460936,;	918	25	18	SUCCESS
KCNA4	3739	.	GRCh37	11	30032181	30032181	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	60	1	ENST00000328224.6:c.*83A>G			ENST00000328224	NM_002233.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41629.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TTGCATATTTC	NONE	.	.	.	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,3_prime_UTR_variant,,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	3279	62	44	SUCCESS
TRIAP1	51499	.	GRCh37	12	120882649	120882649	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs746454192	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	96	0	ENST00000546954.1:c.*26C>T			ENST00000546954	NM_016399.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9198.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGCGAAATC	NONE	byFrequency	.	.	.	.	ENSP00000449795	.	2/2	.	.	.	.	.	.	.	.	rs746454192	2/2	PASS	ENST00000546954	Transcript	.	.	ENSG00000170855	26937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIA1_HUMAN	TRIAP1	HGNC	.	.	UPI0000124E0B	SNV	TRIAP1,3_prime_UTR_variant,,ENST00000546954,;AL021546.6,intron_variant,,ENST00000551806,;GATC,upstream_gene_variant,,ENST00000229384,;COX6A1,downstream_gene_variant,,ENST00000229379,;GATC,upstream_gene_variant,,ENST00000551765,;TRIAP1,non_coding_transcript_exon_variant,,ENST00000302432,;COX6A1,downstream_gene_variant,,ENST00000549525,;GATC,upstream_gene_variant,,ENST00000548171,;	297	96	58	SUCCESS
CNOT2	4848	.	GRCh37	12	70747886	70747886	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	42	0	ENST00000229195.3:c.*191A>G			ENST00000229195	NM_014515.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31857.1	.	MUTECT|MUSE	.	CAACAACTAAA	NONE	.	.	.	.	.	ENSP00000229195	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000229195	Transcript	.	.	ENSG00000111596	7878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,3_prime_UTR_variant,,ENST00000229195,;CNOT2,3_prime_UTR_variant,,ENST00000418359,;CNOT2,downstream_gene_variant,,ENST00000551043,;CNOT2,downstream_gene_variant,,ENST00000548159,;CNOT2,downstream_gene_variant,,ENST00000548338,;CNOT2,downstream_gene_variant,,ENST00000551483,;CNOT2,downstream_gene_variant,,ENST00000549705,;CNOT2,downstream_gene_variant,,ENST00000549709,;CNOT2,downstream_gene_variant,,ENST00000550705,;CNOT2,downstream_gene_variant,,ENST00000546673,;CNOT2,downstream_gene_variant,,ENST00000551434,;	2393	42	24	SUCCESS
VWA3A	146177	.	GRCh37	16	22167465	22167465	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	17	0	ENST00000389398.5:c.*127G>T			ENST00000389398	NM_173615.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45441.1	.	RADIA|MUTECT|MUSE	.	CTCTGGAAGCT	NONE	.	.	.	.	.	ENSP00000374049	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000389398	Transcript	.	.	ENSG00000175267	27088	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VWA3A_HUMAN	VWA3A	HGNC	H3BTX3_HUMAN	.	UPI0001663067	SNV	VWA3A,3_prime_UTR_variant,,ENST00000389397,;VWA3A,3_prime_UTR_variant,,ENST00000389398,;VWA3A,downstream_gene_variant,,ENST00000563755,;VWA3A,downstream_gene_variant,,ENST00000299840,;	3778	17	10	SUCCESS
KCNK6	9424	.	GRCh37	19	38818068	38818068	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs749443797	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	18	0	ENST00000263372.3:c.*25G>A			ENST00000263372	NM_004823.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12513.1	.	RADIA|MUTECT|MUSE	.	GCTTGGGTGTG	NONE	byFrequency	.	.	.	.	ENSP00000263372	.	3/3	.	.	.	.	.	.	.	.	rs749443797	3/3	PASS	ENST00000263372	Transcript	.	.	ENSG00000099337	6281	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCNK6_HUMAN	KCNK6	HGNC	B2RDS2_HUMAN	.	UPI0000030CB7	SNV	KCNK6,3_prime_UTR_variant,,ENST00000263372,;AC026806.2,upstream_gene_variant,,ENST00000602211,;KCNK6,downstream_gene_variant,,ENST00000588137,;	1074	18	13	SUCCESS
KLK9	284366	.	GRCh37	19	51506316	51506316	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	A	rs760451917	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	25	1	ENST00000250366.6:c.*51C>T			ENST00000250366	NM_012315.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12816.1	.	SOMATICSNIPER|VARSCANS	.	ACCCCGTGCCC	NONE	.	.	.	.	.	ENSP00000366028	.	5/7	.	.	.	.	.	.	.	.	rs760451917	5/7	PASS	ENST00000376832	Transcript	.	.	ENSG00000213022	6370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK9_HUMAN	KLK9	HGNC	Q2XQG6_HUMAN,Q2XQG4_HUMAN	.	UPI000004CA0A	SNV	KLK9,3_prime_UTR_variant,,ENST00000376832,;KLK8,upstream_gene_variant,,ENST00000291726,;KLK9,downstream_gene_variant,,ENST00000594211,;KLK8,upstream_gene_variant,,ENST00000347619,;KLK8,upstream_gene_variant,,ENST00000391806,;KLK8,upstream_gene_variant,,ENST00000320838,;KLK8,upstream_gene_variant,,ENST00000600767,;KLK8,upstream_gene_variant,,ENST00000595238,;KLK8,upstream_gene_variant,,ENST00000593490,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK9,3_prime_UTR_variant,,ENST00000250366,;KLK9,3_prime_UTR_variant,,ENST00000599166,;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594669,;KLK8,upstream_gene_variant,,ENST00000599710,;	838	26	19	SUCCESS
MYADM	91663	.	GRCh37	19	54378038	54378038	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1486335185	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	87	1	ENST00000336967.3:c.*286T>C			ENST00000336967	NM_001020820.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12866.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	TTTTTTTTTTT	NONE	.	.	.	.	.	ENSP00000375649	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000391769	Transcript	.	.	ENSG00000179820	7544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MYADM_HUMAN	MYADM	HGNC	C9JZL8_HUMAN,C9JJV6_HUMAN,C9JC07_HUMAN,C9J5M0_HUMAN	.	UPI0000001BEF	SNV	MYADM,3_prime_UTR_variant,,ENST00000391771,;MYADM,3_prime_UTR_variant,,ENST00000391769,;MYADM,3_prime_UTR_variant,,ENST00000336967,;MYADM,3_prime_UTR_variant,,ENST00000391770,;PRKCG,upstream_gene_variant,,ENST00000479081,;MYADM,downstream_gene_variant,,ENST00000414489,;MYADM,downstream_gene_variant,,ENST00000391768,;MYADM,downstream_gene_variant,,ENST00000439000,;MYADM,downstream_gene_variant,,ENST00000448420,;MYADM,downstream_gene_variant,,ENST00000421337,;AC008440.5,non_coding_transcript_exon_variant,,ENST00000413496,;	1535	88	45	SUCCESS
ADORA3	140	.	GRCh37	1	112026306	112026306	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	8	169	0	ENST00000369717.4:c.*3G>T			ENST00000369717	NM_001081976.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS838.1	.	RADIA|MUTECT|MUSE	.	ATCTTCAGTCA	NONE	.	.	.	.	.	ENSP00000358730	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369716	Transcript	.	.	ENSG00000121933	268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AA3R_HUMAN	ADORA3	HGNC	.	.	UPI000004C602	SNV	ADORA3,3_prime_UTR_variant,,ENST00000414219,;ADORA3,3_prime_UTR_variant,,ENST00000369716,;ADORA3,3_prime_UTR_variant,,ENST00000443498,;ADORA3,3_prime_UTR_variant,,ENST00000369717,;ADORA3,downstream_gene_variant,,ENST00000442484,;ADORA3,downstream_gene_variant,,ENST00000463993,;ADORA3,downstream_gene_variant,,ENST00000472933,;	1181	169	87	SUCCESS
PYGO2	90780	.	GRCh37	1	154931237	154931237	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1184130457	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	8	63	2	ENST00000368457.2:c.*18A>G			ENST00000368457	NM_138300.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1075.1	.	SOMATICSNIPER|VARSCANS	.	TTCCCTGGGCC	NONE	.	.	.	.	.	ENSP00000357442	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368457	Transcript	.	.	ENSG00000163348	30257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PYGO2_HUMAN	PYGO2	HGNC	Q5T171_HUMAN,Q5T170_HUMAN	.	UPI00000015CD	SNV	PYGO2,3_prime_UTR_variant,,ENST00000368456,;PYGO2,3_prime_UTR_variant,,ENST00000368457,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000448116,;SHC1,downstream_gene_variant,,ENST00000368445,;PBXIP1,upstream_gene_variant,,ENST00000368460,;PBXIP1,upstream_gene_variant,,ENST00000539880,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000368453,;PBXIP1,upstream_gene_variant,,ENST00000368465,;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000368463,;SHC1,downstream_gene_variant,,ENST00000368450,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	1411	65	54	SUCCESS
PIK3R3	8503	.	GRCh37	1	46509300	46509300	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	72	2	ENST00000262741.5:c.*45A>G			ENST00000262741	NM_003629.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS529.1	.	SOMATICSNIPER|VARSCANS	.	AAAACTGTAGA	NONE	.	.	.	.	.	ENSP00000262741	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262741	Transcript	.	.	ENSG00000117461	8981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P55G_HUMAN	PIK3R3	HGNC	Q9UMI3_HUMAN,Q5T4P3_HUMAN	.	UPI000013D318	SNV	PIK3R3,3_prime_UTR_variant,,ENST00000372006,;PIK3R3,3_prime_UTR_variant,,ENST00000420542,;PIK3R3,3_prime_UTR_variant,,ENST00000262741,;PIK3R3,3_prime_UTR_variant,,ENST00000354242,;PIK3R3,3_prime_UTR_variant,,ENST00000340332,;PIK3R3,downstream_gene_variant,,ENST00000423209,;PIK3R3,downstream_gene_variant,,ENST00000540385,;RP4-533D7.4,upstream_gene_variant,,ENST00000450004,;PIK3R3,non_coding_transcript_exon_variant,,ENST00000488808,;	2121	74	29	SUCCESS
AC073869.2	0	.	GRCh37	2	132110882	132110882	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs1413442707	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	16	0				ENST00000417338				0	.	.	.	.	.	T	.	processed_pseudogene	YES	.	.	RADIA|MUTECT	.	CCCCTCGCCCC	NONE	.	70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000417338	Transcript	.	.	ENSG00000224425	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC073869.2	Clone_based_vega_gene	.	.	.	SNV	PLEKHB2,missense_variant,p.Ser238Leu,ENST00000404460,;PLEKHB2,missense_variant,p.Ser238Leu,ENST00000303908,;AC073869.2,upstream_gene_variant,,ENST00000417338,;	.	16	10	SUCCESS
REG3A	5068	.	GRCh37	2	79384339	79384339	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	57	1	ENST00000305165.2:c.*13G>A			ENST00000305165				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1965.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGACTTCCC	NONE	.	.	.	.	.	ENSP00000377456	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000393878	Transcript	.	.	ENSG00000172016	8601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REG3A_HUMAN	REG3A	HGNC	Q53S56_HUMAN	.	UPI0000001C5B	SNV	REG3A,3_prime_UTR_variant,,ENST00000305165,;REG3A,3_prime_UTR_variant,,ENST00000393878,;REG3A,3_prime_UTR_variant,,ENST00000409839,;AC011754.1,upstream_gene_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000464746,;REG3A,downstream_gene_variant,,ENST00000490901,;	796	58	39	SUCCESS
ANKRD23	200539	.	GRCh37	2	97505176	97505176	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	13	0	ENST00000318357.4:c.*110C>A			ENST00000318357	NM_144994.7			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2027.1	.	MUTECT|MUSE	.	CCAGAGAGGGA	NONE	.	.	.	.	.	ENSP00000321679	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000318357	Transcript	.	.	ENSG00000163126	24470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANR23_HUMAN	ANKRD23	HGNC	.	.	UPI000000D7C6	SNV	ANKRD23,3_prime_UTR_variant,,ENST00000331001,;ANKRD23,3_prime_UTR_variant,,ENST00000318357,;ANKRD23,3_prime_UTR_variant,,ENST00000418232,;ANKRD23,intron_variant,,ENST00000476975,;ANKRD23,downstream_gene_variant,,ENST00000462692,;ANKRD39,3_prime_UTR_variant,,ENST00000443120,;ANKRD23,non_coding_transcript_exon_variant,,ENST00000482175,;	1070	13	9	SUCCESS
NME5	8382	.	GRCh37	5	137451200	137451200	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	15	0	ENST00000265191.2:c.*170G>A			ENST00000265191	NM_003551.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4197.1	.	MUTECT|MUSE	.	TTTACCTTAAT	NONE	.	.	.	.	.	ENSP00000265191	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000265191	Transcript	.	.	ENSG00000112981	7853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDK5_HUMAN	NME5	HGNC	.	.	UPI000000129C	SNV	NME5,3_prime_UTR_variant,,ENST00000265191,;snoU13,upstream_gene_variant,,ENST00000459094,;RNU6-460P,upstream_gene_variant,,ENST00000391158,;NME5,downstream_gene_variant,,ENST00000514481,;NME5,non_coding_transcript_exon_variant,,ENST00000506657,;	859	15	10	SUCCESS
DENND2A	27147	.	GRCh37	7	140218297	140218297	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs191081679	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	31	0	ENST00000275884.6:c.*210G>T			ENST00000275884				0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS43659.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGACACGCCTG	NONE	byFrequency|by1000G	.	.	T:0.002	.	ENSP00000275884	T:0	19/19	.	.	.	.	.	.	.	.	rs191081679	19/19	PASS	ENST00000275884	Transcript	.	T:0.0004	ENSG00000146966	22212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	DEN2A_HUMAN	DENND2A	HGNC	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN	.	UPI00001C1E63	SNV	DENND2A,3_prime_UTR_variant,,ENST00000496613,;DENND2A,3_prime_UTR_variant,,ENST00000537639,;DENND2A,3_prime_UTR_variant,,ENST00000275884,;DENND2A,3_prime_UTR_variant,,ENST00000461883,;	3658	31	27	SUCCESS
RGP1	9827	.	GRCh37	9	35753017	35753017	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	3	55	0	ENST00000378078.4:c.*146G>T			ENST00000378078	NM_001080496.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43797.1	.	MUTECT|MUSE	.	GTTCAGAATAC	NONE	.	.	.	.	.	ENSP00000419194	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000436428	Transcript	.	.	ENSG00000215183	29663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSMP_HUMAN	MSMP	HGNC	.	.	UPI0000D4C1CA	SNV	MSMP,3_prime_UTR_variant,,ENST00000436428,;RGP1,3_prime_UTR_variant,,ENST00000378078,;GBA2,upstream_gene_variant,,ENST00000378094,;RGP1,downstream_gene_variant,,ENST00000456972,;GBA2,upstream_gene_variant,,ENST00000378103,;GBA2,upstream_gene_variant,,ENST00000545786,;RP11-112J3.15,downstream_gene_variant,,ENST00000425499,;MSMP,non_coding_transcript_exon_variant,,ENST00000414286,;GBA2,upstream_gene_variant,,ENST00000489025,;RGP1,intron_variant,,ENST00000496906,;	640	55	52	SUCCESS
CPXCR1	53336	.	GRCh37	X	88009778	88009778	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A69H-01	TCGA-BC-A69H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	30	136	2	ENST00000276127.4:c.*457A>T			ENST00000276127	NM_033048.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14458.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TGAAGACATAG	NONE	.	.	.	.	.	ENSP00000276127	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000276127	Transcript	.	.	ENSG00000147183	2332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CPXCR_HUMAN	CPXCR1	HGNC	.	.	UPI000007369F	SNV	CPXCR1,3_prime_UTR_variant,,ENST00000276127,;CPXCR1,3_prime_UTR_variant,,ENST00000373111,;	1622	138	42	SUCCESS
PGBD3	267004	.	GRCh37	10	50723368	50723368	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	39	0	ENST00000374127.3:c.*11C>T			ENST00000374127	NM_170753.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS60529.1	.	MUTECT|MUSE	.	GAGGTGGTGAC	NONE	.	.	.	.	.	ENSP00000423550	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000515869	Transcript	.	.	ENSG00000258838	48347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ERCC6-PGBD3	HGNC	E7EV46_HUMAN,D6R9X7_HUMAN	.	UPI00001F98BA	SNV	ERCC6-PGBD3,3_prime_UTR_variant,,ENST00000515869,;PGBD3,3_prime_UTR_variant,,ENST00000374127,;ERCC6-PGBD3,3_prime_UTR_variant,,ENST00000447839,;PGBD3,3_prime_UTR_variant,,ENST00000603152,;ERCC6,intron_variant,,ENST00000355832,;PGBD3,downstream_gene_variant,,ENST00000508005,;	3318	39	58	SUCCESS
TMEM132D	121256	.	GRCh37	12	129558280	129558280	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	23	0	ENST00000422113.2:c.*140C>G			ENST00000422113	NM_133448.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9266.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGGTCATT	NONE	.	.	.	.	.	ENSP00000408581	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000422113	Transcript	.	.	ENSG00000151952	29411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	T132D_HUMAN	TMEM132D	HGNC	.	.	UPI000023759C	SNV	TMEM132D,3_prime_UTR_variant,,ENST00000422113,;TMEM132D,3_prime_UTR_variant,,ENST00000389441,;	3767	23	35	SUCCESS
SLC4A8	9498	.	GRCh37	12	51901265	51901265	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	70	141	0	ENST00000453097.2:c.*43A>T			ENST00000453097	NM_001039960.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44890.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTCAGGGAA	NONE	.	.	.	.	.	ENSP00000405812	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000453097	Transcript	.	.	ENSG00000050438	11034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A8_HUMAN	SLC4A8	HGNC	.	.	UPI00005E6FB4	SNV	SLC4A8,3_prime_UTR_variant,,ENST00000453097,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546875,;	3542	141	178	SUCCESS
AICDA	57379	.	GRCh37	12	8756705	8756705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	12	0	ENST00000229335.6:c.*175A>G			ENST00000229335	NM_020661.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41747.1	.	RADIA|MUTECT|MUSE	.	GTTCCTTCTCT	NONE	.	.	.	.	.	ENSP00000229335	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000229335	Transcript	.	.	ENSG00000111732	13203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AICDA_HUMAN	AICDA	HGNC	Q7Z599_HUMAN,Q5XM85_HUMAN,Q546Y9_HUMAN,A3QRX5_HUMAN	.	UPI000000171E	SNV	AICDA,3_prime_UTR_variant,,ENST00000543081,;AICDA,3_prime_UTR_variant,,ENST00000229335,;AICDA,downstream_gene_variant,,ENST00000537228,;AICDA,downstream_gene_variant,,ENST00000545512,;AICDA,downstream_gene_variant,,ENST00000544516,;AICDA,downstream_gene_variant,,ENST00000545576,;	876	12	10	SUCCESS
C12orf50	160419	.	GRCh37	12	88373936	88373936	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	13	0	ENST00000298699.2:c.*172T>C			ENST00000298699	NM_152589.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9031.1	.	MUTECT|MUSE	.	AGAGCACAATG	NONE	.	.	.	.	.	ENSP00000298699	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000298699	Transcript	.	.	ENSG00000165805	26665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CL050_HUMAN	C12orf50	HGNC	F8VXH4_HUMAN	.	UPI0000071382	SNV	C12orf50,3_prime_UTR_variant,,ENST00000550553,;C12orf50,3_prime_UTR_variant,,ENST00000298699,;C12orf50,downstream_gene_variant,,ENST00000551944,;	1598	13	18	SUCCESS
GPR88	54112	.	GRCh37	1	101007289	101007289	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	115	87	160	1	ENST00000315033.4:c.*1612A>T			ENST00000315033	NM_022049.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS772.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACCACATCA	NONE	.	.	.	.	.	ENSP00000314223	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315033	Transcript	.	.	ENSG00000181656	4539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR88_HUMAN	GPR88	HGNC	.	.	UPI00001403B3	SNV	GPR88,3_prime_UTR_variant,,ENST00000315033,;	3206	161	202	SUCCESS
SUN2	25777	.	GRCh37	22	39131939	39131939	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	19	0	ENST00000405510.1:c.*333C>T			ENST00000405510	NM_001199580.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56231.1	.	MUTECT|MUSE	.	TCCCAGGCACC	NONE	.	.	.	.	.	ENSP00000385616	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000405018	Transcript	.	.	ENSG00000100242	14210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUN2_HUMAN	SUN2	HGNC	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN	.	UPI0001611146	SNV	SUN2,3_prime_UTR_variant,,ENST00000405018,;SUN2,3_prime_UTR_variant,,ENST00000405510,;SUN2,3_prime_UTR_variant,,ENST00000406622,;SUN2,3_prime_UTR_variant,,ENST00000216064,;GTPBP1,intron_variant,,ENST00000489527,;GTPBP1,intron_variant,,ENST00000458073,;SUN2,downstream_gene_variant,,ENST00000455125,;GTPBP1,downstream_gene_variant,,ENST00000216044,;SUN2,downstream_gene_variant,,ENST00000411587,;RP3-508I15.19,intron_variant,,ENST00000418803,;RP3-508I15.18,intron_variant,,ENST00000420118,;RP3-508I15.14,upstream_gene_variant,,ENST00000416406,;RP3-508I15.20,downstream_gene_variant,,ENST00000609428,;GTPBP1,intron_variant,,ENST00000487538,;GTPBP1,intron_variant,,ENST00000484971,;SUN2,downstream_gene_variant,,ENST00000477262,;SUN2,downstream_gene_variant,,ENST00000464202,;SUN2,downstream_gene_variant,,ENST00000469086,;GTPBP1,downstream_gene_variant,,ENST00000462332,;SUN2,downstream_gene_variant,,ENST00000470642,;AL021707.2,downstream_gene_variant,,ENST00000544928,;AL021707.1,downstream_gene_variant,,ENST00000366392,;	2824	19	25	SUCCESS
L3MBTL2	83746	.	GRCh37	22	41626420	41626420	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	18	0	ENST00000216237.5:c.*165G>A			ENST00000216237	NM_031488.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14011.1	.	MUTECT|MUSE	.	CTCCTGGGACC	NONE	.	.	.	.	.	ENSP00000216237	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000216237	Transcript	.	.	ENSG00000100395	18594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMBL2_HUMAN	L3MBTL2	HGNC	.	.	UPI000012E77E	SNV	L3MBTL2,3_prime_UTR_variant,,ENST00000216237,;CHADL,intron_variant,,ENST00000216241,;CHADL,intron_variant,,ENST00000417999,;CHADL,downstream_gene_variant,,ENST00000455425,;L3MBTL2,3_prime_UTR_variant,,ENST00000452106,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,;L3MBTL2,downstream_gene_variant,,ENST00000481902,;	2441	18	10	SUCCESS
PCDHB3	56132	.	GRCh37	5	140482819	140482819	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	24	0	ENST00000231130.2:c.*195G>C			ENST00000231130	NM_018937.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4245.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGTATTT	NONE	.	.	.	.	.	ENSP00000231130	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,3_prime_UTR_variant,,ENST00000231130,;AC005754.7,upstream_gene_variant,,ENST00000607216,;	2586	24	37	SUCCESS
FUT9	10690	.	GRCh37	6	96653094	96653094	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	167	98	229	0	ENST00000302103.5:c.*983G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTGATTTG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	2389	229	265	SUCCESS
CPNE3	8895	.	GRCh37	8	87570790	87570790	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs370576426	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	14	0	ENST00000198765.4:c.*152G>A			ENST00000198765				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6243.1	.	MUTECT|MUSE	.	TTCTAGGTTAT	NONE	.	.	.	.	.	ENSP00000430934	.	17/17	.	.	.	.	.	.	.	.	rs370576426	17/17	PASS	ENST00000521271	Transcript	.	.	ENSG00000085719	2316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPNE3_HUMAN	CPNE3	HGNC	E5RJ85_HUMAN,E5RHZ0_HUMAN,E5RG97_HUMAN,E5RG68_HUMAN,E5RFT7_HUMAN	.	UPI0000127C13	SNV	CPNE3,3_prime_UTR_variant,,ENST00000198765,;CPNE3,3_prime_UTR_variant,,ENST00000521271,;CNGB3,intron_variant,,ENST00000517327,;CPNE3,non_coding_transcript_exon_variant,,ENST00000517490,;CPNE3,downstream_gene_variant,,ENST00000517354,;	1928	14	25	SUCCESS
ZBTB43	23099	.	GRCh37	9	129596472	129596472	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	46	0	ENST00000373457.1:c.*280G>T			ENST00000373457				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGACAGA	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	1948	46	74	SUCCESS
PPP2R4	0	.	GRCh37	9	131909801	131909801	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	25	14	0	ENST00000337738.1:c.*58C>G			ENST00000337738	NM_178001.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6920.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCCAGCA	NONE	.	.	.	.	.	ENSP00000377036	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000393370	Transcript	.	.	ENSG00000119383	9308	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTPA_HUMAN	PPP2R4	HGNC	B7ZBQ0_HUMAN,A6PVN9_HUMAN,A6PVN8_HUMAN,A6PVN7_HUMAN	.	UPI000013D6D6	SNV	PPP2R4,3_prime_UTR_variant,,ENST00000357197,;PPP2R4,3_prime_UTR_variant,,ENST00000434095,;PPP2R4,3_prime_UTR_variant,,ENST00000432651,;PPP2R4,3_prime_UTR_variant,,ENST00000393370,;PPP2R4,3_prime_UTR_variant,,ENST00000419582,;PPP2R4,3_prime_UTR_variant,,ENST00000337738,;PPP2R4,3_prime_UTR_variant,,ENST00000358994,;PPP2R4,3_prime_UTR_variant,,ENST00000414510,;PPP2R4,3_prime_UTR_variant,,ENST00000355007,;PPP2R4,3_prime_UTR_variant,,ENST00000435132,;PPP2R4,3_prime_UTR_variant,,ENST00000348141,;PPP2R4,3_prime_UTR_variant,,ENST00000347048,;PPP2R4,3_prime_UTR_variant,,ENST00000423100,;PPP2R4,downstream_gene_variant,,ENST00000432124,;PPP2R4,downstream_gene_variant,,ENST00000435305,;PPP2R4,downstream_gene_variant,,ENST00000436883,;PPP2R4,downstream_gene_variant,,ENST00000524946,;PPP2R4,downstream_gene_variant,,ENST00000452489,;PPP2R4,downstream_gene_variant,,ENST00000411917,;PPP2R4,downstream_gene_variant,,ENST00000417728,;	1313	14	38	SUCCESS
DYNLT3	6990	.	GRCh37	X	37699825	37699825	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs369349672	.	TCGA-BC-A8YO-01	TCGA-BC-A8YO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	194	383	1	ENST00000378578.4:c.*3G>A			ENST00000378578	NM_006520.2			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS14243.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTCAGTTA	NONE	byFrequency|byCluster	.	.	.	T:0.0003	ENSP00000367841	.	5/5	.	.	.	.	.	.	.	.	rs369349672	5/5	PASS	ENST00000378578	Transcript	.	.	ENSG00000165169	11694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYLT3_HUMAN	DYNLT3	HGNC	Q6ICS3_HUMAN	.	UPI0000000C1C	SNV	DYNLT3,3_prime_UTR_variant,,ENST00000378578,;DYNLT3,3_prime_UTR_variant,,ENST00000432389,;DYNLT3,intron_variant,,ENST00000378581,;TM4SF2,intron_variant,,ENST00000465127,;	481	384	266	SUCCESS
MMP27	64066	.	GRCh37	11	102562464	102562464	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	13	0	ENST00000260229.4:c.*33T>C			ENST00000260229	NM_022122.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8319.1	.	RADIA|VARSCANS	.	TTAAAAGACCT	NONE	.	.	.	.	.	ENSP00000260229	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000260229	Transcript	.	.	ENSG00000137675	14250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP27_HUMAN	MMP27	HGNC	.	.	UPI00001AE7D3	SNV	MMP27,3_prime_UTR_variant,,ENST00000260229,;	1667	13	28	SUCCESS
DHRS11	79154	.	GRCh37	17	34956743	34956743	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs532106063	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	23	0	ENST00000251312.5:c.*111G>A			ENST00000251312	NM_024308.3			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS11315.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCGACCAG	NONE	by1000G	.	.	A:0	.	ENSP00000251312	A:0	7/7	.	.	.	.	.	.	.	.	rs532106063	7/7	PASS	ENST00000251312	Transcript	.	A:0.0002	ENSG00000108272	28639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DHR11_HUMAN	DHRS11	HGNC	K7EK68_HUMAN	.	UPI0000038A01	SNV	DHRS11,3_prime_UTR_variant,,ENST00000590554,;DHRS11,3_prime_UTR_variant,,ENST00000585376,;DHRS11,3_prime_UTR_variant,,ENST00000251312,;DHRS11,downstream_gene_variant,,ENST00000491046,;MRM1,upstream_gene_variant,,ENST00000585770,;MRM1,upstream_gene_variant,,ENST00000250156,;DHRS11,downstream_gene_variant,,ENST00000394445,;DHRS11,non_coding_transcript_exon_variant,,ENST00000593204,;DHRS11,non_coding_transcript_exon_variant,,ENST00000586848,;DHRS11,downstream_gene_variant,,ENST00000590527,;	1106	23	28	SUCCESS
ABCA10	10349	.	GRCh37	17	67144897	67144897	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	23	0	ENST00000269081.4:c.*71T>C			ENST00000269081	NM_080282.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11684.1	.	MUTECT|MUSE	.	AGGAAACATTC	NONE	.	.	.	.	.	ENSP00000269081	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000269081	Transcript	.	.	ENSG00000154263	30	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCAA_HUMAN	ABCA10	HGNC	K7ERP5_HUMAN	.	UPI000013D7F6	SNV	ABCA10,3_prime_UTR_variant,,ENST00000416101,;ABCA10,3_prime_UTR_variant,,ENST00000269081,;ABCA10,intron_variant,,ENST00000522787,;ABCA10,intron_variant,,ENST00000521538,;ABCA10,non_coding_transcript_exon_variant,,ENST00000519732,;ABCA10,3_prime_UTR_variant,,ENST00000523419,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;ABCA10,non_coding_transcript_exon_variant,,ENST00000524231,;ABCA10,non_coding_transcript_exon_variant,,ENST00000588514,;	5613	23	34	SUCCESS
NIFK	84365	.	GRCh37	2	122485127	122485127	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs575350480	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	39	0	ENST00000285814.4:c.*173G>A			ENST00000285814	NM_032390.4			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS2135.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTCAGCCA	NONE	byFrequency|byCluster|by1000G	.	.	T:0.001	.	ENSP00000285814	T:0	7/7	.	.	.	.	.	.	.	.	rs575350480	7/7	PASS	ENST00000285814	Transcript	.	T:0.0022	ENSG00000155438	17838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0102	.	.	MK67I_HUMAN	NIFK	HGNC	C9J808_HUMAN	.	UPI00000738EB	SNV	NIFK,3_prime_UTR_variant,,ENST00000285814,;NIFK,3_prime_UTR_variant,,ENST00000423105,;NIFK,downstream_gene_variant,,ENST00000451734,;NIFK,downstream_gene_variant,,ENST00000447132,;NIFK-AS1,intron_variant,,ENST00000419902,;NIFK,downstream_gene_variant,,ENST00000498570,;NIFK,downstream_gene_variant,,ENST00000481978,;NIFK,downstream_gene_variant,,ENST00000477693,;	1128	39	44	SUCCESS
CD200	4345	.	GRCh37	3	112080568	112080568	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	16	0	ENST00000473539.1:c.*171T>C			ENST00000473539	NM_001004196.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33818.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGTTTGAA	NONE	.	.	.	.	.	ENSP00000420298	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000473539	Transcript	.	.	ENSG00000091972	7203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OX2G_HUMAN	CD200	HGNC	U3KQQ2_HUMAN,F8W7G1_HUMAN	.	UPI00004DF0E4	SNV	CD200,3_prime_UTR_variant,,ENST00000315711,;CD200,3_prime_UTR_variant,,ENST00000383681,;CD200,3_prime_UTR_variant,,ENST00000473539,;CD200,3_prime_UTR_variant,,ENST00000478595,;	1113	16	26	SUCCESS
SFXN1	94081	.	GRCh37	5	174953760	174953760	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	31	56	0	ENST00000321442.5:c.*23C>T			ENST00000321442	NM_022754.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4394.1	.	RADIA|MUTECT|MUSE	.	TGCAGCTCATT	NONE	.	.	.	.	.	ENSP00000316905	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000321442	Transcript	.	.	ENSG00000164466	16085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SFXN1_HUMAN	SFXN1	HGNC	D6RFI0_HUMAN,D6RDG7_HUMAN	.	UPI0000044799	SNV	SFXN1,3_prime_UTR_variant,,ENST00000321442,;SFXN1,non_coding_transcript_exon_variant,,ENST00000421887,;SFXN1,downstream_gene_variant,,ENST00000507823,;	1246	56	94	SUCCESS
SNX14	57231	.	GRCh37	6	86215679	86215679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	28	25	0	ENST00000314673.3:c.*6T>C			ENST00000314673	NM_153816.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5004.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAAGTGT	NONE	.	.	.	.	.	ENSP00000313121	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000314673	Transcript	.	.	ENSG00000135317	14977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX14_HUMAN	SNX14	HGNC	E2QRM8_HUMAN	.	UPI000013F8C8	SNV	SNX14,3_prime_UTR_variant,,ENST00000505648,;SNX14,3_prime_UTR_variant,,ENST00000513865,;SNX14,3_prime_UTR_variant,,ENST00000369627,;SNX14,3_prime_UTR_variant,,ENST00000314673,;SNX14,3_prime_UTR_variant,,ENST00000346348,;SNX14,downstream_gene_variant,,ENST00000418862,;SNX14,downstream_gene_variant,,ENST00000508658,;SNX14,downstream_gene_variant,,ENST00000515216,;SNX14,non_coding_transcript_exon_variant,,ENST00000508980,;SNX14,non_coding_transcript_exon_variant,,ENST00000503491,;SNX14,non_coding_transcript_exon_variant,,ENST00000474645,;	3024	25	53	SUCCESS
ARL4A	10124	.	GRCh37	7	12729892	12729892	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	57	0				ENST00000356797				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCAGGATT	NONE	.	.	.	.	.	ENSP00000379898	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396663	Transcript	.	.	ENSG00000122644	695	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL4A_HUMAN	ARL4A	HGNC	C9J7Q9_HUMAN	.	UPI000005273E	SNV	ARL4A,3_prime_UTR_variant,,ENST00000396663,;ARL4A,downstream_gene_variant,,ENST00000404894,;ARL4A,downstream_gene_variant,,ENST00000396664,;ARL4A,downstream_gene_variant,,ENST00000396662,;ARL4A,downstream_gene_variant,,ENST00000439721,;ARL4A,downstream_gene_variant,,ENST00000356797,;CTD-2320J21.1,downstream_gene_variant,,ENST00000604949,;	2495	57	86	SUCCESS
CTSB	1508	.	GRCh37	8	11702606	11702606	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	18	35	0	ENST00000345125.3:c.*28T>C			ENST00000345125	NM_147781.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5986.1	.	MUTECT|MUSE	.	CCCCCAGGACT	NONE	.	.	.	.	.	ENSP00000345672	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000353047	Transcript	.	.	ENSG00000164733	2527	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CATB_HUMAN	CTSB	HGNC	R4GMQ5_HUMAN,Q8TAC7_HUMAN,E9PSG5_HUMAN,E9PS78_HUMAN,E9PR54_HUMAN,E9PR00_HUMAN,E9PQM1_HUMAN,E9PNL5_HUMAN,E9PLY3_HUMAN,E9PL32_HUMAN,E9PKX0_HUMAN,E9PKQ7_HUMAN,E9PJ67_HUMAN,E9PIS1_HUMAN,E9PID0_HUMAN,E9PHZ5_HUMAN	.	UPI000013E3F0	SNV	CTSB,3_prime_UTR_variant,,ENST00000453527,;CTSB,3_prime_UTR_variant,,ENST00000345125,;CTSB,3_prime_UTR_variant,,ENST00000530640,;CTSB,3_prime_UTR_variant,,ENST00000353047,;CTSB,3_prime_UTR_variant,,ENST00000415599,;CTSB,3_prime_UTR_variant,,ENST00000434271,;CTSB,3_prime_UTR_variant,,ENST00000531089,;CTSB,3_prime_UTR_variant,,ENST00000533455,;CTSB,3_prime_UTR_variant,,ENST00000534510,;CTSB,downstream_gene_variant,,ENST00000526645,;CTSB,downstream_gene_variant,,ENST00000534149,;CTSB,downstream_gene_variant,,ENST00000530296,;CTSB,downstream_gene_variant,,ENST00000534636,;CTSB,downstream_gene_variant,,ENST00000527243,;CTSB,downstream_gene_variant,,ENST00000526195,;CTSB,downstream_gene_variant,,ENST00000533572,;RP11-589N15.2,downstream_gene_variant,,ENST00000602711,;CTSB,downstream_gene_variant,,ENST00000533110,;CTSB,downstream_gene_variant,,ENST00000530290,;CTSB,downstream_gene_variant,,ENST00000525076,;CTSB,downstream_gene_variant,,ENST00000530624,;CTSB,3_prime_UTR_variant,,ENST00000526481,;CTSB,3_prime_UTR_variant,,ENST00000531551,;CTSB,non_coding_transcript_exon_variant,,ENST00000420692,;CTSB,downstream_gene_variant,,ENST00000532409,;	1302	35	37	SUCCESS
ZNF483	158399	.	GRCh37	9	114305543	114305543	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BD-A2L6-01	TCGA-BD-A2L6-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000309235.5:c.*93C>T			ENST00000309235	NM_133464.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35106.1	.	MUTECT|MUSE	.	AGCTGCAGCTT	NONE	.	.	.	.	.	ENSP00000311679	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000309235	Transcript	.	.	ENSG00000173258	23384	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN483_HUMAN	ZNF483	HGNC	.	.	UPI00001C1EBF	SNV	ZNF483,3_prime_UTR_variant,,ENST00000309235,;ZNF483,intron_variant,,ENST00000358151,;ZNF483,downstream_gene_variant,,ENST00000355824,;	2486	8	10	SUCCESS
MYEF2	50804	.	GRCh37	15	48433586	48433586	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	20	0	ENST00000324324.7:c.*1519G>T			ENST00000324324	NM_016132.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32230.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCAACAT	NONE	.	.	.	.	.	ENSP00000316950	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000324324	Transcript	.	.	ENSG00000104177	17940	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,3_prime_UTR_variant,,ENST00000324324,;SLC24A5,intron_variant,,ENST00000341459,;SLC24A5,intron_variant,,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000560172,;MYEF2,downstream_gene_variant,,ENST00000558395,;MYEF2,downstream_gene_variant,,ENST00000267836,;MYEF2,non_coding_transcript_exon_variant,,ENST00000558289,;MYEF2,downstream_gene_variant,,ENST00000560530,;SLC24A5,downstream_gene_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000559057,;	3602	20	22	SUCCESS
CRHR1	1394	.	GRCh37	17	43912204	43912204	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	29	0	ENST00000398285.3:c.*74C>T			ENST00000398285	NM_001145146.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45712.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGCCTGTG	NONE	.	.	.	.	.	ENSP00000381333	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000398285	Transcript	.	.	ENSG00000120088	2357	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRFR1_HUMAN	CRHR1	HGNC	.	.	UPI0000128429	SNV	CRHR1,3_prime_UTR_variant,,ENST00000398285,;CRHR1,3_prime_UTR_variant,,ENST00000339069,;CRHR1,3_prime_UTR_variant,,ENST00000314537,;CRHR1,downstream_gene_variant,,ENST00000580876,;CRHR1,downstream_gene_variant,,ENST00000293493,;CRHR1,downstream_gene_variant,,ENST00000352855,;CRHR1,downstream_gene_variant,,ENST00000577353,;CRHR1,3_prime_UTR_variant,,ENST00000535778,;CRHR1,3_prime_UTR_variant,,ENST00000347197,;CRHR1,3_prime_UTR_variant,,ENST00000583888,;CRHR1,downstream_gene_variant,,ENST00000580955,;CRHR1,downstream_gene_variant,,ENST00000581479,;CRHR1,downstream_gene_variant,,ENST00000582766,;	1409	29	29	SUCCESS
C17orf72	0	.	GRCh37	17	62081480	62081480	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	10	0	ENST00000412177.1:c.*2359G>C			ENST00000412177	NM_001164257.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54157.1	.	MUTECT|MUSE	.	CAGTTGAGGAT	NONE	.	1604	.	.	.	ENSP00000396936	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425164	Transcript	.	.	ENSG00000224383	25673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CQ072_HUMAN	C17orf72	HGNC	.	.	UPI0001AE6728	SNV	C17orf72,3_prime_UTR_variant,,ENST00000412177,;ICAM2,intron_variant,,ENST00000418105,;ICAM2,intron_variant,,ENST00000578379,;ICAM2,intron_variant,,ENST00000579788,;ICAM2,intron_variant,,ENST00000584084,;ICAM2,intron_variant,,ENST00000579687,;ICAM2,intron_variant,,ENST00000578313,;ICAM2,intron_variant,,ENST00000578892,;ICAM2,intron_variant,,ENST00000583366,;ICAM2,intron_variant,,ENST00000449662,;ICAM2,intron_variant,,ENST00000412356,;C17orf72,downstream_gene_variant,,ENST00000579184,;C17orf72,downstream_gene_variant,,ENST00000539996,;C17orf72,downstream_gene_variant,,ENST00000583891,;C17orf72,downstream_gene_variant,,ENST00000580752,;C17orf72,downstream_gene_variant,,ENST00000425164,;C17orf72,downstream_gene_variant,,ENST00000582540,;C17orf72,downstream_gene_variant,,ENST00000577953,;RP11-214C8.2,upstream_gene_variant,,ENST00000580942,;ICAM2,non_coding_transcript_exon_variant,,ENST00000584403,;ICAM2,intron_variant,,ENST00000581417,;C17orf72,non_coding_transcript_exon_variant,,ENST00000225760,;ICAM2,intron_variant,,ENST00000583684,;ICAM2,downstream_gene_variant,,ENST00000580389,;ICAM2,downstream_gene_variant,,ENST00000580011,;C17orf72,downstream_gene_variant,,ENST00000582530,;ICAM2,downstream_gene_variant,,ENST00000583186,;C17orf72,downstream_gene_variant,,ENST00000579222,;	.	10	11	SUCCESS
SOX12	6666	.	GRCh37	20	309769	309769	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	24	67	0	ENST00000342665.2:c.*2253A>C			ENST00000342665	NM_006943.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12995.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAACAAG	NONE	.	.	.	.	.	ENSP00000347646	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342665	Transcript	.	.	ENSG00000177732	11198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX12_HUMAN	SOX12	HGNC	.	.	UPI0000167B9D	SNV	SOX12,3_prime_UTR_variant,,ENST00000342665,;SOX12,downstream_gene_variant,,ENST00000544632,;RP5-1103G7.4,intron_variant,,ENST00000442637,;RP5-1103G7.4,upstream_gene_variant,,ENST00000414676,;	3531	67	110	SUCCESS
SCAND1	51282	.	GRCh37	20	34542697	34542697	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	75	0				ENST00000305978	NM_033630.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13269.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCCCCTTC	NONE	.	.	.	.	.	ENSP00000363103	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373991	Transcript	.	.	ENSG00000171222	10566	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCND1_HUMAN	SCAND1	HGNC	Q9NZG6_HUMAN,H0UIA5_HUMAN	.	UPI0000000C19	SNV	SCAND1,5_prime_UTR_variant,,ENST00000373991,;PHF20,downstream_gene_variant,,ENST00000439301,;PHF20,downstream_gene_variant,,ENST00000374012,;SCAND1,upstream_gene_variant,,ENST00000305978,;	581	75	63	SUCCESS
HSCB	150274	.	GRCh37	22	29153457	29153457	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	12	0	ENST00000216027.3:c.*300A>C			ENST00000216027	NM_172002.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13845.1	.	MUTECT|VARSCANS	.	AACAGAGTGAG	NONE	.	.	.	.	.	ENSP00000216027	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216027	Transcript	.	.	ENSG00000100209	28913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HSC20_HUMAN	HSCB	HGNC	.	.	UPI000013C6B6	SNV	HSCB,3_prime_UTR_variant,,ENST00000398941,;HSCB,3_prime_UTR_variant,,ENST00000216027,;HSCB,non_coding_transcript_exon_variant,,ENST00000495977,;HSCB,downstream_gene_variant,,ENST00000483861,;HSCB,3_prime_UTR_variant,,ENST00000450178,;HSCB,downstream_gene_variant,,ENST00000420442,;	1073	12	16	SUCCESS
ENTHD1	150350	.	GRCh37	22	40139627	40139627	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	53	0	ENST00000325157.6:c.*57C>T			ENST00000325157	NM_152512.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13998.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAACGTAAGT	NONE	.	.	.	.	.	ENSP00000317431	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000325157	Transcript	.	.	ENSG00000176177	26352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTD1_HUMAN	ENTHD1	HGNC	.	.	UPI00000741D2	SNV	ENTHD1,3_prime_UTR_variant,,ENST00000325157,;	2132	53	48	SUCCESS
RAP2B	5912	.	GRCh37	3	152881782	152881782	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	52	113	0	ENST00000323534.2:c.*748A>G			ENST00000323534	NM_002886.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGATATTT	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,3_prime_UTR_variant,,ENST00000323534,;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	1754	113	146	SUCCESS
KNG1	3827	.	GRCh37	3	186461619	186461621	+	downstream_gene_variant	3'Flank	DEL	TCT	TCT	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	TCT	TCT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	60	0				ENST00000265023	NM_001102416.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43183.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	ACCACCTCTGCCAG	NONE	.	211	.	.	.	ENSP00000265023	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265023	Transcript	.	.	ENSG00000113889	6383	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KNG1_HUMAN	KNG1	HGNC	.	.	UPI000013D5AC	substitution	KNG1,3_prime_UTR_variant,,ENST00000287611,;KNG1,downstream_gene_variant,,ENST00000265023,;KNG1,downstream_gene_variant,,ENST00000447445,;RP11-573D15.8,non_coding_transcript_exon_variant,,ENST00000596632,;RP11-573D15.8,non_coding_transcript_exon_variant,,ENST00000354642,;RP11-573D15.8,non_coding_transcript_exon_variant,,ENST00000596329,;RP11-573D15.8,non_coding_transcript_exon_variant,,ENST00000599314,;RP11-573D15.8,non_coding_transcript_exon_variant,,ENST00000609726,;RP11-573D15.8,non_coding_transcript_exon_variant,,ENST00000609652,;	.	60	50	SUCCESS
PCDHB12	56124	.	GRCh37	5	140591580	140591580	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	277	42	253	0	ENST00000239450.2:c.*713T>C			ENST00000239450	NM_018932.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4254.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATCTATG	NONE	.	.	.	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,3_prime_UTR_variant,,ENST00000239450,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	3290	253	319	SUCCESS
ZNF184	7738	.	GRCh37	6	27419013	27419013	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	127	5	111	0	ENST00000211936.6:c.*69G>C			ENST00000211936	NM_007149.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4624.1	.	MUTECT|MUSE	.	TGATTCTTCAG	NONE	.	.	.	.	.	ENSP00000211936	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000211936	Transcript	.	.	ENSG00000096654	12975	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN184_HUMAN	ZNF184	HGNC	.	.	UPI000013C311	SNV	ZNF184,3_prime_UTR_variant,,ENST00000211936,;ZNF184,3_prime_UTR_variant,,ENST00000377419,;	2610	111	132	SUCCESS
FAM214B	80256	.	GRCh37	9	35104551	35104551	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	48	0	ENST00000322813.5:c.*667T>A			ENST00000322813	NM_025182.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6578.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCACACACAC	NONE	.	.	.	.	.	ENSP00000367823	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000378561	Transcript	.	.	ENSG00000005238	25666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F214B_HUMAN	FAM214B	HGNC	.	.	UPI0000169E3E	SNV	FAM214B,3_prime_UTR_variant,,ENST00000378554,;FAM214B,3_prime_UTR_variant,,ENST00000378566,;FAM214B,3_prime_UTR_variant,,ENST00000603301,;FAM214B,3_prime_UTR_variant,,ENST00000605244,;FAM214B,3_prime_UTR_variant,,ENST00000322813,;FAM214B,3_prime_UTR_variant,,ENST00000488109,;FAM214B,3_prime_UTR_variant,,ENST00000378557,;FAM214B,3_prime_UTR_variant,,ENST00000378561,;STOML2,upstream_gene_variant,,ENST00000452248,;STOML2,upstream_gene_variant,,ENST00000356493,;FAM214B,downstream_gene_variant,,ENST00000605104,;STOML2,upstream_gene_variant,,ENST00000487490,;FAM214B,downstream_gene_variant,,ENST00000605392,;STOML2,upstream_gene_variant,,ENST00000488050,;	5340	48	40	SUCCESS
TCEANC	170082	.	GRCh37	X	13681980	13681980	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	150	73	269	0	ENST00000380600.1:c.*297C>A			ENST00000380600				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS48081.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACACCATTG	NONE	.	.	.	.	.	ENSP00000313886	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314720	Transcript	.	.	ENSG00000176896	28277	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEANC_HUMAN	TCEANC	HGNC	.	.	UPI0001596C51	SNV	TCEANC,3_prime_UTR_variant,,ENST00000380600,;TCEANC,3_prime_UTR_variant,,ENST00000314720,;TCEANC,downstream_gene_variant,,ENST00000545566,;TCEANC,downstream_gene_variant,,ENST00000544987,;TCEANC,non_coding_transcript_exon_variant,,ENST00000490617,;TCEANC,upstream_gene_variant,,ENST00000463321,;TCEANC,intron_variant,,ENST00000467590,;	1688	270	223	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910573	144910573	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	136	83	222	0				ENST00000370490				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14681.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCTTAAAT	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1646	222	219	SUCCESS
GJB1	2705	.	GRCh37	X	70445066	70445069	+	downstream_gene_variant	3'Flank	DEL	TGTT	TGTT	-	novel	.	TCGA-BD-A3EP-01	TCGA-BD-A3EP-11	TGTT	TGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	59	37	107	0				ENST00000361726	NM_000166.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14408.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGTGTGTTTGTCA	NONE	.	.	.	.	.	ENSP00000363134	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374022	Transcript	.	.	ENSG00000169562	4283	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXB1_HUMAN	GJB1	HGNC	C9JWU8_HUMAN	.	UPI0000001C7E	deletion	GJB1,3_prime_UTR_variant,,ENST00000374022,;GJB1,downstream_gene_variant,,ENST00000447581,;GJB1,downstream_gene_variant,,ENST00000361726,;GJB1,downstream_gene_variant,,ENST00000374029,;	1604-1607	107	96	SUCCESS
HBD	3045	.	GRCh37	11	5254093	5254093	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	31	68	0	ENST00000380299.3:c.*101T>C			ENST00000380299	NM_000519.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31376.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGCAGAAGC	NONE	.	.	.	.	.	ENSP00000369654	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380299	Transcript	.	.	ENSG00000223609	4829	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBD_HUMAN	HBD	HGNC	A0N071_HUMAN,Q5XTR9_HUMAN,E9PEW8_HUMAN,D1MGQ0_HUMAN,D1MGP8_HUMAN	.	UPI0000161DC2	SNV	HBD,3_prime_UTR_variant,,ENST00000380299,;HBD,intron_variant,,ENST00000292901,;HBD,downstream_gene_variant,,ENST00000429817,;HBB,upstream_gene_variant,,ENST00000380315,;HBD,downstream_gene_variant,,ENST00000417377,;	760	68	81	SUCCESS
MYO1H	283446	.	GRCh37	12	109885205	109885205	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs549217396	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	10	0	ENST00000310903.5:c.*218A>G			ENST00000310903				0	.	G:0.0061	.	G:0	.	G	.	protein_coding	YES	CCDS53826.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGAAGCAGA	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000439182	G:0	32/32	.	.	.	.	.	.	.	.	rs549217396	32/32	PASS	ENST00000310903	Transcript	.	G:0.0016	ENSG00000174527	13879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,3_prime_UTR_variant,,ENST00000431443,;MYO1H,3_prime_UTR_variant,,ENST00000310903,;KCTD10,downstream_gene_variant,,ENST00000542954,;KCTD10,downstream_gene_variant,,ENST00000228495,;KCTD10,downstream_gene_variant,,ENST00000535546,;KCTD10,downstream_gene_variant,,ENST00000540355,;KCTD10,downstream_gene_variant,,ENST00000540089,;KCTD10,downstream_gene_variant,,ENST00000540411,;KCTD10,downstream_gene_variant,,ENST00000424763,;RP11-256L11.3,non_coding_transcript_exon_variant,,ENST00000539987,;KCTD10,downstream_gene_variant,,ENST00000538161,;MYO1H,non_coding_transcript_exon_variant,,ENST00000542268,;MYO1H,intron_variant,,ENST00000543960,;KCTD10,downstream_gene_variant,,ENST00000540402,;KCTD10,downstream_gene_variant,,ENST00000537165,;KCTD10,downstream_gene_variant,,ENST00000440541,;MYO1H,downstream_gene_variant,,ENST00000457826,;KCTD10,downstream_gene_variant,,ENST00000545759,;	3393	10	15	SUCCESS
KCNJ2	3759	.	GRCh37	17	68175497	68175497	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	43	0	ENST00000243457.3:c.*3033T>G			ENST00000243457	NM_000891.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATATTTTTG	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	4700	43	57	SUCCESS
LCE2D	353141	.	GRCh37	1	152636942	152636942	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	96	0	ENST00000368784.1:c.*28G>T			ENST00000368784	NM_178430.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTGAATGG	NONE	.	.	.	.	.	ENSP00000357773	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368784	Transcript	.	.	ENSG00000187223	16518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE2D_HUMAN	LCE2D	HGNC	.	.	UPI00001927D4	SNV	LCE2D,3_prime_UTR_variant,,ENST00000368784,;	416	96	66	SUCCESS
PYGO2	90780	.	GRCh37	1	154931211	154931211	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	90	0	ENST00000368457.2:c.*44T>A			ENST00000368457	NM_138300.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1075.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGAGCAGG	NONE	.	.	.	.	.	ENSP00000357442	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368457	Transcript	.	.	ENSG00000163348	30257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYGO2_HUMAN	PYGO2	HGNC	Q5T171_HUMAN,Q5T170_HUMAN	.	UPI00000015CD	SNV	PYGO2,3_prime_UTR_variant,,ENST00000368457,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000448116,;SHC1,downstream_gene_variant,,ENST00000368445,;PBXIP1,upstream_gene_variant,,ENST00000368460,;PBXIP1,upstream_gene_variant,,ENST00000539880,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000368453,;PBXIP1,upstream_gene_variant,,ENST00000368465,;PYGO2,downstream_gene_variant,,ENST00000368456,;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000368463,;SHC1,downstream_gene_variant,,ENST00000368450,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000498553,;PBXIP1,upstream_gene_variant,,ENST00000493133,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	1437	90	20	SUCCESS
CRIM1	51232	.	GRCh37	2	36775881	36775881	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	18	80	0	ENST00000280527.2:c.*37G>A			ENST00000280527	NM_016441.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1783.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAAGACGAC	NONE	.	.	.	.	.	ENSP00000280527	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000280527	Transcript	.	.	ENSG00000150938	2359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIM1_HUMAN	CRIM1	HGNC	Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN	.	UPI000004C628	SNV	CRIM1,3_prime_UTR_variant,,ENST00000280527,;AC007401.2,intron_variant,,ENST00000406220,;FEZ2,downstream_gene_variant,,ENST00000305852,;FEZ2,downstream_gene_variant,,ENST00000441005,;FEZ2,downstream_gene_variant,,ENST00000379245,;FEZ2,downstream_gene_variant,,ENST00000405912,;FEZ2,downstream_gene_variant,,ENST00000487919,;FEZ2,downstream_gene_variant,,ENST00000487282,;FEZ2,downstream_gene_variant,,ENST00000432869,;FEZ2,downstream_gene_variant,,ENST00000414288,;FEZ2,downstream_gene_variant,,ENST00000451623,;FEZ2,downstream_gene_variant,,ENST00000475815,;FEZ2,downstream_gene_variant,,ENST00000413938,;	3515	80	71	SUCCESS
FUT9	10690	.	GRCh37	6	96661651	96661651	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	32	34	0	ENST00000302103.5:c.*9540A>G			ENST00000302103	NM_006581.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAAACATGA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	10946	34	61	SUCCESS
ZNF92	168374	.	GRCh37	7	64864874	64864874	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1214656654	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000328747.7:c.*86A>G			ENST00000328747	NM_152626.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34646.1	.	MUTECT|MUSE	.	TGACAAGGACT	NONE	.	.	.	.	.	ENSP00000332595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328747	Transcript	.	.	ENSG00000146757	13168	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNF92_HUMAN	ZNF92	HGNC	C9IZS8_HUMAN	.	UPI0000073CE6	SNV	ZNF92,3_prime_UTR_variant,,ENST00000450302,;ZNF92,3_prime_UTR_variant,,ENST00000431504,;ZNF92,3_prime_UTR_variant,,ENST00000357512,;ZNF92,3_prime_UTR_variant,,ENST00000328747,;	2046	11	12	SUCCESS
ANGPT2	285	.	GRCh37	8	6357499	6357499	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	47	0	ENST00000325203.5:c.*3123T>C			ENST00000325203				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5958.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCAAGAAAT	NONE	.	.	.	.	.	ENSP00000314897	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000325203	Transcript	.	.	ENSG00000091879	485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANGP2_HUMAN	ANGPT2	HGNC	Q9H4C0_HUMAN	.	UPI0000034767	SNV	ANGPT2,3_prime_UTR_variant,,ENST00000415216,;ANGPT2,3_prime_UTR_variant,,ENST00000325203,;MCPH1,intron_variant,,ENST00000344683,;ANGPT2,downstream_gene_variant,,ENST00000338312,;MCPH1,intron_variant,,ENST00000519221,;MCPH1,intron_variant,,ENST00000521129,;	5089	47	22	SUCCESS
TERF1	7013	.	GRCh37	8	73958446	73958446	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	79	124	0	ENST00000276603.5:c.*74T>G			ENST00000276603	NM_017489.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6211.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCATTGATG	NONE	.	.	.	.	.	ENSP00000276603	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000276603	Transcript	.	.	ENSG00000147601	11728	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TERF1_HUMAN	TERF1	HGNC	.	.	UPI000013DAD5	SNV	TERF1,3_prime_UTR_variant,,ENST00000276602,;TERF1,3_prime_UTR_variant,,ENST00000276603,;RP11-531A24.7,upstream_gene_variant,,ENST00000607665,;TERF1,non_coding_transcript_exon_variant,,ENST00000518961,;	1417	124	173	SUCCESS
PBX3	5090	.	GRCh37	9	128728271	128728271	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-BW-A5NO-01	TCGA-BW-A5NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	107	0	ENST00000373489.5:c.*69A>G			ENST00000373489	NM_006195.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6865.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGAAAGCG	NONE	.	.	.	.	.	ENSP00000362588	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000373489	Transcript	.	.	ENSG00000167081	8634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PBX3_HUMAN	PBX3	HGNC	U3KQA2_HUMAN	.	UPI00001313B3	SNV	PBX3,3_prime_UTR_variant,,ENST00000342287,;PBX3,3_prime_UTR_variant,,ENST00000447726,;PBX3,3_prime_UTR_variant,,ENST00000373487,;PBX3,3_prime_UTR_variant,,ENST00000373489,;PBX3,downstream_gene_variant,,ENST00000373483,;PBX3,downstream_gene_variant,,ENST00000538998,;PBX3,downstream_gene_variant,,ENST00000373482,;PBX3,downstream_gene_variant,,ENST00000373492,;	1390	107	79	SUCCESS
CHORDC1	26973	.	GRCh37	11	89935537	89935537	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1211319143	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	72	0	ENST00000320585.6:c.*36G>A			ENST00000320585	NM_012124.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8289.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCGGAAA	NONE	.	.	.	.	.	ENSP00000319255	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000320585	Transcript	.	.	ENSG00000110172	14525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHRD1_HUMAN	CHORDC1	HGNC	E9PHZ2_HUMAN	.	UPI000013F1A2	SNV	CHORDC1,3_prime_UTR_variant,,ENST00000457199,;CHORDC1,3_prime_UTR_variant,,ENST00000529726,;CHORDC1,3_prime_UTR_variant,,ENST00000529987,;CHORDC1,3_prime_UTR_variant,,ENST00000320585,;CHORDC1,non_coding_transcript_exon_variant,,ENST00000533724,;CHORDC1,downstream_gene_variant,,ENST00000525317,;	1445	72	45	SUCCESS
MUC19	283463	.	GRCh37	12	40959594	40959594	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	33	0	ENST00000454784.4:c.*7403T>C			ENST00000454784				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GATACTGTGGT	NONE	.	.	.	.	.	ENSP00000476404	.	79/84	.	.	.	.	.	.	.	.	.	79/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,downstream_gene_variant,,ENST00000484665,;MUC19,upstream_gene_variant,,ENST00000427572,;MUC19,3_prime_UTR_variant,,ENST00000380816,;MUC19,upstream_gene_variant,,ENST00000546043,;	19029	33	27	SUCCESS
ABHD4	63874	.	GRCh37	14	23079868	23079868	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs773198840	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	60	0	ENST00000428304.2:c.*14G>C			ENST00000428304	NM_022060.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9572.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAGAGGAA	NONE	.	.	.	.	.	ENSP00000414558	.	7/7	.	.	.	.	.	.	.	.	rs773198840	7/7	PASS	ENST00000428304	Transcript	.	.	ENSG00000100439	20154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ABHD4_HUMAN	ABHD4	HGNC	F5H6T0_HUMAN,B4DW04_HUMAN	.	UPI00000493BB	SNV	ABHD4,3_prime_UTR_variant,,ENST00000428304,;ABHD4,downstream_gene_variant,,ENST00000216327,;ABHD4,upstream_gene_variant,,ENST00000489928,;ABHD4,downstream_gene_variant,,ENST00000544562,;ABHD4,3_prime_UTR_variant,,ENST00000418446,;ABHD4,downstream_gene_variant,,ENST00000541962,;	1113	60	39	SUCCESS
PARP16	54956	.	GRCh37	15	65551593	65551593	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	19	0	ENST00000261888.6:c.*152C>T			ENST00000261888	NM_017851.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10204.1	.	MUTECT|MUSE	.	CAAAGGCAATG	NONE	.	.	.	.	.	ENSP00000261888	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000261888	Transcript	.	.	ENSG00000138617	26040	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAR16_HUMAN	PARP16	HGNC	.	.	UPI000035079D	SNV	PARP16,3_prime_UTR_variant,,ENST00000261888,;PARP16,3_prime_UTR_variant,,ENST00000444347,;PARP16,downstream_gene_variant,,ENST00000560149,;PARP16,intron_variant,,ENST00000559805,;	1570	19	28	SUCCESS
ROGDI	79641	.	GRCh37	16	4847421	4847421	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs370088479	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	20	78	1	ENST00000322048.7:c.*40G>A			ENST00000322048	NM_024589.2			0	T:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS10523.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGACGGGGC	NONE	byCluster	.	.	.	T:0	ENSP00000322832	.	11/11	.	.	.	.	.	.	.	.	rs370088479	11/11	PASS	ENST00000322048	Transcript	.	.	ENSG00000067836	29478	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROGDI_HUMAN	ROGDI	HGNC	D3DUE5_HUMAN	.	UPI0000037B8E	SNV	ROGDI,missense_variant,p.Arg212His,ENST00000586504,;ROGDI,3_prime_UTR_variant,,ENST00000322048,;ROGDI,3_prime_UTR_variant,,ENST00000592019,;SMIM22,downstream_gene_variant,,ENST00000589327,;ROGDI,downstream_gene_variant,,ENST00000586153,;SMIM22,downstream_gene_variant,,ENST00000586005,;ROGDI,downstream_gene_variant,,ENST00000587711,;SMIM22,downstream_gene_variant,,ENST00000588606,;ROGDI,downstream_gene_variant,,ENST00000591392,;SMIM22,downstream_gene_variant,,ENST00000586440,;SMIM22,downstream_gene_variant,,ENST00000591870,;SMIM22,downstream_gene_variant,,ENST00000589721,;SMIM22,downstream_gene_variant,,ENST00000588500,;RP11-127I20.5,upstream_gene_variant,,ENST00000592465,;ROGDI,downstream_gene_variant,,ENST00000586336,;ROGDI,3_prime_UTR_variant,,ENST00000587377,;ROGDI,3_prime_UTR_variant,,ENST00000587843,;ROGDI,3_prime_UTR_variant,,ENST00000588201,;ROGDI,non_coding_transcript_exon_variant,,ENST00000591292,;SMIM22,downstream_gene_variant,,ENST00000591004,;SMIM22,downstream_gene_variant,,ENST00000588894,;ROGDI,downstream_gene_variant,,ENST00000589543,;ROGDI,downstream_gene_variant,,ENST00000592112,;ROGDI,downstream_gene_variant,,ENST00000585871,;ROGDI,downstream_gene_variant,,ENST00000590198,;ROGDI,downstream_gene_variant,,ENST00000585653,;	1283	79	24	SUCCESS
MRPL30	51263	.	GRCh37	2	99812269	99812269	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1159491632	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	15	26	0	ENST00000338148.3:c.*101G>A			ENST00000338148	NM_145212.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2041.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCGGGCAC	NONE	.	.	.	.	.	ENSP00000338057	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000338148	Transcript	.	.	ENSG00000185414	14036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM30_HUMAN	MRPL30	HGNC	.	.	UPI000007110A	SNV	MRPL30,3_prime_UTR_variant,,ENST00000338148,;C2orf15,3_prime_UTR_variant,,ENST00000512183,;MRPL30,downstream_gene_variant,,ENST00000409145,;MRPL30,downstream_gene_variant,,ENST00000410042,;MRPL30,non_coding_transcript_exon_variant,,ENST00000465432,;MRPL30,downstream_gene_variant,,ENST00000473743,;MRPL30,3_prime_UTR_variant,,ENST00000409841,;C2orf15,intron_variant,,ENST00000424491,;	785	26	27	SUCCESS
NPY2R	4887	.	GRCh37	4	156136558	156136558	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	56	0	ENST00000329476.3:c.*321A>T			ENST00000329476	NM_000910.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3791.1	.	MUTECT|MUSE	.	AAAGCATTGCT	NONE	.	.	.	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,3_prime_UTR_variant,,ENST00000506608,;NPY2R,3_prime_UTR_variant,,ENST00000329476,;	1956	56	32	SUCCESS
CCDC112	153733	.	GRCh37	5	114603448	114603448	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	31	0	ENST00000395557.4:c.*125G>T			ENST00000395557	NM_152549.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34213.1	.	MUTECT|MUSE	.	CAATTCACAAT	NONE	.	.	.	.	.	ENSP00000368931	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000379611	Transcript	.	.	ENSG00000164221	28599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC112_HUMAN	CCDC112	HGNC	.	.	UPI000020C43F	SNV	CCDC112,3_prime_UTR_variant,,ENST00000512261,;CCDC112,3_prime_UTR_variant,,ENST00000506442,;CCDC112,3_prime_UTR_variant,,ENST00000395557,;CCDC112,3_prime_UTR_variant,,ENST00000379611,;PGGT1B,upstream_gene_variant,,ENST00000419445,;PGGT1B,upstream_gene_variant,,ENST00000379615,;CTC-428G20.6,downstream_gene_variant,,ENST00000606615,;CCDC112,downstream_gene_variant,,ENST00000502975,;PGGT1B,upstream_gene_variant,,ENST00000503638,;CTC-428G20.1,upstream_gene_variant,,ENST00000497612,;	2003	31	34	SUCCESS
CCDC112	153733	.	GRCh37	5	114603460	114603460	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	11	42	0	ENST00000395557.4:c.*113G>T			ENST00000395557	NM_152549.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34213.1	.	MUTECT|MUSE	.	TAGCACAATAA	NONE	.	.	.	.	.	ENSP00000368931	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000379611	Transcript	.	.	ENSG00000164221	28599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC112_HUMAN	CCDC112	HGNC	.	.	UPI000020C43F	SNV	CCDC112,3_prime_UTR_variant,,ENST00000512261,;CCDC112,3_prime_UTR_variant,,ENST00000506442,;CCDC112,3_prime_UTR_variant,,ENST00000395557,;CCDC112,3_prime_UTR_variant,,ENST00000379611,;PGGT1B,upstream_gene_variant,,ENST00000419445,;PGGT1B,upstream_gene_variant,,ENST00000379615,;CTC-428G20.6,downstream_gene_variant,,ENST00000606615,;CCDC112,downstream_gene_variant,,ENST00000502975,;PGGT1B,upstream_gene_variant,,ENST00000503638,;CTC-428G20.1,upstream_gene_variant,,ENST00000497612,;	1991	42	48	SUCCESS
HSP90AB1	3326	.	GRCh37	6	44221514	44221514	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1357106752	.	TCGA-BW-A5NP-01	TCGA-BW-A5NP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	19	128	0	ENST00000353801.3:c.*179T>C			ENST00000353801	NM_001271969.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4909.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTACTCT	NONE	.	.	.	.	.	ENSP00000360609	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000371554	Transcript	.	.	ENSG00000096384	5258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HS90B_HUMAN	HSP90AB1	HGNC	A8K3W9_HUMAN	.	UPI00001411EF	SNV	HSP90AB1,3_prime_UTR_variant,,ENST00000371646,;HSP90AB1,3_prime_UTR_variant,,ENST00000353801,;HSP90AB1,3_prime_UTR_variant,,ENST00000371554,;SLC35B2,downstream_gene_variant,,ENST00000538577,;SLC35B2,downstream_gene_variant,,ENST00000537814,;SLC35B2,downstream_gene_variant,,ENST00000393810,;NFKBIE,downstream_gene_variant,,ENST00000275015,;NFKBIE,downstream_gene_variant,,ENST00000443607,;SLC35B2,downstream_gene_variant,,ENST00000393812,;MIR4647,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	2568	128	164	SUCCESS
KLLN	100144748	.	GRCh37	10	89621495	89621495	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	14	0	ENST00000445946.3:c.*213T>G			ENST00000445946	NM_001126049.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44454.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AGCTCAGGGGT	NONE	.	.	.	.	.	ENSP00000392204	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000445946	Transcript	1	.	ENSG00000227268	37212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KILIN_HUMAN	KLLN	HGNC	.	.	UPI0000197BAB	SNV	KLLN,3_prime_UTR_variant,,ENST00000445946,;PTEN,upstream_gene_variant,,ENST00000371953,;PTEN,upstream_gene_variant,,ENST00000487939,;PTEN,upstream_gene_variant,,ENST00000462694,;	1700	14	13	SUCCESS
PHB2	11331	.	GRCh37	12	7074826	7074826	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs966144550	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	51	0	ENST00000535923.1:c.*22C>T			ENST00000535923	NM_001144831.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53741.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGGGTGGAG	NONE	.	.	.	.	.	ENSP00000441875	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000535923	Transcript	.	.	ENSG00000215021	30306	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHB2_HUMAN	PHB2	HGNC	Q9BXV3_HUMAN	.	UPI00000292BE	SNV	PHB2,3_prime_UTR_variant,,ENST00000535923,;PHB2,3_prime_UTR_variant,,ENST00000546111,;PHB2,3_prime_UTR_variant,,ENST00000542912,;PTPN6,downstream_gene_variant,,ENST00000456013,;PTPN6,downstream_gene_variant,,ENST00000447931,;PHB2,downstream_gene_variant,,ENST00000545167,;PTPN6,downstream_gene_variant,,ENST00000318974,;PHB2,downstream_gene_variant,,ENST00000399433,;PHB2,downstream_gene_variant,,ENST00000536316,;PHB2,downstream_gene_variant,,ENST00000440277,;PHB2,downstream_gene_variant,,ENST00000545555,;PTPN6,downstream_gene_variant,,ENST00000399448,;SCARNA12,downstream_gene_variant,,ENST00000459155,;U47924.27,downstream_gene_variant,,ENST00000537269,;MIR200C,downstream_gene_variant,,ENST00000384980,;MIR141,downstream_gene_variant,,ENST00000384975,;U47924.29,downstream_gene_variant,,ENST00000606539,;EMG1,intron_variant,,ENST00000607161,;PTPN6,downstream_gene_variant,,ENST00000537533,;PHB2,downstream_gene_variant,,ENST00000544134,;PTPN6,downstream_gene_variant,,ENST00000539029,;PHB2,non_coding_transcript_exon_variant,,ENST00000537646,;PHB2,non_coding_transcript_exon_variant,,ENST00000543465,;PHB2,downstream_gene_variant,,ENST00000546217,;PHB2,downstream_gene_variant,,ENST00000544888,;PHB2,downstream_gene_variant,,ENST00000542294,;PTPN6,downstream_gene_variant,,ENST00000416215,;	1204	51	44	SUCCESS
EDDM3A	10876	.	GRCh37	14	21216504	21216504	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	73	0	ENST00000326842.2:c.*321C>T			ENST00000326842	NM_006683.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9556.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACCCTCCTT	NONE	.	.	.	.	.	ENSP00000315098	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326842	Transcript	.	.	ENSG00000181562	16978	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP3A_HUMAN	EDDM3A	HGNC	.	.	UPI000003EE00	SNV	EDDM3A,3_prime_UTR_variant,,ENST00000326842,;	892	73	70	SUCCESS
ABHD2	11057	.	GRCh37	15	89744850	89744850	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	132	0	ENST00000352732.5:c.*6196T>G			ENST00000352732	NM_152924.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10348.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTCACAC	NONE	.	.	.	.	.	ENSP00000268129	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000352732	Transcript	.	.	ENSG00000140526	18717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHD2_HUMAN	ABHD2	HGNC	H3BUZ6_HUMAN,H3BN19_HUMAN,H3BMT2_HUMAN	.	UPI000012E24E	SNV	ABHD2,3_prime_UTR_variant,,ENST00000352732,;ABHD2,3_prime_UTR_variant,,ENST00000355100,;RP11-326A19.5,non_coding_transcript_exon_variant,,ENST00000563131,;	7994	133	88	SUCCESS
PSMB4	5692	.	GRCh37	1	151374407	151374407	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	25	0	ENST00000290541.6:c.*102A>C			ENST00000290541	NM_002796.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS996.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAAAATG	NONE	.	.	.	.	.	ENSP00000290541	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000290541	Transcript	.	.	ENSG00000159377	9541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB4_HUMAN	PSMB4	HGNC	.	.	UPI0000167B17	SNV	PSMB4,3_prime_UTR_variant,,ENST00000290541,;POGZ,downstream_gene_variant,,ENST00000271715,;POGZ,downstream_gene_variant,,ENST00000529669,;POGZ,downstream_gene_variant,,ENST00000392723,;POGZ,downstream_gene_variant,,ENST00000409503,;POGZ,downstream_gene_variant,,ENST00000361398,;POGZ,downstream_gene_variant,,ENST00000531094,;POGZ,downstream_gene_variant,,ENST00000540984,;POGZ,downstream_gene_variant,,ENST00000368863,;POGZ,downstream_gene_variant,,ENST00000491586,;PSMB4,non_coding_transcript_exon_variant,,ENST00000466425,;PSMB4,non_coding_transcript_exon_variant,,ENST00000493673,;PSMB4,non_coding_transcript_exon_variant,,ENST00000474100,;PSMB4,downstream_gene_variant,,ENST00000495288,;POGZ,downstream_gene_variant,,ENST00000497787,;PSMB4,downstream_gene_variant,,ENST00000476467,;PSMB4,downstream_gene_variant,,ENST00000495805,;POGZ,downstream_gene_variant,,ENST00000358476,;	951	25	21	SUCCESS
TOMM40L	84134	.	GRCh37	1	161199308	161199308	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	20	0	ENST00000367987.1:c.*423T>C			ENST00000367987				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1227.1	.	MUTECT|MUSE	.	TTTGGTCTCAG	NONE	.	.	.	.	.	ENSP00000356967	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367988	Transcript	.	.	ENSG00000158882	25756	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM40L_HUMAN	TOMM40L	HGNC	.	.	UPI000006F917	SNV	TOMM40L,3_prime_UTR_variant,,ENST00000367987,;TOMM40L,3_prime_UTR_variant,,ENST00000367988,;NR1I3,downstream_gene_variant,,ENST00000511676,;NR1I3,downstream_gene_variant,,ENST00000512372,;NR1I3,downstream_gene_variant,,ENST00000367985,;NR1I3,downstream_gene_variant,,ENST00000367981,;NR1I3,downstream_gene_variant,,ENST00000367984,;TOMM40L,downstream_gene_variant,,ENST00000545897,;NR1I3,downstream_gene_variant,,ENST00000515621,;NR1I3,downstream_gene_variant,,ENST00000506209,;NR1I3,downstream_gene_variant,,ENST00000367979,;NR1I3,downstream_gene_variant,,ENST00000508740,;NR1I3,downstream_gene_variant,,ENST00000502985,;NR1I3,downstream_gene_variant,,ENST00000367983,;NR1I3,downstream_gene_variant,,ENST00000511944,;NR1I3,downstream_gene_variant,,ENST00000442691,;NR1I3,downstream_gene_variant,,ENST00000504010,;NR1I3,downstream_gene_variant,,ENST00000412844,;NR1I3,downstream_gene_variant,,ENST00000428574,;NR1I3,downstream_gene_variant,,ENST00000367982,;NR1I3,downstream_gene_variant,,ENST00000367980,;NR1I3,downstream_gene_variant,,ENST00000511748,;NR1I3,downstream_gene_variant,,ENST00000437437,;NR1I3,downstream_gene_variant,,ENST00000515452,;NR1I3,downstream_gene_variant,,ENST00000505005,;NR1I3,downstream_gene_variant,,ENST00000508387,;MIR5187,downstream_gene_variant,,ENST00000583479,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000474486,;NR1I3,downstream_gene_variant,,ENST00000464422,;TOMM40L,downstream_gene_variant,,ENST00000470426,;NR1I3,downstream_gene_variant,,ENST00000503547,;TOMM40L,downstream_gene_variant,,ENST00000468803,;NR1I3,downstream_gene_variant,,ENST00000488651,;NR1I3,downstream_gene_variant,,ENST00000479324,;TOMM40L,downstream_gene_variant,,ENST00000492482,;TOMM40L,downstream_gene_variant,,ENST00000465512,;TOMM40L,downstream_gene_variant,,ENST00000475793,;NR1I3,downstream_gene_variant,,ENST00000505944,;NR1I3,downstream_gene_variant,,ENST00000510951,;NR1I3,downstream_gene_variant,,ENST00000512340,;NR1I3,downstream_gene_variant,,ENST00000506018,;NR1I3,downstream_gene_variant,,ENST00000502848,;NR1I3,downstream_gene_variant,,ENST00000507215,;	1619	20	28	SUCCESS
FCGR2A	2212	.	GRCh37	1	161488116	161488116	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs192793251	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	31	0	ENST00000271450.6:c.*178G>A			ENST00000271450	NM_021642.3			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS44264.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCACGGGGTC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000271450	A:0.002	7/7	.	.	.	.	.	.	.	.	rs192793251	7/7	PASS	ENST00000271450	Transcript	.	A:0.0006	ENSG00000143226	3616	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FCG2A_HUMAN	FCGR2A	HGNC	F5H137_HUMAN,F5GY95_HUMAN	.	UPI000013D8DE	SNV	FCGR2A,3_prime_UTR_variant,,ENST00000367972,;FCGR2A,3_prime_UTR_variant,,ENST00000271450,;FCGR2A,intron_variant,,ENST00000459885,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000461298,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000471026,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000486608,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,intron_variant,,ENST00000491841,;FCGR2A,3_prime_UTR_variant,,ENST00000483665,;FCGR2A,intron_variant,,ENST00000467525,;	1170	31	24	SUCCESS
KRTAP25-1	100131902	.	GRCh37	21	31661480	31661480	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	44	0	ENST00000416044.1:c.*20G>T			ENST00000416044	NM_001128598.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46640.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCAAGAC	NONE	.	.	.	.	.	ENSP00000398619	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000416044	Transcript	.	.	ENSG00000232263	34003	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR251_HUMAN	KRTAP25-1	HGNC	.	.	UPI00005C50FC	SNV	KRTAP25-1,3_prime_UTR_variant,,ENST00000416044,;	353	44	46	SUCCESS
MTPN	136319	.	GRCh37	7	135612279	135612279	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	29	0	ENST00000393085.3:c.*2395C>A			ENST00000393085	NM_145808.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCGCTAAT	NONE	.	.	.	.	.	ENSP00000396652	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000416501	Transcript	.	.	ENSG00000236338	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC015987.2	Clone_based_ensembl_gene	Q9H388_HUMAN	.	UPI0000070C6D	SNV	AC015987.2,5_prime_UTR_variant,,ENST00000416501,;MTPN,3_prime_UTR_variant,,ENST00000393085,;LUZP6,upstream_gene_variant,,ENST00000589735,;MTPN,downstream_gene_variant,,ENST00000435723,;AC015987.1,intron_variant,,ENST00000419211,;	738	29	43	SUCCESS
TMEM215	401498	.	GRCh37	9	32786562	32786562	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-BW-A5NQ-01	TCGA-BW-A5NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	12	105	0	ENST00000342743.5:c.*1673T>G			ENST00000342743	NM_212558.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6530.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATTATTT	NONE	.	.	.	.	.	ENSP00000345468	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342743	Transcript	.	.	ENSG00000188133	33816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM215_HUMAN	TMEM215	HGNC	.	.	UPI0000049371	SNV	TMEM215,3_prime_UTR_variant,,ENST00000342743,;	2746	105	65	SUCCESS
KRT86	3892	.	GRCh37	12	52695648	52695648	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	32	85	0				ENST00000293525	NM_002284.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41785.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCTCTCCAT	NONE	.	1	.	.	.	ENSP00000293525	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000293525	Transcript	.	.	ENSG00000170442	6463	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT86_HUMAN	KRT86	HGNC	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN	.	UPI000006E57E	SNV	KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000553310,;KRT86,upstream_gene_variant,,ENST00000293525,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;	.	85	153	SUCCESS
SPACA7	122258	.	GRCh37	13	113088962	113088962	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	27	0	ENST00000283550.3:c.*99T>C			ENST00000283550	NM_145248.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9524.1	.	MUTECT|VARSCANS	.	CGTTCTCTGAA	NONE	.	.	.	.	.	ENSP00000283550	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000283550	Transcript	.	.	ENSG00000153498	29575	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPAC7_HUMAN	SPACA7	HGNC	.	.	UPI000013DD4B	SNV	SPACA7,3_prime_UTR_variant,,ENST00000283550,;SPACA7,3_prime_UTR_variant,,ENST00000375699,;	754	27	46	SUCCESS
FLRT2	23768	.	GRCh37	14	86092742	86092742	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	36	126	0	ENST00000330753.4:c.*2901A>G			ENST00000330753	NM_013231.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9877.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTCACTGGC	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,downstream_gene_variant,,ENST00000553650,;	5651	126	98	SUCCESS
SBSN	374897	.	GRCh37	19	36014399	36014399	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs201427599	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	54	77	0	ENST00000452271.2:c.*13C>T			ENST00000452271	NM_001166034.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGGCCGGA	NONE	.	.	.	.	.	ENSP00000430242	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000452271	Transcript	.	.	ENSG00000189001	24950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBSN_HUMAN	SBSN	HGNC	.	.	UPI000059D6E7	SNV	SBSN,3_prime_UTR_variant,,ENST00000452271,;SBSN,3_prime_UTR_variant,,ENST00000518157,;SBSN,3_prime_UTR_variant,,ENST00000588674,;	1815	77	135	SUCCESS
KCNC4	3749	.	GRCh37	1	110775457	110775457	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	26	28	0	ENST00000369787.3:c.*526C>A			ENST00000369787	NM_004978.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS821.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGTCCCCCC	NONE	.	.	.	.	.	ENSP00000358802	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000369787	Transcript	.	.	ENSG00000116396	6236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNC4_HUMAN	KCNC4	HGNC	.	.	UPI000013CAC8	SNV	KCNC4,3_prime_UTR_variant,,ENST00000369787,;KCNC4,intron_variant,,ENST00000413138,;KCNC4,intron_variant,,ENST00000438661,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,intron_variant,,ENST00000459877,;KCNC4,intron_variant,,ENST00000469655,;	2461	28	51	SUCCESS
MTHFR	4524	.	GRCh37	1	11849574	11849574	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	95	91	0	ENST00000376590.3:c.*1163G>C			ENST00000376590	NM_005957.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS137.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCCAGGGA	NONE	.	.	.	.	.	ENSP00000365777	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376592	Transcript	.	.	ENSG00000177000	7436	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTHR_HUMAN	MTHFR	HGNC	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN	.	UPI0000141098	SNV	MTHFR,3_prime_UTR_variant,,ENST00000376585,;C1orf167,3_prime_UTR_variant,,ENST00000312793,;MTHFR,3_prime_UTR_variant,,ENST00000376590,;C1orf167,3_prime_UTR_variant,,ENST00000433342,;MTHFR,3_prime_UTR_variant,,ENST00000376583,;MTHFR,3_prime_UTR_variant,,ENST00000376592,;C1orf167,downstream_gene_variant,,ENST00000449278,;C1orf167,downstream_gene_variant,,ENST00000444493,;C1orf167,non_coding_transcript_exon_variant,,ENST00000482358,;C1orf167,downstream_gene_variant,,ENST00000475041,;	3263	91	211	SUCCESS
C1orf111	0	.	GRCh37	1	162343797	162343797	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	24	72	0	ENST00000367935.5:c.*41T>G			ENST00000367935	NM_182581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1238.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCAGACTG	NONE	.	.	.	.	.	ENSP00000356912	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000367935	Transcript	.	.	ENSG00000171722	27648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA111_HUMAN	C1orf111	HGNC	.	.	UPI000013EC35	SNV	C1orf111,3_prime_UTR_variant,,ENST00000367935,;RP11-565P22.6,intron_variant,,ENST00000431696,;C1orf226,intron_variant,,ENST00000420220,;NOS1AP,downstream_gene_variant,,ENST00000493151,;C1orf226,upstream_gene_variant,,ENST00000426197,;NOS1AP,downstream_gene_variant,,ENST00000361897,;NOS1AP,intron_variant,,ENST00000367932,;C1orf111,downstream_gene_variant,,ENST00000493255,;	907	72	106	SUCCESS
PHACTR4	65979	.	GRCh37	1	28823173	28823173	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	52	0	ENST00000373839.3:c.*112G>C			ENST00000373839	NM_001048183.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41294.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGGGATCT	NONE	.	.	.	.	.	ENSP00000362942	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000373836	Transcript	.	.	ENSG00000204138	25793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PHAR4_HUMAN	PHACTR4	HGNC	.	.	UPI0000374EB3	SNV	PHACTR4,3_prime_UTR_variant,,ENST00000373836,;PHACTR4,3_prime_UTR_variant,,ENST00000373839,;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;	2465	52	27	SUCCESS
RRP7A	27341	.	GRCh37	22	42908252	42908252	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	476	133	301	0	ENST00000323013.6:c.*664G>C			ENST00000323013	NM_015703.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14036.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCTGGAA	NONE	.	.	.	.	.	ENSP00000321449	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000323013	Transcript	.	.	ENSG00000189306	24286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RRP7A_HUMAN	RRP7A	HGNC	.	.	UPI000013C6B7	SNV	RRP7A,3_prime_UTR_variant,,ENST00000323013,;SERHL,non_coding_transcript_exon_variant,,ENST00000359906,;SERHL,downstream_gene_variant,,ENST00000421475,;SERHL,non_coding_transcript_exon_variant,,ENST00000455578,;RRP7A,downstream_gene_variant,,ENST00000483303,;RRP7A,downstream_gene_variant,,ENST00000416699,;	1523	301	609	SUCCESS
CALCRL	10203	.	GRCh37	2	188210836	188210836	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	76	0	ENST00000392370.3:c.*75G>A			ENST00000392370	NM_005795.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2293.1	.	MUTECT|MUSE	.	GTCTTCTGGCT	NONE	.	.	.	.	.	ENSP00000386972	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000409998	Transcript	.	.	ENSG00000064989	16709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CALRL_HUMAN	CALCRL	HGNC	E7EN01_HUMAN,B8ZZJ4_HUMAN	.	UPI000013D4CD	SNV	CALCRL,3_prime_UTR_variant,,ENST00000392370,;CALCRL,3_prime_UTR_variant,,ENST00000410068,;CALCRL,3_prime_UTR_variant,,ENST00000409998,;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	2243	76	30	SUCCESS
BCS1L	617	.	GRCh37	2	219528117	219528142	+	3_prime_UTR_variant	3'UTR	DEL	GGGCTCAGCTCAGCTCTCCTCCTCTA	GGGCTCAGCTCAGCTCTCCTCCTCTA	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	GGGCTCAGCTCAGCTCTCCTCCTCTA	GGGCTCAGCTCAGCTCTCCTCCTCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	55	33	44	0	ENST00000359273.3:c.*9_*34del			ENST00000359273	NM_001257344.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2419.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCA	NONE	.	.	.	.	.	ENSP00000413908	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000431802	Transcript	.	.	ENSG00000074582	1020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BCS1_HUMAN	BCS1L	HGNC	Q53RT4_HUMAN,C9JAS4_HUMAN,C9J8G3_HUMAN,C9J4Q9_HUMAN,C9J1S9_HUMAN	.	UPI0000073C9C	deletion	BCS1L,3_prime_UTR_variant,,ENST00000412366,;BCS1L,3_prime_UTR_variant,,ENST00000426649,;BCS1L,3_prime_UTR_variant,,ENST00000439945,;BCS1L,3_prime_UTR_variant,,ENST00000392109,;BCS1L,3_prime_UTR_variant,,ENST00000359273,;BCS1L,3_prime_UTR_variant,,ENST00000392111,;BCS1L,3_prime_UTR_variant,,ENST00000436603,;BCS1L,3_prime_UTR_variant,,ENST00000392110,;BCS1L,3_prime_UTR_variant,,ENST00000431802,;BCS1L,downstream_gene_variant,,ENST00000423377,;BCS1L,downstream_gene_variant,,ENST00000430322,;BCS1L,downstream_gene_variant,,ENST00000443791,;BCS1L,downstream_gene_variant,,ENST00000456050,;ZNF142,upstream_gene_variant,,ENST00000411696,;ZNF142,upstream_gene_variant,,ENST00000432460,;RNF25,downstream_gene_variant,,ENST00000295704,;BCS1L,downstream_gene_variant,,ENST00000428880,;ZNF142,upstream_gene_variant,,ENST00000450560,;ZNF142,upstream_gene_variant,,ENST00000449707,;BCS1L,non_coding_transcript_exon_variant,,ENST00000465706,;BCS1L,non_coding_transcript_exon_variant,,ENST00000477422,;BCS1L,non_coding_transcript_exon_variant,,ENST00000460579,;RNF25,downstream_gene_variant,,ENST00000474339,;ZNF142,upstream_gene_variant,,ENST00000450765,;BCS1L,downstream_gene_variant,,ENST00000493376,;BCS1L,downstream_gene_variant,,ENST00000471576,;RNF25,downstream_gene_variant,,ENST00000497832,;BCS1L,downstream_gene_variant,,ENST00000490188,;ZNF142,upstream_gene_variant,,ENST00000433921,;RNF25,downstream_gene_variant,,ENST00000423170,;RNF25,downstream_gene_variant,,ENST00000473034,;RNF25,downstream_gene_variant,,ENST00000463188,;	1967-1992	44	88	SUCCESS
CCNL1	57018	.	GRCh37	3	156865913	156865913	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	26	0	ENST00000295926.3:c.*117T>C			ENST00000295926	NM_020307.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3178.1	.	RADIA|VARSCANS	.	CCTAGAGGGTT	NONE	.	.	.	.	.	ENSP00000295926	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000295926	Transcript	.	.	ENSG00000163660	20569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNL1_HUMAN	CCNL1	HGNC	.	.	UPI0000071CE2	SNV	CCNL1,3_prime_UTR_variant,,ENST00000295926,;CCNL1,intron_variant,,ENST00000461804,;CCNL1,downstream_gene_variant,,ENST00000479052,;CCNL1,3_prime_UTR_variant,,ENST00000475298,;CCNL1,non_coding_transcript_exon_variant,,ENST00000474539,;CCNL1,non_coding_transcript_exon_variant,,ENST00000476744,;CCNL1,non_coding_transcript_exon_variant,,ENST00000464316,;CCNL1,non_coding_transcript_exon_variant,,ENST00000471247,;CCNL1,downstream_gene_variant,,ENST00000495471,;CCNL1,downstream_gene_variant,,ENST00000467849,;CCNL1,downstream_gene_variant,,ENST00000464575,;CCNL1,downstream_gene_variant,,ENST00000477127,;CCNL1,downstream_gene_variant,,ENST00000465947,;CCNL1,downstream_gene_variant,,ENST00000483789,;CCNL1,downstream_gene_variant,,ENST00000464679,;CCNL1,downstream_gene_variant,,ENST00000476367,;CCNL1,downstream_gene_variant,,ENST00000481173,;CCNL1,downstream_gene_variant,,ENST00000468977,;CCNL1,downstream_gene_variant,,ENST00000470121,;CCNL1,downstream_gene_variant,,ENST00000478454,;CCNL1,downstream_gene_variant,,ENST00000467081,;CCNL1,downstream_gene_variant,,ENST00000479596,;	1817	26	19	SUCCESS
HLA-DPA2	646702	.	GRCh37	6	33054620	33054620	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	26	0				ENST00000433582				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4765.1	.	RADIA|VARSCANS	.	AGTAGACAGTA	NONE	.	.	.	.	.	ENSP00000408146	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000418931	Transcript	.	.	ENSG00000223865	4940	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPB1_HUMAN	HLA-DPB1	HGNC	T2KSN6_HUMAN,S4T765_HUMAN,S4T728_HUMAN,S4T726_HUMAN,S4T6V7_HUMAN,S4T6S0_HUMAN,N0A2U5_HUMAN,Q7YQ09_HUMAN,Q67AT7_HUMAN,Q67AT3_HUMAN,Q67AT0_HUMAN,Q67AS6_HUMAN,Q67AS4_HUMAN,Q67AS1_HUMAN,Q67AQ5_HUMAN,Q67AQ4_HUMAN,Q67AQ3_HUMAN,Q67AQ2_HUMAN,Q67AQ1_HUMAN,Q67AQ0_HUMAN,Q67AP9_HUMAN,Q67AP8_HUMAN,Q67AP7_HUMAN,Q67AP5_HUMAN,Q67AP4_HUMAN,Q67AP3_HUMAN,Q67AP1_HUMAN,Q49U72_HUMAN,Q49U70_HUMAN,Q49U66_HUMAN,Q49U64_HUMAN,Q49U62_HUMAN,Q49U58_HUMAN,Q49U56_HUMAN,Q49U54_HUMAN,Q49U52_HUMAN,Q49U50_HUMAN,Q49U48_HUMAN,Q49U46_HUMAN,Q49U44_HUMAN,Q49U42_HUMAN,Q49U38_HUMAN,Q49U34_HUMAN,Q49U32_HUMAN,Q49U30_HUMAN,Q49U28_HUMAN,O19686_HUMAN,O19628_HUMAN,L0BXX2_HUMAN,L0BXH6_HUMAN,I4EC15_HUMAN,H2A3H7_HUMAN,E9NVG1_HUMAN,A1YAC1_HUMAN	.	UPI000004494C	SNV	HLA-DPB1,3_prime_UTR_variant,,ENST00000418931,;HLA-DPB1,3_prime_UTR_variant,,ENST00000416804,;HLA-DPB1,downstream_gene_variant,,ENST00000535465,;HLA-DPB1,downstream_gene_variant,,ENST00000428835,;HLA-DPB1,downstream_gene_variant,,ENST00000488575,;HLA-DPB1,downstream_gene_variant,,ENST00000471184,;HLA-DPB1,downstream_gene_variant,,ENST00000478189,;HLA-DPB1,downstream_gene_variant,,ENST00000498038,;HLA-DPA2,downstream_gene_variant,,ENST00000433582,;	1202	26	28	SUCCESS
LEP	3952	.	GRCh37	7	127894836	127894836	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	13	0	ENST00000308868.4:c.*20C>A			ENST00000308868	NM_000230.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5800.1	.	MUTECT|MUSE	.	CTCTTCCTGCA	NONE	.	.	.	.	.	ENSP00000312652	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308868	Transcript	.	.	ENSG00000174697	6553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LEP_HUMAN	LEP	HGNC	A4D0Y8_HUMAN,Q4TVR7_HUMAN	.	UPI00000308D4	SNV	LEP,3_prime_UTR_variant,,ENST00000308868,;	575	13	16	SUCCESS
FAM183B	0	.	GRCh37	7	38725189	38725189	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	65	112	0	ENST00000409072.3:c.*9C>G			ENST00000409072				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACAGCTGAG	NONE	.	.	.	.	.	ENSP00000386657	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000409072	Transcript	.	.	ENSG00000164556	34511	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F183B_HUMAN	FAM183B	HGNC	.	.	UPI000020EE1E	SNV	FAM183B,3_prime_UTR_variant,,ENST00000409072,;	1352	112	163	SUCCESS
ZNF623	9831	.	GRCh37	8	144733912	144733913	+	3_prime_UTR_variant	3'UTR	DEL	AG	AG	-	novel	.	TCGA-CC-5258-01	TCGA-CC-5258-10	AG	AG	.	.	.	.	.	.	.	.	.	.	.	.	.	92	34	35	0	ENST00000501748.2:c.*260_*261del			ENST00000501748	NM_014789.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34957.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTCTCAAGAAAAG	NONE	.	.	.	.	.	ENSP00000445979	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000501748	Transcript	.	.	ENSG00000183309	29084	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN623_HUMAN	ZNF623	HGNC	.	.	UPI00001AF7CB	deletion	ZNF623,3_prime_UTR_variant,,ENST00000501748,;ZNF623,3_prime_UTR_variant,,ENST00000458270,;ZNF623,3_prime_UTR_variant,,ENST00000526926,;	1959-1960	35	126	SUCCESS
RPEL1	729020	.	GRCh37	10	105006851	105006851	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	55	119	0	ENST00000441178.2:c.*411T>A			ENST00000441178	NM_001143909.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS65929.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATGGCTT	NONE	.	.	.	.	.	ENSP00000476672	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000441178	Transcript	.	.	ENSG00000235376	45241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RPEL1	HGNC	Q2QD12_HUMAN	.	UPI00001C1ED0	SNV	RPEL1,3_prime_UTR_variant,,ENST00000441178,;	1208	119	130	SUCCESS
CTXN2	399697	.	GRCh37	15	48495298	48495298	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	4	107	0	ENST00000417307.2:c.*1555C>A			ENST00000417307	NM_001145668.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45254.1	.	MUTECT|MUSE	.	ATTAACTAGCT	NONE	.	.	.	.	.	ENSP00000406145	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417307	Transcript	.	.	ENSG00000233932	31109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTXN2_HUMAN	CTXN2	HGNC	.	.	UPI00005A8DAF	SNV	CTXN2,3_prime_UTR_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000330289,;SLC12A1,upstream_gene_variant,,ENST00000380993,;CTXN2,downstream_gene_variant,,ENST00000541248,;SLC12A1,upstream_gene_variant,,ENST00000396577,;SLC12A1,upstream_gene_variant,,ENST00000558405,;SLC12A1,upstream_gene_variant,,ENST00000561031,;RP11-605F22.1,upstream_gene_variant,,ENST00000559875,;SLC12A1,intron_variant,,ENST00000561127,;	2173	107	74	SUCCESS
HSH2D	84941	.	GRCh37	19	16263989	16263989	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	57	0	ENST00000535834.1:c.*167A>G			ENST00000535834				0	.	.	.	.	.	G	.	nonsense_mediated_decay	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCAGGGAG	NONE	.	.	.	.	.	ENSP00000442140	.	3/5	.	.	.	.	.	.	.	.	.	3/5	PASS	ENST00000535834	Transcript	.	.	ENSG00000196684	24920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HSH2D	HGNC	B4DT26_HUMAN	.	UPI00017A7AD4	SNV	HSH2D,missense_variant,p.Arg118Gly,ENST00000593154,;HSH2D,missense_variant,p.Arg118Gly,ENST00000588246,;HSH2D,missense_variant,p.Arg93Gly,ENST00000593031,;HSH2D,missense_variant,p.Arg29Gly,ENST00000397372,;HSH2D,missense_variant,p.Arg118Gly,ENST00000253680,;HSH2D,3_prime_UTR_variant,,ENST00000535834,;HSH2D,3_prime_UTR_variant,,ENST00000587963,;HSH2D,3_prime_UTR_variant,,ENST00000591154,;HSH2D,3_prime_UTR_variant,,ENST00000586872,;HSH2D,3_prime_UTR_variant,,ENST00000589463,;	840	58	67	SUCCESS
CEACAM18	729767	.	GRCh37	19	51981868	51981868	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	145	29	70	0				ENST00000396477	NM_001278392.1	52		0	.	.	.	.	.	A	P/H	protein_coding	YES	.	155	RADIA|MUTECT|MUSE|VARSCANS	.	GGGACCCCTCC	NONE	.	.	.	.	.	ENSP00000402203	.	2/5	.	.	.	.	.	.	.	.	.	2/5	PASS	ENST00000451626	Transcript	.	.	ENSG00000213822	31949	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.979)	.	deleterious_low_confidence(0)	.	.	CEACAM18	HGNC	.	.	UPI0000DD8506	SNV	CEACAM18,missense_variant,p.Pro52His,ENST00000451626,;CEACAM18,upstream_gene_variant,,ENST00000396477,;	155	70	175	SUCCESS
SIGLEC6	946	.	GRCh37	19	52023303	52023303	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs767569236	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	238	66	139	0	ENST00000425629.3:c.*33A>T			ENST00000425629	NM_001245.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12834.3	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTCTCCA	NONE	.	.	.	.	.	ENSP00000401502	.	8/8	.	.	.	.	.	.	.	.	rs767569236	8/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,3_prime_UTR_variant,,ENST00000425629,;SIGLEC6,3_prime_UTR_variant,,ENST00000436458,;SIGLEC6,3_prime_UTR_variant,,ENST00000391797,;SIGLEC6,3_prime_UTR_variant,,ENST00000343300,;SIGLEC6,3_prime_UTR_variant,,ENST00000359982,;SIGLEC6,3_prime_UTR_variant,,ENST00000346477,;CTD-3073N11.9,intron_variant,,ENST00000598220,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000474054,;	1550	139	304	SUCCESS
RPS28	6234	.	GRCh37	19	8387236	8387236	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs762211349	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	11	0	ENST00000600659.2:c.*97T>G			ENST00000600659	NM_001031.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45953.1	.	MUTECT|MUSE	.	ACACGTAACTG	NONE	byFrequency	.	.	.	.	ENSP00000472469	.	4/4	.	.	.	.	.	.	.	.	rs762211349	4/4	PASS	ENST00000600659	Transcript	1	.	ENSG00000233927	10418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS28_HUMAN	RPS28	HGNC	B2R4R9_HUMAN	.	UPI000000D6F6	SNV	RPS28,3_prime_UTR_variant,,ENST00000600659,;KANK3,downstream_gene_variant,,ENST00000593649,;NDUFA7,upstream_gene_variant,,ENST00000301457,;KANK3,downstream_gene_variant,,ENST00000330915,;RPS28,non_coding_transcript_exon_variant,,ENST00000417088,;RPS28,non_coding_transcript_exon_variant,,ENST00000449223,;RPS28,non_coding_transcript_exon_variant,,ENST00000602140,;NDUFA7,upstream_gene_variant,,ENST00000601101,;NDUFA7,upstream_gene_variant,,ENST00000593729,;NDUFA7,upstream_gene_variant,,ENST00000595856,;NDUFA7,upstream_gene_variant,,ENST00000598884,;NDUFA7,upstream_gene_variant,,ENST00000602059,;	338	11	14	SUCCESS
RPS28	6234	.	GRCh37	19	8387239	8387239	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs770259933	.	TCGA-CC-5259-01	TCGA-CC-5259-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	10	0	ENST00000600659.2:c.*100C>T			ENST00000600659	NM_001031.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45953.1	.	MUTECT|MUSE	.	CGTAACTGAGA	NONE	byFrequency	.	.	.	.	ENSP00000472469	.	4/4	.	.	.	.	.	.	.	.	rs770259933	4/4	PASS	ENST00000600659	Transcript	1	.	ENSG00000233927	10418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS28_HUMAN	RPS28	HGNC	B2R4R9_HUMAN	.	UPI000000D6F6	SNV	RPS28,3_prime_UTR_variant,,ENST00000600659,;KANK3,downstream_gene_variant,,ENST00000593649,;NDUFA7,upstream_gene_variant,,ENST00000301457,;KANK3,downstream_gene_variant,,ENST00000330915,;RPS28,non_coding_transcript_exon_variant,,ENST00000417088,;RPS28,non_coding_transcript_exon_variant,,ENST00000449223,;RPS28,non_coding_transcript_exon_variant,,ENST00000602140,;NDUFA7,upstream_gene_variant,,ENST00000601101,;NDUFA7,upstream_gene_variant,,ENST00000593729,;NDUFA7,upstream_gene_variant,,ENST00000595856,;NDUFA7,upstream_gene_variant,,ENST00000598884,;NDUFA7,upstream_gene_variant,,ENST00000602059,;	341	10	13	SUCCESS
EFHB	151651	.	GRCh37	3	19920998	19920998	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	20	0	ENST00000295824.9:c.*125T>A			ENST00000295824	NM_144715.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33715.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACATACAG	NONE	.	.	.	.	.	ENSP00000295824	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000295824	Transcript	.	.	ENSG00000163576	26330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFHB_HUMAN	EFHB	HGNC	.	.	UPI0000209A4C	SNV	EFHB,3_prime_UTR_variant,,ENST00000344838,;EFHB,3_prime_UTR_variant,,ENST00000295824,;EFHB,downstream_gene_variant,,ENST00000467602,;	2789	20	15	SUCCESS
ANKRD66	100287718	.	GRCh37	6	46726685	46726685	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	39	0	ENST00000565422.1:c.*27G>A			ENST00000565422	NM_001162435.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59024.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCAAGGAACT	NONE	.	.	.	.	.	ENSP00000454770	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000565422	Transcript	.	.	ENSG00000230062	44669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANR66_HUMAN	ANKRD66	HGNC	.	.	UPI0001F7E3C7	SNV	ANKRD66,3_prime_UTR_variant,,ENST00000565422,;ANKRD66,3_prime_UTR_variant,,ENST00000536046,;ANKRD66,downstream_gene_variant,,ENST00000445060,;RP11-268F1.3,intron_variant,,ENST00000438738,;	788	39	39	SUCCESS
SFTPC	6440	.	GRCh37	8	22021619	22021619	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	44	84	0	ENST00000318561.3:c.*18+47A>T			ENST00000318561	NM_001172410.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43722.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCACCTGC	NONE	.	.	.	.	.	ENSP00000316152	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318561	Transcript	1	.	ENSG00000168484	10802	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSPC_HUMAN	SFTPC	HGNC	.	.	UPI0000140371	SNV	SFTPC,3_prime_UTR_variant,,ENST00000521315,;SFTPC,intron_variant,,ENST00000520605,;SFTPC,intron_variant,,ENST00000524255,;SFTPC,intron_variant,,ENST00000318561,;SFTPC,downstream_gene_variant,,ENST00000522109,;SFTPC,downstream_gene_variant,,ENST00000518615,;SFTPC,downstream_gene_variant,,ENST00000437090,;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000306385,;BMP1,upstream_gene_variant,,ENST00000306349,;BMP1,upstream_gene_variant,,ENST00000397816,;SFTPC,downstream_gene_variant,,ENST00000523296,;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,downstream_gene_variant,,ENST00000524350,;SFTPC,downstream_gene_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000522880,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000520970,;SFTPC,downstream_gene_variant,,ENST00000522630,;BMP1,upstream_gene_variant,,ENST00000520982,;	.	84	77	SUCCESS
C9orf47	1903	.	GRCh37	9	91609135	91609135	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	43	64	0	ENST00000334490.5:c.*2232A>T			ENST00000334490				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAAGGACA	NONE	.	.	.	.	.	ENSP00000335616	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334490	Transcript	.	.	ENSG00000186354	23669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI047_HUMAN	C9orf47	HGNC	.	.	UPI00001C0EE0	SNV	C9orf47,3_prime_UTR_variant,,ENST00000334490,;C9orf47,3_prime_UTR_variant,,ENST00000375851,;S1PR3,intron_variant,,ENST00000358157,;C9orf47,downstream_gene_variant,,ENST00000375850,;S1PR3,upstream_gene_variant,,ENST00000375846,;	2909	64	90	SUCCESS
S1PR3	1903	.	GRCh37	9	91617958	91617958	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	48	73	0	ENST00000358157.2:c.*706T>A			ENST00000358157	NM_005226.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6680.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCTGCGTA	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	6538	73	97	SUCCESS
MMGT1	93380	.	GRCh37	X	135047109	135047109	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	15	28	0	ENST00000305963.2:c.*74C>G			ENST00000305963	NM_173470.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14653.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGAGGAG	NONE	.	.	.	.	.	ENSP00000306220	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000305963	Transcript	.	.	ENSG00000169446	28100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMGT1_HUMAN	MMGT1	HGNC	.	.	UPI000006D414	SNV	MMGT1,3_prime_UTR_variant,,ENST00000433339,;MMGT1,3_prime_UTR_variant,,ENST00000305963,;	858	28	48	SUCCESS
GPR174	84636	.	GRCh37	X	78427717	78427717	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-5259-01	TCGA-CC-5259-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	58	80	0	ENST00000276077.1:c.*211T>A			ENST00000276077	NM_032553.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTTTCTTC	NONE	.	.	.	.	.	ENSP00000276077	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000276077	Transcript	.	.	ENSG00000147138	30245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP174_HUMAN	GPR174	HGNC	.	.	UPI0000050477	SNV	GPR174,3_prime_UTR_variant,,ENST00000276077,;RP11-159L8.2,downstream_gene_variant,,ENST00000605383,;	1249	80	80	SUCCESS
RAG1	5896	.	GRCh37	11	36598366	36598366	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs886048258	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	43	0	ENST00000299440.5:c.*386del			ENST00000299440	NM_000448.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7902.1	.	VARSCANI*|PINDEL	.	TTTTCATTTTTT	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	rs763294869	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	deletion	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	3624	43	27	SUCCESS
ANAPC15	25906	.	GRCh37	11	71819726	71819726	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	24	0				ENST00000227618	NM_001278485.1	211		0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS44668.1	631	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACCTGGTG	NONE	.	.	PROSITE_profiles:PS51682,hmmpanther:PTHR10509,hmmpanther:PTHR10509:SF1,Pfam_domain:PF01596,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000409789	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.271)	.	tolerated(0.56)	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,missense_variant,p.Leu211Met,ENST00000435085,;LRTOMT,missense_variant,p.Leu211Met,ENST00000307198,;LRTOMT,missense_variant,p.Leu171Met,ENST00000419228,;LRTOMT,3_prime_UTR_variant,,ENST00000439209,;ANAPC15,intron_variant,,ENST00000502597,;ANAPC15,intron_variant,,ENST00000543050,;ANAPC15,downstream_gene_variant,,ENST00000537644,;ANAPC15,downstream_gene_variant,,ENST00000227618,;ANAPC15,downstream_gene_variant,,ENST00000545944,;ANAPC15,downstream_gene_variant,,ENST00000543587,;ANAPC15,downstream_gene_variant,,ENST00000545680,;ANAPC15,downstream_gene_variant,,ENST00000438939,;ANAPC15,downstream_gene_variant,,ENST00000535503,;ANAPC15,downstream_gene_variant,,ENST00000542531,;ANAPC15,downstream_gene_variant,,ENST00000538393,;ANAPC15,downstream_gene_variant,,ENST00000535234,;ANAPC15,downstream_gene_variant,,ENST00000545333,;ANAPC15,downstream_gene_variant,,ENST00000539395,;ANAPC15,downstream_gene_variant,,ENST00000538919,;snoU13,downstream_gene_variant,,ENST00000459046,;ANAPC15,downstream_gene_variant,,ENST00000543015,;LRTOMT,3_prime_UTR_variant,,ENST00000544409,;LRTOMT,3_prime_UTR_variant,,ENST00000427369,;LRTOMT,downstream_gene_variant,,ENST00000541899,;ANAPC15,downstream_gene_variant,,ENST00000538117,;	1723	24	37	SUCCESS
WEE1	7465	.	GRCh37	11	9610234	9610234	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	24	0	ENST00000450114.2:c.*85T>C			ENST00000450114	NM_003390.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7800.1	.	MUTECT|MUSE	.	ATTACTTTCTC	NONE	.	.	.	.	.	ENSP00000402084	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000450114	Transcript	.	.	ENSG00000166483	12761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WEE1_HUMAN	WEE1	HGNC	E9PRU3_HUMAN	.	UPI0000138EF4	SNV	WEE1,3_prime_UTR_variant,,ENST00000299613,;WEE1,3_prime_UTR_variant,,ENST00000450114,;WEE1,intron_variant,,ENST00000527848,;WEE1,downstream_gene_variant,,ENST00000524612,;WEE1,downstream_gene_variant,,ENST00000530712,;WEE1,3_prime_UTR_variant,,ENST00000530175,;WEE1,downstream_gene_variant,,ENST00000532275,;	2279	24	17	SUCCESS
NIFK	84365	.	GRCh37	2	122485225	122485225	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs958821433	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	53	187	1	ENST00000285814.4:c.*75A>G			ENST00000285814	NM_032390.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2135.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATTGTAC	NONE	.	.	.	.	.	ENSP00000285814	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000285814	Transcript	.	.	ENSG00000155438	17838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MK67I_HUMAN	NIFK	HGNC	C9J808_HUMAN	.	UPI00000738EB	SNV	NIFK,3_prime_UTR_variant,,ENST00000285814,;NIFK,3_prime_UTR_variant,,ENST00000423105,;NIFK,downstream_gene_variant,,ENST00000451734,;NIFK,downstream_gene_variant,,ENST00000447132,;NIFK-AS1,intron_variant,,ENST00000419902,;NIFK,downstream_gene_variant,,ENST00000498570,;NIFK,downstream_gene_variant,,ENST00000481978,;NIFK,downstream_gene_variant,,ENST00000477693,;	1030	188	152	SUCCESS
UQCRQ	27089	.	GRCh37	5	132203343	132203343	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	57	0	ENST00000378665.1:c.*69G>C			ENST00000378665				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34237.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAGTGTCT	NONE	.	.	.	.	.	ENSP00000367939	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000378670	Transcript	1	.	ENSG00000164405	29594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	QCR8_HUMAN	UQCRQ	HGNC	.	.	UPI000015D476	SNV	UQCRQ,3_prime_UTR_variant,,ENST00000378667,;UQCRQ,3_prime_UTR_variant,,ENST00000378670,;UQCRQ,3_prime_UTR_variant,,ENST00000378665,;LEAP2,upstream_gene_variant,,ENST00000296877,;GDF9,upstream_gene_variant,,ENST00000296875,;GDF9,upstream_gene_variant,,ENST00000378673,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000472320,;GDF9,upstream_gene_variant,,ENST00000464378,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;UQCRQ,downstream_gene_variant,,ENST00000480372,;	459	57	81	SUCCESS
CLDN4	1364	.	GRCh37	7	73246325	73246325	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	17	46	0	ENST00000340958.2:c.*164C>A			ENST00000340958	NM_001305.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5560.1	.	RADIA|MUSE|VARSCANS	.	CCTCTCTGGCC	NONE	.	.	.	.	.	ENSP00000409544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000435050	Transcript	.	.	ENSG00000189143	2046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CLD4_HUMAN	CLDN4	HGNC	Q75L80_HUMAN,B3KW38_HUMAN	.	UPI0000044941	SNV	CLDN4,3_prime_UTR_variant,,ENST00000435050,;CLDN4,3_prime_UTR_variant,,ENST00000340958,;CLDN4,3_prime_UTR_variant,,ENST00000431918,;WBSCR27,downstream_gene_variant,,ENST00000297873,;CLDN4,downstream_gene_variant,,ENST00000466411,;CLDN4,downstream_gene_variant,,ENST00000476494,;WBSCR27,downstream_gene_variant,,ENST00000458679,;	3474	46	79	SUCCESS
LONRF1	91694	.	GRCh37	8	12580550	12580550	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	54	0	ENST00000398246.3:c.*55A>G			ENST00000398246	NM_152271.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5987.2	.	RADIA|VARSCANS	.	CAATCTGGCCA	NONE	.	.	.	.	.	ENSP00000381298	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000398246	Transcript	.	.	ENSG00000154359	26302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LONF1_HUMAN	LONRF1	HGNC	E9PQH4_HUMAN	.	UPI0000696489	SNV	LONRF1,3_prime_UTR_variant,,ENST00000524526,;LONRF1,3_prime_UTR_variant,,ENST00000398246,;LONRF1,3_prime_UTR_variant,,ENST00000533751,;LONRF1,3_prime_UTR_variant,,ENST00000525024,;MIR3926-2,downstream_gene_variant,,ENST00000578598,;MIR5692A1,downstream_gene_variant,,ENST00000582551,;LONRF1,3_prime_UTR_variant,,ENST00000526680,;LONRF1,non_coding_transcript_exon_variant,,ENST00000527055,;	2447	54	37	SUCCESS
C9orf47	1903	.	GRCh37	9	91609053	91609053	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	52	0	ENST00000334490.5:c.*2150C>A			ENST00000334490				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCTCCCAAA	NONE	.	.	.	.	.	ENSP00000335616	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334490	Transcript	.	.	ENSG00000186354	23669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI047_HUMAN	C9orf47	HGNC	.	.	UPI00001C0EE0	SNV	C9orf47,3_prime_UTR_variant,,ENST00000334490,;C9orf47,3_prime_UTR_variant,,ENST00000375851,;S1PR3,intron_variant,,ENST00000358157,;C9orf47,downstream_gene_variant,,ENST00000375850,;S1PR3,upstream_gene_variant,,ENST00000375846,;	2827	52	64	SUCCESS
GK	2710	.	GRCh37	X	30746904	30746904	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-5260-01	TCGA-CC-5260-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	40	145	0	ENST00000427190.1:c.*45A>T			ENST00000427190				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48090.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATAATGAAA	NONE	.	.	.	.	.	ENSP00000368226	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000378943	Transcript	.	.	ENSG00000198814	4289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLPK_HUMAN	GK	HGNC	.	.	UPI000002AA89	SNV	GK,3_prime_UTR_variant,,ENST00000378945,;GK,3_prime_UTR_variant,,ENST00000378946,;GK,3_prime_UTR_variant,,ENST00000427190,;GK,3_prime_UTR_variant,,ENST00000378943,;GK-AS1,upstream_gene_variant,,ENST00000464659,;GK,3_prime_UTR_variant,,ENST00000481024,;	1886	145	158	SUCCESS
GUCY2C	2984	.	GRCh37	12	14766049	14766049	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs747474356	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	445	79	405	0	ENST00000261170.3:c.*2C>A			ENST00000261170	NM_004963.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8664.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGGTTTAA	NONE	byFrequency	.	.	.	.	ENSP00000261170	.	27/27	.	.	.	.	.	.	.	.	rs747474356	27/27	PASS	ENST00000261170	Transcript	.	.	ENSG00000070019	4688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GUC2C_HUMAN	GUCY2C	HGNC	.	.	UPI000013D135	SNV	GUCY2C,3_prime_UTR_variant,,ENST00000261170,;RP11-695J4.2,intron_variant,,ENST00000545424,;RP11-695J4.2,intron_variant,,ENST00000542401,;	3361	405	525	SUCCESS
FLRT2	23768	.	GRCh37	14	86091537	86091537	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	202	45	192	0	ENST00000330753.4:c.*1696A>C			ENST00000330753	NM_013231.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9877.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAAAATAT	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,intron_variant,,ENST00000553650,;	4446	192	247	SUCCESS
ZNF207	7756	.	GRCh37	17	30696893	30696893	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	28	0	ENST00000321233.6:c.*115T>C			ENST00000321233	NM_003457.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42294.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTTCCCA	NONE	.	.	.	.	.	ENSP00000378165	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000394670	Transcript	.	.	ENSG00000010244	12998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN207_HUMAN	ZNF207	HGNC	Q8N395_HUMAN,J3QS27_HUMAN,J3KTL1_HUMAN,J3KRW6_HUMAN,J3KRB6_HUMAN,H0Y3M2_HUMAN	.	UPI000020164D	SNV	ZNF207,3_prime_UTR_variant,,ENST00000341711,;ZNF207,3_prime_UTR_variant,,ENST00000394670,;ZNF207,3_prime_UTR_variant,,ENST00000321233,;ZNF207,3_prime_UTR_variant,,ENST00000394673,;ZNF207,intron_variant,,ENST00000577908,;ZNF207,downstream_gene_variant,,ENST00000394679,;ZNF207,downstream_gene_variant,,ENST00000342555,;ZNF207,upstream_gene_variant,,ENST00000584416,;ZNF207,intron_variant,,ENST00000579810,;ZNF207,intron_variant,,ENST00000581531,;ZNF207,downstream_gene_variant,,ENST00000579416,;ZNF207,downstream_gene_variant,,ENST00000582705,;ZNF207,downstream_gene_variant,,ENST00000584696,;	1769	28	32	SUCCESS
PRCC	5546	.	GRCh37	1	156770553	156770553	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs879067524	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	9	0	ENST00000271526.4:c.*312del			ENST00000271526	NM_005973.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1157.1	.	INDELOCATOR|VARSCANI	.	CACCACTTTTTT	NONE	.	.	.	.	.	ENSP00000271526	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000271526	Transcript	.	.	ENSG00000143294	9343	11	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRCC_HUMAN	PRCC	HGNC	.	.	UPI000002EFDB	deletion	PRCC,3_prime_UTR_variant,,ENST00000454659,;PRCC,3_prime_UTR_variant,,ENST00000353233,;PRCC,3_prime_UTR_variant,,ENST00000271526,;PRCC,downstream_gene_variant,,ENST00000526188,;PRCC,non_coding_transcript_exon_variant,,ENST00000469071,;	2049	9	13	SUCCESS
CNIH4	29097	.	GRCh37	1	224564920	224564920	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	9	0	ENST00000465271.1:c.*1396C>G			ENST00000465271	NM_014184.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1543.1	.	MUTECT|MUSE	.	GGGGTCACAGA	NONE	.	.	.	.	.	ENSP00000420443	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000465271	Transcript	.	.	ENSG00000143771	25013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNIH4_HUMAN	CNIH4	HGNC	.	.	UPI000012BF0E	SNV	CNIH4,3_prime_UTR_variant,,ENST00000465271,;CNIH4,3_prime_UTR_variant,,ENST00000366857,;CNIH4,intron_variant,,ENST00000366856,;CNIH4,intron_variant,,ENST00000366858,;CNIH4,intron_variant,,ENST00000469200,;CNIH4,downstream_gene_variant,,ENST00000468318,;CNIH4,downstream_gene_variant,,ENST00000366860,;	1891	9	9	SUCCESS
C1orf213	0	.	GRCh37	1	23697598	23697598	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	428	88	471	1	ENST00000335648.3:c.*1427T>A			ENST00000335648				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCTTCTTTG	NONE	.	.	.	.	.	ENSP00000441287	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335648	Transcript	.	.	ENSG00000249087	25122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA213_HUMAN	C1orf213	HGNC	.	.	UPI000013F6D0	SNV	C1orf213,3_prime_UTR_variant,,ENST00000335648,;C1orf213,intron_variant,,ENST00000518821,;C1orf213,intron_variant,,ENST00000454117,;C1orf213,intron_variant,,ENST00000437367,;C1orf213,upstream_gene_variant,,ENST00000518600,;ZNF436,upstream_gene_variant,,ENST00000314011,;ZNF436,upstream_gene_variant,,ENST00000374608,;Y_RNA,downstream_gene_variant,,ENST00000364535,;C1orf213,intron_variant,,ENST00000458053,;	1870	472	517	SUCCESS
NAA20	51126	.	GRCh37	20	20013982	20013982	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	31	0	ENST00000334982.4:c.*151C>T			ENST00000334982	NM_016100.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13141.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATCTCATT	NONE	.	.	.	.	.	ENSP00000335636	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000334982	Transcript	.	.	ENSG00000173418	15908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA20_HUMAN	NAA20	HGNC	.	.	UPI0000029838	SNV	NAA20,3_prime_UTR_variant,,ENST00000310450,;NAA20,3_prime_UTR_variant,,ENST00000398602,;NAA20,3_prime_UTR_variant,,ENST00000334982,;CRNKL1,downstream_gene_variant,,ENST00000377327,;CRNKL1,downstream_gene_variant,,ENST00000377340,;CRNKL1,downstream_gene_variant,,ENST00000536226,;NAA20,non_coding_transcript_exon_variant,,ENST00000480550,;NAA20,non_coding_transcript_exon_variant,,ENST00000463154,;NAA20,non_coding_transcript_exon_variant,,ENST00000484480,;CRNKL1,downstream_gene_variant,,ENST00000521379,;CRNKL1,downstream_gene_variant,,ENST00000490910,;CRNKL1,downstream_gene_variant,,ENST00000496549,;CRNKL1,downstream_gene_variant,,ENST00000490258,;	969	31	26	SUCCESS
BID	637	.	GRCh37	22	18218256	18218256	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	24	65	0	ENST00000399774.3:c.*90A>C			ENST00000399774	NM_001244569.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13747.1	.	RADIA|MUSE	.	GCTGTTGACAT	NONE	.	.	.	.	.	ENSP00000318822	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000317361	Transcript	.	.	ENSG00000015475	1050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BID_HUMAN	BID	HGNC	B2ZP79_HUMAN,B1PL87_HUMAN,A8ASI8_HUMAN	.	UPI00001D69F1	SNV	BID,3_prime_UTR_variant,,ENST00000399767,;BID,3_prime_UTR_variant,,ENST00000317361,;BID,3_prime_UTR_variant,,ENST00000399774,;BID,3_prime_UTR_variant,,ENST00000399765,;BID,downstream_gene_variant,,ENST00000342111,;BID,downstream_gene_variant,,ENST00000551952,;BCL2L13,downstream_gene_variant,,ENST00000355028,;BID,downstream_gene_variant,,ENST00000552886,;BID,downstream_gene_variant,,ENST00000473439,;BID,non_coding_transcript_exon_variant,,ENST00000494097,;BID,downstream_gene_variant,,ENST00000550946,;	1143	65	101	SUCCESS
BID	637	.	GRCh37	22	18218281	18218281	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	26	85	0	ENST00000399774.3:c.*65A>G			ENST00000399774	NM_001244569.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13747.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACACTGGAAG	NONE	.	.	.	.	.	ENSP00000318822	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000317361	Transcript	.	.	ENSG00000015475	1050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BID_HUMAN	BID	HGNC	B2ZP79_HUMAN,B1PL87_HUMAN,A8ASI8_HUMAN	.	UPI00001D69F1	SNV	BID,3_prime_UTR_variant,,ENST00000342111,;BID,3_prime_UTR_variant,,ENST00000399767,;BID,3_prime_UTR_variant,,ENST00000317361,;BID,3_prime_UTR_variant,,ENST00000399774,;BID,3_prime_UTR_variant,,ENST00000399765,;BID,downstream_gene_variant,,ENST00000551952,;BCL2L13,downstream_gene_variant,,ENST00000355028,;BID,downstream_gene_variant,,ENST00000552886,;BID,downstream_gene_variant,,ENST00000473439,;BID,non_coding_transcript_exon_variant,,ENST00000494097,;BID,downstream_gene_variant,,ENST00000550946,;	1118	85	105	SUCCESS
PPP1R21	129285	.	GRCh37	2	48742128	48742128	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	14	0	ENST00000294952.8:c.*245T>C			ENST00000294952	NM_001135629.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46278.1	.	RADIA|SOMATICSNIPER	.	GTAGGTTTCCT	NONE	.	.	.	.	.	ENSP00000294952	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000294952	Transcript	.	.	ENSG00000162869	30595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR21_HUMAN	PPP1R21	HGNC	F8W7E1_HUMAN	.	UPI000015C523	SNV	PPP1R21,3_prime_UTR_variant,,ENST00000281394,;PPP1R21,3_prime_UTR_variant,,ENST00000294952,;PPP1R21,downstream_gene_variant,,ENST00000449090,;PPP1R21,non_coding_transcript_exon_variant,,ENST00000476199,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,downstream_gene_variant,,ENST00000431614,;	2745	14	15	SUCCESS
Z95704.1	0	.	GRCh37	4	68188	68190	+	downstream_gene_variant	3'Flank	DEL	AGA	AGA	GG	rs1581336991	.	TCGA-CC-5262-01	TCGA-CC-5262-10	AGA	AGA	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	28	0				ENST00000384911				0	.	.	.	.	.	GG	.	miRNA	YES	.	.	VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	CTCAAAAGACAGGA	NONE	byCluster	3063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs71220964	.	PASS	ENST00000384911	Transcript	.	.	ENSG00000207643	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	Z95704.1	Clone_based_ensembl_gene	.	.	.	substitution	ZNF595,3_prime_UTR_variant,,ENST00000509152,;Z95704.1,downstream_gene_variant,,ENST00000384911,;ZNF595,intron_variant,,ENST00000507368,;ZNF595,intron_variant,,ENST00000339368,;ZNF595,intron_variant,,ENST00000512065,;	.	28	24	SUCCESS
MCTP1	79772	.	GRCh37	5	94043141	94043141	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	245	59	287	0	ENST00000515393.1:c.*60A>C			ENST00000515393	NM_024717.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34203.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGAGGG	NONE	.	.	.	.	.	ENSP00000424126	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000515393	Transcript	.	.	ENSG00000175471	26183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MCTP1_HUMAN	MCTP1	HGNC	E5RJR1_HUMAN	.	UPI0000D6165C	SNV	MCTP1,3_prime_UTR_variant,,ENST00000515393,;MCTP1,3_prime_UTR_variant,,ENST00000429576,;MCTP1,3_prime_UTR_variant,,ENST00000505078,;MCTP1,downstream_gene_variant,,ENST00000312216,;MCTP1,downstream_gene_variant,,ENST00000508509,;ANKRD32,intron_variant,,ENST00000493934,;MCTP1,intron_variant,,ENST00000514040,;MCTP1,downstream_gene_variant,,ENST00000509850,;	3060	287	304	SUCCESS
MOG	4340	.	GRCh37	6	29638975	29638976	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	260	51	226	0	ENST00000376917.3:c.*15dup			ENST00000376917	NM_002433.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4667.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CACATCTTGGC	NONE	.	.	.	.	.	ENSP00000366095	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376898	Transcript	.	.	ENSG00000204655	7197	2	.	MODIFIER	7/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MOG_HUMAN	MOG	HGNC	.	.	UPI00004573E8	insertion	MOG,3_prime_UTR_variant,,ENST00000376917,;MOG,3_prime_UTR_variant,,ENST00000376888,;MOG,3_prime_UTR_variant,,ENST00000376902,;MOG,3_prime_UTR_variant,,ENST00000431798,;MOG,3_prime_UTR_variant,,ENST00000376894,;MOG,intron_variant,,ENST00000533330,;MOG,intron_variant,,ENST00000376891,;MOG,intron_variant,,ENST00000376898,;MOG,intron_variant,,ENST00000494692,;MOG,intron_variant,,ENST00000396701,;ZFP57,downstream_gene_variant,,ENST00000376883,;MOG,downstream_gene_variant,,ENST00000490427,;MOG,downstream_gene_variant,,ENST00000396704,;ZFP57,downstream_gene_variant,,ENST00000488757,;MOG,downstream_gene_variant,,ENST00000483013,;ZFP57,downstream_gene_variant,,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,3_prime_UTR_variant,,ENST00000376889,;MOG,intron_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000376903,;MOG,downstream_gene_variant,,ENST00000485885,;	.	226	311	SUCCESS
CALD1	800	.	GRCh37	7	134653182	134653182	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	52	116	0	ENST00000361675.2:c.*86A>G			ENST00000361675				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5835.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGATTTAC	NONE	.	.	.	.	.	ENSP00000354826	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000361675	Transcript	.	.	ENSG00000122786	1441	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALD1_HUMAN	CALD1	HGNC	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN	.	UPI0000140A64	SNV	CALD1,3_prime_UTR_variant,,ENST00000393118,;CALD1,3_prime_UTR_variant,,ENST00000361901,;CALD1,3_prime_UTR_variant,,ENST00000422748,;CALD1,3_prime_UTR_variant,,ENST00000361675,;CALD1,3_prime_UTR_variant,,ENST00000543443,;CALD1,3_prime_UTR_variant,,ENST00000495522,;CALD1,3_prime_UTR_variant,,ENST00000361388,;CALD1,3_prime_UTR_variant,,ENST00000424922,;CALD1,downstream_gene_variant,,ENST00000417172,;CALD1,intron_variant,,ENST00000466704,;CALD1,3_prime_UTR_variant,,ENST00000443197,;CALD1,3_prime_UTR_variant,,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000480638,;CALD1,downstream_gene_variant,,ENST00000473714,;	2697	116	192	SUCCESS
PTP4A3	11156	.	GRCh37	8	142445230	142445230	+	downstream_gene_variant	3'Flank	SNP	G	G	A	.	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	36	208	0				ENST00000329397				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6383.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGCAGGT	NONE	.	3836	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	COSM1645924	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	1	.	.	.	.	.	1	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,non_coding_transcript_exon_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,synonymous_variant,p.%3D,ENST00000430863,;	.	208	216	SUCCESS
BAAT	570	.	GRCh37	9	104124656	104124656	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-5262-01	TCGA-CC-5262-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	62	0	ENST00000259407.2:c.*54C>G			ENST00000259407	NM_001127610.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6752.1	.	MUTECT|MUSE	.	TGAGAGAAGGT	NONE	.	.	.	.	.	ENSP00000259407	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000259407	Transcript	.	.	ENSG00000136881	932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAAT_HUMAN	BAAT	HGNC	.	.	UPI00000715D7	SNV	BAAT,3_prime_UTR_variant,,ENST00000395051,;BAAT,3_prime_UTR_variant,,ENST00000259407,;RP11-35N6.6,downstream_gene_variant,,ENST00000447628,;	1420	62	71	SUCCESS
GPRIN2	9721	.	GRCh37	10	47000583	47000583	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	38	0	ENST00000374314.4:c.*326C>A			ENST00000374314				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31192.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACTCTGC	NONE	.	.	.	.	.	ENSP00000363433	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374314	Transcript	.	.	ENSG00000204175	23730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GRIN2_HUMAN	GPRIN2	HGNC	.	.	UPI000013ECB4	SNV	GPRIN2,3_prime_UTR_variant,,ENST00000374314,;GPRIN2,downstream_gene_variant,,ENST00000374317,;	2658	38	60	SUCCESS
SLITRK5	26050	.	GRCh37	13	88331330	88331330	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	22	93	0	ENST00000325089.6:c.*810G>A			ENST00000325089	NM_015567.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9465.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTAGGATCT	NONE	.	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,downstream_gene_variant,,ENST00000400028,;	3906	93	43	SUCCESS
TOP2A	7153	.	GRCh37	17	38545608	38545608	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	16	0	ENST00000423485.1:c.*163A>C			ENST00000423485	NM_001067.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45672.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTATAAAAA	NONE	.	.	.	.	.	ENSP00000411532	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000423485	Transcript	.	.	ENSG00000131747	11989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOP2A_HUMAN	TOP2A	HGNC	J3QR57_HUMAN,J3KTB7_HUMAN	.	UPI0000137195	SNV	TOP2A,3_prime_UTR_variant,,ENST00000423485,;TOP2A,intron_variant,,ENST00000577541,;Y_RNA,downstream_gene_variant,,ENST00000410949,;TOP2A,downstream_gene_variant,,ENST00000578412,;	4918	16	14	SUCCESS
HEXIM1	10614	.	GRCh37	17	43228567	43228567	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	58	129	0	ENST00000332499.2:c.*930A>C			ENST00000332499	NM_006460.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11495.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTAAGACG	NONE	.	.	.	.	.	ENSP00000328773	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332499	Transcript	.	.	ENSG00000186834	24953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXI1_HUMAN	HEXIM1	HGNC	.	.	UPI000006E405	SNV	HEXIM1,3_prime_UTR_variant,,ENST00000332499,;AC002117.1,intron_variant,,ENST00000589950,;AC002117.1,intron_variant,,ENST00000452741,;	3884	129	208	SUCCESS
ACPT	0	.	GRCh37	19	51298425	51298425	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1445490498	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	27	30	0	ENST00000270593.1:c.*10C>T			ENST00000270593	NM_033068.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12802.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAACCAGGGC	NONE	.	.	.	.	.	ENSP00000270593	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000270593	Transcript	.	.	ENSG00000142513	14376	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAT_HUMAN	ACPT	HGNC	.	.	UPI0000048D54	SNV	ACPT,3_prime_UTR_variant,,ENST00000270594,;ACPT,3_prime_UTR_variant,,ENST00000270593,;C19orf48,downstream_gene_variant,,ENST00000601267,;C19orf48,downstream_gene_variant,,ENST00000345523,;C19orf48,downstream_gene_variant,,ENST00000391812,;C19orf48,downstream_gene_variant,,ENST00000596287,;C19orf48,downstream_gene_variant,,ENST00000597705,;C19orf48,downstream_gene_variant,,ENST00000600373,;C19orf48,downstream_gene_variant,,ENST00000597493,;C19orf48,downstream_gene_variant,,ENST00000593287,;C19orf48,downstream_gene_variant,,ENST00000596655,;C19orf48,downstream_gene_variant,,ENST00000598463,;SNORD88A,downstream_gene_variant,,ENST00000408314,;SNORD88B,downstream_gene_variant,,ENST00000408454,;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000596554,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;	1291	30	56	SUCCESS
TMC4	147798	.	GRCh37	19	54663978	54663978	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	38	42	0	ENST00000376591.4:c.*65T>A			ENST00000376591	NM_001145303.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46174.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTACAGAT	NONE	.	.	.	.	.	ENSP00000365776	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000376591	Transcript	.	.	ENSG00000167608	22998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC4_HUMAN	TMC4	HGNC	C9JFU4_HUMAN	.	UPI000040C55F	SNV	TMC4,3_prime_UTR_variant,,ENST00000301187,;TMC4,3_prime_UTR_variant,,ENST00000376591,;TMC4,3_prime_UTR_variant,,ENST00000416963,;CNOT3,downstream_gene_variant,,ENST00000221232,;LENG1,upstream_gene_variant,,ENST00000222224,;CNOT3,downstream_gene_variant,,ENST00000406403,;CNOT3,downstream_gene_variant,,ENST00000471126,;TMC4,downstream_gene_variant,,ENST00000476013,;TMC4,downstream_gene_variant,,ENST00000479750,;TMC4,3_prime_UTR_variant,,ENST00000449860,;TMC4,non_coding_transcript_exon_variant,,ENST00000465790,;TMC4,non_coding_transcript_exon_variant,,ENST00000494594,;CNOT3,downstream_gene_variant,,ENST00000482247,;CNOT3,downstream_gene_variant,,ENST00000489953,;TMC4,downstream_gene_variant,,ENST00000497518,;CNOT3,downstream_gene_variant,,ENST00000447684,;TMC4,downstream_gene_variant,,ENST00000468343,;TMC4,downstream_gene_variant,,ENST00000495398,;	2336	42	80	SUCCESS
GON4L	54856	.	GRCh37	1	155719624	155719626	+	3_prime_UTR_variant	3'UTR	DEL	CTA	CTA	-	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	CTA	CTA	.	.	.	.	.	.	.	.	.	.	.	.	.	152	68	151	0	ENST00000368331.1:c.*749_*751del			ENST00000368331	NM_001037533.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44242.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAGTCTACTAAG	NONE	.	.	.	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	deletion	GON4L,3_prime_UTR_variant,,ENST00000437809,;GON4L,3_prime_UTR_variant,,ENST00000368331,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,downstream_gene_variant,,ENST00000271883,;GON4L,downstream_gene_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,intron_variant,,ENST00000538914,;MSTO2P,intron_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	7595-7597	151	220	SUCCESS
RGS4	5999	.	GRCh37	1	163038570	163038570	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	30	0				ENST00000367909	NM_005613.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44270.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTCTGTAT	NONE	.	.	.	.	.	ENSP00000397181	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,5_prime_UTR_variant,,ENST00000421743,;RGS4,upstream_gene_variant,,ENST00000367908,;RGS4,upstream_gene_variant,,ENST00000367909,;RGS4,upstream_gene_variant,,ENST00000528938,;RGS4,upstream_gene_variant,,ENST00000531057,;RGS4,upstream_gene_variant,,ENST00000367906,;RGS4,upstream_gene_variant,,ENST00000527809,;RGS4,upstream_gene_variant,,ENST00000491263,;RGS4,upstream_gene_variant,,ENST00000533019,;RGS4,upstream_gene_variant,,ENST00000527393,;	6	30	37	SUCCESS
PADI1	29943	.	GRCh37	1	17571384	17571384	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	18	0	ENST00000375471.4:c.*646A>G			ENST00000375471	NM_013358.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS178.1	.	RADIA|VARSCANS	.	CTCCGACCTCA	NONE	.	.	.	.	.	ENSP00000364620	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000375471	Transcript	.	.	ENSG00000142623	18367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PADI1_HUMAN	PADI1	HGNC	B4DQP2_HUMAN,B4DDP3_HUMAN	.	UPI000013D8A2	SNV	PADI1,3_prime_UTR_variant,,ENST00000536552,;PADI1,3_prime_UTR_variant,,ENST00000413717,;PADI1,3_prime_UTR_variant,,ENST00000375471,;PADI1,downstream_gene_variant,,ENST00000537499,;PADI3,upstream_gene_variant,,ENST00000375460,;PADI1,non_coding_transcript_exon_variant,,ENST00000460293,;	2730	18	19	SUCCESS
MMP9	4318	.	GRCh37	20	44645112	44645112	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	9	0	ENST00000372330.3:c.*105A>T			ENST00000372330	NM_004994.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13390.1	.	MUTECT|MUSE	.	AGGAAAGGGAG	NONE	.	.	.	.	.	ENSP00000361405	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000372330	Transcript	1	.	ENSG00000100985	7176	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP9_HUMAN	MMP9	HGNC	.	.	UPI000013C712	SNV	MMP9,3_prime_UTR_variant,,ENST00000372330,;RP11-465L10.10,intron_variant,,ENST00000535913,;RP11-465L10.10,downstream_gene_variant,,ENST00000419897,;AL162458.1,downstream_gene_variant,,ENST00000366171,;	2248	9	19	SUCCESS
FBLN1	2192	.	GRCh37	22	45996417	45996417	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	17	48	0	ENST00000327858.6:c.*91T>A			ENST00000327858	NM_006486.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14067.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACTTTTTT	NONE	.	.	.	.	.	ENSP00000331544	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000327858	Transcript	.	.	ENSG00000077942	3600	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBLN1_HUMAN	FBLN1	HGNC	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN	.	UPI00001AE84C	SNV	FBLN1,3_prime_UTR_variant,,ENST00000348697,;FBLN1,3_prime_UTR_variant,,ENST00000327858,;CTA-941F9.9,downstream_gene_variant,,ENST00000422971,;	2298	48	59	SUCCESS
STK39	27347	.	GRCh37	2	168811841	168811842	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	34	0	ENST00000355999.4:c.*164dup			ENST00000355999	NM_013233.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42770.1	.	INDELOCATOR|VARSCANI	.	AAATTATTTTT	NONE	.	.	.	.	.	ENSP00000348278	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000355999	Transcript	.	.	ENSG00000198648	17717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STK39_HUMAN	STK39	HGNC	.	.	UPI000013D46D	insertion	STK39,3_prime_UTR_variant,,ENST00000355999,;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;	2508-2509	34	43	SUCCESS
VEPH1	79674	.	GRCh37	3	156978884	156978884	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	61	142	0	ENST00000362010.2:c.*39C>T			ENST00000362010	NM_001167912.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3179.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATGCCTGT	NONE	.	.	.	.	.	ENSP00000354919	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000362010	Transcript	.	.	ENSG00000197415	25735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MELT_HUMAN	VEPH1	HGNC	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN	.	UPI000013F6EE	SNV	VEPH1,3_prime_UTR_variant,,ENST00000362010,;VEPH1,3_prime_UTR_variant,,ENST00000392833,;VEPH1,3_prime_UTR_variant,,ENST00000392832,;VEPH1,3_prime_UTR_variant,,ENST00000543418,;RP11-550I24.2,intron_variant,,ENST00000475102,;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,intron_variant,,ENST00000488040,;	2849	142	147	SUCCESS
C5orf30	0	.	GRCh37	5	102612425	102612425	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs925171632	.	TCGA-CC-5263-01	TCGA-CC-5263-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	59	83	0	ENST00000319933.2:c.*184G>T			ENST00000319933	NM_033211.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGGGGATA	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000515669,;C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;	1113	83	87	SUCCESS
IL5	3567	.	GRCh37	5	131877442	131877442	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	63	0	ENST00000231454.1:c.*61G>A			ENST00000231454	NM_000879.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4156.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTCTCACT	NONE	.	.	.	.	.	ENSP00000231454	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000231454	Transcript	.	.	ENSG00000113525	6016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL5_HUMAN	IL5	HGNC	.	.	UPI00000378AD	SNV	IL5,3_prime_UTR_variant,,ENST00000231454,;IL5,downstream_gene_variant,,ENST00000450655,;IL5,downstream_gene_variant,,ENST00000462418,;	510	63	65	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532604	140532604	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-5263-01	TCGA-CC-5263-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	179	252	615	0	ENST00000231136.1:c.*381T>A			ENST00000231136	NM_018939.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4248.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCTCCAAT	NONE	.	.	.	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,3_prime_UTR_variant,,ENST00000231136,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2766	615	432	SUCCESS
FZD10	11211	.	GRCh37	12	130650081	130650081	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1043103712	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	225	61	180	0	ENST00000229030.4:c.*848G>T			ENST00000229030				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9267.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGGCTTA	NONE	.	.	.	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,3_prime_UTR_variant,,ENST00000539839,;FZD10,3_prime_UTR_variant,,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	3078	180	287	SUCCESS
C16orf78	123970	.	GRCh37	16	49433210	49433210	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	49	0	ENST00000299191.3:c.*21C>T			ENST00000299191	NM_144602.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10738.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCACCTTCAG	NONE	.	.	.	.	.	ENSP00000299191	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299191	Transcript	.	.	ENSG00000166152	28479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP078_HUMAN	C16orf78	HGNC	.	.	UPI0000071013	SNV	C16orf78,3_prime_UTR_variant,,ENST00000299191,;	936	49	81	SUCCESS
ZNF541	84215	.	GRCh37	19	48024413	48024413	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	32	14	0	ENST00000391901.3:c.*68G>T			ENST00000391901	NM_001277075.1			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACGCCCT	NONE	.	.	.	.	.	ENSP00000313258	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000314121	Transcript	.	.	ENSG00000118156	25294	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN541_HUMAN	ZNF541	HGNC	.	.	UPI0001837EA0	SNV	ZNF541,3_prime_UTR_variant,,ENST00000314121,;ZNF541,3_prime_UTR_variant,,ENST00000263351,;ZNF541,3_prime_UTR_variant,,ENST00000448976,;ZNF541,3_prime_UTR_variant,,ENST00000391901,;ZNF541,downstream_gene_variant,,ENST00000595558,;	4166	14	53	SUCCESS
RP11-315I20.1	0	.	GRCh37	1	145508934	145508934	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	280	168	198	0				ENST00000598354		121		0	.	.	.	.	.	C	Y/H	protein_coding	YES	CCDS916.1	361	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAATATGAA	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23139,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928,Prints_domain:PR01738	.	.	ENSP00000333001	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000330165	Transcript	.	.	ENSG00000131795	9905	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.998)	.	deleterious(0)	.	RBM8A_HUMAN	RBM8A	HGNC	.	.	UPI0000004160	SNV	RBM8A,missense_variant,p.Tyr121His,ENST00000330165,;RBM8A,missense_variant,p.Tyr120His,ENST00000369307,;RP11-315I20.1,upstream_gene_variant,,ENST00000448561,;RP11-315I20.1,upstream_gene_variant,,ENST00000598103,;RP11-315I20.1,upstream_gene_variant,,ENST00000599147,;RP11-315I20.1,upstream_gene_variant,,ENST00000595494,;RP11-315I20.1,upstream_gene_variant,,ENST00000595518,;RP11-315I20.1,upstream_gene_variant,,ENST00000599469,;RP11-315I20.1,upstream_gene_variant,,ENST00000598354,;RP11-315I20.1,upstream_gene_variant,,ENST00000421764,;RP11-315I20.1,upstream_gene_variant,,ENST00000437797,;RP11-315I20.1,upstream_gene_variant,,ENST00000412239,;RP11-315I20.1,upstream_gene_variant,,ENST00000597144,;RP11-315I20.1,upstream_gene_variant,,ENST00000601726,;RP11-315I20.1,upstream_gene_variant,,ENST00000596355,;RP11-315I20.1,upstream_gene_variant,,ENST00000447686,;RP11-315I20.1,upstream_gene_variant,,ENST00000599626,;RP11-315I20.1,upstream_gene_variant,,ENST00000600340,;GNRHR2,downstream_gene_variant,,ENST00000361928,;GNRHR2,downstream_gene_variant,,ENST00000312753,;RBM8A,non_coding_transcript_exon_variant,,ENST00000498663,;RBM8A,downstream_gene_variant,,ENST00000484825,;GNRHR2,downstream_gene_variant,,ENST00000581100,;	430	198	449	SUCCESS
GUK1	2987	.	GRCh37	1	228336430	228336430	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs373687915	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	45	18	0	ENST00000312726.4:c.*32C>T			ENST00000312726	NM_000858.5	201		0	G:0	.	.	.	.	T	P	protein_coding	YES	CCDS55689.1	603	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCATACA	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS50052	.	G:0.0001	ENSP00000355689	.	7/7	.	.	.	.	.	.	.	.	rs373687915	7/7	PASS	ENST00000366728	Transcript	.	.	ENSG00000143774	4693	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KGUA_HUMAN	GUK1	HGNC	.	.	UPI000046FFA0	SNV	GUK1,missense_variant,p.His235Tyr,ENST00000366722,;GUK1,synonymous_variant,p.%3D,ENST00000435153,;GUK1,synonymous_variant,p.%3D,ENST00000366728,;GUK1,3_prime_UTR_variant,,ENST00000391865,;GUK1,3_prime_UTR_variant,,ENST00000366726,;GUK1,3_prime_UTR_variant,,ENST00000366718,;GUK1,3_prime_UTR_variant,,ENST00000366716,;GUK1,3_prime_UTR_variant,,ENST00000312726,;GUK1,3_prime_UTR_variant,,ENST00000366721,;GUK1,3_prime_UTR_variant,,ENST00000366730,;GUK1,3_prime_UTR_variant,,ENST00000366723,;GUK1,downstream_gene_variant,,ENST00000453943,;GUK1,downstream_gene_variant,,ENST00000412265,;GJC2,upstream_gene_variant,,ENST00000366714,;GUK1,non_coding_transcript_exon_variant,,ENST00000465025,;GUK1,non_coding_transcript_exon_variant,,ENST00000498115,;GUK1,non_coding_transcript_exon_variant,,ENST00000493138,;GUK1,non_coding_transcript_exon_variant,,ENST00000480056,;GUK1,non_coding_transcript_exon_variant,,ENST00000485838,;GUK1,non_coding_transcript_exon_variant,,ENST00000486668,;GUK1,non_coding_transcript_exon_variant,,ENST00000477206,;GUK1,non_coding_transcript_exon_variant,,ENST00000492871,;GUK1,non_coding_transcript_exon_variant,,ENST00000470040,;GUK1,non_coding_transcript_exon_variant,,ENST00000471270,;GUK1,intron_variant,,ENST00000470155,;GUK1,downstream_gene_variant,,ENST00000498092,;GUK1,downstream_gene_variant,,ENST00000491613,;GUK1,downstream_gene_variant,,ENST00000464858,;GUK1,downstream_gene_variant,,ENST00000485859,;GUK1,downstream_gene_variant,,ENST00000472939,;GUK1,downstream_gene_variant,,ENST00000460224,;GUK1,downstream_gene_variant,,ENST00000478725,;GUK1,downstream_gene_variant,,ENST00000485168,;GUK1,downstream_gene_variant,,ENST00000462807,;GUK1,downstream_gene_variant,,ENST00000481341,;GUK1,downstream_gene_variant,,ENST00000485083,;GUK1,downstream_gene_variant,,ENST00000485733,;GUK1,downstream_gene_variant,,ENST00000493209,;GUK1,downstream_gene_variant,,ENST00000484953,;GUK1,downstream_gene_variant,,ENST00000495999,;	616	18	83	SUCCESS
CSTF1	1477	.	GRCh37	20	54978800	54978800	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	48	30	0	ENST00000217109.4:c.*17G>T			ENST00000217109	NM_001324.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13452.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAGGGTTCT	NONE	.	.	.	.	.	ENSP00000217109	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000217109	Transcript	.	.	ENSG00000101138	2483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSTF1_HUMAN	CSTF1	HGNC	A3KFI9_HUMAN	.	UPI0000000C1E	SNV	CSTF1,3_prime_UTR_variant,,ENST00000217109,;CSTF1,downstream_gene_variant,,ENST00000452950,;CSTF1,downstream_gene_variant,,ENST00000415828,;CSTF1,non_coding_transcript_exon_variant,,ENST00000493039,;CSTF1,downstream_gene_variant,,ENST00000490539,;	1665	30	86	SUCCESS
KCNE1	3753	.	GRCh37	21	35821367	35821367	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs77924638	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	34	0	ENST00000337385.3:c.*176G>A			ENST00000337385	NM_001270403.1			0	.	A:0.0068	.	A:0	.	T	.	protein_coding	YES	CCDS13636.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TATCACAAAAG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000337255	A:0	3/3	.	.	.	.	.	.	.	.	rs77924638	3/3	PASS	ENST00000337385	Transcript	.	A:0.0018	ENSG00000180509	6240	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	KCNE1_HUMAN	KCNE1	HGNC	Q5DI96_HUMAN,C7S316_HUMAN,B4E2L9_HUMAN,A7LFK4_HUMAN	.	UPI000012F141	SNV	KCNE1,3_prime_UTR_variant,,ENST00000399286,;KCNE1,3_prime_UTR_variant,,ENST00000399289,;KCNE1,3_prime_UTR_variant,,ENST00000432085,;KCNE1,3_prime_UTR_variant,,ENST00000337385,;KCNE1,downstream_gene_variant,,ENST00000416357,;KCNE1,downstream_gene_variant,,ENST00000399284,;	942	34	63	SUCCESS
RSPH1	89765	.	GRCh37	21	43892751	43892751	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	16	0	ENST00000291536.3:c.*177G>T			ENST00000291536	NM_080860.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGCCACCC	NONE	.	.	.	.	.	ENSP00000291536	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000291536	Transcript	.	.	ENSG00000160188	12371	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSPH1_HUMAN	RSPH1	HGNC	.	.	UPI000004FA34	SNV	RSPH1,3_prime_UTR_variant,,ENST00000291536,;RSPH1,downstream_gene_variant,,ENST00000398352,;RSPH1,non_coding_transcript_exon_variant,,ENST00000493019,;	1275	16	31	SUCCESS
REXO1L1P	254958	.	GRCh37	8	86569844	86569844	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs866317320	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	13	0	ENST00000379010.2:c.*3855A>T			ENST00000379010	NM_172239.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCTATCAG	NONE	.	.	.	.	.	ENSP00000368295	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379010	Transcript	.	.	ENSG00000205176	24660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GOR_HUMAN	REXO1L1P	HGNC	.	.	UPI000057A11F	SNV	REXO1L1P,3_prime_UTR_variant,,ENST00000379010,;REXO1L3P,upstream_gene_variant,,ENST00000608646,;	5883	13	32	SUCCESS
C9orf163	158055	.	GRCh37	9	139380439	139380439	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-5264-01	TCGA-CC-5264-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	64	87	0	ENST00000354376.1:c.*927T>C			ENST00000354376	NM_152571.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7001.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATATCGAAT	NONE	.	.	.	.	.	ENSP00000346345	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354376	Transcript	.	.	ENSG00000196366	26718	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI163_HUMAN	C9orf163	HGNC	.	.	UPI000006EC86	SNV	C9orf163,3_prime_UTR_variant,,ENST00000354376,;	2493	87	148	SUCCESS
PWWP2B	170394	.	GRCh37	10	134219790	134219790	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs761782086	.	TCGA-CC-A123-01	TCGA-CC-A123-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	21	0	ENST00000305233.5:c.*13C>T			ENST00000305233	NM_138499.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7667.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGACCAGGT	NONE	byFrequency	.	.	.	.	ENSP00000306324	.	2/3	.	.	.	.	.	.	.	.	rs761782086	2/3	PASS	ENST00000305233	Transcript	.	.	ENSG00000171813	25150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PWP2B_HUMAN	PWWP2B	HGNC	.	.	UPI00001D7FE3	SNV	PWWP2B,3_prime_UTR_variant,,ENST00000305233,;PWWP2B,intron_variant,,ENST00000368609,;	1845	21	26	SUCCESS
KCNA5	3741	.	GRCh37	12	5155676	5155676	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs775655212	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	128	312	1	ENST00000252321.3:c.*521T>C			ENST00000252321	NM_002234.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8536.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGATGTTTTTC	NONE	.	.	.	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	rs775655212	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,3_prime_UTR_variant,,ENST00000252321,;	2592	313	347	SUCCESS
ITPRIPL2	162073	.	GRCh37	16	19129335	19129335	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	24	38	0	ENST00000381440.3:c.*1944T>C			ENST00000381440	NM_001034841.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32395.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTATTTTTT	NONE	.	.	.	.	.	ENSP00000370849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381440	Transcript	.	.	ENSG00000205730	27257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPIL2_HUMAN	ITPRIPL2	HGNC	.	.	UPI000023760C	SNV	ITPRIPL2,3_prime_UTR_variant,,ENST00000381440,;ITPRIPL2,downstream_gene_variant,,ENST00000566735,;RP11-626G11.3,downstream_gene_variant,,ENST00000567236,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;	4082	38	35	SUCCESS
GON4L	54856	.	GRCh37	1	155719625	155719625	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	42	141	0	ENST00000368331.1:c.*750A>C			ENST00000368331	NM_001037533.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44242.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTCTACTAA	NONE	.	.	.	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,3_prime_UTR_variant,,ENST00000437809,;GON4L,3_prime_UTR_variant,,ENST00000368331,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,downstream_gene_variant,,ENST00000271883,;GON4L,downstream_gene_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,intron_variant,,ENST00000538914,;MSTO2P,intron_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	7596	141	144	SUCCESS
HTR1F	3355	.	GRCh37	3	88041004	88041004	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	69	141	0	ENST00000319595.4:c.*4T>C			ENST00000319595	NM_000866.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2920.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTTAAAAA	NONE	.	.	.	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,3_prime_UTR_variant,,ENST00000319595,;	1159	141	135	SUCCESS
TINAG	27283	.	GRCh37	6	54254816	54254816	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A123-01	TCGA-CC-A123-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	19	0	ENST00000259782.4:c.*93G>T			ENST00000259782	NM_014464.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4955.1	.	MUTECT|MUSE	.	TCTTTGTCTCT	NONE	.	.	.	.	.	ENSP00000259782	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000259782	Transcript	.	.	ENSG00000137251	14599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TINAG_HUMAN	TINAG	HGNC	B1AQ11_HUMAN	.	UPI000013D078	SNV	TINAG,3_prime_UTR_variant,,ENST00000259782,;	1620	19	21	SUCCESS
SAMD9	54809	.	GRCh37	7	92730610	92730610	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs752992500	.	TCGA-CC-A123-01	TCGA-CC-A123-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	27	0	ENST00000379958.2:c.*31T>C			ENST00000379958	NM_017654.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34680.1	.	RADIA|VARSCANS	.	CTGAGATCAAA	NONE	.	.	.	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,3_prime_UTR_variant,,ENST00000379958,;SAMD9,downstream_gene_variant,,ENST00000446617,;	5071	27	37	SUCCESS
FHL1	2273	.	GRCh37	X	135292200	135292200	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs370017771	.	TCGA-CC-A123-01	TCGA-CC-A123-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	81	126	0	ENST00000345434.3:c.*87T>A			ENST00000345434				0	G:0	.	.	.	.	A	.	protein_coding	YES	CCDS55507.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCTGTCCT	NONE	byFrequency|byCluster	.	.	.	G:0.0001	ENSP00000377710	.	8/8	.	.	.	.	.	.	.	.	rs370017771	8/8	PASS	ENST00000394155	Transcript	.	.	ENSG00000022267	3702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHL1_HUMAN	FHL1	HGNC	Q5JXI3_HUMAN,Q5JXI0_HUMAN,Q5JXH9_HUMAN,Q5JXH8_HUMAN,Q5JXH7_HUMAN	.	UPI000007089A	SNV	FHL1,3_prime_UTR_variant,,ENST00000370690,;FHL1,3_prime_UTR_variant,,ENST00000539015,;FHL1,3_prime_UTR_variant,,ENST00000370676,;FHL1,3_prime_UTR_variant,,ENST00000543669,;FHL1,3_prime_UTR_variant,,ENST00000370683,;FHL1,3_prime_UTR_variant,,ENST00000345434,;FHL1,3_prime_UTR_variant,,ENST00000394155,;FHL1,3_prime_UTR_variant,,ENST00000535737,;FHL1,3_prime_UTR_variant,,ENST00000394153,;FHL1,downstream_gene_variant,,ENST00000420362,;FHL1,downstream_gene_variant,,ENST00000449474,;MAP7D3,downstream_gene_variant,,ENST00000370661,;FHL1,downstream_gene_variant,,ENST00000370674,;FHL1,downstream_gene_variant,,ENST00000458357,;FHL1,downstream_gene_variant,,ENST00000452016,;FHL1,downstream_gene_variant,,ENST00000456445,;FHL1,downstream_gene_variant,,ENST00000434885,;FHL1,downstream_gene_variant,,ENST00000477080,;FHL1,downstream_gene_variant,,ENST00000477204,;	1388	126	156	SUCCESS
DAZAP1	26528	.	GRCh37	19	1438803	1438803	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs1307008927	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	57	0				ENST00000233078	NM_018959.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12067.1	.	RADIA|MUSE|VARSCANS	.	CCGCACAGGCA	NONE	.	.	.	.	.	ENSP00000467676	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000586686	Transcript	.	.	ENSG00000115268	10388	.	.	LOW	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RS15_HUMAN	RPS15	HGNC	S4R456_HUMAN,K7EM56_HUMAN,K7EPN6_HUMAN	.	UPI0000000EAF	SNV	RPS15,splice_region_variant,,ENST00000591804,;RPS15,splice_region_variant,,ENST00000593052,;RPS15,splice_region_variant,,ENST00000233609,;RPS15,splice_region_variant,,ENST00000586686,;RPS15,splice_region_variant,,ENST00000589656,;RPS15,splice_region_variant,,ENST00000591032,;RPS15,splice_region_variant,,ENST00000586656,;RPS15,splice_region_variant,,ENST00000586096,;DAZAP1,downstream_gene_variant,,ENST00000233078,;AC027307.3,upstream_gene_variant,,ENST00000594262,;DAZAP1,downstream_gene_variant,,ENST00000336761,;DAZAP1,downstream_gene_variant,,ENST00000591999,;DAZAP1,downstream_gene_variant,,ENST00000587079,;RPS15,upstream_gene_variant,,ENST00000585665,;RPS15,3_prime_UTR_variant,,ENST00000592623,;RPS15,non_coding_transcript_exon_variant,,ENST00000592700,;DAZAP1,downstream_gene_variant,,ENST00000585485,;RPS15,upstream_gene_variant,,ENST00000592588,;DAZAP1,downstream_gene_variant,,ENST00000589874,;DAZAP1,downstream_gene_variant,,ENST00000589484,;	.	57	97	SUCCESS
ZIC1	7545	.	GRCh37	3	147131461	147131461	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	11	0	ENST00000282928.4:c.*123T>C			ENST00000282928	NM_003412.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3136.1	.	MUTECT|MUSE	.	TTTTTTAAAAA	NONE	.	.	.	.	.	ENSP00000282928	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	SNV	ZIC1,3_prime_UTR_variant,,ENST00000488404,;ZIC1,3_prime_UTR_variant,,ENST00000282928,;ZIC1,intron_variant,,ENST00000472523,;	2196	11	20	SUCCESS
ALG3	10195	.	GRCh37	3	183967178	183967178	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	25	0				ENST00000397676	NM_005787.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46968.1	.	RADIA|VARSCANS	.	CAGATTTCCTG	NONE	.	419	.	.	.	ENSP00000380793	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397676	Transcript	.	.	ENSG00000214160	23056	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALG3_HUMAN	ALG3	HGNC	.	.	UPI0000125838	SNV	ALG3,5_prime_UTR_variant,,ENST00000445626,;ALG3,5_prime_UTR_variant,,ENST00000455059,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,upstream_gene_variant,,ENST00000446569,;ALG3,upstream_gene_variant,,ENST00000418734,;ECE2,upstream_gene_variant,,ENST00000324557,;ECE2,upstream_gene_variant,,ENST00000402825,;ALG3,upstream_gene_variant,,ENST00000397676,;ALG3,upstream_gene_variant,,ENST00000477959,;ALG3,upstream_gene_variant,,ENST00000423996,;ALG3,upstream_gene_variant,,ENST00000411922,;ALG3,upstream_gene_variant,,ENST00000482048,;ALG3,upstream_gene_variant,,ENST00000488976,;ALG3,upstream_gene_variant,,ENST00000461415,;ALG3,upstream_gene_variant,,ENST00000462735,;ALG3,upstream_gene_variant,,ENST00000414845,;	.	25	31	SUCCESS
TRIM41	90933	.	GRCh37	5	180662489	180662489	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1387544194	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	29	0	ENST00000315073.5:c.*714A>G			ENST00000315073	NM_033549.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCAACCAAG	NONE	.	.	.	.	.	ENSP00000320869	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,3_prime_UTR_variant,,ENST00000315073,;TRIM41,3_prime_UTR_variant,,ENST00000351937,;GNB2L1,downstream_gene_variant,,ENST00000511900,;GNB2L1,downstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000504128,;GNB2L1,downstream_gene_variant,,ENST00000456394,;GNB2L1,downstream_gene_variant,,ENST00000503081,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,downstream_gene_variant,,ENST00000504726,;GNB2L1,downstream_gene_variant,,ENST00000514455,;GNB2L1,downstream_gene_variant,,ENST00000512968,;GNB2L1,downstream_gene_variant,,ENST00000502844,;GNB2L1,downstream_gene_variant,,ENST00000502905,;TRIM41,downstream_gene_variant,,ENST00000515499,;GNB2L1,downstream_gene_variant,,ENST00000507756,;GNB2L1,downstream_gene_variant,,ENST00000376817,;GNB2L1,downstream_gene_variant,,ENST00000509535,;GNB2L1,downstream_gene_variant,,ENST00000511566,;GNB2L1,downstream_gene_variant,,ENST00000507000,;GNB2L1,downstream_gene_variant,,ENST00000510199,;GNB2L1,downstream_gene_variant,,ENST00000512805,;CTC-338M12.7,upstream_gene_variant,,ENST00000499096,;TRIM41,downstream_gene_variant,,ENST00000510072,;TRIM41,3_prime_UTR_variant,,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;GNB2L1,downstream_gene_variant,,ENST00000514183,;GNB2L1,downstream_gene_variant,,ENST00000507273,;GNB2L1,downstream_gene_variant,,ENST00000508682,;GNB2L1,downstream_gene_variant,,ENST00000503494,;GNB2L1,downstream_gene_variant,,ENST00000504325,;GNB2L1,downstream_gene_variant,,ENST00000502548,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000508044,;GNB2L1,downstream_gene_variant,,ENST00000506312,;GNB2L1,downstream_gene_variant,,ENST00000513060,;TRIM41,downstream_gene_variant,,ENST00000514219,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000502890,;GNB2L1,downstream_gene_variant,,ENST00000511473,;	3317	29	39	SUCCESS
GATAD1	57798	.	GRCh37	7	92085899	92085899	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1305074542	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	5	41	0	ENST00000287957.3:c.*23C>T			ENST00000287957	NM_021167.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5625.1	.	RADIA|MUTECT|VARSCANS	.	GGTTTCCAGGC	NONE	.	.	.	.	.	ENSP00000287957	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000287957	Transcript	.	.	ENSG00000157259	29941	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GATD1_HUMAN	GATAD1	HGNC	.	.	UPI000006FF00	SNV	GATAD1,3_prime_UTR_variant,,ENST00000287957,;AC007566.10,upstream_gene_variant,,ENST00000427458,;GATAD1,non_coding_transcript_exon_variant,,ENST00000493878,;GATAD1,downstream_gene_variant,,ENST00000465247,;	1110	41	54	SUCCESS
LYN	4067	.	GRCh37	8	56922769	56922769	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	16	0	ENST00000519728.1:c.*100A>C			ENST00000519728	NM_002350.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6162.1	.	SOMATICSNIPER|VARSCANS	.	GGATCATCTGC	NONE	.	.	.	.	.	ENSP00000428924	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000519728	Transcript	.	.	ENSG00000254087	6735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYN_HUMAN	LYN	HGNC	E5RJ37_HUMAN,B4DQ79_HUMAN	.	UPI000013DACD	SNV	LYN,3_prime_UTR_variant,,ENST00000519728,;LYN,3_prime_UTR_variant,,ENST00000520220,;RP11-446E9.2,upstream_gene_variant,,ENST00000607326,;	1935	16	20	SUCCESS
IL13RA2	3598	.	GRCh37	X	114238625	114238625	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	218	84	365	0	ENST00000243213.1:c.*18A>T			ENST00000243213	NM_000640.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14565.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCTCTTGA	NONE	.	.	.	.	.	ENSP00000361004	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000371936	Transcript	.	.	ENSG00000123496	5975	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I13R2_HUMAN	IL13RA2	HGNC	.	.	UPI000002E794	SNV	IL13RA2,3_prime_UTR_variant,,ENST00000243213,;IL13RA2,3_prime_UTR_variant,,ENST00000371936,;	1411	365	303	SUCCESS
SPRY3	10251	.	GRCh37	X	155007042	155007042	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A1HT-01	TCGA-CC-A1HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	351	60	345	0	ENST00000302805.2:c.*2642C>T			ENST00000302805	NM_005840.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14769.4	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCCAGAG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	3940	345	412	SUCCESS
DPAGT1	1798	.	GRCh37	11	118972928	118972928	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs903353023	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	28	0				ENST00000354202	NM_001382.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8411.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATAGGTCAAG	NONE	.	.	.	.	.	ENSP00000386597	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000409993	Transcript	.	.	ENSG00000172269	2995	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPT_HUMAN	DPAGT1	HGNC	.	.	UPI000012BA3F	SNV	DPAGT1,5_prime_UTR_variant,,ENST00000409993,;DPAGT1,upstream_gene_variant,,ENST00000354202,;DPAGT1,upstream_gene_variant,,ENST00000432443,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000529600,;DPAGT1,upstream_gene_variant,,ENST00000445653,;C2CD2L,upstream_gene_variant,,ENST00000529885,;C2CD2L,upstream_gene_variant,,ENST00000527854,;C2CD2L,upstream_gene_variant,,ENST00000528271,;DPAGT1,intron_variant,,ENST00000442480,;DPAGT1,upstream_gene_variant,,ENST00000525456,;DPAGT1,upstream_gene_variant,,ENST00000461999,;DPAGT1,upstream_gene_variant,,ENST00000472016,;DPAGT1,upstream_gene_variant,,ENST00000460183,;DPAGT1,upstream_gene_variant,,ENST00000530052,;DPAGT1,upstream_gene_variant,,ENST00000414373,;DPAGT1,upstream_gene_variant,,ENST00000392834,;DPAGT1,upstream_gene_variant,,ENST00000524658,;DPAGT1,upstream_gene_variant,,ENST00000533687,;DPAGT1,upstream_gene_variant,,ENST00000481084,;	1316	28	27	SUCCESS
ATP5B	0	.	GRCh37	12	57031999	57031999	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1387951585	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	19	0	ENST00000262030.3:c.*108A>G			ENST00000262030	NM_001686.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8924.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGTTCAGA	NONE	.	.	.	.	.	ENSP00000262030	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262030	Transcript	.	.	ENSG00000110955	830	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATPB_HUMAN	ATP5B	HGNC	Q0QEN7_HUMAN	.	UPI000012644E	SNV	ATP5B,3_prime_UTR_variant,,ENST00000552919,;ATP5B,3_prime_UTR_variant,,ENST00000262030,;ATP5B,downstream_gene_variant,,ENST00000551570,;ATP5B,downstream_gene_variant,,ENST00000552104,;BAZ2A,upstream_gene_variant,,ENST00000379441,;ATP5B,downstream_gene_variant,,ENST00000552959,;ATP5B,downstream_gene_variant,,ENST00000553007,;BAZ2A,upstream_gene_variant,,ENST00000549506,;BAZ2A,upstream_gene_variant,,ENST00000551812,;BAZ2A,upstream_gene_variant,,ENST00000179765,;ATP5B,downstream_gene_variant,,ENST00000551020,;ATP5B,non_coding_transcript_exon_variant,,ENST00000548474,;ATP5B,downstream_gene_variant,,ENST00000547808,;ATP5B,downstream_gene_variant,,ENST00000550162,;BAZ2A,upstream_gene_variant,,ENST00000550730,;ATP5B,downstream_gene_variant,,ENST00000551182,;ATP5B,downstream_gene_variant,,ENST00000547250,;	1749	19	17	SUCCESS
ZNF525	170958	.	GRCh37	19	53886793	53886793	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	51	0				ENST00000355326				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCAGAGTT	NONE	.	.	.	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,3_prime_UTR_variant,,ENST00000474037,;ZNF525,3_prime_UTR_variant,,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000355326,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	3095	51	50	SUCCESS
SPRR2D	6703	.	GRCh37	1	153012330	153012330	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000360379.3:c.*274T>A			ENST00000360379	NM_006945.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30864.1	.	MUTECT|MUSE	.	TTCCCAGGGAG	NONE	.	.	.	.	.	ENSP00000357746	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368757	Transcript	.	.	ENSG00000163216	11264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPR2D_HUMAN	SPRR2D	HGNC	.	.	UPI000006FE18	SNV	SPRR2D,3_prime_UTR_variant,,ENST00000368756,;SPRR2D,3_prime_UTR_variant,,ENST00000368757,;SPRR2D,3_prime_UTR_variant,,ENST00000360379,;SPRR2D,3_prime_UTR_variant,,ENST00000368758,;	774	12	11	SUCCESS
GJB4	127534	.	GRCh37	1	35228129	35228129	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	31	168	0	ENST00000339480.1:c.*473A>T			ENST00000339480	NM_153212.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS383.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGGGGC	NONE	.	.	.	.	.	ENSP00000345868	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339480	Transcript	.	.	ENSG00000189433	4286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB4_HUMAN	GJB4	HGNC	.	.	UPI0000051E4B	SNV	GJB4,3_prime_UTR_variant,,ENST00000339480,;GJB5,downstream_gene_variant,,ENST00000338513,;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	1644	168	124	SUCCESS
RPF1	80135	.	GRCh37	1	84963309	84963309	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	7	28	0	ENST00000370654.5:c.*156G>T			ENST00000370654	NM_025065.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS695.1	.	MUTECT|MUSE	.	ACTGTGTGTTT	NONE	.	.	.	.	.	ENSP00000359688	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370654	Transcript	.	.	ENSG00000117133	30350	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPF1_HUMAN	RPF1	HGNC	.	.	UPI0000034DF7	SNV	RPF1,3_prime_UTR_variant,,ENST00000370654,;GNG5,downstream_gene_variant,,ENST00000370641,;GNG5,downstream_gene_variant,,ENST00000370645,;GNG5,downstream_gene_variant,,ENST00000487806,;	1221	28	50	SUCCESS
LIPI	149998	.	GRCh37	21	15481268	15481268	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	62	0	ENST00000344577.2:c.*46T>A			ENST00000344577	NM_198996.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13564.1	.	MUTECT|MUSE|VARSCANS	.	TTTACAAGTCC	NONE	.	.	.	.	.	ENSP00000343331	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000344577	Transcript	.	.	ENSG00000188992	18821	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LIPI_HUMAN	LIPI	HGNC	.	.	UPI000015F82D	SNV	LIPI,3_prime_UTR_variant,,ENST00000536861,;LIPI,3_prime_UTR_variant,,ENST00000344577,;AP001347.6,intron_variant,,ENST00000432621,;AP001347.6,intron_variant,,ENST00000428809,;	1518	62	51	SUCCESS
PRR14L	253143	.	GRCh37	22	32072911	32072911	+	downstream_gene_variant	3'Flank	SNP	C	C	A	rs763558555	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	138	0				ENST00000327423	NM_173566.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13900.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGCAGTGG	NONE	byFrequency	4422	.	.	.	ENSP00000331845	.	.	.	.	.	.	.	.	.	.	rs763558555	.	PASS	ENST00000327423	Transcript	.	.	ENSG00000183530	28738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PR14L_HUMAN	PRR14L	HGNC	C9J9V0_HUMAN	.	UPI0000207582	SNV	PRR14L,synonymous_variant,p.%3D,ENST00000397493,;PRR14L,synonymous_variant,p.%3D,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000434485,;PRR14L,downstream_gene_variant,,ENST00000327423,;PRR14L,downstream_gene_variant,,ENST00000432485,;	.	138	93	SUCCESS
SFT2D3	84826	.	GRCh37	2	128461010	128461010	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	6	56	0	ENST00000310981.4:c.*1260G>A			ENST00000310981	NM_032740.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2150.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGTGCCGCA	NONE	.	.	.	.	.	ENSP00000325377	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,3_prime_UTR_variant,,ENST00000322313,;SFT2D3,3_prime_UTR_variant,,ENST00000310981,;	7057	56	37	SUCCESS
KLHL32	114792	.	GRCh37	6	97587183	97587183	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs375488608	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	67	0	ENST00000369261.4:c.*25G>A			ENST00000369261	NM_052904.3			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS5038.1	.	MUTECT|MUSE	.	CAGGAGGAAAA	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000358265	.	11/11	.	.	.	.	.	.	.	.	rs375488608	11/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,3_prime_UTR_variant,,ENST00000539200,;KLHL32,3_prime_UTR_variant,,ENST00000544166,;KLHL32,3_prime_UTR_variant,,ENST00000536676,;KLHL32,3_prime_UTR_variant,,ENST00000369261,;MMS22L,downstream_gene_variant,,ENST00000275053,;	2251	67	35	SUCCESS
FAM110B	90362	.	GRCh37	8	59060401	59060401	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A3M9-01	TCGA-CC-A3M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	31	148	0	ENST00000361488.3:c.*499G>A			ENST00000361488	NM_147189.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGAATAA	NONE	.	.	.	.	.	ENSP00000355204	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361488	Transcript	.	.	ENSG00000169122	28587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F110B_HUMAN	FAM110B	HGNC	.	.	UPI000006E853	SNV	FAM110B,3_prime_UTR_variant,,ENST00000361488,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,intron_variant,,ENST00000520369,;FAM110B,downstream_gene_variant,,ENST00000521413,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000519262,;	2492	148	125	SUCCESS
ANAPC15	25906	.	GRCh37	11	71819858	71819858	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	40	101	0				ENST00000227618	NM_001278485.1	255		0	.	.	.	.	.	A	Q/K	protein_coding	YES	CCDS44668.1	763	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCAGTAT	NONE	.	.	PROSITE_profiles:PS51682,hmmpanther:PTHR10509,hmmpanther:PTHR10509:SF1,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000409789	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.981)	.	tolerated(0.24)	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,missense_variant,p.Gln255Lys,ENST00000435085,;LRTOMT,missense_variant,p.Gln255Lys,ENST00000307198,;LRTOMT,missense_variant,p.Gln215Lys,ENST00000419228,;ANAPC15,intron_variant,,ENST00000502597,;ANAPC15,intron_variant,,ENST00000543050,;ANAPC15,downstream_gene_variant,,ENST00000537644,;ANAPC15,downstream_gene_variant,,ENST00000227618,;ANAPC15,downstream_gene_variant,,ENST00000545944,;ANAPC15,downstream_gene_variant,,ENST00000543587,;ANAPC15,downstream_gene_variant,,ENST00000545680,;ANAPC15,downstream_gene_variant,,ENST00000438939,;ANAPC15,downstream_gene_variant,,ENST00000535503,;ANAPC15,downstream_gene_variant,,ENST00000542531,;LRTOMT,downstream_gene_variant,,ENST00000439209,;ANAPC15,downstream_gene_variant,,ENST00000538393,;ANAPC15,downstream_gene_variant,,ENST00000535234,;ANAPC15,downstream_gene_variant,,ENST00000545333,;ANAPC15,downstream_gene_variant,,ENST00000539395,;ANAPC15,downstream_gene_variant,,ENST00000538919,;snoU13,downstream_gene_variant,,ENST00000459046,;ANAPC15,downstream_gene_variant,,ENST00000543015,;LRTOMT,3_prime_UTR_variant,,ENST00000544409,;LRTOMT,3_prime_UTR_variant,,ENST00000427369,;LRTOMT,downstream_gene_variant,,ENST00000541899,;ANAPC15,downstream_gene_variant,,ENST00000538117,;	1855	101	110	SUCCESS
SERPINA9	327657	.	GRCh37	14	94942653	94942653	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	14	25	0				ENST00000380365				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41982.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGCTAGA	NONE	.	69	.	.	.	ENSP00000337133	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337425	Transcript	.	.	ENSG00000170054	15995	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPA9_HUMAN	SERPINA9	HGNC	.	.	UPI000024706E	SNV	SERPINA9,5_prime_UTR_variant,,ENST00000546329,;SERPINA9,upstream_gene_variant,,ENST00000380365,;SERPINA9,upstream_gene_variant,,ENST00000448305,;SERPINA9,upstream_gene_variant,,ENST00000298845,;SERPINA9,upstream_gene_variant,,ENST00000424550,;SERPINA9,upstream_gene_variant,,ENST00000337425,;SERPINA9,intron_variant,,ENST00000539349,;SERPINA9,5_prime_UTR_variant,,ENST00000538527,;	.	25	18	SUCCESS
MYO15A	51168	.	GRCh37	17	18082258	18082258	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs952153417	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	45	1	ENST00000205890.5:c.*74C>T			ENST00000205890	NM_016239.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42271.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCAGGAT	NONE	.	.	.	.	.	ENSP00000205890	.	66/66	.	.	.	.	.	.	.	.	.	66/66	PASS	ENST00000205890	Transcript	.	.	ENSG00000091536	7594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO15_HUMAN	MYO15A	HGNC	K7EQV1_HUMAN,G3V4G3_HUMAN	.	UPI0000E59E6E	SNV	MYO15A,3_prime_UTR_variant,,ENST00000451725,;MYO15A,3_prime_UTR_variant,,ENST00000418233,;MYO15A,3_prime_UTR_variant,,ENST00000205890,;MYO15A,3_prime_UTR_variant,,ENST00000579848,;ALKBH5,upstream_gene_variant,,ENST00000541285,;RP11-258F1.1,intron_variant,,ENST00000577847,;RP11-258F1.1,intron_variant,,ENST00000583062,;MYO15A,non_coding_transcript_exon_variant,,ENST00000433411,;MYO15A,downstream_gene_variant,,ENST00000578575,;	11005	46	37	SUCCESS
MIR3186	100422944	.	GRCh37	17	79414423	79414423	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	84	0				ENST00000577404		1175		0	.	.	.	.	.	A	H/Q	protein_coding	YES	.	3525	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCATTCTAC	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.012)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.His1087Gln,ENST00000571813,;RP11-1055B8.7,missense_variant,p.His1175Gln,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;RP11-1055B8.7,downstream_gene_variant,,ENST00000570375,;	3525	84	45	SUCCESS
HAS1	3036	.	GRCh37	19	52216668	52216668	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs558430616	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	38	44	0	ENST00000222115.1:c.*12C>T			ENST00000222115	NM_001523.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS12838.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGCGTGG	NONE	by1000G	.	.	A:0	.	ENSP00000222115	A:0	5/5	.	.	.	.	.	.	.	.	rs558430616	5/5	PASS	ENST00000222115	Transcript	.	A:0.0002	ENSG00000105509	4818	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	HYAS1_HUMAN	HAS1	HGNC	Q4VHE4_HUMAN	.	UPI000006D531	SNV	HAS1,3_prime_UTR_variant,,ENST00000540069,;HAS1,3_prime_UTR_variant,,ENST00000222115,;HAS1,3_prime_UTR_variant,,ENST00000601714,;HAS1,downstream_gene_variant,,ENST00000594621,;HAS1,downstream_gene_variant,,ENST00000601667,;SPACA6P,downstream_gene_variant,,ENST00000573896,;	1784	44	93	SUCCESS
CLCC1	23155	.	GRCh37	1	109477253	109477253	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	28	81	0	ENST00000356970.2:c.*39G>A			ENST00000356970				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41362.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTCGAAGG	NONE	.	.	.	.	.	ENSP00000358988	.	11/12	.	.	.	.	.	.	.	.	.	11/12	PASS	ENST00000369971	Transcript	.	.	ENSG00000121940	29675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCC1_HUMAN	CLCC1	HGNC	.	.	UPI0000073C42	SNV	CLCC1,3_prime_UTR_variant,,ENST00000415331,;CLCC1,3_prime_UTR_variant,,ENST00000369969,;CLCC1,3_prime_UTR_variant,,ENST00000369971,;CLCC1,3_prime_UTR_variant,,ENST00000369968,;CLCC1,3_prime_UTR_variant,,ENST00000356970,;CLCC1,3_prime_UTR_variant,,ENST00000369970,;AKNAD1,intron_variant,,ENST00000357393,;CLCC1,intron_variant,,ENST00000369976,;GPSM2,downstream_gene_variant,,ENST00000406462,;CLCC1,downstream_gene_variant,,ENST00000302500,;GPSM2,downstream_gene_variant,,ENST00000264126,;CLCC1,downstream_gene_variant,,ENST00000348264,;CLCC1,intron_variant,,ENST00000482889,;CLCC1,intron_variant,,ENST00000473062,;	1825	81	69	SUCCESS
CD8B	926	.	GRCh37	2	87069268	87069268	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	23	106	0	ENST00000390655.6:c.*162C>A			ENST00000390655	NM_004931.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1995.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCATGCACAT	NONE	.	.	.	.	.	ENSP00000331172	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331469	Transcript	.	.	ENSG00000172116	1707	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD8B_HUMAN	CD8B	HGNC	Q8TD28_HUMAN,B4E0F8_HUMAN	.	UPI0000160A12	SNV	CD8B,3_prime_UTR_variant,,ENST00000390655,;CD8B,intron_variant,,ENST00000349455,;CD8B,intron_variant,,ENST00000393759,;CD8B,intron_variant,,ENST00000393761,;CD8B,intron_variant,,ENST00000331469,;CD8B,downstream_gene_variant,,ENST00000431506,;	.	106	72	SUCCESS
PCDHB10	56126	.	GRCh37	5	140574925	140574925	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1410360029	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	45	135	0	ENST00000239446.4:c.*397G>A			ENST00000239446	NM_018930.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4252.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCGTGTTT	NONE	.	.	.	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,3_prime_UTR_variant,,ENST00000239446,;PCDHB11,upstream_gene_variant,,ENST00000536699,;PCDHB11,upstream_gene_variant,,ENST00000354757,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	2984	135	126	SUCCESS
PDP1	54704	.	GRCh37	8	94937986	94937986	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A3MA-01	TCGA-CC-A3MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	30	105	0	ENST00000297598.4:c.*2085C>T			ENST00000297598	NM_018444.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55262.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTCACTGT	NONE	.	.	.	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	SNV	PDP1,3_prime_UTR_variant,,ENST00000396200,;PDP1,3_prime_UTR_variant,,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000517764,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000520728,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	4050	105	114	SUCCESS
COQ9	57017	.	GRCh37	16	57494669	57494669	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1248314832	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	14	0	ENST00000262507.6:c.*133C>T			ENST00000262507	NM_020312.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32459.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTACCACAGC	NONE	.	.	.	.	.	ENSP00000262507	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000262507	Transcript	.	.	ENSG00000088682	25302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COQ9_HUMAN	COQ9	HGNC	H3BPY0_HUMAN,B4DEE3_HUMAN	.	UPI0000070ECA	SNV	COQ9,3_prime_UTR_variant,,ENST00000567933,;COQ9,3_prime_UTR_variant,,ENST00000262507,;COQ9,3_prime_UTR_variant,,ENST00000567072,;COQ9,intron_variant,,ENST00000563166,;COQ9,downstream_gene_variant,,ENST00000563391,;POLR2C,upstream_gene_variant,,ENST00000219252,;COQ9,downstream_gene_variant,,ENST00000565964,;COQ9,downstream_gene_variant,,ENST00000564655,;POLR2C,upstream_gene_variant,,ENST00000564651,;AC009052.12,upstream_gene_variant,,ENST00000567090,;COQ9,non_coding_transcript_exon_variant,,ENST00000569980,;COQ9,downstream_gene_variant,,ENST00000568790,;COQ9,downstream_gene_variant,,ENST00000562426,;COQ9,downstream_gene_variant,,ENST00000562734,;POLR2C,upstream_gene_variant,,ENST00000563589,;POLR2C,upstream_gene_variant,,ENST00000563115,;POLR2C,upstream_gene_variant,,ENST00000567982,;COQ9,downstream_gene_variant,,ENST00000567576,;POLR2C,upstream_gene_variant,,ENST00000562599,;POLR2C,upstream_gene_variant,,ENST00000562953,;COQ9,downstream_gene_variant,,ENST00000564115,;POLR2C,upstream_gene_variant,,ENST00000564626,;COQ9,downstream_gene_variant,,ENST00000567480,;	1159	14	21	SUCCESS
ATF5	22809	.	GRCh37	19	50436359	50436359	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	36	0	ENST00000423777.2:c.*10G>T			ENST00000423777	NM_001193646.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12789.1	.	RADIA|MUTECT|MUSE	.	GCAGGGGTGTG	NONE	.	.	.	.	.	ENSP00000396954	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000423777	Transcript	.	.	ENSG00000169136	790	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATF5_HUMAN	ATF5	HGNC	M0R040_HUMAN,M0QZD2_HUMAN	.	UPI000003842F	SNV	ATF5,3_prime_UTR_variant,,ENST00000423777,;ATF5,3_prime_UTR_variant,,ENST00000595125,;ATF5,downstream_gene_variant,,ENST00000597227,;NUP62,upstream_gene_variant,,ENST00000422090,;IL4I1,upstream_gene_variant,,ENST00000597295,;ATF5,downstream_gene_variant,,ENST00000600336,;IL4I1,upstream_gene_variant,,ENST00000596022,;IL4I1,upstream_gene_variant,,ENST00000341114,;NUP62,upstream_gene_variant,,ENST00000599567,;NUP62,upstream_gene_variant,,ENST00000594673,;NUP62,upstream_gene_variant,,ENST00000413454,;NUP62,upstream_gene_variant,,ENST00000597723,;IL4I1,upstream_gene_variant,,ENST00000596011,;NUP62,upstream_gene_variant,,ENST00000596437,;ATF5,downstream_gene_variant,,ENST00000596658,;NUP62,upstream_gene_variant,,ENST00000596217,;NUP62,upstream_gene_variant,,ENST00000599788,;NUP62,upstream_gene_variant,,ENST00000596680,;IL4I1,upstream_gene_variant,,ENST00000595948,;NUP62,upstream_gene_variant,,ENST00000352066,;NUP62,upstream_gene_variant,,ENST00000597029,;NUP62,upstream_gene_variant,,ENST00000593652,;NUP62,upstream_gene_variant,,ENST00000600935,;MIR4751,non_coding_transcript_exon_variant,,ENST00000578027,;NUP62,upstream_gene_variant,,ENST00000599830,;NUP62,upstream_gene_variant,,ENST00000601665,;NUP62,upstream_gene_variant,,ENST00000595463,;NUP62,upstream_gene_variant,,ENST00000599560,;NUP62,upstream_gene_variant,,ENST00000600583,;NUP62,upstream_gene_variant,,ENST00000597814,;NUP62,upstream_gene_variant,,ENST00000599186,;NUP62,upstream_gene_variant,,ENST00000598301,;CTC-326K19.6,intron_variant,,ENST00000451973,;IL4I1,upstream_gene_variant,,ENST00000601717,;	1236	36	19	SUCCESS
UPP2	151531	.	GRCh37	2	158991495	158991495	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	22	0	ENST00000005756.4:c.*93G>A			ENST00000005756	NM_173355.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46435.1	.	MUTECT|MUSE	.	ATATAGTTCTC	NONE	.	.	.	.	.	ENSP00000474090	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000605860	Transcript	.	.	ENSG00000007001	23061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UPP2_HUMAN	UPP2	HGNC	.	.	UPI0000EE2DE7	SNV	UPP2,3_prime_UTR_variant,,ENST00000005756,;UPP2,3_prime_UTR_variant,,ENST00000605860,;UPP2,3_prime_UTR_variant,,ENST00000409859,;UPP2-IT1,downstream_gene_variant,,ENST00000439185,;UPP2,non_coding_transcript_exon_variant,,ENST00000460456,;UPP2,non_coding_transcript_exon_variant,,ENST00000489438,;	1264	22	20	SUCCESS
P2RY1	5028	.	GRCh37	3	152554903	152554903	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	6	72	0	ENST00000305097.3:c.*210G>T			ENST00000305097	NM_002563.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3169.1	.	MUTECT|MUSE|VARSCANS	.	TAGAAGTATGT	NONE	.	.	.	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,3_prime_UTR_variant,,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	2168	72	62	SUCCESS
SEMA3B-AS1	101928931	.	GRCh37	3	50306625	50306625	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	19	0				ENST00000421735				0	.	.	.	.	.	C	.	antisense	YES	.	.	SOMATICSNIPER|MUSE	.	AAGGCTCCTCC	NONE	.	1822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000421735	Transcript	.	.	ENSG00000232352	49096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SEMA3B-AS1	HGNC	.	.	.	SNV	SEMA3B-AS1,upstream_gene_variant,,ENST00000421735,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000418948,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000419213,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000414456,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000316347,;SEMA3B,upstream_gene_variant,,ENST00000418576,;SEMA3B,upstream_gene_variant,,ENST00000433753,;SEMA3B,upstream_gene_variant,,ENST00000456560,;SEMA3B,upstream_gene_variant,,ENST00000426144,;SEMA3B,upstream_gene_variant,,ENST00000456210,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000454939,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000454314,;SEMA3B,upstream_gene_variant,,ENST00000434030,;SEMA3B,upstream_gene_variant,,ENST00000419007,;SEMA3B,upstream_gene_variant,,ENST00000439487,;SEMA3B,upstream_gene_variant,,ENST00000441915,;	.	19	14	SUCCESS
PRRC2A	7916	.	GRCh37	6	31610072	31610072	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	6	55	0				ENST00000376007	NM_080686.2	688		0	.	.	.	.	.	A	P/S	protein_coding	YES	CCDS47403.1	2062	MUTECT|MUSE	.	TCCAGGACTCC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15204	.	.	ENSP00000365131	.	15/25	.	.	.	.	.	.	.	.	.	15/25	PASS	ENST00000375964	Transcript	.	.	ENSG00000204463	13919	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.1)	.	tolerated(0.29)	.	BAG6_HUMAN	BAG6	HGNC	F6TC96_HUMAN,F6RG75_HUMAN	.	UPI000047029D	SNV	BAG6,missense_variant,p.Pro682Ser,ENST00000375976,;BAG6,missense_variant,p.Pro682Ser,ENST00000362049,;BAG6,missense_variant,p.Pro718Ser,ENST00000437771,;BAG6,missense_variant,p.Pro688Ser,ENST00000375964,;BAG6,missense_variant,p.Pro682Ser,ENST00000211379,;BAG6,missense_variant,p.Pro718Ser,ENST00000404765,;BAG6,missense_variant,p.Pro556Ser,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000435080,;PRRC2A,downstream_gene_variant,,ENST00000376033,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000453833,;BAG6,upstream_gene_variant,,ENST00000422948,;PRRC2A,downstream_gene_variant,,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,non_coding_transcript_exon_variant,,ENST00000470875,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,downstream_gene_variant,,ENST00000465348,;BAG6,downstream_gene_variant,,ENST00000462682,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;PRRC2A,downstream_gene_variant,,ENST00000492691,;BAG6,upstream_gene_variant,,ENST00000462875,;	2376	55	87	SUCCESS
MTPN	136319	.	GRCh37	7	135613431	135613431	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	27	0	ENST00000393085.3:c.*1243A>G			ENST00000393085	NM_145808.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5842.1	.	RADIA|MUSE	.	ATATTTTCTGC	NONE	.	.	.	.	.	ENSP00000376800	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000393085	Transcript	.	.	ENSG00000105887	15667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTPN_HUMAN	MTPN	HGNC	Q69YG1_HUMAN	.	UPI00000012BC	SNV	MTPN,3_prime_UTR_variant,,ENST00000393085,;AC015987.2,downstream_gene_variant,,ENST00000416501,;LUZP6,upstream_gene_variant,,ENST00000589735,;MTPN,downstream_gene_variant,,ENST00000435723,;AC015987.1,intron_variant,,ENST00000419211,;	1816	27	23	SUCCESS
NPM2	10361	.	GRCh37	8	21894228	21894228	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	31	0	ENST00000289820.6:c.*35G>T			ENST00000289820	NM_182795.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGCCTTC	NONE	.	.	.	.	.	ENSP00000381032	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000397940	Transcript	.	.	ENSG00000158806	7930	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPM2_HUMAN	NPM2	HGNC	E5RGN1_HUMAN,E5RFQ8_HUMAN	.	UPI000019A1BE	SNV	NPM2,3_prime_UTR_variant,,ENST00000289820,;NPM2,3_prime_UTR_variant,,ENST00000381530,;NPM2,3_prime_UTR_variant,,ENST00000521157,;NPM2,3_prime_UTR_variant,,ENST00000518119,;NPM2,3_prime_UTR_variant,,ENST00000397940,;NPM2,downstream_gene_variant,,ENST00000520125,;NPM2,downstream_gene_variant,,ENST00000522813,;snoU13,downstream_gene_variant,,ENST00000459495,;NPM2,downstream_gene_variant,,ENST00000520180,;NPM2,non_coding_transcript_exon_variant,,ENST00000519373,;NPM2,non_coding_transcript_exon_variant,,ENST00000524322,;NPM2,non_coding_transcript_exon_variant,,ENST00000520456,;NPM2,downstream_gene_variant,,ENST00000522953,;	1695	31	30	SUCCESS
NHSL2	340527	.	GRCh37	X	71360819	71360819	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A3MB-01	TCGA-CC-A3MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	29	0	ENST00000510661.1:c.*193G>A			ENST00000510661				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGAGGCA	NONE	.	.	.	.	.	ENSP00000444617	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540800	Transcript	.	.	ENSG00000204131	33737	.	.	MODIFIER	6/7	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NHSL2	HGNC	F5H593_HUMAN	.	UPI0001B09231	SNV	NHSL2,3_prime_UTR_variant,,ENST00000373677,;NHSL2,3_prime_UTR_variant,,ENST00000510661,;NHSL2,3_prime_UTR_variant,,ENST00000535692,;NHSL2,intron_variant,,ENST00000540800,;RP11-262D11.2,upstream_gene_variant,,ENST00000456343,;	.	29	35	SUCCESS
EIF5AL1	143244	.	GRCh37	10	81272951	81272951	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	29	119	0	ENST00000520547.2:c.*81G>T			ENST00000520547	NM_001099692.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53546.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGGCCTG	NONE	.	.	.	.	.	ENSP00000430706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000520547	Transcript	.	.	ENSG00000253626	17419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF5AL_HUMAN	EIF5AL1	HGNC	.	.	UPI00001972AD	SNV	EIF5AL1,3_prime_UTR_variant,,ENST00000520547,;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;	595	119	131	SUCCESS
SFTPA2	729238	.	GRCh37	10	81316141	81316141	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	39	0	ENST00000372325.2:c.*824T>G			ENST00000372325	NM_001098668.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41540.1	.	MUTECT|MUSE	.	AATAAAAGGGG	NONE	.	.	.	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,3_prime_UTR_variant,,ENST00000372325,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	1656	39	32	SUCCESS
CCDC62	84660	.	GRCh37	12	123311026	123311026	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs375300897	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	49	0	ENST00000253079.6:c.*98C>G			ENST00000253079	NM_201435.4			0	G:0.0002	.	.	.	.	G	.	protein_coding	YES	CCDS9238.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAACCGTAAA	NONE	byFrequency|byCluster	.	.	.	G:0.0006	ENSP00000253079	.	13/13	.	.	.	.	.	.	.	.	rs375300897	13/13	PASS	ENST00000253079	Transcript	.	.	ENSG00000130783	30723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD62_HUMAN	CCDC62	HGNC	.	.	UPI0000366924	SNV	CCDC62,3_prime_UTR_variant,,ENST00000537566,;CCDC62,3_prime_UTR_variant,,ENST00000392441,;CCDC62,3_prime_UTR_variant,,ENST00000253079,;CCDC62,3_prime_UTR_variant,,ENST00000392440,;CCDC62,3_prime_UTR_variant,,ENST00000341952,;	2497	49	50	SUCCESS
SPATA5L1	79029	.	GRCh37	15	45694355	45694355	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	12	0				ENST00000305560	NM_024063.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10123.1	.	RADIA|MUTECT|MUSE	.	AAGCCGCCTCC	NONE	.	174	.	.	.	ENSP00000305494	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000305560	Transcript	.	.	ENSG00000171763	28762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPA5L_HUMAN	SPATA5L1	HGNC	.	.	UPI00001AEDF3	SNV	GATM,5_prime_UTR_variant,,ENST00000561148,;SPATA5L1,upstream_gene_variant,,ENST00000305560,;SPATA5L1,upstream_gene_variant,,ENST00000559860,;GATM,non_coding_transcript_exon_variant,,ENST00000458245,;GATM,upstream_gene_variant,,ENST00000560538,;GATM,upstream_gene_variant,,ENST00000527933,;SPATA5L1,upstream_gene_variant,,ENST00000525552,;SPATA5L1,upstream_gene_variant,,ENST00000531970,;	.	12	11	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77317668	77317668	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs898818709	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	12	0	ENST00000282849.5:c.*185C>T			ENST00000282849	NM_199355.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10926.1	.	MUTECT|MUSE	.	ACCACGTGCTT	NONE	.	.	.	.	.	ENSP00000282849	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000282849	Transcript	.	.	ENSG00000140873	17110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,3_prime_UTR_variant,,ENST00000282849,;ADAMTS18,intron_variant,,ENST00000562332,;RP11-538I12.3,intron_variant,,ENST00000561672,;	4270	12	12	SUCCESS
FOXL1	2300	.	GRCh37	16	86614095	86614095	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	38	90	0	ENST00000320241.3:c.*728T>A			ENST00000320241	NM_005250.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10959.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACTTGACTC	NONE	.	.	.	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,3_prime_UTR_variant,,ENST00000320241,;FOXL1,downstream_gene_variant,,ENST00000593625,;	1981	90	67	SUCCESS
CD300LB	124599	.	GRCh37	17	72518830	72518830	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	50	0	ENST00000392621.1:c.*47G>C			ENST00000392621	NM_174892.3			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCTTCTG	NONE	.	.	.	.	.	ENSP00000376397	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392621	Transcript	.	.	ENSG00000178789	30811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLM7_HUMAN	CD300LB	HGNC	B4DQ71_HUMAN	.	UPI000013F7FE	SNV	CD300LB,3_prime_UTR_variant,,ENST00000392621,;CD300LB,downstream_gene_variant,,ENST00000314401,;	769	50	42	SUCCESS
ADM5	199800	.	GRCh37	19	50193828	50193828	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	13	33	0	ENST00000420022.3:c.*80del			ENST00000420022	NM_001101340.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46146.1	.	INDELOCATOR*|PINDEL	.	TCCGTGTTTCAG	NONE	.	.	.	.	.	ENSP00000393631	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000420022	Transcript	.	.	ENSG00000224420	27293	2	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADM5_HUMAN	ADM5	HGNC	.	.	UPI00001601D9	deletion	ADM5,3_prime_UTR_variant,,ENST00000420022,;CPT1C,upstream_gene_variant,,ENST00000602019,;CPT1C,upstream_gene_variant,,ENST00000598293,;CPT1C,upstream_gene_variant,,ENST00000323446,;PRMT1,downstream_gene_variant,,ENST00000391851,;CPT1C,upstream_gene_variant,,ENST00000595969,;CPT1C,upstream_gene_variant,,ENST00000594587,;CPT1C,upstream_gene_variant,,ENST00000392518,;CPT1C,upstream_gene_variant,,ENST00000354199,;PRMT1,downstream_gene_variant,,ENST00000532489,;PRMT1,downstream_gene_variant,,ENST00000454376,;CPT1C,upstream_gene_variant,,ENST00000598396,;CPT1C,upstream_gene_variant,,ENST00000405931,;CTB-33G10.6,non_coding_transcript_exon_variant,,ENST00000596472,;PRMT1,downstream_gene_variant,,ENST00000527866,;PRMT1,downstream_gene_variant,,ENST00000530361,;CPT1C,upstream_gene_variant,,ENST00000598714,;CPT1C,upstream_gene_variant,,ENST00000599023,;CPT1C,upstream_gene_variant,,ENST00000596922,;CPT1C,upstream_gene_variant,,ENST00000295404,;CPT1C,upstream_gene_variant,,ENST00000600944,;CPT1C,upstream_gene_variant,,ENST00000594038,;PRMT1,downstream_gene_variant,,ENST00000528126,;CPT1C,upstream_gene_variant,,ENST00000595568,;CPT1C,upstream_gene_variant,,ENST00000598259,;	1714	33	54	SUCCESS
MMACHC	25974	.	GRCh37	1	45962277	45962277	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs753864203	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	28	0				ENST00000401061	NM_015506.2	94		0	.	.	.	.	.	G	L/P	protein_coding	YES	.	281	RADIA|MUSE|VARSCANS	.	TCAGCAGCAGC	NONE	.	.	.	.	.	ENSP00000432622	.	4/4	.	.	.	.	.	.	.	.	rs753864203	4/4	PASS	ENST00000488405	Transcript	.	.	ENSG00000236624	27003	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.883)	.	deleterious_low_confidence(0)	.	.	CCDC163P	HGNC	E9PPK7_HUMAN	.	UPI000019722E	SNV	CCDC163P,missense_variant,p.Leu94Pro,ENST00000490551,;CCDC163P,missense_variant,p.Leu94Pro,ENST00000432082,;CCDC163P,missense_variant,p.Leu94Pro,ENST00000488405,;MMACHC,upstream_gene_variant,,ENST00000401061,;CCDC163P,non_coding_transcript_exon_variant,,ENST00000486476,;CCDC163P,non_coding_transcript_exon_variant,,ENST00000502793,;CCDC163P,missense_variant,p.Cys66Arg,ENST00000515561,;CCDC163P,missense_variant,p.Leu94Pro,ENST00000415578,;CCDC163P,synonymous_variant,p.%3D,ENST00000514299,;	525	28	38	SUCCESS
CCR9	10803	.	GRCh37	3	45944642	45944642	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	60	154	0	ENST00000357632.2:c.*1252G>T			ENST00000357632	NM_031200.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2732.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGCAATT	NONE	.	.	.	.	.	ENSP00000350256	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000357632	Transcript	.	.	ENSG00000173585	1610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR9_HUMAN	CCR9	HGNC	Q9UN87_HUMAN	.	UPI0000039DBB	SNV	CCR9,3_prime_UTR_variant,,ENST00000395963,;CCR9,3_prime_UTR_variant,,ENST00000357632,;LZTFL1,intron_variant,,ENST00000536047,;LZTFL1,intron_variant,,ENST00000539217,;CCR9,downstream_gene_variant,,ENST00000422395,;CCR9,downstream_gene_variant,,ENST00000355983,;Y_RNA,upstream_gene_variant,,ENST00000364765,;LZTFL1,intron_variant,,ENST00000472635,;LZTFL1,intron_variant,,ENST00000492333,;LZTFL1,intron_variant,,ENST00000483279,;LZTFL1,intron_variant,,ENST00000418700,;LZTFL1,intron_variant,,ENST00000448111,;	2542	154	164	SUCCESS
FIP1L1	81608	.	GRCh37	4	54325743	54325743	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs750952262	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	16	91	0	ENST00000337488.6:c.*127T>C			ENST00000337488	NM_030917.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3491.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAACTTTTTT	NONE	.	.	.	.	.	ENSP00000336752	.	18/18	.	.	.	.	.	.	.	.	rs750952262	18/18	PASS	ENST00000337488	Transcript	1	.	ENSG00000145216	19124	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FIP1_HUMAN	FIP1L1	HGNC	.	.	UPI0000035FBF	SNV	FIP1L1,3_prime_UTR_variant,,ENST00000358575,;FIP1L1,3_prime_UTR_variant,,ENST00000337488,;FIP1L1,3_prime_UTR_variant,,ENST00000306932,;LNX1,3_prime_UTR_variant,,ENST00000306888,;FIP1L1,3_prime_UTR_variant,,ENST00000504094,;FIP1L1,intron_variant,,ENST00000507166,;LNX1,downstream_gene_variant,,ENST00000263925,;FIP1L1,3_prime_UTR_variant,,ENST00000514543,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513008,;FIP1L1,downstream_gene_variant,,ENST00000507206,;	2106	91	103	SUCCESS
TRERF1	55809	.	GRCh37	6	42195958	42195958	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1431090774	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	9	0	ENST00000372922.4:c.*125T>C			ENST00000372922	NM_033502.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4867.1	.	MUTECT|MUSE|VARSCANS	.	CCTGAATAAAA	NONE	.	.	.	.	.	ENSP00000362013	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000372922	Transcript	.	.	ENSG00000124496	18273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TREF1_HUMAN	TRERF1	HGNC	.	.	UPI0000052952	SNV	TRERF1,3_prime_UTR_variant,,ENST00000541110,;TRERF1,3_prime_UTR_variant,,ENST00000340840,;TRERF1,3_prime_UTR_variant,,ENST00000372922,;TRERF1,3_prime_UTR_variant,,ENST00000372917,;TRERF1,3_prime_UTR_variant,,ENST00000354325,;	4291	9	19	SUCCESS
PTP4A3	11156	.	GRCh37	8	142443975	142443975	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	24	0				ENST00000329397				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6383.1	.	MUTECT|MUSE	.	AACCAAGCTCT	NONE	.	2581	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000430863,;	.	24	44	SUCCESS
TUSC3	7991	.	GRCh37	8	15621746	15621746	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs368017854	.	TCGA-CC-A3MC-01	TCGA-CC-A3MC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	109	382	0	ENST00000503731.1:c.*81T>A			ENST00000503731	NM_006765.3			0	G:0	.	.	.	.	A	.	protein_coding	YES	CCDS5994.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCATAAAGT	NONE	byCluster	.	.	.	G:0.0001	ENSP00000424544	.	11/11	.	.	.	.	.	.	.	.	rs368017854	11/11	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,3_prime_UTR_variant,,ENST00000506802,;TUSC3,3_prime_UTR_variant,,ENST00000382020,;TUSC3,3_prime_UTR_variant,,ENST00000503731,;TUSC3,non_coding_transcript_exon_variant,,ENST00000508446,;TUSC3,3_prime_UTR_variant,,ENST00000515859,;TUSC3,3_prime_UTR_variant,,ENST00000510836,;	1276	382	244	SUCCESS
REEP6	92840	.	GRCh37	19	1497287	1497287	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs764519376	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	5	103	0	ENST00000233596.3:c.*77G>T			ENST00000233596	NM_138393.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12070.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGTCTTC	NONE	.	.	.	.	.	ENSP00000233596	.	5/5	.	.	.	.	.	.	.	.	rs764519376	5/5	PASS	ENST00000233596	Transcript	.	.	ENSG00000115255	30078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	REEP6_HUMAN	REEP6	HGNC	.	.	UPI00000702E3	SNV	REEP6,3_prime_UTR_variant,,ENST00000395479,;REEP6,3_prime_UTR_variant,,ENST00000233596,;REEP6,3_prime_UTR_variant,,ENST00000395484,;REEP6,downstream_gene_variant,,ENST00000591735,;	736	103	55	SUCCESS
LCE3D	84648	.	GRCh37	1	152552054	152552054	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	29	0	ENST00000368787.3:c.*80T>C			ENST00000368787	NM_032563.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1014.1	.	MUTECT|MUSE	.	AACTCATGCAT	NONE	.	.	.	.	.	ENSP00000357776	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368787	Transcript	.	.	ENSG00000163202	16615	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCE3D_HUMAN	LCE3D	HGNC	.	.	UPI000006EC48	SNV	LCE3D,3_prime_UTR_variant,,ENST00000368787,;	416	29	30	SUCCESS
SRP9	6726	.	GRCh37	1	225977098	225977098	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	207	57	210	0	ENST00000304786.7:c.*37A>G			ENST00000304786	NM_003133.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1546.1	.	RADIA|MUSE|VARSCANS	.	TAGGAAGTAAA	NONE	.	.	.	.	.	ENSP00000305230	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304786	Transcript	.	.	ENSG00000143742	11304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRP09_HUMAN	SRP9	HGNC	Q8WVW9_HUMAN	.	UPI000011E3D2	SNV	SRP9,3_prime_UTR_variant,,ENST00000304786,;SRP9,3_prime_UTR_variant,,ENST00000366839,;SRP9,3_prime_UTR_variant,,ENST00000366838,;	410	210	265	SUCCESS
PCDHB10	56126	.	GRCh37	5	140579313	140579313	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	37	0				ENST00000239446	NM_018930.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4253.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGAAGCCT	NONE	.	35	.	.	.	ENSP00000346802	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354757	Transcript	.	.	ENSG00000197479	8682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBB_HUMAN	PCDHB11	HGNC	B4DSF7_HUMAN	.	UPI00001273E6	SNV	PCDHB11,5_prime_UTR_variant,,ENST00000536699,;PCDHB11,upstream_gene_variant,,ENST00000354757,;PCDHB10,downstream_gene_variant,,ENST00000239446,;	.	37	56	SUCCESS
EPHX2	2053	.	GRCh37	8	27402048	27402048	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs369372219	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	22	137	0	ENST00000521400.1:c.*9G>A			ENST00000521400	NM_001979.5			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS6060.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGTGTGC	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000430269	.	19/19	.	.	.	.	.	.	.	.	rs369372219	19/19	PASS	ENST00000521400	Transcript	.	.	ENSG00000120915	3402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HYES_HUMAN	EPHX2	HGNC	E5RI53_HUMAN	.	UPI0000073FE5	SNV	EPHX2,3_prime_UTR_variant,,ENST00000521780,;EPHX2,3_prime_UTR_variant,,ENST00000380476,;EPHX2,3_prime_UTR_variant,,ENST00000518379,;EPHX2,3_prime_UTR_variant,,ENST00000517536,;EPHX2,3_prime_UTR_variant,,ENST00000521400,;	2107	137	113	SUCCESS
TRPA1	8989	.	GRCh37	8	72935110	72935110	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	29	0	ENST00000262209.4:c.*31G>T			ENST00000262209	NM_007332.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34908.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCCCCATTA	NONE	.	.	.	.	.	ENSP00000262209	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,3_prime_UTR_variant,,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;TRPA1,intron_variant,,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;TRPA1,downstream_gene_variant,,ENST00000520596,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;	3599	29	49	SUCCESS
TRPA1	8989	.	GRCh37	8	72935111	72935111	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A5UC-01	TCGA-CC-A5UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	30	0	ENST00000262209.4:c.*30G>A			ENST00000262209	NM_007332.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34908.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCCATTAG	NONE	.	.	.	.	.	ENSP00000262209	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000262209	Transcript	1	.	ENSG00000104321	497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRPA1_HUMAN	TRPA1	HGNC	.	.	UPI000021081A	SNV	TRPA1,3_prime_UTR_variant,,ENST00000262209,;RP11-383H13.1,intron_variant,,ENST00000537896,;TRPA1,intron_variant,,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;TRPA1,downstream_gene_variant,,ENST00000520596,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;	3598	30	51	SUCCESS
IL15RA	3601	.	GRCh37	10	5995018	5995018	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	31	54	1	ENST00000379977.3:c.*40A>T			ENST00000379977				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7074.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTCCTTC	NONE	.	.	.	.	.	ENSP00000369312	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000379977	Transcript	.	.	ENSG00000134470	5978	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I15RA_HUMAN	IL15RA	HGNC	.	.	UPI0000073D71	SNV	IL15RA,3_prime_UTR_variant,,ENST00000532039,;IL15RA,3_prime_UTR_variant,,ENST00000528354,;IL15RA,3_prime_UTR_variant,,ENST00000397251,;IL15RA,3_prime_UTR_variant,,ENST00000447291,;IL15RA,3_prime_UTR_variant,,ENST00000525219,;IL15RA,3_prime_UTR_variant,,ENST00000397248,;IL15RA,3_prime_UTR_variant,,ENST00000379977,;IL15RA,3_prime_UTR_variant,,ENST00000397250,;IL15RA,intron_variant,,ENST00000435171,;IL15RA,downstream_gene_variant,,ENST00000379971,;IL15RA,downstream_gene_variant,,ENST00000397246,;IL15RA,downstream_gene_variant,,ENST00000530685,;IL15RA,downstream_gene_variant,,ENST00000397255,;IL15RA,non_coding_transcript_exon_variant,,ENST00000379972,;IL15RA,non_coding_transcript_exon_variant,,ENST00000379974,;IL15RA,non_coding_transcript_exon_variant,,ENST00000534292,;IL15RA,non_coding_transcript_exon_variant,,ENST00000532948,;	942	55	100	SUCCESS
ZNF195	7748	.	GRCh37	11	3400424	3400424	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	20	0				ENST00000399602	NM_001130520.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44522.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTCTCCTC	NONE	.	27	.	.	.	ENSP00000382511	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000399602	Transcript	.	.	ENSG00000005801	12986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN195_HUMAN	ZNF195	HGNC	.	.	UPI0000D6258D	SNV	ZNF195,5_prime_UTR_variant,,ENST00000429541,;ZNF195,5_prime_UTR_variant,,ENST00000532539,;ZNF195,upstream_gene_variant,,ENST00000528410,;ZNF195,upstream_gene_variant,,ENST00000526601,;ZNF195,upstream_gene_variant,,ENST00000528796,;ZNF195,upstream_gene_variant,,ENST00000438262,;ZNF195,upstream_gene_variant,,ENST00000354599,;ZNF195,upstream_gene_variant,,ENST00000529678,;ZNF195,upstream_gene_variant,,ENST00000525502,;ZNF195,upstream_gene_variant,,ENST00000534569,;ZNF195,upstream_gene_variant,,ENST00000533036,;ZNF195,upstream_gene_variant,,ENST00000399602,;ZNF195,upstream_gene_variant,,ENST00000005082,;ZNF195,upstream_gene_variant,,ENST00000427810,;ZNF195,upstream_gene_variant,,ENST00000527386,;TSSC2,upstream_gene_variant,,ENST00000526284,;TSSC2,upstream_gene_variant,,ENST00000526488,;TSSC2,upstream_gene_variant,,ENST00000530366,;ZNF195,upstream_gene_variant,,ENST00000524857,;TSSC2,upstream_gene_variant,,ENST00000529482,;TSSC2,upstream_gene_variant,,ENST00000533775,;ZNF195,upstream_gene_variant,,ENST00000330692,;ZNF195,upstream_gene_variant,,ENST00000530643,;ZNF195,upstream_gene_variant,,ENST00000526501,;ZNF195,upstream_gene_variant,,ENST00000528218,;ZNF195,upstream_gene_variant,,ENST00000525313,;ZNF195,upstream_gene_variant,,ENST00000529085,;	.	20	19	SUCCESS
OR5AL1	79482	.	GRCh37	11	56185421	56185421	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	102	1				ENST00000440231		96		0	.	.	.	.	.	T	A	protein_coding	YES	CCDS31530.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAAGCATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000308595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312253	Transcript	.	.	ENSG00000174942	14841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5R1_HUMAN	OR5R1	HGNC	.	.	UPI000004B225	SNV	OR5R1,synonymous_variant,p.%3D,ENST00000312253,;OR5AL1,downstream_gene_variant,,ENST00000327258,;OR5AL1,downstream_gene_variant,,ENST00000440231,;	288	103	86	SUCCESS
SMARCC2	6601	.	GRCh37	12	56557444	56557444	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	31	0	ENST00000267064.4:c.*29C>A			ENST00000267064	NM_003075.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8907.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGGTGAGG	NONE	.	.	.	.	.	ENSP00000267064	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000267064	Transcript	.	.	ENSG00000139613	11105	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SMRC2_HUMAN	SMARCC2	HGNC	F8VZW6_HUMAN	.	UPI0000071C4E	SNV	SMARCC2,3_prime_UTR_variant,,ENST00000267064,;SMARCC2,3_prime_UTR_variant,,ENST00000394023,;SMARCC2,3_prime_UTR_variant,,ENST00000347471,;SMARCC2,3_prime_UTR_variant,,ENST00000550164,;MYL6,downstream_gene_variant,,ENST00000547408,;MYL6,downstream_gene_variant,,ENST00000547649,;MYL6,downstream_gene_variant,,ENST00000548293,;MYL6,downstream_gene_variant,,ENST00000348108,;MYL6,downstream_gene_variant,,ENST00000549566,;MYL6,downstream_gene_variant,,ENST00000550697,;MYL6,downstream_gene_variant,,ENST00000549392,;MYL6,downstream_gene_variant,,ENST00000548580,;MYL6,downstream_gene_variant,,ENST00000549017,;MYL6,downstream_gene_variant,,ENST00000548400,;MYL6,downstream_gene_variant,,ENST00000293422,;MYL6,downstream_gene_variant,,ENST00000536128,;MYL6,downstream_gene_variant,,ENST00000551589,;RP11-977G19.5,intron_variant,,ENST00000553176,;MYL6B,downstream_gene_variant,,ENST00000548571,;MYL6,downstream_gene_variant,,ENST00000550639,;MYL6,downstream_gene_variant,,ENST00000552297,;MYL6,downstream_gene_variant,,ENST00000551954,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;MYL6,downstream_gene_variant,,ENST00000546630,;MYL6,downstream_gene_variant,,ENST00000550184,;MYL6,downstream_gene_variant,,ENST00000548725,;MYL6,downstream_gene_variant,,ENST00000546845,;MYL6,downstream_gene_variant,,ENST00000547703,;	3761	31	27	SUCCESS
PPIB	5479	.	GRCh37	15	64448165	64448165	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	23	48	0	ENST00000300026.3:c.*57A>T			ENST00000300026	NM_000942.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10191.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCCCTGTGGC	NONE	.	.	.	.	.	ENSP00000300026	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000300026	Transcript	1	.	ENSG00000166794	9255	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPIB_HUMAN	PPIB	HGNC	.	.	UPI0000072333	SNV	PPIB,3_prime_UTR_variant,,ENST00000300026,;SNX22,3_prime_UTR_variant,,ENST00000325881,;PPIB,downstream_gene_variant,,ENST00000558492,;SNX22,non_coding_transcript_exon_variant,,ENST00000557789,;SNX22,non_coding_transcript_exon_variant,,ENST00000560997,;SNX22,downstream_gene_variant,,ENST00000560945,;SNX22,downstream_gene_variant,,ENST00000560607,;SNX22,downstream_gene_variant,,ENST00000561334,;PPIB,downstream_gene_variant,,ENST00000561048,;SNX22,downstream_gene_variant,,ENST00000558466,;	927	48	26	SUCCESS
ANKRD29	147463	.	GRCh37	18	21181167	21181167	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs758305718	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	87	0	ENST00000592179.1:c.*23A>T			ENST00000592179	NM_173505.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11879.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTATCTTTCTG	NONE	.	.	.	.	.	ENSP00000468354	.	10/10	.	.	.	.	.	.	.	.	rs758305718	10/10	PASS	ENST00000592179	Transcript	.	.	ENSG00000154065	27110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR29_HUMAN	ANKRD29	HGNC	.	.	UPI00001618ED	SNV	ANKRD29,3_prime_UTR_variant,,ENST00000284207,;ANKRD29,3_prime_UTR_variant,,ENST00000592179,;ANKRD29,3_prime_UTR_variant,,ENST00000322980,;ANKRD29,3_prime_UTR_variant,,ENST00000587763,;ANKRD29,non_coding_transcript_exon_variant,,ENST00000591280,;ANKRD29,downstream_gene_variant,,ENST00000591617,;	1084	87	69	SUCCESS
SPOCD1	90853	.	GRCh37	1	32256132	32256132	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	34	82	0	ENST00000360482.2:c.*72G>T			ENST00000360482	NM_144569.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS347.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCAGTCCCACC	NONE	.	.	.	.	.	ENSP00000353670	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000360482	Transcript	.	.	ENSG00000134668	26338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPOC1_HUMAN	SPOCD1	HGNC	E9PMX0_HUMAN,E9PKC3_HUMAN	.	UPI000035E7DD	SNV	SPOCD1,3_prime_UTR_variant,,ENST00000452755,;SPOCD1,3_prime_UTR_variant,,ENST00000373648,;SPOCD1,3_prime_UTR_variant,,ENST00000257100,;SPOCD1,3_prime_UTR_variant,,ENST00000360482,;SPOCD1,3_prime_UTR_variant,,ENST00000533231,;SPOCD1,downstream_gene_variant,,ENST00000528579,;RP11-84A19.3,intron_variant,,ENST00000527035,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000473361,;SPOCD1,downstream_gene_variant,,ENST00000485944,;SPOCD1,downstream_gene_variant,,ENST00000460061,;SPOCD1,downstream_gene_variant,,ENST00000532604,;SPOCD1,downstream_gene_variant,,ENST00000468720,;SPOCD1,downstream_gene_variant,,ENST00000531039,;	3853	82	58	SUCCESS
LZTS3	9762	.	GRCh37	20	3145067	3145067	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	31	85	0	ENST00000329152.3:c.*33C>G			ENST00000329152	NM_014731.2			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGACATG	NONE	.	.	.	.	.	ENSP00000332123	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	SNV	LZTS3,3_prime_UTR_variant,,ENST00000329152,;LZTS3,3_prime_UTR_variant,,ENST00000360342,;LZTS3,3_prime_UTR_variant,,ENST00000337576,;UBOX5,upstream_gene_variant,,ENST00000217173,;UBOX5,upstream_gene_variant,,ENST00000449731,;UBOX5,upstream_gene_variant,,ENST00000348031,;FASTKD5,upstream_gene_variant,,ENST00000380266,;	3453	85	53	SUCCESS
CSF2RB	1439	.	GRCh37	22	37334599	37334599	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	27	0	ENST00000403662.3:c.*55C>A			ENST00000403662				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13936.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCCTGACC	NONE	.	.	.	.	.	ENSP00000384053	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000403662	Transcript	.	.	ENSG00000100368	2436	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL3RB_HUMAN	CSF2RB	HGNC	B0QY07_HUMAN	.	UPI0000128C9F	SNV	CSF2RB,3_prime_UTR_variant,,ENST00000536485,;CSF2RB,3_prime_UTR_variant,,ENST00000406230,;CSF2RB,3_prime_UTR_variant,,ENST00000403662,;CSF2RB,3_prime_UTR_variant,,ENST00000262825,;	2971	27	18	SUCCESS
NPR3	4883	.	GRCh37	5	32791392	32791392	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	160	110	1	ENST00000265074.8:c.*4941A>T			ENST00000265074	NM_001204375.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56357.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCAAGAGGA	NONE	.	.	.	.	.	ENSP00000265074	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,3_prime_UTR_variant,,ENST00000265074,;AC026703.1,3_prime_UTR_variant,,ENST00000326958,;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415167,;NPR3,downstream_gene_variant,,ENST00000415685,;	6910	111	225	SUCCESS
DGKI	9162	.	GRCh37	7	137075901	137075901	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	30	0	ENST00000288490.5:c.*65A>T			ENST00000288490	NM_004717.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5845.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGCCCA	NONE	.	.	.	.	.	ENSP00000288490	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,3_prime_UTR_variant,,ENST00000453654,;DGKI,3_prime_UTR_variant,,ENST00000288490,;DGKI,3_prime_UTR_variant,,ENST00000424189,;DGKI,3_prime_UTR_variant,,ENST00000446122,;DGKI,non_coding_transcript_exon_variant,,ENST00000494390,;DGKI,non_coding_transcript_exon_variant,,ENST00000477835,;DGKI,non_coding_transcript_exon_variant,,ENST00000497321,;DGKI,non_coding_transcript_exon_variant,,ENST00000486153,;	3264	30	31	SUCCESS
PEG10	23089	.	GRCh37	7	94296716	94296716	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	54	0	ENST00000482108.1:c.*2870A>T			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTAACGGTG	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	4327	54	50	SUCCESS
OXR1	55074	.	GRCh37	8	107763248	107763248	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	19	0	ENST00000442977.2:c.*79A>G			ENST00000442977	NM_001198532.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56548.1	.	MUTECT|MUSE	.	AAGCAATACAG	NONE	.	.	.	.	.	ENSP00000405424	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000442977	Transcript	.	.	ENSG00000164830	15822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OXR1_HUMAN	OXR1	HGNC	E9PLW2_HUMAN	.	UPI0001914BEA	SNV	OXR1,3_prime_UTR_variant,,ENST00000442977,;OXR1,3_prime_UTR_variant,,ENST00000312046,;OXR1,3_prime_UTR_variant,,ENST00000519415,;OXR1,3_prime_UTR_variant,,ENST00000445937,;OXR1,3_prime_UTR_variant,,ENST00000531443,;OXR1,3_prime_UTR_variant,,ENST00000452423,;OXR1,3_prime_UTR_variant,,ENST00000517566,;OXR1,3_prime_UTR_variant,,ENST00000449762,;OXR1,3_prime_UTR_variant,,ENST00000297447,;OXR1,3_prime_UTR_variant,,ENST00000521592,;OXR1,3_prime_UTR_variant,,ENST00000435082,;	2803	19	33	SUCCESS
FAM49B	0	.	GRCh37	8	130854358	130854358	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs376567124	.	TCGA-CC-A5UD-01	TCGA-CC-A5UD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	26	43	0	ENST00000519824.2:c.*30A>T			ENST00000519824	NM_016623.4			0	C:0	.	.	.	.	A	.	protein_coding	YES	CCDS6361.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGTCTA	NONE	byCluster	.	.	.	C:0.0001	ENSP00000429150	.	12/12	.	.	.	.	.	.	.	.	rs376567124	12/12	PASS	ENST00000519824	Transcript	.	.	ENSG00000153310	25216	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA49B_HUMAN	FAM49B	HGNC	Q9NW21_HUMAN,E5RK81_HUMAN,E5RK61_HUMAN,E5RJL8_HUMAN,E5RJE1_HUMAN,E5RIR8_HUMAN,E5RHU5_HUMAN,E5RH75_HUMAN,E5RGI7_HUMAN,E5RFS4_HUMAN	.	UPI0000073D89	SNV	FAM49B,3_prime_UTR_variant,,ENST00000522250,;FAM49B,3_prime_UTR_variant,,ENST00000523509,;FAM49B,3_prime_UTR_variant,,ENST00000519824,;FAM49B,3_prime_UTR_variant,,ENST00000517654,;FAM49B,3_prime_UTR_variant,,ENST00000401979,;FAM49B,3_prime_UTR_variant,,ENST00000519540,;FAM49B,3_prime_UTR_variant,,ENST00000522746,;FAM49B,3_prime_UTR_variant,,ENST00000522941,;FAM49B,3_prime_UTR_variant,,ENST00000519110,;RP11-473O4.5,intron_variant,,ENST00000524100,;FAM49B,non_coding_transcript_exon_variant,,ENST00000520887,;FAM49B,non_coding_transcript_exon_variant,,ENST00000523288,;	1279	43	111	SUCCESS
CARD16	114769	.	GRCh37	11	104916052	104916052	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs770925463	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	30	91	0				ENST00000375706	NM_001017534.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31661.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTGGGCTG	NONE	.	10	.	.	.	ENSP00000364858	.	.	.	.	.	.	.	.	.	.	rs770925463	.	PASS	ENST00000375706	Transcript	.	.	ENSG00000204397	33701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAR16_HUMAN	CARD16	HGNC	E9PQW1_HUMAN	.	UPI00004C9CE7	SNV	CARD16,5_prime_UTR_variant,,ENST00000375704,;CASP1,intron_variant,,ENST00000415981,;CASP1,intron_variant,,ENST00000598974,;CASP1,intron_variant,,ENST00000593315,;CARD16,intron_variant,,ENST00000525374,;CASP1,intron_variant,,ENST00000594519,;CARD16,upstream_gene_variant,,ENST00000375706,;CARD16,upstream_gene_variant,,ENST00000528513,;CARD16,upstream_gene_variant,,ENST00000527065,;	.	91	104	SUCCESS
MC1R	4157	.	GRCh37	16	89986651	89986651	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	56	250	1	ENST00000555147.1:c.*31G>T			ENST00000555147	NM_002386.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56011.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGCAGAG	NONE	.	.	.	.	.	ENSP00000451605	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000555147	Transcript	.	.	ENSG00000258839	6929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSHR_HUMAN	MC1R	HGNC	Q1JUL4_HUMAN	.	UPI00000622C3	SNV	MC1R,3_prime_UTR_variant,,ENST00000555147,;MC1R,intron_variant,,ENST00000555427,;TUBB3,intron_variant,,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000315491,;TUBB3,upstream_gene_variant,,ENST00000556565,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000555576,;RP11-566K11.4,non_coding_transcript_exon_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000553656,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000554927,;TUBB3,upstream_gene_variant,,ENST00000557262,;AC092143.1,non_coding_transcript_exon_variant,,ENST00000540694,;	2365	251	79	SUCCESS
ZNF99	7652	.	GRCh37	19	22939139	22939139	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs540429316	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	54	0				ENST00000596209	NM_001080409.2			0	.	A:0.0431	.	A:0.0014	.	A	.	protein_coding	YES	CCDS59369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGAGGACTG	NONE	byFrequency|by1000G	977	.	A:0.002	.	ENSP00000472969	A:0	.	.	.	.	.	.	.	.	.	rs540429316	.	PASS	ENST00000596209	Transcript	.	A:0.0120	ENSG00000213973	13175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,synonymous_variant,p.%3D,ENST00000397104,;ZNF99,downstream_gene_variant,,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	.	54	29	SUCCESS
IGFL4	444882	.	GRCh37	19	46543134	46543134	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	107	0	ENST00000377697.1:c.*16C>T			ENST00000377697	NM_001002923.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33057.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCTGCTACC	NONE	.	.	.	.	.	ENSP00000366926	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377697	Transcript	.	.	ENSG00000204869	32931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFL4_HUMAN	IGFL4	HGNC	M0QYY9_HUMAN	.	UPI00003FF1E1	SNV	IGFL4,3_prime_UTR_variant,,ENST00000601672,;IGFL4,3_prime_UTR_variant,,ENST00000377697,;IGFL4,downstream_gene_variant,,ENST00000595006,;	445	107	75	SUCCESS
ZNF343	79175	.	GRCh37	20	2463696	2463696	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	17	0	ENST00000278772.4:c.*111G>T			ENST00000278772	NM_024325.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13028.1	.	MUTECT|MUSE	.	TCACTCACAAT	NONE	.	.	.	.	.	ENSP00000278772	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000278772	Transcript	.	.	ENSG00000088876	16017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN343_HUMAN	ZNF343	HGNC	.	.	UPI000013DB8F	SNV	ZNF343,3_prime_UTR_variant,,ENST00000278772,;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;RP4-734P14.4,intron_variant,,ENST00000461548,;	2399	17	19	SUCCESS
RNF24	11237	.	GRCh37	20	3914660	3914660	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs777694513	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	42	1	ENST00000336095.6:c.*50A>T			ENST00000336095	NM_007219.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46577.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGGCTC	NONE	byFrequency	.	.	.	.	ENSP00000388550	.	6/6	.	.	.	.	.	.	.	.	rs777694513	6/6	PASS	ENST00000432261	Transcript	.	.	ENSG00000101236	13779	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RNF24_HUMAN	RNF24	HGNC	.	.	UPI0000206960	SNV	RNF24,3_prime_UTR_variant,,ENST00000358395,;RNF24,3_prime_UTR_variant,,ENST00000432261,;RNF24,3_prime_UTR_variant,,ENST00000336095,;RNF24,3_prime_UTR_variant,,ENST00000545616,;	560	43	45	SUCCESS
HRH1	3269	.	GRCh37	3	11303588	11303588	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	96	0	ENST00000397056.1:c.*1401A>T			ENST00000397056	NM_000861.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2604.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGTATTCCC	NONE	.	.	.	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,3_prime_UTR_variant,,ENST00000431010,;HRH1,3_prime_UTR_variant,,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;HRH1,downstream_gene_variant,,ENST00000438284,;	3056	96	52	SUCCESS
MRAP2	112609	.	GRCh37	6	84799248	84799248	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	31	0	ENST00000257776.4:c.*48T>C			ENST00000257776	NM_138409.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5001.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTTATGTA	NONE	.	.	.	.	.	ENSP00000257776	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000257776	Transcript	.	.	ENSG00000135324	21232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRAP2_HUMAN	MRAP2	HGNC	.	.	UPI0000074376	SNV	MRAP2,3_prime_UTR_variant,,ENST00000257776,;	801	31	37	SUCCESS
PLEKHF2	79666	.	GRCh37	8	96167733	96167733	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	19	0	ENST00000315367.3:c.*711T>C			ENST00000315367	NM_024613.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6267.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTTTGTTT	NONE	.	.	.	.	.	ENSP00000322373	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315367	Transcript	.	.	ENSG00000175895	20757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHF2_HUMAN	PLEKHF2	HGNC	.	.	UPI0000035DB0	SNV	PLEKHF2,3_prime_UTR_variant,,ENST00000315367,;PLEKHF2,downstream_gene_variant,,ENST00000519516,;	1702	19	20	SUCCESS
FAM47A	158724	.	GRCh37	X	34148006	34148006	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	7	78	0	ENST00000346193.3:c.*14T>C			ENST00000346193	NM_203408.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43926.1	.	MUTECT|MUSE|VARSCANS	.	GTAGTAAATTG	NONE	.	.	.	.	.	ENSP00000345029	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000346193	Transcript	.	.	ENSG00000185448	29962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA47A_HUMAN	FAM47A	HGNC	.	.	UPI000013F1F4	SNV	FAM47A,3_prime_UTR_variant,,ENST00000346193,;	2442	78	92	SUCCESS
FAM46D	0	.	GRCh37	X	79700160	79700160	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A5UE-01	TCGA-CC-A5UE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	68	49	0	ENST00000538312.1:c.*952A>G			ENST00000538312	NM_001170574.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14446.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATATTTTC	NONE	.	.	.	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,3_prime_UTR_variant,,ENST00000308293,;FAM46D,3_prime_UTR_variant,,ENST00000538312,;	2456	50	79	SUCCESS
ALG9	79796	.	GRCh37	11	111657080	111657080	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	84	0	ENST00000531154.1:c.*41T>C			ENST00000531154	NM_024740.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41714.1	.	RADIA|MUTECT|MUSE	.	TCAATAGTTAA	NONE	.	.	.	.	.	ENSP00000435517	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000531154	Transcript	.	.	ENSG00000086848	15672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALG9_HUMAN	ALG9	HGNC	.	.	UPI000058E4B0	SNV	ALG9,3_prime_UTR_variant,,ENST00000531154,;ALG9,3_prime_UTR_variant,,ENST00000398006,;ALG9,intron_variant,,ENST00000532425,;ALG9,non_coding_transcript_exon_variant,,ENST00000527228,;ALG9,non_coding_transcript_exon_variant,,ENST00000532374,;ALG9,non_coding_transcript_exon_variant,,ENST00000526272,;ALG9,non_coding_transcript_exon_variant,,ENST00000527212,;ALG9,non_coding_transcript_exon_variant,,ENST00000524457,;ALG9,3_prime_UTR_variant,,ENST00000524880,;ALG9,3_prime_UTR_variant,,ENST00000525910,;ALG9,3_prime_UTR_variant,,ENST00000524671,;	1858	84	97	SUCCESS
ALG9	79796	.	GRCh37	11	111657084	111657084	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	23	88	0	ENST00000531154.1:c.*37T>C			ENST00000531154	NM_024740.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41714.1	.	RADIA|MUTECT|MUSE	.	TAGTTAACAAG	NONE	.	.	.	.	.	ENSP00000435517	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000531154	Transcript	.	.	ENSG00000086848	15672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ALG9_HUMAN	ALG9	HGNC	.	.	UPI000058E4B0	SNV	ALG9,3_prime_UTR_variant,,ENST00000531154,;ALG9,3_prime_UTR_variant,,ENST00000398006,;ALG9,intron_variant,,ENST00000532425,;ALG9,non_coding_transcript_exon_variant,,ENST00000527228,;ALG9,non_coding_transcript_exon_variant,,ENST00000532374,;ALG9,non_coding_transcript_exon_variant,,ENST00000526272,;ALG9,non_coding_transcript_exon_variant,,ENST00000527212,;ALG9,non_coding_transcript_exon_variant,,ENST00000524457,;ALG9,3_prime_UTR_variant,,ENST00000524880,;ALG9,3_prime_UTR_variant,,ENST00000525910,;ALG9,3_prime_UTR_variant,,ENST00000524671,;	1854	88	97	SUCCESS
SRSF9	8683	.	GRCh37	12	120899625	120899625	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	12	0	ENST00000229390.3:c.*197T>G			ENST00000229390	NM_003769.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9199.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAAAACCAC	NONE	.	.	.	.	.	ENSP00000229390	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000229390	Transcript	.	.	ENSG00000111786	10791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRSF9_HUMAN	SRSF9	HGNC	.	.	UPI00001358C4	SNV	SRSF9,3_prime_UTR_variant,,ENST00000229390,;GATC,downstream_gene_variant,,ENST00000229384,;GATC,downstream_gene_variant,,ENST00000551765,;SRSF9,downstream_gene_variant,,ENST00000550458,;AL021546.6,downstream_gene_variant,,ENST00000551806,;SRSF9,3_prime_UTR_variant,,ENST00000603963,;SRSF9,non_coding_transcript_exon_variant,,ENST00000548792,;SRSF9,non_coding_transcript_exon_variant,,ENST00000548326,;SRSF9,downstream_gene_variant,,ENST00000546942,;GATC,downstream_gene_variant,,ENST00000548171,;	1047	12	19	SUCCESS
YARS2	51067	.	GRCh37	12	32899995	32899995	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	28	0	ENST00000324868.8:c.*143T>C			ENST00000324868	NM_001040436.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31770.1	.	RADIA|MUTECT|MUSE	.	AAAATAATGAA	NONE	.	.	.	.	.	ENSP00000320658	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000324868	Transcript	.	.	ENSG00000139131	24249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYYM_HUMAN	YARS2	HGNC	.	.	UPI0000046058	SNV	YARS2,3_prime_UTR_variant,,ENST00000324868,;DNM1L,downstream_gene_variant,,ENST00000547312,;DNM1L,downstream_gene_variant,,ENST00000266481,;DNM1L,downstream_gene_variant,,ENST00000381000,;DNM1L,downstream_gene_variant,,ENST00000452533,;DNM1L,downstream_gene_variant,,ENST00000414834,;DNM1L,downstream_gene_variant,,ENST00000549701,;DNM1L,downstream_gene_variant,,ENST00000358214,;DNM1L,downstream_gene_variant,,ENST00000553257,;YARS2,intron_variant,,ENST00000551673,;YARS2,downstream_gene_variant,,ENST00000548490,;DNM1L,downstream_gene_variant,,ENST00000546649,;DNM1L,downstream_gene_variant,,ENST00000553031,;DNM1L,downstream_gene_variant,,ENST00000546757,;DNM1L,downstream_gene_variant,,ENST00000547640,;	1605	28	36	SUCCESS
ZFC3H1	196441	.	GRCh37	12	72004119	72004120	+	3_prime_UTR_variant	3'UTR	INS	-	-	TAAG	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	33	0	ENST00000378743.3:c.*88_*89insCTTA			ENST00000378743	NM_144982.4			0	.	.	.	.	.	TAAG	.	protein_coding	YES	CCDS41813.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGACCTTAG	NONE	.	.	.	.	.	ENSP00000368017	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000378743	Transcript	.	.	ENSG00000133858	28328	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZC3H1_HUMAN	ZFC3H1	HGNC	.	.	UPI00003668E9	insertion	ZFC3H1,3_prime_UTR_variant,,ENST00000378743,;ZFC3H1,3_prime_UTR_variant,,ENST00000552994,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000550963,;ZFC3H1,downstream_gene_variant,,ENST00000546771,;ZFC3H1,downstream_gene_variant,,ENST00000546475,;ZFC3H1,downstream_gene_variant,,ENST00000551487,;ZFC3H1,downstream_gene_variant,,ENST00000547398,;	6417-6418	33	38	SUCCESS
MRP63	0	.	GRCh37	13	21752065	21752065	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1032117209	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	33	0	ENST00000309594.4:c.*701C>T			ENST00000309594	NM_024026.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9296.1	.	MUTECT|MUSE	.	GGTTGCAGTGA	NONE	.	.	.	.	.	ENSP00000310726	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309594	Transcript	.	.	ENSG00000173141	14514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RT63_HUMAN	MRP63	HGNC	.	.	UPI000004C5AC	SNV	MRP63,3_prime_UTR_variant,,ENST00000309594,;SKA3,upstream_gene_variant,,ENST00000314759,;SKA3,upstream_gene_variant,,ENST00000400018,;SKA3,upstream_gene_variant,,ENST00000475251,;SKA3,upstream_gene_variant,,ENST00000465471,;SKA3,upstream_gene_variant,,ENST00000462482,;SKA3,upstream_gene_variant,,ENST00000298260,;	1088	33	40	SUCCESS
CCNA1	8900	.	GRCh37	13	37016951	37016951	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	20	0	ENST00000255465.4:c.*149T>C			ENST00000255465				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9357.1	.	MUTECT|MUSE	.	AGACTTTAGTA	NONE	.	.	.	.	.	ENSP00000255465	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000255465	Transcript	.	.	ENSG00000133101	1577	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCNA1_HUMAN	CCNA1	HGNC	Q9UNG8_HUMAN,F6KX25_HUMAN	.	UPI000012759F	SNV	CCNA1,3_prime_UTR_variant,,ENST00000418263,;CCNA1,3_prime_UTR_variant,,ENST00000255465,;CCNA1,3_prime_UTR_variant,,ENST00000449823,;CCNA1,3_prime_UTR_variant,,ENST00000440264,;	1811	20	35	SUCCESS
TRIM13	10206	.	GRCh37	13	50590444	50590444	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	40	143	0	ENST00000378182.3:c.*3149del			ENST00000378182	NM_213590.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41888.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCAGAAAAAA	NONE	.	3128	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	deletion	TRIM13,3_prime_UTR_variant,,ENST00000378182,;KCNRG,intron_variant,,ENST00000360473,;KCNRG,intron_variant,,ENST00000312942,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,downstream_gene_variant,,ENST00000298772,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	143	186	SUCCESS
IPO5	3843	.	GRCh37	13	98674163	98674163	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	12	0	ENST00000357602.3:c.*87A>G			ENST00000357602				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31999.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAAAAGAGA	NONE	.	.	.	.	.	ENSP00000261574	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000261574	Transcript	.	.	ENSG00000065150	6402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPO5_HUMAN	IPO5	HGNC	Q9BVS9_HUMAN,E7EX05_HUMAN,E7EWK4_HUMAN,E7ETV3_HUMAN,E7ESZ1_HUMAN,E7ESA1_HUMAN,C9JZD8_HUMAN,C9JZ53_HUMAN,C9JXE0_HUMAN,C9JQT6_HUMAN,C9J875_HUMAN,B3KWG6_HUMAN	.	UPI0000163C1C	SNV	IPO5,3_prime_UTR_variant,,ENST00000261574,;IPO5,3_prime_UTR_variant,,ENST00000469360,;IPO5,3_prime_UTR_variant,,ENST00000357602,;IPO5,downstream_gene_variant,,ENST00000490680,;IPO5,downstream_gene_variant,,ENST00000539640,;IPO5,non_coding_transcript_exon_variant,,ENST00000491555,;IPO5,downstream_gene_variant,,ENST00000493122,;IPO5,downstream_gene_variant,,ENST00000468620,;	3615	12	23	SUCCESS
C14orf80	0	.	GRCh37	14	105965392	105965392	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	16	0	ENST00000392522.3:c.*109G>A			ENST00000392522	NM_001134875.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45181.1	.	MUTECT|MUSE	.	ATGCAGAGCCC	NONE	.	.	.	.	.	ENSP00000376307	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000392522	Transcript	.	.	ENSG00000185347	20127	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CN080_HUMAN	C14orf80	HGNC	C9JZ80_HUMAN,C9J1F2_HUMAN	.	UPI00017FB9D4	SNV	C14orf80,3_prime_UTR_variant,,ENST00000392523,;C14orf80,3_prime_UTR_variant,,ENST00000329886,;C14orf80,3_prime_UTR_variant,,ENST00000392527,;C14orf80,3_prime_UTR_variant,,ENST00000334656,;C14orf80,3_prime_UTR_variant,,ENST00000392522,;C14orf80,3_prime_UTR_variant,,ENST00000354560,;C14orf80,downstream_gene_variant,,ENST00000432805,;C14orf80,downstream_gene_variant,,ENST00000421892,;C14orf80,downstream_gene_variant,,ENST00000450383,;C14orf80,downstream_gene_variant,,ENST00000455454,;C14orf80,downstream_gene_variant,,ENST00000551054,;C14orf80,3_prime_UTR_variant,,ENST00000548920,;C14orf80,non_coding_transcript_exon_variant,,ENST00000551538,;C14orf80,non_coding_transcript_exon_variant,,ENST00000546492,;C14orf80,downstream_gene_variant,,ENST00000463869,;C14orf80,downstream_gene_variant,,ENST00000546536,;	1517	16	36	SUCCESS
SNW1	22938	.	GRCh37	14	78183961	78183961	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	6	65	0	ENST00000261531.7:c.*470A>C			ENST00000261531	NM_012245.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9867.1	.	MUTECT|MUSE|VARSCANS	.	TTTTATTTGAA	NONE	.	.	.	.	.	ENSP00000261531	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,3_prime_UTR_variant,,ENST00000261531,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557623,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,downstream_gene_variant,,ENST00000557342,;SLIRP,downstream_gene_variant,,ENST00000238688,;SNW1,downstream_gene_variant,,ENST00000554775,;SNW1,downstream_gene_variant,,ENST00000555761,;SLIRP,downstream_gene_variant,,ENST00000556831,;SLIRP,downstream_gene_variant,,ENST00000553981,;SLIRP,intron_variant,,ENST00000556310,;SLIRP,downstream_gene_variant,,ENST00000556956,;SNW1,downstream_gene_variant,,ENST00000556428,;SLIRP,downstream_gene_variant,,ENST00000555890,;	2144	65	55	SUCCESS
GCHFR	2644	.	GRCh37	15	41059562	41059562	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	56	0	ENST00000260447.4:c.*15T>C			ENST00000260447	NM_005258.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10064.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGATTTGCA	NONE	.	.	.	.	.	ENSP00000260447	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000260447	Transcript	.	.	ENSG00000137880	4194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GFRP_HUMAN	GCHFR	HGNC	H0YNX7_HUMAN	.	UPI000013D0DC	SNV	GCHFR,3_prime_UTR_variant,,ENST00000260447,;GCHFR,3_prime_UTR_variant,,ENST00000559445,;GCHFR,3_prime_UTR_variant,,ENST00000558467,;GCHFR,3_prime_UTR_variant,,ENST00000559932,;C15orf62,upstream_gene_variant,,ENST00000344320,;GCHFR,downstream_gene_variant,,ENST00000561160,;DNAJC17,downstream_gene_variant,,ENST00000220496,;GCHFR,non_coding_transcript_exon_variant,,ENST00000558670,;DNAJC17,downstream_gene_variant,,ENST00000558727,;DNAJC17,downstream_gene_variant,,ENST00000559238,;DNAJC17,downstream_gene_variant,,ENST00000561110,;	431	56	45	SUCCESS
UMOD	7369	.	GRCh37	16	20344628	20344628	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs199904726	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	114	351	0	ENST00000302509.4:c.*8C>T			ENST00000302509				0	A:0.0005	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS10583.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	uncertain_significance	TTTCCGCTGTC	NONE	byCluster|by1000G	.	.	A:0	A:0.0002	ENSP00000460548	A:0	11/11	.	.	.	.	.	.	.	.	rs199904726	11/11	PASS	ENST00000570689	Transcript	.	A:0.0002	ENSG00000169344	12559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	A:0	.	.	UROM_HUMAN	UMOD	HGNC	Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN	.	UPI0000137E1A	SNV	UMOD,3_prime_UTR_variant,,ENST00000570689,;UMOD,3_prime_UTR_variant,,ENST00000396142,;UMOD,3_prime_UTR_variant,,ENST00000396134,;UMOD,3_prime_UTR_variant,,ENST00000302509,;UMOD,3_prime_UTR_variant,,ENST00000424589,;UMOD,3_prime_UTR_variant,,ENST00000396138,;UMOD,downstream_gene_variant,,ENST00000570331,;	2078	351	277	SUCCESS
FAM83G	644815	.	GRCh37	17	18874616	18874616	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs566888525	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	40	0	ENST00000345041.4:c.*56G>T			ENST00000345041				0	.	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS42276.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCGCGTCAT	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000373647	T:0	6/6	.	.	.	.	.	.	.	.	rs566888525	6/6	PASS	ENST00000388995	Transcript	.	T:0.0012	ENSG00000188522	32554	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0051	.	.	FA83G_HUMAN	FAM83G	HGNC	.	.	UPI0000E03260	SNV	FAM83G,3_prime_UTR_variant,,ENST00000585154,;FAM83G,3_prime_UTR_variant,,ENST00000388995,;FAM83G,3_prime_UTR_variant,,ENST00000345041,;SLC5A10,intron_variant,,ENST00000417251,;SLC5A10,intron_variant,,ENST00000395647,;SLC5A10,intron_variant,,ENST00000395643,;SLC5A10,intron_variant,,ENST00000395642,;SLC5A10,intron_variant,,ENST00000395645,;SLC5A10,intron_variant,,ENST00000317977,;FAM83G,downstream_gene_variant,,ENST00000399096,;	2752	40	63	SUCCESS
NAGS	162417	.	GRCh37	17	42086093	42086093	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	21	0	ENST00000293404.3:c.*124A>G			ENST00000293404	NM_153006.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11473.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGAGGAGA	NONE	.	.	.	.	.	ENSP00000293404	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000293404	Transcript	.	.	ENSG00000161653	17996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAGS_HUMAN	NAGS	HGNC	Q2NKP2_HUMAN	.	UPI000006E37E	SNV	NAGS,3_prime_UTR_variant,,ENST00000293404,;NAGS,3_prime_UTR_variant,,ENST00000589767,;TMEM101,downstream_gene_variant,,ENST00000587529,;PYY,upstream_gene_variant,,ENST00000360085,;TMEM101,downstream_gene_variant,,ENST00000590905,;TMEM101,downstream_gene_variant,,ENST00000589334,;TMEM101,downstream_gene_variant,,ENST00000542039,;TMEM101,downstream_gene_variant,,ENST00000592127,;TMEM101,downstream_gene_variant,,ENST00000585950,;TMEM101,downstream_gene_variant,,ENST00000206380,;NAGS,non_coding_transcript_exon_variant,,ENST00000592915,;	1847	21	29	SUCCESS
SEPW1	0	.	GRCh37	19	48281868	48281868	+	upstream_gene_variant	5'Flank	SNP	G	G	C	rs1273995241	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	45	0				ENST00000593892				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59402.1	.	MUTECT|MUSE	.	TTGGCGCCTCT	NONE	.	.	.	.	.	ENSP00000473185	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000601048	Transcript	.	.	ENSG00000178980	10752	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SELW_HUMAN	SEPW1	HGNC	.	.	UPI0000161B36	SNV	SEPW1,5_prime_UTR_variant,,ENST00000509570,;SEPW1,5_prime_UTR_variant,,ENST00000601048,;SEPW1,upstream_gene_variant,,ENST00000593892,;SEPW1,upstream_gene_variant,,ENST00000595615,;SEPW1,upstream_gene_variant,,ENST00000599590,;SEPW1,upstream_gene_variant,,ENST00000595509,;SEPW1,upstream_gene_variant,,ENST00000599302,;SEPW1,upstream_gene_variant,,ENST00000601419,;SEPW1,upstream_gene_variant,,ENST00000599627,;SEPW1,upstream_gene_variant,,ENST00000599874,;SEPW1,upstream_gene_variant,,ENST00000602163,;SEPW1,upstream_gene_variant,,ENST00000598956,;SEPW1,upstream_gene_variant,,ENST00000601937,;SEPW1,upstream_gene_variant,,ENST00000598083,;SEPW1,upstream_gene_variant,,ENST00000598273,;	40	45	51	SUCCESS
PTH2	113091	.	GRCh37	19	49925671	49925671	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs975279018	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	45	117	2	ENST00000270631.1:c.*54G>A			ENST00000270631	NM_178449.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12763.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTAGGCGCAGT	NONE	.	.	.	.	.	ENSP00000270631	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000270631	Transcript	.	.	ENSG00000142538	30828	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIP39_HUMAN	PTH2	HGNC	.	.	UPI000006DF4C	SNV	PTH2,3_prime_UTR_variant,,ENST00000270631,;CCDC155,downstream_gene_variant,,ENST00000447857,;GFY,upstream_gene_variant,,ENST00000576655,;CCDC155,downstream_gene_variant,,ENST00000600570,;	459	119	119	SUCCESS
ZNF324	25799	.	GRCh37	19	58983623	58983623	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	10	0	ENST00000196482.3:c.*102G>T			ENST00000196482	NM_014347.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12981.1	.	MUTECT|MUSE	.	TGCTAGTCAGG	NONE	.	.	.	.	.	ENSP00000444812	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000536459	Transcript	.	.	ENSG00000083812	14096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	Z324A_HUMAN	ZNF324	HGNC	F5H1K2_HUMAN	.	UPI000013C359	SNV	ZNF324,3_prime_UTR_variant,,ENST00000196482,;ZNF324,3_prime_UTR_variant,,ENST00000536459,;ZNF324,intron_variant,,ENST00000535298,;ZNF324,intron_variant,,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000335841,;ZNF446,upstream_gene_variant,,ENST00000600013,;ZNF446,upstream_gene_variant,,ENST00000594369,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000391694,;ZNF446,upstream_gene_variant,,ENST00000594468,;	2473	10	16	SUCCESS
LCE2A	353139	.	GRCh37	1	152671729	152671729	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs766890840	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	117	19	108	0	ENST00000368779.1:c.*31A>G			ENST00000368779	NM_178428.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1021.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTATGGAG	NONE	.	.	.	.	.	ENSP00000357768	.	2/2	.	.	.	.	.	.	.	.	rs766890840	2/2	PASS	ENST00000368779	Transcript	.	.	ENSG00000187173	29469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCE2A_HUMAN	LCE2A	HGNC	.	.	UPI00001927D5	SNV	LCE2A,3_prime_UTR_variant,,ENST00000368779,;	403	108	136	SUCCESS
MAEL	84944	.	GRCh37	1	166991317	166991317	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	18	0	ENST00000367872.4:c.*225T>C			ENST00000367872	NM_032858.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1257.1	.	MUTECT|MUSE	.	ATGGGTATATC	NONE	.	.	.	.	.	ENSP00000356846	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000367872	Transcript	.	.	ENSG00000143194	25929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAEL_HUMAN	MAEL	HGNC	E9JVC4_HUMAN	.	UPI0000042202	SNV	MAEL,3_prime_UTR_variant,,ENST00000367870,;MAEL,3_prime_UTR_variant,,ENST00000367872,;MAEL,downstream_gene_variant,,ENST00000447624,;MAEL,non_coding_transcript_exon_variant,,ENST00000491055,;	1774	18	28	SUCCESS
LDLRAD2	401944	.	GRCh37	1	22149750	22149750	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	40	79	0	ENST00000344642.2:c.*1042A>G			ENST00000344642	NM_001013693.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30624.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATATACTC	NONE	.	.	.	.	.	ENSP00000340988	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000344642	Transcript	.	.	ENSG00000187942	32071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRAD2_HUMAN	LDLRAD2	HGNC	.	.	UPI0000470177	SNV	LDLRAD2,3_prime_UTR_variant,,ENST00000344642,;HSPG2,3_prime_UTR_variant,,ENST00000374695,;LDLRAD2,intron_variant,,ENST00000543870,;HSPG2,non_coding_transcript_exon_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000481644,;LDLRAD2,downstream_gene_variant,,ENST00000484271,;	2048	79	88	SUCCESS
MOCS3	27304	.	GRCh37	20	49576802	49576802	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	15	79	0	ENST00000244051.1:c.*40A>G			ENST00000244051	NM_014484.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13435.1	.	RADIA|MUTECT|MUSE	.	TTGCCATAATA	NONE	.	.	.	.	.	ENSP00000244051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244051	Transcript	.	.	ENSG00000124217	15765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MOCS3_HUMAN	MOCS3	HGNC	.	.	UPI000012F369	SNV	MOCS3,3_prime_UTR_variant,,ENST00000244051,;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000371588,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000466152,;	1440	79	89	SUCCESS
CCNL1	57018	.	GRCh37	3	156866025	156866025	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs749596489	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	80	0	ENST00000295926.3:c.*5C>G			ENST00000295926	NM_020307.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3178.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGAGAAAGT	NONE	byFrequency	.	.	.	.	ENSP00000295926	.	11/11	.	.	.	.	.	.	.	.	rs749596489	11/11	PASS	ENST00000295926	Transcript	.	.	ENSG00000163660	20569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNL1_HUMAN	CCNL1	HGNC	.	.	UPI0000071CE2	SNV	CCNL1,3_prime_UTR_variant,,ENST00000295926,;CCNL1,intron_variant,,ENST00000461804,;CCNL1,downstream_gene_variant,,ENST00000479052,;CCNL1,3_prime_UTR_variant,,ENST00000475298,;CCNL1,non_coding_transcript_exon_variant,,ENST00000474539,;CCNL1,non_coding_transcript_exon_variant,,ENST00000476744,;CCNL1,non_coding_transcript_exon_variant,,ENST00000464316,;CCNL1,non_coding_transcript_exon_variant,,ENST00000471247,;CCNL1,downstream_gene_variant,,ENST00000495471,;CCNL1,downstream_gene_variant,,ENST00000467849,;CCNL1,downstream_gene_variant,,ENST00000464575,;CCNL1,downstream_gene_variant,,ENST00000477127,;CCNL1,downstream_gene_variant,,ENST00000465947,;CCNL1,downstream_gene_variant,,ENST00000483789,;CCNL1,downstream_gene_variant,,ENST00000464679,;CCNL1,downstream_gene_variant,,ENST00000476367,;CCNL1,downstream_gene_variant,,ENST00000481173,;CCNL1,downstream_gene_variant,,ENST00000468977,;CCNL1,downstream_gene_variant,,ENST00000470121,;CCNL1,downstream_gene_variant,,ENST00000478454,;CCNL1,downstream_gene_variant,,ENST00000467081,;CCNL1,downstream_gene_variant,,ENST00000479596,;	1705	80	95	SUCCESS
B3GNT5	84002	.	GRCh37	3	182988820	182988820	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	171	19	110	0	ENST00000326505.3:c.*97G>A			ENST00000326505	NM_032047.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3244.1	.	MUTECT|MUSE|VARSCANS	.	AGGACGAAAGA	NONE	.	.	.	.	.	ENSP00000316173	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326505	Transcript	.	.	ENSG00000176597	15684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3GN5_HUMAN	B3GNT5	HGNC	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN	.	UPI000003D75E	SNV	B3GNT5,3_prime_UTR_variant,,ENST00000460419,;B3GNT5,3_prime_UTR_variant,,ENST00000326505,;B3GNT5,3_prime_UTR_variant,,ENST00000465010,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000481531,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;	1764	111	191	SUCCESS
SATB1	6304	.	GRCh37	3	18390490	18390490	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	20	0	ENST00000338745.6:c.*172T>A			ENST00000338745	NM_002971.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56242.1	.	MUTECT|MUSE	.	GGAAAACATTT	NONE	.	.	.	.	.	ENSP00000399518	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000417717	Transcript	.	.	ENSG00000182568	10541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SATB1_HUMAN	SATB1	HGNC	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN	.	UPI0000E1FB67	SNV	SATB1,3_prime_UTR_variant,,ENST00000454909,;SATB1,3_prime_UTR_variant,,ENST00000417717,;SATB1,3_prime_UTR_variant,,ENST00000338745,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000606296,;SATB1,downstream_gene_variant,,ENST00000476178,;SATB1,downstream_gene_variant,,ENST00000467628,;	3531	20	25	SUCCESS
TRNT1	51095	.	GRCh37	3	3190043	3190043	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	14	0	ENST00000251607.6:c.*205G>A			ENST00000251607	NM_182916.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2561.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGTACAG	NONE	.	.	.	.	.	ENSP00000251607	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000251607	Transcript	.	.	ENSG00000072756	17341	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRNT1_HUMAN	TRNT1	HGNC	C9JRS7_HUMAN	.	UPI000013CD08	SNV	TRNT1,3_prime_UTR_variant,,ENST00000251607,;TRNT1,3_prime_UTR_variant,,ENST00000280591,;CRBN,downstream_gene_variant,,ENST00000432408,;CRBN,downstream_gene_variant,,ENST00000424814,;CRBN,downstream_gene_variant,,ENST00000231948,;RP11-97C16.1,upstream_gene_variant,,ENST00000607052,;TRNT1,intron_variant,,ENST00000434583,;CRBN,downstream_gene_variant,,ENST00000459840,;CRBN,downstream_gene_variant,,ENST00000488263,;CRBN,downstream_gene_variant,,ENST00000498442,;CRBN,downstream_gene_variant,,ENST00000491834,;	1612	14	37	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562936	140562936	+	downstream_gene_variant	3'Flank	SNP	G	G	T	.	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	63	0				ENST00000239444	NM_019120.3	268		0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS4251.1	802	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGATTTA	BUFFER|p.S265S|c.795C>T|3,BUFFER|p.D270D|c.810C>T|4	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	COSM3610792	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	1	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Asp268Tyr,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1957	63	69	SUCCESS
FOXQ1	94234	.	GRCh37	6	1314208	1314208	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs1263232038	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	14	0	ENST00000296839.2:c.*57G>C			ENST00000296839	NM_033260.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4471.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACGCGGGCCC	NONE	.	.	.	.	.	ENSP00000296839	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000296839	Transcript	.	.	ENSG00000164379	20951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXQ1_HUMAN	FOXQ1	HGNC	.	.	UPI000013E397	SNV	FOXQ1,3_prime_UTR_variant,,ENST00000296839,;	1534	14	28	SUCCESS
POU3F2	5454	.	GRCh37	6	99286100	99286100	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	31	117	0	ENST00000328345.5:c.*2019T>A			ENST00000328345	NM_005604.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCTGCTCG	NONE	.	.	.	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	3521	117	109	SUCCESS
BCAP29	55973	.	GRCh37	7	107262121	107262121	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	92	0	ENST00000005259.4:c.*3313C>T			ENST00000005259	NM_018844.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34730.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGACCACAG	NONE	.	.	.	.	.	ENSP00000368414	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000379119	Transcript	.	.	ENSG00000075790	24131	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BAP29_HUMAN	BCAP29	HGNC	C9JTE9_HUMAN,C9JP06_HUMAN,C9JGJ9_HUMAN,C9IYK6_HUMAN	.	UPI000049A621	SNV	BCAP29,missense_variant,p.Thr203Ile,ENST00000491150,;BCAP29,3_prime_UTR_variant,,ENST00000005259,;BCAP29,3_prime_UTR_variant,,ENST00000379119,;BCAP29,downstream_gene_variant,,ENST00000445771,;BCAP29,downstream_gene_variant,,ENST00000379117,;BCAP29,downstream_gene_variant,,ENST00000465919,;BCAP29,downstream_gene_variant,,ENST00000494086,;BCAP29,intron_variant,,ENST00000482371,;	4132	92	79	SUCCESS
POM121L12	285877	.	GRCh37	7	53104496	53104496	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	63	0	ENST00000408890.4:c.*241C>A			ENST00000408890	NM_182595.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43584.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCCTTC	NONE	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,3_prime_UTR_variant,,ENST00000408890,;	1148	63	64	SUCCESS
IMPA1	3612	.	GRCh37	8	82571546	82571546	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	19	55	0	ENST00000256108.5:c.*40A>G			ENST00000256108	NM_005536.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47883.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTGGGGA	NONE	.	.	.	.	.	ENSP00000408526	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000449740	Transcript	.	.	ENSG00000133731	6050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMPA1_HUMAN	IMPA1	HGNC	E5RGY4_HUMAN,E5RG94_HUMAN	.	UPI000192950E	SNV	IMPA1,3_prime_UTR_variant,,ENST00000311489,;IMPA1,3_prime_UTR_variant,,ENST00000449740,;IMPA1,3_prime_UTR_variant,,ENST00000256108,;IMPA1,downstream_gene_variant,,ENST00000523942,;IMPA1,downstream_gene_variant,,ENST00000523710,;IMPA1,downstream_gene_variant,,ENST00000518188,;	1131	55	97	SUCCESS
ZBTB43	23099	.	GRCh37	9	129599003	129599003	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	91	0	ENST00000373457.1:c.*2811A>C			ENST00000373457				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCTATTTGT	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,downstream_gene_variant,,ENST00000497064,;	4479	91	96	SUCCESS
ZNF782	158431	.	GRCh37	9	99580150	99580150	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	28	74	0	ENST00000481138.1:c.*55A>G			ENST00000481138	NM_001001662.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35075.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGTATTGTGA	NONE	.	.	.	.	.	ENSP00000419397	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000481138	Transcript	.	.	ENSG00000196597	33110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN782_HUMAN	ZNF782	HGNC	G3V1K9_HUMAN,C9J9Y8_HUMAN	.	UPI00001D76E3	SNV	ZNF782,3_prime_UTR_variant,,ENST00000289032,;ZNF782,3_prime_UTR_variant,,ENST00000481138,;ZNF782,3_prime_UTR_variant,,ENST00000535338,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,;	2817	75	81	SUCCESS
PABPC1L2B	645974	.	GRCh37	X	72225041	72225041	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IE-01	TCGA-CC-A7IE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	56	107	0	ENST00000373521.2:c.*957C>T			ENST00000373521	NM_001042506.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43972.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCGCAGC	NONE	.	.	.	.	.	ENSP00000362621	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373521	Transcript	.	.	ENSG00000184388	31852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAP1M_HUMAN	PABPC1L2B	HGNC	.	.	UPI00001C207A	SNV	PABPC1L2B,3_prime_UTR_variant,,ENST00000373521,;PABPC1L2B,downstream_gene_variant,,ENST00000538388,;RP11-493K23.1,upstream_gene_variant,,ENST00000416989,;	1690	107	116	SUCCESS
NPY4R	5540	.	GRCh37	10	47088181	47088181	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	123	0	ENST00000374312.1:c.*270C>G			ENST00000374312	NM_005972.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31193.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTCTGCTG	NONE	.	.	.	.	.	ENSP00000363431	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374312	Transcript	.	.	ENSG00000204174	9329	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPY4R_HUMAN	NPY4R	HGNC	.	.	UPI0000050415	SNV	NPY4R,3_prime_UTR_variant,,ENST00000395716,;NPY4R,3_prime_UTR_variant,,ENST00000374312,;LINC00842,intron_variant,,ENST00000503031,;	1817	123	76	SUCCESS
RNF26	79102	.	GRCh37	11	119207480	119207480	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1490393021	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	78	0	ENST00000311413.4:c.*346A>G			ENST00000311413	NM_032015.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8419.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATCTATAGGT	NONE	.	.	.	.	.	ENSP00000312439	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000311413	Transcript	.	.	ENSG00000173456	14646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RNF26_HUMAN	RNF26	HGNC	.	.	UPI0000001BF4	SNV	RNF26,3_prime_UTR_variant,,ENST00000311413,;MFRP,downstream_gene_variant,,ENST00000360167,;C1QTNF5,downstream_gene_variant,,ENST00000528368,;MFRP,downstream_gene_variant,,ENST00000449574,;C1QTNF5,downstream_gene_variant,,ENST00000445041,;MFRP,downstream_gene_variant,,ENST00000555262,;RP11-334E6.10,intron_variant,,ENST00000501918,;C1QTNF5,downstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000530681,;	2244	78	50	SUCCESS
SCGB1C1	147199	.	GRCh37	11	194499	194499	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs531983712	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	70	0	ENST00000342878.2:c.*49G>A			ENST00000342878	NM_145651.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS41581.1	.	MUTECT|MUSE	.	CAGCCGTGGAC	NONE	by1000G	.	.	A:0	.	ENSP00000344545	A:0	3/3	.	.	.	.	.	.	.	.	rs531983712	3/3	PASS	ENST00000342878	Transcript	.	A:0.0002	ENSG00000188076	18394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	SG1C1_HUMAN	SCGB1C1	HGNC	.	.	UPI000014156C	SNV	SCGB1C1,3_prime_UTR_variant,,ENST00000342878,;BET1L,intron_variant,,ENST00000410108,;ODF3,upstream_gene_variant,,ENST00000342593,;ODF3,upstream_gene_variant,,ENST00000525282,;ODF3,upstream_gene_variant,,ENST00000325113,;ODF3,upstream_gene_variant,,ENST00000531679,;	357	70	17	SUCCESS
PCBP2	5094	.	GRCh37	12	53873278	53873278	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	52	0	ENST00000439930.3:c.*52A>G			ENST00000439930				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44900.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGATCCAT	NONE	.	.	.	.	.	ENSP00000352438	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000359462	Transcript	.	.	ENSG00000197111	8648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCBP2_HUMAN	PCBP2	HGNC	H3BSP4_HUMAN,F8W0G4_HUMAN,F8VTZ0_HUMAN	.	UPI0000161C69	SNV	PCBP2,3_prime_UTR_variant,,ENST00000455667,;PCBP2,3_prime_UTR_variant,,ENST00000547859,;PCBP2,3_prime_UTR_variant,,ENST00000359282,;PCBP2,3_prime_UTR_variant,,ENST00000546463,;PCBP2,3_prime_UTR_variant,,ENST00000552819,;PCBP2,3_prime_UTR_variant,,ENST00000552296,;PCBP2,3_prime_UTR_variant,,ENST00000562264,;PCBP2,3_prime_UTR_variant,,ENST00000359462,;PCBP2,3_prime_UTR_variant,,ENST00000437231,;PCBP2,3_prime_UTR_variant,,ENST00000439930,;PCBP2,3_prime_UTR_variant,,ENST00000447282,;PCBP2,3_prime_UTR_variant,,ENST00000548933,;PCBP2,3_prime_UTR_variant,,ENST00000549863,;PCBP2,3_prime_UTR_variant,,ENST00000603815,;MAP3K12,downstream_gene_variant,,ENST00000547035,;MAP3K12,downstream_gene_variant,,ENST00000267079,;MAP3K12,downstream_gene_variant,,ENST00000547488,;PCBP2,downstream_gene_variant,,ENST00000553064,;PCBP2,3_prime_UTR_variant,,ENST00000550585,;PCBP2,non_coding_transcript_exon_variant,,ENST00000550733,;PCBP2,non_coding_transcript_exon_variant,,ENST00000547048,;MAP3K12,downstream_gene_variant,,ENST00000551511,;MAP3K12,downstream_gene_variant,,ENST00000547020,;MAP3K12,downstream_gene_variant,,ENST00000552365,;	1476	52	35	SUCCESS
NCKAP1L	3071	.	GRCh37	12	54936700	54936700	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs941996056	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	9	8	0	ENST00000293373.6:c.*231C>T			ENST00000293373	NM_005337.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31813.1	.	MUTECT|MUSE	.	TAGGGCGTGGG	NONE	.	.	.	.	.	ENSP00000293373	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000293373	Transcript	.	.	ENSG00000123338	4862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCKPL_HUMAN	NCKAP1L	HGNC	Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN	.	UPI00001C0439	SNV	NCKAP1L,3_prime_UTR_variant,,ENST00000293373,;NCKAP1L,3_prime_UTR_variant,,ENST00000545638,;RP11-1049A21.2,downstream_gene_variant,,ENST00000547942,;NCKAP1L,downstream_gene_variant,,ENST00000548221,;	3694	8	12	SUCCESS
LGMN	5641	.	GRCh37	14	93170621	93170621	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs758945329	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	19	49	1	ENST00000334869.4:c.*43C>T			ENST00000334869	NM_005606.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9904.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCGGTGGG	NONE	byFrequency	.	.	.	.	ENSP00000376911	.	15/15	.	.	.	.	.	.	.	.	rs758945329	15/15	PASS	ENST00000393218	Transcript	.	.	ENSG00000100600	9472	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LGMN_HUMAN	LGMN	HGNC	Q96CY7_HUMAN,Q53XC6_HUMAN,G3V5B2_HUMAN,G3V4P5_HUMAN,G3V4H2_HUMAN	.	UPI000000CC65	SNV	LGMN,missense_variant,p.Pro369Leu,ENST00000555699,;LGMN,3_prime_UTR_variant,,ENST00000393218,;LGMN,3_prime_UTR_variant,,ENST00000557434,;LGMN,3_prime_UTR_variant,,ENST00000334869,;LGMN,intron_variant,,ENST00000555169,;LGMN,3_prime_UTR_variant,,ENST00000557609,;LGMN,non_coding_transcript_exon_variant,,ENST00000556790,;LGMN,downstream_gene_variant,,ENST00000557725,;	1683	50	42	SUCCESS
NGRN	51335	.	GRCh37	15	90808900	90808900	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	27	38	0				ENST00000379095	NM_001033088.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32329.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCGCTGC	NONE	.	37	.	.	.	ENSP00000368389	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379095	Transcript	.	.	ENSG00000182768	18077	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NGRN_HUMAN	NGRN	HGNC	.	.	UPI00005B2F01	SNV	NGRN,upstream_gene_variant,,ENST00000379095,;TTLL13,downstream_gene_variant,,ENST00000438251,;NGRN,non_coding_transcript_exon_variant,,ENST00000331497,;RP11-697E2.6,intron_variant,,ENST00000561573,;	.	38	40	SUCCESS
GSG1L	146395	.	GRCh37	16	27802517	27802517	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	12	0	ENST00000447459.2:c.*174G>A			ENST00000447459	NM_001109763.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45450.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTCCAAGG	NONE	.	.	.	.	.	ENSP00000394954	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000447459	Transcript	.	.	ENSG00000169181	28283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSG1L_HUMAN	GSG1L	HGNC	.	.	UPI0000EE765B	SNV	GSG1L,3_prime_UTR_variant,,ENST00000380897,;GSG1L,3_prime_UTR_variant,,ENST00000395724,;GSG1L,3_prime_UTR_variant,,ENST00000447459,;GSG1L,3_prime_UTR_variant,,ENST00000380898,;GSG1L,downstream_gene_variant,,ENST00000569166,;	1255	12	15	SUCCESS
MEF2BNB-MEF2B	0	.	GRCh37	19	19256491	19256491	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	30	0	ENST00000444486.3:c.*12G>A			ENST00000444486				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46024.1	.	MUTECT|MUSE	.	CACCGCGGAGG	NONE	.	71	.	.	.	ENSP00000162023	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000162023	Transcript	.	.	ENSG00000213999	6995	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MEF2B_HUMAN	MEF2B	HGNC	.	.	UPI000020380F	SNV	MEF2B,3_prime_UTR_variant,,ENST00000602424,;MEF2B,3_prime_UTR_variant,,ENST00000410050,;MEF2B,3_prime_UTR_variant,,ENST00000409447,;MEF2B,3_prime_UTR_variant,,ENST00000409224,;MEF2BNB-MEF2B,3_prime_UTR_variant,,ENST00000444486,;MEF2B,3_prime_UTR_variant,,ENST00000424583,;MEF2BNB-MEF2B,3_prime_UTR_variant,,ENST00000514819,;MEF2B,downstream_gene_variant,,ENST00000162023,;MEF2BNB-MEF2B,downstream_gene_variant,,ENST00000602438,;MEF2BNB-MEF2B,downstream_gene_variant,,ENST00000602276,;MEF2BNB-MEF2B,3_prime_UTR_variant,,ENST00000602804,;MEF2BNB-MEF2B,3_prime_UTR_variant,,ENST00000354191,;	.	30	25	SUCCESS
KLK9	284366	.	GRCh37	19	51506278	51506278	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	15	0	ENST00000250366.6:c.*89T>C			ENST00000250366	NM_012315.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12816.1	.	RADIA|MUTECT|MUSE	.	CGGGAACCATT	NONE	.	.	.	.	.	ENSP00000366028	.	5/7	.	.	.	.	.	.	.	.	.	5/7	PASS	ENST00000376832	Transcript	.	.	ENSG00000213022	6370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLK9_HUMAN	KLK9	HGNC	Q2XQG6_HUMAN,Q2XQG4_HUMAN	.	UPI000004CA0A	SNV	KLK9,3_prime_UTR_variant,,ENST00000376832,;KLK8,upstream_gene_variant,,ENST00000291726,;KLK9,downstream_gene_variant,,ENST00000594211,;KLK8,upstream_gene_variant,,ENST00000347619,;KLK8,upstream_gene_variant,,ENST00000391806,;KLK8,upstream_gene_variant,,ENST00000320838,;KLK8,upstream_gene_variant,,ENST00000600767,;KLK8,upstream_gene_variant,,ENST00000595238,;KLK8,upstream_gene_variant,,ENST00000593490,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK9,3_prime_UTR_variant,,ENST00000250366,;KLK9,3_prime_UTR_variant,,ENST00000599166,;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,upstream_gene_variant,,ENST00000594669,;KLK8,upstream_gene_variant,,ENST00000599710,;	876	15	11	SUCCESS
TMEM81	388730	.	GRCh37	1	205052515	205052515	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	17	0	ENST00000367167.3:c.*166A>T			ENST00000367167	NM_203376.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1450.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGCTCCCAG	NONE	.	.	.	.	.	ENSP00000356135	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367167	Transcript	.	.	ENSG00000174529	32349	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM81_HUMAN	TMEM81	HGNC	.	.	UPI0000199A1E	SNV	TMEM81,3_prime_UTR_variant,,ENST00000367167,;CNTN2,downstream_gene_variant,,ENST00000331830,;RBBP5,downstream_gene_variant,,ENST00000264515,;RBBP5,downstream_gene_variant,,ENST00000367164,;	1131	17	15	SUCCESS
TMCC2	9911	.	GRCh37	1	205241320	205241320	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	31	0	ENST00000358024.3:c.*68T>A			ENST00000358024	NM_014858.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30984.1	.	MUTECT|MUSE	.	ACCCTTGGACT	NONE	.	.	.	.	.	ENSP00000350718	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358024	Transcript	.	.	ENSG00000133069	24239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMCC2_HUMAN	TMCC2	HGNC	.	.	UPI00002056FC	SNV	TMCC2,3_prime_UTR_variant,,ENST00000329800,;TMCC2,3_prime_UTR_variant,,ENST00000330675,;TMCC2,3_prime_UTR_variant,,ENST00000358024,;TMCC2,3_prime_UTR_variant,,ENST00000545499,;TMCC2,downstream_gene_variant,,ENST00000367159,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,non_coding_transcript_exon_variant,,ENST00000468846,;	2587	31	26	SUCCESS
SOWAHC	65124	.	GRCh37	2	110373745	110373745	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	131	0	ENST00000356454.3:c.*101A>T			ENST00000356454	NM_023016.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33270.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCATTCTT	NONE	.	.	.	.	.	ENSP00000365830	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356454	Transcript	.	.	ENSG00000198142	26149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWAHC_HUMAN	SOWAHC	HGNC	.	.	UPI0000208A9B	SNV	SOWAHC,3_prime_UTR_variant,,ENST00000356454,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000545389,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000397712,;SEPT10,upstream_gene_variant,,ENST00000334001,;SEPT10,upstream_gene_variant,,ENST00000397714,;SEPT10,upstream_gene_variant,,ENST00000356688,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	1835	131	104	SUCCESS
NKIRAS1	28512	.	GRCh37	3	23934410	23934410	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	21	0	ENST00000388759.3:c.*176A>T			ENST00000388759				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33717.1	.	MUTECT|MUSE	.	AATAATAACCT	NONE	.	.	.	.	.	ENSP00000393785	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000443659	Transcript	.	.	ENSG00000197885	17899	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KBRS1_HUMAN	NKIRAS1	HGNC	.	.	UPI000004A03F	SNV	NKIRAS1,3_prime_UTR_variant,,ENST00000415901,;NKIRAS1,3_prime_UTR_variant,,ENST00000421515,;NKIRAS1,3_prime_UTR_variant,,ENST00000443659,;NKIRAS1,3_prime_UTR_variant,,ENST00000425478,;NKIRAS1,3_prime_UTR_variant,,ENST00000437230,;NKIRAS1,3_prime_UTR_variant,,ENST00000388759,;NKIRAS1,3_prime_UTR_variant,,ENST00000412028,;UBE2E1,downstream_gene_variant,,ENST00000424381,;UBE2E1,downstream_gene_variant,,ENST00000306627,;UBE2E1,downstream_gene_variant,,ENST00000452012,;NKIRAS1,downstream_gene_variant,,ENST00000416026,;UBE2E1,downstream_gene_variant,,ENST00000442670,;UBE2E1,downstream_gene_variant,,ENST00000467766,;UBE2E1,downstream_gene_variant,,ENST00000346855,;UBE2E1,downstream_gene_variant,,ENST00000493707,;UBE2E1,downstream_gene_variant,,ENST00000475680,;	1533	21	9	SUCCESS
CHMP2B	25978	.	GRCh37	3	87303053	87303053	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	18	0	ENST00000263780.4:c.*81C>A			ENST00000263780	NM_014043.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2918.1	.	MUTECT|VARSCANS	.	AAACACATGTA	NONE	.	.	.	.	.	ENSP00000263780	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000263780	Transcript	.	.	ENSG00000083937	24537	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHM2B_HUMAN	CHMP2B	HGNC	B2RE76_HUMAN	.	UPI00000701F8	SNV	CHMP2B,3_prime_UTR_variant,,ENST00000471660,;CHMP2B,3_prime_UTR_variant,,ENST00000494980,;CHMP2B,3_prime_UTR_variant,,ENST00000263780,;CHMP2B,downstream_gene_variant,,ENST00000472024,;CHMP2B,non_coding_transcript_exon_variant,,ENST00000466696,;	961	18	16	SUCCESS
HDGFL1	154150	.	GRCh37	6	22569728	22569728	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	42	0				ENST00000510882				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34347.1	.	MUTECT|MUSE	.	CCCAGCAGCCG	NONE	.	67	.	.	.	ENSP00000442129	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000510882	Transcript	.	.	ENSG00000112273	21095	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HDGL1_HUMAN	HDGFL1	HGNC	.	.	UPI0000039B1A	SNV	HDGFL1,5_prime_UTR_variant,,ENST00000230012,;HDGFL1,upstream_gene_variant,,ENST00000510882,;	.	42	18	SUCCESS
PAIP1P1	100421582	.	GRCh37	6	30154170	30154170	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	56	1				ENST00000446875		368		0	.	.	.	.	.	T	V/D	protein_coding	YES	CCDS4678.1	1103	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAGACCTTG	NONE	.	.	PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF277,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	.	.	ENSP00000410446	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000454678	Transcript	.	.	ENSG00000234127	12962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	tolerated(0.09)	.	TRI26_HUMAN	TRIM26	HGNC	Q5SPU2_HUMAN,A2AE50_HUMAN,A2AE48_HUMAN	.	UPI0000001C20	SNV	TRIM26,missense_variant,p.Val368Asp,ENST00000454678,;TRIM26,missense_variant,p.Val368Asp,ENST00000453195,;TRIM26,missense_variant,p.Val368Asp,ENST00000437089,;TRIM26,non_coding_transcript_exon_variant,,ENST00000480999,;PAIP1P1,downstream_gene_variant,,ENST00000446875,;	1540	57	58	SUCCESS
PPP1R3A	5506	.	GRCh37	7	113517648	113517648	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1422086014	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000284601.3:c.*130G>A			ENST00000284601	NM_002711.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5759.1	.	MUTECT|MUSE	.	ATTCGCGTCCC	NONE	.	.	.	.	.	ENSP00000284601	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284601	Transcript	.	.	ENSG00000154415	9291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR3A_HUMAN	PPP1R3A	HGNC	C9JZB3_HUMAN	.	UPI000013DDAA	SNV	PPP1R3A,3_prime_UTR_variant,,ENST00000284601,;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	3568	14	11	SUCCESS
MMP16	4325	.	GRCh37	8	89053579	89053579	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	25	0	ENST00000286614.6:c.*110G>C			ENST00000286614	NM_005941.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6246.1	.	MUTECT|MUSE	.	CGAATCAGGCT	NONE	.	.	.	.	.	ENSP00000286614	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000286614	Transcript	.	.	ENSG00000156103	7162	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP16_HUMAN	MMP16	HGNC	.	.	UPI000003DC73	SNV	MMP16,3_prime_UTR_variant,,ENST00000286614,;	2216	25	33	SUCCESS
FAM92A1	0	.	GRCh37	8	94740580	94740580	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	25	117	0	ENST00000518322.1:c.*55G>C			ENST00000518322	NM_145269.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47892.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAATTGTAGAA	NONE	.	.	.	.	.	ENSP00000429367	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000518322	Transcript	.	.	ENSG00000188343	30452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F92A1_HUMAN	FAM92A1	HGNC	E5RID3_HUMAN,E5RHA4_HUMAN,E5RGE3_HUMAN,E5RFS7_HUMAN,E5RFH7_HUMAN	.	UPI000156FA8B	SNV	FAM92A1,3_prime_UTR_variant,,ENST00000521641,;FAM92A1,3_prime_UTR_variant,,ENST00000423990,;FAM92A1,3_prime_UTR_variant,,ENST00000518322,;FAM92A1,3_prime_UTR_variant,,ENST00000517718,;FAM92A1,downstream_gene_variant,,ENST00000519679,;RBM12B,downstream_gene_variant,,ENST00000399300,;RBM12B,downstream_gene_variant,,ENST00000517700,;RP11-10N23.4,upstream_gene_variant,,ENST00000517998,;FAM92A1,downstream_gene_variant,,ENST00000520363,;RBM12B,downstream_gene_variant,,ENST00000520961,;FAM92A1,3_prime_UTR_variant,,ENST00000518116,;FAM92A1,3_prime_UTR_variant,,ENST00000359421,;FAM92A1,3_prime_UTR_variant,,ENST00000452913,;FAM92A1,non_coding_transcript_exon_variant,,ENST00000523577,;	1066	118	162	SUCCESS
TMEM215	401498	.	GRCh37	9	32786023	32786023	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IF-01	TCGA-CC-A7IF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	30	92	0	ENST00000342743.5:c.*1134A>G			ENST00000342743	NM_212558.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6530.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATAAAAGTC	NONE	.	.	.	.	.	ENSP00000345468	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342743	Transcript	.	.	ENSG00000188133	33816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM215_HUMAN	TMEM215	HGNC	.	.	UPI0000049371	SNV	TMEM215,3_prime_UTR_variant,,ENST00000342743,;	2207	92	58	SUCCESS
COL4A2	1284	.	GRCh37	13	111164624	111164624	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	14	0	ENST00000360467.5:c.*86T>G			ENST00000360467	NM_001846.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41907.1	.	SOMATICSNIPER|VARSCANS	.	TTTTTTTCTTA	NONE	.	.	.	.	.	ENSP00000353654	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000360467	Transcript	.	.	ENSG00000134871	2203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO4A2_HUMAN	COL4A2	HGNC	A2A352_HUMAN	.	UPI000041C713	SNV	COL4A2,3_prime_UTR_variant,,ENST00000360467,;COL4A2-AS1,upstream_gene_variant,,ENST00000417970,;COL4A2,downstream_gene_variant,,ENST00000480609,;COL4A2,downstream_gene_variant,,ENST00000463084,;	5531	14	38	SUCCESS
SOX1	6656	.	GRCh37	13	112723901	112723901	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	450	30	183	0	ENST00000330949.1:c.*753C>G			ENST00000330949	NM_005986.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9523.1	.	MUTECT|MUSE	.	GACCCCCCACC	NONE	.	.	.	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330949	Transcript	.	.	ENSG00000182968	11189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,3_prime_UTR_variant,,ENST00000330949,;	1989	183	480	SUCCESS
SUPT16H	11198	.	GRCh37	14	21820768	21820768	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	31	0	ENST00000216297.2:c.*64A>G			ENST00000216297	NM_007192.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9569.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATGTCAT	NONE	.	.	.	.	.	ENSP00000216297	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000216297	Transcript	.	.	ENSG00000092201	11465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SP16H_HUMAN	SUPT16H	HGNC	.	.	UPI0000035D5C	SNV	SUPT16H,3_prime_UTR_variant,,ENST00000216297,;RPGRIP1,downstream_gene_variant,,ENST00000400017,;RPGRIP1,downstream_gene_variant,,ENST00000382933,;RPGRIP1,downstream_gene_variant,,ENST00000557771,;RPGRIP1,downstream_gene_variant,,ENST00000307974,;RPGRIP1,downstream_gene_variant,,ENST00000555587,;RPGRIP1,downstream_gene_variant,,ENST00000206660,;RPGRIP1,downstream_gene_variant,,ENST00000556336,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000557394,;RPGRIP1,downstream_gene_variant,,ENST00000555489,;SUPT16H,downstream_gene_variant,,ENST00000552829,;RPGRIP1,downstream_gene_variant,,ENST00000553927,;RPGRIP1,downstream_gene_variant,,ENST00000555322,;	3547	31	47	SUCCESS
MGA	23269	.	GRCh37	15	42059545	42059545	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	15	0	ENST00000219905.7:c.*67G>T			ENST00000219905	NM_001164273.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55959.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCAGGCATCT	NONE	.	.	.	.	.	ENSP00000219905	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000219905	Transcript	.	.	ENSG00000174197	14010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAP_HUMAN	MGA	HGNC	H3BTF4_HUMAN,H3BP52_HUMAN	.	UPI0001B2337E	SNV	MGA,3_prime_UTR_variant,,ENST00000219905,;MGA,3_prime_UTR_variant,,ENST00000570161,;MGA,3_prime_UTR_variant,,ENST00000545763,;MGA,3_prime_UTR_variant,,ENST00000389936,;MGA,3_prime_UTR_variant,,ENST00000566586,;RP11-107F6.3,downstream_gene_variant,,ENST00000562063,;RP11-107F6.3,downstream_gene_variant,,ENST00000607504,;	9446	15	24	SUCCESS
IQCK	124152	.	GRCh37	16	19867989	19867989	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	23	0	ENST00000320394.6:c.*119G>A			ENST00000320394	NM_153208.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10580.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGGAATCT	NONE	.	.	.	.	.	ENSP00000324901	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000320394	Transcript	.	.	ENSG00000174628	28556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IQCK_HUMAN	IQCK	HGNC	B4E1V3_HUMAN	.	UPI0000072C5C	SNV	IQCK,3_prime_UTR_variant,,ENST00000541926,;IQCK,3_prime_UTR_variant,,ENST00000320394,;IQCK,intron_variant,,ENST00000568061,;GPRC5B,downstream_gene_variant,,ENST00000300571,;GPRC5B,downstream_gene_variant,,ENST00000537135,;GPRC5B,downstream_gene_variant,,ENST00000569847,;GPRC5B,downstream_gene_variant,,ENST00000569479,;IQCK,downstream_gene_variant,,ENST00000433597,;GPRC5B,downstream_gene_variant,,ENST00000535671,;IQCK,non_coding_transcript_exon_variant,,ENST00000562762,;GPRC5B,downstream_gene_variant,,ENST00000569102,;IQCK,3_prime_UTR_variant,,ENST00000308214,;IQCK,3_prime_UTR_variant,,ENST00000561839,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;IQCK,downstream_gene_variant,,ENST00000564955,;GPRC5B,downstream_gene_variant,,ENST00000562348,;	1682	23	27	SUCCESS
ZNF254	9534	.	GRCh37	19	24310794	24310794	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	11	0	ENST00000357002.4:c.*12A>C			ENST00000357002	NM_203282.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32983.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAAAGCCT	NONE	.	.	.	.	.	ENSP00000349494	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357002	Transcript	.	.	ENSG00000213096	13047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN254_HUMAN	ZNF254	HGNC	F5H2M4_HUMAN	.	UPI0000366DB6	SNV	ZNF254,3_prime_UTR_variant,,ENST00000357002,;ZNF254,3_prime_UTR_variant,,ENST00000342944,;ZNF254,downstream_gene_variant,,ENST00000595187,;ZNF254,downstream_gene_variant,,ENST00000594886,;	2107	11	19	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49973755	49973755	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	32	54	0	ENST00000293350.4:c.*31A>T			ENST00000293350	NM_153329.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12766.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGACACCTCA	NONE	.	.	.	.	.	ENSP00000293350	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,3_prime_UTR_variant,,ENST00000293350,;ALDH16A1,3_prime_UTR_variant,,ENST00000540132,;ALDH16A1,3_prime_UTR_variant,,ENST00000455361,;ALDH16A1,3_prime_UTR_variant,,ENST00000433981,;FLT3LG,upstream_gene_variant,,ENST00000595510,;FLT3LG,upstream_gene_variant,,ENST00000600429,;FLT3LG,upstream_gene_variant,,ENST00000597551,;FLT3LG,upstream_gene_variant,,ENST00000344019,;FLT3LG,upstream_gene_variant,,ENST00000204637,;FLT3LG,upstream_gene_variant,,ENST00000596435,;FLT3LG,upstream_gene_variant,,ENST00000594009,;CTD-3148I10.15,upstream_gene_variant,,ENST00000595815,;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000594549,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,intron_variant,,ENST00000599536,;FLT3LG,upstream_gene_variant,,ENST00000600084,;FLT3LG,upstream_gene_variant,,ENST00000601800,;FLT3LG,upstream_gene_variant,,ENST00000593422,;ALDH16A1,downstream_gene_variant,,ENST00000600265,;	2603	54	51	SUCCESS
CPT1C	126129	.	GRCh37	19	50216937	50216937	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	19	38	0	ENST00000323446.5:c.*75G>A			ENST00000323446	NM_152359.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12779.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGCAACT	NONE	.	.	.	.	.	ENSP00000376303	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000392518	Transcript	.	.	ENSG00000169169	18540	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPT1C_HUMAN	CPT1C	HGNC	M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN	.	UPI0000071C78	SNV	CPT1C,3_prime_UTR_variant,,ENST00000597099,;CPT1C,3_prime_UTR_variant,,ENST00000595031,;CPT1C,3_prime_UTR_variant,,ENST00000323446,;CPT1C,3_prime_UTR_variant,,ENST00000392518,;CPT1C,3_prime_UTR_variant,,ENST00000405931,;CPT1C,downstream_gene_variant,,ENST00000598293,;CPT1C,downstream_gene_variant,,ENST00000354199,;CPT1C,non_coding_transcript_exon_variant,,ENST00000598072,;CPT1C,non_coding_transcript_exon_variant,,ENST00000598647,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599937,;CPT1C,downstream_gene_variant,,ENST00000596701,;CPT1C,downstream_gene_variant,,ENST00000599023,;CPT1C,downstream_gene_variant,,ENST00000295404,;CPT1C,downstream_gene_variant,,ENST00000598259,;CPT1C,downstream_gene_variant,,ENST00000595901,;	2859	38	36	SUCCESS
RP5-1182A14.5	0	.	GRCh37	1	16946512	16946512	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs59452670	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	20	46	2				ENST00000607700				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	SOMATICSNIPER|VARSCANS	.	GCCATGCTGCC	NONE	.	2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs59452670	.	PASS	ENST00000607700	Transcript	.	.	ENSG00000271732	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP5-1182A14.5	Clone_based_vega_gene	.	.	.	SNV	CROCCP2,non_coding_transcript_exon_variant,,ENST00000540383,;CROCCP2,non_coding_transcript_exon_variant,,ENST00000412962,;RP5-1182A14.5,downstream_gene_variant,,ENST00000607700,;	.	48	68	SUCCESS
RLF	6018	.	GRCh37	1	40706226	40706226	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	35	50	0	ENST00000372771.4:c.*107A>C			ENST00000372771	NM_012421.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS448.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGAATAGGC	NONE	.	.	.	.	.	ENSP00000361857	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372771	Transcript	.	.	ENSG00000117000	10025	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RLF_HUMAN	RLF	HGNC	.	.	UPI000013C9DA	SNV	RLF,3_prime_UTR_variant,,ENST00000372771,;	5879	50	43	SUCCESS
GNAS-AS1	149775	.	GRCh37	20	57428698	57428698	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	57	0				ENST00000424094		126		0	.	.	.	.	.	T	G	protein_coding	YES	CCDS46622.1	378	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGGGGTCCA	NONE	.	.	.	.	.	ENSP00000360141	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Gly63Val,ENST00000306120,;GNAS,synonymous_variant,p.%3D,ENST00000371102,;GNAS,synonymous_variant,p.%3D,ENST00000371099,;GNAS,synonymous_variant,p.%3D,ENST00000371100,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000371075,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000467227,;GNAS,upstream_gene_variant,,ENST00000481768,;	930	57	41	SUCCESS
KLHL22	84861	.	GRCh37	22	20796021	20796021	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	15	0	ENST00000328879.4:c.*339G>C			ENST00000328879	NM_032775.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13780.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCCCCTGC	NONE	.	.	.	.	.	ENSP00000331682	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000328879	Transcript	.	.	ENSG00000099910	25888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH22_HUMAN	KLHL22	HGNC	C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN	.	UPI0000072F37	SNV	KLHL22,3_prime_UTR_variant,,ENST00000440659,;KLHL22,3_prime_UTR_variant,,ENST00000328879,;SCARF2,upstream_gene_variant,,ENST00000405555,;SCARF2,upstream_gene_variant,,ENST00000266214,;KLHL22,intron_variant,,ENST00000429594,;	2401	15	25	SUCCESS
AMER3	205147	.	GRCh37	2	131523861	131523861	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	25	55	0				ENST00000321420				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2164.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCAGTCTGG	NONE	.	.	.	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,3_prime_UTR_variant,,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000431758,;	4326	55	31	SUCCESS
HOXD9	3235	.	GRCh37	2	176988912	176988912	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1458433444	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	29	40	0	ENST00000249499.6:c.*9G>T			ENST00000249499	NM_014213.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2267.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCGGTGCT	NONE	.	.	.	.	.	ENSP00000249499	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249499	Transcript	.	.	ENSG00000128709	5140	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXD9_HUMAN	HOXD9	HGNC	.	.	UPI000004A10E	SNV	HOXD9,3_prime_UTR_variant,,ENST00000249499,;HOXD10,downstream_gene_variant,,ENST00000249501,;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000549469,;HOXD10,downstream_gene_variant,,ENST00000490088,;	1477	40	34	SUCCESS
SPHKAP	80309	.	GRCh37	2	228846270	228846270	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	27	0	ENST00000392056.3:c.*163G>C			ENST00000392056	NM_001142644.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46537.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCCTCTG	NONE	.	.	.	.	.	ENSP00000375909	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,3_prime_UTR_variant,,ENST00000344657,;SPHKAP,3_prime_UTR_variant,,ENST00000392056,;	5313	27	33	SUCCESS
PRR23B	389151	.	GRCh37	3	138738602	138738602	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	14	0	ENST00000329447.5:c.*104G>T			ENST00000329447	NM_001013650.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33868.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGTGCCCAAT	NONE	.	.	.	.	.	ENSP00000328768	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329447	Transcript	.	.	ENSG00000184814	33764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PR23B_HUMAN	PRR23B	HGNC	.	.	UPI00001C0F1A	SNV	PRR23B,3_prime_UTR_variant,,ENST00000329447,;MRPS22,intron_variant,,ENST00000495075,;	1167	14	28	SUCCESS
ITPR1	3708	.	GRCh37	3	4888041	4888041	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	21	0	ENST00000354582.6:c.*132T>C			ENST00000354582				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54551.1	.	MUTECT|MUSE	.	TACTGTATGTA	NONE	.	.	.	.	.	ENSP00000306253	.	61/61	.	.	.	.	.	.	.	.	.	61/61	PASS	ENST00000302640	Transcript	.	.	ENSG00000150995	6180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITPR1_HUMAN	ITPR1	HGNC	.	.	UPI0000E5A461	SNV	ITPR1,3_prime_UTR_variant,,ENST00000423119,;ITPR1,3_prime_UTR_variant,,ENST00000456211,;ITPR1,3_prime_UTR_variant,,ENST00000357086,;ITPR1,3_prime_UTR_variant,,ENST00000302640,;ITPR1,3_prime_UTR_variant,,ENST00000443694,;ITPR1,3_prime_UTR_variant,,ENST00000354582,;ITPR1,3_prime_UTR_variant,,ENST00000544951,;AC018816.3,intron_variant,,ENST00000441894,;AC018816.3,intron_variant,,ENST00000449914,;ITPR1,non_coding_transcript_exon_variant,,ENST00000463980,;ITPR1,non_coding_transcript_exon_variant,,ENST00000493491,;AC018816.3,intron_variant,,ENST00000465436,;	8714	21	31	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562729	140562730	+	downstream_gene_variant	3'Flank	INS	-	-	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	24	55	0				ENST00000239444	NM_019120.3	199		0	.	.	.	.	.	A	E/EX	protein_coding	YES	CCDS4251.1	595-596	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAAAGAGCTG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	insertion	PCDHB16,frameshift_variant,p.Leu200AlafsTer32,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1750-1751	55	87	SUCCESS
HIST1H1A	0	.	GRCh37	6	26017266	26017266	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	60	68	0	ENST00000244573.3:c.*47C>T			ENST00000244573	NM_005325.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4569.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGGCTCTT	NONE	.	.	.	.	.	ENSP00000244573	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244573	Transcript	.	.	ENSG00000124610	4715	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H11_HUMAN	HIST1H1A	HGNC	.	.	UPI0000001BD8	SNV	HIST1H1A,3_prime_UTR_variant,,ENST00000244573,;HIST1H4A,upstream_gene_variant,,ENST00000359907,;HIST1H3A,upstream_gene_variant,,ENST00000357647,;U91328.22,downstream_gene_variant,,ENST00000608919,;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;	775	68	107	SUCCESS
IMMP2L	83943	.	GRCh37	7	110303562	110303562	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IG-01	TCGA-CC-A7IG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	25	0	ENST00000331762.3:c.*96A>G			ENST00000331762	NM_001244606.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5753.1	.	MUTECT|MUSE	.	CATCATATTGT	NONE	.	.	.	.	.	ENSP00000384966	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000405709	Transcript	.	.	ENSG00000184903	14598	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMP2L_HUMAN	IMMP2L	HGNC	C9JVB0_HUMAN,A4D0S9_HUMAN	.	UPI000006D162	SNV	IMMP2L,3_prime_UTR_variant,,ENST00000405709,;IMMP2L,3_prime_UTR_variant,,ENST00000450877,;IMMP2L,3_prime_UTR_variant,,ENST00000331762,;IMMP2L,3_prime_UTR_variant,,ENST00000452895,;IMMP2L,downstream_gene_variant,,ENST00000415362,;IMMP2L,non_coding_transcript_exon_variant,,ENST00000489381,;IMMP2L,non_coding_transcript_exon_variant,,ENST00000487733,;	1067	25	16	SUCCESS
C10orf107	0	.	GRCh37	10	63525870	63525870	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	44	0	ENST00000330194.2:c.*99T>A			ENST00000330194	NM_173554.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7262.1	.	MUTECT|MUSE	.	TTAGTTGTGAA	NONE	.	.	.	.	.	ENSP00000328698	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000330194	Transcript	.	.	ENSG00000183346	28678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CJ107_HUMAN	C10orf107	HGNC	.	.	UPI00000745BC	SNV	C10orf107,3_prime_UTR_variant,,ENST00000330194,;	1031	44	31	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100863739	100863739	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	122	67	199	1				ENST00000298815	NM_152432.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGACCATT	NONE	.	.	.	.	.	ENSP00000303999	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303130	Transcript	.	.	ENSG00000170647	24033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM133_HUMAN	TMEM133	HGNC	.	.	UPI0000070A3A	SNV	TMEM133,3_prime_UTR_variant,,ENST00000303130,;ARHGAP42,downstream_gene_variant,,ENST00000524892,;ARHGAP42,downstream_gene_variant,,ENST00000298815,;ARHGAP42,downstream_gene_variant,,ENST00000529535,;	929	201	190	SUCCESS
INS-IGF2	723961	.	GRCh37	11	2153979	2153979	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	9	0	ENST00000356578.4:c.*833A>G			ENST00000356578				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44517.1	.	MUTECT|MUSE	.	GGGTGTTTAAA	NONE	.	.	.	.	.	ENSP00000391826	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434045	Transcript	.	.	ENSG00000167244	5466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IGF2_HUMAN	IGF2	HGNC	E3UN46_HUMAN	.	UPI0001751501	SNV	IGF2,3_prime_UTR_variant,,ENST00000381395,;IGF2,3_prime_UTR_variant,,ENST00000381389,;IGF2,3_prime_UTR_variant,,ENST00000434045,;IGF2,3_prime_UTR_variant,,ENST00000381406,;IGF2,3_prime_UTR_variant,,ENST00000416167,;IGF2,3_prime_UTR_variant,,ENST00000381392,;IGF2,3_prime_UTR_variant,,ENST00000418738,;IGF2,3_prime_UTR_variant,,ENST00000300632,;MIR483,downstream_gene_variant,,ENST00000385070,;AC132217.4,upstream_gene_variant,,ENST00000430034,;INS-IGF2,3_prime_UTR_variant,,ENST00000356578,;	1334	9	8	SUCCESS
ELP4	26610	.	GRCh37	11	31805232	31805232	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs189489742	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	56	0	ENST00000350638.5:c.*160A>G			ENST00000350638	NM_019040.3			0	.	G:0	.	G:0.0014	.	G	.	protein_coding	YES	CCDS7875.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACAGAACT	NONE	by1000G	.	.	G:0	.	ENSP00000298937	G:0	10/10	.	.	.	.	.	.	.	.	rs189489742	10/10	PASS	ENST00000350638	Transcript	.	G:0.0002	ENSG00000109911	1171	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ELP4_HUMAN	ELP4	HGNC	Q9H4R8_HUMAN	.	UPI0000074047	SNV	ELP4,3_prime_UTR_variant,,ENST00000379163,;ELP4,3_prime_UTR_variant,,ENST00000395934,;ELP4,3_prime_UTR_variant,,ENST00000350638,;PAX6,downstream_gene_variant,,ENST00000419022,;Z83307.3,downstream_gene_variant,,ENST00000606377,;	1470	56	59	SUCCESS
RAG1	5896	.	GRCh37	11	36598645	36598645	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	35	106	0	ENST00000299440.5:c.*659T>A			ENST00000299440	NM_000448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7902.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCTATTGT	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	3903	106	103	SUCCESS
RAG1	5896	.	GRCh37	11	36601139	36601139	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	68	174	0	ENST00000299440.5:c.*3153G>A			ENST00000299440	NM_000448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7902.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGCAATG	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	6397	174	182	SUCCESS
FUT4	2526	.	GRCh37	11	94282423	94282423	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1393202949	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	37	94	1	ENST00000358752.2:c.*3531A>G			ENST00000358752	NM_002033.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTCAGGATA	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	5407	95	89	SUCCESS
AMOTL1	154810	.	GRCh37	11	94604010	94604010	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs375793570	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	58	0	ENST00000433060.2:c.*50C>T			ENST00000433060	NM_130847.2			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS44712.1	.	MUTECT|MUSE	.	GAAAGCGGCAG	NONE	byFrequency|byCluster	.	.	.	T:0.0002	ENSP00000387739	.	13/13	.	.	.	.	.	.	.	.	rs375793570	13/13	PASS	ENST00000433060	Transcript	.	.	ENSG00000166025	17811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMOL1_HUMAN	AMOTL1	HGNC	.	.	UPI00000742C2	SNV	AMOTL1,3_prime_UTR_variant,,ENST00000317837,;AMOTL1,3_prime_UTR_variant,,ENST00000317829,;AMOTL1,3_prime_UTR_variant,,ENST00000433060,;RP11-856F16.2,downstream_gene_variant,,ENST00000545958,;AMOTL1,downstream_gene_variant,,ENST00000537191,;	3062	58	40	SUCCESS
LRP6	4040	.	GRCh37	12	12273986	12273986	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	51	0	ENST00000261349.4:c.*74G>T			ENST00000261349	NM_002336.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8647.1	.	MUTECT|MUSE	.	CCCTCCCCCCC	NONE	.	.	.	.	.	ENSP00000261349	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000261349	Transcript	.	.	ENSG00000070018	6698	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP6_HUMAN	LRP6	HGNC	F5H0Z3_HUMAN,B3KQA9_HUMAN	.	UPI00001FB66C	SNV	LRP6,3_prime_UTR_variant,,ENST00000540527,;LRP6,3_prime_UTR_variant,,ENST00000261349,;BCL2L14,intron_variant,,ENST00000396369,;LRP6,downstream_gene_variant,,ENST00000543091,;LRP6,downstream_gene_variant,,ENST00000540415,;BCL2L14,intron_variant,,ENST00000298566,;LRP6,intron_variant,,ENST00000538239,;	4993	51	32	SUCCESS
KCNA1	3736	.	GRCh37	12	5022471	5022471	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	228	7	249	0	ENST00000382545.3:c.*439T>A			ENST00000382545	NM_000217.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8535.1	.	MUTECT|MUSE	.	CAAACTGCGTA	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	3034	249	235	SUCCESS
KRR1	11103	.	GRCh37	12	75892264	75892264	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	14	0	ENST00000229214.4:c.*1325C>A			ENST00000229214	NM_007043.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9012.1	.	MUTECT|MUSE	.	TAAAAGGTTTA	NONE	.	.	.	.	.	ENSP00000229214	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000229214	Transcript	.	.	ENSG00000111615	5176	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRR1_HUMAN	KRR1	HGNC	.	.	UPI00001403EE	SNV	KRR1,3_prime_UTR_variant,,ENST00000229214,;GLIPR1,intron_variant,,ENST00000456650,;GLIPR1,intron_variant,,ENST00000266659,;KRR1,downstream_gene_variant,,ENST00000438169,;GLIPR1,downstream_gene_variant,,ENST00000550491,;GLIPR1,intron_variant,,ENST00000536703,;KRR1,downstream_gene_variant,,ENST00000551070,;	2495	14	18	SUCCESS
KLRF1	51348	.	GRCh37	12	9997154	9997154	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	54	0	ENST00000279544.3:c.*29C>A			ENST00000279544	NM_016523.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41750.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATCAATGA	NONE	.	.	.	.	.	ENSP00000279544	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000279544	Transcript	.	.	ENSG00000150045	13342	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLRF1_HUMAN	KLRF1	HGNC	.	.	UPI0000141308	SNV	KLRF1,3_prime_UTR_variant,,ENST00000324214,;KLRF1,3_prime_UTR_variant,,ENST00000354855,;KLRF1,3_prime_UTR_variant,,ENST00000537723,;KLRF1,3_prime_UTR_variant,,ENST00000279544,;KLRF1,3_prime_UTR_variant,,ENST00000535631,;KLRF1,3_prime_UTR_variant,,ENST00000279545,;KLRF1,3_prime_UTR_variant,,ENST00000545196,;	792	54	48	SUCCESS
TPTE2	93492	.	GRCh37	13	19997115	19997115	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	30	61	0	ENST00000400230.2:c.*87C>A			ENST00000400230				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45014.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATGTGGCAGG	NONE	.	.	.	.	.	ENSP00000383089	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000400230	Transcript	.	.	ENSG00000132958	17299	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPTE2_HUMAN	TPTE2	HGNC	.	.	UPI000040738D	SNV	TPTE2,3_prime_UTR_variant,,ENST00000255310,;TPTE2,3_prime_UTR_variant,,ENST00000382978,;TPTE2,3_prime_UTR_variant,,ENST00000400103,;TPTE2,3_prime_UTR_variant,,ENST00000400230,;TPTE2,downstream_gene_variant,,ENST00000382977,;TPTE2,downstream_gene_variant,,ENST00000457266,;TPTE2,downstream_gene_variant,,ENST00000382975,;TPTE2,downstream_gene_variant,,ENST00000390680,;TPTE2,downstream_gene_variant,,ENST00000462409,;	1701	61	65	SUCCESS
SLITRK5	26050	.	GRCh37	13	88331310	88331310	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs569036627	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	56	0	ENST00000325089.6:c.*790A>C			ENST00000325089	NM_015567.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9465.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCAGAGGT	NONE	byCluster	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	rs569036627	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,downstream_gene_variant,,ENST00000400028,;	3886	56	70	SUCCESS
TEP1	7011	.	GRCh37	14	20836558	20836558	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1200435449	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	80	0	ENST00000262715.5:c.*38A>G			ENST00000262715	NM_007110.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9548.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTAGCAC	NONE	.	.	.	.	.	ENSP00000262715	.	55/55	.	.	.	.	.	.	.	.	.	55/55	PASS	ENST00000262715	Transcript	.	.	ENSG00000129566	11726	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TEP1_HUMAN	TEP1	HGNC	G3V591_HUMAN	.	UPI000013D30B	SNV	TEP1,3_prime_UTR_variant,,ENST00000556935,;TEP1,3_prime_UTR_variant,,ENST00000262715,;TEP1,downstream_gene_variant,,ENST00000553984,;TEP1,downstream_gene_variant,,ENST00000545983,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000553365,;TEP1,3_prime_UTR_variant,,ENST00000555008,;TEP1,downstream_gene_variant,,ENST00000557314,;	7963	81	97	SUCCESS
MDGA2	161357	.	GRCh37	14	47310945	47310945	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	20	0	ENST00000399232.2:c.*189C>A			ENST00000399232	NM_001113498.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41948.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTGGAATAA	NONE	.	.	.	.	.	ENSP00000405456	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000426342	Transcript	.	.	ENSG00000139915	19835	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MDGA2_HUMAN	MDGA2	HGNC	F8WE89_HUMAN	.	UPI0000213DB6	SNV	MDGA2,3_prime_UTR_variant,,ENST00000399222,;MDGA2,3_prime_UTR_variant,,ENST00000426342,;MDGA2,3_prime_UTR_variant,,ENST00000399232,;MDGA2,downstream_gene_variant,,ENST00000357362,;MDGA2,downstream_gene_variant,,ENST00000439988,;	3120	20	28	SUCCESS
L2HGDH	79944	.	GRCh37	14	50713590	50713590	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	26	0	ENST00000267436.4:c.*186C>T			ENST00000267436				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9698.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCGCCACC	NONE	.	.	.	.	.	ENSP00000267436	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000267436	Transcript	.	.	ENSG00000087299	20499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	L2HDH_HUMAN	L2HGDH	HGNC	.	.	UPI0000048F63	SNV	L2HGDH,3_prime_UTR_variant,,ENST00000267436,;L2HGDH,intron_variant,,ENST00000421284,;L2HGDH,intron_variant,,ENST00000261699,;	1976	26	18	SUCCESS
SCG5	6447	.	GRCh37	15	32988889	32988889	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	51	0	ENST00000300175.4:c.*79G>T			ENST00000300175	NM_001144757.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45207.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGTGAAT	NONE	.	.	.	.	.	ENSP00000300175	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000300175	Transcript	.	.	ENSG00000166922	10816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	7B2_HUMAN	SCG5	HGNC	.	.	UPI0000124F98	SNV	SCG5,3_prime_UTR_variant,,ENST00000497208,;SCG5,3_prime_UTR_variant,,ENST00000494364,;SCG5,3_prime_UTR_variant,,ENST00000300175,;SCG5,3_prime_UTR_variant,,ENST00000413748,;SCG5,downstream_gene_variant,,ENST00000471027,;SCG5,downstream_gene_variant,,ENST00000498069,;SCG5,downstream_gene_variant,,ENST00000470349,;SCG5,non_coding_transcript_exon_variant,,ENST00000475752,;SCG5,downstream_gene_variant,,ENST00000498607,;	828	51	42	SUCCESS
TLE3	7090	.	GRCh37	15	70342414	70342414	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	20	43	0	ENST00000558939.1:c.*22T>C			ENST00000558939	NM_001282979.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45293.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTGACAGCC	NONE	.	.	.	.	.	ENSP00000452871	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000558939	Transcript	.	.	ENSG00000140332	11839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE3_HUMAN	TLE3	HGNC	H0YNT2_HUMAN	.	UPI000013703A	SNV	TLE3,3_prime_UTR_variant,,ENST00000558201,;TLE3,3_prime_UTR_variant,,ENST00000539550,;TLE3,3_prime_UTR_variant,,ENST00000557997,;TLE3,3_prime_UTR_variant,,ENST00000559929,;TLE3,3_prime_UTR_variant,,ENST00000442299,;TLE3,3_prime_UTR_variant,,ENST00000560939,;TLE3,3_prime_UTR_variant,,ENST00000560589,;TLE3,3_prime_UTR_variant,,ENST00000558939,;TLE3,3_prime_UTR_variant,,ENST00000440567,;TLE3,3_prime_UTR_variant,,ENST00000559191,;TLE3,3_prime_UTR_variant,,ENST00000317509,;TLE3,3_prime_UTR_variant,,ENST00000559048,;TLE3,downstream_gene_variant,,ENST00000451782,;TLE3,downstream_gene_variant,,ENST00000558379,;TLE3,downstream_gene_variant,,ENST00000557907,;TLE3,3_prime_UTR_variant,,ENST00000560525,;TLE3,3_prime_UTR_variant,,ENST00000557919,;TLE3,3_prime_UTR_variant,,ENST00000561453,;TLE3,non_coding_transcript_exon_variant,,ENST00000557815,;TLE3,non_coding_transcript_exon_variant,,ENST00000559608,;TLE3,downstream_gene_variant,,ENST00000542329,;	3719	43	53	SUCCESS
SPN	6693	.	GRCh37	16	29680189	29680189	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	31	80	1	ENST00000360121.3:c.*3937T>C			ENST00000360121	NM_001030288.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10650.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGATCCAGC	NONE	.	.	.	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,3_prime_UTR_variant,,ENST00000360121,;QPRT,intron_variant,,ENST00000449759,;SPN,downstream_gene_variant,,ENST00000436527,;SPN,downstream_gene_variant,,ENST00000395389,;SPN,non_coding_transcript_exon_variant,,ENST00000561857,;SPN,intron_variant,,ENST00000563039,;	5232	82	69	SUCCESS
FA2H	79152	.	GRCh37	16	74747959	74747959	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	20	0	ENST00000219368.3:c.*129T>C			ENST00000219368	NM_024306.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10911.1	.	MUTECT|MUSE	.	CCACTAGGCTG	NONE	.	.	.	.	.	ENSP00000219368	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000219368	Transcript	.	.	ENSG00000103089	21197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA2H_HUMAN	FA2H	HGNC	B7Z8T6_HUMAN	.	UPI000013C77C	SNV	FA2H,3_prime_UTR_variant,,ENST00000544337,;FA2H,3_prime_UTR_variant,,ENST00000219368,;FA2H,downstream_gene_variant,,ENST00000569949,;FA2H,3_prime_UTR_variant,,ENST00000567683,;FA2H,non_coding_transcript_exon_variant,,ENST00000562145,;	1318	20	11	SUCCESS
RBFOX1	54715	.	GRCh37	16	7760804	7760804	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs775753239	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	17	41	0	ENST00000547338.1:c.*57G>T			ENST00000547338	NM_001142334.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10531.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGAGTAT	NONE	.	.	.	.	.	ENSP00000309117	.	13/13	.	.	.	.	.	.	.	.	rs775753239	13/13	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,3_prime_UTR_variant,,ENST00000553186,;RBFOX1,3_prime_UTR_variant,,ENST00000355637,;RBFOX1,3_prime_UTR_variant,,ENST00000340209,;RBFOX1,3_prime_UTR_variant,,ENST00000567470,;RBFOX1,3_prime_UTR_variant,,ENST00000547338,;RBFOX1,3_prime_UTR_variant,,ENST00000311745,;RBFOX1,3_prime_UTR_variant,,ENST00000436368,;RBFOX1,3_prime_UTR_variant,,ENST00000550418,;RBFOX1,3_prime_UTR_variant,,ENST00000547372,;RBFOX1,downstream_gene_variant,,ENST00000535565,;RBFOX1,downstream_gene_variant,,ENST00000552089,;RBFOX1,downstream_gene_variant,,ENST00000422070,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	1566	41	33	SUCCESS
DHRS11	79154	.	GRCh37	17	34956754	34956754	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	37	0	ENST00000251312.5:c.*122A>T			ENST00000251312	NM_024308.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11315.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTAGAAAA	NONE	.	.	.	.	.	ENSP00000251312	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000251312	Transcript	.	.	ENSG00000108272	28639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHR11_HUMAN	DHRS11	HGNC	K7EK68_HUMAN	.	UPI0000038A01	SNV	DHRS11,3_prime_UTR_variant,,ENST00000590554,;DHRS11,3_prime_UTR_variant,,ENST00000585376,;DHRS11,3_prime_UTR_variant,,ENST00000251312,;DHRS11,downstream_gene_variant,,ENST00000491046,;MRM1,upstream_gene_variant,,ENST00000585770,;MRM1,upstream_gene_variant,,ENST00000250156,;DHRS11,downstream_gene_variant,,ENST00000394445,;DHRS11,non_coding_transcript_exon_variant,,ENST00000593204,;DHRS11,non_coding_transcript_exon_variant,,ENST00000586848,;DHRS11,downstream_gene_variant,,ENST00000590527,;	1117	37	38	SUCCESS
CACNA1G	8913	.	GRCh37	17	48704263	48704263	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	28	0	ENST00000359106.5:c.*151A>C			ENST00000359106	NM_018896.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45730.1	.	MUTECT|MUSE	.	CAAGCAGAACT	NONE	.	.	.	.	.	ENSP00000352011	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000359106	Transcript	.	.	ENSG00000006283	1394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAC1G_HUMAN	CACNA1G	HGNC	.	.	UPI000012727A	SNV	CACNA1G,3_prime_UTR_variant,,ENST00000358244,;CACNA1G,3_prime_UTR_variant,,ENST00000360761,;CACNA1G,3_prime_UTR_variant,,ENST00000354983,;CACNA1G,3_prime_UTR_variant,,ENST00000442258,;CACNA1G,3_prime_UTR_variant,,ENST00000359106,;CACNA1G,3_prime_UTR_variant,,ENST00000352832,;CACNA1G,3_prime_UTR_variant,,ENST00000429973,;CACNA1G,downstream_gene_variant,,ENST00000515165,;CACNA1G,downstream_gene_variant,,ENST00000513689,;CACNA1G,downstream_gene_variant,,ENST00000507510,;CACNA1G,downstream_gene_variant,,ENST00000514717,;CACNA1G,downstream_gene_variant,,ENST00000513964,;CACNA1G,downstream_gene_variant,,ENST00000515765,;CACNA1G,downstream_gene_variant,,ENST00000502264,;CACNA1G,downstream_gene_variant,,ENST00000514181,;CACNA1G,downstream_gene_variant,,ENST00000507336,;CACNA1G,downstream_gene_variant,,ENST00000510366,;CACNA1G,downstream_gene_variant,,ENST00000505165,;CACNA1G,downstream_gene_variant,,ENST00000510115,;CACNA1G,downstream_gene_variant,,ENST00000512389,;CACNA1G,downstream_gene_variant,,ENST00000514079,;CACNA1G,downstream_gene_variant,,ENST00000507896,;CACNA1G,downstream_gene_variant,,ENST00000515411,;CACNA1G,downstream_gene_variant,,ENST00000507609,;CACNA1G,downstream_gene_variant,,ENST00000503485,;CTB-22K21.2,downstream_gene_variant,,ENST00000502435,;CACNA1G,downstream_gene_variant,,ENST00000504076,;CACNA1G,downstream_gene_variant,,ENST00000511765,;CACNA1G,downstream_gene_variant,,ENST00000511768,;CACNA1G,downstream_gene_variant,,ENST00000503436,;CACNA1G,downstream_gene_variant,,ENST00000503607,;CACNA1G,downstream_gene_variant,,ENST00000506406,;	7285	28	18	SUCCESS
SKA2	348235	.	GRCh37	17	57189391	57189391	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	42	0	ENST00000330137.7:c.*247G>A			ENST00000330137	NM_182620.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45747.1	.	MUTECT|MUSE	.	GTGTGCATGCG	NONE	.	.	.	.	.	ENSP00000333433	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330137	Transcript	.	.	ENSG00000182628	28006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SKA2_HUMAN	SKA2	HGNC	J3QL03_HUMAN	.	UPI0000070DA6	SNV	SKA2,3_prime_UTR_variant,,ENST00000580541,;SKA2,3_prime_UTR_variant,,ENST00000581068,;SKA2,3_prime_UTR_variant,,ENST00000330137,;SKA2,3_prime_UTR_variant,,ENST00000578105,;SKA2,downstream_gene_variant,,ENST00000437036,;SKA2,downstream_gene_variant,,ENST00000583380,;AC099850.1,intron_variant,,ENST00000451775,;SKA2,non_coding_transcript_exon_variant,,ENST00000583927,;SKA2,3_prime_UTR_variant,,ENST00000578519,;SKA2,downstream_gene_variant,,ENST00000583976,;	719	42	35	SUCCESS
GNA13	10672	.	GRCh37	17	63010282	63010282	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	19	48	0	ENST00000439174.2:c.*93A>T			ENST00000439174	NM_006572.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11661.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTAATTC	NONE	.	.	.	.	.	ENSP00000400717	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000439174	Transcript	.	.	ENSG00000120063	4381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNA13_HUMAN	GNA13	HGNC	F5H1G8_HUMAN	.	UPI0000073EBA	SNV	GNA13,3_prime_UTR_variant,,ENST00000541118,;GNA13,3_prime_UTR_variant,,ENST00000439174,;	1473	48	46	SUCCESS
PDE6G	5148	.	GRCh37	17	79617968	79617968	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	32	0	ENST00000331056.5:c.*136T>A			ENST00000331056	NM_002602.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11783.1	.	MUTECT|MUSE|VARSCANS	.	GGGAGACCTGA	NONE	.	.	.	.	.	ENSP00000328412	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000331056	Transcript	.	.	ENSG00000185527	8789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CNRG_HUMAN	PDE6G	HGNC	.	.	UPI0000127C39	SNV	PDE6G,3_prime_UTR_variant,,ENST00000573076,;PDE6G,3_prime_UTR_variant,,ENST00000574024,;PDE6G,3_prime_UTR_variant,,ENST00000331056,;PDE6G,3_prime_UTR_variant,,ENST00000571224,;PDE6G,downstream_gene_variant,,ENST00000571004,;TSPAN10,downstream_gene_variant,,ENST00000328585,;PDE6G,non_coding_transcript_exon_variant,,ENST00000574777,;TSPAN10,downstream_gene_variant,,ENST00000540189,;TSPAN10,downstream_gene_variant,,ENST00000571707,;NPLOC4,upstream_gene_variant,,ENST00000570300,;TSPAN10,downstream_gene_variant,,ENST00000572675,;	544	32	25	SUCCESS
ME2	4200	.	GRCh37	18	48473744	48473744	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	20	0	ENST00000321341.5:c.*190C>A			ENST00000321341	NM_002396.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11948.1	.	MUTECT|MUSE	.	ACCAGCACCCT	NONE	.	.	.	.	.	ENSP00000321070	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000321341	Transcript	.	.	ENSG00000082212	6984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAOM_HUMAN	ME2	HGNC	.	.	UPI000012EBAA	SNV	ME2,3_prime_UTR_variant,,ENST00000382927,;ME2,3_prime_UTR_variant,,ENST00000321341,;ME2,non_coding_transcript_exon_variant,,ENST00000585680,;ME2,downstream_gene_variant,,ENST00000591925,;	2217	20	12	SUCCESS
RPL21P126	100271449	.	GRCh37	18	53303052	53303052	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	37	116	0				ENST00000470049		26		0	.	.	.	.	.	A	Y/F	protein_coding	YES	CCDS58631.1	77	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGTAATTT	NONE	.	.	.	.	.	ENSP00000381382	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000398339	Transcript	.	.	ENSG00000196628	11634	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	.	TCF4	HGNC	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN,E9PH57_HUMAN	.	UPI000059D58C	SNV	TCF4,missense_variant,p.Tyr26Phe,ENST00000398339,;TCF4,missense_variant,p.Tyr26Phe,ENST00000565124,;TCF4,5_prime_UTR_variant,,ENST00000569357,;TCF4,intron_variant,,ENST00000568169,;TCF4,upstream_gene_variant,,ENST00000565393,;RPL21P126,upstream_gene_variant,,ENST00000470049,;	134	116	108	SUCCESS
ZNF491	126069	.	GRCh37	19	11918796	11918796	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	68	130	0	ENST00000323169.5:c.*714A>G			ENST00000323169	NM_152356.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12267.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTATCCAC	NONE	.	.	.	.	.	ENSP00000313443	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000323169	Transcript	.	.	ENSG00000177599	23706	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN491_HUMAN	ZNF491	HGNC	C9IYV0_HUMAN	.	UPI000006D12C	SNV	ZNF491,3_prime_UTR_variant,,ENST00000323169,;ZNF491,downstream_gene_variant,,ENST00000450087,;ZNF491,intron_variant,,ENST00000492230,;	2359	130	132	SUCCESS
ZNF709	163051	.	GRCh37	19	12574632	12574632	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	27	0	ENST00000397732.3:c.*178A>T			ENST00000397732	NM_152601.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GCTACTCAGGA	NONE	.	.	.	.	.	ENSP00000404127	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000428311	Transcript	.	.	ENSG00000196826	20629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF709	Uniprot_gn	.	.	UPI000006CF50	SNV	ZNF709,3_prime_UTR_variant,,ENST00000428311,;ZNF709,3_prime_UTR_variant,,ENST00000397732,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	2246	27	26	SUCCESS
ZNF780A	284323	.	GRCh37	19	40578948	40578948	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	23	0				ENST00000340963				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46079.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACAATGGCTA	NONE	.	.	.	.	.	ENSP00000400997	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000455521	Transcript	.	.	ENSG00000197782	27603	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z780A_HUMAN	ZNF780A	HGNC	.	.	UPI0001881B53	SNV	ZNF780A,3_prime_UTR_variant,,ENST00000450241,;ZNF780A,3_prime_UTR_variant,,ENST00000455521,;ZNF780A,intron_variant,,ENST00000414720,;ZNF780A,downstream_gene_variant,,ENST00000594395,;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000340963,;ZNF780A,downstream_gene_variant,,ENST00000599972,;ZNF780A,downstream_gene_variant,,ENST00000595687,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;ZNF780A,downstream_gene_variant,,ENST00000599368,;	3552	23	35	SUCCESS
CABP5	56344	.	GRCh37	19	48551497	48551497	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	33	0				ENST00000293255	NM_019855.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59403.1	.	MUTECT|MUSE	.	AAGGCCATGAA	NONE	.	.	.	.	.	ENSP00000472546	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000599111	Transcript	.	.	ENSG00000105499	9037	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PA24C_HUMAN	PLA2G4C	HGNC	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN	.	UPI00019A89DE	SNV	PLA2G4C,3_prime_UTR_variant,,ENST00000599111,;PLA2G4C,3_prime_UTR_variant,,ENST00000354276,;PLA2G4C,downstream_gene_variant,,ENST00000599921,;PLA2G4C,downstream_gene_variant,,ENST00000413144,;CABP5,upstream_gene_variant,,ENST00000293255,;AC010458.1,downstream_gene_variant,,ENST00000408668,;PLA2G4C,downstream_gene_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000594790,;CABP5,upstream_gene_variant,,ENST00000602032,;	2061	34	17	SUCCESS
NLRP12	91662	.	GRCh37	19	54297095	54297095	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	14	0	ENST00000324134.6:c.*208A>G			ENST00000324134	NM_144687.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12864.1	.	MUTECT|MUSE	.	CGGCCTCTCGA	NONE	.	.	.	.	.	ENSP00000319377	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000324134	Transcript	1	.	ENSG00000142405	22938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAL12_HUMAN	NLRP12	HGNC	.	.	UPI00001412CE	SNV	NLRP12,3_prime_UTR_variant,,ENST00000391772,;NLRP12,3_prime_UTR_variant,,ENST00000345770,;NLRP12,3_prime_UTR_variant,,ENST00000351894,;NLRP12,3_prime_UTR_variant,,ENST00000535162,;NLRP12,3_prime_UTR_variant,,ENST00000391775,;NLRP12,3_prime_UTR_variant,,ENST00000354278,;NLRP12,3_prime_UTR_variant,,ENST00000324134,;NLRP12,3_prime_UTR_variant,,ENST00000391773,;AC008753.4,downstream_gene_variant,,ENST00000597420,;NLRP12,non_coding_transcript_exon_variant,,ENST00000492915,;	3563	14	9	SUCCESS
ZSCAN1	284312	.	GRCh37	19	58565470	58565470	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	20	0	ENST00000282326.1:c.*51T>A			ENST00000282326	NM_182572.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12969.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCTGATGG	NONE	.	.	.	.	.	ENSP00000282326	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000282326	Transcript	.	.	ENSG00000152467	23712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSCA1_HUMAN	ZSCAN1	HGNC	.	.	UPI000013DCD2	SNV	ZSCAN1,3_prime_UTR_variant,,ENST00000282326,;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;	1525	20	35	SUCCESS
UBL4B	164153	.	GRCh37	1	110655689	110655689	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	137	0	ENST00000334179.3:c.*8A>G			ENST00000334179	NM_203412.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS820.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCATCCTA	NONE	.	.	.	.	.	ENSP00000334044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334179	Transcript	.	.	ENSG00000186150	32309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBL4B_HUMAN	UBL4B	HGNC	.	.	UPI0000072926	SNV	UBL4B,3_prime_UTR_variant,,ENST00000334179,;RP4-773N10.6,downstream_gene_variant,,ENST00000554808,;	628	137	119	SUCCESS
ANP32E	81611	.	GRCh37	1	150192905	150192905	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	61	45	0	ENST00000314136.8:c.*88A>G			ENST00000314136	NM_001136478.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS946.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTGTAGGGA	NONE	.	.	.	.	.	ENSP00000324074	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000314136	Transcript	.	.	ENSG00000143401	16673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN32E_HUMAN	ANP32E	HGNC	Q53F20_HUMAN	.	UPI0000071679	SNV	ANP32E,3_prime_UTR_variant,,ENST00000533654,;ANP32E,3_prime_UTR_variant,,ENST00000369114,;ANP32E,3_prime_UTR_variant,,ENST00000534437,;ANP32E,3_prime_UTR_variant,,ENST00000436748,;ANP32E,3_prime_UTR_variant,,ENST00000369119,;ANP32E,3_prime_UTR_variant,,ENST00000369116,;ANP32E,3_prime_UTR_variant,,ENST00000369115,;ANP32E,3_prime_UTR_variant,,ENST00000314136,;	1265	45	91	SUCCESS
RIIAD1	284485	.	GRCh37	1	151701365	151701365	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	9	43	0	ENST00000479191.1:c.*53T>A			ENST00000479191	NM_001144956.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53368.1	.	RADIA|MUTECT|MUSE	.	CAGCCTCGGGG	NONE	.	.	.	.	.	ENSP00000419249	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000479191	Transcript	.	.	ENSG00000178796	26686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RIAD1_HUMAN	RIIAD1	HGNC	.	.	UPI00001D7CA9	SNV	RIIAD1,3_prime_UTR_variant,,ENST00000326413,;RIIAD1,3_prime_UTR_variant,,ENST00000479191,;AL589765.1,3_prime_UTR_variant,,ENST00000442233,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000451484,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000451222,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000426175,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000427205,;	332	43	66	SUCCESS
LCE2A	353139	.	GRCh37	1	152671881	152671881	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	29	102	0	ENST00000368779.1:c.*183C>A			ENST00000368779	NM_178428.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1021.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTACCTCAT	NONE	.	.	.	.	.	ENSP00000357768	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368779	Transcript	.	.	ENSG00000187173	29469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE2A_HUMAN	LCE2A	HGNC	.	.	UPI00001927D5	SNV	LCE2A,3_prime_UTR_variant,,ENST00000368779,;	555	102	144	SUCCESS
SLC25A44	9673	.	GRCh37	1	156180360	156180360	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	19	46	0	ENST00000359511.4:c.*138G>A			ENST00000359511	NM_014655.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1133.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGGGATAGA	NONE	.	.	.	.	.	ENSP00000352497	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000359511	Transcript	.	.	ENSG00000160785	29036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2544_HUMAN	SLC25A44	HGNC	.	.	UPI0000073CAD	SNV	SLC25A44,3_prime_UTR_variant,,ENST00000423538,;SLC25A44,3_prime_UTR_variant,,ENST00000359511,;PMF1,upstream_gene_variant,,ENST00000567140,;PMF1-BGLAP,upstream_gene_variant,,ENST00000368276,;PMF1,upstream_gene_variant,,ENST00000368273,;PMF1-BGLAP,upstream_gene_variant,,ENST00000490491,;PMF1,upstream_gene_variant,,ENST00000565805,;PMF1,upstream_gene_variant,,ENST00000368277,;PMF1,upstream_gene_variant,,ENST00000368279,;PMF1-BGLAP,upstream_gene_variant,,ENST00000320139,;SLC25A44,non_coding_transcript_exon_variant,,ENST00000469537,;SLC25A44,downstream_gene_variant,,ENST00000468973,;PMF1,upstream_gene_variant,,ENST00000606952,;PMF1,upstream_gene_variant,,ENST00000497069,;PMF1,upstream_gene_variant,,ENST00000466489,;	1255	46	80	SUCCESS
SLAMF1	6504	.	GRCh37	1	160580406	160580406	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	10	39	0	ENST00000302035.6:c.*132T>G			ENST00000302035	NM_003037.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1207.1	.	MUTECT|MUSE	.	TCACCAGGGAG	NONE	.	.	.	.	.	ENSP00000306190	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000302035	Transcript	.	.	ENSG00000117090	10903	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAF1_HUMAN	SLAMF1	HGNC	Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN	.	UPI0000047630	SNV	SLAMF1,3_prime_UTR_variant,,ENST00000235739,;SLAMF1,3_prime_UTR_variant,,ENST00000302035,;SLAMF1,downstream_gene_variant,,ENST00000538290,;	1490	39	68	SUCCESS
TMEM9	252839	.	GRCh37	1	201104739	201104739	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	307	20	204	0	ENST00000367330.1:c.*52A>T			ENST00000367330	NM_001288565.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1408.1	.	MUTECT|MUSE	.	CAGCCTGGAAG	NONE	.	.	.	.	.	ENSP00000356299	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367330	Transcript	.	.	ENSG00000116857	18823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMEM9_HUMAN	TMEM9	HGNC	Q6FIF9_HUMAN,B1ALM7_HUMAN	.	UPI000003B08A	SNV	TMEM9,3_prime_UTR_variant,,ENST00000367330,;TMEM9,3_prime_UTR_variant,,ENST00000367333,;TMEM9,3_prime_UTR_variant,,ENST00000367334,;TMEM9,3_prime_UTR_variant,,ENST00000485839,;TMEM9,3_prime_UTR_variant,,ENST00000367332,;TMEM9,downstream_gene_variant,,ENST00000414605,;TMEM9,downstream_gene_variant,,ENST00000435310,;TMEM9,downstream_gene_variant,,ENST00000455367,;TMEM9,non_coding_transcript_exon_variant,,ENST00000495205,;TMEM9,non_coding_transcript_exon_variant,,ENST00000472411,;TMEM9,downstream_gene_variant,,ENST00000497582,;	1121	204	327	SUCCESS
PHLDA3	23612	.	GRCh37	1	201437486	201437486	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs745604012	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	25	68	0	ENST00000367309.1:c.*45G>T			ENST00000367309				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1412.1	.	MUTECT|MUSE	.	CAGCACTGAGG	NONE	byFrequency	.	.	.	.	ENSP00000356280	.	1/2	.	.	.	.	.	.	.	.	rs745604012	1/2	PASS	ENST00000367311	Transcript	.	.	ENSG00000174307	8934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PHLA3_HUMAN	PHLDA3	HGNC	.	.	UPI00000716DA	SNV	PHLDA3,3_prime_UTR_variant,,ENST00000367309,;PHLDA3,3_prime_UTR_variant,,ENST00000367311,;RP11-134G8.8,upstream_gene_variant,,ENST00000430471,;PHLDA3,non_coding_transcript_exon_variant,,ENST00000485436,;PHLDA3,upstream_gene_variant,,ENST00000497057,;	827	68	145	SUCCESS
TLR5	7100	.	GRCh37	1	223283705	223283705	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1037317070	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	24	0	ENST00000366881.1:c.*92G>T			ENST00000366881	NM_003268.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACCTCCA	NONE	.	.	.	.	.	ENSP00000440643	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000540964	Transcript	.	.	ENSG00000187554	11851	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLR5_HUMAN	TLR5	HGNC	B1AZ06_HUMAN	.	UPI0000205D14	SNV	TLR5,3_prime_UTR_variant,,ENST00000366881,;TLR5,3_prime_UTR_variant,,ENST00000540964,;TLR5,downstream_gene_variant,,ENST00000407096,;TLR5,downstream_gene_variant,,ENST00000342210,;	3131	24	53	SUCCESS
ZNF684	127396	.	GRCh37	1	41013241	41013241	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	21	0	ENST00000372699.3:c.*109A>T			ENST00000372699	NM_152373.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS454.1	.	MUTECT|MUSE	.	AGAGTAGATTC	NONE	.	.	.	.	.	ENSP00000361784	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372699	Transcript	.	.	ENSG00000117010	28418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN684_HUMAN	ZNF684	HGNC	.	.	UPI00000437E3	SNV	ZNF684,3_prime_UTR_variant,,ENST00000372699,;ZNF684,downstream_gene_variant,,ENST00000372696,;ZNF684,downstream_gene_variant,,ENST00000372697,;ZNF684,non_coding_transcript_exon_variant,,ENST00000493756,;ZNF684,downstream_gene_variant,,ENST00000465152,;ZNF684,downstream_gene_variant,,ENST00000472043,;	1497	21	16	SUCCESS
DMRTA2	63950	.	GRCh37	1	50884318	50884318	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs577335433	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	63	1	ENST00000404795.3:c.*19C>T			ENST00000404795	NM_032110.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44141.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCCGGCTGC	NONE	.	.	.	.	.	ENSP00000383909	.	3/3	.	.	.	.	.	.	.	.	rs577335433	3/3	PASS	ENST00000404795	Transcript	.	.	ENSG00000142700	13908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DMTA2_HUMAN	DMRTA2	HGNC	.	.	UPI00003D7962	SNV	DMRTA2,3_prime_UTR_variant,,ENST00000418121,;DMRTA2,3_prime_UTR_variant,,ENST00000404795,;	2041	65	42	SUCCESS
LMO4	8543	.	GRCh37	1	87810654	87810654	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	14	0	ENST00000370542.1:c.*175G>T			ENST00000370542				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS713.1	.	MUTECT|MUSE	.	AAAATGACTGA	NONE	.	.	.	.	.	ENSP00000359575	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370544	Transcript	.	.	ENSG00000143013	6644	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LMO4_HUMAN	LMO4	HGNC	.	.	UPI0000004145	SNV	LMO4,3_prime_UTR_variant,,ENST00000370542,;LMO4,3_prime_UTR_variant,,ENST00000370544,;LMO4,non_coding_transcript_exon_variant,,ENST00000489303,;	1453	14	14	SUCCESS
KCNG1	3755	.	GRCh37	20	49620472	49620472	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	15	0	ENST00000371571.4:c.*104G>C			ENST00000371571	NM_002237.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13436.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCGCCAGGA	NONE	.	.	.	.	.	ENSP00000360626	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371571	Transcript	.	.	ENSG00000026559	6248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNG1_HUMAN	KCNG1	HGNC	Q5JXL4_HUMAN,A2A2I9_HUMAN,A2A2I8_HUMAN	.	UPI000012DC99	SNV	KCNG1,3_prime_UTR_variant,,ENST00000371571,;KCNG1,downstream_gene_variant,,ENST00000396017,;RP5-955M13.4,intron_variant,,ENST00000424566,;KCNG1,non_coding_transcript_exon_variant,,ENST00000506387,;	1932	15	16	SUCCESS
SLC5A3	6526	.	GRCh37	21	35472408	35472408	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	129	0	ENST00000381151.3:c.*2754A>G			ENST00000381151				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCAGAATT	NONE	.	.	.	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,3_prime_UTR_variant,,ENST00000608209,;SLC5A3,3_prime_UTR_variant,,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	5423	129	123	SUCCESS
CCDC117	150275	.	GRCh37	22	29182521	29182521	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	9	0	ENST00000249064.4:c.*207A>T			ENST00000249064	NM_173510.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13846.1	.	MUTECT|MUSE	.	AAAGCAGTTTT	NONE	.	.	.	.	.	ENSP00000249064	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000249064	Transcript	.	.	ENSG00000159873	26599	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC117_HUMAN	CCDC117	HGNC	F8WBN8_HUMAN,B7Z820_HUMAN,B0QYH3_HUMAN	.	UPI000007450B	SNV	CCDC117,3_prime_UTR_variant,,ENST00000443309,;CCDC117,3_prime_UTR_variant,,ENST00000421503,;CCDC117,3_prime_UTR_variant,,ENST00000249064,;CCDC117,downstream_gene_variant,,ENST00000448492,;CCDC117,downstream_gene_variant,,ENST00000432510,;CCDC117,downstream_gene_variant,,ENST00000453543,;	1223	9	9	SUCCESS
MGAT3	4248	.	GRCh37	22	39887461	39887461	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	25	49	0	ENST00000341184.6:c.*2507T>A			ENST00000341184	NM_002409.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13994.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTTGGCA	NONE	.	.	.	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,3_prime_UTR_variant,,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	4324	49	52	SUCCESS
FBLN7	129804	.	GRCh37	2	112945110	112945110	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	68	0	ENST00000331203.2:c.*27A>G			ENST00000331203	NM_001128165.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGAGAGCT	NONE	.	.	.	.	.	ENSP00000331411	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000331203	Transcript	.	.	ENSG00000144152	26740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBLN7_HUMAN	FBLN7	HGNC	B3KW35_HUMAN	.	UPI000004E556	SNV	FBLN7,missense_variant,p.Glu365Gly,ENST00000409903,;FBLN7,3_prime_UTR_variant,,ENST00000272559,;FBLN7,3_prime_UTR_variant,,ENST00000409450,;FBLN7,3_prime_UTR_variant,,ENST00000331203,;FBLN7,3_prime_UTR_variant,,ENST00000409667,;FBLN7,downstream_gene_variant,,ENST00000441565,;	1618	68	37	SUCCESS
GAD1	2571	.	GRCh37	2	171716437	171716437	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	49	126	0	ENST00000358196.3:c.*45T>A			ENST00000358196	NM_000817.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2239.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTGGCAC	NONE	.	.	.	.	.	ENSP00000350928	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000358196	Transcript	.	.	ENSG00000128683	4092	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCE1_HUMAN	GAD1	HGNC	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN	.	UPI000002D729	SNV	GAD1,3_prime_UTR_variant,,ENST00000358196,;GAD1,3_prime_UTR_variant,,ENST00000493875,;GAD1,non_coding_transcript_exon_variant,,ENST00000488724,;GAD1,non_coding_transcript_exon_variant,,ENST00000478562,;GAD1,downstream_gene_variant,,ENST00000414527,;	2380	126	115	SUCCESS
FZD7	8324	.	GRCh37	2	202901205	202901205	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	43	112	0	ENST00000286201.1:c.*110T>C			ENST00000286201	NM_003507.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2351.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTCTACTGA	NONE	.	.	.	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,3_prime_UTR_variant,,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	1896	112	103	SUCCESS
CCDC140	151278	.	GRCh37	2	223169909	223169909	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	40	143	0	ENST00000295226.1:c.*796C>A			ENST00000295226	NM_153038.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2452.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCATAAA	NONE	.	.	.	.	.	ENSP00000295226	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295226	Transcript	.	.	ENSG00000163081	26514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC140_HUMAN	CCDC140	HGNC	.	.	UPI000006ED1E	SNV	CCDC140,3_prime_UTR_variant,,ENST00000295226,;CCDC140,downstream_gene_variant,,ENST00000440903,;	1672	143	123	SUCCESS
SAG	6295	.	GRCh37	2	234255702	234255702	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	14	0				ENST00000409110	NM_000541.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46545.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGTCATG	NONE	.	1	.	.	.	ENSP00000386444	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409110	Transcript	.	.	ENSG00000130561	10521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARRS_HUMAN	SAG	HGNC	E7ESX4_HUMAN,A0FDN6_HUMAN	.	UPI000013CD8D	SNV	SAG,downstream_gene_variant,,ENST00000409110,;SAG,downstream_gene_variant,,ENST00000449594,;RP11-400N9.1,downstream_gene_variant,,ENST00000563747,;SAG,downstream_gene_variant,,ENST00000492629,;SAG,downstream_gene_variant,,ENST00000483231,;SAG,downstream_gene_variant,,ENST00000412969,;SAG,downstream_gene_variant,,ENST00000474220,;SAG,downstream_gene_variant,,ENST00000469222,;SAG,downstream_gene_variant,,ENST00000476500,;SAG,downstream_gene_variant,,ENST00000471884,;	.	14	25	SUCCESS
EIF2B4	8890	.	GRCh37	2	27587223	27587223	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	23	139	0	ENST00000347454.4:c.*44A>C			ENST00000347454	NM_015636.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46245.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGCTGAGGG	NONE	.	43	.	.	.	ENSP00000394869	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451130	Transcript	.	.	ENSG00000115211	3260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EI2BD_HUMAN	EIF2B4	HGNC	.	.	UPI0000366EE5	SNV	EIF2B4,3_prime_UTR_variant,,ENST00000347454,;EIF2B4,downstream_gene_variant,,ENST00000445933,;EIF2B4,downstream_gene_variant,,ENST00000451130,;EIF2B4,downstream_gene_variant,,ENST00000493344,;AC074117.10,intron_variant,,ENST00000412749,;AC074117.10,downstream_gene_variant,,ENST00000447070,;EIF2B4,downstream_gene_variant,,ENST00000475582,;EIF2B4,downstream_gene_variant,,ENST00000462749,;EIF2B4,downstream_gene_variant,,ENST00000478311,;EIF2B4,downstream_gene_variant,,ENST00000405940,;EIF2B4,downstream_gene_variant,,ENST00000418146,;EIF2B4,downstream_gene_variant,,ENST00000417567,;	.	139	108	SUCCESS
BTLA	151888	.	GRCh37	3	112184942	112184942	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	30	92	0	ENST00000334529.5:c.*13C>T			ENST00000334529	NM_181780.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33819.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGTCAGA	NONE	.	.	.	.	.	ENSP00000333919	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000334529	Transcript	.	.	ENSG00000186265	21087	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTLA_HUMAN	BTLA	HGNC	.	.	UPI0000209F49	SNV	BTLA,3_prime_UTR_variant,,ENST00000334529,;BTLA,downstream_gene_variant,,ENST00000383680,;BTLA,non_coding_transcript_exon_variant,,ENST00000474965,;BTLA,downstream_gene_variant,,ENST00000496584,;	1086	92	80	SUCCESS
LXN	56925	.	GRCh37	3	158384361	158384361	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	36	73	0	ENST00000264265.3:c.*74G>T			ENST00000264265	NM_020169.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3183.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTCATAAG	NONE	.	.	.	.	.	ENSP00000264265	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000264265	Transcript	.	.	ENSG00000079257	13347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LXN_HUMAN	LXN	HGNC	.	.	UPI000006FB86	SNV	LXN,3_prime_UTR_variant,,ENST00000264265,;GFM1,intron_variant,,ENST00000264263,;GFM1,intron_variant,,ENST00000478576,;GFM1,intron_variant,,ENST00000486715,;LXN,intron_variant,,ENST00000482640,;GFM1,downstream_gene_variant,,ENST00000490261,;GFM1,intron_variant,,ENST00000478254,;	958	73	78	SUCCESS
CSPG5	10675	.	GRCh37	3	47603952	47603952	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	25	27	0	ENST00000383738.2:c.*138T>C			ENST00000383738	NM_001206945.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACATAAAA	NONE	.	.	.	.	.	ENSP00000373244	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000383738	Transcript	.	.	ENSG00000114646	2467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSPG5_HUMAN	CSPG5	HGNC	B7Z2E0_HUMAN	.	UPI0000D61AFE	SNV	CSPG5,3_prime_UTR_variant,,ENST00000264723,;CSPG5,3_prime_UTR_variant,,ENST00000383738,;CSPG5,3_prime_UTR_variant,,ENST00000456150,;RN7SL870P,upstream_gene_variant,,ENST00000460111,;	3938	27	30	SUCCESS
FSTL5	56884	.	GRCh37	4	162306860	162306860	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	47	88	0	ENST00000306100.5:c.*39A>T			ENST00000306100	NM_001128427.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3802.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTATTGTAA	NONE	.	.	.	.	.	ENSP00000305334	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000306100	Transcript	.	.	ENSG00000168843	21386	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,3_prime_UTR_variant,,ENST00000379164,;FSTL5,3_prime_UTR_variant,,ENST00000306100,;FSTL5,downstream_gene_variant,,ENST00000536695,;FSTL5,downstream_gene_variant,,ENST00000427802,;RP11-234O6.2,intron_variant,,ENST00000508189,;	3020	88	86	SUCCESS
TRAPPC11	60684	.	GRCh37	4	184633990	184633990	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	13	0	ENST00000334690.6:c.*193A>G			ENST00000334690	NM_021942.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34112.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAATAAATAT	NONE	.	.	.	.	.	ENSP00000335371	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000334690	Transcript	1	.	ENSG00000168538	25751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPC11_HUMAN	TRAPPC11	HGNC	.	.	UPI000020B774	SNV	TRAPPC11,3_prime_UTR_variant,,ENST00000512476,;TRAPPC11,3_prime_UTR_variant,,ENST00000334690,;TRAPPC11,3_prime_UTR_variant,,ENST00000357207,;TRAPPC11,3_prime_UTR_variant,,ENST00000505676,;TRAPPC11,non_coding_transcript_exon_variant,,ENST00000511955,;	3797	13	14	SUCCESS
SLC25A4	291	.	GRCh37	4	186068258	186068258	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1804551	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	34	1	ENST00000281456.6:c.*133C>T			ENST00000281456	NM_001151.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34114.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATACCTCAGA	NONE	.	.	.	.	.	ENSP00000281456	.	4/4	.	.	.	.	.	.	.	.	rs1804551	4/4	PASS	ENST00000281456	Transcript	1	.	ENSG00000151729	10990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ADT1_HUMAN	SLC25A4	HGNC	.	.	UPI0000125612	SNV	SLC25A4,3_prime_UTR_variant,,ENST00000281456,;SLC25A4,3_prime_UTR_variant,,ENST00000491736,;	1162	35	14	SUCCESS
RHOH	399	.	GRCh37	4	40245945	40245945	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs909374782	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	64	152	0	ENST00000381799.5:c.*363T>C			ENST00000381799	NM_004310.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3458.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATATATTTA	NONE	.	.	.	.	.	ENSP00000371219	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381799	Transcript	1	.	ENSG00000168421	686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOH_HUMAN	RHOH	HGNC	Q6ICP4_HUMAN,D6RG23_HUMAN,D6RA52_HUMAN	.	UPI0000133892	SNV	RHOH,3_prime_UTR_variant,,ENST00000381799,;RHOH,downstream_gene_variant,,ENST00000503941,;RHOH,downstream_gene_variant,,ENST00000508513,;RHOH,downstream_gene_variant,,ENST00000505618,;RHOH,downstream_gene_variant,,ENST00000507851,;RHOH,downstream_gene_variant,,ENST00000511121,;RHOH,downstream_gene_variant,,ENST00000504638,;RHOH,downstream_gene_variant,,ENST00000515503,;RHOH,downstream_gene_variant,,ENST00000515702,;RHOH,downstream_gene_variant,,ENST00000511967,;RHOH,downstream_gene_variant,,ENST00000503754,;RHOH,downstream_gene_variant,,ENST00000515718,;RHOH,downstream_gene_variant,,ENST00000513894,;RHOH,downstream_gene_variant,,ENST00000503978,;	1663	152	194	SUCCESS
EREG	2069	.	GRCh37	4	75250573	75250573	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	5	109	0	ENST00000244869.2:c.*48T>C			ENST00000244869	NM_001432.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3564.1	.	MUTECT|MUSE	.	GTTAATATTAA	NONE	.	.	.	.	.	ENSP00000244869	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000244869	Transcript	.	.	ENSG00000124882	3443	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EREG_HUMAN	EREG	HGNC	.	.	UPI0000047266	SNV	EREG,3_prime_UTR_variant,,ENST00000244869,;EREG,non_coding_transcript_exon_variant,,ENST00000503689,;EREG,downstream_gene_variant,,ENST00000507603,;	724	109	113	SUCCESS
SHROOM1	134549	.	GRCh37	5	132158362	132158362	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1348289947	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	36	0	ENST00000378679.3:c.*126A>C			ENST00000378679	NM_001172700.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54902.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGTATCTT	NONE	.	.	.	.	.	ENSP00000367950	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000378679	Transcript	.	.	ENSG00000164403	24084	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHRM1_HUMAN	SHROOM1	HGNC	C9JXU1_HUMAN	.	UPI000036FD4D	SNV	SHROOM1,3_prime_UTR_variant,,ENST00000319854,;SHROOM1,3_prime_UTR_variant,,ENST00000378679,;SHROOM1,downstream_gene_variant,,ENST00000440118,;SHROOM1,downstream_gene_variant,,ENST00000378676,;AC004775.5,upstream_gene_variant,,ENST00000607389,;SHROOM1,downstream_gene_variant,,ENST00000488072,;SHROOM1,downstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;	3490	36	39	SUCCESS
HRH2	3274	.	GRCh37	5	175112498	175112498	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	81	262	1				ENST00000231683	NM_022304.2	388		0	.	.	.	.	.	T	H/L	protein_coding	YES	CCDS47344.1	1163	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCATCCAA	NONE	.	.	.	.	.	ENSP00000366506	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377291	Transcript	.	.	ENSG00000113749	5183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.65)	.	HRH2_HUMAN	HRH2	HGNC	.	.	UPI00001B2326	SNV	HRH2,missense_variant,p.His388Leu,ENST00000377291,;HRH2,downstream_gene_variant,,ENST00000231683,;	1814	263	191	SUCCESS
C7	730	.	GRCh37	5	40981757	40981757	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	26	0	ENST00000313164.9:c.*82G>T			ENST00000313164	NM_000587.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47201.1	.	MUTECT|MUSE	.	GCACTGGACAG	NONE	.	.	.	.	.	ENSP00000322061	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000313164	Transcript	1	.	ENSG00000112936	1346	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO7_HUMAN	C7	HGNC	.	.	UPI000020CA08	SNV	C7,3_prime_UTR_variant,,ENST00000313164,;C7,downstream_gene_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000464864,;C7,downstream_gene_variant,,ENST00000513922,;	2973	26	36	SUCCESS
MARVELD2	153562	.	GRCh37	5	68737744	68737744	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	9	0	ENST00000325631.5:c.*263T>C			ENST00000325631	NM_001038603.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34175.1	.	MUTECT|MUSE|VARSCANS	.	ACTTTTTTTAA	NONE	.	.	.	.	.	ENSP00000323264	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000325631	Transcript	1	.	ENSG00000152939	26401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MALD2_HUMAN	MARVELD2	HGNC	D6RAH8_HUMAN,D6RA09_HUMAN	.	UPI00001416EB	SNV	MARVELD2,3_prime_UTR_variant,,ENST00000454295,;MARVELD2,3_prime_UTR_variant,,ENST00000325631,;MARVELD2,intron_variant,,ENST00000413223,;MARVELD2,downstream_gene_variant,,ENST00000512803,;MARVELD2,downstream_gene_variant,,ENST00000436532,;	2014	9	16	SUCCESS
GPX5	2880	.	GRCh37	6	28501974	28501974	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs780148040	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	34	75	0	ENST00000412168.2:c.*30T>G			ENST00000412168	NM_001509.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCTACTTC	NONE	byFrequency	.	.	.	.	ENSP00000392398	.	5/5	.	.	.	.	.	.	.	.	rs780148040	5/5	PASS	ENST00000412168	Transcript	.	.	ENSG00000224586	4557	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPX5_HUMAN	GPX5	HGNC	.	.	UPI0000031FD7	SNV	GPX5,3_prime_UTR_variant,,ENST00000412168,;GPX5,downstream_gene_variant,,ENST00000469384,;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,downstream_gene_variant,,ENST00000483784,;	785	75	152	SUCCESS
MUC21	394263	.	GRCh37	6	30956084	30956084	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	26	0	ENST00000376296.3:c.*113T>A			ENST00000376296	NM_001010909.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34388.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCCTGAAAA	NONE	.	.	.	.	.	ENSP00000365473	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376296	Transcript	.	.	ENSG00000204544	21661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC21_HUMAN	MUC21	HGNC	.	.	UPI000047030C	SNV	MUC21,3_prime_UTR_variant,,ENST00000376296,;MUC21,3_prime_UTR_variant,,ENST00000486149,;	2055	26	50	SUCCESS
PNPLA1	285848	.	GRCh37	6	36275745	36275745	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	14	0	ENST00000394571.2:c.*252A>C			ENST00000394571	NM_001145717.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54997.1	.	MUTECT|MUSE	.	TTGTGAGAGTT	NONE	.	.	.	.	.	ENSP00000378072	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000394571	Transcript	.	.	ENSG00000180316	21246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLPL1_HUMAN	PNPLA1	HGNC	B8XXQ3_HUMAN	.	UPI000189560E	SNV	PNPLA1,3_prime_UTR_variant,,ENST00000394571,;PNPLA1,3_prime_UTR_variant,,ENST00000388715,;PNPLA1,downstream_gene_variant,,ENST00000312917,;PNPLA1,downstream_gene_variant,,ENST00000457797,;	1851	14	27	SUCCESS
BYSL	705	.	GRCh37	6	41888853	41888853	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	37	69	0				ENST00000230340	NM_004053.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4862.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGTCTCA	NONE	.	16	.	.	.	ENSP00000265350	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265350	Transcript	.	.	ENSG00000124641	16840	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED20_HUMAN	MED20	HGNC	B3KUJ9_HUMAN,A6PVP4_HUMAN	.	UPI0000073C85	SNV	MED20,5_prime_UTR_variant,,ENST00000409312,;MED20,upstream_gene_variant,,ENST00000409060,;MED20,upstream_gene_variant,,ENST00000434077,;MED20,upstream_gene_variant,,ENST00000265350,;MED20,upstream_gene_variant,,ENST00000394251,;BYSL,upstream_gene_variant,,ENST00000230340,;Y_RNA,upstream_gene_variant,,ENST00000384641,;MED20,non_coding_transcript_exon_variant,,ENST00000482361,;MED20,upstream_gene_variant,,ENST00000467535,;BYSL,upstream_gene_variant,,ENST00000489290,;BYSL,upstream_gene_variant,,ENST00000494032,;BYSL,upstream_gene_variant,,ENST00000475702,;	.	69	149	SUCCESS
C6orf141	135398	.	GRCh37	6	49519475	49519475	+	intron_variant,NMD_transcript_variant	Intron	SNP	T	T	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	197	65	141	1	ENST00000371194.3:c.*148+87T>G			ENST00000371194				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55018.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATATTTTCAG	NONE	.	.	.	.	.	ENSP00000434602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000529246	Transcript	.	.	ENSG00000197261	21351	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF141_HUMAN	C6orf141	HGNC	.	.	UPI000013E9DC	SNV	C6orf141,3_prime_UTR_variant,,ENST00000529246,;C6orf141,intron_variant,,ENST00000424426,;C6orf141,intron_variant,,ENST00000415078,;C6orf141,intron_variant,,ENST00000414696,;C6orf141,intron_variant,,ENST00000371194,;C6orf141,upstream_gene_variant,,ENST00000530382,;C6orf141,upstream_gene_variant,,ENST00000526429,;	1363	142	262	SUCCESS
RP11-472M19.2	0	.	GRCh37	6	56708034	56708034	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	25	48	0				ENST00000426453				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGGAACTG	NONE	.	766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000426453	Transcript	.	.	ENSG00000231441	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-472M19.2	Clone_based_vega_gene	.	.	.	SNV	DST,5_prime_UTR_variant,,ENST00000370788,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000449297,;DST,intron_variant,,ENST00000370754,;DST,upstream_gene_variant,,ENST00000361203,;DST,upstream_gene_variant,,ENST00000370769,;DST,upstream_gene_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000523817,;DST,upstream_gene_variant,,ENST00000421834,;RP11-472M19.2,upstream_gene_variant,,ENST00000426453,;DST,intron_variant,,ENST00000517937,;DST,intron_variant,,ENST00000523967,;DST,upstream_gene_variant,,ENST00000521821,;	.	48	92	SUCCESS
FUT9	10690	.	GRCh37	6	96659568	96659568	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	73	159	0	ENST00000302103.5:c.*7457G>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGTGTACAA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	8863	160	162	SUCCESS
CCNC	892	.	GRCh37	6	99991312	99991312	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	18	0	ENST00000520429.1:c.*119A>T			ENST00000520429	NM_005190.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34502.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTTCCAAT	NONE	.	.	.	.	.	ENSP00000428982	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000520429	Transcript	.	.	ENSG00000112237	1581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCNC_HUMAN	CCNC	HGNC	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN	.	UPI0000169CFB	SNV	CCNC,3_prime_UTR_variant,,ENST00000369220,;CCNC,3_prime_UTR_variant,,ENST00000520371,;CCNC,3_prime_UTR_variant,,ENST00000520429,;CCNC,downstream_gene_variant,,ENST00000524049,;CCNC,downstream_gene_variant,,ENST00000523985,;CCNC,downstream_gene_variant,,ENST00000518714,;CCNC,downstream_gene_variant,,ENST00000486428,;CCNC,downstream_gene_variant,,ENST00000523799,;CCNC,3_prime_UTR_variant,,ENST00000523961,;CCNC,3_prime_UTR_variant,,ENST00000326298,;CCNC,downstream_gene_variant,,ENST00000519617,;CCNC,downstream_gene_variant,,ENST00000484049,;	1417	18	14	SUCCESS
HOXA6	3203	.	GRCh37	7	27185230	27185230	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	14	0	ENST00000222728.3:c.*47G>C			ENST00000222728	NM_024014.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5407.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCAAAGC	NONE	.	.	.	.	.	ENSP00000222728	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000222728	Transcript	.	.	ENSG00000106006	5107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA6_HUMAN	HOXA6	HGNC	.	.	UPI000012CF32	SNV	HOXA6,3_prime_UTR_variant,,ENST00000222728,;HOXA5,upstream_gene_variant,,ENST00000222726,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA6,downstream_gene_variant,,ENST00000521478,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	774	14	24	SUCCESS
NPSR1	387129	.	GRCh37	7	34889443	34889443	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs558102109	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	20	0	ENST00000360581.1:c.*176A>T			ENST00000360581	NM_207172.1			0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS5443.1	.	MUTECT|MUSE	.	CCAACACGAAC	NONE	by1000G	.	.	G:0	.	ENSP00000352839	G:0	.	.	.	.	.	.	.	.	.	rs558102109	.	PASS	ENST00000359791	Transcript	.	G:0.0002	ENSG00000187258	23631	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	2	.	.	.	.	G:0.001	.	.	NPSR1_HUMAN	NPSR1	HGNC	.	.	UPI0000353D0F	SNV	NPSR1,3_prime_UTR_variant,,ENST00000381542,;NPSR1,3_prime_UTR_variant,,ENST00000360581,;NPSR1,intron_variant,,ENST00000359791,;NPSR1,intron_variant,,ENST00000531252,;NPSR1,downstream_gene_variant,,ENST00000381539,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1,3_prime_UTR_variant,,ENST00000381544,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;	.	20	11	SUCCESS
RBAK-RBAKDN	100533952	.	GRCh37	7	5112652	5112652	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	38	126	0	ENST00000396904.2:c.*132G>T			ENST00000396904	NM_001204513.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56463.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGCCGGG	NONE	.	.	.	.	.	ENSP00000380112	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000396904	Transcript	.	.	ENSG00000272968	42971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBAK_HUMAN	RBAK-RBAKDN	HGNC	.	.	UPI000173A231	SNV	RBAK-RBAKDN,missense_variant,p.Ala179Ser,ENST00000407184,;RBAK-RBAKDN,3_prime_UTR_variant,,ENST00000396904,;RBAK,downstream_gene_variant,,ENST00000396912,;RBAKDN,non_coding_transcript_exon_variant,,ENST00000498308,;	566	126	86	SUCCESS
CLDN12	9069	.	GRCh37	7	90044155	90044155	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	30	105	0	ENST00000287916.4:c.*1430G>A			ENST00000287916	NM_001185073.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5618.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTGATGAG	NONE	.	.	.	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	SNV	CLDN12,3_prime_UTR_variant,,ENST00000287916,;CLDN12,3_prime_UTR_variant,,ENST00000535571,;CLDN12,3_prime_UTR_variant,,ENST00000394605,;CLDN12,downstream_gene_variant,,ENST00000427904,;CLDN12,downstream_gene_variant,,ENST00000496677,;CLDN12,downstream_gene_variant,,ENST00000394604,;CLDN12,downstream_gene_variant,,ENST00000416322,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000462636,;	2474	105	90	SUCCESS
FAM83A	84985	.	GRCh37	8	124219942	124219942	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	21	23	0	ENST00000518448.1:c.*14T>A			ENST00000518448				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6340.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCTGCTGC	NONE	.	.	.	.	.	ENSP00000428876	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000518448	Transcript	.	.	ENSG00000147689	28210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA83A_HUMAN	FAM83A	HGNC	.	.	UPI000019275C	SNV	FAM83A,3_prime_UTR_variant,,ENST00000518448,;FAM83A,3_prime_UTR_variant,,ENST00000318462,;FAM83A,intron_variant,,ENST00000522648,;FAM83A,intron_variant,,ENST00000536633,;FAM83A,intron_variant,,ENST00000276699,;FAM83A,intron_variant,,ENST00000546351,;FAM83A-AS1,upstream_gene_variant,,ENST00000517519,;FAM83A-AS1,upstream_gene_variant,,ENST00000523330,;FAM83A-AS1,upstream_gene_variant,,ENST00000520576,;	3333	23	55	SUCCESS
OC90	729330	.	GRCh37	8	133036643	133036643	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	25	0	ENST00000254627.3:c.*85T>C			ENST00000254627	NM_001080399.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47919.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAAGGGAC	NONE	.	.	.	.	.	ENSP00000473802	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000603859	Transcript	.	.	ENSG00000258417	8100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OC90	Uniprot_gn	.	.	UPI000192B908	SNV	OC90,3_prime_UTR_variant,,ENST00000262283,;OC90,3_prime_UTR_variant,,ENST00000603859,;OC90,3_prime_UTR_variant,,ENST00000254627,;OC90,3_prime_UTR_variant,,ENST00000443356,;	1606	25	50	SUCCESS
PTP4A3	11156	.	GRCh37	8	142444651	142444651	+	downstream_gene_variant	3'Flank	SNP	T	T	C	rs1280407217	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	10	27	0				ENST00000329397				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6383.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTGCGGA	NONE	.	3257	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,non_coding_transcript_exon_variant,,ENST00000606664,;MROH5,splice_region_variant,,ENST00000521053,;MROH5,splice_region_variant,,ENST00000523857,;MROH5,missense_variant,p.Thr1286Ala,ENST00000430863,;	.	27	48	SUCCESS
ASPH	444	.	GRCh37	8	62415778	62415778	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	25	0	ENST00000379454.4:c.*140A>T			ENST00000379454	NM_004318.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34898.1	.	MUTECT|MUSE	.	GACCCTAGGAG	NONE	.	.	.	.	.	ENSP00000368767	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000379454	Transcript	1	.	ENSG00000198363	757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASPH_HUMAN	ASPH	HGNC	.	.	UPI0000161BFE	SNV	ASPH,3_prime_UTR_variant,,ENST00000541428,;ASPH,3_prime_UTR_variant,,ENST00000379454,;CLVS1,downstream_gene_variant,,ENST00000520712,;CLVS1,downstream_gene_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000519846,;CLVS1,downstream_gene_variant,,ENST00000325897,;CLVS1,downstream_gene_variant,,ENST00000518858,;	2605	25	17	SUCCESS
TMEM203	94107	.	GRCh37	9	140099273	140099273	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs960405164	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	13	0	ENST00000343666.5:c.*183A>T			ENST00000343666	NM_053045.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35185.1	.	RADIA|MUTECT|MUSE	.	TCTTTTAAGCC	NONE	.	.	.	.	.	ENSP00000375053	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343666	Transcript	.	.	ENSG00000187713	28217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM203_HUMAN	TMEM203	HGNC	.	.	UPI000006E3D0	SNV	TMEM203,3_prime_UTR_variant,,ENST00000343666,;TMEM203,downstream_gene_variant,,ENST00000537254,;NDOR1,upstream_gene_variant,,ENST00000427047,;NDOR1,upstream_gene_variant,,ENST00000458322,;TPRN,upstream_gene_variant,,ENST00000409012,;TPRN,upstream_gene_variant,,ENST00000321773,;NDOR1,upstream_gene_variant,,ENST00000371521,;TPRN,upstream_gene_variant,,ENST00000333046,;NDOR1,upstream_gene_variant,,ENST00000344894,;TPRN,upstream_gene_variant,,ENST00000541945,;	818	13	12	SUCCESS
TJP2	9414	.	GRCh37	9	71869448	71869448	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	10	0	ENST00000377245.4:c.*158G>A			ENST00000377245	NM_004817.3	65		0	.	.	.	.	.	A	H	protein_coding	YES	.	195	RADIA|MUTECT|MUSE	.	AGCTGGTGCAA	NONE	.	.	.	.	.	ENSP00000469112	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000600472	Transcript	.	.	ENSG00000269295	.	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	AL358113.1	Clone_based_ensembl_gene	Q59F31_HUMAN	.	UPI00004F6D90	SNV	AL358113.1,synonymous_variant,p.%3D,ENST00000600472,;TJP2,3_prime_UTR_variant,,ENST00000535702,;TJP2,3_prime_UTR_variant,,ENST00000348208,;TJP2,3_prime_UTR_variant,,ENST00000453658,;TJP2,3_prime_UTR_variant,,ENST00000539225,;TJP2,3_prime_UTR_variant,,ENST00000377245,;	195	10	10	SUCCESS
GADD45G	10912	.	GRCh37	9	92221027	92221027	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	53	174	1	ENST00000252506.6:c.*33G>T			ENST00000252506	NM_006705.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6686.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTGGTGAC	NONE	.	.	.	.	.	ENSP00000252506	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000252506	Transcript	.	.	ENSG00000130222	4097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA45G_HUMAN	GADD45G	HGNC	Q5VZ88_HUMAN,Q5VZ87_HUMAN,Q5MAI3_HUMAN	.	UPI000012AEF1	SNV	GADD45G,3_prime_UTR_variant,,ENST00000252506,;GADD45G,3_prime_UTR_variant,,ENST00000375769,;GADD45G,downstream_gene_variant,,ENST00000494726,;	622	176	137	SUCCESS
IL1RAPL2	26280	.	GRCh37	X	105011716	105011716	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	81	0	ENST00000372582.1:c.*62A>T			ENST00000372582	NM_017416.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14517.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGCATAAAG	NONE	.	.	.	.	.	ENSP00000361663	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372582	Transcript	.	.	ENSG00000189108	5997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRPL2_HUMAN	IL1RAPL2	HGNC	.	.	UPI0000073DF7	SNV	IL1RAPL2,3_prime_UTR_variant,,ENST00000372582,;IL1RAPL2,downstream_gene_variant,,ENST00000344799,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;	2879	81	127	SUCCESS
GRIA3	2892	.	GRCh37	X	122318291	122318291	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	28	0				ENST00000541091				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGGGGTGT	NONE	.	.	.	.	.	ENSP00000264357	.	1/16	.	.	.	.	.	.	.	.	.	1/16	PASS	ENST00000264357	Transcript	.	.	ENSG00000125675	4573	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIA3_HUMAN	GRIA3	HGNC	Q9UHA9_HUMAN	.	UPI000013D503	SNV	GRIA3,5_prime_UTR_variant,,ENST00000542149,;GRIA3,5_prime_UTR_variant,,ENST00000264357,;GRIA3,5_prime_UTR_variant,,ENST00000371264,;GRIA3,intron_variant,,ENST00000371266,;GRIA3,upstream_gene_variant,,ENST00000371256,;GRIA3,upstream_gene_variant,,ENST00000371251,;GRIA3,upstream_gene_variant,,ENST00000541091,;GRIA3,upstream_gene_variant,,ENST00000479118,;	196	28	58	SUCCESS
GABRE	2564	.	GRCh37	X	151122941	151122941	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	12	0	ENST00000370328.3:c.*232A>T			ENST00000370328	NM_004961.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14703.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGTGGCCC	NONE	.	.	.	.	.	ENSP00000359353	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370328	Transcript	.	.	ENSG00000102287	4085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRE_HUMAN	GABRE	HGNC	.	.	UPI00000307E6	SNV	GABRE,3_prime_UTR_variant,,ENST00000370328,;GABRE,3_prime_UTR_variant,,ENST00000370325,;GABRE,downstream_gene_variant,,ENST00000393914,;AF274855.1,downstream_gene_variant,,ENST00000582865,;MIR224,downstream_gene_variant,,ENST00000384889,;GABRE,non_coding_transcript_exon_variant,,ENST00000483564,;GABRE,downstream_gene_variant,,ENST00000462018,;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,;GABRE,downstream_gene_variant,,ENST00000495862,;GABRE,downstream_gene_variant,,ENST00000441219,;GABRE,downstream_gene_variant,,ENST00000476016,;GABRE,downstream_gene_variant,,ENST00000489333,;	1807	12	20	SUCCESS
PNMA3	29944	.	GRCh37	X	152228573	152228573	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	42	0	ENST00000424805.1:c.*1254C>T			ENST00000424805				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35435.2	.	MUTECT|MUSE	.	ACTGCCAGAGT	NONE	.	.	.	.	.	ENSP00000407642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000447306	Transcript	.	.	ENSG00000183837	18742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNMA3_HUMAN	PNMA3	HGNC	.	.	UPI00002123C6	SNV	PNMA3,3_prime_UTR_variant,,ENST00000447306,;PNMA3,3_prime_UTR_variant,,ENST00000370265,;PNMA3,downstream_gene_variant,,ENST00000370264,;PNMA3,3_prime_UTR_variant,,ENST00000424805,;	3497	42	77	SUCCESS
SPRY3	10251	.	GRCh37	X	155011079	155011079	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	201	84	190	0	ENST00000302805.2:c.*6679T>A			ENST00000302805	NM_005840.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14769.4	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTATAATAT	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	7977	190	285	SUCCESS
DHRSX	207063	.	GRCh37	X	2139046	2139046	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	85	218	2	ENST00000334651.5:c.*36A>G			ENST00000334651	NM_145177.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35195.1	.	RADIA|VARSCANS	.	CAATGTGTTTC	NONE	.	.	.	.	.	ENSP00000334113	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000334651	Transcript	.	.	ENSG00000169084	18399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHRSX_HUMAN	DHRSX	HGNC	C9JRH1_HUMAN	.	UPI0000D61D1C	SNV	DHRSX,3_prime_UTR_variant,,ENST00000334651,;	1082	220	203	SUCCESS
POF1B	79983	.	GRCh37	X	84534310	84534310	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	104	117	1	ENST00000262753.4:c.*117C>A			ENST00000262753	NM_024921.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14452.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCAGCATGG	NONE	.	.	.	.	.	ENSP00000262753	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000262753	Transcript	.	.	ENSG00000124429	13711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	POF1B_HUMAN	POF1B	HGNC	.	.	UPI0000212116	SNV	POF1B,3_prime_UTR_variant,,ENST00000262753,;POF1B,downstream_gene_variant,,ENST00000373145,;	2033	118	198	SUCCESS
RPA4	29935	.	GRCh37	X	96140268	96140268	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-CC-A7IH-01	TCGA-CC-A7IH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	155	86	89	0	ENST00000373040.3:c.*173del			ENST00000373040	NM_013347.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS35345.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGAAGCTCAG	NONE	.	.	.	.	.	ENSP00000362131	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373040	Transcript	.	.	ENSG00000204086	30305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RFA4_HUMAN	RPA4	HGNC	.	.	UPI00001337A4	deletion	RPA4,3_prime_UTR_variant,,ENST00000373040,;DIAPH2,intron_variant,,ENST00000373054,;DIAPH2,intron_variant,,ENST00000355827,;DIAPH2,intron_variant,,ENST00000324765,;DIAPH2,intron_variant,,ENST00000373049,;DIAPH2,intron_variant,,ENST00000373061,;	1362	89	241	SUCCESS
PRSS23	11098	.	GRCh37	11	86520051	86520051	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1360939598	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	49	78	0	ENST00000280258.5:c.*214C>A			ENST00000280258	NM_007173.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8278.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGCAGTTT	NONE	.	.	.	.	.	ENSP00000280258	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000280258	Transcript	.	.	ENSG00000150687	14370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS23_HUMAN	PRSS23	HGNC	E9PRR2_HUMAN,B7ZB43_HUMAN	.	UPI0000048EBC	SNV	PRSS23,3_prime_UTR_variant,,ENST00000441050,;PRSS23,3_prime_UTR_variant,,ENST00000280258,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000532234,;	1791	78	92	SUCCESS
CNTN1	1272	.	GRCh37	12	41463865	41463865	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1346422734	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	39	1	ENST00000347616.1:c.*28C>A			ENST00000347616				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8737.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCATCCCAGC	NONE	.	.	.	.	.	ENSP00000447006	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000551295	Transcript	.	.	ENSG00000018236	2171	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNTN1_HUMAN	CNTN1	HGNC	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN	.	UPI0000127EBA	SNV	CNTN1,3_prime_UTR_variant,,ENST00000551295,;CNTN1,3_prime_UTR_variant,,ENST00000347616,;CNTN1,3_prime_UTR_variant,,ENST00000348761,;CNTN1,3_prime_UTR_variant,,ENST00000548481,;	3202	40	28	SUCCESS
UNC45A	55898	.	GRCh37	15	91496950	91496950	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	89	0	ENST00000418476.2:c.*4G>T			ENST00000418476	NM_018671.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10367.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGGGTTGT	NONE	.	.	.	.	.	ENSP00000407487	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000418476	Transcript	.	.	ENSG00000140553	30594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UN45A_HUMAN	UNC45A	HGNC	.	.	UPI000000D953	SNV	UNC45A,3_prime_UTR_variant,,ENST00000418476,;UNC45A,3_prime_UTR_variant,,ENST00000394275,;RCCD1,upstream_gene_variant,,ENST00000555155,;RCCD1,upstream_gene_variant,,ENST00000394258,;RCCD1,upstream_gene_variant,,ENST00000556618,;AC068831.6,intron_variant,,ENST00000553321,;RCCD1,upstream_gene_variant,,ENST00000556774,;UNC45A,non_coding_transcript_exon_variant,,ENST00000471780,;UNC45A,non_coding_transcript_exon_variant,,ENST00000487875,;RCCD1,upstream_gene_variant,,ENST00000557266,;RCCD1,upstream_gene_variant,,ENST00000555737,;RCCD1,upstream_gene_variant,,ENST00000554302,;RCCD1,upstream_gene_variant,,ENST00000556333,;	2879	89	59	SUCCESS
ZFP3	124961	.	GRCh37	17	4999050	4999050	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	62	161	1	ENST00000318833.3:c.*2742C>A			ENST00000318833	NM_153018.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11067.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAATCCATCA	NONE	.	.	.	.	.	ENSP00000320347	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318833	Transcript	.	.	ENSG00000180787	12861	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP3_HUMAN	ZFP3	HGNC	.	.	UPI0000070244	SNV	ZFP3,3_prime_UTR_variant,,ENST00000318833,;	4587	162	92	SUCCESS
ZNF28	7576	.	GRCh37	19	53302898	53302898	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	6	67	0	ENST00000457749.2:c.*43C>G			ENST00000457749	NM_006969.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33093.2	.	MUTECT|MUSE	.	TACAAGGTTTG	NONE	.	.	.	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,3_prime_UTR_variant,,ENST00000360272,;ZNF28,3_prime_UTR_variant,,ENST00000457749,;ZNF28,3_prime_UTR_variant,,ENST00000414252,;ZNF28,3_prime_UTR_variant,,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;	2320	67	77	SUCCESS
CHD5	26038	.	GRCh37	1	6162071	6162071	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs769703032	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	40	0	ENST00000262450.3:c.*3463G>T			ENST00000262450	NM_015557.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS57.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGCCCTCC	NONE	.	.	.	.	.	ENSP00000262450	.	42/42	.	.	.	.	.	.	.	.	rs769703032	42/42	PASS	ENST00000262450	Transcript	.	.	ENSG00000116254	16816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHD5_HUMAN	CHD5	HGNC	.	.	UPI000006CD03	SNV	CHD5,3_prime_UTR_variant,,ENST00000262450,;CHD5,3_prime_UTR_variant,,ENST00000378021,;KCNAB2,downstream_gene_variant,,ENST00000378083,;KCNAB2,downstream_gene_variant,,ENST00000602612,;KCNAB2,downstream_gene_variant,,ENST00000164247,;CHD5,downstream_gene_variant,,ENST00000475121,;KCNAB2,downstream_gene_variant,,ENST00000341524,;KCNAB2,downstream_gene_variant,,ENST00000378092,;KCNAB2,downstream_gene_variant,,ENST00000378111,;KCNAB2,downstream_gene_variant,,ENST00000378097,;KCNAB2,downstream_gene_variant,,ENST00000378087,;KCNAB2,downstream_gene_variant,,ENST00000352527,;KCNAB2,downstream_gene_variant,,ENST00000458166,;CHD5,downstream_gene_variant,,ENST00000377999,;KCNAB2,downstream_gene_variant,,ENST00000481789,;CHD5,downstream_gene_variant,,ENST00000462991,;CHD5,downstream_gene_variant,,ENST00000496404,;	9428	40	32	SUCCESS
DYRK1A	1859	.	GRCh37	21	38884915	38884915	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	21	0				ENST00000398960	NM_001396.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42925.1	.	MUTECT|MUSE	.	GCTGCTTGAAT	NONE	.	26	.	.	.	ENSP00000381932	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398960	Transcript	.	.	ENSG00000157540	3091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYR1A_HUMAN	DYRK1A	HGNC	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN	.	UPI0000129A31	SNV	DYRK1A,3_prime_UTR_variant,,ENST00000339659,;DYRK1A,3_prime_UTR_variant,,ENST00000338785,;DYRK1A,downstream_gene_variant,,ENST00000455387,;DYRK1A,downstream_gene_variant,,ENST00000398956,;DYRK1A,downstream_gene_variant,,ENST00000398960,;AP001421.1,upstream_gene_variant,,ENST00000597817,;	.	21	31	SUCCESS
KRTAP10-11	386678	.	GRCh37	21	46067277	46067277	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	39	0	ENST00000334670.8:c.*5T>A			ENST00000334670	NM_198692.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42962.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGTGCTCAATC	NONE	.	.	.	.	.	ENSP00000334197	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334670	Transcript	.	.	ENSG00000243489	20528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KR10B_HUMAN	KRTAP10-11	HGNC	.	.	UPI000040FC94	SNV	KRTAP10-11,3_prime_UTR_variant,,ENST00000334670,;TSPEAR,intron_variant,,ENST00000323084,;	947	39	41	SUCCESS
TMPRSS11B	132724	.	GRCh37	4	69093571	69093571	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	88	0	ENST00000332644.5:c.*58G>A			ENST00000332644	NM_182502.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3521.1	.	MUTECT|MUSE	.	CAAAGCCACAG	NONE	.	.	.	.	.	ENSP00000330475	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000332644	Transcript	.	.	ENSG00000185873	25398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM11B_HUMAN	TMPRSS11B	HGNC	.	.	UPI000013E249	SNV	TMPRSS11B,3_prime_UTR_variant,,ENST00000332644,;TMPRSS11B,downstream_gene_variant,,ENST00000510856,;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;RP11-646E20.6,intron_variant,,ENST00000514295,;	1471	88	50	SUCCESS
PDHA2	5161	.	GRCh37	4	96762495	96762495	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7II-01	TCGA-CC-A7II-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	22	111	0	ENST00000295266.4:c.*27C>A			ENST00000295266	NM_005390.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3644.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCATCAGTCT	NONE	.	.	.	.	.	ENSP00000295266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295266	Transcript	.	.	ENSG00000163114	8807	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODPAT_HUMAN	PDHA2	HGNC	.	.	UPI0000130C31	SNV	PDHA2,3_prime_UTR_variant,,ENST00000295266,;	1257	111	87	SUCCESS
UBQLN3	50613	.	GRCh37	11	5528706	5528706	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs944570302	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	22	0	ENST00000311659.4:c.*115T>C			ENST00000311659	NM_017481.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7758.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGACTTCA	NONE	.	.	.	.	.	ENSP00000347997	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311659	Transcript	.	.	ENSG00000175520	12510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBQL3_HUMAN	UBQLN3	HGNC	C9IYQ4_HUMAN	.	UPI000006E3A0	SNV	UBQLN3,3_prime_UTR_variant,,ENST00000311659,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000396895,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	2231	22	25	SUCCESS
AHNAK	79026	.	GRCh37	11	62284196	62284196	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	34	76	1	ENST00000378024.4:c.*20A>G			ENST00000378024	NM_001620.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31584.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ATATGTACACA	NONE	.	.	.	.	.	ENSP00000367263	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000378024	Transcript	.	.	ENSG00000124942	347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AHNK_HUMAN	AHNAK	HGNC	E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	.	UPI00004EC29C	SNV	AHNAK,3_prime_UTR_variant,,ENST00000378024,;AHNAK,intron_variant,,ENST00000257247,;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,intron_variant,,ENST00000525875,;	17968	77	76	SUCCESS
DEPDC4	120863	.	GRCh37	12	100646238	100646238	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	17	0	ENST00000378244.2:c.*70A>G			ENST00000378244				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9075.1	.	RADIA|MUTECT|MUSE	.	CGTAATTCTTC	NONE	.	.	.	.	.	ENSP00000396234	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000416321	Transcript	.	.	ENSG00000166153	22952	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEPD4_HUMAN	DEPDC4	HGNC	H0YIL0_HUMAN	.	UPI0000071E6F	SNV	DEPDC4,3_prime_UTR_variant,,ENST00000548313,;DEPDC4,3_prime_UTR_variant,,ENST00000416321,;DEPDC4,downstream_gene_variant,,ENST00000550587,;DEPDC4,downstream_gene_variant,,ENST00000551642,;DEPDC4,downstream_gene_variant,,ENST00000549249,;DEPDC4,upstream_gene_variant,,ENST00000547823,;DEPDC4,upstream_gene_variant,,ENST00000549100,;DEPDC4,3_prime_UTR_variant,,ENST00000378244,;DEPDC4,downstream_gene_variant,,ENST00000299185,;DEPDC4,downstream_gene_variant,,ENST00000549341,;	958	17	11	SUCCESS
BRD7	29117	.	GRCh37	16	50353089	50353089	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	53	219	0	ENST00000394688.3:c.*33A>G			ENST00000394688				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTATGTACA	NONE	.	.	.	.	.	ENSP00000378181	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000394689	Transcript	.	.	ENSG00000166164	14310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRD7_HUMAN	BRD7	HGNC	I3L4V5_HUMAN,I3L0Y7_HUMAN	.	UPI000013E567	SNV	BRD7,3_prime_UTR_variant,,ENST00000394688,;BRD7,3_prime_UTR_variant,,ENST00000394689,;BRD7,intron_variant,,ENST00000562383,;BRD7,intron_variant,,ENST00000569774,;ADCY7,downstream_gene_variant,,ENST00000394697,;ADCY7,downstream_gene_variant,,ENST00000254235,;ADCY7,downstream_gene_variant,,ENST00000568930,;	1997	219	121	SUCCESS
THAP11	57215	.	GRCh37	16	67877505	67877505	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1030580190	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	47	72	0	ENST00000303596.1:c.*103C>T			ENST00000303596	NM_020457.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10847.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTACTGAGG	NONE	.	.	.	.	.	ENSP00000304689	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303596	Transcript	.	.	ENSG00000168286	23194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THA11_HUMAN	THAP11	HGNC	B5APZ3_HUMAN	.	UPI000013E8BD	SNV	THAP11,3_prime_UTR_variant,,ENST00000303596,;CENPT,intron_variant,,ENST00000561593,;CENPT,intron_variant,,ENST00000562787,;CENPT,intron_variant,,ENST00000565114,;NUTF2,upstream_gene_variant,,ENST00000219169,;NUTF2,upstream_gene_variant,,ENST00000568396,;NUTF2,upstream_gene_variant,,ENST00000569436,;NUTF2,upstream_gene_variant,,ENST00000567105,;CENPT,upstream_gene_variant,,ENST00000567985,;CENPT,intron_variant,,ENST00000568652,;CENPT,intron_variant,,ENST00000565132,;CENPT,intron_variant,,ENST00000568765,;CENPT,intron_variant,,ENST00000569094,;CENPT,upstream_gene_variant,,ENST00000564346,;CENPT,upstream_gene_variant,,ENST00000564144,;CENPT,upstream_gene_variant,,ENST00000567482,;CENPT,upstream_gene_variant,,ENST00000565385,;CENPT,upstream_gene_variant,,ENST00000565436,;CENPT,upstream_gene_variant,,ENST00000569019,;NUTF2,upstream_gene_variant,,ENST00000568390,;NUTF2,upstream_gene_variant,,ENST00000570026,;NUTF2,upstream_gene_variant,,ENST00000568233,;	1293	72	78	SUCCESS
CEBPG	1054	.	GRCh37	19	33870740	33870740	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	18	98	0	ENST00000284000.4:c.*142A>G			ENST00000284000	NM_001806.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12432.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTGAAGAGT	NONE	.	.	.	.	.	ENSP00000284000	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000284000	Transcript	.	.	ENSG00000153879	1837	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEBPG_HUMAN	CEBPG	HGNC	K7ELC9_HUMAN	.	UPI00001274A6	SNV	CEBPG,3_prime_UTR_variant,,ENST00000585933,;CEBPG,3_prime_UTR_variant,,ENST00000284000,;	1257	98	93	SUCCESS
CYP2A7	1549	.	GRCh37	19	41381349	41381349	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	9	0	ENST00000301146.4:c.*249T>C			ENST00000301146	NM_000764.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12569.1	.	MUTECT|MUSE	.	TCAGGAAATAA	NONE	.	.	.	.	.	ENSP00000301146	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000301146	Transcript	.	.	ENSG00000198077	2611	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP2A7_HUMAN	CYP2A7	HGNC	.	.	UPI000013E6D5	SNV	CYP2A7,3_prime_UTR_variant,,ENST00000291764,;CYP2A7,3_prime_UTR_variant,,ENST00000301146,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,downstream_gene_variant,,ENST00000598264,;CYP2A7,downstream_gene_variant,,ENST00000602008,;CYP2A7,downstream_gene_variant,,ENST00000594332,;	2276	9	16	SUCCESS
SELM	0	.	GRCh37	22	31500855	31500855	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	17	0	ENST00000400299.2:c.*101C>G			ENST00000400299	NM_080430.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43003.1	.	MUTECT|MUSE	.	GACGGGCATCG	NONE	.	.	.	.	.	ENSP00000384564	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000402395	Transcript	.	.	ENSG00000198832	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SELM_HUMAN	SELM	Uniprot_gn	.	.	UPI000016788A	SNV	SELM,3_prime_UTR_variant,,ENST00000400299,;SELM,3_prime_UTR_variant,,ENST00000402395,;SMTN,downstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000333137,;SMTN,downstream_gene_variant,,ENST00000358743,;SMTN,downstream_gene_variant,,ENST00000347557,;SELM,downstream_gene_variant,,ENST00000491958,;SELM,downstream_gene_variant,,ENST00000460642,;SELM,downstream_gene_variant,,ENST00000465536,;SELM,non_coding_transcript_exon_variant,,ENST00000490967,;SELM,downstream_gene_variant,,ENST00000465447,;SELM,downstream_gene_variant,,ENST00000495533,;SMTN,downstream_gene_variant,,ENST00000472911,;SMTN,downstream_gene_variant,,ENST00000489337,;SMTN,downstream_gene_variant,,ENST00000460658,;SELM,downstream_gene_variant,,ENST00000469262,;SMTN,downstream_gene_variant,,ENST00000493335,;SMTN,downstream_gene_variant,,ENST00000504335,;	957	17	35	SUCCESS
ACKR3	57007	.	GRCh37	2	237490297	237490297	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	58	0	ENST00000272928.3:c.*100T>C			ENST00000272928	NM_020311.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2516.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGATGCTTG	NONE	.	.	.	.	.	ENSP00000272928	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000272928	Transcript	.	.	ENSG00000144476	23692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACKR3_HUMAN	ACKR3	HGNC	.	.	UPI000013D989	SNV	ACKR3,3_prime_UTR_variant,,ENST00000272928,;ACKR3,downstream_gene_variant,,ENST00000447924,;	1499	58	53	SUCCESS
SOX11	6664	.	GRCh37	2	5841308	5841308	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	34	94	0	ENST00000322002.3:c.*7135del			ENST00000322002	NM_003108.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1654.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATGTATTTTTT	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	deletion	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	8510	94	115	SUCCESS
NPY2R	4887	.	GRCh37	4	156136300	156136300	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs553777923	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	13	0	ENST00000329476.3:c.*63C>T			ENST00000329476	NM_000910.2			0	.	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS3791.1	.	MUTECT|MUSE	.	GATGGCGGCTC	NONE	by1000G	.	.	A:0	.	ENSP00000332591	A:0	2/2	.	.	.	.	.	.	.	.	rs553777923	2/2	PASS	ENST00000329476	Transcript	.	A:0.0002	ENSG00000185149	7957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,3_prime_UTR_variant,,ENST00000506608,;NPY2R,3_prime_UTR_variant,,ENST00000329476,;	1698	13	14	SUCCESS
PRRC2A	7916	.	GRCh37	6	31608213	31608213	+	downstream_gene_variant	3'Flank	SNP	T	T	C	rs1195220483	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	79	0				ENST00000376007	NM_080686.2	999		0	.	.	.	.	.	C	E	protein_coding	YES	CCDS47403.1	2997	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGTTCATC	NONE	.	.	hmmpanther:PTHR15204	.	.	ENSP00000365131	.	22/25	.	.	.	.	.	.	.	.	.	22/25	PASS	ENST00000375964	Transcript	.	.	ENSG00000204463	13919	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAG6_HUMAN	BAG6	HGNC	F6TC96_HUMAN,F6RG75_HUMAN	.	UPI000047029D	SNV	BAG6,synonymous_variant,p.%3D,ENST00000375976,;BAG6,synonymous_variant,p.%3D,ENST00000362049,;BAG6,synonymous_variant,p.%3D,ENST00000375964,;BAG6,synonymous_variant,p.%3D,ENST00000211379,;BAG6,synonymous_variant,p.%3D,ENST00000441793,;BAG6,synonymous_variant,p.%3D,ENST00000404765,;BAG6,intron_variant,,ENST00000422948,;BAG6,intron_variant,,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000435080,;BAG6,downstream_gene_variant,,ENST00000437771,;PRRC2A,downstream_gene_variant,,ENST00000376033,;BAG6,downstream_gene_variant,,ENST00000453833,;PRRC2A,downstream_gene_variant,,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,non_coding_transcript_exon_variant,,ENST00000464126,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,downstream_gene_variant,,ENST00000470875,;BAG6,downstream_gene_variant,,ENST00000465348,;BAG6,downstream_gene_variant,,ENST00000462682,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;PRRC2A,downstream_gene_variant,,ENST00000487089,;PRRC2A,downstream_gene_variant,,ENST00000469501,;PRRC2A,downstream_gene_variant,,ENST00000492691,;BAG6,downstream_gene_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000487839,;	3311	79	63	SUCCESS
CHRM2	1129	.	GRCh37	7	136701545	136701545	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	27	83	0				ENST00000320658	NM_001006632.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5843.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACGGTCCTA	NONE	.	.	.	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,3_prime_UTR_variant,,ENST00000401861,;CHRM2,3_prime_UTR_variant,,ENST00000397608,;CHRM2,3_prime_UTR_variant,,ENST00000402486,;CHRM2,3_prime_UTR_variant,,ENST00000445907,;CHRM2,downstream_gene_variant,,ENST00000320658,;CHRM2,downstream_gene_variant,,ENST00000453373,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	2461	83	61	SUCCESS
GPR82	27197	.	GRCh37	X	41588013	41588015	+	3_prime_UTR_variant	3'UTR	DEL	ATA	ATA	T	novel	.	TCGA-CC-A7IJ-01	TCGA-CC-A7IJ-10	ATA	ATA	.	.	.	.	.	.	.	.	.	.	.	.	.	136	39	210	0	ENST00000302548.4:c.*723_*725delinsT			ENST00000302548	NM_080817.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14259.1	.	VARSCANI*|PINDEL	.	AAAAAAATAAAAAT	NONE	.	.	.	.	.	ENSP00000303549	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302548	Transcript	.	.	ENSG00000171657	4533	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR82_HUMAN	GPR82	HGNC	.	.	UPI000003BCD1	substitution	GPR82,3_prime_UTR_variant,,ENST00000302548,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;GPR82,non_coding_transcript_exon_variant,,ENST00000497180,;	1974-1976	210	175	SUCCESS
MMP21	118856	.	GRCh37	10	127455187	127455187	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1564761579	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	60	0	ENST00000368808.3:c.*44T>C			ENST00000368808	NM_147191.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7647.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAATTTTA	NONE	.	.	.	.	.	ENSP00000357798	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368808	Transcript	.	.	ENSG00000154485	14357	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP21_HUMAN	MMP21	HGNC	.	.	UPI000006FDF6	SNV	MMP21,3_prime_UTR_variant,,ENST00000368808,;EDRF1,downstream_gene_variant,,ENST00000356792,;EDRF1,downstream_gene_variant,,ENST00000337623,;EDRF1,downstream_gene_variant,,ENST00000368815,;EDRF1,downstream_gene_variant,,ENST00000527655,;EDRF1,downstream_gene_variant,,ENST00000481600,;EDRF1,downstream_gene_variant,,ENST00000419769,;EDRF1,downstream_gene_variant,,ENST00000368812,;EDRF1,downstream_gene_variant,,ENST00000525358,;	1754	60	49	SUCCESS
WDFY4	57705	.	GRCh37	10	50190696	50190696	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	92	0	ENST00000325239.5:c.*76T>G			ENST00000325239	NM_020945.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44385.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTGCCTA	NONE	.	.	.	.	.	ENSP00000320563	.	61/61	.	.	.	.	.	.	.	.	.	61/61	PASS	ENST00000325239	Transcript	.	.	ENSG00000128815	29323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDFY4_HUMAN	WDFY4	HGNC	Q6PIM1_HUMAN	.	UPI000176ADB8	SNV	WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,3_prime_UTR_variant,,ENST00000325239,;WDFY4,3_prime_UTR_variant,,ENST00000265453,;MIR4294,downstream_gene_variant,,ENST00000584548,;RP11-523O18.5,intron_variant,,ENST00000428825,;RP11-523O18.1,upstream_gene_variant,,ENST00000422966,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;WDFY4,intron_variant,,ENST00000490507,;	9658	92	60	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123493322	123493322	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	33	0	ENST00000529750.1:c.*19G>C			ENST00000529750	NM_020716.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53720.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGCTGCA	NONE	.	.	.	.	.	ENSP00000436500	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,3_prime_UTR_variant,,ENST00000322282,;GRAMD1B,3_prime_UTR_variant,,ENST00000456860,;GRAMD1B,3_prime_UTR_variant,,ENST00000450171,;GRAMD1B,3_prime_UTR_variant,,ENST00000529432,;GRAMD1B,3_prime_UTR_variant,,ENST00000529750,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000525945,;GRAMD1B,downstream_gene_variant,,ENST00000532581,;	2563	33	16	SUCCESS
RAG1	5896	.	GRCh37	11	36600228	36600228	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	23	89	0	ENST00000299440.5:c.*2242C>A			ENST00000299440	NM_000448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7902.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATCACATT	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	5486	89	49	SUCCESS
OR51E1	143503	.	GRCh37	11	4675335	4675335	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	34	0	ENST00000396952.5:c.*622T>A			ENST00000396952	NM_152430.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31358.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTTTCTTAT	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	2229	34	34	SUCCESS
KRTAP5-11	440051	.	GRCh37	11	71293298	71293298	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs897225822	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	35	0	ENST00000398530.1:c.*115A>G			ENST00000398530	NM_001005405.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41685.1	.	MUTECT|MUSE	.	GATGATGAGCT	NONE	.	.	.	.	.	ENSP00000381541	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000398530	Transcript	.	.	ENSG00000204571	23606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR511_HUMAN	KRTAP5-11	HGNC	.	.	UPI0000376063	SNV	KRTAP5-11,3_prime_UTR_variant,,ENST00000398530,;AP000867.1,intron_variant,,ENST00000343767,;KRTAP5-11,intron_variant,,ENST00000526239,;KRTAP5-14P,upstream_gene_variant,,ENST00000502328,;	624	35	13	SUCCESS
KCNK13	56659	.	GRCh37	14	90651420	90651420	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	10	0	ENST00000282146.4:c.*73C>A			ENST00000282146	NM_022054.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9889.1	.	MUTECT|MUSE	.	CTCAGCCCTGC	NONE	.	.	.	.	.	ENSP00000282146	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282146	Transcript	.	.	ENSG00000152315	6275	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNKD_HUMAN	KCNK13	HGNC	B5TJL8_HUMAN	.	UPI0000127A55	SNV	KCNK13,3_prime_UTR_variant,,ENST00000282146,;	1741	10	8	SUCCESS
AC004381.6	0	.	GRCh37	16	20860914	20860914	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	16	0	ENST00000261377.6:c.*112A>G			ENST00000261377	NM_030941.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10591.1	.	MUTECT|MUSE	.	TTGGTATAGCA	NONE	.	.	.	.	.	ENSP00000261377	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000261377	Transcript	.	.	ENSG00000005189	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REXON_HUMAN	AC004381.6	Clone_based_vega_gene	H3BV93_HUMAN,H3BUT7_HUMAN,H3BSE4_HUMAN,H3BSC5_HUMAN,H3BR13_HUMAN,H3BQ98_HUMAN,H3BPB2_HUMAN,H3BM72_HUMAN	.	UPI0000073454	SNV	AC004381.6,3_prime_UTR_variant,,ENST00000261377,;AC004381.6,3_prime_UTR_variant,,ENST00000348433,;ERI2,intron_variant,,ENST00000564349,;AC004381.6,downstream_gene_variant,,ENST00000564274,;AC004381.6,downstream_gene_variant,,ENST00000561474,;AC004381.6,3_prime_UTR_variant,,ENST00000566993,;AC004381.6,downstream_gene_variant,,ENST00000568334,;	2646	16	26	SUCCESS
CCDC113	29070	.	GRCh37	16	58313726	58313726	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs763034728	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	23	28	0	ENST00000219299.4:c.*45A>G			ENST00000219299	NM_014157.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10795.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAAAGTAAT	NONE	byFrequency	.	.	.	.	ENSP00000219299	.	9/9	.	.	.	.	.	.	.	.	rs763034728	9/9	PASS	ENST00000219299	Transcript	.	.	ENSG00000103021	25002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC113_HUMAN	CCDC113	HGNC	H3BQS9_HUMAN	.	UPI000007254E	SNV	CCDC113,3_prime_UTR_variant,,ENST00000219299,;CCDC113,3_prime_UTR_variant,,ENST00000443128,;PRSS54,downstream_gene_variant,,ENST00000569727,;PRSS54,downstream_gene_variant,,ENST00000219301,;PRSS54,downstream_gene_variant,,ENST00000569079,;PRSS54,downstream_gene_variant,,ENST00000543437,;PRSS54,downstream_gene_variant,,ENST00000567164,;PRSS54,downstream_gene_variant,,ENST00000563336,;AC009107.1,upstream_gene_variant,,ENST00000366168,;	1258	28	29	SUCCESS
LGALS9B	284194	.	GRCh37	17	20353174	20353174	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	39	165	0	ENST00000423676.3:c.*112A>C			ENST00000423676				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42283.1	.	MUTECT|MUSE	.	TGCATTAAAGC	NONE	.	2	.	.	.	ENSP00000315564	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324290	Transcript	.	.	ENSG00000170298	24842	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LEG9B_HUMAN	LGALS9B	HGNC	.	.	UPI00001AF401	SNV	LGALS9B,3_prime_UTR_variant,,ENST00000423676,;LGALS9B,downstream_gene_variant,,ENST00000324290,;NOS2P3,downstream_gene_variant,,ENST00000458685,;LGALS9B,downstream_gene_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000578481,;LGALS9B,downstream_gene_variant,,ENST00000581490,;NOS2P3,downstream_gene_variant,,ENST00000411468,;	.	165	141	SUCCESS
LGALS9	3965	.	GRCh37	17	25976090	25976090	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs191142299	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	53	186	1	ENST00000395473.2:c.*82C>A			ENST00000395473	NM_009587.2			0	.	G:0.0015	.	G:0	.	A	.	protein_coding	YES	CCDS11222.1	.	MUTECT|MUSE|VARSCANS	.	CCAGCCTTTCC	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000378856	G:0	11/11	.	.	.	.	.	.	.	.	rs191142299	11/11	PASS	ENST00000395473	Transcript	.	G:0.0004	ENSG00000168961	6570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	LEG9_HUMAN	LGALS9	HGNC	K7EPS0_HUMAN	.	UPI000012E437	SNV	LGALS9,3_prime_UTR_variant,,ENST00000413914,;LGALS9,3_prime_UTR_variant,,ENST00000395473,;LGALS9,3_prime_UTR_variant,,ENST00000581710,;LGALS9,3_prime_UTR_variant,,ENST00000302228,;LGALS9,3_prime_UTR_variant,,ENST00000310394,;LGALS9,3_prime_UTR_variant,,ENST00000313648,;LGALS9,downstream_gene_variant,,ENST00000577392,;LGALS9,downstream_gene_variant,,ENST00000578944,;LGALS9,downstream_gene_variant,,ENST00000584661,;LGALS9,3_prime_UTR_variant,,ENST00000467111,;LGALS9,non_coding_transcript_exon_variant,,ENST00000486774,;LGALS9,non_coding_transcript_exon_variant,,ENST00000481514,;LGALS9,downstream_gene_variant,,ENST00000584386,;LGALS9,downstream_gene_variant,,ENST00000580779,;NOS2P1,downstream_gene_variant,,ENST00000580780,;	2618	187	206	SUCCESS
MMP28	79148	.	GRCh37	17	34105697	34105697	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	13	0	ENST00000250144.8:c.*181T>A			ENST00000250144	NM_001032278.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45651.1	.	RADIA|MUTECT|MUSE	.	AATGTAGGTGT	NONE	.	.	.	.	.	ENSP00000250144	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000250144	Transcript	.	.	ENSG00000129270	14366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MMP28_HUMAN	MMP28	HGNC	.	.	UPI0000071063	SNV	MMP28,3_prime_UTR_variant,,ENST00000593125,;MMP28,3_prime_UTR_variant,,ENST00000250144,;MMP28,intron_variant,,ENST00000587639,;MMP28,intron_variant,,ENST00000587923,;MMP28,intron_variant,,ENST00000590643,;MMP28,intron_variant,,ENST00000589061,;MMP28,intron_variant,,ENST00000589103,;	904	13	10	SUCCESS
HEXIM1	10614	.	GRCh37	17	43228157	43228157	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	129	80	211	0	ENST00000332499.2:c.*520A>G			ENST00000332499	NM_006460.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11495.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAATTTG	NONE	.	.	.	.	.	ENSP00000328773	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332499	Transcript	.	.	ENSG00000186834	24953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXI1_HUMAN	HEXIM1	HGNC	.	.	UPI000006E405	SNV	HEXIM1,3_prime_UTR_variant,,ENST00000332499,;AC002117.1,non_coding_transcript_exon_variant,,ENST00000589950,;AC002117.1,non_coding_transcript_exon_variant,,ENST00000452741,;	3474	211	209	SUCCESS
PNPO	55163	.	GRCh37	17	46024250	46024250	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	20	0	ENST00000225573.4:c.*102C>T			ENST00000225573	NM_018129.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11522.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTCCCTAC	NONE	.	.	.	.	.	ENSP00000225573	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000225573	Transcript	.	.	ENSG00000108439	30260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNPO_HUMAN	PNPO	HGNC	J3QQZ9_HUMAN,J3QQV6_HUMAN,B4E0V0_HUMAN	.	UPI000004A13F	SNV	PNPO,3_prime_UTR_variant,,ENST00000434554,;PNPO,3_prime_UTR_variant,,ENST00000225573,;PNPO,3_prime_UTR_variant,,ENST00000544840,;PNPO,3_prime_UTR_variant,,ENST00000534893,;PNPO,downstream_gene_variant,,ENST00000583599,;RP11-6N17.6,intron_variant,,ENST00000580372,;RP11-6N17.6,downstream_gene_variant,,ENST00000582142,;RP11-6N17.9,intron_variant,,ENST00000582262,;PNPO,3_prime_UTR_variant,,ENST00000582171,;PNPO,downstream_gene_variant,,ENST00000584806,;PNPO,downstream_gene_variant,,ENST00000585320,;PNPO,downstream_gene_variant,,ENST00000583245,;PNPO,downstream_gene_variant,,ENST00000584061,;	993	20	19	SUCCESS
SSTR2	6752	.	GRCh37	17	71166872	71166872	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	55	0	ENST00000357585.2:c.*304T>A			ENST00000357585	NM_001050.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11691.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGTATCTG	NONE	.	.	.	.	.	ENSP00000350198	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357585	Transcript	.	.	ENSG00000180616	11331	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSR2_HUMAN	SSTR2	HGNC	.	.	UPI0000000808	SNV	SSTR2,3_prime_UTR_variant,,ENST00000357585,;SSTR2,downstream_gene_variant,,ENST00000315332,;RP11-143K11.1,upstream_gene_variant,,ENST00000569655,;RP11-143K11.5,intron_variant,,ENST00000580671,;SSTR2,downstream_gene_variant,,ENST00000579323,;	1783	55	54	SUCCESS
EPN1	29924	.	GRCh37	19	56206724	56206724	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	30	0	ENST00000270460.6:c.*2C>G			ENST00000270460	NM_001130072.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46198.1	.	MUTECT|MUSE	.	ATAATCCAGGG	NONE	.	.	.	.	.	ENSP00000406209	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000411543	Transcript	.	.	ENSG00000063245	21604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPN1_HUMAN	EPN1	HGNC	.	.	UPI000059D7B7	SNV	EPN1,3_prime_UTR_variant,,ENST00000411543,;EPN1,3_prime_UTR_variant,,ENST00000270460,;EPN1,3_prime_UTR_variant,,ENST00000085079,;EPN1,intron_variant,,ENST00000589704,;AC010525.7,upstream_gene_variant,,ENST00000589698,;AC010525.6,upstream_gene_variant,,ENST00000587937,;AC010525.4,upstream_gene_variant,,ENST00000585559,;EPN1,downstream_gene_variant,,ENST00000586194,;AC010525.1,upstream_gene_variant,,ENST00000366135,;	2538	30	28	SUCCESS
IGFN1	91156	.	GRCh37	1	201196213	201196213	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	.	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	141	65	155	0	ENST00000295591.8:c.*447G>T			ENST00000295591		3664		0	.	.	.	.	.	T	D/Y	protein_coding	YES	CCDS53455.1	10990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACTGACCTG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145,PROSITE_profiles:PS50835	.	.	ENSP00000334714	.	23/24	.	.	.	.	.	.	.	.	COSM3803441,COSM3803440	23/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1,1	.	.	probably_damaging(0.999)	.	.	1,1	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,missense_variant,p.Asp1082Tyr,ENST00000412892,;IGFN1,missense_variant,p.Asp3664Tyr,ENST00000335211,;IGFN1,3_prime_UTR_variant,,ENST00000295591,;RP11-567E21.3,upstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	11120	155	206	SUCCESS
CR1	1378	.	GRCh37	1	207812830	207812830	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	34	0	ENST00000367051.1:c.*76A>G			ENST00000367051				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44308.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCAGATCT	NONE	.	76	.	.	.	ENSP00000356016	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,3_prime_UTR_variant,,ENST00000367051,;CR1,3_prime_UTR_variant,,ENST00000367052,;CR1,3_prime_UTR_variant,,ENST00000400960,;CR1,3_prime_UTR_variant,,ENST00000367053,;CR1,downstream_gene_variant,,ENST00000367049,;	.	34	39	SUCCESS
MEGF6	1953	.	GRCh37	1	3406923	3406923	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1315350575	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	9	0	ENST00000356575.4:c.*169T>A			ENST00000356575	NM_001409.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41237.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACCAGCCTC	NONE	.	.	.	.	.	ENSP00000348982	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000356575	Transcript	.	.	ENSG00000162591	3232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,3_prime_UTR_variant,,ENST00000356575,;MEGF6,3_prime_UTR_variant,,ENST00000294599,;MEGF6,downstream_gene_variant,,ENST00000491842,;RP11-168F9.2,downstream_gene_variant,,ENST00000606489,;MEGF6,non_coding_transcript_exon_variant,,ENST00000494257,;MEGF6,downstream_gene_variant,,ENST00000475790,;MEGF6,downstream_gene_variant,,ENST00000485002,;MEGF6,downstream_gene_variant,,ENST00000461795,;	5022	9	19	SUCCESS
MAP7D1	55700	.	GRCh37	1	36645935	36645935	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	46	0	ENST00000373151.2:c.*76A>G			ENST00000373151	NM_018067.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30673.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAAGACAG	NONE	.	.	.	.	.	ENSP00000362244	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000373151	Transcript	.	.	ENSG00000116871	25514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MA7D1_HUMAN	MAP7D1	HGNC	E9PLH3_HUMAN,D3DPS3_HUMAN,C9JIR3_HUMAN	.	UPI00005C3036	SNV	MAP7D1,3_prime_UTR_variant,,ENST00000373148,;MAP7D1,3_prime_UTR_variant,,ENST00000373151,;MAP7D1,3_prime_UTR_variant,,ENST00000373150,;MAP7D1,3_prime_UTR_variant,,ENST00000316156,;MAP7D1,downstream_gene_variant,,ENST00000530975,;MAP7D1,downstream_gene_variant,,ENST00000474796,;MAP7D1,downstream_gene_variant,,ENST00000487131,;MAP7D1,downstream_gene_variant,,ENST00000532131,;MAP7D1,downstream_gene_variant,,ENST00000487114,;	2818	46	67	SUCCESS
CDCA8	55143	.	GRCh37	1	38174246	38174246	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	13	0	ENST00000327331.2:c.*208T>C			ENST00000327331				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS424.1	.	MUTECT|MUSE	.	GTCACTGCTTG	NONE	.	.	.	.	.	ENSP00000362146	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000373055	Transcript	.	.	ENSG00000134690	14629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BOREA_HUMAN	CDCA8	HGNC	.	.	UPI000007033D	SNV	CDCA8,3_prime_UTR_variant,,ENST00000327331,;CDCA8,3_prime_UTR_variant,,ENST00000373055,;	1324	13	9	SUCCESS
LEPRE1	0	.	GRCh37	1	43232755	43232755	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs1425800042	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	11	17	0				ENST00000296388				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS57986.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCATGCCCA	NONE	.	72	.	.	.	ENSP00000236040	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000236040	Transcript	.	.	ENSG00000117385	19316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P3H1_HUMAN	LEPRE1	HGNC	B4DTG8_HUMAN	.	UPI000013E32E	SNV	LEPRE1,5_prime_UTR_variant,,ENST00000397054,;C1orf50,upstream_gene_variant,,ENST00000536543,;LEPRE1,upstream_gene_variant,,ENST00000372526,;LEPRE1,upstream_gene_variant,,ENST00000236040,;C1orf50,upstream_gene_variant,,ENST00000372525,;LEPRE1,upstream_gene_variant,,ENST00000296388,;C1orf50,upstream_gene_variant,,ENST00000468913,;LEPRE1,upstream_gene_variant,,ENST00000495874,;C1orf50,upstream_gene_variant,,ENST00000603943,;LEPRE1,upstream_gene_variant,,ENST00000460031,;LEPRE1,upstream_gene_variant,,ENST00000492956,;C1orf50,upstream_gene_variant,,ENST00000464081,;LEPRE1,upstream_gene_variant,,ENST00000463465,;	.	17	18	SUCCESS
DEFB127	140850	.	GRCh37	20	139797	139797	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	39	0	ENST00000382388.3:c.*132T>A			ENST00000382388	NM_139074.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12991.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCATTGCCAG	NONE	.	.	.	.	.	ENSP00000371825	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382388	Transcript	.	.	ENSG00000088782	16206	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DB127_HUMAN	DEFB127	HGNC	.	.	UPI000004BA6D	SNV	DEFB127,3_prime_UTR_variant,,ENST00000382388,;	507	39	29	SUCCESS
NKAIN4	128414	.	GRCh37	20	61872621	61872621	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	16	0	ENST00000370316.3:c.*228A>G			ENST00000370316	NM_152864.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13514.1	.	RADIA|MUTECT|MUSE	.	CTTTTTTTTTT	NONE	.	.	.	.	.	ENSP00000359340	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370316	Transcript	.	.	ENSG00000101198	16191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NKAI4_HUMAN	NKAIN4	HGNC	A6NNM2_HUMAN	.	UPI000013C71B	SNV	NKAIN4,3_prime_UTR_variant,,ENST00000370313,;NKAIN4,3_prime_UTR_variant,,ENST00000370316,;NKAIN4,downstream_gene_variant,,ENST00000370307,;NKAIN4,downstream_gene_variant,,ENST00000370317,;BIRC7,downstream_gene_variant,,ENST00000395306,;BIRC7,downstream_gene_variant,,ENST00000217169,;BIRC7,downstream_gene_variant,,ENST00000342412,;MIR3196,downstream_gene_variant,,ENST00000579556,;NKAIN4,non_coding_transcript_exon_variant,,ENST00000466885,;NKAIN4,downstream_gene_variant,,ENST00000470246,;NKAIN4,downstream_gene_variant,,ENST00000461738,;NKAIN4,downstream_gene_variant,,ENST00000486495,;	945	16	13	SUCCESS
PCMTD2	55251	.	GRCh37	20	62904996	62904996	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	34	0	ENST00000308824.6:c.*43A>T			ENST00000308824	NM_018257.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13559.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGAGTGTG	NONE	.	.	.	.	.	ENSP00000307854	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000308824	Transcript	.	.	ENSG00000203880	15882	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCMD2_HUMAN	PCMTD2	HGNC	.	.	UPI0000049C88	SNV	PCMTD2,3_prime_UTR_variant,,ENST00000308824,;PCMTD2,3_prime_UTR_variant,,ENST00000609372,;PCMTD2,3_prime_UTR_variant,,ENST00000369758,;PCMTD2,intron_variant,,ENST00000299468,;PCMTD2,downstream_gene_variant,,ENST00000609818,;PCMTD2,non_coding_transcript_exon_variant,,ENST00000266078,;	1256	34	27	SUCCESS
GPR39	2863	.	GRCh37	2	133403400	133403400	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1208897696	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	11	12	0	ENST00000329321.3:c.*221C>T			ENST00000329321	NM_001508.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42759.1	.	RADIA|MUTECT|MUSE	.	CACCTCCTTCC	NONE	.	.	.	.	.	ENSP00000380605	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397463	Transcript	.	.	ENSG00000150551	28431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LYPD1_HUMAN	LYPD1	HGNC	Q53T92_HUMAN,Q53RU6_HUMAN	.	UPI00000477F5	SNV	LYPD1,3_prime_UTR_variant,,ENST00000345008,;LYPD1,3_prime_UTR_variant,,ENST00000397463,;GPR39,3_prime_UTR_variant,,ENST00000329321,;GPR39,non_coding_transcript_exon_variant,,ENST00000470071,;	917	12	13	SUCCESS
SOX11	6664	.	GRCh37	2	5839722	5839722	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	14	69	0	ENST00000322002.3:c.*5543A>C			ENST00000322002	NM_003108.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCAGGATT	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	6924	69	58	SUCCESS
IAH1	285148	.	GRCh37	2	9628570	9628570	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	14	0	ENST00000497473.1:c.*112A>G			ENST00000497473	NM_001039613.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42651.1	.	MUTECT|MUSE	.	ATAATAAAAGT	NONE	.	.	.	.	.	ENSP00000417580	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000497473	Transcript	.	.	ENSG00000134330	27696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IAH1_HUMAN	IAH1	HGNC	C9JDY4_HUMAN,C9J5J2_HUMAN,B4DMV3_HUMAN	.	UPI00000382E7	SNV	IAH1,3_prime_UTR_variant,,ENST00000470914,;IAH1,3_prime_UTR_variant,,ENST00000497473,;IAH1,3_prime_UTR_variant,,ENST00000482918,;IAH1,intron_variant,,ENST00000481367,;IAH1,intron_variant,,ENST00000545602,;IAH1,downstream_gene_variant,,ENST00000496603,;IAH1,downstream_gene_variant,,ENST00000481688,;IAH1,downstream_gene_variant,,ENST00000495797,;ADAM17,downstream_gene_variant,,ENST00000310823,;IAH1,non_coding_transcript_exon_variant,,ENST00000487850,;IAH1,intron_variant,,ENST00000490621,;IAH1,downstream_gene_variant,,ENST00000495494,;IAH1,downstream_gene_variant,,ENST00000489468,;IAH1,3_prime_UTR_variant,,ENST00000351760,;IAH1,3_prime_UTR_variant,,ENST00000492223,;IAH1,non_coding_transcript_exon_variant,,ENST00000484826,;IAH1,downstream_gene_variant,,ENST00000495050,;	896	14	16	SUCCESS
PROK2	60675	.	GRCh37	3	71821732	71821732	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	44	0	ENST00000295619.3:c.*143T>C			ENST00000295619	NM_001126128.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46868.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTACAAAT	NONE	.	.	.	.	.	ENSP00000295619	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000295619	Transcript	.	.	ENSG00000163421	18455	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PROK2_HUMAN	PROK2	HGNC	.	.	UPI0000132219	SNV	PROK2,3_prime_UTR_variant,,ENST00000295619,;PROK2,3_prime_UTR_variant,,ENST00000353065,;	542	44	48	SUCCESS
HPGD	3248	.	GRCh37	4	175413048	175413048	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs376494010	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	34	0	ENST00000296522.6:c.*59A>G			ENST00000296522	NM_001256307.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3821.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAAGATAGGAT	NONE	byCluster	.	.	.	.	ENSP00000296522	.	7/7	.	.	.	.	.	.	.	.	rs376494010	7/7	PASS	ENST00000296522	Transcript	1	.	ENSG00000164120	5154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PGDH_HUMAN	HPGD	HGNC	Q9NZQ5_HUMAN,D6RA83_HUMAN,D6RA66_HUMAN	.	UPI000000105B	SNV	HPGD,3_prime_UTR_variant,,ENST00000296522,;HPGD,3_prime_UTR_variant,,ENST00000510901,;HPGD,3_prime_UTR_variant,,ENST00000296521,;HPGD,3_prime_UTR_variant,,ENST00000422112,;HPGD,3_prime_UTR_variant,,ENST00000541923,;HPGD,downstream_gene_variant,,ENST00000506910,;HPGD,downstream_gene_variant,,ENST00000514584,;HPGD,downstream_gene_variant,,ENST00000542498,;HPGD,3_prime_UTR_variant,,ENST00000510835,;HPGD,3_prime_UTR_variant,,ENST00000508330,;HPGD,non_coding_transcript_exon_variant,,ENST00000509512,;HPGD,non_coding_transcript_exon_variant,,ENST00000511499,;HPGD,downstream_gene_variant,,ENST00000512410,;	1307	34	18	SUCCESS
HRH2	3274	.	GRCh37	5	175112731	175112731	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	14	0				ENST00000231683	NM_022304.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47344.1	.	RADIA|MUTECT|MUSE	.	AGAGTTGCCTG	NONE	.	.	.	.	.	ENSP00000366506	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377291	Transcript	.	.	ENSG00000113749	5183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HRH2_HUMAN	HRH2	HGNC	.	.	UPI00001B2326	SNV	HRH2,3_prime_UTR_variant,,ENST00000377291,;HRH2,downstream_gene_variant,,ENST00000231683,;	2047	14	11	SUCCESS
NPR3	4883	.	GRCh37	5	32791479	32791479	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	22	75	0	ENST00000265074.8:c.*5028A>G			ENST00000265074	NM_001204375.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56357.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGGACTACC	NONE	.	.	.	.	.	ENSP00000265074	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,3_prime_UTR_variant,,ENST00000265074,;AC026703.1,3_prime_UTR_variant,,ENST00000326958,;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415167,;NPR3,downstream_gene_variant,,ENST00000415685,;	6997	75	59	SUCCESS
ACTBL2	345651	.	GRCh37	5	56777344	56777344	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	45	0	ENST00000423391.1:c.*60T>C			ENST00000423391	NM_001017992.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34163.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCAGTACC	NONE	.	.	.	.	.	ENSP00000416706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000423391	Transcript	.	.	ENSG00000169067	17780	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACTBL_HUMAN	ACTBL2	HGNC	.	.	UPI000013EB83	SNV	ACTBL2,3_prime_UTR_variant,,ENST00000423391,;AC025470.1,downstream_gene_variant,,ENST00000584598,;CTD-2023N9.1,intron_variant,,ENST00000506106,;	1293	45	31	SUCCESS
HIST1H1B	0	.	GRCh37	6	27839739	27839739	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	37	108	0				ENST00000331442	NM_005322.2	119		0	.	.	.	.	.	G	T/P	protein_coding	YES	CCDS4636.1	355	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAGTGACGC	NONE	.	.	Prints_domain:PR00622,Superfamily_domains:SSF47113,SMART_domains:SM00428,Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR11426	.	.	ENSP00000329554	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328488	Transcript	.	.	ENSG00000182572	4771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.302)	.	deleterious_low_confidence(0.01)	.	H31_HUMAN	HIST1H3I	HGNC	.	.	UPI00000003C7	SNV	HIST1H3I,missense_variant,p.Thr119Pro,ENST00000328488,;HIST1H1B,upstream_gene_variant,,ENST00000331442,;HIST1H4L,downstream_gene_variant,,ENST00000355981,;	361	108	95	SUCCESS
PRICKLE4	29964	.	GRCh37	6	41754595	41754596	+	downstream_gene_variant	3'Flank	INS	-	-	GC	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	53	0				ENST00000359201		295		0	.	.	.	.	.	GC	S/SX	protein_coding	YES	CCDS34449.1	883-884	INDELOCATOR|VARSCANI	.	GTTCCAGCCTG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF34	.	.	ENSP00000404911	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000458694	Transcript	.	.	ENSG00000124593	16805	2	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRIC4_HUMAN	PRICKLE4	HGNC	.	.	UPI000020DCD5	insertion	PRICKLE4,frameshift_variant,p.Leu296AlafsTer61,ENST00000394263,;PRICKLE4,frameshift_variant,p.Leu256AlafsTer61,ENST00000394260,;PRICKLE4,frameshift_variant,p.Leu296AlafsTer61,ENST00000458694,;PRICKLE4,downstream_gene_variant,,ENST00000359201,;FRS3,upstream_gene_variant,,ENST00000422888,;TOMM6,upstream_gene_variant,,ENST00000398881,;PRICKLE4,downstream_gene_variant,,ENST00000394259,;USP49,downstream_gene_variant,,ENST00000394253,;TOMM6,upstream_gene_variant,,ENST00000398884,;RP11-298J23.9,upstream_gene_variant,,ENST00000594586,;PRICKLE4,downstream_gene_variant,,ENST00000463606,;PRICKLE4,frameshift_variant,p.Leu296AlafsTer61,ENST00000335515,;PRICKLE4,3_prime_UTR_variant,,ENST00000456057,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000487182,;PRICKLE4,downstream_gene_variant,,ENST00000483200,;	1131-1132	53	49	SUCCESS
FUT9	10690	.	GRCh37	6	96657735	96657735	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	45	0	ENST00000302103.5:c.*5624A>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUSE|VARSCANS	.	AAATTAGAATT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	7030	45	38	SUCCESS
SDK1	221935	.	GRCh37	7	4308564	4308564	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	15	0	ENST00000404826.2:c.*3548C>A			ENST00000404826	NM_152744.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34590.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAACAACTT	NONE	.	.	.	.	.	ENSP00000385899	.	45/45	.	.	.	.	.	.	.	.	.	45/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,3_prime_UTR_variant,,ENST00000404826,;SDK1,downstream_gene_variant,,ENST00000389531,;SDK1,downstream_gene_variant,,ENST00000466611,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	10329	15	16	SUCCESS
WRN	7486	.	GRCh37	8	31030877	31030877	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IK-01	TCGA-CC-A7IK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	9	0	ENST00000298139.5:c.*259A>T			ENST00000298139	NM_000553.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6082.1	.	MUTECT|MUSE	.	CTGTTACTGTC	NONE	.	.	.	.	.	ENSP00000298139	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000298139	Transcript	1	.	ENSG00000165392	12791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WRN_HUMAN	WRN	HGNC	.	.	UPI000013E49D	SNV	WRN,3_prime_UTR_variant,,ENST00000298139,;RP11-363L24.3,intron_variant,,ENST00000521252,;RP11-363L24.3,intron_variant,,ENST00000523365,;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	4807	9	12	SUCCESS
MCMBP	79892	.	GRCh37	10	121590805	121590805	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	15	0	ENST00000360003.3:c.*181T>C			ENST00000360003	NM_001256378.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7617.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCAGTAAG	NONE	.	.	.	.	.	ENSP00000353098	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000360003	Transcript	.	.	ENSG00000197771	25782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCMBP_HUMAN	MCMBP	HGNC	.	.	UPI0000070023	SNV	MCMBP,3_prime_UTR_variant,,ENST00000360003,;MCMBP,3_prime_UTR_variant,,ENST00000369077,;INPP5F,downstream_gene_variant,,ENST00000361976,;INPP5F,downstream_gene_variant,,ENST00000369080,;MCMBP,non_coding_transcript_exon_variant,,ENST00000466047,;	2280	15	23	SUCCESS
ZNF488	118738	.	GRCh37	10	48372823	48372823	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	48	73	0	ENST00000395702.2:c.*1268A>T			ENST00000395702				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7217.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGATATTGTT	NONE	.	.	.	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	SNV	ZNF488,3_prime_UTR_variant,,ENST00000395702,;ZNF488,3_prime_UTR_variant,,ENST00000586537,;ZNF488,3_prime_UTR_variant,,ENST00000494156,;ZNF488,downstream_gene_variant,,ENST00000444585,;ZNF488,downstream_gene_variant,,ENST00000442001,;ZNF488,downstream_gene_variant,,ENST00000433077,;ZNF488,downstream_gene_variant,,ENST00000436850,;ZNF488,downstream_gene_variant,,ENST00000412534,;ZNF488,downstream_gene_variant,,ENST00000425196,;	2518	74	73	SUCCESS
NELL2	4753	.	GRCh37	12	44902472	44902472	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs548073138	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	18	0	ENST00000429094.2:c.*245G>A			ENST00000429094	NM_001145108.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS44863.1	.	MUTECT|MUSE	.	CTGTACGCCCA	NONE	by1000G	.	.	T:0.001	.	ENSP00000416341	T:0	21/21	.	.	.	.	.	.	.	.	rs548073138	21/21	PASS	ENST00000437801	Transcript	.	T:0.0002	ENSG00000184613	7751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	NELL2_HUMAN	NELL2	HGNC	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN	.	UPI000191537D	SNV	NELL2,3_prime_UTR_variant,,ENST00000551601,;NELL2,3_prime_UTR_variant,,ENST00000333837,;NELL2,3_prime_UTR_variant,,ENST00000549027,;NELL2,3_prime_UTR_variant,,ENST00000429094,;NELL2,3_prime_UTR_variant,,ENST00000437801,;NELL2,3_prime_UTR_variant,,ENST00000452445,;NELL2,3_prime_UTR_variant,,ENST00000395487,;	3218	18	15	SUCCESS
WNT10B	7480	.	GRCh37	12	49359734	49359734	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	8	0	ENST00000301061.4:c.*144G>T			ENST00000301061	NM_003394.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8775.1	.	MUTECT|MUSE	.	TGACCCCCACC	NONE	.	.	.	.	.	ENSP00000301061	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000301061	Transcript	.	.	ENSG00000169884	12775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WN10B_HUMAN	WNT10B	HGNC	C9JCI2_HUMAN	.	UPI0000138F21	SNV	WNT10B,3_prime_UTR_variant,,ENST00000403957,;WNT10B,3_prime_UTR_variant,,ENST00000301061,;WNT10B,3_prime_UTR_variant,,ENST00000407467,;WNT10B,downstream_gene_variant,,ENST00000420388,;WNT10B,downstream_gene_variant,,ENST00000413630,;WNT10B,downstream_gene_variant,,ENST00000475740,;	1663	8	9	SUCCESS
TMED10	10972	.	GRCh37	14	75601400	75601400	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	9	0	ENST00000303575.4:c.*188C>G			ENST00000303575	NM_006827.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9840.1	.	MUTECT|MUSE	.	AAAAAGAAGTC	NONE	.	.	.	.	.	ENSP00000303145	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000303575	Transcript	.	.	ENSG00000170348	16998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMEDA_HUMAN	TMED10	HGNC	B4DZH3_HUMAN	.	UPI0000137068	SNV	TMED10,3_prime_UTR_variant,,ENST00000303575,;RP11-950C14.7,intron_variant,,ENST00000556236,;TMED10,non_coding_transcript_exon_variant,,ENST00000557670,;TMED10,3_prime_UTR_variant,,ENST00000555873,;TMED10,non_coding_transcript_exon_variant,,ENST00000556969,;TMED10,non_coding_transcript_exon_variant,,ENST00000555036,;	900	9	11	SUCCESS
FAM169B	283777	.	GRCh37	15	98982733	98982733	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	12	0	ENST00000558256.1:c.*127G>A			ENST00000558256	NM_182562.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45360.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGGCCCGTG	NONE	.	.	.	.	.	ENSP00000453554	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000558256	Transcript	.	.	ENSG00000185087	26835	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F169B_HUMAN	FAM169B	HGNC	.	.	UPI0000199E5A	SNV	FAM169B,3_prime_UTR_variant,,ENST00000332908,;FAM169B,3_prime_UTR_variant,,ENST00000558256,;	956	12	18	SUCCESS
ZNF629	23361	.	GRCh37	16	30792906	30792906	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	10	0	ENST00000262525.4:c.*133A>G			ENST00000262525	NM_001080417.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45463.1	.	MUTECT|MUSE	.	TTTTTTCCCAG	NONE	.	.	.	.	.	ENSP00000262525	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000262525	Transcript	.	.	ENSG00000102870	29008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN629_HUMAN	ZNF629	HGNC	.	.	UPI00001C1FA5	SNV	ZNF629,3_prime_UTR_variant,,ENST00000262525,;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	2951	10	10	SUCCESS
ZNF492	57615	.	GRCh37	19	22848348	22848348	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	11	0	ENST00000456783.2:c.*281T>G			ENST00000456783	NM_020855.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46032.1	.	RADIA|MUTECT|MUSE	.	AAAAATAAGCA	NONE	.	.	.	.	.	ENSP00000413660	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,3_prime_UTR_variant,,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	2121	11	12	SUCCESS
CA14	23632	.	GRCh37	1	150237111	150237111	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	52	79	1	ENST00000369111.4:c.*52G>A			ENST00000369111	NM_012113.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS947.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAGGAAGCC	NONE	.	.	.	.	.	ENSP00000358107	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000369111	Transcript	.	.	ENSG00000118298	1372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH14_HUMAN	CA14	HGNC	A8K3J4_HUMAN	.	UPI00000389EA	SNV	CA14,3_prime_UTR_variant,,ENST00000607082,;CA14,3_prime_UTR_variant,,ENST00000369111,;APH1A,downstream_gene_variant,,ENST00000236017,;APH1A,downstream_gene_variant,,ENST00000360244,;APH1A,downstream_gene_variant,,ENST00000414276,;APH1A,downstream_gene_variant,,ENST00000369109,;C1orf54,upstream_gene_variant,,ENST00000369102,;snoU13,downstream_gene_variant,,ENST00000458929,;APH1A,downstream_gene_variant,,ENST00000493092,;APH1A,downstream_gene_variant,,ENST00000461320,;APH1A,downstream_gene_variant,,ENST00000486308,;APH1A,downstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000486720,;CA14,downstream_gene_variant,,ENST00000607751,;CA14,downstream_gene_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000483993,;	2036	80	136	SUCCESS
PMF1	11243	.	GRCh37	1	156209535	156209535	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	17	0	ENST00000368277.3:c.*143G>C			ENST00000368277	NM_007221.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55650.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGGCCAGA	NONE	.	.	.	.	.	ENSP00000458021	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000567140	Transcript	.	.	ENSG00000160783	9112	.	.	MODIFIER	4/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PMF1_HUMAN	PMF1	HGNC	.	.	UPI000046FD0A	SNV	PMF1,3_prime_UTR_variant,,ENST00000368273,;PMF1,3_prime_UTR_variant,,ENST00000368277,;PMF1,3_prime_UTR_variant,,ENST00000368279,;PMF1,intron_variant,,ENST00000567140,;PMF1-BGLAP,intron_variant,,ENST00000490491,;PMF1,intron_variant,,ENST00000565805,;PMF1-BGLAP,intron_variant,,ENST00000368276,;PMF1-BGLAP,intron_variant,,ENST00000320139,;PAQR6,downstream_gene_variant,,ENST00000540423,;PAQR6,downstream_gene_variant,,ENST00000368270,;PAQR6,downstream_gene_variant,,ENST00000335852,;PAQR6,downstream_gene_variant,,ENST00000340183,;BGLAP,upstream_gene_variant,,ENST00000368272,;PAQR6,downstream_gene_variant,,ENST00000292291,;PAQR6,downstream_gene_variant,,ENST00000356983,;PAQR6,downstream_gene_variant,,ENST00000491107,;PAQR6,downstream_gene_variant,,ENST00000492619,;PAQR6,downstream_gene_variant,,ENST00000468632,;PMF1,downstream_gene_variant,,ENST00000497069,;BGLAP,upstream_gene_variant,,ENST00000471413,;PMF1,downstream_gene_variant,,ENST00000606952,;	.	17	35	SUCCESS
KCNJ15	3772	.	GRCh37	21	39672726	39672726	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	39	0	ENST00000328656.4:c.*415A>C			ENST00000328656	NM_002243.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13656.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCAGTATT	NONE	.	.	.	.	.	ENSP00000331698	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328656	Transcript	.	.	ENSG00000157551	6261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK15_HUMAN	KCNJ15	HGNC	F8VX74_HUMAN,F8VW46_HUMAN,E7EWV2_HUMAN,E7EPG3_HUMAN,C9JTX1_HUMAN,A8MVK1_HUMAN,A8MTZ5_HUMAN	.	UPI000006E337	SNV	KCNJ15,3_prime_UTR_variant,,ENST00000328656,;KCNJ15,3_prime_UTR_variant,,ENST00000398930,;KCNJ15,3_prime_UTR_variant,,ENST00000398938,;KCNJ15,3_prime_UTR_variant,,ENST00000398934,;KCNJ15,3_prime_UTR_variant,,ENST00000398932,;KCNJ15,downstream_gene_variant,,ENST00000398928,;KCNJ15,downstream_gene_variant,,ENST00000398927,;KCNJ15,downstream_gene_variant,,ENST00000398925,;KCNJ15,downstream_gene_variant,,ENST00000438657,;KCNJ15,downstream_gene_variant,,ENST00000549805,;KCNJ15,downstream_gene_variant,,ENST00000417042,;KCNJ15,downstream_gene_variant,,ENST00000548700,;KCNJ15,downstream_gene_variant,,ENST00000419868,;KCNJ15,downstream_gene_variant,,ENST00000549932,;KCNJ15,downstream_gene_variant,,ENST00000547595,;KCNJ15,downstream_gene_variant,,ENST00000549158,;KCNJ15,downstream_gene_variant,,ENST00000547341,;KCNJ15,downstream_gene_variant,,ENST00000551422,;KCNJ15,downstream_gene_variant,,ENST00000443341,;	1846	39	43	SUCCESS
CCT8L2	150160	.	GRCh37	22	17071712	17071712	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	50	0	ENST00000359963.3:c.*55G>C			ENST00000359963	NM_014406.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13738.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATTCATTTT	NONE	.	.	.	.	.	ENSP00000353048	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359963	Transcript	.	.	ENSG00000198445	15553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPQM_HUMAN	CCT8L2	HGNC	.	.	UPI000006CF87	SNV	CCT8L2,3_prime_UTR_variant,,ENST00000359963,;FABP5P11,downstream_gene_variant,,ENST00000430910,;	1989	50	26	SUCCESS
EWSR1	2130	.	GRCh37	22	29696321	29696321	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs573094995	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	38	68	0	ENST00000397938.2:c.*170A>G			ENST00000397938	NM_001163286.1			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS13852.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTAAATGGTA	NONE	by1000G	.	.	G:0	.	ENSP00000400142	G:0.001	18/18	.	.	.	.	.	.	.	.	rs573094995	18/18	PASS	ENST00000414183	Transcript	.	G:0.0002	ENSG00000182944	3508	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	EWS_HUMAN	EWSR1	HGNC	.	.	UPI000006DE88	SNV	EWSR1,3_prime_UTR_variant,,ENST00000406548,;EWSR1,3_prime_UTR_variant,,ENST00000414183,;EWSR1,3_prime_UTR_variant,,ENST00000332050,;EWSR1,3_prime_UTR_variant,,ENST00000397938,;EWSR1,3_prime_UTR_variant,,ENST00000332035,;EWSR1,3_prime_UTR_variant,,ENST00000331029,;EWSR1,3_prime_UTR_variant,,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;	2177	68	75	SUCCESS
GAS2L1	10634	.	GRCh37	22	29708064	29708064	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	31	1	ENST00000341313.6:c.*1072G>A			ENST00000341313				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|VARSCANS	.	CCACTGGACCA	NONE	.	.	.	.	.	ENSP00000344012	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341313	Transcript	.	.	ENSG00000185340	16955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GA2L1_HUMAN	GAS2L1	HGNC	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN	.	UPI0000161439	SNV	GAS2L1,3_prime_UTR_variant,,ENST00000341313,;GAS2L1,3_prime_UTR_variant,,ENST00000403764,;GAS2L1,3_prime_UTR_variant,,ENST00000407854,;GAS2L1,3_prime_UTR_variant,,ENST00000471961,;GAS2L1,3_prime_UTR_variant,,ENST00000360113,;GAS2L1,3_prime_UTR_variant,,ENST00000407647,;GAS2L1,intron_variant,,ENST00000406549,;RASL10A,downstream_gene_variant,,ENST00000401450,;GAS2L1,downstream_gene_variant,,ENST00000428622,;GAS2L1,downstream_gene_variant,,ENST00000416823,;RASL10A,downstream_gene_variant,,ENST00000216101,;AC002059.10,downstream_gene_variant,,ENST00000608014,;RASL10A,downstream_gene_variant,,ENST00000474590,;RASL10A,downstream_gene_variant,,ENST00000608559,;GAS2L1,downstream_gene_variant,,ENST00000487341,;GAS2L1,downstream_gene_variant,,ENST00000491016,;	2218	32	45	SUCCESS
NCKAP1	10787	.	GRCh37	2	183790208	183790208	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1188198304	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	27	0	ENST00000361354.4:c.*222A>G			ENST00000361354				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2288.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATTATAGG	NONE	.	.	.	.	.	ENSP00000354251	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000360982	Transcript	.	.	ENSG00000061676	7666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKP1_HUMAN	NCKAP1	HGNC	.	.	UPI00001693F2	SNV	NCKAP1,3_prime_UTR_variant,,ENST00000360982,;NCKAP1,3_prime_UTR_variant,,ENST00000361354,;NCKAP1,downstream_gene_variant,,ENST00000478449,;NCKAP1,downstream_gene_variant,,ENST00000477988,;	4386	27	15	SUCCESS
ARF5	381	.	GRCh37	7	127231497	127231497	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	16	0	ENST00000000233.5:c.*144A>C			ENST00000000233	NM_001662.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCATGTTC	NONE	.	.	.	.	.	ENSP00000000233	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000000233	Transcript	.	.	ENSG00000004059	658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARF5_HUMAN	ARF5	HGNC	A4D0Z3_HUMAN	.	UPI0000044DA0	SNV	ARF5,3_prime_UTR_variant,,ENST00000000233,;FSCN3,upstream_gene_variant,,ENST00000265825,;FSCN3,upstream_gene_variant,,ENST00000420086,;FSCN3,upstream_gene_variant,,ENST00000478821,;ARF5,downstream_gene_variant,,ENST00000415666,;FSCN3,non_coding_transcript_exon_variant,,ENST00000478328,;GCC1,intron_variant,,ENST00000497650,;GCC1,downstream_gene_variant,,ENST00000473728,;ARF5,downstream_gene_variant,,ENST00000467281,;ARF5,non_coding_transcript_exon_variant,,ENST00000463733,;ARF5,downstream_gene_variant,,ENST00000459680,;FSCN3,upstream_gene_variant,,ENST00000469242,;ARF5,downstream_gene_variant,,ENST00000489673,;FSCN3,upstream_gene_variant,,ENST00000421705,;	841	16	16	SUCCESS
PPAPDC2	0	.	GRCh37	9	4664727	4664727	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1310104502	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	122	0	ENST00000381883.2:c.*1464C>T			ENST00000381883	NM_203453.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34981.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATACGGAGG	NONE	.	.	.	.	.	ENSP00000371307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381883	Transcript	.	.	ENSG00000205808	23682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPAC2_HUMAN	PPAPDC2	HGNC	.	.	UPI00000529F4	SNV	PPAPDC2,3_prime_UTR_variant,,ENST00000381883,;SPATA6L,intron_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000381890,;SPATA6L,intron_variant,,ENST00000454239,;SPATA6L,intron_variant,,ENST00000485981,;SPATA6L,intron_variant,,ENST00000497383,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,intron_variant,,ENST00000496798,;SPATA6L,intron_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000461761,;SPATA6L,intron_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000471669,;SPATA6L,intron_variant,,ENST00000406861,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,intron_variant,,ENST00000486047,;	2430	122	59	SUCCESS
ERMP1	79956	.	GRCh37	9	5787026	5787026	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A7IL-01	TCGA-CC-A7IL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	19	0	ENST00000339450.5:c.*118A>G			ENST00000339450	NM_024896.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34983.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTCTTTGAA	NONE	.	.	.	.	.	ENSP00000340427	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000339450	Transcript	.	.	ENSG00000099219	23703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ERMP1_HUMAN	ERMP1	HGNC	D3DRI3_HUMAN	.	UPI00001D7694	SNV	ERMP1,3_prime_UTR_variant,,ENST00000339450,;ERMP1,downstream_gene_variant,,ENST00000381506,;ERMP1,downstream_gene_variant,,ENST00000543230,;ERMP1,non_coding_transcript_exon_variant,,ENST00000214893,;ERMP1,3_prime_UTR_variant,,ENST00000489219,;ERMP1,intron_variant,,ENST00000462592,;ERMP1,downstream_gene_variant,,ENST00000487088,;	2923	19	16	SUCCESS
GLRX3	10539	.	GRCh37	10	131977757	131977757	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs893252586	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	65	300	0	ENST00000331244.5:c.*101C>T			ENST00000331244	NM_006541.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7661.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTCCTGCT	NONE	.	.	.	.	.	ENSP00000357633	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368644	Transcript	.	.	ENSG00000108010	15987	.	.	MODIFIER	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLRX3_HUMAN	GLRX3	HGNC	.	.	UPI000006E4EA	SNV	GLRX3,3_prime_UTR_variant,,ENST00000331244,;GLRX3,intron_variant,,ENST00000368644,;GLRX3,intron_variant,,ENST00000496195,;GLRX3,intron_variant,,ENST00000481034,;	.	300	212	SUCCESS
LUZP2	338645	.	GRCh37	11	24518665	24518665	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	52	0				ENST00000336930				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31446.1	.	MUTECT|MUSE	.	GTCTCCGCCTT	NONE	.	59	.	.	.	ENSP00000336817	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336930	Transcript	.	.	ENSG00000187398	23206	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LUZP2_HUMAN	LUZP2	HGNC	.	.	UPI000019816C	SNV	LUZP2,upstream_gene_variant,,ENST00000529015,;LUZP2,upstream_gene_variant,,ENST00000336930,;LUZP2,upstream_gene_variant,,ENST00000533227,;LUZP2,non_coding_transcript_exon_variant,,ENST00000531187,;LUZP2,non_coding_transcript_exon_variant,,ENST00000449567,;LUZP2,upstream_gene_variant,,ENST00000405855,;	.	52	31	SUCCESS
ASCL4	121549	.	GRCh37	12	108169650	108169650	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	45	0	ENST00000342331.4:c.*136A>C			ENST00000342331	NM_203436.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31894.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAATGGG	NONE	.	.	.	.	.	ENSP00000345420	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342331	Transcript	.	.	ENSG00000187855	24311	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASCL4_HUMAN	ASCL4	HGNC	.	.	UPI00001973FA	SNV	ASCL4,3_prime_UTR_variant,,ENST00000342331,;	1489	45	40	SUCCESS
PIK3C2G	5288	.	GRCh37	12	18801061	18801061	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	42	0	ENST00000266497.5:c.*99C>T			ENST00000266497				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44839.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGACAGCAC	NONE	.	.	.	.	.	ENSP00000404845	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000433979	Transcript	.	.	ENSG00000139144	8973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P3C2G_HUMAN	PIK3C2G	HGNC	.	.	UPI000013D6EF	SNV	PIK3C2G,3_prime_UTR_variant,,ENST00000266497,;PIK3C2G,3_prime_UTR_variant,,ENST00000433979,;PIK3C2G,downstream_gene_variant,,ENST00000538779,;PIK3C2G,downstream_gene_variant,,ENST00000546003,;	4553	42	36	SUCCESS
CCDC91	55297	.	GRCh37	12	28702187	28702187	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	29	172	0	ENST00000381259.1:c.*81G>A			ENST00000381259	NM_018318.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8716.1	.	MUTECT|MUSE|VARSCANS	.	GATGTGTTTGT	NONE	.	.	.	.	.	ENSP00000438040	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000545336	Transcript	.	.	ENSG00000123106	24855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD91_HUMAN	CCDC91	HGNC	F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN	.	UPI00001AEE23	SNV	CCDC91,3_prime_UTR_variant,,ENST00000381256,;CCDC91,3_prime_UTR_variant,,ENST00000545336,;CCDC91,3_prime_UTR_variant,,ENST00000306172,;CCDC91,3_prime_UTR_variant,,ENST00000539107,;CCDC91,3_prime_UTR_variant,,ENST00000381259,;CCDC91,intron_variant,,ENST00000541792,;CCDC91,intron_variant,,ENST00000542814,;CCDC91,intron_variant,,ENST00000542801,;CCDC91,intron_variant,,ENST00000543019,;CCDC91,downstream_gene_variant,,ENST00000540401,;CCDC91,intron_variant,,ENST00000539270,;CCDC91,downstream_gene_variant,,ENST00000535520,;CCDC91,downstream_gene_variant,,ENST00000543809,;	1826	172	143	SUCCESS
KCNA1	3736	.	GRCh37	12	5022104	5022104	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	32	127	0	ENST00000382545.3:c.*72T>C			ENST00000382545	NM_000217.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8535.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCTAGTGA	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	2667	127	132	SUCCESS
KLHL1	57626	.	GRCh37	13	70275789	70275789	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs778954310	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	285	78	401	0	ENST00000377844.4:c.*45T>C			ENST00000377844	NM_020866.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9445.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATAACCAC	NONE	.	.	.	.	.	ENSP00000367075	.	11/11	.	.	.	.	.	.	.	.	rs778954310	11/11	PASS	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,3_prime_UTR_variant,,ENST00000545028,;KLHL1,3_prime_UTR_variant,,ENST00000377844,;	3052	401	363	SUCCESS
SLITRK6	84189	.	GRCh37	13	86367920	86367920	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	8	0	ENST00000400286.2:c.*198C>T			ENST00000400286	NM_032229.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41903.1	.	MUTECT|MUSE|VARSCANS	.	GGACAGACTAA	NONE	.	.	.	.	.	ENSP00000383143	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000400286	Transcript	.	.	ENSG00000184564	23503	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLIK6_HUMAN	SLITRK6	HGNC	.	.	UPI000004C9D6	SNV	SLITRK6,3_prime_UTR_variant,,ENST00000400286,;	3323	8	14	SUCCESS
SLC28A2	9153	.	GRCh37	15	45567822	45567822	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	25	0	ENST00000347644.3:c.*111A>C			ENST00000347644	NM_004212.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10121.1	.	MUTECT|MUSE	.	CAGTAAGTAAC	NONE	.	.	.	.	.	ENSP00000315006	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000347644	Transcript	.	.	ENSG00000137860	11002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S28A2_HUMAN	SLC28A2	HGNC	.	.	UPI000013D0D5	SNV	SLC28A2,3_prime_UTR_variant,,ENST00000347644,;CTD-2651B20.3,intron_variant,,ENST00000560344,;CTD-2651B20.3,intron_variant,,ENST00000561404,;SLC28A2,non_coding_transcript_exon_variant,,ENST00000560767,;	2153	25	24	SUCCESS
C2CD4A	145741	.	GRCh37	15	62361579	62361579	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	51	0	ENST00000355522.5:c.*657T>G			ENST00000355522	NM_207322.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32258.1	.	MUTECT|MUSE	.	GAATTTGAGAC	NONE	.	.	.	.	.	ENSP00000347712	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355522	Transcript	.	.	ENSG00000198535	33627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C2C4A_HUMAN	C2CD4A	HGNC	.	.	UPI0000140CF2	SNV	C2CD4A,3_prime_UTR_variant,,ENST00000355522,;	1908	51	53	SUCCESS
POTEC	388468	.	GRCh37	18	14543306	14543306	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	32	0				ENST00000358970	NM_001137671.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45835.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCACCCA	NONE	.	161	.	.	.	ENSP00000351856	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,upstream_gene_variant,,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,5_prime_UTR_variant,,ENST00000511306,;	.	32	39	SUCCESS
ABHD3	171586	.	GRCh37	18	19231483	19231483	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	44	0	ENST00000289119.2:c.*69T>G			ENST00000289119	NM_138340.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32802.1	.	MUTECT|MUSE	.	GTTAAAATTTG	NONE	.	.	.	.	.	ENSP00000289119	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000289119	Transcript	.	.	ENSG00000158201	18718	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABHD3_HUMAN	ABHD3	HGNC	.	.	UPI0000163938	SNV	ABHD3,3_prime_UTR_variant,,ENST00000580981,;ABHD3,3_prime_UTR_variant,,ENST00000289119,;ABHD3,3_prime_UTR_variant,,ENST00000578270,;ABHD3,downstream_gene_variant,,ENST00000580477,;ABHD3,downstream_gene_variant,,ENST00000577564,;	1439	44	34	SUCCESS
DCC	1630	.	GRCh37	18	51057047	51057047	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	18	72	0	ENST00000442544.2:c.*24T>A			ENST00000442544	NM_005215.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11952.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTGAATT	NONE	.	.	.	.	.	ENSP00000389140	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,3_prime_UTR_variant,,ENST00000442544,;DCC,downstream_gene_variant,,ENST00000581580,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,downstream_gene_variant,,ENST00000577224,;DCC,downstream_gene_variant,,ENST00000579702,;	4984	72	53	SUCCESS
IVL	3713	.	GRCh37	1	152884340	152884340	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	19	96	0	ENST00000368764.3:c.*309A>G			ENST00000368764				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1030.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAAATCCTG	NONE	.	.	.	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,3_prime_UTR_variant,,ENST00000368764,;IVL,3_prime_UTR_variant,,ENST00000392667,;	2131	96	96	SUCCESS
UBAP2L	9898	.	GRCh37	1	154243295	154243295	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	43	0	ENST00000361546.2:c.*524G>T			ENST00000361546				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1063.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AATGTGTCTTG	NONE	.	.	.	.	.	ENSP00000389445	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,3_prime_UTR_variant,,ENST00000361546,;UBAP2L,3_prime_UTR_variant,,ENST00000428931,;UBAP2L,intron_variant,,ENST00000433615,;UBAP2L,intron_variant,,ENST00000271877,;HAX1,upstream_gene_variant,,ENST00000435087,;HAX1,upstream_gene_variant,,ENST00000328703,;UBAP2L,downstream_gene_variant,,ENST00000428595,;HAX1,upstream_gene_variant,,ENST00000483970,;HAX1,upstream_gene_variant,,ENST00000532105,;HAX1,upstream_gene_variant,,ENST00000457918,;UBAP2L,intron_variant,,ENST00000493867,;UBAP2L,downstream_gene_variant,,ENST00000484819,;HAX1,upstream_gene_variant,,ENST00000531435,;HAX1,upstream_gene_variant,,ENST00000447768,;HAX1,upstream_gene_variant,,ENST00000471326,;HAX1,upstream_gene_variant,,ENST00000492550,;HAX1,upstream_gene_variant,,ENST00000477780,;HAX1,upstream_gene_variant,,ENST00000459914,;	3955	43	32	SUCCESS
ST6GALNAC5	81849	.	GRCh37	1	77529061	77529061	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	26	0	ENST00000477717.1:c.*170A>T			ENST00000477717	NM_030965.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS673.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTAAGGAA	NONE	.	.	.	.	.	ENSP00000417583	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000477717	Transcript	.	.	ENSG00000117069	19342	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIA7E_HUMAN	ST6GALNAC5	HGNC	B4DHB7_HUMAN	.	UPI0000001C9F	SNV	ST6GALNAC5,3_prime_UTR_variant,,ENST00000477717,;RP4-564M11.2,upstream_gene_variant,,ENST00000454305,;ST6GALNAC5,3_prime_UTR_variant,,ENST00000318803,;	1416	26	23	SUCCESS
MOCS3	27304	.	GRCh37	20	49577347	49577347	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	42	0	ENST00000244051.1:c.*585C>T			ENST00000244051	NM_014484.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13435.1	.	MUTECT|MUSE	.	GCGATCTCAGC	NONE	.	.	.	.	.	ENSP00000244051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244051	Transcript	.	.	ENSG00000124217	15765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MOCS3_HUMAN	MOCS3	HGNC	.	.	UPI000012F369	SNV	MOCS3,3_prime_UTR_variant,,ENST00000244051,;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000371588,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000466152,;	1985	42	24	SUCCESS
CRYBB3	1417	.	GRCh37	22	25603290	25603290	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	20	0	ENST00000215855.2:c.*111T>A			ENST00000215855	NM_004076.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13830.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCTGCTCA	NONE	.	.	.	.	.	ENSP00000215855	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000215855	Transcript	.	.	ENSG00000100053	2400	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRBB3_HUMAN	CRYBB3	HGNC	.	.	UPI000013C6A0	SNV	CRYBB3,3_prime_UTR_variant,,ENST00000215855,;CRYBB3,downstream_gene_variant,,ENST00000404334,;	827	20	18	SUCCESS
MAFF	23764	.	GRCh37	22	38611943	38611943	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs920126819	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	55	0	ENST00000338483.2:c.*1058C>T			ENST00000338483				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13968.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCACGGATC	NONE	.	.	.	.	.	ENSP00000345393	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000338483	Transcript	.	.	ENSG00000185022	6780	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAFF_HUMAN	MAFF	HGNC	B0QY71_HUMAN,B0QY70_HUMAN	.	UPI0000062338	SNV	MAFF,3_prime_UTR_variant,,ENST00000407965,;MAFF,3_prime_UTR_variant,,ENST00000338483,;MAFF,3_prime_UTR_variant,,ENST00000426621,;MAFF,3_prime_UTR_variant,,ENST00000538999,;MAFF,3_prime_UTR_variant,,ENST00000538320,;TMEM184B,downstream_gene_variant,,ENST00000361906,;TMEM184B,downstream_gene_variant,,ENST00000361684,;MAFF,downstream_gene_variant,,ENST00000441709,;MAFF,downstream_gene_variant,,ENST00000417948,;TMEM184B,downstream_gene_variant,,ENST00000436674,;AL021977.1,downstream_gene_variant,,ENST00000541788,;	1915	55	55	SUCCESS
AMER3	205147	.	GRCh37	2	131523143	131523143	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	63	0				ENST00000321420				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2164.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACGTTTTTA	NONE	.	.	.	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,3_prime_UTR_variant,,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000431758,;	3608	63	71	SUCCESS
MYO1B	4430	.	GRCh37	2	192288727	192288727	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs760588702	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	119	0	ENST00000304164.4:c.*41A>C			ENST00000304164	NM_001161819.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46477.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTAATAGT	NONE	.	.	.	.	.	ENSP00000376132	.	31/31	.	.	.	.	.	.	.	.	rs760588702	31/31	PASS	ENST00000392318	Transcript	.	.	ENSG00000128641	7596	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYO1B_HUMAN	MYO1B	HGNC	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN	.	UPI00001A9466	SNV	MYO1B,3_prime_UTR_variant,,ENST00000392316,;MYO1B,3_prime_UTR_variant,,ENST00000392318,;MYO1B,3_prime_UTR_variant,,ENST00000339514,;MYO1B,3_prime_UTR_variant,,ENST00000439065,;MYO1B,3_prime_UTR_variant,,ENST00000304164,;MYO1B,non_coding_transcript_exon_variant,,ENST00000490069,;	3699	119	96	SUCCESS
RAP2B	5912	.	GRCh37	3	152884857	152884857	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	21	96	0	ENST00000323534.2:c.*3823A>C			ENST00000323534	NM_002886.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3170.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCACTGTT	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,3_prime_UTR_variant,,ENST00000323534,;	4829	96	88	SUCCESS
ADH1B	125	.	GRCh37	4	100228991	100228991	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs774463975	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	103	44	147	0	ENST00000305046.8:c.*6T>C			ENST00000305046				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTATTGCC	NONE	.	.	.	.	.	ENSP00000306606	.	9/9	.	.	.	.	.	.	.	.	rs774463975	9/9	PASS	ENST00000305046	Transcript	1	.	ENSG00000196616	250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADH1B_HUMAN	ADH1B	HGNC	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN	.	UPI00001699B5	SNV	ADH1B,3_prime_UTR_variant,,ENST00000394887,;ADH1B,3_prime_UTR_variant,,ENST00000305046,;ADH1B,3_prime_UTR_variant,,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;	1202	147	147	SUCCESS
C4orf45	152940	.	GRCh37	4	159814823	159814823	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	14	71	0	ENST00000434826.2:c.*32A>C			ENST00000434826	NM_152543.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47156.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTAAAAG	NONE	.	.	.	.	.	ENSP00000412215	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000434826	Transcript	.	.	ENSG00000164123	26342	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD045_HUMAN	C4orf45	HGNC	.	.	UPI000022C48A	SNV	C4orf45,3_prime_UTR_variant,,ENST00000434826,;FNIP2,intron_variant,,ENST00000379346,;FNIP2,intron_variant,,ENST00000264433,;C4orf45,non_coding_transcript_exon_variant,,ENST00000508011,;FNIP2,downstream_gene_variant,,ENST00000505130,;	678	71	93	SUCCESS
PCDHB13	56123	.	GRCh37	5	140596264	140596264	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	33	138	0	ENST00000341948.4:c.*172A>G			ENST00000341948	NM_018933.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4255.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTAAAAGG	NONE	.	.	.	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,3_prime_UTR_variant,,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	2756	138	128	SUCCESS
IL17B	27190	.	GRCh37	5	148753864	148753864	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	22	0	ENST00000261796.3:c.*68G>C			ENST00000261796	NM_014443.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4297.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGCCTTTC	NONE	.	.	.	.	.	ENSP00000261796	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000261796	Transcript	.	.	ENSG00000127743	5982	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL17B_HUMAN	IL17B	HGNC	.	.	UPI0000034D64	SNV	IL17B,3_prime_UTR_variant,,ENST00000261796,;PCYOX1L,downstream_gene_variant,,ENST00000274569,;PCYOX1L,downstream_gene_variant,,ENST00000514349,;RP11-394O4.3,intron_variant,,ENST00000521756,;IL17B,non_coding_transcript_exon_variant,,ENST00000518814,;IL17B,downstream_gene_variant,,ENST00000505432,;PCYOX1L,downstream_gene_variant,,ENST00000505669,;PCYOX1L,downstream_gene_variant,,ENST00000507621,;PCYOX1L,downstream_gene_variant,,ENST00000511945,;PCYOX1L,downstream_gene_variant,,ENST00000503240,;	662	22	25	SUCCESS
PWWP2A	114825	.	GRCh37	5	159519263	159519263	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	16	0	ENST00000307063.7:c.*126T>G			ENST00000307063	NM_001130864.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47332.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAAAAAGCC	NONE	.	.	.	.	.	ENSP00000305151	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307063	Transcript	.	.	ENSG00000170234	29406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PWP2A_HUMAN	PWWP2A	HGNC	.	.	UPI0000EE3692	SNV	PWWP2A,3_prime_UTR_variant,,ENST00000307063,;PWWP2A,intron_variant,,ENST00000523662,;PWWP2A,intron_variant,,ENST00000456329,;PWWP2A,intron_variant,,ENST00000524050,;PWWP2A,intron_variant,,ENST00000521424,;PWWP2A,downstream_gene_variant,,ENST00000520662,;	2429	16	18	SUCCESS
C5orf22	55322	.	GRCh37	5	31553188	31553188	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000325366.9:c.*179G>C			ENST00000325366	NM_018356.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3895.1	.	MUTECT|MUSE	.	TTTTGGCATCA	NONE	.	.	.	.	.	ENSP00000326879	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000325366	Transcript	.	.	ENSG00000082213	25639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE022_HUMAN	C5orf22	HGNC	.	.	UPI000006FDD5	SNV	C5orf22,3_prime_UTR_variant,,ENST00000325366,;C5orf22,3_prime_UTR_variant,,ENST00000355907,;C5orf22,non_coding_transcript_exon_variant,,ENST00000504866,;C5orf22,3_prime_UTR_variant,,ENST00000510659,;C5orf22,downstream_gene_variant,,ENST00000513967,;	1635	11	12	SUCCESS
IRX1	79192	.	GRCh37	5	3601294	3601294	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	21	0	ENST00000302006.3:c.*140C>T			ENST00000302006	NM_024337.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34132.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CGTCGCTTTCT	NONE	.	.	.	.	.	ENSP00000305244	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,3_prime_UTR_variant,,ENST00000302006,;CTD-2012M11.3,upstream_gene_variant,,ENST00000559410,;	1635	21	14	SUCCESS
SLC26A7	115111	.	GRCh37	8	92407417	92407417	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	29	0	ENST00000276609.3:c.*92C>G			ENST00000276609	NM_052832.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6255.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATCCTACA	NONE	.	471	.	.	.	ENSP00000309504	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309536	Transcript	.	.	ENSG00000147606	14467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S26A7_HUMAN	SLC26A7	HGNC	E5RFH2_HUMAN	.	UPI0000046B1C	SNV	SLC26A7,3_prime_UTR_variant,,ENST00000276609,;SLC26A7,3_prime_UTR_variant,,ENST00000523719,;SLC26A7,downstream_gene_variant,,ENST00000309536,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,downstream_gene_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;	.	29	40	SUCCESS
IFNA17	3451	.	GRCh37	9	21227535	21227535	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	24	100	0	ENST00000413767.2:c.*68C>T			ENST00000413767	NM_021268.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6500.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATGGAGGA	NONE	.	.	.	.	.	ENSP00000411940	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000413767	Transcript	.	.	ENSG00000234829	5422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFN17_HUMAN	IFNA17	HGNC	Q9UMJ2_HUMAN	.	UPI0000052AF9	SNV	IFNA17,3_prime_UTR_variant,,ENST00000413767,;IFNWP5,downstream_gene_variant,,ENST00000445100,;	687	100	108	SUCCESS
IFNA17	3451	.	GRCh37	9	21227536	21227536	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs190681226	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	25	100	0	ENST00000413767.2:c.*67C>A			ENST00000413767	NM_021268.2			0	.	C:0	.	C:0	.	T	.	protein_coding	YES	CCDS6500.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGGAGGAA	NONE	by1000G	.	.	C:0.001	.	ENSP00000411940	C:0	1/1	.	.	.	.	.	.	.	.	rs190681226	1/1	PASS	ENST00000413767	Transcript	.	C:0.0002	ENSG00000234829	5422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	IFN17_HUMAN	IFNA17	HGNC	Q9UMJ2_HUMAN	.	UPI0000052AF9	SNV	IFNA17,3_prime_UTR_variant,,ENST00000413767,;IFNWP5,downstream_gene_variant,,ENST00000445100,;	686	100	108	SUCCESS
PDCD1LG2	80380	.	GRCh37	9	5570108	5570108	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	18	0	ENST00000397747.3:c.*149C>A			ENST00000397747	NM_025239.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6465.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCAACAAGAC	NONE	.	.	.	.	.	ENSP00000380855	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000397747	Transcript	.	.	ENSG00000197646	18731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PD1L2_HUMAN	PDCD1LG2	HGNC	.	.	UPI0000050EF2	SNV	PDCD1LG2,3_prime_UTR_variant,,ENST00000397747,;PDCD1LG2,3_prime_UTR_variant,,ENST00000397745,;	1219	18	34	SUCCESS
NR0B1	190	.	GRCh37	X	30322643	30322643	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A8HT-01	TCGA-CC-A8HT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	10	0	ENST00000378970.4:c.*53A>G			ENST00000378970	NM_000475.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14223.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTTATTCT	NONE	.	.	.	.	.	ENSP00000368253	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378970	Transcript	.	.	ENSG00000169297	7960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR0B1_HUMAN	NR0B1	HGNC	F1D8P4_HUMAN	.	UPI0000128ED4	SNV	NR0B1,3_prime_UTR_variant,,ENST00000378970,;NR0B1,downstream_gene_variant,,ENST00000453287,;NR0B1,downstream_gene_variant,,ENST00000378963,;	1701	10	19	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	24	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|MUSE	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	24	21	SUCCESS
PAPSS2	9060	.	GRCh37	10	89505887	89505887	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs967682995	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	17	0	ENST00000361175.4:c.*160C>T			ENST00000361175	NM_004670.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44453.1	.	MUTECT|MUSE	.	ATATACACACA	NONE	.	.	.	.	.	ENSP00000406157	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000456849	Transcript	1	.	ENSG00000198682	8604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAPS2_HUMAN	PAPSS2	HGNC	.	.	UPI000002B182	SNV	PAPSS2,3_prime_UTR_variant,,ENST00000456849,;PAPSS2,3_prime_UTR_variant,,ENST00000361175,;PAPSS2,downstream_gene_variant,,ENST00000427144,;	2283	17	17	SUCCESS
H2AFJ	0	.	GRCh37	12	14928690	14928690	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	20	69	0	ENST00000544848.1:c.*896A>G			ENST00000544848	NM_177925.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAAACAAAA	NONE	.	.	.	.	.	ENSP00000438553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000544848	Transcript	.	.	ENSG00000246705	14456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	SNV	H2AFJ,3_prime_UTR_variant,,ENST00000544848,;HIST4H4,upstream_gene_variant,,ENST00000539745,;HIST4H4,upstream_gene_variant,,ENST00000540565,;H2AFJ,3_prime_UTR_variant,,ENST00000501744,;H2AFJ,downstream_gene_variant,,ENST00000389078,;HIST4H4,upstream_gene_variant,,ENST00000358064,;	1421	69	79	SUCCESS
NPAP1	23742	.	GRCh37	15	24927128	24927128	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1426343257	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	41	111	0	ENST00000329468.2:c.*2643G>A			ENST00000329468	NM_018958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCTGGA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6588	111	85	SUCCESS
SLC35G3	146861	.	GRCh37	17	33520198	33520198	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	27	0	ENST00000297307.5:c.*112T>C			ENST00000297307	NM_152462.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11293.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTATCCCT	NONE	.	.	.	.	.	ENSP00000297307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000297307	Transcript	.	.	ENSG00000164729	26848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35G3_HUMAN	SLC35G3	HGNC	.	.	UPI000006FEAB	SNV	SLC35G3,3_prime_UTR_variant,,ENST00000297307,;UNC45B,downstream_gene_variant,,ENST00000378449,;UNC45B,downstream_gene_variant,,ENST00000433649,;UNC45B,downstream_gene_variant,,ENST00000268876,;UNC45B,downstream_gene_variant,,ENST00000394570,;RP11-799D4.2,downstream_gene_variant,,ENST00000590144,;RP11-799D4.1,downstream_gene_variant,,ENST00000592961,;	1215	27	20	SUCCESS
GNAS-AS1	149775	.	GRCh37	20	57429286	57429286	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs762117523	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	93	109	0				ENST00000424094		322		0	.	.	.	.	.	T	P	protein_coding	YES	CCDS46622.1	966	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCCGTCAA	NONE	byFrequency	.	.	.	.	ENSP00000360141	.	1/13	.	.	.	.	.	.	.	.	rs762117523,COSM343581	1/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	LOW	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Pro259Leu,ENST00000306120,;GNAS,synonymous_variant,p.%3D,ENST00000371102,;GNAS,synonymous_variant,p.%3D,ENST00000371099,;GNAS,synonymous_variant,p.%3D,ENST00000371100,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000371075,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000467227,;	1518	109	179	SUCCESS
B3GALT5	10317	.	GRCh37	21	41033441	41033441	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs373768451	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	4	143	0	ENST00000343118.4:c.*22G>T			ENST00000343118	NM_033171.2			0	A:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS13667.1	.	MUTECT|MUSE	.	CATCCGGACAA	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000369994	.	5/5	.	.	.	.	.	.	.	.	rs373768451	5/5	PASS	ENST00000380620	Transcript	.	.	ENSG00000183778	920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3GT5_HUMAN	B3GALT5	HGNC	.	.	UPI0000126713	SNV	B3GALT5,3_prime_UTR_variant,,ENST00000380620,;B3GALT5,3_prime_UTR_variant,,ENST00000398714,;B3GALT5,3_prime_UTR_variant,,ENST00000343118,;B3GALT5,3_prime_UTR_variant,,ENST00000380618,;AF064860.5,intron_variant,,ENST00000416555,;	1547	143	85	SUCCESS
DHX57	90957	.	GRCh37	2	39046259	39046261	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	DEL	CTT	CTT	-	rs770136975	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	CTT	CTT	.	.	.	.	.	.	.	.	.	.	.	.	.	85	44	184	0	ENST00000457308.1:c.*1615_*1617del			ENST00000457308		1106		0	.	.	.	.	.	-	EA/A	protein_coding	YES	CCDS1800.1	3317-3319	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTTAGCTTCTTCT	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	.	.	ENSP00000295373	.	18/24	.	.	.	.	.	.	.	.	rs770136975	18/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	deletion	DHX57,inframe_deletion,p.Glu430del,ENST00000452978,;DHX57,inframe_deletion,p.Glu1106del,ENST00000295373,;DHX57,upstream_gene_variant,,ENST00000442331,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;DHX57,upstream_gene_variant,,ENST00000497514,;	3444-3446	184	129	SUCCESS
C4orf40	0	.	GRCh37	4	71027333	71027333	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	147	130	386	0	ENST00000344526.5:c.*19C>A			ENST00000344526	NM_214711.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3535.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTACCATGGG	NONE	.	.	.	.	.	ENSP00000343172	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000344526	Transcript	.	.	ENSG00000187533	33193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD040_HUMAN	C4orf40	HGNC	.	.	UPI0000036170	SNV	C4orf40,3_prime_UTR_variant,,ENST00000344526,;C4orf40,3_prime_UTR_variant,,ENST00000502294,;C4orf40,downstream_gene_variant,,ENST00000502441,;C4orf40,3_prime_UTR_variant,,ENST00000512173,;C4orf40,3_prime_UTR_variant,,ENST00000509633,;	868	387	277	SUCCESS
PEG10	23089	.	GRCh37	7	94294941	94294941	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	7	47	0	ENST00000482108.1:c.*1095C>A			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55126.1	.	MUTECT|MUSE|VARSCANS	.	CACAGCCGCCG	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,3_prime_UTR_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	2552	47	70	SUCCESS
SPAG11B	10407	.	GRCh37	8	7308212	7308212	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A8HU-01	TCGA-CC-A8HU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	112	0	ENST00000297498.2:c.*189G>C			ENST00000297498	NM_016512.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47774.1	.	RADIA|MUTECT|VARSCANS	.	ACATCCCTGCC	NONE	.	.	.	.	.	ENSP00000381480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000398462	Transcript	.	.	ENSG00000164871	14534	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SPAG11B	HGNC	A8MZA0_HUMAN	.	UPI000021002B	SNV	SPAG11B,3_prime_UTR_variant,,ENST00000297498,;SPAG11B,3_prime_UTR_variant,,ENST00000458665,;SPAG11B,3_prime_UTR_variant,,ENST00000398462,;SPAG11B,3_prime_UTR_variant,,ENST00000528168,;SPAG11B,intron_variant,,ENST00000359758,;SPAG11B,intron_variant,,ENST00000528943,;SPAG11B,intron_variant,,ENST00000361111,;SPAG11B,intron_variant,,ENST00000528767,;	576	112	31	SUCCESS
CWF19L1	55280	.	GRCh37	10	101992888	101992888	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	20	0	ENST00000354105.4:c.*96C>T			ENST00000354105	NM_018294.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7489.1	.	MUTECT|MUSE	.	TGACAGAGCGA	NONE	.	.	.	.	.	ENSP00000326411	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000354105	Transcript	.	.	ENSG00000095485	25613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C19L1_HUMAN	CWF19L1	HGNC	D3DR67_HUMAN	.	UPI0000070B3E	SNV	CWF19L1,3_prime_UTR_variant,,ENST00000354105,;CWF19L1,downstream_gene_variant,,ENST00000370379,;CHUK,upstream_gene_variant,,ENST00000370397,;SNORA12,downstream_gene_variant,,ENST00000391162,;RP11-316M21.6,intron_variant,,ENST00000444359,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000468709,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000482452,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000478047,;	1800	20	10	SUCCESS
CCDC91	55297	.	GRCh37	12	28702280	28702280	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	53	0	ENST00000381259.1:c.*174C>G			ENST00000381259	NM_018318.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8716.1	.	MUTECT|MUSE	.	ATTTTCTTTTG	NONE	.	.	.	.	.	ENSP00000438040	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000545336	Transcript	.	.	ENSG00000123106	24855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD91_HUMAN	CCDC91	HGNC	F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN	.	UPI00001AEE23	SNV	CCDC91,3_prime_UTR_variant,,ENST00000381256,;CCDC91,3_prime_UTR_variant,,ENST00000545336,;CCDC91,3_prime_UTR_variant,,ENST00000306172,;CCDC91,3_prime_UTR_variant,,ENST00000539107,;CCDC91,3_prime_UTR_variant,,ENST00000381259,;CCDC91,intron_variant,,ENST00000541792,;CCDC91,intron_variant,,ENST00000542814,;CCDC91,intron_variant,,ENST00000542801,;CCDC91,intron_variant,,ENST00000543019,;CCDC91,downstream_gene_variant,,ENST00000540401,;CCDC91,intron_variant,,ENST00000539270,;CCDC91,downstream_gene_variant,,ENST00000535520,;CCDC91,downstream_gene_variant,,ENST00000543809,;	1919	53	40	SUCCESS
PRTG	283659	.	GRCh37	15	55912049	55912049	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	25	0	ENST00000389286.4:c.*161C>T			ENST00000389286	NM_173814.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42040.1	.	RADIA|MUTECT|MUSE	.	CCTGAGCATGG	NONE	.	.	.	.	.	ENSP00000373937	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000389286	Transcript	.	.	ENSG00000166450	26373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRTG_HUMAN	PRTG	HGNC	H0YKD6_HUMAN	.	UPI00001555A7	SNV	PRTG,3_prime_UTR_variant,,ENST00000389286,;	3662	25	10	SUCCESS
MC1R	4157	.	GRCh37	16	89986636	89986636	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs546300801	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	31	119	0	ENST00000555147.1:c.*16C>G			ENST00000555147	NM_002386.3			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS56011.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGCTTTAA	NONE	by1000G	.	.	T:0.001	.	ENSP00000451605	T:0	1/1	.	.	.	.	.	.	.	.	rs546300801	1/1	PASS	ENST00000555147	Transcript	.	T:0.0002	ENSG00000258839	6929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MSHR_HUMAN	MC1R	HGNC	Q1JUL4_HUMAN	.	UPI00000622C3	SNV	MC1R,3_prime_UTR_variant,,ENST00000555147,;MC1R,intron_variant,,ENST00000555427,;TUBB3,intron_variant,,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000315491,;TUBB3,upstream_gene_variant,,ENST00000556565,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000555576,;RP11-566K11.4,non_coding_transcript_exon_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000553656,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000554927,;TUBB3,upstream_gene_variant,,ENST00000557262,;AC092143.1,non_coding_transcript_exon_variant,,ENST00000540694,;	2350	119	54	SUCCESS
ITGA2B	3674	.	GRCh37	17	42449652	42449652	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	35	0	ENST00000262407.5:c.*80C>T			ENST00000262407	NM_000419.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32665.1	.	MUTECT|MUSE	.	CCAAAGCTTGG	NONE	.	.	.	.	.	ENSP00000262407	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000262407	Transcript	.	.	ENSG00000005961	6138	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITA2B_HUMAN	ITGA2B	HGNC	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN	.	UPI00001868B8	SNV	ITGA2B,3_prime_UTR_variant,,ENST00000353281,;ITGA2B,3_prime_UTR_variant,,ENST00000262407,;ITGA2B,3_prime_UTR_variant,,ENST00000588098,;ITGA2B,3_prime_UTR_variant,,ENST00000587295,;ITGA2B,downstream_gene_variant,,ENST00000592462,;	3232	35	29	SUCCESS
MRC2	9902	.	GRCh37	17	60769996	60769996	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	15	0	ENST00000303375.5:c.*184G>T			ENST00000303375	NM_006039.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11634.1	.	RADIA|MUTECT|MUSE	.	GCTGGGCTGAG	NONE	.	.	.	.	.	ENSP00000307513	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000303375	Transcript	.	.	ENSG00000011028	16875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MRC2_HUMAN	MRC2	HGNC	J3QQZ6_HUMAN	.	UPI000013E895	SNV	MRC2,3_prime_UTR_variant,,ENST00000446119,;MRC2,3_prime_UTR_variant,,ENST00000303375,;MRC2,downstream_gene_variant,,ENST00000580916,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;	5026	15	12	SUCCESS
SOCS6	9306	.	GRCh37	18	67997011	67997011	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	59	308	0	ENST00000397942.3:c.*3499G>C			ENST00000397942	NM_004232.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAAAGAAGGG	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,downstream_gene_variant,,ENST00000578377,;SOCS6,downstream_gene_variant,,ENST00000582322,;	5423	308	152	SUCCESS
RTBDN	83546	.	GRCh37	19	12936889	12936889	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	23	0	ENST00000393233.2:c.*255G>T			ENST00000393233	NM_001270440.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12283.1	.	MUTECT|MUSE	.	CGGAACGTGAG	NONE	.	.	.	.	.	ENSP00000326253	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322912	Transcript	.	.	ENSG00000132026	30310	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTBDN_HUMAN	RTBDN	HGNC	K7EN64_HUMAN,K7EKV3_HUMAN,K7EIS2_HUMAN	.	UPI000006D823	SNV	RTBDN,3_prime_UTR_variant,,ENST00000393233,;RTBDN,3_prime_UTR_variant,,ENST00000589272,;RTBDN,intron_variant,,ENST00000586969,;RTBDN,intron_variant,,ENST00000589681,;RTBDN,intron_variant,,ENST00000322912,;RTBDN,intron_variant,,ENST00000458671,;RTBDN,intron_variant,,ENST00000589808,;RTBDN,intron_variant,,ENST00000592204,;RTBDN,intron_variant,,ENST00000590404,;RTBDN,downstream_gene_variant,,ENST00000585384,;RTBDN,downstream_gene_variant,,ENST00000587549,;RTBDN,downstream_gene_variant,,ENST00000591512,;RTBDN,downstream_gene_variant,,ENST00000589567,;CTD-2265O21.3,intron_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;	.	23	23	SUCCESS
REEP6	92840	.	GRCh37	19	1497526	1497526	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1037698683	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	21	88	0	ENST00000233596.3:c.*316C>T			ENST00000233596	NM_138393.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12070.1	.	RADIA|MUTECT|MUSE	.	CCAGCCGCCTG	NONE	.	.	.	.	.	ENSP00000233596	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000233596	Transcript	.	.	ENSG00000115255	30078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	REEP6_HUMAN	REEP6	HGNC	.	.	UPI00000702E3	SNV	REEP6,3_prime_UTR_variant,,ENST00000233596,;REEP6,downstream_gene_variant,,ENST00000395479,;REEP6,intron_variant,,ENST00000395484,;REEP6,downstream_gene_variant,,ENST00000591735,;	975	88	58	SUCCESS
GPR88	54112	.	GRCh37	1	101006041	101006041	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs559423147	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	29	107	0	ENST00000315033.4:c.*364C>G			ENST00000315033	NM_022049.2			0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS772.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAACCCTTT	NONE	by1000G	.	.	G:0	.	ENSP00000314223	G:0	2/2	.	.	.	.	.	.	.	.	rs559423147	2/2	PASS	ENST00000315033	Transcript	.	G:0.0002	ENSG00000181656	4539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	GPR88_HUMAN	GPR88	HGNC	.	.	UPI00001403B3	SNV	GPR88,3_prime_UTR_variant,,ENST00000315033,;	1958	107	77	SUCCESS
PRRX1	5396	.	GRCh37	1	170705412	170705412	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	142	14	111	0	ENST00000239461.6:c.*85G>T			ENST00000239461	NM_022716.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1290.1	.	MUTECT|MUSE	.	GCTGGGGGGAA	NONE	.	.	.	.	.	ENSP00000239461	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000239461	Transcript	.	.	ENSG00000116132	9142	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRRX1_HUMAN	PRRX1	HGNC	.	.	UPI0000131D11	SNV	PRRX1,3_prime_UTR_variant,,ENST00000239461,;PRRX1,3_prime_UTR_variant,,ENST00000367760,;PRRX1,non_coding_transcript_exon_variant,,ENST00000476867,;PRRX1,downstream_gene_variant,,ENST00000485529,;PRRX1,downstream_gene_variant,,ENST00000496573,;PRRX1,downstream_gene_variant,,ENST00000495280,;	1136	111	156	SUCCESS
DGCR6	8214	.	GRCh37	22	18899462	18899462	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs916110710	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	15	0	ENST00000331444.6:c.*260C>T			ENST00000331444	NM_005675.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13753.1	.	RADIA|MUTECT|MUSE	.	CATCCCAACCT	NONE	.	.	.	.	.	ENSP00000331681	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331444	Transcript	.	.	ENSG00000183628	2846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGCR6_HUMAN	DGCR6	HGNC	Q6FGH4_HUMAN	.	UPI000000DBA4	SNV	DGCR6,3_prime_UTR_variant,,ENST00000331444,;DGCR6,3_prime_UTR_variant,,ENST00000413981,;PRODH,downstream_gene_variant,,ENST00000334029,;DGCR6,downstream_gene_variant,,ENST00000608842,;PRODH,downstream_gene_variant,,ENST00000420436,;PRODH,downstream_gene_variant,,ENST00000357068,;DGCR6,non_coding_transcript_exon_variant,,ENST00000436645,;DGCR6,3_prime_UTR_variant,,ENST00000483718,;DGCR6,3_prime_UTR_variant,,ENST00000427407,;DGCR6,3_prime_UTR_variant,,ENST00000480608,;PRODH,downstream_gene_variant,,ENST00000313755,;PRODH,downstream_gene_variant,,ENST00000482858,;PRODH,downstream_gene_variant,,ENST00000609229,;DGCR6,downstream_gene_variant,,ENST00000477156,;PRODH,downstream_gene_variant,,ENST00000491604,;PRODH,downstream_gene_variant,,ENST00000429300,;	1075	15	10	SUCCESS
H1F0	0	.	GRCh37	22	38202749	38202749	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1198329410	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	36	76	0	ENST00000340857.2:c.*613A>G			ENST00000340857	NM_005318.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13956.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTATTTTC	NONE	.	.	.	.	.	ENSP00000344504	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340857	Transcript	.	.	ENSG00000189060	4714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H10_HUMAN	H1F0	HGNC	.	.	UPI0000161F7B	SNV	H1F0,3_prime_UTR_variant,,ENST00000340857,;GCAT,upstream_gene_variant,,ENST00000451984,;GCAT,upstream_gene_variant,,ENST00000445195,;GCAT,upstream_gene_variant,,ENST00000248924,;GCAT,upstream_gene_variant,,ENST00000323205,;GCAT,upstream_gene_variant,,ENST00000415371,;GCAT,upstream_gene_variant,,ENST00000426858,;GCAT,upstream_gene_variant,,ENST00000478203,;	1636	76	53	SUCCESS
FKBP7	51661	.	GRCh37	2	179330395	179330395	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	16	0	ENST00000424785.2:c.*102A>G			ENST00000424785	NM_001135212.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2280.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTCATAG	NONE	.	.	.	.	.	ENSP00000413152	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000424785	Transcript	.	.	ENSG00000079150	3723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKBP7_HUMAN	FKBP7	HGNC	.	.	UPI000002A9BC	SNV	FKBP7,3_prime_UTR_variant,,ENST00000424785,;DFNB59,downstream_gene_variant,,ENST00000442710,;FKBP7,downstream_gene_variant,,ENST00000434643,;DFNB59,downstream_gene_variant,,ENST00000375129,;DFNB59,downstream_gene_variant,,ENST00000409117,;FKBP7,non_coding_transcript_exon_variant,,ENST00000464248,;FKBP7,downstream_gene_variant,,ENST00000470945,;FKBP7,3_prime_UTR_variant,,ENST00000233092,;FKBP7,downstream_gene_variant,,ENST00000412612,;FKBP7,downstream_gene_variant,,ENST00000419184,;DFNB59,downstream_gene_variant,,ENST00000437056,;FKBP7,downstream_gene_variant,,ENST00000435079,;	830	16	21	SUCCESS
TF	7018	.	GRCh37	3	133497483	133497483	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	27	89	0	ENST00000402696.3:c.*19G>A			ENST00000402696	NM_001063.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3080.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGCCACC	NONE	.	.	.	.	.	ENSP00000385834	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000402696	Transcript	.	.	ENSG00000091513	11740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRFE_HUMAN	TF	HGNC	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN	.	UPI000013D5A6	SNV	TF,3_prime_UTR_variant,,ENST00000402696,;TF,3_prime_UTR_variant,,ENST00000264998,;TF,3_prime_UTR_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;	2601	89	85	SUCCESS
DNAH8	1769	.	GRCh37	6	38690665	38690665	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs760061997	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	23	58	0				ENST00000359357				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGTTCAG	NONE	.	233	.	.	.	ENSP00000352312	.	.	.	.	.	.	.	.	.	.	rs760061997	.	PASS	ENST00000359357	Transcript	.	.	ENSG00000124721	2952	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYH8_HUMAN	DNAH8	HGNC	.	.	UPI00003677EB	SNV	DNAH8,missense_variant,p.Arg15His,ENST00000327475,;DNAH8,missense_variant,p.Arg27His,ENST00000373278,;DNAH8,missense_variant,p.Arg27His,ENST00000449981,;DNAH8,upstream_gene_variant,,ENST00000359357,;	.	58	41	SUCCESS
MEOX2	4223	.	GRCh37	7	15651953	15651953	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1046039061	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	13	30	0	ENST00000262041.5:c.*59C>A			ENST00000262041	NM_005924.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34605.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGGGTAAG	NONE	.	.	.	.	.	ENSP00000262041	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000262041	Transcript	.	.	ENSG00000106511	7014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEOX2_HUMAN	MEOX2	HGNC	Q6FHY5_HUMAN,A4D127_HUMAN	.	UPI000013D247	SNV	MEOX2,3_prime_UTR_variant,,ENST00000262041,;	1384	30	28	SUCCESS
FZD1	8321	.	GRCh37	7	90896715	90896715	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	27	70	0	ENST00000287934.2:c.*576G>T			ENST00000287934	NM_003505.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5620.1	.	RADIA|MUTECT|MUSE	.	CTTTTGCCCCC	NONE	.	.	.	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,3_prime_UTR_variant,,ENST00000287934,;	2933	70	67	SUCCESS
FZD1	8321	.	GRCh37	7	90896718	90896718	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	28	69	0	ENST00000287934.2:c.*579C>T			ENST00000287934	NM_003505.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5620.1	.	RADIA|MUTECT|MUSE	.	TTGCCCCCTCC	NONE	.	.	.	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,3_prime_UTR_variant,,ENST00000287934,;	2936	69	70	SUCCESS
BAI1	0	.	GRCh37	8	143625812	143625812	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	57	0	ENST00000323289.5:c.*34A>T			ENST00000323289	NM_001702.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS64985.1	.	MUTECT|MUSE	.	CACGGAGGAGG	NONE	.	.	.	.	.	ENSP00000430945	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000517894	Transcript	.	.	ENSG00000181790	943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAI1_HUMAN	BAI1	HGNC	.	.	UPI00002109E8	SNV	BAI1,3_prime_UTR_variant,,ENST00000323289,;BAI1,3_prime_UTR_variant,,ENST00000517894,;BAI1,3_prime_UTR_variant,,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518812,;BAI1,downstream_gene_variant,,ENST00000518820,;	5683	57	34	SUCCESS
ATRX	546	.	GRCh37	X	76763760	76763760	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A8HV-01	TCGA-CC-A8HV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	7	52	0	ENST00000373344.5:c.*69A>T			ENST00000373344	NM_000489.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14434.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGTCATTG	NONE	.	.	.	.	.	ENSP00000362441	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000373344	Transcript	.	.	ENSG00000085224	886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATRX_HUMAN	ATRX	HGNC	B4DLE1_HUMAN	.	UPI0000161F78	SNV	ATRX,3_prime_UTR_variant,,ENST00000395603,;ATRX,3_prime_UTR_variant,,ENST00000373344,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;	7763	52	45	SUCCESS
AGAP5	729092	.	GRCh37	10	75434051	75434051	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1450764166	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	16	0	ENST00000374094.4:c.*306A>G			ENST00000374094	NM_001144000.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44439.1	.	MUTECT|MUSE	.	ATGCATATTTA	NONE	.	.	.	.	.	ENSP00000363207	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000374094	Transcript	.	.	ENSG00000172650	23467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AGAP5_HUMAN	AGAP5	HGNC	.	.	UPI000049DCFD	SNV	AGAP5,3_prime_UTR_variant,,ENST00000443782,;AGAP5,3_prime_UTR_variant,,ENST00000374094,;RP11-464F9.21,intron_variant,,ENST00000607450,;RP11-464F9.1,downstream_gene_variant,,ENST00000399449,;AGAP5,downstream_gene_variant,,ENST00000607663,;	2408	16	23	SUCCESS
PTPRR	5801	.	GRCh37	12	71032919	71032919	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	18	0	ENST00000283228.2:c.*45T>A			ENST00000283228	NM_002849.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8998.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	ATTTGATTAAT	NONE	.	.	.	.	.	ENSP00000283228	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000283228	Transcript	.	.	ENSG00000153233	9680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTPRR_HUMAN	PTPRR	HGNC	Q68CP6_HUMAN,F8VVE9_HUMAN	.	UPI000013DD2F	SNV	PTPRR,3_prime_UTR_variant,,ENST00000342084,;PTPRR,3_prime_UTR_variant,,ENST00000440835,;PTPRR,3_prime_UTR_variant,,ENST00000378778,;PTPRR,3_prime_UTR_variant,,ENST00000283228,;PTPRR,3_prime_UTR_variant,,ENST00000549308,;PTPRB,upstream_gene_variant,,ENST00000334414,;PTPRB,upstream_gene_variant,,ENST00000550358,;PTPRB,upstream_gene_variant,,ENST00000551525,;PTPRB,upstream_gene_variant,,ENST00000548122,;PTPRR,non_coding_transcript_exon_variant,,ENST00000549107,;PTPRR,non_coding_transcript_exon_variant,,ENST00000537619,;PTPRR,non_coding_transcript_exon_variant,,ENST00000547752,;PTPRB,upstream_gene_variant,,ENST00000538174,;PTPRR,3_prime_UTR_variant,,ENST00000551219,;PTPRB,upstream_gene_variant,,ENST00000552253,;	2472	18	35	SUCCESS
IGF1R	3480	.	GRCh37	15	99500725	99500725	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	14	43	0	ENST00000268035.6:c.*54T>A			ENST00000268035	NM_000875.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10378.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGTGGGGG	NONE	.	.	.	.	.	ENSP00000268035	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,3_prime_UTR_variant,,ENST00000558762,;IGF1R,3_prime_UTR_variant,,ENST00000268035,;RP11-654A16.3,intron_variant,,ENST00000559468,;IGF1R,downstream_gene_variant,,ENST00000558751,;	4769	43	46	SUCCESS
SLC17A7	57030	.	GRCh37	19	49933722	49933722	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	31	0	ENST00000221485.3:c.*54T>C			ENST00000221485	NM_020309.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12764.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGAGAT	NONE	.	.	.	.	.	ENSP00000221485	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000221485	Transcript	.	.	ENSG00000104888	16704	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU1_HUMAN	SLC17A7	HGNC	B4DFR9_HUMAN,A8K0Q7_HUMAN	.	UPI000006F6B8	SNV	SLC17A7,3_prime_UTR_variant,,ENST00000543531,;SLC17A7,3_prime_UTR_variant,,ENST00000221485,;SLC17A7,3_prime_UTR_variant,,ENST00000600601,;GFY,downstream_gene_variant,,ENST00000576655,;SLC17A7,downstream_gene_variant,,ENST00000598018,;SLC17A7,downstream_gene_variant,,ENST00000600672,;SLC17A7,downstream_gene_variant,,ENST00000596689,;	1909	31	37	SUCCESS
VWA1	64856	.	GRCh37	1	1375778	1375778	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	36	89	0	ENST00000476993.1:c.*611G>A			ENST00000476993	NM_022834.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS27.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGGCAGA	NONE	.	.	.	.	.	ENSP00000417185	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000476993	Transcript	.	.	ENSG00000179403	30910	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA1_HUMAN	VWA1	HGNC	J3QLP3_HUMAN	.	UPI00001D9616	SNV	VWA1,3_prime_UTR_variant,,ENST00000338660,;VWA1,3_prime_UTR_variant,,ENST00000476993,;VWA1,3_prime_UTR_variant,,ENST00000404702,;VWA1,downstream_gene_variant,,ENST00000495558,;VWA1,downstream_gene_variant,,ENST00000471398,;	2027	89	62	SUCCESS
SLC30A10	55532	.	GRCh37	1	220088776	220088777	+	3_prime_UTR_variant	3'UTR	DEL	TA	TA	-	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	110	12	126	0	ENST00000366926.3:c.*14_*15del			ENST00000366926	NM_018713.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31026.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTGATTATGTGA	NONE	.	.	.	.	.	ENSP00000355893	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366926	Transcript	.	.	ENSG00000196660	25355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNT10_HUMAN	SLC30A10	HGNC	B3KR19_HUMAN	.	UPI000040E993	deletion	SLC30A10,3_prime_UTR_variant,,ENST00000366926,;SLC30A10,downstream_gene_variant,,ENST00000536446,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	1634-1635	126	122	SUCCESS
ZP4	57829	.	GRCh37	1	238045719	238045719	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	6	108	0	ENST00000366570.4:c.*3C>A			ENST00000366570	NM_021186.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1615.1	.	MUTECT|MUSE|VARSCANS	.	CTCTGGTTTTA	NONE	.	.	.	.	.	ENSP00000355529	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000366570	Transcript	.	.	ENSG00000116996	15770	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZP4_HUMAN	ZP4	HGNC	.	.	UPI000006F0E4	SNV	ZP4,3_prime_UTR_variant,,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	1785	108	72	SUCCESS
MFSD9	84804	.	GRCh37	2	103353392	103353392	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	53	0				ENST00000258436	NM_032718.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2063.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGGCAGCT	NONE	.	79	.	.	.	ENSP00000258436	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000258436	Transcript	.	.	ENSG00000135953	28158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFSD9_HUMAN	MFSD9	HGNC	B4DKY6_HUMAN	.	UPI0000070215	SNV	TMEM182,5_prime_UTR_variant,,ENST00000409528,;TMEM182,5_prime_UTR_variant,,ENST00000409173,;TMEM182,5_prime_UTR_variant,,ENST00000454536,;MFSD9,upstream_gene_variant,,ENST00000258436,;TMEM182,non_coding_transcript_exon_variant,,ENST00000469971,;TMEM182,upstream_gene_variant,,ENST00000488134,;MFSD9,upstream_gene_variant,,ENST00000438943,;MFSD9,upstream_gene_variant,,ENST00000421966,;MFSD9,upstream_gene_variant,,ENST00000428085,;MFSD9,upstream_gene_variant,,ENST00000411991,;MFSD9,upstream_gene_variant,,ENST00000437075,;MFSD9,upstream_gene_variant,,ENST00000462099,;	.	53	42	SUCCESS
DNER	92737	.	GRCh37	2	230223131	230223131	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	97	0	ENST00000341772.4:c.*125A>C			ENST00000341772	NM_139072.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33390.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGTTCTTAA	NONE	.	.	.	.	.	ENSP00000345229	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000341772	Transcript	.	.	ENSG00000187957	24456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNER_HUMAN	DNER	HGNC	B4E399_HUMAN	.	UPI0000048EB8	SNV	DNER,3_prime_UTR_variant,,ENST00000341772,;	2474	97	81	SUCCESS
SOCS5	9655	.	GRCh37	2	46988681	46988681	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	66	0	ENST00000306503.5:c.*1401T>G			ENST00000306503	NM_014011.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1830.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTATGTTTC	NONE	.	.	.	.	.	ENSP00000305133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306503	Transcript	.	.	ENSG00000171150	16852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS5_HUMAN	SOCS5	HGNC	B4DL10_HUMAN	.	UPI0000135B69	SNV	SOCS5,3_prime_UTR_variant,,ENST00000394861,;SOCS5,3_prime_UTR_variant,,ENST00000306503,;	3184	66	65	SUCCESS
SOCS5	9655	.	GRCh37	2	46988713	46988713	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	23	62	0	ENST00000306503.5:c.*1439del			ENST00000306503	NM_014011.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1830.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCTGCTTTTTT	NONE	.	.	.	.	.	ENSP00000305133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306503	Transcript	.	.	ENSG00000171150	16852	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOCS5_HUMAN	SOCS5	HGNC	B4DL10_HUMAN	.	UPI0000135B69	deletion	SOCS5,3_prime_UTR_variant,,ENST00000394861,;SOCS5,3_prime_UTR_variant,,ENST00000306503,;	3216	62	77	SUCCESS
VPRBP	0	.	GRCh37	3	51430282	51430282	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	54	0				ENST00000423656		484		0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS33764.1	1452	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCAGGCTCCG	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR23189:SF40,hmmpanther:PTHR23189,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000313890	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323686	Transcript	.	.	ENSG00000179837	24303	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.689)	.	deleterious(0)	.	RB15B_HUMAN	RBM15B	HGNC	.	.	UPI0000160BDE	SNV	RBM15B,missense_variant,p.Arg484Ser,ENST00000323686,;MANF,downstream_gene_variant,,ENST00000528157,;VPRBP,downstream_gene_variant,,ENST00000423656,;VPRBP,downstream_gene_variant,,ENST00000335891,;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;	1552	54	43	SUCCESS
ELOVL7	79993	.	GRCh37	5	60050359	60050359	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	23	43	0	ENST00000425382.1:c.*92C>A			ENST00000425382	NM_001104558.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34164.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTGAAAAA	NONE	.	.	.	.	.	ENSP00000424123	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000508821	Transcript	.	.	ENSG00000164181	26292	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOV7_HUMAN	ELOVL7	HGNC	D6RBM2_HUMAN	.	UPI000004CAF4	SNV	ELOVL7,3_prime_UTR_variant,,ENST00000505959,;ELOVL7,3_prime_UTR_variant,,ENST00000425382,;ELOVL7,3_prime_UTR_variant,,ENST00000508821,;ELOVL7,3_prime_UTR_variant,,ENST00000438340,;ELOVL7,3_prime_UTR_variant,,ENST00000504455,;	1253	43	48	SUCCESS
HIST1H2AI	0	.	GRCh37	6	27777979	27777979	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	45	129	0				ENST00000358739	NM_003509.2	43		0	.	.	.	.	.	A	R/Q	protein_coding	YES	CCDS4627.1	128	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATCGGCCTG	NONE	.	.	hmmpanther:PTHR11426,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000358160	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000369163	Transcript	.	.	ENSG00000203813	4775	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.151)	.	deleterious_low_confidence(0)	.	H31_HUMAN	HIST1H3H	HGNC	.	.	UPI00000003C7	SNV	HIST1H3H,missense_variant,p.Arg43Gln,ENST00000369163,;HIST1H2BL,upstream_gene_variant,,ENST00000377401,;HIST1H2AJ,downstream_gene_variant,,ENST00000333151,;HIST1H2AI,downstream_gene_variant,,ENST00000358739,;HIST1H2BM,upstream_gene_variant,,ENST00000359465,;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	138	129	111	SUCCESS
C6orf136	221545	.	GRCh37	6	30620860	30620869	+	3_prime_UTR_variant	3'UTR	DEL	AAGTTTAACT	AAGTTTAACT	-	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	AAGTTTAACT	AAGTTTAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	34	0	ENST00000376473.5:c.*168_*177del			ENST00000376473	NM_001109938.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS54979.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAATAAAGTTTAACTGACTA	NONE	.	.	.	.	.	ENSP00000293604	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000293604	Transcript	.	.	ENSG00000204564	21301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CF136_HUMAN	C6orf136	HGNC	Q0P5T2_HUMAN,H7C5B5_HUMAN,H7C4Z6_HUMAN	.	UPI0001A51C32	deletion	C6orf136,3_prime_UTR_variant,,ENST00000467801,;C6orf136,3_prime_UTR_variant,,ENST00000528347,;C6orf136,3_prime_UTR_variant,,ENST00000376473,;C6orf136,3_prime_UTR_variant,,ENST00000465699,;C6orf136,3_prime_UTR_variant,,ENST00000293604,;C6orf136,3_prime_UTR_variant,,ENST00000446773,;C6orf136,3_prime_UTR_variant,,ENST00000468785,;C6orf136,downstream_gene_variant,,ENST00000376471,;DHX16,downstream_gene_variant,,ENST00000376437,;DHX16,downstream_gene_variant,,ENST00000376442,;AL662800.2,downstream_gene_variant,,ENST00000583820,;C6orf136,downstream_gene_variant,,ENST00000493705,;C6orf136,3_prime_UTR_variant,,ENST00000488383,;C6orf136,downstream_gene_variant,,ENST00000463794,;C6orf136,downstream_gene_variant,,ENST00000460172,;C6orf136,downstream_gene_variant,,ENST00000484551,;C6orf136,downstream_gene_variant,,ENST00000487873,;	1852-1861	34	29	SUCCESS
C2	717	.	GRCh37	6	31915209	31915209	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	81	0				ENST00000299367	NM_000063.4	190		0	.	.	.	.	.	C	H/P	protein_coding	YES	.	2075	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCACTGCA	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000410815	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.465)	.	tolerated(0.09)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.His692Pro,ENST00000456570,;CFB,missense_variant,p.His541Pro,ENST00000477310,;CFB,missense_variant,p.His692Pro,ENST00000556679,;CFB,missense_variant,p.His190Pro,ENST00000425368,;NELFE,downstream_gene_variant,,ENST00000375425,;C2,downstream_gene_variant,,ENST00000299367,;CFB,upstream_gene_variant,,ENST00000483004,;C2,downstream_gene_variant,,ENST00000469372,;CFB,upstream_gene_variant,,ENST00000498317,;C2,downstream_gene_variant,,ENST00000442278,;NELFE,downstream_gene_variant,,ENST00000444811,;NELFE,downstream_gene_variant,,ENST00000375429,;C2,downstream_gene_variant,,ENST00000497706,;C2,downstream_gene_variant,,ENST00000452323,;C2,downstream_gene_variant,,ENST00000383177,;CFB,downstream_gene_variant,,ENST00000475617,;C2,downstream_gene_variant,,ENST00000468407,;CFB,upstream_gene_variant,,ENST00000497841,;CFB,3_prime_UTR_variant,,ENST00000460718,;CFB,non_coding_transcript_exon_variant,,ENST00000452035,;CFB,non_coding_transcript_exon_variant,,ENST00000461483,;CFB,downstream_gene_variant,,ENST00000472581,;NELFE,downstream_gene_variant,,ENST00000488426,;CFB,upstream_gene_variant,,ENST00000467360,;NELFE,downstream_gene_variant,,ENST00000481121,;C2,downstream_gene_variant,,ENST00000485690,;C2,downstream_gene_variant,,ENST00000486124,;CFB,upstream_gene_variant,,ENST00000465750,;CFB,upstream_gene_variant,,ENST00000482312,;CFB,upstream_gene_variant,,ENST00000482886,;C2,downstream_gene_variant,,ENST00000482060,;NELFE,downstream_gene_variant,,ENST00000492185,;CFB,upstream_gene_variant,,ENST00000467150,;	2130	81	73	SUCCESS
VGF	7425	.	GRCh37	7	100806275	100806275	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	21	0	ENST00000249330.2:c.*2T>A			ENST00000249330	NM_003378.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5712.1	.	MUTECT|MUSE	.	AGGGCAGTCAC	NONE	.	.	.	.	.	ENSP00000249330	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249330	Transcript	.	.	ENSG00000128564	12684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VGF_HUMAN	VGF	HGNC	.	.	UPI000006FC7B	SNV	VGF,3_prime_UTR_variant,,ENST00000445482,;VGF,3_prime_UTR_variant,,ENST00000249330,;AP1S1,downstream_gene_variant,,ENST00000337619,;AP1S1,downstream_gene_variant,,ENST00000429457,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000443943,;	2090	21	26	SUCCESS
CCDC146	57639	.	GRCh37	7	76924240	76924240	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	27	0	ENST00000285871.4:c.*57C>T			ENST00000285871	NM_020879.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34671.1	.	MUTECT|MUSE|VARSCANS	.	TTGTACCCACA	NONE	.	.	.	.	.	ENSP00000285871	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000285871	Transcript	.	.	ENSG00000135205	29296	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC146_HUMAN	CCDC146	HGNC	Q7Z4Q3_HUMAN	.	UPI000020F44F	SNV	CCDC146,3_prime_UTR_variant,,ENST00000285871,;CCDC146,3_prime_UTR_variant,,ENST00000431197,;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,non_coding_transcript_exon_variant,,ENST00000488998,;CCDC146,non_coding_transcript_exon_variant,,ENST00000461259,;CCDC146,downstream_gene_variant,,ENST00000478101,;CCDC146,downstream_gene_variant,,ENST00000474733,;	3052	27	24	SUCCESS
NSMCE2	286053	.	GRCh37	8	126379208	126379208	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	180	19	103	0	ENST00000287437.3:c.*81G>C			ENST00000287437	NM_173685.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6356.1	.	MUTECT|MUSE	.	CAGCAGTTAGG	NONE	.	.	.	.	.	ENSP00000287437	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000287437	Transcript	.	.	ENSG00000156831	26513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NSE2_HUMAN	NSMCE2	HGNC	E5RK09_HUMAN,E5RIM1_HUMAN,E5RHW9_HUMAN,E5RFJ1_HUMAN	.	UPI0000039EC8	SNV	NSMCE2,3_prime_UTR_variant,,ENST00000287437,;NSMCE2,3_prime_UTR_variant,,ENST00000522563,;NSMCE2,3_prime_UTR_variant,,ENST00000517315,;NSMCE2,non_coding_transcript_exon_variant,,ENST00000521460,;	1041	103	199	SUCCESS
TCEB1	0	.	GRCh37	8	74858761	74858761	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	37	60	1	ENST00000518127.1:c.*104C>A			ENST00000518127	NM_001204857.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34910.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATAGTTCAA	NONE	.	.	.	.	.	ENSP00000428334	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000518127	Transcript	.	.	ENSG00000154582	11617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELOC_HUMAN	TCEB1	HGNC	E5RHG8_HUMAN	.	UPI000002921A	SNV	TCEB1,3_prime_UTR_variant,,ENST00000522337,;TCEB1,3_prime_UTR_variant,,ENST00000520210,;TCEB1,3_prime_UTR_variant,,ENST00000284811,;TCEB1,3_prime_UTR_variant,,ENST00000520242,;TCEB1,3_prime_UTR_variant,,ENST00000518127,;TCEB1,3_prime_UTR_variant,,ENST00000519487,;TCEB1,intron_variant,,ENST00000602840,;TCEB1,downstream_gene_variant,,ENST00000519082,;TCEB1,downstream_gene_variant,,ENST00000523815,;	536	61	125	SUCCESS
TRAF1	7185	.	GRCh37	9	123667194	123667194	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	30	0	ENST00000373887.3:c.*104G>A			ENST00000373887	NM_005658.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6825.1	.	MUTECT|MUSE	.	GCCTTCACCCA	NONE	.	.	.	.	.	ENSP00000362994	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000373887	Transcript	.	.	ENSG00000056558	12031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRAF1_HUMAN	TRAF1	HGNC	.	.	UPI0000001079	SNV	TRAF1,3_prime_UTR_variant,,ENST00000546084,;TRAF1,3_prime_UTR_variant,,ENST00000540010,;TRAF1,3_prime_UTR_variant,,ENST00000373887,;	3801	30	25	SUCCESS
AGTR2	186	.	GRCh37	X	115306012	115306012	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs928062048	.	TCGA-CC-A9FS-01	TCGA-CC-A9FS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	319	209	1	ENST00000371906.4:c.*1387C>A			ENST00000371906	NM_000686.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14569.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGCGGAAC	NONE	.	.	.	.	.	ENSP00000360973	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371906	Transcript	.	.	ENSG00000180772	338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AGTR2_HUMAN	AGTR2	HGNC	Q6UVH2_HUMAN	.	UPI0000125687	SNV	AGTR2,3_prime_UTR_variant,,ENST00000371906,;	2669	210	359	SUCCESS
ZNF28	7576	.	GRCh37	19	53302147	53302147	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	35	0	ENST00000457749.2:c.*794C>G			ENST00000457749	NM_006969.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33093.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGTGACT	NONE	.	.	.	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,3_prime_UTR_variant,,ENST00000360272,;ZNF28,3_prime_UTR_variant,,ENST00000457749,;ZNF28,3_prime_UTR_variant,,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000414252,;	3071	35	64	SUCCESS
KPRP	448834	.	GRCh37	1	152733981	152733981	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	62	97	0	ENST00000606109.1:c.*177A>T			ENST00000606109				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30862.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGATGCCT	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,3_prime_UTR_variant,,ENST00000368773,;KPRP,3_prime_UTR_variant,,ENST00000606109,;	1975	97	201	SUCCESS
C2orf72	257407	.	GRCh37	2	231911883	231911883	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	13	24	0	ENST00000373640.4:c.*147G>A			ENST00000373640	NM_001144994.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46539.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGGCTTAC	NONE	.	.	.	.	.	ENSP00000362743	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373640	Transcript	.	.	ENSG00000204128	27418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB072_HUMAN	C2orf72	HGNC	.	.	UPI00004190AD	SNV	C2orf72,3_prime_UTR_variant,,ENST00000373640,;RP11-223I10.1,upstream_gene_variant,,ENST00000568958,;C2orf72,non_coding_transcript_exon_variant,,ENST00000477463,;C2orf72,non_coding_transcript_exon_variant,,ENST00000463834,;	1111	24	22	SUCCESS
CXXC5	51523	.	GRCh37	5	139062643	139062643	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs532322181	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	15	0	ENST00000302517.3:c.*151T>A			ENST00000302517	NM_016463.7			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43370.1	.	MUTECT|MUSE	.	TATATTTTTTG	NONE	.	.	.	.	.	ENSP00000302543	.	3/3	.	.	.	.	.	.	.	.	rs532322181	3/3	PASS	ENST00000302517	Transcript	.	.	ENSG00000171604	26943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXXC5_HUMAN	CXXC5	HGNC	E7EVI8_HUMAN,E7EV55_HUMAN,D6RIR8_HUMAN,D6RHG9_HUMAN,D6RHC6_HUMAN,D6RDY2_HUMAN,D6RCN9_HUMAN,D6RBE0_HUMAN,D6R9V1_HUMAN,D6R966_HUMAN	.	UPI000003779E	SNV	CXXC5,3_prime_UTR_variant,,ENST00000302517,;CXXC5,3_prime_UTR_variant,,ENST00000511048,;CXXC5,downstream_gene_variant,,ENST00000511457,;CXXC5,downstream_gene_variant,,ENST00000512816,;CXXC5,downstream_gene_variant,,ENST00000509238,;CXXC5,downstream_gene_variant,,ENST00000503511,;CXXC5,downstream_gene_variant,,ENST00000504844,;CXXC5,downstream_gene_variant,,ENST00000504944,;CXXC5,downstream_gene_variant,,ENST00000507139,;CXXC5,downstream_gene_variant,,ENST00000511591,;CXXC5,downstream_gene_variant,,ENST00000502295,;CXXC5,downstream_gene_variant,,ENST00000502336,;CXXC5,downstream_gene_variant,,ENST00000520967,;CXXC5,downstream_gene_variant,,ENST00000502716,;CTB-35F21.1,upstream_gene_variant,,ENST00000515296,;CXXC5,non_coding_transcript_exon_variant,,ENST00000505812,;CXXC5,non_coding_transcript_exon_variant,,ENST00000515038,;	1834	15	13	SUCCESS
LARS	0	.	GRCh37	5	145493593	145493593	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	36	0	ENST00000394434.2:c.*76A>T			ENST00000394434	NM_020117.9			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34265.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCTGATAG	NONE	.	.	.	.	.	ENSP00000377954	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000394434	Transcript	1	.	ENSG00000133706	6512	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYLC_HUMAN	LARS	HGNC	Q9NVC0_HUMAN,Q9NPU8_HUMAN,Q9HAM7_HUMAN,Q2TU79_HUMAN,B4DJ10_HUMAN,B3KXA9_HUMAN	.	UPI0000037316	SNV	LARS,3_prime_UTR_variant,,ENST00000394434,;LARS,3_prime_UTR_variant,,ENST00000545646,;LARS,3_prime_UTR_variant,,ENST00000274562,;LARS,3_prime_UTR_variant,,ENST00000510191,;RP11-118M9.3,intron_variant,,ENST00000514002,;LARS,non_coding_transcript_exon_variant,,ENST00000506231,;	3774	36	36	SUCCESS
B4GALT1	2683	.	GRCh37	9	33113418	33113418	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1323938144	.	TCGA-CC-A9FU-01	TCGA-CC-A9FU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	18	75	0	ENST00000379731.4:c.*34G>T			ENST00000379731	NM_001497.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6535.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCTAATT	NONE	.	.	.	.	.	ENSP00000369055	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000379731	Transcript	.	.	ENSG00000086062	924	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B4GT1_HUMAN	B4GALT1	HGNC	B7ZAH9_HUMAN,B4DMM8_HUMAN	.	UPI000002D22E	SNV	B4GALT1,3_prime_UTR_variant,,ENST00000541851,;B4GALT1,3_prime_UTR_variant,,ENST00000379731,;B4GALT1,intron_variant,,ENST00000535206,;	1418	75	22	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	22	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	22	18	SUCCESS
TAF3	83860	.	GRCh37	10	8056715	8056715	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	7	170	0	ENST00000344293.5:c.*1C>T			ENST00000344293	NM_031923.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41487.1	.	MUTECT|MUSE	.	ACTGACGACTC	NONE	.	.	.	.	.	ENSP00000340271	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000344293	Transcript	.	.	ENSG00000165632	17303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TAF3_HUMAN	TAF3	HGNC	.	.	UPI00004588FA	SNV	TAF3,3_prime_UTR_variant,,ENST00000344293,;	2997	170	173	SUCCESS
SPPL3	121665	.	GRCh37	12	121202762	121202762	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	27	0	ENST00000353487.2:c.*40T>C			ENST00000353487	NM_139015.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9208.1	.	MUTECT|MUSE	.	AGAAAAGGACT	NONE	.	.	.	.	.	ENSP00000288680	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000353487	Transcript	.	.	ENSG00000157837	30424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPPL3_HUMAN	SPPL3	HGNC	F5H7J2_HUMAN,F5H6I1_HUMAN,F5H4Y6_HUMAN,F5H4L1_HUMAN,F5H2A2_HUMAN	.	UPI0000013590	SNV	SPPL3,3_prime_UTR_variant,,ENST00000353487,;SPPL3,downstream_gene_variant,,ENST00000543608,;SPPL3,downstream_gene_variant,,ENST00000536996,;SPPL3,downstream_gene_variant,,ENST00000543854,;RP11-173P15.7,upstream_gene_variant,,ENST00000542620,;SPPL3,non_coding_transcript_exon_variant,,ENST00000545209,;SPPL3,non_coding_transcript_exon_variant,,ENST00000392495,;	1699	27	55	SUCCESS
PIGM	93183	.	GRCh37	1	160000243	160000243	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	18	65	0	ENST00000368090.2:c.*15C>G			ENST00000368090	NM_145167.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1192.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGGGTGTG	NONE	.	.	.	.	.	ENSP00000357069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368090	Transcript	.	.	ENSG00000143315	18858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGM_HUMAN	PIGM	HGNC	.	.	UPI000006D9D7	SNV	PIGM,3_prime_UTR_variant,,ENST00000368090,;RP11-226L15.5,upstream_gene_variant,,ENST00000562313,;	1541	65	102	SUCCESS
NR1I3	9970	.	GRCh37	1	161207972	161207972	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	21	0				ENST00000367982				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41429.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGTATCTGG	NONE	.	.	.	.	.	ENSP00000356959	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000367980	Transcript	.	.	ENSG00000143257	7969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR1I3_HUMAN	NR1I3	HGNC	F1DAL4_HUMAN	.	UPI00003E7F93	SNV	NR1I3,5_prime_UTR_variant,,ENST00000367980,;NR1I3,5_prime_UTR_variant,,ENST00000506209,;NR1I3,5_prime_UTR_variant,,ENST00000367983,;NR1I3,5_prime_UTR_variant,,ENST00000515452,;NR1I3,upstream_gene_variant,,ENST00000504010,;NR1I3,upstream_gene_variant,,ENST00000511676,;NR1I3,upstream_gene_variant,,ENST00000512372,;NR1I3,upstream_gene_variant,,ENST00000367985,;NR1I3,upstream_gene_variant,,ENST00000367981,;NR1I3,upstream_gene_variant,,ENST00000412844,;NR1I3,upstream_gene_variant,,ENST00000367984,;NR1I3,upstream_gene_variant,,ENST00000428574,;NR1I3,upstream_gene_variant,,ENST00000515621,;NR1I3,upstream_gene_variant,,ENST00000367982,;NR1I3,upstream_gene_variant,,ENST00000367979,;NR1I3,upstream_gene_variant,,ENST00000508740,;NR1I3,upstream_gene_variant,,ENST00000511748,;NR1I3,upstream_gene_variant,,ENST00000437437,;NR1I3,upstream_gene_variant,,ENST00000502985,;NR1I3,upstream_gene_variant,,ENST00000511944,;NR1I3,upstream_gene_variant,,ENST00000505005,;NR1I3,upstream_gene_variant,,ENST00000508387,;NR1I3,upstream_gene_variant,,ENST00000442691,;NR1I3,upstream_gene_variant,,ENST00000503547,;NR1I3,upstream_gene_variant,,ENST00000505944,;NR1I3,upstream_gene_variant,,ENST00000506018,;NR1I3,upstream_gene_variant,,ENST00000502848,;NR1I3,upstream_gene_variant,,ENST00000510951,;NR1I3,upstream_gene_variant,,ENST00000512340,;NR1I3,upstream_gene_variant,,ENST00000491193,;NR1I3,upstream_gene_variant,,ENST00000507215,;	29	21	24	SUCCESS
GPR37	2861	.	GRCh37	7	124386471	124386471	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A9FV-01	TCGA-CC-A9FV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	4	58	0	ENST00000303921.2:c.*108A>G			ENST00000303921	NM_005302.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5792.1	.	MUTECT|MUSE	.	TTTCTTTATTG	NONE	.	.	.	.	.	ENSP00000306449	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303921	Transcript	.	.	ENSG00000170775	4494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR37_HUMAN	GPR37	HGNC	.	.	UPI0000001C92	SNV	GPR37,3_prime_UTR_variant,,ENST00000303921,;	2601	58	83	SUCCESS
FAM45A	0	.	GRCh37	10	120896412	120896412	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	132	309	0	ENST00000361432.2:c.*253A>G			ENST00000361432	NM_207009.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7609.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTACAGAACA	NONE	.	.	.	.	.	ENSP00000354688	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361432	Transcript	.	.	ENSG00000119979	31793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA45A_HUMAN	FAM45A	HGNC	.	.	UPI0000071DBA	SNV	FAM45A,3_prime_UTR_variant,,ENST00000361432,;SFXN4,downstream_gene_variant,,ENST00000355697,;SFXN4,downstream_gene_variant,,ENST00000330036,;FAM45A,downstream_gene_variant,,ENST00000544016,;FAM45A,downstream_gene_variant,,ENST00000535029,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489936,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489988,;FAM45A,intron_variant,,ENST00000498549,;SFXN4,downstream_gene_variant,,ENST00000461438,;FAM45A,downstream_gene_variant,,ENST00000462327,;SFXN4,downstream_gene_variant,,ENST00000484960,;SFXN4,downstream_gene_variant,,ENST00000490417,;	1353	309	191	SUCCESS
ITIH2	3698	.	GRCh37	10	7791465	7791465	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	13	14	0	ENST00000358415.4:c.*168A>G			ENST00000358415	NM_002216.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31141.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAATAAAC	NONE	.	.	.	.	.	ENSP00000351190	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000358415	Transcript	.	.	ENSG00000151655	6167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITIH2_HUMAN	ITIH2	HGNC	.	.	UPI000036665E	SNV	ITIH2,3_prime_UTR_variant,,ENST00000358415,;ITIH2,downstream_gene_variant,,ENST00000379587,;KIN,downstream_gene_variant,,ENST00000379562,;KIN,downstream_gene_variant,,ENST00000535925,;KIN,downstream_gene_variant,,ENST00000498098,;	3175	14	18	SUCCESS
SPPL3	121665	.	GRCh37	12	121202646	121202646	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1230461325	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	11	0	ENST00000353487.2:c.*156A>C			ENST00000353487	NM_139015.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9208.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TCTCCTGCAAA	NONE	.	.	.	.	.	ENSP00000288680	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000353487	Transcript	.	.	ENSG00000157837	30424	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPPL3_HUMAN	SPPL3	HGNC	F5H7J2_HUMAN,F5H6I1_HUMAN,F5H4Y6_HUMAN,F5H4L1_HUMAN,F5H2A2_HUMAN	.	UPI0000013590	SNV	SPPL3,3_prime_UTR_variant,,ENST00000353487,;SPPL3,downstream_gene_variant,,ENST00000543608,;SPPL3,downstream_gene_variant,,ENST00000536996,;SPPL3,downstream_gene_variant,,ENST00000543854,;RP11-173P15.7,upstream_gene_variant,,ENST00000542620,;SPPL3,non_coding_transcript_exon_variant,,ENST00000392495,;SPPL3,downstream_gene_variant,,ENST00000545209,;	1815	11	13	SUCCESS
LRRK2	120892	.	GRCh37	12	40618817	40618817	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	22	0				ENST00000298910	NM_198578.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31774.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCGCTGGCTG	NONE	.	59	.	.	.	ENSP00000298910	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,5_prime_UTR_variant,,ENST00000343742,;LRRK2,intron_variant,,ENST00000416796,;LRRK2,upstream_gene_variant,,ENST00000298910,;AC079630.4,upstream_gene_variant,,ENST00000412812,;LRRK2,upstream_gene_variant,,ENST00000474202,;	.	22	37	SUCCESS
NFATC4	4776	.	GRCh37	14	24847068	24847068	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	13	0	ENST00000250373.4:c.*157A>T			ENST00000250373	NM_004554.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45089.1	.	MUTECT|MUSE	.	CCCCCAGCTGA	NONE	.	.	.	.	.	ENSP00000388910	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,3_prime_UTR_variant,,ENST00000554050,;NFATC4,3_prime_UTR_variant,,ENST00000422617,;NFATC4,3_prime_UTR_variant,,ENST00000250373,;NFATC4,3_prime_UTR_variant,,ENST00000539237,;NFATC4,3_prime_UTR_variant,,ENST00000555167,;NFATC4,3_prime_UTR_variant,,ENST00000555453,;NFATC4,3_prime_UTR_variant,,ENST00000553708,;NFATC4,3_prime_UTR_variant,,ENST00000557451,;NFATC4,3_prime_UTR_variant,,ENST00000413692,;NFATC4,3_prime_UTR_variant,,ENST00000424781,;NFATC4,3_prime_UTR_variant,,ENST00000554591,;NFATC4,3_prime_UTR_variant,,ENST00000556759,;NFATC4,3_prime_UTR_variant,,ENST00000555802,;NFATC4,3_prime_UTR_variant,,ENST00000555393,;NFATC4,downstream_gene_variant,,ENST00000554473,;NFATC4,downstream_gene_variant,,ENST00000555590,;NFATC4,downstream_gene_variant,,ENST00000556169,;NFATC4,downstream_gene_variant,,ENST00000553469,;NFATC4,downstream_gene_variant,,ENST00000554661,;NFATC4,downstream_gene_variant,,ENST00000556279,;NFATC4,downstream_gene_variant,,ENST00000553879,;NFATC4,downstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000554966,;NFATC4,downstream_gene_variant,,ENST00000554344,;NFATC4,non_coding_transcript_exon_variant,,ENST00000555821,;NFATC4,downstream_gene_variant,,ENST00000557028,;NFATC4,downstream_gene_variant,,ENST00000556957,;NFATC4,downstream_gene_variant,,ENST00000556302,;NFATC4,downstream_gene_variant,,ENST00000554655,;	3958	13	24	SUCCESS
CDK5R1	8851	.	GRCh37	17	30817971	30817972	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs905830287	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	69	38	91	0	ENST00000313401.3:c.*2416dup			ENST00000313401	NM_003885.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11273.1	.	INDELOCATOR|VARSCANI	.	GTGCCATTTTT	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	insertion	CDK5R1,3_prime_UTR_variant,,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000394649,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,downstream_gene_variant,,ENST00000584792,;RP11-466A19.1,upstream_gene_variant,,ENST00000581360,;MYO1D,downstream_gene_variant,,ENST00000577576,;CDK5R1,downstream_gene_variant,,ENST00000584716,;MYO1D,downstream_gene_variant,,ENST00000577352,;	4022-4023	91	107	SUCCESS
ZNF28	7576	.	GRCh37	19	53302075	53302075	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	22	1	ENST00000457749.2:c.*866A>T			ENST00000457749	NM_006969.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33093.2	.	SOMATICSNIPER|VARSCANS	.	ATTACTGAAAA	NONE	.	.	.	.	.	ENSP00000397693	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000457749	Transcript	.	.	ENSG00000198538	13073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNF28_HUMAN	ZNF28	HGNC	C9K0H3_HUMAN	.	UPI00001D8190	SNV	ZNF28,3_prime_UTR_variant,,ENST00000360272,;ZNF28,3_prime_UTR_variant,,ENST00000457749,;ZNF28,3_prime_UTR_variant,,ENST00000438150,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000596559,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000414252,;	3143	23	17	SUCCESS
RUSC1	23623	.	GRCh37	1	155300391	155300391	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	40	0	ENST00000368352.5:c.*29T>C			ENST00000368352	NM_001105203.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41410.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTCTCCTTC	NONE	.	.	.	.	.	ENSP00000357336	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000368352	Transcript	.	.	ENSG00000160753	17153	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUSC1_HUMAN	RUSC1	HGNC	Q68CX2_HUMAN	.	UPI000046FDA5	SNV	RUSC1,3_prime_UTR_variant,,ENST00000368354,;RUSC1,3_prime_UTR_variant,,ENST00000292254,;RUSC1,3_prime_UTR_variant,,ENST00000368352,;RUSC1,3_prime_UTR_variant,,ENST00000368347,;RUSC1,3_prime_UTR_variant,,ENST00000368349,;ASH1L,downstream_gene_variant,,ENST00000368346,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,non_coding_transcript_exon_variant,,ENST00000471876,;RUSC1,non_coding_transcript_exon_variant,,ENST00000490373,;RUSC1,downstream_gene_variant,,ENST00000497930,;RUSC1,downstream_gene_variant,,ENST00000485924,;RUSC1,downstream_gene_variant,,ENST00000479924,;RUSC1,downstream_gene_variant,,ENST00000467820,;RUSC1,downstream_gene_variant,,ENST00000489860,;RUSC1,downstream_gene_variant,,ENST00000473331,;RUSC1,downstream_gene_variant,,ENST00000492536,;RUSC1,downstream_gene_variant,,ENST00000468764,;RUSC1,downstream_gene_variant,,ENST00000484664,;	2889	40	62	SUCCESS
CTBS	1486	.	GRCh37	1	85018793	85018793	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	170	419	0	ENST00000370630.5:c.*1889A>T			ENST00000370630	NM_004388.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS698.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTACAAT	NONE	.	.	.	.	.	ENSP00000359664	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370630	Transcript	.	.	ENSG00000117151	2496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIAC_HUMAN	CTBS	HGNC	.	.	UPI00001293CB	SNV	CTBS,3_prime_UTR_variant,,ENST00000370630,;SPATA1,non_coding_transcript_exon_variant,,ENST00000460286,;CTBS,downstream_gene_variant,,ENST00000477677,;SPATA1,downstream_gene_variant,,ENST00000431031,;SPATA1,downstream_gene_variant,,ENST00000490879,;CTBS,downstream_gene_variant,,ENST00000465118,;CTBS,downstream_gene_variant,,ENST00000370625,;SPATA1,non_coding_transcript_exon_variant,,ENST00000554297,;SPATA1,non_coding_transcript_exon_variant,,ENST00000263717,;	3096	419	262	SUCCESS
FKBP1B	2281	.	GRCh37	2	24286185	24286185	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	9	0	ENST00000380986.4:c.*123G>A			ENST00000380986	NM_004116.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1706.1	.	MUTECT|MUSE	.	TCATGGCATCA	NONE	.	.	.	.	.	ENSP00000370373	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000380986	Transcript	.	.	ENSG00000119782	3712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FKB1B_HUMAN	FKBP1B	HGNC	F8W6G9_HUMAN	.	UPI000014F291	SNV	FKBP1B,3_prime_UTR_variant,,ENST00000380991,;FKBP1B,3_prime_UTR_variant,,ENST00000380986,;FKBP1B,3_prime_UTR_variant,,ENST00000452109,;SF3B14,downstream_gene_variant,,ENST00000233468,;MFSD2B,3_prime_UTR_variant,,ENST00000453731,;FKBP1B,3_prime_UTR_variant,,ENST00000438630,;FKBP1B,3_prime_UTR_variant,,ENST00000421839,;FKBP1B,non_coding_transcript_exon_variant,,ENST00000496149,;	586	9	10	SUCCESS
SOX11	6664	.	GRCh37	2	5837059	5837059	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	42	0	ENST00000322002.3:c.*2880G>C			ENST00000322002	NM_003108.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCGGCGGCG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	4261	42	41	SUCCESS
SERTAD2	9792	.	GRCh37	2	64862963	64862963	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	50	0	ENST00000313349.3:c.*98del			ENST00000313349	NM_014755.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33210.1	.	INDELOCATOR*|PINDEL	.	TCTCTGAAAAAG	NONE	.	.	.	.	.	ENSP00000326933	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313349	Transcript	.	.	ENSG00000179833	30784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRTD2_HUMAN	SERTAD2	HGNC	.	.	UPI000004EC6D	deletion	SERTAD2,3_prime_UTR_variant,,ENST00000313349,;SERTAD2,downstream_gene_variant,,ENST00000476805,;	1341	50	62	SUCCESS
MAP4	4134	.	GRCh37	3	47894359	47894359	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	33	157	0	ENST00000360240.6:c.*163T>C			ENST00000360240	NM_002375.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33750.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGAGACAA	NONE	.	.	.	.	.	ENSP00000353375	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000360240	Transcript	.	.	ENSG00000047849	6862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP4_HUMAN	MAP4	HGNC	.	.	UPI000020A6A4	SNV	MAP4,missense_variant,p.Ser225Pro,ENST00000441748,;MAP4,missense_variant,p.Ser439Pro,ENST00000335271,;MAP4,missense_variant,p.Ser804Pro,ENST00000420772,;MAP4,missense_variant,p.Ser1111Pro,ENST00000395734,;MAP4,3_prime_UTR_variant,,ENST00000426837,;MAP4,3_prime_UTR_variant,,ENST00000360240,;MAP4,3_prime_UTR_variant,,ENST00000264724,;MAP4,3_prime_UTR_variant,,ENST00000429422,;MAP4,3_prime_UTR_variant,,ENST00000383737,;DHX30,downstream_gene_variant,,ENST00000348968,;DHX30,downstream_gene_variant,,ENST00000457607,;DHX30,downstream_gene_variant,,ENST00000446256,;DHX30,downstream_gene_variant,,ENST00000445061,;MIR1226,downstream_gene_variant,,ENST00000408658,;MAP4,downstream_gene_variant,,ENST00000477765,;DHX30,downstream_gene_variant,,ENST00000474183,;DHX30,downstream_gene_variant,,ENST00000395745,;	4141	158	119	SUCCESS
QARS1	0	.	GRCh37	3	49145928	49145928	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	28	83	0				ENST00000306125	NM_001272073.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56254.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGGGGGCCA	NONE	.	258	.	.	.	ENSP00000401197	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Pro1358Ala,ENST00000417901,;USP19,missense_variant,p.Pro1346Ala,ENST00000453664,;USP19,missense_variant,p.Pro1295Ala,ENST00000398898,;USP19,missense_variant,p.Pro1063Ala,ENST00000398896,;QARS,upstream_gene_variant,,ENST00000420147,;USP19,downstream_gene_variant,,ENST00000398892,;QARS,upstream_gene_variant,,ENST00000417025,;USP19,downstream_gene_variant,,ENST00000434032,;USP19,downstream_gene_variant,,ENST00000398888,;QARS,upstream_gene_variant,,ENST00000452739,;QARS,upstream_gene_variant,,ENST00000306125,;QARS,upstream_gene_variant,,ENST00000414533,;QARS,upstream_gene_variant,,ENST00000470619,;USP19,downstream_gene_variant,,ENST00000483667,;QARS,upstream_gene_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000418549,;QARS,upstream_gene_variant,,ENST00000464962,;QARS,upstream_gene_variant,,ENST00000482261,;QARS,upstream_gene_variant,,ENST00000494838,;QARS,upstream_gene_variant,,ENST00000482438,;QARS,upstream_gene_variant,,ENST00000430182,;	.	83	65	SUCCESS
CDHR4	389118	.	GRCh37	3	49828186	49828186	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	32	0	ENST00000412678.2:c.*79A>G			ENST00000412678	NM_001007540.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46829.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTTATTAT	NONE	.	.	.	.	.	ENSP00000391409	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000412678	Transcript	.	.	ENSG00000187492	34527	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDHR4_HUMAN	CDHR4	HGNC	.	.	UPI0001574E5E	SNV	CDHR4,3_prime_UTR_variant,,ENST00000487666,;CDHR4,3_prime_UTR_variant,,ENST00000412678,;IP6K1,upstream_gene_variant,,ENST00000321599,;IP6K1,upstream_gene_variant,,ENST00000395238,;IP6K1,upstream_gene_variant,,ENST00000460540,;IP6K1,upstream_gene_variant,,ENST00000468463,;CDHR4,non_coding_transcript_exon_variant,,ENST00000462108,;IP6K1,upstream_gene_variant,,ENST00000498149,;IP6K1,upstream_gene_variant,,ENST00000495152,;CDHR4,3_prime_UTR_variant,,ENST00000460430,;	2455	32	29	SUCCESS
DCAF16	54876	.	GRCh37	4	17804952	17804952	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	13	0	ENST00000382247.1:c.*162A>G			ENST00000382247	NM_017741.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3423.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTTGATATTAT	NONE	.	.	.	.	.	ENSP00000371682	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000382247	Transcript	.	.	ENSG00000163257	25987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCA16_HUMAN	DCAF16	HGNC	.	.	UPI000006D3DE	SNV	DCAF16,3_prime_UTR_variant,,ENST00000382247,;DCAF16,3_prime_UTR_variant,,ENST00000536863,;DCAF16,downstream_gene_variant,,ENST00000507768,;	1874	13	21	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6052342	6052342	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	58	108	0				ENST00000282924	NM_144720.3	624		0	.	.	.	.	.	A	S/I	protein_coding	YES	CCDS47005.1	1871	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGCGCTGCTG	NONE	.	.	hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6	.	.	ENSP00000386711	.	14/21	.	.	.	.	.	.	.	.	.	14/21	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.678)	.	tolerated(0.08)	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,missense_variant,p.Ser624Ile,ENST00000409021,;JAKMIP1,missense_variant,p.Ser439Ile,ENST00000409371,;JAKMIP1,downstream_gene_variant,,ENST00000409831,;JAKMIP1,downstream_gene_variant,,ENST00000282924,;JAKMIP1,downstream_gene_variant,,ENST00000410077,;JAKMIP1,downstream_gene_variant,,ENST00000473053,;	2321	108	83	SUCCESS
CDH18	1016	.	GRCh37	5	19473323	19473323	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	47	90	0				ENST00000274170				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3889.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCAAGAACT	NONE	.	.	.	.	.	ENSP00000425093	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000507958	Transcript	.	.	ENSG00000145526	1757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAD18_HUMAN	CDH18	HGNC	.	.	UPI0000126DBD	SNV	CDH18,3_prime_UTR_variant,,ENST00000382275,;CDH18,3_prime_UTR_variant,,ENST00000507958,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000274170,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	3376	90	138	SUCCESS
HIST1H2BN	0	.	GRCh37	6	27805803	27805803	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	71	127	0				ENST00000396980	NM_003520.3	105		0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS4632.1	315	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCCTGGGC	NONE	.	.	hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	.	.	ENSP00000330307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330180	Transcript	.	.	ENSG00000184348	4726	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.992)	.	deleterious_low_confidence(0)	.	H2A1_HUMAN	HIST1H2AK	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AK,missense_variant,p.Gln105His,ENST00000330180,;HIST1H2BN,upstream_gene_variant,,ENST00000396980,;HIST1H2BN,upstream_gene_variant,,ENST00000606613,;HIST1H2BN,upstream_gene_variant,,ENST00000449538,;	315	127	152	SUCCESS
RXRB	6257	.	GRCh37	6	33156817	33156817	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	38	150	1				ENST00000374680	NM_021976.4	127		0	.	.	.	.	.	G	Q/H	protein_coding	YES	CCDS43452.1	381	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTCTGGTC	NONE	.	.	Pfam_domain:PF02210,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899	.	.	ENSP00000363840	.	3/64	.	.	.	.	.	.	.	.	.	3/64	PASS	ENST00000374708	Transcript	.	.	ENSG00000204248	2187	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.988)	.	.	.	.	COL11A2	HGNC	Q6LCP7_HUMAN,Q4VXY6_HUMAN	.	UPI000013E9A5	SNV	COL11A2,missense_variant,p.Gln127His,ENST00000395197,;COL11A2,missense_variant,p.Gln127His,ENST00000395194,;COL11A2,missense_variant,p.Gln127His,ENST00000374713,;COL11A2,missense_variant,p.Gln127His,ENST00000361917,;COL11A2,missense_variant,p.Gln127His,ENST00000374712,;COL11A2,missense_variant,p.Gln127His,ENST00000357486,;COL11A2,missense_variant,p.Gln127His,ENST00000374708,;COL11A2,missense_variant,p.Gln127His,ENST00000457788,;COL11A2,missense_variant,p.Gln127His,ENST00000341947,;COL11A2,missense_variant,p.Gln127His,ENST00000374714,;RXRB,downstream_gene_variant,,ENST00000374680,;RXRB,downstream_gene_variant,,ENST00000374685,;	640	152	147	SUCCESS
PFDN6	10471	.	GRCh37	6	33261574	33261574	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	80	1				ENST00000374606	NM_001185181.2	502		0	.	.	.	.	.	T	Q	protein_coding	YES	CCDS4774.1	1506	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCTCTGAGC	NONE	.	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF159,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	.	.	ENSP00000420211	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000497454	Transcript	.	.	ENSG00000237441	9769	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,synonymous_variant,p.%3D,ENST00000444031,;RGL2,synonymous_variant,p.%3D,ENST00000497454,;PFDN6,intron_variant,,ENST00000463584,;RGL2,downstream_gene_variant,,ENST00000425946,;WDR46,upstream_gene_variant,,ENST00000444176,;WDR46,upstream_gene_variant,,ENST00000374617,;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374607,;PFDN6,downstream_gene_variant,,ENST00000374610,;PFDN6,downstream_gene_variant,,ENST00000374606,;RGL2,splice_region_variant,,ENST00000471319,;RGL2,splice_region_variant,,ENST00000437840,;RGL2,splice_region_variant,,ENST00000491168,;WDR46,upstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000485077,;WDR46,upstream_gene_variant,,ENST00000468157,;RGL2,splice_region_variant,,ENST00000476616,;RGL2,splice_region_variant,,ENST00000483151,;WDR46,upstream_gene_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000478610,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;RGL2,downstream_gene_variant,,ENST00000494550,;PFDN6,downstream_gene_variant,,ENST00000491382,;	2002	81	77	SUCCESS
FUT9	10690	.	GRCh37	6	96661975	96661975	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1300358648	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	80	131	0	ENST00000302103.5:c.*9864T>C			ENST00000302103	NM_006581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATATTGTGG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	11270	131	180	SUCCESS
FUT9	10690	.	GRCh37	6	96663131	96663131	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs564040208	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	105	0	ENST00000302103.5:c.*11020G>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTGAAATT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	rs564040208	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	12426	105	72	SUCCESS
PMPCB	9512	.	GRCh37	7	102953197	102953197	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	26	0	ENST00000249269.4:c.*479A>C			ENST00000249269	NM_004279.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5730.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAAATATAC	NONE	.	.	.	.	.	ENSP00000249269	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,3_prime_UTR_variant,,ENST00000249269,;DNAJC2,intron_variant,,ENST00000249270,;DNAJC2,intron_variant,,ENST00000379263,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,intron_variant,,ENST00000464253,;DNAJC2,intron_variant,,ENST00000475065,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	1987	26	30	SUCCESS
DGAT2L6	347516	.	GRCh37	X	69425085	69425085	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	31	0	ENST00000333026.3:c.*129T>C			ENST00000333026	NM_198512.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14397.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGAAATTATTT	NONE	.	.	.	.	.	ENSP00000328036	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000333026	Transcript	.	.	ENSG00000184210	23250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DG2L6_HUMAN	DGAT2L6	HGNC	.	.	UPI00001C10BF	SNV	DGAT2L6,3_prime_UTR_variant,,ENST00000333026,;	1243	31	38	SUCCESS
LPAR4	2846	.	GRCh37	X	78012373	78012373	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-CC-A9FW-01	TCGA-CC-A9FW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	155	137	1	ENST00000435339.3:c.*894G>T			ENST00000435339	NM_005296.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14441.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGTCAGG	NONE	.	.	.	.	.	ENSP00000408205	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000435339	Transcript	.	.	ENSG00000147145	4478	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPAR4_HUMAN	LPAR4	HGNC	.	.	UPI000005041D	SNV	LPAR4,3_prime_UTR_variant,,ENST00000435339,;LPAR4,downstream_gene_variant,,ENST00000514744,;LPAR4,downstream_gene_variant,,ENST00000607964,;	2393	138	192	SUCCESS
DLAT	1737	.	GRCh37	11	111934789	111934789	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	44	0	ENST00000280346.6:c.*1530T>C			ENST00000280346	NM_001931.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8354.1	.	RADIA|VARSCANS	.	TTAATTTGATT	NONE	.	.	.	.	.	ENSP00000280346	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000280346	Transcript	.	.	ENSG00000150768	2896	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ODP2_HUMAN	DLAT	HGNC	Q86YI5_HUMAN	.	UPI000000D963	SNV	DLAT,3_prime_UTR_variant,,ENST00000280346,;PIH1D2,3_prime_UTR_variant,,ENST00000528775,;DLAT,3_prime_UTR_variant,,ENST00000393051,;PIH1D2,3_prime_UTR_variant,,ENST00000431456,;DLAT,downstream_gene_variant,,ENST00000537636,;PIH1D2,downstream_gene_variant,,ENST00000280350,;PIH1D2,downstream_gene_variant,,ENST00000532211,;PIH1D2,downstream_gene_variant,,ENST00000525072,;DLAT,downstream_gene_variant,,ENST00000531306,;DLAT,downstream_gene_variant,,ENST00000533297,;DLAT,downstream_gene_variant,,ENST00000527231,;	4133	44	35	SUCCESS
OR51E1	143503	.	GRCh37	11	4676698	4676698	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	15	27	0	ENST00000396952.5:c.*1985A>G			ENST00000396952	NM_152430.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31358.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTATTGTG	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	3592	27	21	SUCCESS
ABHD13	84945	.	GRCh37	13	108882865	108882865	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1400007592	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	64	108	0	ENST00000375898.3:c.*285A>G			ENST00000375898	NM_032859.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTAAAGTG	NONE	.	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	1600	108	154	SUCCESS
ATP5EP2	0	.	GRCh37	13	28519559	28519559	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs192325513	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	234	302	0	ENST00000381026.3:c.*7C>G			ENST00000381026				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCTGACT	NONE	byCluster|by1000G	.	.	.	.	ENSP00000370414	.	1/1	.	.	.	.	.	.	.	.	rs192325513	1/1	PASS	ENST00000381026	Transcript	.	.	ENSG00000180389	34026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT5EL_HUMAN	ATP5EP2	HGNC	.	.	UPI00001616B3	SNV	ATP5EP2,3_prime_UTR_variant,,ENST00000381026,;	217	302	299	SUCCESS
LCP1	3936	.	GRCh37	13	46701650	46701670	+	3_prime_UTR_variant	3'UTR	DEL	CTTGAATCATCCCTGGAGCAT	CTTGAATCATCCCTGGAGCAT	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	CTTGAATCATCCCTGGAGCAT	CTTGAATCATCCCTGGAGCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	21	0	ENST00000323076.2:c.*56_*76del			ENST00000323076	NM_002298.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9403.1	.	INDELOCATOR|VARSCANI	.	GAATGGCTTGAATCATCCCTGGAGCATCTGTG	NONE	.	.	.	.	.	ENSP00000381581	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000398576	Transcript	.	.	ENSG00000136167	6528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLSL_HUMAN	LCP1	HGNC	Q5TBN5_HUMAN,Q5TBN3_HUMAN	.	UPI0000070B5C	deletion	LCP1,3_prime_UTR_variant,,ENST00000323076,;LCP1,3_prime_UTR_variant,,ENST00000398576,;LCP1,3_prime_UTR_variant,,ENST00000435666,;	2329-2349	21	15	SUCCESS
MEP1B	4225	.	GRCh37	18	29800250	29800250	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	82	0	ENST00000269202.6:c.*42G>A			ENST00000269202	NM_005925.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45846.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGATTCT	NONE	.	.	.	.	.	ENSP00000269202	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	SNV	MEP1B,3_prime_UTR_variant,,ENST00000269202,;MEP1B,3_prime_UTR_variant,,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;	2195	82	85	SUCCESS
LILRA4	23547	.	GRCh37	19	54844833	54844833	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	242	16	207	0	ENST00000291759.4:c.*10G>T			ENST00000291759	NM_012276.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12890.1	.	MUTECT|MUSE	.	AACCTCCTCAG	NONE	.	.	.	.	.	ENSP00000291759	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291759	Transcript	.	.	ENSG00000239961	15503	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIRA4_HUMAN	LILRA4	HGNC	.	.	UPI0000202BCD	SNV	LILRA4,3_prime_UTR_variant,,ENST00000291759,;AC008984.2,intron_variant,,ENST00000507363,;LILRA4,downstream_gene_variant,,ENST00000421056,;LILRA4,downstream_gene_variant,,ENST00000595581,;AC008984.6,upstream_gene_variant,,ENST00000515672,;	1567	207	258	SUCCESS
GON4L	54856	.	GRCh37	1	155720106	155720106	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	9	0	ENST00000368331.1:c.*269del			ENST00000368331	NM_001037533.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44242.1	.	INDELOCATOR|VARSCANI	.	CAGACCAAAAAA	NONE	.	.	.	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	deletion	GON4L,3_prime_UTR_variant,,ENST00000437809,;GON4L,3_prime_UTR_variant,,ENST00000368331,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,downstream_gene_variant,,ENST00000271883,;GON4L,non_coding_transcript_exon_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	7115	9	36	SUCCESS
SLC9C1	285335	.	GRCh37	3	111860036	111860036	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	304	216	587	0	ENST00000305815.5:c.*83G>T			ENST00000305815	NM_183061.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33817.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCTTGAT	NONE	.	.	.	.	.	ENSP00000306627	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,3_prime_UTR_variant,,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000305815,;SLC9C1,downstream_gene_variant,,ENST00000471295,;	3870	587	520	SUCCESS
ZMAT3	64393	.	GRCh37	3	178742743	178742743	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	55	0	ENST00000311417.2:c.*62C>A			ENST00000311417	NM_022470.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3224.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGGCAAG	NONE	.	.	.	.	.	ENSP00000311221	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000311417	Transcript	.	.	ENSG00000172667	29983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMAT3_HUMAN	ZMAT3	HGNC	C9J8H5_HUMAN	.	UPI000006FC96	SNV	ZMAT3,3_prime_UTR_variant,,ENST00000432729,;ZMAT3,3_prime_UTR_variant,,ENST00000311417,;ZMAT3,downstream_gene_variant,,ENST00000414084,;	1674	55	48	SUCCESS
SOX2	6657	.	GRCh37	3	181431636	181431636	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	384	143	385	0	ENST00000325404.1:c.*536del			ENST00000325404	NM_003106.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3239.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGAATTTGCC	NONE	.	.	.	.	.	ENSP00000323588	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325404	Transcript	.	.	ENSG00000181449	11195	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX2_HUMAN	SOX2	HGNC	.	.	UPI000003F545	deletion	SOX2,3_prime_UTR_variant,,ENST00000325404,;SOX2,downstream_gene_variant,,ENST00000431565,;SOX2-OT,intron_variant,,ENST00000498731,;SOX2-OT,intron_variant,,ENST00000595287,;SOX2-OT,intron_variant,,ENST00000593549,;SOX2-OT,intron_variant,,ENST00000597828,;SOX2-OT,intron_variant,,ENST00000493521,;SOX2-OT,intron_variant,,ENST00000593330,;SOX2-OT,intron_variant,,ENST00000477928,;SOX2-OT,intron_variant,,ENST00000600778,;SOX2-OT,intron_variant,,ENST00000596250,;SOX2-OT,intron_variant,,ENST00000600386,;SOX2-OT,intron_variant,,ENST00000598474,;SOX2-OT,intron_variant,,ENST00000476964,;SOX2-OT,intron_variant,,ENST00000492337,;SOX2-OT,intron_variant,,ENST00000466034,;SOX2-OT,intron_variant,,ENST00000491282,;SOX2-OT,intron_variant,,ENST00000498226,;SOX2-OT,intron_variant,,ENST00000599082,;SOX2-OT,intron_variant,,ENST00000469278,;SOX2-OT,intron_variant,,ENST00000600801,;SOX2-OT,intron_variant,,ENST00000597651,;SOX2-OT,downstream_gene_variant,,ENST00000600962,;SOX2-OT,downstream_gene_variant,,ENST00000476125,;	1915	385	527	SUCCESS
QARS1	0	.	GRCh37	3	49145886	49145886	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1458156658	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	57	0				ENST00000306125	NM_001272073.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56254.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCCGATCCA	NONE	.	300	.	.	.	ENSP00000401197	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Arg1372Trp,ENST00000417901,;USP19,missense_variant,p.Arg1360Trp,ENST00000453664,;USP19,missense_variant,p.Arg1309Trp,ENST00000398898,;USP19,missense_variant,p.Arg1077Trp,ENST00000398896,;QARS,upstream_gene_variant,,ENST00000420147,;USP19,downstream_gene_variant,,ENST00000398892,;QARS,upstream_gene_variant,,ENST00000417025,;USP19,downstream_gene_variant,,ENST00000434032,;USP19,downstream_gene_variant,,ENST00000398888,;QARS,upstream_gene_variant,,ENST00000452739,;QARS,upstream_gene_variant,,ENST00000306125,;QARS,upstream_gene_variant,,ENST00000414533,;QARS,upstream_gene_variant,,ENST00000470619,;USP19,downstream_gene_variant,,ENST00000483667,;QARS,upstream_gene_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000418549,;QARS,upstream_gene_variant,,ENST00000464962,;QARS,upstream_gene_variant,,ENST00000482261,;QARS,upstream_gene_variant,,ENST00000494838,;QARS,upstream_gene_variant,,ENST00000482438,;QARS,upstream_gene_variant,,ENST00000430182,;	.	57	45	SUCCESS
C5orf30	0	.	GRCh37	5	102613862	102613862	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1446657077	.	TCGA-DD-A113-01	TCGA-DD-A113-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	25	184	0	ENST00000319933.2:c.*1621T>G			ENST00000319933	NM_033211.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4095.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTAAATT	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;C5orf30,downstream_gene_variant,,ENST00000515669,;	2550	184	252	SUCCESS
COL19A1	1310	.	GRCh37	6	70917033	70917033	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	18	0	ENST00000322773.4:c.*55C>G			ENST00000322773	NM_001858.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4970.1	.	MUTECT|MUSE	.	GCTCTCTTAAT	NONE	.	.	.	.	.	ENSP00000316030	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,3_prime_UTR_variant,,ENST00000322773,;COL19A1,3_prime_UTR_variant,,ENST00000393344,;	3586	18	22	SUCCESS
CARD11	84433	.	GRCh37	7	2946211	2946211	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1174058099	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	52	0	ENST00000396946.4:c.*61G>A			ENST00000396946	NM_032415.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5336.2	.	SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCAGGGT	NONE	.	.	.	.	.	ENSP00000380150	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,3_prime_UTR_variant,,ENST00000396946,;	3930	52	76	SUCCESS
NPC1L1	29881	.	GRCh37	7	44553006	44553006	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	16	77	0	ENST00000289547.4:c.*40C>G			ENST00000289547	NM_013389.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5491.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGGTTCA	NONE	.	.	.	.	.	ENSP00000289547	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,3_prime_UTR_variant,,ENST00000546276,;NPC1L1,3_prime_UTR_variant,,ENST00000381160,;NPC1L1,3_prime_UTR_variant,,ENST00000289547,;AC004938.5,upstream_gene_variant,,ENST00000438468,;	4176	77	96	SUCCESS
SEMA3A	10371	.	GRCh37	7	83590481	83590481	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	10	0	ENST00000265362.4:c.*206G>A			ENST00000265362	NM_006080.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5599.1	.	MUTECT|MUSE	.	GTTCTCTGTTA	NONE	.	.	.	.	.	ENSP00000265362	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,3_prime_UTR_variant,,ENST00000265362,;SEMA3A,downstream_gene_variant,,ENST00000436949,;	2837	10	15	SUCCESS
E2F5	1875	.	GRCh37	8	86126117	86126117	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	25	177	0	ENST00000416274.2:c.*20C>T			ENST00000416274	NM_001083588.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47885.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACTGTTA	NONE	.	.	.	.	.	ENSP00000398124	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000416274	Transcript	.	.	ENSG00000133740	3119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E2F5_HUMAN	E2F5	HGNC	.	.	UPI000002E057	SNV	E2F5,3_prime_UTR_variant,,ENST00000517476,;E2F5,3_prime_UTR_variant,,ENST00000256117,;E2F5,3_prime_UTR_variant,,ENST00000416274,;E2F5,3_prime_UTR_variant,,ENST00000518234,;E2F5,3_prime_UTR_variant,,ENST00000418930,;E2F5,3_prime_UTR_variant,,ENST00000521429,;E2F5,intron_variant,,ENST00000520225,;C8orf59,downstream_gene_variant,,ENST00000524353,;C8orf59,downstream_gene_variant,,ENST00000417663,;C8orf59,downstream_gene_variant,,ENST00000321777,;C8orf59,downstream_gene_variant,,ENST00000421308,;C8orf59,downstream_gene_variant,,ENST00000518091,;C8orf59,downstream_gene_variant,,ENST00000523281,;C8orf59,downstream_gene_variant,,ENST00000545322,;C8orf59,downstream_gene_variant,,ENST00000518562,;C8orf59,downstream_gene_variant,,ENST00000458398,;C8orf59,downstream_gene_variant,,ENST00000431163,;E2F5,non_coding_transcript_exon_variant,,ENST00000519128,;C8orf59,downstream_gene_variant,,ENST00000520236,;C8orf59,downstream_gene_variant,,ENST00000521286,;C8orf59,downstream_gene_variant,,ENST00000523245,;C8orf59,downstream_gene_variant,,ENST00000518786,;	1095	177	230	SUCCESS
REXO1L1P	254958	.	GRCh37	8	86572219	86572219	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs5016737	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	18	0	ENST00000379010.2:c.*1480C>T			ENST00000379010	NM_172239.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	ATGCGGTAGGC	NONE	.	.	.	.	.	ENSP00000368295	.	1/1	.	.	.	.	.	.	.	.	rs5016737	1/1	PASS	ENST00000379010	Transcript	.	.	ENSG00000205176	24660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOR_HUMAN	REXO1L1P	HGNC	.	.	UPI000057A11F	SNV	REXO1L1P,3_prime_UTR_variant,,ENST00000379010,;REXO1L3P,upstream_gene_variant,,ENST00000608646,;	3508	18	24	SUCCESS
SEMA4D	10507	.	GRCh37	9	91991876	91991876	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs773945241	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	66	0				ENST00000356444				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6685.1	.	RADIA|MUTECT|MUSE	.	AGGGGGTCCAG	NONE	byFrequency	.	.	.	.	ENSP00000416523	.	16/16	.	.	.	.	.	.	.	.	rs773945241	16/16	PASS	ENST00000450295	Transcript	.	.	ENSG00000187764	10732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEM4D_HUMAN	SEMA4D	HGNC	F5H044_HUMAN,C9JYS7_HUMAN,C9JFP1_HUMAN,C9JD54_HUMAN	.	UPI0000135A6C	SNV	SEMA4D,missense_variant,p.Thr585Asn,ENST00000343780,;SEMA4D,missense_variant,p.Thr585Asn,ENST00000420987,;SEMA4D,missense_variant,p.Thr585Asn,ENST00000339861,;SEMA4D,missense_variant,p.Thr585Asn,ENST00000455551,;SEMA4D,3_prime_UTR_variant,,ENST00000450295,;SEMA4D,downstream_gene_variant,,ENST00000422704,;SEMA4D,downstream_gene_variant,,ENST00000438547,;SEMA4D,downstream_gene_variant,,ENST00000356444,;SEMA4D,non_coding_transcript_exon_variant,,ENST00000492386,;SEMA4D,intron_variant,,ENST00000537934,;SEMA4D,intron_variant,,ENST00000429836,;SEMA4D,downstream_gene_variant,,ENST00000486935,;SEMA4D,downstream_gene_variant,,ENST00000544513,;SEMA4D,downstream_gene_variant,,ENST00000540183,;	5109	66	59	SUCCESS
ZCCHC16	0	.	GRCh37	X	111699130	111699130	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1421654176	.	TCGA-DD-A113-01	TCGA-DD-A113-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	106	0	ENST00000340433.2:c.*241C>T			ENST00000340433	NM_001004308.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTCTCCAA	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,3_prime_UTR_variant,,ENST00000340433,;	1404	106	73	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910537	144910537	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	41	231	0				ENST00000370490				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14681.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGTTTCA	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1610	231	204	SUCCESS
DLAT	1737	.	GRCh37	11	111934789	111934789	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	46	0	ENST00000280346.6:c.*1530T>C			ENST00000280346	NM_001931.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8354.1	.	RADIA|VARSCANS	.	TTAATTTGATT	NONE	.	.	.	.	.	ENSP00000280346	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000280346	Transcript	.	.	ENSG00000150768	2896	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ODP2_HUMAN	DLAT	HGNC	Q86YI5_HUMAN	.	UPI000000D963	SNV	DLAT,3_prime_UTR_variant,,ENST00000280346,;PIH1D2,3_prime_UTR_variant,,ENST00000528775,;DLAT,3_prime_UTR_variant,,ENST00000393051,;PIH1D2,3_prime_UTR_variant,,ENST00000431456,;DLAT,downstream_gene_variant,,ENST00000537636,;PIH1D2,downstream_gene_variant,,ENST00000280350,;PIH1D2,downstream_gene_variant,,ENST00000532211,;PIH1D2,downstream_gene_variant,,ENST00000525072,;DLAT,downstream_gene_variant,,ENST00000531306,;DLAT,downstream_gene_variant,,ENST00000533297,;DLAT,downstream_gene_variant,,ENST00000527231,;	4133	46	35	SUCCESS
OR51E1	143503	.	GRCh37	11	4676698	4676698	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	15	40	0	ENST00000396952.5:c.*1985A>G			ENST00000396952	NM_152430.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31358.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACTATTGTG	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	3592	40	21	SUCCESS
ABHD13	84945	.	GRCh37	13	108882865	108882865	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1400007592	.	TCGA-DD-A113-01	TCGA-DD-A113-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	64	125	1	ENST00000375898.3:c.*285A>G			ENST00000375898	NM_032859.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTAAAGTG	NONE	.	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	1600	126	154	SUCCESS
ATP5EP2	0	.	GRCh37	13	28519559	28519559	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs192325513	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	234	310	0	ENST00000381026.3:c.*7C>G			ENST00000381026				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACCCTGACT	NONE	byCluster|by1000G	.	.	.	.	ENSP00000370414	.	1/1	.	.	.	.	.	.	.	.	rs192325513	1/1	nonpreferredpair	ENST00000381026	Transcript	.	.	ENSG00000180389	34026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT5EL_HUMAN	ATP5EP2	HGNC	.	.	UPI00001616B3	SNV	ATP5EP2,3_prime_UTR_variant,,ENST00000381026,;	217	310	299	SUCCESS
LCP1	3936	.	GRCh37	13	46701650	46701670	+	3_prime_UTR_variant	3'UTR	DEL	CTTGAATCATCCCTGGAGCAT	CTTGAATCATCCCTGGAGCAT	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	CTTGAATCATCCCTGGAGCAT	CTTGAATCATCCCTGGAGCAT	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	36	0	ENST00000323076.2:c.*56_*76del			ENST00000323076	NM_002298.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9403.1	.	INDELOCATOR|VARSCANI	.	GAATGGCTTGAATCATCCCTGGAGCATCTGTG	NONE	.	.	.	.	.	ENSP00000381581	.	19/19	.	.	.	.	.	.	.	.	.	19/19	nonpreferredpair	ENST00000398576	Transcript	.	.	ENSG00000136167	6528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLSL_HUMAN	LCP1	HGNC	Q5TBN5_HUMAN,Q5TBN3_HUMAN	.	UPI0000070B5C	deletion	LCP1,3_prime_UTR_variant,,ENST00000323076,;LCP1,3_prime_UTR_variant,,ENST00000398576,;LCP1,3_prime_UTR_variant,,ENST00000435666,;	2329-2349	36	15	SUCCESS
MEP1B	4225	.	GRCh37	18	29800250	29800250	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	10	68	0	ENST00000269202.6:c.*42G>A			ENST00000269202	NM_005925.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45846.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGATTCT	NONE	.	.	.	.	.	ENSP00000269202	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000269202	Transcript	.	.	ENSG00000141434	7020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MEP1B_HUMAN	MEP1B	HGNC	J3KRK1_HUMAN	.	UPI0000201B8B	SNV	MEP1B,3_prime_UTR_variant,,ENST00000269202,;MEP1B,3_prime_UTR_variant,,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;	2195	68	85	SUCCESS
GIPR	2696	.	GRCh37	19	46185457	46185457	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs73042335	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	11	11	0	ENST00000590918.1:c.*264G>A			ENST00000590918	NM_000164.2			0	.	A:0.0098	.	A:0.0389	.	A	.	protein_coding	YES	CCDS12671.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAAGCCATC	NONE	byFrequency|byCluster|by1000G	.	.	A:0.1091	.	ENSP00000467494	A:0.0636	14/14	.	.	.	.	.	.	.	.	rs73042335	14/14	nonpreferredpair	ENST00000590918	Transcript	.	A:0.0545	ENSG00000010310	4271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.0603	.	.	GIPR_HUMAN	GIPR	HGNC	Q4VBP1_HUMAN	.	UPI00000503FD	SNV	GIPR,3_prime_UTR_variant,,ENST00000590918,;GIPR,downstream_gene_variant,,ENST00000304207,;GIPR,downstream_gene_variant,,ENST00000263281,;GIPR,downstream_gene_variant,,ENST00000593127,;GIPR,downstream_gene_variant,,ENST00000585889,;GIPR,downstream_gene_variant,,ENST00000591224,;	1764	11	20	SUCCESS
LILRA4	23547	.	GRCh37	19	54844833	54844833	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	242	16	208	0	ENST00000291759.4:c.*10G>T			ENST00000291759	NM_012276.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12890.1	.	MUTECT|MUSE	.	AACCTCCTCAG	NONE	.	.	.	.	.	ENSP00000291759	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000291759	Transcript	.	.	ENSG00000239961	15503	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIRA4_HUMAN	LILRA4	HGNC	.	.	UPI0000202BCD	SNV	LILRA4,3_prime_UTR_variant,,ENST00000291759,;AC008984.2,intron_variant,,ENST00000507363,;LILRA4,downstream_gene_variant,,ENST00000421056,;LILRA4,downstream_gene_variant,,ENST00000595581,;AC008984.6,upstream_gene_variant,,ENST00000515672,;	1567	208	258	SUCCESS
SLC9C1	285335	.	GRCh37	3	111860036	111860036	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	304	216	474	0	ENST00000305815.5:c.*83G>T			ENST00000305815	NM_183061.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33817.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTTCTTGAT	NONE	.	.	.	.	.	ENSP00000306627	.	29/29	.	.	.	.	.	.	.	.	.	29/29	nonpreferredpair	ENST00000305815	Transcript	.	.	ENSG00000172139	31401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SL9C1_HUMAN	SLC9C1	HGNC	C9J3M6_HUMAN	.	UPI00002372C5	SNV	SLC9C1,3_prime_UTR_variant,,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000305815,;SLC9C1,downstream_gene_variant,,ENST00000471295,;	3870	475	520	SUCCESS
ZMAT3	64393	.	GRCh37	3	178742743	178742743	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	64	0	ENST00000311417.2:c.*62C>A			ENST00000311417	NM_022470.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3224.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCAGGGCAAG	NONE	.	.	.	.	.	ENSP00000311221	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000311417	Transcript	.	.	ENSG00000172667	29983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMAT3_HUMAN	ZMAT3	HGNC	C9J8H5_HUMAN	.	UPI000006FC96	SNV	ZMAT3,3_prime_UTR_variant,,ENST00000432729,;ZMAT3,3_prime_UTR_variant,,ENST00000311417,;ZMAT3,downstream_gene_variant,,ENST00000414084,;	1674	64	48	SUCCESS
SOX2	6657	.	GRCh37	3	181431636	181431636	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	384	143	404	0	ENST00000325404.1:c.*536del			ENST00000325404	NM_003106.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3239.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGAATTTGCC	NONE	.	.	.	.	.	ENSP00000323588	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000325404	Transcript	.	.	ENSG00000181449	11195	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX2_HUMAN	SOX2	HGNC	.	.	UPI000003F545	deletion	SOX2,3_prime_UTR_variant,,ENST00000325404,;SOX2,downstream_gene_variant,,ENST00000431565,;SOX2-OT,intron_variant,,ENST00000498731,;SOX2-OT,intron_variant,,ENST00000595287,;SOX2-OT,intron_variant,,ENST00000593549,;SOX2-OT,intron_variant,,ENST00000597828,;SOX2-OT,intron_variant,,ENST00000493521,;SOX2-OT,intron_variant,,ENST00000593330,;SOX2-OT,intron_variant,,ENST00000477928,;SOX2-OT,intron_variant,,ENST00000600778,;SOX2-OT,intron_variant,,ENST00000596250,;SOX2-OT,intron_variant,,ENST00000600386,;SOX2-OT,intron_variant,,ENST00000598474,;SOX2-OT,intron_variant,,ENST00000476964,;SOX2-OT,intron_variant,,ENST00000492337,;SOX2-OT,intron_variant,,ENST00000466034,;SOX2-OT,intron_variant,,ENST00000491282,;SOX2-OT,intron_variant,,ENST00000498226,;SOX2-OT,intron_variant,,ENST00000599082,;SOX2-OT,intron_variant,,ENST00000469278,;SOX2-OT,intron_variant,,ENST00000600801,;SOX2-OT,intron_variant,,ENST00000597651,;SOX2-OT,downstream_gene_variant,,ENST00000600962,;SOX2-OT,downstream_gene_variant,,ENST00000476125,;	1915	404	527	SUCCESS
QARS1	0	.	GRCh37	3	49145886	49145886	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1458156658	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	34	0				ENST00000306125	NM_001272073.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGATCCA	NONE	.	300	.	.	.	ENSP00000401197	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	SNV	USP19,missense_variant,p.Arg1372Trp,ENST00000417901,;USP19,missense_variant,p.Arg1360Trp,ENST00000453664,;USP19,missense_variant,p.Arg1309Trp,ENST00000398898,;USP19,missense_variant,p.Arg1077Trp,ENST00000398896,;QARS,upstream_gene_variant,,ENST00000420147,;USP19,downstream_gene_variant,,ENST00000398892,;QARS,upstream_gene_variant,,ENST00000417025,;USP19,downstream_gene_variant,,ENST00000434032,;USP19,downstream_gene_variant,,ENST00000398888,;QARS,upstream_gene_variant,,ENST00000452739,;QARS,upstream_gene_variant,,ENST00000306125,;QARS,upstream_gene_variant,,ENST00000414533,;QARS,upstream_gene_variant,,ENST00000470619,;USP19,downstream_gene_variant,,ENST00000483667,;QARS,upstream_gene_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000418549,;QARS,upstream_gene_variant,,ENST00000464962,;QARS,upstream_gene_variant,,ENST00000482261,;QARS,upstream_gene_variant,,ENST00000494838,;QARS,upstream_gene_variant,,ENST00000482438,;QARS,upstream_gene_variant,,ENST00000430182,;	.	34	45	SUCCESS
C5orf30	0	.	GRCh37	5	102613862	102613862	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1446657077	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	226	25	192	0	ENST00000319933.2:c.*1621T>G			ENST00000319933	NM_033211.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4095.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGTAAATT	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;C5orf30,downstream_gene_variant,,ENST00000515669,;	2550	193	252	SUCCESS
U91328.2	0	.	GRCh37	6	26043596	26043596	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs756126649	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	151	11	166	0				ENST00000454320		97		0	.	.	.	.	.	A	T/M	protein_coding	YES	CCDS4575.1	290	MUTECT|MUSE	.	CAGCCGTCTGA	NONE	.	.	hmmpanther:PTHR23428,PROSITE_patterns:PS00357,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621	.	.	ENSP00000350580	.	1/1	.	.	.	.	.	.	.	.	rs756126649,COSM1442576	1/1	nonpreferredpair	ENST00000357905	Transcript	.	.	ENSG00000196226	4751	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	0,1	.	.	probably_damaging(0.968)	.	deleterious_low_confidence(0.02)	0,1	H2B1B_HUMAN	HIST1H2BB	HGNC	.	.	UPI0000001BD2	SNV	HIST1H2BB,missense_variant,p.Thr97Met,ENST00000357905,;HIST1H3C,upstream_gene_variant,,ENST00000540144,;U91328.2,upstream_gene_variant,,ENST00000454320,;	290	166	162	SUCCESS
COL19A1	1310	.	GRCh37	6	70917033	70917033	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	24	0	ENST00000322773.4:c.*55C>G			ENST00000322773	NM_001858.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4970.1	.	MUTECT|MUSE	.	GCTCTCTTAAT	NONE	.	.	.	.	.	ENSP00000316030	.	51/51	.	.	.	.	.	.	.	.	.	51/51	nonpreferredpair	ENST00000322773	Transcript	.	.	ENSG00000082293	2196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COJA1_HUMAN	COL19A1	HGNC	.	.	UPI000004F1E3	SNV	COL19A1,3_prime_UTR_variant,,ENST00000322773,;COL19A1,3_prime_UTR_variant,,ENST00000393344,;	3586	24	22	SUCCESS
CARD11	84433	.	GRCh37	7	2946211	2946211	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1174058099	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	32	66	0	ENST00000396946.4:c.*61G>A			ENST00000396946	NM_032415.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5336.2	.	SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCCAGGGT	NONE	.	.	.	.	.	ENSP00000380150	.	25/25	.	.	.	.	.	.	.	.	.	25/25	nonpreferredpair	ENST00000396946	Transcript	.	.	ENSG00000198286	16393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAR11_HUMAN	CARD11	HGNC	Q8TES3_HUMAN,E2QRC0_HUMAN	.	UPI00003FED38	SNV	CARD11,3_prime_UTR_variant,,ENST00000396946,;	3930	66	76	SUCCESS
NPC1L1	29881	.	GRCh37	7	44553006	44553006	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	79	16	91	0	ENST00000289547.4:c.*40C>G			ENST00000289547	NM_013389.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5491.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGGTTCA	NONE	.	.	.	.	.	ENSP00000289547	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000289547	Transcript	.	.	ENSG00000015520	7898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NPCL1_HUMAN	NPC1L1	HGNC	.	.	UPI000013DF88	SNV	NPC1L1,3_prime_UTR_variant,,ENST00000546276,;NPC1L1,3_prime_UTR_variant,,ENST00000381160,;NPC1L1,3_prime_UTR_variant,,ENST00000289547,;AC004938.5,upstream_gene_variant,,ENST00000438468,;	4176	91	96	SUCCESS
SEMA3A	10371	.	GRCh37	7	83590481	83590481	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	15	0	ENST00000265362.4:c.*206G>A			ENST00000265362	NM_006080.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5599.1	.	MUTECT|MUSE	.	GTTCTCTGTTA	NONE	.	.	.	.	.	ENSP00000265362	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000265362	Transcript	.	.	ENSG00000075213	10723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEM3A_HUMAN	SEMA3A	HGNC	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN	.	UPI0000135A60	SNV	SEMA3A,3_prime_UTR_variant,,ENST00000265362,;SEMA3A,downstream_gene_variant,,ENST00000436949,;	2837	15	15	SUCCESS
E2F5	1875	.	GRCh37	8	86126117	86126117	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	205	25	167	0	ENST00000416274.2:c.*20C>T			ENST00000416274	NM_001083588.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47885.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACTGTTA	NONE	.	.	.	.	.	ENSP00000398124	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000416274	Transcript	.	.	ENSG00000133740	3119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	E2F5_HUMAN	E2F5	HGNC	.	.	UPI000002E057	SNV	E2F5,3_prime_UTR_variant,,ENST00000517476,;E2F5,3_prime_UTR_variant,,ENST00000256117,;E2F5,3_prime_UTR_variant,,ENST00000416274,;E2F5,3_prime_UTR_variant,,ENST00000518234,;E2F5,3_prime_UTR_variant,,ENST00000418930,;E2F5,3_prime_UTR_variant,,ENST00000521429,;E2F5,intron_variant,,ENST00000520225,;C8orf59,downstream_gene_variant,,ENST00000524353,;C8orf59,downstream_gene_variant,,ENST00000417663,;C8orf59,downstream_gene_variant,,ENST00000321777,;C8orf59,downstream_gene_variant,,ENST00000421308,;C8orf59,downstream_gene_variant,,ENST00000518091,;C8orf59,downstream_gene_variant,,ENST00000523281,;C8orf59,downstream_gene_variant,,ENST00000545322,;C8orf59,downstream_gene_variant,,ENST00000518562,;C8orf59,downstream_gene_variant,,ENST00000458398,;C8orf59,downstream_gene_variant,,ENST00000431163,;E2F5,non_coding_transcript_exon_variant,,ENST00000519128,;C8orf59,downstream_gene_variant,,ENST00000520236,;C8orf59,downstream_gene_variant,,ENST00000521286,;C8orf59,downstream_gene_variant,,ENST00000523245,;C8orf59,downstream_gene_variant,,ENST00000518786,;	1095	167	230	SUCCESS
REXO1L1P	254958	.	GRCh37	8	86572219	86572219	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs5016737	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	24	0	ENST00000379010.2:c.*1480C>T			ENST00000379010	NM_172239.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|VARSCANS	.	ATGCGGTAGGC	NONE	.	.	.	.	.	ENSP00000368295	.	1/1	.	.	.	.	.	.	.	.	rs5016737	1/1	nonpreferredpair	ENST00000379010	Transcript	.	.	ENSG00000205176	24660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GOR_HUMAN	REXO1L1P	HGNC	.	.	UPI000057A11F	SNV	REXO1L1P,3_prime_UTR_variant,,ENST00000379010,;REXO1L3P,upstream_gene_variant,,ENST00000608646,;	3508	24	22	SUCCESS
REXO1L1P	254958	.	GRCh37	8	86572723	86572723	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1392643392	.	TCGA-DD-A113-01	TCGA-DD-A113-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	13	0	ENST00000379010.2:c.*976A>C			ENST00000379010	NM_172239.4			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	TGCCTTCATTT	NONE	.	.	.	.	.	ENSP00000368295	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000379010	Transcript	.	.	ENSG00000205176	24660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOR_HUMAN	REXO1L1P	HGNC	.	.	UPI000057A11F	SNV	REXO1L1P,3_prime_UTR_variant,,ENST00000379010,;REXO1L3P,upstream_gene_variant,,ENST00000608646,;	3004	13	20	SUCCESS
SEMA4D	10507	.	GRCh37	9	91991876	91991876	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs773945241	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	79	0				ENST00000356444				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6685.1	.	RADIA|MUTECT|MUSE	.	AGGGGGTCCAG	NONE	byFrequency	.	.	.	.	ENSP00000416523	.	16/16	.	.	.	.	.	.	.	.	rs773945241	16/16	nonpreferredpair	ENST00000450295	Transcript	.	.	ENSG00000187764	10732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEM4D_HUMAN	SEMA4D	HGNC	F5H044_HUMAN,C9JYS7_HUMAN,C9JFP1_HUMAN,C9JD54_HUMAN	.	UPI0000135A6C	SNV	SEMA4D,missense_variant,p.Thr585Asn,ENST00000343780,;SEMA4D,missense_variant,p.Thr585Asn,ENST00000420987,;SEMA4D,missense_variant,p.Thr585Asn,ENST00000339861,;SEMA4D,missense_variant,p.Thr585Asn,ENST00000455551,;SEMA4D,3_prime_UTR_variant,,ENST00000450295,;SEMA4D,downstream_gene_variant,,ENST00000422704,;SEMA4D,downstream_gene_variant,,ENST00000438547,;SEMA4D,downstream_gene_variant,,ENST00000356444,;SEMA4D,non_coding_transcript_exon_variant,,ENST00000492386,;SEMA4D,intron_variant,,ENST00000537934,;SEMA4D,intron_variant,,ENST00000429836,;SEMA4D,downstream_gene_variant,,ENST00000486935,;SEMA4D,downstream_gene_variant,,ENST00000544513,;SEMA4D,downstream_gene_variant,,ENST00000540183,;	5109	79	59	SUCCESS
ZCCHC16	0	.	GRCh37	X	111699130	111699130	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1421654176	.	TCGA-DD-A113-01	TCGA-DD-A113-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	36	132	0	ENST00000340433.2:c.*241C>T			ENST00000340433	NM_001004308.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTCTCCAA	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,3_prime_UTR_variant,,ENST00000340433,;	1404	132	73	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910537	144910537	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-A113-01	TCGA-DD-A113-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	41	241	0				ENST00000370490				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14681.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATGTTTCA	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1610	241	204	SUCCESS
RP11-21L19.1	0	.	GRCh37	11	14280941	14280941	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs782509527	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	73	0				ENST00000534587				0	.	.	.	.	.	G	.	antisense	YES	.	.	RADIA|MUSE|VARSCANS	.	GGCTCCGTGTG	NONE	byFrequency	3451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782509527	.	PASS	ENST00000534587	Transcript	.	.	ENSG00000254418	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-21L19.1	Clone_based_vega_gene	.	.	.	SNV	RP11-21L19.1,downstream_gene_variant,,ENST00000534587,;SPON1,non_coding_transcript_exon_variant,,ENST00000533633,;SPON1,non_coding_transcript_exon_variant,,ENST00000310358,;SPON1,upstream_gene_variant,,ENST00000526298,;	.	73	78	SUCCESS
RP11-113D6.10	0	.	GRCh37	11	18232242	18232242	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	31	0	ENST00000340135.3:c.*538+25C>A			ENST00000340135				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GTTTTCCTTAA	NONE	.	.	.	.	.	ENSP00000342780	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340135	Transcript	.	.	ENSG00000189332	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YK019_HUMAN	RP11-113D6.10	Clone_based_vega_gene	.	.	UPI00001B6518	SNV	RP11-113D6.10,3_prime_UTR_variant,,ENST00000534640,;RP11-113D6.10,intron_variant,,ENST00000527059,;RP11-113D6.10,intron_variant,,ENST00000340135,;	.	31	69	SUCCESS
LUM	4060	.	GRCh37	12	91497878	91497878	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	36	0	ENST00000266718.4:c.*64C>A			ENST00000266718	NM_002345.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9038.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATATGGATAC	NONE	.	.	.	.	.	ENSP00000266718	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,3_prime_UTR_variant,,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,downstream_gene_variant,,ENST00000546642,;	1536	36	38	SUCCESS
GOSR2	9570	.	GRCh37	17	45017921	45017921	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs147434599	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	26	0				ENST00000393456	NM_004287.3	195		0	C:0	C:0	.	C:0	.	T	G/V	protein_coding	YES	CCDS11507.1	584	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGCACCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR21230:SF1,hmmpanther:PTHR21230,PIRSF_domain:PIRSF028865	C:0	C:0.001	ENSP00000225567	C:0.001	7/7	.	.	.	.	.	.	.	.	rs147434599	7/7	PASS	ENST00000225567	Transcript	.	C:0.0002	ENSG00000108433	4431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	C:0	deleterious(0)	.	GOSR2_HUMAN	GOSR2	HGNC	.	.	UPI000002AACF	SNV	GOSR2,missense_variant,p.Gly195Val,ENST00000225567,;GOSR2,intron_variant,,ENST00000439730,;GOSR2,intron_variant,,ENST00000573224,;GOSR2,intron_variant,,ENST00000572403,;GOSR2,downstream_gene_variant,,ENST00000415811,;GOSR2,downstream_gene_variant,,ENST00000393456,;GOSR2,downstream_gene_variant,,ENST00000576910,;GOSR2,downstream_gene_variant,,ENST00000570879,;RP11-156P1.2,intron_variant,,ENST00000571841,;	615	26	49	SUCCESS
CSH1	1442	.	GRCh37	17	61972346	61972346	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	31	135	0	ENST00000316193.8:c.*36C>T			ENST00000316193	NM_001317.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11649.1	.	MUTECT|MUSE|VARSCANS	.	GAGAGGCACTG	NONE	.	.	.	.	.	ENSP00000316416	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000316193	Transcript	.	.	ENSG00000136488	2440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSH_HUMAN	CSH1	HGNC	Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN	.	UPI0000000C48	SNV	CSH1,3_prime_UTR_variant,,ENST00000453363,;CSH1,3_prime_UTR_variant,,ENST00000329882,;CSH1,3_prime_UTR_variant,,ENST00000316193,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;	832	135	199	SUCCESS
CYTH1	9267	.	GRCh37	17	76671945	76671945	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	38	0	ENST00000361101.4:c.*228C>T			ENST00000361101	NM_017456.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42392.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAGGAAGGC	NONE	.	.	.	.	.	ENSP00000354398	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000361101	Transcript	.	.	ENSG00000108669	9501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYH1_HUMAN	CYTH1	HGNC	K7ENH6_HUMAN,K7EKA2_HUMAN,B7Z1T4_HUMAN	.	UPI000000009A	SNV	CYTH1,3_prime_UTR_variant,,ENST00000361101,;CYTH1,3_prime_UTR_variant,,ENST00000589296,;CYTH1,3_prime_UTR_variant,,ENST00000589297,;CYTH1,3_prime_UTR_variant,,ENST00000446868,;CYTH1,3_prime_UTR_variant,,ENST00000591455,;CYTH1,3_prime_UTR_variant,,ENST00000585509,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586175,;CYTH1,downstream_gene_variant,,ENST00000590775,;CYTH1,3_prime_UTR_variant,,ENST00000591574,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586299,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586430,;	1496	38	66	SUCCESS
RPA2	6118	.	GRCh37	1	28218576	28218576	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	76	0	ENST00000373912.3:c.*98G>T			ENST00000373912	NM_002946.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS314.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCCTAGA	NONE	.	.	.	.	.	ENSP00000363021	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000373912	Transcript	.	.	ENSG00000117748	10290	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFA2_HUMAN	RPA2	HGNC	Q5TEJ0_HUMAN,B4DUL2_HUMAN,B4DQD9_HUMAN,B4DL94_HUMAN	.	UPI000013379F	SNV	RPA2,3_prime_UTR_variant,,ENST00000373909,;RPA2,3_prime_UTR_variant,,ENST00000373912,;RPA2,intron_variant,,ENST00000419958,;RPA2,downstream_gene_variant,,ENST00000313433,;RPA2,downstream_gene_variant,,ENST00000444045,;	1211	76	82	SUCCESS
SLC44A5	204962	.	GRCh37	1	75672190	75672190	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	69	0	ENST00000370855.5:c.*102C>T			ENST00000370855	NM_152697.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS667.1	.	MUTECT|MUSE	.	ATTAAGCACAG	NONE	.	.	.	.	.	ENSP00000359892	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,3_prime_UTR_variant,,ENST00000535611,;SLC44A5,3_prime_UTR_variant,,ENST00000370855,;SLC44A5,intron_variant,,ENST00000370859,;	2376	69	104	SUCCESS
MYO7B	4648	.	GRCh37	2	128395020	128395020	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs761115023	.	TCGA-DD-A114-01	TCGA-DD-A114-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	42	0	ENST00000409816.2:c.*28C>A			ENST00000409816				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46405.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCGCCCT	NONE	.	.	.	.	.	ENSP00000415090	.	47/47	.	.	.	.	.	.	.	.	rs761115023	47/47	PASS	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,3_prime_UTR_variant,,ENST00000409816,;MYO7B,3_prime_UTR_variant,,ENST00000389524,;MYO7B,3_prime_UTR_variant,,ENST00000428314,;MYO7B,3_prime_UTR_variant,,ENST00000409090,;LIMS2,downstream_gene_variant,,ENST00000409254,;LIMS2,downstream_gene_variant,,ENST00000410038,;LIMS2,downstream_gene_variant,,ENST00000409455,;LIMS2,downstream_gene_variant,,ENST00000355119,;LIMS2,downstream_gene_variant,,ENST00000409286,;LIMS2,downstream_gene_variant,,ENST00000426981,;LIMS2,downstream_gene_variant,,ENST00000410011,;LIMS2,downstream_gene_variant,,ENST00000324938,;LIMS2,downstream_gene_variant,,ENST00000545738,;LIMS2,downstream_gene_variant,,ENST00000409754,;LIMS2,downstream_gene_variant,,ENST00000409808,;LIMS2,downstream_gene_variant,,ENST00000582671,;LIMS2,downstream_gene_variant,,ENST00000494613,;MYO7B,non_coding_transcript_exon_variant,,ENST00000494959,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;LIMS2,downstream_gene_variant,,ENST00000476932,;LIMS2,downstream_gene_variant,,ENST00000413578,;LIMS2,downstream_gene_variant,,ENST00000466410,;LIMS2,downstream_gene_variant,,ENST00000469300,;LIMS2,downstream_gene_variant,,ENST00000484252,;	6432	42	53	SUCCESS
MLF1	4291	.	GRCh37	3	158323100	158323100	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	32	0	ENST00000355893.5:c.*109G>C			ENST00000355893	NM_022443.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56286.1	.	MUTECT|MUSE	.	CCTTGGCAACT	NONE	.	.	.	.	.	ENSP00000376568	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392822	Transcript	.	.	ENSG00000178053	7125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MLF1_HUMAN	MLF1	HGNC	C9K0D3_HUMAN,C9JNE5_HUMAN	.	UPI000007134A	SNV	MLF1,3_prime_UTR_variant,,ENST00000484955,;MLF1,3_prime_UTR_variant,,ENST00000478894,;MLF1,3_prime_UTR_variant,,ENST00000355893,;MLF1,3_prime_UTR_variant,,ENST00000469452,;MLF1,3_prime_UTR_variant,,ENST00000392822,;MLF1,3_prime_UTR_variant,,ENST00000471745,;MLF1,3_prime_UTR_variant,,ENST00000359117,;MLF1,downstream_gene_variant,,ENST00000491767,;MLF1,downstream_gene_variant,,ENST00000482628,;MLF1,downstream_gene_variant,,ENST00000498592,;MLF1,non_coding_transcript_exon_variant,,ENST00000497004,;MTAPP1,downstream_gene_variant,,ENST00000489154,;	1276	32	35	SUCCESS
ZKSCAN8	7745	.	GRCh37	6	28122535	28122535	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	13	0	ENST00000330236.6:c.*740A>G			ENST00000330236	NM_001278122.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4645.1	.	RADIA|SOMATICSNIPER	.	TTAGTAATGGT	NONE	.	.	.	.	.	ENSP00000332750	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330236	Transcript	.	.	ENSG00000198315	12983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZKSC8_HUMAN	ZKSCAN8	HGNC	.	.	UPI000013D073	SNV	ZKSCAN8,3_prime_UTR_variant,,ENST00000330236,;ZKSCAN8,downstream_gene_variant,,ENST00000457389,;ZKSCAN8,downstream_gene_variant,,ENST00000606198,;ZKSCAN8,downstream_gene_variant,,ENST00000536028,;	2661	13	14	SUCCESS
HLA-B	3106	.	GRCh37	6	31322048	31322048	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	36	212	0	ENST00000412585.2:c.*30C>A			ENST00000412585	NM_005514.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34394.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGTCCCT	NONE	.	.	.	.	.	ENSP00000399168	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000412585	Transcript	.	.	ENSG00000234745	4932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	1B73_HUMAN,1B07_HUMAN,1B42_HUMAN,1B67_HUMAN,1B81_HUMAN,1B48_HUMAN	HLA-B	HGNC	T1R372_HUMAN,R4QQU0_HUMAN,N0A4A9_HUMAN,N0A0K3_HUMAN,M9XMA8_HUMAN,M9PAL2_HUMAN,M9P9U8_HUMAN,M9P9C4_HUMAN,M9P9A4_HUMAN,M9P990_HUMAN,M9P8G8_HUMAN,M1FXF1_HUMAN,M1FWX2_HUMAN,M1F4D0_HUMAN,E5FQ95_HUMAN,Q9UIP1_HUMAN,Q9TQC5_HUMAN,Q9TQC2_HUMAN,Q9TPU4_HUMAN,Q9GIM0_HUMAN,Q95IE1_HUMAN,Q95HL7_HUMAN,Q8SP64_HUMAN,Q8HWQ3_HUMAN,Q861E5_HUMAN,Q861D6_HUMAN,Q861D4_HUMAN,Q7YP17_HUMAN,Q7YNX2_HUMAN,Q7JGR7_HUMAN,Q710M8_HUMAN,Q710M7_HUMAN,Q70HJ6_HUMAN,Q709M5_HUMAN,Q6ZXT6_HUMAN,Q5QR88_HUMAN,Q5QR87_HUMAN,Q5QR86_HUMAN,Q5QR85_HUMAN,Q5QR84_HUMAN,Q5QR83_HUMAN,Q5QR76_HUMAN,Q5QR73_HUMAN,Q5QR69_HUMAN,Q5QR62_HUMAN,Q5QR60_HUMAN,Q5QR59_HUMAN,Q5QR58_HUMAN,Q5QR57_HUMAN,Q5QR48_HUMAN,Q5QR47_HUMAN,Q5QR46_HUMAN,Q5QR36_HUMAN,Q5QR34_HUMAN,Q5QR33_HUMAN,Q5QR31_HUMAN,Q5F311_HUMAN,Q53ZP0_HUMAN,Q29923_HUMAN,Q29843_HUMAN,Q256S0_HUMAN,O19782_HUMAN,O19746_HUMAN,O19644_HUMAN,O19638_HUMAN,O19563_HUMAN,L0RH50_HUMAN,L0BXM2_HUMAN,K9LCN4_HUMAN,K9L8E6_HUMAN,K7QT39_HUMAN,K7P5R9_HUMAN,K4JQY2_HUMAN,J9UP90_HUMAN,J9PWQ9_HUMAN,J9PW07_HUMAN,J7K017_HUMAN,J7F682_HUMAN,J7F577_HUMAN,I7A4E3_HUMAN,I6TRW4_HUMAN,I6RCX9_HUMAN,I6NXG0_HUMAN,I6NWI0_HUMAN,I6NVS4_HUMAN,I4EC43_HUMAN,I3VZ13_HUMAN,I3UI65_HUMAN,I3QHR8_HUMAN,I2B2Z4_HUMAN,I2B2W6_HUMAN,H9C5J4_HUMAN,H9BQ86_HUMAN,H9BQ83_HUMAN,H9BQ82_HUMAN,G9I2L1_HUMAN,G3D6I7_HUMAN,G1EPU3_HUMAN,G1EPN0_HUMAN,G1EPJ1_HUMAN,G1ENJ6_HUMAN,G1ENJ0_HUMAN,G1EMP0_HUMAN,G1EMK6_HUMAN,G0ZMJ0_HUMAN,G0ZMH5_HUMAN,G0Z8C9_HUMAN,G0WVB6_HUMAN,F8SKV9_HUMAN,F8RHF3_HUMAN,F6KRS1_HUMAN,F6KRR7_HUMAN,F6KRQ7_HUMAN,F4YU56_HUMAN,F4YTC4_HUMAN,F4NBP2_HUMAN,F4NBP0_HUMAN,F2X5W5_HUMAN,F2X5T3_HUMAN,F2VNN2_HUMAN,E9LY38_HUMAN,E7BYA5_HUMAN,E3SWI1_HUMAN,E3SWH9_HUMAN,E2GJN0_HUMAN,E2DH92_HUMAN,E2D5Q2_HUMAN,E2D5P9_HUMAN,E2D5N8_HUMAN,D9U3G7_HUMAN,D7NSR4_HUMAN,D5L9C9_HUMAN,D5FWA6_HUMAN,D5FI14_HUMAN,D5FHY1_HUMAN,D5FHV8_HUMAN,D5FHU6_HUMAN,D4HPL2_HUMAN,D4HPB9_HUMAN,D4HPB2_HUMAN,D4HP81_HUMAN,D3Y5Y4_HUMAN,D3U4B8_HUMAN,D2DL25_HUMAN,D2DKQ8_HUMAN,D2DKN8_HUMAN,D2DKN6_HUMAN,D2DKF7_HUMAN,D2DKF6_HUMAN,C9WEP9_HUMAN,C9WEN6_HUMAN,C9WD06_HUMAN,C9WCZ5_HUMAN,C9WCQ2_HUMAN,C9E1H2_HUMAN,C8CH80_HUMAN,C8CAX9_HUMAN,C7FDQ9_HUMAN,C6L830_HUMAN,C5JA70_HUMAN,C3VIU8_HUMAN,B9VWB1_HUMAN,B4DUK6_HUMAN,B2YG95_HUMAN,A7E1C3_HUMAN,A5PHP5_HUMAN,A2VC07_HUMAN	.	UPI0000000B17	SNV	HLA-B,3_prime_UTR_variant,,ENST00000412585,;HLA-B,downstream_gene_variant,,ENST00000434333,;HLA-B,non_coding_transcript_exon_variant,,ENST00000481849,;HLA-B,non_coding_transcript_exon_variant,,ENST00000497377,;HLA-B,downstream_gene_variant,,ENST00000463574,;HLA-B,downstream_gene_variant,,ENST00000498007,;HLA-B,downstream_gene_variant,,ENST00000474381,;XXbac-BPG248L24.12,upstream_gene_variant,,ENST00000603274,;	1148	212	286	SUCCESS
FAM122A	0	.	GRCh37	9	71396609	71396609	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	33	0	ENST00000394264.3:c.*665A>T			ENST00000394264	NM_138333.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6623.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGTAATTCT	NONE	.	.	.	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,3_prime_UTR_variant,,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	1646	33	76	SUCCESS
VCX3A	51481	.	GRCh37	X	6451682	6451682	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs747137226	.	TCGA-DD-A114-01	TCGA-DD-A114-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	70	295	0	ENST00000381089.3:c.*104T>A			ENST00000381089	NM_016379.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35199.1	.	MUSE|VARSCANS	.	ATTTTATTATC	NONE	.	.	.	.	.	ENSP00000370479	.	3/3	.	.	.	.	.	.	.	.	rs747137226	3/3	PASS	ENST00000381089	Transcript	.	.	ENSG00000169059	18159	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VCX3_HUMAN	VCX3A	HGNC	.	.	UPI0000138292	SNV	VCX3A,3_prime_UTR_variant,,ENST00000381089,;VCX3A,downstream_gene_variant,,ENST00000398729,;	972	296	362	SUCCESS
RP11-21L19.1	0	.	GRCh37	11	14280941	14280941	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs782509527	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	9	88	0				ENST00000534587				0	.	.	.	.	.	G	.	antisense	YES	.	.	RADIA|MUSE|VARSCANS	.	GGCTCCGTGTG	NONE	byFrequency	3451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782509527	.	nonpreferredpair	ENST00000534587	Transcript	.	.	ENSG00000254418	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-21L19.1	Clone_based_vega_gene	.	.	.	SNV	RP11-21L19.1,downstream_gene_variant,,ENST00000534587,;SPON1,non_coding_transcript_exon_variant,,ENST00000533633,;SPON1,non_coding_transcript_exon_variant,,ENST00000310358,;SPON1,upstream_gene_variant,,ENST00000526298,;	.	88	78	SUCCESS
RP11-113D6.10	0	.	GRCh37	11	18232242	18232242	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	10	66	0	ENST00000340135.3:c.*538+25C>A			ENST00000340135				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GTTTTCCTTAA	NONE	.	.	.	.	.	ENSP00000342780	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000340135	Transcript	.	.	ENSG00000189332	.	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YK019_HUMAN	RP11-113D6.10	Clone_based_vega_gene	.	.	UPI00001B6518	SNV	RP11-113D6.10,3_prime_UTR_variant,,ENST00000534640,;RP11-113D6.10,intron_variant,,ENST00000527059,;RP11-113D6.10,intron_variant,,ENST00000340135,;	.	66	69	SUCCESS
LUM	4060	.	GRCh37	12	91497878	91497878	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	58	0	ENST00000266718.4:c.*64C>A			ENST00000266718	NM_002345.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9038.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATGGATAC	NONE	.	.	.	.	.	ENSP00000266718	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,3_prime_UTR_variant,,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,downstream_gene_variant,,ENST00000546642,;	1536	58	38	SUCCESS
GOSR2	9570	.	GRCh37	17	45017921	45017921	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs147434599	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	16	29	0				ENST00000393456	NM_004287.3	195		0	C:0	C:0	.	C:0	.	T	G/V	protein_coding	YES	CCDS11507.1	584	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGCACCC	NONE	byCluster|by1000G	.	hmmpanther:PTHR21230:SF1,hmmpanther:PTHR21230,PIRSF_domain:PIRSF028865	C:0	C:0.001	ENSP00000225567	C:0.001	7/7	.	.	.	.	.	.	.	.	rs147434599	7/7	nonpreferredpair	ENST00000225567	Transcript	.	C:0.0002	ENSG00000108433	4431	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.077)	C:0	deleterious(0)	.	GOSR2_HUMAN	GOSR2	HGNC	.	.	UPI000002AACF	SNV	GOSR2,missense_variant,p.Gly195Val,ENST00000225567,;GOSR2,intron_variant,,ENST00000439730,;GOSR2,intron_variant,,ENST00000573224,;GOSR2,intron_variant,,ENST00000572403,;GOSR2,downstream_gene_variant,,ENST00000415811,;GOSR2,downstream_gene_variant,,ENST00000393456,;GOSR2,downstream_gene_variant,,ENST00000576910,;GOSR2,downstream_gene_variant,,ENST00000570879,;RP11-156P1.2,intron_variant,,ENST00000571841,;	615	29	49	SUCCESS
CSH1	1442	.	GRCh37	17	61972346	61972346	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	168	31	225	0	ENST00000316193.8:c.*36C>T			ENST00000316193	NM_001317.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11649.1	.	MUTECT|MUSE|VARSCANS	.	GAGAGGCACTG	NONE	.	.	.	.	.	ENSP00000316416	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000316193	Transcript	.	.	ENSG00000136488	2440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CSH_HUMAN	CSH1	HGNC	Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN	.	UPI0000000C48	SNV	CSH1,3_prime_UTR_variant,,ENST00000453363,;CSH1,3_prime_UTR_variant,,ENST00000329882,;CSH1,3_prime_UTR_variant,,ENST00000316193,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;	832	225	199	SUCCESS
CYTH1	9267	.	GRCh37	17	76671945	76671945	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	13	37	0	ENST00000361101.4:c.*228C>T			ENST00000361101	NM_017456.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42392.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGGAAGGC	NONE	.	.	.	.	.	ENSP00000354398	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000361101	Transcript	.	.	ENSG00000108669	9501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYH1_HUMAN	CYTH1	HGNC	K7ENH6_HUMAN,K7EKA2_HUMAN,B7Z1T4_HUMAN	.	UPI000000009A	SNV	CYTH1,3_prime_UTR_variant,,ENST00000361101,;CYTH1,3_prime_UTR_variant,,ENST00000589296,;CYTH1,3_prime_UTR_variant,,ENST00000589297,;CYTH1,3_prime_UTR_variant,,ENST00000446868,;CYTH1,3_prime_UTR_variant,,ENST00000591455,;CYTH1,3_prime_UTR_variant,,ENST00000585509,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586175,;CYTH1,downstream_gene_variant,,ENST00000590775,;CYTH1,3_prime_UTR_variant,,ENST00000591574,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586299,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586430,;	1496	37	66	SUCCESS
RPA2	6118	.	GRCh37	1	28218576	28218576	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	10	85	0	ENST00000373912.3:c.*98G>T			ENST00000373912	NM_002946.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS314.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACTTCCTAGA	NONE	.	.	.	.	.	ENSP00000363021	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000373912	Transcript	.	.	ENSG00000117748	10290	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RFA2_HUMAN	RPA2	HGNC	Q5TEJ0_HUMAN,B4DUL2_HUMAN,B4DQD9_HUMAN,B4DL94_HUMAN	.	UPI000013379F	SNV	RPA2,3_prime_UTR_variant,,ENST00000373909,;RPA2,3_prime_UTR_variant,,ENST00000373912,;RPA2,intron_variant,,ENST00000419958,;RPA2,downstream_gene_variant,,ENST00000313433,;RPA2,downstream_gene_variant,,ENST00000444045,;	1211	85	82	SUCCESS
SLC44A5	204962	.	GRCh37	1	75672190	75672190	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	20	103	0	ENST00000370855.5:c.*102C>T			ENST00000370855	NM_152697.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS667.1	.	MUTECT|MUSE	.	ATTAAGCACAG	NONE	.	.	.	.	.	ENSP00000359892	.	24/24	.	.	.	.	.	.	.	.	.	24/24	nonpreferredpair	ENST00000370855	Transcript	.	.	ENSG00000137968	28524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTL5_HUMAN	SLC44A5	HGNC	B7Z473_HUMAN	.	UPI000013E195	SNV	SLC44A5,3_prime_UTR_variant,,ENST00000535611,;SLC44A5,3_prime_UTR_variant,,ENST00000370855,;SLC44A5,intron_variant,,ENST00000370859,;	2376	103	104	SUCCESS
MYO7B	4648	.	GRCh37	2	128395020	128395020	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs761115023	.	TCGA-DD-A114-01	TCGA-DD-A114-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	65	0	ENST00000409816.2:c.*28C>A			ENST00000409816				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46405.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGCGCCCT	NONE	.	.	.	.	.	ENSP00000415090	.	47/47	.	.	.	.	.	.	.	.	rs761115023	47/47	nonpreferredpair	ENST00000428314	Transcript	.	.	ENSG00000169994	7607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO7B_HUMAN	MYO7B	HGNC	C9JC21_HUMAN,B9A063_HUMAN	.	UPI00006C04F0	SNV	MYO7B,3_prime_UTR_variant,,ENST00000409816,;MYO7B,3_prime_UTR_variant,,ENST00000389524,;MYO7B,3_prime_UTR_variant,,ENST00000428314,;MYO7B,3_prime_UTR_variant,,ENST00000409090,;LIMS2,downstream_gene_variant,,ENST00000409254,;LIMS2,downstream_gene_variant,,ENST00000410038,;LIMS2,downstream_gene_variant,,ENST00000409455,;LIMS2,downstream_gene_variant,,ENST00000355119,;LIMS2,downstream_gene_variant,,ENST00000409286,;LIMS2,downstream_gene_variant,,ENST00000426981,;LIMS2,downstream_gene_variant,,ENST00000410011,;LIMS2,downstream_gene_variant,,ENST00000324938,;LIMS2,downstream_gene_variant,,ENST00000545738,;LIMS2,downstream_gene_variant,,ENST00000409754,;LIMS2,downstream_gene_variant,,ENST00000409808,;LIMS2,downstream_gene_variant,,ENST00000582671,;LIMS2,downstream_gene_variant,,ENST00000494613,;MYO7B,non_coding_transcript_exon_variant,,ENST00000494959,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;LIMS2,downstream_gene_variant,,ENST00000476932,;LIMS2,downstream_gene_variant,,ENST00000413578,;LIMS2,downstream_gene_variant,,ENST00000466410,;LIMS2,downstream_gene_variant,,ENST00000469300,;LIMS2,downstream_gene_variant,,ENST00000484252,;	6432	65	53	SUCCESS
MLF1	4291	.	GRCh37	3	158323100	158323100	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	69	0	ENST00000355893.5:c.*109G>C			ENST00000355893	NM_022443.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56286.1	.	MUTECT|MUSE	.	CCTTGGCAACT	NONE	.	.	.	.	.	ENSP00000376568	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000392822	Transcript	.	.	ENSG00000178053	7125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MLF1_HUMAN	MLF1	HGNC	C9K0D3_HUMAN,C9JNE5_HUMAN	.	UPI000007134A	SNV	MLF1,3_prime_UTR_variant,,ENST00000484955,;MLF1,3_prime_UTR_variant,,ENST00000478894,;MLF1,3_prime_UTR_variant,,ENST00000355893,;MLF1,3_prime_UTR_variant,,ENST00000469452,;MLF1,3_prime_UTR_variant,,ENST00000392822,;MLF1,3_prime_UTR_variant,,ENST00000471745,;MLF1,3_prime_UTR_variant,,ENST00000359117,;MLF1,downstream_gene_variant,,ENST00000491767,;MLF1,downstream_gene_variant,,ENST00000482628,;MLF1,downstream_gene_variant,,ENST00000498592,;MLF1,non_coding_transcript_exon_variant,,ENST00000497004,;MTAPP1,downstream_gene_variant,,ENST00000489154,;	1276	69	35	SUCCESS
HLA-B	3106	.	GRCh37	6	31322048	31322048	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	250	36	212	0	ENST00000412585.2:c.*30C>A			ENST00000412585	NM_005514.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34394.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGTCCCT	NONE	.	.	.	.	.	ENSP00000399168	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000412585	Transcript	.	.	ENSG00000234745	4932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	1B73_HUMAN,1B07_HUMAN,1B42_HUMAN,1B67_HUMAN,1B81_HUMAN,1B48_HUMAN	HLA-B	HGNC	T1R372_HUMAN,R4QQU0_HUMAN,N0A4A9_HUMAN,N0A0K3_HUMAN,M9XMA8_HUMAN,M9PAL2_HUMAN,M9P9U8_HUMAN,M9P9C4_HUMAN,M9P9A4_HUMAN,M9P990_HUMAN,M9P8G8_HUMAN,M1FXF1_HUMAN,M1FWX2_HUMAN,M1F4D0_HUMAN,E5FQ95_HUMAN,Q9UIP1_HUMAN,Q9TQC5_HUMAN,Q9TQC2_HUMAN,Q9TPU4_HUMAN,Q9GIM0_HUMAN,Q95IE1_HUMAN,Q95HL7_HUMAN,Q8SP64_HUMAN,Q8HWQ3_HUMAN,Q861E5_HUMAN,Q861D6_HUMAN,Q861D4_HUMAN,Q7YP17_HUMAN,Q7YNX2_HUMAN,Q7JGR7_HUMAN,Q710M8_HUMAN,Q710M7_HUMAN,Q70HJ6_HUMAN,Q709M5_HUMAN,Q6ZXT6_HUMAN,Q5QR88_HUMAN,Q5QR87_HUMAN,Q5QR86_HUMAN,Q5QR85_HUMAN,Q5QR84_HUMAN,Q5QR83_HUMAN,Q5QR76_HUMAN,Q5QR73_HUMAN,Q5QR69_HUMAN,Q5QR62_HUMAN,Q5QR60_HUMAN,Q5QR59_HUMAN,Q5QR58_HUMAN,Q5QR57_HUMAN,Q5QR48_HUMAN,Q5QR47_HUMAN,Q5QR46_HUMAN,Q5QR36_HUMAN,Q5QR34_HUMAN,Q5QR33_HUMAN,Q5QR31_HUMAN,Q5F311_HUMAN,Q53ZP0_HUMAN,Q29923_HUMAN,Q29843_HUMAN,Q256S0_HUMAN,O19782_HUMAN,O19746_HUMAN,O19644_HUMAN,O19638_HUMAN,O19563_HUMAN,L0RH50_HUMAN,L0BXM2_HUMAN,K9LCN4_HUMAN,K9L8E6_HUMAN,K7QT39_HUMAN,K7P5R9_HUMAN,K4JQY2_HUMAN,J9UP90_HUMAN,J9PWQ9_HUMAN,J9PW07_HUMAN,J7K017_HUMAN,J7F682_HUMAN,J7F577_HUMAN,I7A4E3_HUMAN,I6TRW4_HUMAN,I6RCX9_HUMAN,I6NXG0_HUMAN,I6NWI0_HUMAN,I6NVS4_HUMAN,I4EC43_HUMAN,I3VZ13_HUMAN,I3UI65_HUMAN,I3QHR8_HUMAN,I2B2Z4_HUMAN,I2B2W6_HUMAN,H9C5J4_HUMAN,H9BQ86_HUMAN,H9BQ83_HUMAN,H9BQ82_HUMAN,G9I2L1_HUMAN,G3D6I7_HUMAN,G1EPU3_HUMAN,G1EPN0_HUMAN,G1EPJ1_HUMAN,G1ENJ6_HUMAN,G1ENJ0_HUMAN,G1EMP0_HUMAN,G1EMK6_HUMAN,G0ZMJ0_HUMAN,G0ZMH5_HUMAN,G0Z8C9_HUMAN,G0WVB6_HUMAN,F8SKV9_HUMAN,F8RHF3_HUMAN,F6KRS1_HUMAN,F6KRR7_HUMAN,F6KRQ7_HUMAN,F4YU56_HUMAN,F4YTC4_HUMAN,F4NBP2_HUMAN,F4NBP0_HUMAN,F2X5W5_HUMAN,F2X5T3_HUMAN,F2VNN2_HUMAN,E9LY38_HUMAN,E7BYA5_HUMAN,E3SWI1_HUMAN,E3SWH9_HUMAN,E2GJN0_HUMAN,E2DH92_HUMAN,E2D5Q2_HUMAN,E2D5P9_HUMAN,E2D5N8_HUMAN,D9U3G7_HUMAN,D7NSR4_HUMAN,D5L9C9_HUMAN,D5FWA6_HUMAN,D5FI14_HUMAN,D5FHY1_HUMAN,D5FHV8_HUMAN,D5FHU6_HUMAN,D4HPL2_HUMAN,D4HPB9_HUMAN,D4HPB2_HUMAN,D4HP81_HUMAN,D3Y5Y4_HUMAN,D3U4B8_HUMAN,D2DL25_HUMAN,D2DKQ8_HUMAN,D2DKN8_HUMAN,D2DKN6_HUMAN,D2DKF7_HUMAN,D2DKF6_HUMAN,C9WEP9_HUMAN,C9WEN6_HUMAN,C9WD06_HUMAN,C9WCZ5_HUMAN,C9WCQ2_HUMAN,C9E1H2_HUMAN,C8CH80_HUMAN,C8CAX9_HUMAN,C7FDQ9_HUMAN,C6L830_HUMAN,C5JA70_HUMAN,C3VIU8_HUMAN,B9VWB1_HUMAN,B4DUK6_HUMAN,B2YG95_HUMAN,A7E1C3_HUMAN,A5PHP5_HUMAN,A2VC07_HUMAN	.	UPI0000000B17	SNV	HLA-B,3_prime_UTR_variant,,ENST00000412585,;HLA-B,downstream_gene_variant,,ENST00000434333,;HLA-B,non_coding_transcript_exon_variant,,ENST00000481849,;HLA-B,non_coding_transcript_exon_variant,,ENST00000497377,;HLA-B,downstream_gene_variant,,ENST00000463574,;HLA-B,downstream_gene_variant,,ENST00000498007,;HLA-B,downstream_gene_variant,,ENST00000474381,;XXbac-BPG248L24.12,upstream_gene_variant,,ENST00000603274,;	1148	212	286	SUCCESS
FAM122A	0	.	GRCh37	9	71396609	71396609	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	15	59	0	ENST00000394264.3:c.*665A>T			ENST00000394264	NM_138333.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6623.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTAATTCT	NONE	.	.	.	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,3_prime_UTR_variant,,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	1646	59	76	SUCCESS
VCX3A	51481	.	GRCh37	X	6451682	6451682	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs747137226	.	TCGA-DD-A114-01	TCGA-DD-A114-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	292	70	367	0	ENST00000381089.3:c.*104T>A			ENST00000381089	NM_016379.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35199.1	.	MUSE|VARSCANS	.	ATTTTATTATC	NONE	.	.	.	.	.	ENSP00000370479	.	3/3	.	.	.	.	.	.	.	.	rs747137226	3/3	nonpreferredpair	ENST00000381089	Transcript	.	.	ENSG00000169059	18159	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VCX3_HUMAN	VCX3A	HGNC	.	.	UPI0000138292	SNV	VCX3A,3_prime_UTR_variant,,ENST00000381089,;VCX3A,downstream_gene_variant,,ENST00000398729,;	972	367	362	SUCCESS
DNA2	1763	.	GRCh37	10	70231709	70231709	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs370115630	.	TCGA-DD-A115-01	TCGA-DD-A115-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	41	0				ENST00000358410	NM_001080449.2	57		0	C:0.0003	.	.	.	.	G	A	protein_coding	YES	.	171	RADIA|VARSCANS	.	GCGCGAGCCTG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000382133	.	1/21	.	.	.	.	.	.	.	.	rs370115630	1/21	PASS	ENST00000399180	Transcript	1	.	ENSG00000138346	2939	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,synonymous_variant,p.%3D,ENST00000399180,;DNA2,5_prime_UTR_variant,,ENST00000399179,;DNA2,upstream_gene_variant,,ENST00000358410,;DNA2,upstream_gene_variant,,ENST00000551118,;DNA2,upstream_gene_variant,,ENST00000550357,;	171	41	36	SUCCESS
OR51A2	0	.	GRCh37	11	4968139	4976752	-1	frameshift_variant	Frame_Shift_Del	DEL	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	468	118	1120	0				ENST00000380371	.		.		.	.	.	.	.	-	.	protein_coding	YES	CCDS31368.1	192-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAAAGAAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGAAAATA	BUFFER|p.S167N|c.500G>A|3,BUFFER|p.F150F|c.450C>T|3,BUFFER|p.N130N|c.390T>C|4,BUFFER|p.A91A|c.273C>T|3	.	.	.	.	.	ENSP00000369729	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380371	Transcript	.	.	ENSG00000205496	14764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O51A2_HUMAN	OR51A2	HGNC	.	.	UPI0000041B7B	deletion	OR51A2,coding_sequence_variant,,ENST00000380371,;OR51A4,coding_sequence_variant,,ENST00000380373,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	192-?	1120	586	FAILED
INCENP	3619	.	GRCh37	11	61919460	61919460	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs756479179	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	12	0	ENST00000394818.3:c.*12G>T			ENST00000394818	NM_001040694.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44624.1	.	RADIA|MUTECT|MUSE	.	CCTGCGGCCTT	NONE	byFrequency	.	.	.	.	ENSP00000378295	.	19/19	.	.	.	.	.	.	.	.	rs756479179	19/19	PASS	ENST00000394818	Transcript	.	.	ENSG00000149503	6058	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INCE_HUMAN	INCENP	HGNC	E9PM67_HUMAN	.	UPI0000D7D6F3	SNV	INCENP,3_prime_UTR_variant,,ENST00000278849,;INCENP,3_prime_UTR_variant,,ENST00000394818,;INCENP,upstream_gene_variant,,ENST00000531099,;	2971	12	10	SUCCESS
CDKN1B	1027	.	GRCh37	12	12871889	12871889	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	36	0	ENST00000228872.4:c.*8+1G>A			ENST00000228872	NM_004064.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8653.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTCGGTGGGT	NONE	.	.	.	.	.	ENSP00000228872	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000228872	Transcript	.	.	ENSG00000111276	1785	.	.	HIGH	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDN1B_HUMAN	CDKN1B	HGNC	Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN	.	UPI0000035C92	SNV	CDKN1B,splice_donor_variant,,ENST00000228872,;CDKN1B,splice_donor_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000396340,;RP11-180M15.4,downstream_gene_variant,,ENST00000542291,;CDKN1B,splice_donor_variant,,ENST00000477087,;	.	36	29	SUCCESS
SMEK1	0	.	GRCh37	14	91925046	91925046	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	109	0	ENST00000554943.1:c.*57C>T			ENST00000554943				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9895.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGGAGGG	NONE	.	.	.	.	.	ENSP00000450864	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,3_prime_UTR_variant,,ENST00000554684,;SMEK1,3_prime_UTR_variant,,ENST00000555462,;SMEK1,3_prime_UTR_variant,,ENST00000428424,;SMEK1,3_prime_UTR_variant,,ENST00000337238,;SMEK1,3_prime_UTR_variant,,ENST00000554943,;SMEK1,downstream_gene_variant,,ENST00000555718,;SMEK1,non_coding_transcript_exon_variant,,ENST00000557382,;SMEK1,downstream_gene_variant,,ENST00000554308,;SMEK1,downstream_gene_variant,,ENST00000554390,;	3017	109	64	SUCCESS
IKBKAP	0	.	GRCh37	9	111631196	111631196	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	17	0	ENST00000374647.5:c.*199G>T			ENST00000374647	NM_003640.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6773.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCTAATG	NONE	.	.	.	.	.	ENSP00000363779	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000374647	Transcript	.	.	ENSG00000070061	5959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELP1_HUMAN	IKBKAP	HGNC	Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN	.	UPI000013D2D0	SNV	IKBKAP,3_prime_UTR_variant,,ENST00000537196,;IKBKAP,3_prime_UTR_variant,,ENST00000374647,;IKBKAP,3_prime_UTR_variant,,ENST00000495759,;	4506	17	17	SUCCESS
S1PR3	1903	.	GRCh37	9	91617770	91617770	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	170	0	ENST00000358157.2:c.*518C>T			ENST00000358157	NM_005226.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6680.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCCAGTA	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	6350	170	93	SUCCESS
DNA2	1763	.	GRCh37	10	70231709	70231709	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs370115630	.	TCGA-DD-A115-01	TCGA-DD-A115-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	57	0				ENST00000358410	NM_001080449.2	57		0	C:0.0003	.	.	.	.	G	A	protein_coding	YES	.	171	RADIA|VARSCANS	.	GCGCGAGCCTG	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000382133	.	1/21	.	.	.	.	.	.	.	.	rs370115630	1/21	nonpreferredpair	ENST00000399180	Transcript	1	.	ENSG00000138346	2939	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DNA2	HGNC	J3KPX5_HUMAN	.	UPI00001D80EF	SNV	DNA2,synonymous_variant,p.%3D,ENST00000399180,;DNA2,5_prime_UTR_variant,,ENST00000399179,;DNA2,upstream_gene_variant,,ENST00000358410,;DNA2,upstream_gene_variant,,ENST00000551118,;DNA2,upstream_gene_variant,,ENST00000550357,;	171	57	36	SUCCESS
OR51A2	0	.	GRCh37	11	4968139	4976752	-1	coding_sequence_variant	Missense_Mutation	DEL	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	-	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	AAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	468	118	1006	0				ENST00000380371	.		.		.	.	.	.	.	-	.	protein_coding	YES	CCDS31368.1	192-?	INDELOCATOR*|VARSCANI*|PINDEL	.	GGAAAGAAAATAGTACATGGGCTCATGCAAGGAGGGCTCTGTCTTGATGATAAAAAGAATGGTGCCATTTCCTAGAATAGCAATAAGATACATGCTGCAGATGGGGATAGAGATCCAGATGTGTGCATATTCTAGCCCTGGCATCCCAACCAAGAAGAAGGTGGTGATTTCAACATATGATGTGTTGATAATGGACATGATTCATTCATAGGGCTCTGCTATGAAAAATACAGATGCTTGTGTTGGTAAAATAGGAATATCTGTAAATTTAGTAGAAAAAAAGCAGTGTTAAAATTTGTGGCTTCTTTCAGCTTTCTTTTGAGAGAACAAAGCATTTATGTGGCTATCATCATGAAGAGAGATGGTTGGTTGCTGCTTTGGACTATAATCTGTCGTATAATACATTGGAAAAATTATTTCTGGACATGTTATTTCTATAGAGAATCCAGATTTAAATTTTGTATTTAGTTACGCATCTGATTTCATTTTTTCCTGTAAAATATTAGTAAACGCTGGTCAATTAACTGGAATCTTCTATTTCTTGCTCTCAGATCTATGTTCTGACCTTCAGTTCTATGTGATTAATTGCCAGTAATAATAGTCAAATGAAAGCTAAATAAATGAGAATACCTGGGTACTTACCAGTAAGTGGATATGTTTGTAAGCACTTTTGATAAAAGCTAAATAATTCTGATATACAAACCCAAGGTATTGTTGAACTTGTCCACCACAAAAGACTCCTCTTATATATAAGGGCTTGTCTTATTCTTTCTACCTAACCACTGGCTCTGGGATTACTGAGTTCTCTGGGGATTGCAGCAAGGCTAGATTTTGTCTGACAATAAGAATAAACATTTGCAGATGCAGTAAATCTACAGAGATGGTTGATACCAAGGAAACAAACATCTAGGTCTGTAATAAGGAACAATTTTGTTGGAGAGGTCTTTAATTGCCTGGTATTAGATAGACATGGTAAATTATCTGCAAAACTAGGATACTTCTGATGGATAGTTGGCTTGTGTATTACTCGTCTGCACAAGGCCAAGTCTAAGCAGAGATGCTGTGAGTTGATTCTGTATTCAAGGAAGTGTTGCAGGACAAACATCCTAGGACATAATGTGTTATCCTAGATTTTATTCCTGAATCCTGGATCCATCTCCCCAGACCCATTAGACATCACTAATTAAATATCCTTAAAACCAACTTGTCCAACTTATACAAGTTTTTCTCCCTTACCAAATCTTCCCTGTTTAAGGGACCTACTTCGGTAATAAGACTTTATGTTTAAGAATCTACAAGCCAAAAATCTGAGCTTCTTTGTCTTACACACAATAATGACCAATATTTCTTAGAAAATTAAATTGTTTTACTTACTGAGTTCCATTACCAGATGATGATTTGGAATCTTGAAATTTTTTAAATAATATTATCAAGTTATATCATTATCTTCATTTTACTGATGAAGAAAATTTTTCTCAAGATGAAGTCTTCTGTTTAAGATCACAGAAGTGTTGTAGGGTAGAGGTAAGATAGCAACTCAGGTCTGTTATATTACTGATAATTAAGTATATAGCACGCTATCAGGTTTGCCAAGCAATATTTAAGGAGTTATGAACTGAATGTACAGCTGGAATTGTGTATTATTTTTAGCATTCTAAACTGACTACTAGTTGATTCTAGTGGATAAGATGAAACATTTGGTCCTACAGTTGCAAATCTTTGCAACAGTGAAAATCATGCTAGTATAGAGATCCTAAGGAAAAGGCTCTTGAGGAGAAAAAAACTATATACTCACCTCTATTAGTAAATAGTCATTGGAAGGATTTCAATATTTACTTGACTAAAGAGTGGAAATATAAGAATGTATTACCATAACCTTCCCATAAATTCTTTTAAACTATGTGATGATTACTTCTTAGTTGCCAATTGCCTACTGTTTGCATCCCCAATGAAAATAAGCCCCACTTGGTTATGTTGTCAAGAATTCTCTCCTTCCACTGTTGCTTTTTCTCTTAGCTTTCTCCAGGTACTTCTTATTAAAGAGATAGCAGAAAGTTTGTGTATGTTTGTGTGTGTGAAAATTGCTTTGACAAGGACATGTGCTCATTGGCTCAATGTTCATGTGTTCATTGGCTCAATGTTCAACTTTGTGGACCAAATCAATTTGTTTCATGACAATTTAAAGTAAGCTACAGTAAGACAGGCAGTGCATTACTATCATGGTGGATGGCATATAGTAGCTTATTAAATACTTGTTGAATGAATAAATGATTGTATTTTTTAAACTGGCATCTTTTTTATCTTTATTATTATTTTTCCCATTGTGCTACGTTTGCTATGAAATAAAAATATGGGTTTTAGCAATTGTAAAAACTATTCTCAAGGATTTTTACATTGTAATCTAGTATTAATTTTCAACTTAATTTACATAATATGTTTTAAAAGTGTTATTTATGTACAAAGAATATTAATATACAGCTATAATTATAATAATAAAATGAGGCATGTATATTAATTATTAATATCTCATTCTAGAGACGTGAAGTATTGTTCTTGTAAAAAACAAAATGTTGCAAATCAGTTGAGGTTTCTCTTGGCCCCATATACTGAAATAATAGTGAAGGGGGGCAAATCATACAGATGAGATACAGCTAAAGCAGTTCCTATACAGAAAATTATAGGTTAAATTTATTTATTAGGAAATAAGAGTTGAAAAATCAAAAAATGTAACTTCTATTTCAAGAAGATAGTGAAGGAATAACAACAAAATCTCCAAAAAAATGAAGAAAATAAACTGGTAAAATCAGAAATGAATAAAATAGAAATATGATATAAAATAATGTCATCAAAGCAGAAATTTCATTCCTTAACAAGTTTTAAAAAATCCATAATTTAACAAAACTGAAAGAATAAAGAGATAAAACACTAAACTTATTTTAATGTATACCATTTGAACTAATGTATGTATACCCATTTCAGGGTATACATACCCATTTCAGGTACCCAGAATATGCCATTTGAACTAATGGCACTTATTCCGGAGTCATGAAAATTTTACATTTCAATCTTTATGGTAAGGCATTAGAATCACCCAGGGAGCTCTCAAAAGTTGTGATATTCAGGTTCACTTGATTTATGACAGTGACACAATTCTATAAGGAATAGATGGTATTTACAATAGATAGAGCAATTTAAATGCAAGTAGAAAGAAAGAAATCTTGAGTTTTATCAAAACATTAATTTGAGTTGGACAATAGGCCTAAGTATTCAAGGTAAAACAAAAAATCTTGTAGAAAAACTATGGTAATATTTTCATGATTTGGGATAACCATGGATACAACCAGGAAAAACAAATTTCATAGACAGAATTAATTAATAGAAAGCATTTCCATGGAAAGACCTCTGGGAATAAATAATATCATCATATGGAATAGTACTCAGCCTTAAAAAAAGGATGAAATTCTGTCATTTGCTACAACATGGATGGAACTGGAGAACATTATGTTAAATAAAATAAGCCAGGCACAGAAAGACAAACACTGCATGTTCTCACTTAGATGTGGAATCTAAAACAATTGAACTCATAGAAACAAAGTAGCATGATGAATACTAGATGATGGGGATGGGGGGAGTCTGGAGATGATAGTCAAAAGGTAAAAAGTTAGAAAGAATAAATTCGATTATTTTATAACAATAGCACAGCATGCTGAATATAGCTAATATTTGAGTCCTCTGTATTTCAATATTTCTAAGAGTAAATTTCTAATGTTCTCATCAAAAAAAAATATTATTATTATATATATCTGACAAATGATATGTAAAGAACTGCAAATGAATAAGTAAAATTCAGTAAAAAATAGGCAATGCACTTGACTTGCACTGTTCAATTTGCATTTGGAAAAATGCAAATTAATATCACAATGAGGTATTATATCATACCCATTAGAATGGCTAACATCAAAAAGAATAACAATCCCAAATTGTGGTGAATATGTGGAGAACTAGAATGCTTACACTTTGCTATTAGATGTGTAAATCAGTGCAAGTTCTTTGGTGACAAAGTTTAGCATTATCTTCTATAGGTACATAAATACCTACCCTATGACTTAAAATATCATTTCTAAAAAAGTTAGTTCCTGTTTCAAGCAAACACATTCTAAGAATGTCTATAGGAACTTTATCATATTAGCCAACATTTGAAAAAGACTCTAATATTCATCAACATGTGAATGGGTAAAATTGAATTAGGTATTCTGATTTAATTGACTATGATGTTAACCTGAATATCACAACTTTTGAGAGCTCCCTGGGTGATTTTAATGCCTTACCATAAAGATTGAAATGTAAAATTTTCATGACTCCAGAATAAGTGCCATTAGTTCAAATGGCATATTTCTGGGTACCTGTCTGTCTTTGATGGCTTGATTTCTCCATGAGTCACAATTACTGCTAGGTACAAAGGTACTTAATCACTGATGCAGAATAATGTATGCTTTTTAAAGTGCTACCAGTGAACTCTCTCCAGGCTGTTACATAAACTGATTTCTTAGATTATCATTTAGTGATCATTTTTTGTAAATAATATTTTTGTTATTATTGTTTCTCACTGAAGTGATTCTGCCATTATTGGCTGTTCTAGTAGATAAATACTGGGTTGTTAGGTTTCTTAAAAAATAATTTTTATGTTGTTTGTTCCTGTCTGATACCATTTCTCCAAACTTTCTGGAAAGAGAATGGCCATTTTAATATATCACAGTCACAGTGATAGGGGTTGTGGCACAGAGATTGGCATATGAACCAATTGCACCAGTCACATTAAGTTTTTATCCTTGGTATACTGATTACTTCTGCTTAGAATATTAAGGAAGCTATTAAACATTTTTCTTTTAAGTGGATCTGAGAGTGACAGTTCTCTCTCCTCTCTTCATTGAGAGAGAAAAAGTGCTCTACTGCCTATTTGTCTGCCCACGATTTAGCAAACTACGTGGGTTAGTTTTGTTCAAAACACGTATAGAAACAAAACAGAGAGCTGAAGCATGTAAGTTAGCGGTGATAACAACTTCTTTGCAGCACTTAAGTGTCCTGTAGCTCACAAGGTTCCTACAACTTTTAATTCAAGTCTGTCTGCTGTTATGATATTTTACCTCAGAATGTTTACGTTTCTTTAAGATAATATTGGGTTTGCTGTTGTTTGCCATGTTCTTCATTTCAGGAACATGTGCAAATCATTATGTTCACCATAAATCATCACCTCCCCCATAGGCATTCATGTATCTGTATTTTATTTTTCATTTTATTTTATTAAGACTGCCCAAAACCCCAAAAATACAGATTATCTTTGAGACTCTTGAATGAGACATCTATGTACAATATCCTGAAAGAATAAGATGCTTATTAAAGCCAACTAATTGCTCCTCATCTTGTTAGTGGAAATGAAGTCTTTATATTGAGCTGCCTATCCTCACCCTGAGAGAATAGGAGCTTCTGTTTCTTTCAATTAATAAAGCATGTCAACTACTGCTTTGTTGTACTACAACCCCAAACCCATATCTGTATTTGTAAGACTTTGGAAAAGGCAGATGGATATAGTTACGCACCTTGAACACAGAAGCAGTTCTTGCCCTGATCTGATAATAGGATTTCCTATACTAGGACAGGTTTGTGAAAACATATGTAGTTCTGAATTTAAAAACTAAAATGTACTCAAGATAATACTATCCTGGAGTATCAGAGATTAGGTTTGAATCCCAGCTTTTGATTTCCTCTCTGTGTGAGTTTCATAAAATCAAACTCTCAGAGCCTCAATCTCTTCAACTAAAATAAATAAGAAAAAACCCTTTATAAAAAGCTGGGTCATTGTGAAAAATAGCTTTTTTAAAATGCCTAAAAATACCTGGAAGCACATCGTGCATGTATTAGAGGTTTGAAAGCAATACTTGTATCTATTAAAATTTTCCATTAATTGGGAGGTACTGTCAGCTGTGGGCTGATTATTTTTTTTAAGCATTTGACATTCCTGGAAGGTGTTTCTTGATTTACCTGAGGATGAAGTGTAGGAGACTTGAACTGGCATGGTTGATGGAAATGACTTGATTCAACGAGTGGGTAAAATGAAAAGGCTAAAGTGGTTTTCACAATATGCAAGATTTTGAGGTCATAGTGGGAAGGAAAGTTGGACTATTTTTCAGCCACAAATCTAAAGCAATAAATTTCTCTTTGTACCATATCTTTTTTCCTGTTTTAAAAATCTTTAGCATCAATGATACGCCTGTATTTGAAATAGACAATTTAAGAAAATTGTATCCTACCATGAATAAATATTACTAAACTCTTCAGAGAGCAAGTTTTTCTACAAACATGGTCTTATTTTTAAAATCATTCATTAGCATTTATTTATTGAACTCTACTCTTCATCAGAAATGTTCTAGACATTAGGTAGGAAAAATTAAAGAAAATAGATAGGTTTCTTCAATCGCTCATAATACACTTTATTCAAGAAGTAGAAAGAAATGAAATAAGCACAAAAGTTATCTATAATTGCAAATATTAAGTATAATAAAGAATAAAGAATAAACAAGTAATAAAAGAGATAAAAGAGAGGGTCATAATACAAGCTTGGGCTAGGTAATTTATGATGAAATTAAGCCAACATTTAAAGAAAAAAGAAAAGGAATGCCTTACACAAAATTGGTGTCAAGCATTTTAACAAAAGAGTTCTGATGTGAAAACTCACAGGAAGAAAAGAGCTCTGTAAATTCAAAAACGATTCAGTAGGTCAATGTGGCTGGAGATTAATGAATATCTGATGATGTTGAACAAGTAGAAAGGGTCCAGCTCATGTAGGGTCTCGGAATATGTTCTTCCTTCGGCTTGGCGTGTTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATCAGCCAGGCGTGGTGACATGCGCCTGTAATCCTAGATACTCGGGAGGCTGAGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCTACTGCACCCCAGCTTGGGCTACAGAGCAAGATTTCGTCTCAAAAAAAATTTCTTTATTGATTTAATTGTATTTCTAAAGAAGTGAGAGTTCAAATTTAAAAGAGGCACTCATATATTCAGTTTGCCTTTTTAATTACTCTTGCCTTGCATAGCGAATCTTTTATAAGGCAGGGAACTTAGCAATATTTTACTGAAGAAATGCTTGGTGACTTCTAGGGTGGGGAAATGATGGGGCGGGGATTGGACTGAAAAACTATCTGTTGGGTACTATGCTCACTACCTGGGTCCAATACCCATGTAAAAATCCAACCCATATCAAATATAAAAGCTGGAATTTAAAAAAGATGGTGACATACTAACATGATTAAAATGGATAGAGAGACAGATATAATATAAAATTTGGGTCTAGCAGTAAAAGAACCTGGTATAGAGAGACTGAATGTAGATAACGAGGAATCCAACTTCTGTCAGAACTGTAAAAATTATCGTTTTTCTGTCTTGGTTGTAATTTGTTGTTTGTATCAGAGGTGCTATCATAAGACATTTATTTTTATTCTGCTTAACTGAAATGGGGACATAAGGCAACGTACTTCCTGGTTACAGTTTTATTCCCATTCTCAGTATCTAGAGTGAATAAAATAAGTCTGTGATAACGATAAAAATATGTGTTGATAATTCTTGGTGTCAAATATTAGGTTTCTCAAATTTACCTTAAATATCTTACCAGACATTTCCAGGTTTTCTGTCACATATGACTGTTAAATCTTCCATTGACACAATTTTGCTACAACTCTCACTCTAATCTGTTTAGTTTTTACACAATAAACAATTGGTTTCATCAGCGGAGGTACAAGTAGGAGAACATTTGCCATGAGAACATTAATGAGGGGAGAGACATGCCCGGCAAAGCGGTGGACAACGGCCAGGTTGATGATGGGCAGGTAGAAGATGATCACTGCACAGATGTGTGAAACACAAGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTCCCGGTACAGTCTTGAGGATCAGGGTGTAAGACACAGCAATGAGAATAAAGTCTACCATAAGGCAGAGTGCTCCAAAAAAGCCATAGATAACATCAATTCTGTTGTCAGAACAGGCCAACTTCATGACATCCTGGTGGAGACAGTAGGAATGGGATAATTGGTTTTTCTTGCAATATCTCAAGCTTCTTAAAGTGAAAGGGAAGGGAAGAACCAGGAGCATGCTCTTAAAGGAGAATACTATCCCTATTTGGGCAACTCTGACAGTTGTCAGGATTGAGGTGTATCTCAGAGGATTGTGGATGGCTAGGAATCTATCAAATGACATGATCAGGAGGACTGAGGACTCCAGTACTGAGAATCCATGAATGAAGAATTCCTGGGCAAAGCAGGCACTAGAAGAAGTTTCAGGGGCATTGAACAGGAAGATGCTTAACACAGTGGGCAGAGATGATAAAGACAAACCCAAGTCTGACATAGCCAACATGGAAAGAAAATA	BUFFER|p.S167N|c.500G>A|3,BUFFER|p.F150F|c.450C>T|3,BUFFER|p.N130N|c.390T>C|4,BUFFER|p.A91A|c.273C>T|3	.	.	.	.	.	ENSP00000369729	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000380371	Transcript	.	.	ENSG00000205496	14764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O51A2_HUMAN	OR51A2	HGNC	.	.	UPI0000041B7B	deletion	OR51A2,coding_sequence_variant,,ENST00000380371,;OR51A4,coding_sequence_variant,,ENST00000380373,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	192-?	1006	586	FAILED
INCENP	3619	.	GRCh37	11	61919460	61919460	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs756479179	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	13	0	ENST00000394818.3:c.*12G>T			ENST00000394818	NM_001040694.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44624.1	.	RADIA|MUTECT|MUSE	.	CCTGCGGCCTT	NONE	byFrequency	.	.	.	.	ENSP00000378295	.	19/19	.	.	.	.	.	.	.	.	rs756479179	19/19	nonpreferredpair	ENST00000394818	Transcript	.	.	ENSG00000149503	6058	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INCE_HUMAN	INCENP	HGNC	E9PM67_HUMAN	.	UPI0000D7D6F3	SNV	INCENP,3_prime_UTR_variant,,ENST00000278849,;INCENP,3_prime_UTR_variant,,ENST00000394818,;INCENP,upstream_gene_variant,,ENST00000531099,;	2971	13	10	SUCCESS
CDKN1B	1027	.	GRCh37	12	12871889	12871889	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	54	0	ENST00000228872.4:c.*8+1G>A			ENST00000228872	NM_004064.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8653.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTCGGTGGGT	NONE	.	.	.	.	.	ENSP00000228872	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000228872	Transcript	.	.	ENSG00000111276	1785	.	.	HIGH	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDN1B_HUMAN	CDKN1B	HGNC	Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN	.	UPI0000035C92	SNV	CDKN1B,splice_donor_variant,,ENST00000228872,;CDKN1B,splice_donor_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000396340,;RP11-180M15.4,downstream_gene_variant,,ENST00000542291,;CDKN1B,splice_donor_variant,,ENST00000477087,;	.	54	29	SUCCESS
SMEK1	0	.	GRCh37	14	91925046	91925046	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	110	0	ENST00000554943.1:c.*57C>T			ENST00000554943				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9895.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGGGGGAGGG	NONE	.	.	.	.	.	ENSP00000450864	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000554684	Transcript	.	.	ENSG00000100796	20219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P4R3A_HUMAN	SMEK1	HGNC	G3V5Z3_HUMAN,G3V4R3_HUMAN,G3V231_HUMAN	.	UPI00001A95E2	SNV	SMEK1,3_prime_UTR_variant,,ENST00000554684,;SMEK1,3_prime_UTR_variant,,ENST00000555462,;SMEK1,3_prime_UTR_variant,,ENST00000428424,;SMEK1,3_prime_UTR_variant,,ENST00000337238,;SMEK1,3_prime_UTR_variant,,ENST00000554943,;SMEK1,downstream_gene_variant,,ENST00000555718,;SMEK1,non_coding_transcript_exon_variant,,ENST00000557382,;SMEK1,downstream_gene_variant,,ENST00000554308,;SMEK1,downstream_gene_variant,,ENST00000554390,;	3017	110	64	SUCCESS
IKBKAP	0	.	GRCh37	9	111631196	111631196	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	18	0	ENST00000374647.5:c.*199G>T			ENST00000374647	NM_003640.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6773.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCTAATG	NONE	.	.	.	.	.	ENSP00000363779	.	37/37	.	.	.	.	.	.	.	.	.	37/37	nonpreferredpair	ENST00000374647	Transcript	.	.	ENSG00000070061	5959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELP1_HUMAN	IKBKAP	HGNC	Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN	.	UPI000013D2D0	SNV	IKBKAP,3_prime_UTR_variant,,ENST00000537196,;IKBKAP,3_prime_UTR_variant,,ENST00000374647,;IKBKAP,3_prime_UTR_variant,,ENST00000495759,;	4506	18	17	SUCCESS
S1PR3	1903	.	GRCh37	9	91617770	91617770	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A115-01	TCGA-DD-A115-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	21	139	1	ENST00000358157.2:c.*518C>T			ENST00000358157	NM_005226.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6680.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCCCCAGTA	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	6350	140	93	SUCCESS
RP11-135A24.2	0	.	GRCh37	10	32667519	32667519	+	downstream_gene_variant	3'Flank	SNP	T	T	C	rs532535267	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	71	153	1				ENST00000417447				0	.	C:0	.	C:0	.	C	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATATGGATC	NONE	by1000G	4103	.	C:0	.	.	C:0	.	.	.	.	.	.	.	.	.	rs532535267	.	PASS	ENST00000417447	Transcript	.	C:0.0002	ENSG00000229327	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	.	RP11-135A24.2	Clone_based_vega_gene	.	.	.	SNV	EPC1,5_prime_UTR_variant,,ENST00000375110,;RP11-135A24.2,downstream_gene_variant,,ENST00000417447,;EPC1,non_coding_transcript_exon_variant,,ENST00000462470,;	.	155	189	SUCCESS
IGHG1	3500	.	GRCh37	14	106203979	106203979	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	34	0				ENST00000390549				0	.	.	.	.	.	C	.	IG_C_gene	YES	.	.	RADIA|MUTECT|MUSE	.	GCCAGAGAGTC	NONE	.	.	.	.	.	ENSP00000374990	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000390548	Transcript	1	.	ENSG00000211896	5525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	IGHG1	HGNC	.	.	UPI000173A69D	SNV	IGHG1,3_prime_UTR_variant,,ENST00000390548,;IGHG1,downstream_gene_variant,,ENST00000390542,;IGHG1,downstream_gene_variant,,ENST00000390549,;	1320	34	22	SUCCESS
PSMB11	122706	.	GRCh37	14	23512934	23512934	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	75	217	0	ENST00000408907.2:c.*597G>A			ENST00000408907	NM_001099780.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41923.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGAGGTAAA	NONE	.	.	.	.	.	ENSP00000386212	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408907	Transcript	.	.	ENSG00000222028	31963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB11_HUMAN	PSMB11	HGNC	.	.	UPI00001D7B85	SNV	PSMB11,3_prime_UTR_variant,,ENST00000408907,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000487137,;CDH24,downstream_gene_variant,,ENST00000397359,;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000485922,;	1559	217	180	SUCCESS
CCDC40	55036	.	GRCh37	17	78073585	78073585	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	38	0	ENST00000397545.4:c.*11G>A			ENST00000397545	NM_017950.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42395.1	.	RADIA|MUTECT|MUSE	.	AGCCTGGACTC	NONE	.	.	.	.	.	ENSP00000380679	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000397545	Transcript	.	.	ENSG00000141519	26090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD40_HUMAN	CCDC40	HGNC	I3L2X6_HUMAN,I3L292_HUMAN	.	UPI0000201739	SNV	CCDC40,3_prime_UTR_variant,,ENST00000397545,;GAA,upstream_gene_variant,,ENST00000577106,;GAA,upstream_gene_variant,,ENST00000302262,;GAA,upstream_gene_variant,,ENST00000390015,;GAA,upstream_gene_variant,,ENST00000570803,;GAA,upstream_gene_variant,,ENST00000574376,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;CCDC40,downstream_gene_variant,,ENST00000572253,;CCDC40,downstream_gene_variant,,ENST00000575431,;	3467	38	62	SUCCESS
BAIAP2	10458	.	GRCh37	17	79090524	79090524	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	7	39	0	ENST00000321300.6:c.*419T>A			ENST00000321300	NM_001144888.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11775.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATTTGTGCT	NONE	.	.	.	.	.	ENSP00000316338	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000321300	Transcript	.	.	ENSG00000175866	947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BAIP2_HUMAN	BAIAP2	HGNC	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN	.	UPI000000D762	SNV	BAIAP2,3_prime_UTR_variant,,ENST00000321300,;BAIAP2,downstream_gene_variant,,ENST00000575245,;AATK,downstream_gene_variant,,ENST00000326724,;BAIAP2,downstream_gene_variant,,ENST00000392411,;BAIAP2,downstream_gene_variant,,ENST00000428708,;BAIAP2,downstream_gene_variant,,ENST00000435091,;AATK,downstream_gene_variant,,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000572498,;AATK,downstream_gene_variant,,ENST00000573469,;AATK,downstream_gene_variant,,ENST00000374792,;AATK,downstream_gene_variant,,ENST00000570932,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	2171	39	53	SUCCESS
SMIM21	284274	.	GRCh37	18	73122634	73122634	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	14	0	ENST00000579022.1:c.*185G>C			ENST00000579022	NM_001037331.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32845.1	.	MUTECT|MUSE	.	CCCCTCAAGAA	NONE	.	.	.	.	.	ENSP00000462106	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000579022	Transcript	.	.	ENSG00000206026	27598	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMI21_HUMAN	SMIM21	HGNC	.	.	UPI00001B64CE	SNV	SMIM21,3_prime_UTR_variant,,ENST00000382638,;SMIM21,3_prime_UTR_variant,,ENST00000579022,;RP11-321M21.3,intron_variant,,ENST00000578340,;RP11-321M21.3,intron_variant,,ENST00000579386,;	631	14	9	SUCCESS
ZFP36	7538	.	GRCh37	19	39899366	39899366	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	15	0	ENST00000248673.3:c.*27T>A			ENST00000248673	NM_003407.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12534.2	.	RADIA|MUSE	.	TCAGCTGGATC	NONE	.	.	.	.	.	ENSP00000469647	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597629	Transcript	.	.	ENSG00000128016	12862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZFP36	HGNC	M0QY76_HUMAN	.	UPI000059D71E	SNV	ZFP36,3_prime_UTR_variant,,ENST00000597629,;ZFP36,3_prime_UTR_variant,,ENST00000594442,;ZFP36,3_prime_UTR_variant,,ENST00000248673,;PLEKHG2,upstream_gene_variant,,ENST00000378550,;ZFP36,downstream_gene_variant,,ENST00000600033,;PLEKHG2,upstream_gene_variant,,ENST00000409797,;PLEKHG2,upstream_gene_variant,,ENST00000409794,;PLEKHG2,upstream_gene_variant,,ENST00000458508,;ZFP36,downstream_gene_variant,,ENST00000594045,;PLEKHG2,upstream_gene_variant,,ENST00000425673,;PLEKHG2,upstream_gene_variant,,ENST00000595920,;PLEKHG2,upstream_gene_variant,,ENST00000438123,;MIR4530,downstream_gene_variant,,ENST00000581459,;	1100	15	11	SUCCESS
KIRREL	0	.	GRCh37	1	158069169	158069169	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	12	0				ENST00000359209				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1172.2	.	MUTECT|MUSE	.	CTCCTCCTCTC	NONE	.	3726	.	.	.	ENSP00000352138	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359209	Transcript	.	.	ENSG00000183853	15734	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIRR1_HUMAN	KIRREL	HGNC	.	.	UPI0000443FBD	SNV	KIRREL,3_prime_UTR_variant,,ENST00000368172,;KIRREL,downstream_gene_variant,,ENST00000360089,;KIRREL,downstream_gene_variant,,ENST00000368173,;KIRREL,downstream_gene_variant,,ENST00000416935,;KIRREL,downstream_gene_variant,,ENST00000359209,;KIRREL,downstream_gene_variant,,ENST00000392272,;	.	12	9	SUCCESS
CST9	128822	.	GRCh37	20	23584043	23584043	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	59	0	ENST00000376971.3:c.*104T>A			ENST00000376971	NM_001008693.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33450.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAAACTCAG	NONE	.	.	.	.	.	ENSP00000366170	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376971	Transcript	.	.	ENSG00000173335	13261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9_HUMAN	CST9	HGNC	.	.	UPI000013ED7B	SNV	CST9,3_prime_UTR_variant,,ENST00000376971,;	596	59	33	SUCCESS
OLIG2	10215	.	GRCh37	21	34401356	34401356	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	33	74	0	ENST00000333337.3:c.*1214T>A			ENST00000333337				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13620.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCTTCCTC	NONE	.	.	.	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,3_prime_UTR_variant,,ENST00000382357,;OLIG2,3_prime_UTR_variant,,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	3114	74	80	SUCCESS
LRRC3	81543	.	GRCh37	21	45877870	45877870	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	252	152	387	0	ENST00000291592.4:c.*569A>C			ENST00000291592	NM_030891.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13711.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGAGAGCT	NONE	.	.	.	.	.	ENSP00000291592	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000291592	Transcript	.	.	ENSG00000160233	14965	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC3_HUMAN	LRRC3	HGNC	.	.	UPI000012E946	SNV	LRRC3,3_prime_UTR_variant,,ENST00000291592,;LRRC3DN,upstream_gene_variant,,ENST00000596691,;LRRC3-AS1,upstream_gene_variant,,ENST00000426578,;	1660	387	404	SUCCESS
TCF20	6942	.	GRCh37	22	42557327	42557327	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	31	0	ENST00000359486.3:c.*82G>A			ENST00000359486	NM_005650.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATCACGAG	NONE	.	.	.	.	.	ENSP00000352463	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359486	Transcript	.	.	ENSG00000100207	11631	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCF20_HUMAN	TCF20	HGNC	I3L1M7_HUMAN	.	UPI00001A95D9	SNV	TCF20,3_prime_UTR_variant,,ENST00000404876,;TCF20,3_prime_UTR_variant,,ENST00000335626,;TCF20,3_prime_UTR_variant,,ENST00000359486,;	6102	31	40	SUCCESS
NPR3	4883	.	GRCh37	5	32791740	32791740	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	45	122	0	ENST00000265074.8:c.*5289G>A			ENST00000265074	NM_001204375.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56357.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTGTCCTT	NONE	.	.	.	.	.	ENSP00000265074	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265074	Transcript	.	.	ENSG00000113389	7945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRC_HUMAN	NPR3	HGNC	.	.	UPI0000125B46	SNV	NPR3,3_prime_UTR_variant,,ENST00000265074,;AC026703.1,3_prime_UTR_variant,,ENST00000326958,;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415685,;	7258	122	182	SUCCESS
SLC44A4	80736	.	GRCh37	6	31830507	31830507	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	27	89	0				ENST00000229729	NM_025257.2	16		0	.	.	.	.	.	A	G/V	protein_coding	YES	CCDS4723.1	47	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGCCCCCAG	NONE	.	.	hmmpanther:PTHR10628	.	.	ENSP00000364782	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000375631	Transcript	.	.	ENSG00000204386	7758	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.011)	.	tolerated_low_confidence(0.12)	.	NEUR1_HUMAN	NEU1	HGNC	Q6Q4G8_HUMAN,Q6Q4G7_HUMAN,Q5JQI0_HUMAN	.	UPI000012FF46	SNV	NEU1,missense_variant,p.Gly16Val,ENST00000375631,;SLC44A4,downstream_gene_variant,,ENST00000414427,;SLC44A4,downstream_gene_variant,,ENST00000229729,;SLC44A4,downstream_gene_variant,,ENST00000544672,;SLC44A4,downstream_gene_variant,,ENST00000375562,;SLC44A4,downstream_gene_variant,,ENST00000487680,;NEU1,missense_variant,p.Gly16Val,ENST00000491768,;NEU1,non_coding_transcript_exon_variant,,ENST00000495807,;NEU1,non_coding_transcript_exon_variant,,ENST00000480384,;SLC44A4,downstream_gene_variant,,ENST00000479777,;	177	89	87	SUCCESS
MAP3K7	6885	.	GRCh37	6	91226090	91226090	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	62	0	ENST00000369329.3:c.*130C>G			ENST00000369329	NM_145331.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5028.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCAGCAAAT	NONE	.	.	.	.	.	ENSP00000358335	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000369329	Transcript	.	.	ENSG00000135341	6859	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K7_HUMAN	MAP3K7	HGNC	.	.	UPI000012EAD6	SNV	MAP3K7,3_prime_UTR_variant,,ENST00000369325,;MAP3K7,3_prime_UTR_variant,,ENST00000369329,;MAP3K7,3_prime_UTR_variant,,ENST00000369320,;MAP3K7,3_prime_UTR_variant,,ENST00000369332,;MAP3K7,3_prime_UTR_variant,,ENST00000369327,;MAP3K7,non_coding_transcript_exon_variant,,ENST00000479630,;	2113	62	17	SUCCESS
WBSCR17	0	.	GRCh37	7	71177213	71177213	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs866423098	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	10	0	ENST00000333538.5:c.*82G>A			ENST00000333538	NM_022479.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5540.1	.	RADIA|MUTECT|MUSE	.	GCGGAGAGACA	NONE	.	.	.	.	.	ENSP00000329654	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000333538	Transcript	.	.	ENSG00000185274	16347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLTL3_HUMAN	WBSCR17	HGNC	Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN	.	UPI00000502D5	SNV	WBSCR17,3_prime_UTR_variant,,ENST00000333538,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;	2513	10	13	SUCCESS
ZNF3	7551	.	GRCh37	7	99668442	99668442	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1044181562	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	15	0	ENST00000299667.4:c.*324C>T			ENST00000299667				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43619.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CCATCGAATTC	NONE	.	.	.	.	.	ENSP00000306372	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000303915	Transcript	.	.	ENSG00000166526	13089	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZNF3_HUMAN	ZNF3	HGNC	Q86U76_HUMAN,C9JK31_HUMAN,C9JIW8_HUMAN,C9JE35_HUMAN,C9J5S8_HUMAN	.	UPI000000D9B2	SNV	ZNF3,3_prime_UTR_variant,,ENST00000303915,;ZNF3,3_prime_UTR_variant,,ENST00000424697,;ZNF3,3_prime_UTR_variant,,ENST00000299667,;ZNF3,intron_variant,,ENST00000413658,;ZNF3,downstream_gene_variant,,ENST00000415068,;ZNF3,downstream_gene_variant,,ENST00000428683,;ZNF3,downstream_gene_variant,,ENST00000441298,;ZNF3,downstream_gene_variant,,ENST00000412947,;ZNF3,downstream_gene_variant,,ENST00000449785,;ZNF3,downstream_gene_variant,,ENST00000292393,;ZNF3,non_coding_transcript_exon_variant,,ENST00000487620,;ZNF3,downstream_gene_variant,,ENST00000466121,;ZNF3,downstream_gene_variant,,ENST00000460331,;ZNF3,downstream_gene_variant,,ENST00000485892,;	2633	15	13	SUCCESS
TRIM14	9830	.	GRCh37	9	100849623	100849623	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs746193952	.	TCGA-DD-A116-01	TCGA-DD-A116-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	50	134	0	ENST00000341469.2:c.*129C>T			ENST00000341469	NM_014788.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6734.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGGGGAAA	NONE	byFrequency	.	.	.	.	ENSP00000344208	.	6/6	.	.	.	.	.	.	.	.	rs746193952	6/6	PASS	ENST00000341469	Transcript	.	.	ENSG00000106785	16283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI14_HUMAN	TRIM14	HGNC	.	.	UPI0000137065	SNV	TRIM14,3_prime_UTR_variant,,ENST00000341469,;TRIM14,3_prime_UTR_variant,,ENST00000538344,;TRIM14,intron_variant,,ENST00000342043,;TRIM14,intron_variant,,ENST00000375098,;NANS,downstream_gene_variant,,ENST00000210444,;TRIM14,intron_variant,,ENST00000478530,;NANS,downstream_gene_variant,,ENST00000461452,;TRIM14,downstream_gene_variant,,ENST00000475147,;	1468	134	76	SUCCESS
POLL	27343	.	GRCh37	10	103347982	103347982	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	33	0				ENST00000299206				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7514.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGGACGAAG	NONE	.	63	.	.	.	ENSP00000359170	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370151	Transcript	.	.	ENSG00000166171	24542	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPCD_HUMAN	DPCD	HGNC	.	.	UPI0000073BC7	SNV	DPCD,synonymous_variant,p.%3D,ENST00000416979,;POLL,5_prime_UTR_variant,,ENST00000429502,;POLL,5_prime_UTR_variant,,ENST00000413344,;POLL,5_prime_UTR_variant,,ENST00000430045,;POLL,5_prime_UTR_variant,,ENST00000436284,;POLL,5_prime_UTR_variant,,ENST00000370172,;POLL,5_prime_UTR_variant,,ENST00000370162,;POLL,upstream_gene_variant,,ENST00000415897,;POLL,upstream_gene_variant,,ENST00000299206,;POLL,upstream_gene_variant,,ENST00000339310,;POLL,upstream_gene_variant,,ENST00000456836,;DPCD,upstream_gene_variant,,ENST00000370148,;POLL,upstream_gene_variant,,ENST00000370158,;DPCD,upstream_gene_variant,,ENST00000370151,;DPCD,upstream_gene_variant,,ENST00000370147,;POLL,upstream_gene_variant,,ENST00000426919,;POLL,upstream_gene_variant,,ENST00000370169,;POLL,upstream_gene_variant,,ENST00000454524,;POLL,non_coding_transcript_exon_variant,,ENST00000470140,;POLL,non_coding_transcript_exon_variant,,ENST00000461587,;DPCD,intron_variant,,ENST00000470165,;POLL,upstream_gene_variant,,ENST00000485369,;	.	33	30	SUCCESS
ASRGL1	80150	.	GRCh37	11	62159808	62159808	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	29	72	0	ENST00000301776.5:c.*52C>T			ENST00000301776	NM_025080.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8019.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCCTCAT	NONE	.	.	.	.	.	ENSP00000400057	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000415229	Transcript	.	.	ENSG00000162174	16448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASGL1_HUMAN	ASRGL1	HGNC	Q9BRH2_HUMAN	.	UPI000004BF00	SNV	ASRGL1,3_prime_UTR_variant,,ENST00000415229,;ASRGL1,3_prime_UTR_variant,,ENST00000301776,;ASRGL1,downstream_gene_variant,,ENST00000535727,;CTD-2531D15.5,intron_variant,,ENST00000526045,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000533970,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000525708,;ASRGL1,downstream_gene_variant,,ENST00000534183,;ASRGL1,downstream_gene_variant,,ENST00000529226,;	1194	72	51	SUCCESS
TALDO1	6888	.	GRCh37	11	764979	764979	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1241479503	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	27	0	ENST00000319006.3:c.*134A>G			ENST00000319006				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7712.1	.	RADIA|MUTECT|MUSE	.	GTAAAATTTTG	NONE	.	.	.	.	.	ENSP00000321259	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000319006	Transcript	.	.	ENSG00000177156	11559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TALDO_HUMAN	TALDO1	HGNC	Q9UMF8_HUMAN,B4DID5_HUMAN	.	UPI00001114B0	SNV	TALDO1,3_prime_UTR_variant,,ENST00000319006,;TALDO1,3_prime_UTR_variant,,ENST00000528097,;PDDC1,downstream_gene_variant,,ENST00000526325,;PDDC1,downstream_gene_variant,,ENST00000397472,;PDDC1,downstream_gene_variant,,ENST00000528309,;PDDC1,downstream_gene_variant,,ENST00000465313,;PDDC1,downstream_gene_variant,,ENST00000526650,;PDDC1,downstream_gene_variant,,ENST00000319863,;TALDO1,non_coding_transcript_exon_variant,,ENST00000532202,;TALDO1,downstream_gene_variant,,ENST00000530666,;PDDC1,downstream_gene_variant,,ENST00000354286,;TALDO1,downstream_gene_variant,,ENST00000530119,;TALDO1,downstream_gene_variant,,ENST00000530440,;TALDO1,downstream_gene_variant,,ENST00000528070,;TALDO1,downstream_gene_variant,,ENST00000533796,;	1301	27	29	SUCCESS
XRCC6BP1	0	.	GRCh37	12	58350690	58350690	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	17	72	0	ENST00000300145.3:c.*17A>C			ENST00000300145	NM_033276.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41802.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTATATTA	NONE	.	.	.	.	.	ENSP00000300145	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000300145	Transcript	.	.	ENSG00000166896	29452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP23_HUMAN	XRCC6BP1	HGNC	.	.	UPI0000037720	SNV	XRCC6BP1,3_prime_UTR_variant,,ENST00000300145,;XRCC6BP1,non_coding_transcript_exon_variant,,ENST00000546709,;XRCC6BP1,downstream_gene_variant,,ENST00000549257,;	883	72	74	SUCCESS
CNOT2	4848	.	GRCh37	12	70747737	70747737	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs577996590	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	9	55	0	ENST00000229195.3:c.*42G>T			ENST00000229195	NM_014515.5			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS31857.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGGGTATGG	NONE	byFrequency|by1000G	.	.	A:0.002	.	ENSP00000229195	A:0	16/16	.	.	.	.	.	.	.	.	rs577996590	16/16	PASS	ENST00000229195	Transcript	.	A:0.0004	ENSG00000111596	7878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CNOT2_HUMAN	CNOT2	HGNC	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN	.	UPI0000052E12	SNV	CNOT2,3_prime_UTR_variant,,ENST00000229195,;CNOT2,3_prime_UTR_variant,,ENST00000418359,;CNOT2,downstream_gene_variant,,ENST00000551043,;CNOT2,downstream_gene_variant,,ENST00000548159,;CNOT2,downstream_gene_variant,,ENST00000548338,;CNOT2,downstream_gene_variant,,ENST00000551483,;CNOT2,downstream_gene_variant,,ENST00000549705,;CNOT2,downstream_gene_variant,,ENST00000549709,;CNOT2,downstream_gene_variant,,ENST00000550705,;CNOT2,downstream_gene_variant,,ENST00000546673,;CNOT2,downstream_gene_variant,,ENST00000551434,;	2244	55	55	SUCCESS
UTP14C	9724	.	GRCh37	13	52605289	52605289	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	50	0	ENST00000521776.2:c.*48T>C			ENST00000521776	NM_021645.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31978.1	.	MUTECT|MUSE|VARSCANS	.	CTTCCTTTGGT	NONE	.	.	.	.	.	ENSP00000428619	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000521776	Transcript	.	.	ENSG00000253797	20321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UT14C_HUMAN	UTP14C	HGNC	.	.	UPI000006DB4B	SNV	UTP14C,3_prime_UTR_variant,,ENST00000521776,;ALG11,downstream_gene_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000521508,;ALG11,downstream_gene_variant,,ENST00000519151,;	3082	50	25	SUCCESS
GREM2	64388	.	GRCh37	1	240656266	240656266	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs779307696	.	TCGA-DD-A118-01	TCGA-DD-A118-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	14	0	ENST00000318160.4:c.*3G>T			ENST00000318160	NM_022469.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31070.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGCGCTCA	NONE	.	.	.	.	.	ENSP00000318650	.	2/2	.	.	.	.	.	.	.	.	rs779307696	2/2	PASS	ENST00000318160	Transcript	.	.	ENSG00000180875	17655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GREM2_HUMAN	GREM2	HGNC	.	.	UPI000006F961	SNV	GREM2,3_prime_UTR_variant,,ENST00000318160,;	777	14	35	SUCCESS
ANKRD37	353322	.	GRCh37	4	186321372	186321372	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A118-01	TCGA-DD-A118-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	16	26	0	ENST00000335174.4:c.*201G>T			ENST00000335174	NM_181726.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAGTTATT	NONE	.	.	.	.	.	ENSP00000335147	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000335174	Transcript	.	.	ENSG00000186352	29593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR37_HUMAN	ANKRD37	HGNC	D6RFF5_HUMAN,B4E066_HUMAN	.	UPI00000473DA	SNV	ANKRD37,3_prime_UTR_variant,,ENST00000335174,;UFSP2,downstream_gene_variant,,ENST00000264689,;ANKRD37,downstream_gene_variant,,ENST00000507753,;UFSP2,downstream_gene_variant,,ENST00000511485,;LRP2BP,upstream_gene_variant,,ENST00000505916,;UFSP2,downstream_gene_variant,,ENST00000509180,;ANKRD37,downstream_gene_variant,,ENST00000507479,;UFSP2,3_prime_UTR_variant,,ENST00000514247,;ANKRD37,non_coding_transcript_exon_variant,,ENST00000511393,;ANKRD37,downstream_gene_variant,,ENST00000506424,;ANKRD37,downstream_gene_variant,,ENST00000511311,;UFSP2,downstream_gene_variant,,ENST00000510206,;UFSP2,downstream_gene_variant,,ENST00000510755,;	1118	26	26	SUCCESS
SLC22A11	55867	.	GRCh37	11	64338585	64338585	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs904379356	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	47	0	ENST00000301891.4:c.*71C>T			ENST00000301891	NM_018484.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8074.1	.	MUTECT|MUSE	.	CAGAGCGTGGA	NONE	.	.	.	.	.	ENSP00000301891	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301891	Transcript	.	.	ENSG00000168065	18120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22AB_HUMAN	SLC22A11	HGNC	.	.	UPI000003ED3F	SNV	SLC22A11,3_prime_UTR_variant,,ENST00000377581,;SLC22A11,3_prime_UTR_variant,,ENST00000377585,;SLC22A11,3_prime_UTR_variant,,ENST00000301891,;SLC22A11,3_prime_UTR_variant,,ENST00000416590,;SLC22A11,3_prime_UTR_variant,,ENST00000428570,;SLC22A11,downstream_gene_variant,,ENST00000460745,;SLC22A11,downstream_gene_variant,,ENST00000478051,;	2098	47	32	SUCCESS
ASB7	140460	.	GRCh37	15	101188803	101188806	+	3_prime_UTR_variant	3'UTR	DEL	TGTT	TGTT	-	rs998329670	.	TCGA-DD-A119-01	TCGA-DD-A119-10	TGTT	TGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	28	0	ENST00000332783.7:c.*142_*145del			ENST00000332783	NM_198243.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10387.1	.	INDELOCATOR|VARSCANI	.	GTTTTCTGTTTGTTT	NONE	.	.	.	.	.	ENSP00000328327	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000332783	Transcript	.	.	ENSG00000183475	17182	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASB7_HUMAN	ASB7	HGNC	.	.	UPI00001B3F4D	deletion	ASB7,3_prime_UTR_variant,,ENST00000332783,;ASB7,3_prime_UTR_variant,,ENST00000558747,;RP11-192M23.1,upstream_gene_variant,,ENST00000561269,;	1878-1881	28	15	SUCCESS
IRF6	3664	.	GRCh37	1	209961719	209961719	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1384439078	.	TCGA-DD-A119-01	TCGA-DD-A119-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	19	0	ENST00000367021.3:c.*46T>C			ENST00000367021	NM_006147.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1492.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATATGTAC	NONE	.	.	.	.	.	ENSP00000355988	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000367021	Transcript	.	.	ENSG00000117595	6121	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRF6_HUMAN	IRF6	HGNC	G0Z349_HUMAN,B1AJU4_HUMAN	.	UPI000012D88D	SNV	IRF6,3_prime_UTR_variant,,ENST00000542854,;IRF6,3_prime_UTR_variant,,ENST00000367021,;IRF6,downstream_gene_variant,,ENST00000456314,;C1orf74,upstream_gene_variant,,ENST00000294811,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,downstream_gene_variant,,ENST00000464698,;	1623	19	24	SUCCESS
RGPD8	727851	.	GRCh37	2	113127741	113127741	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs756585534	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1131	112	1748	1	ENST00000302558.3:c.*14G>A			ENST00000302558	NM_001164463.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46394.1	.	MUTECT|MUSE|VARSCANS	.	AACTACGAAGA	NONE	byFrequency	.	.	.	.	ENSP00000306637	.	23/23	.	.	.	.	.	.	.	.	rs756585534	23/23	PASS	ENST00000302558	Transcript	.	.	ENSG00000169629	9849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD8_HUMAN	RGPD8	HGNC	I1Z9D1_HUMAN,C9J1P2_HUMAN	.	UPI000013E7F5	SNV	RGPD8,3_prime_UTR_variant,,ENST00000302558,;RGPD8,3_prime_UTR_variant,,ENST00000409750,;	5504	1749	1243	SUCCESS
KIAA1456	0	.	GRCh37	8	12884760	12884760	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	65	0	ENST00000524591.2:c.*5207C>T			ENST00000524591	NM_020844.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47808.1	.	MUTECT|MUSE	.	TGACCCACAGG	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	7061	65	25	SUCCESS
ZBTB43	23099	.	GRCh37	9	129598127	129598127	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	31	248	0	ENST00000373457.1:c.*1935G>C			ENST00000373457				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGTATAC	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	3603	248	142	SUCCESS
SLC22A11	55867	.	GRCh37	11	64338585	64338585	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs904379356	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	46	0	ENST00000301891.4:c.*71C>T			ENST00000301891	NM_018484.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8074.1	.	MUTECT|MUSE	.	CAGAGCGTGGA	NONE	.	.	.	.	.	ENSP00000301891	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000301891	Transcript	.	.	ENSG00000168065	18120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22AB_HUMAN	SLC22A11	HGNC	.	.	UPI000003ED3F	SNV	SLC22A11,3_prime_UTR_variant,,ENST00000377581,;SLC22A11,3_prime_UTR_variant,,ENST00000377585,;SLC22A11,3_prime_UTR_variant,,ENST00000301891,;SLC22A11,3_prime_UTR_variant,,ENST00000416590,;SLC22A11,3_prime_UTR_variant,,ENST00000428570,;SLC22A11,downstream_gene_variant,,ENST00000460745,;SLC22A11,downstream_gene_variant,,ENST00000478051,;	2098	46	32	SUCCESS
DENND5B	160518	.	GRCh37	12	31540333	31540333	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	13	0	ENST00000389082.5:c.*204A>G			ENST00000389082	NM_144973.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44857.1	.	MUTECT|MUSE	.	ACACATGAAAA	NONE	.	.	.	.	.	ENSP00000373734	.	21/21	.	.	.	.	.	.	.	.	.	21/21	nonpreferredpair	ENST00000389082	Transcript	.	.	ENSG00000170456	28338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN5B_HUMAN	DENND5B	HGNC	.	.	UPI0000E23226	SNV	DENND5B,3_prime_UTR_variant,,ENST00000536562,;DENND5B,3_prime_UTR_variant,,ENST00000306833,;DENND5B,3_prime_UTR_variant,,ENST00000389082,;	4294	13	8	SUCCESS
ASB7	140460	.	GRCh37	15	101188803	101188806	+	3_prime_UTR_variant	3'UTR	DEL	TGTT	TGTT	-	rs998329670	.	TCGA-DD-A119-01	TCGA-DD-A119-11	TGTT	TGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	30	0	ENST00000332783.7:c.*142_*145del			ENST00000332783	NM_198243.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10387.1	.	INDELOCATOR|VARSCANI	.	GTTTTCTGTTTGTTT	NONE	.	.	.	.	.	ENSP00000328327	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000332783	Transcript	.	.	ENSG00000183475	17182	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASB7_HUMAN	ASB7	HGNC	.	.	UPI00001B3F4D	deletion	ASB7,3_prime_UTR_variant,,ENST00000332783,;ASB7,3_prime_UTR_variant,,ENST00000558747,;RP11-192M23.1,upstream_gene_variant,,ENST00000561269,;	1878-1881	30	15	SUCCESS
IRF6	3664	.	GRCh37	1	209961719	209961719	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1384439078	.	TCGA-DD-A119-01	TCGA-DD-A119-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	21	0	ENST00000367021.3:c.*46T>C			ENST00000367021	NM_006147.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1492.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCATATGTAC	NONE	.	.	.	.	.	ENSP00000355988	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000367021	Transcript	.	.	ENSG00000117595	6121	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRF6_HUMAN	IRF6	HGNC	G0Z349_HUMAN,B1AJU4_HUMAN	.	UPI000012D88D	SNV	IRF6,3_prime_UTR_variant,,ENST00000542854,;IRF6,3_prime_UTR_variant,,ENST00000367021,;IRF6,downstream_gene_variant,,ENST00000456314,;C1orf74,upstream_gene_variant,,ENST00000294811,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,downstream_gene_variant,,ENST00000464698,;	1623	21	24	SUCCESS
RGPD8	727851	.	GRCh37	2	113127741	113127741	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs756585534	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	1131	112	1459	1	ENST00000302558.3:c.*14G>A			ENST00000302558	NM_001164463.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46394.1	.	MUTECT|MUSE|VARSCANS	.	AACTACGAAGA	NONE	byFrequency	.	.	.	.	ENSP00000306637	.	23/23	.	.	.	.	.	.	.	.	rs756585534	23/23	nonpreferredpair	ENST00000302558	Transcript	.	.	ENSG00000169629	9849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RGPD8_HUMAN	RGPD8	HGNC	I1Z9D1_HUMAN,C9J1P2_HUMAN	.	UPI000013E7F5	SNV	RGPD8,3_prime_UTR_variant,,ENST00000302558,;RGPD8,3_prime_UTR_variant,,ENST00000409750,;	5504	1460	1243	SUCCESS
KIAA1456	0	.	GRCh37	8	12884760	12884760	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	47	0	ENST00000524591.2:c.*5207C>T			ENST00000524591	NM_020844.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47808.1	.	MUTECT|MUSE	.	TGACCCACAGG	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	7061	47	25	SUCCESS
ZBTB43	23099	.	GRCh37	9	129598127	129598127	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A119-01	TCGA-DD-A119-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	111	31	219	0	ENST00000373457.1:c.*1935G>C			ENST00000373457				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6867.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACGTATAC	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	3603	219	142	SUCCESS
OTUD1	220213	.	GRCh37	10	23730941	23730941	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs766996125	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	32	357	0	ENST00000376495.3:c.*1109C>T			ENST00000376495	NM_001145373.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44366.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAATCTCATT	NONE	.	.	.	.	.	ENSP00000365678	.	1/1	.	.	.	.	.	.	.	.	rs766996125	1/1	PASS	ENST00000376495	Transcript	.	.	ENSG00000165312	27346	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTUD1_HUMAN	OTUD1	HGNC	.	.	UPI0000458A32	SNV	OTUD1,3_prime_UTR_variant,,ENST00000376495,;	2744	357	128	SUCCESS
CCDC62	84660	.	GRCh37	12	123311004	123311004	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs771310488	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	40	132	0	ENST00000253079.6:c.*76C>T			ENST00000253079	NM_201435.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9238.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCAATAC	NONE	.	.	.	.	.	ENSP00000253079	.	13/13	.	.	.	.	.	.	.	.	rs771310488	13/13	PASS	ENST00000253079	Transcript	.	.	ENSG00000130783	30723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD62_HUMAN	CCDC62	HGNC	.	.	UPI0000366924	SNV	CCDC62,synonymous_variant,p.%3D,ENST00000392441,;CCDC62,3_prime_UTR_variant,,ENST00000537566,;CCDC62,3_prime_UTR_variant,,ENST00000253079,;CCDC62,3_prime_UTR_variant,,ENST00000392440,;CCDC62,synonymous_variant,p.%3D,ENST00000341952,;	2475	132	93	SUCCESS
FZD10	11211	.	GRCh37	12	130649854	130649854	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	9	151	0	ENST00000229030.4:c.*621T>C			ENST00000229030				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9267.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTTTTCT	NONE	.	.	.	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,3_prime_UTR_variant,,ENST00000539839,;FZD10,3_prime_UTR_variant,,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	2851	151	89	SUCCESS
UBQLN4	56893	.	GRCh37	1	156006663	156006663	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	66	0	ENST00000368309.3:c.*106C>T			ENST00000368309	NM_020131.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1127.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGAGGGA	NONE	.	.	.	.	.	ENSP00000357292	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000368309	Transcript	.	.	ENSG00000160803	1237	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBQL4_HUMAN	UBQLN4	HGNC	.	.	UPI000013E0AB	SNV	UBQLN4,3_prime_UTR_variant,,ENST00000368309,;UBQLN4,downstream_gene_variant,,ENST00000459954,;	2005	66	28	SUCCESS
DPYD	1806	.	GRCh37	1	97544430	97544430	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1401580006	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	46	0	ENST00000370192.3:c.*102A>C			ENST00000370192	NM_000110.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30777.1	.	MUTECT|MUSE	.	GTATATTTGTT	NONE	.	.	.	.	.	ENSP00000359211	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000370192	Transcript	.	.	ENSG00000188641	3012	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPYD_HUMAN	DPYD	HGNC	.	.	UPI0000458949	SNV	DPYD,3_prime_UTR_variant,,ENST00000370192,;	3281	46	14	SUCCESS
SOWAHC	65124	.	GRCh37	2	110376473	110376473	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	181	147	607	0	ENST00000356454.3:c.*2829G>T			ENST00000356454	NM_023016.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33270.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAGGTTGCC	NONE	.	.	.	.	.	ENSP00000365830	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356454	Transcript	.	.	ENSG00000198142	26149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWAHC_HUMAN	SOWAHC	HGNC	.	.	UPI0000208A9B	SNV	SOWAHC,3_prime_UTR_variant,,ENST00000356454,;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000545389,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000397712,;SEPT10,upstream_gene_variant,,ENST00000334001,;SEPT10,upstream_gene_variant,,ENST00000397714,;SEPT10,upstream_gene_variant,,ENST00000356688,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	4563	607	329	SUCCESS
NCAPG	64151	.	GRCh37	4	17847278	17847278	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	154	1				ENST00000251496	NM_022346.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3424.1	.	MUTECT|MUSE	.	ATTGATAAATG	NONE	.	793	.	.	.	ENSP00000251496	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000251496	Transcript	.	.	ENSG00000109805	24304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CND3_HUMAN	NCAPG	HGNC	.	.	UPI0000073296	SNV	LCORL,3_prime_UTR_variant,,ENST00000539056,;LCORL,3_prime_UTR_variant,,ENST00000326877,;NCAPG,downstream_gene_variant,,ENST00000251496,;LCORL,non_coding_transcript_exon_variant,,ENST00000510121,;LCORL,3_prime_UTR_variant,,ENST00000510451,;NCAPG,downstream_gene_variant,,ENST00000514176,;	.	155	52	SUCCESS
C5orf30	0	.	GRCh37	5	102613704	102613704	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	19	232	0	ENST00000319933.2:c.*1463T>C			ENST00000319933	NM_033211.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGTAAGTA	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;C5orf30,downstream_gene_variant,,ENST00000515669,;	2392	232	67	SUCCESS
PPP1R14C	81706	.	GRCh37	6	150569974	150569974	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	80	0	ENST00000361131.4:c.*18A>G			ENST00000361131	NM_030949.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5226.1	.	RADIA|VARSCANS	.	GTGAAACTCTC	NONE	.	.	.	.	.	ENSP00000355260	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361131	Transcript	.	.	ENSG00000198729	14952	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PP14C_HUMAN	PPP1R14C	HGNC	.	.	UPI0000071936	SNV	PPP1R14C,3_prime_UTR_variant,,ENST00000361131,;	633	80	36	SUCCESS
DGKI	9162	.	GRCh37	7	137075862	137075862	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	43	0	ENST00000288490.5:c.*104C>A			ENST00000288490	NM_004717.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5845.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGACAGA	NONE	.	.	.	.	.	ENSP00000288490	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000288490	Transcript	.	.	ENSG00000157680	2855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DGKI_HUMAN	DGKI	HGNC	B3KR69_HUMAN	.	UPI000012DD23	SNV	DGKI,3_prime_UTR_variant,,ENST00000453654,;DGKI,3_prime_UTR_variant,,ENST00000288490,;DGKI,3_prime_UTR_variant,,ENST00000424189,;DGKI,3_prime_UTR_variant,,ENST00000446122,;DGKI,non_coding_transcript_exon_variant,,ENST00000494390,;DGKI,non_coding_transcript_exon_variant,,ENST00000477835,;DGKI,downstream_gene_variant,,ENST00000497321,;DGKI,non_coding_transcript_exon_variant,,ENST00000486153,;	3303	43	16	SUCCESS
PSCA	8000	.	GRCh37	8	143763558	143763558	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A11A-01	TCGA-DD-A11A-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	18	0	ENST00000301258.4:c.*8G>A			ENST00000301258	NM_005672.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47925.2	.	RADIA|SOMATICSNIPER|VARSCANS	.	TCTGGGGGGCC	BUFFER|p.L114L|c.342C>A|8	.	.	.	.	.	ENSP00000301258	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301258	Transcript	.	.	ENSG00000167653	9500	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSCA_HUMAN	PSCA	HGNC	D3DWI6_HUMAN	.	UPI000015B119	SNV	PSCA,3_prime_UTR_variant,,ENST00000301258,;PSCA,downstream_gene_variant,,ENST00000513264,;PSCA,non_coding_transcript_exon_variant,,ENST00000510969,;JRK,upstream_gene_variant,,ENST00000585503,;JRK,upstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000587499,;JRK,upstream_gene_variant,,ENST00000591180,;PSCA,downstream_gene_variant,,ENST00000505305,;JRK,upstream_gene_variant,,ENST00000587883,;	436	18	17	SUCCESS
FRAT1	10023	.	GRCh37	10	99081300	99081300	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	54	215	0	ENST00000371021.3:c.*1250G>A			ENST00000371021	NM_005479.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7455.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTGCAGGA	NONE	.	.	.	.	.	ENSP00000360060	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371021	Transcript	.	.	ENSG00000165879	3944	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAT1_HUMAN	FRAT1	HGNC	.	.	UPI000006D6B7	SNV	FRAT1,3_prime_UTR_variant,,ENST00000371021,;FRAT1,intron_variant,,ENST00000490980,;	2279	215	143	SUCCESS
MANSC4	100287284	.	GRCh37	12	27915669	27915669	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	71	325	0				ENST00000381273	NM_001146221.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53770.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTTACTAT	NONE	.	2	.	.	.	ENSP00000370673	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381273	Transcript	.	.	ENSG00000205693	40023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANS4_HUMAN	MANSC4	HGNC	.	.	UPI00019912E6	SNV	MANSC4,downstream_gene_variant,,ENST00000381273,;	.	325	181	SUCCESS
EID1	23741	.	GRCh37	15	49172063	49172063	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	110	342	1	ENST00000530028.2:c.*1126T>A			ENST00000530028	NM_014335.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53941.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATGTGTTAA	NONE	.	.	.	.	.	ENSP00000431162	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530028	Transcript	.	.	ENSG00000255302	1191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EID1_HUMAN	EID1	HGNC	.	.	UPI0000073CFD	SNV	EID1,3_prime_UTR_variant,,ENST00000530028,;SHC4,intron_variant,,ENST00000332408,;EID1,downstream_gene_variant,,ENST00000560490,;SHC4,upstream_gene_variant,,ENST00000537958,;SHC4,upstream_gene_variant,,ENST00000558220,;SHC4,upstream_gene_variant,,ENST00000396535,;EID1,downstream_gene_variant,,ENST00000558295,;SHC4,upstream_gene_variant,,ENST00000559289,;SHC4,upstream_gene_variant,,ENST00000557797,;AC012379.1,downstream_gene_variant,,ENST00000441252,;	1981	343	241	SUCCESS
C2CD4D	100191040	.	GRCh37	1	151810372	151810372	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	41	95	0	ENST00000454109.1:c.*32A>C			ENST00000454109	NM_001136003.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44224.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGTGGAGA	NONE	.	.	.	.	.	ENSP00000389554	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000454109	Transcript	.	.	ENSG00000225556	37210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2D4D_HUMAN	C2CD4D	HGNC	.	.	UPI0001747AE2	SNV	C2CD4D,3_prime_UTR_variant,,ENST00000454109,;AL450992.2,upstream_gene_variant,,ENST00000434182,;Y_RNA,downstream_gene_variant,,ENST00000364264,;	1680	95	67	SUCCESS
UGT2A3	79799	.	GRCh37	4	69795464	69795464	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	108	487	0	ENST00000251566.4:c.*67G>T			ENST00000251566	NM_024743.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3525.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTCACCAA	NONE	.	.	.	.	.	ENSP00000251566	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000251566	Transcript	.	.	ENSG00000135220	28528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD2A3_HUMAN	UGT2A3	HGNC	F5GY78_HUMAN	.	UPI000004E644	SNV	UGT2A3,3_prime_UTR_variant,,ENST00000251566,;UGT2A3,3_prime_UTR_variant,,ENST00000420231,;UGT2A3,3_prime_UTR_variant,,ENST00000503012,;	1682	487	366	SUCCESS
ZBTB43	23099	.	GRCh37	9	129598749	129598749	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs558258882	.	TCGA-DD-A11B-01	TCGA-DD-A11B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	54	164	0	ENST00000373457.1:c.*2557G>T			ENST00000373457				0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAGGGTGTCT	NONE	by1000G	.	.	A:0	.	ENSP00000362563	A:0.001	3/3	.	.	.	.	.	.	.	.	rs558258882	3/3	PASS	ENST00000373464	Transcript	.	A:0.0002	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,downstream_gene_variant,,ENST00000497064,;	4225	164	69	SUCCESS
FRAT1	10023	.	GRCh37	10	99081300	99081300	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	54	244	0	ENST00000371021.3:c.*1250G>A			ENST00000371021	NM_005479.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7455.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTGCAGGA	NONE	.	.	.	.	.	ENSP00000360060	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000371021	Transcript	.	.	ENSG00000165879	3944	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRAT1_HUMAN	FRAT1	HGNC	.	.	UPI000006D6B7	SNV	FRAT1,3_prime_UTR_variant,,ENST00000371021,;FRAT1,intron_variant,,ENST00000490980,;	2279	244	143	SUCCESS
MANSC4	100287284	.	GRCh37	12	27915669	27915669	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	71	400	0				ENST00000381273	NM_001146221.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53770.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTTACTAT	NONE	.	2	.	.	.	ENSP00000370673	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000381273	Transcript	.	.	ENSG00000205693	40023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MANS4_HUMAN	MANSC4	HGNC	.	.	UPI00019912E6	SNV	MANSC4,downstream_gene_variant,,ENST00000381273,;	.	400	181	SUCCESS
EID1	23741	.	GRCh37	15	49172063	49172063	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	110	511	0	ENST00000530028.2:c.*1126T>A			ENST00000530028	NM_014335.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53941.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGTGTTAA	NONE	.	.	.	.	.	ENSP00000431162	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000530028	Transcript	.	.	ENSG00000255302	1191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EID1_HUMAN	EID1	HGNC	.	.	UPI0000073CFD	SNV	EID1,3_prime_UTR_variant,,ENST00000530028,;SHC4,intron_variant,,ENST00000332408,;EID1,downstream_gene_variant,,ENST00000560490,;SHC4,upstream_gene_variant,,ENST00000537958,;SHC4,upstream_gene_variant,,ENST00000558220,;SHC4,upstream_gene_variant,,ENST00000396535,;EID1,downstream_gene_variant,,ENST00000558295,;SHC4,upstream_gene_variant,,ENST00000559289,;SHC4,upstream_gene_variant,,ENST00000557797,;AC012379.1,downstream_gene_variant,,ENST00000441252,;	1981	511	241	SUCCESS
C2CD4D	100191040	.	GRCh37	1	151810372	151810372	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	41	98	0	ENST00000454109.1:c.*32A>C			ENST00000454109	NM_001136003.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44224.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGTGGAGA	NONE	.	.	.	.	.	ENSP00000389554	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000454109	Transcript	.	.	ENSG00000225556	37210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2D4D_HUMAN	C2CD4D	HGNC	.	.	UPI0001747AE2	SNV	C2CD4D,3_prime_UTR_variant,,ENST00000454109,;AL450992.2,upstream_gene_variant,,ENST00000434182,;Y_RNA,downstream_gene_variant,,ENST00000364264,;	1680	98	67	SUCCESS
UGT2A3	79799	.	GRCh37	4	69795464	69795464	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	257	108	734	0	ENST00000251566.4:c.*67G>T			ENST00000251566	NM_024743.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3525.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTCACCAA	NONE	.	.	.	.	.	ENSP00000251566	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000251566	Transcript	.	.	ENSG00000135220	28528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD2A3_HUMAN	UGT2A3	HGNC	F5GY78_HUMAN	.	UPI000004E644	SNV	UGT2A3,3_prime_UTR_variant,,ENST00000251566,;UGT2A3,3_prime_UTR_variant,,ENST00000420231,;UGT2A3,3_prime_UTR_variant,,ENST00000503012,;	1682	734	366	SUCCESS
MTSS1	9788	.	GRCh37	8	125565050	125565050	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	18	0	ENST00000518547.1:c.*183T>C			ENST00000518547	NM_014751.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6353.1	.	RADIA|MUTECT|MUSE	.	AGATCAAGATT	NONE	.	.	.	.	.	ENSP00000429064	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000518547	Transcript	.	.	ENSG00000170873	20443	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MTSS1_HUMAN	MTSS1	HGNC	E5RJX3_HUMAN	.	UPI000019B3D8	SNV	MTSS1,3_prime_UTR_variant,,ENST00000395508,;MTSS1,3_prime_UTR_variant,,ENST00000518547,;MTSS1,3_prime_UTR_variant,,ENST00000378017,;MTSS1,3_prime_UTR_variant,,ENST00000354184,;MTSS1,3_prime_UTR_variant,,ENST00000519168,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000523179,;MTSS1,downstream_gene_variant,,ENST00000524090,;MTSS1,downstream_gene_variant,,ENST00000431961,;MTSS1,downstream_gene_variant,,ENST00000522118,;NDUFB9,downstream_gene_variant,,ENST00000517367,;NDUFB9,downstream_gene_variant,,ENST00000276689,;MTSS1,downstream_gene_variant,,ENST00000325064,;MTSS1,downstream_gene_variant,,ENST00000520094,;MTSS1,downstream_gene_variant,,ENST00000523587,;MTSS1,downstream_gene_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;NDUFB9,downstream_gene_variant,,ENST00000518657,;NDUFB9,downstream_gene_variant,,ENST00000524241,;	2925	18	13	SUCCESS
ZBTB43	23099	.	GRCh37	9	129598749	129598749	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs558258882	.	TCGA-DD-A11B-01	TCGA-DD-A11B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	54	229	0	ENST00000373457.1:c.*2557G>T			ENST00000373457				0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS6867.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGGGTGTCT	NONE	by1000G	.	.	A:0	.	ENSP00000362563	A:0.001	3/3	.	.	.	.	.	.	.	.	rs558258882	3/3	nonpreferredpair	ENST00000373464	Transcript	.	A:0.0002	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,downstream_gene_variant,,ENST00000497064,;	4225	229	69	SUCCESS
POLR3GL	84265	.	GRCh37	1	145474731	145474731	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	29	0				ENST00000369314	NM_032305.1	468		0	.	.	.	.	.	A	L/*	protein_coding	YES	CCDS30829.1	1403	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATTGGTGA	NONE	.	.	hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF4	.	.	ENSP00000314103	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000323397	Transcript	.	.	ENSG00000181039	27639	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34A_HUMAN	ANKRD34A	HGNC	.	.	UPI00001410C4	SNV	ANKRD34A,stop_gained,p.Leu468Ter,ENST00000323397,;POLR3GL,upstream_gene_variant,,ENST00000369313,;POLR3GL,upstream_gene_variant,,ENST00000369314,;LIX1L,upstream_gene_variant,,ENST00000369308,;RP11-315I20.1,downstream_gene_variant,,ENST00000600340,;POLR3GL,upstream_gene_variant,,ENST00000446572,;POLR3GL,upstream_gene_variant,,ENST00000471706,;	2696	29	42	SUCCESS
RAB7A	7879	.	GRCh37	3	128532270	128532270	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs771183870	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	27	0	ENST00000265062.3:c.*5G>T			ENST00000265062	NM_004637.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3052.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGCAGTG	NONE	byFrequency	.	.	.	.	ENSP00000265062	.	6/6	.	.	.	.	.	.	.	.	rs771183870	6/6	PASS	ENST00000265062	Transcript	.	.	ENSG00000075785	9788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB7A_HUMAN	RAB7A	HGNC	C9J592_HUMAN	.	UPI0000001260	SNV	RAB7A,3_prime_UTR_variant,,ENST00000483906,;RAB7A,3_prime_UTR_variant,,ENST00000485280,;RAB7A,3_prime_UTR_variant,,ENST00000493186,;RAB7A,3_prime_UTR_variant,,ENST00000482525,;RAB7A,3_prime_UTR_variant,,ENST00000265062,;	875	27	23	SUCCESS
HDAC11	79885	.	GRCh37	3	13546250	13546250	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs888427302	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	33	0	ENST00000295757.3:c.*67T>C			ENST00000295757	NM_024827.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2615.1	.	RADIA|VARSCANS	.	TAACCTCATGG	NONE	.	.	.	.	.	ENSP00000295757	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000295757	Transcript	.	.	ENSG00000163517	19086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HDA11_HUMAN	HDAC11	HGNC	Q6IA14_HUMAN,F5H6R5_HUMAN,E7ETT9_HUMAN,C9JMH0_HUMAN,C9JEC8_HUMAN,B5MCV5_HUMAN	.	UPI000012C3A7	SNV	HDAC11,3_prime_UTR_variant,,ENST00000522202,;HDAC11,3_prime_UTR_variant,,ENST00000446613,;HDAC11,3_prime_UTR_variant,,ENST00000295757,;HDAC11,3_prime_UTR_variant,,ENST00000437379,;HDAC11,3_prime_UTR_variant,,ENST00000402259,;HDAC11,3_prime_UTR_variant,,ENST00000404040,;HDAC11,3_prime_UTR_variant,,ENST00000433119,;HDAC11,3_prime_UTR_variant,,ENST00000402271,;HDAC11,downstream_gene_variant,,ENST00000458642,;HDAC11,downstream_gene_variant,,ENST00000434848,;HDAC11,downstream_gene_variant,,ENST00000455904,;HDAC11,downstream_gene_variant,,ENST00000405025,;HDAC11,downstream_gene_variant,,ENST00000404548,;HDAC11,downstream_gene_variant,,ENST00000405478,;HDAC11,downstream_gene_variant,,ENST00000495099,;HDAC11,3_prime_UTR_variant,,ENST00000425430,;HDAC11,downstream_gene_variant,,ENST00000487585,;HDAC11,downstream_gene_variant,,ENST00000475818,;HDAC11,downstream_gene_variant,,ENST00000498532,;	1294	33	27	SUCCESS
WDR6	11180	.	GRCh37	3	49053385	49053385	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	16	94	0	ENST00000608424.1:c.*664T>G			ENST00000608424				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33754.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTGTCCTGG	NONE	.	.	.	.	.	ENSP00000344989	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341949	Transcript	.	.	ENSG00000178149	25536	.	.	MODIFIER	10/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DALD3_HUMAN	DALRD3	HGNC	.	.	UPI00000622F0	SNV	DALRD3,synonymous_variant,p.%3D,ENST00000440857,;WDR6,3_prime_UTR_variant,,ENST00000395474,;WDR6,3_prime_UTR_variant,,ENST00000608424,;DALRD3,intron_variant,,ENST00000313778,;DALRD3,intron_variant,,ENST00000438585,;DALRD3,intron_variant,,ENST00000441576,;DALRD3,intron_variant,,ENST00000341949,;DALRD3,intron_variant,,ENST00000395462,;WDR6,downstream_gene_variant,,ENST00000419837,;WDR6,downstream_gene_variant,,ENST00000448293,;WDR6,downstream_gene_variant,,ENST00000415265,;NDUFAF3,upstream_gene_variant,,ENST00000326912,;WDR6,downstream_gene_variant,,ENST00000489427,;DALRD3,downstream_gene_variant,,ENST00000420952,;WDR6,downstream_gene_variant,,ENST00000491365,;WDR6,downstream_gene_variant,,ENST00000429900,;WDR6,downstream_gene_variant,,ENST00000438660,;MIR191,downstream_gene_variant,,ENST00000384873,;MIR425,downstream_gene_variant,,ENST00000362162,;DALRD3,downstream_gene_variant,,ENST00000492585,;DALRD3,downstream_gene_variant,,ENST00000496568,;WDR6,downstream_gene_variant,,ENST00000489684,;WDR6,downstream_gene_variant,,ENST00000461687,;WDR6,downstream_gene_variant,,ENST00000472878,;DALRD3,non_coding_transcript_exon_variant,,ENST00000498794,;DALRD3,non_coding_transcript_exon_variant,,ENST00000481001,;DALRD3,non_coding_transcript_exon_variant,,ENST00000467457,;DALRD3,non_coding_transcript_exon_variant,,ENST00000472331,;DALRD3,non_coding_transcript_exon_variant,,ENST00000498498,;DALRD3,intron_variant,,ENST00000484831,;DALRD3,intron_variant,,ENST00000460505,;WDR6,downstream_gene_variant,,ENST00000452875,;WDR6,downstream_gene_variant,,ENST00000498023,;WDR6,downstream_gene_variant,,ENST00000488572,;WDR6,downstream_gene_variant,,ENST00000471162,;WDR6,downstream_gene_variant,,ENST00000462064,;WDR6,downstream_gene_variant,,ENST00000473238,;WDR6,downstream_gene_variant,,ENST00000492780,;WDR6,downstream_gene_variant,,ENST00000420783,;	.	94	82	SUCCESS
CLDN4	1364	.	GRCh37	7	73246607	73246607	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs539837737	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	39	160	0	ENST00000340958.2:c.*446G>T			ENST00000340958	NM_001305.3			0	.	A:0	.	A:0.0014	.	T	.	protein_coding	YES	CCDS5560.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCCGCGCCC	NONE	by1000G	.	.	A:0	.	ENSP00000409544	A:0	2/2	.	.	.	.	.	.	.	.	rs539837737	2/2	PASS	ENST00000435050	Transcript	.	A:0.0002	ENSG00000189143	2046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CLD4_HUMAN	CLDN4	HGNC	Q75L80_HUMAN,B3KW38_HUMAN	.	UPI0000044941	SNV	CLDN4,3_prime_UTR_variant,,ENST00000435050,;CLDN4,3_prime_UTR_variant,,ENST00000340958,;CLDN4,3_prime_UTR_variant,,ENST00000431918,;WBSCR27,downstream_gene_variant,,ENST00000297873,;CLDN4,downstream_gene_variant,,ENST00000466411,;CLDN4,downstream_gene_variant,,ENST00000476494,;WBSCR27,downstream_gene_variant,,ENST00000458679,;	3756	160	92	SUCCESS
BHLHE22	27319	.	GRCh37	8	65495590	65495591	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	14	45	0	ENST00000321870.1:c.*1103dup			ENST00000321870	NM_152414.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6179.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GATCTCTTTTT	NONE	.	.	.	.	.	ENSP00000318799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321870	Transcript	.	.	ENSG00000180828	11963	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BHE22_HUMAN	BHLHE22	HGNC	.	.	UPI0000070A3C	insertion	BHLHE22,3_prime_UTR_variant,,ENST00000321870,;RP11-21C4.1,upstream_gene_variant,,ENST00000517909,;CYP7B1,downstream_gene_variant,,ENST00000523954,;	2777-2778	45	77	SUCCESS
FOXD4	2298	.	GRCh37	9	116372	116372	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-A11C-01	TCGA-DD-A11C-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	992	170	1571	0	ENST00000382500.2:c.*428del			ENST00000382500	NM_207305.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34975.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAACATCCCTA	NONE	.	.	.	.	.	ENSP00000371940	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382500	Transcript	.	.	ENSG00000170122	3805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXD4_HUMAN	FOXD4	HGNC	.	.	UPI00001AFF18	deletion	FOXD4,3_prime_UTR_variant,,ENST00000382500,;CBWD1,downstream_gene_variant,,ENST00000377400,;CBWD1,downstream_gene_variant,,ENST00000356521,;RP11-143M1.4,upstream_gene_variant,,ENST00000416242,;CBWD1,downstream_gene_variant,,ENST00000475990,;	2046	1571	1162	SUCCESS
STK32C	282974	.	GRCh37	10	134021376	134021376	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	13	0	ENST00000298630.3:c.*138C>G			ENST00000298630	NM_173575.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7666.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTGAAATG	NONE	.	.	.	.	.	ENSP00000298630	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000298630	Transcript	.	.	ENSG00000165752	21332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ST32C_HUMAN	STK32C	HGNC	I6L972_HUMAN	.	UPI0000192113	SNV	STK32C,3_prime_UTR_variant,,ENST00000368622,;STK32C,3_prime_UTR_variant,,ENST00000368625,;STK32C,3_prime_UTR_variant,,ENST00000298630,;DPYSL4,downstream_gene_variant,,ENST00000368627,;DPYSL4,downstream_gene_variant,,ENST00000338492,;DPYSL4,downstream_gene_variant,,ENST00000368629,;DPYSL4,downstream_gene_variant,,ENST00000471544,;STK32C,3_prime_UTR_variant,,ENST00000462160,;	1706	13	15	SUCCESS
EIF5AL1	143244	.	GRCh37	10	81273634	81273634	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs148442664	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	47	0	ENST00000520547.2:c.*764C>T			ENST00000520547	NM_001099692.1			0	.	A:0.003	.	A:0	.	T	.	protein_coding	YES	CCDS53546.1	.	MUTECT|VARSCANS	.	ACACGCTGTCT	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000430706	A:0	1/1	.	.	.	.	.	.	.	.	rs148442664	1/1	PASS	ENST00000520547	Transcript	.	A:0.0008	ENSG00000253626	17419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	IF5AL_HUMAN	EIF5AL1	HGNC	.	.	UPI00001972AD	SNV	EIF5AL1,3_prime_UTR_variant,,ENST00000520547,;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;	1278	47	43	SUCCESS
MUC19	283463	.	GRCh37	12	40921195	40921195	+	intron_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	22	0	ENST00000454784.4:c.*5783-15169A>G			ENST00000454784				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	RADIA|MUSE	.	CTCTCAAGCTT	NONE	.	.	.	.	.	ENSP00000476404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	49/83	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,intron_variant,,ENST00000454784,;MUC19,upstream_gene_variant,,ENST00000424466,;MUC19,non_coding_transcript_exon_variant,,ENST00000474954,;MUC19,downstream_gene_variant,,ENST00000398702,;	.	22	15	SUCCESS
PCDH20	64881	.	GRCh37	13	61985316	61985316	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	48	177	0	ENST00000409186.1:c.*60A>G			ENST00000409186				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9442.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTAGGTG	NONE	.	.	.	.	.	ENSP00000386653	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,3_prime_UTR_variant,,ENST00000409204,;PCDH20,3_prime_UTR_variant,,ENST00000409186,;	5022	177	137	SUCCESS
PRKCH	5583	.	GRCh37	14	62016558	62016558	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	96	0	ENST00000332981.5:c.*9G>T			ENST00000332981	NM_006255.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGGGGAGTG	BUFFER|p.*684Y|c.2052G>C|11	.	.	.	.	.	ENSP00000329127	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000332981	Transcript	.	.	ENSG00000027075	9403	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCL_HUMAN	PRKCH	HGNC	G3V5U5_HUMAN,G3V5F8_HUMAN,G3V520_HUMAN,G3V4X4_HUMAN,G3V4Q9_HUMAN,G3V4Q6_HUMAN,G3V4L3_HUMAN,G3V4H0_HUMAN,G3V3E7_HUMAN,G3V304_HUMAN,B4DV01_HUMAN,B4DJN5_HUMAN	.	UPI0000073BBF	SNV	PRKCH,3_prime_UTR_variant,,ENST00000332981,;PRKCH,3_prime_UTR_variant,,ENST00000555082,;RP11-47I22.4,intron_variant,,ENST00000556347,;RP11-47I22.1,upstream_gene_variant,,ENST00000556543,;PRKCH,non_coding_transcript_exon_variant,,ENST00000556245,;PRKCH,non_coding_transcript_exon_variant,,ENST00000536400,;PRKCH,downstream_gene_variant,,ENST00000557599,;PRKCH,downstream_gene_variant,,ENST00000553846,;PRKCH,downstream_gene_variant,,ENST00000555382,;PRKCH,downstream_gene_variant,,ENST00000555628,;	2446	96	72	SUCCESS
C15orf54	400360	.	GRCh37	15	39545291	39545291	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	14	193	0	ENST00000318578.3:c.*403A>G			ENST00000318578	NM_207445.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10049.1	.	MUTECT|MUSE|VARSCANS	.	CTTCAAGAAGG	NONE	.	.	.	.	.	ENSP00000323686	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318578	Transcript	.	.	ENSG00000175746	33797	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO054_HUMAN	C15orf54	HGNC	.	.	UPI00000717BB	SNV	C15orf54,3_prime_UTR_variant,,ENST00000318578,;C15orf54,downstream_gene_variant,,ENST00000561223,;RP11-624L4.1,intron_variant,,ENST00000561058,;RP11-624L4.1,intron_variant,,ENST00000558209,;RP11-624L4.1,intron_variant,,ENST00000560484,;	1323	193	168	SUCCESS
ANAPC11	51529	.	GRCh37	17	79858055	79858055	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	38	0	ENST00000344877.5:c.*114A>G			ENST00000344877	NM_001002248.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32769.1	.	RADIA|VARSCANS	.	GCTGGAGCTGC	NONE	.	.	.	.	.	ENSP00000349957	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357385	Transcript	.	.	ENSG00000141552	14452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APC11_HUMAN	ANAPC11	HGNC	.	.	UPI0000374311	SNV	ANAPC11,3_prime_UTR_variant,,ENST00000357385,;ANAPC11,3_prime_UTR_variant,,ENST00000575195,;ANAPC11,3_prime_UTR_variant,,ENST00000574924,;ANAPC11,3_prime_UTR_variant,,ENST00000344877,;ANAPC11,3_prime_UTR_variant,,ENST00000579978,;ANAPC11,3_prime_UTR_variant,,ENST00000577425,;ANAPC11,3_prime_UTR_variant,,ENST00000583839,;ANAPC11,3_prime_UTR_variant,,ENST00000577747,;ANAPC11,3_prime_UTR_variant,,ENST00000571570,;ANAPC11,3_prime_UTR_variant,,ENST00000571874,;ANAPC11,3_prime_UTR_variant,,ENST00000579133,;ANAPC11,3_prime_UTR_variant,,ENST00000572851,;ANAPC11,3_prime_UTR_variant,,ENST00000571024,;ANAPC11,3_prime_UTR_variant,,ENST00000392376,;ANAPC11,3_prime_UTR_variant,,ENST00000572639,;PCYT2,downstream_gene_variant,,ENST00000572995,;PCYT2,downstream_gene_variant,,ENST00000576343,;NPB,upstream_gene_variant,,ENST00000333383,;ANAPC11,downstream_gene_variant,,ENST00000578544,;PCYT2,downstream_gene_variant,,ENST00000570391,;PCYT2,downstream_gene_variant,,ENST00000331285,;PCYT2,downstream_gene_variant,,ENST00000538936,;PCYT2,downstream_gene_variant,,ENST00000571105,;ANAPC11,downstream_gene_variant,,ENST00000585259,;ANAPC11,downstream_gene_variant,,ENST00000584197,;PCYT2,downstream_gene_variant,,ENST00000538721,;PCYT2,downstream_gene_variant,,ENST00000570388,;NPB,upstream_gene_variant,,ENST00000573081,;ANAPC11,downstream_gene_variant,,ENST00000578550,;ANAPC11,non_coding_transcript_exon_variant,,ENST00000573956,;PCYT2,downstream_gene_variant,,ENST00000572924,;PCYT2,downstream_gene_variant,,ENST00000574343,;	806	38	27	SUCCESS
FPR1	2357	.	GRCh37	19	52249027	52249027	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000304748.4:c.*168T>C			ENST00000304748	NM_002029.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12839.1	.	MUTECT|MUSE	.	ATAATAAACTC	NONE	.	.	.	.	.	ENSP00000471493	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000595042	Transcript	.	.	ENSG00000171051	3826	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FPR1_HUMAN	FPR1	HGNC	M0R315_HUMAN,M0QZT0_HUMAN	.	UPI0000050484	SNV	FPR1,3_prime_UTR_variant,,ENST00000304748,;FPR1,3_prime_UTR_variant,,ENST00000595042,;FPR1,downstream_gene_variant,,ENST00000594900,;FPR1,downstream_gene_variant,,ENST00000600815,;	1363	8	10	SUCCESS
ZNF415	55786	.	GRCh37	19	53611595	53611595	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	13	0	ENST00000500065.4:c.*35T>A			ENST00000500065	NM_001136038.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54313.1	.	MUTECT|MUSE	.	GACTCACAGGA	NONE	.	.	.	.	.	ENSP00000439435	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000500065	Transcript	.	.	ENSG00000170954	20636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN415_HUMAN	ZNF415	HGNC	.	.	UPI0000E04BC1	SNV	ZNF415,3_prime_UTR_variant,,ENST00000440291,;ZNF415,3_prime_UTR_variant,,ENST00000455735,;ZNF415,3_prime_UTR_variant,,ENST00000448501,;ZNF415,3_prime_UTR_variant,,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000500065,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000243643,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000421033,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF160,upstream_gene_variant,,ENST00000429604,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF160,upstream_gene_variant,,ENST00000418871,;ZNF160,upstream_gene_variant,,ENST00000355147,;ZNF160,upstream_gene_variant,,ENST00000599247,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF160,upstream_gene_variant,,ENST00000599056,;ZNF160,upstream_gene_variant,,ENST00000599637,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF160,upstream_gene_variant,,ENST00000594760,;ZNF160,upstream_gene_variant,,ENST00000602095,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF160,upstream_gene_variant,,ENST00000596388,;ZNF160,upstream_gene_variant,,ENST00000596966,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;ZNF160,upstream_gene_variant,,ENST00000597112,;ZNF160,upstream_gene_variant,,ENST00000600924,;	2037	13	20	SUCCESS
BRSK1	84446	.	GRCh37	19	55823449	55823449	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs748324095	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	58	0	ENST00000309383.1:c.*13G>A			ENST00000309383	NM_032430.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12921.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCGGGGAG	NONE	.	.	.	.	.	ENSP00000310649	.	19/19	.	.	.	.	.	.	.	.	rs748324095	19/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,3_prime_UTR_variant,,ENST00000309383,;BRSK1,3_prime_UTR_variant,,ENST00000590333,;BRSK1,3_prime_UTR_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000585918,;TMEM150B,downstream_gene_variant,,ENST00000438693,;TMEM150B,downstream_gene_variant,,ENST00000326652,;TMEM150B,downstream_gene_variant,,ENST00000591570,;CTD-2105E13.14,non_coding_transcript_exon_variant,,ENST00000596786,;TMEM150B,downstream_gene_variant,,ENST00000592731,;TMEM150B,downstream_gene_variant,,ENST00000586609,;TMEM150B,downstream_gene_variant,,ENST00000592603,;	2627	58	57	SUCCESS
BRSK1	84446	.	GRCh37	19	55823450	55823450	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	19	57	0	ENST00000309383.1:c.*14G>A			ENST00000309383	NM_032430.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12921.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCGGGGAGG	NONE	.	.	.	.	.	ENSP00000310649	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000309383	Transcript	.	.	ENSG00000160469	18994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRSK1_HUMAN	BRSK1	HGNC	K7EM68_HUMAN,J3KNK0_HUMAN	.	UPI0000070495	SNV	BRSK1,3_prime_UTR_variant,,ENST00000309383,;BRSK1,3_prime_UTR_variant,,ENST00000590333,;BRSK1,3_prime_UTR_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000585918,;TMEM150B,downstream_gene_variant,,ENST00000438693,;TMEM150B,downstream_gene_variant,,ENST00000326652,;TMEM150B,downstream_gene_variant,,ENST00000591570,;CTD-2105E13.14,non_coding_transcript_exon_variant,,ENST00000596786,;TMEM150B,downstream_gene_variant,,ENST00000592731,;TMEM150B,downstream_gene_variant,,ENST00000586609,;TMEM150B,downstream_gene_variant,,ENST00000592603,;	2628	57	56	SUCCESS
INADL	0	.	GRCh37	1	62626722	62626722	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	20	0	ENST00000371158.2:c.*115C>A			ENST00000371158	NM_176877.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS617.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTCATGAG	NONE	.	.	.	.	.	ENSP00000360200	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000371158	Transcript	.	.	ENSG00000132849	28881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INADL_HUMAN	INADL	HGNC	.	.	UPI0000204487	SNV	INADL,3_prime_UTR_variant,,ENST00000371158,;INADL,3_prime_UTR_variant,,ENST00000484937,;	5635	20	17	SUCCESS
MCAT	27349	.	GRCh37	22	43528999	43528999	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	23	45	0	ENST00000290429.6:c.*50C>G			ENST00000290429	NM_173467.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGCCTCT	NONE	.	.	.	.	.	ENSP00000290429	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290429	Transcript	.	.	ENSG00000100294	29622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FABD_HUMAN	MCAT	HGNC	.	.	UPI000003B003	SNV	MCAT,3_prime_UTR_variant,,ENST00000290429,;MCAT,3_prime_UTR_variant,,ENST00000327555,;BIK,downstream_gene_variant,,ENST00000216115,;	1269	45	45	SUCCESS
SOX4	6659	.	GRCh37	6	21596505	21596505	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	49	0	ENST00000244745.1:c.*315A>G			ENST00000244745	NM_003107.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4547.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CAAAAAAAAAA	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;	2534	49	33	SUCCESS
CHRNA2	1135	.	GRCh37	8	27319033	27319033	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	26	0	ENST00000407991.1:c.*113A>G			ENST00000407991	NM_000742.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6059.1	.	MUTECT|MUSE	.	CAGACTCCGCG	NONE	.	.	.	.	.	ENSP00000385026	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000407991	Transcript	1	.	ENSG00000120903	1956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHA2_HUMAN	CHRNA2	HGNC	E5RK67_HUMAN,E5RHQ4_HUMAN,E5RGT4_HUMAN,E5RGP6_HUMAN	.	UPI000013CA9F	SNV	CHRNA2,3_prime_UTR_variant,,ENST00000407991,;CHRNA2,3_prime_UTR_variant,,ENST00000520933,;PTK2B,downstream_gene_variant,,ENST00000338238,;PTK2B,downstream_gene_variant,,ENST00000517339,;PTK2B,downstream_gene_variant,,ENST00000420218,;PTK2B,downstream_gene_variant,,ENST00000544172,;CHRNA2,downstream_gene_variant,,ENST00000240132,;PTK2B,downstream_gene_variant,,ENST00000397501,;PTK2B,downstream_gene_variant,,ENST00000346049,;CHRNA2,3_prime_UTR_variant,,ENST00000523695,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000523529,;CHRNA2,non_coding_transcript_exon_variant,,ENST00000520600,;CHRNA2,downstream_gene_variant,,ENST00000522008,;PTK2B,downstream_gene_variant,,ENST00000522245,;	2312	26	22	SUCCESS
ARMCX3	51566	.	GRCh37	X	100881476	100881479	+	3_prime_UTR_variant	3'UTR	DEL	AAGA	AAGA	-	rs370300554	.	TCGA-DD-A11D-01	TCGA-DD-A11D-11	AAGA	AAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	143	40	208	0	ENST00000341189.4:c.*377_*380del			ENST00000341189	NM_016607.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14489.1	.	INDELOCATOR|VARSCANI	.	AAAAAGAAGAAAGAA	NONE	.	.	.	.	.	ENSP00000340672	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341189	Transcript	.	.	ENSG00000102401	24065	10	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARMX3_HUMAN	ARMCX3	HGNC	H3BV87_HUMAN,H3BM63_HUMAN	.	UPI000004C63E	deletion	ARMCX3,3_prime_UTR_variant,,ENST00000341189,;ARMCX3,3_prime_UTR_variant,,ENST00000537169,;ARMCX3,downstream_gene_variant,,ENST00000479298,;ARMCX3,downstream_gene_variant,,ENST00000471229,;ARMCX3,downstream_gene_variant,,ENST00000491568,;ARMCX3-AS1,upstream_gene_variant,,ENST00000454228,;RP4-545K15.5,upstream_gene_variant,,ENST00000564612,;ARMCX3,downstream_gene_variant,,ENST00000467808,;ARMCX3,downstream_gene_variant,,ENST00000477980,;	2373-2376	208	183	SUCCESS
NELL2	4753	.	GRCh37	12	45270410	45270410	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	28	0				ENST00000429094	NM_001145108.1	33		0	.	.	.	.	.	C	R	protein_coding	YES	CCDS44863.1	99	RADIA|VARSCANS	.	GCGTGTCTTGA	NONE	.	.	.	.	.	ENSP00000416341	.	1/21	.	.	.	.	.	.	.	.	.	1/21	PASS	ENST00000437801	Transcript	.	.	ENSG00000184613	7751	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NELL2_HUMAN	NELL2	HGNC	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN	.	UPI000191537D	SNV	NELL2,synonymous_variant,p.%3D,ENST00000437801,;NELL2,intron_variant,,ENST00000333837,;NELL2,intron_variant,,ENST00000552993,;NELL2,intron_variant,,ENST00000551949,;NELL2,upstream_gene_variant,,ENST00000549027,;NELL2,upstream_gene_variant,,ENST00000553120,;NELL2,upstream_gene_variant,,ENST00000548826,;NELL2,upstream_gene_variant,,ENST00000551601,;NELL2,upstream_gene_variant,,ENST00000548531,;NELL2,upstream_gene_variant,,ENST00000429094,;NELL2,upstream_gene_variant,,ENST00000452445,;NELL2,upstream_gene_variant,,ENST00000395487,;Y_RNA,downstream_gene_variant,,ENST00000364918,;NELL2,upstream_gene_variant,,ENST00000547751,;NELL2,upstream_gene_variant,,ENST00000546415,;	471	28	32	SUCCESS
UBR1	197131	.	GRCh37	15	43237492	43237492	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs767638019	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	22	168	0	ENST00000290650.4:c.*35G>A			ENST00000290650	NM_174916.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10091.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTCGTCAT	NONE	.	.	.	.	.	ENSP00000290650	.	47/47	.	.	.	.	.	.	.	.	rs767638019	47/47	PASS	ENST00000290650	Transcript	1	.	ENSG00000159459	16808	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBR1_HUMAN	UBR1	HGNC	.	.	UPI0000074467	SNV	UBR1,3_prime_UTR_variant,,ENST00000382177,;UBR1,3_prime_UTR_variant,,ENST00000290650,;UBR1,non_coding_transcript_exon_variant,,ENST00000562173,;FDPSP4,upstream_gene_variant,,ENST00000534629,;	5364	168	111	SUCCESS
C19orf69	0	.	GRCh37	19	41950189	41950189	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	30	0	ENST00000378187.2:c.*60A>G			ENST00000378187	NM_001130514.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46085.1	.	RADIA|VARSCANS	.	GGAGAAGGGAG	NONE	.	.	.	.	.	ENSP00000367429	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000378187	Transcript	.	.	ENSG00000204978	34497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CS069_HUMAN	C19orf69	HGNC	.	.	UPI00017503B7	SNV	C19orf69,3_prime_UTR_variant,,ENST00000378187,;ATP5SL,upstream_gene_variant,,ENST00000438807,;ATP5SL,upstream_gene_variant,,ENST00000221943,;ATP5SL,upstream_gene_variant,,ENST00000417807,;ATP5SL,upstream_gene_variant,,ENST00000592922,;ATP5SL,upstream_gene_variant,,ENST00000589102,;ATP5SL,upstream_gene_variant,,ENST00000597457,;ATP5SL,upstream_gene_variant,,ENST00000589970,;ATP5SL,upstream_gene_variant,,ENST00000595425,;ATP5SL,upstream_gene_variant,,ENST00000301183,;ATP5SL,upstream_gene_variant,,ENST00000586786,;ATP5SL,upstream_gene_variant,,ENST00000590641,;ATP5SL,upstream_gene_variant,,ENST00000589503,;ATP5SL,upstream_gene_variant,,ENST00000597608,;ATP5SL,upstream_gene_variant,,ENST00000594339,;ATP5SL,upstream_gene_variant,,ENST00000595407,;	465	30	23	SUCCESS
KLK4	9622	.	GRCh37	19	51410092	51410092	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	4	27	0	ENST00000324041.1:c.*98G>A			ENST00000324041	NM_004917.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12809.1	.	MUTECT|MUSE	.	GGACTCCTGGG	NONE	.	.	.	.	.	ENSP00000326159	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000324041	Transcript	1	.	ENSG00000167749	6365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK4_HUMAN	KLK4	HGNC	Q96RU5_HUMAN,Q96PT1_HUMAN,Q96JD9_HUMAN	.	UPI0000037168	SNV	KLK4,3_prime_UTR_variant,,ENST00000324041,;KLK4,downstream_gene_variant,,ENST00000431178,;KLK4,upstream_gene_variant,,ENST00000597441,;KLK4,downstream_gene_variant,,ENST00000596876,;KLK4,downstream_gene_variant,,ENST00000599865,;KLK4,downstream_gene_variant,,ENST00000593885,;KLK4,downstream_gene_variant,,ENST00000598305,;KLK4,downstream_gene_variant,,ENST00000602148,;	863	27	30	SUCCESS
LRRN2	10446	.	GRCh37	1	204586941	204586941	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	18	46	0	ENST00000367175.1:c.*38A>G			ENST00000367175				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1448.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAGTCCTAG	NONE	.	.	.	.	.	ENSP00000356143	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367175	Transcript	.	.	ENSG00000170382	16914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRN2_HUMAN	LRRN2	HGNC	B3KM66_HUMAN	.	UPI000013E8AC	SNV	LRRN2,3_prime_UTR_variant,,ENST00000367177,;LRRN2,3_prime_UTR_variant,,ENST00000367176,;LRRN2,3_prime_UTR_variant,,ENST00000367175,;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	4393	46	84	SUCCESS
SERTAD2	9792	.	GRCh37	2	64863033	64863033	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	8	70	0	ENST00000313349.3:c.*28C>T			ENST00000313349	NM_014755.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33210.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGGTGGGC	NONE	.	.	.	.	.	ENSP00000326933	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313349	Transcript	.	.	ENSG00000179833	30784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRTD2_HUMAN	SERTAD2	HGNC	.	.	UPI000004EC6D	SNV	SERTAD2,3_prime_UTR_variant,,ENST00000313349,;SERTAD2,downstream_gene_variant,,ENST00000476805,;	1271	70	67	SUCCESS
TNPO1	3842	.	GRCh37	5	72201255	72201255	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs539446034	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	38	103	0	ENST00000337273.5:c.*18G>A			ENST00000337273	NM_002270.3			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS43329.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTGCAGTC	NONE	by1000G	.	.	A:0	.	ENSP00000336712	A:0	24/25	.	.	.	.	.	.	.	.	rs539446034	24/25	PASS	ENST00000337273	Transcript	.	A:0.0002	ENSG00000083312	6401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	TNPO1_HUMAN	TNPO1	HGNC	S4R398_HUMAN	.	UPI000020CAB6	SNV	TNPO1,3_prime_UTR_variant,,ENST00000523768,;TNPO1,3_prime_UTR_variant,,ENST00000506351,;TNPO1,3_prime_UTR_variant,,ENST00000337273,;TNPO1,3_prime_UTR_variant,,ENST00000454282,;TNPO1,3_prime_UTR_variant,,ENST00000605210,;TNPO1,non_coding_transcript_exon_variant,,ENST00000503084,;	3141	103	109	SUCCESS
RNF182	221687	.	GRCh37	6	13978158	13978158	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	35	181	0	ENST00000488300.1:c.*64A>G			ENST00000488300	NM_152737.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4531.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTTATAATT	NONE	.	.	.	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	SNV	RNF182,3_prime_UTR_variant,,ENST00000537663,;RNF182,3_prime_UTR_variant,,ENST00000544682,;RNF182,3_prime_UTR_variant,,ENST00000488300,;RNF182,3_prime_UTR_variant,,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000488763,;	1331	181	148	SUCCESS
CNKSR3	154043	.	GRCh37	6	154727467	154727467	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	17	101	0	ENST00000607772.1:c.*21C>T			ENST00000607772	NM_173515.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5246.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGTGGCC	NONE	.	.	.	.	.	ENSP00000475915	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000607772	Transcript	.	.	ENSG00000153721	23034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNKR3_HUMAN	CNKSR3	HGNC	C9JN62_HUMAN,C9IZX4_HUMAN	.	UPI000020D0EA	SNV	CNKSR3,3_prime_UTR_variant,,ENST00000607772,;CNKSR3,3_prime_UTR_variant,,ENST00000433165,;CNKSR3,3_prime_UTR_variant,,ENST00000479339,;CNKSR3,downstream_gene_variant,,ENST00000424998,;	2234	101	64	SUCCESS
REXO1L1P	254958	.	GRCh37	8	86572554	86572554	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs776446081	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	8	0	ENST00000379010.2:c.*1145A>G			ENST00000379010	NM_172239.4			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CTCATTCTTTT	NONE	.	.	.	.	.	ENSP00000368295	.	1/1	.	.	.	.	.	.	.	.	rs776446081	1/1	PASS	ENST00000379010	Transcript	.	.	ENSG00000205176	24660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GOR_HUMAN	REXO1L1P	HGNC	.	.	UPI000057A11F	SNV	REXO1L1P,3_prime_UTR_variant,,ENST00000379010,;REXO1L3P,upstream_gene_variant,,ENST00000608646,;	3173	8	11	SUCCESS
TMEM255A	55026	.	GRCh37	X	119394632	119394632	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1E9-01	TCGA-DD-A1E9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	23	0	ENST00000309720.5:c.*93T>C			ENST00000309720	NM_017938.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14597.1	.	MUTECT|MUSE	.	GCATAAGAGTC	NONE	.	.	.	.	.	ENSP00000310110	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000309720	Transcript	.	.	ENSG00000125355	26086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T255A_HUMAN	TMEM255A	HGNC	.	.	UPI0000246DA1	SNV	TMEM255A,3_prime_UTR_variant,,ENST00000371369,;TMEM255A,3_prime_UTR_variant,,ENST00000440464,;TMEM255A,3_prime_UTR_variant,,ENST00000371352,;TMEM255A,3_prime_UTR_variant,,ENST00000309720,;ZBTB33,downstream_gene_variant,,ENST00000326624,;	1267	23	27	SUCCESS
BTBD11	121551	.	GRCh37	12	108051543	108051543	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	41	0	ENST00000280758.5:c.*48C>A			ENST00000280758	NM_001018072.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31893.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTGCCGCAT	NONE	.	.	.	.	.	ENSP00000280758	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,3_prime_UTR_variant,,ENST00000280758,;BTBD11,3_prime_UTR_variant,,ENST00000357167,;BTBD11,downstream_gene_variant,,ENST00000494235,;BTBD11,downstream_gene_variant,,ENST00000420571,;	3891	41	61	SUCCESS
DGKA	1606	.	GRCh37	12	56347562	56347562	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	59	0	ENST00000331886.5:c.*10C>G			ENST00000331886	NM_001345.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8896.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACACCCTTGG	NONE	.	.	.	.	.	ENSP00000328405	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000331886	Transcript	.	.	ENSG00000065357	2849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DGKA_HUMAN	DGKA	HGNC	G3V4I3_HUMAN,G3V327_HUMAN,F8W1M3_HUMAN,F8W1H7_HUMAN,F8VWX8_HUMAN,F8VNZ9_HUMAN,C9JM35_HUMAN	.	UPI000007417B	SNV	DGKA,3_prime_UTR_variant,,ENST00000394147,;DGKA,3_prime_UTR_variant,,ENST00000331886,;DGKA,3_prime_UTR_variant,,ENST00000551156,;PMEL,downstream_gene_variant,,ENST00000549233,;PMEL,downstream_gene_variant,,ENST00000546543,;PMEL,downstream_gene_variant,,ENST00000536427,;PMEL,downstream_gene_variant,,ENST00000549404,;PMEL,downstream_gene_variant,,ENST00000552882,;PMEL,downstream_gene_variant,,ENST00000360714,;PMEL,downstream_gene_variant,,ENST00000548493,;PMEL,downstream_gene_variant,,ENST00000449260,;PMEL,downstream_gene_variant,,ENST00000548747,;PMEL,downstream_gene_variant,,ENST00000550447,;PMEL,downstream_gene_variant,,ENST00000550464,;PMEL,downstream_gene_variant,,ENST00000539511,;PMEL,downstream_gene_variant,,ENST00000549418,;DGKA,downstream_gene_variant,,ENST00000552903,;DGKA,downstream_gene_variant,,ENST00000555218,;PMEL,downstream_gene_variant,,ENST00000547137,;PMEL,downstream_gene_variant,,ENST00000548803,;DGKA,non_coding_transcript_exon_variant,,ENST00000549079,;PMEL,downstream_gene_variant,,ENST00000548689,;PMEL,downstream_gene_variant,,ENST00000549564,;DGKA,3_prime_UTR_variant,,ENST00000402956,;DGKA,non_coding_transcript_exon_variant,,ENST00000552478,;DGKA,non_coding_transcript_exon_variant,,ENST00000551296,;DGKA,non_coding_transcript_exon_variant,,ENST00000551739,;DGKA,non_coding_transcript_exon_variant,,ENST00000548491,;DGKA,downstream_gene_variant,,ENST00000553084,;DGKA,downstream_gene_variant,,ENST00000550957,;PMEL,downstream_gene_variant,,ENST00000550762,;PMEL,downstream_gene_variant,,ENST00000556802,;DGKA,downstream_gene_variant,,ENST00000551585,;PMEL,downstream_gene_variant,,ENST00000549430,;PMEL,downstream_gene_variant,,ENST00000550590,;	2672	59	56	SUCCESS
PABPC3	5042	.	GRCh37	13	25672474	25672474	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	42	166	1	ENST00000281589.3:c.*242A>T			ENST00000281589	NM_030979.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9311.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GATTTAAAAAC	NONE	.	.	.	.	.	ENSP00000281589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000281589	Transcript	.	.	ENSG00000151846	8556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PABP3_HUMAN	PABPC3	HGNC	Q5VX58_HUMAN,Q2VIP3_HUMAN	.	UPI00001311AB	SNV	PABPC3,3_prime_UTR_variant,,ENST00000281589,;	2175	167	92	SUCCESS
SH2D1B	117157	.	GRCh37	1	162367065	162367065	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	145	65	123	0	ENST00000367929.2:c.*5A>T			ENST00000367929	NM_053282.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30928.1	.	RADIA|MUTECT|MUSE	.	AGCCTTATCTT	NONE	.	.	.	.	.	ENSP00000356906	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367929	Transcript	.	.	ENSG00000198574	30416	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SH21B_HUMAN	SH2D1B	HGNC	.	.	UPI00000015D1	SNV	SH2D1B,3_prime_UTR_variant,,ENST00000367929,;SH2D1B,3_prime_UTR_variant,,ENST00000359567,;	514	123	210	SUCCESS
RHOU	58480	.	GRCh37	1	228879612	228879612	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	27	0	ENST00000366691.3:c.*125G>A			ENST00000366691	NM_021205.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1575.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGAGGAGCT	NONE	.	.	.	.	.	ENSP00000355652	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366691	Transcript	.	.	ENSG00000116574	17794	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOU_HUMAN	RHOU	HGNC	.	.	UPI0000073CDF	SNV	RHOU,3_prime_UTR_variant,,ENST00000366691,;RHOU,upstream_gene_variant,,ENST00000473307,;RHOU,upstream_gene_variant,,ENST00000493528,;	1568	27	19	SUCCESS
MAP10	54627	.	GRCh37	1	232944949	232944949	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	274	105	616	0	ENST00000418460.1:c.*1036del			ENST00000418460	NM_019090.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44334.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTATATTTAG	NONE	.	.	.	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	deletion	MAP10,3_prime_UTR_variant,,ENST00000418460,;	4307	616	379	SUCCESS
MYO18B	84700	.	GRCh37	22	26423679	26423679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	36	0	ENST00000536101.1:c.*35A>C			ENST00000536101				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54507.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCTATTCTT	NONE	.	.	.	.	.	ENSP00000334563	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335473	Transcript	.	.	ENSG00000133454	18150	.	.	MODIFIER	43/43	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO18B	HGNC	Q8N903_HUMAN	.	UPI0000207402	SNV	MYO18B,3_prime_UTR_variant,,ENST00000536101,;MYO18B,intron_variant,,ENST00000335473,;MYO18B,intron_variant,,ENST00000543971,;MYO18B,intron_variant,,ENST00000407587,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;MYO18B,intron_variant,,ENST00000540454,;MYO18B,intron_variant,,ENST00000539302,;	.	36	37	SUCCESS
TFCP2L1	29842	.	GRCh37	2	121981777	121981777	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	16	0	ENST00000263707.5:c.*140G>A			ENST00000263707	NM_014553.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2134.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTCTGTAG	NONE	.	.	.	.	.	ENSP00000263707	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000263707	Transcript	.	.	ENSG00000115112	17925	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF2L1_HUMAN	TFCP2L1	HGNC	Q5JV87_HUMAN,Q53RS7_HUMAN	.	UPI0000072817	SNV	TFCP2L1,3_prime_UTR_variant,,ENST00000263707,;TFCP2L1,non_coding_transcript_exon_variant,,ENST00000464621,;	1678	16	17	SUCCESS
MUC4	4585	.	GRCh37	3	195473966	195473966	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1269380965	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	12	0	ENST00000463781.3:c.*81T>C			ENST00000463781	NM_018406.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54700.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTCCAGTCTC	NONE	.	.	.	.	.	ENSP00000417498	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,3_prime_UTR_variant,,ENST00000463781,;MUC4,3_prime_UTR_variant,,ENST00000346145,;MUC4,3_prime_UTR_variant,,ENST00000349607,;MUC4,3_prime_UTR_variant,,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,downstream_gene_variant,,ENST00000469992,;MUC4,downstream_gene_variant,,ENST00000464234,;MUC4,downstream_gene_variant,,ENST00000467235,;	16780	12	16	SUCCESS
MUC4	4585	.	GRCh37	3	195473978	195473978	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	15	0	ENST00000463781.3:c.*69del			ENST00000463781	NM_018406.6			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS54700.1	.	INDELOCATOR|VARSCANI	.	CCAAAAGCAATG	NONE	.	.	.	.	.	ENSP00000417498	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	deletion	MUC4,3_prime_UTR_variant,,ENST00000463781,;MUC4,3_prime_UTR_variant,,ENST00000346145,;MUC4,3_prime_UTR_variant,,ENST00000349607,;MUC4,3_prime_UTR_variant,,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,3_prime_UTR_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,downstream_gene_variant,,ENST00000469992,;MUC4,downstream_gene_variant,,ENST00000464234,;MUC4,downstream_gene_variant,,ENST00000467235,;	16768	15	19	SUCCESS
CRIP3	401262	.	GRCh37	6	43273593	43273593	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	114	53	162	0	ENST00000274990.4:c.*111G>C			ENST00000274990		192		0	.	.	.	.	.	G	G/R	protein_coding	YES	CCDS4894.2	574	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCCCACAT	NONE	.	.	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,Superfamily_domains:SSF57716	.	.	ENSP00000361650	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,missense_variant,p.Gly192Arg,ENST00000372569,;CRIP3,3_prime_UTR_variant,,ENST00000451294,;CRIP3,3_prime_UTR_variant,,ENST00000274990,;CRIP3,intron_variant,,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;CRIP3,downstream_gene_variant,,ENST00000487744,;CRIP3,downstream_gene_variant,,ENST00000485819,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	579	162	167	SUCCESS
FBXL13	222235	.	GRCh37	7	102453725	102453725	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	148	102	303	0	ENST00000313221.4:c.*64A>G			ENST00000313221	NM_145032.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5726.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTTGCAAC	NONE	.	.	.	.	.	ENSP00000321927	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000313221	Transcript	.	.	ENSG00000161040	21658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FXL13_HUMAN	FBXL13	HGNC	.	.	UPI000020F830	SNV	FBXL13,3_prime_UTR_variant,,ENST00000379306,;FBXL13,3_prime_UTR_variant,,ENST00000393772,;FBXL13,3_prime_UTR_variant,,ENST00000456695,;FBXL13,3_prime_UTR_variant,,ENST00000313221,;FBXL13,3_prime_UTR_variant,,ENST00000455112,;FBXL13,3_prime_UTR_variant,,ENST00000379305,;FBXL13,3_prime_UTR_variant,,ENST00000436908,;FBXL13,3_prime_UTR_variant,,ENST00000379308,;FAM185A,downstream_gene_variant,,ENST00000409231,;FAM185A,downstream_gene_variant,,ENST00000413034,;FBXL13,non_coding_transcript_exon_variant,,ENST00000480422,;FBXL13,3_prime_UTR_variant,,ENST00000448002,;FAM185A,downstream_gene_variant,,ENST00000442873,;FAM185A,downstream_gene_variant,,ENST00000420217,;	2699	303	250	SUCCESS
ZNF395	55893	.	GRCh37	8	28206219	28206219	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	4	28	0	ENST00000344423.5:c.*17T>A			ENST00000344423	NM_018660.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6067.1	.	MUTECT|VARSCANS	.	AGAGTAGAACC	NONE	.	.	.	.	.	ENSP00000340494	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000344423	Transcript	.	.	ENSG00000186918	18737	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN395_HUMAN	ZNF395	HGNC	E5RH90_HUMAN,E5RGF1_HUMAN,E5RG59_HUMAN,E5RFV4_HUMAN	.	UPI0000073F08	SNV	ZNF395,3_prime_UTR_variant,,ENST00000344423,;ZNF395,3_prime_UTR_variant,,ENST00000523095,;ZNF395,3_prime_UTR_variant,,ENST00000523202,;ZNF395,3_prime_UTR_variant,,ENST00000520535,;FBXO16,3_prime_UTR_variant,,ENST00000521548,;ZNF395,downstream_gene_variant,,ENST00000517372,;	1691	28	40	SUCCESS
PDP1	54704	.	GRCh37	8	94937436	94937436	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	100	219	0	ENST00000297598.4:c.*1535C>G			ENST00000297598	NM_018444.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55262.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCAGTGT	NONE	.	.	.	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	SNV	PDP1,3_prime_UTR_variant,,ENST00000396200,;PDP1,3_prime_UTR_variant,,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000517764,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000520728,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	3500	219	208	SUCCESS
LHX6	26468	.	GRCh37	9	124966851	124966851	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	54	0	ENST00000373755.2:c.*188C>G			ENST00000373755	NM_001242334.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6838.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCTGGTGGGT	NONE	.	.	.	.	.	ENSP00000377854	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000394319	Transcript	.	.	ENSG00000106852	21735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LHX6_HUMAN	LHX6	HGNC	H0YMY8_HUMAN,Q3SY65_HUMAN,H0YMH3_HUMAN	.	UPI0000E0BF7D	SNV	LHX6,3_prime_UTR_variant,,ENST00000482062,;LHX6,3_prime_UTR_variant,,ENST00000373755,;LHX6,3_prime_UTR_variant,,ENST00000464484,;LHX6,3_prime_UTR_variant,,ENST00000340587,;LHX6,3_prime_UTR_variant,,ENST00000394319,;LHX6,3_prime_UTR_variant,,ENST00000373754,;LHX6,3_prime_UTR_variant,,ENST00000559895,;LHX6,3_prime_UTR_variant,,ENST00000541397,;MORN5,downstream_gene_variant,,ENST00000373764,;MORN5,downstream_gene_variant,,ENST00000486801,;	1472	54	65	SUCCESS
DOCK11	139818	.	GRCh37	X	117819877	117819877	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs191796869	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	52	0	ENST00000276202.7:c.*107G>C			ENST00000276202	NM_144658.3			0	.	A:0.0182	.	A:0.0029	.	C	.	protein_coding	YES	CCDS35373.1	.	MUTECT|MUSE	.	TTCTCGACACC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000276202	A:0	53/53	.	.	.	.	.	.	.	.	rs191796869	53/53	PASS	ENST00000276202	Transcript	.	A:0.0069	ENSG00000147251	23483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,3_prime_UTR_variant,,ENST00000276204,;DOCK11,3_prime_UTR_variant,,ENST00000276202,;	6392	52	34	SUCCESS
ELK1	2002	.	GRCh37	X	47496222	47496222	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EB-01	TCGA-DD-A1EB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	44	76	0	ENST00000247161.3:c.*6A>G			ENST00000247161	NM_005229.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14283.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGTAGTAG	NONE	.	.	.	.	.	ENSP00000247161	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000247161	Transcript	.	.	ENSG00000126767	3321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELK1_HUMAN	ELK1	HGNC	Q8N9S0_HUMAN,Q86SR6_HUMAN,K7ENR1_HUMAN	.	UPI0000129E66	SNV	ELK1,3_prime_UTR_variant,,ENST00000247161,;ELK1,3_prime_UTR_variant,,ENST00000592066,;ELK1,3_prime_UTR_variant,,ENST00000376983,;ELK1,downstream_gene_variant,,ENST00000343894,;ELK1,non_coding_transcript_exon_variant,,ENST00000480157,;	1393	76	88	SUCCESS
KCNJ12	3768	.	GRCh37	17	21320086	21320086	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	561	42	691	0	ENST00000331718.5:c.*130T>C			ENST00000331718	NM_001194958.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11219.1	.	MUTECT|MUSE	.	TCGTTTTATGT	NONE	.	.	.	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,3_prime_UTR_variant,,ENST00000331718,;KCNJ12,3_prime_UTR_variant,,ENST00000583088,;	2327	691	604	SUCCESS
KLHL12	59349	.	GRCh37	1	202897704	202897716	+	upstream_gene_variant	5'Flank	DEL	ACAACGCTGCGGC	ACAACGCTGCGGC	-	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	ACAACGCTGCGGC	ACAACGCTGCGGC	.	.	.	.	.	.	.	.	.	.	.	.	.	54	10	81	0				ENST00000367261	NM_021633.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1429.1	.	INDELOCATOR*|PINDEL	.	GGCCGAACAACGCTGCGGCGAGAA	NONE	.	1314	.	.	.	ENSP00000356230	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367261	Transcript	.	.	ENSG00000117153	19360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLH12_HUMAN	KLHL12	HGNC	.	.	UPI000006EE6A	deletion	KLHL12,5_prime_UTR_variant,,ENST00000435533,;KLHL12,5_prime_UTR_variant,,ENST00000367258,;KLHL12,upstream_gene_variant,,ENST00000367261,;	.	81	64	SUCCESS
C1orf122	127687	.	GRCh37	1	38274776	38274776	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	18	89	0	ENST00000373042.4:c.*31T>C			ENST00000373042				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS427.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTCTCCCTC	NONE	.	.	.	.	.	ENSP00000362133	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373042	Transcript	.	.	ENSG00000197982	24789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA122_HUMAN	C1orf122	HGNC	.	.	UPI00001D7EAD	SNV	C1orf122,synonymous_variant,p.%3D,ENST00000446260,;C1orf122,3_prime_UTR_variant,,ENST00000373042,;C1orf122,3_prime_UTR_variant,,ENST00000468084,;C1orf122,3_prime_UTR_variant,,ENST00000373043,;MTF1,downstream_gene_variant,,ENST00000373036,;YRDC,upstream_gene_variant,,ENST00000373044,;C1orf122,downstream_gene_variant,,ENST00000419397,;	623	89	99	SUCCESS
DDX17	10521	.	GRCh37	22	38881912	38881912	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A1EC-01	TCGA-DD-A1EC-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	42	0	ENST00000403230.1:c.*28A>C			ENST00000403230				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46706.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTCTGCTGG	NONE	.	.	.	.	.	ENSP00000380033	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000396821	Transcript	.	.	ENSG00000100201	2740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DDX17	HGNC	Q9UQL5_HUMAN,H3BLZ8_HUMAN	.	UPI0001AE634C	SNV	DDX17,3_prime_UTR_variant,,ENST00000444597,;DDX17,3_prime_UTR_variant,,ENST00000403230,;DDX17,3_prime_UTR_variant,,ENST00000396821,;DDX17,3_prime_UTR_variant,,ENST00000381633,;KDELR3,downstream_gene_variant,,ENST00000216014,;KDELR3,downstream_gene_variant,,ENST00000409006,;DDX17,downstream_gene_variant,,ENST00000432525,;KDELR3,downstream_gene_variant,,ENST00000471268,;DDX17,downstream_gene_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000431312,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;	2324	42	51	SUCCESS
PRKRA	8575	.	GRCh37	2	179296788	179296788	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	18	256	1	ENST00000325748.4:c.*36T>C			ENST00000325748	NM_003690.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2279.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTATGTGC	NONE	.	.	.	.	.	ENSP00000318176	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000325748	Transcript	.	.	ENSG00000180228	9438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRKRA_HUMAN	PRKRA	HGNC	G5E9Q4_HUMAN,B4DJC7_HUMAN	.	UPI0000073B07	SNV	PRKRA,3_prime_UTR_variant,,ENST00000432031,;PRKRA,3_prime_UTR_variant,,ENST00000438687,;PRKRA,3_prime_UTR_variant,,ENST00000325748,;PRKRA,3_prime_UTR_variant,,ENST00000487082,;AC009948.5,intron_variant,,ENST00000453026,;AC009948.5,intron_variant,,ENST00000436616,;AC009948.5,intron_variant,,ENST00000415236,;AC009948.5,intron_variant,,ENST00000454488,;AC009948.5,downstream_gene_variant,,ENST00000420672,;AC009948.5,downstream_gene_variant,,ENST00000450044,;PRKRA,3_prime_UTR_variant,,ENST00000424699,;PRKRA,non_coding_transcript_exon_variant,,ENST00000490501,;PRKRA,downstream_gene_variant,,ENST00000474793,;	1179	257	142	SUCCESS
FUT9	10690	.	GRCh37	6	96663385	96663385	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1ED-01	TCGA-DD-A1ED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	80	6	122	0	ENST00000302103.5:c.*11274G>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	MUTECT|MUSE	.	ATTTAGCACTG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	12680	122	86	SUCCESS
MRPL43	84545	.	GRCh37	10	102738456	102738456	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1021502196	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	48	1	ENST00000318325.2:c.*554G>A			ENST00000318325	NM_176792.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7504.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTACTCCCTTG	NONE	.	2678	.	.	.	ENSP00000339844	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342071	Transcript	.	.	ENSG00000055950	14517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MRPL43	HGNC	C9J5Q3_HUMAN	.	UPI0000167F88	SNV	MRPL43,3_prime_UTR_variant,,ENST00000318325,;SEMA4G,intron_variant,,ENST00000517724,;MRPL43,intron_variant,,ENST00000523148,;SEMA4G,intron_variant,,ENST00000210633,;SEMA4G,intron_variant,,ENST00000519649,;SEMA4G,intron_variant,,ENST00000370250,;MRPL43,downstream_gene_variant,,ENST00000370241,;MRPL43,downstream_gene_variant,,ENST00000299179,;MRPL43,downstream_gene_variant,,ENST00000448244,;MRPL43,downstream_gene_variant,,ENST00000342071,;MRPL43,downstream_gene_variant,,ENST00000370242,;SEMA4G,downstream_gene_variant,,ENST00000518124,;MIR608,downstream_gene_variant,,ENST00000384820,;RP11-108L7.4,downstream_gene_variant,,ENST00000447344,;SEMA4G,intron_variant,,ENST00000519756,;MRPL43,downstream_gene_variant,,ENST00000476012,;SEMA4G,intron_variant,,ENST00000521006,;SEMA4G,upstream_gene_variant,,ENST00000518948,;	.	49	52	SUCCESS
ANAPC15	25906	.	GRCh37	11	71819726	71819726	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	30	0				ENST00000227618	NM_001278485.1	211		0	.	.	.	.	.	A	L/M	protein_coding	YES	CCDS44668.1	631	MUTECT|MUSE	.	CAGACCTGGTG	NONE	.	.	PROSITE_profiles:PS51682,hmmpanther:PTHR10509,hmmpanther:PTHR10509:SF1,Pfam_domain:PF01596,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	.	.	ENSP00000409789	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.271)	.	tolerated(0.56)	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,missense_variant,p.Leu211Met,ENST00000435085,;LRTOMT,missense_variant,p.Leu211Met,ENST00000307198,;LRTOMT,missense_variant,p.Leu171Met,ENST00000419228,;LRTOMT,3_prime_UTR_variant,,ENST00000439209,;ANAPC15,intron_variant,,ENST00000502597,;ANAPC15,intron_variant,,ENST00000543050,;ANAPC15,downstream_gene_variant,,ENST00000537644,;ANAPC15,downstream_gene_variant,,ENST00000227618,;ANAPC15,downstream_gene_variant,,ENST00000545944,;ANAPC15,downstream_gene_variant,,ENST00000543587,;ANAPC15,downstream_gene_variant,,ENST00000545680,;ANAPC15,downstream_gene_variant,,ENST00000438939,;ANAPC15,downstream_gene_variant,,ENST00000535503,;ANAPC15,downstream_gene_variant,,ENST00000542531,;ANAPC15,downstream_gene_variant,,ENST00000538393,;ANAPC15,downstream_gene_variant,,ENST00000535234,;ANAPC15,downstream_gene_variant,,ENST00000545333,;ANAPC15,downstream_gene_variant,,ENST00000539395,;ANAPC15,downstream_gene_variant,,ENST00000538919,;snoU13,downstream_gene_variant,,ENST00000459046,;ANAPC15,downstream_gene_variant,,ENST00000543015,;LRTOMT,3_prime_UTR_variant,,ENST00000544409,;LRTOMT,3_prime_UTR_variant,,ENST00000427369,;LRTOMT,downstream_gene_variant,,ENST00000541899,;ANAPC15,downstream_gene_variant,,ENST00000538117,;	1723	30	51	SUCCESS
P2RY2	5029	.	GRCh37	11	72946821	72946821	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	151	0	ENST00000311131.2:c.*483G>A			ENST00000311131	NM_176072.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8219.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTGGAATGG	NONE	.	.	.	.	.	ENSP00000310305	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000311131	Transcript	.	.	ENSG00000175591	8541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY2_HUMAN	P2RY2	HGNC	.	.	UPI000013F103	SNV	P2RY2,3_prime_UTR_variant,,ENST00000393597,;P2RY2,3_prime_UTR_variant,,ENST00000311131,;P2RY2,3_prime_UTR_variant,,ENST00000393596,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	2084	151	97	SUCCESS
CDKN1B	1027	.	GRCh37	12	12871889	12871889	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	31	0	ENST00000228872.4:c.*8+1G>A			ENST00000228872	NM_004064.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8653.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTCGGTGGGT	NONE	.	.	.	.	.	ENSP00000228872	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000228872	Transcript	.	.	ENSG00000111276	1785	.	.	HIGH	2/2	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CDN1B_HUMAN	CDKN1B	HGNC	Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN	.	UPI0000035C92	SNV	CDKN1B,splice_donor_variant,,ENST00000228872,;CDKN1B,splice_donor_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000396340,;RP11-180M15.4,downstream_gene_variant,,ENST00000542291,;CDKN1B,splice_donor_variant,,ENST00000477087,;	.	31	40	SUCCESS
SLC38A2	54407	.	GRCh37	12	46754882	46754882	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs779918364	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	28	68	1	ENST00000256689.5:c.*12C>A			ENST00000256689	NM_018976.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8749.1	.	SOMATICSNIPER|VARSCANS	.	AGTTTGAGTGG	NONE	.	.	.	.	.	ENSP00000256689	.	16/16	.	.	.	.	.	.	.	.	rs779918364	16/16	PASS	ENST00000256689	Transcript	.	.	ENSG00000134294	13448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S38A2_HUMAN	SLC38A2	HGNC	.	.	UPI000000121A	SNV	SLC38A2,3_prime_UTR_variant,,ENST00000256689,;SLC38A2,3_prime_UTR_variant,,ENST00000551374,;SLC38A2,downstream_gene_variant,,ENST00000548870,;SLC38A2,downstream_gene_variant,,ENST00000548111,;SLC38A2,downstream_gene_variant,,ENST00000547252,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000552703,;SLC38A2,downstream_gene_variant,,ENST00000548785,;SLC38A2,downstream_gene_variant,,ENST00000552414,;SLC38A2,downstream_gene_variant,,ENST00000546520,;SLC38A2,downstream_gene_variant,,ENST00000548236,;	1978	69	67	SUCCESS
SYNJ2BP	55333	.	GRCh37	14	70883772	70883772	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs1013441636	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	27	61	0				ENST00000256366	NM_018373.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9803.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCGGTTT	NONE	.	10	.	.	.	ENSP00000256366	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000256366	Transcript	.	.	ENSG00000213463	18955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYJ2B_HUMAN	SYNJ2BP	HGNC	.	.	UPI00000373B1	SNV	SYNJ2BP,upstream_gene_variant,,ENST00000256366,;SYNJ2BP,non_coding_transcript_exon_variant,,ENST00000554216,;SYNJ2BP-COX16,upstream_gene_variant,,ENST00000555276,;	.	61	55	SUCCESS
OR4Q1P	81104	.	GRCh37	15	22332398	22332398	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	162	41	525	0				ENST00000557009				0	.	.	.	.	.	T	.	sense_overlapping	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGATATTCTT	NONE	.	.	.	.	.	.	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000558896	Transcript	.	.	ENSG00000259176	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-69H14.6	Clone_based_vega_gene	.	.	.	SNV	RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000560134,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000557855,;RP11-69H14.6,intron_variant,,ENST00000560193,;RP11-69H14.6,intron_variant,,ENST00000557817,;OR4Q1P,upstream_gene_variant,,ENST00000557009,;	205	525	203	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79588058	79588058	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1433294698	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	47	0	ENST00000421388.2:c.*824A>G			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCAGAAGC	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	2901	47	58	SUCCESS
OLFM3	118427	.	GRCh37	1	102312570	102312570	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs1298824864	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	36	57	0				ENST00000338858				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30781.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGATCCCGG	NONE	.	.	.	.	.	ENSP00000359121	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370103	Transcript	.	.	ENSG00000118733	17990	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOE3_HUMAN	OLFM3	HGNC	.	.	UPI000002AF6A	SNV	OLFM3,5_prime_UTR_variant,,ENST00000359814,;OLFM3,intron_variant,,ENST00000370103,;OLFM3,upstream_gene_variant,,ENST00000338858,;OLFM3,intron_variant,,ENST00000462354,;OLFM3,intron_variant,,ENST00000468901,;OLFM3,upstream_gene_variant,,ENST00000465523,;	.	57	94	SUCCESS
PUM1	9698	.	GRCh37	1	31538548	31538548	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	53	0				ENST00000257075	NM_014676.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44099.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGACAACAT	NONE	.	6	.	.	.	ENSP00000391723	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000426105	Transcript	.	.	ENSG00000134644	14957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PUM1_HUMAN	PUM1	HGNC	E9PL65_HUMAN	.	UPI0000203D8E	SNV	PUM1,missense_variant,p.Val10Ile,ENST00000525843,;PUM1,missense_variant,p.Val29Ile,ENST00000373742,;PUM1,missense_variant,p.Val29Ile,ENST00000373741,;PUM1,5_prime_UTR_variant,,ENST00000373747,;PUM1,upstream_gene_variant,,ENST00000426105,;PUM1,upstream_gene_variant,,ENST00000424085,;PUM1,upstream_gene_variant,,ENST00000423018,;PUM1,upstream_gene_variant,,ENST00000257075,;PUM1,upstream_gene_variant,,ENST00000440538,;PUM1,upstream_gene_variant,,ENST00000531867,;PUM1,upstream_gene_variant,,ENST00000525948,;PUM1,upstream_gene_variant,,ENST00000526215,;PUM1,upstream_gene_variant,,ENST00000524516,;PUM1,upstream_gene_variant,,ENST00000480602,;	.	53	44	SUCCESS
NSG1	27065	.	GRCh37	4	4419238	4419238	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	27	0	ENST00000433139.2:c.*76A>T			ENST00000433139				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3376.1	.	MUTECT|MUSE	.	ATATAATTACT	NONE	.	.	.	.	.	ENSP00000388823	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000421177	Transcript	.	.	ENSG00000168824	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NSG1_HUMAN	NSG1	Uniprot_gn	D3DVS7_HUMAN,B2R5R8_HUMAN	.	UPI0000130549	SNV	NSG1,3_prime_UTR_variant,,ENST00000504171,;NSG1,3_prime_UTR_variant,,ENST00000421177,;NSG1,3_prime_UTR_variant,,ENST00000505246,;NSG1,3_prime_UTR_variant,,ENST00000513555,;NSG1,3_prime_UTR_variant,,ENST00000397958,;NSG1,3_prime_UTR_variant,,ENST00000433139,;STX18,intron_variant,,ENST00000505286,;STX18,downstream_gene_variant,,ENST00000306200,;NSG1,downstream_gene_variant,,ENST00000506380,;NSG1,3_prime_UTR_variant,,ENST00000513829,;STX18,downstream_gene_variant,,ENST00000502267,;STX18,downstream_gene_variant,,ENST00000503692,;STX18,downstream_gene_variant,,ENST00000510296,;STX18,downstream_gene_variant,,ENST00000515687,;STX18,downstream_gene_variant,,ENST00000503861,;	2625	27	24	SUCCESS
FUT9	10690	.	GRCh37	6	96656107	96656107	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	52	156	0	ENST00000302103.5:c.*3996T>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTATTTTTAA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	5402	156	72	SUCCESS
EIF2AK1	27102	.	GRCh37	7	6063476	6063476	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	8	83	0	ENST00000199389.6:c.*828A>G			ENST00000199389	NM_001134335.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5345.1	.	MUTECT|MUSE|VARSCANS	.	TTCATTTTATT	NONE	.	.	.	.	.	ENSP00000199389	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000199389	Transcript	.	.	ENSG00000086232	24921	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	E2AK1_HUMAN	EIF2AK1	HGNC	Q75MR0_HUMAN	.	UPI0000161BAE	SNV	EIF2AK1,3_prime_UTR_variant,,ENST00000536084,;EIF2AK1,3_prime_UTR_variant,,ENST00000199389,;EIF2AK1,intron_variant,,ENST00000422786,;AIMP2,downstream_gene_variant,,ENST00000395236,;AIMP2,downstream_gene_variant,,ENST00000400479,;AIMP2,downstream_gene_variant,,ENST00000223029,;EIF2AK1,downstream_gene_variant,,ENST00000490523,;	2868	83	93	SUCCESS
PBDC1	51260	.	GRCh37	X	75397801	75397801	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs782591890	.	TCGA-DD-A1EE-01	TCGA-DD-A1EE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	155	146	2	ENST00000373358.3:c.*58G>T			ENST00000373358	NM_016500.3			0	.	A:0.0008	.	A:0	.	T	.	protein_coding	YES	CCDS14432.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ACCACGGTGCT	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000362456	A:0	6/6	.	.	.	.	.	.	.	.	rs782591890	6/6	PASS	ENST00000373358	Transcript	.	A:0.0003	ENSG00000102390	28790	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	PBDC1_HUMAN	PBDC1	HGNC	Q9P0N4_HUMAN	.	UPI0000072009	SNV	PBDC1,synonymous_variant,p.%3D,ENST00000373357,;PBDC1,3_prime_UTR_variant,,ENST00000373358,;	963	148	169	SUCCESS
LYZL2	119180	.	GRCh37	10	30900867	30900867	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs1200402874	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	49	121	0	ENST00000375318.2:c.*17G>C			ENST00000375318	NM_183058.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7167.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATCCTGGGT	NONE	.	.	.	.	.	ENSP00000364467	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000375318	Transcript	.	.	ENSG00000151033	29613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYZL2_HUMAN	LYZL2	HGNC	.	.	UPI0000160E06	SNV	LYZL2,3_prime_UTR_variant,,ENST00000375318,;	659	121	140	SUCCESS
THY1	7070	.	GRCh37	11	119290042	119290042	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs969246040	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	61	0	ENST00000284240.5:c.*76C>T			ENST00000284240	NM_006288.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8424.1	.	MUTECT|MUSE	.	GGAGGGGGTCA	NONE	.	.	.	.	.	ENSP00000284240	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284240	Transcript	.	.	ENSG00000154096	11801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THY1_HUMAN	THY1	HGNC	E9PIM6_HUMAN,B0YJA4_HUMAN	.	UPI0000136F1F	SNV	THY1,missense_variant,p.Pro158Leu,ENST00000524970,;THY1,3_prime_UTR_variant,,ENST00000528522,;THY1,3_prime_UTR_variant,,ENST00000284240,;THY1,downstream_gene_variant,,ENST00000524659,;THY1,downstream_gene_variant,,ENST00000580275,;USP2-AS1,intron_variant,,ENST00000500970,;USP2-AS1,intron_variant,,ENST00000578923,;USP2-AS1,intron_variant,,ENST00000498979,;USP2-AS1,intron_variant,,ENST00000530002,;RP11-334E6.12,downstream_gene_variant,,ENST00000578216,;THY1,non_coding_transcript_exon_variant,,ENST00000527590,;THY1,3_prime_UTR_variant,,ENST00000528295,;THY1,non_coding_transcript_exon_variant,,ENST00000584021,;THY1,downstream_gene_variant,,ENST00000532974,;THY1,downstream_gene_variant,,ENST00000533840,;	1602	61	47	SUCCESS
MYO1H	283446	.	GRCh37	12	109885134	109885134	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1451891703	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	28	0	ENST00000310903.5:c.*147C>T			ENST00000310903				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53826.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGCGTTAG	NONE	.	.	.	.	.	ENSP00000439182	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000310903	Transcript	.	.	ENSG00000174527	13879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYO1H	HGNC	S4R387_HUMAN,F5H3C6_HUMAN	.	UPI0001AFF951	SNV	MYO1H,3_prime_UTR_variant,,ENST00000431443,;MYO1H,3_prime_UTR_variant,,ENST00000310903,;KCTD10,downstream_gene_variant,,ENST00000542954,;KCTD10,downstream_gene_variant,,ENST00000228495,;KCTD10,downstream_gene_variant,,ENST00000535546,;KCTD10,downstream_gene_variant,,ENST00000540355,;KCTD10,downstream_gene_variant,,ENST00000540089,;KCTD10,downstream_gene_variant,,ENST00000540411,;KCTD10,downstream_gene_variant,,ENST00000424763,;RP11-256L11.3,non_coding_transcript_exon_variant,,ENST00000539987,;KCTD10,downstream_gene_variant,,ENST00000538161,;MYO1H,non_coding_transcript_exon_variant,,ENST00000542268,;MYO1H,intron_variant,,ENST00000543960,;KCTD10,downstream_gene_variant,,ENST00000540402,;KCTD10,downstream_gene_variant,,ENST00000537165,;KCTD10,downstream_gene_variant,,ENST00000440541,;MYO1H,downstream_gene_variant,,ENST00000457826,;KCTD10,downstream_gene_variant,,ENST00000545759,;	3322	28	23	SUCCESS
PDE4C	5143	.	GRCh37	19	18321727	18321727	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs777933309	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	4	45	0	ENST00000355502.3:c.*12C>T			ENST00000355502				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12373.1	.	MUTECT|MUSE	.	TTCACGCAGGG	NONE	byFrequency	.	.	.	.	ENSP00000347689	.	19/19	.	.	.	.	.	.	.	.	rs777933309	19/19	PASS	ENST00000355502	Transcript	.	.	ENSG00000105650	8782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE4C_HUMAN	PDE4C	HGNC	Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN	.	UPI0000127BF8	SNV	PDE4C,3_prime_UTR_variant,,ENST00000594465,;PDE4C,3_prime_UTR_variant,,ENST00000594617,;PDE4C,3_prime_UTR_variant,,ENST00000262805,;PDE4C,3_prime_UTR_variant,,ENST00000447275,;PDE4C,3_prime_UTR_variant,,ENST00000355502,;PDE4C,3_prime_UTR_variant,,ENST00000539010,;PDE4C,downstream_gene_variant,,ENST00000597297,;PDE4C,downstream_gene_variant,,ENST00000598111,;AC068499.10,intron_variant,,ENST00000594805,;AC068499.10,downstream_gene_variant,,ENST00000599416,;PDE4C,3_prime_UTR_variant,,ENST00000599188,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;	3023	45	60	SUCCESS
ZNF493	284443	.	GRCh37	19	21610089	21610089	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	57	0				ENST00000355504	NM_175910.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42536.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTAATTGT	NONE	.	.	.	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	SNV	ZNF493,3_prime_UTR_variant,,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000355504,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	4737	57	20	SUCCESS
ZNF695	57116	.	GRCh37	1	247150232	247150232	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	176	28	164	0	ENST00000339986.7:c.*37T>C			ENST00000339986	NM_020394.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44344.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTAAAGACTA	NONE	.	.	.	.	.	ENSP00000341236	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339986	Transcript	.	.	ENSG00000197472	30954	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN695_HUMAN	ZNF695	HGNC	.	.	UPI0000F734A8	SNV	ZNF695,3_prime_UTR_variant,,ENST00000339986,;ZNF695,intron_variant,,ENST00000487338,;ZNF695,intron_variant,,ENST00000498046,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000479214,;ZNF670,intron_variant,,ENST00000474541,;ZNF695,intron_variant,,ENST00000491337,;ZNF670,intron_variant,,ENST00000465049,;	1733	164	205	SUCCESS
NRIP1	8204	.	GRCh37	21	16336940	16336940	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	26	0	ENST00000318948.4:c.*97A>G			ENST00000318948	NM_003489.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13568.1	.	RADIA|MUTECT|MUSE	.	AATTATACCAT	NONE	.	.	.	.	.	ENSP00000383063	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000400202	Transcript	.	.	ENSG00000180530	8001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NRIP1_HUMAN	NRIP1	HGNC	N0GWB6_HUMAN,N0GW17_HUMAN,C9J130_HUMAN	.	UPI000004A0A8	SNV	NRIP1,3_prime_UTR_variant,,ENST00000400202,;NRIP1,3_prime_UTR_variant,,ENST00000318948,;NRIP1,3_prime_UTR_variant,,ENST00000400199,;NRIP1,downstream_gene_variant,,ENST00000411932,;AF127577.10,downstream_gene_variant,,ENST00000446301,;	4287	26	12	SUCCESS
VWA3B	200403	.	GRCh37	2	98928832	98928832	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	53	1	ENST00000477737.1:c.*20T>A			ENST00000477737	NM_144992.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42718.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTATGTTTA	NONE	.	.	.	.	.	ENSP00000417955	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000477737	Transcript	.	.	ENSG00000168658	28385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VWA3B_HUMAN	VWA3B	HGNC	Q53RD3_HUMAN	.	UPI0000E9B173	SNV	VWA3B,3_prime_UTR_variant,,ENST00000477737,;VWA3B,3_prime_UTR_variant,,ENST00000473149,;VWA3B,non_coding_transcript_exon_variant,,ENST00000490947,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;	4109	54	22	SUCCESS
GUCA1C	9626	.	GRCh37	3	108626723	108626723	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	29	0	ENST00000261047.3:c.*146A>T			ENST00000261047	NM_005459.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2954.1	.	MUTECT|MUSE	.	GTCTCTACTGG	NONE	.	.	.	.	.	ENSP00000261047	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000261047	Transcript	.	.	ENSG00000138472	4680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GUC1C_HUMAN	GUCA1C	HGNC	.	.	UPI000013D131	SNV	GUCA1C,3_prime_UTR_variant,,ENST00000261047,;GUCA1C,3_prime_UTR_variant,,ENST00000393963,;	909	29	14	SUCCESS
CLNK	116449	.	GRCh37	4	10491907	10491907	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	20	0	ENST00000226951.6:c.*184A>G			ENST00000226951	NM_052964.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47024.1	.	MUTECT|MUSE	.	ATAAATATTTT	NONE	.	.	.	.	.	ENSP00000226951	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000226951	Transcript	.	.	ENSG00000109684	17438	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLNK_HUMAN	CLNK	HGNC	D6RJB9_HUMAN	.	UPI000004A23A	SNV	CLNK,3_prime_UTR_variant,,ENST00000226951,;CLNK,3_prime_UTR_variant,,ENST00000515667,;	1711	20	10	SUCCESS
FBXW7	55294	.	GRCh37	4	153243996	153243996	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs777039703	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	30	170	0	ENST00000281708.4:c.*37G>A			ENST00000281708	NM_033632.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATCGTCTA	NONE	.	.	.	.	.	ENSP00000281708	.	12/12	.	.	.	.	.	.	.	.	rs777039703	12/12	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,3_prime_UTR_variant,,ENST00000603548,;FBXW7,3_prime_UTR_variant,,ENST00000263981,;FBXW7,3_prime_UTR_variant,,ENST00000296555,;FBXW7,3_prime_UTR_variant,,ENST00000393956,;FBXW7,3_prime_UTR_variant,,ENST00000281708,;FBXW7,3_prime_UTR_variant,,ENST00000603841,;RP11-461L13.3,upstream_gene_variant,,ENST00000603766,;RP11-461L13.5,upstream_gene_variant,,ENST00000605407,;FBXW7,non_coding_transcript_exon_variant,,ENST00000603821,;FBXW7,downstream_gene_variant,,ENST00000604316,;FBXW7,downstream_gene_variant,,ENST00000604069,;	3391	170	76	SUCCESS
MOCS2	4338	.	GRCh37	5	52394293	52394293	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1210141329	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	51	0	ENST00000396954.3:c.*139G>A			ENST00000396954	NM_004531.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3958.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCCTTTTT	NONE	.	.	.	.	.	ENSP00000380157	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000396954	Transcript	1	.	ENSG00000164172	7193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOC2B_HUMAN	MOCS2	HGNC	.	.	UPI000000DB29	SNV	MOCS2,3_prime_UTR_variant,,ENST00000450852,;MOCS2,3_prime_UTR_variant,,ENST00000510818,;MOCS2,3_prime_UTR_variant,,ENST00000361377,;MOCS2,3_prime_UTR_variant,,ENST00000508922,;MOCS2,3_prime_UTR_variant,,ENST00000396954,;MOCS2,3_prime_UTR_variant,,ENST00000582677,;ITGA2,downstream_gene_variant,,ENST00000296585,;MOCS2,downstream_gene_variant,,ENST00000584946,;MOCS2,downstream_gene_variant,,ENST00000527216,;MOCS2,non_coding_transcript_exon_variant,,ENST00000502402,;MOCS2,downstream_gene_variant,,ENST00000514553,;	1384	51	23	SUCCESS
CKMT2	1160	.	GRCh37	5	80562109	80562109	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs749435153	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	51	0	ENST00000254035.4:c.*32T>C			ENST00000254035				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4053.1	.	RADIA|VARSCANS	.	ATCTGTCTGCT	NONE	.	.	.	.	.	ENSP00000404203	.	11/11	.	.	.	.	.	.	.	.	rs749435153	11/11	PASS	ENST00000424301	Transcript	.	.	ENSG00000131730	1996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCRS_HUMAN	CKMT2	HGNC	D6R998_HUMAN,B3KVA7_HUMAN	.	UPI000013CE0D	SNV	CKMT2,3_prime_UTR_variant,,ENST00000254035,;CKMT2,3_prime_UTR_variant,,ENST00000437669,;CKMT2,3_prime_UTR_variant,,ENST00000424301,;CKMT2-AS1,intron_variant,,ENST00000501927,;CKMT2-AS1,intron_variant,,ENST00000500148,;CKMT2-AS1,intron_variant,,ENST00000512287,;CKMT2-AS1,intron_variant,,ENST00000503483,;CKMT2-AS1,intron_variant,,ENST00000502041,;CKMT2-AS1,intron_variant,,ENST00000505295,;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2,non_coding_transcript_exon_variant,,ENST00000514086,;	1530	51	28	SUCCESS
HIST1H1B	0	.	GRCh37	6	27839822	27839822	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	69	138	1				ENST00000331442	NM_005322.2	91		0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS4636.1	272	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCATCACC	NONE	.	.	Prints_domain:PR00622,Superfamily_domains:SSF47113,SMART_domains:SM00428,Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR11426	.	.	ENSP00000329554	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328488	Transcript	.	.	ENSG00000182572	4771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.001)	.	tolerated_low_confidence(0.47)	.	H31_HUMAN	HIST1H3I	HGNC	.	.	UPI00000003C7	SNV	HIST1H3I,missense_variant,p.Met91Thr,ENST00000328488,;HIST1H1B,upstream_gene_variant,,ENST00000331442,;HIST1H4L,downstream_gene_variant,,ENST00000355981,;	278	139	145	SUCCESS
ZBTB9	221504	.	GRCh37	6	33425045	33425045	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	54	173	1	ENST00000395064.2:c.*746G>T			ENST00000395064	NM_152735.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4780.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTAGTGATC	NONE	.	.	.	.	.	ENSP00000378503	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395064	Transcript	.	.	ENSG00000213588	28323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBTB9_HUMAN	ZBTB9	HGNC	.	.	UPI000006E7DE	SNV	ZBTB9,3_prime_UTR_variant,,ENST00000395064,;SYNGAP1,downstream_gene_variant,,ENST00000418600,;SYNGAP1,downstream_gene_variant,,ENST00000496374,;	2436	174	204	SUCCESS
PEG10	23089	.	GRCh37	7	94294071	94294071	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	126	0	ENST00000482108.1:c.*225A>C			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCAATTGAT	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,3_prime_UTR_variant,,ENST00000488574,;PEG10,non_coding_transcript_exon_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	1682	126	65	SUCCESS
FOXO4	4303	.	GRCh37	X	70322059	70322059	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EF-01	TCGA-DD-A1EF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	116	1	ENST00000374259.3:c.*125C>T			ENST00000374259	NM_005938.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43969.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGTCACACA	NONE	.	.	.	.	.	ENSP00000363377	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374259	Transcript	.	.	ENSG00000184481	7139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXO4_HUMAN	FOXO4	HGNC	.	.	UPI00002122FA	SNV	FOXO4,3_prime_UTR_variant,,ENST00000374259,;CXorf65,downstream_gene_variant,,ENST00000374251,;FOXO4,downstream_gene_variant,,ENST00000341558,;FOXO4,downstream_gene_variant,,ENST00000466874,;FOXO4,downstream_gene_variant,,ENST00000464598,;CXorf65,downstream_gene_variant,,ENST00000466160,;CXorf65,downstream_gene_variant,,ENST00000438526,;CXorf65,downstream_gene_variant,,ENST00000483257,;	1975	117	76	SUCCESS
C6orf203	0	.	GRCh37	6	107372489	107372489	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	49	0	ENST00000443043.1:c.*49G>A			ENST00000443043	NM_001142470.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55046.1	.	RADIA|VARSCANS	.	GAAGGGGTCAC	NONE	.	.	.	.	.	ENSP00000390153	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000443043	Transcript	.	.	ENSG00000130349	17971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	C6orf203	HGNC	J3KQ88_HUMAN	.	UPI0000D4EA45	SNV	C6orf203,3_prime_UTR_variant,,ENST00000311381,;C6orf203,3_prime_UTR_variant,,ENST00000443043,;C6orf203,3_prime_UTR_variant,,ENST00000405204,;	1462	49	30	SUCCESS
MTPN	136319	.	GRCh37	7	135612733	135612733	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs567486648	.	TCGA-DD-A1EH-01	TCGA-DD-A1EH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	91	0	ENST00000393085.3:c.*1941G>A			ENST00000393085	NM_145808.3			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTCAAGAG	NONE	by1000G	.	.	T:0	.	ENSP00000396652	T:0	1/1	.	.	.	.	.	.	.	.	rs567486648	1/1	PASS	ENST00000416501	Transcript	.	T:0.0002	ENSG00000236338	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	.	AC015987.2	Clone_based_ensembl_gene	Q9H388_HUMAN	.	UPI0000070C6D	SNV	AC015987.2,3_prime_UTR_variant,,ENST00000416501,;MTPN,3_prime_UTR_variant,,ENST00000393085,;LUZP6,upstream_gene_variant,,ENST00000589735,;MTPN,downstream_gene_variant,,ENST00000435723,;AC015987.1,intron_variant,,ENST00000419211,;	1192	91	97	SUCCESS
FGFR2	2263	.	GRCh37	10	123239050	123239050	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs3135825	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	41	0	ENST00000358487.5:c.*321A>G			ENST00000358487	NM_000141.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7620.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTATTACAA	NONE	.	321	.	.	.	ENSP00000410294	.	.	.	.	.	.	.	.	.	.	rs3135825	.	PASS	ENST00000457416	Transcript	1	.	ENSG00000066468	3689	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGFR2_HUMAN	FGFR2	HGNC	Q9UMB0_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	.	UPI000002A99A	SNV	FGFR2,3_prime_UTR_variant,,ENST00000369061,;FGFR2,3_prime_UTR_variant,,ENST00000358487,;FGFR2,3_prime_UTR_variant,,ENST00000369060,;FGFR2,3_prime_UTR_variant,,ENST00000356226,;FGFR2,3_prime_UTR_variant,,ENST00000478859,;FGFR2,3_prime_UTR_variant,,ENST00000357555,;FGFR2,downstream_gene_variant,,ENST00000336553,;FGFR2,downstream_gene_variant,,ENST00000429361,;FGFR2,downstream_gene_variant,,ENST00000351936,;FGFR2,downstream_gene_variant,,ENST00000346997,;FGFR2,downstream_gene_variant,,ENST00000360144,;FGFR2,downstream_gene_variant,,ENST00000369059,;FGFR2,downstream_gene_variant,,ENST00000369058,;FGFR2,downstream_gene_variant,,ENST00000369056,;FGFR2,downstream_gene_variant,,ENST00000457416,;FGFR2,downstream_gene_variant,,ENST00000467584,;FGFR2,3_prime_UTR_variant,,ENST00000604236,;	.	41	53	SUCCESS
C10orf54	0	.	GRCh37	10	73511007	73511007	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs371981423	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	219	21	205	0	ENST00000394957.3:c.*3C>T			ENST00000394957	NM_022153.1			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS31218.1	.	MUTECT|MUSE|VARSCANS	.	CAGCTGGGCTA	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000378409	.	7/7	.	.	.	.	.	.	.	.	rs371981423	7/7	PASS	ENST00000394957	Transcript	.	.	ENSG00000107738	30085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GI24_HUMAN	C10orf54	HGNC	.	.	UPI000004781D	SNV	C10orf54,3_prime_UTR_variant,,ENST00000394957,;C10orf54,3_prime_UTR_variant,,ENST00000470317,;CDH23,intron_variant,,ENST00000224721,;	998	205	240	SUCCESS
MGST1	4257	.	GRCh37	12	16516984	16516984	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	187	52	159	1	ENST00000010404.2:c.*9A>G			ENST00000010404	NM_145792.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8677.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAATCATACAA	NONE	.	.	.	.	.	ENSP00000379512	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396209	Transcript	.	.	ENSG00000008394	7061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MGST1_HUMAN	MGST1	HGNC	F5H7F6_HUMAN,F5H6X2_HUMAN,F5GX73_HUMAN	.	UPI0000036C19	SNV	MGST1,3_prime_UTR_variant,,ENST00000396207,;MGST1,3_prime_UTR_variant,,ENST00000396209,;MGST1,3_prime_UTR_variant,,ENST00000540056,;MGST1,3_prime_UTR_variant,,ENST00000396210,;MGST1,3_prime_UTR_variant,,ENST00000010404,;MGST1,intron_variant,,ENST00000535309,;MGST1,downstream_gene_variant,,ENST00000540126,;MGST1,downstream_gene_variant,,ENST00000536371,;MGST1,downstream_gene_variant,,ENST00000543076,;MGST1,non_coding_transcript_exon_variant,,ENST00000539708,;MGST1,intron_variant,,ENST00000542256,;MGST1,intron_variant,,ENST00000538857,;MGST1,intron_variant,,ENST00000539036,;MGST1,non_coding_transcript_exon_variant,,ENST00000535624,;	620	160	239	SUCCESS
CCDC144NL	339184	.	GRCh37	17	20767808	20767808	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs141460191	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	10	0	ENST00000327925.5:c.*920G>C			ENST00000327925	NM_001004306.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32591.1	.	RADIA|SOMATICSNIPER	.	AAGTTCTTGGG	NONE	byCluster	.	.	.	.	ENSP00000328054	.	4/4	.	.	.	.	.	.	.	.	rs141460191	4/4	PASS	ENST00000327925	Transcript	.	.	ENSG00000205212	33735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C144L_HUMAN	CCDC144NL	HGNC	.	.	UPI00001D7A84	SNV	CCDC144NL,3_prime_UTR_variant,,ENST00000327925,;RP11-344E13.3,upstream_gene_variant,,ENST00000577860,;RP11-344E13.3,upstream_gene_variant,,ENST00000582324,;RP11-344E13.3,upstream_gene_variant,,ENST00000583962,;RP11-344E13.3,upstream_gene_variant,,ENST00000439794,;RP11-344E13.3,upstream_gene_variant,,ENST00000577537,;RP11-344E13.3,upstream_gene_variant,,ENST00000417232,;CCDC144NL,intron_variant,,ENST00000539484,;CCDC144NL,downstream_gene_variant,,ENST00000539177,;	1706	10	20	SUCCESS
G6PC	0	.	GRCh37	17	41063458	41063459	+	3_prime_UTR_variant	3'UTR	INS	-	-	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	25	0	ENST00000253801.2:c.*16dup			ENST00000253801	NM_000151.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11446.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGTCTTCGGTG	NONE	.	.	.	.	.	ENSP00000253801	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000253801	Transcript	.	.	ENSG00000131482	4056	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	G6PC_HUMAN	G6PC	HGNC	.	.	UPI000013CDF5	insertion	G6PC,3_prime_UTR_variant,,ENST00000585489,;G6PC,3_prime_UTR_variant,,ENST00000253801,;G6PC,downstream_gene_variant,,ENST00000592383,;	1168-1169	25	53	SUCCESS
CD177	57126	.	GRCh37	19	43866283	43866283	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	154	15	151	0	ENST00000457794.2:c.*833A>G			ENST00000457794				0	.	.	.	.	.	G	.	nonsense_mediated_decay	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCCAACCTTC	NONE	.	.	.	.	.	ENSP00000388794	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000457794	Transcript	.	.	ENSG00000204936	30072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CD177_HUMAN	CD177	HGNC	.	.	UPI000013C4F9	SNV	CD177,3_prime_UTR_variant,,ENST00000378009,;CTC-490G23.4,intron_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000457794,;CD177,synonymous_variant,p.%3D,ENST00000607517,;	1271	151	169	SUCCESS
ZIC1	7545	.	GRCh37	3	147131462	147131462	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	10	0	ENST00000282928.4:c.*124A>G			ENST00000282928	NM_003412.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3136.1	.	MUTECT|MUSE	.	TTTTTAAAAAA	NONE	.	.	.	.	.	ENSP00000282928	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282928	Transcript	.	.	ENSG00000152977	12872	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZIC1_HUMAN	ZIC1	HGNC	.	.	UPI000013DD09	SNV	ZIC1,3_prime_UTR_variant,,ENST00000488404,;ZIC1,3_prime_UTR_variant,,ENST00000282928,;ZIC1,intron_variant,,ENST00000472523,;	2197	10	29	SUCCESS
OSGIN2	734	.	GRCh37	8	90937791	90937791	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	56	41	0	ENST00000297438.2:c.*31T>G			ENST00000297438	NM_004337.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47888.1	.	RADIA|MUTECT|MUSE	.	GACAGTTTGCC	NONE	.	.	.	.	.	ENSP00000396445	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000451899	Transcript	.	.	ENSG00000164823	1355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OSGI2_HUMAN	OSGIN2	HGNC	E5RJZ3_HUMAN	.	UPI0000E5AF0B	SNV	OSGIN2,3_prime_UTR_variant,,ENST00000451899,;OSGIN2,3_prime_UTR_variant,,ENST00000297438,;OSGIN2,downstream_gene_variant,,ENST00000520659,;	1941	41	111	SUCCESS
FAM46D	0	.	GRCh37	X	79699930	79699930	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EI-01	TCGA-DD-A1EI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	156	56	153	0	ENST00000538312.1:c.*722T>C			ENST00000538312	NM_001170574.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14446.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAACTACTAC	NONE	.	.	.	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,3_prime_UTR_variant,,ENST00000308293,;FAM46D,3_prime_UTR_variant,,ENST00000538312,;	2226	153	212	SUCCESS
GPR26	2849	.	GRCh37	10	125447679	125447679	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	113	0	ENST00000284674.1:c.*3G>T			ENST00000284674	NM_153442.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7636.1	.	RADIA|MUSE|VARSCANS	.	TGAAGGACCGC	NONE	.	.	.	.	.	ENSP00000284674	.	3/3	.	.	.	.	.	.	.	.	.	3/3	oxog	ENST00000284674	Transcript	.	.	ENSG00000154478	4481	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GPR26_HUMAN	GPR26	HGNC	.	.	UPI000006E821	SNV	GPR26,3_prime_UTR_variant,,ENST00000284674,;	1070	113	23	SUCCESS
CD5	921	.	GRCh37	11	60893315	60893315	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	122	0	ENST00000347785.3:c.*2+2T>A			ENST00000347785	NM_014207.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8000.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGTGAGCC	NONE	.	.	.	.	.	ENSP00000342681	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000347785	Transcript	.	.	ENSG00000110448	1685	.	.	HIGH	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5_HUMAN	CD5	HGNC	H6D9U9_HUMAN	.	UPI000013D472	SNV	CD5,splice_donor_variant,,ENST00000347785,;VPS37C,downstream_gene_variant,,ENST00000301765,;	.	122	34	SUCCESS
CTNS	1497	.	GRCh37	17	3563771	3563771	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	173	0	ENST00000046640.3:c.*108C>T			ENST00000046640	NM_004937.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32530.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTCAGTGT	NONE	.	.	.	.	.	ENSP00000371294	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381870	Transcript	.	.	ENSG00000040531	2518	.	.	MODIFIER	12/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTNS_HUMAN	CTNS	HGNC	I3L4A9_HUMAN,I3L1K8_HUMAN,I3L0Z6_HUMAN,C9JMM9_HUMAN	.	UPI0000366B8B	SNV	CTNS,3_prime_UTR_variant,,ENST00000046640,;CTNS,3_prime_UTR_variant,,ENST00000414524,;CTNS,intron_variant,,ENST00000441220,;CTNS,intron_variant,,ENST00000381870,;TAX1BP3,downstream_gene_variant,,ENST00000225525,;CTNS,downstream_gene_variant,,ENST00000574776,;CTNS,downstream_gene_variant,,ENST00000574218,;CTNS,downstream_gene_variant,,ENST00000576979,;RP11-235E17.6,upstream_gene_variant,,ENST00000575741,;P2RX5-TAX1BP3,downstream_gene_variant,,ENST00000550383,;RP11-48B14.1,upstream_gene_variant,,ENST00000486753,;	.	173	20	SUCCESS
LEPREL4	0	.	GRCh37	17	39958946	39958946	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	19	0	ENST00000355468.3:c.*263C>T			ENST00000355468				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11408.1	.	MUTECT|MUSE	.	TTTCAGGCGCC	NONE	.	.	.	.	.	ENSP00000347649	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000355468	Transcript	.	.	ENSG00000141696	16946	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SC65_HUMAN	LEPREL4	HGNC	K7EJ03_HUMAN,B4DVZ5_HUMAN	.	UPI00001302A2	SNV	LEPREL4,3_prime_UTR_variant,,ENST00000355468,;LEPREL4,3_prime_UTR_variant,,ENST00000393928,;LEPREL4,downstream_gene_variant,,ENST00000592026,;LEPREL4,non_coding_transcript_exon_variant,,ENST00000484247,;LEPREL4,intron_variant,,ENST00000465097,;LEPREL4,downstream_gene_variant,,ENST00000587455,;	2044	19	8	SUCCESS
ARL4D	379	.	GRCh37	17	41477789	41477789	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	22	201	0	ENST00000320033.4:c.*83A>C			ENST00000320033	NM_001661.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11463.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCAGTCAG	NONE	.	.	.	.	.	ENSP00000322628	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320033	Transcript	.	.	ENSG00000175906	656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL4D_HUMAN	ARL4D	HGNC	.	.	UPI0000140783	SNV	ARL4D,3_prime_UTR_variant,,ENST00000320033,;RNU6-1137P,upstream_gene_variant,,ENST00000517073,;	896	201	83	SUCCESS
KLHDC7B	113730	.	GRCh37	22	50988994	50988994	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	35	155	0	ENST00000395676.2:c.*614G>C			ENST00000395676	NM_138433.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14097.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGCCAGG	NONE	.	.	.	.	.	ENSP00000379034	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000395676	Transcript	.	.	ENSG00000130487	25145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLD7B_HUMAN	KLHDC7B	HGNC	.	.	UPI00005A75D4	SNV	KLHDC7B,3_prime_UTR_variant,,ENST00000395676,;SYCE3,downstream_gene_variant,,ENST00000402753,;SYCE3,downstream_gene_variant,,ENST00000406915,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;	2533	155	60	SUCCESS
RAB3C	115827	.	GRCh37	5	58147311	58147311	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs774494407	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	22	0	ENST00000282878.4:c.*133G>A			ENST00000282878	NM_138453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3976.1	.	RADIA|MUTECT|MUSE	.	CGTACGCATTC	NONE	.	.	.	.	.	ENSP00000282878	.	5/5	.	.	.	.	.	.	.	.	rs774494407	5/5	PASS	ENST00000282878	Transcript	.	.	ENSG00000152932	30269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB3C_HUMAN	RAB3C	HGNC	.	.	UPI0000133178	SNV	RAB3C,3_prime_UTR_variant,,ENST00000282878,;CTD-2176I21.2,intron_variant,,ENST00000510198,;RAB3C,non_coding_transcript_exon_variant,,ENST00000381158,;	986	22	11	SUCCESS
E2F3	1871	.	GRCh37	6	20490696	20490697	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs749610635	.	TCGA-DD-A1EJ-01	TCGA-DD-A1EJ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	93	11	18	0	ENST00000346618.3:c.*42dup			ENST00000346618	NM_001949.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4545.1	.	INDELOCATOR|VARSCANI	.	CCGATATTTTT	NONE	.	.	.	.	.	ENSP00000262904	.	7/7	.	.	.	.	.	.	.	.	rs749610635	7/7	PASS	ENST00000346618	Transcript	.	.	ENSG00000112242	3115	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	E2F3_HUMAN	E2F3	HGNC	Q24JQ3_HUMAN	.	UPI0000129AC2	insertion	E2F3,3_prime_UTR_variant,,ENST00000535432,;E2F3,3_prime_UTR_variant,,ENST00000346618,;	1499-1500	18	104	SUCCESS
HKDC1	80201	.	GRCh37	10	71026553	71026553	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	42	0	ENST00000354624.5:c.*40A>C			ENST00000354624	NM_025130.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7288.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAACAGCT	NONE	.	.	.	.	.	ENSP00000346643	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000354624	Transcript	.	.	ENSG00000156510	23302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HKDC1_HUMAN	HKDC1	HGNC	.	.	UPI00003666D2	SNV	HKDC1,3_prime_UTR_variant,,ENST00000354624,;HK1,upstream_gene_variant,,ENST00000448642,;HK1,upstream_gene_variant,,ENST00000450646,;HK1,upstream_gene_variant,,ENST00000360289,;HKDC1,downstream_gene_variant,,ENST00000395086,;RP11-227H15.5,intron_variant,,ENST00000413220,;HK1,upstream_gene_variant,,ENST00000483077,;HK1,upstream_gene_variant,,ENST00000480047,;HK1,upstream_gene_variant,,ENST00000479594,;HK1,upstream_gene_variant,,ENST00000476368,;HK1,upstream_gene_variant,,ENST00000464803,;	2927	42	45	SUCCESS
KCTD13	253980	.	GRCh37	16	29918172	29918172	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	3	63	0	ENST00000308768.5:c.*21T>C			ENST00000308768				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10661.1	.	MUTECT|MUSE	.	GAGGAAGGCAG	NONE	.	.	.	.	.	ENSP00000455785	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000568000	Transcript	.	.	ENSG00000174943	22234	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BACD1_HUMAN	KCTD13	HGNC	.	.	UPI0000073C51	SNV	KCTD13,3_prime_UTR_variant,,ENST00000568000,;KCTD13,intron_variant,,ENST00000568995,;ASPHD1,downstream_gene_variant,,ENST00000308748,;ASPHD1,downstream_gene_variant,,ENST00000483405,;ASPHD1,downstream_gene_variant,,ENST00000563177,;KCTD13,downstream_gene_variant,,ENST00000563264,;KCTD13,3_prime_UTR_variant,,ENST00000566842,;KCTD13,3_prime_UTR_variant,,ENST00000308768,;ASPHD1,intron_variant,,ENST00000414952,;ASPHD1,intron_variant,,ENST00000566693,;KCTD13,downstream_gene_variant,,ENST00000563955,;	2013	63	50	SUCCESS
EHHADH	1962	.	GRCh37	3	184910004	184910004	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs746403021	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	5	86	0	ENST00000231887.3:c.*10C>T			ENST00000231887	NM_001166415.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33901.1	.	MUTECT|MUSE	.	ATCTGGAAGAC	NONE	byFrequency	.	.	.	.	ENSP00000231887	.	7/7	.	.	.	.	.	.	.	.	rs746403021	7/7	PASS	ENST00000231887	Transcript	.	.	ENSG00000113790	3247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ECHP_HUMAN	EHHADH	HGNC	.	.	UPI000013C959	SNV	EHHADH,3_prime_UTR_variant,,ENST00000456310,;EHHADH,3_prime_UTR_variant,,ENST00000231887,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	2258	86	96	SUCCESS
ARL4A	10124	.	GRCh37	7	12729274	12729274	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-DD-A1EK-01	TCGA-DD-A1EK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	54	0				ENST00000356797				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTGAAGAA	NONE	.	.	.	.	.	ENSP00000379898	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396663	Transcript	.	.	ENSG00000122644	695	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL4A_HUMAN	ARL4A	HGNC	C9J7Q9_HUMAN	.	UPI000005273E	SNV	ARL4A,3_prime_UTR_variant,,ENST00000396663,;ARL4A,downstream_gene_variant,,ENST00000404894,;ARL4A,downstream_gene_variant,,ENST00000396664,;ARL4A,downstream_gene_variant,,ENST00000396662,;ARL4A,downstream_gene_variant,,ENST00000439721,;ARL4A,downstream_gene_variant,,ENST00000356797,;CTD-2320J21.1,downstream_gene_variant,,ENST00000604949,;	1877	54	38	SUCCESS
DDI1	414301	.	GRCh37	11	103909776	103909776	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	8	110	0	ENST00000302259.3:c.*1035G>T			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31660.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGGGTAAT	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	2469	110	84	SUCCESS
TSKU	25987	.	GRCh37	11	76508374	76508374	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1047501803	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	91	0	ENST00000333090.4:c.*652A>G			ENST00000333090	NM_015516.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8246.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCCAATGCAC	NONE	.	.	.	.	.	ENSP00000434847	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000527881	Transcript	.	.	ENSG00000182704	28850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSK_HUMAN	TSKU	HGNC	E9PN12_HUMAN,E9PLG7_HUMAN	.	UPI000006E7B7	SNV	TSKU,3_prime_UTR_variant,,ENST00000333090,;TSKU,3_prime_UTR_variant,,ENST00000527881,;TSKU,downstream_gene_variant,,ENST00000533752,;TSKU,downstream_gene_variant,,ENST00000525167,;RP11-21L23.2,upstream_gene_variant,,ENST00000566747,;	2740	91	68	SUCCESS
FZD10	11211	.	GRCh37	12	130649377	130649377	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1023484949	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	60	0	ENST00000229030.4:c.*144A>G			ENST00000229030				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9267.1	.	RADIA|VARSCANS	.	AATTCAGGATG	NONE	.	.	.	.	.	ENSP00000229030	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000229030	Transcript	.	.	ENSG00000111432	4039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FZD10_HUMAN	FZD10	HGNC	.	.	UPI000004EC92	SNV	FZD10,3_prime_UTR_variant,,ENST00000539839,;FZD10,3_prime_UTR_variant,,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	2374	60	32	SUCCESS
ATP13A1	57130	.	GRCh37	19	19756160	19756160	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	23	69	0	ENST00000357324.6:c.*71G>A			ENST00000357324	NM_020410.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32970.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCCCTCCC	NONE	.	.	.	.	.	ENSP00000349877	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000357324	Transcript	.	.	ENSG00000105726	24215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT131_HUMAN	ATP13A1	HGNC	Q8N3E5_HUMAN	.	UPI0000126647	SNV	ATP13A1,3_prime_UTR_variant,,ENST00000291503,;ATP13A1,3_prime_UTR_variant,,ENST00000357324,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000203556,;GMIP,upstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000445806,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	3713	69	53	SUCCESS
LENG8	114823	.	GRCh37	19	54972800	54972800	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs577895549	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	56	214	0	ENST00000326764.5:c.*692G>T			ENST00000326764	NM_052925.2			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS12894.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTTCTGATTTT	NONE	by1000G	.	.	A:0.001	.	ENSP00000318374	A:0	16/16	.	.	.	.	.	.	.	.	rs577895549	16/16	PASS	ENST00000326764	Transcript	.	A:0.0002	ENSG00000167615	15500	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,3_prime_UTR_variant,,ENST00000421200,;LENG8,3_prime_UTR_variant,,ENST00000326764,;LENG8,3_prime_UTR_variant,,ENST00000431846,;LENG8,downstream_gene_variant,,ENST00000376526,;LENG9,downstream_gene_variant,,ENST00000333834,;LENG8,downstream_gene_variant,,ENST00000376514,;CDC42EP5,downstream_gene_variant,,ENST00000301200,;	3574	214	168	SUCCESS
LENG8	114823	.	GRCh37	19	54972801	54972801	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	68	223	0	ENST00000326764.5:c.*693A>T			ENST00000326764	NM_052925.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12894.1	.	RADIA|SOMATICSNIPER	.	TTCTGATTTTT	NONE	.	.	.	.	.	ENSP00000318374	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000326764	Transcript	.	.	ENSG00000167615	15500	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LENG8_HUMAN	LENG8	HGNC	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN	.	UPI0000074196	SNV	LENG8,3_prime_UTR_variant,,ENST00000421200,;LENG8,3_prime_UTR_variant,,ENST00000326764,;LENG8,3_prime_UTR_variant,,ENST00000431846,;LENG8,downstream_gene_variant,,ENST00000376526,;LENG9,downstream_gene_variant,,ENST00000333834,;LENG8,downstream_gene_variant,,ENST00000376514,;CDC42EP5,downstream_gene_variant,,ENST00000301200,;	3575	223	178	SUCCESS
FAM46C	0	.	GRCh37	1	118170271	118170271	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	138	0	ENST00000369448.3:c.*3605G>T			ENST00000369448	NM_017709.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS896.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTAGATTCA	NONE	.	.	.	.	.	ENSP00000358458	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369448	Transcript	.	.	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	5028	138	135	SUCCESS
LCE1B	353132	.	GRCh37	1	152785465	152785465	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	203	80	262	0	ENST00000360090.3:c.*186T>C			ENST00000360090	NM_178349.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1027.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACCTCAGTT	NONE	.	.	.	.	.	ENSP00000353203	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360090	Transcript	.	.	ENSG00000196734	16611	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE1B_HUMAN	LCE1B	HGNC	.	.	UPI000014099C	SNV	LCE1B,3_prime_UTR_variant,,ENST00000360090,;	1019	262	283	SUCCESS
MGAT3	4248	.	GRCh37	22	39885281	39885281	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	48	0	ENST00000341184.6:c.*327A>G			ENST00000341184	NM_002409.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13994.2	.	RADIA|VARSCANS	.	GGGGAAGAGAG	NONE	.	.	.	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,3_prime_UTR_variant,,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	2144	48	38	SUCCESS
FAM49A	0	.	GRCh37	2	16734201	16734201	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs201324134	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	32	166	0	ENST00000381323.3:c.*3C>T			ENST00000381323	NM_030797.3			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS1688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGAGCTCTA	NONE	byFrequency|byCluster|by1000G	.	.	A:0.003	.	ENSP00000370724	A:0	12/12	.	.	.	.	.	.	.	.	rs201324134	12/12	PASS	ENST00000381323	Transcript	.	A:0.0006	ENSG00000197872	25373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	FA49A_HUMAN	FAM49A	HGNC	Q53QW2_HUMAN,C9JPE5_HUMAN,C9IYV6_HUMAN,B3KRB1_HUMAN	.	UPI0000037BBB	SNV	FAM49A,3_prime_UTR_variant,,ENST00000381323,;FAM49A,downstream_gene_variant,,ENST00000355549,;FAM49A,downstream_gene_variant,,ENST00000406434,;	1196	166	51	SUCCESS
PNO1	56902	.	GRCh37	2	68384698	68384698	+	upstream_gene_variant	5'Flank	SNP	C	C	G	rs373901699	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	15	54	0				ENST00000263657	NM_020143.2	297		0	T:0.0068	T:0.0068	.	T:0	.	G	.	protein_coding	YES	CCDS1884.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGCCCTGG	NONE	byFrequency|byCluster|by1000G	6	.	T:0	T:0	ENSP00000295121	T:0	.	.	.	.	.	.	.	.	.	rs373901699	.	PASS	ENST00000295121	Transcript	.	T:0.0018	ENSG00000243667	25176	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	WDR92_HUMAN	WDR92	HGNC	Q8ND98_HUMAN,Q86YQ0_HUMAN	.	UPI000006F50D	SNV	WDR92,upstream_gene_variant,,ENST00000409164,;WDR92,upstream_gene_variant,,ENST00000406245,;PNO1,upstream_gene_variant,,ENST00000263657,;WDR92,upstream_gene_variant,,ENST00000295121,;WDR92,upstream_gene_variant,,ENST00000492039,;RP11-474G23.1,synonymous_variant,p.%3D,ENST00000406334,;WDR92,upstream_gene_variant,,ENST00000468984,;PNO1,upstream_gene_variant,,ENST00000430742,;	.	54	56	SUCCESS
HTR3E	285242	.	GRCh37	3	183824643	183824643	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	32	0	ENST00000415389.2:c.*162C>A			ENST00000415389	NM_001256613.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58871.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAATCCCAGA	NONE	.	162	.	.	.	ENSP00000406050	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000440596	Transcript	.	.	ENSG00000186038	24005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT3E_HUMAN	HTR3E	HGNC	.	.	UPI000198CB5D	SNV	HTR3E,3_prime_UTR_variant,,ENST00000335304,;HTR3E,3_prime_UTR_variant,,ENST00000415389,;HTR3E,downstream_gene_variant,,ENST00000425359,;HTR3E,downstream_gene_variant,,ENST00000440596,;HTR3E,downstream_gene_variant,,ENST00000431041,;HTR3E,downstream_gene_variant,,ENST00000436361,;HTR3E-AS1,upstream_gene_variant,,ENST00000431427,;	.	32	18	SUCCESS
ZNF732	654254	.	GRCh37	4	264792	264792	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	4	30	0	ENST00000419098.1:c.*96A>G			ENST00000419098	NM_001137608.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46990.1	.	RADIA|MUTECT|VARSCANS	.	CCACATTCTTC	NONE	.	.	.	.	.	ENSP00000415774	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000419098	Transcript	.	.	ENSG00000186777	37138	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN732_HUMAN	ZNF732	HGNC	.	.	UPI00017A8291	SNV	ZNF732,3_prime_UTR_variant,,ENST00000419098,;RP11-478C6.5,upstream_gene_variant,,ENST00000507882,;RP11-478C6.6,upstream_gene_variant,,ENST00000511111,;	1865	30	36	SUCCESS
DPCR1	0	.	GRCh37	6	30920977	30920977	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs537375797	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	13	0	ENST00000462446.1:c.*83C>T			ENST00000462446				0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS4692.2	.	MUTECT|MUSE	.	ATTTCCGGGAC	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000417182	T:0	3/3	.	.	.	.	.	.	.	.	rs537375797	3/3	PASS	ENST00000462446	Transcript	.	T:0.0002	ENSG00000168631	21666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	.	DPCR1	HGNC	E9PEI6_HUMAN	.	UPI0000596C17	SNV	DPCR1,3_prime_UTR_variant,,ENST00000304311,;DPCR1,3_prime_UTR_variant,,ENST00000462446,;HCG21,non_coding_transcript_exon_variant,,ENST00000419481,;	4293	13	8	SUCCESS
FUT9	10690	.	GRCh37	6	96662250	96662250	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A1EL-01	TCGA-DD-A1EL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	58	305	0	ENST00000302103.5:c.*10139G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGGCAATA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	11545	305	175	SUCCESS
MYF6	4618	.	GRCh37	12	81102861	81102861	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	12	0	ENST00000228641.3:c.*122G>A			ENST00000228641	NM_002469.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9019.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGAAAGG	NONE	.	.	.	.	.	ENSP00000228641	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000228641	Transcript	.	.	ENSG00000111046	7566	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYF6_HUMAN	MYF6	HGNC	.	.	UPI0000001050	SNV	MYF6,3_prime_UTR_variant,,ENST00000228641,;	1073	12	19	SUCCESS
PIK3C3	5289	.	GRCh37	18	39661287	39661287	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	13	0	ENST00000262039.4:c.*186T>G			ENST00000262039	NM_002647.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11920.1	.	MUTECT|MUSE	.	TATAGTCTTGA	NONE	.	.	.	.	.	ENSP00000262039	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000262039	Transcript	.	.	ENSG00000078142	8974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PK3C3_HUMAN	PIK3C3	HGNC	M0R2C5_HUMAN,M0R0W7_HUMAN,M0R0U1_HUMAN,M0R0G8_HUMAN,M0QZG0_HUMAN	.	UPI00000708CE	SNV	PIK3C3,3_prime_UTR_variant,,ENST00000588156,;PIK3C3,3_prime_UTR_variant,,ENST00000593098,;PIK3C3,3_prime_UTR_variant,,ENST00000587328,;PIK3C3,3_prime_UTR_variant,,ENST00000262039,;PIK3C3,3_prime_UTR_variant,,ENST00000398870,;PIK3C3,downstream_gene_variant,,ENST00000588631,;	2936	13	15	SUCCESS
GRIK5	2901	.	GRCh37	19	42569955	42569955	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1308246038	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	60	1				ENST00000262895	NM_002088.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12595.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGCGGCC	NONE	.	33	.	.	.	ENSP00000262895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262895	Transcript	.	.	ENSG00000105737	4583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK5_HUMAN	GRIK5	HGNC	.	.	UPI000013D353	SNV	GRIK5,5_prime_UTR_variant,,ENST00000301218,;GRIK5,5_prime_UTR_variant,,ENST00000593562,;ZNF574,upstream_gene_variant,,ENST00000222339,;ZNF574,upstream_gene_variant,,ENST00000600245,;GRIK5,upstream_gene_variant,,ENST00000262895,;GRIK5,5_prime_UTR_variant,,ENST00000594528,;	.	61	49	SUCCESS
NFYC	4802	.	GRCh37	1	41236517	41236517	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	42	0	ENST00000308733.5:c.*17G>C			ENST00000308733				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGGCCAA	NONE	.	.	.	.	.	ENSP00000396620	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000425457	Transcript	.	.	ENSG00000066136	7806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFYC_HUMAN	NFYC	HGNC	Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN	.	UPI0000D4DA2D	SNV	NFYC,3_prime_UTR_variant,,ENST00000427410,;NFYC,3_prime_UTR_variant,,ENST00000456393,;NFYC,3_prime_UTR_variant,,ENST00000308733,;NFYC,3_prime_UTR_variant,,ENST00000440226,;NFYC,3_prime_UTR_variant,,ENST00000372652,;NFYC,3_prime_UTR_variant,,ENST00000372651,;NFYC,3_prime_UTR_variant,,ENST00000425457,;NFYC,3_prime_UTR_variant,,ENST00000447388,;NFYC,3_prime_UTR_variant,,ENST00000372654,;NFYC,3_prime_UTR_variant,,ENST00000372653,;NFYC,intron_variant,,ENST00000414185,;NFYC,downstream_gene_variant,,ENST00000372669,;NFYC,downstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000488635,;NFYC,non_coding_transcript_exon_variant,,ENST00000496608,;NFYC,downstream_gene_variant,,ENST00000525349,;NFYC,downstream_gene_variant,,ENST00000424419,;	1242	42	34	SUCCESS
C2orf88	84281	.	GRCh37	2	191065623	191065623	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	55	0	ENST00000340623.4:c.*749T>C			ENST00000340623	NM_001042519.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42792.1	.	RADIA|MUTECT|MUSE	.	TCCAATAAATC	NONE	.	.	.	.	.	ENSP00000345107	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340623	Transcript	.	.	ENSG00000187699	28191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMAKA_HUMAN	C2orf88	HGNC	H7BZ15_HUMAN,C9JS57_HUMAN	.	UPI000013D122	SNV	C2orf88,3_prime_UTR_variant,,ENST00000340623,;HIBCH,intron_variant,,ENST00000399855,;HIBCH,downstream_gene_variant,,ENST00000359678,;C2orf88,downstream_gene_variant,,ENST00000409870,;HIBCH,downstream_gene_variant,,ENST00000392332,;C2orf88,downstream_gene_variant,,ENST00000443551,;C2orf88,downstream_gene_variant,,ENST00000450357,;C2orf88,downstream_gene_variant,,ENST00000409545,;HIBCH,downstream_gene_variant,,ENST00000410045,;C2orf88,downstream_gene_variant,,ENST00000396974,;HIBCH,downstream_gene_variant,,ENST00000486981,;C2orf88,downstream_gene_variant,,ENST00000490033,;	1448	55	34	SUCCESS
CNGB3	54714	.	GRCh37	8	87587928	87587928	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A39V-01	TCGA-DD-A39V-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	31	0	ENST00000320005.5:c.*104G>C			ENST00000320005	NM_019098.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6244.1	.	MUTECT|MUSE	.	CGTTTCTCAAG	NONE	.	.	.	.	.	ENSP00000316605	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000320005	Transcript	1	.	ENSG00000170289	2153	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNGB3_HUMAN	CNGB3	HGNC	.	.	UPI000014076F	SNV	CNGB3,3_prime_UTR_variant,,ENST00000320005,;CNGB3,intron_variant,,ENST00000517327,;	2582	31	35	SUCCESS
BCL2L10	10017	.	GRCh37	15	52402020	52402020	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs767006509	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	44	0	ENST00000260442.3:c.*25T>C			ENST00000260442	NM_020396.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10148.1	.	RADIA|MUSE	.	CAGGTAGAAGC	NONE	byFrequency	.	.	.	.	ENSP00000260442	.	2/2	.	.	.	.	.	.	.	.	rs767006509	2/2	PASS	ENST00000260442	Transcript	.	.	ENSG00000137875	993	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B2L10_HUMAN	BCL2L10	HGNC	.	.	UPI000013D0DA	SNV	BCL2L10,missense_variant,p.Leu237Pro,ENST00000561198,;BCL2L10,3_prime_UTR_variant,,ENST00000260442,;	689	44	32	SUCCESS
YWHAE	7531	.	GRCh37	17	1248724	1248724	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	5	95	0	ENST00000264335.8:c.*17A>G			ENST00000264335	NM_006761.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11001.1	.	MUTECT|MUSE	.	GTTTCTCTTGT	NONE	.	.	.	.	.	ENSP00000264335	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000264335	Transcript	.	.	ENSG00000108953	12851	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	1433E_HUMAN	YWHAE	HGNC	B7ZA86_HUMAN	.	UPI0000021A46	SNV	YWHAE,3_prime_UTR_variant,,ENST00000264335,;YWHAE,3_prime_UTR_variant,,ENST00000571732,;YWHAE,3_prime_UTR_variant,,ENST00000575977,;YWHAE,3_prime_UTR_variant,,ENST00000573026,;YWHAE,3_prime_UTR_variant,,ENST00000496706,;YWHAE,3_prime_UTR_variant,,ENST00000466227,;YWHAE,3_prime_UTR_variant,,ENST00000573196,;	1053	95	79	SUCCESS
ZNF780A	284323	.	GRCh37	19	40580307	40580307	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-DD-A39W-01	TCGA-DD-A39W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	50	0				ENST00000340963				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46079.1	.	MUTECT|MUSE	.	TGAACCACAAA	NONE	.	.	.	.	.	ENSP00000400997	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000455521	Transcript	.	.	ENSG00000197782	27603	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	Z780A_HUMAN	ZNF780A	HGNC	.	.	UPI0001881B53	SNV	ZNF780A,3_prime_UTR_variant,,ENST00000450241,;ZNF780A,3_prime_UTR_variant,,ENST00000595687,;ZNF780A,3_prime_UTR_variant,,ENST00000455521,;ZNF780A,intron_variant,,ENST00000414720,;ZNF780A,downstream_gene_variant,,ENST00000594395,;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000340963,;ZNF780A,downstream_gene_variant,,ENST00000599972,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;ZNF780A,downstream_gene_variant,,ENST00000599368,;	2193	50	36	SUCCESS
SART3	9733	.	GRCh37	12	108917104	108917104	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	14	0	ENST00000228284.3:c.*130T>G			ENST00000228284	NM_014706.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9117.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTAAAGCCGA	NONE	.	.	.	.	.	ENSP00000228284	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000228284	Transcript	.	.	ENSG00000075856	16860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SART3_HUMAN	SART3	HGNC	H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN	.	UPI000006D72B	SNV	SART3,3_prime_UTR_variant,,ENST00000228284,;FICD,intron_variant,,ENST00000549641,;FICD,downstream_gene_variant,,ENST00000552695,;FICD,downstream_gene_variant,,ENST00000361549,;SART3,downstream_gene_variant,,ENST00000547397,;SART3,downstream_gene_variant,,ENST00000431469,;SART3,downstream_gene_variant,,ENST00000546815,;FICD,upstream_gene_variant,,ENST00000546448,;SART3,3_prime_UTR_variant,,ENST00000546728,;	3257	14	18	SUCCESS
MFSD2A	84879	.	GRCh37	1	40435379	40435379	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	37	0	ENST00000372809.5:c.*139T>A			ENST00000372809	NM_001136493.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44118.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGCTGTGCT	NONE	.	.	.	.	.	ENSP00000361895	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000372809	Transcript	.	.	ENSG00000168389	25897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFS2A_HUMAN	MFSD2A	HGNC	Q71RE4_HUMAN,E7EPI8_HUMAN	.	UPI0000072562	SNV	MFSD2A,3_prime_UTR_variant,,ENST00000372811,;MFSD2A,3_prime_UTR_variant,,ENST00000372809,;MFSD2A,downstream_gene_variant,,ENST00000420632,;MFSD2A,downstream_gene_variant,,ENST00000434861,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000480630,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000483824,;MFSD2A,downstream_gene_variant,,ENST00000469745,;MFSD2A,downstream_gene_variant,,ENST00000459917,;MFSD2A,downstream_gene_variant,,ENST00000481612,;MFSD2A,downstream_gene_variant,,ENST00000491515,;	1914	37	27	SUCCESS
NCAPG2	54892	.	GRCh37	7	158424348	158424348	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	129	0	ENST00000356309.3:c.*10C>T			ENST00000356309	NM_017760.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43686.1	.	MUTECT|MUSE	.	GAGATGTTGGC	NONE	.	.	.	.	.	ENSP00000386569	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000409423	Transcript	.	.	ENSG00000146918	21904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNDG2_HUMAN	NCAPG2	HGNC	.	.	UPI000000DA46	SNV	NCAPG2,3_prime_UTR_variant,,ENST00000275830,;NCAPG2,3_prime_UTR_variant,,ENST00000409423,;NCAPG2,3_prime_UTR_variant,,ENST00000441982,;NCAPG2,3_prime_UTR_variant,,ENST00000356309,;NCAPG2,3_prime_UTR_variant,,ENST00000541468,;NCAPG2,3_prime_UTR_variant,,ENST00000432615,;NCAPG2,downstream_gene_variant,,ENST00000467785,;	3615	129	91	SUCCESS
PTGES2	80142	.	GRCh37	9	130883284	130883284	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A39X-01	TCGA-DD-A39X-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	25	0	ENST00000338961.6:c.*140G>T			ENST00000338961	NM_025072.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6891.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCGAGAG	NONE	.	.	.	.	.	ENSP00000345341	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000338961	Transcript	.	.	ENSG00000148334	17822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGES2_HUMAN	PTGES2	HGNC	A6NHH0_HUMAN	.	UPI000003F04A	SNV	PTGES2,3_prime_UTR_variant,,ENST00000338961,;PTGES2,3_prime_UTR_variant,,ENST00000277462,;PTGES2,downstream_gene_variant,,ENST00000449878,;RP11-395P17.3,upstream_gene_variant,,ENST00000418747,;RP11-395P17.3,upstream_gene_variant,,ENST00000536815,;PTGES2,downstream_gene_variant,,ENST00000497109,;PTGES2,downstream_gene_variant,,ENST00000487063,;PTGES2,downstream_gene_variant,,ENST00000476748,;PTGES2,downstream_gene_variant,,ENST00000485237,;PTGES2,downstream_gene_variant,,ENST00000483625,;PTGES2,downstream_gene_variant,,ENST00000474124,;PTGES2,non_coding_transcript_exon_variant,,ENST00000493205,;PTGES2,non_coding_transcript_exon_variant,,ENST00000476655,;PTGES2,non_coding_transcript_exon_variant,,ENST00000496594,;PTGES2,downstream_gene_variant,,ENST00000485510,;	2019	25	19	SUCCESS
SOCS4	122809	.	GRCh37	14	55511177	55511177	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	7	98	0	ENST00000339298.2:c.*95G>A			ENST00000339298				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9722.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGTGGTG	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	SNV	SOCS4,3_prime_UTR_variant,,ENST00000339298,;SOCS4,3_prime_UTR_variant,,ENST00000395472,;SOCS4,3_prime_UTR_variant,,ENST00000555846,;	1750	98	60	SUCCESS
SPTBN5	51332	.	GRCh37	15	42140732	42140732	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	135	85	409	0	ENST00000320955.6:c.*82C>T			ENST00000320955	NM_016642.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS61599.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTGCCTGT	NONE	.	.	.	.	.	ENSP00000317790	.	68/68	.	.	.	.	.	.	.	.	.	68/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,3_prime_UTR_variant,,ENST00000320955,;PLA2G4B,downstream_gene_variant,,ENST00000458483,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000342159,;PLA2G4B,downstream_gene_variant,,ENST00000542534,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000382448,;PLA2G4B,downstream_gene_variant,,ENST00000452633,;PLA2G4B,downstream_gene_variant,,ENST00000569354,;RNA5SP393,downstream_gene_variant,,ENST00000363423,;SPTBN5,non_coding_transcript_exon_variant,,ENST00000563899,;PLA2G4B,downstream_gene_variant,,ENST00000461382,;PLA2G4B,downstream_gene_variant,,ENST00000566076,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000490848,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000491746,;PLA2G4B,downstream_gene_variant,,ENST00000483748,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000487292,;	11335	409	220	SUCCESS
ENKD1	84080	.	GRCh37	16	67697029	67697029	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	16	97	0	ENST00000243878.4:c.*35C>G			ENST00000243878	NM_032140.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10844.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCAGCATGG	NONE	.	.	.	.	.	ENSP00000243878	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000243878	Transcript	.	.	ENSG00000124074	25246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENKD1_HUMAN	ENKD1	HGNC	.	.	UPI00000727D7	SNV	ENKD1,3_prime_UTR_variant,,ENST00000602644,;ENKD1,3_prime_UTR_variant,,ENST00000243878,;PARD6A,downstream_gene_variant,,ENST00000458121,;PARD6A,downstream_gene_variant,,ENST00000602551,;ACD,upstream_gene_variant,,ENST00000219251,;PARD6A,downstream_gene_variant,,ENST00000219255,;C16orf86,upstream_gene_variant,,ENST00000403458,;ACD,upstream_gene_variant,,ENST00000602850,;ACD,upstream_gene_variant,,ENST00000393919,;ACD,upstream_gene_variant,,ENST00000602320,;ACD,upstream_gene_variant,,ENST00000602382,;C16orf86,upstream_gene_variant,,ENST00000602365,;ENKD1,downstream_gene_variant,,ENST00000602409,;C16orf86,upstream_gene_variant,,ENST00000602974,;ENKD1,non_coding_transcript_exon_variant,,ENST00000602942,;PARD6A,downstream_gene_variant,,ENST00000602727,;ACD,upstream_gene_variant,,ENST00000602860,;C16orf86,upstream_gene_variant,,ENST00000459925,;ACD,upstream_gene_variant,,ENST00000602656,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,upstream_gene_variant,,ENST00000602821,;ACD,upstream_gene_variant,,ENST00000602423,;ACD,upstream_gene_variant,,ENST00000602945,;ACD,upstream_gene_variant,,ENST00000602780,;C16orf86,upstream_gene_variant,,ENST00000445068,;ACD,upstream_gene_variant,,ENST00000602519,;ACD,upstream_gene_variant,,ENST00000602622,;C16orf86,upstream_gene_variant,,ENST00000602987,;ENKD1,downstream_gene_variant,,ENST00000602531,;ENKD1,downstream_gene_variant,,ENST00000602642,;	1398	97	26	SUCCESS
SFT2D2	375035	.	GRCh37	1	168216136	168216136	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	.	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	132	52	242	0	ENST00000271375.4:c.*4358A>C			ENST00000271375	NM_199344.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1271.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGTATTTCT	NONE	.	.	.	.	.	ENSP00000271375	.	8/8	.	.	.	.	.	.	.	.	COSM1601194,COSM1601195	8/8	PASS	ENST00000271375	Transcript	.	.	ENSG00000213064	25140	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1,1	.	.	.	.	.	1,1	SFT2B_HUMAN	SFT2D2	HGNC	.	.	UPI0000072549	SNV	SFT2D2,3_prime_UTR_variant,,ENST00000271375,;SFT2D2,downstream_gene_variant,,ENST00000367825,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000358576,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000604892,;	4913	242	185	SUCCESS
CPNE1	8904	.	GRCh37	20	34214131	34214131	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs770038665	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	97	0	ENST00000352393.4:c.*32C>G			ENST00000352393				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46595.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGATTGA	NONE	.	.	.	.	.	ENSP00000317257	.	16/16	.	.	.	.	.	.	.	.	rs770038665	16/16	PASS	ENST00000317677	Transcript	.	.	ENSG00000214078	2314	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CPNE1	HGNC	Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN,B0QZ18_HUMAN	.	UPI0000D4B36B	SNV	CPNE1,missense_variant,p.Ile189Met,ENST00000415920,;CPNE1,3_prime_UTR_variant,,ENST00000317677,;CPNE1,3_prime_UTR_variant,,ENST00000397442,;CPNE1,3_prime_UTR_variant,,ENST00000317619,;CPNE1,3_prime_UTR_variant,,ENST00000352393,;CPNE1,3_prime_UTR_variant,,ENST00000397443,;CPNE1,3_prime_UTR_variant,,ENST00000397445,;CPNE1,3_prime_UTR_variant,,ENST00000397446,;CPNE1,downstream_gene_variant,,ENST00000412056,;CPNE1,downstream_gene_variant,,ENST00000430570,;CPNE1,downstream_gene_variant,,ENST00000437340,;CPNE1,downstream_gene_variant,,ENST00000414664,;CPNE1,non_coding_transcript_exon_variant,,ENST00000498814,;CPNE1,non_coding_transcript_exon_variant,,ENST00000462352,;CPNE1,downstream_gene_variant,,ENST00000498056,;CPNE1,3_prime_UTR_variant,,ENST00000401607,;CPNE1,non_coding_transcript_exon_variant,,ENST00000473373,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483495,;CPNE1,downstream_gene_variant,,ENST00000486021,;	1796	97	58	SUCCESS
C2CD2	25966	.	GRCh37	21	43309200	43309200	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs377599432	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	14	162	0	ENST00000380486.3:c.*33G>C			ENST00000380486	NM_015500.1			0	T:0	.	.	.	.	G	.	protein_coding	YES	CCDS42933.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGCACGTCTT	NONE	byCluster	.	.	.	T:0.0001	ENSP00000369853	.	14/14	.	.	.	.	.	.	.	.	rs377599432	14/14	PASS	ENST00000380486	Transcript	.	.	ENSG00000157617	1266	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CU025_HUMAN	C2CD2	HGNC	.	.	UPI0000206BBE	SNV	C2CD2,3_prime_UTR_variant,,ENST00000449165,;C2CD2,3_prime_UTR_variant,,ENST00000329623,;C2CD2,3_prime_UTR_variant,,ENST00000380486,;C2CD2,non_coding_transcript_exon_variant,,ENST00000482186,;C2CD2,non_coding_transcript_exon_variant,,ENST00000482084,;	2366	162	89	SUCCESS
PTPN23	25930	.	GRCh37	3	47454800	47454800	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	17	0	ENST00000265562.4:c.*125C>A			ENST00000265562	NM_015466.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2754.1	.	MUTECT|MUSE	.	CCTGCCTGGCC	NONE	.	.	.	.	.	ENSP00000265562	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000265562	Transcript	.	.	ENSG00000076201	14406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTN23_HUMAN	PTPN23	HGNC	B4DST5_HUMAN	.	UPI000006EBC4	SNV	PTPN23,3_prime_UTR_variant,,ENST00000431726,;PTPN23,3_prime_UTR_variant,,ENST00000265562,;SCAP,downstream_gene_variant,,ENST00000545718,;SCAP,downstream_gene_variant,,ENST00000441517,;SCAP,downstream_gene_variant,,ENST00000265565,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;SCAP,downstream_gene_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000495653,;	5113	17	10	SUCCESS
RPL29	6159	.	GRCh37	3	52023203	52023203	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	15	0				ENST00000294189	NM_000992.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2844.1	.	MUTECT|MUSE	.	TGAAGTACTAA	NONE	.	41	.	.	.	ENSP00000384296	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404366	Transcript	.	.	ENSG00000243989	177	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACY1_HUMAN	ACY1	HGNC	.	.	UPI00001254AD	SNV	ACY1,3_prime_UTR_variant,,ENST00000476351,;ACY1,3_prime_UTR_variant,,ENST00000494103,;ACY1,3_prime_UTR_variant,,ENST00000476854,;RPL29,downstream_gene_variant,,ENST00000479017,;ACY1,downstream_gene_variant,,ENST00000404366,;RPL29,downstream_gene_variant,,ENST00000492277,;RPL29,downstream_gene_variant,,ENST00000466397,;ACY1,downstream_gene_variant,,ENST00000469863,;RPL29,downstream_gene_variant,,ENST00000294189,;ACY1,downstream_gene_variant,,ENST00000458031,;RPL29,downstream_gene_variant,,ENST00000495383,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463937,;RPL29,downstream_gene_variant,,ENST00000475248,;ACY1,downstream_gene_variant,,ENST00000464587,;ACY1,downstream_gene_variant,,ENST00000468068,;ACY1,downstream_gene_variant,,ENST00000490244,;ACY1,3_prime_UTR_variant,,ENST00000491318,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463721,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000497128,;ACY1,downstream_gene_variant,,ENST00000496679,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000486081,;ACY1,downstream_gene_variant,,ENST00000465121,;RPL29,downstream_gene_variant,,ENST00000480306,;	.	15	9	SUCCESS
KIAA1456	0	.	GRCh37	8	12885299	12885299	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A39Z-01	TCGA-DD-A39Z-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	28	88	0	ENST00000524591.2:c.*5746C>T			ENST00000524591	NM_020844.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47808.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AACCACGGAAG	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	7600	88	35	SUCCESS
P2RY6	5031	.	GRCh37	11	73008715	73008715	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	54	125	0	ENST00000349767.2:c.*165C>G			ENST00000349767	NM_176796.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8220.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCCTTCTC	NONE	.	.	.	.	.	ENSP00000377215	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000393590	Transcript	.	.	ENSG00000171631	8543	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY6_HUMAN	P2RY6	HGNC	F5GYF3_HUMAN,F5GX90_HUMAN	.	UPI000005041C	SNV	P2RY6,3_prime_UTR_variant,,ENST00000538328,;P2RY6,3_prime_UTR_variant,,ENST00000540342,;P2RY6,3_prime_UTR_variant,,ENST00000349767,;P2RY6,3_prime_UTR_variant,,ENST00000540124,;P2RY6,3_prime_UTR_variant,,ENST00000542092,;P2RY6,3_prime_UTR_variant,,ENST00000393592,;P2RY6,3_prime_UTR_variant,,ENST00000393591,;P2RY6,3_prime_UTR_variant,,ENST00000393590,;P2RY6,downstream_gene_variant,,ENST00000544437,;P2RY6,downstream_gene_variant,,ENST00000536225,;P2RY6,downstream_gene_variant,,ENST00000535931,;	1451	125	115	SUCCESS
SH3BP2	6452	.	GRCh37	4	2835649	2835649	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	23	0	ENST00000356331.5:c.*88T>G			ENST00000356331	NM_003023.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54716.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGGGTGAGCA	NONE	.	.	.	.	.	ENSP00000422168	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000503393	Transcript	1	.	ENSG00000087266	10825	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	SH3BP2	HGNC	D6RER9_HUMAN,D6RC64_HUMAN,D6RBL6_HUMAN,D6RAB4_HUMAN,D6R995_HUMAN,D6R919_HUMAN	.	UPI00019638E3	SNV	SH3BP2,3_prime_UTR_variant,,ENST00000503393,;SH3BP2,3_prime_UTR_variant,,ENST00000442312,;SH3BP2,3_prime_UTR_variant,,ENST00000435136,;SH3BP2,3_prime_UTR_variant,,ENST00000356331,;SH3BP2,3_prime_UTR_variant,,ENST00000452765,;SH3BP2,3_prime_UTR_variant,,ENST00000511747,;SH3BP2,downstream_gene_variant,,ENST00000515183,;SH3BP2,3_prime_UTR_variant,,ENST00000513069,;SH3BP2,3_prime_UTR_variant,,ENST00000515737,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000510204,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000515802,;SH3BP2,downstream_gene_variant,,ENST00000504450,;SH3BP2,downstream_gene_variant,,ENST00000505941,;	1984	23	26	SUCCESS
FAM114A2	10827	.	GRCh37	5	153372507	153372507	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs745823152	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	41	90	0	ENST00000351797.4:c.*29G>T			ENST00000351797	NM_018691.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4323.1	.	RADIA|MUTECT|MUSE	.	CGTCACAAGTC	NONE	byFrequency	.	.	.	.	ENSP00000341597	.	14/14	.	.	.	.	.	.	.	.	rs745823152	14/14	PASS	ENST00000351797	Transcript	.	.	ENSG00000055147	1333	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F1142_HUMAN	FAM114A2	HGNC	E5RK42_HUMAN,E5RHP2_HUMAN,E5RHI8_HUMAN,E5RH43_HUMAN,E5RGF9_HUMAN,E5RFK2_HUMAN	.	UPI000013D5DA	SNV	FAM114A2,3_prime_UTR_variant,,ENST00000520667,;FAM114A2,3_prime_UTR_variant,,ENST00000351797,;FAM114A2,3_prime_UTR_variant,,ENST00000522858,;FAM114A2,downstream_gene_variant,,ENST00000520313,;FAM114A2,non_coding_transcript_exon_variant,,ENST00000518946,;FAM114A2,non_coding_transcript_exon_variant,,ENST00000518914,;	1624	90	92	SUCCESS
TRIM41	90933	.	GRCh37	5	180662177	180662177	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	41	0	ENST00000315073.5:c.*402G>A			ENST00000315073	NM_033549.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4466.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGGGCAAG	NONE	.	.	.	.	.	ENSP00000320869	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,3_prime_UTR_variant,,ENST00000315073,;TRIM41,intron_variant,,ENST00000351937,;GNB2L1,downstream_gene_variant,,ENST00000511900,;GNB2L1,downstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000504128,;GNB2L1,downstream_gene_variant,,ENST00000456394,;GNB2L1,downstream_gene_variant,,ENST00000503081,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,downstream_gene_variant,,ENST00000504726,;GNB2L1,downstream_gene_variant,,ENST00000514455,;GNB2L1,downstream_gene_variant,,ENST00000512968,;GNB2L1,downstream_gene_variant,,ENST00000502844,;GNB2L1,downstream_gene_variant,,ENST00000502905,;TRIM41,downstream_gene_variant,,ENST00000515499,;GNB2L1,downstream_gene_variant,,ENST00000507756,;GNB2L1,downstream_gene_variant,,ENST00000376817,;GNB2L1,downstream_gene_variant,,ENST00000509535,;GNB2L1,downstream_gene_variant,,ENST00000511566,;GNB2L1,downstream_gene_variant,,ENST00000507000,;GNB2L1,downstream_gene_variant,,ENST00000510199,;GNB2L1,downstream_gene_variant,,ENST00000512805,;CTC-338M12.7,upstream_gene_variant,,ENST00000499096,;TRIM41,downstream_gene_variant,,ENST00000510072,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;TRIM41,intron_variant,,ENST00000503114,;TRIM41,intron_variant,,ENST00000514219,;GNB2L1,downstream_gene_variant,,ENST00000514183,;GNB2L1,downstream_gene_variant,,ENST00000507273,;GNB2L1,downstream_gene_variant,,ENST00000508682,;GNB2L1,downstream_gene_variant,,ENST00000503494,;GNB2L1,downstream_gene_variant,,ENST00000504325,;GNB2L1,downstream_gene_variant,,ENST00000502548,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000508044,;GNB2L1,downstream_gene_variant,,ENST00000506312,;GNB2L1,downstream_gene_variant,,ENST00000513060,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000502890,;GNB2L1,downstream_gene_variant,,ENST00000511473,;	3005	41	23	SUCCESS
LTV1	84946	.	GRCh37	6	144184760	144184762	+	3_prime_UTR_variant	3'UTR	DEL	TAC	TAC	AG	novel	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	TAC	TAC	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	50	0	ENST00000367576.5:c.*96_*98delinsAG			ENST00000367576	NM_032860.3			0	.	.	.	.	.	AG	.	protein_coding	YES	CCDS5201.1	.	PINDEL|SOMATICSNIPER*|VARSCANI*|INDELOCATOR*|MUSE*|VARSCANS*	.	CATTTTTACTGGCA	NONE	.	.	.	.	.	ENSP00000356548	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000367576	Transcript	.	.	ENSG00000135521	21173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	6	.	.	.	.	.	.	.	LTV1_HUMAN	LTV1	HGNC	.	.	UPI0000039EA5	substitution	LTV1,3_prime_UTR_variant,,ENST00000367576,;ZC2HC1B,upstream_gene_variant,,ENST00000539295,;ZC2HC1B,upstream_gene_variant,,ENST00000237275,;RP3-468K18.6,upstream_gene_variant,,ENST00000604280,;	1658-1660	50	49	SUCCESS
NSUN5P2	260294	.	GRCh37	7	72416805	72416805	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs782528933	.	TCGA-DD-A3A2-01	TCGA-DD-A3A2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	218	78	228	0				ENST00000388955				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59059.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCCTTCCC	NONE	byFrequency	.	.	.	.	ENSP00000378687	.	.	.	.	.	.	.	.	.	.	rs782528933	.	PASS	ENST00000395270	Transcript	.	.	ENSG00000196313	19702	.	.	MODIFIER	15/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P121A_HUMAN	POM121	HGNC	A8MY32_HUMAN	.	UPI000013DA6B	SNV	POM121,3_prime_UTR_variant,,ENST00000257622,;POM121,3_prime_UTR_variant,,ENST00000358357,;POM121,intron_variant,,ENST00000446813,;POM121,intron_variant,,ENST00000395270,;POM121,downstream_gene_variant,,ENST00000434423,;NSUN5P2,downstream_gene_variant,,ENST00000388955,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;NSUN5P2,downstream_gene_variant,,ENST00000444583,;NSUN5P2,downstream_gene_variant,,ENST00000485741,;NSUN5P2,downstream_gene_variant,,ENST00000457352,;	.	228	296	SUCCESS
NPAP1	23742	.	GRCh37	15	24926686	24926686	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	24	75	0	ENST00000329468.2:c.*2201C>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCATGAT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6146	75	68	SUCCESS
ZNF550	162972	.	GRCh37	19	58058283	58058283	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	37	85	0	ENST00000325134.5:c.*60C>T			ENST00000325134				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATGAATGA	NONE	.	.	.	.	.	ENSP00000422344	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000506609	Transcript	.	.	ENSG00000251369	28643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN550_HUMAN	ZNF550	HGNC	.	.	UPI000006EACB	SNV	ZNF550,3_prime_UTR_variant,,ENST00000506609,;ZNF550,3_prime_UTR_variant,,ENST00000344222,;ZNF550,3_prime_UTR_variant,,ENST00000457177,;ZNF550,3_prime_UTR_variant,,ENST00000325134,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,3_prime_UTR_variant,,ENST00000447310,;ZNF550,3_prime_UTR_variant,,ENST00000376230,;	1209	85	68	SUCCESS
FGR	2268	.	GRCh37	1	27939217	27939217	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	8	0	ENST00000374003.3:c.*208G>A			ENST00000374003	NM_001042729.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS305.1	.	MUTECT|MUSE	.	TGGGGCCAGAG	NONE	.	.	.	.	.	ENSP00000363117	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000374005	Transcript	.	.	ENSG00000000938	3697	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FGR_HUMAN	FGR	HGNC	Q7KZ45_HUMAN,Q5TGY6_HUMAN,P78483_HUMAN,P78453_HUMAN	.	UPI000012A72F	SNV	FGR,3_prime_UTR_variant,,ENST00000545953,;FGR,3_prime_UTR_variant,,ENST00000374004,;FGR,3_prime_UTR_variant,,ENST00000399173,;FGR,3_prime_UTR_variant,,ENST00000374003,;FGR,3_prime_UTR_variant,,ENST00000374005,;FGR,downstream_gene_variant,,ENST00000457296,;	2087	8	8	SUCCESS
CLPTM1L	81037	.	GRCh37	5	1318380	1318380	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1397428354	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	25	0	ENST00000320895.5:c.*104A>G			ENST00000320895	NM_030782.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3862.1	.	MUTECT|MUSE	.	GGATTTTGGCA	NONE	.	.	.	.	.	ENSP00000313854	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000320895	Transcript	.	.	ENSG00000049656	24308	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLP1L_HUMAN	CLPTM1L	HGNC	B3KY18_HUMAN	.	UPI00000707DF	SNV	CLPTM1L,3_prime_UTR_variant,,ENST00000320927,;CLPTM1L,3_prime_UTR_variant,,ENST00000320895,;CLPTM1L,3_prime_UTR_variant,,ENST00000507807,;CLPTM1L,downstream_gene_variant,,ENST00000507195,;CLPTM1L,downstream_gene_variant,,ENST00000506641,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503534,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503042,;CLPTM1L,downstream_gene_variant,,ENST00000505605,;CLPTM1L,downstream_gene_variant,,ENST00000505914,;CLPTM1L,downstream_gene_variant,,ENST00000515719,;CLPTM1L,downstream_gene_variant,,ENST00000503151,;CLPTM1L,downstream_gene_variant,,ENST00000512451,;CLPTM1L,downstream_gene_variant,,ENST00000511268,;	1979	25	30	SUCCESS
BHLHE22	27319	.	GRCh37	8	65494997	65494997	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1373605376	.	TCGA-DD-A3A3-01	TCGA-DD-A3A3-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	336	37	143	0	ENST00000321870.1:c.*504T>C			ENST00000321870	NM_152414.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6179.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATAAATTTTGA	NONE	.	.	.	.	.	ENSP00000318799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321870	Transcript	.	.	ENSG00000180828	11963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BHE22_HUMAN	BHLHE22	HGNC	.	.	UPI0000070A3C	SNV	BHLHE22,3_prime_UTR_variant,,ENST00000321870,;RP11-21C4.1,upstream_gene_variant,,ENST00000517909,;	2184	143	373	SUCCESS
ARID4A	5926	.	GRCh37	14	58838777	58838777	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	48	0	ENST00000355431.3:c.*70C>T			ENST00000355431	NM_002892.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9732.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAACCACAGA	NONE	.	.	.	.	.	ENSP00000347602	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000355431	Transcript	.	.	ENSG00000032219	9885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI4A_HUMAN	ARID4A	HGNC	H7C485_HUMAN,C9JIF4_HUMAN	.	UPI000013FD01	SNV	ARID4A,3_prime_UTR_variant,,ENST00000355431,;ARID4A,3_prime_UTR_variant,,ENST00000395168,;ARID4A,3_prime_UTR_variant,,ENST00000431317,;ARID4A,3_prime_UTR_variant,,ENST00000348476,;RP11-517O13.3,intron_variant,,ENST00000556390,;ARID4A,downstream_gene_variant,,ENST00000466065,;	4217	48	48	SUCCESS
UCHL5	51377	.	GRCh37	1	192985265	192985265	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	22	0	ENST00000367455.4:c.*216T>C			ENST00000367455	NM_015984.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1378.1	.	MUSE|VARSCANS	.	GGGAAAGCATT	NONE	.	.	.	.	.	ENSP00000356425	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000367455	Transcript	.	.	ENSG00000116750	19678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UCHL5_HUMAN	UCHL5	HGNC	.	.	UPI000013CF2A	SNV	UCHL5,3_prime_UTR_variant,,ENST00000449480,;UCHL5,3_prime_UTR_variant,,ENST00000420791,;UCHL5,3_prime_UTR_variant,,ENST00000367455,;UCHL5,3_prime_UTR_variant,,ENST00000367450,;UCHL5,3_prime_UTR_variant,,ENST00000367454,;UCHL5,downstream_gene_variant,,ENST00000367451,;UCHL5,downstream_gene_variant,,ENST00000416915,;UCHL5,downstream_gene_variant,,ENST00000367449,;UCHL5,downstream_gene_variant,,ENST00000367452,;UCHL5,downstream_gene_variant,,ENST00000367448,;UCHL5,downstream_gene_variant,,ENST00000530098,;UCHL5,downstream_gene_variant,,ENST00000443327,;	1442	22	25	SUCCESS
EMILIN3	90187	.	GRCh37	20	39989853	39989853	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	45	0	ENST00000332312.3:c.*55C>G			ENST00000332312	NM_052846.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13316.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTGGGGTG	NONE	.	.	.	.	.	ENSP00000332806	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000332312	Transcript	.	.	ENSG00000183798	16123	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMIL3_HUMAN	EMILIN3	HGNC	Q495S5_HUMAN	.	UPI00001D82E8	SNV	EMILIN3,3_prime_UTR_variant,,ENST00000332312,;LPIN3,downstream_gene_variant,,ENST00000373257,;LPIN3,downstream_gene_variant,,ENST00000445975,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	2549	45	31	SUCCESS
WDR4	10785	.	GRCh37	21	44270039	44270039	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	13	0	ENST00000330317.2:c.*8+112G>A			ENST00000330317	NM_033661.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13691.1	.	MUTECT|MUSE	.	CCATCCTCTGA	NONE	.	.	.	.	.	ENSP00000381266	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000398208	Transcript	.	.	ENSG00000160193	12756	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR4_HUMAN	WDR4	HGNC	.	.	UPI00000372F0	SNV	WDR4,3_prime_UTR_variant,,ENST00000398208,;WDR4,intron_variant,,ENST00000330317,;WDR4,non_coding_transcript_exon_variant,,ENST00000492742,;WDR4,non_coding_transcript_exon_variant,,ENST00000476326,;WDR4,downstream_gene_variant,,ENST00000479429,;	1419	13	18	SUCCESS
FZD7	8324	.	GRCh37	2	202902701	202902701	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A4-01	TCGA-DD-A3A4-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	199	9	158	0	ENST00000286201.1:c.*1606C>T			ENST00000286201	NM_003507.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2351.1	.	MUTECT|MUSE	.	CTTAGCAGAGA	NONE	.	.	.	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,3_prime_UTR_variant,,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	3392	158	208	SUCCESS
WBP11	51729	.	GRCh37	12	14939918	14939918	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	31	0	ENST00000261167.2:c.*81A>G			ENST00000261167	NM_016312.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8666.1	.	MUTECT|MUSE	.	GCAGCTCTTTC	NONE	.	.	.	.	.	ENSP00000261167	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000261167	Transcript	.	.	ENSG00000084463	16461	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WBP11_HUMAN	WBP11	HGNC	F5GXS9_HUMAN,B4DMD3_HUMAN	.	UPI0000035FC2	SNV	WBP11,3_prime_UTR_variant,,ENST00000261167,;WBP11,downstream_gene_variant,,ENST00000535638,;	2241	31	24	SUCCESS
SLCO1B3	28234	.	GRCh37	12	21069193	21069193	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	44	121	1	ENST00000261196.2:c.*12T>C			ENST00000261196				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGATTCATT	NONE	.	.	.	.	.	ENSP00000370956	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000381545	Transcript	.	.	ENSG00000111700	10961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO1B3_HUMAN	SLCO1B3	HGNC	F5H8K0_HUMAN	.	UPI000013544A	SNV	SLCO1B3,3_prime_UTR_variant,,ENST00000381545,;SLCO1B3,3_prime_UTR_variant,,ENST00000261196,;SLCO1B7,intron_variant,,ENST00000554957,;SLCO1B3,intron_variant,,ENST00000553473,;LST3,intron_variant,,ENST00000540229,;LST3,intron_variant,,ENST00000381541,;	2340	122	104	SUCCESS
GLIPR1	11010	.	GRCh37	12	75893782	75893782	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	43	0	ENST00000266659.3:c.*1027del			ENST00000266659	NM_006851.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9011.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCAAGTAAAACA	NONE	.	.	.	.	.	ENSP00000266659	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000266659	Transcript	.	.	ENSG00000139278	17001	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLIP1_HUMAN	GLIPR1	HGNC	.	.	UPI000012B60F	deletion	GLIPR1,3_prime_UTR_variant,,ENST00000266659,;KRR1,intron_variant,,ENST00000229214,;KRR1,intron_variant,,ENST00000438169,;GLIPR1,downstream_gene_variant,,ENST00000550491,;GLIPR1,downstream_gene_variant,,ENST00000456650,;KRR1,intron_variant,,ENST00000551070,;GLIPR1,downstream_gene_variant,,ENST00000536703,;	2026	43	50	SUCCESS
PCDH9	5101	.	GRCh37	13	66878683	66878683	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	41	0	ENST00000377865.2:c.*104C>T			ENST00000377865				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9444.1	.	MUTECT|MUSE	.	TCCCTGCTAGA	NONE	.	.	.	.	.	ENSP00000442186	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000544246	Transcript	.	.	ENSG00000184226	8661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDH9_HUMAN	PCDH9	HGNC	.	.	UPI00001FCE90	SNV	PCDH9,3_prime_UTR_variant,,ENST00000544246,;PCDH9,3_prime_UTR_variant,,ENST00000377865,;PCDH9,3_prime_UTR_variant,,ENST00000456367,;PCDH9,downstream_gene_variant,,ENST00000328454,;PCDH9-AS1,intron_variant,,ENST00000430861,;	4510	41	32	SUCCESS
LILRB3	11025	.	GRCh37	19	54726884	54726884	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs1347368991	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	162	36	174	0				ENST00000245620				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46175.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGGATGA	NONE	.	34	.	.	.	ENSP00000245620	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000245620	Transcript	.	.	ENSG00000204577	6607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIRB3_HUMAN	LILRB3	HGNC	C9JWL8_HUMAN	.	UPI0000E04BFA	SNV	LILRB3,5_prime_UTR_variant,,ENST00000424807,;LILRB3,5_prime_UTR_variant,,ENST00000445347,;LILRB3,5_prime_UTR_variant,,ENST00000391750,;LILRB3,5_prime_UTR_variant,,ENST00000346401,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,intron_variant,,ENST00000440558,;LILRA6,intron_variant,,ENST00000419410,;LILRB3,upstream_gene_variant,,ENST00000245620,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,non_coding_transcript_exon_variant,,ENST00000468668,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000414379,;	.	175	199	SUCCESS
PSMB2	5690	.	GRCh37	1	36068746	36068746	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	25	0	ENST00000373237.3:c.*122A>G			ENST00000373237	NM_002794.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS394.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATATCCA	NONE	.	.	.	.	.	ENSP00000362334	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373237	Transcript	.	.	ENSG00000126067	9539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB2_HUMAN	PSMB2	HGNC	.	.	UPI0000111E4C	SNV	PSMB2,3_prime_UTR_variant,,ENST00000373237,;	1140	25	27	SUCCESS
GJB1	2705	.	GRCh37	X	70444424	70444424	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1057520778	.	TCGA-DD-A3A5-01	TCGA-DD-A3A5-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	104	0	ENST00000361726.6:c.*15C>T			ENST00000361726	NM_000166.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGGCAACCT	NONE	.	.	.	.	.	ENSP00000363134	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374022	Transcript	.	.	ENSG00000169562	4283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB1_HUMAN	GJB1	HGNC	C9JWU8_HUMAN	.	UPI0000001C7E	SNV	GJB1,3_prime_UTR_variant,,ENST00000361726,;GJB1,3_prime_UTR_variant,,ENST00000374029,;GJB1,3_prime_UTR_variant,,ENST00000374022,;GJB1,downstream_gene_variant,,ENST00000447581,;	962	104	82	SUCCESS
DYRK2	8445	.	GRCh37	12	68053460	68053460	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	119	140	0	ENST00000344096.3:c.*967G>A			ENST00000344096	NM_006482.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8978.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGGATTT	NONE	.	.	.	.	.	ENSP00000342105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000344096	Transcript	.	.	ENSG00000127334	3093	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYRK2_HUMAN	DYRK2	HGNC	G8JLB4_HUMAN,F5GXG1_HUMAN	.	UPI000006E92B	SNV	DYRK2,3_prime_UTR_variant,,ENST00000344096,;DYRK2,downstream_gene_variant,,ENST00000393555,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,intron_variant,,ENST00000425371,;	3186	141	167	SUCCESS
SMPD4P2	441654	.	GRCh37	13	19748160	19748160	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	89	0				ENST00000440167		399		0	.	.	.	.	.	C	Y/C	protein_coding	YES	CCDS9284.1	1196	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCATACATG	NONE	.	.	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Gene3D:1.10.287.600,Superfamily_domains:SSF55307,Prints_domain:PR01161,Prints_domain:PR01162	.	.	ENSP00000382982	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000400113	Transcript	.	.	ENSG00000198033	12408	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.933)	.	deleterious_low_confidence(0.02)	.	TBA3C_HUMAN	TUBA3C	HGNC	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	.	UPI0000027DB1	SNV	TUBA3C,missense_variant,p.Tyr399Cys,ENST00000400113,;SMPD4P2,upstream_gene_variant,,ENST00000440167,;	1301	90	101	SUCCESS
RAB11A	8766	.	GRCh37	15	66180243	66180243	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	11	46	0	ENST00000261890.2:c.*65A>G			ENST00000261890	NM_004663.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10212.1	.	MUTECT|MUSE	.	AATATATTTGT	NONE	.	.	.	.	.	ENSP00000261890	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261890	Transcript	.	.	ENSG00000103769	9760	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RB11A_HUMAN	RAB11A	HGNC	H3BN38_HUMAN	.	UPI0000029ED1	SNV	RAB11A,3_prime_UTR_variant,,ENST00000261890,;RAB11A,3_prime_UTR_variant,,ENST00000564910,;RAB11A,3_prime_UTR_variant,,ENST00000569896,;RAB11A,downstream_gene_variant,,ENST00000567671,;RAB11A,downstream_gene_variant,,ENST00000435304,;RAB11A,downstream_gene_variant,,ENST00000565075,;RAB11A,downstream_gene_variant,,ENST00000566233,;RAB11A,non_coding_transcript_exon_variant,,ENST00000569304,;	844	46	25	SUCCESS
PFAS	5198	.	GRCh37	17	8172620	8172620	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs114510292	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	3	69	0	ENST00000314666.6:c.*38A>G			ENST00000314666	NM_012393.2			0	G:0.0166	G:0.0265	.	G:0	.	G	.	protein_coding	YES	CCDS11136.1	.	RADIA|VARSCANS	.	TTTTCACCTAA	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0.0002	ENSP00000313490	G:0	28/28	.	.	.	.	.	.	.	.	rs114510292	28/28	common_in_exac	ENST00000314666	Transcript	.	G:0.0070	ENSG00000178921	8863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	PUR4_HUMAN	PFAS	HGNC	Q9BR56_HUMAN,Q6P4B4_HUMAN,J3QSH6_HUMAN,J3QL39_HUMAN,J3KTL4_HUMAN,F5GWT9_HUMAN	.	UPI00001A95E5	SNV	PFAS,3_prime_UTR_variant,,ENST00000314666,;PFAS,3_prime_UTR_variant,,ENST00000546020,;PFAS,3_prime_UTR_variant,,ENST00000545834,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,downstream_gene_variant,,ENST00000578979,;PFAS,downstream_gene_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,;	4188	69	35	SUCCESS
CNDP2	55748	.	GRCh37	18	72187348	72187348	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	57	0	ENST00000324262.4:c.*45C>T			ENST00000324262	NM_018235.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12006.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCTCACC	NONE	.	.	.	.	.	ENSP00000325548	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000324262	Transcript	.	.	ENSG00000133313	24437	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNDP2_HUMAN	CNDP2	HGNC	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN	.	UPI00000463FE	SNV	CNDP2,3_prime_UTR_variant,,ENST00000579847,;CNDP2,3_prime_UTR_variant,,ENST00000324262,;CNDP2,3_prime_UTR_variant,,ENST00000324301,;CNDP2,intron_variant,,ENST00000579624,;CNDP2,downstream_gene_variant,,ENST00000583695,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,downstream_gene_variant,,ENST00000577409,;CNDP2,downstream_gene_variant,,ENST00000581600,;	1789	57	24	SUCCESS
NLRP4	147945	.	GRCh37	19	56393064	56393064	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	18	0	ENST00000301295.6:c.*111G>A			ENST00000301295	NM_134444.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12936.1	.	MUTECT|MUSE	.	GTTGTGAGATT	NONE	.	.	.	.	.	ENSP00000301295	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301295	Transcript	.	.	ENSG00000160505	22943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,3_prime_UTR_variant,,ENST00000589437,;NLRP4,3_prime_UTR_variant,,ENST00000301295,;NLRP4,3_prime_UTR_variant,,ENST00000346986,;NLRP4,3_prime_UTR_variant,,ENST00000587891,;	3518	18	13	SUCCESS
CTBS	1486	.	GRCh37	1	85016134	85016147	+	3_prime_UTR_variant	3'UTR	DEL	TCACTGAGGTACAG	TCACTGAGGTACAG	GCA	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	TCACTGAGGTACAG	TCACTGAGGTACAG	.	.	.	.	.	.	.	.	.	.	.	.	.	117	51	250	0	ENST00000370630.5:c.*4535_*4548delinsTGC			ENST00000370630	NM_004388.2			0	.	.	.	.	.	GCA	.	protein_coding	YES	CCDS698.1	.	INDELOCATOR*|MUSE*|MUTECT*|VARSCANI*|PINDEL	.	TCCAGATCACTGAGGTACAGCATGC	NONE	.	.	.	.	.	ENSP00000359664	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370630	Transcript	.	.	ENSG00000117151	2496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIAC_HUMAN	CTBS	HGNC	.	.	UPI00001293CB	substitution	CTBS,3_prime_UTR_variant,,ENST00000370630,;SPATA1,non_coding_transcript_exon_variant,,ENST00000490879,;SPATA1,intron_variant,,ENST00000460286,;CTBS,downstream_gene_variant,,ENST00000477677,;SPATA1,downstream_gene_variant,,ENST00000431031,;CTBS,downstream_gene_variant,,ENST00000465118,;CTBS,downstream_gene_variant,,ENST00000370625,;SPATA1,non_coding_transcript_exon_variant,,ENST00000554297,;SPATA1,non_coding_transcript_exon_variant,,ENST00000263717,;	5742-5755	250	168	SUCCESS
SEC14L4	284904	.	GRCh37	22	30886049	30886049	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	23	77	0	ENST00000255858.7:c.*45C>T			ENST00000255858	NM_174977.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13878.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGTGGGTGT	NONE	.	.	.	.	.	ENSP00000255858	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000255858	Transcript	.	.	ENSG00000133488	20627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S14L4_HUMAN	SEC14L4	HGNC	Q6ICM2_HUMAN,B2RMR2_HUMAN	.	UPI0000135435	SNV	SEC14L4,3_prime_UTR_variant,,ENST00000392772,;SEC14L4,3_prime_UTR_variant,,ENST00000540456,;SEC14L4,3_prime_UTR_variant,,ENST00000255858,;SEC14L4,intron_variant,,ENST00000381982,;RP4-539M6.14,intron_variant,,ENST00000610156,;RP4-539M6.14,upstream_gene_variant,,ENST00000442126,;SEC14L4,3_prime_UTR_variant,,ENST00000320982,;SEC14L4,3_prime_UTR_variant,,ENST00000321205,;	1350	77	67	SUCCESS
SIAH2	6478	.	GRCh37	3	150459918	150459918	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs770825503	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	28	217	0	ENST00000312960.3:c.*10C>T			ENST00000312960	NM_005067.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3152.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTACGAAAGT	NONE	byFrequency	.	.	.	.	ENSP00000322457	.	2/2	.	.	.	.	.	.	.	.	rs770825503	2/2	PASS	ENST00000312960	Transcript	.	.	ENSG00000181788	10858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAH2_HUMAN	SIAH2	HGNC	C9J9D7_HUMAN	.	UPI0000071280	SNV	SIAH2,3_prime_UTR_variant,,ENST00000312960,;SIAH2,downstream_gene_variant,,ENST00000482706,;	1513	217	142	SUCCESS
EMCN	51705	.	GRCh37	4	101331438	101331438	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs374744629	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	93	0	ENST00000296420.4:c.*39+1G>A			ENST00000296420	NM_001159694.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3655.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTACGTAAT	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000296420	.	.	.	.	.	.	.	.	.	.	rs374744629	.	PASS	ENST00000296420	Transcript	.	.	ENSG00000164035	16041	.	.	HIGH	11/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUCEN_HUMAN	EMCN	HGNC	Q53H40_HUMAN,Q4W5J1_HUMAN	.	UPI000003777D	SNV	EMCN,splice_donor_variant,,ENST00000511970,;EMCN,splice_donor_variant,,ENST00000305864,;EMCN,splice_donor_variant,,ENST00000296420,;EMCN,splice_donor_variant,,ENST00000506300,;	.	93	53	SUCCESS
FAT4	79633	.	GRCh37	4	126412996	126412996	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs939990268	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	22	63	0	ENST00000394329.3:c.*73G>T			ENST00000394329	NM_024582.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3732.3	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTAGGTTGGG	NONE	.	.	.	.	.	ENSP00000377862	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000394329	Transcript	1	.	ENSG00000196159	23109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FAT4_HUMAN	FAT4	HGNC	B3KRB4_HUMAN	.	UPI000155D6E3	SNV	FAT4,3_prime_UTR_variant,,ENST00000394329,;FAT4,downstream_gene_variant,,ENST00000335110,;	15032	63	48	SUCCESS
BAAT	570	.	GRCh37	9	104123181	104123181	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A7-01	TCGA-DD-A3A7-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	16	0	ENST00000259407.2:c.*1529T>C			ENST00000259407	NM_001127610.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTAGCTGT	NONE	.	.	.	.	.	ENSP00000259407	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000259407	Transcript	.	.	ENSG00000136881	932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAAT_HUMAN	BAAT	HGNC	.	.	UPI00000715D7	SNV	BAAT,3_prime_UTR_variant,,ENST00000259407,;BAAT,downstream_gene_variant,,ENST00000395051,;RP11-35N6.6,non_coding_transcript_exon_variant,,ENST00000447628,;TRMT112P4,upstream_gene_variant,,ENST00000429016,;	2895	16	15	SUCCESS
SLC18A2	6571	.	GRCh37	10	119036783	119036783	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	59	0	ENST00000298472.5:c.*6G>C			ENST00000298472	NM_003054.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7599.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGATCCT	NONE	.	.	.	.	.	ENSP00000298472	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000298472	Transcript	1	.	ENSG00000165646	10935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VMAT2_HUMAN	SLC18A2	HGNC	.	.	UPI00001389DE	SNV	SLC18A2,3_prime_UTR_variant,,ENST00000298472,;PDZD8,downstream_gene_variant,,ENST00000334464,;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	1694	59	62	SUCCESS
MAML2	84441	.	GRCh37	11	95712053	95712053	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	21	53	0	ENST00000524717.1:c.*59A>G			ENST00000524717	NM_032427.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44714.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGTTTCTG	NONE	.	.	.	.	.	ENSP00000434552	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	SNV	MAML2,3_prime_UTR_variant,,ENST00000524717,;	4815	53	67	SUCCESS
MUC19	283463	.	GRCh37	12	40963562	40963562	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	47	67	0	ENST00000454784.4:c.*7660A>C			ENST00000454784				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGAGTTCA	NONE	.	.	.	.	.	ENSP00000476404	.	83/84	.	.	.	.	.	.	.	.	.	83/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000427572,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,3_prime_UTR_variant,,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000546043,;	19286	67	105	SUCCESS
LAIR2	3904	.	GRCh37	19	55014011	55014015	+	5_prime_UTR_variant	5'UTR	DEL	AGAAC	AGAAC	-	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	AGAAC	AGAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	28	0				ENST00000301202	NM_002288.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12897.1	.	INDELOCATOR|VARSCANI	.	GTGGAAAGAACAGAAC	NONE	.	.	.	.	.	ENSP00000301202	.	1/5	.	.	.	.	.	.	.	.	.	1/5	PASS	ENST00000301202	Transcript	.	.	ENSG00000167618	6478	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAIR2_HUMAN	LAIR2	HGNC	.	.	UPI000013E6E5	deletion	LAIR2,5_prime_UTR_variant,,ENST00000301202,;LAIR2,intron_variant,,ENST00000412608,;LAIR2,upstream_gene_variant,,ENST00000351841,;	?-3	28	36	SUCCESS
FBXO28	23219	.	GRCh37	1	224345489	224345489	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	6	40	0	ENST00000366862.5:c.*41G>T			ENST00000366862	NM_015176.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1539.1	.	MUTECT|MUSE	.	GCTTAGTAGCT	NONE	.	.	.	.	.	ENSP00000355827	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000366862	Transcript	.	.	ENSG00000143756	29046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX28_HUMAN	FBXO28	HGNC	B4E0H5_HUMAN	.	UPI000006F1C1	SNV	FBXO28,3_prime_UTR_variant,,ENST00000424254,;FBXO28,3_prime_UTR_variant,,ENST00000366862,;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	1191	40	92	SUCCESS
CST9L	128821	.	GRCh37	20	23545454	23545454	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	19	0	ENST00000376979.3:c.*131A>G			ENST00000376979	NM_080610.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13157.1	.	RADIA|MUTECT|MUSE	.	AGATCTCAAAC	NONE	.	.	.	.	.	ENSP00000366178	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,3_prime_UTR_variant,,ENST00000376979,;	874	19	13	SUCCESS
CCT8L2	150160	.	GRCh37	22	17071759	17071759	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	43	132	0	ENST00000359963.3:c.*8C>G			ENST00000359963	NM_014406.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13738.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGAGGGTAT	NONE	.	.	.	.	.	ENSP00000353048	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359963	Transcript	.	.	ENSG00000198445	15553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCPQM_HUMAN	CCT8L2	HGNC	.	.	UPI000006CF87	SNV	CCT8L2,3_prime_UTR_variant,,ENST00000359963,;FABP5P11,downstream_gene_variant,,ENST00000430910,;	1942	132	137	SUCCESS
PDXP	57026	.	GRCh37	22	38062901	38062901	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	21	34	0	ENST00000215904.6:c.*1023C>G			ENST00000215904	NM_020315.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13953.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACCTGTCC	NONE	.	.	.	.	.	ENSP00000215904	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000215904	Transcript	.	.	ENSG00000241360	30259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPP_HUMAN	PDXP	HGNC	B1AHD3_HUMAN	.	UPI000006D362	SNV	SH3BP1,3_prime_UTR_variant,,ENST00000599616,;PDXP,3_prime_UTR_variant,,ENST00000403251,;PDXP,3_prime_UTR_variant,,ENST00000215904,;RN7SL385P,downstream_gene_variant,,ENST00000468873,;SH3BP1,3_prime_UTR_variant,,ENST00000451997,;	1970	34	60	SUCCESS
ZBED4	9889	.	GRCh37	22	50283351	50283351	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	163	14	185	0	ENST00000216268.5:c.*2525C>G			ENST00000216268	NM_014838.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33677.1	.	MUTECT|MUSE|VARSCANS	.	CTCTGCCCTCC	NONE	.	.	.	.	.	ENSP00000216268	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000216268	Transcript	.	.	ENSG00000100426	20721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBED4_HUMAN	ZBED4	HGNC	.	.	UPI000013C6DB	SNV	ZBED4,3_prime_UTR_variant,,ENST00000216268,;	6518	185	177	SUCCESS
SPHKAP	80309	.	GRCh37	2	228846247	228846247	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	18	0	ENST00000392056.3:c.*186C>A			ENST00000392056	NM_001142644.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46537.1	.	MUTECT|MUSE	.	AATTTGGACAG	NONE	.	.	.	.	.	ENSP00000375909	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000392056	Transcript	.	.	ENSG00000153820	30619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPKAP_HUMAN	SPHKAP	HGNC	.	.	UPI0000411D7E	SNV	SPHKAP,3_prime_UTR_variant,,ENST00000344657,;SPHKAP,3_prime_UTR_variant,,ENST00000392056,;	5336	18	19	SUCCESS
CAMK2D	817	.	GRCh37	4	114375575	114375575	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	38	0	ENST00000342666.5:c.*126A>G			ENST00000342666				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3703.1	.	MUTECT|MUSE	.	TGCACTCAGAA	NONE	.	.	.	.	.	ENSP00000339740	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000342666	Transcript	.	.	ENSG00000145349	1462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCC2D_HUMAN	CAMK2D	HGNC	.	.	UPI000013FFDA	SNV	CAMK2D,3_prime_UTR_variant,,ENST00000296402,;CAMK2D,3_prime_UTR_variant,,ENST00000342666,;CAMK2D,3_prime_UTR_variant,,ENST00000418639,;CAMK2D,3_prime_UTR_variant,,ENST00000511664,;CAMK2D,3_prime_UTR_variant,,ENST00000394524,;CAMK2D,3_prime_UTR_variant,,ENST00000394526,;CAMK2D,3_prime_UTR_variant,,ENST00000513132,;CAMK2D,3_prime_UTR_variant,,ENST00000429180,;CAMK2D,3_prime_UTR_variant,,ENST00000454265,;CAMK2D,downstream_gene_variant,,ENST00000508738,;CAMK2D,downstream_gene_variant,,ENST00000514328,;CAMK2D,downstream_gene_variant,,ENST00000515496,;CAMK2D,downstream_gene_variant,,ENST00000505990,;CAMK2D,downstream_gene_variant,,ENST00000379773,;CAMK2D,downstream_gene_variant,,ENST00000394522,;	1626	38	39	SUCCESS
DCAF4L1	285429	.	GRCh37	4	41988242	41988242	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	65	115	0	ENST00000333141.5:c.*3242A>G			ENST00000333141	NM_001029955.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33978.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATAGATAAGG	NONE	.	.	.	.	.	ENSP00000327796	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333141	Transcript	.	.	ENSG00000182308	27723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC4L1_HUMAN	DCAF4L1	HGNC	.	.	UPI0000160C25	SNV	DCAF4L1,3_prime_UTR_variant,,ENST00000333141,;SLC30A9,upstream_gene_variant,,ENST00000264451,;RP11-814H16.2,downstream_gene_variant,,ENST00000608029,;SLC30A9,upstream_gene_variant,,ENST00000510460,;SLC30A9,upstream_gene_variant,,ENST00000513699,;	4530	115	140	SUCCESS
PCDHB9	56127	.	GRCh37	5	140565224	140565224	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs1443564137	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	32	33	0				ENST00000316105				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4251.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCTCCTC	NONE	.	.	.	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,3_prime_UTR_variant,,ENST00000361016,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	4245	33	52	SUCCESS
SLC38A9	153129	.	GRCh37	5	54922291	54922291	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs760543964	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	22	85	0	ENST00000318672.3:c.*31C>T			ENST00000318672				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3968.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATGAGAGC	NONE	.	.	.	.	.	ENSP00000380074	.	16/16	.	.	.	.	.	.	.	.	rs760543964	16/16	PASS	ENST00000396865	Transcript	.	.	ENSG00000177058	26907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S38A9_HUMAN	SLC38A9	HGNC	E7ESU6_HUMAN,D6RIW7_HUMAN,D6RHW0_HUMAN,D6RG31_HUMAN,D6RER8_HUMAN,D6RDH2_HUMAN,D6R9X0_HUMAN,B3KVK8_HUMAN	.	UPI00001403C2	SNV	SLC38A9,3_prime_UTR_variant,,ENST00000539768,;SLC38A9,3_prime_UTR_variant,,ENST00000396865,;SLC38A9,3_prime_UTR_variant,,ENST00000416547,;SLC38A9,3_prime_UTR_variant,,ENST00000512595,;SLC38A9,3_prime_UTR_variant,,ENST00000515629,;SLC38A9,3_prime_UTR_variant,,ENST00000318672,;SLC38A9,downstream_gene_variant,,ENST00000511233,;SLC38A9,3_prime_UTR_variant,,ENST00000505708,;SLC38A9,3_prime_UTR_variant,,ENST00000508124,;SLC38A9,non_coding_transcript_exon_variant,,ENST00000515159,;	2309	85	105	SUCCESS
MLXIPL	51085	.	GRCh37	7	73008143	73008144	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	39	0	ENST00000313375.3:c.*51dup			ENST00000313375	NM_032953.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5553.1	.	INDELOCATOR*|PINDEL	.	GTGCCCAGGGA	NONE	.	.	.	.	.	ENSP00000320886	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	insertion	MLXIPL,3_prime_UTR_variant,,ENST00000313375,;MLXIPL,3_prime_UTR_variant,,ENST00000434326,;MLXIPL,3_prime_UTR_variant,,ENST00000395189,;MLXIPL,3_prime_UTR_variant,,ENST00000429400,;MLXIPL,3_prime_UTR_variant,,ENST00000354613,;MLXIPL,3_prime_UTR_variant,,ENST00000414749,;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,3_prime_UTR_variant,,ENST00000345114,;MLXIPL,downstream_gene_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000476404,;	2658-2659	39	42	SUCCESS
EGFL7	51162	.	GRCh37	9	139566777	139566777	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs746379246	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	33	58	0	ENST00000308874.7:c.*39G>A			ENST00000308874				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7002.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGCCGCCCTG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000360764	.	10/10	.	.	.	.	.	.	.	.	rs746379246	10/10	PASS	ENST00000371699	Transcript	.	.	ENSG00000172889	20594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EGFL7_HUMAN	EGFL7	HGNC	R4GMT3_HUMAN	.	UPI0000036A42	SNV	EGFL7,3_prime_UTR_variant,,ENST00000308874,;EGFL7,3_prime_UTR_variant,,ENST00000371698,;EGFL7,3_prime_UTR_variant,,ENST00000371699,;EGFL7,3_prime_UTR_variant,,ENST00000406555,;AGPAT2,downstream_gene_variant,,ENST00000371696,;EGFL7,downstream_gene_variant,,ENST00000492862,;AGPAT2,downstream_gene_variant,,ENST00000538402,;AGPAT2,downstream_gene_variant,,ENST00000371694,;MIR126,downstream_gene_variant,,ENST00000362291,;EGFL7,downstream_gene_variant,,ENST00000490469,;EGFL7,downstream_gene_variant,,ENST00000492002,;AGPAT2,downstream_gene_variant,,ENST00000472820,;AGPAT2,downstream_gene_variant,,ENST00000470861,;	1772	58	60	SUCCESS
PLCXD1	55344	.	GRCh37	X	216084	216084	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs974093640	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	73	0	ENST00000381657.2:c.*82A>G			ENST00000381657	NM_018390.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14103.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAAATGTTG	NONE	.	.	.	.	.	ENSP00000371073	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000381657	Transcript	.	.	ENSG00000182378	23148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX1_HUMAN	PLCXD1	HGNC	K7EIC3_HUMAN,C9JP92_HUMAN	.	UPI0000048190	SNV	PLCXD1,3_prime_UTR_variant,,ENST00000381657,;PLCXD1,3_prime_UTR_variant,,ENST00000399012,;PLCXD1,3_prime_UTR_variant,,ENST00000381663,;GTPBP6,downstream_gene_variant,,ENST00000326153,;	1568	73	48	SUCCESS
MAGEE2	139599	.	GRCh37	X	75003313	75003313	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs376653283	.	TCGA-DD-A3A8-01	TCGA-DD-A3A8-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	14	53	0	ENST00000373359.2:c.*2G>T			ENST00000373359	NM_138703.4			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS14431.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGACTTCAC	NONE	byCluster	.	.	.	T:0.0001	ENSP00000362457	.	1/1	.	.	.	.	.	.	.	.	rs376653283	1/1	PASS	ENST00000373359	Transcript	.	.	ENSG00000186675	24935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGE2_HUMAN	MAGEE2	HGNC	.	.	UPI0000071D2B	SNV	MAGEE2,3_prime_UTR_variant,,ENST00000373359,;	1767	53	54	SUCCESS
R3HCC1L	27291	.	GRCh37	10	100004016	100004016	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs113775252	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	22	0	ENST00000298999.3:c.*101A>T			ENST00000298999	NM_014472.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31267.1	.	MUTECT|VARSCANS	.	TGTGCATGTTA	NONE	byCluster	.	.	.	.	ENSP00000298999	.	10/10	.	.	.	.	.	.	.	.	rs113775252	10/10	PASS	ENST00000298999	Transcript	.	.	ENSG00000166024	23512	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	R3HCL_HUMAN	R3HCC1L	HGNC	.	.	UPI00001F94F0	SNV	R3HCC1L,3_prime_UTR_variant,,ENST00000314594,;R3HCC1L,3_prime_UTR_variant,,ENST00000298999,;R3HCC1L,3_prime_UTR_variant,,ENST00000370586,;R3HCC1L,3_prime_UTR_variant,,ENST00000370584,;LOXL4,downstream_gene_variant,,ENST00000260702,;	2741	22	26	SUCCESS
GPR158	57512	.	GRCh37	10	25888209	25888209	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	30	0	ENST00000376351.3:c.*6C>A			ENST00000376351	NM_020752.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31166.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCCAGGA	NONE	.	.	.	.	.	ENSP00000365529	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376351	Transcript	.	.	ENSG00000151025	23689	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP158_HUMAN	GPR158	HGNC	.	.	UPI0000199875	SNV	GPR158,3_prime_UTR_variant,,ENST00000376351,;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	4013	30	25	SUCCESS
RBMXL2	27288	.	GRCh37	11	7112044	7112044	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	35	0	ENST00000306904.5:c.*514A>G			ENST00000306904	NM_014469.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7777.1	.	RADIA|MUTECT|MUSE	.	CAACAACAACA	NONE	.	.	.	.	.	ENSP00000304139	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000306904	Transcript	.	.	ENSG00000170748	17886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RMXL2_HUMAN	RBMXL2	HGNC	.	.	UPI000013EBA5	SNV	RBMXL2,3_prime_UTR_variant,,ENST00000306904,;	1880	35	34	SUCCESS
KNTC1	9735	.	GRCh37	12	123110815	123110815	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	6	56	0	ENST00000333479.7:c.*40A>G			ENST00000333479	NM_014708.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45002.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGAGTCTG	NONE	.	.	.	.	.	ENSP00000328236	.	64/64	.	.	.	.	.	.	.	.	.	64/64	PASS	ENST00000333479	Transcript	.	.	ENSG00000184445	17255	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KNTC1_HUMAN	KNTC1	HGNC	J3KQF2_HUMAN,F5H5V0_HUMAN	.	UPI0000047FD6	SNV	KNTC1,3_prime_UTR_variant,,ENST00000436959,;KNTC1,3_prime_UTR_variant,,ENST00000534995,;KNTC1,3_prime_UTR_variant,,ENST00000450485,;KNTC1,3_prime_UTR_variant,,ENST00000537348,;KNTC1,3_prime_UTR_variant,,ENST00000333479,;HCAR1,intron_variant,,ENST00000356987,;	6847	56	43	SUCCESS
MGP	4256	.	GRCh37	12	15034986	15034986	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	13	0	ENST00000539261.1:c.*87A>G			ENST00000539261	NM_000900.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53752.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGCCTATGTA	NONE	.	.	.	.	.	ENSP00000228938	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228938	Transcript	.	.	ENSG00000111341	7060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGP_HUMAN	MGP	HGNC	.	.	UPI0001DB9553	SNV	MGP,3_prime_UTR_variant,,ENST00000539261,;MGP,3_prime_UTR_variant,,ENST00000228938,;MGP,3_prime_UTR_variant,,ENST00000545199,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;C12orf60,upstream_gene_variant,,ENST00000543822,;MGP,downstream_gene_variant,,ENST00000507170,;	540	13	18	SUCCESS
MUC19	283463	.	GRCh37	12	40959489	40959489	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	44	102	0	ENST00000454784.4:c.*7298A>G			ENST00000454784				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGACTATA	NONE	.	.	.	.	.	ENSP00000476404	.	79/84	.	.	.	.	.	.	.	.	.	79/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,downstream_gene_variant,,ENST00000484665,;MUC19,upstream_gene_variant,,ENST00000427572,;MUC19,3_prime_UTR_variant,,ENST00000380816,;MUC19,upstream_gene_variant,,ENST00000546043,;	18924	102	113	SUCCESS
CHAMP1	283489	.	GRCh37	13	115092186	115092186	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	11	0	ENST00000361283.1:c.*430T>A			ENST00000361283	NM_032436.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9545.1	.	MUTECT|MUSE	.	TTACATGTATT	NONE	.	.	.	.	.	ENSP00000354730	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000361283	Transcript	.	.	ENSG00000198824	20311	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHAP1_HUMAN	CHAMP1	HGNC	S4R3K0_HUMAN	.	UPI00001C1F5B	SNV	CHAMP1,3_prime_UTR_variant,,ENST00000361283,;CHAMP1,downstream_gene_variant,,ENST00000463003,;LINC01054,downstream_gene_variant,,ENST00000446989,;CHAMP1,downstream_gene_variant,,ENST00000478022,;	3178	11	8	SUCCESS
NPAP1	23742	.	GRCh37	15	24927258	24927258	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	49	0	ENST00000329468.2:c.*2773C>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAACATTTA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6718	49	49	SUCCESS
LGALS9C	654346	.	GRCh37	17	18397818	18397818	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	74	116	1	ENST00000328114.6:c.*137G>A			ENST00000328114	NM_001040078.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32587.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGGTCCTG	NONE	.	.	.	.	.	ENSP00000329932	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000328114	Transcript	.	.	ENSG00000171916	33874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LEG9C_HUMAN	LGALS9C	HGNC	C9JHN9_HUMAN	.	UPI00006C1768	SNV	LGALS9C,3_prime_UTR_variant,,ENST00000584941,;LGALS9C,3_prime_UTR_variant,,ENST00000328114,;LGALS9C,3_prime_UTR_variant,,ENST00000581545,;LGALS9C,3_prime_UTR_variant,,ENST00000583322,;LGALS9C,downstream_gene_variant,,ENST00000412421,;LGALS9C,downstream_gene_variant,,ENST00000582333,;LGALS9C,3_prime_UTR_variant,,ENST00000580674,;LGALS9C,3_prime_UTR_variant,,ENST00000577691,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000584127,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000577265,;LGALS9C,downstream_gene_variant,,ENST00000579773,;LGALS9C,downstream_gene_variant,,ENST00000578450,;NOS2P2,downstream_gene_variant,,ENST00000426269,;	1289	117	96	SUCCESS
TSHZ1	10194	.	GRCh37	18	73001714	73001714	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	15	97	0				ENST00000580243				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12009.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCTCCAGA	NONE	.	.	.	.	.	ENSP00000323584	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322038	Transcript	.	.	ENSG00000179981	10669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSH1_HUMAN	TSHZ1	HGNC	H0YN23_HUMAN,H0YKA1_HUMAN,A7YF73_HUMAN	.	UPI000021BFB5	SNV	TSHZ1,3_prime_UTR_variant,,ENST00000322038,;TSHZ1,downstream_gene_variant,,ENST00000580243,;TSHZ1,downstream_gene_variant,,ENST00000560661,;TSHZ1,downstream_gene_variant,,ENST00000560918,;TSHZ1,non_coding_transcript_exon_variant,,ENST00000584217,;	4801	97	65	SUCCESS
NFIC	4782	.	GRCh37	19	3462826	3462826	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	32	0	ENST00000443272.2:c.*59A>G			ENST00000443272	NM_001245002.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59330.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGCCGG	NONE	.	.	.	.	.	ENSP00000396843	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,3_prime_UTR_variant,,ENST00000590282,;NFIC,3_prime_UTR_variant,,ENST00000341919,;NFIC,3_prime_UTR_variant,,ENST00000395111,;NFIC,3_prime_UTR_variant,,ENST00000589123,;NFIC,3_prime_UTR_variant,,ENST00000346156,;NFIC,3_prime_UTR_variant,,ENST00000443272,;NFIC,downstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;	1637	32	41	SUCCESS
ZNF611	81856	.	GRCh37	19	53207407	53207407	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	27	0				ENST00000319783	NM_030972.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12855.1	.	MUTECT|MUSE	.	AAACACTTGAA	NONE	.	.	.	.	.	ENSP00000437616	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000543227	Transcript	.	.	ENSG00000213020	28766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN611_HUMAN	ZNF611	HGNC	M0QYR0_HUMAN	.	UPI00001406C1	SNV	ZNF611,3_prime_UTR_variant,,ENST00000453741,;ZNF611,3_prime_UTR_variant,,ENST00000543227,;ZNF611,3_prime_UTR_variant,,ENST00000602162,;ZNF611,3_prime_UTR_variant,,ENST00000540744,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000319783,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000595798,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,downstream_gene_variant,,ENST00000601249,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	3176	27	32	SUCCESS
ZNF468	90333	.	GRCh37	19	53343329	53343329	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	26	0	ENST00000595646.1:c.*649T>G			ENST00000595646				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33094.1	.	MUTECT|MUSE|VARSCANS	.	GTGCCACGTGT	NONE	.	.	.	.	.	ENSP00000470381	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000595646	Transcript	.	.	ENSG00000204604	33105	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN468_HUMAN	ZNF468	HGNC	.	.	UPI00001D8191	SNV	ZNF468,3_prime_UTR_variant,,ENST00000390651,;ZNF468,3_prime_UTR_variant,,ENST00000396409,;ZNF468,3_prime_UTR_variant,,ENST00000243639,;ZNF468,3_prime_UTR_variant,,ENST00000595646,;ZNF28,intron_variant,,ENST00000596559,;ZNF28,intron_variant,,ENST00000594602,;ZNF468,downstream_gene_variant,,ENST00000597924,;	2339	26	49	SUCCESS
ZNF417	147687	.	GRCh37	19	58419865	58419865	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	213	43	207	0	ENST00000312026.5:c.*53A>T			ENST00000312026	NM_152475.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12965.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCTGTGTT	NONE	.	.	.	.	.	ENSP00000311319	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312026	Transcript	.	.	ENSG00000173480	20646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN417_HUMAN	ZNF417	HGNC	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN,B4DEU1_HUMAN	.	UPI000013F249	SNV	ZNF417,3_prime_UTR_variant,,ENST00000595559,;ZNF417,3_prime_UTR_variant,,ENST00000536263,;ZNF417,3_prime_UTR_variant,,ENST00000312026,;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000598629,;ZNF417,downstream_gene_variant,,ENST00000599251,;ZNF417,downstream_gene_variant,,ENST00000598526,;ZNF417,downstream_gene_variant,,ENST00000597515,;CTD-2583A14.9,intron_variant,,ENST00000602124,;	1946	207	257	SUCCESS
PRKAA2	5563	.	GRCh37	1	57173442	57173442	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	54	0	ENST00000371244.4:c.*56A>G			ENST00000371244	NM_006252.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS605.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAATTTTT	NONE	.	.	.	.	.	ENSP00000360290	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371244	Transcript	.	.	ENSG00000162409	9377	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAPK2_HUMAN	PRKAA2	HGNC	.	.	UPI00001250A9	SNV	PRKAA2,3_prime_UTR_variant,,ENST00000371244,;	1781	54	31	SUCCESS
FAM109B	0	.	GRCh37	22	42474732	42474732	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	147	27	181	1	ENST00000321753.3:c.*655T>A			ENST00000321753	NM_001002034.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33655.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACAGATGGTGC	NONE	.	.	.	.	.	ENSP00000312753	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000321753	Transcript	.	.	ENSG00000177096	27161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SESQ2_HUMAN	FAM109B	HGNC	B1AHR3_HUMAN	.	UPI0000160BE9	SNV	FAM109B,3_prime_UTR_variant,,ENST00000321753,;FAM109B,downstream_gene_variant,,ENST00000419475,;SMDT1,upstream_gene_variant,,ENST00000331479,;snoU13,upstream_gene_variant,,ENST00000458891,;SMDT1,upstream_gene_variant,,ENST00000422252,;SMDT1,upstream_gene_variant,,ENST00000484235,;	1622	182	175	SUCCESS
AMER3	205147	.	GRCh37	2	131522827	131522827	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	194	56	185	0				ENST00000321420				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2164.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATTTTTGG	NONE	.	.	.	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,3_prime_UTR_variant,,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000431758,;	3292	185	250	SUCCESS
AMER3	205147	.	GRCh37	2	131523920	131523920	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs376187953	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	46	0				ENST00000321420				0	.	A:0.003	.	A:0	.	A	.	protein_coding	YES	CCDS2164.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCGTCCCC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000392700	A:0.001	2/2	.	.	.	.	.	.	.	.	rs376187953	2/2	PASS	ENST00000423981	Transcript	.	A:0.0012	ENSG00000178171	26771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,3_prime_UTR_variant,,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000431758,;	4385	46	44	SUCCESS
AC079612.1	0	.	GRCh37	2	240504890	240504890	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	13	65	0	ENST00000358775.1:c.*86G>A			ENST00000358775				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTAGGTTGA	NONE	.	.	.	.	.	ENSP00000351625	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358775	Transcript	.	.	ENSG00000196758	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC079612.1	Clone_based_vega_gene	Q6ZRZ1_HUMAN	.	UPI00001C0EE3	SNV	AC079612.1,3_prime_UTR_variant,,ENST00000358775,;	802	65	88	SUCCESS
CD47	961	.	GRCh37	3	107766032	107766032	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	24	66	0	ENST00000361309.5:c.*103G>A			ENST00000361309	NM_001777.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43126.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCTTCTC	NONE	.	.	.	.	.	ENSP00000355361	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000361309	Transcript	.	.	ENSG00000196776	1682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD47_HUMAN	CD47	HGNC	.	.	UPI0000049C6C	SNV	CD47,3_prime_UTR_variant,,ENST00000398258,;CD47,3_prime_UTR_variant,,ENST00000517766,;CD47,3_prime_UTR_variant,,ENST00000361309,;CD47,3_prime_UTR_variant,,ENST00000355354,;CD47,non_coding_transcript_exon_variant,,ENST00000471694,;	1181	66	55	SUCCESS
ALG3	10195	.	GRCh37	3	183967142	183967142	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	6	55	0				ENST00000397676	NM_005787.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46968.1	.	MUTECT|MUSE	.	CCGGATGCTGA	NONE	.	383	.	.	.	ENSP00000380793	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000397676	Transcript	.	.	ENSG00000214160	23056	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALG3_HUMAN	ALG3	HGNC	.	.	UPI0000125838	SNV	ALG3,5_prime_UTR_variant,,ENST00000445626,;ALG3,5_prime_UTR_variant,,ENST00000455059,;EIF2B5,intron_variant,,ENST00000444495,;ALG3,upstream_gene_variant,,ENST00000446569,;ALG3,upstream_gene_variant,,ENST00000418734,;ECE2,upstream_gene_variant,,ENST00000324557,;ECE2,upstream_gene_variant,,ENST00000402825,;ALG3,upstream_gene_variant,,ENST00000397676,;ALG3,upstream_gene_variant,,ENST00000477959,;ALG3,upstream_gene_variant,,ENST00000423996,;ALG3,upstream_gene_variant,,ENST00000411922,;ALG3,upstream_gene_variant,,ENST00000482048,;ALG3,upstream_gene_variant,,ENST00000488976,;ALG3,upstream_gene_variant,,ENST00000461415,;ALG3,upstream_gene_variant,,ENST00000462735,;ALG3,upstream_gene_variant,,ENST00000414845,;	.	55	54	SUCCESS
MATR3	9782	.	GRCh37	5	138665116	138665116	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	26	0	ENST00000394805.3:c.*32A>G			ENST00000394805	NM_001194955.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4210.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAAAATAA	NONE	.	.	.	.	.	ENSP00000378284	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000394805	Transcript	1	.	ENSG00000015479	6912	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATR3_HUMAN	MATR3	HGNC	Q9H4N1_HUMAN,D6REK4_HUMAN,D6RE02_HUMAN,D6RCM3_HUMAN,D6RBS2_HUMAN,D6RBK5_HUMAN,D6RBI2_HUMAN,D6RB45_HUMAN,D6RAY2_HUMAN,D6RAM9_HUMAN,D6R9F3_HUMAN,D6R991_HUMAN,D6R8Z5_HUMAN,B3KM87_HUMAN	.	UPI0000000DEE	SNV	MATR3,3_prime_UTR_variant,,ENST00000394805,;MATR3,3_prime_UTR_variant,,ENST00000502929,;MATR3,3_prime_UTR_variant,,ENST00000510056,;MATR3,3_prime_UTR_variant,,ENST00000394800,;MATR3,3_prime_UTR_variant,,ENST00000504203,;MATR3,3_prime_UTR_variant,,ENST00000503811,;MATR3,3_prime_UTR_variant,,ENST00000502499,;MATR3,3_prime_UTR_variant,,ENST00000361059,;MATR3,downstream_gene_variant,,ENST00000509990,;RN7SKP64,downstream_gene_variant,,ENST00000517206,;MATR3,non_coding_transcript_exon_variant,,ENST00000502422,;MATR3,non_coding_transcript_exon_variant,,ENST00000505625,;MATR3,downstream_gene_variant,,ENST00000512040,;	2911	26	43	SUCCESS
MFAP3	4238	.	GRCh37	5	153433432	153433432	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	13	123	0	ENST00000322602.5:c.*159A>G			ENST00000322602				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4324.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAAGGCAG	NONE	.	.	.	.	.	ENSP00000409933	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000436816	Transcript	.	.	ENSG00000037749	7034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MFAP3_HUMAN	MFAP3	HGNC	E5RJ59_HUMAN,E5RHQ6_HUMAN	.	UPI00000012A1	SNV	MFAP3,3_prime_UTR_variant,,ENST00000436816,;MFAP3,3_prime_UTR_variant,,ENST00000439768,;MFAP3,3_prime_UTR_variant,,ENST00000322602,;MFAP3,downstream_gene_variant,,ENST00000520899,;MFAP3,downstream_gene_variant,,ENST00000522782,;MFAP3,downstream_gene_variant,,ENST00000522177,;MFAP3,intron_variant,,ENST00000520327,;MFAP3,intron_variant,,ENST00000521527,;MFAP3,downstream_gene_variant,,ENST00000519928,;	1467	123	96	SUCCESS
GABRA6	2559	.	GRCh37	5	161128867	161128867	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	23	0	ENST00000274545.5:c.*88T>A			ENST00000274545				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4356.1	.	MUTECT|MUSE	.	GTAGATGCTTC	NONE	.	.	.	.	.	ENSP00000274545	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000274545	Transcript	.	.	ENSG00000145863	4080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRA6_HUMAN	GABRA6	HGNC	Q71UU0_HUMAN	.	UPI000013DA14	SNV	GABRA6,3_prime_UTR_variant,,ENST00000523217,;GABRA6,3_prime_UTR_variant,,ENST00000274545,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;	1883	23	34	SUCCESS
FBXO4	26272	.	GRCh37	5	41941432	41941432	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs763048667	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	22	0	ENST00000281623.3:c.*49A>T			ENST00000281623	NM_012176.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3938.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTAAGGTCG	NONE	.	.	.	.	.	ENSP00000281623	.	7/7	.	.	.	.	.	.	.	.	rs763048667	7/7	PASS	ENST00000281623	Transcript	.	.	ENSG00000151876	13583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBX4_HUMAN	FBXO4	HGNC	.	.	UPI0000062307	SNV	FBXO4,3_prime_UTR_variant,,ENST00000509134,;FBXO4,3_prime_UTR_variant,,ENST00000281623,;FBXO4,non_coding_transcript_exon_variant,,ENST00000505566,;	1269	22	51	SUCCESS
OSTM1	28962	.	GRCh37	6	108365893	108365893	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	27	0	ENST00000193322.3:c.*96A>G			ENST00000193322	NM_014028.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5062.1	.	MUTECT|MUSE	.	AGAGCTTGACT	NONE	.	.	.	.	.	ENSP00000193322	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000193322	Transcript	.	.	ENSG00000081087	21652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSTM1_HUMAN	OSTM1	HGNC	E5RFY7_HUMAN	.	UPI00000472C4	SNV	OSTM1,3_prime_UTR_variant,,ENST00000193322,;OSTM1,downstream_gene_variant,,ENST00000440575,;OSTM1,non_coding_transcript_exon_variant,,ENST00000472669,;OSTM1,downstream_gene_variant,,ENST00000477774,;OSTM1,upstream_gene_variant,,ENST00000492130,;	1187	27	44	SUCCESS
FOXC1	2296	.	GRCh37	6	1613461	1613461	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	8	59	0	ENST00000380874.2:c.*1119G>A			ENST00000380874	NM_001453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4473.1	.	MUTECT|MUSE|VARSCANS	.	TATTTGGCTTG	NONE	.	.	.	.	.	ENSP00000370256	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380874	Transcript	.	.	ENSG00000054598	3800	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXC1_HUMAN	FOXC1	HGNC	C6KMR8_HUMAN	.	UPI000012ADC5	SNV	FOXC1,3_prime_UTR_variant,,ENST00000380874,;	2781	59	90	SUCCESS
NRSN1	140767	.	GRCh37	6	24146149	24146149	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs765575803	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	12	68	0				ENST00000378478		188		0	.	.	.	.	.	G	N/S	protein_coding	YES	CCDS4549.1	563	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAATGTCC	NONE	.	.	hmmpanther:PTHR14796,hmmpanther:PTHR14796:SF2	.	.	ENSP00000367752	.	4/4	.	.	.	.	.	.	.	.	rs765575803	4/4	PASS	ENST00000378491	Transcript	.	.	ENSG00000152954	17881	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.017)	.	tolerated(0.06)	.	NRSN1_HUMAN	NRSN1	HGNC	Q5VTS0_HUMAN	.	UPI000003E7D6	SNV	NRSN1,missense_variant,p.Asn188Ser,ENST00000378491,;NRSN1,downstream_gene_variant,,ENST00000378475,;NRSN1,downstream_gene_variant,,ENST00000378477,;NRSN1,downstream_gene_variant,,ENST00000378478,;NRSN1,intron_variant,,ENST00000468195,;	864	68	104	SUCCESS
HIST1H2BG	0	.	GRCh37	6	26216467	26216467	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs767852202	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	8	75	0	ENST00000244601.3:c.*24C>T			ENST00000244601	NM_003518.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4594.1	.	MUTECT|MUSE	.	TTTGAGTTTTA	NONE	.	.	.	.	.	ENSP00000244601	.	1/1	.	.	.	.	.	.	.	.	rs767852202	1/1	PASS	ENST00000244601	Transcript	.	.	ENSG00000187990	4746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BG	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BG,3_prime_UTR_variant,,ENST00000244601,;HIST1H2AE,upstream_gene_variant,,ENST00000303910,;	406	75	106	SUCCESS
HIST1H2BN	0	.	GRCh37	6	27806843	27806843	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs764904188	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	6	21	0	ENST00000396980.3:c.*23G>A			ENST00000396980	NM_003520.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4633.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTTCGGTCAG	NONE	.	.	.	.	.	ENSP00000380177	.	1/1	.	.	.	.	.	.	.	.	rs764904188	1/1	PASS	ENST00000396980	Transcript	.	.	ENSG00000233822	4749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B1N_HUMAN	HIST1H2BN	HGNC	.	.	UPI0000000CA1	SNV	HIST1H2BN,3_prime_UTR_variant,,ENST00000396980,;HIST1H2BN,intron_variant,,ENST00000606613,;HIST1H2AK,upstream_gene_variant,,ENST00000330180,;HIST1H2BN,splice_region_variant,,ENST00000449538,;	404	21	42	SUCCESS
RANP1	221547	.	GRCh37	6	30457636	30457636	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	25	67	0				ENST00000455094		66		0	.	.	.	.	.	T	M/I	protein_coding	YES	CCDS34379.1	198	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATGGTGCC	NONE	.	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF133,Pfam_domain:PF00129,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000365817	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376630	Transcript	.	.	ENSG00000204592	4962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.509)	.	deleterious_low_confidence(0.03)	.	.	HLA-E	HGNC	Q9TNU8_HUMAN,Q9MW44_HUMAN,Q7Z367_HUMAN,Q6KBZ5_HUMAN,Q6DU44_HUMAN,Q59EE1_HUMAN,Q30168_HUMAN,Q2L6I5_HUMAN,Q29896_HUMAN,O19744_HUMAN,O19683_HUMAN,O19682_HUMAN,I3RW89_HUMAN,E2G051_HUMAN	.	UPI000000DD70	SNV	HLA-E,missense_variant,p.Met66Ile,ENST00000376630,;HLA-E,non_coding_transcript_exon_variant,,ENST00000493699,;HLA-E,non_coding_transcript_exon_variant,,ENST00000484194,;RANP1,downstream_gene_variant,,ENST00000437856,;RANP1,downstream_gene_variant,,ENST00000455094,;	263	68	75	SUCCESS
DDAH2	23564	.	GRCh37	6	31694918	31694918	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	21	108	0	ENST00000375787.2:c.*96T>C			ENST00000375787	NM_013974.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4718.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAACTACT	NONE	.	.	.	.	.	ENSP00000364945	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000375789	Transcript	.	.	ENSG00000213722	2716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDAH2_HUMAN	DDAH2	HGNC	Q5SSV3_HUMAN,Q5SRR8_HUMAN	.	UPI0000033BA3	SNV	DDAH2,3_prime_UTR_variant,,ENST00000375787,;DDAH2,3_prime_UTR_variant,,ENST00000375792,;DDAH2,3_prime_UTR_variant,,ENST00000375789,;DDAH2,3_prime_UTR_variant,,ENST00000437288,;CLIC1,downstream_gene_variant,,ENST00000395892,;C6orf25,downstream_gene_variant,,ENST00000375809,;C6orf25,downstream_gene_variant,,ENST00000375804,;CLIC1,downstream_gene_variant,,ENST00000375784,;C6orf25,downstream_gene_variant,,ENST00000375806,;C6orf25,downstream_gene_variant,,ENST00000375814,;C6orf25,downstream_gene_variant,,ENST00000480039,;C6orf25,downstream_gene_variant,,ENST00000375805,;CLIC1,downstream_gene_variant,,ENST00000375779,;CLIC1,downstream_gene_variant,,ENST00000375780,;DDAH2,downstream_gene_variant,,ENST00000416410,;C6orf25,downstream_gene_variant,,ENST00000375810,;DDAH2,downstream_gene_variant,,ENST00000436437,;DDAH2,non_coding_transcript_exon_variant,,ENST00000483792,;DDAH2,non_coding_transcript_exon_variant,,ENST00000480913,;DDAH2,non_coding_transcript_exon_variant,,ENST00000469963,;C6orf25,downstream_gene_variant,,ENST00000471545,;DDAH2,downstream_gene_variant,,ENST00000488119,;C6orf25,downstream_gene_variant,,ENST00000485548,;C6orf25,downstream_gene_variant,,ENST00000460663,;C6orf25,downstream_gene_variant,,ENST00000466312,;	1585	108	151	SUCCESS
SLC44A4	80736	.	GRCh37	6	31827993	31827993	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	244	36	202	0				ENST00000229729	NM_025257.2	283		0	.	.	.	.	.	C	N/D	protein_coding	YES	CCDS4723.1	847	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTTCTGGT	NONE	.	.	hmmpanther:PTHR10628,Pfam_domain:PF13088,Gene3D:2.120.10.10,Superfamily_domains:SSF50939	.	.	ENSP00000364782	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000375631	Transcript	.	.	ENSG00000204386	7758	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.95)	.	tolerated(0.13)	.	NEUR1_HUMAN	NEU1	HGNC	Q6Q4G8_HUMAN,Q6Q4G7_HUMAN,Q5JQI0_HUMAN	.	UPI000012FF46	SNV	NEU1,missense_variant,p.Asn283Asp,ENST00000375631,;SLC44A4,downstream_gene_variant,,ENST00000544672,;SLC44A4,downstream_gene_variant,,ENST00000229729,;SLC44A4,downstream_gene_variant,,ENST00000375562,;SLC44A4,downstream_gene_variant,,ENST00000487680,;NEU1,non_coding_transcript_exon_variant,,ENST00000495807,;NEU1,non_coding_transcript_exon_variant,,ENST00000480384,;NEU1,intron_variant,,ENST00000491768,;	977	202	280	SUCCESS
FUT9	10690	.	GRCh37	6	96658205	96658205	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	72	1	ENST00000302103.5:c.*6094A>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|VARSCANS	.	GGGGCAGGTTA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	7500	73	60	SUCCESS
IFNA4	3441	.	GRCh37	9	21186805	21186805	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	7	52	0	ENST00000421715.1:c.*156T>C			ENST00000421715	NM_021068.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6498.1	.	MUTECT|MUSE	.	TGCACAGGTAT	NONE	.	.	.	.	.	ENSP00000412897	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000421715	Transcript	.	.	ENSG00000236637	5425	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFNA4_HUMAN	IFNA4	HGNC	Q9UMJ2_HUMAN	.	UPI000002BA77	SNV	IFNA4,3_prime_UTR_variant,,ENST00000421715,;IFNWP9,downstream_gene_variant,,ENST00000448683,;	794	52	43	SUCCESS
RMI1	80010	.	GRCh37	9	86618864	86618864	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs945970475	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	22	0	ENST00000325875.3:c.*1085A>G			ENST00000325875	NM_024945.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6669.1	.	MUTECT|MUSE	.	TTACCATTCTT	NONE	.	.	.	.	.	ENSP00000317039	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325875	Transcript	.	.	ENSG00000178966	25764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RMI1_HUMAN	RMI1	HGNC	.	.	UPI000014178F	SNV	RMI1,3_prime_UTR_variant,,ENST00000325875,;RMI1,downstream_gene_variant,,ENST00000445877,;	3295	22	25	SUCCESS
TIMM8A	1678	.	GRCh37	X	100601379	100601379	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	44	1	ENST00000372902.3:c.*108C>T			ENST00000372902	NM_004085.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14481.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	CAAGAGTAACA	NONE	.	.	.	.	.	ENSP00000361993	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000372902	Transcript	.	.	ENSG00000126953	11817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIM8A_HUMAN	TIMM8A	HGNC	.	.	UPI000012D5E9	SNV	TIMM8A,3_prime_UTR_variant,,ENST00000372902,;BTK,downstream_gene_variant,,ENST00000372880,;BTK,downstream_gene_variant,,ENST00000308731,;TIMM8A,downstream_gene_variant,,ENST00000480575,;	934	45	50	SUCCESS
MAGEA4	4103	.	GRCh37	X	151093288	151093288	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1169191655	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	152	35	224	0	ENST00000276344.2:c.*198A>G			ENST00000276344	NM_001011548.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14702.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAATTGTT	NONE	.	.	.	.	.	ENSP00000353379	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360243	Transcript	.	.	ENSG00000147381	6802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA4_HUMAN	MAGEA4	HGNC	C9JZJ5_HUMAN,C9JK50_HUMAN,C9JIR1_HUMAN,C9J9C2_HUMAN,B4DTE6_HUMAN	.	UPI000013EA1F	SNV	MAGEA4,3_prime_UTR_variant,,ENST00000370335,;MAGEA4,3_prime_UTR_variant,,ENST00000276344,;MAGEA4,3_prime_UTR_variant,,ENST00000393921,;MAGEA4,3_prime_UTR_variant,,ENST00000370337,;MAGEA4,3_prime_UTR_variant,,ENST00000393920,;MAGEA4,3_prime_UTR_variant,,ENST00000370340,;MAGEA4,3_prime_UTR_variant,,ENST00000360243,;MAGEA4,downstream_gene_variant,,ENST00000416020,;MAGEA4,downstream_gene_variant,,ENST00000448295,;MAGEA4,downstream_gene_variant,,ENST00000431971,;MAGEA4,downstream_gene_variant,,ENST00000425182,;MAGEA4,downstream_gene_variant,,ENST00000431963,;MAGEA4,downstream_gene_variant,,ENST00000441865,;MAGEA4,downstream_gene_variant,,ENST00000430273,;MAGEA4,downstream_gene_variant,,ENST00000457310,;	1419	224	187	SUCCESS
KRBOX4	55634	.	GRCh37	X	46332490	46332490	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1292219441	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	211	49	327	0	ENST00000344302.4:c.*43T>C			ENST00000344302	NM_001129898.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48097.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTCATAA	NONE	.	.	.	.	.	ENSP00000345797	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000344302	Transcript	.	.	ENSG00000147121	26007	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRBX4_HUMAN	KRBOX4	HGNC	.	.	UPI00004A3A50	SNV	KRBOX4,3_prime_UTR_variant,,ENST00000487081,;KRBOX4,3_prime_UTR_variant,,ENST00000298190,;KRBOX4,3_prime_UTR_variant,,ENST00000344302,;KRBOX4,3_prime_UTR_variant,,ENST00000360017,;KRBOX4,intron_variant,,ENST00000478600,;KRBOX4,downstream_gene_variant,,ENST00000377919,;	1190	327	260	SUCCESS
USP27X	389856	.	GRCh37	X	49646580	49646580	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A3A9-01	TCGA-DD-A3A9-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	29	0	ENST00000508866.2:c.*353A>G			ENST00000508866	NM_001145073.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS65260.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTAAAACAT	NONE	.	.	.	.	.	ENSP00000475071	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000508866	Transcript	.	.	ENSG00000242013	13486	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP27_HUMAN	USP27X	HGNC	.	.	UPI0000EE7A8D	SNV	USP27X,3_prime_UTR_variant,,ENST00000508866,;USP27X-AS1,upstream_gene_variant,,ENST00000437322,;	2111	29	32	SUCCESS
SLC6A17	388662	.	GRCh37	1	110741142	110741142	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	28	0	ENST00000331565.4:c.*76G>A			ENST00000331565	NM_001010898.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30799.1	.	RADIA|MUTECT|MUSE	.	CTTGAGGTGGC	NONE	.	.	.	.	.	ENSP00000330199	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000331565	Transcript	.	.	ENSG00000197106	31399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S6A17_HUMAN	SLC6A17	HGNC	.	.	UPI0000470B3D	SNV	SLC6A17,3_prime_UTR_variant,,ENST00000331565,;SLC6A17,downstream_gene_variant,,ENST00000465159,;	2745	28	11	SUCCESS
RANP1	221547	.	GRCh37	6	30457628	30457628	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-DD-A4NA-01	TCGA-DD-A4NA-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	86	0				ENST00000455094		64		0	.	.	.	.	.	A	P/T	protein_coding	YES	CCDS34379.1	190	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTCCGAGG	NONE	.	.	hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF133,Pfam_domain:PF00129,Gene3D:3.30.500.10,Superfamily_domains:SSF54452	.	.	ENSP00000365817	.	2/8	.	.	.	.	.	.	.	.	.	2/8	PASS	ENST00000376630	Transcript	.	.	ENSG00000204592	4962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.536)	.	deleterious_low_confidence(0)	.	.	HLA-E	HGNC	Q9TNU8_HUMAN,Q9MW44_HUMAN,Q7Z367_HUMAN,Q6KBZ5_HUMAN,Q6DU44_HUMAN,Q59EE1_HUMAN,Q30168_HUMAN,Q2L6I5_HUMAN,Q29896_HUMAN,O19744_HUMAN,O19683_HUMAN,O19682_HUMAN,I3RW89_HUMAN,E2G051_HUMAN	.	UPI000000DD70	SNV	HLA-E,missense_variant,p.Pro64Thr,ENST00000376630,;HLA-E,non_coding_transcript_exon_variant,,ENST00000493699,;HLA-E,non_coding_transcript_exon_variant,,ENST00000484194,;RANP1,downstream_gene_variant,,ENST00000437856,;RANP1,downstream_gene_variant,,ENST00000455094,;	255	86	42	SUCCESS
SEZ6L2	26470	.	GRCh37	16	29882980	29882980	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1271842604	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	34	130	0	ENST00000308713.5:c.*40C>T			ENST00000308713	NM_001114099.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10659.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGGGAGG	NONE	.	.	.	.	.	ENSP00000312550	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000308713	Transcript	.	.	ENSG00000174938	30844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SE6L2_HUMAN	SEZ6L2	HGNC	B3KNF3_HUMAN	.	UPI0000366B1B	SNV	SEZ6L2,3_prime_UTR_variant,,ENST00000308713,;SEZ6L2,3_prime_UTR_variant,,ENST00000350527,;SEZ6L2,3_prime_UTR_variant,,ENST00000346932,;SEZ6L2,3_prime_UTR_variant,,ENST00000537485,;CDIPT-AS1,downstream_gene_variant,,ENST00000398859,;CDIPT-AS1,downstream_gene_variant,,ENST00000565014,;	3301	130	130	SUCCESS
DST	667	.	GRCh37	6	56510699	56510699	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs80241715	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	199	44	267	0				ENST00000244364	NM_015548.4			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS47443.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCTAGCAT	NONE	byFrequency|byCluster|by1000G	2905	.	C:0.0248	.	ENSP00000244364	C:0	.	.	.	.	.	.	.	.	.	rs80241715	.	common_in_exac	ENST00000244364	Transcript	.	C:0.0050	ENSG00000151914	1090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	DYST_HUMAN	DST	HGNC	Q86T18_HUMAN	.	UPI00001C1577	SNV	DST,synonymous_variant,p.%3D,ENST00000449297,;DST,synonymous_variant,p.%3D,ENST00000370754,;DST,synonymous_variant,p.%3D,ENST00000370769,;DST,synonymous_variant,p.%3D,ENST00000312431,;DST,synonymous_variant,p.%3D,ENST00000421834,;DST,synonymous_variant,p.%3D,ENST00000370788,;DST,synonymous_variant,p.%3D,ENST00000520645,;DST,synonymous_variant,p.%3D,ENST00000361203,;DST,upstream_gene_variant,,ENST00000439203,;DST,upstream_gene_variant,,ENST00000446842,;DST,upstream_gene_variant,,ENST00000244364,;DST,upstream_gene_variant,,ENST00000370765,;DST,upstream_gene_variant,,ENST00000518935,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,upstream_gene_variant,,ENST00000518828,;	.	267	243	SUCCESS
FUT9	10690	.	GRCh37	6	96658209	96658209	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	77	0	ENST00000302103.5:c.*6098T>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTTATTTA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	7504	77	72	SUCCESS
TOX	9760	.	GRCh37	8	59720196	59720196	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NB-01	TCGA-DD-A4NB-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	40	0	ENST00000361421.1:c.*110T>A			ENST00000361421	NM_014729.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34897.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTAGCAAC	NONE	.	.	.	.	.	ENSP00000354842	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361421	Transcript	.	.	ENSG00000198846	18988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOX_HUMAN	TOX	HGNC	B4DYA1_HUMAN	.	UPI0000070A73	SNV	TOX,3_prime_UTR_variant,,ENST00000361421,;	1912	40	45	SUCCESS
RNASEK	440400	.	GRCh37	17	6917669	6917669	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs566474251	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	7	25	0	ENST00000402093.1:c.*64C>T			ENST00000402093		29		0	.	T:0	.	T:0	.	T	W/*	protein_coding	YES	.	87	RADIA|MUTECT|MUSE	.	GTCACCCAGGT	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000468923	T:0.001	1/3	.	.	.	.	.	.	.	.	rs566474251	1/3	PASS	ENST00000593646	Transcript	.	T:0.0002	ENSG00000269871	.	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	.	AC040977.1	Clone_based_ensembl_gene	M0QX62_HUMAN	.	UPI00015DFA91	SNV	AC040977.1,stop_gained,p.Trp29Ter,ENST00000593646,;RNASEK,3_prime_UTR_variant,,ENST00000552842,;RNASEK,3_prime_UTR_variant,,ENST00000402093,;RNASEK,3_prime_UTR_variant,,ENST00000552321,;RNASEK,3_prime_UTR_variant,,ENST00000548577,;RNASEK-C17orf49,intron_variant,,ENST00000547302,;RNASEK,downstream_gene_variant,,ENST00000570898,;C17orf49,upstream_gene_variant,,ENST00000546760,;AC027763.2,upstream_gene_variant,,ENST00000573939,;C17orf49,upstream_gene_variant,,ENST00000546495,;AC027763.2,upstream_gene_variant,,ENST00000574377,;AC027763.2,upstream_gene_variant,,ENST00000399541,;C17orf49,upstream_gene_variant,,ENST00000552402,;C17orf49,upstream_gene_variant,,ENST00000552775,;C17orf49,upstream_gene_variant,,ENST00000439424,;ALOX12,downstream_gene_variant,,ENST00000251535,;AC027763.2,upstream_gene_variant,,ENST00000575889,;AC027763.2,upstream_gene_variant,,ENST00000399540,;AC027763.2,upstream_gene_variant,,ENST00000575727,;MIR497HG,downstream_gene_variant,,ENST00000385194,;MIR497HG,downstream_gene_variant,,ENST00000385056,;RP11-589P10.7,intron_variant,,ENST00000572547,;MIR497HG,downstream_gene_variant,,ENST00000572453,;MIR497HG,downstream_gene_variant,,ENST00000443997,;C17orf49,upstream_gene_variant,,ENST00000550038,;C17orf49,upstream_gene_variant,,ENST00000547709,;RNASEK,3_prime_UTR_variant,,ENST00000549393,;RNASEK,3_prime_UTR_variant,,ENST00000546395,;RNASEK,3_prime_UTR_variant,,ENST00000552039,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000549775,;RNASEK,non_coding_transcript_exon_variant,,ENST00000552176,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000547863,;RNASEK-C17orf49,non_coding_transcript_exon_variant,,ENST00000607564,;AC027763.2,upstream_gene_variant,,ENST00000571010,;C17orf49,upstream_gene_variant,,ENST00000549857,;C17orf49,upstream_gene_variant,,ENST00000547747,;ALOX12,downstream_gene_variant,,ENST00000406228,;RNASEK,downstream_gene_variant,,ENST00000575822,;AC027763.2,upstream_gene_variant,,ENST00000570562,;AC027763.2,upstream_gene_variant,,ENST00000572385,;	87	25	36	SUCCESS
KRTDAP	388533	.	GRCh37	19	35978289	35978289	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	73	0	ENST00000338897.3:c.*41A>T			ENST00000338897	NM_207392.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12462.1	.	RADIA|MUTECT|MUSE	.	GAGAATCAGCG	NONE	.	.	.	.	.	ENSP00000339251	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000338897	Transcript	.	.	ENSG00000188508	16313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KTDAP_HUMAN	KRTDAP	HGNC	.	.	UPI0000035979	SNV	KRTDAP,3_prime_UTR_variant,,ENST00000338897,;KRTDAP,3_prime_UTR_variant,,ENST00000484218,;KRTDAP,non_coding_transcript_exon_variant,,ENST00000479340,;	430	73	93	SUCCESS
MATK	4145	.	GRCh37	19	3789388	3789388	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs771389475	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	44	0				ENST00000310132	NM_139355.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCTCCTC	NONE	.	.	.	.	.	ENSP00000378485	.	2/14	.	.	.	.	.	.	.	.	rs771389475	2/14	PASS	ENST00000395045	Transcript	.	.	ENSG00000007264	6906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATK_HUMAN	MATK	HGNC	K7ERY4_HUMAN,K7EQV3_HUMAN	.	UPI000013FB32	SNV	MATK,5_prime_UTR_variant,,ENST00000395045,;MATK,5_prime_UTR_variant,,ENST00000590980,;MATK,intron_variant,,ENST00000590849,;MATK,upstream_gene_variant,,ENST00000587180,;MATK,upstream_gene_variant,,ENST00000585778,;MATK,upstream_gene_variant,,ENST00000395040,;MATK,upstream_gene_variant,,ENST00000591059,;MATK,upstream_gene_variant,,ENST00000310132,;MATK,upstream_gene_variant,,ENST00000590028,;MATK,non_coding_transcript_exon_variant,,ENST00000590821,;MATK,downstream_gene_variant,,ENST00000592300,;MATK,downstream_gene_variant,,ENST00000592612,;	296	44	83	SUCCESS
ZNF468	90333	.	GRCh37	19	53343429	53343429	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	28	0	ENST00000595646.1:c.*549C>A			ENST00000595646				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33094.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATGAAAAC	NONE	.	.	.	.	.	ENSP00000470381	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000595646	Transcript	.	.	ENSG00000204604	33105	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN468_HUMAN	ZNF468	HGNC	.	.	UPI00001D8191	SNV	ZNF468,3_prime_UTR_variant,,ENST00000390651,;ZNF468,3_prime_UTR_variant,,ENST00000396409,;ZNF468,3_prime_UTR_variant,,ENST00000243639,;ZNF468,3_prime_UTR_variant,,ENST00000595646,;ZNF28,intron_variant,,ENST00000596559,;ZNF28,intron_variant,,ENST00000594602,;ZNF468,downstream_gene_variant,,ENST00000597924,;	2239	28	25	SUCCESS
MYOM3	127294	.	GRCh37	1	24383768	24383768	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	22	91	0	ENST00000374434.3:c.*86A>G			ENST00000374434	NM_152372.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41281.1	.	MUTECT|MUSE	.	CCCTGTAGCCT	NONE	.	.	.	.	.	ENSP00000363557	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000374434	Transcript	.	.	ENSG00000142661	26679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYOM3_HUMAN	MYOM3	HGNC	.	.	UPI0000203A5D	SNV	MYOM3,3_prime_UTR_variant,,ENST00000374434,;MYOM3,3_prime_UTR_variant,,ENST00000338909,;MYOM3,3_prime_UTR_variant,,ENST00000330966,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;	4563	91	114	SUCCESS
GADD45A	1647	.	GRCh37	1	68153485	68153485	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4ND-01	TCGA-DD-A4ND-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	63	0	ENST00000370986.4:c.*28A>G			ENST00000370986	NM_001924.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS640.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACCAAATTG	NONE	.	.	.	.	.	ENSP00000360025	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370986	Transcript	.	.	ENSG00000116717	4095	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA45A_HUMAN	GADD45A	HGNC	.	.	UPI000012AF8C	SNV	GADD45A,3_prime_UTR_variant,,ENST00000370986,;GADD45A,3_prime_UTR_variant,,ENST00000370985,;GADD45A,downstream_gene_variant,,ENST00000484245,;GADD45A,downstream_gene_variant,,ENST00000460575,;	960	63	55	SUCCESS
RP5-1182A14.5	0	.	GRCh37	1	16945481	16945481	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs1260408828	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	305	56	299	0				ENST00000607700				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCGGCTCT	NONE	.	1257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000607700	Transcript	.	.	ENSG00000271732	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP5-1182A14.5	Clone_based_vega_gene	.	.	.	SNV	CROCCP2,non_coding_transcript_exon_variant,,ENST00000540383,;CROCCP2,non_coding_transcript_exon_variant,,ENST00000412962,;RP5-1182A14.5,downstream_gene_variant,,ENST00000607700,;	.	299	361	SUCCESS
PAX3	5077	.	GRCh37	2	223066581	223066581	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	30	42	0	ENST00000350526.4:c.*62G>A			ENST00000350526	NM_181457.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2448.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCCTCTA	NONE	.	.	.	.	.	ENSP00000375921	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODIFIER	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,3_prime_UTR_variant,,ENST00000350526,;PAX3,intron_variant,,ENST00000392070,;PAX3,intron_variant,,ENST00000336840,;PAX3,intron_variant,,ENST00000392069,;PAX3,intron_variant,,ENST00000344493,;PAX3,intron_variant,,ENST00000409551,;PAX3,downstream_gene_variant,,ENST00000464706,;PAX3,downstream_gene_variant,,ENST00000555548,;	.	42	39	SUCCESS
SEMA4F	10505	.	GRCh37	2	74907398	74907399	+	3_prime_UTR_variant	3'UTR	INS	-	-	G	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	22	42	0	ENST00000357877.2:c.*67dup			ENST00000357877	NM_004263.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1955.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GATGCTGGGGG	NONE	.	.	.	.	.	ENSP00000350547	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000357877	Transcript	.	.	ENSG00000135622	10734	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SEM4F_HUMAN	SEMA4F	HGNC	.	.	UPI0000001BF5	insertion	SEMA4F,3_prime_UTR_variant,,ENST00000357877,;SEMA4F,3_prime_UTR_variant,,ENST00000339773,;SEMA4F,downstream_gene_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,downstream_gene_variant,,ENST00000420077,;	2524-2525	42	72	SUCCESS
HTR5A	3361	.	GRCh37	7	154876255	154876255	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	26	0	ENST00000287907.2:c.*58C>A			ENST00000287907	NM_024012.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5936.1	.	MUTECT|MUSE	.	CAGTTCATCCA	NONE	.	.	.	.	.	ENSP00000287907	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000287907	Transcript	.	.	ENSG00000157219	5300	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	5HT5A_HUMAN	HTR5A	HGNC	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN	.	UPI000004477E	SNV	HTR5A,3_prime_UTR_variant,,ENST00000287907,;HTR5A,non_coding_transcript_exon_variant,,ENST00000486819,;	1708	26	26	SUCCESS
PNMA6C	0	.	GRCh37	X	152243161	152243161	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	21	55	0	ENST00000421798.3:c.*516G>T			ENST00000421798	NM_001170944.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55533.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAAGAACAG	NONE	.	.	.	.	.	ENSP00000391488	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421798	Transcript	.	.	ENSG00000235961	41914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PNM6C_HUMAN	PNMA6C	HGNC	.	.	UPI000006E985	SNV	PNMA6C,3_prime_UTR_variant,,ENST00000421798,;PNMA6A,intron_variant,,ENST00000535416,;PNMA6D,downstream_gene_variant,,ENST00000538162,;	2015	55	49	SUCCESS
PABPC5	140886	.	GRCh37	X	90692611	90692611	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NE-01	TCGA-DD-A4NE-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	24	86	0	ENST00000312600.3:c.*886C>T			ENST00000312600	NM_080832.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14460.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCAACTG	NONE	.	.	.	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,3_prime_UTR_variant,,ENST00000312600,;PABPC5,downstream_gene_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	2249	86	70	SUCCESS
CCDC88B	283234	.	GRCh37	11	64124999	64124999	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	54	0	ENST00000356786.5:c.*433C>T			ENST00000356786	NM_032251.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8072.2	.	MUTECT|MUSE	.	TGCAGCCTCCT	NONE	.	.	.	.	.	ENSP00000349238	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000356786	Transcript	.	.	ENSG00000168071	26757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC88B_HUMAN	CCDC88B	HGNC	.	.	UPI00001FAAA6	SNV	CCDC88B,3_prime_UTR_variant,,ENST00000356786,;RPS6KA4,upstream_gene_variant,,ENST00000294261,;CCDC88B,downstream_gene_variant,,ENST00000301897,;CCDC88B,downstream_gene_variant,,ENST00000359902,;RPS6KA4,upstream_gene_variant,,ENST00000334205,;RPS6KA4,upstream_gene_variant,,ENST00000528057,;RPS6KA4,upstream_gene_variant,,ENST00000530504,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000472524,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000479965,;CCDC88B,downstream_gene_variant,,ENST00000463837,;CCDC88B,downstream_gene_variant,,ENST00000473405,;CCDC88B,downstream_gene_variant,,ENST00000494080,;RPS6KA4,upstream_gene_variant,,ENST00000528355,;RPS6KA4,upstream_gene_variant,,ENST00000532496,;RPS6KA4,upstream_gene_variant,,ENST00000530383,;RPS6KA4,upstream_gene_variant,,ENST00000532885,;RPS6KA4,upstream_gene_variant,,ENST00000531659,;	4908	54	36	SUCCESS
ARHGAP11A	9824	.	GRCh37	15	32930159	32930159	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	18	0	ENST00000361627.3:c.*113G>A			ENST00000361627	NM_014783.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10028.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTTGCTCTA	NONE	.	.	.	.	.	ENSP00000355090	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000361627	Transcript	.	.	ENSG00000198826	15783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHGBA_HUMAN	ARHGAP11A	HGNC	B4DZN9_HUMAN	.	UPI0000071553	SNV	ARHGAP11A,3_prime_UTR_variant,,ENST00000361627,;ARHGAP11A,3_prime_UTR_variant,,ENST00000565905,;ARHGAP11A,downstream_gene_variant,,ENST00000567348,;SCG5,upstream_gene_variant,,ENST00000497208,;SCG5,upstream_gene_variant,,ENST00000494364,;SCG5,upstream_gene_variant,,ENST00000300175,;ARHGAP11A,downstream_gene_variant,,ENST00000563864,;ARHGAP11A,downstream_gene_variant,,ENST00000543522,;SCG5,upstream_gene_variant,,ENST00000413748,;ARHGAP11A,downstream_gene_variant,,ENST00000562481,;ARHGAP11A,downstream_gene_variant,,ENST00000564918,;	3907	18	21	SUCCESS
HEXIM1	10614	.	GRCh37	17	43227700	43227700	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	46	125	1	ENST00000332499.2:c.*63T>C			ENST00000332499	NM_006460.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11495.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTATATACA	NONE	.	.	.	.	.	ENSP00000328773	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332499	Transcript	.	.	ENSG00000186834	24953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEXI1_HUMAN	HEXIM1	HGNC	.	.	UPI000006E405	SNV	HEXIM1,3_prime_UTR_variant,,ENST00000332499,;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;	3017	126	105	SUCCESS
MIR3186	100422944	.	GRCh37	17	79414175	79414175	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	44	0				ENST00000577404		1093		0	.	.	.	.	.	T	A/S	protein_coding	YES	.	3277	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGGGGCCCAG	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.115)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Ala1005Ser,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Ala1093Ser,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;RP11-1055B8.7,downstream_gene_variant,,ENST00000570375,;	3277	44	33	SUCCESS
VN1R85P	100312830	.	GRCh37	19	22362974	22362974	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	25	0				ENST00000601587		515		0	.	.	.	.	.	C	S/R	protein_coding	YES	CCDS42539.1	1545	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCAGCTGAA	BUFFER|p.S518L|c.1553C>T|3	.	.	Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,PROSITE_profiles:PS50157	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.313)	.	tolerated(0.22)	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,missense_variant,p.Ser515Arg,ENST00000397121,;VN1R85P,upstream_gene_variant,,ENST00000601587,;	1863	25	23	SUCCESS
DHX34	9704	.	GRCh37	19	47885451	47885451	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000328771.4:c.*81C>A			ENST00000328771	NM_014681.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12700.1	.	MUTECT|MUSE	.	CTGAACCCCCA	NONE	.	.	.	.	.	ENSP00000331907	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000328771	Transcript	.	.	ENSG00000134815	16719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHX34_HUMAN	DHX34	HGNC	.	.	UPI0000202759	SNV	DHX34,3_prime_UTR_variant,,ENST00000328771,;DHX34,3_prime_UTR_variant,,ENST00000460681,;DHX34,downstream_gene_variant,,ENST00000486327,;	3862	12	10	SUCCESS
SPRR1B	6699	.	GRCh37	1	153005170	153005170	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1570971581	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	224	81	238	0	ENST00000307098.4:c.*79T>C			ENST00000307098	NM_003125.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30863.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATTTGCCT	NONE	.	.	.	.	.	ENSP00000306461	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307098	Transcript	.	.	ENSG00000169469	11260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,3_prime_UTR_variant,,ENST00000307098,;SPRR1B,downstream_gene_variant,,ENST00000392661,;	414	238	305	SUCCESS
IPP	3652	.	GRCh37	1	46165621	46165621	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	131	1	ENST00000396478.3:c.*17G>A			ENST00000396478	NM_005897.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30702.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	GTGCTCTGTTA	NONE	.	.	.	.	.	ENSP00000379739	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000396478	Transcript	.	.	ENSG00000197429	6108	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IPP_HUMAN	IPP	HGNC	.	.	UPI000012D80B	SNV	IPP,3_prime_UTR_variant,,ENST00000396478,;IPP,intron_variant,,ENST00000359942,;RP11-767N6.7,upstream_gene_variant,,ENST00000430643,;IPP,non_coding_transcript_exon_variant,,ENST00000495072,;IPP,upstream_gene_variant,,ENST00000461718,;	1875	133	91	SUCCESS
LPHN2	0	.	GRCh37	1	82456867	82456867	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs773921326	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	17	0	ENST00000370717.2:c.*38A>G			ENST00000370717				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS689.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGAGTATTAAT	NONE	byFrequency	.	.	.	.	ENSP00000322270	.	20/20	.	.	.	.	.	.	.	.	rs773921326	20/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,3_prime_UTR_variant,,ENST00000370730,;LPHN2,3_prime_UTR_variant,,ENST00000335786,;LPHN2,3_prime_UTR_variant,,ENST00000370713,;LPHN2,3_prime_UTR_variant,,ENST00000370717,;LPHN2,3_prime_UTR_variant,,ENST00000370727,;LPHN2,3_prime_UTR_variant,,ENST00000370725,;LPHN2,3_prime_UTR_variant,,ENST00000319517,;LPHN2,3_prime_UTR_variant,,ENST00000271029,;LPHN2,3_prime_UTR_variant,,ENST00000370728,;LPHN2,3_prime_UTR_variant,,ENST00000359929,;LPHN2,3_prime_UTR_variant,,ENST00000370715,;LPHN2,3_prime_UTR_variant,,ENST00000370723,;LPHN2,3_prime_UTR_variant,,ENST00000402328,;LPHN2,3_prime_UTR_variant,,ENST00000370721,;LPHN2,3_prime_UTR_variant,,ENST00000394879,;LPHN2,3_prime_UTR_variant,,ENST00000449420,;LPHN2,non_coding_transcript_exon_variant,,ENST00000469377,;LPHN2,downstream_gene_variant,,ENST00000472424,;LPHN2,downstream_gene_variant,,ENST00000464775,;LPHN2,downstream_gene_variant,,ENST00000464551,;	4466	17	16	SUCCESS
SPTLC3	55304	.	GRCh37	20	13145641	13145641	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	10	0	ENST00000399002.2:c.*127A>G			ENST00000399002	NM_018327.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13115.2	.	MUTECT|MUSE	.	GATTGAACTGA	NONE	.	.	.	.	.	ENSP00000381968	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000399002	Transcript	.	.	ENSG00000172296	16253	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPTC3_HUMAN	SPTLC3	HGNC	Q8N2H1_HUMAN,B1AKS2_HUMAN	.	UPI0000D6BFB5	SNV	SPTLC3,3_prime_UTR_variant,,ENST00000399002,;SPTLC3,downstream_gene_variant,,ENST00000378194,;SPTLC3,downstream_gene_variant,,ENST00000431275,;	2060	10	13	SUCCESS
TMEM211	255349	.	GRCh37	22	25331243	25331243	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	22	0	ENST00000423535.1:c.*57T>C			ENST00000423535				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33624.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTACATGA	NONE	.	.	.	.	.	ENSP00000385494	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000407886	Transcript	.	.	ENSG00000206069	33725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM211_HUMAN	TMEM211	HGNC	.	.	UPI0000160696	SNV	TMEM211,3_prime_UTR_variant,,ENST00000423535,;TMEM211,3_prime_UTR_variant,,ENST00000407886,;TMEM211,3_prime_UTR_variant,,ENST00000382744,;	700	22	18	SUCCESS
DEPDC5	9681	.	GRCh37	22	32302445	32302445	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	8	228	0	ENST00000400246.1:c.*54A>G			ENST00000400246		1583		0	.	.	.	.	.	G	T/A	protein_coding	YES	CCDS46692.1	4747	MUTECT|MUSE	.	TCTGGACAAGT	NONE	.	.	hmmpanther:PTHR13179	.	.	ENSP00000371546	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000382112	Transcript	.	.	ENSG00000100150	18423	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0)	.	tolerated(0.21)	.	DEPD5_HUMAN	DEPDC5	HGNC	C9JGS4_HUMAN,B4DGG3_HUMAN	.	UPI00004708D5	SNV	DEPDC5,missense_variant,p.Thr1570Ala,ENST00000266091,;DEPDC5,missense_variant,p.Thr1561Ala,ENST00000400248,;DEPDC5,missense_variant,p.Thr1583Ala,ENST00000382112,;DEPDC5,missense_variant,p.Thr968Ala,ENST00000433147,;DEPDC5,missense_variant,p.Thr1492Ala,ENST00000535622,;DEPDC5,missense_variant,p.Thr409Ala,ENST00000539165,;DEPDC5,missense_variant,p.Thr1561Ala,ENST00000400249,;DEPDC5,3_prime_UTR_variant,,ENST00000382105,;DEPDC5,3_prime_UTR_variant,,ENST00000400246,;DEPDC5,3_prime_UTR_variant,,ENST00000382111,;DEPDC5,intron_variant,,ENST00000497340,;DEPDC5,3_prime_UTR_variant,,ENST00000448753,;	4817	228	147	SUCCESS
P2RY1	5028	.	GRCh37	3	152555714	152555714	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	45	99	1	ENST00000305097.3:c.*1021T>A			ENST00000305097	NM_002563.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3169.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATACTCTCAA	NONE	.	.	.	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,3_prime_UTR_variant,,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	2979	100	97	SUCCESS
DCTD	1635	.	GRCh37	4	183812473	183812473	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	53	0	ENST00000438320.2:c.*79C>T			ENST00000438320	NM_001921.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34108.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTGTAACT	NONE	.	.	.	.	.	ENSP00000349576	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000357067	Transcript	.	.	ENSG00000129187	2710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCTD_HUMAN	DCTD	HGNC	D6RJA9_HUMAN,D6RC36_HUMAN,D6RBN2_HUMAN,D6RBJ9_HUMAN,D6RAR9_HUMAN,D6RAD7_HUMAN,D6R9S0_HUMAN	.	UPI00004EC28E	SNV	DCTD,3_prime_UTR_variant,,ENST00000438320,;DCTD,3_prime_UTR_variant,,ENST00000357067,;DCTD,downstream_gene_variant,,ENST00000503182,;DCTD,downstream_gene_variant,,ENST00000514754,;DCTD,downstream_gene_variant,,ENST00000510370,;DCTD,downstream_gene_variant,,ENST00000510307,;DCTD,downstream_gene_variant,,ENST00000512766,;DCTD,3_prime_UTR_variant,,ENST00000507631,;DCTD,3_prime_UTR_variant,,ENST00000500813,;DCTD,3_prime_UTR_variant,,ENST00000507543,;	715	53	42	SUCCESS
UGT2A3	79799	.	GRCh37	4	69795408	69795408	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs1560453538	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	22	0	ENST00000251566.4:c.*123C>G			ENST00000251566	NM_024743.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3525.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTAGGCTAT	NONE	.	.	.	.	.	ENSP00000251566	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000251566	Transcript	.	.	ENSG00000135220	28528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD2A3_HUMAN	UGT2A3	HGNC	F5GY78_HUMAN	.	UPI000004E644	SNV	UGT2A3,3_prime_UTR_variant,,ENST00000251566,;UGT2A3,3_prime_UTR_variant,,ENST00000420231,;UGT2A3,3_prime_UTR_variant,,ENST00000503012,;RP11-468N14.09,upstream_gene_variant,,ENST00000511202,;	1738	22	19	SUCCESS
CCDC183	84960	.	GRCh37	9	139702159	139702170	+	3_prime_UTR_variant	3'UTR	DEL	CCTGCTTTGCTA	CCTGCTTTGCTA	-	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	CCTGCTTTGCTA	CCTGCTTTGCTA	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	109	0	ENST00000338005.6:c.*18_*29del			ENST00000338005	NM_001039374.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43906.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCGCTCCCTGCTTTGCTACACAA	NONE	.	.	.	.	.	ENSP00000338013	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000338005	Transcript	.	.	ENSG00000213213	28236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1984_HUMAN	CCDC183	HGNC	.	.	UPI00015E02CD	deletion	CCDC183,3_prime_UTR_variant,,ENST00000338005,;RABL6,upstream_gene_variant,,ENST00000371663,;RABL6,upstream_gene_variant,,ENST00000371671,;RABL6,upstream_gene_variant,,ENST00000357466,;RABL6,upstream_gene_variant,,ENST00000311502,;CCDC183-AS1,intron_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000484858,;CCDC183,downstream_gene_variant,,ENST00000371682,;CCDC183,downstream_gene_variant,,ENST00000496839,;CCDC183,3_prime_UTR_variant,,ENST00000479371,;CCDC183,non_coding_transcript_exon_variant,,ENST00000481601,;CCDC183,non_coding_transcript_exon_variant,,ENST00000430612,;RP11-216L13.19,intron_variant,,ENST00000415992,;RP11-216L13.19,intron_variant,,ENST00000459985,;RP11-216L13.18,intron_variant,,ENST00000471502,;RABL6,upstream_gene_variant,,ENST00000484471,;	1657-1668	109	73	SUCCESS
LHFPL1	340596	.	GRCh37	X	111874536	111874536	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NF-01	TCGA-DD-A4NF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	52	1	ENST00000371968.3:c.*112G>A			ENST00000371968	NM_178175.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14562.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGCAAACA	NONE	.	.	.	.	.	ENSP00000361036	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000371968	Transcript	.	.	ENSG00000182508	6587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHPL1_HUMAN	LHFPL1	HGNC	.	.	UPI00000622AD	SNV	LHFPL1,3_prime_UTR_variant,,ENST00000371968,;LHFPL1,3_prime_UTR_variant,,ENST00000536453,;LHFPL1,non_coding_transcript_exon_variant,,ENST00000478229,;	1015	53	64	SUCCESS
RNU6-1191P	106481555	.	GRCh37	16	81142804	81142804	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs529627344	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	36	137	0				ENST00000516799				0	.	T:0	.	T:0	.	T	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGTAGT	NONE	by1000G	2560	.	T:0	.	.	T:0	.	.	.	.	.	.	.	.	.	rs529627344	.	PASS	ENST00000516799	Transcript	.	T:0.0002	ENSG00000252608	48154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	.	RNU6-1191P	HGNC	.	.	.	SNV	RNU6-1191P,upstream_gene_variant,,ENST00000516799,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534142,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534447,;PKD1L2,synonymous_variant,p.%3D,ENST00000525539,;PKD1L2,synonymous_variant,p.%3D,ENST00000533478,;	.	137	132	SUCCESS
RASSF2	9770	.	GRCh37	20	4764745	4764745	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	23	0	ENST00000379376.2:c.*174T>C			ENST00000379376	NM_170774.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13083.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGATAGGG	NONE	.	.	.	.	.	ENSP00000368710	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000379400	Transcript	.	.	ENSG00000101265	9883	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF2_HUMAN	RASSF2	HGNC	.	.	UPI0000001C0A	SNV	RASSF2,3_prime_UTR_variant,,ENST00000379376,;RASSF2,3_prime_UTR_variant,,ENST00000379400,;RASSF2,non_coding_transcript_exon_variant,,ENST00000478553,;	1351	23	18	SUCCESS
PCBP1	5093	.	GRCh37	2	70316042	70316043	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	81	0	ENST00000303577.5:c.*98dup			ENST00000303577	NM_006196.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1898.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTGTAAGTG	NONE	.	.	.	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	insertion	PCBP1,3_prime_UTR_variant,,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;AC016700.3,downstream_gene_variant,,ENST00000457870,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000596028,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;AC016700.3,downstream_gene_variant,,ENST00000424748,;	1458-1459	81	80	SUCCESS
LRRN1	57633	.	GRCh37	3	3888638	3888638	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs758496456	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	52	0	ENST00000319331.3:c.*162C>T			ENST00000319331	NM_020873.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33685.1	.	RADIA|MUSE	.	CGTATCGCAAG	NONE	.	.	.	.	.	ENSP00000314901	.	2/2	.	.	.	.	.	.	.	.	rs758496456	2/2	PASS	ENST00000319331	Transcript	.	.	ENSG00000175928	20980	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRN1_HUMAN	LRRN1	HGNC	.	.	UPI0000034CB8	SNV	LRRN1,3_prime_UTR_variant,,ENST00000319331,;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;	3074	52	34	SUCCESS
FAM218A	152756	.	GRCh37	4	165879803	165879803	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	59	0	ENST00000513876.2:c.*1155T>C			ENST00000513876	NM_153027.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3807.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGTACTTT	NONE	.	.	.	.	.	ENSP00000427428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000513876	Transcript	.	.	ENSG00000250486	26466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,3_prime_UTR_variant,,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	1704	59	40	SUCCESS
ZNF474	133923	.	GRCh37	5	121488840	121488840	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	93	0	ENST00000296600.4:c.*60C>A			ENST00000296600	NM_207317.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCAATGC	NONE	.	.	.	.	.	ENSP00000296600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000296600	Transcript	.	.	ENSG00000164185	23245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN474_HUMAN	ZNF474	HGNC	D6RFM9_HUMAN,D6RCA7_HUMAN	.	UPI0000160642	SNV	ZNF474,3_prime_UTR_variant,,ENST00000296600,;ZNF474,downstream_gene_variant,,ENST00000505843,;ZNF474,downstream_gene_variant,,ENST00000504912,;CTC-441N14.2,intron_variant,,ENST00000504829,;CTC-441N14.1,downstream_gene_variant,,ENST00000505209,;ZNF474,intron_variant,,ENST00000514925,;CTC-441N14.4,upstream_gene_variant,,ENST00000515596,;	1538	93	55	SUCCESS
FOXI1	2299	.	GRCh37	5	169535659	169535659	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	112	0	ENST00000306268.6:c.*44A>G			ENST00000306268				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4372.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGCAGT	NONE	.	.	.	.	.	ENSP00000304286	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306268	Transcript	1	.	ENSG00000168269	3815	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXI1_HUMAN	FOXI1	HGNC	E0XEN6_HUMAN	.	UPI000013EB16	SNV	FOXI1,3_prime_UTR_variant,,ENST00000449804,;FOXI1,3_prime_UTR_variant,,ENST00000306268,;	1242	112	117	SUCCESS
FOXE1	2304	.	GRCh37	9	100618846	100618846	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	70	0	ENST00000375123.3:c.*1528G>T			ENST00000375123	NM_004473.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35078.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGGACTGC	NONE	.	.	.	.	.	ENSP00000364265	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375123	Transcript	.	.	ENSG00000178919	3806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXE1_HUMAN	FOXE1	HGNC	.	.	UPI0000167B2F	SNV	FOXE1,3_prime_UTR_variant,,ENST00000375123,;	3311	70	61	SUCCESS
RNU6-1191P	106481555	.	GRCh37	16	81142804	81142804	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs529627344	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	36	190	0				ENST00000516799				0	.	T:0	.	T:0	.	T	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCGTAGT	NONE	by1000G	2560	.	T:0	.	.	T:0	.	.	.	.	.	.	.	.	.	rs529627344	.	nonpreferredpair	ENST00000516799	Transcript	.	T:0.0002	ENSG00000252608	48154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	.	RNU6-1191P	HGNC	.	.	.	SNV	RNU6-1191P,upstream_gene_variant,,ENST00000516799,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534142,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534447,;PKD1L2,synonymous_variant,p.%3D,ENST00000525539,;PKD1L2,synonymous_variant,p.%3D,ENST00000533478,;	.	190	132	SUCCESS
RASSF2	9770	.	GRCh37	20	4764745	4764745	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	14	0	ENST00000379376.2:c.*174T>C			ENST00000379376	NM_170774.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13083.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGATAGGG	NONE	.	.	.	.	.	ENSP00000368710	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000379400	Transcript	.	.	ENSG00000101265	9883	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASF2_HUMAN	RASSF2	HGNC	.	.	UPI0000001C0A	SNV	RASSF2,3_prime_UTR_variant,,ENST00000379376,;RASSF2,3_prime_UTR_variant,,ENST00000379400,;RASSF2,non_coding_transcript_exon_variant,,ENST00000478553,;	1351	14	18	SUCCESS
PCBP1	5093	.	GRCh37	2	70316042	70316043	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	63	17	92	0	ENST00000303577.5:c.*98dup			ENST00000303577	NM_006196.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1898.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTTGTAAGTG	NONE	.	.	.	.	.	ENSP00000305556	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000303577	Transcript	.	.	ENSG00000169564	8647	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCBP1_HUMAN	PCBP1	HGNC	Q53SS8_HUMAN	.	UPI000000029F	insertion	PCBP1,3_prime_UTR_variant,,ENST00000303577,;AC016700.2,upstream_gene_variant,,ENST00000455541,;AC016700.3,downstream_gene_variant,,ENST00000457870,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000596028,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;AC016700.3,downstream_gene_variant,,ENST00000424748,;	1458-1459	92	80	SUCCESS
LRRN1	57633	.	GRCh37	3	3888638	3888638	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs758496456	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	60	0	ENST00000319331.3:c.*162C>T			ENST00000319331	NM_020873.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33685.1	.	RADIA|MUSE	.	CGTATCGCAAG	NONE	.	.	.	.	.	ENSP00000314901	.	2/2	.	.	.	.	.	.	.	.	rs758496456	2/2	nonpreferredpair	ENST00000319331	Transcript	.	.	ENSG00000175928	20980	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRN1_HUMAN	LRRN1	HGNC	.	.	UPI0000034CB8	SNV	LRRN1,3_prime_UTR_variant,,ENST00000319331,;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;	3074	60	34	SUCCESS
FAM218A	152756	.	GRCh37	4	165879803	165879803	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	14	75	0	ENST00000513876.2:c.*1155T>C			ENST00000513876	NM_153027.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3807.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGTACTTT	NONE	.	.	.	.	.	ENSP00000427428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000513876	Transcript	.	.	ENSG00000250486	26466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,3_prime_UTR_variant,,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	1704	75	40	SUCCESS
ZNF474	133923	.	GRCh37	5	121488840	121488840	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	99	0	ENST00000296600.4:c.*60C>A			ENST00000296600	NM_207317.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTATCAATGC	NONE	.	.	.	.	.	ENSP00000296600	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000296600	Transcript	.	.	ENSG00000164185	23245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN474_HUMAN	ZNF474	HGNC	D6RFM9_HUMAN,D6RCA7_HUMAN	.	UPI0000160642	SNV	ZNF474,3_prime_UTR_variant,,ENST00000296600,;ZNF474,downstream_gene_variant,,ENST00000505843,;ZNF474,downstream_gene_variant,,ENST00000504912,;CTC-441N14.2,intron_variant,,ENST00000504829,;CTC-441N14.1,downstream_gene_variant,,ENST00000505209,;ZNF474,intron_variant,,ENST00000514925,;CTC-441N14.4,upstream_gene_variant,,ENST00000515596,;	1538	99	55	SUCCESS
FOXI1	2299	.	GRCh37	5	169535659	169535659	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	45	120	0	ENST00000306268.6:c.*44A>G			ENST00000306268				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4372.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAAAGCAGT	NONE	.	.	.	.	.	ENSP00000304286	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000306268	Transcript	1	.	ENSG00000168269	3815	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXI1_HUMAN	FOXI1	HGNC	E0XEN6_HUMAN	.	UPI000013EB16	SNV	FOXI1,3_prime_UTR_variant,,ENST00000449804,;FOXI1,3_prime_UTR_variant,,ENST00000306268,;	1242	120	117	SUCCESS
FOXE1	2304	.	GRCh37	9	100618846	100618846	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NG-01	TCGA-DD-A4NG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	49	0	ENST00000375123.3:c.*1528G>T			ENST00000375123	NM_004473.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35078.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGGACTGC	NONE	.	.	.	.	.	ENSP00000364265	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000375123	Transcript	.	.	ENSG00000178919	3806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXE1_HUMAN	FOXE1	HGNC	.	.	UPI0000167B2F	SNV	FOXE1,3_prime_UTR_variant,,ENST00000375123,;	3311	49	61	SUCCESS
BLOC1S2	282991	.	GRCh37	10	102035202	102035202	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs760783037	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	28	0	ENST00000370372.2:c.*17G>T			ENST00000370372	NM_173809.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCATAG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000359398	.	5/5	.	.	.	.	.	.	.	.	rs760783037	5/5	PASS	ENST00000370372	Transcript	.	.	ENSG00000196072	20984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S2_HUMAN	BLOC1S2	HGNC	F1T0F0_HUMAN	.	UPI00000358DA	SNV	BLOC1S2,3_prime_UTR_variant,,ENST00000441611,;BLOC1S2,3_prime_UTR_variant,,ENST00000370372,;BLOC1S2,downstream_gene_variant,,ENST00000579542,;	499	28	39	SUCCESS
BLOC1S2	282991	.	GRCh37	10	102035203	102035203	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	29	0	ENST00000370372.2:c.*16G>T			ENST00000370372	NM_173809.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7490.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCCATAGA	NONE	.	.	.	.	.	ENSP00000359398	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370372	Transcript	.	.	ENSG00000196072	20984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S2_HUMAN	BLOC1S2	HGNC	F1T0F0_HUMAN	.	UPI00000358DA	SNV	BLOC1S2,3_prime_UTR_variant,,ENST00000441611,;BLOC1S2,3_prime_UTR_variant,,ENST00000370372,;BLOC1S2,downstream_gene_variant,,ENST00000579542,;	498	29	39	SUCCESS
MPHOSPH8	54737	.	GRCh37	13	20246036	20246037	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	37	0	ENST00000361479.5:c.*21_*22insA			ENST00000361479	NM_017520.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9287.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCGGAGTT	NONE	.	.	.	.	.	ENSP00000355388	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000361479	Transcript	.	.	ENSG00000196199	29810	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPP8_HUMAN	MPHOSPH8	HGNC	.	.	UPI0000051C18	insertion	MPHOSPH8,3_prime_UTR_variant,,ENST00000361479,;MPHOSPH8,3_prime_UTR_variant,,ENST00000449056,;MPHOSPH8,downstream_gene_variant,,ENST00000414242,;RP11-523H24.3,upstream_gene_variant,,ENST00000423023,;MPHOSPH8,non_coding_transcript_exon_variant,,ENST00000496525,;PSPC1,downstream_gene_variant,,ENST00000497722,;PSPC1,downstream_gene_variant,,ENST00000471658,;PSPC1,downstream_gene_variant,,ENST00000492741,;AL354808.1,downstream_gene_variant,,ENST00000542012,;	2672-2673	37	59	SUCCESS
RAB7L1	0	.	GRCh37	1	205739399	205739399	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	27	0	ENST00000235932.4:c.*71G>T			ENST00000235932	NM_001135662.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1459.1	.	MUTECT|MUSE	.	ATTGTCAGGTG	NONE	.	.	.	.	.	ENSP00000356107	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000367139	Transcript	.	.	ENSG00000117280	9789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB7L_HUMAN	RAB7L1	HGNC	Q6FGU7_HUMAN,E9PL56_HUMAN	.	UPI0000133181	SNV	RAB7L1,3_prime_UTR_variant,,ENST00000367139,;RAB7L1,3_prime_UTR_variant,,ENST00000446390,;RAB7L1,3_prime_UTR_variant,,ENST00000437324,;RAB7L1,3_prime_UTR_variant,,ENST00000235932,;RAB7L1,downstream_gene_variant,,ENST00000414729,;RAB7L1,non_coding_transcript_exon_variant,,ENST00000468887,;RAB7L1,downstream_gene_variant,,ENST00000533111,;RAB7L1,3_prime_UTR_variant,,ENST00000528078,;RAB7L1,downstream_gene_variant,,ENST00000492534,;	987	27	48	SUCCESS
BLOC1S2	282991	.	GRCh37	10	102035202	102035202	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs760783037	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	29	0	ENST00000370372.2:c.*17G>T			ENST00000370372	NM_173809.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCCCATAG	NONE	byFrequency|byCluster	.	.	.	.	ENSP00000359398	.	5/5	.	.	.	.	.	.	.	.	rs760783037	5/5	nonpreferredpair	ENST00000370372	Transcript	.	.	ENSG00000196072	20984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S2_HUMAN	BLOC1S2	HGNC	F1T0F0_HUMAN	.	UPI00000358DA	SNV	BLOC1S2,3_prime_UTR_variant,,ENST00000441611,;BLOC1S2,3_prime_UTR_variant,,ENST00000370372,;BLOC1S2,downstream_gene_variant,,ENST00000579542,;	499	29	39	SUCCESS
BLOC1S2	282991	.	GRCh37	10	102035203	102035203	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	29	0	ENST00000370372.2:c.*16G>T			ENST00000370372	NM_173809.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCCCATAGA	NONE	.	.	.	.	.	ENSP00000359398	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000370372	Transcript	.	.	ENSG00000196072	20984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S2_HUMAN	BLOC1S2	HGNC	F1T0F0_HUMAN	.	UPI00000358DA	SNV	BLOC1S2,3_prime_UTR_variant,,ENST00000441611,;BLOC1S2,3_prime_UTR_variant,,ENST00000370372,;BLOC1S2,downstream_gene_variant,,ENST00000579542,;	498	29	39	SUCCESS
MPHOSPH8	54737	.	GRCh37	13	20246036	20246037	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	71	0	ENST00000361479.5:c.*21_*22insA			ENST00000361479	NM_017520.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9287.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCGGAGTT	NONE	.	.	.	.	.	ENSP00000355388	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000361479	Transcript	.	.	ENSG00000196199	29810	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPP8_HUMAN	MPHOSPH8	HGNC	.	.	UPI0000051C18	insertion	MPHOSPH8,3_prime_UTR_variant,,ENST00000361479,;MPHOSPH8,3_prime_UTR_variant,,ENST00000449056,;MPHOSPH8,downstream_gene_variant,,ENST00000414242,;RP11-523H24.3,upstream_gene_variant,,ENST00000423023,;MPHOSPH8,non_coding_transcript_exon_variant,,ENST00000496525,;PSPC1,downstream_gene_variant,,ENST00000497722,;PSPC1,downstream_gene_variant,,ENST00000471658,;PSPC1,downstream_gene_variant,,ENST00000492741,;AL354808.1,downstream_gene_variant,,ENST00000542012,;	2672-2673	71	59	SUCCESS
RAB7L1	0	.	GRCh37	1	205739399	205739399	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NH-01	TCGA-DD-A4NH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	23	0	ENST00000235932.4:c.*71G>T			ENST00000235932	NM_001135662.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1459.1	.	MUTECT|MUSE	.	ATTGTCAGGTG	NONE	.	.	.	.	.	ENSP00000356107	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000367139	Transcript	.	.	ENSG00000117280	9789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB7L_HUMAN	RAB7L1	HGNC	Q6FGU7_HUMAN,E9PL56_HUMAN	.	UPI0000133181	SNV	RAB7L1,3_prime_UTR_variant,,ENST00000367139,;RAB7L1,3_prime_UTR_variant,,ENST00000446390,;RAB7L1,3_prime_UTR_variant,,ENST00000437324,;RAB7L1,3_prime_UTR_variant,,ENST00000235932,;RAB7L1,downstream_gene_variant,,ENST00000414729,;RAB7L1,non_coding_transcript_exon_variant,,ENST00000468887,;RAB7L1,downstream_gene_variant,,ENST00000533111,;RAB7L1,3_prime_UTR_variant,,ENST00000528078,;RAB7L1,downstream_gene_variant,,ENST00000492534,;	987	23	48	SUCCESS
ZNF511	118472	.	GRCh37	10	135126248	135126248	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	82	0	ENST00000359035.3:c.*794G>T			ENST00000359035				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7677.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGGTTGG	NONE	.	.	.	.	.	ENSP00000355251	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361518	Transcript	.	.	ENSG00000198546	28445	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN511_HUMAN	ZNF511	HGNC	.	.	UPI000006FF8A	SNV	ZNF511,3_prime_UTR_variant,,ENST00000359035,;ZNF511,intron_variant,,ENST00000361518,;ZNF511,intron_variant,,ENST00000368554,;TUBGCP2,upstream_gene_variant,,ENST00000417178,;TUBGCP2,upstream_gene_variant,,ENST00000368563,;ZNF511,intron_variant,,ENST00000463816,;TUBGCP2,upstream_gene_variant,,ENST00000470829,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;ZNF511,downstream_gene_variant,,ENST00000482153,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;TUBGCP2,upstream_gene_variant,,ENST00000482278,;	.	82	87	SUCCESS
ZNF511	118472	.	GRCh37	10	135126249	135126249	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	85	0	ENST00000359035.3:c.*795G>T			ENST00000359035				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7677.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGTTGGC	NONE	.	.	.	.	.	ENSP00000355251	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000361518	Transcript	.	.	ENSG00000198546	28445	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN511_HUMAN	ZNF511	HGNC	.	.	UPI000006FF8A	SNV	ZNF511,3_prime_UTR_variant,,ENST00000359035,;ZNF511,intron_variant,,ENST00000361518,;ZNF511,intron_variant,,ENST00000368554,;TUBGCP2,upstream_gene_variant,,ENST00000417178,;TUBGCP2,upstream_gene_variant,,ENST00000368563,;ZNF511,intron_variant,,ENST00000463816,;TUBGCP2,upstream_gene_variant,,ENST00000470829,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;ZNF511,downstream_gene_variant,,ENST00000482153,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;TUBGCP2,upstream_gene_variant,,ENST00000482278,;	.	85	90	SUCCESS
RAG1	5896	.	GRCh37	11	36599321	36599321	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	33	0	ENST00000299440.5:c.*1335T>G			ENST00000299440	NM_000448.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7902.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTTCTTT	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	4579	34	47	SUCCESS
TSPAN18	90139	.	GRCh37	11	44952502	44952502	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs768001614	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	56	0	ENST00000340160.3:c.*1773C>T			ENST00000340160	NM_130783.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7910.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTCGGAGC	NONE	byFrequency	.	.	.	.	ENSP00000339820	.	9/9	.	.	.	.	.	.	.	.	rs768001614	9/9	PASS	ENST00000340160	Transcript	.	.	ENSG00000157570	20660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN18_HUMAN	TSPAN18	HGNC	E9PPB7_HUMAN	.	UPI000004A4F4	SNV	TSPAN18,synonymous_variant,p.%3D,ENST00000518429,;TSPAN18,3_prime_UTR_variant,,ENST00000340160,;TSPAN18,3_prime_UTR_variant,,ENST00000520358,;TP53I11,downstream_gene_variant,,ENST00000528473,;TP53I11,downstream_gene_variant,,ENST00000528290,;TP53I11,downstream_gene_variant,,ENST00000533940,;TP53I11,downstream_gene_variant,,ENST00000395648,;TP53I11,downstream_gene_variant,,ENST00000525680,;TP53I11,downstream_gene_variant,,ENST00000308212,;TP53I11,downstream_gene_variant,,ENST00000531130,;TP53I11,downstream_gene_variant,,ENST00000533955,;TP53I11,intron_variant,,ENST00000354556,;TSPAN18,downstream_gene_variant,,ENST00000520245,;TP53I11,downstream_gene_variant,,ENST00000532253,;TSPAN18,downstream_gene_variant,,ENST00000521990,;TSPAN18,downstream_gene_variant,,ENST00000517621,;TP53I11,downstream_gene_variant,,ENST00000524774,;TSPAN18,downstream_gene_variant,,ENST00000520278,;	2759	56	56	SUCCESS
FOXN4	121643	.	GRCh37	12	109717355	109717355	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs182558917	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	20	0	ENST00000299162.5:c.*121C>T			ENST00000299162	NM_213596.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS9126.2	.	MUTECT|MUSE	.	ACTTCGCCACA	NONE	by1000G	.	.	A:0	.	ENSP00000299162	A:0	10/10	.	.	.	.	.	.	.	.	rs182558917	10/10	PASS	ENST00000299162	Transcript	.	A:0.0002	ENSG00000139445	21399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	FOXN4_HUMAN	FOXN4	HGNC	.	.	UPI0000551BEE	SNV	FOXN4,3_prime_UTR_variant,,ENST00000355216,;FOXN4,3_prime_UTR_variant,,ENST00000299162,;FOXN4,intron_variant,,ENST00000468516,;FOXN4,downstream_gene_variant,,ENST00000423960,;	1780	20	10	SUCCESS
RBMS2	5939	.	GRCh37	12	56982944	56982944	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	25	0	ENST00000262031.5:c.*27C>A			ENST00000262031	NM_002898.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8923.1	.	MUTECT|MUSE	.	CTTTACTGAAT	NONE	.	.	.	.	.	ENSP00000262031	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000262031	Transcript	.	.	ENSG00000076067	9909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBMS2_HUMAN	RBMS2	HGNC	F8VV01_HUMAN	.	UPI000006EEB0	SNV	RBMS2,3_prime_UTR_variant,,ENST00000552247,;RBMS2,3_prime_UTR_variant,,ENST00000550726,;RBMS2,3_prime_UTR_variant,,ENST00000262031,;RBMS2,3_prime_UTR_variant,,ENST00000542360,;RNU6-343P,downstream_gene_variant,,ENST00000364709,;RBMS2,3_prime_UTR_variant,,ENST00000552916,;	1346	25	19	SUCCESS
RBP5	83758	.	GRCh37	12	7276678	7276678	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	42	0	ENST00000266560.3:c.*39C>T			ENST00000266560	NM_031491.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8574.1	.	MUTECT|MUSE	.	TCTGTGAGCTG	NONE	.	.	.	.	.	ENSP00000266560	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000266560	Transcript	.	.	ENSG00000139194	15847	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RET5_HUMAN	RBP5	HGNC	.	.	UPI000013D6F8	SNV	RBP5,3_prime_UTR_variant,,ENST00000266560,;RBP5,downstream_gene_variant,,ENST00000542370,;C1RL-AS1,downstream_gene_variant,,ENST00000545775,;C1RL-AS1,downstream_gene_variant,,ENST00000382215,;C1RL-AS1,downstream_gene_variant,,ENST00000535078,;C1RL-AS1,downstream_gene_variant,,ENST00000541775,;RP11-273B20.1,downstream_gene_variant,,ENST00000544657,;RBP5,non_coding_transcript_exon_variant,,ENST00000542784,;RBP5,downstream_gene_variant,,ENST00000543045,;	614	42	63	SUCCESS
ATP12A	479	.	GRCh37	13	25285794	25285794	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs191180275	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	18	0	ENST00000381946.3:c.*134G>A			ENST00000381946				0	.	T:0.003	.	T:0	.	A	.	protein_coding	YES	CCDS53858.1	.	MUTECT|MUSE	.	AGAAAGCTGTA	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000218548	T:0	23/23	.	.	.	.	.	.	.	.	rs191180275	23/23	PASS	ENST00000218548	Transcript	.	T:0.0008	ENSG00000075673	13816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,3_prime_UTR_variant,,ENST00000218548,;ATP12A,3_prime_UTR_variant,,ENST00000381946,;	3605	18	29	SUCCESS
GANC	2595	.	GRCh37	15	42646624	42646624	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	95	161	0				ENST00000318010	NM_198141.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10084.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTAAAAAC	NONE	.	760	.	.	.	ENSP00000326227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000318010	Transcript	.	.	ENSG00000214013	4139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GANC_HUMAN	GANC	HGNC	H3BUE8_HUMAN,H3BPX5_HUMAN,H3BMW3_HUMAN,H3BMM3_HUMAN	.	UPI00001FE303	SNV	CAPN3,synonymous_variant,p.%3D,ENST00000356316,;GANC,downstream_gene_variant,,ENST00000318010,;GANC,downstream_gene_variant,,ENST00000567596,;GANC,downstream_gene_variant,,ENST00000566690,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000549793,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000466369,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000483208,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000495723,;	.	161	253	SUCCESS
RTBDN	83546	.	GRCh37	19	12936845	12936845	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	16	0	ENST00000393233.2:c.*299C>T			ENST00000393233	NM_001270440.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12283.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTGGGGTC	NONE	.	.	.	.	.	ENSP00000326253	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322912	Transcript	.	.	ENSG00000132026	30310	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTBDN_HUMAN	RTBDN	HGNC	K7EN64_HUMAN,K7EKV3_HUMAN,K7EIS2_HUMAN	.	UPI000006D823	SNV	RTBDN,3_prime_UTR_variant,,ENST00000393233,;RTBDN,3_prime_UTR_variant,,ENST00000589272,;RTBDN,intron_variant,,ENST00000586969,;RTBDN,intron_variant,,ENST00000589681,;RTBDN,intron_variant,,ENST00000322912,;RTBDN,intron_variant,,ENST00000458671,;RTBDN,intron_variant,,ENST00000589808,;RTBDN,intron_variant,,ENST00000592204,;RTBDN,intron_variant,,ENST00000590404,;RTBDN,downstream_gene_variant,,ENST00000585384,;RTBDN,downstream_gene_variant,,ENST00000587549,;RTBDN,downstream_gene_variant,,ENST00000591512,;RTBDN,downstream_gene_variant,,ENST00000589567,;CTD-2265O21.3,intron_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;	.	16	30	SUCCESS
SLAMF8	56833	.	GRCh37	1	159805254	159805254	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	12	0	ENST00000289707.5:c.*204C>A			ENST00000289707	NM_020125.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1188.1	.	MUTECT|MUSE	.	TCCCTCTCCCA	NONE	.	.	.	.	.	ENSP00000289707	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000289707	Transcript	.	.	ENSG00000158714	21391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAF8_HUMAN	SLAMF8	HGNC	.	.	UPI000003E841	SNV	SLAMF8,3_prime_UTR_variant,,ENST00000368104,;SLAMF8,3_prime_UTR_variant,,ENST00000289707,;C1orf204,3_prime_UTR_variant,,ENST00000368102,;C1orf204,non_coding_transcript_exon_variant,,ENST00000491974,;SLAMF8,intron_variant,,ENST00000471286,;SLAMF8,intron_variant,,ENST00000497141,;	1211	12	18	SUCCESS
TMEM191C	645426	.	GRCh37	22	21829504	21829504	+	downstream_gene_variant	3'Flank	SNP	A	A	C	rs756989739	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	92	277	1				ENST00000449424				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	CTTCAAGAGCT	NONE	byFrequency	3946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756989739	.	PASS	ENST00000449424	Transcript	.	.	ENSG00000206140	33601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TMEM191C	HGNC	.	.	.	SNV	TMEM191C,downstream_gene_variant,,ENST00000536718,;TMEM191C,downstream_gene_variant,,ENST00000449424,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000450651,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000470274,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000494740,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000477296,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000486209,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000463608,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000462560,;PI4KAP2,downstream_gene_variant,,ENST00000480319,;PI4KAP2,downstream_gene_variant,,ENST00000479693,;PI4KAP2,downstream_gene_variant,,ENST00000467443,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000546263,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000360806,;	.	279	300	SUCCESS
ZNF660	285349	.	GRCh37	3	44637129	44637129	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	25	0	ENST00000322734.2:c.*448T>C			ENST00000322734	NM_173658.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2716.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGCTTTCTA	NONE	.	.	.	.	.	ENSP00000324605	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000322734	Transcript	.	.	ENSG00000144792	26720	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN660_HUMAN	ZNF660	HGNC	C9J3N9_HUMAN,C9J3D4_HUMAN	.	UPI0000140EF2	SNV	ZNF660,3_prime_UTR_variant,,ENST00000322734,;ZNF197,intron_variant,,ENST00000412641,;ZNF660,downstream_gene_variant,,ENST00000441021,;ZNF660,downstream_gene_variant,,ENST00000416644,;RP11-944L7.5,downstream_gene_variant,,ENST00000419137,;RP11-944L7.4,intron_variant,,ENST00000457331,;	1777	25	33	SUCCESS
PPM1M	132160	.	GRCh37	3	52283840	52283840	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	75	0	ENST00000296487.4:c.*441C>A			ENST00000296487				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46840.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGACACTGT	NONE	.	.	.	.	.	ENSP00000387046	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000409502	Transcript	.	.	ENSG00000164088	26506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPM1M_HUMAN	PPM1M	HGNC	.	.	UPI000006FA2C	SNV	PPM1M,3_prime_UTR_variant,,ENST00000323588,;PPM1M,3_prime_UTR_variant,,ENST00000296487,;PPM1M,3_prime_UTR_variant,,ENST00000409502,;WDR82,downstream_gene_variant,,ENST00000296490,;PPM1M,downstream_gene_variant,,ENST00000457351,;PPM1M,downstream_gene_variant,,ENST00000457454,;PPM1M,downstream_gene_variant,,ENST00000443681,;PPM1M,non_coding_transcript_exon_variant,,ENST00000482724,;PPM1M,non_coding_transcript_exon_variant,,ENST00000467471,;PPM1M,non_coding_transcript_exon_variant,,ENST00000489606,;PPM1M,downstream_gene_variant,,ENST00000472955,;	1017	75	76	SUCCESS
PCDHB7	56129	.	GRCh37	5	140554893	140554893	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	41	171	0	ENST00000231137.3:c.*95A>T			ENST00000231137	NM_018940.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4249.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAAATATG	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	2651	171	249	SUCCESS
FUT9	10690	.	GRCh37	6	96663020	96663020	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	36	0	ENST00000302103.5:c.*10909G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCAGCTAAG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	12315	36	68	SUCCESS
MIOS	54468	.	GRCh37	7	7646782	7646782	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	18	0	ENST00000340080.4:c.*59T>A			ENST00000340080	NM_019005.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43554.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCATAGCTC	NONE	.	.	.	.	.	ENSP00000339881	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000340080	Transcript	.	.	ENSG00000164654	21905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIO_HUMAN	MIOS	HGNC	C9JUE6_HUMAN,C9JTV2_HUMAN,C9JAQ1_HUMAN	.	UPI000020EB0B	SNV	MIOS,3_prime_UTR_variant,,ENST00000405785,;MIOS,3_prime_UTR_variant,,ENST00000340080,;MIOS,non_coding_transcript_exon_variant,,ENST00000479694,;MIOS,non_coding_transcript_exon_variant,,ENST00000493227,;	3108	18	40	SUCCESS
XKR4	114786	.	GRCh37	8	56436936	56436936	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	10	0	ENST00000327381.6:c.*150G>A			ENST00000327381	NM_052898.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34893.1	.	MUTECT|MUSE	.	CGGCTGGGGGC	NONE	.	.	.	.	.	ENSP00000328326	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,3_prime_UTR_variant,,ENST00000327381,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	2203	10	14	SUCCESS
TOR4A	54863	.	GRCh37	9	140174921	140174921	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	110	0	ENST00000357503.2:c.*508T>C			ENST00000357503	NM_017723.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7041.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCGTGTTTT	NONE	.	.	.	.	.	ENSP00000350102	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357503	Transcript	.	.	ENSG00000198113	25981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOR4A_HUMAN	TOR4A	HGNC	.	.	UPI00004577EC	SNV	TOR4A,3_prime_UTR_variant,,ENST00000357503,;	1976	110	117	SUCCESS
ZNF511	118472	.	GRCh37	10	135126248	135126248	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	12	100	0	ENST00000359035.3:c.*794G>T			ENST00000359035				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7677.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTGGTTGG	NONE	.	.	.	.	.	ENSP00000355251	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000361518	Transcript	.	.	ENSG00000198546	28445	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN511_HUMAN	ZNF511	HGNC	.	.	UPI000006FF8A	SNV	ZNF511,3_prime_UTR_variant,,ENST00000359035,;ZNF511,intron_variant,,ENST00000361518,;ZNF511,intron_variant,,ENST00000368554,;TUBGCP2,upstream_gene_variant,,ENST00000417178,;TUBGCP2,upstream_gene_variant,,ENST00000368563,;ZNF511,intron_variant,,ENST00000463816,;TUBGCP2,upstream_gene_variant,,ENST00000470829,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;ZNF511,downstream_gene_variant,,ENST00000482153,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;TUBGCP2,upstream_gene_variant,,ENST00000482278,;	.	100	87	SUCCESS
ZNF511	118472	.	GRCh37	10	135126249	135126249	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	14	103	0	ENST00000359035.3:c.*795G>T			ENST00000359035				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7677.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTGGTTGGC	NONE	.	.	.	.	.	ENSP00000355251	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000361518	Transcript	.	.	ENSG00000198546	28445	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN511_HUMAN	ZNF511	HGNC	.	.	UPI000006FF8A	SNV	ZNF511,3_prime_UTR_variant,,ENST00000359035,;ZNF511,intron_variant,,ENST00000361518,;ZNF511,intron_variant,,ENST00000368554,;TUBGCP2,upstream_gene_variant,,ENST00000417178,;TUBGCP2,upstream_gene_variant,,ENST00000368563,;ZNF511,intron_variant,,ENST00000463816,;TUBGCP2,upstream_gene_variant,,ENST00000470829,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;ZNF511,downstream_gene_variant,,ENST00000482153,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;TUBGCP2,upstream_gene_variant,,ENST00000482278,;	.	103	90	SUCCESS
RAG1	5896	.	GRCh37	11	36599321	36599321	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	17	27	0	ENST00000299440.5:c.*1335T>G			ENST00000299440	NM_000448.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7902.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTTCTTCTTT	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	4579	27	46	SUCCESS
TSPAN18	90139	.	GRCh37	11	44952502	44952502	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs768001614	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	49	0	ENST00000340160.3:c.*1773C>T			ENST00000340160	NM_130783.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7910.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCGGAGC	NONE	byFrequency	.	.	.	.	ENSP00000339820	.	9/9	.	.	.	.	.	.	.	.	rs768001614	9/9	nonpreferredpair	ENST00000340160	Transcript	.	.	ENSG00000157570	20660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN18_HUMAN	TSPAN18	HGNC	E9PPB7_HUMAN	.	UPI000004A4F4	SNV	TSPAN18,synonymous_variant,p.%3D,ENST00000518429,;TSPAN18,3_prime_UTR_variant,,ENST00000340160,;TSPAN18,3_prime_UTR_variant,,ENST00000520358,;TP53I11,downstream_gene_variant,,ENST00000528473,;TP53I11,downstream_gene_variant,,ENST00000528290,;TP53I11,downstream_gene_variant,,ENST00000533940,;TP53I11,downstream_gene_variant,,ENST00000395648,;TP53I11,downstream_gene_variant,,ENST00000525680,;TP53I11,downstream_gene_variant,,ENST00000308212,;TP53I11,downstream_gene_variant,,ENST00000531130,;TP53I11,downstream_gene_variant,,ENST00000533955,;TP53I11,intron_variant,,ENST00000354556,;TSPAN18,downstream_gene_variant,,ENST00000520245,;TP53I11,downstream_gene_variant,,ENST00000532253,;TSPAN18,downstream_gene_variant,,ENST00000521990,;TSPAN18,downstream_gene_variant,,ENST00000517621,;TP53I11,downstream_gene_variant,,ENST00000524774,;TSPAN18,downstream_gene_variant,,ENST00000520278,;	2759	49	56	SUCCESS
FOXN4	121643	.	GRCh37	12	109717355	109717355	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs182558917	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	13	0	ENST00000299162.5:c.*121C>T			ENST00000299162	NM_213596.2			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS9126.2	.	MUTECT|MUSE	.	ACTTCGCCACA	NONE	by1000G	.	.	A:0	.	ENSP00000299162	A:0	10/10	.	.	.	.	.	.	.	.	rs182558917	10/10	nonpreferredpair	ENST00000299162	Transcript	.	A:0.0002	ENSG00000139445	21399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	FOXN4_HUMAN	FOXN4	HGNC	.	.	UPI0000551BEE	SNV	FOXN4,3_prime_UTR_variant,,ENST00000355216,;FOXN4,3_prime_UTR_variant,,ENST00000299162,;FOXN4,intron_variant,,ENST00000468516,;FOXN4,downstream_gene_variant,,ENST00000423960,;	1780	13	10	SUCCESS
RBMS2	5939	.	GRCh37	12	56982944	56982944	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	15	0	ENST00000262031.5:c.*27C>A			ENST00000262031	NM_002898.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8923.1	.	MUTECT|MUSE	.	CTTTACTGAAT	NONE	.	.	.	.	.	ENSP00000262031	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000262031	Transcript	.	.	ENSG00000076067	9909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBMS2_HUMAN	RBMS2	HGNC	F8VV01_HUMAN	.	UPI000006EEB0	SNV	RBMS2,3_prime_UTR_variant,,ENST00000552247,;RBMS2,3_prime_UTR_variant,,ENST00000550726,;RBMS2,3_prime_UTR_variant,,ENST00000262031,;RBMS2,3_prime_UTR_variant,,ENST00000542360,;RNU6-343P,downstream_gene_variant,,ENST00000364709,;RBMS2,3_prime_UTR_variant,,ENST00000552916,;	1346	15	19	SUCCESS
RBP5	83758	.	GRCh37	12	7276678	7276678	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	4	48	0	ENST00000266560.3:c.*39C>T			ENST00000266560	NM_031491.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8574.1	.	MUTECT|MUSE	.	TCTGTGAGCTG	NONE	.	.	.	.	.	ENSP00000266560	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000266560	Transcript	.	.	ENSG00000139194	15847	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RET5_HUMAN	RBP5	HGNC	.	.	UPI000013D6F8	SNV	RBP5,3_prime_UTR_variant,,ENST00000266560,;RBP5,downstream_gene_variant,,ENST00000542370,;C1RL-AS1,downstream_gene_variant,,ENST00000545775,;C1RL-AS1,downstream_gene_variant,,ENST00000382215,;C1RL-AS1,downstream_gene_variant,,ENST00000535078,;C1RL-AS1,downstream_gene_variant,,ENST00000541775,;RP11-273B20.1,downstream_gene_variant,,ENST00000544657,;RBP5,non_coding_transcript_exon_variant,,ENST00000542784,;RBP5,downstream_gene_variant,,ENST00000543045,;	614	48	63	SUCCESS
ATP12A	479	.	GRCh37	13	25285794	25285794	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs191180275	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	11	0	ENST00000381946.3:c.*134G>A			ENST00000381946				0	.	T:0.003	.	T:0	.	A	.	protein_coding	YES	CCDS53858.1	.	MUTECT|MUSE	.	AGAAAGCTGTA	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000218548	T:0	23/23	.	.	.	.	.	.	.	.	rs191180275	23/23	nonpreferredpair	ENST00000218548	Transcript	.	T:0.0008	ENSG00000075673	13816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	AT12A_HUMAN	ATP12A	HGNC	.	.	UPI000006D1DE	SNV	ATP12A,3_prime_UTR_variant,,ENST00000218548,;ATP12A,3_prime_UTR_variant,,ENST00000381946,;	3605	11	29	SUCCESS
GANC	2595	.	GRCh37	15	42646624	42646624	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	95	181	0				ENST00000318010	NM_198141.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10084.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTTAAAAAC	NONE	.	760	.	.	.	ENSP00000326227	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000318010	Transcript	.	.	ENSG00000214013	4139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GANC_HUMAN	GANC	HGNC	H3BUE8_HUMAN,H3BPX5_HUMAN,H3BMW3_HUMAN,H3BMM3_HUMAN	.	UPI00001FE303	SNV	CAPN3,synonymous_variant,p.%3D,ENST00000356316,;GANC,downstream_gene_variant,,ENST00000318010,;GANC,downstream_gene_variant,,ENST00000567596,;GANC,downstream_gene_variant,,ENST00000566690,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000549793,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000466369,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000483208,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000495723,;	.	181	253	SUCCESS
RTBDN	83546	.	GRCh37	19	12936845	12936845	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	22	0	ENST00000393233.2:c.*299C>T			ENST00000393233	NM_001270440.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12283.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATTGGGGTC	NONE	.	.	.	.	.	ENSP00000326253	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000322912	Transcript	.	.	ENSG00000132026	30310	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTBDN_HUMAN	RTBDN	HGNC	K7EN64_HUMAN,K7EKV3_HUMAN,K7EIS2_HUMAN	.	UPI000006D823	SNV	RTBDN,3_prime_UTR_variant,,ENST00000393233,;RTBDN,3_prime_UTR_variant,,ENST00000589272,;RTBDN,intron_variant,,ENST00000586969,;RTBDN,intron_variant,,ENST00000589681,;RTBDN,intron_variant,,ENST00000322912,;RTBDN,intron_variant,,ENST00000458671,;RTBDN,intron_variant,,ENST00000589808,;RTBDN,intron_variant,,ENST00000592204,;RTBDN,intron_variant,,ENST00000590404,;RTBDN,downstream_gene_variant,,ENST00000585384,;RTBDN,downstream_gene_variant,,ENST00000587549,;RTBDN,downstream_gene_variant,,ENST00000591512,;RTBDN,downstream_gene_variant,,ENST00000589567,;CTD-2265O21.3,intron_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;	.	22	30	SUCCESS
GLTPD1	0	.	GRCh37	1	1260019	1260019	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs751256998	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	14	0				ENST00000343938	NM_001029885.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS57960.1	.	RADIA|MUTECT|MUSE	.	CGAGGCCCGCC	NONE	.	30	.	.	.	ENSP00000445001	.	.	.	.	.	.	.	.	.	.	rs751256998	.	nonpreferredpair	ENST00000540437	Transcript	.	.	ENSG00000127054	26052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INT11_HUMAN	CPSF3L	HGNC	J3QRY6_HUMAN,E9PNH9_HUMAN,E9PI75_HUMAN	.	UPI0000EE7E27	SNV	CPSF3L,5_prime_UTR_variant,,ENST00000419704,;CPSF3L,5_prime_UTR_variant,,ENST00000450926,;CPSF3L,5_prime_UTR_variant,,ENST00000527719,;CPSF3L,5_prime_UTR_variant,,ENST00000530031,;CPSF3L,5_prime_UTR_variant,,ENST00000435064,;CPSF3L,5_prime_UTR_variant,,ENST00000526332,;CPSF3L,5_prime_UTR_variant,,ENST00000534345,;CPSF3L,5_prime_UTR_variant,,ENST00000498476,;CPSF3L,5_prime_UTR_variant,,ENST00000411962,;CPSF3L,upstream_gene_variant,,ENST00000434694,;CPSF3L,upstream_gene_variant,,ENST00000545578,;CPSF3L,upstream_gene_variant,,ENST00000421495,;CPSF3L,upstream_gene_variant,,ENST00000540437,;GLTPD1,upstream_gene_variant,,ENST00000343938,;GLTPD1,upstream_gene_variant,,ENST00000488011,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000490853,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000532952,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000493534,;GLTPD1,upstream_gene_variant,,ENST00000464957,;CPSF3L,5_prime_UTR_variant,,ENST00000531019,;CPSF3L,5_prime_UTR_variant,,ENST00000528879,;CPSF3L,5_prime_UTR_variant,,ENST00000458452,;CPSF3L,5_prime_UTR_variant,,ENST00000526797,;CPSF3L,5_prime_UTR_variant,,ENST00000527098,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000530233,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000526904,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000429572,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000498173,;CPSF3L,upstream_gene_variant,,ENST00000470679,;CPSF3L,upstream_gene_variant,,ENST00000430786,;CPSF3L,upstream_gene_variant,,ENST00000532772,;CPSF3L,upstream_gene_variant,,ENST00000323275,;CPSF3L,upstream_gene_variant,,ENST00000488042,;CPSF3L,upstream_gene_variant,,ENST00000525285,;CPSF3L,upstream_gene_variant,,ENST00000525603,;CPSF3L,upstream_gene_variant,,ENST00000496353,;CPSF3L,upstream_gene_variant,,ENST00000526113,;	.	14	11	SUCCESS
SLAMF8	56833	.	GRCh37	1	159805254	159805254	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	16	0	ENST00000289707.5:c.*204C>A			ENST00000289707	NM_020125.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1188.1	.	MUTECT|MUSE	.	TCCCTCTCCCA	NONE	.	.	.	.	.	ENSP00000289707	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000289707	Transcript	.	.	ENSG00000158714	21391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAF8_HUMAN	SLAMF8	HGNC	.	.	UPI000003E841	SNV	SLAMF8,3_prime_UTR_variant,,ENST00000368104,;SLAMF8,3_prime_UTR_variant,,ENST00000289707,;C1orf204,3_prime_UTR_variant,,ENST00000368102,;C1orf204,non_coding_transcript_exon_variant,,ENST00000491974,;SLAMF8,intron_variant,,ENST00000471286,;SLAMF8,intron_variant,,ENST00000497141,;	1211	16	18	SUCCESS
APOBEC4	403314	.	GRCh37	1	183616764	183616764	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	9	0	ENST00000308641.4:c.*49T>C			ENST00000308641	NM_203454.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1358.1	.	MUTECT|MUSE|VARSCANS	.	TGCCTATCTAA	NONE	.	.	.	.	.	ENSP00000310622	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000308641	Transcript	.	.	ENSG00000173627	32152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABEC4_HUMAN	APOBEC4	HGNC	.	.	UPI0000071339	SNV	APOBEC4,3_prime_UTR_variant,,ENST00000308641,;RGL1,intron_variant,,ENST00000304685,;RGL1,intron_variant,,ENST00000536277,;APOBEC4,non_coding_transcript_exon_variant,,ENST00000481562,;	1425	9	16	SUCCESS
TMEM191C	645426	.	GRCh37	22	21829504	21829504	+	downstream_gene_variant	3'Flank	SNP	A	A	C	rs756989739	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	92	230	0				ENST00000449424				0	.	.	.	.	.	C	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE	.	CTTCAAGAGCT	NONE	byFrequency	3946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756989739	.	nonpreferredpair	ENST00000449424	Transcript	.	.	ENSG00000206140	33601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TMEM191C	HGNC	.	.	.	SNV	TMEM191C,downstream_gene_variant,,ENST00000536718,;TMEM191C,downstream_gene_variant,,ENST00000449424,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000450651,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000470274,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000494740,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000477296,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000486209,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000463608,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000462560,;PI4KAP2,downstream_gene_variant,,ENST00000480319,;PI4KAP2,downstream_gene_variant,,ENST00000479693,;PI4KAP2,downstream_gene_variant,,ENST00000467443,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000546263,;PI4KAP2,non_coding_transcript_exon_variant,,ENST00000360806,;	.	230	300	SUCCESS
ZNF660	285349	.	GRCh37	3	44637129	44637129	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	41	0	ENST00000322734.2:c.*448T>C			ENST00000322734	NM_173658.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2716.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCTTTCTA	NONE	.	.	.	.	.	ENSP00000324605	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000322734	Transcript	.	.	ENSG00000144792	26720	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN660_HUMAN	ZNF660	HGNC	C9J3N9_HUMAN,C9J3D4_HUMAN	.	UPI0000140EF2	SNV	ZNF660,3_prime_UTR_variant,,ENST00000322734,;ZNF197,intron_variant,,ENST00000412641,;ZNF660,downstream_gene_variant,,ENST00000441021,;ZNF660,downstream_gene_variant,,ENST00000416644,;RP11-944L7.5,downstream_gene_variant,,ENST00000419137,;RP11-944L7.4,intron_variant,,ENST00000457331,;	1777	41	33	SUCCESS
PPM1M	132160	.	GRCh37	3	52283840	52283840	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	10	42	0	ENST00000296487.4:c.*441C>A			ENST00000296487				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46840.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGACACTGT	NONE	.	.	.	.	.	ENSP00000387046	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000409502	Transcript	.	.	ENSG00000164088	26506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPM1M_HUMAN	PPM1M	HGNC	.	.	UPI000006FA2C	SNV	PPM1M,3_prime_UTR_variant,,ENST00000323588,;PPM1M,3_prime_UTR_variant,,ENST00000296487,;PPM1M,3_prime_UTR_variant,,ENST00000409502,;WDR82,downstream_gene_variant,,ENST00000296490,;PPM1M,downstream_gene_variant,,ENST00000457351,;PPM1M,downstream_gene_variant,,ENST00000457454,;PPM1M,downstream_gene_variant,,ENST00000443681,;PPM1M,non_coding_transcript_exon_variant,,ENST00000482724,;PPM1M,non_coding_transcript_exon_variant,,ENST00000467471,;PPM1M,non_coding_transcript_exon_variant,,ENST00000489606,;PPM1M,downstream_gene_variant,,ENST00000472955,;	1017	42	76	SUCCESS
PCDHB7	56129	.	GRCh37	5	140554893	140554893	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	41	232	0	ENST00000231137.3:c.*95A>T			ENST00000231137	NM_018940.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4249.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAAATATG	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	2651	232	249	SUCCESS
FUT9	10690	.	GRCh37	6	96663020	96663020	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	27	50	0	ENST00000302103.5:c.*10909G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGCTAAG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	12315	50	68	SUCCESS
TYW1B	441250	.	GRCh37	7	72040308	72040308	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	11	0	ENST00000435769.2:c.*175G>A			ENST00000435769	NM_001145440.1			0	.	.	.	.	.	T	.	protein_coding	.	.	.	MUTECT|MUSE|VARSCANS	.	GTGGCCCAGGC	NONE	.	64	.	.	.	ENSP00000476766	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000343721	Transcript	.	.	ENSG00000254184	33908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TYW1B	HGNC	B4DG43_HUMAN,B4DFY2_HUMAN	.	UPI00001980B4	SNV	TYW1B,downstream_gene_variant,,ENST00000343721,;TYW1B,intron_variant,,ENST00000438125,;TYW1B,3_prime_UTR_variant,,ENST00000435769,;	.	11	22	SUCCESS
MIOS	54468	.	GRCh37	7	7646782	7646782	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	19	0	ENST00000340080.4:c.*59T>A			ENST00000340080	NM_019005.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43554.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCATAGCTC	NONE	.	.	.	.	.	ENSP00000339881	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000340080	Transcript	.	.	ENSG00000164654	21905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIO_HUMAN	MIOS	HGNC	C9JUE6_HUMAN,C9JTV2_HUMAN,C9JAQ1_HUMAN	.	UPI000020EB0B	SNV	MIOS,3_prime_UTR_variant,,ENST00000405785,;MIOS,3_prime_UTR_variant,,ENST00000340080,;MIOS,non_coding_transcript_exon_variant,,ENST00000479694,;MIOS,non_coding_transcript_exon_variant,,ENST00000493227,;	3108	19	40	SUCCESS
XKR4	114786	.	GRCh37	8	56436936	56436936	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	8	0	ENST00000327381.6:c.*150G>A			ENST00000327381	NM_052898.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34893.1	.	MUTECT|MUSE	.	CGGCTGGGGGC	NONE	.	.	.	.	.	ENSP00000328326	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000327381	Transcript	.	.	ENSG00000206579	29394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XKR4_HUMAN	XKR4	HGNC	.	.	UPI000016098C	SNV	XKR4,3_prime_UTR_variant,,ENST00000327381,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	2203	8	14	SUCCESS
TOR4A	54863	.	GRCh37	9	140174921	140174921	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NI-01	TCGA-DD-A4NI-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	34	76	0	ENST00000357503.2:c.*508T>C			ENST00000357503	NM_017723.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7041.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGTGTTTT	NONE	.	.	.	.	.	ENSP00000350102	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000357503	Transcript	.	.	ENSG00000198113	25981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOR4A_HUMAN	TOR4A	HGNC	.	.	UPI00004577EC	SNV	TOR4A,3_prime_UTR_variant,,ENST00000357503,;	1976	76	117	SUCCESS
DNMBP	23268	.	GRCh37	10	101636820	101636820	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	107	0	ENST00000324109.4:c.*88G>A			ENST00000324109	NM_015221.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7485.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCAGGAG	NONE	.	.	.	.	.	ENSP00000315659	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000324109	Transcript	.	.	ENSG00000107554	30373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNMBP_HUMAN	DNMBP	HGNC	B4E0Q3_HUMAN	.	UPI000013D6C9	SNV	DNMBP,3_prime_UTR_variant,,ENST00000540316,;DNMBP,3_prime_UTR_variant,,ENST00000543621,;DNMBP,3_prime_UTR_variant,,ENST00000324109,;DNMBP,3_prime_UTR_variant,,ENST00000342239,;	4914	107	131	SUCCESS
UBBP4	23666	.	GRCh37	17	21731636	21731636	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	173	252	0	ENST00000578713.1:c.*21A>T			ENST00000578713				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCAGTGCC	NONE	.	.	.	.	.	ENSP00000464265	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000578713	Transcript	.	.	ENSG00000263563	12467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UBBP4	HGNC	J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN	.	UPI000268AF41	SNV	UBBP4,3_prime_UTR_variant,,ENST00000581775,;UBBP4,3_prime_UTR_variant,,ENST00000578713,;UBBP4,3_prime_UTR_variant,,ENST00000583708,;UBBP4,3_prime_UTR_variant,,ENST00000584755,;UBBP4,downstream_gene_variant,,ENST00000584398,;UBBP4,downstream_gene_variant,,ENST00000581769,;	715	252	344	SUCCESS
FLJ45079	0	.	GRCh37	17	75877980	75877980	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	69	0	ENST00000374983.2:c.*28C>G			ENST00000374983				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CAGAGGGGTGG	NONE	.	.	.	.	.	ENSP00000364122	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374983	Transcript	.	.	ENSG00000204283	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FLJ45079	Uniprot_gn	Q6ZRC4_HUMAN	.	UPI00001C0D74	SNV	FLJ45079,3_prime_UTR_variant,,ENST00000374983,;	680	69	137	SUCCESS
CGB5	93659	.	GRCh37	19	49548566	49548566	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs374178699	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	57	0	ENST00000301408.6:c.*15G>A			ENST00000301408	NM_033043.1			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS12752.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGCACTC	NONE	.	.	.	.	T:0.0001	ENSP00000301408	.	3/3	.	.	.	.	.	.	.	.	rs374178699	3/3	PASS	ENST00000301408	Transcript	.	.	ENSG00000189052	16452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB5	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB5,3_prime_UTR_variant,,ENST00000301408,;CGB1,intron_variant,,ENST00000391869,;CGB8,downstream_gene_variant,,ENST00000448456,;CGB8,downstream_gene_variant,,ENST00000355414,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;CTB-60B18.15,downstream_gene_variant,,ENST00000596318,;	839	57	78	SUCCESS
ADIPOR1	51094	.	GRCh37	1	202910637	202910637	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	42	0	ENST00000340990.5:c.*64G>A			ENST00000340990	NM_015999.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1430.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCAGCAA	NONE	.	.	.	.	.	ENSP00000341785	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000340990	Transcript	.	.	ENSG00000159346	24040	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADR1_HUMAN	ADIPOR1	HGNC	C9JNM5_HUMAN,C9J0W7_HUMAN	.	UPI000003779A	SNV	ADIPOR1,3_prime_UTR_variant,,ENST00000436244,;ADIPOR1,3_prime_UTR_variant,,ENST00000340990,;ADIPOR1,downstream_gene_variant,,ENST00000367254,;ADIPOR1,downstream_gene_variant,,ENST00000426229,;ADIPOR1,downstream_gene_variant,,ENST00000417068,;ADIPOR1,non_coding_transcript_exon_variant,,ENST00000495562,;	1491	43	54	SUCCESS
ZCCHC4	29063	.	GRCh37	4	25370867	25370867	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1482313416	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	48	0	ENST00000302874.4:c.*81A>G			ENST00000302874	NM_024936.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43218.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAAATTCAG	NONE	.	.	.	.	.	ENSP00000303468	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000302874	Transcript	.	.	ENSG00000168228	22917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC4_HUMAN	ZCCHC4	HGNC	.	.	UPI0000251F28	SNV	ZCCHC4,3_prime_UTR_variant,,ENST00000505412,;ZCCHC4,3_prime_UTR_variant,,ENST00000302874,;ZCCHC4,downstream_gene_variant,,ENST00000507760,;ZCCHC4,downstream_gene_variant,,ENST00000508058,;	1647	48	42	SUCCESS
MOB1B	92597	.	GRCh37	4	71847784	71847784	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	24	0	ENST00000309395.2:c.*10G>A			ENST00000309395	NM_173468.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58903.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ATGCAGAGCTG	NONE	.	.	.	.	.	ENSP00000379366	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000396051	Transcript	.	.	ENSG00000173542	29801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MOB1B_HUMAN	MOB1B	HGNC	Q4W5E0_HUMAN,D6RCK3_HUMAN	.	UPI0000E203CF	SNV	MOB1B,3_prime_UTR_variant,,ENST00000396051,;MOB1B,3_prime_UTR_variant,,ENST00000309395,;MOB1B,intron_variant,,ENST00000511449,;	932	24	14	SUCCESS
MCC	4163	.	GRCh37	5	112362884	112362884	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	35	0	ENST00000302475.4:c.*115G>T			ENST00000302475	NM_002387.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43351.1	.	MUTECT|MUSE	.	CCGACCTACCT	NONE	.	115	.	.	.	ENSP00000386227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,3_prime_UTR_variant,,ENST00000302475,;MCC,3_prime_UTR_variant,,ENST00000515367,;MCC,downstream_gene_variant,,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	.	35	40	SUCCESS
PTP4A3	11156	.	GRCh37	8	142444054	142444054	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	5	43	0				ENST00000329397				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6383.1	.	MUTECT|MUSE	.	GGCTGGAGGTC	NONE	.	2660	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000430863,;	.	43	76	SUCCESS
DNMBP	23268	.	GRCh37	10	101636820	101636820	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	47	85	0	ENST00000324109.4:c.*88G>A			ENST00000324109	NM_015221.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7485.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTCTCAGGAG	NONE	.	.	.	.	.	ENSP00000315659	.	17/17	.	.	.	.	.	.	.	.	.	17/17	nonpreferredpair	ENST00000324109	Transcript	.	.	ENSG00000107554	30373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNMBP_HUMAN	DNMBP	HGNC	B4E0Q3_HUMAN	.	UPI000013D6C9	SNV	DNMBP,3_prime_UTR_variant,,ENST00000540316,;DNMBP,3_prime_UTR_variant,,ENST00000543621,;DNMBP,3_prime_UTR_variant,,ENST00000324109,;DNMBP,3_prime_UTR_variant,,ENST00000342239,;	4914	85	131	SUCCESS
UBBP4	23666	.	GRCh37	17	21731636	21731636	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	171	173	234	0	ENST00000578713.1:c.*21A>T			ENST00000578713				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGCAGTGCC	NONE	.	.	.	.	.	ENSP00000464265	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000578713	Transcript	.	.	ENSG00000263563	12467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	UBBP4	HGNC	J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN	.	UPI000268AF41	SNV	UBBP4,3_prime_UTR_variant,,ENST00000581775,;UBBP4,3_prime_UTR_variant,,ENST00000578713,;UBBP4,3_prime_UTR_variant,,ENST00000583708,;UBBP4,3_prime_UTR_variant,,ENST00000584755,;UBBP4,downstream_gene_variant,,ENST00000584398,;UBBP4,downstream_gene_variant,,ENST00000581769,;	715	234	344	SUCCESS
FLJ45079	0	.	GRCh37	17	75877980	75877980	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	8	96	0	ENST00000374983.2:c.*28C>G			ENST00000374983				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CAGAGGGGTGG	NONE	.	.	.	.	.	ENSP00000364122	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000374983	Transcript	.	.	ENSG00000204283	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FLJ45079	Uniprot_gn	Q6ZRC4_HUMAN	.	UPI00001C0D74	SNV	FLJ45079,3_prime_UTR_variant,,ENST00000374983,;	680	96	137	SUCCESS
CGB5	93659	.	GRCh37	19	49548566	49548566	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs374178699	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	9	31	0	ENST00000301408.6:c.*15G>A			ENST00000301408	NM_033043.1			0	T:0	.	.	.	.	A	.	protein_coding	YES	CCDS12752.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGCACTC	NONE	.	.	.	.	T:0.0001	ENSP00000301408	.	3/3	.	.	.	.	.	.	.	.	rs374178699	3/3	nonpreferredpair	ENST00000301408	Transcript	.	.	ENSG00000189052	16452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB5	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB5,3_prime_UTR_variant,,ENST00000301408,;CGB1,intron_variant,,ENST00000391869,;CGB8,downstream_gene_variant,,ENST00000448456,;CGB8,downstream_gene_variant,,ENST00000355414,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;CTB-60B18.15,downstream_gene_variant,,ENST00000596318,;	839	31	78	SUCCESS
ADIPOR1	51094	.	GRCh37	1	202910637	202910637	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	14	40	0	ENST00000340990.5:c.*64G>A			ENST00000340990	NM_015999.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1430.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACTTCAGCAA	NONE	.	.	.	.	.	ENSP00000341785	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000340990	Transcript	.	.	ENSG00000159346	24040	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADR1_HUMAN	ADIPOR1	HGNC	C9JNM5_HUMAN,C9J0W7_HUMAN	.	UPI000003779A	SNV	ADIPOR1,3_prime_UTR_variant,,ENST00000436244,;ADIPOR1,3_prime_UTR_variant,,ENST00000340990,;ADIPOR1,downstream_gene_variant,,ENST00000367254,;ADIPOR1,downstream_gene_variant,,ENST00000426229,;ADIPOR1,downstream_gene_variant,,ENST00000417068,;ADIPOR1,non_coding_transcript_exon_variant,,ENST00000495562,;	1491	40	54	SUCCESS
ZCCHC4	29063	.	GRCh37	4	25370867	25370867	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1482313416	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	61	0	ENST00000302874.4:c.*81A>G			ENST00000302874	NM_024936.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43218.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAAATTCAG	NONE	.	.	.	.	.	ENSP00000303468	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000302874	Transcript	.	.	ENSG00000168228	22917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC4_HUMAN	ZCCHC4	HGNC	.	.	UPI0000251F28	SNV	ZCCHC4,3_prime_UTR_variant,,ENST00000505412,;ZCCHC4,3_prime_UTR_variant,,ENST00000302874,;ZCCHC4,downstream_gene_variant,,ENST00000507760,;ZCCHC4,downstream_gene_variant,,ENST00000508058,;	1647	61	42	SUCCESS
MOB1B	92597	.	GRCh37	4	71847784	71847784	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	34	0	ENST00000309395.2:c.*10G>A			ENST00000309395	NM_173468.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58903.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	ATGCAGAGCTG	NONE	.	.	.	.	.	ENSP00000379366	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000396051	Transcript	.	.	ENSG00000173542	29801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MOB1B_HUMAN	MOB1B	HGNC	Q4W5E0_HUMAN,D6RCK3_HUMAN	.	UPI0000E203CF	SNV	MOB1B,3_prime_UTR_variant,,ENST00000396051,;MOB1B,3_prime_UTR_variant,,ENST00000309395,;MOB1B,intron_variant,,ENST00000511449,;	932	34	14	SUCCESS
MCC	4163	.	GRCh37	5	112362884	112362884	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	35	0	ENST00000302475.4:c.*115G>T			ENST00000302475	NM_002387.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43351.1	.	MUTECT|MUSE	.	CCGACCTACCT	NONE	.	115	.	.	.	ENSP00000386227	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,3_prime_UTR_variant,,ENST00000302475,;MCC,3_prime_UTR_variant,,ENST00000515367,;MCC,downstream_gene_variant,,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	.	35	40	SUCCESS
PTP4A3	11156	.	GRCh37	8	142444054	142444054	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-DD-A4NJ-01	TCGA-DD-A4NJ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	5	29	0				ENST00000329397				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6383.1	.	MUTECT|MUSE	.	GGCTGGAGGTC	NONE	.	2660	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000430863,;	.	29	76	SUCCESS
ITPKA	3706	.	GRCh37	15	41795385	41795385	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs753706597	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	88	0	ENST00000260386.5:c.*21G>C			ENST00000260386	NM_002220.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10076.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCGGGCCG	NONE	byFrequency	.	.	.	.	ENSP00000260386	.	7/7	.	.	.	.	.	.	.	.	rs753706597	7/7	PASS	ENST00000260386	Transcript	.	.	ENSG00000137825	6178	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP3KA_HUMAN	ITPKA	HGNC	.	.	UPI0000049A1A	SNV	ITPKA,3_prime_UTR_variant,,ENST00000260386,;LTK,downstream_gene_variant,,ENST00000561619,;LTK,downstream_gene_variant,,ENST00000263800,;LTK,downstream_gene_variant,,ENST00000355166,;ITPKA,downstream_gene_variant,,ENST00000425927,;LTK,downstream_gene_variant,,ENST00000453182,;LTK,downstream_gene_variant,,ENST00000569283,;LTK,downstream_gene_variant,,ENST00000563518,;ITPKA,downstream_gene_variant,,ENST00000491007,;ITPKA,downstream_gene_variant,,ENST00000462816,;	1460	88	66	SUCCESS
UNC13A	23025	.	GRCh37	19	17799279	17799279	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs1475171968	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	65	1				ENST00000519716	NM_001080421.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46013.2	.	MUTECT|MUSE	.	GGAAGGGGCGC	NONE	.	271	.	.	.	ENSP00000429562	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,synonymous_variant,p.%3D,ENST00000428389,;UNC13A,upstream_gene_variant,,ENST00000519716,;UNC13A,upstream_gene_variant,,ENST00000550896,;UNC13A,upstream_gene_variant,,ENST00000552293,;UNC13A,upstream_gene_variant,,ENST00000551649,;	.	66	37	SUCCESS
ZNF71	58491	.	GRCh37	19	57134448	57134448	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	46	153	0	ENST00000328070.6:c.*323C>T			ENST00000328070	NM_021216.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12947.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACGCCTGCCT	NONE	.	.	.	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,3_prime_UTR_variant,,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	2027	153	108	SUCCESS
WDR33	55339	.	GRCh37	2	128462216	128462216	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	33	0	ENST00000322313.4:c.*1681A>G			ENST00000322313	NM_018383.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2150.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCTAACAC	NONE	.	.	.	.	.	ENSP00000325377	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,3_prime_UTR_variant,,ENST00000322313,;SFT2D3,downstream_gene_variant,,ENST00000310981,;	5851	33	24	SUCCESS
LYG2	254773	.	GRCh37	2	99858781	99858781	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs202072872	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	33	0	ENST00000333017.2:c.*46C>T			ENST00000333017	NM_175735.3			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS2042.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGCGGCCAT	NONE	byCluster	.	.	.	A:0	ENSP00000327533	.	6/6	.	.	.	.	.	.	.	.	rs202072872	6/6	PASS	ENST00000333017	Transcript	.	.	ENSG00000185674	29615	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYG2_HUMAN	LYG2	HGNC	C9JBA4_HUMAN	.	UPI0000049D92	SNV	LYG2,3_prime_UTR_variant,,ENST00000409238,;LYG2,3_prime_UTR_variant,,ENST00000333017,;LYG2,downstream_gene_variant,,ENST00000409679,;LYG2,downstream_gene_variant,,ENST00000423306,;LYG2,downstream_gene_variant,,ENST00000423800,;C2orf15,intron_variant,,ENST00000424491,;	798	33	27	SUCCESS
SLC45A4	57210	.	GRCh37	8	142221523	142221523	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	108	165	2	ENST00000024061.3:c.*18C>A			ENST00000024061	NM_001080431.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34948.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TGTCTGGGAGC	NONE	.	.	.	.	.	ENSP00000024061	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,3_prime_UTR_variant,,ENST00000024061,;SLC45A4,3_prime_UTR_variant,,ENST00000433583,;SLC45A4,3_prime_UTR_variant,,ENST00000517878,;SLC45A4,3_prime_UTR_variant,,ENST00000519067,;	2723	167	201	SUCCESS
HSF1	3297	.	GRCh37	8	145537998	145537998	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	70	188	1	ENST00000528838.1:c.*5C>A			ENST00000528838	NM_005526.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCCGGA	NONE	.	.	.	.	.	ENSP00000431512	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000528838	Transcript	.	.	ENSG00000185122	5224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSF1_HUMAN	HSF1	HGNC	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN	.	UPI0000000DE5	SNV	HSF1,3_prime_UTR_variant,,ENST00000528838,;HSF1,3_prime_UTR_variant,,ENST00000400780,;DGAT1,downstream_gene_variant,,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000533240,;GS1-393G12.12,downstream_gene_variant,,ENST00000525023,;HSF1,downstream_gene_variant,,ENST00000533130,;HSF1,downstream_gene_variant,,ENST00000528199,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000529630,;DGAT1,downstream_gene_variant,,ENST00000526479,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000531447,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528988,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,downstream_gene_variant,,ENST00000527438,;HSF1,non_coding_transcript_exon_variant,,ENST00000532338,;HSF1,non_coding_transcript_exon_variant,,ENST00000527328,;DGAT1,downstream_gene_variant,,ENST00000525371,;DGAT1,downstream_gene_variant,,ENST00000527885,;DGAT1,downstream_gene_variant,,ENST00000528718,;DGAT1,downstream_gene_variant,,ENST00000524965,;	1755	190	221	SUCCESS
ABCA2	20	.	GRCh37	9	139902271	139902271	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	27	0	ENST00000341511.6:c.*110G>T			ENST00000341511	NM_212533.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43909.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCTCCACTC	NONE	.	.	.	.	.	ENSP00000344155	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,3_prime_UTR_variant,,ENST00000371605,;ABCA2,3_prime_UTR_variant,,ENST00000341511,;ABCA2,3_prime_UTR_variant,,ENST00000265662,;ABCA2,downstream_gene_variant,,ENST00000490486,;ABCA2,downstream_gene_variant,,ENST00000448336,;ABCA2,downstream_gene_variant,,ENST00000464157,;ABCA2,downstream_gene_variant,,ENST00000437791,;ABCA2,downstream_gene_variant,,ENST00000463603,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;	7471	27	14	SUCCESS
ABCA2	20	.	GRCh37	9	139902272	139902272	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	27	0	ENST00000341511.6:c.*109G>T			ENST00000341511	NM_212533.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43909.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCCACTCC	NONE	.	.	.	.	.	ENSP00000344155	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,3_prime_UTR_variant,,ENST00000371605,;ABCA2,3_prime_UTR_variant,,ENST00000341511,;ABCA2,3_prime_UTR_variant,,ENST00000265662,;ABCA2,downstream_gene_variant,,ENST00000490486,;ABCA2,downstream_gene_variant,,ENST00000448336,;ABCA2,downstream_gene_variant,,ENST00000464157,;ABCA2,downstream_gene_variant,,ENST00000437791,;ABCA2,downstream_gene_variant,,ENST00000463603,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;	7470	27	14	SUCCESS
ITPKA	3706	.	GRCh37	15	41795385	41795385	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs753706597	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	140	0	ENST00000260386.5:c.*21G>C			ENST00000260386	NM_002220.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10076.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGCGGGCCG	NONE	byFrequency	.	.	.	.	ENSP00000260386	.	7/7	.	.	.	.	.	.	.	.	rs753706597	7/7	nonpreferredpair	ENST00000260386	Transcript	.	.	ENSG00000137825	6178	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IP3KA_HUMAN	ITPKA	HGNC	.	.	UPI0000049A1A	SNV	ITPKA,3_prime_UTR_variant,,ENST00000260386,;LTK,downstream_gene_variant,,ENST00000561619,;LTK,downstream_gene_variant,,ENST00000263800,;LTK,downstream_gene_variant,,ENST00000355166,;ITPKA,downstream_gene_variant,,ENST00000425927,;LTK,downstream_gene_variant,,ENST00000453182,;LTK,downstream_gene_variant,,ENST00000569283,;LTK,downstream_gene_variant,,ENST00000563518,;ITPKA,downstream_gene_variant,,ENST00000491007,;ITPKA,downstream_gene_variant,,ENST00000462816,;	1460	140	66	SUCCESS
FAM86A	0	.	GRCh37	16	5135607	5135607	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs780301989	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	157	5	203	0	ENST00000427587.4:c.*26T>G			ENST00000427587	NM_201400.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10529.1	.	MUTECT|MUSE	.	CTCACAATCCC	NONE	byFrequency	.	.	.	.	ENSP00000398502	.	8/8	.	.	.	.	.	.	.	.	rs780301989	8/8	nonpreferredpair	ENST00000427587	Transcript	.	.	ENSG00000118894	32221	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FA86A_HUMAN	FAM86A	HGNC	.	.	UPI000013D29B	SNV	FAM86A,3_prime_UTR_variant,,ENST00000587133,;FAM86A,3_prime_UTR_variant,,ENST00000458008,;FAM86A,3_prime_UTR_variant,,ENST00000427587,;ALG1,downstream_gene_variant,,ENST00000544428,;ALG1,downstream_gene_variant,,ENST00000262374,;ALG1,downstream_gene_variant,,ENST00000588623,;ALG1,non_coding_transcript_exon_variant,,ENST00000592661,;FAM86A,3_prime_UTR_variant,,ENST00000585436,;FAM86A,3_prime_UTR_variant,,ENST00000587161,;FAM86A,non_coding_transcript_exon_variant,,ENST00000587608,;FAM86A,downstream_gene_variant,,ENST00000587200,;FAM86A,downstream_gene_variant,,ENST00000585975,;ALG1,downstream_gene_variant,,ENST00000591822,;FAM86A,downstream_gene_variant,,ENST00000586444,;	1088	203	162	SUCCESS
UNC13A	23025	.	GRCh37	19	17799279	17799279	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs1475171968	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	51	1				ENST00000519716	NM_001080421.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46013.2	.	MUTECT|MUSE	.	GGAAGGGGCGC	NONE	.	271	.	.	.	ENSP00000429562	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000519716	Transcript	1	.	ENSG00000130477	23150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	SNV	UNC13A,synonymous_variant,p.%3D,ENST00000428389,;UNC13A,upstream_gene_variant,,ENST00000519716,;UNC13A,upstream_gene_variant,,ENST00000550896,;UNC13A,upstream_gene_variant,,ENST00000552293,;UNC13A,upstream_gene_variant,,ENST00000551649,;	.	52	37	SUCCESS
ZNF71	58491	.	GRCh37	19	57134448	57134448	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	46	206	0	ENST00000328070.6:c.*323C>T			ENST00000328070	NM_021216.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12947.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCTGCCT	NONE	.	.	.	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,3_prime_UTR_variant,,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	2027	206	108	SUCCESS
WDR33	55339	.	GRCh37	2	128462216	128462216	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	25	0	ENST00000322313.4:c.*1681A>G			ENST00000322313	NM_018383.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTAACAC	NONE	.	.	.	.	.	ENSP00000325377	.	22/22	.	.	.	.	.	.	.	.	.	22/22	nonpreferredpair	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,3_prime_UTR_variant,,ENST00000322313,;SFT2D3,downstream_gene_variant,,ENST00000310981,;	5851	25	24	SUCCESS
CNGA3	1261	.	GRCh37	2	99013743	99013743	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	41	203	0	ENST00000272602.2:c.*25C>T			ENST00000272602				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2034.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCACAGG	NONE	.	.	.	.	.	ENSP00000377140	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000393504	Transcript	.	.	ENSG00000144191	2150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNGA3_HUMAN	CNGA3	HGNC	.	.	UPI000004717B	SNV	CNGA3,3_prime_UTR_variant,,ENST00000409937,;CNGA3,3_prime_UTR_variant,,ENST00000393504,;CNGA3,3_prime_UTR_variant,,ENST00000436404,;CNGA3,3_prime_UTR_variant,,ENST00000272602,;	2527	203	120	SUCCESS
LYG2	254773	.	GRCh37	2	99858781	99858781	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs202072872	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	16	0	ENST00000333017.2:c.*46C>T			ENST00000333017	NM_175735.3			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS2042.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGCGGCCAT	NONE	byCluster	.	.	.	A:0	ENSP00000327533	.	6/6	.	.	.	.	.	.	.	.	rs202072872	6/6	nonpreferredpair	ENST00000333017	Transcript	.	.	ENSG00000185674	29615	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYG2_HUMAN	LYG2	HGNC	C9JBA4_HUMAN	.	UPI0000049D92	SNV	LYG2,3_prime_UTR_variant,,ENST00000409238,;LYG2,3_prime_UTR_variant,,ENST00000333017,;LYG2,downstream_gene_variant,,ENST00000409679,;LYG2,downstream_gene_variant,,ENST00000423306,;LYG2,downstream_gene_variant,,ENST00000423800,;C2orf15,intron_variant,,ENST00000424491,;	798	16	27	SUCCESS
SLC45A4	57210	.	GRCh37	8	142221523	142221523	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	107	190	0	ENST00000024061.3:c.*18C>A			ENST00000024061	NM_001080431.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34948.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTGGGAGC	NONE	.	.	.	.	.	ENSP00000024061	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000024061	Transcript	.	.	ENSG00000022567	29196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,3_prime_UTR_variant,,ENST00000024061,;SLC45A4,3_prime_UTR_variant,,ENST00000433583,;SLC45A4,3_prime_UTR_variant,,ENST00000517878,;SLC45A4,3_prime_UTR_variant,,ENST00000519067,;	2723	190	198	SUCCESS
HSF1	3297	.	GRCh37	8	145537998	145537998	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	151	70	176	0	ENST00000528838.1:c.*5C>A			ENST00000528838	NM_005526.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6419.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCCCGGA	NONE	.	.	.	.	.	ENSP00000431512	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000528838	Transcript	.	.	ENSG00000185122	5224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSF1_HUMAN	HSF1	HGNC	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN	.	UPI0000000DE5	SNV	HSF1,3_prime_UTR_variant,,ENST00000528838,;HSF1,3_prime_UTR_variant,,ENST00000400780,;DGAT1,downstream_gene_variant,,ENST00000332324,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000533240,;GS1-393G12.12,downstream_gene_variant,,ENST00000525023,;HSF1,downstream_gene_variant,,ENST00000533130,;HSF1,downstream_gene_variant,,ENST00000528199,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000529630,;DGAT1,downstream_gene_variant,,ENST00000526479,;HSF1,downstream_gene_variant,,ENST00000530661,;HSF1,downstream_gene_variant,,ENST00000531447,;DGAT1,downstream_gene_variant,,ENST00000524844,;HSF1,downstream_gene_variant,,ENST00000528988,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,downstream_gene_variant,,ENST00000527438,;HSF1,non_coding_transcript_exon_variant,,ENST00000532338,;HSF1,non_coding_transcript_exon_variant,,ENST00000527328,;DGAT1,downstream_gene_variant,,ENST00000525371,;DGAT1,downstream_gene_variant,,ENST00000527885,;DGAT1,downstream_gene_variant,,ENST00000528718,;DGAT1,downstream_gene_variant,,ENST00000524965,;	1755	176	221	SUCCESS
ABCA2	20	.	GRCh37	9	139902271	139902271	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	24	0	ENST00000341511.6:c.*110G>T			ENST00000341511	NM_212533.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43909.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCTCCACTC	NONE	.	.	.	.	.	ENSP00000344155	.	49/49	.	.	.	.	.	.	.	.	.	49/49	nonpreferredpair	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,3_prime_UTR_variant,,ENST00000371605,;ABCA2,3_prime_UTR_variant,,ENST00000341511,;ABCA2,3_prime_UTR_variant,,ENST00000265662,;ABCA2,downstream_gene_variant,,ENST00000490486,;ABCA2,downstream_gene_variant,,ENST00000448336,;ABCA2,downstream_gene_variant,,ENST00000464157,;ABCA2,downstream_gene_variant,,ENST00000437791,;ABCA2,downstream_gene_variant,,ENST00000463603,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;	7471	24	14	SUCCESS
ABCA2	20	.	GRCh37	9	139902272	139902272	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NK-01	TCGA-DD-A4NK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	24	0	ENST00000341511.6:c.*109G>T			ENST00000341511	NM_212533.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43909.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCACTCC	NONE	.	.	.	.	.	ENSP00000344155	.	49/49	.	.	.	.	.	.	.	.	.	49/49	nonpreferredpair	ENST00000341511	Transcript	.	.	ENSG00000107331	32	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA2_HUMAN	ABCA2	HGNC	Q9UPU0_HUMAN,B4DI99_HUMAN	.	UPI00015E02DC	SNV	ABCA2,3_prime_UTR_variant,,ENST00000371605,;ABCA2,3_prime_UTR_variant,,ENST00000341511,;ABCA2,3_prime_UTR_variant,,ENST00000265662,;ABCA2,downstream_gene_variant,,ENST00000490486,;ABCA2,downstream_gene_variant,,ENST00000448336,;ABCA2,downstream_gene_variant,,ENST00000464157,;ABCA2,downstream_gene_variant,,ENST00000437791,;ABCA2,downstream_gene_variant,,ENST00000463603,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000459850,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;	7470	24	14	SUCCESS
TSPAN14	81619	.	GRCh37	10	82280171	82280171	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs552909085	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	19	0				ENST00000372156				0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS7369.1	.	MUTECT|MUSE	.	TGTCCGCACAG	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000396270	A:0	9/9	.	.	.	.	.	.	.	.	rs552909085	9/9	PASS	ENST00000429989	Transcript	.	A:0.0008	ENSG00000108219	23303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0031	.	.	TSN14_HUMAN	TSPAN14	HGNC	.	.	UPI000004ACAE	SNV	TSPAN14,3_prime_UTR_variant,,ENST00000429989,;TSPAN14,3_prime_UTR_variant,,ENST00000372164,;TSPAN14,downstream_gene_variant,,ENST00000372156,;TSPAN14,downstream_gene_variant,,ENST00000372157,;TSPAN14,downstream_gene_variant,,ENST00000481124,;TSPAN14,downstream_gene_variant,,ENST00000372158,;TSPAN14,downstream_gene_variant,,ENST00000341863,;TSPAN14,downstream_gene_variant,,ENST00000265450,;	3475	19	15	SUCCESS
C12orf68	0	.	GRCh37	12	48579591	48579591	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	96	236	1	ENST00000316554.3:c.*1101G>T			ENST00000316554	NM_001013635.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31785.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTGATGTG	NONE	.	.	.	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,3_prime_UTR_variant,,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	2226	237	256	SUCCESS
MEIS2	4212	.	GRCh37	15	37184360	37184360	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	38	125	0	ENST00000561208.1:c.*14A>C			ENST00000561208				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10044.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTGAGTT	NONE	.	.	.	.	.	ENSP00000453793	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000561208	Transcript	1	.	ENSG00000134138	7001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,3_prime_UTR_variant,,ENST00000424352,;MEIS2,3_prime_UTR_variant,,ENST00000219869,;MEIS2,3_prime_UTR_variant,,ENST00000397620,;MEIS2,3_prime_UTR_variant,,ENST00000397624,;MEIS2,3_prime_UTR_variant,,ENST00000338564,;MEIS2,3_prime_UTR_variant,,ENST00000340545,;MEIS2,3_prime_UTR_variant,,ENST00000444725,;MEIS2,3_prime_UTR_variant,,ENST00000382766,;MEIS2,3_prime_UTR_variant,,ENST00000559085,;MEIS2,3_prime_UTR_variant,,ENST00000557796,;MEIS2,3_prime_UTR_variant,,ENST00000561208,;MEIS2,downstream_gene_variant,,ENST00000559561,;MEIS2,downstream_gene_variant,,ENST00000607277,;MEIS2,downstream_gene_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559972,;MEIS2,downstream_gene_variant,,ENST00000559371,;MEIS2,downstream_gene_variant,,ENST00000558643,;MEIS2,downstream_gene_variant,,ENST00000557992,;MEIS2,downstream_gene_variant,,ENST00000561284,;	1867	125	124	SUCCESS
TMEM99	147184	.	GRCh37	17	38991735	38991735	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	49	0	ENST00000301665.3:c.*190A>G			ENST00000301665	NM_145274.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42319.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAGATTTAG	NONE	.	.	.	.	.	ENSP00000301665	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301665	Transcript	.	.	ENSG00000167920	28305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM99_HUMAN	TMEM99	HGNC	.	.	UPI0000E5924C	SNV	TMEM99,3_prime_UTR_variant,,ENST00000301665,;TMEM99,downstream_gene_variant,,ENST00000436612,;	1271	49	25	SUCCESS
PRMT1	3276	.	GRCh37	19	50191566	50191566	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	32	26	0	ENST00000454376.2:c.*64C>G			ENST00000454376	NM_001536.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46145.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCCCCTT	NONE	.	.	.	.	.	ENSP00000406162	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000454376	Transcript	.	.	ENSG00000126457	5187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PRMT1	HGNC	H7C2I1_HUMAN,E9PQ98_HUMAN,E9PNR9_HUMAN,E9PKG1_HUMAN,E9PI83_HUMAN	.	UPI0000456CFB	SNV	PRMT1,3_prime_UTR_variant,,ENST00000391851,;PRMT1,3_prime_UTR_variant,,ENST00000532489,;PRMT1,3_prime_UTR_variant,,ENST00000454376,;PRMT1,downstream_gene_variant,,ENST00000526224,;PRMT1,downstream_gene_variant,,ENST00000524771,;PRMT1,downstream_gene_variant,,ENST00000534465,;CPT1C,upstream_gene_variant,,ENST00000594587,;CPT1C,upstream_gene_variant,,ENST00000392518,;CPT1C,upstream_gene_variant,,ENST00000598396,;PRMT1,downstream_gene_variant,,ENST00000529284,;CPT1C,upstream_gene_variant,,ENST00000323446,;CPT1C,upstream_gene_variant,,ENST00000598293,;CPT1C,upstream_gene_variant,,ENST00000602019,;CPT1C,upstream_gene_variant,,ENST00000595969,;CPT1C,upstream_gene_variant,,ENST00000354199,;ADM5,upstream_gene_variant,,ENST00000420022,;PRMT1,downstream_gene_variant,,ENST00000527382,;CPT1C,upstream_gene_variant,,ENST00000405931,;CTB-33G10.6,downstream_gene_variant,,ENST00000596472,;PRMT1,non_coding_transcript_exon_variant,,ENST00000527866,;PRMT1,non_coding_transcript_exon_variant,,ENST00000530361,;PRMT1,downstream_gene_variant,,ENST00000530070,;CPT1C,upstream_gene_variant,,ENST00000598714,;CPT1C,upstream_gene_variant,,ENST00000596922,;PRMT1,downstream_gene_variant,,ENST00000525616,;CPT1C,upstream_gene_variant,,ENST00000600944,;CPT1C,upstream_gene_variant,,ENST00000595568,;CPT1C,upstream_gene_variant,,ENST00000598259,;PRMT1,downstream_gene_variant,,ENST00000529650,;CPT1C,upstream_gene_variant,,ENST00000599023,;CPT1C,upstream_gene_variant,,ENST00000295404,;PRMT1,downstream_gene_variant,,ENST00000534280,;CPT1C,upstream_gene_variant,,ENST00000594038,;PRMT1,downstream_gene_variant,,ENST00000534676,;PRMT1,downstream_gene_variant,,ENST00000528126,;	1189	26	48	SUCCESS
ZNF814	730051	.	GRCh37	19	58384077	58384077	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	64	0	ENST00000435989.2:c.*113C>G			ENST00000435989	NM_001144989.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46212.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGGGTAG	NONE	.	.	.	.	.	ENSP00000410545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000435989	Transcript	.	.	ENSG00000204514	33258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN814_HUMAN	ZNF814	HGNC	.	.	UPI0001662BAD	SNV	ZNF814,3_prime_UTR_variant,,ENST00000435989,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,downstream_gene_variant,,ENST00000597807,;CTD-2583A14.8,upstream_gene_variant,,ENST00000597780,;ZNF814,intron_variant,,ENST00000594629,;CTD-2583A14.11,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;CTD-2583A14.11,downstream_gene_variant,,ENST00000603829,;	2916	64	108	SUCCESS
LZTS3	9762	.	GRCh37	20	3145047	3145047	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1303433987	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	20	45	0	ENST00000329152.3:c.*53C>T			ENST00000329152	NM_014731.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGGACTC	NONE	.	.	.	.	.	ENSP00000332123	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	SNV	LZTS3,3_prime_UTR_variant,,ENST00000329152,;LZTS3,3_prime_UTR_variant,,ENST00000360342,;LZTS3,3_prime_UTR_variant,,ENST00000337576,;UBOX5,upstream_gene_variant,,ENST00000217173,;UBOX5,upstream_gene_variant,,ENST00000449731,;UBOX5,upstream_gene_variant,,ENST00000348031,;FASTKD5,upstream_gene_variant,,ENST00000380266,;	3473	45	110	SUCCESS
TSPAN14	81619	.	GRCh37	10	82280171	82280171	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs552909085	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	10	0				ENST00000372156				0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS7369.1	.	MUTECT|MUSE	.	TGTCCGCACAG	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000396270	A:0	9/9	.	.	.	.	.	.	.	.	rs552909085	9/9	nonpreferredpair	ENST00000429989	Transcript	.	A:0.0008	ENSG00000108219	23303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.0031	.	.	TSN14_HUMAN	TSPAN14	HGNC	.	.	UPI000004ACAE	SNV	TSPAN14,3_prime_UTR_variant,,ENST00000429989,;TSPAN14,3_prime_UTR_variant,,ENST00000372164,;TSPAN14,downstream_gene_variant,,ENST00000372156,;TSPAN14,downstream_gene_variant,,ENST00000372157,;TSPAN14,downstream_gene_variant,,ENST00000481124,;TSPAN14,downstream_gene_variant,,ENST00000372158,;TSPAN14,downstream_gene_variant,,ENST00000341863,;TSPAN14,downstream_gene_variant,,ENST00000265450,;	3475	10	15	SUCCESS
C12orf68	0	.	GRCh37	12	48579591	48579591	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	160	96	204	0	ENST00000316554.3:c.*1101G>T			ENST00000316554	NM_001013635.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31785.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTGATGTG	NONE	.	.	.	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,3_prime_UTR_variant,,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	2226	204	256	SUCCESS
MEIS2	4212	.	GRCh37	15	37184360	37184360	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	38	113	0	ENST00000561208.1:c.*14A>C			ENST00000561208				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10044.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTTGAGTT	NONE	.	.	.	.	.	ENSP00000453793	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000561208	Transcript	1	.	ENSG00000134138	7001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEIS2_HUMAN	MEIS2	HGNC	H0YKN2_HUMAN,H0YKE5_HUMAN	.	UPI000012EEBC	SNV	MEIS2,3_prime_UTR_variant,,ENST00000424352,;MEIS2,3_prime_UTR_variant,,ENST00000219869,;MEIS2,3_prime_UTR_variant,,ENST00000397620,;MEIS2,3_prime_UTR_variant,,ENST00000397624,;MEIS2,3_prime_UTR_variant,,ENST00000338564,;MEIS2,3_prime_UTR_variant,,ENST00000340545,;MEIS2,3_prime_UTR_variant,,ENST00000444725,;MEIS2,3_prime_UTR_variant,,ENST00000382766,;MEIS2,3_prime_UTR_variant,,ENST00000559085,;MEIS2,3_prime_UTR_variant,,ENST00000557796,;MEIS2,3_prime_UTR_variant,,ENST00000561208,;MEIS2,downstream_gene_variant,,ENST00000559561,;MEIS2,downstream_gene_variant,,ENST00000607277,;MEIS2,downstream_gene_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559972,;MEIS2,downstream_gene_variant,,ENST00000559371,;MEIS2,downstream_gene_variant,,ENST00000558643,;MEIS2,downstream_gene_variant,,ENST00000557992,;MEIS2,downstream_gene_variant,,ENST00000561284,;	1867	113	124	SUCCESS
TMEM99	147184	.	GRCh37	17	38991735	38991735	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	9	28	0	ENST00000301665.3:c.*190A>G			ENST00000301665	NM_145274.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42319.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTAGATTTAG	NONE	.	.	.	.	.	ENSP00000301665	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000301665	Transcript	.	.	ENSG00000167920	28305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM99_HUMAN	TMEM99	HGNC	.	.	UPI0000E5924C	SNV	TMEM99,3_prime_UTR_variant,,ENST00000301665,;TMEM99,downstream_gene_variant,,ENST00000436612,;	1271	28	25	SUCCESS
PRMT1	3276	.	GRCh37	19	50191566	50191566	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	32	30	0	ENST00000454376.2:c.*64C>G			ENST00000454376	NM_001536.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46145.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCCCCTT	NONE	.	.	.	.	.	ENSP00000406162	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000454376	Transcript	.	.	ENSG00000126457	5187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PRMT1	HGNC	H7C2I1_HUMAN,E9PQ98_HUMAN,E9PNR9_HUMAN,E9PKG1_HUMAN,E9PI83_HUMAN	.	UPI0000456CFB	SNV	PRMT1,3_prime_UTR_variant,,ENST00000391851,;PRMT1,3_prime_UTR_variant,,ENST00000532489,;PRMT1,3_prime_UTR_variant,,ENST00000454376,;PRMT1,downstream_gene_variant,,ENST00000526224,;PRMT1,downstream_gene_variant,,ENST00000524771,;PRMT1,downstream_gene_variant,,ENST00000534465,;CPT1C,upstream_gene_variant,,ENST00000594587,;CPT1C,upstream_gene_variant,,ENST00000392518,;CPT1C,upstream_gene_variant,,ENST00000598396,;PRMT1,downstream_gene_variant,,ENST00000529284,;CPT1C,upstream_gene_variant,,ENST00000323446,;CPT1C,upstream_gene_variant,,ENST00000598293,;CPT1C,upstream_gene_variant,,ENST00000602019,;CPT1C,upstream_gene_variant,,ENST00000595969,;CPT1C,upstream_gene_variant,,ENST00000354199,;ADM5,upstream_gene_variant,,ENST00000420022,;PRMT1,downstream_gene_variant,,ENST00000527382,;CPT1C,upstream_gene_variant,,ENST00000405931,;CTB-33G10.6,downstream_gene_variant,,ENST00000596472,;PRMT1,non_coding_transcript_exon_variant,,ENST00000527866,;PRMT1,non_coding_transcript_exon_variant,,ENST00000530361,;PRMT1,downstream_gene_variant,,ENST00000530070,;CPT1C,upstream_gene_variant,,ENST00000598714,;CPT1C,upstream_gene_variant,,ENST00000596922,;PRMT1,downstream_gene_variant,,ENST00000525616,;CPT1C,upstream_gene_variant,,ENST00000600944,;CPT1C,upstream_gene_variant,,ENST00000595568,;CPT1C,upstream_gene_variant,,ENST00000598259,;PRMT1,downstream_gene_variant,,ENST00000529650,;CPT1C,upstream_gene_variant,,ENST00000599023,;CPT1C,upstream_gene_variant,,ENST00000295404,;PRMT1,downstream_gene_variant,,ENST00000534280,;CPT1C,upstream_gene_variant,,ENST00000594038,;PRMT1,downstream_gene_variant,,ENST00000534676,;PRMT1,downstream_gene_variant,,ENST00000528126,;	1189	30	48	SUCCESS
ZNF814	730051	.	GRCh37	19	58384077	58384077	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	36	76	0	ENST00000435989.2:c.*113C>G			ENST00000435989	NM_001144989.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46212.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTGGGTAG	NONE	.	.	.	.	.	ENSP00000410545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000435989	Transcript	.	.	ENSG00000204514	33258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN814_HUMAN	ZNF814	HGNC	.	.	UPI0001662BAD	SNV	ZNF814,3_prime_UTR_variant,,ENST00000435989,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,downstream_gene_variant,,ENST00000597807,;CTD-2583A14.8,upstream_gene_variant,,ENST00000597780,;ZNF814,intron_variant,,ENST00000594629,;CTD-2583A14.11,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;CTD-2583A14.11,downstream_gene_variant,,ENST00000603829,;	2916	76	108	SUCCESS
LZTS3	9762	.	GRCh37	20	3145047	3145047	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1303433987	.	TCGA-DD-A4NN-01	TCGA-DD-A4NN-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	20	54	0	ENST00000329152.3:c.*53C>T			ENST00000329152	NM_014731.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGGGACTC	NONE	.	.	.	.	.	ENSP00000332123	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	SNV	LZTS3,3_prime_UTR_variant,,ENST00000329152,;LZTS3,3_prime_UTR_variant,,ENST00000360342,;LZTS3,3_prime_UTR_variant,,ENST00000337576,;UBOX5,upstream_gene_variant,,ENST00000217173,;UBOX5,upstream_gene_variant,,ENST00000449731,;UBOX5,upstream_gene_variant,,ENST00000348031,;FASTKD5,upstream_gene_variant,,ENST00000380266,;	3473	54	110	SUCCESS
GTF2H1	2965	.	GRCh37	11	18387459	18387459	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	36	0	ENST00000265963.4:c.*43A>G			ENST00000265963	NM_005316.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7838.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTATGACC	NONE	.	.	.	.	.	ENSP00000265963	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000265963	Transcript	.	.	ENSG00000110768	4655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF2H1_HUMAN	GTF2H1	HGNC	F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN	.	UPI0000136C8A	SNV	GTF2H1,3_prime_UTR_variant,,ENST00000534641,;GTF2H1,3_prime_UTR_variant,,ENST00000530496,;GTF2H1,3_prime_UTR_variant,,ENST00000265963,;GTF2H1,3_prime_UTR_variant,,ENST00000453096,;GTF2H1,downstream_gene_variant,,ENST00000526630,;	1850	36	56	SUCCESS
PTOV1	53635	.	GRCh37	19	50363651	50363651	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1288900032	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	12	0	ENST00000391842.1:c.*115G>A			ENST00000391842	NM_017432.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12782.1	.	MUTECT|MUSE	.	GTGGGGTTGGG	NONE	.	.	.	.	.	ENSP00000375717	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000391842	Transcript	.	.	ENSG00000104960	9632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTOV1_HUMAN	PTOV1	HGNC	.	.	UPI000000DA02	SNV	PTOV1,3_prime_UTR_variant,,ENST00000391842,;PTOV1,3_prime_UTR_variant,,ENST00000221557,;PTOV1,intron_variant,,ENST00000601675,;PTOV1,intron_variant,,ENST00000599732,;PTOV1,intron_variant,,ENST00000600603,;PTOV1,intron_variant,,ENST00000597730,;PTOV1,intron_variant,,ENST00000601638,;PTOV1,intron_variant,,ENST00000601093,;PNKP,downstream_gene_variant,,ENST00000600910,;PNKP,downstream_gene_variant,,ENST00000597965,;PNKP,downstream_gene_variant,,ENST00000596014,;PNKP,downstream_gene_variant,,ENST00000600573,;PNKP,downstream_gene_variant,,ENST00000322344,;PTOV1,downstream_gene_variant,,ENST00000600793,;PTOV1,downstream_gene_variant,,ENST00000594151,;AC018766.4,non_coding_transcript_exon_variant,,ENST00000596624,;AC018766.5,upstream_gene_variant,,ENST00000593654,;AC018766.5,upstream_gene_variant,,ENST00000599259,;AC018766.5,upstream_gene_variant,,ENST00000601893,;PTOV1,intron_variant,,ENST00000598325,;PTOV1,downstream_gene_variant,,ENST00000600105,;PTOV1,downstream_gene_variant,,ENST00000594165,;PTOV1,intron_variant,,ENST00000597793,;PTOV1,intron_variant,,ENST00000601612,;PNKP,downstream_gene_variant,,ENST00000599454,;PNKP,downstream_gene_variant,,ENST00000595081,;PNKP,downstream_gene_variant,,ENST00000593706,;PNKP,downstream_gene_variant,,ENST00000594661,;PNKP,downstream_gene_variant,,ENST00000593946,;PTOV1,downstream_gene_variant,,ENST00000595934,;PTOV1,downstream_gene_variant,,ENST00000596424,;PNKP,downstream_gene_variant,,ENST00000601816,;PTOV1,downstream_gene_variant,,ENST00000598632,;PNKP,downstream_gene_variant,,ENST00000598020,;	1536	12	11	SUCCESS
MOCS3	27304	.	GRCh37	20	49577765	49577765	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	90	0	ENST00000244051.1:c.*1003T>C			ENST00000244051	NM_014484.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13435.1	.	MUTECT|MUSE|VARSCANS	.	AACCCTTTGCC	NONE	.	.	.	.	.	ENSP00000244051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244051	Transcript	.	.	ENSG00000124217	15765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MOCS3_HUMAN	MOCS3	HGNC	.	.	UPI000012F369	SNV	MOCS3,3_prime_UTR_variant,,ENST00000244051,;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000371588,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000466152,;	2403	90	140	SUCCESS
CMYA5	202333	.	GRCh37	5	79095470	79095470	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs139467057	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	38	0	ENST00000446378.2:c.*31G>A			ENST00000446378	NM_153610.3			0	A:0.0165	A:0.0136	.	A:0.0043	.	A	.	protein_coding	YES	CCDS47238.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGATTTG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0004	ENSP00000394770	A:0	13/13	.	.	.	.	.	.	.	.	rs139467057	13/13	common_in_exac	ENST00000446378	Transcript	.	A:0.0042	ENSG00000164309	14305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,3_prime_UTR_variant,,ENST00000446378,;CTC-431G16.2,intron_variant,,ENST00000421252,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	12272	38	39	SUCCESS
TGIF2LX	90316	.	GRCh37	X	89177852	89177852	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	392	10	273	0	ENST00000283891.5:c.*42A>T			ENST00000283891	NM_138960.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14459.1	.	MUTECT|MUSE	.	TATGTACTGTG	NONE	.	.	.	.	.	ENSP00000453704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000561129	Transcript	.	.	ENSG00000153779	18570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TF2LX_HUMAN	TGIF2LX	HGNC	.	.	UPI0000074793	SNV	TGIF2LX,3_prime_UTR_variant,,ENST00000283891,;TGIF2LX,3_prime_UTR_variant,,ENST00000561129,;	898	273	403	SUCCESS
GTF2H1	2965	.	GRCh37	11	18387459	18387459	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	23	51	0	ENST00000265963.4:c.*43A>G			ENST00000265963	NM_005316.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7838.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTATGACC	NONE	.	.	.	.	.	ENSP00000265963	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000265963	Transcript	.	.	ENSG00000110768	4655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF2H1_HUMAN	GTF2H1	HGNC	F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN	.	UPI0000136C8A	SNV	GTF2H1,3_prime_UTR_variant,,ENST00000534641,;GTF2H1,3_prime_UTR_variant,,ENST00000530496,;GTF2H1,3_prime_UTR_variant,,ENST00000265963,;GTF2H1,3_prime_UTR_variant,,ENST00000453096,;GTF2H1,downstream_gene_variant,,ENST00000526630,;	1850	51	56	SUCCESS
PTOV1	53635	.	GRCh37	19	50363651	50363651	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1288900032	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	9	0	ENST00000391842.1:c.*115G>A			ENST00000391842	NM_017432.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12782.1	.	MUTECT|MUSE	.	GTGGGGTTGGG	NONE	.	.	.	.	.	ENSP00000375717	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000391842	Transcript	.	.	ENSG00000104960	9632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTOV1_HUMAN	PTOV1	HGNC	.	.	UPI000000DA02	SNV	PTOV1,3_prime_UTR_variant,,ENST00000391842,;PTOV1,3_prime_UTR_variant,,ENST00000221557,;PTOV1,intron_variant,,ENST00000601675,;PTOV1,intron_variant,,ENST00000599732,;PTOV1,intron_variant,,ENST00000600603,;PTOV1,intron_variant,,ENST00000597730,;PTOV1,intron_variant,,ENST00000601638,;PTOV1,intron_variant,,ENST00000601093,;PNKP,downstream_gene_variant,,ENST00000600910,;PNKP,downstream_gene_variant,,ENST00000597965,;PNKP,downstream_gene_variant,,ENST00000596014,;PNKP,downstream_gene_variant,,ENST00000600573,;PNKP,downstream_gene_variant,,ENST00000322344,;PTOV1,downstream_gene_variant,,ENST00000600793,;PTOV1,downstream_gene_variant,,ENST00000594151,;AC018766.4,non_coding_transcript_exon_variant,,ENST00000596624,;AC018766.5,upstream_gene_variant,,ENST00000593654,;AC018766.5,upstream_gene_variant,,ENST00000599259,;AC018766.5,upstream_gene_variant,,ENST00000601893,;PTOV1,intron_variant,,ENST00000598325,;PTOV1,downstream_gene_variant,,ENST00000600105,;PTOV1,downstream_gene_variant,,ENST00000594165,;PTOV1,intron_variant,,ENST00000597793,;PTOV1,intron_variant,,ENST00000601612,;PNKP,downstream_gene_variant,,ENST00000599454,;PNKP,downstream_gene_variant,,ENST00000595081,;PNKP,downstream_gene_variant,,ENST00000593706,;PNKP,downstream_gene_variant,,ENST00000594661,;PNKP,downstream_gene_variant,,ENST00000593946,;PTOV1,downstream_gene_variant,,ENST00000595934,;PTOV1,downstream_gene_variant,,ENST00000596424,;PNKP,downstream_gene_variant,,ENST00000601816,;PTOV1,downstream_gene_variant,,ENST00000598632,;PNKP,downstream_gene_variant,,ENST00000598020,;	1536	9	11	SUCCESS
MOCS3	27304	.	GRCh37	20	49577765	49577765	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	11	77	0	ENST00000244051.1:c.*1003T>C			ENST00000244051	NM_014484.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13435.1	.	MUTECT|MUSE|VARSCANS	.	AACCCTTTGCC	NONE	.	.	.	.	.	ENSP00000244051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000244051	Transcript	.	.	ENSG00000124217	15765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MOCS3_HUMAN	MOCS3	HGNC	.	.	UPI000012F369	SNV	MOCS3,3_prime_UTR_variant,,ENST00000244051,;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000371588,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000466152,;	2403	77	140	SUCCESS
CMYA5	202333	.	GRCh37	5	79095470	79095470	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs139467057	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	31	0	ENST00000446378.2:c.*31G>A			ENST00000446378	NM_153610.3			0	A:0.0165	A:0.0136	.	A:0.0043	.	A	.	protein_coding	YES	CCDS47238.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGCGATTTG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0.0004	ENSP00000394770	A:0	13/13	.	.	.	.	.	.	.	.	rs139467057	13/13	common_in_exac,nonpreferredpair	ENST00000446378	Transcript	.	A:0.0042	ENSG00000164309	14305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CMYA5_HUMAN	CMYA5	HGNC	.	.	UPI00004F9478	SNV	CMYA5,3_prime_UTR_variant,,ENST00000446378,;CTC-431G16.2,intron_variant,,ENST00000421252,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	12272	31	39	SUCCESS
TGIF2LX	90316	.	GRCh37	X	89177852	89177852	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NO-01	TCGA-DD-A4NO-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	392	10	281	0	ENST00000283891.5:c.*42A>T			ENST00000283891	NM_138960.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14459.1	.	MUTECT|MUSE	.	TATGTACTGTG	NONE	.	.	.	.	.	ENSP00000453704	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000561129	Transcript	.	.	ENSG00000153779	18570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TF2LX_HUMAN	TGIF2LX	HGNC	.	.	UPI0000074793	SNV	TGIF2LX,3_prime_UTR_variant,,ENST00000283891,;TGIF2LX,3_prime_UTR_variant,,ENST00000561129,;	898	281	403	SUCCESS
GRSF1	2926	.	GRCh37	4	71690030	71690030	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs199749671	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	29	0	ENST00000254799.6:c.*6T>C			ENST00000254799	NM_002092.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47069.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCTAGAGTC	NONE	byCluster	.	.	.	.	ENSP00000254799	.	9/10	.	.	.	.	.	.	.	.	rs199749671	9/10	PASS	ENST00000254799	Transcript	.	.	ENSG00000132463	4610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRSF1_HUMAN	GRSF1	HGNC	.	.	UPI0001838834	SNV	GRSF1,3_prime_UTR_variant,,ENST00000499044,;GRSF1,3_prime_UTR_variant,,ENST00000439371,;GRSF1,3_prime_UTR_variant,,ENST00000545193,;GRSF1,3_prime_UTR_variant,,ENST00000514161,;GRSF1,3_prime_UTR_variant,,ENST00000254799,;GRSF1,3_prime_UTR_variant,,ENST00000502323,;GRSF1,intron_variant,,ENST00000508091,;GRSF1,3_prime_UTR_variant,,ENST00000506453,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;	1567	29	30	SUCCESS
GRSF1	2926	.	GRCh37	4	71690030	71690030	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs199749671	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	47	0	ENST00000254799.6:c.*6T>C			ENST00000254799	NM_002092.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47069.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTAGAGTC	NONE	byCluster	.	.	.	.	ENSP00000254799	.	9/10	.	.	.	.	.	.	.	.	rs199749671	9/10	nonpreferredpair	ENST00000254799	Transcript	.	.	ENSG00000132463	4610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRSF1_HUMAN	GRSF1	HGNC	.	.	UPI0001838834	SNV	GRSF1,3_prime_UTR_variant,,ENST00000499044,;GRSF1,3_prime_UTR_variant,,ENST00000439371,;GRSF1,3_prime_UTR_variant,,ENST00000545193,;GRSF1,3_prime_UTR_variant,,ENST00000514161,;GRSF1,3_prime_UTR_variant,,ENST00000254799,;GRSF1,3_prime_UTR_variant,,ENST00000502323,;GRSF1,intron_variant,,ENST00000508091,;GRSF1,3_prime_UTR_variant,,ENST00000506453,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;	1567	47	30	SUCCESS
TUBB2A	0	.	GRCh37	6	3154966	3177685	-1	splice_acceptor_variant	Splice_Site	DEL	CCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAAGACAGTGCCCGAGCAAGGGAATTTATCTAACACCCTTGCCTGTACGACCCAAAGGGACGCCTCTGTTACATCTGCCAGTCCAGTGACACTGCATGTTTTCATTCAAACCGTAGAGAAAAATATACAAATTAAATTCACATGAAGCTAGCGCAATAAATATGACCGTACCCCCGACCCAAGTTTCTGAGACAAATACACCCAGGGGAATGCCAACCGCGTCCCGCAGAAGGGCTGTGTCCCAGGGAAATCGAAAGGCCCCCGATTAAACGCACACACAGCTGCGGCGCTGCGGGCATCCTGGCGGGTCATGCAGCCTCCCGGACCCCGCCCGGCGGCCTCGCCGCGGAATGTGCCACCCGGCCAGCCCGGGGCCGCCGCGGCCTCCAGCCCCCGCCCCGGCCCCAGCCCGCACCCTCGGTCCCAACCCCGGGCCCCTCCGTGGCGGTGAGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCGCGCATGGTGCCGGCTGCGGAGCGGGTGGCGCTGGCCCTCGGAGCGGTGCGCGGCGTGGACCGGCGGGCTGGGCTGCGCAGAGACCTGCCGCCGCCCCCCCAGCTCGGTCTTTTATACCCGGGGACCCGCCCTGCCCGGTGACGTCATGACGGGCGGGGCTGTGGCCGCGGGGGCGGTGCGGCTGGGACTGCGGCACCGCGAGGGGGAGCCGGGGCGCGGTGCGAGGTGTGGGGGCGCTCGCCCTATTGCTGCTGCCGCTGGGTCTAGGGTGGGCGGCCGGCCTCGCGGTCCGGCGGTGAGTGCGGTGCCCGGGCCTCGGGCCCAGCCGCAGCCCCCTGCCCGATCCACGGGCACGGGCGACCCCTGGCGCTGGGTCCTCCGCTCACGCCGCGATCCCCACCCCGAGCCGCCCACTCTGGACCCCCGAGGGGGGCTGGGGACCGGGGGCCCCGGAACCAGGGGGAGGGGCTGCCTCGGAACAGGGTCCTCGCCTCCTAAGGACGGGAAGAGGCGTCGAGTACCCTTTGGAGTAGGGGGCCGGAAATTGAAGACCCATTTGCAGTGGGCTCTCCAGCGGGTGGCAAAGGTTTCCCGCATCCTGGGCAGGGTCCTGGACGCCGTTTGTGGGGGTGGGGTGGGCAGCGTGGAGAGGAGTGGGGGGCCGCGGGGAGCCGACGGGCAGCTGCCTGAAAGGAATGCCAGGATGGCGGGGTGGGCGGCCTTTCGCCCCTGCAGGGGAGGAAGATGGCTTGGTCGGGGGCGGGGGTTGGGGGGGCTATCAAAGGGCTGGATTTGTCACATGTCCGCTTTGGGCTCCTGCGTCCTTGTAAAGGCCTTTTAAATGTGGAAAATTCTGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGGAAAGACAGGAGGAATATATCTGCCACGTTGATGTGTCAGCTGATGGCCCTGCCCCTTACACCCCTTAGGTCGCCTGATCCTCACAGAAGCTGTCGGAGCTAGGCTGGCCAGTTCGGTAGACCCTAGGCACGGTGGCTGCCGAGCATTGAAACGTAGGTAATCTGAACTGAGATGGGCTGTTAAGTGTGAAGAACACACTGGCTTTTATGGGCTCAGTAAGTTAAAATAATGTGAAATATTTCATTACTGATTCTTAAATATTGATGGTCTATCAAAATAATAGTGTTTTGGATACATTGTGTTAAATGACTTGTTTTGAAATTAGAAAATGTAAAATTACATACTTGGTTTCCATTTGCTGCTCACTTACGCATATTTTTGTTGACTACCACCGGCTTCTGGTAAGCATTATTACTACCCCAATTTCATAGCTCCGAAAGCGAGGTTGAAAGACCTGACCAGCCACAAAGCTAGGAAGGGAAGGAATCTAAAGCCTTTGTATAAATAAAAAGCCCAGGTGAGTTTTAAAGGCTTGGGTGGGCTGTGGTAAGGACCTGACTTAATTATTCACAAAGATGGCCCTGCACGGTGGACTAGGTAACAGGGGCTTGGGGACTGCCTTTGGTTCCCAGCACATTCCAACTATATAATGATGATAATTACAGGTGCCTTGGAGCTGGCTTTGTGGTAGGAGATGAGAAGCCATATATGAAAGCACATTGAGTTTATGGAGTAAAAATGCCTTGGTAAAACCCAAGGTGATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTTAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGAGCCTGGTGGCAGGCATCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCCAGGCGACAGAGCCAGACTGCGTCTCAATAAAAAACAACAACAAAAAACCCAAGATGATGCTGTCATTCCTAATGTGCACCCTACCTGCCACCTCAATAGTTGGTCTGTATCGGAGGTGGAAACTAAAGCCAGATGTCTGTGAGTAGCCTCTTAGGCCAAGTTAGGTCTTAATCACCCCAGCTTTAGGAAGCGCCCAGCATCCTCCCAGATGTAGGTAGGCAGGTGCCTAGTGCCTCTTCTCAGGGTGGGGACAGATTTCCTAGAATTTCTCCTCCTCTCTCCCCTCTCCCTGCTGCTGGGCCCCCAGTGGACAACCTGTCCCTCGGATGCTACTCCCAGGTACCCAGGGCTTGACCTCCACCTTCTCCCCACCCCCACCCCAACTCTCACATCTTGGCTCTTCACCACAGCCGGAGCCTTCCAGATCCTCTCCAGAGAATGGCTCTCCTTGGGGTACCTTCACTCATTACACAGTTCTGAAAAGATTTTTCCAGAGATAATTGCTTCTTGGCCTTTGTGTTTTAATTCAGCGTGAAATCTGAGGCCAAATAGGAGCAGAGGATGAGACCTGAAAGGGACAGCACTAGGGACACGGGGACCCCTAGCAGCTGGGCGTTTCCCGGCCTGTGGAGCATGTGCCCACTCTGCTGTTCCTAGCTCAGTCCTCCAGCAAGTCACTGCACCTCTCTGAGCTTCTCTGGAAATGGGTTTTTCTTACGTTGGGGAGCTGGGAGGCACTGTGCGTGAACTGGACATTAGTGAGCGCACAGAAAATAAATCCATGGCAGTGTTCACGGGCGCAGGCCAGGTACCTGATTGTCTGCTCTGGATCGCTGGCAGTGAATGTTCTGCCCAAGTCGGCCTTCTCCTGCCTGGCAGTTCACGCCCAGCCTACTTCTCTCTGACGCGCTCCTCCCTCGGTGCCGCCCGTGATGTGTGTTAGTATATAATCAGAGAAACTCACACGCGGAGTTTTAAATAATGCCTGCCCTGCCTAAGGTGACTCATCTGAGGCCGTGAGTTCCTGCTCTCCCCTCCCTCGCGGCAAGTGTAGATATCCCCAACCCCACCTCGCTGTCACTAAGCAACTCGACCTTGTACAGCACCGATGCAGATAATAACAGGAGGAAATAGAGCCTGCTAATTGTCCCCTTCCCTAGAATAGGTTTTTAAGGAGCAATCTCTCCCCTTTCATGTATTTTTCAGTGTCTAAAGAGGAGCAGCTCCACCGGCTGTTGGGTGGGCCGGGGATGGGGAAGGGGAAGAGGACCAACCTCCTCCAGCCTCAAGTCACTTCCTGCTTTAGACAGGATGCCACTCGCAGTGTCTGAGCCACCCCTACCCTGAAGGCATCATTGGCGGGGTGAGGGGCGGGGGGCGGGGAAGGGCAGGTGTAATGACAAAATTCAGACTAGAGAATGTGTTCCAGGTAGGAGGCTGAGCCACATCTGTCTTTCACAAAAGGACATAAGCTCTTACCCTTTTGCCTGCCCTTCCCGCCTGCTGCTTCAGAGGGCCCAACGAGAAGGGTCCTGGTGAGAATGTTCTAGTGAAACGTACCCTGTGAATATGTGGTGTTATGATGATATCGTTACTGTTCACTGATGCCATCTCTAAGGGTGACAGTCGTGATCTAGTTGAAATAGATTTAGTTGGTCCAAGTAAGAGAGTCCTGGAACTTCAAAAACACTAGTTTCCTCTGCAGAATGATGAAAACCCAAGGACCATCCCAGCAATACAATTGTCTAAATTTGTATGGTACAGTCTTGCATCCTGTTTGTGCCCTCAGAGAACTAGCCACACTCTCCGCTCCAACTTCTCTTTCCCATGAAACTCATCCAGTGCAGCCCCTGTCTGCTATTTTTTAAATAAAAGCATCTCTTTATGAAGATGGAAGAATTTTGTTCAAAGCATTTAAGGGGATGTAACCTTTTCAAAAGGTTACCTAAAATAAAAGTCTGAACTCCAATTAAATTTAATTTTAAAATATCAACCCCACCAAAGTTTACAATTTTTTTTTTTTTTTGCATCAGATGACTATAATAATACAGAGTAAATATATAGAAGATTTTTAGCCACTTTCTGGAATGGGCCATGCCCCAGAATGTGACATTCATATTACAAGTGTCGATCTGGGGCCTTTCAAAACTGAAGATGTCATTTTTTGTTTTTTTTTGAAATGGAGTCTCGACTAGGCTGGAGTGCAGTGGCATGATCTTCGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGCGATCCTCTCGCTTTAGCCTGCCGAGTACCTGGGATTACAGGCGTGCACCACCATGCCTGATTAATTTTTGTATTTTTAGTAGAGGCAGCGTTTCACCATGTTGGCCAGGCTGGTCTCAAAGATGTTATTCTTGATGTCAAATTCTCATTAAGCTATAACCCCCCAAGTTTTTTTTAAATACATACAATGTACACAGCAATTATATATACATATATCTTATATACATATTTCCTGATTATAAAATTAGAAACACTTAGAAAGTACTAAAGAGCACAAGTGTATCCCCTGTTCTCGAGATTTTTTTAAATGCTTGATGTATTATATTCCTTTGTGTTTTTCCTATTCATGGGCTGTTTAGGTGTTTTTGTTCCTTTATAACTTTTTTTTTTTTGCCTTCAACATTAAGAGTGAAGAAATACTATATCTTCTTCTGCTATGACTTAGACATAATCTCACAAATTCTCAAAAATATGTAACCTACTCCCAACTGTCATTCTCCCCATAATCTGAGGTGTCCAGAGCATACCGAATTATCTACAGAGCAAACTCATCTCTGCTTCCCATGACTAAGGCCGTTTAGAGGACTCAGTGCCCTCCTGCCGCGTTCCCTGACTGTTGAAAAGCACAGGGCCTAGAGTTGATGGACTGGGTGCAAATCCTCACTGTCACTTCTTAGCTGTGTGACCTCGGCAAGTTACTTAACCTCTCTCTGCCTTAGTTGCCTCATCTGTAAAGTGACAGTAATAATAGTACCCGCTTCCTGGGGTTGTGATAAAGACTGAATGAATATGTGAAAGCACTCACAATACCACCTGCCCCACAGTGTTATATAAATATTAGCTATTATAACGGGTTAATCCCGTCCTCCCCCCACTCCCTCCCTCCCTCCCTTTTTTTCTCCCTCCTTCCCCTCCCTCCCTGGAGCTCTTCTGGAATCAGGACTCAACTCCAGAGCCACTTGCGAGGCTCCCATGCGGCGAGACTGCGGTCTCCGCTGGCCGCACGCTCTTCTGCATACAGCTCCGCACTACACTCCTCTCCCCTAATCCCGAGGCTGGCGCTGCAGAGTGAGCGAGCGCAGGATCGCTAAGCGCGAGCCGAGGCGCCATCGGAACACTCTTGCCCCCACCCAGACGTCGAGTCTGCAGGTCCAGGGCAGAGGGCGCTGGGCGGCGCCGGGAGGCGCGAGGCACCCGGGAGAGCCGGCTCCGTGGCTTCCTACTACCTGACCCCCTGACCACCTAGTTCTGGAGCCAGGCTTCTTCACCCTTCGCCAGGTCTGGGCTGCCAGGGACTCGGGGTGGGGCCGCCACGCTGCCTTCTCCTTCCGTCCGGAGCGCCGGGGCGCGCGACCCGCTCCGTTTCACGCTCTAGGCAAACGGTAGTTCGGGAAAGGCTGAGCTTCGCCCCCTCCCCGCGGTGAGAGCGCGGCGCGGCGGGGCGGGGCCTCCTGCGGGCGGGAGAGGCACCGGGGTCCAGGGGCCGCGGCGCAGGGGGAGGGCGGGGCTGTGCCCCCCGGAGGCCCTGCCCGCCCCGCCCCGCCCCGCCCCGCCCCAAGACCCGGGTTCCCCCTGGAGGCCGCCACCGCCCGTCCCTGCCCGTCGCCGGCAAGGCCTGAGCCTCTGTCTCAAGATCGGACGGCCTTTGCAGCGGGAGCACCAACCAACCCCACAAATTCATGAAATACTAGGCGGGAGATGCGCTCAAAATAGGACGTGCCTTTTGTTTTTTGTAGCTATAAGAGAATATCGAAGTACTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCGGTGGCGCAATTTGGGCTCACTGCAACCTCCGTCTCCGCCTAACAGCCCTGTCGTACAAAAATAACAATAGGGAACATCTGAATAGGGGGTGGGCTAATTTTGTTAAATTTACTTTTTGATGCCCCCACGTTTTGTTGCTAGTGTTAATGAAATGCCACCAATGGCTGGCTTAAATGTAGTGCTGCCAATGTATATATTCTGTGTCTCTTCTCAGTTAGGAAGAACATTTGTTACTTCCACTACCTAAAGTTTGCCCGGCATGGTCAGTTTTACCAGTAGTCACCACAAGCACACTGCTAATTAGTTTTCCAGACCTAAGGAAACGTTTGAGATCAGGATTGGGATGTGGGGGGTGTAGGGGGAGTAATGACCCCAAAATAAAAGGAAAATTGCAATAGTAAAATGAATGTTTATTTAAATGTCTACAGAATATATCATGTCAATTAGTCAAAGACAACTCAACTTTTATATTGTAATGTATAAATTATACTTAATGTAAAAAGTTAAAATAGAAAATGAAACATATCTAATATGATATGGGACAGTTCCTCCAAAAGAGTGCCAGCGACCTCCAGAGCTCGAGCTGGCTCCATTCATCACCCACTTTTAGTATCATTTTCTGGTTATCAAGAAATGAGTAGAAGTTTTTTTTGAGACCGAGTCTCACTGTGACCCCCAGGCTGGTACAATGGCTCGATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCCCACCCAGAATTTTTTTAATAACTGAAAGAAAGAAGGAGATTAAGGAAGATGGAGACAAATATGCAGGAGAAACACCCTCTGAGGGCGATTTAACAGAGCAGCGAATGTGGAAAGGGGAAGGGGAGGTGCTTCTTGGGTGCCCAGTTTCCTTGGGAGGAACTTGGGTACGTGGTCAGGGGTTGTGGGCAGTTATTCCCCTCGCTGGCCCTCAGGGGGCTCACAGGCCAAGAGCAGCTTGGTTGTCGTACATGGGTTAGGGGAAGACGGGAGAGTTAGGGTGCATGATAAGATAGAGAGGCAATGTGCAACTGGATATTTCTATGTACTTGGCCTTTCAAAATTCAAAATTTGTTAACTCATGAATACTTGTATACTGACATAATGTACAGATGCCATTTAAGGTTGGATAGTTTTGTAATTAATGAGGCATTATGGATCTCATTGAGAAGCCAATACTGACTCTGTGAGTGAAAAAACACAAATCGTTTTTCCTCTGTTCTCACAGCACAAAAGCCAACACAGAAGACTTCTGTGACCCAACGTGTAGGGGTGTTTCCCCATACACCAAGCAGGAAATCAATTCTGCCATAGACACCAGCTGGGTGTCCTCAACTTCCATTCCATTCTGACACCATCTACCAGCAGATAATGTCAGATCCCACAGGCTGAGGGCTCAGTCCCCCAGGCTCTCCCCACCACCTTCAGATGCCAACTGCAAGTGCCAGGCTGTCTTACCTGTGCCTCTGACCAACTGGCCATAAATCCGGGATTCCAGGGTCTCCTCCTTGGGTTCAATTAATTTGCCAGAGCAGCTCACAGAACTCAGGGAAATGCTTACTTACATTTCCCAGTTTATTATAAAGGCTATTACAAAGGTTACAGATGAAGAGGTGCCTAGAGTGAGGTATGGGCAAGGGGTCCATGCCCTCCCAGGACATGCCCCACCCCCAGTAGCCTCTATATGTTCCGTTACCTAAAGGTCTCCAAACCTGGTCCTTTTGGGTTAGTTTTTTATGGAGGCTTCATTTTGTAGGCCTGATTAATTAAATCATTGGCCACTGGTGATCAACTTAACCTTCAGGCCCTCTCCTCTCCAGGGAGGTTAGGGGATGGGGCTGAAAGTCCCAACCCTCTAATCATGCCTTGTTCTTTCCAGTGACCAGCCCCATCCTGAAGCTACCTAGGGGCTGCCAGCCACCAGCTGATTCATTAGCATAAAAAAGACATCACTTTGGAGATTTTAAGAATTTTAGGAGTTGTATGCCAAAAAACGAGGTTGAACATATACTTCACAATATCACAGTGACCTTGGAGAAATGAAGCTGAAAACAGCATAGGCTGAGGCCATCCATGGTGGGGAAAGCCCAGGCTAAGTATGGGAAGAGGGAGTGAGGACAGAGGCTGAGCGGCTCTGGAGCTGAGTCAACAAACGAGCTACTAAAAATGACCAGAGATTAATGCAAGAATCAGAATCTGTGTCACAATCTCAGATCTGGCTGAAAGGCCTCGTTGGGGAAGCAGGACGAAGAGGCTAGGATGTATATGTCAGAGGTGGGTTACAAGGAGACCTCTGCCCTGCAGGGCTGACTCAGAAAAACCTAGGTTGCTGCTACTCTGAGCCCAGCCTGAGACAGAAATTTCCACTGTAGCTACCTGCAGTTGTAAATTTAGCTTACCGATCCAGAACTAGTCCTCAGTGACATTGTAAGGGTGGTTACATCTCCTTTTTGTTCTGTGAAAGGAAAATAAAAATCTCTGGGCCCCAAACTCATTAAGTCAAAGGGAAAAGCTTGGGAACTGAGTCATGCAAAGACTGCCTTCCTTTTGTTCCTAAGTAGATAGCTACAAAGATAAAAGGCCACAAACCTCCCTAGGGGACCTTCCACATGATTTGCCCATCAGGAAATTCCTTGTAGGTCCCTAGATCTTTAGCCTATAACAGTTCTGTTGAATTTCACCCTGACAATGTAAATTCACAGCTCATCTTCATAGGTAAAGGACAAAGACAGGACTAGATCCTCCCTCCACTCACTAGAGACAAATGCACGTTTGGCTGCTTCCTGTACCCTGTGATTACTTTATCTAATGTAAAACTGCAGATTCACTGAGACAAATGCATAATGGACTGGCCTTCTACCTCCTCCTTTCACATGTAAAATGTGCATTCAGTGAAAGCTGATCAAAGTCTCAAAAGAATGCAACTGCTCTCCTTTTATCTACCCGCCCATTTTTTCTTTCCTCTTTCCCCCACTGCCACTCTTTCTCCATTAAATATTGACATCTCCAGACCCTTTTTGGAAAAAGCGCAGATCACAGATGTTCCCATGGTTTTGTGTTCTTTATTCCCCCTGAGTGCGTCTTCAACCTTGGCAAAATAAACCTGAGTGCGTCTTCAACCTTGGCAAATAAACCTCTAAAATGATTGAGACTCACCTTGGTCATTTTCTTTGATTTAGAGTTCTTTTATACCTCTCATTATCCTCCCACCATTTTGGGCAAGCAGGCTCCACCGCCTTAAATTCTGTACTCTAAGGACATATTGTTTTTTTGTTTTTTTGTTTTTTTTTTTAAGACGCAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGTCAGGCCTGTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGCACGTACACATCCAGATGGCCCGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCTTGTTACTGCCTTAACTGATGACATTATCCTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCTACTGAGCACCTTGTGACCCCCACTCCTGCCAGCCAGAGAACAACCCCCTCCCTTTACTATAATTTTCCTTTACCTACCCAAATTTCCTCTTAAAGAAGTGGCTGGAGCTGAAGGCATAGTCAGGGTACATGTACCTTTTTCTCTATCAGACCTCACAGATCAGTCAGCGTTTAGGCTGTTTCTCATCAGACCCCACTAAACATATACAGGAATTCCGATATCTAACTCTGTCCTACAATTTAACCTGGAGTGACCTAAATGTCATCCTGACTTCTACCCTCTCCCCAGATGAAAGGGAAAGAGTTTTTTCTCTAGTCCACTCTCACGCTGATAACCACCGGCTTCATGAGCCAGACCTCCAGGAAGGCATCAGAGCAGTTCCCCAAGAGGATCCCCAATGGAACTATCAGGCAGATTCCCCAGGTATAGCTAGGCGAGATTACATGATTTCCTGCCTAGTTGAAGGGCTTAAAAAGGCAGCTTACAAAGCTGTTAATTATGACAAGCTTAAAGAAACTACCCAAGGTAAAGATGAAAACCCAGCCCAGTTCATGGCCTGCTTTGTAGCAACCCTTACACACTTTACCGCCCTAGACCCAGAAGGGCCAGAAGGCCGCCTTATTCTTAATATGCATTTTATCACCCAATCCGCTCCTGACATTAGGAAAAAACTTCAAAAATTAGAATCTGGCCCTCAAACCCCACAACAGGAATTAATCAACCTTGCCTTCAAGGTGTACAATAATAGAGAGGAGGCAGCCAGACGGCAACGCATTTCTGAGTTACAATTACTTGCCTCTGCCGTGAGACAAAACCCAGCCACACCTCCAGCACACAAGAACTTCAAAATGCCTAAGCCGCACACACCTAAGCCACAGCAGTCAAGCATTCTTACAAGACTTCCTCCATCAGGATCTTGTTTCAAGTGCCAGAAATCTGGCCACTAGGCCAAGGAATGCCCACAGCCCAGGATTGCTCCCAAGCCATCTGTGCAGGGACCCACTGGAAATCAGACTGCCCAGCTCATCCAGCAGCTACTCCTAGAGCCCCTGAAGCTCTAGCCCAAGGCTCTCTGACTGACTCCTTCCTAGATCTGCTCGGCTTAGCAGCTGAAGATTGACGCTGCCTGATCGCCTCGGGAGCCCCCGGACCATCACGGATGCCAAGCTTCAGATGACTCTCACGGTGGAGGGTAAGTCCATCCCCTGTTTAATCGATACGGGGGCTACCCACTCCACATTACCTTCTTTTCAAGGGACTGTTTCCCTTGCCCCCATAACTGTTGTGGGTATTGACGGCCAAGCTTCAAAACCCCTAAAACTCCCCCACTCTGGTGCCAACTTGGACAACACTCTTTTATGCACTCTTTTTTAGTTATCCCCACCTGCCCAGTTCCCTTATTAGGCCGAGATATTTTAACCAAATTATCTGCTTTCCTGACTATTCCTGGACTACAGCTGCATCTCATTGCCACCCTTCTTCCCAACCCAAAGCCTCCTTTGCGTCTTCCTCTCGTATCCCCCGACCTTAACCCACAAGTATAGGACATCTCTACCCCCTCCCTGGCAACCAATCACATGACCATCACCATCCTAGTAAAACCTAATCACCGTTACCCTGCTCAACACCAATATCCCATCCCACAGCACTTTTTAAAAGGATTAAAGCCTATTATCACTCGCCTGTTACAGTATGGGCTTCTAAAACCTACAAACTCTCCTTACAATTCCCCCATTTTACCTGTCCAAAAACCGGACAAGTCTTACAGATTAGTTCAGGATCTGCGCCTCATCAATCAAATTGTTTTGCCATCCATCCTGTGGTGCCCAACCCGTACACTCTTTCGTTCTCAATACCTTCCTCCACAACTCACTATTCCGTTCTTGATCTTAAAGATGCTTTTTTCACTATTCCCCTGCACCCCTCGTCCCAGCCTCTCTTTGCTTTCACCTGGACTGACCCTGGCACCCATCAGTCCCAGCAGCTTACCTGGGCTGTGCTGCCGCAAGGTTTCAGGGACAGCCTTCATTACTTCAGCCAAGCTGTTTCTCATGATTTACTTTCTTTCCACTCCCCCGCTTCTCACCTTATTCAATATATTGATGACCTTCTTCTTTGTAGCCCCTCCTTTGAATCTTCTCAACAAGACACCCTTCTGCTCCTTCAGCATTTATTCTCCAAAGGATATCTGGTATCCCCCTCCAAAGCTCGAATTTCTTCTCCATCTGTTACCTACCTTGGCATAATTCTTCATAAAAACACACTGCTCTCCCTGCCAATCATGTCCTACTGATCTCTCAAACCCCAACCCCTTCTACAAAACAGCAACTCCTTTCCTTCCTAGGCATGGTTGGATACTTTCAACTTTGGATACCTGGTTTTGCCATCCTACCAAAACCATTATATAAACTCACAAAAGGAAACCTAGTTGACCCCATAGATCTTAAATCCTTTTCCCACTCCTCTTTCCGTTCCTTGAAGACAGCTTTAGAGACTGCCCCCACTCTAGCTCTCCCTGACTCATCCCAACCCTTTTCATTACACACAGCCTAAGTGCAGGGCTGTGCAGTCGGAATTCTTACACAAGGACTGGGATCACGTCCTGCAGCCTTTTTGTCCAAACAACTTGACCTCAATGTTTTAGGCTGGCCATCATGTCTCCGTGCAGCGGCTCCTGCTGCCCTAATACTTTTAGAGGCCCTCAAAATCACAAACTATGCTCAACTCACTCTCTACAGCTCTCATAACTTCCAAAATCTATTTTCTTCCTCACACCTGACCATATACTTTCTGCTCCCCAGCTCCTTCAGCTATACTCACTCTGTTGAGTCTCCCACAGTTACCATTGTTCCTAGCCTGGACTTCAATCCGGCCTCCAACATTATTCCAGATACCACACCTGACCCTCATGACTGCCTCTCTGATCCACCTGACATTCACCCCATTTCCCCATATTTCCTTCTTCCCTGTTCCTCACCCTGATCACATTTGGTTTATTGATGGCGGTTCCACCAGGCCTAATCGCCACTCACCAGCAAAGGCAGGCTATGCAATAGTATCTTCCACATCTATCATTGAGGCTACCGCTCTGCCCCCCTCCACTACCTCTCAGCAAGCCGAACTAGTTGCCTTAACTCGGGCCCTCACTCTTGCAAAGGGACTACGCATTAATATTTATACTGACTCTAAATATGCCTTCCATATTCTGCACCACCATGCAGTTATATGGGCTGAAAGAGGTTTTCTCACTACGCAAGGTCCTGCATCATTAATGCCTCTTTAATAAAAACTCTGCTCATGGCCGCTTTACTTCCAAAGGAAGCTGGAGTCATTCACTGCAAGGGGCATCAAAAGGCGTCCGATTGAGAGGTGACAGCGTGCTGGCAGTCCTTACAGCCCTCGCTCGCTCTGGGCGCCTCCTCTGCCTGGGCTCCCACTTTGGCGGCACTTGAGGAGCCCTTCAGCCCGCCGCTGCACTGTGGGAGCCCCTTTGTGGGCTGGCCAAGGCCAGAGCTGGCTCTGTCAGCTTGCGGGGAGGTGTGGAGTGAGAGGCGCGAGCGGGAACCGGGGCTGTAGGCGGCGCTTGCGGGCCAGCTAGAGTTCCAGGTGGGCGTGGGCTTGGTGGGCCCCGCACTCGGAGCAGCCAGCCGGCCCTGCCGGCCCCAGGCAATGAGGGGCTTAGCACCAGGGCCAGCGGCTGCAGAGGGTGTACTGGGTCCCCCAGCAGTGCCAACCCACCGGCGCTATGCTCGATTTCTCACCGGGCCTTAGCTACCTCCCCGCGGGGCAGGGCTGTACCTGCAGCCCACCATGCCTGAGCCTCCCACCCTCTCCATGGGCTCCTGCGCGGCCCCAGCCTCCCCGATGAGCGCCGCCCCCTGCTCCACAGCACCCAGTCCCATCAACCACCCAAGGGCTGAGGAGTGCGGGCGCAGGGCGTGGGACTGGCAGGCAGCTCTACCTGCAGCCCCGGTACAGGATCCACTGGGTGAAGCCAGCTAGGCTCCTGAGTCTGGTGGGGACGTGGAGAACCTTTATGTCTAGCCCAGGGATTGCAAATACACCAATCGGCACTCTGTATCTAGCCCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTCTAGCTCACGGTTTGTGAATGCACCAATCAACACTGTATCTAGCTACTCTGGTGGGGCCTTGGAGAACCTTTGTGTCGACACTCTGTATCTAGTTAATCTGGTGGGGACGTGGAGAACCTTTGTCTAGCTCAGGGATTGTAAACGCACCAATCAGCACCCTGTCAAAACAGACCACTAGGCTCTACCAATCAGCAGGATGTGGGTGGGGCCAGATAAGAGAATAAAAGCAGGCTGCCTGAGCCAGCAGTGGTAACCCACGACAGTTCTCTTCCACGCCGTGGAAGCTTTATTTTTTCGCTCTTTGGGTCCACACTGTTTTTATTGAGCTGTAACACCATGAAGGTTTGTAGCTTCACTTAAGCCAGCGTAGACCATGAGCCCCCTGGGAGGAACAAACAACTCTGGATGCGCTGCCTTAAAGAGTTCTTAACACTCACTGTGAAGGTCTGCAGCTTCACTCCTGAGCTAGTGAGACGACGAACACATCCGTAACAGCAGAAACAAACTCTGGATGCACCACCTTAAGAGCTGTACCACTCACTTCGAGGGTCTGTGGCTTCATTCTTGAAGTCAGTGAGACCAAGAATCCACCAATTCCAGACACATAGATCCTATTGCTCTAGGCAACGCTTATGCTGATGAGGTGGCTAGACAAGCAGCTAGCATTCCAACTTCTGTCTGTCATGGCCAGTTTTTCCCCCTACACGTTGGTCACTCCCACTTACTCCCCCGCTGAAACTTCCACCATATCAATCTCTTCCCACACAAGGCAAATGGTTCTTAGGCCAAGGAAAATATCTCCTTCCAGCCTTACAGGCCCATTCTATTCTGTCATCATTTCATAACCTTCCATGTAGGTTACAAGCCGCTAGCCCGTCTCTCAGAACCTCTCGTTTCCTTTCCATCATGGAAATCTATCCTCAAGGAAATAACTTCTCAGTGTTCTATCTGCTATTCTACTCAGGGATTGTTCAGGCCCCCTCCCTTCCCTACACATCAAGCTCGGGGATTTGCCCCTGCCCAGGACTGGCAAATTGACTTTACTCACATACCCTGAGTCAGAAAACTAAAATACCTCTTGGTCTGGGTAGACACTTTCACTGGATGGGTAGAAGCCTTTCCCACAGGGTCTGAGAAGGCCACCGCGGTCATTTCTTCCCTTCTGTCAGACATAATTCCTCGGTTTGGCCTTCCCACCTCTATACAGTCTGATAACGGACCAGCCTTTATTAGTCAAATCACCCAAGCAGGTTTTCAGGCTCTTAGTATTCAGTGAAACCTTCGTATCCGTCACCGTCCTCAATCTTCAGGAAAGGTAGAACAGACTAATGGTCTTTTAAAAACAGAACTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTCACCACTTTCCCTTCTCAGAAGTCAGACCTGTCCTCGGAATGCTACAGGGTACAGCACATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAGGCCCCAGTCTCATTCCAGACACCAGACCAACTTGGACTGCACCCCAAAAAACTTGTCATCCCTACTATCTTCTGTCTAGTCATACTCCTATTCACCGTTCTCAACTACTCATAAATGCTCTGCTCTTGTTTACACTGCCCTTTTTCACTGTTTCTCCAAGCCATCACAGCTGATATCTCCTGGTGCTATCCCGAAACTGCCACTCTTAACTCCCTGTTAAAGTAAATAAATAATCTTTGCTGGCAGGACTATGCTGAACCTCCTTAGGCACTCTCTAATTGGATGTCCAGGGTCCTCCCAATTCTTAGTCCTTTAATACCTGTTTTTCTCCTTCTTATTCCGTTCTTTTTTCAATTCATATAAAACCGTATCCAGGCCATCACCAATAATTCTATACGACAAATGTTTCTTCTAACAACCACACAATATCACCCCTTACCACAAAATCTTCCTTCAGCTTAATCTCTCCCATGCTAGGTTCCCACGCCACCCCTAATCCCAGCCCTGAGAAACATCGCCCATTATCTCTCCATACCACCCCCAAAAATTTTCACCACCCCAACACTTTGCCACTATTTCATTTTATTTTTCTTATTAATATAAGAAGACAGGAATGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATATTCTGTGACCTGCACATACACATCCAGATGGCCGGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCCTGTTCCTGCCTTAACTCATGACATTATCTTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCCACTGAGCACCTTGTGACCCCCACTCCTGCCCACCAGAGAACAACACCCTTTGACTATAATTTTCCTTTACCTACCCAAATCCTATAAAACGGCCCCACCCCTATCTCCCTTTGCTGACTCACTTTTCGGACTCAGCCCGCCTGCACCCAGATGAAATAAACAACCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACGCGAGTGAAACTGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTCGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTTATAATTTTTTTTTTTTTTTTTTTTTAAGAGACAGTGCCCTGCTCTGTTATCCAGGAAGGAGTGTGGTGGCATGATCATGGATTACTGCAACTTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTAGCCCCAAGGAAATAATTTAATACCAATCAATGAAGGCCTTTTTCTGATGAAAAGCTCTTTCAAGAATGTTTACGTGGAGCCACAGACTTTTCCTGGTTGTAAAGAACCTAAAGGTTGTATATTTAAAAATTAAAAGATATTCCAGCTGGGTGTGGTGGCTCATGCCTGTAATGCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCTGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGATCGAGACTCAGTCTCGGAAAAAAAAAAAAAAAAAAAAATTAAAAGATAGTCCAAGATTATCATGGCTTCTCTATGCAGAATCCCTGATGGGAAGTTATACAGCCTATCCCTGAACACCTCCCTTGACAAGGTGCTCCTACAGAGCCAGTGATTGCACACATATGTGACAAGTAATTTACATGTGCATTTCATTTAATCCTCATAATAATTGCCTTCTGAAGTGGCTACCATGATCACCATTTTTTGGACAAAGAAGGTATGGCTCAGAGAGATTAAAATCCTTGCCCAAGGCCATACAACTAGGAAGGAAAAAAAATAACTTACTTTAGGAACACAGGTTCATCTGTTCCAGAGGCTGTGCTGTTTCCACTCTGGGGTAGGCAGGACTCTAAGGTGGCCCAAGATTCACCTGGCTCGTGGTATATACTGTTGGCAAAATGAGTCAAACTCTGTAAAATATTCGAAGAGGTTTATTCTGAGCCAAATATGAGTGACTAATGGCCCATGATACCGTCCTCAGGAGGTCTTGAGAACATGGGCCCAAGGTGGTCAGGGTCCAGTTTGCTTTTATACATTTTAGGGACACAGAAGGCGTCGATCAATACATATAAGATATACATTGGTTTGGTCTGGAAGGGTAGGACAACTGGAAGGAGGGGGGCTTCCAAGTCATAGATAGATTCAAAGGTTTTCTGACTGACAATATGTAGAAAGAGTTATCAATAGAATGCCTGGGTTATGATAAGGGATTGTGGAGACCAAGGTTTTGTCATGCAGATGAAGCCTTCAGGTAGCAGGCTTCAGAGAGAATAGATTGTAAACGTTTCTCATCAGACTTTAAGAGTCTGTTCTATCAGCATTTCCAAACGGGAGGAGGGAATGCAGAGACATGTCCAGCTCCCACTTCCCATCATTGCCTGAATGAGTTTTTCAGGTTAACTTTGAATGACCTTGGCTGAGAGGAGGGTTCCATTCAGATGGTTGGGGGGGCCTTAGAATTTTATTTTTGTTTTACAACACTCACCTTTTCCCGGTTGTTCAATCAAGCATAAATCTAGGTACTGCTGTGACAGGATTTTGCAGGTGCAATTAAGTTTCCAAGTCAGTTGACCTTAAGATAGAGAGATGATCTCATTGGCCTCCCCTAATCACATGAGCCCTTTTGAAGAAGAAGATTTCTCCACCCATTGACAGACAGGATATTCGAGTTTGGAAGCAGTAGAGACCCCCTCCTGATGACCTTGAAGGATCCGATAGCCTGCTATGGAGAGGGCCATGTGGCAGGGAACAGAAGGCAGCCCCCAGGAGCAGGAAGCAGCCTCTGCTCAAAGGCCAGCAAGAAAACGGGAACCTCGGCCTATGACCGTGAGGACCTGGCCCCTGCTGAGCACGTGAGCAAGCATGGGAGAGGCCCCTGAGCTCCTGATGAGTGCAGCCCTCCCAGACCTGCTGGACTCCCAAGCAACGGAAACTGTAAGGTGATCCTGGTGCGTTAAGCTGCTGACTTTGTGGTAACCTGTTAAAATAGCAAACTGGTAGACGAGTTCTTCTTTGATGAGTGATGTAGGTCAGGTGCCCCAAAGCACGCCTTGAGGCTAGGATCTGAGTGGAAGGTGATGAGGGCAGTGTCTGTCCTGGGAAGCGTTGGAAGTGCTGTGGGGAACAGAGCCAGGAAAGAGAAGGAAGCCAAGGGGCTGCCTCAGAACAGGTCACTGCTGCAGGTGGCAAGGGTTCAACCCAGGGGCATCTGTCAGAGACCAGGCAGAACTTCACTCTGCGTCGCCCCACCTGAGTGGAGGGGAGCTGGCTACTTAGCCTCCAGAAAGAGGTTTACCTTGCTGCACAAGTGACCCCTGGGGCAGGTCACAGTTTTTTTCAGTAAGAAGCCATCAGCAGGTCTGAGAAAAACAATGGCCAAAGGCACAGGGTGGGTCCAACAGTGTCTGCTACAAAGAATTTTGATGGGAAAGTCCTTGTATCCACTGACAGTGGCCTTCAGCCATTGGACCTGCTGTGTCCCCTTAGCTGACCCGTCTGTCTTCTGCAGCTGCCATTCAGATTCCTGTCATTTTCATGCTGCAGCAGTGCTCTCCTCACTAGCTAAGCATTTCTAGTCCCTCTCTGGACCCACCATGAAGCAGGATTTTAAATACTTTGTAATCTAGAGAGGCACTGGACTCAGAGCTGAATGCAAAGGCCAGAGATGCTCTCACTCATTTAGTTGTTCTTGTCTGAAGGCTGGGATGATGCAGGTCTGATTACGTCACCGCTGGAGAGCCTCATCACACTGGTGACTCACAGGAAGCTGTCCTGGTTCTTTGTGCAGCTGCTGAAGAACATTTCACTTTCCCCGCCCCACTCCTCTCAGTGTATGGATGCTAGGCAAGGGCATGTCACCTGCGGGGTGAGCTCGGGCACCATGAGCGCCCGGTACTGCTGGCTGCCCCAGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTACGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGAGTTCATGATGCGGTCTGGGTACTCTTC	CCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAAGACAGTGCCCGAGCAAGGGAATTTATCTAACACCCTTGCCTGTACGACCCAAAGGGACGCCTCTGTTACATCTGCCAGTCCAGTGACACTGCATGTTTTCATTCAAACCGTAGAGAAAAATATACAAATTAAATTCACATGAAGCTAGCGCAATAAATATGACCGTACCCCCGACCCAAGTTTCTGAGACAAATACACCCAGGGGAATGCCAACCGCGTCCCGCAGAAGGGCTGTGTCCCAGGGAAATCGAAAGGCCCCCGATTAAACGCACACACAGCTGCGGCGCTGCGGGCATCCTGGCGGGTCATGCAGCCTCCCGGACCCCGCCCGGCGGCCTCGCCGCGGAATGTGCCACCCGGCCAGCCCGGGGCCGCCGCGGCCTCCAGCCCCCGCCCCGGCCCCAGCCCGCACCCTCGGTCCCAACCCCGGGCCCCTCCGTGGCGGTGAGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCGCGCATGGTGCCGGCTGCGGAGCGGGTGGCGCTGGCCCTCGGAGCGGTGCGCGGCGTGGACCGGCGGGCTGGGCTGCGCAGAGACCTGCCGCCGCCCCCCCAGCTCGGTCTTTTATACCCGGGGACCCGCCCTGCCCGGTGACGTCATGACGGGCGGGGCTGTGGCCGCGGGGGCGGTGCGGCTGGGACTGCGGCACCGCGAGGGGGAGCCGGGGCGCGGTGCGAGGTGTGGGGGCGCTCGCCCTATTGCTGCTGCCGCTGGGTCTAGGGTGGGCGGCCGGCCTCGCGGTCCGGCGGTGAGTGCGGTGCCCGGGCCTCGGGCCCAGCCGCAGCCCCCTGCCCGATCCACGGGCACGGGCGACCCCTGGCGCTGGGTCCTCCGCTCACGCCGCGATCCCCACCCCGAGCCGCCCACTCTGGACCCCCGAGGGGGGCTGGGGACCGGGGGCCCCGGAACCAGGGGGAGGGGCTGCCTCGGAACAGGGTCCTCGCCTCCTAAGGACGGGAAGAGGCGTCGAGTACCCTTTGGAGTAGGGGGCCGGAAATTGAAGACCCATTTGCAGTGGGCTCTCCAGCGGGTGGCAAAGGTTTCCCGCATCCTGGGCAGGGTCCTGGACGCCGTTTGTGGGGGTGGGGTGGGCAGCGTGGAGAGGAGTGGGGGGCCGCGGGGAGCCGACGGGCAGCTGCCTGAAAGGAATGCCAGGATGGCGGGGTGGGCGGCCTTTCGCCCCTGCAGGGGAGGAAGATGGCTTGGTCGGGGGCGGGGGTTGGGGGGGCTATCAAAGGGCTGGATTTGTCACATGTCCGCTTTGGGCTCCTGCGTCCTTGTAAAGGCCTTTTAAATGTGGAAAATTCTGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGGAAAGACAGGAGGAATATATCTGCCACGTTGATGTGTCAGCTGATGGCCCTGCCCCTTACACCCCTTAGGTCGCCTGATCCTCACAGAAGCTGTCGGAGCTAGGCTGGCCAGTTCGGTAGACCCTAGGCACGGTGGCTGCCGAGCATTGAAACGTAGGTAATCTGAACTGAGATGGGCTGTTAAGTGTGAAGAACACACTGGCTTTTATGGGCTCAGTAAGTTAAAATAATGTGAAATATTTCATTACTGATTCTTAAATATTGATGGTCTATCAAAATAATAGTGTTTTGGATACATTGTGTTAAATGACTTGTTTTGAAATTAGAAAATGTAAAATTACATACTTGGTTTCCATTTGCTGCTCACTTACGCATATTTTTGTTGACTACCACCGGCTTCTGGTAAGCATTATTACTACCCCAATTTCATAGCTCCGAAAGCGAGGTTGAAAGACCTGACCAGCCACAAAGCTAGGAAGGGAAGGAATCTAAAGCCTTTGTATAAATAAAAAGCCCAGGTGAGTTTTAAAGGCTTGGGTGGGCTGTGGTAAGGACCTGACTTAATTATTCACAAAGATGGCCCTGCACGGTGGACTAGGTAACAGGGGCTTGGGGACTGCCTTTGGTTCCCAGCACATTCCAACTATATAATGATGATAATTACAGGTGCCTTGGAGCTGGCTTTGTGGTAGGAGATGAGAAGCCATATATGAAAGCACATTGAGTTTATGGAGTAAAAATGCCTTGGTAAAACCCAAGGTGATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTTAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGAGCCTGGTGGCAGGCATCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCCAGGCGACAGAGCCAGACTGCGTCTCAATAAAAAACAACAACAAAAAACCCAAGATGATGCTGTCATTCCTAATGTGCACCCTACCTGCCACCTCAATAGTTGGTCTGTATCGGAGGTGGAAACTAAAGCCAGATGTCTGTGAGTAGCCTCTTAGGCCAAGTTAGGTCTTAATCACCCCAGCTTTAGGAAGCGCCCAGCATCCTCCCAGATGTAGGTAGGCAGGTGCCTAGTGCCTCTTCTCAGGGTGGGGACAGATTTCCTAGAATTTCTCCTCCTCTCTCCCCTCTCCCTGCTGCTGGGCCCCCAGTGGACAACCTGTCCCTCGGATGCTACTCCCAGGTACCCAGGGCTTGACCTCCACCTTCTCCCCACCCCCACCCCAACTCTCACATCTTGGCTCTTCACCACAGCCGGAGCCTTCCAGATCCTCTCCAGAGAATGGCTCTCCTTGGGGTACCTTCACTCATTACACAGTTCTGAAAAGATTTTTCCAGAGATAATTGCTTCTTGGCCTTTGTGTTTTAATTCAGCGTGAAATCTGAGGCCAAATAGGAGCAGAGGATGAGACCTGAAAGGGACAGCACTAGGGACACGGGGACCCCTAGCAGCTGGGCGTTTCCCGGCCTGTGGAGCATGTGCCCACTCTGCTGTTCCTAGCTCAGTCCTCCAGCAAGTCACTGCACCTCTCTGAGCTTCTCTGGAAATGGGTTTTTCTTACGTTGGGGAGCTGGGAGGCACTGTGCGTGAACTGGACATTAGTGAGCGCACAGAAAATAAATCCATGGCAGTGTTCACGGGCGCAGGCCAGGTACCTGATTGTCTGCTCTGGATCGCTGGCAGTGAATGTTCTGCCCAAGTCGGCCTTCTCCTGCCTGGCAGTTCACGCCCAGCCTACTTCTCTCTGACGCGCTCCTCCCTCGGTGCCGCCCGTGATGTGTGTTAGTATATAATCAGAGAAACTCACACGCGGAGTTTTAAATAATGCCTGCCCTGCCTAAGGTGACTCATCTGAGGCCGTGAGTTCCTGCTCTCCCCTCCCTCGCGGCAAGTGTAGATATCCCCAACCCCACCTCGCTGTCACTAAGCAACTCGACCTTGTACAGCACCGATGCAGATAATAACAGGAGGAAATAGAGCCTGCTAATTGTCCCCTTCCCTAGAATAGGTTTTTAAGGAGCAATCTCTCCCCTTTCATGTATTTTTCAGTGTCTAAAGAGGAGCAGCTCCACCGGCTGTTGGGTGGGCCGGGGATGGGGAAGGGGAAGAGGACCAACCTCCTCCAGCCTCAAGTCACTTCCTGCTTTAGACAGGATGCCACTCGCAGTGTCTGAGCCACCCCTACCCTGAAGGCATCATTGGCGGGGTGAGGGGCGGGGGGCGGGGAAGGGCAGGTGTAATGACAAAATTCAGACTAGAGAATGTGTTCCAGGTAGGAGGCTGAGCCACATCTGTCTTTCACAAAAGGACATAAGCTCTTACCCTTTTGCCTGCCCTTCCCGCCTGCTGCTTCAGAGGGCCCAACGAGAAGGGTCCTGGTGAGAATGTTCTAGTGAAACGTACCCTGTGAATATGTGGTGTTATGATGATATCGTTACTGTTCACTGATGCCATCTCTAAGGGTGACAGTCGTGATCTAGTTGAAATAGATTTAGTTGGTCCAAGTAAGAGAGTCCTGGAACTTCAAAAACACTAGTTTCCTCTGCAGAATGATGAAAACCCAAGGACCATCCCAGCAATACAATTGTCTAAATTTGTATGGTACAGTCTTGCATCCTGTTTGTGCCCTCAGAGAACTAGCCACACTCTCCGCTCCAACTTCTCTTTCCCATGAAACTCATCCAGTGCAGCCCCTGTCTGCTATTTTTTAAATAAAAGCATCTCTTTATGAAGATGGAAGAATTTTGTTCAAAGCATTTAAGGGGATGTAACCTTTTCAAAAGGTTACCTAAAATAAAAGTCTGAACTCCAATTAAATTTAATTTTAAAATATCAACCCCACCAAAGTTTACAATTTTTTTTTTTTTTTGCATCAGATGACTATAATAATACAGAGTAAATATATAGAAGATTTTTAGCCACTTTCTGGAATGGGCCATGCCCCAGAATGTGACATTCATATTACAAGTGTCGATCTGGGGCCTTTCAAAACTGAAGATGTCATTTTTTGTTTTTTTTTGAAATGGAGTCTCGACTAGGCTGGAGTGCAGTGGCATGATCTTCGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGCGATCCTCTCGCTTTAGCCTGCCGAGTACCTGGGATTACAGGCGTGCACCACCATGCCTGATTAATTTTTGTATTTTTAGTAGAGGCAGCGTTTCACCATGTTGGCCAGGCTGGTCTCAAAGATGTTATTCTTGATGTCAAATTCTCATTAAGCTATAACCCCCCAAGTTTTTTTTAAATACATACAATGTACACAGCAATTATATATACATATATCTTATATACATATTTCCTGATTATAAAATTAGAAACACTTAGAAAGTACTAAAGAGCACAAGTGTATCCCCTGTTCTCGAGATTTTTTTAAATGCTTGATGTATTATATTCCTTTGTGTTTTTCCTATTCATGGGCTGTTTAGGTGTTTTTGTTCCTTTATAACTTTTTTTTTTTTGCCTTCAACATTAAGAGTGAAGAAATACTATATCTTCTTCTGCTATGACTTAGACATAATCTCACAAATTCTCAAAAATATGTAACCTACTCCCAACTGTCATTCTCCCCATAATCTGAGGTGTCCAGAGCATACCGAATTATCTACAGAGCAAACTCATCTCTGCTTCCCATGACTAAGGCCGTTTAGAGGACTCAGTGCCCTCCTGCCGCGTTCCCTGACTGTTGAAAAGCACAGGGCCTAGAGTTGATGGACTGGGTGCAAATCCTCACTGTCACTTCTTAGCTGTGTGACCTCGGCAAGTTACTTAACCTCTCTCTGCCTTAGTTGCCTCATCTGTAAAGTGACAGTAATAATAGTACCCGCTTCCTGGGGTTGTGATAAAGACTGAATGAATATGTGAAAGCACTCACAATACCACCTGCCCCACAGTGTTATATAAATATTAGCTATTATAACGGGTTAATCCCGTCCTCCCCCCACTCCCTCCCTCCCTCCCTTTTTTTCTCCCTCCTTCCCCTCCCTCCCTGGAGCTCTTCTGGAATCAGGACTCAACTCCAGAGCCACTTGCGAGGCTCCCATGCGGCGAGACTGCGGTCTCCGCTGGCCGCACGCTCTTCTGCATACAGCTCCGCACTACACTCCTCTCCCCTAATCCCGAGGCTGGCGCTGCAGAGTGAGCGAGCGCAGGATCGCTAAGCGCGAGCCGAGGCGCCATCGGAACACTCTTGCCCCCACCCAGACGTCGAGTCTGCAGGTCCAGGGCAGAGGGCGCTGGGCGGCGCCGGGAGGCGCGAGGCACCCGGGAGAGCCGGCTCCGTGGCTTCCTACTACCTGACCCCCTGACCACCTAGTTCTGGAGCCAGGCTTCTTCACCCTTCGCCAGGTCTGGGCTGCCAGGGACTCGGGGTGGGGCCGCCACGCTGCCTTCTCCTTCCGTCCGGAGCGCCGGGGCGCGCGACCCGCTCCGTTTCACGCTCTAGGCAAACGGTAGTTCGGGAAAGGCTGAGCTTCGCCCCCTCCCCGCGGTGAGAGCGCGGCGCGGCGGGGCGGGGCCTCCTGCGGGCGGGAGAGGCACCGGGGTCCAGGGGCCGCGGCGCAGGGGGAGGGCGGGGCTGTGCCCCCCGGAGGCCCTGCCCGCCCCGCCCCGCCCCGCCCCGCCCCAAGACCCGGGTTCCCCCTGGAGGCCGCCACCGCCCGTCCCTGCCCGTCGCCGGCAAGGCCTGAGCCTCTGTCTCAAGATCGGACGGCCTTTGCAGCGGGAGCACCAACCAACCCCACAAATTCATGAAATACTAGGCGGGAGATGCGCTCAAAATAGGACGTGCCTTTTGTTTTTTGTAGCTATAAGAGAATATCGAAGTACTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCGGTGGCGCAATTTGGGCTCACTGCAACCTCCGTCTCCGCCTAACAGCCCTGTCGTACAAAAATAACAATAGGGAACATCTGAATAGGGGGTGGGCTAATTTTGTTAAATTTACTTTTTGATGCCCCCACGTTTTGTTGCTAGTGTTAATGAAATGCCACCAATGGCTGGCTTAAATGTAGTGCTGCCAATGTATATATTCTGTGTCTCTTCTCAGTTAGGAAGAACATTTGTTACTTCCACTACCTAAAGTTTGCCCGGCATGGTCAGTTTTACCAGTAGTCACCACAAGCACACTGCTAATTAGTTTTCCAGACCTAAGGAAACGTTTGAGATCAGGATTGGGATGTGGGGGGTGTAGGGGGAGTAATGACCCCAAAATAAAAGGAAAATTGCAATAGTAAAATGAATGTTTATTTAAATGTCTACAGAATATATCATGTCAATTAGTCAAAGACAACTCAACTTTTATATTGTAATGTATAAATTATACTTAATGTAAAAAGTTAAAATAGAAAATGAAACATATCTAATATGATATGGGACAGTTCCTCCAAAAGAGTGCCAGCGACCTCCAGAGCTCGAGCTGGCTCCATTCATCACCCACTTTTAGTATCATTTTCTGGTTATCAAGAAATGAGTAGAAGTTTTTTTTGAGACCGAGTCTCACTGTGACCCCCAGGCTGGTACAATGGCTCGATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCCCACCCAGAATTTTTTTAATAACTGAAAGAAAGAAGGAGATTAAGGAAGATGGAGACAAATATGCAGGAGAAACACCCTCTGAGGGCGATTTAACAGAGCAGCGAATGTGGAAAGGGGAAGGGGAGGTGCTTCTTGGGTGCCCAGTTTCCTTGGGAGGAACTTGGGTACGTGGTCAGGGGTTGTGGGCAGTTATTCCCCTCGCTGGCCCTCAGGGGGCTCACAGGCCAAGAGCAGCTTGGTTGTCGTACATGGGTTAGGGGAAGACGGGAGAGTTAGGGTGCATGATAAGATAGAGAGGCAATGTGCAACTGGATATTTCTATGTACTTGGCCTTTCAAAATTCAAAATTTGTTAACTCATGAATACTTGTATACTGACATAATGTACAGATGCCATTTAAGGTTGGATAGTTTTGTAATTAATGAGGCATTATGGATCTCATTGAGAAGCCAATACTGACTCTGTGAGTGAAAAAACACAAATCGTTTTTCCTCTGTTCTCACAGCACAAAAGCCAACACAGAAGACTTCTGTGACCCAACGTGTAGGGGTGTTTCCCCATACACCAAGCAGGAAATCAATTCTGCCATAGACACCAGCTGGGTGTCCTCAACTTCCATTCCATTCTGACACCATCTACCAGCAGATAATGTCAGATCCCACAGGCTGAGGGCTCAGTCCCCCAGGCTCTCCCCACCACCTTCAGATGCCAACTGCAAGTGCCAGGCTGTCTTACCTGTGCCTCTGACCAACTGGCCATAAATCCGGGATTCCAGGGTCTCCTCCTTGGGTTCAATTAATTTGCCAGAGCAGCTCACAGAACTCAGGGAAATGCTTACTTACATTTCCCAGTTTATTATAAAGGCTATTACAAAGGTTACAGATGAAGAGGTGCCTAGAGTGAGGTATGGGCAAGGGGTCCATGCCCTCCCAGGACATGCCCCACCCCCAGTAGCCTCTATATGTTCCGTTACCTAAAGGTCTCCAAACCTGGTCCTTTTGGGTTAGTTTTTTATGGAGGCTTCATTTTGTAGGCCTGATTAATTAAATCATTGGCCACTGGTGATCAACTTAACCTTCAGGCCCTCTCCTCTCCAGGGAGGTTAGGGGATGGGGCTGAAAGTCCCAACCCTCTAATCATGCCTTGTTCTTTCCAGTGACCAGCCCCATCCTGAAGCTACCTAGGGGCTGCCAGCCACCAGCTGATTCATTAGCATAAAAAAGACATCACTTTGGAGATTTTAAGAATTTTAGGAGTTGTATGCCAAAAAACGAGGTTGAACATATACTTCACAATATCACAGTGACCTTGGAGAAATGAAGCTGAAAACAGCATAGGCTGAGGCCATCCATGGTGGGGAAAGCCCAGGCTAAGTATGGGAAGAGGGAGTGAGGACAGAGGCTGAGCGGCTCTGGAGCTGAGTCAACAAACGAGCTACTAAAAATGACCAGAGATTAATGCAAGAATCAGAATCTGTGTCACAATCTCAGATCTGGCTGAAAGGCCTCGTTGGGGAAGCAGGACGAAGAGGCTAGGATGTATATGTCAGAGGTGGGTTACAAGGAGACCTCTGCCCTGCAGGGCTGACTCAGAAAAACCTAGGTTGCTGCTACTCTGAGCCCAGCCTGAGACAGAAATTTCCACTGTAGCTACCTGCAGTTGTAAATTTAGCTTACCGATCCAGAACTAGTCCTCAGTGACATTGTAAGGGTGGTTACATCTCCTTTTTGTTCTGTGAAAGGAAAATAAAAATCTCTGGGCCCCAAACTCATTAAGTCAAAGGGAAAAGCTTGGGAACTGAGTCATGCAAAGACTGCCTTCCTTTTGTTCCTAAGTAGATAGCTACAAAGATAAAAGGCCACAAACCTCCCTAGGGGACCTTCCACATGATTTGCCCATCAGGAAATTCCTTGTAGGTCCCTAGATCTTTAGCCTATAACAGTTCTGTTGAATTTCACCCTGACAATGTAAATTCACAGCTCATCTTCATAGGTAAAGGACAAAGACAGGACTAGATCCTCCCTCCACTCACTAGAGACAAATGCACGTTTGGCTGCTTCCTGTACCCTGTGATTACTTTATCTAATGTAAAACTGCAGATTCACTGAGACAAATGCATAATGGACTGGCCTTCTACCTCCTCCTTTCACATGTAAAATGTGCATTCAGTGAAAGCTGATCAAAGTCTCAAAAGAATGCAACTGCTCTCCTTTTATCTACCCGCCCATTTTTTCTTTCCTCTTTCCCCCACTGCCACTCTTTCTCCATTAAATATTGACATCTCCAGACCCTTTTTGGAAAAAGCGCAGATCACAGATGTTCCCATGGTTTTGTGTTCTTTATTCCCCCTGAGTGCGTCTTCAACCTTGGCAAAATAAACCTGAGTGCGTCTTCAACCTTGGCAAATAAACCTCTAAAATGATTGAGACTCACCTTGGTCATTTTCTTTGATTTAGAGTTCTTTTATACCTCTCATTATCCTCCCACCATTTTGGGCAAGCAGGCTCCACCGCCTTAAATTCTGTACTCTAAGGACATATTGTTTTTTTGTTTTTTTGTTTTTTTTTTTAAGACGCAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGTCAGGCCTGTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGCACGTACACATCCAGATGGCCCGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCTTGTTACTGCCTTAACTGATGACATTATCCTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCTACTGAGCACCTTGTGACCCCCACTCCTGCCAGCCAGAGAACAACCCCCTCCCTTTACTATAATTTTCCTTTACCTACCCAAATTTCCTCTTAAAGAAGTGGCTGGAGCTGAAGGCATAGTCAGGGTACATGTACCTTTTTCTCTATCAGACCTCACAGATCAGTCAGCGTTTAGGCTGTTTCTCATCAGACCCCACTAAACATATACAGGAATTCCGATATCTAACTCTGTCCTACAATTTAACCTGGAGTGACCTAAATGTCATCCTGACTTCTACCCTCTCCCCAGATGAAAGGGAAAGAGTTTTTTCTCTAGTCCACTCTCACGCTGATAACCACCGGCTTCATGAGCCAGACCTCCAGGAAGGCATCAGAGCAGTTCCCCAAGAGGATCCCCAATGGAACTATCAGGCAGATTCCCCAGGTATAGCTAGGCGAGATTACATGATTTCCTGCCTAGTTGAAGGGCTTAAAAAGGCAGCTTACAAAGCTGTTAATTATGACAAGCTTAAAGAAACTACCCAAGGTAAAGATGAAAACCCAGCCCAGTTCATGGCCTGCTTTGTAGCAACCCTTACACACTTTACCGCCCTAGACCCAGAAGGGCCAGAAGGCCGCCTTATTCTTAATATGCATTTTATCACCCAATCCGCTCCTGACATTAGGAAAAAACTTCAAAAATTAGAATCTGGCCCTCAAACCCCACAACAGGAATTAATCAACCTTGCCTTCAAGGTGTACAATAATAGAGAGGAGGCAGCCAGACGGCAACGCATTTCTGAGTTACAATTACTTGCCTCTGCCGTGAGACAAAACCCAGCCACACCTCCAGCACACAAGAACTTCAAAATGCCTAAGCCGCACACACCTAAGCCACAGCAGTCAAGCATTCTTACAAGACTTCCTCCATCAGGATCTTGTTTCAAGTGCCAGAAATCTGGCCACTAGGCCAAGGAATGCCCACAGCCCAGGATTGCTCCCAAGCCATCTGTGCAGGGACCCACTGGAAATCAGACTGCCCAGCTCATCCAGCAGCTACTCCTAGAGCCCCTGAAGCTCTAGCCCAAGGCTCTCTGACTGACTCCTTCCTAGATCTGCTCGGCTTAGCAGCTGAAGATTGACGCTGCCTGATCGCCTCGGGAGCCCCCGGACCATCACGGATGCCAAGCTTCAGATGACTCTCACGGTGGAGGGTAAGTCCATCCCCTGTTTAATCGATACGGGGGCTACCCACTCCACATTACCTTCTTTTCAAGGGACTGTTTCCCTTGCCCCCATAACTGTTGTGGGTATTGACGGCCAAGCTTCAAAACCCCTAAAACTCCCCCACTCTGGTGCCAACTTGGACAACACTCTTTTATGCACTCTTTTTTAGTTATCCCCACCTGCCCAGTTCCCTTATTAGGCCGAGATATTTTAACCAAATTATCTGCTTTCCTGACTATTCCTGGACTACAGCTGCATCTCATTGCCACCCTTCTTCCCAACCCAAAGCCTCCTTTGCGTCTTCCTCTCGTATCCCCCGACCTTAACCCACAAGTATAGGACATCTCTACCCCCTCCCTGGCAACCAATCACATGACCATCACCATCCTAGTAAAACCTAATCACCGTTACCCTGCTCAACACCAATATCCCATCCCACAGCACTTTTTAAAAGGATTAAAGCCTATTATCACTCGCCTGTTACAGTATGGGCTTCTAAAACCTACAAACTCTCCTTACAATTCCCCCATTTTACCTGTCCAAAAACCGGACAAGTCTTACAGATTAGTTCAGGATCTGCGCCTCATCAATCAAATTGTTTTGCCATCCATCCTGTGGTGCCCAACCCGTACACTCTTTCGTTCTCAATACCTTCCTCCACAACTCACTATTCCGTTCTTGATCTTAAAGATGCTTTTTTCACTATTCCCCTGCACCCCTCGTCCCAGCCTCTCTTTGCTTTCACCTGGACTGACCCTGGCACCCATCAGTCCCAGCAGCTTACCTGGGCTGTGCTGCCGCAAGGTTTCAGGGACAGCCTTCATTACTTCAGCCAAGCTGTTTCTCATGATTTACTTTCTTTCCACTCCCCCGCTTCTCACCTTATTCAATATATTGATGACCTTCTTCTTTGTAGCCCCTCCTTTGAATCTTCTCAACAAGACACCCTTCTGCTCCTTCAGCATTTATTCTCCAAAGGATATCTGGTATCCCCCTCCAAAGCTCGAATTTCTTCTCCATCTGTTACCTACCTTGGCATAATTCTTCATAAAAACACACTGCTCTCCCTGCCAATCATGTCCTACTGATCTCTCAAACCCCAACCCCTTCTACAAAACAGCAACTCCTTTCCTTCCTAGGCATGGTTGGATACTTTCAACTTTGGATACCTGGTTTTGCCATCCTACCAAAACCATTATATAAACTCACAAAAGGAAACCTAGTTGACCCCATAGATCTTAAATCCTTTTCCCACTCCTCTTTCCGTTCCTTGAAGACAGCTTTAGAGACTGCCCCCACTCTAGCTCTCCCTGACTCATCCCAACCCTTTTCATTACACACAGCCTAAGTGCAGGGCTGTGCAGTCGGAATTCTTACACAAGGACTGGGATCACGTCCTGCAGCCTTTTTGTCCAAACAACTTGACCTCAATGTTTTAGGCTGGCCATCATGTCTCCGTGCAGCGGCTCCTGCTGCCCTAATACTTTTAGAGGCCCTCAAAATCACAAACTATGCTCAACTCACTCTCTACAGCTCTCATAACTTCCAAAATCTATTTTCTTCCTCACACCTGACCATATACTTTCTGCTCCCCAGCTCCTTCAGCTATACTCACTCTGTTGAGTCTCCCACAGTTACCATTGTTCCTAGCCTGGACTTCAATCCGGCCTCCAACATTATTCCAGATACCACACCTGACCCTCATGACTGCCTCTCTGATCCACCTGACATTCACCCCATTTCCCCATATTTCCTTCTTCCCTGTTCCTCACCCTGATCACATTTGGTTTATTGATGGCGGTTCCACCAGGCCTAATCGCCACTCACCAGCAAAGGCAGGCTATGCAATAGTATCTTCCACATCTATCATTGAGGCTACCGCTCTGCCCCCCTCCACTACCTCTCAGCAAGCCGAACTAGTTGCCTTAACTCGGGCCCTCACTCTTGCAAAGGGACTACGCATTAATATTTATACTGACTCTAAATATGCCTTCCATATTCTGCACCACCATGCAGTTATATGGGCTGAAAGAGGTTTTCTCACTACGCAAGGTCCTGCATCATTAATGCCTCTTTAATAAAAACTCTGCTCATGGCCGCTTTACTTCCAAAGGAAGCTGGAGTCATTCACTGCAAGGGGCATCAAAAGGCGTCCGATTGAGAGGTGACAGCGTGCTGGCAGTCCTTACAGCCCTCGCTCGCTCTGGGCGCCTCCTCTGCCTGGGCTCCCACTTTGGCGGCACTTGAGGAGCCCTTCAGCCCGCCGCTGCACTGTGGGAGCCCCTTTGTGGGCTGGCCAAGGCCAGAGCTGGCTCTGTCAGCTTGCGGGGAGGTGTGGAGTGAGAGGCGCGAGCGGGAACCGGGGCTGTAGGCGGCGCTTGCGGGCCAGCTAGAGTTCCAGGTGGGCGTGGGCTTGGTGGGCCCCGCACTCGGAGCAGCCAGCCGGCCCTGCCGGCCCCAGGCAATGAGGGGCTTAGCACCAGGGCCAGCGGCTGCAGAGGGTGTACTGGGTCCCCCAGCAGTGCCAACCCACCGGCGCTATGCTCGATTTCTCACCGGGCCTTAGCTACCTCCCCGCGGGGCAGGGCTGTACCTGCAGCCCACCATGCCTGAGCCTCCCACCCTCTCCATGGGCTCCTGCGCGGCCCCAGCCTCCCCGATGAGCGCCGCCCCCTGCTCCACAGCACCCAGTCCCATCAACCACCCAAGGGCTGAGGAGTGCGGGCGCAGGGCGTGGGACTGGCAGGCAGCTCTACCTGCAGCCCCGGTACAGGATCCACTGGGTGAAGCCAGCTAGGCTCCTGAGTCTGGTGGGGACGTGGAGAACCTTTATGTCTAGCCCAGGGATTGCAAATACACCAATCGGCACTCTGTATCTAGCCCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTCTAGCTCACGGTTTGTGAATGCACCAATCAACACTGTATCTAGCTACTCTGGTGGGGCCTTGGAGAACCTTTGTGTCGACACTCTGTATCTAGTTAATCTGGTGGGGACGTGGAGAACCTTTGTCTAGCTCAGGGATTGTAAACGCACCAATCAGCACCCTGTCAAAACAGACCACTAGGCTCTACCAATCAGCAGGATGTGGGTGGGGCCAGATAAGAGAATAAAAGCAGGCTGCCTGAGCCAGCAGTGGTAACCCACGACAGTTCTCTTCCACGCCGTGGAAGCTTTATTTTTTCGCTCTTTGGGTCCACACTGTTTTTATTGAGCTGTAACACCATGAAGGTTTGTAGCTTCACTTAAGCCAGCGTAGACCATGAGCCCCCTGGGAGGAACAAACAACTCTGGATGCGCTGCCTTAAAGAGTTCTTAACACTCACTGTGAAGGTCTGCAGCTTCACTCCTGAGCTAGTGAGACGACGAACACATCCGTAACAGCAGAAACAAACTCTGGATGCACCACCTTAAGAGCTGTACCACTCACTTCGAGGGTCTGTGGCTTCATTCTTGAAGTCAGTGAGACCAAGAATCCACCAATTCCAGACACATAGATCCTATTGCTCTAGGCAACGCTTATGCTGATGAGGTGGCTAGACAAGCAGCTAGCATTCCAACTTCTGTCTGTCATGGCCAGTTTTTCCCCCTACACGTTGGTCACTCCCACTTACTCCCCCGCTGAAACTTCCACCATATCAATCTCTTCCCACACAAGGCAAATGGTTCTTAGGCCAAGGAAAATATCTCCTTCCAGCCTTACAGGCCCATTCTATTCTGTCATCATTTCATAACCTTCCATGTAGGTTACAAGCCGCTAGCCCGTCTCTCAGAACCTCTCGTTTCCTTTCCATCATGGAAATCTATCCTCAAGGAAATAACTTCTCAGTGTTCTATCTGCTATTCTACTCAGGGATTGTTCAGGCCCCCTCCCTTCCCTACACATCAAGCTCGGGGATTTGCCCCTGCCCAGGACTGGCAAATTGACTTTACTCACATACCCTGAGTCAGAAAACTAAAATACCTCTTGGTCTGGGTAGACACTTTCACTGGATGGGTAGAAGCCTTTCCCACAGGGTCTGAGAAGGCCACCGCGGTCATTTCTTCCCTTCTGTCAGACATAATTCCTCGGTTTGGCCTTCCCACCTCTATACAGTCTGATAACGGACCAGCCTTTATTAGTCAAATCACCCAAGCAGGTTTTCAGGCTCTTAGTATTCAGTGAAACCTTCGTATCCGTCACCGTCCTCAATCTTCAGGAAAGGTAGAACAGACTAATGGTCTTTTAAAAACAGAACTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTCACCACTTTCCCTTCTCAGAAGTCAGACCTGTCCTCGGAATGCTACAGGGTACAGCACATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAGGCCCCAGTCTCATTCCAGACACCAGACCAACTTGGACTGCACCCCAAAAAACTTGTCATCCCTACTATCTTCTGTCTAGTCATACTCCTATTCACCGTTCTCAACTACTCATAAATGCTCTGCTCTTGTTTACACTGCCCTTTTTCACTGTTTCTCCAAGCCATCACAGCTGATATCTCCTGGTGCTATCCCGAAACTGCCACTCTTAACTCCCTGTTAAAGTAAATAAATAATCTTTGCTGGCAGGACTATGCTGAACCTCCTTAGGCACTCTCTAATTGGATGTCCAGGGTCCTCCCAATTCTTAGTCCTTTAATACCTGTTTTTCTCCTTCTTATTCCGTTCTTTTTTCAATTCATATAAAACCGTATCCAGGCCATCACCAATAATTCTATACGACAAATGTTTCTTCTAACAACCACACAATATCACCCCTTACCACAAAATCTTCCTTCAGCTTAATCTCTCCCATGCTAGGTTCCCACGCCACCCCTAATCCCAGCCCTGAGAAACATCGCCCATTATCTCTCCATACCACCCCCAAAAATTTTCACCACCCCAACACTTTGCCACTATTTCATTTTATTTTTCTTATTAATATAAGAAGACAGGAATGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATATTCTGTGACCTGCACATACACATCCAGATGGCCGGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCCTGTTCCTGCCTTAACTCATGACATTATCTTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCCACTGAGCACCTTGTGACCCCCACTCCTGCCCACCAGAGAACAACACCCTTTGACTATAATTTTCCTTTACCTACCCAAATCCTATAAAACGGCCCCACCCCTATCTCCCTTTGCTGACTCACTTTTCGGACTCAGCCCGCCTGCACCCAGATGAAATAAACAACCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACGCGAGTGAAACTGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTCGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTTATAATTTTTTTTTTTTTTTTTTTTTAAGAGACAGTGCCCTGCTCTGTTATCCAGGAAGGAGTGTGGTGGCATGATCATGGATTACTGCAACTTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTAGCCCCAAGGAAATAATTTAATACCAATCAATGAAGGCCTTTTTCTGATGAAAAGCTCTTTCAAGAATGTTTACGTGGAGCCACAGACTTTTCCTGGTTGTAAAGAACCTAAAGGTTGTATATTTAAAAATTAAAAGATATTCCAGCTGGGTGTGGTGGCTCATGCCTGTAATGCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCTGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGATCGAGACTCAGTCTCGGAAAAAAAAAAAAAAAAAAAAATTAAAAGATAGTCCAAGATTATCATGGCTTCTCTATGCAGAATCCCTGATGGGAAGTTATACAGCCTATCCCTGAACACCTCCCTTGACAAGGTGCTCCTACAGAGCCAGTGATTGCACACATATGTGACAAGTAATTTACATGTGCATTTCATTTAATCCTCATAATAATTGCCTTCTGAAGTGGCTACCATGATCACCATTTTTTGGACAAAGAAGGTATGGCTCAGAGAGATTAAAATCCTTGCCCAAGGCCATACAACTAGGAAGGAAAAAAAATAACTTACTTTAGGAACACAGGTTCATCTGTTCCAGAGGCTGTGCTGTTTCCACTCTGGGGTAGGCAGGACTCTAAGGTGGCCCAAGATTCACCTGGCTCGTGGTATATACTGTTGGCAAAATGAGTCAAACTCTGTAAAATATTCGAAGAGGTTTATTCTGAGCCAAATATGAGTGACTAATGGCCCATGATACCGTCCTCAGGAGGTCTTGAGAACATGGGCCCAAGGTGGTCAGGGTCCAGTTTGCTTTTATACATTTTAGGGACACAGAAGGCGTCGATCAATACATATAAGATATACATTGGTTTGGTCTGGAAGGGTAGGACAACTGGAAGGAGGGGGGCTTCCAAGTCATAGATAGATTCAAAGGTTTTCTGACTGACAATATGTAGAAAGAGTTATCAATAGAATGCCTGGGTTATGATAAGGGATTGTGGAGACCAAGGTTTTGTCATGCAGATGAAGCCTTCAGGTAGCAGGCTTCAGAGAGAATAGATTGTAAACGTTTCTCATCAGACTTTAAGAGTCTGTTCTATCAGCATTTCCAAACGGGAGGAGGGAATGCAGAGACATGTCCAGCTCCCACTTCCCATCATTGCCTGAATGAGTTTTTCAGGTTAACTTTGAATGACCTTGGCTGAGAGGAGGGTTCCATTCAGATGGTTGGGGGGGCCTTAGAATTTTATTTTTGTTTTACAACACTCACCTTTTCCCGGTTGTTCAATCAAGCATAAATCTAGGTACTGCTGTGACAGGATTTTGCAGGTGCAATTAAGTTTCCAAGTCAGTTGACCTTAAGATAGAGAGATGATCTCATTGGCCTCCCCTAATCACATGAGCCCTTTTGAAGAAGAAGATTTCTCCACCCATTGACAGACAGGATATTCGAGTTTGGAAGCAGTAGAGACCCCCTCCTGATGACCTTGAAGGATCCGATAGCCTGCTATGGAGAGGGCCATGTGGCAGGGAACAGAAGGCAGCCCCCAGGAGCAGGAAGCAGCCTCTGCTCAAAGGCCAGCAAGAAAACGGGAACCTCGGCCTATGACCGTGAGGACCTGGCCCCTGCTGAGCACGTGAGCAAGCATGGGAGAGGCCCCTGAGCTCCTGATGAGTGCAGCCCTCCCAGACCTGCTGGACTCCCAAGCAACGGAAACTGTAAGGTGATCCTGGTGCGTTAAGCTGCTGACTTTGTGGTAACCTGTTAAAATAGCAAACTGGTAGACGAGTTCTTCTTTGATGAGTGATGTAGGTCAGGTGCCCCAAAGCACGCCTTGAGGCTAGGATCTGAGTGGAAGGTGATGAGGGCAGTGTCTGTCCTGGGAAGCGTTGGAAGTGCTGTGGGGAACAGAGCCAGGAAAGAGAAGGAAGCCAAGGGGCTGCCTCAGAACAGGTCACTGCTGCAGGTGGCAAGGGTTCAACCCAGGGGCATCTGTCAGAGACCAGGCAGAACTTCACTCTGCGTCGCCCCACCTGAGTGGAGGGGAGCTGGCTACTTAGCCTCCAGAAAGAGGTTTACCTTGCTGCACAAGTGACCCCTGGGGCAGGTCACAGTTTTTTTCAGTAAGAAGCCATCAGCAGGTCTGAGAAAAACAATGGCCAAAGGCACAGGGTGGGTCCAACAGTGTCTGCTACAAAGAATTTTGATGGGAAAGTCCTTGTATCCACTGACAGTGGCCTTCAGCCATTGGACCTGCTGTGTCCCCTTAGCTGACCCGTCTGTCTTCTGCAGCTGCCATTCAGATTCCTGTCATTTTCATGCTGCAGCAGTGCTCTCCTCACTAGCTAAGCATTTCTAGTCCCTCTCTGGACCCACCATGAAGCAGGATTTTAAATACTTTGTAATCTAGAGAGGCACTGGACTCAGAGCTGAATGCAAAGGCCAGAGATGCTCTCACTCATTTAGTTGTTCTTGTCTGAAGGCTGGGATGATGCAGGTCTGATTACGTCACCGCTGGAGAGCCTCATCACACTGGTGACTCACAGGAAGCTGTCCTGGTTCTTTGTGCAGCTGCTGAAGAACATTTCACTTTCCCCGCCCCACTCCTCTCAGTGTATGGATGCTAGGCAAGGGCATGTCACCTGCGGGGTGAGCTCGGGCACCATGAGCGCCCGGTACTGCTGGCTGCCCCAGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTACGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGAGTTCATGATGCGGTCTGGGTACTCTTC	-	novel	.	TCGA-DD-A4NP-01	TCGA-DD-A4NP-11	CCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAAGACAGTGCCCGAGCAAGGGAATTTATCTAACACCCTTGCCTGTACGACCCAAAGGGACGCCTCTGTTACATCTGCCAGTCCAGTGACACTGCATGTTTTCATTCAAACCGTAGAGAAAAATATACAAATTAAATTCACATGAAGCTAGCGCAATAAATATGACCGTACCCCCGACCCAAGTTTCTGAGACAAATACACCCAGGGGAATGCCAACCGCGTCCCGCAGAAGGGCTGTGTCCCAGGGAAATCGAAAGGCCCCCGATTAAACGCACACACAGCTGCGGCGCTGCGGGCATCCTGGCGGGTCATGCAGCCTCCCGGACCCCGCCCGGCGGCCTCGCCGCGGAATGTGCCACCCGGCCAGCCCGGGGCCGCCGCGGCCTCCAGCCCCCGCCCCGGCCCCAGCCCGCACCCTCGGTCCCAACCCCGGGCCCCTCCGTGGCGGTGAGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCGCGCATGGTGCCGGCTGCGGAGCGGGTGGCGCTGGCCCTCGGAGCGGTGCGCGGCGTGGACCGGCGGGCTGGGCTGCGCAGAGACCTGCCGCCGCCCCCCCAGCTCGGTCTTTTATACCCGGGGACCCGCCCTGCCCGGTGACGTCATGACGGGCGGGGCTGTGGCCGCGGGGGCGGTGCGGCTGGGACTGCGGCACCGCGAGGGGGAGCCGGGGCGCGGTGCGAGGTGTGGGGGCGCTCGCCCTATTGCTGCTGCCGCTGGGTCTAGGGTGGGCGGCCGGCCTCGCGGTCCGGCGGTGAGTGCGGTGCCCGGGCCTCGGGCCCAGCCGCAGCCCCCTGCCCGATCCACGGGCACGGGCGACCCCTGGCGCTGGGTCCTCCGCTCACGCCGCGATCCCCACCCCGAGCCGCCCACTCTGGACCCCCGAGGGGGGCTGGGGACCGGGGGCCCCGGAACCAGGGGGAGGGGCTGCCTCGGAACAGGGTCCTCGCCTCCTAAGGACGGGAAGAGGCGTCGAGTACCCTTTGGAGTAGGGGGCCGGAAATTGAAGACCCATTTGCAGTGGGCTCTCCAGCGGGTGGCAAAGGTTTCCCGCATCCTGGGCAGGGTCCTGGACGCCGTTTGTGGGGGTGGGGTGGGCAGCGTGGAGAGGAGTGGGGGGCCGCGGGGAGCCGACGGGCAGCTGCCTGAAAGGAATGCCAGGATGGCGGGGTGGGCGGCCTTTCGCCCCTGCAGGGGAGGAAGATGGCTTGGTCGGGGGCGGGGGTTGGGGGGGCTATCAAAGGGCTGGATTTGTCACATGTCCGCTTTGGGCTCCTGCGTCCTTGTAAAGGCCTTTTAAATGTGGAAAATTCTGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGGAAAGACAGGAGGAATATATCTGCCACGTTGATGTGTCAGCTGATGGCCCTGCCCCTTACACCCCTTAGGTCGCCTGATCCTCACAGAAGCTGTCGGAGCTAGGCTGGCCAGTTCGGTAGACCCTAGGCACGGTGGCTGCCGAGCATTGAAACGTAGGTAATCTGAACTGAGATGGGCTGTTAAGTGTGAAGAACACACTGGCTTTTATGGGCTCAGTAAGTTAAAATAATGTGAAATATTTCATTACTGATTCTTAAATATTGATGGTCTATCAAAATAATAGTGTTTTGGATACATTGTGTTAAATGACTTGTTTTGAAATTAGAAAATGTAAAATTACATACTTGGTTTCCATTTGCTGCTCACTTACGCATATTTTTGTTGACTACCACCGGCTTCTGGTAAGCATTATTACTACCCCAATTTCATAGCTCCGAAAGCGAGGTTGAAAGACCTGACCAGCCACAAAGCTAGGAAGGGAAGGAATCTAAAGCCTTTGTATAAATAAAAAGCCCAGGTGAGTTTTAAAGGCTTGGGTGGGCTGTGGTAAGGACCTGACTTAATTATTCACAAAGATGGCCCTGCACGGTGGACTAGGTAACAGGGGCTTGGGGACTGCCTTTGGTTCCCAGCACATTCCAACTATATAATGATGATAATTACAGGTGCCTTGGAGCTGGCTTTGTGGTAGGAGATGAGAAGCCATATATGAAAGCACATTGAGTTTATGGAGTAAAAATGCCTTGGTAAAACCCAAGGTGATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTTAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGAGCCTGGTGGCAGGCATCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCCAGGCGACAGAGCCAGACTGCGTCTCAATAAAAAACAACAACAAAAAACCCAAGATGATGCTGTCATTCCTAATGTGCACCCTACCTGCCACCTCAATAGTTGGTCTGTATCGGAGGTGGAAACTAAAGCCAGATGTCTGTGAGTAGCCTCTTAGGCCAAGTTAGGTCTTAATCACCCCAGCTTTAGGAAGCGCCCAGCATCCTCCCAGATGTAGGTAGGCAGGTGCCTAGTGCCTCTTCTCAGGGTGGGGACAGATTTCCTAGAATTTCTCCTCCTCTCTCCCCTCTCCCTGCTGCTGGGCCCCCAGTGGACAACCTGTCCCTCGGATGCTACTCCCAGGTACCCAGGGCTTGACCTCCACCTTCTCCCCACCCCCACCCCAACTCTCACATCTTGGCTCTTCACCACAGCCGGAGCCTTCCAGATCCTCTCCAGAGAATGGCTCTCCTTGGGGTACCTTCACTCATTACACAGTTCTGAAAAGATTTTTCCAGAGATAATTGCTTCTTGGCCTTTGTGTTTTAATTCAGCGTGAAATCTGAGGCCAAATAGGAGCAGAGGATGAGACCTGAAAGGGACAGCACTAGGGACACGGGGACCCCTAGCAGCTGGGCGTTTCCCGGCCTGTGGAGCATGTGCCCACTCTGCTGTTCCTAGCTCAGTCCTCCAGCAAGTCACTGCACCTCTCTGAGCTTCTCTGGAAATGGGTTTTTCTTACGTTGGGGAGCTGGGAGGCACTGTGCGTGAACTGGACATTAGTGAGCGCACAGAAAATAAATCCATGGCAGTGTTCACGGGCGCAGGCCAGGTACCTGATTGTCTGCTCTGGATCGCTGGCAGTGAATGTTCTGCCCAAGTCGGCCTTCTCCTGCCTGGCAGTTCACGCCCAGCCTACTTCTCTCTGACGCGCTCCTCCCTCGGTGCCGCCCGTGATGTGTGTTAGTATATAATCAGAGAAACTCACACGCGGAGTTTTAAATAATGCCTGCCCTGCCTAAGGTGACTCATCTGAGGCCGTGAGTTCCTGCTCTCCCCTCCCTCGCGGCAAGTGTAGATATCCCCAACCCCACCTCGCTGTCACTAAGCAACTCGACCTTGTACAGCACCGATGCAGATAATAACAGGAGGAAATAGAGCCTGCTAATTGTCCCCTTCCCTAGAATAGGTTTTTAAGGAGCAATCTCTCCCCTTTCATGTATTTTTCAGTGTCTAAAGAGGAGCAGCTCCACCGGCTGTTGGGTGGGCCGGGGATGGGGAAGGGGAAGAGGACCAACCTCCTCCAGCCTCAAGTCACTTCCTGCTTTAGACAGGATGCCACTCGCAGTGTCTGAGCCACCCCTACCCTGAAGGCATCATTGGCGGGGTGAGGGGCGGGGGGCGGGGAAGGGCAGGTGTAATGACAAAATTCAGACTAGAGAATGTGTTCCAGGTAGGAGGCTGAGCCACATCTGTCTTTCACAAAAGGACATAAGCTCTTACCCTTTTGCCTGCCCTTCCCGCCTGCTGCTTCAGAGGGCCCAACGAGAAGGGTCCTGGTGAGAATGTTCTAGTGAAACGTACCCTGTGAATATGTGGTGTTATGATGATATCGTTACTGTTCACTGATGCCATCTCTAAGGGTGACAGTCGTGATCTAGTTGAAATAGATTTAGTTGGTCCAAGTAAGAGAGTCCTGGAACTTCAAAAACACTAGTTTCCTCTGCAGAATGATGAAAACCCAAGGACCATCCCAGCAATACAATTGTCTAAATTTGTATGGTACAGTCTTGCATCCTGTTTGTGCCCTCAGAGAACTAGCCACACTCTCCGCTCCAACTTCTCTTTCCCATGAAACTCATCCAGTGCAGCCCCTGTCTGCTATTTTTTAAATAAAAGCATCTCTTTATGAAGATGGAAGAATTTTGTTCAAAGCATTTAAGGGGATGTAACCTTTTCAAAAGGTTACCTAAAATAAAAGTCTGAACTCCAATTAAATTTAATTTTAAAATATCAACCCCACCAAAGTTTACAATTTTTTTTTTTTTTTGCATCAGATGACTATAATAATACAGAGTAAATATATAGAAGATTTTTAGCCACTTTCTGGAATGGGCCATGCCCCAGAATGTGACATTCATATTACAAGTGTCGATCTGGGGCCTTTCAAAACTGAAGATGTCATTTTTTGTTTTTTTTTGAAATGGAGTCTCGACTAGGCTGGAGTGCAGTGGCATGATCTTCGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGCGATCCTCTCGCTTTAGCCTGCCGAGTACCTGGGATTACAGGCGTGCACCACCATGCCTGATTAATTTTTGTATTTTTAGTAGAGGCAGCGTTTCACCATGTTGGCCAGGCTGGTCTCAAAGATGTTATTCTTGATGTCAAATTCTCATTAAGCTATAACCCCCCAAGTTTTTTTTAAATACATACAATGTACACAGCAATTATATATACATATATCTTATATACATATTTCCTGATTATAAAATTAGAAACACTTAGAAAGTACTAAAGAGCACAAGTGTATCCCCTGTTCTCGAGATTTTTTTAAATGCTTGATGTATTATATTCCTTTGTGTTTTTCCTATTCATGGGCTGTTTAGGTGTTTTTGTTCCTTTATAACTTTTTTTTTTTTGCCTTCAACATTAAGAGTGAAGAAATACTATATCTTCTTCTGCTATGACTTAGACATAATCTCACAAATTCTCAAAAATATGTAACCTACTCCCAACTGTCATTCTCCCCATAATCTGAGGTGTCCAGAGCATACCGAATTATCTACAGAGCAAACTCATCTCTGCTTCCCATGACTAAGGCCGTTTAGAGGACTCAGTGCCCTCCTGCCGCGTTCCCTGACTGTTGAAAAGCACAGGGCCTAGAGTTGATGGACTGGGTGCAAATCCTCACTGTCACTTCTTAGCTGTGTGACCTCGGCAAGTTACTTAACCTCTCTCTGCCTTAGTTGCCTCATCTGTAAAGTGACAGTAATAATAGTACCCGCTTCCTGGGGTTGTGATAAAGACTGAATGAATATGTGAAAGCACTCACAATACCACCTGCCCCACAGTGTTATATAAATATTAGCTATTATAACGGGTTAATCCCGTCCTCCCCCCACTCCCTCCCTCCCTCCCTTTTTTTCTCCCTCCTTCCCCTCCCTCCCTGGAGCTCTTCTGGAATCAGGACTCAACTCCAGAGCCACTTGCGAGGCTCCCATGCGGCGAGACTGCGGTCTCCGCTGGCCGCACGCTCTTCTGCATACAGCTCCGCACTACACTCCTCTCCCCTAATCCCGAGGCTGGCGCTGCAGAGTGAGCGAGCGCAGGATCGCTAAGCGCGAGCCGAGGCGCCATCGGAACACTCTTGCCCCCACCCAGACGTCGAGTCTGCAGGTCCAGGGCAGAGGGCGCTGGGCGGCGCCGGGAGGCGCGAGGCACCCGGGAGAGCCGGCTCCGTGGCTTCCTACTACCTGACCCCCTGACCACCTAGTTCTGGAGCCAGGCTTCTTCACCCTTCGCCAGGTCTGGGCTGCCAGGGACTCGGGGTGGGGCCGCCACGCTGCCTTCTCCTTCCGTCCGGAGCGCCGGGGCGCGCGACCCGCTCCGTTTCACGCTCTAGGCAAACGGTAGTTCGGGAAAGGCTGAGCTTCGCCCCCTCCCCGCGGTGAGAGCGCGGCGCGGCGGGGCGGGGCCTCCTGCGGGCGGGAGAGGCACCGGGGTCCAGGGGCCGCGGCGCAGGGGGAGGGCGGGGCTGTGCCCCCCGGAGGCCCTGCCCGCCCCGCCCCGCCCCGCCCCGCCCCAAGACCCGGGTTCCCCCTGGAGGCCGCCACCGCCCGTCCCTGCCCGTCGCCGGCAAGGCCTGAGCCTCTGTCTCAAGATCGGACGGCCTTTGCAGCGGGAGCACCAACCAACCCCACAAATTCATGAAATACTAGGCGGGAGATGCGCTCAAAATAGGACGTGCCTTTTGTTTTTTGTAGCTATAAGAGAATATCGAAGTACTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCGGTGGCGCAATTTGGGCTCACTGCAACCTCCGTCTCCGCCTAACAGCCCTGTCGTACAAAAATAACAATAGGGAACATCTGAATAGGGGGTGGGCTAATTTTGTTAAATTTACTTTTTGATGCCCCCACGTTTTGTTGCTAGTGTTAATGAAATGCCACCAATGGCTGGCTTAAATGTAGTGCTGCCAATGTATATATTCTGTGTCTCTTCTCAGTTAGGAAGAACATTTGTTACTTCCACTACCTAAAGTTTGCCCGGCATGGTCAGTTTTACCAGTAGTCACCACAAGCACACTGCTAATTAGTTTTCCAGACCTAAGGAAACGTTTGAGATCAGGATTGGGATGTGGGGGGTGTAGGGGGAGTAATGACCCCAAAATAAAAGGAAAATTGCAATAGTAAAATGAATGTTTATTTAAATGTCTACAGAATATATCATGTCAATTAGTCAAAGACAACTCAACTTTTATATTGTAATGTATAAATTATACTTAATGTAAAAAGTTAAAATAGAAAATGAAACATATCTAATATGATATGGGACAGTTCCTCCAAAAGAGTGCCAGCGACCTCCAGAGCTCGAGCTGGCTCCATTCATCACCCACTTTTAGTATCATTTTCTGGTTATCAAGAAATGAGTAGAAGTTTTTTTTGAGACCGAGTCTCACTGTGACCCCCAGGCTGGTACAATGGCTCGATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCCCACCCAGAATTTTTTTAATAACTGAAAGAAAGAAGGAGATTAAGGAAGATGGAGACAAATATGCAGGAGAAACACCCTCTGAGGGCGATTTAACAGAGCAGCGAATGTGGAAAGGGGAAGGGGAGGTGCTTCTTGGGTGCCCAGTTTCCTTGGGAGGAACTTGGGTACGTGGTCAGGGGTTGTGGGCAGTTATTCCCCTCGCTGGCCCTCAGGGGGCTCACAGGCCAAGAGCAGCTTGGTTGTCGTACATGGGTTAGGGGAAGACGGGAGAGTTAGGGTGCATGATAAGATAGAGAGGCAATGTGCAACTGGATATTTCTATGTACTTGGCCTTTCAAAATTCAAAATTTGTTAACTCATGAATACTTGTATACTGACATAATGTACAGATGCCATTTAAGGTTGGATAGTTTTGTAATTAATGAGGCATTATGGATCTCATTGAGAAGCCAATACTGACTCTGTGAGTGAAAAAACACAAATCGTTTTTCCTCTGTTCTCACAGCACAAAAGCCAACACAGAAGACTTCTGTGACCCAACGTGTAGGGGTGTTTCCCCATACACCAAGCAGGAAATCAATTCTGCCATAGACACCAGCTGGGTGTCCTCAACTTCCATTCCATTCTGACACCATCTACCAGCAGATAATGTCAGATCCCACAGGCTGAGGGCTCAGTCCCCCAGGCTCTCCCCACCACCTTCAGATGCCAACTGCAAGTGCCAGGCTGTCTTACCTGTGCCTCTGACCAACTGGCCATAAATCCGGGATTCCAGGGTCTCCTCCTTGGGTTCAATTAATTTGCCAGAGCAGCTCACAGAACTCAGGGAAATGCTTACTTACATTTCCCAGTTTATTATAAAGGCTATTACAAAGGTTACAGATGAAGAGGTGCCTAGAGTGAGGTATGGGCAAGGGGTCCATGCCCTCCCAGGACATGCCCCACCCCCAGTAGCCTCTATATGTTCCGTTACCTAAAGGTCTCCAAACCTGGTCCTTTTGGGTTAGTTTTTTATGGAGGCTTCATTTTGTAGGCCTGATTAATTAAATCATTGGCCACTGGTGATCAACTTAACCTTCAGGCCCTCTCCTCTCCAGGGAGGTTAGGGGATGGGGCTGAAAGTCCCAACCCTCTAATCATGCCTTGTTCTTTCCAGTGACCAGCCCCATCCTGAAGCTACCTAGGGGCTGCCAGCCACCAGCTGATTCATTAGCATAAAAAAGACATCACTTTGGAGATTTTAAGAATTTTAGGAGTTGTATGCCAAAAAACGAGGTTGAACATATACTTCACAATATCACAGTGACCTTGGAGAAATGAAGCTGAAAACAGCATAGGCTGAGGCCATCCATGGTGGGGAAAGCCCAGGCTAAGTATGGGAAGAGGGAGTGAGGACAGAGGCTGAGCGGCTCTGGAGCTGAGTCAACAAACGAGCTACTAAAAATGACCAGAGATTAATGCAAGAATCAGAATCTGTGTCACAATCTCAGATCTGGCTGAAAGGCCTCGTTGGGGAAGCAGGACGAAGAGGCTAGGATGTATATGTCAGAGGTGGGTTACAAGGAGACCTCTGCCCTGCAGGGCTGACTCAGAAAAACCTAGGTTGCTGCTACTCTGAGCCCAGCCTGAGACAGAAATTTCCACTGTAGCTACCTGCAGTTGTAAATTTAGCTTACCGATCCAGAACTAGTCCTCAGTGACATTGTAAGGGTGGTTACATCTCCTTTTTGTTCTGTGAAAGGAAAATAAAAATCTCTGGGCCCCAAACTCATTAAGTCAAAGGGAAAAGCTTGGGAACTGAGTCATGCAAAGACTGCCTTCCTTTTGTTCCTAAGTAGATAGCTACAAAGATAAAAGGCCACAAACCTCCCTAGGGGACCTTCCACATGATTTGCCCATCAGGAAATTCCTTGTAGGTCCCTAGATCTTTAGCCTATAACAGTTCTGTTGAATTTCACCCTGACAATGTAAATTCACAGCTCATCTTCATAGGTAAAGGACAAAGACAGGACTAGATCCTCCCTCCACTCACTAGAGACAAATGCACGTTTGGCTGCTTCCTGTACCCTGTGATTACTTTATCTAATGTAAAACTGCAGATTCACTGAGACAAATGCATAATGGACTGGCCTTCTACCTCCTCCTTTCACATGTAAAATGTGCATTCAGTGAAAGCTGATCAAAGTCTCAAAAGAATGCAACTGCTCTCCTTTTATCTACCCGCCCATTTTTTCTTTCCTCTTTCCCCCACTGCCACTCTTTCTCCATTAAATATTGACATCTCCAGACCCTTTTTGGAAAAAGCGCAGATCACAGATGTTCCCATGGTTTTGTGTTCTTTATTCCCCCTGAGTGCGTCTTCAACCTTGGCAAAATAAACCTGAGTGCGTCTTCAACCTTGGCAAATAAACCTCTAAAATGATTGAGACTCACCTTGGTCATTTTCTTTGATTTAGAGTTCTTTTATACCTCTCATTATCCTCCCACCATTTTGGGCAAGCAGGCTCCACCGCCTTAAATTCTGTACTCTAAGGACATATTGTTTTTTTGTTTTTTTGTTTTTTTTTTTAAGACGCAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGTCAGGCCTGTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGCACGTACACATCCAGATGGCCCGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCTTGTTACTGCCTTAACTGATGACATTATCCTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCTACTGAGCACCTTGTGACCCCCACTCCTGCCAGCCAGAGAACAACCCCCTCCCTTTACTATAATTTTCCTTTACCTACCCAAATTTCCTCTTAAAGAAGTGGCTGGAGCTGAAGGCATAGTCAGGGTACATGTACCTTTTTCTCTATCAGACCTCACAGATCAGTCAGCGTTTAGGCTGTTTCTCATCAGACCCCACTAAACATATACAGGAATTCCGATATCTAACTCTGTCCTACAATTTAACCTGGAGTGACCTAAATGTCATCCTGACTTCTACCCTCTCCCCAGATGAAAGGGAAAGAGTTTTTTCTCTAGTCCACTCTCACGCTGATAACCACCGGCTTCATGAGCCAGACCTCCAGGAAGGCATCAGAGCAGTTCCCCAAGAGGATCCCCAATGGAACTATCAGGCAGATTCCCCAGGTATAGCTAGGCGAGATTACATGATTTCCTGCCTAGTTGAAGGGCTTAAAAAGGCAGCTTACAAAGCTGTTAATTATGACAAGCTTAAAGAAACTACCCAAGGTAAAGATGAAAACCCAGCCCAGTTCATGGCCTGCTTTGTAGCAACCCTTACACACTTTACCGCCCTAGACCCAGAAGGGCCAGAAGGCCGCCTTATTCTTAATATGCATTTTATCACCCAATCCGCTCCTGACATTAGGAAAAAACTTCAAAAATTAGAATCTGGCCCTCAAACCCCACAACAGGAATTAATCAACCTTGCCTTCAAGGTGTACAATAATAGAGAGGAGGCAGCCAGACGGCAACGCATTTCTGAGTTACAATTACTTGCCTCTGCCGTGAGACAAAACCCAGCCACACCTCCAGCACACAAGAACTTCAAAATGCCTAAGCCGCACACACCTAAGCCACAGCAGTCAAGCATTCTTACAAGACTTCCTCCATCAGGATCTTGTTTCAAGTGCCAGAAATCTGGCCACTAGGCCAAGGAATGCCCACAGCCCAGGATTGCTCCCAAGCCATCTGTGCAGGGACCCACTGGAAATCAGACTGCCCAGCTCATCCAGCAGCTACTCCTAGAGCCCCTGAAGCTCTAGCCCAAGGCTCTCTGACTGACTCCTTCCTAGATCTGCTCGGCTTAGCAGCTGAAGATTGACGCTGCCTGATCGCCTCGGGAGCCCCCGGACCATCACGGATGCCAAGCTTCAGATGACTCTCACGGTGGAGGGTAAGTCCATCCCCTGTTTAATCGATACGGGGGCTACCCACTCCACATTACCTTCTTTTCAAGGGACTGTTTCCCTTGCCCCCATAACTGTTGTGGGTATTGACGGCCAAGCTTCAAAACCCCTAAAACTCCCCCACTCTGGTGCCAACTTGGACAACACTCTTTTATGCACTCTTTTTTAGTTATCCCCACCTGCCCAGTTCCCTTATTAGGCCGAGATATTTTAACCAAATTATCTGCTTTCCTGACTATTCCTGGACTACAGCTGCATCTCATTGCCACCCTTCTTCCCAACCCAAAGCCTCCTTTGCGTCTTCCTCTCGTATCCCCCGACCTTAACCCACAAGTATAGGACATCTCTACCCCCTCCCTGGCAACCAATCACATGACCATCACCATCCTAGTAAAACCTAATCACCGTTACCCTGCTCAACACCAATATCCCATCCCACAGCACTTTTTAAAAGGATTAAAGCCTATTATCACTCGCCTGTTACAGTATGGGCTTCTAAAACCTACAAACTCTCCTTACAATTCCCCCATTTTACCTGTCCAAAAACCGGACAAGTCTTACAGATTAGTTCAGGATCTGCGCCTCATCAATCAAATTGTTTTGCCATCCATCCTGTGGTGCCCAACCCGTACACTCTTTCGTTCTCAATACCTTCCTCCACAACTCACTATTCCGTTCTTGATCTTAAAGATGCTTTTTTCACTATTCCCCTGCACCCCTCGTCCCAGCCTCTCTTTGCTTTCACCTGGACTGACCCTGGCACCCATCAGTCCCAGCAGCTTACCTGGGCTGTGCTGCCGCAAGGTTTCAGGGACAGCCTTCATTACTTCAGCCAAGCTGTTTCTCATGATTTACTTTCTTTCCACTCCCCCGCTTCTCACCTTATTCAATATATTGATGACCTTCTTCTTTGTAGCCCCTCCTTTGAATCTTCTCAACAAGACACCCTTCTGCTCCTTCAGCATTTATTCTCCAAAGGATATCTGGTATCCCCCTCCAAAGCTCGAATTTCTTCTCCATCTGTTACCTACCTTGGCATAATTCTTCATAAAAACACACTGCTCTCCCTGCCAATCATGTCCTACTGATCTCTCAAACCCCAACCCCTTCTACAAAACAGCAACTCCTTTCCTTCCTAGGCATGGTTGGATACTTTCAACTTTGGATACCTGGTTTTGCCATCCTACCAAAACCATTATATAAACTCACAAAAGGAAACCTAGTTGACCCCATAGATCTTAAATCCTTTTCCCACTCCTCTTTCCGTTCCTTGAAGACAGCTTTAGAGACTGCCCCCACTCTAGCTCTCCCTGACTCATCCCAACCCTTTTCATTACACACAGCCTAAGTGCAGGGCTGTGCAGTCGGAATTCTTACACAAGGACTGGGATCACGTCCTGCAGCCTTTTTGTCCAAACAACTTGACCTCAATGTTTTAGGCTGGCCATCATGTCTCCGTGCAGCGGCTCCTGCTGCCCTAATACTTTTAGAGGCCCTCAAAATCACAAACTATGCTCAACTCACTCTCTACAGCTCTCATAACTTCCAAAATCTATTTTCTTCCTCACACCTGACCATATACTTTCTGCTCCCCAGCTCCTTCAGCTATACTCACTCTGTTGAGTCTCCCACAGTTACCATTGTTCCTAGCCTGGACTTCAATCCGGCCTCCAACATTATTCCAGATACCACACCTGACCCTCATGACTGCCTCTCTGATCCACCTGACATTCACCCCATTTCCCCATATTTCCTTCTTCCCTGTTCCTCACCCTGATCACATTTGGTTTATTGATGGCGGTTCCACCAGGCCTAATCGCCACTCACCAGCAAAGGCAGGCTATGCAATAGTATCTTCCACATCTATCATTGAGGCTACCGCTCTGCCCCCCTCCACTACCTCTCAGCAAGCCGAACTAGTTGCCTTAACTCGGGCCCTCACTCTTGCAAAGGGACTACGCATTAATATTTATACTGACTCTAAATATGCCTTCCATATTCTGCACCACCATGCAGTTATATGGGCTGAAAGAGGTTTTCTCACTACGCAAGGTCCTGCATCATTAATGCCTCTTTAATAAAAACTCTGCTCATGGCCGCTTTACTTCCAAAGGAAGCTGGAGTCATTCACTGCAAGGGGCATCAAAAGGCGTCCGATTGAGAGGTGACAGCGTGCTGGCAGTCCTTACAGCCCTCGCTCGCTCTGGGCGCCTCCTCTGCCTGGGCTCCCACTTTGGCGGCACTTGAGGAGCCCTTCAGCCCGCCGCTGCACTGTGGGAGCCCCTTTGTGGGCTGGCCAAGGCCAGAGCTGGCTCTGTCAGCTTGCGGGGAGGTGTGGAGTGAGAGGCGCGAGCGGGAACCGGGGCTGTAGGCGGCGCTTGCGGGCCAGCTAGAGTTCCAGGTGGGCGTGGGCTTGGTGGGCCCCGCACTCGGAGCAGCCAGCCGGCCCTGCCGGCCCCAGGCAATGAGGGGCTTAGCACCAGGGCCAGCGGCTGCAGAGGGTGTACTGGGTCCCCCAGCAGTGCCAACCCACCGGCGCTATGCTCGATTTCTCACCGGGCCTTAGCTACCTCCCCGCGGGGCAGGGCTGTACCTGCAGCCCACCATGCCTGAGCCTCCCACCCTCTCCATGGGCTCCTGCGCGGCCCCAGCCTCCCCGATGAGCGCCGCCCCCTGCTCCACAGCACCCAGTCCCATCAACCACCCAAGGGCTGAGGAGTGCGGGCGCAGGGCGTGGGACTGGCAGGCAGCTCTACCTGCAGCCCCGGTACAGGATCCACTGGGTGAAGCCAGCTAGGCTCCTGAGTCTGGTGGGGACGTGGAGAACCTTTATGTCTAGCCCAGGGATTGCAAATACACCAATCGGCACTCTGTATCTAGCCCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTCTAGCTCACGGTTTGTGAATGCACCAATCAACACTGTATCTAGCTACTCTGGTGGGGCCTTGGAGAACCTTTGTGTCGACACTCTGTATCTAGTTAATCTGGTGGGGACGTGGAGAACCTTTGTCTAGCTCAGGGATTGTAAACGCACCAATCAGCACCCTGTCAAAACAGACCACTAGGCTCTACCAATCAGCAGGATGTGGGTGGGGCCAGATAAGAGAATAAAAGCAGGCTGCCTGAGCCAGCAGTGGTAACCCACGACAGTTCTCTTCCACGCCGTGGAAGCTTTATTTTTTCGCTCTTTGGGTCCACACTGTTTTTATTGAGCTGTAACACCATGAAGGTTTGTAGCTTCACTTAAGCCAGCGTAGACCATGAGCCCCCTGGGAGGAACAAACAACTCTGGATGCGCTGCCTTAAAGAGTTCTTAACACTCACTGTGAAGGTCTGCAGCTTCACTCCTGAGCTAGTGAGACGACGAACACATCCGTAACAGCAGAAACAAACTCTGGATGCACCACCTTAAGAGCTGTACCACTCACTTCGAGGGTCTGTGGCTTCATTCTTGAAGTCAGTGAGACCAAGAATCCACCAATTCCAGACACATAGATCCTATTGCTCTAGGCAACGCTTATGCTGATGAGGTGGCTAGACAAGCAGCTAGCATTCCAACTTCTGTCTGTCATGGCCAGTTTTTCCCCCTACACGTTGGTCACTCCCACTTACTCCCCCGCTGAAACTTCCACCATATCAATCTCTTCCCACACAAGGCAAATGGTTCTTAGGCCAAGGAAAATATCTCCTTCCAGCCTTACAGGCCCATTCTATTCTGTCATCATTTCATAACCTTCCATGTAGGTTACAAGCCGCTAGCCCGTCTCTCAGAACCTCTCGTTTCCTTTCCATCATGGAAATCTATCCTCAAGGAAATAACTTCTCAGTGTTCTATCTGCTATTCTACTCAGGGATTGTTCAGGCCCCCTCCCTTCCCTACACATCAAGCTCGGGGATTTGCCCCTGCCCAGGACTGGCAAATTGACTTTACTCACATACCCTGAGTCAGAAAACTAAAATACCTCTTGGTCTGGGTAGACACTTTCACTGGATGGGTAGAAGCCTTTCCCACAGGGTCTGAGAAGGCCACCGCGGTCATTTCTTCCCTTCTGTCAGACATAATTCCTCGGTTTGGCCTTCCCACCTCTATACAGTCTGATAACGGACCAGCCTTTATTAGTCAAATCACCCAAGCAGGTTTTCAGGCTCTTAGTATTCAGTGAAACCTTCGTATCCGTCACCGTCCTCAATCTTCAGGAAAGGTAGAACAGACTAATGGTCTTTTAAAAACAGAACTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTCACCACTTTCCCTTCTCAGAAGTCAGACCTGTCCTCGGAATGCTACAGGGTACAGCACATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAGGCCCCAGTCTCATTCCAGACACCAGACCAACTTGGACTGCACCCCAAAAAACTTGTCATCCCTACTATCTTCTGTCTAGTCATACTCCTATTCACCGTTCTCAACTACTCATAAATGCTCTGCTCTTGTTTACACTGCCCTTTTTCACTGTTTCTCCAAGCCATCACAGCTGATATCTCCTGGTGCTATCCCGAAACTGCCACTCTTAACTCCCTGTTAAAGTAAATAAATAATCTTTGCTGGCAGGACTATGCTGAACCTCCTTAGGCACTCTCTAATTGGATGTCCAGGGTCCTCCCAATTCTTAGTCCTTTAATACCTGTTTTTCTCCTTCTTATTCCGTTCTTTTTTCAATTCATATAAAACCGTATCCAGGCCATCACCAATAATTCTATACGACAAATGTTTCTTCTAACAACCACACAATATCACCCCTTACCACAAAATCTTCCTTCAGCTTAATCTCTCCCATGCTAGGTTCCCACGCCACCCCTAATCCCAGCCCTGAGAAACATCGCCCATTATCTCTCCATACCACCCCCAAAAATTTTCACCACCCCAACACTTTGCCACTATTTCATTTTATTTTTCTTATTAATATAAGAAGACAGGAATGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATATTCTGTGACCTGCACATACACATCCAGATGGCCGGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCCTGTTCCTGCCTTAACTCATGACATTATCTTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCCACTGAGCACCTTGTGACCCCCACTCCTGCCCACCAGAGAACAACACCCTTTGACTATAATTTTCCTTTACCTACCCAAATCCTATAAAACGGCCCCACCCCTATCTCCCTTTGCTGACTCACTTTTCGGACTCAGCCCGCCTGCACCCAGATGAAATAAACAACCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACGCGAGTGAAACTGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTCGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTTATAATTTTTTTTTTTTTTTTTTTTTAAGAGACAGTGCCCTGCTCTGTTATCCAGGAAGGAGTGTGGTGGCATGATCATGGATTACTGCAACTTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTAGCCCCAAGGAAATAATTTAATACCAATCAATGAAGGCCTTTTTCTGATGAAAAGCTCTTTCAAGAATGTTTACGTGGAGCCACAGACTTTTCCTGGTTGTAAAGAACCTAAAGGTTGTATATTTAAAAATTAAAAGATATTCCAGCTGGGTGTGGTGGCTCATGCCTGTAATGCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCTGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGATCGAGACTCAGTCTCGGAAAAAAAAAAAAAAAAAAAAATTAAAAGATAGTCCAAGATTATCATGGCTTCTCTATGCAGAATCCCTGATGGGAAGTTATACAGCCTATCCCTGAACACCTCCCTTGACAAGGTGCTCCTACAGAGCCAGTGATTGCACACATATGTGACAAGTAATTTACATGTGCATTTCATTTAATCCTCATAATAATTGCCTTCTGAAGTGGCTACCATGATCACCATTTTTTGGACAAAGAAGGTATGGCTCAGAGAGATTAAAATCCTTGCCCAAGGCCATACAACTAGGAAGGAAAAAAAATAACTTACTTTAGGAACACAGGTTCATCTGTTCCAGAGGCTGTGCTGTTTCCACTCTGGGGTAGGCAGGACTCTAAGGTGGCCCAAGATTCACCTGGCTCGTGGTATATACTGTTGGCAAAATGAGTCAAACTCTGTAAAATATTCGAAGAGGTTTATTCTGAGCCAAATATGAGTGACTAATGGCCCATGATACCGTCCTCAGGAGGTCTTGAGAACATGGGCCCAAGGTGGTCAGGGTCCAGTTTGCTTTTATACATTTTAGGGACACAGAAGGCGTCGATCAATACATATAAGATATACATTGGTTTGGTCTGGAAGGGTAGGACAACTGGAAGGAGGGGGGCTTCCAAGTCATAGATAGATTCAAAGGTTTTCTGACTGACAATATGTAGAAAGAGTTATCAATAGAATGCCTGGGTTATGATAAGGGATTGTGGAGACCAAGGTTTTGTCATGCAGATGAAGCCTTCAGGTAGCAGGCTTCAGAGAGAATAGATTGTAAACGTTTCTCATCAGACTTTAAGAGTCTGTTCTATCAGCATTTCCAAACGGGAGGAGGGAATGCAGAGACATGTCCAGCTCCCACTTCCCATCATTGCCTGAATGAGTTTTTCAGGTTAACTTTGAATGACCTTGGCTGAGAGGAGGGTTCCATTCAGATGGTTGGGGGGGCCTTAGAATTTTATTTTTGTTTTACAACACTCACCTTTTCCCGGTTGTTCAATCAAGCATAAATCTAGGTACTGCTGTGACAGGATTTTGCAGGTGCAATTAAGTTTCCAAGTCAGTTGACCTTAAGATAGAGAGATGATCTCATTGGCCTCCCCTAATCACATGAGCCCTTTTGAAGAAGAAGATTTCTCCACCCATTGACAGACAGGATATTCGAGTTTGGAAGCAGTAGAGACCCCCTCCTGATGACCTTGAAGGATCCGATAGCCTGCTATGGAGAGGGCCATGTGGCAGGGAACAGAAGGCAGCCCCCAGGAGCAGGAAGCAGCCTCTGCTCAAAGGCCAGCAAGAAAACGGGAACCTCGGCCTATGACCGTGAGGACCTGGCCCCTGCTGAGCACGTGAGCAAGCATGGGAGAGGCCCCTGAGCTCCTGATGAGTGCAGCCCTCCCAGACCTGCTGGACTCCCAAGCAACGGAAACTGTAAGGTGATCCTGGTGCGTTAAGCTGCTGACTTTGTGGTAACCTGTTAAAATAGCAAACTGGTAGACGAGTTCTTCTTTGATGAGTGATGTAGGTCAGGTGCCCCAAAGCACGCCTTGAGGCTAGGATCTGAGTGGAAGGTGATGAGGGCAGTGTCTGTCCTGGGAAGCGTTGGAAGTGCTGTGGGGAACAGAGCCAGGAAAGAGAAGGAAGCCAAGGGGCTGCCTCAGAACAGGTCACTGCTGCAGGTGGCAAGGGTTCAACCCAGGGGCATCTGTCAGAGACCAGGCAGAACTTCACTCTGCGTCGCCCCACCTGAGTGGAGGGGAGCTGGCTACTTAGCCTCCAGAAAGAGGTTTACCTTGCTGCACAAGTGACCCCTGGGGCAGGTCACAGTTTTTTTCAGTAAGAAGCCATCAGCAGGTCTGAGAAAAACAATGGCCAAAGGCACAGGGTGGGTCCAACAGTGTCTGCTACAAAGAATTTTGATGGGAAAGTCCTTGTATCCACTGACAGTGGCCTTCAGCCATTGGACCTGCTGTGTCCCCTTAGCTGACCCGTCTGTCTTCTGCAGCTGCCATTCAGATTCCTGTCATTTTCATGCTGCAGCAGTGCTCTCCTCACTAGCTAAGCATTTCTAGTCCCTCTCTGGACCCACCATGAAGCAGGATTTTAAATACTTTGTAATCTAGAGAGGCACTGGACTCAGAGCTGAATGCAAAGGCCAGAGATGCTCTCACTCATTTAGTTGTTCTTGTCTGAAGGCTGGGATGATGCAGGTCTGATTACGTCACCGCTGGAGAGCCTCATCACACTGGTGACTCACAGGAAGCTGTCCTGGTTCTTTGTGCAGCTGCTGAAGAACATTTCACTTTCCCCGCCCCACTCCTCTCAGTGTATGGATGCTAGGCAAGGGCATGTCACCTGCGGGGTGAGCTCGGGCACCATGAGCGCCCGGTACTGCTGGCTGCCCCAGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTACGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGAGTTCATGATGCGGTCTGGGTACTCTTC	CCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAAGACAGTGCCCGAGCAAGGGAATTTATCTAACACCCTTGCCTGTACGACCCAAAGGGACGCCTCTGTTACATCTGCCAGTCCAGTGACACTGCATGTTTTCATTCAAACCGTAGAGAAAAATATACAAATTAAATTCACATGAAGCTAGCGCAATAAATATGACCGTACCCCCGACCCAAGTTTCTGAGACAAATACACCCAGGGGAATGCCAACCGCGTCCCGCAGAAGGGCTGTGTCCCAGGGAAATCGAAAGGCCCCCGATTAAACGCACACACAGCTGCGGCGCTGCGGGCATCCTGGCGGGTCATGCAGCCTCCCGGACCCCGCCCGGCGGCCTCGCCGCGGAATGTGCCACCCGGCCAGCCCGGGGCCGCCGCGGCCTCCAGCCCCCGCCCCGGCCCCAGCCCGCACCCTCGGTCCCAACCCCGGGCCCCTCCGTGGCGGTGAGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCGCGCATGGTGCCGGCTGCGGAGCGGGTGGCGCTGGCCCTCGGAGCGGTGCGCGGCGTGGACCGGCGGGCTGGGCTGCGCAGAGACCTGCCGCCGCCCCCCCAGCTCGGTCTTTTATACCCGGGGACCCGCCCTGCCCGGTGACGTCATGACGGGCGGGGCTGTGGCCGCGGGGGCGGTGCGGCTGGGACTGCGGCACCGCGAGGGGGAGCCGGGGCGCGGTGCGAGGTGTGGGGGCGCTCGCCCTATTGCTGCTGCCGCTGGGTCTAGGGTGGGCGGCCGGCCTCGCGGTCCGGCGGTGAGTGCGGTGCCCGGGCCTCGGGCCCAGCCGCAGCCCCCTGCCCGATCCACGGGCACGGGCGACCCCTGGCGCTGGGTCCTCCGCTCACGCCGCGATCCCCACCCCGAGCCGCCCACTCTGGACCCCCGAGGGGGGCTGGGGACCGGGGGCCCCGGAACCAGGGGGAGGGGCTGCCTCGGAACAGGGTCCTCGCCTCCTAAGGACGGGAAGAGGCGTCGAGTACCCTTTGGAGTAGGGGGCCGGAAATTGAAGACCCATTTGCAGTGGGCTCTCCAGCGGGTGGCAAAGGTTTCCCGCATCCTGGGCAGGGTCCTGGACGCCGTTTGTGGGGGTGGGGTGGGCAGCGTGGAGAGGAGTGGGGGGCCGCGGGGAGCCGACGGGCAGCTGCCTGAAAGGAATGCCAGGATGGCGGGGTGGGCGGCCTTTCGCCCCTGCAGGGGAGGAAGATGGCTTGGTCGGGGGCGGGGGTTGGGGGGGCTATCAAAGGGCTGGATTTGTCACATGTCCGCTTTGGGCTCCTGCGTCCTTGTAAAGGCCTTTTAAATGTGGAAAATTCTGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGGAAAGACAGGAGGAATATATCTGCCACGTTGATGTGTCAGCTGATGGCCCTGCCCCTTACACCCCTTAGGTCGCCTGATCCTCACAGAAGCTGTCGGAGCTAGGCTGGCCAGTTCGGTAGACCCTAGGCACGGTGGCTGCCGAGCATTGAAACGTAGGTAATCTGAACTGAGATGGGCTGTTAAGTGTGAAGAACACACTGGCTTTTATGGGCTCAGTAAGTTAAAATAATGTGAAATATTTCATTACTGATTCTTAAATATTGATGGTCTATCAAAATAATAGTGTTTTGGATACATTGTGTTAAATGACTTGTTTTGAAATTAGAAAATGTAAAATTACATACTTGGTTTCCATTTGCTGCTCACTTACGCATATTTTTGTTGACTACCACCGGCTTCTGGTAAGCATTATTACTACCCCAATTTCATAGCTCCGAAAGCGAGGTTGAAAGACCTGACCAGCCACAAAGCTAGGAAGGGAAGGAATCTAAAGCCTTTGTATAAATAAAAAGCCCAGGTGAGTTTTAAAGGCTTGGGTGGGCTGTGGTAAGGACCTGACTTAATTATTCACAAAGATGGCCCTGCACGGTGGACTAGGTAACAGGGGCTTGGGGACTGCCTTTGGTTCCCAGCACATTCCAACTATATAATGATGATAATTACAGGTGCCTTGGAGCTGGCTTTGTGGTAGGAGATGAGAAGCCATATATGAAAGCACATTGAGTTTATGGAGTAAAAATGCCTTGGTAAAACCCAAGGTGATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTTAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGAGCCTGGTGGCAGGCATCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCCAGGCGACAGAGCCAGACTGCGTCTCAATAAAAAACAACAACAAAAAACCCAAGATGATGCTGTCATTCCTAATGTGCACCCTACCTGCCACCTCAATAGTTGGTCTGTATCGGAGGTGGAAACTAAAGCCAGATGTCTGTGAGTAGCCTCTTAGGCCAAGTTAGGTCTTAATCACCCCAGCTTTAGGAAGCGCCCAGCATCCTCCCAGATGTAGGTAGGCAGGTGCCTAGTGCCTCTTCTCAGGGTGGGGACAGATTTCCTAGAATTTCTCCTCCTCTCTCCCCTCTCCCTGCTGCTGGGCCCCCAGTGGACAACCTGTCCCTCGGATGCTACTCCCAGGTACCCAGGGCTTGACCTCCACCTTCTCCCCACCCCCACCCCAACTCTCACATCTTGGCTCTTCACCACAGCCGGAGCCTTCCAGATCCTCTCCAGAGAATGGCTCTCCTTGGGGTACCTTCACTCATTACACAGTTCTGAAAAGATTTTTCCAGAGATAATTGCTTCTTGGCCTTTGTGTTTTAATTCAGCGTGAAATCTGAGGCCAAATAGGAGCAGAGGATGAGACCTGAAAGGGACAGCACTAGGGACACGGGGACCCCTAGCAGCTGGGCGTTTCCCGGCCTGTGGAGCATGTGCCCACTCTGCTGTTCCTAGCTCAGTCCTCCAGCAAGTCACTGCACCTCTCTGAGCTTCTCTGGAAATGGGTTTTTCTTACGTTGGGGAGCTGGGAGGCACTGTGCGTGAACTGGACATTAGTGAGCGCACAGAAAATAAATCCATGGCAGTGTTCACGGGCGCAGGCCAGGTACCTGATTGTCTGCTCTGGATCGCTGGCAGTGAATGTTCTGCCCAAGTCGGCCTTCTCCTGCCTGGCAGTTCACGCCCAGCCTACTTCTCTCTGACGCGCTCCTCCCTCGGTGCCGCCCGTGATGTGTGTTAGTATATAATCAGAGAAACTCACACGCGGAGTTTTAAATAATGCCTGCCCTGCCTAAGGTGACTCATCTGAGGCCGTGAGTTCCTGCTCTCCCCTCCCTCGCGGCAAGTGTAGATATCCCCAACCCCACCTCGCTGTCACTAAGCAACTCGACCTTGTACAGCACCGATGCAGATAATAACAGGAGGAAATAGAGCCTGCTAATTGTCCCCTTCCCTAGAATAGGTTTTTAAGGAGCAATCTCTCCCCTTTCATGTATTTTTCAGTGTCTAAAGAGGAGCAGCTCCACCGGCTGTTGGGTGGGCCGGGGATGGGGAAGGGGAAGAGGACCAACCTCCTCCAGCCTCAAGTCACTTCCTGCTTTAGACAGGATGCCACTCGCAGTGTCTGAGCCACCCCTACCCTGAAGGCATCATTGGCGGGGTGAGGGGCGGGGGGCGGGGAAGGGCAGGTGTAATGACAAAATTCAGACTAGAGAATGTGTTCCAGGTAGGAGGCTGAGCCACATCTGTCTTTCACAAAAGGACATAAGCTCTTACCCTTTTGCCTGCCCTTCCCGCCTGCTGCTTCAGAGGGCCCAACGAGAAGGGTCCTGGTGAGAATGTTCTAGTGAAACGTACCCTGTGAATATGTGGTGTTATGATGATATCGTTACTGTTCACTGATGCCATCTCTAAGGGTGACAGTCGTGATCTAGTTGAAATAGATTTAGTTGGTCCAAGTAAGAGAGTCCTGGAACTTCAAAAACACTAGTTTCCTCTGCAGAATGATGAAAACCCAAGGACCATCCCAGCAATACAATTGTCTAAATTTGTATGGTACAGTCTTGCATCCTGTTTGTGCCCTCAGAGAACTAGCCACACTCTCCGCTCCAACTTCTCTTTCCCATGAAACTCATCCAGTGCAGCCCCTGTCTGCTATTTTTTAAATAAAAGCATCTCTTTATGAAGATGGAAGAATTTTGTTCAAAGCATTTAAGGGGATGTAACCTTTTCAAAAGGTTACCTAAAATAAAAGTCTGAACTCCAATTAAATTTAATTTTAAAATATCAACCCCACCAAAGTTTACAATTTTTTTTTTTTTTTGCATCAGATGACTATAATAATACAGAGTAAATATATAGAAGATTTTTAGCCACTTTCTGGAATGGGCCATGCCCCAGAATGTGACATTCATATTACAAGTGTCGATCTGGGGCCTTTCAAAACTGAAGATGTCATTTTTTGTTTTTTTTTGAAATGGAGTCTCGACTAGGCTGGAGTGCAGTGGCATGATCTTCGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGCGATCCTCTCGCTTTAGCCTGCCGAGTACCTGGGATTACAGGCGTGCACCACCATGCCTGATTAATTTTTGTATTTTTAGTAGAGGCAGCGTTTCACCATGTTGGCCAGGCTGGTCTCAAAGATGTTATTCTTGATGTCAAATTCTCATTAAGCTATAACCCCCCAAGTTTTTTTTAAATACATACAATGTACACAGCAATTATATATACATATATCTTATATACATATTTCCTGATTATAAAATTAGAAACACTTAGAAAGTACTAAAGAGCACAAGTGTATCCCCTGTTCTCGAGATTTTTTTAAATGCTTGATGTATTATATTCCTTTGTGTTTTTCCTATTCATGGGCTGTTTAGGTGTTTTTGTTCCTTTATAACTTTTTTTTTTTTGCCTTCAACATTAAGAGTGAAGAAATACTATATCTTCTTCTGCTATGACTTAGACATAATCTCACAAATTCTCAAAAATATGTAACCTACTCCCAACTGTCATTCTCCCCATAATCTGAGGTGTCCAGAGCATACCGAATTATCTACAGAGCAAACTCATCTCTGCTTCCCATGACTAAGGCCGTTTAGAGGACTCAGTGCCCTCCTGCCGCGTTCCCTGACTGTTGAAAAGCACAGGGCCTAGAGTTGATGGACTGGGTGCAAATCCTCACTGTCACTTCTTAGCTGTGTGACCTCGGCAAGTTACTTAACCTCTCTCTGCCTTAGTTGCCTCATCTGTAAAGTGACAGTAATAATAGTACCCGCTTCCTGGGGTTGTGATAAAGACTGAATGAATATGTGAAAGCACTCACAATACCACCTGCCCCACAGTGTTATATAAATATTAGCTATTATAACGGGTTAATCCCGTCCTCCCCCCACTCCCTCCCTCCCTCCCTTTTTTTCTCCCTCCTTCCCCTCCCTCCCTGGAGCTCTTCTGGAATCAGGACTCAACTCCAGAGCCACTTGCGAGGCTCCCATGCGGCGAGACTGCGGTCTCCGCTGGCCGCACGCTCTTCTGCATACAGCTCCGCACTACACTCCTCTCCCCTAATCCCGAGGCTGGCGCTGCAGAGTGAGCGAGCGCAGGATCGCTAAGCGCGAGCCGAGGCGCCATCGGAACACTCTTGCCCCCACCCAGACGTCGAGTCTGCAGGTCCAGGGCAGAGGGCGCTGGGCGGCGCCGGGAGGCGCGAGGCACCCGGGAGAGCCGGCTCCGTGGCTTCCTACTACCTGACCCCCTGACCACCTAGTTCTGGAGCCAGGCTTCTTCACCCTTCGCCAGGTCTGGGCTGCCAGGGACTCGGGGTGGGGCCGCCACGCTGCCTTCTCCTTCCGTCCGGAGCGCCGGGGCGCGCGACCCGCTCCGTTTCACGCTCTAGGCAAACGGTAGTTCGGGAAAGGCTGAGCTTCGCCCCCTCCCCGCGGTGAGAGCGCGGCGCGGCGGGGCGGGGCCTCCTGCGGGCGGGAGAGGCACCGGGGTCCAGGGGCCGCGGCGCAGGGGGAGGGCGGGGCTGTGCCCCCCGGAGGCCCTGCCCGCCCCGCCCCGCCCCGCCCCGCCCCAAGACCCGGGTTCCCCCTGGAGGCCGCCACCGCCCGTCCCTGCCCGTCGCCGGCAAGGCCTGAGCCTCTGTCTCAAGATCGGACGGCCTTTGCAGCGGGAGCACCAACCAACCCCACAAATTCATGAAATACTAGGCGGGAGATGCGCTCAAAATAGGACGTGCCTTTTGTTTTTTGTAGCTATAAGAGAATATCGAAGTACTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCGGTGGCGCAATTTGGGCTCACTGCAACCTCCGTCTCCGCCTAACAGCCCTGTCGTACAAAAATAACAATAGGGAACATCTGAATAGGGGGTGGGCTAATTTTGTTAAATTTACTTTTTGATGCCCCCACGTTTTGTTGCTAGTGTTAATGAAATGCCACCAATGGCTGGCTTAAATGTAGTGCTGCCAATGTATATATTCTGTGTCTCTTCTCAGTTAGGAAGAACATTTGTTACTTCCACTACCTAAAGTTTGCCCGGCATGGTCAGTTTTACCAGTAGTCACCACAAGCACACTGCTAATTAGTTTTCCAGACCTAAGGAAACGTTTGAGATCAGGATTGGGATGTGGGGGGTGTAGGGGGAGTAATGACCCCAAAATAAAAGGAAAATTGCAATAGTAAAATGAATGTTTATTTAAATGTCTACAGAATATATCATGTCAATTAGTCAAAGACAACTCAACTTTTATATTGTAATGTATAAATTATACTTAATGTAAAAAGTTAAAATAGAAAATGAAACATATCTAATATGATATGGGACAGTTCCTCCAAAAGAGTGCCAGCGACCTCCAGAGCTCGAGCTGGCTCCATTCATCACCCACTTTTAGTATCATTTTCTGGTTATCAAGAAATGAGTAGAAGTTTTTTTTGAGACCGAGTCTCACTGTGACCCCCAGGCTGGTACAATGGCTCGATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCCCACCCAGAATTTTTTTAATAACTGAAAGAAAGAAGGAGATTAAGGAAGATGGAGACAAATATGCAGGAGAAACACCCTCTGAGGGCGATTTAACAGAGCAGCGAATGTGGAAAGGGGAAGGGGAGGTGCTTCTTGGGTGCCCAGTTTCCTTGGGAGGAACTTGGGTACGTGGTCAGGGGTTGTGGGCAGTTATTCCCCTCGCTGGCCCTCAGGGGGCTCACAGGCCAAGAGCAGCTTGGTTGTCGTACATGGGTTAGGGGAAGACGGGAGAGTTAGGGTGCATGATAAGATAGAGAGGCAATGTGCAACTGGATATTTCTATGTACTTGGCCTTTCAAAATTCAAAATTTGTTAACTCATGAATACTTGTATACTGACATAATGTACAGATGCCATTTAAGGTTGGATAGTTTTGTAATTAATGAGGCATTATGGATCTCATTGAGAAGCCAATACTGACTCTGTGAGTGAAAAAACACAAATCGTTTTTCCTCTGTTCTCACAGCACAAAAGCCAACACAGAAGACTTCTGTGACCCAACGTGTAGGGGTGTTTCCCCATACACCAAGCAGGAAATCAATTCTGCCATAGACACCAGCTGGGTGTCCTCAACTTCCATTCCATTCTGACACCATCTACCAGCAGATAATGTCAGATCCCACAGGCTGAGGGCTCAGTCCCCCAGGCTCTCCCCACCACCTTCAGATGCCAACTGCAAGTGCCAGGCTGTCTTACCTGTGCCTCTGACCAACTGGCCATAAATCCGGGATTCCAGGGTCTCCTCCTTGGGTTCAATTAATTTGCCAGAGCAGCTCACAGAACTCAGGGAAATGCTTACTTACATTTCCCAGTTTATTATAAAGGCTATTACAAAGGTTACAGATGAAGAGGTGCCTAGAGTGAGGTATGGGCAAGGGGTCCATGCCCTCCCAGGACATGCCCCACCCCCAGTAGCCTCTATATGTTCCGTTACCTAAAGGTCTCCAAACCTGGTCCTTTTGGGTTAGTTTTTTATGGAGGCTTCATTTTGTAGGCCTGATTAATTAAATCATTGGCCACTGGTGATCAACTTAACCTTCAGGCCCTCTCCTCTCCAGGGAGGTTAGGGGATGGGGCTGAAAGTCCCAACCCTCTAATCATGCCTTGTTCTTTCCAGTGACCAGCCCCATCCTGAAGCTACCTAGGGGCTGCCAGCCACCAGCTGATTCATTAGCATAAAAAAGACATCACTTTGGAGATTTTAAGAATTTTAGGAGTTGTATGCCAAAAAACGAGGTTGAACATATACTTCACAATATCACAGTGACCTTGGAGAAATGAAGCTGAAAACAGCATAGGCTGAGGCCATCCATGGTGGGGAAAGCCCAGGCTAAGTATGGGAAGAGGGAGTGAGGACAGAGGCTGAGCGGCTCTGGAGCTGAGTCAACAAACGAGCTACTAAAAATGACCAGAGATTAATGCAAGAATCAGAATCTGTGTCACAATCTCAGATCTGGCTGAAAGGCCTCGTTGGGGAAGCAGGACGAAGAGGCTAGGATGTATATGTCAGAGGTGGGTTACAAGGAGACCTCTGCCCTGCAGGGCTGACTCAGAAAAACCTAGGTTGCTGCTACTCTGAGCCCAGCCTGAGACAGAAATTTCCACTGTAGCTACCTGCAGTTGTAAATTTAGCTTACCGATCCAGAACTAGTCCTCAGTGACATTGTAAGGGTGGTTACATCTCCTTTTTGTTCTGTGAAAGGAAAATAAAAATCTCTGGGCCCCAAACTCATTAAGTCAAAGGGAAAAGCTTGGGAACTGAGTCATGCAAAGACTGCCTTCCTTTTGTTCCTAAGTAGATAGCTACAAAGATAAAAGGCCACAAACCTCCCTAGGGGACCTTCCACATGATTTGCCCATCAGGAAATTCCTTGTAGGTCCCTAGATCTTTAGCCTATAACAGTTCTGTTGAATTTCACCCTGACAATGTAAATTCACAGCTCATCTTCATAGGTAAAGGACAAAGACAGGACTAGATCCTCCCTCCACTCACTAGAGACAAATGCACGTTTGGCTGCTTCCTGTACCCTGTGATTACTTTATCTAATGTAAAACTGCAGATTCACTGAGACAAATGCATAATGGACTGGCCTTCTACCTCCTCCTTTCACATGTAAAATGTGCATTCAGTGAAAGCTGATCAAAGTCTCAAAAGAATGCAACTGCTCTCCTTTTATCTACCCGCCCATTTTTTCTTTCCTCTTTCCCCCACTGCCACTCTTTCTCCATTAAATATTGACATCTCCAGACCCTTTTTGGAAAAAGCGCAGATCACAGATGTTCCCATGGTTTTGTGTTCTTTATTCCCCCTGAGTGCGTCTTCAACCTTGGCAAAATAAACCTGAGTGCGTCTTCAACCTTGGCAAATAAACCTCTAAAATGATTGAGACTCACCTTGGTCATTTTCTTTGATTTAGAGTTCTTTTATACCTCTCATTATCCTCCCACCATTTTGGGCAAGCAGGCTCCACCGCCTTAAATTCTGTACTCTAAGGACATATTGTTTTTTTGTTTTTTTGTTTTTTTTTTTAAGACGCAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGTCAGGCCTGTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGCACGTACACATCCAGATGGCCCGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCTTGTTACTGCCTTAACTGATGACATTATCCTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCTACTGAGCACCTTGTGACCCCCACTCCTGCCAGCCAGAGAACAACCCCCTCCCTTTACTATAATTTTCCTTTACCTACCCAAATTTCCTCTTAAAGAAGTGGCTGGAGCTGAAGGCATAGTCAGGGTACATGTACCTTTTTCTCTATCAGACCTCACAGATCAGTCAGCGTTTAGGCTGTTTCTCATCAGACCCCACTAAACATATACAGGAATTCCGATATCTAACTCTGTCCTACAATTTAACCTGGAGTGACCTAAATGTCATCCTGACTTCTACCCTCTCCCCAGATGAAAGGGAAAGAGTTTTTTCTCTAGTCCACTCTCACGCTGATAACCACCGGCTTCATGAGCCAGACCTCCAGGAAGGCATCAGAGCAGTTCCCCAAGAGGATCCCCAATGGAACTATCAGGCAGATTCCCCAGGTATAGCTAGGCGAGATTACATGATTTCCTGCCTAGTTGAAGGGCTTAAAAAGGCAGCTTACAAAGCTGTTAATTATGACAAGCTTAAAGAAACTACCCAAGGTAAAGATGAAAACCCAGCCCAGTTCATGGCCTGCTTTGTAGCAACCCTTACACACTTTACCGCCCTAGACCCAGAAGGGCCAGAAGGCCGCCTTATTCTTAATATGCATTTTATCACCCAATCCGCTCCTGACATTAGGAAAAAACTTCAAAAATTAGAATCTGGCCCTCAAACCCCACAACAGGAATTAATCAACCTTGCCTTCAAGGTGTACAATAATAGAGAGGAGGCAGCCAGACGGCAACGCATTTCTGAGTTACAATTACTTGCCTCTGCCGTGAGACAAAACCCAGCCACACCTCCAGCACACAAGAACTTCAAAATGCCTAAGCCGCACACACCTAAGCCACAGCAGTCAAGCATTCTTACAAGACTTCCTCCATCAGGATCTTGTTTCAAGTGCCAGAAATCTGGCCACTAGGCCAAGGAATGCCCACAGCCCAGGATTGCTCCCAAGCCATCTGTGCAGGGACCCACTGGAAATCAGACTGCCCAGCTCATCCAGCAGCTACTCCTAGAGCCCCTGAAGCTCTAGCCCAAGGCTCTCTGACTGACTCCTTCCTAGATCTGCTCGGCTTAGCAGCTGAAGATTGACGCTGCCTGATCGCCTCGGGAGCCCCCGGACCATCACGGATGCCAAGCTTCAGATGACTCTCACGGTGGAGGGTAAGTCCATCCCCTGTTTAATCGATACGGGGGCTACCCACTCCACATTACCTTCTTTTCAAGGGACTGTTTCCCTTGCCCCCATAACTGTTGTGGGTATTGACGGCCAAGCTTCAAAACCCCTAAAACTCCCCCACTCTGGTGCCAACTTGGACAACACTCTTTTATGCACTCTTTTTTAGTTATCCCCACCTGCCCAGTTCCCTTATTAGGCCGAGATATTTTAACCAAATTATCTGCTTTCCTGACTATTCCTGGACTACAGCTGCATCTCATTGCCACCCTTCTTCCCAACCCAAAGCCTCCTTTGCGTCTTCCTCTCGTATCCCCCGACCTTAACCCACAAGTATAGGACATCTCTACCCCCTCCCTGGCAACCAATCACATGACCATCACCATCCTAGTAAAACCTAATCACCGTTACCCTGCTCAACACCAATATCCCATCCCACAGCACTTTTTAAAAGGATTAAAGCCTATTATCACTCGCCTGTTACAGTATGGGCTTCTAAAACCTACAAACTCTCCTTACAATTCCCCCATTTTACCTGTCCAAAAACCGGACAAGTCTTACAGATTAGTTCAGGATCTGCGCCTCATCAATCAAATTGTTTTGCCATCCATCCTGTGGTGCCCAACCCGTACACTCTTTCGTTCTCAATACCTTCCTCCACAACTCACTATTCCGTTCTTGATCTTAAAGATGCTTTTTTCACTATTCCCCTGCACCCCTCGTCCCAGCCTCTCTTTGCTTTCACCTGGACTGACCCTGGCACCCATCAGTCCCAGCAGCTTACCTGGGCTGTGCTGCCGCAAGGTTTCAGGGACAGCCTTCATTACTTCAGCCAAGCTGTTTCTCATGATTTACTTTCTTTCCACTCCCCCGCTTCTCACCTTATTCAATATATTGATGACCTTCTTCTTTGTAGCCCCTCCTTTGAATCTTCTCAACAAGACACCCTTCTGCTCCTTCAGCATTTATTCTCCAAAGGATATCTGGTATCCCCCTCCAAAGCTCGAATTTCTTCTCCATCTGTTACCTACCTTGGCATAATTCTTCATAAAAACACACTGCTCTCCCTGCCAATCATGTCCTACTGATCTCTCAAACCCCAACCCCTTCTACAAAACAGCAACTCCTTTCCTTCCTAGGCATGGTTGGATACTTTCAACTTTGGATACCTGGTTTTGCCATCCTACCAAAACCATTATATAAACTCACAAAAGGAAACCTAGTTGACCCCATAGATCTTAAATCCTTTTCCCACTCCTCTTTCCGTTCCTTGAAGACAGCTTTAGAGACTGCCCCCACTCTAGCTCTCCCTGACTCATCCCAACCCTTTTCATTACACACAGCCTAAGTGCAGGGCTGTGCAGTCGGAATTCTTACACAAGGACTGGGATCACGTCCTGCAGCCTTTTTGTCCAAACAACTTGACCTCAATGTTTTAGGCTGGCCATCATGTCTCCGTGCAGCGGCTCCTGCTGCCCTAATACTTTTAGAGGCCCTCAAAATCACAAACTATGCTCAACTCACTCTCTACAGCTCTCATAACTTCCAAAATCTATTTTCTTCCTCACACCTGACCATATACTTTCTGCTCCCCAGCTCCTTCAGCTATACTCACTCTGTTGAGTCTCCCACAGTTACCATTGTTCCTAGCCTGGACTTCAATCCGGCCTCCAACATTATTCCAGATACCACACCTGACCCTCATGACTGCCTCTCTGATCCACCTGACATTCACCCCATTTCCCCATATTTCCTTCTTCCCTGTTCCTCACCCTGATCACATTTGGTTTATTGATGGCGGTTCCACCAGGCCTAATCGCCACTCACCAGCAAAGGCAGGCTATGCAATAGTATCTTCCACATCTATCATTGAGGCTACCGCTCTGCCCCCCTCCACTACCTCTCAGCAAGCCGAACTAGTTGCCTTAACTCGGGCCCTCACTCTTGCAAAGGGACTACGCATTAATATTTATACTGACTCTAAATATGCCTTCCATATTCTGCACCACCATGCAGTTATATGGGCTGAAAGAGGTTTTCTCACTACGCAAGGTCCTGCATCATTAATGCCTCTTTAATAAAAACTCTGCTCATGGCCGCTTTACTTCCAAAGGAAGCTGGAGTCATTCACTGCAAGGGGCATCAAAAGGCGTCCGATTGAGAGGTGACAGCGTGCTGGCAGTCCTTACAGCCCTCGCTCGCTCTGGGCGCCTCCTCTGCCTGGGCTCCCACTTTGGCGGCACTTGAGGAGCCCTTCAGCCCGCCGCTGCACTGTGGGAGCCCCTTTGTGGGCTGGCCAAGGCCAGAGCTGGCTCTGTCAGCTTGCGGGGAGGTGTGGAGTGAGAGGCGCGAGCGGGAACCGGGGCTGTAGGCGGCGCTTGCGGGCCAGCTAGAGTTCCAGGTGGGCGTGGGCTTGGTGGGCCCCGCACTCGGAGCAGCCAGCCGGCCCTGCCGGCCCCAGGCAATGAGGGGCTTAGCACCAGGGCCAGCGGCTGCAGAGGGTGTACTGGGTCCCCCAGCAGTGCCAACCCACCGGCGCTATGCTCGATTTCTCACCGGGCCTTAGCTACCTCCCCGCGGGGCAGGGCTGTACCTGCAGCCCACCATGCCTGAGCCTCCCACCCTCTCCATGGGCTCCTGCGCGGCCCCAGCCTCCCCGATGAGCGCCGCCCCCTGCTCCACAGCACCCAGTCCCATCAACCACCCAAGGGCTGAGGAGTGCGGGCGCAGGGCGTGGGACTGGCAGGCAGCTCTACCTGCAGCCCCGGTACAGGATCCACTGGGTGAAGCCAGCTAGGCTCCTGAGTCTGGTGGGGACGTGGAGAACCTTTATGTCTAGCCCAGGGATTGCAAATACACCAATCGGCACTCTGTATCTAGCCCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTCTAGCTCACGGTTTGTGAATGCACCAATCAACACTGTATCTAGCTACTCTGGTGGGGCCTTGGAGAACCTTTGTGTCGACACTCTGTATCTAGTTAATCTGGTGGGGACGTGGAGAACCTTTGTCTAGCTCAGGGATTGTAAACGCACCAATCAGCACCCTGTCAAAACAGACCACTAGGCTCTACCAATCAGCAGGATGTGGGTGGGGCCAGATAAGAGAATAAAAGCAGGCTGCCTGAGCCAGCAGTGGTAACCCACGACAGTTCTCTTCCACGCCGTGGAAGCTTTATTTTTTCGCTCTTTGGGTCCACACTGTTTTTATTGAGCTGTAACACCATGAAGGTTTGTAGCTTCACTTAAGCCAGCGTAGACCATGAGCCCCCTGGGAGGAACAAACAACTCTGGATGCGCTGCCTTAAAGAGTTCTTAACACTCACTGTGAAGGTCTGCAGCTTCACTCCTGAGCTAGTGAGACGACGAACACATCCGTAACAGCAGAAACAAACTCTGGATGCACCACCTTAAGAGCTGTACCACTCACTTCGAGGGTCTGTGGCTTCATTCTTGAAGTCAGTGAGACCAAGAATCCACCAATTCCAGACACATAGATCCTATTGCTCTAGGCAACGCTTATGCTGATGAGGTGGCTAGACAAGCAGCTAGCATTCCAACTTCTGTCTGTCATGGCCAGTTTTTCCCCCTACACGTTGGTCACTCCCACTTACTCCCCCGCTGAAACTTCCACCATATCAATCTCTTCCCACACAAGGCAAATGGTTCTTAGGCCAAGGAAAATATCTCCTTCCAGCCTTACAGGCCCATTCTATTCTGTCATCATTTCATAACCTTCCATGTAGGTTACAAGCCGCTAGCCCGTCTCTCAGAACCTCTCGTTTCCTTTCCATCATGGAAATCTATCCTCAAGGAAATAACTTCTCAGTGTTCTATCTGCTATTCTACTCAGGGATTGTTCAGGCCCCCTCCCTTCCCTACACATCAAGCTCGGGGATTTGCCCCTGCCCAGGACTGGCAAATTGACTTTACTCACATACCCTGAGTCAGAAAACTAAAATACCTCTTGGTCTGGGTAGACACTTTCACTGGATGGGTAGAAGCCTTTCCCACAGGGTCTGAGAAGGCCACCGCGGTCATTTCTTCCCTTCTGTCAGACATAATTCCTCGGTTTGGCCTTCCCACCTCTATACAGTCTGATAACGGACCAGCCTTTATTAGTCAAATCACCCAAGCAGGTTTTCAGGCTCTTAGTATTCAGTGAAACCTTCGTATCCGTCACCGTCCTCAATCTTCAGGAAAGGTAGAACAGACTAATGGTCTTTTAAAAACAGAACTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTCACCACTTTCCCTTCTCAGAAGTCAGACCTGTCCTCGGAATGCTACAGGGTACAGCACATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAGGCCCCAGTCTCATTCCAGACACCAGACCAACTTGGACTGCACCCCAAAAAACTTGTCATCCCTACTATCTTCTGTCTAGTCATACTCCTATTCACCGTTCTCAACTACTCATAAATGCTCTGCTCTTGTTTACACTGCCCTTTTTCACTGTTTCTCCAAGCCATCACAGCTGATATCTCCTGGTGCTATCCCGAAACTGCCACTCTTAACTCCCTGTTAAAGTAAATAAATAATCTTTGCTGGCAGGACTATGCTGAACCTCCTTAGGCACTCTCTAATTGGATGTCCAGGGTCCTCCCAATTCTTAGTCCTTTAATACCTGTTTTTCTCCTTCTTATTCCGTTCTTTTTTCAATTCATATAAAACCGTATCCAGGCCATCACCAATAATTCTATACGACAAATGTTTCTTCTAACAACCACACAATATCACCCCTTACCACAAAATCTTCCTTCAGCTTAATCTCTCCCATGCTAGGTTCCCACGCCACCCCTAATCCCAGCCCTGAGAAACATCGCCCATTATCTCTCCATACCACCCCCAAAAATTTTCACCACCCCAACACTTTGCCACTATTTCATTTTATTTTTCTTATTAATATAAGAAGACAGGAATGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATATTCTGTGACCTGCACATACACATCCAGATGGCCGGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCCTGTTCCTGCCTTAACTCATGACATTATCTTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCCACTGAGCACCTTGTGACCCCCACTCCTGCCCACCAGAGAACAACACCCTTTGACTATAATTTTCCTTTACCTACCCAAATCCTATAAAACGGCCCCACCCCTATCTCCCTTTGCTGACTCACTTTTCGGACTCAGCCCGCCTGCACCCAGATGAAATAAACAACCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACGCGAGTGAAACTGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTCGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTTATAATTTTTTTTTTTTTTTTTTTTTAAGAGACAGTGCCCTGCTCTGTTATCCAGGAAGGAGTGTGGTGGCATGATCATGGATTACTGCAACTTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTAGCCCCAAGGAAATAATTTAATACCAATCAATGAAGGCCTTTTTCTGATGAAAAGCTCTTTCAAGAATGTTTACGTGGAGCCACAGACTTTTCCTGGTTGTAAAGAACCTAAAGGTTGTATATTTAAAAATTAAAAGATATTCCAGCTGGGTGTGGTGGCTCATGCCTGTAATGCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCTGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGATCGAGACTCAGTCTCGGAAAAAAAAAAAAAAAAAAAAATTAAAAGATAGTCCAAGATTATCATGGCTTCTCTATGCAGAATCCCTGATGGGAAGTTATACAGCCTATCCCTGAACACCTCCCTTGACAAGGTGCTCCTACAGAGCCAGTGATTGCACACATATGTGACAAGTAATTTACATGTGCATTTCATTTAATCCTCATAATAATTGCCTTCTGAAGTGGCTACCATGATCACCATTTTTTGGACAAAGAAGGTATGGCTCAGAGAGATTAAAATCCTTGCCCAAGGCCATACAACTAGGAAGGAAAAAAAATAACTTACTTTAGGAACACAGGTTCATCTGTTCCAGAGGCTGTGCTGTTTCCACTCTGGGGTAGGCAGGACTCTAAGGTGGCCCAAGATTCACCTGGCTCGTGGTATATACTGTTGGCAAAATGAGTCAAACTCTGTAAAATATTCGAAGAGGTTTATTCTGAGCCAAATATGAGTGACTAATGGCCCATGATACCGTCCTCAGGAGGTCTTGAGAACATGGGCCCAAGGTGGTCAGGGTCCAGTTTGCTTTTATACATTTTAGGGACACAGAAGGCGTCGATCAATACATATAAGATATACATTGGTTTGGTCTGGAAGGGTAGGACAACTGGAAGGAGGGGGGCTTCCAAGTCATAGATAGATTCAAAGGTTTTCTGACTGACAATATGTAGAAAGAGTTATCAATAGAATGCCTGGGTTATGATAAGGGATTGTGGAGACCAAGGTTTTGTCATGCAGATGAAGCCTTCAGGTAGCAGGCTTCAGAGAGAATAGATTGTAAACGTTTCTCATCAGACTTTAAGAGTCTGTTCTATCAGCATTTCCAAACGGGAGGAGGGAATGCAGAGACATGTCCAGCTCCCACTTCCCATCATTGCCTGAATGAGTTTTTCAGGTTAACTTTGAATGACCTTGGCTGAGAGGAGGGTTCCATTCAGATGGTTGGGGGGGCCTTAGAATTTTATTTTTGTTTTACAACACTCACCTTTTCCCGGTTGTTCAATCAAGCATAAATCTAGGTACTGCTGTGACAGGATTTTGCAGGTGCAATTAAGTTTCCAAGTCAGTTGACCTTAAGATAGAGAGATGATCTCATTGGCCTCCCCTAATCACATGAGCCCTTTTGAAGAAGAAGATTTCTCCACCCATTGACAGACAGGATATTCGAGTTTGGAAGCAGTAGAGACCCCCTCCTGATGACCTTGAAGGATCCGATAGCCTGCTATGGAGAGGGCCATGTGGCAGGGAACAGAAGGCAGCCCCCAGGAGCAGGAAGCAGCCTCTGCTCAAAGGCCAGCAAGAAAACGGGAACCTCGGCCTATGACCGTGAGGACCTGGCCCCTGCTGAGCACGTGAGCAAGCATGGGAGAGGCCCCTGAGCTCCTGATGAGTGCAGCCCTCCCAGACCTGCTGGACTCCCAAGCAACGGAAACTGTAAGGTGATCCTGGTGCGTTAAGCTGCTGACTTTGTGGTAACCTGTTAAAATAGCAAACTGGTAGACGAGTTCTTCTTTGATGAGTGATGTAGGTCAGGTGCCCCAAAGCACGCCTTGAGGCTAGGATCTGAGTGGAAGGTGATGAGGGCAGTGTCTGTCCTGGGAAGCGTTGGAAGTGCTGTGGGGAACAGAGCCAGGAAAGAGAAGGAAGCCAAGGGGCTGCCTCAGAACAGGTCACTGCTGCAGGTGGCAAGGGTTCAACCCAGGGGCATCTGTCAGAGACCAGGCAGAACTTCACTCTGCGTCGCCCCACCTGAGTGGAGGGGAGCTGGCTACTTAGCCTCCAGAAAGAGGTTTACCTTGCTGCACAAGTGACCCCTGGGGCAGGTCACAGTTTTTTTCAGTAAGAAGCCATCAGCAGGTCTGAGAAAAACAATGGCCAAAGGCACAGGGTGGGTCCAACAGTGTCTGCTACAAAGAATTTTGATGGGAAAGTCCTTGTATCCACTGACAGTGGCCTTCAGCCATTGGACCTGCTGTGTCCCCTTAGCTGACCCGTCTGTCTTCTGCAGCTGCCATTCAGATTCCTGTCATTTTCATGCTGCAGCAGTGCTCTCCTCACTAGCTAAGCATTTCTAGTCCCTCTCTGGACCCACCATGAAGCAGGATTTTAAATACTTTGTAATCTAGAGAGGCACTGGACTCAGAGCTGAATGCAAAGGCCAGAGATGCTCTCACTCATTTAGTTGTTCTTGTCTGAAGGCTGGGATGATGCAGGTCTGATTACGTCACCGCTGGAGAGCCTCATCACACTGGTGACTCACAGGAAGCTGTCCTGGTTCTTTGTGCAGCTGCTGAAGAACATTTCACTTTCCCCGCCCCACTCCTCTCAGTGTATGGATGCTAGGCAAGGGCATGTCACCTGCGGGGTGAGCTCGGGCACCATGAGCGCCCGGTACTGCTGGCTGCCCCAGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTACGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGAGTTCATGATGCGGTCTGGGTACTCTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	326	65	362	0				ENST00000333628	.		.		.	.	.	.	.	-	.	protein_coding	YES	CCDS4484.1	?-469	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAAGACAGTGCCCGAGCAAGGGAATTTATCTAACACCCTTGCCTGTACGACCCAAAGGGACGCCTCTGTTACATCTGCCAGTCCAGTGACACTGCATGTTTTCATTCAAACCGTAGAGAAAAATATACAAATTAAATTCACATGAAGCTAGCGCAATAAATATGACCGTACCCCCGACCCAAGTTTCTGAGACAAATACACCCAGGGGAATGCCAACCGCGTCCCGCAGAAGGGCTGTGTCCCAGGGAAATCGAAAGGCCCCCGATTAAACGCACACACAGCTGCGGCGCTGCGGGCATCCTGGCGGGTCATGCAGCCTCCCGGACCCCGCCCGGCGGCCTCGCCGCGGAATGTGCCACCCGGCCAGCCCGGGGCCGCCGCGGCCTCCAGCCCCCGCCCCGGCCCCAGCCCGCACCCTCGGTCCCAACCCCGGGCCCCTCCGTGGCGGTGAGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCGCGCATGGTGCCGGCTGCGGAGCGGGTGGCGCTGGCCCTCGGAGCGGTGCGCGGCGTGGACCGGCGGGCTGGGCTGCGCAGAGACCTGCCGCCGCCCCCCCAGCTCGGTCTTTTATACCCGGGGACCCGCCCTGCCCGGTGACGTCATGACGGGCGGGGCTGTGGCCGCGGGGGCGGTGCGGCTGGGACTGCGGCACCGCGAGGGGGAGCCGGGGCGCGGTGCGAGGTGTGGGGGCGCTCGCCCTATTGCTGCTGCCGCTGGGTCTAGGGTGGGCGGCCGGCCTCGCGGTCCGGCGGTGAGTGCGGTGCCCGGGCCTCGGGCCCAGCCGCAGCCCCCTGCCCGATCCACGGGCACGGGCGACCCCTGGCGCTGGGTCCTCCGCTCACGCCGCGATCCCCACCCCGAGCCGCCCACTCTGGACCCCCGAGGGGGGCTGGGGACCGGGGGCCCCGGAACCAGGGGGAGGGGCTGCCTCGGAACAGGGTCCTCGCCTCCTAAGGACGGGAAGAGGCGTCGAGTACCCTTTGGAGTAGGGGGCCGGAAATTGAAGACCCATTTGCAGTGGGCTCTCCAGCGGGTGGCAAAGGTTTCCCGCATCCTGGGCAGGGTCCTGGACGCCGTTTGTGGGGGTGGGGTGGGCAGCGTGGAGAGGAGTGGGGGGCCGCGGGGAGCCGACGGGCAGCTGCCTGAAAGGAATGCCAGGATGGCGGGGTGGGCGGCCTTTCGCCCCTGCAGGGGAGGAAGATGGCTTGGTCGGGGGCGGGGGTTGGGGGGGCTATCAAAGGGCTGGATTTGTCACATGTCCGCTTTGGGCTCCTGCGTCCTTGTAAAGGCCTTTTAAATGTGGAAAATTCTGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGGAAAGACAGGAGGAATATATCTGCCACGTTGATGTGTCAGCTGATGGCCCTGCCCCTTACACCCCTTAGGTCGCCTGATCCTCACAGAAGCTGTCGGAGCTAGGCTGGCCAGTTCGGTAGACCCTAGGCACGGTGGCTGCCGAGCATTGAAACGTAGGTAATCTGAACTGAGATGGGCTGTTAAGTGTGAAGAACACACTGGCTTTTATGGGCTCAGTAAGTTAAAATAATGTGAAATATTTCATTACTGATTCTTAAATATTGATGGTCTATCAAAATAATAGTGTTTTGGATACATTGTGTTAAATGACTTGTTTTGAAATTAGAAAATGTAAAATTACATACTTGGTTTCCATTTGCTGCTCACTTACGCATATTTTTGTTGACTACCACCGGCTTCTGGTAAGCATTATTACTACCCCAATTTCATAGCTCCGAAAGCGAGGTTGAAAGACCTGACCAGCCACAAAGCTAGGAAGGGAAGGAATCTAAAGCCTTTGTATAAATAAAAAGCCCAGGTGAGTTTTAAAGGCTTGGGTGGGCTGTGGTAAGGACCTGACTTAATTATTCACAAAGATGGCCCTGCACGGTGGACTAGGTAACAGGGGCTTGGGGACTGCCTTTGGTTCCCAGCACATTCCAACTATATAATGATGATAATTACAGGTGCCTTGGAGCTGGCTTTGTGGTAGGAGATGAGAAGCCATATATGAAAGCACATTGAGTTTATGGAGTAAAAATGCCTTGGTAAAACCCAAGGTGATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTTAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGAGCCTGGTGGCAGGCATCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCCAGGCGACAGAGCCAGACTGCGTCTCAATAAAAAACAACAACAAAAAACCCAAGATGATGCTGTCATTCCTAATGTGCACCCTACCTGCCACCTCAATAGTTGGTCTGTATCGGAGGTGGAAACTAAAGCCAGATGTCTGTGAGTAGCCTCTTAGGCCAAGTTAGGTCTTAATCACCCCAGCTTTAGGAAGCGCCCAGCATCCTCCCAGATGTAGGTAGGCAGGTGCCTAGTGCCTCTTCTCAGGGTGGGGACAGATTTCCTAGAATTTCTCCTCCTCTCTCCCCTCTCCCTGCTGCTGGGCCCCCAGTGGACAACCTGTCCCTCGGATGCTACTCCCAGGTACCCAGGGCTTGACCTCCACCTTCTCCCCACCCCCACCCCAACTCTCACATCTTGGCTCTTCACCACAGCCGGAGCCTTCCAGATCCTCTCCAGAGAATGGCTCTCCTTGGGGTACCTTCACTCATTACACAGTTCTGAAAAGATTTTTCCAGAGATAATTGCTTCTTGGCCTTTGTGTTTTAATTCAGCGTGAAATCTGAGGCCAAATAGGAGCAGAGGATGAGACCTGAAAGGGACAGCACTAGGGACACGGGGACCCCTAGCAGCTGGGCGTTTCCCGGCCTGTGGAGCATGTGCCCACTCTGCTGTTCCTAGCTCAGTCCTCCAGCAAGTCACTGCACCTCTCTGAGCTTCTCTGGAAATGGGTTTTTCTTACGTTGGGGAGCTGGGAGGCACTGTGCGTGAACTGGACATTAGTGAGCGCACAGAAAATAAATCCATGGCAGTGTTCACGGGCGCAGGCCAGGTACCTGATTGTCTGCTCTGGATCGCTGGCAGTGAATGTTCTGCCCAAGTCGGCCTTCTCCTGCCTGGCAGTTCACGCCCAGCCTACTTCTCTCTGACGCGCTCCTCCCTCGGTGCCGCCCGTGATGTGTGTTAGTATATAATCAGAGAAACTCACACGCGGAGTTTTAAATAATGCCTGCCCTGCCTAAGGTGACTCATCTGAGGCCGTGAGTTCCTGCTCTCCCCTCCCTCGCGGCAAGTGTAGATATCCCCAACCCCACCTCGCTGTCACTAAGCAACTCGACCTTGTACAGCACCGATGCAGATAATAACAGGAGGAAATAGAGCCTGCTAATTGTCCCCTTCCCTAGAATAGGTTTTTAAGGAGCAATCTCTCCCCTTTCATGTATTTTTCAGTGTCTAAAGAGGAGCAGCTCCACCGGCTGTTGGGTGGGCCGGGGATGGGGAAGGGGAAGAGGACCAACCTCCTCCAGCCTCAAGTCACTTCCTGCTTTAGACAGGATGCCACTCGCAGTGTCTGAGCCACCCCTACCCTGAAGGCATCATTGGCGGGGTGAGGGGCGGGGGGCGGGGAAGGGCAGGTGTAATGACAAAATTCAGACTAGAGAATGTGTTCCAGGTAGGAGGCTGAGCCACATCTGTCTTTCACAAAAGGACATAAGCTCTTACCCTTTTGCCTGCCCTTCCCGCCTGCTGCTTCAGAGGGCCCAACGAGAAGGGTCCTGGTGAGAATGTTCTAGTGAAACGTACCCTGTGAATATGTGGTGTTATGATGATATCGTTACTGTTCACTGATGCCATCTCTAAGGGTGACAGTCGTGATCTAGTTGAAATAGATTTAGTTGGTCCAAGTAAGAGAGTCCTGGAACTTCAAAAACACTAGTTTCCTCTGCAGAATGATGAAAACCCAAGGACCATCCCAGCAATACAATTGTCTAAATTTGTATGGTACAGTCTTGCATCCTGTTTGTGCCCTCAGAGAACTAGCCACACTCTCCGCTCCAACTTCTCTTTCCCATGAAACTCATCCAGTGCAGCCCCTGTCTGCTATTTTTTAAATAAAAGCATCTCTTTATGAAGATGGAAGAATTTTGTTCAAAGCATTTAAGGGGATGTAACCTTTTCAAAAGGTTACCTAAAATAAAAGTCTGAACTCCAATTAAATTTAATTTTAAAATATCAACCCCACCAAAGTTTACAATTTTTTTTTTTTTTTGCATCAGATGACTATAATAATACAGAGTAAATATATAGAAGATTTTTAGCCACTTTCTGGAATGGGCCATGCCCCAGAATGTGACATTCATATTACAAGTGTCGATCTGGGGCCTTTCAAAACTGAAGATGTCATTTTTTGTTTTTTTTTGAAATGGAGTCTCGACTAGGCTGGAGTGCAGTGGCATGATCTTCGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGCGATCCTCTCGCTTTAGCCTGCCGAGTACCTGGGATTACAGGCGTGCACCACCATGCCTGATTAATTTTTGTATTTTTAGTAGAGGCAGCGTTTCACCATGTTGGCCAGGCTGGTCTCAAAGATGTTATTCTTGATGTCAAATTCTCATTAAGCTATAACCCCCCAAGTTTTTTTTAAATACATACAATGTACACAGCAATTATATATACATATATCTTATATACATATTTCCTGATTATAAAATTAGAAACACTTAGAAAGTACTAAAGAGCACAAGTGTATCCCCTGTTCTCGAGATTTTTTTAAATGCTTGATGTATTATATTCCTTTGTGTTTTTCCTATTCATGGGCTGTTTAGGTGTTTTTGTTCCTTTATAACTTTTTTTTTTTTGCCTTCAACATTAAGAGTGAAGAAATACTATATCTTCTTCTGCTATGACTTAGACATAATCTCACAAATTCTCAAAAATATGTAACCTACTCCCAACTGTCATTCTCCCCATAATCTGAGGTGTCCAGAGCATACCGAATTATCTACAGAGCAAACTCATCTCTGCTTCCCATGACTAAGGCCGTTTAGAGGACTCAGTGCCCTCCTGCCGCGTTCCCTGACTGTTGAAAAGCACAGGGCCTAGAGTTGATGGACTGGGTGCAAATCCTCACTGTCACTTCTTAGCTGTGTGACCTCGGCAAGTTACTTAACCTCTCTCTGCCTTAGTTGCCTCATCTGTAAAGTGACAGTAATAATAGTACCCGCTTCCTGGGGTTGTGATAAAGACTGAATGAATATGTGAAAGCACTCACAATACCACCTGCCCCACAGTGTTATATAAATATTAGCTATTATAACGGGTTAATCCCGTCCTCCCCCCACTCCCTCCCTCCCTCCCTTTTTTTCTCCCTCCTTCCCCTCCCTCCCTGGAGCTCTTCTGGAATCAGGACTCAACTCCAGAGCCACTTGCGAGGCTCCCATGCGGCGAGACTGCGGTCTCCGCTGGCCGCACGCTCTTCTGCATACAGCTCCGCACTACACTCCTCTCCCCTAATCCCGAGGCTGGCGCTGCAGAGTGAGCGAGCGCAGGATCGCTAAGCGCGAGCCGAGGCGCCATCGGAACACTCTTGCCCCCACCCAGACGTCGAGTCTGCAGGTCCAGGGCAGAGGGCGCTGGGCGGCGCCGGGAGGCGCGAGGCACCCGGGAGAGCCGGCTCCGTGGCTTCCTACTACCTGACCCCCTGACCACCTAGTTCTGGAGCCAGGCTTCTTCACCCTTCGCCAGGTCTGGGCTGCCAGGGACTCGGGGTGGGGCCGCCACGCTGCCTTCTCCTTCCGTCCGGAGCGCCGGGGCGCGCGACCCGCTCCGTTTCACGCTCTAGGCAAACGGTAGTTCGGGAAAGGCTGAGCTTCGCCCCCTCCCCGCGGTGAGAGCGCGGCGCGGCGGGGCGGGGCCTCCTGCGGGCGGGAGAGGCACCGGGGTCCAGGGGCCGCGGCGCAGGGGGAGGGCGGGGCTGTGCCCCCCGGAGGCCCTGCCCGCCCCGCCCCGCCCCGCCCCGCCCCAAGACCCGGGTTCCCCCTGGAGGCCGCCACCGCCCGTCCCTGCCCGTCGCCGGCAAGGCCTGAGCCTCTGTCTCAAGATCGGACGGCCTTTGCAGCGGGAGCACCAACCAACCCCACAAATTCATGAAATACTAGGCGGGAGATGCGCTCAAAATAGGACGTGCCTTTTGTTTTTTGTAGCTATAAGAGAATATCGAAGTACTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCGGTGGCGCAATTTGGGCTCACTGCAACCTCCGTCTCCGCCTAACAGCCCTGTCGTACAAAAATAACAATAGGGAACATCTGAATAGGGGGTGGGCTAATTTTGTTAAATTTACTTTTTGATGCCCCCACGTTTTGTTGCTAGTGTTAATGAAATGCCACCAATGGCTGGCTTAAATGTAGTGCTGCCAATGTATATATTCTGTGTCTCTTCTCAGTTAGGAAGAACATTTGTTACTTCCACTACCTAAAGTTTGCCCGGCATGGTCAGTTTTACCAGTAGTCACCACAAGCACACTGCTAATTAGTTTTCCAGACCTAAGGAAACGTTTGAGATCAGGATTGGGATGTGGGGGGTGTAGGGGGAGTAATGACCCCAAAATAAAAGGAAAATTGCAATAGTAAAATGAATGTTTATTTAAATGTCTACAGAATATATCATGTCAATTAGTCAAAGACAACTCAACTTTTATATTGTAATGTATAAATTATACTTAATGTAAAAAGTTAAAATAGAAAATGAAACATATCTAATATGATATGGGACAGTTCCTCCAAAAGAGTGCCAGCGACCTCCAGAGCTCGAGCTGGCTCCATTCATCACCCACTTTTAGTATCATTTTCTGGTTATCAAGAAATGAGTAGAAGTTTTTTTTGAGACCGAGTCTCACTGTGACCCCCAGGCTGGTACAATGGCTCGATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCCCACCCAGAATTTTTTTAATAACTGAAAGAAAGAAGGAGATTAAGGAAGATGGAGACAAATATGCAGGAGAAACACCCTCTGAGGGCGATTTAACAGAGCAGCGAATGTGGAAAGGGGAAGGGGAGGTGCTTCTTGGGTGCCCAGTTTCCTTGGGAGGAACTTGGGTACGTGGTCAGGGGTTGTGGGCAGTTATTCCCCTCGCTGGCCCTCAGGGGGCTCACAGGCCAAGAGCAGCTTGGTTGTCGTACATGGGTTAGGGGAAGACGGGAGAGTTAGGGTGCATGATAAGATAGAGAGGCAATGTGCAACTGGATATTTCTATGTACTTGGCCTTTCAAAATTCAAAATTTGTTAACTCATGAATACTTGTATACTGACATAATGTACAGATGCCATTTAAGGTTGGATAGTTTTGTAATTAATGAGGCATTATGGATCTCATTGAGAAGCCAATACTGACTCTGTGAGTGAAAAAACACAAATCGTTTTTCCTCTGTTCTCACAGCACAAAAGCCAACACAGAAGACTTCTGTGACCCAACGTGTAGGGGTGTTTCCCCATACACCAAGCAGGAAATCAATTCTGCCATAGACACCAGCTGGGTGTCCTCAACTTCCATTCCATTCTGACACCATCTACCAGCAGATAATGTCAGATCCCACAGGCTGAGGGCTCAGTCCCCCAGGCTCTCCCCACCACCTTCAGATGCCAACTGCAAGTGCCAGGCTGTCTTACCTGTGCCTCTGACCAACTGGCCATAAATCCGGGATTCCAGGGTCTCCTCCTTGGGTTCAATTAATTTGCCAGAGCAGCTCACAGAACTCAGGGAAATGCTTACTTACATTTCCCAGTTTATTATAAAGGCTATTACAAAGGTTACAGATGAAGAGGTGCCTAGAGTGAGGTATGGGCAAGGGGTCCATGCCCTCCCAGGACATGCCCCACCCCCAGTAGCCTCTATATGTTCCGTTACCTAAAGGTCTCCAAACCTGGTCCTTTTGGGTTAGTTTTTTATGGAGGCTTCATTTTGTAGGCCTGATTAATTAAATCATTGGCCACTGGTGATCAACTTAACCTTCAGGCCCTCTCCTCTCCAGGGAGGTTAGGGGATGGGGCTGAAAGTCCCAACCCTCTAATCATGCCTTGTTCTTTCCAGTGACCAGCCCCATCCTGAAGCTACCTAGGGGCTGCCAGCCACCAGCTGATTCATTAGCATAAAAAAGACATCACTTTGGAGATTTTAAGAATTTTAGGAGTTGTATGCCAAAAAACGAGGTTGAACATATACTTCACAATATCACAGTGACCTTGGAGAAATGAAGCTGAAAACAGCATAGGCTGAGGCCATCCATGGTGGGGAAAGCCCAGGCTAAGTATGGGAAGAGGGAGTGAGGACAGAGGCTGAGCGGCTCTGGAGCTGAGTCAACAAACGAGCTACTAAAAATGACCAGAGATTAATGCAAGAATCAGAATCTGTGTCACAATCTCAGATCTGGCTGAAAGGCCTCGTTGGGGAAGCAGGACGAAGAGGCTAGGATGTATATGTCAGAGGTGGGTTACAAGGAGACCTCTGCCCTGCAGGGCTGACTCAGAAAAACCTAGGTTGCTGCTACTCTGAGCCCAGCCTGAGACAGAAATTTCCACTGTAGCTACCTGCAGTTGTAAATTTAGCTTACCGATCCAGAACTAGTCCTCAGTGACATTGTAAGGGTGGTTACATCTCCTTTTTGTTCTGTGAAAGGAAAATAAAAATCTCTGGGCCCCAAACTCATTAAGTCAAAGGGAAAAGCTTGGGAACTGAGTCATGCAAAGACTGCCTTCCTTTTGTTCCTAAGTAGATAGCTACAAAGATAAAAGGCCACAAACCTCCCTAGGGGACCTTCCACATGATTTGCCCATCAGGAAATTCCTTGTAGGTCCCTAGATCTTTAGCCTATAACAGTTCTGTTGAATTTCACCCTGACAATGTAAATTCACAGCTCATCTTCATAGGTAAAGGACAAAGACAGGACTAGATCCTCCCTCCACTCACTAGAGACAAATGCACGTTTGGCTGCTTCCTGTACCCTGTGATTACTTTATCTAATGTAAAACTGCAGATTCACTGAGACAAATGCATAATGGACTGGCCTTCTACCTCCTCCTTTCACATGTAAAATGTGCATTCAGTGAAAGCTGATCAAAGTCTCAAAAGAATGCAACTGCTCTCCTTTTATCTACCCGCCCATTTTTTCTTTCCTCTTTCCCCCACTGCCACTCTTTCTCCATTAAATATTGACATCTCCAGACCCTTTTTGGAAAAAGCGCAGATCACAGATGTTCCCATGGTTTTGTGTTCTTTATTCCCCCTGAGTGCGTCTTCAACCTTGGCAAAATAAACCTGAGTGCGTCTTCAACCTTGGCAAATAAACCTCTAAAATGATTGAGACTCACCTTGGTCATTTTCTTTGATTTAGAGTTCTTTTATACCTCTCATTATCCTCCCACCATTTTGGGCAAGCAGGCTCCACCGCCTTAAATTCTGTACTCTAAGGACATATTGTTTTTTTGTTTTTTTGTTTTTTTTTTTAAGACGCAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGTCAGGCCTGTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGCACGTACACATCCAGATGGCCCGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCTTGTTACTGCCTTAACTGATGACATTATCCTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCTACTGAGCACCTTGTGACCCCCACTCCTGCCAGCCAGAGAACAACCCCCTCCCTTTACTATAATTTTCCTTTACCTACCCAAATTTCCTCTTAAAGAAGTGGCTGGAGCTGAAGGCATAGTCAGGGTACATGTACCTTTTTCTCTATCAGACCTCACAGATCAGTCAGCGTTTAGGCTGTTTCTCATCAGACCCCACTAAACATATACAGGAATTCCGATATCTAACTCTGTCCTACAATTTAACCTGGAGTGACCTAAATGTCATCCTGACTTCTACCCTCTCCCCAGATGAAAGGGAAAGAGTTTTTTCTCTAGTCCACTCTCACGCTGATAACCACCGGCTTCATGAGCCAGACCTCCAGGAAGGCATCAGAGCAGTTCCCCAAGAGGATCCCCAATGGAACTATCAGGCAGATTCCCCAGGTATAGCTAGGCGAGATTACATGATTTCCTGCCTAGTTGAAGGGCTTAAAAAGGCAGCTTACAAAGCTGTTAATTATGACAAGCTTAAAGAAACTACCCAAGGTAAAGATGAAAACCCAGCCCAGTTCATGGCCTGCTTTGTAGCAACCCTTACACACTTTACCGCCCTAGACCCAGAAGGGCCAGAAGGCCGCCTTATTCTTAATATGCATTTTATCACCCAATCCGCTCCTGACATTAGGAAAAAACTTCAAAAATTAGAATCTGGCCCTCAAACCCCACAACAGGAATTAATCAACCTTGCCTTCAAGGTGTACAATAATAGAGAGGAGGCAGCCAGACGGCAACGCATTTCTGAGTTACAATTACTTGCCTCTGCCGTGAGACAAAACCCAGCCACACCTCCAGCACACAAGAACTTCAAAATGCCTAAGCCGCACACACCTAAGCCACAGCAGTCAAGCATTCTTACAAGACTTCCTCCATCAGGATCTTGTTTCAAGTGCCAGAAATCTGGCCACTAGGCCAAGGAATGCCCACAGCCCAGGATTGCTCCCAAGCCATCTGTGCAGGGACCCACTGGAAATCAGACTGCCCAGCTCATCCAGCAGCTACTCCTAGAGCCCCTGAAGCTCTAGCCCAAGGCTCTCTGACTGACTCCTTCCTAGATCTGCTCGGCTTAGCAGCTGAAGATTGACGCTGCCTGATCGCCTCGGGAGCCCCCGGACCATCACGGATGCCAAGCTTCAGATGACTCTCACGGTGGAGGGTAAGTCCATCCCCTGTTTAATCGATACGGGGGCTACCCACTCCACATTACCTTCTTTTCAAGGGACTGTTTCCCTTGCCCCCATAACTGTTGTGGGTATTGACGGCCAAGCTTCAAAACCCCTAAAACTCCCCCACTCTGGTGCCAACTTGGACAACACTCTTTTATGCACTCTTTTTTAGTTATCCCCACCTGCCCAGTTCCCTTATTAGGCCGAGATATTTTAACCAAATTATCTGCTTTCCTGACTATTCCTGGACTACAGCTGCATCTCATTGCCACCCTTCTTCCCAACCCAAAGCCTCCTTTGCGTCTTCCTCTCGTATCCCCCGACCTTAACCCACAAGTATAGGACATCTCTACCCCCTCCCTGGCAACCAATCACATGACCATCACCATCCTAGTAAAACCTAATCACCGTTACCCTGCTCAACACCAATATCCCATCCCACAGCACTTTTTAAAAGGATTAAAGCCTATTATCACTCGCCTGTTACAGTATGGGCTTCTAAAACCTACAAACTCTCCTTACAATTCCCCCATTTTACCTGTCCAAAAACCGGACAAGTCTTACAGATTAGTTCAGGATCTGCGCCTCATCAATCAAATTGTTTTGCCATCCATCCTGTGGTGCCCAACCCGTACACTCTTTCGTTCTCAATACCTTCCTCCACAACTCACTATTCCGTTCTTGATCTTAAAGATGCTTTTTTCACTATTCCCCTGCACCCCTCGTCCCAGCCTCTCTTTGCTTTCACCTGGACTGACCCTGGCACCCATCAGTCCCAGCAGCTTACCTGGGCTGTGCTGCCGCAAGGTTTCAGGGACAGCCTTCATTACTTCAGCCAAGCTGTTTCTCATGATTTACTTTCTTTCCACTCCCCCGCTTCTCACCTTATTCAATATATTGATGACCTTCTTCTTTGTAGCCCCTCCTTTGAATCTTCTCAACAAGACACCCTTCTGCTCCTTCAGCATTTATTCTCCAAAGGATATCTGGTATCCCCCTCCAAAGCTCGAATTTCTTCTCCATCTGTTACCTACCTTGGCATAATTCTTCATAAAAACACACTGCTCTCCCTGCCAATCATGTCCTACTGATCTCTCAAACCCCAACCCCTTCTACAAAACAGCAACTCCTTTCCTTCCTAGGCATGGTTGGATACTTTCAACTTTGGATACCTGGTTTTGCCATCCTACCAAAACCATTATATAAACTCACAAAAGGAAACCTAGTTGACCCCATAGATCTTAAATCCTTTTCCCACTCCTCTTTCCGTTCCTTGAAGACAGCTTTAGAGACTGCCCCCACTCTAGCTCTCCCTGACTCATCCCAACCCTTTTCATTACACACAGCCTAAGTGCAGGGCTGTGCAGTCGGAATTCTTACACAAGGACTGGGATCACGTCCTGCAGCCTTTTTGTCCAAACAACTTGACCTCAATGTTTTAGGCTGGCCATCATGTCTCCGTGCAGCGGCTCCTGCTGCCCTAATACTTTTAGAGGCCCTCAAAATCACAAACTATGCTCAACTCACTCTCTACAGCTCTCATAACTTCCAAAATCTATTTTCTTCCTCACACCTGACCATATACTTTCTGCTCCCCAGCTCCTTCAGCTATACTCACTCTGTTGAGTCTCCCACAGTTACCATTGTTCCTAGCCTGGACTTCAATCCGGCCTCCAACATTATTCCAGATACCACACCTGACCCTCATGACTGCCTCTCTGATCCACCTGACATTCACCCCATTTCCCCATATTTCCTTCTTCCCTGTTCCTCACCCTGATCACATTTGGTTTATTGATGGCGGTTCCACCAGGCCTAATCGCCACTCACCAGCAAAGGCAGGCTATGCAATAGTATCTTCCACATCTATCATTGAGGCTACCGCTCTGCCCCCCTCCACTACCTCTCAGCAAGCCGAACTAGTTGCCTTAACTCGGGCCCTCACTCTTGCAAAGGGACTACGCATTAATATTTATACTGACTCTAAATATGCCTTCCATATTCTGCACCACCATGCAGTTATATGGGCTGAAAGAGGTTTTCTCACTACGCAAGGTCCTGCATCATTAATGCCTCTTTAATAAAAACTCTGCTCATGGCCGCTTTACTTCCAAAGGAAGCTGGAGTCATTCACTGCAAGGGGCATCAAAAGGCGTCCGATTGAGAGGTGACAGCGTGCTGGCAGTCCTTACAGCCCTCGCTCGCTCTGGGCGCCTCCTCTGCCTGGGCTCCCACTTTGGCGGCACTTGAGGAGCCCTTCAGCCCGCCGCTGCACTGTGGGAGCCCCTTTGTGGGCTGGCCAAGGCCAGAGCTGGCTCTGTCAGCTTGCGGGGAGGTGTGGAGTGAGAGGCGCGAGCGGGAACCGGGGCTGTAGGCGGCGCTTGCGGGCCAGCTAGAGTTCCAGGTGGGCGTGGGCTTGGTGGGCCCCGCACTCGGAGCAGCCAGCCGGCCCTGCCGGCCCCAGGCAATGAGGGGCTTAGCACCAGGGCCAGCGGCTGCAGAGGGTGTACTGGGTCCCCCAGCAGTGCCAACCCACCGGCGCTATGCTCGATTTCTCACCGGGCCTTAGCTACCTCCCCGCGGGGCAGGGCTGTACCTGCAGCCCACCATGCCTGAGCCTCCCACCCTCTCCATGGGCTCCTGCGCGGCCCCAGCCTCCCCGATGAGCGCCGCCCCCTGCTCCACAGCACCCAGTCCCATCAACCACCCAAGGGCTGAGGAGTGCGGGCGCAGGGCGTGGGACTGGCAGGCAGCTCTACCTGCAGCCCCGGTACAGGATCCACTGGGTGAAGCCAGCTAGGCTCCTGAGTCTGGTGGGGACGTGGAGAACCTTTATGTCTAGCCCAGGGATTGCAAATACACCAATCGGCACTCTGTATCTAGCCCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTCTAGCTCACGGTTTGTGAATGCACCAATCAACACTGTATCTAGCTACTCTGGTGGGGCCTTGGAGAACCTTTGTGTCGACACTCTGTATCTAGTTAATCTGGTGGGGACGTGGAGAACCTTTGTCTAGCTCAGGGATTGTAAACGCACCAATCAGCACCCTGTCAAAACAGACCACTAGGCTCTACCAATCAGCAGGATGTGGGTGGGGCCAGATAAGAGAATAAAAGCAGGCTGCCTGAGCCAGCAGTGGTAACCCACGACAGTTCTCTTCCACGCCGTGGAAGCTTTATTTTTTCGCTCTTTGGGTCCACACTGTTTTTATTGAGCTGTAACACCATGAAGGTTTGTAGCTTCACTTAAGCCAGCGTAGACCATGAGCCCCCTGGGAGGAACAAACAACTCTGGATGCGCTGCCTTAAAGAGTTCTTAACACTCACTGTGAAGGTCTGCAGCTTCACTCCTGAGCTAGTGAGACGACGAACACATCCGTAACAGCAGAAACAAACTCTGGATGCACCACCTTAAGAGCTGTACCACTCACTTCGAGGGTCTGTGGCTTCATTCTTGAAGTCAGTGAGACCAAGAATCCACCAATTCCAGACACATAGATCCTATTGCTCTAGGCAACGCTTATGCTGATGAGGTGGCTAGACAAGCAGCTAGCATTCCAACTTCTGTCTGTCATGGCCAGTTTTTCCCCCTACACGTTGGTCACTCCCACTTACTCCCCCGCTGAAACTTCCACCATATCAATCTCTTCCCACACAAGGCAAATGGTTCTTAGGCCAAGGAAAATATCTCCTTCCAGCCTTACAGGCCCATTCTATTCTGTCATCATTTCATAACCTTCCATGTAGGTTACAAGCCGCTAGCCCGTCTCTCAGAACCTCTCGTTTCCTTTCCATCATGGAAATCTATCCTCAAGGAAATAACTTCTCAGTGTTCTATCTGCTATTCTACTCAGGGATTGTTCAGGCCCCCTCCCTTCCCTACACATCAAGCTCGGGGATTTGCCCCTGCCCAGGACTGGCAAATTGACTTTACTCACATACCCTGAGTCAGAAAACTAAAATACCTCTTGGTCTGGGTAGACACTTTCACTGGATGGGTAGAAGCCTTTCCCACAGGGTCTGAGAAGGCCACCGCGGTCATTTCTTCCCTTCTGTCAGACATAATTCCTCGGTTTGGCCTTCCCACCTCTATACAGTCTGATAACGGACCAGCCTTTATTAGTCAAATCACCCAAGCAGGTTTTCAGGCTCTTAGTATTCAGTGAAACCTTCGTATCCGTCACCGTCCTCAATCTTCAGGAAAGGTAGAACAGACTAATGGTCTTTTAAAAACAGAACTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTCACCACTTTCCCTTCTCAGAAGTCAGACCTGTCCTCGGAATGCTACAGGGTACAGCACATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAGGCCCCAGTCTCATTCCAGACACCAGACCAACTTGGACTGCACCCCAAAAAACTTGTCATCCCTACTATCTTCTGTCTAGTCATACTCCTATTCACCGTTCTCAACTACTCATAAATGCTCTGCTCTTGTTTACACTGCCCTTTTTCACTGTTTCTCCAAGCCATCACAGCTGATATCTCCTGGTGCTATCCCGAAACTGCCACTCTTAACTCCCTGTTAAAGTAAATAAATAATCTTTGCTGGCAGGACTATGCTGAACCTCCTTAGGCACTCTCTAATTGGATGTCCAGGGTCCTCCCAATTCTTAGTCCTTTAATACCTGTTTTTCTCCTTCTTATTCCGTTCTTTTTTCAATTCATATAAAACCGTATCCAGGCCATCACCAATAATTCTATACGACAAATGTTTCTTCTAACAACCACACAATATCACCCCTTACCACAAAATCTTCCTTCAGCTTAATCTCTCCCATGCTAGGTTCCCACGCCACCCCTAATCCCAGCCCTGAGAAACATCGCCCATTATCTCTCCATACCACCCCCAAAAATTTTCACCACCCCAACACTTTGCCACTATTTCATTTTATTTTTCTTATTAATATAAGAAGACAGGAATGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATATTCTGTGACCTGCACATACACATCCAGATGGCCGGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGCCTGTTCCTGCCTTAACTCATGACATTATCTTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGCTCCCCCACTGAGCACCTTGTGACCCCCACTCCTGCCCACCAGAGAACAACACCCTTTGACTATAATTTTCCTTTACCTACCCAAATCCTATAAAACGGCCCCACCCCTATCTCCCTTTGCTGACTCACTTTTCGGACTCAGCCCGCCTGCACCCAGATGAAATAAACAACCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACGCGAGTGAAACTGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTCGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTTATAATTTTTTTTTTTTTTTTTTTTTAAGAGACAGTGCCCTGCTCTGTTATCCAGGAAGGAGTGTGGTGGCATGATCATGGATTACTGCAACTTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTAGCCCCAAGGAAATAATTTAATACCAATCAATGAAGGCCTTTTTCTGATGAAAAGCTCTTTCAAGAATGTTTACGTGGAGCCACAGACTTTTCCTGGTTGTAAAGAACCTAAAGGTTGTATATTTAAAAATTAAAAGATATTCCAGCTGGGTGTGGTGGCTCATGCCTGTAATGCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCTGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGATCGAGACTCAGTCTCGGAAAAAAAAAAAAAAAAAAAAATTAAAAGATAGTCCAAGATTATCATGGCTTCTCTATGCAGAATCCCTGATGGGAAGTTATACAGCCTATCCCTGAACACCTCCCTTGACAAGGTGCTCCTACAGAGCCAGTGATTGCACACATATGTGACAAGTAATTTACATGTGCATTTCATTTAATCCTCATAATAATTGCCTTCTGAAGTGGCTACCATGATCACCATTTTTTGGACAAAGAAGGTATGGCTCAGAGAGATTAAAATCCTTGCCCAAGGCCATACAACTAGGAAGGAAAAAAAATAACTTACTTTAGGAACACAGGTTCATCTGTTCCAGAGGCTGTGCTGTTTCCACTCTGGGGTAGGCAGGACTCTAAGGTGGCCCAAGATTCACCTGGCTCGTGGTATATACTGTTGGCAAAATGAGTCAAACTCTGTAAAATATTCGAAGAGGTTTATTCTGAGCCAAATATGAGTGACTAATGGCCCATGATACCGTCCTCAGGAGGTCTTGAGAACATGGGCCCAAGGTGGTCAGGGTCCAGTTTGCTTTTATACATTTTAGGGACACAGAAGGCGTCGATCAATACATATAAGATATACATTGGTTTGGTCTGGAAGGGTAGGACAACTGGAAGGAGGGGGGCTTCCAAGTCATAGATAGATTCAAAGGTTTTCTGACTGACAATATGTAGAAAGAGTTATCAATAGAATGCCTGGGTTATGATAAGGGATTGTGGAGACCAAGGTTTTGTCATGCAGATGAAGCCTTCAGGTAGCAGGCTTCAGAGAGAATAGATTGTAAACGTTTCTCATCAGACTTTAAGAGTCTGTTCTATCAGCATTTCCAAACGGGAGGAGGGAATGCAGAGACATGTCCAGCTCCCACTTCCCATCATTGCCTGAATGAGTTTTTCAGGTTAACTTTGAATGACCTTGGCTGAGAGGAGGGTTCCATTCAGATGGTTGGGGGGGCCTTAGAATTTTATTTTTGTTTTACAACACTCACCTTTTCCCGGTTGTTCAATCAAGCATAAATCTAGGTACTGCTGTGACAGGATTTTGCAGGTGCAATTAAGTTTCCAAGTCAGTTGACCTTAAGATAGAGAGATGATCTCATTGGCCTCCCCTAATCACATGAGCCCTTTTGAAGAAGAAGATTTCTCCACCCATTGACAGACAGGATATTCGAGTTTGGAAGCAGTAGAGACCCCCTCCTGATGACCTTGAAGGATCCGATAGCCTGCTATGGAGAGGGCCATGTGGCAGGGAACAGAAGGCAGCCCCCAGGAGCAGGAAGCAGCCTCTGCTCAAAGGCCAGCAAGAAAACGGGAACCTCGGCCTATGACCGTGAGGACCTGGCCCCTGCTGAGCACGTGAGCAAGCATGGGAGAGGCCCCTGAGCTCCTGATGAGTGCAGCCCTCCCAGACCTGCTGGACTCCCAAGCAACGGAAACTGTAAGGTGATCCTGGTGCGTTAAGCTGCTGACTTTGTGGTAACCTGTTAAAATAGCAAACTGGTAGACGAGTTCTTCTTTGATGAGTGATGTAGGTCAGGTGCCCCAAAGCACGCCTTGAGGCTAGGATCTGAGTGGAAGGTGATGAGGGCAGTGTCTGTCCTGGGAAGCGTTGGAAGTGCTGTGGGGAACAGAGCCAGGAAAGAGAAGGAAGCCAAGGGGCTGCCTCAGAACAGGTCACTGCTGCAGGTGGCAAGGGTTCAACCCAGGGGCATCTGTCAGAGACCAGGCAGAACTTCACTCTGCGTCGCCCCACCTGAGTGGAGGGGAGCTGGCTACTTAGCCTCCAGAAAGAGGTTTACCTTGCTGCACAAGTGACCCCTGGGGCAGGTCACAGTTTTTTTCAGTAAGAAGCCATCAGCAGGTCTGAGAAAAACAATGGCCAAAGGCACAGGGTGGGTCCAACAGTGTCTGCTACAAAGAATTTTGATGGGAAAGTCCTTGTATCCACTGACAGTGGCCTTCAGCCATTGGACCTGCTGTGTCCCCTTAGCTGACCCGTCTGTCTTCTGCAGCTGCCATTCAGATTCCTGTCATTTTCATGCTGCAGCAGTGCTCTCCTCACTAGCTAAGCATTTCTAGTCCCTCTCTGGACCCACCATGAAGCAGGATTTTAAATACTTTGTAATCTAGAGAGGCACTGGACTCAGAGCTGAATGCAAAGGCCAGAGATGCTCTCACTCATTTAGTTGTTCTTGTCTGAAGGCTGGGATGATGCAGGTCTGATTACGTCACCGCTGGAGAGCCTCATCACACTGGTGACTCACAGGAAGCTGTCCTGGTTCTTTGTGCAGCTGCTGAAGAACATTTCACTTTCCCCGCCCCACTCCTCTCAGTGTATGGATGCTAGGCAAGGGCATGTCACCTGCGGGGTGAGCTCGGGCACCATGAGCGCCCGGTACTGCTGGCTGCCCCAGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTACGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGAGTTCATGATGCGGTCTGGGTACTCTTCCCGGA	NONE	.	.	.	.	.	ENSP00000369703	.	1-4/4	.	.	.	.	.	.	.	.	.	1-4/4	nonpreferredpair	ENST00000333628	Transcript	.	.	ENSG00000137267	12412	.	.	HIGH	1-3/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBB2A_HUMAN	TUBB2A	HGNC	.	.	UPI000000DC98	deletion	TUBB2A,splice_acceptor_variant,,ENST00000333628,;BPHL,downstream_gene_variant,,ENST00000380368,;BPHL,downstream_gene_variant,,ENST00000380379,;BPHL,downstream_gene_variant,,ENST00000423798,;BPHL,downstream_gene_variant,,ENST00000380375,;BPHL,downstream_gene_variant,,ENST00000434640,;RP1-40E16.11,upstream_gene_variant,,ENST00000447644,;TUBB2A,splice_acceptor_variant,,ENST00000489942,;BPHL,downstream_gene_variant,,ENST00000464040,;BPHL,downstream_gene_variant,,ENST00000490918,;BPHL,downstream_gene_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000424847,;BPHL,downstream_gene_variant,,ENST00000430655,;BPHL,downstream_gene_variant,,ENST00000433912,;TUBB2BP1,non_coding_transcript_exon_variant,,ENST00000404155,;	?-532	362	391	FAILED
FEN1	2237	.	GRCh37	11	61564409	61564409	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs747886932	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	5	141	1	ENST00000305885.2:c.*433A>G			ENST00000305885	NM_004111.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8010.1	.	MUTECT|MUSE	.	CCTTGAGAGAG	NONE	.	.	.	.	.	ENSP00000305480	.	2/2	.	.	.	.	.	.	.	.	rs747886932	2/2	PASS	ENST00000305885	Transcript	.	.	ENSG00000168496	3650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FEN1_HUMAN	FEN1	HGNC	Q6FHX6_HUMAN,F5H1Y3_HUMAN,B4DWZ4_HUMAN	.	UPI0000050E0F	SNV	FEN1,3_prime_UTR_variant,,ENST00000305885,;FEN1,3_prime_UTR_variant,,ENST00000535307,;FADS2,intron_variant,,ENST00000574708,;FEN1,downstream_gene_variant,,ENST00000535723,;TMEM258,upstream_gene_variant,,ENST00000537328,;FADS1,downstream_gene_variant,,ENST00000350997,;TMEM258,upstream_gene_variant,,ENST00000543510,;MIR611,upstream_gene_variant,,ENST00000384869,;TMEM258,upstream_gene_variant,,ENST00000545210,;TMEM258,upstream_gene_variant,,ENST00000540434,;TMEM258,upstream_gene_variant,,ENST00000535297,;TMEM258,upstream_gene_variant,,ENST00000541893,;TMEM258,upstream_gene_variant,,ENST00000257262,;	1989	142	144	SUCCESS
CPM	1368	.	GRCh37	12	69250148	69250148	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	28	0	ENST00000338356.3:c.*69C>A			ENST00000338356				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8987.1	.	RADIA|SOMATICSNIPER|MUSE	.	TTAGGGTTGCA	NONE	.	.	.	.	.	ENSP00000448517	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000551568	Transcript	.	.	ENSG00000135678	2311	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBPM_HUMAN	CPM	HGNC	H0YHG6_HUMAN,F8W111_HUMAN,F8VVI6_HUMAN	.	UPI00001271D4	SNV	CPM,3_prime_UTR_variant,,ENST00000338356,;CPM,3_prime_UTR_variant,,ENST00000546373,;CPM,3_prime_UTR_variant,,ENST00000551568,;CPM,intron_variant,,ENST00000551897,;CPM,3_prime_UTR_variant,,ENST00000546556,;	1462	28	20	SUCCESS
TCHHL1	126637	.	GRCh37	1	152057431	152057433	+	3_prime_UTR_variant	3'UTR	DEL	GAT	GAT	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	GAT	GAT	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	122	0	ENST00000368806.1:c.*10_*12del			ENST00000368806	NM_001008536.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30857.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTGAGATGATAA	NONE	.	.	.	.	.	ENSP00000357796	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368806	Transcript	.	.	ENSG00000182898	31796	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TCHL1_HUMAN	TCHHL1	HGNC	.	.	UPI0000496834	deletion	TCHHL1,3_prime_UTR_variant,,ENST00000368806,;	2790-2792	122	90	SUCCESS
KCNE4	23704	.	GRCh37	2	223918206	223918206	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	77	0	ENST00000281830.3:c.*145G>C			ENST00000281830	NM_080671.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGGGGGAC	NONE	.	.	.	.	.	ENSP00000473755	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000604125	Transcript	.	.	ENSG00000152049	6244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNE4_HUMAN	KCNE4	HGNC	Q2N1I0_HUMAN,A5H1P5_HUMAN	.	UPI000013DCA0	SNV	KCNE4,3_prime_UTR_variant,,ENST00000604125,;KCNE4,3_prime_UTR_variant,,ENST00000281830,;KCNE4,intron_variant,,ENST00000488477,;	812	77	49	SUCCESS
GPR6	2830	.	GRCh37	6	110301831	110301831	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs112203928	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	78	0	ENST00000275169.3:c.*427A>C			ENST00000275169	NM_005284.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTATTTTT	NONE	.	.	.	.	.	ENSP00000275169	.	1/1	.	.	.	.	.	.	.	.	rs112203928	1/1	PASS	ENST00000275169	Transcript	.	.	ENSG00000146360	4515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR6_HUMAN	GPR6	HGNC	F1DAM6_HUMAN,E7EP76_HUMAN	.	UPI000000DA4A	SNV	GPR6,3_prime_UTR_variant,,ENST00000275169,;GPR6,downstream_gene_variant,,ENST00000414000,;	1534	78	58	SUCCESS
WDR27	253769	.	GRCh37	6	169857626	169857626	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	56	0	ENST00000448612.1:c.*61A>T			ENST00000448612	NM_182552.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47520.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTACTTT	NONE	.	.	.	.	.	ENSP00000416289	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000448612	Transcript	.	.	ENSG00000184465	21248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR27_HUMAN	WDR27	HGNC	F8VUY7_HUMAN	.	UPI00015E06AF	SNV	WDR27,3_prime_UTR_variant,,ENST00000448612,;WDR27,3_prime_UTR_variant,,ENST00000333572,;WDR27,3_prime_UTR_variant,,ENST00000423258,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;	2859	56	43	SUCCESS
HIST1H1D	0	.	GRCh37	6	26234479	26234479	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1300545235	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	26	0	ENST00000244534.5:c.*17C>T			ENST00000244534	NM_005320.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4597.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGGGAACG	NONE	.	.	.	.	.	ENSP00000244534	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244534	Transcript	.	.	ENSG00000124575	4717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H13_HUMAN	HIST1H1D	HGNC	.	.	UPI0000000E14	SNV	HIST1H1D,3_prime_UTR_variant,,ENST00000244534,;HIST1H2APS3,downstream_gene_variant,,ENST00000403259,;	738	26	31	SUCCESS
FEN1	2237	.	GRCh37	11	61564409	61564409	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs747886932	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	138	5	148	0	ENST00000305885.2:c.*433A>G			ENST00000305885	NM_004111.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8010.1	.	MUTECT|MUSE	.	CCTTGAGAGAG	NONE	.	.	.	.	.	ENSP00000305480	.	2/2	.	.	.	.	.	.	.	.	rs747886932	2/2	nonpreferredpair	ENST00000305885	Transcript	.	.	ENSG00000168496	3650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FEN1_HUMAN	FEN1	HGNC	Q6FHX6_HUMAN,F5H1Y3_HUMAN,B4DWZ4_HUMAN	.	UPI0000050E0F	SNV	FEN1,3_prime_UTR_variant,,ENST00000305885,;FEN1,3_prime_UTR_variant,,ENST00000535307,;FADS2,intron_variant,,ENST00000574708,;FEN1,downstream_gene_variant,,ENST00000535723,;TMEM258,upstream_gene_variant,,ENST00000537328,;FADS1,downstream_gene_variant,,ENST00000350997,;TMEM258,upstream_gene_variant,,ENST00000543510,;MIR611,upstream_gene_variant,,ENST00000384869,;TMEM258,upstream_gene_variant,,ENST00000545210,;TMEM258,upstream_gene_variant,,ENST00000540434,;TMEM258,upstream_gene_variant,,ENST00000535297,;TMEM258,upstream_gene_variant,,ENST00000541893,;TMEM258,upstream_gene_variant,,ENST00000257262,;	1989	148	144	SUCCESS
CPM	1368	.	GRCh37	12	69250148	69250148	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	42	0	ENST00000338356.3:c.*69C>A			ENST00000338356				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8987.1	.	RADIA|SOMATICSNIPER|MUSE	.	TTAGGGTTGCA	NONE	.	.	.	.	.	ENSP00000448517	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000551568	Transcript	.	.	ENSG00000135678	2311	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CBPM_HUMAN	CPM	HGNC	H0YHG6_HUMAN,F8W111_HUMAN,F8VVI6_HUMAN	.	UPI00001271D4	SNV	CPM,3_prime_UTR_variant,,ENST00000338356,;CPM,3_prime_UTR_variant,,ENST00000546373,;CPM,3_prime_UTR_variant,,ENST00000551568,;CPM,intron_variant,,ENST00000551897,;CPM,3_prime_UTR_variant,,ENST00000546556,;	1462	42	20	SUCCESS
TCHHL1	126637	.	GRCh37	1	152057431	152057433	+	3_prime_UTR_variant	3'UTR	DEL	GAT	GAT	-	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	GAT	GAT	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	93	0	ENST00000368806.1:c.*10_*12del			ENST00000368806	NM_001008536.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30857.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTTGAGATGATAA	NONE	.	.	.	.	.	ENSP00000357796	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000368806	Transcript	.	.	ENSG00000182898	31796	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TCHL1_HUMAN	TCHHL1	HGNC	.	.	UPI0000496834	deletion	TCHHL1,3_prime_UTR_variant,,ENST00000368806,;	2790-2792	93	90	SUCCESS
KCNE4	23704	.	GRCh37	2	223918206	223918206	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	95	0	ENST00000281830.3:c.*145G>C			ENST00000281830	NM_080671.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTGGGGGAC	NONE	.	.	.	.	.	ENSP00000473755	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000604125	Transcript	.	.	ENSG00000152049	6244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNE4_HUMAN	KCNE4	HGNC	Q2N1I0_HUMAN,A5H1P5_HUMAN	.	UPI000013DCA0	SNV	KCNE4,3_prime_UTR_variant,,ENST00000604125,;KCNE4,3_prime_UTR_variant,,ENST00000281830,;KCNE4,intron_variant,,ENST00000488477,;	812	95	49	SUCCESS
GPR6	2830	.	GRCh37	6	110301831	110301831	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs112203928	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	10	85	0	ENST00000275169.3:c.*427A>C			ENST00000275169	NM_005284.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTATTTTT	NONE	.	.	.	.	.	ENSP00000275169	.	1/1	.	.	.	.	.	.	.	.	rs112203928	1/1	nonpreferredpair	ENST00000275169	Transcript	.	.	ENSG00000146360	4515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR6_HUMAN	GPR6	HGNC	F1DAM6_HUMAN,E7EP76_HUMAN	.	UPI000000DA4A	SNV	GPR6,3_prime_UTR_variant,,ENST00000275169,;GPR6,downstream_gene_variant,,ENST00000414000,;	1534	85	58	SUCCESS
WDR27	253769	.	GRCh37	6	169857626	169857626	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	37	0	ENST00000448612.1:c.*61A>T			ENST00000448612	NM_182552.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47520.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTTACTTT	NONE	.	.	.	.	.	ENSP00000416289	.	26/26	.	.	.	.	.	.	.	.	.	26/26	nonpreferredpair	ENST00000448612	Transcript	.	.	ENSG00000184465	21248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	WDR27_HUMAN	WDR27	HGNC	F8VUY7_HUMAN	.	UPI00015E06AF	SNV	WDR27,3_prime_UTR_variant,,ENST00000448612,;WDR27,3_prime_UTR_variant,,ENST00000333572,;WDR27,3_prime_UTR_variant,,ENST00000423258,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;	2859	37	43	SUCCESS
HIST1H1D	0	.	GRCh37	6	26234479	26234479	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1300545235	.	TCGA-DD-A4NQ-01	TCGA-DD-A4NQ-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	36	0	ENST00000244534.5:c.*17C>T			ENST00000244534	NM_005320.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4597.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGGGAACG	NONE	.	.	.	.	.	ENSP00000244534	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000244534	Transcript	.	.	ENSG00000124575	4717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H13_HUMAN	HIST1H1D	HGNC	.	.	UPI0000000E14	SNV	HIST1H1D,3_prime_UTR_variant,,ENST00000244534,;HIST1H2APS3,downstream_gene_variant,,ENST00000403259,;	738	36	31	SUCCESS
ITGAX	3687	.	GRCh37	16	31393346	31393346	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	17	0	ENST00000268296.4:c.*118G>A			ENST00000268296	NM_000887.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10711.1	.	MUTECT|MUSE	.	GGCCTGCTTCC	NONE	.	.	.	.	.	ENSP00000268296	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000268296	Transcript	.	.	ENSG00000140678	6152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITAX_HUMAN	ITGAX	HGNC	B4DDX0_HUMAN	.	UPI00001C0366	SNV	ITGAX,3_prime_UTR_variant,,ENST00000268296,;ITGAX,intron_variant,,ENST00000562522,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	3731	17	20	SUCCESS
FCRL3	115352	.	GRCh37	1	157646381	157646381	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs985902004	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	31	0	ENST00000368184.3:c.*2119G>A			ENST00000368184	NM_052939.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1167.1	.	MUTECT|MUSE	.	TAGAGCACTGC	NONE	.	.	.	.	.	ENSP00000357167	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,3_prime_UTR_variant,,ENST00000368186,;FCRL3,3_prime_UTR_variant,,ENST00000368184,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,intron_variant,,ENST00000457799,;FCRL3,downstream_gene_variant,,ENST00000473231,;FCRL3,downstream_gene_variant,,ENST00000468507,;FCRL3,3_prime_UTR_variant,,ENST00000485028,;FCRL3,3_prime_UTR_variant,,ENST00000477837,;FCRL3,3_prime_UTR_variant,,ENST00000492769,;	4616	31	43	SUCCESS
FMO2	2327	.	GRCh37	1	171178210	171178210	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	18	0	ENST00000209929.7:c.*118G>T			ENST00000209929				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1293.1	.	MUTECT|MUSE	.	TCTCAGTTTCT	NONE	.	.	.	.	.	ENSP00000405905	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000441535	Transcript	.	.	ENSG00000094963	3770	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FMO2_HUMAN	FMO2	HGNC	B4E2Q9_HUMAN	.	UPI000013C672	SNV	FMO2,3_prime_UTR_variant,,ENST00000209929,;FMO2,3_prime_UTR_variant,,ENST00000441535,;RP1-127D3.4,intron_variant,,ENST00000445290,;RP1-127D3.4,intron_variant,,ENST00000422841,;RP1-127D3.4,intron_variant,,ENST00000445909,;FMO2,non_coding_transcript_exon_variant,,ENST00000488431,;FMO2,non_coding_transcript_exon_variant,,ENST00000529935,;	1651	18	23	SUCCESS
DFFB	1677	.	GRCh37	1	3800368	3800368	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	37	0	ENST00000378209.3:c.*63C>G			ENST00000378209	NM_004402.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS52.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCCTTTT	NONE	.	.	.	.	.	ENSP00000367454	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000378209	Transcript	.	.	ENSG00000169598	2773	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFFB_HUMAN	DFFB	HGNC	Q96P72_HUMAN	.	UPI000006230F	SNV	DFFB,3_prime_UTR_variant,,ENST00000378209,;AL691523.1,upstream_gene_variant,,ENST00000579705,;DFFB,splice_region_variant,,ENST00000461150,;DFFB,3_prime_UTR_variant,,ENST00000477548,;DFFB,3_prime_UTR_variant,,ENST00000491998,;DFFB,3_prime_UTR_variant,,ENST00000475969,;DFFB,3_prime_UTR_variant,,ENST00000468793,;DFFB,3_prime_UTR_variant,,ENST00000378206,;DFFB,3_prime_UTR_variant,,ENST00000339350,;	1403	37	32	SUCCESS
P4HTM	54681	.	GRCh37	3	49044348	49044348	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	42	0	ENST00000383729.4:c.*8G>A			ENST00000383729	NM_177939.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2781.2	.	MUTECT|MUSE|VARSCANS	.	GAAGAGTTAGC	NONE	.	.	.	.	.	ENSP00000341422	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000343546	Transcript	.	.	ENSG00000178467	28858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P4HTM_HUMAN	P4HTM	HGNC	.	.	UPI0000209C68	SNV	P4HTM,3_prime_UTR_variant,,ENST00000383729,;P4HTM,3_prime_UTR_variant,,ENST00000491739,;P4HTM,3_prime_UTR_variant,,ENST00000343546,;WDR6,upstream_gene_variant,,ENST00000491365,;WDR6,upstream_gene_variant,,ENST00000419837,;WDR6,upstream_gene_variant,,ENST00000395474,;WDR6,upstream_gene_variant,,ENST00000608424,;P4HTM,downstream_gene_variant,,ENST00000472796,;WDR6,upstream_gene_variant,,ENST00000448293,;WDR6,upstream_gene_variant,,ENST00000415265,;WDR6,upstream_gene_variant,,ENST00000429900,;WDR6,upstream_gene_variant,,ENST00000489427,;WDR6,upstream_gene_variant,,ENST00000438660,;P4HTM,downstream_gene_variant,,ENST00000444213,;P4HTM,downstream_gene_variant,,ENST00000486817,;P4HTM,downstream_gene_variant,,ENST00000468374,;WDR6,upstream_gene_variant,,ENST00000489684,;WDR6,upstream_gene_variant,,ENST00000461687,;WDR6,upstream_gene_variant,,ENST00000472878,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;WDR6,upstream_gene_variant,,ENST00000452875,;WDR6,upstream_gene_variant,,ENST00000471162,;WDR6,upstream_gene_variant,,ENST00000488572,;WDR6,upstream_gene_variant,,ENST00000462064,;WDR6,upstream_gene_variant,,ENST00000473238,;WDR6,upstream_gene_variant,,ENST00000420783,;P4HTM,downstream_gene_variant,,ENST00000485210,;	2068	42	32	SUCCESS
TUSC1	286319	.	GRCh37	9	25677591	25677591	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs777133986	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	9	0	ENST00000358022.3:c.*90C>G			ENST00000358022	NM_001004125.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34999.1	.	MUTECT|MUSE	.	GGAGCGGGCCA	NONE	.	.	.	.	.	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	rs777133986	1/1	PASS	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,3_prime_UTR_variant,,ENST00000358022,;	1266	9	11	SUCCESS
SPANXN1	494118	.	GRCh37	X	144337470	144337470	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	67	0	ENST00000370493.3:c.*136G>T			ENST00000370493	NM_001009614.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35421.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGACCTA	NONE	.	.	.	.	.	ENSP00000359524	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000370493	Transcript	.	.	ENSG00000203923	33174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPXN1_HUMAN	SPANXN1	HGNC	.	.	UPI0000458AF7	SNV	SPANXN1,3_prime_UTR_variant,,ENST00000370493,;	1114	67	75	SUCCESS
CACNA1F	778	.	GRCh37	X	49061566	49061566	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	15	0	ENST00000376265.2:c.*31C>G			ENST00000376265	NM_005183.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGTTTAT	NONE	.	.	.	.	.	ENSP00000365441	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,3_prime_UTR_variant,,ENST00000376265,;CACNA1F,3_prime_UTR_variant,,ENST00000323022,;CACNA1F,3_prime_UTR_variant,,ENST00000376251,;SYP,upstream_gene_variant,,ENST00000479808,;SYP,upstream_gene_variant,,ENST00000263233,;CACNA1F,downstream_gene_variant,,ENST00000486943,;SYP,upstream_gene_variant,,ENST00000472598,;SYP,upstream_gene_variant,,ENST00000538567,;AF196779.1,upstream_gene_variant,,ENST00000583131,;SYP-AS1,downstream_gene_variant,,ENST00000433499,;SYP,upstream_gene_variant,,ENST00000466635,;SYP,upstream_gene_variant,,ENST00000469389,;SYP,upstream_gene_variant,,ENST00000494396,;CACNA1F,downstream_gene_variant,,ENST00000481035,;SYP,upstream_gene_variant,,ENST00000376303,;SYP,upstream_gene_variant,,ENST00000472737,;	6027	15	23	SUCCESS
ITGAX	3687	.	GRCh37	16	31393346	31393346	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	22	0	ENST00000268296.4:c.*118G>A			ENST00000268296	NM_000887.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10711.1	.	MUTECT|MUSE	.	GGCCTGCTTCC	NONE	.	.	.	.	.	ENSP00000268296	.	30/30	.	.	.	.	.	.	.	.	.	30/30	nonpreferredpair	ENST00000268296	Transcript	.	.	ENSG00000140678	6152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITAX_HUMAN	ITGAX	HGNC	B4DDX0_HUMAN	.	UPI00001C0366	SNV	ITGAX,3_prime_UTR_variant,,ENST00000268296,;ITGAX,intron_variant,,ENST00000562522,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	3731	22	20	SUCCESS
SPRR1B	6699	.	GRCh37	1	153005269	153005269	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	32	100	0	ENST00000307098.4:c.*178G>T			ENST00000307098	NM_003125.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30863.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTAGTACCA	NONE	.	.	.	.	.	ENSP00000306461	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000307098	Transcript	.	.	ENSG00000169469	11260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,3_prime_UTR_variant,,ENST00000307098,;SPRR1B,downstream_gene_variant,,ENST00000392661,;	513	100	108	SUCCESS
FCRL3	115352	.	GRCh37	1	157646381	157646381	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs985902004	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	39	0	ENST00000368184.3:c.*2119G>A			ENST00000368184	NM_052939.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1167.1	.	MUTECT|MUSE	.	TAGAGCACTGC	NONE	.	.	.	.	.	ENSP00000357167	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000368184	Transcript	.	.	ENSG00000160856	18506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FCRL3_HUMAN	FCRL3	HGNC	R4GNJ6_HUMAN	.	UPI000006D60E	SNV	FCRL3,3_prime_UTR_variant,,ENST00000368186,;FCRL3,3_prime_UTR_variant,,ENST00000368184,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,intron_variant,,ENST00000457799,;FCRL3,downstream_gene_variant,,ENST00000473231,;FCRL3,downstream_gene_variant,,ENST00000468507,;FCRL3,3_prime_UTR_variant,,ENST00000485028,;FCRL3,3_prime_UTR_variant,,ENST00000477837,;FCRL3,3_prime_UTR_variant,,ENST00000492769,;	4616	39	43	SUCCESS
FMO2	2327	.	GRCh37	1	171178210	171178210	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	16	0	ENST00000209929.7:c.*118G>T			ENST00000209929				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1293.1	.	MUTECT|MUSE	.	TCTCAGTTTCT	NONE	.	.	.	.	.	ENSP00000405905	.	9/10	.	.	.	.	.	.	.	.	.	9/10	nonpreferredpair	ENST00000441535	Transcript	.	.	ENSG00000094963	3770	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FMO2_HUMAN	FMO2	HGNC	B4E2Q9_HUMAN	.	UPI000013C672	SNV	FMO2,3_prime_UTR_variant,,ENST00000209929,;FMO2,3_prime_UTR_variant,,ENST00000441535,;RP1-127D3.4,intron_variant,,ENST00000445290,;RP1-127D3.4,intron_variant,,ENST00000422841,;RP1-127D3.4,intron_variant,,ENST00000445909,;FMO2,non_coding_transcript_exon_variant,,ENST00000488431,;FMO2,non_coding_transcript_exon_variant,,ENST00000529935,;	1651	16	23	SUCCESS
DFFB	1677	.	GRCh37	1	3800368	3800368	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	10	37	0	ENST00000378209.3:c.*63C>G			ENST00000378209	NM_004402.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS52.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGCCTTTT	NONE	.	.	.	.	.	ENSP00000367454	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000378209	Transcript	.	.	ENSG00000169598	2773	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DFFB_HUMAN	DFFB	HGNC	Q96P72_HUMAN	.	UPI000006230F	SNV	DFFB,3_prime_UTR_variant,,ENST00000378209,;AL691523.1,upstream_gene_variant,,ENST00000579705,;DFFB,splice_region_variant,,ENST00000461150,;DFFB,3_prime_UTR_variant,,ENST00000477548,;DFFB,3_prime_UTR_variant,,ENST00000491998,;DFFB,3_prime_UTR_variant,,ENST00000475969,;DFFB,3_prime_UTR_variant,,ENST00000468793,;DFFB,3_prime_UTR_variant,,ENST00000378206,;DFFB,3_prime_UTR_variant,,ENST00000339350,;	1403	37	32	SUCCESS
P4HTM	54681	.	GRCh37	3	49044348	49044348	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	32	0	ENST00000383729.4:c.*8G>A			ENST00000383729	NM_177939.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2781.2	.	MUTECT|MUSE|VARSCANS	.	GAAGAGTTAGC	NONE	.	.	.	.	.	ENSP00000341422	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000343546	Transcript	.	.	ENSG00000178467	28858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P4HTM_HUMAN	P4HTM	HGNC	.	.	UPI0000209C68	SNV	P4HTM,3_prime_UTR_variant,,ENST00000383729,;P4HTM,3_prime_UTR_variant,,ENST00000491739,;P4HTM,3_prime_UTR_variant,,ENST00000343546,;WDR6,upstream_gene_variant,,ENST00000491365,;WDR6,upstream_gene_variant,,ENST00000419837,;WDR6,upstream_gene_variant,,ENST00000395474,;WDR6,upstream_gene_variant,,ENST00000608424,;P4HTM,downstream_gene_variant,,ENST00000472796,;WDR6,upstream_gene_variant,,ENST00000448293,;WDR6,upstream_gene_variant,,ENST00000415265,;WDR6,upstream_gene_variant,,ENST00000429900,;WDR6,upstream_gene_variant,,ENST00000489427,;WDR6,upstream_gene_variant,,ENST00000438660,;P4HTM,downstream_gene_variant,,ENST00000444213,;P4HTM,downstream_gene_variant,,ENST00000486817,;P4HTM,downstream_gene_variant,,ENST00000468374,;WDR6,upstream_gene_variant,,ENST00000489684,;WDR6,upstream_gene_variant,,ENST00000461687,;WDR6,upstream_gene_variant,,ENST00000472878,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;WDR6,upstream_gene_variant,,ENST00000452875,;WDR6,upstream_gene_variant,,ENST00000471162,;WDR6,upstream_gene_variant,,ENST00000488572,;WDR6,upstream_gene_variant,,ENST00000462064,;WDR6,upstream_gene_variant,,ENST00000473238,;WDR6,upstream_gene_variant,,ENST00000420783,;P4HTM,downstream_gene_variant,,ENST00000485210,;	2068	32	32	SUCCESS
TUSC1	286319	.	GRCh37	9	25677591	25677591	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs777133986	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	10	0	ENST00000358022.3:c.*90C>G			ENST00000358022	NM_001004125.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34999.1	.	MUTECT|MUSE	.	GGAGCGGGCCA	NONE	.	.	.	.	.	ENSP00000350716	.	1/1	.	.	.	.	.	.	.	.	rs777133986	1/1	nonpreferredpair	ENST00000358022	Transcript	.	.	ENSG00000198680	31010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TUSC1_HUMAN	TUSC1	HGNC	.	.	UPI0000161A7E	SNV	TUSC1,3_prime_UTR_variant,,ENST00000358022,;	1266	10	11	SUCCESS
BHLHB9	80823	.	GRCh37	X	102006622	102006622	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	33	235	0	ENST00000361229.4:c.*1055C>A			ENST00000361229	NM_030639.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14502.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACATCTGGCT	NONE	.	.	.	.	.	ENSP00000361820	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000372735	Transcript	.	.	ENSG00000198908	29353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BHLH9_HUMAN	BHLHB9	HGNC	.	.	UPI00001C1D50	SNV	BHLHB9,3_prime_UTR_variant,,ENST00000448867,;BHLHB9,3_prime_UTR_variant,,ENST00000447531,;BHLHB9,3_prime_UTR_variant,,ENST00000372735,;BHLHB9,3_prime_UTR_variant,,ENST00000457056,;BHLHB9,3_prime_UTR_variant,,ENST00000361229,;BHLHB9,downstream_gene_variant,,ENST00000486988,;BHLHB9,downstream_gene_variant,,ENST00000483294,;	3284	235	216	SUCCESS
SPANXN1	494118	.	GRCh37	X	144337470	144337470	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	75	0	ENST00000370493.3:c.*136G>T			ENST00000370493	NM_001009614.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35421.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGACCTA	NONE	.	.	.	.	.	ENSP00000359524	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000370493	Transcript	.	.	ENSG00000203923	33174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPXN1_HUMAN	SPANXN1	HGNC	.	.	UPI0000458AF7	SNV	SPANXN1,3_prime_UTR_variant,,ENST00000370493,;	1114	75	75	SUCCESS
CTPS2	56474	.	GRCh37	X	16608872	16608872	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	47	0	ENST00000359276.4:c.*41+3A>G			ENST00000359276	NM_175859.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14175.1	.	MUSE|VARSCANS	.	CATCTTACCCT	NONE	.	.	.	.	.	ENSP00000401264	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000443824	Transcript	.	.	ENSG00000047230	2520	.	.	LOW	18/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PYRG2_HUMAN	CTPS2	HGNC	.	.	UPI0000073CBD	SNV	CTPS2,splice_region_variant,,ENST00000359276,;CTPS2,splice_region_variant,,ENST00000443824,;CTPS2,splice_region_variant,,ENST00000380241,;CTPS2,splice_region_variant,,ENST00000483053,;	.	47	51	SUCCESS
CACNA1F	778	.	GRCh37	X	49061566	49061566	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A4NR-01	TCGA-DD-A4NR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	16	0	ENST00000376265.2:c.*31C>G			ENST00000376265	NM_005183.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGGTTTAT	NONE	.	.	.	.	.	ENSP00000365441	.	48/48	.	.	.	.	.	.	.	.	.	48/48	nonpreferredpair	ENST00000376265	Transcript	.	.	ENSG00000102001	1393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAC1F_HUMAN	CACNA1F	HGNC	.	.	UPI0000072854	SNV	CACNA1F,3_prime_UTR_variant,,ENST00000376265,;CACNA1F,3_prime_UTR_variant,,ENST00000323022,;CACNA1F,3_prime_UTR_variant,,ENST00000376251,;SYP,upstream_gene_variant,,ENST00000479808,;SYP,upstream_gene_variant,,ENST00000263233,;CACNA1F,downstream_gene_variant,,ENST00000486943,;SYP,upstream_gene_variant,,ENST00000472598,;SYP,upstream_gene_variant,,ENST00000538567,;AF196779.1,upstream_gene_variant,,ENST00000583131,;SYP-AS1,downstream_gene_variant,,ENST00000433499,;SYP,upstream_gene_variant,,ENST00000466635,;SYP,upstream_gene_variant,,ENST00000469389,;SYP,upstream_gene_variant,,ENST00000494396,;CACNA1F,downstream_gene_variant,,ENST00000481035,;SYP,upstream_gene_variant,,ENST00000376303,;SYP,upstream_gene_variant,,ENST00000472737,;	6027	16	23	SUCCESS
PCDH20	64881	.	GRCh37	13	61985253	61985253	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	7	96	0	ENST00000409186.1:c.*123G>T			ENST00000409186				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9442.2	.	MUTECT|MUSE	.	ATTTACAATAT	NONE	.	.	.	.	.	ENSP00000386653	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,3_prime_UTR_variant,,ENST00000409204,;PCDH20,3_prime_UTR_variant,,ENST00000409186,;	5085	96	114	SUCCESS
COX6A2	1339	.	GRCh37	16	31439091	31439091	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	65	0	ENST00000287490.4:c.*4C>T			ENST00000287490	NM_005205.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10712.1	.	MUTECT|MUSE	.	TCCGGGGCCTC	NONE	.	.	.	.	.	ENSP00000287490	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000287490	Transcript	.	.	ENSG00000156885	2279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CX6A2_HUMAN	COX6A2	HGNC	.	.	UPI00000012DE	SNV	COX6A2,3_prime_UTR_variant,,ENST00000287490,;ITGAD,downstream_gene_variant,,ENST00000389202,;COX6A2,downstream_gene_variant,,ENST00000565462,;ITGAD,downstream_gene_variant,,ENST00000567308,;	401	65	46	SUCCESS
CCL11	6356	.	GRCh37	17	32614839	32614839	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs768719395	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	8	0	ENST00000305869.3:c.*130T>A			ENST00000305869	NM_002986.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11279.1	.	MUTECT|MUSE	.	TATTTTTTTTT	NONE	.	.	.	.	.	ENSP00000302234	.	3/3	.	.	.	.	.	.	.	.	rs768719395	3/3	PASS	ENST00000305869	Transcript	.	.	ENSG00000172156	10610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCL11_HUMAN	CCL11	HGNC	Q6I9T4_HUMAN	.	UPI0000050AFD	SNV	CCL11,3_prime_UTR_variant,,ENST00000305869,;	565	8	12	SUCCESS
PM20D1	148811	.	GRCh37	1	205797737	205797737	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	37	0	ENST00000367136.4:c.*11C>T			ENST00000367136	NM_152491.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1460.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGCCCCT	NONE	.	.	.	.	.	ENSP00000356104	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000367136	Transcript	.	.	ENSG00000162877	26518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P20D1_HUMAN	PM20D1	HGNC	.	.	UPI00003665FD	SNV	PM20D1,3_prime_UTR_variant,,ENST00000367136,;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,non_coding_transcript_exon_variant,,ENST00000469861,;PM20D1,non_coding_transcript_exon_variant,,ENST00000461807,;	1565	37	49	SUCCESS
C22orf29	0	.	GRCh37	22	19838629	19838629	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	29	0	ENST00000405640.1:c.*61G>T			ENST00000405640				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13769.1	.	MUTECT|MUSE	.	TGGGGCGCTCA	NONE	.	.	.	.	.	ENSP00000384924	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000405640	Transcript	.	.	ENSG00000215012	26112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BOP_HUMAN	C22orf29	HGNC	C9J0V4_HUMAN	.	UPI0000207B8F	SNV	C22orf29,3_prime_UTR_variant,,ENST00000407472,;C22orf29,3_prime_UTR_variant,,ENST00000328554,;C22orf29,3_prime_UTR_variant,,ENST00000405640,;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000329517,;C22orf29,downstream_gene_variant,,ENST00000416337,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;C22orf29,intron_variant,,ENST00000484072,;	1825	29	26	SUCCESS
AGGF1	55109	.	GRCh37	5	76359344	76359344	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs10942807	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	7	1	ENST00000312916.7:c.*267C>T			ENST00000312916	NM_018046.4			0	.	T:0.0318	.	T:0.1873	.	T	.	protein_coding	YES	CCDS4035.1	.	MUSE|VARSCANS	.	ATTTACAACAT	NONE	byFrequency|byCluster|by2Hit2Allele|byHapMap|by1000G	.	.	T:0.0288	.	ENSP00000316109	T:0.2157	14/14	.	.	.	.	.	.	.	.	rs10942807	14/14	PASS	ENST00000312916	Transcript	1	T:0.1116	ENSG00000164252	24684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0.1442	.	.	AGGF1_HUMAN	AGGF1	HGNC	A8K029_HUMAN	.	UPI0000231C8D	SNV	AGGF1,3_prime_UTR_variant,,ENST00000312916,;	2794	8	18	SUCCESS
PTP4A3	11156	.	GRCh37	8	142444018	142444018	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs374736331	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	23	0				ENST00000329397				0	T:0.0003	.	.	.	.	T	.	protein_coding	YES	CCDS6383.1	.	RADIA|MUSE	.	GGACACGGGAG	NONE	byFrequency|byCluster	2624	.	.	T:0.0001	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	rs374736331	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000430863,;	.	23	33	SUCCESS
FAM133A	286499	.	GRCh37	X	92965898	92965898	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	10	293	0	ENST00000322139.4:c.*733C>A			ENST00000322139	NM_001171111.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14466.1	.	MUTECT|MUSE	.	TATTACAATAT	NONE	.	.	.	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,3_prime_UTR_variant,,ENST00000355813,;FAM133A,3_prime_UTR_variant,,ENST00000538690,;FAM133A,3_prime_UTR_variant,,ENST00000332647,;FAM133A,3_prime_UTR_variant,,ENST00000322139,;	2041	293	283	SUCCESS
PCDH20	64881	.	GRCh37	13	61985253	61985253	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	7	82	0	ENST00000409186.1:c.*123G>T			ENST00000409186				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9442.2	.	MUTECT|MUSE	.	ATTTACAATAT	NONE	.	.	.	.	.	ENSP00000386653	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,3_prime_UTR_variant,,ENST00000409204,;PCDH20,3_prime_UTR_variant,,ENST00000409186,;	5085	82	114	SUCCESS
COX6A2	1339	.	GRCh37	16	31439091	31439091	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	36	0	ENST00000287490.4:c.*4C>T			ENST00000287490	NM_005205.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10712.1	.	MUTECT|MUSE	.	TCCGGGGCCTC	NONE	.	.	.	.	.	ENSP00000287490	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000287490	Transcript	.	.	ENSG00000156885	2279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CX6A2_HUMAN	COX6A2	HGNC	.	.	UPI00000012DE	SNV	COX6A2,3_prime_UTR_variant,,ENST00000287490,;ITGAD,downstream_gene_variant,,ENST00000389202,;COX6A2,downstream_gene_variant,,ENST00000565462,;ITGAD,downstream_gene_variant,,ENST00000567308,;	401	36	46	SUCCESS
PM20D1	148811	.	GRCh37	1	205797737	205797737	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	8	38	0	ENST00000367136.4:c.*11C>T			ENST00000367136	NM_152491.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1460.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGCCCCT	NONE	.	.	.	.	.	ENSP00000356104	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000367136	Transcript	.	.	ENSG00000162877	26518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P20D1_HUMAN	PM20D1	HGNC	.	.	UPI00003665FD	SNV	PM20D1,3_prime_UTR_variant,,ENST00000367136,;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,non_coding_transcript_exon_variant,,ENST00000469861,;PM20D1,non_coding_transcript_exon_variant,,ENST00000461807,;	1565	38	49	SUCCESS
C22orf29	0	.	GRCh37	22	19838629	19838629	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	19	0	ENST00000405640.1:c.*61G>T			ENST00000405640				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13769.1	.	MUTECT|MUSE	.	TGGGGCGCTCA	NONE	.	.	.	.	.	ENSP00000384924	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000405640	Transcript	.	.	ENSG00000215012	26112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BOP_HUMAN	C22orf29	HGNC	C9J0V4_HUMAN	.	UPI0000207B8F	SNV	C22orf29,3_prime_UTR_variant,,ENST00000407472,;C22orf29,3_prime_UTR_variant,,ENST00000328554,;C22orf29,3_prime_UTR_variant,,ENST00000405640,;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000453108,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000329517,;C22orf29,downstream_gene_variant,,ENST00000416337,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;C22orf29,intron_variant,,ENST00000484072,;	1825	19	26	SUCCESS
PTP4A3	11156	.	GRCh37	8	142444018	142444018	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs374736331	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	32	0				ENST00000329397				0	T:0.0003	.	.	.	.	T	.	protein_coding	YES	CCDS6383.1	.	RADIA|MUSE	.	GGACACGGGAG	NONE	byFrequency|byCluster	2624	.	.	T:0.0001	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	rs374736331	.	nonpreferredpair	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000430863,;	.	32	33	SUCCESS
FAM133A	286499	.	GRCh37	X	92965898	92965898	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A4NS-01	TCGA-DD-A4NS-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	272	10	212	1	ENST00000322139.4:c.*733C>A			ENST00000322139	NM_001171111.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14466.1	.	MUTECT|MUSE	.	TATTACAATAT	NONE	.	.	.	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,3_prime_UTR_variant,,ENST00000355813,;FAM133A,3_prime_UTR_variant,,ENST00000538690,;FAM133A,3_prime_UTR_variant,,ENST00000332647,;FAM133A,3_prime_UTR_variant,,ENST00000322139,;	2041	213	283	SUCCESS
KCNC1	3746	.	GRCh37	11	17801139	17801139	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs960179328	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	86	0				ENST00000379472	NM_004976.4	547		0	.	.	.	.	.	T	F	protein_coding	YES	CCDS44547.1	1641	MUTECT|MUSE	.	TGCTTCCTCTT	NONE	.	.	.	.	.	ENSP00000265969	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000265969	Transcript	.	.	ENSG00000129159	6233	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KCNC1	HGNC	K4DI87_HUMAN	.	UPI0000E2291F	SNV	KCNC1,synonymous_variant,p.%3D,ENST00000265969,;KCNC1,downstream_gene_variant,,ENST00000379472,;KCNC1,non_coding_transcript_exon_variant,,ENST00000525802,;KCNC1,non_coding_transcript_exon_variant,,ENST00000526029,;	2832	86	76	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19282708	19282708	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	82	0				ENST00000299275	NM_019012.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCGGCG	NONE	.	.	.	.	.	ENSP00000404296	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,5_prime_UTR_variant,,ENST00000317589,;PLEKHA5,5_prime_UTR_variant,,ENST00000429027,;PLEKHA5,5_prime_UTR_variant,,ENST00000540972,;PLEKHA5,5_prime_UTR_variant,,ENST00000355397,;PLEKHA5,5_prime_UTR_variant,,ENST00000309364,;PLEKHA5,5_prime_UTR_variant,,ENST00000359180,;PLEKHA5,upstream_gene_variant,,ENST00000538714,;PLEKHA5,upstream_gene_variant,,ENST00000539256,;PLEKHA5,upstream_gene_variant,,ENST00000299275,;PLEKHA5,upstream_gene_variant,,ENST00000535357,;PLEKHA5,upstream_gene_variant,,ENST00000538034,;	7	82	70	SUCCESS
TUBA1B	10376	.	GRCh37	12	49521596	49521596	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	43	0	ENST00000336023.5:c.*145C>T			ENST00000336023	NM_006082.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31792.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATATGATGGA	NONE	.	.	.	.	.	ENSP00000336799	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336023	Transcript	.	.	ENSG00000123416	18809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBA1B_HUMAN	TUBA1B	HGNC	F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN,C9JDS9_HUMAN	.	UPI00000015EA	SNV	TUBA1B,3_prime_UTR_variant,,ENST00000336023,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;TUBA1B,downstream_gene_variant,,ENST00000547476,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000548149,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000552893,;RP11-386G11.10,upstream_gene_variant,,ENST00000547712,;RP11-386G11.10,upstream_gene_variant,,ENST00000551496,;RP11-386G11.10,upstream_gene_variant,,ENST00000547387,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000547765,;TUBA1B,downstream_gene_variant,,ENST00000551324,;	1596	43	26	SUCCESS
NUPL1	0	.	GRCh37	13	25914356	25914356	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	49	0	ENST00000381736.3:c.*84G>A			ENST00000381736	NM_014089.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9314.1	.	MUTECT|MUSE	.	AAATTGCATCC	NONE	.	.	.	.	.	ENSP00000371155	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000381736	Transcript	.	.	ENSG00000139496	20261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUPL1_HUMAN	NUPL1	HGNC	.	.	UPI000006D9D4	SNV	NUPL1,3_prime_UTR_variant,,ENST00000381736,;NUPL1,3_prime_UTR_variant,,ENST00000381718,;NUPL1,downstream_gene_variant,,ENST00000463407,;NUPL1,downstream_gene_variant,,ENST00000381747,;NUPL1,downstream_gene_variant,,ENST00000394327,;NUPL1,intron_variant,,ENST00000477876,;NUPL1,downstream_gene_variant,,ENST00000466694,;	2134	49	31	SUCCESS
HYPK	25764	.	GRCh37	15	44094165	44094165	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	12	0	ENST00000406925.1:c.*161A>G			ENST00000406925				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10104.1	.	MUTECT|MUSE	.	CCATTAAAATC	NONE	.	.	.	.	.	ENSP00000384474	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000406925	Transcript	.	.	ENSG00000242028	18418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYPK_HUMAN	HYPK	HGNC	.	.	UPI000000D937	SNV	HYPK,3_prime_UTR_variant,,ENST00000406925,;HYPK,3_prime_UTR_variant,,ENST00000458412,;HYPK,3_prime_UTR_variant,,ENST00000442995,;SERF2,3_prime_UTR_variant,,ENST00000600633,;SERF2,downstream_gene_variant,,ENST00000430901,;SERF2,downstream_gene_variant,,ENST00000594896,;SERINC4,upstream_gene_variant,,ENST00000249714,;SERINC4,upstream_gene_variant,,ENST00000299969,;SERINC4,upstream_gene_variant,,ENST00000319327,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000409291,;MFAP1,downstream_gene_variant,,ENST00000267812,;HYPK,downstream_gene_variant,,ENST00000497142,;HYPK,downstream_gene_variant,,ENST00000498605,;SERF2,3_prime_UTR_variant,,ENST00000448830,;MFAP1,downstream_gene_variant,,ENST00000484386,;SERINC4,upstream_gene_variant,,ENST00000412697,;SERF2,downstream_gene_variant,,ENST00000409617,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000457418,;SERINC4,upstream_gene_variant,,ENST00000476490,;SERINC4,upstream_gene_variant,,ENST00000448553,;	4662	12	13	SUCCESS
SPPL2A	84888	.	GRCh37	15	50999894	50999894	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1294689286	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	43	0	ENST00000261854.5:c.*103A>G			ENST00000261854	NM_032802.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10138.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCATATCAT	NONE	.	.	.	.	.	ENSP00000261854	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000261854	Transcript	.	.	ENSG00000138600	30227	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPP2A_HUMAN	SPPL2A	HGNC	H0YNA7_HUMAN	.	UPI0000013591	SNV	SPPL2A,3_prime_UTR_variant,,ENST00000558934,;SPPL2A,3_prime_UTR_variant,,ENST00000261854,;	1941	43	47	SUCCESS
COPS3	8533	.	GRCh37	17	17150199	17150199	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	21	0	ENST00000268717.5:c.*213T>A			ENST00000268717	NM_003653.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11183.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAAATCC	NONE	.	.	.	.	.	ENSP00000268717	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000268717	Transcript	.	.	ENSG00000141030	2239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN3_HUMAN	COPS3	HGNC	J3QKR0_HUMAN	.	UPI0000073FD1	SNV	COPS3,3_prime_UTR_variant,,ENST00000579716,;COPS3,3_prime_UTR_variant,,ENST00000439936,;COPS3,3_prime_UTR_variant,,ENST00000268717,;COPS3,3_prime_UTR_variant,,ENST00000539941,;AC055811.1,downstream_gene_variant,,ENST00000577389,;COPS3,3_prime_UTR_variant,,ENST00000578317,;COPS3,non_coding_transcript_exon_variant,,ENST00000486032,;COPS3,downstream_gene_variant,,ENST00000463097,;AC055811.5,downstream_gene_variant,,ENST00000423783,;	1592	21	17	SUCCESS
RHOT1	55288	.	GRCh37	17	30469471	30469476	+	5_prime_UTR_variant	5'UTR	DEL	CCGCCG	CCGCCG	-	rs560388277	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	CCGCCG	CCGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	15	0				ENST00000333942	NM_018307.3	88		0	.	.	.	.	.	-	RR/-	protein_coding	YES	.	262-267	INDELOCATOR|VARSCANI	.	TCGTCCCCGCCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398832	Transcript	.	.	ENSG00000214708	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC090616.2	Clone_based_vega_gene	A8MZ04_HUMAN	.	UPI0000E59F09	deletion	AC090616.2,inframe_deletion,p.Arg88_Arg89del,ENST00000398832,;RHOT1,5_prime_UTR_variant,,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000354266,;RHOT1,upstream_gene_variant,,ENST00000583994,;RHOT1,upstream_gene_variant,,ENST00000581094,;RHOT1,upstream_gene_variant,,ENST00000394692,;RHOT1,upstream_gene_variant,,ENST00000358365,;RHOT1,upstream_gene_variant,,ENST00000545287,;RHOT1,upstream_gene_variant,,ENST00000580976,;RHOT1,upstream_gene_variant,,ENST00000581031,;RHOT1,upstream_gene_variant,,ENST00000578205,;	368-373	15	40	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60243849	60243849	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	139	0	ENST00000269499.5:c.*37T>A			ENST00000269499	NM_017742.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45880.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTGGGGA	NONE	.	.	.	.	.	ENSP00000269499	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,3_prime_UTR_variant,,ENST00000586834,;ZCCHC2,3_prime_UTR_variant,,ENST00000269499,;ZCCHC2,downstream_gene_variant,,ENST00000587612,;ZCCHC2,3_prime_UTR_variant,,ENST00000585873,;ZCCHC2,3_prime_UTR_variant,,ENST00000591145,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;	3992	139	103	SUCCESS
DHDH	27294	.	GRCh37	19	49448217	49448217	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	86	0	ENST00000221403.2:c.*27T>C			ENST00000221403	NM_014475.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12741.1	.	MUTECT|MUSE	.	ACATCTTACAT	NONE	.	.	.	.	.	ENSP00000221403	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000221403	Transcript	.	.	ENSG00000104808	17887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHDH_HUMAN	DHDH	HGNC	.	.	UPI000006DD01	SNV	DHDH,3_prime_UTR_variant,,ENST00000221403,;DHDH,3_prime_UTR_variant,,ENST00000522614,;DHDH,downstream_gene_variant,,ENST00000523250,;DHDH,3_prime_UTR_variant,,ENST00000520557,;	1072	86	85	SUCCESS
SERTAD4	56256	.	GRCh37	1	210415764	210415764	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	47	0	ENST00000367012.3:c.*82T>C			ENST00000367012	NM_019605.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1494.1	.	MUTECT|MUSE	.	TGTAGTTTTGT	NONE	.	.	.	.	.	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,3_prime_UTR_variant,,ENST00000367012,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;SERTAD4,downstream_gene_variant,,ENST00000490620,;	1383	47	56	SUCCESS
SEMG1	6406	.	GRCh37	20	43837360	43837360	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	17	264	0	ENST00000372781.3:c.*33A>G			ENST00000372781	NM_003007.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13345.1	.	MUTECT|MUSE	.	GATGGACCAAT	NONE	.	.	.	.	.	ENSP00000361867	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000372781	Transcript	.	.	ENSG00000124233	10742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEMG1_HUMAN	SEMG1	HGNC	Q6Y808_HUMAN	.	UPI0000135844	SNV	SEMG1,3_prime_UTR_variant,,ENST00000372781,;SEMG1,downstream_gene_variant,,ENST00000244069,;	1479	264	243	SUCCESS
FAM217B	63939	.	GRCh37	20	58520369	58520369	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	18	137	0	ENST00000358293.3:c.*219T>A			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13484.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAATGAGAG	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,downstream_gene_variant,,ENST00000469084,;	1786	137	108	SUCCESS
ACAD11	84129	.	GRCh37	3	132277774	132277774	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	56	0	ENST00000264990.6:c.*41T>G			ENST00000264990	NM_032169.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3074.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAAAGGAGA	NONE	.	.	.	.	.	ENSP00000264990	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,3_prime_UTR_variant,,ENST00000264990,;ACAD11,3_prime_UTR_variant,,ENST00000545291,;ACAD11,3_prime_UTR_variant,,ENST00000355458,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,3_prime_UTR_variant,,ENST00000485198,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;	3356	56	61	SUCCESS
SESN1	27244	.	GRCh37	6	109308697	109308697	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	37	0	ENST00000436639.2:c.*50T>G			ENST00000436639	NM_014454.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5070.1	.	MUTECT|MUSE	.	CTTGTAGACTA	NONE	.	.	.	.	.	ENSP00000393762	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000436639	Transcript	.	.	ENSG00000080546	21595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SESN1_HUMAN	SESN1	HGNC	.	.	UPI000002B36B	SNV	SESN1,3_prime_UTR_variant,,ENST00000302071,;SESN1,3_prime_UTR_variant,,ENST00000436639,;SESN1,3_prime_UTR_variant,,ENST00000356644,;SESN1,downstream_gene_variant,,ENST00000520364,;	2452	37	26	SUCCESS
FKBP6	8468	.	GRCh37	7	72742269	72742269	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	12	186	0				ENST00000252037	NM_003602.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43595.1	.	MUTECT|MUSE	.	TGGAACGAAAC	NONE	.	94	.	.	.	ENSP00000252037	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000252037	Transcript	.	.	ENSG00000077800	3722	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FKBP6_HUMAN	FKBP6	HGNC	.	.	UPI000000165F	SNV	FKBP6,5_prime_UTR_variant,,ENST00000431982,;FKBP6,5_prime_UTR_variant,,ENST00000442793,;TRIM50,upstream_gene_variant,,ENST00000333149,;FKBP6,upstream_gene_variant,,ENST00000252037,;FKBP6,upstream_gene_variant,,ENST00000413573,;TRIM50,upstream_gene_variant,,ENST00000453152,;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,upstream_gene_variant,,ENST00000445032,;FKBP6,upstream_gene_variant,,ENST00000437013,;FKBP6,upstream_gene_variant,,ENST00000429879,;	.	186	192	SUCCESS
GDA	9615	.	GRCh37	9	74863351	74863351	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	78	0	ENST00000358399.3:c.*93C>T			ENST00000358399	NM_001242506.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56576.1	.	MUTECT|MUSE	.	AGTACCTTGTT	NONE	.	.	.	.	.	ENSP00000238018	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000238018	Transcript	.	.	ENSG00000119125	4212	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GUAD_HUMAN	GDA	HGNC	Q5SZC3_HUMAN,B4DIP8_HUMAN,B3KUM3_HUMAN	.	UPI000015828B	SNV	GDA,3_prime_UTR_variant,,ENST00000358399,;GDA,intron_variant,,ENST00000238018,;GDA,intron_variant,,ENST00000376986,;GDA,intron_variant,,ENST00000436438,;GDA,intron_variant,,ENST00000376989,;GDA,downstream_gene_variant,,ENST00000545168,;GDA,intron_variant,,ENST00000475764,;GDA,intron_variant,,ENST00000489618,;	.	78	71	SUCCESS
RAB9B	51209	.	GRCh37	X	103080021	103080022	+	3_prime_UTR_variant	3'UTR	DEL	GC	GC	-	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	25	0	ENST00000243298.2:c.*87_*88del			ENST00000243298	NM_016370.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14515.1	.	VARSCANI*|PINDEL	.	TTGTGTGCGTGTG	NONE	.	.	.	.	.	ENSP00000243298	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000243298	Transcript	.	.	ENSG00000123570	14090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB9B_HUMAN	RAB9B	HGNC	.	.	UPI0000133185	deletion	RAB9B,3_prime_UTR_variant,,ENST00000243298,;	978-979	25	35	SUCCESS
KCNC1	3746	.	GRCh37	11	17801139	17801139	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs960179328	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	76	0				ENST00000379472	NM_004976.4	547		0	.	.	.	.	.	T	F	protein_coding	YES	CCDS44547.1	1641	MUTECT|MUSE	.	TGCTTCCTCTT	NONE	.	.	.	.	.	ENSP00000265969	.	3/4	.	.	.	.	.	.	.	.	.	3/4	nonpreferredpair	ENST00000265969	Transcript	.	.	ENSG00000129159	6233	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KCNC1	HGNC	K4DI87_HUMAN	.	UPI0000E2291F	SNV	KCNC1,synonymous_variant,p.%3D,ENST00000265969,;KCNC1,downstream_gene_variant,,ENST00000379472,;KCNC1,non_coding_transcript_exon_variant,,ENST00000525802,;KCNC1,non_coding_transcript_exon_variant,,ENST00000526029,;	2832	76	76	SUCCESS
PLEKHA5	54477	.	GRCh37	12	19282708	19282708	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	25	69	0				ENST00000299275	NM_019012.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGGCGGCG	NONE	.	.	.	.	.	ENSP00000404296	.	1/32	.	.	.	.	.	.	.	.	.	1/32	nonpreferredpair	ENST00000429027	Transcript	.	.	ENSG00000052126	30036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHA5_HUMAN	PLEKHA5	HGNC	F5H1X3_HUMAN,B4DHK5_HUMAN	.	UPI000204ABA8	SNV	PLEKHA5,5_prime_UTR_variant,,ENST00000317589,;PLEKHA5,5_prime_UTR_variant,,ENST00000429027,;PLEKHA5,5_prime_UTR_variant,,ENST00000540972,;PLEKHA5,5_prime_UTR_variant,,ENST00000355397,;PLEKHA5,5_prime_UTR_variant,,ENST00000309364,;PLEKHA5,5_prime_UTR_variant,,ENST00000359180,;PLEKHA5,upstream_gene_variant,,ENST00000538714,;PLEKHA5,upstream_gene_variant,,ENST00000539256,;PLEKHA5,upstream_gene_variant,,ENST00000299275,;PLEKHA5,upstream_gene_variant,,ENST00000535357,;PLEKHA5,upstream_gene_variant,,ENST00000538034,;	7	69	70	SUCCESS
TUBA1B	10376	.	GRCh37	12	49521596	49521596	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	33	0	ENST00000336023.5:c.*145C>T			ENST00000336023	NM_006082.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31792.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATATGATGGA	NONE	.	.	.	.	.	ENSP00000336799	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000336023	Transcript	.	.	ENSG00000123416	18809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBA1B_HUMAN	TUBA1B	HGNC	F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN,C9JDS9_HUMAN	.	UPI00000015EA	SNV	TUBA1B,3_prime_UTR_variant,,ENST00000336023,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;TUBA1B,downstream_gene_variant,,ENST00000547476,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000548149,;RP11-386G11.10,non_coding_transcript_exon_variant,,ENST00000552893,;RP11-386G11.10,upstream_gene_variant,,ENST00000547712,;RP11-386G11.10,upstream_gene_variant,,ENST00000551496,;RP11-386G11.10,upstream_gene_variant,,ENST00000547387,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000547765,;TUBA1B,downstream_gene_variant,,ENST00000551324,;	1596	33	26	SUCCESS
NUPL1	0	.	GRCh37	13	25914356	25914356	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	49	0	ENST00000381736.3:c.*84G>A			ENST00000381736	NM_014089.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9314.1	.	MUTECT|MUSE	.	AAATTGCATCC	NONE	.	.	.	.	.	ENSP00000371155	.	16/16	.	.	.	.	.	.	.	.	.	16/16	nonpreferredpair	ENST00000381736	Transcript	.	.	ENSG00000139496	20261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUPL1_HUMAN	NUPL1	HGNC	.	.	UPI000006D9D4	SNV	NUPL1,3_prime_UTR_variant,,ENST00000381736,;NUPL1,3_prime_UTR_variant,,ENST00000381718,;NUPL1,downstream_gene_variant,,ENST00000463407,;NUPL1,downstream_gene_variant,,ENST00000381747,;NUPL1,downstream_gene_variant,,ENST00000394327,;NUPL1,intron_variant,,ENST00000477876,;NUPL1,downstream_gene_variant,,ENST00000466694,;	2134	49	31	SUCCESS
HYPK	25764	.	GRCh37	15	44094165	44094165	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	11	0	ENST00000406925.1:c.*161A>G			ENST00000406925				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10104.1	.	MUTECT|MUSE	.	CCATTAAAATC	NONE	.	.	.	.	.	ENSP00000384474	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000406925	Transcript	.	.	ENSG00000242028	18418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYPK_HUMAN	HYPK	HGNC	.	.	UPI000000D937	SNV	HYPK,3_prime_UTR_variant,,ENST00000406925,;HYPK,3_prime_UTR_variant,,ENST00000458412,;HYPK,3_prime_UTR_variant,,ENST00000442995,;SERF2,3_prime_UTR_variant,,ENST00000600633,;SERF2,downstream_gene_variant,,ENST00000430901,;SERF2,downstream_gene_variant,,ENST00000594896,;SERINC4,upstream_gene_variant,,ENST00000249714,;SERINC4,upstream_gene_variant,,ENST00000299969,;SERINC4,upstream_gene_variant,,ENST00000319327,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000409291,;MFAP1,downstream_gene_variant,,ENST00000267812,;HYPK,downstream_gene_variant,,ENST00000497142,;HYPK,downstream_gene_variant,,ENST00000498605,;SERF2,3_prime_UTR_variant,,ENST00000448830,;MFAP1,downstream_gene_variant,,ENST00000484386,;SERINC4,upstream_gene_variant,,ENST00000412697,;SERF2,downstream_gene_variant,,ENST00000409617,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000457418,;SERINC4,upstream_gene_variant,,ENST00000476490,;SERINC4,upstream_gene_variant,,ENST00000448553,;	4662	11	13	SUCCESS
SPPL2A	84888	.	GRCh37	15	50999894	50999894	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1294689286	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	6	38	0	ENST00000261854.5:c.*103A>G			ENST00000261854	NM_032802.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10138.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGCATATCAT	NONE	.	.	.	.	.	ENSP00000261854	.	15/15	.	.	.	.	.	.	.	.	.	15/15	nonpreferredpair	ENST00000261854	Transcript	.	.	ENSG00000138600	30227	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPP2A_HUMAN	SPPL2A	HGNC	H0YNA7_HUMAN	.	UPI0000013591	SNV	SPPL2A,3_prime_UTR_variant,,ENST00000558934,;SPPL2A,3_prime_UTR_variant,,ENST00000261854,;	1941	38	47	SUCCESS
COPS3	8533	.	GRCh37	17	17150199	17150199	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	22	0	ENST00000268717.5:c.*213T>A			ENST00000268717	NM_003653.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11183.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAAATCC	NONE	.	.	.	.	.	ENSP00000268717	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000268717	Transcript	.	.	ENSG00000141030	2239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSN3_HUMAN	COPS3	HGNC	J3QKR0_HUMAN	.	UPI0000073FD1	SNV	COPS3,3_prime_UTR_variant,,ENST00000579716,;COPS3,3_prime_UTR_variant,,ENST00000439936,;COPS3,3_prime_UTR_variant,,ENST00000268717,;COPS3,3_prime_UTR_variant,,ENST00000539941,;AC055811.1,downstream_gene_variant,,ENST00000577389,;COPS3,3_prime_UTR_variant,,ENST00000578317,;COPS3,non_coding_transcript_exon_variant,,ENST00000486032,;COPS3,downstream_gene_variant,,ENST00000463097,;AC055811.5,downstream_gene_variant,,ENST00000423783,;	1592	22	17	SUCCESS
RHOT1	55288	.	GRCh37	17	30469471	30469476	+	5_prime_UTR_variant	5'UTR	DEL	CCGCCG	CCGCCG	-	rs560388277	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	CCGCCG	CCGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	24	0				ENST00000333942	NM_018307.3	88		0	.	.	.	.	.	-	RR/-	protein_coding	YES	.	262-267	INDELOCATOR|VARSCANI	.	TCGTCCCCGCCGCCGCC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000381813	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000398832	Transcript	.	.	ENSG00000214708	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC090616.2	Clone_based_vega_gene	A8MZ04_HUMAN	.	UPI0000E59F09	deletion	AC090616.2,inframe_deletion,p.Arg88_Arg89del,ENST00000398832,;RHOT1,5_prime_UTR_variant,,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000354266,;RHOT1,upstream_gene_variant,,ENST00000583994,;RHOT1,upstream_gene_variant,,ENST00000581094,;RHOT1,upstream_gene_variant,,ENST00000394692,;RHOT1,upstream_gene_variant,,ENST00000358365,;RHOT1,upstream_gene_variant,,ENST00000545287,;RHOT1,upstream_gene_variant,,ENST00000580976,;RHOT1,upstream_gene_variant,,ENST00000581031,;RHOT1,upstream_gene_variant,,ENST00000578205,;	368-373	24	40	SUCCESS
ZCCHC2	54877	.	GRCh37	18	60243849	60243849	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	36	115	0	ENST00000269499.5:c.*37T>A			ENST00000269499	NM_017742.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45880.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTGGGGA	NONE	.	.	.	.	.	ENSP00000269499	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000269499	Transcript	.	.	ENSG00000141664	22916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZCHC2_HUMAN	ZCCHC2	HGNC	K7ERQ9_HUMAN,B2RPG6_HUMAN	.	UPI00016D385A	SNV	ZCCHC2,3_prime_UTR_variant,,ENST00000586834,;ZCCHC2,3_prime_UTR_variant,,ENST00000269499,;ZCCHC2,downstream_gene_variant,,ENST00000587612,;ZCCHC2,3_prime_UTR_variant,,ENST00000585873,;ZCCHC2,3_prime_UTR_variant,,ENST00000591145,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;	3992	115	103	SUCCESS
DHDH	27294	.	GRCh37	19	49448217	49448217	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	5	83	0	ENST00000221403.2:c.*27T>C			ENST00000221403	NM_014475.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12741.1	.	MUTECT|MUSE	.	ACATCTTACAT	NONE	.	.	.	.	.	ENSP00000221403	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000221403	Transcript	.	.	ENSG00000104808	17887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHDH_HUMAN	DHDH	HGNC	.	.	UPI000006DD01	SNV	DHDH,3_prime_UTR_variant,,ENST00000221403,;DHDH,3_prime_UTR_variant,,ENST00000522614,;DHDH,downstream_gene_variant,,ENST00000523250,;DHDH,3_prime_UTR_variant,,ENST00000520557,;	1072	83	85	SUCCESS
SERTAD4	56256	.	GRCh37	1	210415764	210415764	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	39	0	ENST00000367012.3:c.*82T>C			ENST00000367012	NM_019605.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1494.1	.	MUTECT|MUSE	.	TGTAGTTTTGT	NONE	.	.	.	.	.	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,3_prime_UTR_variant,,ENST00000367012,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;SERTAD4,downstream_gene_variant,,ENST00000490620,;	1383	39	56	SUCCESS
SEMG1	6406	.	GRCh37	20	43837360	43837360	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	226	17	260	0	ENST00000372781.3:c.*33A>G			ENST00000372781	NM_003007.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13345.1	.	MUTECT|MUSE	.	GATGGACCAAT	NONE	.	.	.	.	.	ENSP00000361867	.	2/3	.	.	.	.	.	.	.	.	.	2/3	nonpreferredpair	ENST00000372781	Transcript	.	.	ENSG00000124233	10742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SEMG1_HUMAN	SEMG1	HGNC	Q6Y808_HUMAN	.	UPI0000135844	SNV	SEMG1,3_prime_UTR_variant,,ENST00000372781,;SEMG1,downstream_gene_variant,,ENST00000244069,;	1479	260	243	SUCCESS
FAM217B	63939	.	GRCh37	20	58520369	58520369	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	18	102	0	ENST00000358293.3:c.*219T>A			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13484.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAATGAGAG	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,downstream_gene_variant,,ENST00000469084,;	1786	102	108	SUCCESS
ACAD11	84129	.	GRCh37	3	132277774	132277774	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	11	43	0	ENST00000264990.6:c.*41T>G			ENST00000264990	NM_032169.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3074.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAAAGGAGA	NONE	.	.	.	.	.	ENSP00000264990	.	20/20	.	.	.	.	.	.	.	.	.	20/20	nonpreferredpair	ENST00000264990	Transcript	.	.	ENSG00000240303	30211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACD11_HUMAN	ACAD11	HGNC	Q08AE9_HUMAN,B4DQ41_HUMAN	.	UPI00003671B7	SNV	ACAD11,3_prime_UTR_variant,,ENST00000264990,;ACAD11,3_prime_UTR_variant,,ENST00000545291,;ACAD11,3_prime_UTR_variant,,ENST00000355458,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,3_prime_UTR_variant,,ENST00000485198,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;	3356	43	61	SUCCESS
SESN1	27244	.	GRCh37	6	109308697	109308697	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	32	0	ENST00000436639.2:c.*50T>G			ENST00000436639	NM_014454.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5070.1	.	MUTECT|MUSE	.	CTTGTAGACTA	NONE	.	.	.	.	.	ENSP00000393762	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000436639	Transcript	.	.	ENSG00000080546	21595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SESN1_HUMAN	SESN1	HGNC	.	.	UPI000002B36B	SNV	SESN1,3_prime_UTR_variant,,ENST00000302071,;SESN1,3_prime_UTR_variant,,ENST00000436639,;SESN1,3_prime_UTR_variant,,ENST00000356644,;SESN1,downstream_gene_variant,,ENST00000520364,;	2452	32	26	SUCCESS
FKBP6	8468	.	GRCh37	7	72742269	72742269	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	12	135	0				ENST00000252037	NM_003602.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43595.1	.	MUTECT|MUSE	.	TGGAACGAAAC	NONE	.	94	.	.	.	ENSP00000252037	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000252037	Transcript	.	.	ENSG00000077800	3722	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FKBP6_HUMAN	FKBP6	HGNC	.	.	UPI000000165F	SNV	FKBP6,5_prime_UTR_variant,,ENST00000431982,;FKBP6,5_prime_UTR_variant,,ENST00000442793,;TRIM50,upstream_gene_variant,,ENST00000333149,;FKBP6,upstream_gene_variant,,ENST00000252037,;FKBP6,upstream_gene_variant,,ENST00000413573,;TRIM50,upstream_gene_variant,,ENST00000453152,;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,upstream_gene_variant,,ENST00000445032,;FKBP6,upstream_gene_variant,,ENST00000437013,;FKBP6,upstream_gene_variant,,ENST00000429879,;	.	135	192	SUCCESS
GDA	9615	.	GRCh37	9	74863351	74863351	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A4NV-01	TCGA-DD-A4NV-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	78	0	ENST00000358399.3:c.*93C>T			ENST00000358399	NM_001242506.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56576.1	.	MUTECT|MUSE	.	AGTACCTTGTT	NONE	.	.	.	.	.	ENSP00000238018	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000238018	Transcript	.	.	ENSG00000119125	4212	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GUAD_HUMAN	GDA	HGNC	Q5SZC3_HUMAN,B4DIP8_HUMAN,B3KUM3_HUMAN	.	UPI000015828B	SNV	GDA,3_prime_UTR_variant,,ENST00000358399,;GDA,intron_variant,,ENST00000238018,;GDA,intron_variant,,ENST00000376986,;GDA,intron_variant,,ENST00000436438,;GDA,intron_variant,,ENST00000376989,;GDA,downstream_gene_variant,,ENST00000545168,;GDA,intron_variant,,ENST00000475764,;GDA,intron_variant,,ENST00000489618,;	.	78	71	SUCCESS
SMUG1	23583	.	GRCh37	12	54575679	54575679	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	12	0	ENST00000337581.3:c.*201C>T			ENST00000337581				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8874.1	.	MUTECT|MUSE	.	AGCAGGAATCA	NONE	.	.	.	.	.	ENSP00000424191	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000508394	Transcript	.	.	ENSG00000123415	17148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMUG1_HUMAN	SMUG1	HGNC	D6RIA4_HUMAN,D6RD88_HUMAN,D6RAS0_HUMAN,D6RA78_HUMAN,D6RA25_HUMAN	.	UPI0000073EC2	SNV	SMUG1,3_prime_UTR_variant,,ENST00000505128,;SMUG1,3_prime_UTR_variant,,ENST00000508394,;SMUG1,3_prime_UTR_variant,,ENST00000337581,;SMUG1,intron_variant,,ENST00000506595,;SMUG1,intron_variant,,ENST00000243112,;SMUG1,intron_variant,,ENST00000513838,;SMUG1,intron_variant,,ENST00000514685,;SMUG1,downstream_gene_variant,,ENST00000503306,;SMUG1,downstream_gene_variant,,ENST00000504797,;SMUG1,downstream_gene_variant,,ENST00000401977,;SMUG1,downstream_gene_variant,,ENST00000506169,;SMUG1,downstream_gene_variant,,ENST00000507904,;SMUG1,downstream_gene_variant,,ENST00000514196,;SMUG1,downstream_gene_variant,,ENST00000504338,;SMUG1,non_coding_transcript_exon_variant,,ENST00000505662,;SMUG1,intron_variant,,ENST00000509864,;SMUG1,intron_variant,,ENST00000511854,;SMUG1,downstream_gene_variant,,ENST00000511522,;SMUG1,downstream_gene_variant,,ENST00000509078,;SMUG1,downstream_gene_variant,,ENST00000503447,;	1077	12	20	SUCCESS
NLE1	54475	.	GRCh37	17	33459359	33459359	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs1567743259	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	38	70	0	ENST00000442241.4:c.*97C>G			ENST00000442241	NM_001014445.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11291.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGGGTGTG	NONE	.	.	.	.	.	ENSP00000413572	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000442241	Transcript	.	.	ENSG00000073536	19889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NLE1_HUMAN	NLE1	HGNC	K7ERN7_HUMAN	.	UPI000013D293	SNV	NLE1,3_prime_UTR_variant,,ENST00000586869,;NLE1,3_prime_UTR_variant,,ENST00000442241,;NLE1,3_prime_UTR_variant,,ENST00000360831,;NLE1,3_prime_UTR_variant,,ENST00000588019,;FNDC8,downstream_gene_variant,,ENST00000158009,;NLE1,downstream_gene_variant,,ENST00000593176,;NLE1,downstream_gene_variant,,ENST00000589367,;NLE1,downstream_gene_variant,,ENST00000588642,;	1595	70	74	SUCCESS
VASP	7408	.	GRCh37	19	46032587	46032587	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	17	106	0				ENST00000245932	NM_003370.3	90		0	.	.	.	.	.	T	F/L	protein_coding	YES	CCDS33052.1	270	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATGAAGAT	NONE	.	.	Pfam_domain:PF07047,hmmpanther:PTHR12499,hmmpanther:PTHR12499:SF0	.	.	ENSP00000319817	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000323060	Transcript	1	.	ENSG00000125741	8142	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.99)	.	deleterious(0)	.	OPA3_HUMAN	OPA3	HGNC	.	.	UPI0000140FD5	SNV	OPA3,missense_variant,p.Phe90Leu,ENST00000323060,;VASP,downstream_gene_variant,,ENST00000245932,;VASP,downstream_gene_variant,,ENST00000587444,;VASP,downstream_gene_variant,,ENST00000588273,;VASP,downstream_gene_variant,,ENST00000588463,;VASP,downstream_gene_variant,,ENST00000586014,;VASP,downstream_gene_variant,,ENST00000588482,;	348	106	67	SUCCESS
NDUFS5	4725	.	GRCh37	1	39500237	39500237	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1158133227	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	22	57	0	ENST00000372967.3:c.*69C>T			ENST00000372967	NM_001184979.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS434.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTACGACAA	NONE	.	.	.	.	.	ENSP00000362060	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372969	Transcript	.	.	ENSG00000168653	7712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUS5_HUMAN	NDUFS5	HGNC	Q6IBA0_HUMAN	.	UPI000013E824	SNV	NDUFS5,3_prime_UTR_variant,,ENST00000372967,;NDUFS5,3_prime_UTR_variant,,ENST00000372969,;	477	57	59	SUCCESS
TSPAN5	10098	.	GRCh37	4	99393577	99393577	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	22	0	ENST00000305798.3:c.*96A>G			ENST00000305798	NM_005723.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3646.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGTGATTA	NONE	.	.	.	.	.	ENSP00000307701	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000305798	Transcript	.	.	ENSG00000168785	17753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN5_HUMAN	TSPAN5	HGNC	D6RGZ7_HUMAN,D6R9N6_HUMAN,B7Z317_HUMAN	.	UPI0000022DE0	SNV	TSPAN5,3_prime_UTR_variant,,ENST00000305798,;TSPAN5,3_prime_UTR_variant,,ENST00000505184,;TSPAN5,3_prime_UTR_variant,,ENST00000508798,;TSPAN5,non_coding_transcript_exon_variant,,ENST00000511753,;	1306	22	26	SUCCESS
CARD6	84674	.	GRCh37	5	40854556	40854556	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A73A-01	TCGA-DD-A73A-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	82	0	ENST00000254691.5:c.*8A>C			ENST00000254691	NM_032587.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3935.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTAACTCCA	NONE	.	.	.	.	.	ENSP00000254691	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254691	Transcript	.	.	ENSG00000132357	16394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CARD6_HUMAN	CARD6	HGNC	.	.	UPI000013CE50	SNV	CARD6,3_prime_UTR_variant,,ENST00000254691,;CARD6,intron_variant,,ENST00000381677,;	3321	82	81	SUCCESS
APLNR	187	.	GRCh37	11	57003228	57003228	+	intron_variant,NMD_transcript_variant	Intron	SNP	T	T	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	23	0	ENST00000257254.3:c.*70+38A>G			ENST00000257254				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7950.1	.	MUTECT|MUSE	.	GACAGTTAAAG	NONE	.	.	.	.	.	ENSP00000475344	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000606794	Transcript	.	.	ENSG00000134817	339	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	APJ_HUMAN	APLNR	HGNC	.	.	UPI0000001622	SNV	APLNR,3_prime_UTR_variant,,ENST00000606794,;APLNR,intron_variant,,ENST00000257254,;	1448	23	24	SUCCESS
KIAA0391	0	.	GRCh37	14	35742836	35742836	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	32	0	ENST00000534898.4:c.*64G>T			ENST00000534898				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32063.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTGAGCTG	NONE	.	.	.	.	.	ENSP00000440915	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000534898	Transcript	.	.	ENSG00000100890	19958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRRP3_HUMAN	KIAA0391	HGNC	S4R416_HUMAN,S4R3T4_HUMAN,S4R3S1_HUMAN	.	UPI000000CC23	SNV	KIAA0391,3_prime_UTR_variant,,ENST00000605870,;KIAA0391,3_prime_UTR_variant,,ENST00000604948,;KIAA0391,3_prime_UTR_variant,,ENST00000250377,;KIAA0391,3_prime_UTR_variant,,ENST00000603544,;KIAA0391,3_prime_UTR_variant,,ENST00000534898,;KIAA0391,3_prime_UTR_variant,,ENST00000321130,;KIAA0391,downstream_gene_variant,,ENST00000557404,;KIAA0391,3_prime_UTR_variant,,ENST00000557565,;	2176	32	36	SUCCESS
ELAVL4	1996	.	GRCh37	1	50666911	50666911	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs972237380	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	29	0	ENST00000371823.4:c.*61G>A			ENST00000371823	NM_021952.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44139.1	.	MUTECT|MUSE	.	CGCGCGCACAC	NONE	.	.	.	.	.	ENSP00000349594	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000357083	Transcript	.	.	ENSG00000162374	3315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELAV4_HUMAN	ELAVL4	HGNC	B7Z5E0_HUMAN	.	UPI000006F633	SNV	ELAVL4,3_prime_UTR_variant,,ENST00000371819,;ELAVL4,3_prime_UTR_variant,,ENST00000357083,;ELAVL4,3_prime_UTR_variant,,ENST00000371824,;ELAVL4,3_prime_UTR_variant,,ENST00000448907,;ELAVL4,3_prime_UTR_variant,,ENST00000371821,;ELAVL4,3_prime_UTR_variant,,ENST00000371827,;ELAVL4,3_prime_UTR_variant,,ENST00000371823,;RP11-567C20.3,downstream_gene_variant,,ENST00000440897,;ELAVL4,downstream_gene_variant,,ENST00000474675,;	1255	29	19	SUCCESS
SH3BGR	6450	.	GRCh37	21	40887102	40887102	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs11556793	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	81	0	ENST00000333634.4:c.*122G>A			ENST00000333634	NM_007341.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13666.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGGTTAC	NONE	.	.	.	.	.	ENSP00000332513	.	7/7	.	.	.	.	.	.	.	.	rs11556793	7/7	PASS	ENST00000333634	Transcript	.	.	ENSG00000185437	10822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SH3BG_HUMAN	SH3BGR	HGNC	C9JX40_HUMAN	.	UPI00001B03C6	SNV	SH3BGR,3_prime_UTR_variant,,ENST00000380631,;SH3BGR,3_prime_UTR_variant,,ENST00000447939,;SH3BGR,3_prime_UTR_variant,,ENST00000333634,;SH3BGR,3_prime_UTR_variant,,ENST00000458295,;SH3BGR,3_prime_UTR_variant,,ENST00000380637,;SH3BGR,3_prime_UTR_variant,,ENST00000452550,;SH3BGR,3_prime_UTR_variant,,ENST00000380634,;SH3BGR,downstream_gene_variant,,ENST00000423596,;SH3BGR,downstream_gene_variant,,ENST00000440288,;	920	81	68	SUCCESS
LIMD1	8994	.	GRCh37	3	45718605	45718605	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	12	20	0	ENST00000273317.4:c.*54G>T			ENST00000273317	NM_014240.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2729.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTGCTGCT	NONE	.	.	.	.	.	ENSP00000273317	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000273317	Transcript	.	.	ENSG00000144791	6612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIMD1_HUMAN	LIMD1	HGNC	.	.	UPI0000043C33	SNV	LIMD1,3_prime_UTR_variant,,ENST00000273317,;LIMD1,downstream_gene_variant,,ENST00000440097,;LIMD1-AS1,downstream_gene_variant,,ENST00000429798,;LIMD1-AS1,downstream_gene_variant,,ENST00000427644,;LIMD1,downstream_gene_variant,,ENST00000465039,;LIMD1,downstream_gene_variant,,ENST00000474665,;	2106	20	25	SUCCESS
ZFP2	80108	.	GRCh37	5	178360145	178360145	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	67	0	ENST00000361362.2:c.*445A>G			ENST00000361362	NM_030613.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4440.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTAGAAAT	NONE	.	.	.	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,3_prime_UTR_variant,,ENST00000361362,;ZFP2,downstream_gene_variant,,ENST00000520301,;ZFP2,downstream_gene_variant,,ENST00000503510,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520805,;	2361	67	69	SUCCESS
RAB3C	115827	.	GRCh37	5	58147340	58147340	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	15	0	ENST00000282878.4:c.*162A>C			ENST00000282878	NM_138453.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3976.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTAATATG	NONE	.	.	.	.	.	ENSP00000282878	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000282878	Transcript	.	.	ENSG00000152932	30269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB3C_HUMAN	RAB3C	HGNC	.	.	UPI0000133178	SNV	RAB3C,3_prime_UTR_variant,,ENST00000282878,;CTD-2176I21.2,intron_variant,,ENST00000510198,;RAB3C,non_coding_transcript_exon_variant,,ENST00000381158,;	1015	15	15	SUCCESS
RNF144B	255488	.	GRCh37	6	18465336	18465336	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	87	0	ENST00000259939.3:c.*38C>A			ENST00000259939	NM_182757.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34345.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTACATGAG	NONE	.	.	.	.	.	ENSP00000259939	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000259939	Transcript	.	.	ENSG00000137393	21578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	R144B_HUMAN	RNF144B	HGNC	.	.	UPI00001B2DA3	SNV	RNF144B,3_prime_UTR_variant,,ENST00000429054,;RNF144B,3_prime_UTR_variant,,ENST00000259939,;	1267	87	81	SUCCESS
C4B-AS1	106480730	.	GRCh37	6	31997490	31997490	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-DD-A73B-01	TCGA-DD-A73B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	47	236	0				ENST00000415626		1275		0	.	.	.	.	.	C	H/P	protein_coding	YES	CCDS47405.1	3824	RADIA|MUTECT|VARSCANS	.	GCTTCACGAGG	NONE	.	.	Low_complexity_(Seg):seg,Superfamily_domains:SSF48239,Pfam_domain:PF07678,Gene3D:1.50.10.20,hmmpanther:PTHR11412:SF86,hmmpanther:PTHR11412	.	.	ENSP00000415941	.	29/41	.	.	.	.	.	.	.	.	.	29/41	PASS	ENST00000435363	Transcript	.	.	ENSG00000224389	1324	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.317)	.	tolerated(0.11)	.	CO4B_HUMAN	C4B	HGNC	Q9UMV1_HUMAN,Q9UM89_HUMAN,Q6U2M2_HUMAN,Q6U2E7_HUMAN,Q6U2E0_HUMAN	.	UPI000016A806	SNV	C4B,missense_variant,p.His1275Pro,ENST00000435363,;C4B,missense_variant,p.His1275Pro,ENST00000425700,;C4B-AS1,downstream_gene_variant,,ENST00000415626,;C4B,upstream_gene_variant,,ENST00000473957,;C4B,downstream_gene_variant,,ENST00000478438,;C4B,upstream_gene_variant,,ENST00000496065,;C4B,downstream_gene_variant,,ENST00000461632,;C4B,upstream_gene_variant,,ENST00000478388,;C4B,upstream_gene_variant,,ENST00000468936,;C4B,upstream_gene_variant,,ENST00000485263,;C4B,upstream_gene_variant,,ENST00000468237,;C4B,upstream_gene_variant,,ENST00000463249,;C4B,upstream_gene_variant,,ENST00000496560,;C4B,upstream_gene_variant,,ENST00000486992,;C4B,downstream_gene_variant,,ENST00000474912,;	3908	236	214	SUCCESS
PSTK	118672	.	GRCh37	10	124749801	124749801	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	97	246	0	ENST00000368887.3:c.*113A>T			ENST00000368887	NM_153336.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7633.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCAGCAAA	NONE	.	.	.	.	.	ENSP00000357882	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368887	Transcript	.	.	ENSG00000179988	28578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSTK_HUMAN	PSTK	HGNC	.	.	UPI000013F992	SNV	PSTK,missense_variant,p.Gln331Leu,ENST00000406217,;PSTK,3_prime_UTR_variant,,ENST00000368887,;PSTK,3_prime_UTR_variant,,ENST00000405485,;IKZF5,downstream_gene_variant,,ENST00000368886,;PSTK,non_coding_transcript_exon_variant,,ENST00000496079,;PSTK,non_coding_transcript_exon_variant,,ENST00000483455,;PSTK,non_coding_transcript_exon_variant,,ENST00000497219,;PSTK,non_coding_transcript_exon_variant,,ENST00000483755,;PSTK,non_coding_transcript_exon_variant,,ENST00000465232,;PSTK,downstream_gene_variant,,ENST00000493461,;	1600	247	245	SUCCESS
IRF2BPL	64207	.	GRCh37	14	77491726	77491726	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs201849597	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	46	0	ENST00000238647.3:c.*19C>T			ENST00000238647	NM_024496.3			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS9854.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAGGAGGTG	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000238647	A:0	1/1	.	.	.	.	.	.	.	.	rs201849597	1/1	PASS	ENST00000238647	Transcript	.	A:0.0002	ENSG00000119669	14282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	I2BPL_HUMAN	IRF2BPL	HGNC	.	.	UPI00000738BA	SNV	IRF2BPL,3_prime_UTR_variant,,ENST00000238647,;	3309	46	33	SUCCESS
HIRIP3	8479	.	GRCh37	16	30002417	30002417	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs138889090	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	29	0				ENST00000279392	NM_003609.4			0	A:0.0005	.	.	.	.	A	.	protein_coding	YES	CCDS10663.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATCCGCAGTC	NONE	byCluster	2698	.	.	A:0	ENSP00000310094	.	.	.	.	.	.	.	.	.	.	rs138889090	.	PASS	ENST00000308893	Transcript	.	.	ENSG00000149930	16835	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TAOK2_HUMAN	TAOK2	HGNC	.	.	UPI000013EDDA	SNV	TAOK2,missense_variant,p.Arg893His,ENST00000279394,;INO80E,upstream_gene_variant,,ENST00000304516,;HIRIP3,downstream_gene_variant,,ENST00000564026,;HIRIP3,downstream_gene_variant,,ENST00000279392,;TAOK2,downstream_gene_variant,,ENST00000543033,;INO80E,upstream_gene_variant,,ENST00000563197,;TAOK2,downstream_gene_variant,,ENST00000416441,;TAOK2,downstream_gene_variant,,ENST00000308893,;HIRIP3,downstream_gene_variant,,ENST00000566471,;TAOK2,non_coding_transcript_exon_variant,,ENST00000570844,;HIRIP3,downstream_gene_variant,,ENST00000563680,;HIRIP3,downstream_gene_variant,,ENST00000563053,;HIRIP3,downstream_gene_variant,,ENST00000568880,;HIRIP3,downstream_gene_variant,,ENST00000565996,;TAOK2,downstream_gene_variant,,ENST00000566552,;	.	29	26	SUCCESS
QPCT	25797	.	GRCh37	2	37600060	37600060	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	29	0	ENST00000338415.3:c.*90G>C			ENST00000338415	NM_012413.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1790.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTGTGTGG	NONE	.	.	.	.	.	ENSP00000344829	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000338415	Transcript	.	.	ENSG00000115828	9753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QPCT_HUMAN	QPCT	HGNC	.	.	UPI000000DC4F	SNV	QPCT,3_prime_UTR_variant,,ENST00000338415,;QPCT,3_prime_UTR_variant,,ENST00000537448,;QPCT,downstream_gene_variant,,ENST00000404976,;QPCT,downstream_gene_variant,,ENST00000444022,;QPCT,non_coding_transcript_exon_variant,,ENST00000469098,;QPCT,downstream_gene_variant,,ENST00000480050,;	1334	29	18	SUCCESS
DHX57	90957	.	GRCh37	2	39041005	39041005	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	.	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	183	8	251	0	ENST00000457308.1:c.*1937A>G			ENST00000457308		1213		0	.	.	.	.	.	C	I/M	protein_coding	YES	CCDS1800.1	3639	MUTECT|MUSE	.	GCTGATATCAG	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Pfam_domain:PF07717	.	.	ENSP00000295373	.	21/24	.	.	.	.	.	.	.	.	COSM1637970	21/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	1	.	.	benign(0.145)	.	tolerated(0.45)	1	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	SNV	DHX57,missense_variant,p.Ile537Met,ENST00000452978,;DHX57,missense_variant,p.Ile1213Met,ENST00000295373,;DHX57,downstream_gene_variant,,ENST00000442331,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000497514,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;ASS1P2,upstream_gene_variant,,ENST00000439895,;	3766	251	191	SUCCESS
FAM43A	131583	.	GRCh37	3	194408917	194408917	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1043247562	.	TCGA-DD-A73C-01	TCGA-DD-A73C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	39	121	0	ENST00000329759.4:c.*90G>A			ENST00000329759	NM_153690.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33923.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGGAAATG	NONE	.	.	.	.	.	ENSP00000371397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329759	Transcript	.	.	ENSG00000185112	26888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA43A_HUMAN	FAM43A	HGNC	.	.	UPI0000074368	SNV	FAM43A,3_prime_UTR_variant,,ENST00000329759,;	2296	121	89	SUCCESS
FLRT1	23769	.	GRCh37	11	63886531	63886531	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	39	44	0	ENST00000246841.3:c.*767C>T			ENST00000246841	NM_013280.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8057.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCTATCCCTGT	NONE	.	.	.	.	.	ENSP00000246841	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000246841	Transcript	.	.	ENSG00000126500	3760	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FLRT1_HUMAN	FLRT1	HGNC	O43408_HUMAN	.	UPI0000039F94	SNV	FLRT1,3_prime_UTR_variant,,ENST00000246841,;MACROD1,intron_variant,,ENST00000255681,;RP11-21A7A.3,intron_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000545464,;	3835	45	76	SUCCESS
FLRT2	23768	.	GRCh37	14	86091325	86091325	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	52	81	1	ENST00000330753.4:c.*1484T>C			ENST00000330753	NM_013231.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTTAGCAG	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,intron_variant,,ENST00000553650,;	4234	82	105	SUCCESS
LDHAL6B	92483	.	GRCh37	15	59500440	59500440	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	31	77	0	ENST00000307144.4:c.*155G>A			ENST00000307144	NM_033195.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10171.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATTGAGCAT	NONE	.	.	.	.	.	ENSP00000302393	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307144	Transcript	.	.	ENSG00000171989	21481	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDH6B_HUMAN	LDHAL6B	HGNC	.	.	UPI000012E326	SNV	LDHAL6B,3_prime_UTR_variant,,ENST00000307144,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,intron_variant,,ENST00000560749,;MYO1E,intron_variant,,ENST00000288235,;MYO1E,downstream_gene_variant,,ENST00000559489,;RNU4-80P,downstream_gene_variant,,ENST00000363200,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,intron_variant,,ENST00000560642,;	1399	77	59	SUCCESS
MED24	9862	.	GRCh37	17	38175704	38175704	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	34	14	0	ENST00000394128.2:c.*78T>A			ENST00000394128	NM_014815.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11359.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCATCTTT	NONE	.	.	.	.	.	ENSP00000377686	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000394128	Transcript	.	.	ENSG00000008838	22963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED24_HUMAN	MED24	HGNC	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN	.	UPI000013677A	SNV	MED24,3_prime_UTR_variant,,ENST00000356271,;MED24,3_prime_UTR_variant,,ENST00000394128,;MED24,3_prime_UTR_variant,,ENST00000394126,;MED24,3_prime_UTR_variant,,ENST00000394127,;CSF3,downstream_gene_variant,,ENST00000225474,;MED24,downstream_gene_variant,,ENST00000422942,;CSF3,downstream_gene_variant,,ENST00000577675,;MED24,downstream_gene_variant,,ENST00000535071,;MED24,downstream_gene_variant,,ENST00000501516,;CSF3,downstream_gene_variant,,ENST00000331769,;MED24,downstream_gene_variant,,ENST00000580885,;CSF3,downstream_gene_variant,,ENST00000394149,;CSF3,downstream_gene_variant,,ENST00000394148,;CSF3,downstream_gene_variant,,ENST00000583218,;RP11-387H17.6,upstream_gene_variant,,ENST00000583462,;RP11-387H17.6,upstream_gene_variant,,ENST00000584649,;MED24,downstream_gene_variant,,ENST00000470126,;MED24,3_prime_UTR_variant,,ENST00000535508,;MED24,3_prime_UTR_variant,,ENST00000491466,;MED24,non_coding_transcript_exon_variant,,ENST00000579364,;MED24,downstream_gene_variant,,ENST00000492176,;CSF3,downstream_gene_variant,,ENST00000479880,;MED24,downstream_gene_variant,,ENST00000580720,;MED24,downstream_gene_variant,,ENST00000581058,;CSF3,downstream_gene_variant,,ENST00000579852,;CSF3,downstream_gene_variant,,ENST00000582798,;	3130	14	42	SUCCESS
RFWD2	0	.	GRCh37	1	175914029	175914029	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	47	39	0	ENST00000367669.3:c.*260T>A			ENST00000367669	NM_022457.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30944.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTATCACA	NONE	.	.	.	.	.	ENSP00000356641	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000367669	Transcript	.	.	ENSG00000143207	17440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFWD2_HUMAN	RFWD2	HGNC	B3KM72_HUMAN	.	UPI0000061E51	SNV	RFWD2,3_prime_UTR_variant,,ENST00000367666,;RFWD2,3_prime_UTR_variant,,ENST00000367669,;RFWD2,downstream_gene_variant,,ENST00000308769,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000482305,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	2971	39	96	SUCCESS
BTG2	7832	.	GRCh37	1	203276577	203276581	+	3_prime_UTR_variant	3'UTR	DEL	CCCCG	CCCCG	-	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	CCCCG	CCCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	16	0	ENST00000290551.4:c.*14_*18del			ENST00000290551	NM_006763.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1437.1	.	INDELOCATOR|VARSCANI	.	TTCCGCCCCCGCCCTG	NONE	.	.	.	.	.	ENSP00000290551	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000290551	Transcript	.	.	ENSG00000159388	1131	3	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTG2_HUMAN	BTG2	HGNC	.	.	UPI000011DD3B	deletion	BTG2,3_prime_UTR_variant,,ENST00000290551,;LINC01136,upstream_gene_variant,,ENST00000425698,;LINC01136,upstream_gene_variant,,ENST00000432511,;LINC01136,upstream_gene_variant,,ENST00000457348,;BTG2,3_prime_UTR_variant,,ENST00000475157,;	559-563	16	31	SUCCESS
TMEM206	0	.	GRCh37	1	212538414	212538414	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	16	0	ENST00000535273.1:c.*143T>G			ENST00000535273	NM_001198862.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55687.1	.	MUTECT|MUSE	.	TTAGAAGTTCC	NONE	.	.	.	.	.	ENSP00000438863	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000535273	Transcript	.	.	ENSG00000065600	25593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM206_HUMAN	TMEM206	HGNC	B4DHQ5_HUMAN	.	UPI0001914DBE	SNV	TMEM206,3_prime_UTR_variant,,ENST00000261455,;TMEM206,3_prime_UTR_variant,,ENST00000535273,;PPP2R5A,downstream_gene_variant,,ENST00000537030,;PPP2R5A,downstream_gene_variant,,ENST00000261461,;	1523	16	33	SUCCESS
TMEM206	0	.	GRCh37	1	212538435	212538435	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	20	0	ENST00000535273.1:c.*122A>C			ENST00000535273	NM_001198862.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55687.1	.	MUTECT|MUSE	.	GCTGTTCCTCC	NONE	.	.	.	.	.	ENSP00000438863	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000535273	Transcript	.	.	ENSG00000065600	25593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM206_HUMAN	TMEM206	HGNC	B4DHQ5_HUMAN	.	UPI0001914DBE	SNV	TMEM206,3_prime_UTR_variant,,ENST00000261455,;TMEM206,3_prime_UTR_variant,,ENST00000535273,;PPP2R5A,downstream_gene_variant,,ENST00000537030,;PPP2R5A,downstream_gene_variant,,ENST00000261461,;	1502	20	38	SUCCESS
OLIG1	116448	.	GRCh37	21	34443841	34443841	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs896734244	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	8	0	ENST00000382348.1:c.*473C>T			ENST00000382348	NM_138983.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42920.2	.	MUTECT|MUSE	.	CTTTTCCTTCT	NONE	.	.	.	.	.	ENSP00000371785	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382348	Transcript	.	.	ENSG00000184221	16983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OLIG1_HUMAN	OLIG1	HGNC	Q59EM0_HUMAN	.	UPI0000130C80	SNV	OLIG1,3_prime_UTR_variant,,ENST00000333063,;OLIG1,3_prime_UTR_variant,,ENST00000426947,;OLIG1,3_prime_UTR_variant,,ENST00000382348,;AP000282.2,upstream_gene_variant,,ENST00000454622,;AP000282.2,upstream_gene_variant,,ENST00000420356,;OLIG1,upstream_gene_variant,,ENST00000498799,;	1392	8	12	SUCCESS
SLC5A3	6526	.	GRCh37	21	35478310	35478310	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	56	117	1	ENST00000381151.3:c.*8656A>G			ENST00000381151				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAAAAAGCA	NONE	.	.	.	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,3_prime_UTR_variant,,ENST00000608209,;SLC5A3,3_prime_UTR_variant,,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	11325	118	127	SUCCESS
SOWAHC	65124	.	GRCh37	2	110375103	110375103	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	103	66	109	0	ENST00000356454.3:c.*1459T>G			ENST00000356454	NM_023016.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33270.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATTTAAACA	NONE	.	.	.	.	.	ENSP00000365830	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356454	Transcript	.	.	ENSG00000198142	26149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWAHC_HUMAN	SOWAHC	HGNC	.	.	UPI0000208A9B	SNV	SOWAHC,3_prime_UTR_variant,,ENST00000356454,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000545389,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000397712,;SEPT10,upstream_gene_variant,,ENST00000334001,;SEPT10,upstream_gene_variant,,ENST00000397714,;SEPT10,upstream_gene_variant,,ENST00000356688,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	3193	109	169	SUCCESS
PTMA	5757	.	GRCh37	2	232578235	232578235	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	28	76	0	ENST00000341369.7:c.*674T>A			ENST00000341369	NM_001099285.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42833.1	.	MUTECT|MUSE	.	TTTGCTGAGTT	NONE	.	.	.	.	.	ENSP00000344547	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,3_prime_UTR_variant,,ENST00000341369,;PTMA,3_prime_UTR_variant,,ENST00000409115,;PTMA,downstream_gene_variant,,ENST00000410064,;PTMA,downstream_gene_variant,,ENST00000412128,;PTMA,downstream_gene_variant,,ENST00000409321,;PTMA,downstream_gene_variant,,ENST00000440384,;PTMA,downstream_gene_variant,,ENST00000409683,;PTMA,downstream_gene_variant,,ENST00000466801,;PTMA,downstream_gene_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;PTMA,downstream_gene_variant,,ENST00000448874,;	1201	76	105	SUCCESS
PRRT3	285368	.	GRCh37	3	9987746	9987746	+	intron_variant,NMD_transcript_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	14	0	ENST00000295984.3:c.*142+23A>C			ENST00000295984				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43049.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGAACTCCTGA	NONE	.	.	.	.	.	ENSP00000392511	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000412055	Transcript	.	.	ENSG00000163704	26591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRRT3_HUMAN	PRRT3	HGNC	.	.	UPI000019962A	SNV	PRRT3,3_prime_UTR_variant,,ENST00000412055,;CRELD1,downstream_gene_variant,,ENST00000435417,;CRELD1,downstream_gene_variant,,ENST00000452070,;PRRT3,downstream_gene_variant,,ENST00000411976,;CRELD1,downstream_gene_variant,,ENST00000383811,;CRELD1,downstream_gene_variant,,ENST00000326434,;CRELD1,downstream_gene_variant,,ENST00000397170,;PRRT3-AS1,upstream_gene_variant,,ENST00000431558,;CRELD1,downstream_gene_variant,,ENST00000489674,;PRRT3,intron_variant,,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000467713,;CRELD1,downstream_gene_variant,,ENST00000414117,;CRELD1,downstream_gene_variant,,ENST00000482691,;	3241	14	15	SUCCESS
SAYSD1	55776	.	GRCh37	6	39073112	39073112	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	26	0	ENST00000229903.4:c.*96T>A			ENST00000229903	NM_018322.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4840.1	.	MUTECT|MUSE	.	CCCGCAAGCTG	NONE	.	.	.	.	.	ENSP00000229903	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229903	Transcript	.	.	ENSG00000112167	21025	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMDC1_HUMAN	SAYSD1	HGNC	.	.	UPI0000039E7F	SNV	SAYSD1,3_prime_UTR_variant,,ENST00000373249,;SAYSD1,3_prime_UTR_variant,,ENST00000229903,;ANKRD18EP,upstream_gene_variant,,ENST00000405487,;	748	26	48	SUCCESS
FOXP4	116113	.	GRCh37	6	41566906	41566906	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	9	0	ENST00000307972.4:c.*232G>A			ENST00000307972				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34447.1	.	MUTECT|MUSE	.	CGGAGGGTTCA	NONE	.	.	.	.	.	ENSP00000362151	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000373060	Transcript	.	.	ENSG00000137166	20842	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXP4_HUMAN	FOXP4	HGNC	Q8N4A5_HUMAN,Q69YN9_HUMAN	.	UPI000007462D	SNV	FOXP4,3_prime_UTR_variant,,ENST00000373063,;FOXP4,3_prime_UTR_variant,,ENST00000307972,;FOXP4,3_prime_UTR_variant,,ENST00000409208,;FOXP4,3_prime_UTR_variant,,ENST00000373057,;FOXP4,3_prime_UTR_variant,,ENST00000373060,;MIR4641,downstream_gene_variant,,ENST00000578353,;	2733	9	13	SUCCESS
ZNF75D	7626	.	GRCh37	X	134420987	134420987	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A73D-01	TCGA-DD-A73D-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	23	0	ENST00000370766.3:c.*82A>C			ENST00000370766	NM_007131.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14648.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAATCACAG	NONE	.	.	.	.	.	ENSP00000359802	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370766	Transcript	.	.	ENSG00000186376	13145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN75D_HUMAN	ZNF75D	HGNC	.	.	UPI000022DD3A	SNV	ZNF75D,3_prime_UTR_variant,,ENST00000370764,;ZNF75D,3_prime_UTR_variant,,ENST00000370766,;ZNF75D,non_coding_transcript_exon_variant,,ENST00000469456,;ZNF75D,intron_variant,,ENST00000494295,;	4325	23	17	SUCCESS
ZNF488	118738	.	GRCh37	10	48373662	48373662	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	38	44	0	ENST00000395702.2:c.*2107G>T			ENST00000395702				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7217.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGCCTCT	NONE	.	.	.	.	.	ENSP00000379054	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395702	Transcript	.	.	ENSG00000165388	23535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN488_HUMAN	ZNF488	HGNC	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN	.	UPI00000736CF	SNV	ZNF488,3_prime_UTR_variant,,ENST00000395702,;ZNF488,3_prime_UTR_variant,,ENST00000586537,;ZNF488,3_prime_UTR_variant,,ENST00000494156,;ZNF488,downstream_gene_variant,,ENST00000444585,;ZNF488,downstream_gene_variant,,ENST00000442001,;ZNF488,downstream_gene_variant,,ENST00000433077,;ZNF488,downstream_gene_variant,,ENST00000436850,;ZNF488,downstream_gene_variant,,ENST00000412534,;ZNF488,downstream_gene_variant,,ENST00000425196,;	3357	44	72	SUCCESS
CSAD	51380	.	GRCh37	12	53552186	53552186	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	22	0	ENST00000444623.1:c.*109G>T			ENST00000444623	NM_001244705.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8848.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGCTGGGA	NONE	.	.	.	.	.	ENSP00000267085	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000267085	Transcript	.	.	ENSG00000139631	18966	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSAD_HUMAN	CSAD	HGNC	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN	.	UPI0000E59693	SNV	CSAD,3_prime_UTR_variant,,ENST00000444623,;CSAD,3_prime_UTR_variant,,ENST00000267085,;CSAD,3_prime_UTR_variant,,ENST00000379846,;CSAD,3_prime_UTR_variant,,ENST00000379843,;CSAD,3_prime_UTR_variant,,ENST00000379850,;CSAD,downstream_gene_variant,,ENST00000453446,;CSAD,downstream_gene_variant,,ENST00000548698,;RP11-1136G11.8,upstream_gene_variant,,ENST00000550908,;CSAD,3_prime_UTR_variant,,ENST00000475890,;CSAD,downstream_gene_variant,,ENST00000485004,;CSAD,downstream_gene_variant,,ENST00000483632,;CSAD,downstream_gene_variant,,ENST00000490589,;CSAD,downstream_gene_variant,,ENST00000490923,;RP11-1136G11.6,downstream_gene_variant,,ENST00000550578,;	1906	22	25	SUCCESS
TMCO3	55002	.	GRCh37	13	114204185	114204185	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	9	0	ENST00000434316.2:c.*332T>C			ENST00000434316	NM_017905.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9537.1	.	MUTECT|MUSE|VARSCANS	.	GTTCATAGTTT	NONE	.	.	.	.	.	ENSP00000389399	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000434316	Transcript	.	.	ENSG00000150403	20329	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TMCO3_HUMAN	TMCO3	HGNC	.	.	UPI000004C642	SNV	TMCO3,3_prime_UTR_variant,,ENST00000375391,;TMCO3,3_prime_UTR_variant,,ENST00000434316,;TMCO3,non_coding_transcript_exon_variant,,ENST00000460039,;TMCO3,downstream_gene_variant,,ENST00000491166,;	2725	9	12	SUCCESS
RXFP2	122042	.	GRCh37	13	32376631	32376631	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	21	0	ENST00000298386.2:c.*89T>C			ENST00000298386	NM_130806.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9342.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTTACCAA	NONE	.	.	.	.	.	ENSP00000298386	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000298386	Transcript	.	.	ENSG00000133105	17318	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RXFP2_HUMAN	RXFP2	HGNC	.	.	UPI0000049589	SNV	RXFP2,3_prime_UTR_variant,,ENST00000380314,;RXFP2,3_prime_UTR_variant,,ENST00000298386,;	2425	21	23	SUCCESS
NAA30	122830	.	GRCh37	14	57876258	57876258	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs768716763	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	50	0	ENST00000556492.1:c.*24A>G			ENST00000556492	NM_001011713.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32088.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACTATCATC	NONE	byFrequency	.	.	.	.	ENSP00000452521	.	5/5	.	.	.	.	.	.	.	.	rs768716763	5/5	PASS	ENST00000556492	Transcript	.	.	ENSG00000139977	19844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NAA30_HUMAN	NAA30	HGNC	B4DK34_HUMAN	.	UPI0000161013	SNV	NAA30,3_prime_UTR_variant,,ENST00000298406,;NAA30,3_prime_UTR_variant,,ENST00000555166,;NAA30,3_prime_UTR_variant,,ENST00000554703,;NAA30,3_prime_UTR_variant,,ENST00000556492,;	1267	50	56	SUCCESS
SNX22	79856	.	GRCh37	15	64446738	64446738	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	71	120	0	ENST00000325881.4:c.*31G>A			ENST00000325881	NM_024798.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10190.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTAAGAAAGT	NONE	.	.	.	.	.	ENSP00000323435	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000325881	Transcript	.	.	ENSG00000157734	16315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX22_HUMAN	SNX22	HGNC	Q8WUS9_HUMAN	.	UPI0000135B52	SNV	SNX22,3_prime_UTR_variant,,ENST00000325881,;PPIB,downstream_gene_variant,,ENST00000300026,;PPIB,downstream_gene_variant,,ENST00000558492,;SNX22,3_prime_UTR_variant,,ENST00000558466,;SNX22,non_coding_transcript_exon_variant,,ENST00000560945,;SNX22,non_coding_transcript_exon_variant,,ENST00000560607,;SNX22,non_coding_transcript_exon_variant,,ENST00000561334,;SNX22,non_coding_transcript_exon_variant,,ENST00000557789,;SNX22,non_coding_transcript_exon_variant,,ENST00000560997,;PPIB,downstream_gene_variant,,ENST00000561048,;	672	120	160	SUCCESS
SLC46A1	113235	.	GRCh37	17	26723269	26723269	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	51	64	0	ENST00000440501.1:c.*3403G>A			ENST00000440501	NM_080669.4	679		0	.	.	.	.	.	T	T	protein_coding	YES	.	2037	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACCAGTTT	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR22998	.	.	ENSP00000406738	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000457710	Transcript	.	.	ENSG00000004139	17074	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SARM1	HGNC	.	.	UPI0000042801	SNV	SARM1,synonymous_variant,p.%3D,ENST00000457710,;SARM1,synonymous_variant,p.%3D,ENST00000578128,;SARM1,3_prime_UTR_variant,,ENST00000579593,;SLC46A1,3_prime_UTR_variant,,ENST00000440501,;SLC46A1,3_prime_UTR_variant,,ENST00000321666,;SLC46A1,downstream_gene_variant,,ENST00000582735,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;SARM1,non_coding_transcript_exon_variant,,ENST00000003834,;SARM1,downstream_gene_variant,,ENST00000580711,;SLC46A1,downstream_gene_variant,,ENST00000582345,;SARM1,downstream_gene_variant,,ENST00000577870,;	2508	64	90	SUCCESS
RAX	30062	.	GRCh37	18	56936200	56936200	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	64	0	ENST00000334889.3:c.*36C>A			ENST00000334889	NM_013435.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11972.1	.	RADIA|MUSE|VARSCANS	.	GGTCGGCCCGG	NONE	.	.	.	.	.	ENSP00000334813	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334889	Transcript	.	.	ENSG00000134438	18662	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RX_HUMAN	RAX	HGNC	G3V2C8_HUMAN	.	UPI000013CF2F	SNV	RAX,3_prime_UTR_variant,,ENST00000256852,;RAX,3_prime_UTR_variant,,ENST00000334889,;RAX,downstream_gene_variant,,ENST00000555288,;RAX,downstream_gene_variant,,ENST00000591550,;	1264	64	68	SUCCESS
GRIK5	2901	.	GRCh37	19	42569934	42569934	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	16	0				ENST00000262895	NM_002088.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12595.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTCCTCAT	NONE	.	12	.	.	.	ENSP00000262895	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000262895	Transcript	.	.	ENSG00000105737	4583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRIK5_HUMAN	GRIK5	HGNC	.	.	UPI000013D353	SNV	GRIK5,5_prime_UTR_variant,,ENST00000301218,;GRIK5,5_prime_UTR_variant,,ENST00000593562,;ZNF574,upstream_gene_variant,,ENST00000222339,;ZNF574,upstream_gene_variant,,ENST00000600245,;GRIK5,upstream_gene_variant,,ENST00000262895,;GRIK5,5_prime_UTR_variant,,ENST00000594528,;	.	16	20	SUCCESS
NLRP7	199713	.	GRCh37	19	55435072	55435072	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs201252011	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	4	60	0	ENST00000340844.2:c.*36C>A			ENST00000340844	NM_206828.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46183.1	.	MUTECT|MUSE	.	ATCCCGCTTCC	NONE	byFrequency|byCluster|by1000G	.	.	.	.	ENSP00000467123	.	13/13	.	.	.	.	.	.	.	.	rs201252011	13/13	PASS	ENST00000588756	Transcript	1	.	ENSG00000167634	22947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NALP7_HUMAN	NLRP7	HGNC	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN	.	UPI000174C6C4	SNV	NLRP7,3_prime_UTR_variant,,ENST00000590030,;NLRP7,3_prime_UTR_variant,,ENST00000446217,;NLRP7,3_prime_UTR_variant,,ENST00000588756,;NLRP7,3_prime_UTR_variant,,ENST00000328092,;NLRP7,3_prime_UTR_variant,,ENST00000448121,;NLRP7,3_prime_UTR_variant,,ENST00000592784,;NLRP7,3_prime_UTR_variant,,ENST00000340844,;NLRP7,3_prime_UTR_variant,,ENST00000586379,;	3637	60	68	SUCCESS
NLRP4	147945	.	GRCh37	19	56393107	56393107	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	12	0	ENST00000301295.6:c.*154G>A			ENST00000301295	NM_134444.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12936.1	.	MUTECT|MUSE	.	CACGTGGTTTT	NONE	.	.	.	.	.	ENSP00000301295	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301295	Transcript	.	.	ENSG00000160505	22943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NALP4_HUMAN	NLRP4	HGNC	K7ES09_HUMAN	.	UPI000013E6FD	SNV	NLRP4,3_prime_UTR_variant,,ENST00000589437,;NLRP4,3_prime_UTR_variant,,ENST00000301295,;NLRP4,3_prime_UTR_variant,,ENST00000346986,;NLRP4,3_prime_UTR_variant,,ENST00000587891,;	3561	12	10	SUCCESS
FRG1B	0	.	GRCh37	20	29633928	29633928	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	305	11	312	0	ENST00000278882.3:c.*18A>C			ENST00000278882				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	ACTGCAAATGA	NONE	.	.	.	.	.	ENSP00000278882	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000278882	Transcript	.	.	ENSG00000149531	15792	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRG1B_HUMAN	FRG1B	HGNC	.	.	UPI000012AC05	SNV	FRG1B,3_prime_UTR_variant,,ENST00000278882,;FRG1B,3_prime_UTR_variant,,ENST00000358464,;AL441988.1,upstream_gene_variant,,ENST00000408392,;FRG1B,downstream_gene_variant,,ENST00000479318,;MLLT10P1,downstream_gene_variant,,ENST00000418346,;	947	312	316	SUCCESS
RIMS4	140730	.	GRCh37	20	43384718	43384718	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	42	72	0	ENST00000372851.3:c.*57G>A			ENST00000372851	NM_001205317.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56191.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCCAGGTC	NONE	.	.	.	.	.	ENSP00000439287	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000541604	Transcript	.	.	ENSG00000101098	16183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMS4_HUMAN	RIMS4	HGNC	.	.	UPI0000367043	SNV	RIMS4,3_prime_UTR_variant,,ENST00000541604,;RIMS4,3_prime_UTR_variant,,ENST00000372851,;	870	72	84	SUCCESS
CYYR1	116159	.	GRCh37	21	27840751	27840751	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	28	0	ENST00000299340.4:c.*69A>G			ENST00000299340	NM_052954.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13578.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTTTCTG	NONE	.	.	.	.	.	ENSP00000299340	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299340	Transcript	.	.	ENSG00000166265	16274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYYR1_HUMAN	CYYR1	HGNC	.	.	UPI0000128D80	SNV	CYYR1,3_prime_UTR_variant,,ENST00000435845,;CYYR1,3_prime_UTR_variant,,ENST00000299340,;AP001596.6,intron_variant,,ENST00000444306,;AP001596.6,intron_variant,,ENST00000421771,;AP001597.1,intron_variant,,ENST00000357401,;AP001597.1,intron_variant,,ENST00000414486,;AP001596.6,intron_variant,,ENST00000429340,;	878	28	33	SUCCESS
TMF1	7110	.	GRCh37	3	69072289	69072289	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	76	102	0	ENST00000398559.2:c.*39A>G			ENST00000398559				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43105.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATGCTTA	NONE	.	.	.	.	.	ENSP00000381567	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000398559	Transcript	.	.	ENSG00000144747	11870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMF1_HUMAN	TMF1	HGNC	.	.	UPI000013D9A7	SNV	TMF1,3_prime_UTR_variant,,ENST00000398559,;TMF1,3_prime_UTR_variant,,ENST00000543976,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,intron_variant,,ENST00000601511,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000596732,;CTD-2013N24.2,intron_variant,,ENST00000599467,;CTD-2013N24.2,intron_variant,,ENST00000598783,;CTD-2013N24.2,intron_variant,,ENST00000597366,;CTD-2013N24.2,intron_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000482368,;TMF1,downstream_gene_variant,,ENST00000489370,;TMF1,3_prime_UTR_variant,,ENST00000488010,;	3538	102	153	SUCCESS
RIPK1	8737	.	GRCh37	6	3113638	3113638	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	25	0	ENST00000259808.4:c.*65T>A			ENST00000259808				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGCTGCCTC	NONE	.	.	.	.	.	ENSP00000259808	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000259808	Transcript	.	.	ENSG00000137275	10019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIPK1_HUMAN	RIPK1	HGNC	.	.	UPI000000DC95	SNV	RIPK1,3_prime_UTR_variant,,ENST00000259808,;RIPK1,3_prime_UTR_variant,,ENST00000380409,;RIPK1,3_prime_UTR_variant,,ENST00000541791,;BPHL,upstream_gene_variant,,ENST00000380368,;BPHL,upstream_gene_variant,,ENST00000380375,;BPHL,upstream_gene_variant,,ENST00000434640,;BPHL,upstream_gene_variant,,ENST00000430655,;BPHL,upstream_gene_variant,,ENST00000424847,;	2379	25	59	SUCCESS
HILPDA	29923	.	GRCh37	7	128097805	128097806	+	3_prime_UTR_variant	3'UTR	INS	-	-	AAATACAAAAGTT	rs375057895	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	14	0	ENST00000257696.4:c.*293_*305dup			ENST00000257696	NM_013332.3			0	.	AAATACAAAAGTT:0.087	.	AAATACAAAAGTT:0.0836	.	AAATACAAAAGTT	.	protein_coding	YES	CCDS5802.1	.	INDELOCATOR|VARSCANI	.	TACTAAAAATA	NONE	byFrequency|byCluster|by1000G	.	.	AAATACAAAAGTT:0	.	ENSP00000257696	AAATACAAAAGTT:0.1392	2/2	.	.	.	.	.	.	.	.	rs375057895	2/2	PASS	ENST00000257696	Transcript	.	AAATACAAAAGTT:0.0665	ENSG00000135245	28859	14	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	AAATACAAAAGTT:0.0204	.	.	HLPDA_HUMAN	HILPDA	HGNC	.	.	UPI00000396B9	insertion	HILPDA,3_prime_UTR_variant,,ENST00000435296,;HILPDA,3_prime_UTR_variant,,ENST00000257696,;HILPDA,intron_variant,,ENST00000481454,;RP11-155G14.6,intron_variant,,ENST00000493710,;HILPDA,intron_variant,,ENST00000466473,;RP11-212P7.3,intron_variant,,ENST00000462662,;	684-685	15	32	SUCCESS
FZD1	8321	.	GRCh37	7	90897410	90897410	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	70	69	0	ENST00000287934.2:c.*1271G>T			ENST00000287934	NM_003505.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5620.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCATGGACTT	NONE	.	.	.	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,3_prime_UTR_variant,,ENST00000287934,;	3628	69	105	SUCCESS
FOXD4L6	653404	.	GRCh37	9	69200270	69200270	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	25	81	0	ENST00000377473.1:c.*89G>A			ENST00000377473	NM_001085476.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43826.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGGCGATAC	NONE	.	.	.	.	.	ENSP00000366693	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377473	Transcript	.	.	ENSG00000204793	31986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FX4L6_HUMAN	FOXD4L6	HGNC	Q8WTR0_HUMAN	.	UPI0000519166	SNV	FOXD4L6,3_prime_UTR_variant,,ENST00000377473,;CBWD6,downstream_gene_variant,,ENST00000382399,;CBWD6,downstream_gene_variant,,ENST00000377449,;CBWD6,downstream_gene_variant,,ENST00000377457,;CBWD6,downstream_gene_variant,,ENST00000416428,;CBWD6,downstream_gene_variant,,ENST00000461037,;CBWD6,downstream_gene_variant,,ENST00000495626,;CBWD6,downstream_gene_variant,,ENST00000498101,;CBWD6,downstream_gene_variant,,ENST00000477430,;CBWD6,downstream_gene_variant,,ENST00000468061,;CBWD6,downstream_gene_variant,,ENST00000466320,;CBWD6,downstream_gene_variant,,ENST00000468763,;	1935	81	84	SUCCESS
IRS4	8471	.	GRCh37	X	107975749	107975749	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	33	0	ENST00000372129.2:c.*52C>A			ENST00000372129	NM_003604.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14544.1	.	MUTECT|MUSE	.	GTAGCGCATCG	NONE	.	.	.	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,3_prime_UTR_variant,,ENST00000372129,;RP6-24A23.6,intron_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	3903	33	41	SUCCESS
AMER1	139285	.	GRCh37	X	63405989	63405989	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	27	0	ENST00000330258.3:c.*3770G>C			ENST00000330258	NM_152424.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14377.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATGACAAGCT	NONE	.	.	.	.	.	ENSP00000329117	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330258	Transcript	.	.	ENSG00000184675	26837	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMER1_HUMAN	AMER1	HGNC	.	.	UPI0000EDA0FC	SNV	AMER1,3_prime_UTR_variant,,ENST00000374869,;AMER1,3_prime_UTR_variant,,ENST00000330258,;AMER1,downstream_gene_variant,,ENST00000403336,;	7451	27	28	SUCCESS
STS	412	.	GRCh37	X	7268307	7268307	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs769540715	.	TCGA-DD-A73E-01	TCGA-DD-A73E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	25	26	0	ENST00000217961.4:c.*5G>T			ENST00000217961	NM_000351.4			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS14127.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGCGCCTGG	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000217961	A:0	10/10	.	.	.	.	.	.	.	.	rs769540715	10/10	PASS	ENST00000217961	Transcript	.	A:0.0003	ENSG00000101846	11425	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	STS_HUMAN	STS	HGNC	.	.	UPI0000136153	SNV	STS,3_prime_UTR_variant,,ENST00000217961,;	1977	26	26	SUCCESS
SERTM1	400120	.	GRCh37	13	37271215	37271215	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	30	81	0	ENST00000315190.3:c.*1676A>G			ENST00000315190	NM_203451.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9358.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACTATTTAT	NONE	.	.	.	.	.	ENSP00000325776	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315190	Transcript	.	.	ENSG00000180440	33792	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRTM1_HUMAN	SERTM1	HGNC	.	.	UPI00000306E4	SNV	SERTM1,3_prime_UTR_variant,,ENST00000315190,;	2446	81	69	SUCCESS
ZNF423	23090	.	GRCh37	16	49525173	49525173	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1418996812	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	12	32	0	ENST00000262383.2:c.*13C>T			ENST00000262383				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32445.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGTTGAG	NONE	.	.	.	.	.	ENSP00000455426	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000561648	Transcript	.	.	ENSG00000102935	16762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN423_HUMAN	ZNF423	HGNC	F5H7S1_HUMAN,B3KNG7_HUMAN	.	UPI0000353ABC	SNV	ZNF423,3_prime_UTR_variant,,ENST00000262383,;ZNF423,3_prime_UTR_variant,,ENST00000563137,;ZNF423,3_prime_UTR_variant,,ENST00000561648,;ZNF423,3_prime_UTR_variant,,ENST00000567169,;ZNF423,3_prime_UTR_variant,,ENST00000535559,;ZNF423,3_prime_UTR_variant,,ENST00000562871,;ZNF423,downstream_gene_variant,,ENST00000562520,;	3922	32	41	SUCCESS
NPHP4	261734	.	GRCh37	1	5923098	5923098	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs577902285	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	10	0	ENST00000378156.4:c.*227C>T			ENST00000378156	NM_015102.3			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS44052.1	.	MUTECT|MUSE	.	AGTTCGCGCTC	NONE	by1000G	.	.	A:0	.	ENSP00000367398	A:0.001	30/30	.	.	.	.	.	.	.	.	rs577902285	30/30	PASS	ENST00000378156	Transcript	.	A:0.0002	ENSG00000131697	19104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	NPHP4_HUMAN	NPHP4	HGNC	.	.	UPI00001303E5	SNV	NPHP4,3_prime_UTR_variant,,ENST00000378156,;MIR4689,upstream_gene_variant,,ENST00000582517,;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,3_prime_UTR_variant,,ENST00000489180,;NPHP4,non_coding_transcript_exon_variant,,ENST00000378161,;NPHP4,non_coding_transcript_exon_variant,,ENST00000460696,;NPHP4,downstream_gene_variant,,ENST00000378169,;NPHP4,downstream_gene_variant,,ENST00000468253,;	4774	10	8	SUCCESS
C21orf33	0	.	GRCh37	21	45565486	45565486	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	28	72	0	ENST00000291577.6:c.*655G>C			ENST00000291577	NM_004649.6			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33580.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCAGGATTG	NONE	.	.	.	.	.	ENSP00000291577	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000291577	Transcript	.	.	ENSG00000160221	1273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ES1_HUMAN	C21orf33	HGNC	.	.	UPI0000169D5E	SNV	C21orf33,missense_variant,p.Gly186Arg,ENST00000419699,;C21orf33,3_prime_UTR_variant,,ENST00000291577,;C21orf33,3_prime_UTR_variant,,ENST00000449622,;C21orf33,3_prime_UTR_variant,,ENST00000348499,;C21orf33,downstream_gene_variant,,ENST00000389690,;C21orf33,downstream_gene_variant,,ENST00000427803,;C21orf33,downstream_gene_variant,,ENST00000493883,;C21orf33,downstream_gene_variant,,ENST00000480786,;C21orf33,downstream_gene_variant,,ENST00000495007,;	1555	72	89	SUCCESS
LINC01124	440925	.	GRCh37	2	171570035	171570035	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	16	42	0	ENST00000409786.1:c.*106C>T			ENST00000409786				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCGCGCCC	NONE	.	.	.	.	.	ENSP00000387118	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000409786	Transcript	.	.	ENSG00000222033	49270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LINC01124	HGNC	E9PB92_HUMAN	.	UPI0000419095	SNV	LINC01124,3_prime_UTR_variant,,ENST00000409786,;SP5,upstream_gene_variant,,ENST00000375281,;SP5,upstream_gene_variant,,ENST00000487037,;	1043	42	59	SUCCESS
AC079354.1	0	.	GRCh37	2	203019452	203019452	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	6	122	0	ENST00000541917.1:c.*147T>C			ENST00000541917				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AGTTGTATAAA	NONE	.	.	.	.	.	ENSP00000437957	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000541917	Transcript	.	.	ENSG00000182329	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC079354.1	Clone_based_vega_gene	F5H626_HUMAN	.	UPI00020659C3	SNV	AC079354.1,synonymous_variant,p.%3D,ENST00000498697,;AC079354.1,3_prime_UTR_variant,,ENST00000295844,;AC079354.1,3_prime_UTR_variant,,ENST00000541917,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000409515,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000469462,;	2530	122	121	SUCCESS
GEMIN6	79833	.	GRCh37	2	39009103	39009103	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	24	0	ENST00000281950.3:c.*69G>T			ENST00000281950	NM_024775.9			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1799.1	.	MUTECT|MUSE	.	TAAATGTAAAT	NONE	.	.	.	.	.	ENSP00000281950	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000281950	Transcript	.	.	ENSG00000152147	20044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GEMI6_HUMAN	GEMIN6	HGNC	.	.	UPI000006E325	SNV	GEMIN6,3_prime_UTR_variant,,ENST00000281950,;GEMIN6,3_prime_UTR_variant,,ENST00000409011,;GEMIN6,downstream_gene_variant,,ENST00000409566,;	689	24	33	SUCCESS
RNU1-20P	100873816	.	GRCh37	3	192444996	192444996	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs776716518	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	26	77	0				ENST00000363314				0	.	.	.	.	.	A	.	snRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTCGAGTGC	NONE	byFrequency	2348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776716518	.	PASS	ENST00000363314	Transcript	.	.	ENSG00000200184	41946	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU1-20P	HGNC	.	.	.	SNV	FGF12,5_prime_UTR_variant,,ENST00000418610,;FGF12,5_prime_UTR_variant,,ENST00000450716,;FGF12,5_prime_UTR_variant,,ENST00000445105,;FGF12,5_prime_UTR_variant,,ENST00000430714,;FGF12,intron_variant,,ENST00000448795,;FGF12,upstream_gene_variant,,ENST00000264730,;RNU1-20P,downstream_gene_variant,,ENST00000363314,;FGF12,non_coding_transcript_exon_variant,,ENST00000466144,;FGF12,non_coding_transcript_exon_variant,,ENST00000491636,;	.	77	85	SUCCESS
NIPAL1	152519	.	GRCh37	4	48038198	48038198	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	64	0	ENST00000295461.5:c.*9G>T			ENST00000295461	NM_207330.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3479.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTAGAAACA	NONE	.	.	.	.	.	ENSP00000295461	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295461	Transcript	.	.	ENSG00000163293	27194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIPA3_HUMAN	NIPAL1	HGNC	.	.	UPI000013E25B	SNV	NIPAL1,3_prime_UTR_variant,,ENST00000295461,;NIPAL1,intron_variant,,ENST00000511123,;NIPAL1,downstream_gene_variant,,ENST00000508180,;NIPAL1,downstream_gene_variant,,ENST00000511852,;	1308	64	76	SUCCESS
TIGD2	166815	.	GRCh37	4	90035761	90035761	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	75	147	0	ENST00000317005.2:c.*58T>C			ENST00000317005	NM_145715.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3633.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACTTTGCTT	NONE	.	.	.	.	.	ENSP00000317170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000317005	Transcript	.	.	ENSG00000180346	18333	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIGD2_HUMAN	TIGD2	HGNC	.	.	UPI000013FF3C	SNV	TIGD2,3_prime_UTR_variant,,ENST00000317005,;RP11-84C13.2,upstream_gene_variant,,ENST00000603220,;RP11-84C13.1,downstream_gene_variant,,ENST00000603357,;FAM13A,upstream_gene_variant,,ENST00000502459,;	1794	147	169	SUCCESS
HTR4	3360	.	GRCh37	5	147862637	147862637	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	56	0	ENST00000377888.3:c.*129C>A			ENST00000377888	NM_000870.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34272.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCGGGTTCC	NONE	.	.	.	.	.	ENSP00000353915	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000360693	Transcript	.	.	ENSG00000164270	5299	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT4R_HUMAN	HTR4	HGNC	.	.	UPI00002323B1	SNV	HTR4,3_prime_UTR_variant,,ENST00000362016,;HTR4,3_prime_UTR_variant,,ENST00000360693,;HTR4,3_prime_UTR_variant,,ENST00000377888,;HTR4,intron_variant,,ENST00000521530,;HTR4,intron_variant,,ENST00000520514,;HTR4,intron_variant,,ENST00000517929,;HTR4,intron_variant,,ENST00000354217,;HTR4,intron_variant,,ENST00000314512,;HTR4,intron_variant,,ENST00000521735,;HTR4,3_prime_UTR_variant,,ENST00000524063,;HTR4,intron_variant,,ENST00000522588,;	1555	56	51	SUCCESS
TBXAS1	6916	.	GRCh37	7	139719976	139719976	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	13	0	ENST00000336425.5:c.*77G>A			ENST00000336425				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55174.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTTGGAAAAA	NONE	.	.	.	.	.	ENSP00000389414	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000416849	Transcript	.	.	ENSG00000059377	11609	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	TBXAS1	HGNC	F8WD37_HUMAN,E7EP08_HUMAN,C9JS68_HUMAN,C9J8N6_HUMAN	.	UPI0001AE7134	SNV	TBXAS1,3_prime_UTR_variant,,ENST00000436047,;TBXAS1,3_prime_UTR_variant,,ENST00000414508,;TBXAS1,3_prime_UTR_variant,,ENST00000411653,;TBXAS1,3_prime_UTR_variant,,ENST00000458722,;TBXAS1,3_prime_UTR_variant,,ENST00000425687,;TBXAS1,3_prime_UTR_variant,,ENST00000448866,;TBXAS1,3_prime_UTR_variant,,ENST00000263552,;TBXAS1,3_prime_UTR_variant,,ENST00000336425,;TBXAS1,3_prime_UTR_variant,,ENST00000416849,;PARP12,downstream_gene_variant,,ENST00000489809,;PARP12,downstream_gene_variant,,ENST00000263549,;TBXAS1,downstream_gene_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,;PARP12,downstream_gene_variant,,ENST00000473341,;PARP12,downstream_gene_variant,,ENST00000491598,;PARP12,downstream_gene_variant,,ENST00000488726,;	2055	13	17	SUCCESS
TBXAS1	6916	.	GRCh37	7	139719977	139719977	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-A73F-01	TCGA-DD-A73F-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	13	0	ENST00000336425.5:c.*78A>T			ENST00000336425				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55174.1	.	MUTECT|MUSE|VARSCANS	.	TTTGGAAAAAT	NONE	.	.	.	.	.	ENSP00000389414	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000416849	Transcript	.	.	ENSG00000059377	11609	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	TBXAS1	HGNC	F8WD37_HUMAN,E7EP08_HUMAN,C9JS68_HUMAN,C9J8N6_HUMAN	.	UPI0001AE7134	SNV	TBXAS1,3_prime_UTR_variant,,ENST00000436047,;TBXAS1,3_prime_UTR_variant,,ENST00000414508,;TBXAS1,3_prime_UTR_variant,,ENST00000411653,;TBXAS1,3_prime_UTR_variant,,ENST00000458722,;TBXAS1,3_prime_UTR_variant,,ENST00000425687,;TBXAS1,3_prime_UTR_variant,,ENST00000448866,;TBXAS1,3_prime_UTR_variant,,ENST00000263552,;TBXAS1,3_prime_UTR_variant,,ENST00000336425,;TBXAS1,3_prime_UTR_variant,,ENST00000416849,;PARP12,downstream_gene_variant,,ENST00000489809,;PARP12,downstream_gene_variant,,ENST00000263549,;TBXAS1,downstream_gene_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,;PARP12,downstream_gene_variant,,ENST00000473341,;PARP12,downstream_gene_variant,,ENST00000491598,;PARP12,downstream_gene_variant,,ENST00000488726,;	2056	13	17	SUCCESS
MUC19	283463	.	GRCh37	12	40951317	40951317	+	splice_region_variant,3_prime_UTR_variant	Splice_Region	SNP	C	C	G	rs1471452044	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	18	65	0	ENST00000454784.4:c.*6875C>G			ENST00000454784				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAACAGGTA	NONE	.	.	.	.	.	ENSP00000476404	.	70/84	.	.	.	.	.	.	.	.	.	70/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,missense_variant,p.Thr51Arg,ENST00000542482,;MUC19,splice_region_variant,,ENST00000454784,;RNU6-713P,upstream_gene_variant,,ENST00000384761,;MUC19,splice_region_variant,,ENST00000460785,;MUC19,upstream_gene_variant,,ENST00000484665,;MUC19,missense_variant,p.Thr366Arg,ENST00000380816,;	18501	65	88	SUCCESS
ZFP36L1	677	.	GRCh37	14	69262491	69262491	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs758484936	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	26	114	1				ENST00000336440				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9791.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTAAATT	NONE	.	2534	.	.	.	ENSP00000388402	.	.	.	.	.	.	.	.	.	.	rs758484936	.	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	SNV	ZFP36L1,3_prime_UTR_variant,,ENST00000408913,;ZFP36L1,intron_variant,,ENST00000557022,;ZFP36L1,intron_variant,,ENST00000553375,;ZFP36L1,intron_variant,,ENST00000557086,;ZFP36L1,upstream_gene_variant,,ENST00000336440,;ZFP36L1,upstream_gene_variant,,ENST00000439696,;ZFP36L1,upstream_gene_variant,,ENST00000555997,;	.	115	106	SUCCESS
CTXN2	399697	.	GRCh37	15	48495286	48495286	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	24	124	0	ENST00000417307.2:c.*1543A>C			ENST00000417307	NM_001145668.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45254.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTAAGAGA	NONE	.	.	.	.	.	ENSP00000406145	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417307	Transcript	.	.	ENSG00000233932	31109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTXN2_HUMAN	CTXN2	HGNC	.	.	UPI00005A8DAF	SNV	CTXN2,3_prime_UTR_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000330289,;SLC12A1,upstream_gene_variant,,ENST00000380993,;CTXN2,downstream_gene_variant,,ENST00000541248,;SLC12A1,upstream_gene_variant,,ENST00000396577,;SLC12A1,upstream_gene_variant,,ENST00000558405,;SLC12A1,upstream_gene_variant,,ENST00000561031,;RP11-605F22.1,upstream_gene_variant,,ENST00000559875,;SLC12A1,intron_variant,,ENST00000561127,;	2161	124	115	SUCCESS
CCL2	6347	.	GRCh37	17	32583924	32583924	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	54	0	ENST00000225831.4:c.*78T>C			ENST00000225831	NM_002982.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11277.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATTATAA	NONE	.	.	.	.	.	ENSP00000225831	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000225831	Transcript	.	.	ENSG00000108691	10618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCL2_HUMAN	CCL2	HGNC	Q6UZ82_HUMAN	.	UPI0000000DC9	SNV	CCL2,3_prime_UTR_variant,,ENST00000225831,;AC005549.3,upstream_gene_variant,,ENST00000601918,;CCL2,downstream_gene_variant,,ENST00000580907,;CCL2,non_coding_transcript_exon_variant,,ENST00000582017,;	443	54	36	SUCCESS
C2orf88	84281	.	GRCh37	2	191067986	191067986	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	5	154	0	ENST00000340623.4:c.*3112C>T			ENST00000340623	NM_001042519.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42792.1	.	MUTECT|MUSE	.	AATCACAATGC	NONE	.	.	.	.	.	ENSP00000345107	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340623	Transcript	.	.	ENSG00000187699	28191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMAKA_HUMAN	C2orf88	HGNC	H7BZ15_HUMAN,C9JS57_HUMAN	.	UPI000013D122	SNV	C2orf88,3_prime_UTR_variant,,ENST00000340623,;HIBCH,intron_variant,,ENST00000399855,;HIBCH,downstream_gene_variant,,ENST00000359678,;C2orf88,downstream_gene_variant,,ENST00000409870,;HIBCH,downstream_gene_variant,,ENST00000392332,;C2orf88,downstream_gene_variant,,ENST00000443551,;C2orf88,downstream_gene_variant,,ENST00000450357,;C2orf88,downstream_gene_variant,,ENST00000409545,;HIBCH,downstream_gene_variant,,ENST00000410045,;C2orf88,downstream_gene_variant,,ENST00000396974,;HIBCH,downstream_gene_variant,,ENST00000486981,;C2orf88,downstream_gene_variant,,ENST00000490033,;	3811	154	134	SUCCESS
LMAN2L	81562	.	GRCh37	2	97370374	97370374	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	24	142	0				ENST00000264963	NM_030805.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46365.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGGACCCA	NONE	.	1703	.	.	.	ENSP00000366280	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377079	Transcript	.	.	ENSG00000114988	19263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMA2L_HUMAN	LMAN2L	HGNC	B4DI83_HUMAN	.	UPI000044099B	SNV	LMAN2L,downstream_gene_variant,,ENST00000426463,;LMAN2L,downstream_gene_variant,,ENST00000377079,;LMAN2L,downstream_gene_variant,,ENST00000537039,;LMAN2L,downstream_gene_variant,,ENST00000264963,;LMAN2L,downstream_gene_variant,,ENST00000534882,;FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;LMAN2L,downstream_gene_variant,,ENST00000440610,;LMAN2L,downstream_gene_variant,,ENST00000474494,;LMAN2L,downstream_gene_variant,,ENST00000449221,;LMAN2L,downstream_gene_variant,,ENST00000434524,;LMAN2L,downstream_gene_variant,,ENST00000434865,;LMAN2L,downstream_gene_variant,,ENST00000446780,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000397978,;	.	142	122	SUCCESS
CPLX1	10815	.	GRCh37	4	780250	780250	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1156965243	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	37	0	ENST00000304062.6:c.*39T>C			ENST00000304062	NM_006651.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46995.1	.	MUTECT|MUSE	.	GGGGGAGGGGC	NONE	.	.	.	.	.	ENSP00000305613	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000304062	Transcript	.	.	ENSG00000168993	2309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPLX1_HUMAN	CPLX1	HGNC	F1T0G1_HUMAN,D6RAG3_HUMAN	.	UPI0000127BB3	SNV	CPLX1,3_prime_UTR_variant,,ENST00000304062,;CPLX1,3_prime_UTR_variant,,ENST00000505203,;CPLX1,downstream_gene_variant,,ENST00000504062,;RP11-440L14.1,upstream_gene_variant,,ENST00000503185,;RP11-440L14.1,upstream_gene_variant,,ENST00000503571,;RP11-440L14.1,upstream_gene_variant,,ENST00000503405,;RP11-440L14.1,upstream_gene_variant,,ENST00000507446,;CPLX1,non_coding_transcript_exon_variant,,ENST00000506404,;	676	37	56	SUCCESS
CTXN3	613212	.	GRCh37	5	126993773	126993773	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	9	63	0	ENST00000379445.3:c.*314C>G			ENST00000379445	NM_001048252.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34221.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCACCTGAT	NONE	.	.	.	.	.	ENSP00000368758	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379445	Transcript	.	.	ENSG00000205279	31110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTXN3_HUMAN	CTXN3	HGNC	.	.	UPI000003ED31	SNV	CTXN3,3_prime_UTR_variant,,ENST00000379445,;CTXN3,3_prime_UTR_variant,,ENST00000395322,;CTC-548H10.2,intron_variant,,ENST00000512352,;CTXN3,downstream_gene_variant,,ENST00000514851,;	1111	63	60	SUCCESS
APOM	55937	.	GRCh37	6	31625962	31625962	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	62	0	ENST00000375916.3:c.*96T>G			ENST00000375916	NM_019101.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4710.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAGATAATAA	NONE	.	.	.	.	.	ENSP00000365081	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000375916	Transcript	.	.	ENSG00000204444	13916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	APOM_HUMAN	APOM	HGNC	.	.	UPI00000369DE	SNV	APOM,3_prime_UTR_variant,,ENST00000375920,;APOM,3_prime_UTR_variant,,ENST00000375916,;GPANK1,downstream_gene_variant,,ENST00000375906,;APOM,downstream_gene_variant,,ENST00000375918,;GPANK1,downstream_gene_variant,,ENST00000375900,;GPANK1,downstream_gene_variant,,ENST00000375895,;C6orf47,downstream_gene_variant,,ENST00000375911,;GPANK1,downstream_gene_variant,,ENST00000375896,;GPANK1,downstream_gene_variant,,ENST00000375893,;C6orf47-AS1,upstream_gene_variant,,ENST00000422049,;	1159	62	90	SUCCESS
HMGA1	3159	.	GRCh37	6	34213350	34213350	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs747796445	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	32	0	ENST00000311487.5:c.*689C>T			ENST00000311487	NM_145899.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4789.1	.	MUTECT|MUSE	.	CACAGCCCCCT	NONE	byFrequency	.	.	.	.	ENSP00000399888	.	5/5	.	.	.	.	.	.	.	.	rs747796445	5/5	PASS	ENST00000447654	Transcript	.	.	ENSG00000137309	5010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMGA1_HUMAN	HMGA1	HGNC	.	.	UPI0000000C96	SNV	HMGA1,synonymous_variant,p.%3D,ENST00000395004,;HMGA1,3_prime_UTR_variant,,ENST00000347617,;HMGA1,3_prime_UTR_variant,,ENST00000401473,;HMGA1,3_prime_UTR_variant,,ENST00000311487,;HMGA1,3_prime_UTR_variant,,ENST00000374116,;HMGA1,3_prime_UTR_variant,,ENST00000447654,;C6orf1,downstream_gene_variant,,ENST00000413013,;C6orf1,downstream_gene_variant,,ENST00000481533,;C6orf1,downstream_gene_variant,,ENST00000335352,;C6orf1,downstream_gene_variant,,ENST00000476320,;C6orf1,downstream_gene_variant,,ENST00000468145,;C6orf1,downstream_gene_variant,,ENST00000394990,;HMGA1,downstream_gene_variant,,ENST00000478214,;C6orf1,downstream_gene_variant,,ENST00000463083,;C6orf1,downstream_gene_variant,,ENST00000495581,;	1502	32	31	SUCCESS
TPM2	7169	.	GRCh37	9	35682880	35682880	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs1028322461	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	83	0				ENST00000360958	NM_003289.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6586.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGTGGTG	NONE	.	.	.	.	.	ENSP00000367542	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000378292	Transcript	.	.	ENSG00000198467	12011	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPM2_HUMAN	TPM2	HGNC	.	.	UPI000002B5B5	SNV	TPM2,missense_variant,p.Thr265Met,ENST00000378300,;TPM2,intron_variant,,ENST00000378292,;TPM2,intron_variant,,ENST00000329305,;TPM2,downstream_gene_variant,,ENST00000360958,;CA9,downstream_gene_variant,,ENST00000378357,;TPM2,downstream_gene_variant,,ENST00000607559,;CA9,downstream_gene_variant,,ENST00000493245,;CA9,downstream_gene_variant,,ENST00000485665,;TPM2,downstream_gene_variant,,ENST00000486018,;TPM2,downstream_gene_variant,,ENST00000604975,;TPM2,downstream_gene_variant,,ENST00000471212,;	.	83	80	SUCCESS
ZNF280C	55609	.	GRCh37	X	129338887	129338887	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-A73G-01	TCGA-DD-A73G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	23	105	0	ENST00000370978.4:c.*64G>T			ENST00000370978	NM_017666.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14622.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAACTTTGA	NONE	.	.	.	.	.	ENSP00000360017	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000370978	Transcript	.	.	ENSG00000056277	25955	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	Z280C_HUMAN	ZNF280C	HGNC	.	.	UPI0000071981	SNV	ZNF280C,3_prime_UTR_variant,,ENST00000370978,;	2432	105	87	SUCCESS
PDPK1	5170	.	GRCh37	16	2653605	2653605	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	9	0				ENST00000342085	NM_002613.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10472.1	.	MUTECT|MUSE	.	TCCAAGTGGGT	NONE	.	416	.	.	.	ENSP00000344220	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000342085	Transcript	.	.	ENSG00000140992	8816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDPK1_HUMAN	PDPK1	HGNC	Q9UPJ8_HUMAN,Q9UPJ7_HUMAN,H3BQ10_HUMAN,E9PER6_HUMAN	.	UPI00001314D4	SNV	PDPK1,downstream_gene_variant,,ENST00000342085,;PDPK1,downstream_gene_variant,,ENST00000268673,;CTD-3126B10.1,upstream_gene_variant,,ENST00000562166,;AC141586.5,non_coding_transcript_exon_variant,,ENST00000399702,;AC141586.5,non_coding_transcript_exon_variant,,ENST00000566272,;PDPK1,downstream_gene_variant,,ENST00000569721,;PDPK1,downstream_gene_variant,,ENST00000561962,;AC141586.5,non_coding_transcript_exon_variant,,ENST00000567242,;	.	9	15	SUCCESS
SLC38A7	55238	.	GRCh37	16	58701205	58701205	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs755459159	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	22	0	ENST00000219320.4:c.*84C>T			ENST00000219320	NM_018231.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10800.1	.	MUTECT|MUSE	.	TGATCGTGGAC	NONE	.	.	.	.	.	ENSP00000454646	.	11/11	.	.	.	.	.	.	.	.	rs755459159	11/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,3_prime_UTR_variant,,ENST00000219320,;SLC38A7,3_prime_UTR_variant,,ENST00000564100,;SLC38A7,3_prime_UTR_variant,,ENST00000570101,;SLC38A7,downstream_gene_variant,,ENST00000564010,;SLC38A7,downstream_gene_variant,,ENST00000566953,;SLC38A7,3_prime_UTR_variant,,ENST00000566598,;SLC38A7,downstream_gene_variant,,ENST00000562149,;SLC38A7,downstream_gene_variant,,ENST00000565785,;SLC38A7,downstream_gene_variant,,ENST00000569209,;	2357	22	30	SUCCESS
NBPF6	653149	.	GRCh37	1	109007837	109007837	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	166	225	0	ENST00000294652.8:c.*718G>A			ENST00000294652		484		0	.	.	.	.	.	A	G/E	protein_coding	YES	CCDS44184.1	1451	RADIA|MUSE	.	CCAAGGGACTT	NONE	.	.	hmmpanther:PTHR14199:SF13,hmmpanther:PTHR14199,PROSITE_profiles:PS51316	.	.	ENSP00000402703	.	13/15	.	.	.	.	.	.	.	.	.	13/15	PASS	ENST00000444143	Transcript	.	.	ENSG00000186086	31988	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.998)	.	tolerated(0.07)	.	NBPF6_HUMAN	NBPF6	HGNC	.	.	UPI0000160A67	SNV	NBPF6,missense_variant,p.Gly484Glu,ENST00000495380,;NBPF6,missense_variant,p.Gly484Glu,ENST00000444143,;NBPF6,missense_variant,p.Gly513Glu,ENST00000531446,;NBPF6,missense_variant,p.Gly513Glu,ENST00000370040,;NBPF6,3_prime_UTR_variant,,ENST00000294652,;	1669	225	279	SUCCESS
BCAP29	55973	.	GRCh37	7	107262341	107262341	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	206	7	156	0				ENST00000005259	NM_018844.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34730.1	.	MUTECT|MUSE	.	TACTGCTGCCA	NONE	.	.	.	.	.	ENSP00000368414	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000379119	Transcript	.	.	ENSG00000075790	24131	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAP29_HUMAN	BCAP29	HGNC	C9JTE9_HUMAN,C9JP06_HUMAN,C9JGJ9_HUMAN,C9IYK6_HUMAN	.	UPI000049A621	SNV	BCAP29,synonymous_variant,p.%3D,ENST00000491150,;BCAP29,3_prime_UTR_variant,,ENST00000379119,;BCAP29,downstream_gene_variant,,ENST00000445771,;BCAP29,downstream_gene_variant,,ENST00000005259,;BCAP29,downstream_gene_variant,,ENST00000379117,;BCAP29,downstream_gene_variant,,ENST00000465919,;BCAP29,downstream_gene_variant,,ENST00000494086,;BCAP29,intron_variant,,ENST00000482371,;	4352	156	213	SUCCESS
AGTR2	186	.	GRCh37	X	115305166	115305166	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	308	23	278	0	ENST00000371906.4:c.*541G>T			ENST00000371906	NM_000686.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14569.1	.	MUTECT|MUSE	.	GTGGAGGTTTA	NONE	.	.	.	.	.	ENSP00000360973	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371906	Transcript	.	.	ENSG00000180772	338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AGTR2_HUMAN	AGTR2	HGNC	Q6UVH2_HUMAN	.	UPI0000125687	SNV	AGTR2,3_prime_UTR_variant,,ENST00000371906,;	1823	278	331	SUCCESS
SLITRK2	84631	.	GRCh37	X	144909658	144909658	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-DD-AA3A-01	TCGA-DD-AA3A-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	274	16	276	0				ENST00000370490				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14681.1	.	MUTECT|MUSE	.	GCTAAGAGCCT	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	731	276	290	SUCCESS
C10orf90	118611	.	GRCh37	10	128114322	128114322	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	29	0	ENST00000284694.7:c.*111T>A			ENST00000284694	NM_001004298.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31310.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATCGAAAGTA	NONE	.	.	.	.	.	ENSP00000284694	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000284694	Transcript	.	.	ENSG00000154493	26563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CJ090_HUMAN	C10orf90	HGNC	S4R3N7_HUMAN,Q5T025_HUMAN	.	UPI00001D808F	SNV	C10orf90,3_prime_UTR_variant,,ENST00000284694,;C10orf90,3_prime_UTR_variant,,ENST00000454341,;C10orf90,3_prime_UTR_variant,,ENST00000480379,;C10orf90,3_prime_UTR_variant,,ENST00000544758,;C10orf90,3_prime_UTR_variant,,ENST00000424927,;C10orf90,downstream_gene_variant,,ENST00000432642,;C10orf90,downstream_gene_variant,,ENST00000356858,;LINC00601,upstream_gene_variant,,ENST00000456514,;	2332	29	26	SUCCESS
ZNF365	22891	.	GRCh37	10	64430137	64430137	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	12	35	0	ENST00000410046.3:c.*76T>A			ENST00000410046	NM_199451.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7264.1	.	MUTECT|MUSE	.	CCCTGTATCCA	NONE	.	.	.	.	.	ENSP00000387091	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000410046	Transcript	1	.	ENSG00000138311	18194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN365_HUMAN	ZNF365	HGNC	C9J1G1_HUMAN	.	UPI00002323B9	SNV	ZNF365,3_prime_UTR_variant,,ENST00000395251,;ZNF365,3_prime_UTR_variant,,ENST00000410046,;ZNF365,downstream_gene_variant,,ENST00000395249,;ZNF365,downstream_gene_variant,,ENST00000344640,;ZNF365,downstream_gene_variant,,ENST00000373784,;	1745	35	29	SUCCESS
FAM213A	0	.	GRCh37	10	82192005	82192005	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	12	0	ENST00000372181.1:c.*150A>T			ENST00000372181	NM_001243782.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7368.1	.	RADIA|MUTECT|MUSE	.	TGTTTAGGCCC	NONE	.	.	.	.	.	ENSP00000361254	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372181	Transcript	.	.	ENSG00000122378	28651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F213A_HUMAN	FAM213A	HGNC	.	.	UPI0000049E00	SNV	FAM213A,3_prime_UTR_variant,,ENST00000372181,;FAM213A,3_prime_UTR_variant,,ENST00000372185,;FAM213A,3_prime_UTR_variant,,ENST00000372187,;FAM213A,downstream_gene_variant,,ENST00000372188,;RP11-137H2.6,upstream_gene_variant,,ENST00000606162,;	1310	12	11	SUCCESS
CHRNA10	57053	.	GRCh37	11	3687335	3687335	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs753818191	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	21	64	0	ENST00000250699.2:c.*2G>T			ENST00000250699	NM_020402.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCCTCAC	NONE	.	.	.	.	.	ENSP00000250699	.	5/5	.	.	.	.	.	.	.	.	rs753818191	5/5	PASS	ENST00000250699	Transcript	.	.	ENSG00000129749	13800	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACH10_HUMAN	CHRNA10	HGNC	.	.	UPI0000038CF1	SNV	CHRNA10,3_prime_UTR_variant,,ENST00000534359,;CHRNA10,3_prime_UTR_variant,,ENST00000250699,;NUP98,downstream_gene_variant,,ENST00000533346,;ART1,downstream_gene_variant,,ENST00000250693,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	1427	64	72	SUCCESS
DGKZ	8525	.	GRCh37	11	46401716	46401716	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs944962150	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	19	0	ENST00000454345.1:c.*219G>A			ENST00000454345	NM_001105540.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41640.1	.	MUTECT|MUSE	.	CGGAGGCTCAC	NONE	.	.	.	.	.	ENSP00000412178	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000454345	Transcript	.	.	ENSG00000149091	2857	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DGKZ_HUMAN	DGKZ	HGNC	Q7Z5X8_HUMAN,E9PNL8_HUMAN	.	UPI000013DB71	SNV	DGKZ,3_prime_UTR_variant,,ENST00000527911,;DGKZ,3_prime_UTR_variant,,ENST00000456247,;DGKZ,3_prime_UTR_variant,,ENST00000543978,;DGKZ,3_prime_UTR_variant,,ENST00000343674,;DGKZ,3_prime_UTR_variant,,ENST00000454345,;DGKZ,3_prime_UTR_variant,,ENST00000318201,;DGKZ,3_prime_UTR_variant,,ENST00000395574,;MDK,upstream_gene_variant,,ENST00000395565,;MDK,upstream_gene_variant,,ENST00000359803,;DGKZ,downstream_gene_variant,,ENST00000421244,;DGKZ,downstream_gene_variant,,ENST00000524869,;MDK,upstream_gene_variant,,ENST00000533952,;MDK,upstream_gene_variant,,ENST00000441869,;MDK,upstream_gene_variant,,ENST00000395566,;MDK,upstream_gene_variant,,ENST00000395569,;CHRM4,downstream_gene_variant,,ENST00000433765,;MDK,upstream_gene_variant,,ENST00000407067,;MDK,upstream_gene_variant,,ENST00000405308,;DGKZ,downstream_gene_variant,,ENST00000528615,;DGKZ,downstream_gene_variant,,ENST00000532868,;MIR4688,downstream_gene_variant,,ENST00000577966,;DGKZ,downstream_gene_variant,,ENST00000529660,;MDK,upstream_gene_variant,,ENST00000533283,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,non_coding_transcript_exon_variant,,ENST00000534802,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,non_coding_transcript_exon_variant,,ENST00000527211,;DGKZ,downstream_gene_variant,,ENST00000532941,;MDK,upstream_gene_variant,,ENST00000481047,;DGKZ,downstream_gene_variant,,ENST00000531879,;DGKZ,downstream_gene_variant,,ENST00000529698,;MDK,upstream_gene_variant,,ENST00000489525,;MDK,upstream_gene_variant,,ENST00000490240,;	3698	19	21	SUCCESS
HBD	3045	.	GRCh37	11	5253966	5253966	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs764058749	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	24	99	0				ENST00000380299	NM_000519.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31376.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATGTACTC	NONE	.	102	.	.	.	ENSP00000369654	.	.	.	.	.	.	.	.	.	.	rs764058749	.	PASS	ENST00000380299	Transcript	.	.	ENSG00000223609	4829	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HBD_HUMAN	HBD	HGNC	A0N071_HUMAN,Q5XTR9_HUMAN,E9PEW8_HUMAN,D1MGQ0_HUMAN,D1MGP8_HUMAN	.	UPI0000161DC2	SNV	HBD,stop_gained,p.Tyr126Ter,ENST00000292901,;HBD,downstream_gene_variant,,ENST00000380299,;HBD,downstream_gene_variant,,ENST00000429817,;HBB,upstream_gene_variant,,ENST00000380315,;HBD,downstream_gene_variant,,ENST00000417377,;	.	99	81	SUCCESS
KLRC2	3822	.	GRCh37	12	10583625	10583625	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	49	166	0	ENST00000381902.2:c.*91A>T			ENST00000381902	NM_002260.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACATAATTC	NONE	.	.	.	.	.	ENSP00000371327	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381902	Transcript	.	.	ENSG00000205809	6375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKG2C_HUMAN	KLRC2	HGNC	.	.	UPI0000140823	SNV	KLRC2,3_prime_UTR_variant,,ENST00000537017,;KLRC2,3_prime_UTR_variant,,ENST00000381902,;KLRC2,3_prime_UTR_variant,,ENST00000536833,;KLRC2,3_prime_UTR_variant,,ENST00000381901,;NKG2-E,intron_variant,,ENST00000539033,;KLRC2,intron_variant,,ENST00000535069,;	794	166	160	SUCCESS
NEUROD4	58158	.	GRCh37	12	55422442	55422442	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1418164642	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	37	214	0	ENST00000242994.3:c.*1223C>T			ENST00000242994	NM_021191.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8886.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCCTACA	NONE	.	.	.	.	.	ENSP00000242994	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000242994	Transcript	.	.	ENSG00000123307	13802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDF4_HUMAN	NEUROD4	HGNC	Q8IW56_HUMAN	.	UPI000013CB1E	SNV	NEUROD4,3_prime_UTR_variant,,ENST00000242994,;	2597	214	174	SUCCESS
RAB5B	5869	.	GRCh37	12	56386095	56386095	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1193452713	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	47	0	ENST00000360299.5:c.*99A>T			ENST00000360299	NM_002868.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8900.1	.	MUTECT|MUSE	.	AGCACACTGAG	NONE	.	.	.	.	.	ENSP00000353444	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000360299	Transcript	.	.	ENSG00000111540	9784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB5B_HUMAN	RAB5B	HGNC	F8VVZ0_HUMAN,F8VUA5_HUMAN	.	UPI000000125D	SNV	RAB5B,3_prime_UTR_variant,,ENST00000448789,;RAB5B,3_prime_UTR_variant,,ENST00000553116,;RAB5B,3_prime_UTR_variant,,ENST00000360299,;SUOX,upstream_gene_variant,,ENST00000394115,;SUOX,upstream_gene_variant,,ENST00000356124,;RAB5B,downstream_gene_variant,,ENST00000551459,;SUOX,upstream_gene_variant,,ENST00000552258,;SUOX,upstream_gene_variant,,ENST00000548274,;SUOX,upstream_gene_variant,,ENST00000266971,;RAB5B,downstream_gene_variant,,ENST00000548068,;SUOX,upstream_gene_variant,,ENST00000547586,;SUOX,upstream_gene_variant,,ENST00000550121,;SUOX,upstream_gene_variant,,ENST00000551698,;SUOX,upstream_gene_variant,,ENST00000552363,;SUOX,upstream_gene_variant,,ENST00000550340,;RAB5B,3_prime_UTR_variant,,ENST00000549505,;RAB5B,downstream_gene_variant,,ENST00000550283,;RAB5B,downstream_gene_variant,,ENST00000546810,;RAB5B,downstream_gene_variant,,ENST00000549034,;AC034102.1,non_coding_transcript_exon_variant,,ENST00000541217,;	968	47	32	SUCCESS
AGAP2-AS1	100130776	.	GRCh37	12	58122003	58122003	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	39	77	0	ENST00000542466.2:c.*421G>A			ENST00000542466				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGGGGGCA	NONE	.	.	.	.	.	ENSP00000437523	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000542466	Transcript	.	.	ENSG00000255737	48633	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AGAP2-AS1	HGNC	B7Z718_HUMAN	.	UPI000021D228	SNV	AGAP2-AS1,3_prime_UTR_variant,,ENST00000542466,;AGAP2,intron_variant,,ENST00000257897,;AGAP2,intron_variant,,ENST00000328568,;AGAP2,intron_variant,,ENST00000547588,;AGAP2,downstream_gene_variant,,ENST00000549129,;RP11-571M6.8,upstream_gene_variant,,ENST00000548410,;RP11-571M6.8,upstream_gene_variant,,ENST00000602413,;	1364	77	65	SUCCESS
GDF3	9573	.	GRCh37	12	7842444	7842444	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	28	0	ENST00000329913.3:c.*30T>A			ENST00000329913	NM_020634.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8581.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGAACACT	NONE	.	.	.	.	.	ENSP00000331745	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329913	Transcript	.	.	ENSG00000184344	4218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF3_HUMAN	GDF3	HGNC	.	.	UPI0000049E0E	SNV	GDF3,3_prime_UTR_variant,,ENST00000329913,;	1173	28	27	SUCCESS
SOX1	6656	.	GRCh37	13	112723899	112723899	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	42	176	1	ENST00000330949.1:c.*751C>A			ENST00000330949	NM_005986.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9523.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGACCCCCCA	NONE	.	.	.	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330949	Transcript	.	.	ENSG00000182968	11189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,3_prime_UTR_variant,,ENST00000330949,;	1987	177	162	SUCCESS
FLRT2	23768	.	GRCh37	14	86093054	86093054	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	81	0	ENST00000330753.4:c.*3213T>A			ENST00000330753	NM_013231.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9877.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTGTGTAAC	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,downstream_gene_variant,,ENST00000553650,;	5963	81	56	SUCCESS
NPAP1	23742	.	GRCh37	15	24926751	24926751	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	31	114	0	ENST00000329468.2:c.*2266A>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGTATACCA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6211	114	78	SUCCESS
C15orf54	400360	.	GRCh37	15	39546938	39546938	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1003147020	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	54	144	0	ENST00000318578.3:c.*2050A>T			ENST00000318578	NM_207445.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10049.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTAGCCTG	NONE	.	.	.	.	.	ENSP00000323686	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318578	Transcript	.	.	ENSG00000175746	33797	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO054_HUMAN	C15orf54	HGNC	.	.	UPI00000717BB	SNV	C15orf54,3_prime_UTR_variant,,ENST00000318578,;C15orf54,downstream_gene_variant,,ENST00000561223,;RP11-624L4.1,intron_variant,,ENST00000561058,;RP11-624L4.1,intron_variant,,ENST00000558209,;RP11-624L4.1,intron_variant,,ENST00000560484,;	2970	145	121	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79588585	79588585	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	72	0	ENST00000421388.2:c.*1351G>T			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53965.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTTGAGGAG	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	3428	72	40	SUCCESS
EMC6	83460	.	GRCh37	17	3572829	3572829	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	118	0	ENST00000248378.5:c.*56A>T			ENST00000248378	NM_031298.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCAATTAA	NONE	.	.	.	.	.	ENSP00000380322	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397133	Transcript	.	.	ENSG00000127774	28430	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC6_HUMAN	EMC6	HGNC	.	.	UPI00000212D2	SNV	EMC6,3_prime_UTR_variant,,ENST00000397133,;EMC6,3_prime_UTR_variant,,ENST00000248378,;P2RX5,downstream_gene_variant,,ENST00000435558,;P2RX5,downstream_gene_variant,,ENST00000552050,;P2RX5,downstream_gene_variant,,ENST00000552276,;P2RX5,downstream_gene_variant,,ENST00000551178,;TAX1BP3,upstream_gene_variant,,ENST00000225525,;P2RX5,downstream_gene_variant,,ENST00000547178,;P2RX5,downstream_gene_variant,,ENST00000345901,;P2RX5,downstream_gene_variant,,ENST00000225328,;P2RX5-TAX1BP3,3_prime_UTR_variant,,ENST00000550383,;P2RX5,downstream_gene_variant,,ENST00000549063,;P2RX5,downstream_gene_variant,,ENST00000552456,;RP11-48B14.1,downstream_gene_variant,,ENST00000486753,;	629	118	109	SUCCESS
KRT25	147183	.	GRCh37	17	38904444	38904444	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	31	0	ENST00000312150.4:c.*85A>T			ENST00000312150	NM_181534.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11373.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTAGACA	NONE	.	.	.	.	.	ENSP00000310573	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000312150	Transcript	.	.	ENSG00000204897	30839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C25_HUMAN	KRT25	HGNC	.	.	UPI000019B3C3	SNV	KRT25,3_prime_UTR_variant,,ENST00000312150,;	1499	31	32	SUCCESS
KRTAP4-7	100132476	.	GRCh37	17	39240953	39240953	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	146	31	158	0	ENST00000391417.4:c.*27T>A			ENST00000391417	NM_033061.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45673.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCTTCACC	NONE	.	.	.	.	.	ENSP00000375236	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391417	Transcript	.	.	ENSG00000240871	18898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA47_HUMAN	KRTAP4-7	HGNC	.	.	UPI00001B0238	SNV	KRTAP4-7,3_prime_UTR_variant,,ENST00000391417,;	495	158	177	SUCCESS
KRTAP9-4	85280	.	GRCh37	17	39406556	39406556	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1319589084	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	150	72	217	0	ENST00000334109.2:c.*119G>T			ENST00000334109	NM_033191.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11386.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATGAATTC	NONE	.	.	.	.	.	ENSP00000334922	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334109	Transcript	.	.	ENSG00000241595	18902	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA94_HUMAN	KRTAP9-4	HGNC	.	.	UPI000013F6DA	SNV	KRTAP9-4,3_prime_UTR_variant,,ENST00000334109,;	618	218	222	SUCCESS
RAMP2	10266	.	GRCh37	17	40915025	40915025	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	23	0	ENST00000253796.5:c.*155T>A			ENST00000253796	NM_005854.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11437.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCTGTAAT	NONE	.	.	.	.	.	ENSP00000253796	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000253796	Transcript	.	.	ENSG00000131477	9844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAMP2_HUMAN	RAMP2	HGNC	K7EPN3_HUMAN,K7ENJ8_HUMAN	.	UPI0000134301	SNV	RAMP2,3_prime_UTR_variant,,ENST00000253796,;RAMP2,3_prime_UTR_variant,,ENST00000589683,;RAMP2,downstream_gene_variant,,ENST00000587142,;RAMP2,downstream_gene_variant,,ENST00000588576,;RAMP2,downstream_gene_variant,,ENST00000588928,;RAMP2-AS1,upstream_gene_variant,,ENST00000592195,;RAMP2-AS1,upstream_gene_variant,,ENST00000360166,;RAMP2-AS1,upstream_gene_variant,,ENST00000591082,;RAMP2-AS1,upstream_gene_variant,,ENST00000592670,;RAMP2-AS1,upstream_gene_variant,,ENST00000587694,;RAMP2-AS1,upstream_gene_variant,,ENST00000589716,;RAMP2,downstream_gene_variant,,ENST00000591972,;	751	23	15	SUCCESS
NME1	4830	.	GRCh37	17	49239295	49239295	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	27	0	ENST00000393196.3:c.*89A>T			ENST00000393196	NM_000269.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11578.1	.	MUTECT|MUSE	.	TTTACAGGAAC	NONE	.	.	.	.	.	ENSP00000337060	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000336097	Transcript	.	.	ENSG00000239672	7849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDKA_HUMAN	NME1	HGNC	E7ERL0_HUMAN,C9K028_HUMAN	.	UPI000017DA4C	SNV	NME1,3_prime_UTR_variant,,ENST00000511355,;NME1,3_prime_UTR_variant,,ENST00000393196,;NME1,3_prime_UTR_variant,,ENST00000336097,;NME2,intron_variant,,ENST00000555572,;NME2,intron_variant,,ENST00000393193,;NME2,intron_variant,,ENST00000376392,;NME1-NME2,intron_variant,,ENST00000608447,;NME1-NME2,intron_variant,,ENST00000393198,;NME1-NME2,upstream_gene_variant,,ENST00000393183,;NME1-NME2,upstream_gene_variant,,ENST00000393185,;NME1-NME2,upstream_gene_variant,,ENST00000393190,;NME1,downstream_gene_variant,,ENST00000480143,;NME1-NME2,upstream_gene_variant,,ENST00000514264,;NME1,downstream_gene_variant,,ENST00000013034,;NME1-NME2,upstream_gene_variant,,ENST00000513177,;NME1-NME2,upstream_gene_variant,,ENST00000512737,;NME1-NME2,upstream_gene_variant,,ENST00000503064,;NME1,3_prime_UTR_variant,,ENST00000475573,;NME1-NME2,upstream_gene_variant,,ENST00000485076,;NME1,downstream_gene_variant,,ENST00000512768,;	859	27	27	SUCCESS
C17orf80	55028	.	GRCh37	17	71228508	71228508	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	37	0				ENST00000359042	NM_017941.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45766.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACCGACTGGT	NONE	.	.	.	.	.	ENSP00000384832	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000405159	Transcript	.	.	ENSG00000133193	25918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F104A_HUMAN	FAM104A	HGNC	J3KT35_HUMAN	.	UPI00005A9549	SNV	FAM104A,5_prime_UTR_variant,,ENST00000581110,;C17orf80,5_prime_UTR_variant,,ENST00000255557,;FAM104A,5_prime_UTR_variant,,ENST00000405159,;FAM104A,upstream_gene_variant,,ENST00000403627,;FAM104A,upstream_gene_variant,,ENST00000583024,;C17orf80,upstream_gene_variant,,ENST00000585109,;C17orf80,upstream_gene_variant,,ENST00000359042,;C17orf80,upstream_gene_variant,,ENST00000582793,;FAM104A,upstream_gene_variant,,ENST00000580032,;C17orf80,upstream_gene_variant,,ENST00000582391,;C17orf80,upstream_gene_variant,,ENST00000577615,;C17orf80,upstream_gene_variant,,ENST00000426147,;C17orf80,upstream_gene_variant,,ENST00000268942,;C17orf80,upstream_gene_variant,,ENST00000535032,;FAM104A,upstream_gene_variant,,ENST00000579872,;FAM104A,intron_variant,,ENST00000583178,;	3	37	35	SUCCESS
TP53	7157	.	GRCh37	17	7572740	7572740	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1347789628	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	17	0	ENST00000269305.4:c.*187G>A			ENST00000269305	NM_001126112.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11118.1	.	MUTECT|MUSE	.	TCCTCCCCACA	NONE	.	.	.	.	.	ENSP00000269305	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000269305	Transcript	.	.	ENSG00000141510	11998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P53_HUMAN	TP53	HGNC	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN	.	UPI000002ED67	SNV	TP53,3_prime_UTR_variant,,ENST00000445888,;TP53,3_prime_UTR_variant,,ENST00000420246,;TP53,3_prime_UTR_variant,,ENST00000269305,;TP53,3_prime_UTR_variant,,ENST00000455263,;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;	1559	17	8	SUCCESS
JUNB	3726	.	GRCh37	19	12903946	12903946	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	134	246	0	ENST00000302754.4:c.*317C>G			ENST00000302754	NM_002229.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12280.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTACTCAAGCC	NONE	.	.	.	.	.	ENSP00000303315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302754	Transcript	.	.	ENSG00000171223	6205	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JUNB_HUMAN	JUNB	HGNC	Q5U079_HUMAN	.	UPI000012DACF	SNV	JUNB,3_prime_UTR_variant,,ENST00000302754,;PRDX2,downstream_gene_variant,,ENST00000301522,;PRDX2,downstream_gene_variant,,ENST00000334482,;CTD-2659N19.10,upstream_gene_variant,,ENST00000585496,;HOOK2,intron_variant,,ENST00000589765,;PRDX2,downstream_gene_variant,,ENST00000466174,;HOOK2,upstream_gene_variant,,ENST00000593143,;	1637	246	220	SUCCESS
C19orf60	0	.	GRCh37	19	18703049	18703049	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	38	0	ENST00000358607.6:c.*59C>G			ENST00000358607	NM_001100418.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42524.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCAGCC	NONE	.	.	.	.	.	ENSP00000351422	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358607	Transcript	.	.	ENSG00000006015	26098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS060_HUMAN	C19orf60	HGNC	.	.	UPI000006EE88	SNV	C19orf60,3_prime_UTR_variant,,ENST00000358607,;C19orf60,3_prime_UTR_variant,,ENST00000450195,;C19orf60,3_prime_UTR_variant,,ENST00000595490,;CRLF1,downstream_gene_variant,,ENST00000597131,;CRLF1,downstream_gene_variant,,ENST00000392386,;CRLF1,intron_variant,,ENST00000594325,;C19orf60,3_prime_UTR_variant,,ENST00000601736,;C19orf60,non_coding_transcript_exon_variant,,ENST00000598375,;C19orf60,non_coding_transcript_exon_variant,,ENST00000595077,;C19orf60,non_coding_transcript_exon_variant,,ENST00000597371,;C19orf60,non_coding_transcript_exon_variant,,ENST00000600997,;CRLF1,downstream_gene_variant,,ENST00000596360,;	742	38	32	SUCCESS
ZNF681	148213	.	GRCh37	19	23926367	23926367	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	28	0	ENST00000395385.3:c.*47T>A			ENST00000395385				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12414.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCACAATCAA	NONE	.	.	.	.	.	ENSP00000384000	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000402377	Transcript	.	.	ENSG00000196172	26457	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN681_HUMAN	ZNF681	HGNC	E9PSC0_HUMAN,E9PJB6_HUMAN	.	UPI000022ABC8	SNV	ZNF681,3_prime_UTR_variant,,ENST00000395385,;ZNF681,3_prime_UTR_variant,,ENST00000402377,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	2127	28	32	SUCCESS
SBSN	374897	.	GRCh37	19	36014299	36014299	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	27	0	ENST00000452271.2:c.*113A>T			ENST00000452271	NM_001166034.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54253.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGTACAAC	NONE	.	.	.	.	.	ENSP00000430242	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000452271	Transcript	.	.	ENSG00000189001	24950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SBSN_HUMAN	SBSN	HGNC	.	.	UPI000059D6E7	SNV	SBSN,3_prime_UTR_variant,,ENST00000452271,;SBSN,3_prime_UTR_variant,,ENST00000518157,;SBSN,3_prime_UTR_variant,,ENST00000588674,;	1915	27	39	SUCCESS
FPR3	2359	.	GRCh37	19	52328589	52328589	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs774993261	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	65	0	ENST00000339223.4:c.*526T>A			ENST00000339223	NM_002030.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12841.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGTGTTCA	NONE	.	.	.	.	.	ENSP00000341821	.	2/2	.	.	.	.	.	.	.	.	rs774993261	2/2	PASS	ENST00000339223	Transcript	.	.	ENSG00000187474	3828	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FPR3_HUMAN	FPR3	HGNC	Q6L5J4_HUMAN	.	UPI000011DFC1	SNV	FPR3,3_prime_UTR_variant,,ENST00000339223,;FPR3,3_prime_UTR_variant,,ENST00000595991,;	1767	65	42	SUCCESS
PLEKHO1	51177	.	GRCh37	1	150131752	150131752	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	275	35	149	0	ENST00000369124.4:c.*34A>T			ENST00000369124	NM_016274.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS945.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGACAGAC	NONE	.	.	.	.	.	ENSP00000358120	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369124	Transcript	.	.	ENSG00000023902	24310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PKHO1_HUMAN	PLEKHO1	HGNC	Q5T4P9_HUMAN	.	UPI000006DFAC	SNV	PLEKHO1,3_prime_UTR_variant,,ENST00000369126,;PLEKHO1,3_prime_UTR_variant,,ENST00000025469,;PLEKHO1,3_prime_UTR_variant,,ENST00000369124,;PLEKHO1,downstream_gene_variant,,ENST00000441340,;PLEKHO1,intron_variant,,ENST00000502767,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;PLEKHO1,downstream_gene_variant,,ENST00000479194,;PLEKHO1,downstream_gene_variant,,ENST00000485470,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	1542	149	311	SUCCESS
LCE3E	353145	.	GRCh37	1	152538215	152538215	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	11	0	ENST00000368789.1:c.*191T>G			ENST00000368789	NM_178435.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1013.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACATATGACA	NONE	.	.	.	.	.	ENSP00000357778	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368789	Transcript	.	.	ENSG00000185966	29463	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCE3E_HUMAN	LCE3E	HGNC	.	.	UPI00001927D0	SNV	LCE3E,3_prime_UTR_variant,,ENST00000368789,;	526	11	33	SUCCESS
LCE1E	353135	.	GRCh37	1	152760855	152760855	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	13	48	0	ENST00000368770.3:c.*723T>A			ENST00000368770	NM_178353.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1024.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGTATAAT	NONE	.	.	.	.	.	ENSP00000357759	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368770	Transcript	.	.	ENSG00000186226	29466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCE1E_HUMAN	LCE1E	HGNC	.	.	UPI0000161050	SNV	LCE1E,3_prime_UTR_variant,,ENST00000368770,;LCE1E,downstream_gene_variant,,ENST00000368771,;	1133	48	108	SUCCESS
NUP210L	91181	.	GRCh37	1	154130187	154130187	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	41	0				ENST00000368559	NM_207308.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41399.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCATTTCAG	NONE	.	2595	.	.	.	ENSP00000357547	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368559	Transcript	.	.	ENSG00000143552	29915	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P210L_HUMAN	NUP210L	HGNC	.	.	UPI000023724F	SNV	TPM3,synonymous_variant,p.%3D,ENST00000341372,;TPM3,synonymous_variant,p.%3D,ENST00000302206,;TPM3,synonymous_variant,p.%3D,ENST00000271850,;TPM3,synonymous_variant,p.%3D,ENST00000341485,;TPM3,synonymous_variant,p.%3D,ENST00000368533,;TPM3,synonymous_variant,p.%3D,ENST00000330188,;TPM3,3_prime_UTR_variant,,ENST00000328159,;TPM3,downstream_gene_variant,,ENST00000368531,;NUP210L,upstream_gene_variant,,ENST00000368559,;NUP210L,upstream_gene_variant,,ENST00000271854,;TPM3,downstream_gene_variant,,ENST00000323144,;TPM3,non_coding_transcript_exon_variant,,ENST00000312970,;TPM3,non_coding_transcript_exon_variant,,ENST00000469717,;TPM3,3_prime_UTR_variant,,ENST00000509409,;TPM3,non_coding_transcript_exon_variant,,ENST00000368545,;TPM3,non_coding_transcript_exon_variant,,ENST00000513769,;	.	41	53	SUCCESS
SPTA1	6708	.	GRCh37	1	158580951	158580951	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	22	0	ENST00000368147.4:c.*103T>A			ENST00000368147	NM_003126.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41423.1	.	MUTECT|MUSE|VARSCANS	.	CACACACACAC	NONE	.	.	.	.	.	ENSP00000357129	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000368147	Transcript	.	.	ENSG00000163554	11272	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPTA1_HUMAN	SPTA1	HGNC	O60686_HUMAN	.	UPI0000458906	SNV	SPTA1,3_prime_UTR_variant,,ENST00000368147,;OR10Z1,downstream_gene_variant,,ENST00000361284,;SPTA1,downstream_gene_variant,,ENST00000485680,;SPTA1,downstream_gene_variant,,ENST00000481212,;SPTA1,downstream_gene_variant,,ENST00000492934,;SPTA1,downstream_gene_variant,,ENST00000498708,;	7544	22	46	SUCCESS
MNDA	4332	.	GRCh37	1	158819078	158819078	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	451	57	281	0	ENST00000368141.4:c.*51T>A			ENST00000368141	NM_002432.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1177.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAAGTTGTTAA	NONE	.	.	.	.	.	ENSP00000357123	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368141	Transcript	.	.	ENSG00000163563	7183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MNDA_HUMAN	MNDA	HGNC	Q5VUU6_HUMAN	.	UPI0000001609	SNV	MNDA,3_prime_UTR_variant,,ENST00000438394,;MNDA,3_prime_UTR_variant,,ENST00000368141,;	1536	281	508	SUCCESS
CST8	10047	.	GRCh37	20	23476626	23476626	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	18	0	ENST00000246012.1:c.*75T>A			ENST00000246012	NM_005492.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13156.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCTCTTCC	NONE	.	.	.	.	.	ENSP00000246012	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000246012	Transcript	.	.	ENSG00000125815	2480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST8_HUMAN	CST8	HGNC	A2A2N0_HUMAN	.	UPI00001285BB	SNV	CST8,3_prime_UTR_variant,,ENST00000246012,;CST8,downstream_gene_variant,,ENST00000449810,;	861	18	25	SUCCESS
BPIFB4	149954	.	GRCh37	20	31699282	31699282	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs374503104	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	17	87	0	ENST00000375483.3:c.*39T>A			ENST00000375483	NM_182519.2			0	C:0.0005	.	.	.	.	A	.	protein_coding	YES	CCDS13213.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTGGAAC	NONE	byFrequency|byCluster	.	.	.	C:0.0001	ENSP00000364632	.	16/16	.	.	.	.	.	.	.	.	rs374503104	16/16	PASS	ENST00000375483	Transcript	.	.	ENSG00000186191	16179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIB4_HUMAN	BPIFB4	HGNC	.	.	UPI0000206190	SNV	BPIFB4,3_prime_UTR_variant,,ENST00000375483,;BPIFB4,non_coding_transcript_exon_variant,,ENST00000494121,;	1884	87	88	SUCCESS
FAM217B	63939	.	GRCh37	20	58521263	58521263	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	29	82	0	ENST00000358293.3:c.*1113C>G			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13484.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTCCAAGCC	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,downstream_gene_variant,,ENST00000469084,;	2680	82	109	SUCCESS
GRIK1-AS2	100379661	.	GRCh37	21	31002945	31002945	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	80	0	ENST00000333765.4:c.*516A>T			ENST00000333765				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAGACTGCA	NONE	.	.	.	.	.	ENSP00000330087	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000333765	Transcript	.	.	ENSG00000183653	1282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	GRIK1-AS2	HGNC	.	.	UPI0000072D97	SNV	BACH1,3_prime_UTR_variant,,ENST00000468059,;BACH1,3_prime_UTR_variant,,ENST00000422809,;GRIK1-AS2,3_prime_UTR_variant,,ENST00000333765,;GRIK1,intron_variant,,ENST00000327783,;GRIK1,intron_variant,,ENST00000389124,;GRIK1,intron_variant,,ENST00000399914,;GRIK1,intron_variant,,ENST00000535441,;GRIK1,intron_variant,,ENST00000399907,;GRIK1,intron_variant,,ENST00000399909,;GRIK1,intron_variant,,ENST00000399913,;GRIK1,intron_variant,,ENST00000309434,;GRIK1,intron_variant,,ENST00000389125,;BACH1,non_coding_transcript_exon_variant,,ENST00000462262,;GRIK1,intron_variant,,ENST00000472429,;	951	80	52	SUCCESS
TNFAIP6	7130	.	GRCh37	2	152236098	152236098	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	45	0	ENST00000243347.3:c.*51T>A			ENST00000243347	NM_007115.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2193.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTTGGAAC	NONE	.	.	.	.	.	ENSP00000243347	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000243347	Transcript	.	.	ENSG00000123610	11898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSG6_HUMAN	TNFAIP6	HGNC	.	.	UPI0000071080	SNV	TNFAIP6,3_prime_UTR_variant,,ENST00000243347,;	960	45	34	SUCCESS
FASTKD2	22868	.	GRCh37	2	207656548	207656548	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs766106172	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	12	62	0	ENST00000236980.6:c.*22A>T			ENST00000236980	NM_014929.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2371.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCATATTAGG	NONE	byFrequency	.	.	.	.	ENSP00000236980	.	12/12	.	.	.	.	.	.	.	.	rs766106172	12/12	PASS	ENST00000236980	Transcript	.	.	ENSG00000118246	29160	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAKD2_HUMAN	FASTKD2	HGNC	C9JPI6_HUMAN	.	UPI0000073E9F	SNV	FASTKD2,3_prime_UTR_variant,,ENST00000402774,;FASTKD2,3_prime_UTR_variant,,ENST00000236980,;FASTKD2,downstream_gene_variant,,ENST00000403094,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;FASTKD2,downstream_gene_variant,,ENST00000471788,;	2503	62	63	SUCCESS
DTYMK	1841	.	GRCh37	2	242615449	242615449	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	22	0	ENST00000305784.2:c.*93C>T			ENST00000305784	NM_001165031.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2552.1	.	MUTECT|MUSE	.	GTTGTGGGGTC	NONE	.	.	.	.	.	ENSP00000304802	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000305784	Transcript	.	.	ENSG00000168393	3061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KTHY_HUMAN	DTYMK	HGNC	Q6FGU2_HUMAN	.	UPI000013EA9F	SNV	DTYMK,3_prime_UTR_variant,,ENST00000305784,;ATG4B,downstream_gene_variant,,ENST00000474739,;ATG4B,downstream_gene_variant,,ENST00000404914,;DTYMK,downstream_gene_variant,,ENST00000420144,;DTYMK,downstream_gene_variant,,ENST00000445261,;ATG4B,downstream_gene_variant,,ENST00000428861,;ATG4B,downstream_gene_variant,,ENST00000396411,;ATG4B,downstream_gene_variant,,ENST00000405546,;ATG4B,downstream_gene_variant,,ENST00000402096,;DTYMK,3_prime_UTR_variant,,ENST00000400770,;ATG4B,downstream_gene_variant,,ENST00000494132,;ATG4B,downstream_gene_variant,,ENST00000494465,;DTYMK,downstream_gene_variant,,ENST00000432348,;ATG4B,downstream_gene_variant,,ENST00000460211,;ATG4B,downstream_gene_variant,,ENST00000475693,;ATG4B,downstream_gene_variant,,ENST00000482507,;ATG4B,downstream_gene_variant,,ENST00000344376,;	940	22	21	SUCCESS
MCFD2	90411	.	GRCh37	2	47132513	47132513	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	51	0	ENST00000319466.4:c.*89A>T			ENST00000319466	NM_139279.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33192.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTAGTTGGAAA	NONE	.	.	.	.	.	ENSP00000386651	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409105	Transcript	.	.	ENSG00000180398	18451	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCFD2_HUMAN	MCFD2	HGNC	C9JTR4_HUMAN	.	UPI000005275E	SNV	MCFD2,3_prime_UTR_variant,,ENST00000409800,;MCFD2,3_prime_UTR_variant,,ENST00000319466,;MCFD2,3_prime_UTR_variant,,ENST00000409913,;MCFD2,3_prime_UTR_variant,,ENST00000444761,;MCFD2,3_prime_UTR_variant,,ENST00000409105,;MCFD2,3_prime_UTR_variant,,ENST00000409207,;MCFD2,3_prime_UTR_variant,,ENST00000409147,;MCFD2,3_prime_UTR_variant,,ENST00000409973,;MCFD2,downstream_gene_variant,,ENST00000412438,;MCFD2,downstream_gene_variant,,ENST00000409218,;MCFD2,downstream_gene_variant,,ENST00000434262,;MCFD2,downstream_gene_variant,,ENST00000417180,;AC016722.4,intron_variant,,ENST00000429761,;MCFD2,non_coding_transcript_exon_variant,,ENST00000470873,;MCFD2,non_coding_transcript_exon_variant,,ENST00000493804,;MCFD2,downstream_gene_variant,,ENST00000477791,;MCFD2,downstream_gene_variant,,ENST00000487121,;MCFD2,downstream_gene_variant,,ENST00000479225,;	710	51	38	SUCCESS
ETAA1	54465	.	GRCh37	2	67637305	67637305	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	62	0	ENST00000272342.5:c.*135A>T			ENST00000272342	NM_019002.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1882.1	.	MUTECT|MUSE	.	TTAATAAATCA	NONE	.	.	.	.	.	ENSP00000272342	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000272342	Transcript	.	.	ENSG00000143971	24648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ETAA1_HUMAN	ETAA1	HGNC	.	.	UPI00001414BC	SNV	ETAA1,3_prime_UTR_variant,,ENST00000272342,;ETAA1,downstream_gene_variant,,ENST00000462772,;	3046	62	63	SUCCESS
HRH1	3269	.	GRCh37	3	11303229	11303229	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	58	132	0	ENST00000397056.1:c.*1042A>G			ENST00000397056	NM_000861.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2604.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAATGTGC	NONE	.	.	.	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,3_prime_UTR_variant,,ENST00000431010,;HRH1,3_prime_UTR_variant,,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;HRH1,downstream_gene_variant,,ENST00000438284,;	2697	132	108	SUCCESS
CCR3	1232	.	GRCh37	3	46308011	46308011	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	21	109	0	ENST00000357422.2:c.*294T>A			ENST00000357422				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54574.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTACTATATG	NONE	.	.	.	.	.	ENSP00000441600	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000545097	Transcript	.	.	ENSG00000183625	1604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR3_HUMAN	CCR3	HGNC	Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN	.	UPI000020A60F	SNV	CCR3,3_prime_UTR_variant,,ENST00000545097,;CCR3,3_prime_UTR_variant,,ENST00000395940,;CCR3,3_prime_UTR_variant,,ENST00000357422,;CCR3,3_prime_UTR_variant,,ENST00000541018,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000395942,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000484025,;CCR3,downstream_gene_variant,,ENST00000475150,;	1600	109	79	SUCCESS
HTR1F	3355	.	GRCh37	3	88042851	88042851	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	225	101	307	0	ENST00000319595.4:c.*1851A>T			ENST00000319595	NM_000866.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2920.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAAGAAAA	NONE	.	.	.	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,3_prime_UTR_variant,,ENST00000319595,;	3006	307	326	SUCCESS
FGG	2266	.	GRCh37	4	155525396	155525396	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	59	240	0				ENST00000336098	NM_021870.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3788.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGTGAAGCT	NONE	.	332	.	.	.	ENSP00000336829	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336098	Transcript	1	.	ENSG00000171557	3694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIBG_HUMAN	FGG	HGNC	C9JU00_HUMAN,C9JPQ9_HUMAN	.	UPI000012A78D	SNV	FGG,3_prime_UTR_variant,,ENST00000404648,;FGG,3_prime_UTR_variant,,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000407946,;FGG,downstream_gene_variant,,ENST00000336098,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;	.	240	144	SUCCESS
RWDD4	201965	.	GRCh37	4	184562451	184562451	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	127	0	ENST00000326397.5:c.*138del			ENST00000326397	NM_152682.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34111.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTACAACCTT	NONE	.	.	.	.	.	ENSP00000388920	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000326397	Transcript	.	.	ENSG00000182552	23750	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RWDD4_HUMAN	RWDD4	HGNC	E7EV43_HUMAN,D6R9C7_HUMAN,B4DDP2_HUMAN	.	UPI00003507F9	deletion	RWDD4,3_prime_UTR_variant,,ENST00000327570,;RWDD4,3_prime_UTR_variant,,ENST00000510968,;RWDD4,3_prime_UTR_variant,,ENST00000512740,;RWDD4,3_prime_UTR_variant,,ENST00000326397,;RWDD4,3_prime_UTR_variant,,ENST00000510702,;RWDD4,downstream_gene_variant,,ENST00000514322,;	978	127	93	SUCCESS
KIF3A	11127	.	GRCh37	5	132032303	132032303	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	221	52	212	0	ENST00000378746.4:c.*23A>T			ENST00000378746	NM_007054.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34235.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATTGTGA	NONE	.	.	.	.	.	ENSP00000368020	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000378746	Transcript	.	.	ENSG00000131437	6319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF3A_HUMAN	KIF3A	HGNC	.	.	UPI000035B258	SNV	KIF3A,3_prime_UTR_variant,,ENST00000450441,;KIF3A,3_prime_UTR_variant,,ENST00000378746,;KIF3A,3_prime_UTR_variant,,ENST00000378735,;KIF3A,downstream_gene_variant,,ENST00000403231,;AC004237.1,intron_variant,,ENST00000431165,;KIF3A,non_coding_transcript_exon_variant,,ENST00000488471,;KIF3A,downstream_gene_variant,,ENST00000487055,;	2342	212	273	SUCCESS
HSPA4	3308	.	GRCh37	5	132440241	132440241	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	19	66	0	ENST00000304858.2:c.*113G>A			ENST00000304858	NM_002154.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4166.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAGGGGAT	NONE	.	.	.	.	.	ENSP00000302961	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000304858	Transcript	.	.	ENSG00000170606	5237	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSP74_HUMAN	HSPA4	HGNC	Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN	.	UPI000013E9D5	SNV	HSPA4,3_prime_UTR_variant,,ENST00000304858,;HSPA4,downstream_gene_variant,,ENST00000514825,;	2925	66	59	SUCCESS
RNF145	153830	.	GRCh37	5	158585665	158585665	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	28	0	ENST00000424310.2:c.*13A>T			ENST00000424310	NM_001199383.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56393.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCTGCTGC	NONE	.	.	.	.	.	ENSP00000430955	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000518802	Transcript	.	.	ENSG00000145860	20853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN145_HUMAN	RNF145	HGNC	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN	.	UPI0001E8F5CB	SNV	RNF145,3_prime_UTR_variant,,ENST00000521606,;RNF145,3_prime_UTR_variant,,ENST00000274542,;RNF145,3_prime_UTR_variant,,ENST00000520638,;RNF145,3_prime_UTR_variant,,ENST00000519865,;RNF145,3_prime_UTR_variant,,ENST00000518802,;RNF145,3_prime_UTR_variant,,ENST00000424310,;RNF145,non_coding_transcript_exon_variant,,ENST00000518284,;RNF145,intron_variant,,ENST00000519985,;RNF145,downstream_gene_variant,,ENST00000521266,;RNF145,downstream_gene_variant,,ENST00000518062,;	2245	28	26	SUCCESS
ADGB	79747	.	GRCh37	6	147136414	147136414	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	19	67	0	ENST00000397944.3:c.*61T>A			ENST00000397944	NM_024694.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTTTAACTG	NONE	.	.	.	.	.	ENSP00000381036	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000397944	Transcript	.	.	ENSG00000118492	21212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADGB_HUMAN	ADGB	HGNC	.	.	UPI000020E382	SNV	ADGB,3_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000367490,;ADGB,3_prime_UTR_variant,,ENST00000397944,;ADGB,3_prime_UTR_variant,,ENST00000367488,;ADGB,3_prime_UTR_variant,,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;	5141	67	52	SUCCESS
POU3F2	5454	.	GRCh37	6	99286575	99286575	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	52	0	ENST00000328345.5:c.*2494T>A			ENST00000328345	NM_005604.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5040.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTTGTGCT	NONE	.	.	.	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	3996	52	44	SUCCESS
MOSPD3	64598	.	GRCh37	7	100212969	100212969	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	20	0				ENST00000223054	NM_001040097.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5701.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAAGTTG	NONE	.	.	.	.	.	ENSP00000377522	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000393950	Transcript	.	.	ENSG00000106330	25078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSPD3_HUMAN	MOSPD3	HGNC	F8WF07_HUMAN,C9J3M4_HUMAN	.	UPI000004A079	SNV	MOSPD3,3_prime_UTR_variant,,ENST00000424091,;MOSPD3,3_prime_UTR_variant,,ENST00000379527,;MOSPD3,3_prime_UTR_variant,,ENST00000393950,;MOSPD3,downstream_gene_variant,,ENST00000493970,;MOSPD3,downstream_gene_variant,,ENST00000223054,;MOSPD3,3_prime_UTR_variant,,ENST00000462372,;MOSPD3,downstream_gene_variant,,ENST00000490309,;MOSPD3,downstream_gene_variant,,ENST00000497456,;	1153	20	19	SUCCESS
ELMO1	9844	.	GRCh37	7	36895067	36895067	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs368359705	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	29	35	0	ENST00000310758.4:c.*89G>A			ENST00000310758	NM_014800.10			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5449.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACGGTTC	NONE	.	.	.	.	.	ENSP00000312185	.	22/22	.	.	.	.	.	.	.	.	rs368359705	22/22	PASS	ENST00000310758	Transcript	.	.	ENSG00000155849	16286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ELMO1_HUMAN	ELMO1	HGNC	C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN	.	UPI000006F687	SNV	ELMO1,3_prime_UTR_variant,,ENST00000396045,;ELMO1,3_prime_UTR_variant,,ENST00000442504,;ELMO1,3_prime_UTR_variant,,ENST00000310758,;ELMO1,3_prime_UTR_variant,,ENST00000396040,;ELMO1,3_prime_UTR_variant,,ENST00000341056,;ELMO1,downstream_gene_variant,,ENST00000448602,;ELMO1,downstream_gene_variant,,ENST00000487843,;ELMO1,non_coding_transcript_exon_variant,,ENST00000497024,;	2921	35	51	SUCCESS
SCARA5	286133	.	GRCh37	8	27729412	27729412	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	35	0	ENST00000354914.3:c.*39A>T			ENST00000354914	NM_173833.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6064.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGTGCTCT	NONE	.	.	.	.	.	ENSP00000346990	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000354914	Transcript	.	.	ENSG00000168079	28701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCAR5_HUMAN	SCARA5	HGNC	.	.	UPI000015FA6D	SNV	SCARA5,3_prime_UTR_variant,,ENST00000354914,;SCARA5,3_prime_UTR_variant,,ENST00000380385,;	2013	35	16	SUCCESS
UBE2V2	7336	.	GRCh37	8	48973492	48973492	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	33	50	0	ENST00000523111.2:c.*104A>T			ENST00000523111	NM_003350.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43738.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCAGCTGG	NONE	.	.	.	.	.	ENSP00000428209	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000523111	Transcript	.	.	ENSG00000169139	12495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UB2V2_HUMAN	UBE2V2	HGNC	G3V113_HUMAN,A0M8W4_HUMAN	.	UPI000006FD5B	SNV	UBE2V2,3_prime_UTR_variant,,ENST00000520809,;UBE2V2,3_prime_UTR_variant,,ENST00000523432,;UBE2V2,3_prime_UTR_variant,,ENST00000521346,;UBE2V2,3_prime_UTR_variant,,ENST00000523111,;UBE2V2,downstream_gene_variant,,ENST00000517630,;UBE2V2,non_coding_transcript_exon_variant,,ENST00000521628,;UBE2V2,downstream_gene_variant,,ENST00000520595,;UBE2V2,downstream_gene_variant,,ENST00000518360,;	597	50	61	SUCCESS
SMC5	23137	.	GRCh37	9	72967257	72967257	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	53	195	0	ENST00000361138.5:c.*10A>T			ENST00000361138	NM_015110.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6632.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAAGAGAG	NONE	.	.	.	.	.	ENSP00000354957	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,3_prime_UTR_variant,,ENST00000361138,;SMC5,downstream_gene_variant,,ENST00000471372,;	3374	195	177	SUCCESS
S1PR3	1903	.	GRCh37	9	91617383	91617383	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	19	62	0	ENST00000358157.2:c.*131T>A			ENST00000358157	NM_005226.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6680.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATGTCTCTT	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	5963	62	68	SUCCESS
PRPS2	5634	.	GRCh37	X	12840983	12840983	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	38	0	ENST00000380668.5:c.*68A>T			ENST00000380668	NM_001039091.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43918.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAGCTGT	NONE	.	.	.	.	.	ENSP00000381504	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000398491	Transcript	.	.	ENSG00000101911	9465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRPS2_HUMAN	PRPS2	HGNC	.	.	UPI000004A051	SNV	PRPS2,3_prime_UTR_variant,,ENST00000380668,;PRPS2,3_prime_UTR_variant,,ENST00000398491,;PRPS2,3_prime_UTR_variant,,ENST00000461630,;PSMA6P2,upstream_gene_variant,,ENST00000457574,;	1126	38	41	SUCCESS
FAM127B	0	.	GRCh37	X	134185139	134185139	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	13	0	ENST00000370775.2:c.*658C>A			ENST00000370775	NM_001078172.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGAGAAA	NONE	.	.	.	.	.	ENSP00000375267	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370775	Transcript	.	.	ENSG00000203950	24514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F127B_HUMAN	FAM127B	HGNC	.	.	UPI0000140B18	SNV	FAM127B,3_prime_UTR_variant,,ENST00000370775,;FAM127B,non_coding_transcript_exon_variant,,ENST00000522309,;FAM127B,non_coding_transcript_exon_variant,,ENST00000520964,;FAM127B,non_coding_transcript_exon_variant,,ENST00000518153,;	1067	13	18	SUCCESS
SAGE1	55511	.	GRCh37	X	134995190	134995190	+	downstream_gene_variant	3'Flank	SNP	A	A	T	rs782426115	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	24	46	0				ENST00000324447				0	.	G:0	.	G:0.0014	.	T	.	protein_coding	YES	CCDS14652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAAATTTAA	NONE	by1000G	.	.	G:0	.	ENSP00000445959	G:0	20/20	.	.	.	.	.	.	.	.	rs782426115	20/20	PASS	ENST00000535938	Transcript	.	G:0.0003	ENSG00000181433	30369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	SAGE1_HUMAN	SAGE1	HGNC	.	.	UPI00001413AB	SNV	SAGE1,3_prime_UTR_variant,,ENST00000370709,;SAGE1,3_prime_UTR_variant,,ENST00000535938,;SAGE1,downstream_gene_variant,,ENST00000537770,;SAGE1,downstream_gene_variant,,ENST00000324447,;	3016	46	66	SUCCESS
GPR112	0	.	GRCh37	X	135498737	135498737	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	19	45	0	ENST00000370652.1:c.*87T>A			ENST00000370652				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35409.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGATGGGTG	NONE	.	.	.	.	.	ENSP00000377699	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000394143	Transcript	.	.	ENSG00000156920	18992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP112_HUMAN	GPR112	HGNC	.	.	UPI00004CEC5B	SNV	GPR112,3_prime_UTR_variant,,ENST00000370652,;GPR112,3_prime_UTR_variant,,ENST00000394143,;GPR112,3_prime_UTR_variant,,ENST00000394141,;GPR112,3_prime_UTR_variant,,ENST00000412101,;GPR112,intron_variant,,ENST00000287534,;	9621	45	46	SUCCESS
UBE2NL	389898	.	GRCh37	X	142968077	142968077	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	98	58	160	0	ENST00000370494.1:c.*413T>A			ENST00000370494	NM_001012989.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35420.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTTGGTGA	NONE	.	.	.	.	.	ENSP00000359525	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370494	Transcript	.	.	ENSG00000102069	31710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UE2NL_HUMAN	UBE2NL	HGNC	.	.	UPI0000070C39	SNV	UBE2NL,3_prime_UTR_variant,,ENST00000370494,;	905	160	156	SUCCESS
ASMT	438	.	GRCh37	X	1761943	1761943	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	114	34	186	1				ENST00000381229				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14117.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACACAAGA	NONE	.	.	.	.	.	ENSP00000370639	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000381241	Transcript	.	.	ENSG00000196433	750	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASMT_HUMAN	ASMT	HGNC	.	.	UPI00001AEDD0	SNV	ASMT,3_prime_UTR_variant,,ENST00000381241,;ASMT,3_prime_UTR_variant,,ENST00000432523,;ASMT,3_prime_UTR_variant,,ENST00000381233,;ASMT,downstream_gene_variant,,ENST00000381229,;	1357	187	148	SUCCESS
TEX11	56159	.	GRCh37	X	69748829	69748829	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	26	57	0	ENST00000344304.3:c.*116T>A			ENST00000344304				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35323.1	.	MUTECT|MUSE	.	TCAACAACATG	NONE	.	.	.	.	.	ENSP00000379226	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000395889	Transcript	.	.	ENSG00000120498	11733	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TEX11_HUMAN	TEX11	HGNC	.	.	UPI000013CA89	SNV	TEX11,3_prime_UTR_variant,,ENST00000374320,;TEX11,3_prime_UTR_variant,,ENST00000374333,;TEX11,3_prime_UTR_variant,,ENST00000395889,;TEX11,3_prime_UTR_variant,,ENST00000344304,;	3095	57	57	SUCCESS
NHSL2	340527	.	GRCh37	X	71353838	71353838	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-DD-AAC8-01	TCGA-DD-AAC8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	31	0				ENST00000510661				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	AAGTCAGGCCT	NONE	.	.	.	.	.	ENSP00000444617	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540800	Transcript	.	.	ENSG00000204131	33737	.	.	MODIFIER	2/7	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	NHSL2	HGNC	F5H593_HUMAN	.	UPI0001B09231	SNV	NHSL2,5_prime_UTR_variant,,ENST00000373677,;NHSL2,intron_variant,,ENST00000540800,;RGAG4,upstream_gene_variant,,ENST00000609883,;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,upstream_gene_variant,,ENST00000535692,;RGAG4,upstream_gene_variant,,ENST00000545866,;RGAG4,upstream_gene_variant,,ENST00000479991,;RP11-262D11.1,intron_variant,,ENST00000513469,;	.	31	12	SUCCESS
DPCD	25911	.	GRCh37	10	103369246	103369246	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	6	98	0	ENST00000370151.4:c.*18T>C			ENST00000370151	NM_015448.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7514.1	.	MUTECT|MUSE	.	CCTTATACCTC	NONE	.	.	.	.	.	ENSP00000359170	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370151	Transcript	.	.	ENSG00000166171	24542	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPCD_HUMAN	DPCD	HGNC	.	.	UPI0000073BC7	SNV	DPCD,3_prime_UTR_variant,,ENST00000370151,;DPCD,downstream_gene_variant,,ENST00000370148,;DPCD,downstream_gene_variant,,ENST00000370147,;DPCD,downstream_gene_variant,,ENST00000434727,;FBXW4,downstream_gene_variant,,ENST00000331272,;DPCD,non_coding_transcript_exon_variant,,ENST00000475443,;FBXW4,downstream_gene_variant,,ENST00000470093,;FBXW4,downstream_gene_variant,,ENST00000482428,;	679	98	99	SUCCESS
FAM160B1	0	.	GRCh37	10	116623504	116623504	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	50	0	ENST00000369248.4:c.*2205C>T			ENST00000369248	NM_020940.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31290.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCTGAAT	NONE	.	.	.	.	.	ENSP00000358251	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000369248	Transcript	.	.	ENSG00000151553	29320	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F16B1_HUMAN	FAM160B1	HGNC	.	.	UPI0000160B10	SNV	FAM160B1,3_prime_UTR_variant,,ENST00000411414,;FAM160B1,3_prime_UTR_variant,,ENST00000369248,;FAM160B1,intron_variant,,ENST00000369250,;	4838	50	48	SUCCESS
C11orf87	399947	.	GRCh37	11	109295085	109295085	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	105	5	87	0	ENST00000327419.6:c.*132C>T			ENST00000327419	NM_207645.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31672.1	.	MUTECT|MUSE	.	CTCCCCTTACT	NONE	.	.	.	.	.	ENSP00000331581	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000327419	Transcript	.	.	ENSG00000185742	33788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK087_HUMAN	C11orf87	HGNC	.	.	UPI000013E5BC	SNV	C11orf87,3_prime_UTR_variant,,ENST00000327419,;RP11-708B6.2,intron_variant,,ENST00000532929,;RP11-708B6.2,intron_variant,,ENST00000532992,;	1129	87	110	SUCCESS
LARP4	113251	.	GRCh37	12	50869876	50869876	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1350699434	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	24	0	ENST00000398473.2:c.*229C>T			ENST00000398473	NM_199188.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41782.1	.	MUTECT|MUSE	.	ATATACACACA	NONE	.	.	.	.	.	ENSP00000381490	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000398473	Transcript	.	.	ENSG00000161813	24320	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LARP4_HUMAN	LARP4	HGNC	Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN	.	UPI00002293C3	SNV	LARP4,3_prime_UTR_variant,,ENST00000520064,;LARP4,3_prime_UTR_variant,,ENST00000398473,;LARP4,3_prime_UTR_variant,,ENST00000293618,;LARP4,3_prime_UTR_variant,,ENST00000347328,;LARP4,3_prime_UTR_variant,,ENST00000429001,;LARP4,3_prime_UTR_variant,,ENST00000518444,;	2516	24	29	SUCCESS
SIGLEC5	8778	.	GRCh37	19	52115409	52115409	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	50	0	ENST00000534261.2:c.*75T>C			ENST00000534261				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33088.1	.	MUTECT|MUSE|VARSCANS	.	TCAGCAAGTGG	NONE	.	.	.	.	.	ENSP00000455510	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000570106	Transcript	.	.	ENSG00000105501	10874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SIGL5_HUMAN	SIGLEC5	HGNC	.	.	UPI000011B40C	SNV	SIGLEC5,3_prime_UTR_variant,,ENST00000534261,;SIGLEC5,3_prime_UTR_variant,,ENST00000599649,;SIGLEC5,3_prime_UTR_variant,,ENST00000570106,;SIGLEC5,3_prime_UTR_variant,,ENST00000429354,;SIGLEC5,3_prime_UTR_variant,,ENST00000222107,;	1731	50	49	SUCCESS
RFTN1	23180	.	GRCh37	3	16358270	16358270	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	12	63	0	ENST00000334133.4:c.*65G>A			ENST00000334133	NM_015150.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33712.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAACCAGCT	NONE	.	.	.	.	.	ENSP00000334153	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000334133	Transcript	.	.	ENSG00000131378	30278	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFTN1_HUMAN	RFTN1	HGNC	C9JRN3_HUMAN,C9JWQ9_HUMAN,C9JHG2_HUMAN,B4E1H7_HUMAN	.	UPI00001C1DE7	SNV	RFTN1,3_prime_UTR_variant,,ENST00000432519,;RFTN1,3_prime_UTR_variant,,ENST00000334133,;OXNAD1,intron_variant,,ENST00000606098,;OXNAD1,intron_variant,,ENST00000435829,;OXNAD1,intron_variant,,ENST00000544043,;OXNAD1,intron_variant,,ENST00000605932,;RP11-415F23.2,downstream_gene_variant,,ENST00000607464,;RFTN1,non_coding_transcript_exon_variant,,ENST00000483671,;RFTN1,intron_variant,,ENST00000607320,;	2075	63	57	SUCCESS
LRRN1	57633	.	GRCh37	3	3888771	3888771	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	22	107	0	ENST00000319331.3:c.*295C>A			ENST00000319331	NM_020873.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33685.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTTCTAACT	NONE	.	.	.	.	.	ENSP00000314901	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319331	Transcript	.	.	ENSG00000175928	20980	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRN1_HUMAN	LRRN1	HGNC	.	.	UPI0000034CB8	SNV	LRRN1,3_prime_UTR_variant,,ENST00000319331,;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;	3207	107	108	SUCCESS
CAPSL	133690	.	GRCh37	5	35904531	35904531	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	13	53	0	ENST00000397366.1:c.*116G>T			ENST00000397366	NM_001042625.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3912.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGACACAGA	NONE	.	.	.	.	.	ENSP00000380524	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000397367	Transcript	.	.	ENSG00000152611	28375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPSL_HUMAN	CAPSL	HGNC	D6RF97_HUMAN	.	UPI0000149B20	SNV	CAPSL,3_prime_UTR_variant,,ENST00000397366,;CAPSL,3_prime_UTR_variant,,ENST00000397367,;CAPSL,downstream_gene_variant,,ENST00000513623,;	870	53	56	SUCCESS
C6orf52	347744	.	GRCh37	6	10671652	10671652	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	20	92	0				ENST00000259983	NM_001145020.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47371.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATTAGTAT	NONE	.	1	.	.	.	ENSP00000259983	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000259983	Transcript	.	.	ENSG00000137434	20881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF052_HUMAN	C6orf52	HGNC	.	.	UPI0000199A49	SNV	C6orf52,3_prime_UTR_variant,,ENST00000460742,;C6orf52,downstream_gene_variant,,ENST00000503680,;C6orf52,downstream_gene_variant,,ENST00000426700,;C6orf52,downstream_gene_variant,,ENST00000259983,;C6orf52,downstream_gene_variant,,ENST00000379586,;Y_RNA,downstream_gene_variant,,ENST00000364178,;C6orf52,downstream_gene_variant,,ENST00000467832,;	.	92	83	SUCCESS
CLVS2	134829	.	GRCh37	6	123385012	123385012	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	28	0	ENST00000275162.5:c.*106G>T			ENST00000275162	NM_001010852.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34525.1	.	MUTECT|MUSE	.	TTCATGTTAAT	NONE	.	.	.	.	.	ENSP00000275162	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000275162	Transcript	.	.	ENSG00000146352	23046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLVS2_HUMAN	CLVS2	HGNC	.	.	UPI000013DA49	SNV	CLVS2,3_prime_UTR_variant,,ENST00000368438,;CLVS2,3_prime_UTR_variant,,ENST00000275162,;	2425	28	27	SUCCESS
MIR219-1	0	.	GRCh37	6	33172866	33172866	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	18	55	0				ENST00000362166		80		0	.	.	.	.	.	T	R/S	protein_coding	YES	CCDS4769.1	240	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGGGCCGC	NONE	.	.	hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF254,Gene3D:3.40.50.720,Pfam_domain:PF00106,SMART_domains:SM00822,Superfamily_domains:SSF51735	.	.	ENSP00000363794	.	2/9	.	.	.	.	.	.	.	.	.	2/9	PASS	ENST00000374662	Transcript	.	.	ENSG00000204228	3554	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.58)	.	DHB8_HUMAN	HSD17B8	HGNC	.	.	UPI0000000C8E	SNV	HSD17B8,missense_variant,p.Arg80Ser,ENST00000374662,;RXRB,upstream_gene_variant,,ENST00000544186,;SLC39A7,downstream_gene_variant,,ENST00000374675,;RING1,upstream_gene_variant,,ENST00000374656,;SLC39A7,downstream_gene_variant,,ENST00000444757,;SLC39A7,downstream_gene_variant,,ENST00000374677,;RXRB,upstream_gene_variant,,ENST00000413614,;RXRB,upstream_gene_variant,,ENST00000374680,;RXRB,upstream_gene_variant,,ENST00000374685,;MIR219-1,upstream_gene_variant,,ENST00000362166,;HSD17B8,non_coding_transcript_exon_variant,,ENST00000469186,;SLC39A7,downstream_gene_variant,,ENST00000463972,;RING1,upstream_gene_variant,,ENST00000478431,;RXRB,upstream_gene_variant,,ENST00000483281,;	267	55	64	SUCCESS
GCNT1	2650	.	GRCh37	9	79120117	79120117	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAC9-01	TCGA-DD-AAC9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	116	43	132	0	ENST00000376730.4:c.*1533G>T			ENST00000376730	NM_001490.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6653.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGTATTA	NONE	.	.	.	.	.	ENSP00000415454	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000442371	Transcript	.	.	ENSG00000187210	4203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCNT1_HUMAN	GCNT1	HGNC	.	.	UPI000013CF63	SNV	GCNT1,3_prime_UTR_variant,,ENST00000376730,;GCNT1,3_prime_UTR_variant,,ENST00000442371,;GCNT1,3_prime_UTR_variant,,ENST00000444201,;GCNT1,downstream_gene_variant,,ENST00000536223,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	3759	132	159	SUCCESS
SRGN	5552	.	GRCh37	10	70863975	70863975	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	11	44	0	ENST00000242465.3:c.*99T>C			ENST00000242465	NM_002727.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7285.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAAATTTTTAA	NONE	.	.	.	.	.	ENSP00000242465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000242465	Transcript	.	.	ENSG00000122862	9361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRGN_HUMAN	SRGN	HGNC	.	.	UPI000013CB03	SNV	SRGN,3_prime_UTR_variant,,ENST00000242465,;SRGN,non_coding_transcript_exon_variant,,ENST00000462445,;	616	44	18	SUCCESS
CRTAM	56253	.	GRCh37	11	122742169	122742169	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1300734638	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	91	0	ENST00000227348.4:c.*62C>T			ENST00000227348	NM_019604.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8437.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCCTGGGG	NONE	.	.	.	.	.	ENSP00000227348	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000227348	Transcript	.	.	ENSG00000109943	24313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRTAM_HUMAN	CRTAM	HGNC	.	.	UPI000013C8B4	SNV	CRTAM,3_prime_UTR_variant,,ENST00000227348,;CRTAM,3_prime_UTR_variant,,ENST00000533709,;CRTAM,non_coding_transcript_exon_variant,,ENST00000533416,;	1291	91	54	SUCCESS
ASRGL1	80150	.	GRCh37	11	62159876	62159876	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	39	0	ENST00000301776.5:c.*120G>A			ENST00000301776	NM_025080.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8019.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTTTGTTGCC	NONE	.	.	.	.	.	ENSP00000400057	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000415229	Transcript	.	.	ENSG00000162174	16448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASGL1_HUMAN	ASRGL1	HGNC	Q9BRH2_HUMAN	.	UPI000004BF00	SNV	ASRGL1,3_prime_UTR_variant,,ENST00000415229,;ASRGL1,3_prime_UTR_variant,,ENST00000301776,;ASRGL1,downstream_gene_variant,,ENST00000535727,;CTD-2531D15.5,intron_variant,,ENST00000526045,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000533970,;ASRGL1,non_coding_transcript_exon_variant,,ENST00000525708,;ASRGL1,downstream_gene_variant,,ENST00000534183,;ASRGL1,downstream_gene_variant,,ENST00000529226,;	1262	39	27	SUCCESS
SLC22A10	387775	.	GRCh37	11	63078752	63078752	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	36	0	ENST00000332793.6:c.*246T>C			ENST00000332793	NM_001039752.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41661.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCCTTTAAA	NONE	.	.	.	.	.	ENSP00000327569	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000332793	Transcript	.	.	ENSG00000184999	18057	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22AA_HUMAN	SLC22A10	HGNC	B4DJY8_HUMAN	.	UPI0000D62620	SNV	SLC22A10,3_prime_UTR_variant,,ENST00000544661,;SLC22A10,3_prime_UTR_variant,,ENST00000332793,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,downstream_gene_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,3_prime_UTR_variant,,ENST00000533483,;	1874	36	20	SUCCESS
INPPL1	3636	.	GRCh37	11	71949399	71949399	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	43	126	0	ENST00000298229.2:c.*2A>G			ENST00000298229	NM_001567.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8213.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGATAGCGGA	NONE	.	.	.	.	.	ENSP00000298229	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000298229	Transcript	.	.	ENSG00000165458	6080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SHIP2_HUMAN	INPPL1	HGNC	H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN	.	UPI000013E4AF	SNV	INPPL1,3_prime_UTR_variant,,ENST00000541752,;INPPL1,3_prime_UTR_variant,,ENST00000538751,;INPPL1,3_prime_UTR_variant,,ENST00000298229,;INPPL1,3_prime_UTR_variant,,ENST00000541756,;INPPL1,3_prime_UTR_variant,,ENST00000320683,;PHOX2A,downstream_gene_variant,,ENST00000298231,;PHOX2A,downstream_gene_variant,,ENST00000546310,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000542295,;	3983	126	102	SUCCESS
FUT4	2526	.	GRCh37	11	94281982	94281982	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	110	0	ENST00000358752.2:c.*3090A>T			ENST00000358752	NM_002033.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGAATGCAC	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	4966	110	34	SUCCESS
GREM1	26585	.	GRCh37	15	33024862	33024862	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	19	123	0	ENST00000300177.4:c.*1416A>G			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCATCTGC	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	2160	123	47	SUCCESS
SLC46A1	113235	.	GRCh37	17	26723213	26723213	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1555587908	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	31	45	0	ENST00000440501.1:c.*3459T>C			ENST00000440501	NM_080669.4	661		0	.	.	.	.	.	G	I/V	protein_coding	YES	.	1981	RADIA|MUTECT|MUSE	.	AGAAGATCATC	NONE	.	.	SMART_domains:SM00255,hmmpanther:PTHR22998	.	.	ENSP00000406738	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000457710	Transcript	.	.	ENSG00000004139	17074	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.471)	.	tolerated(0.28)	.	.	SARM1	HGNC	.	.	UPI0000042801	SNV	SARM1,missense_variant,p.Ile661Val,ENST00000457710,;SARM1,missense_variant,p.Ile228Val,ENST00000578128,;SARM1,3_prime_UTR_variant,,ENST00000579593,;SLC46A1,3_prime_UTR_variant,,ENST00000440501,;SLC46A1,3_prime_UTR_variant,,ENST00000321666,;SLC46A1,downstream_gene_variant,,ENST00000582735,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;SARM1,non_coding_transcript_exon_variant,,ENST00000003834,;SARM1,non_coding_transcript_exon_variant,,ENST00000577870,;SARM1,downstream_gene_variant,,ENST00000580711,;SLC46A1,downstream_gene_variant,,ENST00000582345,;	2452	45	63	SUCCESS
SLC46A1	113235	.	GRCh37	17	26723216	26723216	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs782022324	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	28	43	0	ENST00000440501.1:c.*3456T>C			ENST00000440501	NM_080669.4	662		0	.	.	.	.	.	G	I/V	protein_coding	YES	.	1984	RADIA|MUTECT|MUSE	.	AGATCATCCGC	NONE	byFrequency	.	SMART_domains:SM00255,hmmpanther:PTHR22998	.	.	ENSP00000406738	.	9/9	.	.	.	.	.	.	.	.	rs782022324	9/9	PASS	ENST00000457710	Transcript	.	.	ENSG00000004139	17074	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	benign(0.033)	.	tolerated(0.42)	.	.	SARM1	HGNC	.	.	UPI0000042801	SNV	SARM1,missense_variant,p.Ile662Val,ENST00000457710,;SARM1,missense_variant,p.Ile229Val,ENST00000578128,;SARM1,3_prime_UTR_variant,,ENST00000579593,;SLC46A1,3_prime_UTR_variant,,ENST00000440501,;SLC46A1,3_prime_UTR_variant,,ENST00000321666,;SLC46A1,downstream_gene_variant,,ENST00000582735,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;SARM1,non_coding_transcript_exon_variant,,ENST00000003834,;SARM1,non_coding_transcript_exon_variant,,ENST00000577870,;SARM1,downstream_gene_variant,,ENST00000580711,;SLC46A1,downstream_gene_variant,,ENST00000582345,;	2455	43	57	SUCCESS
BCAS1	8537	.	GRCh37	20	52561295	52561295	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	17	0	ENST00000395961.3:c.*166A>G			ENST00000395961	NM_003657.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13444.1	.	MUTECT|MUSE	.	AGACGTAAATA	NONE	.	.	.	.	.	ENSP00000379290	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000395961	Transcript	.	.	ENSG00000064787	974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCAS1_HUMAN	BCAS1	HGNC	.	.	UPI000013D2E2	SNV	BCAS1,3_prime_UTR_variant,,ENST00000395961,;BCAS1,3_prime_UTR_variant,,ENST00000371435,;BCAS1,3_prime_UTR_variant,,ENST00000434986,;BCAS1,intron_variant,,ENST00000371440,;BCAS1,intron_variant,,ENST00000448484,;BCAS1,downstream_gene_variant,,ENST00000422805,;AC005220.3,downstream_gene_variant,,ENST00000450473,;	2088	17	10	SUCCESS
TCF15	6939	.	GRCh37	20	585096	585096	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	16	72	0	ENST00000246080.3:c.*139C>A			ENST00000246080	NM_004609.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33432.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCCCGAGGGC	NONE	.	.	.	.	.	ENSP00000246080	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000246080	Transcript	.	.	ENSG00000125878	11627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCF15_HUMAN	TCF15	HGNC	.	.	UPI000013CBD4	SNV	TCF15,3_prime_UTR_variant,,ENST00000246080,;	900	72	36	SUCCESS
TCTEX1D2	0	.	GRCh37	3	196018138	196018138	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	44	219	0	ENST00000325318.5:c.*60T>C			ENST00000325318	NM_152773.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33929.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAACAATATTA	NONE	.	.	.	.	.	ENSP00000324323	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000325318	Transcript	.	.	ENSG00000213123	28482	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TC1D2_HUMAN	TCTEX1D2	HGNC	E7ESA3_HUMAN	.	UPI000020AF09	SNV	TCTEX1D2,3_prime_UTR_variant,,ENST00000325318,;PCYT1A,upstream_gene_variant,,ENST00000431016,;PCYT1A,upstream_gene_variant,,ENST00000412869,;PCYT1A,upstream_gene_variant,,ENST00000411591,;PCYT1A,upstream_gene_variant,,ENST00000292823,;PCYT1A,upstream_gene_variant,,ENST00000441879,;PCYT1A,upstream_gene_variant,,ENST00000443555,;TCTEX1D2,non_coding_transcript_exon_variant,,ENST00000491186,;PCYT1A,upstream_gene_variant,,ENST00000491544,;TCTEX1D2,3_prime_UTR_variant,,ENST00000426563,;TCTEX1D2,3_prime_UTR_variant,,ENST00000446494,;TCTEX1D2,non_coding_transcript_exon_variant,,ENST00000465757,;RP11-447L10.1,intron_variant,,ENST00000431391,;PCYT1A,upstream_gene_variant,,ENST00000438634,;PCYT1A,upstream_gene_variant,,ENST00000444822,;PCYT1A,upstream_gene_variant,,ENST00000460677,;PCYT1A,upstream_gene_variant,,ENST00000473978,;	625	219	90	SUCCESS
ZNF330	27309	.	GRCh37	4	142155146	142155146	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	20	53	0	ENST00000262990.4:c.*3G>C			ENST00000262990	NM_014487.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3754.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGGAGCTG	NONE	.	.	.	.	.	ENSP00000262990	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262990	Transcript	.	.	ENSG00000109445	15462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN330_HUMAN	ZNF330	HGNC	D6RBS7_HUMAN,D6RBR7_HUMAN,D6R9C8_HUMAN,D6R8Y9_HUMAN	.	UPI000006E4AB	SNV	ZNF330,3_prime_UTR_variant,,ENST00000421169,;ZNF330,3_prime_UTR_variant,,ENST00000262990,;ZNF330,downstream_gene_variant,,ENST00000512738,;ZNF330,downstream_gene_variant,,ENST00000503649,;ZNF330,downstream_gene_variant,,ENST00000512809,;ZNF330,3_prime_UTR_variant,,ENST00000506302,;ZNF330,downstream_gene_variant,,ENST00000507532,;	1194	53	37	SUCCESS
C6orf57	0	.	GRCh37	6	71298522	71298522	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs543795168	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	10	73	0	ENST00000370474.3:c.*95G>A			ENST00000370474	NM_145267.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS4972.1	.	MUTECT|MUSE	.	ATGTCGTGTAG	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000359505	A:0.001	3/3	.	.	.	.	.	.	.	.	rs543795168	3/3	PASS	ENST00000370474	Transcript	.	A:0.0004	ENSG00000154079	20957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0.001	.	.	CF057_HUMAN	C6orf57	HGNC	.	.	UPI000013DD88	SNV	C6orf57,3_prime_UTR_variant,,ENST00000370474,;	446	73	27	SUCCESS
UFL1	23376	.	GRCh37	6	97001478	97001478	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	29	0	ENST00000369278.4:c.*99G>T			ENST00000369278	NM_015323.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5034.1	.	MUTECT|MUSE	.	TCCCTGCAAAA	NONE	.	.	.	.	.	ENSP00000358283	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000369278	Transcript	.	.	ENSG00000014123	23039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UFL1_HUMAN	UFL1	HGNC	B7ZAY8_HUMAN	.	UPI0000072D61	SNV	UFL1,3_prime_UTR_variant,,ENST00000369278,;	2550	29	9	SUCCESS
ASH2L	9070	.	GRCh37	8	37996714	37996714	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	26	0	ENST00000343823.6:c.*125A>G			ENST00000343823	NM_004674.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6101.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTTAAAAGG	NONE	.	.	.	.	.	ENSP00000340896	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000343823	Transcript	.	.	ENSG00000129691	744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASH2L_HUMAN	ASH2L	HGNC	F5H8F7_HUMAN	.	UPI0000038D65	SNV	ASH2L,3_prime_UTR_variant,,ENST00000545394,;ASH2L,3_prime_UTR_variant,,ENST00000250635,;ASH2L,3_prime_UTR_variant,,ENST00000428278,;ASH2L,3_prime_UTR_variant,,ENST00000521652,;ASH2L,3_prime_UTR_variant,,ENST00000343823,;ASH2L,downstream_gene_variant,,ENST00000524247,;STAR,downstream_gene_variant,,ENST00000276449,;ASH2L,3_prime_UTR_variant,,ENST00000517496,;ASH2L,non_coding_transcript_exon_variant,,ENST00000520079,;ASH2L,intron_variant,,ENST00000521808,;STAR,downstream_gene_variant,,ENST00000520114,;	2321	26	15	SUCCESS
JPH1	56704	.	GRCh37	8	75149131	75149131	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	9	0	ENST00000342232.4:c.*155A>G			ENST00000342232	NM_020647.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6217.1	.	MUTECT|MUSE	.	CCAAGTTTCAT	NONE	.	.	.	.	.	ENSP00000344488	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000342232	Transcript	.	.	ENSG00000104369	14201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JPH1_HUMAN	JPH1	HGNC	Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN	.	UPI000012DAC0	SNV	JPH1,3_prime_UTR_variant,,ENST00000342232,;JPH1,non_coding_transcript_exon_variant,,ENST00000518195,;JPH1,downstream_gene_variant,,ENST00000519947,;	2182	9	13	SUCCESS
LHX6	26468	.	GRCh37	9	124966945	124966945	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACA-01	TCGA-DD-AACA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	97	65	202	0	ENST00000373755.2:c.*94C>A			ENST00000373755	NM_001242334.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6838.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGTGGGTGG	NONE	.	.	.	.	.	ENSP00000377854	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000394319	Transcript	.	.	ENSG00000106852	21735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX6_HUMAN	LHX6	HGNC	H0YMY8_HUMAN,Q3SY65_HUMAN,H0YMH3_HUMAN	.	UPI0000E0BF7D	SNV	LHX6,3_prime_UTR_variant,,ENST00000482062,;LHX6,3_prime_UTR_variant,,ENST00000373755,;LHX6,3_prime_UTR_variant,,ENST00000464484,;LHX6,3_prime_UTR_variant,,ENST00000340587,;LHX6,3_prime_UTR_variant,,ENST00000394319,;LHX6,3_prime_UTR_variant,,ENST00000373754,;LHX6,3_prime_UTR_variant,,ENST00000559895,;LHX6,3_prime_UTR_variant,,ENST00000541397,;MORN5,downstream_gene_variant,,ENST00000373764,;MORN5,downstream_gene_variant,,ENST00000486801,;	1378	203	163	SUCCESS
OPCML	4978	.	GRCh37	11	132290055	132290055	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs759712513	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	32	68	0	ENST00000331898.7:c.*32G>A			ENST00000331898	NM_002545.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8492.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAGCAGGCG	NONE	.	.	.	.	.	ENSP00000330862	.	7/7	.	.	.	.	.	.	.	.	rs759712513	7/7	PASS	ENST00000331898	Transcript	.	.	ENSG00000183715	8143	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OPCM_HUMAN	OPCML	HGNC	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN	.	UPI0000055AE0	SNV	OPCML,3_prime_UTR_variant,,ENST00000374778,;OPCML,3_prime_UTR_variant,,ENST00000524381,;OPCML,3_prime_UTR_variant,,ENST00000331898,;OPCML,downstream_gene_variant,,ENST00000541867,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;	1649	68	62	SUCCESS
ZFPL1	7542	.	GRCh37	11	64855626	64855626	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	27	0	ENST00000294258.3:c.*40T>G			ENST00000294258	NM_006782.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8092.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGTTCTGTG	NONE	.	.	.	.	.	ENSP00000294258	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000294258	Transcript	.	.	ENSG00000162300	12868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFPL1_HUMAN	ZFPL1	HGNC	E9PQ47_HUMAN,E9PNY1_HUMAN	.	UPI000007347E	SNV	ZFPL1,3_prime_UTR_variant,,ENST00000294258,;CDCA5,upstream_gene_variant,,ENST00000275517,;TMEM262,downstream_gene_variant,,ENST00000524603,;ZFPL1,downstream_gene_variant,,ENST00000526334,;TMEM262,downstream_gene_variant,,ENST00000530719,;ZFPL1,downstream_gene_variant,,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000404147,;ZFPL1,downstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524632,;VPS51,upstream_gene_variant,,ENST00000528588,;ZFPL1,downstream_gene_variant,,ENST00000526791,;ZFPL1,downstream_gene_variant,,ENST00000526945,;ZFPL1,downstream_gene_variant,,ENST00000532200,;TMEM262,downstream_gene_variant,,ENST00000525544,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,downstream_gene_variant,,ENST00000526289,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000524733,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,downstream_gene_variant,,ENST00000533216,;CDCA5,upstream_gene_variant,,ENST00000531401,;ZFPL1,downstream_gene_variant,,ENST00000530744,;CDCA5,upstream_gene_variant,,ENST00000479032,;ZFPL1,downstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000527430,;CDCA5,upstream_gene_variant,,ENST00000462902,;ZFPL1,downstream_gene_variant,,ENST00000531761,;ZFPL1,downstream_gene_variant,,ENST00000528123,;ZFPL1,downstream_gene_variant,,ENST00000453524,;	1125	27	29	SUCCESS
KIAA0247	0	.	GRCh37	14	70177724	70177724	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs773111497	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	31	64	0	ENST00000342745.4:c.*28G>T			ENST00000342745	NM_014734.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9796.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCGAGGTT	NONE	.	.	.	.	.	ENSP00000344424	.	6/6	.	.	.	.	.	.	.	.	rs773111497	6/6	PASS	ENST00000342745	Transcript	.	.	ENSG00000100647	19956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0247_HUMAN	KIAA0247	HGNC	.	.	UPI00001394F6	SNV	KIAA0247,3_prime_UTR_variant,,ENST00000342745,;	1253	64	46	SUCCESS
LYSMD2	256586	.	GRCh37	15	52015707	52015707	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	4	47	0	ENST00000267838.3:c.*97A>G			ENST00000267838	NM_153374.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10143.1	.	MUTECT|MUSE	.	CACTATAGGAA	NONE	.	.	.	.	.	ENSP00000267838	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000267838	Transcript	.	.	ENSG00000140280	28571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYSM2_HUMAN	LYSMD2	HGNC	.	.	UPI000007469F	SNV	LYSMD2,3_prime_UTR_variant,,ENST00000558126,;LYSMD2,3_prime_UTR_variant,,ENST00000454181,;LYSMD2,3_prime_UTR_variant,,ENST00000560491,;LYSMD2,3_prime_UTR_variant,,ENST00000267838,;SCG3,downstream_gene_variant,,ENST00000542355,;SCG3,downstream_gene_variant,,ENST00000220478,;	1260	47	57	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79588959	79588959	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	15	92	0	ENST00000421388.2:c.*1725C>A			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGCTAGAA	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	3802	92	105	SUCCESS
CRYM	1428	.	GRCh37	16	21270064	21270064	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs771337760	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	42	0	ENST00000219599.3:c.*38A>C			ENST00000219599	NM_001888.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10597.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATATTCCTC	NONE	.	.	.	.	.	ENSP00000219599	.	10/10	.	.	.	.	.	.	.	.	rs771337760	10/10	PASS	ENST00000219599	Transcript	.	.	ENSG00000103316	2418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRYM_HUMAN	CRYM	HGNC	I3NI53_HUMAN,I3L3J9_HUMAN,I3L325_HUMAN,H9KVC2_HUMAN	.	UPI00001284E5	SNV	CRYM,3_prime_UTR_variant,,ENST00000396023,;CRYM,3_prime_UTR_variant,,ENST00000219599,;CRYM,3_prime_UTR_variant,,ENST00000543948,;CRYM,3_prime_UTR_variant,,ENST00000415987,;CRYM,intron_variant,,ENST00000570401,;CRYM,downstream_gene_variant,,ENST00000576703,;CRYM,intron_variant,,ENST00000574448,;CRYM,downstream_gene_variant,,ENST00000572113,;CRYM,downstream_gene_variant,,ENST00000571666,;	1249	42	34	SUCCESS
KCNJ2	3759	.	GRCh37	17	68175757	68175757	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	54	0	ENST00000243457.3:c.*3293C>A			ENST00000243457	NM_000891.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAACTCTGT	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	4960	54	74	SUCCESS
RAB40B	10966	.	GRCh37	17	80615234	80615234	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	10	0	ENST00000571995.1:c.*505T>A			ENST00000571995	NM_006822.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11816.1	.	MUTECT|MUSE	.	TACACAAACTG	NONE	.	.	.	.	.	ENSP00000461785	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000571995	Transcript	.	.	ENSG00000141542	18284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RB40B_HUMAN	RAB40B	HGNC	J3KN64_HUMAN	.	UPI0000133001	SNV	RAB40B,3_prime_UTR_variant,,ENST00000571995,;RAB40B,3_prime_UTR_variant,,ENST00000269347,;RAB40B,downstream_gene_variant,,ENST00000538809,;RAB40B,downstream_gene_variant,,ENST00000576148,;RAB40B,upstream_gene_variant,,ENST00000571880,;RAB40B,downstream_gene_variant,,ENST00000571554,;RAB40B,downstream_gene_variant,,ENST00000572603,;RAB40B,non_coding_transcript_exon_variant,,ENST00000576359,;RAB40B,downstream_gene_variant,,ENST00000574132,;RAB40B,downstream_gene_variant,,ENST00000570676,;RAB40B,downstream_gene_variant,,ENST00000573395,;	1474	10	15	SUCCESS
CETN1	1068	.	GRCh37	18	581037	581037	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	11	105	0	ENST00000327228.3:c.*110G>C			ENST00000327228	NM_004066.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11820.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTTGTCTAG	NONE	.	.	.	.	.	ENSP00000319052	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327228	Transcript	.	.	ENSG00000177143	1866	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CETN1_HUMAN	CETN1	HGNC	.	.	UPI0000127517	SNV	CETN1,3_prime_UTR_variant,,ENST00000327228,;	671	105	96	SUCCESS
ZNF440	126070	.	GRCh37	19	11945091	11945091	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs532526306	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	13	0	ENST00000304060.5:c.*1312G>A			ENST00000304060	NM_152357.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS42503.1	.	MUTECT|MUSE	.	CATGCGCCACC	NONE	byFrequency|byCluster|by1000G	.	.	A:0.0069	.	ENSP00000305373	A:0	4/4	.	.	.	.	.	.	.	.	rs532526306	4/4	PASS	ENST00000304060	Transcript	.	A:0.0014	ENSG00000171295	20874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	ZN440_HUMAN	ZNF440	HGNC	K7EJ55_HUMAN,C9JG89_HUMAN	.	UPI0000074249	SNV	ZNF440,3_prime_UTR_variant,,ENST00000304060,;ZNF440,downstream_gene_variant,,ENST00000457526,;ZNF440,downstream_gene_variant,,ENST00000588954,;ZNF440,downstream_gene_variant,,ENST00000414255,;ZNF440,downstream_gene_variant,,ENST00000427505,;	3264	13	12	SUCCESS
SLC45A3	85414	.	GRCh37	1	205628256	205628256	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	59	0	ENST00000367145.3:c.*106G>T			ENST00000367145	NM_033102.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1458.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCAGCAA	NONE	.	.	.	.	.	ENSP00000356113	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367145	Transcript	.	.	ENSG00000158715	8642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S45A3_HUMAN	SLC45A3	HGNC	Q658X7_HUMAN,A8K2U9_HUMAN	.	UPI0000039836	SNV	SLC45A3,3_prime_UTR_variant,,ENST00000367145,;SLC45A3,non_coding_transcript_exon_variant,,ENST00000460934,;	2064	59	44	SUCCESS
CTH	1491	.	GRCh37	1	70905003	70905003	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	24	0	ENST00000370938.3:c.*193G>T			ENST00000370938	NM_001902.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS650.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACAGGTCAA	NONE	.	.	.	.	.	ENSP00000359976	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000370938	Transcript	.	.	ENSG00000116761	2501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CGL_HUMAN	CTH	HGNC	.	.	UPI00001275DE	SNV	CTH,3_prime_UTR_variant,,ENST00000411986,;CTH,3_prime_UTR_variant,,ENST00000370938,;CTH,downstream_gene_variant,,ENST00000346806,;CTH,downstream_gene_variant,,ENST00000482383,;	1555	24	20	SUCCESS
SELO	0	.	GRCh37	22	50655887	50655887	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1250539545	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	45	0	ENST00000380903.2:c.*89C>T			ENST00000380903	NM_031454.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43034.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACACTGGGG	NONE	.	.	.	.	.	ENSP00000370288	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000380903	Transcript	.	.	ENSG00000073169	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SELO_HUMAN	SELO	Uniprot_gn	.	.	UPI00001B2972	SNV	SELO,3_prime_UTR_variant,,ENST00000380903,;TUBGCP6,downstream_gene_variant,,ENST00000439308,;TUBGCP6,downstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000248846,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,downstream_gene_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000498611,;	2157	45	48	SUCCESS
INHBB	3625	.	GRCh37	2	121107526	121107526	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	16	66	0	ENST00000295228.3:c.*76G>A			ENST00000295228	NM_002193.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2132.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGAACGGGGGT	NONE	.	.	.	.	.	ENSP00000295228	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295228	Transcript	.	.	ENSG00000163083	6067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	INHBB_HUMAN	INHBB	HGNC	.	.	UPI000012D427	SNV	INHBB,3_prime_UTR_variant,,ENST00000295228,;	1346	66	45	SUCCESS
PTMA	5757	.	GRCh37	2	232577746	232577746	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	29	91	0	ENST00000341369.7:c.*185G>T			ENST00000341369	NM_001099285.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42833.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTTGCAACA	NONE	.	.	.	.	.	ENSP00000344547	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,3_prime_UTR_variant,,ENST00000341369,;PTMA,3_prime_UTR_variant,,ENST00000412128,;PTMA,3_prime_UTR_variant,,ENST00000409115,;PTMA,3_prime_UTR_variant,,ENST00000409321,;PTMA,3_prime_UTR_variant,,ENST00000409683,;PTMA,downstream_gene_variant,,ENST00000410064,;PTMA,downstream_gene_variant,,ENST00000440384,;PTMA,downstream_gene_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;	712	91	83	SUCCESS
ASB5	140458	.	GRCh37	4	177136711	177136711	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	36	77	0	ENST00000296525.3:c.*40del			ENST00000296525	NM_080874.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3827.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAATAGAAATTT	NONE	.	.	.	.	.	ENSP00000296525	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000296525	Transcript	.	.	ENSG00000164122	17180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASB5_HUMAN	ASB5	HGNC	Q5HYF3_HUMAN,D6R9Q2_HUMAN	.	UPI00000015CF	deletion	ASB5,3_prime_UTR_variant,,ENST00000296525,;ASB5,downstream_gene_variant,,ENST00000512254,;	1144	77	103	SUCCESS
HSD17B11	51170	.	GRCh37	4	88258338	88258339	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs878986772	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	67	27	77	0	ENST00000358290.4:c.*89dup			ENST00000358290	NM_016245.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3619.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AATTAGAAAAA	NONE	.	.	.	.	.	ENSP00000351035	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000358290	Transcript	.	.	ENSG00000198189	22960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DHB11_HUMAN	HSD17B11	HGNC	.	.	UPI000013FB48	insertion	HSD17B11,3_prime_UTR_variant,,ENST00000358290,;HSD17B11,downstream_gene_variant,,ENST00000507286,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000512344,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000507518,;RP11-529H2.2,intron_variant,,ENST00000508163,;HSD17B11,downstream_gene_variant,,ENST00000502576,;HSD17B11,downstream_gene_variant,,ENST00000513854,;	1308-1309	77	94	SUCCESS
EHMT2	10919	.	GRCh37	6	31868141	31868141	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	29	0				ENST00000375537	NM_006709.3	314		0	.	.	.	.	.	T	G	protein_coding	YES	CCDS4727.1	942	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCCCCGC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF45	.	.	ENSP00000364677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375527	Transcript	.	.	ENSG00000204366	19066	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT12_HUMAN	ZBTB12	HGNC	.	.	UPI000000DA6C	SNV	ZBTB12,synonymous_variant,p.%3D,ENST00000375527,;C2,intron_variant,,ENST00000469372,;C2,intron_variant,,ENST00000497706,;EHMT2,upstream_gene_variant,,ENST00000375537,;EHMT2,upstream_gene_variant,,ENST00000375528,;C2,upstream_gene_variant,,ENST00000452202,;C2,upstream_gene_variant,,ENST00000452323,;EHMT2,upstream_gene_variant,,ENST00000395728,;EHMT2,upstream_gene_variant,,ENST00000375530,;EHMT2,upstream_gene_variant,,ENST00000480912,;EHMT2,upstream_gene_variant,,ENST00000465429,;	1118	29	38	SUCCESS
MOB3B	79817	.	GRCh37	9	27330565	27330565	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACB-01	TCGA-DD-AACB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	69	128	0	ENST00000262244.5:c.*20G>T			ENST00000262244	NM_024761.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6520.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTCCAAAG	NONE	.	.	.	.	.	ENSP00000262244	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262244	Transcript	.	.	ENSG00000120162	23825	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOB3B_HUMAN	MOB3B	HGNC	.	.	UPI0000047ACB	SNV	MOB3B,3_prime_UTR_variant,,ENST00000262244,;	1096	128	166	SUCCESS
OR51E1	143503	.	GRCh37	11	4676443	4676443	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	157	15	176	0	ENST00000396952.5:c.*1730T>C			ENST00000396952	NM_152430.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31358.2	.	MUTECT|MUSE|VARSCANS	.	TTGGGTATTAT	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	3337	176	172	SUCCESS
GGACT	87769	.	GRCh37	13	101184377	101184377	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1478826944	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	16	126	0	ENST00000376250.2:c.*7C>T			ENST00000376250				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45066.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGTCCCC	NONE	.	.	.	.	.	ENSP00000365426	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376250	Transcript	.	.	ENSG00000134864	25100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GGACT_HUMAN	GGACT	HGNC	M0R217_HUMAN,M0R0M3_HUMAN	.	UPI00001BBFA6	SNV	GGACT,3_prime_UTR_variant,,ENST00000455100,;GGACT,3_prime_UTR_variant,,ENST00000376250,;PCCA,downstream_gene_variant,,ENST00000376286,;PCCA,downstream_gene_variant,,ENST00000428969,;GGACT,downstream_gene_variant,,ENST00000467518,;PCCA,downstream_gene_variant,,ENST00000458283,;GGACT,downstream_gene_variant,,ENST00000471912,;PCCA,downstream_gene_variant,,ENST00000376285,;PCCA,downstream_gene_variant,,ENST00000376279,;GGACT,downstream_gene_variant,,ENST00000464500,;GGACT,downstream_gene_variant,,ENST00000492399,;RP11-151A6.4,downstream_gene_variant,,ENST00000454752,;	864	126	123	SUCCESS
MYO16	23026	.	GRCh37	13	109859260	109859260	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	7	42	0	ENST00000356711.2:c.*76G>T			ENST00000356711	NM_015011.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32008.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGACATG	NONE	.	.	.	.	.	ENSP00000349145	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000356711	Transcript	.	.	ENSG00000041515	29822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYO16_HUMAN	MYO16	HGNC	.	.	UPI0000160FF2	SNV	MYO16,3_prime_UTR_variant,,ENST00000356711,;MYO16,3_prime_UTR_variant,,ENST00000357550,;	5779	42	46	SUCCESS
MAP2K1	5604	.	GRCh37	15	66783072	66783072	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	21	0	ENST00000307102.5:c.*119A>G			ENST00000307102	NM_002755.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10216.1	.	MUTECT|MUSE	.	GATGAAGAACA	NONE	.	.	.	.	.	ENSP00000302486	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000307102	Transcript	1	.	ENSG00000169032	6840	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MP2K1_HUMAN	MAP2K1	HGNC	A4QPA9_HUMAN	.	UPI000013EBC9	SNV	MAP2K1,3_prime_UTR_variant,,ENST00000307102,;MAP2K1,3_prime_UTR_variant,,ENST00000566326,;SNAPC5,intron_variant,,ENST00000395589,;SNAPC5,intron_variant,,ENST00000563480,;SNAPC5,downstream_gene_variant,,ENST00000307979,;SNAPC5,downstream_gene_variant,,ENST00000316634,;SNAPC5,downstream_gene_variant,,ENST00000566658,;CTD-3185P2.1,intron_variant,,ENST00000565387,;CTD-3185P2.2,upstream_gene_variant,,ENST00000602360,;SNAPC5,intron_variant,,ENST00000562411,;SNAPC5,downstream_gene_variant,,ENST00000568875,;SNAPC5,downstream_gene_variant,,ENST00000565465,;	1832	21	23	SUCCESS
CDH11	1009	.	GRCh37	16	64981378	64981378	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	37	0	ENST00000268603.4:c.*128G>T			ENST00000268603	NM_001797.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10803.1	.	MUTECT|MUSE	.	TGTATCCTCTC	NONE	.	.	.	.	.	ENSP00000268603	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000268603	Transcript	.	.	ENSG00000140937	1750	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD11_HUMAN	CDH11	HGNC	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN	.	UPI000013D7C5	SNV	CDH11,3_prime_UTR_variant,,ENST00000394156,;CDH11,3_prime_UTR_variant,,ENST00000268603,;CDH11,downstream_gene_variant,,ENST00000566827,;	3135	37	43	SUCCESS
ERG	2078	.	GRCh37	21	39755298	39755298	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	14	101	0	ENST00000288319.7:c.*27G>T			ENST00000288319	NM_182918.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46648.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCACGCTGATG	NONE	.	.	.	.	.	ENSP00000414150	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000417133	Transcript	.	.	ENSG00000157554	3446	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERG_HUMAN	ERG	HGNC	Q16031_HUMAN,B4DVX5_HUMAN	.	UPI000018681C	SNV	ERG,3_prime_UTR_variant,,ENST00000398897,;ERG,3_prime_UTR_variant,,ENST00000453032,;ERG,3_prime_UTR_variant,,ENST00000398910,;ERG,3_prime_UTR_variant,,ENST00000288319,;ERG,3_prime_UTR_variant,,ENST00000442448,;ERG,3_prime_UTR_variant,,ENST00000398919,;ERG,3_prime_UTR_variant,,ENST00000398905,;ERG,3_prime_UTR_variant,,ENST00000417133,;ERG,3_prime_UTR_variant,,ENST00000398911,;ERG,3_prime_UTR_variant,,ENST00000398907,;	1674	101	98	SUCCESS
NDUFAF3	25915	.	GRCh37	3	49060733	49060733	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	2	22	0	ENST00000326925.6:c.*128G>C			ENST00000326925	NM_199069.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2784.1	.	MUTECT|MUSE	.	ATCAGGTGTGT	NONE	.	.	.	.	.	ENSP00000323076	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000326925	Transcript	.	.	ENSG00000178057	29918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUF3_HUMAN	NDUFAF3	HGNC	A4FU71_HUMAN	.	UPI000003427D	SNV	NDUFAF3,3_prime_UTR_variant,,ENST00000326925,;IMPDH2,downstream_gene_variant,,ENST00000326739,;DALRD3,upstream_gene_variant,,ENST00000313778,;IMPDH2,downstream_gene_variant,,ENST00000429182,;DALRD3,upstream_gene_variant,,ENST00000441576,;IMPDH2,downstream_gene_variant,,ENST00000442157,;DALRD3,upstream_gene_variant,,ENST00000341949,;DALRD3,upstream_gene_variant,,ENST00000395462,;NDUFAF3,downstream_gene_variant,,ENST00000395458,;NDUFAF3,downstream_gene_variant,,ENST00000451378,;NDUFAF3,downstream_gene_variant,,ENST00000326912,;DALRD3,upstream_gene_variant,,ENST00000440857,;DALRD3,upstream_gene_variant,,ENST00000420952,;MIR191,upstream_gene_variant,,ENST00000384873,;MIR425,upstream_gene_variant,,ENST00000362162,;DALRD3,upstream_gene_variant,,ENST00000492585,;DALRD3,upstream_gene_variant,,ENST00000496568,;IMPDH2,downstream_gene_variant,,ENST00000463903,;IMPDH2,downstream_gene_variant,,ENST00000484872,;IMPDH2,downstream_gene_variant,,ENST00000481274,;DALRD3,upstream_gene_variant,,ENST00000484831,;IMPDH2,downstream_gene_variant,,ENST00000491610,;IMPDH2,downstream_gene_variant,,ENST00000466147,;IMPDH2,downstream_gene_variant,,ENST00000485500,;IMPDH2,downstream_gene_variant,,ENST00000496837,;IMPDH2,downstream_gene_variant,,ENST00000472328,;NDUFAF3,downstream_gene_variant,,ENST00000480392,;DALRD3,upstream_gene_variant,,ENST00000460505,;IMPDH2,downstream_gene_variant,,ENST00000462980,;NDUFAF3,downstream_gene_variant,,ENST00000496152,;DALRD3,upstream_gene_variant,,ENST00000498794,;	1817	22	20	SUCCESS
ANK2	287	.	GRCh37	4	114302705	114302705	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	4	79	0	ENST00000357077.4:c.*78C>T			ENST00000357077	NM_001148.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3702.1	.	MUTECT|MUSE	.	TGTACCAGAAG	NONE	.	.	.	.	.	ENSP00000349588	.	46/46	.	.	.	.	.	.	.	.	.	46/46	PASS	ENST00000357077	Transcript	1	.	ENSG00000145362	493	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANK2_HUMAN	ANK2	HGNC	D6RHC5_HUMAN	.	UPI0000441EF3	SNV	ANK2,missense_variant,p.Pro168Leu,ENST00000506344,;ANK2,3_prime_UTR_variant,,ENST00000514960,;ANK2,3_prime_UTR_variant,,ENST00000394537,;ANK2,3_prime_UTR_variant,,ENST00000509550,;ANK2,3_prime_UTR_variant,,ENST00000506722,;ANK2,3_prime_UTR_variant,,ENST00000510275,;ANK2,3_prime_UTR_variant,,ENST00000357077,;ANK2,3_prime_UTR_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000264366,;ANK2,downstream_gene_variant,,ENST00000514167,;	12005	79	87	SUCCESS
DCK	1633	.	GRCh37	4	71895326	71895326	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	14	0	ENST00000286648.5:c.*231G>T			ENST00000286648	NM_000788.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3548.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATAGCAGGA	NONE	.	.	.	.	.	ENSP00000286648	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000286648	Transcript	.	.	ENSG00000156136	2704	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DCK_HUMAN	DCK	HGNC	F5CTF3_HUMAN,B4E0A5_HUMAN	.	UPI0000128FC6	SNV	DCK,3_prime_UTR_variant,,ENST00000286648,;DCK,3_prime_UTR_variant,,ENST00000504952,;DCK,3_prime_UTR_variant,,ENST00000504730,;DCK,3_prime_UTR_variant,,ENST00000503359,;DCK,downstream_gene_variant,,ENST00000509764,;	1411	14	14	SUCCESS
DOCK2	1794	.	GRCh37	5	169509947	169509947	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	35	0	ENST00000256935.8:c.*85A>G			ENST00000256935	NM_004946.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4371.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCAGAGAG	NONE	.	.	.	.	.	ENSP00000256935	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,3_prime_UTR_variant,,ENST00000540750,;DOCK2,3_prime_UTR_variant,,ENST00000256935,;DOCK2,3_prime_UTR_variant,,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;DOCK2,downstream_gene_variant,,ENST00000524185,;	5658	35	31	SUCCESS
CANX	821	.	GRCh37	5	179155749	179155749	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs748124474	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	36	119	0	ENST00000247461.4:c.*104C>A			ENST00000247461	NM_001746.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4447.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTCAAGAC	NONE	byFrequency	.	.	.	.	ENSP00000247461	.	15/15	.	.	.	.	.	.	.	.	rs748124474	15/15	PASS	ENST00000247461	Transcript	.	.	ENSG00000127022	1473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CALX_HUMAN	CANX	HGNC	D6RHJ3_HUMAN,D6RFW4_HUMAN,D6RFL1_HUMAN,D6RDP7_HUMAN,D6RB85_HUMAN,D6RAU8_HUMAN,D6RAQ8_HUMAN,B4E2T8_HUMAN	.	UPI000000D9F9	SNV	CANX,3_prime_UTR_variant,,ENST00000247461,;CANX,3_prime_UTR_variant,,ENST00000415618,;CANX,3_prime_UTR_variant,,ENST00000504734,;CANX,3_prime_UTR_variant,,ENST00000452673,;CANX,downstream_gene_variant,,ENST00000512607,;MAML1,upstream_gene_variant,,ENST00000292599,;CANX,intron_variant,,ENST00000503303,;MAML1,upstream_gene_variant,,ENST00000503050,;CANX,downstream_gene_variant,,ENST00000514032,;CANX,downstream_gene_variant,,ENST00000505090,;	2083	119	130	SUCCESS
RNF182	221687	.	GRCh37	6	13979931	13979931	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs939738822	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	13	87	0	ENST00000488300.1:c.*1837A>T			ENST00000488300	NM_152737.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4531.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAAAAAA	NONE	.	.	.	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	SNV	RNF182,3_prime_UTR_variant,,ENST00000537663,;RNF182,3_prime_UTR_variant,,ENST00000544682,;RNF182,3_prime_UTR_variant,,ENST00000488300,;RNF182,3_prime_UTR_variant,,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000488763,;	3104	87	93	SUCCESS
SRPK2	6733	.	GRCh37	7	104758262	104758262	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	49	0	ENST00000357311.3:c.*23C>A			ENST00000357311	NM_182691.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34724.1	.	MUTECT|MUSE|VARSCANS	.	GCTCAGAATGC	NONE	.	.	.	.	.	ENSP00000377262	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000393651	Transcript	.	.	ENSG00000135250	11306	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SRPK2_HUMAN	SRPK2	HGNC	.	.	UPI00001A4785	SNV	SRPK2,3_prime_UTR_variant,,ENST00000474770,;SRPK2,3_prime_UTR_variant,,ENST00000393651,;SRPK2,3_prime_UTR_variant,,ENST00000489828,;SRPK2,3_prime_UTR_variant,,ENST00000477925,;SRPK2,3_prime_UTR_variant,,ENST00000357311,;KMT2E,downstream_gene_variant,,ENST00000257745,;KMT2E,downstream_gene_variant,,ENST00000311117,;KMT2E,downstream_gene_variant,,ENST00000334877,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,upstream_gene_variant,,ENST00000493638,;SRPK2,3_prime_UTR_variant,,ENST00000465072,;SRPK2,non_coding_transcript_exon_variant,,ENST00000466917,;KMT2E,downstream_gene_variant,,ENST00000334884,;	2211	49	44	SUCCESS
GPRASP1	9737	.	GRCh37	X	101913776	101913776	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACC-01	TCGA-DD-AACC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	128	54	179	0	ENST00000361600.5:c.*747G>C			ENST00000361600	NM_014710.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35352.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAAAGGGCAA	NONE	.	.	.	.	.	ENSP00000445683	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000537097	Transcript	.	.	ENSG00000198932	24834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GASP1_HUMAN	GPRASP1	HGNC	.	.	UPI0000073B80	SNV	GPRASP1,3_prime_UTR_variant,,ENST00000415986,;GPRASP1,3_prime_UTR_variant,,ENST00000361600,;GPRASP1,3_prime_UTR_variant,,ENST00000537097,;GPRASP1,3_prime_UTR_variant,,ENST00000444152,;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000602463,;RP4-769N13.6,intron_variant,,ENST00000602366,;	5748	179	183	SUCCESS
ZNF22	7570	.	GRCh37	10	45499848	45499848	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	73	0	ENST00000298299.3:c.*357A>G			ENST00000298299	NM_006963.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7211.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAAAGTGCA	NONE	.	.	.	.	.	ENSP00000298299	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298299	Transcript	.	.	ENSG00000165512	13012	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF22_HUMAN	ZNF22	HGNC	.	.	UPI0000001C08	SNV	ZNF22,3_prime_UTR_variant,,ENST00000298299,;C10orf25,upstream_gene_variant,,ENST00000298298,;CEP164P1,intron_variant,,ENST00000456938,;	1625	73	68	SUCCESS
EIF5AL1	143244	.	GRCh37	10	81273913	81273913	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	212	32	268	0	ENST00000520547.2:c.*1043T>C			ENST00000520547	NM_001099692.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53546.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCCATGACTG	NONE	.	.	.	.	.	ENSP00000430706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000520547	Transcript	.	.	ENSG00000253626	17419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IF5AL_HUMAN	EIF5AL1	HGNC	.	.	UPI00001972AD	SNV	EIF5AL1,3_prime_UTR_variant,,ENST00000520547,;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;	1557	268	244	SUCCESS
SNW1	22938	.	GRCh37	14	78184378	78184378	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs753689116	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	10	38	0	ENST00000261531.7:c.*53A>C			ENST00000261531	NM_012245.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9867.1	.	RADIA|MUTECT|MUSE	.	ATGACTTGCAT	NONE	.	.	.	.	.	ENSP00000261531	.	14/14	.	.	.	.	.	.	.	.	rs753689116	14/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,3_prime_UTR_variant,,ENST00000554775,;SNW1,3_prime_UTR_variant,,ENST00000555761,;SNW1,3_prime_UTR_variant,,ENST00000261531,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557623,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,downstream_gene_variant,,ENST00000557342,;SLIRP,downstream_gene_variant,,ENST00000238688,;SLIRP,downstream_gene_variant,,ENST00000556831,;SLIRP,downstream_gene_variant,,ENST00000553981,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SLIRP,intron_variant,,ENST00000556310,;SLIRP,downstream_gene_variant,,ENST00000556956,;SLIRP,downstream_gene_variant,,ENST00000555890,;	1727	38	43	SUCCESS
SNW1	22938	.	GRCh37	14	78184406	78184406	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	50	0	ENST00000261531.7:c.*25A>C			ENST00000261531	NM_012245.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9867.1	.	RADIA|MUTECT|MUSE	.	AGAGTTCATTC	NONE	.	.	.	.	.	ENSP00000261531	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000261531	Transcript	.	.	ENSG00000100603	16696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SNW1_HUMAN	SNW1	HGNC	G3V4X8_HUMAN	.	UPI000000DB2D	SNV	SNW1,stop_lost,p.Ter572CysextTer?,ENST00000555761,;SNW1,3_prime_UTR_variant,,ENST00000554775,;SNW1,3_prime_UTR_variant,,ENST00000261531,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,intron_variant,,ENST00000557623,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,downstream_gene_variant,,ENST00000557342,;SLIRP,downstream_gene_variant,,ENST00000238688,;SLIRP,downstream_gene_variant,,ENST00000556831,;SLIRP,downstream_gene_variant,,ENST00000553981,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SLIRP,intron_variant,,ENST00000556310,;SLIRP,downstream_gene_variant,,ENST00000556956,;SLIRP,downstream_gene_variant,,ENST00000555890,;	1699	50	46	SUCCESS
C15orf40	123207	.	GRCh37	15	83673758	83673758	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	29	76	0	ENST00000304177.5:c.*591T>G			ENST00000304177	NM_144597.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53969.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAATGAAA	NONE	.	.	.	.	.	ENSP00000403987	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451195	Transcript	.	.	ENSG00000169609	28443	.	.	MODIFIER	3/4	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO040_HUMAN	C15orf40	HGNC	.	.	UPI0001A48FB7	SNV	C15orf40,3_prime_UTR_variant,,ENST00000513601,;C15orf40,3_prime_UTR_variant,,ENST00000304177,;C15orf40,intron_variant,,ENST00000508990,;C15orf40,intron_variant,,ENST00000514272,;C15orf40,intron_variant,,ENST00000510873,;C15orf40,intron_variant,,ENST00000451195,;C15orf40,intron_variant,,ENST00000538348,;C15orf40,downstream_gene_variant,,ENST00000565712,;RP11-382A20.5,intron_variant,,ENST00000566841,;C15orf40,intron_variant,,ENST00000563387,;C15orf40,intron_variant,,ENST00000512638,;C15orf40,downstream_gene_variant,,ENST00000565725,;C15orf40,downstream_gene_variant,,ENST00000506912,;C15orf40,downstream_gene_variant,,ENST00000505341,;	.	76	72	SUCCESS
LCE3E	353145	.	GRCh37	1	152538316	152538316	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	14	47	0	ENST00000368789.1:c.*90A>G			ENST00000368789	NM_178435.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1013.1	.	RADIA|MUTECT|MUSE	.	GTATATGGGAA	NONE	.	.	.	.	.	ENSP00000357778	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368789	Transcript	.	.	ENSG00000185966	29463	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LCE3E_HUMAN	LCE3E	HGNC	.	.	UPI00001927D0	SNV	LCE3E,3_prime_UTR_variant,,ENST00000368789,;	425	47	56	SUCCESS
RNF207	388591	.	GRCh37	1	6279714	6279714	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	22	0	ENST00000377939.4:c.*247C>A			ENST00000377939	NM_207396.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59.2	.	MUTECT|MUSE	.	CGCCCCGCTAA	NONE	.	.	.	.	.	ENSP00000367173	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000377939	Transcript	.	.	ENSG00000158286	32947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN207_HUMAN	RNF207	HGNC	.	.	UPI0000F0A526	SNV	RNF207,3_prime_UTR_variant,,ENST00000377948,;RNF207,3_prime_UTR_variant,,ENST00000377939,;ICMT,downstream_gene_variant,,ENST00000343813,;RNF207,downstream_gene_variant,,ENST00000483336,;ICMT,downstream_gene_variant,,ENST00000495791,;RNF207,non_coding_transcript_exon_variant,,ENST00000496676,;ICMT,downstream_gene_variant,,ENST00000489498,;ICMT,downstream_gene_variant,,ENST00000474756,;	2279	22	24	SUCCESS
RNF207	388591	.	GRCh37	1	6279719	6279719	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	22	0	ENST00000377939.4:c.*252A>T			ENST00000377939	NM_207396.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59.2	.	MUTECT|MUSE	.	CGCTAATTTTT	NONE	.	.	.	.	.	ENSP00000367173	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000377939	Transcript	.	.	ENSG00000158286	32947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN207_HUMAN	RNF207	HGNC	.	.	UPI0000F0A526	SNV	RNF207,3_prime_UTR_variant,,ENST00000377948,;RNF207,3_prime_UTR_variant,,ENST00000377939,;ICMT,downstream_gene_variant,,ENST00000343813,;RNF207,downstream_gene_variant,,ENST00000483336,;ICMT,downstream_gene_variant,,ENST00000495791,;RNF207,non_coding_transcript_exon_variant,,ENST00000496676,;ICMT,downstream_gene_variant,,ENST00000489498,;ICMT,downstream_gene_variant,,ENST00000474756,;	2284	22	23	SUCCESS
SRRD	402055	.	GRCh37	22	26890556	26890556	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	10	0	ENST00000215917.7:c.*2918A>T			ENST00000215917	NM_001013694.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42995.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATAAAGCAA	NONE	.	.	.	.	.	ENSP00000215917	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000215917	Transcript	.	.	ENSG00000100104	33910	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRR1L_HUMAN	SRRD	HGNC	.	.	UPI00000723CF	SNV	SRRD,3_prime_UTR_variant,,ENST00000215917,;TFIP11,intron_variant,,ENST00000407431,;TFIP11,intron_variant,,ENST00000407148,;TFIP11,intron_variant,,ENST00000407690,;TFIP11,intron_variant,,ENST00000405938,;TFIP11,downstream_gene_variant,,ENST00000450493,;TFIP11,downstream_gene_variant,,ENST00000496523,;TFIP11,non_coding_transcript_exon_variant,,ENST00000492137,;TFIP11,downstream_gene_variant,,ENST00000481357,;SRRD,downstream_gene_variant,,ENST00000477945,;SRRD,downstream_gene_variant,,ENST00000471799,;	3952	10	13	SUCCESS
B3GNT2	10678	.	GRCh37	2	62451833	62451833	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	318	150	472	0	ENST00000301998.4:c.*1284A>G			ENST00000301998	NM_006577.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1870.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTATAAAC	NONE	.	.	.	.	.	ENSP00000305595	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000301998	Transcript	.	.	ENSG00000170340	15629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GN2_HUMAN	B3GNT2	HGNC	.	.	UPI00000009FB	SNV	B3GNT2,3_prime_UTR_variant,,ENST00000301998,;B3GNT2,downstream_gene_variant,,ENST00000405767,;	2730	472	468	SUCCESS
C3orf35	339883	.	GRCh37	3	37476664	37476664	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	43	0	ENST00000328376.5:c.*44del			ENST00000328376	NM_178339.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43065.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACATCCTTATAT	NONE	.	.	.	.	.	ENSP00000331625	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000328376	Transcript	.	.	ENSG00000198590	24082	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	APRG1_HUMAN	C3orf35	HGNC	.	.	UPI0000199616	deletion	C3orf35,3_prime_UTR_variant,,ENST00000328376,;C3orf35,non_coding_transcript_exon_variant,,ENST00000466204,;C3orf35,non_coding_transcript_exon_variant,,ENST00000481400,;C3orf35,3_prime_UTR_variant,,ENST00000332506,;	1535	43	51	SUCCESS
MYOZ3	91977	.	GRCh37	5	150036328	150036328	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	9	0				ENST00000297130	NM_133371.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54937.1	.	MUTECT|MUSE	.	CCGCCCCCGCC	NONE	.	2534	.	.	.	ENSP00000377789	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000394243	Transcript	.	.	ENSG00000171992	30672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNPO_HUMAN	SYNPO	HGNC	Q71HJ6_HUMAN	.	UPI000013F943	SNV	SYNPO,synonymous_variant,p.%3D,ENST00000307662,;MYOZ3,upstream_gene_variant,,ENST00000297130,;SYNPO,downstream_gene_variant,,ENST00000519664,;SYNPO,downstream_gene_variant,,ENST00000394243,;SYNPO,downstream_gene_variant,,ENST00000522122,;MYOZ3,upstream_gene_variant,,ENST00000517768,;	.	9	15	SUCCESS
LCP2	3937	.	GRCh37	5	169675638	169675638	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	27	62	0	ENST00000046794.5:c.*63C>T			ENST00000046794	NM_005565.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47339.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGGCTGAT	NONE	.	.	.	.	.	ENSP00000046794	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,3_prime_UTR_variant,,ENST00000521416,;LCP2,3_prime_UTR_variant,,ENST00000046794,;C5orf58,downstream_gene_variant,,ENST00000521850,;C5orf58,downstream_gene_variant,,ENST00000593851,;C5orf58,intron_variant,,ENST00000517575,;C5orf58,downstream_gene_variant,,ENST00000518395,;LCP2,non_coding_transcript_exon_variant,,ENST00000520322,;C5orf58,intron_variant,,ENST00000524171,;C5orf58,downstream_gene_variant,,ENST00000421269,;	2281	62	95	SUCCESS
IRX2	153572	.	GRCh37	5	2747494	2747494	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	11	0	ENST00000302057.5:c.*184T>C			ENST00000302057	NM_033267.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3868.1	.	MUTECT|MUSE	.	AATCTATAAAA	NONE	.	.	.	.	.	ENSP00000372056	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382611	Transcript	.	.	ENSG00000170561	14359	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRX2_HUMAN	IRX2	HGNC	.	.	UPI00001B6456	SNV	IRX2,3_prime_UTR_variant,,ENST00000302057,;IRX2,intron_variant,,ENST00000382611,;C5orf38,upstream_gene_variant,,ENST00000334000,;C5orf38,upstream_gene_variant,,ENST00000457752,;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000515640,;IRX2,downstream_gene_variant,,ENST00000502957,;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	.	11	13	SUCCESS
PFDN6	10471	.	GRCh37	6	33259901	33259901	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	78	0				ENST00000374606	NM_001185181.2	771		0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS4774.1	2312	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCTTCCTC	NONE	.	.	.	.	.	ENSP00000420211	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000497454	Transcript	.	.	ENSG00000237441	9769	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.968)	.	deleterious(0)	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,missense_variant,p.Lys771Thr,ENST00000497454,;PFDN6,intron_variant,,ENST00000463584,;RGL2,downstream_gene_variant,,ENST00000425946,;WDR46,upstream_gene_variant,,ENST00000444176,;WDR46,upstream_gene_variant,,ENST00000374617,;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374607,;PFDN6,downstream_gene_variant,,ENST00000374610,;RGL2,downstream_gene_variant,,ENST00000444031,;PFDN6,downstream_gene_variant,,ENST00000374606,;RGL2,non_coding_transcript_exon_variant,,ENST00000471319,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;WDR46,upstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000485077,;WDR46,upstream_gene_variant,,ENST00000468157,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;WDR46,upstream_gene_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000478610,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;RGL2,downstream_gene_variant,,ENST00000494550,;WDR46,upstream_gene_variant,,ENST00000488944,;PFDN6,downstream_gene_variant,,ENST00000491382,;RGL2,downstream_gene_variant,,ENST00000476616,;WDR46,upstream_gene_variant,,ENST00000489905,;	2808	78	99	SUCCESS
RSBN1L	222194	.	GRCh37	7	77408705	77408705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	38	0	ENST00000334955.8:c.*220T>A			ENST00000334955	NM_198467.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43607.1	.	MUTECT|MUSE	.	GTCTTTAAAAA	NONE	.	.	.	.	.	ENSP00000334040	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334955	Transcript	.	.	ENSG00000187257	24765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSBNL_HUMAN	RSBN1L	HGNC	C9JM20_HUMAN	.	UPI000020F469	SNV	RSBN1L,3_prime_UTR_variant,,ENST00000334955,;RSBN1L,3_prime_UTR_variant,,ENST00000445288,;RSBN1L,downstream_gene_variant,,ENST00000441514,;RSBN1L,downstream_gene_variant,,ENST00000445512,;	2788	38	48	SUCCESS
KLF4	9314	.	GRCh37	9	110247985	110247985	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs367790781	.	TCGA-DD-AACD-01	TCGA-DD-AACD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	58	0	ENST00000374672.4:c.*47A>G			ENST00000374672	NM_004235.4			0	C:0	.	.	.	.	C	.	protein_coding	YES	CCDS6770.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAATACTGA	NONE	byCluster	.	.	.	C:0.0001	ENSP00000363804	.	5/5	.	.	.	.	.	.	.	.	rs367790781	5/5	PASS	ENST00000374672	Transcript	.	.	ENSG00000136826	6348	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLF4_HUMAN	KLF4	HGNC	Q5T3J6_HUMAN,L0R3V2_HUMAN,B7ZBT2_HUMAN,B7ZBT1_HUMAN	.	UPI0000375189	SNV	KLF4,3_prime_UTR_variant,,ENST00000374672,;KLF4,downstream_gene_variant,,ENST00000420475,;KLF4,downstream_gene_variant,,ENST00000411706,;KLF4,non_coding_transcript_exon_variant,,ENST00000493306,;KLF4,non_coding_transcript_exon_variant,,ENST00000497048,;	1961	58	45	SUCCESS
MUC19	283463	.	GRCh37	12	40964311	40964311	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs986819918	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	117	0	ENST00000454784.4:c.*7751C>T			ENST00000454784				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGCCGAGAA	NONE	.	.	.	.	.	ENSP00000476404	.	84/84	.	.	.	.	.	.	.	.	.	84/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000427572,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,3_prime_UTR_variant,,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000546043,;	19377	117	105	SUCCESS
SOCS4	122809	.	GRCh37	14	55515928	55515930	+	3_prime_UTR_variant	3'UTR	DEL	AGG	AGG	-	rs1161685966	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	127	0	ENST00000339298.2:c.*4849_*4851del			ENST00000339298				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9722.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTCAAGGAGGTT	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	3	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	deletion	SOCS4,3_prime_UTR_variant,,ENST00000339298,;SOCS4,3_prime_UTR_variant,,ENST00000395472,;MAPK1IP1L,upstream_gene_variant,,ENST00000395468,;SOCS4,downstream_gene_variant,,ENST00000555846,;MAPK1IP1L,upstream_gene_variant,,ENST00000554364,;MAPK1IP1L,upstream_gene_variant,,ENST00000556515,;	6501-6503	127	101	SUCCESS
FLRT2	23768	.	GRCh37	14	86092606	86092606	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	100	0	ENST00000330753.4:c.*2765T>A			ENST00000330753	NM_013231.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTCATGGGAA	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,downstream_gene_variant,,ENST00000553650,;	5515	100	66	SUCCESS
RN7SL495P	106479404	.	GRCh37	15	23260819	23260819	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs751158688	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	414	68	564	0				ENST00000461817		200		0	.	.	.	.	.	A	S/R	protein_coding	YES	.	600	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGCCCCAG	NONE	.	.	hmmpanther:PTHR10881	.	.	ENSP00000399637	.	9/19	.	.	.	.	.	.	.	.	rs751158688	9/19	PASS	ENST00000450802	Transcript	.	.	ENSG00000153666	26660	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.937)	.	deleterious(0.04)	.	GOG8I_HUMAN	GOLGA8I	HGNC	.	.	UPI0000E59B79	SNV	GOLGA8I,missense_variant,p.Ser200Arg,ENST00000450802,;AC091565.1,upstream_gene_variant,,ENST00000459619,;RN7SL495P,upstream_gene_variant,,ENST00000461817,;GOLGA8I,non_coding_transcript_exon_variant,,ENST00000339078,;	698	564	482	SUCCESS
TBC1D10B	26000	.	GRCh37	16	30369226	30369226	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	28	0	ENST00000409939.3:c.*39C>A			ENST00000409939	NM_015527.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10676.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGAAAGA	NONE	.	.	.	.	.	ENSP00000386538	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000409939	Transcript	.	.	ENSG00000169221	24510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TB10B_HUMAN	TBC1D10B	HGNC	.	.	UPI000164FA1A	SNV	TBC1D10B,3_prime_UTR_variant,,ENST00000409939,;TBC1D10B,downstream_gene_variant,,ENST00000490703,;CD2BP2,upstream_gene_variant,,ENST00000305596,;CD2BP2,upstream_gene_variant,,ENST00000569466,;RP11-347C12.10,downstream_gene_variant,,ENST00000563252,;TBC1D10B,non_coding_transcript_exon_variant,,ENST00000478158,;TBC1D10B,non_coding_transcript_exon_variant,,ENST00000475650,;TBC1D10B,downstream_gene_variant,,ENST00000566671,;CD2BP2,upstream_gene_variant,,ENST00000564525,;TBC1D10B,downstream_gene_variant,,ENST00000464644,;TBC1D10B,downstream_gene_variant,,ENST00000475872,;	2547	28	28	SUCCESS
CPLX4	339302	.	GRCh37	18	56963750	56963750	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	25	0	ENST00000299721.3:c.*180C>T			ENST00000299721	NM_181654.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11973.1	.	MUTECT|MUSE	.	TGCAAGGTGTT	NONE	.	.	.	.	.	ENSP00000299721	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000299721	Transcript	.	.	ENSG00000166569	24330	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPLX4_HUMAN	CPLX4	HGNC	F1T0L6_HUMAN	.	UPI000013E5DC	SNV	CPLX4,3_prime_UTR_variant,,ENST00000299721,;CPLX4,intron_variant,,ENST00000587244,;	850	25	18	SUCCESS
TSHZ3	57616	.	GRCh37	19	31767266	31767266	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	28	0	ENST00000240587.4:c.*187T>C			ENST00000240587	NM_020856.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12421.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCAGTAAC	NONE	.	.	.	.	.	ENSP00000240587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000240587	Transcript	.	.	ENSG00000121297	30700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSH3_HUMAN	TSHZ3	HGNC	A1L0U7_HUMAN	.	UPI0000202000	SNV	TSHZ3,3_prime_UTR_variant,,ENST00000240587,;TSHZ3,downstream_gene_variant,,ENST00000560707,;	3761	28	17	SUCCESS
ZNF444	55311	.	GRCh37	19	56671571	56671571	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	29	0	ENST00000337080.3:c.*1C>T			ENST00000337080	NM_018337.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12939.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTAGCCGCCT	NONE	.	.	.	.	.	ENSP00000338860	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337080	Transcript	.	.	ENSG00000167685	16052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN444_HUMAN	ZNF444	HGNC	K7ESL2_HUMAN,K7EMV5_HUMAN,K7ELZ3_HUMAN,K7EK55_HUMAN,K7EJH4_HUMAN,K7EJ91_HUMAN	.	UPI000006D7BC	SNV	ZNF444,3_prime_UTR_variant,,ENST00000592949,;ZNF444,3_prime_UTR_variant,,ENST00000337080,;ZNF444,downstream_gene_variant,,ENST00000587664,;ZNF444,downstream_gene_variant,,ENST00000592171,;ZNF444,downstream_gene_variant,,ENST00000587195,;ZNF444,non_coding_transcript_exon_variant,,ENST00000587236,;	1352	29	21	SUCCESS
MEGF6	1953	.	GRCh37	1	3406952	3406952	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs541867645	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	34	0	ENST00000356575.4:c.*140C>A			ENST00000356575	NM_001409.3			0	.	A:0	.	A:0	.	T	.	protein_coding	YES	CCDS41237.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGTCCAC	NONE	by1000G	.	.	A:0.001	.	ENSP00000348982	A:0	37/37	.	.	.	.	.	.	.	.	rs541867645	37/37	PASS	ENST00000356575	Transcript	.	A:0.0002	ENSG00000162591	3232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	MEGF6_HUMAN	MEGF6	HGNC	.	.	UPI0000DACACB	SNV	MEGF6,3_prime_UTR_variant,,ENST00000356575,;MEGF6,3_prime_UTR_variant,,ENST00000294599,;MEGF6,downstream_gene_variant,,ENST00000491842,;RP11-168F9.2,downstream_gene_variant,,ENST00000606489,;MEGF6,non_coding_transcript_exon_variant,,ENST00000494257,;MEGF6,downstream_gene_variant,,ENST00000475790,;MEGF6,downstream_gene_variant,,ENST00000485002,;MEGF6,downstream_gene_variant,,ENST00000461795,;	4993	34	42	SUCCESS
LAMP5	24141	.	GRCh37	20	9510476	9510476	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	41	93	0	ENST00000246070.2:c.*9A>T			ENST00000246070	NM_012261.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13106.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTTAGGCAG	NONE	.	.	.	.	.	ENSP00000246070	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,3_prime_UTR_variant,,ENST00000246070,;LAMP5,3_prime_UTR_variant,,ENST00000427562,;	1344	93	76	SUCCESS
POU1F1	5449	.	GRCh37	3	87308891	87308891	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	18	0	ENST00000350375.2:c.*153C>A			ENST00000350375	NM_000306.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46873.1	.	RADIA|MUTECT|MUSE	.	TTGTTGGTTTC	NONE	.	.	.	.	.	ENSP00000342931	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000344265	Transcript	.	.	ENSG00000064835	9210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIT1_HUMAN	POU1F1	HGNC	.	.	UPI000002B11B	SNV	POU1F1,3_prime_UTR_variant,,ENST00000344265,;POU1F1,3_prime_UTR_variant,,ENST00000350375,;POU1F1,downstream_gene_variant,,ENST00000561167,;POU1F1,downstream_gene_variant,,ENST00000560656,;CHMP2B,downstream_gene_variant,,ENST00000263780,;	1149	18	23	SUCCESS
ARHGEF38	54848	.	GRCh37	4	106601333	106601333	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	35	0	ENST00000420470.2:c.*2239T>G			ENST00000420470	NM_001242729.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56338.1	.	MUTECT|MUSE	.	CTGACTTTAAG	NONE	.	.	.	.	.	ENSP00000416125	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000420470	Transcript	.	.	ENSG00000236699	25968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARH38_HUMAN	ARHGEF38	HGNC	.	.	UPI0001D3B6A5	SNV	ARHGEF38,3_prime_UTR_variant,,ENST00000420470,;INTS12,downstream_gene_variant,,ENST00000451321,;INTS12,downstream_gene_variant,,ENST00000394735,;INTS12,downstream_gene_variant,,ENST00000340139,;ARHGEF38,intron_variant,,ENST00000503289,;INTS12,downstream_gene_variant,,ENST00000493425,;RP11-311D14.1,upstream_gene_variant,,ENST00000503155,;	4717	35	29	SUCCESS
SLC36A1	206358	.	GRCh37	5	150867883	150867883	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	45	0	ENST00000243389.3:c.*68C>T			ENST00000243389	NM_078483.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4316.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAGCCTCAG	NONE	.	.	.	.	.	ENSP00000243389	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000243389	Transcript	.	.	ENSG00000123643	18761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S36A1_HUMAN	SLC36A1	HGNC	H0YB60_HUMAN,E5RI40_HUMAN,E5RHG5_HUMAN,E5RG64_HUMAN,D2Y3F6_HUMAN	.	UPI00001A9D3C	SNV	SLC36A1,3_prime_UTR_variant,,ENST00000243389,;SLC36A1,3_prime_UTR_variant,,ENST00000520701,;SLC36A1,downstream_gene_variant,,ENST00000522185,;	1722	45	44	SUCCESS
ENPP3	5169	.	GRCh37	6	131958414	131958414	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	31	106	0				ENST00000357639	NM_005021.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5148.1	.	MUTECT|MUSE	.	AACAGTTAAAA	NONE	.	.	.	.	.	ENSP00000406261	.	2/26	.	.	.	.	.	.	.	.	.	2/26	PASS	ENST00000414305	Transcript	.	.	ENSG00000154269	3358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ENPP3_HUMAN	ENPP3	HGNC	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN	.	UPI000013DD9F	SNV	ENPP3,5_prime_UTR_variant,,ENST00000414305,;ENPP3,upstream_gene_variant,,ENST00000358229,;ENPP3,upstream_gene_variant,,ENST00000427148,;ENPP3,upstream_gene_variant,,ENST00000357639,;ENPP3,upstream_gene_variant,,ENST00000543135,;ENPP3,upstream_gene_variant,,ENST00000470930,;ENPP3,5_prime_UTR_variant,,ENST00000427707,;ENPP3,upstream_gene_variant,,ENST00000423831,;	218	106	86	SUCCESS
POU3F2	5454	.	GRCh37	6	99285602	99285602	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	213	131	392	0	ENST00000328345.5:c.*1521T>C			ENST00000328345	NM_005604.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5040.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGTTAATA	NONE	.	.	.	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	3023	392	344	SUCCESS
ZC2HC1A	51101	.	GRCh37	8	79629806	79629806	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACE-01	TCGA-DD-AACE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	37	0	ENST00000263849.4:c.*78T>C			ENST00000263849	NM_016010.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6223.1	.	MUTECT|MUSE	.	TCCTCTAGTTA	NONE	.	.	.	.	.	ENSP00000263849	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000263849	Transcript	.	.	ENSG00000104427	24277	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZC21A_HUMAN	ZC2HC1A	HGNC	.	.	UPI000013D475	SNV	ZC2HC1A,3_prime_UTR_variant,,ENST00000263849,;ZC2HC1A,downstream_gene_variant,,ENST00000519307,;IL7,intron_variant,,ENST00000523959,;IL7,downstream_gene_variant,,ENST00000519833,;	1158	37	32	SUCCESS
SYT7	9066	.	GRCh37	11	61286069	61286072	+	3_prime_UTR_variant	3'UTR	DEL	CTCG	CTCG	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	CTCG	CTCG	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	22	0	ENST00000263846.4:c.*27_*30del			ENST00000263846	NM_004200.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS58139.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGGCCCTCGGCCCC	NONE	.	.	.	.	.	ENSP00000444201	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000540677	Transcript	.	.	ENSG00000011347	11514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYT7_HUMAN	SYT7	HGNC	.	.	UPI0001639ECE	deletion	SYT7,3_prime_UTR_variant,,ENST00000263846,;SYT7,3_prime_UTR_variant,,ENST00000540677,;SYT7,downstream_gene_variant,,ENST00000535826,;SYT7,downstream_gene_variant,,ENST00000542836,;SYT7,downstream_gene_variant,,ENST00000539008,;SYT7,downstream_gene_variant,,ENST00000542670,;SYT7,downstream_gene_variant,,ENST00000539246,;SYT7,downstream_gene_variant,,ENST00000539468,;	1470-1473	22	51	SUCCESS
DHODH	1723	.	GRCh37	16	72058105	72058105	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs777050034	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	64	62	0	ENST00000219240.4:c.*7C>T			ENST00000219240	NM_001361.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42192.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAGCGTCTG	NONE	byFrequency	.	.	.	.	ENSP00000219240	.	9/9	.	.	.	.	.	.	.	.	rs777050034	9/9	PASS	ENST00000219240	Transcript	.	.	ENSG00000102967	2867	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PYRD_HUMAN	DHODH	HGNC	J3QRQ3_HUMAN	.	UPI00001FF5FB	SNV	DHODH,synonymous_variant,p.%3D,ENST00000574309,;DHODH,3_prime_UTR_variant,,ENST00000219240,;DHODH,3_prime_UTR_variant,,ENST00000572887,;DHODH,downstream_gene_variant,,ENST00000573922,;DHODH,non_coding_transcript_exon_variant,,ENST00000571392,;DHODH,downstream_gene_variant,,ENST00000572003,;DHODH,downstream_gene_variant,,ENST00000573843,;	1216	62	86	SUCCESS
KIF18B	146909	.	GRCh37	17	43003378	43003378	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	17	31	0	ENST00000593135.1:c.*70C>A			ENST00000593135	NM_001265577.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45709.2	.	MUTECT|MUSE	.	CTACAGGTCCA	NONE	.	.	.	.	.	ENSP00000465992	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000593135	Transcript	.	.	ENSG00000186185	27102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI18B_HUMAN	KIF18B	HGNC	.	.	UPI000192C418	SNV	KIF18B,3_prime_UTR_variant,,ENST00000593135,;KIF18B,3_prime_UTR_variant,,ENST00000438933,;KIF18B,3_prime_UTR_variant,,ENST00000587309,;KIF18B,downstream_gene_variant,,ENST00000590129,;KIF18B,downstream_gene_variant,,ENST00000339151,;	2727	31	34	SUCCESS
CANT1	124583	.	GRCh37	17	76989549	76989549	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	16	0	ENST00000302345.2:c.*83C>A			ENST00000302345	NM_001159773.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11760.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	AAAAAGAACAA	NONE	.	.	.	.	.	ENSP00000307674	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302345	Transcript	.	.	ENSG00000171302	19721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CANT1_HUMAN	CANT1	HGNC	K7EQT4_HUMAN,K7EMT2_HUMAN,K7EKT2_HUMAN,K7EIP9_HUMAN	.	UPI00000734F8	SNV	CANT1,3_prime_UTR_variant,,ENST00000302345,;CANT1,3_prime_UTR_variant,,ENST00000392446,;CANT1,downstream_gene_variant,,ENST00000591625,;CANT1,downstream_gene_variant,,ENST00000586916,;CANT1,downstream_gene_variant,,ENST00000588075,;CANT1,downstream_gene_variant,,ENST00000592033,;CANT1,downstream_gene_variant,,ENST00000591773,;CANT1,downstream_gene_variant,,ENST00000590370,;CANT1,downstream_gene_variant,,ENST00000588611,;CANT1,downstream_gene_variant,,ENST00000591811,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,downstream_gene_variant,,ENST00000592887,;CANT1,intron_variant,,ENST00000592228,;CANT1,downstream_gene_variant,,ENST00000588096,;	1784	16	24	SUCCESS
DLGAP1	9229	.	GRCh37	18	3499060	3499060	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	18	17	0	ENST00000315677.3:c.*123C>A			ENST00000315677	NM_004746.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11836.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCGCGACA	NONE	.	.	.	.	.	ENSP00000316377	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000315677	Transcript	.	.	ENSG00000170579	2905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLGP1_HUMAN	DLGAP1	HGNC	.	.	UPI0000129490	SNV	DLGAP1,3_prime_UTR_variant,,ENST00000315677,;DLGAP1,3_prime_UTR_variant,,ENST00000400149,;DLGAP1,3_prime_UTR_variant,,ENST00000584874,;DLGAP1,3_prime_UTR_variant,,ENST00000400150,;DLGAP1,3_prime_UTR_variant,,ENST00000400155,;DLGAP1,3_prime_UTR_variant,,ENST00000400147,;DLGAP1,3_prime_UTR_variant,,ENST00000539435,;DLGAP1,3_prime_UTR_variant,,ENST00000534970,;DLGAP1,3_prime_UTR_variant,,ENST00000581699,;DLGAP1,downstream_gene_variant,,ENST00000581527,;DLGAP1,downstream_gene_variant,,ENST00000400145,;DLGAP1,downstream_gene_variant,,ENST00000515196,;	3653	17	33	SUCCESS
MBD3L2	125997	.	GRCh37	19	7051735	7051735	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1360356850	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	20	0	ENST00000381393.3:c.*102T>C			ENST00000381393	NM_144614.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42483.1	.	RADIA|MUTECT|VARSCANS	.	AAAAGTATTTG	NONE	.	.	.	.	.	ENSP00000370800	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381393	Transcript	.	.	ENSG00000230522	18532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MB3L2_HUMAN	MBD3L2	HGNC	.	.	UPI000059D64D	SNV	MBD3L2,3_prime_UTR_variant,,ENST00000381393,;MBD3L3,downstream_gene_variant,,ENST00000333843,;	782	20	27	SUCCESS
RP5-1182A14.5	0	.	GRCh37	1	16946447	16946447	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	190	30	144	0				ENST00000607700				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGCAGCTCCT	NONE	.	2223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000607700	Transcript	.	.	ENSG00000271732	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP5-1182A14.5	Clone_based_vega_gene	.	.	.	SNV	CROCCP2,non_coding_transcript_exon_variant,,ENST00000540383,;CROCCP2,non_coding_transcript_exon_variant,,ENST00000412962,;RP5-1182A14.5,downstream_gene_variant,,ENST00000607700,;	.	144	221	SUCCESS
EIF2D	1939	.	GRCh37	1	206760360	206760360	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	30	63	0				ENST00000271764	NM_006893.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30998.1	.	RADIA|MUTECT	.	ATTATTAATTA	BUFFER|p.Y392D|c.1174T>G|4	.	.	.	.	.	ENSP00000347443	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000355294	Transcript	.	.	ENSG00000136653	17609	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASF5_HUMAN	RASSF5	HGNC	.	.	UPI0000072CF5	SNV	RASSF5,3_prime_UTR_variant,,ENST00000367117,;RASSF5,3_prime_UTR_variant,,ENST00000355294,;RASSF5,3_prime_UTR_variant,,ENST00000304534,;EIF2D,downstream_gene_variant,,ENST00000367114,;EIF2D,downstream_gene_variant,,ENST00000271764,;RASSF5,non_coding_transcript_exon_variant,,ENST00000491368,;RASSF5,non_coding_transcript_exon_variant,,ENST00000481486,;EIF2D,intron_variant,,ENST00000472709,;	1364	63	116	SUCCESS
RCOR3	55758	.	GRCh37	1	211487193	211487193	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	8	16	0	ENST00000367005.4:c.*83A>G			ENST00000367005	NM_018254.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44312.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGAATAATC	NONE	.	.	.	.	.	ENSP00000413929	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000419091	Transcript	.	.	ENSG00000117625	25594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCOR3_HUMAN	RCOR3	HGNC	E9PR63_HUMAN,E9PQE5_HUMAN	.	UPI00005AE45B	SNV	RCOR3,3_prime_UTR_variant,,ENST00000367006,;RCOR3,3_prime_UTR_variant,,ENST00000419091,;RCOR3,3_prime_UTR_variant,,ENST00000367005,;RCOR3,downstream_gene_variant,,ENST00000534460,;RCOR3,downstream_gene_variant,,ENST00000529763,;RCOR3,downstream_gene_variant,,ENST00000452621,;RCOR3,downstream_gene_variant,,ENST00000526255,;RCOR3,non_coding_transcript_exon_variant,,ENST00000486666,;RCOR3,downstream_gene_variant,,ENST00000485186,;RCOR3,downstream_gene_variant,,ENST00000528066,;RCOR3,downstream_gene_variant,,ENST00000528926,;	1873	16	43	SUCCESS
KIAA0754	23499	.	GRCh37	1	39881969	39881969	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1226008616	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	67	127	0	ENST00000530275.1:c.*1748A>G			ENST00000530275	NM_015038.1			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCAATAGCC	NONE	.	.	.	.	.	ENSP00000431179	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530275	Transcript	.	.	ENSG00000255103	29111	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0754_HUMAN	KIAA0754	HGNC	.	.	UPI0000DD78B2	SNV	KIAA0754,3_prime_UTR_variant,,ENST00000530275,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000482035,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;	5819	127	158	SUCCESS
NXT1	29107	.	GRCh37	20	23335285	23335285	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	87	139	0	ENST00000254998.2:c.*184A>G			ENST00000254998	NM_013248.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13150.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATATATAC	NONE	.	.	.	.	.	ENSP00000254998	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000254998	Transcript	.	.	ENSG00000132661	15913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXT1_HUMAN	NXT1	HGNC	.	.	UPI0000111F8B	SNV	NXT1,3_prime_UTR_variant,,ENST00000254998,;AL096677.1,upstream_gene_variant,,ENST00000596205,;RP3-322G13.5,downstream_gene_variant,,ENST00000444981,;RP3-322G13.5,downstream_gene_variant,,ENST00000442440,;RP3-322G13.5,downstream_gene_variant,,ENST00000452395,;RP3-322G13.7,upstream_gene_variant,,ENST00000442884,;	994	139	178	SUCCESS
EMILIN1	11117	.	GRCh37	2	27309070	27309070	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	16	0	ENST00000380320.4:c.*187G>A			ENST00000380320	NM_007046.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1733.1	.	MUTECT|MUSE	.	GGGCCGCCCAT	NONE	.	.	.	.	.	ENSP00000369677	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000380320	Transcript	.	.	ENSG00000138080	19880	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EMIL1_HUMAN	EMILIN1	HGNC	.	.	UPI000013D0F3	SNV	EMILIN1,3_prime_UTR_variant,,ENST00000380320,;EMILIN1,3_prime_UTR_variant,,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000429697,;KHK,upstream_gene_variant,,ENST00000260599,;KHK,upstream_gene_variant,,ENST00000260598,;KHK,upstream_gene_variant,,ENST00000490823,;	3737	16	16	SUCCESS
MCF2L2	23101	.	GRCh37	3	182897166	182897166	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	32	60	0	ENST00000328913.3:c.*2C>G			ENST00000328913	NM_015078.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3243.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAGGTCAG	NONE	.	.	.	.	.	ENSP00000328118	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000328913	Transcript	.	.	ENSG00000053524	30319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MF2L2_HUMAN	MCF2L2	HGNC	C9J326_HUMAN	.	UPI00001A962F	SNV	MCF2L2,3_prime_UTR_variant,,ENST00000473233,;MCF2L2,3_prime_UTR_variant,,ENST00000328913,;MCF2L2,downstream_gene_variant,,ENST00000468976,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000478652,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000464626,;	3645	60	99	SUCCESS
CLEC3B	7123	.	GRCh37	3	45077425	45077425	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	38	0	ENST00000296130.4:c.*9G>T			ENST00000296130	NM_003278.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2726.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGGGCGGGG	NONE	.	.	.	.	.	ENSP00000296130	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,3_prime_UTR_variant,,ENST00000296130,;CLEC3B,3_prime_UTR_variant,,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	798	38	59	SUCCESS
CLEC3B	7123	.	GRCh37	3	45077426	45077426	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	26	39	0	ENST00000296130.4:c.*10C>T			ENST00000296130	NM_003278.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2726.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGGGGCGGGGG	NONE	.	.	.	.	.	ENSP00000296130	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296130	Transcript	.	.	ENSG00000163815	11891	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TETN_HUMAN	CLEC3B	HGNC	E9PHK0_HUMAN	.	UPI000013E305	SNV	CLEC3B,3_prime_UTR_variant,,ENST00000296130,;CLEC3B,3_prime_UTR_variant,,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	799	39	59	SUCCESS
GLT8D1	55830	.	GRCh37	3	52728763	52728781	+	3_prime_UTR_variant	3'UTR	DEL	GCTACCGATAGGCATTGAA	GCTACCGATAGGCATTGAA	-	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	GCTACCGATAGGCATTGAA	GCTACCGATAGGCATTGAA	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	24	0	ENST00000266014.5:c.*80_*98del			ENST00000266014	NM_018446.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2862.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCTTGCTACCGATAGGCATTGAAGCCTA	NONE	.	.	.	.	.	ENSP00000385730	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000407584	Transcript	.	.	ENSG00000016864	24870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GL8D1_HUMAN	GLT8D1	HGNC	C9JY96_HUMAN,C9JPK4_HUMAN,C9JNB0_HUMAN,C9JA13_HUMAN,C9J880_HUMAN,C9J6X9_HUMAN	.	UPI0000032D21	deletion	GLT8D1,3_prime_UTR_variant,,ENST00000491606,;GLT8D1,3_prime_UTR_variant,,ENST00000394783,;GLT8D1,3_prime_UTR_variant,,ENST00000407584,;GLT8D1,3_prime_UTR_variant,,ENST00000478968,;GLT8D1,3_prime_UTR_variant,,ENST00000266014,;GLT8D1,downstream_gene_variant,,ENST00000497436,;GNL3,downstream_gene_variant,,ENST00000394799,;GLT8D1,downstream_gene_variant,,ENST00000479553,;GLT8D1,downstream_gene_variant,,ENST00000497953,;GNL3,downstream_gene_variant,,ENST00000418458,;GLT8D1,downstream_gene_variant,,ENST00000489119,;GLT8D1,downstream_gene_variant,,ENST00000487642,;SNORD19B,downstream_gene_variant,,ENST00000459623,;SNORD69,downstream_gene_variant,,ENST00000391150,;SNORD19,downstream_gene_variant,,ENST00000410413,;GLT8D1,downstream_gene_variant,,ENST00000463827,;GLT8D1,3_prime_UTR_variant,,ENST00000481643,;GNL3,downstream_gene_variant,,ENST00000496254,;GLT8D1,downstream_gene_variant,,ENST00000484163,;GLT8D1,downstream_gene_variant,,ENST00000485899,;GLT8D1,downstream_gene_variant,,ENST00000480080,;GNL3,downstream_gene_variant,,ENST00000492349,;GNL3,downstream_gene_variant,,ENST00000497356,;GNL3,downstream_gene_variant,,ENST00000484022,;	2047-2065	24	32	SUCCESS
IRF1	3659	.	GRCh37	5	131819600	131819600	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs376659584	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	82	42	56	0	ENST00000245414.4:c.*43C>T			ENST00000245414	NM_002198.2			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS4155.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGTCCT	NONE	byCluster	.	.	.	A:0	ENSP00000245414	.	10/10	.	.	.	.	.	.	.	.	rs376659584	10/10	PASS	ENST00000245414	Transcript	1	.	ENSG00000125347	6116	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRF1_HUMAN	IRF1	HGNC	R4GNI0_HUMAN,Q75MZ8_HUMAN,Q6FHN8_HUMAN,C9JD95_HUMAN	.	UPI000012D885	SNV	IRF1,3_prime_UTR_variant,,ENST00000405885,;IRF1,3_prime_UTR_variant,,ENST00000245414,;IRF1,downstream_gene_variant,,ENST00000458069,;IRF1,downstream_gene_variant,,ENST00000437654,;IRF1,downstream_gene_variant,,ENST00000476613,;IRF1,downstream_gene_variant,,ENST00000463784,;IRF1,non_coding_transcript_exon_variant,,ENST00000472045,;IRF1,downstream_gene_variant,,ENST00000493208,;IRF1,downstream_gene_variant,,ENST00000439555,;IRF1,downstream_gene_variant,,ENST00000459982,;	1280	56	124	SUCCESS
FUT9	10690	.	GRCh37	6	96659892	96659892	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	62	107	0	ENST00000302103.5:c.*7781C>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTACAGAAA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	9187	107	142	SUCCESS
PAX4	5078	.	GRCh37	7	127250877	127250877	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	9	0	ENST00000341640.2:c.*241A>T			ENST00000341640	NM_006193.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5797.1	.	MUTECT|MUSE	.	GCTTTTATTAC	NONE	.	.	.	.	.	ENSP00000339906	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000341640	Transcript	.	.	ENSG00000106331	8618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAX4_HUMAN	PAX4	HGNC	.	.	UPI000013C824	SNV	PAX4,3_prime_UTR_variant,,ENST00000338516,;PAX4,3_prime_UTR_variant,,ENST00000378740,;PAX4,3_prime_UTR_variant,,ENST00000341640,;PAX4,downstream_gene_variant,,ENST00000463946,;PAX4,downstream_gene_variant,,ENST00000477423,;PAX4,downstream_gene_variant,,ENST00000483494,;	1479	9	18	SUCCESS
C7orf25	79020	.	GRCh37	7	42948996	42948996	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1033888040	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	9	0	ENST00000350427.4:c.*238A>G			ENST00000350427				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47576.1	.	MUTECT|MUSE|VARSCANS	.	TTATATAGACG	NONE	.	56	.	.	.	ENSP00000416290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000431882	Transcript	.	.	ENSG00000136197	21703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CG025_HUMAN	C7orf25	HGNC	C9K0L6_HUMAN,C9JF90_HUMAN	.	UPI000159689A	SNV	C7orf25,3_prime_UTR_variant,,ENST00000350427,;C7orf25,3_prime_UTR_variant,,ENST00000447342,;C7orf25,downstream_gene_variant,,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000431882,;C7orf25,downstream_gene_variant,,ENST00000438029,;C7orf25,downstream_gene_variant,,ENST00000432637,;PSMA2,3_prime_UTR_variant,,ENST00000442788,;PSMA2,downstream_gene_variant,,ENST00000433579,;	.	9	19	SUCCESS
CLDN12	9069	.	GRCh37	7	90043557	90043557	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	40	93	0	ENST00000287916.4:c.*832C>G			ENST00000287916	NM_001185073.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5618.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTCTCTTT	NONE	.	.	.	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	SNV	CLDN12,3_prime_UTR_variant,,ENST00000287916,;CLDN12,3_prime_UTR_variant,,ENST00000535571,;CLDN12,3_prime_UTR_variant,,ENST00000394605,;CLDN12,downstream_gene_variant,,ENST00000427904,;CLDN12,downstream_gene_variant,,ENST00000496677,;CLDN12,downstream_gene_variant,,ENST00000394604,;CLDN12,downstream_gene_variant,,ENST00000416322,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000462636,;	1876	93	170	SUCCESS
CCDC25	55246	.	GRCh37	8	27593492	27593492	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	16	0	ENST00000356537.4:c.*241C>T			ENST00000356537	NM_018246.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6062.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTCTGGCAAA	NONE	.	.	.	.	.	ENSP00000348933	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000356537	Transcript	.	.	ENSG00000147419	25591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD25_HUMAN	CCDC25	HGNC	Q0P663_HUMAN	.	UPI0000039E53	SNV	CCDC25,3_prime_UTR_variant,,ENST00000356537,;CCDC25,3_prime_UTR_variant,,ENST00000539095,;CCDC25,downstream_gene_variant,,ENST00000522915,;RP11-16P20.3,intron_variant,,ENST00000521510,;CCDC25,3_prime_UTR_variant,,ENST00000523841,;CCDC25,3_prime_UTR_variant,,ENST00000520486,;CCDC25,3_prime_UTR_variant,,ENST00000520202,;CCDC25,3_prime_UTR_variant,,ENST00000519509,;CCDC25,downstream_gene_variant,,ENST00000524084,;CCDC25,downstream_gene_variant,,ENST00000521220,;	962	16	20	SUCCESS
GCNT1	2650	.	GRCh37	9	79121334	79121334	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACF-01	TCGA-DD-AACF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	53	91	0	ENST00000376730.4:c.*2750C>A			ENST00000376730	NM_001490.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6653.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAATCCCAGT	NONE	.	.	.	.	.	ENSP00000415454	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000442371	Transcript	.	.	ENSG00000187210	4203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCNT1_HUMAN	GCNT1	HGNC	.	.	UPI000013CF63	SNV	GCNT1,3_prime_UTR_variant,,ENST00000376730,;GCNT1,3_prime_UTR_variant,,ENST00000442371,;GCNT1,3_prime_UTR_variant,,ENST00000444201,;GCNT1,downstream_gene_variant,,ENST00000536223,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	4976	91	140	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	41	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	42	32	SUCCESS
ESPL1	9700	.	GRCh37	12	53687349	53687349	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	20	0	ENST00000257934.4:c.*91G>T			ENST00000257934	NM_012291.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8852.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTGATTTT	NONE	.	.	.	.	.	ENSP00000257934	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000257934	Transcript	.	.	ENSG00000135476	16856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ESPL1_HUMAN	ESPL1	HGNC	H3BRX7_HUMAN	.	UPI00003668C3	SNV	ESPL1,3_prime_UTR_variant,,ENST00000257934,;PFDN5,upstream_gene_variant,,ENST00000550846,;ESPL1,downstream_gene_variant,,ENST00000552462,;PFDN5,upstream_gene_variant,,ENST00000334478,;PFDN5,upstream_gene_variant,,ENST00000351500,;PFDN5,upstream_gene_variant,,ENST00000551018,;PFDN5,upstream_gene_variant,,ENST00000549759,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;PFDN5,upstream_gene_variant,,ENST00000549995,;ESPL1,downstream_gene_variant,,ENST00000552600,;PFDN5,upstream_gene_variant,,ENST00000553171,;PFDN5,upstream_gene_variant,,ENST00000547228,;PFDN5,upstream_gene_variant,,ENST00000547130,;PFDN5,upstream_gene_variant,,ENST00000552341,;PFDN5,upstream_gene_variant,,ENST00000243040,;PFDN5,upstream_gene_variant,,ENST00000550964,;PFDN5,upstream_gene_variant,,ENST00000552742,;PFDN5,upstream_gene_variant,,ENST00000550069,;PFDN5,upstream_gene_variant,,ENST00000551223,;PFDN5,upstream_gene_variant,,ENST00000552548,;ESPL1,downstream_gene_variant,,ENST00000553016,;PFDN5,upstream_gene_variant,,ENST00000550880,;PFDN5,upstream_gene_variant,,ENST00000548984,;PFDN5,upstream_gene_variant,,ENST00000550513,;	6545	20	15	SUCCESS
PDE8A	5151	.	GRCh37	15	85681148	85681148	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	37	88	0	ENST00000310298.4:c.*14C>T			ENST00000310298				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10336.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCACCCAGAG	NONE	.	.	.	.	.	ENSP00000311453	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000310298	Transcript	.	.	ENSG00000073417	8793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE8A_HUMAN	PDE8A	HGNC	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN	.	UPI0000127C00	SNV	PDE8A,3_prime_UTR_variant,,ENST00000394553,;PDE8A,3_prime_UTR_variant,,ENST00000339708,;PDE8A,3_prime_UTR_variant,,ENST00000310298,;PDE8A,3_prime_UTR_variant,,ENST00000557957,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000561024,;	2756	88	70	SUCCESS
PPP1R12B	4660	.	GRCh37	1	202549854	202549864	+	3_prime_UTR_variant	3'UTR	DEL	CTTTCAATGCC	CTTTCAATGCC	TT	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	CTTTCAATGCC	CTTTCAATGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	14	14	36	0	ENST00000608999.1:c.*166_*176delinsTT			ENST00000608999	NM_002481.3			0	.	.	.	.	.	TT	.	protein_coding	YES	CCDS1426.1	.	INDELOCATOR*|PINDEL	.	TCTGCACTTTCAATGCCCTGTT	NONE	.	.	.	.	.	ENSP00000476755	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000608999	Transcript	.	.	ENSG00000077157	7619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PPP1R12B	HGNC	.	.	UPI0000458A57	substitution	PPP1R12B,3_prime_UTR_variant,,ENST00000391959,;PPP1R12B,3_prime_UTR_variant,,ENST00000367270,;PPP1R12B,3_prime_UTR_variant,,ENST00000608999,;PPP1R12B,3_prime_UTR_variant,,ENST00000336894,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000462074,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000465284,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000491336,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000290419,;	3268-3278	36	28	SUCCESS
OR14C36	127066	.	GRCh37	1	248512076	248512076	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs370829903	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	37	72	0				ENST00000317861	NM_001001918.1			0	A:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS31112.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCGATGCC	NONE	byFrequency|byCluster	1	.	.	A:0.0001	ENSP00000324534	.	.	.	.	.	.	.	.	.	.	rs370829903	.	PASS	ENST00000317861	Transcript	.	.	ENSG00000177174	15026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O14CZ_HUMAN	OR14C36	HGNC	.	.	UPI0000041CB1	SNV	OR14C36,upstream_gene_variant,,ENST00000317861,;	.	72	59	SUCCESS
HFM1	164045	.	GRCh37	1	91726556	91726573	+	3_prime_UTR_variant	3'UTR	DEL	ATTAATAGCCAAATAATT	ATTAATAGCCAAATAATT	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	ATTAATAGCCAAATAATT	ATTAATAGCCAAATAATT	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	46	0	ENST00000370425.3:c.*274_*291del			ENST00000370425	NM_001017975.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30769.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AATCCAATTAATAGCCAAATAATTATTTC	NONE	.	.	.	.	.	ENSP00000359454	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000370425	Transcript	.	.	ENSG00000162669	20193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HFM1_HUMAN	HFM1	HGNC	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN	.	UPI0000F51F79	deletion	HFM1,3_prime_UTR_variant,,ENST00000370425,;HFM1,3_prime_UTR_variant,,ENST00000294696,;HFM1,downstream_gene_variant,,ENST00000370424,;HFM1,downstream_gene_variant,,ENST00000430465,;Y_RNA,upstream_gene_variant,,ENST00000384090,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;	4681-4698	46	39	SUCCESS
NIFK	84365	.	GRCh37	2	122484919	122484919	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs73950812	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	86	119	0	ENST00000285814.4:c.*381A>G			ENST00000285814	NM_032390.4			0	.	C:0.0182	.	C:0	.	C	.	protein_coding	YES	CCDS2135.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACCATGTAGA	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000285814	C:0	7/7	.	.	.	.	.	.	.	.	rs73950812	7/7	PASS	ENST00000285814	Transcript	.	C:0.0048	ENSG00000155438	17838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	MK67I_HUMAN	NIFK	HGNC	C9J808_HUMAN	.	UPI00000738EB	SNV	NIFK,3_prime_UTR_variant,,ENST00000285814,;NIFK,downstream_gene_variant,,ENST00000451734,;NIFK,downstream_gene_variant,,ENST00000423105,;NIFK,downstream_gene_variant,,ENST00000447132,;NIFK-AS1,intron_variant,,ENST00000419902,;NIFK,downstream_gene_variant,,ENST00000498570,;NIFK,downstream_gene_variant,,ENST00000481978,;NIFK,downstream_gene_variant,,ENST00000477693,;	1336	119	136	SUCCESS
RPE	6120	.	GRCh37	2	210885145	210885145	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	74	0	ENST00000359429.6:c.*630A>T			ENST00000359429	NM_199229.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2388.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTAAGAAC	NONE	.	.	.	.	.	ENSP00000352401	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000359429	Transcript	.	.	ENSG00000197713	10293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPE_HUMAN	RPE	HGNC	C9JPQ7_HUMAN,C9JCL8_HUMAN,C9J6A7_HUMAN	.	UPI0000037A9A	SNV	RPE,3_prime_UTR_variant,,ENST00000454822,;RPE,3_prime_UTR_variant,,ENST00000359429,;RPE,3_prime_UTR_variant,,ENST00000429921,;RPE,3_prime_UTR_variant,,ENST00000354506,;RPE,3_prime_UTR_variant,,ENST00000540255,;RPE,downstream_gene_variant,,ENST00000441588,;RPE,downstream_gene_variant,,ENST00000435437,;RPE,downstream_gene_variant,,ENST00000453724,;KANSL1L,downstream_gene_variant,,ENST00000281772,;RPE,downstream_gene_variant,,ENST00000429907,;RPE,downstream_gene_variant,,ENST00000438265,;RPE,downstream_gene_variant,,ENST00000452025,;KANSL1L,downstream_gene_variant,,ENST00000418791,;RPE,downstream_gene_variant,,ENST00000445268,;RPE,downstream_gene_variant,,ENST00000438204,;RPE,downstream_gene_variant,,ENST00000408981,;RPE,downstream_gene_variant,,ENST00000411934,;RPE,downstream_gene_variant,,ENST00000436630,;RPE,downstream_gene_variant,,ENST00000438191,;	1414	74	66	SUCCESS
DHX57	90957	.	GRCh37	2	39053721	39053721	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	A	rs773044904	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	51	111	0	ENST00000457308.1:c.*1048A>T			ENST00000457308		917		0	.	.	.	.	.	A	E/V	protein_coding	YES	CCDS1800.1	2750	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTCTCAGCA	NONE	.	.	PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540	.	.	ENSP00000295373	.	15/24	.	.	.	.	.	.	.	.	rs773044904	15/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	SNV	DHX57,missense_variant,p.Glu241Val,ENST00000452978,;DHX57,missense_variant,p.Glu917Val,ENST00000295373,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;	2877	111	96	SUCCESS
CAMK2D	817	.	GRCh37	4	114375558	114375558	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	17	50	0	ENST00000342666.5:c.*143A>G			ENST00000342666				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3703.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACCTTCACA	NONE	.	.	.	.	.	ENSP00000339740	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000342666	Transcript	.	.	ENSG00000145349	1462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCC2D_HUMAN	CAMK2D	HGNC	.	.	UPI000013FFDA	SNV	CAMK2D,3_prime_UTR_variant,,ENST00000296402,;CAMK2D,3_prime_UTR_variant,,ENST00000342666,;CAMK2D,3_prime_UTR_variant,,ENST00000418639,;CAMK2D,3_prime_UTR_variant,,ENST00000511664,;CAMK2D,3_prime_UTR_variant,,ENST00000394524,;CAMK2D,3_prime_UTR_variant,,ENST00000394526,;CAMK2D,3_prime_UTR_variant,,ENST00000513132,;CAMK2D,3_prime_UTR_variant,,ENST00000429180,;CAMK2D,3_prime_UTR_variant,,ENST00000454265,;CAMK2D,downstream_gene_variant,,ENST00000508738,;CAMK2D,downstream_gene_variant,,ENST00000514328,;CAMK2D,downstream_gene_variant,,ENST00000515496,;CAMK2D,downstream_gene_variant,,ENST00000505990,;CAMK2D,downstream_gene_variant,,ENST00000379773,;CAMK2D,downstream_gene_variant,,ENST00000394522,;	1643	50	21	SUCCESS
SYNPO2	171024	.	GRCh37	4	119979383	119979383	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	9	10	0	ENST00000307142.4:c.*294C>A			ENST00000307142	NM_133477.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34054.1	.	MUTECT|MUSE	.	TAATTCATAAT	NONE	.	.	.	.	.	ENSP00000306015	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,3_prime_UTR_variant,,ENST00000448416,;SYNPO2,3_prime_UTR_variant,,ENST00000307142,;SYNPO2,3_prime_UTR_variant,,ENST00000504178,;	4276	10	11	SUCCESS
GYPE	2996	.	GRCh37	4	144796663	144796663	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	38	176	0	ENST00000358615.4:c.*9+1236G>T			ENST00000358615	NM_198682.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47138.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCCTGTGA	NONE	.	.	.	.	.	ENSP00000351430	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358615	Transcript	.	.	ENSG00000197465	4705	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLPE_HUMAN	GYPE	HGNC	Q9NRB2_HUMAN	.	UPI000012B76B	SNV	GYPE,splice_acceptor_variant,,ENST00000437468,;GYPE,intron_variant,,ENST00000358615,;GYPE,intron_variant,,ENST00000506264,;	.	176	117	SUCCESS
APBB2	323	.	GRCh37	4	40818098	40818098	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs371744120	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	17	68	0	ENST00000295974.8:c.*11A>C			ENST00000295974	NM_001166050.1			0	C:0	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS54762.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTTGCATG	NONE	byCluster|by1000G	.	.	G:0.001	C:0.0001	ENSP00000427211	G:0	18/18	.	.	.	.	.	.	.	.	rs371744120	18/18	PASS	ENST00000508593	Transcript	.	G:0.0002	ENSG00000163697	582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	APBB2_HUMAN	APBB2	HGNC	Q5I0G1_HUMAN,D6RGD4_HUMAN,D6RDY3_HUMAN,D6RD19_HUMAN,D6RB55_HUMAN,D6RB00_HUMAN,D6RAJ4_HUMAN,D6RAE0_HUMAN,A8K1C3_HUMAN	.	UPI0001B8E1D4	SNV	APBB2,3_prime_UTR_variant,,ENST00000513140,;APBB2,3_prime_UTR_variant,,ENST00000543538,;APBB2,3_prime_UTR_variant,,ENST00000295974,;APBB2,3_prime_UTR_variant,,ENST00000506352,;APBB2,3_prime_UTR_variant,,ENST00000513611,;APBB2,3_prime_UTR_variant,,ENST00000508593,;APBB2,3_prime_UTR_variant,,ENST00000502841,;APBB2,3_prime_UTR_variant,,ENST00000504305,;RP11-632F7.3,intron_variant,,ENST00000513127,;APBB2,non_coding_transcript_exon_variant,,ENST00000502687,;APBB2,downstream_gene_variant,,ENST00000510925,;	2835	68	92	SUCCESS
FBXL7	23194	.	GRCh37	5	15937316	15937316	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs201901592	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	30	23	0	ENST00000504595.1:c.*21G>A			ENST00000504595	NM_012304.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54833.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGCGTTGTA	NONE	byCluster	.	.	.	.	ENSP00000423630	.	4/4	.	.	.	.	.	.	.	.	rs201901592	4/4	PASS	ENST00000504595	Transcript	.	.	ENSG00000183580	13604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBXL7_HUMAN	FBXL7	HGNC	J3KNM9_HUMAN,D6RDY7_HUMAN	.	UPI00000724E0	SNV	FBXL7,3_prime_UTR_variant,,ENST00000510662,;FBXL7,3_prime_UTR_variant,,ENST00000504595,;FBXL7,downstream_gene_variant,,ENST00000329673,;MIR887,downstream_gene_variant,,ENST00000401258,;	1978	23	40	SUCCESS
ESM1	11082	.	GRCh37	5	54274853	54274853	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	8	0	ENST00000381405.4:c.*307A>T			ENST00000381405	NM_007036.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3963.1	.	MUTECT|MUSE	.	CTCCCTCTTTG	NONE	.	.	.	.	.	ENSP00000370812	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381405	Transcript	.	.	ENSG00000164283	3466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ESM1_HUMAN	ESM1	HGNC	M0R154_HUMAN	.	UPI000012A1BA	SNV	ESM1,3_prime_UTR_variant,,ENST00000381403,;ESM1,3_prime_UTR_variant,,ENST00000381405,;ESM1,downstream_gene_variant,,ENST00000598310,;	1008	8	13	SUCCESS
EPM2A	7957	.	GRCh37	6	145947127	145947127	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	10	0	ENST00000367519.3:c.*1425G>A			ENST00000367519	NM_005670.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5206.1	.	MUTECT|MUSE	.	ATAGACAGTTG	NONE	.	.	.	.	.	ENSP00000356489	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367519	Transcript	.	.	ENSG00000112425	3413	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPM2A_HUMAN	EPM2A	HGNC	H0UI04_HUMAN	.	UPI000006E60E	SNV	EPM2A,3_prime_UTR_variant,,ENST00000367519,;EPM2A,intron_variant,,ENST00000435470,;EPM2A,intron_variant,,ENST00000450221,;	2947	10	9	SUCCESS
ATP6V1G2-DDX39B	100532737	.	GRCh37	6	31507007	31507007	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	37	96	0	ENST00000376185.1:c.*470C>G			ENST00000376185		86		0	.	.	.	.	.	C	L/V	protein_coding	YES	CCDS4697.1	256	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACAGGACAT	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF204,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487	.	.	ENSP00000379475	.	3/11	.	.	.	.	.	.	.	.	.	3/11	PASS	ENST00000396172	Transcript	.	.	ENSG00000198563	13917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.14)	.	tolerated(0.15)	.	DX39B_HUMAN	DDX39B	HGNC	Q7KYK3_HUMAN,F6WLT2_HUMAN,F6UN21_HUMAN,F6U6E2_HUMAN,F6TRA5_HUMAN,F6S4E6_HUMAN,F6QWI5_HUMAN	.	UPI0000001D0B	SNV	DDX39B,missense_variant,p.Leu86Val,ENST00000417556,;DDX39B,missense_variant,p.Leu86Val,ENST00000456976,;DDX39B,missense_variant,p.Leu86Val,ENST00000427214,;DDX39B,missense_variant,p.Leu86Val,ENST00000456662,;DDX39B,missense_variant,p.Leu86Val,ENST00000458640,;DDX39B,missense_variant,p.Leu86Val,ENST00000449074,;DDX39B,missense_variant,p.Leu86Val,ENST00000396172,;DDX39B,missense_variant,p.Leu109Val,ENST00000449757,;DDX39B,missense_variant,p.Leu86Val,ENST00000419020,;DDX39B,missense_variant,p.Leu86Val,ENST00000419338,;DDX39B,missense_variant,p.Leu86Val,ENST00000428450,;DDX39B,missense_variant,p.Leu101Val,ENST00000418897,;DDX39B,missense_variant,p.Leu86Val,ENST00000428098,;DDX39B,missense_variant,p.Leu86Val,ENST00000376177,;DDX39B,intron_variant,,ENST00000431908,;DDX39B,intron_variant,,ENST00000415382,;DDX39B,intron_variant,,ENST00000453105,;DDX39B,upstream_gene_variant,,ENST00000417023,;SNORD117,upstream_gene_variant,,ENST00000364915,;SNORD84,downstream_gene_variant,,ENST00000584275,;DDX39B-AS1,upstream_gene_variant,,ENST00000420520,;DDX39B-AS1,upstream_gene_variant,,ENST00000416684,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000475917,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,intron_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;	887	96	76	SUCCESS
NCR3	259197	.	GRCh37	6	31555456	31555456	+	downstream_gene_variant	3'Flank	SNP	C	C	T	.	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	42	0				ENST00000340027	NM_147130.2	20		0	.	.	.	.	.	T	L	protein_coding	YES	CCDS54984.1	58	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTCCTGCTT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF037638,Pfam_domain:PF05083,hmmpanther:PTHR15452,PROSITE_profiles:PS51257	.	.	ENSP00000365261	.	2/4	.	.	.	.	.	.	.	.	COSM3624587	2/4	PASS	ENST00000376093	Transcript	.	.	ENSG00000204482	14189	.	.	LOW	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	LST1_HUMAN	LST1	HGNC	Q5HYT5_HUMAN	.	UPI000002E21E	SNV	LST1,synonymous_variant,p.%3D,ENST00000376102,;LST1,synonymous_variant,p.%3D,ENST00000339530,;LST1,synonymous_variant,p.%3D,ENST00000433492,;LST1,synonymous_variant,p.%3D,ENST00000464044,;LST1,synonymous_variant,p.%3D,ENST00000438075,;LST1,synonymous_variant,p.%3D,ENST00000396101,;LST1,synonymous_variant,p.%3D,ENST00000303757,;LST1,synonymous_variant,p.%3D,ENST00000376093,;LST1,synonymous_variant,p.%3D,ENST00000396112,;LST1,synonymous_variant,p.%3D,ENST00000490742,;LST1,5_prime_UTR_variant,,ENST00000376111,;LST1,intron_variant,,ENST00000376099,;LST1,intron_variant,,ENST00000376110,;LST1,intron_variant,,ENST00000376086,;LST1,intron_variant,,ENST00000376100,;LST1,intron_variant,,ENST00000376090,;LST1,intron_variant,,ENST00000376092,;LST1,intron_variant,,ENST00000376089,;LST1,intron_variant,,ENST00000418507,;LST1,intron_variant,,ENST00000376096,;LST1,intron_variant,,ENST00000211921,;NCR3,downstream_gene_variant,,ENST00000340027,;NCR3,downstream_gene_variant,,ENST00000376071,;NCR3,downstream_gene_variant,,ENST00000376073,;NCR3,downstream_gene_variant,,ENST00000376072,;LST1,non_coding_transcript_exon_variant,,ENST00000419073,;NCR3,downstream_gene_variant,,ENST00000491161,;NCR3,downstream_gene_variant,,ENST00000495600,;LST1,non_coding_transcript_exon_variant,,ENST00000464526,;LST1,intron_variant,,ENST00000460834,;	158	42	39	SUCCESS
OCM2	4951	.	GRCh37	7	97614246	97614246	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	83	0	ENST00000257627.4:c.*24A>G			ENST00000257627	NM_006188.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5653.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCTCTTTT	NONE	.	.	.	.	.	ENSP00000257627	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000257627	Transcript	.	.	ENSG00000135175	34396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OCM2_HUMAN	OCM2	HGNC	.	.	UPI000013CF74	SNV	OCM2,3_prime_UTR_variant,,ENST00000257627,;OCM2,downstream_gene_variant,,ENST00000473987,;	446	83	84	SUCCESS
LY6E	4061	.	GRCh37	8	144103352	144103352	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	9	0	ENST00000292494.6:c.*146C>A			ENST00000292494	NM_002346.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6394.1	.	MUTECT|MUSE	.	CTCCACCTGCC	NONE	.	.	.	.	.	ENSP00000428572	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000520466	Transcript	.	.	ENSG00000160932	6727	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LY6E_HUMAN	LY6E	HGNC	Q7Z787_HUMAN	.	UPI00000374A7	SNV	LY6E,3_prime_UTR_variant,,ENST00000519546,;LY6E,3_prime_UTR_variant,,ENST00000520466,;LY6E,3_prime_UTR_variant,,ENST00000522971,;LY6E,3_prime_UTR_variant,,ENST00000521182,;LY6E,3_prime_UTR_variant,,ENST00000521699,;LY6E,3_prime_UTR_variant,,ENST00000292494,;LY6E,3_prime_UTR_variant,,ENST00000517503,;LY6E,3_prime_UTR_variant,,ENST00000429120,;LY6E,intron_variant,,ENST00000523847,;LY6E,downstream_gene_variant,,ENST00000520531,;LY6E,downstream_gene_variant,,ENST00000519611,;LY6E,downstream_gene_variant,,ENST00000522024,;LY6E,downstream_gene_variant,,ENST00000522528,;LY6E,downstream_gene_variant,,ENST00000521003,;RP11-273G15.2,upstream_gene_variant,,ENST00000517833,;RP11-273G15.2,upstream_gene_variant,,ENST00000522060,;RP11-273G15.2,upstream_gene_variant,,ENST00000502167,;RP11-273G15.2,upstream_gene_variant,,ENST00000518831,;LY6E,upstream_gene_variant,,ENST00000519615,;	945	9	11	SUCCESS
NOTCH1	4851	.	GRCh37	9	139390420	139390421	+	3_prime_UTR_variant	3'UTR	DEL	TG	TG	-	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	22	0	ENST00000277541.6:c.*102_*103del			ENST00000277541	NM_017617.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43905.1	.	INDELOCATOR|VARSCANI	.	AAAACATGTGTTT	NONE	.	.	.	.	.	ENSP00000277541	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000277541	Transcript	.	.	ENSG00000148400	7881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NOTC1_HUMAN	NOTCH1	HGNC	H9CXX2_HUMAN	.	UPI0000210F68	deletion	NOTCH1,3_prime_UTR_variant,,ENST00000277541,;	7846-7847	22	19	SUCCESS
GAGE1	2543	.	GRCh37	X	49370674	49370674	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACG-01	TCGA-DD-AACG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	102	125	0	ENST00000381709.2:c.*133A>G			ENST00000381709				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43950.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGAAGTTC	NONE	.	.	.	.	.	ENSP00000371119	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000381700	Transcript	.	.	ENSG00000205777	4098	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAGE4_HUMAN	GAGE1	HGNC	.	.	UPI00001AEF2C	SNV	GAGE1,3_prime_UTR_variant,,ENST00000381700,;GAGE1,3_prime_UTR_variant,,ENST00000381709,;	484	125	120	SUCCESS
BNC1	646	.	GRCh37	15	83925999	83925999	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	16	0	ENST00000345382.2:c.*195A>G			ENST00000345382	NM_001717.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10324.1	.	RADIA|MUTECT|MUSE	.	AATAATAGGAA	NONE	.	.	.	.	.	ENSP00000307041	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000345382	Transcript	.	.	ENSG00000169594	1081	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BNC1_HUMAN	BNC1	HGNC	.	.	UPI0000126796	SNV	BNC1,3_prime_UTR_variant,,ENST00000345382,;BNC1,downstream_gene_variant,,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;	3266	16	11	SUCCESS
MON1B	22879	.	GRCh37	16	77233473	77233473	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1193111337	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	32	108	0	ENST00000248248.3:c.*1268G>T			ENST00000248248	NM_014940.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10925.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCGTCCCA	NONE	.	.	.	.	.	ENSP00000248248	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000248248	Transcript	.	.	ENSG00000103111	25020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MON1B_HUMAN	MON1B	HGNC	H3BUX9_HUMAN,H3BU99_HUMAN,H3BR21_HUMAN,H3BPL8_HUMAN	.	UPI0000072AD7	SNV	MON1B,3_prime_UTR_variant,,ENST00000248248,;SYCE1L,intron_variant,,ENST00000378644,;MON1B,downstream_gene_variant,,ENST00000320859,;MON1B,downstream_gene_variant,,ENST00000567291,;MON1B,downstream_gene_variant,,ENST00000439557,;MON1B,downstream_gene_variant,,ENST00000545553,;RP11-538I12.2,downstream_gene_variant,,ENST00000569032,;MON1B,non_coding_transcript_exon_variant,,ENST00000566455,;	3262	108	55	SUCCESS
CLDN7	1366	.	GRCh37	17	7163679	7163679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	28	68	0	ENST00000360325.7:c.*14T>A			ENST00000360325	NM_001307.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11096.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGCAAGGAG	NONE	.	.	.	.	.	ENSP00000353475	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360325	Transcript	.	.	ENSG00000181885	2049	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD7_HUMAN	CLDN7	HGNC	K7EP40_HUMAN,I3L3L6_HUMAN	.	UPI0000140171	SNV	CLDN7,3_prime_UTR_variant,,ENST00000397317,;CLDN7,3_prime_UTR_variant,,ENST00000538261,;CLDN7,3_prime_UTR_variant,,ENST00000360325,;CLDN7,downstream_gene_variant,,ENST00000574070,;ELP5,downstream_gene_variant,,ENST00000354429,;ELP5,downstream_gene_variant,,ENST00000574993,;ELP5,downstream_gene_variant,,ENST00000573513,;ELP5,downstream_gene_variant,,ENST00000576496,;CLDN7,downstream_gene_variant,,ENST00000571932,;CLDN7,downstream_gene_variant,,ENST00000575313,;ELP5,downstream_gene_variant,,ENST00000356683,;ELP5,downstream_gene_variant,,ENST00000396627,;ELP5,downstream_gene_variant,,ENST00000396628,;ELP5,downstream_gene_variant,,ENST00000570322,;CLDN7,downstream_gene_variant,,ENST00000571881,;ELP5,downstream_gene_variant,,ENST00000573699,;ELP5,downstream_gene_variant,,ENST00000572104,;CLDN7,downstream_gene_variant,,ENST00000573745,;RP1-4G17.5,intron_variant,,ENST00000577138,;ELP5,downstream_gene_variant,,ENST00000571146,;	1085	68	35	SUCCESS
CYP4F3	4051	.	GRCh37	19	15770377	15770377	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	11	42	0	ENST00000221307.8:c.*182A>G			ENST00000221307	NM_000896.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12332.1	.	MUTECT|MUSE	.	GCCCTATTCAC	NONE	.	.	.	.	.	ENSP00000221307	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000221307	Transcript	.	.	ENSG00000186529	2646	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CP4F3_HUMAN	CYP4F3	HGNC	B7Z5A8_HUMAN	.	UPI0000052BE3	SNV	CYP4F3,3_prime_UTR_variant,,ENST00000585846,;CYP4F3,3_prime_UTR_variant,,ENST00000221307,;CYP4F3,3_prime_UTR_variant,,ENST00000591058,;CYP4F3,3_prime_UTR_variant,,ENST00000586182,;CYP4F3,upstream_gene_variant,,ENST00000588886,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000592424,;CYP4F10P,upstream_gene_variant,,ENST00000589560,;	1792	42	51	SUCCESS
OR7D2	162998	.	GRCh37	19	9298167	9298168	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs201359716	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	24	31	65	0	ENST00000344248.2:c.*778dup			ENST00000344248	NM_175883.2			0	.	T:0.0688	.	T:0.0058	.	T	.	protein_coding	YES	CCDS32900.1	.	INDELOCATOR|VARSCANI	.	GTTTTCTTTTT	NONE	byFrequency|byCluster|by1000G	.	.	T:0.001	.	ENSP00000345563	T:0	1/1	.	.	.	.	.	.	.	.	rs201359716	1/1	PASS	ENST00000344248	Transcript	.	T:0.0192	ENSG00000188000	8378	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	OR7D2_HUMAN	OR7D2	HGNC	.	.	UPI0000041C0C	insertion	OR7D2,3_prime_UTR_variant,,ENST00000344248,;OR7E16P,upstream_gene_variant,,ENST00000592975,;TCEB1P29,upstream_gene_variant,,ENST00000588193,;	1889-1890	66	55	SUCCESS
TARDBP	23435	.	GRCh37	1	11083034	11083034	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	37	0	ENST00000240185.3:c.*323A>C			ENST00000240185	NM_007375.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS122.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGAATTCTT	NONE	.	.	.	.	.	ENSP00000240185	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000240185	Transcript	.	.	ENSG00000120948	11571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TADBP_HUMAN	TARDBP	HGNC	K7EJM5_HUMAN	.	UPI0000136B42	SNV	TARDBP,3_prime_UTR_variant,,ENST00000240185,;TARDBP,intron_variant,,ENST00000315091,;TARDBP,downstream_gene_variant,,ENST00000473118,;TARDBP,downstream_gene_variant,,ENST00000439080,;MASP2,downstream_gene_variant,,ENST00000400897,;TARDBP,downstream_gene_variant,,ENST00000476201,;TARDBP,upstream_gene_variant,,ENST00000480464,;TARDBP,intron_variant,,ENST00000477447,;TARDBP,intron_variant,,ENST00000473869,;TARDBP,downstream_gene_variant,,ENST00000472476,;TARDBP,upstream_gene_variant,,ENST00000496840,;	1682	37	26	SUCCESS
CEBPB	1051	.	GRCh37	20	48809182	48809182	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	36	119	0	ENST00000303004.3:c.*574T>C			ENST00000303004	NM_005194.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13429.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATAAACT	NONE	.	.	.	.	.	ENSP00000305422	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303004	Transcript	.	.	ENSG00000172216	1834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEBPB_HUMAN	CEBPB	HGNC	Q9BSC0_HUMAN	.	UPI000000D8BA	SNV	CEBPB,3_prime_UTR_variant,,ENST00000303004,;	1807	119	97	SUCCESS
MSH6	2956	.	GRCh37	2	48035183	48035183	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	16	0	ENST00000234420.5:c.*1184T>G			ENST00000234420	NM_000179.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54357.1	.	MUTECT|MUSE	.	AATATTTTAAA	NONE	.	.	.	.	.	ENSP00000384823	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000403359	Transcript	.	.	ENSG00000138081	13590	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX11_HUMAN	FBXO11	HGNC	E7EP88_HUMAN,C9IYF0_HUMAN,B5MCV6_HUMAN	.	UPI00005793B7	SNV	FBXO11,3_prime_UTR_variant,,ENST00000316377,;FBXO11,3_prime_UTR_variant,,ENST00000403359,;MSH6,3_prime_UTR_variant,,ENST00000234420,;FBXO11,3_prime_UTR_variant,,ENST00000402508,;FBXO11,3_prime_UTR_variant,,ENST00000434523,;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000538136,;FBXO11,downstream_gene_variant,,ENST00000493962,;MSH6,downstream_gene_variant,,ENST00000540021,;FBXO11,3_prime_UTR_variant,,ENST00000434234,;FBXO11,non_coding_transcript_exon_variant,,ENST00000465204,;FBXO11,downstream_gene_variant,,ENST00000470899,;MSH6,downstream_gene_variant,,ENST00000445503,;	2931	16	15	SUCCESS
SOX11	6664	.	GRCh37	2	5841128	5841128	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	29	69	0	ENST00000322002.3:c.*6949A>C			ENST00000322002	NM_003108.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCTACCTGA	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	8330	69	80	SUCCESS
LIAS	11019	.	GRCh37	4	39482004	39482004	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	13	0				ENST00000261434	NM_006859.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3453.1	.	MUTECT|MUSE	.	GGATGCGCCGA	NONE	.	2731	.	.	.	ENSP00000261434	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000261434	Transcript	1	.	ENSG00000121897	16429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIAS_HUMAN	LIAS	HGNC	.	.	UPI000004EE9F	SNV	LIAS,downstream_gene_variant,,ENST00000381846,;LIAS,downstream_gene_variant,,ENST00000513731,;LIAS,downstream_gene_variant,,ENST00000261434,;LIAS,downstream_gene_variant,,ENST00000340169,;RP11-472B18.1,non_coding_transcript_exon_variant,,ENST00000597991,;RP11-472B18.1,non_coding_transcript_exon_variant,,ENST00000513652,;RP11-472B18.1,upstream_gene_variant,,ENST00000507033,;	.	13	20	SUCCESS
AC116366.6	0	.	GRCh37	5	131811415	131811415	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	4	61	0				ENST00000443093				0	.	.	.	.	.	C	.	antisense	YES	.	.	MUTECT|MUSE	.	TGACCTGGGCG	NONE	.	2680	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000443093	Transcript	.	.	ENSG00000234290	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC116366.6	Clone_based_vega_gene	.	.	.	SNV	C5orf56,missense_variant,p.Trp49Arg,ENST00000378953,;C5orf56,downstream_gene_variant,,ENST00000407797,;AC116366.6,upstream_gene_variant,,ENST00000443093,;C5orf56,non_coding_transcript_exon_variant,,ENST00000464024,;	.	61	84	SUCCESS
TMEM200A	114801	.	GRCh37	6	130763545	130763545	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	23	53	0	ENST00000296978.3:c.*502A>T			ENST00000296978	NM_001258277.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5140.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTAGTGTG	NONE	.	.	.	.	.	ENSP00000376224	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392429	Transcript	.	.	ENSG00000164484	21075	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T200A_HUMAN	TMEM200A	HGNC	B4DG12_HUMAN,A8K2A1_HUMAN	.	UPI000000DA85	SNV	TMEM200A,3_prime_UTR_variant,,ENST00000392429,;TMEM200A,3_prime_UTR_variant,,ENST00000296978,;TMEM200A,downstream_gene_variant,,ENST00000545622,;	4356	53	36	SUCCESS
FOXC1	2296	.	GRCh37	6	1613791	1613791	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1561677137	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	211	85	201	0	ENST00000380874.2:c.*1449G>A			ENST00000380874	NM_001453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4473.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTGGTTTC	NONE	.	.	.	.	.	ENSP00000370256	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380874	Transcript	.	.	ENSG00000054598	3800	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXC1_HUMAN	FOXC1	HGNC	C6KMR8_HUMAN	.	UPI000012ADC5	SNV	FOXC1,3_prime_UTR_variant,,ENST00000380874,;	3111	201	297	SUCCESS
PDP1	54704	.	GRCh37	8	94936844	94936849	+	3_prime_UTR_variant	3'UTR	DEL	TAAAGA	TAAAGA	-	novel	.	TCGA-DD-AACH-01	TCGA-DD-AACH-10	TAAAGA	TAAAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	58	29	56	0	ENST00000297598.4:c.*944_*949del			ENST00000297598	NM_018444.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS55262.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATTTTAAAGATGACA	NONE	.	.	.	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	deletion	PDP1,3_prime_UTR_variant,,ENST00000396200,;PDP1,3_prime_UTR_variant,,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000517764,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000520728,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	2908-2913	56	87	SUCCESS
NANOS1	340719	.	GRCh37	10	120790969	120790969	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	16	153	0	ENST00000425699.1:c.*777T>C			ENST00000425699	NM_199461.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7607.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGTATAACTT	NONE	.	.	.	.	.	ENSP00000393275	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000425699	Transcript	1	.	ENSG00000188613	23044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NANO1_HUMAN	NANOS1	HGNC	Q5T9H5_HUMAN	.	UPI00001D68E9	SNV	NANOS1,3_prime_UTR_variant,,ENST00000340087,;NANOS1,3_prime_UTR_variant,,ENST00000425699,;EIF3A,downstream_gene_variant,,ENST00000541549,;EIF3A,downstream_gene_variant,,ENST00000369144,;	1742	153	113	SUCCESS
ZWINT	11130	.	GRCh37	10	58117673	58117673	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	16	0	ENST00000373944.3:c.*315A>G			ENST00000373944				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7249.1	.	MUTECT|MUSE	.	CTGCATCATAG	NONE	.	.	.	.	.	ENSP00000363055	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000373944	Transcript	.	.	ENSG00000122952	13195	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZWINT_HUMAN	ZWINT	HGNC	A6NH27_HUMAN	.	UPI000013CB09	SNV	ZWINT,3_prime_UTR_variant,,ENST00000395405,;ZWINT,3_prime_UTR_variant,,ENST00000373944,;ZWINT,3_prime_UTR_variant,,ENST00000318387,;ZWINT,downstream_gene_variant,,ENST00000361148,;ZWINT,non_coding_transcript_exon_variant,,ENST00000460654,;ZWINT,downstream_gene_variant,,ENST00000467523,;ZWINT,downstream_gene_variant,,ENST00000478181,;ZWINT,3_prime_UTR_variant,,ENST00000489649,;ZWINT,non_coding_transcript_exon_variant,,ENST00000494312,;	1188	16	12	SUCCESS
MUC5B	727897	.	GRCh37	11	1282937	1282937	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	25	0	ENST00000529681.1:c.*99C>T			ENST00000529681	NM_002458.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44515.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGCCTGTG	NONE	.	.	.	.	.	ENSP00000436812	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000529681	Transcript	.	.	ENSG00000117983	7516	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUC5B_HUMAN	MUC5B	HGNC	Q93043_HUMAN	.	UPI0001DD21C7	SNV	MUC5B,3_prime_UTR_variant,,ENST00000529681,;MUC5B,3_prime_UTR_variant,,ENST00000447027,;MUC5B,intron_variant,,ENST00000526859,;MUC5B,downstream_gene_variant,,ENST00000527802,;	17446	25	33	SUCCESS
PRRG4	79056	.	GRCh37	11	32875132	32875132	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	26	0	ENST00000257836.3:c.*59T>G			ENST00000257836	NM_024081.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7881.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GTGGCTCATGC	NONE	.	.	.	.	.	ENSP00000257836	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000257836	Transcript	.	.	ENSG00000135378	30799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMG4_HUMAN	PRRG4	HGNC	.	.	UPI000013707A	SNV	PRRG4,3_prime_UTR_variant,,ENST00000257836,;	993	26	13	SUCCESS
TMEM258	746	.	GRCh37	11	61557259	61557259	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	75	0	ENST00000257262.8:c.*8A>T			ENST00000257262				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8009.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCTTGGGT	NONE	.	.	.	.	.	ENSP00000443216	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000537328	Transcript	.	.	ENSG00000134825	1164	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM258_HUMAN	TMEM258	HGNC	F5H7Z5_HUMAN	.	UPI000000109F	SNV	TMEM258,splice_region_variant,,ENST00000537328,;TMEM258,splice_region_variant,,ENST00000543510,;FEN1,upstream_gene_variant,,ENST00000535723,;MYRF,downstream_gene_variant,,ENST00000278836,;FEN1,upstream_gene_variant,,ENST00000305885,;MYRF,downstream_gene_variant,,ENST00000389602,;FADS2,upstream_gene_variant,,ENST00000574708,;MYRF,downstream_gene_variant,,ENST00000265460,;MIR611,downstream_gene_variant,,ENST00000384869,;TMEM258,splice_region_variant,,ENST00000535042,;TMEM258,splice_region_variant,,ENST00000545210,;TMEM258,splice_region_variant,,ENST00000541893,;TMEM258,3_prime_UTR_variant,,ENST00000257262,;TMEM258,intron_variant,,ENST00000535297,;TMEM258,downstream_gene_variant,,ENST00000540434,;MYRF,downstream_gene_variant,,ENST00000539361,;	300	75	61	SUCCESS
FUT4	2526	.	GRCh37	11	94281892	94281892	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	49	130	0	ENST00000358752.2:c.*3000C>G			ENST00000358752	NM_002033.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTCCTATG	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	4876	130	105	SUCCESS
CMKLR1	1240	.	GRCh37	12	108685482	108685482	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	27	0	ENST00000312143.7:c.*136A>C			ENST00000312143	NM_001142344.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44965.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGCATAAAAC	NONE	.	.	.	.	.	ENSP00000311733	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000312143	Transcript	.	.	ENSG00000174600	2121	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CML1_HUMAN	CMKLR1	HGNC	F8VYN7_HUMAN,F8VSC8_HUMAN	.	UPI0000127BD4	SNV	CMKLR1,3_prime_UTR_variant,,ENST00000312143,;CMKLR1,3_prime_UTR_variant,,ENST00000397688,;CMKLR1,3_prime_UTR_variant,,ENST00000552995,;CMKLR1,3_prime_UTR_variant,,ENST00000412676,;CMKLR1,3_prime_UTR_variant,,ENST00000550402,;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;	1622	27	26	SUCCESS
KCNA5	3741	.	GRCh37	12	5155567	5155567	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	13	68	1	ENST00000252321.3:c.*412T>C			ENST00000252321	NM_002234.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTATTTT	NONE	.	.	.	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,3_prime_UTR_variant,,ENST00000252321,;	2483	69	83	SUCCESS
GPR84	53831	.	GRCh37	12	54756289	54756289	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	12	84	0	ENST00000267015.3:c.*156T>C			ENST00000267015	NM_020370.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8878.1	.	MUTECT|MUSE	.	GGCTGAAACAT	NONE	.	.	.	.	.	ENSP00000450310	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000551809	Transcript	.	.	ENSG00000139572	4535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR84_HUMAN	GPR84	HGNC	.	.	UPI00000421DF	SNV	GPR84,3_prime_UTR_variant,,ENST00000551809,;GPR84,3_prime_UTR_variant,,ENST00000267015,;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;	1983	84	84	SUCCESS
ARHGAP9	64333	.	GRCh37	12	57874572	57874572	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	153	7	122	0				ENST00000393791	NM_032496.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8941.2	.	MUTECT|MUSE	.	ACTCCTCTTTT	NONE	.	939	.	.	.	ENSP00000377380	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000393791	Transcript	.	.	ENSG00000123329	14130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG09_HUMAN	ARHGAP9	HGNC	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN	.	UPI000007131B	SNV	ARHGAP9,missense_variant,p.Glu50Gly,ENST00000550288,;ARHGAP9,missense_variant,p.Glu42Gly,ENST00000393797,;ARHGAP9,upstream_gene_variant,,ENST00000552604,;ARHGAP9,upstream_gene_variant,,ENST00000430041,;ARHGAP9,upstream_gene_variant,,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000356411,;ARHGAP9,upstream_gene_variant,,ENST00000552249,;ARHGAP9,upstream_gene_variant,,ENST00000393791,;ARHGAP9,upstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000548139,;ARHGAP9,upstream_gene_variant,,ENST00000552066,;ARHGAP9,upstream_gene_variant,,ENST00000424809,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,upstream_gene_variant,,ENST00000550454,;ARHGAP9,upstream_gene_variant,,ENST00000551000,;ARHGAP9,upstream_gene_variant,,ENST00000552420,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000546200,;ARHGAP9,upstream_gene_variant,,ENST00000551574,;ARHGAP9,upstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000548148,;	.	122	160	SUCCESS
C1RL	51279	.	GRCh37	12	7248953	7248953	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	11	0	ENST00000266542.4:c.*34G>T			ENST00000266542	NM_016546.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8573.1	.	MUTECT|MUSE	.	CTCCACTGTGC	NONE	.	.	.	.	.	ENSP00000266542	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000266542	Transcript	.	.	ENSG00000139178	21265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C1RL_HUMAN	C1RL	HGNC	.	.	UPI0000EE67FA	SNV	C1RL,3_prime_UTR_variant,,ENST00000266542,;C1RL,intron_variant,,ENST00000545280,;C1RL,downstream_gene_variant,,ENST00000534950,;C1RL,downstream_gene_variant,,ENST00000543933,;C1R,upstream_gene_variant,,ENST00000540242,;C1R,upstream_gene_variant,,ENST00000540610,;C1RL,downstream_gene_variant,,ENST00000544702,;C1R,upstream_gene_variant,,ENST00000536053,;C1R,upstream_gene_variant,,ENST00000538050,;C1R,upstream_gene_variant,,ENST00000542285,;C1R,upstream_gene_variant,,ENST00000542220,;C1R,upstream_gene_variant,,ENST00000543835,;C1R,upstream_gene_variant,,ENST00000541042,;C1R,upstream_gene_variant,,ENST00000535233,;C1RL,intron_variant,,ENST00000504702,;C1RL,intron_variant,,ENST00000539803,;C1R,upstream_gene_variant,,ENST00000536092,;C1RL,downstream_gene_variant,,ENST00000537833,;C1R,upstream_gene_variant,,ENST00000545466,;C1R,upstream_gene_variant,,ENST00000540394,;C1RL,downstream_gene_variant,,ENST00000534969,;C1R,upstream_gene_variant,,ENST00000543362,;	1591	11	24	SUCCESS
BTG1	694	.	GRCh37	12	92537689	92537689	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	11	0	ENST00000256015.3:c.*167A>G			ENST00000256015	NM_001731.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9043.1	.	MUTECT|MUSE	.	AACTATGGCAC	NONE	.	.	.	.	.	ENSP00000256015	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000256015	Transcript	.	.	ENSG00000133639	1130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTG1_HUMAN	BTG1	HGNC	Q6IBC8_HUMAN,F8W0U7_HUMAN	.	UPI00000246C2	SNV	BTG1,3_prime_UTR_variant,,ENST00000256015,;BTG1,downstream_gene_variant,,ENST00000552315,;C12orf79,upstream_gene_variant,,ENST00000549802,;C12orf79,upstream_gene_variant,,ENST00000551563,;C12orf79,upstream_gene_variant,,ENST00000546975,;RP11-796E2.4,upstream_gene_variant,,ENST00000501008,;RP11-796E2.4,upstream_gene_variant,,ENST00000499685,;C12orf79,upstream_gene_variant,,ENST00000551843,;C12orf79,upstream_gene_variant,,ENST00000553207,;C12orf79,upstream_gene_variant,,ENST00000552106,;C12orf79,upstream_gene_variant,,ENST00000548552,;	1045	11	12	SUCCESS
UTP14C	9724	.	GRCh37	13	52606490	52606490	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs564826881	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	83	0	ENST00000521776.2:c.*1249A>G			ENST00000521776	NM_021645.5			0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS31978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTAGGAAT	NONE	by1000G	.	.	G:0	.	ENSP00000428619	G:0	2/2	.	.	.	.	.	.	.	.	rs564826881	2/2	PASS	ENST00000521776	Transcript	.	G:0.0002	ENSG00000253797	20321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	UT14C_HUMAN	UTP14C	HGNC	.	.	UPI000006DB4B	SNV	UTP14C,3_prime_UTR_variant,,ENST00000521776,;ALG11,downstream_gene_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000521508,;ALG11,downstream_gene_variant,,ENST00000519151,;NEK5,downstream_gene_variant,,ENST00000529080,;NEK5,downstream_gene_variant,,ENST00000465811,;	4283	83	48	SUCCESS
UTP14C	9724	.	GRCh37	13	52607696	52607696	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	13	95	0	ENST00000521776.2:c.*2455A>T			ENST00000521776	NM_021645.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31978.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGAAAC	NONE	.	.	.	.	.	ENSP00000428619	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000521776	Transcript	.	.	ENSG00000253797	20321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UT14C_HUMAN	UTP14C	HGNC	.	.	UPI000006DB4B	SNV	UTP14C,3_prime_UTR_variant,,ENST00000521776,;ALG11,downstream_gene_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000521508,;ALG11,downstream_gene_variant,,ENST00000519151,;NEK5,downstream_gene_variant,,ENST00000529080,;NEK5,downstream_gene_variant,,ENST00000465811,;	5489	95	68	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79589515	79589515	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	64	17	81	0	ENST00000421388.2:c.*2281T>A			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGATCCCAG	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	4358	81	81	SUCCESS
SNN	8303	.	GRCh37	16	11772998	11772998	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	9	104	0	ENST00000329565.5:c.*2816T>C			ENST00000329565	NM_003498.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32387.1	.	MUTECT|MUSE|VARSCANS	.	ATAAATATATT	NONE	.	.	.	.	.	ENSP00000283033	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000283033	Transcript	.	.	ENSG00000153066	28030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TXD11_HUMAN	TXNDC11	HGNC	.	.	UPI000006FCC0	SNV	TXNDC11,3_prime_UTR_variant,,ENST00000356957,;TXNDC11,3_prime_UTR_variant,,ENST00000283033,;SNN,3_prime_UTR_variant,,ENST00000329565,;TXNDC11,non_coding_transcript_exon_variant,,ENST00000570917,;	3078	104	110	SUCCESS
SPNS1	83985	.	GRCh37	16	28996206	28996206	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	104	18	110	0				ENST00000311008	NM_032038.2	8		0	.	.	.	.	.	T	W/C	protein_coding	YES	CCDS53999.1	24	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGCAGGT	NONE	.	.	hmmpanther:PTHR15586	.	.	ENSP00000378845	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000395461	Transcript	.	.	ENSG00000213658	18874	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.028)	.	.	.	.	LAT	HGNC	B7WPI0_HUMAN	.	UPI00005A7621	SNV	LAT,missense_variant,p.Trp8Cys,ENST00000395461,;SPNS1,downstream_gene_variant,,ENST00000311008,;SPNS1,downstream_gene_variant,,ENST00000352260,;LAT,upstream_gene_variant,,ENST00000354453,;LAT,upstream_gene_variant,,ENST00000564277,;SPNS1,downstream_gene_variant,,ENST00000565975,;SPNS1,downstream_gene_variant,,ENST00000334536,;SPNS1,downstream_gene_variant,,ENST00000566059,;LAT,upstream_gene_variant,,ENST00000570232,;LAT,upstream_gene_variant,,ENST00000395456,;SPNS1,downstream_gene_variant,,ENST00000323081,;SPNS1,downstream_gene_variant,,ENST00000568829,;LAT,upstream_gene_variant,,ENST00000360872,;SPNS1,downstream_gene_variant,,ENST00000564476,;LAT,upstream_gene_variant,,ENST00000566177,;LAT,upstream_gene_variant,,ENST00000454369,;RP11-264B17.5,downstream_gene_variant,,ENST00000561471,;SPNS1,downstream_gene_variant,,ENST00000561868,;LAT,upstream_gene_variant,,ENST00000563964,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;LAT,upstream_gene_variant,,ENST00000562472,;LAT,upstream_gene_variant,,ENST00000566270,;LAT,upstream_gene_variant,,ENST00000564447,;LAT,upstream_gene_variant,,ENST00000566415,;SPNS1,downstream_gene_variant,,ENST00000568900,;LAT,upstream_gene_variant,,ENST00000568440,;LAT,upstream_gene_variant,,ENST00000568899,;LAT,upstream_gene_variant,,ENST00000562701,;	60	110	122	SUCCESS
HEXIM1	10614	.	GRCh37	17	43227728	43227728	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	223	37	225	0	ENST00000332499.2:c.*91T>C			ENST00000332499	NM_006460.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11495.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGACCTTTTTA	NONE	.	.	.	.	.	ENSP00000328773	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332499	Transcript	.	.	ENSG00000186834	24953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HEXI1_HUMAN	HEXIM1	HGNC	.	.	UPI000006E405	SNV	HEXIM1,3_prime_UTR_variant,,ENST00000332499,;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;	3045	225	260	SUCCESS
CA4	762	.	GRCh37	17	58236797	58236797	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs564813136	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	16	94	0	ENST00000300900.4:c.*12T>A			ENST00000300900	NM_000717.3			0	.	G:0	.	G:0	.	A	.	protein_coding	YES	CCDS11624.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCTGCACG	NONE	by1000G	.	.	G:0	.	ENSP00000300900	G:0	8/8	.	.	.	.	.	.	.	.	rs564813136	8/8	PASS	ENST00000300900	Transcript	.	G:0.0002	ENSG00000167434	1375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	CAH4_HUMAN	CA4	HGNC	Q6FHI7_HUMAN,K7ENI8_HUMAN	.	UPI000004EC91	SNV	CA4,3_prime_UTR_variant,,ENST00000300900,;CA4,3_prime_UTR_variant,,ENST00000590203,;CA4,downstream_gene_variant,,ENST00000587265,;CA4,downstream_gene_variant,,ENST00000591725,;CA4,intron_variant,,ENST00000586876,;CA4,downstream_gene_variant,,ENST00000585705,;	1050	94	94	SUCCESS
PIK3R5	23533	.	GRCh37	17	8783786	8783786	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	2	9	0	ENST00000447110.1:c.*170G>C			ENST00000447110	NM_001251855.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11147.1	.	MUTECT|MUSE	.	CAGAACCCTGA	NONE	.	.	.	.	.	ENSP00000392812	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000447110	Transcript	.	.	ENSG00000141506	30035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PI3R5_HUMAN	PIK3R5	HGNC	L7RT34_HUMAN,J3KT66_HUMAN,J3KRE9_HUMAN	.	UPI0000071DB4	SNV	PIK3R5,3_prime_UTR_variant,,ENST00000585260,;PIK3R5,3_prime_UTR_variant,,ENST00000581552,;PIK3R5,3_prime_UTR_variant,,ENST00000447110,;PIK3R5,downstream_gene_variant,,ENST00000584803,;PIK3R5,downstream_gene_variant,,ENST00000578743,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,downstream_gene_variant,,ENST00000583810,;PIK3R5,downstream_gene_variant,,ENST00000577214,;PIK3R5,downstream_gene_variant,,ENST00000578515,;	2938	9	14	SUCCESS
GALNT1	2589	.	GRCh37	18	33289830	33289830	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	24	0	ENST00000269195.5:c.*96G>T			ENST00000269195	NM_020474.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11915.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTGCTTTC	NONE	.	.	.	.	.	ENSP00000269195	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000269195	Transcript	.	.	ENSG00000141429	4123	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT1_HUMAN	GALNT1	HGNC	K7EJV8_HUMAN,F5GY99_HUMAN	.	UPI00001311FC	SNV	GALNT1,3_prime_UTR_variant,,ENST00000269195,;GALNT1,downstream_gene_variant,,ENST00000537549,;GALNT1,3_prime_UTR_variant,,ENST00000589189,;GALNT1,downstream_gene_variant,,ENST00000590654,;	1879	24	21	SUCCESS
THEG	51298	.	GRCh37	19	362077	362077	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1600202867	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	32	0	ENST00000342640.4:c.*123A>G			ENST00000342640	NM_016585.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12025.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTATTGT	NONE	.	.	.	.	.	ENSP00000340088	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000342640	Transcript	.	.	ENSG00000105549	13706	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THEG_HUMAN	THEG	HGNC	.	.	UPI000006E5C6	SNV	THEG,3_prime_UTR_variant,,ENST00000342640,;THEG,3_prime_UTR_variant,,ENST00000530711,;THEG,downstream_gene_variant,,ENST00000346878,;	1306	32	22	SUCCESS
ZNF83	55769	.	GRCh37	19	53116213	53116213	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	32	0	ENST00000301096.3:c.*54T>A			ENST00000301096	NM_018300.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12854.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTATAAAT	NONE	.	.	.	.	.	ENSP00000472619	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597597	Transcript	.	.	ENSG00000167766	13158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF83_HUMAN	ZNF83	HGNC	H9XFB5_HUMAN	.	UPI000013E6CF	SNV	ZNF83,3_prime_UTR_variant,,ENST00000536937,;ZNF83,3_prime_UTR_variant,,ENST00000594682,;ZNF83,3_prime_UTR_variant,,ENST00000301096,;ZNF83,3_prime_UTR_variant,,ENST00000544146,;ZNF83,3_prime_UTR_variant,,ENST00000545872,;ZNF83,3_prime_UTR_variant,,ENST00000597597,;ZNF83,3_prime_UTR_variant,,ENST00000541777,;ZNF83,intron_variant,,ENST00000601257,;ZNF83,intron_variant,,ENST00000600714,;ZNF83,downstream_gene_variant,,ENST00000598536,;ZNF83,downstream_gene_variant,,ENST00000596930,;ZNF83,downstream_gene_variant,,ENST00000391789,;ZNF83,downstream_gene_variant,,ENST00000597161,;ZNF83,downstream_gene_variant,,ENST00000595171,;ZNF83,downstream_gene_variant,,ENST00000601140,;ZNF83,downstream_gene_variant,,ENST00000595939,;	3859	32	34	SUCCESS
SUV420H2	0	.	GRCh37	19	55858819	55858819	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	3	34	0	ENST00000255613.3:c.*2A>T			ENST00000255613	NM_032701.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12922.1	.	MUTECT|MUSE	.	GTGACAGGCCG	NONE	.	.	.	.	.	ENSP00000255613	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000255613	Transcript	.	.	ENSG00000133247	28405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SV422_HUMAN	SUV420H2	HGNC	.	.	UPI000000DABC	SNV	SUV420H2,3_prime_UTR_variant,,ENST00000255613,;COX6B2,downstream_gene_variant,,ENST00000326529,;COX6B2,downstream_gene_variant,,ENST00000590900,;COX6B2,downstream_gene_variant,,ENST00000593184,;AC020922.1,downstream_gene_variant,,ENST00000539076,;COX6B2,downstream_gene_variant,,ENST00000588572,;SUV420H2,downstream_gene_variant,,ENST00000402499,;SUV420H2,downstream_gene_variant,,ENST00000460956,;COX6B2,downstream_gene_variant,,ENST00000586191,;SUV420H2,downstream_gene_variant,,ENST00000587442,;COX6B2,downstream_gene_variant,,ENST00000589879,;COX6B2,downstream_gene_variant,,ENST00000588586,;SUV420H2,3_prime_UTR_variant,,ENST00000445196,;SUV420H2,downstream_gene_variant,,ENST00000592631,;SUV420H2,downstream_gene_variant,,ENST00000474492,;SUV420H2,downstream_gene_variant,,ENST00000464185,;SUV420H2,downstream_gene_variant,,ENST00000589338,;SUV420H2,downstream_gene_variant,,ENST00000498738,;CTD-2105E13.6,downstream_gene_variant,,ENST00000591954,;SUV420H2,downstream_gene_variant,,ENST00000468951,;	1639	34	47	SUCCESS
RPS28	6234	.	GRCh37	19	8387768	8387768	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs775205855	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	38	0	ENST00000600659.2:c.*629A>C			ENST00000600659	NM_001031.4	807		0	.	.	.	.	.	C	G	protein_coding	YES	CCDS12199.1	2421	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCACCAGG	NONE	.	.	hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF22	.	.	ENSP00000328923	.	11/11	.	.	.	.	.	.	.	.	rs775205855	11/11	PASS	ENST00000330915	Transcript	.	.	ENSG00000186994	24796	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KANK3_HUMAN	KANK3	HGNC	.	.	UPI000004FDF5	SNV	KANK3,synonymous_variant,p.%3D,ENST00000330915,;RPS28,3_prime_UTR_variant,,ENST00000600659,;KANK3,downstream_gene_variant,,ENST00000593649,;NDUFA7,upstream_gene_variant,,ENST00000301457,;RPS28,non_coding_transcript_exon_variant,,ENST00000449223,;NDUFA7,upstream_gene_variant,,ENST00000601101,;NDUFA7,upstream_gene_variant,,ENST00000593729,;NDUFA7,upstream_gene_variant,,ENST00000595856,;NDUFA7,upstream_gene_variant,,ENST00000598884,;RPS28,downstream_gene_variant,,ENST00000417088,;NDUFA7,upstream_gene_variant,,ENST00000602059,;RPS28,downstream_gene_variant,,ENST00000602140,;	2487	38	52	SUCCESS
KISS1R	84634	.	GRCh37	19	920895	920895	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	28	259	0	ENST00000234371.5:c.*147T>A			ENST00000234371	NM_032551.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12049.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCGTTGTGAA	NONE	.	.	.	.	.	ENSP00000234371	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000234371	Transcript	1	.	ENSG00000116014	4510	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KISSR_HUMAN	KISS1R	HGNC	.	.	UPI0000070700	SNV	KISS1R,3_prime_UTR_variant,,ENST00000234371,;KISS1R,downstream_gene_variant,,ENST00000592648,;KISS1R,downstream_gene_variant,,ENST00000606939,;ARID3A,upstream_gene_variant,,ENST00000585895,;	1497	259	276	SUCCESS
HAX1	10456	.	GRCh37	1	154243398	154243398	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	7	60	0				ENST00000328703	NM_006118.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1063.1	.	MUTECT|MUSE	.	TAAGTATTACT	NONE	.	70	.	.	.	ENSP00000389445	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428931	Transcript	.	.	ENSG00000143569	29877	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP2L_HUMAN	UBAP2L	HGNC	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN	.	UPI000013E257	SNV	UBAP2L,3_prime_UTR_variant,,ENST00000433615,;UBAP2L,3_prime_UTR_variant,,ENST00000271877,;HAX1,upstream_gene_variant,,ENST00000435087,;HAX1,upstream_gene_variant,,ENST00000328703,;UBAP2L,downstream_gene_variant,,ENST00000428595,;HAX1,upstream_gene_variant,,ENST00000483970,;HAX1,upstream_gene_variant,,ENST00000532105,;UBAP2L,downstream_gene_variant,,ENST00000361546,;HAX1,upstream_gene_variant,,ENST00000457918,;UBAP2L,downstream_gene_variant,,ENST00000428931,;UBAP2L,non_coding_transcript_exon_variant,,ENST00000493867,;UBAP2L,downstream_gene_variant,,ENST00000484819,;HAX1,upstream_gene_variant,,ENST00000531435,;HAX1,upstream_gene_variant,,ENST00000447768,;HAX1,upstream_gene_variant,,ENST00000471326,;HAX1,upstream_gene_variant,,ENST00000492550,;HAX1,upstream_gene_variant,,ENST00000477780,;HAX1,upstream_gene_variant,,ENST00000459914,;	.	60	133	SUCCESS
CD1E	913	.	GRCh37	1	158326761	158326761	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	5	38	0				ENST00000368167	NM_030893.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41417.1	.	MUTECT|MUSE	.	AAGCATGCTTT	NONE	.	23	.	.	.	ENSP00000357149	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368167	Transcript	.	.	ENSG00000158488	1638	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1E_HUMAN	CD1E	HGNC	Q13974_HUMAN	.	UPI000046F8C2	SNV	CD1E,3_prime_UTR_variant,,ENST00000368162,;CD1E,3_prime_UTR_variant,,ENST00000368163,;CD1E,3_prime_UTR_variant,,ENST00000368166,;CD1E,3_prime_UTR_variant,,ENST00000444681,;CD1E,3_prime_UTR_variant,,ENST00000368161,;CD1E,3_prime_UTR_variant,,ENST00000368160,;CD1E,3_prime_UTR_variant,,ENST00000368164,;CD1E,downstream_gene_variant,,ENST00000368165,;CD1E,downstream_gene_variant,,ENST00000434258,;CD1E,downstream_gene_variant,,ENST00000368154,;CD1E,downstream_gene_variant,,ENST00000368167,;CD1E,downstream_gene_variant,,ENST00000368156,;CD1E,downstream_gene_variant,,ENST00000368155,;CD1E,downstream_gene_variant,,ENST00000452291,;CD1E,downstream_gene_variant,,ENST00000368157,;CD1E,downstream_gene_variant,,ENST00000464822,;	.	38	87	SUCCESS
ARHGAP30	257106	.	GRCh37	1	161016886	161016886	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	312	118	199	0	ENST00000368013.3:c.*619C>T			ENST00000368013	NM_181720.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30918.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGAGCCCAG	NONE	.	.	.	.	.	ENSP00000356992	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000368013	Transcript	.	.	ENSG00000186517	27414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG30_HUMAN	ARHGAP30	HGNC	.	.	UPI0000160677	SNV	ARHGAP30,3_prime_UTR_variant,,ENST00000368013,;ARHGAP30,3_prime_UTR_variant,,ENST00000368016,;ARHGAP30,3_prime_UTR_variant,,ENST00000368015,;USF1,upstream_gene_variant,,ENST00000435396,;USF1,upstream_gene_variant,,ENST00000531842,;USF1,upstream_gene_variant,,ENST00000368019,;USF1,upstream_gene_variant,,ENST00000368021,;USF1,upstream_gene_variant,,ENST00000534633,;USF1,upstream_gene_variant,,ENST00000368020,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;USF1,upstream_gene_variant,,ENST00000496363,;ARHGAP30,downstream_gene_variant,,ENST00000490279,;USF1,upstream_gene_variant,,ENST00000473969,;USF1,upstream_gene_variant,,ENST00000491629,;USF1,upstream_gene_variant,,ENST00000529476,;	4246	199	431	SUCCESS
SZRD1	26099	.	GRCh37	1	16721854	16721854	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	36	0	ENST00000401088.4:c.*219A>T			ENST00000401088	NM_001114600.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44065.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGACAAGGGCT	NONE	.	.	.	.	.	ENSP00000383866	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401088	Transcript	.	.	ENSG00000055070	30232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SZRD1_HUMAN	SZRD1	HGNC	.	.	UPI00001A92CC	SNV	SZRD1,3_prime_UTR_variant,,ENST00000375590,;SZRD1,3_prime_UTR_variant,,ENST00000471507,;SZRD1,3_prime_UTR_variant,,ENST00000492354,;SZRD1,3_prime_UTR_variant,,ENST00000401088,;SZRD1,3_prime_UTR_variant,,ENST00000401089,;SPATA21,intron_variant,,ENST00000491418,;SPATA21,downstream_gene_variant,,ENST00000335496,;SPATA21,downstream_gene_variant,,ENST00000540400,;SZRD1,non_coding_transcript_exon_variant,,ENST00000472351,;SZRD1,downstream_gene_variant,,ENST00000475554,;SZRD1,downstream_gene_variant,,ENST00000486763,;SZRD1,downstream_gene_variant,,ENST00000472461,;SPATA21,downstream_gene_variant,,ENST00000466212,;SZRD1,downstream_gene_variant,,ENST00000475078,;SZRD1,downstream_gene_variant,,ENST00000476423,;	853	36	23	SUCCESS
LAX1	54900	.	GRCh37	1	203743958	203743958	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	19	0	ENST00000442561.2:c.*149A>T			ENST00000442561	NM_017773.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1441.2	.	MUTECT|MUSE	.	GAACTAAGAGG	NONE	.	.	.	.	.	ENSP00000406970	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000442561	Transcript	.	.	ENSG00000122188	26005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAX1_HUMAN	LAX1	HGNC	.	.	UPI000007446D	SNV	LAX1,3_prime_UTR_variant,,ENST00000442561,;LAX1,downstream_gene_variant,,ENST00000367217,;LAX1,non_coding_transcript_exon_variant,,ENST00000367215,;	1736	19	52	SUCCESS
ANGEL2	90806	.	GRCh37	1	213168331	213168331	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	210	22	96	0	ENST00000366962.3:c.*52G>C			ENST00000366962	NM_144567.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1512.1	.	MUTECT|MUSE|VARSCANS	.	ACATTCTTTGA	NONE	.	.	.	.	.	ENSP00000355929	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000366962	Transcript	.	.	ENSG00000174606	30534	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANGE2_HUMAN	ANGEL2	HGNC	.	.	UPI00001D3EF4	SNV	ANGEL2,3_prime_UTR_variant,,ENST00000360506,;ANGEL2,3_prime_UTR_variant,,ENST00000544555,;ANGEL2,3_prime_UTR_variant,,ENST00000366962,;ANGEL2,3_prime_UTR_variant,,ENST00000540642,;ANGEL2,downstream_gene_variant,,ENST00000535388,;VASH2,downstream_gene_variant,,ENST00000366965,;VASH2,downstream_gene_variant,,ENST00000366968,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000473303,;ANGEL2,downstream_gene_variant,,ENST00000498650,;VASH2,downstream_gene_variant,,ENST00000519906,;	1842	96	232	SUCCESS
ZMYM6NB	0	.	GRCh37	1	35447522	35447522	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1342277777	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	12	65	0	ENST00000373337.3:c.*23A>G			ENST00000373337	NM_001195156.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53296.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCATGGCAT	NONE	.	.	.	.	.	ENSP00000362435	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373337	Transcript	.	.	ENSG00000243749	40021	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMYNB_HUMAN	ZMYM6NB	HGNC	.	.	UPI000006ED8A	SNV	ZMYM6NB,3_prime_UTR_variant,,ENST00000373337,;ZMYM6,downstream_gene_variant,,ENST00000373340,;RP11-244H3.1,upstream_gene_variant,,ENST00000311990,;RP11-244H3.1,intron_variant,,ENST00000417456,;ZMYM6,downstream_gene_variant,,ENST00000493328,;RP11-244H3.4,3_prime_UTR_variant,,ENST00000487874,;	536	65	54	SUCCESS
YTHDF1	54915	.	GRCh37	20	61827884	61827884	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	16	0	ENST00000370339.3:c.*176A>G			ENST00000370339	NM_017798.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13511.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATACATA	NONE	.	.	.	.	.	ENSP00000359364	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370339	Transcript	.	.	ENSG00000149658	15867	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YTHD1_HUMAN	YTHDF1	HGNC	F8W840_HUMAN	.	UPI0000128DD9	SNV	YTHDF1,3_prime_UTR_variant,,ENST00000370334,;YTHDF1,3_prime_UTR_variant,,ENST00000370339,;YTHDF1,3_prime_UTR_variant,,ENST00000370333,;	2198	16	18	SUCCESS
TMEM211	255349	.	GRCh37	22	25331229	25331229	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	29	0	ENST00000423535.1:c.*71T>A			ENST00000423535				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33624.1	.	MUTECT|MUSE	.	ATGGGATTTGA	NONE	.	.	.	.	.	ENSP00000385494	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000407886	Transcript	.	.	ENSG00000206069	33725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM211_HUMAN	TMEM211	HGNC	.	.	UPI0000160696	SNV	TMEM211,3_prime_UTR_variant,,ENST00000423535,;TMEM211,3_prime_UTR_variant,,ENST00000407886,;TMEM211,3_prime_UTR_variant,,ENST00000382744,;	714	29	30	SUCCESS
CBY1	25776	.	GRCh37	22	39069334	39069334	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	20	70	0	ENST00000216029.3:c.*93A>G			ENST00000216029	NM_015373.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13974.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATATAATG	NONE	.	.	.	.	.	ENSP00000380026	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000396811	Transcript	.	.	ENSG00000100211	1307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBY1_HUMAN	CBY1	HGNC	B0QY54_HUMAN,B0QY53_HUMAN	.	UPI0000128720	SNV	CBY1,3_prime_UTR_variant,,ENST00000396811,;CBY1,3_prime_UTR_variant,,ENST00000216029,;CBY1,downstream_gene_variant,,ENST00000416285,;CBY1,downstream_gene_variant,,ENST00000411557,;RP3-508I15.9,intron_variant,,ENST00000444381,;RP3-508I15.9,intron_variant,,ENST00000431924,;RP3-508I15.9,upstream_gene_variant,,ENST00000422408,;RP3-508I15.10,upstream_gene_variant,,ENST00000423346,;RP3-508I15.9,downstream_gene_variant,,ENST00000412067,;CBY1,non_coding_transcript_exon_variant,,ENST00000489847,;CBY1,downstream_gene_variant,,ENST00000485501,;CBY1,downstream_gene_variant,,ENST00000467118,;CBY1,downstream_gene_variant,,ENST00000492576,;CBY1,downstream_gene_variant,,ENST00000492537,;CBY1,downstream_gene_variant,,ENST00000475924,;	752	70	51	SUCCESS
SNTG2	54221	.	GRCh37	2	1371307	1371307	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	40	0	ENST00000308624.5:c.*61G>T			ENST00000308624	NM_018968.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTGCAGAA	NONE	.	.	.	.	.	ENSP00000311837	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000308624	Transcript	.	.	ENSG00000172554	13741	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNTG2_HUMAN	SNTG2	HGNC	.	.	UPI0000456D73	SNV	SNTG2,3_prime_UTR_variant,,ENST00000308624,;SNTG2,3_prime_UTR_variant,,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000472606,;SNTG2,downstream_gene_variant,,ENST00000471239,;	1810	40	63	SUCCESS
SCG2	7857	.	GRCh37	2	224462067	224462067	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	6	34	0	ENST00000305409.2:c.*80T>A			ENST00000305409	NM_003469.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2457.1	.	MUTECT|MUSE	.	AGGATAGAAGT	NONE	.	.	.	.	.	ENSP00000304133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305409	Transcript	.	.	ENSG00000171951	10575	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCG2_HUMAN	SCG2	HGNC	C9JQI2_HUMAN,C9JDT0_HUMAN	.	UPI000013EA45	SNV	SCG2,3_prime_UTR_variant,,ENST00000305409,;SCG2,downstream_gene_variant,,ENST00000433889,;SCG2,downstream_gene_variant,,ENST00000421386,;	2167	34	35	SUCCESS
CCK	885	.	GRCh37	3	42299426	42299426	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	38	0	ENST00000334681.5:c.*164T>C			ENST00000334681				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2696.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCACTGGA	NONE	.	.	.	.	.	ENSP00000379472	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000396169	Transcript	.	.	ENSG00000187094	1569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCKN_HUMAN	CCK	HGNC	Q6FG82_HUMAN	.	UPI00001272C3	SNV	CCK,3_prime_UTR_variant,,ENST00000396169,;CCK,3_prime_UTR_variant,,ENST00000334681,;CCK,3_prime_UTR_variant,,ENST00000434608,;	1418	38	23	SUCCESS
PDZRN3	23024	.	GRCh37	3	73432500	73432500	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	74	0	ENST00000263666.4:c.*16T>A			ENST00000263666	NM_015009.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33789.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACATAATGCA	NONE	.	.	.	.	.	ENSP00000263666	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263666	Transcript	.	.	ENSG00000121440	17704	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PZRN3_HUMAN	PDZRN3	HGNC	E7ENB6_HUMAN	.	UPI00001C1DE6	SNV	PDZRN3,3_prime_UTR_variant,,ENST00000466780,;PDZRN3,3_prime_UTR_variant,,ENST00000263666,;PDZRN3,3_prime_UTR_variant,,ENST00000494559,;PDZRN3,3_prime_UTR_variant,,ENST00000462146,;PDZRN3,3_prime_UTR_variant,,ENST00000479530,;PDZRN3,3_prime_UTR_variant,,ENST00000535920,;PDZRN3,downstream_gene_variant,,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000484487,;PDZRN3,downstream_gene_variant,,ENST00000478209,;	3332	74	78	SUCCESS
HAUS3	79441	.	GRCh37	4	2233496	2233496	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	92	0	ENST00000243706.4:c.*158A>G			ENST00000243706	NM_024511.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33941.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTACTAC	NONE	.	.	.	.	.	ENSP00000243706	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000243706	Transcript	.	.	ENSG00000214367	28719	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HAUS3_HUMAN	HAUS3	HGNC	D6R993_HUMAN	.	UPI000020BA32	SNV	HAUS3,3_prime_UTR_variant,,ENST00000243706,;HAUS3,intron_variant,,ENST00000506763,;POLN,intron_variant,,ENST00000511885,;HAUS3,downstream_gene_variant,,ENST00000443786,;POLN,upstream_gene_variant,,ENST00000382865,;POLN,intron_variant,,ENST00000515357,;POLN,intron_variant,,ENST00000506518,;COX6B1P5,upstream_gene_variant,,ENST00000509843,;	2200	92	97	SUCCESS
PCDHB5	26167	.	GRCh37	5	140517420	140517420	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs13177760	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	159	25	163	0	ENST00000231134.5:c.*16G>A			ENST00000231134	NM_015669.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4247.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGACGCGTTG	NONE	byCluster|byHapMap	.	.	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	rs13177760	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,3_prime_UTR_variant,,ENST00000231134,;	2621	163	184	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562781	140562781	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	65	0				ENST00000239444	NM_019120.3	216		0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS4251.1	647	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGATGGTG	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Asp216Val,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1802	65	62	SUCCESS
PCDHB8	56128	.	GRCh37	5	140564589	140564589	+	downstream_gene_variant	3'Flank	SNP	A	A	T	rs545805395	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	7	88	0				ENST00000239444	NM_019120.3			0	.	C:0	.	C:0	.	T	.	protein_coding	YES	CCDS4251.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTCATGCTC	NONE	by1000G	.	.	C:0	.	ENSP00000354293	C:0.001	1/1	.	.	.	.	.	.	.	.	rs545805395	1/1	PASS	ENST00000361016	Transcript	.	C:0.0002	ENSG00000196963	14546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,3_prime_UTR_variant,,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	3610	88	64	SUCCESS
NDST1	3340	.	GRCh37	5	149933100	149933100	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	11	0	ENST00000261797.6:c.*206G>A			ENST00000261797	NM_001543.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34277.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TAAGGGACCTC	NONE	.	.	.	.	.	ENSP00000261797	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000261797	Transcript	1	.	ENSG00000070614	7680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NDST1_HUMAN	NDST1	HGNC	E5RGN9_HUMAN,E5RG58_HUMAN,E5RG24_HUMAN	.	UPI000012CDA5	SNV	NDST1,3_prime_UTR_variant,,ENST00000261797,;NDST1,3_prime_UTR_variant,,ENST00000523767,;NDST1,non_coding_transcript_exon_variant,,ENST00000521752,;	3357	11	13	SUCCESS
FOXQ1	94234	.	GRCh37	6	1314585	1314585	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	19	95	0	ENST00000296839.2:c.*434A>T			ENST00000296839	NM_033260.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4471.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGTACGTAT	NONE	.	.	.	.	.	ENSP00000296839	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000296839	Transcript	.	.	ENSG00000164379	20951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXQ1_HUMAN	FOXQ1	HGNC	.	.	UPI000013E397	SNV	FOXQ1,3_prime_UTR_variant,,ENST00000296839,;	1911	95	107	SUCCESS
SLC17A2	10246	.	GRCh37	6	25926067	25926067	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	78	0				ENST00000265425				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4567.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTTCCCTG	NONE	.	.	.	.	.	ENSP00000353677	.	2/11	.	.	.	.	.	.	.	.	.	2/11	PASS	ENST00000360488	Transcript	.	.	ENSG00000112337	10930	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT3_HUMAN	SLC17A2	HGNC	.	.	UPI0000000DB7	SNV	SLC17A2,5_prime_UTR_variant,,ENST00000377850,;SLC17A2,5_prime_UTR_variant,,ENST00000360488,;SLC17A2,upstream_gene_variant,,ENST00000265425,;	376	78	90	SUCCESS
SLC22A7	10864	.	GRCh37	6	43272478	43272478	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	78	0	ENST00000372585.5:c.*15A>T			ENST00000372585	NM_153320.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4893.2	.	MUTECT|MUSE|VARSCANS	.	GAGGCAGGCCC	NONE	.	.	.	.	.	ENSP00000361666	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000372585	Transcript	.	.	ENSG00000137204	10971	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S22A7_HUMAN	SLC22A7	HGNC	.	.	UPI000006F307	SNV	SLC22A7,3_prime_UTR_variant,,ENST00000372589,;SLC22A7,3_prime_UTR_variant,,ENST00000372585,;CRIP3,intron_variant,,ENST00000416431,;CRIP3,downstream_gene_variant,,ENST00000451294,;SLC22A7,downstream_gene_variant,,ENST00000449231,;CRIP3,downstream_gene_variant,,ENST00000274990,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000372574,;CRIP3,downstream_gene_variant,,ENST00000372569,;SLC22A7,downstream_gene_variant,,ENST00000451757,;ZNF318,downstream_gene_variant,,ENST00000607252,;SLC22A7,downstream_gene_variant,,ENST00000487175,;CRIP3,downstream_gene_variant,,ENST00000487744,;CRIP3,downstream_gene_variant,,ENST00000485819,;CRIP3,downstream_gene_variant,,ENST00000477866,;SLC22A7,downstream_gene_variant,,ENST00000498232,;	1757	78	100	SUCCESS
PEG10	23089	.	GRCh37	7	94296482	94296482	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	63	0	ENST00000482108.1:c.*2636C>A			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTCCCTTGC	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	4093	63	76	SUCCESS
PABPC1	26986	.	GRCh37	8	101715478	101715478	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	14	0	ENST00000318607.5:c.*111A>G			ENST00000318607	NM_002568.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6289.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTATTTA	NONE	.	.	.	.	.	ENSP00000313007	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000318607	Transcript	.	.	ENSG00000070756	8554	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PABP1_HUMAN	PABPC1	HGNC	H0YB75_HUMAN,E7EQV3_HUMAN,E5RJM8_HUMAN,E5RJB9_HUMAN,E5RHG7_HUMAN,E5RH24_HUMAN,E5RGH3_HUMAN,E5RGC4_HUMAN,E5RFD8_HUMAN	.	UPI0000000BC4	SNV	PABPC1,3_prime_UTR_variant,,ENST00000519004,;PABPC1,3_prime_UTR_variant,,ENST00000522387,;PABPC1,3_prime_UTR_variant,,ENST00000520868,;PABPC1,3_prime_UTR_variant,,ENST00000318607,;PABPC1,intron_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000517403,;PABPC1,downstream_gene_variant,,ENST00000522658,;PABPC1,downstream_gene_variant,,ENST00000517990,;AP001205.1,downstream_gene_variant,,ENST00000579868,;PABPC1,downstream_gene_variant,,ENST00000519596,;PABPC1,downstream_gene_variant,,ENST00000519848,;PABPC1,downstream_gene_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000518716,;	3151	14	34	SUCCESS
NPR2	4882	.	GRCh37	9	35809525	35809525	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs970886339	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	56	0	ENST00000342694.2:c.*83A>G			ENST00000342694	NM_003995.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6590.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGAAATGGAC	NONE	.	.	.	.	.	ENSP00000341083	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000342694	Transcript	.	.	ENSG00000159899	7944	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANPRB_HUMAN	NPR2	HGNC	.	.	UPI0000125B42	SNV	NPR2,3_prime_UTR_variant,,ENST00000342694,;SPAG8,intron_variant,,ENST00000340291,;NPR2,intron_variant,,ENST00000447210,;SPAG8,downstream_gene_variant,,ENST00000497810,;HINT2,downstream_gene_variant,,ENST00000259667,;TMEM8B,upstream_gene_variant,,ENST00000377996,;SPAG8,downstream_gene_variant,,ENST00000484764,;NPR2,downstream_gene_variant,,ENST00000421267,;SPAG8,downstream_gene_variant,,ENST00000396638,;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,non_coding_transcript_exon_variant,,ENST00000489063,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000490578,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,downstream_gene_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000461169,;NPR2,3_prime_UTR_variant,,ENST00000448821,;SPAG8,3_prime_UTR_variant,,ENST00000475644,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;SPAG8,intron_variant,,ENST00000460836,;SPAG8,downstream_gene_variant,,ENST00000471631,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000472605,;NPR2,downstream_gene_variant,,ENST00000469249,;	3482	56	86	SUCCESS
AGTR2	186	.	GRCh37	X	115304969	115304969	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	224	39	133	0	ENST00000371906.4:c.*344T>C			ENST00000371906	NM_000686.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14569.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCATTTTTAT	NONE	.	.	.	.	.	ENSP00000360973	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371906	Transcript	.	.	ENSG00000180772	338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AGTR2_HUMAN	AGTR2	HGNC	Q6UVH2_HUMAN	.	UPI0000125687	SNV	AGTR2,3_prime_UTR_variant,,ENST00000371906,;	1626	133	264	SUCCESS
MBNL3	55796	.	GRCh37	X	131513436	131513436	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	14	37	0	ENST00000370853.3:c.*258A>G			ENST00000370853	NM_018388.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14633.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTATGGTCA	NONE	.	.	.	.	.	ENSP00000359890	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000370853	Transcript	.	.	ENSG00000076770	20564	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBNL3_HUMAN	MBNL3	HGNC	B1AKI5_HUMAN,B1AKI4_HUMAN	.	UPI000012ED47	SNV	MBNL3,3_prime_UTR_variant,,ENST00000442191,;MBNL3,3_prime_UTR_variant,,ENST00000370849,;MBNL3,3_prime_UTR_variant,,ENST00000370857,;MBNL3,3_prime_UTR_variant,,ENST00000394311,;MBNL3,3_prime_UTR_variant,,ENST00000370844,;MBNL3,3_prime_UTR_variant,,ENST00000370853,;MBNL3,3_prime_UTR_variant,,ENST00000538204,;MBNL3,3_prime_UTR_variant,,ENST00000370839,;MBNL3,downstream_gene_variant,,ENST00000436215,;RAP2C-AS1,intron_variant,,ENST00000421483,;RAP2C-AS1,intron_variant,,ENST00000441399,;MBNL3,downstream_gene_variant,,ENST00000465964,;	1402	37	68	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910420	144910420	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	488	79	287	0				ENST00000370490				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14681.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATGTTATGGC	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1493	287	567	SUCCESS
SPRY3	10251	.	GRCh37	X	155007578	155007578	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	191	29	165	0	ENST00000302805.2:c.*3178A>C			ENST00000302805	NM_005840.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14769.4	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCCCATCTTC	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	4476	165	221	SUCCESS
AP1S2	8905	.	GRCh37	X	15845424	15845424	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs200662353	.	TCGA-DD-AACI-01	TCGA-DD-AACI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	33	64	0	ENST00000329235.2:c.*24C>T			ENST00000329235	NM_003916.4			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS14173.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAAGAAGTC	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000328789	T:0.001	5/5	.	.	.	.	.	.	.	.	rs200662353	5/5	PASS	ENST00000329235	Transcript	.	T:0.0003	ENSG00000182287	560	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	AP1S2_HUMAN	AP1S2	HGNC	Q549M9_HUMAN	.	UPI0000124FEC	SNV	AP1S2,3_prime_UTR_variant,,ENST00000452376,;AP1S2,3_prime_UTR_variant,,ENST00000329235,;AP1S2,downstream_gene_variant,,ENST00000421527,;ZRSR2,downstream_gene_variant,,ENST00000307771,;AP1S2,downstream_gene_variant,,ENST00000380291,;AP1S2,downstream_gene_variant,,ENST00000545766,;AP1S2,downstream_gene_variant,,ENST00000450644,;AP1S2,downstream_gene_variant,,ENST00000479184,;	742	64	101	SUCCESS
ARL3	403	.	GRCh37	10	104436596	104436596	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	17	0	ENST00000260746.5:c.*55del			ENST00000260746	NM_004311.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7538.1	.	INDELOCATOR|VARSCANI	.	TTAGTGTTTTTC	NONE	.	.	.	.	.	ENSP00000260746	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000260746	Transcript	.	.	ENSG00000138175	694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARL3_HUMAN	ARL3	HGNC	.	.	UPI0000125EE4	deletion	ARL3,3_prime_UTR_variant,,ENST00000260746,;	736	17	22	SUCCESS
CASC10	0	.	GRCh37	10	21784453	21784453	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	14	44	0	ENST00000377113.5:c.*76C>T			ENST00000377113	NM_001010911.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31163.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTAGGCTTA	NONE	.	.	.	.	.	ENSP00000366317	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377113	Transcript	.	.	ENSG00000204682	31448	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSC10_HUMAN	CASC10	HGNC	.	.	UPI0000198ED5	SNV	CASC10,3_prime_UTR_variant,,ENST00000377113,;MIR1915,downstream_gene_variant,,ENST00000410139,;	935	44	32	SUCCESS
ENTPD1	953	.	GRCh37	10	97626147	97626147	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs754891950	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	27	74	0	ENST00000371205.4:c.*7C>T			ENST00000371205				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53556.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGCAGCTG	NONE	byFrequency	.	.	.	.	ENSP00000360250	.	10/10	.	.	.	.	.	.	.	.	rs754891950	10/10	PASS	ENST00000371207	Transcript	1	.	ENSG00000138185	3363	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTP1_HUMAN	ENTPD1	HGNC	.	.	UPI0000EE3B3A	SNV	ENTPD1,3_prime_UTR_variant,,ENST00000453258,;ENTPD1,3_prime_UTR_variant,,ENST00000371205,;ENTPD1,3_prime_UTR_variant,,ENST00000539125,;ENTPD1,3_prime_UTR_variant,,ENST00000543964,;ENTPD1,3_prime_UTR_variant,,ENST00000371203,;ENTPD1,3_prime_UTR_variant,,ENST00000371207,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000451364,;RP11-429G19.3,intron_variant,,ENST00000433113,;RP11-248J23.7,intron_variant,,ENST00000491114,;	1639	74	61	SUCCESS
P2RY2	5029	.	GRCh37	11	72946720	72946721	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	83	30	87	0	ENST00000311131.2:c.*383dup			ENST00000311131	NM_176072.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8219.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCACATACCA	NONE	.	.	.	.	.	ENSP00000310305	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000311131	Transcript	.	.	ENSG00000175591	8541	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P2RY2_HUMAN	P2RY2	HGNC	.	.	UPI000013F103	insertion	P2RY2,3_prime_UTR_variant,,ENST00000393597,;P2RY2,3_prime_UTR_variant,,ENST00000311131,;P2RY2,3_prime_UTR_variant,,ENST00000393596,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	1983-1984	87	113	SUCCESS
GUCY2C	2984	.	GRCh37	12	14765959	14765959	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs1276690784	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	41	0	ENST00000261170.3:c.*92G>C			ENST00000261170	NM_004963.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8664.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTCTCAGG	NONE	.	.	.	.	.	ENSP00000261170	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000261170	Transcript	.	.	ENSG00000070019	4688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUC2C_HUMAN	GUCY2C	HGNC	.	.	UPI000013D135	SNV	GUCY2C,3_prime_UTR_variant,,ENST00000261170,;RP11-695J4.2,intron_variant,,ENST00000545424,;RP11-695J4.2,intron_variant,,ENST00000542401,;	3451	41	36	SUCCESS
FARP1	10160	.	GRCh37	13	99100633	99100633	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	73	0	ENST00000319562.6:c.*62A>G			ENST00000319562	NM_005766.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTATTAAT	NONE	.	.	.	.	.	ENSP00000322926	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000319562	Transcript	.	.	ENSG00000152767	3591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FARP1_HUMAN	FARP1	HGNC	M0QYB0_HUMAN	.	UPI000007052C	SNV	FARP1,3_prime_UTR_variant,,ENST00000376586,;FARP1,3_prime_UTR_variant,,ENST00000595437,;FARP1,3_prime_UTR_variant,,ENST00000319562,;STK24,downstream_gene_variant,,ENST00000397517,;STK24,downstream_gene_variant,,ENST00000539966,;STK24,downstream_gene_variant,,ENST00000376547,;STK24,downstream_gene_variant,,ENST00000376554,;FARP1,upstream_gene_variant,,ENST00000600380,;FARP1,upstream_gene_variant,,ENST00000597596,;FARP1,downstream_gene_variant,,ENST00000594346,;	3465	73	52	SUCCESS
C2CD4A	145741	.	GRCh37	15	62362686	62362686	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	92	82	233	0	ENST00000355522.5:c.*1764A>T			ENST00000355522	NM_207322.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32258.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAAATTGTT	NONE	.	.	.	.	.	ENSP00000347712	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355522	Transcript	.	.	ENSG00000198535	33627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2C4A_HUMAN	C2CD4A	HGNC	.	.	UPI0000140CF2	SNV	C2CD4A,3_prime_UTR_variant,,ENST00000355522,;	3015	233	175	SUCCESS
SENP8	123228	.	GRCh37	15	72433113	72433113	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	52	109	0	ENST00000340912.4:c.*510T>G			ENST00000340912	NM_145204.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10240.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTATGAG	NONE	.	.	.	.	.	ENSP00000441753	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000544411	Transcript	.	.	ENSG00000166192	22992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SENP8_HUMAN	SENP8	HGNC	H3BTK5_HUMAN,H3BTJ8_HUMAN,H3BS71_HUMAN	.	UPI0000135852	SNV	SENP8,3_prime_UTR_variant,,ENST00000544411,;SENP8,3_prime_UTR_variant,,ENST00000340912,;SENP8,3_prime_UTR_variant,,ENST00000542035,;SENP8,3_prime_UTR_variant,,ENST00000544171,;SENP8,downstream_gene_variant,,ENST00000564863,;SENP8,downstream_gene_variant,,ENST00000567794,;SENP8,downstream_gene_variant,,ENST00000564082,;RP11-2I17.4,intron_variant,,ENST00000568984,;	1636	109	111	SUCCESS
NFYC	4802	.	GRCh37	1	41237077	41237077	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	34	69	0	ENST00000308733.5:c.*577T>A			ENST00000308733				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44120.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCATTTAAG	NONE	.	266	.	.	.	ENSP00000396620	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425457	Transcript	.	.	ENSG00000066136	7806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFYC_HUMAN	NFYC	HGNC	Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN	.	UPI0000D4DA2D	SNV	NFYC,missense_variant,p.Phe161Ile,ENST00000414185,;NFYC,3_prime_UTR_variant,,ENST00000456393,;NFYC,3_prime_UTR_variant,,ENST00000308733,;NFYC,3_prime_UTR_variant,,ENST00000372652,;NFYC,3_prime_UTR_variant,,ENST00000447388,;NFYC,downstream_gene_variant,,ENST00000372669,;NFYC,downstream_gene_variant,,ENST00000427410,;NFYC,downstream_gene_variant,,ENST00000440226,;NFYC,downstream_gene_variant,,ENST00000372651,;NFYC,downstream_gene_variant,,ENST00000425457,;NFYC,downstream_gene_variant,,ENST00000372654,;NFYC,downstream_gene_variant,,ENST00000372653,;NFYC,downstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000496608,;NFYC,downstream_gene_variant,,ENST00000525349,;NFYC,downstream_gene_variant,,ENST00000488635,;NFYC,downstream_gene_variant,,ENST00000424419,;	.	69	64	SUCCESS
DPYSL5	56896	.	GRCh37	2	27169916	27169916	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	25	58	0	ENST00000288699.6:c.*53C>T			ENST00000288699	NM_001253724.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1730.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCAACTCTCC	NONE	.	.	.	.	.	ENSP00000288699	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000288699	Transcript	.	.	ENSG00000157851	20637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPYL5_HUMAN	DPYSL5	HGNC	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN	.	UPI00000411CF	SNV	DPYSL5,3_prime_UTR_variant,,ENST00000288699,;DPYSL5,3_prime_UTR_variant,,ENST00000401478,;AC013472.4,downstream_gene_variant,,ENST00000416226,;DPYSL5,non_coding_transcript_exon_variant,,ENST00000484882,;	1906	58	52	SUCCESS
DRD5	1816	.	GRCh37	4	9785589	9785589	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	25	60	0	ENST00000304374.2:c.*502T>C			ENST00000304374	NM_000798.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3405.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAGTATCCC	NONE	.	.	.	.	.	ENSP00000306129	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304374	Transcript	1	.	ENSG00000169676	3026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRD5_HUMAN	DRD5	HGNC	.	.	UPI000004E905	SNV	DRD5,3_prime_UTR_variant,,ENST00000304374,;SLC2A9,intron_variant,,ENST00000508585,;SLC2A9,intron_variant,,ENST00000503803,;	2332	60	43	SUCCESS
PURA	5813	.	GRCh37	5	139494970	139494970	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	397	157	505	1	ENST00000331327.3:c.*235A>G			ENST00000331327	NM_005859.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAAAACAGT	NONE	.	.	.	.	.	ENSP00000332706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331327	Transcript	1	.	ENSG00000185129	9701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PURA_HUMAN	PURA	HGNC	.	.	UPI0000132B76	SNV	PURA,3_prime_UTR_variant,,ENST00000331327,;PURA,downstream_gene_variant,,ENST00000505703,;PURA,downstream_gene_variant,,ENST00000502351,;	1263	506	554	SUCCESS
GCNT4	51301	.	GRCh37	5	74324388	74324388	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	15	19	0	ENST00000322348.4:c.*113G>C			ENST00000322348	NM_016591.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4026.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACACCTTTT	NONE	.	.	.	.	.	ENSP00000317027	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322348	Transcript	.	.	ENSG00000176928	17973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCNT4_HUMAN	GCNT4	HGNC	.	.	UPI00000380F7	SNV	GCNT4,3_prime_UTR_variant,,ENST00000322348,;CTD-2503O16.4,upstream_gene_variant,,ENST00000505200,;	2337	19	26	SUCCESS
C6orf58	352999	.	GRCh37	6	127912797	127912797	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1245993473	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	113	183	0	ENST00000329722.7:c.*30T>C			ENST00000329722	NM_001010905.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34533.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATTAATG	NONE	.	.	.	.	.	ENSP00000328069	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000329722	Transcript	.	.	ENSG00000184530	20960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF058_HUMAN	C6orf58	HGNC	.	.	UPI00001D80C9	SNV	C6orf58,3_prime_UTR_variant,,ENST00000329722,;	1035	183	200	SUCCESS
REPIN1	29803	.	GRCh37	7	150070685	150070685	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	65	0	ENST00000397281.2:c.*651T>G			ENST00000397281	NM_013400.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47745.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGTCTGTC	NONE	.	651	.	.	.	ENSP00000417291	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000489432	Transcript	.	.	ENSG00000214022	17922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	REPIN1	HGNC	E7EVL6_HUMAN,C9J3L7_HUMAN	.	UPI0001596898	SNV	REPIN1,3_prime_UTR_variant,,ENST00000425389,;REPIN1,3_prime_UTR_variant,,ENST00000397281,;REPIN1,3_prime_UTR_variant,,ENST00000444957,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000489432,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000540729,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000473391,;	.	65	44	SUCCESS
ZBED1	9189	.	GRCh37	X	2406666	2406666	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs770418143	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	43	117	0	ENST00000381218.3:c.*10G>T			ENST00000381218				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14118.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACACGCTTC	NONE	.	.	.	.	.	ENSP00000370621	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381223	Transcript	.	.	ENSG00000214717	447	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBED1_HUMAN	ZBED1	HGNC	C9JXP4_HUMAN	.	UPI0000073DE9	SNV	ZBED1,3_prime_UTR_variant,,ENST00000381223,;ZBED1,3_prime_UTR_variant,,ENST00000381222,;ZBED1,3_prime_UTR_variant,,ENST00000381218,;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000334651,;DHRSX,intron_variant,,ENST00000412516,;ZBED1,downstream_gene_variant,,ENST00000461691,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,intron_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	2299	117	107	SUCCESS
MED14	9282	.	GRCh37	X	40511055	40511055	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACJ-01	TCGA-DD-AACJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	171	251	0	ENST00000324817.1:c.*3A>T			ENST00000324817	NM_004229.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGTGTCTA	NONE	.	.	.	.	.	ENSP00000323720	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,3_prime_UTR_variant,,ENST00000324817,;MED14,intron_variant,,ENST00000416199,;MED14,downstream_gene_variant,,ENST00000433003,;CXorf38,upstream_gene_variant,,ENST00000327877,;CXorf38,upstream_gene_variant,,ENST00000378418,;CXorf38,upstream_gene_variant,,ENST00000378421,;CXorf38,upstream_gene_variant,,ENST00000440784,;CXorf38,upstream_gene_variant,,ENST00000378426,;	4487	251	210	SUCCESS
VAX1	11023	.	GRCh37	10	118891477	118891477	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	14	0				ENST00000369206	NM_001112704.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44483.1	.	MUTECT|MUSE	.	GCATTAGGAGG	NONE	.	1324	.	.	.	ENSP00000358207	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369206	Transcript	1	.	ENSG00000148704	12660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VAX1_HUMAN	VAX1	HGNC	.	.	UPI000013DB43	SNV	VAX1,3_prime_UTR_variant,,ENST00000277905,;VAX1,downstream_gene_variant,,ENST00000369206,;	.	14	19	SUCCESS
LRRK2	120892	.	GRCh37	12	40618839	40618839	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs538494701	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	36	0				ENST00000298910	NM_198578.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31774.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCTCGCC	NONE	.	37	.	.	.	ENSP00000298910	.	.	.	.	.	.	.	.	.	.	rs538494701	.	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,5_prime_UTR_variant,,ENST00000343742,;LRRK2,intron_variant,,ENST00000416796,;LRRK2,upstream_gene_variant,,ENST00000298910,;AC079630.4,upstream_gene_variant,,ENST00000412812,;LRRK2,upstream_gene_variant,,ENST00000474202,;	.	36	28	SUCCESS
MUC19	283463	.	GRCh37	12	40924277	40924277	+	intron_variant	Intron	SNP	G	G	A	rs978176099	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	21	0	ENST00000454784.4:c.*5783-12087G>A			ENST00000454784				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTAGGAGAA	NONE	.	.	.	.	.	ENSP00000476404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	49/83	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,missense_variant,p.Gly26Arg,ENST00000424466,;MUC19,intron_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000474954,;MUC19,upstream_gene_variant,,ENST00000423284,;	.	21	17	SUCCESS
ESR2	2100	.	GRCh37	14	64699774	64699774	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	18	0				ENST00000341099	NM_001437.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9762.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGATGAAG	NONE	.	32	.	.	.	ENSP00000343925	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000341099	Transcript	.	.	ENSG00000140009	3468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ESR2_HUMAN	ESR2	HGNC	Q7LCB3_HUMAN,G3V5S2_HUMAN	.	UPI0000000964	SNV	ESR2,3_prime_UTR_variant,,ENST00000557772,;ESR2,intron_variant,,ENST00000357782,;ESR2,intron_variant,,ENST00000553796,;ESR2,intron_variant,,ENST00000353772,;ESR2,intron_variant,,ENST00000555278,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000554572,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000358599,;ESR2,downstream_gene_variant,,ENST00000267525,;ESR2,downstream_gene_variant,,ENST00000341099,;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,downstream_gene_variant,,ENST00000554520,;ESR2,downstream_gene_variant,,ENST00000555783,;ESR2,intron_variant,,ENST00000344288,;	.	18	21	SUCCESS
ZFYVE26	23503	.	GRCh37	14	68215095	68215095	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1378892877	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	30	0	ENST00000347230.4:c.*58C>T			ENST00000347230	NM_015346.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9788.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATCGCCATC	NONE	.	.	.	.	.	ENSP00000251119	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000347230	Transcript	.	.	ENSG00000072121	20761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFY26_HUMAN	ZFYVE26	HGNC	.	.	UPI00001FD735	SNV	ZFYVE26,3_prime_UTR_variant,,ENST00000347230,;ZFYVE26,downstream_gene_variant,,ENST00000557306,;U3,upstream_gene_variant,,ENST00000516983,;RN7SL213P,downstream_gene_variant,,ENST00000463482,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,intron_variant,,ENST00000394455,;	7817	30	27	SUCCESS
TM2D3	80213	.	GRCh37	15	102182648	102182648	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	43	0	ENST00000333202.3:c.*34A>T			ENST00000333202	NM_078474.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10393.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCTAAGCC	NONE	.	.	.	.	.	ENSP00000330433	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000333202	Transcript	.	.	ENSG00000184277	24128	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM2D3_HUMAN	TM2D3	HGNC	B3KT51_HUMAN	.	UPI00001B02BE	SNV	TM2D3,3_prime_UTR_variant,,ENST00000347970,;TM2D3,3_prime_UTR_variant,,ENST00000561373,;TM2D3,3_prime_UTR_variant,,ENST00000333202,;TM2D3,intron_variant,,ENST00000558129,;TM2D3,intron_variant,,ENST00000428002,;TM2D3,intron_variant,,ENST00000559107,;TM2D3,3_prime_UTR_variant,,ENST00000560013,;TM2D3,non_coding_transcript_exon_variant,,ENST00000559891,;TM2D3,downstream_gene_variant,,ENST00000558677,;TM2D3,downstream_gene_variant,,ENST00000560910,;TM2D3,downstream_gene_variant,,ENST00000559024,;	784	43	33	SUCCESS
CASC5	0	.	GRCh37	15	40954464	40954464	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	34	0	ENST00000346991.5:c.*78G>T			ENST00000346991				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42023.1	.	MUTECT|MUSE	.	CCTTTGTTTTT	NONE	.	.	.	.	.	ENSP00000335463	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000346991	Transcript	1	.	ENSG00000137812	24054	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CASC5_HUMAN	CASC5	HGNC	.	.	UPI0000E59BD3	SNV	CASC5,3_prime_UTR_variant,,ENST00000346991,;CASC5,3_prime_UTR_variant,,ENST00000399668,;CASC5,upstream_gene_variant,,ENST00000531626,;CASC5,3_prime_UTR_variant,,ENST00000526913,;	7497	34	32	SUCCESS
TPM4	7171	.	GRCh37	19	16212280	16212280	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	49	113	0	ENST00000300933.4:c.*124A>T			ENST00000300933	NM_003290.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46007.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTATGAATACA	NONE	.	.	.	.	.	ENSP00000439135	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,3_prime_UTR_variant,,ENST00000538887,;TPM4,3_prime_UTR_variant,,ENST00000344824,;TPM4,3_prime_UTR_variant,,ENST00000300933,;CTD-2231E14.5,downstream_gene_variant,,ENST00000587693,;TPM4,non_coding_transcript_exon_variant,,ENST00000591645,;TPM4,non_coding_transcript_exon_variant,,ENST00000591226,;TPM4,intron_variant,,ENST00000588032,;	1066	113	115	SUCCESS
LY9	4063	.	GRCh37	1	160797738	160797738	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	23	0	ENST00000263285.6:c.*132G>T			ENST00000263285				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30916.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGCCCCT	NONE	.	.	.	.	.	ENSP00000263285	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263285	Transcript	.	.	ENSG00000122224	6730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LY9_HUMAN	LY9	HGNC	.	.	UPI00001416AF	SNV	LY9,3_prime_UTR_variant,,ENST00000368041,;LY9,3_prime_UTR_variant,,ENST00000368035,;LY9,3_prime_UTR_variant,,ENST00000341032,;LY9,3_prime_UTR_variant,,ENST00000368040,;LY9,3_prime_UTR_variant,,ENST00000392203,;LY9,3_prime_UTR_variant,,ENST00000368037,;LY9,3_prime_UTR_variant,,ENST00000263285,;CD244,downstream_gene_variant,,ENST00000322302,;CD244,downstream_gene_variant,,ENST00000368033,;CD244,downstream_gene_variant,,ENST00000368032,;CD244,downstream_gene_variant,,ENST00000368034,;CD244,downstream_gene_variant,,ENST00000481677,;CD244,downstream_gene_variant,,ENST00000492063,;	2130	23	17	SUCCESS
DPT	1805	.	GRCh37	1	168665630	168665630	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	16	0	ENST00000367817.3:c.*157T>A			ENST00000367817	NM_001937.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1275.1	.	MUTECT|MUSE	.	TAGTCAGAAAG	NONE	.	.	.	.	.	ENSP00000356791	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367817	Transcript	.	.	ENSG00000143196	3011	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DERM_HUMAN	DPT	HGNC	.	.	UPI0000032C11	SNV	DPT,3_prime_UTR_variant,,ENST00000367817,;	853	16	19	SUCCESS
MSTN	2660	.	GRCh37	2	190921841	190921841	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	18	0	ENST00000260950.4:c.*143A>T			ENST00000260950	NM_005259.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2303.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTTTAGTT	NONE	.	.	.	.	.	ENSP00000260950	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000260950	Transcript	.	.	ENSG00000138379	4223	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GDF8_HUMAN	MSTN	HGNC	Q53S46_HUMAN	.	UPI0000037254	SNV	MSTN,3_prime_UTR_variant,,ENST00000260950,;C2orf88,intron_variant,,ENST00000495546,;C2orf88,intron_variant,,ENST00000478197,;	1404	18	14	SUCCESS
PLCL1	5334	.	GRCh37	2	199011730	199011730	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	54	0	ENST00000428675.1:c.*44T>A			ENST00000428675	NM_006226.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2326.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCTGGTTT	NONE	.	.	.	.	.	ENSP00000402861	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000428675	Transcript	.	.	ENSG00000115896	9063	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCL1_HUMAN	PLCL1	HGNC	.	.	UPI000165BCF5	SNV	PLCL1,3_prime_UTR_variant,,ENST00000428675,;PLCL1,3_prime_UTR_variant,,ENST00000437704,;PLCL1,downstream_gene_variant,,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	3730	54	77	SUCCESS
ZNF638	27332	.	GRCh37	2	71662050	71662050	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	39	112	0	ENST00000264447.4:c.*113A>T			ENST00000264447	NM_001014972.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1917.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTACAAAT	NONE	.	.	.	.	.	ENSP00000386433	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000409544	Transcript	.	.	ENSG00000075292	17894	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN638_HUMAN	ZNF638	HGNC	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN	.	UPI000013D51B	SNV	ZNF638,3_prime_UTR_variant,,ENST00000409407,;ZNF638,3_prime_UTR_variant,,ENST00000409544,;ZNF638,3_prime_UTR_variant,,ENST00000264447,;ZNF638,3_prime_UTR_variant,,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000483421,;ZNF638,non_coding_transcript_exon_variant,,ENST00000493576,;ZNF638,non_coding_transcript_exon_variant,,ENST00000488126,;ZNF638,non_coding_transcript_exon_variant,,ENST00000461991,;ZNF638,downstream_gene_variant,,ENST00000472758,;ZNF638,downstream_gene_variant,,ENST00000460310,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;	6680	112	109	SUCCESS
TRAT1	50852	.	GRCh37	3	108572759	108572759	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs758217630	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	58	164	1	ENST00000295756.6:c.*35A>G			ENST00000295756	NM_016388.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33813.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTATTGAA	NONE	byFrequency	.	.	.	.	ENSP00000295756	.	6/6	.	.	.	.	.	.	.	.	rs758217630	6/6	PASS	ENST00000295756	Transcript	.	.	ENSG00000163519	30698	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAT1_HUMAN	TRAT1	HGNC	.	.	UPI00001147D3	SNV	TRAT1,3_prime_UTR_variant,,ENST00000295756,;TRAT1,3_prime_UTR_variant,,ENST00000426646,;	826	165	153	SUCCESS
ROBO2	6092	.	GRCh37	3	77695344	77695344	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	74	48	129	0	ENST00000461745.1:c.*138A>T			ENST00000461745	NM_002942.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54609.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACACAGCCAC	NONE	.	.	.	.	.	ENSP00000417335	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,3_prime_UTR_variant,,ENST00000490534,;ROBO2,3_prime_UTR_variant,,ENST00000332191,;ROBO2,3_prime_UTR_variant,,ENST00000461745,;ROBO2,3_prime_UTR_variant,,ENST00000487694,;ROBO2,downstream_gene_variant,,ENST00000475334,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;ROBO2,non_coding_transcript_exon_variant,,ENST00000470802,;	4602	129	122	SUCCESS
LAMTOR3	8649	.	GRCh37	4	100803039	100803039	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	67	0	ENST00000499666.2:c.*112T>C			ENST00000499666	NM_001243736.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3652.1	.	MUTECT|MUSE	.	GAAAAAGGGGC	NONE	.	.	.	.	.	ENSP00000424183	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000499666	Transcript	.	.	ENSG00000109270	15606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LTOR3_HUMAN	LAMTOR3	HGNC	.	.	UPI000012F194	SNV	LAMTOR3,3_prime_UTR_variant,,ENST00000499666,;LAMTOR3,3_prime_UTR_variant,,ENST00000226522,;LAMTOR3,non_coding_transcript_exon_variant,,ENST00000515100,;	680	67	56	SUCCESS
SLC12A2	6558	.	GRCh37	5	127522331	127522331	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs777663327	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	36	94	0	ENST00000262461.2:c.*8A>T			ENST00000262461	NM_001046.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4144.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCTATACAG	NONE	byFrequency	.	.	.	.	ENSP00000262461	.	27/27	.	.	.	.	.	.	.	.	rs777663327	27/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,3_prime_UTR_variant,,ENST00000343225,;SLC12A2,3_prime_UTR_variant,,ENST00000262461,;SLC12A2,downstream_gene_variant,,ENST00000507791,;SLC12A2,3_prime_UTR_variant,,ENST00000509205,;SLC12A2,downstream_gene_variant,,ENST00000502849,;	3836	94	112	SUCCESS
NR3C1	2908	.	GRCh37	5	142658923	142658923	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	62	0	ENST00000343796.2:c.*2531A>T			ENST00000343796	NM_001018075.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34258.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGATGAAAA	NONE	.	1804	.	.	.	ENSP00000231509	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231509	Transcript	1	.	ENSG00000113580	7978	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCR_HUMAN	NR3C1	HGNC	E5KQF6_HUMAN,Q3MSN4_HUMAN,D6RDA9_HUMAN	.	UPI000016A246	SNV	NR3C1,3_prime_UTR_variant,,ENST00000394464,;NR3C1,3_prime_UTR_variant,,ENST00000343796,;NR3C1,3_prime_UTR_variant,,ENST00000415690,;NR3C1,downstream_gene_variant,,ENST00000231509,;NR3C1,downstream_gene_variant,,ENST00000503201,;NR3C1,downstream_gene_variant,,ENST00000504572,;NR3C1,downstream_gene_variant,,ENST00000424646,;NR3C1,downstream_gene_variant,,ENST00000416954,;NR3C1,downstream_gene_variant,,ENST00000394466,;	.	62	64	SUCCESS
SLC26A4	5172	.	GRCh37	7	107356078	107356078	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	28	0	ENST00000265715.3:c.*187T>A			ENST00000265715	NM_000441.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5746.1	.	MUTECT|MUSE	.	ATGGCTAGAAT	NONE	.	.	.	.	.	ENSP00000265715	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000265715	Transcript	.	.	ENSG00000091137	8818	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S26A4_HUMAN	SLC26A4	HGNC	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN	.	UPI00001315A4	SNV	SLC26A4,3_prime_UTR_variant,,ENST00000265715,;SLC26A4,3_prime_UTR_variant,,ENST00000543100,;SLC26A4,3_prime_UTR_variant,,ENST00000541474,;SLC26A4,downstream_gene_variant,,ENST00000544569,;SLC26A4,downstream_gene_variant,,ENST00000492030,;	2754	28	21	SUCCESS
ZNF138	7697	.	GRCh37	7	64292923	64292923	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	24	0				ENST00000440155	NM_006524.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34645.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTATTACA	NONE	.	303	.	.	.	ENSP00000407262	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000440155	Transcript	.	.	ENSG00000197008	12922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN138_HUMAN	ZNF138	HGNC	E7EWC5_HUMAN,A2RRP7_HUMAN	.	UPI000198CD4D	SNV	ZNF138,3_prime_UTR_variant,,ENST00000437743,;ZNF138,3_prime_UTR_variant,,ENST00000440598,;ZNF138,3_prime_UTR_variant,,ENST00000359735,;ZNF138,3_prime_UTR_variant,,ENST00000397136,;ZNF138,downstream_gene_variant,,ENST00000440155,;ZNF138,downstream_gene_variant,,ENST00000494380,;ZNF138,downstream_gene_variant,,ENST00000307355,;ZNF138,non_coding_transcript_exon_variant,,ENST00000430838,;RP11-797H7.1,downstream_gene_variant,,ENST00000427545,;	.	24	23	SUCCESS
PCDH11Y	83259	.	GRCh37	Y	4924912	4924912	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-DD-AACK-01	TCGA-DD-AACK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	108	147	0				ENST00000400457	NM_032973.2	16		0	.	.	.	.	.	A	S	protein_coding	YES	CCDS14777.1	48	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCTCCTCT	NONE	.	.	Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	.	.	ENSP00000355419	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000362095	Transcript	.	.	ENSG00000099715	15813	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PC11Y_HUMAN	PCDH11Y	HGNC	.	.	UPI000006EF4D	SNV	PCDH11Y,synonymous_variant,p.%3D,ENST00000215473,;PCDH11Y,synonymous_variant,p.%3D,ENST00000362095,;PCDH11Y,intron_variant,,ENST00000333703,;PCDH11Y,upstream_gene_variant,,ENST00000400457,;	782	147	156	SUCCESS
KIN	22944	.	GRCh37	10	7798036	7798042	+	3_prime_UTR_variant	3'UTR	DEL	TTCAAAC	TTCAAAC	-	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	TTCAAAC	TTCAAAC	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	38	0	ENST00000379562.4:c.*1_*7del			ENST00000379562	NM_012311.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7080.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAAATTTTCAAACTCAGG	NONE	.	.	.	.	.	ENSP00000368881	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000379562	Transcript	.	.	ENSG00000151657	6327	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KIN17_HUMAN	KIN	HGNC	.	.	UPI00000315C2	deletion	KIN,3_prime_UTR_variant,,ENST00000379562,;KIN,intron_variant,,ENST00000535925,;KIN,downstream_gene_variant,,ENST00000543003,;KIN,non_coding_transcript_exon_variant,,ENST00000463666,;KIN,non_coding_transcript_exon_variant,,ENST00000471320,;KIN,intron_variant,,ENST00000498098,;	1231-1237	38	46	SUCCESS
ARHGAP19	84986	.	GRCh37	10	98985807	98985807	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	47	0	ENST00000358531.4:c.*72A>T			ENST00000358531	NM_001204300.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7454.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGCTGTGGG	NONE	.	.	.	.	.	ENSP00000351333	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000358531	Transcript	.	.	ENSG00000213390	23724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG19_HUMAN	ARHGAP19	HGNC	Q8NA01_HUMAN	.	UPI000013EA3D	SNV	ARHGAP19,3_prime_UTR_variant,,ENST00000371027,;ARHGAP19,3_prime_UTR_variant,,ENST00000358531,;ARHGAP19-SLIT1,intron_variant,,ENST00000316676,;ARHGAP19-SLIT1,intron_variant,,ENST00000453547,;ARHGAP19,intron_variant,,ENST00000355366,;ARHGAP19-SLIT1,downstream_gene_variant,,ENST00000358308,;ARHGAP19,non_coding_transcript_exon_variant,,ENST00000487035,;ARHGAP19,3_prime_UTR_variant,,ENST00000492211,;ARHGAP19-SLIT1,intron_variant,,ENST00000479633,;	1586	47	42	SUCCESS
MAP3K11	4296	.	GRCh37	11	65365686	65365686	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs752756299	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	23	0	ENST00000309100.3:c.*76A>T			ENST00000309100	NM_002419.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8107.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCTGACCC	NONE	.	.	.	.	.	ENSP00000309597	.	10/10	.	.	.	.	.	.	.	.	rs752756299	10/10	PASS	ENST00000309100	Transcript	.	.	ENSG00000173327	6850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K11_HUMAN	MAP3K11	HGNC	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN	.	UPI0000049BF7	SNV	MAP3K11,3_prime_UTR_variant,,ENST00000532507,;MAP3K11,3_prime_UTR_variant,,ENST00000309100,;MAP3K11,3_prime_UTR_variant,,ENST00000530153,;KCNK7,upstream_gene_variant,,ENST00000530380,;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000340313,;KCNK7,upstream_gene_variant,,ENST00000525254,;KCNK7,upstream_gene_variant,,ENST00000394216,;KCNK7,upstream_gene_variant,,ENST00000394217,;MAP3K11,downstream_gene_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,;	3106	23	25	SUCCESS
MTL5	0	.	GRCh37	11	68475551	68475551	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000255087.5:c.*225A>T			ENST00000255087	NM_004923.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8184.1	.	MUTECT|MUSE	.	CAAGCTCTCTC	NONE	.	.	.	.	.	ENSP00000255087	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000255087	Transcript	.	.	ENSG00000132749	7446	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTL5_HUMAN	MTL5	HGNC	.	.	UPI00001FAE07	SNV	MTL5,3_prime_UTR_variant,,ENST00000255087,;MTL5,intron_variant,,ENST00000543240,;MTL5,intron_variant,,ENST00000544398,;	1936	8	11	SUCCESS
DDX47	51202	.	GRCh37	12	12982605	12982605	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	31	0	ENST00000358007.3:c.*117A>T			ENST00000358007	NM_016355.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8655.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTCAGCTAA	NONE	.	.	.	.	.	ENSP00000350698	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000358007	Transcript	.	.	ENSG00000213782	18682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX47_HUMAN	DDX47	HGNC	Q7Z4B1_HUMAN,A4UCU0_HUMAN	.	UPI0000037B84	SNV	DDX47,3_prime_UTR_variant,,ENST00000352940,;DDX47,3_prime_UTR_variant,,ENST00000358007,;APOLD1,3_prime_UTR_variant,,ENST00000534843,;DDX47,non_coding_transcript_exon_variant,,ENST00000545038,;DDX47,non_coding_transcript_exon_variant,,ENST00000542123,;DDX47,downstream_gene_variant,,ENST00000535722,;DDX47,downstream_gene_variant,,ENST00000541537,;	1507	31	40	SUCCESS
RPAP3	79657	.	GRCh37	12	48057154	48057154	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	7	17	0	ENST00000005386.3:c.*134A>T			ENST00000005386	NM_024604.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8753.1	.	MUTECT|MUSE	.	CACCTTATAGT	NONE	.	.	.	.	.	ENSP00000005386	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000005386	Transcript	.	.	ENSG00000005175	26151	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPAP3_HUMAN	RPAP3	HGNC	.	.	UPI0000035DAB	SNV	RPAP3,3_prime_UTR_variant,,ENST00000432584,;RPAP3,3_prime_UTR_variant,,ENST00000005386,;RPAP3,3_prime_UTR_variant,,ENST00000380650,;RPAP3,non_coding_transcript_exon_variant,,ENST00000548211,;	2248	17	28	SUCCESS
GAS6	2621	.	GRCh37	13	114523825	114523825	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	63	0	ENST00000327773.6:c.*12A>T			ENST00000327773	NM_000820.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45072.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCGTCCCGT	NONE	.	.	.	.	.	ENSP00000331831	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000327773	Transcript	.	.	ENSG00000183087	4168	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GAS6_HUMAN	GAS6	HGNC	B4DZY7_HUMAN	.	UPI0000073CCA	SNV	GAS6,3_prime_UTR_variant,,ENST00000355761,;GAS6,3_prime_UTR_variant,,ENST00000327773,;GAS6,3_prime_UTR_variant,,ENST00000357389,;GAS6,3_prime_UTR_variant,,ENST00000450766,;GAS6,3_prime_UTR_variant,,ENST00000418959,;GAS6-AS1,intron_variant,,ENST00000458001,;GAS6,non_coding_transcript_exon_variant,,ENST00000610073,;GAS6,non_coding_transcript_exon_variant,,ENST00000608763,;GAS6,non_coding_transcript_exon_variant,,ENST00000480426,;	2196	63	54	SUCCESS
TXNDC16	57544	.	GRCh37	14	52898893	52898893	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	18	0	ENST00000281741.4:c.*129A>T			ENST00000281741	NM_020784.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32083.1	.	MUTECT|MUSE	.	AAATATGTGAC	NONE	.	.	.	.	.	ENSP00000281741	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000281741	Transcript	.	.	ENSG00000087301	19965	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TXD16_HUMAN	TXNDC16	HGNC	G3V2S5_HUMAN,B7ZME4_HUMAN	.	UPI000059D245	SNV	TXNDC16,3_prime_UTR_variant,,ENST00000281741,;	2979	18	20	SUCCESS
PSMA4	5685	.	GRCh37	15	78841514	78841514	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	8	0	ENST00000044462.7:c.*228A>T			ENST00000044462	NM_002789.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10303.1	.	MUTECT|MUSE	.	TTGGAATAAAA	NONE	.	.	.	.	.	ENSP00000044462	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000044462	Transcript	.	.	ENSG00000041357	9533	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSA4_HUMAN	PSMA4	HGNC	Q7Z474_HUMAN,H0YMZ1_HUMAN,H0YMA1_HUMAN,H0YL69_HUMAN,H0YKT8_HUMAN	.	UPI000000DC2A	SNV	PSMA4,3_prime_UTR_variant,,ENST00000044462,;PSMA4,3_prime_UTR_variant,,ENST00000558341,;PSMA4,3_prime_UTR_variant,,ENST00000413382,;PSMA4,3_prime_UTR_variant,,ENST00000559082,;PSMA4,downstream_gene_variant,,ENST00000560737,;PSMA4,downstream_gene_variant,,ENST00000559948,;PSMA4,downstream_gene_variant,,ENST00000558094,;PSMA4,downstream_gene_variant,,ENST00000559365,;PSMA4,downstream_gene_variant,,ENST00000559146,;PSMA4,downstream_gene_variant,,ENST00000559154,;PSMA4,downstream_gene_variant,,ENST00000558281,;PSMA4,downstream_gene_variant,,ENST00000559437,;PSMA4,downstream_gene_variant,,ENST00000560217,;PSMA4,downstream_gene_variant,,ENST00000557929,;PSMA4,downstream_gene_variant,,ENST00000559906,;PSMA4,non_coding_transcript_exon_variant,,ENST00000560099,;PSMA4,downstream_gene_variant,,ENST00000559934,;PSMA4,downstream_gene_variant,,ENST00000558639,;	1164	8	16	SUCCESS
TP53TG3D	729264	.	GRCh37	16	32266314	32266314	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	37	210	0	ENST00000380148.2:c.*523A>T			ENST00000380148				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58456.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGACATCTCT	NONE	.	.	.	.	.	ENSP00000455596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000398664	Transcript	.	.	ENSG00000205456	44657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	T53G3_HUMAN	TP53TG3D	HGNC	.	.	UPI000006D8DD	SNV	TP53TG3D,3_prime_UTR_variant,,ENST00000398664,;TP53TG3D,3_prime_UTR_variant,,ENST00000569631,;TP53TG3D,downstream_gene_variant,,ENST00000354614,;RP11-56L13.7,upstream_gene_variant,,ENST00000562604,;TP53TG3D,non_coding_transcript_exon_variant,,ENST00000564810,;TP53TG3D,3_prime_UTR_variant,,ENST00000380148,;TP53TG3D,3_prime_UTR_variant,,ENST00000568044,;TP53TG3D,non_coding_transcript_exon_variant,,ENST00000567978,;TP53TG3D,downstream_gene_variant,,ENST00000563025,;	1100	210	151	SUCCESS
PDP2	57546	.	GRCh37	16	66920842	66920842	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	39	130	0	ENST00000311765.2:c.*1065A>T			ENST00000311765	NM_020786.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10822.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTTAGACAG	NONE	.	.	.	.	.	ENSP00000309548	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311765	Transcript	.	.	ENSG00000172840	30263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDP2_HUMAN	PDP2	HGNC	H3BV50_HUMAN,H3BTU5_HUMAN,H3BSA5_HUMAN,H3BRB7_HUMAN,H3BQX2_HUMAN	.	UPI0000044254	SNV	PDP2,3_prime_UTR_variant,,ENST00000311765,;PDP2,downstream_gene_variant,,ENST00000568398,;PDP2,downstream_gene_variant,,ENST00000566543,;PDP2,downstream_gene_variant,,ENST00000561704,;PDP2,downstream_gene_variant,,ENST00000566776,;PDP2,downstream_gene_variant,,ENST00000568869,;RP11-61A14.3,upstream_gene_variant,,ENST00000561811,;RP11-61A14.3,upstream_gene_variant,,ENST00000563086,;RP11-61A14.2,upstream_gene_variant,,ENST00000561475,;PDP2,intron_variant,,ENST00000568720,;PDP2,intron_variant,,ENST00000566805,;	2989	130	137	SUCCESS
CBLN2	147381	.	GRCh37	18	70205290	70205290	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	29	0	ENST00000269503.4:c.*121T>A			ENST00000269503	NM_182511.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11999.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTACTGCA	NONE	.	.	.	.	.	ENSP00000269503	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269503	Transcript	.	.	ENSG00000141668	1544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLN2_HUMAN	CBLN2	HGNC	.	.	UPI0000032E73	SNV	CBLN2,3_prime_UTR_variant,,ENST00000584764,;CBLN2,3_prime_UTR_variant,,ENST00000585159,;CBLN2,3_prime_UTR_variant,,ENST00000269503,;CBLN2,downstream_gene_variant,,ENST00000581073,;CBLN2,downstream_gene_variant,,ENST00000583651,;CBLN2,non_coding_transcript_exon_variant,,ENST00000581425,;	1570	29	51	SUCCESS
ZNF146	7705	.	GRCh37	19	36728513	36728513	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	214	60	209	0	ENST00000443387.2:c.*292A>T			ENST00000443387	NM_007145.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12492.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATAGATCT	NONE	.	.	.	.	.	ENSP00000400391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000456324	Transcript	.	.	ENSG00000167635	12931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OZF_HUMAN	ZNF146	HGNC	.	.	UPI000013E6EC	SNV	ZNF146,3_prime_UTR_variant,,ENST00000443387,;ZNF146,3_prime_UTR_variant,,ENST00000456324,;ZNF565,intron_variant,,ENST00000355114,;ZNF146,downstream_gene_variant,,ENST00000586094,;ZNF146,downstream_gene_variant,,ENST00000591063,;ZNF146,downstream_gene_variant,,ENST00000587285,;	2620	209	275	SUCCESS
PRDM2	7799	.	GRCh37	1	14149768	14149768	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs942559850	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	29	108	0	ENST00000235372.7:c.*138G>A			ENST00000235372	NM_012231.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS150.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGCGCGTGC	NONE	.	.	.	.	.	ENSP00000235372	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,3_prime_UTR_variant,,ENST00000505823,;PRDM2,3_prime_UTR_variant,,ENST00000235372,;PRDM2,3_prime_UTR_variant,,ENST00000376048,;PRDM2,3_prime_UTR_variant,,ENST00000503842,;	6151	108	133	SUCCESS
MPZL1	9019	.	GRCh37	1	167757387	167757387	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	30	0	ENST00000359523.2:c.*229A>T			ENST00000359523	NM_024569.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1264.1	.	MUTECT|MUSE	.	TCTACATATGT	NONE	.	.	.	.	.	ENSP00000352513	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000359523	Transcript	.	.	ENSG00000197965	7226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MPZL1_HUMAN	MPZL1	HGNC	A8K5D4_HUMAN	.	UPI000004BA6A	SNV	MPZL1,3_prime_UTR_variant,,ENST00000359523,;MPZL1,3_prime_UTR_variant,,ENST00000367853,;MPZL1,3_prime_UTR_variant,,ENST00000392121,;MPZL1,downstream_gene_variant,,ENST00000474859,;MPZL1,non_coding_transcript_exon_variant,,ENST00000403379,;MPZL1,non_coding_transcript_exon_variant,,ENST00000498279,;MPZL1,3_prime_UTR_variant,,ENST00000448405,;MPZL1,downstream_gene_variant,,ENST00000474729,;	1241	30	33	SUCCESS
TMEM200B	399474	.	GRCh37	1	29447259	29447260	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	53	10	27	0	ENST00000420504.2:c.*157dup			ENST00000420504	NM_001171868.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30658.1	.	INDELOCATOR*|PINDEL	.	CCCGCATGCAG	NONE	.	.	.	.	.	ENSP00000428544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000420504	Transcript	.	.	ENSG00000253304	33785	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T200B_HUMAN	TMEM200B	HGNC	.	.	UPI0000160B5B	insertion	TMEM200B,3_prime_UTR_variant,,ENST00000420504,;TMEM200B,3_prime_UTR_variant,,ENST00000521452,;EPB41,downstream_gene_variant,,ENST00000356093,;EPB41,downstream_gene_variant,,ENST00000373798,;EPB41,downstream_gene_variant,,ENST00000347529,;EPB41,downstream_gene_variant,,ENST00000373800,;EPB41,downstream_gene_variant,,ENST00000398863,;EPB41,downstream_gene_variant,,ENST00000349460,;EPB41,downstream_gene_variant,,ENST00000343067,;EPB41,downstream_gene_variant,,ENST00000460378,;	1239-1240	27	63	SUCCESS
BBS5	129880	.	GRCh37	2	170361124	170361124	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs747114614	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	21	50	0	ENST00000295240.3:c.*32A>T			ENST00000295240	NM_152384.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2233.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAAAGATAT	NONE	.	.	.	.	.	ENSP00000295240	.	12/12	.	.	.	.	.	.	.	.	rs747114614	12/12	PASS	ENST00000295240	Transcript	.	.	ENSG00000163093	970	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBS5_HUMAN	BBS5	HGNC	.	.	UPI000000DA9B	SNV	BBS5,3_prime_UTR_variant,,ENST00000295240,;BBS5,3_prime_UTR_variant,,ENST00000392663,;BBS5,intron_variant,,ENST00000554017,;RP11-724O16.1,intron_variant,,ENST00000513963,;BBS5,non_coding_transcript_exon_variant,,ENST00000472667,;	1434	50	92	SUCCESS
ABI2	10152	.	GRCh37	2	204309510	204309510	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1309772237	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	35	0	ENST00000295851.5:c.*17435G>A			ENST00000295851	NM_001282925.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2359.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCGATAAA	NONE	.	.	.	.	.	ENSP00000316543	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,3_prime_UTR_variant,,ENST00000453034,;ABI2,3_prime_UTR_variant,,ENST00000295851,;RAPH1,intron_variant,,ENST00000423104,;RAPH1,intron_variant,,ENST00000419464,;RAPH1,intron_variant,,ENST00000374488,;RAPH1,intron_variant,,ENST00000439222,;RAPH1,intron_variant,,ENST00000374493,;RAPH1,intron_variant,,ENST00000374489,;RAPH1,intron_variant,,ENST00000457812,;RAPH1,intron_variant,,ENST00000308091,;RAPH1,intron_variant,,ENST00000319170,;RAPH1,downstream_gene_variant,,ENST00000418114,;	.	35	46	SUCCESS
KCNE4	23704	.	GRCh37	2	223918077	223918077	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	22	88	0	ENST00000281830.3:c.*16T>A			ENST00000281830	NM_080671.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCTGCCGG	NONE	.	.	.	.	.	ENSP00000473755	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000604125	Transcript	.	.	ENSG00000152049	6244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNE4_HUMAN	KCNE4	HGNC	Q2N1I0_HUMAN,A5H1P5_HUMAN	.	UPI000013DCA0	SNV	KCNE4,3_prime_UTR_variant,,ENST00000604125,;KCNE4,3_prime_UTR_variant,,ENST00000281830,;KCNE4,intron_variant,,ENST00000488477,;	683	88	111	SUCCESS
MGAT4A	11320	.	GRCh37	2	99241978	99241978	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs150103313	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	163	42	142	0	ENST00000264968.3:c.*51A>T			ENST00000264968				0	C:0.0005	C:0.0023	.	C:0	.	A	.	protein_coding	YES	CCDS2036.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACTATCTT	NONE	byFrequency|byCluster|by1000G	.	.	C:0	C:0	ENSP00000264968	C:0	15/15	.	.	.	.	.	.	.	.	rs150103313	15/15	PASS	ENST00000264968	Transcript	.	C:0.0006	ENSG00000071073	7047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	MGT4A_HUMAN	MGAT4A	HGNC	.	.	UPI000003F051	SNV	MGAT4A,3_prime_UTR_variant,,ENST00000393487,;MGAT4A,3_prime_UTR_variant,,ENST00000409391,;MGAT4A,3_prime_UTR_variant,,ENST00000264968,;MGAT4A,intron_variant,,ENST00000414521,;	2023	142	206	SUCCESS
CD47	961	.	GRCh37	3	107766083	107766083	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	64	0	ENST00000361309.5:c.*52A>G			ENST00000361309	NM_001777.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTATTCCTT	NONE	.	.	.	.	.	ENSP00000355361	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000361309	Transcript	.	.	ENSG00000196776	1682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD47_HUMAN	CD47	HGNC	.	.	UPI0000049C6C	SNV	CD47,3_prime_UTR_variant,,ENST00000398258,;CD47,3_prime_UTR_variant,,ENST00000517766,;CD47,3_prime_UTR_variant,,ENST00000361309,;CD47,3_prime_UTR_variant,,ENST00000355354,;CD47,non_coding_transcript_exon_variant,,ENST00000471694,;	1130	64	97	SUCCESS
HRH1	3269	.	GRCh37	3	11302831	11302831	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	106	41	106	0	ENST00000397056.1:c.*644T>A			ENST00000397056	NM_000861.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTTACTC	NONE	.	.	.	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,3_prime_UTR_variant,,ENST00000431010,;HRH1,3_prime_UTR_variant,,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;HRH1,downstream_gene_variant,,ENST00000438284,;	2299	106	147	SUCCESS
HRH1	3269	.	GRCh37	3	11304359	11304359	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	9	58	0	ENST00000397056.1:c.*2172T>C			ENST00000397056	NM_000861.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGTGTCCATT	NONE	.	.	.	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,3_prime_UTR_variant,,ENST00000431010,;HRH1,3_prime_UTR_variant,,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;HRH1,downstream_gene_variant,,ENST00000438284,;	3827	58	62	SUCCESS
ROPN1L	83853	.	GRCh37	5	10465079	10465079	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	236	57	287	0	ENST00000274134.4:c.*20T>A			ENST00000274134	NM_031916.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3879.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTAATGT	NONE	.	.	.	.	.	ENSP00000421405	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000503804	Transcript	.	.	ENSG00000145491	24060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ROP1L_HUMAN	ROPN1L	HGNC	.	.	UPI000013D9F3	SNV	ROPN1L,3_prime_UTR_variant,,ENST00000274134,;ROPN1L,3_prime_UTR_variant,,ENST00000503804,;ROPN1L,intron_variant,,ENST00000510520,;ROPN1L,downstream_gene_variant,,ENST00000515762,;ROPN1L,downstream_gene_variant,,ENST00000512022,;	1234	287	294	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159776057	159776057	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	23	0	ENST00000393975.3:c.*118T>C			ENST00000393975	NM_031908.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4351.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGAGCCTG	NONE	.	.	.	.	.	ENSP00000377545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,3_prime_UTR_variant,,ENST00000393975,;CCNJL,upstream_gene_variant,,ENST00000521643,;	1115	23	22	SUCCESS
GJA1	2697	.	GRCh37	6	121770250	121770250	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1341618193	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	15	70	0	ENST00000282561.3:c.*1108T>C			ENST00000282561	NM_000165.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5123.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGATATAGC	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;RNU4-35P,downstream_gene_variant,,ENST00000362588,;	2414	70	86	SUCCESS
HIST1H1A	0	.	GRCh37	6	26022065	26022108	+	upstream_gene_variant	5'Flank	DEL	GGAGACTCGCGGGGTGCTCAAGGTGTTTTTGGAGAACGTGATCC	GGAGACTCGCGGGGTGCTCAAGGTGTTTTTGGAGAACGTGATCC	-	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	GGAGACTCGCGGGGTGCTCAAGGTGTTTTTGGAGAACGTGATCC	GGAGACTCGCGGGGTGCTCAAGGTGTTTTTGGAGAACGTGATCC	.	.	.	.	.	.	.	.	.	.	.	.	.	121	11	108	0				ENST00000244573	NM_005325.3	53		0	.	.	.	.	.	-	EETRGVLKVFLENVIR/EX	protein_coding	YES	CCDS4571.1	159-202	INDELOCATOR*|PINDEL	.	CTACGAGGAGACTCGCGGGGTGCTCAAGGTGTTTTTGGAGAACGTGATCCGTGAC	NONE	.	.	hmmpanther:PTHR10484,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00803,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623,Prints_domain:PR00623	.	.	ENSP00000352980	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359907	Transcript	.	.	ENSG00000196176	4781	1	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H4_HUMAN	HIST1H4A	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	deletion	HIST1H4A,frameshift_variant,p.Glu54Ter,ENST00000359907,;HIST1H1A,upstream_gene_variant,,ENST00000244573,;HIST1H3A,downstream_gene_variant,,ENST00000357647,;	159-202	108	132	SUCCESS
SLC35B3	51000	.	GRCh37	6	8413742	8413742	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	25	0	ENST00000379660.4:c.*40A>T			ENST00000379660	NM_015948.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4508.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATTGTTCC	NONE	.	.	.	.	.	ENSP00000368981	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000379660	Transcript	.	.	ENSG00000124786	21601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35B3_HUMAN	SLC35B3	HGNC	.	.	UPI0000071D1B	SNV	SLC35B3,3_prime_UTR_variant,,ENST00000379660,;	1696	25	30	SUCCESS
MTMR9	66036	.	GRCh37	8	11180466	11180466	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1423421089	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	18	0	ENST00000221086.3:c.*169A>G			ENST00000221086	NM_015458.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5979.1	.	MUTECT|MUSE	.	TTACTATCATA	NONE	.	.	.	.	.	ENSP00000221086	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000221086	Transcript	.	.	ENSG00000104643	14596	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTMR9_HUMAN	MTMR9	HGNC	Q9Y4N6_HUMAN,B7Z291_HUMAN	.	UPI0000073CA7	SNV	MTMR9,3_prime_UTR_variant,,ENST00000526292,;MTMR9,3_prime_UTR_variant,,ENST00000221086,;AF131216.6,intron_variant,,ENST00000498997,;MTMR9,3_prime_UTR_variant,,ENST00000530200,;	2292	18	23	SUCCESS
OC90	729330	.	GRCh37	8	133036708	133036708	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	36	0	ENST00000254627.3:c.*20A>G			ENST00000254627	NM_001080399.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47919.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGTTAGCCA	NONE	.	.	.	.	.	ENSP00000473802	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000603859	Transcript	.	.	ENSG00000258417	8100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	OC90	Uniprot_gn	.	.	UPI000192B908	SNV	OC90,3_prime_UTR_variant,,ENST00000262283,;OC90,3_prime_UTR_variant,,ENST00000603859,;OC90,3_prime_UTR_variant,,ENST00000254627,;OC90,3_prime_UTR_variant,,ENST00000443356,;	1541	36	46	SUCCESS
CNOT7	29883	.	GRCh37	8	17088185	17088185	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1563184891	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	27	122	0	ENST00000361272.4:c.*44T>A			ENST00000361272	NM_013354.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6000.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAAGCATG	NONE	.	.	.	.	.	ENSP00000355279	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361272	Transcript	.	.	ENSG00000198791	14101	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNOT7_HUMAN	CNOT7	HGNC	E5RJE0_HUMAN,E5RGH2_HUMAN	.	UPI000013C4DB	SNV	CNOT7,3_prime_UTR_variant,,ENST00000518541,;CNOT7,3_prime_UTR_variant,,ENST00000361272,;CNOT7,downstream_gene_variant,,ENST00000523917,;CNOT7,downstream_gene_variant,,ENST00000519918,;CNOT7,downstream_gene_variant,,ENST00000522062,;CNOT7,downstream_gene_variant,,ENST00000519954,;	1201	122	146	SUCCESS
EFCAB1	79645	.	GRCh37	8	49637189	49637189	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	59	0	ENST00000262103.3:c.*112A>T			ENST00000262103	NM_024593.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6145.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATCTTCACCC	NONE	.	.	.	.	.	ENSP00000262103	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262103	Transcript	.	.	ENSG00000034239	25678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFCB1_HUMAN	EFCAB1	HGNC	.	.	UPI000006E520	SNV	EFCAB1,3_prime_UTR_variant,,ENST00000262103,;EFCAB1,3_prime_UTR_variant,,ENST00000522254,;EFCAB1,intron_variant,,ENST00000433756,;EFCAB1,intron_variant,,ENST00000523008,;EFCAB1,downstream_gene_variant,,ENST00000523092,;EFCAB1,intron_variant,,ENST00000521002,;EFCAB1,intron_variant,,ENST00000521701,;EFCAB1,downstream_gene_variant,,ENST00000519425,;	829	59	76	SUCCESS
CA13	377677	.	GRCh37	8	86193678	86193678	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	12	57	0	ENST00000321764.3:c.*100A>T			ENST00000321764	NM_198584.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6236.1	.	MUTECT|MUSE	.	ATTCTAATTTA	NONE	.	.	.	.	.	ENSP00000318912	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000321764	Transcript	.	.	ENSG00000185015	14914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAH13_HUMAN	CA13	HGNC	.	.	UPI000004BEFC	SNV	CA13,3_prime_UTR_variant,,ENST00000321764,;	1191	57	72	SUCCESS
S1PR3	1903	.	GRCh37	9	91619582	91619582	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	33	147	0	ENST00000358157.2:c.*2330T>A			ENST00000358157	NM_005226.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6680.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTATCAA	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	8162	147	175	SUCCESS
TRMT2B	79979	.	GRCh37	X	100265530	100265530	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	36	205	0	ENST00000372935.1:c.*40A>T			ENST00000372935	NM_001167970.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14477.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAACTTCAGCC	NONE	.	.	.	.	.	ENSP00000362027	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000372936	Transcript	.	.	ENSG00000188917	25748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRM2_HUMAN	TRMT2B	HGNC	.	.	UPI0000070468	SNV	TRMT2B,3_prime_UTR_variant,,ENST00000338687,;TRMT2B,3_prime_UTR_variant,,ENST00000545398,;TRMT2B,3_prime_UTR_variant,,ENST00000372935,;TRMT2B,3_prime_UTR_variant,,ENST00000372936,;TRMT2B,3_prime_UTR_variant,,ENST00000372939,;TRMT2B,downstream_gene_variant,,ENST00000372931,;	2328	205	213	SUCCESS
MORF4L2	9643	.	GRCh37	X	102930861	102930861	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	17	0	ENST00000360458.1:c.*228T>A			ENST00000360458	NM_001142421.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14512.1	.	MUTECT|MUSE	.	ACTGAATGTTT	NONE	.	.	.	.	.	ENSP00000416120	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000423833	Transcript	.	.	ENSG00000123562	16849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MO4L2_HUMAN	MORF4L2	HGNC	Q5JXX6_HUMAN,Q5JXX4_HUMAN,Q5JXX3_HUMAN,Q5JXX2_HUMAN,Q5JXX1_HUMAN,B4DXQ8_HUMAN,B3KWX6_HUMAN	.	UPI000012F567	SNV	MORF4L2,3_prime_UTR_variant,,ENST00000423833,;MORF4L2,3_prime_UTR_variant,,ENST00000441076,;MORF4L2,3_prime_UTR_variant,,ENST00000422154,;MORF4L2,3_prime_UTR_variant,,ENST00000433176,;MORF4L2,3_prime_UTR_variant,,ENST00000451301,;MORF4L2,3_prime_UTR_variant,,ENST00000360458,;MORF4L2,downstream_gene_variant,,ENST00000442614,;MORF4L2,downstream_gene_variant,,ENST00000418819,;MORF4L2,downstream_gene_variant,,ENST00000422355,;MORF4L2,downstream_gene_variant,,ENST00000434230,;MORF4L2,downstream_gene_variant,,ENST00000467755,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000498064,;	2321	17	19	SUCCESS
ZBTB33	10009	.	GRCh37	X	119390877	119390877	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	26	85	0	ENST00000326624.2:c.*1588T>A			ENST00000326624	NM_006777.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14596.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGGTTTCAG	NONE	.	.	.	.	.	ENSP00000314153	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326624	Transcript	.	.	ENSG00000177485	16682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAISO_HUMAN	ZBTB33	HGNC	.	.	UPI0000072F87	SNV	ZBTB33,3_prime_UTR_variant,,ENST00000326624,;TMEM255A,downstream_gene_variant,,ENST00000371369,;TMEM255A,downstream_gene_variant,,ENST00000440464,;TMEM255A,downstream_gene_variant,,ENST00000371352,;TMEM255A,downstream_gene_variant,,ENST00000309720,;ZBTB33,downstream_gene_variant,,ENST00000557385,;	3835	85	120	SUCCESS
ARHGEF9	23229	.	GRCh37	X	62855277	62855277	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	58	230	0	ENST00000253401.6:c.*2631T>A			ENST00000253401	NM_015185.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35315.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGAGGAAA	NONE	.	.	.	.	.	ENSP00000253401	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000253401	Transcript	.	.	ENSG00000131089	14561	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG9_HUMAN	ARHGEF9	HGNC	B1AMR3_HUMAN	.	UPI000006F940	SNV	ARHGEF9,synonymous_variant,p.%3D,ENST00000374878,;ARHGEF9,3_prime_UTR_variant,,ENST00000374870,;ARHGEF9,3_prime_UTR_variant,,ENST00000437457,;ARHGEF9,3_prime_UTR_variant,,ENST00000253401,;ARHGEF9,downstream_gene_variant,,ENST00000374872,;ARHGEF9,downstream_gene_variant,,ENST00000433323,;ARHGEF9,downstream_gene_variant,,ENST00000498761,;ARHGEF9,downstream_gene_variant,,ENST00000466925,;ARHGEF9,downstream_gene_variant,,ENST00000495564,;	4983	230	285	SUCCESS
EFNB1	1947	.	GRCh37	X	68060572	68060572	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	25	0	ENST00000204961.4:c.*75T>A			ENST00000204961	NM_004429.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14391.1	.	MUTECT|VARSCANS	.	CCCCCTCCCCT	NONE	.	.	.	.	.	ENSP00000204961	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000204961	Transcript	.	.	ENSG00000090776	3226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFNB1_HUMAN	EFNB1	HGNC	.	.	UPI000006222D	SNV	EFNB1,3_prime_UTR_variant,,ENST00000204961,;	1896	25	30	SUCCESS
DMRTC1	63947	.	GRCh37	X	72092154	72092154	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACL-01	TCGA-DD-AACL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	25	0	ENST00000373529.5:c.*132T>A			ENST00000373529	NM_033053.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35333.2	.	RADIA|VARSCANS	.	CATATAATAAA	NONE	.	.	.	.	.	ENSP00000362629	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373529	Transcript	.	.	ENSG00000159123	13910	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMRTC_HUMAN	DMRTC1	HGNC	A6QRF2_HUMAN	.	UPI00001D7BE5	SNV	DMRTC1,3_prime_UTR_variant,,ENST00000373529,;DMRTC1,3_prime_UTR_variant,,ENST00000373530,;DMRTC1,3_prime_UTR_variant,,ENST00000290273,;DMRTC1,3_prime_UTR_variant,,ENST00000483816,;	991	25	27	SUCCESS
ZFP91	80829	.	GRCh37	11	58345512	58345512	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	44	182	0				ENST00000316059	NM_001197051.1	3		0	.	.	.	.	.	A	T/I	protein_coding	YES	CCDS53635.1	8	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAATGTAGAC	NONE	.	.	PIRSF_domain:PIRSF037881	.	.	ENSP00000431284	.	1/9	.	.	.	.	.	.	.	.	.	1/9	PASS	ENST00000528954	Transcript	.	.	ENSG00000110031	14061	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0)	.	tolerated_low_confidence(0.1)	.	LPXN_HUMAN	LPXN	HGNC	.	.	UPI00001FA7B3	SNV	LPXN,missense_variant,p.Thr3Ile,ENST00000528954,;LPXN,5_prime_UTR_variant,,ENST00000528489,;ZFP91,upstream_gene_variant,,ENST00000316059,;LPXN,upstream_gene_variant,,ENST00000395074,;LPXN,upstream_gene_variant,,ENST00000530561,;ZFP91-CNTF,upstream_gene_variant,,ENST00000389919,;LPXN,upstream_gene_variant,,ENST00000529915,;	128	182	166	SUCCESS
CSH1	1442	.	GRCh37	17	61972338	61972338	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	20	46	0	ENST00000316193.8:c.*44G>T			ENST00000316193	NM_001317.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11649.1	.	MUTECT|MUSE	.	AGGGCCAGGAG	NONE	.	.	.	.	.	ENSP00000316416	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000316193	Transcript	.	.	ENSG00000136488	2440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSH_HUMAN	CSH1	HGNC	Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN	.	UPI0000000C48	SNV	CSH1,3_prime_UTR_variant,,ENST00000453363,;CSH1,3_prime_UTR_variant,,ENST00000329882,;CSH1,3_prime_UTR_variant,,ENST00000316193,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;	840	46	45	SUCCESS
F13A1	2162	.	GRCh37	6	6145824	6145824	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	20	86	0	ENST00000264870.3:c.*28G>A			ENST00000264870	NM_000129.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4496.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCCAGGG	NONE	.	.	.	.	.	ENSP00000264870	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000264870	Transcript	.	.	ENSG00000124491	3531	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F13A_HUMAN	F13A1	HGNC	Q9NQP5_HUMAN	.	UPI000013D585	SNV	F13A1,3_prime_UTR_variant,,ENST00000264870,;	2493	86	85	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910108	144910108	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-AACM-01	TCGA-DD-AACM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	28	200	0				ENST00000370490				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14681.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACGCCACCCC	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1181	201	158	SUCCESS
HCAR2	338442	.	GRCh37	12	123186597	123186597	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1447468099	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	45	0	ENST00000328880.5:c.*142C>T			ENST00000328880	NM_177551.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9235.1	.	MUTECT|MUSE	.	CCACCGTTTCC	NONE	.	.	.	.	.	ENSP00000375066	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328880	Transcript	.	.	ENSG00000182782	24827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HCAR2_HUMAN	HCAR2	HGNC	.	.	UPI000003BCD5	SNV	HCAR2,3_prime_UTR_variant,,ENST00000328880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;	1294	45	33	SUCCESS
ZNF664	144348	.	GRCh37	12	124498086	124498086	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	21	81	0	ENST00000337815.4:c.*609A>T			ENST00000337815				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9257.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCATTCAC	NONE	.	.	.	.	.	ENSP00000441405	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000539644	Transcript	.	.	ENSG00000179195	25406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN664_HUMAN	ZNF664	HGNC	.	.	UPI0000023E91	SNV	ZNF664,3_prime_UTR_variant,,ENST00000539644,;ZNF664,3_prime_UTR_variant,,ENST00000392404,;ZNF664,3_prime_UTR_variant,,ENST00000538932,;ZNF664,3_prime_UTR_variant,,ENST00000337815,;FAM101A,intron_variant,,ENST00000540762,;FAM101A,intron_variant,,ENST00000545615,;ZNF664,downstream_gene_variant,,ENST00000542493,;ZNF664,downstream_gene_variant,,ENST00000541448,;ZNF664,downstream_gene_variant,,ENST00000539501,;ZNF664,downstream_gene_variant,,ENST00000537532,;ZNF664,downstream_gene_variant,,ENST00000543017,;ZNF664,downstream_gene_variant,,ENST00000546098,;	3225	81	77	SUCCESS
FAIM2	23017	.	GRCh37	12	50264161	50264161	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	15	0	ENST00000320634.3:c.*126C>T			ENST00000320634	NM_012306.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8791.1	.	MUTECT|MUSE	.	GGGTAGACAGT	NONE	.	.	.	.	.	ENSP00000321951	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000320634	Transcript	.	.	ENSG00000135472	17067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LFG2_HUMAN	FAIM2	HGNC	F8VV65_HUMAN,B3KR08_HUMAN	.	UPI0000072B0C	SNV	FAIM2,3_prime_UTR_variant,,ENST00000320634,;FAIM2,downstream_gene_variant,,ENST00000550890,;FAIM2,downstream_gene_variant,,ENST00000552863,;FAIM2,downstream_gene_variant,,ENST00000552669,;RP11-70F11.7,downstream_gene_variant,,ENST00000547902,;FAIM2,downstream_gene_variant,,ENST00000550195,;	1172	15	20	SUCCESS
DYRK2	8445	.	GRCh37	12	68054609	68054609	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	70	0	ENST00000344096.3:c.*2116G>T			ENST00000344096	NM_006482.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAATGCTGTT	NONE	.	.	.	.	.	ENSP00000342105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000344096	Transcript	.	.	ENSG00000127334	3093	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYRK2_HUMAN	DYRK2	HGNC	G8JLB4_HUMAN,F5GXG1_HUMAN	.	UPI000006E92B	SNV	DYRK2,3_prime_UTR_variant,,ENST00000344096,;DYRK2,downstream_gene_variant,,ENST00000393555,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,intron_variant,,ENST00000425371,;	4335	70	71	SUCCESS
CTSE	1510	.	GRCh37	1	206331355	206331355	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs868934297	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	15	0	ENST00000358184.2:c.*170T>C			ENST00000358184	NM_001910.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1462.1	.	MUTECT|MUSE	.	ACATATACACA	NONE	.	.	.	.	.	ENSP00000350911	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000358184	Transcript	.	.	ENSG00000196188	2530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CATE_HUMAN	CTSE	HGNC	.	.	UPI000000D9E4	SNV	CTSE,3_prime_UTR_variant,,ENST00000361052,;CTSE,3_prime_UTR_variant,,ENST00000360218,;CTSE,3_prime_UTR_variant,,ENST00000432969,;CTSE,3_prime_UTR_variant,,ENST00000358184,;CTSE,downstream_gene_variant,,ENST00000486757,;CTSE,downstream_gene_variant,,ENST00000468617,;	1479	15	40	SUCCESS
REPIN1	29803	.	GRCh37	7	150070547	150070548	+	3_prime_UTR_variant	3'UTR	DEL	GC	GC	-	novel	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	GC	GC	.	.	.	.	.	.	.	.	.	.	.	.	.	64	29	109	0	ENST00000397281.2:c.*514_*515del			ENST00000397281	NM_013400.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS47745.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGAAGCGAAGC	NONE	.	513	.	.	.	ENSP00000417291	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000489432	Transcript	.	.	ENSG00000214022	17922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	REPIN1	HGNC	E7EVL6_HUMAN,C9J3L7_HUMAN	.	UPI0001596898	deletion	REPIN1,3_prime_UTR_variant,,ENST00000425389,;REPIN1,3_prime_UTR_variant,,ENST00000397281,;REPIN1,3_prime_UTR_variant,,ENST00000444957,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000489432,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000540729,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000473391,;	.	109	93	SUCCESS
SDK1	221935	.	GRCh37	7	4308165	4308165	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs530619633	.	TCGA-DD-AACN-01	TCGA-DD-AACN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	18	0	ENST00000404826.2:c.*3149G>A			ENST00000404826	NM_152744.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34590.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAACGCGCCT	NONE	byCluster	.	.	.	.	ENSP00000385899	.	45/45	.	.	.	.	.	.	.	.	rs530619633	45/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,3_prime_UTR_variant,,ENST00000404826,;SDK1,downstream_gene_variant,,ENST00000389531,;SDK1,downstream_gene_variant,,ENST00000466611,;SDK1,intron_variant,,ENST00000476701,;	9930	18	20	SUCCESS
FEM1B	10116	.	GRCh37	15	68583790	68583790	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	16	0	ENST00000306917.4:c.*210C>G			ENST00000306917	NM_015322.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10228.1	.	MUTECT|MUSE	.	TGTAACTATAA	NONE	.	.	.	.	.	ENSP00000307298	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306917	Transcript	.	.	ENSG00000169018	3649	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FEM1B_HUMAN	FEM1B	HGNC	H3BTV3_HUMAN	.	UPI00000011FB	SNV	FEM1B,3_prime_UTR_variant,,ENST00000306917,;FEM1B,downstream_gene_variant,,ENST00000570067,;FEM1B,downstream_gene_variant,,ENST00000566008,;FEM1B,downstream_gene_variant,,ENST00000566739,;	2709	16	8	SUCCESS
PLEKHM2	23207	.	GRCh37	1	16060475	16060475	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1157469002	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	49	0	ENST00000375799.3:c.*46C>T			ENST00000375799	NM_015164.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44063.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACGCCAGCC	NONE	.	.	.	.	.	ENSP00000364956	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000375799	Transcript	.	.	ENSG00000116786	29131	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHM2_HUMAN	PLEKHM2	HGNC	.	.	UPI00001C1D9C	SNV	PLEKHM2,3_prime_UTR_variant,,ENST00000375793,;PLEKHM2,3_prime_UTR_variant,,ENST00000375799,;SLC25A34,upstream_gene_variant,,ENST00000294454,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,non_coding_transcript_exon_variant,,ENST00000477849,;SLC25A34,upstream_gene_variant,,ENST00000489568,;	3333	49	22	SUCCESS
RGS4	5999	.	GRCh37	1	163038666	163038666	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	33	51	0				ENST00000367909	NM_005613.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44270.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGCGTGGAG	NONE	.	.	.	.	.	ENSP00000397181	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000421743	Transcript	.	.	ENSG00000117152	10000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGS4_HUMAN	RGS4	HGNC	E9PS05_HUMAN	.	UPI0000E1EDBA	SNV	RGS4,5_prime_UTR_variant,,ENST00000421743,;RGS4,upstream_gene_variant,,ENST00000367908,;RGS4,upstream_gene_variant,,ENST00000367909,;RGS4,upstream_gene_variant,,ENST00000528938,;RGS4,upstream_gene_variant,,ENST00000531057,;RGS4,upstream_gene_variant,,ENST00000367906,;RGS4,upstream_gene_variant,,ENST00000527809,;RGS4,upstream_gene_variant,,ENST00000491263,;RGS4,upstream_gene_variant,,ENST00000533019,;RGS4,upstream_gene_variant,,ENST00000527393,;	102	51	56	SUCCESS
PTGER3	5733	.	GRCh37	1	71318273	71318273	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs147847047	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	23	34	0	ENST00000351052.5:c.*293G>T			ENST00000351052				0	.	T:0.0015	.	T:0	.	A	.	protein_coding	.	CCDS652.1	.	RADIA|MUTECT|MUSE	.	GTATACGCAAA	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000418073	T:0	4/4	.	.	.	.	.	.	.	.	rs147847047	4/4	PASS	ENST00000460330	Transcript	.	T:0.0006	ENSG00000050628	9595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0.001	.	.	PE2R3_HUMAN	PTGER3	HGNC	.	.	UPI0000001277	SNV	PTGER3,3_prime_UTR_variant,,ENST00000460330,;PTGER3,3_prime_UTR_variant,,ENST00000370932,;PTGER3,3_prime_UTR_variant,,ENST00000370931,;PTGER3,3_prime_UTR_variant,,ENST00000351052,;PTGER3,3_prime_UTR_variant,,ENST00000479353,;PTGER3,3_prime_UTR_variant,,ENST00000361210,;PTGER3,3_prime_UTR_variant,,ENST00000497146,;	1430	34	35	SUCCESS
EPB41L5	57669	.	GRCh37	2	120932617	120932617	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	21	0	ENST00000263713.5:c.*134G>T			ENST00000263713	NM_020909.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCGTAAAA	NONE	.	.	.	.	.	ENSP00000263713	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000263713	Transcript	.	.	ENSG00000115109	19819	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E41L5_HUMAN	EPB41L5	HGNC	Q53RT1_HUMAN,Q4ZG32_HUMAN	.	UPI00001B078A	SNV	EPB41L5,3_prime_UTR_variant,,ENST00000443902,;EPB41L5,3_prime_UTR_variant,,ENST00000263713,;EPB41L5,3_prime_UTR_variant,,ENST00000452780,;AC012363.4,non_coding_transcript_exon_variant,,ENST00000455707,;	2550	21	18	SUCCESS
TSSK1B	83942	.	GRCh37	5	112769423	112769423	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs372559809	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	8	70	0	ENST00000390666.3:c.*10G>A			ENST00000390666	NM_032028.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS4112.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCCGCAAG	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000375081	.	1/1	.	.	.	.	.	.	.	.	rs372559809	1/1	PASS	ENST00000390666	Transcript	.	.	ENSG00000212122	14968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TSSK1_HUMAN	TSSK1B	HGNC	A0ZT98_HUMAN	.	UPI000003C96E	SNV	TSSK1B,3_prime_UTR_variant,,ENST00000390666,;MCC,intron_variant,,ENST00000408903,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000383058,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	1306	71	61	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532804	140532805	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs1427285469	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	90	37	104	0	ENST00000231136.1:c.*588dup			ENST00000231136	NM_018939.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4248.1	.	INDELOCATOR|VARSCANI	.	ATGGTCTTTTT	NONE	.	.	.	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	insertion	PCDHB6,3_prime_UTR_variant,,ENST00000231136,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2966-2967	104	127	SUCCESS
ESYT2	57488	.	GRCh37	7	158526782	158526782	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	14	0	ENST00000251527.5:c.*116C>T			ENST00000251527	NM_020728.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34791.1	.	MUTECT|MUSE	.	TTAAGGTATGT	NONE	.	.	.	.	.	ENSP00000251527	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000251527	Transcript	.	.	ENSG00000117868	22211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ESYT2_HUMAN	ESYT2	HGNC	.	.	UPI00002339BD	SNV	ESYT2,3_prime_UTR_variant,,ENST00000435514,;ESYT2,3_prime_UTR_variant,,ENST00000251527,;ESYT2,3_prime_UTR_variant,,ENST00000275418,;	2864	14	8	SUCCESS
ZBTB43	23099	.	GRCh37	9	129597910	129597910	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	48	98	0	ENST00000373457.1:c.*1718G>A			ENST00000373457				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAAGCAAGA	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	3386	98	89	SUCCESS
EIF1AY	9086	.	GRCh37	Y	22754349	22754349	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACO-01	TCGA-DD-AACO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	38	47	0	ENST00000361365.2:c.*117T>C			ENST00000361365	NM_004681.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14795.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGATTT	NONE	.	.	.	.	.	ENSP00000354722	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361365	Transcript	.	.	ENSG00000198692	3252	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF1AY_HUMAN	EIF1AY	HGNC	.	.	UPI0000169E55	SNV	EIF1AY,3_prime_UTR_variant,,ENST00000382772,;EIF1AY,3_prime_UTR_variant,,ENST00000361365,;EIF1AY,non_coding_transcript_exon_variant,,ENST00000485584,;EIF1AY,non_coding_transcript_exon_variant,,ENST00000464196,;EIF1AY,downstream_gene_variant,,ENST00000465253,;	699	47	42	SUCCESS
DDI1	414301	.	GRCh37	11	103909565	103909565	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	64	119	0	ENST00000302259.3:c.*824T>C			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGTTCTCTA	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	2258	119	83	SUCCESS
ODF3	113746	.	GRCh37	11	200195	200195	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	14	0	ENST00000325113.4:c.*162T>C			ENST00000325113	NM_053280.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7688.1	.	MUTECT|MUSE	.	TGCTATTTTAC	NONE	.	.	.	.	.	ENSP00000325868	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000325113	Transcript	.	.	ENSG00000177947	19905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ODF3A_HUMAN	ODF3	HGNC	.	.	UPI0000072C66	SNV	ODF3,3_prime_UTR_variant,,ENST00000325113,;BET1L,intron_variant,,ENST00000410108,;BET1L,downstream_gene_variant,,ENST00000529614,;BET1L,downstream_gene_variant,,ENST00000382762,;BET1L,downstream_gene_variant,,ENST00000486280,;ODF3,downstream_gene_variant,,ENST00000525282,;BET1L,downstream_gene_variant,,ENST00000332865,;ODF3,downstream_gene_variant,,ENST00000342593,;BET1L,downstream_gene_variant,,ENST00000325147,;RP11-304M2.5,upstream_gene_variant,,ENST00000526963,;ODF3,non_coding_transcript_exon_variant,,ENST00000531679,;AC069287.1,downstream_gene_variant,,ENST00000433234,;	1244	14	9	SUCCESS
SVIP	258010	.	GRCh37	11	22844625	22844625	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs771751992	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	35	0	ENST00000354193.4:c.*40T>G			ENST00000354193	NM_148893.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41627.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATAAACAGT	NONE	.	.	.	.	.	ENSP00000346130	.	4/4	.	.	.	.	.	.	.	.	rs771751992	4/4	PASS	ENST00000354193	Transcript	.	.	ENSG00000198168	25238	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SVIP_HUMAN	SVIP	HGNC	.	.	UPI000006DD71	SNV	SVIP,3_prime_UTR_variant,,ENST00000354193,;SVIP,non_coding_transcript_exon_variant,,ENST00000530199,;SVIP,non_coding_transcript_exon_variant,,ENST00000533774,;SVIP,intron_variant,,ENST00000525670,;SVIP,downstream_gene_variant,,ENST00000529848,;	391	35	16	SUCCESS
B4GALNT1	2583	.	GRCh37	12	58020451	58020451	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	23	0	ENST00000341156.4:c.*76C>A			ENST00000341156	NM_001478.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8950.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTGGTGGGG	NONE	.	.	.	.	.	ENSP00000341562	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000341156	Transcript	.	.	ENSG00000135454	4117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B4GN1_HUMAN	B4GALNT1	HGNC	F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN	.	UPI0000126DD5	SNV	B4GALNT1,3_prime_UTR_variant,,ENST00000341156,;B4GALNT1,3_prime_UTR_variant,,ENST00000418555,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;SLC26A10,downstream_gene_variant,,ENST00000379218,;B4GALNT1,downstream_gene_variant,,ENST00000551220,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000550764,;SLC26A10,downstream_gene_variant,,ENST00000320442,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;SLC26A10,downstream_gene_variant,,ENST00000483647,;B4GALNT1,downstream_gene_variant,,ENST00000550943,;SLC26A10,downstream_gene_variant,,ENST00000490243,;B4GALNT1,3_prime_UTR_variant,,ENST00000552798,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000552468,;SLC26A10,downstream_gene_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000551925,;B4GALNT1,downstream_gene_variant,,ENST00000548487,;SLC26A10,downstream_gene_variant,,ENST00000497297,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;SLC26A10,downstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000440686,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;SLC26A10,downstream_gene_variant,,ENST00000474359,;	2263	23	24	SUCCESS
FREM2	341640	.	GRCh37	13	39454985	39454985	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	5	54	0	ENST00000280481.7:c.*61T>A			ENST00000280481	NM_207361.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31960.1	.	MUTECT|MUSE	.	GAACCTTAAAT	NONE	.	.	.	.	.	ENSP00000280481	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,3_prime_UTR_variant,,ENST00000280481,;	9787	54	45	SUCCESS
HNRNPC	3183	.	GRCh37	14	21679248	21679248	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	13	0				ENST00000420743				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41915.1	.	MUTECT|MUSE	.	CATGGGAAGGA	NONE	.	.	.	.	.	ENSP00000319690	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000320084	Transcript	.	.	ENSG00000092199	5035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HNRPC_HUMAN	HNRNPC	HGNC	G3V575_HUMAN,G3V555_HUMAN,G3V4M8_HUMAN,G3V2H6_HUMAN	.	UPI000013C6E4	SNV	HNRNPC,3_prime_UTR_variant,,ENST00000554969,;HNRNPC,3_prime_UTR_variant,,ENST00000555883,;HNRNPC,3_prime_UTR_variant,,ENST00000556628,;HNRNPC,3_prime_UTR_variant,,ENST00000336053,;HNRNPC,3_prime_UTR_variant,,ENST00000556513,;HNRNPC,3_prime_UTR_variant,,ENST00000553753,;HNRNPC,3_prime_UTR_variant,,ENST00000556897,;HNRNPC,3_prime_UTR_variant,,ENST00000553300,;HNRNPC,3_prime_UTR_variant,,ENST00000556142,;HNRNPC,3_prime_UTR_variant,,ENST00000555309,;HNRNPC,3_prime_UTR_variant,,ENST00000554455,;HNRNPC,3_prime_UTR_variant,,ENST00000555914,;HNRNPC,3_prime_UTR_variant,,ENST00000557201,;HNRNPC,3_prime_UTR_variant,,ENST00000320084,;HNRNPC,3_prime_UTR_variant,,ENST00000430246,;HNRNPC,3_prime_UTR_variant,,ENST00000449098,;HNRNPC,downstream_gene_variant,,ENST00000554539,;HNRNPC,downstream_gene_variant,,ENST00000554383,;HNRNPC,downstream_gene_variant,,ENST00000555137,;HNRNPC,downstream_gene_variant,,ENST00000554891,;HNRNPC,downstream_gene_variant,,ENST00000557157,;HNRNPC,downstream_gene_variant,,ENST00000420743,;HNRNPC,downstream_gene_variant,,ENST00000555215,;LINC00641,upstream_gene_variant,,ENST00000555688,;HNRNPC,3_prime_UTR_variant,,ENST00000557442,;HNRNPC,non_coding_transcript_exon_variant,,ENST00000553444,;HNRNPC,downstream_gene_variant,,ENST00000554417,;HNRNPC,downstream_gene_variant,,ENST00000555585,;	1295	13	15	SUCCESS
ACSM3	6296	.	GRCh37	16	20808320	20808320	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs201704352	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	153	275	0	ENST00000289416.5:c.*26A>G			ENST00000289416	NM_005622.3			0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS10589.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTATAAAA	NONE	byCluster|by1000G	.	.	G:0	.	ENSP00000289416	G:0	14/14	.	.	.	.	.	.	.	.	rs201704352	14/14	PASS	ENST00000289416	Transcript	.	G:0.0002	ENSG00000005187	10522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	ACSM3_HUMAN	ACSM3	HGNC	H3BVD5_HUMAN,H3BTG0_HUMAN,H3BT38_HUMAN,H3BR33_HUMAN	.	UPI0000251DAA	SNV	ACSM3,3_prime_UTR_variant,,ENST00000562251,;ACSM3,3_prime_UTR_variant,,ENST00000289416,;ERI2,3_prime_UTR_variant,,ENST00000569729,;ERI2,3_prime_UTR_variant,,ENST00000357967,;ERI2,3_prime_UTR_variant,,ENST00000564349,;ACSM3,3_prime_UTR_variant,,ENST00000450120,;ERI2,intron_variant,,ENST00000300005,;ACSM3,downstream_gene_variant,,ENST00000569141,;ERI2,downstream_gene_variant,,ENST00000389345,;ERI2,downstream_gene_variant,,ENST00000563117,;ACSM3,non_coding_transcript_exon_variant,,ENST00000567711,;ACSM3,downstream_gene_variant,,ENST00000567387,;ACSM3,non_coding_transcript_exon_variant,,ENST00000567006,;ERI2,non_coding_transcript_exon_variant,,ENST00000562215,;ERI2,intron_variant,,ENST00000562987,;ERI2,downstream_gene_variant,,ENST00000568805,;ERI2,downstream_gene_variant,,ENST00000567859,;	2262	275	192	SUCCESS
KRTAP1-5	83895	.	GRCh37	17	39182762	39182762	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	102	4	99	0	ENST00000361883.5:c.*121A>G			ENST00000361883	NM_031957.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42321.1	.	MUTECT|MUSE	.	ATACTTAGTAG	NONE	.	.	.	.	.	ENSP00000355302	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361883	Transcript	.	.	ENSG00000221852	16777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KRA15_HUMAN	KRTAP1-5	HGNC	.	.	UPI00000707CB	SNV	KRTAP1-5,3_prime_UTR_variant,,ENST00000361883,;KRTAP1-4,downstream_gene_variant,,ENST00000377747,;	693	99	106	SUCCESS
SMARCD2	6603	.	GRCh37	17	61910151	61910151	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	10	44	1	ENST00000448276.2:c.*147T>C			ENST00000448276	NM_001098426.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45756.1	.	MUTECT|MUSE	.	ATCCTATCACT	NONE	.	.	.	.	.	ENSP00000392617	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000448276	Transcript	.	.	ENSG00000108604	11107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMRD2_HUMAN	SMARCD2	HGNC	J3KT18_HUMAN,J3KMX2_HUMAN	.	UPI0000D695F8	SNV	SMARCD2,3_prime_UTR_variant,,ENST00000450364,;SMARCD2,3_prime_UTR_variant,,ENST00000323347,;SMARCD2,3_prime_UTR_variant,,ENST00000448276,;SMARCD2,3_prime_UTR_variant,,ENST00000225742,;PSMC5,downstream_gene_variant,,ENST00000581882,;PSMC5,downstream_gene_variant,,ENST00000579708,;PSMC5,downstream_gene_variant,,ENST00000375812,;PSMC5,downstream_gene_variant,,ENST00000580864,;PSMC5,downstream_gene_variant,,ENST00000581842,;PSMC5,downstream_gene_variant,,ENST00000585123,;PSMC5,downstream_gene_variant,,ENST00000584320,;PSMC5,downstream_gene_variant,,ENST00000310144,;PSMC5,downstream_gene_variant,,ENST00000582130,;FTSJ3,upstream_gene_variant,,ENST00000580295,;PSMC5,downstream_gene_variant,,ENST00000582420,;SMARCD2,downstream_gene_variant,,ENST00000584483,;PSMC5,downstream_gene_variant,,ENST00000583283,;PSMC5,downstream_gene_variant,,ENST00000584657,;PSMC5,downstream_gene_variant,,ENST00000580265,;PSMC5,downstream_gene_variant,,ENST00000578570,;PSMC5,downstream_gene_variant,,ENST00000584536,;SMARCD2,downstream_gene_variant,,ENST00000578234,;PSMC5,downstream_gene_variant,,ENST00000580063,;PSMC5,downstream_gene_variant,,ENST00000579031,;PSMC5,downstream_gene_variant,,ENST00000581764,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000581832,;PSMC5,downstream_gene_variant,,ENST00000584880,;SMARCD2,downstream_gene_variant,,ENST00000584400,;SMARCD2,downstream_gene_variant,,ENST00000577686,;PSMC5,downstream_gene_variant,,ENST00000579147,;PSMC5,downstream_gene_variant,,ENST00000585242,;	2009	45	32	SUCCESS
FAM46C	0	.	GRCh37	1	118169654	118169654	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1295272747	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	23	125	0	ENST00000369448.3:c.*2988T>C			ENST00000369448	NM_017709.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS896.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCTGAAAC	NONE	byCluster	.	.	.	.	ENSP00000358458	.	2/2	.	.	.	.	.	.	.	.	rs755925617	2/2	PASS	ENST00000369448	Transcript	.	.	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	4411	125	94	SUCCESS
MTHFR	4524	.	GRCh37	1	11847379	11847379	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	20	0	ENST00000376590.3:c.*3358G>T			ENST00000376590	NM_005957.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS137.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATCCCAGC	NONE	.	.	.	.	.	ENSP00000365777	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376592	Transcript	.	.	ENSG00000177000	7436	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTHR_HUMAN	MTHFR	HGNC	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN	.	UPI0000141098	SNV	MTHFR,3_prime_UTR_variant,,ENST00000376590,;MTHFR,3_prime_UTR_variant,,ENST00000376583,;MTHFR,3_prime_UTR_variant,,ENST00000376592,;C1orf167,intron_variant,,ENST00000449278,;C1orf167,intron_variant,,ENST00000312793,;C1orf167,intron_variant,,ENST00000433342,;C1orf167,intron_variant,,ENST00000444493,;MTHFR,downstream_gene_variant,,ENST00000376585,;C1orf167,upstream_gene_variant,,ENST00000482358,;C1orf167,intron_variant,,ENST00000475041,;	5458	20	20	SUCCESS
DHRS3	9249	.	GRCh37	1	12628239	12628239	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	26	0	ENST00000376223.2:c.*130A>G			ENST00000376223	NM_004753.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS146.1	.	MUTECT|MUSE	.	CCGGATTCTTC	NONE	.	.	.	.	.	ENSP00000365397	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000376223	Transcript	.	.	ENSG00000162496	17693	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHRS3_HUMAN	DHRS3	HGNC	Q5SUY4_HUMAN,Q0QD44_HUMAN	.	UPI000006EE74	SNV	DHRS3,3_prime_UTR_variant,,ENST00000376223,;RNU6ATAC18P,downstream_gene_variant,,ENST00000408413,;DHRS3,downstream_gene_variant,,ENST00000464917,;	1423	26	21	SUCCESS
ENSA	2029	.	GRCh37	1	150595096	150595096	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs368889778	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	11	61	0	ENST00000369014.5:c.*224A>G			ENST00000369014				0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS959.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGTTATTTGGA	NONE	byFrequency|byCluster|by1000G	111	.	C:0.0159	.	ENSP00000341743	C:0	.	.	.	.	.	.	.	.	.	rs368889778	.	PASS	ENST00000339643	Transcript	.	C:0.0036	ENSG00000143420	3360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0.002	.	.	ENSA_HUMAN	ENSA	HGNC	.	.	UPI00001C1A8D	SNV	ENSA,3_prime_UTR_variant,,ENST00000369014,;ENSA,3_prime_UTR_variant,,ENST00000369009,;ENSA,3_prime_UTR_variant,,ENST00000361631,;ENSA,3_prime_UTR_variant,,ENST00000361532,;ENSA,intron_variant,,ENST00000369016,;ENSA,downstream_gene_variant,,ENST00000503241,;ENSA,downstream_gene_variant,,ENST00000356527,;ENSA,downstream_gene_variant,,ENST00000503345,;ENSA,downstream_gene_variant,,ENST00000362052,;ENSA,downstream_gene_variant,,ENST00000513281,;ENSA,downstream_gene_variant,,ENST00000271690,;ENSA,downstream_gene_variant,,ENST00000339643,;ENSA,downstream_gene_variant,,ENST00000505321,;ENSA,downstream_gene_variant,,ENST00000354702,;ENSA,downstream_gene_variant,,ENST00000509582,;	.	61	63	SUCCESS
FCGR2B	2213	.	GRCh37	1	161647370	161647370	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	100	20	109	1	ENST00000358671.5:c.*27A>C			ENST00000358671	NM_001002275.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30924.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGAGAAGA	NONE	.	.	.	.	.	ENSP00000351497	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358671	Transcript	.	.	ENSG00000072694	3618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FCG2B_HUMAN	FCGR2B	HGNC	Q8NIA0_HUMAN,Q8NI89_HUMAN,Q8IZV7_HUMAN,Q8IU79_HUMAN	.	UPI0000001600	SNV	FCGR2B,3_prime_UTR_variant,,ENST00000403078,;FCGR2B,3_prime_UTR_variant,,ENST00000367960,;FCGR2B,3_prime_UTR_variant,,ENST00000236937,;FCGR2B,3_prime_UTR_variant,,ENST00000367962,;FCGR2B,3_prime_UTR_variant,,ENST00000358671,;FCGR2B,3_prime_UTR_variant,,ENST00000367961,;FCGR2B,downstream_gene_variant,,ENST00000428605,;RP11-25K21.1,upstream_gene_variant,,ENST00000453111,;FCGR2B,non_coding_transcript_exon_variant,,ENST00000480308,;FCGR2B,downstream_gene_variant,,ENST00000485778,;	1041	110	121	SUCCESS
SFT2D2	375035	.	GRCh37	1	168215835	168215835	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	30	36	0	ENST00000271375.4:c.*4057A>G			ENST00000271375	NM_199344.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1271.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAATGACG	NONE	.	.	.	.	.	ENSP00000271375	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000271375	Transcript	.	.	ENSG00000213064	25140	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFT2B_HUMAN	SFT2D2	HGNC	.	.	UPI0000072549	SNV	SFT2D2,3_prime_UTR_variant,,ENST00000271375,;SFT2D2,downstream_gene_variant,,ENST00000367825,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000358576,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000604892,;	4612	36	49	SUCCESS
PARD6B	84612	.	GRCh37	20	49367056	49367056	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1463708439	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	44	0	ENST00000371610.2:c.*31A>G			ENST00000371610	NM_032521.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33485.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGATGCCA	NONE	.	.	.	.	.	ENSP00000360672	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371610	Transcript	.	.	ENSG00000124171	16245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PAR6B_HUMAN	PARD6B	HGNC	.	.	UPI000006FA7C	SNV	PARD6B,3_prime_UTR_variant,,ENST00000371610,;PARD6B,intron_variant,,ENST00000396039,;	1393	44	52	SUCCESS
KCNE1	3753	.	GRCh37	21	35821461	35821461	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	55	60	0	ENST00000337385.3:c.*82G>A			ENST00000337385	NM_001270403.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13636.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TCCATCACAAT	NONE	.	.	.	.	.	ENSP00000337255	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337385	Transcript	.	.	ENSG00000180509	6240	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNE1_HUMAN	KCNE1	HGNC	Q5DI96_HUMAN,C7S316_HUMAN,B4E2L9_HUMAN,A7LFK4_HUMAN	.	UPI000012F141	SNV	KCNE1,3_prime_UTR_variant,,ENST00000399286,;KCNE1,3_prime_UTR_variant,,ENST00000399289,;KCNE1,3_prime_UTR_variant,,ENST00000432085,;KCNE1,3_prime_UTR_variant,,ENST00000337385,;KCNE1,downstream_gene_variant,,ENST00000416357,;KCNE1,downstream_gene_variant,,ENST00000399284,;	848	60	60	SUCCESS
FGG	2266	.	GRCh37	4	155525911	155525911	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	31	0	ENST00000336098.3:c.*75C>T			ENST00000336098	NM_021870.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3788.1	.	MUTECT|MUSE	.	ATATAGTAAGA	NONE	.	.	.	.	.	ENSP00000336829	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000336098	Transcript	1	.	ENSG00000171557	3694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FIBG_HUMAN	FGG	HGNC	C9JU00_HUMAN,C9JPQ9_HUMAN	.	UPI000012A78D	SNV	FGG,3_prime_UTR_variant,,ENST00000407946,;FGG,3_prime_UTR_variant,,ENST00000336098,;FGG,intron_variant,,ENST00000404648,;FGG,intron_variant,,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,intron_variant,,ENST00000492082,;	1476	31	19	SUCCESS
SHISA3	152573	.	GRCh37	4	42403584	42403585	+	3_prime_UTR_variant	3'UTR	DEL	GA	GA	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	GA	GA	.	.	.	.	.	.	.	.	.	.	.	.	.	14	9	32	0	ENST00000319234.4:c.*117_*118del			ENST00000319234	NM_001080505.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33979.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATGGAGGAGCATG	NONE	.	.	.	.	.	ENSP00000326445	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319234	Transcript	.	.	ENSG00000178343	25159	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SHSA3_HUMAN	SHISA3	HGNC	.	.	UPI000020BC30	deletion	SHISA3,3_prime_UTR_variant,,ENST00000319234,;	1051-1052	32	23	SUCCESS
TECRL	253017	.	GRCh37	4	65145687	65145687	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs377465093	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	78	0	ENST00000381210.3:c.*103C>G			ENST00000381210	NM_001010874.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33990.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACTGTTGCT	NONE	.	.	.	.	.	ENSP00000370607	.	12/12	.	.	.	.	.	.	.	.	rs377465093	12/12	PASS	ENST00000381210	Transcript	.	.	ENSG00000205678	27365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TECRL_HUMAN	TECRL	HGNC	D6RBZ3_HUMAN	.	UPI0000141A54	SNV	TECRL,3_prime_UTR_variant,,ENST00000381210,;TECRL,intron_variant,,ENST00000507440,;TECRL,downstream_gene_variant,,ENST00000511997,;	1306	78	43	SUCCESS
PPEF2	5470	.	GRCh37	4	76781781	76781781	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs760520167	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	3	54	0	ENST00000286719.7:c.*39C>T			ENST00000286719	NM_006239.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34013.1	.	MUTECT|MUSE|VARSCANS	.	GCATTGCCTAT	NONE	byFrequency	.	.	.	.	ENSP00000286719	.	17/17	.	.	.	.	.	.	.	.	rs760520167	17/17	PASS	ENST00000286719	Transcript	.	.	ENSG00000156194	9244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPE2_HUMAN	PPEF2	HGNC	E7EPQ9_HUMAN	.	UPI0000163923	SNV	PPEF2,3_prime_UTR_variant,,ENST00000286719,;PPEF2,3_prime_UTR_variant,,ENST00000511880,;	2658	54	39	SUCCESS
PJA2	9867	.	GRCh37	5	108672798	108672798	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	42	0	ENST00000361189.2:c.*134A>G			ENST00000361189	NM_014819.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4099.1	.	MUTECT|MUSE	.	GTTAATATTCT	NONE	.	.	.	.	.	ENSP00000354775	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000361189	Transcript	.	.	ENSG00000198961	17481	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PJA2_HUMAN	PJA2	HGNC	.	.	UPI000013D192	SNV	PJA2,3_prime_UTR_variant,,ENST00000361189,;PJA2,3_prime_UTR_variant,,ENST00000361557,;	2501	42	36	SUCCESS
WDR36	134430	.	GRCh37	5	110462635	110462635	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	228	11	200	0	ENST00000506538.2:c.*54T>C			ENST00000506538	NM_139281.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4102.1	.	MUTECT|MUSE	.	TGAACTCATTT	NONE	.	.	.	.	.	ENSP00000423067	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000506538	Transcript	1	.	ENSG00000134987	30696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	WDR36_HUMAN	WDR36	HGNC	D6RFM8_HUMAN	.	UPI000007018C	SNV	WDR36,3_prime_UTR_variant,,ENST00000513710,;WDR36,3_prime_UTR_variant,,ENST00000506538,;	3483	200	239	SUCCESS
KIF20A	10112	.	GRCh37	5	137523281	137523281	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs201817182	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	2	18	0	ENST00000394894.3:c.*179T>G			ENST00000394894	NM_005733.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4199.1	.	MUTECT|MUSE	.	TGTTGTTTTTT	NONE	byCluster|by1000G	.	.	.	.	ENSP00000378356	.	19/19	.	.	.	.	.	.	.	.	rs201817182	19/19	PASS	ENST00000394894	Transcript	.	.	ENSG00000112984	9787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI20A_HUMAN	KIF20A	HGNC	D6RBN1_HUMAN,D6R9E4_HUMAN	.	UPI0000000CCE	SNV	KIF20A,3_prime_UTR_variant,,ENST00000394894,;KIF20A,3_prime_UTR_variant,,ENST00000508792,;KIF20A,downstream_gene_variant,,ENST00000504621,;CDC23,downstream_gene_variant,,ENST00000394886,;CDC23,downstream_gene_variant,,ENST00000471692,;CDC23,downstream_gene_variant,,ENST00000464806,;KIF20A,downstream_gene_variant,,ENST00000502338,;CDC23,downstream_gene_variant,,ENST00000475021,;	3078	18	8	SUCCESS
MFAP3	4238	.	GRCh37	5	153434731	153434731	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs1022049353	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	95	0				ENST00000322602				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4324.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCATATGA	NONE	.	.	.	.	.	ENSP00000409933	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000436816	Transcript	.	.	ENSG00000037749	7034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MFAP3_HUMAN	MFAP3	HGNC	E5RJ59_HUMAN,E5RHQ6_HUMAN	.	UPI00000012A1	SNV	MFAP3,3_prime_UTR_variant,,ENST00000436816,;MFAP3,downstream_gene_variant,,ENST00000322602,;MFAP3,downstream_gene_variant,,ENST00000439768,;MFAP3,downstream_gene_variant,,ENST00000522782,;MFAP3,downstream_gene_variant,,ENST00000522177,;MFAP3,intron_variant,,ENST00000520327,;MFAP3,intron_variant,,ENST00000521527,;MFAP3,downstream_gene_variant,,ENST00000519928,;	2766	95	97	SUCCESS
LIN28B	389421	.	GRCh37	6	105526660	105526660	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	86	0	ENST00000345080.4:c.*2A>T			ENST00000345080	NM_001004317.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34504.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAACAGGTCT	NONE	.	.	.	.	.	ENSP00000344401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000345080	Transcript	.	.	ENSG00000187772	32207	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LN28B_HUMAN	LIN28B	HGNC	A7E2T3_HUMAN	.	UPI000035E7BD	SNV	LIN28B,3_prime_UTR_variant,,ENST00000345080,;	958	86	58	SUCCESS
HIST1H2BK	0	.	GRCh37	6	27107437	27107437	+	intron_variant	Intron	SNP	C	C	A	rs780853367	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	25	137	0	ENST00000396891.4:c.*10-977G>T			ENST00000396891	NM_080593.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4620.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCCTTTTT	NONE	.	.	.	.	.	ENSP00000346316	.	1/1	.	.	.	.	.	.	.	.	rs780853367	1/1	PASS	ENST00000354348	Transcript	.	.	ENSG00000198339	4793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H4_HUMAN	HIST1H4I	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4I,3_prime_UTR_variant,,ENST00000354348,;HIST1H2BK,intron_variant,,ENST00000396891,;HIST1H2AG,downstream_gene_variant,,ENST00000359193,;	362	137	178	SUCCESS
GPER1	2852	.	GRCh37	7	1132903	1132903	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	4	63	0	ENST00000297469.3:c.*411C>A			ENST00000297469	NM_001505.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5322.1	.	MUTECT|MUSE	.	TAAAGCAAATC	NONE	.	.	.	.	.	ENSP00000380281	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397092	Transcript	.	.	ENSG00000164850	4485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPER1_HUMAN	GPER1	HGNC	C9J3W2_HUMAN	.	UPI00000503F2	SNV	GPER1,3_prime_UTR_variant,,ENST00000297469,;GPER1,3_prime_UTR_variant,,ENST00000397092,;GPER1,3_prime_UTR_variant,,ENST00000397088,;C7orf50,intron_variant,,ENST00000397100,;C7orf50,intron_variant,,ENST00000357429,;C7orf50,intron_variant,,ENST00000397098,;C7orf50,intron_variant,,ENST00000491163,;GPER1,downstream_gene_variant,,ENST00000413368,;GPER1,downstream_gene_variant,,ENST00000401670,;C7orf50,intron_variant,,ENST00000488073,;	2423	63	66	SUCCESS
FUBP3	8939	.	GRCh37	9	133512503	133512503	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	25	0	ENST00000319725.9:c.*94A>C			ENST00000319725	NM_003934.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43893.1	.	MUTECT|MUSE	.	TGATGAAGAAC	NONE	.	.	.	.	.	ENSP00000318177	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000319725	Transcript	.	.	ENSG00000107164	4005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUBP3_HUMAN	FUBP3	HGNC	.	.	UPI00001C1EAA	SNV	FUBP3,3_prime_UTR_variant,,ENST00000319725,;FUBP3,non_coding_transcript_exon_variant,,ENST00000492199,;FUBP3,downstream_gene_variant,,ENST00000472006,;	1888	25	23	SUCCESS
MCF2	4168	.	GRCh37	X	138729064	138729064	+	upstream_gene_variant	5'Flank	DEL	T	T	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	322	33	269	0				ENST00000370576	NM_005369.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS55517.1	.	INDELOCATOR|VARSCANI	.	GCCACCTACAAC	NONE	.	.	.	.	.	ENSP00000430276	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000519895	Transcript	.	.	ENSG00000101977	6940	.	.	HIGH	2/28	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MCF2_HUMAN	MCF2	HGNC	.	.	UPI0001C33995	deletion	MCF2,splice_acceptor_variant,,ENST00000520602,;MCF2,splice_acceptor_variant,,ENST00000519895,;MCF2,splice_acceptor_variant,,ENST00000414978,;MCF2,splice_acceptor_variant,,ENST00000370578,;MCF2,upstream_gene_variant,,ENST00000370573,;MCF2,upstream_gene_variant,,ENST00000338585,;MCF2,upstream_gene_variant,,ENST00000536274,;MCF2,upstream_gene_variant,,ENST00000370576,;	.	269	356	SUCCESS
MED12	9968	.	GRCh37	X	70338479	70338479	+	upstream_gene_variant	5'Flank	DEL	C	C	-	novel	.	TCGA-DD-AACP-01	TCGA-DD-AACP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	70	60	0				ENST00000374080				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43970.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACGTGCCCCCT	NONE	.	94	.	.	.	ENSP00000363193	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374080	Transcript	.	.	ENSG00000184634	11957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MED12_HUMAN	MED12	HGNC	Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN	.	UPI00004257E2	deletion	MED12,5_prime_UTR_variant,,ENST00000333646,;MED12,upstream_gene_variant,,ENST00000429213,;MED12,upstream_gene_variant,,ENST00000374102,;MED12,upstream_gene_variant,,ENST00000374080,;	.	60	149	SUCCESS
MMP1	4312	.	GRCh37	11	102661103	102661103	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs767057350	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	42	135	0	ENST00000315274.6:c.*40A>T			ENST00000315274	NM_002421.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8322.1	.	RADIA|MUTECT|MUSE	.	TTCTTTGGACT	NONE	.	.	.	.	.	ENSP00000322788	.	10/10	.	.	.	.	.	.	.	.	rs767057350	10/10	PASS	ENST00000315274	Transcript	.	.	ENSG00000196611	7155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MMP1_HUMAN	MMP1	HGNC	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN	.	UPI00000422BA	SNV	MMP1,3_prime_UTR_variant,,ENST00000315274,;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,intron_variant,,ENST00000544704,;	1518	135	108	SUCCESS
DDI1	414301	.	GRCh37	11	103909116	103909116	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	33	106	0	ENST00000302259.3:c.*375T>A			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTTACAA	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1809	106	78	SUCCESS
DDI1	414301	.	GRCh37	11	103909862	103909862	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	45	140	0	ENST00000302259.3:c.*1121G>A			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31660.1	.	RADIA|MUTECT|MUSE	.	ATGCAGGGGAA	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	2555	140	113	SUCCESS
KCNA1	3736	.	GRCh37	12	5022633	5022633	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	56	163	0	ENST00000382545.3:c.*601T>A			ENST00000382545	NM_000217.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8535.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTTATAA	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	3196	163	141	SUCCESS
PABPC3	5042	.	GRCh37	13	25672518	25672518	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	182	139	355	0	ENST00000281589.3:c.*286A>T			ENST00000281589	NM_030979.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9311.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTAGACCC	NONE	.	.	.	.	.	ENSP00000281589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000281589	Transcript	.	.	ENSG00000151846	8556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP3_HUMAN	PABPC3	HGNC	Q5VX58_HUMAN,Q2VIP3_HUMAN	.	UPI00001311AB	SNV	PABPC3,3_prime_UTR_variant,,ENST00000281589,;	2219	355	321	SUCCESS
DACT1	51339	.	GRCh37	14	59114740	59114740	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	55	143	0				ENST00000335867				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9736.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGTGCAAT	NONE	.	852	.	.	.	ENSP00000337439	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335867	Transcript	.	.	ENSG00000165617	17748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DACT1_HUMAN	DACT1	HGNC	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN	.	UPI000013E4D3	SNV	DACT1,3_prime_UTR_variant,,ENST00000395153,;DACT1,downstream_gene_variant,,ENST00000335867,;DACT1,downstream_gene_variant,,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000541264,;DACT1,downstream_gene_variant,,ENST00000555845,;	.	143	122	SUCCESS
ZNF607	84775	.	GRCh37	19	38187741	38187741	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	17	0	ENST00000355202.4:c.*1200A>T			ENST00000355202	NM_032689.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33006.1	.	RADIA|MUTECT|MUSE	.	CTCTCTGCTTC	NONE	.	.	.	.	.	ENSP00000347338	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000355202	Transcript	.	.	ENSG00000198182	28192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN607_HUMAN	ZNF607	HGNC	Q59G67_HUMAN,K7EN48_HUMAN	.	UPI000040BC07	SNV	ZNF607,3_prime_UTR_variant,,ENST00000395835,;ZNF607,3_prime_UTR_variant,,ENST00000355202,;ZNF607,downstream_gene_variant,,ENST00000590670,;ZNF781,upstream_gene_variant,,ENST00000358582,;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF781,upstream_gene_variant,,ENST00000590008,;ZFP30,upstream_gene_variant,,ENST00000587199,;ZFP30,upstream_gene_variant,,ENST00000586732,;ZNF781,upstream_gene_variant,,ENST00000593040,;ZFP30,upstream_gene_variant,,ENST00000589676,;ZNF781,upstream_gene_variant,,ENST00000585624,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;CTD-2528L19.3,upstream_gene_variant,,ENST00000589357,;	3887	17	10	SUCCESS
ZNF160	90338	.	GRCh37	19	53571266	53571266	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	49	0	ENST00000418871.1:c.*64A>G			ENST00000418871	NM_033288.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12859.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAGGATTCTGT	NONE	.	.	.	.	.	ENSP00000406201	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000429604	Transcript	.	.	ENSG00000170949	12948	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN160_HUMAN	ZNF160	HGNC	M0QZI7_HUMAN,M0QZ49_HUMAN,M0QXU9_HUMAN	.	UPI0000202B37	SNV	ZNF160,3_prime_UTR_variant,,ENST00000418871,;ZNF160,3_prime_UTR_variant,,ENST00000601421,;ZNF160,3_prime_UTR_variant,,ENST00000429604,;ZNF160,3_prime_UTR_variant,,ENST00000599056,;ZNF160,downstream_gene_variant,,ENST00000355147,;ZNF160,downstream_gene_variant,,ENST00000601982,;ZNF160,downstream_gene_variant,,ENST00000599247,;	2937	49	48	SUCCESS
SORT1	6272	.	GRCh37	1	109856532	109856532	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	16	49	0	ENST00000256637.6:c.*133C>G			ENST00000256637	NM_002959.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS798.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGCTTTG	NONE	.	.	.	.	.	ENSP00000256637	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000256637	Transcript	.	.	ENSG00000134243	11186	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SORT_HUMAN	SORT1	HGNC	.	.	UPI0000074182	SNV	SORT1,3_prime_UTR_variant,,ENST00000538502,;SORT1,3_prime_UTR_variant,,ENST00000256637,;SORT1,non_coding_transcript_exon_variant,,ENST00000485149,;	2688	49	42	SUCCESS
POLR3GL	84265	.	GRCh37	1	145475239	145475239	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	39	106	0				ENST00000369314	NM_032305.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30829.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACACAGCCTA	NONE	.	.	.	.	.	ENSP00000314103	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000323397	Transcript	.	.	ENSG00000181039	27639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34A_HUMAN	ANKRD34A	HGNC	.	.	UPI00001410C4	SNV	ANKRD34A,3_prime_UTR_variant,,ENST00000323397,;POLR3GL,upstream_gene_variant,,ENST00000369313,;POLR3GL,upstream_gene_variant,,ENST00000369314,;LIX1L,upstream_gene_variant,,ENST00000369308,;RP11-315I20.1,downstream_gene_variant,,ENST00000600340,;POLR3GL,upstream_gene_variant,,ENST00000446572,;POLR3GL,upstream_gene_variant,,ENST00000471706,;	3204	106	121	SUCCESS
SLC41A1	254428	.	GRCh37	1	205760503	205760503	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	39	0	ENST00000367137.3:c.*158A>T			ENST00000367137	NM_173854.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30988.1	.	MUTECT|MUSE	.	TTGGCTCAATG	NONE	.	.	.	.	.	ENSP00000356105	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000367137	Transcript	.	.	ENSG00000133065	19429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S41A1_HUMAN	SLC41A1	HGNC	B2RMP2_HUMAN	.	UPI000013E1E6	SNV	SLC41A1,3_prime_UTR_variant,,ENST00000367137,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000468057,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000484228,;	2715	39	47	SUCCESS
MAP10	54627	.	GRCh37	1	232945991	232945991	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	239	80	254	0	ENST00000418460.1:c.*2078A>T			ENST00000418460	NM_019090.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44334.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATAAGCTT	NONE	.	.	.	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,3_prime_UTR_variant,,ENST00000418460,;	5349	254	319	SUCCESS
ZNF695	57116	.	GRCh37	1	247150226	247150226	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	55	1	ENST00000339986.7:c.*43A>T			ENST00000339986	NM_020394.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44344.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGGTATTAA	NONE	.	.	.	.	.	ENSP00000341236	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000339986	Transcript	.	.	ENSG00000197472	30954	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN695_HUMAN	ZNF695	HGNC	.	.	UPI0000F734A8	SNV	ZNF695,3_prime_UTR_variant,,ENST00000339986,;ZNF695,intron_variant,,ENST00000487338,;ZNF695,intron_variant,,ENST00000498046,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000479214,;ZNF670,intron_variant,,ENST00000474541,;ZNF695,intron_variant,,ENST00000491337,;ZNF670,intron_variant,,ENST00000465049,;	1739	56	71	SUCCESS
UBE2U	148581	.	GRCh37	1	64709940	64709940	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1017811860	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	42	0	ENST00000371076.3:c.*124A>G			ENST00000371076	NM_152489.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS627.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCTATCTTG	NONE	.	.	.	.	.	ENSP00000360116	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371076	Transcript	.	.	ENSG00000177414	28559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBE2U_HUMAN	UBE2U	HGNC	.	.	UPI000006E065	SNV	UBE2U,3_prime_UTR_variant,,ENST00000371076,;UBE2U,intron_variant,,ENST00000608956,;UBE2U,intron_variant,,ENST00000608020,;UBE2U,intron_variant,,ENST00000371077,;UBE2U,non_coding_transcript_exon_variant,,ENST00000464349,;	1049	42	29	SUCCESS
ACADM	34	.	GRCh37	1	76228541	76228541	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	78	155	0	ENST00000370841.4:c.*93A>T			ENST00000370841	NM_000016.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44165.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGAAAACAAA	NONE	.	47	.	.	.	ENSP00000409612	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420607	Transcript	.	.	ENSG00000117054	89	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACADM_HUMAN	ACADM	HGNC	B4DVB1_HUMAN,B4DJE7_HUMAN	.	UPI0000EE3287	SNV	ACADM,3_prime_UTR_variant,,ENST00000370841,;ACADM,3_prime_UTR_variant,,ENST00000541113,;ACADM,3_prime_UTR_variant,,ENST00000370834,;ACADM,3_prime_UTR_variant,,ENST00000543667,;ACADM,downstream_gene_variant,,ENST00000420607,;ACADM,intron_variant,,ENST00000481374,;ACADM,3_prime_UTR_variant,,ENST00000526196,;ACADM,3_prime_UTR_variant,,ENST00000525808,;ACADM,non_coding_transcript_exon_variant,,ENST00000529059,;ACADM,intron_variant,,ENST00000528016,;ACADM,downstream_gene_variant,,ENST00000534334,;ACADM,downstream_gene_variant,,ENST00000526129,;ACADM,downstream_gene_variant,,ENST00000532207,;	.	155	162	SUCCESS
LZTR1	8216	.	GRCh37	22	21351673	21351673	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs746206940	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	51	0	ENST00000215739.8:c.*36G>A			ENST00000215739	NM_006767.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33606.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGCCGTGCCT	NONE	byFrequency	.	.	.	.	ENSP00000215739	.	21/21	.	.	.	.	.	.	.	.	rs746206940	21/21	PASS	ENST00000215739	Transcript	.	.	ENSG00000099949	6742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LZTR1_HUMAN	LZTR1	HGNC	B2R8T5_HUMAN	.	UPI000013C695	SNV	LZTR1,3_prime_UTR_variant,,ENST00000215739,;LZTR1,3_prime_UTR_variant,,ENST00000415817,;LZTR1,3_prime_UTR_variant,,ENST00000389355,;THAP7,downstream_gene_variant,,ENST00000399133,;THAP7,downstream_gene_variant,,ENST00000215742,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,3_prime_UTR_variant,,ENST00000452988,;LZTR1,non_coding_transcript_exon_variant,,ENST00000498649,;LZTR1,non_coding_transcript_exon_variant,,ENST00000463909,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000492480,;THAP7,downstream_gene_variant,,ENST00000488975,;THAP7,downstream_gene_variant,,ENST00000471723,;LZTR1,downstream_gene_variant,,ENST00000491432,;LZTR1,downstream_gene_variant,,ENST00000439171,;THAP7,downstream_gene_variant,,ENST00000476667,;THAP7,downstream_gene_variant,,ENST00000498406,;LZTR1,downstream_gene_variant,,ENST00000495142,;THAP7,downstream_gene_variant,,ENST00000471073,;LZTR1,downstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000415354,;	2918	51	42	SUCCESS
C2orf40	0	.	GRCh37	2	106694449	106694449	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	30	0	ENST00000238044.3:c.*67A>T			ENST00000238044	NM_032411.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2072.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTACACTA	NONE	.	.	.	.	.	ENSP00000238044	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000238044	Transcript	.	.	ENSG00000119147	24642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AUGN_HUMAN	C2orf40	HGNC	B8ZZE5_HUMAN	.	UPI000004220E	SNV	C2orf40,3_prime_UTR_variant,,ENST00000409944,;C2orf40,3_prime_UTR_variant,,ENST00000238044,;C2orf40,downstream_gene_variant,,ENST00000437659,;C2orf40,downstream_gene_variant,,ENST00000489174,;C2orf40,non_coding_transcript_exon_variant,,ENST00000479337,;	623	30	20	SUCCESS
FASTKD1	79675	.	GRCh37	2	170386325	170386325	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	61	219	0	ENST00000453153.2:c.*10A>T			ENST00000453153	NM_024622.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33318.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTTAAATA	NONE	.	.	.	.	.	ENSP00000400513	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000453153	Transcript	.	.	ENSG00000138399	26150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAKD1_HUMAN	FASTKD1	HGNC	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN	.	UPI000050BC4D	SNV	FASTKD1,3_prime_UTR_variant,,ENST00000453929,;FASTKD1,3_prime_UTR_variant,,ENST00000453153,;KLHL41,downstream_gene_variant,,ENST00000284669,;RP11-724O16.1,downstream_gene_variant,,ENST00000513963,;BBS5,downstream_gene_variant,,ENST00000554017,;FASTKD1,non_coding_transcript_exon_variant,,ENST00000495505,;FASTKD1,non_coding_transcript_exon_variant,,ENST00000490590,;FASTKD1,downstream_gene_variant,,ENST00000488951,;	2901	219	163	SUCCESS
SLC4A3	6508	.	GRCh37	2	220506624	220506624	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	19	0	ENST00000317151.3:c.*174T>C			ENST00000317151				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2446.1	.	MUTECT|MUSE	.	TGACCTCGCCT	NONE	.	.	.	.	.	ENSP00000362867	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000373762	Transcript	.	.	ENSG00000114923	11029	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3A3_HUMAN	SLC4A3	HGNC	.	.	UPI000022BE50	SNV	SLC4A3,3_prime_UTR_variant,,ENST00000373760,;SLC4A3,3_prime_UTR_variant,,ENST00000273063,;SLC4A3,3_prime_UTR_variant,,ENST00000317151,;SLC4A3,3_prime_UTR_variant,,ENST00000358055,;SLC4A3,3_prime_UTR_variant,,ENST00000373762,;RP11-256I23.3,upstream_gene_variant,,ENST00000597288,;SLC4A3,downstream_gene_variant,,ENST00000416910,;SLC4A3,downstream_gene_variant,,ENST00000425141,;	4223	19	20	SUCCESS
GPR35	2859	.	GRCh37	2	241570348	241570348	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	88	0	ENST00000319838.5:c.*49T>A			ENST00000319838	NM_001195381.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56174.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTGCTGC	NONE	.	.	.	.	.	ENSP00000415890	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000438013	Transcript	.	.	ENSG00000178623	4492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR35_HUMAN	GPR35	HGNC	.	.	UPI0000E6291C	SNV	GPR35,3_prime_UTR_variant,,ENST00000430267,;GPR35,3_prime_UTR_variant,,ENST00000438013,;GPR35,3_prime_UTR_variant,,ENST00000319838,;GPR35,3_prime_UTR_variant,,ENST00000403859,;GPR35,downstream_gene_variant,,ENST00000407714,;	1793	88	72	SUCCESS
C2orf42	54980	.	GRCh37	2	70377406	70377406	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	18	0	ENST00000264434.2:c.*82A>T			ENST00000264434	NM_017880.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1899.1	.	MUTECT|MUSE	.	CCATCTAAGTG	NONE	.	.	.	.	.	ENSP00000264434	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000264434	Transcript	.	.	ENSG00000115998	26056	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CB042_HUMAN	C2orf42	HGNC	C9JZF3_HUMAN,C9JV10_HUMAN,C9JS43_HUMAN,C9JKD5_HUMAN,C9JK51_HUMAN,C9JJF4_HUMAN,C9J5U1_HUMAN,C9J4L7_HUMAN	.	UPI0000037CF2	SNV	C2orf42,3_prime_UTR_variant,,ENST00000420306,;C2orf42,3_prime_UTR_variant,,ENST00000264434,;	2187	18	12	SUCCESS
JAGN1	84522	.	GRCh37	3	9935199	9935199	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	11	0	ENST00000307768.4:c.*138C>T			ENST00000307768	NM_032492.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2588.1	.	MUTECT|MUSE	.	AGCTCCTTTTG	NONE	.	.	.	.	.	ENSP00000306106	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307768	Transcript	.	.	ENSG00000171135	26926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JAGN1_HUMAN	JAGN1	HGNC	.	.	UPI0000072A5A	SNV	JAGN1,3_prime_UTR_variant,,ENST00000307768,;JAGN1,downstream_gene_variant,,ENST00000489724,;	859	11	8	SUCCESS
PLK4	10733	.	GRCh37	4	128819807	128819807	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	46	1	ENST00000270861.5:c.*111A>C			ENST00000270861	NM_014264.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3735.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATGAAAGAATT	NONE	.	.	.	.	.	ENSP00000270861	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000270861	Transcript	1	.	ENSG00000142731	11397	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLK4_HUMAN	PLK4	HGNC	.	.	UPI000007426E	SNV	PLK4,3_prime_UTR_variant,,ENST00000515069,;PLK4,3_prime_UTR_variant,,ENST00000507249,;PLK4,3_prime_UTR_variant,,ENST00000270861,;PLK4,downstream_gene_variant,,ENST00000508113,;PLK4,downstream_gene_variant,,ENST00000513090,;PLK4,downstream_gene_variant,,ENST00000514379,;PLK4,downstream_gene_variant,,ENST00000510192,;	3298	47	46	SUCCESS
IL3	3562	.	GRCh37	5	131398523	131398523	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	57	0	ENST00000296870.2:c.*39A>T			ENST00000296870	NM_000588.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4149.1	.	MUTECT|MUSE	.	ACCACAGAGCC	NONE	.	.	.	.	.	ENSP00000296870	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000296870	Transcript	.	.	ENSG00000164399	6011	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IL3_HUMAN	IL3	HGNC	.	.	UPI000002BEA8	SNV	IL3,3_prime_UTR_variant,,ENST00000296870,;	676	57	48	SUCCESS
C6orf120	387263	.	GRCh37	6	170104258	170104258	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	73	176	0	ENST00000332290.2:c.*1127T>G			ENST00000332290	NM_001029863.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34575.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTCTGCC	NONE	.	.	.	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,3_prime_UTR_variant,,ENST00000332290,;PHF10,intron_variant,,ENST00000366780,;PHF10,intron_variant,,ENST00000339209,;C6orf120,downstream_gene_variant,,ENST00000439249,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	2002	176	147	SUCCESS
MLIP	90523	.	GRCh37	6	54130765	54130765	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs562886904	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	165	92	304	0	ENST00000274897.5:c.*12A>T			ENST00000274897	NM_138569.2			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS4954.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGAGGCTG	NONE	by1000G	.	.	T:0	.	ENSP00000274897	T:0	13/13	.	.	.	.	.	.	.	.	rs562886904	13/13	PASS	ENST00000274897	Transcript	.	T:0.0002	ENSG00000146147	21355	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MLIP_HUMAN	MLIP	HGNC	.	.	UPI000013DA33	SNV	MLIP,3_prime_UTR_variant,,ENST00000358276,;MLIP,3_prime_UTR_variant,,ENST00000370876,;MLIP,3_prime_UTR_variant,,ENST00000274897,;MLIP,3_prime_UTR_variant,,ENST00000502396,;MLIP,3_prime_UTR_variant,,ENST00000509997,;MLIP,3_prime_UTR_variant,,ENST00000370877,;	1502	305	257	SUCCESS
LRRC8A	56262	.	GRCh37	9	131678666	131678666	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	44	0	ENST00000259324.5:c.*16C>A			ENST00000259324	NM_001127244.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35155.1	.	MUTECT|MUSE	.	CCCAGCACAGC	NONE	.	.	.	.	.	ENSP00000259324	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000259324	Transcript	.	.	ENSG00000136802	19027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRC8A_HUMAN	LRRC8A	HGNC	Q96SW8_HUMAN	.	UPI000004EF9E	SNV	LRRC8A,3_prime_UTR_variant,,ENST00000259324,;LRRC8A,3_prime_UTR_variant,,ENST00000372600,;LRRC8A,3_prime_UTR_variant,,ENST00000372599,;PHYHD1,upstream_gene_variant,,ENST00000428610,;PHYHD1,upstream_gene_variant,,ENST00000372592,;LRRC8A,non_coding_transcript_exon_variant,,ENST00000492784,;PHYHD1,upstream_gene_variant,,ENST00000412476,;	2972	44	44	SUCCESS
ACER2	340485	.	GRCh37	9	19408986	19408986	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs377429359	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	22	0				ENST00000340967	NM_001010887.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34992.1	.	MUTECT|MUSE	.	TAAAGCCGCTT	NONE	.	71	.	.	.	ENSP00000342609	.	.	.	.	.	.	.	.	.	.	rs377429359	.	PASS	ENST00000340967	Transcript	.	.	ENSG00000177076	23675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACER2_HUMAN	ACER2	HGNC	.	.	UPI000014042D	SNV	ACER2,5_prime_UTR_variant,,ENST00000380376,;ACER2,upstream_gene_variant,,ENST00000340967,;	.	22	19	SUCCESS
PNMA3	29944	.	GRCh37	X	152227798	152227798	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	3	66	0	ENST00000424805.1:c.*479G>T			ENST00000424805				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35435.2	.	MUTECT|MUSE	.	CCATGGCCTGG	NONE	.	.	.	.	.	ENSP00000407642	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000447306	Transcript	.	.	ENSG00000183837	18742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNMA3_HUMAN	PNMA3	HGNC	.	.	UPI00002123C6	SNV	PNMA3,3_prime_UTR_variant,,ENST00000447306,;PNMA3,3_prime_UTR_variant,,ENST00000370265,;PNMA3,downstream_gene_variant,,ENST00000370264,;PNMA3,3_prime_UTR_variant,,ENST00000424805,;	2722	66	63	SUCCESS
CXorf67	0	.	GRCh37	X	51151520	51151520	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	48	60	0	ENST00000342995.2:c.*140T>A			ENST00000342995				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCCTCTCCT	NONE	.	.	.	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,3_prime_UTR_variant,,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	1754	60	56	SUCCESS
HDAC8	55869	.	GRCh37	X	71549447	71549447	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACQ-01	TCGA-DD-AACQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	46	64	0	ENST00000373573.3:c.*457A>T			ENST00000373573	NM_018486.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14420.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTCTGCT	NONE	.	.	.	.	.	ENSP00000362674	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000373573	Transcript	.	.	ENSG00000147099	13315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HDAC8_HUMAN	HDAC8	HGNC	C9J8F0_HUMAN,B4DQE7_HUMAN	.	UPI00000411E6	SNV	HDAC8,3_prime_UTR_variant,,ENST00000373573,;HDAC8,3_prime_UTR_variant,,ENST00000373583,;HDAC8,3_prime_UTR_variant,,ENST00000373589,;HDAC8,downstream_gene_variant,,ENST00000429103,;HDAC8,downstream_gene_variant,,ENST00000470998,;	1933	64	56	SUCCESS
FAM188A	0	.	GRCh37	10	15820882	15820882	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	34	0	ENST00000277632.3:c.*109A>T			ENST00000277632	NM_024948.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7110.1	.	MUTECT|MUSE	.	TTATTTACAGT	NONE	.	.	.	.	.	ENSP00000277632	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000277632	Transcript	.	.	ENSG00000148481	23578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F188A_HUMAN	FAM188A	HGNC	.	.	UPI000006E7F1	SNV	FAM188A,3_prime_UTR_variant,,ENST00000277632,;FAM188A,3_prime_UTR_variant,,ENST00000378036,;FAM188A,non_coding_transcript_exon_variant,,ENST00000476912,;FAM188A,non_coding_transcript_exon_variant,,ENST00000477891,;	1668	34	46	SUCCESS
DUT	1854	.	GRCh37	15	48634443	48634444	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs200974717	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	22	0	ENST00000331200.3:c.*177dup			ENST00000331200	NM_001025248.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32231.1	.	INDELOCATOR|VARSCANI	.	ATCATTAAAAA	NONE	by1000G	.	.	.	.	ENSP00000370376	.	7/7	.	.	.	.	.	.	.	.	rs200974717	7/7	PASS	ENST00000331200	Transcript	.	.	ENSG00000128951	3078	9	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DUT_HUMAN	DUT	HGNC	.	.	UPI000035ECE0	insertion	DUT,3_prime_UTR_variant,,ENST00000558813,;DUT,3_prime_UTR_variant,,ENST00000455976,;DUT,3_prime_UTR_variant,,ENST00000331200,;DUT,3_prime_UTR_variant,,ENST00000559540,;DUT,downstream_gene_variant,,ENST00000559935,;DUT,downstream_gene_variant,,ENST00000558472,;DUT,downstream_gene_variant,,ENST00000559416,;DUT,downstream_gene_variant,,ENST00000558367,;DUT,downstream_gene_variant,,ENST00000561350,;DUT,3_prime_UTR_variant,,ENST00000558978,;DUT,downstream_gene_variant,,ENST00000559852,;	1020-1021	22	36	SUCCESS
DAPK3	1613	.	GRCh37	19	3959045	3959045	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	15	0	ENST00000301264.3:c.*54G>T			ENST00000301264	NM_001348.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12116.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCGCCCCCAC	NONE	.	.	.	.	.	ENSP00000442973	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000545797	Transcript	.	.	ENSG00000167657	2676	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAPK3_HUMAN	DAPK3	HGNC	M0R0D0_HUMAN,M0QYW5_HUMAN	.	UPI000006F7FA	SNV	DAPK3,3_prime_UTR_variant,,ENST00000545797,;DAPK3,3_prime_UTR_variant,,ENST00000301264,;DAPK3,downstream_gene_variant,,ENST00000594894,;MIR637,downstream_gene_variant,,ENST00000385000,;DAPK3,non_coding_transcript_exon_variant,,ENST00000595279,;	1663	15	14	SUCCESS
QSOX1	5768	.	GRCh37	1	180166572	180166572	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	19	23	0	ENST00000367602.3:c.*400G>A			ENST00000367602				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1337.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGGTGGGC	NONE	.	.	.	.	.	ENSP00000356574	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000367602	Transcript	.	.	ENSG00000116260	9756	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	QSOX1_HUMAN	QSOX1	HGNC	.	.	UPI000004C63C	SNV	QSOX1,3_prime_UTR_variant,,ENST00000367602,;QSOX1,3_prime_UTR_variant,,ENST00000443059,;QSOX1,3_prime_UTR_variant,,ENST00000367600,;	2718	23	28	SUCCESS
CXCL14	9547	.	GRCh37	5	134907476	134907476	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs201502825	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	14	18	0	ENST00000337225.5:c.*67T>A			ENST00000337225	NM_004887.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4188.1	.	SOMATICSNIPER|VARSCANS	.	TTTTTAATCTG	NONE	.	.	.	.	.	ENSP00000337065	.	4/4	.	.	.	.	.	.	.	.	rs201502825	4/4	PASS	ENST00000337225	Transcript	.	.	ENSG00000145824	10640	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXL14_HUMAN	CXCL14	HGNC	.	.	UPI000003B10C	SNV	CXCL14,3_prime_UTR_variant,,ENST00000337225,;CXCL14,3_prime_UTR_variant,,ENST00000512158,;CTC-321K16.1,intron_variant,,ENST00000509372,;	868	18	23	SUCCESS
EBAG9	9166	.	GRCh37	8	110577033	110577033	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACS-01	TCGA-DD-AACS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	16	0	ENST00000337573.5:c.*245G>A			ENST00000337573	NM_004215.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6313.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTGCTGTA	NONE	.	.	.	.	.	ENSP00000337675	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000337573	Transcript	.	.	ENSG00000147654	3123	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCAS1_HUMAN	EBAG9	HGNC	Q6R3F1_HUMAN,E9PN10_HUMAN,E9PJ40_HUMAN,E9PJ38_HUMAN	.	UPI000013343D	SNV	EBAG9,3_prime_UTR_variant,,ENST00000395785,;EBAG9,3_prime_UTR_variant,,ENST00000337573,;EBAG9,downstream_gene_variant,,ENST00000531677,;EBAG9,downstream_gene_variant,,ENST00000530629,;EBAG9,downstream_gene_variant,,ENST00000527709,;	1187	16	22	SUCCESS
TSPAN14	81619	.	GRCh37	10	82280420	82280420	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	33	110	0				ENST00000372156				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCATCCTA	NONE	.	.	.	.	.	ENSP00000396270	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000429989	Transcript	.	.	ENSG00000108219	23303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN14_HUMAN	TSPAN14	HGNC	.	.	UPI000004ACAE	SNV	TSPAN14,3_prime_UTR_variant,,ENST00000429989,;TSPAN14,3_prime_UTR_variant,,ENST00000372164,;TSPAN14,downstream_gene_variant,,ENST00000372156,;TSPAN14,downstream_gene_variant,,ENST00000372157,;TSPAN14,downstream_gene_variant,,ENST00000481124,;TSPAN14,downstream_gene_variant,,ENST00000372158,;TSPAN14,downstream_gene_variant,,ENST00000341863,;TSPAN14,downstream_gene_variant,,ENST00000265450,;	3724	110	104	SUCCESS
C12orf68	0	.	GRCh37	12	48578987	48578987	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1241314083	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	21	96	0	ENST00000316554.3:c.*497C>A			ENST00000316554	NM_001013635.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31785.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCCTCAC	NONE	.	.	.	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,3_prime_UTR_variant,,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	1622	96	70	SUCCESS
KRT2	3849	.	GRCh37	12	53038715	53038715	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	43	0	ENST00000309680.3:c.*88G>T			ENST00000309680	NM_000423.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8835.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGCTGCCA	NONE	.	.	.	.	.	ENSP00000310861	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000309680	Transcript	.	.	ENSG00000172867	6439	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K22E_HUMAN	KRT2	HGNC	.	.	UPI0000367804	SNV	KRT2,3_prime_UTR_variant,,ENST00000309680,;KRT2,downstream_gene_variant,,ENST00000547106,;	2030	43	52	SUCCESS
ISLR2	57611	.	GRCh37	15	74427842	74427842	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	25	70	0	ENST00000361742.3:c.*509T>C			ENST00000361742	NM_001130136.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10259.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATTTATT	NONE	.	.	.	.	.	ENSP00000355402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000361742	Transcript	.	.	ENSG00000167178	29286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ISLR2_HUMAN	ISLR2	HGNC	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN	.	UPI000004C60F	SNV	ISLR2,3_prime_UTR_variant,,ENST00000361742,;ISLR2,3_prime_UTR_variant,,ENST00000435464,;ISLR2,intron_variant,,ENST00000445793,;ISLR2,intron_variant,,ENST00000419208,;ISLR2,downstream_gene_variant,,ENST00000565540,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000453268,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000565159,;ISLR2,intron_variant,,ENST00000561975,;	3516	70	90	SUCCESS
GINS2	51659	.	GRCh37	16	85711658	85711658	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	15	0	ENST00000253462.3:c.*160T>C			ENST00000253462	NM_016095.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10953.1	.	MUTECT|MUSE	.	GACTAATCACA	NONE	.	.	.	.	.	ENSP00000253462	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000253462	Transcript	.	.	ENSG00000131153	24575	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSF2_HUMAN	GINS2	HGNC	M0R043_HUMAN,M0QXS3_HUMAN	.	UPI000006D930	SNV	GINS2,3_prime_UTR_variant,,ENST00000253462,;GSE1,downstream_gene_variant,,ENST00000253458,;GSE1,downstream_gene_variant,,ENST00000405402,;GSE1,downstream_gene_variant,,ENST00000412692,;GINS2,downstream_gene_variant,,ENST00000595355,;GINS2,downstream_gene_variant,,ENST00000596233,;GSE1,downstream_gene_variant,,ENST00000393243,;GSE1,downstream_gene_variant,,ENST00000469381,;	819	15	15	SUCCESS
ITGA2B	3674	.	GRCh37	17	42449562	42449562	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	3	13	0	ENST00000262407.5:c.*170A>G			ENST00000262407	NM_000419.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32665.1	.	MUTECT|MUSE	.	CAGTCTCTTTA	NONE	.	.	.	.	.	ENSP00000262407	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000262407	Transcript	.	.	ENSG00000005961	6138	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITA2B_HUMAN	ITGA2B	HGNC	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN	.	UPI00001868B8	SNV	ITGA2B,3_prime_UTR_variant,,ENST00000353281,;ITGA2B,3_prime_UTR_variant,,ENST00000262407,;ITGA2B,3_prime_UTR_variant,,ENST00000588098,;ITGA2B,3_prime_UTR_variant,,ENST00000587295,;ITGA2B,downstream_gene_variant,,ENST00000592462,;	3322	13	18	SUCCESS
ALOX15	246	.	GRCh37	17	4544965	4544965	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs769364047	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	33	162	0				ENST00000293761	NM_001140.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11049.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCGCTCCT	NONE	byFrequency	.	.	.	.	ENSP00000458832	.	2/15	.	.	.	.	.	.	.	.	rs769364047,COSM1651298	2/15	PASS	ENST00000570836	Transcript	.	.	ENSG00000161905	433	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	LOX15_HUMAN	ALOX15	HGNC	I3L175_HUMAN,D3DTK1_HUMAN	.	UPI000013E118	SNV	ALOX15,missense_variant,p.Ser16Arg,ENST00000545513,;ALOX15,5_prime_UTR_variant,,ENST00000570836,;ALOX15,5_prime_UTR_variant,,ENST00000574640,;ALOX15,5_prime_UTR_variant,,ENST00000576394,;ALOX15,upstream_gene_variant,,ENST00000293761,;ALOX15,upstream_gene_variant,,ENST00000572265,;ALOX15,non_coding_transcript_exon_variant,,ENST00000573740,;ALOX15,upstream_gene_variant,,ENST00000576572,;	79	163	166	SUCCESS
C17orf107	100130311	.	GRCh37	17	4804663	4804663	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	29	0	ENST00000381365.3:c.*835A>T			ENST00000381365	NM_001145536.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45591.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTAGAGTA	NONE	.	.	.	.	.	ENSP00000370770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381365	Transcript	.	.	ENSG00000205710	37238	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ107_HUMAN	C17orf107	HGNC	.	.	UPI00001C0FE1	SNV	C17orf107,3_prime_UTR_variant,,ENST00000381365,;CHRNE,intron_variant,,ENST00000293780,;C17orf107,downstream_gene_variant,,ENST00000521575,;MINK1,downstream_gene_variant,,ENST00000355280,;MINK1,downstream_gene_variant,,ENST00000347992,;MINK1,downstream_gene_variant,,ENST00000576037,;MINK1,downstream_gene_variant,,ENST00000453408,;CHRNE,intron_variant,,ENST00000575637,;CHRNE,intron_variant,,ENST00000572438,;MINK1,downstream_gene_variant,,ENST00000572330,;MINK1,downstream_gene_variant,,ENST00000574453,;MINK1,downstream_gene_variant,,ENST00000571207,;MINK1,downstream_gene_variant,,ENST00000574871,;	1635	29	17	SUCCESS
USH1G	124590	.	GRCh37	17	72913919	72913919	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	10	0	ENST00000319642.1:c.*249G>T			ENST00000319642	NM_173477.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32725.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	CTGCTCAGAAT	NONE	.	.	.	.	.	ENSP00000320076	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319642	Transcript	.	.	ENSG00000182040	16356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	USH1G_HUMAN	USH1G	HGNC	.	.	UPI00001BC010	SNV	USH1G,3_prime_UTR_variant,,ENST00000319642,;USH1G,downstream_gene_variant,,ENST00000579243,;	1818	10	17	SUCCESS
CSNK1D	1453	.	GRCh37	17	80202523	80202523	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	12	0	ENST00000314028.6:c.*134A>T			ENST00000314028	NM_001893.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11805.1	.	MUTECT|MUSE	.	GTCGCTGGGTG	NONE	.	.	.	.	.	ENSP00000324464	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000314028	Transcript	.	.	ENSG00000141551	2452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KC1D_HUMAN	CSNK1D	HGNC	.	.	UPI000012DC64	SNV	CSNK1D,3_prime_UTR_variant,,ENST00000314028,;CSNK1D,3_prime_UTR_variant,,ENST00000392334,;CSNK1D,intron_variant,,ENST00000398519,;SLC16A3,intron_variant,,ENST00000583025,;SLC16A3,downstream_gene_variant,,ENST00000581287,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000577578,;CSNK1D,downstream_gene_variant,,ENST00000582844,;CSNK1D,downstream_gene_variant,,ENST00000580565,;CSNK1D,downstream_gene_variant,,ENST00000584913,;CSNK1D,downstream_gene_variant,,ENST00000578904,;CSNK1D,3_prime_UTR_variant,,ENST00000580784,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000581737,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000578501,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000581241,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000584377,;CSNK1D,intron_variant,,ENST00000584672,;CSNK1D,downstream_gene_variant,,ENST00000403276,;CSNK1D,downstream_gene_variant,,ENST00000581108,;CSNK1D,downstream_gene_variant,,ENST00000269361,;AC132872.1,upstream_gene_variant,,ENST00000330292,;	1732	12	17	SUCCESS
CILP2	148113	.	GRCh37	19	19656840	19656840	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	38	0	ENST00000291495.5:c.*15T>A			ENST00000291495	NM_153221.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12405.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCTCGCTT	NONE	.	.	.	.	.	ENSP00000291495	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000291495	Transcript	.	.	ENSG00000160161	24213	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CILP2_HUMAN	CILP2	HGNC	.	.	UPI000013E04D	SNV	CILP2,3_prime_UTR_variant,,ENST00000291495,;CILP2,3_prime_UTR_variant,,ENST00000586018,;CILP2,downstream_gene_variant,,ENST00000588333,;	3571	38	56	SUCCESS
ZNF793	390927	.	GRCh37	19	38028877	38028877	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs963378075	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	16	0	ENST00000445217.1:c.*96G>A			ENST00000445217				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46062.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCGCGATCTC	NONE	.	.	.	.	.	ENSP00000396402	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000445217	Transcript	.	.	ENSG00000188227	33115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN793_HUMAN	ZNF793	HGNC	K7ERJ7_HUMAN	.	UPI0001536771	SNV	ZNF793,3_prime_UTR_variant,,ENST00000588578,;ZNF793,3_prime_UTR_variant,,ENST00000445217,;ZNF793,intron_variant,,ENST00000589319,;ZNF793,downstream_gene_variant,,ENST00000587143,;ZNF793,downstream_gene_variant,,ENST00000542455,;ZNF793,downstream_gene_variant,,ENST00000587490,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,downstream_gene_variant,,ENST00000587986,;ZNF793,intron_variant,,ENST00000586187,;	1352	16	20	SUCCESS
C3	718	.	GRCh37	19	6677845	6677845	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs111617932	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	25	0	ENST00000245907.6:c.*48C>A			ENST00000245907	NM_000064.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32883.1	.	RADIA|MUTECT|VARSCANS	.	GACACGTGAGA	NONE	byCluster	.	.	.	.	ENSP00000245907	.	41/41	.	.	.	.	.	.	.	.	rs111617932	41/41	PASS	ENST00000245907	Transcript	1	.	ENSG00000125730	1318	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CO3_HUMAN	C3	HGNC	Q6LDJ0_HUMAN,M0R1Q1_HUMAN	.	UPI000013EC9B	SNV	C3,3_prime_UTR_variant,,ENST00000245907,;C3,downstream_gene_variant,,ENST00000596548,;C3,downstream_gene_variant,,ENST00000601008,;C3,downstream_gene_variant,,ENST00000602229,;C3,downstream_gene_variant,,ENST00000599668,;C3,downstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000599899,;	5133	25	38	SUCCESS
CLCNKB	1188	.	GRCh37	1	16383443	16383443	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	305	125	426	0	ENST00000375679.4:c.*32A>T			ENST00000375679	NM_000085.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS168.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCAGCTGA	NONE	.	.	.	.	.	ENSP00000364831	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000375679	Transcript	.	.	ENSG00000184908	2027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLCKB_HUMAN	CLCNKB	HGNC	.	.	UPI000040E261	SNV	CLCNKB,3_prime_UTR_variant,,ENST00000375679,;CLCNKB,3_prime_UTR_variant,,ENST00000375667,;CLCNKB,intron_variant,,ENST00000431772,;FAM131C,downstream_gene_variant,,ENST00000375662,;FAM131C,downstream_gene_variant,,ENST00000494078,;	2207	426	431	SUCCESS
LHX9	56956	.	GRCh37	1	197901381	197901382	+	downstream_gene_variant	3'Flank	INS	-	-	A	rs1174600293	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	23	10	9	0				ENST00000367387	NM_020204.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1393.1	.	INDELOCATOR|VARSCANI	.	TATTTGAAAAA	NONE	.	2108	.	.	.	ENSP00000356357	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367387	Transcript	.	.	ENSG00000143355	14222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LHX9_HUMAN	LHX9	HGNC	.	.	UPI00001B6453	insertion	LHX9,3_prime_UTR_variant,,ENST00000367390,;LHX9,3_prime_UTR_variant,,ENST00000561173,;LHX9,3_prime_UTR_variant,,ENST00000367391,;LHX9,3_prime_UTR_variant,,ENST00000337020,;LHX9,downstream_gene_variant,,ENST00000367387,;	.	9	33	SUCCESS
AJAP1	55966	.	GRCh37	1	4834600	4834600	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs767552030	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	26	0	ENST00000378190.3:c.*41G>A			ENST00000378190	NM_001042478.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGCCGTG	NONE	.	.	.	.	.	ENSP00000367433	.	5/6	.	.	.	.	.	.	.	.	rs767552030	5/6	PASS	ENST00000378191	Transcript	.	.	ENSG00000196581	30801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AJAP1_HUMAN	AJAP1	HGNC	.	.	UPI00000728B8	SNV	AJAP1,3_prime_UTR_variant,,ENST00000378191,;AJAP1,3_prime_UTR_variant,,ENST00000378190,;	1658	26	25	SUCCESS
FAM217B	63939	.	GRCh37	20	58521648	58521648	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	113	200	0	ENST00000358293.3:c.*1498A>T			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13484.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCAAATGA	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,downstream_gene_variant,,ENST00000469084,;	3065	200	263	SUCCESS
C22orf46	79640	.	GRCh37	22	42091053	42091053	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	28	113	0	ENST00000402966.1:c.*1071G>A			ENST00000402966	NM_001142964.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGCACTA	NONE	.	.	.	.	.	ENSP00000385467	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000402966	Transcript	.	.	ENSG00000184208	26294	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV046_HUMAN	C22orf46	HGNC	.	.	UPI00018962D9	SNV	C22orf46,3_prime_UTR_variant,,ENST00000402966,;NHP2L1,upstream_gene_variant,,ENST00000402458,;MEI1,upstream_gene_variant,,ENST00000300398,;MEI1,upstream_gene_variant,,ENST00000401548,;MEI1,upstream_gene_variant,,ENST00000540833,;MEI1,upstream_gene_variant,,ENST00000400107,;C22orf46,downstream_gene_variant,,ENST00000472110,;Z83840.1,non_coding_transcript_exon_variant,,ENST00000539984,;	1888	113	109	SUCCESS
STK39	27347	.	GRCh37	2	168811786	168811786	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	27	0	ENST00000355999.4:c.*220A>T			ENST00000355999	NM_013233.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42770.1	.	MUTECT|MUSE	.	TGTACTGTGGA	NONE	.	.	.	.	.	ENSP00000348278	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000355999	Transcript	.	.	ENSG00000198648	17717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STK39_HUMAN	STK39	HGNC	.	.	UPI000013D46D	SNV	STK39,3_prime_UTR_variant,,ENST00000355999,;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;	2564	27	16	SUCCESS
UBE2E3	10477	.	GRCh37	2	181927827	181927827	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	13	31	0	ENST00000392415.2:c.*212A>T			ENST00000392415	NM_001278555.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2282.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCTACTTGC	NONE	.	.	.	.	.	ENSP00000386788	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000410062	Transcript	.	.	ENSG00000170035	12479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UB2E3_HUMAN	UBE2E3	HGNC	R4GND1_HUMAN,R4GN77_HUMAN	.	UPI00000040F8	SNV	UBE2E3,3_prime_UTR_variant,,ENST00000602710,;UBE2E3,3_prime_UTR_variant,,ENST00000392415,;UBE2E3,3_prime_UTR_variant,,ENST00000410062,;UBE2E3,downstream_gene_variant,,ENST00000602303,;UBE2E3,downstream_gene_variant,,ENST00000602959,;UBE2E3,downstream_gene_variant,,ENST00000602479,;UBE2E3,downstream_gene_variant,,ENST00000602291,;UBE2E3,intron_variant,,ENST00000602837,;UBE2E3,intron_variant,,ENST00000602970,;UBE2E3,intron_variant,,ENST00000602762,;UBE2E3,downstream_gene_variant,,ENST00000602888,;	1229	31	32	SUCCESS
DDX60	55601	.	GRCh37	4	169138047	169138047	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1215318904	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	24	68	0	ENST00000393743.3:c.*37A>G			ENST00000393743	NM_017631.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34097.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTATGGAAT	NONE	.	.	.	.	.	ENSP00000377344	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000393743	Transcript	.	.	ENSG00000137628	25942	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX60_HUMAN	DDX60	HGNC	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN	.	UPI000020B6AB	SNV	DDX60,3_prime_UTR_variant,,ENST00000393743,;DDX60,downstream_gene_variant,,ENST00000511317,;	5468	68	80	SUCCESS
RANBP3L	202151	.	GRCh37	5	36249633	36249633	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	27	0	ENST00000296604.3:c.*123A>T			ENST00000296604	NM_145000.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54843.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCTTAAAC	NONE	.	.	.	.	.	ENSP00000421853	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000502994	Transcript	.	.	ENSG00000164188	26353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNB3L_HUMAN	RANBP3L	HGNC	.	.	UPI0001A5C4B2	SNV	RANBP3L,3_prime_UTR_variant,,ENST00000296604,;RANBP3L,3_prime_UTR_variant,,ENST00000502994,;	2080	27	33	SUCCESS
SOD2	6648	.	GRCh37	6	160103452	160103452	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	47	0	ENST00000538183.2:c.*73A>G			ENST00000538183	NM_000636.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5265.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTGTATTCT	NONE	.	.	.	.	.	ENSP00000446252	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538183	Transcript	.	.	ENSG00000112096	11180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SODM_HUMAN	SOD2	HGNC	Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN	.	UPI000006D275	SNV	SOD2,3_prime_UTR_variant,,ENST00000444946,;SOD2,3_prime_UTR_variant,,ENST00000538183,;SOD2,3_prime_UTR_variant,,ENST00000337404,;SOD2,intron_variant,,ENST00000367054,;SOD2,intron_variant,,ENST00000367055,;SOD2,intron_variant,,ENST00000546087,;SOD2,downstream_gene_variant,,ENST00000545162,;SOD2,downstream_gene_variant,,ENST00000535561,;SOD2,downstream_gene_variant,,ENST00000537657,;SOD2,downstream_gene_variant,,ENST00000401980,;SOD2,downstream_gene_variant,,ENST00000541573,;SOD2,downstream_gene_variant,,ENST00000540491,;SOD2,3_prime_UTR_variant,,ENST00000546260,;SOD2,downstream_gene_variant,,ENST00000535459,;	903	47	74	SUCCESS
ATP6V1G2	534	.	GRCh37	6	31515391	31515391	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	15	25	0				ENST00000303892	NM_138282.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4700.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCGCCTC	NONE	.	.	.	.	.	ENSP00000365318	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000376148	Transcript	.	.	ENSG00000204498	7800	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKBL1_HUMAN	NFKBIL1	HGNC	Q5STV6_HUMAN	.	UPI0000071DDF	SNV	NFKBIL1,5_prime_UTR_variant,,ENST00000376145,;NFKBIL1,5_prime_UTR_variant,,ENST00000376148,;ATP6V1G2,intron_variant,,ENST00000415099,;NFKBIL1,intron_variant,,ENST00000376146,;ATP6V1G2,upstream_gene_variant,,ENST00000303892,;ATP6V1G2,upstream_gene_variant,,ENST00000483251,;ATP6V1G2,upstream_gene_variant,,ENST00000376151,;DDX39B-AS1,downstream_gene_variant,,ENST00000420520,;DDX39B-AS1,downstream_gene_variant,,ENST00000416684,;ATP6V1G2,upstream_gene_variant,,ENST00000483170,;ATP6V1G2-DDX39B,upstream_gene_variant,,ENST00000475917,;ATP6V1G2,upstream_gene_variant,,ENST00000481998,;ATP6V1G2-DDX39B,upstream_gene_variant,,ENST00000376185,;NFKBIL1,upstream_gene_variant,,ENST00000473655,;ATP6V1G2-DDX39B,upstream_gene_variant,,ENST00000480131,;NFKBIL1,upstream_gene_variant,,ENST00000496233,;	34	25	35	SUCCESS
FAM217A	222826	.	GRCh37	6	4068880	4068880	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	30	0	ENST00000274673.3:c.*50C>A			ENST00000274673	NM_173563.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4489.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTGGGCTT	NONE	.	.	.	.	.	ENSP00000274673	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000274673	Transcript	.	.	ENSG00000145975	21362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F217A_HUMAN	FAM217A	HGNC	C9J6U0_HUMAN,C9J5H0_HUMAN	.	UPI0000160AA7	SNV	FAM217A,3_prime_UTR_variant,,ENST00000274673,;FAM217A,downstream_gene_variant,,ENST00000498677,;FAM217A,downstream_gene_variant,,ENST00000492651,;FAM217A,non_coding_transcript_exon_variant,,ENST00000380188,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,downstream_gene_variant,,ENST00000461612,;FAM217A,downstream_gene_variant,,ENST00000478714,;PRPF4B,downstream_gene_variant,,ENST00000463634,;PRPF4B,downstream_gene_variant,,ENST00000481109,;PRPF4B,downstream_gene_variant,,ENST00000480058,;	1981	30	51	SUCCESS
CREB5	9586	.	GRCh37	7	28858926	28858926	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs748936901	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	18	48	0	ENST00000357727.2:c.*30G>C			ENST00000357727	NM_182898.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5417.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAGAGCTG	NONE	.	.	.	.	.	ENSP00000350359	.	11/11	.	.	.	.	.	.	.	.	rs748936901	11/11	PASS	ENST00000357727	Transcript	.	.	ENSG00000146592	16844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CREB5_HUMAN	CREB5	HGNC	H9KVC5_HUMAN,C9JN33_HUMAN	.	UPI0000457534	SNV	CREB5,3_prime_UTR_variant,,ENST00000409603,;CREB5,3_prime_UTR_variant,,ENST00000396298,;CREB5,3_prime_UTR_variant,,ENST00000357727,;CREB5,3_prime_UTR_variant,,ENST00000498316,;CREB5,3_prime_UTR_variant,,ENST00000396299,;CREB5,3_prime_UTR_variant,,ENST00000396300,;	1947	48	66	SUCCESS
URGCP	55665	.	GRCh37	7	43916187	43916187	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	36	0	ENST00000453200.1:c.*79G>A			ENST00000453200				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47578.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCACAGC	NONE	.	.	.	.	.	ENSP00000396918	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000453200	Transcript	.	.	ENSG00000106608	30890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	URGCP_HUMAN	URGCP	HGNC	C9JKA8_HUMAN,C9J0W2_HUMAN	.	UPI000020EE9D	SNV	URGCP,3_prime_UTR_variant,,ENST00000447717,;URGCP,3_prime_UTR_variant,,ENST00000453200,;URGCP,3_prime_UTR_variant,,ENST00000336086,;URGCP,3_prime_UTR_variant,,ENST00000443736,;URGCP,3_prime_UTR_variant,,ENST00000223341,;URGCP,3_prime_UTR_variant,,ENST00000402306,;URGCP-MRPS24,intron_variant,,ENST00000603700,;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000426198,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000474376,;	3369	36	45	SUCCESS
GPR124	0	.	GRCh37	8	37700132	37700132	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	17	0	ENST00000412232.2:c.*259G>T			ENST00000412232	NM_032777.9			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6097.2	.	MUTECT|MUSE	.	GGGAAGGCCTC	NONE	.	.	.	.	.	ENSP00000406367	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000412232	Transcript	.	.	ENSG00000020181	17849	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GP124_HUMAN	GPR124	HGNC	.	.	UPI00004AE50D	SNV	GPR124,3_prime_UTR_variant,,ENST00000412232,;GPR124,3_prime_UTR_variant,,ENST00000315215,;BRF2,downstream_gene_variant,,ENST00000521170,;BRF2,downstream_gene_variant,,ENST00000220659,;BRF2,downstream_gene_variant,,ENST00000520601,;BRF2,downstream_gene_variant,,ENST00000522539,;	4289	17	14	SUCCESS
HTR2C	3358	.	GRCh37	X	114142179	114142179	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	12	24	0	ENST00000276198.1:c.*201T>A			ENST00000276198	NM_000868.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14564.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATAGGTGGAGA	NONE	.	.	.	.	.	ENSP00000276198	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000276198	Transcript	.	.	ENSG00000147246	5295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5HT2C_HUMAN	HTR2C	HGNC	B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN	.	UPI000000126F	SNV	HTR2C,3_prime_UTR_variant,,ENST00000371950,;HTR2C,3_prime_UTR_variant,,ENST00000276198,;HTR2C,3_prime_UTR_variant,,ENST00000371951,;	2306	24	31	SUCCESS
ARHGAP4	393	.	GRCh37	X	153191699	153191699	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs782633862	.	TCGA-DD-AACT-01	TCGA-DD-AACT-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	5	94	0				ENST00000350060	NM_001666.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55540.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCACGCGGCCG	NONE	byFrequency	.	.	.	.	ENSP00000359045	.	1/23	.	.	.	.	.	.	.	.	rs782633862	1/23	PASS	ENST00000370028	Transcript	.	.	ENSG00000089820	674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RHG04_HUMAN	ARHGAP4	HGNC	Q6PJ34_HUMAN,C9JLA8_HUMAN,C9J5M2_HUMAN	.	UPI000019275E	SNV	ARHGAP4,5_prime_UTR_variant,,ENST00000393721,;ARHGAP4,5_prime_UTR_variant,,ENST00000370028,;ARHGAP4,intron_variant,,ENST00000442262,;ARHGAP4,intron_variant,,ENST00000422091,;ARHGAP4,intron_variant,,ENST00000461052,;ARHGAP4,upstream_gene_variant,,ENST00000537206,;ARHGAP4,upstream_gene_variant,,ENST00000350060,;NAA10,downstream_gene_variant,,ENST00000432089,;NAA10,downstream_gene_variant,,ENST00000370015,;NAA10,downstream_gene_variant,,ENST00000370009,;ARHGAP4,upstream_gene_variant,,ENST00000488269,;ARHGAP4,upstream_gene_variant,,ENST00000370016,;ARHGAP4,upstream_gene_variant,,ENST00000418750,;NAA10,downstream_gene_variant,,ENST00000393712,;NAA10,downstream_gene_variant,,ENST00000464845,;NAA10,downstream_gene_variant,,ENST00000370011,;ARHGAP4,intron_variant,,ENST00000470979,;ARHGAP4,5_prime_UTR_variant,,ENST00000404127,;ARHGAP4,intron_variant,,ENST00000494813,;ARHGAP4,upstream_gene_variant,,ENST00000460782,;ARHGAP4,upstream_gene_variant,,ENST00000494302,;ARHGAP4,upstream_gene_variant,,ENST00000470209,;NAA10,downstream_gene_variant,,ENST00000484950,;NAA10,downstream_gene_variant,,ENST00000467451,;NAA10,downstream_gene_variant,,ENST00000460996,;ARHGAP4,upstream_gene_variant,,ENST00000420383,;NAA10,downstream_gene_variant,,ENST00000482485,;NAA10,downstream_gene_variant,,ENST00000466877,;	16	94	48	SUCCESS
DLG5	9231	.	GRCh37	10	79552043	79552043	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	15	0	ENST00000372391.2:c.*155A>T			ENST00000372391	NM_004747.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7353.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCTCTGTC	NONE	.	.	.	.	.	ENSP00000361467	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000372391	Transcript	.	.	ENSG00000151208	2904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DLG5_HUMAN	DLG5	HGNC	.	.	UPI0000470041	SNV	DLG5,3_prime_UTR_variant,,ENST00000424842,;DLG5,3_prime_UTR_variant,,ENST00000372388,;DLG5,3_prime_UTR_variant,,ENST00000372391,;RP13-39P12.3,non_coding_transcript_exon_variant,,ENST00000434097,;RP13-39P12.3,downstream_gene_variant,,ENST00000601701,;DLG5,downstream_gene_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,downstream_gene_variant,,ENST00000468332,;	5921	15	14	SUCCESS
SFTPA2	729238	.	GRCh37	10	81316920	81316920	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs767792161	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	19	130	0	ENST00000372325.2:c.*45A>C			ENST00000372325	NM_001098668.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41540.1	.	MUTECT|MUSE	.	GAAACTGAAGG	NONE	.	.	.	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	rs767792161	6/6	PASS	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,3_prime_UTR_variant,,ENST00000372325,;SFTPA2,3_prime_UTR_variant,,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	877	130	118	SUCCESS
SFTPA2	729238	.	GRCh37	10	81316946	81316946	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	115	31	160	0	ENST00000372325.2:c.*19G>C			ENST00000372325	NM_001098668.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41540.1	.	RADIA|MUTECT|MUSE	.	CCTGTCCCATG	NONE	.	.	.	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,3_prime_UTR_variant,,ENST00000372325,;SFTPA2,3_prime_UTR_variant,,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	851	160	146	SUCCESS
ZNF195	7748	.	GRCh37	11	3380312	3380312	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs376431416	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	16	37	0	ENST00000399602.4:c.*36G>C			ENST00000399602	NM_001130520.2			0	T:0	.	.	.	.	G	.	protein_coding	YES	CCDS44522.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAACGGCTT	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000382511	.	6/6	.	.	.	.	.	.	.	.	rs376431416	6/6	PASS	ENST00000399602	Transcript	.	.	ENSG00000005801	12986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN195_HUMAN	ZNF195	HGNC	.	.	UPI0000D6258D	SNV	ZNF195,3_prime_UTR_variant,,ENST00000429541,;ZNF195,3_prime_UTR_variant,,ENST00000354599,;ZNF195,3_prime_UTR_variant,,ENST00000399602,;ZNF195,3_prime_UTR_variant,,ENST00000343338,;ZNF195,3_prime_UTR_variant,,ENST00000005082,;ZNF195,intron_variant,,ENST00000528796,;ZNF195,downstream_gene_variant,,ENST00000528410,;ZNF195,downstream_gene_variant,,ENST00000526601,;ZNF195,downstream_gene_variant,,ENST00000438262,;ZNF195,downstream_gene_variant,,ENST00000529678,;ZNF195,downstream_gene_variant,,ENST00000534569,;ZNF195,downstream_gene_variant,,ENST00000533036,;ZNF195,downstream_gene_variant,,ENST00000427810,;ZNF195,downstream_gene_variant,,ENST00000528636,;ZNF195,downstream_gene_variant,,ENST00000524857,;ZNF195,downstream_gene_variant,,ENST00000330692,;ZNF195,downstream_gene_variant,,ENST00000530643,;ZNF195,downstream_gene_variant,,ENST00000526540,;ZNF195,downstream_gene_variant,,ENST00000529228,;ZNF195,downstream_gene_variant,,ENST00000526598,;ZNF195,downstream_gene_variant,,ENST00000528218,;ZNF195,downstream_gene_variant,,ENST00000529789,;ZNF195,downstream_gene_variant,,ENST00000525313,;	2053	37	53	SUCCESS
MS4A6A	64231	.	GRCh37	11	59939503	59939504	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs967626495	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	19	0	ENST00000530839.1:c.*127dup			ENST00000530839	NM_152852.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58134.1	.	INDELOCATOR|VARSCANI	.	TAATGGTTTTT	NONE	.	466	.	.	.	ENSP00000403212	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412309	Transcript	.	.	ENSG00000110077	13375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MS4A6A	HGNC	F8W9K1_HUMAN,E9PNG6_HUMAN,E9PMN8_HUMAN,E9PL03_HUMAN	.	UPI0001F77AB4	insertion	MS4A6A,3_prime_UTR_variant,,ENST00000323961,;MS4A6A,3_prime_UTR_variant,,ENST00000528851,;MS4A6A,3_prime_UTR_variant,,ENST00000530839,;MS4A6A,3_prime_UTR_variant,,ENST00000420732,;MS4A6A,3_prime_UTR_variant,,ENST00000533989,;MS4A6A,downstream_gene_variant,,ENST00000529054,;MS4A6A,downstream_gene_variant,,ENST00000533023,;MS4A6A,downstream_gene_variant,,ENST00000412309,;MS4A6A,downstream_gene_variant,,ENST00000426738,;MS4A6A,downstream_gene_variant,,ENST00000529906,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000527254,;	.	19	24	SUCCESS
NPAP1	23742	.	GRCh37	15	24926218	24926218	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	17	98	0	ENST00000329468.2:c.*1733C>G			ENST00000329468	NM_018958.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCCTGGTG	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	5678	98	98	SUCCESS
MESP2	145873	.	GRCh37	15	90321633	90321633	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	87	0	ENST00000341735.3:c.*68A>G			ENST00000341735	NM_001039958.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42078.1	.	MUTECT|MUSE	.	TGTTAATTAGT	NONE	.	.	.	.	.	ENSP00000342392	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341735	Transcript	1	.	ENSG00000188095	29659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MESP2_HUMAN	MESP2	HGNC	.	.	UPI00006E232B	SNV	MESP2,3_prime_UTR_variant,,ENST00000560219,;MESP2,3_prime_UTR_variant,,ENST00000341735,;MESP2,non_coding_transcript_exon_variant,,ENST00000558723,;	1262	87	105	SUCCESS
SDR42E1	93517	.	GRCh37	16	82032540	82032540	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	14	0	ENST00000328945.5:c.*176G>C			ENST00000328945	NM_145168.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42205.1	.	RADIA|MUTECT|MUSE	.	TCATTCCCATC	NONE	.	.	.	.	.	ENSP00000332407	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328945	Transcript	.	.	ENSG00000184860	29834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	D42E1_HUMAN	SDR42E1	HGNC	.	.	UPI000003F552	SNV	SDR42E1,3_prime_UTR_variant,,ENST00000328945,;SDR42E1,downstream_gene_variant,,ENST00000532128,;SDR42E1,downstream_gene_variant,,ENST00000534209,;	1486	14	12	SUCCESS
RPS15	6209	.	GRCh37	19	1440464	1440464	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	40	135	0	ENST00000592588.2:c.*402G>A			ENST00000592588				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12067.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAATGGCTCAG	NONE	.	.	.	.	.	ENSP00000467676	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000586686	Transcript	.	.	ENSG00000115268	10388	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RS15_HUMAN	RPS15	HGNC	S4R456_HUMAN,K7EM56_HUMAN,K7EPN6_HUMAN	.	UPI0000000EAF	SNV	RPS15,3_prime_UTR_variant,,ENST00000591804,;RPS15,3_prime_UTR_variant,,ENST00000593052,;RPS15,3_prime_UTR_variant,,ENST00000233609,;RPS15,3_prime_UTR_variant,,ENST00000586686,;RPS15,3_prime_UTR_variant,,ENST00000589656,;RPS15,3_prime_UTR_variant,,ENST00000591032,;RPS15,3_prime_UTR_variant,,ENST00000586096,;RPS15,3_prime_UTR_variant,,ENST00000585665,;DAZAP1,downstream_gene_variant,,ENST00000233078,;AC027307.3,upstream_gene_variant,,ENST00000594262,;DAZAP1,downstream_gene_variant,,ENST00000336761,;RPS15,downstream_gene_variant,,ENST00000586656,;RPS15,3_prime_UTR_variant,,ENST00000592623,;RPS15,3_prime_UTR_variant,,ENST00000592588,;RPS15,non_coding_transcript_exon_variant,,ENST00000592700,;DAZAP1,downstream_gene_variant,,ENST00000585485,;DAZAP1,downstream_gene_variant,,ENST00000589874,;DAZAP1,downstream_gene_variant,,ENST00000589484,;	480	135	90	SUCCESS
POTEH	23784	.	GRCh37	22	16256679	16256679	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	129	37	181	0	ENST00000343518.6:c.*2-2A>G			ENST00000343518	NM_001136213.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46658.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTAAGTA	NONE	.	.	.	.	.	ENSP00000340610	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	HIGH	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,splice_acceptor_variant,,ENST00000343518,;POTEH,splice_acceptor_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;LA16c-3G11.7,upstream_gene_variant,,ENST00000339523,;	.	181	167	SUCCESS
PHF5A	84844	.	GRCh37	22	41856386	41856386	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	23	42	0	ENST00000216252.3:c.*16T>G			ENST00000216252	NM_032758.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14016.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAAGGGGC	NONE	.	.	.	.	.	ENSP00000216252	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000216252	Transcript	.	.	ENSG00000100410	18000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF5A_HUMAN	PHF5A	HGNC	.	.	UPI000000110B	SNV	PHF5A,3_prime_UTR_variant,,ENST00000216252,;PHF5A,downstream_gene_variant,,ENST00000491254,;PHF5A,non_coding_transcript_exon_variant,,ENST00000459687,;	421	42	63	SUCCESS
CYP2D7P	0	.	GRCh37	22	42540443	42540443	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1431157392	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	54	100	0				ENST00000435101				0	.	.	.	.	.	A	.	sense_intronic	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGGGCACC	NONE	.	4505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428786	Transcript	.	.	ENSG00000232710	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP4-669P10.16	Clone_based_vega_gene	.	.	.	SNV	RP4-669P10.16,upstream_gene_variant,,ENST00000428786,;CYP2D7P,upstream_gene_variant,,ENST00000424775,;CYP2D7P,non_coding_transcript_exon_variant,,ENST00000435688,;CYP2D7P,upstream_gene_variant,,ENST00000435101,;CYP2D7P,missense_variant,p.Pro8Leu,ENST00000433992,;CYP2D7P,missense_variant,p.Pro8Leu,ENST00000358097,;	.	100	102	SUCCESS
RAB6C	84084	.	GRCh37	2	130738924	130738924	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1386179556	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	118	206	0	ENST00000410061.2:c.*471C>T			ENST00000410061	NM_032144.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACGGTAG	NONE	.	.	.	.	.	ENSP00000387307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000410061	Transcript	.	.	ENSG00000222014	16525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB6C_HUMAN	RAB6C	HGNC	.	.	UPI00001AF8C6	SNV	RAB6C,3_prime_UTR_variant,,ENST00000410061,;RAB6C-AS1,upstream_gene_variant,,ENST00000412425,;	1690	206	230	SUCCESS
SDAD1	55153	.	GRCh37	4	76871659	76871659	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1412666929	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	37	0	ENST00000356260.5:c.*244T>C			ENST00000356260	NM_018115.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3573.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAATACATAC	NONE	.	.	.	.	.	ENSP00000348596	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000356260	Transcript	.	.	ENSG00000198301	25537	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDA1_HUMAN	SDAD1	HGNC	.	.	UPI000020B02A	SNV	SDAD1,3_prime_UTR_variant,,ENST00000395711,;SDAD1,3_prime_UTR_variant,,ENST00000356260,;AC110615.1,upstream_gene_variant,,ENST00000599764,;SDAD1,intron_variant,,ENST00000502543,;SDAD1,3_prime_UTR_variant,,ENST00000395710,;	2427	37	15	SUCCESS
VGLL2	245806	.	GRCh37	6	117593743	117593743	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	20	33	0	ENST00000326274.5:c.*86G>A			ENST00000326274	NM_182645.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5115.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGACATG	NONE	.	.	.	.	.	ENSP00000320957	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326274	Transcript	.	.	ENSG00000170162	20232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLL2_HUMAN	VGLL2	HGNC	.	.	UPI000006FF57	SNV	VGLL2,3_prime_UTR_variant,,ENST00000352536,;VGLL2,3_prime_UTR_variant,,ENST00000326274,;	1230	33	32	SUCCESS
PFDN6	10471	.	GRCh37	6	33261535	33261535	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	26	90	0				ENST00000374606	NM_001185181.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4774.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCCAGAA	NONE	.	.	.	.	.	ENSP00000420211	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000497454	Transcript	.	.	ENSG00000237441	9769	.	.	MODIFIER	13/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,3_prime_UTR_variant,,ENST00000444031,;RGL2,intron_variant,,ENST00000497454,;PFDN6,intron_variant,,ENST00000463584,;RGL2,downstream_gene_variant,,ENST00000425946,;WDR46,upstream_gene_variant,,ENST00000444176,;WDR46,upstream_gene_variant,,ENST00000374617,;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374607,;PFDN6,downstream_gene_variant,,ENST00000374610,;PFDN6,downstream_gene_variant,,ENST00000374606,;RGL2,intron_variant,,ENST00000471319,;RGL2,intron_variant,,ENST00000437840,;RGL2,intron_variant,,ENST00000491168,;WDR46,upstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000485077,;WDR46,upstream_gene_variant,,ENST00000468157,;RGL2,intron_variant,,ENST00000476616,;RGL2,intron_variant,,ENST00000483151,;WDR46,upstream_gene_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000478610,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;RGL2,downstream_gene_variant,,ENST00000494550,;PFDN6,downstream_gene_variant,,ENST00000491382,;	.	90	72	SUCCESS
PDIA4	9601	.	GRCh37	7	148700809	148700809	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1166218194	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	17	38	0	ENST00000286091.4:c.*77G>A			ENST00000286091	NM_004911.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5893.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCCGGCCT	NONE	.	.	.	.	.	ENSP00000286091	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000286091	Transcript	.	.	ENSG00000155660	30167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIA4_HUMAN	PDIA4	HGNC	.	.	UPI000004062C	SNV	PDIA4,3_prime_UTR_variant,,ENST00000286091,;PDIA4,downstream_gene_variant,,ENST00000466592,;	2248	38	40	SUCCESS
YAE1D1	0	.	GRCh37	7	39612442	39612442	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	14	0	ENST00000223273.2:c.*137T>G			ENST00000223273	NM_020192.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5459.1	.	MUTECT|MUSE	.	TATTGTCTTCA	NONE	.	.	.	.	.	ENSP00000223273	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000223273	Transcript	.	.	ENSG00000241127	24857	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YAED1_HUMAN	YAE1D1	HGNC	.	.	UPI0000074023	SNV	YAE1D1,3_prime_UTR_variant,,ENST00000223273,;YAE1D1,intron_variant,,ENST00000432096,;YAE1D1,downstream_gene_variant,,ENST00000448268,;YAE1D1,downstream_gene_variant,,ENST00000469737,;YAE1D1,downstream_gene_variant,,ENST00000474392,;YAE1D1,downstream_gene_variant,,ENST00000485025,;AC011290.5,upstream_gene_variant,,ENST00000438427,;	861	14	17	SUCCESS
POM121L12	285877	.	GRCh37	7	53104494	53104494	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	56	0	ENST00000408890.4:c.*239T>G			ENST00000408890	NM_182595.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43584.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCTGCCCT	NONE	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,3_prime_UTR_variant,,ENST00000408890,;	1146	56	63	SUCCESS
TUSC3	7991	.	GRCh37	8	15397737	15397737	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-DD-AACU-01	TCGA-DD-AACU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	9	16	0				ENST00000503731	NM_006765.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5994.1	.	MUTECT|MUSE	.	GCCTTTCCAGG	NONE	.	55	.	.	.	ENSP00000424544	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000503731	Transcript	1	.	ENSG00000104723	30242	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TUSC3_HUMAN	TUSC3	HGNC	Q6Q320_HUMAN	.	UPI000012FC21	SNV	TUSC3,5_prime_UTR_variant,,ENST00000382020,;TUSC3,upstream_gene_variant,,ENST00000506802,;TUSC3,upstream_gene_variant,,ENST00000509380,;TUSC3,upstream_gene_variant,,ENST00000503731,;TUSC3,intron_variant,,ENST00000503191,;TUSC3,5_prime_UTR_variant,,ENST00000515859,;TUSC3,upstream_gene_variant,,ENST00000510836,;	.	16	11	SUCCESS
MAB21L1	4081	.	GRCh37	13	36049067	36049067	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	36	0	ENST00000379919.4:c.*129T>C			ENST00000379919	NM_005584.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9353.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTATTATT	NONE	.	.	.	.	.	ENSP00000369251	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379919	Transcript	.	.	ENSG00000180660	6757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MB211_HUMAN	MAB21L1	HGNC	F1T0A2_HUMAN	.	UPI0000022CD2	SNV	MAB21L1,3_prime_UTR_variant,,ENST00000379919,;NBEA,intron_variant,,ENST00000400445,;NBEA,intron_variant,,ENST00000540320,;NBEA,intron_variant,,ENST00000310336,;NBEA,intron_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000537702,;	1766	36	35	SUCCESS
LRP10	26020	.	GRCh37	14	23346816	23346816	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	11	0	ENST00000359591.4:c.*80C>A			ENST00000359591	NM_014045.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9578.1	.	RADIA|MUSE	.	TCAGCCTCCCC	NONE	.	.	.	.	.	ENSP00000352601	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000359591	Transcript	.	.	ENSG00000197324	14553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP10_HUMAN	LRP10	HGNC	Q6IAK3_HUMAN,Q66K21_HUMAN,Q5I0F9_HUMAN	.	UPI000000CC06	SNV	LRP10,3_prime_UTR_variant,,ENST00000359591,;LRP10,intron_variant,,ENST00000551466,;LRP10,intron_variant,,ENST00000546834,;LRP10,intron_variant,,ENST00000470660,;LRP10,downstream_gene_variant,,ENST00000553002,;	2913	11	13	SUCCESS
FAN1	22909	.	GRCh37	15	31234997	31234997	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	33	36	0	ENST00000362065.4:c.*1232T>C			ENST00000362065	NM_014967.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32186.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTACTCTTGG	NONE	.	.	.	.	.	ENSP00000354497	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000362065	Transcript	1	.	ENSG00000198690	29170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAN1_HUMAN	FAN1	HGNC	.	.	UPI000006D713	SNV	FAN1,3_prime_UTR_variant,,ENST00000362065,;MTMR10,intron_variant,,ENST00000425768,;MTMR10,intron_variant,,ENST00000435680,;MTMR10,intron_variant,,ENST00000314404,;MTMR10,downstream_gene_variant,,ENST00000566981,;MTMR10,downstream_gene_variant,,ENST00000563714,;FAN1,3_prime_UTR_variant,,ENST00000565280,;MTMR10,3_prime_UTR_variant,,ENST00000568604,;MTMR10,intron_variant,,ENST00000568547,;MTMR10,intron_variant,,ENST00000567567,;MTMR10,intron_variant,,ENST00000566338,;MTMR10,downstream_gene_variant,,ENST00000565728,;	4577	36	64	SUCCESS
TPM4	7171	.	GRCh37	19	16212299	16212299	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	75	104	0	ENST00000300933.4:c.*143T>C			ENST00000300933	NM_003290.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTGTATC	NONE	.	.	.	.	.	ENSP00000439135	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,3_prime_UTR_variant,,ENST00000538887,;TPM4,3_prime_UTR_variant,,ENST00000344824,;TPM4,3_prime_UTR_variant,,ENST00000300933,;CTD-2231E14.5,downstream_gene_variant,,ENST00000587693,;TPM4,non_coding_transcript_exon_variant,,ENST00000591645,;TPM4,non_coding_transcript_exon_variant,,ENST00000591226,;TPM4,intron_variant,,ENST00000588032,;	1085	104	146	SUCCESS
SERTAD1	29950	.	GRCh37	19	40928590	40928590	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs565488211	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	7	10	0	ENST00000357949.4:c.*153C>G			ENST00000357949	NM_013376.3			0	.	A:0	.	A:0	.	C	.	protein_coding	YES	CCDS12557.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGACGGATGT	NONE	by1000G	.	.	A:0.001	.	ENSP00000350633	A:0	2/2	.	.	.	.	.	.	.	.	rs565488211	2/2	PASS	ENST00000357949	Transcript	.	A:0.0002	ENSG00000197019	17932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	SRTD1_HUMAN	SERTAD1	HGNC	Q53GC0_HUMAN	.	UPI000006F397	SNV	SERTAD1,3_prime_UTR_variant,,ENST00000357949,;	1023	10	60	SUCCESS
C1orf159	54991	.	GRCh37	1	1018039	1018039	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	17	0	ENST00000379339.1:c.*234G>T			ENST00000379339				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GAGGTCTCATG	NONE	.	.	.	.	.	ENSP00000400736	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000421241	Transcript	.	.	ENSG00000131591	26062	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CA159_HUMAN	C1orf159	HGNC	J3QRL0_HUMAN,J3KSJ6_HUMAN,B2REC4_HUMAN	.	UPI0000049DAC	SNV	C1orf159,3_prime_UTR_variant,,ENST00000379339,;C1orf159,3_prime_UTR_variant,,ENST00000294576,;C1orf159,3_prime_UTR_variant,,ENST00000448924,;C1orf159,3_prime_UTR_variant,,ENST00000379320,;C1orf159,3_prime_UTR_variant,,ENST00000421241,;C1orf159,downstream_gene_variant,,ENST00000379319,;C1orf159,downstream_gene_variant,,ENST00000442117,;C1orf159,downstream_gene_variant,,ENST00000475119,;C1orf159,downstream_gene_variant,,ENST00000462097,;C1orf159,downstream_gene_variant,,ENST00000434641,;C1orf159,downstream_gene_variant,,ENST00000437760,;C1orf159,non_coding_transcript_exon_variant,,ENST00000464905,;C1orf159,downstream_gene_variant,,ENST00000482816,;C1orf159,3_prime_UTR_variant,,ENST00000467751,;C1orf159,3_prime_UTR_variant,,ENST00000477196,;C1orf159,3_prime_UTR_variant,,ENST00000379325,;C1orf159,non_coding_transcript_exon_variant,,ENST00000465822,;C1orf159,non_coding_transcript_exon_variant,,ENST00000487177,;C1orf159,downstream_gene_variant,,ENST00000473600,;	1005	17	21	SUCCESS
RAB4A	5867	.	GRCh37	1	229441099	229441099	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	163	134	217	0	ENST00000366690.4:c.*1559A>G			ENST00000366690	NM_004578.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31050.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCATGTCT	NONE	.	.	.	.	.	ENSP00000355651	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000366690	Transcript	.	.	ENSG00000168118	9781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB4A_HUMAN	RAB4A	HGNC	.	.	UPI0000161F4E	SNV	RAB4A,3_prime_UTR_variant,,ENST00000366690,;SPHAR,3_prime_UTR_variant,,ENST00000366688,;RAB4A,downstream_gene_variant,,ENST00000473894,;	2424	217	297	SUCCESS
C2orf88	84281	.	GRCh37	2	191067984	191067985	+	3_prime_UTR_variant	3'UTR	DEL	CA	CA	-	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	195	104	182	0	ENST00000340623.4:c.*3112_*3113del			ENST00000340623	NM_001042519.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS42792.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTAATCACAATG	NONE	.	.	.	.	.	ENSP00000345107	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000340623	Transcript	.	.	ENSG00000187699	28191	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SMAKA_HUMAN	C2orf88	HGNC	H7BZ15_HUMAN,C9JS57_HUMAN	.	UPI000013D122	deletion	C2orf88,3_prime_UTR_variant,,ENST00000340623,;HIBCH,intron_variant,,ENST00000399855,;HIBCH,downstream_gene_variant,,ENST00000359678,;C2orf88,downstream_gene_variant,,ENST00000409870,;HIBCH,downstream_gene_variant,,ENST00000392332,;C2orf88,downstream_gene_variant,,ENST00000443551,;C2orf88,downstream_gene_variant,,ENST00000450357,;C2orf88,downstream_gene_variant,,ENST00000409545,;HIBCH,downstream_gene_variant,,ENST00000410045,;C2orf88,downstream_gene_variant,,ENST00000396974,;HIBCH,downstream_gene_variant,,ENST00000486981,;C2orf88,downstream_gene_variant,,ENST00000490033,;	3809-3810	182	299	SUCCESS
PREB	10113	.	GRCh37	2	27353725	27353725	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	23	0	ENST00000260643.2:c.*557T>C			ENST00000260643	NM_013388.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1738.1	.	MUTECT|MUSE	.	AGACTACCTAG	NONE	.	.	.	.	.	ENSP00000260643	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000260643	Transcript	.	.	ENSG00000138073	9356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PREB_HUMAN	PREB	HGNC	Q05DB2_HUMAN	.	UPI0000073C9D	SNV	PREB,3_prime_UTR_variant,,ENST00000456259,;PREB,3_prime_UTR_variant,,ENST00000406567,;PREB,3_prime_UTR_variant,,ENST00000260643,;ABHD1,downstream_gene_variant,,ENST00000416071,;ABHD1,downstream_gene_variant,,ENST00000316470,;PREB,downstream_gene_variant,,ENST00000430533,;PREB,downstream_gene_variant,,ENST00000416802,;PREB,3_prime_UTR_variant,,ENST00000444452,;PREB,non_coding_transcript_exon_variant,,ENST00000468045,;ABHD1,downstream_gene_variant,,ENST00000448950,;ABHD1,downstream_gene_variant,,ENST00000496739,;ABHD1,downstream_gene_variant,,ENST00000489120,;PREB,downstream_gene_variant,,ENST00000474802,;ABHD1,downstream_gene_variant,,ENST00000420647,;PREB,downstream_gene_variant,,ENST00000441451,;	2065	24	21	SUCCESS
CDV3	55573	.	GRCh37	3	133307028	133307028	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1161193204	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	50	96	0	ENST00000264993.3:c.*138A>G			ENST00000264993	NM_001134422.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTATGGAA	NONE	.	.	.	.	.	ENSP00000264993	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264993	Transcript	.	.	ENSG00000091527	26928	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDV3_HUMAN	CDV3	HGNC	D6R9V8_HUMAN,D6R973_HUMAN	.	UPI0000072568	SNV	CDV3,3_prime_UTR_variant,,ENST00000420115,;CDV3,3_prime_UTR_variant,,ENST00000264993,;CDV3,intron_variant,,ENST00000515421,;CDV3,downstream_gene_variant,,ENST00000511392,;CDV3,downstream_gene_variant,,ENST00000431519,;CDV3,downstream_gene_variant,,ENST00000507408,;CDV3,downstream_gene_variant,,ENST00000508481,;CDV3,downstream_gene_variant,,ENST00000503932,;CDV3,downstream_gene_variant,,ENST00000504867,;	1230	96	133	SUCCESS
HS3ST1	9957	.	GRCh37	4	11400565	11400565	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	12	0	ENST00000002596.5:c.*141A>G			ENST00000002596	NM_005114.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3408.1	.	RADIA|MUTECT|MUSE	.	GCAATTGTGAA	NONE	.	.	.	.	.	ENSP00000002596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000002596	Transcript	.	.	ENSG00000002587	5194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,3_prime_UTR_variant,,ENST00000002596,;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	2240	12	13	SUCCESS
ZFP42	132625	.	GRCh37	4	188925129	188925129	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	170	247	0	ENST00000326866.4:c.*235T>C			ENST00000326866	NM_174900.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3849.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACTTTGTGT	NONE	.	.	.	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,3_prime_UTR_variant,,ENST00000326866,;ZFP42,3_prime_UTR_variant,,ENST00000509524,;	1576	247	184	SUCCESS
TMEM175	84286	.	GRCh37	4	952396	952420	+	3_prime_UTR_variant	3'UTR	DEL	TGGTTTTATTTTCATTGTGAAATAT	TGGTTTTATTTTCATTGTGAAATAT	ATAC	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	TGGTTTTATTTTCATTGTGAAATAT	TGGTTTTATTTTCATTGTGAAATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	27	0	ENST00000264771.4:c.*112_*136delinsATAC			ENST00000264771	NM_032326.2			0	.	.	.	.	.	ATAC	.	protein_coding	YES	CCDS3341.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTGGCCTGGTTTTATTTTCATTGTGAAATATCATGC	NONE	.	.	.	.	.	ENSP00000264771	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000264771	Transcript	.	.	ENSG00000127419	28709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM175_HUMAN	TMEM175	HGNC	E7ETE6_HUMAN,D6RIZ2_HUMAN,D6RBE5_HUMAN,D3DVN5_HUMAN	.	UPI000006D921	substitution	TMEM175,3_prime_UTR_variant,,ENST00000264771,;TMEM175,downstream_gene_variant,,ENST00000510493,;DGKQ,downstream_gene_variant,,ENST00000515182,;TMEM175,downstream_gene_variant,,ENST00000515492,;DGKQ,downstream_gene_variant,,ENST00000273814,;TMEM175,downstream_gene_variant,,ENST00000509508,;TMEM175,downstream_gene_variant,,ENST00000508204,;TMEM175,downstream_gene_variant,,ENST00000515740,;DGKQ,downstream_gene_variant,,ENST00000509465,;DGKQ,downstream_gene_variant,,ENST00000502309,;TMEM175,3_prime_UTR_variant,,ENST00000513952,;TMEM175,non_coding_transcript_exon_variant,,ENST00000438836,;TMEM175,downstream_gene_variant,,ENST00000506669,;TMEM175,downstream_gene_variant,,ENST00000515876,;TMEM175,downstream_gene_variant,,ENST00000452360,;	1812-1836	27	31	SUCCESS
TMEM175	84286	.	GRCh37	4	952420	952420	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1577466696	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	13	25	0	ENST00000264771.4:c.*136T>C			ENST00000264771	NM_032326.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3341.1	.	SOMATICSNIPER|VARSCANS	.	AAATATCATGC	NONE	.	.	.	.	.	ENSP00000264771	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000264771	Transcript	.	.	ENSG00000127419	28709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM175_HUMAN	TMEM175	HGNC	E7ETE6_HUMAN,D6RIZ2_HUMAN,D6RBE5_HUMAN,D3DVN5_HUMAN	.	UPI000006D921	SNV	TMEM175,3_prime_UTR_variant,,ENST00000264771,;TMEM175,downstream_gene_variant,,ENST00000510493,;DGKQ,downstream_gene_variant,,ENST00000515182,;TMEM175,downstream_gene_variant,,ENST00000515492,;DGKQ,downstream_gene_variant,,ENST00000273814,;TMEM175,downstream_gene_variant,,ENST00000509508,;TMEM175,downstream_gene_variant,,ENST00000508204,;TMEM175,downstream_gene_variant,,ENST00000515740,;DGKQ,downstream_gene_variant,,ENST00000509465,;DGKQ,downstream_gene_variant,,ENST00000502309,;TMEM175,3_prime_UTR_variant,,ENST00000513952,;TMEM175,non_coding_transcript_exon_variant,,ENST00000438836,;TMEM175,downstream_gene_variant,,ENST00000506669,;TMEM175,downstream_gene_variant,,ENST00000515876,;TMEM175,downstream_gene_variant,,ENST00000452360,;	1836	25	30	SUCCESS
KIF3A	11127	.	GRCh37	5	132032297	132032297	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	144	120	205	0	ENST00000378746.4:c.*29A>G			ENST00000378746	NM_007054.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34235.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTAATTTTTA	NONE	.	.	.	.	.	ENSP00000368020	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000378746	Transcript	.	.	ENSG00000131437	6319	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF3A_HUMAN	KIF3A	HGNC	.	.	UPI000035B258	SNV	KIF3A,3_prime_UTR_variant,,ENST00000450441,;KIF3A,3_prime_UTR_variant,,ENST00000378746,;KIF3A,3_prime_UTR_variant,,ENST00000378735,;KIF3A,downstream_gene_variant,,ENST00000403231,;AC004237.1,intron_variant,,ENST00000431165,;KIF3A,non_coding_transcript_exon_variant,,ENST00000488471,;KIF3A,downstream_gene_variant,,ENST00000487055,;	2348	205	265	SUCCESS
DNAJB6	10049	.	GRCh37	7	157208880	157208880	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs139193261	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	24	33	0	ENST00000262177.4:c.*88G>T			ENST00000262177	NM_058246.3			0	.	A:0	.	A:0.0562	.	T	.	protein_coding	YES	CCDS5946.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCGTCGGT	NONE	byFrequency|byCluster|by1000G	.	.	A:0.005	.	ENSP00000262177	A:0	10/10	.	.	.	.	.	.	.	.	rs139193261	10/10	PASS	ENST00000262177	Transcript	.	A:0.0090	ENSG00000105993	14888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.001	.	.	DNJB6_HUMAN	DNAJB6	HGNC	Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN	.	UPI0000129436	SNV	DNAJB6,3_prime_UTR_variant,,ENST00000452797,;DNAJB6,3_prime_UTR_variant,,ENST00000262177,;DNAJB6,3_prime_UTR_variant,,ENST00000443280,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000494267,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000459889,;	1274	33	42	SUCCESS
REEP4	80346	.	GRCh37	8	21995989	21995989	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs753161492	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	15	0	ENST00000306306.3:c.*11A>G			ENST00000306306	NM_025232.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6024.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGATGCAGC	NONE	.	.	.	.	.	ENSP00000303482	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000306306	Transcript	.	.	ENSG00000168476	26176	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REEP4_HUMAN	REEP4	HGNC	.	.	UPI000006E42E	SNV	REEP4,synonymous_variant,p.%3D,ENST00000523293,;REEP4,3_prime_UTR_variant,,ENST00000306306,;REEP4,3_prime_UTR_variant,,ENST00000334530,;REEP4,downstream_gene_variant,,ENST00000518664,;REEP4,downstream_gene_variant,,ENST00000521744,;REEP4,downstream_gene_variant,,ENST00000519875,;REEP4,downstream_gene_variant,,ENST00000519074,;	1254	15	29	SUCCESS
XKRX	402415	.	GRCh37	X	100169286	100169286	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACV-01	TCGA-DD-AACV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	63	56	0	ENST00000372956.2:c.*41A>G			ENST00000372956				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14476.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTCTTGGCAA	NONE	.	.	.	.	.	ENSP00000362047	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372956	Transcript	.	.	ENSG00000182489	29845	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XKR2_HUMAN	XKRX	HGNC	.	.	UPI00001A7F30	SNV	XKRX,3_prime_UTR_variant,,ENST00000328526,;XKRX,3_prime_UTR_variant,,ENST00000372956,;XKRX,downstream_gene_variant,,ENST00000468904,;LL0XNC01-131B10.2,downstream_gene_variant,,ENST00000447373,;	1996	56	63	SUCCESS
TRUB1	142940	.	GRCh37	10	116735225	116735225	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	15	26	0	ENST00000298746.3:c.*87A>G			ENST00000298746	NM_139169.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7591.1	.	MUTECT|MUSE	.	GACAAACAATA	NONE	.	.	.	.	.	ENSP00000298746	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000298746	Transcript	.	.	ENSG00000165832	16060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRUB1_HUMAN	TRUB1	HGNC	B4DZ90_HUMAN,B3KWQ1_HUMAN	.	UPI000006DEBE	SNV	TRUB1,3_prime_UTR_variant,,ENST00000298746,;	1198	26	33	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	12	20	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	20	22	SUCCESS
SLC35G3	146861	.	GRCh37	17	33520277	33520277	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	24	65	0	ENST00000297307.5:c.*33A>T			ENST00000297307	NM_152462.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11293.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGTCCCTC	NONE	.	.	.	.	.	ENSP00000297307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000297307	Transcript	.	.	ENSG00000164729	26848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35G3_HUMAN	SLC35G3	HGNC	.	.	UPI000006FEAB	SNV	SLC35G3,3_prime_UTR_variant,,ENST00000297307,;UNC45B,downstream_gene_variant,,ENST00000378449,;UNC45B,downstream_gene_variant,,ENST00000433649,;UNC45B,downstream_gene_variant,,ENST00000268876,;UNC45B,downstream_gene_variant,,ENST00000394570,;RP11-799D4.2,downstream_gene_variant,,ENST00000590144,;RP11-799D4.1,downstream_gene_variant,,ENST00000592961,;	1136	65	63	SUCCESS
METTL13	0	.	GRCh37	1	171765961	171765961	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	24	0	ENST00000361735.3:c.*65A>T			ENST00000361735	NM_015935.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1299.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGAAGAAAT	NONE	.	.	.	.	.	ENSP00000354920	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,3_prime_UTR_variant,,ENST00000458517,;METTL13,3_prime_UTR_variant,,ENST00000361735,;METTL13,3_prime_UTR_variant,,ENST00000367737,;METTL13,3_prime_UTR_variant,,ENST00000362019,;METTL13,non_coding_transcript_exon_variant,,ENST00000466643,;METTL13,intron_variant,,ENST00000476386,;	2431	24	35	SUCCESS
NFU1	27247	.	GRCh37	2	69623341	69623341	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	25	59	0	ENST00000410022.2:c.*37T>G			ENST00000410022	NM_001002755.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33217.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACAAGTCTG	NONE	.	.	.	.	.	ENSP00000387219	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000410022	Transcript	.	.	ENSG00000169599	16287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFU1_HUMAN	NFU1	HGNC	F8W9P7_HUMAN,C9J8Q1_HUMAN	.	UPI00001B3DAF	SNV	NFU1,3_prime_UTR_variant,,ENST00000410022,;NFU1,3_prime_UTR_variant,,ENST00000394305,;NFU1,3_prime_UTR_variant,,ENST00000303698,;NFU1,3_prime_UTR_variant,,ENST00000462320,;NFU1,downstream_gene_variant,,ENST00000484177,;NFU1,downstream_gene_variant,,ENST00000450796,;NFU1,non_coding_transcript_exon_variant,,ENST00000471185,;NFU1,3_prime_UTR_variant,,ENST00000474230,;	1008	59	59	SUCCESS
RSBN1L	222194	.	GRCh37	7	77408705	77408705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACW-01	TCGA-DD-AACW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	4	42	0	ENST00000334955.8:c.*220T>A			ENST00000334955	NM_198467.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43607.1	.	MUTECT|MUSE	.	GTCTTTAAAAA	NONE	.	.	.	.	.	ENSP00000334040	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334955	Transcript	.	.	ENSG00000187257	24765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSBNL_HUMAN	RSBN1L	HGNC	C9JM20_HUMAN	.	UPI000020F469	SNV	RSBN1L,3_prime_UTR_variant,,ENST00000334955,;RSBN1L,3_prime_UTR_variant,,ENST00000445288,;RSBN1L,downstream_gene_variant,,ENST00000441514,;RSBN1L,downstream_gene_variant,,ENST00000445512,;	2788	42	52	SUCCESS
NANOS1	340719	.	GRCh37	10	120793455	120793455	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	48	116	0	ENST00000425699.1:c.*3263C>A			ENST00000425699	NM_199461.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7607.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTCCTGGTA	NONE	.	.	.	.	.	ENSP00000393275	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000425699	Transcript	1	.	ENSG00000188613	23044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANO1_HUMAN	NANOS1	HGNC	Q5T9H5_HUMAN	.	UPI00001D68E9	SNV	NANOS1,3_prime_UTR_variant,,ENST00000425699,;EIF3A,downstream_gene_variant,,ENST00000541549,;NANOS1,downstream_gene_variant,,ENST00000340087,;EIF3A,downstream_gene_variant,,ENST00000369144,;	4228	116	120	SUCCESS
METTL25	84190	.	GRCh37	12	82872870	82872870	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs997096446	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	42	0	ENST00000248306.3:c.*67A>T			ENST00000248306	NM_032230.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9024.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAAACATAT	NONE	.	.	.	.	.	ENSP00000248306	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000248306	Transcript	.	.	ENSG00000127720	26228	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET25_HUMAN	METTL25	HGNC	F8VZA8_HUMAN	.	UPI000013CC3E	SNV	METTL25,3_prime_UTR_variant,,ENST00000248306,;RP11-263K4.5,downstream_gene_variant,,ENST00000552532,;METTL25,non_coding_transcript_exon_variant,,ENST00000552741,;METTL25,non_coding_transcript_exon_variant,,ENST00000548432,;METTL25,non_coding_transcript_exon_variant,,ENST00000551645,;	1948	42	50	SUCCESS
DNAJC15	29103	.	GRCh37	13	43681528	43681528	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	35	72	0	ENST00000379221.2:c.*144A>G			ENST00000379221	NM_013238.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9388.1	.	MUTECT|MUSE	.	TAACAATAAAA	NONE	.	.	.	.	.	ENSP00000368523	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000379221	Transcript	.	.	ENSG00000120675	20325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DJC15_HUMAN	DNAJC15	HGNC	.	.	UPI000013D195	SNV	DNAJC15,3_prime_UTR_variant,,ENST00000379221,;	1021	72	83	SUCCESS
CTAGE5	0	.	GRCh37	14	39819623	39819623	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	35	0	ENST00000396158.2:c.*155A>G			ENST00000396158	NM_001247989.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58316.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATATGAAT	NONE	.	.	.	.	.	ENSP00000379462	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000396158	Transcript	.	.	ENSG00000150527	7057	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTGE5_HUMAN	CTAGE5	HGNC	.	.	UPI0001AE69C9	SNV	CTAGE5,3_prime_UTR_variant,,ENST00000396165,;CTAGE5,3_prime_UTR_variant,,ENST00000396158,;RP11-407N17.3,3_prime_UTR_variant,,ENST00000553728,;CTAGE5,3_prime_UTR_variant,,ENST00000553352,;CTAGE5,3_prime_UTR_variant,,ENST00000280083,;CTAGE5,3_prime_UTR_variant,,ENST00000341749,;CTAGE5,3_prime_UTR_variant,,ENST00000556148,;CTAGE5,3_prime_UTR_variant,,ENST00000348007,;RP11-407N17.3,3_prime_UTR_variant,,ENST00000603904,;CTAGE5,3_prime_UTR_variant,,ENST00000557038,;CTAGE5,intron_variant,,ENST00000341502,;CTAGE5,non_coding_transcript_exon_variant,,ENST00000553383,;	2921	35	36	SUCCESS
SOCS6	9306	.	GRCh37	18	67993679	67993679	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	34	104	0	ENST00000397942.3:c.*167T>A			ENST00000397942	NM_004232.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11998.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGTCTTGG	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,3_prime_UTR_variant,,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	2091	104	48	SUCCESS
ABI2	10152	.	GRCh37	2	204309540	204309540	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	31	69	0	ENST00000295851.5:c.*17465C>T			ENST00000295851	NM_001282925.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2359.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAACCCAAA	NONE	.	.	.	.	.	ENSP00000316543	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000319170	Transcript	.	.	ENSG00000173166	14436	.	.	MODIFIER	13/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAPH1_HUMAN	RAPH1	HGNC	C9JLG4_HUMAN	.	UPI000020940F	SNV	RAPH1,3_prime_UTR_variant,,ENST00000453034,;ABI2,3_prime_UTR_variant,,ENST00000295851,;RAPH1,intron_variant,,ENST00000423104,;RAPH1,intron_variant,,ENST00000419464,;RAPH1,intron_variant,,ENST00000374488,;RAPH1,intron_variant,,ENST00000439222,;RAPH1,intron_variant,,ENST00000374493,;RAPH1,intron_variant,,ENST00000374489,;RAPH1,intron_variant,,ENST00000457812,;RAPH1,intron_variant,,ENST00000308091,;RAPH1,intron_variant,,ENST00000319170,;RAPH1,downstream_gene_variant,,ENST00000418114,;	.	69	55	SUCCESS
TRIM71	131405	.	GRCh37	3	32933440	32933440	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1239818666	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	14	0	ENST00000383763.5:c.*137A>T			ENST00000383763	NM_001039111.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43060.1	.	MUTECT|MUSE	.	TTTTTAAAGAG	NONE	.	.	.	.	.	ENSP00000373272	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000383763	Transcript	.	.	ENSG00000206557	32669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIN41_HUMAN	TRIM71	HGNC	.	.	UPI000067CB89	SNV	TRIM71,3_prime_UTR_variant,,ENST00000383763,;	2807	14	27	SUCCESS
FGB	2244	.	GRCh37	4	155492103	155492103	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	17	0	ENST00000302068.4:c.*301G>T			ENST00000302068	NM_005141.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3786.1	.	MUTECT|MUSE	.	TCCTTGTCGTA	NONE	.	.	.	.	.	ENSP00000306099	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000302068	Transcript	1	.	ENSG00000171564	3662	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FIBB_HUMAN	FGB	HGNC	D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN	.	UPI000012A778	SNV	FGB,3_prime_UTR_variant,,ENST00000302068,;FGB,downstream_gene_variant,,ENST00000509493,;FGB,downstream_gene_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000425838,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000498375,;	1840	17	13	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562423	140562423	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	59	126	0				ENST00000239444	NM_019120.3	97		0	.	.	.	.	.	C	G/R	protein_coding	YES	CCDS4251.1	289	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGCGGTCCC	NONE	.	.	Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.912)	.	deleterious_low_confidence(0.02)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Gly97Arg,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1444	126	120	SUCCESS
C1QTNF2	114898	.	GRCh37	5	159776170	159776170	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	31	58	0	ENST00000393975.3:c.*5G>A			ENST00000393975	NM_031908.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4351.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTGGCATGTC	NONE	.	.	.	.	.	ENSP00000377545	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393975	Transcript	.	.	ENSG00000145861	14325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QT2_HUMAN	C1QTNF2	HGNC	.	.	UPI0000D4B9D3	SNV	C1QTNF2,3_prime_UTR_variant,,ENST00000393975,;CCNJL,upstream_gene_variant,,ENST00000521643,;	1002	58	58	SUCCESS
ADAM7	8756	.	GRCh37	8	24366273	24366274	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	17	0	ENST00000175238.6:c.*222dup			ENST00000175238	NM_003817.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6045.1	.	INDELOCATOR|VARSCANI	.	CTGCAGAAAAA	NONE	.	.	.	.	.	ENSP00000175238	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000175238	Transcript	.	.	ENSG00000069206	214	8	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADAM7_HUMAN	ADAM7	HGNC	.	.	UPI000013C5CC	insertion	ADAM7,3_prime_UTR_variant,,ENST00000175238,;ADAM7,3_prime_UTR_variant,,ENST00000380789,;ADAM7,intron_variant,,ENST00000520720,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-561E1.1,intron_variant,,ENST00000519364,;RP11-561E1.1,downstream_gene_variant,,ENST00000517428,;RP11-561E1.1,downstream_gene_variant,,ENST00000519893,;RP11-561E1.1,downstream_gene_variant,,ENST00000520256,;	2562-2563	17	16	SUCCESS
ANGPT2	285	.	GRCh37	8	6360354	6360354	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	10	0	ENST00000325203.5:c.*268A>T			ENST00000325203				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5958.1	.	RADIA|MUTECT|MUSE	.	GTCAGTCTGAT	NONE	.	.	.	.	.	ENSP00000314897	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000325203	Transcript	.	.	ENSG00000091879	485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANGP2_HUMAN	ANGPT2	HGNC	Q9H4C0_HUMAN	.	UPI0000034767	SNV	ANGPT2,3_prime_UTR_variant,,ENST00000415216,;ANGPT2,3_prime_UTR_variant,,ENST00000325203,;MCPH1,intron_variant,,ENST00000344683,;ANGPT2,downstream_gene_variant,,ENST00000523120,;ANGPT2,downstream_gene_variant,,ENST00000338312,;MCPH1,intron_variant,,ENST00000519221,;MCPH1,intron_variant,,ENST00000521129,;	2234	10	12	SUCCESS
SPRY3	10251	.	GRCh37	X	155004899	155004899	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACX-01	TCGA-DD-AACX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	60	117	0	ENST00000302805.2:c.*499T>C			ENST00000302805	NM_005840.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14769.4	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCTCTTTC	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	1797	117	143	SUCCESS
FECH	2235	.	GRCh37	18	55217834	55217834	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	24	0	ENST00000262093.5:c.*110A>G			ENST00000262093	NM_000140.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32836.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATATCAA	NONE	.	.	.	.	.	ENSP00000372326	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000382873	Transcript	.	.	ENSG00000066926	3647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEMH_HUMAN	FECH	HGNC	Q8TD50_HUMAN,K7EPN2_HUMAN,B4DSA4_HUMAN	.	UPI00004E55EB	SNV	FECH,3_prime_UTR_variant,,ENST00000262093,;FECH,3_prime_UTR_variant,,ENST00000382873,;FECH,downstream_gene_variant,,ENST00000592699,;FECH,downstream_gene_variant,,ENST00000591977,;FECH,3_prime_UTR_variant,,ENST00000585494,;	1434	24	23	SUCCESS
SMIM21	284274	.	GRCh37	18	73122775	73122775	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1461226215	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	27	58	0	ENST00000579022.1:c.*44C>T			ENST00000579022	NM_001037331.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32845.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGAAATC	NONE	.	.	.	.	.	ENSP00000462106	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000579022	Transcript	.	.	ENSG00000206026	27598	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMI21_HUMAN	SMIM21	HGNC	.	.	UPI00001B64CE	SNV	SMIM21,synonymous_variant,p.%3D,ENST00000382638,;SMIM21,3_prime_UTR_variant,,ENST00000579022,;RP11-321M21.3,intron_variant,,ENST00000578340,;RP11-321M21.3,intron_variant,,ENST00000579386,;	490	58	63	SUCCESS
REEP6	92840	.	GRCh37	19	1497784	1497784	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1293892305	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	31	72	0	ENST00000233596.3:c.*574G>A			ENST00000233596	NM_138393.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12070.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCGGGACCT	NONE	.	.	.	.	.	ENSP00000233596	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000233596	Transcript	.	.	ENSG00000115255	30078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REEP6_HUMAN	REEP6	HGNC	.	.	UPI00000702E3	SNV	REEP6,3_prime_UTR_variant,,ENST00000233596,;REEP6,downstream_gene_variant,,ENST00000395479,;REEP6,downstream_gene_variant,,ENST00000395484,;REEP6,downstream_gene_variant,,ENST00000591735,;	1233	72	76	SUCCESS
SAFB2	9667	.	GRCh37	19	5587219	5587219	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs771486818	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	25	117	0	ENST00000252542.4:c.*35G>A			ENST00000252542	NM_014649.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGCGTCTG	NONE	byFrequency	.	.	.	.	ENSP00000252542	.	21/21	.	.	.	.	.	.	.	.	rs771486818	21/21	PASS	ENST00000252542	Transcript	.	.	ENSG00000130254	21605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SAFB2_HUMAN	SAFB2	HGNC	.	.	UPI0000071DB7	SNV	SAFB2,3_prime_UTR_variant,,ENST00000252542,;SAFB2,non_coding_transcript_exon_variant,,ENST00000587802,;SAFB2,downstream_gene_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000590000,;	3162	117	55	SUCCESS
FAM227A	646851	.	GRCh37	22	38978643	38978643	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	13	0	ENST00000535113.1:c.*3487C>G			ENST00000535113	NM_001013647.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GAAAGGGTCCA	NONE	.	.	.	.	.	ENSP00000385758	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406767	Transcript	.	.	ENSG00000184949	44197	.	.	MODIFIER	18/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FAM227A	HGNC	I3L0D2_HUMAN	.	UPI00020658AF	SNV	FAM227A,3_prime_UTR_variant,,ENST00000535113,;FAM227A,intron_variant,,ENST00000406767,;FAM227A,intron_variant,,ENST00000355830,;FAM227A,intron_variant,,ENST00000543828,;FAM227A,downstream_gene_variant,,ENST00000540952,;	.	13	9	SUCCESS
DHX57	90957	.	GRCh37	2	39033812	39033812	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	36	97	0	ENST00000457308.1:c.*2003T>G			ENST00000457308		1235		0	.	.	.	.	.	C	F/L	protein_coding	YES	CCDS1800.1	3705	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGAAATTT	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Pfam_domain:PF07717	.	.	ENSP00000295373	.	22/24	.	.	.	.	.	.	.	.	.	22/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.044)	.	tolerated(0.05)	.	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	SNV	DHX57,missense_variant,p.Phe1235Leu,ENST00000295373,;DHX57,intron_variant,,ENST00000452978,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000497514,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;DHX57,upstream_gene_variant,,ENST00000477981,;ASS1P2,downstream_gene_variant,,ENST00000439895,;	3832	97	92	SUCCESS
KIAA0319	9856	.	GRCh37	6	24547192	24547192	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs563688643	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	8	0	ENST00000378214.3:c.*201T>A			ENST00000378214	NM_014809.3			0	.	G:0	.	G:0	.	T	.	protein_coding	YES	CCDS34348.1	.	MUTECT|MUSE	.	TTTCTATTAAC	NONE	by1000G	.	.	G:0.001	.	ENSP00000367459	G:0	21/21	.	.	.	.	.	.	.	.	rs563688643	21/21	PASS	ENST00000378214	Transcript	.	G:0.0002	ENSG00000137261	21580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	K0319_HUMAN	KIAA0319	HGNC	.	.	UPI000020D61A	SNV	KIAA0319,3_prime_UTR_variant,,ENST00000430948,;KIAA0319,3_prime_UTR_variant,,ENST00000378214,;KIAA0319,3_prime_UTR_variant,,ENST00000535378,;KIAA0319,3_prime_UTR_variant,,ENST00000537886,;KIAA0319,downstream_gene_variant,,ENST00000543707,;	3945	8	8	SUCCESS
CHRM2	1129	.	GRCh37	7	136701535	136701535	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	55	147	0				ENST00000320658	NM_001006632.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5843.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTTTTGT	NONE	.	.	.	.	.	ENSP00000399745	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000445907	Transcript	.	.	ENSG00000181072	1951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,3_prime_UTR_variant,,ENST00000401861,;CHRM2,3_prime_UTR_variant,,ENST00000397608,;CHRM2,3_prime_UTR_variant,,ENST00000402486,;CHRM2,3_prime_UTR_variant,,ENST00000445907,;CHRM2,downstream_gene_variant,,ENST00000320658,;CHRM2,downstream_gene_variant,,ENST00000453373,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	2451	147	142	SUCCESS
GNG11	2791	.	GRCh37	7	93555690	93555690	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	20	58	0	ENST00000248564.5:c.*162T>G			ENST00000248564	NM_004126.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5634.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTCATCTTTG	NONE	.	.	.	.	.	ENSP00000248564	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000248564	Transcript	.	.	ENSG00000127920	4403	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBG11_HUMAN	GNG11	HGNC	Q53Y01_HUMAN	.	UPI0000001AD4	SNV	GNG11,3_prime_UTR_variant,,ENST00000248564,;	823	58	46	SUCCESS
HMBOX1	79618	.	GRCh37	8	28908785	28908785	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AACY-01	TCGA-DD-AACY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	26	1	ENST00000287701.10:c.*113A>C			ENST00000287701	NM_001135726.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6071.1	.	MUTECT|MUSE	.	ATGTCAGGTAG	NONE	.	.	.	.	.	ENSP00000380516	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000397358	Transcript	.	.	ENSG00000147421	26137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HMBX1_HUMAN	HMBOX1	HGNC	H0YBM8_HUMAN,E5RHH9_HUMAN	.	UPI000035B023	SNV	HMBOX1,3_prime_UTR_variant,,ENST00000444075,;HMBOX1,3_prime_UTR_variant,,ENST00000524238,;HMBOX1,3_prime_UTR_variant,,ENST00000397358,;HMBOX1,3_prime_UTR_variant,,ENST00000287701,;HMBOX1,intron_variant,,ENST00000519047,;HMBOX1,intron_variant,,ENST00000355231,;HMBOX1,downstream_gene_variant,,ENST00000523613,;HMBOX1,downstream_gene_variant,,ENST00000558662,;HMBOX1,downstream_gene_variant,,ENST00000560599,;RNA5SP260,upstream_gene_variant,,ENST00000363849,;CTD-2647L4.4,upstream_gene_variant,,ENST00000560865,;HMBOX1,downstream_gene_variant,,ENST00000517386,;HMBOX1,upstream_gene_variant,,ENST00000561377,;HMBOX1,3_prime_UTR_variant,,ENST00000521516,;HMBOX1,intron_variant,,ENST00000522468,;	2080	27	27	SUCCESS
GTPBP4	23560	.	GRCh37	10	1063189	1063189	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	135	98	132	0	ENST00000360803.4:c.*22T>C			ENST00000360803	NM_012341.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31132.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCTTCGCT	NONE	.	.	.	.	.	ENSP00000354040	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000360803	Transcript	.	.	ENSG00000107937	21535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOG1_HUMAN	GTPBP4	HGNC	Q5T3R7_HUMAN,D2CFK9_HUMAN,B7Z7A3_HUMAN,B4DY13_HUMAN	.	UPI000000D960	SNV	GTPBP4,3_prime_UTR_variant,,ENST00000545048,;GTPBP4,3_prime_UTR_variant,,ENST00000360803,;GTPBP4,3_prime_UTR_variant,,ENST00000538293,;IDI2,downstream_gene_variant,,ENST00000277517,;GTPBP4,downstream_gene_variant,,ENST00000483839,;	2009	132	234	SUCCESS
C10orf53	282966	.	GRCh37	10	50902760	50902760	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	8	31	0	ENST00000374111.3:c.*112A>T			ENST00000374111	NM_001042427.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31202.1	.	MUTECT|MUSE	.	TAGTCAGAACA	NONE	.	.	.	.	.	ENSP00000363226	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374112	Transcript	.	.	ENSG00000178645	27421	.	.	MODIFIER	2/2	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CJ053_HUMAN	C10orf53	HGNC	.	.	UPI00001406B3	SNV	C10orf53,3_prime_UTR_variant,,ENST00000374111,;C10orf53,3_prime_UTR_variant,,ENST00000374113,;C10orf53,intron_variant,,ENST00000374112,;C10orf53,intron_variant,,ENST00000535836,;CHAT,downstream_gene_variant,,ENST00000455728,;	.	31	36	SUCCESS
MMP20	9313	.	GRCh37	11	102447935	102447935	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	45	0	ENST00000260228.2:c.*122A>G			ENST00000260228	NM_004771.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8318.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGAATTCTAA	NONE	.	.	.	.	.	ENSP00000260228	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000260228	Transcript	.	.	ENSG00000137674	7167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MMP20_HUMAN	MMP20	HGNC	.	.	UPI000013D0B3	SNV	MMP20,3_prime_UTR_variant,,ENST00000260228,;MMP20,non_coding_transcript_exon_variant,,ENST00000542305,;	1587	45	50	SUCCESS
NELL1	4745	.	GRCh37	11	21596719	21596719	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	25	0	ENST00000357134.5:c.*151G>T			ENST00000357134	NM_201551.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7855.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGGTTGC	NONE	.	.	.	.	.	ENSP00000349654	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000357134	Transcript	.	.	ENSG00000165973	7750	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NELL1_HUMAN	NELL1	HGNC	K9UUD5_HUMAN	.	UPI000013E53D	SNV	NELL1,3_prime_UTR_variant,,ENST00000325319,;NELL1,3_prime_UTR_variant,,ENST00000357134,;NELL1,3_prime_UTR_variant,,ENST00000298925,;NELL1,downstream_gene_variant,,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;	2736	25	21	SUCCESS
OR51E1	143503	.	GRCh37	11	4675514	4675514	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	120	0	ENST00000396952.5:c.*801G>T			ENST00000396952	NM_152430.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31358.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGGGTAGT	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	2408	121	123	SUCCESS
KRT85	3891	.	GRCh37	12	52754465	52754465	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	15	0	ENST00000257901.3:c.*172T>A			ENST00000257901	NM_002283.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8824.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCATGAAA	NONE	.	.	.	.	.	ENSP00000257901	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000257901	Transcript	.	.	ENSG00000135443	6462	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT85_HUMAN	KRT85	HGNC	.	.	UPI000006EB3B	SNV	KRT85,3_prime_UTR_variant,,ENST00000544265,;KRT85,3_prime_UTR_variant,,ENST00000257901,;KRT85,downstream_gene_variant,,ENST00000552537,;	1772	15	18	SUCCESS
SERTM1	400120	.	GRCh37	13	37271081	37271081	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	135	28	114	0	ENST00000315190.3:c.*1542A>G			ENST00000315190	NM_203451.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9358.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAAGAATC	NONE	.	.	.	.	.	ENSP00000325776	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315190	Transcript	.	.	ENSG00000180440	33792	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRTM1_HUMAN	SERTM1	HGNC	.	.	UPI00000306E4	SNV	SERTM1,3_prime_UTR_variant,,ENST00000315190,;	2312	114	164	SUCCESS
RTL1	388015	.	GRCh37	14	101347044	101347044	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	56	0	ENST00000534062.1:c.*5G>T			ENST00000534062	NM_001134888.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53910.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGTCTT	NONE	.	.	.	.	.	ENSP00000435342	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000534062	Transcript	1	.	ENSG00000254656	14665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTL1_HUMAN	RTL1	HGNC	.	.	UPI00001D7B9E	SNV	RTL1,3_prime_UTR_variant,,ENST00000534062,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,upstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR431,upstream_gene_variant,,ENST00000385266,;	4141	56	60	SUCCESS
ZFP36L1	677	.	GRCh37	14	69262495	69262496	+	upstream_gene_variant	5'Flank	INS	-	-	TGTC	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	94	19	162	0				ENST00000336440				0	.	.	.	.	.	TGTC	.	protein_coding	YES	CCDS9791.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTAAATTGTCG	NONE	.	2538	.	.	.	ENSP00000388402	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000439696	Transcript	.	.	ENSG00000185650	1107	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TISB_HUMAN	ZFP36L1	HGNC	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN	.	UPI0000136FBC	insertion	ZFP36L1,3_prime_UTR_variant,,ENST00000408913,;ZFP36L1,intron_variant,,ENST00000557022,;ZFP36L1,intron_variant,,ENST00000553375,;ZFP36L1,intron_variant,,ENST00000557086,;ZFP36L1,upstream_gene_variant,,ENST00000336440,;ZFP36L1,upstream_gene_variant,,ENST00000439696,;ZFP36L1,upstream_gene_variant,,ENST00000555997,;	.	162	113	SUCCESS
SRSF5	6430	.	GRCh37	14	70238223	70238223	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs771027990	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	50	0	ENST00000394366.2:c.*45A>G			ENST00000394366	NM_001039465.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32109.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAAACCACA	NONE	byFrequency	.	.	.	.	ENSP00000452123	.	9/9	.	.	.	.	.	.	.	.	rs771027990	9/9	PASS	ENST00000553521	Transcript	.	.	ENSG00000100650	10787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRSF5_HUMAN	SRSF5	HGNC	Q86U32_HUMAN,G3V5K8_HUMAN	.	UPI00001358C0	SNV	SRSF5,3_prime_UTR_variant,,ENST00000553521,;SRSF5,3_prime_UTR_variant,,ENST00000553635,;SRSF5,3_prime_UTR_variant,,ENST00000557154,;SRSF5,3_prime_UTR_variant,,ENST00000394366,;SLC10A1,downstream_gene_variant,,ENST00000216540,;SRSF5,downstream_gene_variant,,ENST00000554021,;SRSF5,downstream_gene_variant,,ENST00000553369,;SRSF5,downstream_gene_variant,,ENST00000451983,;SRSF5,downstream_gene_variant,,ENST00000553548,;SRSF5,downstream_gene_variant,,ENST00000555349,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556647,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556587,;SRSF5,3_prime_UTR_variant,,ENST00000555547,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554929,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554465,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556184,;SRSF5,downstream_gene_variant,,ENST00000555412,;SRSF5,downstream_gene_variant,,ENST00000557460,;SRSF5,downstream_gene_variant,,ENST00000556436,;SRSF5,downstream_gene_variant,,ENST00000557435,;SRSF5,downstream_gene_variant,,ENST00000556330,;	2317	50	36	SUCCESS
COL1A1	1277	.	GRCh37	17	48262774	48262774	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	9	53	0	ENST00000225964.5:c.*89C>G			ENST00000225964	NM_000088.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11561.1	.	MUTECT|MUSE	.	CTTTTGAGGGG	NONE	.	.	.	.	.	ENSP00000225964	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000225964	Transcript	.	.	ENSG00000108821	2197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO1A1_HUMAN	COL1A1	HGNC	Q9UMA6_HUMAN,Q6LAN8_HUMAN	.	UPI000013C88B	SNV	COL1A1,3_prime_UTR_variant,,ENST00000225964,;HILS1,upstream_gene_variant,,ENST00000504307,;COL1A1,downstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;	4603	53	50	SUCCESS
RAB37	326624	.	GRCh37	17	72741768	72741768	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	9	0	ENST00000392613.5:c.*218T>A			ENST00000392613	NM_001006638.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54161.1	.	MUTECT|MUSE	.	TTTAATAGTAC	NONE	.	.	.	.	.	ENSP00000376390	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392614	Transcript	.	.	ENSG00000172794	30268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAB37_HUMAN	RAB37	HGNC	B3KPZ5_HUMAN	.	UPI0000E5A090	SNV	RAB37,3_prime_UTR_variant,,ENST00000392615,;RAB37,3_prime_UTR_variant,,ENST00000392613,;RAB37,3_prime_UTR_variant,,ENST00000392612,;RAB37,3_prime_UTR_variant,,ENST00000402449,;RAB37,3_prime_UTR_variant,,ENST00000528438,;RAB37,3_prime_UTR_variant,,ENST00000340415,;RAB37,3_prime_UTR_variant,,ENST00000392610,;RAB37,3_prime_UTR_variant,,ENST00000392614,;SLC9A3R1,upstream_gene_variant,,ENST00000583369,;SLC9A3R1,upstream_gene_variant,,ENST00000262613,;MIR3615,upstream_gene_variant,,ENST00000581999,;MIR3615,downstream_gene_variant,,ENST00000585285,;RAB37,non_coding_transcript_exon_variant,,ENST00000488977,;RAB37,non_coding_transcript_exon_variant,,ENST00000531420,;RAB37,non_coding_transcript_exon_variant,,ENST00000392617,;RAB37,intron_variant,,ENST00000481224,;RAB37,downstream_gene_variant,,ENST00000577548,;RAB37,downstream_gene_variant,,ENST00000533530,;RAB37,downstream_gene_variant,,ENST00000527040,;	998	9	20	SUCCESS
MIB2	142678	.	GRCh37	1	1565914	1565914	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	48	0	ENST00000505820.2:c.*4G>A			ENST00000505820				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41224.2	.	MUTECT|MUSE	.	GAGCCGCGCCG	NONE	.	.	.	.	.	ENSP00000426103	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000505820	Transcript	.	.	ENSG00000197530	30577	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MIB2_HUMAN	MIB2	HGNC	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN	.	UPI0001C0B37A	SNV	MIB2,3_prime_UTR_variant,,ENST00000355826,;MIB2,3_prime_UTR_variant,,ENST00000514234,;MIB2,3_prime_UTR_variant,,ENST00000378708,;MIB2,3_prime_UTR_variant,,ENST00000360522,;MIB2,3_prime_UTR_variant,,ENST00000504599,;MIB2,3_prime_UTR_variant,,ENST00000518681,;MIB2,3_prime_UTR_variant,,ENST00000483015,;MIB2,3_prime_UTR_variant,,ENST00000520777,;MIB2,3_prime_UTR_variant,,ENST00000505820,;MIB2,3_prime_UTR_variant,,ENST00000378712,;MIB2,3_prime_UTR_variant,,ENST00000357210,;MIB2,3_prime_UTR_variant,,ENST00000378710,;MMP23B,upstream_gene_variant,,ENST00000356026,;MMP23B,upstream_gene_variant,,ENST00000435358,;MMP23B,upstream_gene_variant,,ENST00000472264,;CDK11B,downstream_gene_variant,,ENST00000513088,;MMP23B,upstream_gene_variant,,ENST00000479814,;MMP23B,upstream_gene_variant,,ENST00000378675,;MMP23B,upstream_gene_variant,,ENST00000503792,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000487053,;MIB2,non_coding_transcript_exon_variant,,ENST00000470373,;MIB2,non_coding_transcript_exon_variant,,ENST00000511910,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000473511,;MIB2,downstream_gene_variant,,ENST00000505370,;MMP23B,upstream_gene_variant,,ENST00000486400,;MMP23B,upstream_gene_variant,,ENST00000490017,;MIB2,downstream_gene_variant,,ENST00000506488,;MMP23B,upstream_gene_variant,,ENST00000489782,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000507229,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000464570,;	3234	48	37	SUCCESS
SNTA1	6640	.	GRCh37	20	31996123	31996123	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	8	0	ENST00000217381.2:c.*190C>A			ENST00000217381	NM_003098.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13220.1	.	MUTECT|MUSE	.	GCAGAGTCCAC	NONE	.	.	.	.	.	ENSP00000217381	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000217381	Transcript	1	.	ENSG00000101400	11167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNTA1_HUMAN	SNTA1	HGNC	B3KTR0_HUMAN	.	UPI0000135B08	SNV	SNTA1,3_prime_UTR_variant,,ENST00000217381,;	1980	8	12	SUCCESS
LMAN2L	81562	.	GRCh37	2	97368053	97368053	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs769361160	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	226	77	187	0				ENST00000264963	NM_030805.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46365.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCGATGC	NONE	byFrequency	4024	.	.	.	ENSP00000366280	.	.	.	.	.	.	.	.	.	.	rs769361160	.	PASS	ENST00000377079	Transcript	.	.	ENSG00000114988	19263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMA2L_HUMAN	LMAN2L	HGNC	B4DI83_HUMAN	.	UPI000044099B	SNV	LMAN2L,downstream_gene_variant,,ENST00000534882,;LMAN2L,downstream_gene_variant,,ENST00000426463,;LMAN2L,downstream_gene_variant,,ENST00000377079,;LMAN2L,downstream_gene_variant,,ENST00000537039,;LMAN2L,downstream_gene_variant,,ENST00000264963,;FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,;LMAN2L,downstream_gene_variant,,ENST00000434524,;LMAN2L,downstream_gene_variant,,ENST00000434865,;LMAN2L,downstream_gene_variant,,ENST00000440610,;LMAN2L,downstream_gene_variant,,ENST00000446780,;LMAN2L,downstream_gene_variant,,ENST00000449221,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000414152,;FER1L5,non_coding_transcript_exon_variant,,ENST00000397978,;FER1L5,non_coding_transcript_exon_variant,,ENST00000424961,;	.	187	303	SUCCESS
CELSR3	1951	.	GRCh37	3	48672878	48672878	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs573721245	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	74	127	0				ENST00000164024	NM_001407.2			0	.	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS43087.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGCTACG	NONE	by1000G	4	.	T:0	.	ENSP00000378920	T:0	.	.	.	.	.	.	.	.	.	rs573721245	.	PASS	ENST00000395550	Transcript	.	T:0.0002	ENSG00000225697	14472	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	S26A6_HUMAN	SLC26A6	HGNC	Q9Y3Y1_HUMAN	.	UPI0000135460	SNV	SLC26A6,5_prime_UTR_variant,,ENST00000383733,;SLC26A6,5_prime_UTR_variant,,ENST00000420764,;SLC26A6,5_prime_UTR_variant,,ENST00000337000,;SLC26A6,upstream_gene_variant,,ENST00000421649,;SLC26A6,upstream_gene_variant,,ENST00000455886,;SLC26A6,upstream_gene_variant,,ENST00000358747,;SLC26A6,upstream_gene_variant,,ENST00000426599,;SLC26A6,upstream_gene_variant,,ENST00000395550,;SLC26A6,upstream_gene_variant,,ENST00000431739,;CELSR3,downstream_gene_variant,,ENST00000544264,;CELSR3,downstream_gene_variant,,ENST00000164024,;SLC26A6,upstream_gene_variant,,ENST00000482282,;SLC26A6,5_prime_UTR_variant,,ENST00000307364,;CELSR3,downstream_gene_variant,,ENST00000461362,;SLC26A6,upstream_gene_variant,,ENST00000431213,;SLC26A6,upstream_gene_variant,,ENST00000480524,;SLC26A6,upstream_gene_variant,,ENST00000414944,;SLC26A6,upstream_gene_variant,,ENST00000496469,;SLC26A6,upstream_gene_variant,,ENST00000489483,;CELSR3,downstream_gene_variant,,ENST00000498057,;SLC26A6,upstream_gene_variant,,ENST00000444531,;SLC26A6,upstream_gene_variant,,ENST00000485361,;SLC26A6,upstream_gene_variant,,ENST00000494717,;	.	127	167	SUCCESS
BASP1	10409	.	GRCh37	5	17276070	17276070	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs904163594	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	268	117	253	0	ENST00000322611.3:c.*61C>A			ENST00000322611	NM_006317.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3888.1	.	SOMATICSNIPER|VARSCANS	.	TCTCTCTCTCT	NONE	.	.	.	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,3_prime_UTR_variant,,ENST00000322611,;BASP1,downstream_gene_variant,,ENST00000606445,;	1005	253	386	SUCCESS
FOXC1	2296	.	GRCh37	6	1612686	1612686	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	18	79	0	ENST00000380874.2:c.*344T>A			ENST00000380874	NM_001453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4473.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCTGCTTT	NONE	.	.	.	.	.	ENSP00000370256	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000380874	Transcript	.	.	ENSG00000054598	3800	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXC1_HUMAN	FOXC1	HGNC	C6KMR8_HUMAN	.	UPI000012ADC5	SNV	FOXC1,3_prime_UTR_variant,,ENST00000380874,;	2006	79	111	SUCCESS
T	0	.	GRCh37	6	166571738	166571738	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1582963021	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	21	73	0	ENST00000296946.2:c.*65A>G			ENST00000296946	NM_003181.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5290.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCAATCCAGT	NONE	.	.	.	.	.	ENSP00000296946	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,3_prime_UTR_variant,,ENST00000366871,;T,3_prime_UTR_variant,,ENST00000296946,;T,downstream_gene_variant,,ENST00000366876,;	1842	73	75	SUCCESS
RPS18	6222	.	GRCh37	6	33239727	33239727	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1304874876	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	33	0				ENST00000439602				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4770.2	.	MUTECT|MUSE	.	TTGTGGTACCC	NONE	.	56	.	.	.	ENSP00000409952	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000445902	Transcript	.	.	ENSG00000223501	10518	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VPS52_HUMAN	VPS52	HGNC	B4DS44_HUMAN,B4DNI9_HUMAN	.	UPI000006E468	SNV	VPS52,upstream_gene_variant,,ENST00000436044,;VPS52,upstream_gene_variant,,ENST00000482399,;RPS18,upstream_gene_variant,,ENST00000474973,;VPS52,upstream_gene_variant,,ENST00000445902,;RPS18,upstream_gene_variant,,ENST00000439602,;VPS52,non_coding_transcript_exon_variant,,ENST00000478934,;VPS52,upstream_gene_variant,,ENST00000464425,;RPS18,upstream_gene_variant,,ENST00000476222,;VPS52,upstream_gene_variant,,ENST00000463486,;RPS18,upstream_gene_variant,,ENST00000472218,;RPS18,upstream_gene_variant,,ENST00000496813,;RPS18,upstream_gene_variant,,ENST00000490191,;RPS18,upstream_gene_variant,,ENST00000479802,;VPS52,upstream_gene_variant,,ENST00000493379,;RPS18,upstream_gene_variant,,ENST00000474626,;VPS52,upstream_gene_variant,,ENST00000495755,;	.	33	31	SUCCESS
MRPS2	51116	.	GRCh37	9	138391730	138391730	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-DD-AACZ-01	TCGA-DD-AACZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	49	0				ENST00000241600	NM_016034.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43899.1	.	MUTECT|MUSE	.	CGGCGTCCTGT	NONE	.	12	.	.	.	ENSP00000395281	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000429260	Transcript	.	.	ENSG00000160345	28435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CI116_HUMAN	C9orf116	HGNC	.	.	UPI0000210EFC	SNV	C9orf116,5_prime_UTR_variant,,ENST00000371791,;C9orf116,5_prime_UTR_variant,,ENST00000371789,;C9orf116,upstream_gene_variant,,ENST00000419770,;MRPS2,upstream_gene_variant,,ENST00000453385,;MRPS2,upstream_gene_variant,,ENST00000241600,;C9orf116,upstream_gene_variant,,ENST00000429260,;MRPS2,upstream_gene_variant,,ENST00000371785,;RP11-426A6.5,downstream_gene_variant,,ENST00000415062,;MRPS2,upstream_gene_variant,,ENST00000488610,;MRPS2,upstream_gene_variant,,ENST00000472946,;MRPS2,upstream_gene_variant,,ENST00000472852,;MRPS2,upstream_gene_variant,,ENST00000462948,;MRPS2,upstream_gene_variant,,ENST00000485333,;C9orf116,upstream_gene_variant,,ENST00000371786,;	.	49	49	SUCCESS
FUT4	2526	.	GRCh37	11	94282476	94282476	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs149394918	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	41	48	0	ENST00000358752.2:c.*3584A>G			ENST00000358752	NM_002033.3			0	.	G:0.0015	.	G:0	.	G	.	protein_coding	YES	CCDS8301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACCATCAGT	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000351602	G:0	1/1	.	.	.	.	.	.	.	.	rs149394918	1/1	PASS	ENST00000358752	Transcript	.	G:0.0004	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	5460	48	79	SUCCESS
SLC8B1	80024	.	GRCh37	12	113737432	113737432	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	21	0	ENST00000202831.3:c.*150G>C			ENST00000202831	NM_024959.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31909.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCTCACA	NONE	.	.	.	.	.	ENSP00000447091	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000552014	Transcript	.	.	ENSG00000089060	26175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKX6_HUMAN	SLC8B1	HGNC	F8VWW9_HUMAN,F8VTU4_HUMAN,F8VR99_HUMAN	.	UPI000004FA44	SNV	SLC8B1,3_prime_UTR_variant,,ENST00000552014,;SLC8B1,3_prime_UTR_variant,,ENST00000202831,;SLC8B1,3_prime_UTR_variant,,ENST00000549069,;SLC8B1,3_prime_UTR_variant,,ENST00000550047,;TPCN1,downstream_gene_variant,,ENST00000541517,;TPCN1,downstream_gene_variant,,ENST00000392569,;TPCN1,downstream_gene_variant,,ENST00000335509,;SLC8B1,downstream_gene_variant,,ENST00000546737,;TPCN1,downstream_gene_variant,,ENST00000550785,;TPCN1,downstream_gene_variant,,ENST00000546787,;SLC8B1,3_prime_UTR_variant,,ENST00000550672,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000552565,;TPCN1,downstream_gene_variant,,ENST00000552077,;TPCN1,downstream_gene_variant,,ENST00000551127,;	2421	21	17	SUCCESS
ITGB7	3695	.	GRCh37	12	53585196	53585197	+	3_prime_UTR_variant	3'UTR	DEL	CT	CT	-	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	CT	CT	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	24	0	ENST00000267082.5:c.*143_*144del			ENST00000267082	NM_000889.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8849.1	.	INDELOCATOR*|PINDEL	.	GTGTCACTCTGAA	NONE	.	.	.	.	.	ENSP00000267082	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000267082	Transcript	.	.	ENSG00000139626	6162	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ITB7_HUMAN	ITGB7	HGNC	H3BRM2_HUMAN,F8W186_HUMAN,F8VNX4_HUMAN,B7Z506_HUMAN	.	UPI0000000DF7	deletion	ITGB7,3_prime_UTR_variant,,ENST00000267082,;ITGB7,3_prime_UTR_variant,,ENST00000422257,;ITGB7,3_prime_UTR_variant,,ENST00000551319,;ITGB7,3_prime_UTR_variant,,ENST00000338737,;ITGB7,3_prime_UTR_variant,,ENST00000550743,;ZNF740,downstream_gene_variant,,ENST00000416904,;ZNF740,downstream_gene_variant,,ENST00000551514,;ITGB7,downstream_gene_variant,,ENST00000548269,;ITGB7,downstream_gene_variant,,ENST00000551887,;ITGB7,downstream_gene_variant,,ENST00000589179,;ITGB7,downstream_gene_variant,,ENST00000549196,;ITGB7,downstream_gene_variant,,ENST00000542497,;ZNF740,downstream_gene_variant,,ENST00000549739,;ITGB7,downstream_gene_variant,,ENST00000548706,;	2772-2773	24	21	SUCCESS
LCMT1	51451	.	GRCh37	16	25189482	25189482	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	13	8	0	ENST00000399069.3:c.*138G>A			ENST00000399069	NM_016309.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45445.1	.	MUTECT|MUSE|VARSCANS	.	ACAGTGGTCGC	NONE	.	.	.	.	.	ENSP00000382021	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000399069	Transcript	.	.	ENSG00000205629	17557	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LCMT1_HUMAN	LCMT1	HGNC	I3L2Q8_HUMAN	.	UPI0000000C29	SNV	LCMT1,missense_variant,p.Gly129Ser,ENST00000575396,;LCMT1,3_prime_UTR_variant,,ENST00000399069,;LCMT1,downstream_gene_variant,,ENST00000380966,;LCMT1,downstream_gene_variant,,ENST00000572869,;LCMT1,3_prime_UTR_variant,,ENST00000564011,;LCMT1,3_prime_UTR_variant,,ENST00000380962,;LCMT1,non_coding_transcript_exon_variant,,ENST00000574450,;LCMT1,downstream_gene_variant,,ENST00000576625,;	1298	8	27	SUCCESS
NETO2	81831	.	GRCh37	16	47117044	47117044	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	51	0	ENST00000562435.1:c.*88C>A			ENST00000562435	NM_018092.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10727.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGAGAAAAG	NONE	.	.	.	.	.	ENSP00000455169	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000562435	Transcript	.	.	ENSG00000171208	14644	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NETO2_HUMAN	NETO2	HGNC	.	.	UPI000003C718	SNV	NETO2,3_prime_UTR_variant,,ENST00000562435,;NETO2,3_prime_UTR_variant,,ENST00000303155,;NETO2,3_prime_UTR_variant,,ENST00000564667,;NETO2,3_prime_UTR_variant,,ENST00000562559,;NETO2,downstream_gene_variant,,ENST00000563078,;	2051	51	48	SUCCESS
B3GALT1	8708	.	GRCh37	2	168727097	168727097	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	50	99	0	ENST00000392690.3:c.*567T>G			ENST00000392690				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2227.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATTTGAGAA	NONE	.	.	.	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,3_prime_UTR_variant,,ENST00000305861,;B3GALT1,3_prime_UTR_variant,,ENST00000392690,;AC016723.4,intron_variant,,ENST00000436982,;AC016723.4,upstream_gene_variant,,ENST00000430546,;	1640	99	94	SUCCESS
TMPRSS11E	28983	.	GRCh37	4	69362668	69362668	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	25	51	0	ENST00000305363.4:c.*146T>G			ENST00000305363	NM_014058.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33993.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTCTTCC	NONE	.	.	.	.	.	ENSP00000307519	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000305363	Transcript	.	.	ENSG00000087128	24465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM11E_HUMAN	TMPRSS11E	HGNC	Q4W5P3_HUMAN	.	UPI00000389F7	SNV	TMPRSS11E,3_prime_UTR_variant,,ENST00000305363,;	1482	51	61	SUCCESS
MSH5	4439	.	GRCh37	6	31730369	31730369	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	3	50	0	ENST00000375750.3:c.*61G>T			ENST00000375750	NM_172165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34410.1	.	MUTECT|MUSE	.	TCTTTGTTTCC	NONE	.	.	.	.	.	ENSP00000364855	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000375703	Transcript	.	.	ENSG00000204410	7328	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSH5_HUMAN	MSH5	HGNC	Q5SSR2_HUMAN	.	UPI0000070722	SNV	MSH5,3_prime_UTR_variant,,ENST00000395853,;MSH5,3_prime_UTR_variant,,ENST00000375740,;MSH5,3_prime_UTR_variant,,ENST00000375755,;MSH5,3_prime_UTR_variant,,ENST00000375750,;MSH5,3_prime_UTR_variant,,ENST00000534153,;MSH5,3_prime_UTR_variant,,ENST00000375742,;MSH5,3_prime_UTR_variant,,ENST00000375703,;MSH5,3_prime_UTR_variant,,ENST00000431848,;MSH5,3_prime_UTR_variant,,ENST00000429846,;VWA7,downstream_gene_variant,,ENST00000375686,;SAPCD1,upstream_gene_variant,,ENST00000415669,;VWA7,downstream_gene_variant,,ENST00000447450,;SAPCD1,upstream_gene_variant,,ENST00000433778,;SAPCD1,upstream_gene_variant,,ENST00000425424,;VWA7,downstream_gene_variant,,ENST00000375688,;MSH5,downstream_gene_variant,,ENST00000450148,;SAPCD1-AS1,downstream_gene_variant,,ENST00000419679,;MSH5-SAPCD1,intron_variant,,ENST00000491552,;VWA7,downstream_gene_variant,,ENST00000467576,;MSH5,downstream_gene_variant,,ENST00000468602,;MSH5,3_prime_UTR_variant,,ENST00000463144,;MSH5-SAPCD1,3_prime_UTR_variant,,ENST00000493662,;MSH5,3_prime_UTR_variant,,ENST00000484309,;MSH5,non_coding_transcript_exon_variant,,ENST00000494458,;MSH5-SAPCD1,intron_variant,,ENST00000476085,;MSH5-SAPCD1,intron_variant,,ENST00000498473,;MSH5,downstream_gene_variant,,ENST00000494646,;VWA7,downstream_gene_variant,,ENST00000486423,;MSH5,downstream_gene_variant,,ENST00000467319,;MSH5,downstream_gene_variant,,ENST00000423982,;MSH5,downstream_gene_variant,,ENST00000468136,;SAPCD1,upstream_gene_variant,,ENST00000494299,;	2624	50	45	SUCCESS
C4B-AS1	106480730	.	GRCh37	6	32007589	32007589	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs754019944	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	331	236	609	0				ENST00000415626		239		0	.	.	.	.	.	T	E/*	protein_coding	YES	CCDS4735.1	715	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGTGGAGATG	NONE	.	.	hmmpanther:PTHR24281:SF2,hmmpanther:PTHR24281,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000408860	.	6/10	.	.	.	.	.	.	.	.	rs754019944,COSM741813	6/10	PASS	ENST00000418967	Transcript	.	.	ENSG00000231852	2600	.	.	HIGH	.	PRIMARY	.	.	.	.	5	0,1	.	.	.	.	.	0,1	.	CYP21A2	HGNC	Q9UP07_HUMAN,Q7KYP0_HUMAN,Q16874_HUMAN,C6K7H0_HUMAN,B6VE01_HUMAN	.	UPI0000073F52	SNV	CYP21A2,stop_gained,p.Glu239Ter,ENST00000418967,;CYP21A2,stop_gained,p.Glu209Ter,ENST00000435122,;C4B,downstream_gene_variant,,ENST00000435363,;CYP21A2,downstream_gene_variant,,ENST00000478281,;TNXB,downstream_gene_variant,,ENST00000375247,;TNXB,downstream_gene_variant,,ENST00000451343,;CYP21A2,downstream_gene_variant,,ENST00000471671,;C4B,downstream_gene_variant,,ENST00000425700,;TNXB,downstream_gene_variant,,ENST00000375244,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,3_prime_UTR_variant,,ENST00000466779,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000462278,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000466879,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;C4B,downstream_gene_variant,,ENST00000468936,;TNXB,downstream_gene_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000488465,;TNXB,downstream_gene_variant,,ENST00000490077,;C4B,downstream_gene_variant,,ENST00000496065,;CYP21A2,downstream_gene_variant,,ENST00000469053,;C4B,downstream_gene_variant,,ENST00000468237,;C4B,downstream_gene_variant,,ENST00000463249,;CYP21A2,downstream_gene_variant,,ENST00000464325,;CYP21A2,downstream_gene_variant,,ENST00000480027,;	873	609	567	SUCCESS
PAQR8	85315	.	GRCh37	6	52269957	52269957	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	38	49	0	ENST00000360726.3:c.*881G>T			ENST00000360726				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4941.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGAGATC	NONE	.	.	.	.	.	ENSP00000406197	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000442253	Transcript	.	.	ENSG00000170915	15708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPRB_HUMAN	PAQR8	HGNC	D6RCM7_HUMAN	.	UPI0000073877	SNV	PAQR8,3_prime_UTR_variant,,ENST00000442253,;PAQR8,3_prime_UTR_variant,,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;	2120	49	63	SUCCESS
TPBG	7162	.	GRCh37	6	83076149	83076149	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	59	96	0	ENST00000369750.3:c.*208A>G			ENST00000369750				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4995.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTTACCCTC	NONE	.	.	.	.	.	ENSP00000358765	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369750	Transcript	.	.	ENSG00000146242	12004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPBG_HUMAN	TPBG	HGNC	A8K555_HUMAN	.	UPI000004CAD5	SNV	TPBG,3_prime_UTR_variant,,ENST00000369750,;TPBG,3_prime_UTR_variant,,ENST00000535040,;TPBG,3_prime_UTR_variant,,ENST00000543496,;	2088	96	101	SUCCESS
TOR4A	54863	.	GRCh37	9	140176526	140176526	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD0-01	TCGA-DD-AAD0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	34	84	0	ENST00000357503.2:c.*2113C>T			ENST00000357503	NM_017723.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7041.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACCCACCT	NONE	.	.	.	.	.	ENSP00000350102	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357503	Transcript	.	.	ENSG00000198113	25981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOR4A_HUMAN	TOR4A	HGNC	.	.	UPI00004577EC	SNV	TOR4A,3_prime_UTR_variant,,ENST00000357503,;RP13-122B23.9,upstream_gene_variant,,ENST00000605600,;	3581	84	82	SUCCESS
HABP2	3026	.	GRCh37	10	115348714	115348714	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	70	0	ENST00000351270.3:c.*586G>A			ENST00000351270	NM_004132.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7579.1	.	MUTECT|MUSE|VARSCANS	.	TCTCAGGAATC	NONE	.	.	.	.	.	ENSP00000353078	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000359988	Transcript	.	.	ENSG00000197893	7988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NRAP_HUMAN	NRAP	HGNC	.	.	UPI00001F9739	SNV	NRAP,3_prime_UTR_variant,,ENST00000369360,;NRAP,3_prime_UTR_variant,,ENST00000369358,;NRAP,3_prime_UTR_variant,,ENST00000360478,;HABP2,3_prime_UTR_variant,,ENST00000351270,;HABP2,3_prime_UTR_variant,,ENST00000542051,;NRAP,3_prime_UTR_variant,,ENST00000359988,;	5458	70	49	SUCCESS
DDI1	414301	.	GRCh37	11	103908978	103908978	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	27	130	0	ENST00000302259.3:c.*237C>A			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31660.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCAGCTG	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1671	130	98	SUCCESS
TNFRSF1A	7132	.	GRCh37	12	6438464	6438464	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	7	115	0	ENST00000162749.2:c.*14C>T			ENST00000162749	NM_001065.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8542.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCGCAGGG	NONE	.	.	.	.	.	ENSP00000162749	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000162749	Transcript	.	.	ENSG00000067182	11916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TNR1A_HUMAN	TNFRSF1A	HGNC	J9PH39_HUMAN,F5H4T5_HUMAN	.	UPI000002CE11	SNV	TNFRSF1A,3_prime_UTR_variant,,ENST00000162749,;TNFRSF1A,3_prime_UTR_variant,,ENST00000540022,;PLEKHG6,downstream_gene_variant,,ENST00000011684,;TNFRSF1A,downstream_gene_variant,,ENST00000539372,;PLEKHG6,downstream_gene_variant,,ENST00000304581,;PLEKHG6,downstream_gene_variant,,ENST00000449001,;TNFRSF1A,downstream_gene_variant,,ENST00000366159,;TNFRSF1A,downstream_gene_variant,,ENST00000536194,;PLEKHG6,downstream_gene_variant,,ENST00000396988,;TNFRSF1A,downstream_gene_variant,,ENST00000440083,;TNFRSF1A,downstream_gene_variant,,ENST00000535958,;TNFRSF1A,downstream_gene_variant,,ENST00000543359,;TNFRSF1A,downstream_gene_variant,,ENST00000537842,;TNFRSF1A,downstream_gene_variant,,ENST00000437813,;TNFRSF1A,downstream_gene_variant,,ENST00000538363,;TNFRSF1A,downstream_gene_variant,,ENST00000535038,;TNFRSF1A,3_prime_UTR_variant,,ENST00000543995,;TNFRSF1A,3_prime_UTR_variant,,ENST00000534885,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000536717,;TNFRSF1A,downstream_gene_variant,,ENST00000543048,;	1682	115	69	SUCCESS
LRRIQ1	84125	.	GRCh37	12	85638822	85638822	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	36	183	0	ENST00000393217.2:c.*103T>C			ENST00000393217	NM_001079910.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41816.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAATTTTTT	NONE	.	.	.	.	.	ENSP00000376910	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000393217	Transcript	.	.	ENSG00000133640	25708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRIQ1_HUMAN	LRRIQ1	HGNC	A8MY60_HUMAN	.	UPI0000ED4E82	SNV	LRRIQ1,3_prime_UTR_variant,,ENST00000393217,;LRRIQ1,intron_variant,,ENST00000528777,;	5333	183	118	SUCCESS
UBE2I	7329	.	GRCh37	16	1374836	1374836	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	12	59	0	ENST00000325437.5:c.*43del			ENST00000325437	NM_194261.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10433.1	.	INDELOCATOR*|MUSE*|MUTECT*|PINDEL	.	TGGTTTGGCAAG	NONE	.	.	.	.	.	ENSP00000348056	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000355803	Transcript	.	.	ENSG00000103275	12485	1	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBC9_HUMAN	UBE2I	HGNC	H3BRD1_HUMAN,H3BQQ9_HUMAN	.	UPI00000010F8	deletion	UBE2I,3_prime_UTR_variant,,ENST00000406620,;UBE2I,3_prime_UTR_variant,,ENST00000566587,;UBE2I,3_prime_UTR_variant,,ENST00000325437,;UBE2I,3_prime_UTR_variant,,ENST00000397515,;UBE2I,3_prime_UTR_variant,,ENST00000403747,;UBE2I,3_prime_UTR_variant,,ENST00000355803,;UBE2I,3_prime_UTR_variant,,ENST00000397514,;UBE2I,downstream_gene_variant,,ENST00000567074,;UBE2I,downstream_gene_variant,,ENST00000402301,;LA16c-358B7.3,upstream_gene_variant,,ENST00000567829,;LA16c-358B7.3,upstream_gene_variant,,ENST00000568106,;UBE2I,downstream_gene_variant,,ENST00000568209,;UBE2I,downstream_gene_variant,,ENST00000568288,;UBE2I,downstream_gene_variant,,ENST00000566775,;UBE2I,downstream_gene_variant,,ENST00000568989,;RPS20P2,upstream_gene_variant,,ENST00000402520,;	1070	59	47	SUCCESS
ITPRIPL2	162073	.	GRCh37	16	19131852	19131852	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	17	0	ENST00000381440.3:c.*4461A>T			ENST00000381440	NM_001034841.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32395.1	.	MUTECT|MUSE	.	CTCCCAGGTTC	NONE	.	.	.	.	.	ENSP00000370849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381440	Transcript	.	.	ENSG00000205730	27257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IPIL2_HUMAN	ITPRIPL2	HGNC	.	.	UPI000023760C	SNV	ITPRIPL2,3_prime_UTR_variant,,ENST00000381440,;ITPRIPL2,downstream_gene_variant,,ENST00000566735,;RP11-626G11.3,intron_variant,,ENST00000567236,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;	6599	17	14	SUCCESS
C19orf77	0	.	GRCh37	19	3474810	3474810	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	43	0	ENST00000215531.4:c.*31C>G			ENST00000215531	NM_001136503.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45915.1	.	MUTECT|MUSE	.	TCTGGGGGACT	NONE	.	.	.	.	.	ENSP00000215531	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000215531	Transcript	.	.	ENSG00000095932	37244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CS077_HUMAN	C19orf77	HGNC	K7EKM7_HUMAN	.	UPI000015B2DA	SNV	C19orf77,3_prime_UTR_variant,,ENST00000215531,;C19orf77,3_prime_UTR_variant,,ENST00000587847,;C19orf77,3_prime_UTR_variant,,ENST00000591708,;C19orf77,downstream_gene_variant,,ENST00000586804,;	503	43	28	SUCCESS
LILRB1	10859	.	GRCh37	19	55148389	55148389	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs931593747	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	9	48	0	ENST00000324602.7:c.*60C>T			ENST00000324602	NM_001278399.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42614.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCCCCAGT	NONE	.	.	.	.	.	ENSP00000315997	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000324602	Transcript	.	.	ENSG00000104972	6605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRB1_HUMAN	LILRB1	HGNC	.	.	UPI0000034BFC	SNV	LILRB1,3_prime_UTR_variant,,ENST00000396317,;LILRB1,3_prime_UTR_variant,,ENST00000448689,;LILRB1,3_prime_UTR_variant,,ENST00000396331,;LILRB1,3_prime_UTR_variant,,ENST00000396315,;LILRB1,3_prime_UTR_variant,,ENST00000427581,;LILRB1,3_prime_UTR_variant,,ENST00000396327,;LILRB1,3_prime_UTR_variant,,ENST00000418536,;LILRB1,3_prime_UTR_variant,,ENST00000434867,;LILRB1,3_prime_UTR_variant,,ENST00000324602,;LILRB1,3_prime_UTR_variant,,ENST00000396332,;LILRB1,3_prime_UTR_variant,,ENST00000396321,;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	2244	48	33	SUCCESS
CACYBP	27101	.	GRCh37	1	174979524	174979524	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	16	0	ENST00000367679.2:c.*309T>G			ENST00000367679	NM_014412.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1315.1	.	MUTECT|MUSE	.	TATTTTTTGTT	NONE	.	.	.	.	.	ENSP00000356652	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000367679	Transcript	.	.	ENSG00000116161	30423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CYBP_HUMAN	CACYBP	HGNC	B2ZWH1_HUMAN	.	UPI0000032D9C	SNV	CACYBP,3_prime_UTR_variant,,ENST00000367681,;CACYBP,3_prime_UTR_variant,,ENST00000367679,;MRPS14,downstream_gene_variant,,ENST00000476371,;CACYBP,downstream_gene_variant,,ENST00000406752,;CACYBP,downstream_gene_variant,,ENST00000405362,;MRPS14,downstream_gene_variant,,ENST00000498253,;CACYBP,downstream_gene_variant,,ENST00000469173,;MRPS14,downstream_gene_variant,,ENST00000367677,;CACYBP,downstream_gene_variant,,ENST00000473925,;	1444	16	12	SUCCESS
SUSD4	55061	.	GRCh37	1	223395300	223395300	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	11	0	ENST00000343846.3:c.*234G>T			ENST00000343846				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41471.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCCCTGCT	NONE	.	.	.	.	.	ENSP00000344219	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000343846	Transcript	.	.	ENSG00000143502	25470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SUSD4_HUMAN	SUSD4	HGNC	B7Z469_HUMAN	.	UPI0000205CB5	SNV	SUSD4,3_prime_UTR_variant,,ENST00000608996,;SUSD4,3_prime_UTR_variant,,ENST00000343846,;SUSD4,3_prime_UTR_variant,,ENST00000484758,;SUSD4,3_prime_UTR_variant,,ENST00000366878,;SUSD4,intron_variant,,ENST00000494793,;SUSD4,downstream_gene_variant,,ENST00000454695,;SUSD4,non_coding_transcript_exon_variant,,ENST00000478605,;SUSD4,downstream_gene_variant,,ENST00000483818,;	2341	11	20	SUCCESS
C21orf90	0	.	GRCh37	21	45938611	45938611	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	5	94	0	ENST00000330490.3:c.*19A>T			ENST00000330490				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	CTTTCAGGATA	NONE	.	.	.	.	.	ENSP00000333592	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000330490	Transcript	.	.	ENSG00000182912	16428	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CU090_HUMAN	C21orf90	HGNC	.	.	UPI00001286CB	SNV	C21orf90,3_prime_UTR_variant,,ENST00000354333,;C21orf90,3_prime_UTR_variant,,ENST00000330490,;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000323084,;TSPEAR-AS1,downstream_gene_variant,,ENST00000451035,;TSPEAR-AS1,downstream_gene_variant,,ENST00000430181,;C21orf90,intron_variant,,ENST00000465978,;	795	94	65	SUCCESS
PPIL2	23759	.	GRCh37	22	22020270	22020270	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	79	20	124	0				ENST00000335025				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46670.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCGCCCGTT	NONE	.	3	.	.	.	ENSP00000390427	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412327	Transcript	.	.	ENSG00000100023	9261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPIL2_HUMAN	PPIL2	HGNC	.	.	UPI000002A7A2	SNV	PPIL2,upstream_gene_variant,,ENST00000398831,;PPIL2,upstream_gene_variant,,ENST00000412327,;PPIL2,upstream_gene_variant,,ENST00000406385,;PPIL2,upstream_gene_variant,,ENST00000456792,;PPIL2,upstream_gene_variant,,ENST00000492445,;PPIL2,upstream_gene_variant,,ENST00000335025,;PPIL2,upstream_gene_variant,,ENST00000458567,;KB-1440D3.13,downstream_gene_variant,,ENST00000610143,;PPIL2,intron_variant,,ENST00000498589,;PPIL2,upstream_gene_variant,,ENST00000484439,;PPIL2,upstream_gene_variant,,ENST00000496819,;PPIL2,upstream_gene_variant,,ENST00000498109,;PPIL2,upstream_gene_variant,,ENST00000417788,;	.	124	99	SUCCESS
ADRBK2	0	.	GRCh37	22	26118551	26118551	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	34	0	ENST00000324198.6:c.*134G>T			ENST00000324198	NM_005160.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13832.1	.	MUTECT|MUSE	.	CTTCGGCTTGG	NONE	.	.	.	.	.	ENSP00000317578	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000324198	Transcript	.	.	ENSG00000100077	290	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARBK2_HUMAN	ADRBK2	HGNC	Q8N433_HUMAN	.	UPI0000050EDB	SNV	ADRBK2,3_prime_UTR_variant,,ENST00000324198,;	2393	34	17	SUCCESS
TRABD	80305	.	GRCh37	22	50637724	50637724	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	50	0	ENST00000303434.4:c.*776A>T			ENST00000303434	NM_025204.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14086.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCATCTTG	NONE	.	.	.	.	.	ENSP00000305664	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000303434	Transcript	.	.	ENSG00000170638	28805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRABD_HUMAN	TRABD	HGNC	.	.	UPI0000049DAE	SNV	TRABD,3_prime_UTR_variant,,ENST00000395827,;TRABD,3_prime_UTR_variant,,ENST00000303434,;TRABD,3_prime_UTR_variant,,ENST00000395829,;TRABD,3_prime_UTR_variant,,ENST00000380909,;SELO,upstream_gene_variant,,ENST00000380903,;RP3-402G11.26,non_coding_transcript_exon_variant,,ENST00000608025,;TRABD,non_coding_transcript_exon_variant,,ENST00000463233,;TRABD,downstream_gene_variant,,ENST00000472677,;	2026	50	20	SUCCESS
RGPD4	285190	.	GRCh37	2	108507208	108507208	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	648	148	796	1	ENST00000408999.3:c.*21A>T			ENST00000408999	NM_182588.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46381.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGATGGGC	NONE	.	.	.	.	.	ENSP00000386810	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000408999	Transcript	.	.	ENSG00000196862	32417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RGPD4_HUMAN	RGPD4	HGNC	I1Z9D1_HUMAN	.	UPI0000418FF7	SNV	RGPD4,3_prime_UTR_variant,,ENST00000408999,;	5375	797	796	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131673202	131673202	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	145	5	197	0				ENST00000326016	NM_015320.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2165.1	.	MUTECT|MUSE	.	AGCGCAATAGA	NONE	.	1022	.	.	.	ENSP00000316845	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,synonymous_variant,p.%3D,ENST00000409359,;ARHGEF4,upstream_gene_variant,,ENST00000392953,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	.	197	151	SUCCESS
HOXA5	3202	.	GRCh37	7	27181398	27181398	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	95	0	ENST00000222726.3:c.*56A>G			ENST00000222726	NM_019102.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5406.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTAGTACTGA	NONE	.	.	.	.	.	ENSP00000222726	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000222726	Transcript	.	.	ENSG00000106004	5106	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXA5_HUMAN	HOXA5	HGNC	.	.	UPI000006CEBE	SNV	HOXA5,3_prime_UTR_variant,,ENST00000222726,;HOXA3,upstream_gene_variant,,ENST00000522788,;HOXA6,downstream_gene_variant,,ENST00000222728,;HOXA3,upstream_gene_variant,,ENST00000521779,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,upstream_gene_variant,,ENST00000521401,;HOXA6,downstream_gene_variant,,ENST00000521478,;HOXA5,downstream_gene_variant,,ENST00000520854,;	930	95	49	SUCCESS
ZNF107	51427	.	GRCh37	7	64169304	64169304	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	28	0	ENST00000344930.3:c.*270T>A			ENST00000344930	NM_001013746.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5527.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACTAAACA	NONE	.	.	.	.	.	ENSP00000378789	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395391	Transcript	.	.	ENSG00000196247	12887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN107_HUMAN	ZNF107	HGNC	Q9H3U2_HUMAN,C9JSF9_HUMAN	.	UPI000000DBC2	SNV	ZNF107,3_prime_UTR_variant,,ENST00000344930,;ZNF107,3_prime_UTR_variant,,ENST00000395391,;ZNF107,3_prime_UTR_variant,,ENST00000423627,;ZNF107,downstream_gene_variant,,ENST00000360117,;	3997	28	23	SUCCESS
FBXO43	286151	.	GRCh37	8	101145922	101145922	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	64	0	ENST00000428847.2:c.*108A>G			ENST00000428847	NM_001029860.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47904.1	.	MUTECT|MUSE	.	GGAAATTAATC	NONE	.	.	.	.	.	ENSP00000403293	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000428847	Transcript	.	.	ENSG00000156509	28521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX43_HUMAN	FBXO43	HGNC	.	.	UPI000013DE8F	SNV	FBXO43,3_prime_UTR_variant,,ENST00000428847,;RGS22,upstream_gene_variant,,ENST00000520117,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,downstream_gene_variant,,ENST00000520987,;	2552	64	88	SUCCESS
KIAA1456	0	.	GRCh37	8	12881455	12881455	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	106	35	165	0	ENST00000524591.2:c.*1902A>C			ENST00000524591	NM_020844.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47808.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATGAGTTGT	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,non_coding_transcript_exon_variant,,ENST00000529978,;KIAA1456,downstream_gene_variant,,ENST00000529706,;	3756	165	141	SUCCESS
ZNF623	9831	.	GRCh37	8	144735586	144735586	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	382	29	247	0	ENST00000501748.2:c.*1933A>G			ENST00000501748	NM_014789.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34957.1	.	MUTECT|MUSE	.	TTTTAATCAAC	NONE	.	.	.	.	.	ENSP00000445979	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000501748	Transcript	.	.	ENSG00000183309	29084	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN623_HUMAN	ZNF623	HGNC	.	.	UPI00001AF7CB	SNV	ZNF623,3_prime_UTR_variant,,ENST00000501748,;ZNF623,downstream_gene_variant,,ENST00000458270,;ZNF623,downstream_gene_variant,,ENST00000526926,;	3633	247	412	SUCCESS
PIR	8544	.	GRCh37	X	15402960	15402960	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	36	0	ENST00000380420.5:c.*166T>A			ENST00000380420				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14167.1	.	MUTECT|MUSE	.	GTGCCAGGAAA	NONE	.	.	.	.	.	ENSP00000369786	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000380421	Transcript	.	.	ENSG00000087842	30048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PIR_HUMAN	PIR	HGNC	.	.	UPI0000049C30	SNV	PIR,3_prime_UTR_variant,,ENST00000380421,;PIR,3_prime_UTR_variant,,ENST00000380420,;FIGF,upstream_gene_variant,,ENST00000297904,;PIR,non_coding_transcript_exon_variant,,ENST00000492432,;	1500	36	29	SUCCESS
WDR13	64743	.	GRCh37	X	48463454	48463454	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs782117938	.	TCGA-DD-AAD1-01	TCGA-DD-AAD1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	78	20	124	0	ENST00000218056.5:c.*34A>T			ENST00000218056	NM_001166426.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCACCCCT	NONE	.	.	.	.	.	ENSP00000218056	.	9/9	.	.	.	.	.	.	.	.	rs782117938	9/9	PASS	ENST00000218056	Transcript	.	.	ENSG00000101940	14352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR13_HUMAN	WDR13	HGNC	.	.	UPI00001AE60C	SNV	WDR13,3_prime_UTR_variant,,ENST00000218056,;WDR13,3_prime_UTR_variant,,ENST00000376729,;WDR13,non_coding_transcript_exon_variant,,ENST00000492873,;WDR13,non_coding_transcript_exon_variant,,ENST00000479279,;WDR13,downstream_gene_variant,,ENST00000466962,;WDR13,downstream_gene_variant,,ENST00000482760,;WDR13,downstream_gene_variant,,ENST00000497756,;WDR13,downstream_gene_variant,,ENST00000495575,;WDR13,downstream_gene_variant,,ENST00000471334,;WDR13,downstream_gene_variant,,ENST00000498631,;WDR13,downstream_gene_variant,,ENST00000492715,;	1997	125	99	SUCCESS
PSTK	118672	.	GRCh37	10	124749710	124749710	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	284	70	430	0	ENST00000368887.3:c.*22A>G			ENST00000368887	NM_153336.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7633.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACAACTTG	NONE	.	.	.	.	.	ENSP00000357882	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368887	Transcript	.	.	ENSG00000179988	28578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSTK_HUMAN	PSTK	HGNC	.	.	UPI000013F992	SNV	PSTK,missense_variant,p.Asn301Asp,ENST00000406217,;PSTK,3_prime_UTR_variant,,ENST00000368887,;PSTK,3_prime_UTR_variant,,ENST00000405485,;IKZF5,downstream_gene_variant,,ENST00000368886,;PSTK,non_coding_transcript_exon_variant,,ENST00000496079,;PSTK,non_coding_transcript_exon_variant,,ENST00000483455,;PSTK,non_coding_transcript_exon_variant,,ENST00000497219,;PSTK,non_coding_transcript_exon_variant,,ENST00000483755,;PSTK,non_coding_transcript_exon_variant,,ENST00000465232,;PSTK,downstream_gene_variant,,ENST00000493461,;	1509	430	355	SUCCESS
MRGPRX2	117194	.	GRCh37	11	19076855	19076855	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	28	0	ENST00000329773.2:c.*102C>A			ENST00000329773	NM_054030.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7847.1	.	MUTECT|MUSE	.	TAACTGTTTTA	NONE	.	.	.	.	.	ENSP00000333800	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329773	Transcript	.	.	ENSG00000183695	17983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MRGX2_HUMAN	MRGPRX2	HGNC	.	.	UPI0000038C81	SNV	MRGPRX2,3_prime_UTR_variant,,ENST00000329773,;	1183	28	25	SUCCESS
TRMT5	57570	.	GRCh37	14	61441713	61441736	+	3_prime_UTR_variant	3'UTR	DEL	AGGCAAAGTACAAGGGTTCAATAG	AGGCAAAGTACAAGGGTTCAATAG	CGGCAA	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	AGGCAAAGTACAAGGGTTCAATAG	AGGCAAAGTACAAGGGTTCAATAG	.	.	.	.	.	.	.	.	.	.	.	.	.	83	26	133	0	ENST00000261249.6:c.*91_*114delinsTTGCCG			ENST00000261249	NM_020810.2			0	.	.	.	.	.	CGGCAA	.	protein_coding	YES	CCDS32092.1	.	INDELOCATOR*|MUSE*|MUTECT*|VARSCANI*|PINDEL	.	AAAATAAGGCAAAGTACAAGGGTTCAATAGTAAAA	NONE	.	.	.	.	.	ENSP00000261249	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000261249	Transcript	.	.	ENSG00000126814	23141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRM5_HUMAN	TRMT5	HGNC	.	.	UPI000016003D	substitution	TRMT5,3_prime_UTR_variant,,ENST00000261249,;TRMT5,downstream_gene_variant,,ENST00000555420,;TRMT5,downstream_gene_variant,,ENST00000553903,;RNU6-398P,downstream_gene_variant,,ENST00000384143,;RP11-193F5.1,intron_variant,,ENST00000553946,;RP11-193F5.4,upstream_gene_variant,,ENST00000556317,;	2006-2029	133	109	SUCCESS
DUOX1	53905	.	GRCh37	15	45457174	45457174	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	45	0	ENST00000321429.4:c.*75A>G			ENST00000321429	NM_017434.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32221.1	.	MUTECT|MUSE|VARSCANS	.	TTCCTATTTCT	NONE	.	.	.	.	.	ENSP00000317997	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000321429	Transcript	.	.	ENSG00000137857	3062	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DUOX1_HUMAN	DUOX1	HGNC	H0YNR5_HUMAN	.	UPI000006E50E	SNV	DUOX1,3_prime_UTR_variant,,ENST00000389037,;DUOX1,3_prime_UTR_variant,,ENST00000561166,;DUOX1,3_prime_UTR_variant,,ENST00000321429,;SHF,downstream_gene_variant,,ENST00000558294,;SHF,downstream_gene_variant,,ENST00000560734,;SHF,downstream_gene_variant,,ENST00000318390,;SHF,downstream_gene_variant,,ENST00000560540,;SHF,downstream_gene_variant,,ENST00000458022,;SHF,downstream_gene_variant,,ENST00000290894,;CTD-2651B20.1,intron_variant,,ENST00000558039,;DUOX1,downstream_gene_variant,,ENST00000561220,;DUOX1,downstream_gene_variant,,ENST00000559716,;	5138	45	33	SUCCESS
ETFA	2108	.	GRCh37	15	76508755	76508755	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	33	0	ENST00000557943.1:c.*145G>T			ENST00000557943	NM_000126.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32299.1	.	MUTECT|MUSE	.	ACAAGCATTCT	NONE	.	.	.	.	.	ENSP00000452762	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000557943	Transcript	1	.	ENSG00000140374	3481	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ETFA_HUMAN	ETFA	HGNC	H0YL83_HUMAN	.	UPI0000001BC8	SNV	ETFA,3_prime_UTR_variant,,ENST00000433983,;ETFA,3_prime_UTR_variant,,ENST00000557943,;ETFA,downstream_gene_variant,,ENST00000560726,;ETFA,downstream_gene_variant,,ENST00000559602,;ETFA,downstream_gene_variant,,ENST00000560595,;ETFA,downstream_gene_variant,,ENST00000559973,;ETFA,3_prime_UTR_variant,,ENST00000267950,;ETFA,3_prime_UTR_variant,,ENST00000565910,;ETFA,non_coding_transcript_exon_variant,,ENST00000557975,;C15orf27,intron_variant,,ENST00000561302,;ETFA,downstream_gene_variant,,ENST00000560179,;	1228	33	18	SUCCESS
PLCD3	113026	.	GRCh37	17	43189858	43189858	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	28	0	ENST00000322765.5:c.*126C>A			ENST00000322765	NM_133373.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATGGGCTGAG	NONE	.	.	.	.	.	ENSP00000313731	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000322765	Transcript	.	.	ENSG00000161714	9061	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLCD3_HUMAN	PLCD3	HGNC	.	.	UPI00015DFB4E	SNV	PLCD3,3_prime_UTR_variant,,ENST00000539433,;PLCD3,3_prime_UTR_variant,,ENST00000322765,;NMT1,downstream_gene_variant,,ENST00000592782,;NMT1,downstream_gene_variant,,ENST00000258960,;PLCD3,non_coding_transcript_exon_variant,,ENST00000540511,;PLCD3,non_coding_transcript_exon_variant,,ENST00000543623,;NMT1,downstream_gene_variant,,ENST00000587120,;NMT1,downstream_gene_variant,,ENST00000587670,;PLCD3,downstream_gene_variant,,ENST00000545702,;PLCD3,downstream_gene_variant,,ENST00000544333,;PLCD3,downstream_gene_variant,,ENST00000412978,;	2607	28	26	SUCCESS
SUGP2	10147	.	GRCh37	19	19105104	19105104	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	50	0	ENST00000337018.6:c.*71C>T			ENST00000337018	NM_014884.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12392.1	.	MUTECT|MUSE	.	TTGTTGGGGGA	NONE	.	.	.	.	.	ENSP00000472286	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000601879	Transcript	.	.	ENSG00000064607	18641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUGP2_HUMAN	SUGP2	HGNC	M0R065_HUMAN	.	UPI000019825D	SNV	SUGP2,3_prime_UTR_variant,,ENST00000601879,;SUGP2,3_prime_UTR_variant,,ENST00000600377,;SUGP2,intron_variant,,ENST00000452918,;SUGP2,intron_variant,,ENST00000337018,;SUGP2,downstream_gene_variant,,ENST00000456085,;AC004447.2,downstream_gene_variant,,ENST00000594142,;SUGP2,upstream_gene_variant,,ENST00000597095,;SUGP2,upstream_gene_variant,,ENST00000597163,;SUGP2,upstream_gene_variant,,ENST00000598863,;SUGP2,intron_variant,,ENST00000330854,;SUGP2,intron_variant,,ENST00000593795,;SUGP2,intron_variant,,ENST00000594773,;SUGP2,intron_variant,,ENST00000597280,;SUGP2,intron_variant,,ENST00000600239,;SUGP2,downstream_gene_variant,,ENST00000598240,;	3618	50	44	SUCCESS
NOL9	79707	.	GRCh37	1	6585784	6585784	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	37	0	ENST00000377705.5:c.*130A>G			ENST00000377705	NM_024654.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS80.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGAATTACAC	NONE	.	.	.	.	.	ENSP00000366934	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000377705	Transcript	.	.	ENSG00000162408	26265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL9_HUMAN	NOL9	HGNC	.	.	UPI00003664C8	SNV	NOL9,3_prime_UTR_variant,,ENST00000377705,;	2272	37	23	SUCCESS
ACKR3	57007	.	GRCh37	2	237490371	237490371	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs760993497	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	4	58	0	ENST00000272928.3:c.*174A>G			ENST00000272928	NM_020311.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2516.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGTCATTTGG	NONE	.	.	.	.	.	ENSP00000272928	.	2/2	.	.	.	.	.	.	.	.	rs760993497	2/2	PASS	ENST00000272928	Transcript	.	.	ENSG00000144476	23692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACKR3_HUMAN	ACKR3	HGNC	.	.	UPI000013D989	SNV	ACKR3,3_prime_UTR_variant,,ENST00000272928,;ACKR3,downstream_gene_variant,,ENST00000447924,;	1573	58	44	SUCCESS
BRF2	55290	.	GRCh37	8	37702006	37702006	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	128	46	256	0	ENST00000220659.6:c.*2G>T			ENST00000220659	NM_018310.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6098.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATCCATCAG	NONE	.	.	.	.	.	ENSP00000220659	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220659	Transcript	.	.	ENSG00000104221	17298	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BRF2_HUMAN	BRF2	HGNC	.	.	UPI000006D405	SNV	BRF2,3_prime_UTR_variant,,ENST00000220659,;GPR124,3_prime_UTR_variant,,ENST00000315215,;BRF2,downstream_gene_variant,,ENST00000521170,;GPR124,downstream_gene_variant,,ENST00000412232,;BRF2,downstream_gene_variant,,ENST00000520601,;BRF2,downstream_gene_variant,,ENST00000522539,;	1383	257	174	SUCCESS
ANK1	286	.	GRCh37	8	41513192	41513192	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs575900279	.	TCGA-DD-AAD2-01	TCGA-DD-AAD2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	44	0	ENST00000347528.4:c.*54G>T			ENST00000347528	NM_020477.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS47849.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCTGCGGTGG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000265709	T:0	43/43	.	.	.	.	.	.	.	.	rs575900279	43/43	PASS	ENST00000265709	Transcript	1	T:0.0004	ENSG00000029534	492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	ANK1_HUMAN	ANK1	HGNC	Q9UMG4_HUMAN	.	UPI0000E4453A	SNV	ANK1,3_prime_UTR_variant,,ENST00000265709,;ANK1,3_prime_UTR_variant,,ENST00000314214,;ANK1,3_prime_UTR_variant,,ENST00000289734,;ANK1,3_prime_UTR_variant,,ENST00000347528,;ANK1,3_prime_UTR_variant,,ENST00000520299,;ANK1,3_prime_UTR_variant,,ENST00000457297,;ANK1,3_prime_UTR_variant,,ENST00000352337,;ANK1,3_prime_UTR_variant,,ENST00000522231,;ANK1,3_prime_UTR_variant,,ENST00000379758,;ANK1,3_prime_UTR_variant,,ENST00000396942,;ANK1,3_prime_UTR_variant,,ENST00000522543,;ANK1,3_prime_UTR_variant,,ENST00000396945,;ANK1,downstream_gene_variant,,ENST00000348036,;NKX6-3,upstream_gene_variant,,ENST00000518699,;MIR486,upstream_gene_variant,,ENST00000408108,;	6030	44	57	SUCCESS
CLRN3	119467	.	GRCh37	10	129676289	129676289	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	32	0	ENST00000368671.3:c.*124C>T			ENST00000368671	NM_152311.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7656.1	.	MUTECT|MUSE	.	GTCATGAAACA	NONE	.	.	.	.	.	ENSP00000357660	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368671	Transcript	.	.	ENSG00000180745	20795	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLRN3_HUMAN	CLRN3	HGNC	.	.	UPI00000701B3	SNV	CLRN3,3_prime_UTR_variant,,ENST00000368671,;	968	32	23	SUCCESS
PPP1R3C	5507	.	GRCh37	10	93389592	93389592	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	36	0	ENST00000238994.5:c.*92C>G			ENST00000238994	NM_005398.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7416.1	.	MUTECT|MUSE	.	TGATGGAGTAG	NONE	.	.	.	.	.	ENSP00000238994	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000238994	Transcript	.	.	ENSG00000119938	9293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPR3C_HUMAN	PPP1R3C	HGNC	B4DRR5_HUMAN	.	UPI000006EFF1	SNV	PPP1R3C,3_prime_UTR_variant,,ENST00000238994,;	1131	36	17	SUCCESS
PEAK1	79834	.	GRCh37	15	77406468	77406468	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	6	126	0	ENST00000312493.4:c.*30C>T			ENST00000312493	NM_024776.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42062.1	.	MUTECT|MUSE	.	GTGAAGATGTA	NONE	.	.	.	.	.	ENSP00000452796	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000560626	Transcript	.	.	ENSG00000173517	29431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEAK1_HUMAN	PEAK1	HGNC	H3BUZ5_HUMAN,H3BUE6_HUMAN	.	UPI00002378D0	SNV	PEAK1,3_prime_UTR_variant,,ENST00000560626,;PEAK1,3_prime_UTR_variant,,ENST00000312493,;	5747	126	100	SUCCESS
HBQ1	3049	.	GRCh37	16	227353	227353	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	214	16	268	0				ENST00000199708	NM_005331.4	124		0	.	.	.	.	.	T	A	protein_coding	YES	CCDS10399.1	372	MUTECT|MUSE	.	CACGCCTCCCT	NONE	.	.	PROSITE_profiles:PS01033,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF41,Gene3D:1.10.490.10,Superfamily_domains:SSF46458,Prints_domain:PR00612	.	.	ENSP00000322421	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000320868	Transcript	.	.	ENSG00000206172	4823	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HBA_HUMAN	HBA1	HGNC	D1MGQ2_HUMAN,Q7Z6G4_HUMAN,P78461_HUMAN,G3V1N2_HUMAN	.	UPI0000000239	SNV	HBA1,synonymous_variant,p.%3D,ENST00000320868,;HBA1,synonymous_variant,p.%3D,ENST00000397797,;HBA2,downstream_gene_variant,,ENST00000397806,;HBA2,downstream_gene_variant,,ENST00000251595,;HBQ1,upstream_gene_variant,,ENST00000199708,;Y_RNA,upstream_gene_variant,,ENST00000384514,;HBA1,non_coding_transcript_exon_variant,,ENST00000472694,;HBA2,downstream_gene_variant,,ENST00000482565,;HBA2,downstream_gene_variant,,ENST00000484216,;HBA1,downstream_gene_variant,,ENST00000487791,;	409	268	230	SUCCESS
CIB3	117286	.	GRCh37	19	16268237	16268237	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs1426993225	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	47	205	0				ENST00000269878	NM_054113.2			0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTGTCGTCA	NONE	.	1766	.	.	.	ENSP00000442140	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000535834	Transcript	.	.	ENSG00000196684	24920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSH2D	HGNC	B4DT26_HUMAN	.	UPI00017A7AD4	SNV	HSH2D,missense_variant,p.Val231Asp,ENST00000593154,;HSH2D,missense_variant,p.Val231Asp,ENST00000588246,;HSH2D,missense_variant,p.Ser141Thr,ENST00000397372,;HSH2D,missense_variant,p.Ser231Thr,ENST00000253680,;HSH2D,downstream_gene_variant,,ENST00000593031,;CIB3,downstream_gene_variant,,ENST00000379859,;CIB3,downstream_gene_variant,,ENST00000269878,;CIB3,downstream_gene_variant,,ENST00000541493,;HSH2D,3_prime_UTR_variant,,ENST00000587963,;HSH2D,3_prime_UTR_variant,,ENST00000589463,;HSH2D,downstream_gene_variant,,ENST00000535834,;HSH2D,downstream_gene_variant,,ENST00000591154,;CIB3,downstream_gene_variant,,ENST00000597251,;HSH2D,downstream_gene_variant,,ENST00000586872,;	.	205	135	SUCCESS
NBPF6	653149	.	GRCh37	1	109010228	109010228	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	603	121	875	0	ENST00000294652.8:c.*1083C>T			ENST00000294652		606		0	.	.	.	.	.	T	P/S	protein_coding	YES	CCDS44184.1	1816	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACTCCCGTTC	NONE	.	.	hmmpanther:PTHR14199:SF13,hmmpanther:PTHR14199	.	.	ENSP00000402703	.	14/15	.	.	.	.	.	.	.	.	.	14/15	PASS	ENST00000444143	Transcript	.	.	ENSG00000186086	31988	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.65)	.	NBPF6_HUMAN	NBPF6	HGNC	.	.	UPI0000160A67	SNV	NBPF6,missense_variant,p.Pro606Ser,ENST00000495380,;NBPF6,missense_variant,p.Pro606Ser,ENST00000444143,;NBPF6,missense_variant,p.Pro635Ser,ENST00000370040,;NBPF6,3_prime_UTR_variant,,ENST00000294652,;NBPF6,downstream_gene_variant,,ENST00000531446,;	2034	875	725	SUCCESS
COPA	1314	.	GRCh37	1	160259858	160259858	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1376278759	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	32	76	0	ENST00000241704.7:c.*89A>G			ENST00000241704	NM_004371.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41424.1	.	RADIA|MUTECT|MUSE	.	GTAGCTGCAGG	NONE	.	.	.	.	.	ENSP00000357048	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,3_prime_UTR_variant,,ENST00000368069,;COPA,3_prime_UTR_variant,,ENST00000241704,;DCAF8,upstream_gene_variant,,ENST00000608310,;PEX19,upstream_gene_variant,,ENST00000440949,;PEX19,upstream_gene_variant,,ENST00000368072,;DCAF8,upstream_gene_variant,,ENST00000556710,;PEX19,upstream_gene_variant,,ENST00000533699,;PEX19,upstream_gene_variant,,ENST00000532508,;PEX19,upstream_gene_variant,,ENST00000533104,;PEX19,upstream_gene_variant,,ENST00000472750,;COPA,downstream_gene_variant,,ENST00000545284,;PEX19,upstream_gene_variant,,ENST00000524939,;PEX19,upstream_gene_variant,,ENST00000532643,;	3869	76	82	SUCCESS
COPA	1314	.	GRCh37	1	160259901	160259901	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	109	0	ENST00000241704.7:c.*46A>G			ENST00000241704	NM_004371.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41424.1	.	RADIA|MUTECT|MUSE	.	CATTCTCTGGG	NONE	.	.	.	.	.	ENSP00000357048	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000368069	Transcript	.	.	ENSG00000122218	2230	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	COPA_HUMAN	COPA	HGNC	.	.	UPI0000074301	SNV	COPA,3_prime_UTR_variant,,ENST00000368069,;COPA,3_prime_UTR_variant,,ENST00000241704,;DCAF8,upstream_gene_variant,,ENST00000608310,;PEX19,upstream_gene_variant,,ENST00000440949,;PEX19,upstream_gene_variant,,ENST00000368072,;DCAF8,upstream_gene_variant,,ENST00000556710,;PEX19,upstream_gene_variant,,ENST00000533699,;PEX19,upstream_gene_variant,,ENST00000533104,;PEX19,upstream_gene_variant,,ENST00000472750,;COPA,downstream_gene_variant,,ENST00000545284,;PEX19,upstream_gene_variant,,ENST00000524939,;PEX19,upstream_gene_variant,,ENST00000532643,;	3826	109	118	SUCCESS
SLC45A3	85414	.	GRCh37	1	205628256	205628256	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	54	0	ENST00000367145.3:c.*106G>T			ENST00000367145	NM_033102.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1458.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTGGCAGCAA	NONE	.	.	.	.	.	ENSP00000356113	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367145	Transcript	.	.	ENSG00000158715	8642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S45A3_HUMAN	SLC45A3	HGNC	Q658X7_HUMAN,A8K2U9_HUMAN	.	UPI0000039836	SNV	SLC45A3,3_prime_UTR_variant,,ENST00000367145,;SLC45A3,non_coding_transcript_exon_variant,,ENST00000460934,;	2064	54	72	SUCCESS
BLOC1S4	55330	.	GRCh37	4	6718870	6718870	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	18	79	0	ENST00000320776.3:c.*280G>A			ENST00000320776	NM_018366.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3393.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGGGACT	NONE	.	.	.	.	.	ENSP00000318128	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320776	Transcript	.	.	ENSG00000186222	24206	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BL1S4_HUMAN	BLOC1S4	HGNC	.	.	UPI0000073D20	SNV	BLOC1S4,3_prime_UTR_variant,,ENST00000320776,;	1029	79	74	SUCCESS
PLN	5350	.	GRCh37	6	118881002	118881002	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1197217616	.	TCGA-DD-AAD3-01	TCGA-DD-AAD3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	164	328	0	ENST00000357525.5:c.*759T>C			ENST00000357525	NM_002667.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTAATATGTG	NONE	.	.	.	.	.	ENSP00000350132	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357525	Transcript	.	.	ENSG00000198523	9080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPLA_HUMAN	PLN	HGNC	Q5R352_HUMAN	.	UPI0000113623	SNV	PLN,3_prime_UTR_variant,,ENST00000357525,;CEP85L,intron_variant,,ENST00000434604,;CEP85L,intron_variant,,ENST00000360290,;CEP85L,intron_variant,,ENST00000419517,;CEP85L,intron_variant,,ENST00000392500,;CEP85L,intron_variant,,ENST00000368488,;CEP85L,intron_variant,,ENST00000368491,;	1110	328	288	SUCCESS
NANOS1	340719	.	GRCh37	10	120790887	120790887	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	196	0	ENST00000425699.1:c.*695T>C			ENST00000425699	NM_199461.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7607.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATGTACC	NONE	.	.	.	.	.	ENSP00000393275	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000425699	Transcript	1	.	ENSG00000188613	23044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANO1_HUMAN	NANOS1	HGNC	Q5T9H5_HUMAN	.	UPI00001D68E9	SNV	NANOS1,3_prime_UTR_variant,,ENST00000340087,;NANOS1,3_prime_UTR_variant,,ENST00000425699,;EIF3A,downstream_gene_variant,,ENST00000541549,;EIF3A,downstream_gene_variant,,ENST00000369144,;	1660	196	119	SUCCESS
C11orf58	10944	.	GRCh37	11	16776719	16776719	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	12	41	0	ENST00000228136.4:c.*68T>G			ENST00000228136				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7822.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTTATAGA	NONE	.	.	.	.	.	ENSP00000228136	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228136	Transcript	.	.	ENSG00000110696	16990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMAP_HUMAN	C11orf58	HGNC	E3W975_HUMAN	.	UPI000006FA0C	SNV	C11orf58,3_prime_UTR_variant,,ENST00000228136,;C11orf58,3_prime_UTR_variant,,ENST00000422258,;C11orf58,downstream_gene_variant,,ENST00000528634,;C11orf58,downstream_gene_variant,,ENST00000524439,;C11orf58,downstream_gene_variant,,ENST00000525684,;C11orf58,upstream_gene_variant,,ENST00000524508,;C11orf58,non_coding_transcript_exon_variant,,ENST00000531658,;C11orf58,non_coding_transcript_exon_variant,,ENST00000524461,;	998	41	44	SUCCESS
BEST1	7439	.	GRCh37	11	61731676	61731676	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	33	0	ENST00000378043.4:c.*82T>C			ENST00000378043	NM_004183.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44623.1	.	MUTECT|MUSE	.	AGCCATACAGC	NONE	.	.	.	.	.	ENSP00000399709	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000449131	Transcript	.	.	ENSG00000167995	12703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BEST1_HUMAN	BEST1	HGNC	G8JLA7_HUMAN	.	UPI0000232791	SNV	BEST1,3_prime_UTR_variant,,ENST00000378042,;BEST1,3_prime_UTR_variant,,ENST00000378043,;BEST1,3_prime_UTR_variant,,ENST00000449131,;FTH1,intron_variant,,ENST00000529191,;FTH1,intron_variant,,ENST00000529631,;FTH1,intron_variant,,ENST00000530019,;FTH1,downstream_gene_variant,,ENST00000529548,;FTH1,downstream_gene_variant,,ENST00000532601,;FTH1,downstream_gene_variant,,ENST00000526640,;BEST1,downstream_gene_variant,,ENST00000435278,;FTH1,downstream_gene_variant,,ENST00000273550,;BEST1,downstream_gene_variant,,ENST00000534553,;AP003733.1,upstream_gene_variant,,ENST00000601917,;BEST1,downstream_gene_variant,,ENST00000526988,;BEST1,downstream_gene_variant,,ENST00000301774,;BEST1,3_prime_UTR_variant,,ENST00000524926,;BEST1,non_coding_transcript_exon_variant,,ENST00000524877,;FTH1,downstream_gene_variant,,ENST00000534719,;FTH1,downstream_gene_variant,,ENST00000532829,;FTH1,downstream_gene_variant,,ENST00000533138,;FTH1,downstream_gene_variant,,ENST00000534180,;	2956	33	22	SUCCESS
PLEKHG7	440107	.	GRCh37	12	93164070	93164070	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	48	138	0	ENST00000344636.3:c.*99A>T			ENST00000344636	NM_001004330.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31873.1	.	MUTECT|MUSE	.	GAAGGAAATTT	NONE	.	.	.	.	.	ENSP00000344961	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000344636	Transcript	.	.	ENSG00000187510	33829	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHG7_HUMAN	PLEKHG7	HGNC	.	.	UPI00001C1015	SNV	PLEKHG7,3_prime_UTR_variant,,ENST00000344636,;EEA1,downstream_gene_variant,,ENST00000322349,;	1423	138	127	SUCCESS
PLEKHG7	440107	.	GRCh37	12	93164074	93164074	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	135	0	ENST00000344636.3:c.*103T>A			ENST00000344636	NM_001004330.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31873.1	.	MUTECT|MUSE	.	GAAATTTGCAT	NONE	.	.	.	.	.	ENSP00000344961	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000344636	Transcript	.	.	ENSG00000187510	33829	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHG7_HUMAN	PLEKHG7	HGNC	.	.	UPI00001C1015	SNV	PLEKHG7,3_prime_UTR_variant,,ENST00000344636,;EEA1,downstream_gene_variant,,ENST00000322349,;	1427	135	123	SUCCESS
DDX19B	11269	.	GRCh37	16	70367537	70367537	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	12	177	0	ENST00000288071.6:c.*52A>T			ENST00000288071	NM_007242.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10888.1	.	MUTECT|MUSE|VARSCANS	.	AGGAGACAAGT	NONE	.	.	.	.	.	ENSP00000288071	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000288071	Transcript	.	.	ENSG00000157349	2742	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DD19B_HUMAN	DDX19B	HGNC	Q2NL95_HUMAN,H3BN59_HUMAN,B4DL69_HUMAN	.	UPI000012907F	SNV	DDX19B,3_prime_UTR_variant,,ENST00000451014,;DDX19B,3_prime_UTR_variant,,ENST00000393657,;DDX19B,3_prime_UTR_variant,,ENST00000355992,;DDX19B,3_prime_UTR_variant,,ENST00000568625,;DDX19B,3_prime_UTR_variant,,ENST00000563206,;DDX19B,3_prime_UTR_variant,,ENST00000563392,;DDX19B,3_prime_UTR_variant,,ENST00000288071,;RP11-529K1.3,intron_variant,,ENST00000567706,;DDX19B,downstream_gene_variant,,ENST00000566216,;RP11-529K1.2,intron_variant,,ENST00000562077,;DDX19B,3_prime_UTR_variant,,ENST00000562519,;RP11-529K1.3,intron_variant,,ENST00000565116,;RP11-529K1.2,downstream_gene_variant,,ENST00000570278,;DDX19B,downstream_gene_variant,,ENST00000568408,;DDX19B,downstream_gene_variant,,ENST00000568008,;	1737	178	151	SUCCESS
DLGAP1	9229	.	GRCh37	18	3499038	3499038	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	15	0	ENST00000315677.3:c.*145G>A			ENST00000315677	NM_004746.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11836.1	.	RADIA|MUTECT|MUSE	.	GGCTCCTGCGA	NONE	.	.	.	.	.	ENSP00000316377	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000315677	Transcript	.	.	ENSG00000170579	2905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DLGP1_HUMAN	DLGAP1	HGNC	.	.	UPI0000129490	SNV	DLGAP1,3_prime_UTR_variant,,ENST00000315677,;DLGAP1,3_prime_UTR_variant,,ENST00000400149,;DLGAP1,3_prime_UTR_variant,,ENST00000584874,;DLGAP1,3_prime_UTR_variant,,ENST00000400150,;DLGAP1,3_prime_UTR_variant,,ENST00000400155,;DLGAP1,3_prime_UTR_variant,,ENST00000400147,;DLGAP1,3_prime_UTR_variant,,ENST00000539435,;DLGAP1,3_prime_UTR_variant,,ENST00000534970,;DLGAP1,3_prime_UTR_variant,,ENST00000581699,;DLGAP1,downstream_gene_variant,,ENST00000581527,;DLGAP1,downstream_gene_variant,,ENST00000400145,;DLGAP1,downstream_gene_variant,,ENST00000515196,;	3675	15	10	SUCCESS
ZNF607	84775	.	GRCh37	19	38187639	38187639	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs190696083	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	15	0	ENST00000355202.4:c.*1302C>T			ENST00000355202	NM_032689.4			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS33006.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCCGTCCCC	NONE	byCluster|by1000G	.	.	A:0.001	.	ENSP00000347338	A:0	5/5	.	.	.	.	.	.	.	.	rs190696083	5/5	PASS	ENST00000355202	Transcript	.	A:0.0002	ENSG00000198182	28192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	ZN607_HUMAN	ZNF607	HGNC	Q59G67_HUMAN,K7EN48_HUMAN	.	UPI000040BC07	SNV	ZNF607,3_prime_UTR_variant,,ENST00000395835,;ZNF607,3_prime_UTR_variant,,ENST00000355202,;ZNF607,downstream_gene_variant,,ENST00000590670,;ZNF781,upstream_gene_variant,,ENST00000358582,;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF781,upstream_gene_variant,,ENST00000590008,;ZFP30,upstream_gene_variant,,ENST00000587199,;ZFP30,upstream_gene_variant,,ENST00000586732,;ZNF781,upstream_gene_variant,,ENST00000593040,;ZFP30,upstream_gene_variant,,ENST00000589676,;ZNF781,upstream_gene_variant,,ENST00000585624,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;CTD-2528L19.3,upstream_gene_variant,,ENST00000589357,;	3989	15	18	SUCCESS
SOCS5	9655	.	GRCh37	2	46988436	46988436	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	32	144	0	ENST00000306503.5:c.*1156G>T			ENST00000306503	NM_014011.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1830.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAAGTTCTA	NONE	.	.	.	.	.	ENSP00000305133	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306503	Transcript	.	.	ENSG00000171150	16852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS5_HUMAN	SOCS5	HGNC	B4DL10_HUMAN	.	UPI0000135B69	SNV	SOCS5,3_prime_UTR_variant,,ENST00000394861,;SOCS5,3_prime_UTR_variant,,ENST00000306503,;	2939	144	96	SUCCESS
PELI1	57162	.	GRCh37	2	64321687	64321687	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	36	0	ENST00000358912.4:c.*149A>G			ENST00000358912	NM_020651.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1876.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAAATTGCTA	NONE	.	.	.	.	.	ENSP00000351789	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000358912	Transcript	.	.	ENSG00000197329	8827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PELI1_HUMAN	PELI1	HGNC	Q53T26_HUMAN	.	UPI00000443B7	SNV	PELI1,3_prime_UTR_variant,,ENST00000358912,;	1849	36	29	SUCCESS
SLC9A9	285195	.	GRCh37	3	142985470	142985470	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	38	0	ENST00000316549.6:c.*74C>A			ENST00000316549	NM_173653.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33872.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTACTGCCTCA	NONE	.	.	.	.	.	ENSP00000320246	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000316549	Transcript	.	.	ENSG00000181804	20653	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SL9A9_HUMAN	SLC9A9	HGNC	.	.	UPI0000074664	SNV	SLC9A9,3_prime_UTR_variant,,ENST00000316549,;	2221	38	37	SUCCESS
PMPCB	9512	.	GRCh37	7	102953297	102953297	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	23	52	0	ENST00000249269.4:c.*579A>C			ENST00000249269	NM_004279.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5730.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGCACTATA	NONE	.	.	.	.	.	ENSP00000249269	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,3_prime_UTR_variant,,ENST00000249269,;DNAJC2,intron_variant,,ENST00000249270,;DNAJC2,intron_variant,,ENST00000379263,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,intron_variant,,ENST00000464253,;DNAJC2,intron_variant,,ENST00000475065,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	2087	52	58	SUCCESS
TMEM140	55281	.	GRCh37	7	134850090	134850090	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	43	0	ENST00000275767.3:c.*339C>T			ENST00000275767	NM_018295.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5837.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGTCATGGG	NONE	.	.	.	.	.	ENSP00000275767	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000275767	Transcript	.	.	ENSG00000146859	21870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM140_HUMAN	TMEM140	HGNC	.	.	UPI000045760C	SNV	TMEM140,3_prime_UTR_variant,,ENST00000275767,;C7orf49,downstream_gene_variant,,ENST00000424142,;C7orf49,downstream_gene_variant,,ENST00000430372,;C7orf49,downstream_gene_variant,,ENST00000393114,;C7orf49,downstream_gene_variant,,ENST00000483029,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000477820,;C7orf49,downstream_gene_variant,,ENST00000472428,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;C7orf49,downstream_gene_variant,,ENST00000481410,;	1120	43	44	SUCCESS
HAUS6	54801	.	GRCh37	9	19056319	19056319	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs961957451	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	47	0	ENST00000380502.3:c.*22C>G			ENST00000380502	NM_017645.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6489.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATAGTTATA	NONE	.	.	.	.	.	ENSP00000369871	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000380502	Transcript	.	.	ENSG00000147874	25948	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAUS6_HUMAN	HAUS6	HGNC	Q5SYF9_HUMAN	.	UPI00000740C7	SNV	HAUS6,3_prime_UTR_variant,,ENST00000380502,;HAUS6,downstream_gene_variant,,ENST00000415524,;HAUS6,downstream_gene_variant,,ENST00000380496,;	3358	47	29	SUCCESS
CDKN2B-AS1	100048912	.	GRCh37	9	21994138	21994138	+	upstream_gene_variant	5'Flank	SNP	C	C	G	.	.	TCGA-DD-AAD5-01	TCGA-DD-AAD5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	46	0				ENST00000428597		106		0	.	.	.	.	.	G	.	sense_intronic	YES	.	.	MUTECT|MUSE	.	CCTACCTGGTC	NONE	.	1343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	CM112062,CM112061,CS021185,COSM753724	.	PASS	ENST00000578935	Transcript	.	.	ENSG00000266446	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	1,1,1,1	.	.	.	.	.	0,0,0,1	.	RP11-149I2.4	Clone_based_vega_gene	.	.	.	SNV	CDKN2A,missense_variant,p.Gly65Arg,ENST00000579755,;CDKN2A,missense_variant,p.Gly65Arg,ENST00000530628,;CDKN2A,missense_variant,p.Gly106Arg,ENST00000361570,;CDKN2A,intron_variant,,ENST00000498628,;CDKN2A,intron_variant,,ENST00000494262,;CDKN2B-AS1,upstream_gene_variant,,ENST00000584020,;CDKN2B-AS1,upstream_gene_variant,,ENST00000584816,;CDKN2B-AS1,upstream_gene_variant,,ENST00000585267,;CDKN2B-AS1,upstream_gene_variant,,ENST00000582301,;CDKN2B-AS1,upstream_gene_variant,,ENST00000577551,;CDKN2B-AS1,upstream_gene_variant,,ENST00000584637,;CDKN2B-AS1,upstream_gene_variant,,ENST00000582072,;CDKN2B-AS1,upstream_gene_variant,,ENST00000584351,;CDKN2B-AS1,upstream_gene_variant,,ENST00000455933,;RP11-149I2.4,upstream_gene_variant,,ENST00000578935,;CDKN2B-AS1,upstream_gene_variant,,ENST00000581051,;CDKN2B-AS1,upstream_gene_variant,,ENST00000580467,;CDKN2B-AS1,upstream_gene_variant,,ENST00000428597,;CDKN2B-AS1,upstream_gene_variant,,ENST00000580576,;CDKN2B-AS1,upstream_gene_variant,,ENST00000583719,;CDKN2B-AS1,upstream_gene_variant,,ENST00000468603,;CDKN2A,intron_variant,,ENST00000470819,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000582361,;RP11-145E5.5,intron_variant,,ENST00000404796,;	.	46	55	SUCCESS
RASL11A	387496	.	GRCh37	13	27847663	27847663	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	35	66	0	ENST00000241463.4:c.*32T>C			ENST00000241463	NM_206827.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9321.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAATACGCA	NONE	.	.	.	.	.	ENSP00000241463	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000241463	Transcript	.	.	ENSG00000122035	23802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSLBA_HUMAN	RASL11A	HGNC	.	.	UPI000013CAD1	SNV	RASL11A,3_prime_UTR_variant,,ENST00000241463,;RASL11A,downstream_gene_variant,,ENST00000475647,;RASL11A,downstream_gene_variant,,ENST00000480803,;	1379	66	75	SUCCESS
SORD	6652	.	GRCh37	15	45365861	45365861	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	41	75	0	ENST00000267814.9:c.*133A>G			ENST00000267814	NM_003104.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10116.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAAGTCCT	NONE	.	.	.	.	.	ENSP00000267814	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000267814	Transcript	.	.	ENSG00000140263	11184	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHSO_HUMAN	SORD	HGNC	.	.	UPI000013D771	SNV	SORD,3_prime_UTR_variant,,ENST00000558580,;SORD,3_prime_UTR_variant,,ENST00000267814,;RP11-109D20.2,non_coding_transcript_exon_variant,,ENST00000560967,;SORD,non_coding_transcript_exon_variant,,ENST00000559562,;SORD,downstream_gene_variant,,ENST00000560488,;SORD,3_prime_UTR_variant,,ENST00000559230,;SORD,downstream_gene_variant,,ENST00000558574,;SORD,downstream_gene_variant,,ENST00000558789,;	1387	75	80	SUCCESS
SPN	6693	.	GRCh37	16	29676336	29676336	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	67	139	0	ENST00000360121.3:c.*84T>G			ENST00000360121	NM_001030288.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10650.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCTCCCAT	NONE	.	.	.	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,3_prime_UTR_variant,,ENST00000360121,;SPN,3_prime_UTR_variant,,ENST00000395389,;QPRT,intron_variant,,ENST00000449759,;SPN,downstream_gene_variant,,ENST00000436527,;SPN,3_prime_UTR_variant,,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;	1379	139	173	SUCCESS
NOL3	8996	.	GRCh37	16	67209051	67209051	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	22	0	ENST00000268605.7:c.*94G>T			ENST00000268605	NM_001185057.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58473.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCAGCCCAG	NONE	.	.	.	.	.	ENSP00000454598	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000568146	Transcript	.	.	ENSG00000140939	7869	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL3_HUMAN	NOL3	HGNC	.	.	UPI0000130349	SNV	NOL3,missense_variant,p.Ser69Ile,ENST00000564860,;NOL3,3_prime_UTR_variant,,ENST00000432069,;NOL3,3_prime_UTR_variant,,ENST00000564053,;NOL3,3_prime_UTR_variant,,ENST00000268605,;NOL3,3_prime_UTR_variant,,ENST00000563258,;NOL3,3_prime_UTR_variant,,ENST00000568146,;NOL3,3_prime_UTR_variant,,ENST00000566871,;NOL3,downstream_gene_variant,,ENST00000563439,;KIAA0895L,downstream_gene_variant,,ENST00000290881,;KIAA0895L,downstream_gene_variant,,ENST00000561621,;KIAA0895L,downstream_gene_variant,,ENST00000568563,;NOL3,downstream_gene_variant,,ENST00000565560,;KIAA0895L,downstream_gene_variant,,ENST00000563902,;NOL3,downstream_gene_variant,,ENST00000564992,;KIAA0895L,downstream_gene_variant,,ENST00000563831,;NOL3,downstream_gene_variant,,ENST00000568199,;KIAA0895L,downstream_gene_variant,,ENST00000563918,;NOL3,downstream_gene_variant,,ENST00000565645,;KIAA0895L,downstream_gene_variant,,ENST00000570009,;KIAA0895L,downstream_gene_variant,,ENST00000564423,;KIAA0895L,downstream_gene_variant,,ENST00000562514,;NOL3,non_coding_transcript_exon_variant,,ENST00000568503,;KIAA0895L,downstream_gene_variant,,ENST00000568165,;KIAA0895L,downstream_gene_variant,,ENST00000569349,;NOL3,downstream_gene_variant,,ENST00000568086,;KIAA0895L,downstream_gene_variant,,ENST00000561679,;KIAA0895L,downstream_gene_variant,,ENST00000564835,;	764	22	42	SUCCESS
SRSF2	6427	.	GRCh37	17	74730965	74730965	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1369981313	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	30	0	ENST00000359995.5:c.*283A>G			ENST00000359995	NM_001195427.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTATATAAC	NONE	.	.	.	.	.	ENSP00000376276	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000392485	Transcript	.	.	ENSG00000161547	10783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRSF2_HUMAN	SRSF2	HGNC	B3KUY1_HUMAN	.	UPI0000000C2A	SNV	SRSF2,3_prime_UTR_variant,,ENST00000392485,;SRSF2,3_prime_UTR_variant,,ENST00000508921,;SRSF2,3_prime_UTR_variant,,ENST00000359995,;RP11-318A15.7,intron_variant,,ENST00000587459,;MFSD11,upstream_gene_variant,,ENST00000336509,;MFSD11,upstream_gene_variant,,ENST00000586622,;METTL23,downstream_gene_variant,,ENST00000590964,;METTL23,downstream_gene_variant,,ENST00000588783,;MFSD11,upstream_gene_variant,,ENST00000588460,;METTL23,downstream_gene_variant,,ENST00000586200,;METTL23,downstream_gene_variant,,ENST00000588563,;MFSD11,upstream_gene_variant,,ENST00000590514,;METTL23,downstream_gene_variant,,ENST00000586738,;METTL23,downstream_gene_variant,,ENST00000588822,;SRSF2,downstream_gene_variant,,ENST00000358156,;SRSF2,downstream_gene_variant,,ENST00000583836,;MFSD11,upstream_gene_variant,,ENST00000593181,;METTL23,downstream_gene_variant,,ENST00000591571,;MFSD11,upstream_gene_variant,,ENST00000591864,;METTL23,downstream_gene_variant,,ENST00000588302,;MFSD11,upstream_gene_variant,,ENST00000587661,;METTL23,downstream_gene_variant,,ENST00000592849,;MFSD11,upstream_gene_variant,,ENST00000355954,;MFSD11,upstream_gene_variant,,ENST00000586689,;MFSD11,upstream_gene_variant,,ENST00000590393,;METTL23,downstream_gene_variant,,ENST00000588964,;METTL23,downstream_gene_variant,,ENST00000586752,;METTL23,downstream_gene_variant,,ENST00000341249,;METTL23,downstream_gene_variant,,ENST00000589977,;MIR636,downstream_gene_variant,,ENST00000384825,;SRSF2,non_coding_transcript_exon_variant,,ENST00000582449,;SRSF2,intron_variant,,ENST00000589919,;SRSF2,intron_variant,,ENST00000585202,;SRSF2,intron_variant,,ENST00000586778,;SRSF2,intron_variant,,ENST00000452355,;MFSD11,upstream_gene_variant,,ENST00000588031,;MFSD11,upstream_gene_variant,,ENST00000588768,;SRSF2,downstream_gene_variant,,ENST00000592676,;METTL23,downstream_gene_variant,,ENST00000589581,;MFSD11,upstream_gene_variant,,ENST00000588670,;	2117	30	58	SUCCESS
PTPRH	5794	.	GRCh37	19	55692973	55692973	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	17	0	ENST00000376350.3:c.*149C>T			ENST00000376350	NM_002842.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33110.1	.	MUTECT|MUSE	.	CTCCTGGGGAA	NONE	.	.	.	.	.	ENSP00000365528	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000376350	Transcript	.	.	ENSG00000080031	9672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTPRH_HUMAN	PTPRH	HGNC	.	.	UPI000006EDE6	SNV	PTPRH,3_prime_UTR_variant,,ENST00000263434,;PTPRH,3_prime_UTR_variant,,ENST00000376350,;SYT5,upstream_gene_variant,,ENST00000589172,;SYT5,upstream_gene_variant,,ENST00000354308,;SYT5,upstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000537500,;CTD-2587H24.5,downstream_gene_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000585461,;	3520	17	17	SUCCESS
TRMT13	54482	.	GRCh37	1	100614954	100614954	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	189	154	314	1	ENST00000370141.2:c.*578T>C			ENST00000370141	NM_019083.2	330		0	.	.	.	.	.	C	T	protein_coding	YES	CCDS58014.1	990	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTGTCAG	NONE	.	.	.	.	.	ENSP00000359157	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000370138	Transcript	.	.	ENSG00000122477	28228	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC39_HUMAN	LRRC39	HGNC	.	.	UPI00002053BB	SNV	LRRC39,synonymous_variant,p.%3D,ENST00000370138,;TRMT13,3_prime_UTR_variant,,ENST00000370141,;LRRC39,intron_variant,,ENST00000342895,;LRRC39,intron_variant,,ENST00000370137,;TRMT13,downstream_gene_variant,,ENST00000482437,;	1189	315	343	SUCCESS
LGALS8	3964	.	GRCh37	1	236711711	236711711	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	12	0	ENST00000341872.6:c.*250A>C			ENST00000341872	NM_201543.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1611.1	.	MUTECT|MUSE	.	GGCTGACTCTT	NONE	.	.	.	.	.	ENSP00000435460	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000526589	Transcript	.	.	ENSG00000116977	6569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LEG8_HUMAN	LGALS8	HGNC	Q5T3P9_HUMAN,E9PPL1_HUMAN,E9PJ77_HUMAN,B1ANM0_HUMAN	.	UPI0000169CE4	SNV	LGALS8,3_prime_UTR_variant,,ENST00000323938,;LGALS8,3_prime_UTR_variant,,ENST00000526634,;LGALS8,3_prime_UTR_variant,,ENST00000366584,;LGALS8,3_prime_UTR_variant,,ENST00000526589,;LGALS8,3_prime_UTR_variant,,ENST00000450372,;LGALS8,3_prime_UTR_variant,,ENST00000341872,;LGALS8,downstream_gene_variant,,ENST00000238181,;HEATR1,downstream_gene_variant,,ENST00000366581,;LGALS8,downstream_gene_variant,,ENST00000527974,;LGALS8,downstream_gene_variant,,ENST00000416919,;LGALS8,downstream_gene_variant,,ENST00000525042,;LGALS8,downstream_gene_variant,,ENST00000352231,;HEATR1,downstream_gene_variant,,ENST00000366582,;RP11-385F5.4,intron_variant,,ENST00000433131,;LGALS8,downstream_gene_variant,,ENST00000528259,;LGALS8,downstream_gene_variant,,ENST00000532640,;LGALS8,downstream_gene_variant,,ENST00000489586,;LGALS8,downstream_gene_variant,,ENST00000366583,;LGALS8,downstream_gene_variant,,ENST00000525789,;	1850	12	8	SUCCESS
LZTS3	9762	.	GRCh37	20	3144887	3144887	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	9	0	ENST00000329152.3:c.*213G>A			ENST00000329152	NM_014731.2			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	TATTCCCTCCT	NONE	.	.	.	.	.	ENSP00000332123	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329152	Transcript	.	.	ENSG00000088899	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LZTS3_HUMAN	LZTS3	Uniprot_gn	.	.	UPI0000139A8C	SNV	LZTS3,3_prime_UTR_variant,,ENST00000329152,;LZTS3,3_prime_UTR_variant,,ENST00000360342,;LZTS3,3_prime_UTR_variant,,ENST00000337576,;UBOX5,upstream_gene_variant,,ENST00000217173,;UBOX5,upstream_gene_variant,,ENST00000449731,;UBOX5,upstream_gene_variant,,ENST00000348031,;FASTKD5,upstream_gene_variant,,ENST00000380266,;	3633	9	15	SUCCESS
C21orf128	0	.	GRCh37	21	43523671	43523671	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	13	0	ENST00000329015.2:c.*73G>A			ENST00000329015				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	ACCTTCGCACC	NONE	.	.	.	.	.	ENSP00000328495	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329015	Transcript	.	.	ENSG00000184385	23821	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CU128_HUMAN	C21orf128	HGNC	.	.	UPI000006FBA4	SNV	C21orf128,3_prime_UTR_variant,,ENST00000329015,;UMODL1,intron_variant,,ENST00000400424,;UMODL1,intron_variant,,ENST00000400427,;UMODL1,intron_variant,,ENST00000408910,;UMODL1,intron_variant,,ENST00000408989,;UMODL1,intron_variant,,ENST00000466434,;UMODL1,intron_variant,,ENST00000497243,;UMODL1,intron_variant,,ENST00000468982,;UMODL1,intron_variant,,ENST00000491559,;UMODL1,intron_variant,,ENST00000400421,;UMODL1,intron_variant,,ENST00000485357,;	714	13	13	SUCCESS
CARF	79800	.	GRCh37	2	203848487	203848487	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	27	0	ENST00000402905.3:c.*140A>G			ENST00000402905	NM_001104586.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42801.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATATATTTGT	NONE	.	.	.	.	.	ENSP00000384006	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000402905	Transcript	.	.	ENSG00000138380	14435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CARTF_HUMAN	CARF	HGNC	C9JT99_HUMAN,C9JZI6_HUMAN,C9JZ91_HUMAN,C9JSN4_HUMAN,C9JL40_HUMAN,C9JI92_HUMAN,C9JCD6_HUMAN,C9JBK9_HUMAN	.	UPI000007284D	SNV	CARF,3_prime_UTR_variant,,ENST00000320443,;CARF,3_prime_UTR_variant,,ENST00000438828,;CARF,3_prime_UTR_variant,,ENST00000428585,;CARF,3_prime_UTR_variant,,ENST00000402905,;CARF,3_prime_UTR_variant,,ENST00000545262,;CARF,downstream_gene_variant,,ENST00000545253,;CARF,downstream_gene_variant,,ENST00000414439,;WDR12,intron_variant,,ENST00000477723,;	2639	27	18	SUCCESS
TLX3	30012	.	GRCh37	5	170738654	170738654	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	78	0	ENST00000296921.5:c.*51C>A			ENST00000296921	NM_021025.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34288.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGGGCGCCCC	NONE	.	.	.	.	.	ENSP00000296921	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,3_prime_UTR_variant,,ENST00000296921,;	1009	78	73	SUCCESS
RCAN2	10231	.	GRCh37	6	46190828	46190828	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs762320278	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	38	95	0	ENST00000330430.6:c.*50T>C			ENST00000330430	NM_005822.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59023.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGAAAAAG	NONE	byFrequency	.	.	.	.	ENSP00000360425	.	5/5	.	.	.	.	.	.	.	.	rs752512240,rs762320278	5/5	PASS	ENST00000371374	Transcript	.	.	ENSG00000172348	3041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RCAN2_HUMAN	RCAN2	HGNC	.	.	UPI00001AEE48	SNV	RCAN2,3_prime_UTR_variant,,ENST00000371374,;RCAN2,3_prime_UTR_variant,,ENST00000330430,;RCAN2,3_prime_UTR_variant,,ENST00000306764,;RCAN2,downstream_gene_variant,,ENST00000405162,;	974	95	98	SUCCESS
SLC25A13	10165	.	GRCh37	7	95750471	95750471	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	36	0	ENST00000265631.5:c.*32del			ENST00000265631				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS55130.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCCACAAAAAG	NONE	.	.	.	.	.	ENSP00000400101	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000416240	Transcript	.	.	ENSG00000004864	10983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CMC2_HUMAN	SLC25A13	HGNC	Q75KX8_HUMAN	.	UPI0000001663	deletion	SLC25A13,3_prime_UTR_variant,,ENST00000265631,;SLC25A13,3_prime_UTR_variant,,ENST00000542654,;SLC25A13,3_prime_UTR_variant,,ENST00000416240,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000494085,;	2254	36	68	SUCCESS
NTRK2	4915	.	GRCh37	9	87636505	87636505	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD6-01	TCGA-DD-AAD6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	15	28	0	ENST00000277120.3:c.*153A>T			ENST00000277120				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6671.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCAGTGTG	NONE	.	.	.	.	.	ENSP00000365387	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000376214	Transcript	.	.	ENSG00000148053	8032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRK2_HUMAN	NTRK2	HGNC	S5MD53_HUMAN,Q8WXJ4_HUMAN	.	UPI000006FA0D	SNV	NTRK2,3_prime_UTR_variant,,ENST00000376213,;NTRK2,3_prime_UTR_variant,,ENST00000376214,;NTRK2,3_prime_UTR_variant,,ENST00000323115,;NTRK2,3_prime_UTR_variant,,ENST00000277120,;	3608	28	35	SUCCESS
THY1	7070	.	GRCh37	11	119290047	119290047	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	64	144	0	ENST00000284240.5:c.*71T>A			ENST00000284240	NM_006288.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8424.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCAGCTGA	NONE	.	.	.	.	.	ENSP00000284240	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000284240	Transcript	.	.	ENSG00000154096	11801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THY1_HUMAN	THY1	HGNC	E9PIM6_HUMAN,B0YJA4_HUMAN	.	UPI0000136F1F	SNV	THY1,synonymous_variant,p.%3D,ENST00000524970,;THY1,3_prime_UTR_variant,,ENST00000528522,;THY1,3_prime_UTR_variant,,ENST00000284240,;THY1,downstream_gene_variant,,ENST00000524659,;THY1,downstream_gene_variant,,ENST00000580275,;USP2-AS1,intron_variant,,ENST00000500970,;USP2-AS1,intron_variant,,ENST00000578923,;USP2-AS1,intron_variant,,ENST00000498979,;USP2-AS1,intron_variant,,ENST00000530002,;RP11-334E6.12,downstream_gene_variant,,ENST00000578216,;THY1,non_coding_transcript_exon_variant,,ENST00000527590,;THY1,3_prime_UTR_variant,,ENST00000528295,;THY1,non_coding_transcript_exon_variant,,ENST00000584021,;THY1,downstream_gene_variant,,ENST00000532974,;THY1,downstream_gene_variant,,ENST00000533840,;	1597	144	77	SUCCESS
NPAP1	23742	.	GRCh37	15	24928411	24928411	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1010280612	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	18	67	0	ENST00000329468.2:c.*3926G>A			ENST00000329468	NM_018958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACCGGACAC	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	7871	67	63	SUCCESS
RGS9	8787	.	GRCh37	17	63223595	63223595	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	41	0	ENST00000262406.9:c.*70A>T			ENST00000262406	NM_003835.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42373.1	.	MUTECT|MUSE	.	GGGCCACAGGA	NONE	.	.	.	.	.	ENSP00000262406	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000262406	Transcript	.	.	ENSG00000108370	10004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGS9_HUMAN	RGS9	HGNC	.	.	UPI000013382A	SNV	RGS9,3_prime_UTR_variant,,ENST00000262406,;RGS9,3_prime_UTR_variant,,ENST00000449996,;RGS9,downstream_gene_variant,,ENST00000443584,;RGS9,3_prime_UTR_variant,,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;	2162	41	36	SUCCESS
PSG5	5673	.	GRCh37	19	43672343	43672343	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	37	75	0	ENST00000342951.6:c.*53A>T			ENST00000342951	NM_001130014.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12617.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATCAAAG	NONE	.	.	.	.	.	ENSP00000382334	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000366175	Transcript	.	.	ENSG00000204941	9522	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSG5_HUMAN	PSG5	HGNC	.	.	UPI000013C7B9	SNV	PSG5,3_prime_UTR_variant,,ENST00000599812,;PSG5,3_prime_UTR_variant,,ENST00000407568,;PSG5,3_prime_UTR_variant,,ENST00000342951,;PSG5,intron_variant,,ENST00000407356,;PSG5,intron_variant,,ENST00000366175,;PSG5,non_coding_transcript_exon_variant,,ENST00000599214,;PSG5,intron_variant,,ENST00000401942,;	.	75	74	SUCCESS
RTN2	6253	.	GRCh37	19	45988808	45988808	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	13	0	ENST00000245923.4:c.*158T>A			ENST00000245923	NM_005619.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12665.1	.	MUTECT|MUSE	.	CGCTCAGGTAA	NONE	.	.	.	.	.	ENSP00000245923	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000245923	Transcript	1	.	ENSG00000125744	10468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTN2_HUMAN	RTN2	HGNC	K7EMR7_HUMAN	.	UPI00001352DC	SNV	RTN2,3_prime_UTR_variant,,ENST00000590526,;RTN2,3_prime_UTR_variant,,ENST00000344680,;RTN2,3_prime_UTR_variant,,ENST00000430715,;RTN2,3_prime_UTR_variant,,ENST00000245923,;PPM1N,upstream_gene_variant,,ENST00000401705,;RTN2,downstream_gene_variant,,ENST00000588036,;RTN2,downstream_gene_variant,,ENST00000590746,;RTN2,3_prime_UTR_variant,,ENST00000587597,;RTN2,3_prime_UTR_variant,,ENST00000591286,;RTN2,downstream_gene_variant,,ENST00000593129,;RTN2,downstream_gene_variant,,ENST00000591789,;RTN2,downstream_gene_variant,,ENST00000589628,;RTN2,downstream_gene_variant,,ENST00000593187,;	2032	13	13	SUCCESS
NMNAT1	64802	.	GRCh37	1	10042777	10042777	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	30	98	0	ENST00000377205.1:c.*18A>T			ENST00000377205	NM_022787.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS108.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGATATTTCA	NONE	.	.	.	.	.	ENSP00000366410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377205	Transcript	.	.	ENSG00000173614	17877	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMNA1_HUMAN	NMNAT1	HGNC	.	.	UPI0000041261	SNV	NMNAT1,3_prime_UTR_variant,,ENST00000377205,;NMNAT1,intron_variant,,ENST00000496751,;NMNAT1,downstream_gene_variant,,ENST00000403197,;RP11-807G9.2,upstream_gene_variant,,ENST00000413148,;NMNAT1,3_prime_UTR_variant,,ENST00000462686,;	1002	98	103	SUCCESS
VPS54	51542	.	GRCh37	2	64120302	64120302	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	8	0	ENST00000272322.4:c.*262T>G			ENST00000272322				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33208.1	.	MUTECT|MUSE	.	AAAGAAACCTG	NONE	.	.	.	.	.	ENSP00000272322	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,3_prime_UTR_variant,,ENST00000354504,;VPS54,3_prime_UTR_variant,,ENST00000272322,;VPS54,3_prime_UTR_variant,,ENST00000409558,;UGP2,downstream_gene_variant,,ENST00000394417,;UGP2,downstream_gene_variant,,ENST00000467648,;UGP2,downstream_gene_variant,,ENST00000445915,;UGP2,downstream_gene_variant,,ENST00000337130,;VPS54,3_prime_UTR_variant,,ENST00000416400,;UGP2,downstream_gene_variant,,ENST00000475550,;	3351	8	10	SUCCESS
VPS54	51542	.	GRCh37	2	64120381	64120381	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	12	24	0	ENST00000272322.4:c.*183T>G			ENST00000272322				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33208.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAAAATGACA	NONE	.	.	.	.	.	ENSP00000272322	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000272322	Transcript	.	.	ENSG00000143952	18652	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VPS54_HUMAN	VPS54	HGNC	.	.	UPI0000053408	SNV	VPS54,3_prime_UTR_variant,,ENST00000354504,;VPS54,3_prime_UTR_variant,,ENST00000272322,;VPS54,3_prime_UTR_variant,,ENST00000409558,;UGP2,downstream_gene_variant,,ENST00000394417,;UGP2,downstream_gene_variant,,ENST00000467648,;UGP2,downstream_gene_variant,,ENST00000445915,;UGP2,downstream_gene_variant,,ENST00000337130,;VPS54,3_prime_UTR_variant,,ENST00000416400,;UGP2,downstream_gene_variant,,ENST00000475550,;	3272	24	22	SUCCESS
COX7B2	170712	.	GRCh37	4	46736854	46736854	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	47	0	ENST00000355591.3:c.*110A>G			ENST00000355591	NM_130902.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3472.2	.	MUTECT|MUSE	.	AAAGATTTAAA	NONE	.	.	.	.	.	ENSP00000379784	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396533	Transcript	.	.	ENSG00000170516	24381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CX7B2_HUMAN	COX7B2	HGNC	D6R9N1_HUMAN	.	UPI000005034B	SNV	COX7B2,3_prime_UTR_variant,,ENST00000543208,;COX7B2,3_prime_UTR_variant,,ENST00000355591,;COX7B2,3_prime_UTR_variant,,ENST00000302930,;COX7B2,3_prime_UTR_variant,,ENST00000396533,;COX7B2,downstream_gene_variant,,ENST00000505102,;	607	47	30	SUCCESS
COMMD8	54951	.	GRCh37	4	47453576	47453576	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	56	1	ENST00000381571.4:c.*86G>A			ENST00000381571	NM_017845.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3475.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATCACAAG	NONE	.	.	.	.	.	ENSP00000370984	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000381571	Transcript	.	.	ENSG00000169019	26036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COMD8_HUMAN	COMMD8	HGNC	.	.	UPI000006D05A	SNV	COMMD8,3_prime_UTR_variant,,ENST00000381571,;	706	57	46	SUCCESS
LNX1	84708	.	GRCh37	4	54325901	54325901	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	15	0				ENST00000263925	NM_001126328.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47057.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTACATACA	NONE	.	722	.	.	.	ENSP00000263925	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000263925	Transcript	.	.	ENSG00000072201	6657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LNX1_HUMAN	LNX1	HGNC	D6RB76_HUMAN,D6RAH9_HUMAN	.	UPI000012E7A6	SNV	LNX1,3_prime_UTR_variant,,ENST00000306888,;FIP1L1,3_prime_UTR_variant,,ENST00000504094,;FIP1L1,intron_variant,,ENST00000507166,;FIP1L1,downstream_gene_variant,,ENST00000358575,;FIP1L1,downstream_gene_variant,,ENST00000337488,;FIP1L1,downstream_gene_variant,,ENST00000306932,;LNX1,downstream_gene_variant,,ENST00000263925,;FIP1L1,downstream_gene_variant,,ENST00000507206,;FIP1L1,downstream_gene_variant,,ENST00000514543,;FIP1L1,downstream_gene_variant,,ENST00000505125,;FIP1L1,downstream_gene_variant,,ENST00000513008,;	.	15	14	SUCCESS
TSPAN17	26262	.	GRCh37	5	176084843	176084843	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1010118610	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	48	0	ENST00000310032.8:c.*144C>T			ENST00000310032	NM_012171.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34298.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCCGCCTG	NONE	.	.	.	.	.	ENSP00000309036	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000310032	Transcript	.	.	ENSG00000048140	13594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TSPAN17	HGNC	J3KNG2_HUMAN	.	UPI00004542F1	SNV	TSPAN17,3_prime_UTR_variant,,ENST00000310032,;TSPAN17,3_prime_UTR_variant,,ENST00000508164,;TSPAN17,3_prime_UTR_variant,,ENST00000298564,;TSPAN17,3_prime_UTR_variant,,ENST00000515708,;TSPAN17,3_prime_UTR_variant,,ENST00000405525,;TSPAN17,downstream_gene_variant,,ENST00000503045,;TSPAN17,downstream_gene_variant,,ENST00000507471,;TSPAN17,downstream_gene_variant,,ENST00000504168,;TSPAN17,non_coding_transcript_exon_variant,,ENST00000514705,;TSPAN17,downstream_gene_variant,,ENST00000503030,;	1372	48	28	SUCCESS
C9orf47	1903	.	GRCh37	9	91610495	91610495	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	43	147	0	ENST00000334490.5:c.*3592T>C			ENST00000334490				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35062.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTGTTGGTA	NONE	.	.	.	.	.	ENSP00000335616	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334490	Transcript	.	.	ENSG00000186354	23669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI047_HUMAN	C9orf47	HGNC	.	.	UPI00001C0EE0	SNV	C9orf47,3_prime_UTR_variant,,ENST00000334490,;C9orf47,3_prime_UTR_variant,,ENST00000375851,;S1PR3,intron_variant,,ENST00000358157,;C9orf47,downstream_gene_variant,,ENST00000375850,;S1PR3,upstream_gene_variant,,ENST00000375846,;	4269	147	162	SUCCESS
MSL3	10943	.	GRCh37	X	11793398	11793398	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	16	31	0	ENST00000312196.4:c.*200G>T			ENST00000312196	NM_078629.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14147.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GACACGACACT	NONE	.	.	.	.	.	ENSP00000312244	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000312196	Transcript	.	.	ENSG00000005302	7370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MS3L1_HUMAN	MSL3	HGNC	F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN	.	UPI000006E6B7	SNV	MSL3,3_prime_UTR_variant,,ENST00000312196,;MSL3,3_prime_UTR_variant,,ENST00000380693,;MSL3,3_prime_UTR_variant,,ENST00000398527,;MSL3,downstream_gene_variant,,ENST00000361672,;MSL3,downstream_gene_variant,,ENST00000468149,;MSL3,downstream_gene_variant,,ENST00000473380,;	1871	31	18	SUCCESS
FAM133A	286499	.	GRCh37	X	92965600	92965600	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAD8-01	TCGA-DD-AAD8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	132	80	301	0	ENST00000322139.4:c.*435T>A			ENST00000322139	NM_001171111.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTCCTTT	NONE	.	.	.	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,3_prime_UTR_variant,,ENST00000355813,;FAM133A,3_prime_UTR_variant,,ENST00000538690,;FAM133A,3_prime_UTR_variant,,ENST00000332647,;FAM133A,3_prime_UTR_variant,,ENST00000322139,;	1743	301	212	SUCCESS
PRSS23	11098	.	GRCh37	11	86522032	86522032	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs756535991	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	25	130	0	ENST00000280258.5:c.*2195G>T			ENST00000280258	NM_007173.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8278.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTGCCTAG	NONE	.	.	.	.	.	ENSP00000280258	.	2/2	.	.	.	.	.	.	.	.	rs756535991	2/2	PASS	ENST00000280258	Transcript	.	.	ENSG00000150687	14370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS23_HUMAN	PRSS23	HGNC	E9PRR2_HUMAN,B7ZB43_HUMAN	.	UPI0000048EBC	SNV	PRSS23,3_prime_UTR_variant,,ENST00000280258,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,downstream_gene_variant,,ENST00000441050,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000532234,;	3772	130	94	SUCCESS
KCNA6	3742	.	GRCh37	12	4921845	4921845	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	88	0	ENST00000280684.3:c.*1048T>C			ENST00000280684				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8534.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAACTCCAGC	NONE	.	.	.	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,3_prime_UTR_variant,,ENST00000433855,;KCNA6,3_prime_UTR_variant,,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	3504	88	68	SUCCESS
FOXG1	2290	.	GRCh37	14	29238645	29238645	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	5	113	0	ENST00000313071.4:c.*690G>C			ENST00000313071	NM_005249.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9636.1	.	MUTECT|MUSE	.	TAACAGGTCAC	NONE	.	.	.	.	.	ENSP00000371975	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382535	Transcript	.	.	ENSG00000176165	3811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXG1_HUMAN	FOXG1	HGNC	.	.	UPI00001AE46C	SNV	FOXG1,3_prime_UTR_variant,,ENST00000313071,;FOXG1,3_prime_UTR_variant,,ENST00000382535,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;	2529	113	81	SUCCESS
WDR73	84942	.	GRCh37	15	85186608	85186608	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	35	0	ENST00000434634.2:c.*93T>G			ENST00000434634	NM_032856.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45339.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTAACAGGGAC	NONE	.	.	.	.	.	ENSP00000387982	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000434634	Transcript	1	.	ENSG00000177082	25928	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR73_HUMAN	WDR73	HGNC	.	.	UPI000004A084	SNV	WDR73,3_prime_UTR_variant,,ENST00000434634,;WDR73,non_coding_transcript_exon_variant,,ENST00000398528,;SCAND2P,downstream_gene_variant,,ENST00000560678,;SCAND2P,downstream_gene_variant,,ENST00000560416,;WDR73,downstream_gene_variant,,ENST00000561447,;SCAND2P,downstream_gene_variant,,ENST00000558508,;SCAND2P,downstream_gene_variant,,ENST00000348993,;WDR73,downstream_gene_variant,,ENST00000560835,;SCAND2P,downstream_gene_variant,,ENST00000560543,;WDR73,non_coding_transcript_exon_variant,,ENST00000558608,;WDR73,non_coding_transcript_exon_variant,,ENST00000559994,;WDR73,non_coding_transcript_exon_variant,,ENST00000559015,;WDR73,non_coding_transcript_exon_variant,,ENST00000559126,;WDR73,downstream_gene_variant,,ENST00000561329,;WDR73,downstream_gene_variant,,ENST00000560252,;WDR73,downstream_gene_variant,,ENST00000560088,;WDR73,downstream_gene_variant,,ENST00000559224,;WDR73,downstream_gene_variant,,ENST00000558019,;WDR73,downstream_gene_variant,,ENST00000559178,;WDR73,downstream_gene_variant,,ENST00000560966,;WDR73,downstream_gene_variant,,ENST00000558521,;WDR73,downstream_gene_variant,,ENST00000559452,;SCAND2P,downstream_gene_variant,,ENST00000541482,;SCAND2P,downstream_gene_variant,,ENST00000541103,;	1291	35	24	SUCCESS
FAM106A	80039	.	GRCh37	17	18428968	18428968	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	121	71	263	0	ENST00000392176.3:c.*640del			ENST00000392176				0	.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR|VARSCANI	.	CACGTGCCCATC	NONE	.	.	.	.	.	ENSP00000437812	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392176	Transcript	.	.	ENSG00000213077	25682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F106A_HUMAN	FAM106A	HGNC	.	.	UPI000006FE37	deletion	FAM106A,3_prime_UTR_variant,,ENST00000392176,;CTD-2303H24.2,intron_variant,,ENST00000581595,;CTD-2303H24.2,intron_variant,,ENST00000608313,;CTD-2303H24.2,intron_variant,,ENST00000608141,;CTD-2303H24.2,intron_variant,,ENST00000425211,;CTD-2303H24.2,intron_variant,,ENST00000609805,;USP32P2,intron_variant,,ENST00000608376,;CTD-2303H24.2,intron_variant,,ENST00000609272,;CTD-2303H24.2,intron_variant,,ENST00000609193,;CTD-2303H24.2,intron_variant,,ENST00000608216,;CTD-2303H24.2,intron_variant,,ENST00000609831,;CTD-2303H24.2,intron_variant,,ENST00000609832,;CTD-2303H24.2,intron_variant,,ENST00000610155,;USP32P2,upstream_gene_variant,,ENST00000412260,;USP32P2,upstream_gene_variant,,ENST00000610104,;USP32P2,upstream_gene_variant,,ENST00000578409,;USP32P2,upstream_gene_variant,,ENST00000577869,;CTD-2303H24.2,downstream_gene_variant,,ENST00000446853,;CTD-2303H24.2,upstream_gene_variant,,ENST00000608726,;CTD-2303H24.2,intron_variant,,ENST00000609578,;CTD-2303H24.2,intron_variant,,ENST00000608385,;CTD-2303H24.2,intron_variant,,ENST00000420856,;USP32P2,upstream_gene_variant,,ENST00000414432,;SRP68P2,upstream_gene_variant,,ENST00000456184,;	1193	263	192	SUCCESS
FAM106A	80039	.	GRCh37	17	18428971	18428971	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	116	73	266	0	ENST00000392176.3:c.*637T>A			ENST00000392176				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|VARSCANS	.	TGCCCATCTAA	NONE	.	.	.	.	.	ENSP00000437812	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392176	Transcript	.	.	ENSG00000213077	25682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F106A_HUMAN	FAM106A	HGNC	.	.	UPI000006FE37	SNV	FAM106A,3_prime_UTR_variant,,ENST00000392176,;CTD-2303H24.2,intron_variant,,ENST00000581595,;CTD-2303H24.2,intron_variant,,ENST00000608313,;CTD-2303H24.2,intron_variant,,ENST00000608141,;CTD-2303H24.2,intron_variant,,ENST00000425211,;CTD-2303H24.2,intron_variant,,ENST00000609805,;USP32P2,intron_variant,,ENST00000608376,;CTD-2303H24.2,intron_variant,,ENST00000609272,;CTD-2303H24.2,intron_variant,,ENST00000609193,;CTD-2303H24.2,intron_variant,,ENST00000608216,;CTD-2303H24.2,intron_variant,,ENST00000609831,;CTD-2303H24.2,intron_variant,,ENST00000609832,;CTD-2303H24.2,intron_variant,,ENST00000610155,;USP32P2,upstream_gene_variant,,ENST00000412260,;USP32P2,upstream_gene_variant,,ENST00000610104,;USP32P2,upstream_gene_variant,,ENST00000578409,;USP32P2,upstream_gene_variant,,ENST00000577869,;CTD-2303H24.2,downstream_gene_variant,,ENST00000446853,;CTD-2303H24.2,upstream_gene_variant,,ENST00000608726,;CTD-2303H24.2,intron_variant,,ENST00000609578,;CTD-2303H24.2,intron_variant,,ENST00000608385,;CTD-2303H24.2,intron_variant,,ENST00000420856,;USP32P2,upstream_gene_variant,,ENST00000414432,;SRP68P2,upstream_gene_variant,,ENST00000456184,;	1190	266	189	SUCCESS
GRB7	2886	.	GRCh37	17	37903233	37903233	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs938627024	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	15	0	ENST00000309156.4:c.*83G>A			ENST00000309156	NM_005310.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56028.1	.	RADIA|MUTECT|MUSE	.	GGCGCGGCCAC	NONE	.	.	.	.	.	ENSP00000403459	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000445327	Transcript	.	.	ENSG00000141738	4567	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GRB7_HUMAN	GRB7	HGNC	.	.	UPI0001AE662D	SNV	GRB7,3_prime_UTR_variant,,ENST00000394209,;GRB7,3_prime_UTR_variant,,ENST00000445327,;GRB7,3_prime_UTR_variant,,ENST00000394211,;GRB7,3_prime_UTR_variant,,ENST00000309185,;GRB7,3_prime_UTR_variant,,ENST00000394204,;GRB7,3_prime_UTR_variant,,ENST00000309156,;GRB7,downstream_gene_variant,,ENST00000577695,;GRB7,downstream_gene_variant,,ENST00000578702,;GRB7,downstream_gene_variant,,ENST00000473071,;GRB7,downstream_gene_variant,,ENST00000461756,;GRB7,downstream_gene_variant,,ENST00000584053,;GRB7,downstream_gene_variant,,ENST00000485182,;GRB7,downstream_gene_variant,,ENST00000584819,;GRB7,downstream_gene_variant,,ENST00000583813,;	1886	15	10	SUCCESS
NFIC	4782	.	GRCh37	19	3462884	3462884	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1174396786	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	33	0	ENST00000443272.2:c.*117C>T			ENST00000443272	NM_001245002.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59330.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCCGACTC	NONE	.	.	.	.	.	ENSP00000396843	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000443272	Transcript	.	.	ENSG00000141905	7786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFIC_HUMAN	NFIC	HGNC	.	.	UPI000012FFC8	SNV	NFIC,3_prime_UTR_variant,,ENST00000590282,;NFIC,3_prime_UTR_variant,,ENST00000341919,;NFIC,3_prime_UTR_variant,,ENST00000395111,;NFIC,3_prime_UTR_variant,,ENST00000589123,;NFIC,3_prime_UTR_variant,,ENST00000346156,;NFIC,3_prime_UTR_variant,,ENST00000443272,;NFIC,downstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;	1695	33	18	SUCCESS
NME7	29922	.	GRCh37	1	169101615	169101615	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs1571231121	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	13	41	1				ENST00000367811	NM_013330.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1276.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	CTTTCCTTTTT	NONE	.	.	.	.	.	ENSP00000356790	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367816	Transcript	.	.	ENSG00000143153	804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AT1B1_HUMAN	ATP1B1	HGNC	Q58I20_HUMAN,B7Z9S8_HUMAN,A3KLL5_HUMAN	.	UPI0000126296	SNV	ATP1B1,3_prime_UTR_variant,,ENST00000367816,;NME7,downstream_gene_variant,,ENST00000367811,;ATP1B1,downstream_gene_variant,,ENST00000367813,;ATP1B1,downstream_gene_variant,,ENST00000499679,;ATP1B1,downstream_gene_variant,,ENST00000367815,;ATP1B1,downstream_gene_variant,,ENST00000494797,;NME7,downstream_gene_variant,,ENST00000472647,;NME7,downstream_gene_variant,,ENST00000493481,;NME7,downstream_gene_variant,,ENST00000530739,;NME7,downstream_gene_variant,,ENST00000525440,;	2263	42	62	SUCCESS
OLIG2	10215	.	GRCh37	21	34400838	34400838	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	41	150	0	ENST00000333337.3:c.*696A>G			ENST00000333337				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13620.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTAATAAA	NONE	.	.	.	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,3_prime_UTR_variant,,ENST00000382357,;OLIG2,3_prime_UTR_variant,,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	2596	150	105	SUCCESS
POTEH	23784	.	GRCh37	22	16256535	16256535	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	333	24	469	0	ENST00000343518.6:c.*144A>C			ENST00000343518	NM_001136213.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46658.1	.	MUTECT|MUSE	.	CACTTTCAATT	NONE	.	.	.	.	.	ENSP00000340610	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,3_prime_UTR_variant,,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;LA16c-3G11.7,upstream_gene_variant,,ENST00000339523,;	1834	469	357	SUCCESS
ERCC3	2071	.	GRCh37	2	128015032	128015032	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	28	265	0	ENST00000285398.2:c.*140G>A			ENST00000285398	NM_000122.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2144.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGCCCTTG	NONE	.	.	.	.	.	ENSP00000285398	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000285398	Transcript	.	.	ENSG00000163161	3435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ERCC3_HUMAN	ERCC3	HGNC	G3V1S1_HUMAN	.	UPI000013900E	SNV	ERCC3,3_prime_UTR_variant,,ENST00000493187,;ERCC3,3_prime_UTR_variant,,ENST00000285398,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;ERCC3,3_prime_UTR_variant,,ENST00000445889,;ERCC3,non_coding_transcript_exon_variant,,ENST00000491292,;	2584	265	210	SUCCESS
APPL1	26060	.	GRCh37	3	57303766	57303766	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	63	0	ENST00000288266.3:c.*51T>C			ENST00000288266	NM_012096.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2882.1	.	MUTECT|MUSE|VARSCANS	.	TATGGTGAAAT	NONE	.	.	.	.	.	ENSP00000288266	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000288266	Transcript	.	.	ENSG00000157500	24035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DP13A_HUMAN	APPL1	HGNC	.	.	UPI00000712DA	SNV	APPL1,3_prime_UTR_variant,,ENST00000288266,;ASB14,intron_variant,,ENST00000487349,;ASB14,intron_variant,,ENST00000389601,;APPL1,downstream_gene_variant,,ENST00000488530,;APPL1,downstream_gene_variant,,ENST00000482800,;	2328	63	61	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532487	140532487	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs558241507	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	20	162	0	ENST00000231136.1:c.*264C>A			ENST00000231136	NM_018939.2			0	.	A:0.0008	.	A:0.0014	.	A	.	protein_coding	YES	CCDS4248.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCCAAAAA	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000231136	A:0.007	1/1	.	.	.	.	.	.	.	.	rs558241507	1/1	PASS	ENST00000231136	Transcript	.	A:0.0030	ENSG00000113211	8691	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0061	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,3_prime_UTR_variant,,ENST00000543635,;PCDHB6,3_prime_UTR_variant,,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2649	162	107	SUCCESS
ARAP3	64411	.	GRCh37	5	141033383	141033383	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs989823615	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	25	0	ENST00000239440.4:c.*134C>A			ENST00000239440	NM_022481.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4266.1	.	MUTECT|MUSE	.	CTTTAGTCCAG	NONE	.	.	.	.	.	ENSP00000239440	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000239440	Transcript	.	.	ENSG00000120318	24097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARAP3_HUMAN	ARAP3	HGNC	Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN	.	UPI0000049886	SNV	ARAP3,3_prime_UTR_variant,,ENST00000508305,;ARAP3,3_prime_UTR_variant,,ENST00000239440,;ARAP3,3_prime_UTR_variant,,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000522783,;FCHSD1,upstream_gene_variant,,ENST00000435817,;FCHSD1,upstream_gene_variant,,ENST00000519800,;FCHSD1,upstream_gene_variant,,ENST00000522126,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	4835	25	13	SUCCESS
DIMT1	27292	.	GRCh37	5	61684573	61684573	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	35	0	ENST00000199320.4:c.*264A>T			ENST00000199320	NM_014473.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3981.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATAAGTGTAAA	NONE	.	.	.	.	.	ENSP00000199320	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000199320	Transcript	.	.	ENSG00000086189	30217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIM1_HUMAN	DIMT1	HGNC	B4DRY2_HUMAN	.	UPI00001293E2	SNV	DIMT1,3_prime_UTR_variant,,ENST00000199320,;KIF2A,downstream_gene_variant,,ENST00000401507,;KIF2A,downstream_gene_variant,,ENST00000506857,;KIF2A,downstream_gene_variant,,ENST00000407818,;KIF2A,downstream_gene_variant,,ENST00000381103,;DIMT1,downstream_gene_variant,,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,downstream_gene_variant,,ENST00000509182,;DIMT1,downstream_gene_variant,,ENST00000514911,;DIMT1,downstream_gene_variant,,ENST00000514605,;	1367	35	20	SUCCESS
TNFAIP3	7128	.	GRCh37	6	138202526	138202526	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	37	117	0	ENST00000237289.4:c.*70C>G			ENST00000237289	NM_001270507.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5187.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCTCTGAAC	NONE	.	.	.	.	.	ENSP00000237289	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000237289	Transcript	.	.	ENSG00000118503	11896	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNAP3_HUMAN	TNFAIP3	HGNC	Q5VXR0_HUMAN,Q5VXQ9_HUMAN,Q5VXQ8_HUMAN,Q5PY18_HUMAN,D3TTZ5_HUMAN,D3TTZ0_HUMAN,D3TTY6_HUMAN	.	UPI000000D92D	SNV	TNFAIP3,3_prime_UTR_variant,,ENST00000237289,;TNFAIP3,downstream_gene_variant,,ENST00000485192,;	2509	117	75	SUCCESS
EHMT2	10919	.	GRCh37	6	31868735	31868735	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	22	104	0				ENST00000375537	NM_006709.3	116		0	.	.	.	.	.	T	V	protein_coding	YES	CCDS4727.1	348	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCACCAC	NONE	.	.	hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF45,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	.	.	ENSP00000364677	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375527	Transcript	.	.	ENSG00000204366	19066	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT12_HUMAN	ZBTB12	HGNC	.	.	UPI000000DA6C	SNV	ZBTB12,synonymous_variant,p.%3D,ENST00000375527,;C2,intron_variant,,ENST00000469372,;C2,intron_variant,,ENST00000497706,;EHMT2,upstream_gene_variant,,ENST00000375537,;EHMT2,upstream_gene_variant,,ENST00000375528,;C2,upstream_gene_variant,,ENST00000452202,;C2,upstream_gene_variant,,ENST00000452323,;EHMT2,upstream_gene_variant,,ENST00000395728,;EHMT2,upstream_gene_variant,,ENST00000375530,;EHMT2,upstream_gene_variant,,ENST00000480912,;EHMT2,upstream_gene_variant,,ENST00000465429,;	524	104	124	SUCCESS
RNF183	138065	.	GRCh37	9	116059774	116059774	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	38	163	0	ENST00000297894.5:c.*112A>C			ENST00000297894				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43866.1	.	SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGGATT	NONE	.	.	.	.	.	ENSP00000419454	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000478815	Transcript	.	.	ENSG00000165188	28721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RN183_HUMAN	RNF183	HGNC	.	.	UPI0000140EAA	SNV	RNF183,3_prime_UTR_variant,,ENST00000297894,;RNF183,3_prime_UTR_variant,,ENST00000478815,;RNF183,3_prime_UTR_variant,,ENST00000441031,;RNF183,3_prime_UTR_variant,,ENST00000416588,;PRPF4,downstream_gene_variant,,ENST00000374199,;PRPF4,downstream_gene_variant,,ENST00000374198,;RNF183,downstream_gene_variant,,ENST00000443976,;RNF183,downstream_gene_variant,,ENST00000489339,;RNF183,downstream_gene_variant,,ENST00000478493,;	2272	163	113	SUCCESS
CXorf67	0	.	GRCh37	X	51151469	51151469	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADA-01	TCGA-DD-AADA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	9	140	0	ENST00000342995.2:c.*89G>C			ENST00000342995				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCGAGGTCTC	NONE	.	.	.	.	.	ENSP00000342680	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342995	Transcript	.	.	ENSG00000187690	33738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CX067_HUMAN	CXorf67	HGNC	.	.	UPI000000DB6D	SNV	CXorf67,3_prime_UTR_variant,,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	1703	140	75	SUCCESS
CCDC62	84660	.	GRCh37	12	123311062	123311062	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs754971274	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	52	0	ENST00000253079.6:c.*134G>C			ENST00000253079	NM_201435.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9238.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACGGCACT	NONE	.	.	.	.	.	ENSP00000253079	.	13/13	.	.	.	.	.	.	.	.	rs754971274	13/13	PASS	ENST00000253079	Transcript	.	.	ENSG00000130783	30723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCD62_HUMAN	CCDC62	HGNC	.	.	UPI0000366924	SNV	CCDC62,3_prime_UTR_variant,,ENST00000537566,;CCDC62,3_prime_UTR_variant,,ENST00000392441,;CCDC62,3_prime_UTR_variant,,ENST00000253079,;CCDC62,3_prime_UTR_variant,,ENST00000392440,;CCDC62,3_prime_UTR_variant,,ENST00000341952,;	2533	52	44	SUCCESS
NFKBIA	4792	.	GRCh37	14	35871070	35871070	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	30	90	0	ENST00000216797.5:c.*149A>G			ENST00000216797	NM_020529.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9656.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCCTACCAC	NONE	.	.	.	.	.	ENSP00000216797	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216797	Transcript	.	.	ENSG00000100906	7797	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IKBA_HUMAN	NFKBIA	HGNC	Q9UGJ5_HUMAN,G3V286_HUMAN	.	UPI000004F0A9	SNV	NFKBIA,3_prime_UTR_variant,,ENST00000557389,;NFKBIA,3_prime_UTR_variant,,ENST00000216797,;NFKBIA,3_prime_UTR_variant,,ENST00000557140,;NFKBIA,downstream_gene_variant,,ENST00000553342,;NFKBIA,downstream_gene_variant,,ENST00000557100,;NFKBIA,3_prime_UTR_variant,,ENST00000554001,;NFKBIA,downstream_gene_variant,,ENST00000557459,;NFKBIA,downstream_gene_variant,,ENST00000555629,;NFKBIA,downstream_gene_variant,,ENST00000555371,;NFKBIA,downstream_gene_variant,,ENST00000556664,;	1205	90	60	SUCCESS
USHBP1	83878	.	GRCh37	19	17361025	17361025	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	32	0	ENST00000252597.3:c.*9C>T			ENST00000252597	NM_031941.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12353.1	.	MUTECT|MUSE	.	GCTGGGTAAGG	NONE	.	.	.	.	.	ENSP00000252597	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000252597	Transcript	.	.	ENSG00000130307	24058	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	USBP1_HUMAN	USHBP1	HGNC	M0R3B1_HUMAN,M0R172_HUMAN	.	UPI000006F7A8	SNV	USHBP1,3_prime_UTR_variant,,ENST00000252597,;USHBP1,3_prime_UTR_variant,,ENST00000431146,;AC010646.3,intron_variant,,ENST00000594059,;NR2F6,upstream_gene_variant,,ENST00000291442,;USHBP1,3_prime_UTR_variant,,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;	2295	32	35	SUCCESS
ZNF670	93474	.	GRCh37	1	247200611	247200611	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	13	0	ENST00000366503.2:c.*140G>A			ENST00000366503	NM_001204220.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31087.1	.	MUTECT|MUSE	.	GCATACATTCT	NONE	.	.	.	.	.	ENSP00000355459	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366503	Transcript	.	.	ENSG00000135747	28167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN670_HUMAN	ZNF670	HGNC	.	.	UPI0000070EC3	SNV	ZNF670,3_prime_UTR_variant,,ENST00000366503,;ZNF670,intron_variant,,ENST00000474541,;ZNF670,intron_variant,,ENST00000465049,;	1469	13	15	SUCCESS
SOX11	6664	.	GRCh37	2	5832798	5832798	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	64	0				ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	MUTECT|MUSE|VARSCANS	.	AGGGGGACCTC	NONE	.	1	.	.	.	ENSP00000322568	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,upstream_gene_variant,,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	.	64	49	SUCCESS
SLC25A36	55186	.	GRCh37	3	140695388	140695388	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs934061662	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	27	0	ENST00000324194.6:c.*93A>G			ENST00000324194				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46927.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAATAGTT	NONE	.	.	.	.	.	ENSP00000320688	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000324194	Transcript	.	.	ENSG00000114120	25554	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S2536_HUMAN	SLC25A36	HGNC	.	.	UPI000006D558	SNV	SLC25A36,3_prime_UTR_variant,,ENST00000446041,;SLC25A36,3_prime_UTR_variant,,ENST00000324194,;SLC25A36,downstream_gene_variant,,ENST00000453248,;RP11-231L11.3,downstream_gene_variant,,ENST00000513802,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000511757,;SLC25A36,downstream_gene_variant,,ENST00000512506,;SLC25A36,downstream_gene_variant,,ENST00000502866,;SLC25A36,downstream_gene_variant,,ENST00000502594,;SLC25A36,downstream_gene_variant,,ENST00000514629,;SLC25A36,downstream_gene_variant,,ENST00000512023,;	1197	27	18	SUCCESS
CCR5	1234	.	GRCh37	3	46416502	46416502	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1270356449	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	122	8	116	0	ENST00000292303.4:c.*1050G>T			ENST00000292303	NM_001100168.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2739.1	.	MUTECT|MUSE	.	AGAGAGAATCC	NONE	.	.	.	.	.	ENSP00000343985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000343801	Transcript	.	.	ENSG00000160791	1606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCR5_HUMAN	CCR5	HGNC	Q9UBT9_HUMAN,Q9P1T4_HUMAN,Q5KSY4_HUMAN,Q5EKN0_HUMAN,Q38L21_HUMAN,J7HJP8_HUMAN,E7BJ57_HUMAN,B8LFP0_HUMAN,B8LFN8_HUMAN,A1A490_HUMAN	.	UPI000000D955	SNV	CCR5,3_prime_UTR_variant,,ENST00000292303,;CCR5,3_prime_UTR_variant,,ENST00000343801,;CCR5,downstream_gene_variant,,ENST00000445772,;RP11-24F11.2,intron_variant,,ENST00000451485,;	2466	116	130	SUCCESS
TPMT	7172	.	GRCh37	6	18130696	18130696	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	21	0	ENST00000309983.4:c.*203G>C			ENST00000309983	NM_000367.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4543.1	.	MUTECT|MUSE	.	AGCTACTTTAA	NONE	.	.	.	.	.	ENSP00000312304	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000309983	Transcript	.	.	ENSG00000137364	12014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPMT_HUMAN	TPMT	HGNC	.	.	UPI0000137261	SNV	TPMT,3_prime_UTR_variant,,ENST00000309983,;	1027	21	13	SUCCESS
PAQR8	85315	.	GRCh37	6	52270081	52270081	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	4	42	0	ENST00000360726.3:c.*1005C>A			ENST00000360726				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4941.1	.	MUTECT|MUSE|VARSCANS	.	AAAGTCCAGCC	NONE	.	.	.	.	.	ENSP00000406197	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000442253	Transcript	.	.	ENSG00000170915	15708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MPRB_HUMAN	PAQR8	HGNC	D6RCM7_HUMAN	.	UPI0000073877	SNV	PAQR8,3_prime_UTR_variant,,ENST00000442253,;PAQR8,3_prime_UTR_variant,,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;	2244	42	49	SUCCESS
FOXE1	2304	.	GRCh37	9	100617453	100617453	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	45	166	0	ENST00000375123.3:c.*135T>C			ENST00000375123	NM_004473.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35078.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCGGTCTCCC	NONE	.	.	.	.	.	ENSP00000364265	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375123	Transcript	.	.	ENSG00000178919	3806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXE1_HUMAN	FOXE1	HGNC	.	.	UPI0000167B2F	SNV	FOXE1,3_prime_UTR_variant,,ENST00000375123,;	1918	166	155	SUCCESS
NDUFA8	4702	.	GRCh37	9	124906393	124906393	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	12	21	0	ENST00000373768.3:c.*127A>G			ENST00000373768	NM_014222.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6835.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACATAAGTT	NONE	.	.	.	.	.	ENSP00000362873	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000373768	Transcript	.	.	ENSG00000119421	7692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUA8_HUMAN	NDUFA8	HGNC	.	.	UPI000013CA3A	SNV	NDUFA8,3_prime_UTR_variant,,ENST00000373768,;NDUFA8,intron_variant,,ENST00000537618,;	788	21	28	SUCCESS
LCN8	138307	.	GRCh37	9	139648897	139648897	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADB-01	TCGA-DD-AADB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	19	0	ENST00000371688.3:c.*53C>A			ENST00000371688	NM_178469.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35183.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGGGGCA	NONE	.	.	.	.	.	ENSP00000360753	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000371688	Transcript	.	.	ENSG00000204001	27038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCN8_HUMAN	LCN8	HGNC	.	.	UPI00000498C5	SNV	LCN8,3_prime_UTR_variant,,ENST00000371688,;LCN8,non_coding_transcript_exon_variant,,ENST00000479767,;LCN8,non_coding_transcript_exon_variant,,ENST00000482893,;LCN8,non_coding_transcript_exon_variant,,ENST00000480597,;	808	19	20	SUCCESS
SFXN2	118980	.	GRCh37	10	104497659	104497659	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	24	0	ENST00000369893.5:c.*140T>C			ENST00000369893	NM_178858.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7539.1	.	MUTECT|MUSE	.	ATGCCTCATAC	NONE	.	.	.	.	.	ENSP00000358909	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369893	Transcript	.	.	ENSG00000156398	16086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFXN2_HUMAN	SFXN2	HGNC	R4GN74_HUMAN,R4GMW0_HUMAN	.	UPI0000001241	SNV	SFXN2,3_prime_UTR_variant,,ENST00000369893,;SFXN2,3_prime_UTR_variant,,ENST00000480358,;SFXN2,3_prime_UTR_variant,,ENST00000459894,;	1276	24	30	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	21	26	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	26	36	SUCCESS
FLRT2	23768	.	GRCh37	14	86091296	86091296	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	97	44	139	0	ENST00000330753.4:c.*1455C>A			ENST00000330753	NM_013231.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9877.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGGCAATTG	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,intron_variant,,ENST00000553650,;	4205	139	141	SUCCESS
MYO9A	4649	.	GRCh37	15	72118837	72118837	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	45	0	ENST00000356056.5:c.*84A>G			ENST00000356056	NM_006901.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10239.1	.	MUTECT|MUSE	.	GACTATTGTGG	NONE	.	.	.	.	.	ENSP00000348349	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000356056	Transcript	.	.	ENSG00000066933	7608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYO9A_HUMAN	MYO9A	HGNC	H3BSU8_HUMAN,H3BMS3_HUMAN	.	UPI000013D213	SNV	MYO9A,3_prime_UTR_variant,,ENST00000561618,;MYO9A,3_prime_UTR_variant,,ENST00000568042,;MYO9A,3_prime_UTR_variant,,ENST00000424560,;MYO9A,3_prime_UTR_variant,,ENST00000564571,;MYO9A,3_prime_UTR_variant,,ENST00000356056,;MYO9A,3_prime_UTR_variant,,ENST00000444904,;MYO9A,downstream_gene_variant,,ENST00000568481,;CTD-2524L6.3,downstream_gene_variant,,ENST00000562658,;CTD-2524L6.3,downstream_gene_variant,,ENST00000561834,;CTD-2524L6.3,downstream_gene_variant,,ENST00000563041,;MYO9A,downstream_gene_variant,,ENST00000564699,;	8204	45	28	SUCCESS
WDR93	56964	.	GRCh37	15	90286658	90286658	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	49	0	ENST00000268130.7:c.*36T>C			ENST00000268130	NM_020212.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32326.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGTTTCAGC	NONE	.	.	.	.	.	ENSP00000268130	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000268130	Transcript	.	.	ENSG00000140527	26924	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR93_HUMAN	WDR93	HGNC	H0YL01_HUMAN,B4DXL7_HUMAN	.	UPI00001D77A7	SNV	WDR93,3_prime_UTR_variant,,ENST00000560294,;WDR93,3_prime_UTR_variant,,ENST00000268130,;WDR93,3_prime_UTR_variant,,ENST00000444934,;	2198	49	48	SUCCESS
USP43	124739	.	GRCh37	17	9632413	9632413	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	57	0	ENST00000285199.7:c.*106A>C			ENST00000285199	NM_001267576.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45610.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAATCTCT	NONE	.	.	.	.	.	ENSP00000285199	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000285199	Transcript	.	.	ENSG00000154914	20072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP43_HUMAN	USP43	HGNC	.	.	UPI0000047AFB	SNV	USP43,3_prime_UTR_variant,,ENST00000574408,;USP43,3_prime_UTR_variant,,ENST00000285199,;USP43,3_prime_UTR_variant,,ENST00000573955,;USP43,downstream_gene_variant,,ENST00000570475,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,;	3574	57	21	SUCCESS
PQLC1	0	.	GRCh37	18	77662651	77662651	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1447310599	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	12	0	ENST00000397778.2:c.*1325C>T			ENST00000397778	NM_025078.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12020.1	.	MUTECT|MUSE	.	GCAGCGTGGAA	NONE	.	.	.	.	.	ENSP00000380880	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000397778	Transcript	.	.	ENSG00000122490	26188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PQLC1_HUMAN	PQLC1	HGNC	K7ERD3_HUMAN,B3KW14_HUMAN	.	UPI0000073855	SNV	PQLC1,3_prime_UTR_variant,,ENST00000397778,;PQLC1,3_prime_UTR_variant,,ENST00000357575,;PQLC1,3_prime_UTR_variant,,ENST00000409073,;PQLC1,downstream_gene_variant,,ENST00000590381,;KCNG2,downstream_gene_variant,,ENST00000316249,;PQLC1,downstream_gene_variant,,ENST00000589000,;PQLC1,downstream_gene_variant,,ENST00000469369,;PQLC1,downstream_gene_variant,,ENST00000590895,;KCNG2,downstream_gene_variant,,ENST00000590307,;PQLC1,3_prime_UTR_variant,,ENST00000351365,;PQLC1,3_prime_UTR_variant,,ENST00000474967,;PQLC1,non_coding_transcript_exon_variant,,ENST00000466449,;	2324	12	11	SUCCESS
CCDC8	83987	.	GRCh37	19	46914269	46914269	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1009049069	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	13	0	ENST00000307522.3:c.*182T>C			ENST00000307522	NM_032040.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12685.1	.	MUTECT|MUSE	.	GTGAGACCCTG	NONE	.	.	.	.	.	ENSP00000303158	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307522	Transcript	1	.	ENSG00000169515	25367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCDC8_HUMAN	CCDC8	HGNC	.	.	UPI00000730F2	SNV	CCDC8,3_prime_UTR_variant,,ENST00000307522,;	2573	13	9	SUCCESS
GON4L	54856	.	GRCh37	1	155720274	155720274	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	34	104	0	ENST00000368331.1:c.*101C>G			ENST00000368331	NM_001037533.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44242.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATCTGTAAAC	NONE	.	.	.	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,3_prime_UTR_variant,,ENST00000437809,;GON4L,3_prime_UTR_variant,,ENST00000368331,;GON4L,3_prime_UTR_variant,,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,non_coding_transcript_exon_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	6947	104	142	SUCCESS
TROVE2	0	.	GRCh37	1	193028752	193028752	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs777424002	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	154	153	268	0				ENST00000367446	NM_004600.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1379.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCGGGAAC	NONE	byFrequency	412	.	.	.	ENSP00000356416	.	.	.	.	.	.	.	.	.	.	rs777424002	.	PASS	ENST00000367446	Transcript	.	.	ENSG00000116747	11313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RO60_HUMAN	TROVE2	HGNC	G5E9R9_HUMAN,D6RDN1_HUMAN	.	UPI0000072E7F	SNV	TROVE2,5_prime_UTR_variant,,ENST00000432079,;TROVE2,5_prime_UTR_variant,,ENST00000415442,;TROVE2,5_prime_UTR_variant,,ENST00000400968,;UCHL5,intron_variant,,ENST00000367452,;UCHL5,intron_variant,,ENST00000417752,;TROVE2,upstream_gene_variant,,ENST00000416058,;UCHL5,upstream_gene_variant,,ENST00000367448,;UCHL5,upstream_gene_variant,,ENST00000530098,;TROVE2,upstream_gene_variant,,ENST00000506303,;TROVE2,upstream_gene_variant,,ENST00000367445,;UCHL5,upstream_gene_variant,,ENST00000367450,;UCHL5,upstream_gene_variant,,ENST00000367454,;TROVE2,upstream_gene_variant,,ENST00000367444,;UCHL5,upstream_gene_variant,,ENST00000367451,;UCHL5,upstream_gene_variant,,ENST00000367449,;UCHL5,upstream_gene_variant,,ENST00000421683,;TROVE2,upstream_gene_variant,,ENST00000367443,;TROVE2,upstream_gene_variant,,ENST00000367446,;UCHL5,upstream_gene_variant,,ENST00000367455,;snoU109,upstream_gene_variant,,ENST00000458806,;TROVE2,upstream_gene_variant,,ENST00000460715,;UCHL5,upstream_gene_variant,,ENST00000483156,;TROVE2,non_coding_transcript_exon_variant,,ENST00000469214,;	.	269	307	SUCCESS
LDLRAD1	388633	.	GRCh37	1	54474628	54474628	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs566074960	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	72	183	0	ENST00000371360.1:c.*27G>T			ENST00000371360	NM_001010978.3			0	.	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS30725.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGCCTTCC	NONE	by1000G	.	.	A:0	.	ENSP00000360411	A:0	6/6	.	.	.	.	.	.	.	.	rs566074960	6/6	PASS	ENST00000371360	Transcript	.	A:0.0002	ENSG00000203985	32069	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LRAD1_HUMAN	LDLRAD1	HGNC	.	.	UPI00001D7D0D	SNV	LDLRAD1,3_prime_UTR_variant,,ENST00000371360,;LDLRAD1,3_prime_UTR_variant,,ENST00000420619,;LDLRAD1,3_prime_UTR_variant,,ENST00000371362,;LDLRAD1,3_prime_UTR_variant,,ENST00000545928,;	663	183	211	SUCCESS
SRA1	10011	.	GRCh37	5	139930054	139930054	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	13	21	0	ENST00000336283.6:c.*231A>G			ENST00000336283	NM_001035235.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34245.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCTTGGCA	NONE	.	.	.	.	.	ENSP00000337513	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000336283	Transcript	.	.	ENSG00000213523	11281	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRA1_HUMAN	SRA1	HGNC	.	.	UPI000006F5BC	SNV	SRA1,3_prime_UTR_variant,,ENST00000336283,;SRA1,intron_variant,,ENST00000602657,;EIF4EBP3,downstream_gene_variant,,ENST00000310331,;ANKHD1,downstream_gene_variant,,ENST00000297183,;ANKHD1-EIF4EBP3,downstream_gene_variant,,ENST00000437495,;ANKHD1-EIF4EBP3,downstream_gene_variant,,ENST00000532219,;SRA1,downstream_gene_variant,,ENST00000520427,;SRA1,non_coding_transcript_exon_variant,,ENST00000602775,;SRA1,downstream_gene_variant,,ENST00000523259,;ANKHD1-EIF4EBP3,downstream_gene_variant,,ENST00000474060,;SRA1,downstream_gene_variant,,ENST00000602875,;	1764	21	16	SUCCESS
PCDHB13	56123	.	GRCh37	5	140596187	140596187	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs782473103	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	142	169	0	ENST00000341948.4:c.*95C>T			ENST00000341948	NM_018933.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4255.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTACGGATT	NONE	.	.	.	.	.	ENSP00000345491	.	1/1	.	.	.	.	.	.	.	.	rs782473103	1/1	PASS	ENST00000341948	Transcript	.	.	ENSG00000187372	8684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBD_HUMAN	PCDHB13	HGNC	.	.	UPI0000047816	SNV	PCDHB13,3_prime_UTR_variant,,ENST00000341948,;PCDHB12,downstream_gene_variant,,ENST00000239450,;	2679	169	190	SUCCESS
CLDN12	9069	.	GRCh37	7	90044636	90044636	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADC-01	TCGA-DD-AADC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	55	0	ENST00000287916.4:c.*1911C>T			ENST00000287916	NM_001185073.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5618.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCTTTTT	NONE	.	.	.	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	SNV	CLDN12,3_prime_UTR_variant,,ENST00000287916,;CLDN12,3_prime_UTR_variant,,ENST00000535571,;CLDN12,3_prime_UTR_variant,,ENST00000394605,;CLDN12,downstream_gene_variant,,ENST00000427904,;CLDN12,downstream_gene_variant,,ENST00000496677,;CLDN12,downstream_gene_variant,,ENST00000394604,;CLDN12,downstream_gene_variant,,ENST00000416322,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000462636,;	2955	55	49	SUCCESS
JRKL	8690	.	GRCh37	11	96125619	96125619	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	15	82	0	ENST00000332349.4:c.*231A>G			ENST00000332349	NM_001261833.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8308.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACACATGTAT	NONE	.	.	.	.	.	ENSP00000389989	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000458427	Transcript	.	.	ENSG00000183340	6200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JERKL_HUMAN	JRKL	HGNC	.	.	UPI0000167818	SNV	JRKL,3_prime_UTR_variant,,ENST00000458427,;JRKL,3_prime_UTR_variant,,ENST00000332349,;CCDC82,upstream_gene_variant,,ENST00000542662,;CCDC82,upstream_gene_variant,,ENST00000538597,;CCDC82,upstream_gene_variant,,ENST00000278520,;JRKL,intron_variant,,ENST00000546177,;CCDC82,upstream_gene_variant,,ENST00000524836,;CCDC82,upstream_gene_variant,,ENST00000525786,;	2462	82	55	SUCCESS
SOX1	6656	.	GRCh37	13	112725179	112725179	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs200071648	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	51	73	1	ENST00000330949.1:c.*2031C>T			ENST00000330949	NM_005986.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9523.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCCCCTCTT	NONE	byFrequency|byCluster|by1000G	.	.	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	rs200071648	1/1	PASS	ENST00000330949	Transcript	.	A:0.0044	ENSG00000182968	11189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,3_prime_UTR_variant,,ENST00000330949,;	3267	74	88	SUCCESS
RRN3P2	653390	.	GRCh37	16	29086323	29086323	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs970983450	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	29	0				ENST00000427965				0	.	.	.	.	.	A	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCTGAGGC	NONE	.	17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000427965	Transcript	.	.	ENSG00000103472	37619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RRN3P2	HGNC	.	.	.	SNV	RRN3P2,non_coding_transcript_exon_variant,,ENST00000564580,;RRN3P2,upstream_gene_variant,,ENST00000427965,;RRN3P2,non_coding_transcript_exon_variant,,ENST00000415221,;CTB-134H23.3,intron_variant,,ENST00000567688,;RRN3P2,upstream_gene_variant,,ENST00000219758,;RRN3P2,upstream_gene_variant,,ENST00000566038,;	.	29	40	SUCCESS
ZNF841	284371	.	GRCh37	19	52568190	52568190	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	19	0	ENST00000426391.2:c.*170T>A			ENST00000426391				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46161.1	.	MUTECT|MUSE	.	GAACTATCACA	NONE	.	.	.	.	.	ENSP00000374185	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000389534	Transcript	.	.	ENSG00000197608	27611	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN841_HUMAN	ZNF841	HGNC	M0QYV6_HUMAN	.	UPI00001D818B	SNV	ZNF841,3_prime_UTR_variant,,ENST00000601738,;ZNF841,3_prime_UTR_variant,,ENST00000389534,;ZNF841,3_prime_UTR_variant,,ENST00000426391,;ZNF841,3_prime_UTR_variant,,ENST00000594295,;ZNF841,downstream_gene_variant,,ENST00000359973,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	3405	19	26	SUCCESS
LCE5A	254910	.	GRCh37	1	152484514	152484514	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	193	57	178	0	ENST00000334269.2:c.*147C>G			ENST00000334269	NM_178438.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1011.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTCACTCCAT	NONE	.	.	.	.	.	ENSP00000333952	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334269	Transcript	.	.	ENSG00000186207	16614	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE5A_HUMAN	LCE5A	HGNC	.	.	UPI00001615D7	SNV	LCE5A,3_prime_UTR_variant,,ENST00000334269,;CRCT1,upstream_gene_variant,,ENST00000368790,;	680	178	250	SUCCESS
PRKCZ	5590	.	GRCh37	1	2116583	2116583	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	12	19	0	ENST00000378567.3:c.*135G>A			ENST00000378567	NM_002744.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS37.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGGGAAGCG	NONE	.	.	.	.	.	ENSP00000367830	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000378567	Transcript	.	.	ENSG00000067606	9412	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPCZ_HUMAN	PRKCZ	HGNC	J3KRP7_HUMAN,F2Z2H9_HUMAN,D6RGG1_HUMAN,D6RG01_HUMAN,D6REZ8_HUMAN,D6RDM0_HUMAN,D6RD31_HUMAN,D6RCN4_HUMAN,D6RC84_HUMAN,D6RBD4_HUMAN,D6RAU1_HUMAN,D6RAN5_HUMAN	.	UPI0000169EB7	SNV	PRKCZ,3_prime_UTR_variant,,ENST00000400921,;PRKCZ,3_prime_UTR_variant,,ENST00000378567,;PRKCZ,3_prime_UTR_variant,,ENST00000400920,;C1orf86,3_prime_UTR_variant,,ENST00000400919,;PRKCZ,3_prime_UTR_variant,,ENST00000461106,;AL590822.2,upstream_gene_variant,,ENST00000597060,;C1orf86,downstream_gene_variant,,ENST00000378545,;C1orf86,downstream_gene_variant,,ENST00000378543,;C1orf86,downstream_gene_variant,,ENST00000400918,;C1orf86,downstream_gene_variant,,ENST00000378546,;RP11-181G12.2,upstream_gene_variant,,ENST00000536678,;RP11-181G12.2,upstream_gene_variant,,ENST00000333854,;RP11-181G12.2,upstream_gene_variant,,ENST00000444529,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000479263,;C1orf86,non_coding_transcript_exon_variant,,ENST00000469733,;C1orf86,downstream_gene_variant,,ENST00000476803,;C1orf86,downstream_gene_variant,,ENST00000401813,;C1orf86,downstream_gene_variant,,ENST00000487186,;C1orf86,3_prime_UTR_variant,,ENST00000414253,;C1orf86,3_prime_UTR_variant,,ENST00000428120,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000505322,;PRKCZ,downstream_gene_variant,,ENST00000478770,;C1orf86,downstream_gene_variant,,ENST00000440825,;C1orf86,downstream_gene_variant,,ENST00000497675,;	2075	19	14	SUCCESS
TFF3	7033	.	GRCh37	21	43732358	43732358	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	46	108	0	ENST00000518498.1:c.*8C>T			ENST00000518498				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33565.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGAGGTG	NONE	.	.	.	.	.	ENSP00000430690	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000518498	Transcript	.	.	ENSG00000160180	11757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFF3_HUMAN	TFF3	HGNC	.	.	UPI0000206BD4	SNV	TFF3,missense_variant,p.Pro87Ser,ENST00000398431,;TFF3,3_prime_UTR_variant,,ENST00000518498,;TFF3,3_prime_UTR_variant,,ENST00000291525,;TFF3,non_coding_transcript_exon_variant,,ENST00000489676,;	528	108	68	SUCCESS
YDJC	150223	.	GRCh37	22	21982571	21982571	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	20	0	ENST00000292778.6:c.*136G>T			ENST00000292778	NM_001017964.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33613.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCCCAGA	NONE	.	.	.	.	.	ENSP00000292778	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000292778	Transcript	.	.	ENSG00000161179	27158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YDJC_HUMAN	YDJC	HGNC	.	.	UPI00001613F8	SNV	YDJC,3_prime_UTR_variant,,ENST00000398873,;YDJC,3_prime_UTR_variant,,ENST00000292778,;CCDC116,upstream_gene_variant,,ENST00000607942,;CCDC116,upstream_gene_variant,,ENST00000292779,;CCDC116,upstream_gene_variant,,ENST00000425975,;UBE2L3,downstream_gene_variant,,ENST00000342192,;YDJC,3_prime_UTR_variant,,ENST00000415762,;YDJC,non_coding_transcript_exon_variant,,ENST00000482998,;YDJC,non_coding_transcript_exon_variant,,ENST00000464015,;YDJC,non_coding_transcript_exon_variant,,ENST00000468686,;YDJC,non_coding_transcript_exon_variant,,ENST00000473985,;UBE2L3,downstream_gene_variant,,ENST00000496722,;	1158	20	17	SUCCESS
ARPC2	10109	.	GRCh37	2	219118779	219118779	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	35	0	ENST00000295685.10:c.*141A>G			ENST00000295685	NM_005731.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2410.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAAAATAATC	NONE	.	.	.	.	.	ENSP00000295685	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000295685	Transcript	.	.	ENSG00000163466	705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARPC2_HUMAN	ARPC2	HGNC	Q53R19_HUMAN,C9JTV5_HUMAN	.	UPI0000125D3D	SNV	ARPC2,3_prime_UTR_variant,,ENST00000315717,;ARPC2,3_prime_UTR_variant,,ENST00000295685,;ARPC2,3_prime_UTR_variant,,ENST00000456575,;RP11-378A13.1,upstream_gene_variant,,ENST00000562328,;ARPC2,non_coding_transcript_exon_variant,,ENST00000487321,;ARPC2,non_coding_transcript_exon_variant,,ENST00000477992,;ARPC2,non_coding_transcript_exon_variant,,ENST00000470146,;	1305	35	23	SUCCESS
PARP14	54625	.	GRCh37	3	122447665	122447665	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	14	0	ENST00000474629.2:c.*221A>T			ENST00000474629	NM_017554.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46894.1	.	RADIA|MUTECT|MUSE	.	AATGCAGTTGC	NONE	.	.	.	.	.	ENSP00000418194	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000474629	Transcript	.	.	ENSG00000173193	29232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PAR14_HUMAN	PARP14	HGNC	.	.	UPI00015A20AB	SNV	PARP14,3_prime_UTR_variant,,ENST00000474629,;PARP14,3_prime_UTR_variant,,ENST00000460683,;	5893	14	10	SUCCESS
MFSD10	10227	.	GRCh37	4	2932347	2932347	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	28	0	ENST00000329687.4:c.*218T>G			ENST00000329687	NM_001120.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3365.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAAACAA	NONE	.	.	.	.	.	ENSP00000332646	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000329687	Transcript	.	.	ENSG00000109736	16894	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFS10_HUMAN	MFSD10	HGNC	.	.	UPI0000073302	SNV	MFSD10,3_prime_UTR_variant,,ENST00000508221,;MFSD10,3_prime_UTR_variant,,ENST00000507555,;MFSD10,3_prime_UTR_variant,,ENST00000355443,;MFSD10,3_prime_UTR_variant,,ENST00000514800,;MFSD10,3_prime_UTR_variant,,ENST00000329687,;ADD1,downstream_gene_variant,,ENST00000398125,;ADD1,downstream_gene_variant,,ENST00000536424,;ADD1,downstream_gene_variant,,ENST00000541843,;ADD1,downstream_gene_variant,,ENST00000398123,;ADD1,downstream_gene_variant,,ENST00000446856,;ADD1,downstream_gene_variant,,ENST00000355842,;ADD1,downstream_gene_variant,,ENST00000514940,;ADD1,downstream_gene_variant,,ENST00000513328,;ADD1,downstream_gene_variant,,ENST00000398129,;ADD1,downstream_gene_variant,,ENST00000264758,;ADD1,downstream_gene_variant,,ENST00000503455,;NOP14-AS1,upstream_gene_variant,,ENST00000515194,;NOP14-AS1,upstream_gene_variant,,ENST00000505731,;NOP14-AS1,upstream_gene_variant,,ENST00000507999,;NOP14-AS1,upstream_gene_variant,,ENST00000512712,;ADD1,downstream_gene_variant,,ENST00000538860,;MFSD10,3_prime_UTR_variant,,ENST00000503596,;MFSD10,3_prime_UTR_variant,,ENST00000507272,;MFSD10,non_coding_transcript_exon_variant,,ENST00000514031,;MFSD10,downstream_gene_variant,,ENST00000509676,;ADD1,downstream_gene_variant,,ENST00000539149,;MFSD10,downstream_gene_variant,,ENST00000512781,;ADD1,downstream_gene_variant,,ENST00000541051,;MFSD10,downstream_gene_variant,,ENST00000508276,;ADD1,downstream_gene_variant,,ENST00000503062,;ADD1,downstream_gene_variant,,ENST00000513762,;	2121	28	18	SUCCESS
NELFE	7936	.	GRCh37	6	31918947	31918947	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs748835111	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	28	71	0				ENST00000375429	NM_002904.5	628		0	.	.	.	.	.	G	I/V	protein_coding	YES	.	3388	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGATATCAAA	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000410815	.	27/30	.	.	.	.	.	.	.	.	rs748835111	27/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(1)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Ile169Val,ENST00000483004,;CFB,missense_variant,p.Ile1130Val,ENST00000456570,;CFB,missense_variant,p.Ile979Val,ENST00000477310,;CFB,missense_variant,p.Ile1130Val,ENST00000556679,;CFB,missense_variant,p.Ile628Val,ENST00000425368,;NELFE,downstream_gene_variant,,ENST00000436289,;NELFE,downstream_gene_variant,,ENST00000375425,;CFB,upstream_gene_variant,,ENST00000498317,;NELFE,downstream_gene_variant,,ENST00000444811,;NELFE,downstream_gene_variant,,ENST00000375429,;NELFE,downstream_gene_variant,,ENST00000426722,;NELFE,downstream_gene_variant,,ENST00000441998,;CFB,downstream_gene_variant,,ENST00000475617,;NELFE,downstream_gene_variant,,ENST00000454913,;CFB,downstream_gene_variant,,ENST00000497841,;CFB,non_coding_transcript_exon_variant,,ENST00000482312,;CFB,non_coding_transcript_exon_variant,,ENST00000467360,;CFB,downstream_gene_variant,,ENST00000465750,;CFB,downstream_gene_variant,,ENST00000452035,;CFB,downstream_gene_variant,,ENST00000460718,;NELFE,downstream_gene_variant,,ENST00000492539,;CFB,downstream_gene_variant,,ENST00000472581,;NELFE,downstream_gene_variant,,ENST00000488426,;NELFE,downstream_gene_variant,,ENST00000494956,;CFB,downstream_gene_variant,,ENST00000482886,;NELFE,downstream_gene_variant,,ENST00000492185,;NELFE,downstream_gene_variant,,ENST00000481121,;NELFE,downstream_gene_variant,,ENST00000491139,;CFB,downstream_gene_variant,,ENST00000461483,;CFB,downstream_gene_variant,,ENST00000467150,;	3443	71	49	SUCCESS
BHLHE22	27319	.	GRCh37	8	65495118	65495118	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	86	202	0	ENST00000321870.1:c.*625A>G			ENST00000321870	NM_152414.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6179.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTATTGTC	NONE	.	.	.	.	.	ENSP00000318799	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321870	Transcript	.	.	ENSG00000180828	11963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BHE22_HUMAN	BHLHE22	HGNC	.	.	UPI0000070A3C	SNV	BHLHE22,3_prime_UTR_variant,,ENST00000321870,;RP11-21C4.1,upstream_gene_variant,,ENST00000517909,;	2305	202	221	SUCCESS
RRS1	23212	.	GRCh37	8	67342751	67342751	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADD-01	TCGA-DD-AADD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	141	99	180	0	ENST00000320270.2:c.*287T>G			ENST00000320270	NM_015169.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6189.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTTTTTTTTTC	NONE	.	.	.	.	.	ENSP00000322396	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320270	Transcript	.	.	ENSG00000179041	17083	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RRS1_HUMAN	RRS1	HGNC	.	.	UPI0000134B8A	SNV	RRS1,3_prime_UTR_variant,,ENST00000320270,;ADHFE1,intron_variant,,ENST00000523113,;ADHFE1,upstream_gene_variant,,ENST00000415254,;ADHFE1,upstream_gene_variant,,ENST00000396623,;ADHFE1,upstream_gene_variant,,ENST00000379385,;RP11-346I3.4,upstream_gene_variant,,ENST00000499642,;ADHFE1,upstream_gene_variant,,ENST00000496501,;ADHFE1,upstream_gene_variant,,ENST00000422166,;ADHFE1,upstream_gene_variant,,ENST00000449512,;ADHFE1,upstream_gene_variant,,ENST00000424777,;ADHFE1,upstream_gene_variant,,ENST00000466920,;ADHFE1,upstream_gene_variant,,ENST00000443372,;ADHFE1,upstream_gene_variant,,ENST00000419955,;ADHFE1,upstream_gene_variant,,ENST00000426810,;ADHFE1,upstream_gene_variant,,ENST00000276576,;ADHFE1,upstream_gene_variant,,ENST00000431959,;ADHFE1,upstream_gene_variant,,ENST00000463261,;ADHFE1,upstream_gene_variant,,ENST00000396621,;	1489	180	240	SUCCESS
CC2D2B	387707	.	GRCh37	10	97792415	97792415	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	44	0	ENST00000344386.3:c.*653del			ENST00000344386	NM_001001732.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS53560.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAAATAAAATA	NONE	.	275	.	.	.	ENSP00000386988	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410012	Transcript	.	.	ENSG00000188649	31666	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	C2D2B_HUMAN	CC2D2B	HGNC	.	.	UPI0001A4205F	deletion	CC2D2B,3_prime_UTR_variant,,ENST00000371198,;CC2D2B,3_prime_UTR_variant,,ENST00000344386,;CC2D2B,downstream_gene_variant,,ENST00000410012,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000451364,;ENTPD1-AS1,intron_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000449197,;RP11-690P14.4,3_prime_UTR_variant,,ENST00000475252,;	.	44	47	SUCCESS
TPH1	7166	.	GRCh37	11	18042407	18042407	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	30	0	ENST00000250018.2:c.*131A>C			ENST00000250018	NM_004179.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7829.1	.	RADIA|MUTECT|MUSE	.	TTCCTTAAGTA	NONE	.	.	.	.	.	ENSP00000250018	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000250018	Transcript	.	.	ENSG00000129167	12008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPH1_HUMAN	TPH1	HGNC	B3VS10_HUMAN,B3VS05_HUMAN,B3VS00_HUMAN,B3VRZ5_HUMAN,B3VRZ0_HUMAN,B3VRY5_HUMAN,B3VRY0_HUMAN,B3VRX5_HUMAN,B3VRX0_HUMAN,B3VRW5_HUMAN	.	UPI000013CC9C	SNV	TPH1,3_prime_UTR_variant,,ENST00000250018,;TPH1,intron_variant,,ENST00000341556,;RP1-59M18.2,intron_variant,,ENST00000525523,;TPH1,downstream_gene_variant,,ENST00000525406,;TPH1,downstream_gene_variant,,ENST00000417164,;	2029	30	11	SUCCESS
GLT8D2	83468	.	GRCh37	12	104383155	104383155	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs751300162	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	32	71	1	ENST00000360814.4:c.*31T>C			ENST00000360814	NM_031302.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9096.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTATACAG	NONE	.	.	.	.	.	ENSP00000354053	.	11/11	.	.	.	.	.	.	.	.	rs751300162	11/11	PASS	ENST00000360814	Transcript	.	.	ENSG00000120820	24890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GL8D2_HUMAN	GLT8D2	HGNC	F8VZP2_HUMAN	.	UPI000004B633	SNV	GLT8D2,3_prime_UTR_variant,,ENST00000548660,;GLT8D2,3_prime_UTR_variant,,ENST00000360814,;GLT8D2,3_prime_UTR_variant,,ENST00000546436,;TDG,downstream_gene_variant,,ENST00000542036,;TDG,downstream_gene_variant,,ENST00000544861,;TDG,downstream_gene_variant,,ENST00000266775,;TDG,downstream_gene_variant,,ENST00000392872,;AC078819.1,downstream_gene_variant,,ENST00000401157,;TDG,downstream_gene_variant,,ENST00000536395,;GLT8D2,downstream_gene_variant,,ENST00000552572,;TDG,downstream_gene_variant,,ENST00000542926,;TDG,downstream_gene_variant,,ENST00000540956,;	1487	72	82	SUCCESS
NPAP1	23742	.	GRCh37	15	24925259	24925259	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	16	0	ENST00000329468.2:c.*774T>C			ENST00000329468	NM_018958.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCTTAGCCT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	4719	16	18	SUCCESS
NPAP1	23742	.	GRCh37	15	24927327	24927327	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	48	134	1	ENST00000329468.2:c.*2842G>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCCTGA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6787	136	117	SUCCESS
SPN	6693	.	GRCh37	16	29679149	29679149	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs952423819	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	13	0	ENST00000360121.3:c.*2897T>C			ENST00000360121	NM_001030288.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10650.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATGCACC	NONE	.	.	.	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,3_prime_UTR_variant,,ENST00000360121,;QPRT,intron_variant,,ENST00000449759,;SPN,downstream_gene_variant,,ENST00000436527,;SPN,downstream_gene_variant,,ENST00000395389,;SPN,intron_variant,,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;	4192	13	17	SUCCESS
ALDH16A1	126133	.	GRCh37	19	49973731	49973731	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	92	0	ENST00000293350.4:c.*7A>G			ENST00000293350	NM_153329.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12766.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGAGCGCC	NONE	.	.	.	.	.	ENSP00000293350	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000293350	Transcript	.	.	ENSG00000161618	28114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A16A1_HUMAN	ALDH16A1	HGNC	F8WBH3_HUMAN	.	UPI000013E0FF	SNV	ALDH16A1,3_prime_UTR_variant,,ENST00000293350,;ALDH16A1,3_prime_UTR_variant,,ENST00000540132,;ALDH16A1,3_prime_UTR_variant,,ENST00000455361,;ALDH16A1,3_prime_UTR_variant,,ENST00000433981,;FLT3LG,upstream_gene_variant,,ENST00000595510,;FLT3LG,upstream_gene_variant,,ENST00000600429,;FLT3LG,upstream_gene_variant,,ENST00000597551,;FLT3LG,upstream_gene_variant,,ENST00000344019,;FLT3LG,upstream_gene_variant,,ENST00000204637,;FLT3LG,upstream_gene_variant,,ENST00000596435,;FLT3LG,upstream_gene_variant,,ENST00000594009,;CTD-3148I10.15,upstream_gene_variant,,ENST00000595815,;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000594549,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,intron_variant,,ENST00000599536,;FLT3LG,upstream_gene_variant,,ENST00000600084,;FLT3LG,upstream_gene_variant,,ENST00000601800,;FLT3LG,upstream_gene_variant,,ENST00000593422,;ALDH16A1,downstream_gene_variant,,ENST00000600265,;	2579	92	77	SUCCESS
AMY2B	0	.	GRCh37	1	104114144	104159980	1	splice_acceptor_variant	Splice_Site	DEL	GCTAATATTTACTTTGTAAAATGTGCTTCTTACAGGAATATAAATAGTTTCTGGAAAGGACACTGACAACTTCAAAGCAAAATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAATACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCTCTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTGGGTATGATTCATAGTATCAATTGCAGAATTCACTATGCTTGTAGTAAATAGTATTCTGATCTTATCCGTGAAGCTTAGGCAACATTTTACTTCACAGGTAAGTATTCTAAGTAAGAGTTTTCTGAGGAAAAAACAATGTAGTATTCTTGGCAACTTTATATTTTGTTTCTGAGATAATCTTTCTTCAACAAGAGCCCTCCAATGTGCTGTTAATATTTTCAAGAGATAGCTGCATATACCAAGATTCAAGAATTTTTTATATTATTGATTAGTTTCTAGAACATTCAATGATATAGAGTAAGAATTTGGTAGTTATGAAGACTGTTTAATTTGTAGGTCTCTCCACCAAATGAAAATGTTGCAATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTTAGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGATGTAACAATGTTGGGGTAAGTGAATTCTAGTTTCCTTGAAAAATAACAGATAGGAAAATGATTTCTCTCTCTTCTTTCTTGCTCCTTTTCAGCAGAAAGTTTTCCATATTTTATTTTTTTAATTTTACTTCATACTTTAAAACTCAAAATTAACCGTTGCCTTATGTTCAGCTTTTGTAAATATTTGTGTATGTGCTCTCTATCTACCAAAGAAACAAGTTTAAAGCAGAATTTACTTCTAAAGCAAAACATCAAATTTTAACTTTTATACCTATCTATATTTCCTGGAAAGAGTTTTCTGGTTAAGAGTTATAATTCCAGTTACAATATTTGCTATCATTTTTAGGTGACTTGTATCTCCATCCATAATTCCTGGGTTTTTCGTGGTGACTAGCTAGCTTCTCTATTTAATGAGGAGCATAATTTGAGACTAATAGCTCCCTTATTTGTCTTCAAAAGCTTAGTAGAGAGTACAGGCTTTCTCCTGGTGACCGACTGTAATTTCCAAAACAGTAACCTTTCCAGTCTCATCTGAGTTTTGTCTCCCCGAAATGGGCTTTTTGCATTTCCTCCTATTTATGGTAGTTTCTGGTTCTCTCAATTTACCATTACTATAAATATTTGACCAAGTGTCTAGAAGGCATGTAGGTGTTTAGTTCACATTACTTCTTCACAGTTGATTTTTGATCTTGTAGGAAAATAGTTATAAGATATCATGAAATATTTTGGAGTTTTATTAACATACTATAAACTTGAATCAATAATGCTTTAAATTTCTGCCTCTCTGTAAGTCACACTGAAGTAGAAACTTTGCTTTCTAGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTCTGGTAATGCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGACTTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGTGGAGATATCGAGAACTACAATGATGCTACTCAGGTAAATTTTTTTATGAGAGTCATCTGAATAAGGGGTGATATATGCCTTTTCTTGTAGACATGTAGCTAATTGAACTTCATTTTAAATACGAATTTAGATCTCTTAGGGACACAGGTTAACAGGTTTGACTACTTTAAGAAACTCAAATCCATATTTAAAAACTTAAATATAGATTTAAGATTTTTAATCAATACACATTTGCCCACTTTTAAAAAGCTCCCAACCAATTAAAAAGCTCGTCGACTTTATTTCCTAAATTCTCTATTTTCTATTAGAAAATATTTCCAAGATACATCTATAGTAGAATGTGAGCATCCCCAGCGCCCAATGCAAGGAAGTCACTATAGAATATCTCTTGAGGAATCATGGAATAAATGAATAATCAAATGGATTCTCATGTGAAAAATGAGGTTTTATGAATCAATCATAACATTTTTACCTCAACAGGTCAGAGATTGTCGTCTGGTTGGTCTTCTTGATCTTGCACTGGAGAAAGATTATGTGCGTTCCAAGATTGCCGAATATATGAATCATCTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGAGACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGAAGTAAACCTTTCATTTACCAGGAGGTACATCAATACATATATGCATATAAAATATCATCTTATTCATTAGAAAATAATGGCAGATTTAATTAAAAATGCAATTTCTATAGGATAAGGACTGAGTCATTTATATAAAATGGTGTTCTTTAACCTCCTCTTCACATACAGCATATCTAATTCTTTATCACAAACAAAACAAAACAAGACAAAAAGAAATAATAAATAGCTTAATTTATTAATAAATAACAAATAGCTTAAAGCTATCTTTTATATAATATTAACTTATTGGTTAAAATGCTTTAAAGTCCTTATGCAAAATGTTACTTTTTCCTAATTTTCTACTAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTTATTCGCAAGTGGAATGGAGAGAAGATGTCTTACCTAAAGTAAATAAATACAACTTTTCCCCTGAAGTATTTCATAGATTTATTAGTCATAGTACCCCAGTGTGAGTTATCTTCTGGAACATTCTTTTTCAGACAACTATCAAGGAGTCAATTGTTAATGATAAGTATTCTAGTGCCCTAAACTCTAATCAATCATCTTTTGTATTTAGAGTGTCTATCACAAGTGAGTATGCCTAGGAACGCTAAACATATCCTAGGAGTTTCCGTCTAAGTACGAGATGAATATACTGGATTTGACTGATGTTTGCATATAATCTTTTAAAGCCAGGTTATTATTAAAATGATCCTATCATTTATAAAGTATGTACAAAGTTTCCATACTGTAGAATTTACATATATTATATGAATTAAAAATATAAAAATATTTATATTATAACAATACAGTATTGAAGCCTTATTTTAACCTAGTTTGACATTCCGTAAAATGTGATATGGATATTGATCCTTCTGGAGTGCCTCTAAATGATAATGTGCTGAAACCTCTGAAAGGACCTTTTTTAATAACAAAAATCTTATATTTGTAATATGAATATAAGTATTCCATACTTGTATATACGAATATAGACTACATATGTAGATTACACACGTGTGTGTATATGGTGTGTGTGTGTATATATATTTGAGTGTGTGTTTGTGTGTGTGTATGTATATATATATATATATATATATATCTTACAGAATAACCATTTAATTAGAGAAAGAATTTAATCTTCAGATGCCATGCCATGCAGAAAGAGATGCACAGTTAAGTTACTCGCAAACTATTGTGAAATGATACATCAACATATATCTTATTTTTCAAAAATAGGAACTGGGGAGAAGGTTGGGGTTTCATGCCTTCTGACAGAGCACTTGTCTTTGTGGATAACCATGACAATCAACGAGGACATGGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGTAGAAAACCAAGTTCTCTATTTTTTTTAACACATCTTTTAATGATGGTAATGATATTCTGATATTCTGTGATAATATAATTATGTAACTTTCAGGCTGTATAAAATGGCAGTTGGATTTATGCTTGCTCATCCTTATGGTTTTACACGAGTAATGTCAAGCTACCGTTGGCCAAGACAGTTTCAAAATGGAAACGTAAGTTTTGAAATTGTTCAAACTATCCTTTTCTCAAGAAACAGAAGGCAATCTTGTTCTAACTTAATATGACAACTATTAATTATATATTCAACAAATAATTGATTAGAAACCTGATATAGGGCTGCGATTTTAGTAATGCAGGTTATATTAAAGGAGTAAAATATATATTTTCCATTGACAAAGAGTATGCAAGCCTTTTCAGACATATGATAAACATCCCCCTAGCCCACAGGAAAAAAAAAAAAACCACTTAAAAATAAGAGCTAGGCACAGGGATTAAAATATATACTTCGAATAAGTACCTACCTCAGGGTTAATAGGAAGATTATACATGCCAACACTTTTAGAGAACTTAAAACATCATCTGCCCACAGTAAGAACAATATAAATGTTCGTTAAATATTTTTAAAAAGTTATATGGAATACAAAAAAATGATTCAGTTGAGCTGAGTTAAATAGGGAAAAGTATCTAATAAGAGGAAGGAAATTATATGTACTAAAGAATGGAAATTTAGAGAGTATTCCAAGAAAGGTAAGAATGAGAAAAATATTTGGGAGTATGGTAAAGACATTTATCTGATGAGTAGTTTCAAAAAGGAACAGAGAAATAAGAGTGTACAGATATTTGGAAAGCTAGTAGAAGGTTTTCTTTAAACTAAAGGGTTCAGAAACAGCATCAGAGACTTCAGATCTAAAGCAGAAATTCCTCCTTCCTCTGAGTCACACAGATATCTAGCTAGCTTTTTTTAGATTCCTTTCAGTTTGAGAAGTCTGTTACTTTGTATAGCAACTGATTCTATTGTTAAACAGCTTTAATATTTAGGTGTACTTTTATATTGAGCCAACTTATCATGATTTCTACTAATTGGTCTTATTTCTGATGTTAAGGGTCACAGAGTATTTTTATTTTTTCTATCACTATAACTTTTCCACTTTCCAGGACTGCTGCATGCTAAAAACTCTTAGTTTTGTTCACTTTTCACCATATGACATAATTCTAAGGTCAACACTGAAAAACTTCCTAGGGTTACTCTGGTTTTTTTAATTAAGATTTTTTAAAGTGCCAATCAGAAAAACATAATATTAAAACTGGTGTCAATTTATAAAAAATGTTCTGATGTATTGTTTTGTACAATTATCTAAACAGAAGCATGATGGACTCTAATATTTATTGAGCACATGTCACGTTCAAGGCATTTTCACATATATTACTTAATTTTTATAGCAAAAAAACAATATTCCCATTTTACAAATGAGGAAACTGAGACACAGAGAAATTATGTATGTTGATTAAATTTTCTTAGCTACTGTTAATAGAGCCTATGTTTTAATCCTGGTGTTTCTGGTACTAATGCCCTTCCCATTTCAATGACATTGCATGGCTTACAGTGATGTTAAGAAGCCCTTGCAGGCCAGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTGGCGAGTCCAGGCGAGAAGATCAGCTGACCTGAGGAGTTCAAGACCTATCTGGGCAAGCTAGCAAGACCTCGTCTTTACTGAAAATTTTTTAAAAATTAGCTGGTTGCGGTGGTGCACACCAACAGTCTTAGCTACTTAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGATCAAGGCTGCAGTGAGCTATGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAAGAAGCCTTTGCAGTTCCTTGGAATGAAAAGGAGAGGATAACAATTTGTTACCTTTGTTTGAAATATGGCAAAAGAGAACCAGAGGATAGAGAGATGATGAAGACCCAGTAAAGGGCTATAAAAATTATTGAAGGCATTGGATTCTAGATAAAGTCATTGAATGCAGAGACACAAGTAACAGGATAGGTTGGGTTTGGTTTAAAGGAGAAGGAAGAGGTAAATATATGTATGTTAAAATTTGGCTTTTCACCCCCTAATTAAGGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGAGTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAACATCGATGGCGCCAAATAAGGTGAGAATATGTATTTAGACATGTCCTCTAATAGTAAACTTTCCATTGCATTTTATTTAAAACAGTTGAAGTTTAAGAATATCAACGTTTTATATGGTATTGTGTTTTTAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCTTTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGATTCATTGTTTTCAACAATGATGACTGGTAAGTACATATCAATTAAAAATAATATTTTGTACCTGTATGCTCTTGGTTTATTCCTTTTTTTCTGTTCATTGACATTTATCATATCTGAAAAATCATGTAGTCAGTGGAGCAAGAAGACAATAGACATCAAAATTGGGCAGAAGTAAAAAGATGATGGCTGTTACTCCTTCATTCTCCTGTTTTATTAAGGGCTTTCTGTTGTAAGCAGAGTCCTTTCTGTGCACCCTTGCAATATCTTATGCATATATTGAATGCACATACATATGCTCACCTACACATGCCACAAAATACACAAAGTAGTTAATATGAGGATTGTGAAATCATTAAAAGAACATGTCTTATATTCCTGTTTTTTTAATCATGGAAAAATGCTGCCTGAGTACTAATATATCTTTATTTCTAACTCTTTTTCTCAATGACTGCTCTATGTAGTTTTTTGGTATACTTTCTTCACTTCTCTGTCTCCTTGTGACAAATAATATTTTTAAAGCATATGCATAAATAATATGTATCTTGTGGTTAATGATTGGCTTCAGGGGATTTGAGTTTTAGTTCCGAAACTTCTCATTATTGGCCTTTCATCTGTGATTCTTATATCCTTTACTGAAGTATAAATGATTCCCTAACCTATAGCTCAGAAGACCTCGTTGCAAACAGTTGAATTGTCTCTGTCCAAAGCCAACTGATACTCATACTTAGCTCATTCTAGTATAAATTATATTTCACTGATGAAAAATAAATAAATACATAAATACATAAATCTAGTTGATCTCTTTCCTGCCAAAAAAGCCCATGTCTAGTTCTTTAATTTCTTTCTTTTGTGGATGAAAATACCAAAATAAATTTTTGTGAGAAAGCTTTATATTTCAAACTATCACTTCTTCATAGAAATGCTAGATTGTTTCTATGTATGCCCCAAATTCTTTTTTACCTTATGGGGAAAAAAGGAGATTAAAAAAATAAAACCCTTTAAAAATTTTTTTTTAAATTATACTTTAAATTTTAGGGTACGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACCCTTTAAATTTTTAAAAGTAATTTGTATTAAGTTCAGTTGAGAACAAATTTGATTTTAACAAGCTAGCACTTTTATCAAAGTGTGACCATTCCTGCCAATCTTCAGTGATATTCTTCAACTTTGATTTTTTGGTAATATTTTCACTACGGACCAGGGAACTGCTACATTTTCTGTAAGGTTACTTTTGGTCCTAGAAAGCTATTTACAACTACTAGGGAGGCATATGGGTTTTCTTCTTAATGAGACTTCACTGCTTAGGGTTCTACAACATAAAGTTATGCTGTTTAGTTGTGTTAGCCTGTATTCTTGATTTTCAGTGTATTGAAGTTAAATCTGAAATTTTATTTTACAGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATTAAAATCTACGTTTCTGACGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAGGATCCATTTATTGCAATTCATGCTGAATCTAAATTATAAAATTTAAAATTAAATGCATATCCTCAAAACAATAGCCAAGTGTGTTTCTTTTCTTACATATACAGTAATACTTATATTTCATTAATTTTTAGTAAAAGCTCTAATTAGTAATCAACTTGTAAAATTCACAAAAAAACCAATAGTATTAAAATCCCACTTAATTGTTGAATAAGTGTAAGATAATAATAGTCAGCAAGTTGTTATGCTTTAGAAGACTGACTTTAACCTATTTAAGCTATGAACTCAGAAAAGCATCTCAACCAATATGTTTGTTGCCATTAGCATCATTTACCGAGCTGTGTACCTTTAATTTCTGCCATTCTATAATCCTTCCAAGGAGTGTTTTTATCAGTTAGTTAGGGATAGCTGGTTTAATGCTGATTCCCATGCAAAGTTAGCCCGGTTGTATGCTTTTTATAATATGCAAGTACTTCTGGTGTTAATAAGGTTAAAAAATAGAAGAAACCTAAATTATACAATCTACAGTTATCAGTTCTATTGAGCTCACTGGAATCTTCTCCTACTTTATAGACTTCCTTCTTTTTCATTTTTTTCCTAATTGCTTAGACTTGTTGTATATGACTTTTTGTTCTTTTTCTTATTCTACAATCTGGATATTTATTTAGGGCTTTCATGACACCTTGTAGTCTGGGTTTTCTTCCCAATTCTCTACCTATTCATTCTTCTTCATCTTGACTTTACATATGGAATTCATTAGGGCTCTCATCTAGGTTTCCTTATAACTCTCAGTTGTTTTGTTTATGCTTAAATGAGAACATAGAGGCCATAACTCAGAAACTGTCTATTCTTCACCTATAAATTGTCCCTGCCACAAAGCAGATTCACTGTGCATTGGTACCACTTCGGCTCACTGCATCTTGGGCTGCAGTTTCTACTACTTAAGATTGAGTCCAGTGATTTAGAACATACACACAAAAAGTTGCATGAAGCAGGCTTATTGCTTATAGATAGGCATCAAGTGACACAGAAGCCCGGCGTTCAGGAGGAGCCAGCCTCCCAAGACTCAGACCGTTTGCCCAGGGTGTTGAAGACTCATTTGCACATGCCCTATTTGTACCACAGCTGAGGGACCCTTGAAAGAAGCCTGCCCCGTGTTTTATAACCCAGGCATCCCATGATACACTGGGCTAAAGCACTTAAGGAAATGTTCTAAGAGGCACAGTAAGAGAGTCTGAGACTTATCTCAGGATGTTGCATTCCCAGCTCATTCTACAGCTATTCTTGAGATGCACAAGTTATAGAGGAGGAAAACCTGGGTTGCTCCAAGGCCACTTGGAGAGTTGTCCTGCATTTCCTCTAGCATTTTCCTTTTTTTTCTCCTATTACAATAAAGAAAGTACATGTCATTCTAAGAAAGGCCATTTTCTCTGCTTAAGTTAATGATACCATTCCATTTTTATCTTTTGGAGGACTTTAGATTATCCTCCCTCTTTTGATTTAGCAGTCTTTCCCTTTCTTCTGCATTAGTCATCCTAGATTACATGTATTACAGTCTTCCAATTAAAAACATCAATGACCATCCTCAGATATTCTTCTGGGTATATTACTTTGCTCATTTCCTTGCTCCCTCTCCTAATTAAACATCTCTTTTTATCACACTGTCTCCACATCCTCAGCCTCCGTCATTATTCATCTCTCTACTGTCCAGTTTTCACCATTATCACTTCATTCAGTCTGCTCTTGTCAACATCATGAGTGACATTTATGTTACCAGTCCAATATATTTCTCTGTCCTCACCTTAAACCACTTCATAGCAGTATTAATGATGGTGGGTCACTTTCTCTTTCTATCTTCCTTTTTTCGTGTTATTCTACTCTCCTGGTTGCCTTCTGTCTCATTGATTGCTCTGTTTCAGGTTTTTGTTTTTTTTTTTATCTTATTCTTAGGTGGATCATCTTATTCTGTTCCACCTAAGTCCTAACTTTTATCTATTTCTCTTCTTTATCTTCTCTTCTCTAGGTGATTGGAATCATTTCCATGGATTTTAAACAAATATTTTCTGTGGACACCTAGGTATCTTCAATTCAGAACTTGGACTTCAGCCTCATACTTCCATCAGATGCTTGTTATCACCACTTCCATGTTCCACAGACATCTCATAATTAACATATTTAAAATGGAACCCTCATTTTTTTTCCTTGCATAAACCTTTTACTACATTATTTTCTTACTGCTTAGAAACCCAGGATATTTTCTGATTTATCTCTCTTAGCTCAACAACTTTATCTCTTCATATAAACCTTAGCATGAACTATTAATTGTATCTTCAAAATATCTCTTCATTTATTGCACTTCTTTTGTATCTTCTATCACCCCTTTATCCAGCTCACAATTATCTGTTCTCTGCATTCCAAAACAACTCTGCAACTGGTCTCCTATTTCCATTATTTTACTGTCTCCCTTTATTTTACTAAAGACCACAACATTATATTCATACAATTTAAATCCAATTAAAATGTTAATGCTTAAAACTCTTAAATTTTTATTGCATTCAGAATAATTCTAACCACTCATGGTAGCCTACAAAATCACACCTTATCAGACATGAACCTCAGTTCTATTCTTTTCCCTTGACAATCCCATAGCCTTAGGTATTCTGGTCTTTCGTCATTTTATTAAATATGCCATGTATTTTTATTTTATGTTGTGGACTTTTTGTATGTGTTTCTCCACTCTTTTGGAATCCTCTTAACTGAGTTCTTAGCATGGTTGGCTCCTGTTTTTATAAGTACTCCCAAACACAGGAACTAGCATTACCATTTTTTCAGTCCTGCAGTTCAGAAATCTGGGGCTTACGTTTGAAACCCTCTTCTCTTACATTTCCCAGAACAAATAAAGCACTGAATACTTTAGATTTTTGCATTCTATTTCTTCACTATATTATTTTCTCTTTCTACTTCTACTATCTAGTAACCCTTTTCTTCAATGACCAAAATCTATTTTACTTCCAGCAATATGGTGAAAAGACTATCGACTCTTAATTTAAAGCCAGACTTTATTGTTTATAACAAATGCATTGCAGAATGTAAACAGAGAATGTAATCACAAGCCAGGGGCTGGGAGCACTTCATATTAGTTTCTTAACATGTCAGAACCACATTCTTTCATTTTTATAAGAGAGTAACCAGAGAGCCACTTTAAGAATTTTTAGTGGTTAGCAGAGGAGTAGAGGAGAGTGCCCTTGATACACAGGTAGTGGTGAACATGTATCTTTACCCCCAGCAGGAGAGAAAAGATAAACATTAGAGACATAAGCTAGCAAGCTTCAAAAAGGATATTTGAAAGGGGTTTTGTAATGGGATATCAGTTTTTGTACAAGGGAATTTATTTGTACAAGAGGTTACGGAGCTTTTCTCGGAGAATAAAACAAGCCTGTCTATTACTTGAAATTTTAACTTTTAGAATAGCTTACGTGCACTTATGCTGATTATTGAGGGGTTGACTGCAGCATCAGCGTCCACTTCAGTCCTTTCTCCAACCATTCCATTATCTACCATGCGATCAGAGTGATCTTTTCAAATCAGATAACCACCACCACTTACCTTAGGATAAAAAGCCAAAATTCTTATCAGGGCTTGTAACCCTGTGCTTGAAGTCTTACCTCACTCAATTCTCCTCTTTAATTTCTGATCTCTAACCATGCTAATCTTTTAGTTACTGCAACTCAACAAGATCTTTTTAGTTCTTTAATTTCAATTCAAGAGACATTCTGCTCTTTCTGCTTGGAATGCTCTTTTCTTACCTCTTCTCCTAATTAACTCCTGTTCATCATTCAAATCTTAATTCAAATGCTGATCCTGCATGAATATTTATTCAGTATTAGGTCAAGTCCCCTGATGACTGTTAGCAATCTCTGTACTTCTTATCACTCAGCATAGTACTGTGGGAAATATCTGCATTGTTCTTTATTGAATCCTTAGTCTCAGGACATTATCCAGAATGTCTTACGAAGAGATCAATAATTATTTGTAAAATGAATTGAGATAATAATAAAAGAGAAAAATAAGAGAAAAAATGTATCTATTTTTGAGAAGGAGAACATTTTTAATGAAGATGTGGCCCTGGAATACAGATGTTTCTCTCATTTTTTTCCTATTTCTTCCCAAATTTAATTAATTTCTGGTTAACCCTGATTTCTCAGATCATAAAAATCATGGGGAAATCAACTACTTTGGCAATAACCCATCATGTTTTCAGGATTTGTAAGCCATAACAACAGTAAATTCTTTGGTGAGCTATACTCTCAGTAAGTAAATGAAGAATAATTCAAATATTATTGGGAAAATGATGCCACATTCATCTGAATATAATAAATGTGAAATTCATTTTACTATGTTCTTAGAACTTTGTAATACTAATTTATAATAGCAGTTTCATCCTTTAGATATTTCATTTTATCTACGGATCTAATTCTTCCTGTGAAATTACTGAGCTATTTCTCTATTCTTAGAAGAGAAAATAACTCTTTGTGATAAAAATCATTACTATGTATAATTAGACTTCCGTTTACAAGTCAAACTGAACCAACGAACTTACAATCATAGAATGTGACTAGTCACAGGGAATGGTTGGGGCATTAGCTCAGTACCTGTCCAAAGTGAGCTCATTATTATGATTATTAGTATCACCATTATCAATCAGCTTCCACATAAAGTGTACCTAAATGCTAGATCTATATGATAGCTTCCAAAATGACACTGATTTTTAATAATCCAAATCTTTAAAGAGATCACTTTCCATTTTAGAAAAATGAGATTTTTTTTTTTTTGGAAAAGATAGAAAAACCTCTAAGCATTTTAACCAAGGGTTTTAGAACACTTTATTTTTATGAATATATCAAAGCAAATTCCTTCTTTATTTTGAAAGTGACTGGAAACAATTTCACGGTCTTACTAAGGGCTAGTTTAAGTGAGTCTCAATTTTTCTTCTGTTTTGTTTGCTCTTACAACTTTCCTCACACACACACACACACAAAGGGAGATATAAAAAAATCTAGATATAACAGATGCAACTTACAATTTTTTGGTAAGAAATCATAAAGTTTTAGAAAAAATCATTTAGGAGTGTCAATAAAAACGATATTTAAGAAAACAGTAGGAAAAGTGATATATTAAAAGACTTTTAAACACCTTTCACAAGAAATTGAACAGATGTGCAAATACACATTATACGTTATCTATTTGCTCATTTTATCCTGTCCTTAAACATAAACTTTGAAGATAAAAGAAAGAAGTGTGGCTCAGGGTCACTCATGTAATCTGTTTTTAGGCAGAAACAGGTGTGTTGAAAGGTTTTTAGGTAAAACAACCACCACTTAGACTTCAATAAAGTAGTATTTATTATTTTCCTATAATTGCAAATTTACCAAATGTAACTCACTATTTTTTCTTTAATATTTTCAAAGATATTTTTGAGTAATTATTATATTTTCACAATCAATTCAGTAGACATTTTTGAAAAACTTATCTGAACCTAGTTTTCTCATCTGTGAAATGGAAACAATATATACTCTCTCAGTTTGTTGTGTCAAATGAGAAACCATATATGATATACTAACCACTGGTTCTGGCTAAATGCATACCTCCTCATCTTTTCAGTAAAGACATGACTGTTGGCCAGGCACGGTGGCTCACGCCTGTCATACCAGCATTTTGGGAGGCTGAGGCGGGCGAATCACTTGATGTCAGGAGTTCAAGACCAGCCGGACCAACATGGCAATACCCCATCTCTGCTAAAAATACTAAAATTAGCCGGGAGTGGTGGTGCATGCTGGTAGTCCCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAATGGCGCTGGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGCAACAGAGTAAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAAGTAACTGTTATTCTCAGTACTTTGGGCCAGCACAGTACTGATACTCTCCTAAAATCTAACTCAAAGAGAAAAATCACAAAGCATTGGAATTGGAGCAGAAAGTAATGTATTCTTGTTTGACATCTTTCCACATTCAGTCTGTGTACTGTTAGCTGAAAGCTAGTTGACACAAAATGCTGTCTTAACTTTAGTGTTGTTTCTAATTTAGTTCTAGGTCATAAAATTTGTAGGAAAGTCTAATTCCAAAACTTTATCAACAGCTTTGTTACGCTCAGGTATTATGATCAGATATCTTATGTGTGCTCTATGACCTCAAGCAAAGATTAAATAAATCTGTACATTACAGTGAAGACCCACATCAACCAATGCAACATACATTTATTTTTCGCAGCACTCTTTTAGGTGCTTTGAAACATGTAACCCATGTTTAAGTGCAGAGGATAGCTGGCAAGGCAAAATATAACTATATGATGTGTTAATAAGAATACAGAGGAATAGTTAAAGTGATGCATAATAAAGTACGGAAATATGTTGTTTGATTTCAAAGGAAGGGGATAGTACATATGCTGAAATGGCCTGGGAAAGCTTAATGATAAGGAAGGTCTTGAGATGGGTAAGAGAGATTTGTAAGGAAGAGAAAGGAGGGAAATTTATTCCAAAAGAAGAAAAAGTATGACAAAAGCACAAAGGAATAAATGAGATGAATGGCAGAAAATAGATCAGTTAATCAGTGAGGCTAGAGAAGCACGTTTATGGAACACTAGTGAAAAATATGATGAAAAGGTAGAATGTGACCAATAACAGAAGGATCCATTTTCTATCAAGACTTTCTTATTAGATTTGATATGTTCATACCAGCAATGTCATCTCTGAATATAAAAGATATCTGTACTTACGCAACATAATTATATGTTATCACTGGGAAATTCTAGGAAGTAATTATCAGTCCCTTTATTAATATTACTATAGAATTAACTTATTCAGTTATAGGGTACACTACGTTTATAGTTTACTTCCTTCCTCCCCCAGCCTCCAGCTTTGTAATTTAAATGAAACTAAATTCCATCATAATTCACTCACTAACACATAGGACTGCCAACCTCTGAATGGCTTTAGATTTGCGTGAACCTGTATTTGTCAATGCTTGCTCCAGGATTCTATTGGCATATGTCGAAATAATTGATTTTTATGACAACCTGCTTCCTGCTTACTGTTTTTTACCATAGGGAGGGAAAAAATAGAATTATCCCTTGATTTAGCTGTCAGTCAAATGACAACTCAAGCATGCTATAAAATTAAAGAAAGCCCCACATTCTACCAGGAACTGATGATTTTAGTGATACTGCTCTCTTTGTAGAAGAAATAAAGTATTTTCATATCTTATGATGAATATCACTATAATACATTAAAATATAGAATTGCATCCAGCAAAATATCCTGAAGTGGACAAAATATGCCCCTCCAAAATATGCCATTTTTGCACAATAATTTTTTTGAGCAGAAAGCAATTAGCTCACTGACTTTCACCTTTCTAAAAGCAAGACATAAATTTCAATTTGTAAAGACGTCTCCCTTTAGTGTACTTGTAAGAAAACTACTCCATAGACAACTCTTAATAGCTGATGACTTATCTGCATAAGAAACTTTATTAAACAATCCTGATTTAGAATACATTTCTTCCCCCACTTTCCCGTAACTTACCTCCTGCACCGAGCAGCCCTAAACTTCTTTTCTTTGGCTAGTCTAAGATATACACCCCAAATCCTAATTGCCTCTTTGCATCACATTTCTTTGTGAATTTCCATGTGTATGTACATAATTAATTGTTATTTTTCTTGTTAACTTGTCTGTGATCAGTTTAATTTGTAGGGTCCCAGACACTGAACCTAGGATGGAAGAGAAAAAGTGTTTCTGCTTTCCTATGGCTTAGGCAACCATGAATGGACAGGCAGGGCATCCCACTTGCTCCAGAGGCTGCAGCTCAATTGAGATCTGACAAAGCTGATGTGAAAACTTTACTGAACCAGATCCTGGAATTTTGCCTACAAAAATACAAATACAGAACTCTGTTTTTTCTTTTCCAAATTCAGATTTGCACGAGAATAAAATTATAAGAATTAGTTCTTTGGAATGTGATTCTGGTGAATTTTCTCCTGAGTATCATTGGTTATTGACCCTTTCACTCCCAGGGAGAGCCATTGCTTTCCTGTGTGTCTCATTTTGTGTCTTGAGCGCTTGGATTCACTTTCTTCCTGGTGGCAGGGTCCACATTGTTGGGCTTGCTGTACAGGCAGTCAGTCATCAGATTGTATGCCCTGAGAATTTGTAGATGGTCAGATAGAGATGCAGGTTGCACTGTCTTGCTACTGATGTTCTACCAACCCTCTCAGAGGGTTTGTCTAAATTTTTATTTCTTTTGGCTATTGCTGGGAGGAACTCCATATCATAAGGACTTCATTTTTGCACTCTCTTTGTGGATACCTCTTACGTTCTTGGCTATCTACATTATTAAATATGTTTTTTCCCTCTCTTATTAATCTTTTATTTATTTAAAAGTGGTGGGTTCCCATGGCCTTGGGCATCTCTGCCTCTGTGGCTTCACAGGGTATAGCCTCATCCTAGCTGCTTTCCCCGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCAGGGACAAGCTGTCGGGGAATCTACCATTCTGGGATCTGGAGGAAGGTGGCCCTCTTCTCACAGCTCCACTAGGTGGTGCCCCAGCAGGGATCCTGTGTGTGTGCTCTGACCCCATATTTCCCTTCTTTACTGACCTATGAGAGTTTCTCCATGAAGGCCCCGCCACTGCAGCAAACTTCTGCCTGGACATCTGGGTGTTTCCATATGTCCTGTGAAATCTAGGGGGAGGTTCCCAAACCTCAATTCTTGACTTTTGTGCACCTCCAGCTCAATAATACATGGAAAATGCCAAGGACTGGGGCTACCACCCTCTGAGGCAATAGCCTGAGCTGTTCCATGGCCCCTTTTAGCCATGGCTGAAGGGGCTGGGATGAGGAGCACCAAGTTACTAGGCTGCACACAGCTCAGGGGTCCTATGCCCAGCCGAAGAAATCACTTTTTCCTCCCAGGCCTCTGGGCCTGTGATAGGAGAGTCGGCTGTGAAGACCCCTGACATGCCCTGGAGACATTTTCCCCATTGCCTTTGAGTTTAACATTTGGCTCCTCGTTACTTATTCAGAGTTCTGCAGCTGGCTTGAATTTCTTCTCAGAAAAAGAGATTTGCCTTTTCAATCATATCAGGCTGCACATTTTCCAAACTCTTATGCTCTGTTTCCCATTTTAAAACTGAATGCTTTAACAATATTCAAGTTACCTCTTGAATGCTTTGCTGCTTAGAAACTTCTTCTGCCAGATACACTAAATCATCTCCCTCAAGTTCAACAGTTCACAAATCTCTAGGGTAGGGGCAAAATGCCACTAGTCTCTTTGCTAAAACATAAGAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTTTATCTGAGACCACCTCAGCCTGGATTTTATATCATTATTGACATTTTACTCAAAGCCATTAACAAGTCTCTAGGGAGTTCCAAACCTTCCCACACTTTCCTGTATTCTTCTGAGACCTCCAAACTGTTCCAGTCTCTGTCTGTTACAGAGTCCCAAAGTCACTTACACATTTTTGTGTATCGTTTTAGCAGCACTTCACTCCTGGTACCAATTTACCGTATTAGTCCATTTTCTTGCCGCTGATAAAGACATACCCAAGACTGGGAAATTTAGAAGAGAAAGAGATTTATTGGATTTACAGTTCCACGTGCCTGGGGAGGCCTCACAATTATGGCAGAAGGTAAAAGGCATGTCTCACAGGGCAGTAGACAGGAGAACAGAGCTTGTGCAGAGAACATCCCCTTTTTTAAACCATCAGATCTTGTGAGATTATTAACTACCCCGAGAACAGAACAGCATGGGAAAACCTGCCACCATGGTTCAATTATCTCCCATTGGGTCCCTCCCACAACATGTTGAAATTAAAATTGGGATTTGGGTGGGGACACAGCCAAACCACATCATTGGGGATGGAACTTTTTATTGTGAGTATGTCTGCACAAGTTACCTGTGTAGATTTTCTTGTCTGTGTGGCTGTGGGAATGTCTTAGTCAAACACCCCTATGCAAGTTTACTTATCTATGACTATAGTTTGATTTTTTAGGCTGTTCTTTTGTTTGAATGAATTCAACTGAGTACCCACCCTAACTGCCTGCCTGACTGGTTTGTTTATTTCTCCTCTCTCATTTTTACCCACGGGAGTGGAGAGCCTAACTGCTGTTAGCGAGGTGGGGTGATGCTCGCTACTTCCTGCTGGAAAGGGGCATTGTATGGGGAACAGCAGCTAGGGTTCCTTCTGTGAGCTTTCTAAGGGTCCTTGGAAGAAATTTGTGTCCATGCATGGTTTCATTTGCATCAACATTTGTAGTTTGATAGACTTTAGGCAAGAAAAAAAAATGGATTATTAGAGGACATGTATAAAAATGAAACAAGGGGATAGGTAATGAAAGCTCAAAAATCTCAAGGCTTCAGCCATGCCCAGATAAATAGTGGCTATAGTTATGCCTACTAAGATTTGGGTGCATGGGGCTTTGCTTTGGTGAACTTCCTTGGTTTTATTTTCCCAAACAAAGAAACCTCTGGGTTATGGGTACCCTGTATACTCCCATAACCTGGTAGGATTTGCAGGATAATAGCCCAAAACTAGAATATTGATTCAGATTTTTACACTACTTATTCCTTTTTTATTTTGAGTTGCAGCCAGAGATTGCTGGTTTGTTTACAGGAATAAGCAGAGTTATTCTAAAATGTACGTGATATGGTTTGGCTTTGTCCCCACCCAAGTCTCTTCTCGAATTGTAGCTCCCATAATTCCCATGTGTTGTGGGAGGGATCTGTGCGAGATAATTGAATCATGATGGGTGTTTTTCCCCATACTGTTCTCATGGTAGTGAATAAGTCTCAGGAGATCTGATGGTATTATAGGAGGAAATCCCTTTCATTTGGTTTTCATCCTCTTTCTTGTCTACTTCCAAGTTTTTGCCTTCCATCATGATTGTGAGGCCTCCCTAACCATGTGAAATTGTGAGTCCATTAAACATCCTTTTTAAAATAAATTACCCAGTGTCAGATGTGTCTTTGCTAGAAGCATGAGAACAGACTAATAGAGTAGGCAAAACTTAAAAACAACTAATGAGATTAGAATTTAATGACAAGTGTATGATAAGTTTTGAATCAAATTTTGCTCTCTCCAGTCCTCATTTTTGTTCAAAACAAATCATGATAGTCATTTTGTTAAAAACAAATTACGACTGAGTTGTTTGCAATGTAAACTTAGGCTCATACTTGGCTTGATTATTTGCATAATGTGCAGCAAAAATAATTATTTTTGCAGTCTTTTAAAATAAGCTTTGATGGAACTCTGTTCCACAAGAGATCTCAGATAGGACTTTTTTAAAGCCAAGCCCGGCCATGAGTTTGTACCCTCAAATACCTATGAGTTGAGTGAATTCCTCTCTTCTTAATGTCACAAGAATATGTGGTTCCTGGGACTGTTATATAGTGACATTCTTTACTCATCACAGATTAGAAACCCCGTACACAGATTATGTAGACAAGGTAGGAGGCCACATTTCCCAATGGGCTTTTATTGGCTCTGTAAGTGAAGCTTGATTCCTCAAAGAGAAGCATATCCATCCAATCAAAGCCTTGGTAAAACAACCAGTTTCTCCAATTGTGTCATGTTGCAAAAGAAAATGAATTCTTACTGCACTGGTGCAAACAACGATATTGCCATAAGTTTAGAATATTCCCAAATAGTTTCCAAATTCTGGAGTAACTTGGCAGAGAGAAACAAATACGCTCCAAATTTTGTTCACTGGTGTATACCTTACTTAATTCTTAAAAGCTGTAGATAGCTTAAAAGAAAGGTTTCCTTAACTCTGAAGAACAAAACAAAGAACAGCAATGTTTTAAGCAAAAAGTAAAAAAAGATTATTTCAGACTTCTATTAGTTTAGTTCATGCAGTTAACTCCTGTCTGATATTCATAAACAGTTAAGATCTTCATGACTCTTGTATGATTTCTTTTATTCTCATGTCATGATTTCCAAAGTTATCAGAAACCTGCATTTGAGAGCACATTGTAAAGTCCTACAGCTGATTGTAAAACATCTTTTGAAGAGGATTAAAACAAGACAACATTTATCTGTAGATGACATAGTGTTCAGGTTAGTTACAGTGAAAAACATGACTGGCAAAGATATTTGGTTATTTCTGTGGTTTGCAATAACTTAATACAATAATCCTAATTATGATCCATAGCATATTCTCAAGCATTAGAATTTTTAAAATCCCATACAATTTTGGAACATATATTAATATTATCACTAAAATATAACCTGAATAAGGTTAAACATAATTTTGTCAATCCCACTTACATGAACCTGTCAAAAAATTCTGTTTACTTCTCTTCTGGATGCTTCAGGGCCCTCTGTAGCATACAAAAGGTAGGGTTCAGGAGAGACAATTTTGAATGTGAAGTTTGATTTTGGGAAGCCTGTCAAATGTTACAGGTTTAAAACACTTGATAGTGTGAAATACAATTCCAGGTAACACATAAGTTATTTATTTTGGCAAAAGGATGACTCAGAAATTTTAAAACTAGGCAACATCCTTTACTCCTTAAGAGGGAGGACTTCGCTTTCCAAACAGTTTGTCTCCTGTCTACTCTTTTCTCTCTTTGGCAGTCTCCCAACAAGGCAAACAAAATATTTCATTATTCTTCTCTATTACATGAAAAATCTGTACAAGGGAAAGAAAGCCAAATTTTACCCTTACATTGGTTTCAAAATAATCCTTTTTCATTGGCAAGGTTTATATTTTATGCCTTTTTATAATCTTTTATGACAAACACATTTTACTGTTCTTACACACCTTGCAGGTAAATTTATTTTTAGTTGTCTTATTTACATGTTTTAATGGTAAATCTTACCAATTTTAACGTTAATATAAAACCTGGTAAGTTGTTTTAATTATGTACTAGATGCAGATAAAGTCTGATTTTTCCATCATATTTAGGGGCATGGTTAATTTCATATGTCCCCAGGCCTTACCAAGTTGTAAGGTAGGTAGCATACAACCTTGAAACATTTAGCAAACCTGGTATCTAACTTACATGATTTAAACTTTCTATTTACATTTTGATGACATTTGCATTGTACCAATTTCATCTTTAAAACAATTACTATTTCTTAGAGGTTAAAGTCCCATAAACTAAAAGGCATTAGAGTTTTAACTTTCCTCTAAAATATTTGATTTAAGTGCTTATTTTTATTTAAGGCAATCAATTAGAGCTCATTAGAGACATCACACACAACACATATATCACTACACAGGCAAACAGAAGAAGATCCAGTAGTTCTAAGATTTTTTTCTTGTCCCATTTCCTAATTGAATTATTAGCTTTCCAGTGGAGCCCTTTAAGAGCAAGGATAGAAAACCATGAAGTTTCTAGGGCCTAATCAACTTGTATAGCTGTAAGACAAAAGCAGATTTTGAGTGGAATCTATCTATGAGCCTCTAAATTCTGGTATTCCATGAGGAAAACAGAGGTTTCTCCCAAAATGGAACCCATCATGCCTTTTCTGTTTTTCCCAAGAAGTATCAGGCCAGCAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAAAACAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAACACAAAAGTTCTTTTCAAGAAAAACACAATCCAAGAAGAGAAAAACATAAAGGCCTTTTAAATATACCTATAACATGAATATCCACTTTTAATCAAGCTGAGCATTCTTTAAGAAAATCATTTGAAATATGCTGTTACCTGACTTTAGCTAAATCAAGCAGGTAATATTTCTGGCTTTTGACTTTACCAAAAGTAATATCAAAGGTGAAACAACAACTCTCAATTAGGTTATAAGTTAACCACGAGTATACAAGATATCTTATAAGTGGTGGTAAGCAGCTTTTACCAGATCTAGAACCTTTAAAGTCAATTCAGAGAAAAGAAGATTTCAGAAAGGAAGTTAGAGTTGTTCATGGAGGAGGAAGAGAAGATTAAAAGTCACACAGCTATTAACTTGTAAGTATTCATTACCCAAACCAGGAGCGAACCCGGGCCACCATTATAAAAAGGCAATGGCTAAAAAGAAGTACTGCCACATTGTTACAGGTTATGGTCAAGGACATAAAACAAGATGGAGACTTGCAGCAAAGTTTGTTACTAACCAGTTTACAGGGGTGACTTGAACAGTGAGCTTACGGAGTCCCAGGCCTGGATTCCGTTCCAAGGTACCCTCTCTCTGATTGTTTCTTGTATTTTCTCTCCTTTTTCTGAGACTCCTCCTAGTACCTGTTATGAAAGACTGGGGTGGCTACTCTTAGAAGGTTTTTTAAGGTGCCATCTGGTTCTATAGCCTGTTTCTGTAGCTTCCTTCAAATATCAGGAGCTGCTTGAGTAAACCTGTCTTTCAAGATGAGCTGTCCCTCAATTGAATTACGAGATAGGGAAGCATGTTTTGCCAAAGTCTCTCTCAGCCTTTATAAAAAGGCTGAGGGATTTTCATCTGGGTTTTGATCTATCATGGATAGCTTAGAGTAGTTAACAGGTTTGGCTCTGGTCCCCTGTAAGACTTCTACCGTATACATCTGAAAGTGTTTCTATTTTTCAATCATCTATGGGCTTAGTAGGGTTCCAATTAGAGTTTTCAAGGGATACTGCCTCTTTTCCTACTGGGAATGGGGATTCTGCCTGTTTCTCACCCTCTTTCCCTTTTTGACTGGCTATAGGAAACATGCTGCTCATCTCTGATTTTTTCTGCTACCTGTAGGGCTGCCTGTCTCTCAACAGCAGTTAGGGTTTCAGAGTAACATAACATCCTTCTAGGAGAGTTTAAATACTTGGGTTATATCCTGGAAGGCCTCTATACATGAGAGAAGTTGGCACTTGCCCAGAGCGAACTTCAGGCTCTGAAGTCTAAAGAATAACTCAAGGGGAATGCAGGCTTGAAGATGGGGTGTTACCCATGCATAAAAAGAGGGGAGTAGAAGGTGTCCCTTAGTCTCCTTTCAACTTTTGAAGTGACCCAGGTTGAAGAGAAAGATTACAGGGGTGTCCCTCTTCTCTTTCCTCCCATCTCCTTTGGGTCCTGGCAACCATCATAGGTGCAGCCCATGGATGCAAGCATGAATTGCACCCATGTATCTGGAGGTGCTAGTTGGCAGGGGTAGTCATGCTTACCAGCACAATGCCTCATCTCACTGCCCTTCTGGGTTCCTAGGCCTCCCAGGAGATTGTACAGTAGATAAAGTTGGGTGAGACACTTTAACAGAGGGAGTGTTTTAACCCTATTCCTGCTTCCTCTAGCTATGGCCCTGGAAAAGCAGTGCATTCCCAGAAAATTTTACCCATTGCCTTTTAAACACAAAATCCCCTTTCTGATTAAATGCCAATGTTGTTGGAAGCAGAACAGGTGCCTCAAAAGAACATATGGATTTAATGGCTGTCCTCCTTCTGATGGGAACAGCACTGAGGCTAGAATTTGTCTCTCAAGGGTGGCTTCCTCCCAACTGTTGAATGCGGAGTTTTTTTCCCTACAAATGGGGCATAGAGTCTGCTTGCTGACAGAGGAACACAAAAGTGGAAGAAATCTGGGTATTAGAGGTTTTTGGCAAAGGGCCAACAAGACTCTATGCAGAAAAAAATCCTATCTCATGAGGTGGTGCTGTAGGTTTTGAAAATTTAGGTAAAATCTGTGACTCTAAATTTCTTCCAGGCAGAAGCTAGAAAGAGAGGTTTGAGGTTTAACAGACTGTCACTATATATGCCTCCCAGCTGTAGAAAATTAACTTGTCTCATTAATAAACTGTTCAAATTCATTTAGCAGTGGTGAGCTTTTACATGAAGGAAAAGCAACTAAAATGGAGAGGGATGAGGGTATTCACTCGGGATGAAATATCTTTTCATAGAGTACCATGAATGACTGTTATTGTGGGACAAAAAGCACTTACTGGGTGAAGGTTTAGACTGAAATCTTGAAATCCCCTGGTATTTTGAGTTTCTGCTTAGCCTTTCCAAAGGAATAAAATCAGATATGTATCTATCTCAGTGAGCAGAGGAGTGACTTTGAGTAGAATGGGAGGAAGGTTTGTCCTAGGCAGTTTCCCGCTTGAATTTTCCCTAGTGATTTCAGGGGCCCAGTATATTGTCCTTTCACACATCTGACAAGTAATTGATAACCAGAATATCTAAGCAGCTCAAACAATTCTAGAGGAAACATATCTAATAGTTGGATCAAAAAGTGGGCAAAAGATTTAAATAGACATTTCTCAAAAGCAGACAGACATATGGCAAACAAGCAAATGAAAATGTGCTCAACATCATCGATCAGAGAAATACAAATAATAACTACAATGAGATATTATCTCACCCCAGTTAAAATGGCTTTTATATAAAGACAGGCAATAAGGATTGCTGGTGAGGATGTGGAGTAAAGTGAACCATCATACACTTTTTATGGTTATGTAAATTAGTACAGCTGCTATGGAAAACAGTTTGGAGGTTCATCAAAAAACTAAAAATAGAGCTATGATGTGATCCAGCAATCTCACAGCTAGGTATATACCCAAAAGTAAGAAAATCAGTATATTGAAATGATATCTGCACTCCCATGTTTATTCCAGCCCTGTTCACAATAGCTAAGACTTGGAAACAACCTAAATATCCATCAACAGATGAATGGATAAAGAAAATGTGGTACATACATACAATGGAGTACTATTCAGCTATAAAAAAAAATGAGATCCTGTCATTTGCAACAACATAGATGGAACTGTACATTATTATGTGAAGTAAAATAAGCCAGGCCCAGAAAGACAAACATCACATGTTCTCATTTATTTGTGGGAGCTAGAAATACAAACAGTGGAACTCATGGTCATAAAGAGTAGAAAGATGGTTACTAGAGGCTGAGAAGGGTGGATGGGAAGCAAGTGGGAATGTTCAATGGGTATAGAAAACAGAAGAATGAAAAAGACCTAGTATTTGACAGCACAACAGGGTGACTATAGTCAATAACAACTTAATTGTGCATTTTAAAATAAATAAAAGAATATAATTGGATTGTAACATAAAGGATAAATGCTTGTGGTGATGGATAACCCATTTACCCTAATGTTATTATTACACATTGTCTGCCTGTATCAAAATATGACACATGCCCTGTAAGTTTATACACCTGCAATGTACCAACAACAATTAAAAATTTAAAAAGGTGTATCCTTCCCAGTGAACCAAAATATTTTACATTGATAACTTTTAAGTTATCATAGTGTGTTGGAATAATCACAGCTTTGGAAAGAAAAAAATTATAGATATAAACTTTCAAAGATGGCAGGAGATATAGATCTCTCTTTAGTGGATTAAAATATGCCATTTGTTATTAACATCACACTGAGATTTTTTAACACAGGACATCTTCTGGAAATGATATGATTATAGGAGTTATAGGAAAAAGCGTTTTTTCATACTGTGATTACCTATGCTATGAAGAAAGGAGATATTTCCTCTATGATGTCTAATTTAGCATAATTATTGTTTTTAAACTATATTTAGATTTAATTAAGAGATACACAAACAAATTACTTTTAGTAGTAAGAAGATTTTTAAAAATTTTTTGTGTAAGATGACTATGTAGTAAAGAAGGTTACAAACTTACTTTTTAACGTAGAAAAATAATCTCACCTTCTTGCCCCATGGAAAATTGAAATGTTATGTGGAACCCAGTGTAGAAAAACTCTCAGTGAGGTTTTCTGTCTTAAGTTTCAGTGGATTGAGGTGAGATCAACGCCTGTTCCACCTTTTTCCTCCCTGTCCTAGCAGGCTTGAAAACATTTATACAGCCATAAAATGTTGCCTTTAAATTCAAGTATAGAAAATAAAATTTAAAATGTGATATTTTTATATATTTTATTTTAATATCTTACATGGGAAATGTTTTTGAAATGTTAAAAAATTAAAATTTTTAAAAGAGTACTGTGAAATAATCTAATCACATGTGGAAATTTTGTTACTATTTCCCCAAGCATTTTTGGTACATTTAATGAGTTGAATGTAACTCATAAGTAGATAAAAATGTTTAATATTTAATTTTCTGCTGCAATAATGTTACAAAACAACCTTAAATTCTCAGTAACGTTAAACAACATATTTTTTTCTCCCAAATTTCCAGGTTATTTAAGGGCAGTTCTGCTTCATATTGCAGTTTGCCTGGGCTTTACTCCAGGCTGTGTGTTGGAGTTAGGTCTAATATATTGTATCCCTACGTATCCCAGTTAGAAAGCCTAACAGATTTCTTTGTACTTCAGTCAGCTCGATTGTATTTGTCATTCAAAAGCCAAAGCATTTATCCTAACACCAATTGCTTCTTTTTTTTTTTTAGATGGAGTTTCACTCTTGTTGCCCAGGCTGTGGTGCAATGGCACGATCCTGGCTCACTGCAATTTCCGCTTCCCGGGTTCAAGGGATCCTGAGATGGGGTTTCTTCGTGTTAATCAGGCTGGTCTCAAACTCTCGACCTCAGTTGATACGTCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCCAGCCTAACTGACTGCTTCTTTTGTTCTGTAGTCTTTCTCCAAAACTGTTTTTCTCTGTACTCACTTTCACCTTCTCTCACACATATATGTCCCTCATGTCCCTTTATGTCTCCAGGGTCTTCTATTTCCACGTAATCTTAATTGTTCATCATATCCTGGACTCATGAGTAATTAATCTGTTATTCTCCCTGAAAGTGCAGCCTTGTTGAATAGAATGTGTTCTTTAAAGAGCAGCTTTGTTTCTCGAGTGAGGTATTAACTTCCAGATTTAAGTGAAAATGAGTTCCAAGTTTTATGTTTCATTGTGTGTCTAAGACTGACACCGTTTATTACTGTGGCACTTACAGCTTGCTTTCAATGCCTCCAAATTCTCTATCTGAAGGGCTGGGTACCATATCTCATGTCTGAACATATTCCTCAGAATCATGCAGTACCAGCTATGTTCCTTCTTTATATTATGGCTCCTGAGGTGCCTGTTAAGCAGCCAGGTGAAATTGCCTTTTAATCAGTATAGGAACAGTCTCTTTCCTGCTGATGCTAATGCTTTTTGTAAAAAGGTCATGCTGTATTGAAGTTCTTCTTTCACGGCAAAACCACTAATGGAACTCATCTACTTACTGATGGGTGGAAGCTCTTTGTATGCCAAAGTCTTGTTTTGTTTGTGAAGAATCTCTTTCCCTCAACAGTGATGTGCTACGTTAGGTCTCAAATCATTGTTGCTTTTTAATCCAAATTTATGACAAAGATTTTCAGTTTGTATGCATAATTTCCTTCTCTGGCCTTAACCATCAGTCTGTGGACTTGCCAAGCAACAACCACAAGAACAACAAGTCTGAGGTCAAGAGACACTATTTAGATCTCAGAATCATTTGTTGTCCTTTATCCTTTGACAAAGTTTTGCCTTTCTTTCTTTATGAGATTTTTTCCCTAATGGTTTCTCAATCTCTTGAGAAGAAGAAAGTTCTTGACTCTTGCAGTCTTTCTCATTAGTTGAATTATACCATCAGTACAGCTTCTGATCATGTCGAGAAATCCACCATGAAGAAATAAAACATTTCCGATTACATGGATTACGTTTCTTGGATTCTTATAGGCATTAAACTTCATTCTAGGATACAACCTCATGATCTTGTCTTATTCTCAGAACAAGAAATATATTACTATATACATTACAATATATATATATTGCAGTTTCCTTGCTATATATATATATATATGTATGTATTATAGTAAACCCTGTAGGCAAGCAGGAACACTTCAGAAGTCTCAATGAATCCATCATTAGCTGTTAGTAATGACAACACTGTTAGAATTATTTCAATAATCACACATTGTTATGGTCTGAATGTGCACCCCCAAATGTAATATGTTGAAATTTTAACACCTGAGGGCATAGTATTAGGAACTTGGGAGTGGAACTCTTTTTAGTGCTATTATGAATAAGATGCTTGCCTTTTCCAGCAAATGAGGACACAGCCACAAGCTGCCCTCTAGGAACTATGAAGTTAGTCTTCACCAGACACAAAATCTGCTTGATTTTGAATTTAGCCTCCCGAACTGTGGAAAATAAATTTCTGCTTTTATAAGCCACTCAATTTATGGTATTTGGTTATTGTATCCCAAACAGACTAAAACACACATTATTTACCTCCTTTTTGGACTGTCTGGGGTTGTTGCTTTAAACTTGCTTCAGTGCCTAGAACTGCTCCAAGCTCCCTGTCCTCTGGCACACACGTATAAATAATTCTGCTGGAAACCGACATGTTTCACTCAGTCATCCAAATGTATTTATAATGTTGTCCAAATATATAGCACTTGTTACAATGTTTACATTTTAGACATATTTTGAGATATGTGCCTTAACAGAGTGCTGTGATTATTATTAATATTTAGTAACTTATCTTACCAGACCTAAACTCAAAGTTTTTCACAATGGCAATGCCTTATTTGGGACTTATTTGGGACTGAATGTATGAAGATCTTACATTGAGTCCAAATTGATTTCTCTGTTAGTCTCGCAATAACATTAAAGCCACAGAATTATCTGCTGTATATTTCTTGTCTTGTTGTAGCTGATATTCTACATATTAGGACAATTAGGACATTAGTAATATCTATTAACCTTAGAATAAAATGTCATATTGAAATTGAAGAGGAATATTGGAACTTTGCTAAGAAAGAATGCTTTTCACACACAATGATATCTAAAATGGAGCCTCTGTTCCTGGAGGTATATTTTACAAAAATTCAGTGTTACTATAGGAATTCTGTACACTTCTTTCTTAGACATTTGTATTCCATCAGTGTCAGTCCTCTCTGTATTTTAAACTAAATAGGATTTCTTTTTCCATCTTTCTGTTTGACAAGTATTGTTTTGCTGAAAATTTGCTATTCATGTTCTTTTAACTCATTAGAAAGAATATTTAGGGTCTTTAGTGACAAATGACATGGTATAAATGAAAAGAAAACACTGACATTGTAATTGAGAAATACTAATTAATTAGGAGAATATTATTTAAAAACATTGTTTAAATATTTCTTTGTTTTATTATTATTATACTTTAAGTTTTAGGTTACATGTGCACAATGTGCAGGTTAGTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATCTCCTAATGCTAAACCCTCCCCCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAATATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTACTGAGAATGATGATTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTATATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTACCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGAGTACATAGCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGATGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCCTACAATGAACTCAAACAAATTTACAAGAAATAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAAACATTGTTTAAATATTTCTATCACAAATTGACAGCAGTACAATGCACACCACCAGCAATGTATAATTCTAGATATGAGAGGTAAAAAGATAAAACAGGTATTGCATTTTCTCCAGAAAACTTATCATTTAGTGGAAACTGGCCAATAATTTCTTAGGCCTTAGGATAATTTTACCTTTGATTCTCTAGTTAATCCAAAATATATAAAAATATTAACCAAAAGTATATATTTTTAAAATGCCTACATAATCTAATGCAGTATTTTTTGCTCTCTTCTTGAAGTGAATTAAATTCCTTATCACTGACCATAAAATTGAACTCCATTGATGATTCTTATTTAAAATAGTTAAAAGTGAATGTAAAGATCAGTTGTGGTTTTCCTTTTCTTACCCTTGTTTTTACACTTATATTTGCCTGTGTCATTCACACACTTTTAGAATTCAAAACAATAACTAGAAATGTAATCATTTGCTTTTCAAAAGCTTTTCGCATCTTTCCAAAGTTAATATAAAGTCTTACAAAACTTTTAGCTAATTCACAAAAAAATCAAACATATATAGTTGAAGCAATTTTTTTTTTTTGGTAGATTTCTTCAAACCACAGAAATTTCAGTTATGGCATGGTAGGTCTTTTGAAATGTTTCATTTTTTGTATTTGAAGATGCAGAGCAAAAGTATTTCCACTCCAACTCCCCTTTAATAAAAATTGAATGTAACAAAAAAATCAAAATCTATAGGAAAATAACCCCTTCATCTATGTTAAAACTATGAGATTTCCAGCCCAAATAAGTTATAAGAACCAGTATAGAGTCCAGGCTCGGTGGCTCACGTCTGTAATCCCGGCACTTTCGGAGGCTGAGGCCGGAGGATCATGAGTTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCCCATACCTGGGAGGCGGAGTTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGAGATAGAGTGACACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACCAGTATAGAAATACTAATACAGTAAAAGGTGGACTTATATATAAAGAAAATAACCAACAGATTTTGTCTATGGCACAAACTTCTTAGAAATTTTGAGGTCTTTAGCCTTAAAGACCTAATCAAATATTTATTACTTTGAACAGTGAGCTACTGGGATATGCTGGGCTTTGAGCCTATGTACAAATCTAATTTTAGAAGTCAGGACGTGTTGTAAGCAATAGCAAAGAATATGCTAGATGATCAGCTTGGCAATTGTTGAACAAACTTCATTCAGCAGTGTGAGGACGTAATTAAAGCAGTTGACCTTCAATCTATTCACTCTCTTTATTGGCAAATGGCCGAGGAATAAGACTAGAAGGAAGATGAACTGGTTTAGTCTCTTTGTCAGCTGAACTTGTGGTGAAAGAGACTACTGATATTTTCTAGGATGAAGAGATCTTATCTCTGAAATACCCTTTGCAGGTTGCTCCTGACTGAAACAAATTCACAGATTCTTTCTTCTCGCTCAATTTTGCTGTTGATTCTTCATTTTACATTCTTTATTTCATTTATTTTATGCTTTAGCTCTAGAATTTTAGTTTGGGTTCTATTTTTTCAATCTGTCTGTGGAACTTCTCAATTGGTTTGTGTTTTGTTTTTTTTCAAGTTTTGGTTGAATTGCCTATTTATTCTCTTGTAACTAATTACTCTCCTTTAAAACAATTATTTGACATGAAAAACCTTGCAAAAATACAAAAATCTATAAACTTCTTGACAAAGAATTCAAAATAATTATTTTAAAGAATTTCTGAATTTGCAGCAAAAGTTTGCTATAGAGCAACATGAAAGCACAGAAAAGTATGAAACTCATTGATTAAGGTAAATATATAAAAAATACAGAACACTCTAATAGTGTAGTAGTGGTGTGTAAATCAGTTTTATTGCTAGTATGAAGCTTAAAATCCAAAATAATAATAATTATAGCTACAATAATTTGTTAATAGATATAGAATATTAAAAATATATAATGTGACACCAAATATATAAAATATAGTGGGCTGAGTAAAAGTATAGAGTTTTGAATATGATCAAACCTCAGTTTAAAATAGTTTGCTCCAACTACAAGATAGTATGTATAAGCTTCATGCTATTCGGAAAGCAAAAACCTATAGTAGATACCCAAAAGACAAAGAGAAATCAAAGCATGTCACTACAGAAAATCATAAAATCTCAAAGAACGACAGCAAGGGAGAAATAAAGGAACAAAAATATGTTAAAAGGCTGAAAAGCAATGAACAAAATGTCAATTGTATGTTCTTATCTATCAATAATTACCTTGAAGATAAATTCATTCTATTCTACATTCAAAAGCCAGAGTGGCTGAATGGATTACAAAAGGAGACCCAACAATATACTGCCTACAAGAGACTCACTTCAGCTTCAAGGACACATATGGTGTGAATTTAGGGGATGAGAAAATTTGATATTCCATGCAAATTAAAACAAAAAAACAACATGGATAACTATCCTTATATCAGGCAAAATATACCTTAAGATAAAACTCTAACAGGTGATAAAGATGGTCACTATATAATGATAAAGGGATGAGTTGATTAAAGGGATGAAACAATTATAAATAAATATGCACTTAACATTAGAGCACTTGAAAATGTAAAGCAAACATTAATATCTGGAGGGAGAGATACAGAGCAATCAATAATACTACAGATATAGGTAACCTTATTGACACTGTTGAAATTATCAATACTCCAATTACAACAATGGATAGATCATTTAGACAGACAATCTGTAAGGAAAAAAAAATTAGACTTGATCTGCACTTTAGACCAAACGGACCTAACAGATGTATGTTCACATTTCATCCACAGCCGGAGAACAGGTGTTCTTTTCAAGCTAACAAGAAACATCCTCTAAAATAGAGCATACTTGAAGTCACAAAATGTCTTAATACATTTAAGAAGATTGAAATTTTATCAAGTATCTCTTTTGACCACAATGGTATACAACTAGAAATCAATTAACAGGAGGAAAACTGGAAAATTCAAAAAGAAGTGAACATAACACAATTCTTAAAAACTGGTGGTTTAAAAAGGAAATAAAAAGGAAAATAAAGAAATCTTGATACAAAAATGAAAACACAATACACCAAAGCTTGTGGGATGCAGTAAGACAGTGCTAAGATGAAAATTTGAAATGACAAACACCTACATTAAAAAAAACACAAATATTTCAAATAAACAATCTATCATTAAACCTCAAGGAACTAGAAAAAAAGAAGAGCAAACTAAGCCCAAAGTTAATAGAAGAAAGAAAATAAGAAAGATCAAAGCAAAATAGAGAAATAGAGAGTAGAAAAGTAATAGAAATTGAAAGACATTCTGTGTTCATCAATGTGAGAAATTAATATTGTCAAAATGCTATTACACAAAGCAATCTACAGATTCAATGTAATCCCTATCAAAAGTCCAATGGCATTTTTCCAGAAACAGAAATAAATCCTAAAATTTGTATGAAATTACAAAAGACTATAATTACCCAAACTGATCTTGAGCAAGACGAACAAAGTAGGAGGTACCACACTTCTCACTTTCAAGTTATATTACTAAACTACAGTAATATATATATATATATATGATACTGGTATGAAAACAGTCACATAGAAGAATGGAGCAGAATAGAAAGCCTACACCAATATCGTCAAAGAATCTTCAATAACATGCCCAAAACACCTAATGGAGACAGGATAGTCTCTTCAATAAATAGCGTTGGAATTATTGGAGGCCCACATGCAAAAGAATGAAATTGGAGTGTTATGCTATGCACAGGAATAAATTGAAAATTGAAAAGGAATTTAAACATAACATCTGAAACCAAAGAATCCCTAGAAGAAAACAGGGGAAATCCTCCATAACATTGACCTTGGCATGATATTTTGGCTATGAATCCCAATGTATAGACAAGATAAACAAAAATAAACACATACAACTACATCAAACTAAAAGATTGTGGCACAGTAAATAAATAAATAAATAAATAAATAAATAAAAAGTCACCCATGGAATGGTAGAATGTACTTGAAAACAATATATCTGATAATGCATTAATATCTAAAACATATAAGAAACTCATAATCAGAAAAAAAGTAACCTGATTAAAACATGAGCAAGAGACCTGAATAGACATTTTTTCAAAGGAAGATTTACACACGGCCAACACATGAATGAAGAGGTGCACAAAATCACTAAACATGAGGGAAATATAAACTGGAATCAAAATGAGATGTCACATTACATCTTTCAAAATAGCTAATATCAAAAAGGCAAAAGATAAATAGTGTTGACAAGAATGTGTCGAAAAGAGAACCCTTATAGAGTTTTGGTGGGAATGTAAATTGGTACAACCATTATGGAATACAGCATGGACACTCCTCAAATAATTAAAGATGTACCGTATGTTACAGAAATTATACTTTTAGGCATAAAAGTATATACCTGTGGGTGTGTTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTGAGGGAGGCAGATTACCTGAGGTCAGGAGTTCACGACCAGAGTCGCCAACATGGCAAAACCGCATCTCTACTAAAAAACACAGAAATTAGCCCAGCGTGGTGGTTGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCAGGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGCCATGAGTCAAGATTGCATCACTGCACTCCAGCATGGGCATCAGAGTGAGACTCCATCTCAAAAAAAGGGTATATACCTTTTATATACTTTTCCTTTTATATACGATAGAAATAAAATCACTATCTTGAAGAGATATCTGCATTCCTGTGTTCATTGCAGCTTTATTCACAAAAACCAAAATATGGAAACAATCTAAGTGTTGACAGATGAGTAGGTATGTAAATTATGATATCTATCATCTATCTGTCTATTTATCTATCTATCTATCTACAACGGAATATTATTCCGTATTTAAAAGAATGAAATTCTGCCATTTCCAACAAAATGAACGAGCCTAGAGGATATTATGCCAAGTGAAATAAGCCAGGCAGAGAATGAAAAATACTACAGGTACAACAATGAAAACTTGCCATTATAAGATGAATAAGTTATGGAGGTCTAATGCACAACAGGGTAAAAATAGTTAGTAATAATGTATGCTTTAAGTTCACTGAGTGTAGATCTTAACTATTACCCTTTCCCAACACATGATAACTATGTGAAGACATGAATATGTTAATTAGCTTGATTGTGAAAGTCCTTTTAAAATATACTTGATGGGCGCAGGGTGAGAGGAGAGTGAGGGTCAAAACACTACCTGCTGGGGACTATGCTCACTAGCTGGGTGATGAAATCATTTGTACACCAAACCCCAGCAACATGCAATTACCCACGTAACAAACCTGCCCATGTACCTCCTGAACCTAAAATAGAAGTTGAGAAAAGAAAAAAAAAGATATCAATTTCCTATAAGGAGCTCCAGGTTTGTTCCAAACAGTAGCGAGACAAACAGATCAAGGATGAAATATATAAAATAGTAGGCAAAACGTAAACAACATGTGTAAGGCAATCGATTCTATATAACTCAGCAACTCCTAGGGTTCTTATCAAATAAAATCACTGATGTGTCATAACTTCTAAACTAAAAACAACACAAATGCCCATTCACAGTAGAATGAATAAATAAATTACTTTTGCTTCCCGCGATGAATACCACACAGCAATTAAACAATGAACTGCTGCTACACAAAACATAGATGATTCTCACAAATTTCAACTGAGTGAAACAAGTCAGACTCAAAAGATTACATACAGCAAGTTTCCATTTATATGAAATTGAGGAGTAGGGAAATCCATCGTGATAGATTTCATGATAATGATGACCATTGGTGAGTAACTGGTTGAGAAAGTGCGAGAGCCAGGGGTGTGGGAGCTGGAAATCGTCCATATCTTGCTTGATTTGGGTGGTGGTGATAGGGATATATACACTTATAAAAATTATAATGCTATATGCTTAAGATTTATGTATTTTACTATTTGTAAGATATATATTAGTTGAAAAAATGCTTCAGTGTAAAGGAAACCAGTAAAAATACGCTACCTACAATTGTAGCTTTTGTTTATCAAAAAAGCATTTGAGTAGTCTATTGATTGGTAATTAGCAAGTTTATGTTAAGCAGCCTTGTCCTGAATACTTTTTAGTATGTACCATTAAGCATTTGCCTTTCTCAACTAGGGCTAATTAAAAAAAACTCAAAACCTCACATTGTACACGTTGAATATATATAATTTTAATTTGTGAATTATACCACCATAAAACTAAAAATCTAATTAAGTTGAGTTTGAATACATTTTAGGGAAAATACGATAAAGAAAATTAGGAGCTTAAGAATATGCATAGATAAAAAATAAACTTGATAGAAATATTATTTATATATTATATATTATGTATATTTATATATATTTATATATAATATATAAATAATAATATATATATAAATAATACTATATGTATTTCAGAAAATCATATAAAAAGCTGTGCTAAAATTTTCCAGAGAGAGAGTAAATAGTTCTCCTGTAGTGGATTAAAATGAGATTAGCATTGGAGTACTAGCGTAATACAACAGATAGAGTCTGAAGTCAGATCTCAAAAATACAATATATTTGCTAAGTAATGCGAGACAAGCTATTTAAAGTTTTTGGACCTAAATATCCAGTCTGTAAGTTTGTTGGAAAAAATAAATACGCTAATAGAGAACTTAACTTACAGGGAGTGCTAAATTATTACCTGTTACTGGAAAACATAATATCAGTGACATTAAAAGCTTGAGTGTTGTAGAACAATATTTTGAAATATCATTTTTTGAAGTTATATACATATTTATATTACTTTAATAATTTGCACAACATAGGAAGGAAAGCTTGCTTTGCACAGGCAACATTTTTGCCAAATAATCTTTAAATCATCATGAATTCTCAATTAGATTAACAATAATAAAATTTTATTGTAGAAGACTATTTTTTCATTAATATAGTTGTACATGCACATAGGGTAAATGTAATATTTTGTTACTTGCCTAAGCTTTATAATGATCAAATCAAAGTAACCAGGGTGTCCATAATCTCAAGTATTATTTCCATATGTTAAGAACATTTCAAGTCCTTTAGCTATTTTGGAATATACAATACATTGCTGTTTATATGTAGTCACCTTACTCTGCTATGAAATATTAGAACATATGTCTTCCAAGTAATTGTATGTTTGGACCTATTAACAAACTTTTCTTTATTCCTCCCACCCAGAGAAACTTTCCAGCCTCTGGTATCTATCTATAATTCTATTCTCTACCTCCATGAGATCAATATTTTTAGTTTTCATGTAAGAATAAGGATATGTGATACTTGTTTTTCTGTGCCTGGCTTATTTCACCCAACACAATGACTTCCAGTTCCATCCATCTTGCTGTAAATGATAAAATCTCATTCTTTTTTATGGACAAAAAGTATTCTACTGTGTATATATATACCATGTTGTTTTTATTCATTCATCCATTGATGGACAGAGGTTGATTTCATATCTTTGCTATTGTGAATATTGCAATAAATATGAGAGTGTGGTTATCTCTTTGATATACTCATTTATTTACCTTTGGACAAATAGCTAGTAATAAATAGCTTGCACCTCTGGTCTCAGCTACTTGGGAGACTAAAGCAAGGGGATCACTTGAGCCCCCGAGGTTGAGGTTGCAGTGAGCCATGATCACTCCACTGCATTCTAGCTTGGTTGACAGAGTGAGAACCTCTCCCTCCTAAAAAAATCCTTAAGAAATGTGTTGATGCCTGGTTCCCTTGGTCAGAATTTTCATTTGATGTGTTGAGAGTGTAGCACAGATGTTGGAATGAACCTCTCAAGCTGATTTTAATGTGCAACCAAGTTTGAGAACCACCAAGGAAGAGTTTTTATGAATTAAGATTCCTATACTCTATCCTAGAACTAATACAACTGAATCTCTGGGAATGGAGTATCAGAATCAGATTTGAAAAGGTTTCCTTAGTAATTCTAAGGACTGAGCAGTTTGGATACTCGTTTGTTAGAGTAAAATGGTTAGGTACCTAGTATCAACATAGGCACCCAACCTGATATTAATAACTAGGAAAATAAAGGGTTGGCGCCTCTGTGTTTCTTTGTTGAAAAATCTGATACTATTCTTAGTTCTATGAAAACAATTGAAAATTTGGTTATTATCACCTTAAAAGTACAAAACCTATAGATATTGAAAATGTAATTATTTTTCTATAGGCATAGTTGAAATGATTTTGTAAATGTTATAAATCAGTTTCTTTATAAGCAGTTCATTTACATAAATTTTGTTAAACTGACATGATTCACTAATTTTCTAAATATAAATGGTTCAGCTCTCAGTTATTTTTAAACTAATGACCTGTGTTATACTTACTATTTTTAATGGGCTTTTATGATGTTTTTAGGTTTCTTTGGATTCCCATGTCCTTCAAGTGCTTTGCAACTTTGAGAAGAAGAAATTGACCACCTGGACTATGGAACTGTGCATAACAGCTTTGAAAGTGTATTTAAAAATTAAATCCATACGCCTTTAAATCAGTAAATTGGAAATATATTACATGTATTGTAATGACTTTCCTCAGATATAATAAATTGTTTTCTTTCCAATGGAATAGTGTTTGCATTTTTTGTTTACCTGGTTTAAGATGTGCAGCAGAACATAACTAGATGATTACATAATTTCTTTTTAAGGCAATTTTATAATATATTTTATTTATGATTATAAAAACTGCCTTTAAAAATTCTTACATGGATATCAATGCAGTTTCACTTTTTTTATTGTAATCTTTTTTATAATTATTTTATACTTGTCTGGCATTGAGTTTTATTGGGCTTTTGGTTTTTTGGAAGTAGGGTATTTATCCCAATTTAGAAAATTTGTATCCTTGCCATAATACAGTCTTCCATTTTTGTACCCCCAAATCTTTCATCTGTCAGAACATCACTCAAAGGTGAAAATATTTCCCACATAAAATTATTCTGTTCCTTTAATGAAATGAGTTTCAGCTGTATATAAGTAGGAAAACTTCCTTTTGTTCTATTTGATTCCTTTTTACGGATACTTTCTTGAGGCTGTGATTACACCTTTACCTTAGAGGCACTGCCCAAAAAGACTCAGCTCTTCTGTAAAAATGCTGTTATGAATCATAGCTTCTTAACTTTTACAACATAGTGAGGTAGGGAAAGTAAGAACACTAGAGATAGGAATTAGAAGCATGGAGAAGTGAACCCTGGAGCTTCCCAATGGTGAGATACCAAATAGTTCAAGAACTAGTAAAGAAGACTACGGAGGAATAGCTAGAAGCTAAATGAAGAAAGTATCTCAAACAGGAAGGAGTGATCTGTTAATGTGTTAGGAAAGTTGAGTTCTTAGGATTAAGCATTGGGTAGAGCAAGATTTGGGACCTTGACTTTGACGAACTTGGTGGATGTCAGGAGTAAGAGGAGGTATTCAAGAGAATGTTGGAGAGGAATTTAATATAGTGAGTATTGAGGACAACACTTAAGGAGTCTTGCTTTCAAGGGGATGTGAGAAATGGGTTGTTAATGGAGGGTAATGTAGTATCAAAAAGCTGTTTATTTTGAGATCGATGATATAGTAGGTTTGTATGCTAATGGGACTGATTCAGTAGACAGAAAAAGCATAATGCAGGAAACAGAGGGATATTGCTGAAGCCATAGACCTGGGACACAAATAGAAGGGTTAGTTTTAAAGATAGGCCCACAAACAGCTCATTAGTAACAGCAGGATGAAGGGCAGATTATGGAGTTCCAGATGTTTGTAGTCCAGTAGATAGGAGGAGCATGTCAAATTTTTGTGATATTTTCTCAGTGAAACAGGAAGCAAGCTCATAAAGAGGGAGGAAGTCACGAAGGAGTAAGGAAGGAAAAGGAGATGTAAAATGAATAGATAGGAGTGTAGGAAAGTAAGCATACTCTTAGGAAATCTGTGGTTTATTTAAGTGGTATCAGTCAATGTGGTTCTGTGTTTTTCTCCAGTTGAGTTCAGCATAGGTGCTATCACTGAAAAAGTACAGAATTCAGTTTAACTAAAGGTGAGATTTCTCTAGGTGAATAAAACAGTCAGTGATGAGATGTTGATACATTTAAGAGAATGATTATAAAAGAGGGATGTGGAAAGTAGTCTGGGTTAAGTAGTGAAGTGAGAAAATAAAGAAGGTTGAGACAGTGGAAAATGGAATGATCAATTGTAGATTGCAGTGTGGTTGAAGATGCAATGGACTTCTTGAGGTGGGAACTAGAAATTTGGGGGATATAAATAAGAGAGGGGTGACTGAAATTGAAAATATGAGAGTATAATAGTATACAATATTACTAAGTATGGTATACTAAGTATAGTAGAATAGTACTAAGTATAGTAGAATAGTACTAAGTATATAGTACTTAGTGAGTATAAGTTTTAGGATGTGAAGAGGGGAGTAGCGTAGAGGCAAGGTGATGGAAGCAGATGAGTTCAAGAAAATGAGAACCTAGGAGATTGAAACCATTATCTAAATGAATTCTGAAATCTCAAGAAGAACTGTGCTGAGTGCTTGTAGTCATTATTTTGTCTTTACTACTCTGTGAGAAGACAGCACTTCCTTTTGTGAGTAATGGAAAGTTCTTTAATATGTCAACTGTAAGATACTTTATTACATTTAATTATCTTTAGTAATGCATAGTAATAACTAATGACCTCAGTAGGATTATTCAGTAGATATGTGAGCTAACCCCCTGTGTCAGACACCTAAGAGGAACAACTGATGTTTTTCAAGACGAATAGAGGGTTCTCATCCCAGGGTTTTAAGCTGCAAAATATCCCACCCTATATTTTCTGAAAACAAACGTTATATAGAGTGTCCACATAAAAGCTAACAGGAAATATTACACACACACACACACACACACACACACACACACACAGCATTGAAAATGCATCAGGAAAGATATACCCTGTACCCAACATGCACAAGGTCTAAGCAATGAAGAAAATCTAGGAAATCAAATAAGACCAGAACATCTATGACTAATATATAAATACTTGAGGCAGTTATATCCATTTAAAAGGTGTCAATTAGACATGAAAGAAAAAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAACGCAGGCGGATCAACGTGAGGTCAGGGGTTTGAGACCAGCTTGGCCAACAAGGTGAGACCCCGTCTCTACTAAAAATACAAAAAAAATTGCTGGTTATGGTTGCACGTGCCTGTGGTCCCATCTACTTAGGAGGCTGAGGTAGGAGAATCATCTGAACCCAGAGGTAGAGATTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCTTGGGTGATGGAGTAAGATTAAAATATATATATATACATTTTTACATAAGAAATTTTATTTTAATTTTTTTGTAAATTAGAAAATAGCAATTAATATGGTATTTATATACCAGAATCTTTGAATATCTAAAATTTAAGAAGATGTGAGCAATTTCATGAAACTTTTCAAAGCTTAGAAAAAGGTAGCTATGTAAAATAACAATGTATGTTGTTTATGGGAACATTAGATGAAGTAAGTCATGAAAACATGCATAGAAATGATCATATAAACTTGCAAGAAATTGAATGTCTTGCTATCAAAGGAAAGGATGGAGGTGTAAGAGACTGAGGTAGAATGTGAGAAGCTCTGTATATATTGTATTTTCCTTAAAAATATATATTTAAACTCGCATTTCTTGTTTTTCAAATGTTCACTCTAATGAAAATTCTTTTATTTTTCCTGTTACAGTTTTTATTTCTGATCTCATATATGCAGTGTACTGTTGTTCAGAAATATCATTGATCCTCCCTGCAAATGAAATACTCTCATCCTGTTGAATTTGAGAATGTACACATGATTTGCTTTGGCTTTGAAATGTGAGCAGAAAGAATGTTTTACTTTGGGGAGTTCCCAATTGCTAAACCATGTGTCAAAATGAAGTTTTTGTGACATTACAAATGGACTAATAAGAGTGCCTTTGTTGATCCTAGTTGAACATGAGAAACTTGGTTATTGTAAGCCACTGAAAAATTTTAGTTTCTTTTATTACTGCAGAATAGCCTATTCTGTCCTGATTGATACAGCCACAACATTTCCTTAAGCTCTTTGATTTTCATATTGCCATTAGGATGTAGAATGCCAAGAGAAGGATAAATCATAGGATCAGAGAATGTTAGCAGTGAACGAGACTATTGGAATACATTTTTTCAATGGTTTCCAGACTTTGGGTTCTAAGTAATCAGTAATATTTCGAAAAAGTAGTAAAAGATATTTCAATATAAAAAATAATGACATTTAACTTTGAAAAAAAAAACCTATCATTGCTAGGCATAATGGGTCTAGCTTGTAATCCCAACAACTTGGGAGGCTGAGGAGGGAGGATCACTTAAAGTCCAGGAGTTTGAGGCTGCAGTGAACCATGATTGCATCTCCACACTCCAGCCTGGGTGACATAGGGCCACCTCAACAACAACCACCACCAAAGCTATCATTAATACATTGTTCCTCTGTCTCTCTTCCCATCCTCCTTACCACTTAGTCTTAAATCTAATCTTATTAAACAATATCTAAGGAAAAGATAAGAAAAATGATGGTTGCATCTATACTGAACATGTGTTGACTTTTTTCTTGTCACTATTTTCTAAACAACACAGTATCACAACTTTTGACATAGCATTTATGTTGCATTAGTTATTATAAGTAATCTGAGATGATGTAAAGGTTATATGCAAATATTATATTTTATATAAAGGACTTGAGTAATTATTACTTTAAGTATCCATGGTGGTTCCTGGAACAAATTCCTCATGGATATGGAGGGAGGAGGAATCACTGTAATTAAACAAATCATCACTTTAAAACTTAAAACCTTTTGCATGTTGAATACAGTCATGCACCACATAAATGATGGTGGTCCCATTAAGTTTATTATGCCATATTTTTATCGGAAGTTTCCTATGTTTAAGTGTATTTAGATACACAAGTACACTGTGTTACAGTTGCCTATAGTATTCAGTAAAATAACATGCTTTACAGGTTTGTAGTCTAGGAGAAATAGGCTAAGCCATCTAGGTTAATGAAGTCCATTCTATGACATTTGCACAGTGGCTTAATTACCTAAGGGCTTTCTCTTCAGAACCTACTCTTGTCATTAAGCAATGCATGACTGTAGTTGGACAAAAAATAATAATGCAGGCATACCTTTGGCACTGTCCTAATTCTTACCAGCATCCATGATTGCTTAAATTTGCACTGGAAAGACTTCAAAAAACAGTGATATATTAGGACAATATATTTCCAGTACATGACAAATGATAACAACATAAGAACTCGAAACACTCAATAAAAAACAAAAAATAAAGCAAAACTAGATGGGAAAAGGAAGAAGCAAATTTCAAGAGAAAACTCAAAAGGCCAAAAAATGTGAAATGATGTTCAGCCTTGCTAGTAATTGGGAAAAACACAAATCATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCACGCTGGAGTGCATTGGCGTGATCTGGGCTCACTGCCAGCTCCACCTACCACCTTCAGGCCGCCATTCCCCTGCCTCAGGCTCCAGAGTAGCTGGGACTACAGGGGCCCACCACCATGCCTGGCTAGTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCGTCTCCTGACCTCGTGATCTGCCCGCCTCAGCTTCCGAAAGTGCTGGGATTACAGGAGTGAGACACGTGCCCGACCCAAATCATTTTTAATCTATTAGTCAAAAATTAGAGCTATGATAATATTAATTTTTGGTGGGAGTGTGGCAAAAGGTACTATAATATACTGCTACTAGAGAGTAAAAATTGATAAATTTTGTAAGGGCAATTTTGCACAATATGAAAATATAAAAATATGCTTCATGTTTACCATACATTTATCTAGCATACAGAATTACCCATGTGTAAACATGTATACAGATGTTCATTATAACACTTCTTATAAAAACAAAATATTTGGAAATAAATGTTCATATTAATAAGGCGCATACCGTATGATCTTAGTCCAGTTAGAATATTCTGTTTTATTTCAATCCTTTAAAAGACTCAACTTCTGACTCTATATAGACGATTAAAAAAAGAATGTGTTCTCCCTTTGTGCATTTGGTCAGGTAAATTAAAAAATACACCACATGCTAGCCGCACCAAACTGGAATAAGCCTTTGGAAAGAAGTTGTCCTTGAAGCTTGTATCTGACATTGTAGCAGGACGAGCCTCAGACAAAACCTCTCAGACACTGAGTTGTAGAAGGAAGGGCTTTATTCAGCTGGGAGCATCGGCCAGCTACTGTCTCAAAATCTGAGCTCCCGGAGTGCACAATTTCTGTCCTTTTTAAGGGCTCACAACACTAAAGATTTCACATGAAAGGGTCGTGATTGATTTGAGCAAGCAAGGGATACGTGACAAGGACTACATTCACTGCTGGTCAGGGAGAAACAGAACAGGGCAGGGAGTTTCACAGAGTTCTTTTATACAATGTCTGGAATCTGTGAATAATATCAGCTTCTAAATCATAAGTTGATTTTTAGCTACTGGGTTTAGGCCAATCAGGCCCAGGCCTGGTTTCAGGCCTGGCGCTGGGCTGCATGTCTTTGGTTGTACTTCCTGGTTGTTTTTACTGAATAGAAAACAATATAAAACAAGGAGAGGGTCTTTGTCTCCTCTCAATATCAGCACTGGATTGTAGAATGTGTTGCTGATTTTGACCTTGTATTCAAGTTAACTGTTGCCCTTGGTATCTGTACATATCTTTGATTTCAGTCTTTACTACACGTGGCTTGGTCACTTCATGGCTAAAAACATGCTTGTGGAAGACCAGTCTGGCTCGGTGAGTCTGTGCGGCCAGCAGTCTCTGATCTGTACAGGGTATTAATGTGTCAGGGCTGAGTGTTCTGGGATTTGTCTAGAGGCTGGTAAGGGCTTCTGGACCACTTGTTTCTGTCCTGTCAGTCTGTCAGGGTTGGAAAGTCCAAGCCATAGGACCCAGTTTCCTTTCTTAGCTTACGTTATCTACCAGAGCACCGTGGGCTGTTACTTACCTTGAGTTGGAAGGGGTTCGCATTTATACCTGTAAAAGTATTCATCCTTTTAATTTATGTAAAGTTTTTTTGTATGCCATTCTGGATCTTTAAAGAGATGACAACAAATTTTGGTTTTCTACTGTTATGTGAGAACATTAGGCCCCAGCAACAGGTCACTGTTTAAGGAAAAATAAAAGTGCTGCCAGAACCTAAGAAAAACATTAATATCTAAAAGGTCATTTAGATGATTTCCATGAGAGACTTTTTGATGTTCTTTACCTGTTAGGATTATTATTGATAATCCTTTTCAGATTATGAATAAACAGTTTGCCCTCAAGTATTTATTCA	GCTAATATTTACTTTGTAAAATGTGCTTCTTACAGGAATATAAATAGTTTCTGGAAAGGACACTGACAACTTCAAAGCAAAATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAATACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCTCTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTGGGTATGATTCATAGTATCAATTGCAGAATTCACTATGCTTGTAGTAAATAGTATTCTGATCTTATCCGTGAAGCTTAGGCAACATTTTACTTCACAGGTAAGTATTCTAAGTAAGAGTTTTCTGAGGAAAAAACAATGTAGTATTCTTGGCAACTTTATATTTTGTTTCTGAGATAATCTTTCTTCAACAAGAGCCCTCCAATGTGCTGTTAATATTTTCAAGAGATAGCTGCATATACCAAGATTCAAGAATTTTTTATATTATTGATTAGTTTCTAGAACATTCAATGATATAGAGTAAGAATTTGGTAGTTATGAAGACTGTTTAATTTGTAGGTCTCTCCACCAAATGAAAATGTTGCAATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTTAGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGATGTAACAATGTTGGGGTAAGTGAATTCTAGTTTCCTTGAAAAATAACAGATAGGAAAATGATTTCTCTCTCTTCTTTCTTGCTCCTTTTCAGCAGAAAGTTTTCCATATTTTATTTTTTTAATTTTACTTCATACTTTAAAACTCAAAATTAACCGTTGCCTTATGTTCAGCTTTTGTAAATATTTGTGTATGTGCTCTCTATCTACCAAAGAAACAAGTTTAAAGCAGAATTTACTTCTAAAGCAAAACATCAAATTTTAACTTTTATACCTATCTATATTTCCTGGAAAGAGTTTTCTGGTTAAGAGTTATAATTCCAGTTACAATATTTGCTATCATTTTTAGGTGACTTGTATCTCCATCCATAATTCCTGGGTTTTTCGTGGTGACTAGCTAGCTTCTCTATTTAATGAGGAGCATAATTTGAGACTAATAGCTCCCTTATTTGTCTTCAAAAGCTTAGTAGAGAGTACAGGCTTTCTCCTGGTGACCGACTGTAATTTCCAAAACAGTAACCTTTCCAGTCTCATCTGAGTTTTGTCTCCCCGAAATGGGCTTTTTGCATTTCCTCCTATTTATGGTAGTTTCTGGTTCTCTCAATTTACCATTACTATAAATATTTGACCAAGTGTCTAGAAGGCATGTAGGTGTTTAGTTCACATTACTTCTTCACAGTTGATTTTTGATCTTGTAGGAAAATAGTTATAAGATATCATGAAATATTTTGGAGTTTTATTAACATACTATAAACTTGAATCAATAATGCTTTAAATTTCTGCCTCTCTGTAAGTCACACTGAAGTAGAAACTTTGCTTTCTAGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTCTGGTAATGCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGACTTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGTGGAGATATCGAGAACTACAATGATGCTACTCAGGTAAATTTTTTTATGAGAGTCATCTGAATAAGGGGTGATATATGCCTTTTCTTGTAGACATGTAGCTAATTGAACTTCATTTTAAATACGAATTTAGATCTCTTAGGGACACAGGTTAACAGGTTTGACTACTTTAAGAAACTCAAATCCATATTTAAAAACTTAAATATAGATTTAAGATTTTTAATCAATACACATTTGCCCACTTTTAAAAAGCTCCCAACCAATTAAAAAGCTCGTCGACTTTATTTCCTAAATTCTCTATTTTCTATTAGAAAATATTTCCAAGATACATCTATAGTAGAATGTGAGCATCCCCAGCGCCCAATGCAAGGAAGTCACTATAGAATATCTCTTGAGGAATCATGGAATAAATGAATAATCAAATGGATTCTCATGTGAAAAATGAGGTTTTATGAATCAATCATAACATTTTTACCTCAACAGGTCAGAGATTGTCGTCTGGTTGGTCTTCTTGATCTTGCACTGGAGAAAGATTATGTGCGTTCCAAGATTGCCGAATATATGAATCATCTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGAGACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGAAGTAAACCTTTCATTTACCAGGAGGTACATCAATACATATATGCATATAAAATATCATCTTATTCATTAGAAAATAATGGCAGATTTAATTAAAAATGCAATTTCTATAGGATAAGGACTGAGTCATTTATATAAAATGGTGTTCTTTAACCTCCTCTTCACATACAGCATATCTAATTCTTTATCACAAACAAAACAAAACAAGACAAAAAGAAATAATAAATAGCTTAATTTATTAATAAATAACAAATAGCTTAAAGCTATCTTTTATATAATATTAACTTATTGGTTAAAATGCTTTAAAGTCCTTATGCAAAATGTTACTTTTTCCTAATTTTCTACTAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTTATTCGCAAGTGGAATGGAGAGAAGATGTCTTACCTAAAGTAAATAAATACAACTTTTCCCCTGAAGTATTTCATAGATTTATTAGTCATAGTACCCCAGTGTGAGTTATCTTCTGGAACATTCTTTTTCAGACAACTATCAAGGAGTCAATTGTTAATGATAAGTATTCTAGTGCCCTAAACTCTAATCAATCATCTTTTGTATTTAGAGTGTCTATCACAAGTGAGTATGCCTAGGAACGCTAAACATATCCTAGGAGTTTCCGTCTAAGTACGAGATGAATATACTGGATTTGACTGATGTTTGCATATAATCTTTTAAAGCCAGGTTATTATTAAAATGATCCTATCATTTATAAAGTATGTACAAAGTTTCCATACTGTAGAATTTACATATATTATATGAATTAAAAATATAAAAATATTTATATTATAACAATACAGTATTGAAGCCTTATTTTAACCTAGTTTGACATTCCGTAAAATGTGATATGGATATTGATCCTTCTGGAGTGCCTCTAAATGATAATGTGCTGAAACCTCTGAAAGGACCTTTTTTAATAACAAAAATCTTATATTTGTAATATGAATATAAGTATTCCATACTTGTATATACGAATATAGACTACATATGTAGATTACACACGTGTGTGTATATGGTGTGTGTGTGTATATATATTTGAGTGTGTGTTTGTGTGTGTGTATGTATATATATATATATATATATATATCTTACAGAATAACCATTTAATTAGAGAAAGAATTTAATCTTCAGATGCCATGCCATGCAGAAAGAGATGCACAGTTAAGTTACTCGCAAACTATTGTGAAATGATACATCAACATATATCTTATTTTTCAAAAATAGGAACTGGGGAGAAGGTTGGGGTTTCATGCCTTCTGACAGAGCACTTGTCTTTGTGGATAACCATGACAATCAACGAGGACATGGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGTAGAAAACCAAGTTCTCTATTTTTTTTAACACATCTTTTAATGATGGTAATGATATTCTGATATTCTGTGATAATATAATTATGTAACTTTCAGGCTGTATAAAATGGCAGTTGGATTTATGCTTGCTCATCCTTATGGTTTTACACGAGTAATGTCAAGCTACCGTTGGCCAAGACAGTTTCAAAATGGAAACGTAAGTTTTGAAATTGTTCAAACTATCCTTTTCTCAAGAAACAGAAGGCAATCTTGTTCTAACTTAATATGACAACTATTAATTATATATTCAACAAATAATTGATTAGAAACCTGATATAGGGCTGCGATTTTAGTAATGCAGGTTATATTAAAGGAGTAAAATATATATTTTCCATTGACAAAGAGTATGCAAGCCTTTTCAGACATATGATAAACATCCCCCTAGCCCACAGGAAAAAAAAAAAAACCACTTAAAAATAAGAGCTAGGCACAGGGATTAAAATATATACTTCGAATAAGTACCTACCTCAGGGTTAATAGGAAGATTATACATGCCAACACTTTTAGAGAACTTAAAACATCATCTGCCCACAGTAAGAACAATATAAATGTTCGTTAAATATTTTTAAAAAGTTATATGGAATACAAAAAAATGATTCAGTTGAGCTGAGTTAAATAGGGAAAAGTATCTAATAAGAGGAAGGAAATTATATGTACTAAAGAATGGAAATTTAGAGAGTATTCCAAGAAAGGTAAGAATGAGAAAAATATTTGGGAGTATGGTAAAGACATTTATCTGATGAGTAGTTTCAAAAAGGAACAGAGAAATAAGAGTGTACAGATATTTGGAAAGCTAGTAGAAGGTTTTCTTTAAACTAAAGGGTTCAGAAACAGCATCAGAGACTTCAGATCTAAAGCAGAAATTCCTCCTTCCTCTGAGTCACACAGATATCTAGCTAGCTTTTTTTAGATTCCTTTCAGTTTGAGAAGTCTGTTACTTTGTATAGCAACTGATTCTATTGTTAAACAGCTTTAATATTTAGGTGTACTTTTATATTGAGCCAACTTATCATGATTTCTACTAATTGGTCTTATTTCTGATGTTAAGGGTCACAGAGTATTTTTATTTTTTCTATCACTATAACTTTTCCACTTTCCAGGACTGCTGCATGCTAAAAACTCTTAGTTTTGTTCACTTTTCACCATATGACATAATTCTAAGGTCAACACTGAAAAACTTCCTAGGGTTACTCTGGTTTTTTTAATTAAGATTTTTTAAAGTGCCAATCAGAAAAACATAATATTAAAACTGGTGTCAATTTATAAAAAATGTTCTGATGTATTGTTTTGTACAATTATCTAAACAGAAGCATGATGGACTCTAATATTTATTGAGCACATGTCACGTTCAAGGCATTTTCACATATATTACTTAATTTTTATAGCAAAAAAACAATATTCCCATTTTACAAATGAGGAAACTGAGACACAGAGAAATTATGTATGTTGATTAAATTTTCTTAGCTACTGTTAATAGAGCCTATGTTTTAATCCTGGTGTTTCTGGTACTAATGCCCTTCCCATTTCAATGACATTGCATGGCTTACAGTGATGTTAAGAAGCCCTTGCAGGCCAGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTGGCGAGTCCAGGCGAGAAGATCAGCTGACCTGAGGAGTTCAAGACCTATCTGGGCAAGCTAGCAAGACCTCGTCTTTACTGAAAATTTTTTAAAAATTAGCTGGTTGCGGTGGTGCACACCAACAGTCTTAGCTACTTAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGATCAAGGCTGCAGTGAGCTATGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAAGAAGCCTTTGCAGTTCCTTGGAATGAAAAGGAGAGGATAACAATTTGTTACCTTTGTTTGAAATATGGCAAAAGAGAACCAGAGGATAGAGAGATGATGAAGACCCAGTAAAGGGCTATAAAAATTATTGAAGGCATTGGATTCTAGATAAAGTCATTGAATGCAGAGACACAAGTAACAGGATAGGTTGGGTTTGGTTTAAAGGAGAAGGAAGAGGTAAATATATGTATGTTAAAATTTGGCTTTTCACCCCCTAATTAAGGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGAGTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAACATCGATGGCGCCAAATAAGGTGAGAATATGTATTTAGACATGTCCTCTAATAGTAAACTTTCCATTGCATTTTATTTAAAACAGTTGAAGTTTAAGAATATCAACGTTTTATATGGTATTGTGTTTTTAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCTTTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGATTCATTGTTTTCAACAATGATGACTGGTAAGTACATATCAATTAAAAATAATATTTTGTACCTGTATGCTCTTGGTTTATTCCTTTTTTTCTGTTCATTGACATTTATCATATCTGAAAAATCATGTAGTCAGTGGAGCAAGAAGACAATAGACATCAAAATTGGGCAGAAGTAAAAAGATGATGGCTGTTACTCCTTCATTCTCCTGTTTTATTAAGGGCTTTCTGTTGTAAGCAGAGTCCTTTCTGTGCACCCTTGCAATATCTTATGCATATATTGAATGCACATACATATGCTCACCTACACATGCCACAAAATACACAAAGTAGTTAATATGAGGATTGTGAAATCATTAAAAGAACATGTCTTATATTCCTGTTTTTTTAATCATGGAAAAATGCTGCCTGAGTACTAATATATCTTTATTTCTAACTCTTTTTCTCAATGACTGCTCTATGTAGTTTTTTGGTATACTTTCTTCACTTCTCTGTCTCCTTGTGACAAATAATATTTTTAAAGCATATGCATAAATAATATGTATCTTGTGGTTAATGATTGGCTTCAGGGGATTTGAGTTTTAGTTCCGAAACTTCTCATTATTGGCCTTTCATCTGTGATTCTTATATCCTTTACTGAAGTATAAATGATTCCCTAACCTATAGCTCAGAAGACCTCGTTGCAAACAGTTGAATTGTCTCTGTCCAAAGCCAACTGATACTCATACTTAGCTCATTCTAGTATAAATTATATTTCACTGATGAAAAATAAATAAATACATAAATACATAAATCTAGTTGATCTCTTTCCTGCCAAAAAAGCCCATGTCTAGTTCTTTAATTTCTTTCTTTTGTGGATGAAAATACCAAAATAAATTTTTGTGAGAAAGCTTTATATTTCAAACTATCACTTCTTCATAGAAATGCTAGATTGTTTCTATGTATGCCCCAAATTCTTTTTTACCTTATGGGGAAAAAAGGAGATTAAAAAAATAAAACCCTTTAAAAATTTTTTTTTAAATTATACTTTAAATTTTAGGGTACGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACCCTTTAAATTTTTAAAAGTAATTTGTATTAAGTTCAGTTGAGAACAAATTTGATTTTAACAAGCTAGCACTTTTATCAAAGTGTGACCATTCCTGCCAATCTTCAGTGATATTCTTCAACTTTGATTTTTTGGTAATATTTTCACTACGGACCAGGGAACTGCTACATTTTCTGTAAGGTTACTTTTGGTCCTAGAAAGCTATTTACAACTACTAGGGAGGCATATGGGTTTTCTTCTTAATGAGACTTCACTGCTTAGGGTTCTACAACATAAAGTTATGCTGTTTAGTTGTGTTAGCCTGTATTCTTGATTTTCAGTGTATTGAAGTTAAATCTGAAATTTTATTTTACAGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATTAAAATCTACGTTTCTGACGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAGGATCCATTTATTGCAATTCATGCTGAATCTAAATTATAAAATTTAAAATTAAATGCATATCCTCAAAACAATAGCCAAGTGTGTTTCTTTTCTTACATATACAGTAATACTTATATTTCATTAATTTTTAGTAAAAGCTCTAATTAGTAATCAACTTGTAAAATTCACAAAAAAACCAATAGTATTAAAATCCCACTTAATTGTTGAATAAGTGTAAGATAATAATAGTCAGCAAGTTGTTATGCTTTAGAAGACTGACTTTAACCTATTTAAGCTATGAACTCAGAAAAGCATCTCAACCAATATGTTTGTTGCCATTAGCATCATTTACCGAGCTGTGTACCTTTAATTTCTGCCATTCTATAATCCTTCCAAGGAGTGTTTTTATCAGTTAGTTAGGGATAGCTGGTTTAATGCTGATTCCCATGCAAAGTTAGCCCGGTTGTATGCTTTTTATAATATGCAAGTACTTCTGGTGTTAATAAGGTTAAAAAATAGAAGAAACCTAAATTATACAATCTACAGTTATCAGTTCTATTGAGCTCACTGGAATCTTCTCCTACTTTATAGACTTCCTTCTTTTTCATTTTTTTCCTAATTGCTTAGACTTGTTGTATATGACTTTTTGTTCTTTTTCTTATTCTACAATCTGGATATTTATTTAGGGCTTTCATGACACCTTGTAGTCTGGGTTTTCTTCCCAATTCTCTACCTATTCATTCTTCTTCATCTTGACTTTACATATGGAATTCATTAGGGCTCTCATCTAGGTTTCCTTATAACTCTCAGTTGTTTTGTTTATGCTTAAATGAGAACATAGAGGCCATAACTCAGAAACTGTCTATTCTTCACCTATAAATTGTCCCTGCCACAAAGCAGATTCACTGTGCATTGGTACCACTTCGGCTCACTGCATCTTGGGCTGCAGTTTCTACTACTTAAGATTGAGTCCAGTGATTTAGAACATACACACAAAAAGTTGCATGAAGCAGGCTTATTGCTTATAGATAGGCATCAAGTGACACAGAAGCCCGGCGTTCAGGAGGAGCCAGCCTCCCAAGACTCAGACCGTTTGCCCAGGGTGTTGAAGACTCATTTGCACATGCCCTATTTGTACCACAGCTGAGGGACCCTTGAAAGAAGCCTGCCCCGTGTTTTATAACCCAGGCATCCCATGATACACTGGGCTAAAGCACTTAAGGAAATGTTCTAAGAGGCACAGTAAGAGAGTCTGAGACTTATCTCAGGATGTTGCATTCCCAGCTCATTCTACAGCTATTCTTGAGATGCACAAGTTATAGAGGAGGAAAACCTGGGTTGCTCCAAGGCCACTTGGAGAGTTGTCCTGCATTTCCTCTAGCATTTTCCTTTTTTTTCTCCTATTACAATAAAGAAAGTACATGTCATTCTAAGAAAGGCCATTTTCTCTGCTTAAGTTAATGATACCATTCCATTTTTATCTTTTGGAGGACTTTAGATTATCCTCCCTCTTTTGATTTAGCAGTCTTTCCCTTTCTTCTGCATTAGTCATCCTAGATTACATGTATTACAGTCTTCCAATTAAAAACATCAATGACCATCCTCAGATATTCTTCTGGGTATATTACTTTGCTCATTTCCTTGCTCCCTCTCCTAATTAAACATCTCTTTTTATCACACTGTCTCCACATCCTCAGCCTCCGTCATTATTCATCTCTCTACTGTCCAGTTTTCACCATTATCACTTCATTCAGTCTGCTCTTGTCAACATCATGAGTGACATTTATGTTACCAGTCCAATATATTTCTCTGTCCTCACCTTAAACCACTTCATAGCAGTATTAATGATGGTGGGTCACTTTCTCTTTCTATCTTCCTTTTTTCGTGTTATTCTACTCTCCTGGTTGCCTTCTGTCTCATTGATTGCTCTGTTTCAGGTTTTTGTTTTTTTTTTTATCTTATTCTTAGGTGGATCATCTTATTCTGTTCCACCTAAGTCCTAACTTTTATCTATTTCTCTTCTTTATCTTCTCTTCTCTAGGTGATTGGAATCATTTCCATGGATTTTAAACAAATATTTTCTGTGGACACCTAGGTATCTTCAATTCAGAACTTGGACTTCAGCCTCATACTTCCATCAGATGCTTGTTATCACCACTTCCATGTTCCACAGACATCTCATAATTAACATATTTAAAATGGAACCCTCATTTTTTTTCCTTGCATAAACCTTTTACTACATTATTTTCTTACTGCTTAGAAACCCAGGATATTTTCTGATTTATCTCTCTTAGCTCAACAACTTTATCTCTTCATATAAACCTTAGCATGAACTATTAATTGTATCTTCAAAATATCTCTTCATTTATTGCACTTCTTTTGTATCTTCTATCACCCCTTTATCCAGCTCACAATTATCTGTTCTCTGCATTCCAAAACAACTCTGCAACTGGTCTCCTATTTCCATTATTTTACTGTCTCCCTTTATTTTACTAAAGACCACAACATTATATTCATACAATTTAAATCCAATTAAAATGTTAATGCTTAAAACTCTTAAATTTTTATTGCATTCAGAATAATTCTAACCACTCATGGTAGCCTACAAAATCACACCTTATCAGACATGAACCTCAGTTCTATTCTTTTCCCTTGACAATCCCATAGCCTTAGGTATTCTGGTCTTTCGTCATTTTATTAAATATGCCATGTATTTTTATTTTATGTTGTGGACTTTTTGTATGTGTTTCTCCACTCTTTTGGAATCCTCTTAACTGAGTTCTTAGCATGGTTGGCTCCTGTTTTTATAAGTACTCCCAAACACAGGAACTAGCATTACCATTTTTTCAGTCCTGCAGTTCAGAAATCTGGGGCTTACGTTTGAAACCCTCTTCTCTTACATTTCCCAGAACAAATAAAGCACTGAATACTTTAGATTTTTGCATTCTATTTCTTCACTATATTATTTTCTCTTTCTACTTCTACTATCTAGTAACCCTTTTCTTCAATGACCAAAATCTATTTTACTTCCAGCAATATGGTGAAAAGACTATCGACTCTTAATTTAAAGCCAGACTTTATTGTTTATAACAAATGCATTGCAGAATGTAAACAGAGAATGTAATCACAAGCCAGGGGCTGGGAGCACTTCATATTAGTTTCTTAACATGTCAGAACCACATTCTTTCATTTTTATAAGAGAGTAACCAGAGAGCCACTTTAAGAATTTTTAGTGGTTAGCAGAGGAGTAGAGGAGAGTGCCCTTGATACACAGGTAGTGGTGAACATGTATCTTTACCCCCAGCAGGAGAGAAAAGATAAACATTAGAGACATAAGCTAGCAAGCTTCAAAAAGGATATTTGAAAGGGGTTTTGTAATGGGATATCAGTTTTTGTACAAGGGAATTTATTTGTACAAGAGGTTACGGAGCTTTTCTCGGAGAATAAAACAAGCCTGTCTATTACTTGAAATTTTAACTTTTAGAATAGCTTACGTGCACTTATGCTGATTATTGAGGGGTTGACTGCAGCATCAGCGTCCACTTCAGTCCTTTCTCCAACCATTCCATTATCTACCATGCGATCAGAGTGATCTTTTCAAATCAGATAACCACCACCACTTACCTTAGGATAAAAAGCCAAAATTCTTATCAGGGCTTGTAACCCTGTGCTTGAAGTCTTACCTCACTCAATTCTCCTCTTTAATTTCTGATCTCTAACCATGCTAATCTTTTAGTTACTGCAACTCAACAAGATCTTTTTAGTTCTTTAATTTCAATTCAAGAGACATTCTGCTCTTTCTGCTTGGAATGCTCTTTTCTTACCTCTTCTCCTAATTAACTCCTGTTCATCATTCAAATCTTAATTCAAATGCTGATCCTGCATGAATATTTATTCAGTATTAGGTCAAGTCCCCTGATGACTGTTAGCAATCTCTGTACTTCTTATCACTCAGCATAGTACTGTGGGAAATATCTGCATTGTTCTTTATTGAATCCTTAGTCTCAGGACATTATCCAGAATGTCTTACGAAGAGATCAATAATTATTTGTAAAATGAATTGAGATAATAATAAAAGAGAAAAATAAGAGAAAAAATGTATCTATTTTTGAGAAGGAGAACATTTTTAATGAAGATGTGGCCCTGGAATACAGATGTTTCTCTCATTTTTTTCCTATTTCTTCCCAAATTTAATTAATTTCTGGTTAACCCTGATTTCTCAGATCATAAAAATCATGGGGAAATCAACTACTTTGGCAATAACCCATCATGTTTTCAGGATTTGTAAGCCATAACAACAGTAAATTCTTTGGTGAGCTATACTCTCAGTAAGTAAATGAAGAATAATTCAAATATTATTGGGAAAATGATGCCACATTCATCTGAATATAATAAATGTGAAATTCATTTTACTATGTTCTTAGAACTTTGTAATACTAATTTATAATAGCAGTTTCATCCTTTAGATATTTCATTTTATCTACGGATCTAATTCTTCCTGTGAAATTACTGAGCTATTTCTCTATTCTTAGAAGAGAAAATAACTCTTTGTGATAAAAATCATTACTATGTATAATTAGACTTCCGTTTACAAGTCAAACTGAACCAACGAACTTACAATCATAGAATGTGACTAGTCACAGGGAATGGTTGGGGCATTAGCTCAGTACCTGTCCAAAGTGAGCTCATTATTATGATTATTAGTATCACCATTATCAATCAGCTTCCACATAAAGTGTACCTAAATGCTAGATCTATATGATAGCTTCCAAAATGACACTGATTTTTAATAATCCAAATCTTTAAAGAGATCACTTTCCATTTTAGAAAAATGAGATTTTTTTTTTTTTGGAAAAGATAGAAAAACCTCTAAGCATTTTAACCAAGGGTTTTAGAACACTTTATTTTTATGAATATATCAAAGCAAATTCCTTCTTTATTTTGAAAGTGACTGGAAACAATTTCACGGTCTTACTAAGGGCTAGTTTAAGTGAGTCTCAATTTTTCTTCTGTTTTGTTTGCTCTTACAACTTTCCTCACACACACACACACACAAAGGGAGATATAAAAAAATCTAGATATAACAGATGCAACTTACAATTTTTTGGTAAGAAATCATAAAGTTTTAGAAAAAATCATTTAGGAGTGTCAATAAAAACGATATTTAAGAAAACAGTAGGAAAAGTGATATATTAAAAGACTTTTAAACACCTTTCACAAGAAATTGAACAGATGTGCAAATACACATTATACGTTATCTATTTGCTCATTTTATCCTGTCCTTAAACATAAACTTTGAAGATAAAAGAAAGAAGTGTGGCTCAGGGTCACTCATGTAATCTGTTTTTAGGCAGAAACAGGTGTGTTGAAAGGTTTTTAGGTAAAACAACCACCACTTAGACTTCAATAAAGTAGTATTTATTATTTTCCTATAATTGCAAATTTACCAAATGTAACTCACTATTTTTTCTTTAATATTTTCAAAGATATTTTTGAGTAATTATTATATTTTCACAATCAATTCAGTAGACATTTTTGAAAAACTTATCTGAACCTAGTTTTCTCATCTGTGAAATGGAAACAATATATACTCTCTCAGTTTGTTGTGTCAAATGAGAAACCATATATGATATACTAACCACTGGTTCTGGCTAAATGCATACCTCCTCATCTTTTCAGTAAAGACATGACTGTTGGCCAGGCACGGTGGCTCACGCCTGTCATACCAGCATTTTGGGAGGCTGAGGCGGGCGAATCACTTGATGTCAGGAGTTCAAGACCAGCCGGACCAACATGGCAATACCCCATCTCTGCTAAAAATACTAAAATTAGCCGGGAGTGGTGGTGCATGCTGGTAGTCCCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAATGGCGCTGGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGCAACAGAGTAAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAAGTAACTGTTATTCTCAGTACTTTGGGCCAGCACAGTACTGATACTCTCCTAAAATCTAACTCAAAGAGAAAAATCACAAAGCATTGGAATTGGAGCAGAAAGTAATGTATTCTTGTTTGACATCTTTCCACATTCAGTCTGTGTACTGTTAGCTGAAAGCTAGTTGACACAAAATGCTGTCTTAACTTTAGTGTTGTTTCTAATTTAGTTCTAGGTCATAAAATTTGTAGGAAAGTCTAATTCCAAAACTTTATCAACAGCTTTGTTACGCTCAGGTATTATGATCAGATATCTTATGTGTGCTCTATGACCTCAAGCAAAGATTAAATAAATCTGTACATTACAGTGAAGACCCACATCAACCAATGCAACATACATTTATTTTTCGCAGCACTCTTTTAGGTGCTTTGAAACATGTAACCCATGTTTAAGTGCAGAGGATAGCTGGCAAGGCAAAATATAACTATATGATGTGTTAATAAGAATACAGAGGAATAGTTAAAGTGATGCATAATAAAGTACGGAAATATGTTGTTTGATTTCAAAGGAAGGGGATAGTACATATGCTGAAATGGCCTGGGAAAGCTTAATGATAAGGAAGGTCTTGAGATGGGTAAGAGAGATTTGTAAGGAAGAGAAAGGAGGGAAATTTATTCCAAAAGAAGAAAAAGTATGACAAAAGCACAAAGGAATAAATGAGATGAATGGCAGAAAATAGATCAGTTAATCAGTGAGGCTAGAGAAGCACGTTTATGGAACACTAGTGAAAAATATGATGAAAAGGTAGAATGTGACCAATAACAGAAGGATCCATTTTCTATCAAGACTTTCTTATTAGATTTGATATGTTCATACCAGCAATGTCATCTCTGAATATAAAAGATATCTGTACTTACGCAACATAATTATATGTTATCACTGGGAAATTCTAGGAAGTAATTATCAGTCCCTTTATTAATATTACTATAGAATTAACTTATTCAGTTATAGGGTACACTACGTTTATAGTTTACTTCCTTCCTCCCCCAGCCTCCAGCTTTGTAATTTAAATGAAACTAAATTCCATCATAATTCACTCACTAACACATAGGACTGCCAACCTCTGAATGGCTTTAGATTTGCGTGAACCTGTATTTGTCAATGCTTGCTCCAGGATTCTATTGGCATATGTCGAAATAATTGATTTTTATGACAACCTGCTTCCTGCTTACTGTTTTTTACCATAGGGAGGGAAAAAATAGAATTATCCCTTGATTTAGCTGTCAGTCAAATGACAACTCAAGCATGCTATAAAATTAAAGAAAGCCCCACATTCTACCAGGAACTGATGATTTTAGTGATACTGCTCTCTTTGTAGAAGAAATAAAGTATTTTCATATCTTATGATGAATATCACTATAATACATTAAAATATAGAATTGCATCCAGCAAAATATCCTGAAGTGGACAAAATATGCCCCTCCAAAATATGCCATTTTTGCACAATAATTTTTTTGAGCAGAAAGCAATTAGCTCACTGACTTTCACCTTTCTAAAAGCAAGACATAAATTTCAATTTGTAAAGACGTCTCCCTTTAGTGTACTTGTAAGAAAACTACTCCATAGACAACTCTTAATAGCTGATGACTTATCTGCATAAGAAACTTTATTAAACAATCCTGATTTAGAATACATTTCTTCCCCCACTTTCCCGTAACTTACCTCCTGCACCGAGCAGCCCTAAACTTCTTTTCTTTGGCTAGTCTAAGATATACACCCCAAATCCTAATTGCCTCTTTGCATCACATTTCTTTGTGAATTTCCATGTGTATGTACATAATTAATTGTTATTTTTCTTGTTAACTTGTCTGTGATCAGTTTAATTTGTAGGGTCCCAGACACTGAACCTAGGATGGAAGAGAAAAAGTGTTTCTGCTTTCCTATGGCTTAGGCAACCATGAATGGACAGGCAGGGCATCCCACTTGCTCCAGAGGCTGCAGCTCAATTGAGATCTGACAAAGCTGATGTGAAAACTTTACTGAACCAGATCCTGGAATTTTGCCTACAAAAATACAAATACAGAACTCTGTTTTTTCTTTTCCAAATTCAGATTTGCACGAGAATAAAATTATAAGAATTAGTTCTTTGGAATGTGATTCTGGTGAATTTTCTCCTGAGTATCATTGGTTATTGACCCTTTCACTCCCAGGGAGAGCCATTGCTTTCCTGTGTGTCTCATTTTGTGTCTTGAGCGCTTGGATTCACTTTCTTCCTGGTGGCAGGGTCCACATTGTTGGGCTTGCTGTACAGGCAGTCAGTCATCAGATTGTATGCCCTGAGAATTTGTAGATGGTCAGATAGAGATGCAGGTTGCACTGTCTTGCTACTGATGTTCTACCAACCCTCTCAGAGGGTTTGTCTAAATTTTTATTTCTTTTGGCTATTGCTGGGAGGAACTCCATATCATAAGGACTTCATTTTTGCACTCTCTTTGTGGATACCTCTTACGTTCTTGGCTATCTACATTATTAAATATGTTTTTTCCCTCTCTTATTAATCTTTTATTTATTTAAAAGTGGTGGGTTCCCATGGCCTTGGGCATCTCTGCCTCTGTGGCTTCACAGGGTATAGCCTCATCCTAGCTGCTTTCCCCGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCAGGGACAAGCTGTCGGGGAATCTACCATTCTGGGATCTGGAGGAAGGTGGCCCTCTTCTCACAGCTCCACTAGGTGGTGCCCCAGCAGGGATCCTGTGTGTGTGCTCTGACCCCATATTTCCCTTCTTTACTGACCTATGAGAGTTTCTCCATGAAGGCCCCGCCACTGCAGCAAACTTCTGCCTGGACATCTGGGTGTTTCCATATGTCCTGTGAAATCTAGGGGGAGGTTCCCAAACCTCAATTCTTGACTTTTGTGCACCTCCAGCTCAATAATACATGGAAAATGCCAAGGACTGGGGCTACCACCCTCTGAGGCAATAGCCTGAGCTGTTCCATGGCCCCTTTTAGCCATGGCTGAAGGGGCTGGGATGAGGAGCACCAAGTTACTAGGCTGCACACAGCTCAGGGGTCCTATGCCCAGCCGAAGAAATCACTTTTTCCTCCCAGGCCTCTGGGCCTGTGATAGGAGAGTCGGCTGTGAAGACCCCTGACATGCCCTGGAGACATTTTCCCCATTGCCTTTGAGTTTAACATTTGGCTCCTCGTTACTTATTCAGAGTTCTGCAGCTGGCTTGAATTTCTTCTCAGAAAAAGAGATTTGCCTTTTCAATCATATCAGGCTGCACATTTTCCAAACTCTTATGCTCTGTTTCCCATTTTAAAACTGAATGCTTTAACAATATTCAAGTTACCTCTTGAATGCTTTGCTGCTTAGAAACTTCTTCTGCCAGATACACTAAATCATCTCCCTCAAGTTCAACAGTTCACAAATCTCTAGGGTAGGGGCAAAATGCCACTAGTCTCTTTGCTAAAACATAAGAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTTTATCTGAGACCACCTCAGCCTGGATTTTATATCATTATTGACATTTTACTCAAAGCCATTAACAAGTCTCTAGGGAGTTCCAAACCTTCCCACACTTTCCTGTATTCTTCTGAGACCTCCAAACTGTTCCAGTCTCTGTCTGTTACAGAGTCCCAAAGTCACTTACACATTTTTGTGTATCGTTTTAGCAGCACTTCACTCCTGGTACCAATTTACCGTATTAGTCCATTTTCTTGCCGCTGATAAAGACATACCCAAGACTGGGAAATTTAGAAGAGAAAGAGATTTATTGGATTTACAGTTCCACGTGCCTGGGGAGGCCTCACAATTATGGCAGAAGGTAAAAGGCATGTCTCACAGGGCAGTAGACAGGAGAACAGAGCTTGTGCAGAGAACATCCCCTTTTTTAAACCATCAGATCTTGTGAGATTATTAACTACCCCGAGAACAGAACAGCATGGGAAAACCTGCCACCATGGTTCAATTATCTCCCATTGGGTCCCTCCCACAACATGTTGAAATTAAAATTGGGATTTGGGTGGGGACACAGCCAAACCACATCATTGGGGATGGAACTTTTTATTGTGAGTATGTCTGCACAAGTTACCTGTGTAGATTTTCTTGTCTGTGTGGCTGTGGGAATGTCTTAGTCAAACACCCCTATGCAAGTTTACTTATCTATGACTATAGTTTGATTTTTTAGGCTGTTCTTTTGTTTGAATGAATTCAACTGAGTACCCACCCTAACTGCCTGCCTGACTGGTTTGTTTATTTCTCCTCTCTCATTTTTACCCACGGGAGTGGAGAGCCTAACTGCTGTTAGCGAGGTGGGGTGATGCTCGCTACTTCCTGCTGGAAAGGGGCATTGTATGGGGAACAGCAGCTAGGGTTCCTTCTGTGAGCTTTCTAAGGGTCCTTGGAAGAAATTTGTGTCCATGCATGGTTTCATTTGCATCAACATTTGTAGTTTGATAGACTTTAGGCAAGAAAAAAAAATGGATTATTAGAGGACATGTATAAAAATGAAACAAGGGGATAGGTAATGAAAGCTCAAAAATCTCAAGGCTTCAGCCATGCCCAGATAAATAGTGGCTATAGTTATGCCTACTAAGATTTGGGTGCATGGGGCTTTGCTTTGGTGAACTTCCTTGGTTTTATTTTCCCAAACAAAGAAACCTCTGGGTTATGGGTACCCTGTATACTCCCATAACCTGGTAGGATTTGCAGGATAATAGCCCAAAACTAGAATATTGATTCAGATTTTTACACTACTTATTCCTTTTTTATTTTGAGTTGCAGCCAGAGATTGCTGGTTTGTTTACAGGAATAAGCAGAGTTATTCTAAAATGTACGTGATATGGTTTGGCTTTGTCCCCACCCAAGTCTCTTCTCGAATTGTAGCTCCCATAATTCCCATGTGTTGTGGGAGGGATCTGTGCGAGATAATTGAATCATGATGGGTGTTTTTCCCCATACTGTTCTCATGGTAGTGAATAAGTCTCAGGAGATCTGATGGTATTATAGGAGGAAATCCCTTTCATTTGGTTTTCATCCTCTTTCTTGTCTACTTCCAAGTTTTTGCCTTCCATCATGATTGTGAGGCCTCCCTAACCATGTGAAATTGTGAGTCCATTAAACATCCTTTTTAAAATAAATTACCCAGTGTCAGATGTGTCTTTGCTAGAAGCATGAGAACAGACTAATAGAGTAGGCAAAACTTAAAAACAACTAATGAGATTAGAATTTAATGACAAGTGTATGATAAGTTTTGAATCAAATTTTGCTCTCTCCAGTCCTCATTTTTGTTCAAAACAAATCATGATAGTCATTTTGTTAAAAACAAATTACGACTGAGTTGTTTGCAATGTAAACTTAGGCTCATACTTGGCTTGATTATTTGCATAATGTGCAGCAAAAATAATTATTTTTGCAGTCTTTTAAAATAAGCTTTGATGGAACTCTGTTCCACAAGAGATCTCAGATAGGACTTTTTTAAAGCCAAGCCCGGCCATGAGTTTGTACCCTCAAATACCTATGAGTTGAGTGAATTCCTCTCTTCTTAATGTCACAAGAATATGTGGTTCCTGGGACTGTTATATAGTGACATTCTTTACTCATCACAGATTAGAAACCCCGTACACAGATTATGTAGACAAGGTAGGAGGCCACATTTCCCAATGGGCTTTTATTGGCTCTGTAAGTGAAGCTTGATTCCTCAAAGAGAAGCATATCCATCCAATCAAAGCCTTGGTAAAACAACCAGTTTCTCCAATTGTGTCATGTTGCAAAAGAAAATGAATTCTTACTGCACTGGTGCAAACAACGATATTGCCATAAGTTTAGAATATTCCCAAATAGTTTCCAAATTCTGGAGTAACTTGGCAGAGAGAAACAAATACGCTCCAAATTTTGTTCACTGGTGTATACCTTACTTAATTCTTAAAAGCTGTAGATAGCTTAAAAGAAAGGTTTCCTTAACTCTGAAGAACAAAACAAAGAACAGCAATGTTTTAAGCAAAAAGTAAAAAAAGATTATTTCAGACTTCTATTAGTTTAGTTCATGCAGTTAACTCCTGTCTGATATTCATAAACAGTTAAGATCTTCATGACTCTTGTATGATTTCTTTTATTCTCATGTCATGATTTCCAAAGTTATCAGAAACCTGCATTTGAGAGCACATTGTAAAGTCCTACAGCTGATTGTAAAACATCTTTTGAAGAGGATTAAAACAAGACAACATTTATCTGTAGATGACATAGTGTTCAGGTTAGTTACAGTGAAAAACATGACTGGCAAAGATATTTGGTTATTTCTGTGGTTTGCAATAACTTAATACAATAATCCTAATTATGATCCATAGCATATTCTCAAGCATTAGAATTTTTAAAATCCCATACAATTTTGGAACATATATTAATATTATCACTAAAATATAACCTGAATAAGGTTAAACATAATTTTGTCAATCCCACTTACATGAACCTGTCAAAAAATTCTGTTTACTTCTCTTCTGGATGCTTCAGGGCCCTCTGTAGCATACAAAAGGTAGGGTTCAGGAGAGACAATTTTGAATGTGAAGTTTGATTTTGGGAAGCCTGTCAAATGTTACAGGTTTAAAACACTTGATAGTGTGAAATACAATTCCAGGTAACACATAAGTTATTTATTTTGGCAAAAGGATGACTCAGAAATTTTAAAACTAGGCAACATCCTTTACTCCTTAAGAGGGAGGACTTCGCTTTCCAAACAGTTTGTCTCCTGTCTACTCTTTTCTCTCTTTGGCAGTCTCCCAACAAGGCAAACAAAATATTTCATTATTCTTCTCTATTACATGAAAAATCTGTACAAGGGAAAGAAAGCCAAATTTTACCCTTACATTGGTTTCAAAATAATCCTTTTTCATTGGCAAGGTTTATATTTTATGCCTTTTTATAATCTTTTATGACAAACACATTTTACTGTTCTTACACACCTTGCAGGTAAATTTATTTTTAGTTGTCTTATTTACATGTTTTAATGGTAAATCTTACCAATTTTAACGTTAATATAAAACCTGGTAAGTTGTTTTAATTATGTACTAGATGCAGATAAAGTCTGATTTTTCCATCATATTTAGGGGCATGGTTAATTTCATATGTCCCCAGGCCTTACCAAGTTGTAAGGTAGGTAGCATACAACCTTGAAACATTTAGCAAACCTGGTATCTAACTTACATGATTTAAACTTTCTATTTACATTTTGATGACATTTGCATTGTACCAATTTCATCTTTAAAACAATTACTATTTCTTAGAGGTTAAAGTCCCATAAACTAAAAGGCATTAGAGTTTTAACTTTCCTCTAAAATATTTGATTTAAGTGCTTATTTTTATTTAAGGCAATCAATTAGAGCTCATTAGAGACATCACACACAACACATATATCACTACACAGGCAAACAGAAGAAGATCCAGTAGTTCTAAGATTTTTTTCTTGTCCCATTTCCTAATTGAATTATTAGCTTTCCAGTGGAGCCCTTTAAGAGCAAGGATAGAAAACCATGAAGTTTCTAGGGCCTAATCAACTTGTATAGCTGTAAGACAAAAGCAGATTTTGAGTGGAATCTATCTATGAGCCTCTAAATTCTGGTATTCCATGAGGAAAACAGAGGTTTCTCCCAAAATGGAACCCATCATGCCTTTTCTGTTTTTCCCAAGAAGTATCAGGCCAGCAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAAAACAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAACACAAAAGTTCTTTTCAAGAAAAACACAATCCAAGAAGAGAAAAACATAAAGGCCTTTTAAATATACCTATAACATGAATATCCACTTTTAATCAAGCTGAGCATTCTTTAAGAAAATCATTTGAAATATGCTGTTACCTGACTTTAGCTAAATCAAGCAGGTAATATTTCTGGCTTTTGACTTTACCAAAAGTAATATCAAAGGTGAAACAACAACTCTCAATTAGGTTATAAGTTAACCACGAGTATACAAGATATCTTATAAGTGGTGGTAAGCAGCTTTTACCAGATCTAGAACCTTTAAAGTCAATTCAGAGAAAAGAAGATTTCAGAAAGGAAGTTAGAGTTGTTCATGGAGGAGGAAGAGAAGATTAAAAGTCACACAGCTATTAACTTGTAAGTATTCATTACCCAAACCAGGAGCGAACCCGGGCCACCATTATAAAAAGGCAATGGCTAAAAAGAAGTACTGCCACATTGTTACAGGTTATGGTCAAGGACATAAAACAAGATGGAGACTTGCAGCAAAGTTTGTTACTAACCAGTTTACAGGGGTGACTTGAACAGTGAGCTTACGGAGTCCCAGGCCTGGATTCCGTTCCAAGGTACCCTCTCTCTGATTGTTTCTTGTATTTTCTCTCCTTTTTCTGAGACTCCTCCTAGTACCTGTTATGAAAGACTGGGGTGGCTACTCTTAGAAGGTTTTTTAAGGTGCCATCTGGTTCTATAGCCTGTTTCTGTAGCTTCCTTCAAATATCAGGAGCTGCTTGAGTAAACCTGTCTTTCAAGATGAGCTGTCCCTCAATTGAATTACGAGATAGGGAAGCATGTTTTGCCAAAGTCTCTCTCAGCCTTTATAAAAAGGCTGAGGGATTTTCATCTGGGTTTTGATCTATCATGGATAGCTTAGAGTAGTTAACAGGTTTGGCTCTGGTCCCCTGTAAGACTTCTACCGTATACATCTGAAAGTGTTTCTATTTTTCAATCATCTATGGGCTTAGTAGGGTTCCAATTAGAGTTTTCAAGGGATACTGCCTCTTTTCCTACTGGGAATGGGGATTCTGCCTGTTTCTCACCCTCTTTCCCTTTTTGACTGGCTATAGGAAACATGCTGCTCATCTCTGATTTTTTCTGCTACCTGTAGGGCTGCCTGTCTCTCAACAGCAGTTAGGGTTTCAGAGTAACATAACATCCTTCTAGGAGAGTTTAAATACTTGGGTTATATCCTGGAAGGCCTCTATACATGAGAGAAGTTGGCACTTGCCCAGAGCGAACTTCAGGCTCTGAAGTCTAAAGAATAACTCAAGGGGAATGCAGGCTTGAAGATGGGGTGTTACCCATGCATAAAAAGAGGGGAGTAGAAGGTGTCCCTTAGTCTCCTTTCAACTTTTGAAGTGACCCAGGTTGAAGAGAAAGATTACAGGGGTGTCCCTCTTCTCTTTCCTCCCATCTCCTTTGGGTCCTGGCAACCATCATAGGTGCAGCCCATGGATGCAAGCATGAATTGCACCCATGTATCTGGAGGTGCTAGTTGGCAGGGGTAGTCATGCTTACCAGCACAATGCCTCATCTCACTGCCCTTCTGGGTTCCTAGGCCTCCCAGGAGATTGTACAGTAGATAAAGTTGGGTGAGACACTTTAACAGAGGGAGTGTTTTAACCCTATTCCTGCTTCCTCTAGCTATGGCCCTGGAAAAGCAGTGCATTCCCAGAAAATTTTACCCATTGCCTTTTAAACACAAAATCCCCTTTCTGATTAAATGCCAATGTTGTTGGAAGCAGAACAGGTGCCTCAAAAGAACATATGGATTTAATGGCTGTCCTCCTTCTGATGGGAACAGCACTGAGGCTAGAATTTGTCTCTCAAGGGTGGCTTCCTCCCAACTGTTGAATGCGGAGTTTTTTTCCCTACAAATGGGGCATAGAGTCTGCTTGCTGACAGAGGAACACAAAAGTGGAAGAAATCTGGGTATTAGAGGTTTTTGGCAAAGGGCCAACAAGACTCTATGCAGAAAAAAATCCTATCTCATGAGGTGGTGCTGTAGGTTTTGAAAATTTAGGTAAAATCTGTGACTCTAAATTTCTTCCAGGCAGAAGCTAGAAAGAGAGGTTTGAGGTTTAACAGACTGTCACTATATATGCCTCCCAGCTGTAGAAAATTAACTTGTCTCATTAATAAACTGTTCAAATTCATTTAGCAGTGGTGAGCTTTTACATGAAGGAAAAGCAACTAAAATGGAGAGGGATGAGGGTATTCACTCGGGATGAAATATCTTTTCATAGAGTACCATGAATGACTGTTATTGTGGGACAAAAAGCACTTACTGGGTGAAGGTTTAGACTGAAATCTTGAAATCCCCTGGTATTTTGAGTTTCTGCTTAGCCTTTCCAAAGGAATAAAATCAGATATGTATCTATCTCAGTGAGCAGAGGAGTGACTTTGAGTAGAATGGGAGGAAGGTTTGTCCTAGGCAGTTTCCCGCTTGAATTTTCCCTAGTGATTTCAGGGGCCCAGTATATTGTCCTTTCACACATCTGACAAGTAATTGATAACCAGAATATCTAAGCAGCTCAAACAATTCTAGAGGAAACATATCTAATAGTTGGATCAAAAAGTGGGCAAAAGATTTAAATAGACATTTCTCAAAAGCAGACAGACATATGGCAAACAAGCAAATGAAAATGTGCTCAACATCATCGATCAGAGAAATACAAATAATAACTACAATGAGATATTATCTCACCCCAGTTAAAATGGCTTTTATATAAAGACAGGCAATAAGGATTGCTGGTGAGGATGTGGAGTAAAGTGAACCATCATACACTTTTTATGGTTATGTAAATTAGTACAGCTGCTATGGAAAACAGTTTGGAGGTTCATCAAAAAACTAAAAATAGAGCTATGATGTGATCCAGCAATCTCACAGCTAGGTATATACCCAAAAGTAAGAAAATCAGTATATTGAAATGATATCTGCACTCCCATGTTTATTCCAGCCCTGTTCACAATAGCTAAGACTTGGAAACAACCTAAATATCCATCAACAGATGAATGGATAAAGAAAATGTGGTACATACATACAATGGAGTACTATTCAGCTATAAAAAAAAATGAGATCCTGTCATTTGCAACAACATAGATGGAACTGTACATTATTATGTGAAGTAAAATAAGCCAGGCCCAGAAAGACAAACATCACATGTTCTCATTTATTTGTGGGAGCTAGAAATACAAACAGTGGAACTCATGGTCATAAAGAGTAGAAAGATGGTTACTAGAGGCTGAGAAGGGTGGATGGGAAGCAAGTGGGAATGTTCAATGGGTATAGAAAACAGAAGAATGAAAAAGACCTAGTATTTGACAGCACAACAGGGTGACTATAGTCAATAACAACTTAATTGTGCATTTTAAAATAAATAAAAGAATATAATTGGATTGTAACATAAAGGATAAATGCTTGTGGTGATGGATAACCCATTTACCCTAATGTTATTATTACACATTGTCTGCCTGTATCAAAATATGACACATGCCCTGTAAGTTTATACACCTGCAATGTACCAACAACAATTAAAAATTTAAAAAGGTGTATCCTTCCCAGTGAACCAAAATATTTTACATTGATAACTTTTAAGTTATCATAGTGTGTTGGAATAATCACAGCTTTGGAAAGAAAAAAATTATAGATATAAACTTTCAAAGATGGCAGGAGATATAGATCTCTCTTTAGTGGATTAAAATATGCCATTTGTTATTAACATCACACTGAGATTTTTTAACACAGGACATCTTCTGGAAATGATATGATTATAGGAGTTATAGGAAAAAGCGTTTTTTCATACTGTGATTACCTATGCTATGAAGAAAGGAGATATTTCCTCTATGATGTCTAATTTAGCATAATTATTGTTTTTAAACTATATTTAGATTTAATTAAGAGATACACAAACAAATTACTTTTAGTAGTAAGAAGATTTTTAAAAATTTTTTGTGTAAGATGACTATGTAGTAAAGAAGGTTACAAACTTACTTTTTAACGTAGAAAAATAATCTCACCTTCTTGCCCCATGGAAAATTGAAATGTTATGTGGAACCCAGTGTAGAAAAACTCTCAGTGAGGTTTTCTGTCTTAAGTTTCAGTGGATTGAGGTGAGATCAACGCCTGTTCCACCTTTTTCCTCCCTGTCCTAGCAGGCTTGAAAACATTTATACAGCCATAAAATGTTGCCTTTAAATTCAAGTATAGAAAATAAAATTTAAAATGTGATATTTTTATATATTTTATTTTAATATCTTACATGGGAAATGTTTTTGAAATGTTAAAAAATTAAAATTTTTAAAAGAGTACTGTGAAATAATCTAATCACATGTGGAAATTTTGTTACTATTTCCCCAAGCATTTTTGGTACATTTAATGAGTTGAATGTAACTCATAAGTAGATAAAAATGTTTAATATTTAATTTTCTGCTGCAATAATGTTACAAAACAACCTTAAATTCTCAGTAACGTTAAACAACATATTTTTTTCTCCCAAATTTCCAGGTTATTTAAGGGCAGTTCTGCTTCATATTGCAGTTTGCCTGGGCTTTACTCCAGGCTGTGTGTTGGAGTTAGGTCTAATATATTGTATCCCTACGTATCCCAGTTAGAAAGCCTAACAGATTTCTTTGTACTTCAGTCAGCTCGATTGTATTTGTCATTCAAAAGCCAAAGCATTTATCCTAACACCAATTGCTTCTTTTTTTTTTTTAGATGGAGTTTCACTCTTGTTGCCCAGGCTGTGGTGCAATGGCACGATCCTGGCTCACTGCAATTTCCGCTTCCCGGGTTCAAGGGATCCTGAGATGGGGTTTCTTCGTGTTAATCAGGCTGGTCTCAAACTCTCGACCTCAGTTGATACGTCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCCAGCCTAACTGACTGCTTCTTTTGTTCTGTAGTCTTTCTCCAAAACTGTTTTTCTCTGTACTCACTTTCACCTTCTCTCACACATATATGTCCCTCATGTCCCTTTATGTCTCCAGGGTCTTCTATTTCCACGTAATCTTAATTGTTCATCATATCCTGGACTCATGAGTAATTAATCTGTTATTCTCCCTGAAAGTGCAGCCTTGTTGAATAGAATGTGTTCTTTAAAGAGCAGCTTTGTTTCTCGAGTGAGGTATTAACTTCCAGATTTAAGTGAAAATGAGTTCCAAGTTTTATGTTTCATTGTGTGTCTAAGACTGACACCGTTTATTACTGTGGCACTTACAGCTTGCTTTCAATGCCTCCAAATTCTCTATCTGAAGGGCTGGGTACCATATCTCATGTCTGAACATATTCCTCAGAATCATGCAGTACCAGCTATGTTCCTTCTTTATATTATGGCTCCTGAGGTGCCTGTTAAGCAGCCAGGTGAAATTGCCTTTTAATCAGTATAGGAACAGTCTCTTTCCTGCTGATGCTAATGCTTTTTGTAAAAAGGTCATGCTGTATTGAAGTTCTTCTTTCACGGCAAAACCACTAATGGAACTCATCTACTTACTGATGGGTGGAAGCTCTTTGTATGCCAAAGTCTTGTTTTGTTTGTGAAGAATCTCTTTCCCTCAACAGTGATGTGCTACGTTAGGTCTCAAATCATTGTTGCTTTTTAATCCAAATTTATGACAAAGATTTTCAGTTTGTATGCATAATTTCCTTCTCTGGCCTTAACCATCAGTCTGTGGACTTGCCAAGCAACAACCACAAGAACAACAAGTCTGAGGTCAAGAGACACTATTTAGATCTCAGAATCATTTGTTGTCCTTTATCCTTTGACAAAGTTTTGCCTTTCTTTCTTTATGAGATTTTTTCCCTAATGGTTTCTCAATCTCTTGAGAAGAAGAAAGTTCTTGACTCTTGCAGTCTTTCTCATTAGTTGAATTATACCATCAGTACAGCTTCTGATCATGTCGAGAAATCCACCATGAAGAAATAAAACATTTCCGATTACATGGATTACGTTTCTTGGATTCTTATAGGCATTAAACTTCATTCTAGGATACAACCTCATGATCTTGTCTTATTCTCAGAACAAGAAATATATTACTATATACATTACAATATATATATATTGCAGTTTCCTTGCTATATATATATATATATGTATGTATTATAGTAAACCCTGTAGGCAAGCAGGAACACTTCAGAAGTCTCAATGAATCCATCATTAGCTGTTAGTAATGACAACACTGTTAGAATTATTTCAATAATCACACATTGTTATGGTCTGAATGTGCACCCCCAAATGTAATATGTTGAAATTTTAACACCTGAGGGCATAGTATTAGGAACTTGGGAGTGGAACTCTTTTTAGTGCTATTATGAATAAGATGCTTGCCTTTTCCAGCAAATGAGGACACAGCCACAAGCTGCCCTCTAGGAACTATGAAGTTAGTCTTCACCAGACACAAAATCTGCTTGATTTTGAATTTAGCCTCCCGAACTGTGGAAAATAAATTTCTGCTTTTATAAGCCACTCAATTTATGGTATTTGGTTATTGTATCCCAAACAGACTAAAACACACATTATTTACCTCCTTTTTGGACTGTCTGGGGTTGTTGCTTTAAACTTGCTTCAGTGCCTAGAACTGCTCCAAGCTCCCTGTCCTCTGGCACACACGTATAAATAATTCTGCTGGAAACCGACATGTTTCACTCAGTCATCCAAATGTATTTATAATGTTGTCCAAATATATAGCACTTGTTACAATGTTTACATTTTAGACATATTTTGAGATATGTGCCTTAACAGAGTGCTGTGATTATTATTAATATTTAGTAACTTATCTTACCAGACCTAAACTCAAAGTTTTTCACAATGGCAATGCCTTATTTGGGACTTATTTGGGACTGAATGTATGAAGATCTTACATTGAGTCCAAATTGATTTCTCTGTTAGTCTCGCAATAACATTAAAGCCACAGAATTATCTGCTGTATATTTCTTGTCTTGTTGTAGCTGATATTCTACATATTAGGACAATTAGGACATTAGTAATATCTATTAACCTTAGAATAAAATGTCATATTGAAATTGAAGAGGAATATTGGAACTTTGCTAAGAAAGAATGCTTTTCACACACAATGATATCTAAAATGGAGCCTCTGTTCCTGGAGGTATATTTTACAAAAATTCAGTGTTACTATAGGAATTCTGTACACTTCTTTCTTAGACATTTGTATTCCATCAGTGTCAGTCCTCTCTGTATTTTAAACTAAATAGGATTTCTTTTTCCATCTTTCTGTTTGACAAGTATTGTTTTGCTGAAAATTTGCTATTCATGTTCTTTTAACTCATTAGAAAGAATATTTAGGGTCTTTAGTGACAAATGACATGGTATAAATGAAAAGAAAACACTGACATTGTAATTGAGAAATACTAATTAATTAGGAGAATATTATTTAAAAACATTGTTTAAATATTTCTTTGTTTTATTATTATTATACTTTAAGTTTTAGGTTACATGTGCACAATGTGCAGGTTAGTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATCTCCTAATGCTAAACCCTCCCCCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAATATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTACTGAGAATGATGATTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTATATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTACCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGAGTACATAGCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGATGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCCTACAATGAACTCAAACAAATTTACAAGAAATAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAAACATTGTTTAAATATTTCTATCACAAATTGACAGCAGTACAATGCACACCACCAGCAATGTATAATTCTAGATATGAGAGGTAAAAAGATAAAACAGGTATTGCATTTTCTCCAGAAAACTTATCATTTAGTGGAAACTGGCCAATAATTTCTTAGGCCTTAGGATAATTTTACCTTTGATTCTCTAGTTAATCCAAAATATATAAAAATATTAACCAAAAGTATATATTTTTAAAATGCCTACATAATCTAATGCAGTATTTTTTGCTCTCTTCTTGAAGTGAATTAAATTCCTTATCACTGACCATAAAATTGAACTCCATTGATGATTCTTATTTAAAATAGTTAAAAGTGAATGTAAAGATCAGTTGTGGTTTTCCTTTTCTTACCCTTGTTTTTACACTTATATTTGCCTGTGTCATTCACACACTTTTAGAATTCAAAACAATAACTAGAAATGTAATCATTTGCTTTTCAAAAGCTTTTCGCATCTTTCCAAAGTTAATATAAAGTCTTACAAAACTTTTAGCTAATTCACAAAAAAATCAAACATATATAGTTGAAGCAATTTTTTTTTTTTGGTAGATTTCTTCAAACCACAGAAATTTCAGTTATGGCATGGTAGGTCTTTTGAAATGTTTCATTTTTTGTATTTGAAGATGCAGAGCAAAAGTATTTCCACTCCAACTCCCCTTTAATAAAAATTGAATGTAACAAAAAAATCAAAATCTATAGGAAAATAACCCCTTCATCTATGTTAAAACTATGAGATTTCCAGCCCAAATAAGTTATAAGAACCAGTATAGAGTCCAGGCTCGGTGGCTCACGTCTGTAATCCCGGCACTTTCGGAGGCTGAGGCCGGAGGATCATGAGTTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCCCATACCTGGGAGGCGGAGTTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGAGATAGAGTGACACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACCAGTATAGAAATACTAATACAGTAAAAGGTGGACTTATATATAAAGAAAATAACCAACAGATTTTGTCTATGGCACAAACTTCTTAGAAATTTTGAGGTCTTTAGCCTTAAAGACCTAATCAAATATTTATTACTTTGAACAGTGAGCTACTGGGATATGCTGGGCTTTGAGCCTATGTACAAATCTAATTTTAGAAGTCAGGACGTGTTGTAAGCAATAGCAAAGAATATGCTAGATGATCAGCTTGGCAATTGTTGAACAAACTTCATTCAGCAGTGTGAGGACGTAATTAAAGCAGTTGACCTTCAATCTATTCACTCTCTTTATTGGCAAATGGCCGAGGAATAAGACTAGAAGGAAGATGAACTGGTTTAGTCTCTTTGTCAGCTGAACTTGTGGTGAAAGAGACTACTGATATTTTCTAGGATGAAGAGATCTTATCTCTGAAATACCCTTTGCAGGTTGCTCCTGACTGAAACAAATTCACAGATTCTTTCTTCTCGCTCAATTTTGCTGTTGATTCTTCATTTTACATTCTTTATTTCATTTATTTTATGCTTTAGCTCTAGAATTTTAGTTTGGGTTCTATTTTTTCAATCTGTCTGTGGAACTTCTCAATTGGTTTGTGTTTTGTTTTTTTTCAAGTTTTGGTTGAATTGCCTATTTATTCTCTTGTAACTAATTACTCTCCTTTAAAACAATTATTTGACATGAAAAACCTTGCAAAAATACAAAAATCTATAAACTTCTTGACAAAGAATTCAAAATAATTATTTTAAAGAATTTCTGAATTTGCAGCAAAAGTTTGCTATAGAGCAACATGAAAGCACAGAAAAGTATGAAACTCATTGATTAAGGTAAATATATAAAAAATACAGAACACTCTAATAGTGTAGTAGTGGTGTGTAAATCAGTTTTATTGCTAGTATGAAGCTTAAAATCCAAAATAATAATAATTATAGCTACAATAATTTGTTAATAGATATAGAATATTAAAAATATATAATGTGACACCAAATATATAAAATATAGTGGGCTGAGTAAAAGTATAGAGTTTTGAATATGATCAAACCTCAGTTTAAAATAGTTTGCTCCAACTACAAGATAGTATGTATAAGCTTCATGCTATTCGGAAAGCAAAAACCTATAGTAGATACCCAAAAGACAAAGAGAAATCAAAGCATGTCACTACAGAAAATCATAAAATCTCAAAGAACGACAGCAAGGGAGAAATAAAGGAACAAAAATATGTTAAAAGGCTGAAAAGCAATGAACAAAATGTCAATTGTATGTTCTTATCTATCAATAATTACCTTGAAGATAAATTCATTCTATTCTACATTCAAAAGCCAGAGTGGCTGAATGGATTACAAAAGGAGACCCAACAATATACTGCCTACAAGAGACTCACTTCAGCTTCAAGGACACATATGGTGTGAATTTAGGGGATGAGAAAATTTGATATTCCATGCAAATTAAAACAAAAAAACAACATGGATAACTATCCTTATATCAGGCAAAATATACCTTAAGATAAAACTCTAACAGGTGATAAAGATGGTCACTATATAATGATAAAGGGATGAGTTGATTAAAGGGATGAAACAATTATAAATAAATATGCACTTAACATTAGAGCACTTGAAAATGTAAAGCAAACATTAATATCTGGAGGGAGAGATACAGAGCAATCAATAATACTACAGATATAGGTAACCTTATTGACACTGTTGAAATTATCAATACTCCAATTACAACAATGGATAGATCATTTAGACAGACAATCTGTAAGGAAAAAAAAATTAGACTTGATCTGCACTTTAGACCAAACGGACCTAACAGATGTATGTTCACATTTCATCCACAGCCGGAGAACAGGTGTTCTTTTCAAGCTAACAAGAAACATCCTCTAAAATAGAGCATACTTGAAGTCACAAAATGTCTTAATACATTTAAGAAGATTGAAATTTTATCAAGTATCTCTTTTGACCACAATGGTATACAACTAGAAATCAATTAACAGGAGGAAAACTGGAAAATTCAAAAAGAAGTGAACATAACACAATTCTTAAAAACTGGTGGTTTAAAAAGGAAATAAAAAGGAAAATAAAGAAATCTTGATACAAAAATGAAAACACAATACACCAAAGCTTGTGGGATGCAGTAAGACAGTGCTAAGATGAAAATTTGAAATGACAAACACCTACATTAAAAAAAACACAAATATTTCAAATAAACAATCTATCATTAAACCTCAAGGAACTAGAAAAAAAGAAGAGCAAACTAAGCCCAAAGTTAATAGAAGAAAGAAAATAAGAAAGATCAAAGCAAAATAGAGAAATAGAGAGTAGAAAAGTAATAGAAATTGAAAGACATTCTGTGTTCATCAATGTGAGAAATTAATATTGTCAAAATGCTATTACACAAAGCAATCTACAGATTCAATGTAATCCCTATCAAAAGTCCAATGGCATTTTTCCAGAAACAGAAATAAATCCTAAAATTTGTATGAAATTACAAAAGACTATAATTACCCAAACTGATCTTGAGCAAGACGAACAAAGTAGGAGGTACCACACTTCTCACTTTCAAGTTATATTACTAAACTACAGTAATATATATATATATATATGATACTGGTATGAAAACAGTCACATAGAAGAATGGAGCAGAATAGAAAGCCTACACCAATATCGTCAAAGAATCTTCAATAACATGCCCAAAACACCTAATGGAGACAGGATAGTCTCTTCAATAAATAGCGTTGGAATTATTGGAGGCCCACATGCAAAAGAATGAAATTGGAGTGTTATGCTATGCACAGGAATAAATTGAAAATTGAAAAGGAATTTAAACATAACATCTGAAACCAAAGAATCCCTAGAAGAAAACAGGGGAAATCCTCCATAACATTGACCTTGGCATGATATTTTGGCTATGAATCCCAATGTATAGACAAGATAAACAAAAATAAACACATACAACTACATCAAACTAAAAGATTGTGGCACAGTAAATAAATAAATAAATAAATAAATAAATAAAAAGTCACCCATGGAATGGTAGAATGTACTTGAAAACAATATATCTGATAATGCATTAATATCTAAAACATATAAGAAACTCATAATCAGAAAAAAAGTAACCTGATTAAAACATGAGCAAGAGACCTGAATAGACATTTTTTCAAAGGAAGATTTACACACGGCCAACACATGAATGAAGAGGTGCACAAAATCACTAAACATGAGGGAAATATAAACTGGAATCAAAATGAGATGTCACATTACATCTTTCAAAATAGCTAATATCAAAAAGGCAAAAGATAAATAGTGTTGACAAGAATGTGTCGAAAAGAGAACCCTTATAGAGTTTTGGTGGGAATGTAAATTGGTACAACCATTATGGAATACAGCATGGACACTCCTCAAATAATTAAAGATGTACCGTATGTTACAGAAATTATACTTTTAGGCATAAAAGTATATACCTGTGGGTGTGTTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTGAGGGAGGCAGATTACCTGAGGTCAGGAGTTCACGACCAGAGTCGCCAACATGGCAAAACCGCATCTCTACTAAAAAACACAGAAATTAGCCCAGCGTGGTGGTTGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCAGGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGCCATGAGTCAAGATTGCATCACTGCACTCCAGCATGGGCATCAGAGTGAGACTCCATCTCAAAAAAAGGGTATATACCTTTTATATACTTTTCCTTTTATATACGATAGAAATAAAATCACTATCTTGAAGAGATATCTGCATTCCTGTGTTCATTGCAGCTTTATTCACAAAAACCAAAATATGGAAACAATCTAAGTGTTGACAGATGAGTAGGTATGTAAATTATGATATCTATCATCTATCTGTCTATTTATCTATCTATCTATCTACAACGGAATATTATTCCGTATTTAAAAGAATGAAATTCTGCCATTTCCAACAAAATGAACGAGCCTAGAGGATATTATGCCAAGTGAAATAAGCCAGGCAGAGAATGAAAAATACTACAGGTACAACAATGAAAACTTGCCATTATAAGATGAATAAGTTATGGAGGTCTAATGCACAACAGGGTAAAAATAGTTAGTAATAATGTATGCTTTAAGTTCACTGAGTGTAGATCTTAACTATTACCCTTTCCCAACACATGATAACTATGTGAAGACATGAATATGTTAATTAGCTTGATTGTGAAAGTCCTTTTAAAATATACTTGATGGGCGCAGGGTGAGAGGAGAGTGAGGGTCAAAACACTACCTGCTGGGGACTATGCTCACTAGCTGGGTGATGAAATCATTTGTACACCAAACCCCAGCAACATGCAATTACCCACGTAACAAACCTGCCCATGTACCTCCTGAACCTAAAATAGAAGTTGAGAAAAGAAAAAAAAAGATATCAATTTCCTATAAGGAGCTCCAGGTTTGTTCCAAACAGTAGCGAGACAAACAGATCAAGGATGAAATATATAAAATAGTAGGCAAAACGTAAACAACATGTGTAAGGCAATCGATTCTATATAACTCAGCAACTCCTAGGGTTCTTATCAAATAAAATCACTGATGTGTCATAACTTCTAAACTAAAAACAACACAAATGCCCATTCACAGTAGAATGAATAAATAAATTACTTTTGCTTCCCGCGATGAATACCACACAGCAATTAAACAATGAACTGCTGCTACACAAAACATAGATGATTCTCACAAATTTCAACTGAGTGAAACAAGTCAGACTCAAAAGATTACATACAGCAAGTTTCCATTTATATGAAATTGAGGAGTAGGGAAATCCATCGTGATAGATTTCATGATAATGATGACCATTGGTGAGTAACTGGTTGAGAAAGTGCGAGAGCCAGGGGTGTGGGAGCTGGAAATCGTCCATATCTTGCTTGATTTGGGTGGTGGTGATAGGGATATATACACTTATAAAAATTATAATGCTATATGCTTAAGATTTATGTATTTTACTATTTGTAAGATATATATTAGTTGAAAAAATGCTTCAGTGTAAAGGAAACCAGTAAAAATACGCTACCTACAATTGTAGCTTTTGTTTATCAAAAAAGCATTTGAGTAGTCTATTGATTGGTAATTAGCAAGTTTATGTTAAGCAGCCTTGTCCTGAATACTTTTTAGTATGTACCATTAAGCATTTGCCTTTCTCAACTAGGGCTAATTAAAAAAAACTCAAAACCTCACATTGTACACGTTGAATATATATAATTTTAATTTGTGAATTATACCACCATAAAACTAAAAATCTAATTAAGTTGAGTTTGAATACATTTTAGGGAAAATACGATAAAGAAAATTAGGAGCTTAAGAATATGCATAGATAAAAAATAAACTTGATAGAAATATTATTTATATATTATATATTATGTATATTTATATATATTTATATATAATATATAAATAATAATATATATATAAATAATACTATATGTATTTCAGAAAATCATATAAAAAGCTGTGCTAAAATTTTCCAGAGAGAGAGTAAATAGTTCTCCTGTAGTGGATTAAAATGAGATTAGCATTGGAGTACTAGCGTAATACAACAGATAGAGTCTGAAGTCAGATCTCAAAAATACAATATATTTGCTAAGTAATGCGAGACAAGCTATTTAAAGTTTTTGGACCTAAATATCCAGTCTGTAAGTTTGTTGGAAAAAATAAATACGCTAATAGAGAACTTAACTTACAGGGAGTGCTAAATTATTACCTGTTACTGGAAAACATAATATCAGTGACATTAAAAGCTTGAGTGTTGTAGAACAATATTTTGAAATATCATTTTTTGAAGTTATATACATATTTATATTACTTTAATAATTTGCACAACATAGGAAGGAAAGCTTGCTTTGCACAGGCAACATTTTTGCCAAATAATCTTTAAATCATCATGAATTCTCAATTAGATTAACAATAATAAAATTTTATTGTAGAAGACTATTTTTTCATTAATATAGTTGTACATGCACATAGGGTAAATGTAATATTTTGTTACTTGCCTAAGCTTTATAATGATCAAATCAAAGTAACCAGGGTGTCCATAATCTCAAGTATTATTTCCATATGTTAAGAACATTTCAAGTCCTTTAGCTATTTTGGAATATACAATACATTGCTGTTTATATGTAGTCACCTTACTCTGCTATGAAATATTAGAACATATGTCTTCCAAGTAATTGTATGTTTGGACCTATTAACAAACTTTTCTTTATTCCTCCCACCCAGAGAAACTTTCCAGCCTCTGGTATCTATCTATAATTCTATTCTCTACCTCCATGAGATCAATATTTTTAGTTTTCATGTAAGAATAAGGATATGTGATACTTGTTTTTCTGTGCCTGGCTTATTTCACCCAACACAATGACTTCCAGTTCCATCCATCTTGCTGTAAATGATAAAATCTCATTCTTTTTTATGGACAAAAAGTATTCTACTGTGTATATATATACCATGTTGTTTTTATTCATTCATCCATTGATGGACAGAGGTTGATTTCATATCTTTGCTATTGTGAATATTGCAATAAATATGAGAGTGTGGTTATCTCTTTGATATACTCATTTATTTACCTTTGGACAAATAGCTAGTAATAAATAGCTTGCACCTCTGGTCTCAGCTACTTGGGAGACTAAAGCAAGGGGATCACTTGAGCCCCCGAGGTTGAGGTTGCAGTGAGCCATGATCACTCCACTGCATTCTAGCTTGGTTGACAGAGTGAGAACCTCTCCCTCCTAAAAAAATCCTTAAGAAATGTGTTGATGCCTGGTTCCCTTGGTCAGAATTTTCATTTGATGTGTTGAGAGTGTAGCACAGATGTTGGAATGAACCTCTCAAGCTGATTTTAATGTGCAACCAAGTTTGAGAACCACCAAGGAAGAGTTTTTATGAATTAAGATTCCTATACTCTATCCTAGAACTAATACAACTGAATCTCTGGGAATGGAGTATCAGAATCAGATTTGAAAAGGTTTCCTTAGTAATTCTAAGGACTGAGCAGTTTGGATACTCGTTTGTTAGAGTAAAATGGTTAGGTACCTAGTATCAACATAGGCACCCAACCTGATATTAATAACTAGGAAAATAAAGGGTTGGCGCCTCTGTGTTTCTTTGTTGAAAAATCTGATACTATTCTTAGTTCTATGAAAACAATTGAAAATTTGGTTATTATCACCTTAAAAGTACAAAACCTATAGATATTGAAAATGTAATTATTTTTCTATAGGCATAGTTGAAATGATTTTGTAAATGTTATAAATCAGTTTCTTTATAAGCAGTTCATTTACATAAATTTTGTTAAACTGACATGATTCACTAATTTTCTAAATATAAATGGTTCAGCTCTCAGTTATTTTTAAACTAATGACCTGTGTTATACTTACTATTTTTAATGGGCTTTTATGATGTTTTTAGGTTTCTTTGGATTCCCATGTCCTTCAAGTGCTTTGCAACTTTGAGAAGAAGAAATTGACCACCTGGACTATGGAACTGTGCATAACAGCTTTGAAAGTGTATTTAAAAATTAAATCCATACGCCTTTAAATCAGTAAATTGGAAATATATTACATGTATTGTAATGACTTTCCTCAGATATAATAAATTGTTTTCTTTCCAATGGAATAGTGTTTGCATTTTTTGTTTACCTGGTTTAAGATGTGCAGCAGAACATAACTAGATGATTACATAATTTCTTTTTAAGGCAATTTTATAATATATTTTATTTATGATTATAAAAACTGCCTTTAAAAATTCTTACATGGATATCAATGCAGTTTCACTTTTTTTATTGTAATCTTTTTTATAATTATTTTATACTTGTCTGGCATTGAGTTTTATTGGGCTTTTGGTTTTTTGGAAGTAGGGTATTTATCCCAATTTAGAAAATTTGTATCCTTGCCATAATACAGTCTTCCATTTTTGTACCCCCAAATCTTTCATCTGTCAGAACATCACTCAAAGGTGAAAATATTTCCCACATAAAATTATTCTGTTCCTTTAATGAAATGAGTTTCAGCTGTATATAAGTAGGAAAACTTCCTTTTGTTCTATTTGATTCCTTTTTACGGATACTTTCTTGAGGCTGTGATTACACCTTTACCTTAGAGGCACTGCCCAAAAAGACTCAGCTCTTCTGTAAAAATGCTGTTATGAATCATAGCTTCTTAACTTTTACAACATAGTGAGGTAGGGAAAGTAAGAACACTAGAGATAGGAATTAGAAGCATGGAGAAGTGAACCCTGGAGCTTCCCAATGGTGAGATACCAAATAGTTCAAGAACTAGTAAAGAAGACTACGGAGGAATAGCTAGAAGCTAAATGAAGAAAGTATCTCAAACAGGAAGGAGTGATCTGTTAATGTGTTAGGAAAGTTGAGTTCTTAGGATTAAGCATTGGGTAGAGCAAGATTTGGGACCTTGACTTTGACGAACTTGGTGGATGTCAGGAGTAAGAGGAGGTATTCAAGAGAATGTTGGAGAGGAATTTAATATAGTGAGTATTGAGGACAACACTTAAGGAGTCTTGCTTTCAAGGGGATGTGAGAAATGGGTTGTTAATGGAGGGTAATGTAGTATCAAAAAGCTGTTTATTTTGAGATCGATGATATAGTAGGTTTGTATGCTAATGGGACTGATTCAGTAGACAGAAAAAGCATAATGCAGGAAACAGAGGGATATTGCTGAAGCCATAGACCTGGGACACAAATAGAAGGGTTAGTTTTAAAGATAGGCCCACAAACAGCTCATTAGTAACAGCAGGATGAAGGGCAGATTATGGAGTTCCAGATGTTTGTAGTCCAGTAGATAGGAGGAGCATGTCAAATTTTTGTGATATTTTCTCAGTGAAACAGGAAGCAAGCTCATAAAGAGGGAGGAAGTCACGAAGGAGTAAGGAAGGAAAAGGAGATGTAAAATGAATAGATAGGAGTGTAGGAAAGTAAGCATACTCTTAGGAAATCTGTGGTTTATTTAAGTGGTATCAGTCAATGTGGTTCTGTGTTTTTCTCCAGTTGAGTTCAGCATAGGTGCTATCACTGAAAAAGTACAGAATTCAGTTTAACTAAAGGTGAGATTTCTCTAGGTGAATAAAACAGTCAGTGATGAGATGTTGATACATTTAAGAGAATGATTATAAAAGAGGGATGTGGAAAGTAGTCTGGGTTAAGTAGTGAAGTGAGAAAATAAAGAAGGTTGAGACAGTGGAAAATGGAATGATCAATTGTAGATTGCAGTGTGGTTGAAGATGCAATGGACTTCTTGAGGTGGGAACTAGAAATTTGGGGGATATAAATAAGAGAGGGGTGACTGAAATTGAAAATATGAGAGTATAATAGTATACAATATTACTAAGTATGGTATACTAAGTATAGTAGAATAGTACTAAGTATAGTAGAATAGTACTAAGTATATAGTACTTAGTGAGTATAAGTTTTAGGATGTGAAGAGGGGAGTAGCGTAGAGGCAAGGTGATGGAAGCAGATGAGTTCAAGAAAATGAGAACCTAGGAGATTGAAACCATTATCTAAATGAATTCTGAAATCTCAAGAAGAACTGTGCTGAGTGCTTGTAGTCATTATTTTGTCTTTACTACTCTGTGAGAAGACAGCACTTCCTTTTGTGAGTAATGGAAAGTTCTTTAATATGTCAACTGTAAGATACTTTATTACATTTAATTATCTTTAGTAATGCATAGTAATAACTAATGACCTCAGTAGGATTATTCAGTAGATATGTGAGCTAACCCCCTGTGTCAGACACCTAAGAGGAACAACTGATGTTTTTCAAGACGAATAGAGGGTTCTCATCCCAGGGTTTTAAGCTGCAAAATATCCCACCCTATATTTTCTGAAAACAAACGTTATATAGAGTGTCCACATAAAAGCTAACAGGAAATATTACACACACACACACACACACACACACACACACACACAGCATTGAAAATGCATCAGGAAAGATATACCCTGTACCCAACATGCACAAGGTCTAAGCAATGAAGAAAATCTAGGAAATCAAATAAGACCAGAACATCTATGACTAATATATAAATACTTGAGGCAGTTATATCCATTTAAAAGGTGTCAATTAGACATGAAAGAAAAAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAACGCAGGCGGATCAACGTGAGGTCAGGGGTTTGAGACCAGCTTGGCCAACAAGGTGAGACCCCGTCTCTACTAAAAATACAAAAAAAATTGCTGGTTATGGTTGCACGTGCCTGTGGTCCCATCTACTTAGGAGGCTGAGGTAGGAGAATCATCTGAACCCAGAGGTAGAGATTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCTTGGGTGATGGAGTAAGATTAAAATATATATATATACATTTTTACATAAGAAATTTTATTTTAATTTTTTTGTAAATTAGAAAATAGCAATTAATATGGTATTTATATACCAGAATCTTTGAATATCTAAAATTTAAGAAGATGTGAGCAATTTCATGAAACTTTTCAAAGCTTAGAAAAAGGTAGCTATGTAAAATAACAATGTATGTTGTTTATGGGAACATTAGATGAAGTAAGTCATGAAAACATGCATAGAAATGATCATATAAACTTGCAAGAAATTGAATGTCTTGCTATCAAAGGAAAGGATGGAGGTGTAAGAGACTGAGGTAGAATGTGAGAAGCTCTGTATATATTGTATTTTCCTTAAAAATATATATTTAAACTCGCATTTCTTGTTTTTCAAATGTTCACTCTAATGAAAATTCTTTTATTTTTCCTGTTACAGTTTTTATTTCTGATCTCATATATGCAGTGTACTGTTGTTCAGAAATATCATTGATCCTCCCTGCAAATGAAATACTCTCATCCTGTTGAATTTGAGAATGTACACATGATTTGCTTTGGCTTTGAAATGTGAGCAGAAAGAATGTTTTACTTTGGGGAGTTCCCAATTGCTAAACCATGTGTCAAAATGAAGTTTTTGTGACATTACAAATGGACTAATAAGAGTGCCTTTGTTGATCCTAGTTGAACATGAGAAACTTGGTTATTGTAAGCCACTGAAAAATTTTAGTTTCTTTTATTACTGCAGAATAGCCTATTCTGTCCTGATTGATACAGCCACAACATTTCCTTAAGCTCTTTGATTTTCATATTGCCATTAGGATGTAGAATGCCAAGAGAAGGATAAATCATAGGATCAGAGAATGTTAGCAGTGAACGAGACTATTGGAATACATTTTTTCAATGGTTTCCAGACTTTGGGTTCTAAGTAATCAGTAATATTTCGAAAAAGTAGTAAAAGATATTTCAATATAAAAAATAATGACATTTAACTTTGAAAAAAAAAACCTATCATTGCTAGGCATAATGGGTCTAGCTTGTAATCCCAACAACTTGGGAGGCTGAGGAGGGAGGATCACTTAAAGTCCAGGAGTTTGAGGCTGCAGTGAACCATGATTGCATCTCCACACTCCAGCCTGGGTGACATAGGGCCACCTCAACAACAACCACCACCAAAGCTATCATTAATACATTGTTCCTCTGTCTCTCTTCCCATCCTCCTTACCACTTAGTCTTAAATCTAATCTTATTAAACAATATCTAAGGAAAAGATAAGAAAAATGATGGTTGCATCTATACTGAACATGTGTTGACTTTTTTCTTGTCACTATTTTCTAAACAACACAGTATCACAACTTTTGACATAGCATTTATGTTGCATTAGTTATTATAAGTAATCTGAGATGATGTAAAGGTTATATGCAAATATTATATTTTATATAAAGGACTTGAGTAATTATTACTTTAAGTATCCATGGTGGTTCCTGGAACAAATTCCTCATGGATATGGAGGGAGGAGGAATCACTGTAATTAAACAAATCATCACTTTAAAACTTAAAACCTTTTGCATGTTGAATACAGTCATGCACCACATAAATGATGGTGGTCCCATTAAGTTTATTATGCCATATTTTTATCGGAAGTTTCCTATGTTTAAGTGTATTTAGATACACAAGTACACTGTGTTACAGTTGCCTATAGTATTCAGTAAAATAACATGCTTTACAGGTTTGTAGTCTAGGAGAAATAGGCTAAGCCATCTAGGTTAATGAAGTCCATTCTATGACATTTGCACAGTGGCTTAATTACCTAAGGGCTTTCTCTTCAGAACCTACTCTTGTCATTAAGCAATGCATGACTGTAGTTGGACAAAAAATAATAATGCAGGCATACCTTTGGCACTGTCCTAATTCTTACCAGCATCCATGATTGCTTAAATTTGCACTGGAAAGACTTCAAAAAACAGTGATATATTAGGACAATATATTTCCAGTACATGACAAATGATAACAACATAAGAACTCGAAACACTCAATAAAAAACAAAAAATAAAGCAAAACTAGATGGGAAAAGGAAGAAGCAAATTTCAAGAGAAAACTCAAAAGGCCAAAAAATGTGAAATGATGTTCAGCCTTGCTAGTAATTGGGAAAAACACAAATCATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCACGCTGGAGTGCATTGGCGTGATCTGGGCTCACTGCCAGCTCCACCTACCACCTTCAGGCCGCCATTCCCCTGCCTCAGGCTCCAGAGTAGCTGGGACTACAGGGGCCCACCACCATGCCTGGCTAGTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCGTCTCCTGACCTCGTGATCTGCCCGCCTCAGCTTCCGAAAGTGCTGGGATTACAGGAGTGAGACACGTGCCCGACCCAAATCATTTTTAATCTATTAGTCAAAAATTAGAGCTATGATAATATTAATTTTTGGTGGGAGTGTGGCAAAAGGTACTATAATATACTGCTACTAGAGAGTAAAAATTGATAAATTTTGTAAGGGCAATTTTGCACAATATGAAAATATAAAAATATGCTTCATGTTTACCATACATTTATCTAGCATACAGAATTACCCATGTGTAAACATGTATACAGATGTTCATTATAACACTTCTTATAAAAACAAAATATTTGGAAATAAATGTTCATATTAATAAGGCGCATACCGTATGATCTTAGTCCAGTTAGAATATTCTGTTTTATTTCAATCCTTTAAAAGACTCAACTTCTGACTCTATATAGACGATTAAAAAAAGAATGTGTTCTCCCTTTGTGCATTTGGTCAGGTAAATTAAAAAATACACCACATGCTAGCCGCACCAAACTGGAATAAGCCTTTGGAAAGAAGTTGTCCTTGAAGCTTGTATCTGACATTGTAGCAGGACGAGCCTCAGACAAAACCTCTCAGACACTGAGTTGTAGAAGGAAGGGCTTTATTCAGCTGGGAGCATCGGCCAGCTACTGTCTCAAAATCTGAGCTCCCGGAGTGCACAATTTCTGTCCTTTTTAAGGGCTCACAACACTAAAGATTTCACATGAAAGGGTCGTGATTGATTTGAGCAAGCAAGGGATACGTGACAAGGACTACATTCACTGCTGGTCAGGGAGAAACAGAACAGGGCAGGGAGTTTCACAGAGTTCTTTTATACAATGTCTGGAATCTGTGAATAATATCAGCTTCTAAATCATAAGTTGATTTTTAGCTACTGGGTTTAGGCCAATCAGGCCCAGGCCTGGTTTCAGGCCTGGCGCTGGGCTGCATGTCTTTGGTTGTACTTCCTGGTTGTTTTTACTGAATAGAAAACAATATAAAACAAGGAGAGGGTCTTTGTCTCCTCTCAATATCAGCACTGGATTGTAGAATGTGTTGCTGATTTTGACCTTGTATTCAAGTTAACTGTTGCCCTTGGTATCTGTACATATCTTTGATTTCAGTCTTTACTACACGTGGCTTGGTCACTTCATGGCTAAAAACATGCTTGTGGAAGACCAGTCTGGCTCGGTGAGTCTGTGCGGCCAGCAGTCTCTGATCTGTACAGGGTATTAATGTGTCAGGGCTGAGTGTTCTGGGATTTGTCTAGAGGCTGGTAAGGGCTTCTGGACCACTTGTTTCTGTCCTGTCAGTCTGTCAGGGTTGGAAAGTCCAAGCCATAGGACCCAGTTTCCTTTCTTAGCTTACGTTATCTACCAGAGCACCGTGGGCTGTTACTTACCTTGAGTTGGAAGGGGTTCGCATTTATACCTGTAAAAGTATTCATCCTTTTAATTTATGTAAAGTTTTTTTGTATGCCATTCTGGATCTTTAAAGAGATGACAACAAATTTTGGTTTTCTACTGTTATGTGAGAACATTAGGCCCCAGCAACAGGTCACTGTTTAAGGAAAAATAAAAGTGCTGCCAGAACCTAAGAAAAACATTAATATCTAAAAGGTCATTTAGATGATTTCCATGAGAGACTTTTTGATGTTCTTTACCTGTTAGGATTATTATTGATAATCCTTTTCAGATTATGAATAAACAGTTTGCCCTCAAGTATTTATTCA	-	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	GCTAATATTTACTTTGTAAAATGTGCTTCTTACAGGAATATAAATAGTTTCTGGAAAGGACACTGACAACTTCAAAGCAAAATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAATACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCTCTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTGGGTATGATTCATAGTATCAATTGCAGAATTCACTATGCTTGTAGTAAATAGTATTCTGATCTTATCCGTGAAGCTTAGGCAACATTTTACTTCACAGGTAAGTATTCTAAGTAAGAGTTTTCTGAGGAAAAAACAATGTAGTATTCTTGGCAACTTTATATTTTGTTTCTGAGATAATCTTTCTTCAACAAGAGCCCTCCAATGTGCTGTTAATATTTTCAAGAGATAGCTGCATATACCAAGATTCAAGAATTTTTTATATTATTGATTAGTTTCTAGAACATTCAATGATATAGAGTAAGAATTTGGTAGTTATGAAGACTGTTTAATTTGTAGGTCTCTCCACCAAATGAAAATGTTGCAATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTTAGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGATGTAACAATGTTGGGGTAAGTGAATTCTAGTTTCCTTGAAAAATAACAGATAGGAAAATGATTTCTCTCTCTTCTTTCTTGCTCCTTTTCAGCAGAAAGTTTTCCATATTTTATTTTTTTAATTTTACTTCATACTTTAAAACTCAAAATTAACCGTTGCCTTATGTTCAGCTTTTGTAAATATTTGTGTATGTGCTCTCTATCTACCAAAGAAACAAGTTTAAAGCAGAATTTACTTCTAAAGCAAAACATCAAATTTTAACTTTTATACCTATCTATATTTCCTGGAAAGAGTTTTCTGGTTAAGAGTTATAATTCCAGTTACAATATTTGCTATCATTTTTAGGTGACTTGTATCTCCATCCATAATTCCTGGGTTTTTCGTGGTGACTAGCTAGCTTCTCTATTTAATGAGGAGCATAATTTGAGACTAATAGCTCCCTTATTTGTCTTCAAAAGCTTAGTAGAGAGTACAGGCTTTCTCCTGGTGACCGACTGTAATTTCCAAAACAGTAACCTTTCCAGTCTCATCTGAGTTTTGTCTCCCCGAAATGGGCTTTTTGCATTTCCTCCTATTTATGGTAGTTTCTGGTTCTCTCAATTTACCATTACTATAAATATTTGACCAAGTGTCTAGAAGGCATGTAGGTGTTTAGTTCACATTACTTCTTCACAGTTGATTTTTGATCTTGTAGGAAAATAGTTATAAGATATCATGAAATATTTTGGAGTTTTATTAACATACTATAAACTTGAATCAATAATGCTTTAAATTTCTGCCTCTCTGTAAGTCACACTGAAGTAGAAACTTTGCTTTCTAGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTCTGGTAATGCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGACTTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGTGGAGATATCGAGAACTACAATGATGCTACTCAGGTAAATTTTTTTATGAGAGTCATCTGAATAAGGGGTGATATATGCCTTTTCTTGTAGACATGTAGCTAATTGAACTTCATTTTAAATACGAATTTAGATCTCTTAGGGACACAGGTTAACAGGTTTGACTACTTTAAGAAACTCAAATCCATATTTAAAAACTTAAATATAGATTTAAGATTTTTAATCAATACACATTTGCCCACTTTTAAAAAGCTCCCAACCAATTAAAAAGCTCGTCGACTTTATTTCCTAAATTCTCTATTTTCTATTAGAAAATATTTCCAAGATACATCTATAGTAGAATGTGAGCATCCCCAGCGCCCAATGCAAGGAAGTCACTATAGAATATCTCTTGAGGAATCATGGAATAAATGAATAATCAAATGGATTCTCATGTGAAAAATGAGGTTTTATGAATCAATCATAACATTTTTACCTCAACAGGTCAGAGATTGTCGTCTGGTTGGTCTTCTTGATCTTGCACTGGAGAAAGATTATGTGCGTTCCAAGATTGCCGAATATATGAATCATCTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGAGACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGAAGTAAACCTTTCATTTACCAGGAGGTACATCAATACATATATGCATATAAAATATCATCTTATTCATTAGAAAATAATGGCAGATTTAATTAAAAATGCAATTTCTATAGGATAAGGACTGAGTCATTTATATAAAATGGTGTTCTTTAACCTCCTCTTCACATACAGCATATCTAATTCTTTATCACAAACAAAACAAAACAAGACAAAAAGAAATAATAAATAGCTTAATTTATTAATAAATAACAAATAGCTTAAAGCTATCTTTTATATAATATTAACTTATTGGTTAAAATGCTTTAAAGTCCTTATGCAAAATGTTACTTTTTCCTAATTTTCTACTAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTTATTCGCAAGTGGAATGGAGAGAAGATGTCTTACCTAAAGTAAATAAATACAACTTTTCCCCTGAAGTATTTCATAGATTTATTAGTCATAGTACCCCAGTGTGAGTTATCTTCTGGAACATTCTTTTTCAGACAACTATCAAGGAGTCAATTGTTAATGATAAGTATTCTAGTGCCCTAAACTCTAATCAATCATCTTTTGTATTTAGAGTGTCTATCACAAGTGAGTATGCCTAGGAACGCTAAACATATCCTAGGAGTTTCCGTCTAAGTACGAGATGAATATACTGGATTTGACTGATGTTTGCATATAATCTTTTAAAGCCAGGTTATTATTAAAATGATCCTATCATTTATAAAGTATGTACAAAGTTTCCATACTGTAGAATTTACATATATTATATGAATTAAAAATATAAAAATATTTATATTATAACAATACAGTATTGAAGCCTTATTTTAACCTAGTTTGACATTCCGTAAAATGTGATATGGATATTGATCCTTCTGGAGTGCCTCTAAATGATAATGTGCTGAAACCTCTGAAAGGACCTTTTTTAATAACAAAAATCTTATATTTGTAATATGAATATAAGTATTCCATACTTGTATATACGAATATAGACTACATATGTAGATTACACACGTGTGTGTATATGGTGTGTGTGTGTATATATATTTGAGTGTGTGTTTGTGTGTGTGTATGTATATATATATATATATATATATATCTTACAGAATAACCATTTAATTAGAGAAAGAATTTAATCTTCAGATGCCATGCCATGCAGAAAGAGATGCACAGTTAAGTTACTCGCAAACTATTGTGAAATGATACATCAACATATATCTTATTTTTCAAAAATAGGAACTGGGGAGAAGGTTGGGGTTTCATGCCTTCTGACAGAGCACTTGTCTTTGTGGATAACCATGACAATCAACGAGGACATGGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGTAGAAAACCAAGTTCTCTATTTTTTTTAACACATCTTTTAATGATGGTAATGATATTCTGATATTCTGTGATAATATAATTATGTAACTTTCAGGCTGTATAAAATGGCAGTTGGATTTATGCTTGCTCATCCTTATGGTTTTACACGAGTAATGTCAAGCTACCGTTGGCCAAGACAGTTTCAAAATGGAAACGTAAGTTTTGAAATTGTTCAAACTATCCTTTTCTCAAGAAACAGAAGGCAATCTTGTTCTAACTTAATATGACAACTATTAATTATATATTCAACAAATAATTGATTAGAAACCTGATATAGGGCTGCGATTTTAGTAATGCAGGTTATATTAAAGGAGTAAAATATATATTTTCCATTGACAAAGAGTATGCAAGCCTTTTCAGACATATGATAAACATCCCCCTAGCCCACAGGAAAAAAAAAAAAACCACTTAAAAATAAGAGCTAGGCACAGGGATTAAAATATATACTTCGAATAAGTACCTACCTCAGGGTTAATAGGAAGATTATACATGCCAACACTTTTAGAGAACTTAAAACATCATCTGCCCACAGTAAGAACAATATAAATGTTCGTTAAATATTTTTAAAAAGTTATATGGAATACAAAAAAATGATTCAGTTGAGCTGAGTTAAATAGGGAAAAGTATCTAATAAGAGGAAGGAAATTATATGTACTAAAGAATGGAAATTTAGAGAGTATTCCAAGAAAGGTAAGAATGAGAAAAATATTTGGGAGTATGGTAAAGACATTTATCTGATGAGTAGTTTCAAAAAGGAACAGAGAAATAAGAGTGTACAGATATTTGGAAAGCTAGTAGAAGGTTTTCTTTAAACTAAAGGGTTCAGAAACAGCATCAGAGACTTCAGATCTAAAGCAGAAATTCCTCCTTCCTCTGAGTCACACAGATATCTAGCTAGCTTTTTTTAGATTCCTTTCAGTTTGAGAAGTCTGTTACTTTGTATAGCAACTGATTCTATTGTTAAACAGCTTTAATATTTAGGTGTACTTTTATATTGAGCCAACTTATCATGATTTCTACTAATTGGTCTTATTTCTGATGTTAAGGGTCACAGAGTATTTTTATTTTTTCTATCACTATAACTTTTCCACTTTCCAGGACTGCTGCATGCTAAAAACTCTTAGTTTTGTTCACTTTTCACCATATGACATAATTCTAAGGTCAACACTGAAAAACTTCCTAGGGTTACTCTGGTTTTTTTAATTAAGATTTTTTAAAGTGCCAATCAGAAAAACATAATATTAAAACTGGTGTCAATTTATAAAAAATGTTCTGATGTATTGTTTTGTACAATTATCTAAACAGAAGCATGATGGACTCTAATATTTATTGAGCACATGTCACGTTCAAGGCATTTTCACATATATTACTTAATTTTTATAGCAAAAAAACAATATTCCCATTTTACAAATGAGGAAACTGAGACACAGAGAAATTATGTATGTTGATTAAATTTTCTTAGCTACTGTTAATAGAGCCTATGTTTTAATCCTGGTGTTTCTGGTACTAATGCCCTTCCCATTTCAATGACATTGCATGGCTTACAGTGATGTTAAGAAGCCCTTGCAGGCCAGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTGGCGAGTCCAGGCGAGAAGATCAGCTGACCTGAGGAGTTCAAGACCTATCTGGGCAAGCTAGCAAGACCTCGTCTTTACTGAAAATTTTTTAAAAATTAGCTGGTTGCGGTGGTGCACACCAACAGTCTTAGCTACTTAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGATCAAGGCTGCAGTGAGCTATGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAAGAAGCCTTTGCAGTTCCTTGGAATGAAAAGGAGAGGATAACAATTTGTTACCTTTGTTTGAAATATGGCAAAAGAGAACCAGAGGATAGAGAGATGATGAAGACCCAGTAAAGGGCTATAAAAATTATTGAAGGCATTGGATTCTAGATAAAGTCATTGAATGCAGAGACACAAGTAACAGGATAGGTTGGGTTTGGTTTAAAGGAGAAGGAAGAGGTAAATATATGTATGTTAAAATTTGGCTTTTCACCCCCTAATTAAGGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGAGTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAACATCGATGGCGCCAAATAAGGTGAGAATATGTATTTAGACATGTCCTCTAATAGTAAACTTTCCATTGCATTTTATTTAAAACAGTTGAAGTTTAAGAATATCAACGTTTTATATGGTATTGTGTTTTTAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCTTTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGATTCATTGTTTTCAACAATGATGACTGGTAAGTACATATCAATTAAAAATAATATTTTGTACCTGTATGCTCTTGGTTTATTCCTTTTTTTCTGTTCATTGACATTTATCATATCTGAAAAATCATGTAGTCAGTGGAGCAAGAAGACAATAGACATCAAAATTGGGCAGAAGTAAAAAGATGATGGCTGTTACTCCTTCATTCTCCTGTTTTATTAAGGGCTTTCTGTTGTAAGCAGAGTCCTTTCTGTGCACCCTTGCAATATCTTATGCATATATTGAATGCACATACATATGCTCACCTACACATGCCACAAAATACACAAAGTAGTTAATATGAGGATTGTGAAATCATTAAAAGAACATGTCTTATATTCCTGTTTTTTTAATCATGGAAAAATGCTGCCTGAGTACTAATATATCTTTATTTCTAACTCTTTTTCTCAATGACTGCTCTATGTAGTTTTTTGGTATACTTTCTTCACTTCTCTGTCTCCTTGTGACAAATAATATTTTTAAAGCATATGCATAAATAATATGTATCTTGTGGTTAATGATTGGCTTCAGGGGATTTGAGTTTTAGTTCCGAAACTTCTCATTATTGGCCTTTCATCTGTGATTCTTATATCCTTTACTGAAGTATAAATGATTCCCTAACCTATAGCTCAGAAGACCTCGTTGCAAACAGTTGAATTGTCTCTGTCCAAAGCCAACTGATACTCATACTTAGCTCATTCTAGTATAAATTATATTTCACTGATGAAAAATAAATAAATACATAAATACATAAATCTAGTTGATCTCTTTCCTGCCAAAAAAGCCCATGTCTAGTTCTTTAATTTCTTTCTTTTGTGGATGAAAATACCAAAATAAATTTTTGTGAGAAAGCTTTATATTTCAAACTATCACTTCTTCATAGAAATGCTAGATTGTTTCTATGTATGCCCCAAATTCTTTTTTACCTTATGGGGAAAAAAGGAGATTAAAAAAATAAAACCCTTTAAAAATTTTTTTTTAAATTATACTTTAAATTTTAGGGTACGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACCCTTTAAATTTTTAAAAGTAATTTGTATTAAGTTCAGTTGAGAACAAATTTGATTTTAACAAGCTAGCACTTTTATCAAAGTGTGACCATTCCTGCCAATCTTCAGTGATATTCTTCAACTTTGATTTTTTGGTAATATTTTCACTACGGACCAGGGAACTGCTACATTTTCTGTAAGGTTACTTTTGGTCCTAGAAAGCTATTTACAACTACTAGGGAGGCATATGGGTTTTCTTCTTAATGAGACTTCACTGCTTAGGGTTCTACAACATAAAGTTATGCTGTTTAGTTGTGTTAGCCTGTATTCTTGATTTTCAGTGTATTGAAGTTAAATCTGAAATTTTATTTTACAGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATTAAAATCTACGTTTCTGACGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAGGATCCATTTATTGCAATTCATGCTGAATCTAAATTATAAAATTTAAAATTAAATGCATATCCTCAAAACAATAGCCAAGTGTGTTTCTTTTCTTACATATACAGTAATACTTATATTTCATTAATTTTTAGTAAAAGCTCTAATTAGTAATCAACTTGTAAAATTCACAAAAAAACCAATAGTATTAAAATCCCACTTAATTGTTGAATAAGTGTAAGATAATAATAGTCAGCAAGTTGTTATGCTTTAGAAGACTGACTTTAACCTATTTAAGCTATGAACTCAGAAAAGCATCTCAACCAATATGTTTGTTGCCATTAGCATCATTTACCGAGCTGTGTACCTTTAATTTCTGCCATTCTATAATCCTTCCAAGGAGTGTTTTTATCAGTTAGTTAGGGATAGCTGGTTTAATGCTGATTCCCATGCAAAGTTAGCCCGGTTGTATGCTTTTTATAATATGCAAGTACTTCTGGTGTTAATAAGGTTAAAAAATAGAAGAAACCTAAATTATACAATCTACAGTTATCAGTTCTATTGAGCTCACTGGAATCTTCTCCTACTTTATAGACTTCCTTCTTTTTCATTTTTTTCCTAATTGCTTAGACTTGTTGTATATGACTTTTTGTTCTTTTTCTTATTCTACAATCTGGATATTTATTTAGGGCTTTCATGACACCTTGTAGTCTGGGTTTTCTTCCCAATTCTCTACCTATTCATTCTTCTTCATCTTGACTTTACATATGGAATTCATTAGGGCTCTCATCTAGGTTTCCTTATAACTCTCAGTTGTTTTGTTTATGCTTAAATGAGAACATAGAGGCCATAACTCAGAAACTGTCTATTCTTCACCTATAAATTGTCCCTGCCACAAAGCAGATTCACTGTGCATTGGTACCACTTCGGCTCACTGCATCTTGGGCTGCAGTTTCTACTACTTAAGATTGAGTCCAGTGATTTAGAACATACACACAAAAAGTTGCATGAAGCAGGCTTATTGCTTATAGATAGGCATCAAGTGACACAGAAGCCCGGCGTTCAGGAGGAGCCAGCCTCCCAAGACTCAGACCGTTTGCCCAGGGTGTTGAAGACTCATTTGCACATGCCCTATTTGTACCACAGCTGAGGGACCCTTGAAAGAAGCCTGCCCCGTGTTTTATAACCCAGGCATCCCATGATACACTGGGCTAAAGCACTTAAGGAAATGTTCTAAGAGGCACAGTAAGAGAGTCTGAGACTTATCTCAGGATGTTGCATTCCCAGCTCATTCTACAGCTATTCTTGAGATGCACAAGTTATAGAGGAGGAAAACCTGGGTTGCTCCAAGGCCACTTGGAGAGTTGTCCTGCATTTCCTCTAGCATTTTCCTTTTTTTTCTCCTATTACAATAAAGAAAGTACATGTCATTCTAAGAAAGGCCATTTTCTCTGCTTAAGTTAATGATACCATTCCATTTTTATCTTTTGGAGGACTTTAGATTATCCTCCCTCTTTTGATTTAGCAGTCTTTCCCTTTCTTCTGCATTAGTCATCCTAGATTACATGTATTACAGTCTTCCAATTAAAAACATCAATGACCATCCTCAGATATTCTTCTGGGTATATTACTTTGCTCATTTCCTTGCTCCCTCTCCTAATTAAACATCTCTTTTTATCACACTGTCTCCACATCCTCAGCCTCCGTCATTATTCATCTCTCTACTGTCCAGTTTTCACCATTATCACTTCATTCAGTCTGCTCTTGTCAACATCATGAGTGACATTTATGTTACCAGTCCAATATATTTCTCTGTCCTCACCTTAAACCACTTCATAGCAGTATTAATGATGGTGGGTCACTTTCTCTTTCTATCTTCCTTTTTTCGTGTTATTCTACTCTCCTGGTTGCCTTCTGTCTCATTGATTGCTCTGTTTCAGGTTTTTGTTTTTTTTTTTATCTTATTCTTAGGTGGATCATCTTATTCTGTTCCACCTAAGTCCTAACTTTTATCTATTTCTCTTCTTTATCTTCTCTTCTCTAGGTGATTGGAATCATTTCCATGGATTTTAAACAAATATTTTCTGTGGACACCTAGGTATCTTCAATTCAGAACTTGGACTTCAGCCTCATACTTCCATCAGATGCTTGTTATCACCACTTCCATGTTCCACAGACATCTCATAATTAACATATTTAAAATGGAACCCTCATTTTTTTTCCTTGCATAAACCTTTTACTACATTATTTTCTTACTGCTTAGAAACCCAGGATATTTTCTGATTTATCTCTCTTAGCTCAACAACTTTATCTCTTCATATAAACCTTAGCATGAACTATTAATTGTATCTTCAAAATATCTCTTCATTTATTGCACTTCTTTTGTATCTTCTATCACCCCTTTATCCAGCTCACAATTATCTGTTCTCTGCATTCCAAAACAACTCTGCAACTGGTCTCCTATTTCCATTATTTTACTGTCTCCCTTTATTTTACTAAAGACCACAACATTATATTCATACAATTTAAATCCAATTAAAATGTTAATGCTTAAAACTCTTAAATTTTTATTGCATTCAGAATAATTCTAACCACTCATGGTAGCCTACAAAATCACACCTTATCAGACATGAACCTCAGTTCTATTCTTTTCCCTTGACAATCCCATAGCCTTAGGTATTCTGGTCTTTCGTCATTTTATTAAATATGCCATGTATTTTTATTTTATGTTGTGGACTTTTTGTATGTGTTTCTCCACTCTTTTGGAATCCTCTTAACTGAGTTCTTAGCATGGTTGGCTCCTGTTTTTATAAGTACTCCCAAACACAGGAACTAGCATTACCATTTTTTCAGTCCTGCAGTTCAGAAATCTGGGGCTTACGTTTGAAACCCTCTTCTCTTACATTTCCCAGAACAAATAAAGCACTGAATACTTTAGATTTTTGCATTCTATTTCTTCACTATATTATTTTCTCTTTCTACTTCTACTATCTAGTAACCCTTTTCTTCAATGACCAAAATCTATTTTACTTCCAGCAATATGGTGAAAAGACTATCGACTCTTAATTTAAAGCCAGACTTTATTGTTTATAACAAATGCATTGCAGAATGTAAACAGAGAATGTAATCACAAGCCAGGGGCTGGGAGCACTTCATATTAGTTTCTTAACATGTCAGAACCACATTCTTTCATTTTTATAAGAGAGTAACCAGAGAGCCACTTTAAGAATTTTTAGTGGTTAGCAGAGGAGTAGAGGAGAGTGCCCTTGATACACAGGTAGTGGTGAACATGTATCTTTACCCCCAGCAGGAGAGAAAAGATAAACATTAGAGACATAAGCTAGCAAGCTTCAAAAAGGATATTTGAAAGGGGTTTTGTAATGGGATATCAGTTTTTGTACAAGGGAATTTATTTGTACAAGAGGTTACGGAGCTTTTCTCGGAGAATAAAACAAGCCTGTCTATTACTTGAAATTTTAACTTTTAGAATAGCTTACGTGCACTTATGCTGATTATTGAGGGGTTGACTGCAGCATCAGCGTCCACTTCAGTCCTTTCTCCAACCATTCCATTATCTACCATGCGATCAGAGTGATCTTTTCAAATCAGATAACCACCACCACTTACCTTAGGATAAAAAGCCAAAATTCTTATCAGGGCTTGTAACCCTGTGCTTGAAGTCTTACCTCACTCAATTCTCCTCTTTAATTTCTGATCTCTAACCATGCTAATCTTTTAGTTACTGCAACTCAACAAGATCTTTTTAGTTCTTTAATTTCAATTCAAGAGACATTCTGCTCTTTCTGCTTGGAATGCTCTTTTCTTACCTCTTCTCCTAATTAACTCCTGTTCATCATTCAAATCTTAATTCAAATGCTGATCCTGCATGAATATTTATTCAGTATTAGGTCAAGTCCCCTGATGACTGTTAGCAATCTCTGTACTTCTTATCACTCAGCATAGTACTGTGGGAAATATCTGCATTGTTCTTTATTGAATCCTTAGTCTCAGGACATTATCCAGAATGTCTTACGAAGAGATCAATAATTATTTGTAAAATGAATTGAGATAATAATAAAAGAGAAAAATAAGAGAAAAAATGTATCTATTTTTGAGAAGGAGAACATTTTTAATGAAGATGTGGCCCTGGAATACAGATGTTTCTCTCATTTTTTTCCTATTTCTTCCCAAATTTAATTAATTTCTGGTTAACCCTGATTTCTCAGATCATAAAAATCATGGGGAAATCAACTACTTTGGCAATAACCCATCATGTTTTCAGGATTTGTAAGCCATAACAACAGTAAATTCTTTGGTGAGCTATACTCTCAGTAAGTAAATGAAGAATAATTCAAATATTATTGGGAAAATGATGCCACATTCATCTGAATATAATAAATGTGAAATTCATTTTACTATGTTCTTAGAACTTTGTAATACTAATTTATAATAGCAGTTTCATCCTTTAGATATTTCATTTTATCTACGGATCTAATTCTTCCTGTGAAATTACTGAGCTATTTCTCTATTCTTAGAAGAGAAAATAACTCTTTGTGATAAAAATCATTACTATGTATAATTAGACTTCCGTTTACAAGTCAAACTGAACCAACGAACTTACAATCATAGAATGTGACTAGTCACAGGGAATGGTTGGGGCATTAGCTCAGTACCTGTCCAAAGTGAGCTCATTATTATGATTATTAGTATCACCATTATCAATCAGCTTCCACATAAAGTGTACCTAAATGCTAGATCTATATGATAGCTTCCAAAATGACACTGATTTTTAATAATCCAAATCTTTAAAGAGATCACTTTCCATTTTAGAAAAATGAGATTTTTTTTTTTTTGGAAAAGATAGAAAAACCTCTAAGCATTTTAACCAAGGGTTTTAGAACACTTTATTTTTATGAATATATCAAAGCAAATTCCTTCTTTATTTTGAAAGTGACTGGAAACAATTTCACGGTCTTACTAAGGGCTAGTTTAAGTGAGTCTCAATTTTTCTTCTGTTTTGTTTGCTCTTACAACTTTCCTCACACACACACACACACAAAGGGAGATATAAAAAAATCTAGATATAACAGATGCAACTTACAATTTTTTGGTAAGAAATCATAAAGTTTTAGAAAAAATCATTTAGGAGTGTCAATAAAAACGATATTTAAGAAAACAGTAGGAAAAGTGATATATTAAAAGACTTTTAAACACCTTTCACAAGAAATTGAACAGATGTGCAAATACACATTATACGTTATCTATTTGCTCATTTTATCCTGTCCTTAAACATAAACTTTGAAGATAAAAGAAAGAAGTGTGGCTCAGGGTCACTCATGTAATCTGTTTTTAGGCAGAAACAGGTGTGTTGAAAGGTTTTTAGGTAAAACAACCACCACTTAGACTTCAATAAAGTAGTATTTATTATTTTCCTATAATTGCAAATTTACCAAATGTAACTCACTATTTTTTCTTTAATATTTTCAAAGATATTTTTGAGTAATTATTATATTTTCACAATCAATTCAGTAGACATTTTTGAAAAACTTATCTGAACCTAGTTTTCTCATCTGTGAAATGGAAACAATATATACTCTCTCAGTTTGTTGTGTCAAATGAGAAACCATATATGATATACTAACCACTGGTTCTGGCTAAATGCATACCTCCTCATCTTTTCAGTAAAGACATGACTGTTGGCCAGGCACGGTGGCTCACGCCTGTCATACCAGCATTTTGGGAGGCTGAGGCGGGCGAATCACTTGATGTCAGGAGTTCAAGACCAGCCGGACCAACATGGCAATACCCCATCTCTGCTAAAAATACTAAAATTAGCCGGGAGTGGTGGTGCATGCTGGTAGTCCCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAATGGCGCTGGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGCAACAGAGTAAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAAGTAACTGTTATTCTCAGTACTTTGGGCCAGCACAGTACTGATACTCTCCTAAAATCTAACTCAAAGAGAAAAATCACAAAGCATTGGAATTGGAGCAGAAAGTAATGTATTCTTGTTTGACATCTTTCCACATTCAGTCTGTGTACTGTTAGCTGAAAGCTAGTTGACACAAAATGCTGTCTTAACTTTAGTGTTGTTTCTAATTTAGTTCTAGGTCATAAAATTTGTAGGAAAGTCTAATTCCAAAACTTTATCAACAGCTTTGTTACGCTCAGGTATTATGATCAGATATCTTATGTGTGCTCTATGACCTCAAGCAAAGATTAAATAAATCTGTACATTACAGTGAAGACCCACATCAACCAATGCAACATACATTTATTTTTCGCAGCACTCTTTTAGGTGCTTTGAAACATGTAACCCATGTTTAAGTGCAGAGGATAGCTGGCAAGGCAAAATATAACTATATGATGTGTTAATAAGAATACAGAGGAATAGTTAAAGTGATGCATAATAAAGTACGGAAATATGTTGTTTGATTTCAAAGGAAGGGGATAGTACATATGCTGAAATGGCCTGGGAAAGCTTAATGATAAGGAAGGTCTTGAGATGGGTAAGAGAGATTTGTAAGGAAGAGAAAGGAGGGAAATTTATTCCAAAAGAAGAAAAAGTATGACAAAAGCACAAAGGAATAAATGAGATGAATGGCAGAAAATAGATCAGTTAATCAGTGAGGCTAGAGAAGCACGTTTATGGAACACTAGTGAAAAATATGATGAAAAGGTAGAATGTGACCAATAACAGAAGGATCCATTTTCTATCAAGACTTTCTTATTAGATTTGATATGTTCATACCAGCAATGTCATCTCTGAATATAAAAGATATCTGTACTTACGCAACATAATTATATGTTATCACTGGGAAATTCTAGGAAGTAATTATCAGTCCCTTTATTAATATTACTATAGAATTAACTTATTCAGTTATAGGGTACACTACGTTTATAGTTTACTTCCTTCCTCCCCCAGCCTCCAGCTTTGTAATTTAAATGAAACTAAATTCCATCATAATTCACTCACTAACACATAGGACTGCCAACCTCTGAATGGCTTTAGATTTGCGTGAACCTGTATTTGTCAATGCTTGCTCCAGGATTCTATTGGCATATGTCGAAATAATTGATTTTTATGACAACCTGCTTCCTGCTTACTGTTTTTTACCATAGGGAGGGAAAAAATAGAATTATCCCTTGATTTAGCTGTCAGTCAAATGACAACTCAAGCATGCTATAAAATTAAAGAAAGCCCCACATTCTACCAGGAACTGATGATTTTAGTGATACTGCTCTCTTTGTAGAAGAAATAAAGTATTTTCATATCTTATGATGAATATCACTATAATACATTAAAATATAGAATTGCATCCAGCAAAATATCCTGAAGTGGACAAAATATGCCCCTCCAAAATATGCCATTTTTGCACAATAATTTTTTTGAGCAGAAAGCAATTAGCTCACTGACTTTCACCTTTCTAAAAGCAAGACATAAATTTCAATTTGTAAAGACGTCTCCCTTTAGTGTACTTGTAAGAAAACTACTCCATAGACAACTCTTAATAGCTGATGACTTATCTGCATAAGAAACTTTATTAAACAATCCTGATTTAGAATACATTTCTTCCCCCACTTTCCCGTAACTTACCTCCTGCACCGAGCAGCCCTAAACTTCTTTTCTTTGGCTAGTCTAAGATATACACCCCAAATCCTAATTGCCTCTTTGCATCACATTTCTTTGTGAATTTCCATGTGTATGTACATAATTAATTGTTATTTTTCTTGTTAACTTGTCTGTGATCAGTTTAATTTGTAGGGTCCCAGACACTGAACCTAGGATGGAAGAGAAAAAGTGTTTCTGCTTTCCTATGGCTTAGGCAACCATGAATGGACAGGCAGGGCATCCCACTTGCTCCAGAGGCTGCAGCTCAATTGAGATCTGACAAAGCTGATGTGAAAACTTTACTGAACCAGATCCTGGAATTTTGCCTACAAAAATACAAATACAGAACTCTGTTTTTTCTTTTCCAAATTCAGATTTGCACGAGAATAAAATTATAAGAATTAGTTCTTTGGAATGTGATTCTGGTGAATTTTCTCCTGAGTATCATTGGTTATTGACCCTTTCACTCCCAGGGAGAGCCATTGCTTTCCTGTGTGTCTCATTTTGTGTCTTGAGCGCTTGGATTCACTTTCTTCCTGGTGGCAGGGTCCACATTGTTGGGCTTGCTGTACAGGCAGTCAGTCATCAGATTGTATGCCCTGAGAATTTGTAGATGGTCAGATAGAGATGCAGGTTGCACTGTCTTGCTACTGATGTTCTACCAACCCTCTCAGAGGGTTTGTCTAAATTTTTATTTCTTTTGGCTATTGCTGGGAGGAACTCCATATCATAAGGACTTCATTTTTGCACTCTCTTTGTGGATACCTCTTACGTTCTTGGCTATCTACATTATTAAATATGTTTTTTCCCTCTCTTATTAATCTTTTATTTATTTAAAAGTGGTGGGTTCCCATGGCCTTGGGCATCTCTGCCTCTGTGGCTTCACAGGGTATAGCCTCATCCTAGCTGCTTTCCCCGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCAGGGACAAGCTGTCGGGGAATCTACCATTCTGGGATCTGGAGGAAGGTGGCCCTCTTCTCACAGCTCCACTAGGTGGTGCCCCAGCAGGGATCCTGTGTGTGTGCTCTGACCCCATATTTCCCTTCTTTACTGACCTATGAGAGTTTCTCCATGAAGGCCCCGCCACTGCAGCAAACTTCTGCCTGGACATCTGGGTGTTTCCATATGTCCTGTGAAATCTAGGGGGAGGTTCCCAAACCTCAATTCTTGACTTTTGTGCACCTCCAGCTCAATAATACATGGAAAATGCCAAGGACTGGGGCTACCACCCTCTGAGGCAATAGCCTGAGCTGTTCCATGGCCCCTTTTAGCCATGGCTGAAGGGGCTGGGATGAGGAGCACCAAGTTACTAGGCTGCACACAGCTCAGGGGTCCTATGCCCAGCCGAAGAAATCACTTTTTCCTCCCAGGCCTCTGGGCCTGTGATAGGAGAGTCGGCTGTGAAGACCCCTGACATGCCCTGGAGACATTTTCCCCATTGCCTTTGAGTTTAACATTTGGCTCCTCGTTACTTATTCAGAGTTCTGCAGCTGGCTTGAATTTCTTCTCAGAAAAAGAGATTTGCCTTTTCAATCATATCAGGCTGCACATTTTCCAAACTCTTATGCTCTGTTTCCCATTTTAAAACTGAATGCTTTAACAATATTCAAGTTACCTCTTGAATGCTTTGCTGCTTAGAAACTTCTTCTGCCAGATACACTAAATCATCTCCCTCAAGTTCAACAGTTCACAAATCTCTAGGGTAGGGGCAAAATGCCACTAGTCTCTTTGCTAAAACATAAGAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTTTATCTGAGACCACCTCAGCCTGGATTTTATATCATTATTGACATTTTACTCAAAGCCATTAACAAGTCTCTAGGGAGTTCCAAACCTTCCCACACTTTCCTGTATTCTTCTGAGACCTCCAAACTGTTCCAGTCTCTGTCTGTTACAGAGTCCCAAAGTCACTTACACATTTTTGTGTATCGTTTTAGCAGCACTTCACTCCTGGTACCAATTTACCGTATTAGTCCATTTTCTTGCCGCTGATAAAGACATACCCAAGACTGGGAAATTTAGAAGAGAAAGAGATTTATTGGATTTACAGTTCCACGTGCCTGGGGAGGCCTCACAATTATGGCAGAAGGTAAAAGGCATGTCTCACAGGGCAGTAGACAGGAGAACAGAGCTTGTGCAGAGAACATCCCCTTTTTTAAACCATCAGATCTTGTGAGATTATTAACTACCCCGAGAACAGAACAGCATGGGAAAACCTGCCACCATGGTTCAATTATCTCCCATTGGGTCCCTCCCACAACATGTTGAAATTAAAATTGGGATTTGGGTGGGGACACAGCCAAACCACATCATTGGGGATGGAACTTTTTATTGTGAGTATGTCTGCACAAGTTACCTGTGTAGATTTTCTTGTCTGTGTGGCTGTGGGAATGTCTTAGTCAAACACCCCTATGCAAGTTTACTTATCTATGACTATAGTTTGATTTTTTAGGCTGTTCTTTTGTTTGAATGAATTCAACTGAGTACCCACCCTAACTGCCTGCCTGACTGGTTTGTTTATTTCTCCTCTCTCATTTTTACCCACGGGAGTGGAGAGCCTAACTGCTGTTAGCGAGGTGGGGTGATGCTCGCTACTTCCTGCTGGAAAGGGGCATTGTATGGGGAACAGCAGCTAGGGTTCCTTCTGTGAGCTTTCTAAGGGTCCTTGGAAGAAATTTGTGTCCATGCATGGTTTCATTTGCATCAACATTTGTAGTTTGATAGACTTTAGGCAAGAAAAAAAAATGGATTATTAGAGGACATGTATAAAAATGAAACAAGGGGATAGGTAATGAAAGCTCAAAAATCTCAAGGCTTCAGCCATGCCCAGATAAATAGTGGCTATAGTTATGCCTACTAAGATTTGGGTGCATGGGGCTTTGCTTTGGTGAACTTCCTTGGTTTTATTTTCCCAAACAAAGAAACCTCTGGGTTATGGGTACCCTGTATACTCCCATAACCTGGTAGGATTTGCAGGATAATAGCCCAAAACTAGAATATTGATTCAGATTTTTACACTACTTATTCCTTTTTTATTTTGAGTTGCAGCCAGAGATTGCTGGTTTGTTTACAGGAATAAGCAGAGTTATTCTAAAATGTACGTGATATGGTTTGGCTTTGTCCCCACCCAAGTCTCTTCTCGAATTGTAGCTCCCATAATTCCCATGTGTTGTGGGAGGGATCTGTGCGAGATAATTGAATCATGATGGGTGTTTTTCCCCATACTGTTCTCATGGTAGTGAATAAGTCTCAGGAGATCTGATGGTATTATAGGAGGAAATCCCTTTCATTTGGTTTTCATCCTCTTTCTTGTCTACTTCCAAGTTTTTGCCTTCCATCATGATTGTGAGGCCTCCCTAACCATGTGAAATTGTGAGTCCATTAAACATCCTTTTTAAAATAAATTACCCAGTGTCAGATGTGTCTTTGCTAGAAGCATGAGAACAGACTAATAGAGTAGGCAAAACTTAAAAACAACTAATGAGATTAGAATTTAATGACAAGTGTATGATAAGTTTTGAATCAAATTTTGCTCTCTCCAGTCCTCATTTTTGTTCAAAACAAATCATGATAGTCATTTTGTTAAAAACAAATTACGACTGAGTTGTTTGCAATGTAAACTTAGGCTCATACTTGGCTTGATTATTTGCATAATGTGCAGCAAAAATAATTATTTTTGCAGTCTTTTAAAATAAGCTTTGATGGAACTCTGTTCCACAAGAGATCTCAGATAGGACTTTTTTAAAGCCAAGCCCGGCCATGAGTTTGTACCCTCAAATACCTATGAGTTGAGTGAATTCCTCTCTTCTTAATGTCACAAGAATATGTGGTTCCTGGGACTGTTATATAGTGACATTCTTTACTCATCACAGATTAGAAACCCCGTACACAGATTATGTAGACAAGGTAGGAGGCCACATTTCCCAATGGGCTTTTATTGGCTCTGTAAGTGAAGCTTGATTCCTCAAAGAGAAGCATATCCATCCAATCAAAGCCTTGGTAAAACAACCAGTTTCTCCAATTGTGTCATGTTGCAAAAGAAAATGAATTCTTACTGCACTGGTGCAAACAACGATATTGCCATAAGTTTAGAATATTCCCAAATAGTTTCCAAATTCTGGAGTAACTTGGCAGAGAGAAACAAATACGCTCCAAATTTTGTTCACTGGTGTATACCTTACTTAATTCTTAAAAGCTGTAGATAGCTTAAAAGAAAGGTTTCCTTAACTCTGAAGAACAAAACAAAGAACAGCAATGTTTTAAGCAAAAAGTAAAAAAAGATTATTTCAGACTTCTATTAGTTTAGTTCATGCAGTTAACTCCTGTCTGATATTCATAAACAGTTAAGATCTTCATGACTCTTGTATGATTTCTTTTATTCTCATGTCATGATTTCCAAAGTTATCAGAAACCTGCATTTGAGAGCACATTGTAAAGTCCTACAGCTGATTGTAAAACATCTTTTGAAGAGGATTAAAACAAGACAACATTTATCTGTAGATGACATAGTGTTCAGGTTAGTTACAGTGAAAAACATGACTGGCAAAGATATTTGGTTATTTCTGTGGTTTGCAATAACTTAATACAATAATCCTAATTATGATCCATAGCATATTCTCAAGCATTAGAATTTTTAAAATCCCATACAATTTTGGAACATATATTAATATTATCACTAAAATATAACCTGAATAAGGTTAAACATAATTTTGTCAATCCCACTTACATGAACCTGTCAAAAAATTCTGTTTACTTCTCTTCTGGATGCTTCAGGGCCCTCTGTAGCATACAAAAGGTAGGGTTCAGGAGAGACAATTTTGAATGTGAAGTTTGATTTTGGGAAGCCTGTCAAATGTTACAGGTTTAAAACACTTGATAGTGTGAAATACAATTCCAGGTAACACATAAGTTATTTATTTTGGCAAAAGGATGACTCAGAAATTTTAAAACTAGGCAACATCCTTTACTCCTTAAGAGGGAGGACTTCGCTTTCCAAACAGTTTGTCTCCTGTCTACTCTTTTCTCTCTTTGGCAGTCTCCCAACAAGGCAAACAAAATATTTCATTATTCTTCTCTATTACATGAAAAATCTGTACAAGGGAAAGAAAGCCAAATTTTACCCTTACATTGGTTTCAAAATAATCCTTTTTCATTGGCAAGGTTTATATTTTATGCCTTTTTATAATCTTTTATGACAAACACATTTTACTGTTCTTACACACCTTGCAGGTAAATTTATTTTTAGTTGTCTTATTTACATGTTTTAATGGTAAATCTTACCAATTTTAACGTTAATATAAAACCTGGTAAGTTGTTTTAATTATGTACTAGATGCAGATAAAGTCTGATTTTTCCATCATATTTAGGGGCATGGTTAATTTCATATGTCCCCAGGCCTTACCAAGTTGTAAGGTAGGTAGCATACAACCTTGAAACATTTAGCAAACCTGGTATCTAACTTACATGATTTAAACTTTCTATTTACATTTTGATGACATTTGCATTGTACCAATTTCATCTTTAAAACAATTACTATTTCTTAGAGGTTAAAGTCCCATAAACTAAAAGGCATTAGAGTTTTAACTTTCCTCTAAAATATTTGATTTAAGTGCTTATTTTTATTTAAGGCAATCAATTAGAGCTCATTAGAGACATCACACACAACACATATATCACTACACAGGCAAACAGAAGAAGATCCAGTAGTTCTAAGATTTTTTTCTTGTCCCATTTCCTAATTGAATTATTAGCTTTCCAGTGGAGCCCTTTAAGAGCAAGGATAGAAAACCATGAAGTTTCTAGGGCCTAATCAACTTGTATAGCTGTAAGACAAAAGCAGATTTTGAGTGGAATCTATCTATGAGCCTCTAAATTCTGGTATTCCATGAGGAAAACAGAGGTTTCTCCCAAAATGGAACCCATCATGCCTTTTCTGTTTTTCCCAAGAAGTATCAGGCCAGCAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAAAACAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAACACAAAAGTTCTTTTCAAGAAAAACACAATCCAAGAAGAGAAAAACATAAAGGCCTTTTAAATATACCTATAACATGAATATCCACTTTTAATCAAGCTGAGCATTCTTTAAGAAAATCATTTGAAATATGCTGTTACCTGACTTTAGCTAAATCAAGCAGGTAATATTTCTGGCTTTTGACTTTACCAAAAGTAATATCAAAGGTGAAACAACAACTCTCAATTAGGTTATAAGTTAACCACGAGTATACAAGATATCTTATAAGTGGTGGTAAGCAGCTTTTACCAGATCTAGAACCTTTAAAGTCAATTCAGAGAAAAGAAGATTTCAGAAAGGAAGTTAGAGTTGTTCATGGAGGAGGAAGAGAAGATTAAAAGTCACACAGCTATTAACTTGTAAGTATTCATTACCCAAACCAGGAGCGAACCCGGGCCACCATTATAAAAAGGCAATGGCTAAAAAGAAGTACTGCCACATTGTTACAGGTTATGGTCAAGGACATAAAACAAGATGGAGACTTGCAGCAAAGTTTGTTACTAACCAGTTTACAGGGGTGACTTGAACAGTGAGCTTACGGAGTCCCAGGCCTGGATTCCGTTCCAAGGTACCCTCTCTCTGATTGTTTCTTGTATTTTCTCTCCTTTTTCTGAGACTCCTCCTAGTACCTGTTATGAAAGACTGGGGTGGCTACTCTTAGAAGGTTTTTTAAGGTGCCATCTGGTTCTATAGCCTGTTTCTGTAGCTTCCTTCAAATATCAGGAGCTGCTTGAGTAAACCTGTCTTTCAAGATGAGCTGTCCCTCAATTGAATTACGAGATAGGGAAGCATGTTTTGCCAAAGTCTCTCTCAGCCTTTATAAAAAGGCTGAGGGATTTTCATCTGGGTTTTGATCTATCATGGATAGCTTAGAGTAGTTAACAGGTTTGGCTCTGGTCCCCTGTAAGACTTCTACCGTATACATCTGAAAGTGTTTCTATTTTTCAATCATCTATGGGCTTAGTAGGGTTCCAATTAGAGTTTTCAAGGGATACTGCCTCTTTTCCTACTGGGAATGGGGATTCTGCCTGTTTCTCACCCTCTTTCCCTTTTTGACTGGCTATAGGAAACATGCTGCTCATCTCTGATTTTTTCTGCTACCTGTAGGGCTGCCTGTCTCTCAACAGCAGTTAGGGTTTCAGAGTAACATAACATCCTTCTAGGAGAGTTTAAATACTTGGGTTATATCCTGGAAGGCCTCTATACATGAGAGAAGTTGGCACTTGCCCAGAGCGAACTTCAGGCTCTGAAGTCTAAAGAATAACTCAAGGGGAATGCAGGCTTGAAGATGGGGTGTTACCCATGCATAAAAAGAGGGGAGTAGAAGGTGTCCCTTAGTCTCCTTTCAACTTTTGAAGTGACCCAGGTTGAAGAGAAAGATTACAGGGGTGTCCCTCTTCTCTTTCCTCCCATCTCCTTTGGGTCCTGGCAACCATCATAGGTGCAGCCCATGGATGCAAGCATGAATTGCACCCATGTATCTGGAGGTGCTAGTTGGCAGGGGTAGTCATGCTTACCAGCACAATGCCTCATCTCACTGCCCTTCTGGGTTCCTAGGCCTCCCAGGAGATTGTACAGTAGATAAAGTTGGGTGAGACACTTTAACAGAGGGAGTGTTTTAACCCTATTCCTGCTTCCTCTAGCTATGGCCCTGGAAAAGCAGTGCATTCCCAGAAAATTTTACCCATTGCCTTTTAAACACAAAATCCCCTTTCTGATTAAATGCCAATGTTGTTGGAAGCAGAACAGGTGCCTCAAAAGAACATATGGATTTAATGGCTGTCCTCCTTCTGATGGGAACAGCACTGAGGCTAGAATTTGTCTCTCAAGGGTGGCTTCCTCCCAACTGTTGAATGCGGAGTTTTTTTCCCTACAAATGGGGCATAGAGTCTGCTTGCTGACAGAGGAACACAAAAGTGGAAGAAATCTGGGTATTAGAGGTTTTTGGCAAAGGGCCAACAAGACTCTATGCAGAAAAAAATCCTATCTCATGAGGTGGTGCTGTAGGTTTTGAAAATTTAGGTAAAATCTGTGACTCTAAATTTCTTCCAGGCAGAAGCTAGAAAGAGAGGTTTGAGGTTTAACAGACTGTCACTATATATGCCTCCCAGCTGTAGAAAATTAACTTGTCTCATTAATAAACTGTTCAAATTCATTTAGCAGTGGTGAGCTTTTACATGAAGGAAAAGCAACTAAAATGGAGAGGGATGAGGGTATTCACTCGGGATGAAATATCTTTTCATAGAGTACCATGAATGACTGTTATTGTGGGACAAAAAGCACTTACTGGGTGAAGGTTTAGACTGAAATCTTGAAATCCCCTGGTATTTTGAGTTTCTGCTTAGCCTTTCCAAAGGAATAAAATCAGATATGTATCTATCTCAGTGAGCAGAGGAGTGACTTTGAGTAGAATGGGAGGAAGGTTTGTCCTAGGCAGTTTCCCGCTTGAATTTTCCCTAGTGATTTCAGGGGCCCAGTATATTGTCCTTTCACACATCTGACAAGTAATTGATAACCAGAATATCTAAGCAGCTCAAACAATTCTAGAGGAAACATATCTAATAGTTGGATCAAAAAGTGGGCAAAAGATTTAAATAGACATTTCTCAAAAGCAGACAGACATATGGCAAACAAGCAAATGAAAATGTGCTCAACATCATCGATCAGAGAAATACAAATAATAACTACAATGAGATATTATCTCACCCCAGTTAAAATGGCTTTTATATAAAGACAGGCAATAAGGATTGCTGGTGAGGATGTGGAGTAAAGTGAACCATCATACACTTTTTATGGTTATGTAAATTAGTACAGCTGCTATGGAAAACAGTTTGGAGGTTCATCAAAAAACTAAAAATAGAGCTATGATGTGATCCAGCAATCTCACAGCTAGGTATATACCCAAAAGTAAGAAAATCAGTATATTGAAATGATATCTGCACTCCCATGTTTATTCCAGCCCTGTTCACAATAGCTAAGACTTGGAAACAACCTAAATATCCATCAACAGATGAATGGATAAAGAAAATGTGGTACATACATACAATGGAGTACTATTCAGCTATAAAAAAAAATGAGATCCTGTCATTTGCAACAACATAGATGGAACTGTACATTATTATGTGAAGTAAAATAAGCCAGGCCCAGAAAGACAAACATCACATGTTCTCATTTATTTGTGGGAGCTAGAAATACAAACAGTGGAACTCATGGTCATAAAGAGTAGAAAGATGGTTACTAGAGGCTGAGAAGGGTGGATGGGAAGCAAGTGGGAATGTTCAATGGGTATAGAAAACAGAAGAATGAAAAAGACCTAGTATTTGACAGCACAACAGGGTGACTATAGTCAATAACAACTTAATTGTGCATTTTAAAATAAATAAAAGAATATAATTGGATTGTAACATAAAGGATAAATGCTTGTGGTGATGGATAACCCATTTACCCTAATGTTATTATTACACATTGTCTGCCTGTATCAAAATATGACACATGCCCTGTAAGTTTATACACCTGCAATGTACCAACAACAATTAAAAATTTAAAAAGGTGTATCCTTCCCAGTGAACCAAAATATTTTACATTGATAACTTTTAAGTTATCATAGTGTGTTGGAATAATCACAGCTTTGGAAAGAAAAAAATTATAGATATAAACTTTCAAAGATGGCAGGAGATATAGATCTCTCTTTAGTGGATTAAAATATGCCATTTGTTATTAACATCACACTGAGATTTTTTAACACAGGACATCTTCTGGAAATGATATGATTATAGGAGTTATAGGAAAAAGCGTTTTTTCATACTGTGATTACCTATGCTATGAAGAAAGGAGATATTTCCTCTATGATGTCTAATTTAGCATAATTATTGTTTTTAAACTATATTTAGATTTAATTAAGAGATACACAAACAAATTACTTTTAGTAGTAAGAAGATTTTTAAAAATTTTTTGTGTAAGATGACTATGTAGTAAAGAAGGTTACAAACTTACTTTTTAACGTAGAAAAATAATCTCACCTTCTTGCCCCATGGAAAATTGAAATGTTATGTGGAACCCAGTGTAGAAAAACTCTCAGTGAGGTTTTCTGTCTTAAGTTTCAGTGGATTGAGGTGAGATCAACGCCTGTTCCACCTTTTTCCTCCCTGTCCTAGCAGGCTTGAAAACATTTATACAGCCATAAAATGTTGCCTTTAAATTCAAGTATAGAAAATAAAATTTAAAATGTGATATTTTTATATATTTTATTTTAATATCTTACATGGGAAATGTTTTTGAAATGTTAAAAAATTAAAATTTTTAAAAGAGTACTGTGAAATAATCTAATCACATGTGGAAATTTTGTTACTATTTCCCCAAGCATTTTTGGTACATTTAATGAGTTGAATGTAACTCATAAGTAGATAAAAATGTTTAATATTTAATTTTCTGCTGCAATAATGTTACAAAACAACCTTAAATTCTCAGTAACGTTAAACAACATATTTTTTTCTCCCAAATTTCCAGGTTATTTAAGGGCAGTTCTGCTTCATATTGCAGTTTGCCTGGGCTTTACTCCAGGCTGTGTGTTGGAGTTAGGTCTAATATATTGTATCCCTACGTATCCCAGTTAGAAAGCCTAACAGATTTCTTTGTACTTCAGTCAGCTCGATTGTATTTGTCATTCAAAAGCCAAAGCATTTATCCTAACACCAATTGCTTCTTTTTTTTTTTTAGATGGAGTTTCACTCTTGTTGCCCAGGCTGTGGTGCAATGGCACGATCCTGGCTCACTGCAATTTCCGCTTCCCGGGTTCAAGGGATCCTGAGATGGGGTTTCTTCGTGTTAATCAGGCTGGTCTCAAACTCTCGACCTCAGTTGATACGTCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCCAGCCTAACTGACTGCTTCTTTTGTTCTGTAGTCTTTCTCCAAAACTGTTTTTCTCTGTACTCACTTTCACCTTCTCTCACACATATATGTCCCTCATGTCCCTTTATGTCTCCAGGGTCTTCTATTTCCACGTAATCTTAATTGTTCATCATATCCTGGACTCATGAGTAATTAATCTGTTATTCTCCCTGAAAGTGCAGCCTTGTTGAATAGAATGTGTTCTTTAAAGAGCAGCTTTGTTTCTCGAGTGAGGTATTAACTTCCAGATTTAAGTGAAAATGAGTTCCAAGTTTTATGTTTCATTGTGTGTCTAAGACTGACACCGTTTATTACTGTGGCACTTACAGCTTGCTTTCAATGCCTCCAAATTCTCTATCTGAAGGGCTGGGTACCATATCTCATGTCTGAACATATTCCTCAGAATCATGCAGTACCAGCTATGTTCCTTCTTTATATTATGGCTCCTGAGGTGCCTGTTAAGCAGCCAGGTGAAATTGCCTTTTAATCAGTATAGGAACAGTCTCTTTCCTGCTGATGCTAATGCTTTTTGTAAAAAGGTCATGCTGTATTGAAGTTCTTCTTTCACGGCAAAACCACTAATGGAACTCATCTACTTACTGATGGGTGGAAGCTCTTTGTATGCCAAAGTCTTGTTTTGTTTGTGAAGAATCTCTTTCCCTCAACAGTGATGTGCTACGTTAGGTCTCAAATCATTGTTGCTTTTTAATCCAAATTTATGACAAAGATTTTCAGTTTGTATGCATAATTTCCTTCTCTGGCCTTAACCATCAGTCTGTGGACTTGCCAAGCAACAACCACAAGAACAACAAGTCTGAGGTCAAGAGACACTATTTAGATCTCAGAATCATTTGTTGTCCTTTATCCTTTGACAAAGTTTTGCCTTTCTTTCTTTATGAGATTTTTTCCCTAATGGTTTCTCAATCTCTTGAGAAGAAGAAAGTTCTTGACTCTTGCAGTCTTTCTCATTAGTTGAATTATACCATCAGTACAGCTTCTGATCATGTCGAGAAATCCACCATGAAGAAATAAAACATTTCCGATTACATGGATTACGTTTCTTGGATTCTTATAGGCATTAAACTTCATTCTAGGATACAACCTCATGATCTTGTCTTATTCTCAGAACAAGAAATATATTACTATATACATTACAATATATATATATTGCAGTTTCCTTGCTATATATATATATATATGTATGTATTATAGTAAACCCTGTAGGCAAGCAGGAACACTTCAGAAGTCTCAATGAATCCATCATTAGCTGTTAGTAATGACAACACTGTTAGAATTATTTCAATAATCACACATTGTTATGGTCTGAATGTGCACCCCCAAATGTAATATGTTGAAATTTTAACACCTGAGGGCATAGTATTAGGAACTTGGGAGTGGAACTCTTTTTAGTGCTATTATGAATAAGATGCTTGCCTTTTCCAGCAAATGAGGACACAGCCACAAGCTGCCCTCTAGGAACTATGAAGTTAGTCTTCACCAGACACAAAATCTGCTTGATTTTGAATTTAGCCTCCCGAACTGTGGAAAATAAATTTCTGCTTTTATAAGCCACTCAATTTATGGTATTTGGTTATTGTATCCCAAACAGACTAAAACACACATTATTTACCTCCTTTTTGGACTGTCTGGGGTTGTTGCTTTAAACTTGCTTCAGTGCCTAGAACTGCTCCAAGCTCCCTGTCCTCTGGCACACACGTATAAATAATTCTGCTGGAAACCGACATGTTTCACTCAGTCATCCAAATGTATTTATAATGTTGTCCAAATATATAGCACTTGTTACAATGTTTACATTTTAGACATATTTTGAGATATGTGCCTTAACAGAGTGCTGTGATTATTATTAATATTTAGTAACTTATCTTACCAGACCTAAACTCAAAGTTTTTCACAATGGCAATGCCTTATTTGGGACTTATTTGGGACTGAATGTATGAAGATCTTACATTGAGTCCAAATTGATTTCTCTGTTAGTCTCGCAATAACATTAAAGCCACAGAATTATCTGCTGTATATTTCTTGTCTTGTTGTAGCTGATATTCTACATATTAGGACAATTAGGACATTAGTAATATCTATTAACCTTAGAATAAAATGTCATATTGAAATTGAAGAGGAATATTGGAACTTTGCTAAGAAAGAATGCTTTTCACACACAATGATATCTAAAATGGAGCCTCTGTTCCTGGAGGTATATTTTACAAAAATTCAGTGTTACTATAGGAATTCTGTACACTTCTTTCTTAGACATTTGTATTCCATCAGTGTCAGTCCTCTCTGTATTTTAAACTAAATAGGATTTCTTTTTCCATCTTTCTGTTTGACAAGTATTGTTTTGCTGAAAATTTGCTATTCATGTTCTTTTAACTCATTAGAAAGAATATTTAGGGTCTTTAGTGACAAATGACATGGTATAAATGAAAAGAAAACACTGACATTGTAATTGAGAAATACTAATTAATTAGGAGAATATTATTTAAAAACATTGTTTAAATATTTCTTTGTTTTATTATTATTATACTTTAAGTTTTAGGTTACATGTGCACAATGTGCAGGTTAGTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATCTCCTAATGCTAAACCCTCCCCCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAATATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTACTGAGAATGATGATTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTATATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTACCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGAGTACATAGCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGATGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCCTACAATGAACTCAAACAAATTTACAAGAAATAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAAACATTGTTTAAATATTTCTATCACAAATTGACAGCAGTACAATGCACACCACCAGCAATGTATAATTCTAGATATGAGAGGTAAAAAGATAAAACAGGTATTGCATTTTCTCCAGAAAACTTATCATTTAGTGGAAACTGGCCAATAATTTCTTAGGCCTTAGGATAATTTTACCTTTGATTCTCTAGTTAATCCAAAATATATAAAAATATTAACCAAAAGTATATATTTTTAAAATGCCTACATAATCTAATGCAGTATTTTTTGCTCTCTTCTTGAAGTGAATTAAATTCCTTATCACTGACCATAAAATTGAACTCCATTGATGATTCTTATTTAAAATAGTTAAAAGTGAATGTAAAGATCAGTTGTGGTTTTCCTTTTCTTACCCTTGTTTTTACACTTATATTTGCCTGTGTCATTCACACACTTTTAGAATTCAAAACAATAACTAGAAATGTAATCATTTGCTTTTCAAAAGCTTTTCGCATCTTTCCAAAGTTAATATAAAGTCTTACAAAACTTTTAGCTAATTCACAAAAAAATCAAACATATATAGTTGAAGCAATTTTTTTTTTTTGGTAGATTTCTTCAAACCACAGAAATTTCAGTTATGGCATGGTAGGTCTTTTGAAATGTTTCATTTTTTGTATTTGAAGATGCAGAGCAAAAGTATTTCCACTCCAACTCCCCTTTAATAAAAATTGAATGTAACAAAAAAATCAAAATCTATAGGAAAATAACCCCTTCATCTATGTTAAAACTATGAGATTTCCAGCCCAAATAAGTTATAAGAACCAGTATAGAGTCCAGGCTCGGTGGCTCACGTCTGTAATCCCGGCACTTTCGGAGGCTGAGGCCGGAGGATCATGAGTTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCCCATACCTGGGAGGCGGAGTTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGAGATAGAGTGACACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACCAGTATAGAAATACTAATACAGTAAAAGGTGGACTTATATATAAAGAAAATAACCAACAGATTTTGTCTATGGCACAAACTTCTTAGAAATTTTGAGGTCTTTAGCCTTAAAGACCTAATCAAATATTTATTACTTTGAACAGTGAGCTACTGGGATATGCTGGGCTTTGAGCCTATGTACAAATCTAATTTTAGAAGTCAGGACGTGTTGTAAGCAATAGCAAAGAATATGCTAGATGATCAGCTTGGCAATTGTTGAACAAACTTCATTCAGCAGTGTGAGGACGTAATTAAAGCAGTTGACCTTCAATCTATTCACTCTCTTTATTGGCAAATGGCCGAGGAATAAGACTAGAAGGAAGATGAACTGGTTTAGTCTCTTTGTCAGCTGAACTTGTGGTGAAAGAGACTACTGATATTTTCTAGGATGAAGAGATCTTATCTCTGAAATACCCTTTGCAGGTTGCTCCTGACTGAAACAAATTCACAGATTCTTTCTTCTCGCTCAATTTTGCTGTTGATTCTTCATTTTACATTCTTTATTTCATTTATTTTATGCTTTAGCTCTAGAATTTTAGTTTGGGTTCTATTTTTTCAATCTGTCTGTGGAACTTCTCAATTGGTTTGTGTTTTGTTTTTTTTCAAGTTTTGGTTGAATTGCCTATTTATTCTCTTGTAACTAATTACTCTCCTTTAAAACAATTATTTGACATGAAAAACCTTGCAAAAATACAAAAATCTATAAACTTCTTGACAAAGAATTCAAAATAATTATTTTAAAGAATTTCTGAATTTGCAGCAAAAGTTTGCTATAGAGCAACATGAAAGCACAGAAAAGTATGAAACTCATTGATTAAGGTAAATATATAAAAAATACAGAACACTCTAATAGTGTAGTAGTGGTGTGTAAATCAGTTTTATTGCTAGTATGAAGCTTAAAATCCAAAATAATAATAATTATAGCTACAATAATTTGTTAATAGATATAGAATATTAAAAATATATAATGTGACACCAAATATATAAAATATAGTGGGCTGAGTAAAAGTATAGAGTTTTGAATATGATCAAACCTCAGTTTAAAATAGTTTGCTCCAACTACAAGATAGTATGTATAAGCTTCATGCTATTCGGAAAGCAAAAACCTATAGTAGATACCCAAAAGACAAAGAGAAATCAAAGCATGTCACTACAGAAAATCATAAAATCTCAAAGAACGACAGCAAGGGAGAAATAAAGGAACAAAAATATGTTAAAAGGCTGAAAAGCAATGAACAAAATGTCAATTGTATGTTCTTATCTATCAATAATTACCTTGAAGATAAATTCATTCTATTCTACATTCAAAAGCCAGAGTGGCTGAATGGATTACAAAAGGAGACCCAACAATATACTGCCTACAAGAGACTCACTTCAGCTTCAAGGACACATATGGTGTGAATTTAGGGGATGAGAAAATTTGATATTCCATGCAAATTAAAACAAAAAAACAACATGGATAACTATCCTTATATCAGGCAAAATATACCTTAAGATAAAACTCTAACAGGTGATAAAGATGGTCACTATATAATGATAAAGGGATGAGTTGATTAAAGGGATGAAACAATTATAAATAAATATGCACTTAACATTAGAGCACTTGAAAATGTAAAGCAAACATTAATATCTGGAGGGAGAGATACAGAGCAATCAATAATACTACAGATATAGGTAACCTTATTGACACTGTTGAAATTATCAATACTCCAATTACAACAATGGATAGATCATTTAGACAGACAATCTGTAAGGAAAAAAAAATTAGACTTGATCTGCACTTTAGACCAAACGGACCTAACAGATGTATGTTCACATTTCATCCACAGCCGGAGAACAGGTGTTCTTTTCAAGCTAACAAGAAACATCCTCTAAAATAGAGCATACTTGAAGTCACAAAATGTCTTAATACATTTAAGAAGATTGAAATTTTATCAAGTATCTCTTTTGACCACAATGGTATACAACTAGAAATCAATTAACAGGAGGAAAACTGGAAAATTCAAAAAGAAGTGAACATAACACAATTCTTAAAAACTGGTGGTTTAAAAAGGAAATAAAAAGGAAAATAAAGAAATCTTGATACAAAAATGAAAACACAATACACCAAAGCTTGTGGGATGCAGTAAGACAGTGCTAAGATGAAAATTTGAAATGACAAACACCTACATTAAAAAAAACACAAATATTTCAAATAAACAATCTATCATTAAACCTCAAGGAACTAGAAAAAAAGAAGAGCAAACTAAGCCCAAAGTTAATAGAAGAAAGAAAATAAGAAAGATCAAAGCAAAATAGAGAAATAGAGAGTAGAAAAGTAATAGAAATTGAAAGACATTCTGTGTTCATCAATGTGAGAAATTAATATTGTCAAAATGCTATTACACAAAGCAATCTACAGATTCAATGTAATCCCTATCAAAAGTCCAATGGCATTTTTCCAGAAACAGAAATAAATCCTAAAATTTGTATGAAATTACAAAAGACTATAATTACCCAAACTGATCTTGAGCAAGACGAACAAAGTAGGAGGTACCACACTTCTCACTTTCAAGTTATATTACTAAACTACAGTAATATATATATATATATATGATACTGGTATGAAAACAGTCACATAGAAGAATGGAGCAGAATAGAAAGCCTACACCAATATCGTCAAAGAATCTTCAATAACATGCCCAAAACACCTAATGGAGACAGGATAGTCTCTTCAATAAATAGCGTTGGAATTATTGGAGGCCCACATGCAAAAGAATGAAATTGGAGTGTTATGCTATGCACAGGAATAAATTGAAAATTGAAAAGGAATTTAAACATAACATCTGAAACCAAAGAATCCCTAGAAGAAAACAGGGGAAATCCTCCATAACATTGACCTTGGCATGATATTTTGGCTATGAATCCCAATGTATAGACAAGATAAACAAAAATAAACACATACAACTACATCAAACTAAAAGATTGTGGCACAGTAAATAAATAAATAAATAAATAAATAAATAAAAAGTCACCCATGGAATGGTAGAATGTACTTGAAAACAATATATCTGATAATGCATTAATATCTAAAACATATAAGAAACTCATAATCAGAAAAAAAGTAACCTGATTAAAACATGAGCAAGAGACCTGAATAGACATTTTTTCAAAGGAAGATTTACACACGGCCAACACATGAATGAAGAGGTGCACAAAATCACTAAACATGAGGGAAATATAAACTGGAATCAAAATGAGATGTCACATTACATCTTTCAAAATAGCTAATATCAAAAAGGCAAAAGATAAATAGTGTTGACAAGAATGTGTCGAAAAGAGAACCCTTATAGAGTTTTGGTGGGAATGTAAATTGGTACAACCATTATGGAATACAGCATGGACACTCCTCAAATAATTAAAGATGTACCGTATGTTACAGAAATTATACTTTTAGGCATAAAAGTATATACCTGTGGGTGTGTTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTGAGGGAGGCAGATTACCTGAGGTCAGGAGTTCACGACCAGAGTCGCCAACATGGCAAAACCGCATCTCTACTAAAAAACACAGAAATTAGCCCAGCGTGGTGGTTGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCAGGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGCCATGAGTCAAGATTGCATCACTGCACTCCAGCATGGGCATCAGAGTGAGACTCCATCTCAAAAAAAGGGTATATACCTTTTATATACTTTTCCTTTTATATACGATAGAAATAAAATCACTATCTTGAAGAGATATCTGCATTCCTGTGTTCATTGCAGCTTTATTCACAAAAACCAAAATATGGAAACAATCTAAGTGTTGACAGATGAGTAGGTATGTAAATTATGATATCTATCATCTATCTGTCTATTTATCTATCTATCTATCTACAACGGAATATTATTCCGTATTTAAAAGAATGAAATTCTGCCATTTCCAACAAAATGAACGAGCCTAGAGGATATTATGCCAAGTGAAATAAGCCAGGCAGAGAATGAAAAATACTACAGGTACAACAATGAAAACTTGCCATTATAAGATGAATAAGTTATGGAGGTCTAATGCACAACAGGGTAAAAATAGTTAGTAATAATGTATGCTTTAAGTTCACTGAGTGTAGATCTTAACTATTACCCTTTCCCAACACATGATAACTATGTGAAGACATGAATATGTTAATTAGCTTGATTGTGAAAGTCCTTTTAAAATATACTTGATGGGCGCAGGGTGAGAGGAGAGTGAGGGTCAAAACACTACCTGCTGGGGACTATGCTCACTAGCTGGGTGATGAAATCATTTGTACACCAAACCCCAGCAACATGCAATTACCCACGTAACAAACCTGCCCATGTACCTCCTGAACCTAAAATAGAAGTTGAGAAAAGAAAAAAAAAGATATCAATTTCCTATAAGGAGCTCCAGGTTTGTTCCAAACAGTAGCGAGACAAACAGATCAAGGATGAAATATATAAAATAGTAGGCAAAACGTAAACAACATGTGTAAGGCAATCGATTCTATATAACTCAGCAACTCCTAGGGTTCTTATCAAATAAAATCACTGATGTGTCATAACTTCTAAACTAAAAACAACACAAATGCCCATTCACAGTAGAATGAATAAATAAATTACTTTTGCTTCCCGCGATGAATACCACACAGCAATTAAACAATGAACTGCTGCTACACAAAACATAGATGATTCTCACAAATTTCAACTGAGTGAAACAAGTCAGACTCAAAAGATTACATACAGCAAGTTTCCATTTATATGAAATTGAGGAGTAGGGAAATCCATCGTGATAGATTTCATGATAATGATGACCATTGGTGAGTAACTGGTTGAGAAAGTGCGAGAGCCAGGGGTGTGGGAGCTGGAAATCGTCCATATCTTGCTTGATTTGGGTGGTGGTGATAGGGATATATACACTTATAAAAATTATAATGCTATATGCTTAAGATTTATGTATTTTACTATTTGTAAGATATATATTAGTTGAAAAAATGCTTCAGTGTAAAGGAAACCAGTAAAAATACGCTACCTACAATTGTAGCTTTTGTTTATCAAAAAAGCATTTGAGTAGTCTATTGATTGGTAATTAGCAAGTTTATGTTAAGCAGCCTTGTCCTGAATACTTTTTAGTATGTACCATTAAGCATTTGCCTTTCTCAACTAGGGCTAATTAAAAAAAACTCAAAACCTCACATTGTACACGTTGAATATATATAATTTTAATTTGTGAATTATACCACCATAAAACTAAAAATCTAATTAAGTTGAGTTTGAATACATTTTAGGGAAAATACGATAAAGAAAATTAGGAGCTTAAGAATATGCATAGATAAAAAATAAACTTGATAGAAATATTATTTATATATTATATATTATGTATATTTATATATATTTATATATAATATATAAATAATAATATATATATAAATAATACTATATGTATTTCAGAAAATCATATAAAAAGCTGTGCTAAAATTTTCCAGAGAGAGAGTAAATAGTTCTCCTGTAGTGGATTAAAATGAGATTAGCATTGGAGTACTAGCGTAATACAACAGATAGAGTCTGAAGTCAGATCTCAAAAATACAATATATTTGCTAAGTAATGCGAGACAAGCTATTTAAAGTTTTTGGACCTAAATATCCAGTCTGTAAGTTTGTTGGAAAAAATAAATACGCTAATAGAGAACTTAACTTACAGGGAGTGCTAAATTATTACCTGTTACTGGAAAACATAATATCAGTGACATTAAAAGCTTGAGTGTTGTAGAACAATATTTTGAAATATCATTTTTTGAAGTTATATACATATTTATATTACTTTAATAATTTGCACAACATAGGAAGGAAAGCTTGCTTTGCACAGGCAACATTTTTGCCAAATAATCTTTAAATCATCATGAATTCTCAATTAGATTAACAATAATAAAATTTTATTGTAGAAGACTATTTTTTCATTAATATAGTTGTACATGCACATAGGGTAAATGTAATATTTTGTTACTTGCCTAAGCTTTATAATGATCAAATCAAAGTAACCAGGGTGTCCATAATCTCAAGTATTATTTCCATATGTTAAGAACATTTCAAGTCCTTTAGCTATTTTGGAATATACAATACATTGCTGTTTATATGTAGTCACCTTACTCTGCTATGAAATATTAGAACATATGTCTTCCAAGTAATTGTATGTTTGGACCTATTAACAAACTTTTCTTTATTCCTCCCACCCAGAGAAACTTTCCAGCCTCTGGTATCTATCTATAATTCTATTCTCTACCTCCATGAGATCAATATTTTTAGTTTTCATGTAAGAATAAGGATATGTGATACTTGTTTTTCTGTGCCTGGCTTATTTCACCCAACACAATGACTTCCAGTTCCATCCATCTTGCTGTAAATGATAAAATCTCATTCTTTTTTATGGACAAAAAGTATTCTACTGTGTATATATATACCATGTTGTTTTTATTCATTCATCCATTGATGGACAGAGGTTGATTTCATATCTTTGCTATTGTGAATATTGCAATAAATATGAGAGTGTGGTTATCTCTTTGATATACTCATTTATTTACCTTTGGACAAATAGCTAGTAATAAATAGCTTGCACCTCTGGTCTCAGCTACTTGGGAGACTAAAGCAAGGGGATCACTTGAGCCCCCGAGGTTGAGGTTGCAGTGAGCCATGATCACTCCACTGCATTCTAGCTTGGTTGACAGAGTGAGAACCTCTCCCTCCTAAAAAAATCCTTAAGAAATGTGTTGATGCCTGGTTCCCTTGGTCAGAATTTTCATTTGATGTGTTGAGAGTGTAGCACAGATGTTGGAATGAACCTCTCAAGCTGATTTTAATGTGCAACCAAGTTTGAGAACCACCAAGGAAGAGTTTTTATGAATTAAGATTCCTATACTCTATCCTAGAACTAATACAACTGAATCTCTGGGAATGGAGTATCAGAATCAGATTTGAAAAGGTTTCCTTAGTAATTCTAAGGACTGAGCAGTTTGGATACTCGTTTGTTAGAGTAAAATGGTTAGGTACCTAGTATCAACATAGGCACCCAACCTGATATTAATAACTAGGAAAATAAAGGGTTGGCGCCTCTGTGTTTCTTTGTTGAAAAATCTGATACTATTCTTAGTTCTATGAAAACAATTGAAAATTTGGTTATTATCACCTTAAAAGTACAAAACCTATAGATATTGAAAATGTAATTATTTTTCTATAGGCATAGTTGAAATGATTTTGTAAATGTTATAAATCAGTTTCTTTATAAGCAGTTCATTTACATAAATTTTGTTAAACTGACATGATTCACTAATTTTCTAAATATAAATGGTTCAGCTCTCAGTTATTTTTAAACTAATGACCTGTGTTATACTTACTATTTTTAATGGGCTTTTATGATGTTTTTAGGTTTCTTTGGATTCCCATGTCCTTCAAGTGCTTTGCAACTTTGAGAAGAAGAAATTGACCACCTGGACTATGGAACTGTGCATAACAGCTTTGAAAGTGTATTTAAAAATTAAATCCATACGCCTTTAAATCAGTAAATTGGAAATATATTACATGTATTGTAATGACTTTCCTCAGATATAATAAATTGTTTTCTTTCCAATGGAATAGTGTTTGCATTTTTTGTTTACCTGGTTTAAGATGTGCAGCAGAACATAACTAGATGATTACATAATTTCTTTTTAAGGCAATTTTATAATATATTTTATTTATGATTATAAAAACTGCCTTTAAAAATTCTTACATGGATATCAATGCAGTTTCACTTTTTTTATTGTAATCTTTTTTATAATTATTTTATACTTGTCTGGCATTGAGTTTTATTGGGCTTTTGGTTTTTTGGAAGTAGGGTATTTATCCCAATTTAGAAAATTTGTATCCTTGCCATAATACAGTCTTCCATTTTTGTACCCCCAAATCTTTCATCTGTCAGAACATCACTCAAAGGTGAAAATATTTCCCACATAAAATTATTCTGTTCCTTTAATGAAATGAGTTTCAGCTGTATATAAGTAGGAAAACTTCCTTTTGTTCTATTTGATTCCTTTTTACGGATACTTTCTTGAGGCTGTGATTACACCTTTACCTTAGAGGCACTGCCCAAAAAGACTCAGCTCTTCTGTAAAAATGCTGTTATGAATCATAGCTTCTTAACTTTTACAACATAGTGAGGTAGGGAAAGTAAGAACACTAGAGATAGGAATTAGAAGCATGGAGAAGTGAACCCTGGAGCTTCCCAATGGTGAGATACCAAATAGTTCAAGAACTAGTAAAGAAGACTACGGAGGAATAGCTAGAAGCTAAATGAAGAAAGTATCTCAAACAGGAAGGAGTGATCTGTTAATGTGTTAGGAAAGTTGAGTTCTTAGGATTAAGCATTGGGTAGAGCAAGATTTGGGACCTTGACTTTGACGAACTTGGTGGATGTCAGGAGTAAGAGGAGGTATTCAAGAGAATGTTGGAGAGGAATTTAATATAGTGAGTATTGAGGACAACACTTAAGGAGTCTTGCTTTCAAGGGGATGTGAGAAATGGGTTGTTAATGGAGGGTAATGTAGTATCAAAAAGCTGTTTATTTTGAGATCGATGATATAGTAGGTTTGTATGCTAATGGGACTGATTCAGTAGACAGAAAAAGCATAATGCAGGAAACAGAGGGATATTGCTGAAGCCATAGACCTGGGACACAAATAGAAGGGTTAGTTTTAAAGATAGGCCCACAAACAGCTCATTAGTAACAGCAGGATGAAGGGCAGATTATGGAGTTCCAGATGTTTGTAGTCCAGTAGATAGGAGGAGCATGTCAAATTTTTGTGATATTTTCTCAGTGAAACAGGAAGCAAGCTCATAAAGAGGGAGGAAGTCACGAAGGAGTAAGGAAGGAAAAGGAGATGTAAAATGAATAGATAGGAGTGTAGGAAAGTAAGCATACTCTTAGGAAATCTGTGGTTTATTTAAGTGGTATCAGTCAATGTGGTTCTGTGTTTTTCTCCAGTTGAGTTCAGCATAGGTGCTATCACTGAAAAAGTACAGAATTCAGTTTAACTAAAGGTGAGATTTCTCTAGGTGAATAAAACAGTCAGTGATGAGATGTTGATACATTTAAGAGAATGATTATAAAAGAGGGATGTGGAAAGTAGTCTGGGTTAAGTAGTGAAGTGAGAAAATAAAGAAGGTTGAGACAGTGGAAAATGGAATGATCAATTGTAGATTGCAGTGTGGTTGAAGATGCAATGGACTTCTTGAGGTGGGAACTAGAAATTTGGGGGATATAAATAAGAGAGGGGTGACTGAAATTGAAAATATGAGAGTATAATAGTATACAATATTACTAAGTATGGTATACTAAGTATAGTAGAATAGTACTAAGTATAGTAGAATAGTACTAAGTATATAGTACTTAGTGAGTATAAGTTTTAGGATGTGAAGAGGGGAGTAGCGTAGAGGCAAGGTGATGGAAGCAGATGAGTTCAAGAAAATGAGAACCTAGGAGATTGAAACCATTATCTAAATGAATTCTGAAATCTCAAGAAGAACTGTGCTGAGTGCTTGTAGTCATTATTTTGTCTTTACTACTCTGTGAGAAGACAGCACTTCCTTTTGTGAGTAATGGAAAGTTCTTTAATATGTCAACTGTAAGATACTTTATTACATTTAATTATCTTTAGTAATGCATAGTAATAACTAATGACCTCAGTAGGATTATTCAGTAGATATGTGAGCTAACCCCCTGTGTCAGACACCTAAGAGGAACAACTGATGTTTTTCAAGACGAATAGAGGGTTCTCATCCCAGGGTTTTAAGCTGCAAAATATCCCACCCTATATTTTCTGAAAACAAACGTTATATAGAGTGTCCACATAAAAGCTAACAGGAAATATTACACACACACACACACACACACACACACACACACACAGCATTGAAAATGCATCAGGAAAGATATACCCTGTACCCAACATGCACAAGGTCTAAGCAATGAAGAAAATCTAGGAAATCAAATAAGACCAGAACATCTATGACTAATATATAAATACTTGAGGCAGTTATATCCATTTAAAAGGTGTCAATTAGACATGAAAGAAAAAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAACGCAGGCGGATCAACGTGAGGTCAGGGGTTTGAGACCAGCTTGGCCAACAAGGTGAGACCCCGTCTCTACTAAAAATACAAAAAAAATTGCTGGTTATGGTTGCACGTGCCTGTGGTCCCATCTACTTAGGAGGCTGAGGTAGGAGAATCATCTGAACCCAGAGGTAGAGATTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCTTGGGTGATGGAGTAAGATTAAAATATATATATATACATTTTTACATAAGAAATTTTATTTTAATTTTTTTGTAAATTAGAAAATAGCAATTAATATGGTATTTATATACCAGAATCTTTGAATATCTAAAATTTAAGAAGATGTGAGCAATTTCATGAAACTTTTCAAAGCTTAGAAAAAGGTAGCTATGTAAAATAACAATGTATGTTGTTTATGGGAACATTAGATGAAGTAAGTCATGAAAACATGCATAGAAATGATCATATAAACTTGCAAGAAATTGAATGTCTTGCTATCAAAGGAAAGGATGGAGGTGTAAGAGACTGAGGTAGAATGTGAGAAGCTCTGTATATATTGTATTTTCCTTAAAAATATATATTTAAACTCGCATTTCTTGTTTTTCAAATGTTCACTCTAATGAAAATTCTTTTATTTTTCCTGTTACAGTTTTTATTTCTGATCTCATATATGCAGTGTACTGTTGTTCAGAAATATCATTGATCCTCCCTGCAAATGAAATACTCTCATCCTGTTGAATTTGAGAATGTACACATGATTTGCTTTGGCTTTGAAATGTGAGCAGAAAGAATGTTTTACTTTGGGGAGTTCCCAATTGCTAAACCATGTGTCAAAATGAAGTTTTTGTGACATTACAAATGGACTAATAAGAGTGCCTTTGTTGATCCTAGTTGAACATGAGAAACTTGGTTATTGTAAGCCACTGAAAAATTTTAGTTTCTTTTATTACTGCAGAATAGCCTATTCTGTCCTGATTGATACAGCCACAACATTTCCTTAAGCTCTTTGATTTTCATATTGCCATTAGGATGTAGAATGCCAAGAGAAGGATAAATCATAGGATCAGAGAATGTTAGCAGTGAACGAGACTATTGGAATACATTTTTTCAATGGTTTCCAGACTTTGGGTTCTAAGTAATCAGTAATATTTCGAAAAAGTAGTAAAAGATATTTCAATATAAAAAATAATGACATTTAACTTTGAAAAAAAAAACCTATCATTGCTAGGCATAATGGGTCTAGCTTGTAATCCCAACAACTTGGGAGGCTGAGGAGGGAGGATCACTTAAAGTCCAGGAGTTTGAGGCTGCAGTGAACCATGATTGCATCTCCACACTCCAGCCTGGGTGACATAGGGCCACCTCAACAACAACCACCACCAAAGCTATCATTAATACATTGTTCCTCTGTCTCTCTTCCCATCCTCCTTACCACTTAGTCTTAAATCTAATCTTATTAAACAATATCTAAGGAAAAGATAAGAAAAATGATGGTTGCATCTATACTGAACATGTGTTGACTTTTTTCTTGTCACTATTTTCTAAACAACACAGTATCACAACTTTTGACATAGCATTTATGTTGCATTAGTTATTATAAGTAATCTGAGATGATGTAAAGGTTATATGCAAATATTATATTTTATATAAAGGACTTGAGTAATTATTACTTTAAGTATCCATGGTGGTTCCTGGAACAAATTCCTCATGGATATGGAGGGAGGAGGAATCACTGTAATTAAACAAATCATCACTTTAAAACTTAAAACCTTTTGCATGTTGAATACAGTCATGCACCACATAAATGATGGTGGTCCCATTAAGTTTATTATGCCATATTTTTATCGGAAGTTTCCTATGTTTAAGTGTATTTAGATACACAAGTACACTGTGTTACAGTTGCCTATAGTATTCAGTAAAATAACATGCTTTACAGGTTTGTAGTCTAGGAGAAATAGGCTAAGCCATCTAGGTTAATGAAGTCCATTCTATGACATTTGCACAGTGGCTTAATTACCTAAGGGCTTTCTCTTCAGAACCTACTCTTGTCATTAAGCAATGCATGACTGTAGTTGGACAAAAAATAATAATGCAGGCATACCTTTGGCACTGTCCTAATTCTTACCAGCATCCATGATTGCTTAAATTTGCACTGGAAAGACTTCAAAAAACAGTGATATATTAGGACAATATATTTCCAGTACATGACAAATGATAACAACATAAGAACTCGAAACACTCAATAAAAAACAAAAAATAAAGCAAAACTAGATGGGAAAAGGAAGAAGCAAATTTCAAGAGAAAACTCAAAAGGCCAAAAAATGTGAAATGATGTTCAGCCTTGCTAGTAATTGGGAAAAACACAAATCATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCACGCTGGAGTGCATTGGCGTGATCTGGGCTCACTGCCAGCTCCACCTACCACCTTCAGGCCGCCATTCCCCTGCCTCAGGCTCCAGAGTAGCTGGGACTACAGGGGCCCACCACCATGCCTGGCTAGTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCGTCTCCTGACCTCGTGATCTGCCCGCCTCAGCTTCCGAAAGTGCTGGGATTACAGGAGTGAGACACGTGCCCGACCCAAATCATTTTTAATCTATTAGTCAAAAATTAGAGCTATGATAATATTAATTTTTGGTGGGAGTGTGGCAAAAGGTACTATAATATACTGCTACTAGAGAGTAAAAATTGATAAATTTTGTAAGGGCAATTTTGCACAATATGAAAATATAAAAATATGCTTCATGTTTACCATACATTTATCTAGCATACAGAATTACCCATGTGTAAACATGTATACAGATGTTCATTATAACACTTCTTATAAAAACAAAATATTTGGAAATAAATGTTCATATTAATAAGGCGCATACCGTATGATCTTAGTCCAGTTAGAATATTCTGTTTTATTTCAATCCTTTAAAAGACTCAACTTCTGACTCTATATAGACGATTAAAAAAAGAATGTGTTCTCCCTTTGTGCATTTGGTCAGGTAAATTAAAAAATACACCACATGCTAGCCGCACCAAACTGGAATAAGCCTTTGGAAAGAAGTTGTCCTTGAAGCTTGTATCTGACATTGTAGCAGGACGAGCCTCAGACAAAACCTCTCAGACACTGAGTTGTAGAAGGAAGGGCTTTATTCAGCTGGGAGCATCGGCCAGCTACTGTCTCAAAATCTGAGCTCCCGGAGTGCACAATTTCTGTCCTTTTTAAGGGCTCACAACACTAAAGATTTCACATGAAAGGGTCGTGATTGATTTGAGCAAGCAAGGGATACGTGACAAGGACTACATTCACTGCTGGTCAGGGAGAAACAGAACAGGGCAGGGAGTTTCACAGAGTTCTTTTATACAATGTCTGGAATCTGTGAATAATATCAGCTTCTAAATCATAAGTTGATTTTTAGCTACTGGGTTTAGGCCAATCAGGCCCAGGCCTGGTTTCAGGCCTGGCGCTGGGCTGCATGTCTTTGGTTGTACTTCCTGGTTGTTTTTACTGAATAGAAAACAATATAAAACAAGGAGAGGGTCTTTGTCTCCTCTCAATATCAGCACTGGATTGTAGAATGTGTTGCTGATTTTGACCTTGTATTCAAGTTAACTGTTGCCCTTGGTATCTGTACATATCTTTGATTTCAGTCTTTACTACACGTGGCTTGGTCACTTCATGGCTAAAAACATGCTTGTGGAAGACCAGTCTGGCTCGGTGAGTCTGTGCGGCCAGCAGTCTCTGATCTGTACAGGGTATTAATGTGTCAGGGCTGAGTGTTCTGGGATTTGTCTAGAGGCTGGTAAGGGCTTCTGGACCACTTGTTTCTGTCCTGTCAGTCTGTCAGGGTTGGAAAGTCCAAGCCATAGGACCCAGTTTCCTTTCTTAGCTTACGTTATCTACCAGAGCACCGTGGGCTGTTACTTACCTTGAGTTGGAAGGGGTTCGCATTTATACCTGTAAAAGTATTCATCCTTTTAATTTATGTAAAGTTTTTTTGTATGCCATTCTGGATCTTTAAAGAGATGACAACAAATTTTGGTTTTCTACTGTTATGTGAGAACATTAGGCCCCAGCAACAGGTCACTGTTTAAGGAAAAATAAAAGTGCTGCCAGAACCTAAGAAAAACATTAATATCTAAAAGGTCATTTAGATGATTTCCATGAGAGACTTTTTGATGTTCTTTACCTGTTAGGATTATTATTGATAATCCTTTTCAGATTATGAATAAACAGTTTGCCCTCAAGTATTTATTCA	GCTAATATTTACTTTGTAAAATGTGCTTCTTACAGGAATATAAATAGTTTCTGGAAAGGACACTGACAACTTCAAAGCAAAATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAATACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCTCTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTGGGTATGATTCATAGTATCAATTGCAGAATTCACTATGCTTGTAGTAAATAGTATTCTGATCTTATCCGTGAAGCTTAGGCAACATTTTACTTCACAGGTAAGTATTCTAAGTAAGAGTTTTCTGAGGAAAAAACAATGTAGTATTCTTGGCAACTTTATATTTTGTTTCTGAGATAATCTTTCTTCAACAAGAGCCCTCCAATGTGCTGTTAATATTTTCAAGAGATAGCTGCATATACCAAGATTCAAGAATTTTTTATATTATTGATTAGTTTCTAGAACATTCAATGATATAGAGTAAGAATTTGGTAGTTATGAAGACTGTTTAATTTGTAGGTCTCTCCACCAAATGAAAATGTTGCAATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTTAGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGATGTAACAATGTTGGGGTAAGTGAATTCTAGTTTCCTTGAAAAATAACAGATAGGAAAATGATTTCTCTCTCTTCTTTCTTGCTCCTTTTCAGCAGAAAGTTTTCCATATTTTATTTTTTTAATTTTACTTCATACTTTAAAACTCAAAATTAACCGTTGCCTTATGTTCAGCTTTTGTAAATATTTGTGTATGTGCTCTCTATCTACCAAAGAAACAAGTTTAAAGCAGAATTTACTTCTAAAGCAAAACATCAAATTTTAACTTTTATACCTATCTATATTTCCTGGAAAGAGTTTTCTGGTTAAGAGTTATAATTCCAGTTACAATATTTGCTATCATTTTTAGGTGACTTGTATCTCCATCCATAATTCCTGGGTTTTTCGTGGTGACTAGCTAGCTTCTCTATTTAATGAGGAGCATAATTTGAGACTAATAGCTCCCTTATTTGTCTTCAAAAGCTTAGTAGAGAGTACAGGCTTTCTCCTGGTGACCGACTGTAATTTCCAAAACAGTAACCTTTCCAGTCTCATCTGAGTTTTGTCTCCCCGAAATGGGCTTTTTGCATTTCCTCCTATTTATGGTAGTTTCTGGTTCTCTCAATTTACCATTACTATAAATATTTGACCAAGTGTCTAGAAGGCATGTAGGTGTTTAGTTCACATTACTTCTTCACAGTTGATTTTTGATCTTGTAGGAAAATAGTTATAAGATATCATGAAATATTTTGGAGTTTTATTAACATACTATAAACTTGAATCAATAATGCTTTAAATTTCTGCCTCTCTGTAAGTCACACTGAAGTAGAAACTTTGCTTTCTAGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTCTGGTAATGCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGACTTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGTGGAGATATCGAGAACTACAATGATGCTACTCAGGTAAATTTTTTTATGAGAGTCATCTGAATAAGGGGTGATATATGCCTTTTCTTGTAGACATGTAGCTAATTGAACTTCATTTTAAATACGAATTTAGATCTCTTAGGGACACAGGTTAACAGGTTTGACTACTTTAAGAAACTCAAATCCATATTTAAAAACTTAAATATAGATTTAAGATTTTTAATCAATACACATTTGCCCACTTTTAAAAAGCTCCCAACCAATTAAAAAGCTCGTCGACTTTATTTCCTAAATTCTCTATTTTCTATTAGAAAATATTTCCAAGATACATCTATAGTAGAATGTGAGCATCCCCAGCGCCCAATGCAAGGAAGTCACTATAGAATATCTCTTGAGGAATCATGGAATAAATGAATAATCAAATGGATTCTCATGTGAAAAATGAGGTTTTATGAATCAATCATAACATTTTTACCTCAACAGGTCAGAGATTGTCGTCTGGTTGGTCTTCTTGATCTTGCACTGGAGAAAGATTATGTGCGTTCCAAGATTGCCGAATATATGAATCATCTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGAGACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGAAGTAAACCTTTCATTTACCAGGAGGTACATCAATACATATATGCATATAAAATATCATCTTATTCATTAGAAAATAATGGCAGATTTAATTAAAAATGCAATTTCTATAGGATAAGGACTGAGTCATTTATATAAAATGGTGTTCTTTAACCTCCTCTTCACATACAGCATATCTAATTCTTTATCACAAACAAAACAAAACAAGACAAAAAGAAATAATAAATAGCTTAATTTATTAATAAATAACAAATAGCTTAAAGCTATCTTTTATATAATATTAACTTATTGGTTAAAATGCTTTAAAGTCCTTATGCAAAATGTTACTTTTTCCTAATTTTCTACTAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTTATTCGCAAGTGGAATGGAGAGAAGATGTCTTACCTAAAGTAAATAAATACAACTTTTCCCCTGAAGTATTTCATAGATTTATTAGTCATAGTACCCCAGTGTGAGTTATCTTCTGGAACATTCTTTTTCAGACAACTATCAAGGAGTCAATTGTTAATGATAAGTATTCTAGTGCCCTAAACTCTAATCAATCATCTTTTGTATTTAGAGTGTCTATCACAAGTGAGTATGCCTAGGAACGCTAAACATATCCTAGGAGTTTCCGTCTAAGTACGAGATGAATATACTGGATTTGACTGATGTTTGCATATAATCTTTTAAAGCCAGGTTATTATTAAAATGATCCTATCATTTATAAAGTATGTACAAAGTTTCCATACTGTAGAATTTACATATATTATATGAATTAAAAATATAAAAATATTTATATTATAACAATACAGTATTGAAGCCTTATTTTAACCTAGTTTGACATTCCGTAAAATGTGATATGGATATTGATCCTTCTGGAGTGCCTCTAAATGATAATGTGCTGAAACCTCTGAAAGGACCTTTTTTAATAACAAAAATCTTATATTTGTAATATGAATATAAGTATTCCATACTTGTATATACGAATATAGACTACATATGTAGATTACACACGTGTGTGTATATGGTGTGTGTGTGTATATATATTTGAGTGTGTGTTTGTGTGTGTGTATGTATATATATATATATATATATATATCTTACAGAATAACCATTTAATTAGAGAAAGAATTTAATCTTCAGATGCCATGCCATGCAGAAAGAGATGCACAGTTAAGTTACTCGCAAACTATTGTGAAATGATACATCAACATATATCTTATTTTTCAAAAATAGGAACTGGGGAGAAGGTTGGGGTTTCATGCCTTCTGACAGAGCACTTGTCTTTGTGGATAACCATGACAATCAACGAGGACATGGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGTAGAAAACCAAGTTCTCTATTTTTTTTAACACATCTTTTAATGATGGTAATGATATTCTGATATTCTGTGATAATATAATTATGTAACTTTCAGGCTGTATAAAATGGCAGTTGGATTTATGCTTGCTCATCCTTATGGTTTTACACGAGTAATGTCAAGCTACCGTTGGCCAAGACAGTTTCAAAATGGAAACGTAAGTTTTGAAATTGTTCAAACTATCCTTTTCTCAAGAAACAGAAGGCAATCTTGTTCTAACTTAATATGACAACTATTAATTATATATTCAACAAATAATTGATTAGAAACCTGATATAGGGCTGCGATTTTAGTAATGCAGGTTATATTAAAGGAGTAAAATATATATTTTCCATTGACAAAGAGTATGCAAGCCTTTTCAGACATATGATAAACATCCCCCTAGCCCACAGGAAAAAAAAAAAAACCACTTAAAAATAAGAGCTAGGCACAGGGATTAAAATATATACTTCGAATAAGTACCTACCTCAGGGTTAATAGGAAGATTATACATGCCAACACTTTTAGAGAACTTAAAACATCATCTGCCCACAGTAAGAACAATATAAATGTTCGTTAAATATTTTTAAAAAGTTATATGGAATACAAAAAAATGATTCAGTTGAGCTGAGTTAAATAGGGAAAAGTATCTAATAAGAGGAAGGAAATTATATGTACTAAAGAATGGAAATTTAGAGAGTATTCCAAGAAAGGTAAGAATGAGAAAAATATTTGGGAGTATGGTAAAGACATTTATCTGATGAGTAGTTTCAAAAAGGAACAGAGAAATAAGAGTGTACAGATATTTGGAAAGCTAGTAGAAGGTTTTCTTTAAACTAAAGGGTTCAGAAACAGCATCAGAGACTTCAGATCTAAAGCAGAAATTCCTCCTTCCTCTGAGTCACACAGATATCTAGCTAGCTTTTTTTAGATTCCTTTCAGTTTGAGAAGTCTGTTACTTTGTATAGCAACTGATTCTATTGTTAAACAGCTTTAATATTTAGGTGTACTTTTATATTGAGCCAACTTATCATGATTTCTACTAATTGGTCTTATTTCTGATGTTAAGGGTCACAGAGTATTTTTATTTTTTCTATCACTATAACTTTTCCACTTTCCAGGACTGCTGCATGCTAAAAACTCTTAGTTTTGTTCACTTTTCACCATATGACATAATTCTAAGGTCAACACTGAAAAACTTCCTAGGGTTACTCTGGTTTTTTTAATTAAGATTTTTTAAAGTGCCAATCAGAAAAACATAATATTAAAACTGGTGTCAATTTATAAAAAATGTTCTGATGTATTGTTTTGTACAATTATCTAAACAGAAGCATGATGGACTCTAATATTTATTGAGCACATGTCACGTTCAAGGCATTTTCACATATATTACTTAATTTTTATAGCAAAAAAACAATATTCCCATTTTACAAATGAGGAAACTGAGACACAGAGAAATTATGTATGTTGATTAAATTTTCTTAGCTACTGTTAATAGAGCCTATGTTTTAATCCTGGTGTTTCTGGTACTAATGCCCTTCCCATTTCAATGACATTGCATGGCTTACAGTGATGTTAAGAAGCCCTTGCAGGCCAGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTGGCGAGTCCAGGCGAGAAGATCAGCTGACCTGAGGAGTTCAAGACCTATCTGGGCAAGCTAGCAAGACCTCGTCTTTACTGAAAATTTTTTAAAAATTAGCTGGTTGCGGTGGTGCACACCAACAGTCTTAGCTACTTAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGATCAAGGCTGCAGTGAGCTATGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAAGAAGCCTTTGCAGTTCCTTGGAATGAAAAGGAGAGGATAACAATTTGTTACCTTTGTTTGAAATATGGCAAAAGAGAACCAGAGGATAGAGAGATGATGAAGACCCAGTAAAGGGCTATAAAAATTATTGAAGGCATTGGATTCTAGATAAAGTCATTGAATGCAGAGACACAAGTAACAGGATAGGTTGGGTTTGGTTTAAAGGAGAAGGAAGAGGTAAATATATGTATGTTAAAATTTGGCTTTTCACCCCCTAATTAAGGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGAGTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAACATCGATGGCGCCAAATAAGGTGAGAATATGTATTTAGACATGTCCTCTAATAGTAAACTTTCCATTGCATTTTATTTAAAACAGTTGAAGTTTAAGAATATCAACGTTTTATATGGTATTGTGTTTTTAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCTTTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGATTCATTGTTTTCAACAATGATGACTGGTAAGTACATATCAATTAAAAATAATATTTTGTACCTGTATGCTCTTGGTTTATTCCTTTTTTTCTGTTCATTGACATTTATCATATCTGAAAAATCATGTAGTCAGTGGAGCAAGAAGACAATAGACATCAAAATTGGGCAGAAGTAAAAAGATGATGGCTGTTACTCCTTCATTCTCCTGTTTTATTAAGGGCTTTCTGTTGTAAGCAGAGTCCTTTCTGTGCACCCTTGCAATATCTTATGCATATATTGAATGCACATACATATGCTCACCTACACATGCCACAAAATACACAAAGTAGTTAATATGAGGATTGTGAAATCATTAAAAGAACATGTCTTATATTCCTGTTTTTTTAATCATGGAAAAATGCTGCCTGAGTACTAATATATCTTTATTTCTAACTCTTTTTCTCAATGACTGCTCTATGTAGTTTTTTGGTATACTTTCTTCACTTCTCTGTCTCCTTGTGACAAATAATATTTTTAAAGCATATGCATAAATAATATGTATCTTGTGGTTAATGATTGGCTTCAGGGGATTTGAGTTTTAGTTCCGAAACTTCTCATTATTGGCCTTTCATCTGTGATTCTTATATCCTTTACTGAAGTATAAATGATTCCCTAACCTATAGCTCAGAAGACCTCGTTGCAAACAGTTGAATTGTCTCTGTCCAAAGCCAACTGATACTCATACTTAGCTCATTCTAGTATAAATTATATTTCACTGATGAAAAATAAATAAATACATAAATACATAAATCTAGTTGATCTCTTTCCTGCCAAAAAAGCCCATGTCTAGTTCTTTAATTTCTTTCTTTTGTGGATGAAAATACCAAAATAAATTTTTGTGAGAAAGCTTTATATTTCAAACTATCACTTCTTCATAGAAATGCTAGATTGTTTCTATGTATGCCCCAAATTCTTTTTTACCTTATGGGGAAAAAAGGAGATTAAAAAAATAAAACCCTTTAAAAATTTTTTTTTAAATTATACTTTAAATTTTAGGGTACGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACCCTTTAAATTTTTAAAAGTAATTTGTATTAAGTTCAGTTGAGAACAAATTTGATTTTAACAAGCTAGCACTTTTATCAAAGTGTGACCATTCCTGCCAATCTTCAGTGATATTCTTCAACTTTGATTTTTTGGTAATATTTTCACTACGGACCAGGGAACTGCTACATTTTCTGTAAGGTTACTTTTGGTCCTAGAAAGCTATTTACAACTACTAGGGAGGCATATGGGTTTTCTTCTTAATGAGACTTCACTGCTTAGGGTTCTACAACATAAAGTTATGCTGTTTAGTTGTGTTAGCCTGTATTCTTGATTTTCAGTGTATTGAAGTTAAATCTGAAATTTTATTTTACAGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATTAAAATCTACGTTTCTGACGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAGGATCCATTTATTGCAATTCATGCTGAATCTAAATTATAAAATTTAAAATTAAATGCATATCCTCAAAACAATAGCCAAGTGTGTTTCTTTTCTTACATATACAGTAATACTTATATTTCATTAATTTTTAGTAAAAGCTCTAATTAGTAATCAACTTGTAAAATTCACAAAAAAACCAATAGTATTAAAATCCCACTTAATTGTTGAATAAGTGTAAGATAATAATAGTCAGCAAGTTGTTATGCTTTAGAAGACTGACTTTAACCTATTTAAGCTATGAACTCAGAAAAGCATCTCAACCAATATGTTTGTTGCCATTAGCATCATTTACCGAGCTGTGTACCTTTAATTTCTGCCATTCTATAATCCTTCCAAGGAGTGTTTTTATCAGTTAGTTAGGGATAGCTGGTTTAATGCTGATTCCCATGCAAAGTTAGCCCGGTTGTATGCTTTTTATAATATGCAAGTACTTCTGGTGTTAATAAGGTTAAAAAATAGAAGAAACCTAAATTATACAATCTACAGTTATCAGTTCTATTGAGCTCACTGGAATCTTCTCCTACTTTATAGACTTCCTTCTTTTTCATTTTTTTCCTAATTGCTTAGACTTGTTGTATATGACTTTTTGTTCTTTTTCTTATTCTACAATCTGGATATTTATTTAGGGCTTTCATGACACCTTGTAGTCTGGGTTTTCTTCCCAATTCTCTACCTATTCATTCTTCTTCATCTTGACTTTACATATGGAATTCATTAGGGCTCTCATCTAGGTTTCCTTATAACTCTCAGTTGTTTTGTTTATGCTTAAATGAGAACATAGAGGCCATAACTCAGAAACTGTCTATTCTTCACCTATAAATTGTCCCTGCCACAAAGCAGATTCACTGTGCATTGGTACCACTTCGGCTCACTGCATCTTGGGCTGCAGTTTCTACTACTTAAGATTGAGTCCAGTGATTTAGAACATACACACAAAAAGTTGCATGAAGCAGGCTTATTGCTTATAGATAGGCATCAAGTGACACAGAAGCCCGGCGTTCAGGAGGAGCCAGCCTCCCAAGACTCAGACCGTTTGCCCAGGGTGTTGAAGACTCATTTGCACATGCCCTATTTGTACCACAGCTGAGGGACCCTTGAAAGAAGCCTGCCCCGTGTTTTATAACCCAGGCATCCCATGATACACTGGGCTAAAGCACTTAAGGAAATGTTCTAAGAGGCACAGTAAGAGAGTCTGAGACTTATCTCAGGATGTTGCATTCCCAGCTCATTCTACAGCTATTCTTGAGATGCACAAGTTATAGAGGAGGAAAACCTGGGTTGCTCCAAGGCCACTTGGAGAGTTGTCCTGCATTTCCTCTAGCATTTTCCTTTTTTTTCTCCTATTACAATAAAGAAAGTACATGTCATTCTAAGAAAGGCCATTTTCTCTGCTTAAGTTAATGATACCATTCCATTTTTATCTTTTGGAGGACTTTAGATTATCCTCCCTCTTTTGATTTAGCAGTCTTTCCCTTTCTTCTGCATTAGTCATCCTAGATTACATGTATTACAGTCTTCCAATTAAAAACATCAATGACCATCCTCAGATATTCTTCTGGGTATATTACTTTGCTCATTTCCTTGCTCCCTCTCCTAATTAAACATCTCTTTTTATCACACTGTCTCCACATCCTCAGCCTCCGTCATTATTCATCTCTCTACTGTCCAGTTTTCACCATTATCACTTCATTCAGTCTGCTCTTGTCAACATCATGAGTGACATTTATGTTACCAGTCCAATATATTTCTCTGTCCTCACCTTAAACCACTTCATAGCAGTATTAATGATGGTGGGTCACTTTCTCTTTCTATCTTCCTTTTTTCGTGTTATTCTACTCTCCTGGTTGCCTTCTGTCTCATTGATTGCTCTGTTTCAGGTTTTTGTTTTTTTTTTTATCTTATTCTTAGGTGGATCATCTTATTCTGTTCCACCTAAGTCCTAACTTTTATCTATTTCTCTTCTTTATCTTCTCTTCTCTAGGTGATTGGAATCATTTCCATGGATTTTAAACAAATATTTTCTGTGGACACCTAGGTATCTTCAATTCAGAACTTGGACTTCAGCCTCATACTTCCATCAGATGCTTGTTATCACCACTTCCATGTTCCACAGACATCTCATAATTAACATATTTAAAATGGAACCCTCATTTTTTTTCCTTGCATAAACCTTTTACTACATTATTTTCTTACTGCTTAGAAACCCAGGATATTTTCTGATTTATCTCTCTTAGCTCAACAACTTTATCTCTTCATATAAACCTTAGCATGAACTATTAATTGTATCTTCAAAATATCTCTTCATTTATTGCACTTCTTTTGTATCTTCTATCACCCCTTTATCCAGCTCACAATTATCTGTTCTCTGCATTCCAAAACAACTCTGCAACTGGTCTCCTATTTCCATTATTTTACTGTCTCCCTTTATTTTACTAAAGACCACAACATTATATTCATACAATTTAAATCCAATTAAAATGTTAATGCTTAAAACTCTTAAATTTTTATTGCATTCAGAATAATTCTAACCACTCATGGTAGCCTACAAAATCACACCTTATCAGACATGAACCTCAGTTCTATTCTTTTCCCTTGACAATCCCATAGCCTTAGGTATTCTGGTCTTTCGTCATTTTATTAAATATGCCATGTATTTTTATTTTATGTTGTGGACTTTTTGTATGTGTTTCTCCACTCTTTTGGAATCCTCTTAACTGAGTTCTTAGCATGGTTGGCTCCTGTTTTTATAAGTACTCCCAAACACAGGAACTAGCATTACCATTTTTTCAGTCCTGCAGTTCAGAAATCTGGGGCTTACGTTTGAAACCCTCTTCTCTTACATTTCCCAGAACAAATAAAGCACTGAATACTTTAGATTTTTGCATTCTATTTCTTCACTATATTATTTTCTCTTTCTACTTCTACTATCTAGTAACCCTTTTCTTCAATGACCAAAATCTATTTTACTTCCAGCAATATGGTGAAAAGACTATCGACTCTTAATTTAAAGCCAGACTTTATTGTTTATAACAAATGCATTGCAGAATGTAAACAGAGAATGTAATCACAAGCCAGGGGCTGGGAGCACTTCATATTAGTTTCTTAACATGTCAGAACCACATTCTTTCATTTTTATAAGAGAGTAACCAGAGAGCCACTTTAAGAATTTTTAGTGGTTAGCAGAGGAGTAGAGGAGAGTGCCCTTGATACACAGGTAGTGGTGAACATGTATCTTTACCCCCAGCAGGAGAGAAAAGATAAACATTAGAGACATAAGCTAGCAAGCTTCAAAAAGGATATTTGAAAGGGGTTTTGTAATGGGATATCAGTTTTTGTACAAGGGAATTTATTTGTACAAGAGGTTACGGAGCTTTTCTCGGAGAATAAAACAAGCCTGTCTATTACTTGAAATTTTAACTTTTAGAATAGCTTACGTGCACTTATGCTGATTATTGAGGGGTTGACTGCAGCATCAGCGTCCACTTCAGTCCTTTCTCCAACCATTCCATTATCTACCATGCGATCAGAGTGATCTTTTCAAATCAGATAACCACCACCACTTACCTTAGGATAAAAAGCCAAAATTCTTATCAGGGCTTGTAACCCTGTGCTTGAAGTCTTACCTCACTCAATTCTCCTCTTTAATTTCTGATCTCTAACCATGCTAATCTTTTAGTTACTGCAACTCAACAAGATCTTTTTAGTTCTTTAATTTCAATTCAAGAGACATTCTGCTCTTTCTGCTTGGAATGCTCTTTTCTTACCTCTTCTCCTAATTAACTCCTGTTCATCATTCAAATCTTAATTCAAATGCTGATCCTGCATGAATATTTATTCAGTATTAGGTCAAGTCCCCTGATGACTGTTAGCAATCTCTGTACTTCTTATCACTCAGCATAGTACTGTGGGAAATATCTGCATTGTTCTTTATTGAATCCTTAGTCTCAGGACATTATCCAGAATGTCTTACGAAGAGATCAATAATTATTTGTAAAATGAATTGAGATAATAATAAAAGAGAAAAATAAGAGAAAAAATGTATCTATTTTTGAGAAGGAGAACATTTTTAATGAAGATGTGGCCCTGGAATACAGATGTTTCTCTCATTTTTTTCCTATTTCTTCCCAAATTTAATTAATTTCTGGTTAACCCTGATTTCTCAGATCATAAAAATCATGGGGAAATCAACTACTTTGGCAATAACCCATCATGTTTTCAGGATTTGTAAGCCATAACAACAGTAAATTCTTTGGTGAGCTATACTCTCAGTAAGTAAATGAAGAATAATTCAAATATTATTGGGAAAATGATGCCACATTCATCTGAATATAATAAATGTGAAATTCATTTTACTATGTTCTTAGAACTTTGTAATACTAATTTATAATAGCAGTTTCATCCTTTAGATATTTCATTTTATCTACGGATCTAATTCTTCCTGTGAAATTACTGAGCTATTTCTCTATTCTTAGAAGAGAAAATAACTCTTTGTGATAAAAATCATTACTATGTATAATTAGACTTCCGTTTACAAGTCAAACTGAACCAACGAACTTACAATCATAGAATGTGACTAGTCACAGGGAATGGTTGGGGCATTAGCTCAGTACCTGTCCAAAGTGAGCTCATTATTATGATTATTAGTATCACCATTATCAATCAGCTTCCACATAAAGTGTACCTAAATGCTAGATCTATATGATAGCTTCCAAAATGACACTGATTTTTAATAATCCAAATCTTTAAAGAGATCACTTTCCATTTTAGAAAAATGAGATTTTTTTTTTTTTGGAAAAGATAGAAAAACCTCTAAGCATTTTAACCAAGGGTTTTAGAACACTTTATTTTTATGAATATATCAAAGCAAATTCCTTCTTTATTTTGAAAGTGACTGGAAACAATTTCACGGTCTTACTAAGGGCTAGTTTAAGTGAGTCTCAATTTTTCTTCTGTTTTGTTTGCTCTTACAACTTTCCTCACACACACACACACACAAAGGGAGATATAAAAAAATCTAGATATAACAGATGCAACTTACAATTTTTTGGTAAGAAATCATAAAGTTTTAGAAAAAATCATTTAGGAGTGTCAATAAAAACGATATTTAAGAAAACAGTAGGAAAAGTGATATATTAAAAGACTTTTAAACACCTTTCACAAGAAATTGAACAGATGTGCAAATACACATTATACGTTATCTATTTGCTCATTTTATCCTGTCCTTAAACATAAACTTTGAAGATAAAAGAAAGAAGTGTGGCTCAGGGTCACTCATGTAATCTGTTTTTAGGCAGAAACAGGTGTGTTGAAAGGTTTTTAGGTAAAACAACCACCACTTAGACTTCAATAAAGTAGTATTTATTATTTTCCTATAATTGCAAATTTACCAAATGTAACTCACTATTTTTTCTTTAATATTTTCAAAGATATTTTTGAGTAATTATTATATTTTCACAATCAATTCAGTAGACATTTTTGAAAAACTTATCTGAACCTAGTTTTCTCATCTGTGAAATGGAAACAATATATACTCTCTCAGTTTGTTGTGTCAAATGAGAAACCATATATGATATACTAACCACTGGTTCTGGCTAAATGCATACCTCCTCATCTTTTCAGTAAAGACATGACTGTTGGCCAGGCACGGTGGCTCACGCCTGTCATACCAGCATTTTGGGAGGCTGAGGCGGGCGAATCACTTGATGTCAGGAGTTCAAGACCAGCCGGACCAACATGGCAATACCCCATCTCTGCTAAAAATACTAAAATTAGCCGGGAGTGGTGGTGCATGCTGGTAGTCCCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAATGGCGCTGGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGCAACAGAGTAAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAAGTAACTGTTATTCTCAGTACTTTGGGCCAGCACAGTACTGATACTCTCCTAAAATCTAACTCAAAGAGAAAAATCACAAAGCATTGGAATTGGAGCAGAAAGTAATGTATTCTTGTTTGACATCTTTCCACATTCAGTCTGTGTACTGTTAGCTGAAAGCTAGTTGACACAAAATGCTGTCTTAACTTTAGTGTTGTTTCTAATTTAGTTCTAGGTCATAAAATTTGTAGGAAAGTCTAATTCCAAAACTTTATCAACAGCTTTGTTACGCTCAGGTATTATGATCAGATATCTTATGTGTGCTCTATGACCTCAAGCAAAGATTAAATAAATCTGTACATTACAGTGAAGACCCACATCAACCAATGCAACATACATTTATTTTTCGCAGCACTCTTTTAGGTGCTTTGAAACATGTAACCCATGTTTAAGTGCAGAGGATAGCTGGCAAGGCAAAATATAACTATATGATGTGTTAATAAGAATACAGAGGAATAGTTAAAGTGATGCATAATAAAGTACGGAAATATGTTGTTTGATTTCAAAGGAAGGGGATAGTACATATGCTGAAATGGCCTGGGAAAGCTTAATGATAAGGAAGGTCTTGAGATGGGTAAGAGAGATTTGTAAGGAAGAGAAAGGAGGGAAATTTATTCCAAAAGAAGAAAAAGTATGACAAAAGCACAAAGGAATAAATGAGATGAATGGCAGAAAATAGATCAGTTAATCAGTGAGGCTAGAGAAGCACGTTTATGGAACACTAGTGAAAAATATGATGAAAAGGTAGAATGTGACCAATAACAGAAGGATCCATTTTCTATCAAGACTTTCTTATTAGATTTGATATGTTCATACCAGCAATGTCATCTCTGAATATAAAAGATATCTGTACTTACGCAACATAATTATATGTTATCACTGGGAAATTCTAGGAAGTAATTATCAGTCCCTTTATTAATATTACTATAGAATTAACTTATTCAGTTATAGGGTACACTACGTTTATAGTTTACTTCCTTCCTCCCCCAGCCTCCAGCTTTGTAATTTAAATGAAACTAAATTCCATCATAATTCACTCACTAACACATAGGACTGCCAACCTCTGAATGGCTTTAGATTTGCGTGAACCTGTATTTGTCAATGCTTGCTCCAGGATTCTATTGGCATATGTCGAAATAATTGATTTTTATGACAACCTGCTTCCTGCTTACTGTTTTTTACCATAGGGAGGGAAAAAATAGAATTATCCCTTGATTTAGCTGTCAGTCAAATGACAACTCAAGCATGCTATAAAATTAAAGAAAGCCCCACATTCTACCAGGAACTGATGATTTTAGTGATACTGCTCTCTTTGTAGAAGAAATAAAGTATTTTCATATCTTATGATGAATATCACTATAATACATTAAAATATAGAATTGCATCCAGCAAAATATCCTGAAGTGGACAAAATATGCCCCTCCAAAATATGCCATTTTTGCACAATAATTTTTTTGAGCAGAAAGCAATTAGCTCACTGACTTTCACCTTTCTAAAAGCAAGACATAAATTTCAATTTGTAAAGACGTCTCCCTTTAGTGTACTTGTAAGAAAACTACTCCATAGACAACTCTTAATAGCTGATGACTTATCTGCATAAGAAACTTTATTAAACAATCCTGATTTAGAATACATTTCTTCCCCCACTTTCCCGTAACTTACCTCCTGCACCGAGCAGCCCTAAACTTCTTTTCTTTGGCTAGTCTAAGATATACACCCCAAATCCTAATTGCCTCTTTGCATCACATTTCTTTGTGAATTTCCATGTGTATGTACATAATTAATTGTTATTTTTCTTGTTAACTTGTCTGTGATCAGTTTAATTTGTAGGGTCCCAGACACTGAACCTAGGATGGAAGAGAAAAAGTGTTTCTGCTTTCCTATGGCTTAGGCAACCATGAATGGACAGGCAGGGCATCCCACTTGCTCCAGAGGCTGCAGCTCAATTGAGATCTGACAAAGCTGATGTGAAAACTTTACTGAACCAGATCCTGGAATTTTGCCTACAAAAATACAAATACAGAACTCTGTTTTTTCTTTTCCAAATTCAGATTTGCACGAGAATAAAATTATAAGAATTAGTTCTTTGGAATGTGATTCTGGTGAATTTTCTCCTGAGTATCATTGGTTATTGACCCTTTCACTCCCAGGGAGAGCCATTGCTTTCCTGTGTGTCTCATTTTGTGTCTTGAGCGCTTGGATTCACTTTCTTCCTGGTGGCAGGGTCCACATTGTTGGGCTTGCTGTACAGGCAGTCAGTCATCAGATTGTATGCCCTGAGAATTTGTAGATGGTCAGATAGAGATGCAGGTTGCACTGTCTTGCTACTGATGTTCTACCAACCCTCTCAGAGGGTTTGTCTAAATTTTTATTTCTTTTGGCTATTGCTGGGAGGAACTCCATATCATAAGGACTTCATTTTTGCACTCTCTTTGTGGATACCTCTTACGTTCTTGGCTATCTACATTATTAAATATGTTTTTTCCCTCTCTTATTAATCTTTTATTTATTTAAAAGTGGTGGGTTCCCATGGCCTTGGGCATCTCTGCCTCTGTGGCTTCACAGGGTATAGCCTCATCCTAGCTGCTTTCCCCGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCAGGGACAAGCTGTCGGGGAATCTACCATTCTGGGATCTGGAGGAAGGTGGCCCTCTTCTCACAGCTCCACTAGGTGGTGCCCCAGCAGGGATCCTGTGTGTGTGCTCTGACCCCATATTTCCCTTCTTTACTGACCTATGAGAGTTTCTCCATGAAGGCCCCGCCACTGCAGCAAACTTCTGCCTGGACATCTGGGTGTTTCCATATGTCCTGTGAAATCTAGGGGGAGGTTCCCAAACCTCAATTCTTGACTTTTGTGCACCTCCAGCTCAATAATACATGGAAAATGCCAAGGACTGGGGCTACCACCCTCTGAGGCAATAGCCTGAGCTGTTCCATGGCCCCTTTTAGCCATGGCTGAAGGGGCTGGGATGAGGAGCACCAAGTTACTAGGCTGCACACAGCTCAGGGGTCCTATGCCCAGCCGAAGAAATCACTTTTTCCTCCCAGGCCTCTGGGCCTGTGATAGGAGAGTCGGCTGTGAAGACCCCTGACATGCCCTGGAGACATTTTCCCCATTGCCTTTGAGTTTAACATTTGGCTCCTCGTTACTTATTCAGAGTTCTGCAGCTGGCTTGAATTTCTTCTCAGAAAAAGAGATTTGCCTTTTCAATCATATCAGGCTGCACATTTTCCAAACTCTTATGCTCTGTTTCCCATTTTAAAACTGAATGCTTTAACAATATTCAAGTTACCTCTTGAATGCTTTGCTGCTTAGAAACTTCTTCTGCCAGATACACTAAATCATCTCCCTCAAGTTCAACAGTTCACAAATCTCTAGGGTAGGGGCAAAATGCCACTAGTCTCTTTGCTAAAACATAAGAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTTTATCTGAGACCACCTCAGCCTGGATTTTATATCATTATTGACATTTTACTCAAAGCCATTAACAAGTCTCTAGGGAGTTCCAAACCTTCCCACACTTTCCTGTATTCTTCTGAGACCTCCAAACTGTTCCAGTCTCTGTCTGTTACAGAGTCCCAAAGTCACTTACACATTTTTGTGTATCGTTTTAGCAGCACTTCACTCCTGGTACCAATTTACCGTATTAGTCCATTTTCTTGCCGCTGATAAAGACATACCCAAGACTGGGAAATTTAGAAGAGAAAGAGATTTATTGGATTTACAGTTCCACGTGCCTGGGGAGGCCTCACAATTATGGCAGAAGGTAAAAGGCATGTCTCACAGGGCAGTAGACAGGAGAACAGAGCTTGTGCAGAGAACATCCCCTTTTTTAAACCATCAGATCTTGTGAGATTATTAACTACCCCGAGAACAGAACAGCATGGGAAAACCTGCCACCATGGTTCAATTATCTCCCATTGGGTCCCTCCCACAACATGTTGAAATTAAAATTGGGATTTGGGTGGGGACACAGCCAAACCACATCATTGGGGATGGAACTTTTTATTGTGAGTATGTCTGCACAAGTTACCTGTGTAGATTTTCTTGTCTGTGTGGCTGTGGGAATGTCTTAGTCAAACACCCCTATGCAAGTTTACTTATCTATGACTATAGTTTGATTTTTTAGGCTGTTCTTTTGTTTGAATGAATTCAACTGAGTACCCACCCTAACTGCCTGCCTGACTGGTTTGTTTATTTCTCCTCTCTCATTTTTACCCACGGGAGTGGAGAGCCTAACTGCTGTTAGCGAGGTGGGGTGATGCTCGCTACTTCCTGCTGGAAAGGGGCATTGTATGGGGAACAGCAGCTAGGGTTCCTTCTGTGAGCTTTCTAAGGGTCCTTGGAAGAAATTTGTGTCCATGCATGGTTTCATTTGCATCAACATTTGTAGTTTGATAGACTTTAGGCAAGAAAAAAAAATGGATTATTAGAGGACATGTATAAAAATGAAACAAGGGGATAGGTAATGAAAGCTCAAAAATCTCAAGGCTTCAGCCATGCCCAGATAAATAGTGGCTATAGTTATGCCTACTAAGATTTGGGTGCATGGGGCTTTGCTTTGGTGAACTTCCTTGGTTTTATTTTCCCAAACAAAGAAACCTCTGGGTTATGGGTACCCTGTATACTCCCATAACCTGGTAGGATTTGCAGGATAATAGCCCAAAACTAGAATATTGATTCAGATTTTTACACTACTTATTCCTTTTTTATTTTGAGTTGCAGCCAGAGATTGCTGGTTTGTTTACAGGAATAAGCAGAGTTATTCTAAAATGTACGTGATATGGTTTGGCTTTGTCCCCACCCAAGTCTCTTCTCGAATTGTAGCTCCCATAATTCCCATGTGTTGTGGGAGGGATCTGTGCGAGATAATTGAATCATGATGGGTGTTTTTCCCCATACTGTTCTCATGGTAGTGAATAAGTCTCAGGAGATCTGATGGTATTATAGGAGGAAATCCCTTTCATTTGGTTTTCATCCTCTTTCTTGTCTACTTCCAAGTTTTTGCCTTCCATCATGATTGTGAGGCCTCCCTAACCATGTGAAATTGTGAGTCCATTAAACATCCTTTTTAAAATAAATTACCCAGTGTCAGATGTGTCTTTGCTAGAAGCATGAGAACAGACTAATAGAGTAGGCAAAACTTAAAAACAACTAATGAGATTAGAATTTAATGACAAGTGTATGATAAGTTTTGAATCAAATTTTGCTCTCTCCAGTCCTCATTTTTGTTCAAAACAAATCATGATAGTCATTTTGTTAAAAACAAATTACGACTGAGTTGTTTGCAATGTAAACTTAGGCTCATACTTGGCTTGATTATTTGCATAATGTGCAGCAAAAATAATTATTTTTGCAGTCTTTTAAAATAAGCTTTGATGGAACTCTGTTCCACAAGAGATCTCAGATAGGACTTTTTTAAAGCCAAGCCCGGCCATGAGTTTGTACCCTCAAATACCTATGAGTTGAGTGAATTCCTCTCTTCTTAATGTCACAAGAATATGTGGTTCCTGGGACTGTTATATAGTGACATTCTTTACTCATCACAGATTAGAAACCCCGTACACAGATTATGTAGACAAGGTAGGAGGCCACATTTCCCAATGGGCTTTTATTGGCTCTGTAAGTGAAGCTTGATTCCTCAAAGAGAAGCATATCCATCCAATCAAAGCCTTGGTAAAACAACCAGTTTCTCCAATTGTGTCATGTTGCAAAAGAAAATGAATTCTTACTGCACTGGTGCAAACAACGATATTGCCATAAGTTTAGAATATTCCCAAATAGTTTCCAAATTCTGGAGTAACTTGGCAGAGAGAAACAAATACGCTCCAAATTTTGTTCACTGGTGTATACCTTACTTAATTCTTAAAAGCTGTAGATAGCTTAAAAGAAAGGTTTCCTTAACTCTGAAGAACAAAACAAAGAACAGCAATGTTTTAAGCAAAAAGTAAAAAAAGATTATTTCAGACTTCTATTAGTTTAGTTCATGCAGTTAACTCCTGTCTGATATTCATAAACAGTTAAGATCTTCATGACTCTTGTATGATTTCTTTTATTCTCATGTCATGATTTCCAAAGTTATCAGAAACCTGCATTTGAGAGCACATTGTAAAGTCCTACAGCTGATTGTAAAACATCTTTTGAAGAGGATTAAAACAAGACAACATTTATCTGTAGATGACATAGTGTTCAGGTTAGTTACAGTGAAAAACATGACTGGCAAAGATATTTGGTTATTTCTGTGGTTTGCAATAACTTAATACAATAATCCTAATTATGATCCATAGCATATTCTCAAGCATTAGAATTTTTAAAATCCCATACAATTTTGGAACATATATTAATATTATCACTAAAATATAACCTGAATAAGGTTAAACATAATTTTGTCAATCCCACTTACATGAACCTGTCAAAAAATTCTGTTTACTTCTCTTCTGGATGCTTCAGGGCCCTCTGTAGCATACAAAAGGTAGGGTTCAGGAGAGACAATTTTGAATGTGAAGTTTGATTTTGGGAAGCCTGTCAAATGTTACAGGTTTAAAACACTTGATAGTGTGAAATACAATTCCAGGTAACACATAAGTTATTTATTTTGGCAAAAGGATGACTCAGAAATTTTAAAACTAGGCAACATCCTTTACTCCTTAAGAGGGAGGACTTCGCTTTCCAAACAGTTTGTCTCCTGTCTACTCTTTTCTCTCTTTGGCAGTCTCCCAACAAGGCAAACAAAATATTTCATTATTCTTCTCTATTACATGAAAAATCTGTACAAGGGAAAGAAAGCCAAATTTTACCCTTACATTGGTTTCAAAATAATCCTTTTTCATTGGCAAGGTTTATATTTTATGCCTTTTTATAATCTTTTATGACAAACACATTTTACTGTTCTTACACACCTTGCAGGTAAATTTATTTTTAGTTGTCTTATTTACATGTTTTAATGGTAAATCTTACCAATTTTAACGTTAATATAAAACCTGGTAAGTTGTTTTAATTATGTACTAGATGCAGATAAAGTCTGATTTTTCCATCATATTTAGGGGCATGGTTAATTTCATATGTCCCCAGGCCTTACCAAGTTGTAAGGTAGGTAGCATACAACCTTGAAACATTTAGCAAACCTGGTATCTAACTTACATGATTTAAACTTTCTATTTACATTTTGATGACATTTGCATTGTACCAATTTCATCTTTAAAACAATTACTATTTCTTAGAGGTTAAAGTCCCATAAACTAAAAGGCATTAGAGTTTTAACTTTCCTCTAAAATATTTGATTTAAGTGCTTATTTTTATTTAAGGCAATCAATTAGAGCTCATTAGAGACATCACACACAACACATATATCACTACACAGGCAAACAGAAGAAGATCCAGTAGTTCTAAGATTTTTTTCTTGTCCCATTTCCTAATTGAATTATTAGCTTTCCAGTGGAGCCCTTTAAGAGCAAGGATAGAAAACCATGAAGTTTCTAGGGCCTAATCAACTTGTATAGCTGTAAGACAAAAGCAGATTTTGAGTGGAATCTATCTATGAGCCTCTAAATTCTGGTATTCCATGAGGAAAACAGAGGTTTCTCCCAAAATGGAACCCATCATGCCTTTTCTGTTTTTCCCAAGAAGTATCAGGCCAGCAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAAAACAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAACACAAAAGTTCTTTTCAAGAAAAACACAATCCAAGAAGAGAAAAACATAAAGGCCTTTTAAATATACCTATAACATGAATATCCACTTTTAATCAAGCTGAGCATTCTTTAAGAAAATCATTTGAAATATGCTGTTACCTGACTTTAGCTAAATCAAGCAGGTAATATTTCTGGCTTTTGACTTTACCAAAAGTAATATCAAAGGTGAAACAACAACTCTCAATTAGGTTATAAGTTAACCACGAGTATACAAGATATCTTATAAGTGGTGGTAAGCAGCTTTTACCAGATCTAGAACCTTTAAAGTCAATTCAGAGAAAAGAAGATTTCAGAAAGGAAGTTAGAGTTGTTCATGGAGGAGGAAGAGAAGATTAAAAGTCACACAGCTATTAACTTGTAAGTATTCATTACCCAAACCAGGAGCGAACCCGGGCCACCATTATAAAAAGGCAATGGCTAAAAAGAAGTACTGCCACATTGTTACAGGTTATGGTCAAGGACATAAAACAAGATGGAGACTTGCAGCAAAGTTTGTTACTAACCAGTTTACAGGGGTGACTTGAACAGTGAGCTTACGGAGTCCCAGGCCTGGATTCCGTTCCAAGGTACCCTCTCTCTGATTGTTTCTTGTATTTTCTCTCCTTTTTCTGAGACTCCTCCTAGTACCTGTTATGAAAGACTGGGGTGGCTACTCTTAGAAGGTTTTTTAAGGTGCCATCTGGTTCTATAGCCTGTTTCTGTAGCTTCCTTCAAATATCAGGAGCTGCTTGAGTAAACCTGTCTTTCAAGATGAGCTGTCCCTCAATTGAATTACGAGATAGGGAAGCATGTTTTGCCAAAGTCTCTCTCAGCCTTTATAAAAAGGCTGAGGGATTTTCATCTGGGTTTTGATCTATCATGGATAGCTTAGAGTAGTTAACAGGTTTGGCTCTGGTCCCCTGTAAGACTTCTACCGTATACATCTGAAAGTGTTTCTATTTTTCAATCATCTATGGGCTTAGTAGGGTTCCAATTAGAGTTTTCAAGGGATACTGCCTCTTTTCCTACTGGGAATGGGGATTCTGCCTGTTTCTCACCCTCTTTCCCTTTTTGACTGGCTATAGGAAACATGCTGCTCATCTCTGATTTTTTCTGCTACCTGTAGGGCTGCCTGTCTCTCAACAGCAGTTAGGGTTTCAGAGTAACATAACATCCTTCTAGGAGAGTTTAAATACTTGGGTTATATCCTGGAAGGCCTCTATACATGAGAGAAGTTGGCACTTGCCCAGAGCGAACTTCAGGCTCTGAAGTCTAAAGAATAACTCAAGGGGAATGCAGGCTTGAAGATGGGGTGTTACCCATGCATAAAAAGAGGGGAGTAGAAGGTGTCCCTTAGTCTCCTTTCAACTTTTGAAGTGACCCAGGTTGAAGAGAAAGATTACAGGGGTGTCCCTCTTCTCTTTCCTCCCATCTCCTTTGGGTCCTGGCAACCATCATAGGTGCAGCCCATGGATGCAAGCATGAATTGCACCCATGTATCTGGAGGTGCTAGTTGGCAGGGGTAGTCATGCTTACCAGCACAATGCCTCATCTCACTGCCCTTCTGGGTTCCTAGGCCTCCCAGGAGATTGTACAGTAGATAAAGTTGGGTGAGACACTTTAACAGAGGGAGTGTTTTAACCCTATTCCTGCTTCCTCTAGCTATGGCCCTGGAAAAGCAGTGCATTCCCAGAAAATTTTACCCATTGCCTTTTAAACACAAAATCCCCTTTCTGATTAAATGCCAATGTTGTTGGAAGCAGAACAGGTGCCTCAAAAGAACATATGGATTTAATGGCTGTCCTCCTTCTGATGGGAACAGCACTGAGGCTAGAATTTGTCTCTCAAGGGTGGCTTCCTCCCAACTGTTGAATGCGGAGTTTTTTTCCCTACAAATGGGGCATAGAGTCTGCTTGCTGACAGAGGAACACAAAAGTGGAAGAAATCTGGGTATTAGAGGTTTTTGGCAAAGGGCCAACAAGACTCTATGCAGAAAAAAATCCTATCTCATGAGGTGGTGCTGTAGGTTTTGAAAATTTAGGTAAAATCTGTGACTCTAAATTTCTTCCAGGCAGAAGCTAGAAAGAGAGGTTTGAGGTTTAACAGACTGTCACTATATATGCCTCCCAGCTGTAGAAAATTAACTTGTCTCATTAATAAACTGTTCAAATTCATTTAGCAGTGGTGAGCTTTTACATGAAGGAAAAGCAACTAAAATGGAGAGGGATGAGGGTATTCACTCGGGATGAAATATCTTTTCATAGAGTACCATGAATGACTGTTATTGTGGGACAAAAAGCACTTACTGGGTGAAGGTTTAGACTGAAATCTTGAAATCCCCTGGTATTTTGAGTTTCTGCTTAGCCTTTCCAAAGGAATAAAATCAGATATGTATCTATCTCAGTGAGCAGAGGAGTGACTTTGAGTAGAATGGGAGGAAGGTTTGTCCTAGGCAGTTTCCCGCTTGAATTTTCCCTAGTGATTTCAGGGGCCCAGTATATTGTCCTTTCACACATCTGACAAGTAATTGATAACCAGAATATCTAAGCAGCTCAAACAATTCTAGAGGAAACATATCTAATAGTTGGATCAAAAAGTGGGCAAAAGATTTAAATAGACATTTCTCAAAAGCAGACAGACATATGGCAAACAAGCAAATGAAAATGTGCTCAACATCATCGATCAGAGAAATACAAATAATAACTACAATGAGATATTATCTCACCCCAGTTAAAATGGCTTTTATATAAAGACAGGCAATAAGGATTGCTGGTGAGGATGTGGAGTAAAGTGAACCATCATACACTTTTTATGGTTATGTAAATTAGTACAGCTGCTATGGAAAACAGTTTGGAGGTTCATCAAAAAACTAAAAATAGAGCTATGATGTGATCCAGCAATCTCACAGCTAGGTATATACCCAAAAGTAAGAAAATCAGTATATTGAAATGATATCTGCACTCCCATGTTTATTCCAGCCCTGTTCACAATAGCTAAGACTTGGAAACAACCTAAATATCCATCAACAGATGAATGGATAAAGAAAATGTGGTACATACATACAATGGAGTACTATTCAGCTATAAAAAAAAATGAGATCCTGTCATTTGCAACAACATAGATGGAACTGTACATTATTATGTGAAGTAAAATAAGCCAGGCCCAGAAAGACAAACATCACATGTTCTCATTTATTTGTGGGAGCTAGAAATACAAACAGTGGAACTCATGGTCATAAAGAGTAGAAAGATGGTTACTAGAGGCTGAGAAGGGTGGATGGGAAGCAAGTGGGAATGTTCAATGGGTATAGAAAACAGAAGAATGAAAAAGACCTAGTATTTGACAGCACAACAGGGTGACTATAGTCAATAACAACTTAATTGTGCATTTTAAAATAAATAAAAGAATATAATTGGATTGTAACATAAAGGATAAATGCTTGTGGTGATGGATAACCCATTTACCCTAATGTTATTATTACACATTGTCTGCCTGTATCAAAATATGACACATGCCCTGTAAGTTTATACACCTGCAATGTACCAACAACAATTAAAAATTTAAAAAGGTGTATCCTTCCCAGTGAACCAAAATATTTTACATTGATAACTTTTAAGTTATCATAGTGTGTTGGAATAATCACAGCTTTGGAAAGAAAAAAATTATAGATATAAACTTTCAAAGATGGCAGGAGATATAGATCTCTCTTTAGTGGATTAAAATATGCCATTTGTTATTAACATCACACTGAGATTTTTTAACACAGGACATCTTCTGGAAATGATATGATTATAGGAGTTATAGGAAAAAGCGTTTTTTCATACTGTGATTACCTATGCTATGAAGAAAGGAGATATTTCCTCTATGATGTCTAATTTAGCATAATTATTGTTTTTAAACTATATTTAGATTTAATTAAGAGATACACAAACAAATTACTTTTAGTAGTAAGAAGATTTTTAAAAATTTTTTGTGTAAGATGACTATGTAGTAAAGAAGGTTACAAACTTACTTTTTAACGTAGAAAAATAATCTCACCTTCTTGCCCCATGGAAAATTGAAATGTTATGTGGAACCCAGTGTAGAAAAACTCTCAGTGAGGTTTTCTGTCTTAAGTTTCAGTGGATTGAGGTGAGATCAACGCCTGTTCCACCTTTTTCCTCCCTGTCCTAGCAGGCTTGAAAACATTTATACAGCCATAAAATGTTGCCTTTAAATTCAAGTATAGAAAATAAAATTTAAAATGTGATATTTTTATATATTTTATTTTAATATCTTACATGGGAAATGTTTTTGAAATGTTAAAAAATTAAAATTTTTAAAAGAGTACTGTGAAATAATCTAATCACATGTGGAAATTTTGTTACTATTTCCCCAAGCATTTTTGGTACATTTAATGAGTTGAATGTAACTCATAAGTAGATAAAAATGTTTAATATTTAATTTTCTGCTGCAATAATGTTACAAAACAACCTTAAATTCTCAGTAACGTTAAACAACATATTTTTTTCTCCCAAATTTCCAGGTTATTTAAGGGCAGTTCTGCTTCATATTGCAGTTTGCCTGGGCTTTACTCCAGGCTGTGTGTTGGAGTTAGGTCTAATATATTGTATCCCTACGTATCCCAGTTAGAAAGCCTAACAGATTTCTTTGTACTTCAGTCAGCTCGATTGTATTTGTCATTCAAAAGCCAAAGCATTTATCCTAACACCAATTGCTTCTTTTTTTTTTTTAGATGGAGTTTCACTCTTGTTGCCCAGGCTGTGGTGCAATGGCACGATCCTGGCTCACTGCAATTTCCGCTTCCCGGGTTCAAGGGATCCTGAGATGGGGTTTCTTCGTGTTAATCAGGCTGGTCTCAAACTCTCGACCTCAGTTGATACGTCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCCAGCCTAACTGACTGCTTCTTTTGTTCTGTAGTCTTTCTCCAAAACTGTTTTTCTCTGTACTCACTTTCACCTTCTCTCACACATATATGTCCCTCATGTCCCTTTATGTCTCCAGGGTCTTCTATTTCCACGTAATCTTAATTGTTCATCATATCCTGGACTCATGAGTAATTAATCTGTTATTCTCCCTGAAAGTGCAGCCTTGTTGAATAGAATGTGTTCTTTAAAGAGCAGCTTTGTTTCTCGAGTGAGGTATTAACTTCCAGATTTAAGTGAAAATGAGTTCCAAGTTTTATGTTTCATTGTGTGTCTAAGACTGACACCGTTTATTACTGTGGCACTTACAGCTTGCTTTCAATGCCTCCAAATTCTCTATCTGAAGGGCTGGGTACCATATCTCATGTCTGAACATATTCCTCAGAATCATGCAGTACCAGCTATGTTCCTTCTTTATATTATGGCTCCTGAGGTGCCTGTTAAGCAGCCAGGTGAAATTGCCTTTTAATCAGTATAGGAACAGTCTCTTTCCTGCTGATGCTAATGCTTTTTGTAAAAAGGTCATGCTGTATTGAAGTTCTTCTTTCACGGCAAAACCACTAATGGAACTCATCTACTTACTGATGGGTGGAAGCTCTTTGTATGCCAAAGTCTTGTTTTGTTTGTGAAGAATCTCTTTCCCTCAACAGTGATGTGCTACGTTAGGTCTCAAATCATTGTTGCTTTTTAATCCAAATTTATGACAAAGATTTTCAGTTTGTATGCATAATTTCCTTCTCTGGCCTTAACCATCAGTCTGTGGACTTGCCAAGCAACAACCACAAGAACAACAAGTCTGAGGTCAAGAGACACTATTTAGATCTCAGAATCATTTGTTGTCCTTTATCCTTTGACAAAGTTTTGCCTTTCTTTCTTTATGAGATTTTTTCCCTAATGGTTTCTCAATCTCTTGAGAAGAAGAAAGTTCTTGACTCTTGCAGTCTTTCTCATTAGTTGAATTATACCATCAGTACAGCTTCTGATCATGTCGAGAAATCCACCATGAAGAAATAAAACATTTCCGATTACATGGATTACGTTTCTTGGATTCTTATAGGCATTAAACTTCATTCTAGGATACAACCTCATGATCTTGTCTTATTCTCAGAACAAGAAATATATTACTATATACATTACAATATATATATATTGCAGTTTCCTTGCTATATATATATATATATGTATGTATTATAGTAAACCCTGTAGGCAAGCAGGAACACTTCAGAAGTCTCAATGAATCCATCATTAGCTGTTAGTAATGACAACACTGTTAGAATTATTTCAATAATCACACATTGTTATGGTCTGAATGTGCACCCCCAAATGTAATATGTTGAAATTTTAACACCTGAGGGCATAGTATTAGGAACTTGGGAGTGGAACTCTTTTTAGTGCTATTATGAATAAGATGCTTGCCTTTTCCAGCAAATGAGGACACAGCCACAAGCTGCCCTCTAGGAACTATGAAGTTAGTCTTCACCAGACACAAAATCTGCTTGATTTTGAATTTAGCCTCCCGAACTGTGGAAAATAAATTTCTGCTTTTATAAGCCACTCAATTTATGGTATTTGGTTATTGTATCCCAAACAGACTAAAACACACATTATTTACCTCCTTTTTGGACTGTCTGGGGTTGTTGCTTTAAACTTGCTTCAGTGCCTAGAACTGCTCCAAGCTCCCTGTCCTCTGGCACACACGTATAAATAATTCTGCTGGAAACCGACATGTTTCACTCAGTCATCCAAATGTATTTATAATGTTGTCCAAATATATAGCACTTGTTACAATGTTTACATTTTAGACATATTTTGAGATATGTGCCTTAACAGAGTGCTGTGATTATTATTAATATTTAGTAACTTATCTTACCAGACCTAAACTCAAAGTTTTTCACAATGGCAATGCCTTATTTGGGACTTATTTGGGACTGAATGTATGAAGATCTTACATTGAGTCCAAATTGATTTCTCTGTTAGTCTCGCAATAACATTAAAGCCACAGAATTATCTGCTGTATATTTCTTGTCTTGTTGTAGCTGATATTCTACATATTAGGACAATTAGGACATTAGTAATATCTATTAACCTTAGAATAAAATGTCATATTGAAATTGAAGAGGAATATTGGAACTTTGCTAAGAAAGAATGCTTTTCACACACAATGATATCTAAAATGGAGCCTCTGTTCCTGGAGGTATATTTTACAAAAATTCAGTGTTACTATAGGAATTCTGTACACTTCTTTCTTAGACATTTGTATTCCATCAGTGTCAGTCCTCTCTGTATTTTAAACTAAATAGGATTTCTTTTTCCATCTTTCTGTTTGACAAGTATTGTTTTGCTGAAAATTTGCTATTCATGTTCTTTTAACTCATTAGAAAGAATATTTAGGGTCTTTAGTGACAAATGACATGGTATAAATGAAAAGAAAACACTGACATTGTAATTGAGAAATACTAATTAATTAGGAGAATATTATTTAAAAACATTGTTTAAATATTTCTTTGTTTTATTATTATTATACTTTAAGTTTTAGGTTACATGTGCACAATGTGCAGGTTAGTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATCTCCTAATGCTAAACCCTCCCCCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAATATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTACTGAGAATGATGATTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTATATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTACCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGAGTACATAGCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGATGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCCTACAATGAACTCAAACAAATTTACAAGAAATAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAAACATTGTTTAAATATTTCTATCACAAATTGACAGCAGTACAATGCACACCACCAGCAATGTATAATTCTAGATATGAGAGGTAAAAAGATAAAACAGGTATTGCATTTTCTCCAGAAAACTTATCATTTAGTGGAAACTGGCCAATAATTTCTTAGGCCTTAGGATAATTTTACCTTTGATTCTCTAGTTAATCCAAAATATATAAAAATATTAACCAAAAGTATATATTTTTAAAATGCCTACATAATCTAATGCAGTATTTTTTGCTCTCTTCTTGAAGTGAATTAAATTCCTTATCACTGACCATAAAATTGAACTCCATTGATGATTCTTATTTAAAATAGTTAAAAGTGAATGTAAAGATCAGTTGTGGTTTTCCTTTTCTTACCCTTGTTTTTACACTTATATTTGCCTGTGTCATTCACACACTTTTAGAATTCAAAACAATAACTAGAAATGTAATCATTTGCTTTTCAAAAGCTTTTCGCATCTTTCCAAAGTTAATATAAAGTCTTACAAAACTTTTAGCTAATTCACAAAAAAATCAAACATATATAGTTGAAGCAATTTTTTTTTTTTGGTAGATTTCTTCAAACCACAGAAATTTCAGTTATGGCATGGTAGGTCTTTTGAAATGTTTCATTTTTTGTATTTGAAGATGCAGAGCAAAAGTATTTCCACTCCAACTCCCCTTTAATAAAAATTGAATGTAACAAAAAAATCAAAATCTATAGGAAAATAACCCCTTCATCTATGTTAAAACTATGAGATTTCCAGCCCAAATAAGTTATAAGAACCAGTATAGAGTCCAGGCTCGGTGGCTCACGTCTGTAATCCCGGCACTTTCGGAGGCTGAGGCCGGAGGATCATGAGTTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCCCATACCTGGGAGGCGGAGTTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGAGATAGAGTGACACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACCAGTATAGAAATACTAATACAGTAAAAGGTGGACTTATATATAAAGAAAATAACCAACAGATTTTGTCTATGGCACAAACTTCTTAGAAATTTTGAGGTCTTTAGCCTTAAAGACCTAATCAAATATTTATTACTTTGAACAGTGAGCTACTGGGATATGCTGGGCTTTGAGCCTATGTACAAATCTAATTTTAGAAGTCAGGACGTGTTGTAAGCAATAGCAAAGAATATGCTAGATGATCAGCTTGGCAATTGTTGAACAAACTTCATTCAGCAGTGTGAGGACGTAATTAAAGCAGTTGACCTTCAATCTATTCACTCTCTTTATTGGCAAATGGCCGAGGAATAAGACTAGAAGGAAGATGAACTGGTTTAGTCTCTTTGTCAGCTGAACTTGTGGTGAAAGAGACTACTGATATTTTCTAGGATGAAGAGATCTTATCTCTGAAATACCCTTTGCAGGTTGCTCCTGACTGAAACAAATTCACAGATTCTTTCTTCTCGCTCAATTTTGCTGTTGATTCTTCATTTTACATTCTTTATTTCATTTATTTTATGCTTTAGCTCTAGAATTTTAGTTTGGGTTCTATTTTTTCAATCTGTCTGTGGAACTTCTCAATTGGTTTGTGTTTTGTTTTTTTTCAAGTTTTGGTTGAATTGCCTATTTATTCTCTTGTAACTAATTACTCTCCTTTAAAACAATTATTTGACATGAAAAACCTTGCAAAAATACAAAAATCTATAAACTTCTTGACAAAGAATTCAAAATAATTATTTTAAAGAATTTCTGAATTTGCAGCAAAAGTTTGCTATAGAGCAACATGAAAGCACAGAAAAGTATGAAACTCATTGATTAAGGTAAATATATAAAAAATACAGAACACTCTAATAGTGTAGTAGTGGTGTGTAAATCAGTTTTATTGCTAGTATGAAGCTTAAAATCCAAAATAATAATAATTATAGCTACAATAATTTGTTAATAGATATAGAATATTAAAAATATATAATGTGACACCAAATATATAAAATATAGTGGGCTGAGTAAAAGTATAGAGTTTTGAATATGATCAAACCTCAGTTTAAAATAGTTTGCTCCAACTACAAGATAGTATGTATAAGCTTCATGCTATTCGGAAAGCAAAAACCTATAGTAGATACCCAAAAGACAAAGAGAAATCAAAGCATGTCACTACAGAAAATCATAAAATCTCAAAGAACGACAGCAAGGGAGAAATAAAGGAACAAAAATATGTTAAAAGGCTGAAAAGCAATGAACAAAATGTCAATTGTATGTTCTTATCTATCAATAATTACCTTGAAGATAAATTCATTCTATTCTACATTCAAAAGCCAGAGTGGCTGAATGGATTACAAAAGGAGACCCAACAATATACTGCCTACAAGAGACTCACTTCAGCTTCAAGGACACATATGGTGTGAATTTAGGGGATGAGAAAATTTGATATTCCATGCAAATTAAAACAAAAAAACAACATGGATAACTATCCTTATATCAGGCAAAATATACCTTAAGATAAAACTCTAACAGGTGATAAAGATGGTCACTATATAATGATAAAGGGATGAGTTGATTAAAGGGATGAAACAATTATAAATAAATATGCACTTAACATTAGAGCACTTGAAAATGTAAAGCAAACATTAATATCTGGAGGGAGAGATACAGAGCAATCAATAATACTACAGATATAGGTAACCTTATTGACACTGTTGAAATTATCAATACTCCAATTACAACAATGGATAGATCATTTAGACAGACAATCTGTAAGGAAAAAAAAATTAGACTTGATCTGCACTTTAGACCAAACGGACCTAACAGATGTATGTTCACATTTCATCCACAGCCGGAGAACAGGTGTTCTTTTCAAGCTAACAAGAAACATCCTCTAAAATAGAGCATACTTGAAGTCACAAAATGTCTTAATACATTTAAGAAGATTGAAATTTTATCAAGTATCTCTTTTGACCACAATGGTATACAACTAGAAATCAATTAACAGGAGGAAAACTGGAAAATTCAAAAAGAAGTGAACATAACACAATTCTTAAAAACTGGTGGTTTAAAAAGGAAATAAAAAGGAAAATAAAGAAATCTTGATACAAAAATGAAAACACAATACACCAAAGCTTGTGGGATGCAGTAAGACAGTGCTAAGATGAAAATTTGAAATGACAAACACCTACATTAAAAAAAACACAAATATTTCAAATAAACAATCTATCATTAAACCTCAAGGAACTAGAAAAAAAGAAGAGCAAACTAAGCCCAAAGTTAATAGAAGAAAGAAAATAAGAAAGATCAAAGCAAAATAGAGAAATAGAGAGTAGAAAAGTAATAGAAATTGAAAGACATTCTGTGTTCATCAATGTGAGAAATTAATATTGTCAAAATGCTATTACACAAAGCAATCTACAGATTCAATGTAATCCCTATCAAAAGTCCAATGGCATTTTTCCAGAAACAGAAATAAATCCTAAAATTTGTATGAAATTACAAAAGACTATAATTACCCAAACTGATCTTGAGCAAGACGAACAAAGTAGGAGGTACCACACTTCTCACTTTCAAGTTATATTACTAAACTACAGTAATATATATATATATATATGATACTGGTATGAAAACAGTCACATAGAAGAATGGAGCAGAATAGAAAGCCTACACCAATATCGTCAAAGAATCTTCAATAACATGCCCAAAACACCTAATGGAGACAGGATAGTCTCTTCAATAAATAGCGTTGGAATTATTGGAGGCCCACATGCAAAAGAATGAAATTGGAGTGTTATGCTATGCACAGGAATAAATTGAAAATTGAAAAGGAATTTAAACATAACATCTGAAACCAAAGAATCCCTAGAAGAAAACAGGGGAAATCCTCCATAACATTGACCTTGGCATGATATTTTGGCTATGAATCCCAATGTATAGACAAGATAAACAAAAATAAACACATACAACTACATCAAACTAAAAGATTGTGGCACAGTAAATAAATAAATAAATAAATAAATAAATAAAAAGTCACCCATGGAATGGTAGAATGTACTTGAAAACAATATATCTGATAATGCATTAATATCTAAAACATATAAGAAACTCATAATCAGAAAAAAAGTAACCTGATTAAAACATGAGCAAGAGACCTGAATAGACATTTTTTCAAAGGAAGATTTACACACGGCCAACACATGAATGAAGAGGTGCACAAAATCACTAAACATGAGGGAAATATAAACTGGAATCAAAATGAGATGTCACATTACATCTTTCAAAATAGCTAATATCAAAAAGGCAAAAGATAAATAGTGTTGACAAGAATGTGTCGAAAAGAGAACCCTTATAGAGTTTTGGTGGGAATGTAAATTGGTACAACCATTATGGAATACAGCATGGACACTCCTCAAATAATTAAAGATGTACCGTATGTTACAGAAATTATACTTTTAGGCATAAAAGTATATACCTGTGGGTGTGTTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTGAGGGAGGCAGATTACCTGAGGTCAGGAGTTCACGACCAGAGTCGCCAACATGGCAAAACCGCATCTCTACTAAAAAACACAGAAATTAGCCCAGCGTGGTGGTTGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCAGGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGCCATGAGTCAAGATTGCATCACTGCACTCCAGCATGGGCATCAGAGTGAGACTCCATCTCAAAAAAAGGGTATATACCTTTTATATACTTTTCCTTTTATATACGATAGAAATAAAATCACTATCTTGAAGAGATATCTGCATTCCTGTGTTCATTGCAGCTTTATTCACAAAAACCAAAATATGGAAACAATCTAAGTGTTGACAGATGAGTAGGTATGTAAATTATGATATCTATCATCTATCTGTCTATTTATCTATCTATCTATCTACAACGGAATATTATTCCGTATTTAAAAGAATGAAATTCTGCCATTTCCAACAAAATGAACGAGCCTAGAGGATATTATGCCAAGTGAAATAAGCCAGGCAGAGAATGAAAAATACTACAGGTACAACAATGAAAACTTGCCATTATAAGATGAATAAGTTATGGAGGTCTAATGCACAACAGGGTAAAAATAGTTAGTAATAATGTATGCTTTAAGTTCACTGAGTGTAGATCTTAACTATTACCCTTTCCCAACACATGATAACTATGTGAAGACATGAATATGTTAATTAGCTTGATTGTGAAAGTCCTTTTAAAATATACTTGATGGGCGCAGGGTGAGAGGAGAGTGAGGGTCAAAACACTACCTGCTGGGGACTATGCTCACTAGCTGGGTGATGAAATCATTTGTACACCAAACCCCAGCAACATGCAATTACCCACGTAACAAACCTGCCCATGTACCTCCTGAACCTAAAATAGAAGTTGAGAAAAGAAAAAAAAAGATATCAATTTCCTATAAGGAGCTCCAGGTTTGTTCCAAACAGTAGCGAGACAAACAGATCAAGGATGAAATATATAAAATAGTAGGCAAAACGTAAACAACATGTGTAAGGCAATCGATTCTATATAACTCAGCAACTCCTAGGGTTCTTATCAAATAAAATCACTGATGTGTCATAACTTCTAAACTAAAAACAACACAAATGCCCATTCACAGTAGAATGAATAAATAAATTACTTTTGCTTCCCGCGATGAATACCACACAGCAATTAAACAATGAACTGCTGCTACACAAAACATAGATGATTCTCACAAATTTCAACTGAGTGAAACAAGTCAGACTCAAAAGATTACATACAGCAAGTTTCCATTTATATGAAATTGAGGAGTAGGGAAATCCATCGTGATAGATTTCATGATAATGATGACCATTGGTGAGTAACTGGTTGAGAAAGTGCGAGAGCCAGGGGTGTGGGAGCTGGAAATCGTCCATATCTTGCTTGATTTGGGTGGTGGTGATAGGGATATATACACTTATAAAAATTATAATGCTATATGCTTAAGATTTATGTATTTTACTATTTGTAAGATATATATTAGTTGAAAAAATGCTTCAGTGTAAAGGAAACCAGTAAAAATACGCTACCTACAATTGTAGCTTTTGTTTATCAAAAAAGCATTTGAGTAGTCTATTGATTGGTAATTAGCAAGTTTATGTTAAGCAGCCTTGTCCTGAATACTTTTTAGTATGTACCATTAAGCATTTGCCTTTCTCAACTAGGGCTAATTAAAAAAAACTCAAAACCTCACATTGTACACGTTGAATATATATAATTTTAATTTGTGAATTATACCACCATAAAACTAAAAATCTAATTAAGTTGAGTTTGAATACATTTTAGGGAAAATACGATAAAGAAAATTAGGAGCTTAAGAATATGCATAGATAAAAAATAAACTTGATAGAAATATTATTTATATATTATATATTATGTATATTTATATATATTTATATATAATATATAAATAATAATATATATATAAATAATACTATATGTATTTCAGAAAATCATATAAAAAGCTGTGCTAAAATTTTCCAGAGAGAGAGTAAATAGTTCTCCTGTAGTGGATTAAAATGAGATTAGCATTGGAGTACTAGCGTAATACAACAGATAGAGTCTGAAGTCAGATCTCAAAAATACAATATATTTGCTAAGTAATGCGAGACAAGCTATTTAAAGTTTTTGGACCTAAATATCCAGTCTGTAAGTTTGTTGGAAAAAATAAATACGCTAATAGAGAACTTAACTTACAGGGAGTGCTAAATTATTACCTGTTACTGGAAAACATAATATCAGTGACATTAAAAGCTTGAGTGTTGTAGAACAATATTTTGAAATATCATTTTTTGAAGTTATATACATATTTATATTACTTTAATAATTTGCACAACATAGGAAGGAAAGCTTGCTTTGCACAGGCAACATTTTTGCCAAATAATCTTTAAATCATCATGAATTCTCAATTAGATTAACAATAATAAAATTTTATTGTAGAAGACTATTTTTTCATTAATATAGTTGTACATGCACATAGGGTAAATGTAATATTTTGTTACTTGCCTAAGCTTTATAATGATCAAATCAAAGTAACCAGGGTGTCCATAATCTCAAGTATTATTTCCATATGTTAAGAACATTTCAAGTCCTTTAGCTATTTTGGAATATACAATACATTGCTGTTTATATGTAGTCACCTTACTCTGCTATGAAATATTAGAACATATGTCTTCCAAGTAATTGTATGTTTGGACCTATTAACAAACTTTTCTTTATTCCTCCCACCCAGAGAAACTTTCCAGCCTCTGGTATCTATCTATAATTCTATTCTCTACCTCCATGAGATCAATATTTTTAGTTTTCATGTAAGAATAAGGATATGTGATACTTGTTTTTCTGTGCCTGGCTTATTTCACCCAACACAATGACTTCCAGTTCCATCCATCTTGCTGTAAATGATAAAATCTCATTCTTTTTTATGGACAAAAAGTATTCTACTGTGTATATATATACCATGTTGTTTTTATTCATTCATCCATTGATGGACAGAGGTTGATTTCATATCTTTGCTATTGTGAATATTGCAATAAATATGAGAGTGTGGTTATCTCTTTGATATACTCATTTATTTACCTTTGGACAAATAGCTAGTAATAAATAGCTTGCACCTCTGGTCTCAGCTACTTGGGAGACTAAAGCAAGGGGATCACTTGAGCCCCCGAGGTTGAGGTTGCAGTGAGCCATGATCACTCCACTGCATTCTAGCTTGGTTGACAGAGTGAGAACCTCTCCCTCCTAAAAAAATCCTTAAGAAATGTGTTGATGCCTGGTTCCCTTGGTCAGAATTTTCATTTGATGTGTTGAGAGTGTAGCACAGATGTTGGAATGAACCTCTCAAGCTGATTTTAATGTGCAACCAAGTTTGAGAACCACCAAGGAAGAGTTTTTATGAATTAAGATTCCTATACTCTATCCTAGAACTAATACAACTGAATCTCTGGGAATGGAGTATCAGAATCAGATTTGAAAAGGTTTCCTTAGTAATTCTAAGGACTGAGCAGTTTGGATACTCGTTTGTTAGAGTAAAATGGTTAGGTACCTAGTATCAACATAGGCACCCAACCTGATATTAATAACTAGGAAAATAAAGGGTTGGCGCCTCTGTGTTTCTTTGTTGAAAAATCTGATACTATTCTTAGTTCTATGAAAACAATTGAAAATTTGGTTATTATCACCTTAAAAGTACAAAACCTATAGATATTGAAAATGTAATTATTTTTCTATAGGCATAGTTGAAATGATTTTGTAAATGTTATAAATCAGTTTCTTTATAAGCAGTTCATTTACATAAATTTTGTTAAACTGACATGATTCACTAATTTTCTAAATATAAATGGTTCAGCTCTCAGTTATTTTTAAACTAATGACCTGTGTTATACTTACTATTTTTAATGGGCTTTTATGATGTTTTTAGGTTTCTTTGGATTCCCATGTCCTTCAAGTGCTTTGCAACTTTGAGAAGAAGAAATTGACCACCTGGACTATGGAACTGTGCATAACAGCTTTGAAAGTGTATTTAAAAATTAAATCCATACGCCTTTAAATCAGTAAATTGGAAATATATTACATGTATTGTAATGACTTTCCTCAGATATAATAAATTGTTTTCTTTCCAATGGAATAGTGTTTGCATTTTTTGTTTACCTGGTTTAAGATGTGCAGCAGAACATAACTAGATGATTACATAATTTCTTTTTAAGGCAATTTTATAATATATTTTATTTATGATTATAAAAACTGCCTTTAAAAATTCTTACATGGATATCAATGCAGTTTCACTTTTTTTATTGTAATCTTTTTTATAATTATTTTATACTTGTCTGGCATTGAGTTTTATTGGGCTTTTGGTTTTTTGGAAGTAGGGTATTTATCCCAATTTAGAAAATTTGTATCCTTGCCATAATACAGTCTTCCATTTTTGTACCCCCAAATCTTTCATCTGTCAGAACATCACTCAAAGGTGAAAATATTTCCCACATAAAATTATTCTGTTCCTTTAATGAAATGAGTTTCAGCTGTATATAAGTAGGAAAACTTCCTTTTGTTCTATTTGATTCCTTTTTACGGATACTTTCTTGAGGCTGTGATTACACCTTTACCTTAGAGGCACTGCCCAAAAAGACTCAGCTCTTCTGTAAAAATGCTGTTATGAATCATAGCTTCTTAACTTTTACAACATAGTGAGGTAGGGAAAGTAAGAACACTAGAGATAGGAATTAGAAGCATGGAGAAGTGAACCCTGGAGCTTCCCAATGGTGAGATACCAAATAGTTCAAGAACTAGTAAAGAAGACTACGGAGGAATAGCTAGAAGCTAAATGAAGAAAGTATCTCAAACAGGAAGGAGTGATCTGTTAATGTGTTAGGAAAGTTGAGTTCTTAGGATTAAGCATTGGGTAGAGCAAGATTTGGGACCTTGACTTTGACGAACTTGGTGGATGTCAGGAGTAAGAGGAGGTATTCAAGAGAATGTTGGAGAGGAATTTAATATAGTGAGTATTGAGGACAACACTTAAGGAGTCTTGCTTTCAAGGGGATGTGAGAAATGGGTTGTTAATGGAGGGTAATGTAGTATCAAAAAGCTGTTTATTTTGAGATCGATGATATAGTAGGTTTGTATGCTAATGGGACTGATTCAGTAGACAGAAAAAGCATAATGCAGGAAACAGAGGGATATTGCTGAAGCCATAGACCTGGGACACAAATAGAAGGGTTAGTTTTAAAGATAGGCCCACAAACAGCTCATTAGTAACAGCAGGATGAAGGGCAGATTATGGAGTTCCAGATGTTTGTAGTCCAGTAGATAGGAGGAGCATGTCAAATTTTTGTGATATTTTCTCAGTGAAACAGGAAGCAAGCTCATAAAGAGGGAGGAAGTCACGAAGGAGTAAGGAAGGAAAAGGAGATGTAAAATGAATAGATAGGAGTGTAGGAAAGTAAGCATACTCTTAGGAAATCTGTGGTTTATTTAAGTGGTATCAGTCAATGTGGTTCTGTGTTTTTCTCCAGTTGAGTTCAGCATAGGTGCTATCACTGAAAAAGTACAGAATTCAGTTTAACTAAAGGTGAGATTTCTCTAGGTGAATAAAACAGTCAGTGATGAGATGTTGATACATTTAAGAGAATGATTATAAAAGAGGGATGTGGAAAGTAGTCTGGGTTAAGTAGTGAAGTGAGAAAATAAAGAAGGTTGAGACAGTGGAAAATGGAATGATCAATTGTAGATTGCAGTGTGGTTGAAGATGCAATGGACTTCTTGAGGTGGGAACTAGAAATTTGGGGGATATAAATAAGAGAGGGGTGACTGAAATTGAAAATATGAGAGTATAATAGTATACAATATTACTAAGTATGGTATACTAAGTATAGTAGAATAGTACTAAGTATAGTAGAATAGTACTAAGTATATAGTACTTAGTGAGTATAAGTTTTAGGATGTGAAGAGGGGAGTAGCGTAGAGGCAAGGTGATGGAAGCAGATGAGTTCAAGAAAATGAGAACCTAGGAGATTGAAACCATTATCTAAATGAATTCTGAAATCTCAAGAAGAACTGTGCTGAGTGCTTGTAGTCATTATTTTGTCTTTACTACTCTGTGAGAAGACAGCACTTCCTTTTGTGAGTAATGGAAAGTTCTTTAATATGTCAACTGTAAGATACTTTATTACATTTAATTATCTTTAGTAATGCATAGTAATAACTAATGACCTCAGTAGGATTATTCAGTAGATATGTGAGCTAACCCCCTGTGTCAGACACCTAAGAGGAACAACTGATGTTTTTCAAGACGAATAGAGGGTTCTCATCCCAGGGTTTTAAGCTGCAAAATATCCCACCCTATATTTTCTGAAAACAAACGTTATATAGAGTGTCCACATAAAAGCTAACAGGAAATATTACACACACACACACACACACACACACACACACACACAGCATTGAAAATGCATCAGGAAAGATATACCCTGTACCCAACATGCACAAGGTCTAAGCAATGAAGAAAATCTAGGAAATCAAATAAGACCAGAACATCTATGACTAATATATAAATACTTGAGGCAGTTATATCCATTTAAAAGGTGTCAATTAGACATGAAAGAAAAAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAACGCAGGCGGATCAACGTGAGGTCAGGGGTTTGAGACCAGCTTGGCCAACAAGGTGAGACCCCGTCTCTACTAAAAATACAAAAAAAATTGCTGGTTATGGTTGCACGTGCCTGTGGTCCCATCTACTTAGGAGGCTGAGGTAGGAGAATCATCTGAACCCAGAGGTAGAGATTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCTTGGGTGATGGAGTAAGATTAAAATATATATATATACATTTTTACATAAGAAATTTTATTTTAATTTTTTTGTAAATTAGAAAATAGCAATTAATATGGTATTTATATACCAGAATCTTTGAATATCTAAAATTTAAGAAGATGTGAGCAATTTCATGAAACTTTTCAAAGCTTAGAAAAAGGTAGCTATGTAAAATAACAATGTATGTTGTTTATGGGAACATTAGATGAAGTAAGTCATGAAAACATGCATAGAAATGATCATATAAACTTGCAAGAAATTGAATGTCTTGCTATCAAAGGAAAGGATGGAGGTGTAAGAGACTGAGGTAGAATGTGAGAAGCTCTGTATATATTGTATTTTCCTTAAAAATATATATTTAAACTCGCATTTCTTGTTTTTCAAATGTTCACTCTAATGAAAATTCTTTTATTTTTCCTGTTACAGTTTTTATTTCTGATCTCATATATGCAGTGTACTGTTGTTCAGAAATATCATTGATCCTCCCTGCAAATGAAATACTCTCATCCTGTTGAATTTGAGAATGTACACATGATTTGCTTTGGCTTTGAAATGTGAGCAGAAAGAATGTTTTACTTTGGGGAGTTCCCAATTGCTAAACCATGTGTCAAAATGAAGTTTTTGTGACATTACAAATGGACTAATAAGAGTGCCTTTGTTGATCCTAGTTGAACATGAGAAACTTGGTTATTGTAAGCCACTGAAAAATTTTAGTTTCTTTTATTACTGCAGAATAGCCTATTCTGTCCTGATTGATACAGCCACAACATTTCCTTAAGCTCTTTGATTTTCATATTGCCATTAGGATGTAGAATGCCAAGAGAAGGATAAATCATAGGATCAGAGAATGTTAGCAGTGAACGAGACTATTGGAATACATTTTTTCAATGGTTTCCAGACTTTGGGTTCTAAGTAATCAGTAATATTTCGAAAAAGTAGTAAAAGATATTTCAATATAAAAAATAATGACATTTAACTTTGAAAAAAAAAACCTATCATTGCTAGGCATAATGGGTCTAGCTTGTAATCCCAACAACTTGGGAGGCTGAGGAGGGAGGATCACTTAAAGTCCAGGAGTTTGAGGCTGCAGTGAACCATGATTGCATCTCCACACTCCAGCCTGGGTGACATAGGGCCACCTCAACAACAACCACCACCAAAGCTATCATTAATACATTGTTCCTCTGTCTCTCTTCCCATCCTCCTTACCACTTAGTCTTAAATCTAATCTTATTAAACAATATCTAAGGAAAAGATAAGAAAAATGATGGTTGCATCTATACTGAACATGTGTTGACTTTTTTCTTGTCACTATTTTCTAAACAACACAGTATCACAACTTTTGACATAGCATTTATGTTGCATTAGTTATTATAAGTAATCTGAGATGATGTAAAGGTTATATGCAAATATTATATTTTATATAAAGGACTTGAGTAATTATTACTTTAAGTATCCATGGTGGTTCCTGGAACAAATTCCTCATGGATATGGAGGGAGGAGGAATCACTGTAATTAAACAAATCATCACTTTAAAACTTAAAACCTTTTGCATGTTGAATACAGTCATGCACCACATAAATGATGGTGGTCCCATTAAGTTTATTATGCCATATTTTTATCGGAAGTTTCCTATGTTTAAGTGTATTTAGATACACAAGTACACTGTGTTACAGTTGCCTATAGTATTCAGTAAAATAACATGCTTTACAGGTTTGTAGTCTAGGAGAAATAGGCTAAGCCATCTAGGTTAATGAAGTCCATTCTATGACATTTGCACAGTGGCTTAATTACCTAAGGGCTTTCTCTTCAGAACCTACTCTTGTCATTAAGCAATGCATGACTGTAGTTGGACAAAAAATAATAATGCAGGCATACCTTTGGCACTGTCCTAATTCTTACCAGCATCCATGATTGCTTAAATTTGCACTGGAAAGACTTCAAAAAACAGTGATATATTAGGACAATATATTTCCAGTACATGACAAATGATAACAACATAAGAACTCGAAACACTCAATAAAAAACAAAAAATAAAGCAAAACTAGATGGGAAAAGGAAGAAGCAAATTTCAAGAGAAAACTCAAAAGGCCAAAAAATGTGAAATGATGTTCAGCCTTGCTAGTAATTGGGAAAAACACAAATCATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCACGCTGGAGTGCATTGGCGTGATCTGGGCTCACTGCCAGCTCCACCTACCACCTTCAGGCCGCCATTCCCCTGCCTCAGGCTCCAGAGTAGCTGGGACTACAGGGGCCCACCACCATGCCTGGCTAGTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCGTCTCCTGACCTCGTGATCTGCCCGCCTCAGCTTCCGAAAGTGCTGGGATTACAGGAGTGAGACACGTGCCCGACCCAAATCATTTTTAATCTATTAGTCAAAAATTAGAGCTATGATAATATTAATTTTTGGTGGGAGTGTGGCAAAAGGTACTATAATATACTGCTACTAGAGAGTAAAAATTGATAAATTTTGTAAGGGCAATTTTGCACAATATGAAAATATAAAAATATGCTTCATGTTTACCATACATTTATCTAGCATACAGAATTACCCATGTGTAAACATGTATACAGATGTTCATTATAACACTTCTTATAAAAACAAAATATTTGGAAATAAATGTTCATATTAATAAGGCGCATACCGTATGATCTTAGTCCAGTTAGAATATTCTGTTTTATTTCAATCCTTTAAAAGACTCAACTTCTGACTCTATATAGACGATTAAAAAAAGAATGTGTTCTCCCTTTGTGCATTTGGTCAGGTAAATTAAAAAATACACCACATGCTAGCCGCACCAAACTGGAATAAGCCTTTGGAAAGAAGTTGTCCTTGAAGCTTGTATCTGACATTGTAGCAGGACGAGCCTCAGACAAAACCTCTCAGACACTGAGTTGTAGAAGGAAGGGCTTTATTCAGCTGGGAGCATCGGCCAGCTACTGTCTCAAAATCTGAGCTCCCGGAGTGCACAATTTCTGTCCTTTTTAAGGGCTCACAACACTAAAGATTTCACATGAAAGGGTCGTGATTGATTTGAGCAAGCAAGGGATACGTGACAAGGACTACATTCACTGCTGGTCAGGGAGAAACAGAACAGGGCAGGGAGTTTCACAGAGTTCTTTTATACAATGTCTGGAATCTGTGAATAATATCAGCTTCTAAATCATAAGTTGATTTTTAGCTACTGGGTTTAGGCCAATCAGGCCCAGGCCTGGTTTCAGGCCTGGCGCTGGGCTGCATGTCTTTGGTTGTACTTCCTGGTTGTTTTTACTGAATAGAAAACAATATAAAACAAGGAGAGGGTCTTTGTCTCCTCTCAATATCAGCACTGGATTGTAGAATGTGTTGCTGATTTTGACCTTGTATTCAAGTTAACTGTTGCCCTTGGTATCTGTACATATCTTTGATTTCAGTCTTTACTACACGTGGCTTGGTCACTTCATGGCTAAAAACATGCTTGTGGAAGACCAGTCTGGCTCGGTGAGTCTGTGCGGCCAGCAGTCTCTGATCTGTACAGGGTATTAATGTGTCAGGGCTGAGTGTTCTGGGATTTGTCTAGAGGCTGGTAAGGGCTTCTGGACCACTTGTTTCTGTCCTGTCAGTCTGTCAGGGTTGGAAAGTCCAAGCCATAGGACCCAGTTTCCTTTCTTAGCTTACGTTATCTACCAGAGCACCGTGGGCTGTTACTTACCTTGAGTTGGAAGGGGTTCGCATTTATACCTGTAAAAGTATTCATCCTTTTAATTTATGTAAAGTTTTTTTGTATGCCATTCTGGATCTTTAAAGAGATGACAACAAATTTTGGTTTTCTACTGTTATGTGAGAACATTAGGCCCCAGCAACAGGTCACTGTTTAAGGAAAAATAAAAGTGCTGCCAGAACCTAAGAAAAACATTAATATCTAAAAGGTCATTTAGATGATTTCCATGAGAGACTTTTTGATGTTCTTTACCTGTTAGGATTATTATTGATAATCCTTTTCAGATTATGAATAAACAGTTTGCCCTCAAGTATTTATTCA	.	.	.	.	.	.	.	.	.	.	.	.	.	233	55	218	0				ENST00000361355	.		.		.	.	.	.	.	-	.	protein_coding	YES	CCDS782.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCATGCTAATATTTACTTTGTAAAATGTGCTTCTTACAGGAATATAAATAGTTTCTGGAAAGGACACTGACAACTTCAAAGCAAAATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAATACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCTCTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTGGGTATGATTCATAGTATCAATTGCAGAATTCACTATGCTTGTAGTAAATAGTATTCTGATCTTATCCGTGAAGCTTAGGCAACATTTTACTTCACAGGTAAGTATTCTAAGTAAGAGTTTTCTGAGGAAAAAACAATGTAGTATTCTTGGCAACTTTATATTTTGTTTCTGAGATAATCTTTCTTCAACAAGAGCCCTCCAATGTGCTGTTAATATTTTCAAGAGATAGCTGCATATACCAAGATTCAAGAATTTTTTATATTATTGATTAGTTTCTAGAACATTCAATGATATAGAGTAAGAATTTGGTAGTTATGAAGACTGTTTAATTTGTAGGTCTCTCCACCAAATGAAAATGTTGCAATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTTAGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGATGTAACAATGTTGGGGTAAGTGAATTCTAGTTTCCTTGAAAAATAACAGATAGGAAAATGATTTCTCTCTCTTCTTTCTTGCTCCTTTTCAGCAGAAAGTTTTCCATATTTTATTTTTTTAATTTTACTTCATACTTTAAAACTCAAAATTAACCGTTGCCTTATGTTCAGCTTTTGTAAATATTTGTGTATGTGCTCTCTATCTACCAAAGAAACAAGTTTAAAGCAGAATTTACTTCTAAAGCAAAACATCAAATTTTAACTTTTATACCTATCTATATTTCCTGGAAAGAGTTTTCTGGTTAAGAGTTATAATTCCAGTTACAATATTTGCTATCATTTTTAGGTGACTTGTATCTCCATCCATAATTCCTGGGTTTTTCGTGGTGACTAGCTAGCTTCTCTATTTAATGAGGAGCATAATTTGAGACTAATAGCTCCCTTATTTGTCTTCAAAAGCTTAGTAGAGAGTACAGGCTTTCTCCTGGTGACCGACTGTAATTTCCAAAACAGTAACCTTTCCAGTCTCATCTGAGTTTTGTCTCCCCGAAATGGGCTTTTTGCATTTCCTCCTATTTATGGTAGTTTCTGGTTCTCTCAATTTACCATTACTATAAATATTTGACCAAGTGTCTAGAAGGCATGTAGGTGTTTAGTTCACATTACTTCTTCACAGTTGATTTTTGATCTTGTAGGAAAATAGTTATAAGATATCATGAAATATTTTGGAGTTTTATTAACATACTATAAACTTGAATCAATAATGCTTTAAATTTCTGCCTCTCTGTAAGTCACACTGAAGTAGAAACTTTGCTTTCTAGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTCTGGTAATGCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGACTTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGTGGAGATATCGAGAACTACAATGATGCTACTCAGGTAAATTTTTTTATGAGAGTCATCTGAATAAGGGGTGATATATGCCTTTTCTTGTAGACATGTAGCTAATTGAACTTCATTTTAAATACGAATTTAGATCTCTTAGGGACACAGGTTAACAGGTTTGACTACTTTAAGAAACTCAAATCCATATTTAAAAACTTAAATATAGATTTAAGATTTTTAATCAATACACATTTGCCCACTTTTAAAAAGCTCCCAACCAATTAAAAAGCTCGTCGACTTTATTTCCTAAATTCTCTATTTTCTATTAGAAAATATTTCCAAGATACATCTATAGTAGAATGTGAGCATCCCCAGCGCCCAATGCAAGGAAGTCACTATAGAATATCTCTTGAGGAATCATGGAATAAATGAATAATCAAATGGATTCTCATGTGAAAAATGAGGTTTTATGAATCAATCATAACATTTTTACCTCAACAGGTCAGAGATTGTCGTCTGGTTGGTCTTCTTGATCTTGCACTGGAGAAAGATTATGTGCGTTCCAAGATTGCCGAATATATGAATCATCTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGAGACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGAAGTAAACCTTTCATTTACCAGGAGGTACATCAATACATATATGCATATAAAATATCATCTTATTCATTAGAAAATAATGGCAGATTTAATTAAAAATGCAATTTCTATAGGATAAGGACTGAGTCATTTATATAAAATGGTGTTCTTTAACCTCCTCTTCACATACAGCATATCTAATTCTTTATCACAAACAAAACAAAACAAGACAAAAAGAAATAATAAATAGCTTAATTTATTAATAAATAACAAATAGCTTAAAGCTATCTTTTATATAATATTAACTTATTGGTTAAAATGCTTTAAAGTCCTTATGCAAAATGTTACTTTTTCCTAATTTTCTACTAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTTATTCGCAAGTGGAATGGAGAGAAGATGTCTTACCTAAAGTAAATAAATACAACTTTTCCCCTGAAGTATTTCATAGATTTATTAGTCATAGTACCCCAGTGTGAGTTATCTTCTGGAACATTCTTTTTCAGACAACTATCAAGGAGTCAATTGTTAATGATAAGTATTCTAGTGCCCTAAACTCTAATCAATCATCTTTTGTATTTAGAGTGTCTATCACAAGTGAGTATGCCTAGGAACGCTAAACATATCCTAGGAGTTTCCGTCTAAGTACGAGATGAATATACTGGATTTGACTGATGTTTGCATATAATCTTTTAAAGCCAGGTTATTATTAAAATGATCCTATCATTTATAAAGTATGTACAAAGTTTCCATACTGTAGAATTTACATATATTATATGAATTAAAAATATAAAAATATTTATATTATAACAATACAGTATTGAAGCCTTATTTTAACCTAGTTTGACATTCCGTAAAATGTGATATGGATATTGATCCTTCTGGAGTGCCTCTAAATGATAATGTGCTGAAACCTCTGAAAGGACCTTTTTTAATAACAAAAATCTTATATTTGTAATATGAATATAAGTATTCCATACTTGTATATACGAATATAGACTACATATGTAGATTACACACGTGTGTGTATATGGTGTGTGTGTGTATATATATTTGAGTGTGTGTTTGTGTGTGTGTATGTATATATATATATATATATATATATCTTACAGAATAACCATTTAATTAGAGAAAGAATTTAATCTTCAGATGCCATGCCATGCAGAAAGAGATGCACAGTTAAGTTACTCGCAAACTATTGTGAAATGATACATCAACATATATCTTATTTTTCAAAAATAGGAACTGGGGAGAAGGTTGGGGTTTCATGCCTTCTGACAGAGCACTTGTCTTTGTGGATAACCATGACAATCAACGAGGACATGGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGTAGAAAACCAAGTTCTCTATTTTTTTTAACACATCTTTTAATGATGGTAATGATATTCTGATATTCTGTGATAATATAATTATGTAACTTTCAGGCTGTATAAAATGGCAGTTGGATTTATGCTTGCTCATCCTTATGGTTTTACACGAGTAATGTCAAGCTACCGTTGGCCAAGACAGTTTCAAAATGGAAACGTAAGTTTTGAAATTGTTCAAACTATCCTTTTCTCAAGAAACAGAAGGCAATCTTGTTCTAACTTAATATGACAACTATTAATTATATATTCAACAAATAATTGATTAGAAACCTGATATAGGGCTGCGATTTTAGTAATGCAGGTTATATTAAAGGAGTAAAATATATATTTTCCATTGACAAAGAGTATGCAAGCCTTTTCAGACATATGATAAACATCCCCCTAGCCCACAGGAAAAAAAAAAAAACCACTTAAAAATAAGAGCTAGGCACAGGGATTAAAATATATACTTCGAATAAGTACCTACCTCAGGGTTAATAGGAAGATTATACATGCCAACACTTTTAGAGAACTTAAAACATCATCTGCCCACAGTAAGAACAATATAAATGTTCGTTAAATATTTTTAAAAAGTTATATGGAATACAAAAAAATGATTCAGTTGAGCTGAGTTAAATAGGGAAAAGTATCTAATAAGAGGAAGGAAATTATATGTACTAAAGAATGGAAATTTAGAGAGTATTCCAAGAAAGGTAAGAATGAGAAAAATATTTGGGAGTATGGTAAAGACATTTATCTGATGAGTAGTTTCAAAAAGGAACAGAGAAATAAGAGTGTACAGATATTTGGAAAGCTAGTAGAAGGTTTTCTTTAAACTAAAGGGTTCAGAAACAGCATCAGAGACTTCAGATCTAAAGCAGAAATTCCTCCTTCCTCTGAGTCACACAGATATCTAGCTAGCTTTTTTTAGATTCCTTTCAGTTTGAGAAGTCTGTTACTTTGTATAGCAACTGATTCTATTGTTAAACAGCTTTAATATTTAGGTGTACTTTTATATTGAGCCAACTTATCATGATTTCTACTAATTGGTCTTATTTCTGATGTTAAGGGTCACAGAGTATTTTTATTTTTTCTATCACTATAACTTTTCCACTTTCCAGGACTGCTGCATGCTAAAAACTCTTAGTTTTGTTCACTTTTCACCATATGACATAATTCTAAGGTCAACACTGAAAAACTTCCTAGGGTTACTCTGGTTTTTTTAATTAAGATTTTTTAAAGTGCCAATCAGAAAAACATAATATTAAAACTGGTGTCAATTTATAAAAAATGTTCTGATGTATTGTTTTGTACAATTATCTAAACAGAAGCATGATGGACTCTAATATTTATTGAGCACATGTCACGTTCAAGGCATTTTCACATATATTACTTAATTTTTATAGCAAAAAAACAATATTCCCATTTTACAAATGAGGAAACTGAGACACAGAGAAATTATGTATGTTGATTAAATTTTCTTAGCTACTGTTAATAGAGCCTATGTTTTAATCCTGGTGTTTCTGGTACTAATGCCCTTCCCATTTCAATGACATTGCATGGCTTACAGTGATGTTAAGAAGCCCTTGCAGGCCAGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTGGCGAGTCCAGGCGAGAAGATCAGCTGACCTGAGGAGTTCAAGACCTATCTGGGCAAGCTAGCAAGACCTCGTCTTTACTGAAAATTTTTTAAAAATTAGCTGGTTGCGGTGGTGCACACCAACAGTCTTAGCTACTTAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGATCAAGGCTGCAGTGAGCTATGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAAGAAGCCTTTGCAGTTCCTTGGAATGAAAAGGAGAGGATAACAATTTGTTACCTTTGTTTGAAATATGGCAAAAGAGAACCAGAGGATAGAGAGATGATGAAGACCCAGTAAAGGGCTATAAAAATTATTGAAGGCATTGGATTCTAGATAAAGTCATTGAATGCAGAGACACAAGTAACAGGATAGGTTGGGTTTGGTTTAAAGGAGAAGGAAGAGGTAAATATATGTATGTTAAAATTTGGCTTTTCACCCCCTAATTAAGGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGAGTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAACATCGATGGCGCCAAATAAGGTGAGAATATGTATTTAGACATGTCCTCTAATAGTAAACTTTCCATTGCATTTTATTTAAAACAGTTGAAGTTTAAGAATATCAACGTTTTATATGGTATTGTGTTTTTAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCTTTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGATTCATTGTTTTCAACAATGATGACTGGTAAGTACATATCAATTAAAAATAATATTTTGTACCTGTATGCTCTTGGTTTATTCCTTTTTTTCTGTTCATTGACATTTATCATATCTGAAAAATCATGTAGTCAGTGGAGCAAGAAGACAATAGACATCAAAATTGGGCAGAAGTAAAAAGATGATGGCTGTTACTCCTTCATTCTCCTGTTTTATTAAGGGCTTTCTGTTGTAAGCAGAGTCCTTTCTGTGCACCCTTGCAATATCTTATGCATATATTGAATGCACATACATATGCTCACCTACACATGCCACAAAATACACAAAGTAGTTAATATGAGGATTGTGAAATCATTAAAAGAACATGTCTTATATTCCTGTTTTTTTAATCATGGAAAAATGCTGCCTGAGTACTAATATATCTTTATTTCTAACTCTTTTTCTCAATGACTGCTCTATGTAGTTTTTTGGTATACTTTCTTCACTTCTCTGTCTCCTTGTGACAAATAATATTTTTAAAGCATATGCATAAATAATATGTATCTTGTGGTTAATGATTGGCTTCAGGGGATTTGAGTTTTAGTTCCGAAACTTCTCATTATTGGCCTTTCATCTGTGATTCTTATATCCTTTACTGAAGTATAAATGATTCCCTAACCTATAGCTCAGAAGACCTCGTTGCAAACAGTTGAATTGTCTCTGTCCAAAGCCAACTGATACTCATACTTAGCTCATTCTAGTATAAATTATATTTCACTGATGAAAAATAAATAAATACATAAATACATAAATCTAGTTGATCTCTTTCCTGCCAAAAAAGCCCATGTCTAGTTCTTTAATTTCTTTCTTTTGTGGATGAAAATACCAAAATAAATTTTTGTGAGAAAGCTTTATATTTCAAACTATCACTTCTTCATAGAAATGCTAGATTGTTTCTATGTATGCCCCAAATTCTTTTTTACCTTATGGGGAAAAAAGGAGATTAAAAAAATAAAACCCTTTAAAAATTTTTTTTTAAATTATACTTTAAATTTTAGGGTACGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACCCTTTAAATTTTTAAAAGTAATTTGTATTAAGTTCAGTTGAGAACAAATTTGATTTTAACAAGCTAGCACTTTTATCAAAGTGTGACCATTCCTGCCAATCTTCAGTGATATTCTTCAACTTTGATTTTTTGGTAATATTTTCACTACGGACCAGGGAACTGCTACATTTTCTGTAAGGTTACTTTTGGTCCTAGAAAGCTATTTACAACTACTAGGGAGGCATATGGGTTTTCTTCTTAATGAGACTTCACTGCTTAGGGTTCTACAACATAAAGTTATGCTGTTTAGTTGTGTTAGCCTGTATTCTTGATTTTCAGTGTATTGAAGTTAAATCTGAAATTTTATTTTACAGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATTAAAATCTACGTTTCTGACGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAGGATCCATTTATTGCAATTCATGCTGAATCTAAATTATAAAATTTAAAATTAAATGCATATCCTCAAAACAATAGCCAAGTGTGTTTCTTTTCTTACATATACAGTAATACTTATATTTCATTAATTTTTAGTAAAAGCTCTAATTAGTAATCAACTTGTAAAATTCACAAAAAAACCAATAGTATTAAAATCCCACTTAATTGTTGAATAAGTGTAAGATAATAATAGTCAGCAAGTTGTTATGCTTTAGAAGACTGACTTTAACCTATTTAAGCTATGAACTCAGAAAAGCATCTCAACCAATATGTTTGTTGCCATTAGCATCATTTACCGAGCTGTGTACCTTTAATTTCTGCCATTCTATAATCCTTCCAAGGAGTGTTTTTATCAGTTAGTTAGGGATAGCTGGTTTAATGCTGATTCCCATGCAAAGTTAGCCCGGTTGTATGCTTTTTATAATATGCAAGTACTTCTGGTGTTAATAAGGTTAAAAAATAGAAGAAACCTAAATTATACAATCTACAGTTATCAGTTCTATTGAGCTCACTGGAATCTTCTCCTACTTTATAGACTTCCTTCTTTTTCATTTTTTTCCTAATTGCTTAGACTTGTTGTATATGACTTTTTGTTCTTTTTCTTATTCTACAATCTGGATATTTATTTAGGGCTTTCATGACACCTTGTAGTCTGGGTTTTCTTCCCAATTCTCTACCTATTCATTCTTCTTCATCTTGACTTTACATATGGAATTCATTAGGGCTCTCATCTAGGTTTCCTTATAACTCTCAGTTGTTTTGTTTATGCTTAAATGAGAACATAGAGGCCATAACTCAGAAACTGTCTATTCTTCACCTATAAATTGTCCCTGCCACAAAGCAGATTCACTGTGCATTGGTACCACTTCGGCTCACTGCATCTTGGGCTGCAGTTTCTACTACTTAAGATTGAGTCCAGTGATTTAGAACATACACACAAAAAGTTGCATGAAGCAGGCTTATTGCTTATAGATAGGCATCAAGTGACACAGAAGCCCGGCGTTCAGGAGGAGCCAGCCTCCCAAGACTCAGACCGTTTGCCCAGGGTGTTGAAGACTCATTTGCACATGCCCTATTTGTACCACAGCTGAGGGACCCTTGAAAGAAGCCTGCCCCGTGTTTTATAACCCAGGCATCCCATGATACACTGGGCTAAAGCACTTAAGGAAATGTTCTAAGAGGCACAGTAAGAGAGTCTGAGACTTATCTCAGGATGTTGCATTCCCAGCTCATTCTACAGCTATTCTTGAGATGCACAAGTTATAGAGGAGGAAAACCTGGGTTGCTCCAAGGCCACTTGGAGAGTTGTCCTGCATTTCCTCTAGCATTTTCCTTTTTTTTCTCCTATTACAATAAAGAAAGTACATGTCATTCTAAGAAAGGCCATTTTCTCTGCTTAAGTTAATGATACCATTCCATTTTTATCTTTTGGAGGACTTTAGATTATCCTCCCTCTTTTGATTTAGCAGTCTTTCCCTTTCTTCTGCATTAGTCATCCTAGATTACATGTATTACAGTCTTCCAATTAAAAACATCAATGACCATCCTCAGATATTCTTCTGGGTATATTACTTTGCTCATTTCCTTGCTCCCTCTCCTAATTAAACATCTCTTTTTATCACACTGTCTCCACATCCTCAGCCTCCGTCATTATTCATCTCTCTACTGTCCAGTTTTCACCATTATCACTTCATTCAGTCTGCTCTTGTCAACATCATGAGTGACATTTATGTTACCAGTCCAATATATTTCTCTGTCCTCACCTTAAACCACTTCATAGCAGTATTAATGATGGTGGGTCACTTTCTCTTTCTATCTTCCTTTTTTCGTGTTATTCTACTCTCCTGGTTGCCTTCTGTCTCATTGATTGCTCTGTTTCAGGTTTTTGTTTTTTTTTTTATCTTATTCTTAGGTGGATCATCTTATTCTGTTCCACCTAAGTCCTAACTTTTATCTATTTCTCTTCTTTATCTTCTCTTCTCTAGGTGATTGGAATCATTTCCATGGATTTTAAACAAATATTTTCTGTGGACACCTAGGTATCTTCAATTCAGAACTTGGACTTCAGCCTCATACTTCCATCAGATGCTTGTTATCACCACTTCCATGTTCCACAGACATCTCATAATTAACATATTTAAAATGGAACCCTCATTTTTTTTCCTTGCATAAACCTTTTACTACATTATTTTCTTACTGCTTAGAAACCCAGGATATTTTCTGATTTATCTCTCTTAGCTCAACAACTTTATCTCTTCATATAAACCTTAGCATGAACTATTAATTGTATCTTCAAAATATCTCTTCATTTATTGCACTTCTTTTGTATCTTCTATCACCCCTTTATCCAGCTCACAATTATCTGTTCTCTGCATTCCAAAACAACTCTGCAACTGGTCTCCTATTTCCATTATTTTACTGTCTCCCTTTATTTTACTAAAGACCACAACATTATATTCATACAATTTAAATCCAATTAAAATGTTAATGCTTAAAACTCTTAAATTTTTATTGCATTCAGAATAATTCTAACCACTCATGGTAGCCTACAAAATCACACCTTATCAGACATGAACCTCAGTTCTATTCTTTTCCCTTGACAATCCCATAGCCTTAGGTATTCTGGTCTTTCGTCATTTTATTAAATATGCCATGTATTTTTATTTTATGTTGTGGACTTTTTGTATGTGTTTCTCCACTCTTTTGGAATCCTCTTAACTGAGTTCTTAGCATGGTTGGCTCCTGTTTTTATAAGTACTCCCAAACACAGGAACTAGCATTACCATTTTTTCAGTCCTGCAGTTCAGAAATCTGGGGCTTACGTTTGAAACCCTCTTCTCTTACATTTCCCAGAACAAATAAAGCACTGAATACTTTAGATTTTTGCATTCTATTTCTTCACTATATTATTTTCTCTTTCTACTTCTACTATCTAGTAACCCTTTTCTTCAATGACCAAAATCTATTTTACTTCCAGCAATATGGTGAAAAGACTATCGACTCTTAATTTAAAGCCAGACTTTATTGTTTATAACAAATGCATTGCAGAATGTAAACAGAGAATGTAATCACAAGCCAGGGGCTGGGAGCACTTCATATTAGTTTCTTAACATGTCAGAACCACATTCTTTCATTTTTATAAGAGAGTAACCAGAGAGCCACTTTAAGAATTTTTAGTGGTTAGCAGAGGAGTAGAGGAGAGTGCCCTTGATACACAGGTAGTGGTGAACATGTATCTTTACCCCCAGCAGGAGAGAAAAGATAAACATTAGAGACATAAGCTAGCAAGCTTCAAAAAGGATATTTGAAAGGGGTTTTGTAATGGGATATCAGTTTTTGTACAAGGGAATTTATTTGTACAAGAGGTTACGGAGCTTTTCTCGGAGAATAAAACAAGCCTGTCTATTACTTGAAATTTTAACTTTTAGAATAGCTTACGTGCACTTATGCTGATTATTGAGGGGTTGACTGCAGCATCAGCGTCCACTTCAGTCCTTTCTCCAACCATTCCATTATCTACCATGCGATCAGAGTGATCTTTTCAAATCAGATAACCACCACCACTTACCTTAGGATAAAAAGCCAAAATTCTTATCAGGGCTTGTAACCCTGTGCTTGAAGTCTTACCTCACTCAATTCTCCTCTTTAATTTCTGATCTCTAACCATGCTAATCTTTTAGTTACTGCAACTCAACAAGATCTTTTTAGTTCTTTAATTTCAATTCAAGAGACATTCTGCTCTTTCTGCTTGGAATGCTCTTTTCTTACCTCTTCTCCTAATTAACTCCTGTTCATCATTCAAATCTTAATTCAAATGCTGATCCTGCATGAATATTTATTCAGTATTAGGTCAAGTCCCCTGATGACTGTTAGCAATCTCTGTACTTCTTATCACTCAGCATAGTACTGTGGGAAATATCTGCATTGTTCTTTATTGAATCCTTAGTCTCAGGACATTATCCAGAATGTCTTACGAAGAGATCAATAATTATTTGTAAAATGAATTGAGATAATAATAAAAGAGAAAAATAAGAGAAAAAATGTATCTATTTTTGAGAAGGAGAACATTTTTAATGAAGATGTGGCCCTGGAATACAGATGTTTCTCTCATTTTTTTCCTATTTCTTCCCAAATTTAATTAATTTCTGGTTAACCCTGATTTCTCAGATCATAAAAATCATGGGGAAATCAACTACTTTGGCAATAACCCATCATGTTTTCAGGATTTGTAAGCCATAACAACAGTAAATTCTTTGGTGAGCTATACTCTCAGTAAGTAAATGAAGAATAATTCAAATATTATTGGGAAAATGATGCCACATTCATCTGAATATAATAAATGTGAAATTCATTTTACTATGTTCTTAGAACTTTGTAATACTAATTTATAATAGCAGTTTCATCCTTTAGATATTTCATTTTATCTACGGATCTAATTCTTCCTGTGAAATTACTGAGCTATTTCTCTATTCTTAGAAGAGAAAATAACTCTTTGTGATAAAAATCATTACTATGTATAATTAGACTTCCGTTTACAAGTCAAACTGAACCAACGAACTTACAATCATAGAATGTGACTAGTCACAGGGAATGGTTGGGGCATTAGCTCAGTACCTGTCCAAAGTGAGCTCATTATTATGATTATTAGTATCACCATTATCAATCAGCTTCCACATAAAGTGTACCTAAATGCTAGATCTATATGATAGCTTCCAAAATGACACTGATTTTTAATAATCCAAATCTTTAAAGAGATCACTTTCCATTTTAGAAAAATGAGATTTTTTTTTTTTTGGAAAAGATAGAAAAACCTCTAAGCATTTTAACCAAGGGTTTTAGAACACTTTATTTTTATGAATATATCAAAGCAAATTCCTTCTTTATTTTGAAAGTGACTGGAAACAATTTCACGGTCTTACTAAGGGCTAGTTTAAGTGAGTCTCAATTTTTCTTCTGTTTTGTTTGCTCTTACAACTTTCCTCACACACACACACACACAAAGGGAGATATAAAAAAATCTAGATATAACAGATGCAACTTACAATTTTTTGGTAAGAAATCATAAAGTTTTAGAAAAAATCATTTAGGAGTGTCAATAAAAACGATATTTAAGAAAACAGTAGGAAAAGTGATATATTAAAAGACTTTTAAACACCTTTCACAAGAAATTGAACAGATGTGCAAATACACATTATACGTTATCTATTTGCTCATTTTATCCTGTCCTTAAACATAAACTTTGAAGATAAAAGAAAGAAGTGTGGCTCAGGGTCACTCATGTAATCTGTTTTTAGGCAGAAACAGGTGTGTTGAAAGGTTTTTAGGTAAAACAACCACCACTTAGACTTCAATAAAGTAGTATTTATTATTTTCCTATAATTGCAAATTTACCAAATGTAACTCACTATTTTTTCTTTAATATTTTCAAAGATATTTTTGAGTAATTATTATATTTTCACAATCAATTCAGTAGACATTTTTGAAAAACTTATCTGAACCTAGTTTTCTCATCTGTGAAATGGAAACAATATATACTCTCTCAGTTTGTTGTGTCAAATGAGAAACCATATATGATATACTAACCACTGGTTCTGGCTAAATGCATACCTCCTCATCTTTTCAGTAAAGACATGACTGTTGGCCAGGCACGGTGGCTCACGCCTGTCATACCAGCATTTTGGGAGGCTGAGGCGGGCGAATCACTTGATGTCAGGAGTTCAAGACCAGCCGGACCAACATGGCAATACCCCATCTCTGCTAAAAATACTAAAATTAGCCGGGAGTGGTGGTGCATGCTGGTAGTCCCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAATGGCGCTGGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGCAACAGAGTAAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAAGTAACTGTTATTCTCAGTACTTTGGGCCAGCACAGTACTGATACTCTCCTAAAATCTAACTCAAAGAGAAAAATCACAAAGCATTGGAATTGGAGCAGAAAGTAATGTATTCTTGTTTGACATCTTTCCACATTCAGTCTGTGTACTGTTAGCTGAAAGCTAGTTGACACAAAATGCTGTCTTAACTTTAGTGTTGTTTCTAATTTAGTTCTAGGTCATAAAATTTGTAGGAAAGTCTAATTCCAAAACTTTATCAACAGCTTTGTTACGCTCAGGTATTATGATCAGATATCTTATGTGTGCTCTATGACCTCAAGCAAAGATTAAATAAATCTGTACATTACAGTGAAGACCCACATCAACCAATGCAACATACATTTATTTTTCGCAGCACTCTTTTAGGTGCTTTGAAACATGTAACCCATGTTTAAGTGCAGAGGATAGCTGGCAAGGCAAAATATAACTATATGATGTGTTAATAAGAATACAGAGGAATAGTTAAAGTGATGCATAATAAAGTACGGAAATATGTTGTTTGATTTCAAAGGAAGGGGATAGTACATATGCTGAAATGGCCTGGGAAAGCTTAATGATAAGGAAGGTCTTGAGATGGGTAAGAGAGATTTGTAAGGAAGAGAAAGGAGGGAAATTTATTCCAAAAGAAGAAAAAGTATGACAAAAGCACAAAGGAATAAATGAGATGAATGGCAGAAAATAGATCAGTTAATCAGTGAGGCTAGAGAAGCACGTTTATGGAACACTAGTGAAAAATATGATGAAAAGGTAGAATGTGACCAATAACAGAAGGATCCATTTTCTATCAAGACTTTCTTATTAGATTTGATATGTTCATACCAGCAATGTCATCTCTGAATATAAAAGATATCTGTACTTACGCAACATAATTATATGTTATCACTGGGAAATTCTAGGAAGTAATTATCAGTCCCTTTATTAATATTACTATAGAATTAACTTATTCAGTTATAGGGTACACTACGTTTATAGTTTACTTCCTTCCTCCCCCAGCCTCCAGCTTTGTAATTTAAATGAAACTAAATTCCATCATAATTCACTCACTAACACATAGGACTGCCAACCTCTGAATGGCTTTAGATTTGCGTGAACCTGTATTTGTCAATGCTTGCTCCAGGATTCTATTGGCATATGTCGAAATAATTGATTTTTATGACAACCTGCTTCCTGCTTACTGTTTTTTACCATAGGGAGGGAAAAAATAGAATTATCCCTTGATTTAGCTGTCAGTCAAATGACAACTCAAGCATGCTATAAAATTAAAGAAAGCCCCACATTCTACCAGGAACTGATGATTTTAGTGATACTGCTCTCTTTGTAGAAGAAATAAAGTATTTTCATATCTTATGATGAATATCACTATAATACATTAAAATATAGAATTGCATCCAGCAAAATATCCTGAAGTGGACAAAATATGCCCCTCCAAAATATGCCATTTTTGCACAATAATTTTTTTGAGCAGAAAGCAATTAGCTCACTGACTTTCACCTTTCTAAAAGCAAGACATAAATTTCAATTTGTAAAGACGTCTCCCTTTAGTGTACTTGTAAGAAAACTACTCCATAGACAACTCTTAATAGCTGATGACTTATCTGCATAAGAAACTTTATTAAACAATCCTGATTTAGAATACATTTCTTCCCCCACTTTCCCGTAACTTACCTCCTGCACCGAGCAGCCCTAAACTTCTTTTCTTTGGCTAGTCTAAGATATACACCCCAAATCCTAATTGCCTCTTTGCATCACATTTCTTTGTGAATTTCCATGTGTATGTACATAATTAATTGTTATTTTTCTTGTTAACTTGTCTGTGATCAGTTTAATTTGTAGGGTCCCAGACACTGAACCTAGGATGGAAGAGAAAAAGTGTTTCTGCTTTCCTATGGCTTAGGCAACCATGAATGGACAGGCAGGGCATCCCACTTGCTCCAGAGGCTGCAGCTCAATTGAGATCTGACAAAGCTGATGTGAAAACTTTACTGAACCAGATCCTGGAATTTTGCCTACAAAAATACAAATACAGAACTCTGTTTTTTCTTTTCCAAATTCAGATTTGCACGAGAATAAAATTATAAGAATTAGTTCTTTGGAATGTGATTCTGGTGAATTTTCTCCTGAGTATCATTGGTTATTGACCCTTTCACTCCCAGGGAGAGCCATTGCTTTCCTGTGTGTCTCATTTTGTGTCTTGAGCGCTTGGATTCACTTTCTTCCTGGTGGCAGGGTCCACATTGTTGGGCTTGCTGTACAGGCAGTCAGTCATCAGATTGTATGCCCTGAGAATTTGTAGATGGTCAGATAGAGATGCAGGTTGCACTGTCTTGCTACTGATGTTCTACCAACCCTCTCAGAGGGTTTGTCTAAATTTTTATTTCTTTTGGCTATTGCTGGGAGGAACTCCATATCATAAGGACTTCATTTTTGCACTCTCTTTGTGGATACCTCTTACGTTCTTGGCTATCTACATTATTAAATATGTTTTTTCCCTCTCTTATTAATCTTTTATTTATTTAAAAGTGGTGGGTTCCCATGGCCTTGGGCATCTCTGCCTCTGTGGCTTCACAGGGTATAGCCTCATCCTAGCTGCTTTCCCCGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCAGGGACAAGCTGTCGGGGAATCTACCATTCTGGGATCTGGAGGAAGGTGGCCCTCTTCTCACAGCTCCACTAGGTGGTGCCCCAGCAGGGATCCTGTGTGTGTGCTCTGACCCCATATTTCCCTTCTTTACTGACCTATGAGAGTTTCTCCATGAAGGCCCCGCCACTGCAGCAAACTTCTGCCTGGACATCTGGGTGTTTCCATATGTCCTGTGAAATCTAGGGGGAGGTTCCCAAACCTCAATTCTTGACTTTTGTGCACCTCCAGCTCAATAATACATGGAAAATGCCAAGGACTGGGGCTACCACCCTCTGAGGCAATAGCCTGAGCTGTTCCATGGCCCCTTTTAGCCATGGCTGAAGGGGCTGGGATGAGGAGCACCAAGTTACTAGGCTGCACACAGCTCAGGGGTCCTATGCCCAGCCGAAGAAATCACTTTTTCCTCCCAGGCCTCTGGGCCTGTGATAGGAGAGTCGGCTGTGAAGACCCCTGACATGCCCTGGAGACATTTTCCCCATTGCCTTTGAGTTTAACATTTGGCTCCTCGTTACTTATTCAGAGTTCTGCAGCTGGCTTGAATTTCTTCTCAGAAAAAGAGATTTGCCTTTTCAATCATATCAGGCTGCACATTTTCCAAACTCTTATGCTCTGTTTCCCATTTTAAAACTGAATGCTTTAACAATATTCAAGTTACCTCTTGAATGCTTTGCTGCTTAGAAACTTCTTCTGCCAGATACACTAAATCATCTCCCTCAAGTTCAACAGTTCACAAATCTCTAGGGTAGGGGCAAAATGCCACTAGTCTCTTTGCTAAAACATAAGAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTTTATCTGAGACCACCTCAGCCTGGATTTTATATCATTATTGACATTTTACTCAAAGCCATTAACAAGTCTCTAGGGAGTTCCAAACCTTCCCACACTTTCCTGTATTCTTCTGAGACCTCCAAACTGTTCCAGTCTCTGTCTGTTACAGAGTCCCAAAGTCACTTACACATTTTTGTGTATCGTTTTAGCAGCACTTCACTCCTGGTACCAATTTACCGTATTAGTCCATTTTCTTGCCGCTGATAAAGACATACCCAAGACTGGGAAATTTAGAAGAGAAAGAGATTTATTGGATTTACAGTTCCACGTGCCTGGGGAGGCCTCACAATTATGGCAGAAGGTAAAAGGCATGTCTCACAGGGCAGTAGACAGGAGAACAGAGCTTGTGCAGAGAACATCCCCTTTTTTAAACCATCAGATCTTGTGAGATTATTAACTACCCCGAGAACAGAACAGCATGGGAAAACCTGCCACCATGGTTCAATTATCTCCCATTGGGTCCCTCCCACAACATGTTGAAATTAAAATTGGGATTTGGGTGGGGACACAGCCAAACCACATCATTGGGGATGGAACTTTTTATTGTGAGTATGTCTGCACAAGTTACCTGTGTAGATTTTCTTGTCTGTGTGGCTGTGGGAATGTCTTAGTCAAACACCCCTATGCAAGTTTACTTATCTATGACTATAGTTTGATTTTTTAGGCTGTTCTTTTGTTTGAATGAATTCAACTGAGTACCCACCCTAACTGCCTGCCTGACTGGTTTGTTTATTTCTCCTCTCTCATTTTTACCCACGGGAGTGGAGAGCCTAACTGCTGTTAGCGAGGTGGGGTGATGCTCGCTACTTCCTGCTGGAAAGGGGCATTGTATGGGGAACAGCAGCTAGGGTTCCTTCTGTGAGCTTTCTAAGGGTCCTTGGAAGAAATTTGTGTCCATGCATGGTTTCATTTGCATCAACATTTGTAGTTTGATAGACTTTAGGCAAGAAAAAAAAATGGATTATTAGAGGACATGTATAAAAATGAAACAAGGGGATAGGTAATGAAAGCTCAAAAATCTCAAGGCTTCAGCCATGCCCAGATAAATAGTGGCTATAGTTATGCCTACTAAGATTTGGGTGCATGGGGCTTTGCTTTGGTGAACTTCCTTGGTTTTATTTTCCCAAACAAAGAAACCTCTGGGTTATGGGTACCCTGTATACTCCCATAACCTGGTAGGATTTGCAGGATAATAGCCCAAAACTAGAATATTGATTCAGATTTTTACACTACTTATTCCTTTTTTATTTTGAGTTGCAGCCAGAGATTGCTGGTTTGTTTACAGGAATAAGCAGAGTTATTCTAAAATGTACGTGATATGGTTTGGCTTTGTCCCCACCCAAGTCTCTTCTCGAATTGTAGCTCCCATAATTCCCATGTGTTGTGGGAGGGATCTGTGCGAGATAATTGAATCATGATGGGTGTTTTTCCCCATACTGTTCTCATGGTAGTGAATAAGTCTCAGGAGATCTGATGGTATTATAGGAGGAAATCCCTTTCATTTGGTTTTCATCCTCTTTCTTGTCTACTTCCAAGTTTTTGCCTTCCATCATGATTGTGAGGCCTCCCTAACCATGTGAAATTGTGAGTCCATTAAACATCCTTTTTAAAATAAATTACCCAGTGTCAGATGTGTCTTTGCTAGAAGCATGAGAACAGACTAATAGAGTAGGCAAAACTTAAAAACAACTAATGAGATTAGAATTTAATGACAAGTGTATGATAAGTTTTGAATCAAATTTTGCTCTCTCCAGTCCTCATTTTTGTTCAAAACAAATCATGATAGTCATTTTGTTAAAAACAAATTACGACTGAGTTGTTTGCAATGTAAACTTAGGCTCATACTTGGCTTGATTATTTGCATAATGTGCAGCAAAAATAATTATTTTTGCAGTCTTTTAAAATAAGCTTTGATGGAACTCTGTTCCACAAGAGATCTCAGATAGGACTTTTTTAAAGCCAAGCCCGGCCATGAGTTTGTACCCTCAAATACCTATGAGTTGAGTGAATTCCTCTCTTCTTAATGTCACAAGAATATGTGGTTCCTGGGACTGTTATATAGTGACATTCTTTACTCATCACAGATTAGAAACCCCGTACACAGATTATGTAGACAAGGTAGGAGGCCACATTTCCCAATGGGCTTTTATTGGCTCTGTAAGTGAAGCTTGATTCCTCAAAGAGAAGCATATCCATCCAATCAAAGCCTTGGTAAAACAACCAGTTTCTCCAATTGTGTCATGTTGCAAAAGAAAATGAATTCTTACTGCACTGGTGCAAACAACGATATTGCCATAAGTTTAGAATATTCCCAAATAGTTTCCAAATTCTGGAGTAACTTGGCAGAGAGAAACAAATACGCTCCAAATTTTGTTCACTGGTGTATACCTTACTTAATTCTTAAAAGCTGTAGATAGCTTAAAAGAAAGGTTTCCTTAACTCTGAAGAACAAAACAAAGAACAGCAATGTTTTAAGCAAAAAGTAAAAAAAGATTATTTCAGACTTCTATTAGTTTAGTTCATGCAGTTAACTCCTGTCTGATATTCATAAACAGTTAAGATCTTCATGACTCTTGTATGATTTCTTTTATTCTCATGTCATGATTTCCAAAGTTATCAGAAACCTGCATTTGAGAGCACATTGTAAAGTCCTACAGCTGATTGTAAAACATCTTTTGAAGAGGATTAAAACAAGACAACATTTATCTGTAGATGACATAGTGTTCAGGTTAGTTACAGTGAAAAACATGACTGGCAAAGATATTTGGTTATTTCTGTGGTTTGCAATAACTTAATACAATAATCCTAATTATGATCCATAGCATATTCTCAAGCATTAGAATTTTTAAAATCCCATACAATTTTGGAACATATATTAATATTATCACTAAAATATAACCTGAATAAGGTTAAACATAATTTTGTCAATCCCACTTACATGAACCTGTCAAAAAATTCTGTTTACTTCTCTTCTGGATGCTTCAGGGCCCTCTGTAGCATACAAAAGGTAGGGTTCAGGAGAGACAATTTTGAATGTGAAGTTTGATTTTGGGAAGCCTGTCAAATGTTACAGGTTTAAAACACTTGATAGTGTGAAATACAATTCCAGGTAACACATAAGTTATTTATTTTGGCAAAAGGATGACTCAGAAATTTTAAAACTAGGCAACATCCTTTACTCCTTAAGAGGGAGGACTTCGCTTTCCAAACAGTTTGTCTCCTGTCTACTCTTTTCTCTCTTTGGCAGTCTCCCAACAAGGCAAACAAAATATTTCATTATTCTTCTCTATTACATGAAAAATCTGTACAAGGGAAAGAAAGCCAAATTTTACCCTTACATTGGTTTCAAAATAATCCTTTTTCATTGGCAAGGTTTATATTTTATGCCTTTTTATAATCTTTTATGACAAACACATTTTACTGTTCTTACACACCTTGCAGGTAAATTTATTTTTAGTTGTCTTATTTACATGTTTTAATGGTAAATCTTACCAATTTTAACGTTAATATAAAACCTGGTAAGTTGTTTTAATTATGTACTAGATGCAGATAAAGTCTGATTTTTCCATCATATTTAGGGGCATGGTTAATTTCATATGTCCCCAGGCCTTACCAAGTTGTAAGGTAGGTAGCATACAACCTTGAAACATTTAGCAAACCTGGTATCTAACTTACATGATTTAAACTTTCTATTTACATTTTGATGACATTTGCATTGTACCAATTTCATCTTTAAAACAATTACTATTTCTTAGAGGTTAAAGTCCCATAAACTAAAAGGCATTAGAGTTTTAACTTTCCTCTAAAATATTTGATTTAAGTGCTTATTTTTATTTAAGGCAATCAATTAGAGCTCATTAGAGACATCACACACAACACATATATCACTACACAGGCAAACAGAAGAAGATCCAGTAGTTCTAAGATTTTTTTCTTGTCCCATTTCCTAATTGAATTATTAGCTTTCCAGTGGAGCCCTTTAAGAGCAAGGATAGAAAACCATGAAGTTTCTAGGGCCTAATCAACTTGTATAGCTGTAAGACAAAAGCAGATTTTGAGTGGAATCTATCTATGAGCCTCTAAATTCTGGTATTCCATGAGGAAAACAGAGGTTTCTCCCAAAATGGAACCCATCATGCCTTTTCTGTTTTTCCCAAGAAGTATCAGGCCAGCAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAAAACAAAAGTTATCTTGGGTTCATTAAGAGTGGAAAGACAGAGTGGAGAAAACTTATTCAGTCAACACAAAAGTTCTTTTCAAGAAAAACACAATCCAAGAAGAGAAAAACATAAAGGCCTTTTAAATATACCTATAACATGAATATCCACTTTTAATCAAGCTGAGCATTCTTTAAGAAAATCATTTGAAATATGCTGTTACCTGACTTTAGCTAAATCAAGCAGGTAATATTTCTGGCTTTTGACTTTACCAAAAGTAATATCAAAGGTGAAACAACAACTCTCAATTAGGTTATAAGTTAACCACGAGTATACAAGATATCTTATAAGTGGTGGTAAGCAGCTTTTACCAGATCTAGAACCTTTAAAGTCAATTCAGAGAAAAGAAGATTTCAGAAAGGAAGTTAGAGTTGTTCATGGAGGAGGAAGAGAAGATTAAAAGTCACACAGCTATTAACTTGTAAGTATTCATTACCCAAACCAGGAGCGAACCCGGGCCACCATTATAAAAAGGCAATGGCTAAAAAGAAGTACTGCCACATTGTTACAGGTTATGGTCAAGGACATAAAACAAGATGGAGACTTGCAGCAAAGTTTGTTACTAACCAGTTTACAGGGGTGACTTGAACAGTGAGCTTACGGAGTCCCAGGCCTGGATTCCGTTCCAAGGTACCCTCTCTCTGATTGTTTCTTGTATTTTCTCTCCTTTTTCTGAGACTCCTCCTAGTACCTGTTATGAAAGACTGGGGTGGCTACTCTTAGAAGGTTTTTTAAGGTGCCATCTGGTTCTATAGCCTGTTTCTGTAGCTTCCTTCAAATATCAGGAGCTGCTTGAGTAAACCTGTCTTTCAAGATGAGCTGTCCCTCAATTGAATTACGAGATAGGGAAGCATGTTTTGCCAAAGTCTCTCTCAGCCTTTATAAAAAGGCTGAGGGATTTTCATCTGGGTTTTGATCTATCATGGATAGCTTAGAGTAGTTAACAGGTTTGGCTCTGGTCCCCTGTAAGACTTCTACCGTATACATCTGAAAGTGTTTCTATTTTTCAATCATCTATGGGCTTAGTAGGGTTCCAATTAGAGTTTTCAAGGGATACTGCCTCTTTTCCTACTGGGAATGGGGATTCTGCCTGTTTCTCACCCTCTTTCCCTTTTTGACTGGCTATAGGAAACATGCTGCTCATCTCTGATTTTTTCTGCTACCTGTAGGGCTGCCTGTCTCTCAACAGCAGTTAGGGTTTCAGAGTAACATAACATCCTTCTAGGAGAGTTTAAATACTTGGGTTATATCCTGGAAGGCCTCTATACATGAGAGAAGTTGGCACTTGCCCAGAGCGAACTTCAGGCTCTGAAGTCTAAAGAATAACTCAAGGGGAATGCAGGCTTGAAGATGGGGTGTTACCCATGCATAAAAAGAGGGGAGTAGAAGGTGTCCCTTAGTCTCCTTTCAACTTTTGAAGTGACCCAGGTTGAAGAGAAAGATTACAGGGGTGTCCCTCTTCTCTTTCCTCCCATCTCCTTTGGGTCCTGGCAACCATCATAGGTGCAGCCCATGGATGCAAGCATGAATTGCACCCATGTATCTGGAGGTGCTAGTTGGCAGGGGTAGTCATGCTTACCAGCACAATGCCTCATCTCACTGCCCTTCTGGGTTCCTAGGCCTCCCAGGAGATTGTACAGTAGATAAAGTTGGGTGAGACACTTTAACAGAGGGAGTGTTTTAACCCTATTCCTGCTTCCTCTAGCTATGGCCCTGGAAAAGCAGTGCATTCCCAGAAAATTTTACCCATTGCCTTTTAAACACAAAATCCCCTTTCTGATTAAATGCCAATGTTGTTGGAAGCAGAACAGGTGCCTCAAAAGAACATATGGATTTAATGGCTGTCCTCCTTCTGATGGGAACAGCACTGAGGCTAGAATTTGTCTCTCAAGGGTGGCTTCCTCCCAACTGTTGAATGCGGAGTTTTTTTCCCTACAAATGGGGCATAGAGTCTGCTTGCTGACAGAGGAACACAAAAGTGGAAGAAATCTGGGTATTAGAGGTTTTTGGCAAAGGGCCAACAAGACTCTATGCAGAAAAAAATCCTATCTCATGAGGTGGTGCTGTAGGTTTTGAAAATTTAGGTAAAATCTGTGACTCTAAATTTCTTCCAGGCAGAAGCTAGAAAGAGAGGTTTGAGGTTTAACAGACTGTCACTATATATGCCTCCCAGCTGTAGAAAATTAACTTGTCTCATTAATAAACTGTTCAAATTCATTTAGCAGTGGTGAGCTTTTACATGAAGGAAAAGCAACTAAAATGGAGAGGGATGAGGGTATTCACTCGGGATGAAATATCTTTTCATAGAGTACCATGAATGACTGTTATTGTGGGACAAAAAGCACTTACTGGGTGAAGGTTTAGACTGAAATCTTGAAATCCCCTGGTATTTTGAGTTTCTGCTTAGCCTTTCCAAAGGAATAAAATCAGATATGTATCTATCTCAGTGAGCAGAGGAGTGACTTTGAGTAGAATGGGAGGAAGGTTTGTCCTAGGCAGTTTCCCGCTTGAATTTTCCCTAGTGATTTCAGGGGCCCAGTATATTGTCCTTTCACACATCTGACAAGTAATTGATAACCAGAATATCTAAGCAGCTCAAACAATTCTAGAGGAAACATATCTAATAGTTGGATCAAAAAGTGGGCAAAAGATTTAAATAGACATTTCTCAAAAGCAGACAGACATATGGCAAACAAGCAAATGAAAATGTGCTCAACATCATCGATCAGAGAAATACAAATAATAACTACAATGAGATATTATCTCACCCCAGTTAAAATGGCTTTTATATAAAGACAGGCAATAAGGATTGCTGGTGAGGATGTGGAGTAAAGTGAACCATCATACACTTTTTATGGTTATGTAAATTAGTACAGCTGCTATGGAAAACAGTTTGGAGGTTCATCAAAAAACTAAAAATAGAGCTATGATGTGATCCAGCAATCTCACAGCTAGGTATATACCCAAAAGTAAGAAAATCAGTATATTGAAATGATATCTGCACTCCCATGTTTATTCCAGCCCTGTTCACAATAGCTAAGACTTGGAAACAACCTAAATATCCATCAACAGATGAATGGATAAAGAAAATGTGGTACATACATACAATGGAGTACTATTCAGCTATAAAAAAAAATGAGATCCTGTCATTTGCAACAACATAGATGGAACTGTACATTATTATGTGAAGTAAAATAAGCCAGGCCCAGAAAGACAAACATCACATGTTCTCATTTATTTGTGGGAGCTAGAAATACAAACAGTGGAACTCATGGTCATAAAGAGTAGAAAGATGGTTACTAGAGGCTGAGAAGGGTGGATGGGAAGCAAGTGGGAATGTTCAATGGGTATAGAAAACAGAAGAATGAAAAAGACCTAGTATTTGACAGCACAACAGGGTGACTATAGTCAATAACAACTTAATTGTGCATTTTAAAATAAATAAAAGAATATAATTGGATTGTAACATAAAGGATAAATGCTTGTGGTGATGGATAACCCATTTACCCTAATGTTATTATTACACATTGTCTGCCTGTATCAAAATATGACACATGCCCTGTAAGTTTATACACCTGCAATGTACCAACAACAATTAAAAATTTAAAAAGGTGTATCCTTCCCAGTGAACCAAAATATTTTACATTGATAACTTTTAAGTTATCATAGTGTGTTGGAATAATCACAGCTTTGGAAAGAAAAAAATTATAGATATAAACTTTCAAAGATGGCAGGAGATATAGATCTCTCTTTAGTGGATTAAAATATGCCATTTGTTATTAACATCACACTGAGATTTTTTAACACAGGACATCTTCTGGAAATGATATGATTATAGGAGTTATAGGAAAAAGCGTTTTTTCATACTGTGATTACCTATGCTATGAAGAAAGGAGATATTTCCTCTATGATGTCTAATTTAGCATAATTATTGTTTTTAAACTATATTTAGATTTAATTAAGAGATACACAAACAAATTACTTTTAGTAGTAAGAAGATTTTTAAAAATTTTTTGTGTAAGATGACTATGTAGTAAAGAAGGTTACAAACTTACTTTTTAACGTAGAAAAATAATCTCACCTTCTTGCCCCATGGAAAATTGAAATGTTATGTGGAACCCAGTGTAGAAAAACTCTCAGTGAGGTTTTCTGTCTTAAGTTTCAGTGGATTGAGGTGAGATCAACGCCTGTTCCACCTTTTTCCTCCCTGTCCTAGCAGGCTTGAAAACATTTATACAGCCATAAAATGTTGCCTTTAAATTCAAGTATAGAAAATAAAATTTAAAATGTGATATTTTTATATATTTTATTTTAATATCTTACATGGGAAATGTTTTTGAAATGTTAAAAAATTAAAATTTTTAAAAGAGTACTGTGAAATAATCTAATCACATGTGGAAATTTTGTTACTATTTCCCCAAGCATTTTTGGTACATTTAATGAGTTGAATGTAACTCATAAGTAGATAAAAATGTTTAATATTTAATTTTCTGCTGCAATAATGTTACAAAACAACCTTAAATTCTCAGTAACGTTAAACAACATATTTTTTTCTCCCAAATTTCCAGGTTATTTAAGGGCAGTTCTGCTTCATATTGCAGTTTGCCTGGGCTTTACTCCAGGCTGTGTGTTGGAGTTAGGTCTAATATATTGTATCCCTACGTATCCCAGTTAGAAAGCCTAACAGATTTCTTTGTACTTCAGTCAGCTCGATTGTATTTGTCATTCAAAAGCCAAAGCATTTATCCTAACACCAATTGCTTCTTTTTTTTTTTTAGATGGAGTTTCACTCTTGTTGCCCAGGCTGTGGTGCAATGGCACGATCCTGGCTCACTGCAATTTCCGCTTCCCGGGTTCAAGGGATCCTGAGATGGGGTTTCTTCGTGTTAATCAGGCTGGTCTCAAACTCTCGACCTCAGTTGATACGTCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCCAGCCTAACTGACTGCTTCTTTTGTTCTGTAGTCTTTCTCCAAAACTGTTTTTCTCTGTACTCACTTTCACCTTCTCTCACACATATATGTCCCTCATGTCCCTTTATGTCTCCAGGGTCTTCTATTTCCACGTAATCTTAATTGTTCATCATATCCTGGACTCATGAGTAATTAATCTGTTATTCTCCCTGAAAGTGCAGCCTTGTTGAATAGAATGTGTTCTTTAAAGAGCAGCTTTGTTTCTCGAGTGAGGTATTAACTTCCAGATTTAAGTGAAAATGAGTTCCAAGTTTTATGTTTCATTGTGTGTCTAAGACTGACACCGTTTATTACTGTGGCACTTACAGCTTGCTTTCAATGCCTCCAAATTCTCTATCTGAAGGGCTGGGTACCATATCTCATGTCTGAACATATTCCTCAGAATCATGCAGTACCAGCTATGTTCCTTCTTTATATTATGGCTCCTGAGGTGCCTGTTAAGCAGCCAGGTGAAATTGCCTTTTAATCAGTATAGGAACAGTCTCTTTCCTGCTGATGCTAATGCTTTTTGTAAAAAGGTCATGCTGTATTGAAGTTCTTCTTTCACGGCAAAACCACTAATGGAACTCATCTACTTACTGATGGGTGGAAGCTCTTTGTATGCCAAAGTCTTGTTTTGTTTGTGAAGAATCTCTTTCCCTCAACAGTGATGTGCTACGTTAGGTCTCAAATCATTGTTGCTTTTTAATCCAAATTTATGACAAAGATTTTCAGTTTGTATGCATAATTTCCTTCTCTGGCCTTAACCATCAGTCTGTGGACTTGCCAAGCAACAACCACAAGAACAACAAGTCTGAGGTCAAGAGACACTATTTAGATCTCAGAATCATTTGTTGTCCTTTATCCTTTGACAAAGTTTTGCCTTTCTTTCTTTATGAGATTTTTTCCCTAATGGTTTCTCAATCTCTTGAGAAGAAGAAAGTTCTTGACTCTTGCAGTCTTTCTCATTAGTTGAATTATACCATCAGTACAGCTTCTGATCATGTCGAGAAATCCACCATGAAGAAATAAAACATTTCCGATTACATGGATTACGTTTCTTGGATTCTTATAGGCATTAAACTTCATTCTAGGATACAACCTCATGATCTTGTCTTATTCTCAGAACAAGAAATATATTACTATATACATTACAATATATATATATTGCAGTTTCCTTGCTATATATATATATATATGTATGTATTATAGTAAACCCTGTAGGCAAGCAGGAACACTTCAGAAGTCTCAATGAATCCATCATTAGCTGTTAGTAATGACAACACTGTTAGAATTATTTCAATAATCACACATTGTTATGGTCTGAATGTGCACCCCCAAATGTAATATGTTGAAATTTTAACACCTGAGGGCATAGTATTAGGAACTTGGGAGTGGAACTCTTTTTAGTGCTATTATGAATAAGATGCTTGCCTTTTCCAGCAAATGAGGACACAGCCACAAGCTGCCCTCTAGGAACTATGAAGTTAGTCTTCACCAGACACAAAATCTGCTTGATTTTGAATTTAGCCTCCCGAACTGTGGAAAATAAATTTCTGCTTTTATAAGCCACTCAATTTATGGTATTTGGTTATTGTATCCCAAACAGACTAAAACACACATTATTTACCTCCTTTTTGGACTGTCTGGGGTTGTTGCTTTAAACTTGCTTCAGTGCCTAGAACTGCTCCAAGCTCCCTGTCCTCTGGCACACACGTATAAATAATTCTGCTGGAAACCGACATGTTTCACTCAGTCATCCAAATGTATTTATAATGTTGTCCAAATATATAGCACTTGTTACAATGTTTACATTTTAGACATATTTTGAGATATGTGCCTTAACAGAGTGCTGTGATTATTATTAATATTTAGTAACTTATCTTACCAGACCTAAACTCAAAGTTTTTCACAATGGCAATGCCTTATTTGGGACTTATTTGGGACTGAATGTATGAAGATCTTACATTGAGTCCAAATTGATTTCTCTGTTAGTCTCGCAATAACATTAAAGCCACAGAATTATCTGCTGTATATTTCTTGTCTTGTTGTAGCTGATATTCTACATATTAGGACAATTAGGACATTAGTAATATCTATTAACCTTAGAATAAAATGTCATATTGAAATTGAAGAGGAATATTGGAACTTTGCTAAGAAAGAATGCTTTTCACACACAATGATATCTAAAATGGAGCCTCTGTTCCTGGAGGTATATTTTACAAAAATTCAGTGTTACTATAGGAATTCTGTACACTTCTTTCTTAGACATTTGTATTCCATCAGTGTCAGTCCTCTCTGTATTTTAAACTAAATAGGATTTCTTTTTCCATCTTTCTGTTTGACAAGTATTGTTTTGCTGAAAATTTGCTATTCATGTTCTTTTAACTCATTAGAAAGAATATTTAGGGTCTTTAGTGACAAATGACATGGTATAAATGAAAAGAAAACACTGACATTGTAATTGAGAAATACTAATTAATTAGGAGAATATTATTTAAAAACATTGTTTAAATATTTCTTTGTTTTATTATTATTATACTTTAAGTTTTAGGTTACATGTGCACAATGTGCAGGTTAGTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATCTCCTAATGCTAAACCCTCCCCCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAATATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTACTGAGAATGATGATTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTATATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTACCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGAGTACATAGCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGATGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCCTACAATGAACTCAAACAAATTTACAAGAAATAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAAACATTGTTTAAATATTTCTATCACAAATTGACAGCAGTACAATGCACACCACCAGCAATGTATAATTCTAGATATGAGAGGTAAAAAGATAAAACAGGTATTGCATTTTCTCCAGAAAACTTATCATTTAGTGGAAACTGGCCAATAATTTCTTAGGCCTTAGGATAATTTTACCTTTGATTCTCTAGTTAATCCAAAATATATAAAAATATTAACCAAAAGTATATATTTTTAAAATGCCTACATAATCTAATGCAGTATTTTTTGCTCTCTTCTTGAAGTGAATTAAATTCCTTATCACTGACCATAAAATTGAACTCCATTGATGATTCTTATTTAAAATAGTTAAAAGTGAATGTAAAGATCAGTTGTGGTTTTCCTTTTCTTACCCTTGTTTTTACACTTATATTTGCCTGTGTCATTCACACACTTTTAGAATTCAAAACAATAACTAGAAATGTAATCATTTGCTTTTCAAAAGCTTTTCGCATCTTTCCAAAGTTAATATAAAGTCTTACAAAACTTTTAGCTAATTCACAAAAAAATCAAACATATATAGTTGAAGCAATTTTTTTTTTTTGGTAGATTTCTTCAAACCACAGAAATTTCAGTTATGGCATGGTAGGTCTTTTGAAATGTTTCATTTTTTGTATTTGAAGATGCAGAGCAAAAGTATTTCCACTCCAACTCCCCTTTAATAAAAATTGAATGTAACAAAAAAATCAAAATCTATAGGAAAATAACCCCTTCATCTATGTTAAAACTATGAGATTTCCAGCCCAAATAAGTTATAAGAACCAGTATAGAGTCCAGGCTCGGTGGCTCACGTCTGTAATCCCGGCACTTTCGGAGGCTGAGGCCGGAGGATCATGAGTTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCCCATACCTGGGAGGCGGAGTTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGAGATAGAGTGACACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACCAGTATAGAAATACTAATACAGTAAAAGGTGGACTTATATATAAAGAAAATAACCAACAGATTTTGTCTATGGCACAAACTTCTTAGAAATTTTGAGGTCTTTAGCCTTAAAGACCTAATCAAATATTTATTACTTTGAACAGTGAGCTACTGGGATATGCTGGGCTTTGAGCCTATGTACAAATCTAATTTTAGAAGTCAGGACGTGTTGTAAGCAATAGCAAAGAATATGCTAGATGATCAGCTTGGCAATTGTTGAACAAACTTCATTCAGCAGTGTGAGGACGTAATTAAAGCAGTTGACCTTCAATCTATTCACTCTCTTTATTGGCAAATGGCCGAGGAATAAGACTAGAAGGAAGATGAACTGGTTTAGTCTCTTTGTCAGCTGAACTTGTGGTGAAAGAGACTACTGATATTTTCTAGGATGAAGAGATCTTATCTCTGAAATACCCTTTGCAGGTTGCTCCTGACTGAAACAAATTCACAGATTCTTTCTTCTCGCTCAATTTTGCTGTTGATTCTTCATTTTACATTCTTTATTTCATTTATTTTATGCTTTAGCTCTAGAATTTTAGTTTGGGTTCTATTTTTTCAATCTGTCTGTGGAACTTCTCAATTGGTTTGTGTTTTGTTTTTTTTCAAGTTTTGGTTGAATTGCCTATTTATTCTCTTGTAACTAATTACTCTCCTTTAAAACAATTATTTGACATGAAAAACCTTGCAAAAATACAAAAATCTATAAACTTCTTGACAAAGAATTCAAAATAATTATTTTAAAGAATTTCTGAATTTGCAGCAAAAGTTTGCTATAGAGCAACATGAAAGCACAGAAAAGTATGAAACTCATTGATTAAGGTAAATATATAAAAAATACAGAACACTCTAATAGTGTAGTAGTGGTGTGTAAATCAGTTTTATTGCTAGTATGAAGCTTAAAATCCAAAATAATAATAATTATAGCTACAATAATTTGTTAATAGATATAGAATATTAAAAATATATAATGTGACACCAAATATATAAAATATAGTGGGCTGAGTAAAAGTATAGAGTTTTGAATATGATCAAACCTCAGTTTAAAATAGTTTGCTCCAACTACAAGATAGTATGTATAAGCTTCATGCTATTCGGAAAGCAAAAACCTATAGTAGATACCCAAAAGACAAAGAGAAATCAAAGCATGTCACTACAGAAAATCATAAAATCTCAAAGAACGACAGCAAGGGAGAAATAAAGGAACAAAAATATGTTAAAAGGCTGAAAAGCAATGAACAAAATGTCAATTGTATGTTCTTATCTATCAATAATTACCTTGAAGATAAATTCATTCTATTCTACATTCAAAAGCCAGAGTGGCTGAATGGATTACAAAAGGAGACCCAACAATATACTGCCTACAAGAGACTCACTTCAGCTTCAAGGACACATATGGTGTGAATTTAGGGGATGAGAAAATTTGATATTCCATGCAAATTAAAACAAAAAAACAACATGGATAACTATCCTTATATCAGGCAAAATATACCTTAAGATAAAACTCTAACAGGTGATAAAGATGGTCACTATATAATGATAAAGGGATGAGTTGATTAAAGGGATGAAACAATTATAAATAAATATGCACTTAACATTAGAGCACTTGAAAATGTAAAGCAAACATTAATATCTGGAGGGAGAGATACAGAGCAATCAATAATACTACAGATATAGGTAACCTTATTGACACTGTTGAAATTATCAATACTCCAATTACAACAATGGATAGATCATTTAGACAGACAATCTGTAAGGAAAAAAAAATTAGACTTGATCTGCACTTTAGACCAAACGGACCTAACAGATGTATGTTCACATTTCATCCACAGCCGGAGAACAGGTGTTCTTTTCAAGCTAACAAGAAACATCCTCTAAAATAGAGCATACTTGAAGTCACAAAATGTCTTAATACATTTAAGAAGATTGAAATTTTATCAAGTATCTCTTTTGACCACAATGGTATACAACTAGAAATCAATTAACAGGAGGAAAACTGGAAAATTCAAAAAGAAGTGAACATAACACAATTCTTAAAAACTGGTGGTTTAAAAAGGAAATAAAAAGGAAAATAAAGAAATCTTGATACAAAAATGAAAACACAATACACCAAAGCTTGTGGGATGCAGTAAGACAGTGCTAAGATGAAAATTTGAAATGACAAACACCTACATTAAAAAAAACACAAATATTTCAAATAAACAATCTATCATTAAACCTCAAGGAACTAGAAAAAAAGAAGAGCAAACTAAGCCCAAAGTTAATAGAAGAAAGAAAATAAGAAAGATCAAAGCAAAATAGAGAAATAGAGAGTAGAAAAGTAATAGAAATTGAAAGACATTCTGTGTTCATCAATGTGAGAAATTAATATTGTCAAAATGCTATTACACAAAGCAATCTACAGATTCAATGTAATCCCTATCAAAAGTCCAATGGCATTTTTCCAGAAACAGAAATAAATCCTAAAATTTGTATGAAATTACAAAAGACTATAATTACCCAAACTGATCTTGAGCAAGACGAACAAAGTAGGAGGTACCACACTTCTCACTTTCAAGTTATATTACTAAACTACAGTAATATATATATATATATATGATACTGGTATGAAAACAGTCACATAGAAGAATGGAGCAGAATAGAAAGCCTACACCAATATCGTCAAAGAATCTTCAATAACATGCCCAAAACACCTAATGGAGACAGGATAGTCTCTTCAATAAATAGCGTTGGAATTATTGGAGGCCCACATGCAAAAGAATGAAATTGGAGTGTTATGCTATGCACAGGAATAAATTGAAAATTGAAAAGGAATTTAAACATAACATCTGAAACCAAAGAATCCCTAGAAGAAAACAGGGGAAATCCTCCATAACATTGACCTTGGCATGATATTTTGGCTATGAATCCCAATGTATAGACAAGATAAACAAAAATAAACACATACAACTACATCAAACTAAAAGATTGTGGCACAGTAAATAAATAAATAAATAAATAAATAAATAAAAAGTCACCCATGGAATGGTAGAATGTACTTGAAAACAATATATCTGATAATGCATTAATATCTAAAACATATAAGAAACTCATAATCAGAAAAAAAGTAACCTGATTAAAACATGAGCAAGAGACCTGAATAGACATTTTTTCAAAGGAAGATTTACACACGGCCAACACATGAATGAAGAGGTGCACAAAATCACTAAACATGAGGGAAATATAAACTGGAATCAAAATGAGATGTCACATTACATCTTTCAAAATAGCTAATATCAAAAAGGCAAAAGATAAATAGTGTTGACAAGAATGTGTCGAAAAGAGAACCCTTATAGAGTTTTGGTGGGAATGTAAATTGGTACAACCATTATGGAATACAGCATGGACACTCCTCAAATAATTAAAGATGTACCGTATGTTACAGAAATTATACTTTTAGGCATAAAAGTATATACCTGTGGGTGTGTTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTGAGGGAGGCAGATTACCTGAGGTCAGGAGTTCACGACCAGAGTCGCCAACATGGCAAAACCGCATCTCTACTAAAAAACACAGAAATTAGCCCAGCGTGGTGGTTGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCAGGGAGAATTGCTTGAACTTGGGAGACAGAGGTTGCCATGAGTCAAGATTGCATCACTGCACTCCAGCATGGGCATCAGAGTGAGACTCCATCTCAAAAAAAGGGTATATACCTTTTATATACTTTTCCTTTTATATACGATAGAAATAAAATCACTATCTTGAAGAGATATCTGCATTCCTGTGTTCATTGCAGCTTTATTCACAAAAACCAAAATATGGAAACAATCTAAGTGTTGACAGATGAGTAGGTATGTAAATTATGATATCTATCATCTATCTGTCTATTTATCTATCTATCTATCTACAACGGAATATTATTCCGTATTTAAAAGAATGAAATTCTGCCATTTCCAACAAAATGAACGAGCCTAGAGGATATTATGCCAAGTGAAATAAGCCAGGCAGAGAATGAAAAATACTACAGGTACAACAATGAAAACTTGCCATTATAAGATGAATAAGTTATGGAGGTCTAATGCACAACAGGGTAAAAATAGTTAGTAATAATGTATGCTTTAAGTTCACTGAGTGTAGATCTTAACTATTACCCTTTCCCAACACATGATAACTATGTGAAGACATGAATATGTTAATTAGCTTGATTGTGAAAGTCCTTTTAAAATATACTTGATGGGCGCAGGGTGAGAGGAGAGTGAGGGTCAAAACACTACCTGCTGGGGACTATGCTCACTAGCTGGGTGATGAAATCATTTGTACACCAAACCCCAGCAACATGCAATTACCCACGTAACAAACCTGCCCATGTACCTCCTGAACCTAAAATAGAAGTTGAGAAAAGAAAAAAAAAGATATCAATTTCCTATAAGGAGCTCCAGGTTTGTTCCAAACAGTAGCGAGACAAACAGATCAAGGATGAAATATATAAAATAGTAGGCAAAACGTAAACAACATGTGTAAGGCAATCGATTCTATATAACTCAGCAACTCCTAGGGTTCTTATCAAATAAAATCACTGATGTGTCATAACTTCTAAACTAAAAACAACACAAATGCCCATTCACAGTAGAATGAATAAATAAATTACTTTTGCTTCCCGCGATGAATACCACACAGCAATTAAACAATGAACTGCTGCTACACAAAACATAGATGATTCTCACAAATTTCAACTGAGTGAAACAAGTCAGACTCAAAAGATTACATACAGCAAGTTTCCATTTATATGAAATTGAGGAGTAGGGAAATCCATCGTGATAGATTTCATGATAATGATGACCATTGGTGAGTAACTGGTTGAGAAAGTGCGAGAGCCAGGGGTGTGGGAGCTGGAAATCGTCCATATCTTGCTTGATTTGGGTGGTGGTGATAGGGATATATACACTTATAAAAATTATAATGCTATATGCTTAAGATTTATGTATTTTACTATTTGTAAGATATATATTAGTTGAAAAAATGCTTCAGTGTAAAGGAAACCAGTAAAAATACGCTACCTACAATTGTAGCTTTTGTTTATCAAAAAAGCATTTGAGTAGTCTATTGATTGGTAATTAGCAAGTTTATGTTAAGCAGCCTTGTCCTGAATACTTTTTAGTATGTACCATTAAGCATTTGCCTTTCTCAACTAGGGCTAATTAAAAAAAACTCAAAACCTCACATTGTACACGTTGAATATATATAATTTTAATTTGTGAATTATACCACCATAAAACTAAAAATCTAATTAAGTTGAGTTTGAATACATTTTAGGGAAAATACGATAAAGAAAATTAGGAGCTTAAGAATATGCATAGATAAAAAATAAACTTGATAGAAATATTATTTATATATTATATATTATGTATATTTATATATATTTATATATAATATATAAATAATAATATATATATAAATAATACTATATGTATTTCAGAAAATCATATAAAAAGCTGTGCTAAAATTTTCCAGAGAGAGAGTAAATAGTTCTCCTGTAGTGGATTAAAATGAGATTAGCATTGGAGTACTAGCGTAATACAACAGATAGAGTCTGAAGTCAGATCTCAAAAATACAATATATTTGCTAAGTAATGCGAGACAAGCTATTTAAAGTTTTTGGACCTAAATATCCAGTCTGTAAGTTTGTTGGAAAAAATAAATACGCTAATAGAGAACTTAACTTACAGGGAGTGCTAAATTATTACCTGTTACTGGAAAACATAATATCAGTGACATTAAAAGCTTGAGTGTTGTAGAACAATATTTTGAAATATCATTTTTTGAAGTTATATACATATTTATATTACTTTAATAATTTGCACAACATAGGAAGGAAAGCTTGCTTTGCACAGGCAACATTTTTGCCAAATAATCTTTAAATCATCATGAATTCTCAATTAGATTAACAATAATAAAATTTTATTGTAGAAGACTATTTTTTCATTAATATAGTTGTACATGCACATAGGGTAAATGTAATATTTTGTTACTTGCCTAAGCTTTATAATGATCAAATCAAAGTAACCAGGGTGTCCATAATCTCAAGTATTATTTCCATATGTTAAGAACATTTCAAGTCCTTTAGCTATTTTGGAATATACAATACATTGCTGTTTATATGTAGTCACCTTACTCTGCTATGAAATATTAGAACATATGTCTTCCAAGTAATTGTATGTTTGGACCTATTAACAAACTTTTCTTTATTCCTCCCACCCAGAGAAACTTTCCAGCCTCTGGTATCTATCTATAATTCTATTCTCTACCTCCATGAGATCAATATTTTTAGTTTTCATGTAAGAATAAGGATATGTGATACTTGTTTTTCTGTGCCTGGCTTATTTCACCCAACACAATGACTTCCAGTTCCATCCATCTTGCTGTAAATGATAAAATCTCATTCTTTTTTATGGACAAAAAGTATTCTACTGTGTATATATATACCATGTTGTTTTTATTCATTCATCCATTGATGGACAGAGGTTGATTTCATATCTTTGCTATTGTGAATATTGCAATAAATATGAGAGTGTGGTTATCTCTTTGATATACTCATTTATTTACCTTTGGACAAATAGCTAGTAATAAATAGCTTGCACCTCTGGTCTCAGCTACTTGGGAGACTAAAGCAAGGGGATCACTTGAGCCCCCGAGGTTGAGGTTGCAGTGAGCCATGATCACTCCACTGCATTCTAGCTTGGTTGACAGAGTGAGAACCTCTCCCTCCTAAAAAAATCCTTAAGAAATGTGTTGATGCCTGGTTCCCTTGGTCAGAATTTTCATTTGATGTGTTGAGAGTGTAGCACAGATGTTGGAATGAACCTCTCAAGCTGATTTTAATGTGCAACCAAGTTTGAGAACCACCAAGGAAGAGTTTTTATGAATTAAGATTCCTATACTCTATCCTAGAACTAATACAACTGAATCTCTGGGAATGGAGTATCAGAATCAGATTTGAAAAGGTTTCCTTAGTAATTCTAAGGACTGAGCAGTTTGGATACTCGTTTGTTAGAGTAAAATGGTTAGGTACCTAGTATCAACATAGGCACCCAACCTGATATTAATAACTAGGAAAATAAAGGGTTGGCGCCTCTGTGTTTCTTTGTTGAAAAATCTGATACTATTCTTAGTTCTATGAAAACAATTGAAAATTTGGTTATTATCACCTTAAAAGTACAAAACCTATAGATATTGAAAATGTAATTATTTTTCTATAGGCATAGTTGAAATGATTTTGTAAATGTTATAAATCAGTTTCTTTATAAGCAGTTCATTTACATAAATTTTGTTAAACTGACATGATTCACTAATTTTCTAAATATAAATGGTTCAGCTCTCAGTTATTTTTAAACTAATGACCTGTGTTATACTTACTATTTTTAATGGGCTTTTATGATGTTTTTAGGTTTCTTTGGATTCCCATGTCCTTCAAGTGCTTTGCAACTTTGAGAAGAAGAAATTGACCACCTGGACTATGGAACTGTGCATAACAGCTTTGAAAGTGTATTTAAAAATTAAATCCATACGCCTTTAAATCAGTAAATTGGAAATATATTACATGTATTGTAATGACTTTCCTCAGATATAATAAATTGTTTTCTTTCCAATGGAATAGTGTTTGCATTTTTTGTTTACCTGGTTTAAGATGTGCAGCAGAACATAACTAGATGATTACATAATTTCTTTTTAAGGCAATTTTATAATATATTTTATTTATGATTATAAAAACTGCCTTTAAAAATTCTTACATGGATATCAATGCAGTTTCACTTTTTTTATTGTAATCTTTTTTATAATTATTTTATACTTGTCTGGCATTGAGTTTTATTGGGCTTTTGGTTTTTTGGAAGTAGGGTATTTATCCCAATTTAGAAAATTTGTATCCTTGCCATAATACAGTCTTCCATTTTTGTACCCCCAAATCTTTCATCTGTCAGAACATCACTCAAAGGTGAAAATATTTCCCACATAAAATTATTCTGTTCCTTTAATGAAATGAGTTTCAGCTGTATATAAGTAGGAAAACTTCCTTTTGTTCTATTTGATTCCTTTTTACGGATACTTTCTTGAGGCTGTGATTACACCTTTACCTTAGAGGCACTGCCCAAAAAGACTCAGCTCTTCTGTAAAAATGCTGTTATGAATCATAGCTTCTTAACTTTTACAACATAGTGAGGTAGGGAAAGTAAGAACACTAGAGATAGGAATTAGAAGCATGGAGAAGTGAACCCTGGAGCTTCCCAATGGTGAGATACCAAATAGTTCAAGAACTAGTAAAGAAGACTACGGAGGAATAGCTAGAAGCTAAATGAAGAAAGTATCTCAAACAGGAAGGAGTGATCTGTTAATGTGTTAGGAAAGTTGAGTTCTTAGGATTAAGCATTGGGTAGAGCAAGATTTGGGACCTTGACTTTGACGAACTTGGTGGATGTCAGGAGTAAGAGGAGGTATTCAAGAGAATGTTGGAGAGGAATTTAATATAGTGAGTATTGAGGACAACACTTAAGGAGTCTTGCTTTCAAGGGGATGTGAGAAATGGGTTGTTAATGGAGGGTAATGTAGTATCAAAAAGCTGTTTATTTTGAGATCGATGATATAGTAGGTTTGTATGCTAATGGGACTGATTCAGTAGACAGAAAAAGCATAATGCAGGAAACAGAGGGATATTGCTGAAGCCATAGACCTGGGACACAAATAGAAGGGTTAGTTTTAAAGATAGGCCCACAAACAGCTCATTAGTAACAGCAGGATGAAGGGCAGATTATGGAGTTCCAGATGTTTGTAGTCCAGTAGATAGGAGGAGCATGTCAAATTTTTGTGATATTTTCTCAGTGAAACAGGAAGCAAGCTCATAAAGAGGGAGGAAGTCACGAAGGAGTAAGGAAGGAAAAGGAGATGTAAAATGAATAGATAGGAGTGTAGGAAAGTAAGCATACTCTTAGGAAATCTGTGGTTTATTTAAGTGGTATCAGTCAATGTGGTTCTGTGTTTTTCTCCAGTTGAGTTCAGCATAGGTGCTATCACTGAAAAAGTACAGAATTCAGTTTAACTAAAGGTGAGATTTCTCTAGGTGAATAAAACAGTCAGTGATGAGATGTTGATACATTTAAGAGAATGATTATAAAAGAGGGATGTGGAAAGTAGTCTGGGTTAAGTAGTGAAGTGAGAAAATAAAGAAGGTTGAGACAGTGGAAAATGGAATGATCAATTGTAGATTGCAGTGTGGTTGAAGATGCAATGGACTTCTTGAGGTGGGAACTAGAAATTTGGGGGATATAAATAAGAGAGGGGTGACTGAAATTGAAAATATGAGAGTATAATAGTATACAATATTACTAAGTATGGTATACTAAGTATAGTAGAATAGTACTAAGTATAGTAGAATAGTACTAAGTATATAGTACTTAGTGAGTATAAGTTTTAGGATGTGAAGAGGGGAGTAGCGTAGAGGCAAGGTGATGGAAGCAGATGAGTTCAAGAAAATGAGAACCTAGGAGATTGAAACCATTATCTAAATGAATTCTGAAATCTCAAGAAGAACTGTGCTGAGTGCTTGTAGTCATTATTTTGTCTTTACTACTCTGTGAGAAGACAGCACTTCCTTTTGTGAGTAATGGAAAGTTCTTTAATATGTCAACTGTAAGATACTTTATTACATTTAATTATCTTTAGTAATGCATAGTAATAACTAATGACCTCAGTAGGATTATTCAGTAGATATGTGAGCTAACCCCCTGTGTCAGACACCTAAGAGGAACAACTGATGTTTTTCAAGACGAATAGAGGGTTCTCATCCCAGGGTTTTAAGCTGCAAAATATCCCACCCTATATTTTCTGAAAACAAACGTTATATAGAGTGTCCACATAAAAGCTAACAGGAAATATTACACACACACACACACACACACACACACACACACACAGCATTGAAAATGCATCAGGAAAGATATACCCTGTACCCAACATGCACAAGGTCTAAGCAATGAAGAAAATCTAGGAAATCAAATAAGACCAGAACATCTATGACTAATATATAAATACTTGAGGCAGTTATATCCATTTAAAAGGTGTCAATTAGACATGAAAGAAAAAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAACGCAGGCGGATCAACGTGAGGTCAGGGGTTTGAGACCAGCTTGGCCAACAAGGTGAGACCCCGTCTCTACTAAAAATACAAAAAAAATTGCTGGTTATGGTTGCACGTGCCTGTGGTCCCATCTACTTAGGAGGCTGAGGTAGGAGAATCATCTGAACCCAGAGGTAGAGATTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCTTGGGTGATGGAGTAAGATTAAAATATATATATATACATTTTTACATAAGAAATTTTATTTTAATTTTTTTGTAAATTAGAAAATAGCAATTAATATGGTATTTATATACCAGAATCTTTGAATATCTAAAATTTAAGAAGATGTGAGCAATTTCATGAAACTTTTCAAAGCTTAGAAAAAGGTAGCTATGTAAAATAACAATGTATGTTGTTTATGGGAACATTAGATGAAGTAAGTCATGAAAACATGCATAGAAATGATCATATAAACTTGCAAGAAATTGAATGTCTTGCTATCAAAGGAAAGGATGGAGGTGTAAGAGACTGAGGTAGAATGTGAGAAGCTCTGTATATATTGTATTTTCCTTAAAAATATATATTTAAACTCGCATTTCTTGTTTTTCAAATGTTCACTCTAATGAAAATTCTTTTATTTTTCCTGTTACAGTTTTTATTTCTGATCTCATATATGCAGTGTACTGTTGTTCAGAAATATCATTGATCCTCCCTGCAAATGAAATACTCTCATCCTGTTGAATTTGAGAATGTACACATGATTTGCTTTGGCTTTGAAATGTGAGCAGAAAGAATGTTTTACTTTGGGGAGTTCCCAATTGCTAAACCATGTGTCAAAATGAAGTTTTTGTGACATTACAAATGGACTAATAAGAGTGCCTTTGTTGATCCTAGTTGAACATGAGAAACTTGGTTATTGTAAGCCACTGAAAAATTTTAGTTTCTTTTATTACTGCAGAATAGCCTATTCTGTCCTGATTGATACAGCCACAACATTTCCTTAAGCTCTTTGATTTTCATATTGCCATTAGGATGTAGAATGCCAAGAGAAGGATAAATCATAGGATCAGAGAATGTTAGCAGTGAACGAGACTATTGGAATACATTTTTTCAATGGTTTCCAGACTTTGGGTTCTAAGTAATCAGTAATATTTCGAAAAAGTAGTAAAAGATATTTCAATATAAAAAATAATGACATTTAACTTTGAAAAAAAAAACCTATCATTGCTAGGCATAATGGGTCTAGCTTGTAATCCCAACAACTTGGGAGGCTGAGGAGGGAGGATCACTTAAAGTCCAGGAGTTTGAGGCTGCAGTGAACCATGATTGCATCTCCACACTCCAGCCTGGGTGACATAGGGCCACCTCAACAACAACCACCACCAAAGCTATCATTAATACATTGTTCCTCTGTCTCTCTTCCCATCCTCCTTACCACTTAGTCTTAAATCTAATCTTATTAAACAATATCTAAGGAAAAGATAAGAAAAATGATGGTTGCATCTATACTGAACATGTGTTGACTTTTTTCTTGTCACTATTTTCTAAACAACACAGTATCACAACTTTTGACATAGCATTTATGTTGCATTAGTTATTATAAGTAATCTGAGATGATGTAAAGGTTATATGCAAATATTATATTTTATATAAAGGACTTGAGTAATTATTACTTTAAGTATCCATGGTGGTTCCTGGAACAAATTCCTCATGGATATGGAGGGAGGAGGAATCACTGTAATTAAACAAATCATCACTTTAAAACTTAAAACCTTTTGCATGTTGAATACAGTCATGCACCACATAAATGATGGTGGTCCCATTAAGTTTATTATGCCATATTTTTATCGGAAGTTTCCTATGTTTAAGTGTATTTAGATACACAAGTACACTGTGTTACAGTTGCCTATAGTATTCAGTAAAATAACATGCTTTACAGGTTTGTAGTCTAGGAGAAATAGGCTAAGCCATCTAGGTTAATGAAGTCCATTCTATGACATTTGCACAGTGGCTTAATTACCTAAGGGCTTTCTCTTCAGAACCTACTCTTGTCATTAAGCAATGCATGACTGTAGTTGGACAAAAAATAATAATGCAGGCATACCTTTGGCACTGTCCTAATTCTTACCAGCATCCATGATTGCTTAAATTTGCACTGGAAAGACTTCAAAAAACAGTGATATATTAGGACAATATATTTCCAGTACATGACAAATGATAACAACATAAGAACTCGAAACACTCAATAAAAAACAAAAAATAAAGCAAAACTAGATGGGAAAAGGAAGAAGCAAATTTCAAGAGAAAACTCAAAAGGCCAAAAAATGTGAAATGATGTTCAGCCTTGCTAGTAATTGGGAAAAACACAAATCATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCACGCTGGAGTGCATTGGCGTGATCTGGGCTCACTGCCAGCTCCACCTACCACCTTCAGGCCGCCATTCCCCTGCCTCAGGCTCCAGAGTAGCTGGGACTACAGGGGCCCACCACCATGCCTGGCTAGTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCCGTCTCCTGACCTCGTGATCTGCCCGCCTCAGCTTCCGAAAGTGCTGGGATTACAGGAGTGAGACACGTGCCCGACCCAAATCATTTTTAATCTATTAGTCAAAAATTAGAGCTATGATAATATTAATTTTTGGTGGGAGTGTGGCAAAAGGTACTATAATATACTGCTACTAGAGAGTAAAAATTGATAAATTTTGTAAGGGCAATTTTGCACAATATGAAAATATAAAAATATGCTTCATGTTTACCATACATTTATCTAGCATACAGAATTACCCATGTGTAAACATGTATACAGATGTTCATTATAACACTTCTTATAAAAACAAAATATTTGGAAATAAATGTTCATATTAATAAGGCGCATACCGTATGATCTTAGTCCAGTTAGAATATTCTGTTTTATTTCAATCCTTTAAAAGACTCAACTTCTGACTCTATATAGACGATTAAAAAAAGAATGTGTTCTCCCTTTGTGCATTTGGTCAGGTAAATTAAAAAATACACCACATGCTAGCCGCACCAAACTGGAATAAGCCTTTGGAAAGAAGTTGTCCTTGAAGCTTGTATCTGACATTGTAGCAGGACGAGCCTCAGACAAAACCTCTCAGACACTGAGTTGTAGAAGGAAGGGCTTTATTCAGCTGGGAGCATCGGCCAGCTACTGTCTCAAAATCTGAGCTCCCGGAGTGCACAATTTCTGTCCTTTTTAAGGGCTCACAACACTAAAGATTTCACATGAAAGGGTCGTGATTGATTTGAGCAAGCAAGGGATACGTGACAAGGACTACATTCACTGCTGGTCAGGGAGAAACAGAACAGGGCAGGGAGTTTCACAGAGTTCTTTTATACAATGTCTGGAATCTGTGAATAATATCAGCTTCTAAATCATAAGTTGATTTTTAGCTACTGGGTTTAGGCCAATCAGGCCCAGGCCTGGTTTCAGGCCTGGCGCTGGGCTGCATGTCTTTGGTTGTACTTCCTGGTTGTTTTTACTGAATAGAAAACAATATAAAACAAGGAGAGGGTCTTTGTCTCCTCTCAATATCAGCACTGGATTGTAGAATGTGTTGCTGATTTTGACCTTGTATTCAAGTTAACTGTTGCCCTTGGTATCTGTACATATCTTTGATTTCAGTCTTTACTACACGTGGCTTGGTCACTTCATGGCTAAAAACATGCTTGTGGAAGACCAGTCTGGCTCGGTGAGTCTGTGCGGCCAGCAGTCTCTGATCTGTACAGGGTATTAATGTGTCAGGGCTGAGTGTTCTGGGATTTGTCTAGAGGCTGGTAAGGGCTTCTGGACCACTTGTTTCTGTCCTGTCAGTCTGTCAGGGTTGGAAAGTCCAAGCCATAGGACCCAGTTTCCTTTCTTAGCTTACGTTATCTACCAGAGCACCGTGGGCTGTTACTTACCTTGAGTTGGAAGGGGTTCGCATTTATACCTGTAAAAGTATTCATCCTTTTAATTTATGTAAAGTTTTTTTGTATGCCATTCTGGATCTTTAAAGAGATGACAACAAATTTTGGTTTTCTACTGTTATGTGAGAACATTAGGCCCCAGCAACAGGTCACTGTTTAAGGAAAAATAAAAGTGCTGCCAGAACCTAAGAAAAACATTAATATCTAAAAGGTCATTTAGATGATTTCCATGAGAGACTTTTTGATGTTCTTTACCTGTTAGGATTATTATTGATAATCCTTTTCAGATTATGAATAAACAGTTTGCCCTCAAGTATTTATTCATGCTA	BUFFER|p.R45*|c.133C>T|5	.	.	.	.	.	ENSP00000354610	.	3-12/12	.	.	.	.	.	.	.	.	.	3-12/12	PASS	ENST00000361355	Transcript	.	.	ENSG00000240038	478	.	.	HIGH	2-11/11	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AMY2B_HUMAN	AMY2B	HGNC	C9JWK7_HUMAN,C9J2Z5_HUMAN	.	UPI0000000CB1	deletion	AMY2B,splice_acceptor_variant,,ENST00000435302,;AMY2B,splice_acceptor_variant,,ENST00000453959,;AMY2B,splice_acceptor_variant,,ENST00000361355,;AMY2B,transcript_ablation,,ENST00000462971,;AMY2B,transcript_ablation,,ENST00000481821,;AMY2B,splice_acceptor_variant,,ENST00000491397,;AMY2B,splice_acceptor_variant,,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,;	.	218	288	FAILED
EBNA1BP2	10969	.	GRCh37	1	43629870	43629870	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1569717590	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	9	0	ENST00000236051.2:c.*244A>G			ENST00000236051	NM_006824.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53308.1	.	MUTECT|MUSE	.	CATTATTTATC	NONE	.	.	.	.	.	ENSP00000407323	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000431635	Transcript	.	.	ENSG00000117395	15531	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	EBNA1BP2	HGNC	Q6IB29_HUMAN,H7C2Q8_HUMAN	.	UPI0000204E6D	SNV	EBNA1BP2,3_prime_UTR_variant,,ENST00000236051,;EBNA1BP2,3_prime_UTR_variant,,ENST00000431635,;EBNA1BP2,downstream_gene_variant,,ENST00000463906,;	1479	9	12	SUCCESS
TTLL7	79739	.	GRCh37	1	84335493	84335493	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	21	0	ENST00000260505.8:c.*152A>T			ENST00000260505	NM_024686.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS690.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTTATTAG	NONE	.	.	.	.	.	ENSP00000260505	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000260505	Transcript	.	.	ENSG00000137941	26242	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTLL7_HUMAN	TTLL7	HGNC	.	.	UPI000020391D	SNV	TTLL7,3_prime_UTR_variant,,ENST00000260505,;TTLL7,non_coding_transcript_exon_variant,,ENST00000472937,;TTLL7,non_coding_transcript_exon_variant,,ENST00000477524,;TTLL7,non_coding_transcript_exon_variant,,ENST00000480533,;TTLL7,non_coding_transcript_exon_variant,,ENST00000472688,;TTLL7,non_coding_transcript_exon_variant,,ENST00000488014,;TTLL7,3_prime_UTR_variant,,ENST00000474957,;TTLL7,3_prime_UTR_variant,,ENST00000480174,;	3194	21	22	SUCCESS
WDR33	55339	.	GRCh37	2	128462270	128462270	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	18	78	0	ENST00000322313.4:c.*1627A>G			ENST00000322313	NM_018383.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATTAGCT	NONE	.	.	.	.	.	ENSP00000325377	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,3_prime_UTR_variant,,ENST00000322313,;SFT2D3,downstream_gene_variant,,ENST00000310981,;	5797	78	77	SUCCESS
MATN3	4148	.	GRCh37	2	20192754	20192754	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	28	0	ENST00000407540.3:c.*118A>C			ENST00000407540	NM_002381.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46226.1	.	MUTECT|MUSE	.	AGCATTAATAC	NONE	.	.	.	.	.	ENSP00000383894	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000407540	Transcript	.	.	ENSG00000132031	6909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MATN3_HUMAN	MATN3	HGNC	.	.	UPI000012F809	SNV	MATN3,3_prime_UTR_variant,,ENST00000407540,;WDR35,upstream_gene_variant,,ENST00000345530,;WDR35,upstream_gene_variant,,ENST00000281405,;MATN3,downstream_gene_variant,,ENST00000421259,;AC079145.4,intron_variant,,ENST00000416575,;WDR35,upstream_gene_variant,,ENST00000414212,;MATN3,downstream_gene_variant,,ENST00000478482,;	1642	28	22	SUCCESS
NDUFS6	4726	.	GRCh37	5	1816119	1816119	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	60	168	1	ENST00000274137.5:c.*89G>C			ENST00000274137	NM_004553.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3866.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGAAGGGTAT	NONE	.	.	.	.	.	ENSP00000274137	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000274137	Transcript	1	.	ENSG00000145494	7713	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUS6_HUMAN	NDUFS6	HGNC	Q6IBC4_HUMAN	.	UPI000000DB49	SNV	NDUFS6,3_prime_UTR_variant,,ENST00000274137,;NDUFS6,downstream_gene_variant,,ENST00000469176,;	482	169	185	SUCCESS
NELFE	7936	.	GRCh37	6	31918993	31918993	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	18	67	0				ENST00000375429	NM_002904.5	643		0	.	.	.	.	.	C	K/T	protein_coding	YES	.	3434	RADIA|MUTECT|MUSE	.	TCGGAAGGAGG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000410815	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.981)	.	deleterious(0.01)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Lys184Thr,ENST00000483004,;CFB,missense_variant,p.Lys1145Thr,ENST00000456570,;CFB,missense_variant,p.Lys994Thr,ENST00000477310,;CFB,missense_variant,p.Lys1145Thr,ENST00000556679,;CFB,missense_variant,p.Lys643Thr,ENST00000425368,;NELFE,downstream_gene_variant,,ENST00000436289,;NELFE,downstream_gene_variant,,ENST00000375425,;CFB,upstream_gene_variant,,ENST00000498317,;NELFE,downstream_gene_variant,,ENST00000444811,;NELFE,downstream_gene_variant,,ENST00000375429,;NELFE,downstream_gene_variant,,ENST00000426722,;NELFE,downstream_gene_variant,,ENST00000441998,;CFB,downstream_gene_variant,,ENST00000475617,;NELFE,downstream_gene_variant,,ENST00000454913,;CFB,downstream_gene_variant,,ENST00000497841,;CFB,non_coding_transcript_exon_variant,,ENST00000482312,;CFB,non_coding_transcript_exon_variant,,ENST00000467360,;CFB,downstream_gene_variant,,ENST00000465750,;CFB,downstream_gene_variant,,ENST00000452035,;CFB,downstream_gene_variant,,ENST00000460718,;NELFE,downstream_gene_variant,,ENST00000492539,;CFB,downstream_gene_variant,,ENST00000472581,;NELFE,downstream_gene_variant,,ENST00000488426,;NELFE,downstream_gene_variant,,ENST00000494956,;CFB,downstream_gene_variant,,ENST00000482886,;NELFE,downstream_gene_variant,,ENST00000492185,;NELFE,downstream_gene_variant,,ENST00000481121,;NELFE,downstream_gene_variant,,ENST00000491139,;CFB,downstream_gene_variant,,ENST00000461483,;CFB,downstream_gene_variant,,ENST00000467150,;	3489	67	59	SUCCESS
NELFE	7936	.	GRCh37	6	31919010	31919010	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	69	0				ENST00000375429	NM_002904.5	649		0	.	.	.	.	.	T	N/Y	protein_coding	YES	.	3451	RADIA|MUTECT|MUSE	.	TCAAGAATGGG	NONE	.	.	PROSITE_profiles:PS50240,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	.	.	ENSP00000410815	.	27/30	.	.	.	.	.	.	.	.	.	27/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	probably_damaging(0.999)	.	tolerated(0.22)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Asn190Tyr,ENST00000483004,;CFB,missense_variant,p.Asn1151Tyr,ENST00000456570,;CFB,missense_variant,p.Asn1000Tyr,ENST00000477310,;CFB,missense_variant,p.Asn1151Tyr,ENST00000556679,;CFB,missense_variant,p.Asn649Tyr,ENST00000425368,;NELFE,downstream_gene_variant,,ENST00000436289,;NELFE,downstream_gene_variant,,ENST00000375425,;CFB,upstream_gene_variant,,ENST00000498317,;NELFE,downstream_gene_variant,,ENST00000444811,;NELFE,downstream_gene_variant,,ENST00000375429,;NELFE,downstream_gene_variant,,ENST00000426722,;NELFE,downstream_gene_variant,,ENST00000441998,;CFB,downstream_gene_variant,,ENST00000475617,;NELFE,downstream_gene_variant,,ENST00000454913,;CFB,downstream_gene_variant,,ENST00000497841,;CFB,non_coding_transcript_exon_variant,,ENST00000482312,;CFB,non_coding_transcript_exon_variant,,ENST00000467360,;CFB,downstream_gene_variant,,ENST00000465750,;CFB,downstream_gene_variant,,ENST00000452035,;CFB,downstream_gene_variant,,ENST00000460718,;NELFE,downstream_gene_variant,,ENST00000492539,;CFB,downstream_gene_variant,,ENST00000472581,;NELFE,downstream_gene_variant,,ENST00000488426,;NELFE,downstream_gene_variant,,ENST00000494956,;CFB,downstream_gene_variant,,ENST00000482886,;NELFE,downstream_gene_variant,,ENST00000492185,;NELFE,downstream_gene_variant,,ENST00000481121,;NELFE,downstream_gene_variant,,ENST00000491139,;CFB,downstream_gene_variant,,ENST00000461483,;CFB,downstream_gene_variant,,ENST00000467150,;	3506	69	50	SUCCESS
ZBED6CL	113763	.	GRCh37	7	150029593	150029593	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	22	76	0	ENST00000343855.4:c.*1389T>G			ENST00000343855	NM_138434.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5900.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGTTTCACTG	NONE	.	.	.	.	.	ENSP00000343242	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000343855	Transcript	.	.	ENSG00000188707	21720	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZB6CL_HUMAN	ZBED6CL	HGNC	.	.	UPI0000070AA6	SNV	ZBED6CL,3_prime_UTR_variant,,ENST00000343855,;LRRC61,intron_variant,,ENST00000493307,;LRRC61,intron_variant,,ENST00000359623,;LRRC61,intron_variant,,ENST00000323078,;LRRC61,downstream_gene_variant,,ENST00000463441,;	2656	76	61	SUCCESS
CT83	203413	.	GRCh37	X	115590099	115590099	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	185	334	0				ENST00000371894	NM_001017978.3	636		0	.	.	.	.	.	A	S/N	protein_coding	YES	CCDS14570.1	1907	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGTGGCA	NONE	.	.	.	.	.	ENSP00000360967	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000371900	Transcript	.	.	ENSG00000087916	11047	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.47)	.	S6A14_HUMAN	SLC6A14	HGNC	.	.	UPI0000072E3C	SNV	SLC6A14,missense_variant,p.Ser636Asn,ENST00000371900,;CT83,downstream_gene_variant,,ENST00000371894,;SLC6A14,non_coding_transcript_exon_variant,,ENST00000463626,;	1995	334	270	SUCCESS
MAGEB16	139604	.	GRCh37	X	35821445	35821445	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADE-01	TCGA-DD-AADE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	162	237	0	ENST00000399985.1:c.*157A>T			ENST00000399985				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43927.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGAAAAATA	NONE	.	.	.	.	.	ENSP00000382871	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000399989	Transcript	.	.	ENSG00000189023	21188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGBG_HUMAN	MAGEB16	HGNC	.	.	UPI00006C1BC1	SNV	MAGEB16,3_prime_UTR_variant,,ENST00000399987,;MAGEB16,3_prime_UTR_variant,,ENST00000399992,;MAGEB16,3_prime_UTR_variant,,ENST00000399988,;MAGEB16,3_prime_UTR_variant,,ENST00000399985,;MAGEB16,3_prime_UTR_variant,,ENST00000399989,;	1411	237	223	SUCCESS
OR5AL1	79482	.	GRCh37	11	56184984	56184984	+	downstream_gene_variant	3'Flank	SNP	C	C	G	.	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	30	114	0				ENST00000440231		242		0	.	.	.	.	.	G	G/A	protein_coding	YES	CCDS31530.1	725	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCCACAG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000308595	.	1/1	.	.	.	.	.	.	.	.	COSM1354643	1/1	PASS	ENST00000312253	Transcript	.	.	ENSG00000174942	14841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	possibly_damaging(0.739)	.	tolerated(0.55)	1	OR5R1_HUMAN	OR5R1	HGNC	.	.	UPI000004B225	SNV	OR5R1,missense_variant,p.Gly242Ala,ENST00000312253,;OR5AL1,downstream_gene_variant,,ENST00000327258,;OR5AL1,downstream_gene_variant,,ENST00000440231,;	725	114	132	SUCCESS
MS4A3	932	.	GRCh37	11	59837840	59837840	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	14	0	ENST00000278865.3:c.*134A>T			ENST00000278865	NM_006138.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31567.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCACAAGA	NONE	.	.	.	.	.	ENSP00000278865	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000278865	Transcript	.	.	ENSG00000149516	7317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MS4A3_HUMAN	MS4A3	HGNC	.	.	UPI000006E45E	SNV	MS4A3,3_prime_UTR_variant,,ENST00000395032,;MS4A3,3_prime_UTR_variant,,ENST00000358152,;MS4A3,3_prime_UTR_variant,,ENST00000278865,;MS4A3,downstream_gene_variant,,ENST00000534744,;MS4A3,non_coding_transcript_exon_variant,,ENST00000528952,;MS4A3,downstream_gene_variant,,ENST00000525686,;	852	14	26	SUCCESS
HCAR3	8843	.	GRCh37	12	123200023	123200023	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs1593742190	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	31	0	ENST00000528880.2:c.*98T>G			ENST00000528880	NM_006018.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53842.1	.	MUTECT|MUSE	.	GTCACACCTTG	NONE	.	.	.	.	.	ENSP00000436714	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000528880	Transcript	.	.	ENSG00000255398	16824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HCAR3_HUMAN	HCAR3	HGNC	.	.	UPI00001AFD35	SNV	HCAR3,3_prime_UTR_variant,,ENST00000528880,;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000543611,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000545293,;	1417	31	15	SUCCESS
SLC38A1	81539	.	GRCh37	12	46582714	46582714	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	29	26	0	ENST00000398637.5:c.*39A>T			ENST00000398637	NM_030674.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41774.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGACTGAGCA	NONE	.	.	.	.	.	ENSP00000381634	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000398637	Transcript	.	.	ENSG00000111371	13447	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S38A1_HUMAN	SLC38A1	HGNC	Q8NCD8_HUMAN,F8VX12_HUMAN	.	UPI000004D33C	SNV	SLC38A1,3_prime_UTR_variant,,ENST00000549049,;SLC38A1,3_prime_UTR_variant,,ENST00000398637,;SLC38A1,3_prime_UTR_variant,,ENST00000546893,;SLC38A1,3_prime_UTR_variant,,ENST00000439706,;	2198	26	50	SUCCESS
KLHL1	57626	.	GRCh37	13	70275509	70275509	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	27	9	0	ENST00000377844.4:c.*325T>C			ENST00000377844	NM_020866.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9445.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTCACAAATAT	NONE	.	.	.	.	.	ENSP00000367075	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000377844	Transcript	.	.	ENSG00000150361	6352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLHL1_HUMAN	KLHL1	HGNC	Q96RF4_HUMAN	.	UPI000004B136	SNV	KLHL1,3_prime_UTR_variant,,ENST00000377844,;KLHL1,downstream_gene_variant,,ENST00000545028,;	3332	9	29	SUCCESS
CRABP1	1381	.	GRCh37	15	78640425	78640425	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	16	0	ENST00000299529.6:c.*106A>T			ENST00000299529	NM_004378.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTAGGTGA	NONE	.	.	.	.	.	ENSP00000299529	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299529	Transcript	.	.	ENSG00000166426	2338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RABP1_HUMAN	CRABP1	HGNC	F1T0F7_HUMAN	.	UPI000013E5B1	SNV	CRABP1,3_prime_UTR_variant,,ENST00000299529,;CRABP1,non_coding_transcript_exon_variant,,ENST00000560753,;CRABP1,downstream_gene_variant,,ENST00000406419,;	625	16	16	SUCCESS
KRT17	3872	.	GRCh37	17	39775698	39775698	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	41	65	0	ENST00000311208.8:c.*148A>T			ENST00000311208	NM_000422.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11402.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGCTGAGTC	NONE	.	.	.	.	.	ENSP00000308452	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000311208	Transcript	.	.	ENSG00000128422	6427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1C17_HUMAN	KRT17	HGNC	K7ESE1_HUMAN,B4E2P9_HUMAN	.	UPI0000148FD6	SNV	JUP,3_prime_UTR_variant,,ENST00000540235,;KRT17,3_prime_UTR_variant,,ENST00000311208,;KRT17,downstream_gene_variant,,ENST00000577817,;KRT16,upstream_gene_variant,,ENST00000590990,;KRT17,downstream_gene_variant,,ENST00000590038,;KRT17,downstream_gene_variant,,ENST00000463128,;KRT17,non_coding_transcript_exon_variant,,ENST00000493253,;KRT17,downstream_gene_variant,,ENST00000491673,;	1515	65	65	SUCCESS
LOXHD1	125336	.	GRCh37	18	44140460	44140460	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs776869500	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	455	202	597	0				ENST00000300591	NM_001145472.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45861.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCGTGTGCC	NONE	.	1185	.	.	.	ENSP00000300591	.	.	.	.	.	.	.	.	.	.	rs776869500	.	PASS	ENST00000300591	Transcript	.	.	ENSG00000167210	26521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LOXH1_HUMAN	LOXHD1	HGNC	C9J269_HUMAN,C9IYQ1_HUMAN	.	UPI0000456B8D	SNV	LOXHD1,missense_variant,p.Thr883Ser,ENST00000536736,;LOXHD1,missense_variant,p.Thr605Ser,ENST00000398722,;LOXHD1,intron_variant,,ENST00000441551,;LOXHD1,upstream_gene_variant,,ENST00000419859,;LOXHD1,upstream_gene_variant,,ENST00000582408,;LOXHD1,upstream_gene_variant,,ENST00000300591,;LOXHD1,upstream_gene_variant,,ENST00000441893,;LOXHD1,upstream_gene_variant,,ENST00000579038,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	.	597	657	SUCCESS
ILF3	3609	.	GRCh37	19	10800046	10800046	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	8	51	0	ENST00000590261.1:c.*58T>C			ENST00000590261				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45965.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCGAGTTTTAT	NONE	.	.	.	.	.	ENSP00000404121	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000449870	Transcript	.	.	ENSG00000129351	6038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ILF3_HUMAN	ILF3	HGNC	K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN	.	UPI000059D66A	SNV	ILF3,3_prime_UTR_variant,,ENST00000590261,;ILF3,3_prime_UTR_variant,,ENST00000318511,;ILF3,3_prime_UTR_variant,,ENST00000590869,;ILF3,3_prime_UTR_variant,,ENST00000449870,;ILF3,downstream_gene_variant,,ENST00000250241,;ILF3,downstream_gene_variant,,ENST00000588657,;ILF3,downstream_gene_variant,,ENST00000589998,;ILF3,downstream_gene_variant,,ENST00000593061,;ILF3,downstream_gene_variant,,ENST00000407004,;ILF3,downstream_gene_variant,,ENST00000420083,;ILF3,downstream_gene_variant,,ENST00000592763,;ILF3,non_coding_transcript_exon_variant,,ENST00000586544,;ILF3,non_coding_transcript_exon_variant,,ENST00000591649,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;	3072	51	71	SUCCESS
GSTM5	2949	.	GRCh37	1	110251184	110251184	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs576503599	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	237	43	231	0				ENST00000256593	NM_000851.3			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS811.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCGAGAG	NONE	byCluster|by1000G	3693	.	T:0	.	ENSP00000256593	T:0	.	.	.	.	.	.	.	.	.	rs576503599	.	PASS	ENST00000256593	Transcript	.	T:0.0002	ENSG00000134201	4637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	GSTM5_HUMAN	GSTM5	HGNC	Q5T8R2_HUMAN	.	UPI000013CF16	SNV	GSTM2,stop_gained,p.Arg217Ter,ENST00000369831,;GSTM1,3_prime_UTR_variant,,ENST00000483399,;GSTM5,upstream_gene_variant,,ENST00000369812,;GSTM5,upstream_gene_variant,,ENST00000256593,;GSTM5,upstream_gene_variant,,ENST00000369813,;GSTM1,non_coding_transcript_exon_variant,,ENST00000490021,;GSTM5,upstream_gene_variant,,ENST00000492718,;GSTM5,upstream_gene_variant,,ENST00000429410,;	.	232	281	SUCCESS
KCNC4	3749	.	GRCh37	1	110774955	110774955	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	16	0	ENST00000369787.3:c.*24G>A			ENST00000369787	NM_004978.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS821.1	.	MUTECT|MUSE	.	ACATGGCATCA	NONE	.	.	.	.	.	ENSP00000358802	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000369787	Transcript	.	.	ENSG00000116396	6236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNC4_HUMAN	KCNC4	HGNC	.	.	UPI000013CAC8	SNV	KCNC4,3_prime_UTR_variant,,ENST00000369787,;KCNC4,intron_variant,,ENST00000413138,;KCNC4,intron_variant,,ENST00000438661,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,3_prime_UTR_variant,,ENST00000469655,;KCNC4,intron_variant,,ENST00000459877,;	1959	16	17	SUCCESS
RHOU	58480	.	GRCh37	1	228879610	228879610	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	44	0	ENST00000366691.3:c.*123G>T			ENST00000366691	NM_021205.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1575.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAGGAGGAG	NONE	.	.	.	.	.	ENSP00000355652	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366691	Transcript	.	.	ENSG00000116574	17794	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOU_HUMAN	RHOU	HGNC	.	.	UPI0000073CDF	SNV	RHOU,3_prime_UTR_variant,,ENST00000366691,;RHOU,upstream_gene_variant,,ENST00000473307,;RHOU,upstream_gene_variant,,ENST00000493528,;	1566	44	73	SUCCESS
LPHN2	0	.	GRCh37	1	82456883	82456883	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	21	0	ENST00000370717.2:c.*54A>G			ENST00000370717				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS689.1	.	RADIA|MUTECT|MUSE	.	AAGACACCATT	NONE	.	.	.	.	.	ENSP00000322270	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000319517	Transcript	.	.	ENSG00000117114	18582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPHN2_HUMAN	LPHN2	HGNC	.	.	UPI000005046B	SNV	LPHN2,3_prime_UTR_variant,,ENST00000370730,;LPHN2,3_prime_UTR_variant,,ENST00000335786,;LPHN2,3_prime_UTR_variant,,ENST00000370713,;LPHN2,3_prime_UTR_variant,,ENST00000370717,;LPHN2,3_prime_UTR_variant,,ENST00000370727,;LPHN2,3_prime_UTR_variant,,ENST00000370725,;LPHN2,3_prime_UTR_variant,,ENST00000319517,;LPHN2,3_prime_UTR_variant,,ENST00000271029,;LPHN2,3_prime_UTR_variant,,ENST00000370728,;LPHN2,3_prime_UTR_variant,,ENST00000359929,;LPHN2,3_prime_UTR_variant,,ENST00000370715,;LPHN2,3_prime_UTR_variant,,ENST00000370723,;LPHN2,3_prime_UTR_variant,,ENST00000402328,;LPHN2,3_prime_UTR_variant,,ENST00000370721,;LPHN2,3_prime_UTR_variant,,ENST00000394879,;LPHN2,3_prime_UTR_variant,,ENST00000449420,;LPHN2,non_coding_transcript_exon_variant,,ENST00000469377,;LPHN2,downstream_gene_variant,,ENST00000472424,;LPHN2,downstream_gene_variant,,ENST00000464775,;LPHN2,downstream_gene_variant,,ENST00000464551,;	4482	21	25	SUCCESS
CLCA4	22802	.	GRCh37	1	87046048	87046048	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	10	33	1	ENST00000370563.3:c.*20T>A			ENST00000370563	NM_012128.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41355.1	.	SOMATICSNIPER|VARSCANS	.	AAAAATCTTCA	NONE	.	.	.	.	.	ENSP00000359594	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000370563	Transcript	.	.	ENSG00000016602	2018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLCA4_HUMAN	CLCA4	HGNC	Q9NXP1_HUMAN	.	UPI00000389E8	SNV	CLCA4,3_prime_UTR_variant,,ENST00000370563,;RP4-651E10.4,intron_variant,,ENST00000456587,;	2822	34	51	SUCCESS
SOWAHC	65124	.	GRCh37	2	110375135	110375135	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs150708724	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	13	115	0	ENST00000356454.3:c.*1491G>A			ENST00000356454	NM_023016.3			0	.	T:0.0008	.	T:0	.	A	.	protein_coding	YES	CCDS33270.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCGCGTAGTT	NONE	by1000G	.	.	T:0	.	ENSP00000365830	T:0	1/1	.	.	.	.	.	.	.	.	rs150708724	1/1	PASS	ENST00000356454	Transcript	.	T:0.0002	ENSG00000198142	26149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	SWAHC_HUMAN	SOWAHC	HGNC	.	.	UPI0000208A9B	SNV	SOWAHC,3_prime_UTR_variant,,ENST00000356454,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000545389,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000397712,;SEPT10,upstream_gene_variant,,ENST00000334001,;SEPT10,upstream_gene_variant,,ENST00000397714,;SEPT10,upstream_gene_variant,,ENST00000356688,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	3225	115	126	SUCCESS
ARHGAP15	55843	.	GRCh37	2	144525919	144525919	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	18	0	ENST00000295095.6:c.*178A>G			ENST00000295095	NM_018460.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2184.1	.	RADIA|MUTECT|MUSE	.	TGACAATATTT	NONE	.	.	.	.	.	ENSP00000295095	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000295095	Transcript	.	.	ENSG00000075884	21030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RHG15_HUMAN	ARHGAP15	HGNC	.	.	UPI0000035D98	SNV	ARHGAP15,3_prime_UTR_variant,,ENST00000295095,;CTD-2252P21.1,intron_variant,,ENST00000548756,;ARHGAP15,downstream_gene_variant,,ENST00000549060,;	1773	18	13	SUCCESS
TACR1	6869	.	GRCh37	2	75276482	75276482	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	17	0	ENST00000305249.5:c.*77T>A			ENST00000305249	NM_001058.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1958.1	.	MUTECT|MUSE	.	GTTCCAGATGA	NONE	.	.	.	.	.	ENSP00000303522	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000305249	Transcript	.	.	ENSG00000115353	11526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NK1R_HUMAN	TACR1	HGNC	Q53TR1_HUMAN,Q53TQ2_HUMAN	.	UPI0000039D68	SNV	TACR1,3_prime_UTR_variant,,ENST00000305249,;TACR1,downstream_gene_variant,,ENST00000409848,;	2067	17	20	SUCCESS
TECRL	253017	.	GRCh37	4	65145611	65145611	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	22	0	ENST00000381210.3:c.*179T>C			ENST00000381210	NM_001010874.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33990.1	.	MUTECT|MUSE	.	TTTATACTTTT	NONE	.	.	.	.	.	ENSP00000370607	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000381210	Transcript	.	.	ENSG00000205678	27365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TECRL_HUMAN	TECRL	HGNC	D6RBZ3_HUMAN	.	UPI0000141A54	SNV	TECRL,3_prime_UTR_variant,,ENST00000381210,;TECRL,intron_variant,,ENST00000507440,;TECRL,downstream_gene_variant,,ENST00000511997,;	1382	22	21	SUCCESS
XRCC4	7518	.	GRCh37	5	82649150	82649150	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1293606901	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	103	14	87	0	ENST00000338635.6:c.*89G>A			ENST00000338635				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4059.1	.	MUTECT|MUSE	.	CAGCCGCTATT	NONE	.	.	.	.	.	ENSP00000421491	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000511817	Transcript	1	.	ENSG00000152422	12831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XRCC4_HUMAN	XRCC4	HGNC	.	.	UPI000006DF4E	SNV	XRCC4,3_prime_UTR_variant,,ENST00000338635,;XRCC4,3_prime_UTR_variant,,ENST00000511817,;XRCC4,3_prime_UTR_variant,,ENST00000282268,;XRCC4,3_prime_UTR_variant,,ENST00000396027,;	1180	87	117	SUCCESS
TBC1D32	221322	.	GRCh37	6	121401886	121401897	+	downstream_gene_variant	3'Flank	DEL	AAACCTAAATTT	AAACCTAAATTT	-	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	AAACCTAAATTT	AAACCTAAATTT	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	90	0				ENST00000398212	NM_152730.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43501.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TAAATAAAACCTAAATTTAAACC	NONE	.	20	.	.	.	ENSP00000381270	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	deletion	TBC1D32,3_prime_UTR_variant,,ENST00000275159,;TBC1D32,downstream_gene_variant,,ENST00000398212,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,downstream_gene_variant,,ENST00000519972,;	.	90	68	SUCCESS
MAP7	9053	.	GRCh37	6	136665278	136665278	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	26	0	ENST00000354570.3:c.*88T>G			ENST00000354570	NM_001198616.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56455.1	.	MUTECT|MUSE	.	GGTGGAGGGGA	NONE	.	.	.	.	.	ENSP00000414712	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000454590	Transcript	.	.	ENSG00000135525	6869	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAP7_HUMAN	MAP7	HGNC	.	.	UPI0001AE72EF	SNV	MAP7,3_prime_UTR_variant,,ENST00000544465,;MAP7,3_prime_UTR_variant,,ENST00000454590,;MAP7,3_prime_UTR_variant,,ENST00000354570,;MAP7,3_prime_UTR_variant,,ENST00000438100,;MAP7,3_prime_UTR_variant,,ENST00000432797,;	2522	26	13	SUCCESS
STXBP5	134957	.	GRCh37	6	147705934	147705934	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	101	366	0				ENST00000321680	NM_001127715.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47499.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAGTTTT	NONE	.	43	.	.	.	ENSP00000321826	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000321680	Transcript	.	.	ENSG00000164506	19665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STXB5_HUMAN	STXBP5	HGNC	.	.	UPI0000199FE0	SNV	STXBP5,3_prime_UTR_variant,,ENST00000179882,;STXBP5,3_prime_UTR_variant,,ENST00000367481,;STXBP5,downstream_gene_variant,,ENST00000321680,;STXBP5,downstream_gene_variant,,ENST00000367480,;RP11-361F15.2,upstream_gene_variant,,ENST00000443556,;	.	366	248	SUCCESS
GMPR	2766	.	GRCh37	6	16295435	16295435	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs749929417	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	37	0	ENST00000259727.4:c.*18C>T			ENST00000259727	NM_006877.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4537.1	.	MUTECT|MUSE	.	AGCAGCGTCTG	NONE	.	.	.	.	.	ENSP00000259727	.	9/9	.	.	.	.	.	.	.	.	rs749929417	9/9	PASS	ENST00000259727	Transcript	.	.	ENSG00000137198	4376	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GMPR1_HUMAN	GMPR	HGNC	.	.	UPI000012B8B2	SNV	GMPR,3_prime_UTR_variant,,ENST00000259727,;ATXN1,downstream_gene_variant,,ENST00000244769,;ATXN1,downstream_gene_variant,,ENST00000436367,;GMPR,non_coding_transcript_exon_variant,,ENST00000544145,;GMPR,non_coding_transcript_exon_variant,,ENST00000543191,;GMPR,downstream_gene_variant,,ENST00000540478,;	1170	37	50	SUCCESS
TMEM30A	55754	.	GRCh37	6	75965616	75965616	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	10	0	ENST00000230461.6:c.*202T>G			ENST00000230461	NM_018247.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4983.1	.	MUTECT|MUSE	.	GATCAATATAG	NONE	.	.	.	.	.	ENSP00000230461	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000230461	Transcript	.	.	ENSG00000112697	16667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC50A_HUMAN	TMEM30A	HGNC	E5RG19_HUMAN	.	UPI0000071AE1	SNV	TMEM30A,3_prime_UTR_variant,,ENST00000370050,;TMEM30A,3_prime_UTR_variant,,ENST00000230461,;TMEM30A,3_prime_UTR_variant,,ENST00000475111,;TMEM30A,downstream_gene_variant,,ENST00000518161,;	1618	10	10	SUCCESS
NTMT1	28989	.	GRCh37	9	132397747	132397747	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs369469508	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	18	30	0	ENST00000372480.1:c.*4G>A			ENST00000372480				0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS35160.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCGGGGCT	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000361564	.	4/4	.	.	.	.	.	.	.	.	rs369469508	4/4	PASS	ENST00000372486	Transcript	.	.	ENSG00000148335	23373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTM1A_HUMAN	NTMT1	HGNC	S4R338_HUMAN	.	UPI000004A00F	SNV	NTMT1,3_prime_UTR_variant,,ENST00000372481,;NTMT1,3_prime_UTR_variant,,ENST00000372486,;NTMT1,3_prime_UTR_variant,,ENST00000482347,;NTMT1,3_prime_UTR_variant,,ENST00000372483,;NTMT1,3_prime_UTR_variant,,ENST00000372480,;ASB6,downstream_gene_variant,,ENST00000277458,;NTMT1,downstream_gene_variant,,ENST00000459968,;ASB6,downstream_gene_variant,,ENST00000450050,;ASB6,downstream_gene_variant,,ENST00000277459,;NTMT1,downstream_gene_variant,,ENST00000486391,;NTMT1,downstream_gene_variant,,ENST00000481189,;	1025	30	27	SUCCESS
FAM189A2	9413	.	GRCh37	9	72006805	72006805	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	62	73	1	ENST00000257515.8:c.*85A>T			ENST00000257515	NM_004816.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6629.1	.	SOMATICSNIPER|VARSCANS	.	CCTCAAAAAAA	NONE	.	.	.	.	.	ENSP00000257515	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000257515	Transcript	.	.	ENSG00000135063	24820	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F1892_HUMAN	FAM189A2	HGNC	.	.	UPI000022D765	SNV	FAM189A2,3_prime_UTR_variant,,ENST00000455972,;FAM189A2,3_prime_UTR_variant,,ENST00000257515,;FAM189A2,3_prime_UTR_variant,,ENST00000377216,;FAM189A2,3_prime_UTR_variant,,ENST00000303068,;FAM189A2,non_coding_transcript_exon_variant,,ENST00000460871,;FAM189A2,downstream_gene_variant,,ENST00000469179,;	1858	74	99	SUCCESS
NXF3	56000	.	GRCh37	X	102331177	102331177	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	42	69	0	ENST00000395065.3:c.*41T>A			ENST00000395065	NM_022052.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14503.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCATGCAA	NONE	.	.	.	.	.	ENSP00000378504	.	19/20	.	.	.	.	.	.	.	.	.	19/20	PASS	ENST00000395065	Transcript	.	.	ENSG00000147206	8073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXF3_HUMAN	NXF3	HGNC	.	.	UPI00000015F8	SNV	NXF3,3_prime_UTR_variant,,ENST00000425644,;NXF3,3_prime_UTR_variant,,ENST00000395065,;NXF3,downstream_gene_variant,,ENST00000427570,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,downstream_gene_variant,,ENST00000494300,;NXF3,downstream_gene_variant,,ENST00000468528,;NXF3,downstream_gene_variant,,ENST00000470724,;	1739	69	74	SUCCESS
NRK	203447	.	GRCh37	X	105199690	105199690	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	21	91	0	ENST00000243300.9:c.*98A>T			ENST00000243300	NM_198465.2			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTAGTAAA	NONE	.	.	.	.	.	ENSP00000438378	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000428173	Transcript	.	.	ENSG00000123572	25391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NRK	HGNC	F5H049_HUMAN,B7Z6I7_HUMAN	.	UPI00015E03BB	SNV	NRK,3_prime_UTR_variant,,ENST00000540278,;NRK,3_prime_UTR_variant,,ENST00000428173,;NRK,3_prime_UTR_variant,,ENST00000243300,;	5153	91	86	SUCCESS
IRS4	8471	.	GRCh37	X	107975739	107975739	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	33	56	0	ENST00000372129.2:c.*62T>A			ENST00000372129	NM_003604.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14544.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTAGACTG	NONE	.	.	.	.	.	ENSP00000361202	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000372129	Transcript	.	.	ENSG00000133124	6128	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRS4_HUMAN	IRS4	HGNC	.	.	UPI0000073FE7	SNV	IRS4,3_prime_UTR_variant,,ENST00000372129,;RP6-24A23.6,intron_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;	3913	56	52	SUCCESS
GPC3	2719	.	GRCh37	X	132669955	132669955	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	9	16	0	ENST00000370818.3:c.*197T>A			ENST00000370818	NM_001164618.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55496.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCACTAAA	NONE	.	.	.	.	.	ENSP00000377836	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000394299	Transcript	.	.	ENSG00000147257	4451	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPC3_HUMAN	GPC3	HGNC	.	.	UPI00015E044A	SNV	GPC3,3_prime_UTR_variant,,ENST00000394299,;GPC3,3_prime_UTR_variant,,ENST00000370818,;GPC3,downstream_gene_variant,,ENST00000543339,;RNU6-203P,upstream_gene_variant,,ENST00000384038,;	2206	16	17	SUCCESS
F8	2157	.	GRCh37	X	154065842	154065842	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs376482768	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	24	75	0	ENST00000360256.4:c.*30G>A			ENST00000360256	NM_000132.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS35457.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGACGGCAG	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000353393	.	26/26	.	.	.	.	.	.	.	.	rs376482768	26/26	PASS	ENST00000360256	Transcript	.	.	ENSG00000185010	3546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA8_HUMAN	F8	HGNC	Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN	.	UPI000012A416	SNV	F8,3_prime_UTR_variant,,ENST00000360256,;F8,3_prime_UTR_variant,,ENST00000330287,;SMIM9,upstream_gene_variant,,ENST00000369529,;SMIM9,upstream_gene_variant,,ENST00000478043,;	7287	75	82	SUCCESS
PCYT1B	9468	.	GRCh37	X	24580385	24580385	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	54	0	ENST00000379144.2:c.*25A>G			ENST00000379144	NM_004845.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14213.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGGTGCGGC	NONE	.	.	.	.	.	ENSP00000368439	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000379144	Transcript	.	.	ENSG00000102230	8755	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCY1B_HUMAN	PCYT1B	HGNC	.	.	UPI000012864E	SNV	PCYT1B,3_prime_UTR_variant,,ENST00000379144,;PCYT1B,3_prime_UTR_variant,,ENST00000379145,;PCYT1B,intron_variant,,ENST00000356768,;PCYT1B,downstream_gene_variant,,ENST00000496020,;	1266	54	59	SUCCESS
NUDT10	170685	.	GRCh37	X	51079093	51079093	+	splice_region_variant,3_prime_UTR_variant	Splice_Region	SNP	G	G	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	281	110	328	0	ENST00000356450.2:c.*2G>A			ENST00000356450				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35278.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGTGAATGG	NONE	.	.	.	.	.	ENSP00000365174	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376006	Transcript	.	.	ENSG00000122824	17621	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUD10_HUMAN	NUDT10	HGNC	.	.	UPI000006D69E	SNV	NUDT10,splice_region_variant,,ENST00000356450,;NUDT10,splice_region_variant,,ENST00000376006,;	717	328	392	SUCCESS
IGBP1	3476	.	GRCh37	X	69385902	69385902	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADF-01	TCGA-DD-AADF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	48	157	1	ENST00000342206.6:c.*71T>A			ENST00000342206				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14396.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCCTCCCTG	NONE	.	.	.	.	.	ENSP00000363661	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000342206	Transcript	.	.	ENSG00000089289	5461	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IGBP1_HUMAN	IGBP1	HGNC	.	.	UPI0000119C1E	SNV	IGBP1,3_prime_UTR_variant,,ENST00000342206,;IGBP1,3_prime_UTR_variant,,ENST00000356413,;IGBP1-AS1,upstream_gene_variant,,ENST00000366397,;	1590	158	166	SUCCESS
ADARB2	105	.	GRCh37	10	1229065	1229065	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs907659796	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	43	0	ENST00000381312.1:c.*68C>T			ENST00000381312	NM_018702.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7058.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACGTCGCC	NONE	.	.	.	.	.	ENSP00000370713	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000381312	Transcript	.	.	ENSG00000185736	227	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RED2_HUMAN	ADARB2	HGNC	Q5VW43_HUMAN	.	UPI0000071776	SNV	ADARB2,3_prime_UTR_variant,,ENST00000381310,;ADARB2,3_prime_UTR_variant,,ENST00000381312,;ADARB2,downstream_gene_variant,,ENST00000381305,;ADARB2,non_coding_transcript_exon_variant,,ENST00000474762,;ADARB2,non_coding_transcript_exon_variant,,ENST00000490172,;	2614	43	36	SUCCESS
BACE1	23621	.	GRCh37	11	117160194	117160194	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	19	0	ENST00000313005.6:c.*88del			ENST00000313005	NM_138971.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8383.1	.	INDELOCATOR|VARSCANI	.	GGCCACAGGTGC	NONE	.	.	.	.	.	ENSP00000318585	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000313005	Transcript	.	.	ENSG00000186318	933	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BACE1_HUMAN	BACE1	HGNC	U3KPS1_HUMAN,H0YDX0_HUMAN	.	UPI000013F419	deletion	BACE1,3_prime_UTR_variant,,ENST00000313005,;BACE1,3_prime_UTR_variant,,ENST00000528053,;BACE1,3_prime_UTR_variant,,ENST00000392937,;BACE1,downstream_gene_variant,,ENST00000504995,;BACE1,downstream_gene_variant,,ENST00000510915,;BACE1,downstream_gene_variant,,ENST00000428381,;BACE1,downstream_gene_variant,,ENST00000510630,;BACE1,downstream_gene_variant,,ENST00000445823,;RNF214,downstream_gene_variant,,ENST00000531452,;RNF214,downstream_gene_variant,,ENST00000300650,;RNF214,downstream_gene_variant,,ENST00000531287,;RNF214,downstream_gene_variant,,ENST00000530849,;BACE1,downstream_gene_variant,,ENST00000513780,;BACE1,downstream_gene_variant,,ENST00000514464,;RNF214,downstream_gene_variant,,ENST00000534709,;BACE1,downstream_gene_variant,,ENST00000530824,;BACE1,downstream_gene_variant,,ENST00000509916,;	2055	19	25	SUCCESS
OR51E1	143503	.	GRCh37	11	4675652	4675652	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	29	83	0	ENST00000396952.5:c.*939T>C			ENST00000396952	NM_152430.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31358.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTGTCCTGG	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	2546	83	76	SUCCESS
TBX6	6911	.	GRCh37	16	30097529	30097529	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	143	29	136	0	ENST00000279386.2:c.*17del			ENST00000279386				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10670.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCAGAGGGGC	NONE	.	.	.	.	.	ENSP00000378650	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000395224	Transcript	.	.	ENSG00000149922	11605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBX6_HUMAN	TBX6	HGNC	.	.	UPI000013DBC7	deletion	TBX6,3_prime_UTR_variant,,ENST00000395224,;TBX6,3_prime_UTR_variant,,ENST00000279386,;PPP4C,downstream_gene_variant,,ENST00000562222,;PPP4C,downstream_gene_variant,,ENST00000279387,;PPP4C,downstream_gene_variant,,ENST00000562664,;PPP4C,downstream_gene_variant,,ENST00000561610,;TBX6,downstream_gene_variant,,ENST00000553607,;TBX6,3_prime_UTR_variant,,ENST00000567664,;PPP4C,downstream_gene_variant,,ENST00000563732,;PPP4C,downstream_gene_variant,,ENST00000567828,;PPP4C,downstream_gene_variant,,ENST00000566749,;PPP4C,downstream_gene_variant,,ENST00000564966,;PPP4C,downstream_gene_variant,,ENST00000567040,;PPP4C,downstream_gene_variant,,ENST00000568810,;PPP4C,downstream_gene_variant,,ENST00000563200,;PPP4C,downstream_gene_variant,,ENST00000567642,;PPP4C,downstream_gene_variant,,ENST00000563597,;	1388	136	172	SUCCESS
ATXN1L	342371	.	GRCh37	16	71888884	71888884	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	29	66	0	ENST00000427980.2:c.*3171G>T			ENST00000427980	NM_001137675.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45523.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGCTGGT	NONE	.	.	.	.	.	ENSP00000415822	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000427980	Transcript	.	.	ENSG00000224470	33279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATX1L_HUMAN	ATXN1L	HGNC	G1UI23_HUMAN	.	UPI0000198982	SNV	ATXN1L,3_prime_UTR_variant,,ENST00000427980,;IST1,intron_variant,,ENST00000568581,;ZNF821,downstream_gene_variant,,ENST00000565601,;ZNF821,downstream_gene_variant,,ENST00000425432,;ZNF821,downstream_gene_variant,,ENST00000313565,;ZNF821,downstream_gene_variant,,ENST00000446827,;ZNF821,downstream_gene_variant,,ENST00000564134,;ATXN1L,intron_variant,,ENST00000569119,;ZNF821,downstream_gene_variant,,ENST00000568961,;ZNF821,downstream_gene_variant,,ENST00000566987,;	5534	66	72	SUCCESS
CDK3	1018	.	GRCh37	17	74001653	74001653	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1201599524	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	9	0	ENST00000425876.2:c.*149G>A			ENST00000425876				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11736.1	.	MUTECT|MUSE	.	GTCCTGCCCGC	NONE	.	.	.	.	.	ENSP00000410561	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000425876	Transcript	.	.	ENSG00000250506	1772	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDK3_HUMAN	CDK3	HGNC	K7ELV5_HUMAN,K7EJ83_HUMAN	.	UPI0000113587	SNV	CDK3,3_prime_UTR_variant,,ENST00000448471,;CDK3,3_prime_UTR_variant,,ENST00000425876,;EVPL,intron_variant,,ENST00000589231,;EVPL,downstream_gene_variant,,ENST00000586740,;EVPL,downstream_gene_variant,,ENST00000301607,;CDK3,downstream_gene_variant,,ENST00000588812,;TEN1,downstream_gene_variant,,ENST00000416485,;CDK3,downstream_gene_variant,,ENST00000586261,;TEN1,downstream_gene_variant,,ENST00000397640,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000587569,;	1155	9	15	SUCCESS
RTTN	25914	.	GRCh37	18	67671229	67671229	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	11	0	ENST00000255674.6:c.*158A>C			ENST00000255674	NM_173630.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGTTGGAGT	NONE	.	.	.	.	.	ENSP00000255674	.	49/49	.	.	.	.	.	.	.	.	.	49/49	PASS	ENST00000255674	Transcript	.	.	ENSG00000176225	18654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTTN_HUMAN	RTTN	HGNC	.	.	UPI0000201E92	SNV	RTTN,3_prime_UTR_variant,,ENST00000255674,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000578780,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;RTTN,downstream_gene_variant,,ENST00000580034,;	7126	11	15	SUCCESS
EPS8L1	54869	.	GRCh37	19	55599118	55599118	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	8	30	0	ENST00000201647.6:c.*136G>A			ENST00000201647	NM_133180.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12914.1	.	MUTECT|MUSE	.	CGGTGGACAGA	NONE	.	.	.	.	.	ENSP00000201647	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000201647	Transcript	.	.	ENSG00000131037	21295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ES8L1_HUMAN	EPS8L1	HGNC	B4DKV7_HUMAN	.	UPI000013C630	SNV	EPS8L1,3_prime_UTR_variant,,ENST00000586329,;EPS8L1,3_prime_UTR_variant,,ENST00000245618,;EPS8L1,3_prime_UTR_variant,,ENST00000201647,;EPS8L1,3_prime_UTR_variant,,ENST00000540810,;PPP1R12C,downstream_gene_variant,,ENST00000435544,;PPP1R12C,downstream_gene_variant,,ENST00000263433,;EPS8L1,downstream_gene_variant,,ENST00000588359,;PPP1R12C,downstream_gene_variant,,ENST00000591938,;PPP1R12C,downstream_gene_variant,,ENST00000592993,;PPP1R12C,downstream_gene_variant,,ENST00000376393,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587901,;EPS8L1,downstream_gene_variant,,ENST00000592824,;EPS8L1,downstream_gene_variant,,ENST00000585347,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587715,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,downstream_gene_variant,,ENST00000587786,;PPP1R12C,downstream_gene_variant,,ENST00000590268,;EPS8L1,downstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592284,;	2364	30	38	SUCCESS
FAM212B	0	.	GRCh37	1	112269468	112269468	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	18	0	ENST00000357260.5:c.*122G>C			ENST00000357260	NM_019099.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTTCTGGGG	NONE	.	.	.	.	.	ENSP00000349805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357260	Transcript	.	.	ENSG00000197852	28045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F212B_HUMAN	FAM212B	HGNC	.	.	UPI0000072CD1	SNV	FAM212B,3_prime_UTR_variant,,ENST00000357260,;FAM212B,3_prime_UTR_variant,,ENST00000444059,;FAM212B,intron_variant,,ENST00000534365,;FAM212B,downstream_gene_variant,,ENST00000527621,;FAM212B,intron_variant,,ENST00000527570,;	1198	18	20	SUCCESS
CASP9	842	.	GRCh37	1	15818008	15818011	+	downstream_gene_variant	3'Flank	DEL	TTTG	TTTG	-	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	TTTG	TTTG	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	24	0				ENST00000333868				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS158.1	.	VARSCANI*|PINDEL	.	CTGCACTTTGGGAGG	NONE	.	754	.	.	.	ENSP00000330237	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000333868	Transcript	.	.	ENSG00000132906	1511	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CASP9_HUMAN	CASP9	HGNC	Q5JRU2_HUMAN	.	UPI000012D14F	deletion	CASP9,3_prime_UTR_variant,,ENST00000546424,;CASP9,downstream_gene_variant,,ENST00000348549,;CASP9,downstream_gene_variant,,ENST00000333868,;CASP9,downstream_gene_variant,,ENST00000447522,;CELA2B,downstream_gene_variant,,ENST00000375910,;CASP9,downstream_gene_variant,,ENST00000375890,;CASP9,downstream_gene_variant,,ENST00000424908,;CELA2B,downstream_gene_variant,,ENST00000488764,;CASP9,downstream_gene_variant,,ENST00000400777,;CASP9,downstream_gene_variant,,ENST00000474305,;	.	24	22	SUCCESS
USP48	84196	.	GRCh37	1	22005824	22005825	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	86	36	90	0	ENST00000308271.9:c.*85dup			ENST00000308271	NM_032236.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30623.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCTTAAATC	NONE	.	.	.	.	.	ENSP00000309262	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000308271	Transcript	.	.	ENSG00000090686	18533	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	UBP48_HUMAN	USP48	HGNC	E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN	.	UPI0000192195	insertion	USP48,3_prime_UTR_variant,,ENST00000374732,;USP48,3_prime_UTR_variant,,ENST00000308271,;USP48,3_prime_UTR_variant,,ENST00000400301,;USP48,downstream_gene_variant,,ENST00000529637,;USP48,non_coding_transcript_exon_variant,,ENST00000479177,;	3842-3843	90	122	SUCCESS
MOCS3	27304	.	GRCh37	20	49577678	49577678	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	54	143	0	ENST00000244051.1:c.*916C>T			ENST00000244051	NM_014484.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTCCACCTT	NONE	.	.	.	.	.	ENSP00000244051	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244051	Transcript	.	.	ENSG00000124217	15765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOCS3_HUMAN	MOCS3	HGNC	.	.	UPI000012F369	SNV	MOCS3,3_prime_UTR_variant,,ENST00000244051,;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000371588,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000466152,;	2316	143	141	SUCCESS
CABP7	164633	.	GRCh37	22	30127136	30127136	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs770623089	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	58	0	ENST00000216144.3:c.*1578T>C			ENST00000216144	NM_182527.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13868.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCGTAGCAG	NONE	.	.	.	.	.	ENSP00000380883	.	7/7	.	.	.	.	.	.	.	.	rs770623089	7/7	PASS	ENST00000397781	Transcript	.	.	ENSG00000100319	28046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMAT5_HUMAN	ZMAT5	HGNC	.	.	UPI0000072567	SNV	ZMAT5,3_prime_UTR_variant,,ENST00000397781,;ZMAT5,3_prime_UTR_variant,,ENST00000344318,;CABP7,3_prime_UTR_variant,,ENST00000216144,;	842	59	55	SUCCESS
PUS10	150962	.	GRCh37	2	61169327	61169327	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	72	0	ENST00000316752.6:c.*203G>A			ENST00000316752	NM_144709.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1865.1	.	MUTECT|MUSE	.	TAAGACATCCT	NONE	.	.	.	.	.	ENSP00000326003	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000316752	Transcript	.	.	ENSG00000162927	26505	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PUS10_HUMAN	PUS10	HGNC	C9JNL8_HUMAN	.	UPI000013E1F4	SNV	PUS10,3_prime_UTR_variant,,ENST00000316752,;PUS10,downstream_gene_variant,,ENST00000407787,;PUS10,non_coding_transcript_exon_variant,,ENST00000602599,;AC010733.5,upstream_gene_variant,,ENST00000451515,;NONOP2,upstream_gene_variant,,ENST00000414613,;	2055	72	71	SUCCESS
B3GNT5	84002	.	GRCh37	3	182990998	182990998	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	185	120	308	0	ENST00000326505.3:c.*2275A>T			ENST00000326505	NM_032047.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3244.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACACAGTG	NONE	.	.	.	.	.	ENSP00000316173	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326505	Transcript	.	.	ENSG00000176597	15684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GN5_HUMAN	B3GNT5	HGNC	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN	.	UPI000003D75E	SNV	B3GNT5,3_prime_UTR_variant,,ENST00000326505,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000414362,;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000481531,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,downstream_gene_variant,,ENST00000460419,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,downstream_gene_variant,,ENST00000465010,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;MCF2L2,downstream_gene_variant,,ENST00000475664,;	3942	308	306	SUCCESS
CFI	3426	.	GRCh37	4	110662035	110662035	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	7	98	0	ENST00000394634.2:c.*14C>G			ENST00000394634	NM_000204.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34049.1	.	MUTECT|MUSE	.	GAAGAGAGAGA	NONE	.	.	.	.	.	ENSP00000378130	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000394634	Transcript	1	.	ENSG00000205403	5394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CFAI_HUMAN	CFI	HGNC	Q6LAM0_HUMAN,D6R9Z8_HUMAN	.	UPI0000D615A9	SNV	CFI,3_prime_UTR_variant,,ENST00000394634,;CFI,3_prime_UTR_variant,,ENST00000512148,;CFI,3_prime_UTR_variant,,ENST00000394635,;CFI,non_coding_transcript_exon_variant,,ENST00000504853,;CFI,downstream_gene_variant,,ENST00000515512,;	1974	98	120	SUCCESS
PCDHB17	0	.	GRCh37	5	140537758	140537758	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	54	0	ENST00000539533.1:c.*418C>A			ENST00000539533				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	CTACTCGGTGC	NONE	.	.	.	.	.	ENSP00000438685	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000539533	Transcript	.	.	ENSG00000255622	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PCDHB17	Uniprot_gn	Q96T98_HUMAN	.	UPI000006CE19	SNV	PCDHB17,3_prime_UTR_variant,,ENST00000539533,;PCDHB6,downstream_gene_variant,,ENST00000231136,;	2182	54	61	SUCCESS
LRRC70	100130733	.	GRCh37	5	61877274	61877274	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	6	150	0	ENST00000334994.5:c.*140T>G			ENST00000334994	NM_181506.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47218.1	.	MUTECT|MUSE	.	AATAATTTGTG	NONE	.	.	.	.	.	ENSP00000399441	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000334994	Transcript	.	.	ENSG00000186105	35155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRR70_HUMAN	LRRC70	HGNC	.	.	UPI000004C632	SNV	LRRC70,3_prime_UTR_variant,,ENST00000334994,;IPO11,intron_variant,,ENST00000511713,;IPO11,intron_variant,,ENST00000409534,;IPO11,intron_variant,,ENST00000409296,;IPO11,intron_variant,,ENST00000325324,;LRRC70,downstream_gene_variant,,ENST00000491184,;IPO11,intron_variant,,ENST00000511133,;LRRC70,downstream_gene_variant,,ENST00000448151,;IPO11,3_prime_UTR_variant,,ENST00000413749,;IPO11,downstream_gene_variant,,ENST00000424533,;	2248	150	136	SUCCESS
HSPA1A	3303	.	GRCh37	6	31785702	31785702	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	24	74	0	ENST00000375651.5:c.*243A>G			ENST00000375651	NM_005345.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34414.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAAATAAAC	NONE	.	.	.	.	.	ENSP00000364802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375651	Transcript	.	.	ENSG00000204389	5232	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSP71_HUMAN	HSPA1A	HGNC	A8K5I0_HUMAN	.	UPI0000000C40	SNV	HSPA1A,3_prime_UTR_variant,,ENST00000375651,;HSPA1A,3_prime_UTR_variant,,ENST00000608703,;HSPA1L,upstream_gene_variant,,ENST00000417199,;HSPA1A,downstream_gene_variant,,ENST00000458062,;HSPA1L,upstream_gene_variant,,ENST00000375654,;	2412	74	90	SUCCESS
ANKRD7	56311	.	GRCh37	7	117864717	117864717	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1451153869	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	27	62	0				ENST00000265224	NM_019644.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43638.1	.	MUTECT|MUSE	.	ATAACGGCCGT	NONE	.	13	.	.	.	ENSP00000265224	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000265224	Transcript	.	.	ENSG00000106013	18588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKR7_HUMAN	ANKRD7	HGNC	Q9UPM1_HUMAN	.	UPI0000E826A8	SNV	ANKRD7,5_prime_UTR_variant,,ENST00000357099,;ANKRD7,upstream_gene_variant,,ENST00000433239,;ANKRD7,upstream_gene_variant,,ENST00000486422,;ANKRD7,upstream_gene_variant,,ENST00000417525,;ANKRD7,upstream_gene_variant,,ENST00000265224,;ANKRD7,intron_variant,,ENST00000477532,;	.	62	80	SUCCESS
TOR2A	27433	.	GRCh37	9	130494166	130494176	+	3_prime_UTR_variant	3'UTR	DEL	AGGCCAGGGCC	AGGCCAGGGCC	GCT	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	AGGCCAGGGCC	AGGCCAGGGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	53	0	ENST00000373284.5:c.*137_*147delinsAGC			ENST00000373284	NM_001085347.2			0	.	.	.	.	.	GCT	.	protein_coding	YES	CCDS43879.1	.	INDELOCATOR*|PINDEL	.	GTTTAGAGGCCAGGGCCCTTCC	NONE	.	.	.	.	.	ENSP00000362381	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000373284	Transcript	.	.	ENSG00000160404	11996	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOR2A_HUMAN	TOR2A	HGNC	.	.	UPI00004A3A6C	substitution	TOR2A,3_prime_UTR_variant,,ENST00000336067,;TOR2A,3_prime_UTR_variant,,ENST00000458505,;TOR2A,3_prime_UTR_variant,,ENST00000373281,;TOR2A,3_prime_UTR_variant,,ENST00000373284,;TTC16,downstream_gene_variant,,ENST00000373289,;TOR2A,non_coding_transcript_exon_variant,,ENST00000463256,;TOR2A,non_coding_transcript_exon_variant,,ENST00000496460,;TOR2A,non_coding_transcript_exon_variant,,ENST00000472723,;TOR2A,non_coding_transcript_exon_variant,,ENST00000463577,;TOR2A,downstream_gene_variant,,ENST00000494135,;TTC16,downstream_gene_variant,,ENST00000488285,;TOR2A,downstream_gene_variant,,ENST00000493439,;TTC16,downstream_gene_variant,,ENST00000489226,;	1150-1160	53	66	SUCCESS
ANKRD18A	253650	.	GRCh37	9	38571955	38571955	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs774482050	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	219	7	248	0	ENST00000399703.5:c.*87G>T			ENST00000399703	NM_147195.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55311.1	.	MUTECT|MUSE	.	TACAACTTTTC	NONE	byFrequency	.	.	.	.	ENSP00000382610	.	16/16	.	.	.	.	.	.	.	.	rs774482050	16/16	PASS	ENST00000399703	Transcript	.	.	ENSG00000180071	23643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AN18A_HUMAN	ANKRD18A	HGNC	.	.	UPI00001AF4AF	SNV	ANKRD18A,3_prime_UTR_variant,,ENST00000399703,;ANKRD18A,3_prime_UTR_variant,,ENST00000602295,;ANKRD18A,intron_variant,,ENST00000607974,;ANKRD18A,intron_variant,,ENST00000313339,;ANKRD18A,intron_variant,,ENST00000357072,;SNX18P3,upstream_gene_variant,,ENST00000565670,;RP11-392E22.11,upstream_gene_variant,,ENST00000567428,;ANKRD18A,intron_variant,,ENST00000564591,;ANKRD18A,intron_variant,,ENST00000566717,;SNX18P3,upstream_gene_variant,,ENST00000424993,;	3441	248	226	SUCCESS
TEX13B	56156	.	GRCh37	X	107224277	107224277	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	6	70	0	ENST00000302917.1:c.*33G>T			ENST00000302917	NM_031273.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14534.1	.	MUTECT|MUSE	.	CTATTCCCTGG	NONE	.	.	.	.	.	ENSP00000303777	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302917	Transcript	.	.	ENSG00000170925	11736	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TX13B_HUMAN	TEX13B	HGNC	.	.	UPI0000042206	SNV	TEX13B,3_prime_UTR_variant,,ENST00000302917,;	1065	70	84	SUCCESS
CITED1	4435	.	GRCh37	X	71521551	71521551	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADG-01	TCGA-DD-AADG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	80	0	ENST00000246139.5:c.*22G>A			ENST00000246139	NM_004143.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48136.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCCTCCATCT	NONE	.	.	.	.	.	ENSP00000401764	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000453707	Transcript	.	.	ENSG00000125931	1986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CITE1_HUMAN	CITED1	HGNC	C9JRD8_HUMAN,C9J7P8_HUMAN,C9J300_HUMAN,C9J1P6_HUMAN	.	UPI0000212358	SNV	CITED1,3_prime_UTR_variant,,ENST00000246139,;CITED1,3_prime_UTR_variant,,ENST00000373619,;CITED1,3_prime_UTR_variant,,ENST00000431381,;CITED1,3_prime_UTR_variant,,ENST00000453707,;CITED1,3_prime_UTR_variant,,ENST00000429794,;CITED1,3_prime_UTR_variant,,ENST00000445983,;CITED1,downstream_gene_variant,,ENST00000454225,;CITED1,downstream_gene_variant,,ENST00000427412,;CITED1,downstream_gene_variant,,ENST00000450875,;CITED1,downstream_gene_variant,,ENST00000417400,;PIN4,intron_variant,,ENST00000439980,;	935	80	79	SUCCESS
RCN1	5954	.	GRCh37	11	32126688	32126688	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	278	18	219	0	ENST00000054950.3:c.*670G>T			ENST00000054950	NM_002901.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7876.1	.	MUTECT|MUSE	.	TTAGAGGTAGG	NONE	.	.	.	.	.	ENSP00000054950	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000054950	Transcript	.	.	ENSG00000049449	9934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RCN1_HUMAN	RCN1	HGNC	Q5J7V8_HUMAN,H0YDA4_HUMAN,E9PP27_HUMAN,E9PLM2_HUMAN	.	UPI0000000CA7	SNV	RCN1,3_prime_UTR_variant,,ENST00000054950,;RCN1,intron_variant,,ENST00000528630,;RCN1,downstream_gene_variant,,ENST00000530348,;RCN1,downstream_gene_variant,,ENST00000532942,;RP1-65P5.3,upstream_gene_variant,,ENST00000533009,;RCN1,downstream_gene_variant,,ENST00000532474,;RCN1,non_coding_transcript_exon_variant,,ENST00000533898,;RCN1,non_coding_transcript_exon_variant,,ENST00000531345,;RCN1,downstream_gene_variant,,ENST00000527337,;	1959	219	296	SUCCESS
C12orf57	113246	.	GRCh37	12	7055092	7055092	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1555146567	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	27	0	ENST00000229281.5:c.*7G>T			ENST00000229281	NM_138425.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8571.1	.	MUTECT|MUSE	.	AGTTGGCCCTC	NONE	.	.	.	.	.	ENSP00000229281	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000229281	Transcript	.	.	ENSG00000111678	29521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C10_HUMAN	C12orf57	HGNC	U3KQ85_HUMAN	.	UPI0000126B9B	SNV	C12orf57,3_prime_UTR_variant,,ENST00000229281,;C12orf57,3_prime_UTR_variant,,ENST00000537087,;C12orf57,3_prime_UTR_variant,,ENST00000540506,;C12orf57,downstream_gene_variant,,ENST00000544681,;PTPN6,upstream_gene_variant,,ENST00000447931,;ATN1,downstream_gene_variant,,ENST00000356654,;ATN1,downstream_gene_variant,,ENST00000396684,;C12orf57,downstream_gene_variant,,ENST00000545581,;PTPN6,upstream_gene_variant,,ENST00000543115,;PTPN6,upstream_gene_variant,,ENST00000399448,;RNU7-1,downstream_gene_variant,,ENST00000458811,;U47924.31,upstream_gene_variant,,ENST00000607421,;C12orf57,non_coding_transcript_exon_variant,,ENST00000542222,;PTPN6,upstream_gene_variant,,ENST00000534900,;PTPN6,upstream_gene_variant,,ENST00000543120,;C12orf57,downstream_gene_variant,,ENST00000538392,;ATN1,downstream_gene_variant,,ENST00000537488,;PTPN6,upstream_gene_variant,,ENST00000542848,;PTPN6,upstream_gene_variant,,ENST00000538318,;	487	27	32	SUCCESS
FLRT2	23768	.	GRCh37	14	86090032	86090032	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	131	30	148	1	ENST00000330753.4:c.*191G>T			ENST00000330753	NM_013231.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCAAGTTAAT	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,3_prime_UTR_variant,,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	2941	149	161	SUCCESS
ZNF493	284443	.	GRCh37	19	21608837	21608837	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	233	8	182	0	ENST00000355504.4:c.*1051G>T			ENST00000355504	NM_175910.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42536.1	.	MUTECT|MUSE	.	AATATGGCAAA	NONE	.	.	.	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	SNV	ZNF493,3_prime_UTR_variant,,ENST00000355504,;ZNF493,3_prime_UTR_variant,,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	3485	182	241	SUCCESS
NOTCH2NL	0	.	GRCh37	1	145282046	145282046	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs782149998	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	479	35	258	1	ENST00000369340.3:c.*15G>T			ENST00000369340				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS909.1	.	MUTECT|MUSE	.	AATATGTATGT	NONE	.	.	.	.	.	ENSP00000358346	.	6/6	.	.	.	.	.	.	.	.	rs782149998	6/6	PASS	ENST00000369340	Transcript	.	.	ENSG00000213240	31862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NT2NL_HUMAN	NOTCH2NL	HGNC	.	.	UPI00001A9982	SNV	NOTCH2NL,3_prime_UTR_variant,,ENST00000369340,;NOTCH2NL,3_prime_UTR_variant,,ENST00000362074,;NOTCH2NL,intron_variant,,ENST00000344859,;RP11-458D21.5,intron_variant,,ENST00000468030,;	1170	259	514	SUCCESS
NKAIN1	79570	.	GRCh37	1	31654466	31654466	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	55	127	0	ENST00000373736.2:c.*84C>A			ENST00000373736	NM_024522.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS339.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGGGGGAC	NONE	.	.	.	.	.	ENSP00000362841	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373736	Transcript	.	.	ENSG00000084628	25743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NKAI1_HUMAN	NKAIN1	HGNC	R4GNE2_HUMAN	.	UPI000004A116	SNV	NKAIN1,3_prime_UTR_variant,,ENST00000398657,;NKAIN1,3_prime_UTR_variant,,ENST00000526106,;NKAIN1,3_prime_UTR_variant,,ENST00000373736,;NKAIN1,3_prime_UTR_variant,,ENST00000263693,;NKAIN1,downstream_gene_variant,,ENST00000530145,;NKAIN1,non_coding_transcript_exon_variant,,ENST00000528449,;NKAIN1,downstream_gene_variant,,ENST00000533581,;	715	127	113	SUCCESS
KBTBD11	9920	.	GRCh37	8	1953658	1953658	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	42	111	0	ENST00000320248.3:c.*2428C>T			ENST00000320248	NM_014867.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34795.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CACACCCTCCA	NONE	.	.	.	.	.	ENSP00000321544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320248	Transcript	.	.	ENSG00000176595	29104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KBTBB_HUMAN	KBTBD11	HGNC	.	.	UPI0000139C1D	SNV	KBTBD11,3_prime_UTR_variant,,ENST00000320248,;	5266	111	102	SUCCESS
ZBTB43	23099	.	GRCh37	9	129599962	129599962	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	106	40	121	0				ENST00000373457				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6867.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTGCTTTAG	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000373457,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,downstream_gene_variant,,ENST00000497064,;	5438	121	146	SUCCESS
SEPT6	0	.	GRCh37	X	118752495	118752495	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1433294124	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	10	41	0	ENST00000343984.5:c.*230T>C			ENST00000343984	NM_015129.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14584.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAAAAAAAGA	NONE	.	.	.	.	.	ENSP00000341524	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000343984	Transcript	.	.	ENSG00000125354	15848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPT6_HUMAN	SEPT6	HGNC	Q541S4_HUMAN	.	UPI0000001C54	SNV	SEPT6,3_prime_UTR_variant,,ENST00000394610,;SEPT6,3_prime_UTR_variant,,ENST00000343984,;SEPT6,3_prime_UTR_variant,,ENST00000354416,;SEPT6,intron_variant,,ENST00000489216,;SEPT6,intron_variant,,ENST00000354228,;SEPT6,intron_variant,,ENST00000360156,;SEPT6,downstream_gene_variant,,ENST00000467310,;SEPT6,intron_variant,,ENST00000460411,;	1800	41	45	SUCCESS
SMIM10	644538	.	GRCh37	X	134125479	134125479	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1392285841	.	TCGA-DD-AADI-01	TCGA-DD-AADI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	297	137	320	0	ENST00000330288.4:c.*102A>G			ENST00000330288	NM_001163438.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55502.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGCATGCAG	NONE	.	.	.	.	.	ENSP00000328335	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330288	Transcript	.	.	ENSG00000184785	41913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIM10_HUMAN	SMIM10	HGNC	.	.	UPI00003FCD5A	SNV	SMIM10,3_prime_UTR_variant,,ENST00000330288,;	512	320	434	SUCCESS
ZSCAN2	54993	.	GRCh37	15	85165910	85165910	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	43	0	ENST00000448803.2:c.*639C>T			ENST00000448803	NM_181877.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10329.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTACAGCCT	NONE	.	.	.	.	.	ENSP00000410198	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000448803	Transcript	.	.	ENSG00000176371	20994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZSCA2_HUMAN	ZSCAN2	HGNC	F8W6Y9_HUMAN,F5H789_HUMAN,F5H2D8_HUMAN,F5H1K4_HUMAN	.	UPI000021D4BC	SNV	ZSCAN2,stop_gained,p.Gln227Ter,ENST00000538076,;ZSCAN2,3_prime_UTR_variant,,ENST00000448803,;ZSCAN2,3_prime_UTR_variant,,ENST00000358472,;ZSCAN2,3_prime_UTR_variant,,ENST00000485222,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,downstream_gene_variant,,ENST00000546148,;ZSCAN2,downstream_gene_variant,,ENST00000540936,;ZSCAN2,downstream_gene_variant,,ENST00000327179,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,3_prime_UTR_variant,,ENST00000540894,;	2776	43	41	SUCCESS
SEPHS2	22928	.	GRCh37	16	30455651	30455651	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	28	57	0				ENST00000500504				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42150.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATCCGTGAT	NONE	.	51	.	.	.	ENSP00000426234	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000500504	Transcript	.	.	ENSG00000179918	19686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPS2_HUMAN	SEPHS2	HGNC	B4E093_HUMAN	.	UPI00001678A0	SNV	SEPHS2,synonymous_variant,p.%3D,ENST00000478753,;SEPHS2,3_prime_UTR_variant,,ENST00000542752,;SEPHS2,downstream_gene_variant,,ENST00000500504,;	.	57	36	SUCCESS
HN1	0	.	GRCh37	17	73132073	73132073	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1273646092	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	17	66	1	ENST00000356033.4:c.*24G>T			ENST00000356033	NM_001002032.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32729.1	.	SOMATICSNIPER|VARSCANS	.	AAAGACAGCAG	NONE	.	.	.	.	.	ENSP00000348316	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356033	Transcript	.	.	ENSG00000189159	14569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HN1_HUMAN	HN1	HGNC	.	.	UPI00001B2206	SNV	HN1,3_prime_UTR_variant,,ENST00000482348,;HN1,3_prime_UTR_variant,,ENST00000405458,;HN1,3_prime_UTR_variant,,ENST00000356033,;HN1,3_prime_UTR_variant,,ENST00000476258,;HN1,3_prime_UTR_variant,,ENST00000409753,;HN1,3_prime_UTR_variant,,ENST00000470924,;NT5C,upstream_gene_variant,,ENST00000578337,;HN1,downstream_gene_variant,,ENST00000392566,;NT5C,upstream_gene_variant,,ENST00000582170,;HN1,downstream_gene_variant,,ENST00000580380,;NT5C,upstream_gene_variant,,ENST00000580423,;NT5C,upstream_gene_variant,,ENST00000245552,;NT5C,upstream_gene_variant,,ENST00000578407,;HN1,downstream_gene_variant,,ENST00000481647,;HN1,downstream_gene_variant,,ENST00000581874,;NT5C,upstream_gene_variant,,ENST00000582160,;RP11-649A18.5,downstream_gene_variant,,ENST00000584339,;NT5C,upstream_gene_variant,,ENST00000579082,;HN1,3_prime_UTR_variant,,ENST00000304834,;NT5C,upstream_gene_variant,,ENST00000578095,;NT5C,upstream_gene_variant,,ENST00000580758,;HN1,downstream_gene_variant,,ENST00000481094,;NT5C,upstream_gene_variant,,ENST00000583655,;NT5C,upstream_gene_variant,,ENST00000577523,;NT5C,upstream_gene_variant,,ENST00000582744,;NT5C,upstream_gene_variant,,ENST00000584352,;NT5C,upstream_gene_variant,,ENST00000579023,;	848	67	97	SUCCESS
ZNF404	342908	.	GRCh37	19	44376589	44376589	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs746825436	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	22	0	ENST00000587539.1:c.*118C>T			ENST00000587539	NM_001033719.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59394.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACGATGTG	NONE	.	.	.	.	.	ENSP00000466051	.	3/3	.	.	.	.	.	.	.	.	rs746825436	3/3	PASS	ENST00000587539	Transcript	.	.	ENSG00000176222	19417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF404	HGNC	Q86WM5_HUMAN,K7ELF2_HUMAN	.	UPI00001D8172	SNV	ZNF404,3_prime_UTR_variant,,ENST00000324394,;ZNF404,3_prime_UTR_variant,,ENST00000587539,;	1777	22	37	SUCCESS
TGM3	7053	.	GRCh37	20	2321247	2321247	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs369770171	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	36	66	0	ENST00000381458.5:c.*20G>A			ENST00000381458	NM_003245.3			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS33435.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCGTACAA	NONE	byCluster	.	.	.	A:0	ENSP00000370867	.	13/13	.	.	.	.	.	.	.	.	rs369770171	13/13	PASS	ENST00000381458	Transcript	.	.	ENSG00000125780	11779	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TGM3_HUMAN	TGM3	HGNC	.	.	UPI0000136CCC	SNV	TGM3,3_prime_UTR_variant,,ENST00000381458,;	2165	66	86	SUCCESS
SLC25A1	6576	.	GRCh37	22	19163611	19163611	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs782032507	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	28	0	ENST00000215882.5:c.*32G>T			ENST00000215882	NM_005984.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13758.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTGCCTGGG	NONE	.	.	.	.	.	ENSP00000215882	.	9/9	.	.	.	.	.	.	.	.	rs782032507	9/9	PASS	ENST00000215882	Transcript	.	.	ENSG00000100075	10979	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXTP_HUMAN	SLC25A1	HGNC	B4DP62_HUMAN	.	UPI0000137851	SNV	SLC25A1,3_prime_UTR_variant,,ENST00000215882,;SLC25A1,3_prime_UTR_variant,,ENST00000451283,;CLTCL1,downstream_gene_variant,,ENST00000427926,;CLTCL1,downstream_gene_variant,,ENST00000353891,;CLTCL1,downstream_gene_variant,,ENST00000263200,;AC004463.6,downstream_gene_variant,,ENST00000565162,;SLC25A1,downstream_gene_variant,,ENST00000461267,;CLTCL1,downstream_gene_variant,,ENST00000536806,;CLTCL1,downstream_gene_variant,,ENST00000442042,;SLC25A1,downstream_gene_variant,,ENST00000468824,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000470922,;CLTCL1,downstream_gene_variant,,ENST00000413132,;CLTCL1,downstream_gene_variant,,ENST00000505027,;CLTCL1,downstream_gene_variant,,ENST00000412649,;	1125	28	26	SUCCESS
KCNJ3	3760	.	GRCh37	2	155711889	155711889	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	108	0	ENST00000295101.2:c.*64G>A			ENST00000295101	NM_002239.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2200.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGAGGTAAT	NONE	.	.	.	.	.	ENSP00000295101	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295101	Transcript	.	.	ENSG00000162989	6264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK3_HUMAN	KCNJ3	HGNC	Q53R59_HUMAN	.	UPI000012D899	SNV	KCNJ3,3_prime_UTR_variant,,ENST00000295101,;KCNJ3,downstream_gene_variant,,ENST00000544049,;KCNJ3,downstream_gene_variant,,ENST00000493505,;	2047	108	115	SUCCESS
GAPT	202309	.	GRCh37	5	57791392	57791392	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs146553533	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	40	0	ENST00000318469.2:c.*555G>A			ENST00000318469				0	.	A:0.0008	.	A:0.0029	.	A	.	protein_coding	YES	CCDS3975.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCGCTGTG	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000379997	A:0.008	3/3	.	.	.	.	.	.	.	.	rs146553533	3/3	PASS	ENST00000396776	Transcript	.	A:0.0026	ENSG00000175857	26588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.002	.	.	GAPT_HUMAN	GAPT	HGNC	D6RBK7_HUMAN,D6RA63_HUMAN	.	UPI0000039EFF	SNV	GAPT,3_prime_UTR_variant,,ENST00000396776,;GAPT,3_prime_UTR_variant,,ENST00000318469,;GAPT,downstream_gene_variant,,ENST00000502276,;GAPT,downstream_gene_variant,,ENST00000511930,;GAPT,intron_variant,,ENST00000511178,;GAPT,downstream_gene_variant,,ENST00000515443,;GAPT,downstream_gene_variant,,ENST00000513924,;	1491	40	41	SUCCESS
FAM220A	84792	.	GRCh37	7	6369342	6369342	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	39	0	ENST00000313324.4:c.*664G>T			ENST00000313324	NM_001037163.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34599.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCTCTGT	NONE	.	.	.	.	.	ENSP00000317289	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313324	Transcript	.	.	ENSG00000178397	22422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F220A_HUMAN	FAM220A	HGNC	E9PQY0_HUMAN,E9PQC6_HUMAN	.	UPI000013F4F0	SNV	FAM220A,3_prime_UTR_variant,,ENST00000313324,;FAM220A,downstream_gene_variant,,ENST00000524898,;FAM220A,downstream_gene_variant,,ENST00000578372,;FAM220A,downstream_gene_variant,,ENST00000530143,;FAM220A,downstream_gene_variant,,ENST00000533877,;	1912	39	48	SUCCESS
PEG10	23089	.	GRCh37	7	94297113	94297113	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADJ-01	TCGA-DD-AADJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	118	75	178	0	ENST00000482108.1:c.*3267G>A			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55126.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTGGCTATT	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	4724	178	193	SUCCESS
FIBIN	387758	.	GRCh37	11	27018205	27018205	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	24	135	0	ENST00000318627.2:c.*1496T>A			ENST00000318627	NM_203371.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7861.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCTGTTCA	NONE	.	.	.	.	.	ENSP00000321962	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318627	Transcript	.	.	ENSG00000176971	33747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIBIN_HUMAN	FIBIN	HGNC	.	.	UPI000003B0F4	SNV	FIBIN,3_prime_UTR_variant,,ENST00000318627,;	2578	135	144	SUCCESS
ARL11	115761	.	GRCh37	13	50207062	50207062	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	47	0	ENST00000282026.1:c.*1888A>G			ENST00000282026	NM_138450.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9419.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCATAAAAAT	NONE	.	.	.	.	.	ENSP00000282026	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282026	Transcript	.	.	ENSG00000152213	24046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL11_HUMAN	ARL11	HGNC	.	.	UPI0000073EDE	SNV	ARL11,3_prime_UTR_variant,,ENST00000282026,;ARL11,downstream_gene_variant,,ENST00000490932,;	2814	47	46	SUCCESS
NTRK3	4916	.	GRCh37	15	88420059	88420059	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	51	0	ENST00000360948.2:c.*107T>C			ENST00000360948	NM_001012338.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32322.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGAAGATG	NONE	.	.	.	.	.	ENSP00000354207	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000360948	Transcript	1	.	ENSG00000140538	8033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NTRK3_HUMAN	NTRK3	HGNC	R4GNH5_HUMAN	.	UPI000006DC82	SNV	NTRK3,3_prime_UTR_variant,,ENST00000357724,;NTRK3,3_prime_UTR_variant,,ENST00000557856,;NTRK3,3_prime_UTR_variant,,ENST00000394480,;NTRK3,3_prime_UTR_variant,,ENST00000355254,;NTRK3,3_prime_UTR_variant,,ENST00000360948,;	2789	51	43	SUCCESS
INSM1	3642	.	GRCh37	20	20351356	20351356	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	24	102	0	ENST00000310227.1:c.*912G>C			ENST00000310227	NM_002196.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13143.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGGATCT	NONE	.	.	.	.	.	ENSP00000312631	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310227	Transcript	.	.	ENSG00000173404	6090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM1_HUMAN	INSM1	HGNC	.	.	UPI0000046C2F	SNV	INSM1,3_prime_UTR_variant,,ENST00000310227,;	2592	102	91	SUCCESS
GDF7	151449	.	GRCh37	2	20871186	20871186	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs758548339	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	4	108	0	ENST00000272224.3:c.*1C>T			ENST00000272224	NM_182828.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1701.1	.	MUTECT|MUSE	.	GGTAGCGCGAG	NONE	.	.	.	.	.	ENSP00000272224	.	2/2	.	.	.	.	.	.	.	.	rs758548339	2/2	PASS	ENST00000272224	Transcript	.	.	ENSG00000143869	4222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GDF7_HUMAN	GDF7	HGNC	Q75RY1_HUMAN	.	UPI0000208B29	SNV	GDF7,3_prime_UTR_variant,,ENST00000272224,;	1930	108	91	SUCCESS
PTMA	5757	.	GRCh37	2	232577602	232577602	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs758287487	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	42	1	ENST00000341369.7:c.*41G>A			ENST00000341369	NM_001099285.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42833.1	.	MUTECT|MUSE	.	AGGCCGCCGTG	NONE	byFrequency	.	.	.	.	ENSP00000344547	.	5/5	.	.	.	.	.	.	.	.	rs758287487	5/5	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,3_prime_UTR_variant,,ENST00000341369,;PTMA,3_prime_UTR_variant,,ENST00000412128,;PTMA,3_prime_UTR_variant,,ENST00000409115,;PTMA,3_prime_UTR_variant,,ENST00000409321,;PTMA,3_prime_UTR_variant,,ENST00000409683,;PTMA,downstream_gene_variant,,ENST00000410064,;PTMA,downstream_gene_variant,,ENST00000440384,;PTMA,non_coding_transcript_exon_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;	568	43	43	SUCCESS
ZNF92	168374	.	GRCh37	7	64864806	64864806	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	11	68	0	ENST00000328747.7:c.*18T>G			ENST00000328747	NM_152626.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34646.1	.	RADIA|MUTECT|MUSE	.	TGATTTTCACT	NONE	.	.	.	.	.	ENSP00000332595	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000328747	Transcript	.	.	ENSG00000146757	13168	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF92_HUMAN	ZNF92	HGNC	C9IZS8_HUMAN	.	UPI0000073CE6	SNV	ZNF92,3_prime_UTR_variant,,ENST00000450302,;ZNF92,3_prime_UTR_variant,,ENST00000431504,;ZNF92,3_prime_UTR_variant,,ENST00000357512,;ZNF92,3_prime_UTR_variant,,ENST00000328747,;	1978	68	64	SUCCESS
PTP4A3	11156	.	GRCh37	8	142446122	142446122	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AADK-01	TCGA-DD-AADK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	32	81	0				ENST00000329397				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6383.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCAGGTCC	NONE	.	4728	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,non_coding_transcript_exon_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,missense_variant,p.Leu1149Gln,ENST00000430863,;	.	81	71	SUCCESS
TRIM48	79097	.	GRCh37	11	55038154	55038154	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	229	66	241	0	ENST00000417545.2:c.*243G>T			ENST00000417545	NM_024114.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7947.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCAGAATGG	NONE	.	.	.	.	.	ENSP00000402414	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000417545	Transcript	.	.	ENSG00000150244	19021	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI48_HUMAN	TRIM48	HGNC	.	.	UPI0000374413	SNV	TRIM48,3_prime_UTR_variant,,ENST00000417545,;RP11-72M10.2,downstream_gene_variant,,ENST00000526762,;	1004	241	295	SUCCESS
TMBIM4	51643	.	GRCh37	12	66531658	66531658	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs904205884	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	33	0	ENST00000358230.3:c.*82T>C			ENST00000358230	NM_016056.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41805.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTCTATATAC	NONE	.	.	.	.	.	ENSP00000350965	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000358230	Transcript	.	.	ENSG00000155957	24257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LFG4_HUMAN	TMBIM4	HGNC	G3V1R8_HUMAN	.	UPI00001FC6E2	SNV	TMBIM4,3_prime_UTR_variant,,ENST00000542724,;TMBIM4,3_prime_UTR_variant,,ENST00000544599,;TMBIM4,3_prime_UTR_variant,,ENST00000358230,;TMBIM4,3_prime_UTR_variant,,ENST00000398033,;TMBIM4,3_prime_UTR_variant,,ENST00000286424,;TMBIM4,intron_variant,,ENST00000556010,;RP11-745O10.2,downstream_gene_variant,,ENST00000510317,;TMBIM4,3_prime_UTR_variant,,ENST00000545407,;TMBIM4,non_coding_transcript_exon_variant,,ENST00000538217,;TMBIM4,intron_variant,,ENST00000539652,;TMBIM4,downstream_gene_variant,,ENST00000545504,;TMBIM4,downstream_gene_variant,,ENST00000534930,;	920	33	34	SUCCESS
FLRT2	23768	.	GRCh37	14	86094241	86094241	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	32	63	0	ENST00000330753.4:c.*4400T>A			ENST00000330753	NM_013231.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATTCAGTA	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,downstream_gene_variant,,ENST00000553650,;	7150	63	56	SUCCESS
LRRC49	54839	.	GRCh37	15	71341955	71341955	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	31	68	0	ENST00000260382.5:c.*4T>C			ENST00000260382	NM_001199017.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58376.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAATGGCCT	NONE	.	.	.	.	.	ENSP00000453273	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000560369	Transcript	.	.	ENSG00000137821	25965	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC49_HUMAN	LRRC49	HGNC	H0YNV5_HUMAN,H0YNI5_HUMAN,H0YLQ8_HUMAN,H0YKI5_HUMAN,H0YKE9_HUMAN	.	UPI0001E92A32	SNV	LRRC49,3_prime_UTR_variant,,ENST00000260382,;LRRC49,3_prime_UTR_variant,,ENST00000544974,;LRRC49,3_prime_UTR_variant,,ENST00000560158,;LRRC49,3_prime_UTR_variant,,ENST00000443425,;LRRC49,3_prime_UTR_variant,,ENST00000560369,;LRRC49,3_prime_UTR_variant,,ENST00000560691,;LRRC49,non_coding_transcript_exon_variant,,ENST00000561131,;LRRC49,non_coding_transcript_exon_variant,,ENST00000436542,;LRRC49,3_prime_UTR_variant,,ENST00000560107,;LRRC49,3_prime_UTR_variant,,ENST00000561081,;	2349	68	78	SUCCESS
CD209	30835	.	GRCh37	19	7806112	7806112	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs909393873	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	13	0	ENST00000315599.7:c.*1813G>A			ENST00000315599	NM_021155.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12186.1	.	MUTECT|MUSE	.	CAGCACTTTGG	NONE	.	.	.	.	.	ENSP00000315477	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000315599	Transcript	1	.	ENSG00000090659	1641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD209_HUMAN	CD209	HGNC	B4E2A8_HUMAN	.	UPI000003422C	SNV	CD209,3_prime_UTR_variant,,ENST00000301357,;CD209,3_prime_UTR_variant,,ENST00000315599,;CD209,downstream_gene_variant,,ENST00000315591,;CD209,downstream_gene_variant,,ENST00000593660,;CD209,downstream_gene_variant,,ENST00000601256,;CD209,downstream_gene_variant,,ENST00000204801,;CD209,downstream_gene_variant,,ENST00000394161,;CD209,downstream_gene_variant,,ENST00000394173,;CD209,downstream_gene_variant,,ENST00000354397,;CD209,downstream_gene_variant,,ENST00000602261,;CD209,downstream_gene_variant,,ENST00000601951,;CD209,downstream_gene_variant,,ENST00000593821,;	3051	13	47	SUCCESS
KPRP	448834	.	GRCh37	1	152733917	152733917	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	49	112	0	ENST00000606109.1:c.*113C>T			ENST00000606109				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30862.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCCTATTA	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,3_prime_UTR_variant,,ENST00000368773,;KPRP,3_prime_UTR_variant,,ENST00000606109,;	1911	112	137	SUCCESS
LRRC8D	55144	.	GRCh37	1	90401939	90401939	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	26	32	0	ENST00000337338.5:c.*735G>T			ENST00000337338	NM_001134479.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS726.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATAGGGTTGC	NONE	.	.	.	.	.	ENSP00000338887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337338	Transcript	.	.	ENSG00000171492	16992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC8D_HUMAN	LRRC8D	HGNC	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN	.	UPI00001BBFBA	SNV	LRRC8D,3_prime_UTR_variant,,ENST00000337338,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000394593,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000414841,;RP11-302M6.5,upstream_gene_variant,,ENST00000608671,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	3719	32	61	SUCCESS
PCDHB7	56129	.	GRCh37	5	140555954	140555954	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	55	0	ENST00000231137.3:c.*1156A>C			ENST00000231137	NM_018940.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4249.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAAGCACT	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	3712	55	82	SUCCESS
KIAA0196	0	.	GRCh37	8	126036838	126036838	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	247	234	296	0	ENST00000318410.7:c.*21A>C			ENST00000318410	NM_014846.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6355.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATTGAAG	NONE	.	.	.	.	.	ENSP00000318016	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000318410	Transcript	1	.	ENSG00000164961	28984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STRUM_HUMAN	KIAA0196	HGNC	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN	.	UPI000013943B	SNV	KIAA0196,3_prime_UTR_variant,,ENST00000517845,;KIAA0196,3_prime_UTR_variant,,ENST00000318410,;SQLE,downstream_gene_variant,,ENST00000518931,;SQLE,downstream_gene_variant,,ENST00000265896,;SQLE,downstream_gene_variant,,ENST00000523430,;KIAA0196,non_coding_transcript_exon_variant,,ENST00000519042,;	3851	296	482	SUCCESS
CLN8	2055	.	GRCh37	8	1728755	1728755	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs747671872	.	TCGA-DD-AADL-01	TCGA-DD-AADL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	26	59	0	ENST00000331222.4:c.*22G>A			ENST00000331222	NM_018941.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5956.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCGGGGCGGC	NONE	byFrequency	.	.	.	.	ENSP00000328182	.	3/3	.	.	.	.	.	.	.	.	rs747671872	3/3	PASS	ENST00000331222	Transcript	1	.	ENSG00000182372	2079	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLN8_HUMAN	CLN8	HGNC	.	.	UPI0000169EAA	SNV	CLN8,3_prime_UTR_variant,,ENST00000331222,;CLN8,non_coding_transcript_exon_variant,,ENST00000523237,;CLN8,non_coding_transcript_exon_variant,,ENST00000519254,;	1130	59	57	SUCCESS
RSU1	6251	.	GRCh37	10	16635189	16635189	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	13	0	ENST00000345264.5:c.*204A>T			ENST00000345264	NM_012425.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7112.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATGGAAA	NONE	.	.	.	.	.	ENSP00000367154	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000377921	Transcript	.	.	ENSG00000148484	10464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSU1_HUMAN	RSU1	HGNC	.	.	UPI0000000C72	SNV	RSU1,3_prime_UTR_variant,,ENST00000377921,;RSU1,3_prime_UTR_variant,,ENST00000602389,;RSU1,3_prime_UTR_variant,,ENST00000345264,;RSU1,non_coding_transcript_exon_variant,,ENST00000464074,;RSU1,downstream_gene_variant,,ENST00000377911,;	1340	13	16	SUCCESS
ASCL2	430	.	GRCh37	11	2290974	2290974	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	40	133	0	ENST00000331289.4:c.*7T>C			ENST00000331289	NM_005170.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7732.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCGAGGGCG	NONE	.	.	.	.	.	ENSP00000332293	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331289	Transcript	.	.	ENSG00000183734	739	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASCL2_HUMAN	ASCL2	HGNC	.	.	UPI0000041179	SNV	ASCL2,3_prime_UTR_variant,,ENST00000331289,;	1209	133	127	SUCCESS
CDKN1C	1028	.	GRCh37	11	2904845	2904846	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs996694809	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	14	0	ENST00000414822.3:c.*305dup			ENST00000414822	NM_000076.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7738.1	.	INDELOCATOR|VARSCANI	.	TTTTCCTTTTT	NONE	.	.	.	.	.	ENSP00000413720	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000414822	Transcript	.	.	ENSG00000129757	1786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDN1C_HUMAN	CDKN1C	HGNC	.	.	UPI0000127442	insertion	CDKN1C,3_prime_UTR_variant,,ENST00000380725,;CDKN1C,3_prime_UTR_variant,,ENST00000440480,;CDKN1C,3_prime_UTR_variant,,ENST00000414822,;CDKN1C,3_prime_UTR_variant,,ENST00000430149,;CDKN1C,3_prime_UTR_variant,,ENST00000313407,;SLC22A18AS,downstream_gene_variant,,ENST00000533594,;SLC22A18AS,downstream_gene_variant,,ENST00000526203,;SLC22A18AS,downstream_gene_variant,,ENST00000455942,;CDKN1C,downstream_gene_variant,,ENST00000471157,;	1648-1649	14	14	SUCCESS
PTGDR2	11251	.	GRCh37	11	60619888	60619888	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	21	0	ENST00000332539.4:c.*120T>A			ENST00000332539	NM_004778.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7994.1	.	MUTECT|MUSE	.	AATGCAGGTGC	NONE	.	.	.	.	.	ENSP00000332812	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332539	Transcript	.	.	ENSG00000183134	4502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PD2R2_HUMAN	PTGDR2	HGNC	.	.	UPI00001B011A	SNV	PTGDR2,3_prime_UTR_variant,,ENST00000332539,;CCDC86,downstream_gene_variant,,ENST00000227520,;CCDC86,downstream_gene_variant,,ENST00000545580,;RP11-804A23.4,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;	1420	21	13	SUCCESS
EIF3F	8665	.	GRCh37	11	8017613	8017613	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	49	0	ENST00000309828.4:c.*44A>T			ENST00000309828	NM_003754.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7785.1	.	MUTECT|MUSE	.	ACCCCAGGACT	NONE	.	.	.	.	.	ENSP00000431800	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000533626	Transcript	.	.	ENSG00000175390	3275	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EIF3F_HUMAN	EIF3F	HGNC	B4DEW9_HUMAN	.	UPI000012D301	SNV	EIF3F,3_prime_UTR_variant,,ENST00000309828,;EIF3F,3_prime_UTR_variant,,ENST00000449102,;EIF3F,3_prime_UTR_variant,,ENST00000537635,;EIF3F,3_prime_UTR_variant,,ENST00000533626,;EIF3F,downstream_gene_variant,,ENST00000531572,;EIF3F,3_prime_UTR_variant,,ENST00000531329,;EIF3F,non_coding_transcript_exon_variant,,ENST00000530219,;EIF3F,downstream_gene_variant,,ENST00000528763,;EIF3F,downstream_gene_variant,,ENST00000528653,;EIF3F,downstream_gene_variant,,ENST00000532882,;	1744	49	45	SUCCESS
CCDC67	0	.	GRCh37	11	93171143	93171143	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	23	0	ENST00000298050.3:c.*258C>T			ENST00000298050	NM_181645.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44707.1	.	RADIA|MUTECT|MUSE	.	TTTTTCCAGTC	NONE	.	.	.	.	.	ENSP00000298050	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000298050	Transcript	.	.	ENSG00000165325	26344	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCD67_HUMAN	CCDC67	HGNC	E9PIY2_HUMAN,E9PPB2_HUMAN,E9PIV7_HUMAN	.	UPI0000161951	SNV	CCDC67,3_prime_UTR_variant,,ENST00000534747,;CCDC67,3_prime_UTR_variant,,ENST00000525646,;CCDC67,3_prime_UTR_variant,,ENST00000298050,;CCDC67,downstream_gene_variant,,ENST00000529909,;CCDC67,3_prime_UTR_variant,,ENST00000531448,;	2173	23	20	SUCCESS
CLEC9A	283420	.	GRCh37	12	10218307	10218307	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs1288303669	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	13	33	0	ENST00000355819.1:c.*76T>A			ENST00000355819	NM_207345.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8611.1	.	MUTECT|MUSE	.	CCCCCTCAAAA	NONE	.	.	.	.	.	ENSP00000348074	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000355819	Transcript	.	.	ENSG00000197992	26705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLC9A_HUMAN	CLEC9A	HGNC	.	.	UPI00001D696C	SNV	CLEC9A,3_prime_UTR_variant,,ENST00000355819,;CLEC1A,downstream_gene_variant,,ENST00000315330,;CLEC1A,downstream_gene_variant,,ENST00000457018,;CLEC9A,downstream_gene_variant,,ENST00000538482,;	1415	33	42	SUCCESS
NUP37	79023	.	GRCh37	12	102468043	102468043	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1267691745	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	51	0	ENST00000251074.1:c.*89A>G			ENST00000251074	NM_024057.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9089.1	.	MUTECT|MUSE	.	TGATATAAAAA	NONE	.	.	.	.	.	ENSP00000448054	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000552283	Transcript	.	.	ENSG00000075188	29929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUP37_HUMAN	NUP37	HGNC	F8VXF5_HUMAN	.	UPI00000372E7	SNV	NUP37,3_prime_UTR_variant,,ENST00000251074,;NUP37,3_prime_UTR_variant,,ENST00000552283,;NUP37,downstream_gene_variant,,ENST00000551744,;RP11-554E23.4,intron_variant,,ENST00000552707,;NUP37,downstream_gene_variant,,ENST00000543021,;NUP37,3_prime_UTR_variant,,ENST00000547269,;NUP37,non_coding_transcript_exon_variant,,ENST00000546385,;NUP37,downstream_gene_variant,,ENST00000551200,;	1210	51	48	SUCCESS
FLVCR2	55640	.	GRCh37	14	76113046	76113046	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	12	0	ENST00000238667.4:c.*231C>T			ENST00000238667	NM_017791.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9844.1	.	MUTECT|MUSE|VARSCANS	.	ACCCCCTTTTA	NONE	.	.	.	.	.	ENSP00000238667	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000238667	Transcript	.	.	ENSG00000119686	20105	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FLVC2_HUMAN	FLVCR2	HGNC	G3V391_HUMAN	.	UPI0000073CD6	SNV	FLVCR2,3_prime_UTR_variant,,ENST00000238667,;FLVCR2,3_prime_UTR_variant,,ENST00000556856,;FLVCR2,intron_variant,,ENST00000553587,;FLVCR2,downstream_gene_variant,,ENST00000553341,;FLVCR2,downstream_gene_variant,,ENST00000539311,;FLVCR2,downstream_gene_variant,,ENST00000555027,;C14orf1,downstream_gene_variant,,ENST00000256319,;FLVCR2,downstream_gene_variant,,ENST00000554580,;FLVCR2,intron_variant,,ENST00000555385,;FLVCR2,intron_variant,,ENST00000556241,;TTLL5,intron_variant,,ENST00000554132,;TTLL5,intron_variant,,ENST00000556265,;FLVCR2,downstream_gene_variant,,ENST00000554496,;FLVCR2,downstream_gene_variant,,ENST00000556745,;	2168	12	15	SUCCESS
CHST6	4166	.	GRCh37	16	75512350	75512350	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	13	0	ENST00000332272.4:c.*189C>A			ENST00000332272	NM_021615.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10918.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCAGAGGAC	NONE	.	.	.	.	.	ENSP00000328983	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000332272	Transcript	.	.	ENSG00000183196	6938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHST6_HUMAN	CHST6	HGNC	.	.	UPI00000467C8	SNV	CHST6,3_prime_UTR_variant,,ENST00000390664,;CHST6,3_prime_UTR_variant,,ENST00000332272,;RP11-77K12.4,intron_variant,,ENST00000530512,;	1557	13	14	SUCCESS
CHST6	4166	.	GRCh37	16	75512351	75512351	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	13	0	ENST00000332272.4:c.*188T>A			ENST00000332272	NM_021615.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10918.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGAGGACT	NONE	.	.	.	.	.	ENSP00000328983	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000332272	Transcript	.	.	ENSG00000183196	6938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHST6_HUMAN	CHST6	HGNC	.	.	UPI00000467C8	SNV	CHST6,3_prime_UTR_variant,,ENST00000390664,;CHST6,3_prime_UTR_variant,,ENST00000332272,;RP11-77K12.4,intron_variant,,ENST00000530512,;	1556	13	15	SUCCESS
TOB1	10140	.	GRCh37	17	48940311	48940311	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	21	92	0				ENST00000268957	NM_001243877.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11576.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCATTTTAA	NONE	.	.	.	.	.	ENSP00000427695	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000499247	Transcript	.	.	ENSG00000141232	11979	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOB1_HUMAN	TOB1	HGNC	.	.	UPI00001370FB	SNV	TOB1,3_prime_UTR_variant,,ENST00000499247,;TOB1,downstream_gene_variant,,ENST00000268957,;TOB1-AS1,upstream_gene_variant,,ENST00000416263,;TOB1-AS1,upstream_gene_variant,,ENST00000514358,;TOB1-AS1,upstream_gene_variant,,ENST00000523470,;TOB1,downstream_gene_variant,,ENST00000509385,;	1502	92	95	SUCCESS
FSD1	79187	.	GRCh37	19	4323803	4323804	+	3_prime_UTR_variant	3'UTR	INS	-	-	CT	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	19	0	ENST00000221856.6:c.*165_*166dup			ENST00000221856	NM_024333.2			0	.	.	.	.	.	CT	.	protein_coding	YES	CCDS12127.1	.	INDELOCATOR|VARSCANI	.	CCCCACCTCAC	NONE	.	.	.	.	.	ENSP00000221856	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000221856	Transcript	.	.	ENSG00000105255	13745	3	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FSD1_HUMAN	FSD1	HGNC	.	.	UPI000007168A	insertion	FSD1,3_prime_UTR_variant,,ENST00000221856,;STAP2,downstream_gene_variant,,ENST00000594605,;STAP2,downstream_gene_variant,,ENST00000601956,;STAP2,downstream_gene_variant,,ENST00000600324,;STAP2,downstream_gene_variant,,ENST00000601482,;FSD1,downstream_gene_variant,,ENST00000597480,;STAP2,downstream_gene_variant,,ENST00000598443,;FSD1,downstream_gene_variant,,ENST00000601006,;FSD1,downstream_gene_variant,,ENST00000594438,;FSD1,downstream_gene_variant,,ENST00000597590,;STAP2,downstream_gene_variant,,ENST00000597593,;FSD1,downstream_gene_variant,,ENST00000598010,;FSD1,non_coding_transcript_exon_variant,,ENST00000598179,;STAP2,downstream_gene_variant,,ENST00000596242,;STAP2,downstream_gene_variant,,ENST00000599736,;STAP2,downstream_gene_variant,,ENST00000602007,;STAP2,downstream_gene_variant,,ENST00000601179,;	1801-1802	19	23	SUCCESS
AC009892.10	0	.	GRCh37	19	55147327	55147327	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs550991119	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	10	128	0	ENST00000456337.1:c.*45C>G			ENST00000456337				0	.	C:0.0023	.	C:0.0014	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GATGAGGAATA	NONE	byFrequency|by1000G	.	.	C:0.001	.	ENSP00000401812	C:0	2/2	.	.	.	.	.	.	.	.	rs550991119	2/2	PASS	ENST00000456337	Transcript	.	C:0.0010	ENSG00000224730	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	.	AC009892.10	Clone_based_vega_gene	F2Z374_HUMAN	.	UPI000155D56E	SNV	AC009892.10,3_prime_UTR_variant,,ENST00000456337,;LILRB1,intron_variant,,ENST00000396317,;LILRB1,intron_variant,,ENST00000448689,;LILRB1,intron_variant,,ENST00000396331,;LILRB1,intron_variant,,ENST00000396315,;LILRB1,intron_variant,,ENST00000427581,;LILRB1,intron_variant,,ENST00000396327,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000434867,;LILRB1,intron_variant,,ENST00000324602,;LILRB1,intron_variant,,ENST00000396332,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480375,;LILRB1,intron_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000487425,;	400	128	216	SUCCESS
RGS5	8490	.	GRCh37	1	163117086	163117087	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	126	14	56	0	ENST00000313961.5:c.*45dup			ENST00000313961	NM_003617.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58041.1	.	INDELOCATOR|VARSCANI	.	TTATTATGGAG	NONE	.	.	.	.	.	ENSP00000433001	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000530507	Transcript	.	.	ENSG00000143248	10001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGS5_HUMAN	RGS5	HGNC	.	.	UPI0001F78466	insertion	RGS5,3_prime_UTR_variant,,ENST00000367903,;RGS5,3_prime_UTR_variant,,ENST00000313961,;RGS5,3_prime_UTR_variant,,ENST00000530507,;RGS5,downstream_gene_variant,,ENST00000527988,;RGS5,intron_variant,,ENST00000469495,;RGS5,downstream_gene_variant,,ENST00000531954,;	671-672	56	140	SUCCESS
RAB4A	5867	.	GRCh37	1	229441089	229441089	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	507	45	271	0	ENST00000366690.4:c.*1549G>A			ENST00000366690	NM_004578.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31050.1	.	MUTECT|MUSE|VARSCANS	.	GCATGGGATAG	NONE	.	.	.	.	.	ENSP00000355651	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000366690	Transcript	.	.	ENSG00000168118	9781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAB4A_HUMAN	RAB4A	HGNC	.	.	UPI0000161F4E	SNV	RAB4A,3_prime_UTR_variant,,ENST00000366690,;SPHAR,3_prime_UTR_variant,,ENST00000366688,;RAB4A,downstream_gene_variant,,ENST00000473894,;	2414	271	552	SUCCESS
PLD5	200150	.	GRCh37	1	242253023	242253023	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	8	41	0	ENST00000442594.2:c.*133A>G			ENST00000442594	NM_152666.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1621.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGTTGTTC	NONE	.	.	.	.	.	ENSP00000440896	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,3_prime_UTR_variant,,ENST00000536534,;PLD5,3_prime_UTR_variant,,ENST00000427495,;PLD5,3_prime_UTR_variant,,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1986	41	89	SUCCESS
ZC3H12A	80149	.	GRCh37	1	37949334	37949334	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	11	25	0	ENST00000373087.6:c.*122A>C			ENST00000373087	NM_025079.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS417.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGATTCAA	NONE	.	.	.	.	.	ENSP00000362179	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373087	Transcript	.	.	ENSG00000163874	26259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZC12A_HUMAN	ZC3H12A	HGNC	C0LED9_HUMAN	.	UPI000004D30E	SNV	ZC3H12A,3_prime_UTR_variant,,ENST00000373087,;ZC3H12A,downstream_gene_variant,,ENST00000471012,;ZC3H12A,downstream_gene_variant,,ENST00000472312,;	2038	25	23	SUCCESS
XBP1	7494	.	GRCh37	22	29191015	29191015	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	24	0	ENST00000216037.6:c.*519A>G			ENST00000216037	NM_005080.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13847.1	.	MUTECT|MUSE	.	GGGGGTCATCT	NONE	.	.	.	.	.	ENSP00000216037	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000216037	Transcript	.	.	ENSG00000100219	12801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XBP1_HUMAN	XBP1	HGNC	.	.	UPI000006FC05	SNV	XBP1,3_prime_UTR_variant,,ENST00000216037,;XBP1,3_prime_UTR_variant,,ENST00000405219,;XBP1,3_prime_UTR_variant,,ENST00000403532,;XBP1,downstream_gene_variant,,ENST00000344347,;XBP1,non_coding_transcript_exon_variant,,ENST00000484256,;XBP1,downstream_gene_variant,,ENST00000482720,;	1378	24	29	SUCCESS
CHRNG	1146	.	GRCh37	2	233410429	233410429	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	8	35	0	ENST00000389494.3:c.*3C>T			ENST00000389494	NM_005199.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33400.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGCCAACCA	NONE	.	.	.	.	.	ENSP00000374145	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000389494	Transcript	.	.	ENSG00000196811	1967	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ACHG_HUMAN	CHRNG	HGNC	.	.	UPI000022BE9E	SNV	CHRNG,3_prime_UTR_variant,,ENST00000389494,;EIF4E2,upstream_gene_variant,,ENST00000409167,;EIF4E2,upstream_gene_variant,,ENST00000409098,;EIF4E2,upstream_gene_variant,,ENST00000258416,;EIF4E2,upstream_gene_variant,,ENST00000409514,;EIF4E2,upstream_gene_variant,,ENST00000409322,;TIGD1,downstream_gene_variant,,ENST00000408957,;EIF4E2,upstream_gene_variant,,ENST00000409495,;CHRNG,downstream_gene_variant,,ENST00000389492,;EIF4E2,upstream_gene_variant,,ENST00000409394,;MIR5001,downstream_gene_variant,,ENST00000580185,;CHRNG,downstream_gene_variant,,ENST00000485094,;EIF4E2,upstream_gene_variant,,ENST00000463074,;EIF4E2,upstream_gene_variant,,ENST00000498242,;	1578	35	50	SUCCESS
MYEOV2	0	.	GRCh37	2	241066176	241066176	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	15	145	0				ENST00000607357	NM_001163424.1	188		0	.	.	.	.	.	G	K/T	protein_coding	YES	CCDS2532.1	563	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTCTTCCGT	NONE	.	.	.	.	.	ENSP00000304147	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000307266	Transcript	.	.	ENSG00000172428	21314	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	MYOV2_HUMAN	MYEOV2	HGNC	.	.	UPI0000071F75	SNV	MYEOV2,missense_variant,p.Lys188Thr,ENST00000307266,;MYEOV2,downstream_gene_variant,,ENST00000607357,;AC013469.1,downstream_gene_variant,,ENST00000593909,;MYEOV2,downstream_gene_variant,,ENST00000489698,;MYEOV2,downstream_gene_variant,,ENST00000491765,;	563	145	138	SUCCESS
ABHD10	55347	.	GRCh37	3	111710719	111710719	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	30	0	ENST00000273359.3:c.*151A>G			ENST00000273359	NM_018394.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2963.1	.	MUTECT|MUSE	.	AAGTAATGCAA	NONE	.	.	.	.	.	ENSP00000273359	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000273359	Transcript	.	.	ENSG00000144827	25656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABHDA_HUMAN	ABHD10	HGNC	B7Z6A8_HUMAN	.	UPI0000042225	SNV	ABHD10,3_prime_UTR_variant,,ENST00000273359,;ABHD10,3_prime_UTR_variant,,ENST00000534857,;ABHD10,downstream_gene_variant,,ENST00000494817,;ABHD10,3_prime_UTR_variant,,ENST00000491580,;ABHD10,3_prime_UTR_variant,,ENST00000493784,;	1099	30	28	SUCCESS
ARF4	378	.	GRCh37	3	57557911	57557911	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs370576910	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	59	8	70	0	ENST00000303436.6:c.*28T>G			ENST00000303436	NM_001660.3			0	G:0	.	.	.	.	C	.	protein_coding	YES	CCDS2884.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAACATGTCC	NONE	byFrequency|byCluster	.	.	.	G:0.0002	ENSP00000306010	.	6/6	.	.	.	.	.	.	.	.	rs370576910	6/6	PASS	ENST00000303436	Transcript	.	.	ENSG00000168374	655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARF4_HUMAN	ARF4	HGNC	U3KQF2_HUMAN,C9JPM4_HUMAN,C9J6P1_HUMAN	.	UPI000013E89E	SNV	ARF4,3_prime_UTR_variant,,ENST00000303436,;ARF4,3_prime_UTR_variant,,ENST00000496292,;ARF4,3_prime_UTR_variant,,ENST00000489843,;ARF4,downstream_gene_variant,,ENST00000463880,;ARF4,downstream_gene_variant,,ENST00000483848,;ARF4,3_prime_UTR_variant,,ENST00000486310,;	839	70	68	SUCCESS
TNIP3	79931	.	GRCh37	4	122053773	122053773	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	26	135	0	ENST00000057513.3:c.*13A>G			ENST00000057513	NM_024873.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58926.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTGTTAGTG	NONE	.	.	.	.	.	ENSP00000426613	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000509841	Transcript	.	.	ENSG00000050730	19315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNIP3_HUMAN	TNIP3	HGNC	.	.	UPI00017A8362	SNV	TNIP3,3_prime_UTR_variant,,ENST00000509841,;TNIP3,3_prime_UTR_variant,,ENST00000454328,;TNIP3,3_prime_UTR_variant,,ENST00000057513,;TNIP3,3_prime_UTR_variant,,ENST00000507879,;TNIP3,downstream_gene_variant,,ENST00000515036,;TNIP3,non_coding_transcript_exon_variant,,ENST00000511909,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;	1240	135	141	SUCCESS
C5orf24	134553	.	GRCh37	5	134193802	134193802	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	354	29	186	0	ENST00000338051.4:c.*2645A>G			ENST00000338051	NM_152409.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4179.1	.	MUTECT|MUSE	.	CAGCTATGTCC	NONE	.	.	.	.	.	ENSP00000378427	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394976	Transcript	.	.	ENSG00000181904	26746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE024_HUMAN	C5orf24	HGNC	.	.	UPI000013FCBD	SNV	C5orf24,3_prime_UTR_variant,,ENST00000504727,;C5orf24,3_prime_UTR_variant,,ENST00000394976,;C5orf24,3_prime_UTR_variant,,ENST00000338051,;C5orf24,downstream_gene_variant,,ENST00000508791,;C5orf24,downstream_gene_variant,,ENST00000435259,;C5orf24,downstream_gene_variant,,ENST00000507390,;DDX46,downstream_gene_variant,,ENST00000507053,;AC006077.4,downstream_gene_variant,,ENST00000604746,;	3440	186	383	SUCCESS
PCDHB7	56129	.	GRCh37	5	140555445	140555445	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	445	49	368	0	ENST00000231137.3:c.*647T>C			ENST00000231137	NM_018940.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4249.1	.	MUTECT|MUSE|VARSCANS	.	AAGTCTTTTAT	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	3203	368	495	SUCCESS
GAPT	202309	.	GRCh37	5	57791727	57791727	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	47	108	0	ENST00000318469.2:c.*890T>C			ENST00000318469				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3975.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTTCCACA	NONE	.	.	.	.	.	ENSP00000379997	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396776	Transcript	.	.	ENSG00000175857	26588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAPT_HUMAN	GAPT	HGNC	D6RBK7_HUMAN,D6RA63_HUMAN	.	UPI0000039EFF	SNV	GAPT,3_prime_UTR_variant,,ENST00000396776,;GAPT,3_prime_UTR_variant,,ENST00000318469,;GAPT,downstream_gene_variant,,ENST00000502276,;GAPT,downstream_gene_variant,,ENST00000511930,;GAPT,intron_variant,,ENST00000511178,;GAPT,downstream_gene_variant,,ENST00000515443,;GAPT,downstream_gene_variant,,ENST00000513924,;	1826	108	117	SUCCESS
MTRF1L	54516	.	GRCh37	6	153310864	153310864	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	8	14	0	ENST00000367233.5:c.*166T>G			ENST00000367233	NM_019041.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5243.1	.	MUTECT|MUSE	.	TGCTAATGCAT	NONE	.	.	.	.	.	ENSP00000356202	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367233	Transcript	.	.	ENSG00000112031	21051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RF1ML_HUMAN	MTRF1L	HGNC	.	.	UPI0000071978	SNV	MTRF1L,3_prime_UTR_variant,,ENST00000367230,;MTRF1L,3_prime_UTR_variant,,ENST00000367233,;MTRF1L,3_prime_UTR_variant,,ENST00000367231,;MTRF1L,3_prime_UTR_variant,,ENST00000414771,;MTRF1L,downstream_gene_variant,,ENST00000448966,;RP1-101K10.6,downstream_gene_variant,,ENST00000442269,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000464135,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000461949,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000485512,;MTRF1L,downstream_gene_variant,,ENST00000463251,;MTRF1L,downstream_gene_variant,,ENST00000485283,;	1309	14	12	SUCCESS
HIST1H3J	0	.	GRCh37	6	27860497	27860497	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	37	71	0				ENST00000359303	NM_003535.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4639.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCCTTTTG	NONE	.	.	.	.	.	ENSP00000352627	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359611	Transcript	.	.	ENSG00000233224	4735	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2A1_HUMAN	HIST1H2AM	HGNC	A4FTV9_HUMAN,A3KPC7_HUMAN	.	UPI0000000E01	SNV	HIST1H2AM,3_prime_UTR_variant,,ENST00000359611,;HIST1H2BO,upstream_gene_variant,,ENST00000303806,;HIST1H3J,upstream_gene_variant,,ENST00000359303,;RNU7-26P,downstream_gene_variant,,ENST00000458980,;HIST1H3J,intron_variant,,ENST00000479986,;	467	71	131	SUCCESS
HLA-F	3134	.	GRCh37	6	29694984	29694984	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	14	30	0				ENST00000334668	NM_018950.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43437.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGATACTAG	NONE	.	.	.	.	.	ENSP00000259951	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000259951	Transcript	.	.	ENSG00000204642	4963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HLAF_HUMAN	HLA-F	HGNC	Q5JZ48_HUMAN,O78094_HUMAN,F6T2Q8_HUMAN	.	UPI000013D098	SNV	HLA-F,3_prime_UTR_variant,,ENST00000444621,;HLA-F,3_prime_UTR_variant,,ENST00000259951,;HLA-F,intron_variant,,ENST00000440587,;HLA-F,downstream_gene_variant,,ENST00000434407,;HLA-F,downstream_gene_variant,,ENST00000376861,;HLA-F,downstream_gene_variant,,ENST00000429294,;HLA-F,downstream_gene_variant,,ENST00000334668,;HLA-F,downstream_gene_variant,,ENST00000414333,;HLA-F,intron_variant,,ENST00000465459,;HLA-F,intron_variant,,ENST00000475996,;HLA-F-AS1,intron_variant,,ENST00000399247,;HLA-F,downstream_gene_variant,,ENST00000485513,;HLA-F,downstream_gene_variant,,ENST00000486194,;HLA-F,downstream_gene_variant,,ENST00000484704,;HLA-F,downstream_gene_variant,,ENST00000482257,;HLA-F,downstream_gene_variant,,ENST00000462777,;HLA-F,downstream_gene_variant,,ENST00000489502,;HLA-F,downstream_gene_variant,,ENST00000606273,;RPL23AP1,upstream_gene_variant,,ENST00000428990,;HCG4P11,upstream_gene_variant,,ENST00000427340,;	1417	30	65	SUCCESS
LYRM2	57226	.	GRCh37	6	90346886	90346886	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	23	0	ENST00000523377.1:c.*106A>G			ENST00000523377	NM_020466.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5023.1	.	MUTECT|MUSE	.	CCAAATACTGT	NONE	.	.	.	.	.	ENSP00000430025	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523377	Transcript	.	.	ENSG00000083099	25229	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYRM2_HUMAN	LYRM2	HGNC	.	.	UPI00000703DA	SNV	LYRM2,3_prime_UTR_variant,,ENST00000520318,;LYRM2,3_prime_UTR_variant,,ENST00000523377,;LYRM2,intron_variant,,ENST00000520441,;ANKRD6,downstream_gene_variant,,ENST00000369408,;LYRM2,non_coding_transcript_exon_variant,,ENST00000524153,;LYRM2,non_coding_transcript_exon_variant,,ENST00000521961,;LYRM2,non_coding_transcript_exon_variant,,ENST00000523075,;LYRM2,non_coding_transcript_exon_variant,,ENST00000517396,;LYRM2,intron_variant,,ENST00000520897,;LYRM2,intron_variant,,ENST00000523793,;LYRM2,intron_variant,,ENST00000412237,;ANKRD6,downstream_gene_variant,,ENST00000415924,;	410	23	22	SUCCESS
FUT9	10690	.	GRCh37	6	96653238	96653238	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	267	45	304	0	ENST00000302103.5:c.*1127G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGATGAATAA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	2533	305	313	SUCCESS
THAP5	168451	.	GRCh37	7	108204423	108204423	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	18	31	0	ENST00000415914.3:c.*212A>G			ENST00000415914	NM_001130475.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47687.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTATCAA	NONE	.	.	.	.	.	ENSP00000400500	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000415914	Transcript	.	.	ENSG00000177683	23188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	THAP5_HUMAN	THAP5	HGNC	.	.	UPI00003E4106	SNV	THAP5,3_prime_UTR_variant,,ENST00000415914,;THAP5,downstream_gene_variant,,ENST00000438865,;THAP5,downstream_gene_variant,,ENST00000313516,;THAP5,intron_variant,,ENST00000468884,;PNPLA8,intron_variant,,ENST00000489738,;THAP5,downstream_gene_variant,,ENST00000446771,;THAP5,downstream_gene_variant,,ENST00000493722,;THAP5,downstream_gene_variant,,ENST00000412935,;THAP5,downstream_gene_variant,,ENST00000484452,;	1554	31	35	SUCCESS
PTP4A3	11156	.	GRCh37	8	142446016	142446016	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs1292839582	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	66	166	0				ENST00000329397				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6383.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCGTGGCGAC	NONE	.	4622	.	.	.	ENSP00000428976	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,downstream_gene_variant,,ENST00000521578,;PTP4A3,downstream_gene_variant,,ENST00000329397,;PTP4A3,downstream_gene_variant,,ENST00000520105,;PTP4A3,downstream_gene_variant,,ENST00000349124,;PTP4A3,downstream_gene_variant,,ENST00000524028,;CTD-3064M3.7,non_coding_transcript_exon_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,synonymous_variant,p.%3D,ENST00000430863,;	.	166	283	SUCCESS
PDP1	54704	.	GRCh37	8	94938016	94938016	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	255	56	167	0	ENST00000297598.4:c.*2115T>C			ENST00000297598	NM_018444.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55262.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAATACATG	NONE	.	.	.	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	SNV	PDP1,3_prime_UTR_variant,,ENST00000396200,;PDP1,3_prime_UTR_variant,,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000517764,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000520728,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	4080	167	312	SUCCESS
NRARP	441478	.	GRCh37	9	140196011	140196011	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	6	44	0	ENST00000356628.2:c.*25G>A			ENST00000356628	NM_001004354.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35188.1	.	RADIA|MUTECT|VARSCANS	.	CAGGGCCGGGG	NONE	.	.	.	.	.	ENSP00000349041	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356628	Transcript	.	.	ENSG00000198435	33843	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NRARP_HUMAN	NRARP	HGNC	.	.	UPI00000E7AD0	SNV	NRARP,3_prime_UTR_variant,,ENST00000356628,;	693	44	61	SUCCESS
AGTR2	186	.	GRCh37	X	115306086	115306086	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs1335819816	.	TCGA-DD-AADM-01	TCGA-DD-AADM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	112	244	1	ENST00000371906.4:c.*1461C>G			ENST00000371906	NM_000686.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14569.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACTTTCT	NONE	.	.	.	.	.	ENSP00000360973	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000371906	Transcript	.	.	ENSG00000180772	338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AGTR2_HUMAN	AGTR2	HGNC	Q6UVH2_HUMAN	.	UPI0000125687	SNV	AGTR2,3_prime_UTR_variant,,ENST00000371906,;	2743	245	247	SUCCESS
SLC18A3	6572	.	GRCh37	10	50820560	50820560	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	74	0	ENST00000374115.3:c.*175C>T			ENST00000374115	NM_003055.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7231.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCTCTTG	NONE	.	.	.	.	.	ENSP00000363229	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374115	Transcript	.	.	ENSG00000187714	10936	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VACHT_HUMAN	SLC18A3	HGNC	.	.	UPI00001F98C1	SNV	SLC18A3,3_prime_UTR_variant,,ENST00000374115,;CHAT,intron_variant,,ENST00000339797,;CHAT,upstream_gene_variant,,ENST00000395562,;CHAT,upstream_gene_variant,,ENST00000395559,;CHAT,upstream_gene_variant,,ENST00000455728,;CHAT,upstream_gene_variant,,ENST00000337653,;CHAT,upstream_gene_variant,,ENST00000351556,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000490270,;CHAT,upstream_gene_variant,,ENST00000466590,;	2214	74	48	SUCCESS
OR5AL1	79482	.	GRCh37	11	56185178	56185178	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	35	166	0				ENST00000440231		177		0	.	.	.	.	.	A	F	protein_coding	YES	CCDS31530.1	531	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATAGAAATG	NONE	.	.	PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	.	.	ENSP00000308595	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312253	Transcript	.	.	ENSG00000174942	14841	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5R1_HUMAN	OR5R1	HGNC	.	.	UPI000004B225	SNV	OR5R1,synonymous_variant,p.%3D,ENST00000312253,;OR5AL1,downstream_gene_variant,,ENST00000327258,;OR5AL1,downstream_gene_variant,,ENST00000440231,;	531	166	86	SUCCESS
HAUS4	54930	.	GRCh37	14	23415581	23415581	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	13	0	ENST00000206474.7:c.*153G>A			ENST00000206474				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9580.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GAAACCAGGAG	NONE	.	.	.	.	.	ENSP00000206474	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000206474	Transcript	.	.	ENSG00000092036	20163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HAUS4_HUMAN	HAUS4	HGNC	G3V5A5_HUMAN,G3V541_HUMAN,G3V4X7_HUMAN	.	UPI000006F422	SNV	HAUS4,3_prime_UTR_variant,,ENST00000555986,;HAUS4,3_prime_UTR_variant,,ENST00000206474,;HAUS4,3_prime_UTR_variant,,ENST00000397409,;HAUS4,3_prime_UTR_variant,,ENST00000347758,;HAUS4,3_prime_UTR_variant,,ENST00000490506,;RP11-298I3.5,3_prime_UTR_variant,,ENST00000555074,;HAUS4,3_prime_UTR_variant,,ENST00000555367,;HAUS4,3_prime_UTR_variant,,ENST00000342454,;HAUS4,3_prime_UTR_variant,,ENST00000541587,;HAUS4,downstream_gene_variant,,ENST00000557591,;HAUS4,downstream_gene_variant,,ENST00000555040,;HAUS4,downstream_gene_variant,,ENST00000554516,;HAUS4,downstream_gene_variant,,ENST00000556915,;RP11-298I3.1,intron_variant,,ENST00000548322,;RP11-298I3.1,intron_variant,,ENST00000548819,;HAUS4,non_coding_transcript_exon_variant,,ENST00000554446,;HAUS4,downstream_gene_variant,,ENST00000553794,;HAUS4,downstream_gene_variant,,ENST00000554349,;HAUS4,downstream_gene_variant,,ENST00000554373,;HAUS4,downstream_gene_variant,,ENST00000554651,;HAUS4,downstream_gene_variant,,ENST00000554063,;HAUS4,downstream_gene_variant,,ENST00000553859,;HAUS4,downstream_gene_variant,,ENST00000556421,;	1498	13	13	SUCCESS
NPAP1	23742	.	GRCh37	15	24927043	24927043	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	16	145	0	ENST00000329468.2:c.*2558C>G			ENST00000329468	NM_018958.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCCCTGATT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6503	145	86	SUCCESS
ABHD2	11057	.	GRCh37	15	89744521	89744526	+	3_prime_UTR_variant	3'UTR	DEL	TCTGTT	TCTGTT	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	TCTGTT	TCTGTT	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	55	0	ENST00000352732.5:c.*5867_*5872delinsG			ENST00000352732	NM_152924.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10348.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CACTCTTCTGTTAGTTT	NONE	.	.	.	.	.	ENSP00000268129	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000352732	Transcript	.	.	ENSG00000140526	18717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ABHD2_HUMAN	ABHD2	HGNC	H3BUZ6_HUMAN,H3BN19_HUMAN,H3BMT2_HUMAN	.	UPI000012E24E	substitution	ABHD2,3_prime_UTR_variant,,ENST00000352732,;ABHD2,3_prime_UTR_variant,,ENST00000355100,;RP11-326A19.5,non_coding_transcript_exon_variant,,ENST00000563131,;	7665-7670	55	36	SUCCESS
JMJD8	339123	.	GRCh37	16	732126	732126	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	72	0	ENST00000412368.2:c.*668G>T			ENST00000412368	NM_001005920.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTGCCCCTT	NONE	.	.	.	.	.	ENSP00000399475	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000412368	Transcript	.	.	ENSG00000161999	14148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JMJD8_HUMAN	JMJD8	HGNC	.	.	UPI0000471011	SNV	JMJD8,3_prime_UTR_variant,,ENST00000609261,;JMJD8,3_prime_UTR_variant,,ENST00000454700,;JMJD8,3_prime_UTR_variant,,ENST00000293882,;JMJD8,3_prime_UTR_variant,,ENST00000412368,;STUB1,intron_variant,,ENST00000565677,;STUB1,intron_variant,,ENST00000567173,;STUB1,intron_variant,,ENST00000219548,;STUB1,intron_variant,,ENST00000564316,;STUB1,intron_variant,,ENST00000564370,;STUB1,intron_variant,,ENST00000566408,;JMJD8,downstream_gene_variant,,ENST00000562111,;JMJD8,downstream_gene_variant,,ENST00000562824,;RHBDL1,downstream_gene_variant,,ENST00000352681,;RHBDL1,downstream_gene_variant,,ENST00000561556,;WDR24,downstream_gene_variant,,ENST00000293883,;RHBDL1,downstream_gene_variant,,ENST00000219551,;WDR24,downstream_gene_variant,,ENST00000248142,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,intron_variant,,ENST00000566181,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568313,;STUB1,intron_variant,,ENST00000569248,;STUB1,upstream_gene_variant,,ENST00000565813,;JMJD8,downstream_gene_variant,,ENST00000565258,;JMJD8,downstream_gene_variant,,ENST00000569396,;JMJD8,downstream_gene_variant,,ENST00000563088,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000566199,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,downstream_gene_variant,,ENST00000570037,;WDR24,downstream_gene_variant,,ENST00000567014,;STUB1,downstream_gene_variant,,ENST00000567790,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000564436,;JMJD8,downstream_gene_variant,,ENST00000567901,;	1583	72	38	SUCCESS
HIVEP3	59269	.	GRCh37	1	41976105	41976105	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	70	0	ENST00000247584.5:c.*17T>G			ENST00000247584				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS463.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTGAAGCAG	NONE	.	.	.	.	.	ENSP00000361664	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000372583	Transcript	.	.	ENSG00000127124	13561	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEP3_HUMAN	HIVEP3	HGNC	.	.	UPI000013CC24	SNV	HIVEP3,3_prime_UTR_variant,,ENST00000372584,;HIVEP3,3_prime_UTR_variant,,ENST00000247584,;HIVEP3,3_prime_UTR_variant,,ENST00000372583,;HIVEP3,downstream_gene_variant,,ENST00000429157,;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	8124	70	51	SUCCESS
FSHR	2492	.	GRCh37	2	49189731	49189731	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	24	0	ENST00000406846.2:c.*141G>A			ENST00000406846	NM_000145.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1843.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTCCTGACC	NONE	.	.	.	.	.	ENSP00000384708	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000406846	Transcript	.	.	ENSG00000170820	3969	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FSHR_HUMAN	FSHR	HGNC	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN	.	UPI000013E97A	SNV	FSHR,3_prime_UTR_variant,,ENST00000346173,;FSHR,3_prime_UTR_variant,,ENST00000406846,;FSHR,downstream_gene_variant,,ENST00000541117,;FSHR,downstream_gene_variant,,ENST00000454032,;FSHR,downstream_gene_variant,,ENST00000304421,;	2349	24	16	SUCCESS
TRA2B	6434	.	GRCh37	3	185635483	185635483	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	469	123	566	0	ENST00000453386.2:c.*20del			ENST00000453386	NM_004593.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS33905.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGCAGGTTTCAG	NONE	.	.	.	.	.	ENSP00000416959	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000453386	Transcript	.	.	ENSG00000136527	10781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRA2B_HUMAN	TRA2B	HGNC	.	.	UPI00000040A0	deletion	TRA2B,3_prime_UTR_variant,,ENST00000259043,;TRA2B,3_prime_UTR_variant,,ENST00000453386,;TRA2B,3_prime_UTR_variant,,ENST00000414862,;TRA2B,downstream_gene_variant,,ENST00000382191,;TRA2B,downstream_gene_variant,,ENST00000465245,;TRA2B,3_prime_UTR_variant,,ENST00000456380,;TRA2B,non_coding_transcript_exon_variant,,ENST00000463328,;TRA2B,non_coding_transcript_exon_variant,,ENST00000487615,;TRA2B,non_coding_transcript_exon_variant,,ENST00000492417,;TRA2B,non_coding_transcript_exon_variant,,ENST00000466832,;	1163	566	592	SUCCESS
CCRL2	9034	.	GRCh37	3	46450950	46450950	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	26	0	ENST00000399036.3:c.*345C>A			ENST00000399036	NM_003965.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46814.1	.	MUTECT|MUSE	.	TTGGTCCAGAA	NONE	.	.	.	.	.	ENSP00000349967	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357392	Transcript	.	.	ENSG00000121797	1612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCRL2_HUMAN	CCRL2	HGNC	C9JP23_HUMAN,B2R8C0_HUMAN	.	UPI00004570F3	SNV	CCRL2,3_prime_UTR_variant,,ENST00000400882,;CCRL2,3_prime_UTR_variant,,ENST00000357392,;CCRL2,3_prime_UTR_variant,,ENST00000399036,;CCRL2,downstream_gene_variant,,ENST00000433848,;CCRL2,downstream_gene_variant,,ENST00000400880,;RP11-24F11.2,upstream_gene_variant,,ENST00000451485,;CCRL2,downstream_gene_variant,,ENST00000495870,;CCRL2,upstream_gene_variant,,ENST00000441909,;	1529	26	25	SUCCESS
CCRL2	9034	.	GRCh37	3	46450951	46450951	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	27	0	ENST00000399036.3:c.*346C>A			ENST00000399036	NM_003965.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46814.1	.	MUTECT|MUSE	.	TGGTCCAGAAC	NONE	.	.	.	.	.	ENSP00000349967	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357392	Transcript	.	.	ENSG00000121797	1612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCRL2_HUMAN	CCRL2	HGNC	C9JP23_HUMAN,B2R8C0_HUMAN	.	UPI00004570F3	SNV	CCRL2,3_prime_UTR_variant,,ENST00000400882,;CCRL2,3_prime_UTR_variant,,ENST00000357392,;CCRL2,3_prime_UTR_variant,,ENST00000399036,;CCRL2,downstream_gene_variant,,ENST00000433848,;CCRL2,downstream_gene_variant,,ENST00000400880,;RP11-24F11.2,upstream_gene_variant,,ENST00000451485,;CCRL2,downstream_gene_variant,,ENST00000495870,;CCRL2,upstream_gene_variant,,ENST00000441909,;	1530	27	25	SUCCESS
CEP57L1	285753	.	GRCh37	6	109484356	109484356	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	47	0	ENST00000359793.3:c.*183A>G			ENST00000359793	NM_173830.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5071.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTAATTGCT	NONE	.	.	.	.	.	ENSP00000383936	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000407272	Transcript	.	.	ENSG00000183137	21561	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE57L_HUMAN	CEP57L1	HGNC	E5RK85_HUMAN,E5RJP9_HUMAN,E5RJG4_HUMAN,E5RIK8_HUMAN,E5RI49_HUMAN,E5RHF8_HUMAN,E5RH23_HUMAN,E5RG82_HUMAN,E5RG21_HUMAN	.	UPI00000741C4	SNV	CEP57L1,3_prime_UTR_variant,,ENST00000520883,;CEP57L1,3_prime_UTR_variant,,ENST00000336977,;CEP57L1,3_prime_UTR_variant,,ENST00000521522,;CEP57L1,3_prime_UTR_variant,,ENST00000368970,;CEP57L1,3_prime_UTR_variant,,ENST00000407272,;CEP57L1,3_prime_UTR_variant,,ENST00000523787,;CEP57L1,3_prime_UTR_variant,,ENST00000517392,;CEP57L1,3_prime_UTR_variant,,ENST00000368968,;CEP57L1,3_prime_UTR_variant,,ENST00000359793,;CEP57L1,downstream_gene_variant,,ENST00000523174,;CEP57L1,downstream_gene_variant,,ENST00000522490,;CEP57L1,downstream_gene_variant,,ENST00000521277,;CEP57L1,downstream_gene_variant,,ENST00000520761,;CEP57L1,downstream_gene_variant,,ENST00000520610,;C6orf183,upstream_gene_variant,,ENST00000417143,;	2143	47	38	SUCCESS
DOPEY1	0	.	GRCh37	6	83878007	83878007	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	26	0	ENST00000349129.2:c.*121T>G			ENST00000349129	NM_015018.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56436.1	.	RADIA|MUTECT|MUSE	.	GTATTTAATTT	NONE	.	835	.	.	.	ENSP00000425809	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000506587	Transcript	.	.	ENSG00000013375	8907	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AGM1_HUMAN	PGM3	HGNC	J3KN95_HUMAN,D6RIS6_HUMAN,D6RF77_HUMAN,D6RCQ8_HUMAN,D6RC77_HUMAN	.	UPI0000579B50	SNV	PGM3,3_prime_UTR_variant,,ENST00000513973,;DOPEY1,3_prime_UTR_variant,,ENST00000237163,;DOPEY1,3_prime_UTR_variant,,ENST00000369739,;DOPEY1,3_prime_UTR_variant,,ENST00000349129,;PGM3,intron_variant,,ENST00000512866,;PGM3,downstream_gene_variant,,ENST00000509219,;PGM3,downstream_gene_variant,,ENST00000283977,;PGM3,downstream_gene_variant,,ENST00000506587,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;PGM3,intron_variant,,ENST00000504780,;	.	26	14	SUCCESS
CCZ1B	221960	.	GRCh37	7	6838619	6838619	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs796903753	.	TCGA-DD-AADN-01	TCGA-DD-AADN-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	65	1	ENST00000316731.8:c.*236T>G			ENST00000316731	NM_198097.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5354.1	.	RADIA|MUTECT|VARSCANS	.	ATTCAAATAAT	NONE	.	.	.	.	.	ENSP00000314544	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000316731	Transcript	.	.	ENSG00000146574	21717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCZ1B_HUMAN	CCZ1B	HGNC	Q7L8P3_HUMAN,F5H553_HUMAN	.	UPI000006CEFF	SNV	CCZ1B,3_prime_UTR_variant,,ENST00000316731,;CCZ1B,3_prime_UTR_variant,,ENST00000538180,;RSPH10B2,downstream_gene_variant,,ENST00000404077,;RSPH10B2,downstream_gene_variant,,ENST00000359718,;RSPH10B2,downstream_gene_variant,,ENST00000403107,;RSPH10B2,downstream_gene_variant,,ENST00000297186,;RSPH10B2,downstream_gene_variant,,ENST00000433859,;CCZ1B,intron_variant,,ENST00000481830,;CCZ1B,intron_variant,,ENST00000472464,;CCZ1B,upstream_gene_variant,,ENST00000597208,;RSPH10B2,downstream_gene_variant,,ENST00000463354,;CCZ1B,upstream_gene_variant,,ENST00000429267,;RSPH10B2,3_prime_UTR_variant,,ENST00000485920,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000467004,;CCZ1B,downstream_gene_variant,,ENST00000468078,;	2258	66	17	SUCCESS
STK32C	282974	.	GRCh37	10	134021385	134021385	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	22	64	0	ENST00000298630.3:c.*129G>A			ENST00000298630	NM_173575.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7666.1	.	MUTECT|MUSE	.	TGTGTCCGGGG	NONE	.	.	.	.	.	ENSP00000298630	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000298630	Transcript	.	.	ENSG00000165752	21332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ST32C_HUMAN	STK32C	HGNC	I6L972_HUMAN	.	UPI0000192113	SNV	STK32C,3_prime_UTR_variant,,ENST00000368622,;STK32C,3_prime_UTR_variant,,ENST00000368625,;STK32C,3_prime_UTR_variant,,ENST00000298630,;DPYSL4,downstream_gene_variant,,ENST00000368627,;DPYSL4,downstream_gene_variant,,ENST00000338492,;DPYSL4,downstream_gene_variant,,ENST00000368629,;DPYSL4,downstream_gene_variant,,ENST00000471544,;STK32C,3_prime_UTR_variant,,ENST00000462160,;	1697	64	57	SUCCESS
SYT15	83849	.	GRCh37	10	46959890	46959890	+	downstream_gene_variant	3'Flank	DEL	T	T	-	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	5	57	0				ENST00000374321	NM_031912.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS44376.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGATACTTATCA	NONE	.	2044	.	.	.	ENSP00000363441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374321	Transcript	.	.	ENSG00000204176	17167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYT15_HUMAN	SYT15	HGNC	.	.	UPI00001AA161	deletion	SYT15,3_prime_UTR_variant,,ENST00000374323,;SYT15,intron_variant,,ENST00000503753,;SYT15,intron_variant,,ENST00000374325,;SYT15,intron_variant,,ENST00000374328,;SYT15,downstream_gene_variant,,ENST00000374321,;RP11-38L15.3,intron_variant,,ENST00000506914,;SYT15,intron_variant,,ENST00000449358,;	.	57	51	SUCCESS
DNAJC22	79962	.	GRCh37	12	49745496	49745496	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	10	0	ENST00000395069.3:c.*211A>T			ENST00000395069	NM_024902.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8785.1	.	MUTECT|MUSE	.	GGCCAATATAG	NONE	.	.	.	.	.	ENSP00000446830	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000549441	Transcript	.	.	ENSG00000178401	25802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DJC22_HUMAN	DNAJC22	HGNC	.	.	UPI000006D2CC	SNV	DNAJC22,3_prime_UTR_variant,,ENST00000395069,;DNAJC22,3_prime_UTR_variant,,ENST00000549441,;DNAJC22,intron_variant,,ENST00000552651,;DNAJC22,intron_variant,,ENST00000551153,;	2441	10	9	SUCCESS
EDDM3B	64184	.	GRCh37	14	21239103	21239103	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	33	0	ENST00000326783.3:c.*350T>A			ENST00000326783	NM_022360.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9557.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACTGCAAT	NONE	.	.	.	.	.	ENSP00000314810	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326783	Transcript	.	.	ENSG00000181552	19223	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EP3B_HUMAN	EDDM3B	HGNC	.	.	UPI000003EDF8	SNV	EDDM3B,3_prime_UTR_variant,,ENST00000326783,;	892	33	45	SUCCESS
GNPNAT1	64841	.	GRCh37	14	53244766	53244766	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	8	0	ENST00000216410.3:c.*263G>T			ENST00000216410	NM_198066.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9712.1	.	MUTECT|MUSE	.	AAATACAATGC	NONE	.	.	.	.	.	ENSP00000216410	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216410	Transcript	.	.	ENSG00000100522	19980	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNA1_HUMAN	GNPNAT1	HGNC	G3V5E4_HUMAN,G3V4W4_HUMAN	.	UPI000003B007	SNV	GNPNAT1,3_prime_UTR_variant,,ENST00000216410,;GNPNAT1,3_prime_UTR_variant,,ENST00000554230,;STYX,downstream_gene_variant,,ENST00000442123,;STYX,downstream_gene_variant,,ENST00000354586,;GNPNAT1,downstream_gene_variant,,ENST00000557604,;RP11-589M4.1,downstream_gene_variant,,ENST00000555689,;RP11-589M4.1,downstream_gene_variant,,ENST00000555969,;STYX,downstream_gene_variant,,ENST00000556861,;GNPNAT1,upstream_gene_variant,,ENST00000554421,;GNPNAT1,downstream_gene_variant,,ENST00000553987,;	1006	8	10	SUCCESS
FLRT2	23768	.	GRCh37	14	86092273	86092273	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	19	144	0	ENST00000330753.4:c.*2432A>G			ENST00000330753	NM_013231.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9877.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGAAGAGGT	NONE	.	.	.	.	.	ENSP00000332879	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330753	Transcript	.	.	ENSG00000185070	3761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FLRT2_HUMAN	FLRT2	HGNC	B4DM15_HUMAN	.	UPI0000049E10	SNV	FLRT2,3_prime_UTR_variant,,ENST00000330753,;FLRT2,downstream_gene_variant,,ENST00000554746,;FLRT2,non_coding_transcript_exon_variant,,ENST00000553650,;	5182	144	99	SUCCESS
RPL4	6124	.	GRCh37	15	66791736	66791736	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs376486107	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	21	0	ENST00000307961.6:c.*9A>G			ENST00000307961	NM_000968.3			0	A:0	.	.	.	.	C	.	protein_coding	YES	CCDS10218.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAAATTTAAG	NONE	byCluster	.	.	.	A:0.0001	ENSP00000311430	.	10/10	.	.	.	.	.	.	.	.	rs376486107	10/10	PASS	ENST00000307961	Transcript	.	.	ENSG00000174444	10353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RL4_HUMAN	RPL4	HGNC	H3BM89_HUMAN	.	UPI00001340F1	SNV	RPL4,3_prime_UTR_variant,,ENST00000568588,;RPL4,3_prime_UTR_variant,,ENST00000307961,;SNAPC5,upstream_gene_variant,,ENST00000307979,;RPL4,downstream_gene_variant,,ENST00000569438,;SNAPC5,upstream_gene_variant,,ENST00000566658,;SNAPC5,upstream_gene_variant,,ENST00000395589,;SNAPC5,upstream_gene_variant,,ENST00000316634,;RPL4,downstream_gene_variant,,ENST00000569696,;SNAPC5,upstream_gene_variant,,ENST00000563480,;SNORD16,downstream_gene_variant,,ENST00000362803,;MIR4512,upstream_gene_variant,,ENST00000583257,;SNORD18A,downstream_gene_variant,,ENST00000363753,;SNORD18C,downstream_gene_variant,,ENST00000362704,;SNORD18B,downstream_gene_variant,,ENST00000365659,;RPL4,non_coding_transcript_exon_variant,,ENST00000565723,;RPL4,downstream_gene_variant,,ENST00000563473,;RPL4,non_coding_transcript_exon_variant,,ENST00000567229,;RPL4,non_coding_transcript_exon_variant,,ENST00000561775,;RPL4,downstream_gene_variant,,ENST00000564744,;RPL4,downstream_gene_variant,,ENST00000566624,;RPL4,downstream_gene_variant,,ENST00000561554,;SNAPC5,upstream_gene_variant,,ENST00000565465,;RPL4,downstream_gene_variant,,ENST00000566622,;RPL4,downstream_gene_variant,,ENST00000566039,;RPL4,downstream_gene_variant,,ENST00000564439,;RPL4,downstream_gene_variant,,ENST00000564647,;SNAPC5,upstream_gene_variant,,ENST00000568875,;RPL4,downstream_gene_variant,,ENST00000566491,;SNAPC5,upstream_gene_variant,,ENST00000562411,;	1386	21	30	SUCCESS
ADAMTSL3	57188	.	GRCh37	15	84706565	84706565	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	108	19	107	0	ENST00000286744.5:c.*7G>C			ENST00000286744	NM_207517.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10326.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGGAGGG	NONE	.	.	.	.	.	ENSP00000286744	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000286744	Transcript	.	.	ENSG00000156218	14633	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATL3_HUMAN	ADAMTSL3	HGNC	.	.	UPI00001615A5	SNV	ADAMTSL3,missense_variant,p.Leu1679Phe,ENST00000567476,;ADAMTSL3,3_prime_UTR_variant,,ENST00000286744,;	5307	107	128	SUCCESS
FBRS	64319	.	GRCh37	16	30680998	30680998	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	27	0	ENST00000287468.5:c.*32A>T			ENST00000287468	NM_001105079.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GCTCCATCTCC	NONE	.	.	.	.	.	ENSP00000348489	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000356166	Transcript	.	.	ENSG00000156860	20442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FBRS	HGNC	J3KNZ9_HUMAN	.	UPI0000E59D83	SNV	FBRS,3_prime_UTR_variant,,ENST00000287468,;FBRS,3_prime_UTR_variant,,ENST00000568722,;FBRS,3_prime_UTR_variant,,ENST00000356166,;FBRS,intron_variant,,ENST00000395073,;FBRS,3_prime_UTR_variant,,ENST00000543786,;FBRS,non_coding_transcript_exon_variant,,ENST00000494101,;FBRS,downstream_gene_variant,,ENST00000570170,;	4063	27	13	SUCCESS
RBFOX1	54715	.	GRCh37	16	7760818	7760818	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	26	0	ENST00000547338.1:c.*71A>C			ENST00000547338	NM_001142334.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10531.1	.	MUTECT|MUSE	.	AATACATGCAG	NONE	.	.	.	.	.	ENSP00000309117	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000311745	Transcript	.	.	ENSG00000078328	18222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFOX1_HUMAN	RBFOX1	HGNC	.	.	UPI000006E29E	SNV	RBFOX1,3_prime_UTR_variant,,ENST00000553186,;RBFOX1,3_prime_UTR_variant,,ENST00000355637,;RBFOX1,3_prime_UTR_variant,,ENST00000340209,;RBFOX1,3_prime_UTR_variant,,ENST00000567470,;RBFOX1,3_prime_UTR_variant,,ENST00000547338,;RBFOX1,3_prime_UTR_variant,,ENST00000311745,;RBFOX1,3_prime_UTR_variant,,ENST00000436368,;RBFOX1,3_prime_UTR_variant,,ENST00000550418,;RBFOX1,3_prime_UTR_variant,,ENST00000547372,;RBFOX1,downstream_gene_variant,,ENST00000535565,;RBFOX1,downstream_gene_variant,,ENST00000552089,;RBFOX1,downstream_gene_variant,,ENST00000422070,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	1580	26	12	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39273935	39273935	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs76326084	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	19	123	0	ENST00000391413.2:c.*45T>C			ENST00000391413	NM_033059.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45675.1	.	RADIA|MUTECT|MUSE	.	CTACAACTGTG	NONE	.	.	.	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	rs76326084	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,3_prime_UTR_variant,,ENST00000391413,;	672	124	114	SUCCESS
TMEM100	55273	.	GRCh37	17	53798003	53798003	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs746054735	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	39	0	ENST00000424486.2:c.*24A>T			ENST00000424486	NM_018286.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11587.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATGGCCC	NONE	.	.	.	.	.	ENSP00000465638	.	4/4	.	.	.	.	.	.	.	.	rs746054735	4/4	PASS	ENST00000575734	Transcript	.	.	ENSG00000166292	25607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM100_HUMAN	TMEM100	HGNC	.	.	UPI000004A0C2	SNV	TMEM100,3_prime_UTR_variant,,ENST00000575734,;TMEM100,3_prime_UTR_variant,,ENST00000424486,;TMEM100,downstream_gene_variant,,ENST00000571679,;TMEM100,downstream_gene_variant,,ENST00000570586,;TMEM100,downstream_gene_variant,,ENST00000575685,;TMEM100,downstream_gene_variant,,ENST00000575806,;	1238	39	44	SUCCESS
BAIAP2	10458	.	GRCh37	17	79090382	79090382	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1190483290	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	13	0	ENST00000321300.6:c.*277C>T			ENST00000321300	NM_001144888.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11775.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCCGCTG	NONE	.	.	.	.	.	ENSP00000316338	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000321300	Transcript	.	.	ENSG00000175866	947	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BAIP2_HUMAN	BAIAP2	HGNC	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN	.	UPI000000D762	SNV	BAIAP2,3_prime_UTR_variant,,ENST00000321300,;BAIAP2,downstream_gene_variant,,ENST00000575245,;AATK,downstream_gene_variant,,ENST00000326724,;BAIAP2,downstream_gene_variant,,ENST00000392411,;BAIAP2,downstream_gene_variant,,ENST00000428708,;BAIAP2,downstream_gene_variant,,ENST00000435091,;AATK,downstream_gene_variant,,ENST00000417379,;BAIAP2,downstream_gene_variant,,ENST00000572498,;AATK,downstream_gene_variant,,ENST00000573469,;AATK,downstream_gene_variant,,ENST00000374792,;AATK,downstream_gene_variant,,ENST00000570932,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	2029	13	25	SUCCESS
PDE6G	5148	.	GRCh37	17	79618095	79618095	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs756354916	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	17	70	0	ENST00000331056.5:c.*9C>T			ENST00000331056	NM_002602.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11783.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGGGCCTC	NONE	byFrequency	.	.	.	.	ENSP00000328412	.	4/4	.	.	.	.	.	.	.	.	rs756354916	4/4	PASS	ENST00000331056	Transcript	.	.	ENSG00000185527	8789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNRG_HUMAN	PDE6G	HGNC	.	.	UPI0000127C39	SNV	PDE6G,missense_variant,p.Pro69Leu,ENST00000574024,;PDE6G,3_prime_UTR_variant,,ENST00000573076,;PDE6G,3_prime_UTR_variant,,ENST00000571004,;PDE6G,3_prime_UTR_variant,,ENST00000331056,;PDE6G,3_prime_UTR_variant,,ENST00000571224,;TSPAN10,downstream_gene_variant,,ENST00000328585,;PDE6G,non_coding_transcript_exon_variant,,ENST00000574777,;TSPAN10,downstream_gene_variant,,ENST00000540189,;TSPAN10,downstream_gene_variant,,ENST00000571707,;NPLOC4,upstream_gene_variant,,ENST00000570300,;TSPAN10,downstream_gene_variant,,ENST00000572675,;	417	70	71	SUCCESS
CCDC102B	79839	.	GRCh37	18	66721390	66721390	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	44	0	ENST00000319445.6:c.*16T>G			ENST00000319445	NM_001093729.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11996.2	.	MUTECT|MUSE	.	AAATATGCTGA	NONE	.	.	.	.	.	ENSP00000353377	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000360242	Transcript	.	.	ENSG00000150636	26295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C102B_HUMAN	CCDC102B	HGNC	J3QLG6_HUMAN,J3QL62_HUMAN,J3KRT2_HUMAN,J3KRG3_HUMAN,A1A4H1_HUMAN	.	UPI0000201E87	SNV	CCDC102B,3_prime_UTR_variant,,ENST00000319445,;CCDC102B,3_prime_UTR_variant,,ENST00000360242,;	1675	44	17	SUCCESS
ZNF525	170958	.	GRCh37	19	53885958	53885958	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	22	55	0				ENST00000355326				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTGGAGAAT	NONE	.	.	.	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,3_prime_UTR_variant,,ENST00000474037,;ZNF525,3_prime_UTR_variant,,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000355326,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	2260	55	62	SUCCESS
LAIR1	3903	.	GRCh37	19	54866837	54866837	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs770294341	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	39	0	ENST00000391742.2:c.*40T>C			ENST00000391742				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12891.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGACTTTC	NONE	.	.	.	.	.	ENSP00000375622	.	10/10	.	.	.	.	.	.	.	.	rs770294341	10/10	PASS	ENST00000391742	Transcript	.	.	ENSG00000167613	6477	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAIR1_HUMAN	LAIR1	HGNC	.	.	UPI000011A058	SNV	LAIR1,3_prime_UTR_variant,,ENST00000391742,;LAIR1,3_prime_UTR_variant,,ENST00000348231,;LAIR1,3_prime_UTR_variant,,ENST00000434277,;LAIR1,3_prime_UTR_variant,,ENST00000391743,;LAIR1,3_prime_UTR_variant,,ENST00000313038,;LAIR1,downstream_gene_variant,,ENST00000474878,;LAIR1,downstream_gene_variant,,ENST00000444687,;CTD-2587H19.1,upstream_gene_variant,,ENST00000596234,;LAIR1,downstream_gene_variant,,ENST00000463489,;LAIR1,downstream_gene_variant,,ENST00000468656,;LAIR1,non_coding_transcript_exon_variant,,ENST00000475389,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000391741,;LAIR1,downstream_gene_variant,,ENST00000460312,;LAIR1,downstream_gene_variant,,ENST00000420483,;LAIR1,downstream_gene_variant,,ENST00000467269,;LAIR1,downstream_gene_variant,,ENST00000440716,;LAIR1,downstream_gene_variant,,ENST00000436513,;LAIR1,downstream_gene_variant,,ENST00000418556,;	1057	39	46	SUCCESS
GPR88	54112	.	GRCh37	1	101006729	101006729	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	104	0	ENST00000315033.4:c.*1052G>T			ENST00000315033	NM_022049.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS772.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGGCATGT	NONE	.	.	.	.	.	ENSP00000314223	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315033	Transcript	.	.	ENSG00000181656	4539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR88_HUMAN	GPR88	HGNC	.	.	UPI00001403B3	SNV	GPR88,3_prime_UTR_variant,,ENST00000315033,;	2646	104	75	SUCCESS
SFT2D2	375035	.	GRCh37	1	168215839	168215839	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs553759120	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	26	0	ENST00000271375.4:c.*4061C>T			ENST00000271375	NM_199344.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1271.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATGACGCAAT	NONE	.	.	.	.	.	ENSP00000271375	.	8/8	.	.	.	.	.	.	.	.	rs553759120	8/8	PASS	ENST00000271375	Transcript	.	.	ENSG00000213064	25140	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SFT2B_HUMAN	SFT2D2	HGNC	.	.	UPI0000072549	SNV	SFT2D2,3_prime_UTR_variant,,ENST00000271375,;SFT2D2,downstream_gene_variant,,ENST00000367825,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000358576,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000604892,;	4616	26	56	SUCCESS
CDC42	998	.	GRCh37	1	22418046	22418046	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs780795212	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	20	66	0	ENST00000344548.3:c.*36C>T			ENST00000344548	NM_001039802.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS221.1	.	MUTECT|MUSE	.	GGTGTCGGCAT	NONE	byFrequency	.	.	.	.	ENSP00000341072	.	7/7	.	.	.	.	.	.	.	.	rs780795212	7/7	PASS	ENST00000344548	Transcript	.	.	ENSG00000070831	1736	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDC42_HUMAN	CDC42	HGNC	Q9UJM1_HUMAN,Q9UJM0_HUMAN,Q5JYX0_HUMAN	.	UPI0000000356	SNV	CDC42,3_prime_UTR_variant,,ENST00000400259,;CDC42,3_prime_UTR_variant,,ENST00000344548,;CDC42,3_prime_UTR_variant,,ENST00000421089,;CDC42,downstream_gene_variant,,ENST00000315554,;CDC42,downstream_gene_variant,,ENST00000411827,;CDC42,downstream_gene_variant,,ENST00000498236,;	863	66	54	SUCCESS
C1orf200	0	.	GRCh37	1	9713824	9713824	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	42	0	ENST00000377320.3:c.*13C>G			ENST00000377320				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CCATGGCCTGC	NONE	.	.	.	.	.	ENSP00000366537	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377320	Transcript	.	.	ENSG00000179840	32346	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA200_HUMAN	C1orf200	HGNC	.	.	UPI000014155B	SNV	C1orf200,3_prime_UTR_variant,,ENST00000377320,;PIK3CD,intron_variant,,ENST00000536656,;PIK3CD,intron_variant,,ENST00000377346,;	667	42	22	SUCCESS
POLDIP3	84271	.	GRCh37	22	42981649	42981649	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	15	0	ENST00000252115.5:c.*148A>G			ENST00000252115	NM_001278657.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14038.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGTCCCAT	NONE	.	.	.	.	.	ENSP00000252115	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000252115	Transcript	.	.	ENSG00000100227	23782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDIP3_HUMAN	POLDIP3	HGNC	Q96DI9_HUMAN	.	UPI000006EEA7	SNV	POLDIP3,3_prime_UTR_variant,,ENST00000451060,;POLDIP3,3_prime_UTR_variant,,ENST00000348657,;POLDIP3,3_prime_UTR_variant,,ENST00000252115,;POLDIP3,intron_variant,,ENST00000339677,;RRP7B,upstream_gene_variant,,ENST00000357802,;RRP7B,upstream_gene_variant,,ENST00000437211,;POLDIP3,downstream_gene_variant,,ENST00000491021,;RRP7B,upstream_gene_variant,,ENST00000421116,;RRP7B,upstream_gene_variant,,ENST00000458605,;POLDIP3,3_prime_UTR_variant,,ENST00000445215,;RRP7B,upstream_gene_variant,,ENST00000566851,;	1519	15	21	SUCCESS
B3GALT1	8708	.	GRCh37	2	168727107	168727107	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	55	123	0	ENST00000392690.3:c.*577A>G			ENST00000392690				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2227.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAACATTC	NONE	.	.	.	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,3_prime_UTR_variant,,ENST00000305861,;B3GALT1,3_prime_UTR_variant,,ENST00000392690,;AC016723.4,intron_variant,,ENST00000436982,;AC016723.4,upstream_gene_variant,,ENST00000430546,;	1650	123	196	SUCCESS
KIAA1715	0	.	GRCh37	2	176794602	176794602	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	31	49	0	ENST00000272748.4:c.*93A>C			ENST00000272748	NM_030650.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33332.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCTTAGAGG	NONE	.	.	.	.	.	ENSP00000272748	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000272748	Transcript	.	.	ENSG00000144320	21610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LNP_HUMAN	KIAA1715	HGNC	C9JM95_HUMAN	.	UPI00001C1DB7	SNV	KIAA1715,3_prime_UTR_variant,,ENST00000272748,;KIAA1715,3_prime_UTR_variant,,ENST00000409660,;KIAA1715,downstream_gene_variant,,ENST00000544803,;KIAA1715,downstream_gene_variant,,ENST00000535310,;KIAA1715,downstream_gene_variant,,ENST00000475515,;KIAA1715,downstream_gene_variant,,ENST00000431754,;KIAA1715,downstream_gene_variant,,ENST00000479012,;	1628	49	75	SUCCESS
COL3A1	1281	.	GRCh37	2	189876697	189876697	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	13	0	ENST00000304636.3:c.*197T>C			ENST00000304636	NM_000090.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2297.1	.	MUTECT|MUSE	.	AATGCTTTTTG	NONE	.	.	.	.	.	ENSP00000304408	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000304636	Transcript	.	.	ENSG00000168542	2201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CO3A1_HUMAN	COL3A1	HGNC	Q6LBY7_HUMAN,D2JYH5_HUMAN	.	UPI0000456EBA	SNV	COL3A1,3_prime_UTR_variant,,ENST00000317840,;COL3A1,3_prime_UTR_variant,,ENST00000304636,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;	4768	13	28	SUCCESS
PLD1	5337	.	GRCh37	3	171320740	171320740	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	22	0	ENST00000351298.4:c.*128A>T			ENST00000351298	NM_002662.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3216.1	.	MUTECT|MUSE	.	AGTCATTCCAA	NONE	.	.	.	.	.	ENSP00000342793	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000351298	Transcript	.	.	ENSG00000075651	9067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLD1_HUMAN	PLD1	HGNC	C9IY79_HUMAN	.	UPI0000131BDC	SNV	PLD1,3_prime_UTR_variant,,ENST00000356327,;PLD1,3_prime_UTR_variant,,ENST00000342215,;PLD1,3_prime_UTR_variant,,ENST00000351298,;PLD1,upstream_gene_variant,,ENST00000463281,;	3480	22	9	SUCCESS
PDCD6IP	10015	.	GRCh37	3	33908095	33908095	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	7	49	0	ENST00000307296.3:c.*78A>G			ENST00000307296				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54561.1	.	MUTECT|MUSE	.	ACTCTACGCTC	NONE	.	.	.	.	.	ENSP00000411825	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000457054	Transcript	.	.	ENSG00000170248	8766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDC6I_HUMAN	PDCD6IP	HGNC	.	.	UPI00004121D3	SNV	PDCD6IP,3_prime_UTR_variant,,ENST00000457054,;PDCD6IP,3_prime_UTR_variant,,ENST00000307296,;PDCD6IP,downstream_gene_variant,,ENST00000465122,;PDCD6IP,downstream_gene_variant,,ENST00000489869,;PDCD6IP,downstream_gene_variant,,ENST00000473593,;	2855	49	37	SUCCESS
NAA15	80155	.	GRCh37	4	140309383	140309383	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	25	0	ENST00000296543.5:c.*145C>A			ENST00000296543	NM_057175.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43270.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTATCCTGCT	NONE	.	.	.	.	.	ENSP00000296543	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000296543	Transcript	1	.	ENSG00000164134	30782	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NAA15_HUMAN	NAA15	HGNC	.	.	UPI000004B631	SNV	NAA15,3_prime_UTR_variant,,ENST00000296543,;NAA15,3_prime_UTR_variant,,ENST00000398947,;NAA15,intron_variant,,ENST00000515576,;NAA15,downstream_gene_variant,,ENST00000485905,;	3069	25	18	SUCCESS
FAM218A	152756	.	GRCh37	4	165879084	165879084	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs564557424	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	5	155	0	ENST00000513876.2:c.*436T>C			ENST00000513876	NM_153027.1			0	.	G:0.0008	.	G:0	.	C	.	protein_coding	YES	CCDS3807.1	.	MUTECT|MUSE	.	AGACTTCTGCC	NONE	by1000G	.	.	G:0	.	ENSP00000427428	G:0	1/1	.	.	.	.	.	.	.	.	rs564557424	1/1	PASS	ENST00000513876	Transcript	.	G:0.0002	ENSG00000250486	26466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,3_prime_UTR_variant,,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	985	155	100	SUCCESS
SLC34A1	6569	.	GRCh37	5	176825423	176825423	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	85	0	ENST00000324417.5:c.*136T>A			ENST00000324417	NM_003052.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4418.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTCTGGG	NONE	.	.	.	.	.	ENSP00000321424	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000324417	Transcript	1	.	ENSG00000131183	11019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPT2A_HUMAN	SLC34A1	HGNC	Q05BP0_HUMAN,D6RCE5_HUMAN	.	UPI0000130408	SNV	SLC34A1,3_prime_UTR_variant,,ENST00000324417,;GRK6,upstream_gene_variant,,ENST00000502598,;F12,downstream_gene_variant,,ENST00000253496,;PFN3,downstream_gene_variant,,ENST00000358571,;SLC34A1,non_coding_transcript_exon_variant,,ENST00000513614,;F12,downstream_gene_variant,,ENST00000514943,;F12,downstream_gene_variant,,ENST00000504406,;F12,downstream_gene_variant,,ENST00000502854,;SLC34A1,downstream_gene_variant,,ENST00000507685,;F12,downstream_gene_variant,,ENST00000510358,;	2147	85	95	SUCCESS
FRMD1	79981	.	GRCh37	6	168457745	168457745	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs371531445	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	25	0	ENST00000283309.6:c.*32G>A			ENST00000283309	NM_024919.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS5306.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGCGGTGC	NONE	byFrequency|byCluster	.	.	.	T:0.0002	ENSP00000283309	.	11/11	.	.	.	.	.	.	.	.	rs371531445	11/11	PASS	ENST00000283309	Transcript	.	.	ENSG00000153303	21240	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FRMD1_HUMAN	FRMD1	HGNC	F5GXR0_HUMAN	.	UPI000013F36A	SNV	FRMD1,3_prime_UTR_variant,,ENST00000537786,;FRMD1,3_prime_UTR_variant,,ENST00000440994,;FRMD1,3_prime_UTR_variant,,ENST00000283309,;FRMD1,non_coding_transcript_exon_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,non_coding_transcript_exon_variant,,ENST00000336070,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,;	1747	25	39	SUCCESS
PSMB1	5689	.	GRCh37	6	170844212	170844212	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	36	0	ENST00000262193.6:c.*96A>G			ENST00000262193	NM_002793.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34577.1	.	MUTECT|MUSE	.	GTACTTCAGGT	NONE	.	.	.	.	.	ENSP00000262193	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262193	Transcript	.	.	ENSG00000008018	9537	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSB1_HUMAN	PSMB1	HGNC	.	.	UPI000013259C	SNV	PSMB1,3_prime_UTR_variant,,ENST00000262193,;PSMB1,downstream_gene_variant,,ENST00000462957,;	921	36	37	SUCCESS
FUT9	10690	.	GRCh37	6	96653640	96653640	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADO-01	TCGA-DD-AADO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	14	91	0	ENST00000302103.5:c.*1529T>C			ENST00000302103	NM_006581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5033.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCTATTTG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	2935	91	118	SUCCESS
KAT6B	23522	.	GRCh37	10	76790996	76790996	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	16	0	ENST00000287239.4:c.*192T>A			ENST00000287239	NM_001256468.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7345.1	.	MUTECT|MUSE	.	TTTCCTTTTTC	NONE	.	.	.	.	.	ENSP00000287239	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000287239	Transcript	1	.	ENSG00000156650	17582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAT6B_HUMAN	KAT6B	HGNC	.	.	UPI000013DEA0	SNV	KAT6B,3_prime_UTR_variant,,ENST00000372711,;KAT6B,3_prime_UTR_variant,,ENST00000372725,;KAT6B,3_prime_UTR_variant,,ENST00000372724,;KAT6B,3_prime_UTR_variant,,ENST00000287239,;KAT6B,downstream_gene_variant,,ENST00000372714,;	6903	16	13	SUCCESS
OS9	10956	.	GRCh37	12	58114880	58114880	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	10	0	ENST00000315970.7:c.*188C>G			ENST00000315970	NM_006812.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31843.1	.	MUTECT|MUSE	.	GCCACCTTGAG	NONE	.	.	.	.	.	ENSP00000318165	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000315970	Transcript	.	.	ENSG00000135506	16994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OS9_HUMAN	OS9	HGNC	Q9BR60_HUMAN	.	UPI0000130EAC	SNV	OS9,3_prime_UTR_variant,,ENST00000413095,;OS9,3_prime_UTR_variant,,ENST00000257966,;OS9,3_prime_UTR_variant,,ENST00000435406,;OS9,3_prime_UTR_variant,,ENST00000551035,;OS9,3_prime_UTR_variant,,ENST00000315970,;OS9,3_prime_UTR_variant,,ENST00000389142,;OS9,3_prime_UTR_variant,,ENST00000439210,;AGAP2,downstream_gene_variant,,ENST00000328568,;AGAP2,downstream_gene_variant,,ENST00000257897,;OS9,downstream_gene_variant,,ENST00000552285,;OS9,downstream_gene_variant,,ENST00000389146,;OS9,downstream_gene_variant,,ENST00000547079,;RP11-571M6.7,non_coding_transcript_exon_variant,,ENST00000549477,;RP11-571M6.8,downstream_gene_variant,,ENST00000548410,;RP11-571M6.8,downstream_gene_variant,,ENST00000602413,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,non_coding_transcript_exon_variant,,ENST00000546916,;OS9,downstream_gene_variant,,ENST00000552787,;OS9,downstream_gene_variant,,ENST00000550202,;OS9,downstream_gene_variant,,ENST00000550699,;OS9,downstream_gene_variant,,ENST00000550438,;	2233	10	14	SUCCESS
CLUH	23277	.	GRCh37	17	2593654	2593654	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1158615895	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	23	0	ENST00000435359.1:c.*234C>T			ENST00000435359	NM_015229.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45572.1	.	MUTECT|MUSE	.	CACACGCCATT	NONE	.	.	.	.	.	ENSP00000458986	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000570628	Transcript	.	.	ENSG00000132361	29094	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLU_HUMAN	CLUH	HGNC	I3L3A3_HUMAN,I3L350_HUMAN,I3L318_HUMAN	.	UPI00004C8042	SNV	CLUH,3_prime_UTR_variant,,ENST00000435359,;CLUH,3_prime_UTR_variant,,ENST00000575014,;CLUH,3_prime_UTR_variant,,ENST00000538975,;CLUH,3_prime_UTR_variant,,ENST00000570628,;PAFAH1B1,downstream_gene_variant,,ENST00000397195,;CLUH,downstream_gene_variant,,ENST00000574426,;RP11-74E22.6,downstream_gene_variant,,ENST00000608984,;CLUH,downstream_gene_variant,,ENST00000574166,;CLUH,downstream_gene_variant,,ENST00000573641,;CLUH,downstream_gene_variant,,ENST00000574210,;CLUH,downstream_gene_variant,,ENST00000572014,;	4270	23	11	SUCCESS
GAS2L2	246176	.	GRCh37	17	34071729	34071729	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	15	0	ENST00000254466.6:c.*144C>A			ENST00000254466	NM_139285.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11298.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATGGAGTCT	NONE	.	.	.	.	.	ENSP00000254466	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000254466	Transcript	.	.	ENSG00000132139	24846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GA2L2_HUMAN	GAS2L2	HGNC	.	.	UPI0000061E50	SNV	GAS2L2,3_prime_UTR_variant,,ENST00000254466,;RASL10B,downstream_gene_variant,,ENST00000268864,;GAS2L2,downstream_gene_variant,,ENST00000587565,;	2815	15	18	SUCCESS
ZNF490	57474	.	GRCh37	19	12691167	12691167	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	26	0	ENST00000311437.6:c.*132G>A			ENST00000311437	NM_020714.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12272.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CACGTCTTCAA	NONE	.	.	.	.	.	ENSP00000311521	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311437	Transcript	.	.	ENSG00000188033	23705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN490_HUMAN	ZNF490	HGNC	.	.	UPI0000001C6F	SNV	ZNF490,3_prime_UTR_variant,,ENST00000311437,;ZNF490,downstream_gene_variant,,ENST00000440366,;ZNF490,downstream_gene_variant,,ENST00000465656,;CTD-2192J16.20,3_prime_UTR_variant,,ENST00000593682,;ZNF490,downstream_gene_variant,,ENST00000414906,;	1845	26	13	SUCCESS
GIPC3	126326	.	GRCh37	19	3590232	3590232	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	21	68	0	ENST00000322315.5:c.*44C>T			ENST00000322315	NM_133261.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32871.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCCCCT	NONE	.	.	.	.	.	ENSP00000319254	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000322315	Transcript	1	.	ENSG00000179855	18183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GIPC3_HUMAN	GIPC3	HGNC	.	.	UPI000006F1A9	SNV	GIPC3,3_prime_UTR_variant,,ENST00000322315,;TBXA2R,downstream_gene_variant,,ENST00000589966,;TBXA2R,downstream_gene_variant,,ENST00000411851,;TBXA2R,downstream_gene_variant,,ENST00000375190,;	1028	68	48	SUCCESS
RBBP4	5928	.	GRCh37	1	33146125	33146125	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs552436900	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	136	13	302	0	ENST00000373493.5:c.*819del			ENST00000373493	NM_005610.2			0	.	T:0.0008	.	T:0.0014	.	-	.	protein_coding	YES	CCDS366.1	.	INDELOCATOR|VARSCANI	.	TTTTTTAGGAGT	NONE	byFrequency|by1000G	.	.	T:0.003	.	ENSP00000362592	T:0.001	12/12	.	.	.	.	.	.	.	.	rs552436900	12/12	PASS	ENST00000373493	Transcript	.	T:0.0012	ENSG00000162521	9887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RBBP4_HUMAN	RBBP4	HGNC	H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN	.	UPI000013318C	deletion	RBBP4,splice_acceptor_variant,,ENST00000482190,;RBBP4,splice_acceptor_variant,,ENST00000373485,;SYNC,3_prime_UTR_variant,,ENST00000409190,;SYNC,3_prime_UTR_variant,,ENST00000373484,;RBBP4,3_prime_UTR_variant,,ENST00000373493,;RBBP4,downstream_gene_variant,,ENST00000414241,;RBBP4,downstream_gene_variant,,ENST00000458695,;RBBP4,downstream_gene_variant,,ENST00000544435,;RBBP4,downstream_gene_variant,,ENST00000463378,;RBBP4,splice_acceptor_variant,,ENST00000460669,;RBBP4,downstream_gene_variant,,ENST00000492348,;	2256	302	149	SUCCESS
RBBP4	5928	.	GRCh37	1	33146125	33146125	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs552436900	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	55	284	1	ENST00000373493.5:c.*819A>T			ENST00000373493	NM_005610.2			0	.	T:0.0008	.	T:0.0014	.	T	.	protein_coding	YES	CCDS366.1	.	RADIA|VARSCANS	.	TTTTTAGGAGT	NONE	byFrequency|by1000G	.	.	T:0.003	.	ENSP00000362592	T:0.001	12/12	.	.	.	.	.	.	.	.	rs552436900	12/12	PASS	ENST00000373493	Transcript	.	T:0.0012	ENSG00000162521	9887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	RBBP4_HUMAN	RBBP4	HGNC	H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN	.	UPI000013318C	SNV	RBBP4,splice_acceptor_variant,,ENST00000482190,;RBBP4,splice_acceptor_variant,,ENST00000373485,;SYNC,3_prime_UTR_variant,,ENST00000409190,;SYNC,3_prime_UTR_variant,,ENST00000373484,;RBBP4,3_prime_UTR_variant,,ENST00000373493,;RBBP4,downstream_gene_variant,,ENST00000414241,;RBBP4,downstream_gene_variant,,ENST00000458695,;RBBP4,downstream_gene_variant,,ENST00000544435,;RBBP4,downstream_gene_variant,,ENST00000463378,;RBBP4,splice_acceptor_variant,,ENST00000460669,;RBBP4,downstream_gene_variant,,ENST00000492348,;	2256	286	124	SUCCESS
PRPF38A	84950	.	GRCh37	1	52882462	52882462	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	45	102	0	ENST00000257181.9:c.*100T>G			ENST00000257181	NM_032864.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS567.1	.	MUTECT|MUSE	.	ATATTTTAGTT	NONE	.	.	.	.	.	ENSP00000257181	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000257181	Transcript	.	.	ENSG00000134748	25930	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PR38A_HUMAN	PRPF38A	HGNC	.	.	UPI000006D9C2	SNV	PRPF38A,3_prime_UTR_variant,,ENST00000257181,;ZCCHC11,intron_variant,,ENST00000528457,;PRPF38A,non_coding_transcript_exon_variant,,ENST00000474048,;ZCCHC11,intron_variant,,ENST00000527941,;	1225	102	65	SUCCESS
RTFDC1	0	.	GRCh37	20	55093525	55093525	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	9	0	ENST00000023939.4:c.*204G>T			ENST00000023939	NM_016407.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13453.1	.	MUTECT|MUSE	.	ACAGTGGCCCG	NONE	.	.	.	.	.	ENSP00000023939	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000023939	Transcript	.	.	ENSG00000022277	15890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTF2_HUMAN	RTFDC1	HGNC	.	.	UPI000013C542	SNV	RTFDC1,3_prime_UTR_variant,,ENST00000357348,;RTFDC1,3_prime_UTR_variant,,ENST00000395881,;RTFDC1,3_prime_UTR_variant,,ENST00000023939,;GCNT7,intron_variant,,ENST00000243913,;RTFDC1,downstream_gene_variant,,ENST00000449062,;FAM209A,intron_variant,,ENST00000481560,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000477573,;RTFDC1,downstream_gene_variant,,ENST00000477485,;AL109806.1,upstream_gene_variant,,ENST00000320170,;	1232	9	14	SUCCESS
ORC4	5000	.	GRCh37	2	148693009	148693009	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	33	0	ENST00000264169.2:c.*70T>G			ENST00000264169	NM_181742.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2187.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTAATGGA	NONE	.	.	.	.	.	ENSP00000376597	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000392857	Transcript	.	.	ENSG00000115947	8490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ORC4_HUMAN	ORC4	HGNC	Q96B14_HUMAN,Q53TH5_HUMAN,Q53SE3_HUMAN,C9JGH7_HUMAN,C9J2X8_HUMAN,B7Z632_HUMAN	.	UPI000013D4D3	SNV	ORC4,3_prime_UTR_variant,,ENST00000392858,;ORC4,3_prime_UTR_variant,,ENST00000392857,;ORC4,3_prime_UTR_variant,,ENST00000542387,;ORC4,3_prime_UTR_variant,,ENST00000536575,;ORC4,3_prime_UTR_variant,,ENST00000540442,;ORC4,3_prime_UTR_variant,,ENST00000535373,;ORC4,3_prime_UTR_variant,,ENST00000264169,;ACVR2A,downstream_gene_variant,,ENST00000241416,;ORC4,downstream_gene_variant,,ENST00000488761,;ORC4,downstream_gene_variant,,ENST00000481488,;	1489	33	31	SUCCESS
CNPPD1	27013	.	GRCh37	2	220034747	220034747	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	24	82	0				ENST00000360507	NM_015680.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46517.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACCAGAGTTA	NONE	.	.	.	.	.	ENSP00000406546	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000455516	Transcript	.	.	ENSG00000213901	20601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S23A3_HUMAN	SLC23A3	HGNC	.	.	UPI0001914DC9	SNV	SLC23A3,5_prime_UTR_variant,,ENST00000295738,;SLC23A3,5_prime_UTR_variant,,ENST00000396775,;SLC23A3,5_prime_UTR_variant,,ENST00000455516,;SLC23A3,upstream_gene_variant,,ENST00000430764,;CNPPD1,downstream_gene_variant,,ENST00000451647,;SLC23A3,upstream_gene_variant,,ENST00000409878,;SLC23A3,upstream_gene_variant,,ENST00000409370,;CNPPD1,downstream_gene_variant,,ENST00000360507,;CNPPD1,downstream_gene_variant,,ENST00000409789,;CNPPD1,downstream_gene_variant,,ENST00000453038,;SLC23A3,5_prime_UTR_variant,,ENST00000421779,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000497918,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000498327,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000465580,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000461812,;SLC23A3,upstream_gene_variant,,ENST00000414999,;SLC23A3,upstream_gene_variant,,ENST00000318673,;	8	82	75	SUCCESS
C2orf72	257407	.	GRCh37	2	231911763	231911763	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	20	90	0	ENST00000373640.4:c.*27C>T			ENST00000373640	NM_001144994.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46539.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGCTCTAA	NONE	.	.	.	.	.	ENSP00000362743	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373640	Transcript	.	.	ENSG00000204128	27418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB072_HUMAN	C2orf72	HGNC	.	.	UPI00004190AD	SNV	C2orf72,3_prime_UTR_variant,,ENST00000373640,;RP11-223I10.1,upstream_gene_variant,,ENST00000568958,;C2orf72,non_coding_transcript_exon_variant,,ENST00000477463,;C2orf72,non_coding_transcript_exon_variant,,ENST00000463834,;	991	90	63	SUCCESS
RFC2	5982	.	GRCh37	7	73646355	73646355	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADP-01	TCGA-DD-AADP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	36	0	ENST00000055077.3:c.*81G>T			ENST00000055077	NM_001278792.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5568.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGCGGCAT	NONE	.	.	.	.	.	ENSP00000055077	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000055077	Transcript	.	.	ENSG00000049541	9970	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFC2_HUMAN	RFC2	HGNC	F8WDC9_HUMAN	.	UPI000012516A	SNV	RFC2,3_prime_UTR_variant,,ENST00000055077,;RFC2,3_prime_UTR_variant,,ENST00000352131,;LAT2,downstream_gene_variant,,ENST00000460943,;LAT2,downstream_gene_variant,,ENST00000344995,;LAT2,downstream_gene_variant,,ENST00000275635,;RFC2,3_prime_UTR_variant,,ENST00000485545,;RFC2,downstream_gene_variant,,ENST00000470266,;LAT2,downstream_gene_variant,,ENST00000488266,;LAT2,downstream_gene_variant,,ENST00000490586,;RFC2,downstream_gene_variant,,ENST00000480432,;RFC2,downstream_gene_variant,,ENST00000497430,;RFC2,downstream_gene_variant,,ENST00000494019,;	1207	36	20	SUCCESS
ELOVL3	83401	.	GRCh37	10	103989062	103989067	+	3_prime_UTR_variant	3'UTR	DEL	GAGGCT	GAGGCT	-	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	GAGGCT	GAGGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	23	0	ENST00000370005.3:c.*54_*59del			ENST00000370005	NM_152310.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7531.1	.	INDELOCATOR*|PINDEL	.	CACCAAGAGGCTGGGCT	NONE	.	.	.	.	.	ENSP00000359022	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370005	Transcript	.	.	ENSG00000119915	18047	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ELOV3_HUMAN	ELOVL3	HGNC	.	.	UPI000004CAF5	deletion	ELOVL3,3_prime_UTR_variant,,ENST00000370005,;PITX3,downstream_gene_variant,,ENST00000539804,;PITX3,downstream_gene_variant,,ENST00000370002,;	1087-1092	23	28	SUCCESS
USP15	9958	.	GRCh37	12	62798173	62798173	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1313896506	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	188	10	221	0	ENST00000280377.5:c.*18A>G			ENST00000280377	NM_001252078.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58251.1	.	MUTECT|MUSE	.	AAGCCATAAAA	NONE	.	.	.	.	.	ENSP00000280377	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000280377	Transcript	.	.	ENSG00000135655	12613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP15_HUMAN	USP15	HGNC	F8VZG8_HUMAN,F8VVY7_HUMAN	.	UPI00001379F8	SNV	USP15,3_prime_UTR_variant,,ENST00000353364,;USP15,3_prime_UTR_variant,,ENST00000393654,;USP15,3_prime_UTR_variant,,ENST00000280377,;USP15,intron_variant,,ENST00000549415,;USP15,non_coding_transcript_exon_variant,,ENST00000552346,;USP15,non_coding_transcript_exon_variant,,ENST00000549101,;USP15,3_prime_UTR_variant,,ENST00000548620,;	3022	221	198	SUCCESS
ACOT2	10965	.	GRCh37	14	74042303	74042303	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	88	187	0	ENST00000238651.5:c.*86T>G			ENST00000238651	NM_006821.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9816.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTTTTGTT	NONE	.	.	.	.	.	ENSP00000238651	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000238651	Transcript	.	.	ENSG00000119673	18431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACOT2_HUMAN	ACOT2	HGNC	.	.	UPI000013CA4E	SNV	ACOT2,3_prime_UTR_variant,,ENST00000538782,;ACOT2,3_prime_UTR_variant,,ENST00000238651,;ACOT2,downstream_gene_variant,,ENST00000557857,;NT5CP1,upstream_gene_variant,,ENST00000554092,;	1720	187	187	SUCCESS
SNURF	8926	.	GRCh37	15	25213230	25213230	+	splice_donor_variant	Splice_Site	SNP	G	G	T	rs368905564	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	46	0	ENST00000338327.4:c.*45+1G>T			ENST00000338327	NM_022804.2			0	A:0	.	.	.	.	T	.	protein_coding	YES	CCDS10017.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAGGTTAGA	NONE	byCluster	.	.	.	A:0.0001	ENSP00000382972	.	.	.	.	.	.	.	.	.	.	rs368905564	.	PASS	ENST00000400100	Transcript	1	.	ENSG00000128739	11164	.	.	HIGH	6/12	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RSMN_HUMAN	SNRPN	HGNC	Q9UKR4_HUMAN,Q6LBS1_HUMAN,J3QLE5_HUMAN,J3KRY3_HUMAN	.	UPI000002948A	SNV	SNRPN,splice_donor_variant,,ENST00000400100,;SNRPN,splice_donor_variant,,ENST00000400098,;SNURF,splice_donor_variant,,ENST00000338327,;SNRPN,splice_donor_variant,,ENST00000584968,;SNURF,splice_donor_variant,,ENST00000338094,;SNRPN,splice_donor_variant,,ENST00000400097,;SNRPN,splice_donor_variant,,ENST00000554227,;SNRPN,splice_donor_variant,,ENST00000390687,;SNRPN,splice_donor_variant,,ENST00000579070,;SNRPN,splice_donor_variant,,ENST00000577565,;SNRPN,splice_donor_variant,,ENST00000346403,;SNURF,3_prime_UTR_variant,,ENST00000577949,;SNRPN,splice_donor_variant,,ENST00000553597,;SNURF,splice_donor_variant,,ENST00000551312,;SNURF,splice_donor_variant,,ENST00000580062,;SNURF,intron_variant,,ENST00000557230,;	.	46	38	SUCCESS
ARMC5	79798	.	GRCh37	16	31478252	31478252	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	41	0	ENST00000268314.4:c.*42G>T			ENST00000268314	NM_001105247.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45472.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGCTGTG	NONE	.	.	.	.	.	ENSP00000268314	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000268314	Transcript	.	.	ENSG00000140691	25781	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARMC5_HUMAN	ARMC5	HGNC	.	.	UPI0000F6E6C0	SNV	ARMC5,3_prime_UTR_variant,,ENST00000538189,;ARMC5,3_prime_UTR_variant,,ENST00000268314,;ARMC5,3_prime_UTR_variant,,ENST00000564900,;ARMC5,3_prime_UTR_variant,,ENST00000563544,;ARMC5,3_prime_UTR_variant,,ENST00000457010,;ARMC5,3_prime_UTR_variant,,ENST00000408912,;ARMC5,3_prime_UTR_variant,,ENST00000412665,;TGFB1I1,upstream_gene_variant,,ENST00000565454,;ARMC5,downstream_gene_variant,,ENST00000564514,;ARMC5,downstream_gene_variant,,ENST00000570119,;	3379	41	35	SUCCESS
IFI35	3430	.	GRCh37	17	41166341	41166342	+	3_prime_UTR_variant	3'UTR	INS	-	-	C	rs752251565	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	51	0	ENST00000415816.2:c.*32dup			ENST00000415816	NM_005533.4			0	C:0.0071	.	.	.	.	C	.	protein_coding	YES	CCDS11450.1	.	INDELOCATOR|VARSCANI	.	TCCCCACCCCC	NONE	.	.	.	.	C:0.0038	ENSP00000395590	.	7/7	.	.	.	.	.	.	.	.	rs752251565	7/7	PASS	ENST00000438323	Transcript	.	.	ENSG00000068079	5399	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IN35_HUMAN	IFI35	HGNC	.	.	UPI0000200E4E	insertion	IFI35,3_prime_UTR_variant,,ENST00000438323,;IFI35,3_prime_UTR_variant,,ENST00000415816,;VAT1,downstream_gene_variant,,ENST00000587173,;VAT1,downstream_gene_variant,,ENST00000420567,;VAT1,downstream_gene_variant,,ENST00000355653,;VAT1,downstream_gene_variant,,ENST00000587147,;VAT1,downstream_gene_variant,,ENST00000587062,;VAT1,downstream_gene_variant,,ENST00000589828,;VAT1,downstream_gene_variant,,ENST00000590924,;VAT1,downstream_gene_variant,,ENST00000589709,;IFI35,downstream_gene_variant,,ENST00000536969,;IFI35,downstream_gene_variant,,ENST00000538473,;IFI35,downstream_gene_variant,,ENST00000534876,;IFI35,downstream_gene_variant,,ENST00000246911,;IFI35,downstream_gene_variant,,ENST00000546325,;IFI35,downstream_gene_variant,,ENST00000396722,;VAT1,downstream_gene_variant,,ENST00000592388,;	1100-1101	51	49	SUCCESS
C17orf104	0	.	GRCh37	17	42751585	42751585	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	25	72	0	ENST00000409122.2:c.*21G>A			ENST00000409122	NM_001145080.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45703.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGAATAA	NONE	.	.	.	.	.	ENSP00000386452	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000409122	Transcript	.	.	ENSG00000180336	26670	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CQ104_HUMAN	C17orf104	HGNC	C9JYK8_HUMAN,C9J4A2_HUMAN	.	UPI0001881A86	SNV	C17orf104,3_prime_UTR_variant,,ENST00000409122,;CCDC43,intron_variant,,ENST00000588687,;CCDC43,downstream_gene_variant,,ENST00000457422,;CCDC43,downstream_gene_variant,,ENST00000315286,;C17orf104,downstream_gene_variant,,ENST00000359945,;CCDC43,downstream_gene_variant,,ENST00000588210,;C17orf104,downstream_gene_variant,,ENST00000409464,;RP11-1072C15.4,non_coding_transcript_exon_variant,,ENST00000591628,;C17orf104,upstream_gene_variant,,ENST00000588805,;C17orf104,intron_variant,,ENST00000472403,;	3022	72	66	SUCCESS
PPP4R1	9989	.	GRCh37	18	9547633	9547633	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	19	0	ENST00000400556.3:c.*154A>T			ENST00000400556	NM_001042388.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42412.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGGTAT	NONE	.	.	.	.	.	ENSP00000383402	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000400556	Transcript	.	.	ENSG00000154845	9320	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP4R1_HUMAN	PPP4R1	HGNC	J3QLA6_HUMAN,J3QL26_HUMAN,J3KSB0_HUMAN,J3KRU1_HUMAN,B4DID3_HUMAN	.	UPI000006D6DE	SNV	PPP4R1,3_prime_UTR_variant,,ENST00000400555,;PPP4R1,3_prime_UTR_variant,,ENST00000400556,;PPP4R1,downstream_gene_variant,,ENST00000579609,;PPP4R1,downstream_gene_variant,,ENST00000584754,;PPP4R1,non_coding_transcript_exon_variant,,ENST00000582594,;PPP4R1,downstream_gene_variant,,ENST00000578329,;PPP4R1,downstream_gene_variant,,ENST00000578010,;PPP4R1,downstream_gene_variant,,ENST00000285124,;	3081	19	14	SUCCESS
ZNF799	90576	.	GRCh37	19	12500942	12500942	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	8	0	ENST00000430385.3:c.*338G>T			ENST00000430385	NM_001080821.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45989.1	.	MUTECT|MUSE	.	TGAGTCCCTAA	NONE	.	.	.	.	.	ENSP00000411084	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000430385	Transcript	.	.	ENSG00000196466	28071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN799_HUMAN	ZNF799	HGNC	M0R135_HUMAN,D3YTF2_HUMAN	.	UPI000016184E	SNV	ZNF799,3_prime_UTR_variant,,ENST00000419318,;ZNF799,3_prime_UTR_variant,,ENST00000430385,;CTD-3105H18.16,downstream_gene_variant,,ENST00000595562,;ZNF799,downstream_gene_variant,,ENST00000595766,;ZNF799,non_coding_transcript_exon_variant,,ENST00000460935,;CTD-3105H18.14,intron_variant,,ENST00000435033,;	2471	8	14	SUCCESS
OSCAR	126014	.	GRCh37	19	54598416	54598416	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs1021279192	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	49	123	0	ENST00000359649.4:c.*527G>C			ENST00000359649	NM_206818.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12876.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGGACAGTCC	NONE	.	.	.	.	.	ENSP00000352671	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,3_prime_UTR_variant,,ENST00000284648,;OSCAR,3_prime_UTR_variant,,ENST00000351806,;OSCAR,3_prime_UTR_variant,,ENST00000356532,;OSCAR,3_prime_UTR_variant,,ENST00000359649,;OSCAR,3_prime_UTR_variant,,ENST00000391761,;OSCAR,3_prime_UTR_variant,,ENST00000358375,;OSCAR,downstream_gene_variant,,ENST00000391760,;	1411	123	132	SUCCESS
REG4	83998	.	GRCh37	1	120337057	120337057	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	18	36	0	ENST00000256585.5:c.*184T>A			ENST00000256585	NM_032044.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS906.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCTAGAAGC	NONE	.	.	.	.	.	ENSP00000346158	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000354219	Transcript	.	.	ENSG00000134193	22977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REG4_HUMAN	REG4	HGNC	.	.	UPI000003EE44	SNV	REG4,3_prime_UTR_variant,,ENST00000354219,;REG4,3_prime_UTR_variant,,ENST00000530654,;REG4,3_prime_UTR_variant,,ENST00000256585,;	1101	36	29	SUCCESS
NRIP1	8204	.	GRCh37	21	16337020	16337020	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	25	66	0	ENST00000318948.4:c.*17A>G			ENST00000318948	NM_003489.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13568.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAACTGGATG	NONE	.	.	.	.	.	ENSP00000383063	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000400202	Transcript	.	.	ENSG00000180530	8001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRIP1_HUMAN	NRIP1	HGNC	N0GWB6_HUMAN,N0GW17_HUMAN,C9J130_HUMAN	.	UPI000004A0A8	SNV	NRIP1,3_prime_UTR_variant,,ENST00000400202,;NRIP1,3_prime_UTR_variant,,ENST00000318948,;NRIP1,3_prime_UTR_variant,,ENST00000400199,;NRIP1,downstream_gene_variant,,ENST00000411932,;AF127577.10,downstream_gene_variant,,ENST00000446301,;	4207	66	32	SUCCESS
ZEB2	9839	.	GRCh37	2	145146378	145146378	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	29	0	ENST00000409487.3:c.*640T>A			ENST00000409487				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2186.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTACTTTT	NONE	.	.	.	.	.	ENSP00000454157	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,3_prime_UTR_variant,,ENST00000539609,;ZEB2,3_prime_UTR_variant,,ENST00000409487,;ZEB2,3_prime_UTR_variant,,ENST00000419938,;ZEB2,3_prime_UTR_variant,,ENST00000303660,;ZEB2,3_prime_UTR_variant,,ENST00000558170,;	5470	29	22	SUCCESS
XIRP2	129446	.	GRCh37	2	168115577	168115577	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs766745683	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	284	176	511	1	ENST00000409195.1:c.*1250G>A			ENST00000409195	NM_152381.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42769.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCGTGAAA	NONE	byFrequency	.	.	.	.	ENSP00000386840	.	11/11	.	.	.	.	.	.	.	.	rs766745683	11/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,missense_variant,p.Val619Met,ENST00000409605,;XIRP2,missense_variant,p.Val874Met,ENST00000420519,;XIRP2,missense_variant,p.Val841Met,ENST00000409756,;XIRP2,missense_variant,p.Val841Met,ENST00000409043,;XIRP2,missense_variant,p.Val874Met,ENST00000409728,;XIRP2,3_prime_UTR_variant,,ENST00000409273,;XIRP2,3_prime_UTR_variant,,ENST00000409195,;XIRP2,3_prime_UTR_variant,,ENST00000295237,;	11989	512	460	SUCCESS
U2SURP	23350	.	GRCh37	3	142775385	142775385	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	46	135	0	ENST00000473835.2:c.*93A>G			ENST00000473835	NM_001080415.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46928.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAAGAGCA	NONE	.	.	.	.	.	ENSP00000418563	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000473835	Transcript	.	.	ENSG00000163714	30855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SR140_HUMAN	U2SURP	HGNC	C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN	.	UPI0000160746	SNV	U2SURP,3_prime_UTR_variant,,ENST00000467348,;U2SURP,3_prime_UTR_variant,,ENST00000473835,;U2SURP,3_prime_UTR_variant,,ENST00000493598,;U2SURP,3_prime_UTR_variant,,ENST00000397933,;U2SURP,downstream_gene_variant,,ENST00000480029,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,downstream_gene_variant,,ENST00000488497,;	3273	135	126	SUCCESS
ALPK1	80216	.	GRCh37	4	113362606	113362606	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	7	14	0	ENST00000177648.9:c.*240A>T			ENST00000177648				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3697.1	.	MUTECT|MUSE	.	CCATGAGGGAT	NONE	.	.	.	.	.	ENSP00000398048	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000458497	Transcript	.	.	ENSG00000073331	20917	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ALPK1_HUMAN	ALPK1	HGNC	.	.	UPI000045725F	SNV	ALPK1,3_prime_UTR_variant,,ENST00000458497,;ALPK1,3_prime_UTR_variant,,ENST00000177648,;ALPK1,downstream_gene_variant,,ENST00000504176,;ALPK1,3_prime_UTR_variant,,ENST00000505127,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,downstream_gene_variant,,ENST00000509722,;	4254	14	10	SUCCESS
SH3D19	152503	.	GRCh37	4	152043077	152043077	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	17	0	ENST00000304527.4:c.*166A>T			ENST00000304527	NM_001009555.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34077.2	.	MUTECT|MUSE	.	AAAATTAACTA	NONE	.	.	.	.	.	ENSP00000302913	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000304527	Transcript	.	.	ENSG00000109686	30418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SH319_HUMAN	SH3D19	HGNC	.	.	UPI0000251D9A	SNV	SH3D19,3_prime_UTR_variant,,ENST00000424281,;SH3D19,3_prime_UTR_variant,,ENST00000304527,;SH3D19,3_prime_UTR_variant,,ENST00000455740,;SH3D19,3_prime_UTR_variant,,ENST00000409598,;SH3D19,3_prime_UTR_variant,,ENST00000409252,;SH3D19,3_prime_UTR_variant,,ENST00000514152,;SH3D19,3_prime_UTR_variant,,ENST00000427414,;SH3D19,upstream_gene_variant,,ENST00000604922,;SH3D19,non_coding_transcript_exon_variant,,ENST00000478503,;	3629	17	12	SUCCESS
C5orf20	0	.	GRCh37	5	134781945	134781945	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	15	32	0	ENST00000503143.2:c.*119A>G			ENST00000503143	NM_130848.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43365.1	.	MUTECT|MUSE	.	AGAATTCTAAC	NONE	.	.	.	.	.	ENSP00000440509	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000537858	Transcript	.	.	ENSG00000255833	34024	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIFAB_HUMAN	TIFAB	HGNC	.	.	UPI0000603404	SNV	TIFAB,3_prime_UTR_variant,,ENST00000537858,;C5orf20,3_prime_UTR_variant,,ENST00000503143,;CTB-138E5.1,upstream_gene_variant,,ENST00000510230,;	3886	32	60	SUCCESS
PCDHB2	56133	.	GRCh37	5	140480110	140480110	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	11	37	0				ENST00000194155	NM_018936.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4245.1	.	MUTECT|MUSE	.	AAGTCTGAGCC	NONE	.	124	.	.	.	ENSP00000231130	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000231130	Transcript	.	.	ENSG00000113205	8688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDB3_HUMAN	PCDHB3	HGNC	.	.	UPI00001273DD	SNV	PCDHB3,upstream_gene_variant,,ENST00000231130,;PCDHB2,downstream_gene_variant,,ENST00000194155,;AC005754.7,non_coding_transcript_exon_variant,,ENST00000607216,;	.	37	58	SUCCESS
C6orf120	387263	.	GRCh37	6	170104882	170104882	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs757052767	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	44	97	0	ENST00000332290.2:c.*1751T>C			ENST00000332290	NM_001029863.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34575.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTATAGAAA	NONE	.	.	.	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	rs757052767	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,3_prime_UTR_variant,,ENST00000332290,;PHF10,intron_variant,,ENST00000366780,;PHF10,intron_variant,,ENST00000339209,;C6orf120,downstream_gene_variant,,ENST00000439249,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	2626	97	57	SUCCESS
HMGN4	10473	.	GRCh37	6	26545913	26545913	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs563506210	.	TCGA-DD-AADQ-01	TCGA-DD-AADQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	192	162	1	ENST00000377575.2:c.*206A>G			ENST00000377575	NM_006353.2			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS4615.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAATAGGA	NONE	by1000G	.	.	G:0	.	ENSP00000366798	G:0	2/2	.	.	.	.	.	.	.	.	rs563506210	2/2	PASS	ENST00000377575	Transcript	.	G:0.0002	ENSG00000182952	4989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	HMGN4_HUMAN	HMGN4	HGNC	.	.	UPI000013E3BB	SNV	HMGN4,3_prime_UTR_variant,,ENST00000377575,;	656	163	288	SUCCESS
CDK1	983	.	GRCh37	10	62553751	62553751	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	52	291	0	ENST00000395284.3:c.*18T>G			ENST00000395284	NM_001786.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTTCCATA	NONE	.	.	.	.	.	ENSP00000378699	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000395284	Transcript	.	.	ENSG00000170312	1722	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK1_HUMAN	CDK1	HGNC	Q5H9N4_HUMAN,E5RIU6_HUMAN	.	UPI0000035BE1	SNV	CDK1,3_prime_UTR_variant,,ENST00000316629,;CDK1,3_prime_UTR_variant,,ENST00000373809,;CDK1,3_prime_UTR_variant,,ENST00000448257,;CDK1,3_prime_UTR_variant,,ENST00000395284,;CDK1,downstream_gene_variant,,ENST00000519078,;CDK1,downstream_gene_variant,,ENST00000487784,;	1054	291	191	SUCCESS
RUFY2	55680	.	GRCh37	10	70166967	70166967	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	27	0				ENST00000388768	NM_017987.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41534.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTCTCGGG	NONE	.	21	.	.	.	ENSP00000373420	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000388768	Transcript	.	.	ENSG00000204130	19761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUFY2_HUMAN	RUFY2	HGNC	.	.	UPI000046FD20	SNV	RUFY2,5_prime_UTR_variant,,ENST00000399200,;RUFY2,5_prime_UTR_variant,,ENST00000454950,;RUFY2,5_prime_UTR_variant,,ENST00000602465,;RUFY2,5_prime_UTR_variant,,ENST00000342616,;RUFY2,upstream_gene_variant,,ENST00000388768,;RUFY2,non_coding_transcript_exon_variant,,ENST00000472394,;RUFY2,upstream_gene_variant,,ENST00000466493,;	.	27	13	SUCCESS
COMTD1	118881	.	GRCh37	10	76993825	76993825	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs367915917	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	8	64	0	ENST00000372538.3:c.*6G>T			ENST00000372538	NM_144589.2			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS7349.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGGCCAGCC	NONE	byCluster	.	.	.	A:0.0001	ENSP00000361616	.	7/7	.	.	.	.	.	.	.	.	rs367915917	7/7	PASS	ENST00000372538	Transcript	.	.	ENSG00000165644	26309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CMTD1_HUMAN	COMTD1	HGNC	.	.	UPI000000DC5A	SNV	COMTD1,3_prime_UTR_variant,,ENST00000469299,;COMTD1,3_prime_UTR_variant,,ENST00000372538,;VDAC2,downstream_gene_variant,,ENST00000298468,;VDAC2,downstream_gene_variant,,ENST00000332211,;VDAC2,downstream_gene_variant,,ENST00000543351,;VDAC2,downstream_gene_variant,,ENST00000535553,;VDAC2,downstream_gene_variant,,ENST00000313132,;COMTD1,non_coding_transcript_exon_variant,,ENST00000460899,;COMTD1,non_coding_transcript_exon_variant,,ENST00000494596,;COMTD1,non_coding_transcript_exon_variant,,ENST00000470947,;COMTD1,downstream_gene_variant,,ENST00000490521,;COMTD1,downstream_gene_variant,,ENST00000491270,;VDAC2,downstream_gene_variant,,ENST00000460044,;	878	64	47	SUCCESS
MLXIP	22877	.	GRCh37	12	122626473	122626473	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	23	0	ENST00000319080.7:c.*114C>G			ENST00000319080	NM_014938.4_dupl16			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAACTCTGC	NONE	.	.	.	.	.	ENSP00000312834	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000319080	Transcript	.	.	ENSG00000175727	17055	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLXIP_HUMAN	MLXIP	HGNC	F5H321_HUMAN	.	UPI0000D6226F	SNV	MLXIP,3_prime_UTR_variant,,ENST00000538698,;MLXIP,3_prime_UTR_variant,,ENST00000319080,;MLXIP,downstream_gene_variant,,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000366272,;MLXIP,downstream_gene_variant,,ENST00000541750,;	3006	23	16	SUCCESS
IL31	386653	.	GRCh37	12	122656916	122656916	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs139190526	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	6	58	0	ENST00000377035.1:c.*43T>G			ENST00000377035	NM_001014336.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31919.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTAAGGCT	NONE	.	.	.	.	.	ENSP00000366234	.	3/3	.	.	.	.	.	.	.	.	rs139190526	3/3	PASS	ENST00000377035	Transcript	.	.	ENSG00000204671	19372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IL31_HUMAN	IL31	HGNC	.	.	UPI00003BF6FE	SNV	IL31,3_prime_UTR_variant,,ENST00000377035,;LRRC43,intron_variant,,ENST00000537729,;	565	58	56	SUCCESS
METTL3	56339	.	GRCh37	14	21966217	21966217	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	15	0				ENST00000298717	NM_019852.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32043.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATACTGA	NONE	.	.	.	.	.	ENSP00000385102	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000405508	Transcript	.	.	ENSG00000092203	20161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOX4_HUMAN	TOX4	HGNC	.	.	UPI000006EA81	SNV	TOX4,3_prime_UTR_variant,,ENST00000262709,;TOX4,3_prime_UTR_variant,,ENST00000405508,;TOX4,downstream_gene_variant,,ENST00000448790,;METTL3,downstream_gene_variant,,ENST00000298717,;METTL3,downstream_gene_variant,,ENST00000538267,;TOX4,downstream_gene_variant,,ENST00000455393,;TOX4,downstream_gene_variant,,ENST00000476180,;METTL3,downstream_gene_variant,,ENST00000544500,;METTL3,downstream_gene_variant,,ENST00000396522,;METTL3,downstream_gene_variant,,ENST00000539910,;METTL3,downstream_gene_variant,,ENST00000537163,;METTL3,downstream_gene_variant,,ENST00000543235,;METTL3,downstream_gene_variant,,ENST00000544248,;METTL3,downstream_gene_variant,,ENST00000536201,;METTL3,downstream_gene_variant,,ENST00000539760,;METTL3,downstream_gene_variant,,ENST00000542054,;	3595	15	15	SUCCESS
MOV10L1	54456	.	GRCh37	22	50599978	50599978	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	9	51	0	ENST00000262794.5:c.*100C>T			ENST00000262794	NM_018995.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14084.1	.	MUTECT|MUSE	.	GCAGCCAGGCA	NONE	.	.	.	.	.	ENSP00000262794	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000262794	Transcript	.	.	ENSG00000073146	7201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	M10L1_HUMAN	MOV10L1	HGNC	.	.	UPI00000421FB	SNV	MOV10L1,3_prime_UTR_variant,,ENST00000540615,;MOV10L1,3_prime_UTR_variant,,ENST00000545383,;MOV10L1,3_prime_UTR_variant,,ENST00000395852,;MOV10L1,3_prime_UTR_variant,,ENST00000262794,;MOV10L1,3_prime_UTR_variant,,ENST00000395858,;MOV10L1,downstream_gene_variant,,ENST00000395843,;MOV10L1,downstream_gene_variant,,ENST00000354853,;	3819	51	34	SUCCESS
SOWAHC	65124	.	GRCh37	2	110374337	110374337	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	69	224	0	ENST00000356454.3:c.*693T>A			ENST00000356454	NM_023016.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33270.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTATCTCTA	NONE	.	.	.	.	.	ENSP00000365830	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356454	Transcript	.	.	ENSG00000198142	26149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SWAHC_HUMAN	SOWAHC	HGNC	.	.	UPI0000208A9B	SNV	SOWAHC,3_prime_UTR_variant,,ENST00000356454,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000545389,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000397712,;SEPT10,upstream_gene_variant,,ENST00000334001,;SEPT10,upstream_gene_variant,,ENST00000397714,;SEPT10,upstream_gene_variant,,ENST00000356688,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	2427	224	186	SUCCESS
FKBP7	51661	.	GRCh37	2	179330339	179330339	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	22	0	ENST00000424785.2:c.*158T>C			ENST00000424785	NM_001135212.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2280.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAAACAGCC	NONE	.	.	.	.	.	ENSP00000413152	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000424785	Transcript	.	.	ENSG00000079150	3723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKBP7_HUMAN	FKBP7	HGNC	.	.	UPI000002A9BC	SNV	FKBP7,3_prime_UTR_variant,,ENST00000424785,;DFNB59,downstream_gene_variant,,ENST00000442710,;FKBP7,downstream_gene_variant,,ENST00000434643,;DFNB59,downstream_gene_variant,,ENST00000375129,;DFNB59,downstream_gene_variant,,ENST00000409117,;FKBP7,non_coding_transcript_exon_variant,,ENST00000464248,;FKBP7,downstream_gene_variant,,ENST00000470945,;FKBP7,3_prime_UTR_variant,,ENST00000233092,;FKBP7,downstream_gene_variant,,ENST00000412612,;FKBP7,downstream_gene_variant,,ENST00000419184,;DFNB59,downstream_gene_variant,,ENST00000437056,;FKBP7,downstream_gene_variant,,ENST00000435079,;	886	22	19	SUCCESS
METTL21A	151194	.	GRCh37	2	208477647	208477647	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	39	0	ENST00000406927.2:c.*123G>A			ENST00000406927				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2376.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCTCCCCTG	NONE	.	.	.	.	.	ENSP00000415115	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000411432	Transcript	.	.	ENSG00000144401	30476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MT21A_HUMAN	METTL21A	HGNC	.	.	UPI000013D97D	SNV	METTL21A,3_prime_UTR_variant,,ENST00000411432,;METTL21A,3_prime_UTR_variant,,ENST00000448823,;METTL21A,3_prime_UTR_variant,,ENST00000448007,;METTL21A,3_prime_UTR_variant,,ENST00000406927,;METTL21A,3_prime_UTR_variant,,ENST00000426075,;METTL21A,3_prime_UTR_variant,,ENST00000272839,;METTL21A,intron_variant,,ENST00000425132,;METTL21A,intron_variant,,ENST00000432416,;METTL21A,intron_variant,,ENST00000458426,;METTL21A,downstream_gene_variant,,ENST00000442521,;METTL21A,non_coding_transcript_exon_variant,,ENST00000477919,;METTL21A,downstream_gene_variant,,ENST00000461419,;	997	39	25	SUCCESS
ACAD9	28976	.	GRCh37	3	128631606	128631606	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs375296800	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	20	0	ENST00000308982.7:c.*156C>G			ENST00000308982	NM_014049.4			0	T:0	.	.	.	.	G	.	protein_coding	YES	CCDS3053.1	.	MUTECT|MUSE	.	AGAGCCTCTTC	NONE	byFrequency|byCluster	.	.	.	T:0.0003	ENSP00000312618	.	18/18	.	.	.	.	.	.	.	.	rs375296800	18/18	PASS	ENST00000308982	Transcript	.	.	ENSG00000177646	21497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACAD9_HUMAN	ACAD9	HGNC	Q9H9W4_HUMAN,Q9BUX5_HUMAN,H0Y8Z9_HUMAN	.	UPI00000498C3	SNV	ACAD9,3_prime_UTR_variant,,ENST00000308982,;KIAA1257,intron_variant,,ENST00000511438,;RP11-723O4.6,intron_variant,,ENST00000508239,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511526,;ACAD9,3_prime_UTR_variant,,ENST00000505867,;ACAD9,3_prime_UTR_variant,,ENST00000511227,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511325,;ACAD9,intron_variant,,ENST00000508971,;ACAD9,downstream_gene_variant,,ENST00000505192,;	2103	20	15	SUCCESS
HS3ST1	9957	.	GRCh37	4	11400676	11400676	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	17	57	0	ENST00000002596.5:c.*30C>G			ENST00000002596	NM_005114.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTAGGAAAG	NONE	.	.	.	.	.	ENSP00000002596	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000002596	Transcript	.	.	ENSG00000002587	5194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS3S1_HUMAN	HS3ST1	HGNC	Q05CH3_HUMAN,E9PDE3_HUMAN	.	UPI0000072A23	SNV	HS3ST1,3_prime_UTR_variant,,ENST00000002596,;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	2129	57	48	SUCCESS
NPY2R	4887	.	GRCh37	4	156136959	156136959	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs570148100	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	97	0	ENST00000329476.3:c.*722C>G			ENST00000329476	NM_000910.2			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS3791.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAACCATCA	NONE	by1000G	.	.	T:0	.	ENSP00000332591	T:0	2/2	.	.	.	.	.	.	.	.	rs570148100	2/2	PASS	ENST00000329476	Transcript	.	T:0.0002	ENSG00000185149	7957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,3_prime_UTR_variant,,ENST00000506608,;NPY2R,3_prime_UTR_variant,,ENST00000329476,;	2357	97	66	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73148748	73148748	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	12	0	ENST00000286657.4:c.*105C>A			ENST00000286657	NM_014243.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3553.1	.	RADIA|MUTECT|MUSE	.	AATGAGCTGAC	NONE	.	.	.	.	.	ENSP00000286657	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,3_prime_UTR_variant,,ENST00000286657,;	3760	12	13	SUCCESS
ANXA3	306	.	GRCh37	4	79531270	79531270	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	35	108	0	ENST00000264908.6:c.*1A>G			ENST00000264908	NM_005139.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3584.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAACCAAG	NONE	.	.	.	.	.	ENSP00000264908	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000264908	Transcript	.	.	ENSG00000138772	541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANXA3_HUMAN	ANXA3	HGNC	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN	.	UPI0000110519	SNV	ANXA3,3_prime_UTR_variant,,ENST00000503570,;ANXA3,3_prime_UTR_variant,,ENST00000512884,;ANXA3,3_prime_UTR_variant,,ENST00000264908,;ANXA3,non_coding_transcript_exon_variant,,ENST00000503776,;ANXA3,non_coding_transcript_exon_variant,,ENST00000505805,;	1352	108	72	SUCCESS
FOXD1	2297	.	GRCh37	5	72742744	72742744	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	20	80	0	ENST00000499003.3:c.*64C>T			ENST00000499003	NM_004472.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAAGGAGCC	NONE	.	.	.	.	.	ENSP00000462795	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000499003	Transcript	.	.	ENSG00000251493	3802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FOXD1	HGNC	J3KT45_HUMAN	.	UPI000268B492	SNV	FOXD1,3_prime_UTR_variant,,ENST00000499003,;RP11-79P5.2,intron_variant,,ENST00000514661,;RP11-79P5.7,upstream_gene_variant,,ENST00000512310,;FOXD1,intron_variant,,ENST00000513595,;AC099522.1,non_coding_transcript_exon_variant,,ENST00000328926,;	1609	80	64	SUCCESS
CDK6	1021	.	GRCh37	7	92244266	92244266	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADR-01	TCGA-DD-AADR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	29	0	ENST00000265734.4:c.*188G>A			ENST00000265734	NM_001259.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5628.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAATCACTCT	NONE	.	.	.	.	.	ENSP00000265734	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265734	Transcript	.	.	ENSG00000105810	1777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK6_HUMAN	CDK6	HGNC	A4D1G0_HUMAN	.	UPI00001108FA	SNV	CDK6,3_prime_UTR_variant,,ENST00000265734,;CDK6,downstream_gene_variant,,ENST00000424848,;CDK6,non_coding_transcript_exon_variant,,ENST00000467166,;	1581	29	23	SUCCESS
SOCS4	122809	.	GRCh37	14	55516164	55516165	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	199	66	125	0	ENST00000339298.2:c.*5086dup			ENST00000339298				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9722.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GATAAATTTTC	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	insertion	SOCS4,3_prime_UTR_variant,,ENST00000339298,;SOCS4,3_prime_UTR_variant,,ENST00000395472,;MAPK1IP1L,upstream_gene_variant,,ENST00000395468,;SOCS4,downstream_gene_variant,,ENST00000555846,;MAPK1IP1L,upstream_gene_variant,,ENST00000554364,;MAPK1IP1L,upstream_gene_variant,,ENST00000556515,;	6737-6738	125	265	SUCCESS
CTXN2	399697	.	GRCh37	15	48495677	48495677	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	102	50	117	0	ENST00000417307.2:c.*1934C>A			ENST00000417307	NM_001145668.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGTGCCAGGA	NONE	.	.	.	.	.	ENSP00000406145	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417307	Transcript	.	.	ENSG00000233932	31109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTXN2_HUMAN	CTXN2	HGNC	.	.	UPI00005A8DAF	SNV	CTXN2,3_prime_UTR_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000330289,;SLC12A1,upstream_gene_variant,,ENST00000380993,;CTXN2,downstream_gene_variant,,ENST00000541248,;SLC12A1,upstream_gene_variant,,ENST00000396577,;SLC12A1,upstream_gene_variant,,ENST00000558405,;SLC12A1,upstream_gene_variant,,ENST00000561031,;RP11-605F22.1,upstream_gene_variant,,ENST00000559875,;SLC12A1,intron_variant,,ENST00000561127,;	2552	117	152	SUCCESS
HERC1	8925	.	GRCh37	15	63901193	63901193	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	14	30	0	ENST00000443617.2:c.*87A>T			ENST00000443617	NM_003922.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45277.1	.	MUTECT|MUSE	.	ACATCTATGTA	NONE	.	.	.	.	.	ENSP00000390158	.	78/78	.	.	.	.	.	.	.	.	.	78/78	PASS	ENST00000443617	Transcript	.	.	ENSG00000103657	4867	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HERC1_HUMAN	HERC1	HGNC	H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN	.	UPI0000212760	SNV	HERC1,3_prime_UTR_variant,,ENST00000443617,;	14761	30	49	SUCCESS
FAH	2184	.	GRCh37	15	80478641	80478641	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1042085003	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	23	0	ENST00000261755.5:c.*90G>A			ENST00000261755				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10314.1	.	MUTECT|MUSE	.	GGTCCGCCATT	NONE	.	.	.	.	.	ENSP00000385080	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000407106	Transcript	1	.	ENSG00000103876	3579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FAAA_HUMAN	FAH	HGNC	Q53XA7_HUMAN,H0YLC7_HUMAN	.	UPI000012A422	SNV	FAH,3_prime_UTR_variant,,ENST00000407106,;FAH,3_prime_UTR_variant,,ENST00000539156,;FAH,3_prime_UTR_variant,,ENST00000561421,;FAH,3_prime_UTR_variant,,ENST00000261755,;FAH,non_coding_transcript_exon_variant,,ENST00000559217,;	1505	23	31	SUCCESS
RRN3P2	653390	.	GRCh37	16	29127841	29127841	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs1202435008	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	6	14	0				ENST00000427965				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	MUTECT|MUSE	.	GATGACCTGAA	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000562902	Transcript	.	.	ENSG00000260517	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-426C22.5	Clone_based_vega_gene	.	.	.	SNV	RP11-426C22.5,intron_variant,,ENST00000562902,;RRN3P2,non_coding_transcript_exon_variant,,ENST00000564580,;RRN3P2,downstream_gene_variant,,ENST00000427965,;	.	14	19	SUCCESS
SETBP1	26040	.	GRCh37	18	42643752	42643752	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs953734622	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	77	177	0	ENST00000282030.5:c.*89A>G			ENST00000282030	NM_015559.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11923.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAGGGAC	NONE	.	.	.	.	.	ENSP00000282030	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000282030	Transcript	.	.	ENSG00000152217	15573	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SETBP_HUMAN	SETBP1	HGNC	K7ES17_HUMAN	.	UPI0000201C54	SNV	SETBP1,3_prime_UTR_variant,,ENST00000282030,;	5176	177	212	SUCCESS
C19orf38	255809	.	GRCh37	19	10980141	10980141	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	16	0	ENST00000397820.4:c.*98A>T			ENST00000397820	NM_001136482.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45970.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGAATTGG	NONE	.	.	.	.	.	ENSP00000380920	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000397820	Transcript	.	.	ENSG00000214212	34073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIDE1_HUMAN	C19orf38	HGNC	.	.	UPI0000160991	SNV	C19orf38,3_prime_UTR_variant,,ENST00000397820,;C19orf38,3_prime_UTR_variant,,ENST00000592854,;CARM1,upstream_gene_variant,,ENST00000327064,;CARM1,upstream_gene_variant,,ENST00000588947,;CARM1,upstream_gene_variant,,ENST00000344150,;CARM1,upstream_gene_variant,,ENST00000586221,;CARM1,upstream_gene_variant,,ENST00000590699,;CARM1,upstream_gene_variant,,ENST00000589693,;CARM1,upstream_gene_variant,,ENST00000590039,;	898	16	21	SUCCESS
SPAG17	200162	.	GRCh37	1	118496504	118496504	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs767940516	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	20	0	ENST00000336338.5:c.*169C>G			ENST00000336338	NM_206996.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS899.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCGCACGT	NONE	.	.	.	.	.	ENSP00000337804	.	49/49	.	.	.	.	.	.	.	.	rs767940516	49/49	PASS	ENST00000336338	Transcript	.	.	ENSG00000155761	26620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPG17_HUMAN	SPAG17	HGNC	A7LBF9_HUMAN	.	UPI00001601FD	SNV	SPAG17,3_prime_UTR_variant,,ENST00000336338,;WDR3,intron_variant,,ENST00000349139,;SPAG17,non_coding_transcript_exon_variant,,ENST00000469128,;SPAG17,non_coding_transcript_exon_variant,,ENST00000466857,;SPAG17,non_coding_transcript_exon_variant,,ENST00000478697,;	6907	20	24	SUCCESS
KPRP	448834	.	GRCh37	1	152734084	152734084	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	132	8	69	0	ENST00000606109.1:c.*280C>G			ENST00000606109				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30862.1	.	MUTECT|MUSE	.	CCATACTTTAG	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,3_prime_UTR_variant,,ENST00000368773,;KPRP,3_prime_UTR_variant,,ENST00000606109,;	2078	69	140	SUCCESS
DSCAM	1826	.	GRCh37	21	41384846	41384846	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs538162244	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	23	0	ENST00000400454.1:c.*115A>T			ENST00000400454	NM_001271534.1			0	.	A:0.003	.	A:0.0014	.	A	.	protein_coding	YES	CCDS42929.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTAATAT	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000383303	A:0.005	33/33	.	.	.	.	.	.	.	.	rs538162244	33/33	PASS	ENST00000400454	Transcript	.	A:0.0020	ENSG00000171587	3039	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	DSCAM_HUMAN	DSCAM	HGNC	.	.	UPI00000422DF	SNV	DSCAM,3_prime_UTR_variant,,ENST00000404019,;DSCAM,3_prime_UTR_variant,,ENST00000400454,;	6632	23	34	SUCCESS
METTL8	79828	.	GRCh37	2	172180555	172180555	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	18	0	ENST00000392604.2:c.*368A>T			ENST00000392604				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACCTATGAC	NONE	.	.	.	.	.	ENSP00000364407	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000375258	Transcript	.	.	ENSG00000123600	25856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	METTL8	HGNC	E7ETE0_HUMAN,C9JE69_HUMAN,C9J6U8_HUMAN,C9J3F1_HUMAN,B3KW44_HUMAN	.	UPI0000D4CA51	SNV	METTL8,3_prime_UTR_variant,,ENST00000438609,;METTL8,3_prime_UTR_variant,,ENST00000375258,;METTL8,non_coding_transcript_exon_variant,,ENST00000463392,;METTL8,non_coding_transcript_exon_variant,,ENST00000477130,;METTL8,downstream_gene_variant,,ENST00000460188,;METTL8,3_prime_UTR_variant,,ENST00000392604,;METTL8,3_prime_UTR_variant,,ENST00000447486,;METTL8,non_coding_transcript_exon_variant,,ENST00000464491,;METTL8,non_coding_transcript_exon_variant,,ENST00000483284,;METTL8,downstream_gene_variant,,ENST00000470773,;	1567	18	28	SUCCESS
MOB4	25843	.	GRCh37	2	198415422	198415422	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	42	84	0	ENST00000323303.4:c.*52A>T			ENST00000323303	NM_015387.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS63079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTATATAT	NONE	.	.	.	.	.	ENSP00000474534	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000604458	Transcript	.	.	ENSG00000270757	49184	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSPE1-MOB4	HGNC	S4R3N1_HUMAN,B4DM50_HUMAN	.	UPI0001F76FA6	SNV	HSPE1-MOB4,3_prime_UTR_variant,,ENST00000604458,;MOB4,3_prime_UTR_variant,,ENST00000233892,;MOB4,3_prime_UTR_variant,,ENST00000409360,;MOB4,3_prime_UTR_variant,,ENST00000409916,;MOB4,3_prime_UTR_variant,,ENST00000448447,;MOB4,3_prime_UTR_variant,,ENST00000323303,;MOB4,non_coding_transcript_exon_variant,,ENST00000497443,;MOB4,3_prime_UTR_variant,,ENST00000417097,;MOB4,3_prime_UTR_variant,,ENST00000409355,;	862	84	141	SUCCESS
WDR49	151790	.	GRCh37	3	167196576	167196576	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	8	25	0	ENST00000308378.3:c.*90A>T			ENST00000308378	NM_178824.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3201.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATATAAA	NONE	.	.	.	.	.	ENSP00000311343	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000308378	Transcript	.	.	ENSG00000174776	26587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR49_HUMAN	WDR49	HGNC	.	.	UPI00000746AD	SNV	WDR49,3_prime_UTR_variant,,ENST00000472600,;WDR49,3_prime_UTR_variant,,ENST00000453925,;WDR49,3_prime_UTR_variant,,ENST00000308378,;WDR49,3_prime_UTR_variant,,ENST00000476376,;WDR49,3_prime_UTR_variant,,ENST00000479765,;SERPINI2,intron_variant,,ENST00000476257,;SERPINI2,upstream_gene_variant,,ENST00000466903,;SERPINI2,upstream_gene_variant,,ENST00000264677,;SERPINI2,upstream_gene_variant,,ENST00000461846,;	2490	25	29	SUCCESS
SLMAP	7871	.	GRCh37	3	57913140	57913140	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs371666554	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	23	52	0	ENST00000428312.1:c.*25G>A			ENST00000428312				0	A:0.0002	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS33774.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACCGTCCTC	NONE	byCluster|by1000G	.	.	A:0	A:0	ENSP00000295951	A:0	22/22	.	.	.	.	.	.	.	.	rs371666554	22/22	PASS	ENST00000295951	Transcript	.	A:0.0002	ENSG00000163681	16643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	SLMAP_HUMAN	SLMAP	HGNC	C9JA20_HUMAN,B7Z964_HUMAN	.	UPI000022C0E3	SNV	SLMAP,3_prime_UTR_variant,,ENST00000494088,;SLMAP,3_prime_UTR_variant,,ENST00000449503,;SLMAP,3_prime_UTR_variant,,ENST00000460223,;SLMAP,3_prime_UTR_variant,,ENST00000495364,;SLMAP,3_prime_UTR_variant,,ENST00000416658,;SLMAP,3_prime_UTR_variant,,ENST00000428312,;SLMAP,3_prime_UTR_variant,,ENST00000417128,;SLMAP,3_prime_UTR_variant,,ENST00000442599,;SLMAP,3_prime_UTR_variant,,ENST00000295951,;SLMAP,3_prime_UTR_variant,,ENST00000295952,;SLMAP,downstream_gene_variant,,ENST00000497084,;	3678	52	67	SUCCESS
EOGT	285203	.	GRCh37	3	69026708	69026708	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	26	54	0	ENST00000383701.3:c.*61T>G			ENST00000383701	NM_001278689.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2908.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAATTCTA	NONE	.	.	.	.	.	ENSP00000295571	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000295571	Transcript	.	.	ENSG00000163378	28526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EOGT_HUMAN	EOGT	HGNC	F5H225_HUMAN,C9JQM7_HUMAN,C9J4G5_HUMAN	.	UPI00002132FF	SNV	EOGT,3_prime_UTR_variant,,ENST00000540955,;EOGT,3_prime_UTR_variant,,ENST00000540764,;EOGT,3_prime_UTR_variant,,ENST00000383701,;EOGT,3_prime_UTR_variant,,ENST00000295571,;EOGT,3_prime_UTR_variant,,ENST00000403140,;EOGT,non_coding_transcript_exon_variant,,ENST00000496647,;	1798	54	77	SUCCESS
GIN1	54826	.	GRCh37	5	102423457	102423457	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	8	0	ENST00000399004.2:c.*145A>C			ENST00000399004	NM_017676.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43349.1	.	MUTECT|MUSE	.	TAATTTTAGAT	NONE	.	.	.	.	.	ENSP00000381970	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000399004	Transcript	.	.	ENSG00000145723	25959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GIN1_HUMAN	GIN1	HGNC	.	.	UPI000020C3A9	SNV	GIN1,3_prime_UTR_variant,,ENST00000399004,;GIN1,downstream_gene_variant,,ENST00000508629,;GIN1,downstream_gene_variant,,ENST00000507478,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,downstream_gene_variant,,ENST00000513747,;	1809	8	12	SUCCESS
PCDHB8	56128	.	GRCh37	5	140564018	140564018	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs146665935	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	17	45	0				ENST00000239444	NM_019120.3	628		0	A:0.0002	.	.	.	.	T	R/S	protein_coding	YES	CCDS4251.1	1884	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAGGCTGCT	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	A:0.0002	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	rs146665935	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.792)	.	deleterious_low_confidence(0)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Arg628Ser,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	3039	45	60	SUCCESS
BASP1	10409	.	GRCh37	5	17276788	17276788	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	47	87	6	ENST00000322611.3:c.*779C>T			ENST00000322611	NM_006317.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3888.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCTCTTC	NONE	.	.	.	.	.	ENSP00000319281	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322611	Transcript	.	.	ENSG00000176788	957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BASP1_HUMAN	BASP1	HGNC	U3KQP0_HUMAN	.	UPI0000140E98	SNV	BASP1,3_prime_UTR_variant,,ENST00000322611,;BASP1,downstream_gene_variant,,ENST00000606445,;	1723	93	119	SUCCESS
GPR126	0	.	GRCh37	6	142764671	142764671	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1183458808	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	131	21	108	0	ENST00000230173.6:c.*152A>G			ENST00000230173	NM_020455.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47489.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAAATCAAT	NONE	.	.	.	.	.	ENSP00000356581	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000367609	Transcript	.	.	ENSG00000112414	13841	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GP126_HUMAN	GPR126	HGNC	F5H2L1_HUMAN	.	UPI000022CCE4	SNV	GPR126,3_prime_UTR_variant,,ENST00000367609,;GPR126,3_prime_UTR_variant,,ENST00000296932,;GPR126,3_prime_UTR_variant,,ENST00000367608,;GPR126,3_prime_UTR_variant,,ENST00000230173,;GPR126,non_coding_transcript_exon_variant,,ENST00000497898,;GPR126,non_coding_transcript_exon_variant,,ENST00000472054,;	4173	108	153	SUCCESS
AKR1B10	57016	.	GRCh37	7	134225865	134225865	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1180259161	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	37	0	ENST00000359579.4:c.*24T>C			ENST00000359579	NM_020299.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5832.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATTATACAGG	NONE	.	.	.	.	.	ENSP00000352584	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000359579	Transcript	.	.	ENSG00000198074	382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AK1BA_HUMAN	AKR1B10	HGNC	.	.	UPI00000362E9	SNV	AKR1B10,3_prime_UTR_variant,,ENST00000359579,;AKR1B10,non_coding_transcript_exon_variant,,ENST00000498818,;AKR1B10,non_coding_transcript_exon_variant,,ENST00000496435,;AKR1B10,downstream_gene_variant,,ENST00000475559,;	1295	37	44	SUCCESS
ZBTB43	23099	.	GRCh37	9	129596900	129596900	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	27	53	0	ENST00000373457.1:c.*708C>T			ENST00000373457				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTTCTAACA	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	2376	53	74	SUCCESS
MOSPD1	56180	.	GRCh37	X	134023045	134023045	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADS-01	TCGA-DD-AADS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	88	88	0	ENST00000370783.3:c.*146T>G			ENST00000370783	NM_019556.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14645.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATTATAATTTA	NONE	.	.	.	.	.	ENSP00000359819	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000370783	Transcript	.	.	ENSG00000101928	25235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MSPD1_HUMAN	MOSPD1	HGNC	.	.	UPI000006E909	SNV	MOSPD1,3_prime_UTR_variant,,ENST00000370779,;MOSPD1,3_prime_UTR_variant,,ENST00000370783,;MOSPD1,downstream_gene_variant,,ENST00000370777,;MOSPD1,non_coding_transcript_exon_variant,,ENST00000491609,;MOSPD1,downstream_gene_variant,,ENST00000480721,;	975	88	126	SUCCESS
MLLT10	8028	.	GRCh37	10	22031033	22031033	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	12	54	0	ENST00000307729.7:c.*121G>A			ENST00000307729				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55708.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGATTAA	NONE	.	.	.	.	.	ENSP00000307411	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000307729	Transcript	1	.	ENSG00000078403	16063	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AF10_HUMAN	MLLT10	HGNC	Q71UR7_HUMAN,B4DVS6_HUMAN	.	UPI00001F8FF7	SNV	MLLT10,3_prime_UTR_variant,,ENST00000446906,;MLLT10,3_prime_UTR_variant,,ENST00000377059,;MLLT10,3_prime_UTR_variant,,ENST00000307729,;MLLT10,3_prime_UTR_variant,,ENST00000377072,;	3506	54	36	SUCCESS
HYLS1	219844	.	GRCh37	11	125770212	125770212	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	96	0	ENST00000356438.3:c.*49T>G			ENST00000356438	NM_145014.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8467.1	.	MUTECT|MUSE	.	CTCTTTATATC	NONE	.	.	.	.	.	ENSP00000414884	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000425380	Transcript	.	.	ENSG00000198331	26558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYLS1_HUMAN	HYLS1	HGNC	.	.	UPI000006DF2D	SNV	HYLS1,3_prime_UTR_variant,,ENST00000356438,;HYLS1,3_prime_UTR_variant,,ENST00000425380,;HYLS1,3_prime_UTR_variant,,ENST00000526028,;PUS3,intron_variant,,ENST00000227474,;PUS3,intron_variant,,ENST00000529801,;PUS3,intron_variant,,ENST00000534158,;DDX25,upstream_gene_variant,,ENST00000530414,;PUS3,upstream_gene_variant,,ENST00000530811,;DDX25,upstream_gene_variant,,ENST00000530129,;DDX25,upstream_gene_variant,,ENST00000263576,;RP11-680F20.9,downstream_gene_variant,,ENST00000533033,;DDX25,upstream_gene_variant,,ENST00000525943,;	1730	96	76	SUCCESS
ESRRB	2103	.	GRCh37	14	76967237	76967237	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	18	0	ENST00000380887.2:c.*173A>T			ENST00000380887				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9850.2	.	RADIA|MUTECT|MUSE	.	ATCACAACAGG	NONE	.	.	.	.	.	ENSP00000370270	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000380887	Transcript	.	.	ENSG00000119715	3473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ERR2_HUMAN	ESRRB	HGNC	Q9HCB2_HUMAN	.	UPI000003157B	SNV	ESRRB,3_prime_UTR_variant,,ENST00000509242,;ESRRB,3_prime_UTR_variant,,ENST00000380887,;ESRRB,downstream_gene_variant,,ENST00000512784,;ESRRB,downstream_gene_variant,,ENST00000261532,;ESRRB,downstream_gene_variant,,ENST00000556177,;RP11-187O7.3,intron_variant,,ENST00000554926,;ESRRB,downstream_gene_variant,,ENST00000505752,;	1772	18	9	SUCCESS
HAS3	3038	.	GRCh37	16	69152319	69152344	+	downstream_gene_variant	3'Flank	DEL	CGGAAGCATGGTCCGTTCACCAACGC	CGGAAGCATGGTCCGTTCACCAACGC	-	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	CGGAAGCATGGTCCGTTCACCAACGC	CGGAAGCATGGTCCGTTCACCAACGC	.	.	.	.	.	.	.	.	.	.	.	.	.	46	52	110	0				ENST00000306560	NM_005329.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10871.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGCTACGGAAGCATGGTCCGTTCACCAACGCCACGT	NONE	.	748	.	.	.	ENSP00000304440	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306560	Transcript	.	.	ENSG00000103044	4820	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HYAS3_HUMAN	HAS3	HGNC	H3BRH5_HUMAN,C0KZD9_HUMAN	.	UPI000013EB57	deletion	HAS3,frameshift_variant,p.Glu268ArgfsTer3,ENST00000219322,;CHTF8,3_prime_UTR_variant,,ENST00000448552,;CHTF8,3_prime_UTR_variant,,ENST00000518041,;CHTF8,3_prime_UTR_variant,,ENST00000523421,;CHTF8,3_prime_UTR_variant,,ENST00000306585,;HAS3,downstream_gene_variant,,ENST00000566118,;CHTF8,downstream_gene_variant,,ENST00000519520,;CHTF8,downstream_gene_variant,,ENST00000567763,;HAS3,downstream_gene_variant,,ENST00000569188,;CHTF8,downstream_gene_variant,,ENST00000520529,;HAS3,downstream_gene_variant,,ENST00000306560,;CHTF8,downstream_gene_variant,,ENST00000522091,;CHTF8,downstream_gene_variant,,ENST00000522497,;CHTF8,downstream_gene_variant,,ENST00000398235,;CHTF8,downstream_gene_variant,,ENST00000574807,;CHTF8,3_prime_UTR_variant,,ENST00000519534,;	.	110	98	SUCCESS
CCL3	6348	.	GRCh37	17	34415819	34415819	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1049191	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	25	56	0	ENST00000225245.5:c.*199C>T			ENST00000225245	NM_002983.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11307.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAATCGAAAAT	NONE	.	.	.	.	.	ENSP00000225245	.	3/3	.	.	.	.	.	.	.	.	rs1049191	3/3	PASS	ENST00000225245	Transcript	.	.	ENSG00000006075	10627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCL3_HUMAN	CCL3	HGNC	A0N0R1_HUMAN	.	UPI00001362C9	SNV	CCL3,3_prime_UTR_variant,,ENST00000225245,;AC069363.1,non_coding_transcript_exon_variant,,ENST00000592728,;AC069363.1,intron_variant,,ENST00000441575,;AC069363.1,intron_variant,,ENST00000590992,;CCL3,non_coding_transcript_exon_variant,,ENST00000470334,;CCL3,non_coding_transcript_exon_variant,,ENST00000585830,;	561	56	45	SUCCESS
KRT14	3861	.	GRCh37	17	39738663	39738663	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	20	33	0	ENST00000167586.6:c.*24T>A			ENST00000167586	NM_000526.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11400.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCCTAGGCCT	NONE	.	.	.	.	.	ENSP00000167586	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000167586	Transcript	.	.	ENSG00000186847	6416	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K1C14_HUMAN	KRT14	HGNC	K7ENV3_HUMAN	.	UPI00001AE5AA	SNV	KRT14,3_prime_UTR_variant,,ENST00000167586,;KRT14,non_coding_transcript_exon_variant,,ENST00000441550,;KRT14,downstream_gene_variant,,ENST00000476662,;	1530	33	31	SUCCESS
HOXB9	3219	.	GRCh37	17	46700180	46700180	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	24	0	ENST00000311177.5:c.*82C>A			ENST00000311177	NM_024017.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11534.1	.	MUTECT|MUSE	.	TCCCAGACAGC	NONE	.	.	.	.	.	ENSP00000309439	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311177	Transcript	.	.	ENSG00000170689	5120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXB9_HUMAN	HOXB9	HGNC	.	.	UPI000012CF66	SNV	HOXB9,3_prime_UTR_variant,,ENST00000311177,;HOXB9,3_prime_UTR_variant,,ENST00000550387,;HOXB7,intron_variant,,ENST00000567101,;	1043	24	24	SUCCESS
KCTD11	147040	.	GRCh37	17	7257214	7257214	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	26	129	0	ENST00000333751.3:c.*254C>A			ENST00000333751	NM_001002914.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32545.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGCACCTC	NONE	.	.	.	.	.	ENSP00000328352	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333751	Transcript	.	.	ENSG00000213859	21302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCD11_HUMAN	KCTD11	HGNC	.	.	UPI00001A82F7	SNV	KCTD11,3_prime_UTR_variant,,ENST00000333751,;ACAP1,downstream_gene_variant,,ENST00000574499,;ACAP1,downstream_gene_variant,,ENST00000571471,;ACAP1,downstream_gene_variant,,ENST00000158762,;TMEM95,upstream_gene_variant,,ENST00000576060,;ACAP1,downstream_gene_variant,,ENST00000575415,;TMEM95,upstream_gene_variant,,ENST00000389982,;ACAP1,downstream_gene_variant,,ENST00000570504,;TMEM95,upstream_gene_variant,,ENST00000330767,;RP11-542C16.1,intron_variant,,ENST00000572417,;KCTD11,downstream_gene_variant,,ENST00000576980,;ACAP1,downstream_gene_variant,,ENST00000570439,;	2007	129	77	SUCCESS
RNU6-721P	106481774	.	GRCh37	18	15325684	15325684	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	22	0				ENST00000410155				0	.	.	.	.	.	T	.	snRNA	YES	.	.	RADIA|MUTECT|MUSE	.	ACCAGAATCTA	NONE	.	4741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410155	Transcript	.	.	ENSG00000222087	47684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RNU6-721P	HGNC	.	.	.	SNV	RNU6-721P,upstream_gene_variant,,ENST00000410155,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000504516,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000455308,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000333851,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000508721,;	.	22	11	SUCCESS
SYT11	23208	.	GRCh37	1	155851401	155851401	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	71	64	0	ENST00000368324.4:c.*102A>T			ENST00000368324	NM_152280.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1122.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGTAGAAGA	NONE	.	.	.	.	.	ENSP00000357307	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000368324	Transcript	.	.	ENSG00000132718	19239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT11_HUMAN	SYT11	HGNC	B4DK40_HUMAN	.	UPI00002049CC	SNV	SYT11,3_prime_UTR_variant,,ENST00000539162,;SYT11,3_prime_UTR_variant,,ENST00000368324,;	1651	64	89	SUCCESS
PEX19	5824	.	GRCh37	1	160249278	160249278	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs550487837	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	17	57	0	ENST00000368072.5:c.*63T>G			ENST00000368072	NM_001193644.1			0	.	G:0.0023	.	G:0.0014	.	C	.	protein_coding	YES	CCDS1201.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCCAATGGTT	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000357051	G:0	8/8	.	.	.	.	.	.	.	.	rs550487837	8/8	PASS	ENST00000368072	Transcript	.	G:0.0008	ENSG00000162735	9713	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PEX19_HUMAN	PEX19	HGNC	B7Z6I5_HUMAN	.	UPI0000132BAD	SNV	PEX19,3_prime_UTR_variant,,ENST00000368072,;PEX19,3_prime_UTR_variant,,ENST00000440949,;PEX19,3_prime_UTR_variant,,ENST00000495624,;DCAF8,intron_variant,,ENST00000556710,;DCAF8,intron_variant,,ENST00000608310,;DCAF8,intron_variant,,ENST00000485079,;PEX19,downstream_gene_variant,,ENST00000392220,;PEX19,non_coding_transcript_exon_variant,,ENST00000532508,;PEX19,intron_variant,,ENST00000467711,;PEX19,downstream_gene_variant,,ENST00000533104,;PEX19,downstream_gene_variant,,ENST00000533699,;PEX19,3_prime_UTR_variant,,ENST00000462644,;PEX19,3_prime_UTR_variant,,ENST00000472750,;PEX19,downstream_gene_variant,,ENST00000524939,;PEX19,downstream_gene_variant,,ENST00000532516,;PEX19,downstream_gene_variant,,ENST00000532643,;	985	57	73	SUCCESS
REG3G	130120	.	GRCh37	2	79255484	79255484	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	19	0	ENST00000272324.5:c.*82A>T			ENST00000272324	NM_001008387.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1962.1	.	MUTECT|MUSE	.	GGAAGAGAATA	NONE	.	.	.	.	.	ENSP00000272324	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000272324	Transcript	.	.	ENSG00000143954	29595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REG3G_HUMAN	REG3G	HGNC	.	.	UPI0000048F1E	SNV	REG3G,3_prime_UTR_variant,,ENST00000393897,;REG3G,3_prime_UTR_variant,,ENST00000272324,;REG3G,downstream_gene_variant,,ENST00000409471,;REG3G,downstream_gene_variant,,ENST00000490944,;REG3G,downstream_gene_variant,,ENST00000498312,;	794	19	18	SUCCESS
DDX60	55601	.	GRCh37	4	169138031	169138031	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs1372682840	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	69	0	ENST00000393743.3:c.*53T>G			ENST00000393743	NM_017631.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34097.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTGACCTGA	NONE	.	.	.	.	.	ENSP00000377344	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000393743	Transcript	.	.	ENSG00000137628	25942	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX60_HUMAN	DDX60	HGNC	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN	.	UPI000020B6AB	SNV	DDX60,3_prime_UTR_variant,,ENST00000393743,;DDX60,downstream_gene_variant,,ENST00000511317,;	5484	69	39	SUCCESS
PACRGL	133015	.	GRCh37	4	20729052	20729052	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	20	49	0	ENST00000471979.2:c.*56+32A>G			ENST00000471979				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58895.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAATCACA	NONE	.	.	.	.	.	ENSP00000423881	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000503585	Transcript	.	.	ENSG00000163138	28442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACRL_HUMAN	PACRGL	HGNC	D6RF51_HUMAN,D6RF08_HUMAN,D6RDH3_HUMAN,D6RC13_HUMAN,D6RB63_HUMAN,D6R9D1_HUMAN	.	UPI00001405F2	SNV	PACRGL,3_prime_UTR_variant,,ENST00000502938,;PACRGL,3_prime_UTR_variant,,ENST00000503585,;PACRGL,3_prime_UTR_variant,,ENST00000538990,;PACRGL,3_prime_UTR_variant,,ENST00000295290,;PACRGL,3_prime_UTR_variant,,ENST00000502374,;PACRGL,3_prime_UTR_variant,,ENST00000444671,;PACRGL,3_prime_UTR_variant,,ENST00000513459,;PACRGL,3_prime_UTR_variant,,ENST00000360916,;PACRGL,intron_variant,,ENST00000507634,;KCNIP4,downstream_gene_variant,,ENST00000359001,;KCNIP4,downstream_gene_variant,,ENST00000382152,;KCNIP4,downstream_gene_variant,,ENST00000509207,;KCNIP4,downstream_gene_variant,,ENST00000382150,;KCNIP4,downstream_gene_variant,,ENST00000447367,;KCNIP4,downstream_gene_variant,,ENST00000382148,;KCNIP4,downstream_gene_variant,,ENST00000382149,;PACRGL,3_prime_UTR_variant,,ENST00000508952,;PACRGL,intron_variant,,ENST00000471979,;PACRGL,intron_variant,,ENST00000506702,;PACRGL,intron_variant,,ENST00000467997,;PACRGL,downstream_gene_variant,,ENST00000506951,;KCNIP4,downstream_gene_variant,,ENST00000515786,;PACRGL,downstream_gene_variant,,ENST00000506648,;PACRGL,downstream_gene_variant,,ENST00000506552,;	1226	49	43	SUCCESS
FAM13B	51306	.	GRCh37	5	137275835	137275835	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	222	75	161	0	ENST00000033079.3:c.*79del			ENST00000033079	NM_016603.2	614		0	.	.	.	.	.	-	*/X	protein_coding	YES	CCDS43367.1	1841	INDELOCATOR*|VARSCANI*|PINDEL	.	GAATTTAAGTAC	NONE	.	.	.	.	.	ENSP00000290431	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000290431	Transcript	.	.	ENSG00000078795	9012	1	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PK2L2_HUMAN	PKD2L2	HGNC	D6RF71_HUMAN,D6RBX8_HUMAN	.	UPI000049E016	deletion	PKD2L2,frameshift_variant,p.%3D,ENST00000290431,;FAM13B,3_prime_UTR_variant,,ENST00000033079,;PKD2L2,3_prime_UTR_variant,,ENST00000502810,;PKD2L2,3_prime_UTR_variant,,ENST00000508638,;PKD2L2,intron_variant,,ENST00000508883,;FAM13B,downstream_gene_variant,,ENST00000420893,;FAM13B,downstream_gene_variant,,ENST00000425075,;PKD2L2,downstream_gene_variant,,ENST00000350250,;FAM13B,downstream_gene_variant,,ENST00000513640,;	1864	161	297	SUCCESS
TTC37	9652	.	GRCh37	5	94800208	94800208	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	24	32	0	ENST00000358746.2:c.*103del			ENST00000358746	NM_014639.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4072.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAAAGGAATAAA	NONE	.	.	.	.	.	ENSP00000351596	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000358746	Transcript	1	.	ENSG00000198677	23639	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC37_HUMAN	TTC37	HGNC	D6RDA0_HUMAN	.	UPI00000709BD	deletion	TTC37,3_prime_UTR_variant,,ENST00000358746,;	5097	32	68	SUCCESS
MARCKS	4082	.	GRCh37	6	114181991	114181991	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	19	0	ENST00000368635.4:c.*236A>T			ENST00000368635	NM_002356.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5101.1	.	MUTECT|MUSE	.	AGGAGAGCTTA	NONE	.	.	.	.	.	ENSP00000357624	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368635	Transcript	.	.	ENSG00000155130	6759	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MARCS_HUMAN	MARCKS	HGNC	Q05C82_HUMAN	.	UPI000013DDF0	SNV	MARCKS,3_prime_UTR_variant,,ENST00000368635,;	1616	19	15	SUCCESS
GALT	2592	.	GRCh37	9	34650496	34650496	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AADU-01	TCGA-DD-AADU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	42	0	ENST00000378842.3:c.*50C>T			ENST00000378842	NM_000155.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6565.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGCTGAAT	NONE	.	.	.	.	.	ENSP00000368119	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000378842	Transcript	.	.	ENSG00000213930	4135	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALT_HUMAN	GALT	HGNC	P78433_HUMAN,G3V3U5_HUMAN,D3DRM8_HUMAN,D1MBF6_HUMAN,D0EM86_HUMAN	.	UPI000012B073	SNV	GALT,3_prime_UTR_variant,,ENST00000450095,;GALT,3_prime_UTR_variant,,ENST00000378842,;GALT,intron_variant,,ENST00000556278,;IL11RA,upstream_gene_variant,,ENST00000556531,;IL11RA,upstream_gene_variant,,ENST00000556792,;IL11RA,upstream_gene_variant,,ENST00000555981,;IL11RA,upstream_gene_variant,,ENST00000441545,;IL11RA,upstream_gene_variant,,ENST00000553620,;IL11RA,upstream_gene_variant,,ENST00000378817,;IL11RA,upstream_gene_variant,,ENST00000318041,;IL11RA,upstream_gene_variant,,ENST00000555003,;IL11RA,upstream_gene_variant,,ENST00000602473,;GALT,non_coding_transcript_exon_variant,,ENST00000488412,;GALT,downstream_gene_variant,,ENST00000557541,;IL11RA,upstream_gene_variant,,ENST00000478802,;GALT,3_prime_UTR_variant,,ENST00000554550,;GALT,non_coding_transcript_exon_variant,,ENST00000557706,;GALT,non_coding_transcript_exon_variant,,ENST00000555754,;GALT,non_coding_transcript_exon_variant,,ENST00000554638,;GALT,downstream_gene_variant,,ENST00000555214,;GALT,downstream_gene_variant,,ENST00000556403,;GALT,downstream_gene_variant,,ENST00000554897,;GALT,downstream_gene_variant,,ENST00000487381,;IL11RA,upstream_gene_variant,,ENST00000557298,;GALT,downstream_gene_variant,,ENST00000485531,;GALT,downstream_gene_variant,,ENST00000555086,;GALT,downstream_gene_variant,,ENST00000556157,;IL11RA,upstream_gene_variant,,ENST00000555247,;GALT,downstream_gene_variant,,ENST00000554085,;GALT,downstream_gene_variant,,ENST00000555020,;GALT,downstream_gene_variant,,ENST00000556244,;GALT,downstream_gene_variant,,ENST00000468099,;GALT,downstream_gene_variant,,ENST00000465543,;GALT,downstream_gene_variant,,ENST00000556494,;IL11RA,upstream_gene_variant,,ENST00000478308,;GALT,downstream_gene_variant,,ENST00000489643,;GALT,downstream_gene_variant,,ENST00000472111,;GALT,downstream_gene_variant,,ENST00000605275,;GALT,downstream_gene_variant,,ENST00000473506,;GALT,downstream_gene_variant,,ENST00000473529,;IL11RA,upstream_gene_variant,,ENST00000553969,;GALT,downstream_gene_variant,,ENST00000554944,;GALT,downstream_gene_variant,,ENST00000554139,;GALT,downstream_gene_variant,,ENST00000554330,;IL11RA,upstream_gene_variant,,ENST00000555579,;	1232	42	22	SUCCESS
TMPRSS4	56649	.	GRCh37	11	117988719	117988719	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	15	23	0	ENST00000437212.3:c.*91C>G			ENST00000437212				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31684.1	.	MUTECT|MUSE	.	AGTCCCCTTGG	NONE	.	.	.	.	.	ENSP00000416037	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000437212	Transcript	.	.	ENSG00000137648	11878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMPS4_HUMAN	TMPRSS4	HGNC	.	.	UPI00001FA467	SNV	TMPRSS4,3_prime_UTR_variant,,ENST00000524218,;TMPRSS4,3_prime_UTR_variant,,ENST00000437212,;TMPRSS4,3_prime_UTR_variant,,ENST00000523251,;TMPRSS4,3_prime_UTR_variant,,ENST00000534111,;TMPRSS4,3_prime_UTR_variant,,ENST00000522307,;TMPRSS4,3_prime_UTR_variant,,ENST00000522824,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000518413,;TMPRSS4,3_prime_UTR_variant,,ENST00000519236,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,downstream_gene_variant,,ENST00000518610,;TMPRSS4,downstream_gene_variant,,ENST00000523770,;TMPRSS4,downstream_gene_variant,,ENST00000528118,;	1619	23	37	SUCCESS
SLC38A7	55238	.	GRCh37	16	58701176	58701176	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs768565238	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	20	0	ENST00000219320.4:c.*113G>A			ENST00000219320	NM_018231.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10800.1	.	MUTECT|MUSE	.	ATGTCCGGATG	NONE	byFrequency	.	.	.	.	ENSP00000454646	.	11/11	.	.	.	.	.	.	.	.	rs768565238	11/11	PASS	ENST00000570101	Transcript	.	.	ENSG00000103042	25582	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S38A7_HUMAN	SLC38A7	HGNC	H3BRZ0_HUMAN,H3BPV9_HUMAN,H3BPK8_HUMAN,H3BN87_HUMAN	.	UPI000004EC72	SNV	SLC38A7,3_prime_UTR_variant,,ENST00000219320,;SLC38A7,3_prime_UTR_variant,,ENST00000564100,;SLC38A7,3_prime_UTR_variant,,ENST00000570101,;SLC38A7,downstream_gene_variant,,ENST00000564010,;SLC38A7,downstream_gene_variant,,ENST00000566953,;SLC38A7,downstream_gene_variant,,ENST00000566598,;SLC38A7,downstream_gene_variant,,ENST00000562149,;SLC38A7,downstream_gene_variant,,ENST00000565785,;SLC38A7,downstream_gene_variant,,ENST00000569209,;	2386	20	21	SUCCESS
ZNF469	84627	.	GRCh37	16	88505819	88505819	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	34	59	0	ENST00000437464.1:c.*79A>T			ENST00000437464	NM_001127464.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45544.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCTGAGATGG	NONE	.	.	.	.	.	ENSP00000402343	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000437464	Transcript	.	.	ENSG00000225614	23216	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN469_HUMAN	ZNF469	HGNC	.	.	UPI0000DD837B	SNV	ZNF469,3_prime_UTR_variant,,ENST00000565624,;ZNF469,3_prime_UTR_variant,,ENST00000437464,;	11857	59	72	SUCCESS
NPHS1	4868	.	GRCh37	19	36317386	36317386	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	73	0	ENST00000378910.5:c.*30T>A			ENST00000378910	NM_004646.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32996.1	.	MUTECT|MUSE|VARSCANS	.	CCTGCAGGTGC	NONE	.	.	.	.	.	ENSP00000368190	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000378910	Transcript	1	.	ENSG00000161270	7908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPHN_HUMAN	NPHS1	HGNC	.	.	UPI000004EF61	SNV	NPHS1,3_prime_UTR_variant,,ENST00000378910,;NPHS1,3_prime_UTR_variant,,ENST00000353632,;	3756	73	104	SUCCESS
RASSF2	9770	.	GRCh37	20	4764824	4764824	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	5	34	0	ENST00000379376.2:c.*95G>T			ENST00000379376	NM_170774.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13083.1	.	MUTECT|MUSE|VARSCANS	.	TGTGTCTAAAT	NONE	.	.	.	.	.	ENSP00000368710	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000379400	Transcript	.	.	ENSG00000101265	9883	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RASF2_HUMAN	RASSF2	HGNC	.	.	UPI0000001C0A	SNV	RASSF2,3_prime_UTR_variant,,ENST00000379376,;RASSF2,3_prime_UTR_variant,,ENST00000379400,;RASSF2,non_coding_transcript_exon_variant,,ENST00000478553,;	1272	34	33	SUCCESS
CEBPB	1051	.	GRCh37	20	48809092	48809092	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	91	58	126	0	ENST00000303004.3:c.*484T>C			ENST00000303004	NM_005194.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13429.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTATTAT	NONE	.	.	.	.	.	ENSP00000305422	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303004	Transcript	.	.	ENSG00000172216	1834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEBPB_HUMAN	CEBPB	HGNC	Q9BSC0_HUMAN	.	UPI000000D8BA	SNV	CEBPB,3_prime_UTR_variant,,ENST00000303004,;	1717	126	149	SUCCESS
NDUFAF7	55471	.	GRCh37	2	37475513	37475513	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	22	46	0	ENST00000002125.4:c.*20T>C			ENST00000002125	NM_144736.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1788.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTTACCCT	NONE	.	.	.	.	.	ENSP00000002125	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000002125	Transcript	.	.	ENSG00000003509	28816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUF7_HUMAN	NDUFAF7	HGNC	C9JS27_HUMAN,C9JP36_HUMAN,C9JEL7_HUMAN,C9J236_HUMAN	.	UPI000004A041	SNV	NDUFAF7,3_prime_UTR_variant,,ENST00000002125,;NDUFAF7,3_prime_UTR_variant,,ENST00000336237,;NDUFAF7,downstream_gene_variant,,ENST00000431821,;NDUFAF7,downstream_gene_variant,,ENST00000439218,;PRKD3,downstream_gene_variant,,ENST00000234179,;PRKD3,downstream_gene_variant,,ENST00000379066,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000419278,;NDUFAF7,downstream_gene_variant,,ENST00000483999,;NDUFAF7,3_prime_UTR_variant,,ENST00000441905,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474154,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474257,;NDUFAF7,downstream_gene_variant,,ENST00000455230,;	1386	46	60	SUCCESS
ETFDH	2110	.	GRCh37	4	159629790	159629790	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	45	0	ENST00000511912.1:c.*111A>G			ENST00000511912	NM_004453.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3800.1	.	MUTECT|MUSE	.	ACAAAATGATT	NONE	.	.	.	.	.	ENSP00000426638	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000511912	Transcript	1	.	ENSG00000171503	3483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ETFD_HUMAN	ETFDH	HGNC	D6RAD5_HUMAN,B4DEQ0_HUMAN	.	UPI000013EC48	SNV	ETFDH,3_prime_UTR_variant,,ENST00000511912,;PPID,downstream_gene_variant,,ENST00000307720,;ETFDH,downstream_gene_variant,,ENST00000307738,;PPID,downstream_gene_variant,,ENST00000507213,;ETFDH,downstream_gene_variant,,ENST00000506422,;PPID,downstream_gene_variant,,ENST00000512699,;	2297	45	24	SUCCESS
C6orf120	387263	.	GRCh37	6	170104471	170104471	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	20	63	0	ENST00000332290.2:c.*1340A>G			ENST00000332290	NM_001029863.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34575.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTATCATA	NONE	.	.	.	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,3_prime_UTR_variant,,ENST00000332290,;PHF10,intron_variant,,ENST00000366780,;PHF10,intron_variant,,ENST00000339209,;C6orf120,downstream_gene_variant,,ENST00000439249,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	2215	63	49	SUCCESS
HLA-DQB2	3120	.	GRCh37	6	32724046	32724046	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	13	0	ENST00000411527.1:c.*184C>G			ENST00000411527	NM_001198858.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56419.1	.	MUTECT|MUSE	.	GTGCAGGAAGC	NONE	.	.	.	.	.	ENSP00000390431	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000411527	Transcript	.	.	ENSG00000232629	4945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DQB2_HUMAN	HLA-DQB2	HGNC	.	.	UPI0000457414	SNV	HLA-DQB2,3_prime_UTR_variant,,ENST00000437316,;HLA-DQB2,3_prime_UTR_variant,,ENST00000435145,;HLA-DQB2,3_prime_UTR_variant,,ENST00000411527,;HLA-DQB2,downstream_gene_variant,,ENST00000427449,;	888	13	21	SUCCESS
ACTL6B	51412	.	GRCh37	7	100239197	100239197	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	48	85	0				ENST00000160382	NM_016188.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34707.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGGGAGCCC	NONE	.	.	.	.	.	ENSP00000420525	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000462107	Transcript	.	.	ENSG00000106327	11762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFR2_HUMAN	TFR2	HGNC	.	.	UPI0000136C99	SNV	TFR2,5_prime_UTR_variant,,ENST00000462107,;ACTL6B,downstream_gene_variant,,ENST00000160382,;TFR2,upstream_gene_variant,,ENST00000223051,;TFR2,upstream_gene_variant,,ENST00000431692,;TFR2,non_coding_transcript_exon_variant,,ENST00000474947,;TFR2,upstream_gene_variant,,ENST00000465294,;ACTL6B,downstream_gene_variant,,ENST00000487125,;	224	85	101	SUCCESS
MUM1L1	0	.	GRCh37	X	105452120	105452120	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	14	142	0	ENST00000337685.2:c.*604A>C			ENST00000337685	NM_152423.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55469.1	.	MUTECT|MUSE|VARSCANS	.	AATGAAGATTA	NONE	.	.	.	.	.	ENSP00000338641	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000337685	Transcript	.	.	ENSG00000157502	26583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MUML1_HUMAN	MUM1L1	HGNC	.	.	UPI0000212206	SNV	MUM1L1,3_prime_UTR_variant,,ENST00000357175,;MUM1L1,3_prime_UTR_variant,,ENST00000337685,;MUM1L1,3_prime_UTR_variant,,ENST00000372552,;	3480	142	163	SUCCESS
PLCXD1	55344	.	GRCh37	X	216095	216095	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	72	0	ENST00000381657.2:c.*93C>G			ENST00000381657	NM_018390.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14103.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATCATAGG	NONE	.	.	.	.	.	ENSP00000371073	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000381657	Transcript	.	.	ENSG00000182378	23148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLCX1_HUMAN	PLCXD1	HGNC	K7EIC3_HUMAN,C9JP92_HUMAN	.	UPI0000048190	SNV	PLCXD1,3_prime_UTR_variant,,ENST00000381657,;PLCXD1,3_prime_UTR_variant,,ENST00000399012,;PLCXD1,3_prime_UTR_variant,,ENST00000381663,;GTPBP6,downstream_gene_variant,,ENST00000326153,;	1579	72	62	SUCCESS
PABPC5	140886	.	GRCh37	X	90692659	90692659	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AADV-01	TCGA-DD-AADV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	18	161	0	ENST00000312600.3:c.*934T>G			ENST00000312600	NM_080832.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14460.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTTCTTC	NONE	.	.	.	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,3_prime_UTR_variant,,ENST00000312600,;PABPC5,downstream_gene_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	2297	161	161	SUCCESS
TMEM254	80195	.	GRCh37	10	81850809	81850809	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	21	0	ENST00000372281.3:c.*136T>C			ENST00000372281	NM_001270372.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7363.1	.	MUTECT|MUSE	.	CCCCCTCGTTA	NONE	.	.	.	.	.	ENSP00000361355	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372281	Transcript	.	.	ENSG00000133678	25804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM254_HUMAN	TMEM254	HGNC	.	.	UPI0000072C96	SNV	TMEM254,3_prime_UTR_variant,,ENST00000450179,;TMEM254,3_prime_UTR_variant,,ENST00000372275,;TMEM254,3_prime_UTR_variant,,ENST00000372273,;TMEM254,3_prime_UTR_variant,,ENST00000372281,;TMEM254,downstream_gene_variant,,ENST00000372277,;TMEM254,downstream_gene_variant,,ENST00000372274,;TMEM254,non_coding_transcript_exon_variant,,ENST00000472622,;TMEM254,non_coding_transcript_exon_variant,,ENST00000476173,;TMEM254,non_coding_transcript_exon_variant,,ENST00000467529,;TMEM254,non_coding_transcript_exon_variant,,ENST00000463029,;TMEM254,downstream_gene_variant,,ENST00000463209,;TMEM254,downstream_gene_variant,,ENST00000483732,;	538	21	14	SUCCESS
KCNJ2	3759	.	GRCh37	17	68174806	68174806	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	206	9	127	0	ENST00000243457.3:c.*2342G>T			ENST00000243457	NM_000891.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11688.1	.	MUTECT|MUSE	.	GGGGGGCAAGA	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	4009	127	215	SUCCESS
APC2	10297	.	GRCh37	19	1470234	1470234	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	32	35	0	ENST00000233607.2:c.*22A>C			ENST00000233607	NM_005883.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12068.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGAACGTT	NONE	.	.	.	.	.	ENSP00000442954	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	SNV	APC2,3_prime_UTR_variant,,ENST00000233607,;APC2,3_prime_UTR_variant,,ENST00000238483,;APC2,3_prime_UTR_variant,,ENST00000535453,;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000586564,;C19orf25,downstream_gene_variant,,ENST00000436106,;C19orf25,downstream_gene_variant,,ENST00000588849,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000592872,;C19orf25,downstream_gene_variant,,ENST00000585675,;C19orf25,downstream_gene_variant,,ENST00000590621,;C19orf25,downstream_gene_variant,,ENST00000588871,;C19orf25,downstream_gene_variant,,ENST00000592486,;APC2,downstream_gene_variant,,ENST00000593146,;	8647	35	54	SUCCESS
OR2L13	284521	.	GRCh37	1	248263787	248263787	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	84	191	0	ENST00000358120.2:c.*171A>T			ENST00000358120				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1637.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTAATATTA	NONE	.	.	.	.	.	ENSP00000355434	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000366478	Transcript	.	.	ENSG00000196071	19578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2LD_HUMAN	OR2L13	HGNC	.	.	UPI0000043517	SNV	OR2L13,3_prime_UTR_variant,,ENST00000358120,;OR2L13,3_prime_UTR_variant,,ENST00000366478,;	1447	191	239	SUCCESS
CTSZ	1522	.	GRCh37	20	57570587	57570587	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	7	30	0	ENST00000217131.5:c.*117G>T			ENST00000217131	NM_001336.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13474.1	.	MUTECT|MUSE	.	GCCATCCAATA	NONE	.	.	.	.	.	ENSP00000217131	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000217131	Transcript	.	.	ENSG00000101160	2547	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CATZ_HUMAN	CTSZ	HGNC	.	.	UPI000000D9CC	SNV	CTSZ,3_prime_UTR_variant,,ENST00000217131,;NELFCD,downstream_gene_variant,,ENST00000344018,;NELFCD,downstream_gene_variant,,ENST00000602795,;NELFCD,downstream_gene_variant,,ENST00000497935,;NELFCD,downstream_gene_variant,,ENST00000479207,;CTSZ,downstream_gene_variant,,ENST00000503833,;NELFCD,downstream_gene_variant,,ENST00000460601,;NELFCD,downstream_gene_variant,,ENST00000478389,;CTSZ,downstream_gene_variant,,ENST00000488395,;NELFCD,downstream_gene_variant,,ENST00000474543,;NELFCD,downstream_gene_variant,,ENST00000486263,;NELFCD,downstream_gene_variant,,ENST00000490205,;NELFCD,downstream_gene_variant,,ENST00000477741,;	1148	30	39	SUCCESS
OLIG1	116448	.	GRCh37	21	34443666	34443666	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	11	98	0	ENST00000382348.1:c.*298G>C			ENST00000382348	NM_138983.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42920.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGAGTTG	NONE	.	.	.	.	.	ENSP00000371785	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382348	Transcript	.	.	ENSG00000184221	16983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OLIG1_HUMAN	OLIG1	HGNC	Q59EM0_HUMAN	.	UPI0000130C80	SNV	OLIG1,3_prime_UTR_variant,,ENST00000333063,;OLIG1,3_prime_UTR_variant,,ENST00000426947,;OLIG1,3_prime_UTR_variant,,ENST00000382348,;AP000282.2,upstream_gene_variant,,ENST00000454622,;AP000282.2,upstream_gene_variant,,ENST00000420356,;OLIG1,upstream_gene_variant,,ENST00000498799,;	1217	98	96	SUCCESS
DIP2A	23181	.	GRCh37	21	47987630	47987630	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1045700709	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	15	0	ENST00000417564.2:c.*95C>T			ENST00000417564				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46655.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTCGCCCT	NONE	.	.	.	.	.	ENSP00000392066	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000417564	Transcript	.	.	ENSG00000160305	17217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DIP2A_HUMAN	DIP2A	HGNC	Q9NSX6_HUMAN,Q96NX2_HUMAN	.	UPI00001B2E47	SNV	DIP2A,3_prime_UTR_variant,,ENST00000400274,;DIP2A,3_prime_UTR_variant,,ENST00000417564,;DIP2A,3_prime_UTR_variant,,ENST00000318711,;DIP2A,non_coding_transcript_exon_variant,,ENST00000479654,;DIP2A,non_coding_transcript_exon_variant,,ENST00000478105,;	4832	15	30	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131672890	131672890	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	124	0				ENST00000326016	NM_015320.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2165.1	.	MUTECT|MUSE	.	GAGCCCGCTGA	NONE	.	1334	.	.	.	ENSP00000316845	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,synonymous_variant,p.%3D,ENST00000409359,;ARHGEF4,upstream_gene_variant,,ENST00000392953,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	.	124	101	SUCCESS
WHSC1	0	.	GRCh37	4	1980735	1980735	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1236689198	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	40	0	ENST00000382895.3:c.*99G>A			ENST00000382895	NM_133330.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33940.1	.	MUTECT|MUSE	.	AGCTCGAGCCG	NONE	.	.	.	.	.	ENSP00000372351	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000382895	Transcript	1	.	ENSG00000109685	12766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NSD2_HUMAN	WHSC1	HGNC	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN	.	UPI0000073F57	SNV	WHSC1,3_prime_UTR_variant,,ENST00000382892,;WHSC1,3_prime_UTR_variant,,ENST00000382895,;WHSC1,3_prime_UTR_variant,,ENST00000382891,;WHSC1,downstream_gene_variant,,ENST00000508803,;WHSC1,downstream_gene_variant,,ENST00000382888,;NELFA,downstream_gene_variant,,ENST00000411638,;NELFA,downstream_gene_variant,,ENST00000416258,;NELFA,downstream_gene_variant,,ENST00000542778,;NELFA,downstream_gene_variant,,ENST00000382882,;SCARNA22,downstream_gene_variant,,ENST00000503991,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;NELFA,downstream_gene_variant,,ENST00000333877,;NELFA,downstream_gene_variant,,ENST00000463820,;NELFA,downstream_gene_variant,,ENST00000467661,;WHSC1,downstream_gene_variant,,ENST00000508299,;WHSC1,downstream_gene_variant,,ENST00000515695,;	4628	40	53	SUCCESS
FGF1	2246	.	GRCh37	5	141974792	141974792	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	53	0	ENST00000337706.2:c.*63C>G			ENST00000337706				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4275.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGGTCAA	NONE	.	.	.	.	.	ENSP00000352329	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000359370	Transcript	.	.	ENSG00000113578	3665	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF1_HUMAN	FGF1	HGNC	Q9UBK1_HUMAN,Q6LBM3_HUMAN,C9JUP6_HUMAN,C9JDC5_HUMAN,A8K147_HUMAN	.	UPI00000411BE	SNV	FGF1,3_prime_UTR_variant,,ENST00000359370,;FGF1,3_prime_UTR_variant,,ENST00000378046,;FGF1,3_prime_UTR_variant,,ENST00000337706,;FGF1,3_prime_UTR_variant,,ENST00000360966,;FGF1,downstream_gene_variant,,ENST00000419524,;FGF1,downstream_gene_variant,,ENST00000407758,;FGF1,downstream_gene_variant,,ENST00000441680,;AC005592.2,intron_variant,,ENST00000414314,;AC005592.2,intron_variant,,ENST00000443800,;FGF1,downstream_gene_variant,,ENST00000494579,;FGF1,non_coding_transcript_exon_variant,,ENST00000489937,;FGF1,downstream_gene_variant,,ENST00000494344,;	611	53	23	SUCCESS
HIST1H1A	0	.	GRCh37	6	26021005	26021005	+	upstream_gene_variant	5'Flank	SNP	G	G	C	rs755300417	.	TCGA-DD-AADW-01	TCGA-DD-AADW-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	39	136	0				ENST00000244573	NM_005325.3	96		0	.	.	.	.	.	C	A	protein_coding	YES	CCDS4570.1	288	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCGTGCGA	NONE	.	.	hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000350275	.	1/1	.	.	.	.	.	.	.	.	rs755300417	1/1	PASS	ENST00000357647	Transcript	.	.	ENSG00000198366	4766	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3A	HGNC	.	.	UPI00000003C7	SNV	HIST1H3A,synonymous_variant,p.%3D,ENST00000357647,;HIST1H1A,upstream_gene_variant,,ENST00000244573,;HIST1H4A,upstream_gene_variant,,ENST00000359907,;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;	288	136	116	SUCCESS
INTS6	26512	.	GRCh37	13	51939714	51939714	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs539759350	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	25	63	0	ENST00000311234.4:c.*174G>C			ENST00000311234	NM_012141.2			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS9428.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAACCAAAAT	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000310260	T:0	18/18	.	.	.	.	.	.	.	.	rs539759350	18/18	PASS	ENST00000311234	Transcript	.	T:0.0004	ENSG00000102786	14879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	INT6_HUMAN	INTS6	HGNC	G5E9X1_HUMAN,C9K0V7_HUMAN,C9JVX2_HUMAN,C9J885_HUMAN,C9J0C6_HUMAN,B3KQH5_HUMAN	.	UPI0000030C84	SNV	INTS6,3_prime_UTR_variant,,ENST00000398119,;INTS6,3_prime_UTR_variant,,ENST00000497989,;INTS6,3_prime_UTR_variant,,ENST00000311234,;INTS6,downstream_gene_variant,,ENST00000425000,;INTS6,downstream_gene_variant,,ENST00000463928,;INTS6,downstream_gene_variant,,ENST00000490542,;SERPINE3,downstream_gene_variant,,ENST00000400389,;SERPINE3,downstream_gene_variant,,ENST00000524365,;SERPINE3,downstream_gene_variant,,ENST00000521255,;RP11-24B19.4,upstream_gene_variant,,ENST00000602881,;RP11-24B19.3,upstream_gene_variant,,ENST00000602636,;INTS6,intron_variant,,ENST00000476666,;INTS6,3_prime_UTR_variant,,ENST00000469430,;INTS6,non_coding_transcript_exon_variant,,ENST00000483441,;	3311	63	35	SUCCESS
SUGP2	10147	.	GRCh37	19	19105023	19105023	+	intron_variant	Intron	SNP	A	A	C	rs1206462863	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	19	0	ENST00000337018.6:c.*152T>G			ENST00000337018	NM_014884.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12392.1	.	MUTECT|MUSE	.	CATAGACCCTT	NONE	.	.	.	.	.	ENSP00000472286	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000601879	Transcript	.	.	ENSG00000064607	18641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUGP2_HUMAN	SUGP2	HGNC	M0R065_HUMAN	.	UPI000019825D	SNV	SUGP2,3_prime_UTR_variant,,ENST00000601879,;SUGP2,3_prime_UTR_variant,,ENST00000600377,;SUGP2,intron_variant,,ENST00000452918,;SUGP2,intron_variant,,ENST00000337018,;SUGP2,downstream_gene_variant,,ENST00000456085,;AC004447.2,downstream_gene_variant,,ENST00000594142,;SUGP2,upstream_gene_variant,,ENST00000597095,;SUGP2,upstream_gene_variant,,ENST00000597163,;SUGP2,upstream_gene_variant,,ENST00000598863,;SUGP2,intron_variant,,ENST00000330854,;SUGP2,intron_variant,,ENST00000593795,;SUGP2,intron_variant,,ENST00000594773,;SUGP2,intron_variant,,ENST00000597280,;SUGP2,intron_variant,,ENST00000600239,;SUGP2,downstream_gene_variant,,ENST00000598240,;	3699	19	10	SUCCESS
KLHL22	84861	.	GRCh37	22	20796263	20796263	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	21	0	ENST00000328879.4:c.*97C>G			ENST00000328879	NM_032775.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13780.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGGGCCCT	NONE	.	.	.	.	.	ENSP00000331682	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000328879	Transcript	.	.	ENSG00000099910	25888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLH22_HUMAN	KLHL22	HGNC	C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN	.	UPI0000072F37	SNV	KLHL22,3_prime_UTR_variant,,ENST00000440659,;KLHL22,3_prime_UTR_variant,,ENST00000328879,;SCARF2,upstream_gene_variant,,ENST00000405555,;SCARF2,upstream_gene_variant,,ENST00000266214,;KLHL22,intron_variant,,ENST00000429594,;	2159	21	29	SUCCESS
SLC4A10	57282	.	GRCh37	2	162480851	162480851	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	11	0				ENST00000446997	NM_001178015.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54411.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAAAACCTG	NONE	.	85	.	.	.	ENSP00000393066	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000446997	Transcript	.	.	ENSG00000144290	13811	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A10_HUMAN	SLC4A10	HGNC	.	.	UPI00001D4707	SNV	SLC4A10,5_prime_UTR_variant,,ENST00000415876,;SLC4A10,5_prime_UTR_variant,,ENST00000375514,;SLC4A10,upstream_gene_variant,,ENST00000446997,;SLC4A10,upstream_gene_variant,,ENST00000421911,;SLC4A10,upstream_gene_variant,,ENST00000272716,;SLC4A10,upstream_gene_variant,,ENST00000535165,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000605990,;SLC4A10,intron_variant,,ENST00000606386,;SLC4A10,intron_variant,,ENST00000482861,;SLC4A10,upstream_gene_variant,,ENST00000481721,;SLC4A10,upstream_gene_variant,,ENST00000461456,;SLC4A10,upstream_gene_variant,,ENST00000493021,;SLC4A10,upstream_gene_variant,,ENST00000446228,;	.	11	17	SUCCESS
DCAF4L1	285429	.	GRCh37	4	41986480	41986480	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	47	1	ENST00000333141.5:c.*1480C>A			ENST00000333141	NM_001029955.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33978.1	.	SOMATICSNIPER|VARSCANS	.	TGAGACGGAGT	NONE	.	.	.	.	.	ENSP00000327796	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333141	Transcript	.	.	ENSG00000182308	27723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DC4L1_HUMAN	DCAF4L1	HGNC	.	.	UPI0000160C25	SNV	DCAF4L1,3_prime_UTR_variant,,ENST00000333141,;RP11-814H16.2,downstream_gene_variant,,ENST00000608029,;	2768	48	40	SUCCESS
POU3F4	5456	.	GRCh37	X	82764589	82764589	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AADY-01	TCGA-DD-AADY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	44	67	0	ENST00000373200.2:c.*171C>A			ENST00000373200	NM_000307.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14450.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCCCTTTT	NONE	.	.	.	.	.	ENSP00000362296	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373200	Transcript	.	.	ENSG00000196767	9217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PO3F4_HUMAN	POU3F4	HGNC	.	.	UPI000045785D	SNV	POU3F4,3_prime_UTR_variant,,ENST00000373200,;RP3-326L13.3,upstream_gene_variant,,ENST00000607789,;RP3-326L13.2,upstream_gene_variant,,ENST00000607095,;	1321	67	79	SUCCESS
RP11-175P13.3	0	.	GRCh37	12	100564749	100564749	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	19	15	0				ENST00000548404				0	.	.	.	.	.	C	.	processed_transcript	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGGTGGCAC	NONE	.	2225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000548404	Transcript	.	.	ENSG00000257489	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-175P13.3	Clone_based_vega_gene	.	.	.	SNV	GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000397112,;GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000421840,;RP11-175P13.3,downstream_gene_variant,,ENST00000548404,;RP11-175P13.3,downstream_gene_variant,,ENST00000546397,;RP11-175P13.3,downstream_gene_variant,,ENST00000550096,;GOLGA2P5,upstream_gene_variant,,ENST00000546413,;GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000429462,;GOLGA2P5,non_coding_transcript_exon_variant,,ENST00000266746,;	.	15	30	SUCCESS
LRRC37A3	374819	.	GRCh37	17	62850585	62850585	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs867666444	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	46	0	ENST00000319651.5:c.*132C>T			ENST00000319651				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32708.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAACGATGGC	NONE	.	.	.	.	.	ENSP00000464535	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000584306	Transcript	.	.	ENSG00000176809	32427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L37A3_HUMAN	LRRC37A3	HGNC	F8W7X0_HUMAN,B4DSF2_HUMAN	.	UPI00005B2F0A	SNV	LRRC37A3,3_prime_UTR_variant,,ENST00000339474,;LRRC37A3,3_prime_UTR_variant,,ENST00000319651,;LRRC37A3,3_prime_UTR_variant,,ENST00000584306,;LRRC37A3,3_prime_UTR_variant,,ENST00000400877,;LRRC37A3,3_prime_UTR_variant,,ENST00000583510,;LRRC37A3,3_prime_UTR_variant,,ENST00000334962,;	5568	46	64	SUCCESS
MMACHC	25974	.	GRCh37	1	45974925	45974925	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	32	0	ENST00000401061.4:c.*38G>C			ENST00000401061	NM_015506.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41324.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTGCTAGG	NONE	.	.	.	.	.	ENSP00000383840	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000401061	Transcript	.	.	ENSG00000132763	24525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMAC_HUMAN	MMACHC	HGNC	.	.	UPI00001C1D6D	SNV	MMACHC,3_prime_UTR_variant,,ENST00000401061,;PRDX1,downstream_gene_variant,,ENST00000372079,;PRDX1,downstream_gene_variant,,ENST00000319248,;PRDX1,downstream_gene_variant,,ENST00000262746,;MMACHC,upstream_gene_variant,,ENST00000477188,;	1167	32	45	SUCCESS
CHST10	9486	.	GRCh37	2	101009596	101009596	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	33	0	ENST00000264249.3:c.*111C>G			ENST00000264249	NM_004854.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2047.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCGGGCGT	NONE	.	.	.	.	.	ENSP00000264249	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,3_prime_UTR_variant,,ENST00000264249,;CHST10,downstream_gene_variant,,ENST00000420858,;CHST10,downstream_gene_variant,,ENST00000448989,;CHST10,downstream_gene_variant,,ENST00000409046,;CHST10,downstream_gene_variant,,ENST00000542617,;CHST10,downstream_gene_variant,,ENST00000409701,;CHST10,downstream_gene_variant,,ENST00000421474,;CHST10,downstream_gene_variant,,ENST00000484382,;	1568	33	36	SUCCESS
NAA38	84316	.	GRCh37	7	117832218	117832218	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs1020161888	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	25	0	ENST00000249299.2:c.*162A>C			ENST00000249299	NM_016200.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5775.1	.	MUTECT|MUSE	.	AAAAAACCTTT	NONE	.	.	.	.	.	ENSP00000249299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	SNV	NAA38,3_prime_UTR_variant,,ENST00000249299,;NAA38,3_prime_UTR_variant,,ENST00000422760,;NAA38,downstream_gene_variant,,ENST00000411938,;NAA38,downstream_gene_variant,,ENST00000424702,;	645	25	19	SUCCESS
NAA38	84316	.	GRCh37	7	117832220	117832220	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1002780594	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	24	0	ENST00000249299.2:c.*164C>T			ENST00000249299	NM_016200.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5775.1	.	MUTECT|MUSE	.	AAAACCTTTTT	NONE	.	.	.	.	.	ENSP00000249299	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000249299	Transcript	.	.	ENSG00000128534	20471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAA38_HUMAN	NAA38	HGNC	A4D0W0_HUMAN,F2Z2Y6_HUMAN,C9JIZ0_HUMAN	.	UPI00000041B7	SNV	NAA38,3_prime_UTR_variant,,ENST00000249299,;NAA38,downstream_gene_variant,,ENST00000411938,;NAA38,downstream_gene_variant,,ENST00000424702,;NAA38,downstream_gene_variant,,ENST00000422760,;	647	24	18	SUCCESS
C8orf4	0	.	GRCh37	8	40012673	40012673	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	rs1289921583	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	301	50	220	0	ENST00000315792.3:c.*1305del			ENST00000315792	NM_020130.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6115.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCTATTTTTC	NONE	.	.	.	.	.	ENSP00000319914	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000315792	Transcript	.	.	ENSG00000176907	1357	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CH004_HUMAN	C8orf4	HGNC	.	.	UPI000013FBD4	deletion	C8orf4,3_prime_UTR_variant,,ENST00000315792,;	1685	220	351	SUCCESS
LHX2	9355	.	GRCh37	9	126795032	126795032	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs555254152	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	14	59	0	ENST00000373615.4:c.*46T>G			ENST00000373615	NM_004789.3			0	.	C:0	.	C:0	.	G	.	protein_coding	YES	CCDS6853.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTATCTTTA	NONE	by1000G	.	.	C:0	.	ENSP00000362717	C:0	5/5	.	.	.	.	.	.	.	.	rs555254152	5/5	PASS	ENST00000373615	Transcript	.	C:0.0002	ENSG00000106689	6594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	LHX2_HUMAN	LHX2	HGNC	.	.	UPI000012E659	SNV	LHX2,3_prime_UTR_variant,,ENST00000488674,;LHX2,3_prime_UTR_variant,,ENST00000446480,;LHX2,3_prime_UTR_variant,,ENST00000373615,;RP11-85O21.5,upstream_gene_variant,,ENST00000429482,;	2006	59	66	SUCCESS
SPRY3	10251	.	GRCh37	X	155009668	155009668	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE0-01	TCGA-DD-AAE0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	58	194	0	ENST00000302805.2:c.*5268C>T			ENST00000302805	NM_005840.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14769.4	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTGCTGCTG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	6566	194	183	SUCCESS
ZNF98	148198	.	GRCh37	19	22574280	22574280	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	169	84	272	1	ENST00000357774.5:c.*38C>A			ENST00000357774	NM_001098626.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46031.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTGATAAC	NONE	.	.	.	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,3_prime_UTR_variant,,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	1879	273	254	SUCCESS
LYST	1130	.	GRCh37	1	235826147	235826147	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	10	30	0	ENST00000389793.2:c.*93G>A			ENST00000389793	NM_000081.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCATCCATTT	NONE	.	.	.	.	.	ENSP00000374444	.	53/53	.	.	.	.	.	.	.	.	.	53/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,3_prime_UTR_variant,,ENST00000389793,;LYST,3_prime_UTR_variant,,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	11674	30	52	SUCCESS
C22orf46	79640	.	GRCh37	22	42091473	42091473	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	126	72	203	0	ENST00000402966.1:c.*1491G>A			ENST00000402966	NM_001142964.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46717.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGTGCACAT	NONE	.	.	.	.	.	ENSP00000385467	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000402966	Transcript	.	.	ENSG00000184208	26294	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV046_HUMAN	C22orf46	HGNC	.	.	UPI00018962D9	SNV	C22orf46,3_prime_UTR_variant,,ENST00000402966,;NHP2L1,upstream_gene_variant,,ENST00000402458,;MEI1,upstream_gene_variant,,ENST00000300398,;MEI1,upstream_gene_variant,,ENST00000401548,;MEI1,upstream_gene_variant,,ENST00000540833,;MEI1,upstream_gene_variant,,ENST00000400107,;C22orf46,downstream_gene_variant,,ENST00000472110,;Z83840.1,non_coding_transcript_exon_variant,,ENST00000539984,;	2308	203	199	SUCCESS
AC016757.3	0	.	GRCh37	2	239140836	239140836	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	75	0				ENST00000409070				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTTGGGTC	NONE	.	764	.	.	.	ENSP00000386947	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409070	Transcript	.	.	ENSG00000186235	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AC016757.3	Clone_based_vega_gene	E9PFS4_HUMAN,E7EVB8_HUMAN,E7EUL1_HUMAN	.	UPI00001D7DA2	SNV	AC016757.3,upstream_gene_variant,,ENST00000334973,;AC016757.3,upstream_gene_variant,,ENST00000409942,;AC016757.3,upstream_gene_variant,,ENST00000409070,;AC016757.3,upstream_gene_variant,,ENST00000409376,;AC096574.4,non_coding_transcript_exon_variant,,ENST00000456601,;AC016757.3,upstream_gene_variant,,ENST00000470346,;AC016757.3,upstream_gene_variant,,ENST00000475669,;AC016757.3,upstream_gene_variant,,ENST00000466075,;AC096574.4,upstream_gene_variant,,ENST00000438457,;	.	75	81	SUCCESS
C2orf16	84226	.	GRCh37	2	27805448	27805448	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	35	66	0	ENST00000408964.2:c.*54T>C			ENST00000408964	NM_032266.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42666.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTTTCCAGG	NONE	.	.	.	.	.	ENSP00000386190	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408964	Transcript	.	.	ENSG00000221843	25275	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB016_HUMAN	C2orf16	HGNC	.	.	UPI0000D61179	SNV	C2orf16,3_prime_UTR_variant,,ENST00000408964,;ZNF512,upstream_gene_variant,,ENST00000355467,;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,upstream_gene_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	6060	66	80	SUCCESS
PPP4R2	151987	.	GRCh37	3	73114930	73114930	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1159031306	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	54	0	ENST00000356692.5:c.*57A>G			ENST00000356692				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2917.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTATAAAA	NONE	.	.	.	.	.	ENSP00000349124	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000356692	Transcript	.	.	ENSG00000163605	18296	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PP4R2_HUMAN	PPP4R2	HGNC	F8WDK3_HUMAN	.	UPI000006F837	SNV	PPP4R2,3_prime_UTR_variant,,ENST00000356692,;PPP4R2,3_prime_UTR_variant,,ENST00000394284,;PPP4R2,3_prime_UTR_variant,,ENST00000295862,;PPP4R2,downstream_gene_variant,,ENST00000460360,;PPP4R2,downstream_gene_variant,,ENST00000488810,;EBLN2,downstream_gene_variant,,ENST00000533473,;PPP4R2,downstream_gene_variant,,ENST00000470976,;PPP4R2,downstream_gene_variant,,ENST00000482242,;	1564	54	40	SUCCESS
ACER2	340485	.	GRCh37	9	19409004	19409004	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs1055744119	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	15	30	0				ENST00000340967	NM_001010887.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34992.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCTGTCGCC	NONE	.	53	.	.	.	ENSP00000342609	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000340967	Transcript	.	.	ENSG00000177076	23675	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACER2_HUMAN	ACER2	HGNC	.	.	UPI000014042D	SNV	ACER2,5_prime_UTR_variant,,ENST00000380376,;ACER2,upstream_gene_variant,,ENST00000340967,;	.	30	19	SUCCESS
KIF27	55582	.	GRCh37	9	86451752	86451752	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs773791249	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	15	32	0	ENST00000297814.2:c.*164A>G			ENST00000297814	NM_017576.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6665.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATATATAGA	NONE	.	.	.	.	.	ENSP00000297814	.	18/18	.	.	.	.	.	.	.	.	rs773791249	18/18	PASS	ENST00000297814	Transcript	.	.	ENSG00000165115	18632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF27_HUMAN	KIF27	HGNC	B4DMY5_HUMAN	.	UPI000018F32F	SNV	KIF27,3_prime_UTR_variant,,ENST00000413982,;KIF27,3_prime_UTR_variant,,ENST00000334204,;KIF27,3_prime_UTR_variant,,ENST00000297814,;RP11-575L7.4,intron_variant,,ENST00000591217,;RP11-575L7.2,intron_variant,,ENST00000439378,;RP11-575L7.2,intron_variant,,ENST00000458016,;RP11-575L7.2,intron_variant,,ENST00000417672,;RP11-575L7.2,upstream_gene_variant,,ENST00000412069,;	4514	32	52	SUCCESS
DDX53	168400	.	GRCh37	X	23020135	23020135	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE1-01	TCGA-DD-AAE1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	196	214	1	ENST00000327968.5:c.*65A>T			ENST00000327968	NM_182699.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35214.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTAAGGAA	NONE	.	.	.	.	.	ENSP00000368667	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327968	Transcript	.	.	ENSG00000184735	20083	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDX53_HUMAN	DDX53	HGNC	.	.	UPI0000199904	SNV	DDX53,3_prime_UTR_variant,,ENST00000327968,;RP11-40F8.2,intron_variant,,ENST00000455399,;RP11-40F8.2,intron_variant,,ENST00000608254,;	2049	215	221	SUCCESS
C11orf86	254439	.	GRCh37	11	66743991	66743991	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	10	0	ENST00000308963.4:c.*269T>A			ENST00000308963	NM_001136485.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44656.1	.	MUTECT|MUSE	.	GGGCTTGGGTA	NONE	.	.	.	.	.	ENSP00000311479	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000308963	Transcript	.	.	ENSG00000173237	34442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CK086_HUMAN	C11orf86	HGNC	.	.	UPI00001FAD07	SNV	C11orf86,3_prime_UTR_variant,,ENST00000308963,;	703	10	8	SUCCESS
KLHDC1	122773	.	GRCh37	14	50218653	50218653	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1337476598	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	37	87	0	ENST00000359332.2:c.*163A>G			ENST00000359332	NM_172193.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9692.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGATATTAAT	NONE	.	.	.	.	.	ENSP00000352282	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000359332	Transcript	.	.	ENSG00000197776	19836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLDC1_HUMAN	KLHDC1	HGNC	G3V5V5_HUMAN	.	UPI0000072D4D	SNV	KLHDC1,3_prime_UTR_variant,,ENST00000359332,;KLHDC1,downstream_gene_variant,,ENST00000554512,;KLHDC1,downstream_gene_variant,,ENST00000556392,;KLHDC1,downstream_gene_variant,,ENST00000555704,;	1474	87	101	SUCCESS
L2HGDH	79944	.	GRCh37	14	50713533	50713533	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	15	0	ENST00000267436.4:c.*243A>G			ENST00000267436				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9698.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGCTCGGTT	NONE	.	.	.	.	.	ENSP00000267436	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000267436	Transcript	.	.	ENSG00000087299	20499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L2HDH_HUMAN	L2HGDH	HGNC	.	.	UPI0000048F63	SNV	L2HGDH,3_prime_UTR_variant,,ENST00000267436,;L2HGDH,intron_variant,,ENST00000421284,;L2HGDH,intron_variant,,ENST00000261699,;	2033	15	20	SUCCESS
AL133373.1	0	.	GRCh37	14	92040500	92040500	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	57	165	0	ENST00000596306.1:c.*10C>A			ENST00000596306				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGACGCAAAG	NONE	.	.	.	.	.	ENSP00000472226	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000596306	Transcript	.	.	ENSG00000268657	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	AL133373.1	Clone_based_ensembl_gene	M0R207_HUMAN	.	UPI0000141AC8	SNV	AL133373.1,3_prime_UTR_variant,,ENST00000596306,;	884	165	141	SUCCESS
NPAP1	23742	.	GRCh37	15	24927519	24927519	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	32	81	0	ENST00000329468.2:c.*3034T>A			ENST00000329468	NM_018958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCTTGACAT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6979	81	78	SUCCESS
CA7	766	.	GRCh37	16	66887479	66887479	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	30	0	ENST00000338437.2:c.*78A>T			ENST00000338437	NM_005182.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10821.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTGAGGCTT	NONE	.	.	.	.	.	ENSP00000345659	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000338437	Transcript	.	.	ENSG00000168748	1381	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH7_HUMAN	CA7	HGNC	.	.	UPI000000D814	SNV	CA7,3_prime_UTR_variant,,ENST00000394069,;CA7,3_prime_UTR_variant,,ENST00000338437,;NAE1,intron_variant,,ENST00000561579,;RP11-61A14.1,upstream_gene_variant,,ENST00000551187,;CA7,3_prime_UTR_variant,,ENST00000548332,;	982	30	18	SUCCESS
MC1R	4157	.	GRCh37	16	89987254	89987254	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs562259741	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	10	81	0	ENST00000555147.1:c.*634G>T			ENST00000555147	NM_002386.3			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS56011.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGGCCTCA	NONE	by1000G	.	.	T:0	.	ENSP00000451605	T:0	1/1	.	.	.	.	.	.	.	.	rs562259741	1/1	PASS	ENST00000555147	Transcript	.	T:0.0002	ENSG00000258839	6929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	MSHR_HUMAN	MC1R	HGNC	Q1JUL4_HUMAN	.	UPI00000622C3	SNV	MC1R,3_prime_UTR_variant,,ENST00000555147,;MC1R,3_prime_UTR_variant,,ENST00000555427,;TUBB3,intron_variant,,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000315491,;TUBB3,upstream_gene_variant,,ENST00000556565,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000555576,;RP11-566K11.4,intron_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000553656,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000554927,;TUBB3,upstream_gene_variant,,ENST00000557262,;AC092143.1,non_coding_transcript_exon_variant,,ENST00000540694,;	2968	81	96	SUCCESS
KCNH6	81033	.	GRCh37	17	61623312	61623312	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	22	0	ENST00000583023.1:c.*49A>C			ENST00000583023	NM_030779.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11638.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAGAGTTAA	NONE	.	.	.	.	.	ENSP00000463533	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000583023	Transcript	.	.	ENSG00000173826	18862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNH6_HUMAN	KCNH6	HGNC	.	.	UPI000012DCAB	SNV	KCNH6,splice_region_variant,,ENST00000581784,;KCNH6,3_prime_UTR_variant,,ENST00000583023,;KCNH6,3_prime_UTR_variant,,ENST00000456941,;KCNH6,3_prime_UTR_variant,,ENST00000314672,;DCAF7,upstream_gene_variant,,ENST00000310827,;DCAF7,upstream_gene_variant,,ENST00000431926,;DCAF7,upstream_gene_variant,,ENST00000415273,;DCAF7,upstream_gene_variant,,ENST00000582274,;DCAF7,upstream_gene_variant,,ENST00000582103,;DCAF7,upstream_gene_variant,,ENST00000585252,;DCAF7,upstream_gene_variant,,ENST00000577702,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	3045	22	15	SUCCESS
FGF11	2256	.	GRCh37	17	7348297	7348297	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	8	26	0				ENST00000293829	NM_004112.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11106.1	.	MUTECT|MUSE	.	GTTGCTCGAGG	NONE	.	83	.	.	.	ENSP00000304290	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306071	Transcript	.	.	ENSG00000170175	1961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHB_HUMAN	CHRNB1	HGNC	I3L535_HUMAN,B7Z5H1_HUMAN,B7Z2M6_HUMAN	.	UPI0000125257	SNV	CHRNB1,upstream_gene_variant,,ENST00000570557,;FGF11,downstream_gene_variant,,ENST00000575235,;CHRNB1,upstream_gene_variant,,ENST00000536404,;FGF11,downstream_gene_variant,,ENST00000575082,;FGF11,downstream_gene_variant,,ENST00000293829,;FGF11,downstream_gene_variant,,ENST00000575398,;CHRNB1,upstream_gene_variant,,ENST00000576360,;CHRNB1,upstream_gene_variant,,ENST00000306071,;CHRNB1,upstream_gene_variant,,ENST00000572857,;FGF11,downstream_gene_variant,,ENST00000572907,;RP11-104H15.8,upstream_gene_variant,,ENST00000576615,;RP11-104H15.10,non_coding_transcript_exon_variant,,ENST00000575331,;RP11-104H15.7,downstream_gene_variant,,ENST00000575310,;CHRNB1,upstream_gene_variant,,ENST00000574054,;FGF11,downstream_gene_variant,,ENST00000576328,;CHRNB1,upstream_gene_variant,,ENST00000573209,;	.	26	9	SUCCESS
LRP3	4037	.	GRCh37	19	33698595	33698595	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs898497884	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	10	0	ENST00000253193.7:c.*114C>T			ENST00000253193	NM_002333.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12430.1	.	RADIA|MUTECT|MUSE	.	CCCAGCGGAGG	NONE	.	.	.	.	.	ENSP00000253193	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000253193	Transcript	.	.	ENSG00000130881	6695	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRP3_HUMAN	LRP3	HGNC	.	.	UPI0000047A9C	SNV	LRP3,3_prime_UTR_variant,,ENST00000253193,;SLC7A10,downstream_gene_variant,,ENST00000253188,;LRP3,downstream_gene_variant,,ENST00000592484,;CTD-2540B15.13,downstream_gene_variant,,ENST00000609744,;SLC7A10,downstream_gene_variant,,ENST00000590490,;SLC7A10,downstream_gene_variant,,ENST00000592596,;LRP3,downstream_gene_variant,,ENST00000590275,;LRP3,downstream_gene_variant,,ENST00000590278,;SLC7A10,downstream_gene_variant,,ENST00000590036,;SLC7A10,downstream_gene_variant,,ENST00000587064,;	2629	10	11	SUCCESS
ZNF813	126017	.	GRCh37	19	53996020	53996020	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1008304704	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	12	0	ENST00000396403.4:c.*680C>T			ENST00000396403	NM_001004301.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46172.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGGCGAACT	NONE	.	.	.	.	.	ENSP00000379684	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396403	Transcript	.	.	ENSG00000198346	33257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN813_HUMAN	ZNF813	HGNC	C9JZ01_HUMAN	.	UPI000040C511	SNV	ZNF813,3_prime_UTR_variant,,ENST00000396403,;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	2662	12	17	SUCCESS
PRRC2C	23215	.	GRCh37	1	171561054	171561054	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	30	101	0	ENST00000338920.4:c.*68C>G			ENST00000338920	NM_015172.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1296.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGCTGGCA	NONE	.	.	.	.	.	ENSP00000343629	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000338920	Transcript	.	.	ENSG00000117523	24903	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRC2C_HUMAN	PRRC2C	HGNC	.	.	UPI0000E265EC	SNV	PRRC2C,3_prime_UTR_variant,,ENST00000338920,;PRRC2C,3_prime_UTR_variant,,ENST00000367742,;PRRC2C,3_prime_UTR_variant,,ENST00000495585,;PRRC2C,downstream_gene_variant,,ENST00000426496,;PRRC2C,downstream_gene_variant,,ENST00000392078,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000498596,;PRRC2C,downstream_gene_variant,,ENST00000492811,;	8759	102	84	SUCCESS
PLK3	1263	.	GRCh37	1	45271451	45271451	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs554503154	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	23	0	ENST00000372201.4:c.*101G>A			ENST00000372201	NM_004073.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS515.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCGAATCC	NONE	by1000G	.	.	A:0.001	.	ENSP00000361275	A:0	15/15	.	.	.	.	.	.	.	.	rs554503154	15/15	PASS	ENST00000372201	Transcript	.	A:0.0002	ENSG00000173846	2154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	PLK3_HUMAN	PLK3	HGNC	.	.	UPI000013ED1D	SNV	PLK3,3_prime_UTR_variant,,ENST00000372201,;BTBD19,upstream_gene_variant,,ENST00000450269,;TCTEX1D4,downstream_gene_variant,,ENST00000372200,;BTBD19,upstream_gene_variant,,ENST00000409335,;BTBD19,upstream_gene_variant,,ENST00000453418,;TCTEX1D4,downstream_gene_variant,,ENST00000339355,;PLK3,non_coding_transcript_exon_variant,,ENST00000492398,;PLK3,non_coding_transcript_exon_variant,,ENST00000465443,;PLK3,downstream_gene_variant,,ENST00000476731,;PLK3,downstream_gene_variant,,ENST00000493100,;PLK3,downstream_gene_variant,,ENST00000461769,;PLK3,downstream_gene_variant,,ENST00000461358,;BTBD19,upstream_gene_variant,,ENST00000485668,;BTBD19,upstream_gene_variant,,ENST00000439563,;BTBD19,upstream_gene_variant,,ENST00000482715,;BTBD19,upstream_gene_variant,,ENST00000475105,;	2281	23	15	SUCCESS
AMMECR1L	83607	.	GRCh37	2	128622659	128622659	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	20	53	0	ENST00000272647.5:c.*9T>A			ENST00000272647	NM_001199140.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2152.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAGCCGT	NONE	.	.	.	.	.	ENSP00000272647	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000272647	Transcript	.	.	ENSG00000144233	28658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMERL_HUMAN	AMMECR1L	HGNC	.	.	UPI000013D96F	SNV	AMMECR1L,3_prime_UTR_variant,,ENST00000393001,;AMMECR1L,3_prime_UTR_variant,,ENST00000272647,;	1203	53	27	SUCCESS
PLEKHA3	65977	.	GRCh37	2	179368870	179368870	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	18	0	ENST00000234453.5:c.*256A>G			ENST00000234453	NM_019091.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33336.1	.	MUTECT|MUSE	.	GTAACATTTTG	NONE	.	.	.	.	.	ENSP00000234453	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000234453	Transcript	.	.	ENSG00000116095	14338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHA3_HUMAN	PLEKHA3	HGNC	.	.	UPI000000DA8A	SNV	PLEKHA3,3_prime_UTR_variant,,ENST00000234453,;PLEKHA3,downstream_gene_variant,,ENST00000421187,;	1561	18	9	SUCCESS
ACP1	52	.	GRCh37	2	277439	277440	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	52	20	50	0	ENST00000272065.5:c.*140dup			ENST00000272065	NM_004300.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1640.1	.	INDELOCATOR*|PINDEL	.	TACCTTAAAAA	NONE	.	.	.	.	.	ENSP00000272067	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000272067	Transcript	.	.	ENSG00000143727	122	5	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPAC_HUMAN	ACP1	HGNC	.	.	UPI0000000C82	insertion	ACP1,3_prime_UTR_variant,,ENST00000272065,;ACP1,3_prime_UTR_variant,,ENST00000272067,;ACP1,downstream_gene_variant,,ENST00000439645,;FAM150B,downstream_gene_variant,,ENST00000344414,;ACP1,downstream_gene_variant,,ENST00000407983,;ACP1,downstream_gene_variant,,ENST00000405233,;FAM150B,downstream_gene_variant,,ENST00000403610,;FAM150B,downstream_gene_variant,,ENST00000401503,;FAM150B,downstream_gene_variant,,ENST00000401489,;FAM150B,downstream_gene_variant,,ENST00000405290,;ACP1,downstream_gene_variant,,ENST00000484464,;ACP1,3_prime_UTR_variant,,ENST00000413140,;ACP1,non_coding_transcript_exon_variant,,ENST00000463831,;ACP1,downstream_gene_variant,,ENST00000480874,;ACP1,downstream_gene_variant,,ENST00000405364,;ACP1,downstream_gene_variant,,ENST00000453390,;ACP1,downstream_gene_variant,,ENST00000442386,;	708-709	50	72	SUCCESS
LHCGR	3973	.	GRCh37	2	48914826	48914826	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1320712684	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	34	81	1	ENST00000294954.7:c.*10C>T			ENST00000294954	NM_000233.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1842.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTGATGTA	NONE	.	.	.	.	.	ENSP00000294954	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000294954	Transcript	.	.	ENSG00000138039	6585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LSHR_HUMAN	LHCGR	HGNC	Q53S49_HUMAN,Q4ZFZ4_HUMAN	.	UPI000013E1E1	SNV	LHCGR,3_prime_UTR_variant,,ENST00000403273,;LHCGR,3_prime_UTR_variant,,ENST00000405626,;LHCGR,3_prime_UTR_variant,,ENST00000401907,;LHCGR,3_prime_UTR_variant,,ENST00000344775,;LHCGR,3_prime_UTR_variant,,ENST00000294954,;GTF2A1L,intron_variant,,ENST00000508440,;STON1-GTF2A1L,intron_variant,,ENST00000402114,;	2132	82	76	SUCCESS
B3GNT5	84002	.	GRCh37	3	182988793	182988793	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	52	139	1	ENST00000326505.3:c.*70C>A			ENST00000326505	NM_032047.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3244.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCGTCTA	NONE	.	.	.	.	.	ENSP00000316173	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326505	Transcript	.	.	ENSG00000176597	15684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GN5_HUMAN	B3GNT5	HGNC	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN	.	UPI000003D75E	SNV	B3GNT5,3_prime_UTR_variant,,ENST00000460419,;B3GNT5,3_prime_UTR_variant,,ENST00000326505,;B3GNT5,3_prime_UTR_variant,,ENST00000465010,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000481531,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;	1737	140	132	SUCCESS
CCDC51	79714	.	GRCh37	3	48473668	48473668	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1286846485	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	12	0	ENST00000395694.2:c.*150G>A			ENST00000395694	NM_001256964.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2766.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGCGAAGC	NONE	.	.	.	.	.	ENSP00000379047	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395694	Transcript	.	.	ENSG00000164051	25714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCD51_HUMAN	CCDC51	HGNC	C9JSW8_HUMAN,C9JPZ8_HUMAN	.	UPI00005A7643	SNV	CCDC51,3_prime_UTR_variant,,ENST00000447018,;CCDC51,3_prime_UTR_variant,,ENST00000412398,;CCDC51,3_prime_UTR_variant,,ENST00000395694,;CCDC51,3_prime_UTR_variant,,ENST00000442740,;CCDC51,3_prime_UTR_variant,,ENST00000395696,;PLXNB1,upstream_gene_variant,,ENST00000448774,;PLXNB1,upstream_gene_variant,,ENST00000358536,;PLXNB1,upstream_gene_variant,,ENST00000296440,;CCDC51,downstream_gene_variant,,ENST00000438370,;PLXNB1,upstream_gene_variant,,ENST00000358459,;CCDC51,downstream_gene_variant,,ENST00000446140,;PLXNB1,upstream_gene_variant,,ENST00000466353,;	1472	12	15	SUCCESS
NOP14	8602	.	GRCh37	4	2940402	2940402	+	intron_variant	Intron	SNP	T	T	G	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	12	29	0	ENST00000314262.6:c.*19+137A>C			ENST00000314262	NM_003703.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33945.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATTTTTATG	NONE	.	.	.	.	.	ENSP00000405068	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000416614	Transcript	.	.	ENSG00000087269	16821	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOP14_HUMAN	NOP14	HGNC	.	.	UPI00001A9472	SNV	NOP14,3_prime_UTR_variant,,ENST00000416614,;NOP14,intron_variant,,ENST00000398071,;NOP14,intron_variant,,ENST00000314262,;NOP14,intron_variant,,ENST00000502735,;MFSD10,upstream_gene_variant,,ENST00000508221,;MFSD10,upstream_gene_variant,,ENST00000507555,;MFSD10,upstream_gene_variant,,ENST00000355443,;MFSD10,upstream_gene_variant,,ENST00000514800,;MFSD10,upstream_gene_variant,,ENST00000329687,;NOP14-AS1,intron_variant,,ENST00000515194,;NOP14-AS1,intron_variant,,ENST00000507702,;NOP14-AS1,intron_variant,,ENST00000503709,;NOP14-AS1,intron_variant,,ENST00000505731,;NOP14-AS1,intron_variant,,ENST00000512802,;NOP14-AS1,intron_variant,,ENST00000507999,;NOP14-AS1,intron_variant,,ENST00000512712,;NOP14,intron_variant,,ENST00000507120,;MFSD10,upstream_gene_variant,,ENST00000509676,;MFSD10,upstream_gene_variant,,ENST00000503596,;MFSD10,upstream_gene_variant,,ENST00000507272,;	2796	29	26	SUCCESS
NUDT12	83594	.	GRCh37	5	102886412	102886412	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	21	0	ENST00000230792.2:c.*150A>T			ENST00000230792	NM_031438.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4096.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGATTAAGAC	NONE	.	.	.	.	.	ENSP00000230792	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000230792	Transcript	.	.	ENSG00000112874	18826	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUD12_HUMAN	NUDT12	HGNC	.	.	UPI0000073C53	SNV	NUDT12,3_prime_UTR_variant,,ENST00000507423,;NUDT12,3_prime_UTR_variant,,ENST00000230792,;NUDT12,downstream_gene_variant,,ENST00000515407,;	1636	21	18	SUCCESS
SGK1	6446	.	GRCh37	6	134496829	134496829	+	upstream_gene_variant	5'Flank	SNP	C	C	G	rs899505819	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	20	34	0				ENST00000237305	NM_005627.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47476.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAGACGAGAG	NONE	.	.	.	.	.	ENSP00000356832	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000367858	Transcript	.	.	ENSG00000118515	10810	.	.	MODIFIER	3/13	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SGK1_HUMAN	SGK1	HGNC	E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN	.	UPI000013CA0E	SNV	SGK1,5_prime_UTR_variant,,ENST00000413996,;SGK1,intron_variant,,ENST00000367858,;SGK1,intron_variant,,ENST00000528577,;SGK1,intron_variant,,ENST00000461976,;SGK1,upstream_gene_variant,,ENST00000237305,;SGK1,upstream_gene_variant,,ENST00000367857,;SGK1,upstream_gene_variant,,ENST00000475719,;SGK1,intron_variant,,ENST00000524387,;SGK1,intron_variant,,ENST00000531575,;SGK1,downstream_gene_variant,,ENST00000484353,;SGK1,upstream_gene_variant,,ENST00000489458,;SGK1,intron_variant,,ENST00000532021,;SGK1,intron_variant,,ENST00000525700,;SGK1,upstream_gene_variant,,ENST00000534658,;SGK1,upstream_gene_variant,,ENST00000524764,;SGK1,upstream_gene_variant,,ENST00000531782,;SGK1,upstream_gene_variant,,ENST00000530421,;SGK1,upstream_gene_variant,,ENST00000473704,;SGK1,upstream_gene_variant,,ENST00000474427,;SGK1,upstream_gene_variant,,ENST00000477460,;SGK1,upstream_gene_variant,,ENST00000472859,;SGK1,upstream_gene_variant,,ENST00000532856,;SGK1,upstream_gene_variant,,ENST00000525877,;SGK1,upstream_gene_variant,,ENST00000475882,;SGK1,upstream_gene_variant,,ENST00000490149,;SGK1,upstream_gene_variant,,ENST00000367855,;	.	34	34	SUCCESS
COG5	10466	.	GRCh37	7	106843944	106843944	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	65	0	ENST00000347053.3:c.*17T>G			ENST00000347053	NM_181733.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5742.1	.	MUTECT|MUSE	.	GATGAACAAAG	NONE	.	.	.	.	.	ENSP00000297135	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000297135	Transcript	.	.	ENSG00000164597	14857	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COG5_HUMAN	COG5	HGNC	U3KQU7_HUMAN,B3KMW0_HUMAN	.	UPI0000246D05	SNV	COG5,3_prime_UTR_variant,,ENST00000347053,;COG5,3_prime_UTR_variant,,ENST00000297135,;HBP1,downstream_gene_variant,,ENST00000468410,;HBP1,downstream_gene_variant,,ENST00000607681,;HBP1,downstream_gene_variant,,ENST00000222574,;COG5,downstream_gene_variant,,ENST00000393603,;HBP1,downstream_gene_variant,,ENST00000485846,;HBP1,downstream_gene_variant,,ENST00000461963,;HBP1,downstream_gene_variant,,ENST00000463202,;HBP1,downstream_gene_variant,,ENST00000463790,;	3125	65	58	SUCCESS
PDP1	54704	.	GRCh37	8	94937359	94937359	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	41	123	0	ENST00000297598.4:c.*1458G>A			ENST00000297598	NM_018444.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55262.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGTTTAG	NONE	.	.	.	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	SNV	PDP1,3_prime_UTR_variant,,ENST00000396200,;PDP1,3_prime_UTR_variant,,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000517764,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000520728,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	3423	123	118	SUCCESS
RABGAP1	23637	.	GRCh37	9	125865642	125865642	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs190973363	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	16	0	ENST00000373647.4:c.*150C>A			ENST00000373647	NM_012197.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6848.2	.	RADIA|MUTECT|MUSE	.	CAGAGCTTGTG	NONE	by1000G	.	.	.	.	ENSP00000362751	.	26/26	.	.	.	.	.	.	.	.	rs190973363	26/26	PASS	ENST00000373647	Transcript	.	.	ENSG00000011454	17155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBGP1_HUMAN	RABGAP1	HGNC	B7Z2B4_HUMAN,B5MCD9_HUMAN	.	UPI00000373F8	SNV	RABGAP1,3_prime_UTR_variant,,ENST00000373643,;RABGAP1,3_prime_UTR_variant,,ENST00000373647,;RABGAP1,downstream_gene_variant,,ENST00000456584,;	3494	16	10	SUCCESS
MED14	9282	.	GRCh37	X	40510901	40510901	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE2-01	TCGA-DD-AAE2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	47	55	0	ENST00000324817.1:c.*157C>T			ENST00000324817	NM_004229.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTGATGAA	NONE	.	.	.	.	.	ENSP00000323720	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000324817	Transcript	.	.	ENSG00000180182	2370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MED14_HUMAN	MED14	HGNC	.	.	UPI00001414B1	SNV	MED14,3_prime_UTR_variant,,ENST00000324817,;MED14,intron_variant,,ENST00000416199,;MED14,downstream_gene_variant,,ENST00000433003,;CXorf38,upstream_gene_variant,,ENST00000327877,;CXorf38,upstream_gene_variant,,ENST00000378418,;CXorf38,upstream_gene_variant,,ENST00000378421,;CXorf38,upstream_gene_variant,,ENST00000440784,;CXorf38,upstream_gene_variant,,ENST00000378426,;	4641	55	61	SUCCESS
NANOS1	340719	.	GRCh37	10	120791820	120791820	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	13	91	0	ENST00000425699.1:c.*1628T>C			ENST00000425699	NM_199461.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7607.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCATTTCAA	NONE	.	.	.	.	.	ENSP00000393275	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000425699	Transcript	1	.	ENSG00000188613	23044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANO1_HUMAN	NANOS1	HGNC	Q5T9H5_HUMAN	.	UPI00001D68E9	SNV	NANOS1,3_prime_UTR_variant,,ENST00000425699,;EIF3A,downstream_gene_variant,,ENST00000541549,;NANOS1,downstream_gene_variant,,ENST00000340087,;EIF3A,downstream_gene_variant,,ENST00000369144,;	2593	91	79	SUCCESS
ADO	84890	.	GRCh37	10	64568212	64568212	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1005642893	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	14	44	0	ENST00000373783.1:c.*2580A>G			ENST00000373783	NM_032804.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7266.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAATAAAT	NONE	.	.	.	.	.	ENSP00000362888	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373783	Transcript	.	.	ENSG00000181915	23506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AEDO_HUMAN	ADO	HGNC	.	.	UPI00001F8D78	SNV	ADO,3_prime_UTR_variant,,ENST00000373783,;EGR2,downstream_gene_variant,,ENST00000439032,;EGR2,downstream_gene_variant,,ENST00000242480,;EGR2,downstream_gene_variant,,ENST00000411732,;RP11-436D10.3,upstream_gene_variant,,ENST00000425290,;	3697	44	60	SUCCESS
FSHB	2488	.	GRCh37	11	30255507	30255507	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	14	0	ENST00000254122.3:c.*160A>G			ENST00000254122	NM_000510.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7868.1	.	MUTECT|MUSE	.	AATTGAGAGTG	NONE	.	.	.	.	.	ENSP00000416606	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000417547	Transcript	.	.	ENSG00000131808	3964	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FSHB_HUMAN	FSHB	HGNC	Q27RP3_HUMAN,Q1W658_HUMAN	.	UPI000003FF95	SNV	FSHB,3_prime_UTR_variant,,ENST00000533718,;FSHB,3_prime_UTR_variant,,ENST00000417547,;FSHB,3_prime_UTR_variant,,ENST00000254122,;	589	14	20	SUCCESS
KLC2	64837	.	GRCh37	11	66034923	66034923	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	33	75	1	ENST00000316924.5:c.*496G>T			ENST00000316924	NM_022822.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8130.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCGTGCGG	NONE	.	.	.	.	.	ENSP00000399403	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000417856	Transcript	.	.	ENSG00000174996	20716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLC2_HUMAN	KLC2	HGNC	E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN	.	UPI0000001645	SNV	KLC2,3_prime_UTR_variant,,ENST00000316924,;KLC2,3_prime_UTR_variant,,ENST00000394078,;KLC2,3_prime_UTR_variant,,ENST00000417856,;KLC2,3_prime_UTR_variant,,ENST00000394066,;KLC2,3_prime_UTR_variant,,ENST00000421552,;KLC2,3_prime_UTR_variant,,ENST00000394067,;KLC2,3_prime_UTR_variant,,ENST00000394065,;RAB1B,upstream_gene_variant,,ENST00000311481,;RAB1B,upstream_gene_variant,,ENST00000527397,;KLC2,downstream_gene_variant,,ENST00000461611,;RP11-867G23.3,downstream_gene_variant,,ENST00000501708,;RP11-867G23.2,downstream_gene_variant,,ENST00000533287,;RP11-867G23.1,upstream_gene_variant,,ENST00000530805,;KLC2,downstream_gene_variant,,ENST00000483152,;KLC2,downstream_gene_variant,,ENST00000534023,;	2608	76	94	SUCCESS
FREM2	341640	.	GRCh37	13	39455009	39455009	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	28	0	ENST00000280481.7:c.*85A>G			ENST00000280481	NM_207361.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31960.1	.	MUTECT|MUSE	.	CATAGAGAATG	NONE	.	.	.	.	.	ENSP00000280481	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000280481	Transcript	.	.	ENSG00000150893	25396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FREM2_HUMAN	FREM2	HGNC	.	.	UPI00005520B9	SNV	FREM2,3_prime_UTR_variant,,ENST00000280481,;	9811	28	26	SUCCESS
IPO5	3843	.	GRCh37	13	98674169	98674169	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	17	0	ENST00000357602.3:c.*93T>C			ENST00000357602				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31999.1	.	MUTECT|MUSE	.	AGAGATCGGTA	NONE	.	.	.	.	.	ENSP00000261574	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000261574	Transcript	.	.	ENSG00000065150	6402	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IPO5_HUMAN	IPO5	HGNC	Q9BVS9_HUMAN,E7EX05_HUMAN,E7EWK4_HUMAN,E7ETV3_HUMAN,E7ESZ1_HUMAN,E7ESA1_HUMAN,C9JZD8_HUMAN,C9JZ53_HUMAN,C9JXE0_HUMAN,C9JQT6_HUMAN,C9J875_HUMAN,B3KWG6_HUMAN	.	UPI0000163C1C	SNV	IPO5,3_prime_UTR_variant,,ENST00000261574,;IPO5,3_prime_UTR_variant,,ENST00000469360,;IPO5,3_prime_UTR_variant,,ENST00000357602,;IPO5,downstream_gene_variant,,ENST00000490680,;IPO5,downstream_gene_variant,,ENST00000539640,;IPO5,non_coding_transcript_exon_variant,,ENST00000491555,;IPO5,downstream_gene_variant,,ENST00000493122,;IPO5,downstream_gene_variant,,ENST00000468620,;	3621	17	13	SUCCESS
SNN	8303	.	GRCh37	16	11770725	11770725	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1205242823	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	51	98	0	ENST00000329565.5:c.*543A>G			ENST00000329565	NM_003498.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCAATTTG	NONE	.	.	.	.	.	ENSP00000329287	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329565	Transcript	.	.	ENSG00000184602	11149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNN_HUMAN	SNN	HGNC	.	.	UPI0000001656	SNV	SNN,3_prime_UTR_variant,,ENST00000329565,;TXNDC11,downstream_gene_variant,,ENST00000356957,;TXNDC11,downstream_gene_variant,,ENST00000283033,;TXNDC11,downstream_gene_variant,,ENST00000570917,;	1022	98	146	SUCCESS
C17orf75	64149	.	GRCh37	17	30658777	30658777	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	98	0	ENST00000577809.1:c.*5A>T			ENST00000577809	NM_022344.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58537.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATATGAT	NONE	.	.	.	.	.	ENSP00000464275	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000577809	Transcript	.	.	ENSG00000108666	30173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NJMU_HUMAN	C17orf75	HGNC	Q8NI83_HUMAN,K7ERX0_HUMAN,K7EIQ2_HUMAN,K7EII1_HUMAN,J3KRR1_HUMAN	.	UPI00001AE577	SNV	C17orf75,3_prime_UTR_variant,,ENST00000582961,;C17orf75,3_prime_UTR_variant,,ENST00000577809,;C17orf75,3_prime_UTR_variant,,ENST00000225805,;C17orf75,intron_variant,,ENST00000583104,;C17orf75,downstream_gene_variant,,ENST00000580558,;C17orf75,downstream_gene_variant,,ENST00000583334,;C17orf75,downstream_gene_variant,,ENST00000581747,;C17orf75,downstream_gene_variant,,ENST00000583774,;RP11-227G15.2,downstream_gene_variant,,ENST00000580360,;RP11-227G15.3,intron_variant,,ENST00000578389,;RP11-227G15.3,intron_variant,,ENST00000581915,;C17orf75,downstream_gene_variant,,ENST00000578215,;C17orf75,downstream_gene_variant,,ENST00000583221,;	1246	98	78	SUCCESS
P2RX5-TAX1BP3	100533970	.	GRCh37	17	3573010	3573010	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	22	0	ENST00000550383.1:c.*2738T>G			ENST00000550383				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11034.1	.	MUTECT|MUSE	.	GCAAAATCGCC	NONE	.	3511	.	.	.	ENSP00000225328	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000225328	Transcript	.	.	ENSG00000083454	8536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P2RX5_HUMAN	P2RX5	HGNC	.	.	UPI0000074324	SNV	P2RX5,downstream_gene_variant,,ENST00000435558,;P2RX5,downstream_gene_variant,,ENST00000552050,;P2RX5,downstream_gene_variant,,ENST00000552276,;P2RX5,downstream_gene_variant,,ENST00000551178,;TAX1BP3,upstream_gene_variant,,ENST00000225525,;P2RX5,downstream_gene_variant,,ENST00000547178,;P2RX5,downstream_gene_variant,,ENST00000345901,;P2RX5,downstream_gene_variant,,ENST00000225328,;EMC6,downstream_gene_variant,,ENST00000397133,;EMC6,downstream_gene_variant,,ENST00000248378,;P2RX5-TAX1BP3,3_prime_UTR_variant,,ENST00000550383,;P2RX5,downstream_gene_variant,,ENST00000549063,;P2RX5,downstream_gene_variant,,ENST00000552456,;RP11-48B14.1,downstream_gene_variant,,ENST00000486753,;	.	22	25	SUCCESS
ZNF738	148203	.	GRCh37	19	21561226	21561226	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	41	141	0	ENST00000311015.3:c.*941T>G			ENST00000311015				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATTTGGTT	NONE	.	.	.	.	.	ENSP00000311957	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000311015	Transcript	.	.	ENSG00000172687	32469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN738_HUMAN	ZNF738	HGNC	.	.	UPI000006D73F	SNV	ZNF738,3_prime_UTR_variant,,ENST00000311015,;ZNF738,intron_variant,,ENST00000380870,;ZNF738,downstream_gene_variant,,ENST00000597810,;ZNF738,downstream_gene_variant,,ENST00000597492,;CTD-2561J22.1,downstream_gene_variant,,ENST00000597319,;CTD-2561J22.2,upstream_gene_variant,,ENST00000594254,;	1566	141	141	SUCCESS
ZNF98	148198	.	GRCh37	19	22574065	22574065	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	7	33	0	ENST00000357774.5:c.*253G>T			ENST00000357774	NM_001098626.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46031.1	.	MUTECT|MUSE	.	TTGCACCTTTA	NONE	.	.	.	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,3_prime_UTR_variant,,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	2094	33	40	SUCCESS
NDUFA3	4696	.	GRCh37	19	54611772	54611772	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	101	25	122	0	ENST00000419113.1:c.*102A>G			ENST00000419113				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12877.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATAGAGCT	NONE	.	897	.	.	.	ENSP00000418438	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000485876	Transcript	.	.	ENSG00000170906	7686	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDUA3_HUMAN	NDUFA3	HGNC	S4R3I5_HUMAN,Q6FGG4_HUMAN	.	UPI000013004B	SNV	NDUFA3,missense_variant,p.Ile63Met,ENST00000391764,;TFPT,intron_variant,,ENST00000391759,;TFPT,intron_variant,,ENST00000391757,;TFPT,intron_variant,,ENST00000391758,;NDUFA3,downstream_gene_variant,,ENST00000420296,;NDUFA3,downstream_gene_variant,,ENST00000485876,;NDUFA3,downstream_gene_variant,,ENST00000391762,;NDUFA3,downstream_gene_variant,,ENST00000391763,;NDUFA3,downstream_gene_variant,,ENST00000303553,;NDUFA3,downstream_gene_variant,,ENST00000471292,;NDUFA3,upstream_gene_variant,,ENST00000480713,;NDUFA3,upstream_gene_variant,,ENST00000482960,;NDUFA3,3_prime_UTR_variant,,ENST00000422029,;NDUFA3,3_prime_UTR_variant,,ENST00000419113,;TFPT,intron_variant,,ENST00000420715,;NDUFA3,downstream_gene_variant,,ENST00000484103,;NDUFA3,downstream_gene_variant,,ENST00000451517,;NDUFA3,downstream_gene_variant,,ENST00000417903,;	.	123	126	SUCCESS
NHLH1	4807	.	GRCh37	1	160342079	160342079	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	43	0	ENST00000302101.5:c.*1156C>T			ENST00000302101	NM_005598.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1204.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CATTTCTGTGC	NONE	.	.	.	.	.	ENSP00000302189	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302101	Transcript	.	.	ENSG00000171786	7817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HEN1_HUMAN	NHLH1	HGNC	Q5T203_HUMAN	.	UPI000012C5FE	SNV	NHLH1,3_prime_UTR_variant,,ENST00000302101,;	2004	43	57	SUCCESS
INPP5B	3633	.	GRCh37	1	38327880	38327880	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs780313092	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	28	0	ENST00000373023.2:c.*107A>G			ENST00000373023	NM_005540.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41306.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCATTCTTG	NONE	.	.	.	.	.	ENSP00000362115	.	24/24	.	.	.	.	.	.	.	.	rs780313092	24/24	PASS	ENST00000373024	Transcript	.	.	ENSG00000204084	6077	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	I5P2_HUMAN	INPP5B	HGNC	.	.	UPI0000458AD7	SNV	INPP5B,3_prime_UTR_variant,,ENST00000373026,;INPP5B,3_prime_UTR_variant,,ENST00000373027,;INPP5B,3_prime_UTR_variant,,ENST00000373023,;INPP5B,3_prime_UTR_variant,,ENST00000373024,;MTF1,upstream_gene_variant,,ENST00000373036,;RP11-109P14.10,downstream_gene_variant,,ENST00000419993,;INPP5B,downstream_gene_variant,,ENST00000470364,;MTF1,upstream_gene_variant,,ENST00000468190,;INPP5B,downstream_gene_variant,,ENST00000487328,;	2937	28	22	SUCCESS
NXT1	29107	.	GRCh37	20	23335158	23335158	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	5	79	0	ENST00000254998.2:c.*57A>C			ENST00000254998	NM_013248.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13150.1	.	MUTECT|MUSE	.	ATGCAAACCTC	NONE	.	.	.	.	.	ENSP00000254998	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000254998	Transcript	.	.	ENSG00000132661	15913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NXT1_HUMAN	NXT1	HGNC	.	.	UPI0000111F8B	SNV	NXT1,3_prime_UTR_variant,,ENST00000254998,;AL096677.1,upstream_gene_variant,,ENST00000596205,;RP3-322G13.5,downstream_gene_variant,,ENST00000444981,;RP3-322G13.5,downstream_gene_variant,,ENST00000442440,;RP3-322G13.5,downstream_gene_variant,,ENST00000452395,;RP3-322G13.7,upstream_gene_variant,,ENST00000442884,;	867	79	144	SUCCESS
DSCR4	10281	.	GRCh37	21	39426854	39426854	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	60	0	ENST00000328264.3:c.*95T>A			ENST00000328264	NM_005867.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33554.1	.	MUTECT|MUSE	.	GTTGTAAACTG	NONE	.	.	.	.	.	ENSP00000328676	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328264	Transcript	.	.	ENSG00000184029	3045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSCR4_HUMAN	DSCR4	HGNC	.	.	UPI000012990C	SNV	DSCR4,3_prime_UTR_variant,,ENST00000328264,;DSCR4,intron_variant,,ENST00000398948,;	557	60	36	SUCCESS
TOMM22	56993	.	GRCh37	22	39079853	39079853	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs750854244	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	52	0	ENST00000216034.4:c.*7A>G			ENST00000216034	NM_020243.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13975.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTATTGCT	NONE	.	.	.	.	.	ENSP00000216034	.	4/4	.	.	.	.	.	.	.	.	rs750854244	4/4	PASS	ENST00000216034	Transcript	.	.	ENSG00000100216	18002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOM22_HUMAN	TOMM22	HGNC	Q549C5_HUMAN	.	UPI0000040C1F	SNV	TOMM22,3_prime_UTR_variant,,ENST00000216034,;JOSD1,downstream_gene_variant,,ENST00000545590,;JOSD1,downstream_gene_variant,,ENST00000216039,;RP3-508I15.9,upstream_gene_variant,,ENST00000444381,;RP3-508I15.9,upstream_gene_variant,,ENST00000431924,;RP3-508I15.9,upstream_gene_variant,,ENST00000412067,;TOMM22,non_coding_transcript_exon_variant,,ENST00000492561,;JOSD1,downstream_gene_variant,,ENST00000482442,;	467	52	48	SUCCESS
ANTXR1	84168	.	GRCh37	2	69475124	69475124	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1005749939	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	21	0	ENST00000303714.4:c.*2507T>C			ENST00000303714	NM_032208.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1892.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTATTTAGA	NONE	.	.	.	.	.	ENSP00000301945	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000303714	Transcript	.	.	ENSG00000169604	21014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANTR1_HUMAN	ANTXR1	HGNC	.	.	UPI0000049806	SNV	ANTXR1,3_prime_UTR_variant,,ENST00000303714,;RP11-85D18.1,downstream_gene_variant,,ENST00000604342,;	4524	21	16	SUCCESS
HTR1F	3355	.	GRCh37	3	88041511	88041511	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	151	112	344	0	ENST00000319595.4:c.*511A>C			ENST00000319595	NM_000866.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2920.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCAACTCT	NONE	.	.	.	.	.	ENSP00000322924	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000319595	Transcript	.	.	ENSG00000179097	5292	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	5HT1F_HUMAN	HTR1F	HGNC	Q9P2Q4_HUMAN	.	UPI00000503DF	SNV	HTR1F,3_prime_UTR_variant,,ENST00000319595,;	1666	344	263	SUCCESS
SPRY1	10252	.	GRCh37	4	124324121	124324121	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	7	74	0	ENST00000339241.1:c.*415A>G			ENST00000339241	NM_199327.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3731.1	.	MUTECT|MUSE|VARSCANS	.	CTTAAATAAGC	NONE	.	.	.	.	.	ENSP00000377871	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394339	Transcript	.	.	ENSG00000164056	11269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPY1_HUMAN	SPRY1	HGNC	D6RIE6_HUMAN,D6RHD2_HUMAN,D6REX7_HUMAN	.	UPI0000035D8F	SNV	SPRY1,3_prime_UTR_variant,,ENST00000339241,;SPRY1,3_prime_UTR_variant,,ENST00000394339,;SPRY1,downstream_gene_variant,,ENST00000508849,;SPRY1,downstream_gene_variant,,ENST00000505319,;SPRY1,downstream_gene_variant,,ENST00000507703,;SPRY1,downstream_gene_variant,,ENST00000515726,;	1715	74	74	SUCCESS
STIM2	57620	.	GRCh37	4	27024677	27024677	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1018453959	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	14	0	ENST00000467087.1:c.*59C>T			ENST00000467087	NM_020860.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54751.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCCTCCAC	NONE	.	.	.	.	.	ENSP00000417569	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000465503	Transcript	.	.	ENSG00000109689	19205	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	STIM2	HGNC	R4GNC5_HUMAN,R4GN82_HUMAN,R4GMP0_HUMAN,Q05BJ5_HUMAN,H0Y860_HUMAN	.	UPI0001B79443	SNV	STIM2,3_prime_UTR_variant,,ENST00000467011,;STIM2,3_prime_UTR_variant,,ENST00000412829,;STIM2,3_prime_UTR_variant,,ENST00000237364,;STIM2,3_prime_UTR_variant,,ENST00000467087,;STIM2,3_prime_UTR_variant,,ENST00000465503,;STIM2,3_prime_UTR_variant,,ENST00000382009,;STIM2,downstream_gene_variant,,ENST00000477474,;STIM2,downstream_gene_variant,,ENST00000473519,;STIM2,downstream_gene_variant,,ENST00000504511,;	2702	14	21	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86922120	86922120	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs924552823	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	12	0	ENST00000395184.1:c.*245C>T			ENST00000395184	NM_001025616.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34025.1	.	MUTECT|MUSE	.	GTAAACTAAAA	NONE	.	.	.	.	.	ENSP00000378611	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,3_prime_UTR_variant,,ENST00000264343,;ARHGAP24,3_prime_UTR_variant,,ENST00000395184,;ARHGAP24,3_prime_UTR_variant,,ENST00000395183,;ARHGAP24,downstream_gene_variant,,ENST00000514229,;RP13-514E23.2,upstream_gene_variant,,ENST00000610225,;	2958	12	15	SUCCESS
EHMT2	10919	.	GRCh37	6	31868471	31868472	+	upstream_gene_variant	5'Flank	INS	-	-	TCCTCA	rs758568983	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	26	0				ENST00000375537	NM_006709.3	204		0	.	.	.	.	.	TCCTCA	D/DED	protein_coding	YES	CCDS4727.1	611-612	INDELOCATOR|VARSCANI	.	GACACGTCCTC	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF45	.	.	ENSP00000364677	.	2/2	.	.	.	.	.	.	.	.	rs764477797	2/2	PASS	ENST00000375527	Transcript	.	.	ENSG00000204366	19066	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT12_HUMAN	ZBTB12	HGNC	.	.	UPI000000DA6C	insertion	ZBTB12,inframe_insertion,p.Glu203_Asp204dup,ENST00000375527,;C2,intron_variant,,ENST00000469372,;C2,intron_variant,,ENST00000497706,;EHMT2,upstream_gene_variant,,ENST00000375537,;EHMT2,upstream_gene_variant,,ENST00000375528,;C2,upstream_gene_variant,,ENST00000452202,;C2,upstream_gene_variant,,ENST00000452323,;EHMT2,upstream_gene_variant,,ENST00000395728,;EHMT2,upstream_gene_variant,,ENST00000375530,;EHMT2,upstream_gene_variant,,ENST00000480912,;EHMT2,upstream_gene_variant,,ENST00000465429,;	787-788	26	45	SUCCESS
PMPCB	9512	.	GRCh37	7	102953331	102953331	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	70	0	ENST00000249269.4:c.*613T>G			ENST00000249269	NM_004279.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5730.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAATATGAGCT	NONE	.	.	.	.	.	ENSP00000249269	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,3_prime_UTR_variant,,ENST00000249269,;DNAJC2,intron_variant,,ENST00000249270,;DNAJC2,intron_variant,,ENST00000379263,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,intron_variant,,ENST00000464253,;DNAJC2,intron_variant,,ENST00000475065,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	2121	70	72	SUCCESS
ZNF783	100289678	.	GRCh37	7	148984701	148984701	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	16	0	ENST00000378052.1:c.*2C>G			ENST00000378052				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56519.1	.	RADIA|MUTECT	.	CTGATCTGCAG	NONE	.	2619	.	.	.	ENSP00000410890	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000434415	Transcript	.	.	ENSG00000204946	27222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF783	HGNC	C9J9J2_HUMAN	.	UPI0000ED938D	SNV	ZNF783,missense_variant,p.Leu24Val,ENST00000418158,;ZNF783,downstream_gene_variant,,ENST00000434415,;SNORD112,upstream_gene_variant,,ENST00000516748,;RP4-800G7.2,non_coding_transcript_exon_variant,,ENST00000463462,;RP4-800G7.2,non_coding_transcript_exon_variant,,ENST00000426347,;ZNF783,non_coding_transcript_exon_variant,,ENST00000489518,;RP4-800G7.2,non_coding_transcript_exon_variant,,ENST00000481817,;RP4-800G7.2,upstream_gene_variant,,ENST00000416232,;ZNF783,3_prime_UTR_variant,,ENST00000476295,;ZNF783,3_prime_UTR_variant,,ENST00000378052,;ZNF783,5_prime_UTR_variant,,ENST00000481519,;RP4-800G7.2,upstream_gene_variant,,ENST00000481968,;	.	16	12	SUCCESS
SQLE	6713	.	GRCh37	8	126034356	126034356	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	14	0	ENST00000265896.5:c.*169A>G			ENST00000265896	NM_003129.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47918.1	.	MUTECT|MUSE	.	TGTAAATACAT	NONE	.	.	.	.	.	ENSP00000265896	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000265896	Transcript	.	.	ENSG00000104549	11279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERG1_HUMAN	SQLE	HGNC	Q9UNR6_HUMAN,H0YBN7_HUMAN,B4DHX0_HUMAN	.	UPI0000073EEE	SNV	SQLE,3_prime_UTR_variant,,ENST00000265896,;SQLE,3_prime_UTR_variant,,ENST00000523430,;SQLE,downstream_gene_variant,,ENST00000518931,;KIAA0196,downstream_gene_variant,,ENST00000517845,;KIAA0196,downstream_gene_variant,,ENST00000318410,;SQLE,downstream_gene_variant,,ENST00000520493,;KIAA0196,downstream_gene_variant,,ENST00000519042,;SQLE,downstream_gene_variant,,ENST00000518604,;	2792	14	11	SUCCESS
PLEKHF2	79666	.	GRCh37	8	96167161	96167161	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	8	96	0	ENST00000315367.3:c.*139A>G			ENST00000315367	NM_024613.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6267.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAATATATTC	NONE	.	.	.	.	.	ENSP00000322373	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315367	Transcript	.	.	ENSG00000175895	20757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PKHF2_HUMAN	PLEKHF2	HGNC	.	.	UPI0000035DB0	SNV	PLEKHF2,3_prime_UTR_variant,,ENST00000315367,;PLEKHF2,downstream_gene_variant,,ENST00000519516,;	1130	96	81	SUCCESS
RMI1	80010	.	GRCh37	9	86618017	86618017	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1485756761	.	TCGA-DD-AAE3-01	TCGA-DD-AAE3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	14	88	0	ENST00000325875.3:c.*238A>G			ENST00000325875	NM_024945.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGCAGTGGC	NONE	.	.	.	.	.	ENSP00000317039	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325875	Transcript	.	.	ENSG00000178966	25764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RMI1_HUMAN	RMI1	HGNC	.	.	UPI000014178F	SNV	RMI1,3_prime_UTR_variant,,ENST00000325875,;RMI1,downstream_gene_variant,,ENST00000445877,;	2448	88	57	SUCCESS
LRRK2	120892	.	GRCh37	12	40761590	40761590	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	253	134	258	0	ENST00000298910.7:c.*23G>T			ENST00000298910	NM_198578.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31774.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTTGGATAG	NONE	.	.	.	.	.	ENSP00000298910	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,3_prime_UTR_variant,,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	7665	258	387	SUCCESS
PPP1R1B	84152	.	GRCh37	17	37792162	37792162	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	18	30	0	ENST00000254079.4:c.*44C>A			ENST00000254079	NM_032192.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11339.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGCTGTTC	NONE	.	.	.	.	.	ENSP00000254079	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000254079	Transcript	.	.	ENSG00000131771	9287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR1B_HUMAN	PPP1R1B	HGNC	Q9NNW1_HUMAN,B3KVQ9_HUMAN	.	UPI000012D808	SNV	PPP1R1B,3_prime_UTR_variant,,ENST00000394265,;PPP1R1B,3_prime_UTR_variant,,ENST00000580825,;PPP1R1B,3_prime_UTR_variant,,ENST00000254079,;PPP1R1B,3_prime_UTR_variant,,ENST00000394267,;PPP1R1B,3_prime_UTR_variant,,ENST00000579000,;STARD3,upstream_gene_variant,,ENST00000577248,;PPP1R1B,downstream_gene_variant,,ENST00000582680,;STARD3,upstream_gene_variant,,ENST00000336308,;STARD3,upstream_gene_variant,,ENST00000579479,;STARD3,upstream_gene_variant,,ENST00000544210,;STARD3,upstream_gene_variant,,ENST00000581894,;STARD3,upstream_gene_variant,,ENST00000394250,;STARD3,upstream_gene_variant,,ENST00000580611,;STARD3,upstream_gene_variant,,ENST00000583718,;STARD3,upstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000585214,;STARD3,upstream_gene_variant,,ENST00000578232,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000580029,;PPP1R1B,non_coding_transcript_exon_variant,,ENST00000492037,;STARD3,upstream_gene_variant,,ENST00000583582,;STARD3,upstream_gene_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000578577,;PPP1R1B,downstream_gene_variant,,ENST00000583446,;	1128	30	40	SUCCESS
ZNF525	170958	.	GRCh37	19	53886240	53886240	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	9	65	0				ENST00000355326				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TACAAGTGTAA	NONE	.	.	.	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,3_prime_UTR_variant,,ENST00000474037,;ZNF525,3_prime_UTR_variant,,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000355326,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	2542	65	96	SUCCESS
CD1D	912	.	GRCh37	1	158154057	158154058	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	58	13	30	0	ENST00000368171.3:c.*118dup			ENST00000368171	NM_001766.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1173.1	.	INDELOCATOR*|PINDEL	.	AGAGATACCTT	NONE	.	.	.	.	.	ENSP00000357153	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368171	Transcript	.	.	ENSG00000158473	1637	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1D_HUMAN	CD1D	HGNC	.	.	UPI00000012B1	insertion	CD1D,3_prime_UTR_variant,,ENST00000368171,;	1624-1625	30	71	SUCCESS
SUCO	51430	.	GRCh37	1	172579454	172579454	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1166213329	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	186	179	0	ENST00000263688.3:c.*55A>G			ENST00000263688	NM_014283.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1303.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGAACAGTCTG	NONE	.	.	.	.	.	ENSP00000263688	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000263688	Transcript	.	.	ENSG00000094975	1240	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SUCO_HUMAN	SUCO	HGNC	.	.	UPI0000070BAC	SNV	SUCO,3_prime_UTR_variant,,ENST00000608151,;SUCO,3_prime_UTR_variant,,ENST00000367723,;SUCO,3_prime_UTR_variant,,ENST00000263688,;SUCO,downstream_gene_variant,,ENST00000610051,;RNU6-693P,downstream_gene_variant,,ENST00000516134,;SUCO,downstream_gene_variant,,ENST00000609685,;	4039	179	336	SUCCESS
SOX11	6664	.	GRCh37	2	5836458	5836458	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs953332762	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	68	0	ENST00000322002.3:c.*2279C>A			ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCCGTGGA	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;AC107057.2,upstream_gene_variant,,ENST00000458264,;	3660	68	94	SUCCESS
SEPT8	0	.	GRCh37	5	132086844	132086844	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	14	0	ENST00000378719.2:c.*864A>T			ENST00000378719	NM_001098811.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43358.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAGTGAAAA	NONE	.	.	.	.	.	ENSP00000367991	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000378719	Transcript	.	.	ENSG00000164402	16511	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPT8_HUMAN	SEPT8	HGNC	H7C604_HUMAN,C9J4G8_HUMAN	.	UPI00001C1E27	SNV	SEPT8,3_prime_UTR_variant,,ENST00000378719,;CCNI2,intron_variant,,ENST00000378731,;SEPT8,downstream_gene_variant,,ENST00000448933,;SEPT8,downstream_gene_variant,,ENST00000378721,;SEPT8,downstream_gene_variant,,ENST00000296873,;CCNI2,intron_variant,,ENST00000468733,;SEPT8,downstream_gene_variant,,ENST00000481030,;CCNI2,non_coding_transcript_exon_variant,,ENST00000492179,;	2554	14	20	SUCCESS
PCDHB12	56124	.	GRCh37	5	140590934	140590934	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	213	123	225	0	ENST00000239450.2:c.*67C>A			ENST00000239450	NM_018932.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCCTGTAA	NONE	.	.	.	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,3_prime_UTR_variant,,ENST00000541609,;PCDHB12,3_prime_UTR_variant,,ENST00000239450,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	2644	225	336	SUCCESS
BCKDHB	594	.	GRCh37	6	81053702	81053702	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000320393.6:c.*181A>T			ENST00000320393	NM_183050.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4994.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATAGTAGTATA	NONE	.	.	.	.	.	ENSP00000318351	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000320393	Transcript	.	.	ENSG00000083123	987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ODBB_HUMAN	BCKDHB	HGNC	Q6LCK9_HUMAN,B7ZB80_HUMAN	.	UPI0000001C97	SNV	BCKDHB,3_prime_UTR_variant,,ENST00000320393,;BCKDHB,3_prime_UTR_variant,,ENST00000545529,;BCKDHB,intron_variant,,ENST00000356489,;BCKDHB,intron_variant,,ENST00000491328,;	1407	17	15	SUCCESS
SEPT6	0	.	GRCh37	X	118750547	118750547	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs762741092	.	TCGA-DD-AAE4-01	TCGA-DD-AAE4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	23	0				ENST00000343984	NM_015129.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14584.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACACTTGTT	NONE	.	1055	.	.	.	ENSP00000341524	.	.	.	.	.	.	.	.	.	.	rs762741092	.	PASS	ENST00000343984	Transcript	.	.	ENSG00000125354	15848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEPT6_HUMAN	SEPT6	HGNC	Q541S4_HUMAN	.	UPI0000001C54	SNV	SEPT6,3_prime_UTR_variant,,ENST00000360156,;SEPT6,downstream_gene_variant,,ENST00000394610,;SEPT6,downstream_gene_variant,,ENST00000489216,;SEPT6,downstream_gene_variant,,ENST00000354228,;SEPT6,downstream_gene_variant,,ENST00000343984,;SEPT6,downstream_gene_variant,,ENST00000354416,;SEPT6,downstream_gene_variant,,ENST00000467310,;SEPT6,downstream_gene_variant,,ENST00000460411,;	.	23	33	SUCCESS
TEAD4	7004	.	GRCh37	12	3149708	3149708	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	49	0	ENST00000359864.2:c.*64G>T			ENST00000359864	NM_003213.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31729.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGGGACCTG	NONE	.	.	.	.	.	ENSP00000352926	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000359864	Transcript	.	.	ENSG00000197905	11717	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	TEAD4	HGNC	Q53GI4_HUMAN,H0YGS2_HUMAN,H0YFK0_HUMAN,H0YFF9_HUMAN,D3DUQ6_HUMAN	.	UPI000013FEB3	SNV	TEAD4,3_prime_UTR_variant,,ENST00000397122,;TEAD4,3_prime_UTR_variant,,ENST00000359864,;TEAD4,3_prime_UTR_variant,,ENST00000358409,;RP11-253E3.3,upstream_gene_variant,,ENST00000513358,;	1559	49	53	SUCCESS
RFXAP	5994	.	GRCh37	13	37402174	37402174	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	23	0	ENST00000255476.2:c.*284G>A			ENST00000255476	NM_000538.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9359.1	.	MUTECT|MUSE	.	GTAATGAAGCA	NONE	.	.	.	.	.	ENSP00000255476	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000255476	Transcript	.	.	ENSG00000133111	9988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFXAP_HUMAN	RFXAP	HGNC	.	.	UPI0000133812	SNV	RFXAP,3_prime_UTR_variant,,ENST00000255476,;RFXAP,intron_variant,,ENST00000472888,;	1237	23	9	SUCCESS
GSG1L	146395	.	GRCh37	16	27802654	27802654	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs200108544	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	14	70	0	ENST00000447459.2:c.*37C>T			ENST00000447459	NM_001109763.1			0	A:0.0002	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS45450.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCGATGGC	NONE	byCluster|by1000G	.	.	A:0	A:0	ENSP00000394954	A:0	7/7	.	.	.	.	.	.	.	.	rs200108544	7/7	PASS	ENST00000447459	Transcript	.	A:0.0002	ENSG00000169181	28283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	GSG1L_HUMAN	GSG1L	HGNC	.	.	UPI0000EE765B	SNV	GSG1L,3_prime_UTR_variant,,ENST00000380897,;GSG1L,3_prime_UTR_variant,,ENST00000395724,;GSG1L,3_prime_UTR_variant,,ENST00000447459,;GSG1L,3_prime_UTR_variant,,ENST00000380898,;GSG1L,downstream_gene_variant,,ENST00000569166,;	1118	70	84	SUCCESS
TBX6	6911	.	GRCh37	16	30097463	30097463	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	10	57	0	ENST00000279386.2:c.*83C>T			ENST00000279386				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10670.1	.	MUTECT|MUSE|VARSCANS	.	GGATGGGGCCG	NONE	.	.	.	.	.	ENSP00000378650	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000395224	Transcript	.	.	ENSG00000149922	11605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBX6_HUMAN	TBX6	HGNC	.	.	UPI000013DBC7	SNV	TBX6,3_prime_UTR_variant,,ENST00000395224,;TBX6,3_prime_UTR_variant,,ENST00000279386,;PPP4C,downstream_gene_variant,,ENST00000562222,;PPP4C,downstream_gene_variant,,ENST00000279387,;PPP4C,downstream_gene_variant,,ENST00000562664,;PPP4C,downstream_gene_variant,,ENST00000561610,;TBX6,downstream_gene_variant,,ENST00000553607,;TBX6,3_prime_UTR_variant,,ENST00000567664,;PPP4C,downstream_gene_variant,,ENST00000563732,;PPP4C,downstream_gene_variant,,ENST00000567828,;PPP4C,downstream_gene_variant,,ENST00000566749,;PPP4C,downstream_gene_variant,,ENST00000564966,;PPP4C,downstream_gene_variant,,ENST00000567040,;PPP4C,downstream_gene_variant,,ENST00000568810,;PPP4C,downstream_gene_variant,,ENST00000563200,;PPP4C,downstream_gene_variant,,ENST00000567642,;PPP4C,downstream_gene_variant,,ENST00000563597,;	1454	57	86	SUCCESS
SYT4	6860	.	GRCh37	18	40850112	40850112	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	16	0	ENST00000255224.3:c.*194A>G			ENST00000255224	NM_020783.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11922.1	.	MUTECT|MUSE	.	AACTCTTCTAA	NONE	.	.	.	.	.	ENSP00000255224	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,3_prime_UTR_variant,,ENST00000255224,;SYT4,3_prime_UTR_variant,,ENST00000590752,;SYT4,downstream_gene_variant,,ENST00000596867,;SYT4,downstream_gene_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000586678,;SYT4,downstream_gene_variant,,ENST00000591820,;SYT4,downstream_gene_variant,,ENST00000585604,;SYT4,downstream_gene_variant,,ENST00000589479,;	1841	16	10	SUCCESS
MED26	9441	.	GRCh37	19	16686742	16686742	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1383705491	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	29	0	ENST00000263390.3:c.*96G>A			ENST00000263390	NM_004831.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12347.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGCGCAGG	NONE	.	.	.	.	.	ENSP00000263390	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000263390	Transcript	.	.	ENSG00000105085	2376	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MED26_HUMAN	MED26	HGNC	M0R2P1_HUMAN,M0QXW8_HUMAN	.	UPI000013D3FC	SNV	MED26,3_prime_UTR_variant,,ENST00000263390,;CTC-429P9.4,downstream_gene_variant,,ENST00000593459,;SLC35E1,upstream_gene_variant,,ENST00000436553,;SLC35E1,upstream_gene_variant,,ENST00000431408,;MED26,downstream_gene_variant,,ENST00000598608,;MED26,downstream_gene_variant,,ENST00000601478,;SLC35E1,upstream_gene_variant,,ENST00000595753,;MED26,downstream_gene_variant,,ENST00000600060,;MED26,downstream_gene_variant,,ENST00000598492,;CTC-429P9.4,downstream_gene_variant,,ENST00000593962,;MED26,non_coding_transcript_exon_variant,,ENST00000597244,;CTD-3222D19.2,intron_variant,,ENST00000409035,;CTC-429P9.4,downstream_gene_variant,,ENST00000601636,;CTC-429P9.4,downstream_gene_variant,,ENST00000593991,;SLC35E1,upstream_gene_variant,,ENST00000409648,;CTC-429P9.4,downstream_gene_variant,,ENST00000600705,;CTC-429P9.4,downstream_gene_variant,,ENST00000595505,;CTC-429P9.4,downstream_gene_variant,,ENST00000594509,;SLC35E1,upstream_gene_variant,,ENST00000488894,;	2162	29	20	SUCCESS
GNAS-AS1	149775	.	GRCh37	20	57429421	57429421	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	47	74	0				ENST00000424094		367		0	.	.	.	.	.	T	A	protein_coding	YES	CCDS46622.1	1101	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGCCGCGGA	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000360141	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Pro304Leu,ENST00000306120,;GNAS,synonymous_variant,p.%3D,ENST00000371102,;GNAS,synonymous_variant,p.%3D,ENST00000371099,;GNAS,synonymous_variant,p.%3D,ENST00000371100,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000371075,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000467227,;	1653	74	145	SUCCESS
FTCD	10841	.	GRCh37	21	47575482	47575482	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	24	0				ENST00000291670	NM_006657.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13731.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGACAGG	NONE	.	1	.	.	.	ENSP00000291670	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000291670	Transcript	.	.	ENSG00000160282	3974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FTCD_HUMAN	FTCD	HGNC	Q49AR5_HUMAN,D3DSM8_HUMAN	.	UPI000012AC75	SNV	FTCD,upstream_gene_variant,,ENST00000397746,;FTCD,upstream_gene_variant,,ENST00000359679,;FTCD,upstream_gene_variant,,ENST00000291670,;FTCD,upstream_gene_variant,,ENST00000397743,;FTCD,upstream_gene_variant,,ENST00000355384,;FTCD,upstream_gene_variant,,ENST00000397748,;FTCD-AS1,downstream_gene_variant,,ENST00000446649,;FTCD,upstream_gene_variant,,ENST00000498355,;	.	24	17	SUCCESS
TUSC2	11334	.	GRCh37	3	50363479	50363479	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	19	101	0	ENST00000232496.4:c.*73C>T			ENST00000232496	NM_007275.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2819.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAATGGAAGCC	NONE	.	.	.	.	.	ENSP00000232496	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000232496	Transcript	.	.	ENSG00000114383	17034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TUSC2_HUMAN	TUSC2	HGNC	.	.	UPI000012AD8D	SNV	TUSC2,3_prime_UTR_variant,,ENST00000232496,;HYAL2,upstream_gene_variant,,ENST00000442581,;RASSF1,downstream_gene_variant,,ENST00000357043,;RASSF1,downstream_gene_variant,,ENST00000395126,;RASSF1,downstream_gene_variant,,ENST00000327761,;HYAL2,upstream_gene_variant,,ENST00000447092,;HYAL2,upstream_gene_variant,,ENST00000458018,;RASSF1,downstream_gene_variant,,ENST00000359365,;HYAL2,upstream_gene_variant,,ENST00000357750,;HYAL2,upstream_gene_variant,,ENST00000395139,;HYAL2,upstream_gene_variant,,ENST00000428028,;HYAL2,upstream_gene_variant,,ENST00000415028,;TUSC2,intron_variant,,ENST00000462137,;TUSC2,downstream_gene_variant,,ENST00000463304,;TUSC2,3_prime_UTR_variant,,ENST00000421918,;TUSC2,3_prime_UTR_variant,,ENST00000454201,;TUSC2,downstream_gene_variant,,ENST00000417867,;RASSF1,downstream_gene_variant,,ENST00000482447,;RASSF1,downstream_gene_variant,,ENST00000395117,;HYAL2,upstream_gene_variant,,ENST00000481597,;	550	101	101	SUCCESS
TUBB2A	7280	.	GRCh37	6	3153968	3153968	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE6-01	TCGA-DD-AAE6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	32	0	ENST00000333628.3:c.*129G>A			ENST00000333628	NM_001069.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4484.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGTTCCACAT	NONE	.	.	.	.	.	ENSP00000369703	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000333628	Transcript	.	.	ENSG00000137267	12412	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBB2A_HUMAN	TUBB2A	HGNC	.	.	UPI000000DC98	SNV	TUBB2A,3_prime_UTR_variant,,ENST00000333628,;BPHL,downstream_gene_variant,,ENST00000380368,;BPHL,downstream_gene_variant,,ENST00000380379,;BPHL,downstream_gene_variant,,ENST00000423798,;BPHL,downstream_gene_variant,,ENST00000380375,;BPHL,downstream_gene_variant,,ENST00000434640,;RP1-40E16.11,upstream_gene_variant,,ENST00000447644,;TUBB2A,downstream_gene_variant,,ENST00000489942,;BPHL,downstream_gene_variant,,ENST00000464040,;BPHL,downstream_gene_variant,,ENST00000490918,;BPHL,downstream_gene_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000424847,;BPHL,downstream_gene_variant,,ENST00000430655,;BPHL,downstream_gene_variant,,ENST00000433912,;	1530	32	20	SUCCESS
TMEM86A	144110	.	GRCh37	11	18723589	18723589	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	7	16	0	ENST00000280734.2:c.*33T>G			ENST00000280734	NM_153347.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7844.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGGGGC	NONE	.	.	.	.	.	ENSP00000280734	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000280734	Transcript	.	.	ENSG00000151117	26890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM86A_HUMAN	TMEM86A	HGNC	.	.	UPI0000073C65	SNV	TMEM86A,3_prime_UTR_variant,,ENST00000280734,;IGSF22,downstream_gene_variant,,ENST00000513874,;RP11-1081L13.4,upstream_gene_variant,,ENST00000527285,;TMEM86A,downstream_gene_variant,,ENST00000524888,;TMEM86A,downstream_gene_variant,,ENST00000529240,;TMEM86A,downstream_gene_variant,,ENST00000533987,;TMEM86A,downstream_gene_variant,,ENST00000527002,;IGSF22,downstream_gene_variant,,ENST00000510673,;IGSF22,downstream_gene_variant,,ENST00000319338,;IGSF22,downstream_gene_variant,,ENST00000504981,;	852	16	18	SUCCESS
KBTBD4	55709	.	GRCh37	11	47594391	47594391	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	29	0	ENST00000395288.2:c.*91T>G			ENST00000395288	NM_016506.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44594.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAAAAAAC	NONE	.	.	.	.	.	ENSP00000415106	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000430070	Transcript	.	.	ENSG00000123444	23761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTB4_HUMAN	KBTBD4	HGNC	E9PJY1_HUMAN,E9PJ66_HUMAN	.	UPI0000D4DDB6	SNV	KBTBD4,3_prime_UTR_variant,,ENST00000395288,;KBTBD4,3_prime_UTR_variant,,ENST00000533290,;KBTBD4,3_prime_UTR_variant,,ENST00000430070,;KBTBD4,3_prime_UTR_variant,,ENST00000526005,;PTPMT1,downstream_gene_variant,,ENST00000426530,;KBTBD4,downstream_gene_variant,,ENST00000529499,;PTPMT1,downstream_gene_variant,,ENST00000534775,;KBTBD4,downstream_gene_variant,,ENST00000534239,;KBTBD4,downstream_gene_variant,,ENST00000529946,;KBTBD4,downstream_gene_variant,,ENST00000531067,;KBTBD4,downstream_gene_variant,,ENST00000525720,;KBTBD4,upstream_gene_variant,,ENST00000450908,;PTPMT1,downstream_gene_variant,,ENST00000326674,;PTPMT1,downstream_gene_variant,,ENST00000326656,;RNU5E-10P,downstream_gene_variant,,ENST00000363506,;PTPMT1,non_coding_transcript_exon_variant,,ENST00000527079,;NDUFS3,intron_variant,,ENST00000533507,;KBTBD4,downstream_gene_variant,,ENST00000530668,;	1760	29	21	SUCCESS
C11orf31	0	.	GRCh37	11	57509692	57509692	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs760801933	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	8	104	0	ENST00000388857.4:c.*3A>C			ENST00000388857				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44602.1	.	MUTECT|MUSE	.	TAGGGAGATTT	NONE	byFrequency	.	.	.	.	ENSP00000373509	.	3/3	.	.	.	.	.	.	.	.	rs760801933	3/3	PASS	ENST00000388857	Transcript	.	.	ENSG00000211450	18251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SELH_HUMAN	C11orf31	HGNC	.	.	UPI0000163E14	SNV	C11orf31,3_prime_UTR_variant,,ENST00000528798,;C11orf31,3_prime_UTR_variant,,ENST00000534355,;C11orf31,3_prime_UTR_variant,,ENST00000388857,;BTBD18,downstream_gene_variant,,ENST00000436147,;TMX2,downstream_gene_variant,,ENST00000378312,;BTBD18,downstream_gene_variant,,ENST00000527995,;BTBD18,downstream_gene_variant,,ENST00000422652,;TMX2,downstream_gene_variant,,ENST00000278422,;RP11-691N7.6,3_prime_UTR_variant,,ENST00000531074,;C11orf31,non_coding_transcript_exon_variant,,ENST00000533321,;C11orf31,non_coding_transcript_exon_variant,,ENST00000534386,;TMX2-CTNND1,intron_variant,,ENST00000528395,;TMX2,downstream_gene_variant,,ENST00000525035,;TMX2,downstream_gene_variant,,ENST00000528110,;TMX2,downstream_gene_variant,,ENST00000530114,;TMX2,downstream_gene_variant,,ENST00000529403,;TMX2,downstream_gene_variant,,ENST00000528042,;TMX2,downstream_gene_variant,,ENST00000524972,;TMX2,downstream_gene_variant,,ENST00000533602,;	396	105	108	SUCCESS
CCDC87	55231	.	GRCh37	11	66357772	66357772	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	8	0	ENST00000333861.3:c.*165A>G			ENST00000333861	NM_018219.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8145.1	.	MUTECT|MUSE	.	ATAGTTGGAAG	NONE	.	.	.	.	.	ENSP00000328487	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333861	Transcript	.	.	ENSG00000182791	25579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD87_HUMAN	CCDC87	HGNC	.	.	UPI000013EFC2	SNV	CCDC87,3_prime_UTR_variant,,ENST00000333861,;CCS,upstream_gene_variant,,ENST00000310190,;CCS,upstream_gene_variant,,ENST00000533244,;CCS,upstream_gene_variant,,ENST00000530961,;CCS,upstream_gene_variant,,ENST00000526058,;CCS,upstream_gene_variant,,ENST00000526066,;CCS,upstream_gene_variant,,ENST00000530384,;CCS,upstream_gene_variant,,ENST00000531990,;	2783	8	20	SUCCESS
TM7SF3	51768	.	GRCh37	12	27126820	27126820	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	17	0	ENST00000343028.4:c.*78T>C			ENST00000343028	NM_016551.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8710.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTAGACTT	NONE	.	.	.	.	.	ENSP00000342322	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000343028	Transcript	.	.	ENSG00000064115	23049	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM7S3_HUMAN	TM7SF3	HGNC	F5H587_HUMAN,F5H3K5_HUMAN,F5GXE1_HUMAN,F5GWC3_HUMAN	.	UPI0000136849	SNV	TM7SF3,3_prime_UTR_variant,,ENST00000343028,;TM7SF3,downstream_gene_variant,,ENST00000545303,;TM7SF3,downstream_gene_variant,,ENST00000537406,;TM7SF3,downstream_gene_variant,,ENST00000545344,;RP11-421F16.3,intron_variant,,ENST00000500632,;TM7SF3,downstream_gene_variant,,ENST00000541081,;TM7SF3,downstream_gene_variant,,ENST00000544179,;TM7SF3,downstream_gene_variant,,ENST00000535260,;TM7SF3,downstream_gene_variant,,ENST00000543882,;	2017	17	30	SUCCESS
SLC48A1	55652	.	GRCh37	12	48174170	48174170	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	18	90	0	ENST00000442218.2:c.*106G>A			ENST00000442218	NM_017842.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8755.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGTGGCAGA	NONE	.	.	.	.	.	ENSP00000415998	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000442218	Transcript	.	.	ENSG00000211584	26035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRG1_HUMAN	SLC48A1	HGNC	F8VQX9_HUMAN	.	UPI00001FC0AF	SNV	SLC48A1,3_prime_UTR_variant,,ENST00000442218,;SLC48A1,intron_variant,,ENST00000442892,;HDAC7,downstream_gene_variant,,ENST00000552960,;HDAC7,downstream_gene_variant,,ENST00000380610,;HDAC7,downstream_gene_variant,,ENST00000354334,;SLC48A1,downstream_gene_variant,,ENST00000549243,;SLC48A1,downstream_gene_variant,,ENST00000548498,;HDAC7,downstream_gene_variant,,ENST00000080059,;HDAC7,downstream_gene_variant,,ENST00000548080,;HDAC7,downstream_gene_variant,,ENST00000427332,;SLC48A1,downstream_gene_variant,,ENST00000547002,;AC004466.1,upstream_gene_variant,,ENST00000599515,;HDAC7,downstream_gene_variant,,ENST00000549883,;SLC48A1,downstream_gene_variant,,ENST00000461620,;SLC48A1,downstream_gene_variant,,ENST00000476104,;SLC48A1,3_prime_UTR_variant,,ENST00000551301,;HDAC7,downstream_gene_variant,,ENST00000477203,;HDAC7,downstream_gene_variant,,ENST00000548938,;HDAC7,downstream_gene_variant,,ENST00000459625,;HDAC7,downstream_gene_variant,,ENST00000470668,;HDAC7,downstream_gene_variant,,ENST00000547259,;	644	90	92	SUCCESS
SLC6A15	55117	.	GRCh37	12	85255282	85255282	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	17	0	ENST00000266682.5:c.*129C>G			ENST00000266682	NM_182767.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9026.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAGGATTA	NONE	.	.	.	.	.	ENSP00000266682	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000266682	Transcript	.	.	ENSG00000072041	13621	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S6A15_HUMAN	SLC6A15	HGNC	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN	.	UPI0000038BF2	SNV	SLC6A15,3_prime_UTR_variant,,ENST00000309283,;SLC6A15,3_prime_UTR_variant,,ENST00000266682,;SLC6A15,downstream_gene_variant,,ENST00000552192,;SLC6A15,downstream_gene_variant,,ENST00000548267,;	2864	17	25	SUCCESS
MGAT2	4247	.	GRCh37	14	50090170	50090170	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	37	98	0	ENST00000305386.2:c.*840T>G			ENST00000305386	NM_002408.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9690.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTTTGAAA	NONE	.	.	.	.	.	ENSP00000307423	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305386	Transcript	.	.	ENSG00000168282	7045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAT2_HUMAN	MGAT2	HGNC	B4DDK9_HUMAN	.	UPI000012B8CA	SNV	MGAT2,3_prime_UTR_variant,,ENST00000305386,;DNAAF2,downstream_gene_variant,,ENST00000298292,;DNAAF2,downstream_gene_variant,,ENST00000406043,;RPL36AL,upstream_gene_variant,,ENST00000298289,;RP11-649E7.5,non_coding_transcript_exon_variant,,ENST00000555043,;	2682	98	139	SUCCESS
ABCC6	368	.	GRCh37	16	16243924	16243924	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	25	59	0	ENST00000205557.7:c.*66T>A			ENST00000205557	NM_001171.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10568.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCACTTCC	NONE	.	.	.	.	.	ENSP00000205557	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000205557	Transcript	.	.	ENSG00000091262	57	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP6_HUMAN	ABCC6	HGNC	.	.	UPI00001AE5CA	SNV	ABCC6,3_prime_UTR_variant,,ENST00000205557,;ABCC6,non_coding_transcript_exon_variant,,ENST00000576204,;ABCC6,downstream_gene_variant,,ENST00000456970,;	4608	59	82	SUCCESS
CACNG3	10368	.	GRCh37	16	24373234	24373234	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	20	0	ENST00000005284.3:c.*50T>C			ENST00000005284	NM_006539.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10620.1	.	MUTECT|MUSE	.	AAGTGTACAGA	NONE	.	.	.	.	.	ENSP00000005284	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000005284	Transcript	.	.	ENSG00000006116	1407	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCG3_HUMAN	CACNG3	HGNC	.	.	UPI000000D979	SNV	CACNG3,3_prime_UTR_variant,,ENST00000005284,;	2200	20	25	SUCCESS
HIC1	3090	.	GRCh37	17	1962892	1962892	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1597305766	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	50	132	0	ENST00000322941.3:c.*763T>C			ENST00000322941	NM_001098202.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42229.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCGTTTGTATA	NONE	.	.	.	.	.	ENSP00000314080	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000322941	Transcript	.	.	ENSG00000177374	4909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIC1_HUMAN	HIC1	HGNC	O95459_HUMAN,K7ENQ1_HUMAN,I3L388_HUMAN	.	UPI0000140F7F	SNV	HIC1,3_prime_UTR_variant,,ENST00000399849,;HIC1,3_prime_UTR_variant,,ENST00000322941,;SMG6,downstream_gene_variant,,ENST00000536871,;HIC1,downstream_gene_variant,,ENST00000576444,;HIC1,downstream_gene_variant,,ENST00000571875,;HIC1,downstream_gene_variant,,ENST00000574370,;SMG6,downstream_gene_variant,,ENST00000544865,;SMG6,downstream_gene_variant,,ENST00000263073,;HIC1,downstream_gene_variant,,ENST00000571990,;SMG6,downstream_gene_variant,,ENST00000354901,;SMG6,downstream_gene_variant,,ENST00000573827,;SMG6,downstream_gene_variant,,ENST00000576218,;SMG6,downstream_gene_variant,,ENST00000570756,;SMG6,downstream_gene_variant,,ENST00000573166,;SMG6,downstream_gene_variant,,ENST00000573153,;SMG6,downstream_gene_variant,,ENST00000574501,;	2965	133	170	SUCCESS
KCNJ2	3759	.	GRCh37	17	68172901	68172901	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	5	63	0	ENST00000243457.3:c.*437C>G			ENST00000243457	NM_000891.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11688.1	.	MUTECT|MUSE|VARSCANS	.	TTTTCCTTTTG	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	2104	63	60	SUCCESS
GTPBP3	84705	.	GRCh37	19	17452618	17452618	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	11	32	0	ENST00000324894.8:c.*106T>G			ENST00000324894	NM_133644.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32950.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACTTGATT	NONE	.	.	.	.	.	ENSP00000351644	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358792	Transcript	1	.	ENSG00000130299	14880	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTPB3_HUMAN	GTPBP3	HGNC	.	.	UPI000059D6A7	SNV	GTPBP3,3_prime_UTR_variant,,ENST00000361619,;GTPBP3,3_prime_UTR_variant,,ENST00000324894,;GTPBP3,3_prime_UTR_variant,,ENST00000358792,;GTPBP3,3_prime_UTR_variant,,ENST00000600625,;GTPBP3,intron_variant,,ENST00000598038,;GTPBP3,downstream_gene_variant,,ENST00000596218,;GTPBP3,downstream_gene_variant,,ENST00000595951,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000600995,;GTPBP3,downstream_gene_variant,,ENST00000596941,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,downstream_gene_variant,,ENST00000593297,;GTPBP3,downstream_gene_variant,,ENST00000596166,;GTPBP3,downstream_gene_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000602165,;GTPBP3,downstream_gene_variant,,ENST00000600610,;GTPBP3,downstream_gene_variant,,ENST00000594703,;GTPBP3,downstream_gene_variant,,ENST00000601983,;GTPBP3,downstream_gene_variant,,ENST00000599329,;GTPBP3,downstream_gene_variant,,ENST00000596001,;GTPBP3,downstream_gene_variant,,ENST00000595194,;GTPBP3,downstream_gene_variant,,ENST00000596125,;GTPBP3,downstream_gene_variant,,ENST00000598493,;GTPBP3,downstream_gene_variant,,ENST00000601261,;GTPBP3,downstream_gene_variant,,ENST00000602056,;GTPBP3,downstream_gene_variant,,ENST00000601213,;GTPBP3,downstream_gene_variant,,ENST00000599429,;GTPBP3,downstream_gene_variant,,ENST00000594018,;	1738	32	45	SUCCESS
PLEKHF1	79156	.	GRCh37	19	30166240	30166240	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	158	42	137	0	ENST00000436066.3:c.*654T>A			ENST00000436066	NM_024310.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12417.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGTCTCAT	NONE	.	.	.	.	.	ENSP00000389787	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000436066	Transcript	.	.	ENSG00000166289	20764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHF1_HUMAN	PLEKHF1	HGNC	K7ELB8_HUMAN,K7EIX0_HUMAN,B4DWN9_HUMAN	.	UPI000006E165	SNV	PLEKHF1,3_prime_UTR_variant,,ENST00000436066,;PLEKHF1,downstream_gene_variant,,ENST00000586888,;PLEKHF1,downstream_gene_variant,,ENST00000588833,;PLEKHF1,downstream_gene_variant,,ENST00000592810,;	1960	137	201	SUCCESS
THAP8	199745	.	GRCh37	19	36526276	36526276	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	9	20	0	ENST00000292894.1:c.*66G>A			ENST00000292894	NM_152658.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33000.1	.	MUTECT|MUSE	.	CAAGCCCACGT	NONE	.	.	.	.	.	ENSP00000292894	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000292894	Transcript	.	.	ENSG00000161277	23191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THAP8_HUMAN	THAP8	HGNC	B4DMU1_HUMAN,B4DKM9_HUMAN	.	UPI000006ED6C	SNV	THAP8,3_prime_UTR_variant,,ENST00000538849,;THAP8,3_prime_UTR_variant,,ENST00000292894,;CLIP3,upstream_gene_variant,,ENST00000360535,;CLIP3,upstream_gene_variant,,ENST00000592017,;CLIP3,upstream_gene_variant,,ENST00000593074,;CLIP3,upstream_gene_variant,,ENST00000590559,;AC002116.7,intron_variant,,ENST00000586962,;THAP8,downstream_gene_variant,,ENST00000524106,;THAP8,3_prime_UTR_variant,,ENST00000522483,;CLIP3,upstream_gene_variant,,ENST00000586457,;THAP8,downstream_gene_variant,,ENST00000607730,;	1436	20	45	SUCCESS
FKRP	79147	.	GRCh37	19	47260736	47260736	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	7	34	0	ENST00000318584.5:c.*541T>C			ENST00000318584	NM_024301.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12691.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCACTAGAGG	NONE	.	.	.	.	.	ENSP00000326570	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000318584	Transcript	1	.	ENSG00000181027	17997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FKRP_HUMAN	FKRP	HGNC	M0R342_HUMAN,M0R2U3_HUMAN,M0R274_HUMAN,M0R1M1_HUMAN,M0R112_HUMAN,M0R0G0_HUMAN,M0R092_HUMAN,M0R016_HUMAN,M0R005_HUMAN,M0QZ68_HUMAN,M0QZ46_HUMAN,M0QYV8_HUMAN,M0QYV4_HUMAN,M0QYR2_HUMAN,M0QXT8_HUMAN,M0QX03_HUMAN	.	UPI00000732D0	SNV	FKRP,3_prime_UTR_variant,,ENST00000318584,;FKRP,3_prime_UTR_variant,,ENST00000391909,;FKRP,downstream_gene_variant,,ENST00000602250,;FKRP,downstream_gene_variant,,ENST00000593902,;FKRP,downstream_gene_variant,,ENST00000600834,;FKRP,downstream_gene_variant,,ENST00000596460,;FKRP,downstream_gene_variant,,ENST00000600227,;FKRP,downstream_gene_variant,,ENST00000597313,;FKRP,downstream_gene_variant,,ENST00000593800,;FKRP,downstream_gene_variant,,ENST00000595570,;FKRP,downstream_gene_variant,,ENST00000593875,;FKRP,downstream_gene_variant,,ENST00000600629,;FKRP,downstream_gene_variant,,ENST00000600005,;FKRP,downstream_gene_variant,,ENST00000594467,;FKRP,downstream_gene_variant,,ENST00000601299,;FKRP,downstream_gene_variant,,ENST00000595868,;FKRP,downstream_gene_variant,,ENST00000593877,;FKRP,downstream_gene_variant,,ENST00000598271,;FKRP,downstream_gene_variant,,ENST00000602181,;FKRP,intron_variant,,ENST00000597339,;FKRP,intron_variant,,ENST00000600646,;FKRP,downstream_gene_variant,,ENST00000596974,;FKRP,downstream_gene_variant,,ENST00000600977,;FKRP,downstream_gene_variant,,ENST00000600872,;	2326	34	48	SUCCESS
MYADM	91663	.	GRCh37	19	54378657	54378657	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs527342689	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	36	72	0	ENST00000336967.3:c.*905C>T			ENST00000336967	NM_001020820.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS12866.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCCCGCCTG	NONE	by1000G	.	.	T:0.001	.	ENSP00000375649	T:0	3/3	.	.	.	.	.	.	.	.	rs527342689	3/3	PASS	ENST00000391769	Transcript	.	T:0.0002	ENSG00000179820	7544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MYADM_HUMAN	MYADM	HGNC	C9JZL8_HUMAN,C9JJV6_HUMAN,C9JC07_HUMAN,C9J5M0_HUMAN	.	UPI0000001BEF	SNV	MYADM,3_prime_UTR_variant,,ENST00000391771,;MYADM,3_prime_UTR_variant,,ENST00000391769,;MYADM,3_prime_UTR_variant,,ENST00000336967,;MYADM,3_prime_UTR_variant,,ENST00000391770,;PRKCG,upstream_gene_variant,,ENST00000479081,;MYADM,downstream_gene_variant,,ENST00000414489,;MYADM,downstream_gene_variant,,ENST00000391768,;MYADM,downstream_gene_variant,,ENST00000439000,;MYADM,downstream_gene_variant,,ENST00000448420,;MYADM,downstream_gene_variant,,ENST00000421337,;AC008440.5,intron_variant,,ENST00000413496,;	2154	72	127	SUCCESS
CLEC4G	339390	.	GRCh37	19	7794134	7794134	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs1053208546	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	10	0	ENST00000328853.5:c.*118C>G			ENST00000328853	NM_001244856.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12185.1	.	MUTECT|MUSE	.	ACTCAGCAGCG	NONE	.	.	.	.	.	ENSP00000327599	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000328853	Transcript	.	.	ENSG00000182566	24591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLC4G_HUMAN	CLEC4G	HGNC	Q08G24_HUMAN	.	UPI000004C65D	SNV	CLEC4G,3_prime_UTR_variant,,ENST00000328853,;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;	1069	10	11	SUCCESS
SLC26A9	115019	.	GRCh37	1	205884398	205884398	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs763810662	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	27	56	0	ENST00000367135.3:c.*87G>T			ENST00000367135	NM_052934.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30989.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCCGACAC	NONE	byFrequency	.	.	.	.	ENSP00000356102	.	.	.	.	.	.	.	.	.	.	rs763810662	.	PASS	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	MODIFIER	21/21	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,3_prime_UTR_variant,,ENST00000367135,;SLC26A9,intron_variant,,ENST00000340781,;SLC26A9,intron_variant,,ENST00000367134,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;	.	56	79	SUCCESS
PPDPF	79144	.	GRCh37	20	62153515	62153515	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	39	0	ENST00000370179.3:c.*283G>T			ENST00000370179	NM_024299.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13523.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AGCCAGTAGCC	NONE	.	.	.	.	.	ENSP00000359198	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370179	Transcript	.	.	ENSG00000125534	16142	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPDPF_HUMAN	PPDPF	HGNC	.	.	UPI000003BBD7	SNV	PPDPF,3_prime_UTR_variant,,ENST00000370179,;PPDPF,downstream_gene_variant,,ENST00000370177,;PPDPF,downstream_gene_variant,,ENST00000464438,;PPDPF,downstream_gene_variant,,ENST00000473620,;	824	39	45	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125672720	125672720	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1039804553	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	6	83	0	ENST00000431078.1:c.*855T>C			ENST00000431078	NM_130773.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46401.1	.	MUTECT|MUSE	.	ATATATACACA	NONE	.	.	.	.	.	ENSP00000399013	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,3_prime_UTR_variant,,ENST00000431078,;	5140	83	150	SUCCESS
NEUROD1	4760	.	GRCh37	2	182542454	182542454	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	19	0	ENST00000295108.3:c.*63T>A			ENST00000295108	NM_002500.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2283.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAAACACG	NONE	.	.	.	.	.	ENSP00000295108	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295108	Transcript	.	.	ENSG00000162992	7762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDF1_HUMAN	NEUROD1	HGNC	.	.	UPI000013E207	SNV	NEUROD1,3_prime_UTR_variant,,ENST00000295108,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;CERKL,intron_variant,,ENST00000479558,;	1592	19	39	SUCCESS
MFSD6	54842	.	GRCh37	2	191365071	191365071	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	22	0	ENST00000281416.7:c.*127A>G			ENST00000281416				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2306.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCTAAACTC	NONE	.	.	.	.	.	ENSP00000376141	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000392328	Transcript	.	.	ENSG00000151690	24711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFSD6_HUMAN	MFSD6	HGNC	C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN	.	UPI000022BD91	SNV	MFSD6,3_prime_UTR_variant,,ENST00000434582,;MFSD6,3_prime_UTR_variant,,ENST00000392328,;MFSD6,3_prime_UTR_variant,,ENST00000535751,;MFSD6,3_prime_UTR_variant,,ENST00000281416,;TMEM194B,downstream_gene_variant,,ENST00000409150,;MFSD6,downstream_gene_variant,,ENST00000444317,;MFSD6,intron_variant,,ENST00000412482,;MFSD6,downstream_gene_variant,,ENST00000486123,;	2827	22	22	SUCCESS
GPR35	2859	.	GRCh37	2	241570342	241570342	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs763397646	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	21	69	0	ENST00000319838.5:c.*43G>A			ENST00000319838	NM_001195381.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56174.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTCCGGGAGG	NONE	byFrequency	.	.	.	.	ENSP00000415890	.	6/6	.	.	.	.	.	.	.	.	rs763397646	6/6	PASS	ENST00000438013	Transcript	.	.	ENSG00000178623	4492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR35_HUMAN	GPR35	HGNC	.	.	UPI0000E6291C	SNV	GPR35,3_prime_UTR_variant,,ENST00000430267,;GPR35,3_prime_UTR_variant,,ENST00000438013,;GPR35,3_prime_UTR_variant,,ENST00000319838,;GPR35,3_prime_UTR_variant,,ENST00000403859,;GPR35,downstream_gene_variant,,ENST00000407714,;	1787	69	82	SUCCESS
SOX11	6664	.	GRCh37	2	5836660	5836660	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	15	31	0	ENST00000322002.3:c.*2481T>A			ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGTGAGGG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	3862	31	48	SUCCESS
INPP4A	3631	.	GRCh37	2	99204218	99204218	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	18	0	ENST00000074304.5:c.*147G>T			ENST00000074304	NM_001134224.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGAGCATGT	NONE	.	.	.	.	.	ENSP00000074304	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000074304	Transcript	.	.	ENSG00000040933	6074	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INP4A_HUMAN	INPP4A	HGNC	.	.	UPI000006CD60	SNV	INPP4A,3_prime_UTR_variant,,ENST00000074304,;INPP4A,3_prime_UTR_variant,,ENST00000409463,;INPP4A,3_prime_UTR_variant,,ENST00000409016,;INPP4A,3_prime_UTR_variant,,ENST00000545415,;INPP4A,downstream_gene_variant,,ENST00000523221,;INPP4A,downstream_gene_variant,,ENST00000409851,;INPP4A,downstream_gene_variant,,ENST00000498026,;	3474	18	16	SUCCESS
GPR62	118442	.	GRCh37	3	51991263	51991263	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	90	29	91	0	ENST00000322241.4:c.*488G>A			ENST00000322241	NM_080865.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2838.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATGCCCAG	NONE	.	.	.	.	.	ENSP00000319250	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322241	Transcript	.	.	ENSG00000180929	13301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR62_HUMAN	GPR62	HGNC	.	.	UPI0000457117	SNV	GPR62,3_prime_UTR_variant,,ENST00000322241,;PCBP4,downstream_gene_variant,,ENST00000484633,;PCBP4,downstream_gene_variant,,ENST00000322099,;PCBP4,downstream_gene_variant,,ENST00000466412,;PCBP4,downstream_gene_variant,,ENST00000483411,;PCBP4,downstream_gene_variant,,ENST00000468324,;PCBP4,downstream_gene_variant,,ENST00000395014,;PCBP4,downstream_gene_variant,,ENST00000490063,;PCBP4,downstream_gene_variant,,ENST00000461554,;PCBP4,downstream_gene_variant,,ENST00000461544,;PCBP4,downstream_gene_variant,,ENST00000497653,;RP11-155D18.14,downstream_gene_variant,,ENST00000489595,;PCBP4,downstream_gene_variant,,ENST00000471622,;PCBP4,downstream_gene_variant,,ENST00000395013,;PCBP4,downstream_gene_variant,,ENST00000428823,;PCBP4,downstream_gene_variant,,ENST00000355852,;RP11-155D18.12,downstream_gene_variant,,ENST00000488257,;PCBP4,downstream_gene_variant,,ENST00000498822,;PCBP4,downstream_gene_variant,,ENST00000471308,;PCBP4,downstream_gene_variant,,ENST00000471358,;PCBP4,downstream_gene_variant,,ENST00000492809,;PCBP4,downstream_gene_variant,,ENST00000497390,;	1934	91	120	SUCCESS
NELFA	7469	.	GRCh37	4	2010721	2010721	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	50	0				ENST00000411638	NM_005663.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3358.2	.	MUTECT|MUSE	.	GCATCTTATGA	NONE	.	.	.	.	.	ENSP00000372335	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000382882	Transcript	1	.	ENSG00000185049	12768	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NELFA_HUMAN	NELFA	HGNC	C9JEM7_HUMAN,B3KSP0_HUMAN	.	UPI00004A2565	SNV	NELFA,5_prime_UTR_variant,,ENST00000382882,;NELFA,5_prime_UTR_variant,,ENST00000431323,;NELFA,intron_variant,,ENST00000455762,;NELFA,upstream_gene_variant,,ENST00000411638,;NELFA,upstream_gene_variant,,ENST00000542778,;NELFA,upstream_gene_variant,,ENST00000411649,;NELFA,5_prime_UTR_variant,,ENST00000333877,;NELFA,upstream_gene_variant,,ENST00000458616,;NELFA,upstream_gene_variant,,ENST00000443203,;NELFA,upstream_gene_variant,,ENST00000421397,;	1117	50	55	SUCCESS
GABRG1	2565	.	GRCh37	4	46042913	46042913	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	4	24	0	ENST00000295452.4:c.*92C>T			ENST00000295452	NM_173536.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3470.1	.	MUTECT|MUSE	.	TCTCTGCATTT	NONE	.	.	.	.	.	ENSP00000295452	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000295452	Transcript	.	.	ENSG00000163285	4086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRG1_HUMAN	GABRG1	HGNC	.	.	UPI0000047AE2	SNV	GABRG1,3_prime_UTR_variant,,ENST00000295452,;	1658	24	47	SUCCESS
DRD5	1816	.	GRCh37	4	9785495	9785495	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	49	101	0	ENST00000304374.2:c.*408C>T			ENST00000304374	NM_000798.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3405.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGAGCACAGC	NONE	.	.	.	.	.	ENSP00000306129	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000304374	Transcript	1	.	ENSG00000169676	3026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DRD5_HUMAN	DRD5	HGNC	.	.	UPI000004E905	SNV	DRD5,3_prime_UTR_variant,,ENST00000304374,;SLC2A9,intron_variant,,ENST00000508585,;SLC2A9,intron_variant,,ENST00000503803,;	2238	101	153	SUCCESS
ADAMTS19	171019	.	GRCh37	5	129072975	129072975	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	29	0	ENST00000274487.4:c.*64G>T			ENST00000274487	NM_133638.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4146.1	.	MUTECT|MUSE	.	CACTAGCATGT	NONE	.	.	.	.	.	ENSP00000274487	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000274487	Transcript	.	.	ENSG00000145808	17111	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATS19_HUMAN	ADAMTS19	HGNC	.	.	UPI000013DA0D	SNV	ADAMTS19,3_prime_UTR_variant,,ENST00000274487,;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,downstream_gene_variant,,ENST00000509467,;	3833	29	48	SUCCESS
PCDHB10	56126	.	GRCh37	5	140575142	140575142	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	32	68	0	ENST00000239446.4:c.*614A>G			ENST00000239446	NM_018930.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4252.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGACTATG	NONE	.	.	.	.	.	ENSP00000239446	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239446	Transcript	.	.	ENSG00000120324	8681	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBA_HUMAN	PCDHB10	HGNC	O95883_HUMAN	.	UPI0000048F2E	SNV	PCDHB10,3_prime_UTR_variant,,ENST00000239446,;PCDHB11,upstream_gene_variant,,ENST00000536699,;PCDHB11,upstream_gene_variant,,ENST00000354757,;PCDHB9,downstream_gene_variant,,ENST00000316105,;	3201	68	126	SUCCESS
CAPSL	133690	.	GRCh37	5	35904536	35904536	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	8	30	0	ENST00000397366.1:c.*111T>C			ENST00000397366	NM_001042625.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3912.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGAAAAAA	NONE	.	.	.	.	.	ENSP00000380524	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000397367	Transcript	.	.	ENSG00000152611	28375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAPSL_HUMAN	CAPSL	HGNC	D6RF97_HUMAN	.	UPI0000149B20	SNV	CAPSL,3_prime_UTR_variant,,ENST00000397366,;CAPSL,3_prime_UTR_variant,,ENST00000397367,;CAPSL,downstream_gene_variant,,ENST00000513623,;	865	30	44	SUCCESS
C6orf120	387263	.	GRCh37	6	170103551	170103551	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	42	80	0	ENST00000332290.2:c.*420C>A			ENST00000332290	NM_001029863.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34575.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTACGTACA	NONE	.	.	.	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,3_prime_UTR_variant,,ENST00000332290,;C6orf120,downstream_gene_variant,,ENST00000439249,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;PHF10,downstream_gene_variant,,ENST00000366780,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;PHF10,downstream_gene_variant,,ENST00000339209,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	1295	80	133	SUCCESS
NCR3	259197	.	GRCh37	6	31555021	31555021	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	11	60	0				ENST00000340027	NM_147130.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54984.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCCTAAAAGA	NONE	.	.	.	.	.	ENSP00000365261	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000376093	Transcript	.	.	ENSG00000204482	14189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LST1_HUMAN	LST1	HGNC	Q5HYT5_HUMAN	.	UPI000002E21E	SNV	LST1,5_prime_UTR_variant,,ENST00000376111,;LST1,5_prime_UTR_variant,,ENST00000376099,;LST1,5_prime_UTR_variant,,ENST00000376102,;LST1,5_prime_UTR_variant,,ENST00000438075,;LST1,5_prime_UTR_variant,,ENST00000376089,;LST1,5_prime_UTR_variant,,ENST00000396112,;LST1,5_prime_UTR_variant,,ENST00000418507,;LST1,5_prime_UTR_variant,,ENST00000376096,;LST1,5_prime_UTR_variant,,ENST00000211921,;LST1,5_prime_UTR_variant,,ENST00000339530,;LST1,5_prime_UTR_variant,,ENST00000376110,;LST1,5_prime_UTR_variant,,ENST00000376100,;LST1,5_prime_UTR_variant,,ENST00000376086,;LST1,5_prime_UTR_variant,,ENST00000433492,;LST1,5_prime_UTR_variant,,ENST00000376090,;LST1,5_prime_UTR_variant,,ENST00000376092,;LST1,5_prime_UTR_variant,,ENST00000303757,;LST1,5_prime_UTR_variant,,ENST00000376093,;LST1,upstream_gene_variant,,ENST00000464044,;LST1,upstream_gene_variant,,ENST00000396101,;LTB,upstream_gene_variant,,ENST00000429299,;NCR3,downstream_gene_variant,,ENST00000376073,;NCR3,downstream_gene_variant,,ENST00000376072,;NCR3,downstream_gene_variant,,ENST00000340027,;NCR3,downstream_gene_variant,,ENST00000376071,;LTB,upstream_gene_variant,,ENST00000446745,;LST1,upstream_gene_variant,,ENST00000490742,;LST1,non_coding_transcript_exon_variant,,ENST00000419073,;LTB,upstream_gene_variant,,ENST00000483972,;NCR3,downstream_gene_variant,,ENST00000495600,;NCR3,downstream_gene_variant,,ENST00000491161,;LST1,non_coding_transcript_exon_variant,,ENST00000464526,;LST1,upstream_gene_variant,,ENST00000460834,;LTB,upstream_gene_variant,,ENST00000482429,;	45	60	83	SUCCESS
C2	717	.	GRCh37	6	31916236	31916236	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	8	51	1				ENST00000299367	NM_000063.4	328		0	.	.	.	.	.	T	D/V	protein_coding	YES	.	2489	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCAGACAGCA	NONE	.	.	PROSITE_profiles:PS50234,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	.	.	ENSP00000410815	.	19/30	.	.	.	.	.	.	.	.	.	19/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.006)	.	tolerated(0.09)	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,missense_variant,p.Asp830Val,ENST00000456570,;CFB,missense_variant,p.Asp679Val,ENST00000477310,;CFB,missense_variant,p.Asp830Val,ENST00000556679,;CFB,missense_variant,p.Asp328Val,ENST00000425368,;NELFE,downstream_gene_variant,,ENST00000375425,;C2,downstream_gene_variant,,ENST00000299367,;CFB,upstream_gene_variant,,ENST00000483004,;C2,downstream_gene_variant,,ENST00000469372,;CFB,upstream_gene_variant,,ENST00000498317,;C2,downstream_gene_variant,,ENST00000442278,;NELFE,downstream_gene_variant,,ENST00000444811,;NELFE,downstream_gene_variant,,ENST00000375429,;C2,downstream_gene_variant,,ENST00000497706,;C2,downstream_gene_variant,,ENST00000452323,;C2,downstream_gene_variant,,ENST00000383177,;CFB,downstream_gene_variant,,ENST00000475617,;CFB,non_coding_transcript_exon_variant,,ENST00000497841,;C2,downstream_gene_variant,,ENST00000468407,;CFB,non_coding_transcript_exon_variant,,ENST00000452035,;CFB,non_coding_transcript_exon_variant,,ENST00000461483,;CFB,non_coding_transcript_exon_variant,,ENST00000465750,;CFB,downstream_gene_variant,,ENST00000460718,;CFB,downstream_gene_variant,,ENST00000472581,;NELFE,downstream_gene_variant,,ENST00000488426,;CFB,upstream_gene_variant,,ENST00000467360,;NELFE,downstream_gene_variant,,ENST00000481121,;C2,downstream_gene_variant,,ENST00000485690,;C2,downstream_gene_variant,,ENST00000486124,;CFB,upstream_gene_variant,,ENST00000482312,;CFB,upstream_gene_variant,,ENST00000482886,;C2,downstream_gene_variant,,ENST00000482060,;NELFE,downstream_gene_variant,,ENST00000492185,;CFB,upstream_gene_variant,,ENST00000467150,;	2544	52	42	SUCCESS
CAGE1	285782	.	GRCh37	6	7327057	7327057	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	84	5	53	0				ENST00000512086				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54965.1	.	MUTECT|MUSE	.	GGTTGACAAAA	NONE	.	.	.	.	.	ENSP00000425493	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000502583	Transcript	.	.	ENSG00000164304	21622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAGE1_HUMAN	CAGE1	HGNC	.	.	UPI0001C0B380	SNV	CAGE1,3_prime_UTR_variant,,ENST00000502583,;CAGE1,3_prime_UTR_variant,,ENST00000379918,;CAGE1,3_prime_UTR_variant,,ENST00000296742,;CAGE1,downstream_gene_variant,,ENST00000512086,;CAGE1,downstream_gene_variant,,ENST00000338150,;SSR1,intron_variant,,ENST00000488834,;CAGE1,3_prime_UTR_variant,,ENST00000442019,;CAGE1,3_prime_UTR_variant,,ENST00000458291,;RP11-69L16.3,downstream_gene_variant,,ENST00000404326,;	3119	53	90	SUCCESS
ZNF273	10793	.	GRCh37	7	64389498	64389498	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	22	1	ENST00000476120.1:c.*82C>T			ENST00000476120	NM_021148.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5528.2	.	SOMATICSNIPER|VARSCANS	.	ACTCCCAGAAG	NONE	.	.	.	.	.	ENSP00000418719	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000476120	Transcript	.	.	ENSG00000198039	13067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN273_HUMAN	ZNF273	HGNC	.	.	UPI0000DACAC5	SNV	ZNF273,3_prime_UTR_variant,,ENST00000476120,;ZNF273,downstream_gene_variant,,ENST00000545510,;ZNF273,downstream_gene_variant,,ENST00000319636,;ZNF273,non_coding_transcript_exon_variant,,ENST00000527278,;ZNF273,downstream_gene_variant,,ENST00000489672,;ZNF273,3_prime_UTR_variant,,ENST00000395375,;VN1R42P,upstream_gene_variant,,ENST00000424651,;	1863	23	45	SUCCESS
ARPC1A	10552	.	GRCh37	7	98963599	98963599	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs761546189	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	21	0	ENST00000262942.5:c.*47G>T			ENST00000262942	NM_001190996.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCGCAGCT	NONE	.	.	.	.	.	ENSP00000262942	.	10/10	.	.	.	.	.	.	.	.	rs761546189	10/10	PASS	ENST00000262942	Transcript	.	.	ENSG00000241685	703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARC1A_HUMAN	ARPC1A	HGNC	Q75MY0_HUMAN	.	UPI0000167B41	SNV	ARPC1A,3_prime_UTR_variant,,ENST00000262942,;ARPC1A,intron_variant,,ENST00000432884,;ARPC1A,non_coding_transcript_exon_variant,,ENST00000463009,;ARPC1A,3_prime_UTR_variant,,ENST00000432786,;ARPC1A,non_coding_transcript_exon_variant,,ENST00000477240,;ARPC1A,intron_variant,,ENST00000441989,;	1284	21	30	SUCCESS
BHLHB9	80823	.	GRCh37	X	102006907	102006907	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1360747139	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	80	93	1	ENST00000361229.4:c.*1340G>T			ENST00000361229	NM_030639.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14502.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTATGATTTA	NONE	.	.	.	.	.	ENSP00000361820	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372735	Transcript	.	.	ENSG00000198908	29353	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BHLH9_HUMAN	BHLHB9	HGNC	.	.	UPI00001C1D50	SNV	BHLHB9,3_prime_UTR_variant,,ENST00000448867,;BHLHB9,3_prime_UTR_variant,,ENST00000447531,;BHLHB9,3_prime_UTR_variant,,ENST00000372735,;BHLHB9,3_prime_UTR_variant,,ENST00000457056,;BHLHB9,3_prime_UTR_variant,,ENST00000361229,;BHLHB9,downstream_gene_variant,,ENST00000486988,;BHLHB9,downstream_gene_variant,,ENST00000483294,;	3569	94	137	SUCCESS
SPANXD	64648	.	GRCh37	X	140785577	140785577	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs1556402186	.	TCGA-DD-AAE7-01	TCGA-DD-AAE7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	274	20	227	0	ENST00000370515.3:c.*45G>C			ENST00000370515	NM_145665.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14675.1	.	MUTECT|MUSE	.	CTTCTCAAACT	NONE	.	.	.	.	.	ENSP00000359546	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000370515	Transcript	.	.	ENSG00000196406	14332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPNXD_HUMAN	SPANXD	HGNC	.	.	UPI0000070F37	SNV	SPANXD,3_prime_UTR_variant,,ENST00000370515,;	673	227	294	SUCCESS
PDGFD	80310	.	GRCh37	11	103780420	103780420	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs919643712	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	26	112	0	ENST00000393158.2:c.*2A>G			ENST00000393158				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41703.1	.	RADIA|MUTECT|MUSE	.	CATTCTCTTAT	NONE	.	.	.	.	.	ENSP00000376865	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000393158	Transcript	.	.	ENSG00000170962	30620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDGFD_HUMAN	PDGFD	HGNC	.	.	UPI0000034811	SNV	PDGFD,3_prime_UTR_variant,,ENST00000302251,;PDGFD,3_prime_UTR_variant,,ENST00000393158,;	1295	112	103	SUCCESS
TMEM25	84866	.	GRCh37	11	118405441	118405441	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	10	0	ENST00000313236.5:c.*146T>G			ENST00000313236	NM_032780.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8398.1	.	MUTECT|MUSE	.	CCATGTCATGC	NONE	.	.	.	.	.	ENSP00000315635	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000313236	Transcript	.	.	ENSG00000149582	25890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMM25_HUMAN	TMEM25	HGNC	E9PI73_HUMAN	.	UPI000000D9FB	SNV	TMEM25,3_prime_UTR_variant,,ENST00000524725,;TMEM25,3_prime_UTR_variant,,ENST00000354064,;TMEM25,3_prime_UTR_variant,,ENST00000411589,;TMEM25,3_prime_UTR_variant,,ENST00000526853,;TMEM25,3_prime_UTR_variant,,ENST00000313236,;TMEM25,3_prime_UTR_variant,,ENST00000359862,;TMEM25,intron_variant,,ENST00000354284,;TMEM25,intron_variant,,ENST00000442938,;TMEM25,intron_variant,,ENST00000533102,;TMEM25,downstream_gene_variant,,ENST00000528373,;TTC36,downstream_gene_variant,,ENST00000539546,;TTC36,downstream_gene_variant,,ENST00000302783,;TMEM25,downstream_gene_variant,,ENST00000532762,;TMEM25,downstream_gene_variant,,ENST00000533137,;TMEM25,downstream_gene_variant,,ENST00000527267,;TMEM25,downstream_gene_variant,,ENST00000526973,;TMEM25,downstream_gene_variant,,ENST00000533689,;TMEM25,downstream_gene_variant,,ENST00000544878,;RP11-770J1.3,upstream_gene_variant,,ENST00000528578,;RP11-770J1.3,upstream_gene_variant,,ENST00000556583,;RP11-770J1.3,upstream_gene_variant,,ENST00000532597,;RP11-770J1.3,upstream_gene_variant,,ENST00000554407,;RP11-770J1.3,upstream_gene_variant,,ENST00000525992,;TMEM25,downstream_gene_variant,,ENST00000532749,;TMEM25,downstream_gene_variant,,ENST00000533587,;TMEM25,downstream_gene_variant,,ENST00000528934,;TMEM25,downstream_gene_variant,,ENST00000525129,;TMEM25,downstream_gene_variant,,ENST00000530423,;TMEM25,downstream_gene_variant,,ENST00000529001,;TMEM25,non_coding_transcript_exon_variant,,ENST00000524522,;TMEM25,non_coding_transcript_exon_variant,,ENST00000533627,;TMEM25,downstream_gene_variant,,ENST00000531494,;TMEM25,downstream_gene_variant,,ENST00000525298,;TMEM25,downstream_gene_variant,,ENST00000525118,;TMEM25,downstream_gene_variant,,ENST00000526941,;TMEM25,downstream_gene_variant,,ENST00000534181,;TTC36,downstream_gene_variant,,ENST00000528570,;TMEM25,downstream_gene_variant,,ENST00000527785,;TTC36,downstream_gene_variant,,ENST00000533501,;TMEM25,downstream_gene_variant,,ENST00000529176,;	1300	10	10	SUCCESS
LRRK2	120892	.	GRCh37	12	40761622	40761622	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	147	60	184	0	ENST00000298910.7:c.*55A>G			ENST00000298910	NM_198578.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31774.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATATTTAT	NONE	.	.	.	.	.	ENSP00000298910	.	51/51	.	.	.	.	.	.	.	.	.	51/51	PASS	ENST00000298910	Transcript	.	.	ENSG00000188906	18618	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRK2_HUMAN	LRRK2	HGNC	.	.	UPI00006C128E	SNV	LRRK2,3_prime_UTR_variant,,ENST00000298910,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	7697	184	208	SUCCESS
ZNF585A	199704	.	GRCh37	19	37642489	37642489	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	6	76	0	ENST00000292841.5:c.*2A>G			ENST00000292841	NM_152655.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12499.1	.	MUTECT|MUSE|VARSCANS	.	GTTTCTCTCAA	NONE	.	.	.	.	.	ENSP00000292841	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000292841	Transcript	.	.	ENSG00000196967	26305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	Z585A_HUMAN	ZNF585A	HGNC	.	.	UPI000007213F	SNV	ZNF585A,3_prime_UTR_variant,,ENST00000292841,;ZNF585A,3_prime_UTR_variant,,ENST00000392157,;ZNF585A,3_prime_UTR_variant,,ENST00000356958,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,downstream_gene_variant,,ENST00000355533,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	2645	76	80	SUCCESS
CFHR5	81494	.	GRCh37	1	196977852	196977869	+	3_prime_UTR_variant	3'UTR	DEL	CATCTATGCTAAAAGTAG	CATCTATGCTAAAAGTAG	-	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	CATCTATGCTAAAAGTAG	CATCTATGCTAAAAGTAG	.	.	.	.	.	.	.	.	.	.	.	.	.	86	38	104	0	ENST00000256785.4:c.*40_*57del			ENST00000256785				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1387.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACATCCATCTATGCTAAAAGTAGCCATT	NONE	.	.	.	.	.	ENSP00000256785	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000256785	Transcript	.	.	ENSG00000134389	24668	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FHR5_HUMAN	CFHR5	HGNC	.	.	UPI0000043814	deletion	CFHR5,3_prime_UTR_variant,,ENST00000367414,;CFHR5,3_prime_UTR_variant,,ENST00000256785,;	1858-1875	104	124	SUCCESS
TMEM56-RWDD3	0	.	GRCh37	1	95710350	95710350	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	30	0	ENST00000604534.1:c.*544T>G			ENST00000604534	NM_001199691.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41357.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAATTATTAA	NONE	.	.	.	.	.	ENSP00000359221	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370202	Transcript	.	.	ENSG00000122481	21393	.	.	MODIFIER	2/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RWDD3_HUMAN	RWDD3	HGNC	.	.	UPI000059D012	SNV	RWDD3,3_prime_UTR_variant,,ENST00000429514,;TMEM56-RWDD3,3_prime_UTR_variant,,ENST00000604534,;RWDD3,intron_variant,,ENST00000263893,;TMEM56-RWDD3,intron_variant,,ENST00000604203,;RWDD3,intron_variant,,ENST00000370202,;RP11-57H12.5,intron_variant,,ENST00000444665,;RP11-57H12.5,downstream_gene_variant,,ENST00000598739,;RWDD3,intron_variant,,ENST00000497058,;RWDD3,intron_variant,,ENST00000495272,;RWDD3,intron_variant,,ENST00000473397,;RWDD3,downstream_gene_variant,,ENST00000492639,;RWDD3,upstream_gene_variant,,ENST00000460571,;	.	30	27	SUCCESS
NEUROG2	63973	.	GRCh37	4	113435720	113435720	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	14	0	ENST00000313341.3:c.*93A>T			ENST00000313341	NM_024019.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3698.1	.	MUTECT|MUSE	.	GGGCGTGGAAA	NONE	.	.	.	.	.	ENSP00000317333	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313341	Transcript	.	.	ENSG00000178403	13805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NGN2_HUMAN	NEUROG2	HGNC	.	.	UPI000006ED59	SNV	NEUROG2,3_prime_UTR_variant,,ENST00000313341,;RP11-402J6.1,upstream_gene_variant,,ENST00000504009,;RP11-402J6.1,upstream_gene_variant,,ENST00000506057,;	1239	14	15	SUCCESS
COX7A2	1347	.	GRCh37	6	75947596	75947596	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAE8-01	TCGA-DD-AAE8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	19	0	ENST00000230459.4:c.*50G>T			ENST00000230459	NM_001865.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34486.2	.	MUTECT|MUSE	.	TGGTCCATAGA	NONE	.	.	.	.	.	ENSP00000359098	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370081	Transcript	.	.	ENSG00000112695	2288	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	COX7A2	HGNC	H0UI06_HUMAN	.	UPI000015A446	SNV	COX7A2,stop_gained,p.Gly73Ter,ENST00000472311,;COX7A2,3_prime_UTR_variant,,ENST00000460985,;COX7A2,3_prime_UTR_variant,,ENST00000230459,;COX7A2,3_prime_UTR_variant,,ENST00000370081,;COX7A2,3_prime_UTR_variant,,ENST00000509698,;COX7A2,3_prime_UTR_variant,,ENST00000370089,;COX7A2,downstream_gene_variant,,ENST00000377978,;COX7A2,3_prime_UTR_variant,,ENST00000459637,;COX7A2,downstream_gene_variant,,ENST00000481061,;	709	19	16	SUCCESS
ZNF214	7761	.	GRCh37	11	7021007	7021007	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	22	0	ENST00000278314.4:c.*86A>G			ENST00000278314	NM_013249.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31418.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTATTTATA	NONE	.	.	.	.	.	ENSP00000278314	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000278314	Transcript	.	.	ENSG00000149050	13006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN214_HUMAN	ZNF214	HGNC	.	.	UPI000013DB6B	SNV	ZNF214,3_prime_UTR_variant,,ENST00000536068,;ZNF214,3_prime_UTR_variant,,ENST00000278314,;ZNF214,downstream_gene_variant,,ENST00000531083,;	2223	22	32	SUCCESS
GTF2H3	2967	.	GRCh37	12	124144971	124144971	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	16	0	ENST00000543341.2:c.*189T>G			ENST00000543341	NM_001271868.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9252.1	.	RADIA|MUTECT|MUSE	.	AATCATTCTAT	NONE	.	.	.	.	.	ENSP00000445162	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000543341	Transcript	.	.	ENSG00000111358	4657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TF2H3_HUMAN	GTF2H3	HGNC	B4DNZ6_HUMAN	.	UPI00000622FE	SNV	GTF2H3,3_prime_UTR_variant,,ENST00000228955,;GTF2H3,3_prime_UTR_variant,,ENST00000543341,;GTF2H3,downstream_gene_variant,,ENST00000538845,;GTF2H3,downstream_gene_variant,,ENST00000538533,;GTF2H3,downstream_gene_variant,,ENST00000543154,;GTF2H3,downstream_gene_variant,,ENST00000536375,;GTF2H3,non_coding_transcript_exon_variant,,ENST00000539429,;GTF2H3,downstream_gene_variant,,ENST00000542279,;GTF2H3,downstream_gene_variant,,ENST00000543415,;	1147	16	11	SUCCESS
MUC19	283463	.	GRCh37	12	40941623	40941623	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1489156109	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	41	109	0	ENST00000454784.4:c.*6450T>C			ENST00000454784				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAATACAGG	NONE	.	.	.	.	.	ENSP00000476404	.	62/84	.	.	.	.	.	.	.	.	.	62/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,upstream_gene_variant,,ENST00000542482,;MUC19,non_coding_transcript_exon_variant,,ENST00000492952,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,synonymous_variant,p.%3D,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000541039,;	18076	109	105	SUCCESS
SLC26A10	65012	.	GRCh37	12	58019634	58019634	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	2	13	0	ENST00000320442.4:c.*106A>G			ENST00000320442	NM_133489.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8949.2	.	MUTECT|MUSE	.	AGACCAAATCA	NONE	.	.	.	.	.	ENSP00000320217	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000320442	Transcript	.	.	ENSG00000135502	14470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S2610_HUMAN	SLC26A10	HGNC	.	.	UPI000007059E	SNV	SLC26A10,3_prime_UTR_variant,,ENST00000379218,;SLC26A10,3_prime_UTR_variant,,ENST00000320442,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;B4GALNT1,downstream_gene_variant,,ENST00000341156,;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000550764,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;B4GALNT1,downstream_gene_variant,,ENST00000418555,;SLC26A10,intron_variant,,ENST00000483647,;SLC26A10,intron_variant,,ENST00000490243,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;SLC26A10,intron_variant,,ENST00000487816,;SLC26A10,intron_variant,,ENST00000440686,;SLC26A10,intron_variant,,ENST00000474359,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;SLC26A10,downstream_gene_variant,,ENST00000497297,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;SLC26A10,downstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;	2109	13	9	SUCCESS
CDC42BPB	9578	.	GRCh37	14	103399961	103399961	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1274287793	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	18	0	ENST00000361246.2:c.*88A>C			ENST00000361246	NM_006035.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9978.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTTCCTTGGAC	NONE	.	.	.	.	.	ENSP00000355237	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000361246	Transcript	.	.	ENSG00000198752	1738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MRCKB_HUMAN	CDC42BPB	HGNC	.	.	UPI000013D27E	SNV	CDC42BPB,3_prime_UTR_variant,,ENST00000361246,;AMN,downstream_gene_variant,,ENST00000559525,;AMN,downstream_gene_variant,,ENST00000299155,;AMN,downstream_gene_variant,,ENST00000559789,;RP11-365N19.2,non_coding_transcript_exon_variant,,ENST00000560931,;AMN,downstream_gene_variant,,ENST00000558590,;AMN,downstream_gene_variant,,ENST00000559507,;AMN,downstream_gene_variant,,ENST00000559442,;AMN,downstream_gene_variant,,ENST00000541086,;	5513	18	19	SUCCESS
C14orf119	55017	.	GRCh37	14	23568171	23568171	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	22	81	0	ENST00000319074.4:c.*881G>T			ENST00000319074	NM_017924.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9588.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCTGGCCTT	NONE	.	.	.	.	.	ENSP00000322238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319074	Transcript	.	.	ENSG00000179933	20270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN119_HUMAN	C14orf119	HGNC	.	.	UPI000006E710	SNV	C14orf119,3_prime_UTR_variant,,ENST00000319074,;C14orf119,downstream_gene_variant,,ENST00000554203,;ACIN1,upstream_gene_variant,,ENST00000605057,;ACIN1,upstream_gene_variant,,ENST00000262710,;ACIN1,upstream_gene_variant,,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000457657,;	2160	81	93	SUCCESS
HERPUD1	9709	.	GRCh37	16	56977416	56977416	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	11	0	ENST00000439977.2:c.*214T>C			ENST00000439977	NM_014685.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10771.1	.	MUTECT|MUSE	.	TATTCTGAAGA	NONE	.	.	.	.	.	ENSP00000409555	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000439977	Transcript	.	.	ENSG00000051108	13744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HERP1_HUMAN	HERPUD1	HGNC	Q9HBR2_HUMAN,B4E3N8_HUMAN	.	UPI0000000B03	SNV	HERPUD1,3_prime_UTR_variant,,ENST00000344114,;HERPUD1,3_prime_UTR_variant,,ENST00000563911,;HERPUD1,3_prime_UTR_variant,,ENST00000568358,;HERPUD1,3_prime_UTR_variant,,ENST00000379792,;HERPUD1,3_prime_UTR_variant,,ENST00000300302,;HERPUD1,3_prime_UTR_variant,,ENST00000439977,;HERPUD1,downstream_gene_variant,,ENST00000569429,;HERPUD1,downstream_gene_variant,,ENST00000563343,;HERPUD1,downstream_gene_variant,,ENST00000568651,;RP11-325K4.3,downstream_gene_variant,,ENST00000565861,;RP11-325K4.2,downstream_gene_variant,,ENST00000570210,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000570273,;HERPUD1,downstream_gene_variant,,ENST00000568814,;HERPUD1,downstream_gene_variant,,ENST00000563781,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000564678,;HERPUD1,downstream_gene_variant,,ENST00000565966,;HERPUD1,downstream_gene_variant,,ENST00000567944,;	1587	11	10	SUCCESS
CST9L	128821	.	GRCh37	20	23545571	23545571	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs780118220	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	10	59	0	ENST00000376979.3:c.*14A>G			ENST00000376979	NM_080610.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13157.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTGTGAGTG	NONE	.	.	.	.	.	ENSP00000366178	.	3/3	.	.	.	.	.	.	.	.	rs780118220	3/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,3_prime_UTR_variant,,ENST00000376979,;	757	59	47	SUCCESS
APOBEC3F	200316	.	GRCh37	22	39448773	39448773	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	32	0	ENST00000308521.5:c.*73T>C			ENST00000308521	NM_145298.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33648.1	.	MUTECT|MUSE	.	CATCCTGGACC	NONE	.	.	.	.	.	ENSP00000309749	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000308521	Transcript	.	.	ENSG00000128394	17356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABC3F_HUMAN	APOBEC3F	HGNC	B4DGW8_HUMAN	.	UPI000016074C	SNV	APOBEC3F,3_prime_UTR_variant,,ENST00000308521,;APOBEC3G,intron_variant,,ENST00000452957,;APOBEC3F,downstream_gene_variant,,ENST00000476513,;	1552	32	26	SUCCESS
APOBEC3F	200316	.	GRCh37	22	39448780	39448780	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	6	29	0	ENST00000308521.5:c.*80G>C			ENST00000308521	NM_145298.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33648.1	.	MUTECT|MUSE	.	GACCAGCTGTG	NONE	.	.	.	.	.	ENSP00000309749	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000308521	Transcript	.	.	ENSG00000128394	17356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABC3F_HUMAN	APOBEC3F	HGNC	B4DGW8_HUMAN	.	UPI000016074C	SNV	APOBEC3F,3_prime_UTR_variant,,ENST00000308521,;APOBEC3G,intron_variant,,ENST00000452957,;APOBEC3F,downstream_gene_variant,,ENST00000476513,;	1559	29	24	SUCCESS
LRRFIP1	9208	.	GRCh37	2	238672955	238672955	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1433227061	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	39	116	0	ENST00000392000.4:c.*172A>G			ENST00000392000	NM_001137552.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46552.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTAATCATT	NONE	.	.	.	.	.	ENSP00000375857	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000392000	Transcript	.	.	ENSG00000124831	6702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRF1_HUMAN	LRRFIP1	HGNC	.	.	UPI0000DD0949	SNV	LRRFIP1,3_prime_UTR_variant,,ENST00000289175,;LRRFIP1,3_prime_UTR_variant,,ENST00000244815,;LRRFIP1,3_prime_UTR_variant,,ENST00000392000,;LRRFIP1,intron_variant,,ENST00000308482,;LRRFIP1,intron_variant,,ENST00000483443,;LRRFIP1,upstream_gene_variant,,ENST00000478958,;	2716	116	103	SUCCESS
ARHGAP24	83478	.	GRCh37	4	86922032	86922032	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	38	0	ENST00000395184.1:c.*157G>T			ENST00000395184	NM_001025616.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34025.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATGTGTAC	NONE	.	.	.	.	.	ENSP00000378611	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000395184	Transcript	1	.	ENSG00000138639	25361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHG24_HUMAN	ARHGAP24	HGNC	D6RHH1_HUMAN,B3KUX7_HUMAN	.	UPI00001AF1D9	SNV	ARHGAP24,3_prime_UTR_variant,,ENST00000264343,;ARHGAP24,3_prime_UTR_variant,,ENST00000395184,;ARHGAP24,3_prime_UTR_variant,,ENST00000395183,;ARHGAP24,downstream_gene_variant,,ENST00000514229,;RP13-514E23.2,upstream_gene_variant,,ENST00000610225,;	2870	38	26	SUCCESS
DOK3	79930	.	GRCh37	5	176930063	176930063	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	59	0				ENST00000357198	NM_024872.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4426.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGGTGTGTG	NONE	.	688	.	.	.	ENSP00000349727	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357198	Transcript	.	.	ENSG00000146094	24583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOK3_HUMAN	DOK3	HGNC	D6RC22_HUMAN,D6RAZ9_HUMAN,D6RAV2_HUMAN,D6RAM3_HUMAN,D6R977_HUMAN,D6R951_HUMAN	.	UPI000013DA2C	SNV	DOK3,missense_variant,p.Thr326Ser,ENST00000312943,;DOK3,missense_variant,p.Thr224Ser,ENST00000377112,;DOK3,downstream_gene_variant,,ENST00000506493,;DOK3,downstream_gene_variant,,ENST00000357198,;DOK3,downstream_gene_variant,,ENST00000502885,;DOK3,downstream_gene_variant,,ENST00000510380,;DOK3,downstream_gene_variant,,ENST00000501403,;RP11-1334A24.6,intron_variant,,ENST00000506025,;DOK3,non_coding_transcript_exon_variant,,ENST00000500323,;	.	59	44	SUCCESS
HIST1H2BG	0	.	GRCh37	6	26216471	26216471	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	27	70	0	ENST00000244601.3:c.*20A>C			ENST00000244601	NM_003518.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4594.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTTAAAGC	NONE	.	.	.	.	.	ENSP00000244601	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244601	Transcript	.	.	ENSG00000187990	4746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BG	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BG,3_prime_UTR_variant,,ENST00000244601,;HIST1H2AE,upstream_gene_variant,,ENST00000303910,;	402	70	145	SUCCESS
GTPBP2	54676	.	GRCh37	6	43589111	43589111	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs907751187	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	40	48	0	ENST00000307126.5:c.*240G>C			ENST00000307126	NM_019096.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4903.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAACCAGGT	NONE	.	.	.	.	.	ENSP00000303997	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000307126	Transcript	.	.	ENSG00000172432	4670	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GTPB2_HUMAN	GTPBP2	HGNC	.	.	UPI0000070C45	SNV	GTPBP2,3_prime_UTR_variant,,ENST00000307114,;GTPBP2,3_prime_UTR_variant,,ENST00000307126,;GTPBP2,3_prime_UTR_variant,,ENST00000419497,;GTPBP2,3_prime_UTR_variant,,ENST00000432918,;POLH,downstream_gene_variant,,ENST00000535400,;GTPBP2,downstream_gene_variant,,ENST00000452781,;GTPBP2,downstream_gene_variant,,ENST00000442748,;GTPBP2,non_coding_transcript_exon_variant,,ENST00000476510,;GTPBP2,downstream_gene_variant,,ENST00000480263,;GTPBP2,downstream_gene_variant,,ENST00000459959,;GTPBP2,intron_variant,,ENST00000496137,;	2049	48	107	SUCCESS
TPBG	7162	.	GRCh37	6	83076070	83076070	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	51	167	0	ENST00000369750.3:c.*129G>A			ENST00000369750				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4995.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGGATTT	NONE	.	.	.	.	.	ENSP00000358765	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369750	Transcript	.	.	ENSG00000146242	12004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPBG_HUMAN	TPBG	HGNC	A8K555_HUMAN	.	UPI000004CAD5	SNV	TPBG,3_prime_UTR_variant,,ENST00000369750,;TPBG,3_prime_UTR_variant,,ENST00000535040,;TPBG,3_prime_UTR_variant,,ENST00000543496,;	2009	167	82	SUCCESS
FUT9	10690	.	GRCh37	6	96652993	96652993	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAE9-01	TCGA-DD-AAE9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	61	261	0	ENST00000302103.5:c.*882G>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTATGTATCA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	2288	261	132	SUCCESS
RPEL1	729020	.	GRCh37	10	105007216	105007216	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	116	49	140	0	ENST00000441178.2:c.*776T>G			ENST00000441178	NM_001143909.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS65929.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTTTCTCT	NONE	.	.	.	.	.	ENSP00000476672	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000441178	Transcript	.	.	ENSG00000235376	45241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RPEL1	HGNC	Q2QD12_HUMAN	.	UPI00001C1ED0	SNV	RPEL1,3_prime_UTR_variant,,ENST00000441178,;	1573	140	166	SUCCESS
PHYH	5264	.	GRCh37	10	13320075	13320075	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	2	10	0	ENST00000263038.4:c.*226A>G			ENST00000263038	NM_006214.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7097.1	.	MUTECT|MUSE	.	TAAATTAGTTT	NONE	.	.	.	.	.	ENSP00000263038	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000263038	Transcript	1	.	ENSG00000107537	8940	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAHX_HUMAN	PHYH	HGNC	C9IYS5_HUMAN	.	UPI0000131215	SNV	PHYH,3_prime_UTR_variant,,ENST00000396913,;PHYH,3_prime_UTR_variant,,ENST00000396920,;PHYH,3_prime_UTR_variant,,ENST00000263038,;	1302	10	9	SUCCESS
PTEN	5728	.	GRCh37	10	89725276	89725276	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	72	148	0	ENST00000371953.3:c.*47A>G			ENST00000371953	NM_000314.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31238.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAATAAAC	NONE	.	.	.	.	.	ENSP00000361021	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371953	Transcript	1	.	ENSG00000171862	9588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTEN_HUMAN	PTEN	HGNC	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN	.	UPI00001328C5	SNV	PTEN,3_prime_UTR_variant,,ENST00000371953,;PTEN,downstream_gene_variant,,ENST00000472832,;	2616	148	226	SUCCESS
GRIA4	2893	.	GRCh37	11	105850471	105850472	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs748260664	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	45	19	46	0	ENST00000282499.5:c.*12dup			ENST00000282499	NM_000829.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8333.1	.	INDELOCATOR|VARSCANI	.	AAAACCAAAAA	NONE	byFrequency	.	.	.	.	ENSP00000282499	.	17/17	.	.	.	.	.	.	.	.	rs748260664	17/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	insertion	GRIA4,3_prime_UTR_variant,,ENST00000282499,;GRIA4,3_prime_UTR_variant,,ENST00000530497,;GRIA4,3_prime_UTR_variant,,ENST00000393127,;GRIA4,downstream_gene_variant,,ENST00000525187,;RNU6-277P,upstream_gene_variant,,ENST00000516272,;GRIA4,non_coding_transcript_exon_variant,,ENST00000533094,;	3160-3161	46	64	SUCCESS
PC	5091	.	GRCh37	11	66616162	66616162	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	11	0	ENST00000393955.2:c.*208A>G			ENST00000393955	NM_022172.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8152.1	.	RADIA|MUTECT	.	AGAGATGAACA	NONE	.	.	.	.	.	ENSP00000377532	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000393960	Transcript	.	.	ENSG00000173599	8636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PYC_HUMAN	PC	HGNC	E9PS68_HUMAN	.	UPI0000132BC4	SNV	PC,3_prime_UTR_variant,,ENST00000393958,;PC,3_prime_UTR_variant,,ENST00000393955,;PC,3_prime_UTR_variant,,ENST00000393960,;PC,3_prime_UTR_variant,,ENST00000529047,;RCE1,downstream_gene_variant,,ENST00000524506,;RCE1,downstream_gene_variant,,ENST00000525356,;RCE1,downstream_gene_variant,,ENST00000309657,;PC,non_coding_transcript_exon_variant,,ENST00000528224,;PC,downstream_gene_variant,,ENST00000530259,;RCE1,downstream_gene_variant,,ENST00000534645,;PC,downstream_gene_variant,,ENST00000529352,;RCE1,downstream_gene_variant,,ENST00000533277,;RCE1,downstream_gene_variant,,ENST00000524849,;RCE1,downstream_gene_variant,,ENST00000532775,;RCE1,downstream_gene_variant,,ENST00000534822,;RCE1,downstream_gene_variant,,ENST00000530610,;	4027	11	11	SUCCESS
DAZAP2	9802	.	GRCh37	12	51636556	51636556	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	11	0	ENST00000412716.3:c.*314A>G			ENST00000412716				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44885.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAATAAAA	NONE	.	.	.	.	.	ENSP00000448051	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000549555	Transcript	.	.	ENSG00000183283	2684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DAZP2_HUMAN	DAZAP2	HGNC	.	.	UPI000183CBDB	SNV	DAZAP2,3_prime_UTR_variant,,ENST00000549555,;DAZAP2,3_prime_UTR_variant,,ENST00000449723,;DAZAP2,3_prime_UTR_variant,,ENST00000439799,;DAZAP2,3_prime_UTR_variant,,ENST00000412716,;DAZAP2,intron_variant,,ENST00000425012,;DAZAP2,intron_variant,,ENST00000604900,;SMAGP,downstream_gene_variant,,ENST00000603864,;SMAGP,downstream_gene_variant,,ENST00000605426,;SMAGP,downstream_gene_variant,,ENST00000605627,;DAZAP2,downstream_gene_variant,,ENST00000551313,;SMAGP,downstream_gene_variant,,ENST00000603838,;SMAGP,downstream_gene_variant,,ENST00000398453,;SMAGP,downstream_gene_variant,,ENST00000604188,;DAZAP2,downstream_gene_variant,,ENST00000549732,;SMAGP,downstream_gene_variant,,ENST00000603798,;DAZAP2,downstream_gene_variant,,ENST00000552173,;DAZAP2,downstream_gene_variant,,ENST00000551919,;DAZAP2,downstream_gene_variant,,ENST00000549497,;DAZAP2,downstream_gene_variant,,ENST00000551534,;DAZAP2,3_prime_UTR_variant,,ENST00000436900,;DAZAP2,non_coding_transcript_exon_variant,,ENST00000552459,;SMAGP,downstream_gene_variant,,ENST00000380103,;DAZAP2,downstream_gene_variant,,ENST00000549041,;	828	11	18	SUCCESS
DIO3	1735	.	GRCh37	14	102029214	102029214	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	30	85	0	ENST00000510508.4:c.*466G>C			ENST00000510508				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41992.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGCGGAGAG	NONE	.	.	.	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,3_prime_UTR_variant,,ENST00000510508,;DIO3,3_prime_UTR_variant,,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	1527	85	89	SUCCESS
FBXO33	254170	.	GRCh37	14	39868453	39868453	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	8	0	ENST00000298097.7:c.*267T>C			ENST00000298097	NM_203301.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9677.1	.	MUTECT|MUSE	.	TAGCCAGCAAC	NONE	.	.	.	.	.	ENSP00000298097	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000298097	Transcript	.	.	ENSG00000165355	19833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX33_HUMAN	FBXO33	HGNC	B4DFK5_HUMAN	.	UPI00001605E2	SNV	FBXO33,3_prime_UTR_variant,,ENST00000298097,;FBXO33,downstream_gene_variant,,ENST00000554190,;	2273	8	9	SUCCESS
SMAD3	4088	.	GRCh37	15	67482939	67482939	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs182280596	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	44	10	40	0	ENST00000327367.4:c.*65T>G			ENST00000327367	NM_005902.3			0	.	C:0.0038	.	C:0	.	G	.	protein_coding	YES	CCDS10222.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAATTGGAA	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000332973	C:0	9/9	.	.	.	.	.	.	.	.	rs182280596	9/9	PASS	ENST00000327367	Transcript	1	C:0.0010	ENSG00000166949	6769	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	SMAD3_HUMAN	SMAD3	HGNC	Q68DS8_HUMAN,H3BP09_HUMAN,H0YNV1_HUMAN,H0YMP2_HUMAN,H0YL71_HUMAN,H0YKE2_HUMAN	.	UPI0000023A91	SNV	SMAD3,3_prime_UTR_variant,,ENST00000560424,;SMAD3,3_prime_UTR_variant,,ENST00000327367,;SMAD3,3_prime_UTR_variant,,ENST00000537194,;SMAD3,3_prime_UTR_variant,,ENST00000540846,;SMAD3,3_prime_UTR_variant,,ENST00000439724,;SMAD3,downstream_gene_variant,,ENST00000558894,;SMAD3,non_coding_transcript_exon_variant,,ENST00000558763,;SMAD3,intron_variant,,ENST00000560402,;	1653	40	54	SUCCESS
SV2B	9899	.	GRCh37	15	91835896	91835896	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	20	0	ENST00000330276.4:c.*114G>T			ENST00000330276				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10370.1	.	MUTECT|MUSE	.	GAGAAGTTGAC	NONE	.	.	.	.	.	ENSP00000377779	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000394232	Transcript	.	.	ENSG00000185518	16874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SV2B_HUMAN	SV2B	HGNC	.	.	UPI000006FCF1	SNV	SV2B,3_prime_UTR_variant,,ENST00000330276,;SV2B,3_prime_UTR_variant,,ENST00000394232,;SV2B,downstream_gene_variant,,ENST00000545111,;SV2B,3_prime_UTR_variant,,ENST00000557410,;	2636	20	26	SUCCESS
IGF1R	3480	.	GRCh37	15	99500708	99500708	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	57	0	ENST00000268035.6:c.*37G>A			ENST00000268035	NM_000875.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10378.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTGCGCAC	NONE	.	.	.	.	.	ENSP00000268035	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000268035	Transcript	1	.	ENSG00000140443	5465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IGF1R_HUMAN	IGF1R	HGNC	H0YNR0_HUMAN,H0YMJ5_HUMAN	.	UPI000012D3EA	SNV	IGF1R,3_prime_UTR_variant,,ENST00000558762,;IGF1R,3_prime_UTR_variant,,ENST00000268035,;RP11-654A16.3,intron_variant,,ENST00000559468,;IGF1R,downstream_gene_variant,,ENST00000558751,;	4752	57	68	SUCCESS
ADAMTS18	170692	.	GRCh37	16	77317701	77317701	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	25	0	ENST00000282849.5:c.*152G>T			ENST00000282849	NM_199355.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10926.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCAACCT	NONE	.	.	.	.	.	ENSP00000282849	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000282849	Transcript	.	.	ENSG00000140873	17110	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS18_HUMAN	ADAMTS18	HGNC	.	.	UPI0000233610	SNV	ADAMTS18,3_prime_UTR_variant,,ENST00000282849,;ADAMTS18,intron_variant,,ENST00000562332,;RP11-538I12.3,intron_variant,,ENST00000561672,;	4237	25	43	SUCCESS
NR2C2AP	126382	.	GRCh37	19	19312257	19312257	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	14	0	ENST00000331552.7:c.*477T>C			ENST00000331552	NM_176880.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32967.1	.	MUTECT|MUSE	.	TGAAAAGCTAC	NONE	.	.	.	.	.	ENSP00000332823	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331552	Transcript	.	.	ENSG00000184162	30763	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NR2CA_HUMAN	NR2C2AP	HGNC	.	.	UPI000000D81B	SNV	NR2C2AP,3_prime_UTR_variant,,ENST00000420605,;NR2C2AP,3_prime_UTR_variant,,ENST00000331552,;RFXANK,intron_variant,,ENST00000407360,;RFXANK,intron_variant,,ENST00000536253,;RFXANK,intron_variant,,ENST00000303088,;RFXANK,intron_variant,,ENST00000353145,;RFXANK,intron_variant,,ENST00000456252,;RFXANK,intron_variant,,ENST00000392324,;RFXANK,intron_variant,,ENST00000544923,;NR2C2AP,downstream_gene_variant,,ENST00000539678,;RFXANK,downstream_gene_variant,,ENST00000535017,;NR2C2AP,downstream_gene_variant,,ENST00000544883,;RFXANK,downstream_gene_variant,,ENST00000593273,;NR2C2AP,downstream_gene_variant,,ENST00000538165,;RFXANK,downstream_gene_variant,,ENST00000421262,;RFXANK,downstream_gene_variant,,ENST00000540981,;NR2C2AP,non_coding_transcript_exon_variant,,ENST00000537399,;RFXANK,intron_variant,,ENST00000540977,;NR2C2AP,downstream_gene_variant,,ENST00000539693,;RFXANK,downstream_gene_variant,,ENST00000543118,;RFXANK,downstream_gene_variant,,ENST00000541873,;RFXANK,downstream_gene_variant,,ENST00000543157,;RFXANK,downstream_gene_variant,,ENST00000545522,;	1261	14	8	SUCCESS
B3GALT6	126792	.	GRCh37	1	1168726	1168726	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	38	0	ENST00000379198.2:c.*78G>T			ENST00000379198	NM_080605.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13.1	.	MUTECT|MUSE|VARSCANS	.	ACTACGCCCGG	NONE	.	.	.	.	.	ENSP00000368496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379198	Transcript	.	.	ENSG00000176022	17978	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	B3GT6_HUMAN	B3GALT6	HGNC	.	.	UPI0000141885	SNV	B3GALT6,3_prime_UTR_variant,,ENST00000379198,;SDF4,upstream_gene_variant,,ENST00000403997,;SDF4,upstream_gene_variant,,ENST00000360001,;SDF4,upstream_gene_variant,,ENST00000545427,;SDF4,upstream_gene_variant,,ENST00000263741,;SDF4,upstream_gene_variant,,ENST00000459994,;SDF4,upstream_gene_variant,,ENST00000465727,;	1098	38	34	SUCCESS
HRNR	388697	.	GRCh37	1	152185403	152185403	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	34	0	ENST00000368801.2:c.*149A>G			ENST00000368801	NM_001009931.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30859.1	.	MUTECT|MUSE	.	TACAGTTTTAG	NONE	.	.	.	.	.	ENSP00000357791	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368801	Transcript	.	.	ENSG00000197915	20846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HORN_HUMAN	HRNR	HGNC	Q5W8V9_HUMAN	.	UPI00001D7CAD	SNV	HRNR,3_prime_UTR_variant,,ENST00000368801,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	8778	34	46	SUCCESS
LRRC71	149499	.	GRCh37	1	156902784	156902784	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	18	67	0	ENST00000337428.7:c.*23T>C			ENST00000337428	NM_144702.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44249.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTCTAAGAC	NONE	.	.	.	.	.	ENSP00000336661	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000337428	Transcript	.	.	ENSG00000160838	26556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC71_HUMAN	LRRC71	HGNC	.	.	UPI00000719B9	SNV	LRRC71,3_prime_UTR_variant,,ENST00000337428,;ARHGEF11,downstream_gene_variant,,ENST00000361409,;ARHGEF11,downstream_gene_variant,,ENST00000315174,;ARHGEF11,downstream_gene_variant,,ENST00000368194,;MIR765,downstream_gene_variant,,ENST00000390226,;LRRC71,non_coding_transcript_exon_variant,,ENST00000476550,;LRRC71,non_coding_transcript_exon_variant,,ENST00000472465,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;ARHGEF11,downstream_gene_variant,,ENST00000487682,;ARHGEF11,downstream_gene_variant,,ENST00000492592,;	1857	67	83	SUCCESS
HSPB7	27129	.	GRCh37	1	16345754	16345754	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	39	0				ENST00000311890	NM_014424.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30611.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAATGCCTC	NONE	.	469	.	.	.	ENSP00000310111	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311890	Transcript	.	.	ENSG00000173641	5249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSPB7_HUMAN	HSPB7	HGNC	.	.	UPI0000000C78	SNV	HSPB7,missense_variant,p.Ile71Phe,ENST00000375718,;HSPB7,upstream_gene_variant,,ENST00000487046,;HSPB7,upstream_gene_variant,,ENST00000463576,;HSPB7,upstream_gene_variant,,ENST00000311890,;HSPB7,upstream_gene_variant,,ENST00000411503,;HSPB7,upstream_gene_variant,,ENST00000545268,;CLCNKA,upstream_gene_variant,,ENST00000331433,;CLCNKA,upstream_gene_variant,,ENST00000420078,;CLCNKA,upstream_gene_variant,,ENST00000439316,;CLCNKA,upstream_gene_variant,,ENST00000375692,;HSPB7,upstream_gene_variant,,ENST00000406363,;CLCNKA,intron_variant,,ENST00000464764,;CLCNKA,upstream_gene_variant,,ENST00000495784,;CLCNKA,upstream_gene_variant,,ENST00000477360,;HSPB7,upstream_gene_variant,,ENST00000442459,;	.	39	40	SUCCESS
DENND1B	163486	.	GRCh37	1	197521990	197521990	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	25	0	ENST00000367396.3:c.*121G>T			ENST00000367396	NM_144977.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41452.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAAGCTAATT	NONE	.	.	.	.	.	ENSP00000356366	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000367396	Transcript	.	.	ENSG00000213047	28404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEN1B_HUMAN	DENND1B	HGNC	.	.	UPI0000227E74	SNV	DENND1B,3_prime_UTR_variant,,ENST00000235453,;DENND1B,3_prime_UTR_variant,,ENST00000367396,;DENND1B,3_prime_UTR_variant,,ENST00000400967,;DENND1B,intron_variant,,ENST00000391979,;DENND1B,intron_variant,,ENST00000294737,;	1572	25	44	SUCCESS
C1orf65	0	.	GRCh37	1	223568806	223568806	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	144	201	0	ENST00000366875.3:c.*117A>G			ENST00000366875	NM_152610.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1537.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCAATTTC	NONE	.	.	.	.	.	ENSP00000355840	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000366875	Transcript	.	.	ENSG00000178395	26654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA065_HUMAN	C1orf65	HGNC	.	.	UPI000006F948	SNV	C1orf65,3_prime_UTR_variant,,ENST00000366875,;	2092	201	303	SUCCESS
GJB3	2707	.	GRCh37	1	35251615	35251615	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	28	72	0	ENST00000373362.3:c.*439A>C			ENST00000373362	NM_001005752.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS384.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTAGCCTC	NONE	.	.	.	.	.	ENSP00000362464	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000373366	Transcript	.	.	ENSG00000188910	4285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB3_HUMAN	GJB3	HGNC	A1YRJ5_HUMAN	.	UPI00001287EC	SNV	GJB3,3_prime_UTR_variant,,ENST00000373366,;GJB3,3_prime_UTR_variant,,ENST00000373362,;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	1867	72	77	SUCCESS
BTG3	10950	.	GRCh37	21	18966228	18966228	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	20	0	ENST00000348354.6:c.*183T>C			ENST00000348354	NM_006806.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46636.1	.	MUTECT|MUSE	.	ACTATATCAAT	NONE	.	.	.	.	.	ENSP00000344609	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000339775	Transcript	.	.	ENSG00000154640	1132	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BTG3_HUMAN	BTG3	HGNC	Q9UHB2_HUMAN,C9JLA2_HUMAN	.	UPI000002A504	SNV	BTG3,3_prime_UTR_variant,,ENST00000348354,;BTG3,3_prime_UTR_variant,,ENST00000339775,;CXADR,downstream_gene_variant,,ENST00000400169,;BTG3,downstream_gene_variant,,ENST00000496601,;BTG3,downstream_gene_variant,,ENST00000471860,;	1228	20	26	SUCCESS
DGCR2	9993	.	GRCh37	22	19026131	19026131	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	13	0	ENST00000263196.7:c.*247T>A			ENST00000263196	NM_001184781.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33598.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTATAAAG	NONE	.	.	.	.	.	ENSP00000263196	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263196	Transcript	.	.	ENSG00000070413	2845	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IDD_HUMAN	DGCR2	HGNC	B7Z8B7_HUMAN,B7Z3C4_HUMAN	.	UPI0000001613	SNV	DGCR2,3_prime_UTR_variant,,ENST00000263196,;DGCR2,3_prime_UTR_variant,,ENST00000545799,;DGCR2,3_prime_UTR_variant,,ENST00000537045,;DGCR2,3_prime_UTR_variant,,ENST00000389262,;DGCR2,non_coding_transcript_exon_variant,,ENST00000467659,;CA15P1,upstream_gene_variant,,ENST00000481698,;	2148	13	18	SUCCESS
GLS	2744	.	GRCh37	2	191827821	191827821	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	34	0	ENST00000320717.3:c.*109T>C			ENST00000320717	NM_014905.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2308.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCATTTCAG	NONE	.	.	.	.	.	ENSP00000317379	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000320717	Transcript	.	.	ENSG00000115419	4331	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLSK_HUMAN	GLS	HGNC	Q53TX0_HUMAN,Q53S89_HUMAN,Q53RX0_HUMAN,C9JIJ6_HUMAN,B7Z509_HUMAN	.	UPI000012B7F6	SNV	GLS,3_prime_UTR_variant,,ENST00000412247,;GLS,3_prime_UTR_variant,,ENST00000320717,;GLS,3_prime_UTR_variant,,ENST00000409428,;STAT1,downstream_gene_variant,,ENST00000415035,;	2377	34	38	SUCCESS
HADHB	3032	.	GRCh37	2	26512868	26512868	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	43	0	ENST00000317799.5:c.*47A>C			ENST00000317799	NM_000183.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1722.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACTAGGCAA	NONE	.	.	.	.	.	ENSP00000325136	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000317799	Transcript	.	.	ENSG00000138029	4803	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ECHB_HUMAN	HADHB	HGNC	C9K0M0_HUMAN,C9JEY0_HUMAN,C9JE81_HUMAN	.	UPI0000129B6F	SNV	HADHB,3_prime_UTR_variant,,ENST00000405867,;HADHB,3_prime_UTR_variant,,ENST00000545822,;HADHB,3_prime_UTR_variant,,ENST00000537713,;HADHB,3_prime_UTR_variant,,ENST00000317799,;HADHB,non_coding_transcript_exon_variant,,ENST00000494615,;	1576	43	53	SUCCESS
RETSAT	54884	.	GRCh37	2	85570304	85570304	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	28	85	0	ENST00000295802.4:c.*61C>G			ENST00000295802	NM_017750.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1972.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGGGTAAG	NONE	.	.	.	.	.	ENSP00000295802	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000295802	Transcript	.	.	ENSG00000042445	25991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RETST_HUMAN	RETSAT	HGNC	I0EZ74_HUMAN	.	UPI000003BBD9	SNV	RETSAT,3_prime_UTR_variant,,ENST00000263854,;RETSAT,3_prime_UTR_variant,,ENST00000295802,;RETSAT,3_prime_UTR_variant,,ENST00000449375,;RETSAT,3_prime_UTR_variant,,ENST00000457495,;RETSAT,downstream_gene_variant,,ENST00000475624,;RETSAT,3_prime_UTR_variant,,ENST00000429806,;RETSAT,3_prime_UTR_variant,,ENST00000438611,;PEBP1P2,upstream_gene_variant,,ENST00000603980,;	2007	85	101	SUCCESS
RAP2B	5912	.	GRCh37	3	152883123	152883123	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	40	82	1	ENST00000323534.2:c.*2089A>G			ENST00000323534	NM_002886.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTGACCTCA	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,3_prime_UTR_variant,,ENST00000323534,;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	3095	83	107	SUCCESS
UBTD2	92181	.	GRCh37	5	171638799	171638799	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs780806415	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	22	72	0	ENST00000393792.2:c.*35G>A			ENST00000393792	NM_152277.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4379.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGAGCAGAGG	NONE	byFrequency	.	.	.	.	ENSP00000377381	.	3/3	.	.	.	.	.	.	.	.	rs780806415	3/3	PASS	ENST00000393792	Transcript	.	.	ENSG00000168246	24463	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBTD2_HUMAN	UBTD2	HGNC	B3KMW8_HUMAN,B2R886_HUMAN	.	UPI000020C12C	SNV	UBTD2,3_prime_UTR_variant,,ENST00000393792,;	1146	72	69	SUCCESS
STX11	8676	.	GRCh37	6	144509135	144509135	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs917440273	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	35	106	0	ENST00000367568.4:c.*507A>G			ENST00000367568	NM_003764.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5205.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCTACGCTA	NONE	.	.	.	.	.	ENSP00000356540	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367568	Transcript	.	.	ENSG00000135604	11429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX11_HUMAN	STX11	HGNC	.	.	UPI0000001C25	SNV	STX11,3_prime_UTR_variant,,ENST00000367568,;	1554	106	106	SUCCESS
RPL35AP4	100048922	.	GRCh37	6	33359514	33359514	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	29	0				ENST00000412007				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34430.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGAGAACG	NONE	.	.	.	.	.	ENSP00000393963	.	1/11	.	.	.	.	.	.	.	.	.	1/11	PASS	ENST00000428849	Transcript	.	.	ENSG00000237649	6389	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIFC1_HUMAN	KIFC1	HGNC	.	.	UPI000012DDB8	SNV	KIFC1,5_prime_UTR_variant,,ENST00000428849,;KIFC1,upstream_gene_variant,,ENST00000450504,;RPL35AP4,upstream_gene_variant,,ENST00000412007,;	202	29	18	SUCCESS
SAMD9	54809	.	GRCh37	7	92730537	92730537	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	16	0	ENST00000379958.2:c.*104A>G			ENST00000379958	NM_017654.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34680.1	.	MUTECT|MUSE	.	AGAGCTAGAGG	NONE	.	.	.	.	.	ENSP00000369292	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379958	Transcript	.	.	ENSG00000205413	1348	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAMD9_HUMAN	SAMD9	HGNC	C9JKF1_HUMAN	.	UPI0000038BC6	SNV	SAMD9,3_prime_UTR_variant,,ENST00000379958,;SAMD9,downstream_gene_variant,,ENST00000446617,;	5144	16	27	SUCCESS
CXorf30	0	.	GRCh37	X	36403421	36403421	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEA-01	TCGA-DD-AAEA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	8	0	ENST00000378657.4:c.*300A>G			ENST00000378657	NM_001098843.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55396.1	.	MUTECT|MUSE|VARSCANS	.	GCTAAATGTCT	NONE	.	.	.	.	.	ENSP00000367926	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000378657	Transcript	.	.	ENSG00000205081	27298	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CX030_HUMAN	CXorf30	HGNC	.	.	UPI0001642840	SNV	CXorf30,3_prime_UTR_variant,,ENST00000378657,;CXorf30,downstream_gene_variant,,ENST00000378653,;RP11-87M18.2,intron_variant,,ENST00000455438,;	2850	8	15	SUCCESS
AVPI1	60370	.	GRCh37	10	99437618	99437618	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	49	0	ENST00000370626.3:c.*8A>T			ENST00000370626	NM_021732.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7470.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCTTTCCCTG	NONE	.	.	.	.	.	ENSP00000359660	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000370626	Transcript	.	.	ENSG00000119986	30898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVPI1_HUMAN	AVPI1	HGNC	.	.	UPI000013CA70	SNV	AVPI1,3_prime_UTR_variant,,ENST00000370626,;PI4K2A,downstream_gene_variant,,ENST00000370649,;PI4K2A,downstream_gene_variant,,ENST00000555577,;PI4K2A,downstream_gene_variant,,ENST00000370631,;	1020	49	57	SUCCESS
EIF4G2	1982	.	GRCh37	11	10819234	10819234	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	24	0	ENST00000526148.1:c.*129T>G			ENST00000526148	NM_001172705.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31428.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTAACTGAC	NONE	.	.	.	.	.	ENSP00000433664	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000526148	Transcript	.	.	ENSG00000110321	3297	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	EIF4G2	HGNC	Q59G42_HUMAN,Q2TU89_HUMAN,H0YEN8_HUMAN,H0YEC5_HUMAN,H0YDC0_HUMAN,H0YD99_HUMAN,H0YD77_HUMAN,H0YCF8_HUMAN,D3DQV9_HUMAN,B4DZF2_HUMAN	.	UPI000013C8BE	SNV	EIF4G2,3_prime_UTR_variant,,ENST00000396525,;EIF4G2,3_prime_UTR_variant,,ENST00000339995,;EIF4G2,3_prime_UTR_variant,,ENST00000525681,;EIF4G2,3_prime_UTR_variant,,ENST00000526148,;EIF4G2,downstream_gene_variant,,ENST00000528839,;EIF4G2,downstream_gene_variant,,ENST00000531416,;EIF4G2,downstream_gene_variant,,ENST00000531180,;SNORD97,downstream_gene_variant,,ENST00000459187,;RP11-685M7.5,intron_variant,,ENST00000532365,;EIF4G2,downstream_gene_variant,,ENST00000532120,;EIF4G2,downstream_gene_variant,,ENST00000534272,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000532383,;EIF4G2,downstream_gene_variant,,ENST00000530564,;EIF4G2,downstream_gene_variant,,ENST00000531647,;EIF4G2,downstream_gene_variant,,ENST00000534470,;EIF4G2,downstream_gene_variant,,ENST00000525606,;	3364	24	15	SUCCESS
OR5AL1	79482	.	GRCh37	11	56185036	56185036	+	downstream_gene_variant	3'Flank	SNP	T	T	C	rs764254519	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	95	64	142	0				ENST00000440231		225		0	.	.	.	.	.	C	I/V	protein_coding	YES	CCDS31530.1	673	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGGATAGCGG	NONE	.	.	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	.	.	ENSP00000308595	.	1/1	.	.	.	.	.	.	.	.	rs764254519	1/1	PASS	ENST00000312253	Transcript	.	.	ENSG00000174942	14841	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.036)	.	deleterious(0.02)	.	OR5R1_HUMAN	OR5R1	HGNC	.	.	UPI000004B225	SNV	OR5R1,missense_variant,p.Ile225Val,ENST00000312253,;OR5AL1,downstream_gene_variant,,ENST00000327258,;OR5AL1,downstream_gene_variant,,ENST00000440231,;	673	142	160	SUCCESS
TMX2	51075	.	GRCh37	11	57507768	57507768	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs772831718	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	37	0	ENST00000278422.4:c.*51A>G			ENST00000278422	NM_015959.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7967.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCATAACC	NONE	byFrequency	.	.	.	.	ENSP00000278422	.	8/8	.	.	.	.	.	.	.	.	rs772831718	8/8	PASS	ENST00000278422	Transcript	.	.	ENSG00000213593	30739	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMX2_HUMAN	TMX2	HGNC	.	.	UPI0000048EB5	SNV	TMX2,3_prime_UTR_variant,,ENST00000378312,;TMX2,3_prime_UTR_variant,,ENST00000278422,;BTBD18,downstream_gene_variant,,ENST00000436147,;C11orf31,upstream_gene_variant,,ENST00000528798,;C11orf31,upstream_gene_variant,,ENST00000534355,;BTBD18,downstream_gene_variant,,ENST00000422652,;C11orf31,upstream_gene_variant,,ENST00000388857,;TMX2,3_prime_UTR_variant,,ENST00000528110,;TMX2,3_prime_UTR_variant,,ENST00000530114,;TMX2,3_prime_UTR_variant,,ENST00000529403,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,upstream_gene_variant,,ENST00000531074,;TMX2,downstream_gene_variant,,ENST00000525035,;C11orf31,upstream_gene_variant,,ENST00000533321,;C11orf31,upstream_gene_variant,,ENST00000534386,;TMX2,downstream_gene_variant,,ENST00000528042,;TMX2,downstream_gene_variant,,ENST00000524972,;TMX2,downstream_gene_variant,,ENST00000533602,;	954	37	36	SUCCESS
ATXN7L3B	552889	.	GRCh37	12	74933919	74933919	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	39	0	ENST00000519948.2:c.*1733C>G			ENST00000519948	NM_001136262.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53815.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGCTCCCT	NONE	.	.	.	.	.	ENSP00000430000	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000519948	Transcript	.	.	ENSG00000253719	37931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A7L3B_HUMAN	ATXN7L3B	HGNC	.	.	UPI00001FC7BD	SNV	ATXN7L3B,3_prime_UTR_variant,,ENST00000519948,;RP11-56G10.2,upstream_gene_variant,,ENST00000550926,;	2369	39	53	SUCCESS
TRIM13	10206	.	GRCh37	13	50588307	50588307	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	39	87	0	ENST00000378182.3:c.*1007A>G			ENST00000378182	NM_213590.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41888.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTTAAAAAA	NONE	.	991	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,3_prime_UTR_variant,,ENST00000420995,;TRIM13,3_prime_UTR_variant,,ENST00000378182,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,downstream_gene_variant,,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	87	95	SUCCESS
HAGH	3029	.	GRCh37	16	1859212	1859212	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	7	44	0	ENST00000397356.3:c.*72C>G			ENST00000397356	NM_005326.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10447.2	.	RADIA|MUTECT|MUSE	.	TTCCCGCACGG	NONE	.	.	.	.	.	ENSP00000380514	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000397356	Transcript	.	.	ENSG00000063854	4805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GLO2_HUMAN	HAGH	HGNC	H3BV79_HUMAN,H3BQW8_HUMAN,B4DT01_HUMAN	.	UPI00001FFAD0	SNV	HAGH,3_prime_UTR_variant,,ENST00000397356,;HAGH,3_prime_UTR_variant,,ENST00000566709,;HAGH,3_prime_UTR_variant,,ENST00000397353,;HAGH,3_prime_UTR_variant,,ENST00000455446,;HAGH,intron_variant,,ENST00000566644,;HAGH,intron_variant,,ENST00000564445,;HAGH,non_coding_transcript_exon_variant,,ENST00000567398,;	1406	44	41	SUCCESS
FAM86A	0	.	GRCh37	16	5135558	5135558	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	31	76	0	ENST00000427587.4:c.*75G>A			ENST00000427587	NM_201400.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10529.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATCCGCTT	NONE	.	.	.	.	.	ENSP00000398502	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000427587	Transcript	.	.	ENSG00000118894	32221	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA86A_HUMAN	FAM86A	HGNC	.	.	UPI000013D29B	SNV	FAM86A,3_prime_UTR_variant,,ENST00000458008,;FAM86A,3_prime_UTR_variant,,ENST00000427587,;FAM86A,downstream_gene_variant,,ENST00000587133,;ALG1,downstream_gene_variant,,ENST00000544428,;ALG1,downstream_gene_variant,,ENST00000262374,;ALG1,downstream_gene_variant,,ENST00000588623,;ALG1,non_coding_transcript_exon_variant,,ENST00000592661,;FAM86A,3_prime_UTR_variant,,ENST00000585436,;FAM86A,3_prime_UTR_variant,,ENST00000587161,;FAM86A,non_coding_transcript_exon_variant,,ENST00000587608,;FAM86A,downstream_gene_variant,,ENST00000587200,;FAM86A,downstream_gene_variant,,ENST00000585975,;ALG1,downstream_gene_variant,,ENST00000591822,;FAM86A,downstream_gene_variant,,ENST00000586444,;	1137	76	85	SUCCESS
CPD	1362	.	GRCh37	17	28791960	28791960	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	13	0	ENST00000225719.4:c.*128A>G			ENST00000225719	NM_001304.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11257.1	.	MUTECT|MUSE	.	GCTAAATTTGT	NONE	.	.	.	.	.	ENSP00000225719	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000225719	Transcript	.	.	ENSG00000108582	2301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBPD_HUMAN	CPD	HGNC	.	.	UPI000000DAF7	SNV	CPD,3_prime_UTR_variant,,ENST00000543464,;CPD,3_prime_UTR_variant,,ENST00000225719,;CPD,intron_variant,,ENST00000584221,;CPD,downstream_gene_variant,,ENST00000584051,;CPD,3_prime_UTR_variant,,ENST00000579502,;	4347	13	20	SUCCESS
C18orf21	83608	.	GRCh37	18	33559161	33559161	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	29	0	ENST00000592875.1:c.*197del			ENST00000592875	NM_031446.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11916.2	.	INDELOCATOR*|PINDEL	.	AGGATCAAAAAA	NONE	.	.	.	.	.	ENSP00000465517	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000592875	Transcript	.	.	ENSG00000141428	28802	5	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CR021_HUMAN	C18orf21	HGNC	L7N2F3_HUMAN,K7EM84_HUMAN	.	UPI000059D50B	deletion	C18orf21,3_prime_UTR_variant,,ENST00000333234,;C18orf21,3_prime_UTR_variant,,ENST00000592875,;C18orf21,downstream_gene_variant,,ENST00000587873,;C18orf21,downstream_gene_variant,,ENST00000269194,;	1501	29	36	SUCCESS
ZNF526	116115	.	GRCh37	19	42731490	42731490	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	44	97	0	ENST00000301215.3:c.*922T>G			ENST00000301215	NM_133444.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12598.1	.	RADIA|MUTECT|MUSE	.	GTGTATTTGGA	NONE	.	.	.	.	.	ENSP00000301215	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301215	Transcript	.	.	ENSG00000167625	29415	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN526_HUMAN	ZNF526	HGNC	M0R395_HUMAN,H9ZYJ3_HUMAN	.	UPI00001C2011	SNV	ZNF526,3_prime_UTR_variant,,ENST00000301215,;GSK3A,downstream_gene_variant,,ENST00000398249,;GSK3A,downstream_gene_variant,,ENST00000222330,;ZNF526,downstream_gene_variant,,ENST00000597945,;GSK3A,downstream_gene_variant,,ENST00000493059,;GSK3A,downstream_gene_variant,,ENST00000453535,;	3160	97	110	SUCCESS
ZNF526	116115	.	GRCh37	19	42731506	42731506	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	45	104	0	ENST00000301215.3:c.*938T>G			ENST00000301215	NM_133444.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12598.1	.	RADIA|MUTECT|MUSE	.	TCCAGTTATTC	NONE	.	.	.	.	.	ENSP00000301215	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301215	Transcript	.	.	ENSG00000167625	29415	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN526_HUMAN	ZNF526	HGNC	M0R395_HUMAN,H9ZYJ3_HUMAN	.	UPI00001C2011	SNV	ZNF526,3_prime_UTR_variant,,ENST00000301215,;GSK3A,downstream_gene_variant,,ENST00000398249,;GSK3A,downstream_gene_variant,,ENST00000222330,;ZNF526,downstream_gene_variant,,ENST00000597945,;GSK3A,downstream_gene_variant,,ENST00000493059,;GSK3A,downstream_gene_variant,,ENST00000453535,;	3176	104	113	SUCCESS
RP11-458D21.5	0	.	GRCh37	1	145209119	145209119	+	upstream_gene_variant	5'Flank	SNP	G	G	C	rs782215839	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	21	0				ENST00000468030				0	.	.	.	.	.	C	.	nonsense_mediated_decay	YES	.	.	MUTECT|MUSE	.	GCTTCGCTGCA	NONE	byFrequency	26	.	.	.	ENSP00000457682	.	.	.	.	.	.	.	.	.	.	rs782215839	.	PASS	ENST00000468030	Transcript	.	.	ENSG00000255168	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-458D21.5	Clone_based_vega_gene	E9PLD5_HUMAN	.	UPI0001F78571	SNV	NOTCH2NL,5_prime_UTR_variant,,ENST00000362074,;NOTCH2NL,5_prime_UTR_variant,,ENST00000344859,;RP11-458D21.5,upstream_gene_variant,,ENST00000468030,;	.	21	30	SUCCESS
H1F0	0	.	GRCh37	22	38202326	38202326	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs188218991	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	44	0	ENST00000340857.2:c.*190A>G			ENST00000340857	NM_005318.3			0	.	G:0.0068	.	G:0	.	G	.	protein_coding	YES	CCDS13956.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGACAGCAAC	NONE	byFrequency|byCluster|by1000G	.	.	G:0	.	ENSP00000344504	G:0	1/1	.	.	.	.	.	.	.	.	rs188218991	1/1	PASS	ENST00000340857	Transcript	.	G:0.0018	ENSG00000189060	4714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	H10_HUMAN	H1F0	HGNC	.	.	UPI0000161F7B	SNV	H1F0,3_prime_UTR_variant,,ENST00000340857,;GCAT,upstream_gene_variant,,ENST00000451984,;GCAT,upstream_gene_variant,,ENST00000445195,;GCAT,upstream_gene_variant,,ENST00000248924,;GCAT,upstream_gene_variant,,ENST00000323205,;GCAT,upstream_gene_variant,,ENST00000415371,;GCAT,upstream_gene_variant,,ENST00000426858,;GCAT,upstream_gene_variant,,ENST00000478203,;	1213	44	43	SUCCESS
NEUROD1	4760	.	GRCh37	2	182542334	182542334	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	9	0	ENST00000295108.3:c.*183T>C			ENST00000295108	NM_002500.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2283.1	.	MUTECT|MUSE	.	AGGTGAACAGG	NONE	.	.	.	.	.	ENSP00000295108	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295108	Transcript	.	.	ENSG00000162992	7762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDF1_HUMAN	NEUROD1	HGNC	.	.	UPI000013E207	SNV	NEUROD1,3_prime_UTR_variant,,ENST00000295108,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;CERKL,intron_variant,,ENST00000479558,;	1712	9	12	SUCCESS
ATL2	64225	.	GRCh37	2	38523047	38523047	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs961910542	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	24	0	ENST00000378954.4:c.*89A>G			ENST00000378954	NM_001135673.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46260.1	.	MUTECT|MUSE	.	GTTGATTGTAA	NONE	.	.	.	.	.	ENSP00000368237	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000378954	Transcript	.	.	ENSG00000119787	24047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATLA2_HUMAN	ATL2	HGNC	B7ZA64_HUMAN	.	UPI00001B00A2	SNV	ATL2,3_prime_UTR_variant,,ENST00000332337,;ATL2,3_prime_UTR_variant,,ENST00000419554,;ATL2,3_prime_UTR_variant,,ENST00000539122,;ATL2,3_prime_UTR_variant,,ENST00000402054,;ATL2,3_prime_UTR_variant,,ENST00000406122,;ATL2,3_prime_UTR_variant,,ENST00000378954,;ATL2,downstream_gene_variant,,ENST00000452935,;ATL2,downstream_gene_variant,,ENST00000546051,;ATL2,3_prime_UTR_variant,,ENST00000405384,;ATL2,downstream_gene_variant,,ENST00000489896,;ATL2,downstream_gene_variant,,ENST00000477642,;	1843	24	21	SUCCESS
SOX11	6664	.	GRCh37	2	5838662	5838662	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	98	76	172	2	ENST00000322002.3:c.*4483C>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACACTCTGATA	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	5864	174	174	SUCCESS
C2orf68	388969	.	GRCh37	2	85843290	85843290	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	35	74	1				ENST00000306336	NM_001013649.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33234.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGCCTGCGCT	NONE	.	19	.	.	.	ENSP00000312981	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000323701	Transcript	.	.	ENSG00000168883	20071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNUT2_HUMAN	USP39	HGNC	B3KPG7_HUMAN	.	UPI000003771A	SNV	USP39,5_prime_UTR_variant,,ENST00000409025,;USP39,intron_variant,,ENST00000448971,;USP39,intron_variant,,ENST00000442708,;USP39,intron_variant,,ENST00000450066,;C2orf68,upstream_gene_variant,,ENST00000306336,;C2orf68,upstream_gene_variant,,ENST00000409734,;USP39,upstream_gene_variant,,ENST00000323701,;USP39,upstream_gene_variant,,ENST00000409766,;USP39,upstream_gene_variant,,ENST00000409470,;USP39,non_coding_transcript_exon_variant,,ENST00000455732,;USP39,intron_variant,,ENST00000465282,;USP39,intron_variant,,ENST00000459775,;USP39,intron_variant,,ENST00000474572,;USP39,intron_variant,,ENST00000491659,;C2orf68,upstream_gene_variant,,ENST00000478626,;C2orf68,upstream_gene_variant,,ENST00000420686,;USP39,upstream_gene_variant,,ENST00000458268,;C2orf68,upstream_gene_variant,,ENST00000423181,;USP39,upstream_gene_variant,,ENST00000493829,;	.	75	91	SUCCESS
PYURF	100996939	.	GRCh37	4	89442984	89442984	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	50	125	0	ENST00000273968.4:c.*55del			ENST00000273968	NM_001042616.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3631.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAGGTATATGGT	NONE	.	.	.	.	.	ENSP00000273968	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000273968	Transcript	.	.	ENSG00000145337	44317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PREY_HUMAN	PYURF	HGNC	.	.	UPI0000070EC8	deletion	PYURF,3_prime_UTR_variant,,ENST00000273968,;HERC3,upstream_gene_variant,,ENST00000513325,;PIGY,upstream_gene_variant,,ENST00000527353,;HERC3,non_coding_transcript_exon_variant,,ENST00000601319,;HERC3,upstream_gene_variant,,ENST00000597259,;HERC3,upstream_gene_variant,,ENST00000598772,;	513	125	183	SUCCESS
MAN2A1	4124	.	GRCh37	5	109202800	109202800	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	38	126	0	ENST00000261483.4:c.*101A>G			ENST00000261483	NM_002372.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34209.1	.	RADIA|MUTECT|MUSE	.	CTGTGAGAACA	NONE	.	.	.	.	.	ENSP00000261483	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,3_prime_UTR_variant,,ENST00000261483,;MAN2A1,downstream_gene_variant,,ENST00000505313,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000503970,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000513921,;	4588	126	120	SUCCESS
MAN2A1	4124	.	GRCh37	5	109202808	109202808	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	34	117	0	ENST00000261483.4:c.*109A>C			ENST00000261483	NM_002372.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34209.1	.	MUTECT|MUSE	.	ACATGAATTCT	NONE	.	.	.	.	.	ENSP00000261483	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000261483	Transcript	.	.	ENSG00000112893	6824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MA2A1_HUMAN	MAN2A1	HGNC	Q49A69_HUMAN	.	UPI000013D193	SNV	MAN2A1,3_prime_UTR_variant,,ENST00000261483,;MAN2A1,downstream_gene_variant,,ENST00000505313,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000503970,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000513921,;	4596	117	110	SUCCESS
PCDHB12	56124	.	GRCh37	5	140591643	140591643	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	246	33	226	0	ENST00000239450.2:c.*776T>C			ENST00000239450	NM_018932.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4254.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TATTATTACTA	NONE	.	.	.	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,3_prime_UTR_variant,,ENST00000239450,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	3353	226	279	SUCCESS
SLU7	10569	.	GRCh37	5	159830119	159830119	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	17	0	ENST00000297151.4:c.*173A>C			ENST00000297151	NM_006425.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4352.1	.	RADIA|MUTECT|MUSE	.	CTTCTTTTCTT	NONE	.	.	.	.	.	ENSP00000297151	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000297151	Transcript	.	.	ENSG00000164609	16939	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SLU7_HUMAN	SLU7	HGNC	E5RK41_HUMAN,E5RGM7_HUMAN	.	UPI000013E3CE	SNV	SLU7,3_prime_UTR_variant,,ENST00000297151,;C5orf54,upstream_gene_variant,,ENST00000408953,;C5orf54,upstream_gene_variant,,ENST00000523213,;SLU7,downstream_gene_variant,,ENST00000521320,;SLU7,downstream_gene_variant,,ENST00000520841,;SLU7,downstream_gene_variant,,ENST00000523219,;	2322	17	13	SUCCESS
IL6ST	3572	.	GRCh37	5	55236872	55236872	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	52	118	0	ENST00000336909.5:c.*38A>G			ENST00000336909				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3971.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATAGGTA	NONE	.	.	.	.	.	ENSP00000370698	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000381298	Transcript	.	.	ENSG00000134352	6021	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL6RB_HUMAN	IL6ST	HGNC	.	.	UPI000013CF29	SNV	IL6ST,3_prime_UTR_variant,,ENST00000381287,;IL6ST,3_prime_UTR_variant,,ENST00000336909,;IL6ST,3_prime_UTR_variant,,ENST00000381298,;IL6ST,3_prime_UTR_variant,,ENST00000502326,;IL6ST,downstream_gene_variant,,ENST00000381293,;IL6ST,downstream_gene_variant,,ENST00000536319,;IL6ST,downstream_gene_variant,,ENST00000381294,;IL6ST,downstream_gene_variant,,ENST00000381286,;CTD-2031P19.5,splice_region_variant,,ENST00000576302,;IL6ST,3_prime_UTR_variant,,ENST00000503773,;IL6ST,downstream_gene_variant,,ENST00000583149,;IL6ST,downstream_gene_variant,,ENST00000523039,;CTD-2031P19.4,upstream_gene_variant,,ENST00000582508,;CTD-2031P19.4,upstream_gene_variant,,ENST00000597044,;	3108	118	128	SUCCESS
FAM184A	79632	.	GRCh37	6	119281093	119281093	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	11	0	ENST00000338891.7:c.*175T>G			ENST00000338891	NM_024581.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43499.1	.	MUTECT|MUSE	.	ATAGTACCTTA	NONE	.	.	.	.	.	ENSP00000342604	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000338891	Transcript	.	.	ENSG00000111879	20991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F184A_HUMAN	FAM184A	HGNC	.	.	UPI0000470B36	SNV	FAM184A,3_prime_UTR_variant,,ENST00000521043,;FAM184A,3_prime_UTR_variant,,ENST00000517987,;FAM184A,3_prime_UTR_variant,,ENST00000368475,;FAM184A,3_prime_UTR_variant,,ENST00000352896,;FAM184A,3_prime_UTR_variant,,ENST00000338891,;FAM184A,3_prime_UTR_variant,,ENST00000368472,;FAM184A,3_prime_UTR_variant,,ENST00000481884,;FAM184A,downstream_gene_variant,,ENST00000521531,;RP11-351A11.1,intron_variant,,ENST00000518570,;FAM184A,3_prime_UTR_variant,,ENST00000475529,;FAM184A,non_coding_transcript_exon_variant,,ENST00000482219,;	4042	11	17	SUCCESS
MOGAT3	346606	.	GRCh37	7	100839188	100839188	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1173685660	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	23	0	ENST00000223114.4:c.*39G>A			ENST00000223114	NM_178176.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5714.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCCTTGG	NONE	.	.	.	.	.	ENSP00000223114	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000223114	Transcript	.	.	ENSG00000106384	23249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOGT3_HUMAN	MOGAT3	HGNC	.	.	UPI00000622D1	SNV	MOGAT3,3_prime_UTR_variant,,ENST00000223114,;MOGAT3,3_prime_UTR_variant,,ENST00000379423,;MOGAT3,3_prime_UTR_variant,,ENST00000440203,;	1232	23	39	SUCCESS
KCND2	3751	.	GRCh37	7	120388068	120388068	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	15	15	0	ENST00000331113.4:c.*156T>A			ENST00000331113	NM_012281.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5776.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAATAAAAC	NONE	.	.	.	.	.	ENSP00000333496	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000331113	Transcript	.	.	ENSG00000184408	6238	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCND2_HUMAN	KCND2	HGNC	A4D0V9_HUMAN,Q75LS7_HUMAN	.	UPI0000073D37	SNV	KCND2,3_prime_UTR_variant,,ENST00000331113,;KCND2,downstream_gene_variant,,ENST00000425288,;RP4-797C5.2,intron_variant,,ENST00000450480,;KCND2,downstream_gene_variant,,ENST00000473190,;	3014	15	25	SUCCESS
NCALD	83988	.	GRCh37	8	102701442	102701442	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1019163340	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	25	0	ENST00000220931.6:c.*95A>G			ENST00000220931	NM_032041.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6292.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CACCATTGATA	NONE	.	.	.	.	.	ENSP00000379256	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395923	Transcript	.	.	ENSG00000104490	7655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NCALD_HUMAN	NCALD	HGNC	E5RK89_HUMAN,E5RJT1_HUMAN,E5RJJ6_HUMAN,E5RIZ1_HUMAN,E5RIX3_HUMAN,E5RIG4_HUMAN,E5RI95_HUMAN,E5RI78_HUMAN,E5RHE8_HUMAN,E5RHC8_HUMAN,E5RGZ0_HUMAN,E5RFL9_HUMAN,B2RB70_HUMAN	.	UPI0000004090	SNV	NCALD,3_prime_UTR_variant,,ENST00000311028,;NCALD,3_prime_UTR_variant,,ENST00000521599,;NCALD,3_prime_UTR_variant,,ENST00000519508,;NCALD,3_prime_UTR_variant,,ENST00000220931,;NCALD,3_prime_UTR_variant,,ENST00000395923,;NCALD,intron_variant,,ENST00000522448,;NCALD,intron_variant,,ENST00000522951,;NCALD,downstream_gene_variant,,ENST00000520690,;KB-1107E3.1,downstream_gene_variant,,ENST00000518749,;NCALD,non_coding_transcript_exon_variant,,ENST00000522754,;	1137	25	43	SUCCESS
CCDC171	203238	.	GRCh37	9	15971871	15971871	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs752494328	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	78	0	ENST00000380701.3:c.*37T>C			ENST00000380701	NM_173550.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6481.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACAGTACAAT	NONE	.	.	.	.	.	ENSP00000370077	.	26/26	.	.	.	.	.	.	.	.	rs752494328	26/26	PASS	ENST00000380701	Transcript	.	.	ENSG00000164989	29828	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC171_HUMAN	CCDC171	HGNC	Q8NCV3_HUMAN	.	UPI000021C44B	SNV	CCDC171,3_prime_UTR_variant,,ENST00000380701,;CCDC171,non_coding_transcript_exon_variant,,ENST00000470191,;CCDC171,intron_variant,,ENST00000486641,;CCDC171,downstream_gene_variant,,ENST00000498725,;	4346	78	67	SUCCESS
C9orf47	1903	.	GRCh37	9	91610570	91610570	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEB-01	TCGA-DD-AAEB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	56	122	0	ENST00000334490.5:c.*3667G>T			ENST00000334490				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35062.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGGGGTCT	NONE	.	.	.	.	.	ENSP00000335616	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334490	Transcript	.	.	ENSG00000186354	23669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI047_HUMAN	C9orf47	HGNC	.	.	UPI00001C0EE0	SNV	C9orf47,3_prime_UTR_variant,,ENST00000334490,;C9orf47,3_prime_UTR_variant,,ENST00000375851,;S1PR3,intron_variant,,ENST00000358157,;C9orf47,downstream_gene_variant,,ENST00000375850,;S1PR3,upstream_gene_variant,,ENST00000375846,;	4344	122	166	SUCCESS
NANOS1	340719	.	GRCh37	10	120791755	120791755	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	29	79	0	ENST00000425699.1:c.*1563T>C			ENST00000425699	NM_199461.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7607.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTGAAGG	NONE	.	.	.	.	.	ENSP00000393275	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000425699	Transcript	1	.	ENSG00000188613	23044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NANO1_HUMAN	NANOS1	HGNC	Q5T9H5_HUMAN	.	UPI00001D68E9	SNV	NANOS1,3_prime_UTR_variant,,ENST00000425699,;EIF3A,downstream_gene_variant,,ENST00000541549,;NANOS1,downstream_gene_variant,,ENST00000340087,;EIF3A,downstream_gene_variant,,ENST00000369144,;	2528	79	69	SUCCESS
MUC19	283463	.	GRCh37	12	40918840	40918840	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	9	0	ENST00000454784.4:c.*5783-17524C>A			ENST00000454784				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	CTCCTCTTCTT	NONE	.	.	.	.	.	ENSP00000476404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	49/83	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,intron_variant,,ENST00000454784,;MUC19,upstream_gene_variant,,ENST00000424466,;MUC19,non_coding_transcript_exon_variant,,ENST00000474954,;MUC19,downstream_gene_variant,,ENST00000398702,;	.	9	17	SUCCESS
SIAH1	6477	.	GRCh37	16	48399361	48399361	+	upstream_gene_variant	5'Flank	SNP	G	G	C	rs74017934	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	20	38	0				ENST00000380006		10		0	C:0.02	C:0.0242	.	C:0.0014	.	C	L/V	protein_coding	YES	CCDS32444.1	28	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAGAGAAG	NONE	byFrequency|byCluster|by1000G	.	hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23	C:0	C:0.0001	ENSP00000349156	C:0	1/2	.	.	.	.	.	.	.	.	rs769446669,rs74017934	1/2	common_in_exac	ENST00000356721	Transcript	.	C:0.0066	ENSG00000196470	10857	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	unknown(0)	C:0	tolerated_low_confidence(0.35)	.	SIAH1_HUMAN	SIAH1	HGNC	H3BU09_HUMAN	.	UPI0000074729	SNV	SIAH1,missense_variant,p.Leu10Val,ENST00000356721,;SIAH1,intron_variant,,ENST00000394725,;SIAH1,intron_variant,,ENST00000563745,;SIAH1,upstream_gene_variant,,ENST00000380006,;LONP2,downstream_gene_variant,,ENST00000565867,;SIAH1,non_coding_transcript_exon_variant,,ENST00000573005,;SIAH1,upstream_gene_variant,,ENST00000565620,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,intron_variant,,ENST00000568007,;LONP2,downstream_gene_variant,,ENST00000565185,;LONP2,downstream_gene_variant,,ENST00000566719,;	452	38	31	SUCCESS
MYH10	4628	.	GRCh37	17	8379003	8379003	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	15	24	0	ENST00000269243.4:c.*119T>G			ENST00000269243	NM_005964.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58515.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTTAAGACAC	NONE	.	.	.	.	.	ENSP00000353590	.	43/43	.	.	.	.	.	.	.	.	.	43/43	PASS	ENST00000360416	Transcript	.	.	ENSG00000133026	7568	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYH10_HUMAN	MYH10	HGNC	Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN	.	UPI0000E24926	SNV	MYH10,3_prime_UTR_variant,,ENST00000396239,;MYH10,3_prime_UTR_variant,,ENST00000269243,;MYH10,3_prime_UTR_variant,,ENST00000379980,;MYH10,3_prime_UTR_variant,,ENST00000360416,;NDEL1,intron_variant,,ENST00000299734,;NDEL1,intron_variant,,ENST00000581679,;MYH10,downstream_gene_variant,,ENST00000476737,;	6282	24	17	SUCCESS
PTBP1	5725	.	GRCh37	19	810971	810971	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	9	0	ENST00000349038.4:c.*145A>T			ENST00000349038	NM_031991.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42456.1	.	MUTECT|MUSE	.	AAAAAATTAAA	NONE	.	.	.	.	.	ENSP00000349428	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000356948	Transcript	.	.	ENSG00000011304	9583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTBP1_HUMAN	PTBP1	HGNC	.	.	UPI00000720B7	SNV	PTBP1,3_prime_UTR_variant,,ENST00000349038,;PTBP1,3_prime_UTR_variant,,ENST00000394601,;PTBP1,3_prime_UTR_variant,,ENST00000356948,;PTBP1,3_prime_UTR_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000585956,;LPPR3,downstream_gene_variant,,ENST00000519502,;LPPR3,downstream_gene_variant,,ENST00000517665,;LPPR3,downstream_gene_variant,,ENST00000359894,;LPPR3,downstream_gene_variant,,ENST00000520876,;MIR3187,upstream_gene_variant,,ENST00000583431,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000585932,;PTBP1,downstream_gene_variant,,ENST00000589569,;PTBP1,downstream_gene_variant,,ENST00000589883,;PTBP1,downstream_gene_variant,,ENST00000587191,;PTBP1,downstream_gene_variant,,ENST00000592804,;PTBP1,downstream_gene_variant,,ENST00000589770,;PTBP1,downstream_gene_variant,,ENST00000587136,;	2242	9	10	SUCCESS
LCE4A	199834	.	GRCh37	1	152681888	152681888	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs141892122	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	40	97	0	ENST00000335535.3:c.*37G>C			ENST00000335535	NM_178356.2			0	A:0.0021	A:0.003	.	A:0	.	C	.	protein_coding	YES	CCDS1022.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGAAGGA	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000357766	A:0	2/2	.	.	.	.	.	.	.	.	rs141892122	2/2	PASS	ENST00000368777	Transcript	.	A:0.0008	ENSG00000187170	16613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	LCE4A_HUMAN	LCE4A	HGNC	.	.	UPI0000192763	SNV	LCE4A,3_prime_UTR_variant,,ENST00000368777,;LCE4A,3_prime_UTR_variant,,ENST00000335535,;	593	97	97	SUCCESS
CD46	4179	.	GRCh37	1	207967082	207967082	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1029210659	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	67	55	0	ENST00000358170.2:c.*260A>T			ENST00000358170	NM_002389.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1482.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGATGCTT	NONE	.	.	.	.	.	ENSP00000313875	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000322875	Transcript	.	.	ENSG00000117335	6953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MCP_HUMAN	CD46	HGNC	Q06C42_HUMAN	.	UPI000015FF6E	SNV	CD46,3_prime_UTR_variant,,ENST00000360212,;CD46,3_prime_UTR_variant,,ENST00000441839,;CD46,3_prime_UTR_variant,,ENST00000322918,;CD46,3_prime_UTR_variant,,ENST00000358170,;CD46,3_prime_UTR_variant,,ENST00000354848,;CD46,3_prime_UTR_variant,,ENST00000367042,;CD46,3_prime_UTR_variant,,ENST00000357714,;CD46,3_prime_UTR_variant,,ENST00000367047,;CD46,3_prime_UTR_variant,,ENST00000361067,;CD46,3_prime_UTR_variant,,ENST00000367041,;CD46,3_prime_UTR_variant,,ENST00000322875,;CD46,intron_variant,,ENST00000462968,;CD46,downstream_gene_variant,,ENST00000480003,;CD46,non_coding_transcript_exon_variant,,ENST00000488596,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;	1502	55	97	SUCCESS
ZBTB18	10472	.	GRCh37	1	244220409	244220410	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs985992888	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	177	55	120	0	ENST00000358704.4:c.*1744dup			ENST00000358704	NM_205768.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1622.1	.	INDELOCATOR|VARSCANI	.	ACAAACAAAAA	NONE	.	.	.	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	insertion	ZBTB18,3_prime_UTR_variant,,ENST00000358704,;	3482-3483	120	232	SUCCESS
PTMA	5757	.	GRCh37	2	232577602	232577602	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs758287487	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	4	51	1	ENST00000341369.7:c.*41G>A			ENST00000341369	NM_001099285.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42833.1	.	MUTECT|MUSE	.	AGGCCGCCGTG	NONE	byFrequency	.	.	.	.	ENSP00000344547	.	5/5	.	.	.	.	.	.	.	.	rs758287487	5/5	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,3_prime_UTR_variant,,ENST00000341369,;PTMA,3_prime_UTR_variant,,ENST00000412128,;PTMA,3_prime_UTR_variant,,ENST00000409115,;PTMA,3_prime_UTR_variant,,ENST00000409321,;PTMA,3_prime_UTR_variant,,ENST00000409683,;PTMA,downstream_gene_variant,,ENST00000410064,;PTMA,downstream_gene_variant,,ENST00000440384,;PTMA,non_coding_transcript_exon_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;	568	52	46	SUCCESS
XRN1	54464	.	GRCh37	3	142030272	142030272	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	24	38	0	ENST00000264951.4:c.*81A>G			ENST00000264951	NM_019001.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3123.1	.	MUTECT|MUSE	.	CATTCTAATTT	NONE	.	.	.	.	.	ENSP00000264951	.	42/42	.	.	.	.	.	.	.	.	.	42/42	PASS	ENST00000264951	Transcript	.	.	ENSG00000114127	30654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XRN1_HUMAN	XRN1	HGNC	C9JCZ8_HUMAN	.	UPI0000074113	SNV	XRN1,3_prime_UTR_variant,,ENST00000498077,;XRN1,3_prime_UTR_variant,,ENST00000392981,;XRN1,3_prime_UTR_variant,,ENST00000264951,;	5320	39	61	SUCCESS
GPR160	26996	.	GRCh37	3	169802846	169802846	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	257	195	356	0	ENST00000355897.5:c.*69T>A			ENST00000355897	NM_014373.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3211.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATATTAAAA	NONE	.	.	.	.	.	ENSP00000348161	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000355897	Transcript	.	.	ENSG00000173890	23693	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GP160_HUMAN	GPR160	HGNC	C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN	.	UPI0000033731	SNV	GPR160,3_prime_UTR_variant,,ENST00000355897,;GPR160,downstream_gene_variant,,ENST00000473675,;PHC3,downstream_gene_variant,,ENST00000484068,;GPR160,downstream_gene_variant,,ENST00000482710,;GPR160,downstream_gene_variant,,ENST00000492492,;GPR160,downstream_gene_variant,,ENST00000485735,;PHC3,downstream_gene_variant,,ENST00000495893,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;	1694	356	452	SUCCESS
FEZF2	55079	.	GRCh37	3	62355596	62355596	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	10	0	ENST00000283268.3:c.*162G>A			ENST00000283268	NM_018008.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2897.1	.	MUTECT|MUSE	.	CCAGTCATCGA	NONE	.	.	.	.	.	ENSP00000283268	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000283268	Transcript	.	.	ENSG00000153266	13506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FEZF2_HUMAN	FEZF2	HGNC	.	.	UPI0000071A13	SNV	FEZF2,3_prime_UTR_variant,,ENST00000283268,;FEZF2,3_prime_UTR_variant,,ENST00000475839,;FEZF2,3_prime_UTR_variant,,ENST00000486811,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	1837	10	11	SUCCESS
PALM2AKAP2		.	GRCh37	9	112930877	112930877	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs748110027	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	21	61	0	ENST00000259318.7:c.*100A>G			ENST00000259318	NM_001136562.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35100.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCAAACAAA	NONE	.	.	.	.	.	ENSP00000363654	.	11/11	.	.	.	.	.	.	.	.	rs748110027	11/11	PASS	ENST00000374530	Transcript	.	.	ENSG00000157654	33529	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PALM2-AKAP2	HGNC	.	.	UPI0000125755	SNV	PALM2-AKAP2,3_prime_UTR_variant,,ENST00000374530,;AKAP2,3_prime_UTR_variant,,ENST00000374525,;AKAP2,3_prime_UTR_variant,,ENST00000259318,;AKAP2,3_prime_UTR_variant,,ENST00000434623,;PALM2-AKAP2,3_prime_UTR_variant,,ENST00000302798,;AKAP2,downstream_gene_variant,,ENST00000510514,;AKAP2,downstream_gene_variant,,ENST00000555236,;AKAP2,non_coding_transcript_exon_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000485762,;AKAP2,3_prime_UTR_variant,,ENST00000495980,;	3592	61	28	SUCCESS
ZBTB33	10009	.	GRCh37	X	119391028	119391028	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAED-01	TCGA-DD-AAED-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	57	58	0	ENST00000326624.2:c.*1739A>C			ENST00000326624	NM_006777.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14596.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTAAACTAAC	NONE	.	.	.	.	.	ENSP00000314153	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326624	Transcript	.	.	ENSG00000177485	16682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAISO_HUMAN	ZBTB33	HGNC	.	.	UPI0000072F87	SNV	ZBTB33,3_prime_UTR_variant,,ENST00000326624,;TMEM255A,downstream_gene_variant,,ENST00000371369,;TMEM255A,downstream_gene_variant,,ENST00000440464,;TMEM255A,downstream_gene_variant,,ENST00000371352,;TMEM255A,downstream_gene_variant,,ENST00000309720,;ZBTB33,downstream_gene_variant,,ENST00000557385,;	3986	58	66	SUCCESS
GPAM	57678	.	GRCh37	10	113913131	113913131	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	12	0	ENST00000348367.4:c.*177A>G			ENST00000348367				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7570.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GTTGATGCAGA	NONE	.	.	.	.	.	ENSP00000265276	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000348367	Transcript	.	.	ENSG00000119927	24865	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPAT1_HUMAN	GPAM	HGNC	Q6ZMG4_HUMAN	.	UPI000004AC02	SNV	GPAM,3_prime_UTR_variant,,ENST00000348367,;GPAM,3_prime_UTR_variant,,ENST00000423155,;GPAM,downstream_gene_variant,,ENST00000369425,;	2862	12	14	SUCCESS
ANKRD30A	91074	.	GRCh37	10	37520492	37520492	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	104	23	86	0	ENST00000361713.1:c.*95T>C			ENST00000361713	NM_052997.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7193.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATGTTGAAA	NONE	.	.	.	.	.	ENSP00000354432	.	35/36	.	.	.	.	.	.	.	.	.	35/36	PASS	ENST00000361713	Transcript	.	.	ENSG00000148513	17234	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN30A_HUMAN	ANKRD30A	HGNC	R4GNA2_HUMAN	.	UPI0000458879	SNV	ANKRD30A,3_prime_UTR_variant,,ENST00000374660,;ANKRD30A,3_prime_UTR_variant,,ENST00000361713,;ANKRD30A,3_prime_UTR_variant,,ENST00000602533,;	4220	86	127	SUCCESS
SFTPA1	653509	.	GRCh37	10	81374879	81374879	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1042514338	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	347	282	428	0	ENST00000398636.3:c.*1010C>T			ENST00000398636	NM_005411.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44444.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTACTACCA	NONE	.	925	.	.	.	ENSP00000397082	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000419470	Transcript	1	.	ENSG00000122852	10798	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SFTA1_HUMAN	SFTPA1	HGNC	B7Z4Y4_HUMAN,J3KPA7_HUMAN,B4DNW5_HUMAN,B4DNR9_HUMAN	.	UPI00006C104C	SNV	SFTPA1,3_prime_UTR_variant,,ENST00000428376,;SFTPA1,3_prime_UTR_variant,,ENST00000398636,;SFTPA1,downstream_gene_variant,,ENST00000429958,;SFTPA1,downstream_gene_variant,,ENST00000372308,;SFTPA1,downstream_gene_variant,,ENST00000439264,;SFTPA1,downstream_gene_variant,,ENST00000419470,;SFTPA1,downstream_gene_variant,,ENST00000372313,;SFTPA1,downstream_gene_variant,,ENST00000486922,;	.	428	629	SUCCESS
FUT4	2526	.	GRCh37	11	94279275	94279275	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	47	58	0	ENST00000358752.2:c.*383T>G			ENST00000358752	NM_002033.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCTCATAC	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	2259	58	96	SUCCESS
SOX1	6656	.	GRCh37	13	112725560	112725560	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	57	87	0	ENST00000330949.1:c.*2412C>G			ENST00000330949	NM_005986.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9523.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCACTTTAG	NONE	.	.	.	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330949	Transcript	.	.	ENSG00000182968	11189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,3_prime_UTR_variant,,ENST00000330949,;	3648	87	146	SUCCESS
SOCS6	9306	.	GRCh37	18	67993590	67993590	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	124	31	64	0	ENST00000397942.3:c.*78A>G			ENST00000397942	NM_004232.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCATCAAA	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,3_prime_UTR_variant,,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	2002	64	155	SUCCESS
ZNF516	9658	.	GRCh37	18	74074355	74074355	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	7	47	0	ENST00000443185.2:c.*98G>A			ENST00000443185	NM_014643.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	TCTTCCATGGA	NONE	.	.	.	.	.	ENSP00000394757	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000443185	Transcript	.	.	ENSG00000101493	28990	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN516_HUMAN	ZNF516	HGNC	F5H2K2_HUMAN	.	UPI00001394A1	SNV	ZNF516,3_prime_UTR_variant,,ENST00000443185,;ZNF516,3_prime_UTR_variant,,ENST00000542818,;ZNF516,non_coding_transcript_exon_variant,,ENST00000529449,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;ZNF516,upstream_gene_variant,,ENST00000543743,;	3908	47	72	SUCCESS
VN1R85P	100312830	.	GRCh37	19	22362724	22362724	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs773875760	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	117	24	82	0				ENST00000601587				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42539.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCTGAAGG	NONE	.	.	.	.	.	ENSP00000380310	.	3/3	.	.	.	.	.	.	.	.	rs773875760	3/3	PASS	ENST00000397121	Transcript	.	.	ENSG00000196109	20429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN676_HUMAN	ZNF676	HGNC	.	.	UPI00002376EC	SNV	ZNF676,3_prime_UTR_variant,,ENST00000397121,;VN1R85P,upstream_gene_variant,,ENST00000601587,;	2113	82	142	SUCCESS
ZNF91	7644	.	GRCh37	19	23542118	23542118	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs527938856	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	10	0	ENST00000300619.7:c.*87C>T			ENST00000300619	NM_003430.2			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS42541.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCGGGTTC	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000300619	A:0.001	4/4	.	.	.	.	.	.	.	.	rs527938856	4/4	PASS	ENST00000300619	Transcript	.	A:0.0022	ENSG00000167232	13166	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0092	.	.	ZNF91_HUMAN	ZNF91	HGNC	M0R186_HUMAN	.	UPI00002038F9	SNV	ZNF91,3_prime_UTR_variant,,ENST00000300619,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,downstream_gene_variant,,ENST00000397082,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000596528,;	3869	10	19	SUCCESS
TRIM62	55223	.	GRCh37	1	33611516	33611516	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	146	42	85	0	ENST00000291416.5:c.*1262T>C			ENST00000291416	NM_018207.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS376.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTAAGTTCC	NONE	.	.	.	.	.	ENSP00000291416	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000291416	Transcript	.	.	ENSG00000116525	25574	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI62_HUMAN	TRIM62	HGNC	.	.	UPI000004E050	SNV	TRIM62,3_prime_UTR_variant,,ENST00000291416,;TRIM62,downstream_gene_variant,,ENST00000543586,;	2924	85	188	SUCCESS
ANGPT4	51378	.	GRCh37	20	853510	853510	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1008352804	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	13	0	ENST00000381922.3:c.*93C>T			ENST00000381922	NM_015985.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13009.1	.	RADIA|MUTECT|MUSE	.	AAGGCGGTGGC	NONE	.	.	.	.	.	ENSP00000371347	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000381922	Transcript	.	.	ENSG00000101280	487	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANGP4_HUMAN	ANGPT4	HGNC	.	.	UPI0000062232	SNV	ANGPT4,3_prime_UTR_variant,,ENST00000546022,;ANGPT4,3_prime_UTR_variant,,ENST00000381922,;	1708	13	12	SUCCESS
SOX4	6659	.	GRCh37	6	21598499	21598499	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	59	95	0	ENST00000244745.1:c.*2309A>G			ENST00000244745	NM_003107.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAAAAAGT	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;RP3-322L4.2,upstream_gene_variant,,ENST00000404566,;	4528	95	146	SUCCESS
STEAP2	261729	.	GRCh37	7	89866424	89866424	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	11	0	ENST00000287908.3:c.*4486A>G			ENST00000287908	NM_152999.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5615.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGATATAACA	NONE	.	.	.	.	.	ENSP00000287908	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000287908	Transcript	.	.	ENSG00000157214	17885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STEA2_HUMAN	STEAP2	HGNC	C9JLP2_HUMAN,C9JHX5_HUMAN	.	UPI000013DEE0	SNV	STEAP2,3_prime_UTR_variant,,ENST00000287908,;STEAP2,3_prime_UTR_variant,,ENST00000394622,;STEAP2,3_prime_UTR_variant,,ENST00000394629,;STEAP2,3_prime_UTR_variant,,ENST00000394632,;STEAP2,3_prime_UTR_variant,,ENST00000394626,;STEAP2,intron_variant,,ENST00000402625,;STEAP2,downstream_gene_variant,,ENST00000394621,;	6352	11	14	SUCCESS
DIRAS2	54769	.	GRCh37	9	93375439	93375439	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1399864523	.	TCGA-DD-AAEE-01	TCGA-DD-AAEE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	17	26	0	ENST00000375765.3:c.*71G>A			ENST00000375765	NM_017594.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6687.1	.	MUTECT|MUSE	.	CCTGACGACGG	NONE	.	.	.	.	.	ENSP00000364919	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375765	Transcript	.	.	ENSG00000165023	19323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DIRA2_HUMAN	DIRAS2	HGNC	.	.	UPI000004D253	SNV	DIRAS2,3_prime_UTR_variant,,ENST00000375765,;	1060	26	30	SUCCESS
P4HA1	5033	.	GRCh37	10	74767975	74767976	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	105	31	115	0	ENST00000307116.2:c.*4dup			ENST00000307116				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41537.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCCTGTTTGT	NONE	.	.	.	.	.	ENSP00000411688	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000412021	Transcript	.	.	ENSG00000122884	8546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	P4HA1_HUMAN	P4HA1	HGNC	.	.	UPI0000001C27	insertion	P4HA1,3_prime_UTR_variant,,ENST00000440381,;P4HA1,3_prime_UTR_variant,,ENST00000394890,;P4HA1,3_prime_UTR_variant,,ENST00000373008,;P4HA1,3_prime_UTR_variant,,ENST00000307116,;P4HA1,3_prime_UTR_variant,,ENST00000412021,;P4HA1,3_prime_UTR_variant,,ENST00000263556,;P4HA1,downstream_gene_variant,,ENST00000464310,;RPL17P50,upstream_gene_variant,,ENST00000396131,;	1943-1944	115	136	SUCCESS
FMNL3	91010	.	GRCh37	12	50039430	50039430	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	8	0	ENST00000335154.5:c.*168C>G			ENST00000335154	NM_175736.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44874.1	.	MUTECT|MUSE	.	CTACAGACCTA	NONE	.	.	.	.	.	ENSP00000335655	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000335154	Transcript	.	.	ENSG00000161791	23698	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FMNL3_HUMAN	FMNL3	HGNC	.	.	UPI00001FC1CB	SNV	FMNL3,3_prime_UTR_variant,,ENST00000550488,;FMNL3,3_prime_UTR_variant,,ENST00000335154,;FMNL3,3_prime_UTR_variant,,ENST00000352151,;PRPF40B,downstream_gene_variant,,ENST00000548825,;FMNL3,downstream_gene_variant,,ENST00000293590,;PRPF40B,downstream_gene_variant,,ENST00000261897,;PRPF40B,downstream_gene_variant,,ENST00000380281,;FMNL3,non_coding_transcript_exon_variant,,ENST00000549137,;PRPF40B,downstream_gene_variant,,ENST00000549547,;PRPF40B,downstream_gene_variant,,ENST00000548399,;PRPF40B,downstream_gene_variant,,ENST00000546626,;PRPF40B,downstream_gene_variant,,ENST00000551269,;	3486	8	14	SUCCESS
TMC6	11322	.	GRCh37	17	76109129	76109129	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1482216496	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	37	0	ENST00000322914.3:c.*100C>T			ENST00000322914	NM_007267.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32748.1	.	MUTECT|MUSE	.	GAGGCGAAACT	NONE	.	.	.	.	.	ENSP00000465261	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000590602	Transcript	.	.	ENSG00000141524	18021	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMC6_HUMAN	TMC6	HGNC	Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN	.	UPI000013D819	SNV	TMC6,3_prime_UTR_variant,,ENST00000306591,;TMC6,3_prime_UTR_variant,,ENST00000392467,;TMC6,3_prime_UTR_variant,,ENST00000590602,;TMC6,3_prime_UTR_variant,,ENST00000322933,;TMC6,3_prime_UTR_variant,,ENST00000322914,;TNRC6C,downstream_gene_variant,,ENST00000301624,;TNRC6C,downstream_gene_variant,,ENST00000335749,;TMC6,downstream_gene_variant,,ENST00000591436,;TNRC6C-AS1,upstream_gene_variant,,ENST00000589217,;TMC6,non_coding_transcript_exon_variant,,ENST00000592076,;TNRC6C-AS1,upstream_gene_variant,,ENST00000374976,;TMC6,non_coding_transcript_exon_variant,,ENST00000590494,;TMC6,downstream_gene_variant,,ENST00000589933,;TMC6,downstream_gene_variant,,ENST00000593044,;TNRC6C-AS1,upstream_gene_variant,,ENST00000592939,;	2678	37	35	SUCCESS
PTGER1	5731	.	GRCh37	19	14583354	14583354	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1328979143	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	16	0	ENST00000292513.3:c.*18A>G			ENST00000292513	NM_000955.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12309.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCGTTGGGC	NONE	.	.	.	.	.	ENSP00000292513	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000292513	Transcript	.	.	ENSG00000160951	9593	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PE2R1_HUMAN	PTGER1	HGNC	.	.	UPI0000140CA1	SNV	PTGER1,3_prime_UTR_variant,,ENST00000292513,;PKN1,downstream_gene_variant,,ENST00000242783,;PKN1,downstream_gene_variant,,ENST00000592960,;PKN1,downstream_gene_variant,,ENST00000586237,;PKN1,downstream_gene_variant,,ENST00000342216,;PKN1,downstream_gene_variant,,ENST00000585839,;PKN1,downstream_gene_variant,,ENST00000586039,;PKN1,downstream_gene_variant,,ENST00000586900,;PKN1,downstream_gene_variant,,ENST00000591461,;PKN1,downstream_gene_variant,,ENST00000587215,;	1345	16	48	SUCCESS
PBX4	80714	.	GRCh37	19	19672793	19672793	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1257826349	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	20	0	ENST00000251203.9:c.*41A>G			ENST00000251203	NM_025245.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12406.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACATGGCAG	NONE	.	.	.	.	.	ENSP00000251203	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000251203	Transcript	.	.	ENSG00000105717	13403	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PBX4_HUMAN	PBX4	HGNC	.	.	UPI000013CCED	SNV	PBX4,3_prime_UTR_variant,,ENST00000251203,;PBX4,non_coding_transcript_exon_variant,,ENST00000558276,;PBX4,downstream_gene_variant,,ENST00000558222,;PBX4,downstream_gene_variant,,ENST00000557978,;	1453	20	34	SUCCESS
FHAD1	114827	.	GRCh37	1	15723948	15723948	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	53	0	ENST00000358897.4:c.*39G>A			ENST00000358897	NM_052929.1			0	.	.	.	.	.	A	.	protein_coding	.	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGTGAGTTC	NONE	.	.	.	.	.	ENSP00000318812	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000314668	Transcript	.	.	ENSG00000142621	29408	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	FHAD1	HGNC	Q5JYW6_HUMAN	.	UPI00003728D4	SNV	FHAD1,3_prime_UTR_variant,,ENST00000314668,;FHAD1,3_prime_UTR_variant,,ENST00000314740,;FHAD1,3_prime_UTR_variant,,ENST00000417793,;FHAD1,3_prime_UTR_variant,,ENST00000358897,;FHAD1,3_prime_UTR_variant,,ENST00000375998,;FHAD1,3_prime_UTR_variant,,ENST00000529606,;FHAD1,splice_region_variant,,ENST00000472449,;FHAD1,splice_region_variant,,ENST00000477846,;FHAD1,non_coding_transcript_exon_variant,,ENST00000495195,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000472086,;FHAD1,3_prime_UTR_variant,,ENST00000481324,;	1983	53	47	SUCCESS
KLHDC7A	127707	.	GRCh37	1	18810279	18810279	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	88	11	89	0	ENST00000400664.1:c.*472del			ENST00000400664	NM_152375.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS185.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACAGTTCCCAGA	NONE	.	.	.	.	.	ENSP00000383505	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400664	Transcript	.	.	ENSG00000179023	26791	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KLD7A_HUMAN	KLHDC7A	HGNC	A4FU39_HUMAN	.	UPI0000E0501F	deletion	KLHDC7A,3_prime_UTR_variant,,ENST00000400664,;	2856	89	99	SUCCESS
BPNT1	10380	.	GRCh37	1	220231020	220231020	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	164	25	85	0	ENST00000322067.7:c.*1166T>G			ENST00000322067	NM_006085.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41469.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGAATGTAT	NONE	.	.	.	.	.	ENSP00000446828	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000469520	Transcript	.	.	ENSG00000162813	1096	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BPNT1_HUMAN	BPNT1	HGNC	F8VVW8_HUMAN,F8VRY7_HUMAN,B4DPS5_HUMAN	.	UPI000007212C	SNV	BPNT1,3_prime_UTR_variant,,ENST00000469520,;BPNT1,3_prime_UTR_variant,,ENST00000322067,;BPNT1,downstream_gene_variant,,ENST00000354807,;BPNT1,downstream_gene_variant,,ENST00000544404,;BPNT1,downstream_gene_variant,,ENST00000414869,;	2543	85	189	SUCCESS
SDE2	163859	.	GRCh37	1	226172863	226172863	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	26	9	0	ENST00000272091.7:c.*140G>T			ENST00000272091	NM_152608.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41473.1	.	MUTECT|MUSE|VARSCANS	.	CCTGACAAGGA	NONE	.	.	.	.	.	ENSP00000272091	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000272091	Transcript	.	.	ENSG00000143751	26643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDE2_HUMAN	SDE2	HGNC	.	.	UPI0000204007	SNV	SDE2,3_prime_UTR_variant,,ENST00000272091,;	1515	9	34	SUCCESS
CCBL2	0	.	GRCh37	1	89401802	89401802	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	3	55	0	ENST00000260508.4:c.*64C>A			ENST00000260508	NM_001008661.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30766.1	.	MUTECT|MUSE	.	AGGTGGCAGCA	NONE	.	.	.	.	.	ENSP00000260508	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000260508	Transcript	.	.	ENSG00000137944	33238	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KAT3_HUMAN	CCBL2	HGNC	B4DW13_HUMAN	.	UPI0000155712	SNV	CCBL2,3_prime_UTR_variant,,ENST00000370491,;CCBL2,3_prime_UTR_variant,,ENST00000370485,;CCBL2,3_prime_UTR_variant,,ENST00000260508,;CCBL2,non_coding_transcript_exon_variant,,ENST00000446900,;	1767	55	44	SUCCESS
ROPN1	54763	.	GRCh37	3	123687977	123687977	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	57	0	ENST00000184183.4:c.*25G>A			ENST00000184183	NM_017578.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3026.1	.	MUTECT|MUSE	.	TCTTCCTTTAA	NONE	.	.	.	.	.	ENSP00000184183	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000184183	Transcript	.	.	ENSG00000065371	17692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ROP1A_HUMAN	ROPN1	HGNC	C9JP07_HUMAN,C9J6H4_HUMAN,C9J012_HUMAN	.	UPI00000738C9	SNV	ROPN1,3_prime_UTR_variant,,ENST00000184183,;ROPN1,3_prime_UTR_variant,,ENST00000405845,;	1005	57	59	SUCCESS
LMOD3	56203	.	GRCh37	3	69158092	69158092	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	13	0	ENST00000420581.2:c.*154G>C			ENST00000420581	NM_198271.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46862.1	.	RADIA|MUTECT|MUSE	.	CCAAACATTCT	NONE	.	.	.	.	.	ENSP00000414670	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000420581	Transcript	.	.	ENSG00000163380	6649	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LMOD3_HUMAN	LMOD3	HGNC	.	.	UPI00001612AC	SNV	LMOD3,3_prime_UTR_variant,,ENST00000489031,;LMOD3,3_prime_UTR_variant,,ENST00000475434,;LMOD3,3_prime_UTR_variant,,ENST00000420581,;ARL6IP5,downstream_gene_variant,,ENST00000478935,;ARL6IP5,downstream_gene_variant,,ENST00000273258,;ARL6IP5,downstream_gene_variant,,ENST00000484921,;	2017	13	12	SUCCESS
ROBO1	6091	.	GRCh37	3	78647957	78647957	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	32	0	ENST00000464233.1:c.*106T>C			ENST00000464233	NM_002941.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54611.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTACACTC	NONE	.	.	.	.	.	ENSP00000420321	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000464233	Transcript	.	.	ENSG00000169855	10249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROBO1_HUMAN	ROBO1	HGNC	.	.	UPI00000713D9	SNV	ROBO1,3_prime_UTR_variant,,ENST00000464233,;ROBO1,3_prime_UTR_variant,,ENST00000495273,;ROBO1,3_prime_UTR_variant,,ENST00000436010,;ROBO1,downstream_gene_variant,,ENST00000467549,;ROBO1,downstream_gene_variant,,ENST00000466906,;	5176	32	27	SUCCESS
NEIL3	55247	.	GRCh37	4	178283776	178283776	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1246581477	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	15	0	ENST00000264596.3:c.*151A>G			ENST00000264596	NM_018248.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3828.1	.	MUTECT|MUSE	.	GTGCCATCTTT	NONE	.	.	.	.	.	ENSP00000264596	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000264596	Transcript	.	.	ENSG00000109674	24573	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEIL3_HUMAN	NEIL3	HGNC	.	.	UPI000013D53D	SNV	NEIL3,3_prime_UTR_variant,,ENST00000264596,;	2087	15	30	SUCCESS
CCDC25	55246	.	GRCh37	8	27593588	27593588	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs544392457	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	47	0	ENST00000356537.4:c.*145A>T			ENST00000356537	NM_018246.2			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS6062.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTAAAAC	NONE	by1000G	.	.	A:0	.	ENSP00000348933	A:0	9/9	.	.	.	.	.	.	.	.	rs544392457	9/9	PASS	ENST00000356537	Transcript	.	A:0.0002	ENSG00000147419	25591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	CCD25_HUMAN	CCDC25	HGNC	Q0P663_HUMAN	.	UPI0000039E53	SNV	CCDC25,3_prime_UTR_variant,,ENST00000522915,;CCDC25,3_prime_UTR_variant,,ENST00000356537,;CCDC25,3_prime_UTR_variant,,ENST00000539095,;RP11-16P20.3,intron_variant,,ENST00000521510,;CCDC25,3_prime_UTR_variant,,ENST00000523841,;CCDC25,3_prime_UTR_variant,,ENST00000520486,;CCDC25,3_prime_UTR_variant,,ENST00000520202,;CCDC25,3_prime_UTR_variant,,ENST00000519509,;CCDC25,downstream_gene_variant,,ENST00000524084,;CCDC25,downstream_gene_variant,,ENST00000521220,;	866	47	32	SUCCESS
ZMAT4	79698	.	GRCh37	8	40389709	40389709	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1051615126	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	5	73	0	ENST00000297737.6:c.*33A>G			ENST00000297737	NM_024645.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34885.1	.	MUTECT|MUSE	.	GCTAATGTTTT	NONE	.	.	.	.	.	ENSP00000297737	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000297737	Transcript	.	.	ENSG00000165061	25844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZMAT4_HUMAN	ZMAT4	HGNC	E5RIF5_HUMAN	.	UPI0000046C33	SNV	ZMAT4,3_prime_UTR_variant,,ENST00000297737,;ZMAT4,3_prime_UTR_variant,,ENST00000315769,;	870	73	66	SUCCESS
GLUD2	2747	.	GRCh37	X	120183581	120183581	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	41	167	0	ENST00000328078.1:c.*366G>A			ENST00000328078	NM_012084.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14603.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGACACG	NONE	.	.	.	.	.	ENSP00000327589	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328078	Transcript	.	.	ENSG00000182890	4336	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DHE4_HUMAN	GLUD2	HGNC	Q9BSD0_HUMAN	.	UPI0000129301	SNV	GLUD2,3_prime_UTR_variant,,ENST00000328078,;	2120	167	149	SUCCESS
SPRY3	10251	.	GRCh37	X	155005938	155005938	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1218616990	.	TCGA-DD-AAEG-01	TCGA-DD-AAEG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	200	12	212	0	ENST00000302805.2:c.*1538G>A			ENST00000302805	NM_005840.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14769.4	.	MUTECT|MUSE	.	GAAAAGAAAAG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	2836	212	213	SUCCESS
GRIA4	2893	.	GRCh37	11	105850546	105850546	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs778490012	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	9	15	0	ENST00000282499.5:c.*80C>A			ENST00000282499	NM_000829.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8333.1	.	MUTECT|MUSE	.	ACGCGCGGGTC	NONE	.	.	.	.	.	ENSP00000282499	.	17/17	.	.	.	.	.	.	.	.	rs778490012	17/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	SNV	GRIA4,3_prime_UTR_variant,,ENST00000282499,;GRIA4,3_prime_UTR_variant,,ENST00000530497,;GRIA4,3_prime_UTR_variant,,ENST00000393127,;GRIA4,downstream_gene_variant,,ENST00000525187,;RNU6-277P,upstream_gene_variant,,ENST00000516272,;GRIA4,non_coding_transcript_exon_variant,,ENST00000533094,;	3235	15	33	SUCCESS
RIC8A	60626	.	GRCh37	11	214370	214370	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	46	0	ENST00000526104.1:c.*20C>T			ENST00000526104	NM_001286134.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7690.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCTCCCCCA	NONE	.	.	.	.	.	ENSP00000325941	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000325207	Transcript	.	.	ENSG00000177963	29550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIC8A_HUMAN	RIC8A	HGNC	E9PMP0_HUMAN	.	UPI0000037C19	SNV	RIC8A,missense_variant,p.Pro106Ser,ENST00000529275,;RIC8A,3_prime_UTR_variant,,ENST00000524854,;RIC8A,3_prime_UTR_variant,,ENST00000325207,;RIC8A,3_prime_UTR_variant,,ENST00000527696,;RIC8A,3_prime_UTR_variant,,ENST00000526104,;RIC8A,downstream_gene_variant,,ENST00000528357,;SIRT3,downstream_gene_variant,,ENST00000529382,;RIC8A,downstream_gene_variant,,ENST00000530889,;RIC8A,downstream_gene_variant,,ENST00000527468,;SIRT3,downstream_gene_variant,,ENST00000532956,;RIC8A,downstream_gene_variant,,ENST00000527728,;SIRT3,downstream_gene_variant,,ENST00000525319,;SIRT3,downstream_gene_variant,,ENST00000524564,;SIRT3,downstream_gene_variant,,ENST00000382743,;RIC8A,non_coding_transcript_exon_variant,,ENST00000531541,;RIC8A,non_coding_transcript_exon_variant,,ENST00000526557,;SIRT3,downstream_gene_variant,,ENST00000529937,;RIC8A,downstream_gene_variant,,ENST00000526982,;RIC8A,downstream_gene_variant,,ENST00000527039,;RIC8A,downstream_gene_variant,,ENST00000530149,;RIC8A,downstream_gene_variant,,ENST00000532241,;RIC8A,downstream_gene_variant,,ENST00000532373,;SIRT3,downstream_gene_variant,,ENST00000532837,;	1959	46	45	SUCCESS
HNRNPUL2-BSCL2	100534595	.	GRCh37	11	62473718	62473718	+	intron_variant,NMD_transcript_variant	Intron	SNP	G	G	A	rs1393315975	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	32	76	0	ENST00000403734.2:c.*139-629C>T			ENST00000403734				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44627.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAGGGCTGCC	NONE	.	.	.	.	.	ENSP00000414002	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000433053	Transcript	.	.	ENSG00000168000	15832	.	.	MODIFIER	2/11	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BSCL2_HUMAN	BSCL2	HGNC	F8W7Q8_HUMAN,E9PSB5_HUMAN,E9PRU2_HUMAN,E9PPN5_HUMAN,E9PJS9_HUMAN,E9PJK0_HUMAN,E9PIU3_HUMAN	.	UPI0000140040	SNV	BSCL2,5_prime_UTR_variant,,ENST00000407022,;BSCL2,5_prime_UTR_variant,,ENST00000278893,;BSCL2,intron_variant,,ENST00000524862,;BSCL2,intron_variant,,ENST00000421906,;BSCL2,intron_variant,,ENST00000433053,;BSCL2,intron_variant,,ENST00000360796,;BSCL2,intron_variant,,ENST00000405837,;BSCL2,intron_variant,,ENST00000464544,;BSCL2,intron_variant,,ENST00000532818,;BSCL2,intron_variant,,ENST00000531524,;BSCL2,intron_variant,,ENST00000525000,;BSCL2,intron_variant,,ENST00000533982,;BSCL2,upstream_gene_variant,,ENST00000403550,;BSCL2,downstream_gene_variant,,ENST00000530009,;GNG3,upstream_gene_variant,,ENST00000294117,;BSCL2,upstream_gene_variant,,ENST00000448568,;BSCL2,downstream_gene_variant,,ENST00000528874,;BSCL2,non_coding_transcript_exon_variant,,ENST00000530900,;BSCL2,upstream_gene_variant,,ENST00000537604,;BSCL2,intron_variant,,ENST00000301781,;HNRNPUL2-BSCL2,intron_variant,,ENST00000403734,;BSCL2,intron_variant,,ENST00000413908,;	.	76	97	SUCCESS
TTC9	23508	.	GRCh37	14	71137958	71137958	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	7	20	0	ENST00000256367.2:c.*88del			ENST00000256367	NM_015351.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS45132.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTCTGTCCCTTT	NONE	.	.	.	.	.	ENSP00000256367	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000256367	Transcript	.	.	ENSG00000133985	20267	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TTC9A_HUMAN	TTC9	HGNC	.	.	UPI00001C1F60	deletion	TTC9,3_prime_UTR_variant,,ENST00000256367,;	1098	20	31	SUCCESS
C14orf159	0	.	GRCh37	14	91691249	91691249	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	12	13	0	ENST00000518868.1:c.*72C>T			ENST00000518868	NM_001286470.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41979.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTTCTGGCG	NONE	.	.	.	.	.	ENSP00000428263	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000518868	Transcript	.	.	ENSG00000133943	20498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CN159_HUMAN	C14orf159	HGNC	E5RK56_HUMAN,E5RK14_HUMAN,E5RJD1_HUMAN,E5RJ87_HUMAN,E5RJ62_HUMAN,E5RIU5_HUMAN,E5RIL4_HUMAN,E5RHG2_HUMAN,E5RGP9_HUMAN,E5RFT5_HUMAN	.	UPI000000CC60	SNV	C14orf159,3_prime_UTR_variant,,ENST00000523816,;C14orf159,3_prime_UTR_variant,,ENST00000518868,;C14orf159,3_prime_UTR_variant,,ENST00000521077,;C14orf159,3_prime_UTR_variant,,ENST00000520328,;C14orf159,3_prime_UTR_variant,,ENST00000428926,;C14orf159,3_prime_UTR_variant,,ENST00000522322,;C14orf159,3_prime_UTR_variant,,ENST00000523771,;C14orf159,3_prime_UTR_variant,,ENST00000256324,;C14orf159,3_prime_UTR_variant,,ENST00000525393,;C14orf159,3_prime_UTR_variant,,ENST00000412671,;C14orf159,downstream_gene_variant,,ENST00000522816,;C14orf159,downstream_gene_variant,,ENST00000523576,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;C14orf159,3_prime_UTR_variant,,ENST00000523461,;C14orf159,3_prime_UTR_variant,,ENST00000517306,;	2628	13	33	SUCCESS
ATP9B	374868	.	GRCh37	18	77137385	77137385	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	11	17	0	ENST00000426216.2:c.*2G>T			ENST00000426216	NM_198531.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12014.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGGGGCTG	NONE	.	.	.	.	.	ENSP00000398076	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000426216	Transcript	.	.	ENSG00000166377	13541	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATP9B_HUMAN	ATP9B	HGNC	.	.	UPI00002371AF	SNV	ATP9B,3_prime_UTR_variant,,ENST00000543761,;ATP9B,3_prime_UTR_variant,,ENST00000307671,;ATP9B,3_prime_UTR_variant,,ENST00000426216,;ATP9B,3_prime_UTR_variant,,ENST00000590477,;ATP9B,3_prime_UTR_variant,,ENST00000588921,;ATP9B,downstream_gene_variant,,ENST00000589951,;ATP9B,downstream_gene_variant,,ENST00000587919,;ATP9B,downstream_gene_variant,,ENST00000587410,;	3463	17	31	SUCCESS
PITHD1	57095	.	GRCh37	1	24113999	24113999	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	27	0	ENST00000246151.4:c.*133G>A			ENST00000246151	NM_020362.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS240.1	.	RADIA|MUTECT|MUSE	.	GGCTTGCTGCA	NONE	.	.	.	.	.	ENSP00000246151	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000246151	Transcript	.	.	ENSG00000057757	25022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PITH1_HUMAN	PITHD1	HGNC	B4DKP7_HUMAN	.	UPI000006E2EA	SNV	PITHD1,3_prime_UTR_variant,,ENST00000246151,;PITHD1,3_prime_UTR_variant,,ENST00000374524,;LYPLA2,upstream_gene_variant,,ENST00000400061,;LYPLA2,upstream_gene_variant,,ENST00000421070,;LYPLA2,upstream_gene_variant,,ENST00000420982,;LYPLA2,upstream_gene_variant,,ENST00000374503,;LYPLA2,upstream_gene_variant,,ENST00000374514,;LYPLA2,upstream_gene_variant,,ENST00000374502,;LYPLA2,upstream_gene_variant,,ENST00000374505,;PITHD1,downstream_gene_variant,,ENST00000415372,;LYPLA2,upstream_gene_variant,,ENST00000492577,;LYPLA2,upstream_gene_variant,,ENST00000495365,;	880	27	10	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125672529	125672529	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	17	0	ENST00000431078.1:c.*664T>A			ENST00000431078	NM_130773.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46401.1	.	MUTECT|MUSE	.	TCTCCTGGGGC	NONE	.	.	.	.	.	ENSP00000399013	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,3_prime_UTR_variant,,ENST00000431078,;	4949	17	10	SUCCESS
TLX3	30012	.	GRCh37	5	170738654	170738654	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	32	59	0	ENST00000296921.5:c.*51C>A			ENST00000296921	NM_021025.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34288.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGGGCGCCCC	NONE	.	.	.	.	.	ENSP00000296921	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296921	Transcript	1	.	ENSG00000164438	13532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLX3_HUMAN	TLX3	HGNC	.	.	UPI000013E3AA	SNV	TLX3,3_prime_UTR_variant,,ENST00000296921,;	1009	59	102	SUCCESS
TMUB1	83590	.	GRCh37	7	150778500	150778500	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEH-01	TCGA-DD-AAEH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	3	13	0	ENST00000297533.4:c.*136G>A			ENST00000297533	NM_001136044.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5920.1	.	MUTECT|MUSE	.	CTCTGCGGCGC	NONE	.	.	.	.	.	ENSP00000376565	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000392818	Transcript	.	.	ENSG00000164897	21709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMUB1_HUMAN	TMUB1	HGNC	C9JE12_HUMAN,C9JCW7_HUMAN	.	UPI0000071C66	SNV	TMUB1,3_prime_UTR_variant,,ENST00000297533,;TMUB1,3_prime_UTR_variant,,ENST00000392818,;TMUB1,3_prime_UTR_variant,,ENST00000462940,;TMUB1,downstream_gene_variant,,ENST00000488752,;FASTK,upstream_gene_variant,,ENST00000297532,;SLC4A2,downstream_gene_variant,,ENST00000310317,;TMUB1,downstream_gene_variant,,ENST00000482202,;SLC4A2,downstream_gene_variant,,ENST00000413384,;SLC4A2,downstream_gene_variant,,ENST00000461735,;FASTK,upstream_gene_variant,,ENST00000353841,;AGAP3,upstream_gene_variant,,ENST00000463381,;SLC4A2,downstream_gene_variant,,ENST00000485713,;FASTK,upstream_gene_variant,,ENST00000540185,;SLC4A2,downstream_gene_variant,,ENST00000392826,;FASTK,upstream_gene_variant,,ENST00000482571,;TMUB1,downstream_gene_variant,,ENST00000476627,;TMUB1,downstream_gene_variant,,ENST00000492838,;RP11-148K1.12,upstream_gene_variant,,ENST00000485974,;AGAP3,upstream_gene_variant,,ENST00000490097,;FASTK,upstream_gene_variant,,ENST00000478477,;FASTK,upstream_gene_variant,,ENST00000489884,;FASTK,upstream_gene_variant,,ENST00000496663,;FASTK,upstream_gene_variant,,ENST00000461979,;FASTK,upstream_gene_variant,,ENST00000460980,;FASTK,upstream_gene_variant,,ENST00000478883,;FASTK,upstream_gene_variant,,ENST00000482806,;FASTK,upstream_gene_variant,,ENST00000459800,;FASTK,upstream_gene_variant,,ENST00000469237,;SLC4A2,downstream_gene_variant,,ENST00000469467,;FASTK,upstream_gene_variant,,ENST00000466855,;FASTK,upstream_gene_variant,,ENST00000483953,;FASTK,upstream_gene_variant,,ENST00000465272,;FASTK,upstream_gene_variant,,ENST00000467237,;	1235	13	39	SUCCESS
ZNF664	144348	.	GRCh37	12	124498542	124498542	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1281745112	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	19	48	0	ENST00000337815.4:c.*1065A>G			ENST00000337815				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9257.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTATATGC	NONE	.	.	.	.	.	ENSP00000441405	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000539644	Transcript	.	.	ENSG00000179195	25406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN664_HUMAN	ZNF664	HGNC	.	.	UPI0000023E91	SNV	ZNF664,3_prime_UTR_variant,,ENST00000539644,;ZNF664,3_prime_UTR_variant,,ENST00000392404,;ZNF664,3_prime_UTR_variant,,ENST00000538932,;ZNF664,3_prime_UTR_variant,,ENST00000337815,;FAM101A,intron_variant,,ENST00000540762,;FAM101A,intron_variant,,ENST00000545615,;ZNF664,downstream_gene_variant,,ENST00000542493,;ZNF664,downstream_gene_variant,,ENST00000541448,;ZNF664,downstream_gene_variant,,ENST00000539501,;ZNF664,downstream_gene_variant,,ENST00000537532,;ZNF664,downstream_gene_variant,,ENST00000543017,;ZNF664,downstream_gene_variant,,ENST00000546098,;	3681	48	88	SUCCESS
WDR20	91833	.	GRCh37	14	102605737	102605737	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	46	145	0				ENST00000342702	NM_144574.3	2		0	.	.	.	.	.	A	P/L	protein_coding	YES	CCDS32160.1	5	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGGGGCATC	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000335153	.	1/12	.	.	.	.	.	.	.	.	.	1/12	PASS	ENST00000334701	Transcript	.	.	ENSG00000080824	5253	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.035)	.	.	.	HS90A_HUMAN	HSP90AA1	HGNC	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN	.	UPI0000408144	SNV	HSP90AA1,missense_variant,p.Pro2Leu,ENST00000334701,;WDR20,upstream_gene_variant,,ENST00000322340,;WDR20,upstream_gene_variant,,ENST00000335263,;WDR20,upstream_gene_variant,,ENST00000499851,;WDR20,upstream_gene_variant,,ENST00000556511,;WDR20,upstream_gene_variant,,ENST00000299135,;WDR20,upstream_gene_variant,,ENST00000342702,;WDR20,upstream_gene_variant,,ENST00000424963,;WDR20,upstream_gene_variant,,ENST00000558567,;WDR20,upstream_gene_variant,,ENST00000556807,;WDR20,upstream_gene_variant,,ENST00000454394,;HSP90AA1,non_coding_transcript_exon_variant,,ENST00000558600,;WDR20,upstream_gene_variant,,ENST00000561154,;WDR20,upstream_gene_variant,,ENST00000557186,;WDR20,upstream_gene_variant,,ENST00000557485,;HSP90AA1,missense_variant,p.Pro2Leu,ENST00000557234,;WDR20,upstream_gene_variant,,ENST00000556094,;WDR20,upstream_gene_variant,,ENST00000555879,;	287	145	130	SUCCESS
EIF5	1983	.	GRCh37	14	103807474	103807474	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	44	0	ENST00000216554.3:c.*85A>T			ENST00000216554	NM_001969.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9980.1	.	MUTECT|MUSE	.	GCAAAAGCTAA	NONE	.	.	.	.	.	ENSP00000216554	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000216554	Transcript	.	.	ENSG00000100664	3299	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IF5_HUMAN	EIF5	HGNC	H0YN40_HUMAN,H0YMJ8_HUMAN,H0YM54_HUMAN,H0YLZ1_HUMAN,H0YK29_HUMAN,H0YK11_HUMAN	.	UPI000012D3A5	SNV	EIF5,3_prime_UTR_variant,,ENST00000216554,;EIF5,3_prime_UTR_variant,,ENST00000392715,;EIF5,3_prime_UTR_variant,,ENST00000558506,;EIF5,downstream_gene_variant,,ENST00000560338,;EIF5,downstream_gene_variant,,ENST00000558265,;EIF5,downstream_gene_variant,,ENST00000561325,;EIF5,downstream_gene_variant,,ENST00000559532,;EIF5,downstream_gene_variant,,ENST00000558316,;EIF5,downstream_gene_variant,,ENST00000559130,;SNORA28,downstream_gene_variant,,ENST00000606769,;EIF5,intron_variant,,ENST00000561406,;EIF5,downstream_gene_variant,,ENST00000560200,;EIF5,non_coding_transcript_exon_variant,,ENST00000558800,;EIF5,downstream_gene_variant,,ENST00000558551,;EIF5,downstream_gene_variant,,ENST00000561023,;EIF5,downstream_gene_variant,,ENST00000559923,;EIF5,downstream_gene_variant,,ENST00000561439,;EIF5,downstream_gene_variant,,ENST00000559011,;EIF5,downstream_gene_variant,,ENST00000559249,;EIF5,downstream_gene_variant,,ENST00000561380,;	2057	44	37	SUCCESS
CTXN2	399697	.	GRCh37	15	48494872	48494872	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	136	44	174	0	ENST00000417307.2:c.*1129C>T			ENST00000417307	NM_001145668.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAACATACC	NONE	.	.	.	.	.	ENSP00000406145	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417307	Transcript	.	.	ENSG00000233932	31109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTXN2_HUMAN	CTXN2	HGNC	.	.	UPI00005A8DAF	SNV	CTXN2,3_prime_UTR_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000396577,;CTXN2,downstream_gene_variant,,ENST00000541248,;SLC12A1,upstream_gene_variant,,ENST00000330289,;SLC12A1,upstream_gene_variant,,ENST00000380993,;RP11-605F22.1,upstream_gene_variant,,ENST00000559875,;SLC12A1,intron_variant,,ENST00000561127,;	1747	174	180	SUCCESS
LEO1	123169	.	GRCh37	15	52230227	52230227	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	8	12	0	ENST00000299601.5:c.*126A>C			ENST00000299601	NM_138792.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10146.1	.	MUTECT|MUSE	.	TTGCTTTTAAA	NONE	.	.	.	.	.	ENSP00000299601	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000299601	Transcript	.	.	ENSG00000166477	30401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LEO1_HUMAN	LEO1	HGNC	.	.	UPI0000071CA0	SNV	LEO1,3_prime_UTR_variant,,ENST00000315141,;LEO1,3_prime_UTR_variant,,ENST00000299601,;TMOD3,intron_variant,,ENST00000561408,;TMOD3,intron_variant,,ENST00000558300,;TMOD3,intron_variant,,ENST00000559202,;TMOD3,intron_variant,,ENST00000558714,;TMOD3,downstream_gene_variant,,ENST00000561136,;	2188	12	17	SUCCESS
TRABD	80305	.	GRCh37	22	50636978	50636996	+	3_prime_UTR_variant	3'UTR	DEL	GAGGAGCCAGTGCCCCCGC	GAGGAGCCAGTGCCCCCGC	-	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	GAGGAGCCAGTGCCCCCGC	GAGGAGCCAGTGCCCCCGC	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	50	0	ENST00000303434.4:c.*31_*49del			ENST00000303434	NM_025204.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS14086.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCCTGAGGAGCCAGTGCCCCCGCGGCAC	NONE	.	.	.	.	.	ENSP00000305664	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000303434	Transcript	.	.	ENSG00000170638	28805	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TRABD_HUMAN	TRABD	HGNC	.	.	UPI0000049DAE	deletion	TRABD,3_prime_UTR_variant,,ENST00000395827,;TRABD,3_prime_UTR_variant,,ENST00000303434,;TRABD,3_prime_UTR_variant,,ENST00000380909,;TRABD,intron_variant,,ENST00000395829,;SELO,upstream_gene_variant,,ENST00000380903,;RP3-402G11.26,downstream_gene_variant,,ENST00000608025,;TRABD,non_coding_transcript_exon_variant,,ENST00000472677,;TRABD,non_coding_transcript_exon_variant,,ENST00000463233,;	1280-1298	50	46	SUCCESS
HES1	3280	.	GRCh37	3	193856046	193856046	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	10	0	ENST00000232424.3:c.*24C>T			ENST00000232424	NM_005524.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3305.1	.	RADIA|MUTECT|MUSE	.	TCCTCCTAAAC	NONE	.	.	.	.	.	ENSP00000232424	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000232424	Transcript	.	.	ENSG00000114315	5192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HES1_HUMAN	HES1	HGNC	Q8IXV0_HUMAN	.	UPI0000037B01	SNV	HES1,3_prime_UTR_variant,,ENST00000232424,;HES1,downstream_gene_variant,,ENST00000476918,;	1103	10	11	SUCCESS
MUC20	200958	.	GRCh37	3	195460216	195460216	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	24	0	ENST00000447234.2:c.*127G>T			ENST00000447234	NM_001282506.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS63877.1	.	MUTECT|MUSE	.	TGAAGGGCAGC	NONE	.	.	.	.	.	ENSP00000414350	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000447234	Transcript	.	.	ENSG00000176945	23282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUC20_HUMAN	MUC20	HGNC	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN	.	UPI000198CC5A	SNV	MUC20,3_prime_UTR_variant,,ENST00000447234,;MUC20,3_prime_UTR_variant,,ENST00000320736,;MUC20,3_prime_UTR_variant,,ENST00000445522,;MUC20,intron_variant,,ENST00000423938,;MUC20,intron_variant,,ENST00000436408,;LINC00969,non_coding_transcript_exon_variant,,ENST00000594446,;LINC00969,non_coding_transcript_exon_variant,,ENST00000595086,;LINC00969,non_coding_transcript_exon_variant,,ENST00000600197,;LINC00969,downstream_gene_variant,,ENST00000597662,;MUC20,downstream_gene_variant,,ENST00000498018,;	2383	24	21	SUCCESS
MAPKAPK3	7867	.	GRCh37	3	50685633	50685633	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1318637050	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	41	0	ENST00000357955.2:c.*156T>C			ENST00000357955	NM_001243925.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2832.1	.	MUTECT|MUSE	.	GACCCTGACCC	NONE	.	.	.	.	.	ENSP00000396467	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000446044	Transcript	.	.	ENSG00000114738	6888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAPK3_HUMAN	MAPKAPK3	HGNC	C9JPW3_HUMAN,C9J8E1_HUMAN	.	UPI0000073D7E	SNV	MAPKAPK3,3_prime_UTR_variant,,ENST00000451680,;MAPKAPK3,3_prime_UTR_variant,,ENST00000357955,;MAPKAPK3,3_prime_UTR_variant,,ENST00000446044,;MAPKAPK3,downstream_gene_variant,,ENST00000430409,;	1901	41	40	SUCCESS
NFXL1	152518	.	GRCh37	4	47850031	47850031	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	9	0	ENST00000507489.1:c.*149A>T			ENST00000507489	NM_001278624.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3478.2	.	MUTECT|MUSE	.	AAAGTTTAACA	NONE	.	.	.	.	.	ENSP00000422037	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000507489	Transcript	.	.	ENSG00000170448	18726	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NFXL1_HUMAN	NFXL1	HGNC	.	.	UPI000020BC5D	SNV	NFXL1,3_prime_UTR_variant,,ENST00000381538,;NFXL1,3_prime_UTR_variant,,ENST00000507489,;RP11-121C2.2,upstream_gene_variant,,ENST00000563286,;NFXL1,3_prime_UTR_variant,,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000502448,;NFXL1,downstream_gene_variant,,ENST00000511452,;NFXL1,downstream_gene_variant,,ENST00000507131,;NFXL1,downstream_gene_variant,,ENST00000508115,;	3062	9	21	SUCCESS
RUFY1	80230	.	GRCh37	5	179036548	179036549	+	3_prime_UTR_variant	3'UTR	INS	-	-	G	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	22	0	ENST00000319449.4:c.*30dup			ENST00000319449	NM_025158.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4445.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CCTCACGGACA	NONE	.	.	.	.	.	ENSP00000325594	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000319449	Transcript	.	.	ENSG00000176783	19760	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RUFY1_HUMAN	RUFY1	HGNC	.	.	UPI0000D74C3F	insertion	RUFY1,3_prime_UTR_variant,,ENST00000319449,;RUFY1,3_prime_UTR_variant,,ENST00000377001,;RUFY1,3_prime_UTR_variant,,ENST00000437570,;RUFY1,3_prime_UTR_variant,,ENST00000393438,;HNRNPH1,downstream_gene_variant,,ENST00000523449,;HNRNPH1,downstream_gene_variant,,ENST00000329433,;HNRNPH1,downstream_gene_variant,,ENST00000511300,;HNRNPH1,downstream_gene_variant,,ENST00000393432,;HNRNPH1,downstream_gene_variant,,ENST00000442819,;RUFY1,downstream_gene_variant,,ENST00000502434,;HNRNPH1,downstream_gene_variant,,ENST00000356731,;HNRNPH1,downstream_gene_variant,,ENST00000510411,;RUFY1,non_coding_transcript_exon_variant,,ENST00000508797,;HNRNPH1,downstream_gene_variant,,ENST00000515481,;HNRNPH1,downstream_gene_variant,,ENST00000502904,;HNRNPH1,downstream_gene_variant,,ENST00000510678,;HNRNPH1,downstream_gene_variant,,ENST00000514332,;HNRNPH1,downstream_gene_variant,,ENST00000524179,;RUFY1,downstream_gene_variant,,ENST00000502531,;RUFY1,downstream_gene_variant,,ENST00000503583,;	2167-2168	22	23	SUCCESS
BTN3A2	11118	.	GRCh37	6	26376247	26376247	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-DD-AAEI-01	TCGA-DD-AAEI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	14	39	0	ENST00000356386.2:c.*35-510A>T			ENST00000356386	NM_007047.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4605.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTAACACGG	NONE	.	.	.	.	.	ENSP00000348751	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356386	Transcript	.	.	ENSG00000186470	1139	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BT3A2_HUMAN	BTN3A2	HGNC	E9PRX1_HUMAN,E9PRR1_HUMAN	.	UPI000006E484	SNV	BTN3A2,3_prime_UTR_variant,,ENST00000508906,;BTN3A2,3_prime_UTR_variant,,ENST00000377708,;BTN3A2,intron_variant,,ENST00000356386,;BTN3A2,downstream_gene_variant,,ENST00000396934,;BTN3A2,downstream_gene_variant,,ENST00000527639,;BTN3A2,downstream_gene_variant,,ENST00000527417,;BTN3A2,downstream_gene_variant,,ENST00000527422,;BTN3A2,downstream_gene_variant,,ENST00000396948,;BTN3A2,downstream_gene_variant,,ENST00000524682,;BTN3A2,downstream_gene_variant,,ENST00000532627,;BTN3A2,downstream_gene_variant,,ENST00000532994,;BTN3A2,downstream_gene_variant,,ENST00000604202,;BTN3A2,downstream_gene_variant,,ENST00000532294,;BTN3A2,downstream_gene_variant,,ENST00000531055,;	.	39	46	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	28	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	28	15	SUCCESS
SIK2	23235	.	GRCh37	11	111594880	111594880	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	24	0	ENST00000304987.3:c.*27A>C			ENST00000304987	NM_015191.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8347.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCAGGTGA	NONE	.	.	.	.	.	ENSP00000305976	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000304987	Transcript	.	.	ENSG00000170145	21680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIK2_HUMAN	SIK2	HGNC	.	.	UPI000006F406	SNV	SIK2,3_prime_UTR_variant,,ENST00000304987,;PPP2R1B,downstream_gene_variant,,ENST00000426998,;PPP2R1B,downstream_gene_variant,,ENST00000311129,;PPP2R1B,downstream_gene_variant,,ENST00000530787,;SIK2,downstream_gene_variant,,ENST00000533868,;	2981	24	26	SUCCESS
TOX4	9878	.	GRCh37	14	21964917	21964917	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	21	0	ENST00000448790.2:c.*153A>G			ENST00000448790				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32043.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCAGGCTA	NONE	.	.	.	.	.	ENSP00000385102	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000405508	Transcript	.	.	ENSG00000092203	20161	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOX4_HUMAN	TOX4	HGNC	.	.	UPI000006EA81	SNV	TOX4,3_prime_UTR_variant,,ENST00000448790,;TOX4,3_prime_UTR_variant,,ENST00000262709,;TOX4,3_prime_UTR_variant,,ENST00000405508,;METTL3,downstream_gene_variant,,ENST00000298717,;METTL3,downstream_gene_variant,,ENST00000538267,;TOX4,downstream_gene_variant,,ENST00000463119,;TOX4,downstream_gene_variant,,ENST00000455393,;TOX4,downstream_gene_variant,,ENST00000473176,;TOX4,downstream_gene_variant,,ENST00000476180,;METTL3,downstream_gene_variant,,ENST00000544500,;METTL3,downstream_gene_variant,,ENST00000396522,;METTL3,downstream_gene_variant,,ENST00000537163,;METTL3,downstream_gene_variant,,ENST00000543235,;METTL3,downstream_gene_variant,,ENST00000544248,;METTL3,downstream_gene_variant,,ENST00000536201,;METTL3,downstream_gene_variant,,ENST00000542054,;METTL3,downstream_gene_variant,,ENST00000539760,;	2295	21	18	SUCCESS
BRPF1	7862	.	GRCh37	3	9789039	9789039	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs768175694	.	TCGA-DD-AAEK-01	TCGA-DD-AAEK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	17	96	0	ENST00000457855.1:c.*6C>T			ENST00000457855				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33692.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACTGCTCAAC	NONE	.	.	.	.	.	ENSP00000373340	.	14/14	.	.	.	.	.	.	.	.	rs768175694	14/14	PASS	ENST00000383829	Transcript	.	.	ENSG00000156983	14255	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BRPF1_HUMAN	BRPF1	HGNC	C9JHC0_HUMAN,C9JDK5_HUMAN	.	UPI00001A9CA3	SNV	BRPF1,3_prime_UTR_variant,,ENST00000424362,;BRPF1,3_prime_UTR_variant,,ENST00000433861,;BRPF1,3_prime_UTR_variant,,ENST00000302054,;BRPF1,3_prime_UTR_variant,,ENST00000457855,;BRPF1,3_prime_UTR_variant,,ENST00000383829,;OGG1,upstream_gene_variant,,ENST00000349503,;OGG1,upstream_gene_variant,,ENST00000416333,;OGG1,upstream_gene_variant,,ENST00000302036,;OGG1,upstream_gene_variant,,ENST00000426518,;OGG1,upstream_gene_variant,,ENST00000449570,;OGG1,upstream_gene_variant,,ENST00000344629,;OGG1,upstream_gene_variant,,ENST00000339511,;OGG1,upstream_gene_variant,,ENST00000302003,;OGG1,upstream_gene_variant,,ENST00000352937,;OGG1,upstream_gene_variant,,ENST00000441094,;OGG1,upstream_gene_variant,,ENST00000302008,;OGG1,upstream_gene_variant,,ENST00000383826,;OGG1,upstream_gene_variant,,ENST00000383825,;OGG1,upstream_gene_variant,,ENST00000436092,;BRPF1,downstream_gene_variant,,ENST00000469066,;OGG1,upstream_gene_variant,,ENST00000429146,;BRPF1,downstream_gene_variant,,ENST00000497565,;OGG1,upstream_gene_variant,,ENST00000425665,;OGG1,upstream_gene_variant,,ENST00000432857,;	4073	96	106	SUCCESS
TRIM51	84767	.	GRCh37	11	55659167	55659167	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	13	0	ENST00000449290.2:c.*59C>T			ENST00000449290	NM_032681.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AAAGCCCTCTT	NONE	.	.	.	.	.	ENSP00000395086	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000449290	Transcript	.	.	ENSG00000124900	19023	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI51_HUMAN	TRIM51	HGNC	I1YAQ1_HUMAN	.	UPI0000DFFA1E	SNV	TRIM51,3_prime_UTR_variant,,ENST00000449290,;TRIM51,3_prime_UTR_variant,,ENST00000244891,;	1510	13	13	SUCCESS
CCDC176	0	.	GRCh37	14	74531657	74531657	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	65	190	0	ENST00000394009.3:c.*255G>C			ENST00000394009	NM_025057.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32119.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAAGGACAAA	NONE	.	.	.	.	.	ENSP00000377577	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000394009	Transcript	.	.	ENSG00000119636	19855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BBOF1_HUMAN	CCDC176	HGNC	G3V488_HUMAN	.	UPI0000D4A9D0	SNV	CCDC176,3_prime_UTR_variant,,ENST00000394009,;CCDC176,intron_variant,,ENST00000553773,;ALDH6A1,intron_variant,,ENST00000350259,;ALDH6A1,intron_variant,,ENST00000555126,;ALDH6A1,intron_variant,,ENST00000553458,;AC005484.5,intron_variant,,ENST00000492026,;ALDH6A1,intron_variant,,ENST00000554501,;	1968	190	106	SUCCESS
TMCO5A	145942	.	GRCh37	15	38243492	38243492	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1159338514	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	52	0	ENST00000319669.4:c.*57G>A			ENST00000319669	NM_152453.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10046.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAAGGGAGG	NONE	.	.	.	.	.	ENSP00000327234	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000319669	Transcript	.	.	ENSG00000166069	28558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMC5A_HUMAN	TMCO5A	HGNC	H0YLW5_HUMAN,H0YLN2_HUMAN,H0YLD3_HUMAN,H0YL40_HUMAN	.	UPI00001BBFD2	SNV	TMCO5A,3_prime_UTR_variant,,ENST00000319669,;TMCO5A,intron_variant,,ENST00000540944,;TMCO5A,intron_variant,,ENST00000559502,;TMCO5A,downstream_gene_variant,,ENST00000560653,;	1026	52	38	SUCCESS
CXCR2	3579	.	GRCh37	2	219001520	219001520	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	118	45	214	0	ENST00000318507.2:c.*913A>T			ENST00000318507	NM_001557.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGAACCTTG	NONE	.	.	.	.	.	ENSP00000319635	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000318507	Transcript	.	.	ENSG00000180871	6027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCR2_HUMAN	CXCR2	HGNC	Q53PC4_HUMAN,C9JW47_HUMAN,C9JG19_HUMAN,C9J2F9_HUMAN,C9J1J7_HUMAN	.	UPI000004358A	SNV	CXCR2,3_prime_UTR_variant,,ENST00000318507,;CXCR2,downstream_gene_variant,,ENST00000418878,;CXCR2,downstream_gene_variant,,ENST00000428565,;CXCR2,downstream_gene_variant,,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000454148,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000453237,;	2423	214	163	SUCCESS
CNTN3	5067	.	GRCh37	3	74313296	74313296	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	13	0	ENST00000263665.6:c.*256A>T			ENST00000263665	NM_020872.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33790.1	.	MUTECT|MUSE	.	ACTCATAGTTT	NONE	.	.	.	.	.	ENSP00000263665	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000263665	Transcript	.	.	ENSG00000113805	2173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTN3_HUMAN	CNTN3	HGNC	.	.	UPI00001A7974	SNV	CNTN3,3_prime_UTR_variant,,ENST00000263665,;CNTN3,downstream_gene_variant,,ENST00000477856,;	3371	13	18	SUCCESS
NPY2R	4887	.	GRCh37	4	156137303	156137303	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	205	8	224	0	ENST00000329476.3:c.*1066T>C			ENST00000329476	NM_000910.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3791.1	.	MUTECT|MUSE	.	ACCTATCTGTA	NONE	.	.	.	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,3_prime_UTR_variant,,ENST00000506608,;NPY2R,3_prime_UTR_variant,,ENST00000329476,;	2701	224	213	SUCCESS
CPLX2	10814	.	GRCh37	5	175307263	175307263	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	25	0	ENST00000359546.4:c.*215A>C			ENST00000359546	NM_006650.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4396.1	.	MUTECT|MUSE	.	GAAAAAGGGAG	NONE	.	.	.	.	.	ENSP00000352544	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359546	Transcript	.	.	ENSG00000145920	2310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPLX2_HUMAN	CPLX2	HGNC	D6RGY3_HUMAN,D6RDN3_HUMAN,D6RBA5_HUMAN,D6R960_HUMAN	.	UPI0000027525	SNV	CPLX2,3_prime_UTR_variant,,ENST00000359546,;CPLX2,downstream_gene_variant,,ENST00000515094,;CPLX2,downstream_gene_variant,,ENST00000514150,;CPLX2,downstream_gene_variant,,ENST00000509837,;CPLX2,downstream_gene_variant,,ENST00000512824,;CPLX2,downstream_gene_variant,,ENST00000393745,;CPLX2,downstream_gene_variant,,ENST00000515502,;CPLX2,downstream_gene_variant,,ENST00000502265,;CPLX2,downstream_gene_variant,,ENST00000515025,;	1263	25	30	SUCCESS
C6orf201	404220	.	GRCh37	6	4130968	4130968	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs771209268	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	23	47	0	ENST00000380175.4:c.*429A>T			ENST00000380175	NM_001085401.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTACAGCAAA	NONE	byFrequency	.	.	.	.	ENSP00000420610	.	6/6	.	.	.	.	.	.	.	.	rs771209268	6/6	PASS	ENST00000380175	Transcript	.	.	ENSG00000185689	21620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF201_HUMAN	C6orf201	HGNC	.	.	UPI00004573AE	SNV	C6orf201,3_prime_UTR_variant,,ENST00000333388,;C6orf201,3_prime_UTR_variant,,ENST00000380175,;ECI2,intron_variant,,ENST00000380118,;ECI2,intron_variant,,ENST00000380125,;ECI2,intron_variant,,ENST00000465828,;ECI2,intron_variant,,ENST00000495548,;ECI2,intron_variant,,ENST00000413766,;ECI2,intron_variant,,ENST00000361538,;RP3-400B16.4,upstream_gene_variant,,ENST00000527831,;C6orf201,downstream_gene_variant,,ENST00000496987,;C6orf201,3_prime_UTR_variant,,ENST00000436110,;C6orf201,3_prime_UTR_variant,,ENST00000427996,;ECI2,intron_variant,,ENST00000380120,;ECI2,intron_variant,,ENST00000464583,;ECI2,intron_variant,,ENST00000478266,;ECI2,intron_variant,,ENST00000464057,;ECI2,intron_variant,,ENST00000489086,;ECI2,intron_variant,,ENST00000496241,;C6orf201,downstream_gene_variant,,ENST00000451679,;	1617	47	55	SUCCESS
NEUROD6	63974	.	GRCh37	7	31377778	31377778	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	26	0	ENST00000297142.3:c.*91C>G			ENST00000297142	NM_022728.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5434.1	.	MUTECT|MUSE	.	AGATAGAGTTG	NONE	.	.	.	.	.	ENSP00000297142	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297142	Transcript	.	.	ENSG00000164600	13804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDF6_HUMAN	NEUROD6	HGNC	.	.	UPI000000D77D	SNV	NEUROD6,3_prime_UTR_variant,,ENST00000297142,;	1428	26	26	SUCCESS
KCTD9	54793	.	GRCh37	8	25287265	25287265	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs183817821	.	TCGA-DD-AAVP-01	TCGA-DD-AAVP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	4	95	0	ENST00000221200.4:c.*108T>A			ENST00000221200	NM_017634.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6048.1	.	MUTECT|MUSE	.	TTTTTAAATTT	NONE	by1000G	.	.	.	.	ENSP00000221200	.	12/12	.	.	.	.	.	.	.	.	rs183817821	12/12	PASS	ENST00000221200	Transcript	.	.	ENSG00000104756	22401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCTD9_HUMAN	KCTD9	HGNC	K7ENB5_HUMAN	.	UPI00001540AF	SNV	KCTD9,3_prime_UTR_variant,,ENST00000221200,;RP11-395I14.2,upstream_gene_variant,,ENST00000523840,;KCTD9,3_prime_UTR_variant,,ENST00000519665,;	1499	95	50	SUCCESS
NUDT13	25961	.	GRCh37	10	74890728	74890728	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	23	0	ENST00000357321.4:c.*67A>G			ENST00000357321	NM_015901.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACAAAGGAGA	NONE	.	.	.	.	.	ENSP00000349874	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000357321	Transcript	.	.	ENSG00000166321	18827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUD13_HUMAN	NUDT13	HGNC	B4E059_HUMAN,B4DV90_HUMAN	.	UPI000004E996	SNV	NUDT13,3_prime_UTR_variant,,ENST00000372997,;NUDT13,3_prime_UTR_variant,,ENST00000544879,;NUDT13,3_prime_UTR_variant,,ENST00000349051,;NUDT13,3_prime_UTR_variant,,ENST00000357321,;ECD,intron_variant,,ENST00000494307,;ECD,downstream_gene_variant,,ENST00000430082,;NUDT13,downstream_gene_variant,,ENST00000537969,;ECD,downstream_gene_variant,,ENST00000372979,;ECD,downstream_gene_variant,,ENST00000454759,;SNORA11,upstream_gene_variant,,ENST00000408237,;NUDT13,non_coding_transcript_exon_variant,,ENST00000488223,;ECD,downstream_gene_variant,,ENST00000484976,;	1244	23	29	SUCCESS
PCDH20	64881	.	GRCh37	13	61985239	61985239	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	18	67	1	ENST00000409186.1:c.*137A>G			ENST00000409186				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9442.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCTGTAAACA	NONE	.	.	.	.	.	ENSP00000386653	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000409186	Transcript	.	.	ENSG00000197991	14257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD20_HUMAN	PCDH20	HGNC	B3KSZ7_HUMAN	.	UPI000007371F	SNV	PCDH20,3_prime_UTR_variant,,ENST00000409204,;PCDH20,3_prime_UTR_variant,,ENST00000409186,;	5099	68	56	SUCCESS
MBP	4155	.	GRCh37	18	74692266	74692266	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	8	33	0	ENST00000355994.2:c.*117C>T			ENST00000355994	NM_001025101.1			0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|MUSE	.	ACTCCGCAGGC	NONE	.	1402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000582546	Transcript	.	.	ENSG00000266844	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP11-862L9.3	Clone_based_vega_gene	.	.	.	SNV	MBP,3_prime_UTR_variant,,ENST00000397866,;MBP,3_prime_UTR_variant,,ENST00000528160,;MBP,3_prime_UTR_variant,,ENST00000397865,;MBP,3_prime_UTR_variant,,ENST00000382582,;MBP,3_prime_UTR_variant,,ENST00000359645,;MBP,3_prime_UTR_variant,,ENST00000397875,;MBP,3_prime_UTR_variant,,ENST00000355994,;MBP,3_prime_UTR_variant,,ENST00000397869,;MBP,3_prime_UTR_variant,,ENST00000585201,;MBP,intron_variant,,ENST00000527041,;MBP,downstream_gene_variant,,ENST00000578193,;MBP,downstream_gene_variant,,ENST00000354542,;MBP,downstream_gene_variant,,ENST00000580402,;MBP,downstream_gene_variant,,ENST00000447114,;MBP,downstream_gene_variant,,ENST00000526111,;MBP,downstream_gene_variant,,ENST00000579129,;RP11-862L9.3,intron_variant,,ENST00000582763,;RP11-862L9.3,downstream_gene_variant,,ENST00000583889,;RP11-862L9.3,upstream_gene_variant,,ENST00000582546,;RP11-862L9.3,upstream_gene_variant,,ENST00000580580,;RP11-862L9.3,downstream_gene_variant,,ENST00000583326,;RP11-862L9.3,downstream_gene_variant,,ENST00000577364,;MBP,non_coding_transcript_exon_variant,,ENST00000578715,;MBP,downstream_gene_variant,,ENST00000581179,;MBP,downstream_gene_variant,,ENST00000585216,;MBP,downstream_gene_variant,,ENST00000580473,;MBP,downstream_gene_variant,,ENST00000582282,;MBP,3_prime_UTR_variant,,ENST00000527975,;MBP,3_prime_UTR_variant,,ENST00000577755,;MBP,non_coding_transcript_exon_variant,,ENST00000490319,;MBP,downstream_gene_variant,,ENST00000473302,;MBP,downstream_gene_variant,,ENST00000493623,;MBP,downstream_gene_variant,,ENST00000397868,;MBP,downstream_gene_variant,,ENST00000583474,;MBP,downstream_gene_variant,,ENST00000533278,;MBP,downstream_gene_variant,,ENST00000483025,;MBP,downstream_gene_variant,,ENST00000531144,;	.	33	33	SUCCESS
FCGR2C	9103	.	GRCh37	1	161560935	161560935	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs551068879	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	458	41	281	0				ENST00000543859				0	.	A:0	.	A:0	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	TCAGAGTGGCT	NONE	by1000G	4408	.	A:0.001	.	ENSP00000444663	A:0	.	.	.	.	.	.	.	.	.	rs551068879	.	PASS	ENST00000543859	Transcript	.	A:0.0002	ENSG00000244682	15626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	.	FCGR2C	HGNC	Q8TEX8_HUMAN	.	UPI000006E0EC	SNV	FCGR2B,intron_variant,,ENST00000403078,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000428605,;FCGR2B,intron_variant,,ENST00000367962,;FCGR3A,intron_variant,,ENST00000540048,;FCGR2C,upstream_gene_variant,,ENST00000543859,;FCGR2C,splice_region_variant,,ENST00000473530,;FCGR2C,splice_region_variant,,ENST00000482226,;FCGR2C,splice_region_variant,,ENST00000473712,;FCGR2C,splice_region_variant,,ENST00000465075,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2C,downstream_gene_variant,,ENST00000502411,;FCGR2C,upstream_gene_variant,,ENST00000507374,;FCGR2C,upstream_gene_variant,,ENST00000467903,;FCGR2C,downstream_gene_variant,,ENST00000496692,;FCGR2C,synonymous_variant,p.%3D,ENST00000466542,;	.	282	500	SUCCESS
UBE2D3	7323	.	GRCh37	4	103718541	103718541	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	40	0	ENST00000321805.7:c.*31A>G			ENST00000321805	NM_181887.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3659.1	.	MUTECT|MUSE	.	AGCTATAATGC	NONE	.	.	.	.	.	ENSP00000349722	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000357194	Transcript	.	.	ENSG00000109332	12476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UB2D3_HUMAN	UBE2D3	HGNC	D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN	.	UPI00001B31EA	SNV	UBE2D3,3_prime_UTR_variant,,ENST00000453744,;UBE2D3,3_prime_UTR_variant,,ENST00000321805,;UBE2D3,3_prime_UTR_variant,,ENST00000349311,;UBE2D3,3_prime_UTR_variant,,ENST00000505207,;UBE2D3,3_prime_UTR_variant,,ENST00000357194,;UBE2D3,3_prime_UTR_variant,,ENST00000343106,;UBE2D3,3_prime_UTR_variant,,ENST00000338145,;UBE2D3,3_prime_UTR_variant,,ENST00000350435,;UBE2D3,3_prime_UTR_variant,,ENST00000394804,;UBE2D3,3_prime_UTR_variant,,ENST00000394801,;UBE2D3,3_prime_UTR_variant,,ENST00000504211,;UBE2D3,3_prime_UTR_variant,,ENST00000394803,;UBE2D3,downstream_gene_variant,,ENST00000508238,;UBE2D3,downstream_gene_variant,,ENST00000502690,;UBE2D3,downstream_gene_variant,,ENST00000502404,;UBE2D3,downstream_gene_variant,,ENST00000508476,;UBE2D3,downstream_gene_variant,,ENST00000507845,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508474,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503742,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000505009,;UBE2D3,downstream_gene_variant,,ENST00000505307,;UBE2D3,downstream_gene_variant,,ENST00000508635,;UBE2D3,downstream_gene_variant,,ENST00000510599,;UBE2D3,downstream_gene_variant,,ENST00000508974,;UBE2D3,downstream_gene_variant,,ENST00000508818,;UBE2D3,downstream_gene_variant,,ENST00000502563,;UBE2D3,downstream_gene_variant,,ENST00000514755,;UBE2D3,downstream_gene_variant,,ENST00000510129,;	633	40	54	SUCCESS
ZFP41	286128	.	GRCh37	8	144344194	144344194	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs868861185	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	17	0	ENST00000330701.4:c.*3150T>C			ENST00000330701	NM_173832.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6397.1	.	SOMATICSNIPER|VARSCANS	.	CTGCCTGCACC	NONE	.	.	.	.	.	ENSP00000327427	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000330701	Transcript	.	.	ENSG00000181638	26786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZFP41_HUMAN	ZFP41	HGNC	.	.	UPI0000070522	SNV	ZFP41,3_prime_UTR_variant,,ENST00000330701,;ZFP41,intron_variant,,ENST00000522452,;	4116	17	19	SUCCESS
TLE4	7091	.	GRCh37	9	82340070	82340070	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAVQ-01	TCGA-DD-AAVQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	50	0	ENST00000376552.2:c.*11T>A			ENST00000376552	NM_007005.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43837.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTTCATGC	NONE	.	.	.	.	.	ENSP00000365735	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000376552	Transcript	.	.	ENSG00000106829	11840	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLE4_HUMAN	TLE4	HGNC	B3KQ29_HUMAN	.	UPI00001CE3BA	SNV	TLE4,3_prime_UTR_variant,,ENST00000376534,;TLE4,3_prime_UTR_variant,,ENST00000376552,;TLE4,3_prime_UTR_variant,,ENST00000376537,;TLE4,3_prime_UTR_variant,,ENST00000376544,;TLE4,3_prime_UTR_variant,,ENST00000376520,;TLE4,3_prime_UTR_variant,,ENST00000265284,;TLE4,downstream_gene_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;RP11-79D8.2,upstream_gene_variant,,ENST00000440700,;	3351	50	50	SUCCESS
TRUB1	142940	.	GRCh37	10	116735283	116735283	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	11	0	ENST00000298746.3:c.*145A>G			ENST00000298746	NM_139169.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7591.1	.	MUTECT|MUSE	.	TCAATAGCACA	NONE	.	.	.	.	.	ENSP00000298746	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000298746	Transcript	.	.	ENSG00000165832	16060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRUB1_HUMAN	TRUB1	HGNC	B4DZ90_HUMAN,B3KWQ1_HUMAN	.	UPI000006DEBE	SNV	TRUB1,3_prime_UTR_variant,,ENST00000298746,;	1256	11	12	SUCCESS
POLR2G	5436	.	GRCh37	11	62534045	62534045	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	19	58	0	ENST00000301788.7:c.*66C>G			ENST00000301788	NM_002696.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31585.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTCCAGAGG	NONE	.	.	.	.	.	ENSP00000301788	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000301788	Transcript	.	.	ENSG00000168002	9194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RPB7_HUMAN	POLR2G	HGNC	E9PIU7_HUMAN	.	UPI000002926B	SNV	POLR2G,3_prime_UTR_variant,,ENST00000301788,;POLR2G,downstream_gene_variant,,ENST00000533442,;TAF6L,upstream_gene_variant,,ENST00000526261,;TAF6L,upstream_gene_variant,,ENST00000294168,;RP11-727F15.11,downstream_gene_variant,,ENST00000596071,;POLR2G,3_prime_UTR_variant,,ENST00000524819,;POLR2G,3_prime_UTR_variant,,ENST00000525455,;POLR2G,3_prime_UTR_variant,,ENST00000531944,;POLR2G,non_coding_transcript_exon_variant,,ENST00000526368,;POLR2G,non_coding_transcript_exon_variant,,ENST00000527435,;POLR2G,downstream_gene_variant,,ENST00000531996,;TAF6L,upstream_gene_variant,,ENST00000524976,;TAF6L,upstream_gene_variant,,ENST00000525405,;TAF6L,upstream_gene_variant,,ENST00000532915,;	690	58	54	SUCCESS
ASIC2	40	.	GRCh37	17	31340841	31340841	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	20	0	ENST00000359872.6:c.*142C>T			ENST00000359872	NM_001094.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11276.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTAGGCAGC	NONE	.	.	.	.	.	ENSP00000225823	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000225823	Transcript	.	.	ENSG00000108684	99	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASIC2_HUMAN	ASIC2	HGNC	B3KXQ3_HUMAN	.	UPI000013C881	SNV	ASIC2,3_prime_UTR_variant,,ENST00000225823,;ASIC2,3_prime_UTR_variant,,ENST00000359872,;	2707	20	22	SUCCESS
RNF115	27246	.	GRCh37	1	145688244	145688244	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	12	103	0	ENST00000369291.5:c.*24G>A			ENST00000369291	NM_014455.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS922.1	.	MUTECT|MUSE	.	AATCAGGGCTG	NONE	.	.	.	.	.	ENSP00000358297	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000369291	Transcript	.	.	ENSG00000121848	18154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN115_HUMAN	RNF115	HGNC	.	.	UPI00001B061B	SNV	RNF115,3_prime_UTR_variant,,ENST00000369291,;RNF115,downstream_gene_variant,,ENST00000539368,;	1143	103	74	SUCCESS
ADAMTSL4	54507	.	GRCh37	1	150532681	150532681	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs888166851	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	15	59	0	ENST00000271643.4:c.*9C>T			ENST00000271643	NM_019032.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS955.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCGGGGC	NONE	.	.	.	.	.	ENSP00000271643	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000271643	Transcript	.	.	ENSG00000143382	19706	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATL4_HUMAN	ADAMTSL4	HGNC	Q9UFG7_HUMAN,A8KAH2_HUMAN	.	UPI00001E0572	SNV	ADAMTSL4,3_prime_UTR_variant,,ENST00000271643,;ADAMTSL4,3_prime_UTR_variant,,ENST00000369038,;ADAMTSL4,3_prime_UTR_variant,,ENST00000369039,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;	3470	59	60	SUCCESS
FAM84A	0	.	GRCh37	2	14776342	14776342	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	10	53	0	ENST00000295092.2:c.*1360T>A			ENST00000295092	NM_145175.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTTAATTA	NONE	.	.	.	.	.	ENSP00000295092	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295092	Transcript	.	.	ENSG00000162981	20743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA84A_HUMAN	FAM84A	HGNC	.	.	UPI000013E203	SNV	FAM84A,3_prime_UTR_variant,,ENST00000331243,;FAM84A,3_prime_UTR_variant,,ENST00000295092,;AC011897.1,intron_variant,,ENST00000581929,;FAM84A,intron_variant,,ENST00000464947,;FAM84A,intron_variant,,ENST00000497769,;	2527	53	48	SUCCESS
MEPCE	56257	.	GRCh37	7	100031225	100031225	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	23	60	0	ENST00000310512.2:c.*48A>G			ENST00000310512	NM_019606.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5693.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCATAAGGAC	NONE	.	.	.	.	.	ENSP00000308546	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000310512	Transcript	.	.	ENSG00000146834	20247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MEPCE_HUMAN	MEPCE	HGNC	.	.	UPI0000227DFA	SNV	MEPCE,3_prime_UTR_variant,,ENST00000414441,;MEPCE,3_prime_UTR_variant,,ENST00000310512,;ZCWPW1,upstream_gene_variant,,ENST00000360951,;ZCWPW1,upstream_gene_variant,,ENST00000398027,;ZCWPW1,upstream_gene_variant,,ENST00000324725,;PPP1R35,downstream_gene_variant,,ENST00000292330,;ZCWPW1,upstream_gene_variant,,ENST00000472716,;RP11-758P17.3,upstream_gene_variant,,ENST00000475250,;RP11-758P17.2,upstream_gene_variant,,ENST00000492523,;PPP1R35,downstream_gene_variant,,ENST00000476185,;MEPCE,downstream_gene_variant,,ENST00000497759,;PPP1R35,downstream_gene_variant,,ENST00000487452,;PPP1R35,downstream_gene_variant,,ENST00000491407,;ZCWPW1,upstream_gene_variant,,ENST00000464510,;PPP1R35,downstream_gene_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;	2506	60	62	SUCCESS
EPHB4	2050	.	GRCh37	7	100401052	100401052	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs199872533	.	TCGA-DD-AAVR-01	TCGA-DD-AAVR-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	11	40	0	ENST00000358173.3:c.*31G>A			ENST00000358173	NM_004444.4			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS5706.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGCGGTGT	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000350896	T:0	17/17	.	.	.	.	.	.	.	.	rs199872533	17/17	PASS	ENST00000358173	Transcript	.	T:0.0002	ENSG00000196411	3395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	EPHB4_HUMAN	EPHB4	HGNC	Q541P7_HUMAN	.	UPI0000000DBB	SNV	EPHB4,3_prime_UTR_variant,,ENST00000358173,;EPHB4,3_prime_UTR_variant,,ENST00000360620,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,downstream_gene_variant,,ENST00000467515,;EPHB4,downstream_gene_variant,,ENST00000478459,;EPHB4,downstream_gene_variant,,ENST00000492403,;	3464	40	39	SUCCESS
PSTPIP1	9051	.	GRCh37	15	77329562	77329562	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	43	0	ENST00000558012.1:c.*45A>T			ENST00000558012	NM_003978.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45312.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCCAGCAGT	NONE	.	.	.	.	.	ENSP00000452746	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000558012	Transcript	1	.	ENSG00000140368	9580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPIP1_HUMAN	PSTPIP1	HGNC	.	.	UPI00000703D7	SNV	PSTPIP1,3_prime_UTR_variant,,ENST00000267939,;PSTPIP1,3_prime_UTR_variant,,ENST00000559295,;PSTPIP1,3_prime_UTR_variant,,ENST00000558012,;PSTPIP1,3_prime_UTR_variant,,ENST00000558870,;PSTPIP1,3_prime_UTR_variant,,ENST00000379595,;PSTPIP1,downstream_gene_variant,,ENST00000559856,;RP11-797A18.4,downstream_gene_variant,,ENST00000569742,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000557995,;PSTPIP1,3_prime_UTR_variant,,ENST00000559785,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560064,;PSTPIP1,downstream_gene_variant,,ENST00000560223,;PSTPIP1,downstream_gene_variant,,ENST00000560377,;	1785	43	28	SUCCESS
PALMD	54873	.	GRCh37	1	100159890	100159890	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1255681797	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	22	36	0	ENST00000263174.4:c.*272A>G			ENST00000263174	NM_017734.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS758.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTAATAAGA	NONE	.	.	.	.	.	ENSP00000263174	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000263174	Transcript	.	.	ENSG00000099260	15846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PALMD_HUMAN	PALMD	HGNC	.	.	UPI000006DDD8	SNV	PALMD,3_prime_UTR_variant,,ENST00000263174,;PALMD,downstream_gene_variant,,ENST00000605497,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;HMGB3P10,upstream_gene_variant,,ENST00000434734,;	2303	36	57	SUCCESS
MTFR1L	56181	.	GRCh37	1	26158566	26158566	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1399218869	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	23	50	0	ENST00000374300.3:c.*49A>G			ENST00000374300	NM_001099626.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41284.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCAATAGCT	NONE	.	.	.	.	.	ENSP00000363419	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000374301	Transcript	.	.	ENSG00000117640	28836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MFR1L_HUMAN	MTFR1L	HGNC	E9PSD6_HUMAN,E9PRW1_HUMAN,E9PPQ0_HUMAN,E9PPF9_HUMAN,E9PLU1_HUMAN,E9PLD2_HUMAN,C9JF50_HUMAN	.	UPI000006D344	SNV	MTFR1L,3_prime_UTR_variant,,ENST00000374307,;MTFR1L,3_prime_UTR_variant,,ENST00000374301,;MTFR1L,3_prime_UTR_variant,,ENST00000466284,;MTFR1L,3_prime_UTR_variant,,ENST00000374303,;AUNIP,3_prime_UTR_variant,,ENST00000538789,;MTFR1L,3_prime_UTR_variant,,ENST00000474295,;MTFR1L,3_prime_UTR_variant,,ENST00000524618,;MTFR1L,3_prime_UTR_variant,,ENST00000374300,;MTFR1L,downstream_gene_variant,,ENST00000526894,;AUNIP,downstream_gene_variant,,ENST00000374298,;MTFR1L,downstream_gene_variant,,ENST00000472643,;MTFR1L,downstream_gene_variant,,ENST00000526158,;MTFR1L,downstream_gene_variant,,ENST00000424294,;RP1-317E23.7,non_coding_transcript_exon_variant,,ENST00000606617,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000469815,;AUNIP,downstream_gene_variant,,ENST00000481602,;MTFR1L,downstream_gene_variant,,ENST00000531361,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000497956,;MTFR1L,downstream_gene_variant,,ENST00000464008,;MTFR1L,downstream_gene_variant,,ENST00000478284,;	1236	50	34	SUCCESS
HEATR5B	54497	.	GRCh37	2	37208530	37208530	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	13	27	0	ENST00000233099.5:c.*103A>G			ENST00000233099	NM_019024.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33181.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAATATACA	NONE	.	.	.	.	.	ENSP00000233099	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000233099	Transcript	.	.	ENSG00000008869	29273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HTR5B_HUMAN	HEATR5B	HGNC	.	.	UPI0000160DCD	SNV	HEATR5B,3_prime_UTR_variant,,ENST00000233099,;HEATR5B,3_prime_UTR_variant,,ENST00000354531,;HEATR5B,intron_variant,,ENST00000425467,;	6415	27	33	SUCCESS
MRPL35	51318	.	GRCh37	2	86439441	86439441	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1573974283	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	24	48	0	ENST00000337109.4:c.*1650A>G			ENST00000337109	NM_016622.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1988.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTTATGGGA	NONE	.	.	.	.	.	ENSP00000338389	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000337109	Transcript	.	.	ENSG00000132313	14489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM35_HUMAN	MRPL35	HGNC	.	.	UPI000004A028	SNV	MRPL35,3_prime_UTR_variant,,ENST00000337109,;MRPL35,intron_variant,,ENST00000409180,;MRPL35,intron_variant,,ENST00000254644,;REEP1,downstream_gene_variant,,ENST00000538924,;REEP1,downstream_gene_variant,,ENST00000541910,;REEP1,downstream_gene_variant,,ENST00000535845,;REEP1,downstream_gene_variant,,ENST00000540790,;MRPL35,downstream_gene_variant,,ENST00000605125,;REEP1,downstream_gene_variant,,ENST00000165698,;	2251	48	63	SUCCESS
UMPS	7372	.	GRCh37	3	124463106	124463106	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	11	0	ENST00000232607.2:c.*175A>G			ENST00000232607	NM_000373.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTAATCACC	NONE	.	.	.	.	.	ENSP00000232607	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000232607	Transcript	.	.	ENSG00000114491	12563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UMPS_HUMAN	UMPS	HGNC	B5LY64_HUMAN,A8K5J1_HUMAN	.	UPI0000001223	SNV	UMPS,3_prime_UTR_variant,,ENST00000536109,;UMPS,3_prime_UTR_variant,,ENST00000538242,;UMPS,3_prime_UTR_variant,,ENST00000232607,;UMPS,3_prime_UTR_variant,,ENST00000413078,;RP11-71H17.9,upstream_gene_variant,,ENST00000608154,;UMPS,downstream_gene_variant,,ENST00000495751,;UMPS,3_prime_UTR_variant,,ENST00000474588,;UMPS,3_prime_UTR_variant,,ENST00000462091,;UMPS,3_prime_UTR_variant,,ENST00000479719,;UMPS,3_prime_UTR_variant,,ENST00000497791,;UMPS,3_prime_UTR_variant,,ENST00000467167,;UMPS,3_prime_UTR_variant,,ENST00000460034,;UMPS,downstream_gene_variant,,ENST00000487622,;	1724	11	16	SUCCESS
RNF128	79589	.	GRCh37	X	106039134	106039134	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVS-01	TCGA-DD-AAVS-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	22	22	0	ENST00000255499.2:c.*191A>G			ENST00000255499	NM_194463.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14521.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTATAATA	NONE	.	.	.	.	.	ENSP00000255499	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000255499	Transcript	.	.	ENSG00000133135	21153	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN128_HUMAN	RNF128	HGNC	A0PJI4_HUMAN	.	UPI0000046A7A	SNV	RNF128,3_prime_UTR_variant,,ENST00000255499,;RNF128,3_prime_UTR_variant,,ENST00000324342,;	1728	22	26	SUCCESS
CYP2E1	1571	.	GRCh37	10	135352494	135352494	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	39	67	0	ENST00000252945.3:c.*26C>T			ENST00000252945	NM_000773.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7686.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCCGCTT	NONE	.	.	.	.	.	ENSP00000440689	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000463117	Transcript	.	.	ENSG00000130649	2631	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CP2E1_HUMAN	CYP2E1	HGNC	Q4LBD0_HUMAN,F5H694_HUMAN	.	UPI0000128291	SNV	CYP2E1,3_prime_UTR_variant,,ENST00000463117,;CYP2E1,3_prime_UTR_variant,,ENST00000252945,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,downstream_gene_variant,,ENST00000418356,;CYP2E1,downstream_gene_variant,,ENST00000421586,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000469258,;CYP2E1,intron_variant,,ENST00000368520,;CYP2E1,downstream_gene_variant,,ENST00000541080,;	1780	67	69	SUCCESS
LHX8	431707	.	GRCh37	1	75626757	75626757	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	18	0	ENST00000294638.5:c.*177T>G			ENST00000294638	NM_001001933.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30756.1	.	MUTECT|MUSE	.	AATTCTTCATT	NONE	.	.	.	.	.	ENSP00000294638	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,3_prime_UTR_variant,,ENST00000356261,;LHX8,3_prime_UTR_variant,,ENST00000294638,;LHX8,non_coding_transcript_exon_variant,,ENST00000607240,;	1912	18	22	SUCCESS
EVI5	7813	.	GRCh37	1	92979087	92979124	+	3_prime_UTR_variant	3'UTR	DEL	TATATATATATATATATATATATATATATATATATATG	TATATATATATATATATATATATATATATATATATATG	-	rs941118619	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	TATATATATATATATATATATATATATATATATATATG	TATATATATATATATATATATATATATATATATATATG	.	.	.	.	.	.	.	.	.	.	.	.	.	5	18	18	0	ENST00000370331.1:c.*89_*126del			ENST00000370331	NM_005665.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30774.1	.	INDELOCATOR|VARSCANI	.	TATATATATATATATATATATATATATATATATATATATATATGTACAT	NONE	.	.	.	.	.	ENSP00000359356	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000370331	Transcript	.	.	ENSG00000067208	3501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EVI5_HUMAN	EVI5	HGNC	.	.	UPI0000470AFE	deletion	EVI5,splice_acceptor_variant,,ENST00000540033,;EVI5,3_prime_UTR_variant,,ENST00000370331,;EVI5,downstream_gene_variant,,ENST00000543509,;	2532-2569	18	23	SUCCESS
PRND	23627	.	GRCh37	20	4707904	4707904	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	80	57	151	0	ENST00000305817.2:c.*2176T>C			ENST00000305817	NM_012409.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13081.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAGTCCCGG	NONE	.	.	.	.	.	ENSP00000306900	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305817	Transcript	.	.	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,3_prime_UTR_variant,,ENST00000305817,;PRNT,downstream_gene_variant,,ENST00000418528,;PRNT,downstream_gene_variant,,ENST00000423718,;PRNT,downstream_gene_variant,,ENST00000326539,;	2778	151	138	SUCCESS
CCR4	1233	.	GRCh37	3	32996071	32996071	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	74	0	ENST00000330953.5:c.*74A>T			ENST00000330953	NM_005508.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2656.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTAAGAGAT	NONE	.	.	.	.	.	ENSP00000332659	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330953	Transcript	.	.	ENSG00000183813	1605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR4_HUMAN	CCR4	HGNC	A0N0Q1_HUMAN	.	UPI000002DFE9	SNV	CCR4,3_prime_UTR_variant,,ENST00000330953,;	1325	74	62	SUCCESS
NSUN7	79730	.	GRCh37	4	40810960	40810960	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	19	0	ENST00000381782.2:c.*4T>C			ENST00000381782	NM_024677.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3461.2	.	RADIA|MUTECT|MUSE	.	GATTGTCTTGT	NONE	.	.	.	.	.	ENSP00000371201	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000381782	Transcript	.	.	ENSG00000179299	25857	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NSUN7_HUMAN	NSUN7	HGNC	B4E1Z6_HUMAN	.	UPI000066D9E8	SNV	NSUN7,3_prime_UTR_variant,,ENST00000381782,;NSUN7,3_prime_UTR_variant,,ENST00000316607,;APBB2,downstream_gene_variant,,ENST00000543538,;APBB2,downstream_gene_variant,,ENST00000295974,;RP11-632F7.3,upstream_gene_variant,,ENST00000513127,;NSUN7,downstream_gene_variant,,ENST00000423784,;NSUN7,downstream_gene_variant,,ENST00000478857,;	2656	19	13	SUCCESS
GCNT1	2650	.	GRCh37	9	79118698	79118698	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAVU-01	TCGA-DD-AAVU-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	28	63	0	ENST00000376730.4:c.*114A>C			ENST00000376730	NM_001490.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6653.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGGACTCTA	NONE	.	.	.	.	.	ENSP00000415454	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000442371	Transcript	.	.	ENSG00000187210	4203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GCNT1_HUMAN	GCNT1	HGNC	.	.	UPI000013CF63	SNV	GCNT1,3_prime_UTR_variant,,ENST00000376730,;GCNT1,3_prime_UTR_variant,,ENST00000442371,;GCNT1,3_prime_UTR_variant,,ENST00000444201,;GCNT1,downstream_gene_variant,,ENST00000536223,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	2340	63	38	SUCCESS
SNX19	399979	.	GRCh37	11	130748193	130748193	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	28	0	ENST00000265909.4:c.*124T>A			ENST00000265909	NM_014758.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31721.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGAGCCAC	NONE	.	.	.	.	.	ENSP00000265909	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000265909	Transcript	.	.	ENSG00000120451	21532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNX19_HUMAN	SNX19	HGNC	E9PLV3_HUMAN,E9PJV7_HUMAN	.	UPI000013D6A5	SNV	SNX19,3_prime_UTR_variant,,ENST00000534726,;SNX19,3_prime_UTR_variant,,ENST00000426933,;SNX19,3_prime_UTR_variant,,ENST00000265909,;SNX19,3_prime_UTR_variant,,ENST00000545537,;SNX19,downstream_gene_variant,,ENST00000528555,;SNX19,downstream_gene_variant,,ENST00000539184,;SNX19,downstream_gene_variant,,ENST00000530356,;SNX19,non_coding_transcript_exon_variant,,ENST00000533318,;SNX19,non_coding_transcript_exon_variant,,ENST00000526579,;SNX19,non_coding_transcript_exon_variant,,ENST00000530330,;SNX19,non_coding_transcript_exon_variant,,ENST00000527116,;	3673	28	30	SUCCESS
C12orf40	283461	.	GRCh37	12	40115156	40115156	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	65	0	ENST00000324616.5:c.*103G>A			ENST00000324616	NM_001031748.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41770.1	.	MUTECT|MUSE	.	AAGTAGCTAAG	NONE	.	.	.	.	.	ENSP00000317671	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000324616	Transcript	.	.	ENSG00000180116	26846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CL040_HUMAN	C12orf40	HGNC	.	.	UPI000069A925	SNV	C12orf40,3_prime_UTR_variant,,ENST00000324616,;C12orf40,intron_variant,,ENST00000468200,;	2216	65	55	SUCCESS
PIBF1	10464	.	GRCh37	13	73590121	73590121	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	66	0	ENST00000326291.6:c.*64A>C			ENST00000326291	NM_006346.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31991.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAACAAAA	NONE	.	.	.	.	.	ENSP00000317144	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000326291	Transcript	.	.	ENSG00000083535	23352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIBF1_HUMAN	PIBF1	HGNC	.	.	UPI00001418B9	SNV	PIBF1,3_prime_UTR_variant,,ENST00000326291,;PIBF1,non_coding_transcript_exon_variant,,ENST00000469712,;PIBF1,non_coding_transcript_exon_variant,,ENST00000489922,;	2676	66	43	SUCCESS
GABRB3	2562	.	GRCh37	15	27018789	27018789	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	22	121	0				ENST00000311550	NM_000814.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10019.1	.	RADIA|MUSE	.	CGCCTCACCTG	NONE	.	568	.	.	.	ENSP00000308725	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311550	Transcript	1	.	ENSG00000166206	4083	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBRB3_HUMAN	GABRB3	HGNC	G3V5B4_HUMAN	.	UPI000012AFB0	SNV	GABRB3,splice_region_variant,,ENST00000299267,;GABRB3,intron_variant,,ENST00000541819,;GABRB3,upstream_gene_variant,,ENST00000311550,;GABRB3,splice_region_variant,,ENST00000554722,;GABRB3,intron_variant,,ENST00000557641,;GABRB3,upstream_gene_variant,,ENST00000554556,;GABRB3,upstream_gene_variant,,ENST00000555632,;	.	121	98	SUCCESS
CTBS	1486	.	GRCh37	1	85018788	85018788	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	623	31	617	1	ENST00000370630.5:c.*1894T>C			ENST00000370630	NM_004388.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS698.1	.	MUTECT|MUSE	.	AATACATCTCT	NONE	.	.	.	.	.	ENSP00000359664	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370630	Transcript	.	.	ENSG00000117151	2496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DIAC_HUMAN	CTBS	HGNC	.	.	UPI00001293CB	SNV	CTBS,3_prime_UTR_variant,,ENST00000370630,;SPATA1,non_coding_transcript_exon_variant,,ENST00000460286,;CTBS,downstream_gene_variant,,ENST00000477677,;SPATA1,downstream_gene_variant,,ENST00000431031,;SPATA1,downstream_gene_variant,,ENST00000490879,;CTBS,downstream_gene_variant,,ENST00000465118,;CTBS,downstream_gene_variant,,ENST00000370625,;SPATA1,non_coding_transcript_exon_variant,,ENST00000554297,;SPATA1,non_coding_transcript_exon_variant,,ENST00000263717,;	3101	618	655	SUCCESS
CEBPB	1051	.	GRCh37	20	48809083	48809084	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	112	63	133	0	ENST00000303004.3:c.*482dup			ENST00000303004	NM_005194.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13429.1	.	INDELOCATOR|VARSCANI	.	TTGGTCTTTTT	NONE	.	.	.	.	.	ENSP00000305422	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303004	Transcript	.	.	ENSG00000172216	1834	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CEBPB_HUMAN	CEBPB	HGNC	Q9BSC0_HUMAN	.	UPI000000D8BA	insertion	CEBPB,3_prime_UTR_variant,,ENST00000303004,;	1708-1709	133	175	SUCCESS
SRSF7	6432	.	GRCh37	2	38972184	38972184	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	52	0	ENST00000313117.6:c.*91T>C			ENST00000313117	NM_001195446.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33183.1	.	MUTECT|MUSE	.	GAATTATCTTT	NONE	.	.	.	.	.	ENSP00000325905	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000313117	Transcript	.	.	ENSG00000115875	10789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRSF7_HUMAN	SRSF7	HGNC	.	.	UPI000000D853	SNV	SRSF7,3_prime_UTR_variant,,ENST00000452806,;SRSF7,3_prime_UTR_variant,,ENST00000313117,;SRSF7,3_prime_UTR_variant,,ENST00000446327,;SRSF7,3_prime_UTR_variant,,ENST00000409276,;GALM,downstream_gene_variant,,ENST00000434934,;SRSF7,3_prime_UTR_variant,,ENST00000431066,;SRSF7,3_prime_UTR_variant,,ENST00000425778,;SRSF7,3_prime_UTR_variant,,ENST00000443213,;SRSF7,3_prime_UTR_variant,,ENST00000432873,;SRSF7,3_prime_UTR_variant,,ENST00000425941,;SRSF7,non_coding_transcript_exon_variant,,ENST00000477635,;SRSF7,downstream_gene_variant,,ENST00000487773,;SRSF7,downstream_gene_variant,,ENST00000415527,;	1046	52	34	SUCCESS
RP11-71H17.7	0	.	GRCh37	3	124438224	124438224	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs998847211	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	28	123	0				ENST00000568966				0	.	.	.	.	.	G	.	sense_overlapping	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTAGCATGCTT	NONE	.	4411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000568966	Transcript	.	.	ENSG00000260391	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-71H17.7	Clone_based_vega_gene	.	.	.	SNV	KALRN,synonymous_variant,p.%3D,ENST00000291478,;KALRN,synonymous_variant,p.%3D,ENST00000354186,;KALRN,synonymous_variant,p.%3D,ENST00000428018,;KALRN,synonymous_variant,p.%3D,ENST00000360013,;RP11-71H17.7,upstream_gene_variant,,ENST00000568966,;	.	123	100	SUCCESS
NKIRAS1	28512	.	GRCh37	3	23934424	23934424	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	10	0	ENST00000388759.3:c.*162T>G			ENST00000388759				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAAATACTT	NONE	.	.	.	.	.	ENSP00000393785	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000443659	Transcript	.	.	ENSG00000197885	17899	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBRS1_HUMAN	NKIRAS1	HGNC	.	.	UPI000004A03F	SNV	NKIRAS1,3_prime_UTR_variant,,ENST00000415901,;NKIRAS1,3_prime_UTR_variant,,ENST00000421515,;NKIRAS1,3_prime_UTR_variant,,ENST00000443659,;NKIRAS1,3_prime_UTR_variant,,ENST00000425478,;NKIRAS1,3_prime_UTR_variant,,ENST00000437230,;NKIRAS1,3_prime_UTR_variant,,ENST00000388759,;NKIRAS1,3_prime_UTR_variant,,ENST00000412028,;UBE2E1,downstream_gene_variant,,ENST00000424381,;UBE2E1,downstream_gene_variant,,ENST00000306627,;UBE2E1,downstream_gene_variant,,ENST00000452012,;NKIRAS1,downstream_gene_variant,,ENST00000416026,;UBE2E1,downstream_gene_variant,,ENST00000442670,;UBE2E1,downstream_gene_variant,,ENST00000467766,;UBE2E1,downstream_gene_variant,,ENST00000346855,;UBE2E1,downstream_gene_variant,,ENST00000493707,;UBE2E1,downstream_gene_variant,,ENST00000475680,;	1519	10	21	SUCCESS
PEG10	23089	.	GRCh37	7	94297615	94297615	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	4	112	0	ENST00000482108.1:c.*3769A>T			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55126.1	.	MUTECT|MUSE	.	ATTCTATAGTT	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	5226	112	94	SUCCESS
DEPTOR	64798	.	GRCh37	8	120885947	120885947	+	upstream_gene_variant	5'Flank	SNP	C	C	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	4	53	0				ENST00000286234	NM_022783.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6331.1	.	MUTECT|MUSE	.	ATTCCCTCTCC	NONE	.	10	.	.	.	ENSP00000286234	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286234	Transcript	.	.	ENSG00000155792	22953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPTOR_HUMAN	DEPTOR	HGNC	.	.	UPI000013DE38	SNV	DEPTOR,upstream_gene_variant,,ENST00000523492,;DEPTOR,upstream_gene_variant,,ENST00000286234,;KB-1471A8.1,non_coding_transcript_exon_variant,,ENST00000500705,;KB-1471A8.1,intron_variant,,ENST00000523563,;	.	53	73	SUCCESS
TMEM215	401498	.	GRCh37	9	32786501	32786501	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	142	9	145	0	ENST00000342743.5:c.*1612T>A			ENST00000342743	NM_212558.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6530.1	.	MUTECT|MUSE	.	AAATTTTATCT	NONE	.	.	.	.	.	ENSP00000345468	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000342743	Transcript	.	.	ENSG00000188133	33816	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM215_HUMAN	TMEM215	HGNC	.	.	UPI0000049371	SNV	TMEM215,3_prime_UTR_variant,,ENST00000342743,;	2685	145	151	SUCCESS
C1GALT1C1	29071	.	GRCh37	X	119759976	119759976	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	38	62	0	ENST00000304661.5:c.*89A>G			ENST00000304661	NM_001011551.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14602.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAACATACAGC	NONE	.	.	.	.	.	ENSP00000304364	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000304661	Transcript	.	.	ENSG00000171155	24338	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1GLC_HUMAN	C1GALT1C1	HGNC	.	.	UPI000004C659	SNV	C1GALT1C1,3_prime_UTR_variant,,ENST00000371313,;C1GALT1C1,3_prime_UTR_variant,,ENST00000304661,;	1285	62	96	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910244	144910244	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	161	25	218	0				ENST00000370490				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14681.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTGTGCA	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1317	218	186	SUCCESS
LPAR4	2846	.	GRCh37	X	78011865	78011865	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1168238720	.	TCGA-DD-AAVV-01	TCGA-DD-AAVV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	149	8	150	0	ENST00000435339.3:c.*386T>C			ENST00000435339	NM_005296.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14441.1	.	MUTECT|MUSE	.	TGTGTTACTAC	NONE	.	.	.	.	.	ENSP00000408205	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000435339	Transcript	.	.	ENSG00000147145	4478	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LPAR4_HUMAN	LPAR4	HGNC	.	.	UPI000005041D	SNV	LPAR4,3_prime_UTR_variant,,ENST00000435339,;LPAR4,downstream_gene_variant,,ENST00000514744,;LPAR4,downstream_gene_variant,,ENST00000607964,;	1885	150	157	SUCCESS
AGAP5	729092	.	GRCh37	10	75434061	75434061	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1443049396	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	25	0	ENST00000374094.4:c.*296G>T			ENST00000374094	NM_001144000.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44439.1	.	MUTECT|MUSE	.	ATGAACTTTTT	NONE	.	.	.	.	.	ENSP00000363207	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000374094	Transcript	.	.	ENSG00000172650	23467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AGAP5_HUMAN	AGAP5	HGNC	.	.	UPI000049DCFD	SNV	AGAP5,3_prime_UTR_variant,,ENST00000443782,;AGAP5,3_prime_UTR_variant,,ENST00000374094,;RP11-464F9.21,intron_variant,,ENST00000607450,;RP11-464F9.1,non_coding_transcript_exon_variant,,ENST00000399449,;AGAP5,downstream_gene_variant,,ENST00000607663,;	2398	25	23	SUCCESS
LRRC10B	390205	.	GRCh37	11	61277553	61277553	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	68	0	ENST00000378075.2:c.*204C>G			ENST00000378075	NM_001145077.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATCTGTGG	NONE	.	.	.	.	.	ENSP00000367315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378075	Transcript	.	.	ENSG00000204950	37215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR10B_HUMAN	LRRC10B	HGNC	.	.	UPI00006C114B	SNV	LRRC10B,3_prime_UTR_variant,,ENST00000378075,;MIR4488,downstream_gene_variant,,ENST00000577388,;	1282	68	34	SUCCESS
BIRC5	332	.	GRCh37	17	76219871	76219871	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1567867151	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	14	0	ENST00000350051.3:c.*236C>T			ENST00000350051	NM_001168.2	137		0	.	.	.	.	.	T	K	protein_coding	YES	.	411	MUTECT|MUSE	.	TCTCTCTTTTT	NONE	.	.	.	.	.	ENSP00000473193	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000600484	Transcript	.	.	ENSG00000268310	.	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC087645.1	Clone_based_ensembl_gene	M0R3F9_HUMAN	.	UPI00015DFB87	SNV	AC087645.1,synonymous_variant,p.%3D,ENST00000600484,;BIRC5,3_prime_UTR_variant,,ENST00000301633,;BIRC5,3_prime_UTR_variant,,ENST00000350051,;BIRC5,3_prime_UTR_variant,,ENST00000374948,;BIRC5,downstream_gene_variant,,ENST00000592734,;BIRC5,downstream_gene_variant,,ENST00000587746,;BIRC5,non_coding_transcript_exon_variant,,ENST00000589892,;BIRC5,downstream_gene_variant,,ENST00000592115,;BIRC5,downstream_gene_variant,,ENST00000586192,;BIRC5,downstream_gene_variant,,ENST00000590925,;BIRC5,downstream_gene_variant,,ENST00000591800,;	411	14	12	SUCCESS
SYNPO	11346	.	GRCh37	5	150031090	150031090	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVW-01	TCGA-DD-AAVW-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	8	188	0	ENST00000394243.1:c.*1195T>C			ENST00000394243	NM_001166208.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54937.1	.	MUTECT|MUSE|VARSCANS	.	GGCTGTGAGGG	NONE	.	.	.	.	.	ENSP00000377789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394243	Transcript	.	.	ENSG00000171992	30672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SYNPO_HUMAN	SYNPO	HGNC	Q71HJ6_HUMAN	.	UPI000013F943	SNV	SYNPO,3_prime_UTR_variant,,ENST00000519664,;SYNPO,3_prime_UTR_variant,,ENST00000394243,;SYNPO,3_prime_UTR_variant,,ENST00000522122,;SYNPO,intron_variant,,ENST00000307662,;SYNPO,downstream_gene_variant,,ENST00000518872,;	4359	188	90	SUCCESS
P2RX3	5024	.	GRCh37	11	57137488	57137488	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1243303508	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	17	80	0	ENST00000263314.2:c.*18C>T			ENST00000263314	NM_002559.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7953.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCCACAC	NONE	.	.	.	.	.	ENSP00000263314	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000263314	Transcript	.	.	ENSG00000109991	8534	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P2RX3_HUMAN	P2RX3	HGNC	H0YDR6_HUMAN	.	UPI00000342EB	SNV	P2RX3,3_prime_UTR_variant,,ENST00000263314,;	1246	80	62	SUCCESS
KCNA1	3736	.	GRCh37	12	5024724	5024724	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	25	105	0	ENST00000382545.3:c.*2692G>A			ENST00000382545	NM_000217.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8535.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCCGACTAC	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	5287	105	103	SUCCESS
SLITRK1	114798	.	GRCh37	13	84453488	84453488	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs952553149	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	27	0	ENST00000377084.2:c.*64C>A			ENST00000377084	NM_052910.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9464.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGGGGTGC	NONE	.	.	.	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,3_prime_UTR_variant,,ENST00000377084,;	3041	27	17	SUCCESS
FAM46C	0	.	GRCh37	1	118166907	118166907	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1558008262	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	10	39	0	ENST00000369448.3:c.*241A>G			ENST00000369448	NM_017709.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS896.1	.	RADIA|MUTECT|MUSE	.	GACCTATCCAC	NONE	.	.	.	.	.	ENSP00000358458	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369448	Transcript	.	.	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	1664	39	23	SUCCESS
IFI44	10561	.	GRCh37	1	79129611	79129611	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	2	28	0	ENST00000370747.4:c.*115T>C			ENST00000370747	NM_006417.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS688.1	.	MUTECT|MUSE	.	TAATGTCTAGG	NONE	.	.	.	.	.	ENSP00000359783	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370747	Transcript	.	.	ENSG00000137965	16938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IFI44_HUMAN	IFI44	HGNC	C9JUM8_HUMAN	.	UPI000013D0E5	SNV	IFI44,3_prime_UTR_variant,,ENST00000370747,;IFI44,3_prime_UTR_variant,,ENST00000446486,;IFI44,downstream_gene_variant,,ENST00000438486,;IFI44,downstream_gene_variant,,ENST00000545124,;IFI44,non_coding_transcript_exon_variant,,ENST00000472152,;IFI44,non_coding_transcript_exon_variant,,ENST00000495254,;IFI44,non_coding_transcript_exon_variant,,ENST00000476911,;IFI44,downstream_gene_variant,,ENST00000485662,;IFI44,downstream_gene_variant,,ENST00000470323,;RP4-641G12.3,upstream_gene_variant,,ENST00000427236,;	1535	28	10	SUCCESS
TIAM1	7074	.	GRCh37	21	32490806	32490806	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	75	0	ENST00000286827.3:c.*1880A>G			ENST00000286827	NM_003253.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13609.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAATAGACC	NONE	.	.	.	.	.	ENSP00000286827	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000286827	Transcript	.	.	ENSG00000156299	11805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TIAM1_HUMAN	TIAM1	HGNC	C9JMB5_HUMAN	.	UPI000013DE6F	SNV	TIAM1,3_prime_UTR_variant,,ENST00000286827,;TIAM1,3_prime_UTR_variant,,ENST00000423206,;TIAM1,downstream_gene_variant,,ENST00000541036,;	7128	75	57	SUCCESS
RAB6C	84084	.	GRCh37	2	130739265	130739265	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1223131251	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	142	75	304	0	ENST00000410061.2:c.*812C>T			ENST00000410061	NM_032144.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATACTATGC	NONE	.	.	.	.	.	ENSP00000387307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000410061	Transcript	.	.	ENSG00000222014	16525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB6C_HUMAN	RAB6C	HGNC	.	.	UPI00001AF8C6	SNV	RAB6C,3_prime_UTR_variant,,ENST00000410061,;RAB6C-AS1,upstream_gene_variant,,ENST00000412425,;	2031	304	218	SUCCESS
CLDN1	9076	.	GRCh37	3	190026015	190026015	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	55	0	ENST00000295522.3:c.*51T>C			ENST00000295522	NM_021101.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3295.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCAATGTC	NONE	.	.	.	.	.	ENSP00000295522	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000295522	Transcript	.	.	ENSG00000163347	2032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD1_HUMAN	CLDN1	HGNC	B4DLC3_HUMAN,A5JSJ9_HUMAN	.	UPI0000046D1E	SNV	CLDN1,3_prime_UTR_variant,,ENST00000295522,;CLDN1,downstream_gene_variant,,ENST00000490800,;	956	55	43	SUCCESS
ZBTB24	9841	.	GRCh37	6	109786867	109786867	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs775871899	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	13	0	ENST00000230122.3:c.*187G>A			ENST00000230122	NM_014797.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34509.1	.	MUTECT|MUSE	.	AGTACCTTAGA	NONE	byFrequency	.	.	.	.	ENSP00000230122	.	7/7	.	.	.	.	.	.	.	.	rs775871899	7/7	PASS	ENST00000230122	Transcript	.	.	ENSG00000112365	21143	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT24_HUMAN	ZBTB24	HGNC	.	.	UPI000013C924	SNV	MICAL1,missense_variant,p.Ser5Asn,ENST00000368952,;ZBTB24,3_prime_UTR_variant,,ENST00000230122,;	2449	13	8	SUCCESS
MYL10	93408	.	GRCh37	7	101256658	101256658	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	48	0	ENST00000223167.4:c.*97C>T			ENST00000223167	NM_138403.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34713.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAGGGAAGC	NONE	.	.	.	.	.	ENSP00000223167	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000223167	Transcript	.	.	ENSG00000106436	29825	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYL10_HUMAN	MYL10	HGNC	.	.	UPI00001BBFAD	SNV	MYL10,3_prime_UTR_variant,,ENST00000223167,;	956	48	54	SUCCESS
MICALL2	79778	.	GRCh37	7	1474102	1474102	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-DD-AAVX-01	TCGA-DD-AAVX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	24	0	ENST00000297508.7:c.*130G>C			ENST00000297508	NM_182924.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5324.1	.	MUTECT|MUSE	.	CAAGTCCGAAT	NONE	.	.	.	.	.	ENSP00000297508	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000297508	Transcript	.	.	ENSG00000164877	29672	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MILK2_HUMAN	MICALL2	HGNC	.	.	UPI00000742E0	SNV	MICALL2,3_prime_UTR_variant,,ENST00000297508,;MICALL2,3_prime_UTR_variant,,ENST00000405088,;MICALL2,non_coding_transcript_exon_variant,,ENST00000471899,;MICALL2,3_prime_UTR_variant,,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000467394,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000470807,;MICALL2,non_coding_transcript_exon_variant,,ENST00000479007,;MICALL2,non_coding_transcript_exon_variant,,ENST00000467783,;MICALL2,intron_variant,,ENST00000496184,;MICALL2,intron_variant,,ENST00000493998,;MICALL2,downstream_gene_variant,,ENST00000487187,;MICALL2,downstream_gene_variant,,ENST00000460198,;MICALL2,downstream_gene_variant,,ENST00000487156,;	3021	24	14	SUCCESS
TSPAN14	81619	.	GRCh37	10	82277760	82277760	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	62	0	ENST00000372156.1:c.*28G>T			ENST00000372156				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGAGCCACG	NONE	.	.	.	.	.	ENSP00000396270	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000429989	Transcript	.	.	ENSG00000108219	23303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TSN14_HUMAN	TSPAN14	HGNC	.	.	UPI000004ACAE	SNV	TSPAN14,3_prime_UTR_variant,,ENST00000372156,;TSPAN14,3_prime_UTR_variant,,ENST00000429989,;TSPAN14,3_prime_UTR_variant,,ENST00000481124,;TSPAN14,3_prime_UTR_variant,,ENST00000372164,;TSPAN14,3_prime_UTR_variant,,ENST00000372158,;TSPAN14,3_prime_UTR_variant,,ENST00000341863,;TSPAN14,downstream_gene_variant,,ENST00000372157,;TSPAN14,non_coding_transcript_exon_variant,,ENST00000265450,;	1064	62	88	SUCCESS
RBP4	5950	.	GRCh37	10	95351737	95351737	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	53	0	ENST00000371464.3:c.*95C>T			ENST00000371464	NM_006744.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31249.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGATGGGGAG	NONE	.	.	.	.	.	ENSP00000360522	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000371467	Transcript	1	.	ENSG00000138207	9922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RET4_HUMAN	RBP4	HGNC	.	.	UPI0000044958	SNV	RBP4,3_prime_UTR_variant,,ENST00000371464,;RBP4,3_prime_UTR_variant,,ENST00000371469,;RBP4,3_prime_UTR_variant,,ENST00000371467,;FFAR4,intron_variant,,ENST00000604414,;FFAR4,downstream_gene_variant,,ENST00000371481,;FFAR4,downstream_gene_variant,,ENST00000371483,;	1021	53	51	SUCCESS
RGL3	57139	.	GRCh37	19	11505045	11505045	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1199237056	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	37	73	0	ENST00000380456.3:c.*33C>T			ENST00000380456	NM_001035223.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54221.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGGGACTT	NONE	.	.	.	.	.	ENSP00000377075	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000393423	Transcript	.	.	ENSG00000205517	30282	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL3_HUMAN	RGL3	HGNC	.	.	UPI0001A5C4AD	SNV	RGL3,3_prime_UTR_variant,,ENST00000380456,;RGL3,3_prime_UTR_variant,,ENST00000393423,;RGL3,non_coding_transcript_exon_variant,,ENST00000568628,;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,;RGL3,intron_variant,,ENST00000563726,;RGL3,intron_variant,,ENST00000562663,;RGL3,downstream_gene_variant,,ENST00000566919,;	2234	73	71	SUCCESS
APC2	10297	.	GRCh37	19	1470354	1470354	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs968077711	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	19	0	ENST00000233607.2:c.*142G>A			ENST00000233607	NM_005883.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12068.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCCGCCCAG	NONE	.	.	.	.	.	ENSP00000442954	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	SNV	APC2,3_prime_UTR_variant,,ENST00000233607,;APC2,3_prime_UTR_variant,,ENST00000238483,;APC2,3_prime_UTR_variant,,ENST00000535453,;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000586564,;C19orf25,downstream_gene_variant,,ENST00000436106,;C19orf25,downstream_gene_variant,,ENST00000588849,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000592872,;C19orf25,downstream_gene_variant,,ENST00000585675,;C19orf25,downstream_gene_variant,,ENST00000590621,;C19orf25,downstream_gene_variant,,ENST00000588871,;C19orf25,downstream_gene_variant,,ENST00000592486,;APC2,downstream_gene_variant,,ENST00000593146,;	8767	19	14	SUCCESS
S100A9	6280	.	GRCh37	1	153333425	153333425	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	55	74	0	ENST00000368738.3:c.*111C>T			ENST00000368738	NM_002965.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1036.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGGGCCCCGG	NONE	.	.	.	.	.	ENSP00000357727	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368738	Transcript	.	.	ENSG00000163220	10499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S10A9_HUMAN	S100A9	HGNC	.	.	UPI000002C6C8	SNV	S100A9,3_prime_UTR_variant,,ENST00000368738,;	499	74	115	SUCCESS
RBBP4	5928	.	GRCh37	1	33150122	33150122	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	21	0	ENST00000373493.5:c.*4816A>G			ENST00000373493	NM_005610.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS366.1	.	MUTECT|MUSE	.	AGGTTATGAAA	NONE	.	.	.	.	.	ENSP00000362592	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000373493	Transcript	.	.	ENSG00000162521	9887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBBP4_HUMAN	RBBP4	HGNC	H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN	.	UPI000013318C	SNV	RBBP4,3_prime_UTR_variant,,ENST00000373493,;SYNC,intron_variant,,ENST00000409190,;SYNC,intron_variant,,ENST00000373484,;RBBP4,downstream_gene_variant,,ENST00000414241,;RBBP4,downstream_gene_variant,,ENST00000482190,;RBBP4,downstream_gene_variant,,ENST00000373485,;RBBP4,downstream_gene_variant,,ENST00000458695,;RBBP4,downstream_gene_variant,,ENST00000544435,;RBBP4,downstream_gene_variant,,ENST00000463378,;RBBP4,downstream_gene_variant,,ENST00000492348,;RBBP4,downstream_gene_variant,,ENST00000460669,;	6253	21	14	SUCCESS
WFDC3	140686	.	GRCh37	20	44402999	44402999	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	24	62	0	ENST00000243938.4:c.*68A>G			ENST00000243938	NM_080614.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33478.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATGTCACCC	NONE	.	.	.	.	.	ENSP00000243938	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000243938	Transcript	.	.	ENSG00000124116	15957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WFDC3_HUMAN	WFDC3	HGNC	.	.	UPI00000747AE	SNV	WFDC3,3_prime_UTR_variant,,ENST00000372632,;WFDC3,3_prime_UTR_variant,,ENST00000243938,;WFDC3,3_prime_UTR_variant,,ENST00000337205,;WFDC3,3_prime_UTR_variant,,ENST00000372630,;RNU6ATAC38P,upstream_gene_variant,,ENST00000408119,;WFDC3,non_coding_transcript_exon_variant,,ENST00000471401,;WFDC3,non_coding_transcript_exon_variant,,ENST00000474942,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000493693,;WFDC3,non_coding_transcript_exon_variant,,ENST00000462017,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,downstream_gene_variant,,ENST00000467679,;WFDC3,downstream_gene_variant,,ENST00000490877,;	848	62	45	SUCCESS
C2orf43	0	.	GRCh37	2	20884664	20884664	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	27	96	0				ENST00000237822	NM_021925.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1702.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCTTGAAA	NONE	.	154	.	.	.	ENSP00000237822	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000237822	Transcript	.	.	ENSG00000118961	26145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CB043_HUMAN	C2orf43	HGNC	C9JHU6_HUMAN,B7ZA47_HUMAN,B4DU46_HUMAN	.	UPI0000071DAB	SNV	C2orf43,missense_variant,p.Arg239Gly,ENST00000403006,;C2orf43,missense_variant,p.Arg369Gly,ENST00000381090,;C2orf43,downstream_gene_variant,,ENST00000440866,;C2orf43,downstream_gene_variant,,ENST00000541941,;C2orf43,downstream_gene_variant,,ENST00000237822,;C2orf43,downstream_gene_variant,,ENST00000435420,;C2orf43,intron_variant,,ENST00000470099,;	.	96	65	SUCCESS
SOX11	6664	.	GRCh37	2	5841200	5841200	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	55	152	0	ENST00000322002.3:c.*7021C>A			ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCGTCTT	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	8402	152	124	SUCCESS
FAM43A	131583	.	GRCh37	3	194409683	194409683	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	18	39	0	ENST00000329759.4:c.*856A>G			ENST00000329759	NM_153690.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33923.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACATTTTG	NONE	.	.	.	.	.	ENSP00000371397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329759	Transcript	.	.	ENSG00000185112	26888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA43A_HUMAN	FAM43A	HGNC	.	.	UPI0000074368	SNV	FAM43A,3_prime_UTR_variant,,ENST00000329759,;	3062	39	32	SUCCESS
SHFM1	0	.	GRCh37	7	96318082	96318082	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1202343232	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	23	0	ENST00000248566.2:c.*154A>G			ENST00000248566	NM_006304.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5646.1	.	MUTECT|MUSE	.	GATTATATCAA	NONE	.	.	.	.	.	ENSP00000248566	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000248566	Transcript	.	.	ENSG00000127922	10845	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DSS1_HUMAN	SHFM1	HGNC	Q6IBB7_HUMAN	.	UPI000000162C	SNV	SHFM1,3_prime_UTR_variant,,ENST00000248566,;SHFM1,intron_variant,,ENST00000444799,;SHFM1,intron_variant,,ENST00000417009,;SHFM1,intron_variant,,ENST00000413065,;SHFM1,intron_variant,,ENST00000466986,;SHFM1,intron_variant,,ENST00000488005,;SHFM1,non_coding_transcript_exon_variant,,ENST00000482389,;SHFM1,intron_variant,,ENST00000449279,;	495	23	25	SUCCESS
KIAA1456	0	.	GRCh37	8	12886082	12886082	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	70	0	ENST00000524591.2:c.*6529T>C			ENST00000524591	NM_020844.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47808.1	.	SOMATICSNIPER|VARSCANS	.	TCTTTTCTTTT	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	8383	70	24	SUCCESS
GDA	9615	.	GRCh37	9	74863296	74863296	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs778734479	.	TCGA-DD-AAVY-01	TCGA-DD-AAVY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	39	129	1	ENST00000358399.3:c.*38G>T			ENST00000358399	NM_001242506.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56576.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGCGTGGTT	NONE	byFrequency	.	.	.	.	ENSP00000238018	.	.	.	.	.	.	.	.	.	.	rs778734479	.	PASS	ENST00000238018	Transcript	.	.	ENSG00000119125	4212	.	.	MODIFIER	14/14	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUAD_HUMAN	GDA	HGNC	Q5SZC3_HUMAN,B4DIP8_HUMAN,B3KUM3_HUMAN	.	UPI000015828B	SNV	GDA,3_prime_UTR_variant,,ENST00000358399,;GDA,3_prime_UTR_variant,,ENST00000545168,;GDA,intron_variant,,ENST00000238018,;GDA,intron_variant,,ENST00000376986,;GDA,intron_variant,,ENST00000436438,;GDA,intron_variant,,ENST00000376989,;GDA,3_prime_UTR_variant,,ENST00000475764,;GDA,3_prime_UTR_variant,,ENST00000489618,;	.	130	80	SUCCESS
TMEM235	283999	.	GRCh37	17	76236236	76236236	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	16	0	ENST00000421688.1:c.*181G>T			ENST00000421688				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56046.1	.	MUTECT|MUSE	.	ACTGTGAGTGC	NONE	.	.	.	.	.	ENSP00000446514	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000551068	Transcript	.	.	ENSG00000204278	27563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM235_HUMAN	TMEM235	HGNC	.	.	UPI0000251E19	SNV	TMEM235,3_prime_UTR_variant,,ENST00000421688,;TMEM235,3_prime_UTR_variant,,ENST00000591033,;TMEM235,3_prime_UTR_variant,,ENST00000550981,;TMEM235,3_prime_UTR_variant,,ENST00000551068,;TMEM235,3_prime_UTR_variant,,ENST00000586400,;TMEM235,3_prime_UTR_variant,,ENST00000374946,;	1156	16	21	SUCCESS
ZFP28	140612	.	GRCh37	19	57066902	57066902	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs574292550	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	24	0	ENST00000301318.3:c.*141T>C			ENST00000301318	NM_020828.1			0	.	C:0.0008	.	C:0	.	C	.	protein_coding	YES	CCDS12946.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTATAGTTT	NONE	by1000G	.	.	C:0	.	ENSP00000301318	C:0	8/8	.	.	.	.	.	.	.	.	rs574292550	8/8	PASS	ENST00000301318	Transcript	.	C:0.0002	ENSG00000196867	17801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	ZFP28_HUMAN	ZFP28	HGNC	Q68CX9_HUMAN	.	UPI000006D90E	SNV	ZFP28,3_prime_UTR_variant,,ENST00000301318,;ZFP28,downstream_gene_variant,,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,;	2819	24	18	SUCCESS
RSPH1	89765	.	GRCh37	21	43892874	43892874	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs374503591	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	22	70	0	ENST00000291536.3:c.*54G>A			ENST00000291536	NM_080860.2			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS13688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCCGGCTA	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000291536	T:0	9/9	.	.	.	.	.	.	.	.	rs374503591	9/9	PASS	ENST00000291536	Transcript	.	T:0.0052	ENSG00000160188	12371	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.0256	.	.	RSPH1_HUMAN	RSPH1	HGNC	.	.	UPI000004FA34	SNV	RSPH1,3_prime_UTR_variant,,ENST00000398352,;RSPH1,3_prime_UTR_variant,,ENST00000291536,;RSPH1,non_coding_transcript_exon_variant,,ENST00000493019,;	1152	70	65	SUCCESS
ANKIB1	54467	.	GRCh37	7	92028409	92028409	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	18	47	0	ENST00000265742.3:c.*146T>C			ENST00000265742	NM_019004.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47639.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGAATGGTAG	NONE	.	.	.	.	.	ENSP00000265742	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000265742	Transcript	.	.	ENSG00000001629	22215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AKIB1_HUMAN	ANKIB1	HGNC	Q4VBX8_HUMAN,C9JZ63_HUMAN	.	UPI00001C1E7C	SNV	ANKIB1,3_prime_UTR_variant,,ENST00000265742,;ANKIB1,3_prime_UTR_variant,,ENST00000422095,;ANKIB1,downstream_gene_variant,,ENST00000465883,;	3792	47	49	SUCCESS
TAF1L	138474	.	GRCh37	9	32629802	32629802	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs757477027	.	TCGA-DD-AAVZ-01	TCGA-DD-AAVZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000242310.4:c.*295C>T			ENST00000242310	NM_153809.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35003.1	.	MUTECT|MUSE	.	CAGGCGTGCAC	NONE	.	.	.	.	.	ENSP00000418379	.	1/1	.	.	.	.	.	.	.	.	rs757477027	1/1	PASS	ENST00000242310	Transcript	.	.	ENSG00000122728	18056	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TAF1L_HUMAN	TAF1L	HGNC	.	.	UPI000007408A	SNV	TAF1L,3_prime_UTR_variant,,ENST00000242310,;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	5866	8	10	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	22	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|MUSE	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	22	17	SUCCESS
KCNA6	3742	.	GRCh37	12	4923656	4923656	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	133	40	98	0				ENST00000280684				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8534.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACTGAGA	NONE	.	.	.	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,3_prime_UTR_variant,,ENST00000433855,;GALNT8,intron_variant,,ENST00000542998,;KCNA6,downstream_gene_variant,,ENST00000280684,;GALNT8,non_coding_transcript_exon_variant,,ENST00000541339,;	5315	98	173	SUCCESS
GGACT	87769	.	GRCh37	13	101184170	101184170	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	6	12	0	ENST00000376250.2:c.*214T>C			ENST00000376250				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45066.1	.	MUTECT|MUSE	.	ATCCTAAATTT	NONE	.	.	.	.	.	ENSP00000365426	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376250	Transcript	.	.	ENSG00000134864	25100	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GGACT_HUMAN	GGACT	HGNC	M0R217_HUMAN,M0R0M3_HUMAN	.	UPI00001BBFA6	SNV	GGACT,3_prime_UTR_variant,,ENST00000455100,;GGACT,3_prime_UTR_variant,,ENST00000376250,;PCCA,downstream_gene_variant,,ENST00000376286,;PCCA,downstream_gene_variant,,ENST00000428969,;GGACT,downstream_gene_variant,,ENST00000467518,;PCCA,downstream_gene_variant,,ENST00000458283,;GGACT,downstream_gene_variant,,ENST00000471912,;PCCA,downstream_gene_variant,,ENST00000376285,;PCCA,downstream_gene_variant,,ENST00000376279,;GGACT,downstream_gene_variant,,ENST00000464500,;GGACT,downstream_gene_variant,,ENST00000492399,;RP11-151A6.4,downstream_gene_variant,,ENST00000454752,;	1071	12	25	SUCCESS
DLST	1743	.	GRCh37	14	75369143	75369143	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	4	15	0	ENST00000334220.4:c.*110T>A			ENST00000334220	NM_001933.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9833.1	.	MUTECT|MUSE	.	GCTGTTGGCCT	NONE	.	.	.	.	.	ENSP00000335304	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000334220	Transcript	.	.	ENSG00000119689	2911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ODO2_HUMAN	DLST	HGNC	.	.	UPI00000000C0	SNV	DLST,3_prime_UTR_variant,,ENST00000334220,;DLST,3_prime_UTR_variant,,ENST00000334212,;RPS6KL1,downstream_gene_variant,,ENST00000553789,;RPS6KL1,downstream_gene_variant,,ENST00000555910,;RPS6KL1,downstream_gene_variant,,ENST00000553971,;RPS6KL1,downstream_gene_variant,,ENST00000358328,;RPS6KL1,downstream_gene_variant,,ENST00000555647,;RPS6KL1,downstream_gene_variant,,ENST00000557413,;RPS6KL1,downstream_gene_variant,,ENST00000556848,;RPS6KL1,downstream_gene_variant,,ENST00000553315,;RPS6KL1,downstream_gene_variant,,ENST00000354625,;DLST,downstream_gene_variant,,ENST00000554806,;DLST,downstream_gene_variant,,ENST00000555190,;DLST,3_prime_UTR_variant,,ENST00000554612,;DLST,3_prime_UTR_variant,,ENST00000238671,;RPS6KL1,downstream_gene_variant,,ENST00000553646,;RPS6KL1,downstream_gene_variant,,ENST00000555009,;RPS6KL1,downstream_gene_variant,,ENST00000555834,;DLST,downstream_gene_variant,,ENST00000555089,;	1533	15	24	SUCCESS
CDK5R1	8851	.	GRCh37	17	30817836	30817836	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	116	29	153	0	ENST00000313401.3:c.*2274C>A			ENST00000313401	NM_003885.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11273.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCCACAGG	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	SNV	CDK5R1,3_prime_UTR_variant,,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000394649,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,downstream_gene_variant,,ENST00000584792,;RP11-466A19.1,upstream_gene_variant,,ENST00000581360,;MYO1D,downstream_gene_variant,,ENST00000577576,;CDK5R1,downstream_gene_variant,,ENST00000584716,;MYO1D,downstream_gene_variant,,ENST00000577352,;	3887	154	145	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39273866	39273866	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	15	59	1	ENST00000391413.2:c.*114A>G			ENST00000391413	NM_033059.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45675.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAGTCCACC	NONE	.	.	.	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,3_prime_UTR_variant,,ENST00000391413,;	741	60	66	SUCCESS
VAMP2	6844	.	GRCh37	17	8064053	8064053	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs187919083	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	24	0	ENST00000316509.6:c.*120G>T			ENST00000316509	NM_014232.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS32561.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACACACGGACA	NONE	byFrequency|by1000G	.	.	T:0.002	.	ENSP00000314214	T:0	5/5	.	.	.	.	.	.	.	.	rs187919083	5/5	PASS	ENST00000316509	Transcript	.	T:0.0004	ENSG00000220205	12643	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	VAMP2_HUMAN	VAMP2	HGNC	.	.	UPI00000527F8	SNV	VAMP2,3_prime_UTR_variant,,ENST00000316509,;VAMP2,3_prime_UTR_variant,,ENST00000404970,;RP11-599B13.6,intron_variant,,ENST00000498285,;VAMP2,downstream_gene_variant,,ENST00000488857,;PER1,upstream_gene_variant,,ENST00000354903,;PER1,upstream_gene_variant,,ENST00000584202,;VAMP2,downstream_gene_variant,,ENST00000481878,;PER1,upstream_gene_variant,,ENST00000577253,;PER1,upstream_gene_variant,,ENST00000581395,;	567	24	18	SUCCESS
GGPS1	9453	.	GRCh37	1	235506932	235506933	+	3_prime_UTR_variant	3'UTR	DEL	CC	CC	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	CC	CC	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	67	0	ENST00000282841.5:c.*845_*846delinsT			ENST00000282841				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1604.1	.	INDELOCATOR*|PINDEL	.	TTTTTTCCTTCCT	NONE	.	.	.	.	.	ENSP00000282841	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282841	Transcript	.	.	ENSG00000152904	4249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GGPPS_HUMAN	GGPS1	HGNC	C9J7M1_HUMAN,C9J6G3_HUMAN,A8MVQ8_HUMAN	.	UPI000012B3FB	substitution	GGPS1,3_prime_UTR_variant,,ENST00000358966,;GGPS1,3_prime_UTR_variant,,ENST00000282841,;GGPS1,downstream_gene_variant,,ENST00000497327,;GGPS1,downstream_gene_variant,,ENST00000476121,;GGPS1,downstream_gene_variant,,ENST00000488594,;GGPS1,downstream_gene_variant,,ENST00000471812,;GGPS1,downstream_gene_variant,,ENST00000391855,;	1980-1981	67	57	SUCCESS
TBR1	10716	.	GRCh37	2	162280837	162280837	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	75	0	ENST00000389554.3:c.*99C>T			ENST00000389554	NM_006593.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33310.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGCACCCACTC	NONE	.	.	.	.	.	ENSP00000374205	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000389554	Transcript	.	.	ENSG00000136535	11590	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TBR1_HUMAN	TBR1	HGNC	Q56A81_HUMAN,B0AZS4_HUMAN	.	UPI0000136A99	SNV	TBR1,3_prime_UTR_variant,,ENST00000389554,;TBR1,downstream_gene_variant,,ENST00000411412,;TBR1,downstream_gene_variant,,ENST00000410035,;AC009487.5,intron_variant,,ENST00000505579,;AC009487.4,upstream_gene_variant,,ENST00000437683,;AC009487.4,upstream_gene_variant,,ENST00000444164,;SLC4A10,upstream_gene_variant,,ENST00000605990,;TBR1,downstream_gene_variant,,ENST00000477804,;SLC4A10,upstream_gene_variant,,ENST00000606386,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,downstream_gene_variant,,ENST00000489530,;TBR1,downstream_gene_variant,,ENST00000463544,;	2465	75	79	SUCCESS
SH3BP4	23677	.	GRCh37	2	235962531	235962531	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs576422631	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	17	0	ENST00000344528.4:c.*71C>T			ENST00000344528				0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS2513.1	.	MUTECT|MUSE	.	CACCGCGGAGC	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000386862	T:0.001	6/6	.	.	.	.	.	.	.	.	rs576422631	6/6	PASS	ENST00000409212	Transcript	.	T:0.0004	ENSG00000130147	10826	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	SH3B4_HUMAN	SH3BP4	HGNC	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN	.	UPI000006DA47	SNV	SH3BP4,3_prime_UTR_variant,,ENST00000409212,;SH3BP4,3_prime_UTR_variant,,ENST00000344528,;SH3BP4,3_prime_UTR_variant,,ENST00000392011,;	3470	17	28	SUCCESS
F12	2161	.	GRCh37	5	176829263	176829263	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	39	0	ENST00000253496.3:c.*30G>T			ENST00000253496	NM_000505.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34302.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATCACCAAGG	NONE	.	.	.	.	.	ENSP00000253496	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000253496	Transcript	1	.	ENSG00000131187	3530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA12_HUMAN	F12	HGNC	Q96EF3_HUMAN	.	UPI000048055F	SNV	F12,3_prime_UTR_variant,,ENST00000253496,;GRK6,upstream_gene_variant,,ENST00000502598,;GRK6,upstream_gene_variant,,ENST00000506296,;SLC34A1,downstream_gene_variant,,ENST00000324417,;PFN3,upstream_gene_variant,,ENST00000358571,;F12,downstream_gene_variant,,ENST00000514943,;SLC34A1,downstream_gene_variant,,ENST00000513614,;F12,non_coding_transcript_exon_variant,,ENST00000504406,;F12,non_coding_transcript_exon_variant,,ENST00000502854,;F12,non_coding_transcript_exon_variant,,ENST00000510358,;F12,downstream_gene_variant,,ENST00000503736,;SLC34A1,downstream_gene_variant,,ENST00000507685,;	1927	39	71	SUCCESS
FKBPL	63943	.	GRCh37	6	32093947	32093947	+	downstream_gene_variant	3'Flank	SNP	G	G	T	.	.	TCGA-DD-AAW0-01	TCGA-DD-AAW0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	17	71	0				ENST00000375156	NM_022110.3	142		0	.	.	.	.	.	T	S/Y	protein_coding	YES	CCDS4737.1	425	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGAGGATGTT	NONE	.	.	hmmpanther:PTHR22952:SF107,hmmpanther:PTHR22952	.	.	ENSP00000364349	.	5/18	.	.	.	.	.	.	.	.	COSM3625321	5/18	PASS	ENST00000375203	Transcript	.	.	ENSG00000213676	2349	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.197)	.	deleterious(0.04)	1	ATF6B_HUMAN	ATF6B	HGNC	.	.	UPI00001261C8	SNV	ATF6B,missense_variant,p.Ser139Tyr,ENST00000375201,;ATF6B,missense_variant,p.Ser142Tyr,ENST00000375203,;FKBPL,downstream_gene_variant,,ENST00000375156,;ATF6B,non_coding_transcript_exon_variant,,ENST00000468502,;ATF6B,non_coding_transcript_exon_variant,,ENST00000485314,;ATF6B,non_coding_transcript_exon_variant,,ENST00000495579,;	458	71	90	SUCCESS
KRT73	319101	.	GRCh37	12	53012345	53012345	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs374429527	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	66	0				ENST00000305748	NM_175068.2			0	G:0	.	.	.	.	T	.	protein_coding	YES	CCDS8834.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGACCCTTAG	NONE	byFrequency|byCluster	2	.	.	G:0.0001	ENSP00000307014	.	.	.	.	.	.	.	.	.	.	rs374429527	.	PASS	ENST00000305748	Transcript	.	.	ENSG00000186049	28928	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K2C73_HUMAN	KRT73	HGNC	.	.	UPI000000DCB8	SNV	KRT73,upstream_gene_variant,,ENST00000552855,;KRT73,upstream_gene_variant,,ENST00000305748,;RP11-641A6.2,downstream_gene_variant,,ENST00000549180,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;RP11-641A6.2,downstream_gene_variant,,ENST00000552364,;KRT73,upstream_gene_variant,,ENST00000546934,;	.	66	75	SUCCESS
TJP1	7082	.	GRCh37	15	29993778	29993778	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	29	84	0	ENST00000346128.6:c.*21A>G			ENST00000346128	NM_175610.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATTTAAGTT	NONE	.	.	.	.	.	ENSP00000281537	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000346128	Transcript	.	.	ENSG00000104067	11827	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZO1_HUMAN	TJP1	HGNC	.	.	UPI000013DC83	SNV	TJP1,3_prime_UTR_variant,,ENST00000356107,;TJP1,3_prime_UTR_variant,,ENST00000400007,;TJP1,3_prime_UTR_variant,,ENST00000400011,;TJP1,3_prime_UTR_variant,,ENST00000346128,;TJP1,downstream_gene_variant,,ENST00000579042,;TJP1,downstream_gene_variant,,ENST00000545208,;	5743	84	79	SUCCESS
RNU6-721P	106481774	.	GRCh37	18	15325895	15325896	+	upstream_gene_variant	5'Flank	DEL	CA	CA	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	126	48	122	0				ENST00000410155				0	.	.	.	.	.	T	.	snRNA	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	TACCTTCATCAGA	NONE	.	4952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410155	Transcript	.	.	ENSG00000222087	47684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-721P	HGNC	.	.	.	substitution	RNU6-721P,upstream_gene_variant,,ENST00000410155,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000504516,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000455308,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000333851,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000508721,;	.	122	174	SUCCESS
ZNF737	100129842	.	GRCh37	19	20727251	20727251	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	15	0	ENST00000427401.4:c.*147A>T			ENST00000427401	NM_001159293.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54238.1	.	RADIA|MUTECT|MUSE	.	CCGCATGAATT	NONE	.	.	.	.	.	ENSP00000395733	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000427401	Transcript	.	.	ENSG00000237440	32468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN737_HUMAN	ZNF737	HGNC	M0R1D1_HUMAN	.	UPI0000198506	SNV	ZNF737,3_prime_UTR_variant,,ENST00000427401,;ZNF737,intron_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,downstream_gene_variant,,ENST00000597940,;	1853	15	12	SUCCESS
PRDX6	9588	.	GRCh37	1	173457258	173457258	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1557998582	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	10	0	ENST00000340385.5:c.*256A>G			ENST00000340385	NM_004905.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1307.1	.	RADIA|MUTECT|MUSE	.	ACTCAAATCTT	NONE	.	.	.	.	.	ENSP00000342026	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000340385	Transcript	.	.	ENSG00000117592	16753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PRDX6_HUMAN	PRDX6	HGNC	.	.	UPI0000001C4B	SNV	PRDX6,3_prime_UTR_variant,,ENST00000340385,;PRDX6,downstream_gene_variant,,ENST00000470017,;	1063	10	10	SUCCESS
HEYL	26508	.	GRCh37	1	40092012	40092012	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	12	0	ENST00000372852.3:c.*167A>T			ENST00000372852	NM_014571.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS439.1	.	RADIA|MUTECT|MUSE	.	AACAGTGAGAA	NONE	.	.	.	.	.	ENSP00000361943	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372852	Transcript	.	.	ENSG00000163909	4882	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEYL_HUMAN	HEYL	HGNC	F5H3V9_HUMAN	.	UPI000013E317	SNV	HEYL,3_prime_UTR_variant,,ENST00000372852,;HEYL,downstream_gene_variant,,ENST00000535435,;	1474	12	13	SUCCESS
CST9L	128821	.	GRCh37	20	23545523	23545523	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	3	39	0	ENST00000376979.3:c.*62C>A			ENST00000376979	NM_080610.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13157.1	.	MUTECT|MUSE	.	GGAGAGTAGTG	NONE	.	.	.	.	.	ENSP00000366178	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376979	Transcript	.	.	ENSG00000101435	16233	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CST9L_HUMAN	CST9L	HGNC	.	.	UPI0000038A07	SNV	CST9L,3_prime_UTR_variant,,ENST00000376979,;	805	39	40	SUCCESS
SAG	6295	.	GRCh37	2	234255573	234255573	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	59	116	0	ENST00000409110.1:c.*15G>T			ENST00000409110	NM_000541.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46545.1	.	RADIA|MUTECT|MUSE	.	CTCAGGATGCC	NONE	.	.	.	.	.	ENSP00000386444	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000409110	Transcript	.	.	ENSG00000130561	10521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARRS_HUMAN	SAG	HGNC	E7ESX4_HUMAN,A0FDN6_HUMAN	.	UPI000013CD8D	SNV	SAG,3_prime_UTR_variant,,ENST00000409110,;SAG,downstream_gene_variant,,ENST00000449594,;RP11-400N9.1,downstream_gene_variant,,ENST00000563747,;SAG,non_coding_transcript_exon_variant,,ENST00000492629,;SAG,non_coding_transcript_exon_variant,,ENST00000412969,;SAG,non_coding_transcript_exon_variant,,ENST00000474220,;SAG,non_coding_transcript_exon_variant,,ENST00000476500,;SAG,non_coding_transcript_exon_variant,,ENST00000471884,;SAG,downstream_gene_variant,,ENST00000483231,;SAG,downstream_gene_variant,,ENST00000469222,;	1463	116	141	SUCCESS
CCNA2	890	.	GRCh37	4	122738770	122738770	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	28	99	0	ENST00000274026.5:c.*23T>C			ENST00000274026	NM_001237.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3723.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTTAGAAAACA	NONE	.	.	.	.	.	ENSP00000274026	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000274026	Transcript	.	.	ENSG00000145386	1578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCNA2_HUMAN	CCNA2	HGNC	.	.	UPI000013D9E8	SNV	CCNA2,3_prime_UTR_variant,,ENST00000274026,;EXOSC9,downstream_gene_variant,,ENST00000379663,;EXOSC9,downstream_gene_variant,,ENST00000243498,;EXOSC9,downstream_gene_variant,,ENST00000512454,;EXOSC9,downstream_gene_variant,,ENST00000511132,;EXOSC9,downstream_gene_variant,,ENST00000503139,;EXOSC9,downstream_gene_variant,,ENST00000508212,;EXOSC9,downstream_gene_variant,,ENST00000509980,;EXOSC9,downstream_gene_variant,,ENST00000503236,;EXOSC9,downstream_gene_variant,,ENST00000513654,;	1626	99	83	SUCCESS
TKTL2	84076	.	GRCh37	4	164392760	164392760	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs748308201	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	18	0	ENST00000280605.3:c.*246C>A			ENST00000280605	NM_032136.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3805.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATTGCTTAC	NONE	.	.	.	.	.	ENSP00000280605	.	1/1	.	.	.	.	.	.	.	.	rs748308201	1/1	PASS	ENST00000280605	Transcript	.	.	ENSG00000151005	25313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TKTL2_HUMAN	TKTL2	HGNC	Q96LZ0_HUMAN,Q8ND81_HUMAN	.	UPI0000037C67	SNV	TKTL2,3_prime_UTR_variant,,ENST00000280605,;	2288	18	14	SUCCESS
Z95704.4	0	.	GRCh37	4	53384	53384	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	5	79	0				ENST00000596885		1		0	.	.	.	.	.	A	M/K	protein_coding	YES	.	2	MUTECT|MUSE	.	GGAAATGGTGA	NONE	.	.	hmmpanther:PTHR23232:SF44,hmmpanther:PTHR23232	.	.	ENSP00000437878	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000526473	Transcript	.	.	ENSG00000197701	27196	.	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.224)	.	deleterious_low_confidence(0)	.	.	ZNF595	HGNC	F5H663_HUMAN	.	UPI00020651F4	SNV	ZNF595,start_lost,p.Met1?,ENST00000526473,;ZNF595,start_lost,p.Met1?,ENST00000509152,;ZNF595,splice_region_variant,,ENST00000339368,;ZNF595,splice_region_variant,,ENST00000512065,;ZNF595,splice_region_variant,,ENST00000507368,;Z95704.4,upstream_gene_variant,,ENST00000596885,;ZNF595,splice_region_variant,,ENST00000502981,;Z95704.4,upstream_gene_variant,,ENST00000503774,;	175	79	101	SUCCESS
TMPRSS11B	132724	.	GRCh37	4	69093439	69093439	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	9	0	ENST00000332644.5:c.*190T>C			ENST00000332644	NM_182502.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3521.1	.	MUTECT|MUSE	.	CTCTTACATTA	NONE	.	.	.	.	.	ENSP00000330475	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000332644	Transcript	.	.	ENSG00000185873	25398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM11B_HUMAN	TMPRSS11B	HGNC	.	.	UPI000013E249	SNV	TMPRSS11B,3_prime_UTR_variant,,ENST00000332644,;TMPRSS11B,downstream_gene_variant,,ENST00000510856,;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;RP11-646E20.6,intron_variant,,ENST00000514295,;	1603	9	12	SUCCESS
HS3ST5	222537	.	GRCh37	6	114378287	114378287	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	22	0	ENST00000312719.5:c.*134G>A			ENST00000312719				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34517.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGGTCACACA	NONE	.	.	.	.	.	ENSP00000427888	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000312719	Transcript	.	.	ENSG00000249853	19419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HS3S5_HUMAN	HS3ST5	HGNC	.	.	UPI00000740A8	SNV	HS3ST5,3_prime_UTR_variant,,ENST00000411826,;HS3ST5,3_prime_UTR_variant,,ENST00000312719,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;RP3-399L15.3,intron_variant,,ENST00000519104,;	2364	22	24	SUCCESS
RNF182	221687	.	GRCh37	6	13979923	13979924	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs1235884162	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	66	33	115	0	ENST00000488300.1:c.*1836dup			ENST00000488300	NM_152737.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4531.1	.	INDELOCATOR|VARSCANI	.	GTAAGGTTTTT	NONE	.	.	.	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	insertion	RNF182,3_prime_UTR_variant,,ENST00000537663,;RNF182,3_prime_UTR_variant,,ENST00000544682,;RNF182,3_prime_UTR_variant,,ENST00000488300,;RNF182,3_prime_UTR_variant,,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000488763,;	3096-3097	115	100	SUCCESS
POM121L12	285877	.	GRCh37	7	53104286	53104286	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	22	48	0	ENST00000408890.4:c.*31A>T			ENST00000408890	NM_182595.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43584.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGACACAA	NONE	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,3_prime_UTR_variant,,ENST00000408890,;	938	48	56	SUCCESS
UNC5D	137970	.	GRCh37	8	35648229	35648229	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-DD-AAW1-01	TCGA-DD-AAW1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	13	0				ENST00000404895	NM_080872.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6093.2	.	MUTECT|MUSE	.	AATTTTATATA	NONE	.	86	.	.	.	ENSP00000385143	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000404895	Transcript	.	.	ENSG00000156687	18634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UNC5D_HUMAN	UNC5D	HGNC	.	.	UPI00001D6915	SNV	UNC5D,3_prime_UTR_variant,,ENST00000449677,;UNC5D,3_prime_UTR_variant,,ENST00000453357,;UNC5D,3_prime_UTR_variant,,ENST00000416672,;UNC5D,3_prime_UTR_variant,,ENST00000287272,;UNC5D,3_prime_UTR_variant,,ENST00000420357,;UNC5D,downstream_gene_variant,,ENST00000404895,;AC012215.1,upstream_gene_variant,,ENST00000437887,;	.	13	19	SUCCESS
AQP11	282679	.	GRCh37	11	77320592	77320592	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	13	0	ENST00000313578.3:c.*170A>T			ENST00000313578	NM_173039.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8251.1	.	RADIA|MUTECT|MUSE	.	CTGTGAAAATG	NONE	.	.	.	.	.	ENSP00000318770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000313578	Transcript	.	.	ENSG00000178301	19940	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AQP11_HUMAN	AQP11	HGNC	.	.	UPI000003B106	SNV	AQP11,3_prime_UTR_variant,,ENST00000313578,;CLNS1A,downstream_gene_variant,,ENST00000525428,;AQP11,non_coding_transcript_exon_variant,,ENST00000528638,;CLNS1A,downstream_gene_variant,,ENST00000533957,;CLNS1A,intron_variant,,ENST00000526761,;	1344	13	11	SUCCESS
AQP11	282679	.	GRCh37	11	77320602	77320602	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	12	0	ENST00000313578.3:c.*180A>C			ENST00000313578	NM_173039.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8251.1	.	MUTECT|MUSE	.	GAGGTATTCTG	NONE	.	.	.	.	.	ENSP00000318770	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000313578	Transcript	.	.	ENSG00000178301	19940	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AQP11_HUMAN	AQP11	HGNC	.	.	UPI000003B106	SNV	AQP11,3_prime_UTR_variant,,ENST00000313578,;CLNS1A,downstream_gene_variant,,ENST00000525428,;AQP11,non_coding_transcript_exon_variant,,ENST00000528638,;CLNS1A,downstream_gene_variant,,ENST00000533957,;CLNS1A,intron_variant,,ENST00000526761,;	1354	12	8	SUCCESS
CREBZF	58487	.	GRCh37	11	85373569	85373569	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	16	31	0	ENST00000490820.2:c.*288-68T>G			ENST00000490820				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41697.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAAGAATT	NONE	.	.	.	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	SNV	CREBZF,3_prime_UTR_variant,,ENST00000527447,;CREBZF,intron_variant,,ENST00000398294,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,intron_variant,,ENST00000260058,;CREBZF,intron_variant,,ENST00000528889,;CREBZF,intron_variant,,ENST00000525639,;CREBZF,intron_variant,,ENST00000527529,;CREBZF,intron_variant,,ENST00000528561,;CREBZF,intron_variant,,ENST00000490820,;	2578	31	45	SUCCESS
IL31	386653	.	GRCh37	12	122656863	122656863	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	4	23	0	ENST00000377035.1:c.*96C>A			ENST00000377035	NM_001014336.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31919.1	.	MUTECT|MUSE|VARSCANS	.	AAAATGTACTT	NONE	.	.	.	.	.	ENSP00000366234	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377035	Transcript	.	.	ENSG00000204671	19372	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IL31_HUMAN	IL31	HGNC	.	.	UPI00003BF6FE	SNV	IL31,3_prime_UTR_variant,,ENST00000377035,;LRRC43,intron_variant,,ENST00000537729,;	618	23	33	SUCCESS
ITPRIPL2	162073	.	GRCh37	16	19132550	19132550	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	77	44	106	0	ENST00000381440.3:c.*5159G>T			ENST00000381440	NM_001034841.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32395.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAAGTATCT	NONE	.	.	.	.	.	ENSP00000370849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381440	Transcript	.	.	ENSG00000205730	27257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPIL2_HUMAN	ITPRIPL2	HGNC	.	.	UPI000023760C	SNV	ITPRIPL2,3_prime_UTR_variant,,ENST00000381440,;ITPRIPL2,downstream_gene_variant,,ENST00000566735,;RP11-626G11.3,non_coding_transcript_exon_variant,,ENST00000567236,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;	7297	106	121	SUCCESS
CCNF	899	.	GRCh37	16	2507153	2507153	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	16	0	ENST00000397066.4:c.*132A>T			ENST00000397066	NM_001761.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10467.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCCACCAAG	NONE	.	.	.	.	.	ENSP00000380256	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000397066	Transcript	.	.	ENSG00000162063	1591	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCNF_HUMAN	CCNF	HGNC	.	.	UPI0000127595	SNV	CCNF,3_prime_UTR_variant,,ENST00000397066,;C16orf59,upstream_gene_variant,,ENST00000361837,;C16orf59,upstream_gene_variant,,ENST00000569496,;C16orf59,upstream_gene_variant,,ENST00000567489,;C16orf59,upstream_gene_variant,,ENST00000563531,;C16orf59,upstream_gene_variant,,ENST00000568753,;C16orf59,upstream_gene_variant,,ENST00000483320,;RP11-715J22.4,intron_variant,,ENST00000566085,;RP11-715J22.4,intron_variant,,ENST00000565827,;RP11-715J22.3,upstream_gene_variant,,ENST00000561653,;CCNF,3_prime_UTR_variant,,ENST00000293968,;C16orf59,upstream_gene_variant,,ENST00000569994,;C16orf59,upstream_gene_variant,,ENST00000562253,;C16orf59,upstream_gene_variant,,ENST00000569665,;C16orf59,upstream_gene_variant,,ENST00000569664,;C16orf59,upstream_gene_variant,,ENST00000565537,;C16orf59,upstream_gene_variant,,ENST00000565716,;C16orf59,upstream_gene_variant,,ENST00000566580,;	2581	16	31	SUCCESS
PRRT2	112476	.	GRCh37	16	29826044	29826044	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	9	14	0	ENST00000358758.7:c.*85T>C			ENST00000358758	NM_001256442.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58445.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGATGGCCC	NONE	.	.	.	.	.	ENSP00000456226	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000567659	Transcript	.	.	ENSG00000167371	30500	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRRT2_HUMAN	PRRT2	HGNC	H3BN10_HUMAN	.	UPI00000712B6	SNV	PRRT2,3_prime_UTR_variant,,ENST00000567659,;PRRT2,3_prime_UTR_variant,,ENST00000300797,;PRRT2,3_prime_UTR_variant,,ENST00000358758,;PAGR1,upstream_gene_variant,,ENST00000320330,;MAZ,downstream_gene_variant,,ENST00000562594,;PRRT2,downstream_gene_variant,,ENST00000562148,;MAZ,downstream_gene_variant,,ENST00000545521,;MAZ,downstream_gene_variant,,ENST00000566906,;MAZ,downstream_gene_variant,,ENST00000568544,;MAZ,downstream_gene_variant,,ENST00000563012,;MAZ,downstream_gene_variant,,ENST00000568282,;MAZ,downstream_gene_variant,,ENST00000219782,;MAZ,downstream_gene_variant,,ENST00000562337,;PRRT2,downstream_gene_variant,,ENST00000572820,;MAZ,downstream_gene_variant,,ENST00000563402,;MAZ,downstream_gene_variant,,ENST00000568411,;PAGR1,upstream_gene_variant,,ENST00000609618,;MAZ,downstream_gene_variant,,ENST00000322945,;AC009133.20,intron_variant,,ENST00000569039,;AC009133.12,downstream_gene_variant,,ENST00000569809,;AC009133.14,upstream_gene_variant,,ENST00000569981,;AC009133.12,downstream_gene_variant,,ENST00000564980,;PRRT2,downstream_gene_variant,,ENST00000567551,;MAZ,downstream_gene_variant,,ENST00000568516,;MAZ,downstream_gene_variant,,ENST00000561855,;MAZ,downstream_gene_variant,,ENST00000565777,;PAGR1,upstream_gene_variant,,ENST00000562285,;	1468	14	15	SUCCESS
GDPD1	284161	.	GRCh37	17	57351222	57351222	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	23	0	ENST00000284116.4:c.*88A>T			ENST00000284116	NM_182569.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11616.1	.	MUTECT|MUSE	.	CCAGAATGGTA	NONE	.	.	.	.	.	ENSP00000284116	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000284116	Transcript	.	.	ENSG00000153982	20883	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GDPD1_HUMAN	GDPD1	HGNC	J3QRR6_HUMAN	.	UPI000019850B	SNV	GDPD1,3_prime_UTR_variant,,ENST00000284116,;GDPD1,intron_variant,,ENST00000581140,;GDPD1,downstream_gene_variant,,ENST00000581276,;GDPD1,splice_region_variant,,ENST00000579076,;GDPD1,downstream_gene_variant,,ENST00000579020,;GDPD1,downstream_gene_variant,,ENST00000578026,;	1170	23	36	SUCCESS
GJC2	57165	.	GRCh37	1	228346869	228346869	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	486	194	347	0	ENST00000366714.2:c.*90A>T			ENST00000366714	NM_020435.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1569.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTAGCCGG	NONE	.	.	.	.	.	ENSP00000355675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366714	Transcript	.	.	ENSG00000198835	17494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXG2_HUMAN	GJC2	HGNC	.	.	UPI000034ECE8	SNV	GJC2,3_prime_UTR_variant,,ENST00000366714,;IBA57-AS1,downstream_gene_variant,,ENST00000366713,;IBA57-AS1,downstream_gene_variant,,ENST00000496552,;	1585	348	681	SUCCESS
GJC2	57165	.	GRCh37	1	228347469	228347469	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	124	12	68	0	ENST00000366714.2:c.*690C>T			ENST00000366714	NM_020435.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1569.1	.	MUTECT|MUSE	.	TCCTCCCTAAT	NONE	.	.	.	.	.	ENSP00000355675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366714	Transcript	.	.	ENSG00000198835	17494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CXG2_HUMAN	GJC2	HGNC	.	.	UPI000034ECE8	SNV	GJC2,3_prime_UTR_variant,,ENST00000366714,;IBA57-AS1,downstream_gene_variant,,ENST00000366713,;IBA57-AS1,downstream_gene_variant,,ENST00000496552,;	2185	68	136	SUCCESS
B3GALT5	10317	.	GRCh37	21	41034557	41034557	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	55	130	0	ENST00000343118.4:c.*1138G>C			ENST00000343118	NM_033171.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13667.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTGGTTTGC	NONE	.	.	.	.	.	ENSP00000369994	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000380620	Transcript	.	.	ENSG00000183778	920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GT5_HUMAN	B3GALT5	HGNC	.	.	UPI0000126713	SNV	B3GALT5,3_prime_UTR_variant,,ENST00000380620,;B3GALT5,3_prime_UTR_variant,,ENST00000398714,;B3GALT5,3_prime_UTR_variant,,ENST00000343118,;B3GALT5,3_prime_UTR_variant,,ENST00000380618,;AF064860.5,intron_variant,,ENST00000416555,;	2663	130	126	SUCCESS
SOX11	6664	.	GRCh37	2	5840844	5840844	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1383331207	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	60	110	0	ENST00000322002.3:c.*6665C>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTCCGGTTT	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	8046	110	149	SUCCESS
C2orf74	339804	.	GRCh37	2	61391910	61391910	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1277108635	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000432605.1:c.*248A>G			ENST00000432605	NM_001143959.1			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AAACTATCTAC	NONE	.	.	.	.	.	ENSP00000402915	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000432605	Transcript	.	.	ENSG00000237651	34439	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CB074_HUMAN	C2orf74	HGNC	C9JBF1_HUMAN	.	UPI00018E24F1	SNV	C2orf74,3_prime_UTR_variant,,ENST00000432605,;C2orf74,3_prime_UTR_variant,,ENST00000426997,;RP11-493E12.1,upstream_gene_variant,,ENST00000605902,;RP11-493E12.1,upstream_gene_variant,,ENST00000607743,;RP11-493E12.1,upstream_gene_variant,,ENST00000606876,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000462959,;KIAA1841,downstream_gene_variant,,ENST00000464909,;KIAA1841,downstream_gene_variant,,ENST00000489686,;KIAA1841,downstream_gene_variant,,ENST00000488469,;KIAA1841,downstream_gene_variant,,ENST00000398622,;	833	8	10	SUCCESS
COA5	493753	.	GRCh37	2	99217050	99217050	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	16	0	ENST00000328709.3:c.*165A>G			ENST00000328709	NM_001008215.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33257.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTATACATA	NONE	.	.	.	.	.	ENSP00000330730	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328709	Transcript	.	.	ENSG00000183513	33848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COA5_HUMAN	COA5	HGNC	.	.	UPI000000DC43	SNV	COA5,3_prime_UTR_variant,,ENST00000328709,;COA5,downstream_gene_variant,,ENST00000409997,;COA5,non_coding_transcript_exon_variant,,ENST00000466848,;COA5,non_coding_transcript_exon_variant,,ENST00000483527,;COA5,non_coding_transcript_exon_variant,,ENST00000480666,;	477	16	26	SUCCESS
PRDM8	56978	.	GRCh37	4	81124806	81124806	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	11	0	ENST00000339711.4:c.*120C>T			ENST00000339711	NM_020226.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43243.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATACATTCA	NONE	.	.	.	.	.	ENSP00000339764	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000339711	Transcript	1	.	ENSG00000152784	13993	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM8_HUMAN	PRDM8	HGNC	Q05CA1_HUMAN,E9PEH0_HUMAN	.	UPI0000422A1D	SNV	PRDM8,3_prime_UTR_variant,,ENST00000504452,;PRDM8,3_prime_UTR_variant,,ENST00000339711,;PRDM8,3_prime_UTR_variant,,ENST00000415738,;PRDM8,downstream_gene_variant,,ENST00000515013,;	3421	11	16	SUCCESS
HTRA3	94031	.	GRCh37	4	8307982	8307982	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	6	21	0	ENST00000307358.2:c.*119C>T			ENST00000307358	NM_053044.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3400.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTGGCTGTCC	NONE	.	.	.	.	.	ENSP00000303766	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000307358	Transcript	.	.	ENSG00000170801	30406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HTRA3_HUMAN	HTRA3	HGNC	.	.	UPI0000001647	SNV	HTRA3,3_prime_UTR_variant,,ENST00000307358,;	1685	21	20	SUCCESS
YIPF5	81555	.	GRCh37	5	143539947	143539947	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	72	86	1	ENST00000274496.5:c.*14A>T			ENST00000274496	NM_030799.8			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4279.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACATCCCAG	NONE	.	.	.	.	.	ENSP00000274496	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000274496	Transcript	.	.	ENSG00000145817	24877	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	YIPF5_HUMAN	YIPF5	HGNC	E5RHH4_HUMAN,E5RGR9_HUMAN	.	UPI00000474FE	SNV	YIPF5,3_prime_UTR_variant,,ENST00000274496,;YIPF5,3_prime_UTR_variant,,ENST00000513112,;YIPF5,3_prime_UTR_variant,,ENST00000448443,;YIPF5,downstream_gene_variant,,ENST00000522203,;YIPF5,downstream_gene_variant,,ENST00000519064,;YIPF5,downstream_gene_variant,,ENST00000508754,;	923	87	121	SUCCESS
FAM174A	345757	.	GRCh37	5	99922152	99922152	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs75666553	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	24	0	ENST00000312637.4:c.*264C>T			ENST00000312637	NM_198507.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS4090.1	.	MUTECT|MUSE	.	TAAAACGGTGT	NONE	byFrequency|byCluster|by1000G	.	.	T:0.005	.	ENSP00000307954	T:0	3/3	.	.	.	.	.	.	.	.	rs75666553	3/3	PASS	ENST00000312637	Transcript	.	T:0.0010	ENSG00000174132	24943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	F174A_HUMAN	FAM174A	HGNC	.	.	UPI000004BA6F	SNV	FAM174A,3_prime_UTR_variant,,ENST00000312637,;FAM174A,non_coding_transcript_exon_variant,,ENST00000505792,;FAM174A,downstream_gene_variant,,ENST00000509040,;	1063	24	28	SUCCESS
POU3F2	5454	.	GRCh37	6	99284456	99284456	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	49	0	ENST00000328345.5:c.*375C>A			ENST00000328345	NM_005604.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5040.1	.	MUTECT|MUSE|VARSCANS	.	AAAATCCACCA	NONE	.	.	.	.	.	ENSP00000329170	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328345	Transcript	.	.	ENSG00000184486	9215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PO3F2_HUMAN	POU3F2	HGNC	.	.	UPI000016A1E7	SNV	POU3F2,3_prime_UTR_variant,,ENST00000328345,;	1877	49	34	SUCCESS
MTPN	136319	.	GRCh37	7	135612931	135612931	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	155	7	81	0	ENST00000393085.3:c.*1743T>C			ENST00000393085	NM_145808.3			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AAAGTATTTAA	NONE	.	.	.	.	.	ENSP00000396652	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000416501	Transcript	.	.	ENSG00000236338	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC015987.2	Clone_based_ensembl_gene	Q9H388_HUMAN	.	UPI0000070C6D	SNV	AC015987.2,3_prime_UTR_variant,,ENST00000416501,;MTPN,3_prime_UTR_variant,,ENST00000393085,;LUZP6,upstream_gene_variant,,ENST00000589735,;MTPN,downstream_gene_variant,,ENST00000435723,;AC015987.1,intron_variant,,ENST00000419211,;	1390	81	162	SUCCESS
PKIA	5569	.	GRCh37	8	79514160	79514160	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	11	0	ENST00000352966.5:c.*104T>A			ENST00000352966				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6222.1	.	MUTECT|MUSE	.	ATGGCTGTGCT	NONE	.	.	.	.	.	ENSP00000379696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000396418	Transcript	.	.	ENSG00000171033	9017	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IPKA_HUMAN	PKIA	HGNC	.	.	UPI0000000298	SNV	PKIA,3_prime_UTR_variant,,ENST00000396418,;PKIA,3_prime_UTR_variant,,ENST00000518467,;PKIA,3_prime_UTR_variant,,ENST00000352966,;RP11-594N15.3,upstream_gene_variant,,ENST00000565862,;	821	11	54	SUCCESS
CT83	203413	.	GRCh37	X	115590262	115590262	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	78	53	2				ENST00000371894	NM_001017978.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14570.1	.	SOMATICSNIPER|VARSCANS	.	AGCAGGAATGC	NONE	.	.	.	.	.	ENSP00000360967	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000371900	Transcript	.	.	ENSG00000087916	11047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S6A14_HUMAN	SLC6A14	HGNC	.	.	UPI0000072E3C	SNV	SLC6A14,3_prime_UTR_variant,,ENST00000371900,;CT83,downstream_gene_variant,,ENST00000371894,;SLC6A14,downstream_gene_variant,,ENST00000463626,;	2158	55	83	SUCCESS
ZRSR2	8233	.	GRCh37	X	15841369	15841369	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW2-01	TCGA-DD-AAW2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	149	116	119	0	ENST00000307771.7:c.*4A>T			ENST00000307771	NM_005089.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14172.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACTAGTTTT	NONE	.	.	.	.	.	ENSP00000303015	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000307771	Transcript	.	.	ENSG00000169249	23019	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	U2AFM_HUMAN	ZRSR2	HGNC	.	.	UPI0000137929	SNV	ZRSR2,3_prime_UTR_variant,,ENST00000307771,;AP1S2,downstream_gene_variant,,ENST00000452376,;AP1S2,downstream_gene_variant,,ENST00000329235,;	1477	119	266	SUCCESS
SLC18A2	6571	.	GRCh37	10	119036806	119036806	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	21	42	1	ENST00000298472.5:c.*29T>C			ENST00000298472	NM_003054.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7599.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGTTTAAT	NONE	.	.	.	.	.	ENSP00000298472	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000298472	Transcript	1	.	ENSG00000165646	10935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VMAT2_HUMAN	SLC18A2	HGNC	.	.	UPI00001389DE	SNV	SLC18A2,3_prime_UTR_variant,,ENST00000298472,;PDZD8,downstream_gene_variant,,ENST00000334464,;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	1717	43	32	SUCCESS
CCDC122	160857	.	GRCh37	13	44411411	44411411	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	39	0	ENST00000444614.3:c.*5G>T			ENST00000444614	NM_144974.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9390.2	.	RADIA|MUTECT|MUSE	.	TATGGCAATGT	NONE	.	.	.	.	.	ENSP00000407763	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000444614	Transcript	.	.	ENSG00000151773	26478	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC122_HUMAN	CCDC122	HGNC	.	.	UPI0000470101	SNV	CCDC122,3_prime_UTR_variant,,ENST00000444614,;CCDC122,intron_variant,,ENST00000470137,;	1086	39	44	SUCCESS
EFS	10278	.	GRCh37	14	23826232	23826232	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000216733.3:c.*203T>A			ENST00000216733	NM_005864.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9595.1	.	MUTECT|MUSE	.	TAAATAATTTA	NONE	.	.	.	.	.	ENSP00000216733	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000216733	Transcript	.	.	ENSG00000100842	16898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EFS_HUMAN	EFS	HGNC	.	.	UPI0000129D21	SNV	EFS,3_prime_UTR_variant,,ENST00000351354,;EFS,3_prime_UTR_variant,,ENST00000216733,;EFS,3_prime_UTR_variant,,ENST00000429593,;SLC22A17,upstream_gene_variant,,ENST00000354772,;SLC22A17,upstream_gene_variant,,ENST00000206544,;SLC22A17,upstream_gene_variant,,ENST00000397267,;SLC22A17,upstream_gene_variant,,ENST00000397260,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;SLC22A17,upstream_gene_variant,,ENST00000474057,;SLC22A17,upstream_gene_variant,,ENST00000556803,;SLC22A17,upstream_gene_variant,,ENST00000557699,;	2497	12	10	SUCCESS
RSL24D1	51187	.	GRCh37	15	55474114	55474114	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	17	0	ENST00000260443.4:c.*236A>G			ENST00000260443	NM_016304.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10152.1	.	MUTECT|MUSE	.	TTCTATAGTTA	NONE	.	.	.	.	.	ENSP00000260443	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000260443	Transcript	.	.	ENSG00000137876	18479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RLP24_HUMAN	RSL24D1	HGNC	.	.	UPI0000073C55	SNV	RSL24D1,3_prime_UTR_variant,,ENST00000260443,;RSL24D1,downstream_gene_variant,,ENST00000562993,;	905	17	19	SUCCESS
PAXBP1	94104	.	GRCh37	21	34107136	34107136	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	30	0	ENST00000331923.4:c.*125A>C			ENST00000331923	NM_016631.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13619.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTATTGAATA	NONE	.	.	.	.	.	ENSP00000328992	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000331923	Transcript	.	.	ENSG00000159086	13579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAXB1_HUMAN	PAXBP1	HGNC	Q9NZD7_HUMAN,Q8N6E6_HUMAN,Q8N2J1_HUMAN,B3KY25_HUMAN	.	UPI000012B294	SNV	PAXBP1,3_prime_UTR_variant,,ENST00000331923,;PAXBP1-AS1,intron_variant,,ENST00000455170,;PAXBP1-AS1,intron_variant,,ENST00000440052,;PAXBP1-AS1,downstream_gene_variant,,ENST00000458479,;PAXBP1,3_prime_UTR_variant,,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000466846,;PAXBP1,downstream_gene_variant,,ENST00000497873,;	3069	30	19	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131805744	131805744	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs1220015496	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	22	31	0				ENST00000326016	NM_015320.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42755.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATCATTTT	NONE	.	.	.	.	.	ENSP00000387051	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000409185	Transcript	.	.	ENSG00000152102	27016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F168B_HUMAN	FAM168B	HGNC	.	.	UPI0000160B21	SNV	FAM168B,3_prime_UTR_variant,,ENST00000409185,;ARHGEF4,downstream_gene_variant,,ENST00000326016,;ARHGEF4,downstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000355771,;ARHGEF4,downstream_gene_variant,,ENST00000392953,;ARHGEF4,downstream_gene_variant,,ENST00000532720,;ARHGEF4,downstream_gene_variant,,ENST00000525839,;ARHGEF4,downstream_gene_variant,,ENST00000438985,;FAM168B,downstream_gene_variant,,ENST00000389915,;ARHGEF4,downstream_gene_variant,,ENST00000409303,;ARHGEF4,downstream_gene_variant,,ENST00000490728,;ARHGEF4,downstream_gene_variant,,ENST00000527365,;ARHGEF4,downstream_gene_variant,,ENST00000525092,;	4990	31	42	SUCCESS
FSTL1	11167	.	GRCh37	3	120115689	120115689	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs766430327	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	21	0	ENST00000295633.3:c.*110A>G			ENST00000295633	NM_007085.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCTATATAAG	NONE	.	.	.	.	.	ENSP00000295633	.	11/11	.	.	.	.	.	.	.	.	rs766430327	11/11	PASS	ENST00000295633	Transcript	.	.	ENSG00000163430	3972	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSTL1_HUMAN	FSTL1	HGNC	Q9BZQ0_HUMAN,C9J5G4_HUMAN	.	UPI00000422DB	SNV	FSTL1,3_prime_UTR_variant,,ENST00000480823,;FSTL1,3_prime_UTR_variant,,ENST00000295633,;FSTL1,3_prime_UTR_variant,,ENST00000424703,;FSTL1,downstream_gene_variant,,ENST00000488318,;	1394	21	18	SUCCESS
OPRM1	4988	.	GRCh37	6	154360440	154360440	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	37	75	0				ENST00000330432	NM_000914.3	49		0	.	.	.	.	.	T	A/S	protein_coding	YES	CCDS47503.1	145	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCAGGTGAT	NONE	.	.	.	.	.	ENSP00000394624	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.002)	.	deleterious_low_confidence(0.04)	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Ala49Ser,ENST00000434900,;OPRM1,intron_variant,,ENST00000520282,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,upstream_gene_variant,,ENST00000337049,;OPRM1,upstream_gene_variant,,ENST00000428397,;OPRM1,upstream_gene_variant,,ENST00000360422,;OPRM1,upstream_gene_variant,,ENST00000452687,;OPRM1,upstream_gene_variant,,ENST00000330432,;OPRM1,upstream_gene_variant,,ENST00000435918,;OPRM1,upstream_gene_variant,,ENST00000414028,;OPRM1,upstream_gene_variant,,ENST00000419506,;OPRM1,upstream_gene_variant,,ENST00000524163,;OPRM1,upstream_gene_variant,,ENST00000229768,;OPRM1,upstream_gene_variant,,ENST00000523520,;OPRM1,upstream_gene_variant,,ENST00000522739,;OPRM1,upstream_gene_variant,,ENST00000519083,;OPRM1,upstream_gene_variant,,ENST00000524150,;	663	75	48	SUCCESS
AKR1D1	6718	.	GRCh37	7	137801545	137801545	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	9	0	ENST00000242375.3:c.*137T>A			ENST00000242375	NM_005989.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5846.1	.	MUTECT|MUSE	.	TAATGTTTGTG	NONE	.	.	.	.	.	ENSP00000242375	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000242375	Transcript	.	.	ENSG00000122787	388	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AK1D1_HUMAN	AKR1D1	HGNC	C4PL35_HUMAN	.	UPI0000125764	SNV	AKR1D1,3_prime_UTR_variant,,ENST00000432161,;AKR1D1,3_prime_UTR_variant,,ENST00000411726,;AKR1D1,3_prime_UTR_variant,,ENST00000242375,;snoU13,upstream_gene_variant,,ENST00000458991,;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;	1160	9	12	SUCCESS
FAM83A	84985	.	GRCh37	8	124219945	124219945	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	11	23	0	ENST00000518448.1:c.*17T>G			ENST00000518448				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6340.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCTGCCCT	NONE	.	.	.	.	.	ENSP00000428876	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000518448	Transcript	.	.	ENSG00000147689	28210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA83A_HUMAN	FAM83A	HGNC	.	.	UPI000019275C	SNV	FAM83A,3_prime_UTR_variant,,ENST00000518448,;FAM83A,3_prime_UTR_variant,,ENST00000318462,;FAM83A,intron_variant,,ENST00000522648,;FAM83A,intron_variant,,ENST00000536633,;FAM83A,intron_variant,,ENST00000276699,;FAM83A,intron_variant,,ENST00000546351,;FAM83A-AS1,upstream_gene_variant,,ENST00000517519,;FAM83A-AS1,upstream_gene_variant,,ENST00000523330,;FAM83A-AS1,upstream_gene_variant,,ENST00000520576,;	3336	23	54	SUCCESS
AMELX	265	.	GRCh37	X	11318739	11318739	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-DD-AAW3-01	TCGA-DD-AAW3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	170	234	0	ENST00000380714.3:c.*7A>T			ENST00000380714	NM_001142.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14145.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCAGAAGA	NONE	.	.	.	.	.	ENSP00000370088	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000380712	Transcript	.	.	ENSG00000125363	461	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMELX_HUMAN	AMELX	HGNC	B2BY28_HUMAN	.	UPI000002A3B7	SNV	AMELX,3_prime_UTR_variant,,ENST00000380712,;AMELX,3_prime_UTR_variant,,ENST00000380714,;AMELX,3_prime_UTR_variant,,ENST00000348912,;ARHGAP6,intron_variant,,ENST00000380718,;ARHGAP6,intron_variant,,ENST00000337414,;ARHGAP6,intron_variant,,ENST00000380732,;ARHGAP6,intron_variant,,ENST00000380736,;ARHGAP6,intron_variant,,ENST00000413512,;ARHGAP6,intron_variant,,ENST00000495242,;ARHGAP6,intron_variant,,ENST00000489330,;	693	234	193	SUCCESS
LRRC18	474354	.	GRCh37	10	50121419	50121419	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	36	131	1	ENST00000298124.3:c.*14C>A			ENST00000298124				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31197.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGGGTCAG	NONE	.	.	.	.	.	ENSP00000363275	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374160	Transcript	.	.	ENSG00000165383	23199	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC18_HUMAN	LRRC18	HGNC	.	.	UPI00001F98A9	SNV	LRRC18,3_prime_UTR_variant,,ENST00000298124,;WDFY4,intron_variant,,ENST00000413659,;WDFY4,intron_variant,,ENST00000325239,;WDFY4,intron_variant,,ENST00000265453,;LRRC18,intron_variant,,ENST00000374160,;RP11-523O18.7,intron_variant,,ENST00000430438,;	.	132	127	SUCCESS
CREBZF	58487	.	GRCh37	11	85373221	85373221	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	30	0	ENST00000490820.2:c.*568A>G			ENST00000490820				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41697.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGGTCTCAA	NONE	.	.	.	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	SNV	CREBZF,3_prime_UTR_variant,,ENST00000398294,;CREBZF,3_prime_UTR_variant,,ENST00000527447,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,3_prime_UTR_variant,,ENST00000490820,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528889,;CREBZF,intron_variant,,ENST00000260058,;CREBZF,intron_variant,,ENST00000525639,;CREBZF,intron_variant,,ENST00000527529,;CREBZF,intron_variant,,ENST00000528561,;	2926	30	29	SUCCESS
CREBZF	58487	.	GRCh37	11	85374604	85374604	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	120	9	117	0	ENST00000490820.2:c.*251A>T			ENST00000490820				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41697.1	.	MUTECT|MUSE	.	ACCCCTACAAC	NONE	.	.	.	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	SNV	CREBZF,missense_variant,p.Arg32Trp,ENST00000534224,;CREBZF,3_prime_UTR_variant,,ENST00000398294,;CREBZF,3_prime_UTR_variant,,ENST00000527447,;CREBZF,non_coding_transcript_exon_variant,,ENST00000531515,;CREBZF,3_prime_UTR_variant,,ENST00000260058,;CREBZF,3_prime_UTR_variant,,ENST00000525639,;CREBZF,3_prime_UTR_variant,,ENST00000527529,;CREBZF,3_prime_UTR_variant,,ENST00000490820,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528889,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528561,;	1543	117	129	SUCCESS
ARL11	115761	.	GRCh37	13	50205503	50205503	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	16	0	ENST00000282026.1:c.*329T>G			ENST00000282026	NM_138450.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9419.1	.	RADIA|MUTECT|MUSE	.	GCCACTGCACT	NONE	.	.	.	.	.	ENSP00000282026	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282026	Transcript	.	.	ENSG00000152213	24046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARL11_HUMAN	ARL11	HGNC	.	.	UPI0000073EDE	SNV	ARL11,3_prime_UTR_variant,,ENST00000282026,;ARL11,intron_variant,,ENST00000490932,;	1255	16	12	SUCCESS
FAM177A1	283635	.	GRCh37	14	35550481	35550481	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	31	0	ENST00000382406.3:c.*47A>C			ENST00000382406				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9653.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAATACAA	NONE	.	.	.	.	.	ENSP00000280987	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000280987	Transcript	.	.	ENSG00000151327	19829	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F177A_HUMAN	FAM177A1	HGNC	G3V583_HUMAN,G3V3Z5_HUMAN	.	UPI00005A8F3C	SNV	FAM177A1,3_prime_UTR_variant,,ENST00000280987,;FAM177A1,3_prime_UTR_variant,,ENST00000396472,;FAM177A1,3_prime_UTR_variant,,ENST00000382406,;PPP2R3C,downstream_gene_variant,,ENST00000261475,;FAM177A1,downstream_gene_variant,,ENST00000554794,;PPP2R3C,downstream_gene_variant,,ENST00000555219,;FAM177A1,3_prime_UTR_variant,,ENST00000555260,;PPP2R3C,downstream_gene_variant,,ENST00000557074,;PPP2R3C,downstream_gene_variant,,ENST00000553273,;PPP2R3C,downstream_gene_variant,,ENST00000554222,;FAM177A1,downstream_gene_variant,,ENST00000553955,;PPP2R3C,downstream_gene_variant,,ENST00000557217,;	819	31	16	SUCCESS
ARF6	382	.	GRCh37	14	50361210	50361210	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	18	0	ENST00000298316.5:c.*228G>T			ENST00000298316	NM_001663.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9695.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GTTAGGATGCT	NONE	.	.	.	.	.	ENSP00000298316	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298316	Transcript	.	.	ENSG00000165527	659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARF6_HUMAN	ARF6	HGNC	.	.	UPI0000021AA1	SNV	ARF6,3_prime_UTR_variant,,ENST00000298316,;	1303	18	14	SUCCESS
ACAA2	10449	.	GRCh37	18	47310188	47310188	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	306	27	429	1	ENST00000285093.10:c.*29C>T			ENST00000285093	NM_006111.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11939.1	.	MUTECT|MUSE|VARSCANS	.	GTAAGGATGGG	NONE	.	.	.	.	.	ENSP00000285093	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000285093	Transcript	.	.	ENSG00000167315	83	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	THIM_HUMAN	ACAA2	HGNC	K7ER88_HUMAN,K7EME0_HUMAN,K7EJB1_HUMAN,K7EJ68_HUMAN	.	UPI000006FECE	SNV	ACAA2,3_prime_UTR_variant,,ENST00000285093,;ACAA2,3_prime_UTR_variant,,ENST00000587994,;ACAA2,3_prime_UTR_variant,,ENST00000589432,;ACAA2,non_coding_transcript_exon_variant,,ENST00000591171,;	1699	430	333	SUCCESS
IVL	3713	.	GRCh37	1	152884235	152884235	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	84	59	119	0	ENST00000368764.3:c.*204T>A			ENST00000368764				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1030.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CAACCTCAGGT	NONE	.	.	.	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,3_prime_UTR_variant,,ENST00000368764,;IVL,3_prime_UTR_variant,,ENST00000392667,;	2026	119	143	SUCCESS
IVL	3713	.	GRCh37	1	152884297	152884297	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	162	8	120	0	ENST00000368764.3:c.*266T>A			ENST00000368764				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1030.1	.	MUTECT|MUSE	.	CCCAGTATTGA	NONE	.	.	.	.	.	ENSP00000357753	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368764	Transcript	.	.	ENSG00000163207	6187	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INVO_HUMAN	IVL	HGNC	J3KPN6_HUMAN	.	UPI000013E24A	SNV	IVL,3_prime_UTR_variant,,ENST00000368764,;IVL,3_prime_UTR_variant,,ENST00000392667,;	2088	120	171	SUCCESS
MAP10	54627	.	GRCh37	1	232944135	232944135	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	5	64	0	ENST00000418460.1:c.*222A>T			ENST00000418460	NM_019090.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44334.1	.	MUTECT|MUSE	.	AGAATAAAAGT	NONE	.	.	.	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,3_prime_UTR_variant,,ENST00000418460,;	3493	65	68	SUCCESS
L3MBTL1	26013	.	GRCh37	20	42169806	42169806	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	47	0	ENST00000427442.2:c.*38A>T			ENST00000427442				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46602.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGATAATTAA	NONE	.	.	.	.	.	ENSP00000402107	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000427442	Transcript	.	.	ENSG00000185513	15905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMBL1_HUMAN	L3MBTL1	HGNC	B0QYN5_HUMAN,B0QYN4_HUMAN	.	UPI0001E18E26	SNV	L3MBTL1,3_prime_UTR_variant,,ENST00000444063,;L3MBTL1,3_prime_UTR_variant,,ENST00000373134,;L3MBTL1,3_prime_UTR_variant,,ENST00000373135,;L3MBTL1,3_prime_UTR_variant,,ENST00000427442,;L3MBTL1,3_prime_UTR_variant,,ENST00000418998,;L3MBTL1,intron_variant,,ENST00000422861,;L3MBTL1,intron_variant,,ENST00000471977,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000494117,;L3MBTL1,downstream_gene_variant,,ENST00000445228,;	2720	47	51	SUCCESS
ATF4	468	.	GRCh37	22	39918660	39918660	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	21	84	0	ENST00000337304.2:c.*53G>T			ENST00000337304	NM_001675.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13996.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTGTGTGTTC	NONE	.	.	.	.	.	ENSP00000336790	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000337304	Transcript	.	.	ENSG00000128272	786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATF4_HUMAN	ATF4	HGNC	Q96AQ3_HUMAN,B4DJD4_HUMAN	.	UPI000000DABF	SNV	ATF4,3_prime_UTR_variant,,ENST00000396680,;ATF4,3_prime_UTR_variant,,ENST00000337304,;ATF4,3_prime_UTR_variant,,ENST00000404241,;MIEF1,downstream_gene_variant,,ENST00000325301,;	1991	84	68	SUCCESS
KCNF1	3754	.	GRCh37	2	11054147	11054147	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	96	42	142	0	ENST00000295082.1:c.*110C>A			ENST00000295082	NM_002236.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1676.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTCCCCTGGA	NONE	.	.	.	.	.	ENSP00000295082	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295082	Transcript	.	.	ENSG00000162975	6246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNF1_HUMAN	KCNF1	HGNC	.	.	UPI000012DC98	SNV	KCNF1,3_prime_UTR_variant,,ENST00000295082,;	2085	142	138	SUCCESS
KCNF1	3754	.	GRCh37	2	11054148	11054148	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	41	142	0	ENST00000295082.1:c.*111C>A			ENST00000295082	NM_002236.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1676.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCCCTGGAC	NONE	.	.	.	.	.	ENSP00000295082	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000295082	Transcript	.	.	ENSG00000162975	6246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNF1_HUMAN	KCNF1	HGNC	.	.	UPI000012DC98	SNV	KCNF1,3_prime_UTR_variant,,ENST00000295082,;	2086	142	135	SUCCESS
MYD88	4615	.	GRCh37	3	38182798	38182798	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs757632544	.	TCGA-ED-A459-01	TCGA-ED-A459-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	117	62	156	1	ENST00000396334.3:c.*21G>A			ENST00000396334	NM_002468.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54565.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGGTGTGT	NONE	byFrequency	.	.	.	.	ENSP00000401399	.	5/5	.	.	.	.	.	.	.	.	rs757632544	5/5	PASS	ENST00000417037	Transcript	.	.	ENSG00000172936	7562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MYD88	HGNC	J3KQJ6_HUMAN,H0Y4G9_HUMAN	.	UPI0000E5A580	SNV	MYD88,3_prime_UTR_variant,,ENST00000443433,;MYD88,3_prime_UTR_variant,,ENST00000396334,;MYD88,3_prime_UTR_variant,,ENST00000417037,;MYD88,3_prime_UTR_variant,,ENST00000424893,;MYD88,3_prime_UTR_variant,,ENST00000421516,;MYD88,3_prime_UTR_variant,,ENST00000495303,;ACAA1,upstream_gene_variant,,ENST00000333167,;ACAA1,upstream_gene_variant,,ENST00000421218,;ACAA1,upstream_gene_variant,,ENST00000444607,;ACAA1,upstream_gene_variant,,ENST00000544624,;ACAA1,upstream_gene_variant,,ENST00000450296,;ACAA1,upstream_gene_variant,,ENST00000301810,;MYD88,non_coding_transcript_exon_variant,,ENST00000481122,;MYD88,downstream_gene_variant,,ENST00000463956,;MYD88,non_coding_transcript_exon_variant,,ENST00000484513,;MYD88,non_coding_transcript_exon_variant,,ENST00000416282,;ACAA1,upstream_gene_variant,,ENST00000411549,;ACAA1,upstream_gene_variant,,ENST00000460424,;MYD88,downstream_gene_variant,,ENST00000460295,;ACAA1,upstream_gene_variant,,ENST00000423611,;ACAA1,upstream_gene_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000440176,;ACAA1,upstream_gene_variant,,ENST00000489559,;ACAA1,upstream_gene_variant,,ENST00000484284,;ACAA1,upstream_gene_variant,,ENST00000447223,;	1159	157	180	SUCCESS
PPM1M	132160	.	GRCh37	3	52283620	52283620	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	7	66	0	ENST00000296487.4:c.*221C>T			ENST00000296487				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46840.1	.	MUTECT|MUSE|VARSCANS	.	GAGTTCTCCTA	NONE	.	.	.	.	.	ENSP00000387046	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409502	Transcript	.	.	ENSG00000164088	26506	.	.	MODIFIER	8/8	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPM1M_HUMAN	PPM1M	HGNC	.	.	UPI000006FA2C	SNV	PPM1M,3_prime_UTR_variant,,ENST00000296487,;PPM1M,intron_variant,,ENST00000457351,;PPM1M,intron_variant,,ENST00000323588,;PPM1M,intron_variant,,ENST00000409502,;PPM1M,intron_variant,,ENST00000443681,;WDR82,downstream_gene_variant,,ENST00000296490,;PPM1M,downstream_gene_variant,,ENST00000457454,;PPM1M,intron_variant,,ENST00000482724,;PPM1M,intron_variant,,ENST00000467471,;PPM1M,intron_variant,,ENST00000489606,;PPM1M,downstream_gene_variant,,ENST00000472955,;	.	66	83	SUCCESS
C5orf24	134553	.	GRCh37	5	134192573	134192574	+	3_prime_UTR_variant	3'UTR	DEL	CA	CA	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	CA	CA	.	.	.	.	.	.	.	.	.	.	.	.	.	108	12	112	0	ENST00000338051.4:c.*1416_*1417delinsT			ENST00000338051	NM_152409.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4179.1	.	INDELOCATOR*|PINDEL|VARSCANS*	.	GGAATCCATCTAT	NONE	.	.	.	.	.	ENSP00000378427	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394976	Transcript	.	.	ENSG00000181904	26746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CE024_HUMAN	C5orf24	HGNC	.	.	UPI000013FCBD	substitution	C5orf24,3_prime_UTR_variant,,ENST00000394976,;C5orf24,3_prime_UTR_variant,,ENST00000338051,;C5orf24,intron_variant,,ENST00000504727,;C5orf24,intron_variant,,ENST00000507390,;C5orf24,downstream_gene_variant,,ENST00000508791,;C5orf24,downstream_gene_variant,,ENST00000435259,;DDX46,downstream_gene_variant,,ENST00000507053,;	2211-2212	112	120	SUCCESS
PFDN6	10471	.	GRCh37	6	33263466	33263466	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs201427428	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	151	11	141	0				ENST00000374606	NM_001185181.2	280		0	.	C:0	.	C:0	.	A	H/L	protein_coding	YES	CCDS4774.1	839	MUTECT|MUSE	.	GAGAATGTCCT	NONE	byFrequency|byCluster|by1000G	.	PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF159,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591	C:0.005	.	ENSP00000420211	C:0	7/18	.	.	.	.	.	.	.	.	rs201427428	7/18	PASS	ENST00000497454	Transcript	.	C:0.0010	ENSG00000237441	9769	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	probably_damaging(0.928)	C:0	deleterious(0.04)	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,missense_variant,p.His198Leu,ENST00000444031,;RGL2,missense_variant,p.His280Leu,ENST00000497454,;PFDN6,intron_variant,,ENST00000463584,;RGL2,downstream_gene_variant,,ENST00000425946,;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374607,;PFDN6,downstream_gene_variant,,ENST00000374610,;TAPBP,downstream_gene_variant,,ENST00000434618,;PFDN6,downstream_gene_variant,,ENST00000374606,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;RGL2,upstream_gene_variant,,ENST00000471319,;RGL2,downstream_gene_variant,,ENST00000485077,;RGL2,non_coding_transcript_exon_variant,,ENST00000478610,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;RGL2,downstream_gene_variant,,ENST00000494550,;PFDN6,downstream_gene_variant,,ENST00000491382,;RGL2,upstream_gene_variant,,ENST00000476616,;	1335	141	162	SUCCESS
ASB10	136371	.	GRCh37	7	150884731	150884731	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	75	0				ENST00000420175				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47750.2	.	MUTECT|MUSE	.	CCTCCAGATCC	NONE	.	489	.	.	.	ENSP00000391137	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Trp27Arg,ENST00000377867,;ASB10,upstream_gene_variant,,ENST00000275838,;ASB10,upstream_gene_variant,,ENST00000434669,;ASB10,upstream_gene_variant,,ENST00000420175,;ASB10,upstream_gene_variant,,ENST00000422024,;IQCA1P1,downstream_gene_variant,,ENST00000602518,;ASB10,missense_variant,p.Trp27Arg,ENST00000415615,;IQCA1P1,downstream_gene_variant,,ENST00000453127,;	.	75	67	SUCCESS
ISCA1	81689	.	GRCh37	9	88880922	88880922	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A459-01	TCGA-ED-A459-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	222	26	383	0	ENST00000375991.4:c.*36A>T			ENST00000375991	NM_030940.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35056.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGAGCTTTCCT	NONE	.	.	.	.	.	ENSP00000365159	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000375991	Transcript	.	.	ENSG00000135070	28660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ISCA1_HUMAN	ISCA1	HGNC	Q5TBE2_HUMAN	.	UPI000007259F	SNV	ISCA1,3_prime_UTR_variant,,ENST00000375991,;ISCA1,3_prime_UTR_variant,,ENST00000311534,;ISCA1,3_prime_UTR_variant,,ENST00000452279,;ISCA1,downstream_gene_variant,,ENST00000326094,;	497	383	249	SUCCESS
MTNR1B	4544	.	GRCh37	11	92715559	92715559	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1234240272	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	59	0	ENST00000257068.2:c.*81G>A			ENST00000257068	NM_005959.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8290.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGCCTGC	NONE	.	.	.	.	.	ENSP00000257068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000257068	Transcript	.	.	ENSG00000134640	7464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTR1B_HUMAN	MTNR1B	HGNC	Q8TEV7_HUMAN	.	UPI0000050408	SNV	MTNR1B,3_prime_UTR_variant,,ENST00000257068,;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,downstream_gene_variant,,ENST00000532482,;	1176	59	47	SUCCESS
MTNR1B	4544	.	GRCh37	11	92715560	92715560	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	8	59	0	ENST00000257068.2:c.*82C>A			ENST00000257068	NM_005959.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8290.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGCCTGCT	NONE	.	.	.	.	.	ENSP00000257068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000257068	Transcript	.	.	ENSG00000134640	7464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MTR1B_HUMAN	MTNR1B	HGNC	Q8TEV7_HUMAN	.	UPI0000050408	SNV	MTNR1B,3_prime_UTR_variant,,ENST00000257068,;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,downstream_gene_variant,,ENST00000532482,;	1177	60	47	SUCCESS
GREM1	26585	.	GRCh37	15	33024286	33024286	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	8	103	0	ENST00000300177.4:c.*840G>C			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10029.1	.	MUTECT|MUSE	.	CCGTTGCAATC	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	1584	103	103	SUCCESS
GREM1	26585	.	GRCh37	15	33024309	33024309	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	13	106	0	ENST00000300177.4:c.*863A>G			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10029.1	.	RADIA|MUTECT|MUSE	.	ACACCAAACTG	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	1607	106	103	SUCCESS
C17orf98	388381	.	GRCh37	17	36991404	36991404	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	17	119	0	ENST00000398575.4:c.*38C>A			ENST00000398575	NM_001080465.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42310.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTAGAAATT	NONE	.	.	.	.	.	ENSP00000381580	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000398575	Transcript	.	.	ENSG00000214556	34492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CQ098_HUMAN	C17orf98	HGNC	.	.	UPI00001D79E1	SNV	C17orf98,3_prime_UTR_variant,,ENST00000398575,;	569	119	110	SUCCESS
C19orf33	64073	.	GRCh37	19	38795638	38795638	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	138	29	198	0	ENST00000301246.5:c.*34T>C			ENST00000301246	NM_033520.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12511.1	.	MUTECT|MUSE|VARSCANS	.	TCCTCTCTGCC	NONE	.	.	.	.	.	ENSP00000301246	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000301246	Transcript	.	.	ENSG00000167644	16668	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IMUP_HUMAN	C19orf33	HGNC	.	.	UPI000006DC1A	SNV	C19orf33,3_prime_UTR_variant,,ENST00000588605,;C19orf33,3_prime_UTR_variant,,ENST00000301246,;YIF1B,downstream_gene_variant,,ENST00000592246,;YIF1B,downstream_gene_variant,,ENST00000337679,;YIF1B,downstream_gene_variant,,ENST00000592694,;YIF1B,downstream_gene_variant,,ENST00000329420,;YIF1B,downstream_gene_variant,,ENST00000339413,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000591784,;YIF1B,downstream_gene_variant,,ENST00000587039,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000392124,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000587361,;C19orf33,non_coding_transcript_exon_variant,,ENST00000591852,;C19orf33,non_coding_transcript_exon_variant,,ENST00000589986,;YIF1B,downstream_gene_variant,,ENST00000589151,;YIF1B,downstream_gene_variant,,ENST00000586319,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;	456	198	167	SUCCESS
PTGER3	5733	.	GRCh37	1	71418567	71418567	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	44	0	ENST00000356595.4:c.*23G>T			ENST00000356595	NM_198718.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS655.1	.	MUTECT|MUSE	.	CAGCACTCCTG	NONE	.	.	.	.	.	ENSP00000349003	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,3_prime_UTR_variant,,ENST00000356595,;PTGER3,3_prime_UTR_variant,,ENST00000414819,;PTGER3,intron_variant,,ENST00000370932,;PTGER3,intron_variant,,ENST00000351052,;PTGER3,intron_variant,,ENST00000354608,;PTGER3,intron_variant,,ENST00000460330,;PTGER3,intron_variant,,ENST00000370931,;RP3-333A15.1,downstream_gene_variant,,ENST00000426775,;PTGER3,intron_variant,,ENST00000361210,;PTGER3,intron_variant,,ENST00000479353,;PTGER3,intron_variant,,ENST00000497146,;	1491	44	60	SUCCESS
LPAR3	23566	.	GRCh37	1	85279510	85279510	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	30	0	ENST00000370611.3:c.*19C>T			ENST00000370611	NM_012152.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS700.1	.	MUTECT|MUSE|VARSCANS	.	GGTGGGCCGAG	NONE	.	.	.	.	.	ENSP00000395389	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000440886	Transcript	.	.	ENSG00000171517	14298	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LPAR3_HUMAN	LPAR3	HGNC	.	.	UPI000003CAC0	SNV	LPAR3,3_prime_UTR_variant,,ENST00000440886,;LPAR3,3_prime_UTR_variant,,ENST00000370611,;LPAR3,downstream_gene_variant,,ENST00000491034,;	1120	30	31	SUCCESS
COL5A2	1290	.	GRCh37	2	189898782	189898782	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs755515950	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	82	11	95	0	ENST00000374866.3:c.*14A>G			ENST00000374866	NM_000393.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33350.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGATGTGTCTT	NONE	.	.	.	.	.	ENSP00000364000	.	54/54	.	.	.	.	.	.	.	.	rs755515950	54/54	PASS	ENST00000374866	Transcript	.	.	ENSG00000204262	2210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO5A2_HUMAN	COL5A2	HGNC	D3DPH5_HUMAN	.	UPI00006C511C	SNV	COL5A2,3_prime_UTR_variant,,ENST00000374866,;	4789	95	93	SUCCESS
MGAT4A	11320	.	GRCh37	2	99237842	99237842	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs868275244	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	75	4	65	0	ENST00000264968.3:c.*4187G>C			ENST00000264968				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2036.1	.	MUTECT|MUSE	.	GGCCTCTCTCA	NONE	.	.	.	.	.	ENSP00000264968	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000264968	Transcript	.	.	ENSG00000071073	7047	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MGT4A_HUMAN	MGAT4A	HGNC	.	.	UPI000003F051	SNV	MGAT4A,3_prime_UTR_variant,,ENST00000414521,;MGAT4A,3_prime_UTR_variant,,ENST00000393487,;MGAT4A,3_prime_UTR_variant,,ENST00000264968,;UNC50,downstream_gene_variant,,ENST00000423713,;UNC50,downstream_gene_variant,,ENST00000409975,;UNC50,downstream_gene_variant,,ENST00000357765,;UNC50,downstream_gene_variant,,ENST00000393493,;MGAT4A,downstream_gene_variant,,ENST00000409391,;UNC50,downstream_gene_variant,,ENST00000409347,;UNC50,downstream_gene_variant,,ENST00000466492,;	6159	65	79	SUCCESS
ITIH4	3700	.	GRCh37	3	52847391	52847392	+	3_prime_UTR_variant	3'UTR	DEL	GG	GG	-	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	116	26	153	0	ENST00000266041.4:c.*45_*46del			ENST00000266041	NM_002218.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS2865.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GTTGCAGGGGGAA	NONE	.	.	.	.	.	ENSP00000266041	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000266041	Transcript	.	.	ENSG00000055955	6169	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITIH4_HUMAN	ITIH4	HGNC	.	.	UPI000013D6C3	deletion	ITIH4,3_prime_UTR_variant,,ENST00000346281,;ITIH4,3_prime_UTR_variant,,ENST00000266041,;ITIH4,3_prime_UTR_variant,,ENST00000441637,;ITIH4,3_prime_UTR_variant,,ENST00000485816,;ITIH4,3_prime_UTR_variant,,ENST00000406595,;ITIH3,downstream_gene_variant,,ENST00000416872,;ITIH3,downstream_gene_variant,,ENST00000449956,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000464000,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH3,downstream_gene_variant,,ENST00000493136,;ITIH4,downstream_gene_variant,,ENST00000461966,;ITIH4,downstream_gene_variant,,ENST00000481977,;	2935-2936	153	142	SUCCESS
BTN3A2	11118	.	GRCh37	6	26376781	26376781	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	50	0	ENST00000356386.2:c.*59C>A			ENST00000356386	NM_007047.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4605.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACACCTCCT	NONE	.	.	.	.	.	ENSP00000348751	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000356386	Transcript	.	.	ENSG00000186470	1139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A2_HUMAN	BTN3A2	HGNC	E9PRX1_HUMAN,E9PRR1_HUMAN	.	UPI000006E484	SNV	BTN3A2,3_prime_UTR_variant,,ENST00000356386,;BTN3A2,downstream_gene_variant,,ENST00000396934,;BTN3A2,downstream_gene_variant,,ENST00000508906,;BTN3A2,downstream_gene_variant,,ENST00000527639,;BTN3A2,downstream_gene_variant,,ENST00000527417,;BTN3A2,downstream_gene_variant,,ENST00000377708,;BTN3A2,downstream_gene_variant,,ENST00000527422,;BTN3A2,downstream_gene_variant,,ENST00000396948,;BTN3A2,downstream_gene_variant,,ENST00000524682,;BTN3A2,downstream_gene_variant,,ENST00000532627,;BTN3A2,downstream_gene_variant,,ENST00000532994,;BTN3A2,downstream_gene_variant,,ENST00000604202,;BTN3A2,downstream_gene_variant,,ENST00000532294,;BTN3A2,downstream_gene_variant,,ENST00000531055,;	1252	50	27	SUCCESS
TRIM35	23087	.	GRCh37	8	27144950	27144950	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1263250419	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	35	0	ENST00000305364.4:c.*117C>T			ENST00000305364	NM_171982.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6056.2	.	MUTECT|MUSE	.	GACAGGAGGAA	NONE	.	.	.	.	.	ENSP00000301924	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000305364	Transcript	.	.	ENSG00000104228	16285	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI35_HUMAN	TRIM35	HGNC	.	.	UPI00001649FB	SNV	TRIM35,3_prime_UTR_variant,,ENST00000305364,;TRIM35,intron_variant,,ENST00000521283,;TRIM35,downstream_gene_variant,,ENST00000521253,;	1683	35	30	SUCCESS
LMX1B	4010	.	GRCh37	9	129458735	129458735	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	73	0	ENST00000373474.4:c.*5C>T			ENST00000373474				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55343.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCCAGCCA	NONE	.	.	.	.	.	ENSP00000347684	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000355497	Transcript	.	.	ENSG00000136944	6654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LMX1B_HUMAN	LMX1B	HGNC	Q9UE66_HUMAN,B7ZLH2_HUMAN	.	UPI0001CE94D0	SNV	LMX1B,3_prime_UTR_variant,,ENST00000425646,;LMX1B,3_prime_UTR_variant,,ENST00000373474,;LMX1B,3_prime_UTR_variant,,ENST00000561065,;LMX1B,3_prime_UTR_variant,,ENST00000355497,;LMX1B,downstream_gene_variant,,ENST00000526117,;RP11-489N22.3,upstream_gene_variant,,ENST00000602859,;	1233	73	63	SUCCESS
TRAPPC2	6399	.	GRCh37	X	13732414	13732414	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	15	0	ENST00000359680.5:c.*112T>G			ENST00000359680	NM_014563.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48083.2	.	RADIA|MUTECT|MUSE	.	AGATAAGCTGA	NONE	.	63	.	.	.	ENSP00000392495	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000458511	Transcript	.	.	ENSG00000196459	23068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TPC2A_HUMAN	TRAPPC2	HGNC	Q6IBE5_HUMAN,E5RFG0_HUMAN	.	UPI0001CA7E6C	SNV	TRAPPC2,3_prime_UTR_variant,,ENST00000380579,;TRAPPC2,3_prime_UTR_variant,,ENST00000453655,;TRAPPC2,3_prime_UTR_variant,,ENST00000358231,;TRAPPC2,3_prime_UTR_variant,,ENST00000359680,;TRAPPC2,downstream_gene_variant,,ENST00000518847,;TRAPPC2,downstream_gene_variant,,ENST00000519885,;RAB9A,downstream_gene_variant,,ENST00000464506,;TRAPPC2,downstream_gene_variant,,ENST00000458511,;RAB9A,downstream_gene_variant,,ENST00000243325,;TRAPPC2,downstream_gene_variant,,ENST00000380578,;TRAPPC2,downstream_gene_variant,,ENST00000517553,;TRAPPC2,downstream_gene_variant,,ENST00000519382,;	.	15	10	SUCCESS
EIF1AX	1964	.	GRCh37	X	20146386	20146386	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A4XI-01	TCGA-ED-A4XI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	133	16	193	0	ENST00000379607.5:c.*38A>T			ENST00000379607	NM_001412.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14196.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GACAATCTTCA	NONE	.	.	.	.	.	ENSP00000368927	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000379607	Transcript	.	.	ENSG00000173674	3250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IF1AX_HUMAN	EIF1AX	HGNC	.	.	UPI00000041DF	SNV	EIF1AX,3_prime_UTR_variant,,ENST00000379607,;EIF1AX,3_prime_UTR_variant,,ENST00000379593,;	677	193	150	SUCCESS
C1orf68	100129271	.	GRCh37	1	152692878	152692878	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A5KG-01	TCGA-ED-A5KG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	4	94	0	ENST00000368775.2:c.*128T>C			ENST00000368775	NM_001024679.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44226.1	.	MUTECT|MUSE	.	TTGCTTCTCTA	NONE	.	.	.	.	.	ENSP00000357764	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000368775	Transcript	.	.	ENSG00000198854	29468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	XP32_HUMAN	C1orf68	HGNC	.	.	UPI00001C1D9F	SNV	C1orf68,3_prime_UTR_variant,,ENST00000368775,;	881	94	105	SUCCESS
RHOT1	55288	.	GRCh37	17	30469471	30469485	+	5_prime_UTR_variant	5'UTR	DEL	CCGCCGCCGCCGCCG	CCGCCGCCGCCGCCG	-	rs560388277	.	TCGA-ED-A627-01	TCGA-ED-A627-10	CCGCCGCCGCCGCCG	CCGCCGCCGCCGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	13	0				ENST00000333942	NM_018307.3	85		0	.	-:0.4781	.	-:0.3199	.	-	RRRRR/-	protein_coding	YES	.	253-267	INDELOCATOR|VARSCANI	.	TCGTCCCCGCCGCCGCCGCCGCCGCC	NONE	byFrequency|byCluster|by1000G	.	Low_complexity_(Seg):seg	-:0.2708	.	ENSP00000381813	-:0.2903	2/2	.	.	.	.	.	.	.	.	rs560388277	2/2	PASS	ENST00000398832	Transcript	.	-:0.3644	ENSG00000214708	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	.	-:0.4151	.	.	.	AC090616.2	Clone_based_vega_gene	A8MZ04_HUMAN	.	UPI0000E59F09	deletion	AC090616.2,inframe_deletion,p.Arg85_Arg89del,ENST00000398832,;RHOT1,5_prime_UTR_variant,,ENST00000358365,;RHOT1,5_prime_UTR_variant,,ENST00000333942,;RHOT1,upstream_gene_variant,,ENST00000354266,;RHOT1,upstream_gene_variant,,ENST00000583994,;RHOT1,upstream_gene_variant,,ENST00000581094,;RHOT1,upstream_gene_variant,,ENST00000394692,;RHOT1,upstream_gene_variant,,ENST00000545287,;RHOT1,upstream_gene_variant,,ENST00000580976,;RHOT1,upstream_gene_variant,,ENST00000581031,;RHOT1,upstream_gene_variant,,ENST00000578205,;	359-373	13	47	SUCCESS
MUC19	283463	.	GRCh37	12	40921869	40921869	+	intron_variant	Intron	SNP	G	G	A	novel	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	15	0	ENST00000454784.4:c.*5783-14495G>A			ENST00000454784				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE	.	TCTGGGGTATC	NONE	.	.	.	.	.	ENSP00000476404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	49/83	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,synonymous_variant,p.%3D,ENST00000424466,;MUC19,intron_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000474954,;MUC19,downstream_gene_variant,,ENST00000398702,;MUC19,upstream_gene_variant,,ENST00000423284,;	.	15	12	SUCCESS
ATP6V1G2	534	.	GRCh37	6	31515977	31515977	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs755428062	.	TCGA-ED-A66X-01	TCGA-ED-A66X-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	6	50	0				ENST00000303892	NM_138282.2	32		0	.	.	.	.	.	A	R/H	protein_coding	YES	CCDS4700.1	95	RADIA|MUTECT|MUSE|VARSCANS	.	CCAACGCCGAG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15263:SF1,hmmpanther:PTHR15263	.	.	ENSP00000365318	.	2/4	.	.	.	.	.	.	.	.	rs755428062	2/4	PASS	ENST00000376148	Transcript	.	.	ENSG00000204498	7800	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.024)	.	deleterious(0.03)	.	IKBL1_HUMAN	NFKBIL1	HGNC	Q5STV6_HUMAN	.	UPI0000071DDF	SNV	NFKBIL1,missense_variant,p.Arg32His,ENST00000376148,;NFKBIL1,missense_variant,p.Arg9His,ENST00000376146,;NFKBIL1,missense_variant,p.Arg32His,ENST00000376145,;ATP6V1G2,intron_variant,,ENST00000415099,;ATP6V1G2,upstream_gene_variant,,ENST00000483251,;ATP6V1G2,upstream_gene_variant,,ENST00000303892,;ATP6V1G2,upstream_gene_variant,,ENST00000376151,;ATP6V1G2,upstream_gene_variant,,ENST00000483170,;ATP6V1G2-DDX39B,upstream_gene_variant,,ENST00000475917,;NFKBIL1,missense_variant,p.Arg32His,ENST00000496233,;NFKBIL1,non_coding_transcript_exon_variant,,ENST00000473655,;ATP6V1G2-DDX39B,upstream_gene_variant,,ENST00000480131,;ATP6V1G2,upstream_gene_variant,,ENST00000481998,;ATP6V1G2-DDX39B,upstream_gene_variant,,ENST00000376185,;	209	50	52	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103349989	103349989	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1414242561	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	35	75	0	ENST00000375735.2:c.*8T>C			ENST00000375735	NM_001080463.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAATGACAA	NONE	.	8	.	.	.	ENSP00000381167	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,3_prime_UTR_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000375735,;DYNC2H1,3_prime_UTR_variant,,ENST00000533197,;DYNC2H1,downstream_gene_variant,,ENST00000398093,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000527252,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	.	75	74	SUCCESS
OR10W1	81341	.	GRCh37	11	58034403	58034403	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	30	68	0	ENST00000395079.2:c.*10G>A			ENST00000395079	NM_207374.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7968.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCCCCTCGTC	NONE	.	.	.	.	.	ENSP00000378516	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000395079	Transcript	.	.	ENSG00000172772	15139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O10W1_HUMAN	OR10W1	HGNC	.	.	UPI000004B229	SNV	OR10W1,3_prime_UTR_variant,,ENST00000395079,;	1330	68	64	SUCCESS
S100A8	6279	.	GRCh37	1	153362537	153362537	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	25	55	0	ENST00000368732.1:c.*42C>T			ENST00000368732				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1038.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCAGGTACA	NONE	.	.	.	.	.	ENSP00000357722	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368733	Transcript	.	.	ENSG00000143546	10498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S10A8_HUMAN	S100A8	HGNC	.	.	UPI000002C6C3	SNV	S100A8,3_prime_UTR_variant,,ENST00000368733,;S100A8,3_prime_UTR_variant,,ENST00000368732,;S100A8,downstream_gene_variant,,ENST00000477801,;	494	55	87	SUCCESS
MPC2	25874	.	GRCh37	1	167887394	167887394	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	3	29	0	ENST00000271373.4:c.*167C>A			ENST00000271373	NM_001143674.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1266.1	.	MUTECT|MUSE	.	AGAGAGACTGT	NONE	.	.	.	.	.	ENSP00000356820	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000367846	Transcript	.	.	ENSG00000143158	24515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MPC2_HUMAN	MPC2	HGNC	Q5R3B4_HUMAN	.	UPI0000044E0B	SNV	MPC2,3_prime_UTR_variant,,ENST00000271373,;MPC2,3_prime_UTR_variant,,ENST00000367846,;MPC2,downstream_gene_variant,,ENST00000458574,;ADCY10,upstream_gene_variant,,ENST00000545172,;ADCY10,upstream_gene_variant,,ENST00000476818,;ADCY10,upstream_gene_variant,,ENST00000367851,;ADCY10,upstream_gene_variant,,ENST00000367848,;	750	29	43	SUCCESS
ADPRHL2	0	.	GRCh37	1	36559043	36559043	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	36	0	ENST00000373178.4:c.*56A>G			ENST00000373178	NM_017825.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS402.1	.	MUTECT|MUSE	.	GCTCCAATCAG	NONE	.	.	.	.	.	ENSP00000362273	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373178	Transcript	.	.	ENSG00000116863	21304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ARHL2_HUMAN	ADPRHL2	HGNC	B7ZAN4_HUMAN,B4DHV5_HUMAN	.	UPI0000039EBB	SNV	ADPRHL2,3_prime_UTR_variant,,ENST00000373178,;COL8A2,downstream_gene_variant,,ENST00000303143,;COL8A2,downstream_gene_variant,,ENST00000481785,;COL8A2,downstream_gene_variant,,ENST00000397799,;	1178	36	37	SUCCESS
NNAT	4826	.	GRCh37	20	36151185	36151185	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	11	24	0	ENST00000062104.2:c.*24G>A			ENST00000062104	NM_005386.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13296.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGCGGCCGT	NONE	.	.	.	.	.	ENSP00000062104	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000062104	Transcript	.	.	ENSG00000053438	7860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NNAT_HUMAN	NNAT	HGNC	.	.	UPI000004EC8C	SNV	NNAT,3_prime_UTR_variant,,ENST00000062104,;NNAT,3_prime_UTR_variant,,ENST00000346199,;BLCAP,intron_variant,,ENST00000397137,;BLCAP,intron_variant,,ENST00000445723,;BLCAP,intron_variant,,ENST00000373537,;BLCAP,intron_variant,,ENST00000397131,;BLCAP,intron_variant,,ENST00000414542,;BLCAP,intron_variant,,ENST00000414080,;BLCAP,intron_variant,,ENST00000397135,;BLCAP,upstream_gene_variant,,ENST00000432507,;BLCAP,upstream_gene_variant,,ENST00000456058,;BLCAP,upstream_gene_variant,,ENST00000397134,;BLCAP,intron_variant,,ENST00000467603,;	387	24	21	SUCCESS
LINC01098	285501	.	GRCh37	4	178911809	178911809	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	24	70	0	ENST00000507870.1:c.*147A>G			ENST00000507870				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AAATAATCTCC	NONE	.	.	.	.	.	ENSP00000421352	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000507870	Transcript	.	.	ENSG00000231171	27731	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LINC01098	HGNC	G5E9X9_HUMAN	.	UPI0000160C43	SNV	LINC01098,3_prime_UTR_variant,,ENST00000507870,;	939	70	71	SUCCESS
MBLAC2	153364	.	GRCh37	5	89756928	89756928	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	33	60	0	ENST00000316610.6:c.*56A>G			ENST00000316610	NM_203406.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4067.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATAGCAC	NONE	.	.	.	.	.	ENSP00000314776	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000316610	Transcript	.	.	ENSG00000176055	33711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MBLC2_HUMAN	MBLAC2	HGNC	.	.	UPI00001975AC	SNV	MBLAC2,3_prime_UTR_variant,,ENST00000316610,;	1372	60	68	SUCCESS
MLXIPL	51085	.	GRCh37	7	73008143	73008143	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	41	0	ENST00000313375.3:c.*52G>A			ENST00000313375	NM_032953.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5553.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCCAGGGA	NONE	.	.	.	.	.	ENSP00000320886	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,3_prime_UTR_variant,,ENST00000313375,;MLXIPL,3_prime_UTR_variant,,ENST00000434326,;MLXIPL,3_prime_UTR_variant,,ENST00000395189,;MLXIPL,3_prime_UTR_variant,,ENST00000429400,;MLXIPL,3_prime_UTR_variant,,ENST00000354613,;MLXIPL,3_prime_UTR_variant,,ENST00000414749,;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,3_prime_UTR_variant,,ENST00000345114,;MLXIPL,downstream_gene_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000476404,;	2659	41	29	SUCCESS
NPM2	10361	.	GRCh37	8	21894299	21894299	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	22	0	ENST00000289820.6:c.*106G>T			ENST00000289820	NM_182795.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6018.1	.	MUTECT|MUSE	.	CAACAGGGGTG	NONE	.	.	.	.	.	ENSP00000381032	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000397940	Transcript	.	.	ENSG00000158806	7930	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NPM2_HUMAN	NPM2	HGNC	E5RGN1_HUMAN,E5RFQ8_HUMAN	.	UPI000019A1BE	SNV	NPM2,3_prime_UTR_variant,,ENST00000289820,;NPM2,3_prime_UTR_variant,,ENST00000381530,;NPM2,3_prime_UTR_variant,,ENST00000521157,;NPM2,3_prime_UTR_variant,,ENST00000518119,;NPM2,3_prime_UTR_variant,,ENST00000397940,;NPM2,downstream_gene_variant,,ENST00000520125,;NPM2,downstream_gene_variant,,ENST00000522813,;snoU13,downstream_gene_variant,,ENST00000459495,;NPM2,downstream_gene_variant,,ENST00000520180,;NPM2,non_coding_transcript_exon_variant,,ENST00000519373,;NPM2,non_coding_transcript_exon_variant,,ENST00000520456,;NPM2,downstream_gene_variant,,ENST00000524322,;NPM2,downstream_gene_variant,,ENST00000522953,;	1766	22	19	SUCCESS
TPM2	7169	.	GRCh37	9	35682076	35682076	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	10	49	0				ENST00000360958	NM_003289.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6586.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCCCTCAC	NONE	.	.	.	.	.	ENSP00000367542	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000378292	Transcript	.	.	ENSG00000198467	12011	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPM2_HUMAN	TPM2	HGNC	.	.	UPI000002B5B5	SNV	TPM2,3_prime_UTR_variant,,ENST00000378300,;TPM2,3_prime_UTR_variant,,ENST00000378292,;TPM2,3_prime_UTR_variant,,ENST00000329305,;TPM2,downstream_gene_variant,,ENST00000360958,;CA9,downstream_gene_variant,,ENST00000378357,;TPM2,downstream_gene_variant,,ENST00000607559,;CA9,downstream_gene_variant,,ENST00000493245,;CA9,downstream_gene_variant,,ENST00000485665,;TPM2,downstream_gene_variant,,ENST00000486018,;TPM2,downstream_gene_variant,,ENST00000604975,;TPM2,downstream_gene_variant,,ENST00000471212,;	2060	49	39	SUCCESS
DMRT1	1761	.	GRCh37	9	968192	968192	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	14	22	0	ENST00000382276.3:c.*53T>G			ENST00000382276	NM_021951.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6442.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTTTCCAT	NONE	.	.	.	.	.	ENSP00000371711	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000382276	Transcript	.	.	ENSG00000137090	2934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DMRT1_HUMAN	DMRT1	HGNC	H3BN61_HUMAN	.	UPI00000008AC	SNV	DMRT1,3_prime_UTR_variant,,ENST00000382276,;DMRT1,3_prime_UTR_variant,,ENST00000569227,;	1324	22	27	SUCCESS
PABPC1L2A	340529	.	GRCh37	X	72297606	72297606	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A66Y-01	TCGA-ED-A66Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	74	95	0	ENST00000373519.1:c.*1017C>T			ENST00000373519	NM_001012977.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35334.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGATCAA	NONE	.	.	.	.	.	ENSP00000362618	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373519	Transcript	.	.	ENSG00000186288	27989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAP1M_HUMAN	PABPC1L2A	HGNC	.	.	UPI00001C207A	SNV	PABPC1L2A,3_prime_UTR_variant,,ENST00000373519,;PABPC1L2A,downstream_gene_variant,,ENST00000453389,;RP11-493K23.4,upstream_gene_variant,,ENST00000454388,;	1746	95	139	SUCCESS
PRSS23	11098	.	GRCh37	11	86521764	86521764	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs77350530	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	79	145	0	ENST00000280258.5:c.*1927C>G			ENST00000280258	NM_007173.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8278.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCACAAAGT	NONE	byCluster	.	.	.	.	ENSP00000280258	.	2/2	.	.	.	.	.	.	.	.	rs77350530	2/2	PASS	ENST00000280258	Transcript	.	.	ENSG00000150687	14370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS23_HUMAN	PRSS23	HGNC	E9PRR2_HUMAN,B7ZB43_HUMAN	.	UPI0000048EBC	SNV	PRSS23,3_prime_UTR_variant,,ENST00000280258,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,downstream_gene_variant,,ENST00000441050,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000532234,;	3504	145	235	SUCCESS
RNU6-721P	106481774	.	GRCh37	18	15316546	15316546	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	52	146	0				ENST00000410155				0	.	.	.	.	.	G	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGAACATA	NONE	.	4293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410155	Transcript	.	.	ENSG00000222087	47684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-721P	HGNC	.	.	.	SNV	RNU6-721P,downstream_gene_variant,,ENST00000410155,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000504516,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000455308,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000333851,;AP005901.1,intron_variant,,ENST00000508721,;	.	146	114	SUCCESS
PCDHB8	56128	.	GRCh37	5	140563725	140563725	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs1554282298	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	23	0				ENST00000239444	NM_019120.3	531		0	.	.	.	.	.	A	V/M	protein_coding	YES	CCDS4251.1	1591	RADIA|MUTECT|MUSE|VARSCANS	.	TCCGCGTGAGC	NONE	.	.	Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.971)	.	deleterious_low_confidence(0)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Val531Met,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	2746	23	31	SUCCESS
GML	2765	.	GRCh37	8	143928208	143928208	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	16	0	ENST00000220940.1:c.*102C>A			ENST00000220940	NM_002066.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6391.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCCTCTAGGT	NONE	.	.	.	.	.	ENSP00000220940	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000220940	Transcript	.	.	ENSG00000104499	4375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GML_HUMAN	GML	HGNC	.	.	UPI000012B8B1	SNV	GML,3_prime_UTR_variant,,ENST00000220940,;GML,intron_variant,,ENST00000522728,;	669	16	21	SUCCESS
ZNF596	169270	.	GRCh37	8	196464	196464	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1189671664	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	9	0	ENST00000308811.4:c.*102C>T			ENST00000308811	NM_173539.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5951.2	.	MUTECT|MUSE|VARSCANS	.	ATTTACCACTT	NONE	.	.	.	.	.	ENSP00000381613	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000398612	Transcript	.	.	ENSG00000172748	27268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN596_HUMAN	ZNF596	HGNC	E5RJH7_HUMAN,E5RIL8_HUMAN,E5RHT8_HUMAN	.	UPI0000160DBF	SNV	ZNF596,3_prime_UTR_variant,,ENST00000308811,;ZNF596,3_prime_UTR_variant,,ENST00000398612,;ZNF596,downstream_gene_variant,,ENST00000320552,;ZNF596,downstream_gene_variant,,ENST00000521145,;ZNF596,downstream_gene_variant,,ENST00000518320,;ZNF596,downstream_gene_variant,,ENST00000521270,;ZNF596,downstream_gene_variant,,ENST00000518414,;ZNF596,downstream_gene_variant,,ENST00000522866,;ZNF596,downstream_gene_variant,,ENST00000521238,;ZNF596,downstream_gene_variant,,ENST00000523333,;ZNF596,downstream_gene_variant,,ENST00000523162,;ZNF596,downstream_gene_variant,,ENST00000523418,;	2000	9	18	SUCCESS
IDS	3423	.	GRCh37	X	148564225	148564225	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7PX-01	TCGA-ED-A7PX-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	14	31	0	ENST00000340855.6:c.*52G>A			ENST00000340855	NM_001166550.1			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTCTCACC	NONE	.	.	.	.	.	ENSP00000477056	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000422081	Transcript	.	.	ENSG00000241489	5389	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	IDS	Uniprot_gn	B4DIX1_HUMAN,B3KWA1_HUMAN	.	UPI0000EE78A2	SNV	IDS,3_prime_UTR_variant,,ENST00000541269,;IDS,3_prime_UTR_variant,,ENST00000422081,;IDS,3_prime_UTR_variant,,ENST00000537071,;IDS,3_prime_UTR_variant,,ENST00000340855,;IDS,downstream_gene_variant,,ENST00000370441,;IDS,downstream_gene_variant,,ENST00000490775,;IDS,downstream_gene_variant,,ENST00000441880,;IDS,downstream_gene_variant,,ENST00000464251,;IDS,downstream_gene_variant,,ENST00000466323,;	2484	31	33	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100864003	100864003	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	34	57	0				ENST00000298815	NM_152432.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8309.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATAAAGAT	NONE	.	.	.	.	.	ENSP00000303999	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303130	Transcript	.	.	ENSG00000170647	24033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM133_HUMAN	TMEM133	HGNC	.	.	UPI0000070A3A	SNV	TMEM133,3_prime_UTR_variant,,ENST00000303130,;ARHGAP42,downstream_gene_variant,,ENST00000524892,;ARHGAP42,downstream_gene_variant,,ENST00000298815,;ARHGAP42,downstream_gene_variant,,ENST00000529535,;	1193	57	63	SUCCESS
TSPAN18	90139	.	GRCh37	11	44952351	44952351	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs529755499	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	21	0	ENST00000340160.3:c.*1622G>A			ENST00000340160	NM_130783.4			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS7910.1	.	MUTECT|MUSE	.	GCCACGGGCAG	NONE	by1000G	.	.	A:0	.	ENSP00000339820	A:0.001	9/9	.	.	.	.	.	.	.	.	rs529755499	9/9	PASS	ENST00000340160	Transcript	.	A:0.0002	ENSG00000157570	20660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	TSN18_HUMAN	TSPAN18	HGNC	E9PPB7_HUMAN	.	UPI000004A4F4	SNV	TSPAN18,3_prime_UTR_variant,,ENST00000340160,;TSPAN18,3_prime_UTR_variant,,ENST00000520358,;TSPAN18,intron_variant,,ENST00000518429,;TP53I11,downstream_gene_variant,,ENST00000528473,;TP53I11,downstream_gene_variant,,ENST00000528290,;TP53I11,downstream_gene_variant,,ENST00000533940,;TP53I11,downstream_gene_variant,,ENST00000395648,;TP53I11,downstream_gene_variant,,ENST00000525680,;TP53I11,downstream_gene_variant,,ENST00000308212,;TP53I11,downstream_gene_variant,,ENST00000531130,;TP53I11,downstream_gene_variant,,ENST00000533955,;TP53I11,intron_variant,,ENST00000354556,;TSPAN18,downstream_gene_variant,,ENST00000520245,;TP53I11,downstream_gene_variant,,ENST00000532253,;TSPAN18,downstream_gene_variant,,ENST00000521990,;TSPAN18,downstream_gene_variant,,ENST00000517621,;TP53I11,downstream_gene_variant,,ENST00000524774,;TSPAN18,downstream_gene_variant,,ENST00000520278,;	2608	21	20	SUCCESS
CCL11	6356	.	GRCh37	17	32614839	32614839	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs768719395	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	29	1	ENST00000305869.3:c.*130T>A			ENST00000305869	NM_002986.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11279.1	.	SOMATICSNIPER|VARSCANS	.	TATTTTTTTTT	NONE	.	.	.	.	.	ENSP00000302234	.	3/3	.	.	.	.	.	.	.	.	rs768719395	3/3	PASS	ENST00000305869	Transcript	.	.	ENSG00000172156	10610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCL11_HUMAN	CCL11	HGNC	Q6I9T4_HUMAN	.	UPI0000050AFD	SNV	CCL11,3_prime_UTR_variant,,ENST00000305869,;	565	30	25	SUCCESS
FAM129C	0	.	GRCh37	19	17634107	17634107	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	14	0				ENST00000335393	NM_173544.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12362.1	.	RADIA|MUSE	.	GGCACCCGGCT	NONE	.	3	.	.	.	ENSP00000335040	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000335393	Transcript	.	.	ENSG00000167483	24130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NIBL2_HUMAN	FAM129C	HGNC	M0R0E0_HUMAN,B4DNU3_HUMAN	.	UPI0000246FFF	SNV	FAM129C,upstream_gene_variant,,ENST00000335393,;FAM129C,upstream_gene_variant,,ENST00000332386,;PGLS,downstream_gene_variant,,ENST00000252603,;FAM129C,upstream_gene_variant,,ENST00000599124,;FAM129C,upstream_gene_variant,,ENST00000449408,;FAM129C,upstream_gene_variant,,ENST00000595684,;FAM129C,upstream_gene_variant,,ENST00000599164,;PGLS,downstream_gene_variant,,ENST00000595782,;FAM129C,upstream_gene_variant,,ENST00000300971,;FAM129C,upstream_gene_variant,,ENST00000601861,;FAM129C,upstream_gene_variant,,ENST00000600871,;FAM129C,upstream_gene_variant,,ENST00000352727,;CTD-3131K8.3,upstream_gene_variant,,ENST00000596192,;FAM129C,upstream_gene_variant,,ENST00000597887,;PGLS,downstream_gene_variant,,ENST00000594761,;FAM129C,upstream_gene_variant,,ENST00000600519,;PGLS,downstream_gene_variant,,ENST00000598811,;	.	14	13	SUCCESS
ZNF546	339327	.	GRCh37	19	40521843	40521843	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs186244423	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	19	0	ENST00000347077.4:c.*155G>T			ENST00000347077	NM_178544.3			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS12548.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTATAGCATCA	NONE	by1000G	.	.	T:0	.	ENSP00000339823	T:0	7/7	.	.	.	.	.	.	.	.	rs186244423	7/7	PASS	ENST00000347077	Transcript	.	T:0.0002	ENSG00000187187	28671	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	ZN546_HUMAN	ZNF546	HGNC	M0R292_HUMAN,M0QXR6_HUMAN	.	UPI00001984E3	SNV	ZNF546,3_prime_UTR_variant,,ENST00000600094,;ZNF546,3_prime_UTR_variant,,ENST00000347077,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000601138,;ZNF546,downstream_gene_variant,,ENST00000599504,;CTC-471F3.6,upstream_gene_variant,,ENST00000593658,;	2882	19	14	SUCCESS
GON4L	54856	.	GRCh37	1	155720228	155720228	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	97	13	58	0	ENST00000368331.1:c.*147T>C			ENST00000368331	NM_001037533.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44242.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTCCATCCTC	NONE	.	.	.	.	.	ENSP00000396117	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000437809	Transcript	.	.	ENSG00000116580	25973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GON4L_HUMAN	GON4L	HGNC	Q9NXJ9_HUMAN	.	UPI0000603C24	SNV	GON4L,3_prime_UTR_variant,,ENST00000437809,;GON4L,3_prime_UTR_variant,,ENST00000368331,;GON4L,3_prime_UTR_variant,,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000538143,;MSTO1,downstream_gene_variant,,ENST00000452804,;GON4L,non_coding_transcript_exon_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;	6993	58	110	SUCCESS
PIM3	415116	.	GRCh37	22	50356872	50356872	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	13	0	ENST00000360612.4:c.*97C>G			ENST00000360612	NM_001001852.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33678.1	.	MUTECT|MUSE	.	TCCTCCTGCGG	NONE	.	.	.	.	.	ENSP00000353824	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000360612	Transcript	.	.	ENSG00000198355	19310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PIM3_HUMAN	PIM3	HGNC	.	.	UPI00001582C4	SNV	PIM3,3_prime_UTR_variant,,ENST00000360612,;PIM3,downstream_gene_variant,,ENST00000467480,;	1513	13	13	SUCCESS
N4BP2	55728	.	GRCh37	4	40155896	40155896	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A7PY-01	TCGA-ED-A7PY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	26	0	ENST00000261435.6:c.*39G>A			ENST00000261435	NM_018177.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3457.1	.	MUTECT|MUSE	.	TGTAGGTTAAA	NONE	.	.	.	.	.	ENSP00000261435	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000261435	Transcript	.	.	ENSG00000078177	29851	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	N4BP2_HUMAN	N4BP2	HGNC	D6R9J2_HUMAN	.	UPI00001A962C	SNV	N4BP2,3_prime_UTR_variant,,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000261435,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	5768	26	32	SUCCESS
ZNF248	57209	.	GRCh37	10	38120244	38120244	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	110	74	166	1				ENST00000357328	NM_001267597.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7194.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGTGAATA	NONE	.	.	.	.	.	ENSP00000379208	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395867	Transcript	.	.	ENSG00000198105	13041	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN248_HUMAN	ZNF248	HGNC	Q9UMP4_HUMAN,B4DF82_HUMAN,B1AL42_HUMAN,B1AL40_HUMAN,A2RUI7_HUMAN	.	UPI000006CF12	SNV	ZNF248,splice_region_variant,,ENST00000374648,;ZNF248,3_prime_UTR_variant,,ENST00000395867,;ZNF248,downstream_gene_variant,,ENST00000395873,;ZNF248,downstream_gene_variant,,ENST00000357328,;AL135791.1,upstream_gene_variant,,ENST00000583461,;ZNF248,splice_region_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,;	2590	167	184	SUCCESS
OR52L1	338751	.	GRCh37	11	6007165	6007165	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	8	60	0	ENST00000332249.4:c.*6A>G			ENST00000332249	NM_001005173.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44529.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATGTTCAGA	NONE	.	.	.	.	.	ENSP00000330338	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332249	Transcript	.	.	ENSG00000183313	14785	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O52L1_HUMAN	OR52L1	HGNC	.	.	UPI00001B006D	SNV	OR52L1,3_prime_UTR_variant,,ENST00000332249,;	1051	60	42	SUCCESS
H1FNT	0	.	GRCh37	12	48723852	48723852	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs777722624	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	30	57	0	ENST00000335017.1:c.*10G>T			ENST00000335017	NM_181788.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8762.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGGCTAAA	NONE	byFrequency	.	.	.	.	ENSP00000334805	.	1/1	.	.	.	.	.	.	.	.	rs777722624	1/1	PASS	ENST00000335017	Transcript	.	.	ENSG00000187166	24893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H1FNT_HUMAN	H1FNT	HGNC	.	.	UPI00001AA15C	SNV	H1FNT,3_prime_UTR_variant,,ENST00000335017,;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	1090	57	75	SUCCESS
DIO3	1735	.	GRCh37	14	102029035	102029035	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	37	91	1	ENST00000510508.4:c.*287G>T			ENST00000510508				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41992.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGCCTCT	NONE	.	.	.	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,3_prime_UTR_variant,,ENST00000510508,;DIO3,3_prime_UTR_variant,,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	1348	92	62	SUCCESS
VCPKMT	79609	.	GRCh37	14	50576410	50576410	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	58	0	ENST00000395860.2:c.*7del			ENST00000395860	NM_024558.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9696.2	.	VARSCANI*|PINDEL	.	ATGATTAAAGGC	NONE	.	.	.	.	.	ENSP00000379201	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395860	Transcript	.	.	ENSG00000100483	20352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MT21D_HUMAN	VCPKMT	HGNC	.	.	UPI000004C2A8	deletion	VCPKMT,3_prime_UTR_variant,,ENST00000395860,;VCPKMT,3_prime_UTR_variant,,ENST00000395859,;VCPKMT,3_prime_UTR_variant,,ENST00000491402,;VCPKMT,non_coding_transcript_exon_variant,,ENST00000484763,;VCPKMT,non_coding_transcript_exon_variant,,ENST00000569518,;	702	58	35	SUCCESS
NPAP1	23742	.	GRCh37	15	24926660	24926660	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	30	57	0	ENST00000329468.2:c.*2175A>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTAGATGA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	6120	57	58	SUCCESS
ZNF592	9640	.	GRCh37	15	85345722	85345722	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	7	16	0	ENST00000299927.3:c.*98A>T			ENST00000299927				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32317.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GTGTGAGTGTG	NONE	.	.	.	.	.	ENSP00000299927	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000299927	Transcript	1	.	ENSG00000166716	28986	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN592_HUMAN	ZNF592	HGNC	.	.	UPI000013E5FC	SNV	ZNF592,3_prime_UTR_variant,,ENST00000299927,;ZNF592,3_prime_UTR_variant,,ENST00000560079,;ZNF592,downstream_gene_variant,,ENST00000559607,;	3924	16	35	SUCCESS
RLTPR	0	.	GRCh37	16	67691447	67691447	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	58	77	0	ENST00000334583.6:c.*26T>A			ENST00000334583	NM_001013838.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45513.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGATTATTT	NONE	.	.	.	.	.	ENSP00000334958	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000334583	Transcript	.	.	ENSG00000159753	27089	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR16C_HUMAN	RLTPR	HGNC	.	.	UPI00005194F2	SNV	RLTPR,3_prime_UTR_variant,,ENST00000334583,;ACD,3_prime_UTR_variant,,ENST00000219251,;ACD,3_prime_UTR_variant,,ENST00000393919,;ACD,3_prime_UTR_variant,,ENST00000602382,;PARD6A,upstream_gene_variant,,ENST00000458121,;PARD6A,upstream_gene_variant,,ENST00000602551,;PARD6A,upstream_gene_variant,,ENST00000219255,;ACD,downstream_gene_variant,,ENST00000602850,;ACD,downstream_gene_variant,,ENST00000602320,;RLTPR,downstream_gene_variant,,ENST00000545661,;RLTPR,3_prime_UTR_variant,,ENST00000602368,;ACD,non_coding_transcript_exon_variant,,ENST00000602656,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602705,;ACD,non_coding_transcript_exon_variant,,ENST00000602622,;PARD6A,upstream_gene_variant,,ENST00000602727,;ACD,downstream_gene_variant,,ENST00000602860,;ACD,downstream_gene_variant,,ENST00000602821,;RLTPR,downstream_gene_variant,,ENST00000602924,;ACD,downstream_gene_variant,,ENST00000602423,;ACD,downstream_gene_variant,,ENST00000602945,;ACD,downstream_gene_variant,,ENST00000602780,;ACD,downstream_gene_variant,,ENST00000602519,;RLTPR,downstream_gene_variant,,ENST00000602321,;RLTPR,downstream_gene_variant,,ENST00000602931,;	4662	77	80	SUCCESS
MSLN	10232	.	GRCh37	16	818834	818834	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	12	0	ENST00000382862.3:c.*101A>T			ENST00000382862	NM_013404.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32356.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCAGTAAA	NONE	.	.	.	.	.	ENSP00000372313	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000382862	Transcript	.	.	ENSG00000102854	7371	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSLN_HUMAN	MSLN	HGNC	H3BV92_HUMAN	.	UPI000004EC9C	SNV	MSLN,synonymous_variant,p.%3D,ENST00000561896,;MSLN,3_prime_UTR_variant,,ENST00000382862,;MSLN,3_prime_UTR_variant,,ENST00000566549,;MSLN,3_prime_UTR_variant,,ENST00000563941,;MSLN,3_prime_UTR_variant,,ENST00000545450,;MSLNL,downstream_gene_variant,,ENST00000442466,;MSLNL,downstream_gene_variant,,ENST00000543963,;MSLN,downstream_gene_variant,,ENST00000566269,;MSLN,downstream_gene_variant,,ENST00000569566,;MSLN,downstream_gene_variant,,ENST00000563651,;MSLNL,downstream_gene_variant,,ENST00000293892,;MIR662,upstream_gene_variant,,ENST00000384847,;	2089	12	17	SUCCESS
LYZL6	57151	.	GRCh37	17	34257110	34257110	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	28	97	0				ENST00000585556		82		0	.	.	.	.	.	A	R	protein_coding	YES	CCDS11301.1	246	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTTCCGGTC	NONE	.	.	PROSITE_profiles:PS50102,hmmpanther:PTHR31164:SF1,hmmpanther:PTHR31164,Gene3D:3.30.70.330,Pfam_domain:PF00076,Superfamily_domains:SSF54768,Superfamily_domains:SSF54928	.	.	ENSP00000293273	.	2/7	.	.	.	.	.	.	.	.	.	2/7	PASS	ENST00000293273	Transcript	.	.	ENSG00000187456	19950	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDM1_HUMAN	RDM1	HGNC	.	.	UPI0000044E0F	SNV	RDM1,synonymous_variant,p.%3D,ENST00000430160,;RDM1,synonymous_variant,p.%3D,ENST00000394529,;RDM1,synonymous_variant,p.%3D,ENST00000425909,;RDM1,synonymous_variant,p.%3D,ENST00000394528,;RDM1,synonymous_variant,p.%3D,ENST00000293273,;RDM1,synonymous_variant,p.%3D,ENST00000419453,;RDM1,synonymous_variant,p.%3D,ENST00000431884,;RDM1,synonymous_variant,p.%3D,ENST00000394527,;RDM1,synonymous_variant,p.%3D,ENST00000591402,;LYZL6,downstream_gene_variant,,ENST00000394523,;LYZL6,downstream_gene_variant,,ENST00000293274,;LYZL6,downstream_gene_variant,,ENST00000585556,;RDM1,synonymous_variant,p.%3D,ENST00000585884,;RDM1,synonymous_variant,p.%3D,ENST00000585939,;RDM1,synonymous_variant,p.%3D,ENST00000591420,;RDM1,synonymous_variant,p.%3D,ENST00000436836,;RDM1,intron_variant,,ENST00000592489,;	292	97	148	SUCCESS
KRT40	125115	.	GRCh37	17	39134282	39134282	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000377755.4:c.*167T>C			ENST00000377755				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42320.1	.	MUTECT|MUSE	.	GCCGGAAGGAG	NONE	.	.	.	.	.	ENSP00000366984	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000377755	Transcript	.	.	ENSG00000204889	26707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1C40_HUMAN	KRT40	HGNC	.	.	UPI00003B288A	SNV	KRT40,3_prime_UTR_variant,,ENST00000377755,;KRT40,3_prime_UTR_variant,,ENST00000398486,;AC004231.2,downstream_gene_variant,,ENST00000418393,;KRT40,3_prime_UTR_variant,,ENST00000461923,;	1498	8	11	SUCCESS
ABCA9	10350	.	GRCh37	17	66971951	66971951	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	31	0	ENST00000340001.4:c.*105A>T			ENST00000340001	NM_080283.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11681.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTTCAAAT	NONE	.	.	.	.	.	ENSP00000342216	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000340001	Transcript	.	.	ENSG00000154258	39	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA9_HUMAN	ABCA9	HGNC	K7EJJ0_HUMAN	.	UPI00000747B1	SNV	ABCA9,3_prime_UTR_variant,,ENST00000370732,;ABCA9,3_prime_UTR_variant,,ENST00000453985,;ABCA9,3_prime_UTR_variant,,ENST00000340001,;	5192	31	39	SUCCESS
RTBDN	83546	.	GRCh37	19	12936625	12936625	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	84	147	0	ENST00000393233.2:c.*519A>T			ENST00000393233	NM_001270440.1	227		0	.	.	.	.	.	A	G	protein_coding	YES	CCDS12283.1	681	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTCGTCCTGG	NONE	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR10517	.	.	ENSP00000326253	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000322912	Transcript	.	.	ENSG00000132026	30310	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RTBDN_HUMAN	RTBDN	HGNC	K7EN64_HUMAN,K7EKV3_HUMAN,K7EIS2_HUMAN	.	UPI000006D823	SNV	RTBDN,synonymous_variant,p.%3D,ENST00000586969,;RTBDN,synonymous_variant,p.%3D,ENST00000589681,;RTBDN,synonymous_variant,p.%3D,ENST00000322912,;RTBDN,synonymous_variant,p.%3D,ENST00000458671,;RTBDN,synonymous_variant,p.%3D,ENST00000592204,;RTBDN,3_prime_UTR_variant,,ENST00000393233,;RTBDN,3_prime_UTR_variant,,ENST00000589272,;RTBDN,downstream_gene_variant,,ENST00000585384,;RTBDN,downstream_gene_variant,,ENST00000587549,;RTBDN,downstream_gene_variant,,ENST00000591512,;RTBDN,downstream_gene_variant,,ENST00000589808,;RTBDN,downstream_gene_variant,,ENST00000589567,;RTBDN,downstream_gene_variant,,ENST00000590404,;CTD-2265O21.3,non_coding_transcript_exon_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;	999	147	97	SUCCESS
ZNF253	56242	.	GRCh37	19	20003672	20003672	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	15	40	0	ENST00000589717.1:c.*116A>T			ENST00000589717	NM_021047.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42532.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGAATGTG	NONE	.	.	.	.	.	ENSP00000468720	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000589717	Transcript	.	.	ENSG00000256771	13497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN253_HUMAN	ZNF253	HGNC	K7EP55_HUMAN	.	UPI0000070CE8	SNV	ZNF253,3_prime_UTR_variant,,ENST00000355650,;ZNF253,3_prime_UTR_variant,,ENST00000589717,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,intron_variant,,ENST00000585571,;	1708	40	17	SUCCESS
ZNF525	170958	.	GRCh37	19	53885429	53885429	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	5	27	0				ENST00000355326				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	CTTTCAGTTTC	NONE	.	.	.	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,3_prime_UTR_variant,,ENST00000474037,;ZNF525,3_prime_UTR_variant,,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000355326,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	1731	27	49	SUCCESS
HAPLN2	60484	.	GRCh37	1	156595239	156595239	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	81	36	95	1	ENST00000255039.1:c.*63G>A			ENST00000255039	NM_021817.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1148.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCGCCACC	NONE	.	.	.	.	.	ENSP00000255039	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000255039	Transcript	.	.	ENSG00000132702	17410	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPLN2_HUMAN	HAPLN2	HGNC	Q5T3J1_HUMAN,Q5T3J0_HUMAN	.	UPI00000012E0	SNV	HAPLN2,3_prime_UTR_variant,,ENST00000255039,;HAPLN2,downstream_gene_variant,,ENST00000456112,;HAPLN2,non_coding_transcript_exon_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000482204,;HAPLN2,downstream_gene_variant,,ENST00000487988,;	1493	96	117	SUCCESS
LYST	1130	.	GRCh37	1	235826071	235826071	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	14	10	0	ENST00000389793.2:c.*169A>T			ENST00000389793	NM_000081.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31062.1	.	MUTECT|MUSE	.	TCCTCTTAGGA	NONE	.	.	.	.	.	ENSP00000374444	.	53/53	.	.	.	.	.	.	.	.	.	53/53	PASS	ENST00000389794	Transcript	.	.	ENSG00000143669	1968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LYST_HUMAN	LYST	HGNC	.	.	UPI000020509E	SNV	LYST,3_prime_UTR_variant,,ENST00000389793,;LYST,3_prime_UTR_variant,,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	11750	10	21	SUCCESS
ID3	3399	.	GRCh37	1	23885422	23885422	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	64	1	ENST00000374561.5:c.*25+4A>T			ENST00000374561	NM_002167.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS237.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATACTCACCT	NONE	.	.	.	.	.	ENSP00000363689	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000374561	Transcript	.	.	ENSG00000117318	5362	.	.	LOW	2/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ID3_HUMAN	ID3	HGNC	.	.	UPI000016A132	SNV	ID3,splice_region_variant,,ENST00000374561,;ID3,splice_region_variant,,ENST00000463312,;ID3,non_coding_transcript_exon_variant,,ENST00000486541,;	.	65	44	SUCCESS
NR0B2	8431	.	GRCh37	1	27238142	27238142	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	29	0	ENST00000254227.3:c.*194G>C			ENST00000254227	NM_021969.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS291.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGCAGCTG	NONE	.	.	.	.	.	ENSP00000254227	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000254227	Transcript	.	.	ENSG00000131910	7961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NR0B2_HUMAN	NR0B2	HGNC	.	.	UPI0000135956	SNV	NR0B2,3_prime_UTR_variant,,ENST00000254227,;NUDC,intron_variant,,ENST00000435827,;	994	29	17	SUCCESS
COL9A2	1298	.	GRCh37	1	40766752	40766752	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	54	0	ENST00000372748.3:c.*102C>A			ENST00000372748	NM_001852.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS450.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGGGGGA	NONE	.	.	.	.	.	ENSP00000361834	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000372748	Transcript	.	.	ENSG00000049089	2218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO9A2_HUMAN	COL9A2	HGNC	D3DPU8_HUMAN	.	UPI0000126D47	SNV	COL9A2,3_prime_UTR_variant,,ENST00000372748,;COL9A2,downstream_gene_variant,,ENST00000427563,;COL9A2,downstream_gene_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;	2269	54	51	SUCCESS
C8A	731	.	GRCh37	1	57383434	57383434	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	95	78	173	0	ENST00000361249.3:c.*45C>G			ENST00000361249	NM_000562.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS606.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCCCTGCA	NONE	.	.	.	.	.	ENSP00000354458	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000361249	Transcript	.	.	ENSG00000157131	1352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO8A_HUMAN	C8A	HGNC	.	.	UPI0000127C5A	SNV	C8A,3_prime_UTR_variant,,ENST00000361249,;	1896	173	174	SUCCESS
OLIG2	10215	.	GRCh37	21	34400278	34400278	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1601713870	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	26	0	ENST00000333337.3:c.*136G>A			ENST00000333337				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13620.1	.	RADIA|MUTECT|MUSE	.	GGTGGGGATTC	NONE	.	.	.	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,3_prime_UTR_variant,,ENST00000382357,;OLIG2,3_prime_UTR_variant,,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	2036	26	12	SUCCESS
IFNAR1	3454	.	GRCh37	21	34728056	34728056	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	8	0	ENST00000270139.3:c.*201G>T			ENST00000270139	NM_000629.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13624.1	.	MUTECT|MUSE	.	CGGTGGCTCAC	NONE	.	.	.	.	.	ENSP00000270139	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000270139	Transcript	.	.	ENSG00000142166	5432	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INAR1_HUMAN	IFNAR1	HGNC	B4DNT3_HUMAN	.	UPI000006FE3C	SNV	IFNAR1,3_prime_UTR_variant,,ENST00000442357,;IFNAR1,3_prime_UTR_variant,,ENST00000270139,;IFNAR1,downstream_gene_variant,,ENST00000416947,;	2027	8	8	SUCCESS
CACNG2	10369	.	GRCh37	22	36960321	36960321	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	33	60	0	ENST00000300105.6:c.*77C>T			ENST00000300105	NM_006078.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13931.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGAGGGTCTGG	NONE	.	.	.	.	.	ENSP00000300105	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300105	Transcript	.	.	ENSG00000166862	1406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	SNV	CACNG2,3_prime_UTR_variant,,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	2031	60	69	SUCCESS
MGAT3	4248	.	GRCh37	22	39887931	39887931	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs183751844	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	45	52	0	ENST00000341184.6:c.*2977C>T			ENST00000341184	NM_002409.4			0	.	T:0	.	T:0.0043	.	T	.	protein_coding	YES	CCDS13994.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTCACGTCGG	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000345270	T:0	2/2	.	.	.	.	.	.	.	.	rs183751844	2/2	PASS	ENST00000341184	Transcript	.	T:0.0006	ENSG00000128268	7046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,3_prime_UTR_variant,,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	4794	52	71	SUCCESS
RP11-71H17.7	0	.	GRCh37	3	124437851	124437851	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs770837121	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	92	17	98	0				ENST00000568966				0	.	.	.	.	.	T	.	sense_overlapping	YES	.	.	RADIA|MUTECT|MUSE	.	GATCTCGGGTC	NONE	byFrequency	4784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770837121	.	PASS	ENST00000568966	Transcript	.	.	ENSG00000260391	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-71H17.7	Clone_based_vega_gene	.	.	.	SNV	KALRN,missense_variant,p.Ser1135Leu,ENST00000291478,;KALRN,missense_variant,p.Ser2801Leu,ENST00000354186,;KALRN,missense_variant,p.Ser1103Leu,ENST00000428018,;KALRN,missense_variant,p.Ser2832Leu,ENST00000360013,;RP11-71H17.7,upstream_gene_variant,,ENST00000568966,;	.	98	110	SUCCESS
RP11-71H17.7	0	.	GRCh37	3	124437876	124437876	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	18	91	0				ENST00000568966				0	.	.	.	.	.	A	.	sense_overlapping	YES	.	.	RADIA|MUTECT|MUSE	.	CACCTGCTGGG	NONE	.	4759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000568966	Transcript	.	.	ENSG00000260391	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	RP11-71H17.7	Clone_based_vega_gene	.	.	.	SNV	KALRN,synonymous_variant,p.%3D,ENST00000291478,;KALRN,synonymous_variant,p.%3D,ENST00000354186,;KALRN,synonymous_variant,p.%3D,ENST00000428018,;KALRN,synonymous_variant,p.%3D,ENST00000360013,;RP11-71H17.7,upstream_gene_variant,,ENST00000568966,;	.	91	113	SUCCESS
DNAJB8	165721	.	GRCh37	3	128181316	128181316	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	36	0	ENST00000319153.3:c.*74A>G			ENST00000319153	NM_153330.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3048.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTATGTCTG	NONE	.	.	.	.	.	ENSP00000417418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000469083	Transcript	.	.	ENSG00000179407	23699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DNJB8_HUMAN	DNAJB8	HGNC	.	.	UPI0000129437	SNV	DNAJB8,3_prime_UTR_variant,,ENST00000319153,;DNAJB8,3_prime_UTR_variant,,ENST00000469083,;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;	3331	36	28	SUCCESS
NLN	57486	.	GRCh37	5	65118764	65118764	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs375732776	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	12	72	0	ENST00000380985.5:c.*21G>A			ENST00000380985	NM_020726.4			0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS3989.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCCGTCCAT	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000370372	.	13/13	.	.	.	.	.	.	.	.	rs375732776	13/13	PASS	ENST00000380985	Transcript	.	.	ENSG00000123213	16058	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEUL_HUMAN	NLN	HGNC	Q8NDD9_HUMAN,E9PCB6_HUMAN	.	UPI000003989D	SNV	NLN,3_prime_UTR_variant,,ENST00000511299,;NLN,3_prime_UTR_variant,,ENST00000502464,;NLN,3_prime_UTR_variant,,ENST00000380985,;NLN,intron_variant,,ENST00000509935,;NLN,non_coding_transcript_exon_variant,,ENST00000515595,;NLN,non_coding_transcript_exon_variant,,ENST00000506799,;	2314	72	80	SUCCESS
FOXD1	2297	.	GRCh37	5	72742703	72742703	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	32	0	ENST00000499003.3:c.*105A>T			ENST00000499003	NM_004472.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	GCGCCTGGAGG	NONE	.	.	.	.	.	ENSP00000462795	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000499003	Transcript	.	.	ENSG00000251493	3802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FOXD1	HGNC	J3KT45_HUMAN	.	UPI000268B492	SNV	FOXD1,3_prime_UTR_variant,,ENST00000499003,;RP11-79P5.2,intron_variant,,ENST00000514661,;RP11-79P5.7,upstream_gene_variant,,ENST00000512310,;FOXD1,intron_variant,,ENST00000513595,;AC099522.1,non_coding_transcript_exon_variant,,ENST00000328926,;	1650	32	37	SUCCESS
TNXB	7148	.	GRCh37	6	32015532	32015532	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs1307962610	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	19	42	0				ENST00000451343	NM_032470.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4736.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATGGGGC	NONE	.	1627	.	.	.	ENSP00000407685	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000451343	Transcript	.	.	ENSG00000168477	11976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENX_HUMAN	TNXB	HGNC	B6RHJ5_HUMAN	.	UPI0000000E8E	SNV	TNXB,missense_variant,p.Ile3433Phe,ENST00000375247,;TNXB,missense_variant,p.Ile3435Phe,ENST00000375244,;TNXB,upstream_gene_variant,,ENST00000451343,;TNXB,upstream_gene_variant,,ENST00000490077,;TNXB,upstream_gene_variant,,ENST00000498094,;	.	42	69	SUCCESS
GIMAP8	155038	.	GRCh37	7	150175085	150175085	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	10	0	ENST00000307271.3:c.*217A>T			ENST00000307271	NM_175571.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34777.1	.	MUTECT|MUSE	.	ATACAAGGTGG	NONE	.	.	.	.	.	ENSP00000305107	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000307271	Transcript	.	.	ENSG00000171115	21792	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GIMA8_HUMAN	GIMAP8	HGNC	.	.	UPI0000168646	SNV	GIMAP8,3_prime_UTR_variant,,ENST00000307271,;	2789	10	8	SUCCESS
ITGB8	3696	.	GRCh37	7	20449870	20449870	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	13	0	ENST00000222573.4:c.*250A>T			ENST00000222573	NM_002214.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5370.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATATAACTTA	NONE	.	.	.	.	.	ENSP00000222573	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000222573	Transcript	.	.	ENSG00000105855	6163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITB8_HUMAN	ITGB8	HGNC	B4DHD4_HUMAN	.	UPI000012DA14	SNV	ITGB8,3_prime_UTR_variant,,ENST00000222573,;ITGB8,3_prime_UTR_variant,,ENST00000537992,;	3244	13	17	SUCCESS
TOMM7	54543	.	GRCh37	7	22852531	22852531	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	20	0	ENST00000358435.4:c.*258del			ENST00000358435	NM_019059.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5376.1	.	INDELOCATOR*|PINDEL	.	AGTACCAAAAGG	NONE	.	.	.	.	.	ENSP00000351214	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000358435	Transcript	.	.	ENSG00000196683	21648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOM7_HUMAN	TOMM7	HGNC	Q75MR5_HUMAN	.	UPI0000000C34	deletion	TOMM7,3_prime_UTR_variant,,ENST00000358435,;TOMM7,downstream_gene_variant,,ENST00000372879,;TOMM7,downstream_gene_variant,,ENST00000405021,;TOMM7,non_coding_transcript_exon_variant,,ENST00000463284,;TOMM7,downstream_gene_variant,,ENST00000496129,;TOMM7,downstream_gene_variant,,ENST00000483581,;	498	20	21	SUCCESS
POM121L12	285877	.	GRCh37	7	53104385	53104385	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1358432780	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	24	84	0	ENST00000408890.4:c.*130G>A			ENST00000408890	NM_182595.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43584.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCGTCTGC	NONE	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,3_prime_UTR_variant,,ENST00000408890,;	1037	84	61	SUCCESS
GTF2IRD2B	389524	.	GRCh37	7	74536694	74536694	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs782052724	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	290	114	455	0				ENST00000472837		81		0	.	.	.	.	.	T	V/F	protein_coding	YES	CCDS34659.1	241	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGCGTTGCA	NONE	byFrequency	.	hmmpanther:PTHR11697:SF35,hmmpanther:PTHR11697	.	.	ENSP00000308080	.	4/16	.	.	.	.	.	.	.	.	rs782052724	4/16	PASS	ENST00000312575	Transcript	.	.	ENSG00000174428	33125	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	benign(0.061)	.	deleterious_low_confidence(0.01)	.	GTD2B_HUMAN	GTF2IRD2B	HGNC	Q86Y00_HUMAN,G8JLN0_HUMAN	.	UPI0000251DF5	SNV	GTF2IRD2B,missense_variant,p.Val81Phe,ENST00000430511,;GTF2IRD2B,missense_variant,p.Val81Phe,ENST00000312575,;GTF2IRD2B,missense_variant,p.Val81Phe,ENST00000356115,;GTF2IRD2B,missense_variant,p.Val81Phe,ENST00000423666,;GTF2IRD2B,splice_region_variant,,ENST00000398546,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000528574,;GTF2IRD2B,upstream_gene_variant,,ENST00000472837,;GTF2IRD2B,upstream_gene_variant,,ENST00000526399,;	416	455	405	SUCCESS
PEG10	23089	.	GRCh37	7	94294507	94294507	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	99	87	163	0	ENST00000482108.1:c.*661T>A			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATGTGTATT	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,3_prime_UTR_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	2118	163	186	SUCCESS
SDCCAG3	0	.	GRCh37	9	139297178	139297178	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	32	0	ENST00000357365.3:c.*62C>G			ENST00000357365	NM_001039707.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43904.1	.	RADIA|MUTECT|MUSE	.	ATTTAGATCGA	NONE	.	.	.	.	.	ENSP00000349929	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000357365	Transcript	.	.	ENSG00000165689	10667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SDCG3_HUMAN	SDCCAG3	HGNC	.	.	UPI00006C511A	SNV	SDCCAG3,3_prime_UTR_variant,,ENST00000417512,;SDCCAG3,3_prime_UTR_variant,,ENST00000298537,;SDCCAG3,3_prime_UTR_variant,,ENST00000357365,;SDCCAG3,3_prime_UTR_variant,,ENST00000371725,;SNAPC4,upstream_gene_variant,,ENST00000298532,;SDCCAG3,downstream_gene_variant,,ENST00000371723,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000466579,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000461693,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000481114,;SDCCAG3,downstream_gene_variant,,ENST00000468963,;SDCCAG3,downstream_gene_variant,,ENST00000486441,;	1500	32	13	SUCCESS
DCAF8L1	139425	.	GRCh37	X	27997063	27997063	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	0	30	30	0	ENST00000441525.1:c.*586G>T			ENST00000441525	NM_001017930.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35222.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACCGATC	NONE	.	.	.	.	.	ENSP00000405222	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000441525	Transcript	.	.	ENSG00000226372	31810	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC8L1_HUMAN	DCAF8L1	HGNC	.	.	UPI000022DD1B	SNV	DCAF8L1,3_prime_UTR_variant,,ENST00000441525,;	2504	30	30	SUCCESS
SRPX	8406	.	GRCh37	X	38008840	38008840	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	15	20	0	ENST00000378533.3:c.*124T>A			ENST00000378533	NM_006307.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14245.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGCTCATAATA	NONE	.	.	.	.	.	ENSP00000367794	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000378533	Transcript	.	.	ENSG00000101955	11309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRPX_HUMAN	SRPX	HGNC	.	.	UPI0000135F5C	SNV	SRPX,3_prime_UTR_variant,,ENST00000378533,;SRPX,3_prime_UTR_variant,,ENST00000343800,;SRPX,3_prime_UTR_variant,,ENST00000432886,;SRPX,3_prime_UTR_variant,,ENST00000544439,;SRPX,3_prime_UTR_variant,,ENST00000538295,;TM4SF2,intron_variant,,ENST00000465127,;SRPX,non_coding_transcript_exon_variant,,ENST00000479015,;SRPX,downstream_gene_variant,,ENST00000461865,;	1626	20	18	SUCCESS
CPXCR1	53336	.	GRCh37	X	88009463	88009463	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7PZ-01	TCGA-ED-A7PZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	153	216	0	ENST00000276127.4:c.*142T>A			ENST00000276127	NM_033048.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14458.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCTCAGTA	NONE	.	.	.	.	.	ENSP00000276127	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000276127	Transcript	.	.	ENSG00000147183	2332	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPXCR_HUMAN	CPXCR1	HGNC	.	.	UPI000007369F	SNV	CPXCR1,3_prime_UTR_variant,,ENST00000276127,;CPXCR1,3_prime_UTR_variant,,ENST00000373111,;	1307	216	179	SUCCESS
CEBPG	1054	.	GRCh37	19	33871377	33871377	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1193873928	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	20	93	0	ENST00000284000.4:c.*779A>G			ENST00000284000	NM_001806.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12432.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGAAACTTGT	NONE	.	.	.	.	.	ENSP00000284000	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000284000	Transcript	.	.	ENSG00000153879	1837	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CEBPG_HUMAN	CEBPG	HGNC	K7ELC9_HUMAN	.	UPI00001274A6	SNV	CEBPG,3_prime_UTR_variant,,ENST00000585933,;CEBPG,3_prime_UTR_variant,,ENST00000284000,;	1894	93	125	SUCCESS
CEBPG	1054	.	GRCh37	19	33871881	33871881	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	16	69	0	ENST00000284000.4:c.*1288del			ENST00000284000	NM_001806.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12432.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGACTAAAAAA	NONE	.	.	.	.	.	ENSP00000284000	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000284000	Transcript	.	.	ENSG00000153879	1837	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CEBPG_HUMAN	CEBPG	HGNC	K7ELC9_HUMAN	.	UPI00001274A6	deletion	CEBPG,3_prime_UTR_variant,,ENST00000585933,;CEBPG,3_prime_UTR_variant,,ENST00000284000,;	2398	69	125	SUCCESS
CEBPG	1054	.	GRCh37	19	33872206	33872206	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	17	104	0	ENST00000284000.4:c.*1608A>T			ENST00000284000	NM_001806.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12432.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAAGATTG	NONE	.	.	.	.	.	ENSP00000284000	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000284000	Transcript	.	.	ENSG00000153879	1837	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CEBPG_HUMAN	CEBPG	HGNC	K7ELC9_HUMAN	.	UPI00001274A6	SNV	CEBPG,3_prime_UTR_variant,,ENST00000585933,;CEBPG,3_prime_UTR_variant,,ENST00000284000,;	2723	104	148	SUCCESS
IGFN1	91156	.	GRCh37	1	201196308	201196308	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	27	0	ENST00000295591.8:c.*542A>T			ENST00000295591		3695		0	.	.	.	.	.	T	A	protein_coding	YES	CCDS53455.1	11085	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGCAGTCAG	NONE	.	.	Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF145,PROSITE_profiles:PS50835	.	.	ENSP00000334714	.	23/24	.	.	.	.	.	.	.	.	.	23/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,synonymous_variant,p.%3D,ENST00000412892,;IGFN1,synonymous_variant,p.%3D,ENST00000335211,;IGFN1,3_prime_UTR_variant,,ENST00000295591,;RP11-567E21.3,upstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	11215	27	40	SUCCESS
THEM6	51337	.	GRCh37	8	143816912	143816912	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A7XO-01	TCGA-ED-A7XO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	19	0	ENST00000336138.3:c.*55A>G			ENST00000336138	NM_016647.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6386.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGCCCACAGAT	NONE	.	.	.	.	.	ENSP00000338607	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000336138	Transcript	.	.	ENSG00000130193	29656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THEM6_HUMAN	THEM6	HGNC	.	.	UPI000003778B	SNV	THEM6,3_prime_UTR_variant,,ENST00000336138,;THEM6,3_prime_UTR_variant,,ENST00000520217,;THEM6,non_coding_transcript_exon_variant,,ENST00000518798,;	826	19	24	SUCCESS
TMEM236	653567	.	GRCh37	10	17840644	17840645	+	3_prime_UTR_variant	3'UTR	DEL	TG	TG	-	rs1414223273	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	TG	TG	.	.	.	.	.	.	.	.	.	.	.	.	.	85	41	88	0	ENST00000377495.1:c.*2142_*2143del			ENST00000377495	NM_001098844.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41492.1	.	INDELOCATOR|VARSCANI	.	TCACACTGTAAAA	NONE	.	.	.	.	.	ENSP00000366715	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000377495	Transcript	.	.	ENSG00000148483	23473	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM236_HUMAN	TMEM236	HGNC	.	.	UPI000041A684	deletion	TMEM236,3_prime_UTR_variant,,ENST00000377495,;TMEM236,intron_variant,,ENST00000338221,;	3241-3242	88	126	SUCCESS
IFT81	28981	.	GRCh37	12	110656216	110656216	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	29	0	ENST00000242591.5:c.*185G>C			ENST00000242591	NM_014055.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41831.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AAAAAGAGGCT	NONE	.	.	.	.	.	ENSP00000242591	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000242591	Transcript	.	.	ENSG00000122970	14313	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IFT81_HUMAN	IFT81	HGNC	.	.	UPI000000D78F	SNV	IFT81,3_prime_UTR_variant,,ENST00000242591,;IFT81,3_prime_UTR_variant,,ENST00000552912,;IFT81,3_prime_UTR_variant,,ENST00000550156,;IFT81,non_coding_transcript_exon_variant,,ENST00000550748,;	2722	29	27	SUCCESS
RALGAPA1	253959	.	GRCh37	14	36008806	36008806	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	16	59	0	ENST00000389698.3:c.*114G>A			ENST00000389698	NM_014990.1	2065		0	.	.	.	.	.	T	S/N	protein_coding	YES	CCDS32064.1	6194	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCTAGTT	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000302647	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000307138	Transcript	.	.	ENSG00000174373	17770	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.961)	.	deleterious_low_confidence(0)	.	RGPA1_HUMAN	RALGAPA1	HGNC	Q9H984_HUMAN	.	UPI00003B5C51	SNV	RALGAPA1,missense_variant,p.Ser704Asn,ENST00000554259,;RALGAPA1,missense_variant,p.Ser2065Asn,ENST00000307138,;RALGAPA1,3_prime_UTR_variant,,ENST00000389698,;RALGAPA1,3_prime_UTR_variant,,ENST00000554573,;RALGAPA1,3_prime_UTR_variant,,ENST00000258840,;RALGAPA1,downstream_gene_variant,,ENST00000382366,;INSM2,downstream_gene_variant,,ENST00000307169,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000556106,;	6663	59	55	SUCCESS
WIPF2	147179	.	GRCh37	17	38434624	38434624	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	31	0	ENST00000323571.4:c.*147T>A			ENST00000323571	NM_133264.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11364.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGCTCACCT	NONE	.	.	.	.	.	ENSP00000320924	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000323571	Transcript	.	.	ENSG00000171475	30923	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPF2_HUMAN	WIPF2	HGNC	J3QKM5_HUMAN,J3KSA3_HUMAN	.	UPI000004D250	SNV	WIPF2,3_prime_UTR_variant,,ENST00000323571,;WIPF2,3_prime_UTR_variant,,ENST00000536600,;WIPF2,3_prime_UTR_variant,,ENST00000394103,;WIPF2,3_prime_UTR_variant,,ENST00000585043,;WIPF2,downstream_gene_variant,,ENST00000583130,;WIPF2,downstream_gene_variant,,ENST00000583268,;WIPF2,non_coding_transcript_exon_variant,,ENST00000494757,;WIPF2,3_prime_UTR_variant,,ENST00000582781,;WIPF2,downstream_gene_variant,,ENST00000578623,;	1710	31	40	SUCCESS
PLAUR	5329	.	GRCh37	19	44152979	44152979	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	25	0	ENST00000340093.3:c.*63C>T			ENST00000340093	NM_002659.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12628.1	.	MUTECT|MUSE	.	GCTGGGAGCCG	NONE	.	.	.	.	.	ENSP00000339328	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000340093	Transcript	.	.	ENSG00000011422	9053	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UPAR_HUMAN	PLAUR	HGNC	Q9UPI5_HUMAN,Q6GY32_HUMAN,M0R0H5_HUMAN,M0QYR6_HUMAN	.	UPI000000D8C1	SNV	PLAUR,3_prime_UTR_variant,,ENST00000601723,;PLAUR,3_prime_UTR_variant,,ENST00000593447,;PLAUR,3_prime_UTR_variant,,ENST00000221264,;PLAUR,3_prime_UTR_variant,,ENST00000340093,;PLAUR,intron_variant,,ENST00000339082,;PLAUR,downstream_gene_variant,,ENST00000599892,;PLAUR,downstream_gene_variant,,ENST00000595038,;PLAUR,downstream_gene_variant,,ENST00000593714,;PLAUR,downstream_gene_variant,,ENST00000594364,;	1301	25	21	SUCCESS
C1orf228	0	.	GRCh37	1	45191175	45191175	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs761949466	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	30	0	ENST00000458657.2:c.*100C>T			ENST00000458657				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53311.1	.	MUTECT|MUSE|VARSCANS	.	TGGCTCCAGGG	NONE	.	.	.	.	.	ENSP00000420716	.	13/13	.	.	.	.	.	.	.	.	rs761949466	13/13	PASS	ENST00000458657	Transcript	.	.	ENSG00000198520	34345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA228_HUMAN	C1orf228	HGNC	F8WDG2_HUMAN,C9JCY2_HUMAN,C9JA22_HUMAN,C9J579_HUMAN,C9J477_HUMAN	.	UPI0000EE3082	SNV	C1orf228,3_prime_UTR_variant,,ENST00000535358,;C1orf228,3_prime_UTR_variant,,ENST00000458657,;C1orf228,downstream_gene_variant,,ENST00000434068,;RNU5F-1,upstream_gene_variant,,ENST00000362507,;C1orf228,downstream_gene_variant,,ENST00000446792,;C1orf228,downstream_gene_variant,,ENST00000434520,;C1orf228,downstream_gene_variant,,ENST00000444751,;C1orf228,downstream_gene_variant,,ENST00000421398,;C1orf228,non_coding_transcript_exon_variant,,ENST00000357508,;C1orf228,non_coding_transcript_exon_variant,,ENST00000418779,;C1orf228,non_coding_transcript_exon_variant,,ENST00000568406,;C1orf228,downstream_gene_variant,,ENST00000427321,;C1orf228,downstream_gene_variant,,ENST00000424484,;C1orf228,downstream_gene_variant,,ENST00000444525,;C1orf228,downstream_gene_variant,,ENST00000440383,;C1orf228,downstream_gene_variant,,ENST00000427336,;	1730	30	27	SUCCESS
GBP5	115362	.	GRCh37	1	89726223	89726223	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	18	0				ENST00000370459				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS722.1	.	MUTECT|MUSE	.	TGTACATTTTA	NONE	.	.	.	.	.	ENSP00000340396	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000343435	Transcript	.	.	ENSG00000154451	19895	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBP5_HUMAN	GBP5	HGNC	E7ETN8_HUMAN	.	UPI000004B6D7	SNV	GBP5,3_prime_UTR_variant,,ENST00000343435,;GBP5,downstream_gene_variant,,ENST00000443807,;GBP5,downstream_gene_variant,,ENST00000370459,;RP4-620F22.2,upstream_gene_variant,,ENST00000437128,;GBP5,downstream_gene_variant,,ENST00000471171,;GBP5,downstream_gene_variant,,ENST00000490568,;GBP5,non_coding_transcript_exon_variant,,ENST00000481145,;	2462	18	19	SUCCESS
DOCK2	1794	.	GRCh37	5	169509910	169509910	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	22	0	ENST00000256935.8:c.*48T>C			ENST00000256935	NM_004946.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4371.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCTGGAAG	NONE	.	.	.	.	.	ENSP00000256935	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,3_prime_UTR_variant,,ENST00000540750,;DOCK2,3_prime_UTR_variant,,ENST00000256935,;DOCK2,3_prime_UTR_variant,,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	5621	22	22	SUCCESS
FAM110B	90362	.	GRCh37	8	59061332	59061332	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	57	157	0	ENST00000361488.3:c.*1430G>T			ENST00000361488	NM_147189.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6170.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCTGTGGTG	NONE	.	.	.	.	.	ENSP00000355204	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361488	Transcript	.	.	ENSG00000169122	28587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F110B_HUMAN	FAM110B	HGNC	.	.	UPI000006E853	SNV	FAM110B,3_prime_UTR_variant,,ENST00000361488,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,intron_variant,,ENST00000520369,;FAM110B,downstream_gene_variant,,ENST00000521413,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000519262,;	3423	157	142	SUCCESS
ZXDB	158586	.	GRCh37	X	57621490	57621491	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs1162152790	.	TCGA-ED-A7XP-01	TCGA-ED-A7XP-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	279	103	382	0	ENST00000374888.1:c.*604dup			ENST00000374888	NM_007157.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35313.1	.	INDELOCATOR|VARSCANI	.	ATATGGAAAAA	NONE	.	.	.	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	insertion	ZXDB,3_prime_UTR_variant,,ENST00000374888,;	3222-3223	382	382	SUCCESS
SMYD4	114826	.	GRCh37	17	1684503	1684503	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	25	65	0	ENST00000305513.7:c.*77G>T			ENST00000305513	NM_052928.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11013.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCCACCATAC	NONE	.	.	.	.	.	ENSP00000304360	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000305513	Transcript	.	.	ENSG00000186532	21067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMYD4_HUMAN	SMYD4	HGNC	I3L496_HUMAN,I3L428_HUMAN,I3L2P4_HUMAN	.	UPI000013EA5C	SNV	SMYD4,3_prime_UTR_variant,,ENST00000305513,;SERPINF1,downstream_gene_variant,,ENST00000572048,;SERPINF1,downstream_gene_variant,,ENST00000254722,;SERPINF1,downstream_gene_variant,,ENST00000576406,;SERPINF1,downstream_gene_variant,,ENST00000573763,;SMYD4,downstream_gene_variant,,ENST00000491788,;SMYD4,downstream_gene_variant,,ENST00000476292,;SERPINF1,downstream_gene_variant,,ENST00000572517,;	2660	65	47	SUCCESS
KCNJ12	3768	.	GRCh37	17	21321484	21321484	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	26	75	0				ENST00000331718	NM_001194958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11219.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGTCCATGGT	NONE	.	.	.	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,3_prime_UTR_variant,,ENST00000583088,;KCNJ12,downstream_gene_variant,,ENST00000331718,;	3725	75	53	SUCCESS
ZNF580	51157	.	GRCh37	19	56154722	56154722	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	28	100	0	ENST00000325333.5:c.*329G>C			ENST00000325333	NM_207115.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12931.1	.	RADIA|MUTECT|MUSE	.	CGGTGGTTGTC	NONE	.	.	.	.	.	ENSP00000443957	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000543039	Transcript	.	.	ENSG00000213015	29473	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN580_HUMAN	ZNF580	HGNC	K7ERU0_HUMAN,K7ENY2_HUMAN,K7EJ53_HUMAN	.	UPI0000073282	SNV	ZNF580,3_prime_UTR_variant,,ENST00000325333,;ZNF580,3_prime_UTR_variant,,ENST00000545125,;ZNF580,3_prime_UTR_variant,,ENST00000543039,;CCDC106,intron_variant,,ENST00000592996,;ZNF581,intron_variant,,ENST00000587252,;ZNF581,intron_variant,,ENST00000585995,;ZNF580,downstream_gene_variant,,ENST00000592881,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF581,upstream_gene_variant,,ENST00000588537,;CCDC106,upstream_gene_variant,,ENST00000308964,;ZNF581,upstream_gene_variant,,ENST00000270451,;CCDC106,upstream_gene_variant,,ENST00000591578,;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000586790,;CCDC106,upstream_gene_variant,,ENST00000593069,;CCDC106,upstream_gene_variant,,ENST00000587213,;	1305	100	88	SUCCESS
RAP2B	5912	.	GRCh37	3	152881827	152881828	+	3_prime_UTR_variant	3'UTR	DEL	GG	GG	-	novel	.	TCGA-ED-A82E-01	TCGA-ED-A82E-10	GG	GG	.	.	.	.	.	.	.	.	.	.	.	.	.	91	9	83	0	ENST00000323534.2:c.*795_*796del			ENST00000323534	NM_002886.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3170.1	.	INDELOCATOR|VARSCANI	.	ATCAAAGGGGAGT	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	2	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	deletion	RAP2B,3_prime_UTR_variant,,ENST00000323534,;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	1799-1800	83	101	SUCCESS
SYT15	83849	.	GRCh37	10	46959945	46959945	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs781901512	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	75	15	108	0				ENST00000374321	NM_031912.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44376.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCACCTTGGAA	NONE	.	1989	.	.	.	ENSP00000363441	.	.	.	.	.	.	.	.	.	.	rs781901512	.	PASS	ENST00000374321	Transcript	.	.	ENSG00000204176	17167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT15_HUMAN	SYT15	HGNC	.	.	UPI00001AA161	SNV	SYT15,splice_region_variant,,ENST00000503753,;SYT15,splice_region_variant,,ENST00000374325,;SYT15,splice_region_variant,,ENST00000374328,;SYT15,3_prime_UTR_variant,,ENST00000374323,;SYT15,downstream_gene_variant,,ENST00000374321,;RP11-38L15.3,intron_variant,,ENST00000506914,;SYT15,splice_region_variant,,ENST00000449358,;	.	108	91	SUCCESS
FTH1	2495	.	GRCh37	11	61732056	61732056	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	21	81	0	ENST00000273550.7:c.*143A>G			ENST00000273550	NM_002032.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44623.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTATTTGAA	NONE	.	.	.	.	.	ENSP00000399709	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000449131	Transcript	.	.	ENSG00000167995	12703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BEST1_HUMAN	BEST1	HGNC	G8JLA7_HUMAN	.	UPI0000232791	SNV	BEST1,3_prime_UTR_variant,,ENST00000449131,;FTH1,3_prime_UTR_variant,,ENST00000273550,;FTH1,intron_variant,,ENST00000529191,;FTH1,intron_variant,,ENST00000529631,;FTH1,intron_variant,,ENST00000530019,;BEST1,downstream_gene_variant,,ENST00000378042,;FTH1,downstream_gene_variant,,ENST00000529548,;BEST1,downstream_gene_variant,,ENST00000378043,;FTH1,downstream_gene_variant,,ENST00000532601,;FTH1,downstream_gene_variant,,ENST00000526640,;BEST1,downstream_gene_variant,,ENST00000435278,;BEST1,downstream_gene_variant,,ENST00000534553,;AP003733.1,upstream_gene_variant,,ENST00000601917,;BEST1,downstream_gene_variant,,ENST00000526988,;BEST1,downstream_gene_variant,,ENST00000301774,;FTH1,3_prime_UTR_variant,,ENST00000532829,;FTH1,3_prime_UTR_variant,,ENST00000534180,;BEST1,downstream_gene_variant,,ENST00000524926,;FTH1,downstream_gene_variant,,ENST00000534719,;BEST1,downstream_gene_variant,,ENST00000524877,;FTH1,downstream_gene_variant,,ENST00000533138,;	3336	81	49	SUCCESS
NBEA	26960	.	GRCh37	13	36245162	36245162	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	11	36	0	ENST00000400445.3:c.*34T>A			ENST00000400445	NM_015678.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45026.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTGAGAG	NONE	.	.	.	.	.	ENSP00000383295	.	58/58	.	.	.	.	.	.	.	.	.	58/58	PASS	ENST00000400445	Transcript	.	.	ENSG00000172915	7648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NBEA_HUMAN	NBEA	HGNC	.	.	UPI00004FF92F	SNV	NBEA,3_prime_UTR_variant,,ENST00000379922,;NBEA,3_prime_UTR_variant,,ENST00000400445,;NBEA,3_prime_UTR_variant,,ENST00000540320,;NBEA,3_prime_UTR_variant,,ENST00000310336,;NBEA,3_prime_UTR_variant,,ENST00000537702,;NBEA,3_prime_UTR_variant,,ENST00000379939,;NBEA,upstream_gene_variant,,ENST00000461581,;	9409	36	29	SUCCESS
LAMP5	24141	.	GRCh37	20	9510636	9510636	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	22	0	ENST00000246070.2:c.*169G>A			ENST00000246070	NM_012261.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13106.1	.	MUTECT|MUSE	.	GAAGGGGGAGA	NONE	.	.	.	.	.	ENSP00000246070	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,3_prime_UTR_variant,,ENST00000246070,;LAMP5,downstream_gene_variant,,ENST00000427562,;	1504	22	27	SUCCESS
SFT2D3	84826	.	GRCh37	2	128461241	128461241	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	29	83	0	ENST00000310981.4:c.*1491A>G			ENST00000310981	NM_032740.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGAATGATT	NONE	.	.	.	.	.	ENSP00000325377	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000322313	Transcript	.	.	ENSG00000136709	25651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,3_prime_UTR_variant,,ENST00000322313,;SFT2D3,3_prime_UTR_variant,,ENST00000310981,;	6826	83	80	SUCCESS
MYT1L	23040	.	GRCh37	2	1794793	1794793	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	16	53	0	ENST00000399161.2:c.*846G>A			ENST00000399161	NM_015025.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46222.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATCTTCAC	NONE	.	221	.	.	.	ENSP00000396103	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000428368	Transcript	.	.	ENSG00000186487	7623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MYT1L_HUMAN	MYT1L	HGNC	.	.	UPI00004E55EA	SNV	MYT1L,3_prime_UTR_variant,,ENST00000399161,;MYT1L,3_prime_UTR_variant,,ENST00000407844,;MYT1L,downstream_gene_variant,,ENST00000399157,;MYT1L,downstream_gene_variant,,ENST00000428368,;	.	53	33	SUCCESS
PURA	5813	.	GRCh37	5	139494941	139494941	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	349	191	698	2	ENST00000331327.3:c.*206G>A			ENST00000331327	NM_005859.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4220.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TCGCTGGATGT	NONE	.	.	.	.	.	ENSP00000332706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331327	Transcript	1	.	ENSG00000185129	9701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PURA_HUMAN	PURA	HGNC	.	.	UPI0000132B76	SNV	PURA,3_prime_UTR_variant,,ENST00000331327,;PURA,downstream_gene_variant,,ENST00000505703,;PURA,downstream_gene_variant,,ENST00000502351,;	1234	700	540	SUCCESS
RSBN1L	222194	.	GRCh37	7	77408705	77408705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	51	0	ENST00000334955.8:c.*220T>A			ENST00000334955	NM_198467.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43607.1	.	MUTECT|MUSE|VARSCANS	.	GTCTTTAAAAA	NONE	.	.	.	.	.	ENSP00000334040	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334955	Transcript	.	.	ENSG00000187257	24765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RSBNL_HUMAN	RSBN1L	HGNC	C9JM20_HUMAN	.	UPI000020F469	SNV	RSBN1L,3_prime_UTR_variant,,ENST00000334955,;RSBN1L,3_prime_UTR_variant,,ENST00000445288,;RSBN1L,downstream_gene_variant,,ENST00000441514,;RSBN1L,downstream_gene_variant,,ENST00000445512,;	2788	52	37	SUCCESS
PXDNL	137902	.	GRCh37	8	52232395	52232395	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	80	0	ENST00000356297.4:c.*56A>T			ENST00000356297	NM_144651.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47855.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTAAATG	NONE	.	.	.	.	.	ENSP00000348645	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,3_prime_UTR_variant,,ENST00000543296,;PXDNL,3_prime_UTR_variant,,ENST00000522933,;PXDNL,3_prime_UTR_variant,,ENST00000356297,;RP11-401H2.1,intron_variant,,ENST00000521294,;PXDNL,3_prime_UTR_variant,,ENST00000522628,;PXDNL,downstream_gene_variant,,ENST00000519183,;	4549	80	62	SUCCESS
DEFA5	1670	.	GRCh37	8	6912947	6912947	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1464033766	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	19	56	0	ENST00000330590.2:c.*6C>T			ENST00000330590	NM_021010.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5963.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTAGGAAGC	NONE	.	.	.	.	.	ENSP00000329890	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330590	Transcript	.	.	ENSG00000164816	2764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEF5_HUMAN	DEFA5	HGNC	.	.	UPI0000129120	SNV	DEFA5,3_prime_UTR_variant,,ENST00000330590,;	328	56	60	SUCCESS
NIPSNAP3A	25934	.	GRCh37	9	107521626	107521626	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	33	81	0	ENST00000374767.4:c.*7A>G			ENST00000374767	NM_015469.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6760.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTACTGAA	NONE	.	.	.	.	.	ENSP00000363899	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000374767	Transcript	.	.	ENSG00000136783	23619	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPS3A_HUMAN	NIPSNAP3A	HGNC	.	.	UPI0000130401	SNV	NIPSNAP3A,3_prime_UTR_variant,,ENST00000374767,;NIPSNAP3B,upstream_gene_variant,,ENST00000374762,;NIPSNAP3A,downstream_gene_variant,,ENST00000471001,;NIPSNAP3B,upstream_gene_variant,,ENST00000461177,;NIPSNAP3B,upstream_gene_variant,,ENST00000460936,;	856	81	86	SUCCESS
ZXDB	158586	.	GRCh37	X	57621970	57621970	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ED-A8O5-01	TCGA-ED-A8O5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	94	1	ENST00000374888.1:c.*1077T>C			ENST00000374888	NM_007157.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35313.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTCTGATAT	NONE	.	.	.	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	SNV	ZXDB,3_prime_UTR_variant,,ENST00000374888,;	3702	95	83	SUCCESS
TLL2	7093	.	GRCh37	10	98127805	98127805	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs527635760	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	50	0	ENST00000357947.3:c.*40del			ENST00000357947	NM_012465.3			0	.	-:0.0023	.	-:0	.	-	.	protein_coding	YES	CCDS7449.1	.	INDELOCATOR|VARSCANI	.	CAAAACAAAAAA	NONE	byFrequency|byCluster|by1000G	.	.	-:0	.	ENSP00000350630	-:0	21/21	.	.	.	.	.	.	.	.	rs527635760	21/21	PASS	ENST00000357947	Transcript	.	-:0.0006	ENSG00000095587	11844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	-:0	.	.	TLL2_HUMAN	TLL2	HGNC	.	.	UPI0000073AEE	deletion	TLL2,3_prime_UTR_variant,,ENST00000357947,;	3314	50	32	SUCCESS
INSR	3643	.	GRCh37	19	7117056	7117056	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs765405296	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	94	5	145	0	ENST00000302850.5:c.*11C>T			ENST00000302850	NM_000208.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12176.1	.	MUTECT|MUSE	.	GCCACGGTAGG	NONE	.	.	.	.	.	ENSP00000303830	.	22/22	.	.	.	.	.	.	.	.	rs765405296	22/22	PASS	ENST00000302850	Transcript	1	.	ENSG00000171105	6091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	INSR_HUMAN	INSR	HGNC	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN	.	UPI000020324D	SNV	INSR,3_prime_UTR_variant,,ENST00000302850,;INSR,3_prime_UTR_variant,,ENST00000341500,;INSR,downstream_gene_variant,,ENST00000601099,;	4303	145	99	SUCCESS
JUN	3725	.	GRCh37	1	59247544	59247544	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	20	0	ENST00000371222.2:c.*203G>T			ENST00000371222	NM_002228.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS610.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	CTCCACGCCAA	NONE	.	.	.	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	SNV	JUN,3_prime_UTR_variant,,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	2242	20	13	SUCCESS
LAMP5	24141	.	GRCh37	20	9510582	9510582	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ED-A8O6-01	TCGA-ED-A8O6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	29	0	ENST00000246070.2:c.*115G>T			ENST00000246070	NM_012261.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13106.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGGCCTGG	NONE	.	.	.	.	.	ENSP00000246070	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000246070	Transcript	.	.	ENSG00000125869	16097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LAMP5_HUMAN	LAMP5	HGNC	.	.	UPI0000128675	SNV	LAMP5,3_prime_UTR_variant,,ENST00000246070,;LAMP5,downstream_gene_variant,,ENST00000427562,;	1450	29	23	SUCCESS
KRAS	3845	.	GRCh37	12	25362794	25362794	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	86	46	99	0	ENST00000256078.4:c.*56G>A			ENST00000256078	NM_033360.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8703.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTCTTTAT	NONE	.	.	.	.	.	ENSP00000256078	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000256078	Transcript	.	.	ENSG00000133703	6407	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RASK_HUMAN	KRAS	HGNC	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN	.	UPI0000133132	SNV	KRAS,missense_variant,p.Glu168Lys,ENST00000311936,;KRAS,missense_variant,p.Glu55Lys,ENST00000557334,;KRAS,3_prime_UTR_variant,,ENST00000256078,;LYRM5,downstream_gene_variant,,ENST00000553788,;LYRM5,downstream_gene_variant,,ENST00000557540,;LYRM5,downstream_gene_variant,,ENST00000556885,;LYRM5,downstream_gene_variant,,ENST00000381356,;	690	99	132	SUCCESS
TRIM13	10206	.	GRCh37	13	50589204	50589204	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	38	0	ENST00000378182.3:c.*1904C>T			ENST00000378182	NM_213590.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41888.1	.	MUTECT|MUSE	.	CCCTCCCAGTA	NONE	.	1888	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,3_prime_UTR_variant,,ENST00000378182,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,downstream_gene_variant,,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,;KCNRG,upstream_gene_variant,,ENST00000312942,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	38	38	SUCCESS
SOCS1	8651	.	GRCh37	16	11348559	11348559	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	5	33	0	ENST00000332029.2:c.*141C>T			ENST00000332029	NM_003745.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10546.1	.	MUTECT|MUSE	.	CAGCCGAGGGC	NONE	.	.	.	.	.	ENSP00000329418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332029	Transcript	.	.	ENSG00000185338	19383	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOCS1_HUMAN	SOCS1	HGNC	Q4JHT5_HUMAN	.	UPI0000033166	SNV	SOCS1,3_prime_UTR_variant,,ENST00000332029,;RMI2,intron_variant,,ENST00000572173,;RMI2,intron_variant,,ENST00000573910,;	928	33	67	SUCCESS
PNMAL1	0	.	GRCh37	19	46971595	46971595	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	15	0	ENST00000313683.10:c.*223G>T			ENST00000313683	NM_018215.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33059.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGCGGTGA	NONE	.	.	.	.	.	ENSP00000318131	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,3_prime_UTR_variant,,ENST00000438932,;PNMAL1,3_prime_UTR_variant,,ENST00000313683,;PNMAL1,downstream_gene_variant,,ENST00000602246,;	1849	15	20	SUCCESS
C1orf54	79630	.	GRCh37	1	150253252	150253252	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	11	45	0	ENST00000369099.3:c.*10G>A			ENST00000369099	NM_024579.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS948.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAAGAAGGC	NONE	.	.	.	.	.	ENSP00000358098	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369102	Transcript	.	.	ENSG00000118292	26258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA054_HUMAN	C1orf54	HGNC	.	.	UPI000007219A	SNV	C1orf54,missense_variant,p.Glu103Lys,ENST00000369098,;C1orf54,3_prime_UTR_variant,,ENST00000369099,;C1orf54,3_prime_UTR_variant,,ENST00000369102,;C1orf51,upstream_gene_variant,,ENST00000369094,;C1orf51,upstream_gene_variant,,ENST00000369095,;C1orf51,upstream_gene_variant,,ENST00000290363,;C1orf51,upstream_gene_variant,,ENST00000417398,;C1orf51,upstream_gene_variant,,ENST00000447007,;C1orf51,upstream_gene_variant,,ENST00000469255,;C1orf51,upstream_gene_variant,,ENST00000497211,;	1176	45	58	SUCCESS
SKIL	6498	.	GRCh37	3	170110356	170110356	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	49	78	0	ENST00000259119.4:c.*151A>G			ENST00000259119				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33890.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATATTAGT	NONE	.	.	.	.	.	ENSP00000415243	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000458537	Transcript	.	.	ENSG00000136603	10897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKIL_HUMAN	SKIL	HGNC	C9J8R9_HUMAN	.	UPI000020A79D	SNV	SKIL,3_prime_UTR_variant,,ENST00000458537,;SKIL,3_prime_UTR_variant,,ENST00000259119,;SKIL,3_prime_UTR_variant,,ENST00000426052,;SKIL,downstream_gene_variant,,ENST00000413427,;SKIL,downstream_gene_variant,,ENST00000470571,;	2915	78	104	SUCCESS
SLC25A27	9481	.	GRCh37	6	46644681	46644681	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs192919671	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	12	0	ENST00000371347.5:c.*490G>A			ENST00000371347	NM_004277.4			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS43470.1	.	RADIA|MUTECT|MUSE	.	AAAGCGTACAT	NONE	by1000G	.	.	A:0.001	.	ENSP00000360398	A:0	9/9	.	.	.	.	.	.	.	.	rs192919671	9/9	PASS	ENST00000371347	Transcript	.	A:0.0002	ENSG00000153291	21065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	UCP4_HUMAN	SLC25A27	HGNC	B4DHR4_HUMAN	.	UPI0000038A00	SNV	SLC25A27,3_prime_UTR_variant,,ENST00000411689,;SLC25A27,3_prime_UTR_variant,,ENST00000604616,;SLC25A27,3_prime_UTR_variant,,ENST00000371347,;SLC25A27,downstream_gene_variant,,ENST00000452689,;RP11-446F17.3,intron_variant,,ENST00000571590,;RP11-446F17.3,intron_variant,,ENST00000422284,;RP11-446F17.3,intron_variant,,ENST00000434329,;SLC25A27,intron_variant,,ENST00000603501,;SLC25A27,intron_variant,,ENST00000604127,;	1714	12	13	SUCCESS
IBTK	25998	.	GRCh37	6	82881038	82881038	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ED-A97K-01	TCGA-ED-A97K-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	40	24	62	0	ENST00000306270.7:c.*104G>T			ENST00000306270	NM_015525.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAATCTATTT	NONE	.	.	.	.	.	ENSP00000305721	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000306270	Transcript	.	.	ENSG00000005700	17853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IBTK_HUMAN	IBTK	HGNC	.	.	UPI000041929F	SNV	IBTK,3_prime_UTR_variant,,ENST00000306270,;IBTK,downstream_gene_variant,,ENST00000510291,;IBTK,downstream_gene_variant,,ENST00000503631,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000508381,;IBTK,downstream_gene_variant,,ENST00000471036,;	4716	62	64	SUCCESS
TMTC3	160418	.	GRCh37	12	88589455	88589455	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	38	92	0	ENST00000266712.6:c.*29A>G			ENST00000266712	NM_181783.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATCAAAGAA	NONE	.	.	.	.	.	ENSP00000266712	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000266712	Transcript	.	.	ENSG00000139324	26899	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMTC3_HUMAN	TMTC3	HGNC	F8W044_HUMAN	.	UPI000004D255	SNV	TMTC3,3_prime_UTR_variant,,ENST00000266712,;	2994	92	119	SUCCESS
MEIOB	254528	.	GRCh37	16	1884017	1884017	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	9	0	ENST00000397344.3:c.*240A>T			ENST00000397344	NM_152764.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53983.1	.	MUTECT|MUSE	.	TCATGTAAACA	NONE	.	.	.	.	.	ENSP00000390778	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000412554	Transcript	.	.	ENSG00000162039	28569	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MEIOB_HUMAN	MEIOB	HGNC	H3BU10_HUMAN,H3BSU6_HUMAN	.	UPI000198C771	SNV	MEIOB,3_prime_UTR_variant,,ENST00000397344,;MEIOB,3_prime_UTR_variant,,ENST00000325962,;MEIOB,3_prime_UTR_variant,,ENST00000412554,;MEIOB,3_prime_UTR_variant,,ENST00000470044,;MEIOB,3_prime_UTR_variant,,ENST00000452149,;FAHD1,intron_variant,,ENST00000382666,;FAHD1,intron_variant,,ENST00000382668,;MEIOB,downstream_gene_variant,,ENST00000490154,;	1851	9	10	SUCCESS
SPAG9	9043	.	GRCh37	17	49043568	49043568	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	26	51	0	ENST00000262013.7:c.*65C>G			ENST00000262013	NM_001130528.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45740.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAAGGATAG	NONE	.	.	.	.	.	ENSP00000262013	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000262013	Transcript	.	.	ENSG00000008294	14524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	SNV	SPAG9,3_prime_UTR_variant,,ENST00000510283,;SPAG9,3_prime_UTR_variant,,ENST00000505279,;SPAG9,3_prime_UTR_variant,,ENST00000357122,;SPAG9,3_prime_UTR_variant,,ENST00000262013,;SPAG9,upstream_gene_variant,,ENST00000509724,;SPAG9,downstream_gene_variant,,ENST00000506500,;	4240	51	62	SUCCESS
CETN1	1068	.	GRCh37	18	581428	581428	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs562806094	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	104	217	0	ENST00000327228.3:c.*501C>T			ENST00000327228	NM_004066.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11820.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTACGGAGC	NONE	.	.	.	.	.	ENSP00000319052	.	1/1	.	.	.	.	.	.	.	.	rs562806094	1/1	PASS	ENST00000327228	Transcript	.	.	ENSG00000177143	1866	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CETN1_HUMAN	CETN1	HGNC	.	.	UPI0000127517	SNV	CETN1,3_prime_UTR_variant,,ENST00000327228,;	1062	217	260	SUCCESS
RTN2	6253	.	GRCh37	19	45988879	45988879	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	14	28	0	ENST00000245923.4:c.*87C>T			ENST00000245923	NM_005619.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12665.1	.	MUTECT|MUSE	.	GGAGGGGGGTG	NONE	.	.	.	.	.	ENSP00000245923	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000245923	Transcript	1	.	ENSG00000125744	10468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RTN2_HUMAN	RTN2	HGNC	K7EMR7_HUMAN	.	UPI00001352DC	SNV	RTN2,3_prime_UTR_variant,,ENST00000590526,;RTN2,3_prime_UTR_variant,,ENST00000344680,;RTN2,3_prime_UTR_variant,,ENST00000430715,;RTN2,3_prime_UTR_variant,,ENST00000245923,;PPM1N,upstream_gene_variant,,ENST00000401705,;RTN2,downstream_gene_variant,,ENST00000588036,;RTN2,downstream_gene_variant,,ENST00000590746,;RTN2,3_prime_UTR_variant,,ENST00000587597,;RTN2,3_prime_UTR_variant,,ENST00000591286,;RTN2,downstream_gene_variant,,ENST00000593129,;RTN2,downstream_gene_variant,,ENST00000591789,;RTN2,downstream_gene_variant,,ENST00000589628,;RTN2,downstream_gene_variant,,ENST00000593187,;	1961	28	31	SUCCESS
NCR3	259197	.	GRCh37	6	31556795	31556795	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	15	37	0	ENST00000340027.5:c.*49G>T			ENST00000340027	NM_147130.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34397.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTGCCAAGG	NONE	.	.	.	.	.	ENSP00000342156	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000340027	Transcript	.	.	ENSG00000204475	19077	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCTR3_HUMAN	NCR3	HGNC	.	.	UPI0000073DEE	SNV	NCR3,3_prime_UTR_variant,,ENST00000340027,;NCR3,3_prime_UTR_variant,,ENST00000376073,;LST1,downstream_gene_variant,,ENST00000376111,;LST1,downstream_gene_variant,,ENST00000376099,;LST1,downstream_gene_variant,,ENST00000376102,;LST1,downstream_gene_variant,,ENST00000339530,;LST1,downstream_gene_variant,,ENST00000376110,;NCR3,downstream_gene_variant,,ENST00000376071,;LST1,downstream_gene_variant,,ENST00000376086,;LST1,downstream_gene_variant,,ENST00000376100,;LST1,downstream_gene_variant,,ENST00000433492,;LST1,downstream_gene_variant,,ENST00000464044,;LST1,downstream_gene_variant,,ENST00000438075,;LST1,downstream_gene_variant,,ENST00000376090,;LST1,downstream_gene_variant,,ENST00000396101,;LST1,downstream_gene_variant,,ENST00000376092,;NCR3,downstream_gene_variant,,ENST00000376072,;LST1,downstream_gene_variant,,ENST00000303757,;LST1,downstream_gene_variant,,ENST00000376093,;LST1,downstream_gene_variant,,ENST00000376089,;LST1,downstream_gene_variant,,ENST00000418507,;LST1,downstream_gene_variant,,ENST00000376096,;LST1,downstream_gene_variant,,ENST00000396112,;LST1,downstream_gene_variant,,ENST00000490742,;LST1,downstream_gene_variant,,ENST00000211921,;NCR3,non_coding_transcript_exon_variant,,ENST00000491161,;NCR3,non_coding_transcript_exon_variant,,ENST00000495600,;LST1,downstream_gene_variant,,ENST00000419073,;LST1,downstream_gene_variant,,ENST00000464526,;LST1,downstream_gene_variant,,ENST00000460834,;	919	37	32	SUCCESS
ZNF623	9831	.	GRCh37	8	144734784	144734784	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-EP-A12J-01	TCGA-EP-A12J-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	378	342	0	ENST00000501748.2:c.*1131G>T			ENST00000501748	NM_014789.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34957.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGTCTAC	NONE	.	.	.	.	.	ENSP00000445979	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000501748	Transcript	.	.	ENSG00000183309	29084	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN623_HUMAN	ZNF623	HGNC	.	.	UPI00001AF7CB	SNV	ZNF623,3_prime_UTR_variant,,ENST00000501748,;ZNF623,downstream_gene_variant,,ENST00000458270,;ZNF623,downstream_gene_variant,,ENST00000526926,;	2831	342	542	SUCCESS
LIPF	8513	.	GRCh37	10	90438467	90438467	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	10	0	ENST00000238983.4:c.*29T>G			ENST00000238983	NM_004190.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55718.1	.	MUTECT|MUSE	.	TTTGTTTTTCC	NONE	.	.	.	.	.	ENSP00000377900	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000394375	Transcript	.	.	ENSG00000182333	6622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPG_HUMAN	LIPF	HGNC	.	.	UPI0001E92A2A	SNV	LIPF,3_prime_UTR_variant,,ENST00000238983,;LIPF,3_prime_UTR_variant,,ENST00000355843,;LIPF,3_prime_UTR_variant,,ENST00000608620,;LIPF,3_prime_UTR_variant,,ENST00000394375,;LIPF,downstream_gene_variant,,ENST00000496797,;	1369	10	15	SUCCESS
DERA	51071	.	GRCh37	12	16189801	16189801	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	15	0	ENST00000428559.2:c.*121A>C			ENST00000428559	NM_015954.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44838.1	.	MUTECT|MUSE	.	CTTTAAAATTT	NONE	.	.	.	.	.	ENSP00000416583	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000428559	Transcript	.	.	ENSG00000023697	24269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEOC_HUMAN	DERA	HGNC	G3V158_HUMAN,E9PPK3_HUMAN	.	UPI00001291A2	SNV	DERA,3_prime_UTR_variant,,ENST00000428559,;DERA,3_prime_UTR_variant,,ENST00000526530,;DERA,downstream_gene_variant,,ENST00000531803,;DERA,downstream_gene_variant,,ENST00000532964,;DERA,downstream_gene_variant,,ENST00000533447,;DERA,downstream_gene_variant,,ENST00000532573,;DERA,downstream_gene_variant,,ENST00000530274,;DERA,downstream_gene_variant,,ENST00000528821,;DERA,downstream_gene_variant,,ENST00000526521,;	1290	15	17	SUCCESS
ZNF708	7562	.	GRCh37	19	21475947	21475947	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	19	0	ENST00000356929.3:c.*129A>T			ENST00000356929	NM_021269.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32980.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTATCTTTTGT	NONE	.	.	.	.	.	ENSP00000349401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,3_prime_UTR_variant,,ENST00000356929,;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;	2019	19	18	SUCCESS
FAM46C	0	.	GRCh37	1	118166739	118166739	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs542844836	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	50	0	ENST00000369448.3:c.*73T>A			ENST00000369448	NM_017709.3			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS896.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTCTAGATG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000358458	C:0.001	2/2	.	.	.	.	.	.	.	.	rs542844836	2/2	PASS	ENST00000369448	Transcript	.	C:0.0004	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	1496	50	44	SUCCESS
KRTAP12-2	353323	.	GRCh37	21	46086223	46086223	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	21	0	ENST00000360770.3:c.*140A>G			ENST00000360770	NM_181684.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42965.1	.	RADIA|VARSCANS	.	CACATTCTCAA	NONE	.	.	.	.	.	ENSP00000354001	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000360770	Transcript	.	.	ENSG00000221864	20530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR122_HUMAN	KRTAP12-2	HGNC	.	.	UPI00001A95BA	SNV	KRTAP12-2,3_prime_UTR_variant,,ENST00000360770,;TSPEAR,intron_variant,,ENST00000323084,;	622	21	32	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131673441	131673441	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs561699746	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	40	0				ENST00000326016	NM_015320.3			0	.	G:0	.	G:0	.	C	.	protein_coding	YES	CCDS2165.1	.	RADIA|VARSCANS	.	AGGTCTTCAGG	NONE	by1000G	783	.	G:0	.	ENSP00000316845	G:0.001	.	.	.	.	.	.	.	.	.	rs561699746	.	PASS	ENST00000326016	Transcript	.	G:0.0002	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Leu311Pro,ENST00000409359,;ARHGEF4,upstream_gene_variant,,ENST00000392953,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	.	40	37	SUCCESS
DNAJC5G	285126	.	GRCh37	2	27498130	27498130	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	41	0				ENST00000296097	NM_173650.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1744.1	.	RADIA|VARSCANS	.	GGGGAAGAGGG	NONE	.	159	.	.	.	ENSP00000296097	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296097	Transcript	.	.	ENSG00000163793	24844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJ5G_HUMAN	DNAJC5G	HGNC	.	.	UPI0000070AD2	SNV	SLC30A3,5_prime_UTR_variant,,ENST00000424577,;SLC30A3,5_prime_UTR_variant,,ENST00000447008,;SLC30A3,5_prime_UTR_variant,,ENST00000426569,;SLC30A3,intron_variant,,ENST00000426924,;DNAJC5G,upstream_gene_variant,,ENST00000404433,;DNAJC5G,upstream_gene_variant,,ENST00000420191,;DNAJC5G,upstream_gene_variant,,ENST00000296097,;DNAJC5G,upstream_gene_variant,,ENST00000402462,;DNAJC5G,upstream_gene_variant,,ENST00000406962,;DNAJC5G,upstream_gene_variant,,ENST00000460358,;	.	41	34	SUCCESS
PHF1	5252	.	GRCh37	6	33385851	33385851	+	downstream_gene_variant	3'Flank	SNP	G	G	C	rs528983416	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	50	0				ENST00000374516	NM_024165.2			0	.	A:0.0008	.	A:0	.	C	.	protein_coding	YES	CCDS34432.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCGGCCTC	NONE	by1000G	.	.	A:0	.	ENSP00000363624	A:0	.	.	.	.	.	.	.	.	.	rs528983416	.	PASS	ENST00000374500	Transcript	.	A:0.0002	ENSG00000112514	21101	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CUTA_HUMAN	CUTA	HGNC	.	.	UPI00004709FA	SNV	CUTA,5_prime_UTR_variant,,ENST00000488034,;CUTA,5_prime_UTR_variant,,ENST00000488478,;CUTA,intron_variant,,ENST00000374500,;CUTA,upstream_gene_variant,,ENST00000607266,;CUTA,upstream_gene_variant,,ENST00000494751,;PHF1,downstream_gene_variant,,ENST00000374516,;SYNGAP1,upstream_gene_variant,,ENST00000418600,;SYNGAP1,upstream_gene_variant,,ENST00000293748,;PHF1,downstream_gene_variant,,ENST00000427826,;PHF1,downstream_gene_variant,,ENST00000427004,;PHF1,downstream_gene_variant,,ENST00000374512,;CUTA,upstream_gene_variant,,ENST00000374496,;CUTA,upstream_gene_variant,,ENST00000440279,;PHF1,downstream_gene_variant,,ENST00000428274,;SYNGAP1,upstream_gene_variant,,ENST00000449372,;CUTA,intron_variant,,ENST00000492510,;SYNGAP1,upstream_gene_variant,,ENST00000496374,;CUTA,5_prime_UTR_variant,,ENST00000482684,;CUTA,non_coding_transcript_exon_variant,,ENST00000487637,;CUTA,intron_variant,,ENST00000374484,;PHF1,downstream_gene_variant,,ENST00000479029,;CUTA,upstream_gene_variant,,ENST00000462802,;CUTA,upstream_gene_variant,,ENST00000465956,;CUTA,upstream_gene_variant,,ENST00000479249,;PHF1,downstream_gene_variant,,ENST00000487667,;PHF1,downstream_gene_variant,,ENST00000488767,;PHF1,downstream_gene_variant,,ENST00000495509,;SYNGAP1,upstream_gene_variant,,ENST00000479510,;PHF1,downstream_gene_variant,,ENST00000486845,;	.	50	20	SUCCESS
BMP5	653	.	GRCh37	6	55620323	55620323	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	36	125	0	ENST00000370830.3:c.*8T>C			ENST00000370830	NM_021073.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4958.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATATTATTTAA	NONE	.	.	.	.	.	ENSP00000359866	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,3_prime_UTR_variant,,ENST00000370830,;BMP5,3_prime_UTR_variant,,ENST00000446683,;	2072	125	112	SUCCESS
FUT9	10690	.	GRCh37	6	96657764	96657764	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	12	55	0	ENST00000302103.5:c.*5653C>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCCCCGTCAC	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	7059	55	49	SUCCESS
LIPF	8513	.	GRCh37	10	90438467	90438467	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	10	0	ENST00000238983.4:c.*29T>G			ENST00000238983	NM_004190.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55718.1	.	MUTECT|MUSE	.	TTTGTTTTTCC	NONE	.	.	.	.	.	ENSP00000377900	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000394375	Transcript	.	.	ENSG00000182333	6622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPG_HUMAN	LIPF	HGNC	.	.	UPI0001E92A2A	SNV	LIPF,3_prime_UTR_variant,,ENST00000238983,;LIPF,3_prime_UTR_variant,,ENST00000355843,;LIPF,3_prime_UTR_variant,,ENST00000608620,;LIPF,3_prime_UTR_variant,,ENST00000394375,;LIPF,downstream_gene_variant,,ENST00000496797,;	1369	10	15	SUCCESS
DERA	51071	.	GRCh37	12	16189801	16189801	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	13	0	ENST00000428559.2:c.*121A>C			ENST00000428559	NM_015954.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44838.1	.	MUTECT|MUSE	.	CTTTAAAATTT	NONE	.	.	.	.	.	ENSP00000416583	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000428559	Transcript	.	.	ENSG00000023697	24269	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEOC_HUMAN	DERA	HGNC	G3V158_HUMAN,E9PPK3_HUMAN	.	UPI00001291A2	SNV	DERA,3_prime_UTR_variant,,ENST00000428559,;DERA,3_prime_UTR_variant,,ENST00000526530,;DERA,downstream_gene_variant,,ENST00000531803,;DERA,downstream_gene_variant,,ENST00000532964,;DERA,downstream_gene_variant,,ENST00000533447,;DERA,downstream_gene_variant,,ENST00000532573,;DERA,downstream_gene_variant,,ENST00000530274,;DERA,downstream_gene_variant,,ENST00000528821,;DERA,downstream_gene_variant,,ENST00000526521,;	1290	13	17	SUCCESS
ZNF708	7562	.	GRCh37	19	21475947	21475947	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	19	0	ENST00000356929.3:c.*129A>T			ENST00000356929	NM_021269.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32980.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTTTTGT	NONE	.	.	.	.	.	ENSP00000349401	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000356929	Transcript	.	.	ENSG00000182141	12945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN708_HUMAN	ZNF708	HGNC	M0R1G3_HUMAN,M0QYN4_HUMAN	.	UPI000041F9DE	SNV	ZNF708,3_prime_UTR_variant,,ENST00000356929,;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;	2019	19	18	SUCCESS
FAM46C	0	.	GRCh37	1	118166739	118166739	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs542844836	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	20	41	0	ENST00000369448.3:c.*73T>A			ENST00000369448	NM_017709.3			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS896.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTCTAGATG	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000358458	C:0.001	2/2	.	.	.	.	.	.	.	.	rs542844836	2/2	nonpreferredpair	ENST00000369448	Transcript	.	C:0.0004	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	1496	41	44	SUCCESS
KRTAP12-2	353323	.	GRCh37	21	46086223	46086223	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	16	0	ENST00000360770.3:c.*140A>G			ENST00000360770	NM_181684.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42965.1	.	RADIA|VARSCANS	.	CACATTCTCAA	NONE	.	.	.	.	.	ENSP00000354001	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000360770	Transcript	.	.	ENSG00000221864	20530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KR122_HUMAN	KRTAP12-2	HGNC	.	.	UPI00001A95BA	SNV	KRTAP12-2,3_prime_UTR_variant,,ENST00000360770,;TSPEAR,intron_variant,,ENST00000323084,;	622	16	32	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131673441	131673441	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs561699746	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	4	42	0				ENST00000326016	NM_015320.3			0	.	G:0	.	G:0	.	C	.	protein_coding	YES	CCDS2165.1	.	RADIA|VARSCANS	.	AGGTCTTCAGG	NONE	by1000G	783	.	G:0	.	ENSP00000316845	G:0.001	.	.	.	.	.	.	.	.	.	rs561699746	.	nonpreferredpair	ENST00000326016	Transcript	.	G:0.0002	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Leu311Pro,ENST00000409359,;ARHGEF4,upstream_gene_variant,,ENST00000392953,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	.	42	37	SUCCESS
DNAJC5G	285126	.	GRCh37	2	27498130	27498130	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	38	0				ENST00000296097	NM_173650.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1744.1	.	RADIA|VARSCANS	.	GGGGAAGAGGG	NONE	.	159	.	.	.	ENSP00000296097	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000296097	Transcript	.	.	ENSG00000163793	24844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJ5G_HUMAN	DNAJC5G	HGNC	.	.	UPI0000070AD2	SNV	SLC30A3,5_prime_UTR_variant,,ENST00000424577,;SLC30A3,5_prime_UTR_variant,,ENST00000447008,;SLC30A3,5_prime_UTR_variant,,ENST00000426569,;SLC30A3,intron_variant,,ENST00000426924,;DNAJC5G,upstream_gene_variant,,ENST00000404433,;DNAJC5G,upstream_gene_variant,,ENST00000420191,;DNAJC5G,upstream_gene_variant,,ENST00000296097,;DNAJC5G,upstream_gene_variant,,ENST00000402462,;DNAJC5G,upstream_gene_variant,,ENST00000406962,;DNAJC5G,upstream_gene_variant,,ENST00000460358,;	.	38	34	SUCCESS
PHF1	5252	.	GRCh37	6	33385851	33385851	+	downstream_gene_variant	3'Flank	SNP	G	G	C	rs528983416	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	38	0				ENST00000374516	NM_024165.2			0	.	A:0.0008	.	A:0	.	C	.	protein_coding	YES	CCDS34432.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCGGCCTC	NONE	by1000G	.	.	A:0	.	ENSP00000363624	A:0	.	.	.	.	.	.	.	.	.	rs528983416	.	nonpreferredpair	ENST00000374500	Transcript	.	A:0.0002	ENSG00000112514	21101	.	.	MODIFIER	1/5	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	CUTA_HUMAN	CUTA	HGNC	.	.	UPI00004709FA	SNV	CUTA,5_prime_UTR_variant,,ENST00000488034,;CUTA,5_prime_UTR_variant,,ENST00000488478,;CUTA,intron_variant,,ENST00000374500,;CUTA,upstream_gene_variant,,ENST00000607266,;CUTA,upstream_gene_variant,,ENST00000494751,;PHF1,downstream_gene_variant,,ENST00000374516,;SYNGAP1,upstream_gene_variant,,ENST00000418600,;SYNGAP1,upstream_gene_variant,,ENST00000293748,;PHF1,downstream_gene_variant,,ENST00000427826,;PHF1,downstream_gene_variant,,ENST00000427004,;PHF1,downstream_gene_variant,,ENST00000374512,;CUTA,upstream_gene_variant,,ENST00000374496,;CUTA,upstream_gene_variant,,ENST00000440279,;PHF1,downstream_gene_variant,,ENST00000428274,;SYNGAP1,upstream_gene_variant,,ENST00000449372,;CUTA,intron_variant,,ENST00000492510,;SYNGAP1,upstream_gene_variant,,ENST00000496374,;CUTA,5_prime_UTR_variant,,ENST00000482684,;CUTA,non_coding_transcript_exon_variant,,ENST00000487637,;CUTA,intron_variant,,ENST00000374484,;PHF1,downstream_gene_variant,,ENST00000479029,;CUTA,upstream_gene_variant,,ENST00000462802,;CUTA,upstream_gene_variant,,ENST00000465956,;CUTA,upstream_gene_variant,,ENST00000479249,;PHF1,downstream_gene_variant,,ENST00000487667,;PHF1,downstream_gene_variant,,ENST00000488767,;PHF1,downstream_gene_variant,,ENST00000495509,;SYNGAP1,upstream_gene_variant,,ENST00000479510,;PHF1,downstream_gene_variant,,ENST00000486845,;	.	38	20	SUCCESS
BMP5	653	.	GRCh37	6	55620323	55620323	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	36	105	0	ENST00000370830.3:c.*8T>C			ENST00000370830	NM_021073.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4958.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTATTTAA	NONE	.	.	.	.	.	ENSP00000359866	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000370830	Transcript	.	.	ENSG00000112175	1072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BMP5_HUMAN	BMP5	HGNC	M9VUD0_HUMAN	.	UPI0000126A2C	SNV	BMP5,3_prime_UTR_variant,,ENST00000370830,;BMP5,3_prime_UTR_variant,,ENST00000446683,;	2072	105	112	SUCCESS
FUT9	10690	.	GRCh37	6	96657764	96657764	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A26S-01	TCGA-EP-A26S-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	12	23	1	ENST00000302103.5:c.*5653C>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|VARSCANS	.	CCCCCCGTCAC	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	7059	24	50	SUCCESS
C11orf87	399947	.	GRCh37	11	109296307	109296307	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs561719013	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	28	137	0	ENST00000327419.6:c.*1354T>C			ENST00000327419	NM_207645.3			0	.	C:0.0008	.	C:0	.	C	.	protein_coding	YES	CCDS31672.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTATAAAAA	NONE	by1000G	.	.	C:0	.	ENSP00000331581	C:0	2/2	.	.	.	.	.	.	.	.	rs561719013	2/2	PASS	ENST00000327419	Transcript	.	C:0.0002	ENSG00000185742	33788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	CK087_HUMAN	C11orf87	HGNC	.	.	UPI000013E5BC	SNV	C11orf87,3_prime_UTR_variant,,ENST00000327419,;RP11-708B6.2,intron_variant,,ENST00000532929,;RP11-708B6.2,intron_variant,,ENST00000532992,;	2351	137	90	SUCCESS
USP30	84749	.	GRCh37	12	109523796	109523796	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	19	28	0	ENST00000257548.5:c.*60A>C			ENST00000257548	NM_032663.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9123.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTAAAACT	NONE	.	.	.	.	.	ENSP00000257548	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000257548	Transcript	.	.	ENSG00000135093	20065	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP30_HUMAN	USP30	HGNC	S4R3D1_HUMAN,F5H8D3_HUMAN,B3KUS5_HUMAN	.	UPI0000037724	SNV	USP30,3_prime_UTR_variant,,ENST00000392784,;USP30,3_prime_UTR_variant,,ENST00000257548,;ALKBH2,downstream_gene_variant,,ENST00000440112,;ALKBH2,downstream_gene_variant,,ENST00000429722,;ALKBH2,downstream_gene_variant,,ENST00000543444,;ALKBH2,downstream_gene_variant,,ENST00000536358,;ALKBH2,downstream_gene_variant,,ENST00000536242,;ALKBH2,downstream_gene_variant,,ENST00000343075,;USP30,3_prime_UTR_variant,,ENST00000470117,;USP30,non_coding_transcript_exon_variant,,ENST00000479219,;USP30,downstream_gene_variant,,ENST00000377883,;USP30,downstream_gene_variant,,ENST00000467307,;USP30,downstream_gene_variant,,ENST00000491362,;	1707	28	30	SUCCESS
KCNJ12	3768	.	GRCh37	17	21320718	21320718	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	132	34	248	0				ENST00000331718	NM_001194958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11219.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTGAGCTT	NONE	.	.	.	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,3_prime_UTR_variant,,ENST00000583088,;KCNJ12,downstream_gene_variant,,ENST00000331718,;	2959	248	166	SUCCESS
CCDC61	729440	.	GRCh37	19	46498359	46498359	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	9	76	0				ENST00000595358	NM_001267723.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46120.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGGCTCTCCCT	BUFFER|p.T5T|c.15C>G|4	.	366	.	.	.	ENSP00000471454	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000595358	Transcript	.	.	ENSG00000104983	33629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CCDC61	HGNC	M0R0U9_HUMAN,M0QYL5_HUMAN,M0QY15_HUMAN	.	UPI000040C0FF	SNV	CCDC61,synonymous_variant,p.%3D,ENST00000263284,;CCDC61,upstream_gene_variant,,ENST00000536603,;CCDC61,upstream_gene_variant,,ENST00000594672,;CCDC61,upstream_gene_variant,,ENST00000595358,;CCDC61,upstream_gene_variant,,ENST00000596687,;CCDC61,upstream_gene_variant,,ENST00000596161,;	.	76	51	SUCCESS
ZNF611	81856	.	GRCh37	19	53208076	53208076	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	48	0	ENST00000319783.1:c.*114T>C			ENST00000319783	NM_030972.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12855.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATCACTCCC	NONE	.	.	.	.	.	ENSP00000437616	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000543227	Transcript	.	.	ENSG00000213020	28766	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN611_HUMAN	ZNF611	HGNC	M0QYR0_HUMAN	.	UPI00001406C1	SNV	ZNF611,3_prime_UTR_variant,,ENST00000453741,;ZNF611,3_prime_UTR_variant,,ENST00000543227,;ZNF611,3_prime_UTR_variant,,ENST00000319783,;ZNF611,3_prime_UTR_variant,,ENST00000595798,;ZNF611,3_prime_UTR_variant,,ENST00000602162,;ZNF611,3_prime_UTR_variant,,ENST00000540744,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	2507	48	45	SUCCESS
HPCAL4	51440	.	GRCh37	1	40148167	40148167	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	52	0	ENST00000372844.3:c.*41G>T			ENST00000372844	NM_016257.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS441.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCATGC	NONE	.	.	.	.	.	ENSP00000361935	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372844	Transcript	.	.	ENSG00000116983	18212	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPCL4_HUMAN	HPCAL4	HGNC	B4DG51_HUMAN	.	UPI0000073F20	SNV	HPCAL4,3_prime_UTR_variant,,ENST00000372844,;	1009	52	30	SUCCESS
ROMO1	140823	.	GRCh37	20	34288878	34288878	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1429480088	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	14	62	0	ENST00000336695.4:c.*50A>G			ENST00000336695				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13264.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGTACTAAT	NONE	.	.	.	.	.	ENSP00000363191	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000374078	Transcript	.	.	ENSG00000125995	16185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ROMO1_HUMAN	ROMO1	HGNC	.	.	UPI0000024489	SNV	ROMO1,3_prime_UTR_variant,,ENST00000374078,;ROMO1,3_prime_UTR_variant,,ENST00000336695,;ROMO1,3_prime_UTR_variant,,ENST00000374077,;ROMO1,3_prime_UTR_variant,,ENST00000374072,;RBM39,downstream_gene_variant,,ENST00000528062,;RBM39,downstream_gene_variant,,ENST00000361162,;NFS1,upstream_gene_variant,,ENST00000540053,;ROMO1,downstream_gene_variant,,ENST00000397416,;RBM39,downstream_gene_variant,,ENST00000448303,;NFS1,upstream_gene_variant,,ENST00000541387,;RBM39,downstream_gene_variant,,ENST00000253363,;NFS1,upstream_gene_variant,,ENST00000374092,;NFS1,upstream_gene_variant,,ENST00000397425,;NFS1,upstream_gene_variant,,ENST00000374085,;NFS1,upstream_gene_variant,,ENST00000306750,;NFS1,upstream_gene_variant,,ENST00000419569,;RBM39,downstream_gene_variant,,ENST00000407261,;RBM39,downstream_gene_variant,,ENST00000476806,;RBM39,downstream_gene_variant,,ENST00000495293,;RBM39,downstream_gene_variant,,ENST00000496183,;RBM39,downstream_gene_variant,,ENST00000470563,;NFS1,upstream_gene_variant,,ENST00000421540,;RBM39,downstream_gene_variant,,ENST00000490354,;RBM39,downstream_gene_variant,,ENST00000461283,;RBM39,downstream_gene_variant,,ENST00000482563,;RBM39,downstream_gene_variant,,ENST00000492779,;RBM39,downstream_gene_variant,,ENST00000444878,;RBM39,downstream_gene_variant,,ENST00000338163,;NFS1,upstream_gene_variant,,ENST00000413203,;NFS1,upstream_gene_variant,,ENST00000440385,;RBM39,downstream_gene_variant,,ENST00000463004,;RBM39,downstream_gene_variant,,ENST00000429968,;RBM39,downstream_gene_variant,,ENST00000403542,;NFS1,upstream_gene_variant,,ENST00000456462,;RBM39,downstream_gene_variant,,ENST00000465158,;	470	62	63	SUCCESS
T	0	.	GRCh37	6	166571721	166571721	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1023539502	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	59	0	ENST00000296946.2:c.*82C>A			ENST00000296946	NM_003181.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5290.1	.	RADIA|VARSCANS	.	CACTGGGTACC	NONE	.	.	.	.	.	ENSP00000296946	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000296946	Transcript	.	.	ENSG00000164458	11515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BRAC_HUMAN	T	HGNC	H0YM91_HUMAN	.	UPI0000126AB5	SNV	T,3_prime_UTR_variant,,ENST00000366871,;T,3_prime_UTR_variant,,ENST00000296946,;T,downstream_gene_variant,,ENST00000366876,;	1859	59	34	SUCCESS
GTF3C5	9328	.	GRCh37	9	135933383	135933383	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-EP-A2KA-01	TCGA-EP-A2KA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	109	70	261	0	ENST00000372097.5:c.*16G>C			ENST00000372097	NM_012087.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS48050.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTGGGCCTC	NONE	.	.	.	.	.	ENSP00000361180	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000372108	Transcript	.	.	ENSG00000148308	4668	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TF3C5_HUMAN	GTF3C5	HGNC	Q5T7U0_HUMAN	.	UPI000046FE5A	SNV	GTF3C5,3_prime_UTR_variant,,ENST00000372099,;GTF3C5,3_prime_UTR_variant,,ENST00000342018,;GTF3C5,3_prime_UTR_variant,,ENST00000372108,;GTF3C5,3_prime_UTR_variant,,ENST00000372097,;GTF3C5,downstream_gene_variant,,ENST00000435745,;CEL,upstream_gene_variant,,ENST00000351304,;GTF3C5,downstream_gene_variant,,ENST00000439697,;CEL,upstream_gene_variant,,ENST00000372080,;GTF3C5,downstream_gene_variant,,ENST00000372095,;GTF3C5,non_coding_transcript_exon_variant,,ENST00000489842,;GTF3C5,downstream_gene_variant,,ENST00000461871,;	1605	261	179	SUCCESS
SFTPA2	729238	.	GRCh37	10	81315803	81315803	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	12	0	ENST00000372325.2:c.*1162C>T			ENST00000372325	NM_001098668.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41540.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTGGGTAAA	NONE	.	.	.	.	.	ENSP00000361400	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372325	Transcript	1	.	ENSG00000185303	10799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SFPA2_HUMAN	SFTPA2	HGNC	R4GMN3_HUMAN,B7Z4Y4_HUMAN	.	UPI000013CAFF	SNV	SFTPA2,3_prime_UTR_variant,,ENST00000372325,;SFTPA2,downstream_gene_variant,,ENST00000492049,;SFTPA2,downstream_gene_variant,,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000417041,;	1994	12	22	SUCCESS
SLC2A14	144195	.	GRCh37	12	7966799	7966799	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs753866049	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	29	0	ENST00000396589.2:c.*113T>G			ENST00000396589	NM_153449.2			0	.	G:0.0023	.	G:0	.	C	.	protein_coding	YES	CCDS8585.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGAAATCA	NONE	by1000G	.	.	G:0	.	ENSP00000440480	G:0	16/16	.	.	.	.	.	.	.	.	rs753866049	16/16	PASS	ENST00000543909	Transcript	.	.	ENSG00000173262	18301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	GTR14_HUMAN	SLC2A14	HGNC	F5H6F6_HUMAN,F5GXP7_HUMAN	.	UPI000006D325	SNV	SLC2A14,3_prime_UTR_variant,,ENST00000535295,;SLC2A14,3_prime_UTR_variant,,ENST00000396589,;SLC2A14,3_prime_UTR_variant,,ENST00000431042,;SLC2A14,3_prime_UTR_variant,,ENST00000542546,;SLC2A14,3_prime_UTR_variant,,ENST00000542505,;SLC2A14,3_prime_UTR_variant,,ENST00000340749,;SLC2A14,3_prime_UTR_variant,,ENST00000539924,;SLC2A14,3_prime_UTR_variant,,ENST00000543909,;	2436	29	22	SUCCESS
WWOX	51741	.	GRCh37	16	79245707	79245707	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs375034238	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	15	48	0	ENST00000566780.1:c.*14C>T			ENST00000566780	NM_016373.2			0	T:0.0003	.	.	.	.	T	.	protein_coding	YES	CCDS42196.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGCGGATG	NONE	byFrequency|byCluster	.	.	.	T:0.0008	ENSP00000457230	.	9/9	.	.	.	.	.	.	.	.	rs375034238	9/9	PASS	ENST00000566780	Transcript	.	.	ENSG00000186153	12799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WWOX_HUMAN	WWOX	HGNC	.	.	UPI000004C797	SNV	WWOX,synonymous_variant,p.%3D,ENST00000402655,;WWOX,3_prime_UTR_variant,,ENST00000406884,;WWOX,3_prime_UTR_variant,,ENST00000539474,;WWOX,3_prime_UTR_variant,,ENST00000566780,;RP11-679B19.2,downstream_gene_variant,,ENST00000569677,;WWOX,non_coding_transcript_exon_variant,,ENST00000566103,;WWOX,3_prime_UTR_variant,,ENST00000569332,;	1625	48	19	SUCCESS
ARHGEF2	9181	.	GRCh37	1	155917728	155917728	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	101	23	76	0	ENST00000361247.4:c.*5del			ENST00000361247	NM_001162384.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS53376.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GAGGGGCCCCCT	NONE	.	.	.	.	.	ENSP00000354837	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000361247	Transcript	.	.	ENSG00000116584	682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARHG2_HUMAN	ARHGEF2	HGNC	.	.	UPI000045892C	deletion	ARHGEF2,3_prime_UTR_variant,,ENST00000361247,;ARHGEF2,3_prime_UTR_variant,,ENST00000368315,;ARHGEF2,3_prime_UTR_variant,,ENST00000313695,;ARHGEF2,3_prime_UTR_variant,,ENST00000368316,;ARHGEF2,3_prime_UTR_variant,,ENST00000462460,;ARHGEF2,3_prime_UTR_variant,,ENST00000470541,;ARHGEF2,downstream_gene_variant,,ENST00000313667,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000474428,;ARHGEF2,downstream_gene_variant,,ENST00000470975,;	3066	76	124	SUCCESS
CHST10	9486	.	GRCh37	2	101009574	101009574	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	12	0	ENST00000264249.3:c.*133A>C			ENST00000264249	NM_004854.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2047.1	.	MUTECT|MUSE	.	GCAACTCACAG	NONE	.	.	.	.	.	ENSP00000264249	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,3_prime_UTR_variant,,ENST00000264249,;CHST10,downstream_gene_variant,,ENST00000420858,;CHST10,downstream_gene_variant,,ENST00000448989,;CHST10,downstream_gene_variant,,ENST00000409046,;CHST10,downstream_gene_variant,,ENST00000542617,;CHST10,downstream_gene_variant,,ENST00000409701,;CHST10,downstream_gene_variant,,ENST00000421474,;CHST10,downstream_gene_variant,,ENST00000484382,;	1590	12	12	SUCCESS
HCLS1	3059	.	GRCh37	3	121350603	121350603	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	14	28	0	ENST00000314583.3:c.*90A>G			ENST00000314583	NM_005335.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3003.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTTAGAC	NONE	.	.	.	.	.	ENSP00000320176	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000314583	Transcript	.	.	ENSG00000180353	4844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HCLS1_HUMAN	HCLS1	HGNC	.	.	UPI000013F884	SNV	HCLS1,3_prime_UTR_variant,,ENST00000428394,;HCLS1,3_prime_UTR_variant,,ENST00000314583,;FBXO40,downstream_gene_variant,,ENST00000338040,;HCLS1,non_coding_transcript_exon_variant,,ENST00000473883,;HCLS1,downstream_gene_variant,,ENST00000495491,;	1643	28	19	SUCCESS
MCC	4163	.	GRCh37	5	112362996	112362996	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	290	195	422	0	ENST00000302475.4:c.*3A>G			ENST00000302475	NM_002387.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCTGATTA	NONE	.	3	.	.	.	ENSP00000386227	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000408903	Transcript	.	.	ENSG00000171444	6935	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRCM_HUMAN	MCC	HGNC	D6REY2_HUMAN	.	UPI00015E06EA	SNV	MCC,3_prime_UTR_variant,,ENST00000302475,;MCC,3_prime_UTR_variant,,ENST00000515367,;MCC,downstream_gene_variant,,ENST00000408903,;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;	.	422	486	SUCCESS
SLC17A4	10050	.	GRCh37	6	25779513	25779513	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	30	45	0	ENST00000377905.4:c.*97A>T			ENST00000377905	NM_005495.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4564.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATTAGCTAG	NONE	.	.	.	.	.	ENSP00000367137	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000377905	Transcript	.	.	ENSG00000146039	10932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S17A4_HUMAN	SLC17A4	HGNC	.	.	UPI0000073585	SNV	SLC17A4,3_prime_UTR_variant,,ENST00000397076,;SLC17A4,3_prime_UTR_variant,,ENST00000377905,;SLC17A4,3_prime_UTR_variant,,ENST00000439485,;SLC17A1,downstream_gene_variant,,ENST00000427328,;SLC17A1,downstream_gene_variant,,ENST00000244527,;SLC17A1,downstream_gene_variant,,ENST00000377886,;	1710	45	48	SUCCESS
HIST1H4F	0	.	GRCh37	6	26240967	26240967	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs180872870	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	23	43	0	ENST00000377745.2:c.*2C>A			ENST00000377745	NM_003540.3			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS4598.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGAGCCTCAC	NONE	byFrequency|byCluster|by1000G	.	.	T:0.002	.	ENSP00000366974	T:0	1/1	.	.	.	.	.	.	.	.	rs180872870	1/1	PASS	ENST00000377745	Transcript	.	T:0.0004	ENSG00000198327	4783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	H4_HUMAN	HIST1H4F	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4F,3_prime_UTR_variant,,ENST00000377745,;	407	43	52	SUCCESS
FUT9	10690	.	GRCh37	6	96662506	96662506	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs533590841	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	86	164	0	ENST00000302103.5:c.*10395G>C			ENST00000302103	NM_006581.3			0	.	C:0.0038	.	C:0	.	C	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTTGAAAGG	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000302599	C:0	3/3	.	.	.	.	.	.	.	.	rs533590841	3/3	PASS	ENST00000302103	Transcript	.	C:0.0010	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	11801	164	200	SUCCESS
SLC39A4	55630	.	GRCh37	8	145637832	145637832	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	50	0	ENST00000301305.3:c.*90G>T			ENST00000301305	NM_130849.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6424.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACTGGGG	NONE	.	.	.	.	.	ENSP00000301305	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000301305	Transcript	1	.	ENSG00000147804	17129	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	S39A4_HUMAN	SLC39A4	HGNC	Q9NX22_HUMAN	.	UPI00001AED01	SNV	SLC39A4,3_prime_UTR_variant,,ENST00000276833,;SLC39A4,3_prime_UTR_variant,,ENST00000301305,;CPSF1,upstream_gene_variant,,ENST00000349769,;SLC39A4,downstream_gene_variant,,ENST00000526658,;CPSF1,upstream_gene_variant,,ENST00000531042,;GS1-393G12.14,downstream_gene_variant,,ENST00000607491,;SLC39A4,non_coding_transcript_exon_variant,,ENST00000532718,;SLC39A4,non_coding_transcript_exon_variant,,ENST00000531013,;SLC39A4,non_coding_transcript_exon_variant,,ENST00000530807,;SLC39A4,intron_variant,,ENST00000527148,;SLC39A4,downstream_gene_variant,,ENST00000531789,;SLC39A4,non_coding_transcript_exon_variant,,ENST00000529462,;	2140	50	70	SUCCESS
STC1	6781	.	GRCh37	8	23702196	23702196	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	19	0	ENST00000290271.2:c.*87T>A			ENST00000290271	NM_003155.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6043.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATCAAACCA	NONE	.	.	.	.	.	ENSP00000290271	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000290271	Transcript	.	.	ENSG00000159167	11373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STC1_HUMAN	STC1	HGNC	Q71UE5_HUMAN,B4DN22_HUMAN	.	UPI00001360B4	SNV	STC1,3_prime_UTR_variant,,ENST00000524323,;STC1,3_prime_UTR_variant,,ENST00000290271,;	1115	19	49	SUCCESS
PXDNL	137902	.	GRCh37	8	52232416	52232416	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs769760381	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	46	73	0	ENST00000356297.4:c.*35A>T			ENST00000356297	NM_144651.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47855.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAAATTTCCC	NONE	.	.	.	.	.	ENSP00000348645	.	23/23	.	.	.	.	.	.	.	.	rs769760381	23/23	PASS	ENST00000356297	Transcript	.	.	ENSG00000147485	26359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PXDNL_HUMAN	PXDNL	HGNC	.	.	UPI0001AE6ED6	SNV	PXDNL,3_prime_UTR_variant,,ENST00000543296,;PXDNL,3_prime_UTR_variant,,ENST00000522933,;PXDNL,3_prime_UTR_variant,,ENST00000356297,;RP11-401H2.1,intron_variant,,ENST00000521294,;PXDNL,3_prime_UTR_variant,,ENST00000522628,;PXDNL,downstream_gene_variant,,ENST00000519183,;	4528	73	100	SUCCESS
GCNT1	2650	.	GRCh37	9	79119269	79119269	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	153	63	102	0	ENST00000376730.4:c.*685del			ENST00000376730	NM_001490.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6653.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CATCTTATGTTA	NONE	.	.	.	.	.	ENSP00000415454	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000442371	Transcript	.	.	ENSG00000187210	4203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GCNT1_HUMAN	GCNT1	HGNC	.	.	UPI000013CF63	deletion	GCNT1,3_prime_UTR_variant,,ENST00000376730,;GCNT1,3_prime_UTR_variant,,ENST00000442371,;GCNT1,3_prime_UTR_variant,,ENST00000444201,;GCNT1,downstream_gene_variant,,ENST00000536223,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	2911	102	216	SUCCESS
SLITRK2	84631	.	GRCh37	X	144910444	144910444	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	333	164	559	0				ENST00000370490				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14681.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATACTTGTGC	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,3_prime_UTR_variant,,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	1517	560	497	SUCCESS
SMC1A	8243	.	GRCh37	X	53407003	53407003	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	90	208	0	ENST00000322213.4:c.*21C>G			ENST00000322213	NM_001281463.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14352.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACAGGGCGGG	NONE	.	.	.	.	.	ENSP00000323421	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000322213	Transcript	.	.	ENSG00000072501	11111	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC1A_HUMAN	SMC1A	HGNC	.	.	UPI0000135A4D	SNV	SMC1A,3_prime_UTR_variant,,ENST00000322213,;SMC1A,downstream_gene_variant,,ENST00000470241,;SMC1A,downstream_gene_variant,,ENST00000469129,;	3851	208	230	SUCCESS
OTUD6A	139562	.	GRCh37	X	69283377	69283377	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A2KB-01	TCGA-EP-A2KB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	48	79	0	ENST00000338352.2:c.*136C>A			ENST00000338352	NM_207320.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14395.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCGCCCC	NONE	.	.	.	.	.	ENSP00000339389	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338352	Transcript	.	.	ENSG00000189401	32312	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTU6A_HUMAN	OTUD6A	HGNC	.	.	UPI00000712B7	SNV	OTUD6A,3_prime_UTR_variant,,ENST00000338352,;	1037	79	92	SUCCESS
CCDC59	29080	.	GRCh37	12	82746877	82746877	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	53	0	ENST00000256151.7:c.*53A>G			ENST00000256151	NM_014167.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9023.1	.	MUTECT|MUSE	.	ACATGTCACAG	NONE	.	.	.	.	.	ENSP00000256151	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000256151	Transcript	.	.	ENSG00000133773	25005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TAP26_HUMAN	CCDC59	HGNC	.	.	UPI0000034DFE	SNV	CCDC59,3_prime_UTR_variant,,ENST00000256151,;CCDC59,intron_variant,,ENST00000552377,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;CCDC59,downstream_gene_variant,,ENST00000552412,;CCDC59,non_coding_transcript_exon_variant,,ENST00000550589,;CCDC59,downstream_gene_variant,,ENST00000547758,;CCDC59,downstream_gene_variant,,ENST00000552606,;	1191	53	14	SUCCESS
COMMD7	149951	.	GRCh37	20	31291082	31291082	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs562334971	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	21	0	ENST00000278980.6:c.*102A>T			ENST00000278980	NM_001099339.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42864.1	.	MUTECT|MUSE	.	CCCCATGGAGC	NONE	.	.	.	.	.	ENSP00000278980	.	9/9	.	.	.	.	.	.	.	.	rs562334971	9/9	PASS	ENST00000278980	Transcript	.	.	ENSG00000149600	16223	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COMD7_HUMAN	COMMD7	HGNC	.	.	UPI000006D145	SNV	COMMD7,3_prime_UTR_variant,,ENST00000446419,;COMMD7,3_prime_UTR_variant,,ENST00000278980,;COMMD7,downstream_gene_variant,,ENST00000474815,;COMMD7,3_prime_UTR_variant,,ENST00000610160,;	1311	21	8	SUCCESS
SCAND1	51282	.	GRCh37	20	34542921	34542921	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	63	0				ENST00000305978	NM_033630.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13269.1	.	RADIA|MUSE	.	TGACAAAGTAC	NONE	.	.	.	.	.	ENSP00000363103	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373991	Transcript	.	.	ENSG00000171222	10566	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCND1_HUMAN	SCAND1	HGNC	Q9NZG6_HUMAN,H0UIA5_HUMAN	.	UPI0000000C19	SNV	SCAND1,5_prime_UTR_variant,,ENST00000373991,;PHF20,downstream_gene_variant,,ENST00000439301,;PHF20,downstream_gene_variant,,ENST00000374012,;SCAND1,upstream_gene_variant,,ENST00000305978,;	357	63	13	SUCCESS
PDCL3	79031	.	GRCh37	2	101192967	101192967	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs766111038	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	32	0	ENST00000264254.6:c.*9C>T			ENST00000264254	NM_024065.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33261.1	.	RADIA|MUSE	.	TACAGCTTCTA	NONE	.	.	.	.	.	ENSP00000264254	.	6/6	.	.	.	.	.	.	.	.	rs766111038	6/6	PASS	ENST00000264254	Transcript	.	.	ENSG00000115539	28860	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDCL3_HUMAN	PDCL3	HGNC	C9JST4_HUMAN	.	UPI00000372D0	SNV	PDCL3,3_prime_UTR_variant,,ENST00000264254,;PDCL3,downstream_gene_variant,,ENST00000450127,;PDCL3,downstream_gene_variant,,ENST00000416255,;snoU13,upstream_gene_variant,,ENST00000458824,;	1107	32	15	SUCCESS
FAM84A	0	.	GRCh37	2	14775882	14775882	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-EP-A2KC-01	TCGA-EP-A2KC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	66	0	ENST00000295092.2:c.*900G>T			ENST00000295092	NM_145175.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTCGGGCTG	NONE	.	.	.	.	.	ENSP00000295092	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295092	Transcript	.	.	ENSG00000162981	20743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA84A_HUMAN	FAM84A	HGNC	.	.	UPI000013E203	SNV	FAM84A,3_prime_UTR_variant,,ENST00000331243,;FAM84A,3_prime_UTR_variant,,ENST00000295092,;AC011897.1,intron_variant,,ENST00000581929,;FAM84A,intron_variant,,ENST00000464947,;FAM84A,intron_variant,,ENST00000497769,;	2067	66	35	SUCCESS
ADAM12	8038	.	GRCh37	10	127705765	127705765	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	5	61	0	ENST00000368679.4:c.*83del			ENST00000368679	NM_003474.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7653.1	.	VARSCANI*|PINDEL	.	AATCCTAAAAGT	NONE	.	.	.	.	.	ENSP00000357668	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000368679	Transcript	.	.	ENSG00000148848	190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADA12_HUMAN	ADAM12	HGNC	.	.	UPI000036672C	deletion	ADAM12,3_prime_UTR_variant,,ENST00000368679,;	3123	61	43	SUCCESS
NEBL	10529	.	GRCh37	10	21074666	21074666	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	59	0	ENST00000377122.4:c.*10C>T			ENST00000377122	NM_006393.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7134.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGGAGAA	NONE	.	.	.	.	.	ENSP00000366326	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000377122	Transcript	.	.	ENSG00000078114	16932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NEBL_HUMAN	NEBL	HGNC	B0YJ47_HUMAN	.	UPI000012FEE8	SNV	NEBL,3_prime_UTR_variant,,ENST00000377122,;NEBL,3_prime_UTR_variant,,ENST00000377159,;NEBL,3_prime_UTR_variant,,ENST00000417816,;	3452	59	26	SUCCESS
ATL3	25923	.	GRCh37	11	63396664	63396664	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	49	0	ENST00000398868.3:c.*127G>T			ENST00000398868	NM_015459.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41663.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCCATGTT	NONE	.	.	.	.	.	ENSP00000381844	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000398868	Transcript	.	.	ENSG00000184743	24526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATLA3_HUMAN	ATL3	HGNC	F5H6I7_HUMAN	.	UPI0000071A21	SNV	ATL3,3_prime_UTR_variant,,ENST00000398868,;ATL3,3_prime_UTR_variant,,ENST00000332645,;ATL3,downstream_gene_variant,,ENST00000538786,;RP11-697H9.4,upstream_gene_variant,,ENST00000605170,;	2030	49	28	SUCCESS
MAPKAPK5	8550	.	GRCh37	12	112330895	112330895	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs549609313	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	11	25	0	ENST00000551404.2:c.*30A>G			ENST00000551404				0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS44975.1	.	MUTECT|MUSE	.	TAACAATTTGA	NONE	by1000G	.	.	G:0.001	.	ENSP00000449381	G:0	14/14	.	.	.	.	.	.	.	.	rs549609313	14/14	PASS	ENST00000551404	Transcript	.	G:0.0002	ENSG00000089022	6889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0	.	.	MAPK5_HUMAN	MAPKAPK5	HGNC	.	.	UPI0000161429	SNV	MAPKAPK5,3_prime_UTR_variant,,ENST00000550735,;MAPKAPK5,3_prime_UTR_variant,,ENST00000551404,;MAPKAPK5,downstream_gene_variant,,ENST00000549875,;RP3-462E2.5,upstream_gene_variant,,ENST00000602695,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000547067,;MAPKAPK5,intron_variant,,ENST00000547915,;MAPKAPK5,downstream_gene_variant,,ENST00000552111,;MAPKAPK5,downstream_gene_variant,,ENST00000553053,;	1560	25	26	SUCCESS
ATXN7L3B	552889	.	GRCh37	12	74933098	74933098	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1019060360	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	9	60	0	ENST00000519948.2:c.*912A>T			ENST00000519948	NM_001136262.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53815.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCATGGGT	NONE	.	.	.	.	.	ENSP00000430000	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000519948	Transcript	.	.	ENSG00000253719	37931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A7L3B_HUMAN	ATXN7L3B	HGNC	.	.	UPI00001FC7BD	SNV	ATXN7L3B,3_prime_UTR_variant,,ENST00000519948,;RP11-56G10.2,upstream_gene_variant,,ENST00000550926,;	1548	60	48	SUCCESS
SPATA32	124783	.	GRCh37	17	43331784	43331784	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	18	123	0	ENST00000331780.4:c.*9A>T			ENST00000331780	NM_152343.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGTTCTGTC	NONE	.	.	.	.	.	ENSP00000331532	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331780	Transcript	.	.	ENSG00000184361	26349	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPT32_HUMAN	SPATA32	HGNC	K7EQM9_HUMAN,B7Z7K7_HUMAN	.	UPI000049DE53	SNV	SPATA32,3_prime_UTR_variant,,ENST00000543122,;SPATA32,3_prime_UTR_variant,,ENST00000331780,;MAP3K14-AS1,intron_variant,,ENST00000590100,;MAP3K14-AS1,intron_variant,,ENST00000591263,;MAP3K14-AS1,intron_variant,,ENST00000588504,;MAP3K14-AS1,intron_variant,,ENST00000585346,;MAP3K14-AS1,intron_variant,,ENST00000592422,;MAP3K14-AS1,intron_variant,,ENST00000588698,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588160,;SPATA32,3_prime_UTR_variant,,ENST00000586359,;SPATA32,3_prime_UTR_variant,,ENST00000588866,;	1260	123	90	SUCCESS
PDZK1IP1	10158	.	GRCh37	1	47649495	47649495	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1047215478	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	28	0	ENST00000294338.2:c.*148T>C			ENST00000294338	NM_005764.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS546.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTATACTTCA	NONE	.	.	.	.	.	ENSP00000294338	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000294338	Transcript	.	.	ENSG00000162366	16887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDZ1I_HUMAN	PDZK1IP1	HGNC	.	.	UPI000004EC8A	SNV	PDZK1IP1,3_prime_UTR_variant,,ENST00000294338,;PDZK1IP1,downstream_gene_variant,,ENST00000371885,;CYP4A22-AS1,upstream_gene_variant,,ENST00000444042,;LINC00853,downstream_gene_variant,,ENST00000429328,;PDZK1IP1,non_coding_transcript_exon_variant,,ENST00000491793,;PDZK1IP1,non_coding_transcript_exon_variant,,ENST00000489919,;	616	28	21	SUCCESS
NMS	129521	.	GRCh37	2	101086943	101086943	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs756160535	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	16	85	0				ENST00000376865	NM_001011717.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33259.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGACTCTCA	NONE	byFrequency	1	.	.	.	ENSP00000366061	.	.	.	.	.	.	.	.	.	.	rs756160535	.	PASS	ENST00000376865	Transcript	.	.	ENSG00000204640	32203	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMS_HUMAN	NMS	HGNC	.	.	UPI00004C7A83	SNV	NMS,upstream_gene_variant,,ENST00000376865,;	.	85	50	SUCCESS
B3GALT1	8708	.	GRCh37	2	168726974	168726974	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	5	64	0	ENST00000392690.3:c.*444T>C			ENST00000392690				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2227.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCGTGTGTGTT	NONE	.	.	.	.	.	ENSP00000376456	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392690	Transcript	.	.	ENSG00000172318	916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B3GT1_HUMAN	B3GALT1	HGNC	.	.	UPI00000255A2	SNV	B3GALT1,3_prime_UTR_variant,,ENST00000305861,;B3GALT1,3_prime_UTR_variant,,ENST00000392690,;AC016723.4,intron_variant,,ENST00000436982,;AC016723.4,upstream_gene_variant,,ENST00000430546,;	1517	64	35	SUCCESS
STARD4	134429	.	GRCh37	5	110835475	110835475	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	24	0	ENST00000296632.3:c.*109A>G			ENST00000296632	NM_139164.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4104.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATTTCAAA	NONE	.	.	.	.	.	ENSP00000296632	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000296632	Transcript	.	.	ENSG00000164211	18058	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAR4_HUMAN	STARD4	HGNC	Q86T95_HUMAN,D6RIC8_HUMAN,B0AZS2_HUMAN	.	UPI0000136135	SNV	STARD4,3_prime_UTR_variant,,ENST00000296632,;STARD4,3_prime_UTR_variant,,ENST00000512160,;CAMK4,downstream_gene_variant,,ENST00000282356,;STARD4,downstream_gene_variant,,ENST00000505803,;STARD4,downstream_gene_variant,,ENST00000502322,;STARD4,downstream_gene_variant,,ENST00000509887,;STARD4,non_coding_transcript_exon_variant,,ENST00000502931,;STARD4,downstream_gene_variant,,ENST00000511436,;STARD4,downstream_gene_variant,,ENST00000511569,;STARD4,downstream_gene_variant,,ENST00000510346,;STARD4,3_prime_UTR_variant,,ENST00000511137,;STARD4,downstream_gene_variant,,ENST00000455172,;	862	24	15	SUCCESS
TAS2R5	54429	.	GRCh37	7	141491097	141491097	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	61	10	74	0	ENST00000247883.4:c.*36del			ENST00000247883	NM_018980.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5869.1	.	INDELOCATOR*|PINDEL	.	CTTGGGACGCTC	NONE	.	.	.	.	.	ENSP00000247883	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247883	Transcript	.	.	ENSG00000127366	14912	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TA2R5_HUMAN	TAS2R5	HGNC	A4D1U0_HUMAN,Q50KW4_HUMAN	.	UPI0000038B0D	deletion	TAS2R5,3_prime_UTR_variant,,ENST00000247883,;SSBP1,downstream_gene_variant,,ENST00000465582,;TAS2R6,downstream_gene_variant,,ENST00000605022,;	1081	74	71	SUCCESS
GBGT1	26301	.	GRCh37	9	136028790	136028790	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-EP-A3JL-01	TCGA-EP-A3JL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000372040.3:c.*174C>A			ENST00000372040				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6960.1	.	RADIA|MUTECT|MUSE	.	ATCCTGTGTGC	NONE	.	.	.	.	.	ENSP00000361110	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000372040	Transcript	.	.	ENSG00000148288	20460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GBGT1_HUMAN	GBGT1	HGNC	J7Q0Z1_HUMAN,J7PW20_HUMAN	.	UPI000013DB02	SNV	GBGT1,3_prime_UTR_variant,,ENST00000372040,;GBGT1,3_prime_UTR_variant,,ENST00000540636,;GBGT1,3_prime_UTR_variant,,ENST00000372043,;RALGDS,intron_variant,,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000393160,;GBGT1,downstream_gene_variant,,ENST00000372038,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;	1530	14	11	SUCCESS
CTTN	2017	.	GRCh37	11	70281291	70281291	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	23	0	ENST00000301843.8:c.*23C>T			ENST00000301843	NM_005231.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53676.1	.	MUTECT|MUSE	.	CGGAGCTGCGC	NONE	.	.	.	.	.	ENSP00000365745	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000376561	Transcript	.	.	ENSG00000085733	3338	.	.	MODIFIER	17/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRC8_HUMAN	CTTN	HGNC	E9PP90_HUMAN,E9PKG3_HUMAN,B4E358_HUMAN	.	UPI000006E3C2	SNV	CTTN,3_prime_UTR_variant,,ENST00000301843,;CTTN,3_prime_UTR_variant,,ENST00000346329,;CTTN,intron_variant,,ENST00000376561,;CTTN,intron_variant,,ENST00000529736,;CTTN,intron_variant,,ENST00000538675,;CTTN,intron_variant,,ENST00000393747,;CTTN,downstream_gene_variant,,ENST00000533931,;	.	23	33	SUCCESS
PBXIP1	57326	.	GRCh37	1	154917330	154917330	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	20	0	ENST00000368463.3:c.*170G>A			ENST00000368463	NM_020524.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1074.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGCCTTTT	NONE	.	.	.	.	.	ENSP00000357448	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000368463	Transcript	.	.	ENSG00000163346	21199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PBIP1_HUMAN	PBXIP1	HGNC	F5H2F6_HUMAN	.	UPI000006FE01	SNV	PBXIP1,3_prime_UTR_variant,,ENST00000368463,;PBXIP1,3_prime_UTR_variant,,ENST00000539880,;PBXIP1,3_prime_UTR_variant,,ENST00000368465,;PBXIP1,downstream_gene_variant,,ENST00000542459,;PBXIP1,downstream_gene_variant,,ENST00000368460,;PBXIP1,downstream_gene_variant,,ENST00000498553,;PBXIP1,downstream_gene_variant,,ENST00000490230,;	2438	20	35	SUCCESS
PGAP1	80055	.	GRCh37	2	197792436	197792444	+	upstream_gene_variant	5'Flank	DEL	GTTTTGTAC	GTTTTGTAC	CTT	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	GTTTTGTAC	GTTTTGTAC	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	33	0				ENST00000354764	NM_024989.3			0	.	.	.	.	.	CTT	.	protein_coding	YES	CCDS2318.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGTTCTGTTTTGTACAAAGG	NONE	.	981	.	.	.	ENSP00000346809	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000354764	Transcript	.	.	ENSG00000197121	25712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	substitution	PGAP1,5_prime_UTR_variant,,ENST00000409188,;PGAP1,upstream_gene_variant,,ENST00000374738,;PGAP1,upstream_gene_variant,,ENST00000409475,;PGAP1,upstream_gene_variant,,ENST00000354764,;PGAP1,non_coding_transcript_exon_variant,,ENST00000485830,;PGAP1,upstream_gene_variant,,ENST00000423035,;PGAP1,upstream_gene_variant,,ENST00000470179,;	.	33	33	SUCCESS
SLC22A4	6583	.	GRCh37	5	131679562	131679562	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	37	133	0	ENST00000200652.3:c.*34C>A			ENST00000200652	NM_003059.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4153.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAACAGAAA	NONE	.	.	.	.	.	ENSP00000200652	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000200652	Transcript	1	.	ENSG00000197208	10968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22A4_HUMAN	SLC22A4	HGNC	D9N2T6_HUMAN	.	UPI000006DAB7	SNV	SLC22A4,3_prime_UTR_variant,,ENST00000200652,;AC034220.3,intron_variant,,ENST00000417795,;AC034220.3,intron_variant,,ENST00000437091,;	1864	133	167	SUCCESS
CTTN	2017	.	GRCh37	11	70281291	70281291	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	33	0	ENST00000301843.8:c.*23C>T			ENST00000301843	NM_005231.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53676.1	.	MUTECT|MUSE	.	CGGAGCTGCGC	NONE	.	.	.	.	.	ENSP00000365745	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000376561	Transcript	.	.	ENSG00000085733	3338	.	.	MODIFIER	17/18	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRC8_HUMAN	CTTN	HGNC	E9PP90_HUMAN,E9PKG3_HUMAN,B4E358_HUMAN	.	UPI000006E3C2	SNV	CTTN,3_prime_UTR_variant,,ENST00000301843,;CTTN,3_prime_UTR_variant,,ENST00000346329,;CTTN,intron_variant,,ENST00000376561,;CTTN,intron_variant,,ENST00000529736,;CTTN,intron_variant,,ENST00000538675,;CTTN,intron_variant,,ENST00000393747,;CTTN,downstream_gene_variant,,ENST00000533931,;	.	33	33	SUCCESS
PBXIP1	57326	.	GRCh37	1	154917330	154917330	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	9	25	0	ENST00000368463.3:c.*170G>A			ENST00000368463	NM_020524.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1074.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAGGCCTTTT	NONE	.	.	.	.	.	ENSP00000357448	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000368463	Transcript	.	.	ENSG00000163346	21199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PBIP1_HUMAN	PBXIP1	HGNC	F5H2F6_HUMAN	.	UPI000006FE01	SNV	PBXIP1,3_prime_UTR_variant,,ENST00000368463,;PBXIP1,3_prime_UTR_variant,,ENST00000539880,;PBXIP1,3_prime_UTR_variant,,ENST00000368465,;PBXIP1,downstream_gene_variant,,ENST00000542459,;PBXIP1,downstream_gene_variant,,ENST00000368460,;PBXIP1,downstream_gene_variant,,ENST00000498553,;PBXIP1,downstream_gene_variant,,ENST00000490230,;	2438	25	35	SUCCESS
SERTAD4	56256	.	GRCh37	1	210415831	210415831	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs928922672	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	13	0	ENST00000367012.3:c.*149C>T			ENST00000367012	NM_019605.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1494.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGCGTAAA	NONE	.	.	.	.	.	ENSP00000355979	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000367012	Transcript	.	.	ENSG00000082497	25236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRTD4_HUMAN	SERTAD4	HGNC	.	.	UPI0000070BBE	SNV	SERTAD4,3_prime_UTR_variant,,ENST00000367012,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;SERTAD4,downstream_gene_variant,,ENST00000490620,;	1450	13	20	SUCCESS
PGAP1	80055	.	GRCh37	2	197792436	197792444	+	upstream_gene_variant	5'Flank	DEL	GTTTTGTAC	GTTTTGTAC	CTT	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	GTTTTGTAC	GTTTTGTAC	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	39	0				ENST00000354764	NM_024989.3			0	.	.	.	.	.	CTT	.	protein_coding	YES	CCDS2318.1	.	INDELOCATOR*|VARSCANI*|PINDEL|VARSCANS*|SOMATICSNIPER*	.	GGTTCTGTTTTGTACAAAGG	NONE	.	981	.	.	.	ENSP00000346809	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000354764	Transcript	.	.	ENSG00000197121	25712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PGAP1_HUMAN	PGAP1	HGNC	.	.	UPI000035154F	substitution	PGAP1,5_prime_UTR_variant,,ENST00000409188,;PGAP1,upstream_gene_variant,,ENST00000374738,;PGAP1,upstream_gene_variant,,ENST00000409475,;PGAP1,upstream_gene_variant,,ENST00000354764,;PGAP1,non_coding_transcript_exon_variant,,ENST00000485830,;PGAP1,upstream_gene_variant,,ENST00000423035,;PGAP1,upstream_gene_variant,,ENST00000470179,;	.	39	33	SUCCESS
SLC22A4	6583	.	GRCh37	5	131679562	131679562	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-EP-A3RK-01	TCGA-EP-A3RK-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	37	192	0	ENST00000200652.3:c.*34C>A			ENST00000200652	NM_003059.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4153.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAACAGAAA	NONE	.	.	.	.	.	ENSP00000200652	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000200652	Transcript	1	.	ENSG00000197208	10968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S22A4_HUMAN	SLC22A4	HGNC	D9N2T6_HUMAN	.	UPI000006DAB7	SNV	SLC22A4,3_prime_UTR_variant,,ENST00000200652,;AC034220.3,intron_variant,,ENST00000417795,;AC034220.3,intron_variant,,ENST00000437091,;	1864	192	167	SUCCESS
FAM86C1	0	.	GRCh37	11	71510900	71510900	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs375509679	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	30	0	ENST00000359244.4:c.*207G>T			ENST00000359244	NM_018172.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41686.1	.	RADIA|SOMATICSNIPER|MUSE	.	TGCCAGCAGTT	NONE	.	.	.	.	.	ENSP00000352182	.	5/5	.	.	.	.	.	.	.	.	rs375509679	5/5	PASS	ENST00000359244	Transcript	.	.	ENSG00000158483	25561	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FA86C_HUMAN	FAM86C1	HGNC	D6R9N2_HUMAN	.	UPI000013DF79	SNV	FAM86C1,3_prime_UTR_variant,,ENST00000426628,;FAM86C1,3_prime_UTR_variant,,ENST00000346333,;FAM86C1,3_prime_UTR_variant,,ENST00000359244,;AP002495.1,downstream_gene_variant,,ENST00000581755,;CTD-2313N18.5,intron_variant,,ENST00000524714,;CTD-2313N18.5,intron_variant,,ENST00000511954,;FAM86C1,3_prime_UTR_variant,,ENST00000510443,;FAM86C1,3_prime_UTR_variant,,ENST00000528685,;FAM86C1,downstream_gene_variant,,ENST00000526393,;ALG1L9P,downstream_gene_variant,,ENST00000532875,;	728	30	15	SUCCESS
STK38L	23012	.	GRCh37	12	27475416	27475416	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	53	0	ENST00000389032.3:c.*28G>T			ENST00000389032	NM_015000.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31761.1	.	RADIA|MUSE|VARSCANS	.	ACCAAGAGAAC	NONE	.	.	.	.	.	ENSP00000373684	.	14/14	.	.	.	.	.	.	.	.	.	14/14	oxog	ENST00000389032	Transcript	.	.	ENSG00000211455	17848	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ST38L_HUMAN	STK38L	HGNC	F5H7Z3_HUMAN,F5GY51_HUMAN	.	UPI0000035B4A	SNV	STK38L,3_prime_UTR_variant,,ENST00000389032,;STK38L,3_prime_UTR_variant,,ENST00000539577,;STK38L,3_prime_UTR_variant,,ENST00000536093,;STK38L,non_coding_transcript_exon_variant,,ENST00000543992,;	1592	53	64	SUCCESS
MRPS31	10240	.	GRCh37	13	41303469	41303469	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	25	150	0	ENST00000323563.6:c.*39T>G			ENST00000323563	NM_005830.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9372.1	.	RADIA|MUTECT|MUSE	.	GTAATATCCAT	NONE	.	.	.	.	.	ENSP00000315397	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000323563	Transcript	.	.	ENSG00000102738	16632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RT31_HUMAN	MRPS31	HGNC	.	.	UPI000013D1D3	SNV	MRPS31,3_prime_UTR_variant,,ENST00000323563,;MIR320D1,upstream_gene_variant,,ENST00000390157,;MRPS31,non_coding_transcript_exon_variant,,ENST00000498078,;MRPS31,downstream_gene_variant,,ENST00000461675,;	1264	150	82	SUCCESS
MRPS31	10240	.	GRCh37	13	41303505	41303505	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	47	228	0	ENST00000323563.6:c.*3C>A			ENST00000323563	NM_005830.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9372.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGGTCTTA	NONE	.	.	.	.	.	ENSP00000315397	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000323563	Transcript	.	.	ENSG00000102738	16632	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RT31_HUMAN	MRPS31	HGNC	.	.	UPI000013D1D3	SNV	MRPS31,3_prime_UTR_variant,,ENST00000323563,;MIR320D1,upstream_gene_variant,,ENST00000390157,;MRPS31,non_coding_transcript_exon_variant,,ENST00000498078,;MRPS31,downstream_gene_variant,,ENST00000461675,;	1228	228	149	SUCCESS
CDH8	1006	.	GRCh37	16	61687438	61687438	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	109	0	ENST00000577390.1:c.*74A>T			ENST00000577390	NM_001796.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10802.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATTGGTTG	NONE	.	.	.	.	.	ENSP00000462701	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000577390	Transcript	.	.	ENSG00000150394	1767	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CADH8_HUMAN	CDH8	HGNC	J3KTG8_HUMAN,J3KT81_HUMAN	.	UPI0000126D9F	SNV	CDH8,3_prime_UTR_variant,,ENST00000577390,;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	3429	109	67	SUCCESS
UQCRH	7388	.	GRCh37	1	46782348	46782348	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	15	161	0	ENST00000311672.5:c.*92del			ENST00000311672	NM_006004.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30704.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGTGTAACTG	NONE	.	.	.	.	.	ENSP00000309565	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000311672	Transcript	.	.	ENSG00000173660	12590	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	QCR6_HUMAN	UQCRH	HGNC	.	.	UPI0000137A5B	deletion	UQCRH,3_prime_UTR_variant,,ENST00000311672,;UQCRH,non_coding_transcript_exon_variant,,ENST00000460947,;UQCRH,non_coding_transcript_exon_variant,,ENST00000489056,;UQCRH,non_coding_transcript_exon_variant,,ENST00000496387,;	504	161	92	SUCCESS
PCDHB8	56128	.	GRCh37	5	140563037	140563037	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	25	65	0				ENST00000239444	NM_019120.3	301		0	.	.	.	.	.	A	V	protein_coding	YES	CCDS4251.1	903	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGTTCGACT	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,synonymous_variant,p.%3D,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	2058	65	36	SUCCESS
ARL13A	392509	.	GRCh37	X	100245627	100245627	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ES-A2HS-01	TCGA-ES-A2HS-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	217	65	257	0	ENST00000450457.2:c.*355G>C			ENST00000450457				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55463.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTTGGTAAA	NONE	.	.	.	.	.	ENSP00000398637	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000450049	Transcript	.	.	ENSG00000174225	31709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AR13A_HUMAN	ARL13A	HGNC	.	.	UPI0001747A4A	SNV	ARL13A,missense_variant,p.Leu150Phe,ENST00000372953,;ARL13A,3_prime_UTR_variant,,ENST00000450049,;ARL13A,3_prime_UTR_variant,,ENST00000450457,;ARL13A,3_prime_UTR_variant,,ENST00000494863,;	934	257	283	SUCCESS
ADO	84890	.	GRCh37	10	64566633	64566633	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs541490917	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	25	169	0	ENST00000373783.1:c.*1001T>C			ENST00000373783	NM_032804.5			0	.	C:0.0008	.	C:0	.	C	.	protein_coding	YES	CCDS7266.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTATGTT	NONE	by1000G	.	.	C:0	.	ENSP00000362888	C:0	1/1	.	.	.	.	.	.	.	.	rs541490917	1/1	PASS	ENST00000373783	Transcript	.	C:0.0002	ENSG00000181915	23506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	AEDO_HUMAN	ADO	HGNC	.	.	UPI00001F8D78	SNV	ADO,3_prime_UTR_variant,,ENST00000373783,;RP11-436D10.3,upstream_gene_variant,,ENST00000425290,;	2118	169	110	SUCCESS
TRIM5	85363	.	GRCh37	11	5685949	5685949	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	85	0	ENST00000380034.3:c.*90C>G			ENST00000380034	NM_033034.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31393.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAGATGGT	NONE	.	.	.	.	.	ENSP00000369373	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000380034	Transcript	.	.	ENSG00000132256	16276	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIM5_HUMAN	TRIM5	HGNC	L7REZ6_HUMAN,L7RET5_HUMAN,E7EQQ5_HUMAN,D8L201_HUMAN,C9JWN8_HUMAN	.	UPI00000717A7	SNV	TRIM5,3_prime_UTR_variant,,ENST00000380034,;TRIM5,3_prime_UTR_variant,,ENST00000305836,;TRIM5,3_prime_UTR_variant,,ENST00000396847,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000438025,;TRIM5,intron_variant,,ENST00000396853,;TRIM5,intron_variant,,ENST00000396855,;TRIM5,intron_variant,,ENST00000483835,;TRIM5,downstream_gene_variant,,ENST00000465634,;TRIM5,downstream_gene_variant,,ENST00000492086,;TRIM5,3_prime_UTR_variant,,ENST00000433961,;	1829	85	54	SUCCESS
PRSS23	11098	.	GRCh37	11	86521496	86521496	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	112	31	220	0	ENST00000280258.5:c.*1659A>G			ENST00000280258	NM_007173.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8278.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TATGCATAGCA	NONE	.	.	.	.	.	ENSP00000280258	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000280258	Transcript	.	.	ENSG00000150687	14370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRS23_HUMAN	PRSS23	HGNC	E9PRR2_HUMAN,B7ZB43_HUMAN	.	UPI0000048EBC	SNV	PRSS23,3_prime_UTR_variant,,ENST00000280258,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,downstream_gene_variant,,ENST00000441050,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000532234,;	3236	220	143	SUCCESS
SPN	6693	.	GRCh37	16	29678593	29678593	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs187406712	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	70	25	158	0	ENST00000360121.3:c.*2341C>A			ENST00000360121	NM_001030288.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10650.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCCCCCA	NONE	by1000G	.	.	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	rs187406712	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,3_prime_UTR_variant,,ENST00000360121,;QPRT,intron_variant,,ENST00000449759,;SPN,downstream_gene_variant,,ENST00000436527,;SPN,downstream_gene_variant,,ENST00000395389,;SPN,intron_variant,,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;	3636	158	96	SUCCESS
NAPG	8774	.	GRCh37	18	10550276	10550276	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	4	55	0	ENST00000322897.6:c.*59A>G			ENST00000322897	NM_003826.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45827.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAAGGACT	NONE	.	.	.	.	.	ENSP00000324628	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000322897	Transcript	.	.	ENSG00000134265	7642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNAG_HUMAN	NAPG	HGNC	Q6FHY4_HUMAN,B4DFC9_HUMAN	.	UPI0000135B16	SNV	NAPG,3_prime_UTR_variant,,ENST00000542979,;NAPG,3_prime_UTR_variant,,ENST00000322897,;NAPG,3_prime_UTR_variant,,ENST00000580224,;NAPG,3_prime_UTR_variant,,ENST00000580483,;NAPG,non_coding_transcript_exon_variant,,ENST00000583367,;	1067	55	26	SUCCESS
LILRB4	11006	.	GRCh37	19	55179481	55179481	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	5	109	0	ENST00000391736.1:c.*11A>G			ENST00000391736	NM_001278430.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12902.1	.	MUTECT|MUSE	.	GGGGGACCCAG	NONE	.	.	.	.	.	ENSP00000375616	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000391736	Transcript	.	.	ENSG00000186818	6608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIRB4_HUMAN	LILRB4	HGNC	.	.	UPI000013D889	SNV	LILRB4,3_prime_UTR_variant,,ENST00000391736,;LILRB4,3_prime_UTR_variant,,ENST00000430952,;LILRB4,3_prime_UTR_variant,,ENST00000270452,;LILRB4,3_prime_UTR_variant,,ENST00000391733,;LILRB4,3_prime_UTR_variant,,ENST00000391734,;LILRB4,downstream_gene_variant,,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000461262,;LILRB4,downstream_gene_variant,,ENST00000494796,;LILRB4,downstream_gene_variant,,ENST00000470943,;AC011515.2,upstream_gene_variant,,ENST00000441512,;	1673	109	69	SUCCESS
GGPS1	9453	.	GRCh37	1	235506314	235506314	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	139	132	253	0	ENST00000282841.5:c.*227A>G			ENST00000282841				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTGAATGTC	NONE	.	.	.	.	.	ENSP00000282841	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282841	Transcript	.	.	ENSG00000152904	4249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GGPPS_HUMAN	GGPS1	HGNC	C9J7M1_HUMAN,C9J6G3_HUMAN,A8MVQ8_HUMAN	.	UPI000012B3FB	SNV	GGPS1,3_prime_UTR_variant,,ENST00000476121,;GGPS1,3_prime_UTR_variant,,ENST00000358966,;GGPS1,3_prime_UTR_variant,,ENST00000488594,;GGPS1,3_prime_UTR_variant,,ENST00000282841,;GGPS1,3_prime_UTR_variant,,ENST00000391855,;GGPS1,downstream_gene_variant,,ENST00000497327,;GGPS1,downstream_gene_variant,,ENST00000471812,;	1362	253	272	SUCCESS
DHX57	90957	.	GRCh37	2	39042772	39042772	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	T	rs764012601	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	11	138	0	ENST00000457308.1:c.*1795T>A			ENST00000457308		1166		0	.	.	.	.	.	T	F/Y	protein_coding	YES	CCDS1800.1	3497	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGAATTGT	NONE	.	.	hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Pfam_domain:PF07717	.	.	ENSP00000295373	.	20/24	.	.	.	.	.	.	.	.	rs764012601	20/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(0.928)	.	tolerated(0.11)	.	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	SNV	DHX57,missense_variant,p.Phe490Tyr,ENST00000452978,;DHX57,missense_variant,p.Phe1166Tyr,ENST00000295373,;DHX57,downstream_gene_variant,,ENST00000442331,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000497514,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;ASS1P2,upstream_gene_variant,,ENST00000439895,;	3624	138	77	SUCCESS
TRIM41	90933	.	GRCh37	5	180662368	180662368	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	173	46	246	0	ENST00000315073.5:c.*593A>G			ENST00000315073	NM_033549.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4466.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTTAGCTTC	NONE	.	.	.	.	.	ENSP00000320869	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000315073	Transcript	.	.	ENSG00000146063	19013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI41_HUMAN	TRIM41	HGNC	D6REK2_HUMAN	.	UPI00001B248B	SNV	TRIM41,missense_variant,p.Ser516Gly,ENST00000351937,;TRIM41,3_prime_UTR_variant,,ENST00000315073,;GNB2L1,downstream_gene_variant,,ENST00000511900,;GNB2L1,downstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000504128,;GNB2L1,downstream_gene_variant,,ENST00000456394,;GNB2L1,downstream_gene_variant,,ENST00000503081,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,downstream_gene_variant,,ENST00000504726,;GNB2L1,downstream_gene_variant,,ENST00000514455,;GNB2L1,downstream_gene_variant,,ENST00000512968,;GNB2L1,downstream_gene_variant,,ENST00000502844,;GNB2L1,downstream_gene_variant,,ENST00000502905,;TRIM41,downstream_gene_variant,,ENST00000515499,;GNB2L1,downstream_gene_variant,,ENST00000507756,;GNB2L1,downstream_gene_variant,,ENST00000376817,;GNB2L1,downstream_gene_variant,,ENST00000509535,;GNB2L1,downstream_gene_variant,,ENST00000511566,;GNB2L1,downstream_gene_variant,,ENST00000507000,;GNB2L1,downstream_gene_variant,,ENST00000510199,;GNB2L1,downstream_gene_variant,,ENST00000512805,;CTC-338M12.7,upstream_gene_variant,,ENST00000499096,;TRIM41,downstream_gene_variant,,ENST00000510072,;TRIM41,3_prime_UTR_variant,,ENST00000503114,;TRIM41,3_prime_UTR_variant,,ENST00000514219,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;GNB2L1,downstream_gene_variant,,ENST00000514183,;GNB2L1,downstream_gene_variant,,ENST00000507273,;GNB2L1,downstream_gene_variant,,ENST00000508682,;GNB2L1,downstream_gene_variant,,ENST00000503494,;GNB2L1,downstream_gene_variant,,ENST00000504325,;GNB2L1,downstream_gene_variant,,ENST00000502548,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000508044,;GNB2L1,downstream_gene_variant,,ENST00000506312,;GNB2L1,downstream_gene_variant,,ENST00000513060,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000502890,;GNB2L1,downstream_gene_variant,,ENST00000511473,;	3196	246	219	SUCCESS
TBC1D32	221322	.	GRCh37	6	121401901	121401901	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	108	31	287	0				ENST00000398212	NM_152730.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43501.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAAACCGTGT	NONE	.	16	.	.	.	ENSP00000381270	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398212	Transcript	.	.	ENSG00000146350	21485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BROMI_HUMAN	TBC1D32	HGNC	A2A304_HUMAN	.	UPI0000E67203	SNV	TBC1D32,3_prime_UTR_variant,,ENST00000275159,;TBC1D32,downstream_gene_variant,,ENST00000398212,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,downstream_gene_variant,,ENST00000519972,;	.	287	139	SUCCESS
FHL5	9457	.	GRCh37	6	97063666	97063666	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	29	0	ENST00000326771.2:c.*18C>A			ENST00000326771	NM_020482.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5035.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCACCTAAA	NONE	.	.	.	.	.	ENSP00000326022	.	7/7	.	.	.	.	.	.	.	.	.	7/7	oxog	ENST00000326771	Transcript	.	.	ENSG00000112214	17371	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FHL5_HUMAN	FHL5	HGNC	.	.	UPI000006F158	SNV	FHL5,3_prime_UTR_variant,,ENST00000541107,;FHL5,3_prime_UTR_variant,,ENST00000326771,;	1253	29	20	SUCCESS
FHL5	9457	.	GRCh37	6	97063667	97063667	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	29	0	ENST00000326771.2:c.*19C>A			ENST00000326771	NM_020482.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5035.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCACCTAAAA	NONE	.	.	.	.	.	ENSP00000326022	.	7/7	.	.	.	.	.	.	.	.	.	7/7	oxog	ENST00000326771	Transcript	.	.	ENSG00000112214	17371	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FHL5_HUMAN	FHL5	HGNC	.	.	UPI000006F158	SNV	FHL5,3_prime_UTR_variant,,ENST00000541107,;FHL5,3_prime_UTR_variant,,ENST00000326771,;	1254	29	20	SUCCESS
REPIN1	29803	.	GRCh37	7	150070853	150070853	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs995275225	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	17	92	0	ENST00000397281.2:c.*819G>A			ENST00000397281	NM_013400.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGGGAAG	NONE	.	819	.	.	.	ENSP00000417291	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000489432	Transcript	.	.	ENSG00000214022	17922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	REPIN1	HGNC	E7EVL6_HUMAN,C9J3L7_HUMAN	.	UPI0001596898	SNV	REPIN1,3_prime_UTR_variant,,ENST00000425389,;REPIN1,3_prime_UTR_variant,,ENST00000397281,;REPIN1,3_prime_UTR_variant,,ENST00000444957,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000489432,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000540729,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000473391,;	.	92	68	SUCCESS
CHIC1	53344	.	GRCh37	X	72900881	72900881	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ES-A2HT-01	TCGA-ES-A2HT-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	58	107	0	ENST00000373502.5:c.*41T>C			ENST00000373502	NM_001039840.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35335.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTACCCT	NONE	.	.	.	.	.	ENSP00000362601	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000373502	Transcript	.	.	ENSG00000204116	1934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHIC1_HUMAN	CHIC1	HGNC	B7Z4S5_HUMAN	.	UPI0000160F74	SNV	CHIC1,3_prime_UTR_variant,,ENST00000373502,;CHIC1,3_prime_UTR_variant,,ENST00000373504,;CHIC1,3_prime_UTR_variant,,ENST00000498407,;CHIC1,3_prime_UTR_variant,,ENST00000498318,;	793	107	85	SUCCESS
REEP3	221035	.	GRCh37	10	65380687	65380687	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	27	0	ENST00000373758.4:c.*58C>A			ENST00000373758	NM_001001330.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44411.1	.	RADIA|VARSCANS	.	ATCTTCTAACA	NONE	.	.	.	.	.	ENSP00000362863	.	8/8	.	.	.	.	.	.	.	.	.	8/8	oxog	ENST00000373758	Transcript	.	.	ENSG00000165476	23711	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	REEP3_HUMAN	REEP3	HGNC	.	.	UPI00000373BA	SNV	REEP3,3_prime_UTR_variant,,ENST00000373758,;REEP3,3_prime_UTR_variant,,ENST00000298249,;	1009	27	37	SUCCESS
SORL1	6653	.	GRCh37	11	121500285	121500285	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	45	0	ENST00000260197.7:c.*13C>A			ENST00000260197	NM_003105.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8436.1	.	RADIA|VARSCANS	.	TTCCTCACTAG	NONE	.	.	.	.	.	ENSP00000260197	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000260197	Transcript	.	.	ENSG00000137642	11185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SORL_HUMAN	SORL1	HGNC	E9PS32_HUMAN,E9PPB3_HUMAN	.	UPI000013D0B1	SNV	SORL1,3_prime_UTR_variant,,ENST00000534286,;SORL1,3_prime_UTR_variant,,ENST00000527934,;SORL1,3_prime_UTR_variant,,ENST00000525532,;SORL1,3_prime_UTR_variant,,ENST00000260197,;SORL1,3_prime_UTR_variant,,ENST00000532694,;SORL1,non_coding_transcript_exon_variant,,ENST00000527649,;SORL1,non_coding_transcript_exon_variant,,ENST00000530365,;	6787	45	33	SUCCESS
KLC2	64837	.	GRCh37	11	66034872	66034872	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1411654628	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	34	0	ENST00000316924.5:c.*445C>T			ENST00000316924	NM_022822.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8130.1	.	RADIA|VARSCANS	.	GCCTCCCCTCG	NONE	.	.	.	.	.	ENSP00000399403	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000417856	Transcript	.	.	ENSG00000174996	20716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLC2_HUMAN	KLC2	HGNC	E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN	.	UPI0000001645	SNV	KLC2,missense_variant,p.Pro322Leu,ENST00000394078,;KLC2,3_prime_UTR_variant,,ENST00000316924,;KLC2,3_prime_UTR_variant,,ENST00000417856,;KLC2,3_prime_UTR_variant,,ENST00000394066,;KLC2,3_prime_UTR_variant,,ENST00000421552,;KLC2,3_prime_UTR_variant,,ENST00000394067,;KLC2,3_prime_UTR_variant,,ENST00000394065,;RAB1B,upstream_gene_variant,,ENST00000311481,;RAB1B,upstream_gene_variant,,ENST00000527397,;KLC2,downstream_gene_variant,,ENST00000461611,;RP11-867G23.3,downstream_gene_variant,,ENST00000501708,;RP11-867G23.2,downstream_gene_variant,,ENST00000533287,;RP11-867G23.1,upstream_gene_variant,,ENST00000530805,;KLC2,downstream_gene_variant,,ENST00000483152,;KLC2,downstream_gene_variant,,ENST00000534023,;	2557	34	30	SUCCESS
CHST11	50515	.	GRCh37	12	105151622	105151622	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	21	0	ENST00000303694.5:c.*41A>G			ENST00000303694	NM_018413.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9099.1	.	RADIA|VARSCANS	.	ATTTAAGATTT	NONE	.	.	.	.	.	ENSP00000305725	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000303694	Transcript	.	.	ENSG00000171310	17422	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHSTB_HUMAN	CHST11	HGNC	F8VXK3_HUMAN	.	UPI000004A091	SNV	CHST11,3_prime_UTR_variant,,ENST00000549260,;CHST11,3_prime_UTR_variant,,ENST00000303694,;CHST11,downstream_gene_variant,,ENST00000549016,;	1539	21	23	SUCCESS
C2CD4A	145741	.	GRCh37	15	62361514	62361514	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	25	0	ENST00000355522.5:c.*592G>A			ENST00000355522	NM_207322.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32258.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGGCGGCTCAC	NONE	.	.	.	.	.	ENSP00000347712	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355522	Transcript	.	.	ENSG00000198535	33627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	C2C4A_HUMAN	C2CD4A	HGNC	.	.	UPI0000140CF2	SNV	C2CD4A,3_prime_UTR_variant,,ENST00000355522,;	1843	25	35	SUCCESS
BCL2A1	597	.	GRCh37	15	80253380	80253380	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs774583270	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	113	66	194	0	ENST00000267953.3:c.*29C>T			ENST00000267953	NM_004049.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10312.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGCCGGTTTC	NONE	byFrequency	.	.	.	.	ENSP00000267953	.	2/2	.	.	.	.	.	.	.	.	rs774583270	2/2	PASS	ENST00000267953	Transcript	.	.	ENSG00000140379	991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B2LA1_HUMAN	BCL2A1	HGNC	.	.	UPI00001268AE	SNV	BCL2A1,3_prime_UTR_variant,,ENST00000267953,;BCL2A1,3_prime_UTR_variant,,ENST00000335661,;	884	194	179	SUCCESS
ZGLP1	100125288	.	GRCh37	19	10415686	10415686	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	16	0	ENST00000403903.3:c.*81G>T			ENST00000403903	NM_001103167.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45959.1	.	SOMATICSNIPER|VARSCANS	.	CAATCCTCCTA	NONE	.	.	.	.	.	ENSP00000384434	.	4/4	.	.	.	.	.	.	.	.	.	4/4	oxog	ENST00000403903	Transcript	.	.	ENSG00000220201	37245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZGLP1_HUMAN	ZGLP1	HGNC	B5MCP8_HUMAN	.	UPI00001D8262	SNV	ZGLP1,3_prime_UTR_variant,,ENST00000403903,;ZGLP1,downstream_gene_variant,,ENST00000403352,;FDX1L,downstream_gene_variant,,ENST00000541276,;ZGLP1,non_coding_transcript_exon_variant,,ENST00000480726,;CTD-2369P2.10,downstream_gene_variant,,ENST00000452032,;CTD-2369P2.10,downstream_gene_variant,,ENST00000493771,;	2096	16	20	SUCCESS
AMPD1	270	.	GRCh37	1	115215728	115215729	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs766226166	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	56	29	71	0	ENST00000520113.2:c.*6dup			ENST00000520113				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS876.2	.	INDELOCATOR|VARSCANI	.	GTTTACTTTTT	NONE	byFrequency	.	.	.	.	ENSP00000430075	.	16/16	.	.	.	.	.	.	.	.	rs766226166	16/16	PASS	ENST00000520113	Transcript	.	.	ENSG00000116748	468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMPD1_HUMAN	AMPD1	HGNC	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN	.	UPI0000470A27	insertion	AMPD1,3_prime_UTR_variant,,ENST00000520113,;AMPD1,3_prime_UTR_variant,,ENST00000369538,;AMPD1,downstream_gene_variant,,ENST00000353928,;DENND2C,upstream_gene_variant,,ENST00000393274,;DENND2C,upstream_gene_variant,,ENST00000393277,;DENND2C,upstream_gene_variant,,ENST00000393276,;DENND2C,upstream_gene_variant,,ENST00000493549,;	2365-2366	72	85	SUCCESS
OLIG1	116448	.	GRCh37	21	34444026	34444026	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	13	54	0	ENST00000382348.1:c.*658G>A			ENST00000382348	NM_138983.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42920.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGAGGACAA	NONE	.	.	.	.	.	ENSP00000371785	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000382348	Transcript	.	.	ENSG00000184221	16983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG1_HUMAN	OLIG1	HGNC	Q59EM0_HUMAN	.	UPI0000130C80	SNV	OLIG1,3_prime_UTR_variant,,ENST00000333063,;OLIG1,3_prime_UTR_variant,,ENST00000382348,;OLIG1,intron_variant,,ENST00000426947,;AP000282.2,upstream_gene_variant,,ENST00000454622,;AP000282.2,upstream_gene_variant,,ENST00000420356,;OLIG1,intron_variant,,ENST00000498799,;	1577	54	21	SUCCESS
RNF7	9616	.	GRCh37	3	141464232	141464232	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs975239274	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	23	0	ENST00000273480.3:c.*113G>A			ENST00000273480	NM_014245.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3118.1	.	MUTECT|MUSE	.	GAGCCGATGGA	NONE	.	.	.	.	.	ENSP00000273480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000273480	Transcript	.	.	ENSG00000114125	10070	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RBX2_HUMAN	RNF7	HGNC	.	.	UPI000006EC30	SNV	RNF7,3_prime_UTR_variant,,ENST00000480908,;RNF7,3_prime_UTR_variant,,ENST00000393000,;RNF7,3_prime_UTR_variant,,ENST00000273480,;RNF7,upstream_gene_variant,,ENST00000486377,;RNF7,3_prime_UTR_variant,,ENST00000477012,;RNF7,3_prime_UTR_variant,,ENST00000477393,;RNF7,downstream_gene_variant,,ENST00000498828,;	593	23	19	SUCCESS
CRYGS	1427	.	GRCh37	3	186256433	186256433	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	22	0	ENST00000307944.5:c.*52G>A			ENST00000307944				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3275.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACCACAAGGC	NONE	.	.	.	.	.	ENSP00000376287	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392499	Transcript	.	.	ENSG00000213139	2417	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRBS_HUMAN	CRYGS	HGNC	Q9UFA7_HUMAN	.	UPI000013EC82	SNV	CRYGS,3_prime_UTR_variant,,ENST00000307944,;CRYGS,3_prime_UTR_variant,,ENST00000392499,;CRYGS,non_coding_transcript_exon_variant,,ENST00000460288,;	929	22	19	SUCCESS
GABRA2	2555	.	GRCh37	4	46252287	46252287	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A23B-01	TCGA-FV-A23B-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	22	34	0	ENST00000356504.1:c.*38T>A			ENST00000356504	NM_001114175.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3471.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTAATGTTG	NONE	.	.	.	.	.	ENSP00000421828	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000510861	Transcript	1	.	ENSG00000151834	4076	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRA2_HUMAN	GABRA2	HGNC	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN	.	UPI000013DC88	SNV	GABRA2,3_prime_UTR_variant,,ENST00000510861,;GABRA2,3_prime_UTR_variant,,ENST00000356504,;GABRA2,3_prime_UTR_variant,,ENST00000381620,;GABRA2,3_prime_UTR_variant,,ENST00000540012,;GABRA2,3_prime_UTR_variant,,ENST00000514090,;GABRA2,downstream_gene_variant,,ENST00000507069,;GABRA2,downstream_gene_variant,,ENST00000513005,;GABRA2,downstream_gene_variant,,ENST00000510233,;	1568	34	33	SUCCESS
BLID	414899	.	GRCh37	11	121986261	121986261	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	15	66	0	ENST00000560104.1:c.*43T>A			ENST00000560104	NM_001001786.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31693.1	.	MUTECT|MUSE	.	GCGAAATCTGT	NONE	.	.	.	.	.	ENSP00000453153	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000560104	Transcript	.	.	ENSG00000259571	33495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BLID_HUMAN	BLID	HGNC	.	.	UPI0000161930	SNV	BLID,3_prime_UTR_variant,,ENST00000560104,;RP11-166D19.1,intron_variant,,ENST00000534297,;	663	66	67	SUCCESS
LRP6	4040	.	GRCh37	12	12273905	12273905	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	23	0	ENST00000261349.4:c.*155G>A			ENST00000261349	NM_002336.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8647.1	.	MUTECT|MUSE	.	CTGTACAAATA	NONE	.	.	.	.	.	ENSP00000261349	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000261349	Transcript	.	.	ENSG00000070018	6698	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRP6_HUMAN	LRP6	HGNC	F5H0Z3_HUMAN,B3KQA9_HUMAN	.	UPI00001FB66C	SNV	LRP6,3_prime_UTR_variant,,ENST00000261349,;BCL2L14,intron_variant,,ENST00000396369,;LRP6,downstream_gene_variant,,ENST00000540527,;LRP6,downstream_gene_variant,,ENST00000543091,;LRP6,downstream_gene_variant,,ENST00000540415,;BCL2L14,intron_variant,,ENST00000298566,;LRP6,intron_variant,,ENST00000538239,;	5074	23	20	SUCCESS
SERTM1	400120	.	GRCh37	13	37271783	37271783	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	30	101	0	ENST00000315190.3:c.*2244C>A			ENST00000315190	NM_203451.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9358.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCTGCC	NONE	.	.	.	.	.	ENSP00000325776	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315190	Transcript	.	.	ENSG00000180440	33792	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRTM1_HUMAN	SERTM1	HGNC	.	.	UPI00000306E4	SNV	SERTM1,3_prime_UTR_variant,,ENST00000315190,;	3014	101	96	SUCCESS
NR2F2	7026	.	GRCh37	15	96880887	96880887	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	30	0	ENST00000394166.3:c.*36A>T			ENST00000394166	NM_021005.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10375.1	.	MUTECT|MUSE	.	GAGAAAGAAAA	NONE	.	.	.	.	.	ENSP00000377721	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	SNV	NR2F2,3_prime_UTR_variant,,ENST00000453270,;NR2F2,3_prime_UTR_variant,,ENST00000394166,;NR2F2,3_prime_UTR_variant,,ENST00000421109,;NR2F2,3_prime_UTR_variant,,ENST00000394171,;NR2F2,downstream_gene_variant,,ENST00000559679,;MIR1469,downstream_gene_variant,,ENST00000410719,;	2670	30	47	SUCCESS
TBC1D16	125058	.	GRCh37	17	77914510	77914510	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	24	0	ENST00000310924.2:c.*148A>G			ENST00000310924	NM_019020.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11766.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTAATATGAA	NONE	.	.	.	.	.	ENSP00000309794	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000310924	Transcript	.	.	ENSG00000167291	28356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TBC16_HUMAN	TBC1D16	HGNC	I3L0U9_HUMAN,B9A6L7_HUMAN	.	UPI000006DDA6	SNV	TBC1D16,3_prime_UTR_variant,,ENST00000340848,;TBC1D16,3_prime_UTR_variant,,ENST00000576768,;TBC1D16,3_prime_UTR_variant,,ENST00000310924,;TBC1D16,downstream_gene_variant,,ENST00000570373,;TBC1D16,downstream_gene_variant,,ENST00000572862,;AC100791.1,upstream_gene_variant,,ENST00000327910,;	2568	24	24	SUCCESS
RASGRP4	115727	.	GRCh37	19	38916847	38916847	+	upstream_gene_variant	5'Flank	DEL	G	G	-	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	26	0				ENST00000587738				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS46068.1	.	INDELOCATOR|VARSCANI	.	GTGCTTGGGAAG	NONE	.	45	.	.	.	ENSP00000465772	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	deletion	RASGRP4,5_prime_UTR_variant,,ENST00000454404,;RASGRP4,5_prime_UTR_variant,,ENST00000426920,;RASGRP4,5_prime_UTR_variant,,ENST00000293062,;RASGRP4,5_prime_UTR_variant,,ENST00000587753,;RASGRP4,5_prime_UTR_variant,,ENST00000433821,;RASGRP4,upstream_gene_variant,,ENST00000586305,;RASGRP4,upstream_gene_variant,,ENST00000587738,;RASGRP4,5_prime_UTR_variant,,ENST00000589474,;RASGRP4,5_prime_UTR_variant,,ENST00000589358,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,upstream_gene_variant,,ENST00000589100,;	.	26	27	SUCCESS
POLR3GL	84265	.	GRCh37	1	145474461	145474461	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	10	65	0				ENST00000369314	NM_032305.1	378		0	.	.	.	.	.	T	P/L	protein_coding	YES	CCDS30829.1	1133	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCCTCTC	NONE	.	.	hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF4	.	.	ENSP00000314103	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000323397	Transcript	.	.	ENSG00000181039	27639	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.72)	.	AN34A_HUMAN	ANKRD34A	HGNC	.	.	UPI00001410C4	SNV	ANKRD34A,missense_variant,p.Pro378Leu,ENST00000323397,;POLR3GL,upstream_gene_variant,,ENST00000369313,;POLR3GL,upstream_gene_variant,,ENST00000369314,;LIX1L,upstream_gene_variant,,ENST00000369308,;RP11-315I20.1,downstream_gene_variant,,ENST00000600340,;POLR3GL,upstream_gene_variant,,ENST00000446572,;POLR3GL,upstream_gene_variant,,ENST00000471706,;	2426	65	66	SUCCESS
SPRR3	6707	.	GRCh37	1	152976105	152976105	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	179	18	125	1	ENST00000295367.4:c.*99C>A			ENST00000295367	NM_001097589.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1033.1	.	MUTECT|MUSE|VARSCANS	.	GTAATCAGCAC	NONE	.	.	.	.	.	ENSP00000330391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000331860	Transcript	.	.	ENSG00000163209	11268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPRR3_HUMAN	SPRR3	HGNC	B1AN48_HUMAN	.	UPI0000127F1F	SNV	SPRR3,3_prime_UTR_variant,,ENST00000295367,;SPRR3,3_prime_UTR_variant,,ENST00000331860,;SPRR3,downstream_gene_variant,,ENST00000542696,;SPRR3,downstream_gene_variant,,ENST00000443178,;SPRR3,downstream_gene_variant,,ENST00000495845,;	759	126	197	SUCCESS
LRRC52	440699	.	GRCh37	1	165533062	165533062	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	51	86	0	ENST00000294818.1:c.*1T>A			ENST00000294818	NM_001005214.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30930.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTAGTTGCCA	NONE	.	.	.	.	.	ENSP00000294818	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000294818	Transcript	.	.	ENSG00000162763	32156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC52_HUMAN	LRRC52	HGNC	.	.	UPI000013E1BE	SNV	LRRC52,3_prime_UTR_variant,,ENST00000294818,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;RP11-280O1.2,intron_variant,,ENST00000438275,;	1233	86	115	SUCCESS
C1orf115	79762	.	GRCh37	1	220870112	220870112	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	35	0	ENST00000294889.5:c.*39A>G			ENST00000294889	NM_024709.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1524.1	.	MUTECT|MUSE	.	ACGGGAGCCCC	NONE	.	.	.	.	.	ENSP00000294889	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000294889	Transcript	.	.	ENSG00000162817	25873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CA115_HUMAN	C1orf115	HGNC	.	.	UPI0000073CC0	SNV	C1orf115,3_prime_UTR_variant,,ENST00000294889,;	1026	35	33	SUCCESS
OR11L1	391189	.	GRCh37	1	248004229	248004229	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	112	35	96	0	ENST00000355784.2:c.*1G>T			ENST00000355784	NM_001001959.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31098.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTACCTAAT	NONE	.	.	.	.	.	ENSP00000348033	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000355784	Transcript	.	.	ENSG00000197591	14998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O11L1_HUMAN	OR11L1	HGNC	.	.	UPI0000061EBC	SNV	OR11L1,3_prime_UTR_variant,,ENST00000355784,;	1026	96	147	SUCCESS
TEF	7008	.	GRCh37	22	41792015	41792016	+	3_prime_UTR_variant	3'UTR	INS	-	-	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	28	0	ENST00000266304.4:c.*56dup			ENST00000266304	NM_003216.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14014.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCCTGGGGG	NONE	.	.	.	.	.	ENSP00000266304	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000266304	Transcript	.	.	ENSG00000167074	11722	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TEF_HUMAN	TEF	HGNC	B4DIH3_HUMAN	.	UPI00000747BD	insertion	TEF,3_prime_UTR_variant,,ENST00000266304,;TEF,3_prime_UTR_variant,,ENST00000406644,;TEF,downstream_gene_variant,,ENST00000413942,;	1079-1080	28	29	SUCCESS
EPHA3	2042	.	GRCh37	3	89528848	89528848	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	11	19	0	ENST00000336596.2:c.*196G>T			ENST00000336596	NM_005233.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2922.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGGTGGGGTA	NONE	.	.	.	.	.	ENSP00000337451	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000336596	Transcript	.	.	ENSG00000044524	3387	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHA3_HUMAN	EPHA3	HGNC	.	.	UPI0000163BE4	SNV	EPHA3,3_prime_UTR_variant,,ENST00000336596,;EPHA3,downstream_gene_variant,,ENST00000494014,;	3373	19	21	SUCCESS
HGFAC	3083	.	GRCh37	4	3441484	3441484	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	45	0				ENST00000382774	NM_001528.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3366.1	.	MUTECT|MUSE	.	GCCTCAGGGGG	NONE	.	.	.	.	.	ENSP00000339381	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000344733	Transcript	.	.	ENSG00000159788	9994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGS12_HUMAN	RGS12	HGNC	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN	.	UPI0000133830	SNV	RGS12,3_prime_UTR_variant,,ENST00000344733,;RGS12,3_prime_UTR_variant,,ENST00000338806,;HGFAC,upstream_gene_variant,,ENST00000382774,;HGFAC,upstream_gene_variant,,ENST00000511533,;RGS12,non_coding_transcript_exon_variant,,ENST00000509772,;RGS12,non_coding_transcript_exon_variant,,ENST00000504194,;HGFAC,upstream_gene_variant,,ENST00000509689,;	5321	45	20	SUCCESS
DDX43	55510	.	GRCh37	6	74104168	74104168	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	55	0				ENST00000370336	NM_018665.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4977.1	.	MUTECT|MUSE	.	GAAGCCAAGAG	NONE	.	303	.	.	.	ENSP00000359361	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370336	Transcript	.	.	ENSG00000080007	18677	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DDX43_HUMAN	DDX43	HGNC	.	.	UPI000013CA60	SNV	OOEP,5_prime_UTR_variant,,ENST00000441145,;OOEP,5_prime_UTR_variant,,ENST00000370363,;DDX43,upstream_gene_variant,,ENST00000539829,;DDX43,upstream_gene_variant,,ENST00000370336,;snoU13,upstream_gene_variant,,ENST00000459178,;DDX43,upstream_gene_variant,,ENST00000464221,;RPS6P8,upstream_gene_variant,,ENST00000421830,;	.	55	51	SUCCESS
C7orf33	202865	.	GRCh37	7	148312523	148312523	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	87	0	ENST00000307003.2:c.*30C>G			ENST00000307003	NM_145304.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5890.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCTCTAAAT	NONE	.	.	.	.	.	ENSP00000304071	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000307003	Transcript	.	.	ENSG00000170279	21724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG033_HUMAN	C7orf33	HGNC	.	.	UPI00000707BF	SNV	C7orf33,3_prime_UTR_variant,,ENST00000307003,;	925	87	76	SUCCESS
TLR7	51284	.	GRCh37	X	12906939	12906939	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QQ-01	TCGA-FV-A2QQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	10	14	0	ENST00000380659.3:c.*162A>G			ENST00000380659	NM_016562.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14151.1	.	MUTECT|MUSE	.	TGGAAAGATGG	NONE	.	.	.	.	.	ENSP00000370034	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000380659	Transcript	.	.	ENSG00000196664	15631	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TLR7_HUMAN	TLR7	HGNC	B2R9N9_HUMAN	.	UPI000004BAF6	SNV	TLR7,3_prime_UTR_variant,,ENST00000380659,;	3451	14	12	SUCCESS
ACCSL	390110	.	GRCh37	11	44081484	44081484	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs770381804	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	43	119	0	ENST00000378832.1:c.*14C>A			ENST00000378832	NM_001031854.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41636.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCAACCA	NONE	.	.	.	.	.	ENSP00000368109	.	14/14	.	.	.	.	.	.	.	.	rs770381804	14/14	PASS	ENST00000378832	Transcript	.	.	ENSG00000205126	34391	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	1A1L2_HUMAN	ACCSL	HGNC	.	.	UPI000023785D	SNV	ACCSL,3_prime_UTR_variant,,ENST00000378832,;ACCSL,3_prime_UTR_variant,,ENST00000527145,;	1777	119	117	SUCCESS
MTA2	9219	.	GRCh37	11	62361211	62361211	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	13	0	ENST00000278823.2:c.*136G>A			ENST00000278823	NM_004739.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8022.1	.	MUTECT|MUSE	.	CAACCCCTCCA	NONE	.	.	.	.	.	ENSP00000278823	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000278823	Transcript	.	.	ENSG00000149480	7411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MTA2_HUMAN	MTA2	HGNC	Q68DB1_HUMAN	.	UPI000012F743	SNV	MTA2,3_prime_UTR_variant,,ENST00000524902,;MTA2,3_prime_UTR_variant,,ENST00000278823,;TUT1,upstream_gene_variant,,ENST00000476907,;MTA2,downstream_gene_variant,,ENST00000527204,;TUT1,upstream_gene_variant,,ENST00000278279,;TUT1,upstream_gene_variant,,ENST00000308436,;TUT1,upstream_gene_variant,,ENST00000494385,;MTA2,downstream_gene_variant,,ENST00000532239,;MTA2,downstream_gene_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000526844,;MTA2,downstream_gene_variant,,ENST00000531179,;MIR3654,upstream_gene_variant,,ENST00000496634,;TUT1,upstream_gene_variant,,ENST00000478537,;	2533	13	18	SUCCESS
CSRNP2	81566	.	GRCh37	12	51457494	51457494	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	18	41	0	ENST00000228515.1:c.*35T>C			ENST00000228515	NM_030809.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8807.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAGAGAA	NONE	.	.	.	.	.	ENSP00000228515	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000228515	Transcript	.	.	ENSG00000110925	16006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSRN2_HUMAN	CSRNP2	HGNC	F8W1G8_HUMAN,F8VZY2_HUMAN,F8VVN1_HUMAN,F8VTU0_HUMAN	.	UPI0000073111	SNV	CSRNP2,3_prime_UTR_variant,,ENST00000228515,;LETMD1,downstream_gene_variant,,ENST00000547008,;LETMD1,downstream_gene_variant,,ENST00000553043,;LETMD1,downstream_gene_variant,,ENST00000552739,;CSRNP2,downstream_gene_variant,,ENST00000548206,;LETMD1,downstream_gene_variant,,ENST00000418425,;LETMD1,downstream_gene_variant,,ENST00000551931,;LETMD1,downstream_gene_variant,,ENST00000550929,;LETMD1,downstream_gene_variant,,ENST00000262055,;LETMD1,downstream_gene_variant,,ENST00000547256,;LETMD1,downstream_gene_variant,,ENST00000380123,;LETMD1,downstream_gene_variant,,ENST00000547660,;LETMD1,downstream_gene_variant,,ENST00000548516,;LETMD1,downstream_gene_variant,,ENST00000549395,;LETMD1,downstream_gene_variant,,ENST00000546814,;LETMD1,downstream_gene_variant,,ENST00000552645,;LETMD1,downstream_gene_variant,,ENST00000550100,;LETMD1,downstream_gene_variant,,ENST00000550274,;LETMD1,downstream_gene_variant,,ENST00000547555,;LETMD1,downstream_gene_variant,,ENST00000380135,;LETMD1,downstream_gene_variant,,ENST00000547318,;LETMD1,downstream_gene_variant,,ENST00000547877,;LETMD1,downstream_gene_variant,,ENST00000549686,;	1965	41	36	SUCCESS
SLITRK5	26050	.	GRCh37	13	88331838	88331838	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	68	0	ENST00000325089.6:c.*1318A>G			ENST00000325089	NM_015567.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9465.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATAGTTTC	NONE	.	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,downstream_gene_variant,,ENST00000400028,;	4414	68	94	SUCCESS
IGHD	3495	.	GRCh37	14	106303299	106303299	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	34	87	0	ENST00000390556.2:c.*186G>T			ENST00000390556				0	.	.	.	.	.	A	.	IG_C_gene	YES	.	.	MUTECT|MUSE	.	GGGTGCCCGTC	NONE	.	.	.	.	.	ENSP00000374998	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000390556	Transcript	.	.	ENSG00000211898	5480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	IGHD	HGNC	.	.	UPI000173A6A0	SNV	IGHD,3_prime_UTR_variant,,ENST00000390556,;	1478	87	111	SUCCESS
CYP1A2	1544	.	GRCh37	15	75047442	75047442	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	26	0	ENST00000343932.4:c.*13C>A			ENST00000343932	NM_000761.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32293.1	.	RADIA|MUTECT|MUSE	.	ACCACCATTCT	NONE	.	.	.	.	.	ENSP00000342007	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000343932	Transcript	1	.	ENSG00000140505	2596	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP1A2_HUMAN	CYP1A2	HGNC	.	.	UPI0000073775	SNV	CYP1A2,3_prime_UTR_variant,,ENST00000343932,;	1627	26	27	SUCCESS
RN7SL214P	106479300	.	GRCh37	15	78211470	78211470	+	upstream_gene_variant	5'Flank	SNP	T	T	A	rs200829951	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	185	111	219	0				ENST00000487317				0	.	.	.	.	.	A	.	lincRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGTCTCTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200829951	.	PASS	ENST00000565869	Transcript	.	.	ENSG00000261244	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-114H24.7	Clone_based_vega_gene	.	.	.	SNV	RP11-114H24.7,intron_variant,,ENST00000565869,;RN7SL214P,upstream_gene_variant,,ENST00000487317,;RP11-114H24.2,non_coding_transcript_exon_variant,,ENST00000567226,;RP11-114H24.2,upstream_gene_variant,,ENST00000563349,;RP11-114H24.2,upstream_gene_variant,,ENST00000568307,;RP11-114H24.2,non_coding_transcript_exon_variant,,ENST00000562938,;	.	219	296	SUCCESS
TROVE2	0	.	GRCh37	1	193028900	193028900	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs759393706	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	100	240	152	1				ENST00000367446	NM_004600.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1378.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCAGGTACA	NONE	byFrequency	274	.	.	.	ENSP00000356425	.	.	.	.	.	.	.	.	.	.	rs759393706	.	PASS	ENST00000367455	Transcript	.	.	ENSG00000116750	19678	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCHL5_HUMAN	UCHL5	HGNC	.	.	UPI000013CF2A	SNV	UCHL5,synonymous_variant,p.%3D,ENST00000417752,;UCHL5,5_prime_UTR_variant,,ENST00000367452,;TROVE2,5_prime_UTR_variant,,ENST00000506303,;TROVE2,5_prime_UTR_variant,,ENST00000432079,;TROVE2,5_prime_UTR_variant,,ENST00000415442,;TROVE2,5_prime_UTR_variant,,ENST00000400968,;TROVE2,upstream_gene_variant,,ENST00000416058,;UCHL5,upstream_gene_variant,,ENST00000367448,;UCHL5,upstream_gene_variant,,ENST00000530098,;TROVE2,upstream_gene_variant,,ENST00000367445,;UCHL5,upstream_gene_variant,,ENST00000367450,;UCHL5,upstream_gene_variant,,ENST00000367454,;TROVE2,upstream_gene_variant,,ENST00000367444,;UCHL5,upstream_gene_variant,,ENST00000367451,;UCHL5,upstream_gene_variant,,ENST00000367449,;UCHL5,upstream_gene_variant,,ENST00000421683,;TROVE2,upstream_gene_variant,,ENST00000367443,;TROVE2,upstream_gene_variant,,ENST00000367446,;UCHL5,upstream_gene_variant,,ENST00000367455,;snoU109,upstream_gene_variant,,ENST00000458806,;TROVE2,non_coding_transcript_exon_variant,,ENST00000460715,;UCHL5,upstream_gene_variant,,ENST00000483156,;TROVE2,non_coding_transcript_exon_variant,,ENST00000469214,;	.	154	340	SUCCESS
C22orf43	0	.	GRCh37	22	23950866	23950866	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	21	60	0	ENST00000317749.5:c.*85T>A			ENST00000317749	NM_016449.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42985.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAGACCTCC	NONE	.	.	.	.	.	ENSP00000316137	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000317749	Transcript	.	.	ENSG00000189269	28031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV043_HUMAN	C22orf43	HGNC	.	.	UPI00001CE017	SNV	C22orf43,3_prime_UTR_variant,,ENST00000317749,;	1073	60	77	SUCCESS
GUCD1	83606	.	GRCh37	22	24937089	24937089	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	39	44	56	0	ENST00000407471.3:c.*1885A>T			ENST00000407471	NM_001284251.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33621.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGGTCTCTGAA	NONE	.	.	.	.	.	ENSP00000386076	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000407471	Transcript	.	.	ENSG00000138867	14237	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GUCD1_HUMAN	GUCD1	HGNC	B5MCF3_HUMAN	.	UPI00003FF9EE	SNV	GUCD1,3_prime_UTR_variant,,ENST00000407471,;GUCD1,3_prime_UTR_variant,,ENST00000435822,;GUCD1,downstream_gene_variant,,ENST00000404664,;GUCD1,downstream_gene_variant,,ENST00000402766,;GUCD1,downstream_gene_variant,,ENST00000447813,;GUCD1,intron_variant,,ENST00000490922,;GUCD1,downstream_gene_variant,,ENST00000493099,;GUCD1,intron_variant,,ENST00000398245,;GUCD1,downstream_gene_variant,,ENST00000480272,;	2799	56	84	SUCCESS
LBH	81606	.	GRCh37	2	30480502	30480502	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	38	0	ENST00000395323.3:c.*15C>A			ENST00000395323	NM_030915.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33173.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACTCCCATG	NONE	.	.	.	.	.	ENSP00000378733	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000395323	Transcript	.	.	ENSG00000213626	29532	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LBH_HUMAN	LBH	HGNC	F8WC18_HUMAN,B5MBX5_HUMAN	.	UPI0000034E08	SNV	LBH,3_prime_UTR_variant,,ENST00000401506,;LBH,3_prime_UTR_variant,,ENST00000395323,;LBH,3_prime_UTR_variant,,ENST00000406087,;LBH,3_prime_UTR_variant,,ENST00000407930,;LBH,intron_variant,,ENST00000404397,;LBH,non_coding_transcript_exon_variant,,ENST00000467242,;LBH,non_coding_transcript_exon_variant,,ENST00000484150,;LBH,downstream_gene_variant,,ENST00000464412,;LBH,downstream_gene_variant,,ENST00000412933,;AC104698.1,upstream_gene_variant,,ENST00000541067,;	541	38	44	SUCCESS
VTA1	51534	.	GRCh37	6	142539830	142539830	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	2	8	16	0	ENST00000367630.4:c.*50C>T			ENST00000367630	NM_016485.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5197.1	.	RADIA|MUTECT|MUSE	.	ACAGTCCATTA	NONE	.	.	.	.	.	ENSP00000356602	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000367630	Transcript	.	.	ENSG00000009844	20954	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	VTA1_HUMAN	VTA1	HGNC	.	.	UPI0000034E19	SNV	VTA1,3_prime_UTR_variant,,ENST00000367630,;VTA1,3_prime_UTR_variant,,ENST00000452973,;VTA1,3_prime_UTR_variant,,ENST00000367621,;	1032	16	10	SUCCESS
RANP1	221547	.	GRCh37	6	30458995	30458995	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	100	55	123	0				ENST00000455094		231		0	.	.	.	.	.	G	P/R	protein_coding	YES	CCDS34379.1	692	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTACCCTGCGG	NONE	.	.	PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF133,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726	.	.	ENSP00000365817	.	4/8	.	.	.	.	.	.	.	.	.	4/8	PASS	ENST00000376630	Transcript	.	.	ENSG00000204592	4962	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	.	HLA-E	HGNC	Q9TNU8_HUMAN,Q9MW44_HUMAN,Q7Z367_HUMAN,Q6KBZ5_HUMAN,Q6DU44_HUMAN,Q59EE1_HUMAN,Q30168_HUMAN,Q2L6I5_HUMAN,Q29896_HUMAN,O19744_HUMAN,O19683_HUMAN,O19682_HUMAN,I3RW89_HUMAN,E2G051_HUMAN	.	UPI000000DD70	SNV	HLA-E,missense_variant,p.Pro231Arg,ENST00000376630,;HLA-E,non_coding_transcript_exon_variant,,ENST00000493699,;HLA-E,downstream_gene_variant,,ENST00000484194,;RANP1,downstream_gene_variant,,ENST00000437856,;RANP1,downstream_gene_variant,,ENST00000455094,;	757	123	155	SUCCESS
CHRM2	1129	.	GRCh37	7	136701056	136701056	+	downstream_gene_variant	3'Flank	SNP	G	G	T	rs550038279	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	163	53	155	0				ENST00000320658	NM_001006632.1			0	.	C:0	.	C:0	.	T	.	protein_coding	YES	CCDS5843.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGAGAAGAA	NONE	byFrequency|byCluster|by1000G	.	.	C:0	.	ENSP00000399745	C:0	3/3	.	.	.	.	.	.	.	.	rs550038279	3/3	PASS	ENST00000445907	Transcript	.	C:0.0010	ENSG00000181072	1951	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.0051	.	.	ACM2_HUMAN	CHRM2	HGNC	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN	.	UPI0000050410	SNV	CHRM2,3_prime_UTR_variant,,ENST00000401861,;CHRM2,3_prime_UTR_variant,,ENST00000397608,;CHRM2,3_prime_UTR_variant,,ENST00000402486,;CHRM2,3_prime_UTR_variant,,ENST00000453373,;CHRM2,3_prime_UTR_variant,,ENST00000445907,;CHRM2,downstream_gene_variant,,ENST00000320658,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000592183,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000439694,;	1972	155	216	SUCCESS
RP11-435O5.4	0	.	GRCh37	9	98278803	98278803	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	64	0				ENST00000604650				0	.	.	.	.	.	T	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACGCTGGGC	NONE	.	2001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000604650	Transcript	.	.	ENSG00000271659	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-435O5.4	Clone_based_vega_gene	.	.	.	SNV	PTCH1,5_prime_UTR_variant,,ENST00000430669,;PTCH1,5_prime_UTR_variant,,ENST00000468211,;PTCH1,5_prime_UTR_variant,,ENST00000437951,;PTCH1,intron_variant,,ENST00000375274,;RP11-435O5.4,downstream_gene_variant,,ENST00000604650,;PTCH1,non_coding_transcript_exon_variant,,ENST00000551425,;PTCH1,intron_variant,,ENST00000551623,;	.	64	47	SUCCESS
RHOXF1	158800	.	GRCh37	X	119243102	119243102	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	7	14	0	ENST00000217999.2:c.*48T>C			ENST00000217999	NM_139282.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14593.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCAGAAAAAC	NONE	.	.	.	.	.	ENSP00000217999	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000217999	Transcript	.	.	ENSG00000101883	29993	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHXF1_HUMAN	RHOXF1	HGNC	.	.	UPI0000046608	SNV	RHOXF1,3_prime_UTR_variant,,ENST00000217999,;RP4-755D9.1,intron_variant,,ENST00000553843,;	678	14	26	SUCCESS
FAM127C	0	.	GRCh37	X	134155960	134155960	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A2QR-01	TCGA-FV-A2QR-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	19	13	0	ENST00000391440.1:c.*188C>A			ENST00000391440	NM_001078173.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43996.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGAGCCTGG	NONE	.	.	.	.	.	ENSP00000375268	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391440	Transcript	.	.	ENSG00000212747	33156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F127C_HUMAN	FAM127C	HGNC	.	.	UPI00001613F2	SNV	FAM127C,3_prime_UTR_variant,,ENST00000391440,;	600	13	34	SUCCESS
ANPEP	290	.	GRCh37	15	90328301	90328301	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	18	0	ENST00000300060.6:c.*279C>G			ENST00000300060	NM_001150.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10356.1	.	MUTECT|MUSE	.	AGCTGGGCTTC	NONE	.	.	.	.	.	ENSP00000300060	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000300060	Transcript	.	.	ENSG00000166825	500	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AMPN_HUMAN	ANPEP	HGNC	Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN	.	UPI00001AECCF	SNV	ANPEP,3_prime_UTR_variant,,ENST00000300060,;	3497	18	8	SUCCESS
FAM96B	0	.	GRCh37	16	66966059	66966059	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	9	20	0	ENST00000422424.2:c.*47G>A			ENST00000422424	NM_016062.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGCTGGGA	NONE	.	.	.	.	.	ENSP00000387471	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000422424	Transcript	.	.	ENSG00000166595	24261	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MIP18_HUMAN	FAM96B	HGNC	J3QLT9_HUMAN	.	UPI0000034E0D	SNV	FAM96B,3_prime_UTR_variant,,ENST00000567511,;FAM96B,3_prime_UTR_variant,,ENST00000568572,;FAM96B,3_prime_UTR_variant,,ENST00000422424,;CES2,upstream_gene_variant,,ENST00000317091,;CES2,upstream_gene_variant,,ENST00000566182,;CES2,upstream_gene_variant,,ENST00000417689,;CES2,upstream_gene_variant,,ENST00000561697,;FAM96B,3_prime_UTR_variant,,ENST00000562362,;CES2,upstream_gene_variant,,ENST00000570032,;FAM96B,downstream_gene_variant,,ENST00000569299,;CES2,upstream_gene_variant,,ENST00000568470,;FAM96B,downstream_gene_variant,,ENST00000563490,;CES2,upstream_gene_variant,,ENST00000566359,;	575	20	17	SUCCESS
HOXB13	10481	.	GRCh37	17	46804132	46804132	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1597932311	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	18	67	0	ENST00000290295.7:c.*20G>A			ENST00000290295	NM_006361.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCACCCA	NONE	.	.	.	.	.	ENSP00000290295	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000290295	Transcript	.	.	ENSG00000159184	5112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXB13_HUMAN	HOXB13	HGNC	.	.	UPI000006F288	SNV	HOXB13,3_prime_UTR_variant,,ENST00000290295,;PRAC1,upstream_gene_variant,,ENST00000290294,;MIR3185,upstream_gene_variant,,ENST00000583892,;PRAC2,downstream_gene_variant,,ENST00000432056,;PRAC2,downstream_gene_variant,,ENST00000422730,;	1460	67	51	SUCCESS
TMEM140	55281	.	GRCh37	7	134850410	134850410	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	14	77	0	ENST00000275767.3:c.*659C>T			ENST00000275767	NM_018295.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5837.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACTCCCATG	NONE	.	.	.	.	.	ENSP00000275767	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000275767	Transcript	.	.	ENSG00000146859	21870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM140_HUMAN	TMEM140	HGNC	.	.	UPI000045760C	SNV	TMEM140,3_prime_UTR_variant,,ENST00000275767,;C7orf49,downstream_gene_variant,,ENST00000424142,;C7orf49,downstream_gene_variant,,ENST00000430372,;C7orf49,downstream_gene_variant,,ENST00000393114,;C7orf49,downstream_gene_variant,,ENST00000483029,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000477820,;C7orf49,downstream_gene_variant,,ENST00000472428,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;C7orf49,downstream_gene_variant,,ENST00000481410,;	1440	77	86	SUCCESS
SDR16C5	195814	.	GRCh37	8	57213992	57213992	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A3I0-01	TCGA-FV-A3I0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	72	0	ENST00000303749.3:c.*47T>A			ENST00000303749	NM_138969.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6167.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGCATTATG	NONE	.	.	.	.	.	ENSP00000307607	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000303749	Transcript	.	.	ENSG00000170786	30311	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDHE2_HUMAN	SDR16C5	HGNC	.	.	UPI000013E8E3	SNV	SDR16C5,3_prime_UTR_variant,,ENST00000522671,;SDR16C5,3_prime_UTR_variant,,ENST00000396721,;SDR16C5,3_prime_UTR_variant,,ENST00000303749,;	1615	72	72	SUCCESS
TMEM86A	144110	.	GRCh37	11	18723581	18723581	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	44	0	ENST00000280734.2:c.*25T>A			ENST00000280734	NM_153347.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7844.1	.	MUTECT|MUSE|VARSCANS	.	CCCTCTCTCCT	NONE	.	.	.	.	.	ENSP00000280734	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000280734	Transcript	.	.	ENSG00000151117	26890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM86A_HUMAN	TMEM86A	HGNC	.	.	UPI0000073C65	SNV	TMEM86A,3_prime_UTR_variant,,ENST00000280734,;IGSF22,downstream_gene_variant,,ENST00000513874,;RP11-1081L13.4,upstream_gene_variant,,ENST00000527285,;TMEM86A,downstream_gene_variant,,ENST00000527002,;TMEM86A,downstream_gene_variant,,ENST00000524888,;TMEM86A,downstream_gene_variant,,ENST00000529240,;IGSF22,downstream_gene_variant,,ENST00000510673,;TMEM86A,downstream_gene_variant,,ENST00000533987,;IGSF22,downstream_gene_variant,,ENST00000319338,;	844	45	31	SUCCESS
RFNG	5986	.	GRCh37	17	80006463	80006463	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	8	0	ENST00000310496.4:c.*139C>T			ENST00000310496	NM_002917.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32773.1	.	MUTECT|MUSE	.	TGCAGGCTAGC	NONE	.	.	.	.	.	ENSP00000307971	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000310496	Transcript	.	.	ENSG00000169733	9974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFNG_HUMAN	RFNG	HGNC	J3QLN0_HUMAN,F5H3H7_HUMAN	.	UPI00001A6F5D	SNV	RFNG,3_prime_UTR_variant,,ENST00000310496,;RFNG,3_prime_UTR_variant,,ENST00000429557,;GPS1,upstream_gene_variant,,ENST00000583641,;GPS1,upstream_gene_variant,,ENST00000392358,;GPS1,upstream_gene_variant,,ENST00000578552,;GPS1,upstream_gene_variant,,ENST00000583009,;GPS1,upstream_gene_variant,,ENST00000320548,;GPS1,upstream_gene_variant,,ENST00000581418,;GPS1,upstream_gene_variant,,ENST00000581578,;RFNG,downstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000580716,;GPS1,upstream_gene_variant,,ENST00000355130,;GPS1,upstream_gene_variant,,ENST00000583961,;GPS1,upstream_gene_variant,,ENST00000582327,;GPS1,upstream_gene_variant,,ENST00000306823,;GPS1,upstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000585084,;RFNG,downstream_gene_variant,,ENST00000580928,;GPS1,upstream_gene_variant,,ENST00000584229,;GPS1,upstream_gene_variant,,ENST00000583983,;RFNG,downstream_gene_variant,,ENST00000584838,;RFNG,non_coding_transcript_exon_variant,,ENST00000582478,;RFNG,non_coding_transcript_exon_variant,,ENST00000580953,;RFNG,non_coding_transcript_exon_variant,,ENST00000583784,;RFNG,non_coding_transcript_exon_variant,,ENST00000578676,;RFNG,non_coding_transcript_exon_variant,,ENST00000580793,;RFNG,downstream_gene_variant,,ENST00000584515,;GPS1,upstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000584460,;GPS1,upstream_gene_variant,,ENST00000580627,;RFNG,downstream_gene_variant,,ENST00000584463,;GPS1,upstream_gene_variant,,ENST00000578642,;GPS1,upstream_gene_variant,,ENST00000580723,;GPS1,upstream_gene_variant,,ENST00000578392,;	1143	8	12	SUCCESS
RFNG	5986	.	GRCh37	17	80006467	80006467	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	8	0	ENST00000310496.4:c.*135C>A			ENST00000310496	NM_002917.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32773.1	.	MUTECT|MUSE	.	GGCTAGCCAGA	NONE	.	.	.	.	.	ENSP00000307971	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000310496	Transcript	.	.	ENSG00000169733	9974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RFNG_HUMAN	RFNG	HGNC	J3QLN0_HUMAN,F5H3H7_HUMAN	.	UPI00001A6F5D	SNV	RFNG,3_prime_UTR_variant,,ENST00000310496,;RFNG,3_prime_UTR_variant,,ENST00000429557,;GPS1,upstream_gene_variant,,ENST00000583641,;GPS1,upstream_gene_variant,,ENST00000392358,;GPS1,upstream_gene_variant,,ENST00000578552,;GPS1,upstream_gene_variant,,ENST00000583009,;GPS1,upstream_gene_variant,,ENST00000320548,;GPS1,upstream_gene_variant,,ENST00000581418,;GPS1,upstream_gene_variant,,ENST00000581578,;RFNG,downstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000580716,;GPS1,upstream_gene_variant,,ENST00000355130,;GPS1,upstream_gene_variant,,ENST00000583961,;GPS1,upstream_gene_variant,,ENST00000582327,;GPS1,upstream_gene_variant,,ENST00000306823,;GPS1,upstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000585084,;RFNG,downstream_gene_variant,,ENST00000580928,;GPS1,upstream_gene_variant,,ENST00000584229,;GPS1,upstream_gene_variant,,ENST00000583983,;RFNG,downstream_gene_variant,,ENST00000584838,;RFNG,non_coding_transcript_exon_variant,,ENST00000582478,;RFNG,non_coding_transcript_exon_variant,,ENST00000580953,;RFNG,non_coding_transcript_exon_variant,,ENST00000583784,;RFNG,non_coding_transcript_exon_variant,,ENST00000578676,;RFNG,non_coding_transcript_exon_variant,,ENST00000580793,;RFNG,downstream_gene_variant,,ENST00000584515,;GPS1,upstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000584460,;GPS1,upstream_gene_variant,,ENST00000580627,;RFNG,downstream_gene_variant,,ENST00000584463,;GPS1,upstream_gene_variant,,ENST00000578642,;GPS1,upstream_gene_variant,,ENST00000580723,;GPS1,upstream_gene_variant,,ENST00000578392,;	1139	8	13	SUCCESS
VAMP4	8674	.	GRCh37	1	171673636	171673636	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	78	248	0	ENST00000236192.7:c.*10A>G			ENST00000236192	NM_003762.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1298.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGTCAT	NONE	.	.	.	.	.	ENSP00000236192	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000236192	Transcript	.	.	ENSG00000117533	12645	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VAMP4_HUMAN	VAMP4	HGNC	Q6IAZ3_HUMAN	.	UPI00000015F3	SNV	VAMP4,3_prime_UTR_variant,,ENST00000236192,;VAMP4,3_prime_UTR_variant,,ENST00000367740,;VAMP4,3_prime_UTR_variant,,ENST00000415773,;VAMP4,downstream_gene_variant,,ENST00000482519,;VAMP4,3_prime_UTR_variant,,ENST00000474047,;	823	248	337	SUCCESS
LSM14B	149986	.	GRCh37	20	60709443	60709443	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs922354997	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	52	157	0	ENST00000279068.6:c.*239C>T			ENST00000279068	NM_144703.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46626.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTTCCTTTT	NONE	.	.	.	.	.	ENSP00000279068	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000279068	Transcript	.	.	ENSG00000149657	15887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LS14B_HUMAN	LSM14B	HGNC	.	.	UPI0000073028	SNV	LSM14B,3_prime_UTR_variant,,ENST00000279068,;LSM14B,3_prime_UTR_variant,,ENST00000253001,;PSMA7,downstream_gene_variant,,ENST00000370858,;LSM14B,downstream_gene_variant,,ENST00000361670,;LSM14B,downstream_gene_variant,,ENST00000279069,;LSM14B,downstream_gene_variant,,ENST00000400318,;PSMA7,downstream_gene_variant,,ENST00000370861,;PSMA7,downstream_gene_variant,,ENST00000370873,;PSMA7,downstream_gene_variant,,ENST00000442551,;PSMA7,downstream_gene_variant,,ENST00000484488,;PSMA7,downstream_gene_variant,,ENST00000486193,;	1557	158	170	SUCCESS
OLIG2	10215	.	GRCh37	21	34400920	34400920	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	35	109	0	ENST00000333337.3:c.*778A>C			ENST00000333337				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13620.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATAACCCAA	NONE	.	.	.	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,3_prime_UTR_variant,,ENST00000382357,;OLIG2,3_prime_UTR_variant,,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	2678	109	130	SUCCESS
CD86	942	.	GRCh37	3	121838444	121838444	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	81	0	ENST00000330540.2:c.*63C>T			ENST00000330540	NM_175862.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3009.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCAACCT	NONE	.	.	.	.	.	ENSP00000332049	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000330540	Transcript	.	.	ENSG00000114013	1705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD86_HUMAN	CD86	HGNC	C9JXS1_HUMAN	.	UPI00001AFC7C	SNV	CD86,3_prime_UTR_variant,,ENST00000330540,;CD86,3_prime_UTR_variant,,ENST00000393627,;CD86,3_prime_UTR_variant,,ENST00000469710,;CD86,3_prime_UTR_variant,,ENST00000264468,;CD86,3_prime_UTR_variant,,ENST00000493101,;CD86,downstream_gene_variant,,ENST00000478741,;	1169	81	95	SUCCESS
SOWAHB	345079	.	GRCh37	4	77816394	77816394	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	23	0	ENST00000334306.2:c.*227C>G			ENST00000334306	NM_001029870.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34017.1	.	MUTECT|MUSE	.	CACCTGGCCCC	NONE	.	.	.	.	.	ENSP00000334879	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334306	Transcript	.	.	ENSG00000186212	32958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SWAHB_HUMAN	SOWAHB	HGNC	.	.	UPI000019777A	SNV	SOWAHB,3_prime_UTR_variant,,ENST00000334306,;RP11-123J14.1,downstream_gene_variant,,ENST00000485829,;	2609	23	34	SUCCESS
TMEM86A	144110	.	GRCh37	11	18723581	18723581	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	29	0	ENST00000280734.2:c.*25T>A			ENST00000280734	NM_153347.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7844.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTCTCTCCT	NONE	.	.	.	.	.	ENSP00000280734	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000280734	Transcript	.	.	ENSG00000151117	26890	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM86A_HUMAN	TMEM86A	HGNC	.	.	UPI0000073C65	SNV	TMEM86A,3_prime_UTR_variant,,ENST00000280734,;IGSF22,downstream_gene_variant,,ENST00000513874,;RP11-1081L13.4,upstream_gene_variant,,ENST00000527285,;TMEM86A,downstream_gene_variant,,ENST00000527002,;TMEM86A,downstream_gene_variant,,ENST00000524888,;TMEM86A,downstream_gene_variant,,ENST00000529240,;IGSF22,downstream_gene_variant,,ENST00000510673,;TMEM86A,downstream_gene_variant,,ENST00000533987,;IGSF22,downstream_gene_variant,,ENST00000319338,;	844	29	31	SUCCESS
RFNG	5986	.	GRCh37	17	80006463	80006463	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	13	0	ENST00000310496.4:c.*139C>T			ENST00000310496	NM_002917.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32773.1	.	RADIA|MUTECT|MUSE	.	TGCAGGCTAGC	NONE	.	.	.	.	.	ENSP00000307971	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000310496	Transcript	.	.	ENSG00000169733	9974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RFNG_HUMAN	RFNG	HGNC	J3QLN0_HUMAN,F5H3H7_HUMAN	.	UPI00001A6F5D	SNV	RFNG,3_prime_UTR_variant,,ENST00000310496,;RFNG,3_prime_UTR_variant,,ENST00000429557,;GPS1,upstream_gene_variant,,ENST00000583641,;GPS1,upstream_gene_variant,,ENST00000392358,;GPS1,upstream_gene_variant,,ENST00000578552,;GPS1,upstream_gene_variant,,ENST00000583009,;GPS1,upstream_gene_variant,,ENST00000320548,;GPS1,upstream_gene_variant,,ENST00000581418,;GPS1,upstream_gene_variant,,ENST00000581578,;RFNG,downstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000580716,;GPS1,upstream_gene_variant,,ENST00000355130,;GPS1,upstream_gene_variant,,ENST00000583961,;GPS1,upstream_gene_variant,,ENST00000582327,;GPS1,upstream_gene_variant,,ENST00000306823,;GPS1,upstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000585084,;RFNG,downstream_gene_variant,,ENST00000580928,;GPS1,upstream_gene_variant,,ENST00000584229,;GPS1,upstream_gene_variant,,ENST00000583983,;RFNG,downstream_gene_variant,,ENST00000584838,;RFNG,non_coding_transcript_exon_variant,,ENST00000582478,;RFNG,non_coding_transcript_exon_variant,,ENST00000580953,;RFNG,non_coding_transcript_exon_variant,,ENST00000583784,;RFNG,non_coding_transcript_exon_variant,,ENST00000578676,;RFNG,non_coding_transcript_exon_variant,,ENST00000580793,;RFNG,downstream_gene_variant,,ENST00000584515,;GPS1,upstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000584460,;GPS1,upstream_gene_variant,,ENST00000580627,;RFNG,downstream_gene_variant,,ENST00000584463,;GPS1,upstream_gene_variant,,ENST00000578642,;GPS1,upstream_gene_variant,,ENST00000580723,;GPS1,upstream_gene_variant,,ENST00000578392,;	1143	13	12	SUCCESS
RFNG	5986	.	GRCh37	17	80006467	80006467	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	13	0	ENST00000310496.4:c.*135C>A			ENST00000310496	NM_002917.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32773.1	.	RADIA|MUTECT|MUSE	.	GGCTAGCCAGA	NONE	.	.	.	.	.	ENSP00000307971	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000310496	Transcript	.	.	ENSG00000169733	9974	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RFNG_HUMAN	RFNG	HGNC	J3QLN0_HUMAN,F5H3H7_HUMAN	.	UPI00001A6F5D	SNV	RFNG,3_prime_UTR_variant,,ENST00000310496,;RFNG,3_prime_UTR_variant,,ENST00000429557,;GPS1,upstream_gene_variant,,ENST00000583641,;GPS1,upstream_gene_variant,,ENST00000392358,;GPS1,upstream_gene_variant,,ENST00000578552,;GPS1,upstream_gene_variant,,ENST00000583009,;GPS1,upstream_gene_variant,,ENST00000320548,;GPS1,upstream_gene_variant,,ENST00000581418,;GPS1,upstream_gene_variant,,ENST00000581578,;RFNG,downstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000580716,;GPS1,upstream_gene_variant,,ENST00000355130,;GPS1,upstream_gene_variant,,ENST00000583961,;GPS1,upstream_gene_variant,,ENST00000582327,;GPS1,upstream_gene_variant,,ENST00000306823,;GPS1,upstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000585084,;RFNG,downstream_gene_variant,,ENST00000580928,;GPS1,upstream_gene_variant,,ENST00000584229,;GPS1,upstream_gene_variant,,ENST00000583983,;RFNG,downstream_gene_variant,,ENST00000584838,;RFNG,non_coding_transcript_exon_variant,,ENST00000582478,;RFNG,non_coding_transcript_exon_variant,,ENST00000580953,;RFNG,non_coding_transcript_exon_variant,,ENST00000583784,;RFNG,non_coding_transcript_exon_variant,,ENST00000578676,;RFNG,non_coding_transcript_exon_variant,,ENST00000580793,;RFNG,downstream_gene_variant,,ENST00000584515,;GPS1,upstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000584460,;GPS1,upstream_gene_variant,,ENST00000580627,;RFNG,downstream_gene_variant,,ENST00000584463,;GPS1,upstream_gene_variant,,ENST00000578642,;GPS1,upstream_gene_variant,,ENST00000580723,;GPS1,upstream_gene_variant,,ENST00000578392,;	1139	13	13	SUCCESS
VAMP4	8674	.	GRCh37	1	171673636	171673636	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	259	78	242	0	ENST00000236192.7:c.*10A>G			ENST00000236192	NM_003762.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1298.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATCTCTGTCAT	NONE	.	.	.	.	.	ENSP00000236192	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000236192	Transcript	.	.	ENSG00000117533	12645	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VAMP4_HUMAN	VAMP4	HGNC	Q6IAZ3_HUMAN	.	UPI00000015F3	SNV	VAMP4,3_prime_UTR_variant,,ENST00000236192,;VAMP4,3_prime_UTR_variant,,ENST00000367740,;VAMP4,3_prime_UTR_variant,,ENST00000415773,;VAMP4,downstream_gene_variant,,ENST00000482519,;VAMP4,3_prime_UTR_variant,,ENST00000474047,;	823	242	337	SUCCESS
LSM14B	149986	.	GRCh37	20	60709443	60709443	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs922354997	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	52	135	0	ENST00000279068.6:c.*239C>T			ENST00000279068	NM_144703.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46626.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTTCCTTTT	NONE	.	.	.	.	.	ENSP00000279068	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000279068	Transcript	.	.	ENSG00000149657	15887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LS14B_HUMAN	LSM14B	HGNC	.	.	UPI0000073028	SNV	LSM14B,3_prime_UTR_variant,,ENST00000279068,;LSM14B,3_prime_UTR_variant,,ENST00000253001,;PSMA7,downstream_gene_variant,,ENST00000370858,;LSM14B,downstream_gene_variant,,ENST00000361670,;LSM14B,downstream_gene_variant,,ENST00000279069,;LSM14B,downstream_gene_variant,,ENST00000400318,;PSMA7,downstream_gene_variant,,ENST00000370861,;PSMA7,downstream_gene_variant,,ENST00000370873,;PSMA7,downstream_gene_variant,,ENST00000442551,;PSMA7,downstream_gene_variant,,ENST00000484488,;PSMA7,downstream_gene_variant,,ENST00000486193,;	1557	135	170	SUCCESS
OLIG2	10215	.	GRCh37	21	34400920	34400920	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	35	119	0	ENST00000333337.3:c.*778A>C			ENST00000333337				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13620.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATAACCCAA	NONE	.	.	.	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,3_prime_UTR_variant,,ENST00000382357,;OLIG2,3_prime_UTR_variant,,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	2678	119	130	SUCCESS
CD86	942	.	GRCh37	3	121838444	121838444	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	59	35	75	0	ENST00000330540.2:c.*63C>T			ENST00000330540	NM_175862.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3009.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGGCAACCT	NONE	.	.	.	.	.	ENSP00000332049	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000330540	Transcript	.	.	ENSG00000114013	1705	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD86_HUMAN	CD86	HGNC	C9JXS1_HUMAN	.	UPI00001AFC7C	SNV	CD86,3_prime_UTR_variant,,ENST00000330540,;CD86,3_prime_UTR_variant,,ENST00000393627,;CD86,3_prime_UTR_variant,,ENST00000469710,;CD86,3_prime_UTR_variant,,ENST00000264468,;CD86,3_prime_UTR_variant,,ENST00000493101,;CD86,downstream_gene_variant,,ENST00000478741,;	1169	75	95	SUCCESS
SOWAHB	345079	.	GRCh37	4	77816394	77816394	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A3I1-01	TCGA-FV-A3I1-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	34	0	ENST00000334306.2:c.*227C>G			ENST00000334306	NM_001029870.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34017.1	.	MUTECT|MUSE	.	CACCTGGCCCC	NONE	.	.	.	.	.	ENSP00000334879	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000334306	Transcript	.	.	ENSG00000186212	32958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SWAHB_HUMAN	SOWAHB	HGNC	.	.	UPI000019777A	SNV	SOWAHB,3_prime_UTR_variant,,ENST00000334306,;RP11-123J14.1,downstream_gene_variant,,ENST00000485829,;	2609	34	34	SUCCESS
SNCG	6623	.	GRCh37	10	88718402	88718411	+	upstream_gene_variant	5'Flank	DEL	CAGGGAGATC	CAGGGAGATC	-	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	CAGGGAGATC	CAGGGAGATC	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	27	0				ENST00000372017	NM_003087.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7380.1	.	INDELOCATOR*|PINDEL	.	AGCTCGCAGGGAGATCCAGCT	NONE	.	2	.	.	.	ENSP00000361087	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372017	Transcript	.	.	ENSG00000173267	11141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYUG_HUMAN	SNCG	HGNC	Q6FHG5_HUMAN	.	UPI0000169F48	deletion	SNCG,5_prime_UTR_variant,,ENST00000348795,;MMRN2,intron_variant,,ENST00000474994,;MMRN2,intron_variant,,ENST00000609457,;MMRN2,upstream_gene_variant,,ENST00000372027,;SNCG,upstream_gene_variant,,ENST00000372017,;MMRN2,upstream_gene_variant,,ENST00000610081,;SNCG,non_coding_transcript_exon_variant,,ENST00000465679,;SNCG,upstream_gene_variant,,ENST00000483064,;MMRN2,upstream_gene_variant,,ENST00000608090,;MMRN2,upstream_gene_variant,,ENST00000608753,;	.	27	25	SUCCESS
DDX23	9416	.	GRCh37	12	49224057	49224057	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs193264880	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	25	1	ENST00000308025.3:c.*195G>T			ENST00000308025	NM_004818.2			0	.	T:0	.	T:0.0043	.	A	.	protein_coding	YES	CCDS8770.1	.	MUTECT|MUSE	.	GCCTCCGACAG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000310723	T:0	17/17	.	.	.	.	.	.	.	.	rs193264880	17/17	PASS	ENST00000308025	Transcript	.	T:0.0006	ENSG00000174243	17347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	DDX23_HUMAN	DDX23	HGNC	F8W1J5_HUMAN,F8VVA2_HUMAN,B3KY11_HUMAN	.	UPI0000073875	SNV	DDX23,stop_gained,p.Gly218Ter,ENST00000550834,;DDX23,3_prime_UTR_variant,,ENST00000308025,;CACNB3,downstream_gene_variant,,ENST00000547392,;CACNB3,downstream_gene_variant,,ENST00000550064,;CACNB3,downstream_gene_variant,,ENST00000301050,;CACNB3,downstream_gene_variant,,ENST00000536187,;CACNB3,downstream_gene_variant,,ENST00000547818,;CACNB3,downstream_gene_variant,,ENST00000550190,;CACNB3,downstream_gene_variant,,ENST00000547230,;CACNB3,downstream_gene_variant,,ENST00000540990,;CACNB3,downstream_gene_variant,,ENST00000552480,;DDX23,downstream_gene_variant,,ENST00000552802,;DDX23,downstream_gene_variant,,ENST00000551331,;DDX23,downstream_gene_variant,,ENST00000547842,;DDX23,downstream_gene_variant,,ENST00000547135,;DDX23,downstream_gene_variant,,ENST00000547290,;CACNB3,downstream_gene_variant,,ENST00000548860,;CACNB3,downstream_gene_variant,,ENST00000550391,;CACNB3,downstream_gene_variant,,ENST00000548874,;CACNB3,downstream_gene_variant,,ENST00000551544,;CACNB3,downstream_gene_variant,,ENST00000550483,;DDX23,downstream_gene_variant,,ENST00000553065,;DDX23,downstream_gene_variant,,ENST00000549795,;	2738	26	13	SUCCESS
MIR3186	100422944	.	GRCh37	17	79414623	79414623	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs1555654915	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	26	0				ENST00000577404		1242		0	.	.	.	.	.	G	E/G	protein_coding	YES	.	3725	MUTECT|MUSE	.	AGAGGAGGACT	NONE	.	.	hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22	.	.	ENSP00000303486	.	15/32	.	.	.	.	.	.	.	.	.	15/32	PASS	ENST00000307745	Transcript	.	.	ENSG00000171282	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.004)	.	.	.	.	RP11-1055B8.7	Clone_based_vega_gene	J3QLH5_HUMAN,F8WBW8_HUMAN	.	UPI0001AE66BF	SNV	RP11-1055B8.7,missense_variant,p.Glu1154Gly,ENST00000571813,;RP11-1055B8.7,missense_variant,p.Glu1242Gly,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;RP11-1055B8.7,downstream_gene_variant,,ENST00000570375,;	3725	26	32	SUCCESS
NTF6A	4910	.	GRCh37	19	49527384	49527384	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	15	24	0				ENST00000591175				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12749.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGCTCAGCGG	NONE	.	.	.	.	.	ENSP00000349954	.	1/3	.	.	.	.	.	.	.	.	.	1/3	PASS	ENST00000357383	Transcript	.	.	ENSG00000104827	1886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CGB2_HUMAN,CGHB_HUMAN	CGB	HGNC	K7ELM3_HUMAN,J3KNZ1_HUMAN	.	UPI0000035497	SNV	CGB,5_prime_UTR_variant,,ENST00000357383,;CTB-60B18.6,intron_variant,,ENST00000604577,;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.10,upstream_gene_variant,,ENST00000600007,;NTF6A,downstream_gene_variant,,ENST00000591175,;	207	24	32	SUCCESS
SMYD3	64754	.	GRCh37	1	245912786	245912786	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	24	59	1				ENST00000388985				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53486.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGCTAACA	NONE	.	79	.	.	.	ENSP00000373637	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000388985	Transcript	.	.	ENSG00000185420	15513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMYD3_HUMAN	SMYD3	HGNC	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN	.	UPI000022AFDA	SNV	SMYD3,3_prime_UTR_variant,,ENST00000541742,;SMYD3,3_prime_UTR_variant,,ENST00000490107,;SMYD3,downstream_gene_variant,,ENST00000388985,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470510,;SMYD3,non_coding_transcript_exon_variant,,ENST00000482592,;SMYD3,non_coding_transcript_exon_variant,,ENST00000490322,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366517,;SMYD3,non_coding_transcript_exon_variant,,ENST00000483072,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366516,;	.	60	58	SUCCESS
BPIFA3	128861	.	GRCh37	20	31815433	31815433	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	20	19	0	ENST00000375454.3:c.*10A>C			ENST00000375454	NM_178466.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13216.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCTGATCAGA	NONE	.	.	.	.	.	ENSP00000364603	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000375454	Transcript	.	.	ENSG00000131059	16204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BPIA3_HUMAN	BPIFA3	HGNC	.	.	UPI00003E72D6	SNV	BPIFA3,3_prime_UTR_variant,,ENST00000375454,;BPIFA3,3_prime_UTR_variant,,ENST00000375452,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;	985	19	39	SUCCESS
HS6ST1	9394	.	GRCh37	2	129025675	129025675	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	18	0	ENST00000259241.6:c.*61A>G			ENST00000259241	NM_004807.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42748.1	.	MUTECT|MUSE	.	ACCTGTCGTCT	NONE	.	.	.	.	.	ENSP00000259241	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000259241	Transcript	.	.	ENSG00000136720	5201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H6ST1_HUMAN	HS6ST1	HGNC	B4E2L3_HUMAN	.	UPI0000D61231	SNV	HS6ST1,3_prime_UTR_variant,,ENST00000259241,;HS6ST1,intron_variant,,ENST00000469019,;HS6ST1,downstream_gene_variant,,ENST00000463963,;	1311	18	17	SUCCESS
SSR3	6747	.	GRCh37	3	156260852	156260852	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs777367137	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	13	15	0	ENST00000265044.2:c.*140G>A			ENST00000265044	NM_007107.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3176.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATACTGAAT	NONE	.	.	.	.	.	ENSP00000265044	.	5/5	.	.	.	.	.	.	.	.	rs777367137	5/5	PASS	ENST00000265044	Transcript	.	.	ENSG00000114850	11325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSRG_HUMAN	SSR3	HGNC	C9J365_HUMAN	.	UPI0000136005	SNV	SSR3,3_prime_UTR_variant,,ENST00000265044,;SSR3,3_prime_UTR_variant,,ENST00000467789,;SSR3,3_prime_UTR_variant,,ENST00000476217,;KCNAB1,downstream_gene_variant,,ENST00000471742,;KCNAB1,downstream_gene_variant,,ENST00000490337,;SSR3,downstream_gene_variant,,ENST00000463503,;SSR3,downstream_gene_variant,,ENST00000496050,;KCNAB1,downstream_gene_variant,,ENST00000302490,;SSR3,non_coding_transcript_exon_variant,,ENST00000464138,;SSR3,non_coding_transcript_exon_variant,,ENST00000478842,;SSR3,non_coding_transcript_exon_variant,,ENST00000498205,;SSR3,downstream_gene_variant,,ENST00000467733,;	793	15	38	SUCCESS
CARTPT	9607	.	GRCh37	5	71016537	71016537	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A3R2-01	TCGA-FV-A3R2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	58	0	ENST00000296777.4:c.*95A>G			ENST00000296777	NM_004291.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4011.1	.	MUTECT|MUSE	.	GATAAAGTTTT	NONE	.	.	.	.	.	ENSP00000296777	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000296777	Transcript	.	.	ENSG00000164326	24323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CART_HUMAN	CARTPT	HGNC	.	.	UPI00000015E9	SNV	CARTPT,3_prime_UTR_variant,,ENST00000296777,;CARTPT,non_coding_transcript_exon_variant,,ENST00000513096,;	577	58	63	SUCCESS
ZNF525	170958	.	GRCh37	19	53885992	53885992	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	5	34	0				ENST00000355326				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGTGATAAA	NONE	.	.	.	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,3_prime_UTR_variant,,ENST00000474037,;ZNF525,3_prime_UTR_variant,,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000355326,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	2294	34	44	SUCCESS
TIMM17A	10440	.	GRCh37	1	201938792	201938792	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1026095011	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	9	61	0	ENST00000367287.4:c.*110A>G			ENST00000367287	NM_006335.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1417.1	.	MUTECT|MUSE	.	GGCCAATAGGC	NONE	.	.	.	.	.	ENSP00000356256	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000367287	Transcript	.	.	ENSG00000134375	17315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TI17A_HUMAN	TIMM17A	HGNC	.	.	UPI000012D5E6	SNV	TIMM17A,3_prime_UTR_variant,,ENST00000367287,;TIMM17A,non_coding_transcript_exon_variant,,ENST00000482943,;TIMM17A,non_coding_transcript_exon_variant,,ENST00000478378,;	662	61	79	SUCCESS
ARID5A	10865	.	GRCh37	2	97218071	97218071	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs888926873	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	79	0	ENST00000357485.3:c.*21A>G			ENST00000357485	NM_212481.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33251.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTACACTG	NONE	.	.	.	.	.	ENSP00000350078	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000357485	Transcript	.	.	ENSG00000196843	17361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARI5A_HUMAN	ARID5A	HGNC	C9J1Q0_HUMAN	.	UPI00001C1DBB	SNV	ARID5A,3_prime_UTR_variant,,ENST00000357485,;ARID5A,3_prime_UTR_variant,,ENST00000454558,;ARID5A,3_prime_UTR_variant,,ENST00000412735,;ARID5A,non_coding_transcript_exon_variant,,ENST00000497920,;ARID5A,downstream_gene_variant,,ENST00000467498,;ARID5A,downstream_gene_variant,,ENST00000470579,;	1884	79	65	SUCCESS
ZNF445	353274	.	GRCh37	3	44487981	44487981	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1436278065	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	45	0	ENST00000396077.2:c.*86A>C			ENST00000396077	NM_181489.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2713.1	.	MUTECT|MUSE	.	CTTTATCAAAG	NONE	.	.	.	.	.	ENSP00000413073	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000425708	Transcript	.	.	ENSG00000185219	21018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN445_HUMAN	ZNF445	HGNC	B7ZKX2_HUMAN	.	UPI000019AD12	SNV	ZNF445,3_prime_UTR_variant,,ENST00000425708,;ZNF445,3_prime_UTR_variant,,ENST00000396077,;ZNF445,downstream_gene_variant,,ENST00000460529,;	3524	45	27	SUCCESS
FUT9	10690	.	GRCh37	6	96653035	96653035	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	152	12	168	0	ENST00000302103.5:c.*924T>C			ENST00000302103	NM_006581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5033.1	.	MUTECT|MUSE	.	TAAAATGGTCT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	2330	168	164	SUCCESS
OBP2A	29991	.	GRCh37	9	138441811	138441811	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1336177355	.	TCGA-FV-A3R3-01	TCGA-FV-A3R3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	8	45	1	ENST00000371776.1:c.*130C>T			ENST00000371776	NM_014582.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6992.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCCCCAG	NONE	.	19	.	.	.	ENSP00000441028	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539850	Transcript	.	.	ENSG00000122136	23380	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OBP2A_HUMAN	OBP2A	HGNC	.	.	UPI00000377BA	SNV	OBP2A,3_prime_UTR_variant,,ENST00000371776,;OBP2A,downstream_gene_variant,,ENST00000340780,;OBP2A,downstream_gene_variant,,ENST00000342114,;OBP2A,downstream_gene_variant,,ENST00000539850,;OBP2A,downstream_gene_variant,,ENST00000471886,;OBP2A,downstream_gene_variant,,ENST00000537747,;	.	46	41	SUCCESS
LRRC10B	390205	.	GRCh37	11	61277683	61277683	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	34	0	ENST00000378075.2:c.*334G>T			ENST00000378075	NM_001145077.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44621.1	.	MUTECT|MUSE	.	CCTGAGTCTGG	NONE	.	.	.	.	.	ENSP00000367315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378075	Transcript	.	.	ENSG00000204950	37215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LR10B_HUMAN	LRRC10B	HGNC	.	.	UPI00006C114B	SNV	LRRC10B,3_prime_UTR_variant,,ENST00000378075,;MIR4488,downstream_gene_variant,,ENST00000577388,;	1412	34	27	SUCCESS
FGF6	2251	.	GRCh37	12	4543375	4543375	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	54	157	0	ENST00000228837.2:c.*6C>A			ENST00000228837	NM_020996.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8527.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTGGGTCC	NONE	.	.	.	.	.	ENSP00000228837	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,3_prime_UTR_variant,,ENST00000228837,;FGF6,intron_variant,,ENST00000543077,;	677	157	191	SUCCESS
IGDCC3	9543	.	GRCh37	15	65621220	65621220	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs985288436	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	36	0	ENST00000327987.4:c.*27G>A			ENST00000327987	NM_004884.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10205.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGTCCACCCT	NONE	.	.	.	.	.	ENSP00000332773	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,3_prime_UTR_variant,,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	2724	36	35	SUCCESS
DCC	1630	.	GRCh37	18	51057189	51057189	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs533012177	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000442544.2:c.*166C>A			ENST00000442544	NM_005215.3			0	.	T:0	.	T:0.0029	.	A	.	protein_coding	YES	CCDS11952.1	.	RADIA|MUSE	.	GCATTCCTTCT	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000389140	T:0	29/29	.	.	.	.	.	.	.	.	rs533012177	29/29	PASS	ENST00000442544	Transcript	.	T:0.0004	ENSG00000187323	2701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,3_prime_UTR_variant,,ENST00000442544,;DCC,downstream_gene_variant,,ENST00000581580,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,downstream_gene_variant,,ENST00000577224,;DCC,downstream_gene_variant,,ENST00000579702,;	5126	11	12	SUCCESS
ZNF99	7652	.	GRCh37	19	22939264	22939264	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	33	0				ENST00000596209	NM_001080409.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTCTTTCC	NONE	.	852	.	.	.	ENSP00000472969	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Lys969Asn,ENST00000397104,;ZNF99,downstream_gene_variant,,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	.	33	40	SUCCESS
LCE4A	199834	.	GRCh37	1	152681862	152681862	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs753873302	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	57	0	ENST00000335535.3:c.*11G>T			ENST00000335535	NM_178356.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1022.1	.	MUTECT|MUSE	.	ACCAGGAGCAG	NONE	byFrequency	.	.	.	.	ENSP00000357766	.	2/2	.	.	.	.	.	.	.	.	rs753873302	2/2	PASS	ENST00000368777	Transcript	.	.	ENSG00000187170	16613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCE4A_HUMAN	LCE4A	HGNC	.	.	UPI0000192763	SNV	LCE4A,3_prime_UTR_variant,,ENST00000368777,;LCE4A,3_prime_UTR_variant,,ENST00000335535,;	567	57	104	SUCCESS
KIF2C	11004	.	GRCh37	1	45232862	45232862	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	70	0	ENST00000372224.4:c.*11T>A			ENST00000372224	NM_006845.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS512.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAATAAAAA	NONE	.	.	.	.	.	ENSP00000361298	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000372224	Transcript	.	.	ENSG00000142945	6393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF2C_HUMAN	KIF2C	HGNC	Q8N5N1_HUMAN,B7Z7M6_HUMAN	.	UPI000012DDAD	SNV	KIF2C,3_prime_UTR_variant,,ENST00000372222,;KIF2C,3_prime_UTR_variant,,ENST00000372224,;KIF2C,3_prime_UTR_variant,,ENST00000372217,;KIF2C,3_prime_UTR_variant,,ENST00000372218,;KIF2C,downstream_gene_variant,,ENST00000423289,;RP11-269F19.2,intron_variant,,ENST00000428791,;KIF2C,downstream_gene_variant,,ENST00000472235,;	2302	70	71	SUCCESS
HSD17B11	51170	.	GRCh37	4	88258304	88258304	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	16	0	ENST00000358290.4:c.*124G>T			ENST00000358290	NM_016245.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3619.1	.	MUTECT|MUSE	.	AAAGCCTCAAA	NONE	.	.	.	.	.	ENSP00000351035	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000358290	Transcript	.	.	ENSG00000198189	22960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHB11_HUMAN	HSD17B11	HGNC	.	.	UPI000013FB48	SNV	HSD17B11,3_prime_UTR_variant,,ENST00000358290,;HSD17B11,downstream_gene_variant,,ENST00000507286,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000512344,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000507518,;RP11-529H2.2,intron_variant,,ENST00000508163,;HSD17B11,downstream_gene_variant,,ENST00000502576,;HSD17B11,downstream_gene_variant,,ENST00000513854,;	1343	16	15	SUCCESS
OPRM1	4988	.	GRCh37	6	154360342	154360342	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	6	97	0				ENST00000330432	NM_000914.3	16		0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS47503.1	47	MUTECT|MUSE	.	CTTGGATCGCT	NONE	.	.	.	.	.	ENSP00000394624	.	2/6	.	.	.	.	.	.	.	.	.	2/6	PASS	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Asp16Val,ENST00000434900,;OPRM1,intron_variant,,ENST00000520282,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,upstream_gene_variant,,ENST00000337049,;OPRM1,upstream_gene_variant,,ENST00000428397,;OPRM1,upstream_gene_variant,,ENST00000360422,;OPRM1,upstream_gene_variant,,ENST00000452687,;OPRM1,upstream_gene_variant,,ENST00000330432,;OPRM1,upstream_gene_variant,,ENST00000435918,;OPRM1,upstream_gene_variant,,ENST00000414028,;OPRM1,upstream_gene_variant,,ENST00000419506,;OPRM1,upstream_gene_variant,,ENST00000524163,;OPRM1,upstream_gene_variant,,ENST00000229768,;OPRM1,upstream_gene_variant,,ENST00000523520,;OPRM1,upstream_gene_variant,,ENST00000522739,;OPRM1,upstream_gene_variant,,ENST00000519083,;OPRM1,upstream_gene_variant,,ENST00000524150,;	565	97	125	SUCCESS
TMEM196	256130	.	GRCh37	7	19761637	19761637	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	41	0	ENST00000405764.3:c.*61del			ENST00000405764	NM_152774.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34607.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTAGTCCTTTG	NONE	.	.	.	.	.	ENSP00000384234	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000405764	Transcript	.	.	ENSG00000173452	22431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM196_HUMAN	TMEM196	HGNC	.	.	UPI00005A9078	deletion	TMEM196,3_prime_UTR_variant,,ENST00000422233,;TMEM196,3_prime_UTR_variant,,ENST00000493519,;TMEM196,3_prime_UTR_variant,,ENST00000405764,;TMEM196,3_prime_UTR_variant,,ENST00000405844,;TMEM196,3_prime_UTR_variant,,ENST00000433641,;AC004543.1,downstream_gene_variant,,ENST00000408649,;	1277	41	56	SUCCESS
MAGEA6	4105	.	GRCh37	X	151870678	151870678	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	73	0	ENST00000329342.5:c.*423G>C			ENST00000329342	NM_005363.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14708.1	.	RADIA|MUSE|VARSCANS	.	CATGAGATAAC	NONE	.	.	.	.	.	ENSP00000329199	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000329342	Transcript	.	.	ENSG00000197172	6804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAGA6_HUMAN	MAGEA6	HGNC	E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN	.	UPI000000D9B0	SNV	MAGEA6,3_prime_UTR_variant,,ENST00000329342,;MAGEA6,downstream_gene_variant,,ENST00000412733,;MAGEA6,downstream_gene_variant,,ENST00000457643,;	1593	73	78	SUCCESS
MAGEA3	4102	.	GRCh37	X	151934799	151934799	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	273	36	377	0	ENST00000370278.3:c.*423G>C			ENST00000370278	NM_005362.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14715.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTATCTCATG	NONE	.	.	.	.	.	ENSP00000377480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393902	Transcript	.	.	ENSG00000221867	6801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGA3_HUMAN	MAGEA3	HGNC	E7EMU0_HUMAN,B9A060_HUMAN	.	UPI0000062194	SNV	MAGEA3,3_prime_UTR_variant,,ENST00000393902,;MAGEA3,3_prime_UTR_variant,,ENST00000370278,;MAGEA3,downstream_gene_variant,,ENST00000417212,;	1936	378	309	SUCCESS
LRRC10B	390205	.	GRCh37	11	61277683	61277683	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	30	0	ENST00000378075.2:c.*334G>T			ENST00000378075	NM_001145077.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44621.1	.	MUTECT|MUSE	.	CCTGAGTCTGG	NONE	.	.	.	.	.	ENSP00000367315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000378075	Transcript	.	.	ENSG00000204950	37215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LR10B_HUMAN	LRRC10B	HGNC	.	.	UPI00006C114B	SNV	LRRC10B,3_prime_UTR_variant,,ENST00000378075,;MIR4488,downstream_gene_variant,,ENST00000577388,;	1412	30	27	SUCCESS
FGF6	2251	.	GRCh37	12	4543375	4543375	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	54	183	0	ENST00000228837.2:c.*6C>A			ENST00000228837	NM_020996.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8527.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTGTGGGTCC	NONE	.	.	.	.	.	ENSP00000228837	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000228837	Transcript	.	.	ENSG00000111241	3684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF6_HUMAN	FGF6	HGNC	.	.	UPI00000411BF	SNV	FGF6,3_prime_UTR_variant,,ENST00000228837,;FGF6,intron_variant,,ENST00000543077,;	677	183	191	SUCCESS
IGDCC3	9543	.	GRCh37	15	65621220	65621220	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs985288436	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	6	50	0	ENST00000327987.4:c.*27G>A			ENST00000327987	NM_004884.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10205.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGTCCACCCT	NONE	.	.	.	.	.	ENSP00000332773	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000327987	Transcript	.	.	ENSG00000174498	9700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGDC3_HUMAN	IGDCC3	HGNC	H0YNQ1_HUMAN	.	UPI000019908F	SNV	IGDCC3,3_prime_UTR_variant,,ENST00000327987,;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	2724	50	35	SUCCESS
ZNF99	7652	.	GRCh37	19	22939264	22939264	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	28	0				ENST00000596209	NM_001080409.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59369.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGTTTCTTTCC	NONE	.	852	.	.	.	ENSP00000472969	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000596209	Transcript	.	.	ENSG00000213973	13175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Lys969Asn,ENST00000397104,;ZNF99,downstream_gene_variant,,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	.	28	40	SUCCESS
LCE4A	199834	.	GRCh37	1	152681862	152681862	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs753873302	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	99	5	85	0	ENST00000335535.3:c.*11G>T			ENST00000335535	NM_178356.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1022.1	.	MUTECT|MUSE	.	ACCAGGAGCAG	NONE	byFrequency	.	.	.	.	ENSP00000357766	.	2/2	.	.	.	.	.	.	.	.	rs753873302	2/2	nonpreferredpair	ENST00000368777	Transcript	.	.	ENSG00000187170	16613	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LCE4A_HUMAN	LCE4A	HGNC	.	.	UPI0000192763	SNV	LCE4A,3_prime_UTR_variant,,ENST00000368777,;LCE4A,3_prime_UTR_variant,,ENST00000335535,;	567	85	104	SUCCESS
KIF2C	11004	.	GRCh37	1	45232862	45232862	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	16	72	0	ENST00000372224.4:c.*11T>A			ENST00000372224	NM_006845.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS512.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAAATAAAAA	NONE	.	.	.	.	.	ENSP00000361298	.	21/21	.	.	.	.	.	.	.	.	.	21/21	nonpreferredpair	ENST00000372224	Transcript	.	.	ENSG00000142945	6393	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KIF2C_HUMAN	KIF2C	HGNC	Q8N5N1_HUMAN,B7Z7M6_HUMAN	.	UPI000012DDAD	SNV	KIF2C,3_prime_UTR_variant,,ENST00000372222,;KIF2C,3_prime_UTR_variant,,ENST00000372224,;KIF2C,3_prime_UTR_variant,,ENST00000372217,;KIF2C,3_prime_UTR_variant,,ENST00000372218,;KIF2C,downstream_gene_variant,,ENST00000423289,;RP11-269F19.2,intron_variant,,ENST00000428791,;KIF2C,downstream_gene_variant,,ENST00000472235,;	2302	72	71	SUCCESS
HSD17B11	51170	.	GRCh37	4	88258304	88258304	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	12	0	ENST00000358290.4:c.*124G>T			ENST00000358290	NM_016245.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3619.1	.	MUTECT|MUSE	.	AAAGCCTCAAA	NONE	.	.	.	.	.	ENSP00000351035	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000358290	Transcript	.	.	ENSG00000198189	22960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHB11_HUMAN	HSD17B11	HGNC	.	.	UPI000013FB48	SNV	HSD17B11,3_prime_UTR_variant,,ENST00000358290,;HSD17B11,downstream_gene_variant,,ENST00000507286,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000512344,;HSD17B11,non_coding_transcript_exon_variant,,ENST00000507518,;RP11-529H2.2,intron_variant,,ENST00000508163,;HSD17B11,downstream_gene_variant,,ENST00000502576,;HSD17B11,downstream_gene_variant,,ENST00000513854,;	1343	12	15	SUCCESS
OPRM1	4988	.	GRCh37	6	154360342	154360342	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	6	142	0				ENST00000330432	NM_000914.3	16		0	.	.	.	.	.	T	D/V	protein_coding	YES	CCDS47503.1	47	MUTECT|MUSE	.	CTTGGATCGCT	NONE	.	.	.	.	.	ENSP00000394624	.	2/6	.	.	.	.	.	.	.	.	.	2/6	nonpreferredpair	ENST00000434900	Transcript	.	.	ENSG00000112038	8156	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	.	.	OPRM_HUMAN	OPRM1	HGNC	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN	.	UPI0001899627	SNV	OPRM1,missense_variant,p.Asp16Val,ENST00000434900,;OPRM1,intron_variant,,ENST00000520282,;OPRM1,intron_variant,,ENST00000518759,;OPRM1,intron_variant,,ENST00000520708,;OPRM1,upstream_gene_variant,,ENST00000337049,;OPRM1,upstream_gene_variant,,ENST00000428397,;OPRM1,upstream_gene_variant,,ENST00000360422,;OPRM1,upstream_gene_variant,,ENST00000452687,;OPRM1,upstream_gene_variant,,ENST00000330432,;OPRM1,upstream_gene_variant,,ENST00000435918,;OPRM1,upstream_gene_variant,,ENST00000414028,;OPRM1,upstream_gene_variant,,ENST00000419506,;OPRM1,upstream_gene_variant,,ENST00000524163,;OPRM1,upstream_gene_variant,,ENST00000229768,;OPRM1,upstream_gene_variant,,ENST00000523520,;OPRM1,upstream_gene_variant,,ENST00000522739,;OPRM1,upstream_gene_variant,,ENST00000519083,;OPRM1,upstream_gene_variant,,ENST00000524150,;	565	142	125	SUCCESS
TMEM196	256130	.	GRCh37	7	19761637	19761637	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	7	33	0	ENST00000405764.3:c.*61del			ENST00000405764	NM_152774.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS34607.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCTAGTCCTTTG	NONE	.	.	.	.	.	ENSP00000384234	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000405764	Transcript	.	.	ENSG00000173452	22431	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM196_HUMAN	TMEM196	HGNC	.	.	UPI00005A9078	deletion	TMEM196,3_prime_UTR_variant,,ENST00000422233,;TMEM196,3_prime_UTR_variant,,ENST00000493519,;TMEM196,3_prime_UTR_variant,,ENST00000405764,;TMEM196,3_prime_UTR_variant,,ENST00000405844,;TMEM196,3_prime_UTR_variant,,ENST00000433641,;AC004543.1,downstream_gene_variant,,ENST00000408649,;	1277	33	56	SUCCESS
MAGEA6	4105	.	GRCh37	X	151870678	151870678	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	7	53	0	ENST00000329342.5:c.*423G>C			ENST00000329342	NM_005363.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14708.1	.	RADIA|MUSE|VARSCANS	.	CATGAGATAAC	NONE	.	.	.	.	.	ENSP00000329199	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000329342	Transcript	.	.	ENSG00000197172	6804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	MAGA6_HUMAN	MAGEA6	HGNC	E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN	.	UPI000000D9B0	SNV	MAGEA6,3_prime_UTR_variant,,ENST00000329342,;MAGEA6,downstream_gene_variant,,ENST00000412733,;MAGEA6,downstream_gene_variant,,ENST00000457643,;	1593	53	78	SUCCESS
MAGEA3	4102	.	GRCh37	X	151934799	151934799	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-FV-A495-01	TCGA-FV-A495-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	273	36	313	0	ENST00000370278.3:c.*423G>C			ENST00000370278	NM_005362.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14715.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTATCTCATG	NONE	.	.	.	.	.	ENSP00000377480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000393902	Transcript	.	.	ENSG00000221867	6801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGA3_HUMAN	MAGEA3	HGNC	E7EMU0_HUMAN,B9A060_HUMAN	.	UPI0000062194	SNV	MAGEA3,3_prime_UTR_variant,,ENST00000393902,;MAGEA3,3_prime_UTR_variant,,ENST00000370278,;MAGEA3,downstream_gene_variant,,ENST00000417212,;	1936	313	309	SUCCESS
DYNLL1	8655	.	GRCh37	12	120936104	120936104	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	8	0	ENST00000242577.6:c.*91T>G			ENST00000242577	NM_001037495.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9200.1	.	MUTECT|MUSE	.	CAGCCTTGCTA	NONE	.	.	.	.	.	ENSP00000376297	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000392509	Transcript	.	.	ENSG00000088986	15476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYL1_HUMAN	DYNLL1	HGNC	Q6FGH9_HUMAN,F8VXI7_HUMAN	.	UPI0000000991	SNV	DYNLL1,3_prime_UTR_variant,,ENST00000392509,;DYNLL1,3_prime_UTR_variant,,ENST00000392508,;DYNLL1,3_prime_UTR_variant,,ENST00000549989,;DYNLL1,3_prime_UTR_variant,,ENST00000242577,;DYNLL1,3_prime_UTR_variant,,ENST00000552870,;DYNLL1,downstream_gene_variant,,ENST00000550845,;DYNLL1,downstream_gene_variant,,ENST00000550178,;COQ5,downstream_gene_variant,,ENST00000288532,;DYNLL1,downstream_gene_variant,,ENST00000548342,;DYNLL1,downstream_gene_variant,,ENST00000548214,;DYNLL1,downstream_gene_variant,,ENST00000549649,;DYNLL1-AS1,upstream_gene_variant,,ENST00000500741,;DYNLL1,non_coding_transcript_exon_variant,,ENST00000552316,;	622	8	12	SUCCESS
ZNF747	65988	.	GRCh37	16	30543772	30543772	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	17	0	ENST00000252799.3:c.*608C>T			ENST00000252799	NM_023931.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10682.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGAGCCCAT	NONE	.	.	.	.	.	ENSP00000252799	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000252799	Transcript	.	.	ENSG00000169955	28350	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN747_HUMAN	ZNF747	HGNC	.	.	UPI000006E561	SNV	ZNF747,3_prime_UTR_variant,,ENST00000395094,;ZNF747,3_prime_UTR_variant,,ENST00000535210,;ZNF747,3_prime_UTR_variant,,ENST00000568028,;ZNF747,3_prime_UTR_variant,,ENST00000252799,;AC002310.13,downstream_gene_variant,,ENST00000568114,;AC002310.12,upstream_gene_variant,,ENST00000569752,;AC002310.12,upstream_gene_variant,,ENST00000457283,;ZNF747,3_prime_UTR_variant,,ENST00000569360,;AC002310.10,downstream_gene_variant,,ENST00000569728,;	1852	17	15	SUCCESS
NAA20	51126	.	GRCh37	20	20013911	20013911	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs577930015	.	TCGA-FV-A496-01	TCGA-FV-A496-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	23	0	ENST00000334982.4:c.*80A>G			ENST00000334982	NM_016100.4			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS13141.1	.	MUTECT|MUSE	.	GCTCTATTAGG	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000335636	G:0	6/6	.	.	.	.	.	.	.	.	rs577930015	6/6	PASS	ENST00000334982	Transcript	.	G:0.0004	ENSG00000173418	15908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0.002	.	.	NAA20_HUMAN	NAA20	HGNC	.	.	UPI0000029838	SNV	NAA20,3_prime_UTR_variant,,ENST00000310450,;NAA20,3_prime_UTR_variant,,ENST00000398602,;NAA20,3_prime_UTR_variant,,ENST00000334982,;CRNKL1,downstream_gene_variant,,ENST00000377327,;CRNKL1,downstream_gene_variant,,ENST00000377340,;CRNKL1,downstream_gene_variant,,ENST00000536226,;NAA20,non_coding_transcript_exon_variant,,ENST00000480550,;NAA20,non_coding_transcript_exon_variant,,ENST00000463154,;NAA20,non_coding_transcript_exon_variant,,ENST00000484480,;CRNKL1,downstream_gene_variant,,ENST00000521379,;CRNKL1,downstream_gene_variant,,ENST00000490910,;CRNKL1,downstream_gene_variant,,ENST00000496549,;CRNKL1,downstream_gene_variant,,ENST00000490258,;	898	23	27	SUCCESS
APP	351	.	GRCh37	21	27253977	27253977	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	53	0	ENST00000346798.3:c.*4C>G			ENST00000346798	NM_000484.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13576.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGGGGTCT	NONE	.	.	.	.	.	ENSP00000284981	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,3_prime_UTR_variant,,ENST00000440126,;APP,3_prime_UTR_variant,,ENST00000359726,;APP,3_prime_UTR_variant,,ENST00000358918,;APP,3_prime_UTR_variant,,ENST00000357903,;APP,3_prime_UTR_variant,,ENST00000346798,;APP,3_prime_UTR_variant,,ENST00000354192,;APP,3_prime_UTR_variant,,ENST00000439274,;APP,3_prime_UTR_variant,,ENST00000348990,;APP,3_prime_UTR_variant,,ENST00000448388,;APP,non_coding_transcript_exon_variant,,ENST00000464867,;	2351	53	41	SUCCESS
CX3CR1	1524	.	GRCh37	3	39306901	39306901	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	69	0	ENST00000399220.2:c.*32A>G			ENST00000399220	NM_001337.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54571.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTTCTCT	NONE	.	.	.	.	.	ENSP00000351059	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358309	Transcript	.	.	ENSG00000168329	2558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX3C1_HUMAN	CX3CR1	HGNC	C9JN40_HUMAN,C9JLM2_HUMAN	.	UPI00004570E5	SNV	CX3CR1,3_prime_UTR_variant,,ENST00000542107,;CX3CR1,3_prime_UTR_variant,,ENST00000399220,;CX3CR1,3_prime_UTR_variant,,ENST00000358309,;CX3CR1,3_prime_UTR_variant,,ENST00000541347,;CX3CR1,downstream_gene_variant,,ENST00000435290,;CX3CR1,downstream_gene_variant,,ENST00000412814,;	1236	70	96	SUCCESS
PCDHB5	26167	.	GRCh37	5	140517496	140517496	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	5	196	0	ENST00000231134.5:c.*92G>C			ENST00000231134	NM_015669.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4247.1	.	MUTECT|MUSE	.	ACCTTGAGATT	NONE	.	.	.	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,3_prime_UTR_variant,,ENST00000231134,;	2697	196	151	SUCCESS
HLA-G	3135	.	GRCh37	6	29798176	29798176	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	51	185	1	ENST00000360323.6:c.*17C>T			ENST00000360323				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4668.1	.	RADIA|MUTECT|MUSE	.	CTACTCTCAGG	NONE	.	.	.	.	.	ENSP00000412927	.	7/8	.	.	.	.	.	.	.	.	.	7/8	PASS	ENST00000428701	Transcript	.	.	ENSG00000204632	4964	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HLAG_HUMAN	HLA-G	HGNC	Q6DU14_HUMAN,M9TK49_HUMAN,Q9UM45_HUMAN,Q9TP14_HUMAN,Q9TP13_HUMAN,Q9TP12_HUMAN,Q9TP11_HUMAN,Q9TP10_HUMAN,Q95356_HUMAN,Q7JFN0_HUMAN,Q6DL89_HUMAN,Q6DL88_HUMAN,Q6DL87_HUMAN,Q6DL86_HUMAN,Q6DL85_HUMAN,Q6B9Y6_HUMAN,Q6B9Y4_HUMAN,Q6B9Y3_HUMAN,Q6B9Y2_HUMAN,Q6B9Y1_HUMAN,Q6B845_HUMAN,Q68YS4_HUMAN,Q68YS3_HUMAN,Q68YS2_HUMAN,Q68YS1_HUMAN,Q68YS0_HUMAN,Q68YR9_HUMAN,Q68YR8_HUMAN,Q30182_HUMAN,O78136_HUMAN,O78135_HUMAN,O78134_HUMAN,O78133_HUMAN,O78131_HUMAN,O19809_HUMAN,O19807_HUMAN,O19806_HUMAN,O19805_HUMAN,O19768_HUMAN,O19767_HUMAN,O19766_HUMAN,O19745_HUMAN,O19684_HUMAN,O19659_HUMAN,O19658_HUMAN,O02928_HUMAN,O02927_HUMAN,O02926_HUMAN,O02923_HUMAN,J3JRT1_HUMAN,C7SJ32_HUMAN,C0JTC7_HUMAN,C0JT30_HUMAN,C0JT28_HUMAN,C0JSV3_HUMAN,C0JSV2_HUMAN,B5LFX9_HUMAN,B1P198_HUMAN,A5HSK0_HUMAN	.	UPI000000166E	SNV	HLA-G,3_prime_UTR_variant,,ENST00000376828,;HLA-G,3_prime_UTR_variant,,ENST00000360323,;HLA-G,3_prime_UTR_variant,,ENST00000428701,;HLA-G,3_prime_UTR_variant,,ENST00000376815,;HLA-G,3_prime_UTR_variant,,ENST00000376818,;HLA-G,3_prime_UTR_variant,,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,upstream_gene_variant,,ENST00000443049,;	1212	186	185	SUCCESS
MSC	9242	.	GRCh37	8	72754743	72754743	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1585712736	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	32	0	ENST00000325509.4:c.*153C>T			ENST00000325509	NM_005098.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43746.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGCCACC	NONE	.	.	.	.	.	ENSP00000321445	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325509	Transcript	.	.	ENSG00000178860	7321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUSC_HUMAN	MSC	HGNC	.	.	UPI000012FA29	SNV	MSC,3_prime_UTR_variant,,ENST00000325509,;RP11-383H13.1,intron_variant,,ENST00000521467,;RP11-383H13.1,upstream_gene_variant,,ENST00000537896,;RP11-383H13.1,upstream_gene_variant,,ENST00000524152,;MSC,non_coding_transcript_exon_variant,,ENST00000518440,;MSC,non_coding_transcript_exon_variant,,ENST00000521739,;RP11-383H13.1,upstream_gene_variant,,ENST00000519751,;RP11-383H13.1,upstream_gene_variant,,ENST00000457356,;RP11-383H13.1,upstream_gene_variant,,ENST00000518916,;RP11-383H13.1,upstream_gene_variant,,ENST00000522519,;	1064	32	35	SUCCESS
FBP2	8789	.	GRCh37	9	97321208	97321208	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs767352226	.	TCGA-FV-A496-01	TCGA-FV-A496-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	20	100	0	ENST00000375337.3:c.*12C>A			ENST00000375337	NM_003837.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6711.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGGGTCA	NONE	.	.	.	.	.	ENSP00000364486	.	7/7	.	.	.	.	.	.	.	.	rs767352226	7/7	PASS	ENST00000375337	Transcript	.	.	ENSG00000130957	3607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F16P2_HUMAN	FBP2	HGNC	.	.	UPI000013CDC2	SNV	FBP2,3_prime_UTR_variant,,ENST00000375337,;PCAT7,intron_variant,,ENST00000452148,;	1099	101	130	SUCCESS
NAA20	51126	.	GRCh37	20	20013911	20013911	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs577930015	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	36	0	ENST00000334982.4:c.*80A>G			ENST00000334982	NM_016100.4			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS13141.1	.	MUTECT|MUSE	.	GCTCTATTAGG	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000335636	G:0	6/6	.	.	.	.	.	.	.	.	rs577930015	6/6	nonpreferredpair	ENST00000334982	Transcript	.	G:0.0004	ENSG00000173418	15908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	G:0.002	.	.	NAA20_HUMAN	NAA20	HGNC	.	.	UPI0000029838	SNV	NAA20,3_prime_UTR_variant,,ENST00000310450,;NAA20,3_prime_UTR_variant,,ENST00000398602,;NAA20,3_prime_UTR_variant,,ENST00000334982,;CRNKL1,downstream_gene_variant,,ENST00000377327,;CRNKL1,downstream_gene_variant,,ENST00000377340,;CRNKL1,downstream_gene_variant,,ENST00000536226,;NAA20,non_coding_transcript_exon_variant,,ENST00000480550,;NAA20,non_coding_transcript_exon_variant,,ENST00000463154,;NAA20,non_coding_transcript_exon_variant,,ENST00000484480,;CRNKL1,downstream_gene_variant,,ENST00000521379,;CRNKL1,downstream_gene_variant,,ENST00000490910,;CRNKL1,downstream_gene_variant,,ENST00000496549,;CRNKL1,downstream_gene_variant,,ENST00000490258,;	898	36	27	SUCCESS
APP	351	.	GRCh37	21	27253977	27253977	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	24	32	0	ENST00000346798.3:c.*4C>G			ENST00000346798	NM_000484.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13576.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGGGTCT	NONE	.	.	.	.	.	ENSP00000284981	.	18/18	.	.	.	.	.	.	.	.	.	18/18	nonpreferredpair	ENST00000346798	Transcript	.	.	ENSG00000142192	620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A4_HUMAN	APP	HGNC	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN	.	UPI000002DB1C	SNV	APP,3_prime_UTR_variant,,ENST00000440126,;APP,3_prime_UTR_variant,,ENST00000359726,;APP,3_prime_UTR_variant,,ENST00000358918,;APP,3_prime_UTR_variant,,ENST00000357903,;APP,3_prime_UTR_variant,,ENST00000346798,;APP,3_prime_UTR_variant,,ENST00000354192,;APP,3_prime_UTR_variant,,ENST00000439274,;APP,3_prime_UTR_variant,,ENST00000348990,;APP,3_prime_UTR_variant,,ENST00000448388,;APP,non_coding_transcript_exon_variant,,ENST00000464867,;	2351	32	41	SUCCESS
SUN2	25777	.	GRCh37	22	39131910	39131910	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	9	11	0	ENST00000405510.1:c.*362T>A			ENST00000405510	NM_001199580.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56231.1	.	MUTECT|MUSE	.	CCCACAGCCCT	NONE	.	.	.	.	.	ENSP00000385616	.	18/18	.	.	.	.	.	.	.	.	.	18/18	nonpreferredpair	ENST00000405018	Transcript	.	.	ENSG00000100242	14210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SUN2_HUMAN	SUN2	HGNC	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN	.	UPI0001611146	SNV	SUN2,3_prime_UTR_variant,,ENST00000405018,;SUN2,3_prime_UTR_variant,,ENST00000405510,;SUN2,3_prime_UTR_variant,,ENST00000216064,;GTPBP1,intron_variant,,ENST00000489527,;GTPBP1,intron_variant,,ENST00000458073,;SUN2,downstream_gene_variant,,ENST00000455125,;SUN2,downstream_gene_variant,,ENST00000406622,;GTPBP1,downstream_gene_variant,,ENST00000216044,;SUN2,downstream_gene_variant,,ENST00000411587,;RP3-508I15.19,intron_variant,,ENST00000418803,;RP3-508I15.18,intron_variant,,ENST00000420118,;RP3-508I15.14,upstream_gene_variant,,ENST00000416406,;RP3-508I15.20,downstream_gene_variant,,ENST00000609428,;GTPBP1,intron_variant,,ENST00000487538,;GTPBP1,intron_variant,,ENST00000484971,;SUN2,downstream_gene_variant,,ENST00000477262,;SUN2,downstream_gene_variant,,ENST00000464202,;SUN2,downstream_gene_variant,,ENST00000469086,;GTPBP1,downstream_gene_variant,,ENST00000462332,;SUN2,downstream_gene_variant,,ENST00000470642,;AL021707.2,downstream_gene_variant,,ENST00000544928,;AL021707.1,downstream_gene_variant,,ENST00000366392,;	2853	11	11	SUCCESS
CX3CR1	1524	.	GRCh37	3	39306901	39306901	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	30	80	0	ENST00000399220.2:c.*32A>G			ENST00000399220	NM_001337.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54571.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGTTCTCT	NONE	.	.	.	.	.	ENSP00000351059	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000358309	Transcript	.	.	ENSG00000168329	2558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CX3C1_HUMAN	CX3CR1	HGNC	C9JN40_HUMAN,C9JLM2_HUMAN	.	UPI00004570E5	SNV	CX3CR1,3_prime_UTR_variant,,ENST00000542107,;CX3CR1,3_prime_UTR_variant,,ENST00000399220,;CX3CR1,3_prime_UTR_variant,,ENST00000358309,;CX3CR1,3_prime_UTR_variant,,ENST00000541347,;CX3CR1,downstream_gene_variant,,ENST00000435290,;CX3CR1,downstream_gene_variant,,ENST00000412814,;	1236	81	96	SUCCESS
PCDHB5	26167	.	GRCh37	5	140517496	140517496	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	5	203	0	ENST00000231134.5:c.*92G>C			ENST00000231134	NM_015669.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4247.1	.	MUTECT|MUSE	.	ACCTTGAGATT	NONE	.	.	.	.	.	ENSP00000231134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000231134	Transcript	.	.	ENSG00000113209	8690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDB5_HUMAN	PCDHB5	HGNC	.	.	UPI00001273E1	SNV	PCDHB5,3_prime_UTR_variant,,ENST00000231134,;	2697	203	151	SUCCESS
HLA-G	3135	.	GRCh37	6	29798176	29798176	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A496-01	TCGA-FV-A496-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	134	51	144	0	ENST00000360323.6:c.*17C>T			ENST00000360323				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4668.1	.	RADIA|MUTECT|MUSE	.	CTACTCTCAGG	NONE	.	.	.	.	.	ENSP00000412927	.	7/8	.	.	.	.	.	.	.	.	.	7/8	nonpreferredpair	ENST00000428701	Transcript	.	.	ENSG00000204632	4964	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HLAG_HUMAN	HLA-G	HGNC	Q6DU14_HUMAN,M9TK49_HUMAN,Q9UM45_HUMAN,Q9TP14_HUMAN,Q9TP13_HUMAN,Q9TP12_HUMAN,Q9TP11_HUMAN,Q9TP10_HUMAN,Q95356_HUMAN,Q7JFN0_HUMAN,Q6DL89_HUMAN,Q6DL88_HUMAN,Q6DL87_HUMAN,Q6DL86_HUMAN,Q6DL85_HUMAN,Q6B9Y6_HUMAN,Q6B9Y4_HUMAN,Q6B9Y3_HUMAN,Q6B9Y2_HUMAN,Q6B9Y1_HUMAN,Q6B845_HUMAN,Q68YS4_HUMAN,Q68YS3_HUMAN,Q68YS2_HUMAN,Q68YS1_HUMAN,Q68YS0_HUMAN,Q68YR9_HUMAN,Q68YR8_HUMAN,Q30182_HUMAN,O78136_HUMAN,O78135_HUMAN,O78134_HUMAN,O78133_HUMAN,O78131_HUMAN,O19809_HUMAN,O19807_HUMAN,O19806_HUMAN,O19805_HUMAN,O19768_HUMAN,O19767_HUMAN,O19766_HUMAN,O19745_HUMAN,O19684_HUMAN,O19659_HUMAN,O19658_HUMAN,O02928_HUMAN,O02927_HUMAN,O02926_HUMAN,O02923_HUMAN,J3JRT1_HUMAN,C7SJ32_HUMAN,C0JTC7_HUMAN,C0JT30_HUMAN,C0JT28_HUMAN,C0JSV3_HUMAN,C0JSV2_HUMAN,B5LFX9_HUMAN,B1P198_HUMAN,A5HSK0_HUMAN	.	UPI000000166E	SNV	HLA-G,3_prime_UTR_variant,,ENST00000376828,;HLA-G,3_prime_UTR_variant,,ENST00000360323,;HLA-G,3_prime_UTR_variant,,ENST00000428701,;HLA-G,3_prime_UTR_variant,,ENST00000376815,;HLA-G,3_prime_UTR_variant,,ENST00000376818,;HLA-G,3_prime_UTR_variant,,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,upstream_gene_variant,,ENST00000443049,;	1212	144	185	SUCCESS
MSC	9242	.	GRCh37	8	72754743	72754743	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1585712736	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	21	0	ENST00000325509.4:c.*153C>T			ENST00000325509	NM_005098.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43746.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCGCCACC	NONE	.	.	.	.	.	ENSP00000321445	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000325509	Transcript	.	.	ENSG00000178860	7321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MUSC_HUMAN	MSC	HGNC	.	.	UPI000012FA29	SNV	MSC,3_prime_UTR_variant,,ENST00000325509,;RP11-383H13.1,intron_variant,,ENST00000521467,;RP11-383H13.1,upstream_gene_variant,,ENST00000537896,;RP11-383H13.1,upstream_gene_variant,,ENST00000524152,;MSC,non_coding_transcript_exon_variant,,ENST00000518440,;MSC,non_coding_transcript_exon_variant,,ENST00000521739,;RP11-383H13.1,upstream_gene_variant,,ENST00000519751,;RP11-383H13.1,upstream_gene_variant,,ENST00000457356,;RP11-383H13.1,upstream_gene_variant,,ENST00000518916,;RP11-383H13.1,upstream_gene_variant,,ENST00000522519,;	1064	21	35	SUCCESS
FBP2	8789	.	GRCh37	9	97321208	97321208	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs767352226	.	TCGA-FV-A496-01	TCGA-FV-A496-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	19	85	1	ENST00000375337.3:c.*12C>A			ENST00000375337	NM_003837.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6711.1	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	ATGTGGGGTCA	NONE	.	.	.	.	.	ENSP00000364486	.	7/7	.	.	.	.	.	.	.	.	rs767352226	7/7	nonpreferredpair	ENST00000375337	Transcript	.	.	ENSG00000130957	3607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	F16P2_HUMAN	FBP2	HGNC	.	.	UPI000013CDC2	SNV	FBP2,3_prime_UTR_variant,,ENST00000375337,;PCAT7,intron_variant,,ENST00000452148,;	1099	86	126	SUCCESS
C11orf68	83638	.	GRCh37	11	65684886	65684886	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs754942962	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	49	0	ENST00000530188.1:c.*44G>A			ENST00000530188				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44652.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCCCAGCA	NONE	.	.	.	.	.	ENSP00000398350	.	2/2	.	.	.	.	.	.	.	.	rs754942962	2/2	PASS	ENST00000438576	Transcript	.	.	ENSG00000175573	28801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CK068_HUMAN	C11orf68	HGNC	.	.	UPI0000228EAC	SNV	C11orf68,3_prime_UTR_variant,,ENST00000449692,;C11orf68,3_prime_UTR_variant,,ENST00000530188,;C11orf68,3_prime_UTR_variant,,ENST00000438576,;DRAP1,upstream_gene_variant,,ENST00000376991,;DRAP1,upstream_gene_variant,,ENST00000525501,;DRAP1,upstream_gene_variant,,ENST00000532933,;DRAP1,upstream_gene_variant,,ENST00000527119,;DRAP1,upstream_gene_variant,,ENST00000312515,;DRAP1,upstream_gene_variant,,ENST00000534333,;DRAP1,upstream_gene_variant,,ENST00000531121,;DRAP1,upstream_gene_variant,,ENST00000525190,;DRAP1,upstream_gene_variant,,ENST00000530791,;	1012	49	30	SUCCESS
P4HA3	283208	.	GRCh37	11	73978139	73978139	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	15	0	ENST00000331597.4:c.*154T>A			ENST00000331597	NM_182904.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8230.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACAACCTCT	NONE	.	.	.	.	.	ENSP00000332170	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000331597	Transcript	.	.	ENSG00000149380	30135	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P4HA3_HUMAN	P4HA3	HGNC	H0YCC3_HUMAN	.	UPI00000423C1	SNV	P4HA3,synonymous_variant,p.%3D,ENST00000427714,;P4HA3,3_prime_UTR_variant,,ENST00000331597,;P4HA3,3_prime_UTR_variant,,ENST00000525968,;P4HA3,intron_variant,,ENST00000532689,;P4HA3,intron_variant,,ENST00000524388,;	1835	15	16	SUCCESS
PLBD2	196463	.	GRCh37	12	113826501	113826501	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	26	68	1	ENST00000280800.3:c.*70C>T			ENST00000280800	NM_173542.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9168.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCACCGGAC	NONE	.	.	.	.	.	ENSP00000280800	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000280800	Transcript	.	.	ENSG00000151176	27283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLBL2_HUMAN	PLBD2	HGNC	.	.	UPI000013DC40	SNV	PLBD2,3_prime_UTR_variant,,ENST00000280800,;PLBD2,3_prime_UTR_variant,,ENST00000545182,;SDS,downstream_gene_variant,,ENST00000257549,;	1871	69	54	SUCCESS
LAMTOR5	10542	.	GRCh37	1	110950487	110950487	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	99	25	131	0				ENST00000602318		1		0	.	.	.	.	.	G	M/T	protein_coding	YES	CCDS824.1	2	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCATGGCG	NONE	.	.	.	.	.	ENSP00000256644	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000256644	Transcript	.	.	ENSG00000134248	17955	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious_low_confidence(0)	.	LTOR5_HUMAN	LAMTOR5	HGNC	R4GMU8_HUMAN	.	UPI0000205288	SNV	LAMTOR5,start_lost,p.Met1?,ENST00000256644,;LAMTOR5,upstream_gene_variant,,ENST00000483260,;LAMTOR5,upstream_gene_variant,,ENST00000602318,;LAMTOR5,upstream_gene_variant,,ENST00000474861,;LAMTOR5,upstream_gene_variant,,ENST00000602858,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000598454,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000610148,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000608499,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000608067,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000609709,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000587691,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000457535,;LAMTOR5-AS1,non_coding_transcript_exon_variant,,ENST00000608486,;LAMTOR5-AS1,intron_variant,,ENST00000590413,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000590826,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000608253,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000609512,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000585330,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000609653,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000608602,;LAMTOR5-AS1,upstream_gene_variant,,ENST00000609244,;LAMTOR5,upstream_gene_variant,,ENST00000531779,;LAMTOR5,upstream_gene_variant,,ENST00000464240,;	78	131	124	SUCCESS
KLHDC7A	127707	.	GRCh37	1	18810841	18810841	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	27	74	2	ENST00000400664.1:c.*1032A>G			ENST00000400664	NM_152375.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS185.2	.	SOMATICSNIPER|VARSCANS	.	TTGATAAACTC	NONE	.	.	.	.	.	ENSP00000383505	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400664	Transcript	.	.	ENSG00000179023	26791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLD7A_HUMAN	KLHDC7A	HGNC	A4FU39_HUMAN	.	UPI0000E0501F	SNV	KLHDC7A,3_prime_UTR_variant,,ENST00000400664,;	3418	76	65	SUCCESS
LRRC8D	55144	.	GRCh37	1	90401556	90401556	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	6	82	0	ENST00000337338.5:c.*352C>T			ENST00000337338	NM_001134479.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS726.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTACTATAT	NONE	.	.	.	.	.	ENSP00000338887	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337338	Transcript	.	.	ENSG00000171492	16992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LRC8D_HUMAN	LRRC8D	HGNC	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN	.	UPI00001BBFBA	SNV	LRRC8D,3_prime_UTR_variant,,ENST00000394593,;LRRC8D,3_prime_UTR_variant,,ENST00000337338,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000414841,;RP11-302M6.5,upstream_gene_variant,,ENST00000608671,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	3336	82	52	SUCCESS
MACROD2	140733	.	GRCh37	20	13971257	13971257	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	42	0				ENST00000217246	NM_080676.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59443.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGGACTGT	NONE	.	.	.	.	.	ENSP00000367312	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000378072	Transcript	.	.	ENSG00000101251	15897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SE1L2_HUMAN	SEL1L2	HGNC	C9JNX3_HUMAN	.	UPI000003BCBF	SNV	SEL1L2,5_prime_UTR_variant,,ENST00000378072,;SEL1L2,intron_variant,,ENST00000473203,;SEL1L2,upstream_gene_variant,,ENST00000284951,;MACROD2,upstream_gene_variant,,ENST00000217246,;SEL1L2,intron_variant,,ENST00000486903,;MACROD2,upstream_gene_variant,,ENST00000483997,;MACROD2,upstream_gene_variant,,ENST00000492055,;MACROD2,upstream_gene_variant,,ENST00000477147,;SEL1L2,5_prime_UTR_variant,,ENST00000423870,;	6	42	50	SUCCESS
ACMSD	130013	.	GRCh37	2	135659533	135659533	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	37	0	ENST00000356140.5:c.*103C>G			ENST00000356140	NM_138326.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2173.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACTCAGAAA	NONE	.	.	.	.	.	ENSP00000348459	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000356140	Transcript	.	.	ENSG00000153086	19288	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACMSD_HUMAN	ACMSD	HGNC	.	.	UPI000006FB91	SNV	ACMSD,3_prime_UTR_variant,,ENST00000283054,;ACMSD,3_prime_UTR_variant,,ENST00000356140,;ACMSD,3_prime_UTR_variant,,ENST00000392928,;CCNT2-AS1,intron_variant,,ENST00000413962,;CCNT2-AS1,intron_variant,,ENST00000428857,;CCNT2-AS1,intron_variant,,ENST00000392929,;CCNT2-AS1,intron_variant,,ENST00000537615,;	1250	37	38	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532467	140532467	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	10	55	0	ENST00000231136.1:c.*244T>C			ENST00000231136	NM_018939.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4248.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAATTATCT	NONE	.	.	.	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,3_prime_UTR_variant,,ENST00000543635,;PCDHB6,3_prime_UTR_variant,,ENST00000231136,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2629	55	20	SUCCESS
STAG3	10734	.	GRCh37	7	99811770	99811770	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	13	0	ENST00000317296.5:c.*132G>A			ENST00000317296	NM_012447.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34703.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGTTGGGCAT	NONE	.	.	.	.	.	ENSP00000400359	.	34/34	.	.	.	.	.	.	.	.	.	34/34	PASS	ENST00000426455	Transcript	.	.	ENSG00000066923	11356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	STAG3_HUMAN	STAG3	HGNC	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN	.	UPI000020F6E0	SNV	STAG3,3_prime_UTR_variant,,ENST00000412190,;STAG3,3_prime_UTR_variant,,ENST00000426455,;STAG3,3_prime_UTR_variant,,ENST00000394018,;STAG3,3_prime_UTR_variant,,ENST00000317296,;GATS,intron_variant,,ENST00000436886,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000435519,;GATS,intron_variant,,ENST00000445230,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000414739,;GATS,intron_variant,,ENST00000437485,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000440058,;GATS,upstream_gene_variant,,ENST00000414997,;PVRIG,upstream_gene_variant,,ENST00000471803,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,non_coding_transcript_exon_variant,,ENST00000492674,;STAG3,intron_variant,,ENST00000451963,;	4217	13	30	SUCCESS
ZNF572	137209	.	GRCh37	8	125990115	125990115	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A4ZP-01	TCGA-FV-A4ZP-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	21	19	0	ENST00000319286.5:c.*15T>C			ENST00000319286	NM_152412.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6354.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGGTTGGTG	NONE	.	.	.	.	.	ENSP00000319305	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319286	Transcript	.	.	ENSG00000180938	26758	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN572_HUMAN	ZNF572	HGNC	.	.	UPI0000140576	SNV	ZNF572,3_prime_UTR_variant,,ENST00000319286,;	1759	19	32	SUCCESS
C10orf105	414152	.	GRCh37	10	73472984	73472984	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs756805967	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	66	25	87	0	ENST00000398786.2:c.*2709C>A			ENST00000398786	NM_001168390.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44430.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTGGGAAGTA	NONE	byFrequency	.	.	.	.	ENSP00000403151	.	2/2	.	.	.	.	.	.	.	.	rs756805967	2/2	PASS	ENST00000441508	Transcript	.	.	ENSG00000214688	20304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CJ105_HUMAN	C10orf105	HGNC	B1AVV1_HUMAN	.	UPI00001F8E63	SNV	CDH23,missense_variant,p.Gly774Val,ENST00000442677,;C10orf105,3_prime_UTR_variant,,ENST00000398786,;C10orf105,3_prime_UTR_variant,,ENST00000441508,;CDH23,intron_variant,,ENST00000466757,;CDH23,intron_variant,,ENST00000224721,;CDH23,intron_variant,,ENST00000398792,;	3311	87	91	SUCCESS
KCNA4	3739	.	GRCh37	11	30032190	30032190	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	10	51	0	ENST00000328224.6:c.*74A>G			ENST00000328224	NM_002233.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41629.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATTTTCATA	NONE	.	.	.	.	.	ENSP00000328511	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000328224	Transcript	.	.	ENSG00000182255	6222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA4_HUMAN	KCNA4	HGNC	.	.	UPI00001649FF	SNV	KCNA4,3_prime_UTR_variant,,ENST00000328224,;KCNA4,downstream_gene_variant,,ENST00000526518,;	3270	51	50	SUCCESS
C16orf80	0	.	GRCh37	16	58147789	58147789	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	17	0	ENST00000262498.3:c.*140C>G			ENST00000262498	NM_013242.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10793.1	.	RADIA|MUTECT|MUSE	.	TCCATGACAAG	NONE	.	.	.	.	.	ENSP00000262498	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262498	Transcript	.	.	ENSG00000070761	29523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CP080_HUMAN	C16orf80	HGNC	.	.	UPI000006E0AD	SNV	C16orf80,3_prime_UTR_variant,,ENST00000262498,;C16orf80,downstream_gene_variant,,ENST00000565880,;CTB-134F13.1,upstream_gene_variant,,ENST00000564672,;C16orf80,downstream_gene_variant,,ENST00000562443,;C16orf80,non_coding_transcript_exon_variant,,ENST00000562622,;C16orf80,downstream_gene_variant,,ENST00000564150,;C16orf80,downstream_gene_variant,,ENST00000567660,;C16orf80,downstream_gene_variant,,ENST00000567092,;	1057	17	12	SUCCESS
CTD-3105H18.16	0	.	GRCh37	19	12504023	12543797	-1	splice_acceptor_variant	Splice_Site	DEL	TTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGCCTGATCCATCCCACATGTACAGAGGAGGAAGGGTGAAAATCACAGTACTGAGAATCTATACTCACTTCATAAATTTCACATGATGCTGTGGTTTCCAACCATTTTATTCAATGACATGGTAAACCCACTCTTATTCTCTGTCTACACTCACTTTCTCCTACACAGTAACTCTGAAGCTACAGTTAAACATGTTTGGTAAATTAACAGTGGGATAGAAACATGCCACTTGTTGGCGAACTGAGTGAGTGAATCACATAGCCTGGATCACCCCTAATGTTGATTTCCACAGTGGGTCTGCAGTCCTTGGCACGATAAAGTCCTACTACTTATTGTGCAAAAGGGAGTTACCATTAGCAGTGCTGAGACTGTGTGTCCTTACAAATGCTTTTTCACAAAGTTGGGCTTTTCATGGTATCTAGACAGTGTATTTAGGGGAGGGCCCCAGGAGCGTAACTAATAATAGGGGTGGAGTGTGCCTAAATTGTTTACGCAAAAAAAATACAGTATTTCCTTAACCCCATCTTCCTTCTGAGAGTTTGGAATTTTGTTACATACTCAGCACAGGGAGTGCACCTGATCAGCCACTGCTAGGTTTGAATGGTTGTCCCCTCCAAAATGCACACTGAATGTTAATCTCCAAAGTGGCAGTAAAAAAAAAAAAGTGAGGTTTAAGAGGTGATGTAGTCCTAAGGGTTTGGACCTCATGAATAGATTAATCCGTAACGGGTGAATGAATAAATGAGCTATCTCATGTCCTTCTGAGAAGAGTAAGAGATCTGAGCTAGACACTCAGCTCCCTCACCATGTGATACTCTATGCCGCCTAGGGACTCTGCAGAGTCCCCACCAGCAAGAAGGTTCTCACCAGATGCCCAGCCTTAACCTTGGACTTCCCAGCCTCCAGAAATGTAAAAATTAAATACTGTTTCTTATAAATTACCGAGGTTCAGTAATTCTGTTATGAATAACAAGAAACAGGCTAAGACAGCTACAAAGAAACACTCTGGGCATTGGGTCTATAATGAACTTTCTGGGTAGATAACATTTCACGTTTTGTTGCAACTTGTTATTTGGGGGATTTAGCCCATCCTATGTGATTATACTTACAGAGAATATTTGGAAGCTGGCAACTAGTTTCCTTTAGATCAAATGTACTGAAGTATGACAACAGACTGAGAAAAGATATTACACCACCTCAAAGGAAAAATTTTAAACATTTTGAGTAACGCCAAAGGGGAAAGAAAGAAGGGGAAAGACTGCACATATTCTTAGAAAGAACTCAGTGTCATCTCTCATGAATATTTATAATACTTACTAAGAAACTAAAACAAATCTTTTAGTAGTCAACAAAAATTACATTACCAAATCTAATAGAACTCACAGTATCTAAAAAATGCTGAAAGCCTTCTCACCAAGAAAGTGCAGCATTCCAAAAACAAATAAAGGATTTTATTTGGCACCCCGTACTATTAACAGAGAGATAAATATATATATAAAGAAAAATGAAAACTGGTAGAAAAGTCTTGTGGAGCTTTTATTTGTCCTTGGCCCAATCCCTCCCCCTATCAATACCAGTCTTGAACACAGCAGCCTGAGTTCCCGGTATAGAACCCTGGACACTAATTCTAGAGACAGCATATCAGATCTTATTTGCAAATTATTGCCTTGCATTTTCCAATCTGTATAAGGACTATCCCGAGGTCTGAAACAAAGCTGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGCCACACAACCTTGGCTCACTACAACCTGACTCCCGGGTTCAAGTTATTCCACCCAGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCATGCTCCACCACATCCGGCCAACTTTTGTATTTTTACTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCGCCTGCCTTAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACAGTGCCCAGCCAAGGCCCTCTCTTCTACTTTATCTACAATACAACACGATCAGGGTCCAATTTGGCAGGAACTGCATGAAAATGTTGCAAAATACACAAAAAGCCTGTAGCCAACTGGAAGAACAGACTATGATTAAGACATACAGTAGACCAACTAAGTCATGGAGAAAAAGAGCTGAAGAGAAAATGTCCTCCAGATATCAGGGTACTCAAAAGCACCCAGGTATCCTGGGGAATTGAGAAAGCCCCATGCATGCACAGTAAAGAACACATTTTCACAAAAGACACCGGAGAAGAAACCCTCATTTTCACTTCTGGCTGATCTGTAGCTTTAAGTAAGCAGAACATAAAGCATAAGTAGAGTATTAAACAGCCTGGCTAAGTGTTCAAGGGATGCCCCAGGCACAGAGCCATCCACAAAGACTGGAAGAGGTCAGGCTTTTGTATGCTTTATCTTTTTTACTAGCTTCTAGCATTCAGGAAATCTCTGCCAGAACACTGGATGAACACACACTAAAGAACAGAGATGTCAGTTTCTACAACAAATAAGGAATACAGTCTGTGCAAACATACTTTGAAAATGTTATTAAACAAATGAACAATTACAGTCTTCAACACACATAAACAGAAAACAGTGAGGAAAGAAGAAGAATCCAATTTTCAGAATTACCCCATTATAACATTGAGATGTCTACTTTTCAACACAAAATTATGAAGAATACAGAAAAACATGAAAATATGGTTCATCAATTGGAAAAAATATAATTGAGATAAGCCATCTCTGAGAAACCTCAGACACTGCACTCACTGAATAAAAACGTTAAAACAACTATCTTAAATATGTTCAATGAAGTAAAGGCAATGATGAACAAATAACTAAAAGAAAACCAGAATACAGATATAGAGATAAAATAATATCTATTAAAAAGTAGAAATTAACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGTGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCCTATCTCTACTAAACATACAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGACGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCAACAAGAGCGAACCTCTGTCTCAAAAAAAAAGGGGTAGAAATTTAGCCATATAGAATTTATGCAGCTGCAGGGTACAACTAAAATGAAGACATCATCACAAGTGTTCAAAAGATGTGAGCAGCCAAAAAAAAAAAATCAGTTAAAATGATGATAAACCAATTGAAATTAATCTAATGGGGAAAAAAAAAGGAATGAAATTGAGAGAATGTGTTACTGGTGTACTTGTCTTGCCAATAATGTTAAAAGAAGTTCATCAGAGAGAAGAAAAATGATACAGGTTAGAAACTCAGATCATACACACACACACACAAACACACAAATATATACATATGCATATATATGAAGAGCATTAGAAAATAATTCAATGAAGGCACAAAAATTATTTCCTTTTCTTATTCCTATTGGATATCATAAAGGTTTGTTCAAAAAATAATATCAACAATGTATTGGGTGGTTATAGTTTATAATAGGGCAAATGGATGACGGTGATGTTAAATTGGGTGGGAGGGAGGAATGCTGAACACTGGGTTATATAAGCATTACCCCAAAAGCCAGTACAGTGTTACTTAAAACTGAAGGTCCATTTGTTGTGAATGGTTTACTCCAAATGCTAGGGAAATCAATAATAAAATGTTAAGAAACAACAGCCTGTCACAGTGGCTCACCCCTGTAATGCCAACACTTTGAGATGCAAGACAGGAGGACTGCTTAAGATCAAGACTTTGAGTCCACACTCGGCAACACAATGAGACTCTGTCTCTAGGAAACGTGTAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCCTGCACCTGTAGTCCCAGCTACTCAGGAAAGCAAGTAGGGAGGATCTCCTGAGCCCAGGAGTTGGAGGTTATAGTTAACTATGATTGCTCCACTGCACTCTAGCCTAGGTGATAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAAGAAACAAGTAGACTTACCATACTATTAGAAGAAAATACAATCATATAGACTCCTCAGTTAAAATAAAAGGAGACAGAAAAAGGAAGTTGAAAAAAACCGACAAGTATAACAAATGTAAAACAATTATATATGTACATATGAATCCAGGTATATCAATAACCACTTTAAATGTGTATTATATGAATATACCAATAAAAGAAGACAAGGACTGACACAGTAGAAAAAAAACAAGATCCACCAATGTGTGCAAGAAAACTATTTTTTTATTCTCTCAAGAAAACTATTTTAAGTAGAAAGACACAGGTACATTAAATATAAAGGTATGAAAAAATATACTCCATTCTAGCCCTAATCAAAAGCCATATGGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAAGCTGGTGGATTGCCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGCGAAACTGTCTCCACTAAAAATACGAAAGAAAAAAAAAATTAGCCAGGCATGGCGGCACGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGACAACAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGGTCTTAGCTGGAGGTGGGGGCATTGGCCTCAGGCCTCTCTGCCATAGTCAAAGCTACTCTCTTACCCTTCTATGCTTTACATGGATATTTAAAAACAAAATACTCATGTTTGATGAATCCAGGAAAATCACTCAAATTCAGTGTTTATGTCTATGGGTGGGAAGGAAATTGTAAGGCACTGATATTTTATACCTCAACAGGAAAAGCCCAAATACCTATCCCTTCCAGACAATGAATGTCATTTAATTACTATTTCCATGATAGTAAGTGATACAGTTAAAAATAATTATATTTTACTTCTTTAGCTGTTGGAAAGTCCTGTCCCACAGAATTTAGCATTCATCTGTCAAACCCATATAACAGGAACAGAACAGATTTCTCCATTGTCCCAAAATCTCCACCCTTTTAAAAAGGAGAACTGAACTTTTGTTAAATCCTTTTAATTCAATGTACCTACTACACTTTCTTGTAAAAATGTATTCCTTTTTTGCAGCCATAATGGAAGAGGGTTTTTTCCTTGGTAGTAGTTATACTACTAAGTCCTGAAATTCCATCTGAAATCATCCAAAAAACAAACACACCTGAGAAACATACTACACAAGCTCTGGGGCAAAAAAAATAAATAAAGGTTTTTAAAAAATGGAATAGAAGATTACATATACCATTTATATTCTGAAATCCAACTCTTTCTAGAATTACTTATACAATTTATTTTCTGAAGTCCAACTCTTTCCAACTTTGGGTATACTTTGTCTTCAAAGTATACAATAACAATCTCTAATCATAGGATGTATTTTAAGGTTAATCAAAAATTTAGGCTGAAAAGAGTAAACATATCTTTTCAAGCTAACAAACTCAGGAATCAGCAGTGCTGACTGGAACACAGAAAAGTCTAATGCAACAATCAGGGTGGGTCATCCTATCACCTGGGACATCCCTTAACCCTATTCTGGTCATCACCCTCCCAGGAGACACTGCCTTGTGTGCTTTTCAGGATCTTGCACTACCTCAACGGGCAGGTTCTCCAGTCCTTAGATATAACTTTCTACCTTTTAAGTCTGAGAGAGTCCAGAAGGCAAAAATCATTTCTGTTTTTTTTTCCTATGGAATATGACCATGAAATTGGCTGTTCAGTCATGTGTCTCCAAGGAATGGAAACTAGGGTTGGGAAGAAAAGGTGAGTGTCCCAGGAGTTAGCTTTTTACAGGAATTATATACCAGAAGATTCCTCCCATCCCAGTGGATCCAGTTGCTCCCCAGGGGGCCACACCCCCCATCTCAGGCTGTCCCCTGGGAGGAGTGACCCAGGGGATGATATTCACTAGACCCTCCAAGAGACTTGGCAGCTGTGGACACCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCGGCCTCTGTTGCCTAGGCTGGGATGCAGAGGCACGATCATAGCTCACTGCAACTTCAAACTCCTGGGCTCCAGCCATCATCCCACCTCAGCCTCAGGAGTAGCTGCGACTACAGGTGCCAGCTACCAAGCCCAGCTAATTTTATTATTATCATTTATACTAGAGACAAGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTACTAAGATTAAGCAATACCTCTGCCTTAGCCTCCCAAGGTGCTGGAATTACAGGAATGACCCACCGTGTTCAGGAACCCAAAATAATTCTTTCAAGAAAAAGCCATACATTGCTAGCTGAAAACAAGATGACAAACTAGTGAAATATCGCCTGGGGGCCAAACAGTTCATACCGTTGCTGTGAATTAAGGACAGAAGGTTAGCCTGGGGAAGTCTCTGGAAACCAAGAGATTTGCTGCCAGCCCTAGGAGGAGTCAGGATGAGAGAACACAGTGGTGGATTTGAGACCCTGCTAACCACATCTTTGGAAGACTCAGAGGGGAAACGGTCGCCCTTGGAAAGAAAGAAGGGACTGAGGACCACGGAGACCACAGCTCCTCCCACACACAAACCCCACACACGAGTCTGGATTCCACCTGGTGACTCGTCGTCACCGTGCAGCCTCCTCACCGGGTTCACAGGAACTGCGAGCCAGGCTGGAGGCGAGATTGCAGTTAGATATTAACCAGGTGCCCTCAGCCCCGCTGCCTCAAGGGGCCGCCTCCCTGAGAGTCAGGTCACAGCAGACGCTGACCGCCGGCTTCCCCATTGTGCCTGGGGATAAGATCTCTGAGAACTGCTCAAGAGTCGCCGGAGTTCTCAGATCCTGAATCCCAGCAAAGGCTGGCGCCAATCAGGTTGAAGTCCCAACGAGGGAGCCCATTCAGCAGAATGCGGTTTCTTCACCTCCTGTCCCAGGATTCACCCCTCACTTCCCCACCAACCAACGACCCTACACCCAGCCGCCCCCGTCCAGACCCCAAATCCCTCAGGGAGGCGGATCTGGGGTGTCCTCCCCTCTCTGGCTATTAAACTGTTTCTGCTGCAGCCCTCAGCGTCTCGGTGCAGTGAGTCGGGCCGCGAACCTGTGTTGCTTACAGCCGCACAATCTCGGGAGACGCGAGGCTGCGGGCGCGGAGCTGCCCAGAGAGGGCGCCGGGGCCGCAGTCGCCGCGCAGGAACGGGACAGGACGCCCGGGGTCCCGGCTGCATGCCCAGCCCCACCCTGCGGCCGAGGGCCGACCTACGCCAGGGGAACCCGGGTCCGTAGATCCCGGAGTAGCCCTTGGGGAGGCCCGGGTCCAGCCACAGCCGATTACTGCAGGTTCCACCCAGCCCCTCCCCCGCCTCGGGACGCCGGCCCAGCACACGCACCATTTCCCGACTTCCGCGGTGTCCCAGGTCCTCCGGACGGCTCCCGCTGCCAATGCGGGTTCCCGCGGGACACAGGCTGCCACGGAACTTCCAGGTCGTCTCTTAGCTACAGAGCCGAGCACCGAGCGCCCAGCGCAGGTGGGTGGAGAAGACGCCGCGGGCTTTTTCAACCACACACTCCTCTGGGAAGCGCGCCTGATTGACAGTTCCCACGAACCCGCCCCACGGCCCTTACTGGATACGGCGTCAGGTGCCGCCCCTCGTGGACTGATTGACAGAAGAAGCGATCTTGCACAGCTGAGTGGAGCCAGATGAGCAAGTTCCTGACACAGCCCTTGGCAGGGCGGGCTTCCTCCCTGCTCTTTGATCTGAATCCTCCCGAGGGATATTTGCACTTAAGCGGAATTTCCTGCCTGTACTCAATAGGACCTCCTGCTTCTTCCTCCTGTACACTGACTGACAAAACAATTATACTTTTTTTTTTTTTTTTTTTTTTTTTTCCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGTCTTGCTCCGTGGCTCAGGCTAGAGTGCAATGGTGCGAGGCTCACTGCGACCTCCGCCTCCTAGGTGGGTTCAAACAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACACCCGGCTAATTTTTGTATGTTTTAGTAGAGGCCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTTCTGGGATTAGAGACGTGAGCCATCGCGCCTGGCTCCAATTATACTCTTTTTCAATGAAATTTTTCAAAATATTTCAATGTACAATTAAATTATTTTTTACTATAGTCACTCTGTTGTGCTAGCAAATACTAGGTCTTATTCATTCTTTGTAACTATTTTTTATACCTATTAACCATCCCCACTTCCCCCATAACTACTCCTCGCTACTACTTTTCCCAGCCTGTGGTAACCATCCTTCTACACGTTTTTGGTTGTTTGAGATGGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGGGCCATCATGGCTCACTGCAACCTCTACCTCCCAAGCTCAAGCAATCCTCCCACCTCAGCCTCTCAAGTAGCTTCAGATTGTTCACTGTTGGCATATAAAAATGTTACTGATTTTTGTATGTTAATATTGTATCCTGCAACTTTACTGAATTTATTTCTCAGTTCTAATACTTTTTTGGTGGAGTCTTTAGGTATTTCCAGATATAAGATCATATTATATGCAAACCAGGATAATTTGACTTCTTCCTTTCCTTCCCAATATAGATGCCCTTTATTTCTTTTTTTTTTTTTTTTTGGACTTATTGCTCTAGCTGGGACTTCGAGTACTGTGCTGAACAACAGTGGTAAAAGTGGGCATTCTTATTGTGTTCCAGATCTTACAGGAAAGGCTTTCAGTTTTTCCTCATTCATTATCATGCTAGCTGTGGGTCTGCCATATATGGCTTTTATTATGTTAAGGTAGCTGCTTCTATACCCAGTTTTTTTTTAGGGTTTTTATCATGAAGGGATGTTAAATATTATCAAAAGCTTTTTCAGTGCACATTGAAATGATTATATGGTGTTTGCCCTTTATTCTGTTGAAATGATACATCACATTGATTGATTTGCATATATTGAACCATCCTTGCATCCCAGGGATAAAGCCCACTTGGTCATGATGAATGATCTTTTTGGTGTATTGTTAAATTCAGTTTGCTAGTATTGAGTTGAGGATTTTTGCATCAATATTCATCAGTGACACTGGCCTATAGTTTTCTTTTTCTGACATGTCTTTGTCTGGTTTTGGTGTCAAAGTAATATTGGCTTTGTAAAATAAGTTTGGAAGTATTGCCTTCTCCTCTGTTTTGGAATAGTTTGAGTAGGATTGGTATTAGTTCTTTTTTAAATGTTAGTAGAATTCAGCAGTGAAGCCACTGGGTTCTGGGGTTTTCTTTGCTAGCAGACTTTTTATTATGGCTTTGATCTCATTATTTGTTATTGGTCTGTTCAGGTTTTTTATTTCTTCATGGTTCAATGTTGCTATGTTCTATCTGCCTAGGAATTTATCAATTTCTTCTAGGTTTTCCAATTTATTGGCATATAGTTGTTCTTAGTTGCATTAATGATCCTTTGAATTTCTGCAGTATCAACTGTAATGTCTCCTTTTTCATCTCTAATTTTATTTATTTGGGCCTTTCTGTTTTTTTCTTAGTCTACCTCAAGGTTTGTCAGTTTTGTTTGTCTTTTCAAAAAACCAACTTTTTGTTTCATTGTTCTTTTCTATTGTTTCTTCATTTCAAATTCATTTATTTCTACTCTGATTTTTATTATTTCTTTTCTACTAATTTTGGGTTTGGTTTGCTCTTGCTTTTCTAATTCTTTAAAATGCATTCTTAGGTTGTTTATTTGAAGGTTTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTGATGTGAGTTTTACTTCACTCTTGCAGCCTAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACCCACCACCATGTCTGGTTAATTTTTTGTATTTTTAGTAGACAGGGTTCCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAAGCTCAGGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCGCACCCAGCCTGCAGGTCTTCTTCTTTTTTGATGTAGGTGCTTATATCTATAAACTTCCCTCTTAGTACTGCTTTTGCTGTATTCCATAGGTTTTGGTATGTTGCATTTTCATTATCATTTGTTTCAAGCAACTTTACAATTTCCTTCTTAATTTCTCCACTGACCAATTGGTCATTCAGAAGCAGATTATTTAATTTCCATATGTTTGTATGGTTTCCAGAATTCCTCTTGTCATTGATTTCTAGTTTATTCCATGTATTCTATGACACAATTTAAATTATTTCAATTTTTTTGGAGAGTTTTAAGACATGCTTTTTGAACTAACATATGGTCTATCCTTGAGAATGATGCATGTGCTCGGGAAAAATATGTGTATTCTGTAGCTGTTGGATAAAATGTTCTGTAAATATCTATTAGATCCATTTGATCTATAGTGTAGATTAAATCCCATTTAATCTTTCTTTTGTCTGATTTTTCAGTATATATTGAGATAATCTTTGTCGATTTACTGTCTGGAAGATCTGTCCTGTGCTGAAAACGGGGTGTTAAAATCTCCAGCTATTATTGTATTGGTCTCTCTCTCTTTTATTTTTATTTTTATTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCACGCTGGAGCGCAATGTTGCAATCTTGGCTTACTGTAGCCTCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCTCAGTGCCAGTCTTAAAGACAGCAGCCCGAGATCCCAGTATAAAATCCTACTCACTCAATTATCACCTTTGTATTTTCGAATTGGTATGGGGACTTTCCAAAGGTCTGAAACAAGGCTCTCTGTTCTATATCATCTACAATAACTCAGTCCCTGTCAAATTTGGCAGGAATTGCCTAAAAATGTTGTAAAATACATCAAAAGCCTGCAACCACCTGGTAAAACGGATTATGATTATGACATACCATCTCTGATGGTTAATACTGAGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGCCTCTGTGAGGGTGCTGCCAAAAGAGATTAACATTTGAGTCCCTGGGCTGGGGAAGACAGATCCACCATTAATCTGGTGGGCACAATCTAATCAGCTGCCAGCGAATATAAAGCAGGCAGAAAAACATGAAAAGGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATCAGACTCCAAGTTCTTCAGTTTTGGGGCTTGGACTGGCTCTCCTTGCTCCTCAGTTTGCAGACAGCCTATTGTGGGACCTTGTGATTGTCTAAGTTAATATTTAATAAACTCCCATTTATATATATATATATATCCTATTAGTTCTGTCCCTCCAGAGAACCCTGACTAATACACCATCTAAATCCTGGGGGAAAAAAGTTGGAGAGAAAATTTCCTCTAGTAAACTAGGGTACTCAAAAGCACTCAGGTATACTGGGGAATTGAGAAAGCCCCATGCATGCACAGGAAAGAACACATTTTCACAAAACACATGATAAAACCCTAATTTTCAGCTCTGGCTGATCCCTAGGTTTAATTAAACAGAAAATAAATGCTAAAGTAGGATTTTAAACAGCCTGACTGTGTTTTCAAGGAATGCCCCAGTACAGAGCCATCCACAAAGACTGAAAGAGGTAAGGTTTTTGTTTGTTTCATCTTCTTCTTTACTTTTAGCTTCTAACATTCCAGAAATCTGTCAGAACACTGAATGAACACAGAGGAATAGACATCAGTGTCTACAATGAATAGGGACTACAGTCTCTGCAAACACAGTTTGAAAATGTTACTAAACAAATTACAGCCTTCAACAAACATAAATAGCAAAGAGTAAGCATAATTTTGTTTTGATACAAACAAAATTATGAAGAATACAGAGAAACATGAAAATGTGGCTCATTGATGGAAAAAGTTTAATTGACATAGTTCATCTCTGAGAAACCTGACACTGGACTTACTGAATTAAAACTTTAGAGCCGAGCGCGATGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACAAGGTCAAGCGATTGAGATCATCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTATACCCAGCTACTCGGGAGGCTGAGGCAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATTACGCCACTGCACTAATGTCTGGTGACAGAGTTGGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGGACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAACCAAAAAACTTTAAAATAACCGTCTCAAATATGTTCAACAAGGTAAAAGCAATGATGAATAAAGAACTAAAAGAAAACCAGAAAACAGATGTAGGGATAAAATAATATTAATTAAAAAGTAGAGGCCTGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAAGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTTCTTCTCAAAAAAAATAAAATTAAATTAAAAAAGTAGATATTGAGCCATATAGCATTTATGCAGGTGCAAGATACGACAACTAAAATGAAAACATCACTACAGGTGTTCAACAGTTGTGACTAACTAAAGAAAAACATCTAAAATGAAGACAAAACAACTAAAATTACCCAGTCTGAGAGAGGAAAAAAGGAACAAGGATGAGAGAATGTGTGACTGGTATACCTGCCTTGCCAGTAATGTCAAAAGAAGTTCATCAGAGTGAAGAAAAAGGATACAAGTTAGAAATTTGGGCTGGCTCAGTGGCTCATGCCTATAATTCCGGCACTTTGGAAGACCCAAATGGTAGGATTGCTGGAGCCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAAACTCCATCTCTATAAAAAATAAAAAATTAGCCAGGCATGGTGGTGCACATCTGTGATACAGGCTACTTGGAAGGCTAAGACAGGAGGTTAACTTCAGCCCAGGAGATGGAGGCTGCAGTTAGCTATATTCCTGTCACTGCACTCCAGCCTGAGTAACAAAGCAAGACCCTATCTAAAAAAAAAAAGAGAGAGAGAGAGAAAAAAAAAGAACTAGAACAAATTCTGGTCACACACACACAAACATATATACACAAATACATACAAACATACATATGCAAACTACATAAAATATATGAAAAGAATTAAATGAAGGCACAAGAAAACTCTTTCCTTTTCTAGTTCCTATCTGATGTAATAGATGTTTGTTCAAACTAATAATATCAACAATGTATTGGGTAGTTTAGCTTATAATAGGGCCAATGAATGACAGTGATGTTATCTGGGATACGAGGGAGGAATTTGGAACACTCTGTTATACAGGCACTATACCAGAAGCCAGTATGATGCTTTGTAAAACTAAAGGTCCATTCATTGTGAATGGAATACTCAAACTCTAGGGAATTTACTGGTAAAATTTAAGAAACAATAGCTAGTTGGGTAGCTCATGTGTGTAATCCCAGGACCTTTAGGAGGCCAAGGTGGGAGGATTACTTGAGCCCAGAAGTTCAAGACCAGCATCAGCAACATAGTGAAACCCTGTCTCTATAAAAATTTTAAAAATATCTTGGGCATGGTGGCACAAACTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGTGGGATCTTGAGCCCAGGAGTTTGAGATCACAGTCAGCTATGATTGTGCCACTGCACTCCAGCATGTATGAGAGACCCTGTCTCAAAAACAAAAAAGATTCTGTCTCAAAAGAAAAGAAAAGAAAAGAAAATGAAACAAGTAGTATAGTATAATAAGTCTACTTACTCTACTTCCATTTTCATAAAATTTCATTTCACATAGTAATAGATTTACTATACTAATAGAAGAAAGAAAGAAAATGGAATCATATTAAATGCTCAGTTGGAAGGAAAGGAGGCAGAAAAAAAGAAGTTGAAAAAACAGACAAACATAACACAATTACATATGTACGTAGTAATCCAACTATATCAATTGCCATTTAAACATGTATTATCTATAGATACCAATATAAAACAAAGATTGATAGAGTAGAAGGAAAAAACAAGACCCATGAATGTATAAAGAAAACTATTTTAAATAGAAAGACACAGATACATTAAATACAATGGTATAAAGAAATATATGCCATTTTAGCCCTAATCAAAAGGAATATGGAACAGGCTACATTAGACTCAGATAAATCAGGTTGTAGATCAAGGAAAATTACAAGAGATAGAGATATTTCATAATGATAAAGTGCTCAATCCTAGAGACATAATAATCCTTGATATGTATGTCCAGAAAATAGAGCATCAAAATGCATAAGGTGGCTGGGTGTGGTGGCTCACGCCTGTCATCCCAGCACTATGGAAGGCCGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGTGTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGCACTCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAATTGTGAAACTCCACCTCAAGAAAAAAAAAAAATGCATAAGGCAGCAGTCCCCAACCTTTTTGGCGCCAGGGACTGGTTTTGTGGAAGACAATTTTCCCATGGAATTGCGCTGTAGGGGAATGGTTTCTGATGAAACTGTTCCACCTCACATCATCAGGCATTAGATTCTCATAAGGAACGCACAACCTAGATCCCCTTGCATGTGCAGTTCACAACAGGGTTCGCGCTCCTATGAGAATCTAATACCGCCACTGGTTTGACAGCATGTGCAGGCGGTAATGCTTACTGCCTGCCGCTCATCTCCTGCTGTGCCACCCGGTTCCTAACCAGCTACAGACCAGTACTGGTCCACAGCCTGGAGGCTGGCAACTCCTGGCATACGGCATAAATTTATAAAACTGCAAGGCAAATACACAAATCCATAATTATAGTTGAAGGAGAACAATTCCCCTCTATCAATAATTGATCAATTGAGTAGAAAAATCACTAAGGACATAGCTGAACTCAACAGCATCATTAATCAACTGGATTTAATTCATATGTATTTATAGAATACTTCACTCAACACCAGAGTACACATTCTTCTCCAAACTACATAACATATTCACCAGGATGGACTATATTCTGAGCCATAAAACCTACCTTAACAAATTTAAAATAGATATTCTGTAAAGTATGCAATCTAACCATATTAGAATTAATCTAGAAACCAGTAACAGAAACACAGTTGAAAATCTTCCAGAAAGTCGACATTTGAACAACAAACATCCAAAATACATGAAAGACAAACCGAACTGTCAAGAGAAATTTAAATATTCTGAAGTTGATGAGAAAACTATATCTTAGGGCCAGGCACAGTGGCTCACGCCCATAATCCCAGCACTTTAGAAGGCCAAGGTGGGTGAATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGTGCACACCTGTAGTCCTAGATACTCGGGAAGCTGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAAGTTGCAGTGAGCTGAAATCATGCTACTGCACTCCACCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAACAAACAAACAAATATATATATATACATACATACATACATACATACATATACACATACATATATATACATATGTGTCTGTGTATATATCAATGTCTGTGTGCATATATATATATATATATATATATATATATATATATATATATATCTTAGCCAAAAACACTTTTCATAGAGATGAGATCTATATTCCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTACCACCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAACCATAATGCCCAGCCTTAGCGAAATGTTTGAAATGTAGCAAAGGCAGTGTTTACAGGGAAATTCAAAGAATTGAATGCAAACTCTGGAAAATAAAGATCTAAAATCAATGCTCCATTTTGAGAAACTAAAGTTCCATTTTGAGAAACTAAAGAAAGAACTCCAAGATAAATCACTCAGAGGAAAATTACAATGAGAATATATTAATGAAATTGCAAACAAGATATCAATTAAAAACATCAATAAAATCAAGAGCTAGTTCTTTAAAAAGACCAAGAACATTGCTAAACCCACAGCCAAGCCAACTCAGAAAAAAAAAGGGGGCCATCACTACTATTCCTATGCACATTAAAGTGACCATAAGGGACTATTCAGAGCAATTGCATGTCTACAGATTTGTTTAATTACATGAATGGGCCAATTCCCTGAAAGACAAAATCTACCAAAACTCACAAAATTAGACCCATGTAATACGAACGGGCATAATCTATTTAAAAATTGGAATCACTAAATAACAAATGTCCCAAGAAAAAGGAACCAGACCAGGATGGTTTCACTGGTGAACTCTGGCAAACACTTATGGAAGAAATGACACCAATTTTCTACAATCTCTTCTGAAAAAGAGAAGCAGAGAGAAATCATGTTATAAGGCCAACATTGCCCTTGCACTGCAACTAGACAGATGATACAGACATATCTCCGCCATGTAAGAATATAAAAGGAAGACTGCTATCTGCAAACCAAGAAGCAGGCCCTTACTAGAGACTTCATCTGCTTGAACTTGGAAACCCAGCCTCTACATCTTTGAGAAATGTTTGTTGTTTATGGTATGCAGCCTGTGGTAATCTGTTATAATAGCTTGAGGTGACCACACATCAAGGCTTTGAAGTCTATAGTAATGAGGAGAGTATGGTATTAACCACAATGACTAAAAGAGAAACCAATGGAAAATAGCCAATTCTAAAACAAGATCACCAATTTAAGACACAAGAACCTATGACATGCAGGTATTAGCAGGCAACGATATAAATGGGAGACACTTCAACACAAAAGACAGGGACAAATGGTTATCTTCAAGAGAAAAATCAATTTTCTGCTCATCATCTTCACATACAATAATCAACTCACTATACACCTACCTGTTTTGTGAATTCTTATTCACTTGATATTGCCCCAGTTTCCATTTTGGTTTTTCGTTTTTGTTTTTTTTGAGGCAGACTCTCACTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGATGCGCACCACCACACCCCGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTTACCATGTTGGTCAGGCTGGTATCGAACTCCTGGTCTCAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTAAGATTACAGGCATGAGCCACTGTGCCCAGCCCAGCTTCCATTTTGAATTTGCTTTGAACACTCTCCAAGCAGAAAATGGGTTTGTAATCTCAGATACACTTTCTTGTTCTCTACCTCCTCCTCCTTCCTCAATGTGGTTGATCCAGATATCTCCCTTACGTAACCATCTTTCTGTCACCATGTCCCTATGGGACAGCTAAATACAACTTGCCTGACTCACCCCCCACAGCCCACATGGACTGCAGACATGTGTAGCAGTGACCACCTCTCAGTCAAAGCTGGACTCTGGGGAACTTGCGCATACTTCCTTTTAAACACACCAATTAGAACTCCCCAAGAGAAGCCTGGTTGGGTAACCCCTGGGCCCCAATAAAGGCTTCAGCTCATGAGTCCCCCTCCCTCTCTTGTTCCGCACATACTGGTCAAGTGTCCATGTAACTCAAGACCGCTAACTCTTGGTCTTCAAGGCATGCTAATCTCTTCTGTCTAGGATGTCTATGTAAATGCACTGTTTCTATTATTTCCTGTATTTTGTTGAGTTGCCTTTTCTATGTCGCACCTGACCAACACATCTGAACCTAAGTTCTATCCAGATCAAAGCTCTCTTTGTAGGATTGTCTTGGCTGCGGCTGTCTTGGTAGAAATAAAATAAAAATTTGTCAGAAAAAAAAAAAACCCACGAAATGTCAGCAAAAACAAGTGTTCTTGAAGAGGAACACTTGGTCACTAGTCTGACATTTAGGCATTATTAGGCCCCGACCAGGAAAAAGAAAAACCTAAAGGGTCACATTTGGCTGGCTTCCAAATTAATCTACCTGGGGGAGGTCTTCTGATCCACGGCCCACATCCTGTCCCTGAGTAAACAATCTTATCCTGGGCTGGGGGTGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGCCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATAGAAAATTAGCCAGGCATGGTGGTGCGTGCCTGCCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTGATGGTGAGCGGAGGCTATGGTGAGCCGAGATCACACCATTGCACTGCAGCATGGGCCATAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGAATCTTATCCTGAGTCCCTCAAATCATATTGTGAGTTCTTCAAACTGCTGATGCTCTCATTAACATGTAACCTACTGACATCAAAAAGGATCCTGATTCGTTTCTAAATCATGAAGTTTTCCTGATTGTCTTCCATGTAGAACCTTTTAGCCTGTATGTTGTCATGTGTAACCAATGTTTATAACCTCTGAATTGTACCCTCCAATGAAAAGGACAATTCACCAATGAGGAGTCCCCCTCCCTTCTCCTAAAGGTTCTTAGGAAAGCGTCTGATTTGTAATGGAGGTTGGAACACATCCAAATTTGCTGGTGTGTCTTCCTGGGTCAATCCTCAAATTTGACCAGTAAACCTACATAAAATGACTTCTACCTCAATAGCCTTAATTTAGGTCAACAGAAGGCTCTCAGAAAGGCACAATTTCAGAAAATGAAAGCCCACAAGGGAAAAATGTTCTGCACCAATGCTAATCAGTAAAAACCAATATATACTCATATGGAGATAAATAAAAGATAAGTCTTTGTAAGGAATAAACACACACATGCGTACACGGTCAGACAGGTAATGTACACATGCCATTAGAATTTCTTAGAAAACTTAAATTCATCCATAATCTACGACCAGTAGTGGGAATATTGAGGAGAGAAAGTTACCCCCTGGGGAAGGCTCTGGAAACCAAGGGACTTACTGTGACCCCTATAAAGAGTTAGGTTGAGGAGACAGGACGGTGGATTAGACAGGATGGTGGACTTCAGACTCTGCTGTCCAGGGGAAGGGTCCGCAGACCGGGTAGTCGCCCGTAGGGAAGTCTGGGTCCTGCCCCAGCTGGTAACAGCTGGTTCCAACCAACCCCTCCTCCCGTCTCCGGACCCCTAGGCCGTGCACACGCACCATTTCCTGGCTTCCACGGTGTCCCGGGGTCTTCTCTACGGCTCCTGCGGCCTGTGCGGGTCCCAGTGTGCCAGAGGCTGCCACAGAACTTTCAGGGCGTCTCTTAGCAACAGAGCTGGGAACCAAGCGCAAGGAGTGGAGAAGATGCCCTGGGCTCTTGGAACCTCACAGCCTCCTCGCGGCAGCTCCCTTATTCACAGTTCTCACGACCCCACCCCACGTCCCTGATTGAGTAGTGTACCATGTCCTGCCCCCTGGGGAACTCAGTGACAGAAGAAGGTATCTCTTGGTGCTGAGTGGAGGCAGAAAAACAGGTTCCAGACCCAGACCCTCACAGAGCGATCTTCTTGCCTAGTGGTTCCTAGTGCTGTGACCTTATCCCGCCCCTGGGGACATTTGCATGTGGGCATAATTTCCCACCTGTACTCAATGAGCTCTTACTACCTCTTCCCCTGGACAGATCACAAGTCTGTGCTGGGAATCCCAGACCACTGTCCAGTGGAGCCATCCCCTAGCCTCAGAGCAGGAGGGGAGCCCAAGCCACACAGGCCACCCTGCAGCAGGAGGGAAGGCCTGATATCCTCCAGGGATCAGGAATTTCAGATGGGGCTGCTGGCGACATGGCCAAGCCTTTCTCCCACCTTATCTCTCAATCTACTCATTTTCAGCTCATAAAAGCACATCAACAATGAAATAAAACTGTTACATGCATGGAAAAACTGGAATTATAAGGCAACAGTCTTCTATAAAGGAATCAAAAGAGAAGAAAGGAAGAAACATGAACTAGCTCAAAGCAGCAGCCTGCTGAACCCACAGTTCACAAGCAAACTCCCTTTCAGGAGGTCAAACAGATTCCCAAGCTTAGGAGCCAAACTCTGACTCCTGAAACAATCTAGTGATGAGGCAGGGACATGGAAGCATTTAACTTTTGGCACTCAACTCGCCCTCCTATCCTGCTTGCACACTGTGGAAACACTCCTTTCTTCAACACTTTAAATGTTAACGAATTAAACGCTCCAATCAAAACCTGAAACATTAGACTTTGAATCTGAAAACATGAGTTTTGCCATGTTTTTAAGGACCAGACATAAAAGCATTGTGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTACCTAGCACTACGGGAGGCTGAGGCGGGCGGATCAGCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTTCCCGGGAGGCTGAGGCAGGAGAATCGCTGGAATCCAGGAGGTGGAGGCTGAAGTGAGCTGAGACTGTGCCATTGCACTCCAGCCTGGTGACAAAGCGAGACTCCACCTCAAAAAAGAAAAAGCATCATCAACTGAAAGGTGGAATCCATTGCTAAAAGAAAGGAACCAAACATGAGGTGTCATCAGATTAAATGAAATCTTCTATTTTTAAAAACTGTAGCTTTTCCTGACAGGGAAAATGGGCATGTTTGGCAAATAAGAAATAAATGATGTCTGATTATAACTCATCAACAAATAATTTTCATGTCTTAAAAAATGACATACACACACACAGTCTATTATCACAAGATTTTGTTCCCTCCTTGAAGGATAAACTACTGCTCTGCAAGATGCTCCACCCTTCACTCCTCACATTAACTGCTGCTAGCATATTTATTTGTTCCAAAACAGGTATAAAAAGAGGGTTCAGTGTGTCAAACTACATGATTGTTAGAGGTTTATGTACAGATTTTGTATATTTTTACAAACTGCACCAGTTAAGTAGTTGATTTATGTTGTTTTTGTTTTTTGTTTGTTTTTAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCAATTTCGGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCTTCAGTCTCCCAGGTAGCTGGGATTACAGGCATGCATCACCACTCCCGGCTAATTGTTTTTTGTTTTTAGTAAAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAGCCTACTGTGTTGATTCTTACAAAAGCTCTAGTACAAAAATAAATGTTCACGTTACCATGATGAAAAACTCAGGAATGGTGACTCCTCGATTCCTCTGAAAAACAATTTTTTTTAACCCTAAGAGAAGCTAGGAAGTCTACAGTAAATGGCTGGAGGTGATCCCTGAGAGAACACATTTTAGTGGAAAAGGTCACTCATGGAAAATACCAAAATTTATATGTAGCAGTTTAAATATACTACAGGAAACACTGCGATTACATTCTTCAGTTACCTCTATGACAGCATGATGGTTTTTTTTTAGGTAGGGTGTTTCTTTTTGGTTTTCTTTTAAAAAAGAAAACTGTAGGCTGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCATATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGTCATGGTGGCGGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACTATAAATCTTTCCCCACAACTGTAAATCTTTCTCATTCATAGAGATATCTTCCTAAATGTGCTACTAAACTTATATTTATATTTTCACCATTTCAGTGTGACTTCATTTTAATGCATGCTGTTATAAGGGTCTCAGTTGCTCTTCTCTGCAGGTCAATATCTGTTGCGGGAAGTCAGGGACACCAAATGGAGGGACCGGCTGGAACCGTGACAGAAGAACATAAATTATGAAGATTTCATGGACATTTATCAGTTCCCAAAATTAATACTTTTATAATTTCTTACGGCTGTCTTCACTGCAATGTCTGAACATAAATTGTGAAGATTTCGTGGACATTTATCAGTTCCCAAATGATATTTTTATAATTTCTTATGCCTGTCTTTAATCTCTTAGTCCCGTTATCTTCGTAAGCTGAGAATGTACATCACCTCAGGATCACTATTGTACAAATTGATTATAAAACATGAAATCAGTGCACCTTAAAAAAGAACAGAATAACAGCAATTTTCAAGGAACAAGGGAAGATAACCATATGGTCTGACTGCCTGTGGGGTCGGGCAGAATAGAGCCATATTTTTCTTCTTGCAGGGAGCCTATAAACGGATGTGTGAGTAGGAGAAATATCACTGAATTATTTTCCCAGCAAGGAATACCCTGGGGAAGGAATGCTTTCCTGGGGGGTGGTCTATAAACAGCAACTCTGGGAGTGTCTGTCTTACGTGGTTGAGATAAAGACTGAAATACACACTGGTCTCCTACAGTACCCTCAGGCTTACTAGGATTGAGAAATTCCAGCCTGGTAAATTTTGGTCAGACCGGTTCTCTGCTCTTGAACCCTGTTTCCTGTTAAGATGTTTATCAAGACAATATGTGCACAGCGGGACATAGACCCTCATCAGTAATTCTAATTTTGCCTTTGCCTTGTGATCTTTATCACCCTTTGGAGCATGTGATCTTTGTGACTTACTCCCTGTTCACACATCCCCTCCCCTTTTAAAATCCCTAATAAAAACTTGCTGGTTTTGTGGCTCAGGGTCGTCATCACGGTCCTACCAATATGTGATGTCACCCGTGGAGGCCCAGCTGTAAAATTCCTCTCTTCGTACTCTTTCTCTTTATTTCTCAGACTGGCCAACACTTAAGGAAAATAGAAAAGAACCTACACTGAAATATTGGGGGCTGGCTCCCCCGATAAATATCCAATTTTCCTAGCACCCTGTTGAAAAGACTTTCCCCATTCATGTATCTTGGCCTATTTGCTGAAAATCTATTAACGGTCAATGAAGGGTATCTTTATCTGTTTCTGCTGATATAATGAAATACTATAGATGGGGTAACTTATAAGGAACAGAAATTGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGTCATGGTGGCGCATACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGTATGCAGTGAGCCAACATCACGCCATTACACTCCGGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAACAGAAATTTATTTTTCACAGTCCTAGATACTGGGAATTCCAAGATAAAGGTACTAGCATCGGGTGAGGGCCTTCCTCTTGGATCTTCTGGAGGGAAGAAATGCTTGCATCCTCACAGGGCAGAAGACAGAAGGGCAAGAGAGGGCAAACCCCATCCATCAAGCCCTTGTAGTGGCATTAGTTTATTCATGAGGGCTTTGCCAAAAGGCCAAAGGCCTGCCTCCCAAAACTGTTTCACTGGGGATTAAATTCTAACCTATGAATTTTGCAGGGGAAATAAGCATTCAAACCATGGCAAAGGGGATGATTTCTGGACTCTCAGTTCTGTCTTACTGATCTGTGTATCAGACATTTTTCCAGTAGGTCTGGCTACTATAGTCCTTGACCTGATGATGGAGAGCTCCACCCCATTCCACATGATTGTCATGCACGGATAGAAATGGTCCTAAAGCCTCCAGAAGATCTCCTTGACATACTCTTAGACAACATAGACTTACTTCTATTTTGGGATAGCTCCTGTAAATGAATTGTTAAGGAAAACATAATAATGGGTTATGCAATATTTTCTTTCTTTGTTTTTTGAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATATTGGCTCACGCAGCCTCTGTCCCCCTACTCAAGCAATCCTCCCACTTCAGGTTTCCGAGTAATTGGGATGACAGGCATGCACCACCACACTCAGCTAATTTTTTAACTTTTTATAACAACAAGGTCTCACTCTATTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATTCTCCTACCTTGATATCCCAAAGTGTTGGGATTACAGGCATGAGCCATCATGCCTGGCCTAGGCAATATTTTCTCTACATGAAACACTTGAGGCATACTCTTCACTCACTGTAAAATCAGTATGAGCCTAGAGCTCATAGCTCTTACTACATCTTGCACGCTGACAAACAGGAAAACTGCCTCTACTGACACAGACTGCAGATATGCTTTTGGAATTCCTTATGCAACTGGCACAATTTGAAAAATTTGTGGATTCACAACTTGTTCTGGTATACCCACTGCCGATAGACACATAACTGGGCTACTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTGTGTTGCTGGGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCACCACTATGATCAGCTAATTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACCACGCCCGGCCCATAACTGGTGAACTATTACAGATGATTTGCCTCCCTATTAAAATGGCCACTGTTCACTGTCTAGTCCATACTACGGAGATTTATACTATATCTCTAGGGAATGATAGGGCTCAAAAGATTGCTAAATAGGAAGCCAAAAATGGTACCTTGTTCTTTCCCAATCCAGTTTGCAAAACTGCCTTTACCCGTGACTGATATTATCAAGTAAATGTCCCATAATCTAAGAAGATCTATAGATACAAAAGGGAAAAATAGTATTGTAGAGATTATACATTAGGCCAGTCACACTCCCTGTGCTATTAATACTTTCCTTCAATCTTTTCCCTTACACAAATCTCTCACCAAGTTGGACATAGAGGCAGATGGGAAAGAGTTAAGAAAACGAAAGACAACTGACTGGCCTGGCATCTACAAAATTACTGACCCACTTATTTCTCAGTGCATTACTTGTAACCCACCCAATTTCTGGATGAAGCTCACAAATTTCACAGAATCCTCCAACACCCACACTGACCCTCCCAGCCCTCCAAATGGATGGTTTATCTACAACTGTAGTCAATTCTCATTGTTTAGTGATTGTCTCCATGTTTAGTGGATGGGCGCAATGCTATACAGCTAGACATGATGATGCCATCAGTGGTAAATAATTAATCATTGAAATTATTCCTGGTTTTAGTATTCTTTTGTGGACAGAACAAAACCAATGAGGTAATTTTATATGTGCTGCTGAAGCGAGCACAACCAAGGAGGTAATTTTATAGCTGATATAAACCACATTCTTGCAAAAACTACGGAAGACTTATTAAAATACATACCATCCTTAACCATCAGAGCAAAGAGAATATAAAAATCTAAACATAAAAAGGACTTTAGAGAAATAGCTGTCAAAACACTGGACTTCAATGGCCAGAAGCATTAGCCCTGGCCCTTATAAAAATCTGAAATACTACCAACAGTAGACATGGATTATCTCCTTTTCTGTAGTTTTTGGGTTTTGGTTGCACTGTAGCTATTGGTATATCTAAACTTTACATTCCTGGATTGAGTAAATATTCTTGGGAATGAAGTGAACAATATGATGCTATGACTAGCTACATGTAAGAACTAACCAGTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCAAAACTAGTCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAGTTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGGAGGATGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCGACACAGTAAGACTCCATCAAAAAAAAAAAAAAAAAAAAACTAACTAGTATATTTGGAGCATGTCATCAACAGGTTAAAAAAAATGCCATCACTTTTGACCAAAAGATAAGGTATTTCCAGGTGTGGTGGCTCAGGCCTGTACTCCCAGCCATTTGGGAGGCCAAGGTGGGAGGATAACTTCAGTCCAGGGGTTCGAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCTGTAAAAAAAAAAAAAAAAATTAGCTGAATGTGGAGATATGTCTCAGTAGACCTAGTTACTCAGGAGACAGAGGCAGGAGCATCACATGATCCCAGAGTTTCAAGGCTGCAAGGGGCTGATCATGCCAGTGCACTGCAGCCTGGGCAACAGACTGAGACCTTGTCTATAAAAAAATAAAAATAGGTCAGGCACAGCGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGCTGGATCATTCAAGGTTGAGAGTTCGAGACCAGCCTGGCCAATATTAAACCCCATCTCTACTTAAAAATACAAATATTAGCTGGGCATGGTGGTGGACGCCTATAATCCCAGCTACTCGGGAGTCTGAGACATGAGAACCACTTGAACCTGGGAAGCAGAGGTTGAGTGAGCCGAGATTGCACCACTCCTCTCCAGCCTGAGTGACAGAGTGAAACTGTGTCTTCGGAAAACAACAACAACAAAAGAATATTATTCAGGCATAAAAAAGCAATGAATTACTGACATATGCTACCACATGGAGGGAACCTGAAAACATGCTAAGTGAAATAAGCCAGACACAGAAGGACAAATATTGTATGCTCCACTTATTTATTTTTTTGATTCGTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCATGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGTTAAGTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCATGCCGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCTAGATGCTCCACTTAGTCAAATTCACAGAGCAAGAGAGTAGACTAGACGTCATCAGGGATTGAGTGTAGAGAAGGGAAGTTGTTTTTTAATGGGTACTGAGTTTCTGTGTGGAGCGATGAAAATCTAGAGATAATTAGCTGTAATGGCTATAACACATTGTAAATGTATTTAATGCTCCTGAATGACACACTTAAAAATGATTAAAGTGGAAATTTTATGTTAGTACATGTTACTTCAAGACAATTTATGAACAAAAGAAAAGACACAATTCAAGCTACTATATATGAACACAACAATATCTAGAAGCACTGGATGGAGGTTGGTGTGGTGGCACATGCCTCTAGTCCCAGCTACTCAGAGCCTGAGGTGGAAGGATCGCTTGAACTCAGGAATTCAAGCCCAACAGGGGCAACTAGTAAGACCCTGTCTCTTAAAAAATAATAATAATGATAATAATAATAATAATAATGCACTGAATGGACAAAACAGCAGAGGAGATATTGCTGAAATAAAGATAAGTGAACCTCAAAAACTAGGAGTATAACCGATTTAAAATATAGCACTCAGACAAAAAAATGAACAGAACCTCAGTGAGCTGTGTAATGGGACAATTGTACAAGGACTCCTTGAAAGACAGGAGTAAAAACAGAACAAACAAAAAATATTTCCATAAATATTTCAGGCCGAGCACAATGGCTCAGGGGTTTATTGAGCTTTTTGGATCTCTAGGTTTATAGTTTTCATCTAATTTGGAAAATATTTGCTGTAATCCCAGCACTTTAAAAGGCCGAGACAGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCATTTGAACCTGGGAGGCGGAGGTTTCAGTGAGACAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAACAAAACAAAACAAAACAACAATAACAAAACTAGCAGTAACAATATGTTTTACACAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAAAATTAAAAATTAGCCAGATTGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCTTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCAGAGCTTGCATTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAAAAAAAAAAAAAAATTAGCCAGGCATGGAAGCTCACACCAGTGGTCCCATCTACTCAGGAGGCTGAGGTGGAAGGATCACTTGAGCCTTGGAGGACGAGGCTGCACTGAGCCATATTCATGCCACAGCACTCCAGCCTGGGTAACAGAGTGAGACCCTGTCTCAAAACAAACAAACATTTGTCGCATATTTTCCAAAACAGATAAAAATTATGAACCTACAGATGCAAAATGCTCAACAAACCACAGGCACAATATATATCAACAAATCTACACCAAGACACAGCATCAAATTGCTGAAAACCAGGTATAATAAAAAATTCTTTAAAGAAACCAGAGAAAATAGACACCTTAACAACAGACAACCAAATGTAACATTGATTACATACTTATTATCAGAAACAATGCAAACAGGAAGACAATGGAGTAACATCCTTAAAGAACTAAAAGAACAAGGATATCAACAAAGAATCTTATATTGAGCAAATAATATCTTTCCAAATGAATGGAAAATACTTTATTTAGTCATAATAAATGTGTTTGCAATCAGCATATTGGCTCATTGAGAAAGGTACAGCCGGGTGTGGTGGCTCACGCCTGTAACCTGAGCATTTTGATAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGATTTCAAGATCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTATAAACACAAAAATTAGCTAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGGAGGATGCAGTGAGCCAAGATCGTGTCACTGCACTCCAGCCTCGGCGACAGAGTGAGATTCCGTCTCAAAAAAATAAAGGTCCAGCTGGGTGCAGTGGCTCATGCCTGTAATTGCGACACTTTGTGACGCCGAGGCGGGAGAATTGCTTGAGTCCAGAAGTTCAAGACCAGCTTGAGCAACACGGCAAGACTCCATCTCTACAAAAAAATTAAAATGGCATGGTAGTATGTGCCCGTCCAGATCACTGAATCCGTAAAAAAAGAAAAACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGTCGAAGCAGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACAAACATGGTAAGATCCCATCTCTACTAAACATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGACGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGAAAGCAGTGAGCCACGAGATCATGCCATTGTACTCCAGCCTGGGTGAGACAATGAGATTCCATCTCAAAAACAAAGGAAAACAAAACAAAAACCAAACAAACAAAAACCAAACTGGCTGTCTTACTACTGGGGTGGCTGAGTAAGTCCTCTAAACTACTATTCCTATCAAATGGTCCTTGGACACACCCTTAGAGTTTTCTCTTCCCAAGATGATTTTTCATCTTGGTAATATGGATAGACTGGGAATTTTCCAAATCTTTTTGTTTCAGTTCCATCTTAATAATTCCATCTCCAGTCAAGTCTTTCCTCACATTAGTATATGCAGTCAAGAGGAACCAAGCTGCCTTTTTCAACACTTCTTAGAAATGTTGTCAACTCAATATCCAATTTCATCACTTCCTAGTTCTACTTTCCACAAAACTAGCACAGGACCACGATACACAAAGTTCTCTGCCACTTTATAAGAAGAAATCAACTTTTCTCCATTGTGTAATAACATTAACCTCAATTCTCTTTTTACATATATTTTAGTTTGTTTCAGAAACAGGGTCTCACTCTCTCTCCAGCCCAGGCTGGAGTGCAGTAGCATGACCTAGCTTACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCTGGTGACCTCAGCCTCCCTGGTAGCTATGACTACAGGCATATACCACCAAGCCTAGCTAAATTTTCCTTTTTTCTTTTTTTGTAAGGATGAGGTCTCACCATGTTGCCCAGACTGGTCTTGAACTCCAGGCCTCGGTTGGGCATGGTGGCACACACCTGAAGTCCCAGCTACTTGGGAGGCCTGAGGCAGGAGGATCTGTTGAGCTTAGGAGTCGGAGGTGGCAATGAGCTATAATCACGCCACTGCACTCCAGCCTGGGCAACAAATTGAGATCCCCATTTCCAGGAAGGAAGGGAAAGGAGAGGAGGGGAGGGGAGGAAGAAGAGAAGAGAAGGGAAGGGAAAGGGGAAGGAGAAGGGGAAGGGGAAAAGGAAGAGGAAGGGGAAGGGGGAAAATCCAAGCCTCAAGCGATCCTCCCATCTTGGCCATTCAAAGTACTGCCATAACAGGCATGAGCGACCATGCACATTCCACTTTCATTTTTGAGGATCCACTCTCATAATCTAACCTAATCCTTATCATATCTCAAAGAAACCATTGCCTAATACTGCCACATCAGGGAAGTGGAAAAATAAATAAAATTTTCTACAAACATTTATTCCATAACAAGTGATTAGTAGCTTTTTATCATTTTCTAAATACTCTTCATGTTAATCCCTTATCAGATATATAATTTGGAAATGGTTTCTCCCATTCTATGGGTTACCCATTTACTCTGTTAATATTGCCTTTTGATGCCAAAGGTCCACAAAATCCAAATTATTCTTTCCCTTGTGGGTCATGCTTTTGGTGCCAAATCTAGGAAATCATTGCCAAATTCACTGTAATACAGCTTTTGCCATGTATTTTCATCTAACAGTTATACAGCTAAGATGGACACTCACATATTTCGTTCATTTTAACTTCTGTACATGTTAGGTATGGGTACAACGTCATCCTGTTGCATGTGGATGTGCATTGCCCAACAGCATCATTCTACAGAAACATTAAGCTATCCCCCATTGAATAGTCACAGCAGACTTTTCAGTAATTGTTAGACTTTATGTAAATTATTAGACTTTATTAGACTTTCTGTGTTATCTTGTTGCATTGTCTATTTCTGCGTTATTACGCTAGTACCAAACAGTTTTTATTAGTATGGATTTGTAATAAGTTTTGAAATCAGGAAGTGTGAGTTCACCAACTTTGTTCTGGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCTCAGGCTCAAGTGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACGCGCCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGATGCGATTTCACCATGTTGGTCAGGCTAGTCTCCAACTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGCGGTGGGATTACAGATGTGAGCCACCACATCTGGCCATTGTTCTGGCTTTTGAAGACTGTTTTGTTCATTCAGAGACCCTTGAGATGTCATATATAAAAAAATAAAAAATGTTAAAAAATGGCTCCTAAGAAGGAATCAAGTGGTCAAACCTATCCCTAAAAGGCTAGCAGGGGACAAAAAGTGGTATCTCTCAATAAGAAAATACAAACCTAAGATGTTTTGAAAAGTGGTGTATCACCTTGGAAAGTTCGTCATAAGGTAAGAACAAACCAAGAAATCACACACTAAAGCAGAGAGAAGCTGAAGTTCCTCAAAGTGTTAGAGCTGCCCCTACAGTGGCAAAAATGATCCCTCTAGTTCATGATAAACTAAGGATAAGCATTAAGTGTGTGGCTAGAGGACACGTCACAGAACCACAGCCCTACTGATGGTAACATCATACTTGAAAAAACACTTAGCCAGGCCAAGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGATCAGCCTGACCAACATGGTGAAACCCAGTCTCTACTCAAAAGACAGCTGGGTGTGGTGGCGCGCACATGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGGGGTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAGCAACACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAGAAGGAAAGAAAGAAAAGAAAACAAAAAACACTTAGCCTCTGTAAGCATCACTGTGAGGGGGCTGAGGAGAGCAAGAGGAAGGAGTTTGAAGCCAGTAAGTTCTGGCTAGGCTAACTATGCAACACAGTGCAGCCCAAGAACTTGAAGACCACAGGAGAATTGGCATCGGCTGATGCCAGGGAAACAACAGCATTCCTAGAAGAGCTCATAAAACAGAAAAAAGACACTACCTTCCAGAGTAAATCTTCTATTGTCATGAATCAGGCATGTTCTAGAAGATGCCCAATGGTACCTTCATACATGAGTGCAGGTACTGGGGTTCAAGGCCTGGAAAGACCACCTTTTTCTGGTGCTGTCAGGCCATGCATTAGTTCATGAGAACAAGCGAGGCTTCGTCTACTGAGCAATCACCAGGTTCTTTAGGACAAAAGCAAAACTTGCTGGCCTGTGTCCTGGCAAGAACATAAGAAGGCTTTCTTCTAGCAATGCTTCACTCCTGATGTGATGGAATACCTCAAAGAGAAGGGACTGCCACTCAAGGTCTTCCTCAGAATTGACAACACTCCAGGCCATCTCTCCAATCTCTGTTTTGCCTAAAAGAACATGCAAGTGATATTTCTGCCTCCTAAAACTACATCACTGCTGCGTCACTAGATCAAGGCATCAAGTGCATTCAAGTGACTTACATCCTTGGGTGAATTCATGGAGTCTTGATGCTAACCTTGAATGTACCACAGTGGTTTTATTGAAGAGCTTCACAATTACAAATACAATTGTGCTTATTGGGAAGGCTACAGATGCCCTAAAGCCCAGGACAGCCAATACATGTTACAAGCCATCATGGGGTAAGGGAGTCAATGATTTCAAGGACTTCCCTACTATTAATGCAGTTATTAAGAATATGTGAAATGTTGCAAAAAAAGTTGGTGGGGAACGCTGTCTGAAATGACTGAGGATGACGTTAAGGAACACACCGAAAAGCAAAGAGAAACCCTTACCAGCTAGGAACTTCAAAGTCTGCTGAAATCCACTACAGATGATGATGAGCTAGAAAACTTAGAAGACACAGAGCCATTGATTTGGACACTTGAAAAGTTTGCCACAGTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTATAATGGAACAAAGCTTTCAATCTACCTGAGAAACAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAGCTAAGCATCTGCAAATAAGACGGAACATTCAATGGTTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTACAGTGGAACAAAGCTTTCAATCCACCTGAGAAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAACTAAGCATCTGCAAAGAAGATGGAACATTCAATGGTTACAGATCTTCAGCCCTCAAGCCAAACAGATCCTAACATTAGTATTACATAGCCTCCTCAAATGAGTCCACATCTATAATCACAAGTTGGTTCTTCCAACATAGATGATAGTCCTGATGGCCTGTCAAGATTCAAGTTAACCTGATGTCTCACTACTTACCCACAATGCCATACATCTAGTCATCTCAACACATCAAAACACTGGGCACCACAGAATCATCATCATTGTTATAATCACTATACTTGGGTTATCAAGAGAGAAGACCCAGGGTTTTGGTAAGTGTTAACACATTAAACAGAAGAAATAGGTGAGAGTTGAAACAAAGAAACTTTAATGTTCTGGCTGACTACACTATGTTGATAGGCTCACAATTACTGCATCTATACTGAAAATACATAGACTCTTTTCCTTATCATGATTCCCTAAACAATACAATAGAACAACTATTTGCATAGCTTTTATAATGCATGAGGTATTTTAAGTAATCTAGACATAATTGAGACTATACAAGAGGATGTGGGTAAGTTACATACAAACATGTCATTTTATAAAAGGGACTGGACATGGCTCACGGAGTGCTGGAACCAATACCCAGCAGGTATCAAGGGATGACTGTACTGGAAAGAAACTGAAACTACTTAAGGCTTTACCAAGTGCTTACATTCACAGGGTCTATCTCCAATGTGTTTCGTACAAGTATCTGAAATGAAATAAAATTAATAAATGCTTTCCCACATTCCATACATTTAGAGAGAATGCTAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATATGGGTTCTCTCCAGTGTGAGTTTTTTTCCAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATACGGGTTCTCTCCAGTATGAGTTTTTTCATGTCCTTGAAGAAAACGGGAATGAGTGAAGGCTTTACCACATTGTGGACATTCATAGGATTTCTCTCTCATGTGAATTCTTTCATGTCGTAGAAAGCAAGTGAGCCAAGAGAATGCTTTCCCACATTCCTTACATTCATACGGCTTCTCTCCAGAGTGAATTCTTTCATGTACCTTTAAGTTATCATAATGACCGAAGGCTTTCCTACATGTTTTACACTCATAAGGTTTCTCTCCTGTGTGAGTCCTTTTATGTCGAGAAAGGTATCTGAAACGACTGAATGCTTTCCCACATTCCTTACACTCATATGGCTTCTCTCCAGTGTGAGTTGTTTTGTGATTTTGAAAGGAACAGAAATCAATACAGGCTTTCCCAAGTTTGCATTTATAGGGTTTCTCTCCAGTATGAGTTGTTTCATGCCTTCGAAGGGAACTGGAAATACGGTAGGCTTTGCCACATTGTTTACATTTATAGGGTTTCTCTGCAGTGTGAGTCCTTTCATGTCTTTGAAATACACTGGGATAAACAAAGGCTTTCCCACATACCTTGCATTTATGAGGTCCATCTCCAGTGTGCATTATCATATGACTTCGAAAGCTTGAGCGATGAGATAATGCTTTCCCACACTGCTTGCATTCATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGACTTTGCAGTGAACTAGGACAATCAAAGCCTTTCCCACATATCTTACATTTATGAGGTCCATTTCCAGTGTGCCTTATCATGTGTCTTTGAAAGCTTCCCAGATGATGAAACGCTTTCCCACATTGCTGACATGCATAGGGTTTCTCTGCACTGTGAGTGGTTTCATGTCTTTGAAGGGAACCGGAAACACTGAAGGCTTTCCCACATTGTTTACATGTATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGTATTAGACAAGAACTGGAATCAGGGAAGGCTTTAGAACACTGCTTACATTTATATGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGGAAAGGCTTTAGAACACTGTTTACATTCATACGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGAAAAGGCTTTAGAACACTGCTTACATTCATATGGTTTCTCTCCAGTGTGCGTTCTTTCATGCATATGTAATAAACTGGGCCAAAAAAACGCTTTCCCACACAACTTACATTTATAAGGTCCATCTCCACGCTGCACTGCCATGTGTCTTTGAAGGTTTCCCAAAGAACTGAAGGACTTCCCACATTCTTTACAATCATATGGTTTCTTTCCAGTGTGAAGCCTCTCATGTGTTTGAAATGAGTTGTGGTAACTGAAGGCTTTCCCACGTTGTTTATGCGTATCTGGCTTCTCTCCACATTCATGATACTCATGTGGTTTGTGCCCAGCACCAACTCTGATGTAACAATTAAGGGATGAATGACCCATGACTTTTTCTCCTCTCATACTGCTTTCACAAGGACCTACTCCAGGAAGAGTGTTCTTGGTCACAATACTATCTTGAATCTGGCTAGATGTTTCTCCACATTGAGTTCCATCTTTACTTTCAACAAATCTCTCTAACATACGACATCTGTAAAAAATGGGAAATATATCACTAAAAGTCGGTCTATAAATAATTGTATAGGTATTAATAAGTATTGGATGTACATTTTTAACACTATCATGCGAAGTGCAGGCTTCGTGTCCTGCTTGAATGTGAATGGATGGAATGCTGTGCAAGGTAACTCGACCCAGGTGTTCTCAAGACAATCACATTCATATGTGGATTCATAATATTGTTGTCATGGGAACTAATTTATGAACACTGAACAGCTATGGAACATTTAAGTATATATTTTGGAGAAAATTTTCTAAGAATAAATAAATTTAAGCTAGCCTTGTTCATTTTCTTTGCTTCTTTTTAAATTTTCATGTCATTCTCAGAACGGCTCCAGGGACATATCTTTCTCTTGTGAGTGTAAATTACCTTAGATTTTTCCTGGGATATCTATATTGATCTTCAATGTTCTGGTCTTTCCATTTCATTACTAAAAGGTATACACAGAAAAATCATTACAAATTTTTACAAAATTATAGACAAACAGTAACATTTTGATGTACACTGCAATCGTTCAAAATGCATTCACTGAAGTACACCTGACTCTTGAAAAACAGAGGTTTGAACTGCACAAGTCCATTTGTATATACATATATATATGAATGTTCTTCAGTCTCTGCTACCCAAGACACTAAGACCAGCCCCTCCTCTTACTCAGCCTACTCAATGTGAAGACAATGAGGATGAAAACCTTTCCGAGGATGCACTTCCACTTAATGAACAGTAAATATAGTTTCTCTTCCTTATGATTATCTTTTTAACACTTTCTGTTTCTAGCTTACTTTACTGTGAGAATATACGATGTAATAATACGACATAAAATATATGTATTAATCACTGCTTATGTGACTGATAATGCTGCCCATCAATAGTAGGCTAAGATGTGGACAAAAAGTTATATGAGGATGTACAACTGCTACAGGAGCTGGCACCCCTAAACCCTGTTTTTTTTTTTCCAGGGCCAACCATATCCCCT	TTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGCCTGATCCATCCCACATGTACAGAGGAGGAAGGGTGAAAATCACAGTACTGAGAATCTATACTCACTTCATAAATTTCACATGATGCTGTGGTTTCCAACCATTTTATTCAATGACATGGTAAACCCACTCTTATTCTCTGTCTACACTCACTTTCTCCTACACAGTAACTCTGAAGCTACAGTTAAACATGTTTGGTAAATTAACAGTGGGATAGAAACATGCCACTTGTTGGCGAACTGAGTGAGTGAATCACATAGCCTGGATCACCCCTAATGTTGATTTCCACAGTGGGTCTGCAGTCCTTGGCACGATAAAGTCCTACTACTTATTGTGCAAAAGGGAGTTACCATTAGCAGTGCTGAGACTGTGTGTCCTTACAAATGCTTTTTCACAAAGTTGGGCTTTTCATGGTATCTAGACAGTGTATTTAGGGGAGGGCCCCAGGAGCGTAACTAATAATAGGGGTGGAGTGTGCCTAAATTGTTTACGCAAAAAAAATACAGTATTTCCTTAACCCCATCTTCCTTCTGAGAGTTTGGAATTTTGTTACATACTCAGCACAGGGAGTGCACCTGATCAGCCACTGCTAGGTTTGAATGGTTGTCCCCTCCAAAATGCACACTGAATGTTAATCTCCAAAGTGGCAGTAAAAAAAAAAAAGTGAGGTTTAAGAGGTGATGTAGTCCTAAGGGTTTGGACCTCATGAATAGATTAATCCGTAACGGGTGAATGAATAAATGAGCTATCTCATGTCCTTCTGAGAAGAGTAAGAGATCTGAGCTAGACACTCAGCTCCCTCACCATGTGATACTCTATGCCGCCTAGGGACTCTGCAGAGTCCCCACCAGCAAGAAGGTTCTCACCAGATGCCCAGCCTTAACCTTGGACTTCCCAGCCTCCAGAAATGTAAAAATTAAATACTGTTTCTTATAAATTACCGAGGTTCAGTAATTCTGTTATGAATAACAAGAAACAGGCTAAGACAGCTACAAAGAAACACTCTGGGCATTGGGTCTATAATGAACTTTCTGGGTAGATAACATTTCACGTTTTGTTGCAACTTGTTATTTGGGGGATTTAGCCCATCCTATGTGATTATACTTACAGAGAATATTTGGAAGCTGGCAACTAGTTTCCTTTAGATCAAATGTACTGAAGTATGACAACAGACTGAGAAAAGATATTACACCACCTCAAAGGAAAAATTTTAAACATTTTGAGTAACGCCAAAGGGGAAAGAAAGAAGGGGAAAGACTGCACATATTCTTAGAAAGAACTCAGTGTCATCTCTCATGAATATTTATAATACTTACTAAGAAACTAAAACAAATCTTTTAGTAGTCAACAAAAATTACATTACCAAATCTAATAGAACTCACAGTATCTAAAAAATGCTGAAAGCCTTCTCACCAAGAAAGTGCAGCATTCCAAAAACAAATAAAGGATTTTATTTGGCACCCCGTACTATTAACAGAGAGATAAATATATATATAAAGAAAAATGAAAACTGGTAGAAAAGTCTTGTGGAGCTTTTATTTGTCCTTGGCCCAATCCCTCCCCCTATCAATACCAGTCTTGAACACAGCAGCCTGAGTTCCCGGTATAGAACCCTGGACACTAATTCTAGAGACAGCATATCAGATCTTATTTGCAAATTATTGCCTTGCATTTTCCAATCTGTATAAGGACTATCCCGAGGTCTGAAACAAAGCTGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGCCACACAACCTTGGCTCACTACAACCTGACTCCCGGGTTCAAGTTATTCCACCCAGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCATGCTCCACCACATCCGGCCAACTTTTGTATTTTTACTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCGCCTGCCTTAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACAGTGCCCAGCCAAGGCCCTCTCTTCTACTTTATCTACAATACAACACGATCAGGGTCCAATTTGGCAGGAACTGCATGAAAATGTTGCAAAATACACAAAAAGCCTGTAGCCAACTGGAAGAACAGACTATGATTAAGACATACAGTAGACCAACTAAGTCATGGAGAAAAAGAGCTGAAGAGAAAATGTCCTCCAGATATCAGGGTACTCAAAAGCACCCAGGTATCCTGGGGAATTGAGAAAGCCCCATGCATGCACAGTAAAGAACACATTTTCACAAAAGACACCGGAGAAGAAACCCTCATTTTCACTTCTGGCTGATCTGTAGCTTTAAGTAAGCAGAACATAAAGCATAAGTAGAGTATTAAACAGCCTGGCTAAGTGTTCAAGGGATGCCCCAGGCACAGAGCCATCCACAAAGACTGGAAGAGGTCAGGCTTTTGTATGCTTTATCTTTTTTACTAGCTTCTAGCATTCAGGAAATCTCTGCCAGAACACTGGATGAACACACACTAAAGAACAGAGATGTCAGTTTCTACAACAAATAAGGAATACAGTCTGTGCAAACATACTTTGAAAATGTTATTAAACAAATGAACAATTACAGTCTTCAACACACATAAACAGAAAACAGTGAGGAAAGAAGAAGAATCCAATTTTCAGAATTACCCCATTATAACATTGAGATGTCTACTTTTCAACACAAAATTATGAAGAATACAGAAAAACATGAAAATATGGTTCATCAATTGGAAAAAATATAATTGAGATAAGCCATCTCTGAGAAACCTCAGACACTGCACTCACTGAATAAAAACGTTAAAACAACTATCTTAAATATGTTCAATGAAGTAAAGGCAATGATGAACAAATAACTAAAAGAAAACCAGAATACAGATATAGAGATAAAATAATATCTATTAAAAAGTAGAAATTAACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGTGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCCTATCTCTACTAAACATACAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGACGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCAACAAGAGCGAACCTCTGTCTCAAAAAAAAAGGGGTAGAAATTTAGCCATATAGAATTTATGCAGCTGCAGGGTACAACTAAAATGAAGACATCATCACAAGTGTTCAAAAGATGTGAGCAGCCAAAAAAAAAAAATCAGTTAAAATGATGATAAACCAATTGAAATTAATCTAATGGGGAAAAAAAAAGGAATGAAATTGAGAGAATGTGTTACTGGTGTACTTGTCTTGCCAATAATGTTAAAAGAAGTTCATCAGAGAGAAGAAAAATGATACAGGTTAGAAACTCAGATCATACACACACACACACAAACACACAAATATATACATATGCATATATATGAAGAGCATTAGAAAATAATTCAATGAAGGCACAAAAATTATTTCCTTTTCTTATTCCTATTGGATATCATAAAGGTTTGTTCAAAAAATAATATCAACAATGTATTGGGTGGTTATAGTTTATAATAGGGCAAATGGATGACGGTGATGTTAAATTGGGTGGGAGGGAGGAATGCTGAACACTGGGTTATATAAGCATTACCCCAAAAGCCAGTACAGTGTTACTTAAAACTGAAGGTCCATTTGTTGTGAATGGTTTACTCCAAATGCTAGGGAAATCAATAATAAAATGTTAAGAAACAACAGCCTGTCACAGTGGCTCACCCCTGTAATGCCAACACTTTGAGATGCAAGACAGGAGGACTGCTTAAGATCAAGACTTTGAGTCCACACTCGGCAACACAATGAGACTCTGTCTCTAGGAAACGTGTAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCCTGCACCTGTAGTCCCAGCTACTCAGGAAAGCAAGTAGGGAGGATCTCCTGAGCCCAGGAGTTGGAGGTTATAGTTAACTATGATTGCTCCACTGCACTCTAGCCTAGGTGATAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAAGAAACAAGTAGACTTACCATACTATTAGAAGAAAATACAATCATATAGACTCCTCAGTTAAAATAAAAGGAGACAGAAAAAGGAAGTTGAAAAAAACCGACAAGTATAACAAATGTAAAACAATTATATATGTACATATGAATCCAGGTATATCAATAACCACTTTAAATGTGTATTATATGAATATACCAATAAAAGAAGACAAGGACTGACACAGTAGAAAAAAAACAAGATCCACCAATGTGTGCAAGAAAACTATTTTTTTATTCTCTCAAGAAAACTATTTTAAGTAGAAAGACACAGGTACATTAAATATAAAGGTATGAAAAAATATACTCCATTCTAGCCCTAATCAAAAGCCATATGGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAAGCTGGTGGATTGCCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGCGAAACTGTCTCCACTAAAAATACGAAAGAAAAAAAAAATTAGCCAGGCATGGCGGCACGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGACAACAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGGTCTTAGCTGGAGGTGGGGGCATTGGCCTCAGGCCTCTCTGCCATAGTCAAAGCTACTCTCTTACCCTTCTATGCTTTACATGGATATTTAAAAACAAAATACTCATGTTTGATGAATCCAGGAAAATCACTCAAATTCAGTGTTTATGTCTATGGGTGGGAAGGAAATTGTAAGGCACTGATATTTTATACCTCAACAGGAAAAGCCCAAATACCTATCCCTTCCAGACAATGAATGTCATTTAATTACTATTTCCATGATAGTAAGTGATACAGTTAAAAATAATTATATTTTACTTCTTTAGCTGTTGGAAAGTCCTGTCCCACAGAATTTAGCATTCATCTGTCAAACCCATATAACAGGAACAGAACAGATTTCTCCATTGTCCCAAAATCTCCACCCTTTTAAAAAGGAGAACTGAACTTTTGTTAAATCCTTTTAATTCAATGTACCTACTACACTTTCTTGTAAAAATGTATTCCTTTTTTGCAGCCATAATGGAAGAGGGTTTTTTCCTTGGTAGTAGTTATACTACTAAGTCCTGAAATTCCATCTGAAATCATCCAAAAAACAAACACACCTGAGAAACATACTACACAAGCTCTGGGGCAAAAAAAATAAATAAAGGTTTTTAAAAAATGGAATAGAAGATTACATATACCATTTATATTCTGAAATCCAACTCTTTCTAGAATTACTTATACAATTTATTTTCTGAAGTCCAACTCTTTCCAACTTTGGGTATACTTTGTCTTCAAAGTATACAATAACAATCTCTAATCATAGGATGTATTTTAAGGTTAATCAAAAATTTAGGCTGAAAAGAGTAAACATATCTTTTCAAGCTAACAAACTCAGGAATCAGCAGTGCTGACTGGAACACAGAAAAGTCTAATGCAACAATCAGGGTGGGTCATCCTATCACCTGGGACATCCCTTAACCCTATTCTGGTCATCACCCTCCCAGGAGACACTGCCTTGTGTGCTTTTCAGGATCTTGCACTACCTCAACGGGCAGGTTCTCCAGTCCTTAGATATAACTTTCTACCTTTTAAGTCTGAGAGAGTCCAGAAGGCAAAAATCATTTCTGTTTTTTTTTCCTATGGAATATGACCATGAAATTGGCTGTTCAGTCATGTGTCTCCAAGGAATGGAAACTAGGGTTGGGAAGAAAAGGTGAGTGTCCCAGGAGTTAGCTTTTTACAGGAATTATATACCAGAAGATTCCTCCCATCCCAGTGGATCCAGTTGCTCCCCAGGGGGCCACACCCCCCATCTCAGGCTGTCCCCTGGGAGGAGTGACCCAGGGGATGATATTCACTAGACCCTCCAAGAGACTTGGCAGCTGTGGACACCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCGGCCTCTGTTGCCTAGGCTGGGATGCAGAGGCACGATCATAGCTCACTGCAACTTCAAACTCCTGGGCTCCAGCCATCATCCCACCTCAGCCTCAGGAGTAGCTGCGACTACAGGTGCCAGCTACCAAGCCCAGCTAATTTTATTATTATCATTTATACTAGAGACAAGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTACTAAGATTAAGCAATACCTCTGCCTTAGCCTCCCAAGGTGCTGGAATTACAGGAATGACCCACCGTGTTCAGGAACCCAAAATAATTCTTTCAAGAAAAAGCCATACATTGCTAGCTGAAAACAAGATGACAAACTAGTGAAATATCGCCTGGGGGCCAAACAGTTCATACCGTTGCTGTGAATTAAGGACAGAAGGTTAGCCTGGGGAAGTCTCTGGAAACCAAGAGATTTGCTGCCAGCCCTAGGAGGAGTCAGGATGAGAGAACACAGTGGTGGATTTGAGACCCTGCTAACCACATCTTTGGAAGACTCAGAGGGGAAACGGTCGCCCTTGGAAAGAAAGAAGGGACTGAGGACCACGGAGACCACAGCTCCTCCCACACACAAACCCCACACACGAGTCTGGATTCCACCTGGTGACTCGTCGTCACCGTGCAGCCTCCTCACCGGGTTCACAGGAACTGCGAGCCAGGCTGGAGGCGAGATTGCAGTTAGATATTAACCAGGTGCCCTCAGCCCCGCTGCCTCAAGGGGCCGCCTCCCTGAGAGTCAGGTCACAGCAGACGCTGACCGCCGGCTTCCCCATTGTGCCTGGGGATAAGATCTCTGAGAACTGCTCAAGAGTCGCCGGAGTTCTCAGATCCTGAATCCCAGCAAAGGCTGGCGCCAATCAGGTTGAAGTCCCAACGAGGGAGCCCATTCAGCAGAATGCGGTTTCTTCACCTCCTGTCCCAGGATTCACCCCTCACTTCCCCACCAACCAACGACCCTACACCCAGCCGCCCCCGTCCAGACCCCAAATCCCTCAGGGAGGCGGATCTGGGGTGTCCTCCCCTCTCTGGCTATTAAACTGTTTCTGCTGCAGCCCTCAGCGTCTCGGTGCAGTGAGTCGGGCCGCGAACCTGTGTTGCTTACAGCCGCACAATCTCGGGAGACGCGAGGCTGCGGGCGCGGAGCTGCCCAGAGAGGGCGCCGGGGCCGCAGTCGCCGCGCAGGAACGGGACAGGACGCCCGGGGTCCCGGCTGCATGCCCAGCCCCACCCTGCGGCCGAGGGCCGACCTACGCCAGGGGAACCCGGGTCCGTAGATCCCGGAGTAGCCCTTGGGGAGGCCCGGGTCCAGCCACAGCCGATTACTGCAGGTTCCACCCAGCCCCTCCCCCGCCTCGGGACGCCGGCCCAGCACACGCACCATTTCCCGACTTCCGCGGTGTCCCAGGTCCTCCGGACGGCTCCCGCTGCCAATGCGGGTTCCCGCGGGACACAGGCTGCCACGGAACTTCCAGGTCGTCTCTTAGCTACAGAGCCGAGCACCGAGCGCCCAGCGCAGGTGGGTGGAGAAGACGCCGCGGGCTTTTTCAACCACACACTCCTCTGGGAAGCGCGCCTGATTGACAGTTCCCACGAACCCGCCCCACGGCCCTTACTGGATACGGCGTCAGGTGCCGCCCCTCGTGGACTGATTGACAGAAGAAGCGATCTTGCACAGCTGAGTGGAGCCAGATGAGCAAGTTCCTGACACAGCCCTTGGCAGGGCGGGCTTCCTCCCTGCTCTTTGATCTGAATCCTCCCGAGGGATATTTGCACTTAAGCGGAATTTCCTGCCTGTACTCAATAGGACCTCCTGCTTCTTCCTCCTGTACACTGACTGACAAAACAATTATACTTTTTTTTTTTTTTTTTTTTTTTTTTCCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGTCTTGCTCCGTGGCTCAGGCTAGAGTGCAATGGTGCGAGGCTCACTGCGACCTCCGCCTCCTAGGTGGGTTCAAACAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACACCCGGCTAATTTTTGTATGTTTTAGTAGAGGCCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTTCTGGGATTAGAGACGTGAGCCATCGCGCCTGGCTCCAATTATACTCTTTTTCAATGAAATTTTTCAAAATATTTCAATGTACAATTAAATTATTTTTTACTATAGTCACTCTGTTGTGCTAGCAAATACTAGGTCTTATTCATTCTTTGTAACTATTTTTTATACCTATTAACCATCCCCACTTCCCCCATAACTACTCCTCGCTACTACTTTTCCCAGCCTGTGGTAACCATCCTTCTACACGTTTTTGGTTGTTTGAGATGGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGGGCCATCATGGCTCACTGCAACCTCTACCTCCCAAGCTCAAGCAATCCTCCCACCTCAGCCTCTCAAGTAGCTTCAGATTGTTCACTGTTGGCATATAAAAATGTTACTGATTTTTGTATGTTAATATTGTATCCTGCAACTTTACTGAATTTATTTCTCAGTTCTAATACTTTTTTGGTGGAGTCTTTAGGTATTTCCAGATATAAGATCATATTATATGCAAACCAGGATAATTTGACTTCTTCCTTTCCTTCCCAATATAGATGCCCTTTATTTCTTTTTTTTTTTTTTTTTGGACTTATTGCTCTAGCTGGGACTTCGAGTACTGTGCTGAACAACAGTGGTAAAAGTGGGCATTCTTATTGTGTTCCAGATCTTACAGGAAAGGCTTTCAGTTTTTCCTCATTCATTATCATGCTAGCTGTGGGTCTGCCATATATGGCTTTTATTATGTTAAGGTAGCTGCTTCTATACCCAGTTTTTTTTTAGGGTTTTTATCATGAAGGGATGTTAAATATTATCAAAAGCTTTTTCAGTGCACATTGAAATGATTATATGGTGTTTGCCCTTTATTCTGTTGAAATGATACATCACATTGATTGATTTGCATATATTGAACCATCCTTGCATCCCAGGGATAAAGCCCACTTGGTCATGATGAATGATCTTTTTGGTGTATTGTTAAATTCAGTTTGCTAGTATTGAGTTGAGGATTTTTGCATCAATATTCATCAGTGACACTGGCCTATAGTTTTCTTTTTCTGACATGTCTTTGTCTGGTTTTGGTGTCAAAGTAATATTGGCTTTGTAAAATAAGTTTGGAAGTATTGCCTTCTCCTCTGTTTTGGAATAGTTTGAGTAGGATTGGTATTAGTTCTTTTTTAAATGTTAGTAGAATTCAGCAGTGAAGCCACTGGGTTCTGGGGTTTTCTTTGCTAGCAGACTTTTTATTATGGCTTTGATCTCATTATTTGTTATTGGTCTGTTCAGGTTTTTTATTTCTTCATGGTTCAATGTTGCTATGTTCTATCTGCCTAGGAATTTATCAATTTCTTCTAGGTTTTCCAATTTATTGGCATATAGTTGTTCTTAGTTGCATTAATGATCCTTTGAATTTCTGCAGTATCAACTGTAATGTCTCCTTTTTCATCTCTAATTTTATTTATTTGGGCCTTTCTGTTTTTTTCTTAGTCTACCTCAAGGTTTGTCAGTTTTGTTTGTCTTTTCAAAAAACCAACTTTTTGTTTCATTGTTCTTTTCTATTGTTTCTTCATTTCAAATTCATTTATTTCTACTCTGATTTTTATTATTTCTTTTCTACTAATTTTGGGTTTGGTTTGCTCTTGCTTTTCTAATTCTTTAAAATGCATTCTTAGGTTGTTTATTTGAAGGTTTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTGATGTGAGTTTTACTTCACTCTTGCAGCCTAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACCCACCACCATGTCTGGTTAATTTTTTGTATTTTTAGTAGACAGGGTTCCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAAGCTCAGGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCGCACCCAGCCTGCAGGTCTTCTTCTTTTTTGATGTAGGTGCTTATATCTATAAACTTCCCTCTTAGTACTGCTTTTGCTGTATTCCATAGGTTTTGGTATGTTGCATTTTCATTATCATTTGTTTCAAGCAACTTTACAATTTCCTTCTTAATTTCTCCACTGACCAATTGGTCATTCAGAAGCAGATTATTTAATTTCCATATGTTTGTATGGTTTCCAGAATTCCTCTTGTCATTGATTTCTAGTTTATTCCATGTATTCTATGACACAATTTAAATTATTTCAATTTTTTTGGAGAGTTTTAAGACATGCTTTTTGAACTAACATATGGTCTATCCTTGAGAATGATGCATGTGCTCGGGAAAAATATGTGTATTCTGTAGCTGTTGGATAAAATGTTCTGTAAATATCTATTAGATCCATTTGATCTATAGTGTAGATTAAATCCCATTTAATCTTTCTTTTGTCTGATTTTTCAGTATATATTGAGATAATCTTTGTCGATTTACTGTCTGGAAGATCTGTCCTGTGCTGAAAACGGGGTGTTAAAATCTCCAGCTATTATTGTATTGGTCTCTCTCTCTTTTATTTTTATTTTTATTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCACGCTGGAGCGCAATGTTGCAATCTTGGCTTACTGTAGCCTCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCTCAGTGCCAGTCTTAAAGACAGCAGCCCGAGATCCCAGTATAAAATCCTACTCACTCAATTATCACCTTTGTATTTTCGAATTGGTATGGGGACTTTCCAAAGGTCTGAAACAAGGCTCTCTGTTCTATATCATCTACAATAACTCAGTCCCTGTCAAATTTGGCAGGAATTGCCTAAAAATGTTGTAAAATACATCAAAAGCCTGCAACCACCTGGTAAAACGGATTATGATTATGACATACCATCTCTGATGGTTAATACTGAGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGCCTCTGTGAGGGTGCTGCCAAAAGAGATTAACATTTGAGTCCCTGGGCTGGGGAAGACAGATCCACCATTAATCTGGTGGGCACAATCTAATCAGCTGCCAGCGAATATAAAGCAGGCAGAAAAACATGAAAAGGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATCAGACTCCAAGTTCTTCAGTTTTGGGGCTTGGACTGGCTCTCCTTGCTCCTCAGTTTGCAGACAGCCTATTGTGGGACCTTGTGATTGTCTAAGTTAATATTTAATAAACTCCCATTTATATATATATATATATCCTATTAGTTCTGTCCCTCCAGAGAACCCTGACTAATACACCATCTAAATCCTGGGGGAAAAAAGTTGGAGAGAAAATTTCCTCTAGTAAACTAGGGTACTCAAAAGCACTCAGGTATACTGGGGAATTGAGAAAGCCCCATGCATGCACAGGAAAGAACACATTTTCACAAAACACATGATAAAACCCTAATTTTCAGCTCTGGCTGATCCCTAGGTTTAATTAAACAGAAAATAAATGCTAAAGTAGGATTTTAAACAGCCTGACTGTGTTTTCAAGGAATGCCCCAGTACAGAGCCATCCACAAAGACTGAAAGAGGTAAGGTTTTTGTTTGTTTCATCTTCTTCTTTACTTTTAGCTTCTAACATTCCAGAAATCTGTCAGAACACTGAATGAACACAGAGGAATAGACATCAGTGTCTACAATGAATAGGGACTACAGTCTCTGCAAACACAGTTTGAAAATGTTACTAAACAAATTACAGCCTTCAACAAACATAAATAGCAAAGAGTAAGCATAATTTTGTTTTGATACAAACAAAATTATGAAGAATACAGAGAAACATGAAAATGTGGCTCATTGATGGAAAAAGTTTAATTGACATAGTTCATCTCTGAGAAACCTGACACTGGACTTACTGAATTAAAACTTTAGAGCCGAGCGCGATGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACAAGGTCAAGCGATTGAGATCATCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTATACCCAGCTACTCGGGAGGCTGAGGCAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATTACGCCACTGCACTAATGTCTGGTGACAGAGTTGGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGGACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAACCAAAAAACTTTAAAATAACCGTCTCAAATATGTTCAACAAGGTAAAAGCAATGATGAATAAAGAACTAAAAGAAAACCAGAAAACAGATGTAGGGATAAAATAATATTAATTAAAAAGTAGAGGCCTGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAAGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTTCTTCTCAAAAAAAATAAAATTAAATTAAAAAAGTAGATATTGAGCCATATAGCATTTATGCAGGTGCAAGATACGACAACTAAAATGAAAACATCACTACAGGTGTTCAACAGTTGTGACTAACTAAAGAAAAACATCTAAAATGAAGACAAAACAACTAAAATTACCCAGTCTGAGAGAGGAAAAAAGGAACAAGGATGAGAGAATGTGTGACTGGTATACCTGCCTTGCCAGTAATGTCAAAAGAAGTTCATCAGAGTGAAGAAAAAGGATACAAGTTAGAAATTTGGGCTGGCTCAGTGGCTCATGCCTATAATTCCGGCACTTTGGAAGACCCAAATGGTAGGATTGCTGGAGCCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAAACTCCATCTCTATAAAAAATAAAAAATTAGCCAGGCATGGTGGTGCACATCTGTGATACAGGCTACTTGGAAGGCTAAGACAGGAGGTTAACTTCAGCCCAGGAGATGGAGGCTGCAGTTAGCTATATTCCTGTCACTGCACTCCAGCCTGAGTAACAAAGCAAGACCCTATCTAAAAAAAAAAAGAGAGAGAGAGAGAAAAAAAAAGAACTAGAACAAATTCTGGTCACACACACACAAACATATATACACAAATACATACAAACATACATATGCAAACTACATAAAATATATGAAAAGAATTAAATGAAGGCACAAGAAAACTCTTTCCTTTTCTAGTTCCTATCTGATGTAATAGATGTTTGTTCAAACTAATAATATCAACAATGTATTGGGTAGTTTAGCTTATAATAGGGCCAATGAATGACAGTGATGTTATCTGGGATACGAGGGAGGAATTTGGAACACTCTGTTATACAGGCACTATACCAGAAGCCAGTATGATGCTTTGTAAAACTAAAGGTCCATTCATTGTGAATGGAATACTCAAACTCTAGGGAATTTACTGGTAAAATTTAAGAAACAATAGCTAGTTGGGTAGCTCATGTGTGTAATCCCAGGACCTTTAGGAGGCCAAGGTGGGAGGATTACTTGAGCCCAGAAGTTCAAGACCAGCATCAGCAACATAGTGAAACCCTGTCTCTATAAAAATTTTAAAAATATCTTGGGCATGGTGGCACAAACTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGTGGGATCTTGAGCCCAGGAGTTTGAGATCACAGTCAGCTATGATTGTGCCACTGCACTCCAGCATGTATGAGAGACCCTGTCTCAAAAACAAAAAAGATTCTGTCTCAAAAGAAAAGAAAAGAAAAGAAAATGAAACAAGTAGTATAGTATAATAAGTCTACTTACTCTACTTCCATTTTCATAAAATTTCATTTCACATAGTAATAGATTTACTATACTAATAGAAGAAAGAAAGAAAATGGAATCATATTAAATGCTCAGTTGGAAGGAAAGGAGGCAGAAAAAAAGAAGTTGAAAAAACAGACAAACATAACACAATTACATATGTACGTAGTAATCCAACTATATCAATTGCCATTTAAACATGTATTATCTATAGATACCAATATAAAACAAAGATTGATAGAGTAGAAGGAAAAAACAAGACCCATGAATGTATAAAGAAAACTATTTTAAATAGAAAGACACAGATACATTAAATACAATGGTATAAAGAAATATATGCCATTTTAGCCCTAATCAAAAGGAATATGGAACAGGCTACATTAGACTCAGATAAATCAGGTTGTAGATCAAGGAAAATTACAAGAGATAGAGATATTTCATAATGATAAAGTGCTCAATCCTAGAGACATAATAATCCTTGATATGTATGTCCAGAAAATAGAGCATCAAAATGCATAAGGTGGCTGGGTGTGGTGGCTCACGCCTGTCATCCCAGCACTATGGAAGGCCGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGTGTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGCACTCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAATTGTGAAACTCCACCTCAAGAAAAAAAAAAAATGCATAAGGCAGCAGTCCCCAACCTTTTTGGCGCCAGGGACTGGTTTTGTGGAAGACAATTTTCCCATGGAATTGCGCTGTAGGGGAATGGTTTCTGATGAAACTGTTCCACCTCACATCATCAGGCATTAGATTCTCATAAGGAACGCACAACCTAGATCCCCTTGCATGTGCAGTTCACAACAGGGTTCGCGCTCCTATGAGAATCTAATACCGCCACTGGTTTGACAGCATGTGCAGGCGGTAATGCTTACTGCCTGCCGCTCATCTCCTGCTGTGCCACCCGGTTCCTAACCAGCTACAGACCAGTACTGGTCCACAGCCTGGAGGCTGGCAACTCCTGGCATACGGCATAAATTTATAAAACTGCAAGGCAAATACACAAATCCATAATTATAGTTGAAGGAGAACAATTCCCCTCTATCAATAATTGATCAATTGAGTAGAAAAATCACTAAGGACATAGCTGAACTCAACAGCATCATTAATCAACTGGATTTAATTCATATGTATTTATAGAATACTTCACTCAACACCAGAGTACACATTCTTCTCCAAACTACATAACATATTCACCAGGATGGACTATATTCTGAGCCATAAAACCTACCTTAACAAATTTAAAATAGATATTCTGTAAAGTATGCAATCTAACCATATTAGAATTAATCTAGAAACCAGTAACAGAAACACAGTTGAAAATCTTCCAGAAAGTCGACATTTGAACAACAAACATCCAAAATACATGAAAGACAAACCGAACTGTCAAGAGAAATTTAAATATTCTGAAGTTGATGAGAAAACTATATCTTAGGGCCAGGCACAGTGGCTCACGCCCATAATCCCAGCACTTTAGAAGGCCAAGGTGGGTGAATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGTGCACACCTGTAGTCCTAGATACTCGGGAAGCTGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAAGTTGCAGTGAGCTGAAATCATGCTACTGCACTCCACCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAACAAACAAACAAATATATATATATACATACATACATACATACATACATATACACATACATATATATACATATGTGTCTGTGTATATATCAATGTCTGTGTGCATATATATATATATATATATATATATATATATATATATATATATCTTAGCCAAAAACACTTTTCATAGAGATGAGATCTATATTCCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTACCACCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAACCATAATGCCCAGCCTTAGCGAAATGTTTGAAATGTAGCAAAGGCAGTGTTTACAGGGAAATTCAAAGAATTGAATGCAAACTCTGGAAAATAAAGATCTAAAATCAATGCTCCATTTTGAGAAACTAAAGTTCCATTTTGAGAAACTAAAGAAAGAACTCCAAGATAAATCACTCAGAGGAAAATTACAATGAGAATATATTAATGAAATTGCAAACAAGATATCAATTAAAAACATCAATAAAATCAAGAGCTAGTTCTTTAAAAAGACCAAGAACATTGCTAAACCCACAGCCAAGCCAACTCAGAAAAAAAAAGGGGGCCATCACTACTATTCCTATGCACATTAAAGTGACCATAAGGGACTATTCAGAGCAATTGCATGTCTACAGATTTGTTTAATTACATGAATGGGCCAATTCCCTGAAAGACAAAATCTACCAAAACTCACAAAATTAGACCCATGTAATACGAACGGGCATAATCTATTTAAAAATTGGAATCACTAAATAACAAATGTCCCAAGAAAAAGGAACCAGACCAGGATGGTTTCACTGGTGAACTCTGGCAAACACTTATGGAAGAAATGACACCAATTTTCTACAATCTCTTCTGAAAAAGAGAAGCAGAGAGAAATCATGTTATAAGGCCAACATTGCCCTTGCACTGCAACTAGACAGATGATACAGACATATCTCCGCCATGTAAGAATATAAAAGGAAGACTGCTATCTGCAAACCAAGAAGCAGGCCCTTACTAGAGACTTCATCTGCTTGAACTTGGAAACCCAGCCTCTACATCTTTGAGAAATGTTTGTTGTTTATGGTATGCAGCCTGTGGTAATCTGTTATAATAGCTTGAGGTGACCACACATCAAGGCTTTGAAGTCTATAGTAATGAGGAGAGTATGGTATTAACCACAATGACTAAAAGAGAAACCAATGGAAAATAGCCAATTCTAAAACAAGATCACCAATTTAAGACACAAGAACCTATGACATGCAGGTATTAGCAGGCAACGATATAAATGGGAGACACTTCAACACAAAAGACAGGGACAAATGGTTATCTTCAAGAGAAAAATCAATTTTCTGCTCATCATCTTCACATACAATAATCAACTCACTATACACCTACCTGTTTTGTGAATTCTTATTCACTTGATATTGCCCCAGTTTCCATTTTGGTTTTTCGTTTTTGTTTTTTTTGAGGCAGACTCTCACTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGATGCGCACCACCACACCCCGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTTACCATGTTGGTCAGGCTGGTATCGAACTCCTGGTCTCAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTAAGATTACAGGCATGAGCCACTGTGCCCAGCCCAGCTTCCATTTTGAATTTGCTTTGAACACTCTCCAAGCAGAAAATGGGTTTGTAATCTCAGATACACTTTCTTGTTCTCTACCTCCTCCTCCTTCCTCAATGTGGTTGATCCAGATATCTCCCTTACGTAACCATCTTTCTGTCACCATGTCCCTATGGGACAGCTAAATACAACTTGCCTGACTCACCCCCCACAGCCCACATGGACTGCAGACATGTGTAGCAGTGACCACCTCTCAGTCAAAGCTGGACTCTGGGGAACTTGCGCATACTTCCTTTTAAACACACCAATTAGAACTCCCCAAGAGAAGCCTGGTTGGGTAACCCCTGGGCCCCAATAAAGGCTTCAGCTCATGAGTCCCCCTCCCTCTCTTGTTCCGCACATACTGGTCAAGTGTCCATGTAACTCAAGACCGCTAACTCTTGGTCTTCAAGGCATGCTAATCTCTTCTGTCTAGGATGTCTATGTAAATGCACTGTTTCTATTATTTCCTGTATTTTGTTGAGTTGCCTTTTCTATGTCGCACCTGACCAACACATCTGAACCTAAGTTCTATCCAGATCAAAGCTCTCTTTGTAGGATTGTCTTGGCTGCGGCTGTCTTGGTAGAAATAAAATAAAAATTTGTCAGAAAAAAAAAAAACCCACGAAATGTCAGCAAAAACAAGTGTTCTTGAAGAGGAACACTTGGTCACTAGTCTGACATTTAGGCATTATTAGGCCCCGACCAGGAAAAAGAAAAACCTAAAGGGTCACATTTGGCTGGCTTCCAAATTAATCTACCTGGGGGAGGTCTTCTGATCCACGGCCCACATCCTGTCCCTGAGTAAACAATCTTATCCTGGGCTGGGGGTGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGCCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATAGAAAATTAGCCAGGCATGGTGGTGCGTGCCTGCCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTGATGGTGAGCGGAGGCTATGGTGAGCCGAGATCACACCATTGCACTGCAGCATGGGCCATAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGAATCTTATCCTGAGTCCCTCAAATCATATTGTGAGTTCTTCAAACTGCTGATGCTCTCATTAACATGTAACCTACTGACATCAAAAAGGATCCTGATTCGTTTCTAAATCATGAAGTTTTCCTGATTGTCTTCCATGTAGAACCTTTTAGCCTGTATGTTGTCATGTGTAACCAATGTTTATAACCTCTGAATTGTACCCTCCAATGAAAAGGACAATTCACCAATGAGGAGTCCCCCTCCCTTCTCCTAAAGGTTCTTAGGAAAGCGTCTGATTTGTAATGGAGGTTGGAACACATCCAAATTTGCTGGTGTGTCTTCCTGGGTCAATCCTCAAATTTGACCAGTAAACCTACATAAAATGACTTCTACCTCAATAGCCTTAATTTAGGTCAACAGAAGGCTCTCAGAAAGGCACAATTTCAGAAAATGAAAGCCCACAAGGGAAAAATGTTCTGCACCAATGCTAATCAGTAAAAACCAATATATACTCATATGGAGATAAATAAAAGATAAGTCTTTGTAAGGAATAAACACACACATGCGTACACGGTCAGACAGGTAATGTACACATGCCATTAGAATTTCTTAGAAAACTTAAATTCATCCATAATCTACGACCAGTAGTGGGAATATTGAGGAGAGAAAGTTACCCCCTGGGGAAGGCTCTGGAAACCAAGGGACTTACTGTGACCCCTATAAAGAGTTAGGTTGAGGAGACAGGACGGTGGATTAGACAGGATGGTGGACTTCAGACTCTGCTGTCCAGGGGAAGGGTCCGCAGACCGGGTAGTCGCCCGTAGGGAAGTCTGGGTCCTGCCCCAGCTGGTAACAGCTGGTTCCAACCAACCCCTCCTCCCGTCTCCGGACCCCTAGGCCGTGCACACGCACCATTTCCTGGCTTCCACGGTGTCCCGGGGTCTTCTCTACGGCTCCTGCGGCCTGTGCGGGTCCCAGTGTGCCAGAGGCTGCCACAGAACTTTCAGGGCGTCTCTTAGCAACAGAGCTGGGAACCAAGCGCAAGGAGTGGAGAAGATGCCCTGGGCTCTTGGAACCTCACAGCCTCCTCGCGGCAGCTCCCTTATTCACAGTTCTCACGACCCCACCCCACGTCCCTGATTGAGTAGTGTACCATGTCCTGCCCCCTGGGGAACTCAGTGACAGAAGAAGGTATCTCTTGGTGCTGAGTGGAGGCAGAAAAACAGGTTCCAGACCCAGACCCTCACAGAGCGATCTTCTTGCCTAGTGGTTCCTAGTGCTGTGACCTTATCCCGCCCCTGGGGACATTTGCATGTGGGCATAATTTCCCACCTGTACTCAATGAGCTCTTACTACCTCTTCCCCTGGACAGATCACAAGTCTGTGCTGGGAATCCCAGACCACTGTCCAGTGGAGCCATCCCCTAGCCTCAGAGCAGGAGGGGAGCCCAAGCCACACAGGCCACCCTGCAGCAGGAGGGAAGGCCTGATATCCTCCAGGGATCAGGAATTTCAGATGGGGCTGCTGGCGACATGGCCAAGCCTTTCTCCCACCTTATCTCTCAATCTACTCATTTTCAGCTCATAAAAGCACATCAACAATGAAATAAAACTGTTACATGCATGGAAAAACTGGAATTATAAGGCAACAGTCTTCTATAAAGGAATCAAAAGAGAAGAAAGGAAGAAACATGAACTAGCTCAAAGCAGCAGCCTGCTGAACCCACAGTTCACAAGCAAACTCCCTTTCAGGAGGTCAAACAGATTCCCAAGCTTAGGAGCCAAACTCTGACTCCTGAAACAATCTAGTGATGAGGCAGGGACATGGAAGCATTTAACTTTTGGCACTCAACTCGCCCTCCTATCCTGCTTGCACACTGTGGAAACACTCCTTTCTTCAACACTTTAAATGTTAACGAATTAAACGCTCCAATCAAAACCTGAAACATTAGACTTTGAATCTGAAAACATGAGTTTTGCCATGTTTTTAAGGACCAGACATAAAAGCATTGTGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTACCTAGCACTACGGGAGGCTGAGGCGGGCGGATCAGCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTTCCCGGGAGGCTGAGGCAGGAGAATCGCTGGAATCCAGGAGGTGGAGGCTGAAGTGAGCTGAGACTGTGCCATTGCACTCCAGCCTGGTGACAAAGCGAGACTCCACCTCAAAAAAGAAAAAGCATCATCAACTGAAAGGTGGAATCCATTGCTAAAAGAAAGGAACCAAACATGAGGTGTCATCAGATTAAATGAAATCTTCTATTTTTAAAAACTGTAGCTTTTCCTGACAGGGAAAATGGGCATGTTTGGCAAATAAGAAATAAATGATGTCTGATTATAACTCATCAACAAATAATTTTCATGTCTTAAAAAATGACATACACACACACAGTCTATTATCACAAGATTTTGTTCCCTCCTTGAAGGATAAACTACTGCTCTGCAAGATGCTCCACCCTTCACTCCTCACATTAACTGCTGCTAGCATATTTATTTGTTCCAAAACAGGTATAAAAAGAGGGTTCAGTGTGTCAAACTACATGATTGTTAGAGGTTTATGTACAGATTTTGTATATTTTTACAAACTGCACCAGTTAAGTAGTTGATTTATGTTGTTTTTGTTTTTTGTTTGTTTTTAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCAATTTCGGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCTTCAGTCTCCCAGGTAGCTGGGATTACAGGCATGCATCACCACTCCCGGCTAATTGTTTTTTGTTTTTAGTAAAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAGCCTACTGTGTTGATTCTTACAAAAGCTCTAGTACAAAAATAAATGTTCACGTTACCATGATGAAAAACTCAGGAATGGTGACTCCTCGATTCCTCTGAAAAACAATTTTTTTTAACCCTAAGAGAAGCTAGGAAGTCTACAGTAAATGGCTGGAGGTGATCCCTGAGAGAACACATTTTAGTGGAAAAGGTCACTCATGGAAAATACCAAAATTTATATGTAGCAGTTTAAATATACTACAGGAAACACTGCGATTACATTCTTCAGTTACCTCTATGACAGCATGATGGTTTTTTTTTAGGTAGGGTGTTTCTTTTTGGTTTTCTTTTAAAAAAGAAAACTGTAGGCTGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCATATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGTCATGGTGGCGGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACTATAAATCTTTCCCCACAACTGTAAATCTTTCTCATTCATAGAGATATCTTCCTAAATGTGCTACTAAACTTATATTTATATTTTCACCATTTCAGTGTGACTTCATTTTAATGCATGCTGTTATAAGGGTCTCAGTTGCTCTTCTCTGCAGGTCAATATCTGTTGCGGGAAGTCAGGGACACCAAATGGAGGGACCGGCTGGAACCGTGACAGAAGAACATAAATTATGAAGATTTCATGGACATTTATCAGTTCCCAAAATTAATACTTTTATAATTTCTTACGGCTGTCTTCACTGCAATGTCTGAACATAAATTGTGAAGATTTCGTGGACATTTATCAGTTCCCAAATGATATTTTTATAATTTCTTATGCCTGTCTTTAATCTCTTAGTCCCGTTATCTTCGTAAGCTGAGAATGTACATCACCTCAGGATCACTATTGTACAAATTGATTATAAAACATGAAATCAGTGCACCTTAAAAAAGAACAGAATAACAGCAATTTTCAAGGAACAAGGGAAGATAACCATATGGTCTGACTGCCTGTGGGGTCGGGCAGAATAGAGCCATATTTTTCTTCTTGCAGGGAGCCTATAAACGGATGTGTGAGTAGGAGAAATATCACTGAATTATTTTCCCAGCAAGGAATACCCTGGGGAAGGAATGCTTTCCTGGGGGGTGGTCTATAAACAGCAACTCTGGGAGTGTCTGTCTTACGTGGTTGAGATAAAGACTGAAATACACACTGGTCTCCTACAGTACCCTCAGGCTTACTAGGATTGAGAAATTCCAGCCTGGTAAATTTTGGTCAGACCGGTTCTCTGCTCTTGAACCCTGTTTCCTGTTAAGATGTTTATCAAGACAATATGTGCACAGCGGGACATAGACCCTCATCAGTAATTCTAATTTTGCCTTTGCCTTGTGATCTTTATCACCCTTTGGAGCATGTGATCTTTGTGACTTACTCCCTGTTCACACATCCCCTCCCCTTTTAAAATCCCTAATAAAAACTTGCTGGTTTTGTGGCTCAGGGTCGTCATCACGGTCCTACCAATATGTGATGTCACCCGTGGAGGCCCAGCTGTAAAATTCCTCTCTTCGTACTCTTTCTCTTTATTTCTCAGACTGGCCAACACTTAAGGAAAATAGAAAAGAACCTACACTGAAATATTGGGGGCTGGCTCCCCCGATAAATATCCAATTTTCCTAGCACCCTGTTGAAAAGACTTTCCCCATTCATGTATCTTGGCCTATTTGCTGAAAATCTATTAACGGTCAATGAAGGGTATCTTTATCTGTTTCTGCTGATATAATGAAATACTATAGATGGGGTAACTTATAAGGAACAGAAATTGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGTCATGGTGGCGCATACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGTATGCAGTGAGCCAACATCACGCCATTACACTCCGGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAACAGAAATTTATTTTTCACAGTCCTAGATACTGGGAATTCCAAGATAAAGGTACTAGCATCGGGTGAGGGCCTTCCTCTTGGATCTTCTGGAGGGAAGAAATGCTTGCATCCTCACAGGGCAGAAGACAGAAGGGCAAGAGAGGGCAAACCCCATCCATCAAGCCCTTGTAGTGGCATTAGTTTATTCATGAGGGCTTTGCCAAAAGGCCAAAGGCCTGCCTCCCAAAACTGTTTCACTGGGGATTAAATTCTAACCTATGAATTTTGCAGGGGAAATAAGCATTCAAACCATGGCAAAGGGGATGATTTCTGGACTCTCAGTTCTGTCTTACTGATCTGTGTATCAGACATTTTTCCAGTAGGTCTGGCTACTATAGTCCTTGACCTGATGATGGAGAGCTCCACCCCATTCCACATGATTGTCATGCACGGATAGAAATGGTCCTAAAGCCTCCAGAAGATCTCCTTGACATACTCTTAGACAACATAGACTTACTTCTATTTTGGGATAGCTCCTGTAAATGAATTGTTAAGGAAAACATAATAATGGGTTATGCAATATTTTCTTTCTTTGTTTTTTGAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATATTGGCTCACGCAGCCTCTGTCCCCCTACTCAAGCAATCCTCCCACTTCAGGTTTCCGAGTAATTGGGATGACAGGCATGCACCACCACACTCAGCTAATTTTTTAACTTTTTATAACAACAAGGTCTCACTCTATTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATTCTCCTACCTTGATATCCCAAAGTGTTGGGATTACAGGCATGAGCCATCATGCCTGGCCTAGGCAATATTTTCTCTACATGAAACACTTGAGGCATACTCTTCACTCACTGTAAAATCAGTATGAGCCTAGAGCTCATAGCTCTTACTACATCTTGCACGCTGACAAACAGGAAAACTGCCTCTACTGACACAGACTGCAGATATGCTTTTGGAATTCCTTATGCAACTGGCACAATTTGAAAAATTTGTGGATTCACAACTTGTTCTGGTATACCCACTGCCGATAGACACATAACTGGGCTACTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTGTGTTGCTGGGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCACCACTATGATCAGCTAATTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACCACGCCCGGCCCATAACTGGTGAACTATTACAGATGATTTGCCTCCCTATTAAAATGGCCACTGTTCACTGTCTAGTCCATACTACGGAGATTTATACTATATCTCTAGGGAATGATAGGGCTCAAAAGATTGCTAAATAGGAAGCCAAAAATGGTACCTTGTTCTTTCCCAATCCAGTTTGCAAAACTGCCTTTACCCGTGACTGATATTATCAAGTAAATGTCCCATAATCTAAGAAGATCTATAGATACAAAAGGGAAAAATAGTATTGTAGAGATTATACATTAGGCCAGTCACACTCCCTGTGCTATTAATACTTTCCTTCAATCTTTTCCCTTACACAAATCTCTCACCAAGTTGGACATAGAGGCAGATGGGAAAGAGTTAAGAAAACGAAAGACAACTGACTGGCCTGGCATCTACAAAATTACTGACCCACTTATTTCTCAGTGCATTACTTGTAACCCACCCAATTTCTGGATGAAGCTCACAAATTTCACAGAATCCTCCAACACCCACACTGACCCTCCCAGCCCTCCAAATGGATGGTTTATCTACAACTGTAGTCAATTCTCATTGTTTAGTGATTGTCTCCATGTTTAGTGGATGGGCGCAATGCTATACAGCTAGACATGATGATGCCATCAGTGGTAAATAATTAATCATTGAAATTATTCCTGGTTTTAGTATTCTTTTGTGGACAGAACAAAACCAATGAGGTAATTTTATATGTGCTGCTGAAGCGAGCACAACCAAGGAGGTAATTTTATAGCTGATATAAACCACATTCTTGCAAAAACTACGGAAGACTTATTAAAATACATACCATCCTTAACCATCAGAGCAAAGAGAATATAAAAATCTAAACATAAAAAGGACTTTAGAGAAATAGCTGTCAAAACACTGGACTTCAATGGCCAGAAGCATTAGCCCTGGCCCTTATAAAAATCTGAAATACTACCAACAGTAGACATGGATTATCTCCTTTTCTGTAGTTTTTGGGTTTTGGTTGCACTGTAGCTATTGGTATATCTAAACTTTACATTCCTGGATTGAGTAAATATTCTTGGGAATGAAGTGAACAATATGATGCTATGACTAGCTACATGTAAGAACTAACCAGTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCAAAACTAGTCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAGTTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGGAGGATGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCGACACAGTAAGACTCCATCAAAAAAAAAAAAAAAAAAAAACTAACTAGTATATTTGGAGCATGTCATCAACAGGTTAAAAAAAATGCCATCACTTTTGACCAAAAGATAAGGTATTTCCAGGTGTGGTGGCTCAGGCCTGTACTCCCAGCCATTTGGGAGGCCAAGGTGGGAGGATAACTTCAGTCCAGGGGTTCGAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCTGTAAAAAAAAAAAAAAAAATTAGCTGAATGTGGAGATATGTCTCAGTAGACCTAGTTACTCAGGAGACAGAGGCAGGAGCATCACATGATCCCAGAGTTTCAAGGCTGCAAGGGGCTGATCATGCCAGTGCACTGCAGCCTGGGCAACAGACTGAGACCTTGTCTATAAAAAAATAAAAATAGGTCAGGCACAGCGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGCTGGATCATTCAAGGTTGAGAGTTCGAGACCAGCCTGGCCAATATTAAACCCCATCTCTACTTAAAAATACAAATATTAGCTGGGCATGGTGGTGGACGCCTATAATCCCAGCTACTCGGGAGTCTGAGACATGAGAACCACTTGAACCTGGGAAGCAGAGGTTGAGTGAGCCGAGATTGCACCACTCCTCTCCAGCCTGAGTGACAGAGTGAAACTGTGTCTTCGGAAAACAACAACAACAAAAGAATATTATTCAGGCATAAAAAAGCAATGAATTACTGACATATGCTACCACATGGAGGGAACCTGAAAACATGCTAAGTGAAATAAGCCAGACACAGAAGGACAAATATTGTATGCTCCACTTATTTATTTTTTTGATTCGTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCATGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGTTAAGTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCATGCCGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCTAGATGCTCCACTTAGTCAAATTCACAGAGCAAGAGAGTAGACTAGACGTCATCAGGGATTGAGTGTAGAGAAGGGAAGTTGTTTTTTAATGGGTACTGAGTTTCTGTGTGGAGCGATGAAAATCTAGAGATAATTAGCTGTAATGGCTATAACACATTGTAAATGTATTTAATGCTCCTGAATGACACACTTAAAAATGATTAAAGTGGAAATTTTATGTTAGTACATGTTACTTCAAGACAATTTATGAACAAAAGAAAAGACACAATTCAAGCTACTATATATGAACACAACAATATCTAGAAGCACTGGATGGAGGTTGGTGTGGTGGCACATGCCTCTAGTCCCAGCTACTCAGAGCCTGAGGTGGAAGGATCGCTTGAACTCAGGAATTCAAGCCCAACAGGGGCAACTAGTAAGACCCTGTCTCTTAAAAAATAATAATAATGATAATAATAATAATAATAATGCACTGAATGGACAAAACAGCAGAGGAGATATTGCTGAAATAAAGATAAGTGAACCTCAAAAACTAGGAGTATAACCGATTTAAAATATAGCACTCAGACAAAAAAATGAACAGAACCTCAGTGAGCTGTGTAATGGGACAATTGTACAAGGACTCCTTGAAAGACAGGAGTAAAAACAGAACAAACAAAAAATATTTCCATAAATATTTCAGGCCGAGCACAATGGCTCAGGGGTTTATTGAGCTTTTTGGATCTCTAGGTTTATAGTTTTCATCTAATTTGGAAAATATTTGCTGTAATCCCAGCACTTTAAAAGGCCGAGACAGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCATTTGAACCTGGGAGGCGGAGGTTTCAGTGAGACAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAACAAAACAAAACAAAACAACAATAACAAAACTAGCAGTAACAATATGTTTTACACAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAAAATTAAAAATTAGCCAGATTGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCTTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCAGAGCTTGCATTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAAAAAAAAAAAAAAATTAGCCAGGCATGGAAGCTCACACCAGTGGTCCCATCTACTCAGGAGGCTGAGGTGGAAGGATCACTTGAGCCTTGGAGGACGAGGCTGCACTGAGCCATATTCATGCCACAGCACTCCAGCCTGGGTAACAGAGTGAGACCCTGTCTCAAAACAAACAAACATTTGTCGCATATTTTCCAAAACAGATAAAAATTATGAACCTACAGATGCAAAATGCTCAACAAACCACAGGCACAATATATATCAACAAATCTACACCAAGACACAGCATCAAATTGCTGAAAACCAGGTATAATAAAAAATTCTTTAAAGAAACCAGAGAAAATAGACACCTTAACAACAGACAACCAAATGTAACATTGATTACATACTTATTATCAGAAACAATGCAAACAGGAAGACAATGGAGTAACATCCTTAAAGAACTAAAAGAACAAGGATATCAACAAAGAATCTTATATTGAGCAAATAATATCTTTCCAAATGAATGGAAAATACTTTATTTAGTCATAATAAATGTGTTTGCAATCAGCATATTGGCTCATTGAGAAAGGTACAGCCGGGTGTGGTGGCTCACGCCTGTAACCTGAGCATTTTGATAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGATTTCAAGATCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTATAAACACAAAAATTAGCTAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGGAGGATGCAGTGAGCCAAGATCGTGTCACTGCACTCCAGCCTCGGCGACAGAGTGAGATTCCGTCTCAAAAAAATAAAGGTCCAGCTGGGTGCAGTGGCTCATGCCTGTAATTGCGACACTTTGTGACGCCGAGGCGGGAGAATTGCTTGAGTCCAGAAGTTCAAGACCAGCTTGAGCAACACGGCAAGACTCCATCTCTACAAAAAAATTAAAATGGCATGGTAGTATGTGCCCGTCCAGATCACTGAATCCGTAAAAAAAGAAAAACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGTCGAAGCAGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACAAACATGGTAAGATCCCATCTCTACTAAACATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGACGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGAAAGCAGTGAGCCACGAGATCATGCCATTGTACTCCAGCCTGGGTGAGACAATGAGATTCCATCTCAAAAACAAAGGAAAACAAAACAAAAACCAAACAAACAAAAACCAAACTGGCTGTCTTACTACTGGGGTGGCTGAGTAAGTCCTCTAAACTACTATTCCTATCAAATGGTCCTTGGACACACCCTTAGAGTTTTCTCTTCCCAAGATGATTTTTCATCTTGGTAATATGGATAGACTGGGAATTTTCCAAATCTTTTTGTTTCAGTTCCATCTTAATAATTCCATCTCCAGTCAAGTCTTTCCTCACATTAGTATATGCAGTCAAGAGGAACCAAGCTGCCTTTTTCAACACTTCTTAGAAATGTTGTCAACTCAATATCCAATTTCATCACTTCCTAGTTCTACTTTCCACAAAACTAGCACAGGACCACGATACACAAAGTTCTCTGCCACTTTATAAGAAGAAATCAACTTTTCTCCATTGTGTAATAACATTAACCTCAATTCTCTTTTTACATATATTTTAGTTTGTTTCAGAAACAGGGTCTCACTCTCTCTCCAGCCCAGGCTGGAGTGCAGTAGCATGACCTAGCTTACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCTGGTGACCTCAGCCTCCCTGGTAGCTATGACTACAGGCATATACCACCAAGCCTAGCTAAATTTTCCTTTTTTCTTTTTTTGTAAGGATGAGGTCTCACCATGTTGCCCAGACTGGTCTTGAACTCCAGGCCTCGGTTGGGCATGGTGGCACACACCTGAAGTCCCAGCTACTTGGGAGGCCTGAGGCAGGAGGATCTGTTGAGCTTAGGAGTCGGAGGTGGCAATGAGCTATAATCACGCCACTGCACTCCAGCCTGGGCAACAAATTGAGATCCCCATTTCCAGGAAGGAAGGGAAAGGAGAGGAGGGGAGGGGAGGAAGAAGAGAAGAGAAGGGAAGGGAAAGGGGAAGGAGAAGGGGAAGGGGAAAAGGAAGAGGAAGGGGAAGGGGGAAAATCCAAGCCTCAAGCGATCCTCCCATCTTGGCCATTCAAAGTACTGCCATAACAGGCATGAGCGACCATGCACATTCCACTTTCATTTTTGAGGATCCACTCTCATAATCTAACCTAATCCTTATCATATCTCAAAGAAACCATTGCCTAATACTGCCACATCAGGGAAGTGGAAAAATAAATAAAATTTTCTACAAACATTTATTCCATAACAAGTGATTAGTAGCTTTTTATCATTTTCTAAATACTCTTCATGTTAATCCCTTATCAGATATATAATTTGGAAATGGTTTCTCCCATTCTATGGGTTACCCATTTACTCTGTTAATATTGCCTTTTGATGCCAAAGGTCCACAAAATCCAAATTATTCTTTCCCTTGTGGGTCATGCTTTTGGTGCCAAATCTAGGAAATCATTGCCAAATTCACTGTAATACAGCTTTTGCCATGTATTTTCATCTAACAGTTATACAGCTAAGATGGACACTCACATATTTCGTTCATTTTAACTTCTGTACATGTTAGGTATGGGTACAACGTCATCCTGTTGCATGTGGATGTGCATTGCCCAACAGCATCATTCTACAGAAACATTAAGCTATCCCCCATTGAATAGTCACAGCAGACTTTTCAGTAATTGTTAGACTTTATGTAAATTATTAGACTTTATTAGACTTTCTGTGTTATCTTGTTGCATTGTCTATTTCTGCGTTATTACGCTAGTACCAAACAGTTTTTATTAGTATGGATTTGTAATAAGTTTTGAAATCAGGAAGTGTGAGTTCACCAACTTTGTTCTGGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCTCAGGCTCAAGTGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACGCGCCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGATGCGATTTCACCATGTTGGTCAGGCTAGTCTCCAACTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGCGGTGGGATTACAGATGTGAGCCACCACATCTGGCCATTGTTCTGGCTTTTGAAGACTGTTTTGTTCATTCAGAGACCCTTGAGATGTCATATATAAAAAAATAAAAAATGTTAAAAAATGGCTCCTAAGAAGGAATCAAGTGGTCAAACCTATCCCTAAAAGGCTAGCAGGGGACAAAAAGTGGTATCTCTCAATAAGAAAATACAAACCTAAGATGTTTTGAAAAGTGGTGTATCACCTTGGAAAGTTCGTCATAAGGTAAGAACAAACCAAGAAATCACACACTAAAGCAGAGAGAAGCTGAAGTTCCTCAAAGTGTTAGAGCTGCCCCTACAGTGGCAAAAATGATCCCTCTAGTTCATGATAAACTAAGGATAAGCATTAAGTGTGTGGCTAGAGGACACGTCACAGAACCACAGCCCTACTGATGGTAACATCATACTTGAAAAAACACTTAGCCAGGCCAAGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGATCAGCCTGACCAACATGGTGAAACCCAGTCTCTACTCAAAAGACAGCTGGGTGTGGTGGCGCGCACATGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGGGGTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAGCAACACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAGAAGGAAAGAAAGAAAAGAAAACAAAAAACACTTAGCCTCTGTAAGCATCACTGTGAGGGGGCTGAGGAGAGCAAGAGGAAGGAGTTTGAAGCCAGTAAGTTCTGGCTAGGCTAACTATGCAACACAGTGCAGCCCAAGAACTTGAAGACCACAGGAGAATTGGCATCGGCTGATGCCAGGGAAACAACAGCATTCCTAGAAGAGCTCATAAAACAGAAAAAAGACACTACCTTCCAGAGTAAATCTTCTATTGTCATGAATCAGGCATGTTCTAGAAGATGCCCAATGGTACCTTCATACATGAGTGCAGGTACTGGGGTTCAAGGCCTGGAAAGACCACCTTTTTCTGGTGCTGTCAGGCCATGCATTAGTTCATGAGAACAAGCGAGGCTTCGTCTACTGAGCAATCACCAGGTTCTTTAGGACAAAAGCAAAACTTGCTGGCCTGTGTCCTGGCAAGAACATAAGAAGGCTTTCTTCTAGCAATGCTTCACTCCTGATGTGATGGAATACCTCAAAGAGAAGGGACTGCCACTCAAGGTCTTCCTCAGAATTGACAACACTCCAGGCCATCTCTCCAATCTCTGTTTTGCCTAAAAGAACATGCAAGTGATATTTCTGCCTCCTAAAACTACATCACTGCTGCGTCACTAGATCAAGGCATCAAGTGCATTCAAGTGACTTACATCCTTGGGTGAATTCATGGAGTCTTGATGCTAACCTTGAATGTACCACAGTGGTTTTATTGAAGAGCTTCACAATTACAAATACAATTGTGCTTATTGGGAAGGCTACAGATGCCCTAAAGCCCAGGACAGCCAATACATGTTACAAGCCATCATGGGGTAAGGGAGTCAATGATTTCAAGGACTTCCCTACTATTAATGCAGTTATTAAGAATATGTGAAATGTTGCAAAAAAAGTTGGTGGGGAACGCTGTCTGAAATGACTGAGGATGACGTTAAGGAACACACCGAAAAGCAAAGAGAAACCCTTACCAGCTAGGAACTTCAAAGTCTGCTGAAATCCACTACAGATGATGATGAGCTAGAAAACTTAGAAGACACAGAGCCATTGATTTGGACACTTGAAAAGTTTGCCACAGTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTATAATGGAACAAAGCTTTCAATCTACCTGAGAAACAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAGCTAAGCATCTGCAAATAAGACGGAACATTCAATGGTTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTACAGTGGAACAAAGCTTTCAATCCACCTGAGAAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAACTAAGCATCTGCAAAGAAGATGGAACATTCAATGGTTACAGATCTTCAGCCCTCAAGCCAAACAGATCCTAACATTAGTATTACATAGCCTCCTCAAATGAGTCCACATCTATAATCACAAGTTGGTTCTTCCAACATAGATGATAGTCCTGATGGCCTGTCAAGATTCAAGTTAACCTGATGTCTCACTACTTACCCACAATGCCATACATCTAGTCATCTCAACACATCAAAACACTGGGCACCACAGAATCATCATCATTGTTATAATCACTATACTTGGGTTATCAAGAGAGAAGACCCAGGGTTTTGGTAAGTGTTAACACATTAAACAGAAGAAATAGGTGAGAGTTGAAACAAAGAAACTTTAATGTTCTGGCTGACTACACTATGTTGATAGGCTCACAATTACTGCATCTATACTGAAAATACATAGACTCTTTTCCTTATCATGATTCCCTAAACAATACAATAGAACAACTATTTGCATAGCTTTTATAATGCATGAGGTATTTTAAGTAATCTAGACATAATTGAGACTATACAAGAGGATGTGGGTAAGTTACATACAAACATGTCATTTTATAAAAGGGACTGGACATGGCTCACGGAGTGCTGGAACCAATACCCAGCAGGTATCAAGGGATGACTGTACTGGAAAGAAACTGAAACTACTTAAGGCTTTACCAAGTGCTTACATTCACAGGGTCTATCTCCAATGTGTTTCGTACAAGTATCTGAAATGAAATAAAATTAATAAATGCTTTCCCACATTCCATACATTTAGAGAGAATGCTAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATATGGGTTCTCTCCAGTGTGAGTTTTTTTCCAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATACGGGTTCTCTCCAGTATGAGTTTTTTCATGTCCTTGAAGAAAACGGGAATGAGTGAAGGCTTTACCACATTGTGGACATTCATAGGATTTCTCTCTCATGTGAATTCTTTCATGTCGTAGAAAGCAAGTGAGCCAAGAGAATGCTTTCCCACATTCCTTACATTCATACGGCTTCTCTCCAGAGTGAATTCTTTCATGTACCTTTAAGTTATCATAATGACCGAAGGCTTTCCTACATGTTTTACACTCATAAGGTTTCTCTCCTGTGTGAGTCCTTTTATGTCGAGAAAGGTATCTGAAACGACTGAATGCTTTCCCACATTCCTTACACTCATATGGCTTCTCTCCAGTGTGAGTTGTTTTGTGATTTTGAAAGGAACAGAAATCAATACAGGCTTTCCCAAGTTTGCATTTATAGGGTTTCTCTCCAGTATGAGTTGTTTCATGCCTTCGAAGGGAACTGGAAATACGGTAGGCTTTGCCACATTGTTTACATTTATAGGGTTTCTCTGCAGTGTGAGTCCTTTCATGTCTTTGAAATACACTGGGATAAACAAAGGCTTTCCCACATACCTTGCATTTATGAGGTCCATCTCCAGTGTGCATTATCATATGACTTCGAAAGCTTGAGCGATGAGATAATGCTTTCCCACACTGCTTGCATTCATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGACTTTGCAGTGAACTAGGACAATCAAAGCCTTTCCCACATATCTTACATTTATGAGGTCCATTTCCAGTGTGCCTTATCATGTGTCTTTGAAAGCTTCCCAGATGATGAAACGCTTTCCCACATTGCTGACATGCATAGGGTTTCTCTGCACTGTGAGTGGTTTCATGTCTTTGAAGGGAACCGGAAACACTGAAGGCTTTCCCACATTGTTTACATGTATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGTATTAGACAAGAACTGGAATCAGGGAAGGCTTTAGAACACTGCTTACATTTATATGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGGAAAGGCTTTAGAACACTGTTTACATTCATACGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGAAAAGGCTTTAGAACACTGCTTACATTCATATGGTTTCTCTCCAGTGTGCGTTCTTTCATGCATATGTAATAAACTGGGCCAAAAAAACGCTTTCCCACACAACTTACATTTATAAGGTCCATCTCCACGCTGCACTGCCATGTGTCTTTGAAGGTTTCCCAAAGAACTGAAGGACTTCCCACATTCTTTACAATCATATGGTTTCTTTCCAGTGTGAAGCCTCTCATGTGTTTGAAATGAGTTGTGGTAACTGAAGGCTTTCCCACGTTGTTTATGCGTATCTGGCTTCTCTCCACATTCATGATACTCATGTGGTTTGTGCCCAGCACCAACTCTGATGTAACAATTAAGGGATGAATGACCCATGACTTTTTCTCCTCTCATACTGCTTTCACAAGGACCTACTCCAGGAAGAGTGTTCTTGGTCACAATACTATCTTGAATCTGGCTAGATGTTTCTCCACATTGAGTTCCATCTTTACTTTCAACAAATCTCTCTAACATACGACATCTGTAAAAAATGGGAAATATATCACTAAAAGTCGGTCTATAAATAATTGTATAGGTATTAATAAGTATTGGATGTACATTTTTAACACTATCATGCGAAGTGCAGGCTTCGTGTCCTGCTTGAATGTGAATGGATGGAATGCTGTGCAAGGTAACTCGACCCAGGTGTTCTCAAGACAATCACATTCATATGTGGATTCATAATATTGTTGTCATGGGAACTAATTTATGAACACTGAACAGCTATGGAACATTTAAGTATATATTTTGGAGAAAATTTTCTAAGAATAAATAAATTTAAGCTAGCCTTGTTCATTTTCTTTGCTTCTTTTTAAATTTTCATGTCATTCTCAGAACGGCTCCAGGGACATATCTTTCTCTTGTGAGTGTAAATTACCTTAGATTTTTCCTGGGATATCTATATTGATCTTCAATGTTCTGGTCTTTCCATTTCATTACTAAAAGGTATACACAGAAAAATCATTACAAATTTTTACAAAATTATAGACAAACAGTAACATTTTGATGTACACTGCAATCGTTCAAAATGCATTCACTGAAGTACACCTGACTCTTGAAAAACAGAGGTTTGAACTGCACAAGTCCATTTGTATATACATATATATATGAATGTTCTTCAGTCTCTGCTACCCAAGACACTAAGACCAGCCCCTCCTCTTACTCAGCCTACTCAATGTGAAGACAATGAGGATGAAAACCTTTCCGAGGATGCACTTCCACTTAATGAACAGTAAATATAGTTTCTCTTCCTTATGATTATCTTTTTAACACTTTCTGTTTCTAGCTTACTTTACTGTGAGAATATACGATGTAATAATACGACATAAAATATATGTATTAATCACTGCTTATGTGACTGATAATGCTGCCCATCAATAGTAGGCTAAGATGTGGACAAAAAGTTATATGAGGATGTACAACTGCTACAGGAGCTGGCACCCCTAAACCCTGTTTTTTTTTTTCCAGGGCCAACCATATCCCCT	-	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	TTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGCCTGATCCATCCCACATGTACAGAGGAGGAAGGGTGAAAATCACAGTACTGAGAATCTATACTCACTTCATAAATTTCACATGATGCTGTGGTTTCCAACCATTTTATTCAATGACATGGTAAACCCACTCTTATTCTCTGTCTACACTCACTTTCTCCTACACAGTAACTCTGAAGCTACAGTTAAACATGTTTGGTAAATTAACAGTGGGATAGAAACATGCCACTTGTTGGCGAACTGAGTGAGTGAATCACATAGCCTGGATCACCCCTAATGTTGATTTCCACAGTGGGTCTGCAGTCCTTGGCACGATAAAGTCCTACTACTTATTGTGCAAAAGGGAGTTACCATTAGCAGTGCTGAGACTGTGTGTCCTTACAAATGCTTTTTCACAAAGTTGGGCTTTTCATGGTATCTAGACAGTGTATTTAGGGGAGGGCCCCAGGAGCGTAACTAATAATAGGGGTGGAGTGTGCCTAAATTGTTTACGCAAAAAAAATACAGTATTTCCTTAACCCCATCTTCCTTCTGAGAGTTTGGAATTTTGTTACATACTCAGCACAGGGAGTGCACCTGATCAGCCACTGCTAGGTTTGAATGGTTGTCCCCTCCAAAATGCACACTGAATGTTAATCTCCAAAGTGGCAGTAAAAAAAAAAAAGTGAGGTTTAAGAGGTGATGTAGTCCTAAGGGTTTGGACCTCATGAATAGATTAATCCGTAACGGGTGAATGAATAAATGAGCTATCTCATGTCCTTCTGAGAAGAGTAAGAGATCTGAGCTAGACACTCAGCTCCCTCACCATGTGATACTCTATGCCGCCTAGGGACTCTGCAGAGTCCCCACCAGCAAGAAGGTTCTCACCAGATGCCCAGCCTTAACCTTGGACTTCCCAGCCTCCAGAAATGTAAAAATTAAATACTGTTTCTTATAAATTACCGAGGTTCAGTAATTCTGTTATGAATAACAAGAAACAGGCTAAGACAGCTACAAAGAAACACTCTGGGCATTGGGTCTATAATGAACTTTCTGGGTAGATAACATTTCACGTTTTGTTGCAACTTGTTATTTGGGGGATTTAGCCCATCCTATGTGATTATACTTACAGAGAATATTTGGAAGCTGGCAACTAGTTTCCTTTAGATCAAATGTACTGAAGTATGACAACAGACTGAGAAAAGATATTACACCACCTCAAAGGAAAAATTTTAAACATTTTGAGTAACGCCAAAGGGGAAAGAAAGAAGGGGAAAGACTGCACATATTCTTAGAAAGAACTCAGTGTCATCTCTCATGAATATTTATAATACTTACTAAGAAACTAAAACAAATCTTTTAGTAGTCAACAAAAATTACATTACCAAATCTAATAGAACTCACAGTATCTAAAAAATGCTGAAAGCCTTCTCACCAAGAAAGTGCAGCATTCCAAAAACAAATAAAGGATTTTATTTGGCACCCCGTACTATTAACAGAGAGATAAATATATATATAAAGAAAAATGAAAACTGGTAGAAAAGTCTTGTGGAGCTTTTATTTGTCCTTGGCCCAATCCCTCCCCCTATCAATACCAGTCTTGAACACAGCAGCCTGAGTTCCCGGTATAGAACCCTGGACACTAATTCTAGAGACAGCATATCAGATCTTATTTGCAAATTATTGCCTTGCATTTTCCAATCTGTATAAGGACTATCCCGAGGTCTGAAACAAAGCTGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGCCACACAACCTTGGCTCACTACAACCTGACTCCCGGGTTCAAGTTATTCCACCCAGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCATGCTCCACCACATCCGGCCAACTTTTGTATTTTTACTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCGCCTGCCTTAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACAGTGCCCAGCCAAGGCCCTCTCTTCTACTTTATCTACAATACAACACGATCAGGGTCCAATTTGGCAGGAACTGCATGAAAATGTTGCAAAATACACAAAAAGCCTGTAGCCAACTGGAAGAACAGACTATGATTAAGACATACAGTAGACCAACTAAGTCATGGAGAAAAAGAGCTGAAGAGAAAATGTCCTCCAGATATCAGGGTACTCAAAAGCACCCAGGTATCCTGGGGAATTGAGAAAGCCCCATGCATGCACAGTAAAGAACACATTTTCACAAAAGACACCGGAGAAGAAACCCTCATTTTCACTTCTGGCTGATCTGTAGCTTTAAGTAAGCAGAACATAAAGCATAAGTAGAGTATTAAACAGCCTGGCTAAGTGTTCAAGGGATGCCCCAGGCACAGAGCCATCCACAAAGACTGGAAGAGGTCAGGCTTTTGTATGCTTTATCTTTTTTACTAGCTTCTAGCATTCAGGAAATCTCTGCCAGAACACTGGATGAACACACACTAAAGAACAGAGATGTCAGTTTCTACAACAAATAAGGAATACAGTCTGTGCAAACATACTTTGAAAATGTTATTAAACAAATGAACAATTACAGTCTTCAACACACATAAACAGAAAACAGTGAGGAAAGAAGAAGAATCCAATTTTCAGAATTACCCCATTATAACATTGAGATGTCTACTTTTCAACACAAAATTATGAAGAATACAGAAAAACATGAAAATATGGTTCATCAATTGGAAAAAATATAATTGAGATAAGCCATCTCTGAGAAACCTCAGACACTGCACTCACTGAATAAAAACGTTAAAACAACTATCTTAAATATGTTCAATGAAGTAAAGGCAATGATGAACAAATAACTAAAAGAAAACCAGAATACAGATATAGAGATAAAATAATATCTATTAAAAAGTAGAAATTAACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGTGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCCTATCTCTACTAAACATACAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGACGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCAACAAGAGCGAACCTCTGTCTCAAAAAAAAAGGGGTAGAAATTTAGCCATATAGAATTTATGCAGCTGCAGGGTACAACTAAAATGAAGACATCATCACAAGTGTTCAAAAGATGTGAGCAGCCAAAAAAAAAAAATCAGTTAAAATGATGATAAACCAATTGAAATTAATCTAATGGGGAAAAAAAAAGGAATGAAATTGAGAGAATGTGTTACTGGTGTACTTGTCTTGCCAATAATGTTAAAAGAAGTTCATCAGAGAGAAGAAAAATGATACAGGTTAGAAACTCAGATCATACACACACACACACAAACACACAAATATATACATATGCATATATATGAAGAGCATTAGAAAATAATTCAATGAAGGCACAAAAATTATTTCCTTTTCTTATTCCTATTGGATATCATAAAGGTTTGTTCAAAAAATAATATCAACAATGTATTGGGTGGTTATAGTTTATAATAGGGCAAATGGATGACGGTGATGTTAAATTGGGTGGGAGGGAGGAATGCTGAACACTGGGTTATATAAGCATTACCCCAAAAGCCAGTACAGTGTTACTTAAAACTGAAGGTCCATTTGTTGTGAATGGTTTACTCCAAATGCTAGGGAAATCAATAATAAAATGTTAAGAAACAACAGCCTGTCACAGTGGCTCACCCCTGTAATGCCAACACTTTGAGATGCAAGACAGGAGGACTGCTTAAGATCAAGACTTTGAGTCCACACTCGGCAACACAATGAGACTCTGTCTCTAGGAAACGTGTAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCCTGCACCTGTAGTCCCAGCTACTCAGGAAAGCAAGTAGGGAGGATCTCCTGAGCCCAGGAGTTGGAGGTTATAGTTAACTATGATTGCTCCACTGCACTCTAGCCTAGGTGATAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAAGAAACAAGTAGACTTACCATACTATTAGAAGAAAATACAATCATATAGACTCCTCAGTTAAAATAAAAGGAGACAGAAAAAGGAAGTTGAAAAAAACCGACAAGTATAACAAATGTAAAACAATTATATATGTACATATGAATCCAGGTATATCAATAACCACTTTAAATGTGTATTATATGAATATACCAATAAAAGAAGACAAGGACTGACACAGTAGAAAAAAAACAAGATCCACCAATGTGTGCAAGAAAACTATTTTTTTATTCTCTCAAGAAAACTATTTTAAGTAGAAAGACACAGGTACATTAAATATAAAGGTATGAAAAAATATACTCCATTCTAGCCCTAATCAAAAGCCATATGGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAAGCTGGTGGATTGCCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGCGAAACTGTCTCCACTAAAAATACGAAAGAAAAAAAAAATTAGCCAGGCATGGCGGCACGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGACAACAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGGTCTTAGCTGGAGGTGGGGGCATTGGCCTCAGGCCTCTCTGCCATAGTCAAAGCTACTCTCTTACCCTTCTATGCTTTACATGGATATTTAAAAACAAAATACTCATGTTTGATGAATCCAGGAAAATCACTCAAATTCAGTGTTTATGTCTATGGGTGGGAAGGAAATTGTAAGGCACTGATATTTTATACCTCAACAGGAAAAGCCCAAATACCTATCCCTTCCAGACAATGAATGTCATTTAATTACTATTTCCATGATAGTAAGTGATACAGTTAAAAATAATTATATTTTACTTCTTTAGCTGTTGGAAAGTCCTGTCCCACAGAATTTAGCATTCATCTGTCAAACCCATATAACAGGAACAGAACAGATTTCTCCATTGTCCCAAAATCTCCACCCTTTTAAAAAGGAGAACTGAACTTTTGTTAAATCCTTTTAATTCAATGTACCTACTACACTTTCTTGTAAAAATGTATTCCTTTTTTGCAGCCATAATGGAAGAGGGTTTTTTCCTTGGTAGTAGTTATACTACTAAGTCCTGAAATTCCATCTGAAATCATCCAAAAAACAAACACACCTGAGAAACATACTACACAAGCTCTGGGGCAAAAAAAATAAATAAAGGTTTTTAAAAAATGGAATAGAAGATTACATATACCATTTATATTCTGAAATCCAACTCTTTCTAGAATTACTTATACAATTTATTTTCTGAAGTCCAACTCTTTCCAACTTTGGGTATACTTTGTCTTCAAAGTATACAATAACAATCTCTAATCATAGGATGTATTTTAAGGTTAATCAAAAATTTAGGCTGAAAAGAGTAAACATATCTTTTCAAGCTAACAAACTCAGGAATCAGCAGTGCTGACTGGAACACAGAAAAGTCTAATGCAACAATCAGGGTGGGTCATCCTATCACCTGGGACATCCCTTAACCCTATTCTGGTCATCACCCTCCCAGGAGACACTGCCTTGTGTGCTTTTCAGGATCTTGCACTACCTCAACGGGCAGGTTCTCCAGTCCTTAGATATAACTTTCTACCTTTTAAGTCTGAGAGAGTCCAGAAGGCAAAAATCATTTCTGTTTTTTTTTCCTATGGAATATGACCATGAAATTGGCTGTTCAGTCATGTGTCTCCAAGGAATGGAAACTAGGGTTGGGAAGAAAAGGTGAGTGTCCCAGGAGTTAGCTTTTTACAGGAATTATATACCAGAAGATTCCTCCCATCCCAGTGGATCCAGTTGCTCCCCAGGGGGCCACACCCCCCATCTCAGGCTGTCCCCTGGGAGGAGTGACCCAGGGGATGATATTCACTAGACCCTCCAAGAGACTTGGCAGCTGTGGACACCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCGGCCTCTGTTGCCTAGGCTGGGATGCAGAGGCACGATCATAGCTCACTGCAACTTCAAACTCCTGGGCTCCAGCCATCATCCCACCTCAGCCTCAGGAGTAGCTGCGACTACAGGTGCCAGCTACCAAGCCCAGCTAATTTTATTATTATCATTTATACTAGAGACAAGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTACTAAGATTAAGCAATACCTCTGCCTTAGCCTCCCAAGGTGCTGGAATTACAGGAATGACCCACCGTGTTCAGGAACCCAAAATAATTCTTTCAAGAAAAAGCCATACATTGCTAGCTGAAAACAAGATGACAAACTAGTGAAATATCGCCTGGGGGCCAAACAGTTCATACCGTTGCTGTGAATTAAGGACAGAAGGTTAGCCTGGGGAAGTCTCTGGAAACCAAGAGATTTGCTGCCAGCCCTAGGAGGAGTCAGGATGAGAGAACACAGTGGTGGATTTGAGACCCTGCTAACCACATCTTTGGAAGACTCAGAGGGGAAACGGTCGCCCTTGGAAAGAAAGAAGGGACTGAGGACCACGGAGACCACAGCTCCTCCCACACACAAACCCCACACACGAGTCTGGATTCCACCTGGTGACTCGTCGTCACCGTGCAGCCTCCTCACCGGGTTCACAGGAACTGCGAGCCAGGCTGGAGGCGAGATTGCAGTTAGATATTAACCAGGTGCCCTCAGCCCCGCTGCCTCAAGGGGCCGCCTCCCTGAGAGTCAGGTCACAGCAGACGCTGACCGCCGGCTTCCCCATTGTGCCTGGGGATAAGATCTCTGAGAACTGCTCAAGAGTCGCCGGAGTTCTCAGATCCTGAATCCCAGCAAAGGCTGGCGCCAATCAGGTTGAAGTCCCAACGAGGGAGCCCATTCAGCAGAATGCGGTTTCTTCACCTCCTGTCCCAGGATTCACCCCTCACTTCCCCACCAACCAACGACCCTACACCCAGCCGCCCCCGTCCAGACCCCAAATCCCTCAGGGAGGCGGATCTGGGGTGTCCTCCCCTCTCTGGCTATTAAACTGTTTCTGCTGCAGCCCTCAGCGTCTCGGTGCAGTGAGTCGGGCCGCGAACCTGTGTTGCTTACAGCCGCACAATCTCGGGAGACGCGAGGCTGCGGGCGCGGAGCTGCCCAGAGAGGGCGCCGGGGCCGCAGTCGCCGCGCAGGAACGGGACAGGACGCCCGGGGTCCCGGCTGCATGCCCAGCCCCACCCTGCGGCCGAGGGCCGACCTACGCCAGGGGAACCCGGGTCCGTAGATCCCGGAGTAGCCCTTGGGGAGGCCCGGGTCCAGCCACAGCCGATTACTGCAGGTTCCACCCAGCCCCTCCCCCGCCTCGGGACGCCGGCCCAGCACACGCACCATTTCCCGACTTCCGCGGTGTCCCAGGTCCTCCGGACGGCTCCCGCTGCCAATGCGGGTTCCCGCGGGACACAGGCTGCCACGGAACTTCCAGGTCGTCTCTTAGCTACAGAGCCGAGCACCGAGCGCCCAGCGCAGGTGGGTGGAGAAGACGCCGCGGGCTTTTTCAACCACACACTCCTCTGGGAAGCGCGCCTGATTGACAGTTCCCACGAACCCGCCCCACGGCCCTTACTGGATACGGCGTCAGGTGCCGCCCCTCGTGGACTGATTGACAGAAGAAGCGATCTTGCACAGCTGAGTGGAGCCAGATGAGCAAGTTCCTGACACAGCCCTTGGCAGGGCGGGCTTCCTCCCTGCTCTTTGATCTGAATCCTCCCGAGGGATATTTGCACTTAAGCGGAATTTCCTGCCTGTACTCAATAGGACCTCCTGCTTCTTCCTCCTGTACACTGACTGACAAAACAATTATACTTTTTTTTTTTTTTTTTTTTTTTTTTCCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGTCTTGCTCCGTGGCTCAGGCTAGAGTGCAATGGTGCGAGGCTCACTGCGACCTCCGCCTCCTAGGTGGGTTCAAACAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACACCCGGCTAATTTTTGTATGTTTTAGTAGAGGCCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTTCTGGGATTAGAGACGTGAGCCATCGCGCCTGGCTCCAATTATACTCTTTTTCAATGAAATTTTTCAAAATATTTCAATGTACAATTAAATTATTTTTTACTATAGTCACTCTGTTGTGCTAGCAAATACTAGGTCTTATTCATTCTTTGTAACTATTTTTTATACCTATTAACCATCCCCACTTCCCCCATAACTACTCCTCGCTACTACTTTTCCCAGCCTGTGGTAACCATCCTTCTACACGTTTTTGGTTGTTTGAGATGGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGGGCCATCATGGCTCACTGCAACCTCTACCTCCCAAGCTCAAGCAATCCTCCCACCTCAGCCTCTCAAGTAGCTTCAGATTGTTCACTGTTGGCATATAAAAATGTTACTGATTTTTGTATGTTAATATTGTATCCTGCAACTTTACTGAATTTATTTCTCAGTTCTAATACTTTTTTGGTGGAGTCTTTAGGTATTTCCAGATATAAGATCATATTATATGCAAACCAGGATAATTTGACTTCTTCCTTTCCTTCCCAATATAGATGCCCTTTATTTCTTTTTTTTTTTTTTTTTGGACTTATTGCTCTAGCTGGGACTTCGAGTACTGTGCTGAACAACAGTGGTAAAAGTGGGCATTCTTATTGTGTTCCAGATCTTACAGGAAAGGCTTTCAGTTTTTCCTCATTCATTATCATGCTAGCTGTGGGTCTGCCATATATGGCTTTTATTATGTTAAGGTAGCTGCTTCTATACCCAGTTTTTTTTTAGGGTTTTTATCATGAAGGGATGTTAAATATTATCAAAAGCTTTTTCAGTGCACATTGAAATGATTATATGGTGTTTGCCCTTTATTCTGTTGAAATGATACATCACATTGATTGATTTGCATATATTGAACCATCCTTGCATCCCAGGGATAAAGCCCACTTGGTCATGATGAATGATCTTTTTGGTGTATTGTTAAATTCAGTTTGCTAGTATTGAGTTGAGGATTTTTGCATCAATATTCATCAGTGACACTGGCCTATAGTTTTCTTTTTCTGACATGTCTTTGTCTGGTTTTGGTGTCAAAGTAATATTGGCTTTGTAAAATAAGTTTGGAAGTATTGCCTTCTCCTCTGTTTTGGAATAGTTTGAGTAGGATTGGTATTAGTTCTTTTTTAAATGTTAGTAGAATTCAGCAGTGAAGCCACTGGGTTCTGGGGTTTTCTTTGCTAGCAGACTTTTTATTATGGCTTTGATCTCATTATTTGTTATTGGTCTGTTCAGGTTTTTTATTTCTTCATGGTTCAATGTTGCTATGTTCTATCTGCCTAGGAATTTATCAATTTCTTCTAGGTTTTCCAATTTATTGGCATATAGTTGTTCTTAGTTGCATTAATGATCCTTTGAATTTCTGCAGTATCAACTGTAATGTCTCCTTTTTCATCTCTAATTTTATTTATTTGGGCCTTTCTGTTTTTTTCTTAGTCTACCTCAAGGTTTGTCAGTTTTGTTTGTCTTTTCAAAAAACCAACTTTTTGTTTCATTGTTCTTTTCTATTGTTTCTTCATTTCAAATTCATTTATTTCTACTCTGATTTTTATTATTTCTTTTCTACTAATTTTGGGTTTGGTTTGCTCTTGCTTTTCTAATTCTTTAAAATGCATTCTTAGGTTGTTTATTTGAAGGTTTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTGATGTGAGTTTTACTTCACTCTTGCAGCCTAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACCCACCACCATGTCTGGTTAATTTTTTGTATTTTTAGTAGACAGGGTTCCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAAGCTCAGGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCGCACCCAGCCTGCAGGTCTTCTTCTTTTTTGATGTAGGTGCTTATATCTATAAACTTCCCTCTTAGTACTGCTTTTGCTGTATTCCATAGGTTTTGGTATGTTGCATTTTCATTATCATTTGTTTCAAGCAACTTTACAATTTCCTTCTTAATTTCTCCACTGACCAATTGGTCATTCAGAAGCAGATTATTTAATTTCCATATGTTTGTATGGTTTCCAGAATTCCTCTTGTCATTGATTTCTAGTTTATTCCATGTATTCTATGACACAATTTAAATTATTTCAATTTTTTTGGAGAGTTTTAAGACATGCTTTTTGAACTAACATATGGTCTATCCTTGAGAATGATGCATGTGCTCGGGAAAAATATGTGTATTCTGTAGCTGTTGGATAAAATGTTCTGTAAATATCTATTAGATCCATTTGATCTATAGTGTAGATTAAATCCCATTTAATCTTTCTTTTGTCTGATTTTTCAGTATATATTGAGATAATCTTTGTCGATTTACTGTCTGGAAGATCTGTCCTGTGCTGAAAACGGGGTGTTAAAATCTCCAGCTATTATTGTATTGGTCTCTCTCTCTTTTATTTTTATTTTTATTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCACGCTGGAGCGCAATGTTGCAATCTTGGCTTACTGTAGCCTCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCTCAGTGCCAGTCTTAAAGACAGCAGCCCGAGATCCCAGTATAAAATCCTACTCACTCAATTATCACCTTTGTATTTTCGAATTGGTATGGGGACTTTCCAAAGGTCTGAAACAAGGCTCTCTGTTCTATATCATCTACAATAACTCAGTCCCTGTCAAATTTGGCAGGAATTGCCTAAAAATGTTGTAAAATACATCAAAAGCCTGCAACCACCTGGTAAAACGGATTATGATTATGACATACCATCTCTGATGGTTAATACTGAGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGCCTCTGTGAGGGTGCTGCCAAAAGAGATTAACATTTGAGTCCCTGGGCTGGGGAAGACAGATCCACCATTAATCTGGTGGGCACAATCTAATCAGCTGCCAGCGAATATAAAGCAGGCAGAAAAACATGAAAAGGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATCAGACTCCAAGTTCTTCAGTTTTGGGGCTTGGACTGGCTCTCCTTGCTCCTCAGTTTGCAGACAGCCTATTGTGGGACCTTGTGATTGTCTAAGTTAATATTTAATAAACTCCCATTTATATATATATATATATCCTATTAGTTCTGTCCCTCCAGAGAACCCTGACTAATACACCATCTAAATCCTGGGGGAAAAAAGTTGGAGAGAAAATTTCCTCTAGTAAACTAGGGTACTCAAAAGCACTCAGGTATACTGGGGAATTGAGAAAGCCCCATGCATGCACAGGAAAGAACACATTTTCACAAAACACATGATAAAACCCTAATTTTCAGCTCTGGCTGATCCCTAGGTTTAATTAAACAGAAAATAAATGCTAAAGTAGGATTTTAAACAGCCTGACTGTGTTTTCAAGGAATGCCCCAGTACAGAGCCATCCACAAAGACTGAAAGAGGTAAGGTTTTTGTTTGTTTCATCTTCTTCTTTACTTTTAGCTTCTAACATTCCAGAAATCTGTCAGAACACTGAATGAACACAGAGGAATAGACATCAGTGTCTACAATGAATAGGGACTACAGTCTCTGCAAACACAGTTTGAAAATGTTACTAAACAAATTACAGCCTTCAACAAACATAAATAGCAAAGAGTAAGCATAATTTTGTTTTGATACAAACAAAATTATGAAGAATACAGAGAAACATGAAAATGTGGCTCATTGATGGAAAAAGTTTAATTGACATAGTTCATCTCTGAGAAACCTGACACTGGACTTACTGAATTAAAACTTTAGAGCCGAGCGCGATGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACAAGGTCAAGCGATTGAGATCATCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTATACCCAGCTACTCGGGAGGCTGAGGCAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATTACGCCACTGCACTAATGTCTGGTGACAGAGTTGGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGGACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAACCAAAAAACTTTAAAATAACCGTCTCAAATATGTTCAACAAGGTAAAAGCAATGATGAATAAAGAACTAAAAGAAAACCAGAAAACAGATGTAGGGATAAAATAATATTAATTAAAAAGTAGAGGCCTGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAAGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTTCTTCTCAAAAAAAATAAAATTAAATTAAAAAAGTAGATATTGAGCCATATAGCATTTATGCAGGTGCAAGATACGACAACTAAAATGAAAACATCACTACAGGTGTTCAACAGTTGTGACTAACTAAAGAAAAACATCTAAAATGAAGACAAAACAACTAAAATTACCCAGTCTGAGAGAGGAAAAAAGGAACAAGGATGAGAGAATGTGTGACTGGTATACCTGCCTTGCCAGTAATGTCAAAAGAAGTTCATCAGAGTGAAGAAAAAGGATACAAGTTAGAAATTTGGGCTGGCTCAGTGGCTCATGCCTATAATTCCGGCACTTTGGAAGACCCAAATGGTAGGATTGCTGGAGCCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAAACTCCATCTCTATAAAAAATAAAAAATTAGCCAGGCATGGTGGTGCACATCTGTGATACAGGCTACTTGGAAGGCTAAGACAGGAGGTTAACTTCAGCCCAGGAGATGGAGGCTGCAGTTAGCTATATTCCTGTCACTGCACTCCAGCCTGAGTAACAAAGCAAGACCCTATCTAAAAAAAAAAAGAGAGAGAGAGAGAAAAAAAAAGAACTAGAACAAATTCTGGTCACACACACACAAACATATATACACAAATACATACAAACATACATATGCAAACTACATAAAATATATGAAAAGAATTAAATGAAGGCACAAGAAAACTCTTTCCTTTTCTAGTTCCTATCTGATGTAATAGATGTTTGTTCAAACTAATAATATCAACAATGTATTGGGTAGTTTAGCTTATAATAGGGCCAATGAATGACAGTGATGTTATCTGGGATACGAGGGAGGAATTTGGAACACTCTGTTATACAGGCACTATACCAGAAGCCAGTATGATGCTTTGTAAAACTAAAGGTCCATTCATTGTGAATGGAATACTCAAACTCTAGGGAATTTACTGGTAAAATTTAAGAAACAATAGCTAGTTGGGTAGCTCATGTGTGTAATCCCAGGACCTTTAGGAGGCCAAGGTGGGAGGATTACTTGAGCCCAGAAGTTCAAGACCAGCATCAGCAACATAGTGAAACCCTGTCTCTATAAAAATTTTAAAAATATCTTGGGCATGGTGGCACAAACTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGTGGGATCTTGAGCCCAGGAGTTTGAGATCACAGTCAGCTATGATTGTGCCACTGCACTCCAGCATGTATGAGAGACCCTGTCTCAAAAACAAAAAAGATTCTGTCTCAAAAGAAAAGAAAAGAAAAGAAAATGAAACAAGTAGTATAGTATAATAAGTCTACTTACTCTACTTCCATTTTCATAAAATTTCATTTCACATAGTAATAGATTTACTATACTAATAGAAGAAAGAAAGAAAATGGAATCATATTAAATGCTCAGTTGGAAGGAAAGGAGGCAGAAAAAAAGAAGTTGAAAAAACAGACAAACATAACACAATTACATATGTACGTAGTAATCCAACTATATCAATTGCCATTTAAACATGTATTATCTATAGATACCAATATAAAACAAAGATTGATAGAGTAGAAGGAAAAAACAAGACCCATGAATGTATAAAGAAAACTATTTTAAATAGAAAGACACAGATACATTAAATACAATGGTATAAAGAAATATATGCCATTTTAGCCCTAATCAAAAGGAATATGGAACAGGCTACATTAGACTCAGATAAATCAGGTTGTAGATCAAGGAAAATTACAAGAGATAGAGATATTTCATAATGATAAAGTGCTCAATCCTAGAGACATAATAATCCTTGATATGTATGTCCAGAAAATAGAGCATCAAAATGCATAAGGTGGCTGGGTGTGGTGGCTCACGCCTGTCATCCCAGCACTATGGAAGGCCGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGTGTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGCACTCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAATTGTGAAACTCCACCTCAAGAAAAAAAAAAAATGCATAAGGCAGCAGTCCCCAACCTTTTTGGCGCCAGGGACTGGTTTTGTGGAAGACAATTTTCCCATGGAATTGCGCTGTAGGGGAATGGTTTCTGATGAAACTGTTCCACCTCACATCATCAGGCATTAGATTCTCATAAGGAACGCACAACCTAGATCCCCTTGCATGTGCAGTTCACAACAGGGTTCGCGCTCCTATGAGAATCTAATACCGCCACTGGTTTGACAGCATGTGCAGGCGGTAATGCTTACTGCCTGCCGCTCATCTCCTGCTGTGCCACCCGGTTCCTAACCAGCTACAGACCAGTACTGGTCCACAGCCTGGAGGCTGGCAACTCCTGGCATACGGCATAAATTTATAAAACTGCAAGGCAAATACACAAATCCATAATTATAGTTGAAGGAGAACAATTCCCCTCTATCAATAATTGATCAATTGAGTAGAAAAATCACTAAGGACATAGCTGAACTCAACAGCATCATTAATCAACTGGATTTAATTCATATGTATTTATAGAATACTTCACTCAACACCAGAGTACACATTCTTCTCCAAACTACATAACATATTCACCAGGATGGACTATATTCTGAGCCATAAAACCTACCTTAACAAATTTAAAATAGATATTCTGTAAAGTATGCAATCTAACCATATTAGAATTAATCTAGAAACCAGTAACAGAAACACAGTTGAAAATCTTCCAGAAAGTCGACATTTGAACAACAAACATCCAAAATACATGAAAGACAAACCGAACTGTCAAGAGAAATTTAAATATTCTGAAGTTGATGAGAAAACTATATCTTAGGGCCAGGCACAGTGGCTCACGCCCATAATCCCAGCACTTTAGAAGGCCAAGGTGGGTGAATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGTGCACACCTGTAGTCCTAGATACTCGGGAAGCTGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAAGTTGCAGTGAGCTGAAATCATGCTACTGCACTCCACCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAACAAACAAACAAATATATATATATACATACATACATACATACATACATATACACATACATATATATACATATGTGTCTGTGTATATATCAATGTCTGTGTGCATATATATATATATATATATATATATATATATATATATATATATCTTAGCCAAAAACACTTTTCATAGAGATGAGATCTATATTCCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTACCACCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAACCATAATGCCCAGCCTTAGCGAAATGTTTGAAATGTAGCAAAGGCAGTGTTTACAGGGAAATTCAAAGAATTGAATGCAAACTCTGGAAAATAAAGATCTAAAATCAATGCTCCATTTTGAGAAACTAAAGTTCCATTTTGAGAAACTAAAGAAAGAACTCCAAGATAAATCACTCAGAGGAAAATTACAATGAGAATATATTAATGAAATTGCAAACAAGATATCAATTAAAAACATCAATAAAATCAAGAGCTAGTTCTTTAAAAAGACCAAGAACATTGCTAAACCCACAGCCAAGCCAACTCAGAAAAAAAAAGGGGGCCATCACTACTATTCCTATGCACATTAAAGTGACCATAAGGGACTATTCAGAGCAATTGCATGTCTACAGATTTGTTTAATTACATGAATGGGCCAATTCCCTGAAAGACAAAATCTACCAAAACTCACAAAATTAGACCCATGTAATACGAACGGGCATAATCTATTTAAAAATTGGAATCACTAAATAACAAATGTCCCAAGAAAAAGGAACCAGACCAGGATGGTTTCACTGGTGAACTCTGGCAAACACTTATGGAAGAAATGACACCAATTTTCTACAATCTCTTCTGAAAAAGAGAAGCAGAGAGAAATCATGTTATAAGGCCAACATTGCCCTTGCACTGCAACTAGACAGATGATACAGACATATCTCCGCCATGTAAGAATATAAAAGGAAGACTGCTATCTGCAAACCAAGAAGCAGGCCCTTACTAGAGACTTCATCTGCTTGAACTTGGAAACCCAGCCTCTACATCTTTGAGAAATGTTTGTTGTTTATGGTATGCAGCCTGTGGTAATCTGTTATAATAGCTTGAGGTGACCACACATCAAGGCTTTGAAGTCTATAGTAATGAGGAGAGTATGGTATTAACCACAATGACTAAAAGAGAAACCAATGGAAAATAGCCAATTCTAAAACAAGATCACCAATTTAAGACACAAGAACCTATGACATGCAGGTATTAGCAGGCAACGATATAAATGGGAGACACTTCAACACAAAAGACAGGGACAAATGGTTATCTTCAAGAGAAAAATCAATTTTCTGCTCATCATCTTCACATACAATAATCAACTCACTATACACCTACCTGTTTTGTGAATTCTTATTCACTTGATATTGCCCCAGTTTCCATTTTGGTTTTTCGTTTTTGTTTTTTTTGAGGCAGACTCTCACTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGATGCGCACCACCACACCCCGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTTACCATGTTGGTCAGGCTGGTATCGAACTCCTGGTCTCAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTAAGATTACAGGCATGAGCCACTGTGCCCAGCCCAGCTTCCATTTTGAATTTGCTTTGAACACTCTCCAAGCAGAAAATGGGTTTGTAATCTCAGATACACTTTCTTGTTCTCTACCTCCTCCTCCTTCCTCAATGTGGTTGATCCAGATATCTCCCTTACGTAACCATCTTTCTGTCACCATGTCCCTATGGGACAGCTAAATACAACTTGCCTGACTCACCCCCCACAGCCCACATGGACTGCAGACATGTGTAGCAGTGACCACCTCTCAGTCAAAGCTGGACTCTGGGGAACTTGCGCATACTTCCTTTTAAACACACCAATTAGAACTCCCCAAGAGAAGCCTGGTTGGGTAACCCCTGGGCCCCAATAAAGGCTTCAGCTCATGAGTCCCCCTCCCTCTCTTGTTCCGCACATACTGGTCAAGTGTCCATGTAACTCAAGACCGCTAACTCTTGGTCTTCAAGGCATGCTAATCTCTTCTGTCTAGGATGTCTATGTAAATGCACTGTTTCTATTATTTCCTGTATTTTGTTGAGTTGCCTTTTCTATGTCGCACCTGACCAACACATCTGAACCTAAGTTCTATCCAGATCAAAGCTCTCTTTGTAGGATTGTCTTGGCTGCGGCTGTCTTGGTAGAAATAAAATAAAAATTTGTCAGAAAAAAAAAAAACCCACGAAATGTCAGCAAAAACAAGTGTTCTTGAAGAGGAACACTTGGTCACTAGTCTGACATTTAGGCATTATTAGGCCCCGACCAGGAAAAAGAAAAACCTAAAGGGTCACATTTGGCTGGCTTCCAAATTAATCTACCTGGGGGAGGTCTTCTGATCCACGGCCCACATCCTGTCCCTGAGTAAACAATCTTATCCTGGGCTGGGGGTGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGCCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATAGAAAATTAGCCAGGCATGGTGGTGCGTGCCTGCCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTGATGGTGAGCGGAGGCTATGGTGAGCCGAGATCACACCATTGCACTGCAGCATGGGCCATAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGAATCTTATCCTGAGTCCCTCAAATCATATTGTGAGTTCTTCAAACTGCTGATGCTCTCATTAACATGTAACCTACTGACATCAAAAAGGATCCTGATTCGTTTCTAAATCATGAAGTTTTCCTGATTGTCTTCCATGTAGAACCTTTTAGCCTGTATGTTGTCATGTGTAACCAATGTTTATAACCTCTGAATTGTACCCTCCAATGAAAAGGACAATTCACCAATGAGGAGTCCCCCTCCCTTCTCCTAAAGGTTCTTAGGAAAGCGTCTGATTTGTAATGGAGGTTGGAACACATCCAAATTTGCTGGTGTGTCTTCCTGGGTCAATCCTCAAATTTGACCAGTAAACCTACATAAAATGACTTCTACCTCAATAGCCTTAATTTAGGTCAACAGAAGGCTCTCAGAAAGGCACAATTTCAGAAAATGAAAGCCCACAAGGGAAAAATGTTCTGCACCAATGCTAATCAGTAAAAACCAATATATACTCATATGGAGATAAATAAAAGATAAGTCTTTGTAAGGAATAAACACACACATGCGTACACGGTCAGACAGGTAATGTACACATGCCATTAGAATTTCTTAGAAAACTTAAATTCATCCATAATCTACGACCAGTAGTGGGAATATTGAGGAGAGAAAGTTACCCCCTGGGGAAGGCTCTGGAAACCAAGGGACTTACTGTGACCCCTATAAAGAGTTAGGTTGAGGAGACAGGACGGTGGATTAGACAGGATGGTGGACTTCAGACTCTGCTGTCCAGGGGAAGGGTCCGCAGACCGGGTAGTCGCCCGTAGGGAAGTCTGGGTCCTGCCCCAGCTGGTAACAGCTGGTTCCAACCAACCCCTCCTCCCGTCTCCGGACCCCTAGGCCGTGCACACGCACCATTTCCTGGCTTCCACGGTGTCCCGGGGTCTTCTCTACGGCTCCTGCGGCCTGTGCGGGTCCCAGTGTGCCAGAGGCTGCCACAGAACTTTCAGGGCGTCTCTTAGCAACAGAGCTGGGAACCAAGCGCAAGGAGTGGAGAAGATGCCCTGGGCTCTTGGAACCTCACAGCCTCCTCGCGGCAGCTCCCTTATTCACAGTTCTCACGACCCCACCCCACGTCCCTGATTGAGTAGTGTACCATGTCCTGCCCCCTGGGGAACTCAGTGACAGAAGAAGGTATCTCTTGGTGCTGAGTGGAGGCAGAAAAACAGGTTCCAGACCCAGACCCTCACAGAGCGATCTTCTTGCCTAGTGGTTCCTAGTGCTGTGACCTTATCCCGCCCCTGGGGACATTTGCATGTGGGCATAATTTCCCACCTGTACTCAATGAGCTCTTACTACCTCTTCCCCTGGACAGATCACAAGTCTGTGCTGGGAATCCCAGACCACTGTCCAGTGGAGCCATCCCCTAGCCTCAGAGCAGGAGGGGAGCCCAAGCCACACAGGCCACCCTGCAGCAGGAGGGAAGGCCTGATATCCTCCAGGGATCAGGAATTTCAGATGGGGCTGCTGGCGACATGGCCAAGCCTTTCTCCCACCTTATCTCTCAATCTACTCATTTTCAGCTCATAAAAGCACATCAACAATGAAATAAAACTGTTACATGCATGGAAAAACTGGAATTATAAGGCAACAGTCTTCTATAAAGGAATCAAAAGAGAAGAAAGGAAGAAACATGAACTAGCTCAAAGCAGCAGCCTGCTGAACCCACAGTTCACAAGCAAACTCCCTTTCAGGAGGTCAAACAGATTCCCAAGCTTAGGAGCCAAACTCTGACTCCTGAAACAATCTAGTGATGAGGCAGGGACATGGAAGCATTTAACTTTTGGCACTCAACTCGCCCTCCTATCCTGCTTGCACACTGTGGAAACACTCCTTTCTTCAACACTTTAAATGTTAACGAATTAAACGCTCCAATCAAAACCTGAAACATTAGACTTTGAATCTGAAAACATGAGTTTTGCCATGTTTTTAAGGACCAGACATAAAAGCATTGTGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTACCTAGCACTACGGGAGGCTGAGGCGGGCGGATCAGCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTTCCCGGGAGGCTGAGGCAGGAGAATCGCTGGAATCCAGGAGGTGGAGGCTGAAGTGAGCTGAGACTGTGCCATTGCACTCCAGCCTGGTGACAAAGCGAGACTCCACCTCAAAAAAGAAAAAGCATCATCAACTGAAAGGTGGAATCCATTGCTAAAAGAAAGGAACCAAACATGAGGTGTCATCAGATTAAATGAAATCTTCTATTTTTAAAAACTGTAGCTTTTCCTGACAGGGAAAATGGGCATGTTTGGCAAATAAGAAATAAATGATGTCTGATTATAACTCATCAACAAATAATTTTCATGTCTTAAAAAATGACATACACACACACAGTCTATTATCACAAGATTTTGTTCCCTCCTTGAAGGATAAACTACTGCTCTGCAAGATGCTCCACCCTTCACTCCTCACATTAACTGCTGCTAGCATATTTATTTGTTCCAAAACAGGTATAAAAAGAGGGTTCAGTGTGTCAAACTACATGATTGTTAGAGGTTTATGTACAGATTTTGTATATTTTTACAAACTGCACCAGTTAAGTAGTTGATTTATGTTGTTTTTGTTTTTTGTTTGTTTTTAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCAATTTCGGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCTTCAGTCTCCCAGGTAGCTGGGATTACAGGCATGCATCACCACTCCCGGCTAATTGTTTTTTGTTTTTAGTAAAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAGCCTACTGTGTTGATTCTTACAAAAGCTCTAGTACAAAAATAAATGTTCACGTTACCATGATGAAAAACTCAGGAATGGTGACTCCTCGATTCCTCTGAAAAACAATTTTTTTTAACCCTAAGAGAAGCTAGGAAGTCTACAGTAAATGGCTGGAGGTGATCCCTGAGAGAACACATTTTAGTGGAAAAGGTCACTCATGGAAAATACCAAAATTTATATGTAGCAGTTTAAATATACTACAGGAAACACTGCGATTACATTCTTCAGTTACCTCTATGACAGCATGATGGTTTTTTTTTAGGTAGGGTGTTTCTTTTTGGTTTTCTTTTAAAAAAGAAAACTGTAGGCTGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCATATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGTCATGGTGGCGGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACTATAAATCTTTCCCCACAACTGTAAATCTTTCTCATTCATAGAGATATCTTCCTAAATGTGCTACTAAACTTATATTTATATTTTCACCATTTCAGTGTGACTTCATTTTAATGCATGCTGTTATAAGGGTCTCAGTTGCTCTTCTCTGCAGGTCAATATCTGTTGCGGGAAGTCAGGGACACCAAATGGAGGGACCGGCTGGAACCGTGACAGAAGAACATAAATTATGAAGATTTCATGGACATTTATCAGTTCCCAAAATTAATACTTTTATAATTTCTTACGGCTGTCTTCACTGCAATGTCTGAACATAAATTGTGAAGATTTCGTGGACATTTATCAGTTCCCAAATGATATTTTTATAATTTCTTATGCCTGTCTTTAATCTCTTAGTCCCGTTATCTTCGTAAGCTGAGAATGTACATCACCTCAGGATCACTATTGTACAAATTGATTATAAAACATGAAATCAGTGCACCTTAAAAAAGAACAGAATAACAGCAATTTTCAAGGAACAAGGGAAGATAACCATATGGTCTGACTGCCTGTGGGGTCGGGCAGAATAGAGCCATATTTTTCTTCTTGCAGGGAGCCTATAAACGGATGTGTGAGTAGGAGAAATATCACTGAATTATTTTCCCAGCAAGGAATACCCTGGGGAAGGAATGCTTTCCTGGGGGGTGGTCTATAAACAGCAACTCTGGGAGTGTCTGTCTTACGTGGTTGAGATAAAGACTGAAATACACACTGGTCTCCTACAGTACCCTCAGGCTTACTAGGATTGAGAAATTCCAGCCTGGTAAATTTTGGTCAGACCGGTTCTCTGCTCTTGAACCCTGTTTCCTGTTAAGATGTTTATCAAGACAATATGTGCACAGCGGGACATAGACCCTCATCAGTAATTCTAATTTTGCCTTTGCCTTGTGATCTTTATCACCCTTTGGAGCATGTGATCTTTGTGACTTACTCCCTGTTCACACATCCCCTCCCCTTTTAAAATCCCTAATAAAAACTTGCTGGTTTTGTGGCTCAGGGTCGTCATCACGGTCCTACCAATATGTGATGTCACCCGTGGAGGCCCAGCTGTAAAATTCCTCTCTTCGTACTCTTTCTCTTTATTTCTCAGACTGGCCAACACTTAAGGAAAATAGAAAAGAACCTACACTGAAATATTGGGGGCTGGCTCCCCCGATAAATATCCAATTTTCCTAGCACCCTGTTGAAAAGACTTTCCCCATTCATGTATCTTGGCCTATTTGCTGAAAATCTATTAACGGTCAATGAAGGGTATCTTTATCTGTTTCTGCTGATATAATGAAATACTATAGATGGGGTAACTTATAAGGAACAGAAATTGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGTCATGGTGGCGCATACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGTATGCAGTGAGCCAACATCACGCCATTACACTCCGGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAACAGAAATTTATTTTTCACAGTCCTAGATACTGGGAATTCCAAGATAAAGGTACTAGCATCGGGTGAGGGCCTTCCTCTTGGATCTTCTGGAGGGAAGAAATGCTTGCATCCTCACAGGGCAGAAGACAGAAGGGCAAGAGAGGGCAAACCCCATCCATCAAGCCCTTGTAGTGGCATTAGTTTATTCATGAGGGCTTTGCCAAAAGGCCAAAGGCCTGCCTCCCAAAACTGTTTCACTGGGGATTAAATTCTAACCTATGAATTTTGCAGGGGAAATAAGCATTCAAACCATGGCAAAGGGGATGATTTCTGGACTCTCAGTTCTGTCTTACTGATCTGTGTATCAGACATTTTTCCAGTAGGTCTGGCTACTATAGTCCTTGACCTGATGATGGAGAGCTCCACCCCATTCCACATGATTGTCATGCACGGATAGAAATGGTCCTAAAGCCTCCAGAAGATCTCCTTGACATACTCTTAGACAACATAGACTTACTTCTATTTTGGGATAGCTCCTGTAAATGAATTGTTAAGGAAAACATAATAATGGGTTATGCAATATTTTCTTTCTTTGTTTTTTGAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATATTGGCTCACGCAGCCTCTGTCCCCCTACTCAAGCAATCCTCCCACTTCAGGTTTCCGAGTAATTGGGATGACAGGCATGCACCACCACACTCAGCTAATTTTTTAACTTTTTATAACAACAAGGTCTCACTCTATTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATTCTCCTACCTTGATATCCCAAAGTGTTGGGATTACAGGCATGAGCCATCATGCCTGGCCTAGGCAATATTTTCTCTACATGAAACACTTGAGGCATACTCTTCACTCACTGTAAAATCAGTATGAGCCTAGAGCTCATAGCTCTTACTACATCTTGCACGCTGACAAACAGGAAAACTGCCTCTACTGACACAGACTGCAGATATGCTTTTGGAATTCCTTATGCAACTGGCACAATTTGAAAAATTTGTGGATTCACAACTTGTTCTGGTATACCCACTGCCGATAGACACATAACTGGGCTACTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTGTGTTGCTGGGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCACCACTATGATCAGCTAATTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACCACGCCCGGCCCATAACTGGTGAACTATTACAGATGATTTGCCTCCCTATTAAAATGGCCACTGTTCACTGTCTAGTCCATACTACGGAGATTTATACTATATCTCTAGGGAATGATAGGGCTCAAAAGATTGCTAAATAGGAAGCCAAAAATGGTACCTTGTTCTTTCCCAATCCAGTTTGCAAAACTGCCTTTACCCGTGACTGATATTATCAAGTAAATGTCCCATAATCTAAGAAGATCTATAGATACAAAAGGGAAAAATAGTATTGTAGAGATTATACATTAGGCCAGTCACACTCCCTGTGCTATTAATACTTTCCTTCAATCTTTTCCCTTACACAAATCTCTCACCAAGTTGGACATAGAGGCAGATGGGAAAGAGTTAAGAAAACGAAAGACAACTGACTGGCCTGGCATCTACAAAATTACTGACCCACTTATTTCTCAGTGCATTACTTGTAACCCACCCAATTTCTGGATGAAGCTCACAAATTTCACAGAATCCTCCAACACCCACACTGACCCTCCCAGCCCTCCAAATGGATGGTTTATCTACAACTGTAGTCAATTCTCATTGTTTAGTGATTGTCTCCATGTTTAGTGGATGGGCGCAATGCTATACAGCTAGACATGATGATGCCATCAGTGGTAAATAATTAATCATTGAAATTATTCCTGGTTTTAGTATTCTTTTGTGGACAGAACAAAACCAATGAGGTAATTTTATATGTGCTGCTGAAGCGAGCACAACCAAGGAGGTAATTTTATAGCTGATATAAACCACATTCTTGCAAAAACTACGGAAGACTTATTAAAATACATACCATCCTTAACCATCAGAGCAAAGAGAATATAAAAATCTAAACATAAAAAGGACTTTAGAGAAATAGCTGTCAAAACACTGGACTTCAATGGCCAGAAGCATTAGCCCTGGCCCTTATAAAAATCTGAAATACTACCAACAGTAGACATGGATTATCTCCTTTTCTGTAGTTTTTGGGTTTTGGTTGCACTGTAGCTATTGGTATATCTAAACTTTACATTCCTGGATTGAGTAAATATTCTTGGGAATGAAGTGAACAATATGATGCTATGACTAGCTACATGTAAGAACTAACCAGTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCAAAACTAGTCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAGTTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGGAGGATGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCGACACAGTAAGACTCCATCAAAAAAAAAAAAAAAAAAAAACTAACTAGTATATTTGGAGCATGTCATCAACAGGTTAAAAAAAATGCCATCACTTTTGACCAAAAGATAAGGTATTTCCAGGTGTGGTGGCTCAGGCCTGTACTCCCAGCCATTTGGGAGGCCAAGGTGGGAGGATAACTTCAGTCCAGGGGTTCGAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCTGTAAAAAAAAAAAAAAAAATTAGCTGAATGTGGAGATATGTCTCAGTAGACCTAGTTACTCAGGAGACAGAGGCAGGAGCATCACATGATCCCAGAGTTTCAAGGCTGCAAGGGGCTGATCATGCCAGTGCACTGCAGCCTGGGCAACAGACTGAGACCTTGTCTATAAAAAAATAAAAATAGGTCAGGCACAGCGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGCTGGATCATTCAAGGTTGAGAGTTCGAGACCAGCCTGGCCAATATTAAACCCCATCTCTACTTAAAAATACAAATATTAGCTGGGCATGGTGGTGGACGCCTATAATCCCAGCTACTCGGGAGTCTGAGACATGAGAACCACTTGAACCTGGGAAGCAGAGGTTGAGTGAGCCGAGATTGCACCACTCCTCTCCAGCCTGAGTGACAGAGTGAAACTGTGTCTTCGGAAAACAACAACAACAAAAGAATATTATTCAGGCATAAAAAAGCAATGAATTACTGACATATGCTACCACATGGAGGGAACCTGAAAACATGCTAAGTGAAATAAGCCAGACACAGAAGGACAAATATTGTATGCTCCACTTATTTATTTTTTTGATTCGTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCATGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGTTAAGTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCATGCCGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCTAGATGCTCCACTTAGTCAAATTCACAGAGCAAGAGAGTAGACTAGACGTCATCAGGGATTGAGTGTAGAGAAGGGAAGTTGTTTTTTAATGGGTACTGAGTTTCTGTGTGGAGCGATGAAAATCTAGAGATAATTAGCTGTAATGGCTATAACACATTGTAAATGTATTTAATGCTCCTGAATGACACACTTAAAAATGATTAAAGTGGAAATTTTATGTTAGTACATGTTACTTCAAGACAATTTATGAACAAAAGAAAAGACACAATTCAAGCTACTATATATGAACACAACAATATCTAGAAGCACTGGATGGAGGTTGGTGTGGTGGCACATGCCTCTAGTCCCAGCTACTCAGAGCCTGAGGTGGAAGGATCGCTTGAACTCAGGAATTCAAGCCCAACAGGGGCAACTAGTAAGACCCTGTCTCTTAAAAAATAATAATAATGATAATAATAATAATAATAATGCACTGAATGGACAAAACAGCAGAGGAGATATTGCTGAAATAAAGATAAGTGAACCTCAAAAACTAGGAGTATAACCGATTTAAAATATAGCACTCAGACAAAAAAATGAACAGAACCTCAGTGAGCTGTGTAATGGGACAATTGTACAAGGACTCCTTGAAAGACAGGAGTAAAAACAGAACAAACAAAAAATATTTCCATAAATATTTCAGGCCGAGCACAATGGCTCAGGGGTTTATTGAGCTTTTTGGATCTCTAGGTTTATAGTTTTCATCTAATTTGGAAAATATTTGCTGTAATCCCAGCACTTTAAAAGGCCGAGACAGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCATTTGAACCTGGGAGGCGGAGGTTTCAGTGAGACAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAACAAAACAAAACAAAACAACAATAACAAAACTAGCAGTAACAATATGTTTTACACAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAAAATTAAAAATTAGCCAGATTGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCTTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCAGAGCTTGCATTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAAAAAAAAAAAAAAATTAGCCAGGCATGGAAGCTCACACCAGTGGTCCCATCTACTCAGGAGGCTGAGGTGGAAGGATCACTTGAGCCTTGGAGGACGAGGCTGCACTGAGCCATATTCATGCCACAGCACTCCAGCCTGGGTAACAGAGTGAGACCCTGTCTCAAAACAAACAAACATTTGTCGCATATTTTCCAAAACAGATAAAAATTATGAACCTACAGATGCAAAATGCTCAACAAACCACAGGCACAATATATATCAACAAATCTACACCAAGACACAGCATCAAATTGCTGAAAACCAGGTATAATAAAAAATTCTTTAAAGAAACCAGAGAAAATAGACACCTTAACAACAGACAACCAAATGTAACATTGATTACATACTTATTATCAGAAACAATGCAAACAGGAAGACAATGGAGTAACATCCTTAAAGAACTAAAAGAACAAGGATATCAACAAAGAATCTTATATTGAGCAAATAATATCTTTCCAAATGAATGGAAAATACTTTATTTAGTCATAATAAATGTGTTTGCAATCAGCATATTGGCTCATTGAGAAAGGTACAGCCGGGTGTGGTGGCTCACGCCTGTAACCTGAGCATTTTGATAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGATTTCAAGATCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTATAAACACAAAAATTAGCTAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGGAGGATGCAGTGAGCCAAGATCGTGTCACTGCACTCCAGCCTCGGCGACAGAGTGAGATTCCGTCTCAAAAAAATAAAGGTCCAGCTGGGTGCAGTGGCTCATGCCTGTAATTGCGACACTTTGTGACGCCGAGGCGGGAGAATTGCTTGAGTCCAGAAGTTCAAGACCAGCTTGAGCAACACGGCAAGACTCCATCTCTACAAAAAAATTAAAATGGCATGGTAGTATGTGCCCGTCCAGATCACTGAATCCGTAAAAAAAGAAAAACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGTCGAAGCAGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACAAACATGGTAAGATCCCATCTCTACTAAACATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGACGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGAAAGCAGTGAGCCACGAGATCATGCCATTGTACTCCAGCCTGGGTGAGACAATGAGATTCCATCTCAAAAACAAAGGAAAACAAAACAAAAACCAAACAAACAAAAACCAAACTGGCTGTCTTACTACTGGGGTGGCTGAGTAAGTCCTCTAAACTACTATTCCTATCAAATGGTCCTTGGACACACCCTTAGAGTTTTCTCTTCCCAAGATGATTTTTCATCTTGGTAATATGGATAGACTGGGAATTTTCCAAATCTTTTTGTTTCAGTTCCATCTTAATAATTCCATCTCCAGTCAAGTCTTTCCTCACATTAGTATATGCAGTCAAGAGGAACCAAGCTGCCTTTTTCAACACTTCTTAGAAATGTTGTCAACTCAATATCCAATTTCATCACTTCCTAGTTCTACTTTCCACAAAACTAGCACAGGACCACGATACACAAAGTTCTCTGCCACTTTATAAGAAGAAATCAACTTTTCTCCATTGTGTAATAACATTAACCTCAATTCTCTTTTTACATATATTTTAGTTTGTTTCAGAAACAGGGTCTCACTCTCTCTCCAGCCCAGGCTGGAGTGCAGTAGCATGACCTAGCTTACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCTGGTGACCTCAGCCTCCCTGGTAGCTATGACTACAGGCATATACCACCAAGCCTAGCTAAATTTTCCTTTTTTCTTTTTTTGTAAGGATGAGGTCTCACCATGTTGCCCAGACTGGTCTTGAACTCCAGGCCTCGGTTGGGCATGGTGGCACACACCTGAAGTCCCAGCTACTTGGGAGGCCTGAGGCAGGAGGATCTGTTGAGCTTAGGAGTCGGAGGTGGCAATGAGCTATAATCACGCCACTGCACTCCAGCCTGGGCAACAAATTGAGATCCCCATTTCCAGGAAGGAAGGGAAAGGAGAGGAGGGGAGGGGAGGAAGAAGAGAAGAGAAGGGAAGGGAAAGGGGAAGGAGAAGGGGAAGGGGAAAAGGAAGAGGAAGGGGAAGGGGGAAAATCCAAGCCTCAAGCGATCCTCCCATCTTGGCCATTCAAAGTACTGCCATAACAGGCATGAGCGACCATGCACATTCCACTTTCATTTTTGAGGATCCACTCTCATAATCTAACCTAATCCTTATCATATCTCAAAGAAACCATTGCCTAATACTGCCACATCAGGGAAGTGGAAAAATAAATAAAATTTTCTACAAACATTTATTCCATAACAAGTGATTAGTAGCTTTTTATCATTTTCTAAATACTCTTCATGTTAATCCCTTATCAGATATATAATTTGGAAATGGTTTCTCCCATTCTATGGGTTACCCATTTACTCTGTTAATATTGCCTTTTGATGCCAAAGGTCCACAAAATCCAAATTATTCTTTCCCTTGTGGGTCATGCTTTTGGTGCCAAATCTAGGAAATCATTGCCAAATTCACTGTAATACAGCTTTTGCCATGTATTTTCATCTAACAGTTATACAGCTAAGATGGACACTCACATATTTCGTTCATTTTAACTTCTGTACATGTTAGGTATGGGTACAACGTCATCCTGTTGCATGTGGATGTGCATTGCCCAACAGCATCATTCTACAGAAACATTAAGCTATCCCCCATTGAATAGTCACAGCAGACTTTTCAGTAATTGTTAGACTTTATGTAAATTATTAGACTTTATTAGACTTTCTGTGTTATCTTGTTGCATTGTCTATTTCTGCGTTATTACGCTAGTACCAAACAGTTTTTATTAGTATGGATTTGTAATAAGTTTTGAAATCAGGAAGTGTGAGTTCACCAACTTTGTTCTGGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCTCAGGCTCAAGTGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACGCGCCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGATGCGATTTCACCATGTTGGTCAGGCTAGTCTCCAACTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGCGGTGGGATTACAGATGTGAGCCACCACATCTGGCCATTGTTCTGGCTTTTGAAGACTGTTTTGTTCATTCAGAGACCCTTGAGATGTCATATATAAAAAAATAAAAAATGTTAAAAAATGGCTCCTAAGAAGGAATCAAGTGGTCAAACCTATCCCTAAAAGGCTAGCAGGGGACAAAAAGTGGTATCTCTCAATAAGAAAATACAAACCTAAGATGTTTTGAAAAGTGGTGTATCACCTTGGAAAGTTCGTCATAAGGTAAGAACAAACCAAGAAATCACACACTAAAGCAGAGAGAAGCTGAAGTTCCTCAAAGTGTTAGAGCTGCCCCTACAGTGGCAAAAATGATCCCTCTAGTTCATGATAAACTAAGGATAAGCATTAAGTGTGTGGCTAGAGGACACGTCACAGAACCACAGCCCTACTGATGGTAACATCATACTTGAAAAAACACTTAGCCAGGCCAAGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGATCAGCCTGACCAACATGGTGAAACCCAGTCTCTACTCAAAAGACAGCTGGGTGTGGTGGCGCGCACATGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGGGGTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAGCAACACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAGAAGGAAAGAAAGAAAAGAAAACAAAAAACACTTAGCCTCTGTAAGCATCACTGTGAGGGGGCTGAGGAGAGCAAGAGGAAGGAGTTTGAAGCCAGTAAGTTCTGGCTAGGCTAACTATGCAACACAGTGCAGCCCAAGAACTTGAAGACCACAGGAGAATTGGCATCGGCTGATGCCAGGGAAACAACAGCATTCCTAGAAGAGCTCATAAAACAGAAAAAAGACACTACCTTCCAGAGTAAATCTTCTATTGTCATGAATCAGGCATGTTCTAGAAGATGCCCAATGGTACCTTCATACATGAGTGCAGGTACTGGGGTTCAAGGCCTGGAAAGACCACCTTTTTCTGGTGCTGTCAGGCCATGCATTAGTTCATGAGAACAAGCGAGGCTTCGTCTACTGAGCAATCACCAGGTTCTTTAGGACAAAAGCAAAACTTGCTGGCCTGTGTCCTGGCAAGAACATAAGAAGGCTTTCTTCTAGCAATGCTTCACTCCTGATGTGATGGAATACCTCAAAGAGAAGGGACTGCCACTCAAGGTCTTCCTCAGAATTGACAACACTCCAGGCCATCTCTCCAATCTCTGTTTTGCCTAAAAGAACATGCAAGTGATATTTCTGCCTCCTAAAACTACATCACTGCTGCGTCACTAGATCAAGGCATCAAGTGCATTCAAGTGACTTACATCCTTGGGTGAATTCATGGAGTCTTGATGCTAACCTTGAATGTACCACAGTGGTTTTATTGAAGAGCTTCACAATTACAAATACAATTGTGCTTATTGGGAAGGCTACAGATGCCCTAAAGCCCAGGACAGCCAATACATGTTACAAGCCATCATGGGGTAAGGGAGTCAATGATTTCAAGGACTTCCCTACTATTAATGCAGTTATTAAGAATATGTGAAATGTTGCAAAAAAAGTTGGTGGGGAACGCTGTCTGAAATGACTGAGGATGACGTTAAGGAACACACCGAAAAGCAAAGAGAAACCCTTACCAGCTAGGAACTTCAAAGTCTGCTGAAATCCACTACAGATGATGATGAGCTAGAAAACTTAGAAGACACAGAGCCATTGATTTGGACACTTGAAAAGTTTGCCACAGTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTATAATGGAACAAAGCTTTCAATCTACCTGAGAAACAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAGCTAAGCATCTGCAAATAAGACGGAACATTCAATGGTTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTACAGTGGAACAAAGCTTTCAATCCACCTGAGAAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAACTAAGCATCTGCAAAGAAGATGGAACATTCAATGGTTACAGATCTTCAGCCCTCAAGCCAAACAGATCCTAACATTAGTATTACATAGCCTCCTCAAATGAGTCCACATCTATAATCACAAGTTGGTTCTTCCAACATAGATGATAGTCCTGATGGCCTGTCAAGATTCAAGTTAACCTGATGTCTCACTACTTACCCACAATGCCATACATCTAGTCATCTCAACACATCAAAACACTGGGCACCACAGAATCATCATCATTGTTATAATCACTATACTTGGGTTATCAAGAGAGAAGACCCAGGGTTTTGGTAAGTGTTAACACATTAAACAGAAGAAATAGGTGAGAGTTGAAACAAAGAAACTTTAATGTTCTGGCTGACTACACTATGTTGATAGGCTCACAATTACTGCATCTATACTGAAAATACATAGACTCTTTTCCTTATCATGATTCCCTAAACAATACAATAGAACAACTATTTGCATAGCTTTTATAATGCATGAGGTATTTTAAGTAATCTAGACATAATTGAGACTATACAAGAGGATGTGGGTAAGTTACATACAAACATGTCATTTTATAAAAGGGACTGGACATGGCTCACGGAGTGCTGGAACCAATACCCAGCAGGTATCAAGGGATGACTGTACTGGAAAGAAACTGAAACTACTTAAGGCTTTACCAAGTGCTTACATTCACAGGGTCTATCTCCAATGTGTTTCGTACAAGTATCTGAAATGAAATAAAATTAATAAATGCTTTCCCACATTCCATACATTTAGAGAGAATGCTAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATATGGGTTCTCTCCAGTGTGAGTTTTTTTCCAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATACGGGTTCTCTCCAGTATGAGTTTTTTCATGTCCTTGAAGAAAACGGGAATGAGTGAAGGCTTTACCACATTGTGGACATTCATAGGATTTCTCTCTCATGTGAATTCTTTCATGTCGTAGAAAGCAAGTGAGCCAAGAGAATGCTTTCCCACATTCCTTACATTCATACGGCTTCTCTCCAGAGTGAATTCTTTCATGTACCTTTAAGTTATCATAATGACCGAAGGCTTTCCTACATGTTTTACACTCATAAGGTTTCTCTCCTGTGTGAGTCCTTTTATGTCGAGAAAGGTATCTGAAACGACTGAATGCTTTCCCACATTCCTTACACTCATATGGCTTCTCTCCAGTGTGAGTTGTTTTGTGATTTTGAAAGGAACAGAAATCAATACAGGCTTTCCCAAGTTTGCATTTATAGGGTTTCTCTCCAGTATGAGTTGTTTCATGCCTTCGAAGGGAACTGGAAATACGGTAGGCTTTGCCACATTGTTTACATTTATAGGGTTTCTCTGCAGTGTGAGTCCTTTCATGTCTTTGAAATACACTGGGATAAACAAAGGCTTTCCCACATACCTTGCATTTATGAGGTCCATCTCCAGTGTGCATTATCATATGACTTCGAAAGCTTGAGCGATGAGATAATGCTTTCCCACACTGCTTGCATTCATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGACTTTGCAGTGAACTAGGACAATCAAAGCCTTTCCCACATATCTTACATTTATGAGGTCCATTTCCAGTGTGCCTTATCATGTGTCTTTGAAAGCTTCCCAGATGATGAAACGCTTTCCCACATTGCTGACATGCATAGGGTTTCTCTGCACTGTGAGTGGTTTCATGTCTTTGAAGGGAACCGGAAACACTGAAGGCTTTCCCACATTGTTTACATGTATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGTATTAGACAAGAACTGGAATCAGGGAAGGCTTTAGAACACTGCTTACATTTATATGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGGAAAGGCTTTAGAACACTGTTTACATTCATACGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGAAAAGGCTTTAGAACACTGCTTACATTCATATGGTTTCTCTCCAGTGTGCGTTCTTTCATGCATATGTAATAAACTGGGCCAAAAAAACGCTTTCCCACACAACTTACATTTATAAGGTCCATCTCCACGCTGCACTGCCATGTGTCTTTGAAGGTTTCCCAAAGAACTGAAGGACTTCCCACATTCTTTACAATCATATGGTTTCTTTCCAGTGTGAAGCCTCTCATGTGTTTGAAATGAGTTGTGGTAACTGAAGGCTTTCCCACGTTGTTTATGCGTATCTGGCTTCTCTCCACATTCATGATACTCATGTGGTTTGTGCCCAGCACCAACTCTGATGTAACAATTAAGGGATGAATGACCCATGACTTTTTCTCCTCTCATACTGCTTTCACAAGGACCTACTCCAGGAAGAGTGTTCTTGGTCACAATACTATCTTGAATCTGGCTAGATGTTTCTCCACATTGAGTTCCATCTTTACTTTCAACAAATCTCTCTAACATACGACATCTGTAAAAAATGGGAAATATATCACTAAAAGTCGGTCTATAAATAATTGTATAGGTATTAATAAGTATTGGATGTACATTTTTAACACTATCATGCGAAGTGCAGGCTTCGTGTCCTGCTTGAATGTGAATGGATGGAATGCTGTGCAAGGTAACTCGACCCAGGTGTTCTCAAGACAATCACATTCATATGTGGATTCATAATATTGTTGTCATGGGAACTAATTTATGAACACTGAACAGCTATGGAACATTTAAGTATATATTTTGGAGAAAATTTTCTAAGAATAAATAAATTTAAGCTAGCCTTGTTCATTTTCTTTGCTTCTTTTTAAATTTTCATGTCATTCTCAGAACGGCTCCAGGGACATATCTTTCTCTTGTGAGTGTAAATTACCTTAGATTTTTCCTGGGATATCTATATTGATCTTCAATGTTCTGGTCTTTCCATTTCATTACTAAAAGGTATACACAGAAAAATCATTACAAATTTTTACAAAATTATAGACAAACAGTAACATTTTGATGTACACTGCAATCGTTCAAAATGCATTCACTGAAGTACACCTGACTCTTGAAAAACAGAGGTTTGAACTGCACAAGTCCATTTGTATATACATATATATATGAATGTTCTTCAGTCTCTGCTACCCAAGACACTAAGACCAGCCCCTCCTCTTACTCAGCCTACTCAATGTGAAGACAATGAGGATGAAAACCTTTCCGAGGATGCACTTCCACTTAATGAACAGTAAATATAGTTTCTCTTCCTTATGATTATCTTTTTAACACTTTCTGTTTCTAGCTTACTTTACTGTGAGAATATACGATGTAATAATACGACATAAAATATATGTATTAATCACTGCTTATGTGACTGATAATGCTGCCCATCAATAGTAGGCTAAGATGTGGACAAAAAGTTATATGAGGATGTACAACTGCTACAGGAGCTGGCACCCCTAAACCCTGTTTTTTTTTTTCCAGGGCCAACCATATCCCCT	TTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGCCTGATCCATCCCACATGTACAGAGGAGGAAGGGTGAAAATCACAGTACTGAGAATCTATACTCACTTCATAAATTTCACATGATGCTGTGGTTTCCAACCATTTTATTCAATGACATGGTAAACCCACTCTTATTCTCTGTCTACACTCACTTTCTCCTACACAGTAACTCTGAAGCTACAGTTAAACATGTTTGGTAAATTAACAGTGGGATAGAAACATGCCACTTGTTGGCGAACTGAGTGAGTGAATCACATAGCCTGGATCACCCCTAATGTTGATTTCCACAGTGGGTCTGCAGTCCTTGGCACGATAAAGTCCTACTACTTATTGTGCAAAAGGGAGTTACCATTAGCAGTGCTGAGACTGTGTGTCCTTACAAATGCTTTTTCACAAAGTTGGGCTTTTCATGGTATCTAGACAGTGTATTTAGGGGAGGGCCCCAGGAGCGTAACTAATAATAGGGGTGGAGTGTGCCTAAATTGTTTACGCAAAAAAAATACAGTATTTCCTTAACCCCATCTTCCTTCTGAGAGTTTGGAATTTTGTTACATACTCAGCACAGGGAGTGCACCTGATCAGCCACTGCTAGGTTTGAATGGTTGTCCCCTCCAAAATGCACACTGAATGTTAATCTCCAAAGTGGCAGTAAAAAAAAAAAAGTGAGGTTTAAGAGGTGATGTAGTCCTAAGGGTTTGGACCTCATGAATAGATTAATCCGTAACGGGTGAATGAATAAATGAGCTATCTCATGTCCTTCTGAGAAGAGTAAGAGATCTGAGCTAGACACTCAGCTCCCTCACCATGTGATACTCTATGCCGCCTAGGGACTCTGCAGAGTCCCCACCAGCAAGAAGGTTCTCACCAGATGCCCAGCCTTAACCTTGGACTTCCCAGCCTCCAGAAATGTAAAAATTAAATACTGTTTCTTATAAATTACCGAGGTTCAGTAATTCTGTTATGAATAACAAGAAACAGGCTAAGACAGCTACAAAGAAACACTCTGGGCATTGGGTCTATAATGAACTTTCTGGGTAGATAACATTTCACGTTTTGTTGCAACTTGTTATTTGGGGGATTTAGCCCATCCTATGTGATTATACTTACAGAGAATATTTGGAAGCTGGCAACTAGTTTCCTTTAGATCAAATGTACTGAAGTATGACAACAGACTGAGAAAAGATATTACACCACCTCAAAGGAAAAATTTTAAACATTTTGAGTAACGCCAAAGGGGAAAGAAAGAAGGGGAAAGACTGCACATATTCTTAGAAAGAACTCAGTGTCATCTCTCATGAATATTTATAATACTTACTAAGAAACTAAAACAAATCTTTTAGTAGTCAACAAAAATTACATTACCAAATCTAATAGAACTCACAGTATCTAAAAAATGCTGAAAGCCTTCTCACCAAGAAAGTGCAGCATTCCAAAAACAAATAAAGGATTTTATTTGGCACCCCGTACTATTAACAGAGAGATAAATATATATATAAAGAAAAATGAAAACTGGTAGAAAAGTCTTGTGGAGCTTTTATTTGTCCTTGGCCCAATCCCTCCCCCTATCAATACCAGTCTTGAACACAGCAGCCTGAGTTCCCGGTATAGAACCCTGGACACTAATTCTAGAGACAGCATATCAGATCTTATTTGCAAATTATTGCCTTGCATTTTCCAATCTGTATAAGGACTATCCCGAGGTCTGAAACAAAGCTGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGCCACACAACCTTGGCTCACTACAACCTGACTCCCGGGTTCAAGTTATTCCACCCAGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCATGCTCCACCACATCCGGCCAACTTTTGTATTTTTACTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCGCCTGCCTTAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACAGTGCCCAGCCAAGGCCCTCTCTTCTACTTTATCTACAATACAACACGATCAGGGTCCAATTTGGCAGGAACTGCATGAAAATGTTGCAAAATACACAAAAAGCCTGTAGCCAACTGGAAGAACAGACTATGATTAAGACATACAGTAGACCAACTAAGTCATGGAGAAAAAGAGCTGAAGAGAAAATGTCCTCCAGATATCAGGGTACTCAAAAGCACCCAGGTATCCTGGGGAATTGAGAAAGCCCCATGCATGCACAGTAAAGAACACATTTTCACAAAAGACACCGGAGAAGAAACCCTCATTTTCACTTCTGGCTGATCTGTAGCTTTAAGTAAGCAGAACATAAAGCATAAGTAGAGTATTAAACAGCCTGGCTAAGTGTTCAAGGGATGCCCCAGGCACAGAGCCATCCACAAAGACTGGAAGAGGTCAGGCTTTTGTATGCTTTATCTTTTTTACTAGCTTCTAGCATTCAGGAAATCTCTGCCAGAACACTGGATGAACACACACTAAAGAACAGAGATGTCAGTTTCTACAACAAATAAGGAATACAGTCTGTGCAAACATACTTTGAAAATGTTATTAAACAAATGAACAATTACAGTCTTCAACACACATAAACAGAAAACAGTGAGGAAAGAAGAAGAATCCAATTTTCAGAATTACCCCATTATAACATTGAGATGTCTACTTTTCAACACAAAATTATGAAGAATACAGAAAAACATGAAAATATGGTTCATCAATTGGAAAAAATATAATTGAGATAAGCCATCTCTGAGAAACCTCAGACACTGCACTCACTGAATAAAAACGTTAAAACAACTATCTTAAATATGTTCAATGAAGTAAAGGCAATGATGAACAAATAACTAAAAGAAAACCAGAATACAGATATAGAGATAAAATAATATCTATTAAAAAGTAGAAATTAACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGTGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCCTATCTCTACTAAACATACAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGACGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCAACAAGAGCGAACCTCTGTCTCAAAAAAAAAGGGGTAGAAATTTAGCCATATAGAATTTATGCAGCTGCAGGGTACAACTAAAATGAAGACATCATCACAAGTGTTCAAAAGATGTGAGCAGCCAAAAAAAAAAAATCAGTTAAAATGATGATAAACCAATTGAAATTAATCTAATGGGGAAAAAAAAAGGAATGAAATTGAGAGAATGTGTTACTGGTGTACTTGTCTTGCCAATAATGTTAAAAGAAGTTCATCAGAGAGAAGAAAAATGATACAGGTTAGAAACTCAGATCATACACACACACACACAAACACACAAATATATACATATGCATATATATGAAGAGCATTAGAAAATAATTCAATGAAGGCACAAAAATTATTTCCTTTTCTTATTCCTATTGGATATCATAAAGGTTTGTTCAAAAAATAATATCAACAATGTATTGGGTGGTTATAGTTTATAATAGGGCAAATGGATGACGGTGATGTTAAATTGGGTGGGAGGGAGGAATGCTGAACACTGGGTTATATAAGCATTACCCCAAAAGCCAGTACAGTGTTACTTAAAACTGAAGGTCCATTTGTTGTGAATGGTTTACTCCAAATGCTAGGGAAATCAATAATAAAATGTTAAGAAACAACAGCCTGTCACAGTGGCTCACCCCTGTAATGCCAACACTTTGAGATGCAAGACAGGAGGACTGCTTAAGATCAAGACTTTGAGTCCACACTCGGCAACACAATGAGACTCTGTCTCTAGGAAACGTGTAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCCTGCACCTGTAGTCCCAGCTACTCAGGAAAGCAAGTAGGGAGGATCTCCTGAGCCCAGGAGTTGGAGGTTATAGTTAACTATGATTGCTCCACTGCACTCTAGCCTAGGTGATAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAAGAAACAAGTAGACTTACCATACTATTAGAAGAAAATACAATCATATAGACTCCTCAGTTAAAATAAAAGGAGACAGAAAAAGGAAGTTGAAAAAAACCGACAAGTATAACAAATGTAAAACAATTATATATGTACATATGAATCCAGGTATATCAATAACCACTTTAAATGTGTATTATATGAATATACCAATAAAAGAAGACAAGGACTGACACAGTAGAAAAAAAACAAGATCCACCAATGTGTGCAAGAAAACTATTTTTTTATTCTCTCAAGAAAACTATTTTAAGTAGAAAGACACAGGTACATTAAATATAAAGGTATGAAAAAATATACTCCATTCTAGCCCTAATCAAAAGCCATATGGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAAGCTGGTGGATTGCCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGCGAAACTGTCTCCACTAAAAATACGAAAGAAAAAAAAAATTAGCCAGGCATGGCGGCACGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGACAACAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGGTCTTAGCTGGAGGTGGGGGCATTGGCCTCAGGCCTCTCTGCCATAGTCAAAGCTACTCTCTTACCCTTCTATGCTTTACATGGATATTTAAAAACAAAATACTCATGTTTGATGAATCCAGGAAAATCACTCAAATTCAGTGTTTATGTCTATGGGTGGGAAGGAAATTGTAAGGCACTGATATTTTATACCTCAACAGGAAAAGCCCAAATACCTATCCCTTCCAGACAATGAATGTCATTTAATTACTATTTCCATGATAGTAAGTGATACAGTTAAAAATAATTATATTTTACTTCTTTAGCTGTTGGAAAGTCCTGTCCCACAGAATTTAGCATTCATCTGTCAAACCCATATAACAGGAACAGAACAGATTTCTCCATTGTCCCAAAATCTCCACCCTTTTAAAAAGGAGAACTGAACTTTTGTTAAATCCTTTTAATTCAATGTACCTACTACACTTTCTTGTAAAAATGTATTCCTTTTTTGCAGCCATAATGGAAGAGGGTTTTTTCCTTGGTAGTAGTTATACTACTAAGTCCTGAAATTCCATCTGAAATCATCCAAAAAACAAACACACCTGAGAAACATACTACACAAGCTCTGGGGCAAAAAAAATAAATAAAGGTTTTTAAAAAATGGAATAGAAGATTACATATACCATTTATATTCTGAAATCCAACTCTTTCTAGAATTACTTATACAATTTATTTTCTGAAGTCCAACTCTTTCCAACTTTGGGTATACTTTGTCTTCAAAGTATACAATAACAATCTCTAATCATAGGATGTATTTTAAGGTTAATCAAAAATTTAGGCTGAAAAGAGTAAACATATCTTTTCAAGCTAACAAACTCAGGAATCAGCAGTGCTGACTGGAACACAGAAAAGTCTAATGCAACAATCAGGGTGGGTCATCCTATCACCTGGGACATCCCTTAACCCTATTCTGGTCATCACCCTCCCAGGAGACACTGCCTTGTGTGCTTTTCAGGATCTTGCACTACCTCAACGGGCAGGTTCTCCAGTCCTTAGATATAACTTTCTACCTTTTAAGTCTGAGAGAGTCCAGAAGGCAAAAATCATTTCTGTTTTTTTTTCCTATGGAATATGACCATGAAATTGGCTGTTCAGTCATGTGTCTCCAAGGAATGGAAACTAGGGTTGGGAAGAAAAGGTGAGTGTCCCAGGAGTTAGCTTTTTACAGGAATTATATACCAGAAGATTCCTCCCATCCCAGTGGATCCAGTTGCTCCCCAGGGGGCCACACCCCCCATCTCAGGCTGTCCCCTGGGAGGAGTGACCCAGGGGATGATATTCACTAGACCCTCCAAGAGACTTGGCAGCTGTGGACACCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCGGCCTCTGTTGCCTAGGCTGGGATGCAGAGGCACGATCATAGCTCACTGCAACTTCAAACTCCTGGGCTCCAGCCATCATCCCACCTCAGCCTCAGGAGTAGCTGCGACTACAGGTGCCAGCTACCAAGCCCAGCTAATTTTATTATTATCATTTATACTAGAGACAAGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTACTAAGATTAAGCAATACCTCTGCCTTAGCCTCCCAAGGTGCTGGAATTACAGGAATGACCCACCGTGTTCAGGAACCCAAAATAATTCTTTCAAGAAAAAGCCATACATTGCTAGCTGAAAACAAGATGACAAACTAGTGAAATATCGCCTGGGGGCCAAACAGTTCATACCGTTGCTGTGAATTAAGGACAGAAGGTTAGCCTGGGGAAGTCTCTGGAAACCAAGAGATTTGCTGCCAGCCCTAGGAGGAGTCAGGATGAGAGAACACAGTGGTGGATTTGAGACCCTGCTAACCACATCTTTGGAAGACTCAGAGGGGAAACGGTCGCCCTTGGAAAGAAAGAAGGGACTGAGGACCACGGAGACCACAGCTCCTCCCACACACAAACCCCACACACGAGTCTGGATTCCACCTGGTGACTCGTCGTCACCGTGCAGCCTCCTCACCGGGTTCACAGGAACTGCGAGCCAGGCTGGAGGCGAGATTGCAGTTAGATATTAACCAGGTGCCCTCAGCCCCGCTGCCTCAAGGGGCCGCCTCCCTGAGAGTCAGGTCACAGCAGACGCTGACCGCCGGCTTCCCCATTGTGCCTGGGGATAAGATCTCTGAGAACTGCTCAAGAGTCGCCGGAGTTCTCAGATCCTGAATCCCAGCAAAGGCTGGCGCCAATCAGGTTGAAGTCCCAACGAGGGAGCCCATTCAGCAGAATGCGGTTTCTTCACCTCCTGTCCCAGGATTCACCCCTCACTTCCCCACCAACCAACGACCCTACACCCAGCCGCCCCCGTCCAGACCCCAAATCCCTCAGGGAGGCGGATCTGGGGTGTCCTCCCCTCTCTGGCTATTAAACTGTTTCTGCTGCAGCCCTCAGCGTCTCGGTGCAGTGAGTCGGGCCGCGAACCTGTGTTGCTTACAGCCGCACAATCTCGGGAGACGCGAGGCTGCGGGCGCGGAGCTGCCCAGAGAGGGCGCCGGGGCCGCAGTCGCCGCGCAGGAACGGGACAGGACGCCCGGGGTCCCGGCTGCATGCCCAGCCCCACCCTGCGGCCGAGGGCCGACCTACGCCAGGGGAACCCGGGTCCGTAGATCCCGGAGTAGCCCTTGGGGAGGCCCGGGTCCAGCCACAGCCGATTACTGCAGGTTCCACCCAGCCCCTCCCCCGCCTCGGGACGCCGGCCCAGCACACGCACCATTTCCCGACTTCCGCGGTGTCCCAGGTCCTCCGGACGGCTCCCGCTGCCAATGCGGGTTCCCGCGGGACACAGGCTGCCACGGAACTTCCAGGTCGTCTCTTAGCTACAGAGCCGAGCACCGAGCGCCCAGCGCAGGTGGGTGGAGAAGACGCCGCGGGCTTTTTCAACCACACACTCCTCTGGGAAGCGCGCCTGATTGACAGTTCCCACGAACCCGCCCCACGGCCCTTACTGGATACGGCGTCAGGTGCCGCCCCTCGTGGACTGATTGACAGAAGAAGCGATCTTGCACAGCTGAGTGGAGCCAGATGAGCAAGTTCCTGACACAGCCCTTGGCAGGGCGGGCTTCCTCCCTGCTCTTTGATCTGAATCCTCCCGAGGGATATTTGCACTTAAGCGGAATTTCCTGCCTGTACTCAATAGGACCTCCTGCTTCTTCCTCCTGTACACTGACTGACAAAACAATTATACTTTTTTTTTTTTTTTTTTTTTTTTTTCCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGTCTTGCTCCGTGGCTCAGGCTAGAGTGCAATGGTGCGAGGCTCACTGCGACCTCCGCCTCCTAGGTGGGTTCAAACAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACACCCGGCTAATTTTTGTATGTTTTAGTAGAGGCCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTTCTGGGATTAGAGACGTGAGCCATCGCGCCTGGCTCCAATTATACTCTTTTTCAATGAAATTTTTCAAAATATTTCAATGTACAATTAAATTATTTTTTACTATAGTCACTCTGTTGTGCTAGCAAATACTAGGTCTTATTCATTCTTTGTAACTATTTTTTATACCTATTAACCATCCCCACTTCCCCCATAACTACTCCTCGCTACTACTTTTCCCAGCCTGTGGTAACCATCCTTCTACACGTTTTTGGTTGTTTGAGATGGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGGGCCATCATGGCTCACTGCAACCTCTACCTCCCAAGCTCAAGCAATCCTCCCACCTCAGCCTCTCAAGTAGCTTCAGATTGTTCACTGTTGGCATATAAAAATGTTACTGATTTTTGTATGTTAATATTGTATCCTGCAACTTTACTGAATTTATTTCTCAGTTCTAATACTTTTTTGGTGGAGTCTTTAGGTATTTCCAGATATAAGATCATATTATATGCAAACCAGGATAATTTGACTTCTTCCTTTCCTTCCCAATATAGATGCCCTTTATTTCTTTTTTTTTTTTTTTTTGGACTTATTGCTCTAGCTGGGACTTCGAGTACTGTGCTGAACAACAGTGGTAAAAGTGGGCATTCTTATTGTGTTCCAGATCTTACAGGAAAGGCTTTCAGTTTTTCCTCATTCATTATCATGCTAGCTGTGGGTCTGCCATATATGGCTTTTATTATGTTAAGGTAGCTGCTTCTATACCCAGTTTTTTTTTAGGGTTTTTATCATGAAGGGATGTTAAATATTATCAAAAGCTTTTTCAGTGCACATTGAAATGATTATATGGTGTTTGCCCTTTATTCTGTTGAAATGATACATCACATTGATTGATTTGCATATATTGAACCATCCTTGCATCCCAGGGATAAAGCCCACTTGGTCATGATGAATGATCTTTTTGGTGTATTGTTAAATTCAGTTTGCTAGTATTGAGTTGAGGATTTTTGCATCAATATTCATCAGTGACACTGGCCTATAGTTTTCTTTTTCTGACATGTCTTTGTCTGGTTTTGGTGTCAAAGTAATATTGGCTTTGTAAAATAAGTTTGGAAGTATTGCCTTCTCCTCTGTTTTGGAATAGTTTGAGTAGGATTGGTATTAGTTCTTTTTTAAATGTTAGTAGAATTCAGCAGTGAAGCCACTGGGTTCTGGGGTTTTCTTTGCTAGCAGACTTTTTATTATGGCTTTGATCTCATTATTTGTTATTGGTCTGTTCAGGTTTTTTATTTCTTCATGGTTCAATGTTGCTATGTTCTATCTGCCTAGGAATTTATCAATTTCTTCTAGGTTTTCCAATTTATTGGCATATAGTTGTTCTTAGTTGCATTAATGATCCTTTGAATTTCTGCAGTATCAACTGTAATGTCTCCTTTTTCATCTCTAATTTTATTTATTTGGGCCTTTCTGTTTTTTTCTTAGTCTACCTCAAGGTTTGTCAGTTTTGTTTGTCTTTTCAAAAAACCAACTTTTTGTTTCATTGTTCTTTTCTATTGTTTCTTCATTTCAAATTCATTTATTTCTACTCTGATTTTTATTATTTCTTTTCTACTAATTTTGGGTTTGGTTTGCTCTTGCTTTTCTAATTCTTTAAAATGCATTCTTAGGTTGTTTATTTGAAGGTTTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTGATGTGAGTTTTACTTCACTCTTGCAGCCTAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACCCACCACCATGTCTGGTTAATTTTTTGTATTTTTAGTAGACAGGGTTCCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAAGCTCAGGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCGCACCCAGCCTGCAGGTCTTCTTCTTTTTTGATGTAGGTGCTTATATCTATAAACTTCCCTCTTAGTACTGCTTTTGCTGTATTCCATAGGTTTTGGTATGTTGCATTTTCATTATCATTTGTTTCAAGCAACTTTACAATTTCCTTCTTAATTTCTCCACTGACCAATTGGTCATTCAGAAGCAGATTATTTAATTTCCATATGTTTGTATGGTTTCCAGAATTCCTCTTGTCATTGATTTCTAGTTTATTCCATGTATTCTATGACACAATTTAAATTATTTCAATTTTTTTGGAGAGTTTTAAGACATGCTTTTTGAACTAACATATGGTCTATCCTTGAGAATGATGCATGTGCTCGGGAAAAATATGTGTATTCTGTAGCTGTTGGATAAAATGTTCTGTAAATATCTATTAGATCCATTTGATCTATAGTGTAGATTAAATCCCATTTAATCTTTCTTTTGTCTGATTTTTCAGTATATATTGAGATAATCTTTGTCGATTTACTGTCTGGAAGATCTGTCCTGTGCTGAAAACGGGGTGTTAAAATCTCCAGCTATTATTGTATTGGTCTCTCTCTCTTTTATTTTTATTTTTATTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCACGCTGGAGCGCAATGTTGCAATCTTGGCTTACTGTAGCCTCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCTCAGTGCCAGTCTTAAAGACAGCAGCCCGAGATCCCAGTATAAAATCCTACTCACTCAATTATCACCTTTGTATTTTCGAATTGGTATGGGGACTTTCCAAAGGTCTGAAACAAGGCTCTCTGTTCTATATCATCTACAATAACTCAGTCCCTGTCAAATTTGGCAGGAATTGCCTAAAAATGTTGTAAAATACATCAAAAGCCTGCAACCACCTGGTAAAACGGATTATGATTATGACATACCATCTCTGATGGTTAATACTGAGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGCCTCTGTGAGGGTGCTGCCAAAAGAGATTAACATTTGAGTCCCTGGGCTGGGGAAGACAGATCCACCATTAATCTGGTGGGCACAATCTAATCAGCTGCCAGCGAATATAAAGCAGGCAGAAAAACATGAAAAGGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATCAGACTCCAAGTTCTTCAGTTTTGGGGCTTGGACTGGCTCTCCTTGCTCCTCAGTTTGCAGACAGCCTATTGTGGGACCTTGTGATTGTCTAAGTTAATATTTAATAAACTCCCATTTATATATATATATATATCCTATTAGTTCTGTCCCTCCAGAGAACCCTGACTAATACACCATCTAAATCCTGGGGGAAAAAAGTTGGAGAGAAAATTTCCTCTAGTAAACTAGGGTACTCAAAAGCACTCAGGTATACTGGGGAATTGAGAAAGCCCCATGCATGCACAGGAAAGAACACATTTTCACAAAACACATGATAAAACCCTAATTTTCAGCTCTGGCTGATCCCTAGGTTTAATTAAACAGAAAATAAATGCTAAAGTAGGATTTTAAACAGCCTGACTGTGTTTTCAAGGAATGCCCCAGTACAGAGCCATCCACAAAGACTGAAAGAGGTAAGGTTTTTGTTTGTTTCATCTTCTTCTTTACTTTTAGCTTCTAACATTCCAGAAATCTGTCAGAACACTGAATGAACACAGAGGAATAGACATCAGTGTCTACAATGAATAGGGACTACAGTCTCTGCAAACACAGTTTGAAAATGTTACTAAACAAATTACAGCCTTCAACAAACATAAATAGCAAAGAGTAAGCATAATTTTGTTTTGATACAAACAAAATTATGAAGAATACAGAGAAACATGAAAATGTGGCTCATTGATGGAAAAAGTTTAATTGACATAGTTCATCTCTGAGAAACCTGACACTGGACTTACTGAATTAAAACTTTAGAGCCGAGCGCGATGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACAAGGTCAAGCGATTGAGATCATCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTATACCCAGCTACTCGGGAGGCTGAGGCAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATTACGCCACTGCACTAATGTCTGGTGACAGAGTTGGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGGACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAACCAAAAAACTTTAAAATAACCGTCTCAAATATGTTCAACAAGGTAAAAGCAATGATGAATAAAGAACTAAAAGAAAACCAGAAAACAGATGTAGGGATAAAATAATATTAATTAAAAAGTAGAGGCCTGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAAGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTTCTTCTCAAAAAAAATAAAATTAAATTAAAAAAGTAGATATTGAGCCATATAGCATTTATGCAGGTGCAAGATACGACAACTAAAATGAAAACATCACTACAGGTGTTCAACAGTTGTGACTAACTAAAGAAAAACATCTAAAATGAAGACAAAACAACTAAAATTACCCAGTCTGAGAGAGGAAAAAAGGAACAAGGATGAGAGAATGTGTGACTGGTATACCTGCCTTGCCAGTAATGTCAAAAGAAGTTCATCAGAGTGAAGAAAAAGGATACAAGTTAGAAATTTGGGCTGGCTCAGTGGCTCATGCCTATAATTCCGGCACTTTGGAAGACCCAAATGGTAGGATTGCTGGAGCCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAAACTCCATCTCTATAAAAAATAAAAAATTAGCCAGGCATGGTGGTGCACATCTGTGATACAGGCTACTTGGAAGGCTAAGACAGGAGGTTAACTTCAGCCCAGGAGATGGAGGCTGCAGTTAGCTATATTCCTGTCACTGCACTCCAGCCTGAGTAACAAAGCAAGACCCTATCTAAAAAAAAAAAGAGAGAGAGAGAGAAAAAAAAAGAACTAGAACAAATTCTGGTCACACACACACAAACATATATACACAAATACATACAAACATACATATGCAAACTACATAAAATATATGAAAAGAATTAAATGAAGGCACAAGAAAACTCTTTCCTTTTCTAGTTCCTATCTGATGTAATAGATGTTTGTTCAAACTAATAATATCAACAATGTATTGGGTAGTTTAGCTTATAATAGGGCCAATGAATGACAGTGATGTTATCTGGGATACGAGGGAGGAATTTGGAACACTCTGTTATACAGGCACTATACCAGAAGCCAGTATGATGCTTTGTAAAACTAAAGGTCCATTCATTGTGAATGGAATACTCAAACTCTAGGGAATTTACTGGTAAAATTTAAGAAACAATAGCTAGTTGGGTAGCTCATGTGTGTAATCCCAGGACCTTTAGGAGGCCAAGGTGGGAGGATTACTTGAGCCCAGAAGTTCAAGACCAGCATCAGCAACATAGTGAAACCCTGTCTCTATAAAAATTTTAAAAATATCTTGGGCATGGTGGCACAAACTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGTGGGATCTTGAGCCCAGGAGTTTGAGATCACAGTCAGCTATGATTGTGCCACTGCACTCCAGCATGTATGAGAGACCCTGTCTCAAAAACAAAAAAGATTCTGTCTCAAAAGAAAAGAAAAGAAAAGAAAATGAAACAAGTAGTATAGTATAATAAGTCTACTTACTCTACTTCCATTTTCATAAAATTTCATTTCACATAGTAATAGATTTACTATACTAATAGAAGAAAGAAAGAAAATGGAATCATATTAAATGCTCAGTTGGAAGGAAAGGAGGCAGAAAAAAAGAAGTTGAAAAAACAGACAAACATAACACAATTACATATGTACGTAGTAATCCAACTATATCAATTGCCATTTAAACATGTATTATCTATAGATACCAATATAAAACAAAGATTGATAGAGTAGAAGGAAAAAACAAGACCCATGAATGTATAAAGAAAACTATTTTAAATAGAAAGACACAGATACATTAAATACAATGGTATAAAGAAATATATGCCATTTTAGCCCTAATCAAAAGGAATATGGAACAGGCTACATTAGACTCAGATAAATCAGGTTGTAGATCAAGGAAAATTACAAGAGATAGAGATATTTCATAATGATAAAGTGCTCAATCCTAGAGACATAATAATCCTTGATATGTATGTCCAGAAAATAGAGCATCAAAATGCATAAGGTGGCTGGGTGTGGTGGCTCACGCCTGTCATCCCAGCACTATGGAAGGCCGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGTGTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGCACTCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAATTGTGAAACTCCACCTCAAGAAAAAAAAAAAATGCATAAGGCAGCAGTCCCCAACCTTTTTGGCGCCAGGGACTGGTTTTGTGGAAGACAATTTTCCCATGGAATTGCGCTGTAGGGGAATGGTTTCTGATGAAACTGTTCCACCTCACATCATCAGGCATTAGATTCTCATAAGGAACGCACAACCTAGATCCCCTTGCATGTGCAGTTCACAACAGGGTTCGCGCTCCTATGAGAATCTAATACCGCCACTGGTTTGACAGCATGTGCAGGCGGTAATGCTTACTGCCTGCCGCTCATCTCCTGCTGTGCCACCCGGTTCCTAACCAGCTACAGACCAGTACTGGTCCACAGCCTGGAGGCTGGCAACTCCTGGCATACGGCATAAATTTATAAAACTGCAAGGCAAATACACAAATCCATAATTATAGTTGAAGGAGAACAATTCCCCTCTATCAATAATTGATCAATTGAGTAGAAAAATCACTAAGGACATAGCTGAACTCAACAGCATCATTAATCAACTGGATTTAATTCATATGTATTTATAGAATACTTCACTCAACACCAGAGTACACATTCTTCTCCAAACTACATAACATATTCACCAGGATGGACTATATTCTGAGCCATAAAACCTACCTTAACAAATTTAAAATAGATATTCTGTAAAGTATGCAATCTAACCATATTAGAATTAATCTAGAAACCAGTAACAGAAACACAGTTGAAAATCTTCCAGAAAGTCGACATTTGAACAACAAACATCCAAAATACATGAAAGACAAACCGAACTGTCAAGAGAAATTTAAATATTCTGAAGTTGATGAGAAAACTATATCTTAGGGCCAGGCACAGTGGCTCACGCCCATAATCCCAGCACTTTAGAAGGCCAAGGTGGGTGAATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGTGCACACCTGTAGTCCTAGATACTCGGGAAGCTGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAAGTTGCAGTGAGCTGAAATCATGCTACTGCACTCCACCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAACAAACAAACAAATATATATATATACATACATACATACATACATACATATACACATACATATATATACATATGTGTCTGTGTATATATCAATGTCTGTGTGCATATATATATATATATATATATATATATATATATATATATATATCTTAGCCAAAAACACTTTTCATAGAGATGAGATCTATATTCCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTACCACCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAACCATAATGCCCAGCCTTAGCGAAATGTTTGAAATGTAGCAAAGGCAGTGTTTACAGGGAAATTCAAAGAATTGAATGCAAACTCTGGAAAATAAAGATCTAAAATCAATGCTCCATTTTGAGAAACTAAAGTTCCATTTTGAGAAACTAAAGAAAGAACTCCAAGATAAATCACTCAGAGGAAAATTACAATGAGAATATATTAATGAAATTGCAAACAAGATATCAATTAAAAACATCAATAAAATCAAGAGCTAGTTCTTTAAAAAGACCAAGAACATTGCTAAACCCACAGCCAAGCCAACTCAGAAAAAAAAAGGGGGCCATCACTACTATTCCTATGCACATTAAAGTGACCATAAGGGACTATTCAGAGCAATTGCATGTCTACAGATTTGTTTAATTACATGAATGGGCCAATTCCCTGAAAGACAAAATCTACCAAAACTCACAAAATTAGACCCATGTAATACGAACGGGCATAATCTATTTAAAAATTGGAATCACTAAATAACAAATGTCCCAAGAAAAAGGAACCAGACCAGGATGGTTTCACTGGTGAACTCTGGCAAACACTTATGGAAGAAATGACACCAATTTTCTACAATCTCTTCTGAAAAAGAGAAGCAGAGAGAAATCATGTTATAAGGCCAACATTGCCCTTGCACTGCAACTAGACAGATGATACAGACATATCTCCGCCATGTAAGAATATAAAAGGAAGACTGCTATCTGCAAACCAAGAAGCAGGCCCTTACTAGAGACTTCATCTGCTTGAACTTGGAAACCCAGCCTCTACATCTTTGAGAAATGTTTGTTGTTTATGGTATGCAGCCTGTGGTAATCTGTTATAATAGCTTGAGGTGACCACACATCAAGGCTTTGAAGTCTATAGTAATGAGGAGAGTATGGTATTAACCACAATGACTAAAAGAGAAACCAATGGAAAATAGCCAATTCTAAAACAAGATCACCAATTTAAGACACAAGAACCTATGACATGCAGGTATTAGCAGGCAACGATATAAATGGGAGACACTTCAACACAAAAGACAGGGACAAATGGTTATCTTCAAGAGAAAAATCAATTTTCTGCTCATCATCTTCACATACAATAATCAACTCACTATACACCTACCTGTTTTGTGAATTCTTATTCACTTGATATTGCCCCAGTTTCCATTTTGGTTTTTCGTTTTTGTTTTTTTTGAGGCAGACTCTCACTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGATGCGCACCACCACACCCCGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTTACCATGTTGGTCAGGCTGGTATCGAACTCCTGGTCTCAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTAAGATTACAGGCATGAGCCACTGTGCCCAGCCCAGCTTCCATTTTGAATTTGCTTTGAACACTCTCCAAGCAGAAAATGGGTTTGTAATCTCAGATACACTTTCTTGTTCTCTACCTCCTCCTCCTTCCTCAATGTGGTTGATCCAGATATCTCCCTTACGTAACCATCTTTCTGTCACCATGTCCCTATGGGACAGCTAAATACAACTTGCCTGACTCACCCCCCACAGCCCACATGGACTGCAGACATGTGTAGCAGTGACCACCTCTCAGTCAAAGCTGGACTCTGGGGAACTTGCGCATACTTCCTTTTAAACACACCAATTAGAACTCCCCAAGAGAAGCCTGGTTGGGTAACCCCTGGGCCCCAATAAAGGCTTCAGCTCATGAGTCCCCCTCCCTCTCTTGTTCCGCACATACTGGTCAAGTGTCCATGTAACTCAAGACCGCTAACTCTTGGTCTTCAAGGCATGCTAATCTCTTCTGTCTAGGATGTCTATGTAAATGCACTGTTTCTATTATTTCCTGTATTTTGTTGAGTTGCCTTTTCTATGTCGCACCTGACCAACACATCTGAACCTAAGTTCTATCCAGATCAAAGCTCTCTTTGTAGGATTGTCTTGGCTGCGGCTGTCTTGGTAGAAATAAAATAAAAATTTGTCAGAAAAAAAAAAAACCCACGAAATGTCAGCAAAAACAAGTGTTCTTGAAGAGGAACACTTGGTCACTAGTCTGACATTTAGGCATTATTAGGCCCCGACCAGGAAAAAGAAAAACCTAAAGGGTCACATTTGGCTGGCTTCCAAATTAATCTACCTGGGGGAGGTCTTCTGATCCACGGCCCACATCCTGTCCCTGAGTAAACAATCTTATCCTGGGCTGGGGGTGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGCCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATAGAAAATTAGCCAGGCATGGTGGTGCGTGCCTGCCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTGATGGTGAGCGGAGGCTATGGTGAGCCGAGATCACACCATTGCACTGCAGCATGGGCCATAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGAATCTTATCCTGAGTCCCTCAAATCATATTGTGAGTTCTTCAAACTGCTGATGCTCTCATTAACATGTAACCTACTGACATCAAAAAGGATCCTGATTCGTTTCTAAATCATGAAGTTTTCCTGATTGTCTTCCATGTAGAACCTTTTAGCCTGTATGTTGTCATGTGTAACCAATGTTTATAACCTCTGAATTGTACCCTCCAATGAAAAGGACAATTCACCAATGAGGAGTCCCCCTCCCTTCTCCTAAAGGTTCTTAGGAAAGCGTCTGATTTGTAATGGAGGTTGGAACACATCCAAATTTGCTGGTGTGTCTTCCTGGGTCAATCCTCAAATTTGACCAGTAAACCTACATAAAATGACTTCTACCTCAATAGCCTTAATTTAGGTCAACAGAAGGCTCTCAGAAAGGCACAATTTCAGAAAATGAAAGCCCACAAGGGAAAAATGTTCTGCACCAATGCTAATCAGTAAAAACCAATATATACTCATATGGAGATAAATAAAAGATAAGTCTTTGTAAGGAATAAACACACACATGCGTACACGGTCAGACAGGTAATGTACACATGCCATTAGAATTTCTTAGAAAACTTAAATTCATCCATAATCTACGACCAGTAGTGGGAATATTGAGGAGAGAAAGTTACCCCCTGGGGAAGGCTCTGGAAACCAAGGGACTTACTGTGACCCCTATAAAGAGTTAGGTTGAGGAGACAGGACGGTGGATTAGACAGGATGGTGGACTTCAGACTCTGCTGTCCAGGGGAAGGGTCCGCAGACCGGGTAGTCGCCCGTAGGGAAGTCTGGGTCCTGCCCCAGCTGGTAACAGCTGGTTCCAACCAACCCCTCCTCCCGTCTCCGGACCCCTAGGCCGTGCACACGCACCATTTCCTGGCTTCCACGGTGTCCCGGGGTCTTCTCTACGGCTCCTGCGGCCTGTGCGGGTCCCAGTGTGCCAGAGGCTGCCACAGAACTTTCAGGGCGTCTCTTAGCAACAGAGCTGGGAACCAAGCGCAAGGAGTGGAGAAGATGCCCTGGGCTCTTGGAACCTCACAGCCTCCTCGCGGCAGCTCCCTTATTCACAGTTCTCACGACCCCACCCCACGTCCCTGATTGAGTAGTGTACCATGTCCTGCCCCCTGGGGAACTCAGTGACAGAAGAAGGTATCTCTTGGTGCTGAGTGGAGGCAGAAAAACAGGTTCCAGACCCAGACCCTCACAGAGCGATCTTCTTGCCTAGTGGTTCCTAGTGCTGTGACCTTATCCCGCCCCTGGGGACATTTGCATGTGGGCATAATTTCCCACCTGTACTCAATGAGCTCTTACTACCTCTTCCCCTGGACAGATCACAAGTCTGTGCTGGGAATCCCAGACCACTGTCCAGTGGAGCCATCCCCTAGCCTCAGAGCAGGAGGGGAGCCCAAGCCACACAGGCCACCCTGCAGCAGGAGGGAAGGCCTGATATCCTCCAGGGATCAGGAATTTCAGATGGGGCTGCTGGCGACATGGCCAAGCCTTTCTCCCACCTTATCTCTCAATCTACTCATTTTCAGCTCATAAAAGCACATCAACAATGAAATAAAACTGTTACATGCATGGAAAAACTGGAATTATAAGGCAACAGTCTTCTATAAAGGAATCAAAAGAGAAGAAAGGAAGAAACATGAACTAGCTCAAAGCAGCAGCCTGCTGAACCCACAGTTCACAAGCAAACTCCCTTTCAGGAGGTCAAACAGATTCCCAAGCTTAGGAGCCAAACTCTGACTCCTGAAACAATCTAGTGATGAGGCAGGGACATGGAAGCATTTAACTTTTGGCACTCAACTCGCCCTCCTATCCTGCTTGCACACTGTGGAAACACTCCTTTCTTCAACACTTTAAATGTTAACGAATTAAACGCTCCAATCAAAACCTGAAACATTAGACTTTGAATCTGAAAACATGAGTTTTGCCATGTTTTTAAGGACCAGACATAAAAGCATTGTGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTACCTAGCACTACGGGAGGCTGAGGCGGGCGGATCAGCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTTCCCGGGAGGCTGAGGCAGGAGAATCGCTGGAATCCAGGAGGTGGAGGCTGAAGTGAGCTGAGACTGTGCCATTGCACTCCAGCCTGGTGACAAAGCGAGACTCCACCTCAAAAAAGAAAAAGCATCATCAACTGAAAGGTGGAATCCATTGCTAAAAGAAAGGAACCAAACATGAGGTGTCATCAGATTAAATGAAATCTTCTATTTTTAAAAACTGTAGCTTTTCCTGACAGGGAAAATGGGCATGTTTGGCAAATAAGAAATAAATGATGTCTGATTATAACTCATCAACAAATAATTTTCATGTCTTAAAAAATGACATACACACACACAGTCTATTATCACAAGATTTTGTTCCCTCCTTGAAGGATAAACTACTGCTCTGCAAGATGCTCCACCCTTCACTCCTCACATTAACTGCTGCTAGCATATTTATTTGTTCCAAAACAGGTATAAAAAGAGGGTTCAGTGTGTCAAACTACATGATTGTTAGAGGTTTATGTACAGATTTTGTATATTTTTACAAACTGCACCAGTTAAGTAGTTGATTTATGTTGTTTTTGTTTTTTGTTTGTTTTTAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCAATTTCGGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCTTCAGTCTCCCAGGTAGCTGGGATTACAGGCATGCATCACCACTCCCGGCTAATTGTTTTTTGTTTTTAGTAAAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAGCCTACTGTGTTGATTCTTACAAAAGCTCTAGTACAAAAATAAATGTTCACGTTACCATGATGAAAAACTCAGGAATGGTGACTCCTCGATTCCTCTGAAAAACAATTTTTTTTAACCCTAAGAGAAGCTAGGAAGTCTACAGTAAATGGCTGGAGGTGATCCCTGAGAGAACACATTTTAGTGGAAAAGGTCACTCATGGAAAATACCAAAATTTATATGTAGCAGTTTAAATATACTACAGGAAACACTGCGATTACATTCTTCAGTTACCTCTATGACAGCATGATGGTTTTTTTTTAGGTAGGGTGTTTCTTTTTGGTTTTCTTTTAAAAAAGAAAACTGTAGGCTGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCATATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGTCATGGTGGCGGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACTATAAATCTTTCCCCACAACTGTAAATCTTTCTCATTCATAGAGATATCTTCCTAAATGTGCTACTAAACTTATATTTATATTTTCACCATTTCAGTGTGACTTCATTTTAATGCATGCTGTTATAAGGGTCTCAGTTGCTCTTCTCTGCAGGTCAATATCTGTTGCGGGAAGTCAGGGACACCAAATGGAGGGACCGGCTGGAACCGTGACAGAAGAACATAAATTATGAAGATTTCATGGACATTTATCAGTTCCCAAAATTAATACTTTTATAATTTCTTACGGCTGTCTTCACTGCAATGTCTGAACATAAATTGTGAAGATTTCGTGGACATTTATCAGTTCCCAAATGATATTTTTATAATTTCTTATGCCTGTCTTTAATCTCTTAGTCCCGTTATCTTCGTAAGCTGAGAATGTACATCACCTCAGGATCACTATTGTACAAATTGATTATAAAACATGAAATCAGTGCACCTTAAAAAAGAACAGAATAACAGCAATTTTCAAGGAACAAGGGAAGATAACCATATGGTCTGACTGCCTGTGGGGTCGGGCAGAATAGAGCCATATTTTTCTTCTTGCAGGGAGCCTATAAACGGATGTGTGAGTAGGAGAAATATCACTGAATTATTTTCCCAGCAAGGAATACCCTGGGGAAGGAATGCTTTCCTGGGGGGTGGTCTATAAACAGCAACTCTGGGAGTGTCTGTCTTACGTGGTTGAGATAAAGACTGAAATACACACTGGTCTCCTACAGTACCCTCAGGCTTACTAGGATTGAGAAATTCCAGCCTGGTAAATTTTGGTCAGACCGGTTCTCTGCTCTTGAACCCTGTTTCCTGTTAAGATGTTTATCAAGACAATATGTGCACAGCGGGACATAGACCCTCATCAGTAATTCTAATTTTGCCTTTGCCTTGTGATCTTTATCACCCTTTGGAGCATGTGATCTTTGTGACTTACTCCCTGTTCACACATCCCCTCCCCTTTTAAAATCCCTAATAAAAACTTGCTGGTTTTGTGGCTCAGGGTCGTCATCACGGTCCTACCAATATGTGATGTCACCCGTGGAGGCCCAGCTGTAAAATTCCTCTCTTCGTACTCTTTCTCTTTATTTCTCAGACTGGCCAACACTTAAGGAAAATAGAAAAGAACCTACACTGAAATATTGGGGGCTGGCTCCCCCGATAAATATCCAATTTTCCTAGCACCCTGTTGAAAAGACTTTCCCCATTCATGTATCTTGGCCTATTTGCTGAAAATCTATTAACGGTCAATGAAGGGTATCTTTATCTGTTTCTGCTGATATAATGAAATACTATAGATGGGGTAACTTATAAGGAACAGAAATTGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGTCATGGTGGCGCATACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGTATGCAGTGAGCCAACATCACGCCATTACACTCCGGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAACAGAAATTTATTTTTCACAGTCCTAGATACTGGGAATTCCAAGATAAAGGTACTAGCATCGGGTGAGGGCCTTCCTCTTGGATCTTCTGGAGGGAAGAAATGCTTGCATCCTCACAGGGCAGAAGACAGAAGGGCAAGAGAGGGCAAACCCCATCCATCAAGCCCTTGTAGTGGCATTAGTTTATTCATGAGGGCTTTGCCAAAAGGCCAAAGGCCTGCCTCCCAAAACTGTTTCACTGGGGATTAAATTCTAACCTATGAATTTTGCAGGGGAAATAAGCATTCAAACCATGGCAAAGGGGATGATTTCTGGACTCTCAGTTCTGTCTTACTGATCTGTGTATCAGACATTTTTCCAGTAGGTCTGGCTACTATAGTCCTTGACCTGATGATGGAGAGCTCCACCCCATTCCACATGATTGTCATGCACGGATAGAAATGGTCCTAAAGCCTCCAGAAGATCTCCTTGACATACTCTTAGACAACATAGACTTACTTCTATTTTGGGATAGCTCCTGTAAATGAATTGTTAAGGAAAACATAATAATGGGTTATGCAATATTTTCTTTCTTTGTTTTTTGAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATATTGGCTCACGCAGCCTCTGTCCCCCTACTCAAGCAATCCTCCCACTTCAGGTTTCCGAGTAATTGGGATGACAGGCATGCACCACCACACTCAGCTAATTTTTTAACTTTTTATAACAACAAGGTCTCACTCTATTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATTCTCCTACCTTGATATCCCAAAGTGTTGGGATTACAGGCATGAGCCATCATGCCTGGCCTAGGCAATATTTTCTCTACATGAAACACTTGAGGCATACTCTTCACTCACTGTAAAATCAGTATGAGCCTAGAGCTCATAGCTCTTACTACATCTTGCACGCTGACAAACAGGAAAACTGCCTCTACTGACACAGACTGCAGATATGCTTTTGGAATTCCTTATGCAACTGGCACAATTTGAAAAATTTGTGGATTCACAACTTGTTCTGGTATACCCACTGCCGATAGACACATAACTGGGCTACTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTGTGTTGCTGGGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCACCACTATGATCAGCTAATTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACCACGCCCGGCCCATAACTGGTGAACTATTACAGATGATTTGCCTCCCTATTAAAATGGCCACTGTTCACTGTCTAGTCCATACTACGGAGATTTATACTATATCTCTAGGGAATGATAGGGCTCAAAAGATTGCTAAATAGGAAGCCAAAAATGGTACCTTGTTCTTTCCCAATCCAGTTTGCAAAACTGCCTTTACCCGTGACTGATATTATCAAGTAAATGTCCCATAATCTAAGAAGATCTATAGATACAAAAGGGAAAAATAGTATTGTAGAGATTATACATTAGGCCAGTCACACTCCCTGTGCTATTAATACTTTCCTTCAATCTTTTCCCTTACACAAATCTCTCACCAAGTTGGACATAGAGGCAGATGGGAAAGAGTTAAGAAAACGAAAGACAACTGACTGGCCTGGCATCTACAAAATTACTGACCCACTTATTTCTCAGTGCATTACTTGTAACCCACCCAATTTCTGGATGAAGCTCACAAATTTCACAGAATCCTCCAACACCCACACTGACCCTCCCAGCCCTCCAAATGGATGGTTTATCTACAACTGTAGTCAATTCTCATTGTTTAGTGATTGTCTCCATGTTTAGTGGATGGGCGCAATGCTATACAGCTAGACATGATGATGCCATCAGTGGTAAATAATTAATCATTGAAATTATTCCTGGTTTTAGTATTCTTTTGTGGACAGAACAAAACCAATGAGGTAATTTTATATGTGCTGCTGAAGCGAGCACAACCAAGGAGGTAATTTTATAGCTGATATAAACCACATTCTTGCAAAAACTACGGAAGACTTATTAAAATACATACCATCCTTAACCATCAGAGCAAAGAGAATATAAAAATCTAAACATAAAAAGGACTTTAGAGAAATAGCTGTCAAAACACTGGACTTCAATGGCCAGAAGCATTAGCCCTGGCCCTTATAAAAATCTGAAATACTACCAACAGTAGACATGGATTATCTCCTTTTCTGTAGTTTTTGGGTTTTGGTTGCACTGTAGCTATTGGTATATCTAAACTTTACATTCCTGGATTGAGTAAATATTCTTGGGAATGAAGTGAACAATATGATGCTATGACTAGCTACATGTAAGAACTAACCAGTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCAAAACTAGTCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAGTTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGGAGGATGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCGACACAGTAAGACTCCATCAAAAAAAAAAAAAAAAAAAAACTAACTAGTATATTTGGAGCATGTCATCAACAGGTTAAAAAAAATGCCATCACTTTTGACCAAAAGATAAGGTATTTCCAGGTGTGGTGGCTCAGGCCTGTACTCCCAGCCATTTGGGAGGCCAAGGTGGGAGGATAACTTCAGTCCAGGGGTTCGAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCTGTAAAAAAAAAAAAAAAAATTAGCTGAATGTGGAGATATGTCTCAGTAGACCTAGTTACTCAGGAGACAGAGGCAGGAGCATCACATGATCCCAGAGTTTCAAGGCTGCAAGGGGCTGATCATGCCAGTGCACTGCAGCCTGGGCAACAGACTGAGACCTTGTCTATAAAAAAATAAAAATAGGTCAGGCACAGCGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGCTGGATCATTCAAGGTTGAGAGTTCGAGACCAGCCTGGCCAATATTAAACCCCATCTCTACTTAAAAATACAAATATTAGCTGGGCATGGTGGTGGACGCCTATAATCCCAGCTACTCGGGAGTCTGAGACATGAGAACCACTTGAACCTGGGAAGCAGAGGTTGAGTGAGCCGAGATTGCACCACTCCTCTCCAGCCTGAGTGACAGAGTGAAACTGTGTCTTCGGAAAACAACAACAACAAAAGAATATTATTCAGGCATAAAAAAGCAATGAATTACTGACATATGCTACCACATGGAGGGAACCTGAAAACATGCTAAGTGAAATAAGCCAGACACAGAAGGACAAATATTGTATGCTCCACTTATTTATTTTTTTGATTCGTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCATGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGTTAAGTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCATGCCGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCTAGATGCTCCACTTAGTCAAATTCACAGAGCAAGAGAGTAGACTAGACGTCATCAGGGATTGAGTGTAGAGAAGGGAAGTTGTTTTTTAATGGGTACTGAGTTTCTGTGTGGAGCGATGAAAATCTAGAGATAATTAGCTGTAATGGCTATAACACATTGTAAATGTATTTAATGCTCCTGAATGACACACTTAAAAATGATTAAAGTGGAAATTTTATGTTAGTACATGTTACTTCAAGACAATTTATGAACAAAAGAAAAGACACAATTCAAGCTACTATATATGAACACAACAATATCTAGAAGCACTGGATGGAGGTTGGTGTGGTGGCACATGCCTCTAGTCCCAGCTACTCAGAGCCTGAGGTGGAAGGATCGCTTGAACTCAGGAATTCAAGCCCAACAGGGGCAACTAGTAAGACCCTGTCTCTTAAAAAATAATAATAATGATAATAATAATAATAATAATGCACTGAATGGACAAAACAGCAGAGGAGATATTGCTGAAATAAAGATAAGTGAACCTCAAAAACTAGGAGTATAACCGATTTAAAATATAGCACTCAGACAAAAAAATGAACAGAACCTCAGTGAGCTGTGTAATGGGACAATTGTACAAGGACTCCTTGAAAGACAGGAGTAAAAACAGAACAAACAAAAAATATTTCCATAAATATTTCAGGCCGAGCACAATGGCTCAGGGGTTTATTGAGCTTTTTGGATCTCTAGGTTTATAGTTTTCATCTAATTTGGAAAATATTTGCTGTAATCCCAGCACTTTAAAAGGCCGAGACAGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCATTTGAACCTGGGAGGCGGAGGTTTCAGTGAGACAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAACAAAACAAAACAAAACAACAATAACAAAACTAGCAGTAACAATATGTTTTACACAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAAAATTAAAAATTAGCCAGATTGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCTTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCAGAGCTTGCATTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAAAAAAAAAAAAAAATTAGCCAGGCATGGAAGCTCACACCAGTGGTCCCATCTACTCAGGAGGCTGAGGTGGAAGGATCACTTGAGCCTTGGAGGACGAGGCTGCACTGAGCCATATTCATGCCACAGCACTCCAGCCTGGGTAACAGAGTGAGACCCTGTCTCAAAACAAACAAACATTTGTCGCATATTTTCCAAAACAGATAAAAATTATGAACCTACAGATGCAAAATGCTCAACAAACCACAGGCACAATATATATCAACAAATCTACACCAAGACACAGCATCAAATTGCTGAAAACCAGGTATAATAAAAAATTCTTTAAAGAAACCAGAGAAAATAGACACCTTAACAACAGACAACCAAATGTAACATTGATTACATACTTATTATCAGAAACAATGCAAACAGGAAGACAATGGAGTAACATCCTTAAAGAACTAAAAGAACAAGGATATCAACAAAGAATCTTATATTGAGCAAATAATATCTTTCCAAATGAATGGAAAATACTTTATTTAGTCATAATAAATGTGTTTGCAATCAGCATATTGGCTCATTGAGAAAGGTACAGCCGGGTGTGGTGGCTCACGCCTGTAACCTGAGCATTTTGATAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGATTTCAAGATCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTATAAACACAAAAATTAGCTAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGGAGGATGCAGTGAGCCAAGATCGTGTCACTGCACTCCAGCCTCGGCGACAGAGTGAGATTCCGTCTCAAAAAAATAAAGGTCCAGCTGGGTGCAGTGGCTCATGCCTGTAATTGCGACACTTTGTGACGCCGAGGCGGGAGAATTGCTTGAGTCCAGAAGTTCAAGACCAGCTTGAGCAACACGGCAAGACTCCATCTCTACAAAAAAATTAAAATGGCATGGTAGTATGTGCCCGTCCAGATCACTGAATCCGTAAAAAAAGAAAAACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGTCGAAGCAGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACAAACATGGTAAGATCCCATCTCTACTAAACATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGACGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGAAAGCAGTGAGCCACGAGATCATGCCATTGTACTCCAGCCTGGGTGAGACAATGAGATTCCATCTCAAAAACAAAGGAAAACAAAACAAAAACCAAACAAACAAAAACCAAACTGGCTGTCTTACTACTGGGGTGGCTGAGTAAGTCCTCTAAACTACTATTCCTATCAAATGGTCCTTGGACACACCCTTAGAGTTTTCTCTTCCCAAGATGATTTTTCATCTTGGTAATATGGATAGACTGGGAATTTTCCAAATCTTTTTGTTTCAGTTCCATCTTAATAATTCCATCTCCAGTCAAGTCTTTCCTCACATTAGTATATGCAGTCAAGAGGAACCAAGCTGCCTTTTTCAACACTTCTTAGAAATGTTGTCAACTCAATATCCAATTTCATCACTTCCTAGTTCTACTTTCCACAAAACTAGCACAGGACCACGATACACAAAGTTCTCTGCCACTTTATAAGAAGAAATCAACTTTTCTCCATTGTGTAATAACATTAACCTCAATTCTCTTTTTACATATATTTTAGTTTGTTTCAGAAACAGGGTCTCACTCTCTCTCCAGCCCAGGCTGGAGTGCAGTAGCATGACCTAGCTTACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCTGGTGACCTCAGCCTCCCTGGTAGCTATGACTACAGGCATATACCACCAAGCCTAGCTAAATTTTCCTTTTTTCTTTTTTTGTAAGGATGAGGTCTCACCATGTTGCCCAGACTGGTCTTGAACTCCAGGCCTCGGTTGGGCATGGTGGCACACACCTGAAGTCCCAGCTACTTGGGAGGCCTGAGGCAGGAGGATCTGTTGAGCTTAGGAGTCGGAGGTGGCAATGAGCTATAATCACGCCACTGCACTCCAGCCTGGGCAACAAATTGAGATCCCCATTTCCAGGAAGGAAGGGAAAGGAGAGGAGGGGAGGGGAGGAAGAAGAGAAGAGAAGGGAAGGGAAAGGGGAAGGAGAAGGGGAAGGGGAAAAGGAAGAGGAAGGGGAAGGGGGAAAATCCAAGCCTCAAGCGATCCTCCCATCTTGGCCATTCAAAGTACTGCCATAACAGGCATGAGCGACCATGCACATTCCACTTTCATTTTTGAGGATCCACTCTCATAATCTAACCTAATCCTTATCATATCTCAAAGAAACCATTGCCTAATACTGCCACATCAGGGAAGTGGAAAAATAAATAAAATTTTCTACAAACATTTATTCCATAACAAGTGATTAGTAGCTTTTTATCATTTTCTAAATACTCTTCATGTTAATCCCTTATCAGATATATAATTTGGAAATGGTTTCTCCCATTCTATGGGTTACCCATTTACTCTGTTAATATTGCCTTTTGATGCCAAAGGTCCACAAAATCCAAATTATTCTTTCCCTTGTGGGTCATGCTTTTGGTGCCAAATCTAGGAAATCATTGCCAAATTCACTGTAATACAGCTTTTGCCATGTATTTTCATCTAACAGTTATACAGCTAAGATGGACACTCACATATTTCGTTCATTTTAACTTCTGTACATGTTAGGTATGGGTACAACGTCATCCTGTTGCATGTGGATGTGCATTGCCCAACAGCATCATTCTACAGAAACATTAAGCTATCCCCCATTGAATAGTCACAGCAGACTTTTCAGTAATTGTTAGACTTTATGTAAATTATTAGACTTTATTAGACTTTCTGTGTTATCTTGTTGCATTGTCTATTTCTGCGTTATTACGCTAGTACCAAACAGTTTTTATTAGTATGGATTTGTAATAAGTTTTGAAATCAGGAAGTGTGAGTTCACCAACTTTGTTCTGGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCTCAGGCTCAAGTGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACGCGCCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGATGCGATTTCACCATGTTGGTCAGGCTAGTCTCCAACTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGCGGTGGGATTACAGATGTGAGCCACCACATCTGGCCATTGTTCTGGCTTTTGAAGACTGTTTTGTTCATTCAGAGACCCTTGAGATGTCATATATAAAAAAATAAAAAATGTTAAAAAATGGCTCCTAAGAAGGAATCAAGTGGTCAAACCTATCCCTAAAAGGCTAGCAGGGGACAAAAAGTGGTATCTCTCAATAAGAAAATACAAACCTAAGATGTTTTGAAAAGTGGTGTATCACCTTGGAAAGTTCGTCATAAGGTAAGAACAAACCAAGAAATCACACACTAAAGCAGAGAGAAGCTGAAGTTCCTCAAAGTGTTAGAGCTGCCCCTACAGTGGCAAAAATGATCCCTCTAGTTCATGATAAACTAAGGATAAGCATTAAGTGTGTGGCTAGAGGACACGTCACAGAACCACAGCCCTACTGATGGTAACATCATACTTGAAAAAACACTTAGCCAGGCCAAGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGATCAGCCTGACCAACATGGTGAAACCCAGTCTCTACTCAAAAGACAGCTGGGTGTGGTGGCGCGCACATGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGGGGTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAGCAACACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAGAAGGAAAGAAAGAAAAGAAAACAAAAAACACTTAGCCTCTGTAAGCATCACTGTGAGGGGGCTGAGGAGAGCAAGAGGAAGGAGTTTGAAGCCAGTAAGTTCTGGCTAGGCTAACTATGCAACACAGTGCAGCCCAAGAACTTGAAGACCACAGGAGAATTGGCATCGGCTGATGCCAGGGAAACAACAGCATTCCTAGAAGAGCTCATAAAACAGAAAAAAGACACTACCTTCCAGAGTAAATCTTCTATTGTCATGAATCAGGCATGTTCTAGAAGATGCCCAATGGTACCTTCATACATGAGTGCAGGTACTGGGGTTCAAGGCCTGGAAAGACCACCTTTTTCTGGTGCTGTCAGGCCATGCATTAGTTCATGAGAACAAGCGAGGCTTCGTCTACTGAGCAATCACCAGGTTCTTTAGGACAAAAGCAAAACTTGCTGGCCTGTGTCCTGGCAAGAACATAAGAAGGCTTTCTTCTAGCAATGCTTCACTCCTGATGTGATGGAATACCTCAAAGAGAAGGGACTGCCACTCAAGGTCTTCCTCAGAATTGACAACACTCCAGGCCATCTCTCCAATCTCTGTTTTGCCTAAAAGAACATGCAAGTGATATTTCTGCCTCCTAAAACTACATCACTGCTGCGTCACTAGATCAAGGCATCAAGTGCATTCAAGTGACTTACATCCTTGGGTGAATTCATGGAGTCTTGATGCTAACCTTGAATGTACCACAGTGGTTTTATTGAAGAGCTTCACAATTACAAATACAATTGTGCTTATTGGGAAGGCTACAGATGCCCTAAAGCCCAGGACAGCCAATACATGTTACAAGCCATCATGGGGTAAGGGAGTCAATGATTTCAAGGACTTCCCTACTATTAATGCAGTTATTAAGAATATGTGAAATGTTGCAAAAAAAGTTGGTGGGGAACGCTGTCTGAAATGACTGAGGATGACGTTAAGGAACACACCGAAAAGCAAAGAGAAACCCTTACCAGCTAGGAACTTCAAAGTCTGCTGAAATCCACTACAGATGATGATGAGCTAGAAAACTTAGAAGACACAGAGCCATTGATTTGGACACTTGAAAAGTTTGCCACAGTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTATAATGGAACAAAGCTTTCAATCTACCTGAGAAACAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAGCTAAGCATCTGCAAATAAGACGGAACATTCAATGGTTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTACAGTGGAACAAAGCTTTCAATCCACCTGAGAAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAACTAAGCATCTGCAAAGAAGATGGAACATTCAATGGTTACAGATCTTCAGCCCTCAAGCCAAACAGATCCTAACATTAGTATTACATAGCCTCCTCAAATGAGTCCACATCTATAATCACAAGTTGGTTCTTCCAACATAGATGATAGTCCTGATGGCCTGTCAAGATTCAAGTTAACCTGATGTCTCACTACTTACCCACAATGCCATACATCTAGTCATCTCAACACATCAAAACACTGGGCACCACAGAATCATCATCATTGTTATAATCACTATACTTGGGTTATCAAGAGAGAAGACCCAGGGTTTTGGTAAGTGTTAACACATTAAACAGAAGAAATAGGTGAGAGTTGAAACAAAGAAACTTTAATGTTCTGGCTGACTACACTATGTTGATAGGCTCACAATTACTGCATCTATACTGAAAATACATAGACTCTTTTCCTTATCATGATTCCCTAAACAATACAATAGAACAACTATTTGCATAGCTTTTATAATGCATGAGGTATTTTAAGTAATCTAGACATAATTGAGACTATACAAGAGGATGTGGGTAAGTTACATACAAACATGTCATTTTATAAAAGGGACTGGACATGGCTCACGGAGTGCTGGAACCAATACCCAGCAGGTATCAAGGGATGACTGTACTGGAAAGAAACTGAAACTACTTAAGGCTTTACCAAGTGCTTACATTCACAGGGTCTATCTCCAATGTGTTTCGTACAAGTATCTGAAATGAAATAAAATTAATAAATGCTTTCCCACATTCCATACATTTAGAGAGAATGCTAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATATGGGTTCTCTCCAGTGTGAGTTTTTTTCCAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATACGGGTTCTCTCCAGTATGAGTTTTTTCATGTCCTTGAAGAAAACGGGAATGAGTGAAGGCTTTACCACATTGTGGACATTCATAGGATTTCTCTCTCATGTGAATTCTTTCATGTCGTAGAAAGCAAGTGAGCCAAGAGAATGCTTTCCCACATTCCTTACATTCATACGGCTTCTCTCCAGAGTGAATTCTTTCATGTACCTTTAAGTTATCATAATGACCGAAGGCTTTCCTACATGTTTTACACTCATAAGGTTTCTCTCCTGTGTGAGTCCTTTTATGTCGAGAAAGGTATCTGAAACGACTGAATGCTTTCCCACATTCCTTACACTCATATGGCTTCTCTCCAGTGTGAGTTGTTTTGTGATTTTGAAAGGAACAGAAATCAATACAGGCTTTCCCAAGTTTGCATTTATAGGGTTTCTCTCCAGTATGAGTTGTTTCATGCCTTCGAAGGGAACTGGAAATACGGTAGGCTTTGCCACATTGTTTACATTTATAGGGTTTCTCTGCAGTGTGAGTCCTTTCATGTCTTTGAAATACACTGGGATAAACAAAGGCTTTCCCACATACCTTGCATTTATGAGGTCCATCTCCAGTGTGCATTATCATATGACTTCGAAAGCTTGAGCGATGAGATAATGCTTTCCCACACTGCTTGCATTCATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGACTTTGCAGTGAACTAGGACAATCAAAGCCTTTCCCACATATCTTACATTTATGAGGTCCATTTCCAGTGTGCCTTATCATGTGTCTTTGAAAGCTTCCCAGATGATGAAACGCTTTCCCACATTGCTGACATGCATAGGGTTTCTCTGCACTGTGAGTGGTTTCATGTCTTTGAAGGGAACCGGAAACACTGAAGGCTTTCCCACATTGTTTACATGTATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGTATTAGACAAGAACTGGAATCAGGGAAGGCTTTAGAACACTGCTTACATTTATATGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGGAAAGGCTTTAGAACACTGTTTACATTCATACGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGAAAAGGCTTTAGAACACTGCTTACATTCATATGGTTTCTCTCCAGTGTGCGTTCTTTCATGCATATGTAATAAACTGGGCCAAAAAAACGCTTTCCCACACAACTTACATTTATAAGGTCCATCTCCACGCTGCACTGCCATGTGTCTTTGAAGGTTTCCCAAAGAACTGAAGGACTTCCCACATTCTTTACAATCATATGGTTTCTTTCCAGTGTGAAGCCTCTCATGTGTTTGAAATGAGTTGTGGTAACTGAAGGCTTTCCCACGTTGTTTATGCGTATCTGGCTTCTCTCCACATTCATGATACTCATGTGGTTTGTGCCCAGCACCAACTCTGATGTAACAATTAAGGGATGAATGACCCATGACTTTTTCTCCTCTCATACTGCTTTCACAAGGACCTACTCCAGGAAGAGTGTTCTTGGTCACAATACTATCTTGAATCTGGCTAGATGTTTCTCCACATTGAGTTCCATCTTTACTTTCAACAAATCTCTCTAACATACGACATCTGTAAAAAATGGGAAATATATCACTAAAAGTCGGTCTATAAATAATTGTATAGGTATTAATAAGTATTGGATGTACATTTTTAACACTATCATGCGAAGTGCAGGCTTCGTGTCCTGCTTGAATGTGAATGGATGGAATGCTGTGCAAGGTAACTCGACCCAGGTGTTCTCAAGACAATCACATTCATATGTGGATTCATAATATTGTTGTCATGGGAACTAATTTATGAACACTGAACAGCTATGGAACATTTAAGTATATATTTTGGAGAAAATTTTCTAAGAATAAATAAATTTAAGCTAGCCTTGTTCATTTTCTTTGCTTCTTTTTAAATTTTCATGTCATTCTCAGAACGGCTCCAGGGACATATCTTTCTCTTGTGAGTGTAAATTACCTTAGATTTTTCCTGGGATATCTATATTGATCTTCAATGTTCTGGTCTTTCCATTTCATTACTAAAAGGTATACACAGAAAAATCATTACAAATTTTTACAAAATTATAGACAAACAGTAACATTTTGATGTACACTGCAATCGTTCAAAATGCATTCACTGAAGTACACCTGACTCTTGAAAAACAGAGGTTTGAACTGCACAAGTCCATTTGTATATACATATATATATGAATGTTCTTCAGTCTCTGCTACCCAAGACACTAAGACCAGCCCCTCCTCTTACTCAGCCTACTCAATGTGAAGACAATGAGGATGAAAACCTTTCCGAGGATGCACTTCCACTTAATGAACAGTAAATATAGTTTCTCTTCCTTATGATTATCTTTTTAACACTTTCTGTTTCTAGCTTACTTTACTGTGAGAATATACGATGTAATAATACGACATAAAATATATGTATTAATCACTGCTTATGTGACTGATAATGCTGCCCATCAATAGTAGGCTAAGATGTGGACAAAAAGTTATATGAGGATGTACAACTGCTACAGGAGCTGGCACCCCTAAACCCTGTTTTTTTTTTTCCAGGGCCAACCATATCCCCT	.	.	.	.	.	.	.	.	.	.	.	.	.	127	39	135	0				ENST00000595562	.		.		.	.	.	.	.	-	.	protein_coding	YES	.	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATCCCCTTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGCCTGATCCATCCCACATGTACAGAGGAGGAAGGGTGAAAATCACAGTACTGAGAATCTATACTCACTTCATAAATTTCACATGATGCTGTGGTTTCCAACCATTTTATTCAATGACATGGTAAACCCACTCTTATTCTCTGTCTACACTCACTTTCTCCTACACAGTAACTCTGAAGCTACAGTTAAACATGTTTGGTAAATTAACAGTGGGATAGAAACATGCCACTTGTTGGCGAACTGAGTGAGTGAATCACATAGCCTGGATCACCCCTAATGTTGATTTCCACAGTGGGTCTGCAGTCCTTGGCACGATAAAGTCCTACTACTTATTGTGCAAAAGGGAGTTACCATTAGCAGTGCTGAGACTGTGTGTCCTTACAAATGCTTTTTCACAAAGTTGGGCTTTTCATGGTATCTAGACAGTGTATTTAGGGGAGGGCCCCAGGAGCGTAACTAATAATAGGGGTGGAGTGTGCCTAAATTGTTTACGCAAAAAAAATACAGTATTTCCTTAACCCCATCTTCCTTCTGAGAGTTTGGAATTTTGTTACATACTCAGCACAGGGAGTGCACCTGATCAGCCACTGCTAGGTTTGAATGGTTGTCCCCTCCAAAATGCACACTGAATGTTAATCTCCAAAGTGGCAGTAAAAAAAAAAAAGTGAGGTTTAAGAGGTGATGTAGTCCTAAGGGTTTGGACCTCATGAATAGATTAATCCGTAACGGGTGAATGAATAAATGAGCTATCTCATGTCCTTCTGAGAAGAGTAAGAGATCTGAGCTAGACACTCAGCTCCCTCACCATGTGATACTCTATGCCGCCTAGGGACTCTGCAGAGTCCCCACCAGCAAGAAGGTTCTCACCAGATGCCCAGCCTTAACCTTGGACTTCCCAGCCTCCAGAAATGTAAAAATTAAATACTGTTTCTTATAAATTACCGAGGTTCAGTAATTCTGTTATGAATAACAAGAAACAGGCTAAGACAGCTACAAAGAAACACTCTGGGCATTGGGTCTATAATGAACTTTCTGGGTAGATAACATTTCACGTTTTGTTGCAACTTGTTATTTGGGGGATTTAGCCCATCCTATGTGATTATACTTACAGAGAATATTTGGAAGCTGGCAACTAGTTTCCTTTAGATCAAATGTACTGAAGTATGACAACAGACTGAGAAAAGATATTACACCACCTCAAAGGAAAAATTTTAAACATTTTGAGTAACGCCAAAGGGGAAAGAAAGAAGGGGAAAGACTGCACATATTCTTAGAAAGAACTCAGTGTCATCTCTCATGAATATTTATAATACTTACTAAGAAACTAAAACAAATCTTTTAGTAGTCAACAAAAATTACATTACCAAATCTAATAGAACTCACAGTATCTAAAAAATGCTGAAAGCCTTCTCACCAAGAAAGTGCAGCATTCCAAAAACAAATAAAGGATTTTATTTGGCACCCCGTACTATTAACAGAGAGATAAATATATATATAAAGAAAAATGAAAACTGGTAGAAAAGTCTTGTGGAGCTTTTATTTGTCCTTGGCCCAATCCCTCCCCCTATCAATACCAGTCTTGAACACAGCAGCCTGAGTTCCCGGTATAGAACCCTGGACACTAATTCTAGAGACAGCATATCAGATCTTATTTGCAAATTATTGCCTTGCATTTTCCAATCTGTATAAGGACTATCCCGAGGTCTGAAACAAAGCTGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGCCACACAACCTTGGCTCACTACAACCTGACTCCCGGGTTCAAGTTATTCCACCCAGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCATGCTCCACCACATCCGGCCAACTTTTGTATTTTTACTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCGCCTGCCTTAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACAGTGCCCAGCCAAGGCCCTCTCTTCTACTTTATCTACAATACAACACGATCAGGGTCCAATTTGGCAGGAACTGCATGAAAATGTTGCAAAATACACAAAAAGCCTGTAGCCAACTGGAAGAACAGACTATGATTAAGACATACAGTAGACCAACTAAGTCATGGAGAAAAAGAGCTGAAGAGAAAATGTCCTCCAGATATCAGGGTACTCAAAAGCACCCAGGTATCCTGGGGAATTGAGAAAGCCCCATGCATGCACAGTAAAGAACACATTTTCACAAAAGACACCGGAGAAGAAACCCTCATTTTCACTTCTGGCTGATCTGTAGCTTTAAGTAAGCAGAACATAAAGCATAAGTAGAGTATTAAACAGCCTGGCTAAGTGTTCAAGGGATGCCCCAGGCACAGAGCCATCCACAAAGACTGGAAGAGGTCAGGCTTTTGTATGCTTTATCTTTTTTACTAGCTTCTAGCATTCAGGAAATCTCTGCCAGAACACTGGATGAACACACACTAAAGAACAGAGATGTCAGTTTCTACAACAAATAAGGAATACAGTCTGTGCAAACATACTTTGAAAATGTTATTAAACAAATGAACAATTACAGTCTTCAACACACATAAACAGAAAACAGTGAGGAAAGAAGAAGAATCCAATTTTCAGAATTACCCCATTATAACATTGAGATGTCTACTTTTCAACACAAAATTATGAAGAATACAGAAAAACATGAAAATATGGTTCATCAATTGGAAAAAATATAATTGAGATAAGCCATCTCTGAGAAACCTCAGACACTGCACTCACTGAATAAAAACGTTAAAACAACTATCTTAAATATGTTCAATGAAGTAAAGGCAATGATGAACAAATAACTAAAAGAAAACCAGAATACAGATATAGAGATAAAATAATATCTATTAAAAAGTAGAAATTAACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGTGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCCTATCTCTACTAAACATACAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGACGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCAACAAGAGCGAACCTCTGTCTCAAAAAAAAAGGGGTAGAAATTTAGCCATATAGAATTTATGCAGCTGCAGGGTACAACTAAAATGAAGACATCATCACAAGTGTTCAAAAGATGTGAGCAGCCAAAAAAAAAAAATCAGTTAAAATGATGATAAACCAATTGAAATTAATCTAATGGGGAAAAAAAAAGGAATGAAATTGAGAGAATGTGTTACTGGTGTACTTGTCTTGCCAATAATGTTAAAAGAAGTTCATCAGAGAGAAGAAAAATGATACAGGTTAGAAACTCAGATCATACACACACACACACAAACACACAAATATATACATATGCATATATATGAAGAGCATTAGAAAATAATTCAATGAAGGCACAAAAATTATTTCCTTTTCTTATTCCTATTGGATATCATAAAGGTTTGTTCAAAAAATAATATCAACAATGTATTGGGTGGTTATAGTTTATAATAGGGCAAATGGATGACGGTGATGTTAAATTGGGTGGGAGGGAGGAATGCTGAACACTGGGTTATATAAGCATTACCCCAAAAGCCAGTACAGTGTTACTTAAAACTGAAGGTCCATTTGTTGTGAATGGTTTACTCCAAATGCTAGGGAAATCAATAATAAAATGTTAAGAAACAACAGCCTGTCACAGTGGCTCACCCCTGTAATGCCAACACTTTGAGATGCAAGACAGGAGGACTGCTTAAGATCAAGACTTTGAGTCCACACTCGGCAACACAATGAGACTCTGTCTCTAGGAAACGTGTAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCCTGCACCTGTAGTCCCAGCTACTCAGGAAAGCAAGTAGGGAGGATCTCCTGAGCCCAGGAGTTGGAGGTTATAGTTAACTATGATTGCTCCACTGCACTCTAGCCTAGGTGATAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAAGAAACAAGTAGACTTACCATACTATTAGAAGAAAATACAATCATATAGACTCCTCAGTTAAAATAAAAGGAGACAGAAAAAGGAAGTTGAAAAAAACCGACAAGTATAACAAATGTAAAACAATTATATATGTACATATGAATCCAGGTATATCAATAACCACTTTAAATGTGTATTATATGAATATACCAATAAAAGAAGACAAGGACTGACACAGTAGAAAAAAAACAAGATCCACCAATGTGTGCAAGAAAACTATTTTTTTATTCTCTCAAGAAAACTATTTTAAGTAGAAAGACACAGGTACATTAAATATAAAGGTATGAAAAAATATACTCCATTCTAGCCCTAATCAAAAGCCATATGGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAAGCTGGTGGATTGCCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGCGAAACTGTCTCCACTAAAAATACGAAAGAAAAAAAAAATTAGCCAGGCATGGCGGCACGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGACAACAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGGTCTTAGCTGGAGGTGGGGGCATTGGCCTCAGGCCTCTCTGCCATAGTCAAAGCTACTCTCTTACCCTTCTATGCTTTACATGGATATTTAAAAACAAAATACTCATGTTTGATGAATCCAGGAAAATCACTCAAATTCAGTGTTTATGTCTATGGGTGGGAAGGAAATTGTAAGGCACTGATATTTTATACCTCAACAGGAAAAGCCCAAATACCTATCCCTTCCAGACAATGAATGTCATTTAATTACTATTTCCATGATAGTAAGTGATACAGTTAAAAATAATTATATTTTACTTCTTTAGCTGTTGGAAAGTCCTGTCCCACAGAATTTAGCATTCATCTGTCAAACCCATATAACAGGAACAGAACAGATTTCTCCATTGTCCCAAAATCTCCACCCTTTTAAAAAGGAGAACTGAACTTTTGTTAAATCCTTTTAATTCAATGTACCTACTACACTTTCTTGTAAAAATGTATTCCTTTTTTGCAGCCATAATGGAAGAGGGTTTTTTCCTTGGTAGTAGTTATACTACTAAGTCCTGAAATTCCATCTGAAATCATCCAAAAAACAAACACACCTGAGAAACATACTACACAAGCTCTGGGGCAAAAAAAATAAATAAAGGTTTTTAAAAAATGGAATAGAAGATTACATATACCATTTATATTCTGAAATCCAACTCTTTCTAGAATTACTTATACAATTTATTTTCTGAAGTCCAACTCTTTCCAACTTTGGGTATACTTTGTCTTCAAAGTATACAATAACAATCTCTAATCATAGGATGTATTTTAAGGTTAATCAAAAATTTAGGCTGAAAAGAGTAAACATATCTTTTCAAGCTAACAAACTCAGGAATCAGCAGTGCTGACTGGAACACAGAAAAGTCTAATGCAACAATCAGGGTGGGTCATCCTATCACCTGGGACATCCCTTAACCCTATTCTGGTCATCACCCTCCCAGGAGACACTGCCTTGTGTGCTTTTCAGGATCTTGCACTACCTCAACGGGCAGGTTCTCCAGTCCTTAGATATAACTTTCTACCTTTTAAGTCTGAGAGAGTCCAGAAGGCAAAAATCATTTCTGTTTTTTTTTCCTATGGAATATGACCATGAAATTGGCTGTTCAGTCATGTGTCTCCAAGGAATGGAAACTAGGGTTGGGAAGAAAAGGTGAGTGTCCCAGGAGTTAGCTTTTTACAGGAATTATATACCAGAAGATTCCTCCCATCCCAGTGGATCCAGTTGCTCCCCAGGGGGCCACACCCCCCATCTCAGGCTGTCCCCTGGGAGGAGTGACCCAGGGGATGATATTCACTAGACCCTCCAAGAGACTTGGCAGCTGTGGACACCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCGGCCTCTGTTGCCTAGGCTGGGATGCAGAGGCACGATCATAGCTCACTGCAACTTCAAACTCCTGGGCTCCAGCCATCATCCCACCTCAGCCTCAGGAGTAGCTGCGACTACAGGTGCCAGCTACCAAGCCCAGCTAATTTTATTATTATCATTTATACTAGAGACAAGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTACTAAGATTAAGCAATACCTCTGCCTTAGCCTCCCAAGGTGCTGGAATTACAGGAATGACCCACCGTGTTCAGGAACCCAAAATAATTCTTTCAAGAAAAAGCCATACATTGCTAGCTGAAAACAAGATGACAAACTAGTGAAATATCGCCTGGGGGCCAAACAGTTCATACCGTTGCTGTGAATTAAGGACAGAAGGTTAGCCTGGGGAAGTCTCTGGAAACCAAGAGATTTGCTGCCAGCCCTAGGAGGAGTCAGGATGAGAGAACACAGTGGTGGATTTGAGACCCTGCTAACCACATCTTTGGAAGACTCAGAGGGGAAACGGTCGCCCTTGGAAAGAAAGAAGGGACTGAGGACCACGGAGACCACAGCTCCTCCCACACACAAACCCCACACACGAGTCTGGATTCCACCTGGTGACTCGTCGTCACCGTGCAGCCTCCTCACCGGGTTCACAGGAACTGCGAGCCAGGCTGGAGGCGAGATTGCAGTTAGATATTAACCAGGTGCCCTCAGCCCCGCTGCCTCAAGGGGCCGCCTCCCTGAGAGTCAGGTCACAGCAGACGCTGACCGCCGGCTTCCCCATTGTGCCTGGGGATAAGATCTCTGAGAACTGCTCAAGAGTCGCCGGAGTTCTCAGATCCTGAATCCCAGCAAAGGCTGGCGCCAATCAGGTTGAAGTCCCAACGAGGGAGCCCATTCAGCAGAATGCGGTTTCTTCACCTCCTGTCCCAGGATTCACCCCTCACTTCCCCACCAACCAACGACCCTACACCCAGCCGCCCCCGTCCAGACCCCAAATCCCTCAGGGAGGCGGATCTGGGGTGTCCTCCCCTCTCTGGCTATTAAACTGTTTCTGCTGCAGCCCTCAGCGTCTCGGTGCAGTGAGTCGGGCCGCGAACCTGTGTTGCTTACAGCCGCACAATCTCGGGAGACGCGAGGCTGCGGGCGCGGAGCTGCCCAGAGAGGGCGCCGGGGCCGCAGTCGCCGCGCAGGAACGGGACAGGACGCCCGGGGTCCCGGCTGCATGCCCAGCCCCACCCTGCGGCCGAGGGCCGACCTACGCCAGGGGAACCCGGGTCCGTAGATCCCGGAGTAGCCCTTGGGGAGGCCCGGGTCCAGCCACAGCCGATTACTGCAGGTTCCACCCAGCCCCTCCCCCGCCTCGGGACGCCGGCCCAGCACACGCACCATTTCCCGACTTCCGCGGTGTCCCAGGTCCTCCGGACGGCTCCCGCTGCCAATGCGGGTTCCCGCGGGACACAGGCTGCCACGGAACTTCCAGGTCGTCTCTTAGCTACAGAGCCGAGCACCGAGCGCCCAGCGCAGGTGGGTGGAGAAGACGCCGCGGGCTTTTTCAACCACACACTCCTCTGGGAAGCGCGCCTGATTGACAGTTCCCACGAACCCGCCCCACGGCCCTTACTGGATACGGCGTCAGGTGCCGCCCCTCGTGGACTGATTGACAGAAGAAGCGATCTTGCACAGCTGAGTGGAGCCAGATGAGCAAGTTCCTGACACAGCCCTTGGCAGGGCGGGCTTCCTCCCTGCTCTTTGATCTGAATCCTCCCGAGGGATATTTGCACTTAAGCGGAATTTCCTGCCTGTACTCAATAGGACCTCCTGCTTCTTCCTCCTGTACACTGACTGACAAAACAATTATACTTTTTTTTTTTTTTTTTTTTTTTTTTCCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGTCTTGCTCCGTGGCTCAGGCTAGAGTGCAATGGTGCGAGGCTCACTGCGACCTCCGCCTCCTAGGTGGGTTCAAACAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACACCCGGCTAATTTTTGTATGTTTTAGTAGAGGCCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTTCTGGGATTAGAGACGTGAGCCATCGCGCCTGGCTCCAATTATACTCTTTTTCAATGAAATTTTTCAAAATATTTCAATGTACAATTAAATTATTTTTTACTATAGTCACTCTGTTGTGCTAGCAAATACTAGGTCTTATTCATTCTTTGTAACTATTTTTTATACCTATTAACCATCCCCACTTCCCCCATAACTACTCCTCGCTACTACTTTTCCCAGCCTGTGGTAACCATCCTTCTACACGTTTTTGGTTGTTTGAGATGGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGGGCCATCATGGCTCACTGCAACCTCTACCTCCCAAGCTCAAGCAATCCTCCCACCTCAGCCTCTCAAGTAGCTTCAGATTGTTCACTGTTGGCATATAAAAATGTTACTGATTTTTGTATGTTAATATTGTATCCTGCAACTTTACTGAATTTATTTCTCAGTTCTAATACTTTTTTGGTGGAGTCTTTAGGTATTTCCAGATATAAGATCATATTATATGCAAACCAGGATAATTTGACTTCTTCCTTTCCTTCCCAATATAGATGCCCTTTATTTCTTTTTTTTTTTTTTTTTGGACTTATTGCTCTAGCTGGGACTTCGAGTACTGTGCTGAACAACAGTGGTAAAAGTGGGCATTCTTATTGTGTTCCAGATCTTACAGGAAAGGCTTTCAGTTTTTCCTCATTCATTATCATGCTAGCTGTGGGTCTGCCATATATGGCTTTTATTATGTTAAGGTAGCTGCTTCTATACCCAGTTTTTTTTTAGGGTTTTTATCATGAAGGGATGTTAAATATTATCAAAAGCTTTTTCAGTGCACATTGAAATGATTATATGGTGTTTGCCCTTTATTCTGTTGAAATGATACATCACATTGATTGATTTGCATATATTGAACCATCCTTGCATCCCAGGGATAAAGCCCACTTGGTCATGATGAATGATCTTTTTGGTGTATTGTTAAATTCAGTTTGCTAGTATTGAGTTGAGGATTTTTGCATCAATATTCATCAGTGACACTGGCCTATAGTTTTCTTTTTCTGACATGTCTTTGTCTGGTTTTGGTGTCAAAGTAATATTGGCTTTGTAAAATAAGTTTGGAAGTATTGCCTTCTCCTCTGTTTTGGAATAGTTTGAGTAGGATTGGTATTAGTTCTTTTTTAAATGTTAGTAGAATTCAGCAGTGAAGCCACTGGGTTCTGGGGTTTTCTTTGCTAGCAGACTTTTTATTATGGCTTTGATCTCATTATTTGTTATTGGTCTGTTCAGGTTTTTTATTTCTTCATGGTTCAATGTTGCTATGTTCTATCTGCCTAGGAATTTATCAATTTCTTCTAGGTTTTCCAATTTATTGGCATATAGTTGTTCTTAGTTGCATTAATGATCCTTTGAATTTCTGCAGTATCAACTGTAATGTCTCCTTTTTCATCTCTAATTTTATTTATTTGGGCCTTTCTGTTTTTTTCTTAGTCTACCTCAAGGTTTGTCAGTTTTGTTTGTCTTTTCAAAAAACCAACTTTTTGTTTCATTGTTCTTTTCTATTGTTTCTTCATTTCAAATTCATTTATTTCTACTCTGATTTTTATTATTTCTTTTCTACTAATTTTGGGTTTGGTTTGCTCTTGCTTTTCTAATTCTTTAAAATGCATTCTTAGGTTGTTTATTTGAAGGTTTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTGATGTGAGTTTTACTTCACTCTTGCAGCCTAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACCCACCACCATGTCTGGTTAATTTTTTGTATTTTTAGTAGACAGGGTTCCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAAGCTCAGGTGATCCACTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCGCACCCAGCCTGCAGGTCTTCTTCTTTTTTGATGTAGGTGCTTATATCTATAAACTTCCCTCTTAGTACTGCTTTTGCTGTATTCCATAGGTTTTGGTATGTTGCATTTTCATTATCATTTGTTTCAAGCAACTTTACAATTTCCTTCTTAATTTCTCCACTGACCAATTGGTCATTCAGAAGCAGATTATTTAATTTCCATATGTTTGTATGGTTTCCAGAATTCCTCTTGTCATTGATTTCTAGTTTATTCCATGTATTCTATGACACAATTTAAATTATTTCAATTTTTTTGGAGAGTTTTAAGACATGCTTTTTGAACTAACATATGGTCTATCCTTGAGAATGATGCATGTGCTCGGGAAAAATATGTGTATTCTGTAGCTGTTGGATAAAATGTTCTGTAAATATCTATTAGATCCATTTGATCTATAGTGTAGATTAAATCCCATTTAATCTTTCTTTTGTCTGATTTTTCAGTATATATTGAGATAATCTTTGTCGATTTACTGTCTGGAAGATCTGTCCTGTGCTGAAAACGGGGTGTTAAAATCTCCAGCTATTATTGTATTGGTCTCTCTCTCTTTTATTTTTATTTTTATTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCACGCTGGAGCGCAATGTTGCAATCTTGGCTTACTGTAGCCTCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCTCAGTGCCAGTCTTAAAGACAGCAGCCCGAGATCCCAGTATAAAATCCTACTCACTCAATTATCACCTTTGTATTTTCGAATTGGTATGGGGACTTTCCAAAGGTCTGAAACAAGGCTCTCTGTTCTATATCATCTACAATAACTCAGTCCCTGTCAAATTTGGCAGGAATTGCCTAAAAATGTTGTAAAATACATCAAAAGCCTGCAACCACCTGGTAAAACGGATTATGATTATGACATACCATCTCTGATGGTTAATACTGAGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGCCTCTGTGAGGGTGCTGCCAAAAGAGATTAACATTTGAGTCCCTGGGCTGGGGAAGACAGATCCACCATTAATCTGGTGGGCACAATCTAATCAGCTGCCAGCGAATATAAAGCAGGCAGAAAAACATGAAAAGGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATCAGACTCCAAGTTCTTCAGTTTTGGGGCTTGGACTGGCTCTCCTTGCTCCTCAGTTTGCAGACAGCCTATTGTGGGACCTTGTGATTGTCTAAGTTAATATTTAATAAACTCCCATTTATATATATATATATATCCTATTAGTTCTGTCCCTCCAGAGAACCCTGACTAATACACCATCTAAATCCTGGGGGAAAAAAGTTGGAGAGAAAATTTCCTCTAGTAAACTAGGGTACTCAAAAGCACTCAGGTATACTGGGGAATTGAGAAAGCCCCATGCATGCACAGGAAAGAACACATTTTCACAAAACACATGATAAAACCCTAATTTTCAGCTCTGGCTGATCCCTAGGTTTAATTAAACAGAAAATAAATGCTAAAGTAGGATTTTAAACAGCCTGACTGTGTTTTCAAGGAATGCCCCAGTACAGAGCCATCCACAAAGACTGAAAGAGGTAAGGTTTTTGTTTGTTTCATCTTCTTCTTTACTTTTAGCTTCTAACATTCCAGAAATCTGTCAGAACACTGAATGAACACAGAGGAATAGACATCAGTGTCTACAATGAATAGGGACTACAGTCTCTGCAAACACAGTTTGAAAATGTTACTAAACAAATTACAGCCTTCAACAAACATAAATAGCAAAGAGTAAGCATAATTTTGTTTTGATACAAACAAAATTATGAAGAATACAGAGAAACATGAAAATGTGGCTCATTGATGGAAAAAGTTTAATTGACATAGTTCATCTCTGAGAAACCTGACACTGGACTTACTGAATTAAAACTTTAGAGCCGAGCGCGATGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACAAGGTCAAGCGATTGAGATCATCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTATACCCAGCTACTCGGGAGGCTGAGGCAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATTACGCCACTGCACTAATGTCTGGTGACAGAGTTGGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGGACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAACCAAAAAACTTTAAAATAACCGTCTCAAATATGTTCAACAAGGTAAAAGCAATGATGAATAAAGAACTAAAAGAAAACCAGAAAACAGATGTAGGGATAAAATAATATTAATTAAAAAGTAGAGGCCTGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAAGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTTCTTCTCAAAAAAAATAAAATTAAATTAAAAAAGTAGATATTGAGCCATATAGCATTTATGCAGGTGCAAGATACGACAACTAAAATGAAAACATCACTACAGGTGTTCAACAGTTGTGACTAACTAAAGAAAAACATCTAAAATGAAGACAAAACAACTAAAATTACCCAGTCTGAGAGAGGAAAAAAGGAACAAGGATGAGAGAATGTGTGACTGGTATACCTGCCTTGCCAGTAATGTCAAAAGAAGTTCATCAGAGTGAAGAAAAAGGATACAAGTTAGAAATTTGGGCTGGCTCAGTGGCTCATGCCTATAATTCCGGCACTTTGGAAGACCCAAATGGTAGGATTGCTGGAGCCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAAACTCCATCTCTATAAAAAATAAAAAATTAGCCAGGCATGGTGGTGCACATCTGTGATACAGGCTACTTGGAAGGCTAAGACAGGAGGTTAACTTCAGCCCAGGAGATGGAGGCTGCAGTTAGCTATATTCCTGTCACTGCACTCCAGCCTGAGTAACAAAGCAAGACCCTATCTAAAAAAAAAAAGAGAGAGAGAGAGAAAAAAAAAGAACTAGAACAAATTCTGGTCACACACACACAAACATATATACACAAATACATACAAACATACATATGCAAACTACATAAAATATATGAAAAGAATTAAATGAAGGCACAAGAAAACTCTTTCCTTTTCTAGTTCCTATCTGATGTAATAGATGTTTGTTCAAACTAATAATATCAACAATGTATTGGGTAGTTTAGCTTATAATAGGGCCAATGAATGACAGTGATGTTATCTGGGATACGAGGGAGGAATTTGGAACACTCTGTTATACAGGCACTATACCAGAAGCCAGTATGATGCTTTGTAAAACTAAAGGTCCATTCATTGTGAATGGAATACTCAAACTCTAGGGAATTTACTGGTAAAATTTAAGAAACAATAGCTAGTTGGGTAGCTCATGTGTGTAATCCCAGGACCTTTAGGAGGCCAAGGTGGGAGGATTACTTGAGCCCAGAAGTTCAAGACCAGCATCAGCAACATAGTGAAACCCTGTCTCTATAAAAATTTTAAAAATATCTTGGGCATGGTGGCACAAACTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGTGGGATCTTGAGCCCAGGAGTTTGAGATCACAGTCAGCTATGATTGTGCCACTGCACTCCAGCATGTATGAGAGACCCTGTCTCAAAAACAAAAAAGATTCTGTCTCAAAAGAAAAGAAAAGAAAAGAAAATGAAACAAGTAGTATAGTATAATAAGTCTACTTACTCTACTTCCATTTTCATAAAATTTCATTTCACATAGTAATAGATTTACTATACTAATAGAAGAAAGAAAGAAAATGGAATCATATTAAATGCTCAGTTGGAAGGAAAGGAGGCAGAAAAAAAGAAGTTGAAAAAACAGACAAACATAACACAATTACATATGTACGTAGTAATCCAACTATATCAATTGCCATTTAAACATGTATTATCTATAGATACCAATATAAAACAAAGATTGATAGAGTAGAAGGAAAAAACAAGACCCATGAATGTATAAAGAAAACTATTTTAAATAGAAAGACACAGATACATTAAATACAATGGTATAAAGAAATATATGCCATTTTAGCCCTAATCAAAAGGAATATGGAACAGGCTACATTAGACTCAGATAAATCAGGTTGTAGATCAAGGAAAATTACAAGAGATAGAGATATTTCATAATGATAAAGTGCTCAATCCTAGAGACATAATAATCCTTGATATGTATGTCCAGAAAATAGAGCATCAAAATGCATAAGGTGGCTGGGTGTGGTGGCTCACGCCTGTCATCCCAGCACTATGGAAGGCCGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGTGTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGCACTCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAATTGTGAAACTCCACCTCAAGAAAAAAAAAAAATGCATAAGGCAGCAGTCCCCAACCTTTTTGGCGCCAGGGACTGGTTTTGTGGAAGACAATTTTCCCATGGAATTGCGCTGTAGGGGAATGGTTTCTGATGAAACTGTTCCACCTCACATCATCAGGCATTAGATTCTCATAAGGAACGCACAACCTAGATCCCCTTGCATGTGCAGTTCACAACAGGGTTCGCGCTCCTATGAGAATCTAATACCGCCACTGGTTTGACAGCATGTGCAGGCGGTAATGCTTACTGCCTGCCGCTCATCTCCTGCTGTGCCACCCGGTTCCTAACCAGCTACAGACCAGTACTGGTCCACAGCCTGGAGGCTGGCAACTCCTGGCATACGGCATAAATTTATAAAACTGCAAGGCAAATACACAAATCCATAATTATAGTTGAAGGAGAACAATTCCCCTCTATCAATAATTGATCAATTGAGTAGAAAAATCACTAAGGACATAGCTGAACTCAACAGCATCATTAATCAACTGGATTTAATTCATATGTATTTATAGAATACTTCACTCAACACCAGAGTACACATTCTTCTCCAAACTACATAACATATTCACCAGGATGGACTATATTCTGAGCCATAAAACCTACCTTAACAAATTTAAAATAGATATTCTGTAAAGTATGCAATCTAACCATATTAGAATTAATCTAGAAACCAGTAACAGAAACACAGTTGAAAATCTTCCAGAAAGTCGACATTTGAACAACAAACATCCAAAATACATGAAAGACAAACCGAACTGTCAAGAGAAATTTAAATATTCTGAAGTTGATGAGAAAACTATATCTTAGGGCCAGGCACAGTGGCTCACGCCCATAATCCCAGCACTTTAGAAGGCCAAGGTGGGTGAATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGTGCACACCTGTAGTCCTAGATACTCGGGAAGCTGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAAGTTGCAGTGAGCTGAAATCATGCTACTGCACTCCACCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAACAAACAAACAAATATATATATATACATACATACATACATACATACATATACACATACATATATATACATATGTGTCTGTGTATATATCAATGTCTGTGTGCATATATATATATATATATATATATATATATATATATATATATATCTTAGCCAAAAACACTTTTCATAGAGATGAGATCTATATTCCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTACCACCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAACCATAATGCCCAGCCTTAGCGAAATGTTTGAAATGTAGCAAAGGCAGTGTTTACAGGGAAATTCAAAGAATTGAATGCAAACTCTGGAAAATAAAGATCTAAAATCAATGCTCCATTTTGAGAAACTAAAGTTCCATTTTGAGAAACTAAAGAAAGAACTCCAAGATAAATCACTCAGAGGAAAATTACAATGAGAATATATTAATGAAATTGCAAACAAGATATCAATTAAAAACATCAATAAAATCAAGAGCTAGTTCTTTAAAAAGACCAAGAACATTGCTAAACCCACAGCCAAGCCAACTCAGAAAAAAAAAGGGGGCCATCACTACTATTCCTATGCACATTAAAGTGACCATAAGGGACTATTCAGAGCAATTGCATGTCTACAGATTTGTTTAATTACATGAATGGGCCAATTCCCTGAAAGACAAAATCTACCAAAACTCACAAAATTAGACCCATGTAATACGAACGGGCATAATCTATTTAAAAATTGGAATCACTAAATAACAAATGTCCCAAGAAAAAGGAACCAGACCAGGATGGTTTCACTGGTGAACTCTGGCAAACACTTATGGAAGAAATGACACCAATTTTCTACAATCTCTTCTGAAAAAGAGAAGCAGAGAGAAATCATGTTATAAGGCCAACATTGCCCTTGCACTGCAACTAGACAGATGATACAGACATATCTCCGCCATGTAAGAATATAAAAGGAAGACTGCTATCTGCAAACCAAGAAGCAGGCCCTTACTAGAGACTTCATCTGCTTGAACTTGGAAACCCAGCCTCTACATCTTTGAGAAATGTTTGTTGTTTATGGTATGCAGCCTGTGGTAATCTGTTATAATAGCTTGAGGTGACCACACATCAAGGCTTTGAAGTCTATAGTAATGAGGAGAGTATGGTATTAACCACAATGACTAAAAGAGAAACCAATGGAAAATAGCCAATTCTAAAACAAGATCACCAATTTAAGACACAAGAACCTATGACATGCAGGTATTAGCAGGCAACGATATAAATGGGAGACACTTCAACACAAAAGACAGGGACAAATGGTTATCTTCAAGAGAAAAATCAATTTTCTGCTCATCATCTTCACATACAATAATCAACTCACTATACACCTACCTGTTTTGTGAATTCTTATTCACTTGATATTGCCCCAGTTTCCATTTTGGTTTTTCGTTTTTGTTTTTTTTGAGGCAGACTCTCACTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGATGCGCACCACCACACCCCGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTTACCATGTTGGTCAGGCTGGTATCGAACTCCTGGTCTCAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTAAGATTACAGGCATGAGCCACTGTGCCCAGCCCAGCTTCCATTTTGAATTTGCTTTGAACACTCTCCAAGCAGAAAATGGGTTTGTAATCTCAGATACACTTTCTTGTTCTCTACCTCCTCCTCCTTCCTCAATGTGGTTGATCCAGATATCTCCCTTACGTAACCATCTTTCTGTCACCATGTCCCTATGGGACAGCTAAATACAACTTGCCTGACTCACCCCCCACAGCCCACATGGACTGCAGACATGTGTAGCAGTGACCACCTCTCAGTCAAAGCTGGACTCTGGGGAACTTGCGCATACTTCCTTTTAAACACACCAATTAGAACTCCCCAAGAGAAGCCTGGTTGGGTAACCCCTGGGCCCCAATAAAGGCTTCAGCTCATGAGTCCCCCTCCCTCTCTTGTTCCGCACATACTGGTCAAGTGTCCATGTAACTCAAGACCGCTAACTCTTGGTCTTCAAGGCATGCTAATCTCTTCTGTCTAGGATGTCTATGTAAATGCACTGTTTCTATTATTTCCTGTATTTTGTTGAGTTGCCTTTTCTATGTCGCACCTGACCAACACATCTGAACCTAAGTTCTATCCAGATCAAAGCTCTCTTTGTAGGATTGTCTTGGCTGCGGCTGTCTTGGTAGAAATAAAATAAAAATTTGTCAGAAAAAAAAAAAACCCACGAAATGTCAGCAAAAACAAGTGTTCTTGAAGAGGAACACTTGGTCACTAGTCTGACATTTAGGCATTATTAGGCCCCGACCAGGAAAAAGAAAAACCTAAAGGGTCACATTTGGCTGGCTTCCAAATTAATCTACCTGGGGGAGGTCTTCTGATCCACGGCCCACATCCTGTCCCTGAGTAAACAATCTTATCCTGGGCTGGGGGTGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGCCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATAGAAAATTAGCCAGGCATGGTGGTGCGTGCCTGCCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTGATGGTGAGCGGAGGCTATGGTGAGCCGAGATCACACCATTGCACTGCAGCATGGGCCATAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGAATCTTATCCTGAGTCCCTCAAATCATATTGTGAGTTCTTCAAACTGCTGATGCTCTCATTAACATGTAACCTACTGACATCAAAAAGGATCCTGATTCGTTTCTAAATCATGAAGTTTTCCTGATTGTCTTCCATGTAGAACCTTTTAGCCTGTATGTTGTCATGTGTAACCAATGTTTATAACCTCTGAATTGTACCCTCCAATGAAAAGGACAATTCACCAATGAGGAGTCCCCCTCCCTTCTCCTAAAGGTTCTTAGGAAAGCGTCTGATTTGTAATGGAGGTTGGAACACATCCAAATTTGCTGGTGTGTCTTCCTGGGTCAATCCTCAAATTTGACCAGTAAACCTACATAAAATGACTTCTACCTCAATAGCCTTAATTTAGGTCAACAGAAGGCTCTCAGAAAGGCACAATTTCAGAAAATGAAAGCCCACAAGGGAAAAATGTTCTGCACCAATGCTAATCAGTAAAAACCAATATATACTCATATGGAGATAAATAAAAGATAAGTCTTTGTAAGGAATAAACACACACATGCGTACACGGTCAGACAGGTAATGTACACATGCCATTAGAATTTCTTAGAAAACTTAAATTCATCCATAATCTACGACCAGTAGTGGGAATATTGAGGAGAGAAAGTTACCCCCTGGGGAAGGCTCTGGAAACCAAGGGACTTACTGTGACCCCTATAAAGAGTTAGGTTGAGGAGACAGGACGGTGGATTAGACAGGATGGTGGACTTCAGACTCTGCTGTCCAGGGGAAGGGTCCGCAGACCGGGTAGTCGCCCGTAGGGAAGTCTGGGTCCTGCCCCAGCTGGTAACAGCTGGTTCCAACCAACCCCTCCTCCCGTCTCCGGACCCCTAGGCCGTGCACACGCACCATTTCCTGGCTTCCACGGTGTCCCGGGGTCTTCTCTACGGCTCCTGCGGCCTGTGCGGGTCCCAGTGTGCCAGAGGCTGCCACAGAACTTTCAGGGCGTCTCTTAGCAACAGAGCTGGGAACCAAGCGCAAGGAGTGGAGAAGATGCCCTGGGCTCTTGGAACCTCACAGCCTCCTCGCGGCAGCTCCCTTATTCACAGTTCTCACGACCCCACCCCACGTCCCTGATTGAGTAGTGTACCATGTCCTGCCCCCTGGGGAACTCAGTGACAGAAGAAGGTATCTCTTGGTGCTGAGTGGAGGCAGAAAAACAGGTTCCAGACCCAGACCCTCACAGAGCGATCTTCTTGCCTAGTGGTTCCTAGTGCTGTGACCTTATCCCGCCCCTGGGGACATTTGCATGTGGGCATAATTTCCCACCTGTACTCAATGAGCTCTTACTACCTCTTCCCCTGGACAGATCACAAGTCTGTGCTGGGAATCCCAGACCACTGTCCAGTGGAGCCATCCCCTAGCCTCAGAGCAGGAGGGGAGCCCAAGCCACACAGGCCACCCTGCAGCAGGAGGGAAGGCCTGATATCCTCCAGGGATCAGGAATTTCAGATGGGGCTGCTGGCGACATGGCCAAGCCTTTCTCCCACCTTATCTCTCAATCTACTCATTTTCAGCTCATAAAAGCACATCAACAATGAAATAAAACTGTTACATGCATGGAAAAACTGGAATTATAAGGCAACAGTCTTCTATAAAGGAATCAAAAGAGAAGAAAGGAAGAAACATGAACTAGCTCAAAGCAGCAGCCTGCTGAACCCACAGTTCACAAGCAAACTCCCTTTCAGGAGGTCAAACAGATTCCCAAGCTTAGGAGCCAAACTCTGACTCCTGAAACAATCTAGTGATGAGGCAGGGACATGGAAGCATTTAACTTTTGGCACTCAACTCGCCCTCCTATCCTGCTTGCACACTGTGGAAACACTCCTTTCTTCAACACTTTAAATGTTAACGAATTAAACGCTCCAATCAAAACCTGAAACATTAGACTTTGAATCTGAAAACATGAGTTTTGCCATGTTTTTAAGGACCAGACATAAAAGCATTGTGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTACCTAGCACTACGGGAGGCTGAGGCGGGCGGATCAGCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTTCCCGGGAGGCTGAGGCAGGAGAATCGCTGGAATCCAGGAGGTGGAGGCTGAAGTGAGCTGAGACTGTGCCATTGCACTCCAGCCTGGTGACAAAGCGAGACTCCACCTCAAAAAAGAAAAAGCATCATCAACTGAAAGGTGGAATCCATTGCTAAAAGAAAGGAACCAAACATGAGGTGTCATCAGATTAAATGAAATCTTCTATTTTTAAAAACTGTAGCTTTTCCTGACAGGGAAAATGGGCATGTTTGGCAAATAAGAAATAAATGATGTCTGATTATAACTCATCAACAAATAATTTTCATGTCTTAAAAAATGACATACACACACACAGTCTATTATCACAAGATTTTGTTCCCTCCTTGAAGGATAAACTACTGCTCTGCAAGATGCTCCACCCTTCACTCCTCACATTAACTGCTGCTAGCATATTTATTTGTTCCAAAACAGGTATAAAAAGAGGGTTCAGTGTGTCAAACTACATGATTGTTAGAGGTTTATGTACAGATTTTGTATATTTTTACAAACTGCACCAGTTAAGTAGTTGATTTATGTTGTTTTTGTTTTTTGTTTGTTTTTAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCAATTTCGGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCTTCAGTCTCCCAGGTAGCTGGGATTACAGGCATGCATCACCACTCCCGGCTAATTGTTTTTTGTTTTTAGTAAAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAGCCTACTGTGTTGATTCTTACAAAAGCTCTAGTACAAAAATAAATGTTCACGTTACCATGATGAAAAACTCAGGAATGGTGACTCCTCGATTCCTCTGAAAAACAATTTTTTTTAACCCTAAGAGAAGCTAGGAAGTCTACAGTAAATGGCTGGAGGTGATCCCTGAGAGAACACATTTTAGTGGAAAAGGTCACTCATGGAAAATACCAAAATTTATATGTAGCAGTTTAAATATACTACAGGAAACACTGCGATTACATTCTTCAGTTACCTCTATGACAGCATGATGGTTTTTTTTTAGGTAGGGTGTTTCTTTTTGGTTTTCTTTTAAAAAAGAAAACTGTAGGCTGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCATATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGTCATGGTGGCGGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACTATAAATCTTTCCCCACAACTGTAAATCTTTCTCATTCATAGAGATATCTTCCTAAATGTGCTACTAAACTTATATTTATATTTTCACCATTTCAGTGTGACTTCATTTTAATGCATGCTGTTATAAGGGTCTCAGTTGCTCTTCTCTGCAGGTCAATATCTGTTGCGGGAAGTCAGGGACACCAAATGGAGGGACCGGCTGGAACCGTGACAGAAGAACATAAATTATGAAGATTTCATGGACATTTATCAGTTCCCAAAATTAATACTTTTATAATTTCTTACGGCTGTCTTCACTGCAATGTCTGAACATAAATTGTGAAGATTTCGTGGACATTTATCAGTTCCCAAATGATATTTTTATAATTTCTTATGCCTGTCTTTAATCTCTTAGTCCCGTTATCTTCGTAAGCTGAGAATGTACATCACCTCAGGATCACTATTGTACAAATTGATTATAAAACATGAAATCAGTGCACCTTAAAAAAGAACAGAATAACAGCAATTTTCAAGGAACAAGGGAAGATAACCATATGGTCTGACTGCCTGTGGGGTCGGGCAGAATAGAGCCATATTTTTCTTCTTGCAGGGAGCCTATAAACGGATGTGTGAGTAGGAGAAATATCACTGAATTATTTTCCCAGCAAGGAATACCCTGGGGAAGGAATGCTTTCCTGGGGGGTGGTCTATAAACAGCAACTCTGGGAGTGTCTGTCTTACGTGGTTGAGATAAAGACTGAAATACACACTGGTCTCCTACAGTACCCTCAGGCTTACTAGGATTGAGAAATTCCAGCCTGGTAAATTTTGGTCAGACCGGTTCTCTGCTCTTGAACCCTGTTTCCTGTTAAGATGTTTATCAAGACAATATGTGCACAGCGGGACATAGACCCTCATCAGTAATTCTAATTTTGCCTTTGCCTTGTGATCTTTATCACCCTTTGGAGCATGTGATCTTTGTGACTTACTCCCTGTTCACACATCCCCTCCCCTTTTAAAATCCCTAATAAAAACTTGCTGGTTTTGTGGCTCAGGGTCGTCATCACGGTCCTACCAATATGTGATGTCACCCGTGGAGGCCCAGCTGTAAAATTCCTCTCTTCGTACTCTTTCTCTTTATTTCTCAGACTGGCCAACACTTAAGGAAAATAGAAAAGAACCTACACTGAAATATTGGGGGCTGGCTCCCCCGATAAATATCCAATTTTCCTAGCACCCTGTTGAAAAGACTTTCCCCATTCATGTATCTTGGCCTATTTGCTGAAAATCTATTAACGGTCAATGAAGGGTATCTTTATCTGTTTCTGCTGATATAATGAAATACTATAGATGGGGTAACTTATAAGGAACAGAAATTGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGTCATGGTGGCGCATACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGTATGCAGTGAGCCAACATCACGCCATTACACTCCGGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAACAGAAATTTATTTTTCACAGTCCTAGATACTGGGAATTCCAAGATAAAGGTACTAGCATCGGGTGAGGGCCTTCCTCTTGGATCTTCTGGAGGGAAGAAATGCTTGCATCCTCACAGGGCAGAAGACAGAAGGGCAAGAGAGGGCAAACCCCATCCATCAAGCCCTTGTAGTGGCATTAGTTTATTCATGAGGGCTTTGCCAAAAGGCCAAAGGCCTGCCTCCCAAAACTGTTTCACTGGGGATTAAATTCTAACCTATGAATTTTGCAGGGGAAATAAGCATTCAAACCATGGCAAAGGGGATGATTTCTGGACTCTCAGTTCTGTCTTACTGATCTGTGTATCAGACATTTTTCCAGTAGGTCTGGCTACTATAGTCCTTGACCTGATGATGGAGAGCTCCACCCCATTCCACATGATTGTCATGCACGGATAGAAATGGTCCTAAAGCCTCCAGAAGATCTCCTTGACATACTCTTAGACAACATAGACTTACTTCTATTTTGGGATAGCTCCTGTAAATGAATTGTTAAGGAAAACATAATAATGGGTTATGCAATATTTTCTTTCTTTGTTTTTTGAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATATTGGCTCACGCAGCCTCTGTCCCCCTACTCAAGCAATCCTCCCACTTCAGGTTTCCGAGTAATTGGGATGACAGGCATGCACCACCACACTCAGCTAATTTTTTAACTTTTTATAACAACAAGGTCTCACTCTATTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATTCTCCTACCTTGATATCCCAAAGTGTTGGGATTACAGGCATGAGCCATCATGCCTGGCCTAGGCAATATTTTCTCTACATGAAACACTTGAGGCATACTCTTCACTCACTGTAAAATCAGTATGAGCCTAGAGCTCATAGCTCTTACTACATCTTGCACGCTGACAAACAGGAAAACTGCCTCTACTGACACAGACTGCAGATATGCTTTTGGAATTCCTTATGCAACTGGCACAATTTGAAAAATTTGTGGATTCACAACTTGTTCTGGTATACCCACTGCCGATAGACACATAACTGGGCTACTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTGTGTTGCTGGGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCACCACTATGATCAGCTAATTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACCACGCCCGGCCCATAACTGGTGAACTATTACAGATGATTTGCCTCCCTATTAAAATGGCCACTGTTCACTGTCTAGTCCATACTACGGAGATTTATACTATATCTCTAGGGAATGATAGGGCTCAAAAGATTGCTAAATAGGAAGCCAAAAATGGTACCTTGTTCTTTCCCAATCCAGTTTGCAAAACTGCCTTTACCCGTGACTGATATTATCAAGTAAATGTCCCATAATCTAAGAAGATCTATAGATACAAAAGGGAAAAATAGTATTGTAGAGATTATACATTAGGCCAGTCACACTCCCTGTGCTATTAATACTTTCCTTCAATCTTTTCCCTTACACAAATCTCTCACCAAGTTGGACATAGAGGCAGATGGGAAAGAGTTAAGAAAACGAAAGACAACTGACTGGCCTGGCATCTACAAAATTACTGACCCACTTATTTCTCAGTGCATTACTTGTAACCCACCCAATTTCTGGATGAAGCTCACAAATTTCACAGAATCCTCCAACACCCACACTGACCCTCCCAGCCCTCCAAATGGATGGTTTATCTACAACTGTAGTCAATTCTCATTGTTTAGTGATTGTCTCCATGTTTAGTGGATGGGCGCAATGCTATACAGCTAGACATGATGATGCCATCAGTGGTAAATAATTAATCATTGAAATTATTCCTGGTTTTAGTATTCTTTTGTGGACAGAACAAAACCAATGAGGTAATTTTATATGTGCTGCTGAAGCGAGCACAACCAAGGAGGTAATTTTATAGCTGATATAAACCACATTCTTGCAAAAACTACGGAAGACTTATTAAAATACATACCATCCTTAACCATCAGAGCAAAGAGAATATAAAAATCTAAACATAAAAAGGACTTTAGAGAAATAGCTGTCAAAACACTGGACTTCAATGGCCAGAAGCATTAGCCCTGGCCCTTATAAAAATCTGAAATACTACCAACAGTAGACATGGATTATCTCCTTTTCTGTAGTTTTTGGGTTTTGGTTGCACTGTAGCTATTGGTATATCTAAACTTTACATTCCTGGATTGAGTAAATATTCTTGGGAATGAAGTGAACAATATGATGCTATGACTAGCTACATGTAAGAACTAACCAGTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCAAAACTAGTCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAGTTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGGAGGATGCAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGCGACACAGTAAGACTCCATCAAAAAAAAAAAAAAAAAAAAACTAACTAGTATATTTGGAGCATGTCATCAACAGGTTAAAAAAAATGCCATCACTTTTGACCAAAAGATAAGGTATTTCCAGGTGTGGTGGCTCAGGCCTGTACTCCCAGCCATTTGGGAGGCCAAGGTGGGAGGATAACTTCAGTCCAGGGGTTCGAGACCAGTCTGGGCAACATAGCAAGACCCTGTCTCTGTAAAAAAAAAAAAAAAAATTAGCTGAATGTGGAGATATGTCTCAGTAGACCTAGTTACTCAGGAGACAGAGGCAGGAGCATCACATGATCCCAGAGTTTCAAGGCTGCAAGGGGCTGATCATGCCAGTGCACTGCAGCCTGGGCAACAGACTGAGACCTTGTCTATAAAAAAATAAAAATAGGTCAGGCACAGCGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGCTGGATCATTCAAGGTTGAGAGTTCGAGACCAGCCTGGCCAATATTAAACCCCATCTCTACTTAAAAATACAAATATTAGCTGGGCATGGTGGTGGACGCCTATAATCCCAGCTACTCGGGAGTCTGAGACATGAGAACCACTTGAACCTGGGAAGCAGAGGTTGAGTGAGCCGAGATTGCACCACTCCTCTCCAGCCTGAGTGACAGAGTGAAACTGTGTCTTCGGAAAACAACAACAACAAAAGAATATTATTCAGGCATAAAAAAGCAATGAATTACTGACATATGCTACCACATGGAGGGAACCTGAAAACATGCTAAGTGAAATAAGCCAGACACAGAAGGACAAATATTGTATGCTCCACTTATTTATTTTTTTGATTCGTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCATGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGTTAAGTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATATTGGCCATGCCGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCTAGATGCTCCACTTAGTCAAATTCACAGAGCAAGAGAGTAGACTAGACGTCATCAGGGATTGAGTGTAGAGAAGGGAAGTTGTTTTTTAATGGGTACTGAGTTTCTGTGTGGAGCGATGAAAATCTAGAGATAATTAGCTGTAATGGCTATAACACATTGTAAATGTATTTAATGCTCCTGAATGACACACTTAAAAATGATTAAAGTGGAAATTTTATGTTAGTACATGTTACTTCAAGACAATTTATGAACAAAAGAAAAGACACAATTCAAGCTACTATATATGAACACAACAATATCTAGAAGCACTGGATGGAGGTTGGTGTGGTGGCACATGCCTCTAGTCCCAGCTACTCAGAGCCTGAGGTGGAAGGATCGCTTGAACTCAGGAATTCAAGCCCAACAGGGGCAACTAGTAAGACCCTGTCTCTTAAAAAATAATAATAATGATAATAATAATAATAATAATGCACTGAATGGACAAAACAGCAGAGGAGATATTGCTGAAATAAAGATAAGTGAACCTCAAAAACTAGGAGTATAACCGATTTAAAATATAGCACTCAGACAAAAAAATGAACAGAACCTCAGTGAGCTGTGTAATGGGACAATTGTACAAGGACTCCTTGAAAGACAGGAGTAAAAACAGAACAAACAAAAAATATTTCCATAAATATTTCAGGCCGAGCACAATGGCTCAGGGGTTTATTGAGCTTTTTGGATCTCTAGGTTTATAGTTTTCATCTAATTTGGAAAATATTTGCTGTAATCCCAGCACTTTAAAAGGCCGAGACAGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCATTTGAACCTGGGAGGCGGAGGTTTCAGTGAGACAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAACAAAACAAAACAAAACAACAATAACAAAACTAGCAGTAACAATATGTTTTACACAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAAAATTAAAAATTAGCCAGATTGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCTTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCAGAGCTTGCATTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAAAAAAAAAAAAAAATTAGCCAGGCATGGAAGCTCACACCAGTGGTCCCATCTACTCAGGAGGCTGAGGTGGAAGGATCACTTGAGCCTTGGAGGACGAGGCTGCACTGAGCCATATTCATGCCACAGCACTCCAGCCTGGGTAACAGAGTGAGACCCTGTCTCAAAACAAACAAACATTTGTCGCATATTTTCCAAAACAGATAAAAATTATGAACCTACAGATGCAAAATGCTCAACAAACCACAGGCACAATATATATCAACAAATCTACACCAAGACACAGCATCAAATTGCTGAAAACCAGGTATAATAAAAAATTCTTTAAAGAAACCAGAGAAAATAGACACCTTAACAACAGACAACCAAATGTAACATTGATTACATACTTATTATCAGAAACAATGCAAACAGGAAGACAATGGAGTAACATCCTTAAAGAACTAAAAGAACAAGGATATCAACAAAGAATCTTATATTGAGCAAATAATATCTTTCCAAATGAATGGAAAATACTTTATTTAGTCATAATAAATGTGTTTGCAATCAGCATATTGGCTCATTGAGAAAGGTACAGCCGGGTGTGGTGGCTCACGCCTGTAACCTGAGCATTTTGATAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGATTTCAAGATCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTATAAACACAAAAATTAGCTAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGGAGGATGCAGTGAGCCAAGATCGTGTCACTGCACTCCAGCCTCGGCGACAGAGTGAGATTCCGTCTCAAAAAAATAAAGGTCCAGCTGGGTGCAGTGGCTCATGCCTGTAATTGCGACACTTTGTGACGCCGAGGCGGGAGAATTGCTTGAGTCCAGAAGTTCAAGACCAGCTTGAGCAACACGGCAAGACTCCATCTCTACAAAAAAATTAAAATGGCATGGTAGTATGTGCCCGTCCAGATCACTGAATCCGTAAAAAAAGAAAAACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGTCGAAGCAGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACAAACATGGTAAGATCCCATCTCTACTAAACATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGACGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGAAAGCAGTGAGCCACGAGATCATGCCATTGTACTCCAGCCTGGGTGAGACAATGAGATTCCATCTCAAAAACAAAGGAAAACAAAACAAAAACCAAACAAACAAAAACCAAACTGGCTGTCTTACTACTGGGGTGGCTGAGTAAGTCCTCTAAACTACTATTCCTATCAAATGGTCCTTGGACACACCCTTAGAGTTTTCTCTTCCCAAGATGATTTTTCATCTTGGTAATATGGATAGACTGGGAATTTTCCAAATCTTTTTGTTTCAGTTCCATCTTAATAATTCCATCTCCAGTCAAGTCTTTCCTCACATTAGTATATGCAGTCAAGAGGAACCAAGCTGCCTTTTTCAACACTTCTTAGAAATGTTGTCAACTCAATATCCAATTTCATCACTTCCTAGTTCTACTTTCCACAAAACTAGCACAGGACCACGATACACAAAGTTCTCTGCCACTTTATAAGAAGAAATCAACTTTTCTCCATTGTGTAATAACATTAACCTCAATTCTCTTTTTACATATATTTTAGTTTGTTTCAGAAACAGGGTCTCACTCTCTCTCCAGCCCAGGCTGGAGTGCAGTAGCATGACCTAGCTTACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCTGGTGACCTCAGCCTCCCTGGTAGCTATGACTACAGGCATATACCACCAAGCCTAGCTAAATTTTCCTTTTTTCTTTTTTTGTAAGGATGAGGTCTCACCATGTTGCCCAGACTGGTCTTGAACTCCAGGCCTCGGTTGGGCATGGTGGCACACACCTGAAGTCCCAGCTACTTGGGAGGCCTGAGGCAGGAGGATCTGTTGAGCTTAGGAGTCGGAGGTGGCAATGAGCTATAATCACGCCACTGCACTCCAGCCTGGGCAACAAATTGAGATCCCCATTTCCAGGAAGGAAGGGAAAGGAGAGGAGGGGAGGGGAGGAAGAAGAGAAGAGAAGGGAAGGGAAAGGGGAAGGAGAAGGGGAAGGGGAAAAGGAAGAGGAAGGGGAAGGGGGAAAATCCAAGCCTCAAGCGATCCTCCCATCTTGGCCATTCAAAGTACTGCCATAACAGGCATGAGCGACCATGCACATTCCACTTTCATTTTTGAGGATCCACTCTCATAATCTAACCTAATCCTTATCATATCTCAAAGAAACCATTGCCTAATACTGCCACATCAGGGAAGTGGAAAAATAAATAAAATTTTCTACAAACATTTATTCCATAACAAGTGATTAGTAGCTTTTTATCATTTTCTAAATACTCTTCATGTTAATCCCTTATCAGATATATAATTTGGAAATGGTTTCTCCCATTCTATGGGTTACCCATTTACTCTGTTAATATTGCCTTTTGATGCCAAAGGTCCACAAAATCCAAATTATTCTTTCCCTTGTGGGTCATGCTTTTGGTGCCAAATCTAGGAAATCATTGCCAAATTCACTGTAATACAGCTTTTGCCATGTATTTTCATCTAACAGTTATACAGCTAAGATGGACACTCACATATTTCGTTCATTTTAACTTCTGTACATGTTAGGTATGGGTACAACGTCATCCTGTTGCATGTGGATGTGCATTGCCCAACAGCATCATTCTACAGAAACATTAAGCTATCCCCCATTGAATAGTCACAGCAGACTTTTCAGTAATTGTTAGACTTTATGTAAATTATTAGACTTTATTAGACTTTCTGTGTTATCTTGTTGCATTGTCTATTTCTGCGTTATTACGCTAGTACCAAACAGTTTTTATTAGTATGGATTTGTAATAAGTTTTGAAATCAGGAAGTGTGAGTTCACCAACTTTGTTCTGGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCTCAGGCTCAAGTGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACGCGCCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGATGCGATTTCACCATGTTGGTCAGGCTAGTCTCCAACTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGCGGTGGGATTACAGATGTGAGCCACCACATCTGGCCATTGTTCTGGCTTTTGAAGACTGTTTTGTTCATTCAGAGACCCTTGAGATGTCATATATAAAAAAATAAAAAATGTTAAAAAATGGCTCCTAAGAAGGAATCAAGTGGTCAAACCTATCCCTAAAAGGCTAGCAGGGGACAAAAAGTGGTATCTCTCAATAAGAAAATACAAACCTAAGATGTTTTGAAAAGTGGTGTATCACCTTGGAAAGTTCGTCATAAGGTAAGAACAAACCAAGAAATCACACACTAAAGCAGAGAGAAGCTGAAGTTCCTCAAAGTGTTAGAGCTGCCCCTACAGTGGCAAAAATGATCCCTCTAGTTCATGATAAACTAAGGATAAGCATTAAGTGTGTGGCTAGAGGACACGTCACAGAACCACAGCCCTACTGATGGTAACATCATACTTGAAAAAACACTTAGCCAGGCCAAGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGATCAGCCTGACCAACATGGTGAAACCCAGTCTCTACTCAAAAGACAGCTGGGTGTGGTGGCGCGCACATGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGGGGTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAGCAACACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAGAAGGAAAGAAAGAAAAGAAAACAAAAAACACTTAGCCTCTGTAAGCATCACTGTGAGGGGGCTGAGGAGAGCAAGAGGAAGGAGTTTGAAGCCAGTAAGTTCTGGCTAGGCTAACTATGCAACACAGTGCAGCCCAAGAACTTGAAGACCACAGGAGAATTGGCATCGGCTGATGCCAGGGAAACAACAGCATTCCTAGAAGAGCTCATAAAACAGAAAAAAGACACTACCTTCCAGAGTAAATCTTCTATTGTCATGAATCAGGCATGTTCTAGAAGATGCCCAATGGTACCTTCATACATGAGTGCAGGTACTGGGGTTCAAGGCCTGGAAAGACCACCTTTTTCTGGTGCTGTCAGGCCATGCATTAGTTCATGAGAACAAGCGAGGCTTCGTCTACTGAGCAATCACCAGGTTCTTTAGGACAAAAGCAAAACTTGCTGGCCTGTGTCCTGGCAAGAACATAAGAAGGCTTTCTTCTAGCAATGCTTCACTCCTGATGTGATGGAATACCTCAAAGAGAAGGGACTGCCACTCAAGGTCTTCCTCAGAATTGACAACACTCCAGGCCATCTCTCCAATCTCTGTTTTGCCTAAAAGAACATGCAAGTGATATTTCTGCCTCCTAAAACTACATCACTGCTGCGTCACTAGATCAAGGCATCAAGTGCATTCAAGTGACTTACATCCTTGGGTGAATTCATGGAGTCTTGATGCTAACCTTGAATGTACCACAGTGGTTTTATTGAAGAGCTTCACAATTACAAATACAATTGTGCTTATTGGGAAGGCTACAGATGCCCTAAAGCCCAGGACAGCCAATACATGTTACAAGCCATCATGGGGTAAGGGAGTCAATGATTTCAAGGACTTCCCTACTATTAATGCAGTTATTAAGAATATGTGAAATGTTGCAAAAAAAGTTGGTGGGGAACGCTGTCTGAAATGACTGAGGATGACGTTAAGGAACACACCGAAAAGCAAAGAGAAACCCTTACCAGCTAGGAACTTCAAAGTCTGCTGAAATCCACTACAGATGATGATGAGCTAGAAAACTTAGAAGACACAGAGCCATTGATTTGGACACTTGAAAAGTTTGCCACAGTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTATAATGGAACAAAGCTTTCAATCTACCTGAGAAACAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAGCTAAGCATCTGCAAATAAGACGGAACATTCAATGGTTTTTTCAGTAGGCAAAGGTGAAAAAGAGGTACGATCCTCAAAGATCCTACAGTGGAACAAAGCTTTCAATCCACCTGAGAAACAACATGCCTATAAGCACCACAAGATTTTTTTTTTAATGAAGCAAAGGAAAAGAAGAACTAGCTTCCTATAACTAAGCATCTGCAAAGAAGATGGAACATTCAATGGTTACAGATCTTCAGCCCTCAAGCCAAACAGATCCTAACATTAGTATTACATAGCCTCCTCAAATGAGTCCACATCTATAATCACAAGTTGGTTCTTCCAACATAGATGATAGTCCTGATGGCCTGTCAAGATTCAAGTTAACCTGATGTCTCACTACTTACCCACAATGCCATACATCTAGTCATCTCAACACATCAAAACACTGGGCACCACAGAATCATCATCATTGTTATAATCACTATACTTGGGTTATCAAGAGAGAAGACCCAGGGTTTTGGTAAGTGTTAACACATTAAACAGAAGAAATAGGTGAGAGTTGAAACAAAGAAACTTTAATGTTCTGGCTGACTACACTATGTTGATAGGCTCACAATTACTGCATCTATACTGAAAATACATAGACTCTTTTCCTTATCATGATTCCCTAAACAATACAATAGAACAACTATTTGCATAGCTTTTATAATGCATGAGGTATTTTAAGTAATCTAGACATAATTGAGACTATACAAGAGGATGTGGGTAAGTTACATACAAACATGTCATTTTATAAAAGGGACTGGACATGGCTCACGGAGTGCTGGAACCAATACCCAGCAGGTATCAAGGGATGACTGTACTGGAAAGAAACTGAAACTACTTAAGGCTTTACCAAGTGCTTACATTCACAGGGTCTATCTCCAATGTGTTTCGTACAAGTATCTGAAATGAAATAAAATTAATAAATGCTTTCCCACATTCCATACATTTAGAGAGAATGCTAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATATGGGTTCTCTCCAGTGTGAGTTTTTTTCCAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTTCCCACATTCCTTACATTCATACGGGTTCTCTCCAGTATGAGTTTTTTCATGTCCTTGAAGAAAACGGGAATGAGTGAAGGCTTTACCACATTGTGGACATTCATAGGATTTCTCTCTCATGTGAATTCTTTCATGTCGTAGAAAGCAAGTGAGCCAAGAGAATGCTTTCCCACATTCCTTACATTCATACGGCTTCTCTCCAGAGTGAATTCTTTCATGTACCTTTAAGTTATCATAATGACCGAAGGCTTTCCTACATGTTTTACACTCATAAGGTTTCTCTCCTGTGTGAGTCCTTTTATGTCGAGAAAGGTATCTGAAACGACTGAATGCTTTCCCACATTCCTTACACTCATATGGCTTCTCTCCAGTGTGAGTTGTTTTGTGATTTTGAAAGGAACAGAAATCAATACAGGCTTTCCCAAGTTTGCATTTATAGGGTTTCTCTCCAGTATGAGTTGTTTCATGCCTTCGAAGGGAACTGGAAATACGGTAGGCTTTGCCACATTGTTTACATTTATAGGGTTTCTCTGCAGTGTGAGTCCTTTCATGTCTTTGAAATACACTGGGATAAACAAAGGCTTTCCCACATACCTTGCATTTATGAGGTCCATCTCCAGTGTGCATTATCATATGACTTCGAAAGCTTGAGCGATGAGATAATGCTTTCCCACACTGCTTGCATTCATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGACTTTGCAGTGAACTAGGACAATCAAAGCCTTTCCCACATATCTTACATTTATGAGGTCCATTTCCAGTGTGCCTTATCATGTGTCTTTGAAAGCTTCCCAGATGATGAAACGCTTTCCCACATTGCTGACATGCATAGGGTTTCTCTGCACTGTGAGTGGTTTCATGTCTTTGAAGGGAACCGGAAACACTGAAGGCTTTCCCACATTGTTTACATGTATAGGGTTTCTCTCCAGTGTGAGTTCTTTCATGTATTAGACAAGAACTGGAATCAGGGAAGGCTTTAGAACACTGCTTACATTTATATGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGGAAAGGCTTTAGAACACTGTTTACATTCATACGGTTTCTCCCCAGTATGTGTTCTTTCATGTCTTAGATAGGAACTGTAAAAAGAAAAGGCTTTAGAACACTGCTTACATTCATATGGTTTCTCTCCAGTGTGCGTTCTTTCATGCATATGTAATAAACTGGGCCAAAAAAACGCTTTCCCACACAACTTACATTTATAAGGTCCATCTCCACGCTGCACTGCCATGTGTCTTTGAAGGTTTCCCAAAGAACTGAAGGACTTCCCACATTCTTTACAATCATATGGTTTCTTTCCAGTGTGAAGCCTCTCATGTGTTTGAAATGAGTTGTGGTAACTGAAGGCTTTCCCACGTTGTTTATGCGTATCTGGCTTCTCTCCACATTCATGATACTCATGTGGTTTGTGCCCAGCACCAACTCTGATGTAACAATTAAGGGATGAATGACCCATGACTTTTTCTCCTCTCATACTGCTTTCACAAGGACCTACTCCAGGAAGAGTGTTCTTGGTCACAATACTATCTTGAATCTGGCTAGATGTTTCTCCACATTGAGTTCCATCTTTACTTTCAACAAATCTCTCTAACATACGACATCTGTAAAAAATGGGAAATATATCACTAAAAGTCGGTCTATAAATAATTGTATAGGTATTAATAAGTATTGGATGTACATTTTTAACACTATCATGCGAAGTGCAGGCTTCGTGTCCTGCTTGAATGTGAATGGATGGAATGCTGTGCAAGGTAACTCGACCCAGGTGTTCTCAAGACAATCACATTCATATGTGGATTCATAATATTGTTGTCATGGGAACTAATTTATGAACACTGAACAGCTATGGAACATTTAAGTATATATTTTGGAGAAAATTTTCTAAGAATAAATAAATTTAAGCTAGCCTTGTTCATTTTCTTTGCTTCTTTTTAAATTTTCATGTCATTCTCAGAACGGCTCCAGGGACATATCTTTCTCTTGTGAGTGTAAATTACCTTAGATTTTTCCTGGGATATCTATATTGATCTTCAATGTTCTGGTCTTTCCATTTCATTACTAAAAGGTATACACAGAAAAATCATTACAAATTTTTACAAAATTATAGACAAACAGTAACATTTTGATGTACACTGCAATCGTTCAAAATGCATTCACTGAAGTACACCTGACTCTTGAAAAACAGAGGTTTGAACTGCACAAGTCCATTTGTATATACATATATATATGAATGTTCTTCAGTCTCTGCTACCCAAGACACTAAGACCAGCCCCTCCTCTTACTCAGCCTACTCAATGTGAAGACAATGAGGATGAAAACCTTTCCGAGGATGCACTTCCACTTAATGAACAGTAAATATAGTTTCTCTTCCTTATGATTATCTTTTTAACACTTTCTGTTTCTAGCTTACTTTACTGTGAGAATATACGATGTAATAATACGACATAAAATATATGTATTAATCACTGCTTATGTGACTGATAATGCTGCCCATCAATAGTAGGCTAAGATGTGGACAAAAAGTTATATGAGGATGTACAACTGCTACAGGAGCTGGCACCCCTAAACCCTGTTTTTTTTTTTCCAGGGCCAACCATATCCCCTTTCCA	BUFFER|p.P615P|c.1845G>A|4,BUFFER|p.R301I|c.902G>T|3,BUFFER|p.S235P|c.703T>C|3,BUFFER|p.L211L|c.631T>C|3,BUFFER|p.K111N|c.333A>C|3,BUFFER|p.K111I|c.332A>T|3	.	.	.	.	.	ENSP00000471613	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000595562	Transcript	.	.	ENSG00000268870	.	.	.	HIGH	1-2/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	CTD-3105H18.16	Clone_based_vega_gene	M0R135_HUMAN	.	UPI0002A47749	deletion	CTD-3105H18.16,splice_acceptor_variant,,ENST00000595562,;ZNF799,splice_acceptor_variant,,ENST00000419318,;ZNF443,splice_acceptor_variant,,ENST00000301547,;ZNF799,splice_acceptor_variant,,ENST00000430385,;ZNF799,splice_acceptor_variant,,ENST00000595766,;ZNF799,splice_donor_variant,,ENST00000460935,;CTD-3105H18.14,splice_donor_variant,,ENST00000435033,;ZNF443,splice_acceptor_variant,,ENST00000436821,;CTD-3105H18.18,downstream_gene_variant,,ENST00000598753,;	.	135	166	FAILED
LRRC38	126755	.	GRCh37	1	13802273	13802273	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	37	9	54	0	ENST00000376085.3:c.*41C>A			ENST00000376085	NM_001010847.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53269.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTGGTTCGG	NONE	.	.	.	.	.	ENSP00000365253	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376085	Transcript	.	.	ENSG00000162494	27005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC38_HUMAN	LRRC38	HGNC	.	.	UPI00001C1D7E	SNV	LRRC38,3_prime_UTR_variant,,ENST00000376085,;	1381	54	47	SUCCESS
LL22NC03-75H12.2	0	.	GRCh37	22	47857372	47857372	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	25	83	0	ENST00000405369.3:c.*70T>C			ENST00000405369				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACGGCAGAGGC	NONE	.	.	.	.	.	ENSP00000385262	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000405369	Transcript	.	.	ENSG00000218357	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LL22NC03-75H12.2	Clone_based_vega_gene	B1AJR3_HUMAN	.	UPI000157480B	SNV	LL22NC03-75H12.2,3_prime_UTR_variant,,ENST00000405369,;LL22NC03-75H12.2,downstream_gene_variant,,ENST00000481625,;	660	83	73	SUCCESS
NCAPH	23397	.	GRCh37	2	97039143	97039143	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	23	107	0	ENST00000240423.4:c.*54G>T			ENST00000240423	NM_001281711.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2021.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCGGGACATC	NONE	.	.	.	.	.	ENSP00000240423	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000240423	Transcript	.	.	ENSG00000121152	1112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CND2_HUMAN	NCAPH	HGNC	E9PHA2_HUMAN,B4E189_HUMAN	.	UPI0000163F72	SNV	NCAPH,3_prime_UTR_variant,,ENST00000455200,;NCAPH,3_prime_UTR_variant,,ENST00000435349,;NCAPH,3_prime_UTR_variant,,ENST00000427946,;NCAPH,3_prime_UTR_variant,,ENST00000240423,;	2323	107	88	SUCCESS
FUT9	10690	.	GRCh37	6	96653108	96653108	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs968896941	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	14	43	0	ENST00000302103.5:c.*997C>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTATCATTTA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	2403	43	44	SUCCESS
ZXDB	158586	.	GRCh37	X	57622153	57622153	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-FV-A4ZQ-01	TCGA-FV-A4ZQ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	21	41	1	ENST00000374888.1:c.*1260A>G			ENST00000374888	NM_007157.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35313.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGATGATGGAA	NONE	.	.	.	.	.	ENSP00000364023	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000374888	Transcript	.	.	ENSG00000198455	13199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZXDB_HUMAN	ZXDB	HGNC	.	.	UPI000013C495	SNV	ZXDB,3_prime_UTR_variant,,ENST00000374888,;	3885	42	34	SUCCESS
CTXN2	399697	.	GRCh37	15	48495124	48495124	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	35	0	ENST00000417307.2:c.*1381A>G			ENST00000417307	NM_001145668.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45254.1	.	RADIA|VARSCANS	.	CACAGAACTGC	NONE	.	.	.	.	.	ENSP00000406145	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417307	Transcript	.	.	ENSG00000233932	31109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTXN2_HUMAN	CTXN2	HGNC	.	.	UPI00005A8DAF	SNV	CTXN2,3_prime_UTR_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000330289,;SLC12A1,upstream_gene_variant,,ENST00000380993,;CTXN2,downstream_gene_variant,,ENST00000541248,;SLC12A1,upstream_gene_variant,,ENST00000396577,;SLC12A1,upstream_gene_variant,,ENST00000558405,;SLC12A1,upstream_gene_variant,,ENST00000561031,;RP11-605F22.1,upstream_gene_variant,,ENST00000559875,;SLC12A1,intron_variant,,ENST00000561127,;	1999	35	22	SUCCESS
RP11-483P21.3	0	.	GRCh37	16	83828659	83828659	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	4	60	0				ENST00000567109				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58485.1	.	RADIA|MUTECT|VARSCANS	.	GCTTGACTCCC	NONE	.	.	.	.	.	ENSP00000268613	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000268613	Transcript	.	.	ENSG00000140945	1753	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CAD13_HUMAN	CDH13	HGNC	.	.	UPI00020E71A6	SNV	CDH13,3_prime_UTR_variant,,ENST00000428848,;CDH13,3_prime_UTR_variant,,ENST00000268613,;CDH13,3_prime_UTR_variant,,ENST00000566620,;RP11-483P21.3,upstream_gene_variant,,ENST00000567109,;RP11-483P21.2,intron_variant,,ENST00000565714,;RP11-483P21.2,downstream_gene_variant,,ENST00000567342,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	2400	60	32	SUCCESS
LRRC37B	114659	.	GRCh37	17	30380427	30380427	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1042735105	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	157	189	0	ENST00000341671.7:c.*80T>G			ENST00000341671	NM_052888.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32609.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCAATGAAAA	NONE	.	.	.	.	.	ENSP00000340519	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000341671	Transcript	.	.	ENSG00000185158	29070	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LR37B_HUMAN	LRRC37B	HGNC	J3QL10_HUMAN,F5H5K1_HUMAN	.	UPI000044D37B	SNV	LRRC37B,3_prime_UTR_variant,,ENST00000327564,;LRRC37B,3_prime_UTR_variant,,ENST00000543378,;LRRC37B,3_prime_UTR_variant,,ENST00000341671,;LRRC37B,downstream_gene_variant,,ENST00000582117,;LRRC37B,downstream_gene_variant,,ENST00000584368,;LRRC37B,downstream_gene_variant,,ENST00000394713,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000579094,;LRRC37B,downstream_gene_variant,,ENST00000579766,;LRRC37B,downstream_gene_variant,,ENST00000578674,;LRRC37B,downstream_gene_variant,,ENST00000581086,;	2929	189	177	SUCCESS
CLEC10A	10462	.	GRCh37	17	6978366	6978366	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	25	0	ENST00000254868.4:c.*7T>C			ENST00000254868	NM_182906.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11087.1	.	RADIA|VARSCANS	.	ACCAAAGGCAG	NONE	.	.	.	.	.	ENSP00000254868	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000254868	Transcript	.	.	ENSG00000132514	16916	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLC10_HUMAN	CLEC10A	HGNC	.	.	UPI0000074738	SNV	CLEC10A,3_prime_UTR_variant,,ENST00000254868,;CLEC10A,3_prime_UTR_variant,,ENST00000576617,;CLEC10A,3_prime_UTR_variant,,ENST00000571664,;CLEC10A,3_prime_UTR_variant,,ENST00000576549,;CLEC10A,3_prime_UTR_variant,,ENST00000416562,;CLEC10A,downstream_gene_variant,,ENST00000571624,;	1287	25	22	SUCCESS
NDUFA6-AS1	0	.	GRCh37	22	42538036	42538036	+	downstream_gene_variant	3'Flank	SNP	C	C	A	rs746181155	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	76	0				ENST00000416037				0	.	.	.	.	.	A	.	antisense	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACGGGGA	NONE	byFrequency	2750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746181155	.	PASS	ENST00000416037	Transcript	.	.	ENSG00000237037	45273	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	NDUFA6-AS1	HGNC	.	.	.	SNV	NDUFA6-AS1,downstream_gene_variant,,ENST00000416037,;NDUFA6-AS1,downstream_gene_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608491,;RP4-669P10.16,upstream_gene_variant,,ENST00000428786,;CYP2D7P,downstream_gene_variant,,ENST00000424775,;CYP2D7P,upstream_gene_variant,,ENST00000435101,;CYP2D7P,downstream_gene_variant,,ENST00000435688,;CYP2D7P,missense_variant,p.Arg229Leu,ENST00000433992,;CYP2D7P,missense_variant,p.Arg229Leu,ENST00000358097,;	.	76	67	SUCCESS
B3GNT5	84002	.	GRCh37	3	182989773	182989773	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	150	30	203	0	ENST00000326505.3:c.*1050A>T			ENST00000326505	NM_032047.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3244.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCAGAGTTTT	NONE	.	.	.	.	.	ENSP00000316173	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326505	Transcript	.	.	ENSG00000176597	15684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	B3GN5_HUMAN	B3GNT5	HGNC	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN	.	UPI000003D75E	SNV	B3GNT5,3_prime_UTR_variant,,ENST00000460419,;B3GNT5,3_prime_UTR_variant,,ENST00000326505,;MCF2L2,intron_variant,,ENST00000328913,;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000481531,;B3GNT5,downstream_gene_variant,,ENST00000464191,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,downstream_gene_variant,,ENST00000465010,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;MCF2L2,downstream_gene_variant,,ENST00000475664,;	2717	203	180	SUCCESS
ROBO2	6092	.	GRCh37	3	77695323	77695323	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	59	0	ENST00000461745.1:c.*117A>T			ENST00000461745	NM_002942.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54609.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTGTAAATGC	NONE	.	.	.	.	.	ENSP00000417335	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000487694	Transcript	.	.	ENSG00000185008	10250	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ROBO2_HUMAN	ROBO2	HGNC	H9XFA4_HUMAN	.	UPI0000D891EC	SNV	ROBO2,3_prime_UTR_variant,,ENST00000490534,;ROBO2,3_prime_UTR_variant,,ENST00000332191,;ROBO2,3_prime_UTR_variant,,ENST00000461745,;ROBO2,3_prime_UTR_variant,,ENST00000487694,;ROBO2,downstream_gene_variant,,ENST00000475334,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;ROBO2,non_coding_transcript_exon_variant,,ENST00000470802,;	4581	59	54	SUCCESS
EMB	133418	.	GRCh37	5	49695027	49695027	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25S-01	TCGA-G3-A25S-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	275	81	328	0	ENST00000303221.5:c.*80C>A			ENST00000303221	NM_198449.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3953.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGCTCTT	NONE	.	.	.	.	.	ENSP00000302289	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000303221	Transcript	.	.	ENSG00000170571	30465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EMB_HUMAN	EMB	HGNC	B7Z902_HUMAN	.	UPI0000160A6D	SNV	EMB,3_prime_UTR_variant,,ENST00000514111,;EMB,3_prime_UTR_variant,,ENST00000303221,;EMB,3_prime_UTR_variant,,ENST00000508934,;EMB,downstream_gene_variant,,ENST00000506190,;EMB,non_coding_transcript_exon_variant,,ENST00000505896,;	1280	328	356	SUCCESS
WDR33	55339	.	GRCh37	2	128462360	128462360	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs572336287	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	18	31	0	ENST00000322313.4:c.*1537A>G			ENST00000322313	NM_018383.4			0	.	C:0.0061	.	C:0.0029	.	C	.	protein_coding	YES	CCDS2150.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACCATTGAAA	NONE	byFrequency|by1000G	.	.	C:0	.	ENSP00000325377	C:0.002	22/22	.	.	.	.	.	.	.	.	rs572336287	22/22	PASS	ENST00000322313	Transcript	.	C:0.0026	ENSG00000136709	25651	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	WDR33_HUMAN	WDR33	HGNC	C9J8B4_HUMAN,B9A053_HUMAN	.	UPI000013D032	SNV	WDR33,3_prime_UTR_variant,,ENST00000322313,;SFT2D3,downstream_gene_variant,,ENST00000310981,;	5707	31	50	SUCCESS
PAX3	5077	.	GRCh37	2	223066132	223066132	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs753282124	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	53	0	ENST00000350526.4:c.*511G>A			ENST00000350526	NM_181457.3	484		0	.	.	.	.	.	T	A/T	protein_coding	YES	CCDS2448.1	1450	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACGCGATAT	NONE	.	.	hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329	.	.	ENSP00000375921	.	9/10	.	.	.	.	.	.	.	.	rs753282124,COSM1016999	9/10	PASS	ENST00000392069	Transcript	.	.	ENSG00000135903	8617	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.054)	.	deleterious_low_confidence(0.01)	0,1	PAX3_HUMAN	PAX3	HGNC	.	.	UPI00001A8BF0	SNV	PAX3,missense_variant,p.Ala484Thr,ENST00000392070,;PAX3,missense_variant,p.Ala484Thr,ENST00000392069,;PAX3,missense_variant,p.Ala483Thr,ENST00000409551,;PAX3,synonymous_variant,p.%3D,ENST00000336840,;PAX3,synonymous_variant,p.%3D,ENST00000344493,;PAX3,3_prime_UTR_variant,,ENST00000350526,;PAX3,downstream_gene_variant,,ENST00000464706,;PAX3,downstream_gene_variant,,ENST00000555548,;	1816	53	58	SUCCESS
NEK10	152110	.	GRCh37	3	27152745	27152745	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs955132030	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	29	3	37	0	ENST00000429845.2:c.*18T>C			ENST00000429845				0	.	.	.	.	.	G	.	protein_coding	.	.	.	RADIA|VARSCANS	.	AGTCCACTCAA	NONE	.	.	.	.	.	ENSP00000395849	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000429845	Transcript	.	.	ENSG00000163491	18592	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEK10_HUMAN	NEK10	HGNC	C9JJN0_HUMAN	.	UPI0000EE2A86	SNV	NEK10,3_prime_UTR_variant,,ENST00000429845,;NEK10,3_prime_UTR_variant,,ENST00000383771,;NEK10,3_prime_UTR_variant,,ENST00000295720,;NEK10,3_prime_UTR_variant,,ENST00000383770,;	3900	37	33	SUCCESS
MOSPD3	64598	.	GRCh37	7	100212832	100212832	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	33	0	ENST00000223054.4:c.*26C>A			ENST00000223054	NM_001040097.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5701.1	.	RADIA|VARSCANS	.	CCCACCCCACC	NONE	.	.	.	.	.	ENSP00000377522	.	5/5	.	.	.	.	.	.	.	.	.	5/5	oxog	ENST00000393950	Transcript	.	.	ENSG00000106330	25078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSPD3_HUMAN	MOSPD3	HGNC	F8WF07_HUMAN,C9J3M4_HUMAN	.	UPI000004A079	SNV	MOSPD3,3_prime_UTR_variant,,ENST00000424091,;MOSPD3,3_prime_UTR_variant,,ENST00000379527,;MOSPD3,3_prime_UTR_variant,,ENST00000223054,;MOSPD3,3_prime_UTR_variant,,ENST00000393950,;MOSPD3,downstream_gene_variant,,ENST00000493970,;MOSPD3,3_prime_UTR_variant,,ENST00000462372,;MOSPD3,downstream_gene_variant,,ENST00000490309,;MOSPD3,downstream_gene_variant,,ENST00000497456,;	1016	33	39	SUCCESS
TFEC	22797	.	GRCh37	7	115580539	115580539	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25T-01	TCGA-G3-A25T-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	21	0	ENST00000265440.7:c.*66T>C			ENST00000265440	NM_012252.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5762.1	.	RADIA|VARSCANS	.	AACACAGAGCA	NONE	.	.	.	.	.	ENSP00000265440	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000265440	Transcript	.	.	ENSG00000105967	11754	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TFEC_HUMAN	TFEC	HGNC	Q75MG2_HUMAN,Q75KY0_HUMAN	.	UPI000006CC81	SNV	TFEC,3_prime_UTR_variant,,ENST00000457268,;TFEC,3_prime_UTR_variant,,ENST00000320239,;TFEC,3_prime_UTR_variant,,ENST00000393485,;TFEC,3_prime_UTR_variant,,ENST00000265440,;TFEC,downstream_gene_variant,,ENST00000484212,;TFEC,intron_variant,,ENST00000462828,;	1291	21	34	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100864136	100864136	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	83	0				ENST00000298815	NM_152432.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8309.1	.	RADIA|VARSCANS	.	ACCCTCAACTG	NONE	.	.	.	.	.	ENSP00000303999	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303130	Transcript	.	.	ENSG00000170647	24033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM133_HUMAN	TMEM133	HGNC	.	.	UPI0000070A3A	SNV	TMEM133,3_prime_UTR_variant,,ENST00000303130,;ARHGAP42,downstream_gene_variant,,ENST00000524892,;ARHGAP42,downstream_gene_variant,,ENST00000298815,;ARHGAP42,downstream_gene_variant,,ENST00000529535,;	1326	83	39	SUCCESS
MSL1	339287	.	GRCh37	17	38290670	38290670	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	60	0	ENST00000398532.4:c.*48C>A			ENST00000398532	NM_001012241.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45670.1	.	RADIA|VARSCANS	.	CATTCCCGAGA	NONE	.	.	.	.	.	ENSP00000462945	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000579565	Transcript	.	.	ENSG00000188895	27905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MSL1_HUMAN	MSL1	HGNC	B4DMT3_HUMAN,B3KWR7_HUMAN	.	UPI0000DBE498	SNV	MSL1,3_prime_UTR_variant,,ENST00000578648,;MSL1,3_prime_UTR_variant,,ENST00000579565,;MSL1,3_prime_UTR_variant,,ENST00000398532,;MSL1,downstream_gene_variant,,ENST00000577454,;MSL1,non_coding_transcript_exon_variant,,ENST00000580086,;MSL1,non_coding_transcript_exon_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000583127,;MSL1,downstream_gene_variant,,ENST00000581246,;MSL1,downstream_gene_variant,,ENST00000582884,;	1368	60	36	SUCCESS
PRSS57	400668	.	GRCh37	19	685682	685682	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs756392524	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	16	34	0	ENST00000329267.7:c.*34G>A			ENST00000329267	NM_214710.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12041.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCGGCCA	NONE	.	.	.	.	.	ENSP00000327386	.	5/5	.	.	.	.	.	.	.	.	rs756392524	5/5	PASS	ENST00000329267	Transcript	.	.	ENSG00000185198	31397	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRS57_HUMAN	PRSS57	HGNC	.	.	UPI000022AA4D	SNV	PRSS57,3_prime_UTR_variant,,ENST00000329267,;FSTL3,downstream_gene_variant,,ENST00000166139,;FSTL3,downstream_gene_variant,,ENST00000591552,;FSTL3,downstream_gene_variant,,ENST00000605925,;FSTL3,downstream_gene_variant,,ENST00000592947,;FSTL3,downstream_gene_variant,,ENST00000592058,;FSTL3,downstream_gene_variant,,ENST00000589185,;FSTL3,downstream_gene_variant,,ENST00000591573,;FSTL3,downstream_gene_variant,,ENST00000588773,;RPS2P52,upstream_gene_variant,,ENST00000469610,;	916	34	27	SUCCESS
B3GALT6	126792	.	GRCh37	1	1168847	1168847	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	25	0	ENST00000379198.2:c.*200del			ENST00000379198	NM_080605.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13.1	.	INDELOCATOR|VARSCANI	.	CCCGTTCCTGGA	NONE	.	.	.	.	.	ENSP00000368496	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000379198	Transcript	.	.	ENSG00000176022	17978	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3GT6_HUMAN	B3GALT6	HGNC	.	.	UPI0000141885	deletion	B3GALT6,3_prime_UTR_variant,,ENST00000379198,;SDF4,upstream_gene_variant,,ENST00000403997,;SDF4,upstream_gene_variant,,ENST00000360001,;SDF4,upstream_gene_variant,,ENST00000545427,;SDF4,upstream_gene_variant,,ENST00000263741,;SDF4,upstream_gene_variant,,ENST00000459994,;SDF4,upstream_gene_variant,,ENST00000465727,;	1219	25	31	SUCCESS
COL16A1	1307	.	GRCh37	1	32118239	32118239	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	25	61	0	ENST00000373672.3:c.*13G>C			ENST00000373672	NM_001856.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41297.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGGCAGGTG	NONE	.	.	.	.	.	ENSP00000362776	.	71/71	.	.	.	.	.	.	.	.	.	71/71	PASS	ENST00000373672	Transcript	.	.	ENSG00000084636	2193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COGA1_HUMAN	COL16A1	HGNC	.	.	UPI0000203DD1	SNV	COL16A1,3_prime_UTR_variant,,ENST00000271069,;COL16A1,3_prime_UTR_variant,,ENST00000373672,;COL16A1,downstream_gene_variant,,ENST00000440437,;RP11-73M7.6,intron_variant,,ENST00000589462,;RP11-73M7.6,intron_variant,,ENST00000609338,;RP11-73M7.6,intron_variant,,ENST00000609373,;RP11-73M7.6,intron_variant,,ENST00000593188,;RP11-73M7.6,intron_variant,,ENST00000609625,;RP11-73M7.6,intron_variant,,ENST00000609033,;RP11-73M7.6,intron_variant,,ENST00000585413,;RP11-73M7.6,intron_variant,,ENST00000587445,;RP11-73M7.6,intron_variant,,ENST00000610216,;RP11-73M7.6,intron_variant,,ENST00000608332,;RP11-73M7.6,intron_variant,,ENST00000609549,;RP11-73M7.6,intron_variant,,ENST00000607926,;RP11-73M7.6,intron_variant,,ENST00000610043,;RP11-73M7.6,intron_variant,,ENST00000608246,;RP11-73M7.6,intron_variant,,ENST00000585660,;RP11-73M7.6,intron_variant,,ENST00000608888,;RP11-73M7.6,intron_variant,,ENST00000591592,;RP11-73M7.6,intron_variant,,ENST00000591929,;RP11-73M7.6,upstream_gene_variant,,ENST00000588288,;RP11-73M7.6,upstream_gene_variant,,ENST00000445166,;RP11-73M7.9,downstream_gene_variant,,ENST00000581333,;COL16A1,downstream_gene_variant,,ENST00000461217,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,;	5345	61	64	SUCCESS
HOXD1	3231	.	GRCh37	2	177054913	177054913	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	19	0	ENST00000331462.4:c.*43C>T			ENST00000331462	NM_024501.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2271.1	.	RADIA|VARSCANS	.	AGTCCCAGGCG	NONE	.	.	.	.	.	ENSP00000328598	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000331462	Transcript	.	.	ENSG00000128645	5132	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXD1_HUMAN	HOXD1	HGNC	.	.	UPI000012CF80	SNV	HOXD1,3_prime_UTR_variant,,ENST00000331462,;HOXD-AS1,upstream_gene_variant,,ENST00000436126,;HOXD-AS1,upstream_gene_variant,,ENST00000452365,;HOXD-AS1,upstream_gene_variant,,ENST00000417086,;HOXD-AS1,upstream_gene_variant,,ENST00000425005,;HOXD-AS1,upstream_gene_variant,,ENST00000413969,;	1253	19	19	SUCCESS
TMEM194B	0	.	GRCh37	2	191373895	191373895	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	30	0	ENST00000409150.3:c.*20C>A			ENST00000409150	NM_001142645.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46476.1	.	RADIA|VARSCANS	.	ATGAAGTCAAC	NONE	.	.	.	.	.	ENSP00000386292	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000409150	Transcript	.	.	ENSG00000189362	33700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T194B_HUMAN	TMEM194B	HGNC	C9J4F2_HUMAN	.	UPI00015B7C1F	SNV	TMEM194B,3_prime_UTR_variant,,ENST00000409150,;MFSD6,3_prime_UTR_variant,,ENST00000412482,;TMEM194B,downstream_gene_variant,,ENST00000414176,;	1341	30	35	SUCCESS
RAP2B	5912	.	GRCh37	3	152884391	152884391	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	23	47	0	ENST00000323534.2:c.*3357T>G			ENST00000323534	NM_002886.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTCCTCC	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,3_prime_UTR_variant,,ENST00000323534,;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	4363	47	50	SUCCESS
DCAF4L1	285429	.	GRCh37	4	41985108	41985108	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs574187882	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	17	57	0	ENST00000333141.5:c.*108G>A			ENST00000333141	NM_001029955.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATCGCATCC	NONE	.	.	.	.	.	ENSP00000327796	.	1/1	.	.	.	.	.	.	.	.	rs574187882	1/1	PASS	ENST00000333141	Transcript	.	.	ENSG00000182308	27723	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DC4L1_HUMAN	DCAF4L1	HGNC	.	.	UPI0000160C25	SNV	DCAF4L1,3_prime_UTR_variant,,ENST00000333141,;	1396	57	20	SUCCESS
EYA4	2070	.	GRCh37	6	133850118	133850118	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs527715225	.	TCGA-G3-A25U-01	TCGA-G3-A25U-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	13	0	ENST00000367895.5:c.*175C>T			ENST00000367895	NM_004100.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5165.1	.	MUTECT|MUSE	.	TAGTGCTACAG	NONE	.	.	.	.	.	ENSP00000356870	.	20/20	.	.	.	.	.	.	.	.	rs527715225	20/20	PASS	ENST00000367895	Transcript	.	.	ENSG00000112319	3522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EYA4_HUMAN	EYA4	HGNC	.	.	UPI000013D649	SNV	EYA4,3_prime_UTR_variant,,ENST00000431403,;EYA4,3_prime_UTR_variant,,ENST00000355286,;EYA4,3_prime_UTR_variant,,ENST00000355167,;EYA4,3_prime_UTR_variant,,ENST00000531901,;EYA4,3_prime_UTR_variant,,ENST00000367895,;EYA4,3_prime_UTR_variant,,ENST00000525849,;EYA4,intron_variant,,ENST00000430974,;EYA4,downstream_gene_variant,,ENST00000452339,;RP3-323P13.2,intron_variant,,ENST00000607033,;	2559	13	12	SUCCESS
NT5C2	22978	.	GRCh37	10	104849378	104849378	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1373802254	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	197	35	172	1	ENST00000343289.5:c.*51C>T			ENST00000343289	NM_012229.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7544.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCTGTGAGTCC	NONE	.	.	.	.	.	ENSP00000339479	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000343289	Transcript	1	.	ENSG00000076685	8022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	5NTC_HUMAN	NT5C2	HGNC	.	.	UPI0000124F44	SNV	NT5C2,3_prime_UTR_variant,,ENST00000404739,;NT5C2,3_prime_UTR_variant,,ENST00000343289,;CNNM2,3_prime_UTR_variant,,ENST00000369878,;NT5C2,3_prime_UTR_variant,,ENST00000423468,;NT5C2,downstream_gene_variant,,ENST00000421281,;NT5C2,non_coding_transcript_exon_variant,,ENST00000369857,;NT5C2,downstream_gene_variant,,ENST00000469228,;	1825	174	232	SUCCESS
SYCE1	93426	.	GRCh37	10	135368479	135368479	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	3	59	0	ENST00000343131.5:c.*17G>T			ENST00000343131	NM_001143764.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44501.1	.	RADIA|VARSCANS	.	CTCACCAGTAG	NONE	.	.	.	.	.	ENSP00000341282	.	13/13	.	.	.	.	.	.	.	.	.	13/13	oxog	ENST00000343131	Transcript	.	.	ENSG00000171772	28852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYCE1_HUMAN	SYCE1	HGNC	.	.	UPI000013F901	SNV	SYCE1,3_prime_UTR_variant,,ENST00000343131,;SYCE1,intron_variant,,ENST00000303903,;SYCE1,intron_variant,,ENST00000432597,;SPRN,intron_variant,,ENST00000541506,;SYCE1,intron_variant,,ENST00000368517,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;SYCE1,intron_variant,,ENST00000479535,;	1178	59	36	SUCCESS
TSKU	25987	.	GRCh37	11	76508571	76508571	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	5	76	0	ENST00000333090.4:c.*849G>T			ENST00000333090	NM_015516.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8246.1	.	RADIA|VARSCANS	.	TTAGGGCACAT	NONE	.	.	.	.	.	ENSP00000434847	.	2/2	.	.	.	.	.	.	.	.	.	2/2	oxog	ENST00000527881	Transcript	.	.	ENSG00000182704	28850	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSK_HUMAN	TSKU	HGNC	E9PN12_HUMAN,E9PLG7_HUMAN	.	UPI000006E7B7	SNV	TSKU,3_prime_UTR_variant,,ENST00000333090,;TSKU,3_prime_UTR_variant,,ENST00000527881,;TSKU,downstream_gene_variant,,ENST00000533752,;TSKU,downstream_gene_variant,,ENST00000525167,;RP11-21L23.2,upstream_gene_variant,,ENST00000566747,;	2937	76	46	SUCCESS
C12orf39	0	.	GRCh37	12	21684140	21684140	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	176	29	144	0	ENST00000256969.2:c.*11G>T			ENST00000256969	NM_030572.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31757.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TACTGGATTAT	NONE	.	.	.	.	.	ENSP00000256969	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000256969	Transcript	.	.	ENSG00000134548	28139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPXN_HUMAN	C12orf39	HGNC	.	.	UPI0000039EF8	SNV	C12orf39,3_prime_UTR_variant,,ENST00000256969,;GYS2,downstream_gene_variant,,ENST00000261195,;C12orf39,non_coding_transcript_exon_variant,,ENST00000544637,;C12orf39,non_coding_transcript_exon_variant,,ENST00000543800,;C12orf39,intron_variant,,ENST00000537527,;C12orf39,3_prime_UTR_variant,,ENST00000546199,;C12orf39,non_coding_transcript_exon_variant,,ENST00000535033,;C12orf39,non_coding_transcript_exon_variant,,ENST00000535139,;	528	144	205	SUCCESS
ZNF845	91664	.	GRCh37	19	53856991	53856991	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	26	0	ENST00000458035.1:c.*150A>G			ENST00000458035	NM_138374.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46170.1	.	RADIA|VARSCANS	.	GTCACACTGGA	NONE	.	.	.	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,3_prime_UTR_variant,,ENST00000595091,;ZNF845,3_prime_UTR_variant,,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	3180	26	31	SUCCESS
PRDM2	7799	.	GRCh37	1	14149688	14149688	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	18	97	0	ENST00000235372.7:c.*58G>A			ENST00000235372	NM_012231.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS150.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGGACTG	NONE	.	.	.	.	.	ENSP00000235372	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,3_prime_UTR_variant,,ENST00000505823,;PRDM2,3_prime_UTR_variant,,ENST00000235372,;PRDM2,3_prime_UTR_variant,,ENST00000376048,;PRDM2,3_prime_UTR_variant,,ENST00000503842,;	6071	97	106	SUCCESS
SNRNP40	9410	.	GRCh37	1	31732889	31732889	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	23	0	ENST00000263694.4:c.*30T>C			ENST00000263694	NM_004814.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS340.1	.	RADIA|VARSCANS	.	AGACAAGCGGC	NONE	.	.	.	.	.	ENSP00000263694	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000263694	Transcript	.	.	ENSG00000060688	30857	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNR40_HUMAN	SNRNP40	HGNC	A0MNP2_HUMAN	.	UPI000006FD38	SNV	SNRNP40,3_prime_UTR_variant,,ENST00000373720,;SNRNP40,3_prime_UTR_variant,,ENST00000446633,;SNRNP40,3_prime_UTR_variant,,ENST00000263694,;SNRNP40,non_coding_transcript_exon_variant,,ENST00000489853,;SNRNP40,non_coding_transcript_exon_variant,,ENST00000491106,;SNRNP40,non_coding_transcript_exon_variant,,ENST00000486941,;RP11-490K7.4,downstream_gene_variant,,ENST00000452686,;	1123	23	37	SUCCESS
UBE2U	148581	.	GRCh37	1	64709883	64709883	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	21	0	ENST00000371076.3:c.*67A>G			ENST00000371076	NM_152489.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS627.1	.	RADIA|VARSCANS	.	GGAGAAATTCT	NONE	.	.	.	.	.	ENSP00000360116	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000371076	Transcript	.	.	ENSG00000177414	28559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBE2U_HUMAN	UBE2U	HGNC	.	.	UPI000006E065	SNV	UBE2U,3_prime_UTR_variant,,ENST00000371076,;UBE2U,intron_variant,,ENST00000608956,;UBE2U,intron_variant,,ENST00000608020,;UBE2U,intron_variant,,ENST00000371077,;UBE2U,non_coding_transcript_exon_variant,,ENST00000464349,;	992	21	18	SUCCESS
LSS	4047	.	GRCh37	21	47608664	47608664	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	45	0	ENST00000356396.4:c.*110T>A			ENST00000356396	NM_001001438.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13733.1	.	RADIA|VARSCANS	.	TACTGACACTG	NONE	.	.	.	.	.	ENSP00000380837	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000397728	Transcript	.	.	ENSG00000160285	6708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERG7_HUMAN	LSS	HGNC	.	.	UPI000012A14D	SNV	LSS,stop_gained,p.Cys81Ter,ENST00000419093,;LSS,3_prime_UTR_variant,,ENST00000397728,;LSS,3_prime_UTR_variant,,ENST00000356396,;LSS,downstream_gene_variant,,ENST00000457828,;AP001468.1,downstream_gene_variant,,ENST00000594486,;SPATC1L,upstream_gene_variant,,ENST00000330205,;LSS,downstream_gene_variant,,ENST00000522411,;SPATC1L,upstream_gene_variant,,ENST00000291672,;AP001468.58,non_coding_transcript_exon_variant,,ENST00000415026,;LSS,non_coding_transcript_exon_variant,,ENST00000491729,;LSS,downstream_gene_variant,,ENST00000474319,;	4632	45	33	SUCCESS
VPRBP	0	.	GRCh37	3	51434157	51434157	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	12	78	0	ENST00000423656.1:c.*433C>A			ENST00000423656				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACCTGAATTC	NONE	.	.	.	.	.	ENSP00000393183	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000423656	Transcript	.	.	ENSG00000145041	30911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	VPRBP	HGNC	H0Y4P3_HUMAN	.	UPI000020AC56	SNV	VPRBP,3_prime_UTR_variant,,ENST00000423656,;RBM15B,3_prime_UTR_variant,,ENST00000323686,;VPRBP,downstream_gene_variant,,ENST00000335891,;	3670	78	97	SUCCESS
PRRC2A	7916	.	GRCh37	6	31605366	31605366	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A25V-01	TCGA-G3-A25V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	18	0	ENST00000376007.4:c.*3G>T			ENST00000376007	NM_080686.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4708.1	.	RADIA|SOMATICSNIPER	.	TGAGGGAGTTC	NONE	.	.	.	.	.	ENSP00000365201	.	31/31	.	.	.	.	.	.	.	.	.	31/31	oxog	ENST00000376033	Transcript	.	.	ENSG00000204469	13918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRC2A_HUMAN	PRRC2A	HGNC	.	.	UPI000020E56F	SNV	PRRC2A,3_prime_UTR_variant,,ENST00000376033,;PRRC2A,3_prime_UTR_variant,,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000375976,;BAG6,downstream_gene_variant,,ENST00000362049,;BAG6,downstream_gene_variant,,ENST00000437771,;BAG6,downstream_gene_variant,,ENST00000375964,;BAG6,downstream_gene_variant,,ENST00000211379,;BAG6,downstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000404765,;BAG6,downstream_gene_variant,,ENST00000422948,;BAG6,downstream_gene_variant,,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000470875,;BAG6,downstream_gene_variant,,ENST00000464126,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000462617,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000482441,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000492691,;PRRC2A,downstream_gene_variant,,ENST00000487089,;PRRC2A,downstream_gene_variant,,ENST00000469501,;PRRC2A,downstream_gene_variant,,ENST00000484787,;BAG6,downstream_gene_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000460302,;PRRC2A,downstream_gene_variant,,ENST00000487839,;	6711	18	15	SUCCESS
SFXN2	118980	.	GRCh37	10	104497568	104497568	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	26	0	ENST00000369893.5:c.*49T>C			ENST00000369893	NM_178858.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7539.1	.	RADIA|VARSCANS	.	GCTCCTCCTTA	NONE	.	.	.	.	.	ENSP00000358909	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000369893	Transcript	.	.	ENSG00000156398	16086	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFXN2_HUMAN	SFXN2	HGNC	R4GN74_HUMAN,R4GMW0_HUMAN	.	UPI0000001241	SNV	SFXN2,3_prime_UTR_variant,,ENST00000369893,;SFXN2,3_prime_UTR_variant,,ENST00000480358,;SFXN2,3_prime_UTR_variant,,ENST00000459894,;	1185	26	27	SUCCESS
C14orf119	55017	.	GRCh37	14	23568468	23568468	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	27	0	ENST00000319074.4:c.*1178C>T			ENST00000319074	NM_017924.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9588.1	.	RADIA|VARSCANS	.	CTTACCCCCTG	NONE	.	.	.	.	.	ENSP00000322238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319074	Transcript	.	.	ENSG00000179933	20270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CN119_HUMAN	C14orf119	HGNC	.	.	UPI000006E710	SNV	C14orf119,3_prime_UTR_variant,,ENST00000319074,;C14orf119,downstream_gene_variant,,ENST00000554203,;ACIN1,upstream_gene_variant,,ENST00000605057,;ACIN1,upstream_gene_variant,,ENST00000262710,;ACIN1,upstream_gene_variant,,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000457657,;	2457	27	27	SUCCESS
RASGRF1	5923	.	GRCh37	15	79254415	79254415	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	19	0	ENST00000419573.3:c.*71T>C			ENST00000419573	NM_002891.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10309.1	.	RADIA|VARSCANS	.	GTGAAACCAAA	NONE	.	.	.	.	.	ENSP00000405963	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000419573	Transcript	.	.	ENSG00000058335	9875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RASGRF1	HGNC	J3KQP9_HUMAN	.	UPI000013D1F1	SNV	RASGRF1,3_prime_UTR_variant,,ENST00000558480,;RASGRF1,3_prime_UTR_variant,,ENST00000419573,;RASGRF1,3_prime_UTR_variant,,ENST00000394745,;	4168	19	24	SUCCESS
TMEM99	147184	.	GRCh37	17	38991628	38991628	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1375106384	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	66	0	ENST00000301665.3:c.*83A>G			ENST00000301665	NM_145274.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42319.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATATGATT	NONE	.	.	.	.	.	ENSP00000301665	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301665	Transcript	.	.	ENSG00000167920	28305	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMM99_HUMAN	TMEM99	HGNC	.	.	UPI0000E5924C	SNV	TMEM99,3_prime_UTR_variant,,ENST00000301665,;TMEM99,downstream_gene_variant,,ENST00000436612,;	1164	66	57	SUCCESS
CACNG5	27091	.	GRCh37	17	64873421	64873421	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs781687870	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	4	13	0				ENST00000307139	NM_145811.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11665.1	.	RADIA|MUTECT|VARSCANS	.	CGTGGCGACTA	NONE	byFrequency	.	.	.	.	ENSP00000436836	.	2/6	.	.	.	.	.	.	.	.	rs781687870	2/6	PASS	ENST00000533854	Transcript	.	.	ENSG00000075429	1409	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCG5_HUMAN	CACNG5	HGNC	.	.	UPI0000001240	SNV	CACNG5,5_prime_UTR_variant,,ENST00000533854,;CACNG5,upstream_gene_variant,,ENST00000169565,;CACNG5,upstream_gene_variant,,ENST00000307139,;	208	13	25	SUCCESS
UQCRH	7388	.	GRCh37	1	46782285	46782285	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	125	23	137	0	ENST00000311672.5:c.*29C>T			ENST00000311672	NM_006004.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30704.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTTCATCAT	NONE	.	.	.	.	.	ENSP00000309565	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000311672	Transcript	.	.	ENSG00000173660	12590	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	QCR6_HUMAN	UQCRH	HGNC	.	.	UPI0000137A5B	SNV	UQCRH,3_prime_UTR_variant,,ENST00000311672,;UQCRH,non_coding_transcript_exon_variant,,ENST00000460947,;UQCRH,non_coding_transcript_exon_variant,,ENST00000489056,;UQCRH,non_coding_transcript_exon_variant,,ENST00000496387,;	441	137	148	SUCCESS
UQCR10	29796	.	GRCh37	22	30165722	30165722	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	4	43	0	ENST00000330029.6:c.*14C>A			ENST00000330029	NM_001003684.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46680.1	.	RADIA|VARSCANS	.	AGGCCCCCATC	NONE	.	.	.	.	.	ENSP00000332887	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000330029	Transcript	.	.	ENSG00000184076	30863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	QCR9_HUMAN	UQCR10	HGNC	.	.	UPI0000169236	SNV	UQCR10,3_prime_UTR_variant,,ENST00000330029,;UQCR10,3_prime_UTR_variant,,ENST00000401406,;ZMAT5,upstream_gene_variant,,ENST00000397781,;ZMAT5,upstream_gene_variant,,ENST00000344318,;ZMAT5,upstream_gene_variant,,ENST00000489010,;	236	43	39	SUCCESS
VAMP8	8673	.	GRCh37	2	85808885	85808885	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	30	50	0	ENST00000263864.5:c.*46C>G			ENST00000263864	NM_003761.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1979.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACCCTCCAT	NONE	.	.	.	.	.	ENSP00000263864	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000263864	Transcript	.	.	ENSG00000118640	12647	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAMP8_HUMAN	VAMP8	HGNC	C9JXZ5_HUMAN	.	UPI000006F375	SNV	VAMP8,3_prime_UTR_variant,,ENST00000263864,;VAMP8,3_prime_UTR_variant,,ENST00000432071,;VAMP8,3_prime_UTR_variant,,ENST00000409760,;VAMP5,upstream_gene_variant,,ENST00000306384,;	505	50	67	SUCCESS
AC080008.1	0	.	GRCh37	3	124418823	124418823	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	4	39	0				ENST00000584173				0	.	.	.	.	.	A	.	miRNA	YES	.	.	RADIA|VARSCANS	.	GTAACCCCTGG	NONE	.	2940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000584173	Transcript	.	.	ENSG00000263775	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	AC080008.1	Clone_based_ensembl_gene	.	.	.	SNV	KALRN,missense_variant,p.Pro950Thr,ENST00000291478,;KALRN,missense_variant,p.Pro2616Thr,ENST00000354186,;KALRN,missense_variant,p.Pro918Thr,ENST00000428018,;KALRN,missense_variant,p.Pro2647Thr,ENST00000360013,;AC080008.1,upstream_gene_variant,,ENST00000584173,;	.	39	41	SUCCESS
KIAA1324L	0	.	GRCh37	7	86509653	86509653	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	11	0	ENST00000450689.2:c.*134G>T			ENST00000450689	NM_001142749.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47632.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TCCTTCCCTTT	NONE	.	.	.	.	.	ENSP00000413445	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,3_prime_UTR_variant,,ENST00000416314,;KIAA1324L,3_prime_UTR_variant,,ENST00000297222,;KIAA1324L,3_prime_UTR_variant,,ENST00000444627,;KIAA1324L,3_prime_UTR_variant,,ENST00000450689,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;	3410	11	19	SUCCESS
ANGPT2	285	.	GRCh37	8	6357519	6357519	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A25W-01	TCGA-G3-A25W-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	30	0	ENST00000325203.5:c.*3103C>G			ENST00000325203				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5958.1	.	RADIA|MUTECT|VARSCANS	.	CATAAGGGTGG	NONE	.	.	.	.	.	ENSP00000314897	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000325203	Transcript	.	.	ENSG00000091879	485	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ANGP2_HUMAN	ANGPT2	HGNC	Q9H4C0_HUMAN	.	UPI0000034767	SNV	ANGPT2,3_prime_UTR_variant,,ENST00000415216,;ANGPT2,3_prime_UTR_variant,,ENST00000325203,;MCPH1,intron_variant,,ENST00000344683,;ANGPT2,downstream_gene_variant,,ENST00000338312,;MCPH1,intron_variant,,ENST00000519221,;MCPH1,intron_variant,,ENST00000521129,;	5069	30	20	SUCCESS
FOXL1	2300	.	GRCh37	16	86614827	86614827	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	4	39	0	ENST00000320241.3:c.*1460T>C			ENST00000320241	NM_005250.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10959.1	.	RADIA|MUTECT|VARSCANS	.	TTTTCTGAACC	NONE	.	.	.	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,3_prime_UTR_variant,,ENST00000320241,;FOXL1,downstream_gene_variant,,ENST00000593625,;	2713	39	39	SUCCESS
PIGP	51227	.	GRCh37	21	38437856	38437856	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	8	57	0	ENST00000464265.1:c.*26A>T			ENST00000464265	NM_153681.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13649.1	.	MUTECT|MUSE|VARSCANS	.	CGTGCTTGGTG	NONE	.	.	.	.	.	ENSP00000420037	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000464265	Transcript	.	.	ENSG00000185808	3046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PIGP_HUMAN	PIGP	HGNC	.	.	UPI00001AFA97	SNV	PIGP,3_prime_UTR_variant,,ENST00000399102,;PIGP,3_prime_UTR_variant,,ENST00000399098,;PIGP,3_prime_UTR_variant,,ENST00000399103,;PIGP,3_prime_UTR_variant,,ENST00000464265,;PIGP,3_prime_UTR_variant,,ENST00000360525,;PIGP,downstream_gene_variant,,ENST00000430792,;PIGP,non_coding_transcript_exon_variant,,ENST00000329667,;PIGP,downstream_gene_variant,,ENST00000479152,;	727	57	103	SUCCESS
YIPF4	84272	.	GRCh37	2	32530764	32530764	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	6	16	0	ENST00000238831.4:c.*69G>C			ENST00000238831	NM_032312.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1781.1	.	MUTECT|MUSE	.	TGAAGGAATTG	NONE	.	.	.	.	.	ENSP00000238831	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000238831	Transcript	.	.	ENSG00000119820	28145	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	YIPF4_HUMAN	YIPF4	HGNC	.	.	UPI0000073BBE	SNV	YIPF4,3_prime_UTR_variant,,ENST00000238831,;YIPF4,intron_variant,,ENST00000441084,;YIPF4,3_prime_UTR_variant,,ENST00000437765,;	1050	16	28	SUCCESS
FRMD4B	23150	.	GRCh37	3	69220928	69220928	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs987206179	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	25	0	ENST00000398540.3:c.*84C>A			ENST00000398540	NM_015123.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46863.1	.	RADIA|VARSCANS	.	AAAACGAACAT	NONE	.	.	.	.	.	ENSP00000381549	.	23/23	.	.	.	.	.	.	.	.	.	23/23	oxog	ENST00000398540	Transcript	.	.	ENSG00000114541	24886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FRM4B_HUMAN	FRMD4B	HGNC	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN	.	UPI00001C1DF1	SNV	FRMD4B,3_prime_UTR_variant,,ENST00000398540,;FRMD4B,3_prime_UTR_variant,,ENST00000478263,;FRMD4B,3_prime_UTR_variant,,ENST00000542259,;	3273	25	28	SUCCESS
SREK1	140890	.	GRCh37	5	65440291	65440291	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs755032772	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	26	0				ENST00000380918	NM_139168.3	29		0	.	.	.	.	.	T	A	protein_coding	YES	CCDS43323.1	87	RADIA|VARSCANS	.	TCGGCGGTGAC	NONE	byFrequency	.	PROSITE_profiles:PS50102,hmmpanther:PTHR32343:SF7,hmmpanther:PTHR32343,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	.	.	ENSP00000334538	.	1/12	.	.	.	.	.	.	.	.	rs755032772	1/12	oxog	ENST00000334121	Transcript	.	.	ENSG00000153914	17882	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SREK1_HUMAN	SREK1	HGNC	Q69YM5_HUMAN,E5RJ76_HUMAN	.	UPI00000467F2	SNV	SREK1,synonymous_variant,p.%3D,ENST00000334121,;SREK1,intron_variant,,ENST00000521691,;SREK1,upstream_gene_variant,,ENST00000380918,;AC025442.3,non_coding_transcript_exon_variant,,ENST00000521596,;SREK1,non_coding_transcript_exon_variant,,ENST00000523851,;SREK1,synonymous_variant,p.%3D,ENST00000522912,;SREK1,non_coding_transcript_exon_variant,,ENST00000524111,;SREK1,non_coding_transcript_exon_variant,,ENST00000520058,;SREK1,intron_variant,,ENST00000520953,;	246	26	27	SUCCESS
FAM83A	84985	.	GRCh37	8	124221781	124221781	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs772857835	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	16	67	0	ENST00000518448.1:c.*1853G>T			ENST00000518448				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6340.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATGAGGTTAG	NONE	.	.	.	.	.	ENSP00000428876	.	5/5	.	.	.	.	.	.	.	.	rs772857835	5/5	PASS	ENST00000518448	Transcript	.	.	ENSG00000147689	28210	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA83A_HUMAN	FAM83A	HGNC	.	.	UPI000019275C	SNV	FAM83A,3_prime_UTR_variant,,ENST00000276699,;FAM83A,3_prime_UTR_variant,,ENST00000522648,;FAM83A,3_prime_UTR_variant,,ENST00000518448,;FAM83A,downstream_gene_variant,,ENST00000318462,;FAM83A,downstream_gene_variant,,ENST00000546351,;FAM83A,downstream_gene_variant,,ENST00000536633,;	5172	67	85	SUCCESS
MAGEB18	286514	.	GRCh37	X	26158150	26158150	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A25Y-01	TCGA-G3-A25Y-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	22	53	0	ENST00000325250.1:c.*16C>A			ENST00000325250	NM_173699.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14216.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTCTTCAC	NONE	.	.	.	.	.	ENSP00000314543	.	2/3	.	.	.	.	.	.	.	.	.	2/3	PASS	ENST00000325250	Transcript	.	.	ENSG00000176774	28515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGBI_HUMAN	MAGEB18	HGNC	.	.	UPI00001415E3	SNV	MAGEB18,3_prime_UTR_variant,,ENST00000325250,;	1235	53	72	SUCCESS
CCDC85B	11007	.	GRCh37	11	65658948	65658948	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	50	0	ENST00000312579.2:c.*85T>C			ENST00000312579	NM_006848.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8120.1	.	RADIA|VARSCANS	.	CGCCGTCCTGG	NONE	.	.	.	.	.	ENSP00000311695	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000312579	Transcript	.	.	ENSG00000175602	24926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CC85B_HUMAN	CCDC85B	HGNC	.	.	UPI0000071630	SNV	CCDC85B,3_prime_UTR_variant,,ENST00000312579,;FIBP,upstream_gene_variant,,ENST00000357519,;FOSL1,downstream_gene_variant,,ENST00000448083,;FOSL1,downstream_gene_variant,,ENST00000531493,;FOSL1,downstream_gene_variant,,ENST00000312562,;FOSL1,downstream_gene_variant,,ENST00000532401,;FOSL1,downstream_gene_variant,,ENST00000534222,;FIBP,upstream_gene_variant,,ENST00000338369,;FIBP,upstream_gene_variant,,ENST00000533045,;FIBP,upstream_gene_variant,,ENST00000426652,;FIBP,upstream_gene_variant,,ENST00000532229,;FIBP,upstream_gene_variant,,ENST00000532679,;FIBP,upstream_gene_variant,,ENST00000528937,;FIBP,upstream_gene_variant,,ENST00000533037,;FIBP,upstream_gene_variant,,ENST00000442885,;	1074	50	26	SUCCESS
SOX12	6666	.	GRCh37	20	308002	308002	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	15	0	ENST00000342665.2:c.*486C>T			ENST00000342665	NM_006943.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12995.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TTATCCCCGGA	NONE	.	.	.	.	.	ENSP00000347646	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342665	Transcript	.	.	ENSG00000177732	11198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX12_HUMAN	SOX12	HGNC	.	.	UPI0000167B9D	SNV	SOX12,3_prime_UTR_variant,,ENST00000544632,;SOX12,3_prime_UTR_variant,,ENST00000342665,;RP5-1103G7.4,intron_variant,,ENST00000442637,;RP5-1103G7.4,upstream_gene_variant,,ENST00000414676,;	1764	15	17	SUCCESS
TST	7263	.	GRCh37	22	37407014	37407014	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	27	0	ENST00000249042.3:c.*54T>C			ENST00000249042	NM_003312.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13938.1	.	MUTECT|MUSE	.	CTGTAAGTCAT	NONE	.	.	.	.	.	ENSP00000385828	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000403892	Transcript	.	.	ENSG00000128311	12388	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THTR_HUMAN	TST	HGNC	B1AH48_HUMAN	.	UPI0000167B82	SNV	TST,3_prime_UTR_variant,,ENST00000249042,;TST,3_prime_UTR_variant,,ENST00000403892,;TEX33,upstream_gene_variant,,ENST00000402860,;TEX33,upstream_gene_variant,,ENST00000405091,;TEX33,upstream_gene_variant,,ENST00000381821,;Y_RNA,upstream_gene_variant,,ENST00000516603,;	1683	27	16	SUCCESS
HES6	55502	.	GRCh37	2	239142231	239142231	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	44	80	0				ENST00000272937				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2527.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATGCCTTCT	NONE	.	4677	.	.	.	ENSP00000272937	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000272937	Transcript	.	.	ENSG00000144485	18254	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HES6_HUMAN	HES6	HGNC	.	.	UPI00000719E1	SNV	HES6,downstream_gene_variant,,ENST00000409002,;AC016757.3,upstream_gene_variant,,ENST00000334973,;AC016757.3,upstream_gene_variant,,ENST00000409942,;AC016757.3,upstream_gene_variant,,ENST00000409070,;AC016757.3,upstream_gene_variant,,ENST00000409376,;HES6,downstream_gene_variant,,ENST00000272937,;HES6,downstream_gene_variant,,ENST00000409160,;AC096574.4,non_coding_transcript_exon_variant,,ENST00000456601,;AC016757.3,upstream_gene_variant,,ENST00000470346,;AC016757.3,upstream_gene_variant,,ENST00000475669,;AC016757.3,upstream_gene_variant,,ENST00000466075,;AC096574.4,upstream_gene_variant,,ENST00000438457,;	.	80	90	SUCCESS
PCDHB8	56128	.	GRCh37	5	140563257	140563257	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs377277959	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	21	72	0				ENST00000239444	NM_019120.3	375		0	A:0.0002	.	.	.	.	A	S/T	protein_coding	YES	CCDS4251.1	1123	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGACTCCGGA	NONE	byFrequency|byCluster	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	A:0	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	rs377277959	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.926)	.	deleterious_low_confidence(0.02)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Ser375Thr,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	2278	72	51	SUCCESS
GJA1	2697	.	GRCh37	6	121769148	121769148	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	57	0	ENST00000282561.3:c.*6G>C			ENST00000282561	NM_000165.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5123.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACAGGCTTG	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;	1312	57	44	SUCCESS
FAM133A	286499	.	GRCh37	X	92966760	92966760	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1028581480	.	TCGA-G3-A25Z-01	TCGA-G3-A25Z-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	56	56	0	ENST00000322139.4:c.*1595G>A			ENST00000322139	NM_001171111.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATAGTGATG	NONE	.	.	.	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,3_prime_UTR_variant,,ENST00000355813,;FAM133A,3_prime_UTR_variant,,ENST00000538690,;FAM133A,3_prime_UTR_variant,,ENST00000332647,;FAM133A,3_prime_UTR_variant,,ENST00000322139,;	2903	56	81	SUCCESS
SMARCAL1	50485	.	GRCh37	2	217347711	217347711	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	51	0	ENST00000357276.4:c.*11A>C			ENST00000357276	NM_014140.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2403.1	.	MUTECT|MUSE	.	GCAAAAAGAAA	NONE	.	.	.	.	.	ENSP00000349823	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000357276	Transcript	.	.	ENSG00000138375	11102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SMAL1_HUMAN	SMARCAL1	HGNC	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN	.	UPI000000DA30	SNV	SMARCAL1,3_prime_UTR_variant,,ENST00000357276,;SMARCAL1,3_prime_UTR_variant,,ENST00000392128,;SMARCAL1,3_prime_UTR_variant,,ENST00000358207,;AC098820.3,intron_variant,,ENST00000453157,;AC098820.4,downstream_gene_variant,,ENST00000414135,;AC098820.3,downstream_gene_variant,,ENST00000438978,;AC098820.3,downstream_gene_variant,,ENST00000431856,;	3206	51	55	SUCCESS
PLN	5350	.	GRCh37	6	118880745	118880745	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1292892223	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	44	123	1	ENST00000357525.5:c.*502C>T			ENST00000357525	NM_002667.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5120.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACATCTGTTA	NONE	.	.	.	.	.	ENSP00000350132	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357525	Transcript	.	.	ENSG00000198523	9080	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPLA_HUMAN	PLN	HGNC	Q5R352_HUMAN	.	UPI0000113623	SNV	PLN,3_prime_UTR_variant,,ENST00000357525,;CEP85L,intron_variant,,ENST00000434604,;CEP85L,intron_variant,,ENST00000360290,;CEP85L,intron_variant,,ENST00000419517,;CEP85L,intron_variant,,ENST00000392500,;CEP85L,intron_variant,,ENST00000368488,;CEP85L,intron_variant,,ENST00000368491,;	853	124	133	SUCCESS
REPIN1	29803	.	GRCh37	7	150070460	150070460	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs1348962012	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	82	0	ENST00000397281.2:c.*426A>C			ENST00000397281	NM_013400.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47745.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTAAATGAA	NONE	.	426	.	.	.	ENSP00000417291	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000489432	Transcript	.	.	ENSG00000214022	17922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	REPIN1	HGNC	E7EVL6_HUMAN,C9J3L7_HUMAN	.	UPI0001596898	SNV	REPIN1,3_prime_UTR_variant,,ENST00000425389,;REPIN1,3_prime_UTR_variant,,ENST00000397281,;REPIN1,3_prime_UTR_variant,,ENST00000444957,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000489432,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000540729,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000473391,;	.	82	77	SUCCESS
PEG10	23089	.	GRCh37	7	94294842	94294842	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs771711231	.	TCGA-G3-A3CH-01	TCGA-G3-A3CH-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	64	0	ENST00000482108.1:c.*996C>T			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGGACGAGAC	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	rs771711231	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,3_prime_UTR_variant,,ENST00000488574,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	2453	64	54	SUCCESS
UTS2	10911	.	GRCh37	1	7906821	7906821	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	4	77	0				ENST00000361696	NM_006786.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS90.1	.	MUTECT|MUSE	.	CTTTCTTCTCT	NONE	.	1005	.	.	.	ENSP00000054668	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000054668	Transcript	.	.	ENSG00000049247	12636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UTS2_HUMAN	UTS2	HGNC	.	.	UPI000013C565	SNV	UTS2,missense_variant,p.Arg115Gly,ENST00000377516,;UTS2,downstream_gene_variant,,ENST00000361696,;PER3,downstream_gene_variant,,ENST00000377532,;UTS2,downstream_gene_variant,,ENST00000054668,;PER3,downstream_gene_variant,,ENST00000361923,;PER3,downstream_gene_variant,,ENST00000494684,;	.	77	55	SUCCESS
MIS18A	54069	.	GRCh37	21	33641227	33641227	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A3CI-01	TCGA-G3-A3CI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	18	0	ENST00000290130.3:c.*121C>G			ENST00000290130	NM_018944.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13611.1	.	MUSE|VARSCANS	.	GTTTCGCATGC	NONE	.	.	.	.	.	ENSP00000290130	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000290130	Transcript	.	.	ENSG00000159055	1286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MS18A_HUMAN	MIS18A	HGNC	.	.	UPI0000000C0D	SNV	MIS18A,3_prime_UTR_variant,,ENST00000290130,;MIS18A,downstream_gene_variant,,ENST00000486363,;	878	18	19	SUCCESS
FAH	2184	.	GRCh37	15	80478636	80478636	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	48	0	ENST00000261755.5:c.*85G>T			ENST00000261755				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10314.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCTGGTCCG	NONE	.	.	.	.	.	ENSP00000385080	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000407106	Transcript	1	.	ENSG00000103876	3579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAAA_HUMAN	FAH	HGNC	Q53XA7_HUMAN,H0YLC7_HUMAN	.	UPI000012A422	SNV	FAH,3_prime_UTR_variant,,ENST00000407106,;FAH,3_prime_UTR_variant,,ENST00000539156,;FAH,3_prime_UTR_variant,,ENST00000561421,;FAH,3_prime_UTR_variant,,ENST00000261755,;FAH,non_coding_transcript_exon_variant,,ENST00000559217,;	1500	48	57	SUCCESS
DEXI	28955	.	GRCh37	16	11035558	11035558	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	358	25	471	0	ENST00000331808.4:c.*17C>T			ENST00000331808	NM_014015.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10545.1	.	MUTECT|MUSE	.	GAGGGGAACAG	NONE	.	.	.	.	.	ENSP00000330509	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000331808	Transcript	.	.	ENSG00000182108	13267	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEXI_HUMAN	DEXI	HGNC	.	.	UPI0000001C63	SNV	DEXI,3_prime_UTR_variant,,ENST00000331808,;CLEC16A,upstream_gene_variant,,ENST00000409790,;CLEC16A,upstream_gene_variant,,ENST00000409552,;RP11-876N24.4,non_coding_transcript_exon_variant,,ENST00000573379,;RP11-876N24.5,upstream_gene_variant,,ENST00000570440,;DEXI,non_coding_transcript_exon_variant,,ENST00000469379,;DEXI,non_coding_transcript_exon_variant,,ENST00000570992,;	760	471	383	SUCCESS
LRRC48	0	.	GRCh37	17	17875730	17875730	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs866099764	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	23	66	0				ENST00000313838	NM_001130090.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42270.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCCACTCTC	NONE	.	19	.	.	.	ENSP00000368818	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000379504	Transcript	.	.	ENSG00000175662	11984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM1L2_HUMAN	TOM1L2	HGNC	K7ENB0_HUMAN	.	UPI00001C09C6	SNV	TOM1L2,5_prime_UTR_variant,,ENST00000579586,;TOM1L2,5_prime_UTR_variant,,ENST00000535933,;TOM1L2,upstream_gene_variant,,ENST00000540946,;LRRC48,upstream_gene_variant,,ENST00000313838,;TOM1L2,upstream_gene_variant,,ENST00000395739,;TOM1L2,upstream_gene_variant,,ENST00000581396,;LRRC48,upstream_gene_variant,,ENST00000584166,;LRRC48,upstream_gene_variant,,ENST00000399182,;LRRC48,upstream_gene_variant,,ENST00000581264,;LRRC48,upstream_gene_variant,,ENST00000582416,;TOM1L2,upstream_gene_variant,,ENST00000379504,;TOM1L2,upstream_gene_variant,,ENST00000542206,;LRRC48,upstream_gene_variant,,ENST00000579977,;TOM1L2,upstream_gene_variant,,ENST00000318094,;LRRC48,upstream_gene_variant,,ENST00000479684,;LRRC48,upstream_gene_variant,,ENST00000399187,;LRRC48,upstream_gene_variant,,ENST00000411504,;LRRC48,upstream_gene_variant,,ENST00000585108,;LRRC48,upstream_gene_variant,,ENST00000585008,;TOM1L2,upstream_gene_variant,,ENST00000537091,;ATPAF2,downstream_gene_variant,,ENST00000584205,;LRRC48,upstream_gene_variant,,ENST00000490517,;	.	66	75	SUCCESS
FKRP	79147	.	GRCh37	19	47260727	47260727	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	47	0	ENST00000318584.5:c.*532T>G			ENST00000318584	NM_024301.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12691.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTTGCTTCCGC	NONE	.	.	.	.	.	ENSP00000326570	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000318584	Transcript	1	.	ENSG00000181027	17997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FKRP_HUMAN	FKRP	HGNC	M0R342_HUMAN,M0R2U3_HUMAN,M0R274_HUMAN,M0R1M1_HUMAN,M0R112_HUMAN,M0R0G0_HUMAN,M0R092_HUMAN,M0R016_HUMAN,M0R005_HUMAN,M0QZ68_HUMAN,M0QZ46_HUMAN,M0QYV8_HUMAN,M0QYV4_HUMAN,M0QYR2_HUMAN,M0QXT8_HUMAN,M0QX03_HUMAN	.	UPI00000732D0	SNV	FKRP,3_prime_UTR_variant,,ENST00000318584,;FKRP,3_prime_UTR_variant,,ENST00000391909,;FKRP,downstream_gene_variant,,ENST00000602250,;FKRP,downstream_gene_variant,,ENST00000593902,;FKRP,downstream_gene_variant,,ENST00000600834,;FKRP,downstream_gene_variant,,ENST00000596460,;FKRP,downstream_gene_variant,,ENST00000600227,;FKRP,downstream_gene_variant,,ENST00000597313,;FKRP,downstream_gene_variant,,ENST00000593800,;FKRP,downstream_gene_variant,,ENST00000595570,;FKRP,downstream_gene_variant,,ENST00000593875,;FKRP,downstream_gene_variant,,ENST00000600629,;FKRP,downstream_gene_variant,,ENST00000600005,;FKRP,downstream_gene_variant,,ENST00000594467,;FKRP,downstream_gene_variant,,ENST00000601299,;FKRP,downstream_gene_variant,,ENST00000595868,;FKRP,downstream_gene_variant,,ENST00000593877,;FKRP,downstream_gene_variant,,ENST00000598271,;FKRP,downstream_gene_variant,,ENST00000602181,;FKRP,intron_variant,,ENST00000597339,;FKRP,intron_variant,,ENST00000600646,;FKRP,downstream_gene_variant,,ENST00000596974,;FKRP,downstream_gene_variant,,ENST00000600977,;FKRP,downstream_gene_variant,,ENST00000600872,;	2317	47	33	SUCCESS
FCER1G	2207	.	GRCh37	1	161188774	161188774	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	110	188	0	ENST00000289902.1:c.*41T>G			ENST00000289902	NM_004106.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1225.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTGGTTCTTC	NONE	.	.	.	.	.	ENSP00000289902	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000289902	Transcript	.	.	ENSG00000158869	3611	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCERG_HUMAN	FCER1G	HGNC	.	.	UPI0000052756	SNV	FCER1G,3_prime_UTR_variant,,ENST00000289902,;FCER1G,intron_variant,,ENST00000367992,;APOA2,downstream_gene_variant,,ENST00000470459,;NDUFS2,downstream_gene_variant,,ENST00000392179,;APOA2,downstream_gene_variant,,ENST00000463273,;NDUFS2,downstream_gene_variant,,ENST00000367993,;APOA2,downstream_gene_variant,,ENST00000464492,;AL590714.1,upstream_gene_variant,,ENST00000594609,;APOA2,downstream_gene_variant,,ENST00000367990,;APOA2,downstream_gene_variant,,ENST00000468465,;APOA2,downstream_gene_variant,,ENST00000469730,;APOA2,downstream_gene_variant,,ENST00000463812,;APOA2,downstream_gene_variant,,ENST00000491350,;FCER1G,non_coding_transcript_exon_variant,,ENST00000490414,;NDUFS2,downstream_gene_variant,,ENST00000468828,;NDUFS2,downstream_gene_variant,,ENST00000483804,;NDUFS2,downstream_gene_variant,,ENST00000493849,;NDUFS2,downstream_gene_variant,,ENST00000465923,;APOA2,downstream_gene_variant,,ENST00000481511,;APOA2,downstream_gene_variant,,ENST00000481413,;	327	189	208	SUCCESS
MAP10	54627	.	GRCh37	1	232945559	232945559	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	208	14	131	0	ENST00000418460.1:c.*1646A>C			ENST00000418460	NM_019090.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44334.1	.	MUTECT|MUSE	.	ATCAAAATATT	NONE	.	.	.	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,3_prime_UTR_variant,,ENST00000418460,;	4917	131	222	SUCCESS
SLC35C2	51006	.	GRCh37	20	44978974	44978974	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	25	55	0	ENST00000243896.2:c.*59T>A			ENST00000243896	NM_173179.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13396.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCACAGTGAG	NONE	.	.	.	.	.	ENSP00000361301	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000372227	Transcript	.	.	ENSG00000080189	17117	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S35C2_HUMAN	SLC35C2	HGNC	.	.	UPI00000015E5	SNV	SLC35C2,3_prime_UTR_variant,,ENST00000543605,;SLC35C2,3_prime_UTR_variant,,ENST00000372229,;SLC35C2,3_prime_UTR_variant,,ENST00000372230,;SLC35C2,3_prime_UTR_variant,,ENST00000317734,;SLC35C2,3_prime_UTR_variant,,ENST00000243896,;SLC35C2,3_prime_UTR_variant,,ENST00000372227,;SLC35C2,downstream_gene_variant,,ENST00000424568,;SLC35C2,downstream_gene_variant,,ENST00000420518,;SLC35C2,non_coding_transcript_exon_variant,,ENST00000493599,;SLC35C2,downstream_gene_variant,,ENST00000484318,;SLC35C2,downstream_gene_variant,,ENST00000481809,;SLC35C2,downstream_gene_variant,,ENST00000487729,;SLC35C2,downstream_gene_variant,,ENST00000480329,;	1698	55	71	SUCCESS
SMARCB1	6598	.	GRCh37	22	24177140	24177140	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	7	73	0				ENST00000263121	NM_003073.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46672.1	.	MUTECT|MUSE	.	TCCTGTGTGGG	NONE	.	.	.	.	.	ENSP00000384744	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406855	Transcript	.	.	ENSG00000099958	14236	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DERL3_HUMAN	DERL3	HGNC	.	.	UPI00001C2050	SNV	DERL3,3_prime_UTR_variant,,ENST00000404056,;DERL3,intron_variant,,ENST00000406855,;SMARCB1,downstream_gene_variant,,ENST00000407082,;DERL3,downstream_gene_variant,,ENST00000318109,;SMARCB1,downstream_gene_variant,,ENST00000407422,;DERL3,downstream_gene_variant,,ENST00000476077,;SMARCB1,downstream_gene_variant,,ENST00000263121,;SMARCB1,downstream_gene_variant,,ENST00000344921,;DERL3,intron_variant,,ENST00000464023,;DERL3,downstream_gene_variant,,ENST00000464034,;DERL3,downstream_gene_variant,,ENST00000493596,;DERL3,downstream_gene_variant,,ENST00000488272,;DERL3,non_coding_transcript_exon_variant,,ENST00000290730,;DERL3,downstream_gene_variant,,ENST00000464110,;	.	73	47	SUCCESS
STK16	8576	.	GRCh37	2	220113425	220113425	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	11	0	ENST00000396738.2:c.*144T>A			ENST00000396738				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42822.1	.	MUTECT|MUSE	.	ATCTTTTCTTC	NONE	.	.	.	.	.	ENSP00000386928	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000409638	Transcript	.	.	ENSG00000115661	11394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STK16_HUMAN	STK16	HGNC	.	.	UPI0000035BA8	SNV	STK16,3_prime_UTR_variant,,ENST00000409516,;STK16,3_prime_UTR_variant,,ENST00000409638,;STK16,3_prime_UTR_variant,,ENST00000396738,;STK16,3_prime_UTR_variant,,ENST00000409260,;TUBA4A,downstream_gene_variant,,ENST00000248437,;STK16,downstream_gene_variant,,ENST00000409743,;GLB1L,upstream_gene_variant,,ENST00000424620,;TUBA4A,downstream_gene_variant,,ENST00000425551,;TUBA4A,downstream_gene_variant,,ENST00000456818,;TUBA4A,downstream_gene_variant,,ENST00000398989,;GLB1L,upstream_gene_variant,,ENST00000428427,;GLB1L,upstream_gene_variant,,ENST00000392089,;TUBA4A,downstream_gene_variant,,ENST00000392088,;TUBA4A,downstream_gene_variant,,ENST00000427737,;GLB1L,upstream_gene_variant,,ENST00000295759,;GLB1L,upstream_gene_variant,,ENST00000432839,;GLB1L,upstream_gene_variant,,ENST00000356283,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000485041,;STK16,downstream_gene_variant,,ENST00000486813,;TUBA4A,downstream_gene_variant,,ENST00000498660,;TUBA4B,upstream_gene_variant,,ENST00000473885,;STK16,non_coding_transcript_exon_variant,,ENST00000478018,;STK16,non_coding_transcript_exon_variant,,ENST00000496443,;TUBA4A,downstream_gene_variant,,ENST00000462806,;STK16,downstream_gene_variant,,ENST00000475696,;TUBA4A,downstream_gene_variant,,ENST00000475683,;STK16,downstream_gene_variant,,ENST00000461417,;STK16,downstream_gene_variant,,ENST00000491697,;STK16,downstream_gene_variant,,ENST00000475342,;STK16,downstream_gene_variant,,ENST00000496800,;	1234	11	16	SUCCESS
AHSA2	0	.	GRCh37	2	61415195	61415195	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	111	54	131	1	ENST00000394457.3:c.*1274T>C			ENST00000394457				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1868.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGTTGGGG	NONE	.	.	.	.	.	ENSP00000377970	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000394457	Transcript	.	.	ENSG00000173209	20437	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AHSA2_HUMAN	AHSA2	HGNC	.	.	UPI000006DEC9	SNV	AHSA2,3_prime_UTR_variant,,ENST00000394457,;USP34,3_prime_UTR_variant,,ENST00000411912,;USP34,3_prime_UTR_variant,,ENST00000436269,;USP34,3_prime_UTR_variant,,ENST00000398571,;AHSA2,downstream_gene_variant,,ENST00000410073,;AHSA2,downstream_gene_variant,,ENST00000357022,;AHSA2,downstream_gene_variant,,ENST00000491217,;USP34,downstream_gene_variant,,ENST00000492604,;AHSA2,downstream_gene_variant,,ENST00000489653,;AHSA2,downstream_gene_variant,,ENST00000493628,;USP34,downstream_gene_variant,,ENST00000498268,;USP34,downstream_gene_variant,,ENST00000490552,;USP34,downstream_gene_variant,,ENST00000463046,;AHSA2,downstream_gene_variant,,ENST00000484217,;AHSA2,downstream_gene_variant,,ENST00000487904,;AHSA2,downstream_gene_variant,,ENST00000471542,;	3431	132	165	SUCCESS
CDV3	55573	.	GRCh37	3	133306986	133306986	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1559793589	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	39	87	0	ENST00000264993.3:c.*96C>T			ENST00000264993	NM_001134422.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACACCGATG	NONE	.	.	.	.	.	ENSP00000264993	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264993	Transcript	.	.	ENSG00000091527	26928	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDV3_HUMAN	CDV3	HGNC	D6R9V8_HUMAN,D6R973_HUMAN	.	UPI0000072568	SNV	CDV3,3_prime_UTR_variant,,ENST00000420115,;CDV3,3_prime_UTR_variant,,ENST00000264993,;CDV3,intron_variant,,ENST00000515421,;CDV3,downstream_gene_variant,,ENST00000511392,;CDV3,downstream_gene_variant,,ENST00000431519,;CDV3,downstream_gene_variant,,ENST00000507408,;CDV3,downstream_gene_variant,,ENST00000508481,;CDV3,downstream_gene_variant,,ENST00000503932,;CDV3,downstream_gene_variant,,ENST00000504867,;	1188	87	105	SUCCESS
TRIO	7204	.	GRCh37	5	14508729	14508729	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs766973800	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	12	0	ENST00000344204.4:c.*198A>C			ENST00000344204	NM_007118.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3883.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACACTCTG	NONE	.	.	.	.	.	ENSP00000339299	.	57/57	.	.	.	.	.	.	.	.	rs766973800	57/57	PASS	ENST00000344204	Transcript	1	.	ENSG00000038382	12303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIO_HUMAN	TRIO	HGNC	.	.	UPI000034ECE6	SNV	TRIO,3_prime_UTR_variant,,ENST00000537187,;TRIO,3_prime_UTR_variant,,ENST00000344204,;TRIO,3_prime_UTR_variant,,ENST00000344135,;TRIO,intron_variant,,ENST00000513206,;TRIO,3_prime_UTR_variant,,ENST00000512070,;TRIO,downstream_gene_variant,,ENST00000508283,;TRIO,downstream_gene_variant,,ENST00000508717,;	9516	12	16	SUCCESS
WDR46	9277	.	GRCh37	6	33246523	33246523	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	4	83	0				ENST00000374617	NM_005452.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34425.1	.	MUTECT|MUSE	.	GAAAAAGAAAA	NONE	.	.	.	.	.	ENSP00000390784	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000451237	Transcript	.	.	ENSG00000235863	919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B3GT4_HUMAN	B3GALT4	HGNC	Q5STJ7_HUMAN	.	UPI0000126710	SNV	B3GALT4,3_prime_UTR_variant,,ENST00000451237,;RPS18,downstream_gene_variant,,ENST00000474973,;WDR46,downstream_gene_variant,,ENST00000444176,;WDR46,downstream_gene_variant,,ENST00000374617,;RPS18,downstream_gene_variant,,ENST00000439602,;B3GALT4,non_coding_transcript_exon_variant,,ENST00000606990,;RPS18,downstream_gene_variant,,ENST00000476222,;WDR46,downstream_gene_variant,,ENST00000461951,;RPS18,downstream_gene_variant,,ENST00000472218,;RPS18,downstream_gene_variant,,ENST00000496813,;RPS18,downstream_gene_variant,,ENST00000490191,;WDR46,downstream_gene_variant,,ENST00000473611,;RPS18,downstream_gene_variant,,ENST00000479802,;RPS18,downstream_gene_variant,,ENST00000474626,;WDR46,downstream_gene_variant,,ENST00000489905,;	1607	83	77	SUCCESS
B3GAT2	135152	.	GRCh37	6	71569016	71569016	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	34	92	0	ENST00000230053.6:c.*2350A>G			ENST00000230053	NM_080742.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4974.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATACTGGCTC	NONE	.	.	.	.	.	ENSP00000230053	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000230053	Transcript	.	.	ENSG00000112309	922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GA2_HUMAN	B3GAT2	HGNC	A8K1V3_HUMAN	.	UPI000012670C	SNV	B3GAT2,3_prime_UTR_variant,,ENST00000230053,;SMAP1,intron_variant,,ENST00000370455,;SMAP1,intron_variant,,ENST00000316999,;SMAP1,intron_variant,,ENST00000370452,;	3931	92	88	SUCCESS
SLC17A5	26503	.	GRCh37	6	74304685	74304685	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	27	0	ENST00000355773.5:c.*115A>G			ENST00000355773	NM_012434.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4981.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCTAATAC	NONE	.	.	.	.	.	ENSP00000348019	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000355773	Transcript	.	.	ENSG00000119899	10933	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S17A5_HUMAN	SLC17A5	HGNC	H0UI05_HUMAN	.	UPI000003B2DE	SNV	SLC17A5,3_prime_UTR_variant,,ENST00000355773,;	1872	27	33	SUCCESS
BBS9	27241	.	GRCh37	7	33645012	33645012	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	21	0	ENST00000242067.6:c.*174T>A			ENST00000242067	NM_198428.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43566.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTTGTAAC	NONE	.	.	.	.	.	ENSP00000242067	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000242067	Transcript	.	.	ENSG00000122507	30000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PTHB1_HUMAN	BBS9	HGNC	C9JRR5_HUMAN,C9JJ08_HUMAN	.	UPI000020ED57	SNV	BBS9,3_prime_UTR_variant,,ENST00000242067,;BBS9,3_prime_UTR_variant,,ENST00000434373,;BBS9,3_prime_UTR_variant,,ENST00000350941,;BBS9,3_prime_UTR_variant,,ENST00000396127,;BBS9,3_prime_UTR_variant,,ENST00000355070,;BBS9,3_prime_UTR_variant,,ENST00000354265,;BBS9,downstream_gene_variant,,ENST00000489708,;BBS9,3_prime_UTR_variant,,ENST00000433714,;BBS9,downstream_gene_variant,,ENST00000498189,;	3359	21	20	SUCCESS
CA1	759	.	GRCh37	8	86240784	86240784	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	34	86	0	ENST00000431316.1:c.*5T>A			ENST00000431316				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6237.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGAATCAT	NONE	.	.	.	.	.	ENSP00000430656	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000523953	Transcript	.	.	ENSG00000133742	1368	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAH1_HUMAN	CA1	HGNC	E5RIF9_HUMAN,E5RHS7_HUMAN,E5RHP7_HUMAN,E5RH81_HUMAN,E5RGU8_HUMAN,E5RG43_HUMAN,E5RFL2_HUMAN	.	UPI000013CEEF	SNV	CA1,3_prime_UTR_variant,,ENST00000523953,;CA1,3_prime_UTR_variant,,ENST00000432364,;CA1,3_prime_UTR_variant,,ENST00000256119,;CA1,3_prime_UTR_variant,,ENST00000523022,;CA1,3_prime_UTR_variant,,ENST00000431316,;CA1,3_prime_UTR_variant,,ENST00000542576,;CA1,3_prime_UTR_variant,,ENST00000522389,;CA1,3_prime_UTR_variant,,ENST00000521679,;CA1,downstream_gene_variant,,ENST00000522579,;CA1,downstream_gene_variant,,ENST00000520663,;CA1,downstream_gene_variant,,ENST00000517618,;CA1,downstream_gene_variant,,ENST00000524324,;CA1,downstream_gene_variant,,ENST00000522814,;CA1,downstream_gene_variant,,ENST00000517590,;CA1,downstream_gene_variant,,ENST00000519991,;CA1,downstream_gene_variant,,ENST00000521846,;CA1,downstream_gene_variant,,ENST00000518341,;CA1,downstream_gene_variant,,ENST00000517429,;CA1,downstream_gene_variant,,ENST00000518233,;CA1,downstream_gene_variant,,ENST00000523712,;	1838	86	101	SUCCESS
RBM18	92400	.	GRCh37	9	125004142	125004152	+	3_prime_UTR_variant	3'UTR	DEL	TGCTACAGTAA	TGCTACAGTAA	-	novel	.	TCGA-G3-A3CK-01	TCGA-G3-A3CK-10	TGCTACAGTAA	TGCTACAGTAA	.	.	.	.	.	.	.	.	.	.	.	.	.	192	63	286	0	ENST00000417201.3:c.*11_*21del			ENST00000417201	NM_033117.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6839.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTGCTGCTACAGTAATTCAC	NONE	.	.	.	.	.	ENSP00000409315	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000417201	Transcript	.	.	ENSG00000119446	28413	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBM18_HUMAN	RBM18	HGNC	.	.	UPI0000046802	deletion	RBM18,3_prime_UTR_variant,,ENST00000417201,;RBM18,non_coding_transcript_exon_variant,,ENST00000483428,;RBM18,non_coding_transcript_exon_variant,,ENST00000491850,;	725-735	286	255	SUCCESS
KLHDC7A	127707	.	GRCh37	1	18809980	18809980	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	79	0	ENST00000400664.1:c.*171A>G			ENST00000400664	NM_152375.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS185.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGAGTCTT	NONE	.	.	.	.	.	ENSP00000383505	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000400664	Transcript	.	.	ENSG00000179023	26791	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLD7A_HUMAN	KLHDC7A	HGNC	A4FU39_HUMAN	.	UPI0000E0501F	SNV	KLHDC7A,3_prime_UTR_variant,,ENST00000400664,;	2557	79	37	SUCCESS
TXLNA	200081	.	GRCh37	1	32660831	32660831	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs367823275	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	56	108	0	ENST00000373609.1:c.*35G>A			ENST00000373609				0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS353.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCGGCAGC	NONE	byFrequency|byCluster	.	.	.	A:0.0001	ENSP00000362711	.	10/10	.	.	.	.	.	.	.	.	rs367823275	10/10	PASS	ENST00000373609	Transcript	.	.	ENSG00000084652	30685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TXLNA_HUMAN	TXLNA	HGNC	.	.	UPI000000D7D9	SNV	TXLNA,3_prime_UTR_variant,,ENST00000373609,;TXLNA,3_prime_UTR_variant,,ENST00000373610,;	1957	108	103	SUCCESS
SOX4	6659	.	GRCh37	6	21598344	21598344	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	36	39	0	ENST00000244745.1:c.*2154C>A			ENST00000244745	NM_003107.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4547.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATGCCGATT	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;RP3-322L4.2,upstream_gene_variant,,ENST00000404566,;	4373	39	49	SUCCESS
PHF2	5253	.	GRCh37	9	96440065	96440065	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SI-01	TCGA-G3-A5SI-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	30	0	ENST00000359246.4:c.*107C>T			ENST00000359246	NM_005392.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35069.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTGCCTCTT	NONE	.	.	.	.	.	ENSP00000352185	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000359246	Transcript	.	.	ENSG00000197724	8920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PHF2_HUMAN	PHF2	HGNC	.	.	UPI0000211A97	SNV	PHF2,3_prime_UTR_variant,,ENST00000375376,;PHF2,3_prime_UTR_variant,,ENST00000359246,;	3765	30	15	SUCCESS
OR4Q1P	81104	.	GRCh37	15	22332622	22332622	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	51	0				ENST00000557009				0	.	.	.	.	.	A	.	sense_overlapping	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTGACCTATGC	NONE	.	.	.	.	.	.	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000558896	Transcript	.	.	ENSG00000259176	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-69H14.6	Clone_based_vega_gene	.	.	.	SNV	RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000560134,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000557855,;RP11-69H14.6,intron_variant,,ENST00000560193,;RP11-69H14.6,intron_variant,,ENST00000557817,;OR4Q1P,upstream_gene_variant,,ENST00000557009,;	429	51	19	SUCCESS
RN7SL214P	106479300	.	GRCh37	15	78212383	78212383	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	54	0				ENST00000487317				0	.	.	.	.	.	T	.	lincRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|VARSCANS	.	ACCGGGCCCTC	NONE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000565869	Transcript	.	.	ENSG00000261244	.	.	.	MODIFIER	1/1	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP11-114H24.7	Clone_based_vega_gene	.	.	.	SNV	RP11-114H24.7,intron_variant,,ENST00000565869,;RN7SL214P,upstream_gene_variant,,ENST00000487317,;RP11-114H24.2,non_coding_transcript_exon_variant,,ENST00000567226,;RP11-114H24.2,upstream_gene_variant,,ENST00000563349,;RP11-114H24.2,upstream_gene_variant,,ENST00000568307,;RP11-114H24.2,non_coding_transcript_exon_variant,,ENST00000562938,;	.	54	15	SUCCESS
BCAS3	54828	.	GRCh37	17	59469506	59469506	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	10	164	0	ENST00000390652.5:c.*20G>C			ENST00000390652	NM_001099432.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTGACTGG	NONE	.	.	.	.	.	ENSP00000375067	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000390652	Transcript	.	.	ENSG00000141376	14347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCAS3_HUMAN	BCAS3	HGNC	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN	.	UPI00001AE949	SNV	BCAS3,3_prime_UTR_variant,,ENST00000589222,;BCAS3,3_prime_UTR_variant,,ENST00000408905,;BCAS3,3_prime_UTR_variant,,ENST00000588874,;BCAS3,3_prime_UTR_variant,,ENST00000588462,;BCAS3,3_prime_UTR_variant,,ENST00000390652,;BCAS3,3_prime_UTR_variant,,ENST00000407086,;BCAS3,downstream_gene_variant,,ENST00000585744,;RP11-332H18.5,intron_variant,,ENST00000585765,;RP11-332H18.4,downstream_gene_variant,,ENST00000591313,;RP11-332H18.4,downstream_gene_variant,,ENST00000592377,;RP11-332H18.4,downstream_gene_variant,,ENST00000590421,;RP11-332H18.4,downstream_gene_variant,,ENST00000586706,;RP11-332H18.4,downstream_gene_variant,,ENST00000592009,;RP11-332H18.4,downstream_gene_variant,,ENST00000589814,;BCAS3,non_coding_transcript_exon_variant,,ENST00000592702,;BCAS3,non_coding_transcript_exon_variant,,ENST00000585812,;BCAS3,non_coding_transcript_exon_variant,,ENST00000587294,;BCAS3,non_coding_transcript_exon_variant,,ENST00000588569,;BCAS3,non_coding_transcript_exon_variant,,ENST00000588720,;	2838	164	74	SUCCESS
ZNF83	55769	.	GRCh37	19	53116230	53116230	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	42	0	ENST00000301096.3:c.*37A>T			ENST00000301096	NM_018300.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12854.1	.	MUTECT|SOMATICSNIPER|MUSE	.	ATGTCTTACAA	NONE	.	.	.	.	.	ENSP00000472619	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000597597	Transcript	.	.	ENSG00000167766	13158	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF83_HUMAN	ZNF83	HGNC	H9XFB5_HUMAN	.	UPI000013E6CF	SNV	ZNF83,3_prime_UTR_variant,,ENST00000536937,;ZNF83,3_prime_UTR_variant,,ENST00000594682,;ZNF83,3_prime_UTR_variant,,ENST00000301096,;ZNF83,3_prime_UTR_variant,,ENST00000544146,;ZNF83,3_prime_UTR_variant,,ENST00000545872,;ZNF83,3_prime_UTR_variant,,ENST00000597597,;ZNF83,3_prime_UTR_variant,,ENST00000541777,;ZNF83,intron_variant,,ENST00000601257,;ZNF83,intron_variant,,ENST00000600714,;ZNF83,downstream_gene_variant,,ENST00000598536,;ZNF83,downstream_gene_variant,,ENST00000596930,;ZNF83,downstream_gene_variant,,ENST00000391789,;ZNF83,downstream_gene_variant,,ENST00000597161,;ZNF83,downstream_gene_variant,,ENST00000595171,;ZNF83,downstream_gene_variant,,ENST00000601140,;ZNF83,downstream_gene_variant,,ENST00000595939,;	3842	42	13	SUCCESS
G0S2	50486	.	GRCh37	1	209849677	209849715	+	3_prime_UTR_variant	3'UTR	DEL	TTAATTATTACAATGACCACCATTTTGCATTTTGAAATA	TTAATTATTACAATGACCACCATTTTGCATTTTGAAATA	ATTATTACAATGACCACCATTTTGCATTTTGAAAT	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	TTAATTATTACAATGACCACCATTTTGCATTTTGAAATA	TTAATTATTACAATGACCACCATTTTGCATTTTGAAATA	.	.	.	.	.	.	.	.	.	.	.	.	.	34	11	147	0	ENST00000367029.4:c.*336_*374delinsATTATTACAATGACCACCATTTTGCATTTTGAAAT			ENST00000367029	NM_015714.3			0	.	.	.	.	.	ATTATTACAATGACCACCATTTTGCATTTTGAAAT	.	protein_coding	YES	CCDS1488.1	.	VARSCANI*|PINDEL	.	TTATTATTAATTATTACAATGACCACCATTTTGCATTTTGAAATAAAAAA	NONE	.	.	.	.	.	ENSP00000355996	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367029	Transcript	.	.	ENSG00000123689	30229	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	G0S2_HUMAN	G0S2	HGNC	.	.	UPI000012AE19	substitution	G0S2,3_prime_UTR_variant,,ENST00000367029,;RP1-28O10.1,intron_variant,,ENST00000441672,;RP1-28O10.1,upstream_gene_variant,,ENST00000445272,;	810-848	147	45	SUCCESS
LEFTY1	10637	.	GRCh37	1	226074277	226074277	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	16	0	ENST00000272134.5:c.*150C>G			ENST00000272134	NM_020997.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1548.1	.	MUTECT|MUSE	.	GGTGAGGTAAC	NONE	.	.	.	.	.	ENSP00000272134	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000272134	Transcript	.	.	ENSG00000243709	6552	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LFTY1_HUMAN	LEFTY1	HGNC	.	.	UPI000003721B	SNV	LEFTY1,3_prime_UTR_variant,,ENST00000272134,;TMEM63A,upstream_gene_variant,,ENST00000366835,;RP4-559A3.7,downstream_gene_variant,,ENST00000432920,;LEFTY1,downstream_gene_variant,,ENST00000492457,;	1331	16	8	SUCCESS
ZBTB18	10472	.	GRCh37	1	244219447	244219447	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	82	0	ENST00000358704.4:c.*775A>T			ENST00000358704	NM_205768.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1622.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTGAAAAGT	NONE	.	.	.	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,3_prime_UTR_variant,,ENST00000358704,;	2520	82	29	SUCCESS
CLSTN1	22883	.	GRCh37	1	9790548	9790550	+	3_prime_UTR_variant	3'UTR	DEL	GGT	GGT	-	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	GGT	GGT	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	21	0	ENST00000377298.4:c.*16_*18del			ENST00000377298	NM_001009566.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS30580.1	.	INDELOCATOR|VARSCANI	.	AACCGAGGTGGCCG	NONE	.	.	.	.	.	ENSP00000366513	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000377298	Transcript	.	.	ENSG00000171603	17447	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSTN1_HUMAN	CLSTN1	HGNC	.	.	UPI0000127B95	deletion	CLSTN1,3_prime_UTR_variant,,ENST00000435891,;CLSTN1,3_prime_UTR_variant,,ENST00000377298,;CLSTN1,3_prime_UTR_variant,,ENST00000361311,;CLSTN1,3_prime_UTR_variant,,ENST00000377288,;PIK3CD,downstream_gene_variant,,ENST00000361110,;PIK3CD,downstream_gene_variant,,ENST00000536656,;PIK3CD,downstream_gene_variant,,ENST00000377346,;CLSTN1,non_coding_transcript_exon_variant,,ENST00000477264,;	3755-3757	21	16	SUCCESS
EFR3A	23167	.	GRCh37	8	133023167	133023167	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	17	95	0	ENST00000254624.5:c.*25T>A			ENST00000254624	NM_015137.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34942.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATATGATTT	NONE	.	.	.	.	.	ENSP00000254624	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000254624	Transcript	.	.	ENSG00000132294	28970	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EFR3A_HUMAN	EFR3A	HGNC	E5RJS1_HUMAN,B4DZ89_HUMAN	.	UPI00001C1E8F	SNV	EFR3A,3_prime_UTR_variant,,ENST00000254624,;EFR3A,3_prime_UTR_variant,,ENST00000519656,;EFR3A,3_prime_UTR_variant,,ENST00000334503,;EFR3A,non_coding_transcript_exon_variant,,ENST00000521940,;EFR3A,non_coding_transcript_exon_variant,,ENST00000523074,;	2716	96	78	SUCCESS
KCNK9	51305	.	GRCh37	8	140630373	140630373	+	intron_variant	Intron	SNP	G	G	A	rs879876416	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	13	0	ENST00000303015.1:c.*128C>T			ENST00000303015	NM_016601.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6377.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	GAAAGGAGGAA	NONE	.	.	.	.	.	ENSP00000430676	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000520439	Transcript	1	.	ENSG00000169427	6283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNK9_HUMAN	KCNK9	HGNC	.	.	UPI000000D8AC	SNV	KCNK9,3_prime_UTR_variant,,ENST00000520439,;KCNK9,intron_variant,,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,intron_variant,,ENST00000522317,;	1317	13	13	SUCCESS
IPPK	64768	.	GRCh37	9	95375505	95375505	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs562036179	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	8	85	0	ENST00000287996.3:c.*2609C>T			ENST00000287996	NM_022755.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6699.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATTTGCTATT	NONE	.	.	.	.	.	ENSP00000287996	.	13/13	.	.	.	.	.	.	.	.	rs562036179	13/13	PASS	ENST00000287996	Transcript	.	.	ENSG00000127080	14645	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPPK_HUMAN	IPPK	HGNC	.	.	UPI000006EBCA	SNV	IPPK,3_prime_UTR_variant,,ENST00000287996,;CENPP,3_prime_UTR_variant,,ENST00000375587,;CENPP,3_prime_UTR_variant,,ENST00000375576,;CENPP,3_prime_UTR_variant,,ENST00000375579,;IPPK,downstream_gene_variant,,ENST00000375522,;IPPK,downstream_gene_variant,,ENST00000486841,;	4362	85	18	SUCCESS
ZCCHC16	0	.	GRCh37	X	111700451	111700454	+	3_prime_UTR_variant	3'UTR	DEL	AATA	AATA	-	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	AATA	AATA	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	35	0	ENST00000340433.2:c.*1566_*1569del			ENST00000340433	NM_001004308.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS35369.1	.	INDELOCATOR|VARSCANI	.	AGCACCAATAAATAG	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	4	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	deletion	ZCCHC16,3_prime_UTR_variant,,ENST00000340433,;	2725-2728	35	15	SUCCESS
UBQLN2	29978	.	GRCh37	X	56592773	56592773	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	75	0	ENST00000338222.5:c.*592A>C			ENST00000338222	NM_013444.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14374.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCATTGAT	NONE	.	.	.	.	.	ENSP00000345195	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338222	Transcript	.	.	ENSG00000188021	12509	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBQL2_HUMAN	UBQLN2	HGNC	.	.	UPI000004A059	SNV	UBQLN2,3_prime_UTR_variant,,ENST00000338222,;	2748	75	26	SUCCESS
UBQLN2	29978	.	GRCh37	X	56592774	56592774	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A5SJ-01	TCGA-G3-A5SJ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	76	0	ENST00000338222.5:c.*593T>G			ENST00000338222	NM_013444.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14374.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACCATTGATC	NONE	.	.	.	.	.	ENSP00000345195	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000338222	Transcript	.	.	ENSG00000188021	12509	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBQL2_HUMAN	UBQLN2	HGNC	.	.	UPI000004A059	SNV	UBQLN2,3_prime_UTR_variant,,ENST00000338222,;	2749	76	25	SUCCESS
KCNA1	3736	.	GRCh37	12	5024097	5024098	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs1377798713	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	141	46	148	0	ENST00000382545.3:c.*2072dup			ENST00000382545	NM_000217.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8535.1	.	INDELOCATOR|VARSCANI	.	TCCTTATTTTT	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	insertion	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	4660-4661	148	187	SUCCESS
C14orf119	55017	.	GRCh37	14	23567966	23567966	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	4	14	0	ENST00000319074.4:c.*676G>A			ENST00000319074	NM_017924.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9588.1	.	MUTECT|MUSE	.	TCTAGGCTGAA	NONE	.	.	.	.	.	ENSP00000322238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000319074	Transcript	.	.	ENSG00000179933	20270	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CN119_HUMAN	C14orf119	HGNC	.	.	UPI000006E710	SNV	C14orf119,3_prime_UTR_variant,,ENST00000319074,;C14orf119,downstream_gene_variant,,ENST00000554203,;ACIN1,upstream_gene_variant,,ENST00000605057,;ACIN1,upstream_gene_variant,,ENST00000262710,;ACIN1,upstream_gene_variant,,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000457657,;	1955	14	14	SUCCESS
TM2D3	80213	.	GRCh37	15	102182599	102182599	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	16	0	ENST00000333202.3:c.*83T>A			ENST00000333202	NM_078474.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10393.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATAGAAATATA	NONE	.	.	.	.	.	ENSP00000330433	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000333202	Transcript	.	.	ENSG00000184277	24128	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM2D3_HUMAN	TM2D3	HGNC	B3KT51_HUMAN	.	UPI00001B02BE	SNV	TM2D3,3_prime_UTR_variant,,ENST00000347970,;TM2D3,3_prime_UTR_variant,,ENST00000561373,;TM2D3,3_prime_UTR_variant,,ENST00000333202,;TM2D3,intron_variant,,ENST00000558129,;TM2D3,intron_variant,,ENST00000428002,;TM2D3,intron_variant,,ENST00000559107,;TM2D3,3_prime_UTR_variant,,ENST00000560013,;TM2D3,non_coding_transcript_exon_variant,,ENST00000559891,;TM2D3,downstream_gene_variant,,ENST00000558677,;TM2D3,downstream_gene_variant,,ENST00000560910,;TM2D3,downstream_gene_variant,,ENST00000559024,;	833	16	31	SUCCESS
SOCS1	8651	.	GRCh37	16	11348671	11348671	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	18	52	0	ENST00000332029.2:c.*29T>A			ENST00000332029	NM_003745.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10546.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTAATGCT	NONE	.	.	.	.	.	ENSP00000329418	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000332029	Transcript	.	.	ENSG00000185338	19383	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS1_HUMAN	SOCS1	HGNC	Q4JHT5_HUMAN	.	UPI0000033166	SNV	SOCS1,3_prime_UTR_variant,,ENST00000332029,;RMI2,intron_variant,,ENST00000572173,;RMI2,intron_variant,,ENST00000573910,;	816	52	58	SUCCESS
AKAP1	8165	.	GRCh37	17	55197887	55197887	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	8	0	ENST00000337714.3:c.*202T>C			ENST00000337714	NM_003488.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11594.1	.	MUTECT|MUSE	.	AAGGATAGTGT	NONE	.	.	.	.	.	ENSP00000337736	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000337714	Transcript	.	.	ENSG00000121057	367	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AKAP1_HUMAN	AKAP1	HGNC	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN	.	UPI0000125778	SNV	AKAP1,3_prime_UTR_variant,,ENST00000337714,;AKAP1,3_prime_UTR_variant,,ENST00000572557,;AKAP1,3_prime_UTR_variant,,ENST00000539273,;AKAP1,intron_variant,,ENST00000572560,;AKAP1,intron_variant,,ENST00000575032,;AKAP1,downstream_gene_variant,,ENST00000571629,;AKAP1,3_prime_UTR_variant,,ENST00000573326,;AKAP1,3_prime_UTR_variant,,ENST00000481416,;	3147	8	13	SUCCESS
MC4R	4160	.	GRCh37	18	58038581	58038581	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1598931794	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	23	78	0	ENST00000299766.3:c.*3G>A			ENST00000299766	NM_005912.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11976.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCCATTTA	NONE	.	.	.	.	.	ENSP00000299766	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000299766	Transcript	.	.	ENSG00000166603	6932	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MC4R_HUMAN	MC4R	HGNC	K4N7A9_HUMAN,A0N0W8_HUMAN	.	UPI000013E5E3	SNV	MC4R,3_prime_UTR_variant,,ENST00000299766,;	1421	78	82	SUCCESS
SLC24A3	57419	.	GRCh37	20	19701839	19701839	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1277905466	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	28	54	1	ENST00000328041.6:c.*55C>T			ENST00000328041	NM_020689.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13140.1	.	MUTECT|MUSE	.	AGACCCGGCCG	NONE	.	.	.	.	.	ENSP00000333519	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000328041	Transcript	.	.	ENSG00000185052	10977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCKX3_HUMAN	SLC24A3	HGNC	.	.	UPI00001A8BFD	SNV	SLC24A3,3_prime_UTR_variant,,ENST00000328041,;	2187	55	81	SUCCESS
WFDC12	128488	.	GRCh37	20	43752465	43752465	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	27	64	1	ENST00000372785.3:c.*22G>A			ENST00000372785	NM_080869.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13343.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCCCCAGAGG	NONE	.	.	.	.	.	ENSP00000361871	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000372785	Transcript	.	.	ENSG00000168703	16115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WFD12_HUMAN	WFDC12	HGNC	.	.	UPI0000049DFB	SNV	WFDC12,3_prime_UTR_variant,,ENST00000372785,;	376	66	91	SUCCESS
TIAM1	7074	.	GRCh37	21	32492672	32492672	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	107	50	98	1	ENST00000286827.3:c.*14C>T			ENST00000286827	NM_003253.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13609.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	TACGGGGCAGG	NONE	.	.	.	.	.	ENSP00000286827	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000286827	Transcript	.	.	ENSG00000156299	11805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TIAM1_HUMAN	TIAM1	HGNC	C9JMB5_HUMAN	.	UPI000013DE6F	SNV	TIAM1,3_prime_UTR_variant,,ENST00000286827,;TIAM1,intron_variant,,ENST00000423206,;TIAM1,downstream_gene_variant,,ENST00000541036,;TIAM1,downstream_gene_variant,,ENST00000491927,;	5262	99	157	SUCCESS
SCN1A	6323	.	GRCh37	2	166847702	166847702	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	16	0	ENST00000303395.4:c.*53T>C			ENST00000303395				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54413.1	.	MUTECT|MUSE	.	ACATCACCTTC	NONE	.	.	.	.	.	ENSP00000303540	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000303395	Transcript	.	.	ENSG00000144285	10585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCN1A_HUMAN	SCN1A	HGNC	F8T7W7_HUMAN	.	UPI000003C71D	SNV	SCN1A,3_prime_UTR_variant,,ENST00000423058,;SCN1A,3_prime_UTR_variant,,ENST00000303395,;SCN1A,3_prime_UTR_variant,,ENST00000375405,;SCN1A,downstream_gene_variant,,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;SCN1A,downstream_gene_variant,,ENST00000473295,;	6083	16	13	SUCCESS
UBE2E3	10477	.	GRCh37	2	181927724	181927724	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	9	76	0	ENST00000392415.2:c.*109C>A			ENST00000392415	NM_001278555.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2282.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTCTACTC	NONE	.	.	.	.	.	ENSP00000386788	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000410062	Transcript	.	.	ENSG00000170035	12479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UB2E3_HUMAN	UBE2E3	HGNC	R4GND1_HUMAN,R4GN77_HUMAN	.	UPI00000040F8	SNV	UBE2E3,3_prime_UTR_variant,,ENST00000602710,;UBE2E3,3_prime_UTR_variant,,ENST00000392415,;UBE2E3,3_prime_UTR_variant,,ENST00000410062,;UBE2E3,3_prime_UTR_variant,,ENST00000602959,;UBE2E3,downstream_gene_variant,,ENST00000602303,;UBE2E3,downstream_gene_variant,,ENST00000602479,;UBE2E3,downstream_gene_variant,,ENST00000602291,;UBE2E3,non_coding_transcript_exon_variant,,ENST00000602837,;UBE2E3,non_coding_transcript_exon_variant,,ENST00000602970,;UBE2E3,intron_variant,,ENST00000602762,;UBE2E3,downstream_gene_variant,,ENST00000602888,;	1126	76	90	SUCCESS
CCR3	1232	.	GRCh37	3	46307795	46307795	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	143	9	122	0	ENST00000357422.2:c.*78T>A			ENST00000357422				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54574.1	.	MUTECT|MUSE	.	ACCTCTAAAAC	NONE	.	.	.	.	.	ENSP00000441600	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000545097	Transcript	.	.	ENSG00000183625	1604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCR3_HUMAN	CCR3	HGNC	Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN	.	UPI000020A60F	SNV	CCR3,3_prime_UTR_variant,,ENST00000545097,;CCR3,3_prime_UTR_variant,,ENST00000395940,;CCR3,3_prime_UTR_variant,,ENST00000395942,;CCR3,3_prime_UTR_variant,,ENST00000357422,;CCR3,3_prime_UTR_variant,,ENST00000541018,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000484025,;CCR3,downstream_gene_variant,,ENST00000475150,;	1384	122	152	SUCCESS
SOD2	6648	.	GRCh37	6	160103382	160103382	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	13	0	ENST00000538183.2:c.*143C>T			ENST00000538183	NM_000636.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5265.1	.	MUTECT|MUSE	.	ATTCAGAACAT	NONE	.	.	.	.	.	ENSP00000446252	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538183	Transcript	.	.	ENSG00000112096	11180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SODM_HUMAN	SOD2	HGNC	Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN	.	UPI000006D275	SNV	SOD2,3_prime_UTR_variant,,ENST00000444946,;SOD2,3_prime_UTR_variant,,ENST00000538183,;SOD2,3_prime_UTR_variant,,ENST00000337404,;SOD2,intron_variant,,ENST00000367054,;SOD2,intron_variant,,ENST00000367055,;SOD2,intron_variant,,ENST00000546087,;SOD2,downstream_gene_variant,,ENST00000545162,;SOD2,downstream_gene_variant,,ENST00000535561,;SOD2,downstream_gene_variant,,ENST00000537657,;SOD2,downstream_gene_variant,,ENST00000401980,;SOD2,downstream_gene_variant,,ENST00000541573,;SOD2,downstream_gene_variant,,ENST00000540491,;SOD2,3_prime_UTR_variant,,ENST00000546260,;SOD2,downstream_gene_variant,,ENST00000535459,;	973	13	9	SUCCESS
SOX4	6659	.	GRCh37	6	21597233	21597233	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1241098871	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	29	0	ENST00000244745.1:c.*1043G>T			ENST00000244745	NM_003107.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGATTTT	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;	3262	29	17	SUCCESS
DLX6	1750	.	GRCh37	7	96639507	96639507	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	23	0	ENST00000518156.2:c.*148T>A			ENST00000518156				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47647.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTCCCTCTCTC	NONE	.	.	.	.	.	ENSP00000428480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000518156	Transcript	.	.	ENSG00000006377	2919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLX6_HUMAN	DLX6	HGNC	.	.	UPI0000EE57E0	SNV	DLX6,3_prime_UTR_variant,,ENST00000007660,;DLX6,3_prime_UTR_variant,,ENST00000518156,;DLX6,downstream_gene_variant,,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS2,upstream_gene_variant,,ENST00000606174,;DLX6,downstream_gene_variant,,ENST00000493273,;	1460	23	18	SUCCESS
ASB6	140459	.	GRCh37	9	132397844	132397844	+	downstream_gene_variant	3'Flank	SNP	G	G	C	rs1015945357	.	TCGA-G3-A5SK-01	TCGA-G3-A5SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	9	0				ENST00000277458	NM_017873.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35160.1	.	MUTECT|MUSE	.	GTCGAGGCACC	NONE	.	.	.	.	.	ENSP00000361564	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000372486	Transcript	.	.	ENSG00000148335	23373	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NTM1A_HUMAN	NTMT1	HGNC	S4R338_HUMAN	.	UPI000004A00F	SNV	NTMT1,3_prime_UTR_variant,,ENST00000372486,;NTMT1,3_prime_UTR_variant,,ENST00000482347,;NTMT1,3_prime_UTR_variant,,ENST00000372483,;NTMT1,downstream_gene_variant,,ENST00000372481,;ASB6,downstream_gene_variant,,ENST00000277458,;NTMT1,downstream_gene_variant,,ENST00000459968,;ASB6,downstream_gene_variant,,ENST00000450050,;ASB6,downstream_gene_variant,,ENST00000277459,;NTMT1,downstream_gene_variant,,ENST00000372480,;RP11-483H20.4,upstream_gene_variant,,ENST00000455074,;NTMT1,downstream_gene_variant,,ENST00000486391,;NTMT1,downstream_gene_variant,,ENST00000481189,;	1122	9	15	SUCCESS
MPZL3	196264	.	GRCh37	11	118100588	118100588	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	24	30	0	ENST00000278949.4:c.*21G>A			ENST00000278949				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8392.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCTTCTTGTG	NONE	.	.	.	.	.	ENSP00000278949	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000278949	Transcript	.	.	ENSG00000160588	27279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPZL3_HUMAN	MPZL3	HGNC	.	.	UPI000003617B	SNV	MPZL3,missense_variant,p.Arg62Lys,ENST00000525386,;MPZL3,3_prime_UTR_variant,,ENST00000527472,;MPZL3,3_prime_UTR_variant,,ENST00000278949,;AMICA1,upstream_gene_variant,,ENST00000526620,;AMICA1,upstream_gene_variant,,ENST00000356289,;MPZL3,3_prime_UTR_variant,,ENST00000446386,;AMICA1,upstream_gene_variant,,ENST00000534294,;AMICA1,upstream_gene_variant,,ENST00000527877,;AMICA1,upstream_gene_variant,,ENST00000529164,;	785	30	71	SUCCESS
CDRT4	284040	.	GRCh37	17	15341035	15341035	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs751192881	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	69	0	ENST00000312177.6:c.*55C>T			ENST00000312177	NM_001204477.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56021.1	.	MUTECT|MUSE	.	TTCTTGGGGAA	NONE	.	.	.	.	.	ENSP00000429865	.	7/7	.	.	.	.	.	.	.	.	rs751192881	7/7	PASS	ENST00000522212	Transcript	.	.	ENSG00000259024	42961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	TVP23C-CDRT4	HGNC	E5RGC5_HUMAN	.	UPI0000680AD3	SNV	TVP23C-CDRT4,3_prime_UTR_variant,,ENST00000522212,;CDRT4,3_prime_UTR_variant,,ENST00000312177,;CDRT4,downstream_gene_variant,,ENST00000524205,;TVP23C,downstream_gene_variant,,ENST00000519970,;CDRT4,downstream_gene_variant,,ENST00000520956,;CDRT4,downstream_gene_variant,,ENST00000519354,;TVP23C-CDRT4,downstream_gene_variant,,ENST00000557349,;TVP23C-CDRT4,downstream_gene_variant,,ENST00000518506,;TVP23C-CDRT4,downstream_gene_variant,,ENST00000481756,;	1133	69	48	SUCCESS
TXNDC17	84817	.	GRCh37	17	6546351	6546351	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	12	150	0	ENST00000250101.5:c.*12G>C			ENST00000250101	NM_032731.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11077.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGATGGCAAT	NONE	.	.	.	.	.	ENSP00000250101	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000250101	Transcript	.	.	ENSG00000129235	28218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TXD17_HUMAN	TXNDC17	HGNC	I3L0K2_HUMAN	.	UPI0000072BFD	SNV	TXNDC17,3_prime_UTR_variant,,ENST00000570330,;TXNDC17,3_prime_UTR_variant,,ENST00000574838,;TXNDC17,3_prime_UTR_variant,,ENST00000250101,;KIAA0753,upstream_gene_variant,,ENST00000571642,;KIAA0753,upstream_gene_variant,,ENST00000361413,;MED31,downstream_gene_variant,,ENST00000574128,;MED31,downstream_gene_variant,,ENST00000575197,;KIAA0753,upstream_gene_variant,,ENST00000572370,;MED31,downstream_gene_variant,,ENST00000225728,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000571029,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000577146,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000573792,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000576020,;TXNDC17,downstream_gene_variant,,ENST00000571957,;TXNDC17,3_prime_UTR_variant,,ENST00000574734,;TXNDC17,non_coding_transcript_exon_variant,,ENST00000574429,;KIAA0753,upstream_gene_variant,,ENST00000570455,;	709	150	69	SUCCESS
KPRP	448834	.	GRCh37	1	152734207	152734207	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	180	13	187	0	ENST00000606109.1:c.*403T>G			ENST00000606109				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30862.1	.	MUTECT|MUSE	.	CCTTCTTTGCT	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,3_prime_UTR_variant,,ENST00000368773,;KPRP,3_prime_UTR_variant,,ENST00000606109,;	2201	187	193	SUCCESS
STK25	10494	.	GRCh37	2	242434998	242434998	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	21	90	0	ENST00000316586.4:c.*79A>T			ENST00000316586	NM_001282308.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2549.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACCTTCCAA	NONE	.	.	.	.	.	ENSP00000325748	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000316586	Transcript	.	.	ENSG00000115694	11404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STK25_HUMAN	STK25	HGNC	E7EM58_HUMAN,C9JJV0_HUMAN,C9JDH9_HUMAN,C9JCC0_HUMAN,C9J232_HUMAN,B7Z9K1_HUMAN	.	UPI0000000C8C	SNV	STK25,3_prime_UTR_variant,,ENST00000405585,;STK25,3_prime_UTR_variant,,ENST00000403346,;STK25,3_prime_UTR_variant,,ENST00000401869,;STK25,3_prime_UTR_variant,,ENST00000535007,;STK25,3_prime_UTR_variant,,ENST00000543554,;STK25,3_prime_UTR_variant,,ENST00000316586,;STK25,3_prime_UTR_variant,,ENST00000405883,;STK25,downstream_gene_variant,,ENST00000442307,;STK25,downstream_gene_variant,,ENST00000424537,;STK25,downstream_gene_variant,,ENST00000423004,;FARP2,downstream_gene_variant,,ENST00000412332,;STK25,downstream_gene_variant,,ENST00000440109,;FARP2,downstream_gene_variant,,ENST00000444371,;STK25,downstream_gene_variant,,ENST00000429279,;STK25,downstream_gene_variant,,ENST00000435225,;STK25,downstream_gene_variant,,ENST00000450497,;FARP2,downstream_gene_variant,,ENST00000264042,;STK25,downstream_gene_variant,,ENST00000439101,;STK25,downstream_gene_variant,,ENST00000413760,;STK25,downstream_gene_variant,,ENST00000436402,;STK25,non_coding_transcript_exon_variant,,ENST00000470438,;STK25,non_coding_transcript_exon_variant,,ENST00000478403,;STK25,downstream_gene_variant,,ENST00000461760,;STK25,upstream_gene_variant,,ENST00000472181,;STK25,non_coding_transcript_exon_variant,,ENST00000487962,;STK25,non_coding_transcript_exon_variant,,ENST00000494699,;STK25,non_coding_transcript_exon_variant,,ENST00000465009,;STK25,downstream_gene_variant,,ENST00000479442,;STK25,downstream_gene_variant,,ENST00000496159,;FARP2,downstream_gene_variant,,ENST00000486736,;STK25,downstream_gene_variant,,ENST00000492127,;STK25,downstream_gene_variant,,ENST00000495143,;STK25,downstream_gene_variant,,ENST00000462953,;FARP2,downstream_gene_variant,,ENST00000470617,;	1710	90	52	SUCCESS
C4B-AS1	106480730	.	GRCh37	6	32009013	32009013	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	36	80	0				ENST00000415626				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4735.1	.	RADIA|MUSE	.	TCGCTGGCAGA	NONE	.	.	.	.	.	ENSP00000408860	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000418967	Transcript	.	.	ENSG00000231852	2600	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CYP21A2	HGNC	Q9UP07_HUMAN,Q7KYP0_HUMAN,Q16874_HUMAN,C6K7H0_HUMAN,B6VE01_HUMAN	.	UPI0000073F52	SNV	CYP21A2,3_prime_UTR_variant,,ENST00000418967,;CYP21A2,3_prime_UTR_variant,,ENST00000435122,;TNXB,3_prime_UTR_variant,,ENST00000375247,;TNXB,3_prime_UTR_variant,,ENST00000451343,;TNXB,3_prime_UTR_variant,,ENST00000375244,;CYP21A2,downstream_gene_variant,,ENST00000478281,;CYP21A2,downstream_gene_variant,,ENST00000471671,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000462278,;CYP21A2,downstream_gene_variant,,ENST00000483041,;TNXB,downstream_gene_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000488465,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000464325,;	1748	81	82	SUCCESS
RNA5SP206	106478999	.	GRCh37	6	32041646	32041646	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	26	104	0				ENST00000516703				0	.	.	.	.	.	T	.	rRNA	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTGGGGGTCA	NONE	.	4639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000516703	Transcript	.	.	ENSG00000252512	43106	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNA5SP206	HGNC	.	.	.	SNV	TNXB,missense_variant,p.Pro1487Thr,ENST00000375247,;TNXB,missense_variant,p.Pro1487Thr,ENST00000375244,;RNA5SP206,downstream_gene_variant,,ENST00000516703,;	.	104	117	SUCCESS
HIP1	3092	.	GRCh37	7	75167256	75167256	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	29	0	ENST00000336926.6:c.*237G>A			ENST00000336926	NM_005338.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34669.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGCCAGCC	NONE	.	.	.	.	.	ENSP00000336747	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000336926	Transcript	.	.	ENSG00000127946	4913	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HIP1_HUMAN	HIP1	HGNC	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN	.	UPI000013D65F	SNV	HIP1,3_prime_UTR_variant,,ENST00000434438,;HIP1,3_prime_UTR_variant,,ENST00000336926,;	3378	29	26	SUCCESS
TRAPPC9	83696	.	GRCh37	8	141468638	141468638	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-G3-A5SL-01	TCGA-G3-A5SL-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	9	20	0				ENST00000438773	NM_001160372.1	9		0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS34946.1	26	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCGCGGTCT	NONE	.	.	.	.	.	ENSP00000373979	.	1/23	.	.	.	.	.	.	.	.	.	1/23	PASS	ENST00000389328	Transcript	1	.	ENSG00000167632	30832	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	TPPC9_HUMAN	TRAPPC9	HGNC	.	.	UPI0000DBEF2B	SNV	TRAPPC9,missense_variant,p.Arg9His,ENST00000389328,;TRAPPC9,upstream_gene_variant,,ENST00000389327,;TRAPPC9,upstream_gene_variant,,ENST00000438773,;	41	20	53	SUCCESS
RAG1	5896	.	GRCh37	11	36600884	36600884	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	131	22	108	0	ENST00000299440.5:c.*2898T>C			ENST00000299440	NM_000448.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7902.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGTATGAC	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	6142	108	153	SUCCESS
RN7SL495P	106479404	.	GRCh37	15	23261007	23261007	+	upstream_gene_variant	5'Flank	SNP	A	A	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	272	174	297	1				ENST00000461817		228		0	.	.	.	.	.	C	K/Q	protein_coding	YES	.	682	RADIA|SOMATICSNIPER|VARSCANS	.	AGTTGAAGGAG	NONE	.	.	Pfam_domain:PF15070,hmmpanther:PTHR10881,Coiled-coils_(Ncoils):Coil	.	.	ENSP00000399637	.	10/19	.	.	.	.	.	.	.	.	.	10/19	PASS	ENST00000450802	Transcript	.	.	ENSG00000153666	26660	.	.	MODERATE	.	PRIMARY	.	.	.	.	3	.	.	.	possibly_damaging(0.544)	.	tolerated(0.13)	.	GOG8I_HUMAN	GOLGA8I	HGNC	.	.	UPI0000E59B79	SNV	GOLGA8I,missense_variant,p.Lys228Gln,ENST00000450802,;AC091565.1,upstream_gene_variant,,ENST00000459619,;RN7SL495P,upstream_gene_variant,,ENST00000461817,;GOLGA8I,non_coding_transcript_exon_variant,,ENST00000339078,;	780	298	446	SUCCESS
NPAP1	23742	.	GRCh37	15	24925438	24925438	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	29	73	0	ENST00000329468.2:c.*953C>G			ENST00000329468	NM_018958.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCCCAGCCT	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	4898	73	56	SUCCESS
NOG	9241	.	GRCh37	17	54672860	54672860	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1390152594	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	66	0	ENST00000332822.4:c.*577G>T			ENST00000332822	NM_005450.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11589.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CAAATGGAATG	NONE	.	.	.	.	.	ENSP00000328181	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332822	Transcript	.	.	ENSG00000183691	7866	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NOGG_HUMAN	NOG	HGNC	.	.	UPI0000130342	SNV	NOG,3_prime_UTR_variant,,ENST00000332822,;	1801	66	62	SUCCESS
KCNJ2	3759	.	GRCh37	17	68172588	68172588	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	125	32	193	0	ENST00000243457.3:c.*124G>T			ENST00000243457	NM_000891.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGAGGCAAG	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	1791	193	157	SUCCESS
NCAM2	4685	.	GRCh37	21	22910376	22910376	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	18	73	0	ENST00000400546.1:c.*98A>G			ENST00000400546	NM_004540.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42910.1	.	MUTECT|MUSE	.	GGGAAACTTCT	NONE	.	.	.	.	.	ENSP00000383392	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000400546	Transcript	.	.	ENSG00000154654	7657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NCAM2_HUMAN	NCAM2	HGNC	D3DSC5_HUMAN	.	UPI00001A3703	SNV	NCAM2,3_prime_UTR_variant,,ENST00000400546,;NCAM2,downstream_gene_variant,,ENST00000284894,;	2861	73	58	SUCCESS
TRAPPC10	7109	.	GRCh37	21	45523433	45523433	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1361748569	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	105	19	148	1	ENST00000291574.4:c.*21G>A			ENST00000291574	NM_003274.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13704.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACGCCACT	NONE	.	.	.	.	.	ENSP00000291574	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000291574	Transcript	.	.	ENSG00000160218	11868	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPC10_HUMAN	TRAPPC10	HGNC	Q76NH5_HUMAN	.	UPI0000129E26	SNV	TRAPPC10,3_prime_UTR_variant,,ENST00000291574,;PWP2,upstream_gene_variant,,ENST00000456705,;PWP2,upstream_gene_variant,,ENST00000291576,;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,non_coding_transcript_exon_variant,,ENST00000459741,;TRAPPC10,non_coding_transcript_exon_variant,,ENST00000468864,;	3976	149	124	SUCCESS
SLC15A2	6565	.	GRCh37	3	121659856	121659856	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	40	152	0	ENST00000489711.1:c.*2G>A			ENST00000489711	NM_021082.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGACTCC	NONE	.	.	.	.	.	ENSP00000417085	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000489711	Transcript	.	.	ENSG00000163406	10921	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S15A2_HUMAN	SLC15A2	HGNC	C9IZ38_HUMAN	.	UPI000013E27D	SNV	SLC15A2,3_prime_UTR_variant,,ENST00000295605,;SLC15A2,3_prime_UTR_variant,,ENST00000489711,;SLC15A2,downstream_gene_variant,,ENST00000469422,;	2580	152	105	SUCCESS
DACT2	168002	.	GRCh37	6	168708091	168708091	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	56	201	0	ENST00000366795.3:c.*21A>G			ENST00000366795	NM_214462.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47519.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCTCTTGA	NONE	.	.	.	.	.	ENSP00000355760	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000366795	Transcript	.	.	ENSG00000164488	21231	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DACT2_HUMAN	DACT2	HGNC	.	.	UPI00001D8145	SNV	DACT2,3_prime_UTR_variant,,ENST00000366795,;DACT2,3_prime_UTR_variant,,ENST00000610183,;DACT2,3_prime_UTR_variant,,ENST00000607983,;DACT2,intron_variant,,ENST00000366796,;	2435	201	170	SUCCESS
TSGA13	114960	.	GRCh37	7	130353597	130353597	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	13	0				ENST00000356588	NM_052933.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5824.1	.	MUTECT|MUSE	.	GGCCCCGCGCT	NONE	.	.	.	.	.	ENSP00000406047	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000456951	Transcript	.	.	ENSG00000213265	12369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSG13_HUMAN	TSGA13	HGNC	C9JVS7_HUMAN,C9JIG7_HUMAN	.	UPI0000073CFB	SNV	TSGA13,3_prime_UTR_variant,,ENST00000456951,;COPG2,5_prime_UTR_variant,,ENST00000445977,;COPG2,upstream_gene_variant,,ENST00000330992,;TSGA13,downstream_gene_variant,,ENST00000356588,;	1937	13	9	SUCCESS
KBTBD11	9920	.	GRCh37	8	1952892	1952892	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	46	147	1	ENST00000320248.3:c.*1662G>A			ENST00000320248	NM_014867.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34795.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTTGGTTAA	NONE	.	.	.	.	.	ENSP00000321544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320248	Transcript	.	.	ENSG00000176595	29104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTBB_HUMAN	KBTBD11	HGNC	.	.	UPI0000139C1D	SNV	KBTBD11,3_prime_UTR_variant,,ENST00000320248,;	4500	148	131	SUCCESS
SPRY3	10251	.	GRCh37	X	155007606	155007606	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A5SM-01	TCGA-G3-A5SM-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	24	170	0	ENST00000302805.2:c.*3206A>G			ENST00000302805	NM_005840.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14769.4	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAATAAATATA	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	4504	170	164	SUCCESS
FUT4	2526	.	GRCh37	11	94280302	94280302	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	29	74	0	ENST00000358752.2:c.*1410G>T			ENST00000358752	NM_002033.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGACACT	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	3286	74	73	SUCCESS
DYRK2	8445	.	GRCh37	12	68054227	68054227	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	211	158	292	0	ENST00000344096.3:c.*1734A>C			ENST00000344096	NM_006482.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATATTTGC	NONE	.	.	.	.	.	ENSP00000342105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000344096	Transcript	.	.	ENSG00000127334	3093	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYRK2_HUMAN	DYRK2	HGNC	G8JLB4_HUMAN,F5GXG1_HUMAN	.	UPI000006E92B	SNV	DYRK2,3_prime_UTR_variant,,ENST00000344096,;DYRK2,downstream_gene_variant,,ENST00000393555,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,intron_variant,,ENST00000425371,;	3953	292	370	SUCCESS
SLITRK5	26050	.	GRCh37	13	88330562	88330562	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	72	62	143	1	ENST00000325089.6:c.*42C>A			ENST00000325089	NM_015567.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9465.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAACAAGCA	NONE	.	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,3_prime_UTR_variant,,ENST00000400028,;	3138	144	135	SUCCESS
SNN	8303	.	GRCh37	16	11771390	11771390	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	69	0	ENST00000329565.5:c.*1208T>G			ENST00000329565	NM_003498.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10549.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGCTTGCGGC	NONE	.	.	.	.	.	ENSP00000329287	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329565	Transcript	.	.	ENSG00000184602	11149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNN_HUMAN	SNN	HGNC	.	.	UPI0000001656	SNV	SNN,3_prime_UTR_variant,,ENST00000329565,;TXNDC11,downstream_gene_variant,,ENST00000356957,;TXNDC11,downstream_gene_variant,,ENST00000283033,;TXNDC11,downstream_gene_variant,,ENST00000570917,;	1687	69	54	SUCCESS
ACSM5	54988	.	GRCh37	16	20452052	20452052	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1374106126	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	16	0	ENST00000331849.4:c.*303A>G			ENST00000331849	NM_017888.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10585.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCATAGGA	NONE	.	.	.	.	.	ENSP00000327916	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000331849	Transcript	.	.	ENSG00000183549	26060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ACSM5_HUMAN	ACSM5	HGNC	.	.	UPI00001FEFB3	SNV	ACSM5,3_prime_UTR_variant,,ENST00000331849,;CTD-2194A8.2,intron_variant,,ENST00000574654,;CTD-2194A8.2,downstream_gene_variant,,ENST00000575772,;ACSM5,downstream_gene_variant,,ENST00000577024,;	2190	16	21	SUCCESS
ARL4D	379	.	GRCh37	17	41478306	41478306	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	70	0	ENST00000320033.4:c.*600C>A			ENST00000320033	NM_001661.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11463.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTCTTACC	NONE	.	.	.	.	.	ENSP00000322628	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320033	Transcript	.	.	ENSG00000175906	656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL4D_HUMAN	ARL4D	HGNC	.	.	UPI0000140783	SNV	ARL4D,3_prime_UTR_variant,,ENST00000320033,;RNU6-1137P,upstream_gene_variant,,ENST00000517073,;	1413	70	66	SUCCESS
SIGLEC14	100049587	.	GRCh37	19	52146550	52146550	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	29	73	0	ENST00000360844.6:c.*58C>A			ENST00000360844	NM_001098612.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42604.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCTGCATGT	NONE	.	.	.	.	.	ENSP00000354090	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360844	Transcript	.	.	ENSG00000254415	32926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIG14_HUMAN	SIGLEC14	HGNC	.	.	UPI0000E44158	SNV	SIGLEC14,3_prime_UTR_variant,,ENST00000360844,;SIGLEC5,intron_variant,,ENST00000534261,;SIGLEC5,intron_variant,,ENST00000599649,;SIGLEC5,intron_variant,,ENST00000429354,;SIGLEC5,intron_variant,,ENST00000222107,;SIGLEC14,intron_variant,,ENST00000533866,;	1291	73	62	SUCCESS
SIGLEC14	100049587	.	GRCh37	19	52146551	52146551	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	29	74	0	ENST00000360844.6:c.*57G>A			ENST00000360844	NM_001098612.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42604.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCATGTG	NONE	.	.	.	.	.	ENSP00000354090	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000360844	Transcript	.	.	ENSG00000254415	32926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIG14_HUMAN	SIGLEC14	HGNC	.	.	UPI0000E44158	SNV	SIGLEC14,3_prime_UTR_variant,,ENST00000360844,;SIGLEC5,intron_variant,,ENST00000534261,;SIGLEC5,intron_variant,,ENST00000599649,;SIGLEC5,intron_variant,,ENST00000429354,;SIGLEC5,intron_variant,,ENST00000222107,;SIGLEC14,intron_variant,,ENST00000533866,;	1290	74	64	SUCCESS
CD164L2	388611	.	GRCh37	1	27705783	27705783	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	31	0	ENST00000374027.3:c.*754C>A			ENST00000374027	NM_207397.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS302.1	.	MUTECT|MUSE	.	GAGGTGGTTGA	NONE	.	.	.	.	.	ENSP00000363139	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000374027	Transcript	.	.	ENSG00000174950	32043	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	C16L2_HUMAN	CD164L2	HGNC	.	.	UPI000004BA78	SNV	CD164L2,3_prime_UTR_variant,,ENST00000374027,;CD164L2,3_prime_UTR_variant,,ENST00000374030,;FCN3,upstream_gene_variant,,ENST00000354982,;FCN3,upstream_gene_variant,,ENST00000270879,;CD164L2,downstream_gene_variant,,ENST00000374025,;FCN3,upstream_gene_variant,,ENST00000481748,;	1340	31	27	SUCCESS
PTGER3	5733	.	GRCh37	1	71418493	71418493	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs1028025173	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	19	0	ENST00000356595.4:c.*97C>G			ENST00000356595	NM_198718.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS655.1	.	MUTECT|MUSE	.	CACATGGAAAG	NONE	.	.	.	.	.	ENSP00000349003	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000356595	Transcript	.	.	ENSG00000050628	9595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PTGER3	HGNC	B1AK19_HUMAN	.	UPI0000224000	SNV	PTGER3,3_prime_UTR_variant,,ENST00000356595,;PTGER3,3_prime_UTR_variant,,ENST00000414819,;PTGER3,intron_variant,,ENST00000370932,;PTGER3,intron_variant,,ENST00000351052,;PTGER3,intron_variant,,ENST00000354608,;PTGER3,intron_variant,,ENST00000460330,;PTGER3,intron_variant,,ENST00000370931,;RP3-333A15.1,downstream_gene_variant,,ENST00000426775,;PTGER3,intron_variant,,ENST00000361210,;PTGER3,intron_variant,,ENST00000479353,;PTGER3,intron_variant,,ENST00000497146,;	1565	19	22	SUCCESS
NINL	22981	.	GRCh37	20	25434032	25434032	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	25	66	0	ENST00000278886.6:c.*55T>A			ENST00000278886	NM_025176.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33452.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCACAGTGGC	NONE	.	.	.	.	.	ENSP00000278886	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000278886	Transcript	.	.	ENSG00000101004	29163	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NINL_HUMAN	NINL	HGNC	.	.	UPI0000206B64	SNV	NINL,3_prime_UTR_variant,,ENST00000422516,;NINL,3_prime_UTR_variant,,ENST00000278886,;GINS1,downstream_gene_variant,,ENST00000262460,;NINL,non_coding_transcript_exon_variant,,ENST00000464285,;NINL,downstream_gene_variant,,ENST00000496509,;GINS1,downstream_gene_variant,,ENST00000481735,;	4278	66	105	SUCCESS
CD302	9936	.	GRCh37	2	160628146	160628146	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	14	0	ENST00000259053.4:c.*216A>C			ENST00000259053	NM_014880.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33308.1	.	RADIA|MUTECT|VARSCANS	.	GATGCTTAAAA	NONE	.	.	.	.	.	ENSP00000259053	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000259053	Transcript	.	.	ENSG00000241399	30843	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD302_HUMAN	CD302	HGNC	.	.	UPI000007443B	SNV	CD302,3_prime_UTR_variant,,ENST00000259053,;CD302,3_prime_UTR_variant,,ENST00000429078,;LY75,downstream_gene_variant,,ENST00000554112,;MARCH7,downstream_gene_variant,,ENST00000420397,;MARCH7,downstream_gene_variant,,ENST00000539065,;LY75-CD302,downstream_gene_variant,,ENST00000505052,;MARCH7,downstream_gene_variant,,ENST00000409175,;LY75-CD302,downstream_gene_variant,,ENST00000504764,;MARCH7,downstream_gene_variant,,ENST00000259050,;MARCH7,downstream_gene_variant,,ENST00000409591,;LY75,downstream_gene_variant,,ENST00000553424,;CD302,non_coding_transcript_exon_variant,,ENST00000480212,;MARCH7,downstream_gene_variant,,ENST00000478396,;	959	14	13	SUCCESS
CHAC2	494143	.	GRCh37	2	54001778	54001778	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	15	0	ENST00000295304.4:c.*116T>C			ENST00000295304	NM_001008708.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33196.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAACTGGAAA	NONE	.	.	.	.	.	ENSP00000295304	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295304	Transcript	.	.	ENSG00000143942	32363	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHAC2_HUMAN	CHAC2	HGNC	.	.	UPI000003616C	SNV	CHAC2,3_prime_UTR_variant,,ENST00000295304,;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000394717,;GPR75-ASB3,intron_variant,,ENST00000263634,;GPR75-ASB3,intron_variant,,ENST00000406687,;GPR75-ASB3,intron_variant,,ENST00000352846,;GPR75-ASB3,intron_variant,,ENST00000414369,;ASB3,intron_variant,,ENST00000459916,;ASB3,intron_variant,,ENST00000498475,;GPR75-ASB3,intron_variant,,ENST00000470916,;	766	15	21	SUCCESS
SPATA9	83890	.	GRCh37	5	94994185	94994185	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	12	13	0	ENST00000274432.8:c.*142T>C			ENST00000274432	NM_031952.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4076.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AGAAAATGACA	NONE	.	.	.	.	.	ENSP00000274432	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000274432	Transcript	.	.	ENSG00000145757	22988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SPAT9_HUMAN	SPATA9	HGNC	.	.	UPI000000DBD8	SNV	SPATA9,3_prime_UTR_variant,,ENST00000274432,;RFESD,downstream_gene_variant,,ENST00000513950,;RFESD,downstream_gene_variant,,ENST00000458310,;RFESD,downstream_gene_variant,,ENST00000311364,;RFESD,downstream_gene_variant,,ENST00000380005,;RFESD,downstream_gene_variant,,ENST00000511684,;SPATA9,non_coding_transcript_exon_variant,,ENST00000379990,;SPATA9,intron_variant,,ENST00000477047,;RFESD,intron_variant,,ENST00000508206,;SPATA9,intron_variant,,ENST00000316087,;SPATA9,intron_variant,,ENST00000477715,;SPATA9,downstream_gene_variant,,ENST00000489917,;	1049	13	15	SUCCESS
FZD1	8321	.	GRCh37	7	90896442	90896442	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	26	75	0	ENST00000287934.2:c.*303T>A			ENST00000287934	NM_003505.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5620.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTATTTAAAT	NONE	.	.	.	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,3_prime_UTR_variant,,ENST00000287934,;	2660	75	79	SUCCESS
COL4A5	1287	.	GRCh37	X	107939705	107939705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A6UC-01	TCGA-G3-A6UC-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	36	40	0	ENST00000361603.2:c.*97T>C			ENST00000361603	NM_000495.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35366.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ACTGCTGCCGT	NONE	.	.	.	.	.	ENSP00000331902	.	53/53	.	.	.	.	.	.	.	.	.	53/53	PASS	ENST00000328300	Transcript	.	.	ENSG00000188153	2207	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CO4A5_HUMAN	COL4A5	HGNC	H0Y9R8_HUMAN,B4DFF0_HUMAN	.	UPI000002A538	SNV	COL4A5,3_prime_UTR_variant,,ENST00000504541,;COL4A5,3_prime_UTR_variant,,ENST00000328300,;COL4A5,3_prime_UTR_variant,,ENST00000361603,;COL4A5,3_prime_UTR_variant,,ENST00000515658,;	5417	40	37	SUCCESS
CREBZF	58487	.	GRCh37	11	85373173	85373173	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	DEL	T	T	-	rs1403069284	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	27	0	ENST00000490820.2:c.*616del			ENST00000490820				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS41697.1	.	INDELOCATOR*|PINDEL	.	AGATGATTTTAC	NONE	.	.	.	.	.	ENSP00000433459	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000527447	Transcript	.	.	ENSG00000137504	24905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZHANG_HUMAN	CREBZF	HGNC	.	.	UPI0000405F55	deletion	CREBZF,3_prime_UTR_variant,,ENST00000398294,;CREBZF,3_prime_UTR_variant,,ENST00000527447,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,3_prime_UTR_variant,,ENST00000490820,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528889,;CREBZF,intron_variant,,ENST00000260058,;CREBZF,intron_variant,,ENST00000525639,;CREBZF,intron_variant,,ENST00000527529,;CREBZF,intron_variant,,ENST00000528561,;	2974	27	38	SUCCESS
KDM4D	55693	.	GRCh37	11	94732419	94732419	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	62	117	1	ENST00000335080.5:c.*311A>G			ENST00000335080	NM_018039.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTATATGCAA	NONE	.	.	.	.	.	ENSP00000334181	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000335080	Transcript	.	.	ENSG00000186280	25498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KDM4D_HUMAN	KDM4D	HGNC	.	.	UPI00001A82EC	SNV	KDM4D,3_prime_UTR_variant,,ENST00000536741,;KDM4D,3_prime_UTR_variant,,ENST00000335080,;	2715	118	158	SUCCESS
KCNA5	3741	.	GRCh37	12	5155224	5155224	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1241159771	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	34	92	0	ENST00000252321.3:c.*69A>G			ENST00000252321	NM_002234.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTACATTATA	NONE	.	.	.	.	.	ENSP00000252321	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000252321	Transcript	.	.	ENSG00000130037	6224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA5_HUMAN	KCNA5	HGNC	.	.	UPI000013CD56	SNV	KCNA5,3_prime_UTR_variant,,ENST00000252321,;	2140	92	94	SUCCESS
NAV3	89795	.	GRCh37	12	78604594	78604594	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	9	0	ENST00000397909.2:c.*297T>A			ENST00000397909	NM_001024383.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41815.1	.	MUTECT|MUSE	.	TGGGATAGCCA	NONE	.	176	.	.	.	ENSP00000446132	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000536525	Transcript	.	.	ENSG00000067798	15998	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAV3_HUMAN	NAV3	HGNC	F8VZV4_HUMAN	.	UPI00001FB1E8	SNV	NAV3,3_prime_UTR_variant,,ENST00000541270,;NAV3,3_prime_UTR_variant,,ENST00000551162,;NAV3,3_prime_UTR_variant,,ENST00000397909,;NAV3,3_prime_UTR_variant,,ENST00000266692,;NAV3,3_prime_UTR_variant,,ENST00000228327,;NAV3,3_prime_UTR_variant,,ENST00000552895,;NAV3,downstream_gene_variant,,ENST00000536525,;	.	9	11	SUCCESS
SAP18	10284	.	GRCh37	13	21721487	21721487	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs768581538	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	127	38	204	0	ENST00000607003.1:c.*6del			ENST00000607003				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS9295.2	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AATTCTATTTAC	NONE	.	.	.	.	.	ENSP00000371973	.	4/4	.	.	.	.	.	.	.	.	rs768581538	4/4	PASS	ENST00000382533	Transcript	.	.	ENSG00000150459	10530	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	SAP18	HGNC	U3KPY7_HUMAN	.	UPI000187B6C9	deletion	SAP18,3_prime_UTR_variant,,ENST00000607003,;SAP18,3_prime_UTR_variant,,ENST00000492245,;SAP18,3_prime_UTR_variant,,ENST00000467636,;SAP18,3_prime_UTR_variant,,ENST00000382533,;SAP18,downstream_gene_variant,,ENST00000450573,;RN7SL80P,upstream_gene_variant,,ENST00000580631,;SAP18,non_coding_transcript_exon_variant,,ENST00000471009,;	564	204	165	SUCCESS
NFATC4	4776	.	GRCh37	14	24837345	24837345	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	9	0				ENST00000250373	NM_004554.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45089.1	.	MUTECT|MUSE	.	GGGGGGGACCG	NONE	.	.	.	.	.	ENSP00000388910	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000413692	Transcript	.	.	ENSG00000100968	7778	.	.	MODIFIER	1/9	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NFAC4_HUMAN	NFATC4	HGNC	G3V4K1_HUMAN	.	UPI00017BD050	SNV	NFATC4,5_prime_UTR_variant,,ENST00000554050,;NFATC4,5_prime_UTR_variant,,ENST00000554903,;NFATC4,intron_variant,,ENST00000555590,;NFATC4,intron_variant,,ENST00000553469,;NFATC4,intron_variant,,ENST00000539237,;NFATC4,intron_variant,,ENST00000413692,;NFATC4,intron_variant,,ENST00000556279,;NFATC4,intron_variant,,ENST00000424781,;NFATC4,intron_variant,,ENST00000554591,;NFATC4,intron_variant,,ENST00000554966,;NFATC4,upstream_gene_variant,,ENST00000554779,;NFATC4,upstream_gene_variant,,ENST00000422617,;NFATC4,upstream_gene_variant,,ENST00000250373,;NFATC4,upstream_gene_variant,,ENST00000554473,;NFATC4,upstream_gene_variant,,ENST00000556169,;NFATC4,upstream_gene_variant,,ENST00000554661,;NFATC4,upstream_gene_variant,,ENST00000555167,;NFATC4,upstream_gene_variant,,ENST00000555453,;NFATC4,upstream_gene_variant,,ENST00000553708,;NFATC4,upstream_gene_variant,,ENST00000557451,;NFATC4,upstream_gene_variant,,ENST00000553879,;NFATC4,upstream_gene_variant,,ENST00000556759,;NFATC4,upstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000554344,;NFATC4,intron_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,intron_variant,,ENST00000556957,;NFATC4,upstream_gene_variant,,ENST00000557028,;NFATC4,upstream_gene_variant,,ENST00000556302,;	.	9	8	SUCCESS
MYZAP	100820829	.	GRCh37	15	57976739	57976739	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	rs781746788	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	30	0	ENST00000267853.5:c.*44del			ENST00000267853				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32247.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGCTCTGGAACC	NONE	.	.	.	.	.	ENSP00000369943	.	.	.	.	.	.	.	.	.	.	rs781746788	.	PASS	ENST00000380569	Transcript	.	.	ENSG00000137878	26424	1	.	MODIFIER	12/13	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	GCOM1	HGNC	.	.	UPI0000375B72	deletion	GCOM1,3_prime_UTR_variant,,ENST00000572390,;MYZAP,3_prime_UTR_variant,,ENST00000380565,;MYZAP,3_prime_UTR_variant,,ENST00000267853,;GCOM1,3_prime_UTR_variant,,ENST00000574161,;MYZAP,3_prime_UTR_variant,,ENST00000461709,;POLR2M,5_prime_UTR_variant,,ENST00000380563,;GCOM1,intron_variant,,ENST00000380568,;GCOM1,intron_variant,,ENST00000380561,;GCOM1,intron_variant,,ENST00000587652,;GCOM1,intron_variant,,ENST00000380569,;GCOM1,downstream_gene_variant,,ENST00000380560,;GCOM1,downstream_gene_variant,,ENST00000396180,;GCOM1,non_coding_transcript_exon_variant,,ENST00000484300,;GCOM1,3_prime_UTR_variant,,ENST00000468886,;GCOM1,3_prime_UTR_variant,,ENST00000460962,;GCOM1,3_prime_UTR_variant,,ENST00000488175,;GCOM1,3_prime_UTR_variant,,ENST00000471563,;GCOM1,3_prime_UTR_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000463717,;GCOM1,intron_variant,,ENST00000496101,;GCOM1,intron_variant,,ENST00000477282,;GCOM1,intron_variant,,ENST00000482814,;	.	30	28	SUCCESS
PDZD9	255762	.	GRCh37	16	21995541	21995541	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	34	44	0	ENST00000424898.2:c.*47T>A			ENST00000424898				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10602.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACAAAACT	NONE	.	.	.	.	.	ENSP00000441685	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000537222	Transcript	.	.	ENSG00000155714	28740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PDZD9	HGNC	F5GWW8_HUMAN	.	UPI0000E24140	SNV	PDZD9,3_prime_UTR_variant,,ENST00000286143,;PDZD9,3_prime_UTR_variant,,ENST00000537222,;PDZD9,3_prime_UTR_variant,,ENST00000424898,;UQCRC2,downstream_gene_variant,,ENST00000561553,;UQCRC2,downstream_gene_variant,,ENST00000268379,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000561798,;UQCRC2,downstream_gene_variant,,ENST00000563898,;	713	44	62	SUCCESS
CSH1	1442	.	GRCh37	17	61972364	61972364	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	21	52	0	ENST00000316193.8:c.*18T>A			ENST00000316193	NM_001317.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11649.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACAGGATG	NONE	.	.	.	.	.	ENSP00000316416	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000316193	Transcript	.	.	ENSG00000136488	2440	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSH_HUMAN	CSH1	HGNC	Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN	.	UPI0000000C48	SNV	CSH1,3_prime_UTR_variant,,ENST00000453363,;CSH1,3_prime_UTR_variant,,ENST00000329882,;CSH1,3_prime_UTR_variant,,ENST00000316193,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;	814	52	65	SUCCESS
POTEC	388468	.	GRCh37	18	14543302	14543302	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	22	0				ENST00000358970	NM_001137671.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45835.1	.	MUTECT|MUSE	.	AGTCCACCCCA	NONE	.	157	.	.	.	ENSP00000351856	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358970	Transcript	.	.	ENSG00000183206	33894	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEC_HUMAN	POTEC	HGNC	.	.	UPI0000197B83	SNV	POTEC,upstream_gene_variant,,ENST00000358970,;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,5_prime_UTR_variant,,ENST00000511306,;	.	22	22	SUCCESS
CD177	57126	.	GRCh37	19	43864551	43864551	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	A	rs770491972	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	27	77	0	ENST00000457794.2:c.*462G>A			ENST00000457794				0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTAGATGTA	NONE	byFrequency	.	.	.	.	ENSP00000388794	.	6/9	.	.	.	.	.	.	.	.	rs770491972	6/9	PASS	ENST00000457794	Transcript	.	.	ENSG00000204936	30072	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD177_HUMAN	CD177	HGNC	.	.	UPI000013C4F9	SNV	CD177,3_prime_UTR_variant,,ENST00000378009,;CD177,downstream_gene_variant,,ENST00000378012,;CTC-490G23.4,downstream_gene_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000457794,;CD177,missense_variant,p.Asp252Asn,ENST00000607517,;	900	77	80	SUCCESS
VAV1	7409	.	GRCh37	19	6857199	6857199	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	21	0				ENST00000602142	NM_005428.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12174.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGACAGCTC	NONE	.	81	.	.	.	ENSP00000472929	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000602142	Transcript	.	.	ENSG00000141968	12657	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAV_HUMAN	VAV1	HGNC	.	.	UPI0000138213	SNV	VAV1,3_prime_UTR_variant,,ENST00000539284,;VAV1,3_prime_UTR_variant,,ENST00000304076,;VAV1,3_prime_UTR_variant,,ENST00000596764,;VAV1,3_prime_UTR_variant,,ENST00000599806,;VAV1,downstream_gene_variant,,ENST00000602142,;	.	21	24	SUCCESS
DNAJC11	55735	.	GRCh37	1	6694243	6694243	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	14	19	0	ENST00000377577.5:c.*1492C>A			ENST00000377577	NM_018198.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS87.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAAGGTTTA	NONE	.	.	.	.	.	ENSP00000366800	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000377577	Transcript	.	.	ENSG00000007923	25570	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DJC11_HUMAN	DNAJC11	HGNC	F5H1N1_HUMAN,B3KTC6_HUMAN	.	UPI000020544B	SNV	DNAJC11,3_prime_UTR_variant,,ENST00000349363,;DNAJC11,3_prime_UTR_variant,,ENST00000377577,;THAP3,3_prime_UTR_variant,,ENST00000377627,;DNAJC11,3_prime_UTR_variant,,ENST00000451196,;DNAJC11,downstream_gene_variant,,ENST00000377573,;THAP3,downstream_gene_variant,,ENST00000307896,;THAP3,downstream_gene_variant,,ENST00000054650,;DNAJC11,downstream_gene_variant,,ENST00000294401,;THAP3,downstream_gene_variant,,ENST00000472925,;DNAJC11,downstream_gene_variant,,ENST00000542246,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000465508,;DNAJC11,downstream_gene_variant,,ENST00000472414,;THAP3,downstream_gene_variant,,ENST00000484669,;THAP3,downstream_gene_variant,,ENST00000480647,;THAP3,downstream_gene_variant,,ENST00000487819,;	3296	19	24	SUCCESS
CEBPB	1051	.	GRCh37	20	48808727	48808727	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	4	30	0	ENST00000303004.3:c.*119G>A			ENST00000303004	NM_005194.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13429.1	.	MUTECT|VARSCANS	.	ACTTGGCAGCG	NONE	.	.	.	.	.	ENSP00000305422	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303004	Transcript	.	.	ENSG00000172216	1834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CEBPB_HUMAN	CEBPB	HGNC	Q9BSC0_HUMAN	.	UPI000000D8BA	SNV	CEBPB,3_prime_UTR_variant,,ENST00000303004,;	1352	30	48	SUCCESS
GPCPD1	56261	.	GRCh37	20	5528106	5528106	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	20	0	ENST00000379019.4:c.*201T>C			ENST00000379019	NM_019593.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13090.1	.	MUTECT|MUSE	.	CTATAAAGAGA	NONE	.	.	.	.	.	ENSP00000368305	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000379019	Transcript	.	.	ENSG00000125772	26957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPCP1_HUMAN	GPCPD1	HGNC	D3DW07_HUMAN	.	UPI0000062241	SNV	GPCPD1,3_prime_UTR_variant,,ENST00000418646,;GPCPD1,3_prime_UTR_variant,,ENST00000379019,;GPCPD1,non_coding_transcript_exon_variant,,ENST00000462080,;GPCPD1,non_coding_transcript_exon_variant,,ENST00000481038,;RP5-1022P6.3,upstream_gene_variant,,ENST00000422311,;	2433	20	20	SUCCESS
NCAPH2	29781	.	GRCh37	22	50961823	50961823	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	13	0	ENST00000420993.2:c.*19G>A			ENST00000420993	NM_001185011.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54546.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCAGGGGTG	NONE	.	.	.	.	.	ENSP00000299821	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000299821	Transcript	.	.	ENSG00000025770	25071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNDH2_HUMAN	NCAPH2	HGNC	.	.	UPI0000207A65	SNV	NCAPH2,3_prime_UTR_variant,,ENST00000395701,;NCAPH2,3_prime_UTR_variant,,ENST00000420993,;NCAPH2,3_prime_UTR_variant,,ENST00000522304,;NCAPH2,3_prime_UTR_variant,,ENST00000299821,;NCAPH2,downstream_gene_variant,,ENST00000523045,;SCO2,downstream_gene_variant,,ENST00000395693,;TYMP,downstream_gene_variant,,ENST00000425169,;NCAPH2,downstream_gene_variant,,ENST00000395698,;TYMP,downstream_gene_variant,,ENST00000252029,;TYMP,downstream_gene_variant,,ENST00000395678,;TYMP,downstream_gene_variant,,ENST00000395681,;SCO2,downstream_gene_variant,,ENST00000252785,;SCO2,downstream_gene_variant,,ENST00000423348,;SCO2,downstream_gene_variant,,ENST00000543927,;TYMP,downstream_gene_variant,,ENST00000395680,;SCO2,downstream_gene_variant,,ENST00000535425,;SCO2,downstream_gene_variant,,ENST00000439934,;CTA-384D8.36,upstream_gene_variant,,ENST00000608319,;NCAPH2,downstream_gene_variant,,ENST00000520297,;TYMP,downstream_gene_variant,,ENST00000487577,;TYMP,downstream_gene_variant,,ENST00000487162,;TYMP,downstream_gene_variant,,ENST00000476284,;NCAPH2,downstream_gene_variant,,ENST00000522048,;	1918	13	16	SUCCESS
NRXN1	9378	.	GRCh37	2	50149019	50149019	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	39	0	ENST00000406316.2:c.*63A>T			ENST00000406316	NM_004801.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46282.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTTATATT	NONE	.	.	.	.	.	ENSP00000385142	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,3_prime_UTR_variant,,ENST00000405472,;NRXN1,3_prime_UTR_variant,,ENST00000401710,;NRXN1,3_prime_UTR_variant,,ENST00000404971,;NRXN1,3_prime_UTR_variant,,ENST00000406316,;NRXN1,3_prime_UTR_variant,,ENST00000378262,;NRXN1,3_prime_UTR_variant,,ENST00000401669,;NRXN1,3_prime_UTR_variant,,ENST00000412315,;NRXN1,3_prime_UTR_variant,,ENST00000342183,;NRXN1,downstream_gene_variant,,ENST00000406859,;NRXN1,downstream_gene_variant,,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000484192,;	6047	39	41	SUCCESS
NDUFAF3	25915	.	GRCh37	3	49060610	49060610	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	17	116	0	ENST00000326925.6:c.*5C>A			ENST00000326925	NM_199069.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2784.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACCGCCAGGA	NONE	.	.	.	.	.	ENSP00000323076	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000326925	Transcript	.	.	ENSG00000178057	29918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NDUF3_HUMAN	NDUFAF3	HGNC	A4FU71_HUMAN	.	UPI000003427D	SNV	NDUFAF3,3_prime_UTR_variant,,ENST00000395458,;NDUFAF3,3_prime_UTR_variant,,ENST00000451378,;NDUFAF3,3_prime_UTR_variant,,ENST00000326912,;NDUFAF3,3_prime_UTR_variant,,ENST00000326925,;IMPDH2,downstream_gene_variant,,ENST00000326739,;DALRD3,upstream_gene_variant,,ENST00000313778,;IMPDH2,downstream_gene_variant,,ENST00000429182,;DALRD3,upstream_gene_variant,,ENST00000441576,;IMPDH2,downstream_gene_variant,,ENST00000442157,;DALRD3,upstream_gene_variant,,ENST00000341949,;DALRD3,upstream_gene_variant,,ENST00000395462,;DALRD3,upstream_gene_variant,,ENST00000440857,;DALRD3,upstream_gene_variant,,ENST00000420952,;MIR191,upstream_gene_variant,,ENST00000384873,;MIR425,upstream_gene_variant,,ENST00000362162,;DALRD3,upstream_gene_variant,,ENST00000492585,;DALRD3,upstream_gene_variant,,ENST00000496568,;NDUFAF3,non_coding_transcript_exon_variant,,ENST00000496152,;IMPDH2,downstream_gene_variant,,ENST00000463903,;IMPDH2,downstream_gene_variant,,ENST00000484872,;IMPDH2,downstream_gene_variant,,ENST00000481274,;DALRD3,upstream_gene_variant,,ENST00000484831,;IMPDH2,downstream_gene_variant,,ENST00000491610,;IMPDH2,downstream_gene_variant,,ENST00000466147,;IMPDH2,downstream_gene_variant,,ENST00000485500,;IMPDH2,downstream_gene_variant,,ENST00000496837,;IMPDH2,downstream_gene_variant,,ENST00000472328,;NDUFAF3,downstream_gene_variant,,ENST00000480392,;DALRD3,upstream_gene_variant,,ENST00000460505,;IMPDH2,downstream_gene_variant,,ENST00000462980,;DALRD3,upstream_gene_variant,,ENST00000498794,;	1694	116	99	SUCCESS
JAKMIP1	152789	.	GRCh37	4	6055550	6055550	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	20	11	0	ENST00000282924.5:c.*152T>A			ENST00000282924	NM_144720.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47005.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGTACATGT	NONE	.	.	.	.	.	ENSP00000386711	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409021	Transcript	.	.	ENSG00000152969	26460	.	.	MODIFIER	13/20	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	JKIP1_HUMAN	JAKMIP1	HGNC	F2Z2K5_HUMAN	.	UPI00015734C1	SNV	JAKMIP1,3_prime_UTR_variant,,ENST00000409831,;JAKMIP1,3_prime_UTR_variant,,ENST00000282924,;JAKMIP1,3_prime_UTR_variant,,ENST00000410077,;JAKMIP1,intron_variant,,ENST00000409021,;JAKMIP1,intron_variant,,ENST00000409371,;JAKMIP1,3_prime_UTR_variant,,ENST00000473053,;	.	11	22	SUCCESS
PCDHB6	56130	.	GRCh37	5	140532779	140532779	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	54	109	0	ENST00000231136.1:c.*556G>C			ENST00000231136	NM_018939.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4248.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTGAGCCT	NONE	.	.	.	.	.	ENSP00000231136	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231136	Transcript	.	.	ENSG00000113211	8691	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB6_HUMAN	PCDHB6	HGNC	F5H446_HUMAN	.	UPI00001273E2	SNV	PCDHB6,3_prime_UTR_variant,,ENST00000231136,;PCDHB6,downstream_gene_variant,,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	2941	109	165	SUCCESS
PCDHB7	56129	.	GRCh37	5	140555910	140555910	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	248	35	184	0	ENST00000231137.3:c.*1112T>G			ENST00000231137	NM_018940.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4249.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATCATAGATG	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	3668	184	283	SUCCESS
ITGA2	3673	.	GRCh37	5	52386460	52386460	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs772318397	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	162	152	198	0	ENST00000296585.5:c.*31C>A			ENST00000296585	NM_002203.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3957.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCGGCAGCAT	NONE	.	.	.	.	.	ENSP00000296585	.	30/30	.	.	.	.	.	.	.	.	rs772318397	30/30	PASS	ENST00000296585	Transcript	1	.	ENSG00000164171	6137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ITA2_HUMAN	ITGA2	HGNC	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN	.	UPI0000169C36	SNV	ITGA2,3_prime_UTR_variant,,ENST00000296585,;CTD-2366F13.2,upstream_gene_variant,,ENST00000606157,;ITGA2,3_prime_UTR_variant,,ENST00000510722,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000509814,;	3720	198	314	SUCCESS
PFDN6	10471	.	GRCh37	6	33259802	33259802	+	downstream_gene_variant	3'Flank	SNP	T	T	G	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	10	36	0				ENST00000374606	NM_001185181.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4774.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGATATAATTG	NONE	.	.	.	.	.	ENSP00000420211	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000497454	Transcript	.	.	ENSG00000237441	9769	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGL2_HUMAN	RGL2	HGNC	Q9BSI0_HUMAN,Q54AJ0_HUMAN,A2AB89_HUMAN	.	UPI0000001621	SNV	RGL2,3_prime_UTR_variant,,ENST00000497454,;PFDN6,intron_variant,,ENST00000463584,;RGL2,downstream_gene_variant,,ENST00000425946,;WDR46,upstream_gene_variant,,ENST00000444176,;WDR46,upstream_gene_variant,,ENST00000374617,;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374607,;PFDN6,downstream_gene_variant,,ENST00000374610,;RGL2,downstream_gene_variant,,ENST00000444031,;PFDN6,downstream_gene_variant,,ENST00000374606,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;WDR46,upstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000471319,;RGL2,downstream_gene_variant,,ENST00000485077,;WDR46,upstream_gene_variant,,ENST00000468157,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;WDR46,upstream_gene_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000478610,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;RGL2,downstream_gene_variant,,ENST00000494550,;WDR46,upstream_gene_variant,,ENST00000488944,;PFDN6,downstream_gene_variant,,ENST00000491382,;RGL2,downstream_gene_variant,,ENST00000476616,;WDR46,upstream_gene_variant,,ENST00000489905,;	2907	36	57	SUCCESS
GNGT1	2792	.	GRCh37	7	93540290	93540290	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M5-01	TCGA-G3-A7M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	36	65	0	ENST00000248572.5:c.*60A>T			ENST00000248572	NM_021955.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5633.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATAACAATATG	NONE	.	.	.	.	.	ENSP00000248572	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000248572	Transcript	.	.	ENSG00000127928	4411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GBG1_HUMAN	GNGT1	HGNC	Q6LCP6_HUMAN	.	UPI0000001316	SNV	GNGT1,3_prime_UTR_variant,,ENST00000455502,;GNGT1,3_prime_UTR_variant,,ENST00000429473,;GNGT1,3_prime_UTR_variant,,ENST00000248572,;GNGT1,downstream_gene_variant,,ENST00000430875,;GNGT1,downstream_gene_variant,,ENST00000428834,;	433	65	87	SUCCESS
SLC17A6	57084	.	GRCh37	11	22399318	22399318	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	45	114	0	ENST00000263160.3:c.*32T>C			ENST00000263160	NM_020346.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7856.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTTTGTGA	NONE	.	.	.	.	.	ENSP00000263160	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000263160	Transcript	.	.	ENSG00000091664	16703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGLU2_HUMAN	SLC17A6	HGNC	.	.	UPI0000073F14	SNV	SLC17A6,3_prime_UTR_variant,,ENST00000263160,;	2218	114	122	SUCCESS
TMTC1	83857	.	GRCh37	12	29659707	29659707	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	3	34	1				ENST00000539277	NM_001193451.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53772.1	.	MUTECT|MUSE	.	GATGTGAAAGC	NONE	.	22	.	.	.	ENSP00000442046	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000539277	Transcript	.	.	ENSG00000133687	24099	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMTC1_HUMAN	TMTC1	HGNC	B3KVW1_HUMAN	.	UPI0001DD37FA	SNV	TMTC1,3_prime_UTR_variant,,ENST00000256062,;TMTC1,3_prime_UTR_variant,,ENST00000551659,;TMTC1,3_prime_UTR_variant,,ENST00000552618,;TMTC1,downstream_gene_variant,,ENST00000539277,;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000552925,;	.	35	18	SUCCESS
PROZ	8858	.	GRCh37	13	113826495	113826495	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	28	0	ENST00000375547.2:c.*76G>A			ENST00000375547	NM_003891.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58300.1	.	RADIA|VARSCANS	.	AGGGCGCTGAA	NONE	.	.	.	.	.	ENSP00000344458	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000342783	Transcript	.	.	ENSG00000126231	9460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PROZ_HUMAN	PROZ	HGNC	B0YJC6_HUMAN	.	UPI000002B1A6	SNV	PROZ,3_prime_UTR_variant,,ENST00000375547,;PROZ,3_prime_UTR_variant,,ENST00000342783,;PROZ,downstream_gene_variant,,ENST00000493630,;	1352	28	24	SUCCESS
TOP3A	7156	.	GRCh37	17	18178069	18178069	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	63	0	ENST00000321105.5:c.*47T>C			ENST00000321105	NM_004618.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11194.1	.	MUTECT|VARSCANS	.	AACACAAAGGG	NONE	.	.	.	.	.	ENSP00000321636	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000321105	Transcript	.	.	ENSG00000177302	11992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOP3A_HUMAN	TOP3A	HGNC	B4DSJ0_HUMAN,A8K398_HUMAN	.	UPI00001371A0	SNV	TOP3A,3_prime_UTR_variant,,ENST00000540524,;TOP3A,3_prime_UTR_variant,,ENST00000321105,;TOP3A,3_prime_UTR_variant,,ENST00000542570,;TOP3A,intron_variant,,ENST00000489131,;TOP3A,downstream_gene_variant,,ENST00000580095,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,non_coding_transcript_exon_variant,,ENST00000469739,;TOP3A,intron_variant,,ENST00000493648,;	3268	63	43	SUCCESS
TEX14	56155	.	GRCh37	17	56634214	56634214	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	21	0	ENST00000240361.8:c.*158C>G			ENST00000240361				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS56042.1	.	MUTECT|MUSE	.	AGAGAGGGCCA	NONE	.	.	.	.	.	ENSP00000240361	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000240361	Transcript	.	.	ENSG00000121101	11737	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TEX14_HUMAN	TEX14	HGNC	.	.	UPI0000DAC9CA	SNV	TEX14,3_prime_UTR_variant,,ENST00000349033,;TEX14,3_prime_UTR_variant,,ENST00000389934,;TEX14,3_prime_UTR_variant,,ENST00000240361,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580589,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000578022,;TEX14,non_coding_transcript_exon_variant,,ENST00000584699,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	4738	21	16	SUCCESS
SOCS6	9306	.	GRCh37	18	67995549	67995549	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	41	0	ENST00000397942.3:c.*2037A>T			ENST00000397942	NM_004232.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11998.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATAATAAAT	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,downstream_gene_variant,,ENST00000578377,;SOCS6,downstream_gene_variant,,ENST00000582322,;	3961	41	43	SUCCESS
EPHA2	1969	.	GRCh37	1	16451597	16451597	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	33	0	ENST00000358432.5:c.*113T>C			ENST00000358432	NM_004431.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS169.1	.	MUTECT|MUSE	.	GGGGGAGGAAA	NONE	.	.	.	.	.	ENSP00000351209	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000358432	Transcript	.	.	ENSG00000142627	3386	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EPHA2_HUMAN	EPHA2	HGNC	Q96HF4_HUMAN,Q8IZL0_HUMAN	.	UPI00000731AB	SNV	EPHA2,3_prime_UTR_variant,,ENST00000358432,;	3199	33	30	SUCCESS
SYNDIG1	79953	.	GRCh37	20	24646251	24646251	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1366874942	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	11	0	ENST00000376862.3:c.*111G>A			ENST00000376862	NM_024893.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13164.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCACGAAGCC	NONE	.	.	.	.	.	ENSP00000366058	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000376862	Transcript	.	.	ENSG00000101463	15885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SYNG1_HUMAN	SYNDIG1	HGNC	.	.	UPI00001285DC	SNV	SYNDIG1,3_prime_UTR_variant,,ENST00000376862,;	1521	11	16	SUCCESS
SLC5A3	6526	.	GRCh37	21	35478352	35478352	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	64	33	96	0	ENST00000381151.3:c.*8698C>G			ENST00000381151				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGACTCTGTAA	NONE	.	.	.	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,3_prime_UTR_variant,,ENST00000608209,;SLC5A3,3_prime_UTR_variant,,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	11367	96	97	SUCCESS
ADARB1	104	.	GRCh37	21	46645372	46645372	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	24	0	ENST00000360697.3:c.*3260A>G			ENST00000360697				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33589.1	.	MUTECT|MUSE	.	AATTTATTTTT	NONE	.	.	.	.	.	ENSP00000441897	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000539173	Transcript	.	.	ENSG00000197381	226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RED1_HUMAN	ADARB1	HGNC	C9JUP4_HUMAN	.	UPI0000133622	SNV	ADARB1,3_prime_UTR_variant,,ENST00000539173,;ADARB1,3_prime_UTR_variant,,ENST00000360697,;ADARB1,3_prime_UTR_variant,,ENST00000348831,;ADARB1,intron_variant,,ENST00000437626,;ADARB1,intron_variant,,ENST00000389863,;ADARB1,intron_variant,,ENST00000496664,;ADARB1,intron_variant,,ENST00000492414,;ADARB1,intron_variant,,ENST00000389861,;	5921	24	9	SUCCESS
COX7A2L	9167	.	GRCh37	2	42588393	42588393	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	55	0				ENST00000234301	NM_004718.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1808.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGCGCAAGG	NONE	.	.	.	.	.	ENSP00000367938	.	2/4	.	.	.	.	.	.	.	.	.	2/4	PASS	ENST00000378669	Transcript	.	.	ENSG00000115944	2289	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COX7R_HUMAN	COX7A2L	HGNC	Q6FGA0_HUMAN	.	UPI0000127C56	SNV	COX7A2L,5_prime_UTR_variant,,ENST00000378669,;COX7A2L,upstream_gene_variant,,ENST00000234301,;COX7A2L,upstream_gene_variant,,ENST00000468711,;COX7A2L,upstream_gene_variant,,ENST00000463055,;COX7A2L,intron_variant,,ENST00000607768,;COX7A2L,upstream_gene_variant,,ENST00000482463,;COX7A2L,downstream_gene_variant,,ENST00000423797,;COX7A2L,upstream_gene_variant,,ENST00000464443,;	739	55	44	SUCCESS
RUFY3	22902	.	GRCh37	4	71657184	71657184	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs1406922697	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	57	22	77	0	ENST00000226328.4:c.*170T>A			ENST00000226328	NM_014961.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34001.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGTTTTTTTC	NONE	.	.	.	.	.	ENSP00000370394	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381006	Transcript	.	.	ENSG00000018189	30285	.	.	MODIFIER	12/17	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RUFY3_HUMAN	RUFY3	HGNC	D6REM9_HUMAN,D6RCQ1_HUMAN	.	UPI00005FB126	SNV	RUFY3,3_prime_UTR_variant,,ENST00000226328,;RUFY3,intron_variant,,ENST00000502653,;RUFY3,intron_variant,,ENST00000381006,;RUFY3,downstream_gene_variant,,ENST00000417478,;RUFY3,downstream_gene_variant,,ENST00000536664,;RUFY3,upstream_gene_variant,,ENST00000507333,;RUFY3,intron_variant,,ENST00000512103,;RUFY3,intron_variant,,ENST00000504805,;RUFY3,upstream_gene_variant,,ENST00000503025,;	.	77	79	SUCCESS
C2	717	.	GRCh37	6	31915210	31915210	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	48	0				ENST00000299367	NM_000063.4	190		0	.	.	.	.	.	T	H	protein_coding	YES	.	2076	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCACTGCAG	NONE	.	.	PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF346,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	.	.	ENSP00000410815	.	16/30	.	.	.	.	.	.	.	.	.	16/30	PASS	ENST00000456570	Transcript	.	.	ENSG00000244255	1037	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CFB	Uniprot_gn	B4E1Z4_HUMAN	.	UPI00017A8869	SNV	CFB,synonymous_variant,p.%3D,ENST00000456570,;CFB,synonymous_variant,p.%3D,ENST00000477310,;CFB,synonymous_variant,p.%3D,ENST00000556679,;CFB,synonymous_variant,p.%3D,ENST00000425368,;NELFE,downstream_gene_variant,,ENST00000375425,;C2,downstream_gene_variant,,ENST00000299367,;CFB,upstream_gene_variant,,ENST00000483004,;C2,downstream_gene_variant,,ENST00000469372,;CFB,upstream_gene_variant,,ENST00000498317,;C2,downstream_gene_variant,,ENST00000442278,;NELFE,downstream_gene_variant,,ENST00000444811,;NELFE,downstream_gene_variant,,ENST00000375429,;C2,downstream_gene_variant,,ENST00000497706,;C2,downstream_gene_variant,,ENST00000452323,;C2,downstream_gene_variant,,ENST00000383177,;CFB,downstream_gene_variant,,ENST00000475617,;C2,downstream_gene_variant,,ENST00000468407,;CFB,upstream_gene_variant,,ENST00000497841,;CFB,3_prime_UTR_variant,,ENST00000460718,;CFB,non_coding_transcript_exon_variant,,ENST00000452035,;CFB,non_coding_transcript_exon_variant,,ENST00000461483,;CFB,downstream_gene_variant,,ENST00000472581,;NELFE,downstream_gene_variant,,ENST00000488426,;CFB,upstream_gene_variant,,ENST00000467360,;NELFE,downstream_gene_variant,,ENST00000481121,;C2,downstream_gene_variant,,ENST00000485690,;C2,downstream_gene_variant,,ENST00000486124,;CFB,upstream_gene_variant,,ENST00000465750,;CFB,upstream_gene_variant,,ENST00000482312,;CFB,upstream_gene_variant,,ENST00000482886,;C2,downstream_gene_variant,,ENST00000482060,;NELFE,downstream_gene_variant,,ENST00000492185,;CFB,upstream_gene_variant,,ENST00000467150,;	2131	48	31	SUCCESS
FAM150A	0	.	GRCh37	8	53450993	53450993	+	splice_region_variant,3_prime_UTR_variant	Splice_Region	SNP	G	G	C	novel	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	318	89	304	0	ENST00000358543.4:c.*10C>G			ENST00000358543	NM_207413.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6150.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACAGGGTAGT	NONE	.	.	.	.	.	ENSP00000351345	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000358543	Transcript	.	.	ENSG00000196711	33775	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F150A_HUMAN	FAM150A	HGNC	.	.	UPI00001D6942	SNV	FAM150A,splice_region_variant,,ENST00000358543,;FAM150A,intron_variant,,ENST00000523939,;	651	304	407	SUCCESS
CLDN2	9075	.	GRCh37	X	106173306	106173307	+	3_prime_UTR_variant	3'UTR	INS	-	-	C	rs777233825	.	TCGA-G3-A7M6-01	TCGA-G3-A7M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	44	20	104	0	ENST00000336803.1:c.*1162dup			ENST00000336803	NM_020384.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14524.1	.	INDELOCATOR|VARSCANI	.	ATCAGGCCCCC	NONE	byCluster	.	.	.	.	ENSP00000441283	.	2/2	.	.	.	.	.	.	.	.	rs777233825	2/2	PASS	ENST00000541806	Transcript	.	.	ENSG00000165376	2041	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLD2_HUMAN	CLDN2	HGNC	.	.	UPI0000001BF3	insertion	CLDN2,3_prime_UTR_variant,,ENST00000540876,;CLDN2,3_prime_UTR_variant,,ENST00000541806,;CLDN2,3_prime_UTR_variant,,ENST00000336803,;MORC4,intron_variant,,ENST00000604604,;	2367-2368	104	64	SUCCESS
GJD3	125111	.	GRCh37	17	38520523	38520523	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	11	39	1				ENST00000578689	NM_152219.3			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCCAATTTGGT	NONE	.	.	.	.	.	ENSP00000462786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000578774	Transcript	.	.	ENSG00000266208	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CTD-2267D19.3	Clone_based_vega_gene	J3KT39_HUMAN	.	UPI0000D47800	SNV	CTD-2267D19.3,3_prime_UTR_variant,,ENST00000578774,;GJD3,upstream_gene_variant,,ENST00000337376,;GJD3,upstream_gene_variant,,ENST00000578689,;CTD-2267D19.4,upstream_gene_variant,,ENST00000583752,;	1672	40	33	SUCCESS
KRTAP3-1	83896	.	GRCh37	17	39165017	39165017	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	24	0	ENST00000391588.1:c.*13G>T			ENST00000391588	NM_031958.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32645.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTGCAGACT	NONE	.	.	.	.	.	ENSP00000375430	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391588	Transcript	.	.	ENSG00000212901	16778	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA31_HUMAN	KRTAP3-1	HGNC	.	.	UPI0000073070	SNV	KRTAP3-1,3_prime_UTR_variant,,ENST00000391588,;KRTAP3-1,non_coding_transcript_exon_variant,,ENST00000581033,;KRTAP3-4P,upstream_gene_variant,,ENST00000430780,;	350	24	14	SUCCESS
NUP85	79902	.	GRCh37	17	73236489	73236489	+	downstream_gene_variant	3'Flank	SNP	G	G	C	rs149621783	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	13	0				ENST00000245544	NM_024844.3	399		0	A:0	.	.	.	.	C	L	protein_coding	YES	CCDS11717.1	1197	RADIA|MUSE|VARSCANS	.	TCGGCGAGGCC	NONE	byFrequency|byCluster	.	hmmpanther:PTHR13856:SF34,hmmpanther:PTHR13856	.	A:0.0001	ENSP00000245541	.	12/17	.	.	.	.	.	.	.	.	rs149621783	12/17	PASS	ENST00000245541	Transcript	.	.	ENSG00000125447	17079	.	.	LOW	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	GGA3_HUMAN	GGA3	HGNC	J3KSG3_HUMAN,B7Z456_HUMAN	.	UPI000012B3DF	SNV	GGA3,synonymous_variant,p.%3D,ENST00000578348,;GGA3,synonymous_variant,p.%3D,ENST00000582486,;GGA3,synonymous_variant,p.%3D,ENST00000582717,;GGA3,synonymous_variant,p.%3D,ENST00000245541,;GGA3,synonymous_variant,p.%3D,ENST00000351904,;GGA3,synonymous_variant,p.%3D,ENST00000538886,;NUP85,downstream_gene_variant,,ENST00000245544,;NUP85,downstream_gene_variant,,ENST00000579324,;GGA3,downstream_gene_variant,,ENST00000537686,;NUP85,downstream_gene_variant,,ENST00000579298,;NUP85,downstream_gene_variant,,ENST00000579900,;NUP85,downstream_gene_variant,,ENST00000540768,;NUP85,downstream_gene_variant,,ENST00000447371,;GGA3,downstream_gene_variant,,ENST00000580799,;GGA3,upstream_gene_variant,,ENST00000583282,;NUP85,downstream_gene_variant,,ENST00000579838,;GGA3,upstream_gene_variant,,ENST00000578208,;NUP85,downstream_gene_variant,,ENST00000541827,;GGA3,downstream_gene_variant,,ENST00000579743,;GGA3,3_prime_UTR_variant,,ENST00000584978,;GGA3,3_prime_UTR_variant,,ENST00000537584,;GGA3,non_coding_transcript_exon_variant,,ENST00000582200,;GGA3,non_coding_transcript_exon_variant,,ENST00000583667,;GGA3,non_coding_transcript_exon_variant,,ENST00000578275,;NUP85,downstream_gene_variant,,ENST00000584155,;GGA3,upstream_gene_variant,,ENST00000584550,;GGA3,downstream_gene_variant,,ENST00000582376,;GGA3,downstream_gene_variant,,ENST00000582821,;GGA3,upstream_gene_variant,,ENST00000578773,;GGA3,upstream_gene_variant,,ENST00000580646,;NUP85,downstream_gene_variant,,ENST00000578987,;GGA3,downstream_gene_variant,,ENST00000578896,;GGA3,downstream_gene_variant,,ENST00000582232,;GGA3,downstream_gene_variant,,ENST00000584243,;NUP85,downstream_gene_variant,,ENST00000581104,;GGA3,downstream_gene_variant,,ENST00000577435,;	1414	13	15	SUCCESS
CCDC42	146849	.	GRCh37	17	8633306	8633306	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	12	0	ENST00000293845.3:c.*142G>C			ENST00000293845	NM_144681.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11145.1	.	MUTECT|MUSE	.	TGAGGCCCACG	NONE	.	.	.	.	.	ENSP00000293845	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000293845	Transcript	.	.	ENSG00000161973	26528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD42_HUMAN	CCDC42	HGNC	.	.	UPI000013E127	SNV	CCDC42,3_prime_UTR_variant,,ENST00000539522,;CCDC42,3_prime_UTR_variant,,ENST00000293845,;	1320	12	10	SUCCESS
DCC	1630	.	GRCh37	18	51057047	51057047	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	3	51	0	ENST00000442544.2:c.*24T>C			ENST00000442544	NM_005215.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11952.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGTGAATT	NONE	.	.	.	.	.	ENSP00000389140	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000442544	Transcript	.	.	ENSG00000187323	2701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DCC_HUMAN	DCC	HGNC	J3QQJ6_HUMAN	.	UPI00001AEDC6	SNV	DCC,3_prime_UTR_variant,,ENST00000442544,;DCC,downstream_gene_variant,,ENST00000581580,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,downstream_gene_variant,,ENST00000577224,;DCC,downstream_gene_variant,,ENST00000579702,;	4984	51	23	SUCCESS
ZNF260	339324	.	GRCh37	19	37004875	37004875	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	15	60	1	ENST00000523638.1:c.*27G>T			ENST00000523638	NM_001166038.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33003.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGCTAAAT	NONE	.	.	.	.	.	ENSP00000429803	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000523638	Transcript	.	.	ENSG00000254004	13499	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN260_HUMAN	ZNF260	HGNC	.	.	UPI00001984F1	SNV	ZNF260,3_prime_UTR_variant,,ENST00000588993,;ZNF260,3_prime_UTR_variant,,ENST00000592282,;ZNF260,3_prime_UTR_variant,,ENST00000523638,;ZNF260,3_prime_UTR_variant,,ENST00000593142,;	2388	61	42	SUCCESS
PRMT6	55170	.	GRCh37	1	107601311	107601311	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	34	179	0	ENST00000370078.1:c.*846T>C			ENST00000370078				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41360.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTTTCTG	NONE	.	.	.	.	.	ENSP00000359095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370078	Transcript	.	.	ENSG00000198890	18241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANM6_HUMAN	PRMT6	HGNC	.	.	UPI000004B63D	SNV	PRMT6,3_prime_UTR_variant,,ENST00000370078,;PRMT6,3_prime_UTR_variant,,ENST00000361318,;	2011	179	123	SUCCESS
SOX11	6664	.	GRCh37	2	5838606	5838606	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	113	40	209	1	ENST00000322002.3:c.*4427C>A			ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGAACCAGCA	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	5808	210	153	SUCCESS
CNPY3	10695	.	GRCh37	6	42906570	42906570	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M7-01	TCGA-G3-A7M7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	34	0	ENST00000372836.4:c.*41A>G			ENST00000372836	NM_006586.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4875.1	.	RADIA|MUSE	.	TTTGAAGCTGA	NONE	.	.	.	.	.	ENSP00000361926	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000372836	Transcript	.	.	ENSG00000137161	11968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNPY3_HUMAN	CNPY3	HGNC	.	.	UPI000004C625	SNV	CNPY3,3_prime_UTR_variant,,ENST00000394142,;CNPY3,3_prime_UTR_variant,,ENST00000372836,;RP3-475N16.1,upstream_gene_variant,,ENST00000607218,;RP3-475N16.1,upstream_gene_variant,,ENST00000450671,;	1249	34	22	SUCCESS
GNPTAB	79158	.	GRCh37	12	102140857	102140857	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	3	21	0	ENST00000299314.7:c.*85T>A			ENST00000299314	NM_024312.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9088.1	.	MUTECT|MUSE	.	TAAGCATCACA	NONE	.	.	.	.	.	ENSP00000299314	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000299314	Transcript	.	.	ENSG00000111670	29670	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GNPTA_HUMAN	GNPTAB	HGNC	Q9NV34_HUMAN,Q68CM9_HUMAN,F8VQW2_HUMAN	.	UPI000004CC0C	SNV	GNPTAB,3_prime_UTR_variant,,ENST00000299314,;CHPT1,downstream_gene_variant,,ENST00000552213,;CHPT1,downstream_gene_variant,,ENST00000546873,;GNPTAB,downstream_gene_variant,,ENST00000549738,;	4119	21	22	SUCCESS
NEK7	140609	.	GRCh37	1	198288662	198288662	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M8-01	TCGA-G3-A7M8-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	3	42	0	ENST00000367385.4:c.*10A>T			ENST00000367385	NM_133494.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1394.1	.	RADIA|VARSCANS	.	GCAAGATCATG	NONE	.	.	.	.	.	ENSP00000356355	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367385	Transcript	.	.	ENSG00000151414	13386	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEK7_HUMAN	NEK7	HGNC	F8WAG2_HUMAN,F5H3U7_HUMAN,C9J1H8_HUMAN	.	UPI0000073180	SNV	NEK7,3_prime_UTR_variant,,ENST00000367385,;NEK7,downstream_gene_variant,,ENST00000538004,;NEK7,non_coding_transcript_exon_variant,,ENST00000493790,;	1261	42	30	SUCCESS
IQCH	64799	.	GRCh37	15	67793247	67793247	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	3	10	29	0	ENST00000335894.4:c.*163T>C			ENST00000335894	NM_001031715.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32273.1	.	MUTECT|MUSE	.	GTTTATTAAGT	NONE	.	.	.	.	.	ENSP00000336861	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000335894	Transcript	.	.	ENSG00000103599	25721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IQCH_HUMAN	IQCH	HGNC	H3BRL4_HUMAN	.	UPI000013CCE9	SNV	IQCH,3_prime_UTR_variant,,ENST00000546225,;IQCH,3_prime_UTR_variant,,ENST00000335894,;IQCH,3_prime_UTR_variant,,ENST00000358767,;IQCH,3_prime_UTR_variant,,ENST00000360277,;IQCH,intron_variant,,ENST00000558759,;IQCH-AS1,intron_variant,,ENST00000559285,;IQCH-AS1,intron_variant,,ENST00000559298,;IQCH-AS1,intron_variant,,ENST00000561232,;IQCH,3_prime_UTR_variant,,ENST00000514049,;	3313	29	13	SUCCESS
ATXN1L	342371	.	GRCh37	16	71888817	71888817	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	16	27	0	ENST00000427980.2:c.*3104G>C			ENST00000427980	NM_001137675.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45523.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATGGGGGGAA	NONE	.	.	.	.	.	ENSP00000415822	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000427980	Transcript	.	.	ENSG00000224470	33279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATX1L_HUMAN	ATXN1L	HGNC	G1UI23_HUMAN	.	UPI0000198982	SNV	ATXN1L,3_prime_UTR_variant,,ENST00000427980,;IST1,intron_variant,,ENST00000568581,;ZNF821,downstream_gene_variant,,ENST00000565601,;ZNF821,downstream_gene_variant,,ENST00000425432,;ZNF821,downstream_gene_variant,,ENST00000313565,;ZNF821,downstream_gene_variant,,ENST00000446827,;ZNF821,downstream_gene_variant,,ENST00000564134,;ATXN1L,intron_variant,,ENST00000569119,;ZNF821,downstream_gene_variant,,ENST00000568961,;ZNF821,downstream_gene_variant,,ENST00000566987,;	5467	27	22	SUCCESS
KRT34	3885	.	GRCh37	17	39534231	39534231	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	24	0	ENST00000394001.1:c.*80T>A			ENST00000394001	NM_021013.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11390.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCCAGAAAA	NONE	.	.	.	.	.	ENSP00000377570	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000394001	Transcript	.	.	ENSG00000131737	6452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRT34_HUMAN	KRT34	HGNC	.	.	UPI000013CD0C	SNV	KRT34,3_prime_UTR_variant,,ENST00000394001,;	1422	24	19	SUCCESS
UBL4B	164153	.	GRCh37	1	110655817	110655817	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	15	66	1	ENST00000334179.3:c.*136G>A			ENST00000334179	NM_203412.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS820.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGGTTTT	NONE	.	.	.	.	.	ENSP00000334044	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334179	Transcript	.	.	ENSG00000186150	32309	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	UBL4B_HUMAN	UBL4B	HGNC	.	.	UPI0000072926	SNV	UBL4B,3_prime_UTR_variant,,ENST00000334179,;RP4-773N10.6,downstream_gene_variant,,ENST00000554808,;	756	68	57	SUCCESS
ETV3L	440695	.	GRCh37	1	157062380	157062380	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	10	23	0	ENST00000454449.2:c.*61A>T			ENST00000454449	NM_001004341.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30893.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGTGGGCA	NONE	.	.	.	.	.	ENSP00000430271	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000454449	Transcript	.	.	ENSG00000253831	33834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ETV3L_HUMAN	ETV3L	HGNC	.	.	UPI000035E7AE	SNV	ETV3L,3_prime_UTR_variant,,ENST00000454449,;	1432	24	19	SUCCESS
INSM1	3642	.	GRCh37	20	20350998	20350998	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	90	43	146	0	ENST00000310227.1:c.*554C>T			ENST00000310227	NM_002196.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13143.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGAACAAATC	NONE	.	.	.	.	.	ENSP00000312631	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310227	Transcript	.	.	ENSG00000173404	6090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM1_HUMAN	INSM1	HGNC	.	.	UPI0000046C2F	SNV	INSM1,3_prime_UTR_variant,,ENST00000310227,;	2234	146	134	SUCCESS
INSM1	3642	.	GRCh37	20	20350999	20350999	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	43	147	0	ENST00000310227.1:c.*555A>T			ENST00000310227	NM_002196.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13143.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAACAAATCA	NONE	.	.	.	.	.	ENSP00000312631	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310227	Transcript	.	.	ENSG00000173404	6090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM1_HUMAN	INSM1	HGNC	.	.	UPI0000046C2F	SNV	INSM1,3_prime_UTR_variant,,ENST00000310227,;	2235	147	136	SUCCESS
ST6GAL2	84620	.	GRCh37	2	107423042	107423042	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	22	0	ENST00000361686.4:c.*92A>G			ENST00000361686	NM_032528.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2073.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTACACT	NONE	.	.	.	.	.	ENSP00000386942	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000409382	Transcript	.	.	ENSG00000144057	10861	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIAT2_HUMAN	ST6GAL2	HGNC	C9JIK2_HUMAN,C4N9P8_HUMAN	.	UPI000007477B	SNV	ST6GAL2,3_prime_UTR_variant,,ENST00000409382,;ST6GAL2,3_prime_UTR_variant,,ENST00000361686,;ST6GAL2,intron_variant,,ENST00000361803,;	2293	22	20	SUCCESS
CENPO	79172	.	GRCh37	2	25016290	25016290	+	upstream_gene_variant	5'Flank	SNP	C	C	G	rs751156715	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	7	53	0				ENST00000260662	NM_024322.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1714.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGTACGGCAG	NONE	.	.	.	.	.	ENSP00000370214	.	1/8	.	.	.	.	.	.	.	.	rs751156715	1/8	PASS	ENST00000380834	Transcript	.	.	ENSG00000138092	28152	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CENPO_HUMAN	CENPO	HGNC	.	.	UPI000006F5F6	SNV	CENPO,5_prime_UTR_variant,,ENST00000380834,;CENPO,5_prime_UTR_variant,,ENST00000473706,;CENPO,upstream_gene_variant,,ENST00000260662,;PTRHD1,upstream_gene_variant,,ENST00000328379,;CENPO,non_coding_transcript_exon_variant,,ENST00000473476,;PTRHD1,upstream_gene_variant,,ENST00000492046,;CENPO,upstream_gene_variant,,ENST00000498362,;PTRHD1,upstream_gene_variant,,ENST00000474668,;PTRHD1,upstream_gene_variant,,ENST00000480190,;PTRHD1,upstream_gene_variant,,ENST00000487316,;CENPO,non_coding_transcript_exon_variant,,ENST00000491031,;PTRHD1,upstream_gene_variant,,ENST00000467797,;CENPO,upstream_gene_variant,,ENST00000486527,;	277	53	54	SUCCESS
TNFSF10	8743	.	GRCh37	3	172224254	172224254	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	87	51	167	1	ENST00000241261.2:c.*28T>G			ENST00000241261	NM_003810.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3219.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGAGGTTA	NONE	.	.	.	.	.	ENSP00000241261	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000241261	Transcript	.	.	ENSG00000121858	11925	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TNF10_HUMAN	TNFSF10	HGNC	Q6IBA9_HUMAN	.	UPI0000001629	SNV	TNFSF10,3_prime_UTR_variant,,ENST00000241261,;TNFSF10,3_prime_UTR_variant,,ENST00000420541,;TNFSF10,downstream_gene_variant,,ENST00000472804,;TNFSF10,downstream_gene_variant,,ENST00000430881,;TNFSF10,downstream_gene_variant,,ENST00000494851,;	997	168	138	SUCCESS
PCDHB7	56129	.	GRCh37	5	140555938	140555938	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	115	23	280	0	ENST00000231137.3:c.*1140T>C			ENST00000231137	NM_018940.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4249.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATTCTCGGAA	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	3696	281	138	SUCCESS
EPHA1	2041	.	GRCh37	7	143088505	143088505	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	28	0	ENST00000275815.3:c.*45A>T			ENST00000275815	NM_005232.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5884.1	.	RADIA|MUSE|VARSCANS	.	CCCCGTCCTTG	NONE	.	.	.	.	.	ENSP00000275815	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000275815	Transcript	.	.	ENSG00000146904	3385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	EPHA1_HUMAN	EPHA1	HGNC	.	.	UPI000013DA82	SNV	EPHA1,3_prime_UTR_variant,,ENST00000275815,;ZYX,downstream_gene_variant,,ENST00000392910,;ZYX,downstream_gene_variant,,ENST00000322764,;ZYX,downstream_gene_variant,,ENST00000354434,;ZYX,downstream_gene_variant,,ENST00000449423,;ZYX,downstream_gene_variant,,ENST00000446634,;EPHA1,upstream_gene_variant,,ENST00000458129,;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;ZYX,downstream_gene_variant,,ENST00000436448,;EPHA1,downstream_gene_variant,,ENST00000494989,;EPHA1,downstream_gene_variant,,ENST00000465208,;ZYX,downstream_gene_variant,,ENST00000497119,;	3063	28	20	SUCCESS
OCM2	4951	.	GRCh37	7	97614187	97614187	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	53	0	ENST00000257627.4:c.*83C>A			ENST00000257627	NM_006188.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5653.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATGGGATGTG	NONE	.	.	.	.	.	ENSP00000257627	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000257627	Transcript	.	.	ENSG00000135175	34396	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OCM2_HUMAN	OCM2	HGNC	.	.	UPI000013CF74	SNV	OCM2,3_prime_UTR_variant,,ENST00000257627,;OCM2,downstream_gene_variant,,ENST00000473987,;	505	53	29	SUCCESS
KIAA1456	0	.	GRCh37	8	12880981	12880981	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	5	61	0	ENST00000524591.2:c.*1428A>G			ENST00000524591	NM_020844.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47808.1	.	MUTECT|MUSE|VARSCANS	.	TTTGTAGAGAA	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,non_coding_transcript_exon_variant,,ENST00000529978,;KIAA1456,downstream_gene_variant,,ENST00000529706,;	3282	61	52	SUCCESS
SGK3	23678	.	GRCh37	8	67771909	67771909	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-A7M9-01	TCGA-G3-A7M9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	28	0	ENST00000345714.4:c.*93A>T			ENST00000345714				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6195.1	.	MUTECT|MUSE	.	TAACTAGTGCC	NONE	.	.	.	.	.	ENSP00000379842	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000396596	Transcript	.	.	ENSG00000104205	10812	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SGK3_HUMAN	SGK3	HGNC	Q6FHV7_HUMAN,E5RK28_HUMAN,E5RJV7_HUMAN,E5RHR8_HUMAN	.	UPI000013591F	SNV	SGK3,3_prime_UTR_variant,,ENST00000522398,;SGK3,3_prime_UTR_variant,,ENST00000521198,;SGK3,3_prime_UTR_variant,,ENST00000345714,;SGK3,3_prime_UTR_variant,,ENST00000520976,;C8orf44-SGK3,3_prime_UTR_variant,,ENST00000519289,;SGK3,3_prime_UTR_variant,,ENST00000396596,;	1798	28	23	SUCCESS
MYEF2	50804	.	GRCh37	15	48433441	48433441	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	76	1	ENST00000324324.7:c.*1664C>T			ENST00000324324	NM_016132.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32230.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATGGTCATT	NONE	.	.	.	.	.	ENSP00000316950	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000324324	Transcript	.	.	ENSG00000104177	17940	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYEF2_HUMAN	MYEF2	HGNC	.	.	UPI0000366A40	SNV	MYEF2,3_prime_UTR_variant,,ENST00000324324,;SLC24A5,intron_variant,,ENST00000341459,;SLC24A5,intron_variant,,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000560172,;MYEF2,downstream_gene_variant,,ENST00000558395,;MYEF2,downstream_gene_variant,,ENST00000267836,;MYEF2,non_coding_transcript_exon_variant,,ENST00000558289,;MYEF2,downstream_gene_variant,,ENST00000560530,;SLC24A5,downstream_gene_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000559057,;	3747	77	94	SUCCESS
FFAR1	2864	.	GRCh37	19	35843358	35843358	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs763046473	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	22	28	0	ENST00000246553.2:c.*1C>T			ENST00000246553	NM_005303.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12458.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTAACGCCAC	NONE	byFrequency	.	.	.	.	ENSP00000246553	.	1/1	.	.	.	.	.	.	.	.	rs763046473	1/1	PASS	ENST00000246553	Transcript	.	.	ENSG00000126266	4498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FFAR1_HUMAN	FFAR1	HGNC	.	.	UPI000005045B	SNV	FFAR1,3_prime_UTR_variant,,ENST00000246553,;	914	28	41	SUCCESS
PLD5	200150	.	GRCh37	1	242253035	242253035	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	39	0	ENST00000442594.2:c.*121A>C			ENST00000442594	NM_152666.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1621.2	.	MUTECT|MUSE	.	GAGAATATTTT	NONE	.	.	.	.	.	ENSP00000440896	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000536534	Transcript	.	.	ENSG00000180287	26879	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLD5_HUMAN	PLD5	HGNC	J3KP61_HUMAN	.	UPI000040E1A4	SNV	PLD5,3_prime_UTR_variant,,ENST00000536534,;PLD5,3_prime_UTR_variant,,ENST00000427495,;PLD5,3_prime_UTR_variant,,ENST00000442594,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000314833,;	1974	39	34	SUCCESS
CLDN8	9073	.	GRCh37	21	31587422	31587422	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	5	27	0	ENST00000399899.1:c.*144T>C			ENST00000399899	NM_199328.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13587.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATCATAAATAG	NONE	.	.	.	.	.	ENSP00000382783	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000399899	Transcript	.	.	ENSG00000156284	2050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CLD8_HUMAN	CLDN8	HGNC	.	.	UPI00000389FD	SNV	CLDN8,3_prime_UTR_variant,,ENST00000399899,;CLDN8,intron_variant,,ENST00000286809,;LINC00307,upstream_gene_variant,,ENST00000451410,;	970	27	36	SUCCESS
C21orf128	0	.	GRCh37	21	43523720	43523720	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	13	20	0	ENST00000329015.2:c.*24G>A			ENST00000329015				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CTCCACAACTG	NONE	.	.	.	.	.	ENSP00000328495	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329015	Transcript	.	.	ENSG00000184385	23821	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CU128_HUMAN	C21orf128	HGNC	.	.	UPI000006FBA4	SNV	C21orf128,3_prime_UTR_variant,,ENST00000329015,;UMODL1,intron_variant,,ENST00000400424,;UMODL1,intron_variant,,ENST00000400427,;UMODL1,intron_variant,,ENST00000408910,;UMODL1,intron_variant,,ENST00000408989,;UMODL1,intron_variant,,ENST00000466434,;UMODL1,intron_variant,,ENST00000497243,;UMODL1,intron_variant,,ENST00000468982,;UMODL1,intron_variant,,ENST00000491559,;UMODL1,intron_variant,,ENST00000400421,;UMODL1,intron_variant,,ENST00000485357,;	665	20	41	SUCCESS
RBMS3	27303	.	GRCh37	3	30045452	30045452	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	33	0	ENST00000383767.2:c.*99C>A			ENST00000383767				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33724.1	.	MUTECT|MUSE|VARSCANS	.	GAATGCATTTT	NONE	.	.	.	.	.	ENSP00000373277	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000383767	Transcript	.	.	ENSG00000144642	13427	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RBMS3_HUMAN	RBMS3	HGNC	C9J9B2_HUMAN	.	UPI000023FE75	SNV	RBMS3,3_prime_UTR_variant,,ENST00000383767,;RBMS3,3_prime_UTR_variant,,ENST00000434693,;RBMS3,3_prime_UTR_variant,,ENST00000452462,;RBMS3,3_prime_UTR_variant,,ENST00000383766,;RBMS3,3_prime_UTR_variant,,ENST00000396583,;	1749	33	50	SUCCESS
PANK3	79646	.	GRCh37	5	167984473	167984473	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAUZ-01	TCGA-G3-AAUZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	34	1	ENST00000239231.6:c.*103A>G			ENST00000239231	NM_024594.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4368.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	GCTACTCTTTT	NONE	.	.	.	.	.	ENSP00000239231	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000239231	Transcript	.	.	ENSG00000120137	19365	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PANK3_HUMAN	PANK3	HGNC	E5RHA5_HUMAN	.	UPI0000131D4D	SNV	PANK3,3_prime_UTR_variant,,ENST00000239231,;MIR103A1,downstream_gene_variant,,ENST00000362165,;PANK3,downstream_gene_variant,,ENST00000520504,;SLC2A3P1,upstream_gene_variant,,ENST00000519666,;	1533	35	53	SUCCESS
TRIM44	54765	.	GRCh37	11	35828058	35828058	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1311310247	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	30	69	0	ENST00000299413.5:c.*123C>A			ENST00000299413	NM_017583.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31461.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TGTGTCCCCAG	NONE	.	.	.	.	.	ENSP00000299413	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299413	Transcript	.	.	ENSG00000166326	19016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRI44_HUMAN	TRIM44	HGNC	.	.	UPI00000725C5	SNV	TRIM44,3_prime_UTR_variant,,ENST00000299413,;TRIM44,non_coding_transcript_exon_variant,,ENST00000532066,;	1465	69	87	SUCCESS
DNAJA4	55466	.	GRCh37	15	78556708	78556709	+	upstream_gene_variant	5'Flank	INS	-	-	AAAGG	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	23	0				ENST00000343789		18		0	.	.	.	.	.	AAAGG	P/PKX	protein_coding	YES	CCDS10299.2	53-54	INDELOCATOR|VARSCANI	.	GCAGCCAAAGG	NONE	.	.	hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF75	.	.	ENSP00000378324	.	1/8	.	.	.	.	.	.	.	.	.	1/8	PASS	ENST00000394855	Transcript	.	.	ENSG00000140403	14885	6	.	HIGH	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJA4_HUMAN	DNAJA4	HGNC	Q8N2A9_HUMAN,Q7Z4D5_HUMAN,C9JDE6_HUMAN	.	UPI00001FE98C	insertion	DNAJA4,frameshift_variant,p.Gln21ArgfsTer13,ENST00000394855,;DNAJA4,frameshift_variant,p.Gln21ArgfsTer13,ENST00000489435,;DNAJA4,upstream_gene_variant,,ENST00000394852,;DNAJA4,upstream_gene_variant,,ENST00000446172,;DNAJA4,upstream_gene_variant,,ENST00000343789,;RP11-762H8.3,upstream_gene_variant,,ENST00000558971,;RP11-762H8.3,upstream_gene_variant,,ENST00000559954,;DNAJA4,upstream_gene_variant,,ENST00000483802,;DNAJA4,upstream_gene_variant,,ENST00000423642,;DNAJA4,upstream_gene_variant,,ENST00000440911,;DNAJA4,upstream_gene_variant,,ENST00000542636,;	281-282	23	17	SUCCESS
GLG1	2734	.	GRCh37	16	74485872	74485872	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1267466630	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	22	52	0	ENST00000422840.2:c.*1193T>C			ENST00000422840	NM_001145667.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32485.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTAATGTG	NONE	.	.	.	.	.	ENSP00000205061	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000205061	Transcript	.	.	ENSG00000090863	4316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GSLG1_HUMAN	GLG1	HGNC	Q6ZMF1_HUMAN,H3BQT1_HUMAN	.	UPI00001FFBD9	SNV	GLG1,3_prime_UTR_variant,,ENST00000422840,;GLG1,3_prime_UTR_variant,,ENST00000205061,;GLG1,downstream_gene_variant,,ENST00000447066,;RNU6-237P,upstream_gene_variant,,ENST00000515985,;RP11-252A24.7,upstream_gene_variant,,ENST00000566788,;GLG1,downstream_gene_variant,,ENST00000562090,;GLG1,downstream_gene_variant,,ENST00000567951,;GLG1,downstream_gene_variant,,ENST00000561942,;	3714	52	50	SUCCESS
CYB561	1534	.	GRCh37	17	61511651	61511651	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000360793.3:c.*112G>C			ENST00000360793	NM_001915.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11636.1	.	MUTECT|MUSE	.	TGCACCCACGC	NONE	.	.	.	.	.	ENSP00000376702	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000392976	Transcript	.	.	ENSG00000008283	2571	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CY561_HUMAN	CYB561	HGNC	J3QS47_HUMAN	.	UPI0000126C79	SNV	CYB561,3_prime_UTR_variant,,ENST00000580691,;CYB561,3_prime_UTR_variant,,ENST00000581573,;CYB561,3_prime_UTR_variant,,ENST00000360793,;CYB561,3_prime_UTR_variant,,ENST00000448884,;CYB561,3_prime_UTR_variant,,ENST00000585153,;CYB561,3_prime_UTR_variant,,ENST00000392975,;CYB561,3_prime_UTR_variant,,ENST00000584031,;CYB561,3_prime_UTR_variant,,ENST00000392976,;CYB561,3_prime_UTR_variant,,ENST00000582034,;CYB561,3_prime_UTR_variant,,ENST00000542042,;CYB561,intron_variant,,ENST00000582297,;CYB561,downstream_gene_variant,,ENST00000580592,;CYB561,downstream_gene_variant,,ENST00000584291,;CYB561,downstream_gene_variant,,ENST00000582997,;CYB561,downstream_gene_variant,,ENST00000578072,;RP11-269G24.4,upstream_gene_variant,,ENST00000584608,;RP11-269G24.3,upstream_gene_variant,,ENST00000583552,;CYB561,non_coding_transcript_exon_variant,,ENST00000581163,;CYB561,downstream_gene_variant,,ENST00000577989,;CYB561,downstream_gene_variant,,ENST00000578016,;CYB561,downstream_gene_variant,,ENST00000583478,;CYB561,downstream_gene_variant,,ENST00000582143,;CYB561,downstream_gene_variant,,ENST00000577368,;	1168	8	11	SUCCESS
CTD-3105H18.14	0	.	GRCh37	19	12491496	12491496	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	27	57	0	ENST00000435033.1:c.*755G>T			ENST00000435033				0	.	.	.	.	.	A	.	nonsense_mediated_decay	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTTCACGTC	NONE	.	.	.	.	.	ENSP00000394047	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000435033	Transcript	.	.	ENSG00000268744	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-3105H18.14	Clone_based_vega_gene	F2Z351_HUMAN	.	UPI00001CE054	SNV	CTD-3105H18.14,3_prime_UTR_variant,,ENST00000435033,;CTD-3105H18.4,non_coding_transcript_exon_variant,,ENST00000507003,;	1100	57	110	SUCCESS
ZNF493	284443	.	GRCh37	19	21609856	21609856	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	120	54	94	0	ENST00000355504.4:c.*2070A>T			ENST00000355504	NM_175910.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGATCATT	NONE	.	.	.	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	SNV	ZNF493,3_prime_UTR_variant,,ENST00000355504,;ZNF493,3_prime_UTR_variant,,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	4504	94	174	SUCCESS
ZNF507	22847	.	GRCh37	19	32874076	32874076	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	51	92	0	ENST00000311921.4:c.*87A>T			ENST00000311921	NM_014910.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32985.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCACAGAA	NONE	.	.	.	.	.	ENSP00000312277	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000311921	Transcript	.	.	ENSG00000168813	23783	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN507_HUMAN	ZNF507	HGNC	.	.	UPI0000202010	SNV	ZNF507,3_prime_UTR_variant,,ENST00000355898,;ZNF507,3_prime_UTR_variant,,ENST00000311921,;ZNF507,3_prime_UTR_variant,,ENST00000544431,;ZNF507,non_coding_transcript_exon_variant,,ENST00000586664,;	3141	92	131	SUCCESS
ZNF347	84671	.	GRCh37	19	53643418	53643418	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	15	0	ENST00000334197.7:c.*143C>A			ENST00000334197	NM_032584.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54314.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGTGTTGGG	NONE	.	.	.	.	.	ENSP00000405218	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000452676	Transcript	.	.	ENSG00000197937	16447	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN347_HUMAN	ZNF347	HGNC	M0R1E9_HUMAN,M0QXR8_HUMAN	.	UPI000059D78C	SNV	ZNF347,3_prime_UTR_variant,,ENST00000601469,;ZNF347,3_prime_UTR_variant,,ENST00000334197,;ZNF347,3_prime_UTR_variant,,ENST00000452676,;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000597183,;ZNF347,downstream_gene_variant,,ENST00000595967,;CTD-2620I22.7,upstream_gene_variant,,ENST00000596766,;	3093	15	34	SUCCESS
SLC9C2	284525	.	GRCh37	1	173469942	173469942	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	18	0	ENST00000367714.3:c.*291C>T			ENST00000367714	NM_178527.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1308.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGCTGGAAAC	NONE	.	.	.	.	.	ENSP00000356687	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000367714	Transcript	.	.	ENSG00000162753	28664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SL9C2_HUMAN	SLC9C2	HGNC	F5H342_HUMAN	.	UPI0000197379	SNV	SLC9C2,3_prime_UTR_variant,,ENST00000367714,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	4089	18	38	SUCCESS
OLIG2	10215	.	GRCh37	21	34400613	34400613	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	20	43	0	ENST00000333337.3:c.*471G>T			ENST00000333337				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13620.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCGGGTGGGA	NONE	.	.	.	.	.	ENSP00000331040	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333337	Transcript	.	.	ENSG00000205927	9398	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OLIG2_HUMAN	OLIG2	HGNC	Q05BP9_HUMAN,C9J444_HUMAN	.	UPI0000130C83	SNV	OLIG2,3_prime_UTR_variant,,ENST00000382357,;OLIG2,3_prime_UTR_variant,,ENST00000333337,;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	2371	43	60	SUCCESS
LRRC3	81543	.	GRCh37	21	45877591	45877591	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	37	88	0	ENST00000291592.4:c.*290C>G			ENST00000291592	NM_030891.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13711.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTCCACCA	NONE	.	.	.	.	.	ENSP00000291592	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000291592	Transcript	.	.	ENSG00000160233	14965	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRRC3_HUMAN	LRRC3	HGNC	.	.	UPI000012E946	SNV	LRRC3,3_prime_UTR_variant,,ENST00000291592,;LRRC3DN,upstream_gene_variant,,ENST00000596691,;LRRC3-AS1,upstream_gene_variant,,ENST00000426578,;	1381	88	90	SUCCESS
C2orf50	130813	.	GRCh37	2	11284492	11284492	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	7	12	0	ENST00000381585.3:c.*255C>A			ENST00000381585				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1678.1	.	MUTECT|MUSE	.	TGCCCCATGAA	NONE	.	.	.	.	.	ENSP00000370997	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381585	Transcript	.	.	ENSG00000150873	26324	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CB050_HUMAN	C2orf50	HGNC	.	.	UPI000006ECF0	SNV	C2orf50,3_prime_UTR_variant,,ENST00000381585,;C2orf50,intron_variant,,ENST00000405022,;	1026	12	19	SUCCESS
PREB	10113	.	GRCh37	2	27354146	27354146	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	18	38	0	ENST00000260643.2:c.*136C>G			ENST00000260643	NM_013388.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1738.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGGCAGGC	NONE	.	.	.	.	.	ENSP00000260643	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000260643	Transcript	.	.	ENSG00000138073	9356	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PREB_HUMAN	PREB	HGNC	Q05DB2_HUMAN	.	UPI0000073C9D	SNV	PREB,3_prime_UTR_variant,,ENST00000456259,;PREB,3_prime_UTR_variant,,ENST00000430533,;PREB,3_prime_UTR_variant,,ENST00000406567,;PREB,3_prime_UTR_variant,,ENST00000260643,;ABHD1,downstream_gene_variant,,ENST00000416071,;ABHD1,downstream_gene_variant,,ENST00000316470,;PREB,downstream_gene_variant,,ENST00000416802,;PREB,3_prime_UTR_variant,,ENST00000444452,;PREB,non_coding_transcript_exon_variant,,ENST00000468045,;ABHD1,downstream_gene_variant,,ENST00000448950,;ABHD1,downstream_gene_variant,,ENST00000496739,;ABHD1,downstream_gene_variant,,ENST00000489120,;PREB,downstream_gene_variant,,ENST00000474802,;ABHD1,downstream_gene_variant,,ENST00000420647,;PREB,downstream_gene_variant,,ENST00000441451,;	1644	38	43	SUCCESS
SELT	0	.	GRCh37	3	150320957	150320957	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	15	16	0				ENST00000471696	NM_016275.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3150.1	.	MUTECT|MUSE|VARSCANS	.	GGTGGTGAGTC	NONE	.	.	.	.	.	ENSP00000420076	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000479209	Transcript	.	.	ENSG00000120742	10759	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SERP1_HUMAN	SERP1	HGNC	.	.	UPI0000022CDB	SNV	SERP1,5_prime_UTR_variant,,ENST00000479209,;SELT,intron_variant,,ENST00000480740,;SELT,upstream_gene_variant,,ENST00000485923,;SELT,upstream_gene_variant,,ENST00000471696,;SELT,upstream_gene_variant,,ENST00000477889,;SERP1,non_coding_transcript_exon_variant,,ENST00000490945,;SERP1,non_coding_transcript_exon_variant,,ENST00000491195,;SERP1,upstream_gene_variant,,ENST00000484608,;SELT,upstream_gene_variant,,ENST00000492132,;	5	16	24	SUCCESS
SLC7A11	23657	.	GRCh37	4	139093093	139093093	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	34	97	0	ENST00000280612.5:c.*17T>A			ENST00000280612	NM_014331.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3742.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAGATCTCA	NONE	.	.	.	.	.	ENSP00000280612	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000280612	Transcript	.	.	ENSG00000151012	11059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	XCT_HUMAN	SLC7A11	HGNC	Q9P1X0_HUMAN,Q4W5A5_HUMAN	.	UPI0000138FD5	SNV	SLC7A11,3_prime_UTR_variant,,ENST00000280612,;SLC7A11-AS1,intron_variant,,ENST00000512786,;SLC7A11-AS1,intron_variant,,ENST00000510767,;SLC7A11-AS1,intron_variant,,ENST00000512538,;SLC7A11,3_prime_UTR_variant,,ENST00000509248,;SLC7A11-AS1,downstream_gene_variant,,ENST00000514752,;	1803	97	83	SUCCESS
PURA	5813	.	GRCh37	5	139495849	139495849	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	48	149	0	ENST00000331327.3:c.*1114T>C			ENST00000331327	NM_005859.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4220.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACTTGTAA	NONE	.	.	.	.	.	ENSP00000332706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000331327	Transcript	1	.	ENSG00000185129	9701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PURA_HUMAN	PURA	HGNC	.	.	UPI0000132B76	SNV	PURA,3_prime_UTR_variant,,ENST00000331327,;PURA,downstream_gene_variant,,ENST00000505703,;PURA,downstream_gene_variant,,ENST00000502351,;	2142	149	129	SUCCESS
RNF182	221687	.	GRCh37	6	13978873	13978873	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	48	67	1	ENST00000488300.1:c.*779C>T			ENST00000488300	NM_152737.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4531.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACCTTCAT	NONE	.	.	.	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	SNV	RNF182,3_prime_UTR_variant,,ENST00000537663,;RNF182,3_prime_UTR_variant,,ENST00000544682,;RNF182,3_prime_UTR_variant,,ENST00000488300,;RNF182,3_prime_UTR_variant,,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000488763,;	2046	68	91	SUCCESS
TMEM14A	28978	.	GRCh37	6	52550869	52550869	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	83	0	ENST00000211314.4:c.*22T>G			ENST00000211314	NM_014051.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4943.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAACTAAGTT	NONE	.	.	.	.	.	ENSP00000211314	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000211314	Transcript	.	.	ENSG00000096092	21076	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM14A_HUMAN	TMEM14A	HGNC	.	.	UPI0000131471	SNV	TMEM14A,3_prime_UTR_variant,,ENST00000211314,;RP1-152L7.8,upstream_gene_variant,,ENST00000603072,;RP1-152L7.3,downstream_gene_variant,,ENST00000404253,;	475	83	68	SUCCESS
CHRNB3	1142	.	GRCh37	8	42591884	42591884	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	11	46	0	ENST00000289957.2:c.*123A>T			ENST00000289957	NM_000749.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6134.1	.	MUTECT|MUSE	.	ATGGAACATCT	NONE	.	.	.	.	.	ENSP00000289957	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000289957	Transcript	.	.	ENSG00000147432	1963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ACHB3_HUMAN	CHRNB3	HGNC	.	.	UPI0000125272	SNV	CHRNB3,3_prime_UTR_variant,,ENST00000289957,;	1628	46	24	SUCCESS
SLCO5A1	81796	.	GRCh37	8	70585100	70585100	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs774484998	.	TCGA-G3-AAV0-01	TCGA-G3-AAV0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	22	52	0	ENST00000260126.4:c.*4T>A			ENST00000260126	NM_030958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6205.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTCAAGCTTC	NONE	.	.	.	.	.	ENSP00000260126	.	10/10	.	.	.	.	.	.	.	.	rs774484998	10/10	PASS	ENST00000260126	Transcript	.	.	ENSG00000137571	19046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SO5A1_HUMAN	SLCO5A1	HGNC	.	.	UPI0000140F53	SNV	SLCO5A1,3_prime_UTR_variant,,ENST00000530307,;SLCO5A1,3_prime_UTR_variant,,ENST00000524945,;SLCO5A1,3_prime_UTR_variant,,ENST00000260126,;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	3258	52	54	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	28	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	28	25	SUCCESS
TRIM44	54765	.	GRCh37	11	35828048	35828048	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	42	84	0	ENST00000299413.5:c.*113C>T			ENST00000299413	NM_017583.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31461.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCACCAGAT	NONE	.	.	.	.	.	ENSP00000299413	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299413	Transcript	.	.	ENSG00000166326	19016	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI44_HUMAN	TRIM44	HGNC	.	.	UPI00000725C5	SNV	TRIM44,3_prime_UTR_variant,,ENST00000299413,;TRIM44,non_coding_transcript_exon_variant,,ENST00000532066,;	1455	84	86	SUCCESS
ANO2	57101	.	GRCh37	12	5672426	5672426	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	14	0	ENST00000356134.5:c.*39G>T			ENST00000356134				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTGTCTCTGC	NONE	.	.	.	.	.	ENSP00000314048	.	26/26	.	.	.	.	.	.	.	.	.	26/26	PASS	ENST00000327087	Transcript	.	.	ENSG00000047617	1183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANO2_HUMAN	ANO2	HGNC	Q69YW4_HUMAN	.	UPI0001823FDD	SNV	ANO2,3_prime_UTR_variant,,ENST00000327087,;ANO2,3_prime_UTR_variant,,ENST00000546188,;ANO2,3_prime_UTR_variant,,ENST00000356134,;ANO2,non_coding_transcript_exon_variant,,ENST00000536751,;	3108	14	17	SUCCESS
PSME1	5720	.	GRCh37	14	24608143	24608143	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	15	40	0	ENST00000206451.6:c.*118G>A			ENST00000206451	NM_001281529.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41930.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCAGGCACA	NONE	.	.	.	.	.	ENSP00000372155	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382708	Transcript	.	.	ENSG00000092010	9568	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSME1_HUMAN	PSME1	HGNC	Q86SZ9_HUMAN	.	UPI0000196A8A	SNV	PSME1,3_prime_UTR_variant,,ENST00000206451,;PSME1,3_prime_UTR_variant,,ENST00000559123,;PSME1,3_prime_UTR_variant,,ENST00000382708,;PSME1,3_prime_UTR_variant,,ENST00000561435,;EMC9,downstream_gene_variant,,ENST00000216799,;EMC9,downstream_gene_variant,,ENST00000560403,;PSME2,downstream_gene_variant,,ENST00000216802,;EMC9,downstream_gene_variant,,ENST00000419198,;PSME2,downstream_gene_variant,,ENST00000560410,;RP11-468E2.5,upstream_gene_variant,,ENST00000558478,;PSME2,downstream_gene_variant,,ENST00000471700,;PSME1,downstream_gene_variant,,ENST00000470718,;EMC9,downstream_gene_variant,,ENST00000558200,;PSME1,3_prime_UTR_variant,,ENST00000558112,;PSME1,non_coding_transcript_exon_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000560370,;PSME2,downstream_gene_variant,,ENST00000558273,;PSME1,downstream_gene_variant,,ENST00000561142,;PSME2,downstream_gene_variant,,ENST00000559042,;EMC9,downstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559453,;EMC9,downstream_gene_variant,,ENST00000558045,;PSME2,downstream_gene_variant,,ENST00000559005,;PSME1,downstream_gene_variant,,ENST00000560420,;PSME2,downstream_gene_variant,,ENST00000558931,;PSME1,downstream_gene_variant,,ENST00000561059,;EMC9,downstream_gene_variant,,ENST00000560600,;	1106	40	49	SUCCESS
CAPN2	824	.	GRCh37	1	223962623	223962623	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	30	67	0	ENST00000295006.5:c.*64T>C			ENST00000295006	NM_001748.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31035.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCATAGAAA	NONE	.	.	.	.	.	ENSP00000295006	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000295006	Transcript	.	.	ENSG00000162909	1479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CAN2_HUMAN	CAPN2	HGNC	.	.	UPI000059D0B9	SNV	CAPN2,3_prime_UTR_variant,,ENST00000433674,;CAPN2,3_prime_UTR_variant,,ENST00000295006,;TP53BP2,downstream_gene_variant,,ENST00000391878,;TP53BP2,downstream_gene_variant,,ENST00000343537,;CAPN2,non_coding_transcript_exon_variant,,ENST00000487223,;CAPN2,non_coding_transcript_exon_variant,,ENST00000463997,;CAPN2,non_coding_transcript_exon_variant,,ENST00000474026,;CAPN2,downstream_gene_variant,,ENST00000472601,;CAPN2,downstream_gene_variant,,ENST00000498027,;CAPN2,downstream_gene_variant,,ENST00000492664,;	2476	67	79	SUCCESS
OTOF	9381	.	GRCh37	2	26681020	26681020	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	62	126	0	ENST00000272371.2:c.*86G>T			ENST00000272371	NM_194248.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1725.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTACCGGGTG	NONE	.	.	.	.	.	ENSP00000272371	.	47/47	.	.	.	.	.	.	.	.	.	47/47	PASS	ENST00000272371	Transcript	.	.	ENSG00000115155	8515	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OTOF_HUMAN	OTOF	HGNC	.	.	UPI000013D94D	SNV	OTOF,missense_variant,p.Arg1961Leu,ENST00000403946,;OTOF,missense_variant,p.Arg1194Leu,ENST00000339598,;OTOF,3_prime_UTR_variant,,ENST00000338581,;OTOF,3_prime_UTR_variant,,ENST00000272371,;OTOF,3_prime_UTR_variant,,ENST00000402415,;DRC1,downstream_gene_variant,,ENST00000288710,;DRC1,downstream_gene_variant,,ENST00000439066,;	6207	126	150	SUCCESS
TRIM59	286827	.	GRCh37	3	160155668	160155669	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	56	7	76	0	ENST00000309784.4:c.*91dup			ENST00000309784	NM_173084.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3190.1	.	INDELOCATOR*|PINDEL	.	CACTAATAAAG	NONE	.	.	.	.	.	ENSP00000311219	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000309784	Transcript	.	.	ENSG00000213186	30834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI59_HUMAN	TRIM59	HGNC	C9JE08_HUMAN,C9J9F0_HUMAN,C9J614_HUMAN,C9IZE0_HUMAN	.	UPI0000074490	insertion	TRIM59,3_prime_UTR_variant,,ENST00000309784,;TRIM59,intron_variant,,ENST00000543469,;SMC4,downstream_gene_variant,,ENST00000344722,;TRIM59,downstream_gene_variant,,ENST00000479460,;TRIM59,downstream_gene_variant,,ENST00000471155,;TRIM59,downstream_gene_variant,,ENST00000496222,;SMC4,downstream_gene_variant,,ENST00000469762,;SMC4,downstream_gene_variant,,ENST00000462787,;TRIM59,downstream_gene_variant,,ENST00000468542,;TRIM59,downstream_gene_variant,,ENST00000471396,;SMC4,downstream_gene_variant,,ENST00000357388,;TRIM59,downstream_gene_variant,,ENST00000494486,;SMC4,downstream_gene_variant,,ENST00000360111,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,;	1489-1490	76	63	SUCCESS
VPRBP	0	.	GRCh37	3	51432276	51432276	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	70	0				ENST00000423656				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33764.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCAGGGGGT	NONE	.	.	.	.	.	ENSP00000313890	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323686	Transcript	.	.	ENSG00000179837	24303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB15B_HUMAN	RBM15B	HGNC	.	.	UPI0000160BDE	SNV	RBM15B,3_prime_UTR_variant,,ENST00000323686,;VPRBP,downstream_gene_variant,,ENST00000423656,;VPRBP,downstream_gene_variant,,ENST00000335891,;	3546	70	71	SUCCESS
ATP6V1G2-DDX39B	100532737	.	GRCh37	6	31500561	31500561	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	rs745700709	.	TCGA-G3-AAV1-01	TCGA-G3-AAV1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	59	93	0	ENST00000376185.1:c.*1077A>G			ENST00000376185		288		0	.	.	.	.	.	C	N/S	protein_coding	YES	CCDS4697.1	863	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGGTTGAAC	NONE	byFrequency|byCluster	.	PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF204,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	.	.	ENSP00000379475	.	7/11	.	.	.	.	.	.	.	.	rs745700709,COSM372287	7/11	PASS	ENST00000396172	Transcript	.	.	ENSG00000198563	13917	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	0,1	.	.	benign(0.105)	.	deleterious(0.02)	0,1	DX39B_HUMAN	DDX39B	HGNC	Q7KYK3_HUMAN,F6WLT2_HUMAN,F6UN21_HUMAN,F6U6E2_HUMAN,F6TRA5_HUMAN,F6S4E6_HUMAN,F6QWI5_HUMAN	.	UPI0000001D0B	SNV	DDX39B,missense_variant,p.Asn303Ser,ENST00000417556,;DDX39B,missense_variant,p.Asn288Ser,ENST00000427214,;DDX39B,missense_variant,p.Asn210Ser,ENST00000431908,;DDX39B,missense_variant,p.Asn210Ser,ENST00000415382,;DDX39B,missense_variant,p.Asn288Ser,ENST00000458640,;DDX39B,missense_variant,p.Asn288Ser,ENST00000396172,;DDX39B,missense_variant,p.Asn52Ser,ENST00000417023,;DDX39B,missense_variant,p.Asn288Ser,ENST00000376177,;DDX39B,downstream_gene_variant,,ENST00000456662,;DDX39B,downstream_gene_variant,,ENST00000449074,;DDX39B,downstream_gene_variant,,ENST00000449757,;DDX39B,downstream_gene_variant,,ENST00000419338,;DDX39B,downstream_gene_variant,,ENST00000453105,;DDX39B,downstream_gene_variant,,ENST00000428450,;DDX39B,downstream_gene_variant,,ENST00000428098,;MCCD1,downstream_gene_variant,,ENST00000376191,;SNORD117,downstream_gene_variant,,ENST00000364915,;DDX39B,upstream_gene_variant,,ENST00000462421,;DDX39B,missense_variant,p.Asn80Ser,ENST00000484566,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,upstream_gene_variant,,ENST00000474961,;DDX39B,upstream_gene_variant,,ENST00000478365,;RPL15P4,downstream_gene_variant,,ENST00000416625,;	1494	93	130	SUCCESS
C12orf66	0	.	GRCh37	12	64587568	64587568	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	22	44	0	ENST00000398055.3:c.*54A>T			ENST00000398055	NM_152440.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41803.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATTAGGGC	NONE	.	.	.	.	.	ENSP00000381132	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000398055	Transcript	.	.	ENSG00000174206	26517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CL066_HUMAN	C12orf66	HGNC	.	.	UPI000013F222	SNV	C12orf66,3_prime_UTR_variant,,ENST00000544871,;C12orf66,3_prime_UTR_variant,,ENST00000398055,;C12orf66,intron_variant,,ENST00000311915,;	1446	44	48	SUCCESS
NRL	4901	.	GRCh37	14	24550157	24550157	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	8	40	0	ENST00000396997.1:c.*288A>C			ENST00000396997				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9608.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACACTTCCAC	NONE	.	.	.	.	.	ENSP00000454062	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000561028	Transcript	.	.	ENSG00000129535	8002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRL_HUMAN	NRL	HGNC	H0YNW2_HUMAN,A8MX14_HUMAN	.	UPI000000CC15	SNV	NRL,3_prime_UTR_variant,,ENST00000561028,;NRL,3_prime_UTR_variant,,ENST00000396997,;NRL,3_prime_UTR_variant,,ENST00000397002,;NRL,downstream_gene_variant,,ENST00000558280,;CPNE6,downstream_gene_variant,,ENST00000537691,;NRL,downstream_gene_variant,,ENST00000396995,;CPNE6,downstream_gene_variant,,ENST00000216775,;CPNE6,downstream_gene_variant,,ENST00000397016,;NRL,downstream_gene_variant,,ENST00000560550,;CPNE6,downstream_gene_variant,,ENST00000558995,;CPNE6,downstream_gene_variant,,ENST00000560845,;CPNE6,downstream_gene_variant,,ENST00000557829,;CPNE6,downstream_gene_variant,,ENST00000460657,;	1322	40	26	SUCCESS
NTSR1	4923	.	GRCh37	20	61391754	61391755	+	3_prime_UTR_variant	3'UTR	INS	-	-	C	rs59903116	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	10	0	ENST00000370501.3:c.*143dup			ENST00000370501	NM_002531.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13502.1	.	INDELOCATOR|VARSCANI	.	CTGGGACCCCC	NONE	.	.	.	.	.	ENSP00000359532	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000370501	Transcript	.	.	ENSG00000101188	8039	8	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NTR1_HUMAN	NTSR1	HGNC	.	.	UPI000013D6CF	insertion	NTSR1,3_prime_UTR_variant,,ENST00000370501,;NTSR1,non_coding_transcript_exon_variant,,ENST00000482259,;	1763-1764	10	15	SUCCESS
SKP2	6502	.	GRCh37	5	36182146	36182146	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	58	75	0	ENST00000274255.6:c.*13A>T			ENST00000274255	NM_005983.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3916.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCAGGATG	NONE	.	.	.	.	.	ENSP00000274255	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000274255	Transcript	.	.	ENSG00000145604	10901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SKP2_HUMAN	SKP2	HGNC	.	.	UPI0000073D61	SNV	SKP2,3_prime_UTR_variant,,ENST00000508514,;SKP2,3_prime_UTR_variant,,ENST00000274255,;SKP2,3_prime_UTR_variant,,ENST00000546211,;SKP2,intron_variant,,ENST00000274254,;SKP2,3_prime_UTR_variant,,ENST00000509692,;SKP2,intron_variant,,ENST00000504386,;	1484	75	98	SUCCESS
PSMB7	5695	.	GRCh37	9	127115844	127115844	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-G3-AAV2-01	TCGA-G3-AAV2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	44	0	ENST00000259457.3:c.*33del			ENST00000259457	NM_002799.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6855.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CACCTTCCAGAA	NONE	.	.	.	.	.	ENSP00000259457	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000259457	Transcript	.	.	ENSG00000136930	9544	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSB7_HUMAN	PSMB7	HGNC	E9KL30_HUMAN	.	UPI00001325C7	deletion	PSMB7,3_prime_UTR_variant,,ENST00000259457,;NEK6,downstream_gene_variant,,ENST00000546191,;NEK6,downstream_gene_variant,,ENST00000373603,;PSMB7,downstream_gene_variant,,ENST00000536392,;NEK6,downstream_gene_variant,,ENST00000540326,;NEK6,downstream_gene_variant,,ENST00000394199,;NEK6,downstream_gene_variant,,ENST00000320246,;NEK6,downstream_gene_variant,,ENST00000539416,;NEK6,downstream_gene_variant,,ENST00000545174,;NEK6,downstream_gene_variant,,ENST00000373600,;AL137846.1,upstream_gene_variant,,ENST00000583657,;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;	881	44	51	SUCCESS
SLC38A4	55089	.	GRCh37	12	47160445	47160458	+	3_prime_UTR_variant	3'UTR	DEL	AACCATTTCCAATA	AACCATTTCCAATA	CACC	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	AACCATTTCCAATA	AACCATTTCCAATA	.	.	.	.	.	.	.	.	.	.	.	.	.	83	14	67	0	ENST00000266579.4:c.*26_*39delinsGGTG			ENST00000266579	NM_018018.4			0	.	.	.	.	.	CACC	.	protein_coding	YES	CCDS8750.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACTTGTAACCATTTCCAATAGAAAA	NONE	.	.	.	.	.	ENSP00000389843	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000447411	Transcript	.	.	ENSG00000139209	14679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	S38A4_HUMAN	SLC38A4	HGNC	F8VRD9_HUMAN,F8VQY9_HUMAN	.	UPI00000468F8	substitution	SLC38A4,3_prime_UTR_variant,,ENST00000266579,;SLC38A4,3_prime_UTR_variant,,ENST00000447411,;SLC38A4,intron_variant,,ENST00000550670,;	1877-1890	67	97	SUCCESS
RNY4P14	100379584	.	GRCh37	13	40362736	40362736	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs1566049725	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	8	0				ENST00000363656				0	.	.	.	.	.	G	.	misc_RNA	YES	.	.	MUTECT|MUSE	.	CATGTAGAGTT	NONE	.	3089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000363656	Transcript	.	.	ENSG00000200526	34064	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RNY4P14	HGNC	.	.	.	SNV	COG6,3_prime_UTR_variant,,ENST00000416691,;RNY4P14,upstream_gene_variant,,ENST00000363656,;	.	8	12	SUCCESS
SLITRK5	26050	.	GRCh37	13	88331524	88331524	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	71	20	79	0	ENST00000325089.6:c.*1004G>C			ENST00000325089	NM_015567.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9465.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGAGAGAAT	NONE	.	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,downstream_gene_variant,,ENST00000400028,;	4100	79	91	SUCCESS
ZBTB42	100128927	.	GRCh37	14	105270490	105270491	+	3_prime_UTR_variant	3'UTR	INS	-	-	TGTG	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	80	11	89	0	ENST00000342537.7:c.*1705_*1708dup			ENST00000342537	NM_001137601.1			0	.	.	.	.	.	TGTG	.	protein_coding	YES	CCDS45174.1	.	INDELOCATOR|VARSCANI	.	GGTGTGTGTGT	NONE	.	.	.	.	.	ENSP00000409107	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342537	Transcript	.	.	ENSG00000179627	32550	21	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBT42_HUMAN	ZBTB42	HGNC	.	.	UPI0001849D48	insertion	ZBTB42,3_prime_UTR_variant,,ENST00000342537,;ZBTB42,downstream_gene_variant,,ENST00000555360,;	3241-3242	89	92	SUCCESS
ANKS3	124401	.	GRCh37	16	4747019	4747019	+	splice_region_variant,3_prime_UTR_variant	Splice_Region	SNP	G	G	C	rs112731039	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	35	0	ENST00000304283.4:c.*10C>G			ENST00000304283	NM_133450.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10520.1	.	MUTECT|MUSE	.	TCACCGGCCCG	NONE	byCluster	.	.	.	.	ENSP00000304586	.	17/18	.	.	.	.	.	.	.	.	rs112731039	17/18	PASS	ENST00000304283	Transcript	.	.	ENSG00000168096	29422	.	.	LOW	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANKS3_HUMAN	ANKS3	HGNC	K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN	.	UPI00001C08FE	SNV	ANKS3,splice_region_variant,,ENST00000304283,;ANKS3,splice_region_variant,,ENST00000446014,;ANKS3,splice_region_variant,,ENST00000585773,;ANKS3,downstream_gene_variant,,ENST00000586605,;ANKS3,downstream_gene_variant,,ENST00000592421,;NUDT16L1,downstream_gene_variant,,ENST00000590460,;NUDT16L1,downstream_gene_variant,,ENST00000586252,;ANKS3,downstream_gene_variant,,ENST00000588513,;NUDT16L1,downstream_gene_variant,,ENST00000304301,;ANKS3,downstream_gene_variant,,ENST00000450067,;ANKS3,downstream_gene_variant,,ENST00000586166,;NUDT16L1,downstream_gene_variant,,ENST00000586536,;NUDT16L1,downstream_gene_variant,,ENST00000405142,;ANKS3,splice_region_variant,,ENST00000591653,;ANKS3,splice_region_variant,,ENST00000592077,;ANKS3,splice_region_variant,,ENST00000590193,;ANKS3,splice_region_variant,,ENST00000591185,;ANKS3,splice_region_variant,,ENST00000589035,;ANKS3,splice_region_variant,,ENST00000590803,;ANKS3,downstream_gene_variant,,ENST00000592068,;ANKS3,downstream_gene_variant,,ENST00000588398,;ANKS3,downstream_gene_variant,,ENST00000590730,;ANKS3,downstream_gene_variant,,ENST00000592840,;	2276	35	40	SUCCESS
FOXL1	2300	.	GRCh37	16	86613580	86613580	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs755702199	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	19	74	0	ENST00000320241.3:c.*213A>T			ENST00000320241	NM_005250.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10959.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGAGACTTAA	NONE	.	.	.	.	.	ENSP00000326272	.	1/1	.	.	.	.	.	.	.	.	rs755702199	1/1	PASS	ENST00000320241	Transcript	.	.	ENSG00000176678	3817	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FOXL1_HUMAN	FOXL1	HGNC	M0R279_HUMAN	.	UPI000012ADE2	SNV	FOXL1,3_prime_UTR_variant,,ENST00000320241,;FOXL1,downstream_gene_variant,,ENST00000593625,;	1466	74	77	SUCCESS
CD209	30835	.	GRCh37	19	7807911	7807911	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	37	0	ENST00000315599.7:c.*14C>T			ENST00000315599	NM_021155.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12186.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGGGGGTG	NONE	.	.	.	.	.	ENSP00000315477	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000315599	Transcript	1	.	ENSG00000090659	1641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD209_HUMAN	CD209	HGNC	B4E2A8_HUMAN	.	UPI000003422C	SNV	CD209,3_prime_UTR_variant,,ENST00000593660,;CD209,3_prime_UTR_variant,,ENST00000394173,;CD209,3_prime_UTR_variant,,ENST00000301357,;CD209,3_prime_UTR_variant,,ENST00000315599,;CD209,3_prime_UTR_variant,,ENST00000601951,;CD209,downstream_gene_variant,,ENST00000315591,;CD209,downstream_gene_variant,,ENST00000601256,;CD209,downstream_gene_variant,,ENST00000204801,;CD209,downstream_gene_variant,,ENST00000394161,;CD209,downstream_gene_variant,,ENST00000354397,;CD209,downstream_gene_variant,,ENST00000602261,;CD209,downstream_gene_variant,,ENST00000593821,;	1252	37	41	SUCCESS
CD209	30835	.	GRCh37	19	7807912	7807912	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs867459495	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	37	0	ENST00000315599.7:c.*13C>T			ENST00000315599	NM_021155.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12186.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAGGGGGTGA	NONE	.	.	.	.	.	ENSP00000315477	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000315599	Transcript	1	.	ENSG00000090659	1641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD209_HUMAN	CD209	HGNC	B4E2A8_HUMAN	.	UPI000003422C	SNV	CD209,3_prime_UTR_variant,,ENST00000593660,;CD209,3_prime_UTR_variant,,ENST00000394173,;CD209,3_prime_UTR_variant,,ENST00000301357,;CD209,3_prime_UTR_variant,,ENST00000315599,;CD209,3_prime_UTR_variant,,ENST00000601951,;CD209,downstream_gene_variant,,ENST00000315591,;CD209,downstream_gene_variant,,ENST00000601256,;CD209,downstream_gene_variant,,ENST00000204801,;CD209,downstream_gene_variant,,ENST00000394161,;CD209,downstream_gene_variant,,ENST00000354397,;CD209,downstream_gene_variant,,ENST00000602261,;CD209,downstream_gene_variant,,ENST00000593821,;	1251	37	41	SUCCESS
NECAP2	55707	.	GRCh37	1	16785529	16785529	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	13	35	0	ENST00000337132.5:c.*144C>G			ENST00000337132	NM_018090.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44066.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAACCGGGC	NONE	.	.	.	.	.	ENSP00000391942	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000443980	Transcript	.	.	ENSG00000157191	25528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NECP2_HUMAN	NECAP2	HGNC	.	.	UPI0000072819	SNV	NECAP2,3_prime_UTR_variant,,ENST00000337132,;NECAP2,3_prime_UTR_variant,,ENST00000457722,;NECAP2,3_prime_UTR_variant,,ENST00000406746,;NECAP2,3_prime_UTR_variant,,ENST00000443980,;NECAP2,downstream_gene_variant,,ENST00000504551,;RP4-798A10.2,upstream_gene_variant,,ENST00000457898,;NECAP2,3_prime_UTR_variant,,ENST00000492095,;NECAP2,non_coding_transcript_exon_variant,,ENST00000496239,;NECAP2,downstream_gene_variant,,ENST00000459640,;NECAP2,downstream_gene_variant,,ENST00000513161,;NECAP2,downstream_gene_variant,,ENST00000509727,;	886	35	52	SUCCESS
OR14A16	284532	.	GRCh37	1	247978099	247978099	+	downstream_gene_variant	3'Flank	DEL	C	C	-	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	29	63	0				ENST00000357627	NM_001001966.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31097.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAACAGCTTTTA	NONE	.	3	.	.	.	ENSP00000350248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000357627	Transcript	.	.	ENSG00000196772	15022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O14AG_HUMAN	OR14A16	HGNC	.	.	UPI0000041CE2	deletion	OR14A16,downstream_gene_variant,,ENST00000357627,;	.	63	158	SUCCESS
EXO5	64789	.	GRCh37	1	40981862	40981862	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	338	107	359	0	ENST00000296380.4:c.*524C>G			ENST00000296380	NM_022774.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS453.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCTCAAAGA	NONE	.	153	.	.	.	ENSP00000361788	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000372703	Transcript	.	.	ENSG00000164002	26115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXO5_HUMAN	EXO5	HGNC	.	.	UPI00000722CF	SNV	EXO5,3_prime_UTR_variant,,ENST00000296380,;EXO5,downstream_gene_variant,,ENST00000419161,;EXO5,downstream_gene_variant,,ENST00000415550,;EXO5,downstream_gene_variant,,ENST00000420209,;EXO5,downstream_gene_variant,,ENST00000358527,;EXO5,downstream_gene_variant,,ENST00000432259,;EXO5,downstream_gene_variant,,ENST00000372703,;EXO5,downstream_gene_variant,,ENST00000418186,;EXO5,downstream_gene_variant,,ENST00000443729,;RP11-656D10.6,intron_variant,,ENST00000437060,;RP11-656D10.5,upstream_gene_variant,,ENST00000453437,;EXO5,downstream_gene_variant,,ENST00000471429,;	.	359	446	SUCCESS
KIAA1841	84542	.	GRCh37	2	61349521	61349521	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	3	11	0	ENST00000402291.1:c.*224A>G			ENST00000402291	NM_001129993.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46296.1	.	MUTECT|MUSE	.	ATTCTAGGCTA	NONE	.	.	.	.	.	ENSP00000385579	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000402291	Transcript	.	.	ENSG00000162929	29387	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1841_HUMAN	KIAA1841	HGNC	.	.	UPI0000197410	SNV	KIAA1841,3_prime_UTR_variant,,ENST00000402291,;KIAA1841,3_prime_UTR_variant,,ENST00000453873,;KIAA1841,intron_variant,,ENST00000295031,;KIAA1841,downstream_gene_variant,,ENST00000356719,;KIAA1841,intron_variant,,ENST00000462959,;KIAA1841,downstream_gene_variant,,ENST00000488322,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;KIAA1841,downstream_gene_variant,,ENST00000471625,;	2622	11	12	SUCCESS
SLC6A1	6529	.	GRCh37	3	11078828	11078828	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs761386108	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	9	0	ENST00000287766.4:c.*176C>T			ENST00000287766	NM_003042.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2603.1	.	MUTECT|MUSE	.	CCTGCCGTGGG	NONE	.	.	.	.	.	ENSP00000287766	.	16/16	.	.	.	.	.	.	.	.	rs761386108	16/16	PASS	ENST00000287766	Transcript	.	.	ENSG00000157103	11042	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SC6A1_HUMAN	SLC6A1	HGNC	C9J5P8_HUMAN,B7Z3C5_HUMAN	.	UPI000013DECF	SNV	SLC6A1,3_prime_UTR_variant,,ENST00000536032,;SLC6A1,3_prime_UTR_variant,,ENST00000287766,;SLC6A1,non_coding_transcript_exon_variant,,ENST00000495636,;	2397	9	14	SUCCESS
PCDHB7	56129	.	GRCh37	5	140555222	140555222	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1554280547	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	412	59	353	1	ENST00000231137.3:c.*424T>C			ENST00000231137	NM_018940.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4249.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CACTTTTAATC	NONE	.	.	.	.	.	ENSP00000231137	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000231137	Transcript	.	.	ENSG00000113212	8692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDB7_HUMAN	PCDHB7	HGNC	.	.	UPI00001273E3	SNV	PCDHB7,3_prime_UTR_variant,,ENST00000231137,;PCDHB8,upstream_gene_variant,,ENST00000239444,;	2980	354	471	SUCCESS
HIST1H1B	0	.	GRCh37	6	27839711	27839711	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs747419710	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	112	28	83	0				ENST00000331442	NM_005322.2	128		0	.	.	.	.	.	A	A/V	protein_coding	YES	CCDS4636.1	383	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCGCAAGC	NONE	.	.	Prints_domain:PR00622,Superfamily_domains:SSF47113,SMART_domains:SM00428,Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR11426	.	.	ENSP00000329554	.	1/1	.	.	.	.	.	.	.	.	rs747419710	1/1	PASS	ENST00000328488	Transcript	.	.	ENSG00000182572	4771	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.092)	.	deleterious_low_confidence(0)	.	H31_HUMAN	HIST1H3I	HGNC	.	.	UPI00000003C7	SNV	HIST1H3I,missense_variant,p.Ala128Val,ENST00000328488,;HIST1H1B,upstream_gene_variant,,ENST00000331442,;HIST1H4L,downstream_gene_variant,,ENST00000355981,;	389	83	140	SUCCESS
C9orf116	138162	.	GRCh37	9	138387103	138387103	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	18	0	ENST00000429260.2:c.*170T>A			ENST00000429260	NM_001048265.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43899.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCAGGACT	NONE	.	.	.	.	.	ENSP00000395281	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000429260	Transcript	.	.	ENSG00000160345	28435	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI116_HUMAN	C9orf116	HGNC	.	.	UPI0000210EFC	SNV	C9orf116,3_prime_UTR_variant,,ENST00000371791,;C9orf116,3_prime_UTR_variant,,ENST00000371789,;C9orf116,3_prime_UTR_variant,,ENST00000429260,;C9orf116,downstream_gene_variant,,ENST00000419770,;MRPS2,upstream_gene_variant,,ENST00000371785,;C9orf116,downstream_gene_variant,,ENST00000371786,;	602	18	17	SUCCESS
DCX	1641	.	GRCh37	X	110544584	110544584	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	12	0	ENST00000338081.3:c.*331A>G			ENST00000338081	NM_000555.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14556.1	.	MUTECT|MUSE	.	GACTGTATGGG	NONE	.	.	.	.	.	ENSP00000337697	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000338081	Transcript	.	.	ENSG00000077279	2714	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DCX_HUMAN	DCX	HGNC	E7EU50_HUMAN	.	UPI000013D33F	SNV	DCX,3_prime_UTR_variant,,ENST00000371993,;DCX,3_prime_UTR_variant,,ENST00000356220,;DCX,3_prime_UTR_variant,,ENST00000338081,;DCX,3_prime_UTR_variant,,ENST00000488120,;DCX,3_prime_UTR_variant,,ENST00000358070,;DCX,3_prime_UTR_variant,,ENST00000356915,;	1829	12	9	SUCCESS
PABPC5	140886	.	GRCh37	X	90692240	90692240	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV3-01	TCGA-G3-AAV3-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	220	58	222	1	ENST00000312600.3:c.*515T>A			ENST00000312600	NM_080832.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14460.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTTATTTG	NONE	.	.	.	.	.	ENSP00000308012	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000312600	Transcript	.	.	ENSG00000174740	13629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PABP5_HUMAN	PABPC5	HGNC	Q5JQF3_HUMAN,B4DM75_HUMAN	.	UPI0000087790	SNV	PABPC5,3_prime_UTR_variant,,ENST00000312600,;PABPC5,downstream_gene_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	1878	223	278	SUCCESS
FAM45A	0	.	GRCh37	10	120896349	120896349	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	49	103	252	0	ENST00000361432.2:c.*190G>T			ENST00000361432	NM_207009.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7609.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCGCTGATTAG	NONE	.	.	.	.	.	ENSP00000354688	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361432	Transcript	.	.	ENSG00000119979	31793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA45A_HUMAN	FAM45A	HGNC	.	.	UPI0000071DBA	SNV	FAM45A,3_prime_UTR_variant,,ENST00000361432,;SFXN4,downstream_gene_variant,,ENST00000355697,;SFXN4,downstream_gene_variant,,ENST00000330036,;FAM45A,downstream_gene_variant,,ENST00000544016,;FAM45A,downstream_gene_variant,,ENST00000535029,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489936,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489988,;FAM45A,intron_variant,,ENST00000498549,;SFXN4,downstream_gene_variant,,ENST00000461438,;FAM45A,downstream_gene_variant,,ENST00000462327,;SFXN4,downstream_gene_variant,,ENST00000484960,;SFXN4,downstream_gene_variant,,ENST00000490417,;	1290	252	153	SUCCESS
FAM45A	0	.	GRCh37	10	120896350	120896350	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	105	251	0	ENST00000361432.2:c.*191A>T			ENST00000361432	NM_207009.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7609.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTGATTAGC	NONE	.	.	.	.	.	ENSP00000354688	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361432	Transcript	.	.	ENSG00000119979	31793	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA45A_HUMAN	FAM45A	HGNC	.	.	UPI0000071DBA	SNV	FAM45A,3_prime_UTR_variant,,ENST00000361432,;SFXN4,downstream_gene_variant,,ENST00000355697,;SFXN4,downstream_gene_variant,,ENST00000330036,;FAM45A,downstream_gene_variant,,ENST00000544016,;FAM45A,downstream_gene_variant,,ENST00000535029,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489936,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489988,;FAM45A,intron_variant,,ENST00000498549,;SFXN4,downstream_gene_variant,,ENST00000461438,;FAM45A,downstream_gene_variant,,ENST00000462327,;SFXN4,downstream_gene_variant,,ENST00000484960,;SFXN4,downstream_gene_variant,,ENST00000490417,;	1291	251	153	SUCCESS
ITPRIPL2	162073	.	GRCh37	16	19132079	19132079	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs527763797	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	14	39	0	ENST00000381440.3:c.*4688C>T			ENST00000381440	NM_001034841.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS32395.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCACCGCGGC	NONE	byCluster|by1000G	.	.	T:0	.	ENSP00000370849	T:0.001	1/1	.	.	.	.	.	.	.	.	rs527763797	1/1	PASS	ENST00000381440	Transcript	.	T:0.0002	ENSG00000205730	27257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	IPIL2_HUMAN	ITPRIPL2	HGNC	.	.	UPI000023760C	SNV	ITPRIPL2,3_prime_UTR_variant,,ENST00000381440,;ITPRIPL2,downstream_gene_variant,,ENST00000566735,;RP11-626G11.3,non_coding_transcript_exon_variant,,ENST00000567236,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;	6826	39	34	SUCCESS
CLDN9	9080	.	GRCh37	16	3064490	3064490	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	62	42	155	0	ENST00000445369.2:c.*473A>G			ENST00000445369	NM_020982.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10487.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAAAGAGCA	NONE	.	.	.	.	.	ENSP00000398017	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000445369	Transcript	.	.	ENSG00000213937	2051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD9_HUMAN	CLDN9	HGNC	.	.	UPI0000035DA5	SNV	CLDN9,3_prime_UTR_variant,,ENST00000445369,;TNFRSF12A,upstream_gene_variant,,ENST00000573001,;CLDN6,downstream_gene_variant,,ENST00000572154,;CLDN6,downstream_gene_variant,,ENST00000396925,;CLDN6,downstream_gene_variant,,ENST00000328796,;	2034	155	104	SUCCESS
ZNF493	284443	.	GRCh37	19	21608178	21608178	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	56	84	0	ENST00000355504.4:c.*392G>T			ENST00000355504	NM_175910.6			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42536.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAAAGCTTTT	NONE	.	.	.	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	SNV	ZNF493,3_prime_UTR_variant,,ENST00000355504,;ZNF493,3_prime_UTR_variant,,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	2826	84	117	SUCCESS
SPACA4	171169	.	GRCh37	19	49110937	49110937	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	20	0	ENST00000321762.1:c.*327A>G			ENST00000321762	NM_133498.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12725.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATATATATAT	NONE	.	.	.	.	.	ENSP00000312774	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000321762	Transcript	.	.	ENSG00000177202	16441	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SACA4_HUMAN	SPACA4	HGNC	.	.	UPI000000DBD9	SNV	SPACA4,3_prime_UTR_variant,,ENST00000321762,;FAM83E,intron_variant,,ENST00000263266,;FAM83E,downstream_gene_variant,,ENST00000593772,;	938	21	19	SUCCESS
SIGLEC6	946	.	GRCh37	19	52023258	52023258	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	33	0	ENST00000425629.3:c.*78C>A			ENST00000425629	NM_001245.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12834.3	.	MUTECT|MUSE	.	ACATTGCTGTG	NONE	.	.	.	.	.	ENSP00000401502	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000425629	Transcript	.	.	ENSG00000105492	10875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SIGL6_HUMAN	SIGLEC6	HGNC	.	.	UPI0000223FFD	SNV	SIGLEC6,3_prime_UTR_variant,,ENST00000425629,;SIGLEC6,3_prime_UTR_variant,,ENST00000436458,;SIGLEC6,3_prime_UTR_variant,,ENST00000391797,;SIGLEC6,3_prime_UTR_variant,,ENST00000343300,;SIGLEC6,3_prime_UTR_variant,,ENST00000359982,;SIGLEC6,3_prime_UTR_variant,,ENST00000346477,;CTD-3073N11.9,non_coding_transcript_exon_variant,,ENST00000598220,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000474054,;	1595	33	46	SUCCESS
OSCAR	126014	.	GRCh37	19	54598252	54598252	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	21	0	ENST00000359649.4:c.*691C>A			ENST00000359649	NM_206818.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12876.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATTCGAACCC	NONE	.	.	.	.	.	ENSP00000352671	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,3_prime_UTR_variant,,ENST00000284648,;OSCAR,3_prime_UTR_variant,,ENST00000351806,;OSCAR,3_prime_UTR_variant,,ENST00000356532,;OSCAR,3_prime_UTR_variant,,ENST00000359649,;OSCAR,3_prime_UTR_variant,,ENST00000391761,;OSCAR,3_prime_UTR_variant,,ENST00000358375,;OSCAR,downstream_gene_variant,,ENST00000391760,;	1575	21	14	SUCCESS
FMO4	2329	.	GRCh37	1	171311094	171311094	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	13	0	ENST00000367749.3:c.*116C>A			ENST00000367749	NM_002022.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1295.1	.	RADIA|MUTECT|MUSE	.	GTCATCTCCTA	NONE	.	.	.	.	.	ENSP00000356723	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000367749	Transcript	.	.	ENSG00000076258	3772	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FMO4_HUMAN	FMO4	HGNC	.	.	UPI000013C52B	SNV	FMO4,3_prime_UTR_variant,,ENST00000367749,;FMO4,non_coding_transcript_exon_variant,,ENST00000480136,;FMO4,downstream_gene_variant,,ENST00000475780,;TOP1P1,downstream_gene_variant,,ENST00000599419,;RP4-798A17.5,upstream_gene_variant,,ENST00000450334,;	2123	13	13	SUCCESS
PAX7	5081	.	GRCh37	1	19071524	19071524	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	3	44	0	ENST00000420770.2:c.*101G>T			ENST00000420770	NM_001135254.1			0	.	.	.	.	.	T	.	protein_coding	.	CCDS44074.1	.	MUTECT|MUSE	.	AGGAGGCCAGG	NONE	.	.	.	.	.	ENSP00000403389	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000420770	Transcript	.	.	ENSG00000009709	8621	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAX7_HUMAN	PAX7	HGNC	.	.	UPI0000E1E6AE	SNV	PAX7,3_prime_UTR_variant,,ENST00000420770,;	1702	45	42	SUCCESS
HEATR1	55127	.	GRCh37	1	236714176	236714176	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	45	29	78	0	ENST00000366582.3:c.*26A>G			ENST00000366582	NM_018072.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31066.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAGTAGAGT	NONE	.	.	.	.	.	ENSP00000355541	.	45/45	.	.	.	.	.	.	.	.	.	45/45	PASS	ENST00000366582	Transcript	.	.	ENSG00000119285	25517	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEAT1_HUMAN	HEATR1	HGNC	Q6P664_HUMAN	.	UPI000013D4D4	SNV	HEATR1,3_prime_UTR_variant,,ENST00000366581,;LGALS8,3_prime_UTR_variant,,ENST00000366584,;LGALS8,3_prime_UTR_variant,,ENST00000526589,;HEATR1,3_prime_UTR_variant,,ENST00000366582,;LGALS8,downstream_gene_variant,,ENST00000323938,;LGALS8,downstream_gene_variant,,ENST00000526634,;LGALS8,downstream_gene_variant,,ENST00000527974,;LGALS8,downstream_gene_variant,,ENST00000416919,;LGALS8,downstream_gene_variant,,ENST00000525042,;LGALS8,downstream_gene_variant,,ENST00000352231,;LGALS8,downstream_gene_variant,,ENST00000341872,;LGALS8,downstream_gene_variant,,ENST00000450372,;RP11-385F5.4,upstream_gene_variant,,ENST00000433131,;LGALS8,downstream_gene_variant,,ENST00000528259,;LGALS8,downstream_gene_variant,,ENST00000489586,;	6576	78	75	SUCCESS
POMGNT1	55624	.	GRCh37	1	46654596	46654596	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs762671303	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	34	96	0	ENST00000371984.3:c.*346C>A			ENST00000371984	NM_017739.3	681		0	.	.	.	.	.	T	P/Q	protein_coding	YES	CCDS57995.1	2042	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGGCCTG	NONE	.	.	.	.	.	ENSP00000361060	.	23/23	.	.	.	.	.	.	.	.	rs762671303	23/23	PASS	ENST00000371992	Transcript	.	.	ENSG00000085998	19139	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.006)	.	.	.	.	POMGNT1	HGNC	Q5VST3_HUMAN	.	UPI0000458AF4	SNV	POMGNT1,missense_variant,p.Pro681Gln,ENST00000371986,;POMGNT1,missense_variant,p.Pro681Gln,ENST00000371992,;POMGNT1,3_prime_UTR_variant,,ENST00000535522,;POMGNT1,3_prime_UTR_variant,,ENST00000396420,;POMGNT1,3_prime_UTR_variant,,ENST00000371984,;TSPAN1,downstream_gene_variant,,ENST00000372003,;POMGNT1,non_coding_transcript_exon_variant,,ENST00000475642,;TSPAN1,downstream_gene_variant,,ENST00000469330,;POMGNT1,downstream_gene_variant,,ENST00000477114,;TSPAN1,downstream_gene_variant,,ENST00000482928,;TSPAN1,downstream_gene_variant,,ENST00000472170,;TSPAN1,downstream_gene_variant,,ENST00000470318,;TSPAN1,downstream_gene_variant,,ENST00000498443,;POMGNT1,downstream_gene_variant,,ENST00000480972,;POMGNT1,downstream_gene_variant,,ENST00000485714,;TSPAN1,downstream_gene_variant,,ENST00000482143,;TSPAN1,downstream_gene_variant,,ENST00000464786,;TSPAN1,downstream_gene_variant,,ENST00000475163,;POMGNT1,downstream_gene_variant,,ENST00000463030,;	2693	96	87	SUCCESS
RAB6C	84084	.	GRCh37	2	130739420	130739420	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	207	86	319	0	ENST00000410061.2:c.*967T>A			ENST00000410061	NM_032144.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46408.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTTTGCTCA	NONE	.	.	.	.	.	ENSP00000387307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000410061	Transcript	.	.	ENSG00000222014	16525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB6C_HUMAN	RAB6C	HGNC	.	.	UPI00001AF8C6	SNV	RAB6C,3_prime_UTR_variant,,ENST00000410061,;RAB6C-AS1,upstream_gene_variant,,ENST00000412425,;	2186	319	294	SUCCESS
RAB6C	84084	.	GRCh37	2	130739421	130739421	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	205	86	315	0	ENST00000410061.2:c.*968G>A			ENST00000410061	NM_032144.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTGCTCAG	NONE	.	.	.	.	.	ENSP00000387307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000410061	Transcript	.	.	ENSG00000222014	16525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB6C_HUMAN	RAB6C	HGNC	.	.	UPI00001AF8C6	SNV	RAB6C,3_prime_UTR_variant,,ENST00000410061,;RAB6C-AS1,upstream_gene_variant,,ENST00000412425,;	2187	315	291	SUCCESS
NXPH2	11249	.	GRCh37	2	139428462	139428462	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	24	0	ENST00000272641.3:c.*30C>T			ENST00000272641	NM_007226.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46421.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATATGTATCC	NONE	.	.	.	.	.	ENSP00000272641	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000272641	Transcript	.	.	ENSG00000144227	8076	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NXPH2_HUMAN	NXPH2	HGNC	.	.	UPI000023FCD4	SNV	NXPH2,3_prime_UTR_variant,,ENST00000272641,;	932	24	29	SUCCESS
USP19	10869	.	GRCh37	3	49146197	49146197	+	3_prime_UTR_variant	3'UTR	DEL	G	G	-	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	15	16	0	ENST00000398888.2:c.*194del			ENST00000398888	NM_006677.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS56254.1	.	INDELOCATOR|VARSCANI	.	GCAGCAGGATGA	NONE	.	.	.	.	.	ENSP00000401197	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000434032	Transcript	.	.	ENSG00000172046	12617	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBP19_HUMAN	USP19	HGNC	.	.	UPI000198CAB3	deletion	USP19,3_prime_UTR_variant,,ENST00000398892,;USP19,3_prime_UTR_variant,,ENST00000434032,;USP19,3_prime_UTR_variant,,ENST00000398888,;USP19,intron_variant,,ENST00000417901,;USP19,intron_variant,,ENST00000453664,;USP19,intron_variant,,ENST00000398898,;USP19,intron_variant,,ENST00000398896,;QARS,upstream_gene_variant,,ENST00000420147,;QARS,upstream_gene_variant,,ENST00000417025,;QARS,upstream_gene_variant,,ENST00000452739,;QARS,upstream_gene_variant,,ENST00000306125,;QARS,upstream_gene_variant,,ENST00000414533,;QARS,upstream_gene_variant,,ENST00000470619,;USP19,downstream_gene_variant,,ENST00000483667,;QARS,upstream_gene_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000418549,;QARS,upstream_gene_variant,,ENST00000464962,;QARS,upstream_gene_variant,,ENST00000482261,;QARS,upstream_gene_variant,,ENST00000494838,;QARS,upstream_gene_variant,,ENST00000482438,;QARS,upstream_gene_variant,,ENST00000430182,;	4666	16	26	SUCCESS
MOCS1	4337	.	GRCh37	6	39902191	39902191	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs369987057	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	30	51	0				ENST00000340692				0	A:0	.	.	.	.	A	.	protein_coding	.	CCDS43460.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTTCGGGAGC	NONE	byCluster	.	.	.	A:0.0001	ENSP00000362284	.	1/11	.	.	.	.	.	.	.	.	rs369987057	1/11	PASS	ENST00000373188	Transcript	.	.	ENSG00000124615	7190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOCS1_HUMAN	MOCS1	HGNC	Q9NP27_HUMAN	.	UPI000013DA31	SNV	MOCS1,5_prime_UTR_variant,,ENST00000373188,;MOCS1,5_prime_UTR_variant,,ENST00000308559,;MOCS1,5_prime_UTR_variant,,ENST00000373195,;MOCS1,upstream_gene_variant,,ENST00000340692,;MOCS1,5_prime_UTR_variant,,ENST00000487924,;MOCS1,upstream_gene_variant,,ENST00000473742,;MOCS1,upstream_gene_variant,,ENST00000373181,;	100	51	80	SUCCESS
TOPORS	10210	.	GRCh37	9	32541266	32541266	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	16	34	0	ENST00000360538.2:c.*119A>T			ENST00000360538	NM_005802.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6527.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATATTGT	NONE	.	.	.	.	.	ENSP00000353735	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000360538	Transcript	.	.	ENSG00000197579	21653	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TOPRS_HUMAN	TOPORS	HGNC	.	.	UPI000006F223	SNV	TOPORS,3_prime_UTR_variant,,ENST00000360538,;TOPORS,3_prime_UTR_variant,,ENST00000379858,;	3374	34	29	SUCCESS
S1PR3	1903	.	GRCh37	9	91618823	91618823	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	3	94	0	ENST00000358157.2:c.*1571T>C			ENST00000358157	NM_005226.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6680.1	.	MUTECT|MUSE	.	GTAACTCACCT	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	7403	94	61	SUCCESS
TRMT2B	79979	.	GRCh37	X	100265367	100265367	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV4-01	TCGA-G3-AAV4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	7	35	0	ENST00000372935.1:c.*203G>T			ENST00000372935	NM_001167970.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14477.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGACACTCCAG	NONE	.	.	.	.	.	ENSP00000362027	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000372936	Transcript	.	.	ENSG00000188917	25748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TRM2_HUMAN	TRMT2B	HGNC	.	.	UPI0000070468	SNV	TRMT2B,3_prime_UTR_variant,,ENST00000338687,;TRMT2B,3_prime_UTR_variant,,ENST00000545398,;TRMT2B,3_prime_UTR_variant,,ENST00000372935,;TRMT2B,3_prime_UTR_variant,,ENST00000372936,;TRMT2B,3_prime_UTR_variant,,ENST00000372939,;TRMT2B,downstream_gene_variant,,ENST00000372931,;	2491	35	21	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	32	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|SOMATICSNIPER|MUSE	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	32	12	SUCCESS
FEN1	2237	.	GRCh37	11	61564454	61564454	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	55	121	0	ENST00000305885.2:c.*478G>A			ENST00000305885	NM_004111.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8010.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACTGCTGAG	NONE	.	.	.	.	.	ENSP00000305480	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305885	Transcript	.	.	ENSG00000168496	3650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FEN1_HUMAN	FEN1	HGNC	Q6FHX6_HUMAN,F5H1Y3_HUMAN,B4DWZ4_HUMAN	.	UPI0000050E0F	SNV	FEN1,3_prime_UTR_variant,,ENST00000305885,;FEN1,3_prime_UTR_variant,,ENST00000535307,;FADS2,intron_variant,,ENST00000574708,;FEN1,downstream_gene_variant,,ENST00000535723,;TMEM258,upstream_gene_variant,,ENST00000537328,;FADS1,downstream_gene_variant,,ENST00000350997,;TMEM258,upstream_gene_variant,,ENST00000543510,;MIR611,upstream_gene_variant,,ENST00000384869,;TMEM258,upstream_gene_variant,,ENST00000545210,;TMEM258,upstream_gene_variant,,ENST00000540434,;TMEM258,upstream_gene_variant,,ENST00000535297,;TMEM258,upstream_gene_variant,,ENST00000541893,;TMEM258,upstream_gene_variant,,ENST00000257262,;	2034	121	131	SUCCESS
RN7SL319P	106479339	.	GRCh37	15	76075352	76075352	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs553476426	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	65	129	0				ENST00000480656				0	.	T:0	.	T:0.0014	.	T	.	misc_RNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTCCGAGAG	NONE	byFrequency|by1000G	2101	.	T:0	.	.	T:0	.	.	.	.	.	.	.	.	.	rs553476426	.	PASS	ENST00000480656	Transcript	.	T:0.0004	ENSG00000241807	46335	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	.	RN7SL319P	HGNC	.	.	.	SNV	RN7SL319P,upstream_gene_variant,,ENST00000480656,;RP11-24M17.5,non_coding_transcript_exon_variant,,ENST00000395215,;RP11-24M17.5,non_coding_transcript_exon_variant,,ENST00000566174,;	.	129	139	SUCCESS
PRDM7	11105	.	GRCh37	16	90124562	90124562	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	56	44	91	0	ENST00000449207.2:c.*135A>T			ENST00000449207	NM_001098173.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45557.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTGTGTTCC	NONE	.	.	.	.	.	ENSP00000396732	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000449207	Transcript	.	.	ENSG00000126856	9351	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRDM7_HUMAN	PRDM7	HGNC	.	.	UPI00015294E9	SNV	PRDM7,3_prime_UTR_variant,,ENST00000449207,;PRDM7,3_prime_UTR_variant,,ENST00000325921,;PRDM7,3_prime_UTR_variant,,ENST00000407825,;PRDM7,downstream_gene_variant,,ENST00000568473,;PRDM7,downstream_gene_variant,,ENST00000564210,;	1634	91	100	SUCCESS
ZNF101	94039	.	GRCh37	19	19791186	19791186	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000318110.5:c.*77G>T			ENST00000318110				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32971.1	.	MUTECT|MUSE	.	TTTGGGAGGCT	NONE	.	.	.	.	.	ENSP00000468049	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000592502	Transcript	.	.	ENSG00000181896	12881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN101_HUMAN	ZNF101	HGNC	Q96F93_HUMAN,Q0VDG9_HUMAN,K7ENV8_HUMAN	.	UPI0000074138	SNV	ZNF101,3_prime_UTR_variant,,ENST00000592502,;ZNF101,downstream_gene_variant,,ENST00000415784,;ZNF101,downstream_gene_variant,,ENST00000541458,;ZNF101,downstream_gene_variant,,ENST00000444249,;ZNF101,upstream_gene_variant,,ENST00000586745,;ZNF101,3_prime_UTR_variant,,ENST00000318110,;ZNF101,3_prime_UTR_variant,,ENST00000585565,;ZNF101,downstream_gene_variant,,ENST00000415440,;	1498	8	11	SUCCESS
POGLUT1	56983	.	GRCh37	3	119211398	119211398	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	26	0	ENST00000295588.4:c.*113A>G			ENST00000295588	NM_152305.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2988.1	.	MUTECT|MUSE	.	GCCAAATACCT	NONE	.	.	.	.	.	ENSP00000295588	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000295588	Transcript	.	.	ENSG00000163389	22954	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PGLT1_HUMAN	POGLUT1	HGNC	B4DJ97_HUMAN	.	UPI000003B0C3	SNV	POGLUT1,3_prime_UTR_variant,,ENST00000295588,;POGLUT1,non_coding_transcript_exon_variant,,ENST00000473648,;POGLUT1,downstream_gene_variant,,ENST00000486607,;POGLUT1,downstream_gene_variant,,ENST00000497447,;	1376	26	38	SUCCESS
SNX25	83891	.	GRCh37	4	186284811	186284811	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	10	0	ENST00000264694.8:c.*192C>A			ENST00000264694	NM_031953.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34116.1	.	MUTECT|MUSE	.	AACTTCTATTG	NONE	.	.	.	.	.	ENSP00000426255	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000504273	Transcript	.	.	ENSG00000109762	21883	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SNX25_HUMAN	SNX25	HGNC	B3KTI8_HUMAN	.	UPI000020B7BB	SNV	SNX25,3_prime_UTR_variant,,ENST00000264694,;SNX25,3_prime_UTR_variant,,ENST00000504273,;LRP2BP,downstream_gene_variant,,ENST00000328559,;LRP2BP,downstream_gene_variant,,ENST00000362004,;LRP2BP,downstream_gene_variant,,ENST00000510776,;LRP2BP,downstream_gene_variant,,ENST00000505916,;SNX25,downstream_gene_variant,,ENST00000512853,;SNX25,intron_variant,,ENST00000504959,;SNX25,downstream_gene_variant,,ENST00000513433,;	3009	10	9	SUCCESS
CCNI	10983	.	GRCh37	4	77969331	77969331	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	20	39	0	ENST00000237654.4:c.*41T>C			ENST00000237654	NM_006835.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3580.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTAGTCTA	NONE	.	.	.	.	.	ENSP00000237654	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000237654	Transcript	.	.	ENSG00000118816	1595	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNI_HUMAN	CCNI	HGNC	D6RH01_HUMAN,D6RG12_HUMAN	.	UPI000000D8E4	SNV	CCNI,3_prime_UTR_variant,,ENST00000537948,;CCNI,3_prime_UTR_variant,,ENST00000237654,;CCNI,3_prime_UTR_variant,,ENST00000515468,;	1752	39	47	SUCCESS
GJA1	2697	.	GRCh37	6	121769462	121769462	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1179906191	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	52	105	0	ENST00000282561.3:c.*320G>T			ENST00000282561	NM_000165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5123.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAATGGTTCT	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;	1626	106	126	SUCCESS
PNPLA1	285848	.	GRCh37	6	36275578	36275578	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	43	66	0	ENST00000394571.2:c.*85G>A			ENST00000394571	NM_001145717.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54997.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGTGTAAGG	NONE	.	.	.	.	.	ENSP00000378072	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000394571	Transcript	.	.	ENSG00000180316	21246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLPL1_HUMAN	PNPLA1	HGNC	B8XXQ3_HUMAN	.	UPI000189560E	SNV	PNPLA1,3_prime_UTR_variant,,ENST00000394571,;PNPLA1,3_prime_UTR_variant,,ENST00000388715,;PNPLA1,downstream_gene_variant,,ENST00000312917,;PNPLA1,downstream_gene_variant,,ENST00000457797,;	1684	66	85	SUCCESS
COL12A1	1303	.	GRCh37	6	75795028	75795028	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1382198401	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	94	54	129	1	ENST00000322507.8:c.*1235G>A			ENST00000322507	NM_004370.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43482.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGGCACGATGA	NONE	.	.	.	.	.	ENSP00000325146	.	66/66	.	.	.	.	.	.	.	.	.	66/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Val717Met,ENST00000425443,;COL12A1,3_prime_UTR_variant,,ENST00000322507,;COL12A1,downstream_gene_variant,,ENST00000416123,;COL12A1,downstream_gene_variant,,ENST00000483888,;COL12A1,downstream_gene_variant,,ENST00000345356,;COL12A1,downstream_gene_variant,,ENST00000511023,;	10737	130	148	SUCCESS
SDK1	221935	.	GRCh37	7	4308133	4308133	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	15	11	0	ENST00000404826.2:c.*3117G>T			ENST00000404826	NM_152744.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34590.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGGAGAG	NONE	.	.	.	.	.	ENSP00000385899	.	45/45	.	.	.	.	.	.	.	.	.	45/45	PASS	ENST00000404826	Transcript	.	.	ENSG00000146555	19307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SDK1_HUMAN	SDK1	HGNC	.	.	UPI0000DBEEC4	SNV	SDK1,3_prime_UTR_variant,,ENST00000404826,;SDK1,downstream_gene_variant,,ENST00000389531,;SDK1,downstream_gene_variant,,ENST00000466611,;SDK1,intron_variant,,ENST00000476701,;	9898	11	26	SUCCESS
PPAPDC2	0	.	GRCh37	9	4665139	4665139	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	32	106	1	ENST00000381883.2:c.*1876T>G			ENST00000381883	NM_203453.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34981.1	.	RADIA|MUTECT|MUSE	.	GATCATTTCAC	NONE	.	.	.	.	.	ENSP00000371307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381883	Transcript	.	.	ENSG00000205808	23682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPAC2_HUMAN	PPAPDC2	HGNC	.	.	UPI00000529F4	SNV	PPAPDC2,3_prime_UTR_variant,,ENST00000381883,;SPATA6L,intron_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000381890,;SPATA6L,intron_variant,,ENST00000454239,;SPATA6L,intron_variant,,ENST00000485981,;SPATA6L,intron_variant,,ENST00000497383,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,intron_variant,,ENST00000496798,;SPATA6L,intron_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000461761,;SPATA6L,intron_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000471669,;SPATA6L,intron_variant,,ENST00000406861,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,intron_variant,,ENST00000486047,;	2842	108	111	SUCCESS
PPAPDC2	0	.	GRCh37	9	4665152	4665152	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV5-01	TCGA-G3-AAV5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	32	93	1	ENST00000381883.2:c.*1889T>G			ENST00000381883	NM_203453.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34981.1	.	RADIA|MUTECT|MUSE	.	GATGTTTTTGA	NONE	.	.	.	.	.	ENSP00000371307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000381883	Transcript	.	.	ENSG00000205808	23682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PPAC2_HUMAN	PPAPDC2	HGNC	.	.	UPI00000529F4	SNV	PPAPDC2,3_prime_UTR_variant,,ENST00000381883,;SPATA6L,intron_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,;SPATA6L,intron_variant,,ENST00000381890,;SPATA6L,intron_variant,,ENST00000454239,;SPATA6L,intron_variant,,ENST00000485981,;SPATA6L,intron_variant,,ENST00000497383,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,intron_variant,,ENST00000496798,;SPATA6L,intron_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000461761,;SPATA6L,intron_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000471669,;SPATA6L,intron_variant,,ENST00000406861,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,intron_variant,,ENST00000486047,;	2855	94	104	SUCCESS
ADK	132	.	GRCh37	10	75910967	75910967	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	110	32	102	0				ENST00000286621	NM_006721.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7343.1	.	RADIA|MUTECT|MUSE	.	TGCGAAGAGGG	NONE	.	20	.	.	.	ENSP00000286621	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000286621	Transcript	1	.	ENSG00000156110	257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ADK_HUMAN	ADK	HGNC	Q9HB33_HUMAN	.	UPI00001255EA	SNV	ADK,5_prime_UTR_variant,,ENST00000539909,;ADK,upstream_gene_variant,,ENST00000286621,;AP3M1,upstream_gene_variant,,ENST00000355264,;AP3M1,upstream_gene_variant,,ENST00000372745,;AP3M1,upstream_gene_variant,,ENST00000487653,;ADK,upstream_gene_variant,,ENST00000478611,;	.	102	142	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79588327	79588327	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1473770510	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	29	81	0	ENST00000421388.2:c.*1093C>A			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAACCCTTTT	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	3170	81	42	SUCCESS
CYTH1	9267	.	GRCh37	17	76671943	76671943	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	119	12	86	0	ENST00000361101.4:c.*230T>C			ENST00000361101	NM_017456.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42392.2	.	MUTECT|MUSE|VARSCANS	.	GAGAGAGGAAG	NONE	.	.	.	.	.	ENSP00000354398	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000361101	Transcript	.	.	ENSG00000108669	9501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CYH1_HUMAN	CYTH1	HGNC	K7ENH6_HUMAN,K7EKA2_HUMAN,B7Z1T4_HUMAN	.	UPI000000009A	SNV	CYTH1,3_prime_UTR_variant,,ENST00000361101,;CYTH1,3_prime_UTR_variant,,ENST00000589296,;CYTH1,3_prime_UTR_variant,,ENST00000589297,;CYTH1,3_prime_UTR_variant,,ENST00000446868,;CYTH1,3_prime_UTR_variant,,ENST00000591455,;CYTH1,3_prime_UTR_variant,,ENST00000585509,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586175,;CYTH1,downstream_gene_variant,,ENST00000590775,;CYTH1,3_prime_UTR_variant,,ENST00000591574,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586299,;CYTH1,non_coding_transcript_exon_variant,,ENST00000586430,;	1498	86	131	SUCCESS
ZNF71	58491	.	GRCh37	19	57134511	57134511	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	81	23	88	0	ENST00000328070.6:c.*386T>A			ENST00000328070	NM_021216.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12947.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATCTCCC	NONE	.	.	.	.	.	ENSP00000328245	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000328070	Transcript	.	.	ENSG00000197951	13141	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF71_HUMAN	ZNF71	HGNC	M0R0C0_HUMAN	.	UPI00000437FA	SNV	ZNF71,3_prime_UTR_variant,,ENST00000328070,;ZNF71,downstream_gene_variant,,ENST00000599599,;	2090	88	105	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125671927	125671927	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	214	17	184	0	ENST00000431078.1:c.*62T>C			ENST00000431078	NM_130773.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46401.1	.	MUTECT|MUSE	.	TCTTCTCTCCT	NONE	.	.	.	.	.	ENSP00000399013	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,3_prime_UTR_variant,,ENST00000431078,;	4347	184	231	SUCCESS
PCDHB12	56124	.	GRCh37	5	140591502	140591502	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	107	33	190	0	ENST00000239450.2:c.*635T>C			ENST00000239450	NM_018932.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4254.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAAGTTTCTG	NONE	.	.	.	.	.	ENSP00000239450	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239450	Transcript	.	.	ENSG00000120328	8683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBC_HUMAN	PCDHB12	HGNC	B4DDU1_HUMAN	.	UPI000000DAFD	SNV	PCDHB12,3_prime_UTR_variant,,ENST00000239450,;PCDHB12,downstream_gene_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,;	3212	190	140	SUCCESS
PAQR8	85315	.	GRCh37	6	52271215	52271215	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	129	40	160	0	ENST00000360726.3:c.*2139C>A			ENST00000360726				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4941.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGAGCAATGA	NONE	.	.	.	.	.	ENSP00000406197	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000442253	Transcript	.	.	ENSG00000170915	15708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPRB_HUMAN	PAQR8	HGNC	D6RCM7_HUMAN	.	UPI0000073877	SNV	PAQR8,3_prime_UTR_variant,,ENST00000442253,;PAQR8,3_prime_UTR_variant,,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;	3378	160	170	SUCCESS
LFNG	3955	.	GRCh37	7	2566926	2566926	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs947604312	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	4	18	0	ENST00000222725.5:c.*80G>A			ENST00000222725	NM_001040167.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34587.1	.	MUTECT|MUSE	.	GCCTCGGCATT	NONE	.	.	.	.	.	ENSP00000222725	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000222725	Transcript	.	.	ENSG00000106003	6560	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LFNG_HUMAN	LFNG	HGNC	.	.	UPI000012E5D5	SNV	LFNG,3_prime_UTR_variant,,ENST00000402506,;LFNG,3_prime_UTR_variant,,ENST00000402045,;LFNG,3_prime_UTR_variant,,ENST00000222725,;LFNG,3_prime_UTR_variant,,ENST00000338732,;LFNG,intron_variant,,ENST00000359574,;MIR4648,downstream_gene_variant,,ENST00000580107,;LFNG,downstream_gene_variant,,ENST00000493850,;	1240	18	20	SUCCESS
ZNF117	51351	.	GRCh37	7	64438319	64438319	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1255086969	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	30	1	ENST00000282869.6:c.*178C>A			ENST00000282869	NM_015852.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43593.1	.	MUTECT|MUSE	.	AGAAAGGGTTG	NONE	.	.	.	.	.	ENSP00000282869	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000282869	Transcript	.	.	ENSG00000152926	12897	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN117_HUMAN	ZNF117	HGNC	.	.	UPI000049E07A	SNV	ZNF117,3_prime_UTR_variant,,ENST00000282869,;ZNF117,downstream_gene_variant,,ENST00000487644,;	2915	31	30	SUCCESS
TRIM32	22954	.	GRCh37	9	119463136	119463136	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	26	66	0	ENST00000373983.2:c.*1153G>C			ENST00000373983				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6817.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGAGTGTAG	NONE	.	.	.	.	.	ENSP00000408292	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000450136	Transcript	.	.	ENSG00000119401	16380	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI32_HUMAN	TRIM32	HGNC	Q5JVY0_HUMAN	.	UPI000012CDB9	SNV	TRIM32,3_prime_UTR_variant,,ENST00000373983,;TRIM32,3_prime_UTR_variant,,ENST00000450136,;ASTN2,intron_variant,,ENST00000373996,;ASTN2,intron_variant,,ENST00000373986,;ASTN2,intron_variant,,ENST00000361209,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000361477,;TRIM32,downstream_gene_variant,,ENST00000411410,;	3276	66	62	SUCCESS
SLITRK2	84631	.	GRCh37	X	144909207	144909207	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	249	58	252	0				ENST00000370490		4		0	.	.	.	.	.	G	R	protein_coding	YES	CCDS14681.1	12	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGACTATT	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,synonymous_variant,p.%3D,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	280	252	307	SUCCESS
WDR45	11152	.	GRCh37	X	48932251	48932251	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-G3-AAV6-01	TCGA-G3-AAV6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	5	24	0	ENST00000376372.3:c.*211G>A			ENST00000376372	NM_001029896.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14318.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTTCCTGGG	NONE	.	48	.	.	.	ENSP00000348848	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356463	Transcript	.	.	ENSG00000196998	28912	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WIPI4_HUMAN	WDR45	HGNC	C9J7Q8_HUMAN	.	UPI000035B01F	SNV	WDR45,3_prime_UTR_variant,,ENST00000376372,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000553851,;WDR45,downstream_gene_variant,,ENST00000367375,;WDR45,downstream_gene_variant,,ENST00000419567,;WDR45,downstream_gene_variant,,ENST00000475977,;WDR45,downstream_gene_variant,,ENST00000322995,;WDR45,downstream_gene_variant,,ENST00000486337,;CCDC120,downstream_gene_variant,,ENST00000376396,;WDR45,downstream_gene_variant,,ENST00000476728,;CCDC120,downstream_gene_variant,,ENST00000422185,;WDR45,downstream_gene_variant,,ENST00000396681,;WDR45,downstream_gene_variant,,ENST00000473974,;WDR45,downstream_gene_variant,,ENST00000465382,;PRAF2,upstream_gene_variant,,ENST00000376390,;WDR45,downstream_gene_variant,,ENST00000485908,;WDR45,downstream_gene_variant,,ENST00000356463,;WDR45,downstream_gene_variant,,ENST00000376368,;WDR45,downstream_gene_variant,,ENST00000474053,;WDR45,downstream_gene_variant,,ENST00000423215,;WDR45,downstream_gene_variant,,ENST00000471338,;PRAF2,upstream_gene_variant,,ENST00000376386,;WDR45,downstream_gene_variant,,ENST00000475880,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,downstream_gene_variant,,ENST00000465431,;WDR45,non_coding_transcript_exon_variant,,ENST00000465806,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,downstream_gene_variant,,ENST00000480412,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,downstream_gene_variant,,ENST00000433252,;CCDC120,downstream_gene_variant,,ENST00000603745,;WDR45,downstream_gene_variant,,ENST00000472654,;	.	24	25	SUCCESS
TSPAN14	81619	.	GRCh37	10	82280364	82280364	+	downstream_gene_variant	3'Flank	SNP	A	A	G	rs181597650	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	32	110	0				ENST00000372156				0	G:0.0166	G:0.0151	.	G:0.0014	.	G	.	protein_coding	YES	CCDS7369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGATCTTG	NONE	byFrequency|byCluster|by1000G	.	.	G:0	G:0	ENSP00000396270	G:0	9/9	.	.	.	.	.	.	.	.	rs181597650	9/9	common_in_exac	ENST00000429989	Transcript	.	G:0.0042	ENSG00000108219	23303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	TSN14_HUMAN	TSPAN14	HGNC	.	.	UPI000004ACAE	SNV	TSPAN14,3_prime_UTR_variant,,ENST00000429989,;TSPAN14,3_prime_UTR_variant,,ENST00000372164,;TSPAN14,downstream_gene_variant,,ENST00000372156,;TSPAN14,downstream_gene_variant,,ENST00000372157,;TSPAN14,downstream_gene_variant,,ENST00000481124,;TSPAN14,downstream_gene_variant,,ENST00000372158,;TSPAN14,downstream_gene_variant,,ENST00000341863,;TSPAN14,downstream_gene_variant,,ENST00000265450,;	3668	110	121	SUCCESS
MMP1	4312	.	GRCh37	11	102660868	102660868	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	11	0	ENST00000315274.6:c.*275A>G			ENST00000315274	NM_002421.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8322.1	.	MUTECT|MUSE	.	TTGCATACTCT	NONE	.	.	.	.	.	ENSP00000322788	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000315274	Transcript	.	.	ENSG00000196611	7155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP1_HUMAN	MMP1	HGNC	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN	.	UPI00000422BA	SNV	MMP1,3_prime_UTR_variant,,ENST00000315274,;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,intron_variant,,ENST00000544704,;	1753	11	8	SUCCESS
CAT	847	.	GRCh37	11	34493186	34493186	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	rs368595989	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	11	0	ENST00000241052.4:c.*215del			ENST00000241052	NM_001752.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7891.1	.	INDELOCATOR|VARSCANI	.	TCATTTAAAAAA	NONE	.	.	.	.	.	ENSP00000241052	.	13/13	.	.	.	.	.	.	.	.	rs368595989	13/13	PASS	ENST00000241052	Transcript	.	.	ENSG00000121691	1516	9	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CATA_HUMAN	CAT	HGNC	Q8TAK2_HUMAN	.	UPI000002F090	deletion	CAT,3_prime_UTR_variant,,ENST00000241052,;CAT,non_coding_transcript_exon_variant,,ENST00000534710,;CAT,downstream_gene_variant,,ENST00000525707,;	1879	11	13	SUCCESS
NOP9	161424	.	GRCh37	14	24774309	24774309	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	26	101	0	ENST00000267425.3:c.*8G>T			ENST00000267425	NM_174913.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9624.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGATCTG	NONE	.	.	.	.	.	ENSP00000267425	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000267425	Transcript	.	.	ENSG00000196943	19826	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOP9_HUMAN	NOP9	HGNC	B3KVY3_HUMAN	.	UPI000000CBCF	SNV	NOP9,3_prime_UTR_variant,,ENST00000267425,;CIDEB,3_prime_UTR_variant,,ENST00000554411,;NOP9,3_prime_UTR_variant,,ENST00000396802,;NOP9,intron_variant,,ENST00000557362,;LTB4R2,upstream_gene_variant,,ENST00000527924,;CIDEB,downstream_gene_variant,,ENST00000556756,;LTB4R2,upstream_gene_variant,,ENST00000528054,;CIDEB,downstream_gene_variant,,ENST00000336557,;CIDEB,downstream_gene_variant,,ENST00000258807,;CIDEB,downstream_gene_variant,,ENST00000555471,;	2012	101	69	SUCCESS
EXD1	161829	.	GRCh37	15	41475927	41475927	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	14	0	ENST00000314992.5:c.*202T>G			ENST00000314992	NM_152596.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10072.1	.	MUTECT|MUSE	.	ATCAGAAATTA	NONE	.	.	.	.	.	ENSP00000321029	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000314992	Transcript	.	.	ENSG00000178997	28507	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	EXD1_HUMAN	EXD1	HGNC	.	.	UPI00001BBFD3	SNV	EXD1,3_prime_UTR_variant,,ENST00000314992,;EXD1,downstream_gene_variant,,ENST00000458580,;EXD1,non_coding_transcript_exon_variant,,ENST00000558881,;	1938	14	8	SUCCESS
PDE4A	5141	.	GRCh37	19	10578444	10578444	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	18	0	ENST00000380702.2:c.*147T>G			ENST00000380702				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45961.1	.	MUTECT|MUSE	.	TTTTCTTTTTT	NONE	.	.	.	.	.	ENSP00000270474	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000352831	Transcript	.	.	ENSG00000065989	8780	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDE4A_HUMAN	PDE4A	HGNC	Q86V67_HUMAN	.	UPI0000047003	SNV	PDE4A,3_prime_UTR_variant,,ENST00000352831,;PDE4A,3_prime_UTR_variant,,ENST00000344979,;PDE4A,3_prime_UTR_variant,,ENST00000380702,;PDE4A,downstream_gene_variant,,ENST00000293683,;PDE4A,downstream_gene_variant,,ENST00000592685,;PDE4A,downstream_gene_variant,,ENST00000440014,;PDE4A,downstream_gene_variant,,ENST00000589073,;PDE4A,downstream_gene_variant,,ENST00000590407,;	2918	18	14	SUCCESS
IGFN1	91156	.	GRCh37	1	201197666	201197666	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	12	47	0	ENST00000295591.8:c.*723T>C			ENST00000295591				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53455.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CGAGGTTTTGG	NONE	.	.	.	.	.	ENSP00000334714	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000335211	Transcript	.	.	ENSG00000163395	24607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IGFN1_HUMAN	IGFN1	HGNC	.	.	UPI0001B300F4	SNV	IGFN1,3_prime_UTR_variant,,ENST00000295591,;IGFN1,3_prime_UTR_variant,,ENST00000412892,;IGFN1,3_prime_UTR_variant,,ENST00000335211,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	11396	47	70	SUCCESS
RIMBP3B	440804	.	GRCh37	22	21743080	21743080	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	12	0	ENST00000434111.1:c.*13G>T			ENST00000434111	NM_001128635.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46668.1	.	RADIA|VARSCANS	.	TCCTTGCCCAG	NONE	.	.	.	.	.	ENSP00000407925	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000434111	Transcript	.	.	ENSG00000196934	33891	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIM3B_HUMAN	RIMBP3B	HGNC	.	.	UPI0000237732	SNV	RIMBP3B,3_prime_UTR_variant,,ENST00000434111,;SCARNA18,downstream_gene_variant,,ENST00000516505,;SCARNA17,downstream_gene_variant,,ENST00000516211,;RN7SKP63,upstream_gene_variant,,ENST00000363187,;	5418	12	18	SUCCESS
RIMBP3C	150221	.	GRCh37	22	21900333	21900333	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	58	25	71	0	ENST00000433039.1:c.*13G>T			ENST00000433039	NM_001128633.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46669.1	.	RADIA|VARSCANS	.	CTGGGCAAGGA	NONE	.	.	.	.	.	ENSP00000390630	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000433039	Transcript	.	.	ENSG00000183246	33892	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RIM3C_HUMAN	RIMBP3C	HGNC	J3KP16_HUMAN	.	UPI0000237947	SNV	RIMBP3C,3_prime_UTR_variant,,ENST00000433039,;RIMBP3C,3_prime_UTR_variant,,ENST00000331505,;UBE2L3,upstream_gene_variant,,ENST00000458578,;SCARNA17,downstream_gene_variant,,ENST00000516334,;SCARNA18,downstream_gene_variant,,ENST00000516796,;RN7SKP221,upstream_gene_variant,,ENST00000410420,;	5418	71	83	SUCCESS
PCDP1	0	.	GRCh37	2	120414105	120414105	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs574143774	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	29	74	0	ENST00000413369.3:c.*59C>T			ENST00000413369	NM_001271049.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33282.2	.	MUTECT|MUSE	.	CCTTGCGTCCA	NONE	byCluster	.	.	.	.	ENSP00000393222	.	24/24	.	.	.	.	.	.	.	.	rs574143774	24/24	PASS	ENST00000413369	Transcript	.	.	ENSG00000163075	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDP1_HUMAN	PCDP1	Uniprot_gn	.	.	UPI0001D322F9	SNV	PCDP1,3_prime_UTR_variant,,ENST00000413369,;PCDP1,3_prime_UTR_variant,,ENST00000602047,;PCDP1,intron_variant,,ENST00000443972,;PCDP1,non_coding_transcript_exon_variant,,ENST00000464578,;PCDP1,3_prime_UTR_variant,,ENST00000295220,;	2669	74	55	SUCCESS
CYB561D2	11068	.	GRCh37	3	50391187	50391187	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs35935807	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	34	0	ENST00000232508.5:c.*12C>T			ENST00000232508	NM_007022.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2827.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGCCTAGG	NONE	.	.	.	.	.	ENSP00000391209	.	3/3	.	.	.	.	.	.	.	.	rs35935807	3/3	PASS	ENST00000418577	Transcript	.	.	ENSG00000114395	30253	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C56D2_HUMAN	CYB561D2	HGNC	.	.	UPI000000DC32	SNV	CYB561D2,3_prime_UTR_variant,,ENST00000424512,;CYB561D2,3_prime_UTR_variant,,ENST00000418577,;CYB561D2,3_prime_UTR_variant,,ENST00000232508,;CYB561D2,3_prime_UTR_variant,,ENST00000425346,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;TMEM115,downstream_gene_variant,,ENST00000266025,;NPRL2,upstream_gene_variant,,ENST00000232501,;CYB561D2,intron_variant,,ENST00000490926,;NPRL2,upstream_gene_variant,,ENST00000493465,;CYB561D2,downstream_gene_variant,,ENST00000419046,;NPRL2,upstream_gene_variant,,ENST00000479512,;NPRL2,upstream_gene_variant,,ENST00000487632,;NPRL2,upstream_gene_variant,,ENST00000493907,;NPRL2,upstream_gene_variant,,ENST00000492805,;NPRL2,upstream_gene_variant,,ENST00000429366,;NPRL2,upstream_gene_variant,,ENST00000433999,;NPRL2,upstream_gene_variant,,ENST00000448302,;NPRL2,upstream_gene_variant,,ENST00000476064,;NPRL2,upstream_gene_variant,,ENST00000418825,;NPRL2,upstream_gene_variant,,ENST00000461020,;NPRL2,upstream_gene_variant,,ENST00000433381,;NPRL2,upstream_gene_variant,,ENST00000469839,;NPRL2,upstream_gene_variant,,ENST00000451194,;NPRL2,upstream_gene_variant,,ENST00000467294,;NPRL2,upstream_gene_variant,,ENST00000480296,;	1257	34	49	SUCCESS
U91328.2	0	.	GRCh37	6	26045843	26045843	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs1018182182	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	138	49	111	0				ENST00000454320		69		0	.	.	.	.	.	T	Q/*	protein_coding	YES	CCDS4576.1	205	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGTTCCAGCGC	NONE	.	.	hmmpanther:PTHR11426,PROSITE_patterns:PS00959,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000439493	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000540144	Transcript	.	.	ENSG00000196532	4768	.	.	HIGH	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3C	HGNC	.	.	UPI00000003C7	SNV	HIST1H3C,stop_gained,p.Gln69Ter,ENST00000540144,;HIST1H2BB,upstream_gene_variant,,ENST00000357905,;U91328.2,downstream_gene_variant,,ENST00000454320,;	205	111	187	SUCCESS
TRIM40	135644	.	GRCh37	6	30115684	30115684	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	10	22	0	ENST00000376724.2:c.*95T>C			ENST00000376724	NM_138700.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4675.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGTGCATC	NONE	.	.	.	.	.	ENSP00000308310	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000307859	Transcript	.	.	ENSG00000204614	18736	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI40_HUMAN	TRIM40	HGNC	.	.	UPI0000071E3D	SNV	TRIM40,3_prime_UTR_variant,,ENST00000396581,;TRIM40,3_prime_UTR_variant,,ENST00000376724,;TRIM40,3_prime_UTR_variant,,ENST00000307859,;TRIM10,downstream_gene_variant,,ENST00000376704,;TRIM10,downstream_gene_variant,,ENST00000449742,;	812	22	40	SUCCESS
CD274	29126	.	GRCh37	9	5467958	5467958	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1003581089	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	12	47	0	ENST00000381577.3:c.*96C>T			ENST00000381577	NM_014143.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6464.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCCCGTGGG	NONE	.	.	.	.	.	ENSP00000370989	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000381577	Transcript	.	.	ENSG00000120217	17635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PD1L1_HUMAN	CD274	HGNC	.	.	UPI000003816A	SNV	CD274,3_prime_UTR_variant,,ENST00000381573,;CD274,3_prime_UTR_variant,,ENST00000381577,;CD274,downstream_gene_variant,,ENST00000498261,;CD274,downstream_gene_variant,,ENST00000474218,;CD274,downstream_gene_variant,,ENST00000492923,;	1055	47	54	SUCCESS
COX7B	1349	.	GRCh37	X	77160846	77160846	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1416428829	.	TCGA-G3-AAV7-01	TCGA-G3-AAV7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	32	36	0	ENST00000481445.1:c.*88G>A			ENST00000481445	NM_001866.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14437.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	ATATGGCATTA	NONE	.	.	.	.	.	ENSP00000417656	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000481445	Transcript	.	.	ENSG00000131174	2291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COX7B_HUMAN	COX7B	HGNC	.	.	UPI0000049C75	SNV	COX7B,3_prime_UTR_variant,,ENST00000481445,;COX7B,downstream_gene_variant,,ENST00000475465,;COX7B,downstream_gene_variant,,ENST00000373335,;	447	36	49	SUCCESS
NREP	9315	.	GRCh37	5	111066610	111066610	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	36	5	38	0	ENST00000257435.7:c.*8A>G			ENST00000257435	NM_004772.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47255.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAGGTGTTAC	NONE	.	.	.	.	.	ENSP00000378996	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395634	Transcript	.	.	ENSG00000134986	16834	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NREP_HUMAN	NREP	HGNC	.	.	UPI000187F6BB	SNV	NREP,3_prime_UTR_variant,,ENST00000447165,;NREP,3_prime_UTR_variant,,ENST00000453526,;NREP,3_prime_UTR_variant,,ENST00000509979,;NREP,3_prime_UTR_variant,,ENST00000395634,;NREP,3_prime_UTR_variant,,ENST00000450761,;NREP,3_prime_UTR_variant,,ENST00000446294,;NREP,3_prime_UTR_variant,,ENST00000515855,;NREP,3_prime_UTR_variant,,ENST00000419114,;NREP,3_prime_UTR_variant,,ENST00000509427,;NREP,3_prime_UTR_variant,,ENST00000455559,;NREP,3_prime_UTR_variant,,ENST00000257435,;NREP,3_prime_UTR_variant,,ENST00000379671,;NREP,3_prime_UTR_variant,,ENST00000508870,;NREP,intron_variant,,ENST00000509025,;NREP,downstream_gene_variant,,ENST00000508161,;NREP,downstream_gene_variant,,ENST00000507032,;NREP,downstream_gene_variant,,ENST00000513100,;STARD4-AS1,intron_variant,,ENST00000500779,;STARD4-AS1,intron_variant,,ENST00000513221,;NREP,non_coding_transcript_exon_variant,,ENST00000507742,;NREP,intron_variant,,ENST00000514515,;NREP,downstream_gene_variant,,ENST00000503429,;NREP,downstream_gene_variant,,ENST00000505864,;NREP,downstream_gene_variant,,ENST00000504018,;	539	38	41	SUCCESS
ZNF479	90827	.	GRCh37	7	57187393	57187393	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	11	59	0	ENST00000331162.4:c.*154G>T			ENST00000331162	NM_033273.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43590.1	.	MUTECT|MUSE	.	TTTTACATTTA	NONE	.	.	.	.	.	ENSP00000333776	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331162	Transcript	.	.	ENSG00000185177	23258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN479_HUMAN	ZNF479	HGNC	I0EZ75_HUMAN	.	UPI000006E615	SNV	ZNF479,3_prime_UTR_variant,,ENST00000331162,;	2000	59	73	SUCCESS
KIAA1456	0	.	GRCh37	8	12886079	12886079	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-GJ-A3OU-01	TCGA-GJ-A3OU-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	12	50	0	ENST00000524591.2:c.*6526T>C			ENST00000524591	NM_020844.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47808.1	.	SOMATICSNIPER|VARSCANS	.	TTTTCTTTTCT	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	8380	50	39	SUCCESS
GREM1	26585	.	GRCh37	15	33025272	33025272	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1030291213	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	38	105	1	ENST00000300177.4:c.*1826C>T			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCGGGAG	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	2570	107	106	SUCCESS
STARD3	10948	.	GRCh37	17	37819182	37819182	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs371137052	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	31	0	ENST00000336308.5:c.*21C>T			ENST00000336308	NM_006804.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS11341.1	.	RADIA|MUSE	.	CCCTGCGGGCC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000337446	.	15/15	.	.	.	.	.	.	.	.	rs371137052	15/15	PASS	ENST00000336308	Transcript	.	.	ENSG00000131748	17579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAR3_HUMAN	STARD3	HGNC	J3QRG8_HUMAN,J3QLS1_HUMAN,J3KT87_HUMAN,J3KSL3_HUMAN,J3KSH0_HUMAN,C9J555_HUMAN,B3KVT4_HUMAN	.	UPI000013CE10	SNV	STARD3,missense_variant,p.Ala435Val,ENST00000580611,;STARD3,3_prime_UTR_variant,,ENST00000336308,;STARD3,3_prime_UTR_variant,,ENST00000544210,;STARD3,3_prime_UTR_variant,,ENST00000394250,;STARD3,downstream_gene_variant,,ENST00000577248,;TCAP,upstream_gene_variant,,ENST00000578283,;STARD3,downstream_gene_variant,,ENST00000583419,;STARD3,downstream_gene_variant,,ENST00000443521,;TCAP,upstream_gene_variant,,ENST00000309889,;STARD3,downstream_gene_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000582874,;STARD3,downstream_gene_variant,,ENST00000460894,;STARD3,downstream_gene_variant,,ENST00000578232,;STARD3,downstream_gene_variant,,ENST00000585214,;STARD3,3_prime_UTR_variant,,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000584850,;STARD3,non_coding_transcript_exon_variant,,ENST00000481171,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000585269,;STARD3,non_coding_transcript_exon_variant,,ENST00000471896,;STARD3,downstream_gene_variant,,ENST00000578384,;STARD3,downstream_gene_variant,,ENST00000583884,;STARD3,downstream_gene_variant,,ENST00000583582,;STARD3,downstream_gene_variant,,ENST00000484773,;STARD3,downstream_gene_variant,,ENST00000578686,;	1577	31	31	SUCCESS
DGKE	8526	.	GRCh37	17	54940211	54940211	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	14	0	ENST00000284061.3:c.*59C>G			ENST00000284061	NM_003647.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11590.1	.	RADIA|MUTECT|MUSE	.	TTCATCCAAAA	NONE	.	.	.	.	.	ENSP00000284061	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000284061	Transcript	.	.	ENSG00000153933	2852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGKE_HUMAN	DGKE	HGNC	A1L4Q0_HUMAN	.	UPI000012DD1F	SNV	DGKE,3_prime_UTR_variant,,ENST00000570738,;DGKE,3_prime_UTR_variant,,ENST00000572944,;DGKE,3_prime_UTR_variant,,ENST00000284061,;	1943	14	12	SUCCESS
VAV3	10451	.	GRCh37	1	108115914	108115914	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1192974517	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	75	1	ENST00000370056.4:c.*39G>A			ENST00000370056	NM_006113.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS785.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCTGAAA	NONE	.	.	.	.	.	ENSP00000359073	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,3_prime_UTR_variant,,ENST00000370056,;VAV3,3_prime_UTR_variant,,ENST00000415432,;VAV3,3_prime_UTR_variant,,ENST00000544443,;VAV3,3_prime_UTR_variant,,ENST00000527011,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,3_prime_UTR_variant,,ENST00000529413,;	2858	76	74	SUCCESS
HFE2	0	.	GRCh37	1	145417369	145417369	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	31	92	1	ENST00000336751.5:c.*433G>T			ENST00000336751	NM_213653.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS910.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTGATGAA	NONE	.	.	.	.	.	ENSP00000337014	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000336751	Transcript	.	.	ENSG00000168509	4887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGMC_HUMAN	HFE2	HGNC	F8W6J7_HUMAN,A8K466_HUMAN	.	UPI000013EB58	SNV	HFE2,3_prime_UTR_variant,,ENST00000336751,;HFE2,3_prime_UTR_variant,,ENST00000475797,;HFE2,3_prime_UTR_variant,,ENST00000497365,;HFE2,3_prime_UTR_variant,,ENST00000357836,;HFE2,downstream_gene_variant,,ENST00000421822,;	1952	93	152	SUCCESS
DENND4B	9909	.	GRCh37	1	153902700	153902700	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	15	0	ENST00000361217.4:c.*73C>T			ENST00000361217	NM_014856.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44228.1	.	MUTECT|MUSE	.	AACAGGGAAGC	NONE	.	.	.	.	.	ENSP00000354597	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000361217	Transcript	.	.	ENSG00000198837	29044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN4B_HUMAN	DENND4B	HGNC	.	.	UPI000047EA3E	SNV	DENND4B,3_prime_UTR_variant,,ENST00000361217,;DENND4B,downstream_gene_variant,,ENST00000368646,;DENND4B,downstream_gene_variant,,ENST00000474386,;DENND4B,non_coding_transcript_exon_variant,,ENST00000480340,;DENND4B,downstream_gene_variant,,ENST00000492898,;DENND4B,downstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000462423,;	4983	15	26	SUCCESS
C22orf39	128977	.	GRCh37	22	19429341	19429341	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	14	0	ENST00000399562.4:c.*2447C>T			ENST00000399562	NM_173793.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33599.2	.	MUTECT|MUSE	.	GACAGGATATT	NONE	.	.	.	.	.	ENSP00000382474	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000399562	Transcript	.	.	ENSG00000242259	27012	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CV039_HUMAN	C22orf39	HGNC	.	.	UPI0000D4CFB9	SNV	C22orf39,3_prime_UTR_variant,,ENST00000399562,;C22orf39,intron_variant,,ENST00000542103,;C22orf39,intron_variant,,ENST00000399568,;HIRA,intron_variant,,ENST00000541063,;HIRA,intron_variant,,ENST00000546308,;C22orf39,downstream_gene_variant,,ENST00000333059,;HIRA,intron_variant,,ENST00000452818,;C22orf39,intron_variant,,ENST00000509549,;	3309	14	15	SUCCESS
CNTNAP5	129684	.	GRCh37	2	125672720	125672720	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1039804553	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	109	5	91	0	ENST00000431078.1:c.*855T>C			ENST00000431078	NM_130773.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46401.1	.	MUTECT|MUSE	.	ATATATACACA	NONE	.	.	.	.	.	ENSP00000399013	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000431078	Transcript	.	.	ENSG00000155052	18748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNTP5_HUMAN	CNTNAP5	HGNC	.	.	UPI0000071988	SNV	CNTNAP5,3_prime_UTR_variant,,ENST00000431078,;	5140	91	115	SUCCESS
PDK1	5163	.	GRCh37	2	173460757	173460757	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs70937079	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	65	1	ENST00000282077.3:c.*60G>A			ENST00000282077				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2250.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGGTGTTC	NONE	.	.	.	.	.	ENSP00000282077	.	11/11	.	.	.	.	.	.	.	.	rs70937079	11/11	PASS	ENST00000282077	Transcript	.	.	ENSG00000152256	8809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDK1_HUMAN	PDK1	HGNC	C9JKT3_HUMAN,Q53R49_HUMAN,B7Z7N6_HUMAN,B7Z207_HUMAN	.	UPI0000001C7A	SNV	PDK1,splice_region_variant,,ENST00000410055,;PDK1,splice_region_variant,,ENST00000543905,;PDK1,3_prime_UTR_variant,,ENST00000282077,;PDK1,downstream_gene_variant,,ENST00000392571,;PDK1,downstream_gene_variant,,ENST00000544863,;PDK1,downstream_gene_variant,,ENST00000466437,;	1553	66	67	SUCCESS
GBX2	2637	.	GRCh37	2	237074543	237074543	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	27	2	ENST00000306318.4:c.*14C>T			ENST00000306318	NM_001485.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2515.1	.	SOMATICSNIPER|VARSCANS	.	CCCTGGCCCTT	NONE	.	.	.	.	.	ENSP00000302251	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000306318	Transcript	.	.	ENSG00000168505	4186	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GBX2_HUMAN	GBX2	HGNC	.	.	UPI000012B273	SNV	GBX2,3_prime_UTR_variant,,ENST00000551105,;GBX2,3_prime_UTR_variant,,ENST00000306318,;AC079135.1,upstream_gene_variant,,ENST00000483218,;AC079135.1,upstream_gene_variant,,ENST00000415226,;GBX2,non_coding_transcript_exon_variant,,ENST00000465889,;	1459	29	30	SUCCESS
KLHDC10	23008	.	GRCh37	7	129770641	129770641	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	77	0	ENST00000335420.5:c.*55A>G			ENST00000335420	NM_014997.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5815.1	.	MUTECT|MUSE	.	CCTTTATTTAT	NONE	.	.	.	.	.	ENSP00000334140	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000335420	Transcript	.	.	ENSG00000128607	22194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLD10_HUMAN	KLHDC10	HGNC	C9JRX2_HUMAN	.	UPI0000160705	SNV	KLHDC10,3_prime_UTR_variant,,ENST00000335420,;	1518	77	60	SUCCESS
IDO1	3620	.	GRCh37	8	39785854	39785854	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs543884126	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	29	0	ENST00000518237.1:c.*150G>A			ENST00000518237	NM_002164.5			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS47847.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTGTAGGA	NONE	by1000G	.	.	C:0	.	ENSP00000430950	C:0	10/10	.	.	.	.	.	.	.	.	rs543884126	10/10	PASS	ENST00000518237	Transcript	.	C:0.0002	ENSG00000131203	6059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	I23O1_HUMAN	IDO1	HGNC	E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN	.	UPI00000012AA	SNV	IDO1,3_prime_UTR_variant,,ENST00000522495,;IDO1,3_prime_UTR_variant,,ENST00000518237,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,downstream_gene_variant,,ENST00000523779,;IDO1,downstream_gene_variant,,ENST00000521480,;	2001	29	24	SUCCESS
THAP1	55145	.	GRCh37	8	42692993	42692993	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	9	0	ENST00000254250.3:c.*112T>C			ENST00000254250	NM_018105.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6136.1	.	MUTECT|MUSE	.	TTCTGAACTGT	NONE	.	.	.	.	.	ENSP00000254250	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254250	Transcript	1	.	ENSG00000131931	20856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THAP1_HUMAN	THAP1	HGNC	.	.	UPI000007035E	SNV	THAP1,3_prime_UTR_variant,,ENST00000345117,;THAP1,3_prime_UTR_variant,,ENST00000254250,;THAP1,downstream_gene_variant,,ENST00000529779,;THAP1,downstream_gene_variant,,ENST00000532093,;	985	9	12	SUCCESS
DPM2	8818	.	GRCh37	9	130697971	130697971	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	47	1	ENST00000314392.8:c.*30C>G			ENST00000314392	NM_003863.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6886.1	.	RADIA|MUTECT	.	GAGAAGGGGCT	NONE	.	.	.	.	.	ENSP00000322181	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000314392	Transcript	.	.	ENSG00000136908	3006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPM2_HUMAN	DPM2	HGNC	.	.	UPI00000009FE	SNV	DPM2,3_prime_UTR_variant,,ENST00000314392,;FAM102A,downstream_gene_variant,,ENST00000373095,;DPM2,downstream_gene_variant,,ENST00000373110,;PIP5KL1,upstream_gene_variant,,ENST00000388747,;RP11-203J24.8,intron_variant,,ENST00000592240,;RP11-203J24.8,upstream_gene_variant,,ENST00000590283,;RP11-203J24.8,upstream_gene_variant,,ENST00000587978,;RP11-203J24.8,upstream_gene_variant,,ENST00000588890,;RP11-203J24.8,upstream_gene_variant,,ENST00000591408,;RP11-203J24.8,upstream_gene_variant,,ENST00000587355,;RP11-203J24.8,upstream_gene_variant,,ENST00000415141,;RP11-203J24.8,upstream_gene_variant,,ENST00000608805,;RP11-203J24.8,upstream_gene_variant,,ENST00000586374,;PIP5KL1,upstream_gene_variant,,ENST00000492296,;DPM2,non_coding_transcript_exon_variant,,ENST00000495270,;DPM2,non_coding_transcript_exon_variant,,ENST00000473360,;DPM2,non_coding_transcript_exon_variant,,ENST00000470181,;	949	48	37	SUCCESS
ABHD13	84945	.	GRCh37	13	108886469	108886469	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	270	145	417	0	ENST00000375898.3:c.*3889C>T			ENST00000375898	NM_032859.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGTACATTGT	NONE	.	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	5204	417	415	SUCCESS
GREM1	26585	.	GRCh37	15	33025272	33025272	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1030291213	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	38	118	0	ENST00000300177.4:c.*1826C>T			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGGCGGGAG	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	2570	118	106	SUCCESS
TOX3	27324	.	GRCh37	16	52473001	52473001	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	13	0	ENST00000219746.9:c.*136T>A			ENST00000219746	NM_001080430.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54009.1	.	MUTECT|MUSE	.	CTAATAGACAC	NONE	.	.	.	.	.	ENSP00000219746	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000219746	Transcript	.	.	ENSG00000103460	11972	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOX3_HUMAN	TOX3	HGNC	H3BTZ9_HUMAN	.	UPI00001972E7	SNV	TOX3,3_prime_UTR_variant,,ENST00000407228,;TOX3,3_prime_UTR_variant,,ENST00000219746,;TOX3,non_coding_transcript_exon_variant,,ENST00000566696,;	2152	13	13	SUCCESS
STARD3	10948	.	GRCh37	17	37819182	37819182	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs371137052	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	48	0	ENST00000336308.5:c.*21C>T			ENST00000336308	NM_006804.3			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS11341.1	.	RADIA|MUSE	.	CCCTGCGGGCC	NONE	byFrequency|byCluster	.	.	.	T:0.0001	ENSP00000337446	.	15/15	.	.	.	.	.	.	.	.	rs371137052	15/15	nonpreferredpair	ENST00000336308	Transcript	.	.	ENSG00000131748	17579	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	STAR3_HUMAN	STARD3	HGNC	J3QRG8_HUMAN,J3QLS1_HUMAN,J3KT87_HUMAN,J3KSL3_HUMAN,J3KSH0_HUMAN,C9J555_HUMAN,B3KVT4_HUMAN	.	UPI000013CE10	SNV	STARD3,missense_variant,p.Ala435Val,ENST00000580611,;STARD3,3_prime_UTR_variant,,ENST00000336308,;STARD3,3_prime_UTR_variant,,ENST00000544210,;STARD3,3_prime_UTR_variant,,ENST00000394250,;STARD3,downstream_gene_variant,,ENST00000577248,;TCAP,upstream_gene_variant,,ENST00000578283,;STARD3,downstream_gene_variant,,ENST00000583419,;STARD3,downstream_gene_variant,,ENST00000443521,;TCAP,upstream_gene_variant,,ENST00000309889,;STARD3,downstream_gene_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000582874,;STARD3,downstream_gene_variant,,ENST00000460894,;STARD3,downstream_gene_variant,,ENST00000578232,;STARD3,downstream_gene_variant,,ENST00000585214,;STARD3,3_prime_UTR_variant,,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000584850,;STARD3,non_coding_transcript_exon_variant,,ENST00000481171,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000585269,;STARD3,non_coding_transcript_exon_variant,,ENST00000471896,;STARD3,downstream_gene_variant,,ENST00000578384,;STARD3,downstream_gene_variant,,ENST00000583884,;STARD3,downstream_gene_variant,,ENST00000583582,;STARD3,downstream_gene_variant,,ENST00000484773,;STARD3,downstream_gene_variant,,ENST00000578686,;	1577	48	31	SUCCESS
DGKE	8526	.	GRCh37	17	54940211	54940211	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	22	0	ENST00000284061.3:c.*59C>G			ENST00000284061	NM_003647.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11590.1	.	RADIA|MUTECT|MUSE	.	TTCATCCAAAA	NONE	.	.	.	.	.	ENSP00000284061	.	12/12	.	.	.	.	.	.	.	.	.	12/12	nonpreferredpair	ENST00000284061	Transcript	.	.	ENSG00000153933	2852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGKE_HUMAN	DGKE	HGNC	A1L4Q0_HUMAN	.	UPI000012DD1F	SNV	DGKE,3_prime_UTR_variant,,ENST00000570738,;DGKE,3_prime_UTR_variant,,ENST00000572944,;DGKE,3_prime_UTR_variant,,ENST00000284061,;	1943	22	12	SUCCESS
VAV3	10451	.	GRCh37	1	108115914	108115914	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1192974517	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	22	82	0	ENST00000370056.4:c.*39G>A			ENST00000370056	NM_006113.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS785.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCTCTGAAA	NONE	.	.	.	.	.	ENSP00000359073	.	27/27	.	.	.	.	.	.	.	.	.	27/27	nonpreferredpair	ENST00000370056	Transcript	.	.	ENSG00000134215	12659	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAV3_HUMAN	VAV3	HGNC	F5GXH7_HUMAN	.	UPI0000138212	SNV	VAV3,3_prime_UTR_variant,,ENST00000370056,;VAV3,3_prime_UTR_variant,,ENST00000415432,;VAV3,3_prime_UTR_variant,,ENST00000544443,;VAV3,3_prime_UTR_variant,,ENST00000527011,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,3_prime_UTR_variant,,ENST00000529413,;	2858	82	74	SUCCESS
HFE2	0	.	GRCh37	1	145417369	145417369	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	31	80	0	ENST00000336751.5:c.*433G>T			ENST00000336751	NM_213653.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS910.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTGATGAA	NONE	.	.	.	.	.	ENSP00000337014	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000336751	Transcript	.	.	ENSG00000168509	4887	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGMC_HUMAN	HFE2	HGNC	F8W6J7_HUMAN,A8K466_HUMAN	.	UPI000013EB58	SNV	HFE2,3_prime_UTR_variant,,ENST00000336751,;HFE2,3_prime_UTR_variant,,ENST00000475797,;HFE2,3_prime_UTR_variant,,ENST00000497365,;HFE2,3_prime_UTR_variant,,ENST00000357836,;HFE2,downstream_gene_variant,,ENST00000421822,;	1952	80	152	SUCCESS
DENND4B	9909	.	GRCh37	1	153902700	153902700	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	10	0	ENST00000361217.4:c.*73C>T			ENST00000361217	NM_014856.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44228.1	.	MUTECT|MUSE	.	AACAGGGAAGC	NONE	.	.	.	.	.	ENSP00000354597	.	28/28	.	.	.	.	.	.	.	.	.	28/28	nonpreferredpair	ENST00000361217	Transcript	.	.	ENSG00000198837	29044	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DEN4B_HUMAN	DENND4B	HGNC	.	.	UPI000047EA3E	SNV	DENND4B,3_prime_UTR_variant,,ENST00000361217,;DENND4B,downstream_gene_variant,,ENST00000368646,;DENND4B,downstream_gene_variant,,ENST00000474386,;DENND4B,non_coding_transcript_exon_variant,,ENST00000480340,;DENND4B,downstream_gene_variant,,ENST00000492898,;DENND4B,downstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000462423,;	4983	10	26	SUCCESS
C22orf39	128977	.	GRCh37	22	19429341	19429341	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	14	0	ENST00000399562.4:c.*2447C>T			ENST00000399562	NM_173793.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33599.2	.	MUTECT|MUSE	.	GACAGGATATT	NONE	.	.	.	.	.	ENSP00000382474	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000399562	Transcript	.	.	ENSG00000242259	27012	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CV039_HUMAN	C22orf39	HGNC	.	.	UPI0000D4CFB9	SNV	C22orf39,3_prime_UTR_variant,,ENST00000399562,;C22orf39,intron_variant,,ENST00000542103,;C22orf39,intron_variant,,ENST00000399568,;HIRA,intron_variant,,ENST00000541063,;HIRA,intron_variant,,ENST00000546308,;C22orf39,downstream_gene_variant,,ENST00000333059,;HIRA,intron_variant,,ENST00000452818,;C22orf39,intron_variant,,ENST00000509549,;	3309	14	15	SUCCESS
PDK1	5163	.	GRCh37	2	173460757	173460757	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs70937079	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	21	60	1	ENST00000282077.3:c.*60G>A			ENST00000282077				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2250.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTATGGTGTTC	NONE	.	.	.	.	.	ENSP00000282077	.	11/11	.	.	.	.	.	.	.	.	rs70937079	11/11	nonpreferredpair	ENST00000282077	Transcript	.	.	ENSG00000152256	8809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDK1_HUMAN	PDK1	HGNC	C9JKT3_HUMAN,Q53R49_HUMAN,B7Z7N6_HUMAN,B7Z207_HUMAN	.	UPI0000001C7A	SNV	PDK1,splice_region_variant,,ENST00000410055,;PDK1,splice_region_variant,,ENST00000543905,;PDK1,3_prime_UTR_variant,,ENST00000282077,;PDK1,downstream_gene_variant,,ENST00000392571,;PDK1,downstream_gene_variant,,ENST00000544863,;PDK1,downstream_gene_variant,,ENST00000466437,;	1553	61	67	SUCCESS
GBX2	2637	.	GRCh37	2	237074543	237074543	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	11	39	0	ENST00000306318.4:c.*14C>T			ENST00000306318	NM_001485.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2515.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGCCCTT	NONE	.	.	.	.	.	ENSP00000302251	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000306318	Transcript	.	.	ENSG00000168505	4186	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBX2_HUMAN	GBX2	HGNC	.	.	UPI000012B273	SNV	GBX2,3_prime_UTR_variant,,ENST00000551105,;GBX2,3_prime_UTR_variant,,ENST00000306318,;AC079135.1,upstream_gene_variant,,ENST00000483218,;AC079135.1,upstream_gene_variant,,ENST00000415226,;GBX2,non_coding_transcript_exon_variant,,ENST00000465889,;	1459	39	30	SUCCESS
UBE2F	140739	.	GRCh37	2	238950200	238950200	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	11	0	ENST00000272930.4:c.*221A>C			ENST00000272930	NM_001278308.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2523.1	.	MUTECT|MUSE	.	TTCTGAAGAGT	NONE	.	.	.	.	.	ENSP00000272930	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000272930	Transcript	.	.	ENSG00000184182	12480	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UBE2F_HUMAN	UBE2F	HGNC	C9J9P8_HUMAN	.	UPI000007332C	SNV	UBE2F,3_prime_UTR_variant,,ENST00000409953,;UBE2F,3_prime_UTR_variant,,ENST00000409332,;UBE2F,3_prime_UTR_variant,,ENST00000414443,;UBE2F,3_prime_UTR_variant,,ENST00000272930,;UBE2F,downstream_gene_variant,,ENST00000409633,;UBE2F,downstream_gene_variant,,ENST00000434655,;UBE2F,downstream_gene_variant,,ENST00000416292,;UBE2F,3_prime_UTR_variant,,ENST00000454786,;UBE2F,3_prime_UTR_variant,,ENST00000445676,;UBE2F,3_prime_UTR_variant,,ENST00000433241,;UBE2F,3_prime_UTR_variant,,ENST00000441728,;UBE2F,non_coding_transcript_exon_variant,,ENST00000480828,;UBE2F,non_coding_transcript_exon_variant,,ENST00000472479,;UBE2F-SCLY,intron_variant,,ENST00000449891,;UBE2F-SCLY,intron_variant,,ENST00000449191,;UBE2F,downstream_gene_variant,,ENST00000455999,;UBE2F,downstream_gene_variant,,ENST00000417231,;UBE2F,downstream_gene_variant,,ENST00000439780,;UBE2F,downstream_gene_variant,,ENST00000439338,;	973	11	14	SUCCESS
KLHDC10	23008	.	GRCh37	7	129770641	129770641	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	3	60	0	ENST00000335420.5:c.*55A>G			ENST00000335420	NM_014997.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5815.1	.	MUTECT|MUSE	.	CCTTTATTTAT	NONE	.	.	.	.	.	ENSP00000334140	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000335420	Transcript	.	.	ENSG00000128607	22194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLD10_HUMAN	KLHDC10	HGNC	C9JRX2_HUMAN	.	UPI0000160705	SNV	KLHDC10,3_prime_UTR_variant,,ENST00000335420,;	1518	60	60	SUCCESS
IDO1	3620	.	GRCh37	8	39785854	39785854	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs543884126	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	22	0	ENST00000518237.1:c.*150G>A			ENST00000518237	NM_002164.5			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS47847.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTTGTAGGA	NONE	by1000G	.	.	C:0	.	ENSP00000430950	C:0	10/10	.	.	.	.	.	.	.	.	rs543884126	10/10	nonpreferredpair	ENST00000518237	Transcript	.	C:0.0002	ENSG00000131203	6059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0.001	.	.	I23O1_HUMAN	IDO1	HGNC	E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN	.	UPI00000012AA	SNV	IDO1,3_prime_UTR_variant,,ENST00000522495,;IDO1,3_prime_UTR_variant,,ENST00000518237,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,downstream_gene_variant,,ENST00000523779,;IDO1,downstream_gene_variant,,ENST00000521480,;	2001	23	24	SUCCESS
DPM2	8818	.	GRCh37	9	130697971	130697971	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-GJ-A6C0-01	TCGA-GJ-A6C0-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	27	0	ENST00000314392.8:c.*30C>G			ENST00000314392	NM_003863.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6886.1	.	RADIA|MUTECT|MUSE	.	GAGAAGGGGCT	NONE	.	.	.	.	.	ENSP00000322181	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000314392	Transcript	.	.	ENSG00000136908	3006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPM2_HUMAN	DPM2	HGNC	.	.	UPI00000009FE	SNV	DPM2,3_prime_UTR_variant,,ENST00000314392,;FAM102A,downstream_gene_variant,,ENST00000373095,;DPM2,downstream_gene_variant,,ENST00000373110,;PIP5KL1,upstream_gene_variant,,ENST00000388747,;RP11-203J24.8,intron_variant,,ENST00000592240,;RP11-203J24.8,upstream_gene_variant,,ENST00000590283,;RP11-203J24.8,upstream_gene_variant,,ENST00000587978,;RP11-203J24.8,upstream_gene_variant,,ENST00000588890,;RP11-203J24.8,upstream_gene_variant,,ENST00000591408,;RP11-203J24.8,upstream_gene_variant,,ENST00000587355,;RP11-203J24.8,upstream_gene_variant,,ENST00000415141,;RP11-203J24.8,upstream_gene_variant,,ENST00000608805,;RP11-203J24.8,upstream_gene_variant,,ENST00000586374,;PIP5KL1,upstream_gene_variant,,ENST00000492296,;DPM2,non_coding_transcript_exon_variant,,ENST00000495270,;DPM2,non_coding_transcript_exon_variant,,ENST00000473360,;DPM2,non_coding_transcript_exon_variant,,ENST00000470181,;	949	27	39	SUCCESS
AKR1E2	83592	.	GRCh37	10	4889922	4889922	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1023509634	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	25	0	ENST00000298375.7:c.*200C>T			ENST00000298375	NM_001040177.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31134.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTCCAAGAC	NONE	.	.	.	.	.	ENSP00000298375	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000298375	Transcript	.	.	ENSG00000165568	23437	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AKCL2_HUMAN	AKR1E2	HGNC	.	.	UPI00001AEC7A	SNV	AKR1E2,3_prime_UTR_variant,,ENST00000345253,;AKR1E2,3_prime_UTR_variant,,ENST00000334019,;AKR1E2,3_prime_UTR_variant,,ENST00000298375,;AKR1E2,downstream_gene_variant,,ENST00000487985,;AKR1E2,downstream_gene_variant,,ENST00000532248,;AKR1E2,downstream_gene_variant,,ENST00000525281,;AKR1E2,downstream_gene_variant,,ENST00000441590,;AKR1E2,3_prime_UTR_variant,,ENST00000463345,;AKR1E2,3_prime_UTR_variant,,ENST00000474119,;	1234	25	16	SUCCESS
BCO2	83875	.	GRCh37	11	112088799	112088799	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	14	0	ENST00000357685.5:c.*202A>T			ENST00000357685				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8358.2	.	MUTECT|MUSE	.	AATATACTCAT	NONE	.	.	.	.	.	ENSP00000350314	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000357685	Transcript	.	.	ENSG00000197580	18503	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BCDO2_HUMAN	BCO2	HGNC	E9PS89_HUMAN,B0YIX6_HUMAN	.	UPI00005FB124	SNV	BCO2,3_prime_UTR_variant,,ENST00000361053,;BCO2,3_prime_UTR_variant,,ENST00000526088,;BCO2,3_prime_UTR_variant,,ENST00000438022,;BCO2,3_prime_UTR_variant,,ENST00000357685,;BCO2,3_prime_UTR_variant,,ENST00000525175,;BCO2,3_prime_UTR_variant,,ENST00000393032,;BCO2,intron_variant,,ENST00000531169,;BCO2,downstream_gene_variant,,ENST00000532593,;BCO2,downstream_gene_variant,,ENST00000530677,;BCO2,non_coding_transcript_exon_variant,,ENST00000532673,;BCO2,non_coding_transcript_exon_variant,,ENST00000532716,;BCO2,non_coding_transcript_exon_variant,,ENST00000460924,;BCO2,downstream_gene_variant,,ENST00000494860,;RPS12P21,upstream_gene_variant,,ENST00000471647,;	2077	14	9	SUCCESS
OR51E1	143503	.	GRCh37	11	4676051	4676051	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	77	20	92	0	ENST00000396952.5:c.*1338A>G			ENST00000396952	NM_152430.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31358.2	.	RADIA|MUTECT|MUSE	.	AGGATATGACA	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	2945	92	97	SUCCESS
ZIC2	7546	.	GRCh37	13	100637938	100637938	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	183	513	0	ENST00000376335.3:c.*2G>T			ENST00000376335	NM_007129.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9495.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGACGGGTCG	NONE	.	.	.	.	.	ENSP00000365514	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000376335	Transcript	.	.	ENSG00000043355	12873	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZIC2_HUMAN	ZIC2	HGNC	.	.	UPI000013C3DC	SNV	ZIC2,3_prime_UTR_variant,,ENST00000376335,;ZIC2,intron_variant,,ENST00000481565,;ZIC2,downstream_gene_variant,,ENST00000468291,;ZIC2,downstream_gene_variant,,ENST00000477213,;ZIC2,downstream_gene_variant,,ENST00000490085,;	1894	513	333	SUCCESS
ABCA5	23461	.	GRCh37	17	67243677	67243677	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	10	70	0	ENST00000392676.3:c.*1A>G			ENST00000392676				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11685.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAAATTCAAA	NONE	.	.	.	.	.	ENSP00000376443	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000392676	Transcript	.	.	ENSG00000154265	35	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABCA5_HUMAN	ABCA5	HGNC	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN	.	UPI000013DD9E	SNV	ABCA5,3_prime_UTR_variant,,ENST00000392676,;ABCA5,3_prime_UTR_variant,,ENST00000588877,;ABCA5,3_prime_UTR_variant,,ENST00000392677,;ABCA10,upstream_gene_variant,,ENST00000416101,;ABCA10,upstream_gene_variant,,ENST00000432313,;ABCA5,downstream_gene_variant,,ENST00000586811,;ABCA10,upstream_gene_variant,,ENST00000269081,;ABCA5,3_prime_UTR_variant,,ENST00000591234,;ABCA5,3_prime_UTR_variant,,ENST00000586995,;ABCA5,non_coding_transcript_exon_variant,,ENST00000586601,;ABCA5,downstream_gene_variant,,ENST00000588106,;	4995	70	60	SUCCESS
APC2	10297	.	GRCh37	19	1470246	1470246	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	26	64	0	ENST00000233607.2:c.*34C>A			ENST00000233607	NM_005883.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12068.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCGGCCC	NONE	.	.	.	.	.	ENSP00000442954	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000535453	Transcript	1	.	ENSG00000115266	24036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	APC2_HUMAN	APC2	HGNC	K7ELQ3_HUMAN,K7EN62_HUMAN	.	UPI0000073D85	SNV	APC2,3_prime_UTR_variant,,ENST00000233607,;APC2,3_prime_UTR_variant,,ENST00000238483,;APC2,3_prime_UTR_variant,,ENST00000535453,;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000586564,;C19orf25,downstream_gene_variant,,ENST00000436106,;C19orf25,downstream_gene_variant,,ENST00000588849,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000592872,;C19orf25,downstream_gene_variant,,ENST00000585675,;C19orf25,downstream_gene_variant,,ENST00000590621,;C19orf25,downstream_gene_variant,,ENST00000588871,;C19orf25,downstream_gene_variant,,ENST00000592486,;APC2,downstream_gene_variant,,ENST00000593146,;	8659	64	59	SUCCESS
PLEKHB2	55041	.	GRCh37	2	131904528	131904528	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-GJ-A9DB-01	TCGA-GJ-A9DB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	8	0	ENST00000409279.1:c.*182A>G			ENST00000409279				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS58730.1	.	MUTECT|MUSE	.	GTGCTATTTTG	NONE	.	.	.	.	.	ENSP00000386410	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000409158	Transcript	.	.	ENSG00000115762	19236	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHB2_HUMAN	PLEKHB2	HGNC	.	.	UPI0000EE817E	SNV	PLEKHB2,3_prime_UTR_variant,,ENST00000403716,;PLEKHB2,3_prime_UTR_variant,,ENST00000538982,;PLEKHB2,3_prime_UTR_variant,,ENST00000439822,;PLEKHB2,3_prime_UTR_variant,,ENST00000438882,;PLEKHB2,3_prime_UTR_variant,,ENST00000409612,;PLEKHB2,3_prime_UTR_variant,,ENST00000409158,;PLEKHB2,3_prime_UTR_variant,,ENST00000234115,;PLEKHB2,3_prime_UTR_variant,,ENST00000409279,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;	1435	8	8	SUCCESS
SOCS6	9306	.	GRCh37	18	67995108	67995108	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	64	0	ENST00000397942.3:c.*1596T>G			ENST00000397942	NM_004232.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGCTTTGTC	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,downstream_gene_variant,,ENST00000578377,;SOCS6,downstream_gene_variant,,ENST00000582322,;	3520	64	71	SUCCESS
KCNE4	23704	.	GRCh37	2	223920250	223920250	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs993205262	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	3	33	0	ENST00000281830.3:c.*2189G>A			ENST00000281830	NM_080671.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	ATTCTGTTGAG	NONE	.	.	.	.	.	ENSP00000473755	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000604125	Transcript	.	.	ENSG00000152049	6244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCNE4_HUMAN	KCNE4	HGNC	Q2N1I0_HUMAN,A5H1P5_HUMAN	.	UPI000013DCA0	SNV	KCNE4,3_prime_UTR_variant,,ENST00000604125,;KCNE4,3_prime_UTR_variant,,ENST00000281830,;KCNE4,intron_variant,,ENST00000488477,;	2856	33	41	SUCCESS
CNOT6L	246175	.	GRCh37	4	78641452	78641452	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	5	26	0	ENST00000504123.1:c.*133A>T			ENST00000504123	NM_001286790.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47082.1	.	MUTECT|MUSE	.	AAGTCTTACAG	NONE	.	.	.	.	.	ENSP00000264903	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000264903	Transcript	.	.	ENSG00000138767	18042	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CNO6L_HUMAN	CNOT6L	HGNC	D6RGK9_HUMAN	.	UPI0000E445DF	SNV	CNOT6L,3_prime_UTR_variant,,ENST00000504123,;CNOT6L,3_prime_UTR_variant,,ENST00000264903,;CNOT6L,3_prime_UTR_variant,,ENST00000515506,;CNOT6L,3_prime_UTR_variant,,ENST00000512485,;CNOT6L,3_prime_UTR_variant,,ENST00000504804,;	1883	26	32	SUCCESS
DOCK2	1794	.	GRCh37	5	169509944	169509944	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-HP-A5MZ-01	TCGA-HP-A5MZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	23	0	ENST00000256935.8:c.*82C>A			ENST00000256935	NM_004946.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4371.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAAGCCTCAGA	NONE	.	.	.	.	.	ENSP00000256935	.	52/52	.	.	.	.	.	.	.	.	.	52/52	PASS	ENST00000256935	Transcript	.	.	ENSG00000134516	2988	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOCK2_HUMAN	DOCK2	HGNC	Q5XG91_HUMAN,B3KXW9_HUMAN	.	UPI00001A38CC	SNV	DOCK2,3_prime_UTR_variant,,ENST00000540750,;DOCK2,3_prime_UTR_variant,,ENST00000256935,;DOCK2,3_prime_UTR_variant,,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;DOCK2,downstream_gene_variant,,ENST00000524185,;	5655	23	27	SUCCESS
NPAP1	23742	.	GRCh37	15	24925808	24925808	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	29	132	0	ENST00000329468.2:c.*1323A>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCAGAACC	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	5268	132	96	SUCCESS
CHD9	80205	.	GRCh37	16	53358851	53358851	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	9	63	1	ENST00000398510.3:c.*44T>G			ENST00000398510				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45485.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ATTTTTTCTTT	NONE	.	.	.	.	.	ENSP00000457466	.	39/39	.	.	.	.	.	.	.	.	.	39/39	PASS	ENST00000566029	Transcript	.	.	ENSG00000177200	25701	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CHD9_HUMAN	CHD9	HGNC	H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN	.	UPI00001FF1A0	SNV	CHD9,3_prime_UTR_variant,,ENST00000566029,;CHD9,3_prime_UTR_variant,,ENST00000447540,;CHD9,3_prime_UTR_variant,,ENST00000564845,;CHD9,3_prime_UTR_variant,,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,downstream_gene_variant,,ENST00000564641,;CHD9,downstream_gene_variant,,ENST00000564600,;	8899	65	43	SUCCESS
OSCAR	126014	.	GRCh37	19	54598520	54598530	+	3_prime_UTR_variant	3'UTR	DEL	CTGCGCCAGTC	CTGCGCCAGTC	-	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	CTGCGCCAGTC	CTGCGCCAGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	186	36	316	0	ENST00000359649.4:c.*413_*423del			ENST00000359649	NM_206818.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12876.1	.	VARSCANI*|PINDEL	.	TTCTGACTGCGCCAGTCAAAAG	NONE	.	.	.	.	.	ENSP00000352671	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	deletion	OSCAR,frameshift_variant,p.Asp239SerfsTer46,ENST00000351806,;OSCAR,frameshift_variant,p.Asp254SerfsTer46,ENST00000356532,;OSCAR,frameshift_variant,p.Asp250SerfsTer46,ENST00000358375,;OSCAR,3_prime_UTR_variant,,ENST00000284648,;OSCAR,3_prime_UTR_variant,,ENST00000359649,;OSCAR,3_prime_UTR_variant,,ENST00000391761,;OSCAR,downstream_gene_variant,,ENST00000391760,;	1297-1307	316	222	SUCCESS
CD1D	912	.	GRCh37	1	158154012	158154012	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	31	56	0	ENST00000368171.3:c.*72G>C			ENST00000368171	NM_001766.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1173.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGGTCTGC	NONE	.	.	.	.	.	ENSP00000357153	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000368171	Transcript	.	.	ENSG00000158473	1637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD1D_HUMAN	CD1D	HGNC	.	.	UPI00000012B1	SNV	CD1D,3_prime_UTR_variant,,ENST00000368171,;	1579	56	57	SUCCESS
PDXP	57026	.	GRCh37	22	38062685	38062685	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	123	46	220	1	ENST00000215904.6:c.*807T>G			ENST00000215904	NM_020315.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13953.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGCTTCTGT	NONE	.	.	.	.	.	ENSP00000215904	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000215904	Transcript	.	.	ENSG00000241360	30259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPP_HUMAN	PDXP	HGNC	B1AHD3_HUMAN	.	UPI000006D362	SNV	SH3BP1,3_prime_UTR_variant,,ENST00000599616,;PDXP,3_prime_UTR_variant,,ENST00000403251,;PDXP,3_prime_UTR_variant,,ENST00000215904,;RN7SL385P,downstream_gene_variant,,ENST00000468873,;SH3BP1,3_prime_UTR_variant,,ENST00000451997,;	1754	222	169	SUCCESS
STAM2	10254	.	GRCh37	2	152977069	152977069	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs780403657	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	17	68	0	ENST00000263904.4:c.*19C>A			ENST00000263904	NM_005843.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2196.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAAGAAAAT	NONE	.	.	.	.	.	ENSP00000263904	.	14/14	.	.	.	.	.	.	.	.	rs780403657	14/14	PASS	ENST00000263904	Transcript	.	.	ENSG00000115145	11358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STAM2_HUMAN	STAM2	HGNC	.	.	UPI0000071984	SNV	STAM2,3_prime_UTR_variant,,ENST00000263904,;STAM2,non_coding_transcript_exon_variant,,ENST00000489389,;	1947	68	24	SUCCESS
TSLP	85480	.	GRCh37	5	110407124	110407124	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs116647695	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	98	0				ENST00000344895	NM_033035.4			0	.	A:0.0121	.	A:0.0072	.	A	.	protein_coding	YES	CCDS4101.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCACGGAAAT	NONE	byFrequency|byCluster|by1000G	266	.	A:0	.	ENSP00000339804	A:0.008	.	.	.	.	.	.	.	.	.	rs116647695	.	PASS	ENST00000344895	Transcript	.	A:0.0084	ENSG00000145777	30743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0.0133	.	.	TSLP_HUMAN	TSLP	HGNC	Q96AU7_HUMAN,G3XAM8_HUMAN	.	UPI000006DB21	SNV	TSLP,5_prime_UTR_variant,,ENST00000420978,;TSLP,upstream_gene_variant,,ENST00000379706,;TSLP,upstream_gene_variant,,ENST00000344895,;	.	98	74	SUCCESS
FLT4	2324	.	GRCh37	5	180030101	180030101	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	52	0	ENST00000261937.6:c.*91T>A			ENST00000261937	NM_182925.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4457.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCAACCAG	NONE	.	.	.	.	.	ENSP00000261937	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000261937	Transcript	1	.	ENSG00000037280	3767	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR3_HUMAN	FLT4	HGNC	D6RFF2_HUMAN	.	UPI00001488E7	SNV	FLT4,3_prime_UTR_variant,,ENST00000261937,;FLT4,downstream_gene_variant,,ENST00000502649,;FLT4,downstream_gene_variant,,ENST00000393347,;FLT4,non_coding_transcript_exon_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000507059,;	4262	52	51	SUCCESS
OR2B3	442184	.	GRCh37	6	29055091	29055091	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	101	25	82	0				ENST00000377173	NM_001005226.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34358.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATTGAATA	NONE	.	1	.	.	.	ENSP00000366378	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000377173	Transcript	.	.	ENSG00000204703	8238	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2B3_HUMAN	OR2B3	HGNC	.	.	UPI0000041DB9	SNV	OR2B3,upstream_gene_variant,,ENST00000377173,;	.	82	126	SUCCESS
FUT9	10690	.	GRCh37	6	96654149	96654149	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	12	82	0	ENST00000302103.5:c.*2038G>C			ENST00000302103	NM_006581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAATGCATTA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	3444	82	34	SUCCESS
MCF2	4168	.	GRCh37	X	138728988	138728988	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs773466407	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	438	97	506	0				ENST00000370576	NM_005369.4	34		0	.	.	.	.	.	A	V/L	protein_coding	YES	CCDS55517.1	100	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTACTTCCT	NONE	.	.	SMART_domains:SM00516,Pfam_domain:PF13716,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF109,PROSITE_profiles:PS50191	.	.	ENSP00000430276	.	3/29	.	.	.	.	.	.	.	.	rs773466407	3/29	PASS	ENST00000519895	Transcript	.	.	ENSG00000101977	6940	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.208)	.	tolerated(0.21)	.	MCF2_HUMAN	MCF2	HGNC	.	.	UPI0001C33995	SNV	MCF2,missense_variant,p.Val34Leu,ENST00000520602,;MCF2,missense_variant,p.Val34Leu,ENST00000519895,;MCF2,missense_variant,p.Val34Leu,ENST00000414978,;MCF2,missense_variant,p.Val119Leu,ENST00000370578,;MCF2,upstream_gene_variant,,ENST00000370573,;MCF2,upstream_gene_variant,,ENST00000338585,;MCF2,upstream_gene_variant,,ENST00000536274,;MCF2,upstream_gene_variant,,ENST00000370576,;	266	506	535	SUCCESS
FAM133A	286499	.	GRCh37	X	92965581	92965581	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-HP-A5N0-01	TCGA-HP-A5N0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	140	75	242	1	ENST00000322139.4:c.*416A>G			ENST00000322139	NM_001171111.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14466.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTAAATAA	NONE	.	.	.	.	.	ENSP00000441389	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538690	Transcript	.	.	ENSG00000179083	26748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F133A_HUMAN	FAM133A	HGNC	.	.	UPI000006FB0A	SNV	FAM133A,3_prime_UTR_variant,,ENST00000355813,;FAM133A,3_prime_UTR_variant,,ENST00000538690,;FAM133A,3_prime_UTR_variant,,ENST00000332647,;FAM133A,3_prime_UTR_variant,,ENST00000322139,;	1724	244	216	SUCCESS
SPAG9	9043	.	GRCh37	17	49043608	49043608	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1230409962	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	59	0	ENST00000262013.7:c.*25G>A			ENST00000262013	NM_001130528.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45740.1	.	MUTECT|MUSE	.	CTTCCCCATCT	NONE	.	.	.	.	.	ENSP00000262013	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000262013	Transcript	.	.	ENSG00000008294	14524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	SNV	SPAG9,3_prime_UTR_variant,,ENST00000510283,;SPAG9,3_prime_UTR_variant,,ENST00000505279,;SPAG9,3_prime_UTR_variant,,ENST00000357122,;SPAG9,3_prime_UTR_variant,,ENST00000262013,;SPAG9,upstream_gene_variant,,ENST00000509724,;SPAG9,downstream_gene_variant,,ENST00000506500,;	4200	59	71	SUCCESS
PCDH10	57575	.	GRCh37	4	134111385	134111385	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	342	9	226	0	ENST00000264360.5:c.*70C>A			ENST00000264360	NM_032961.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34063.1	.	MUTECT|MUSE	.	CTTTTCAACTT	NONE	.	.	.	.	.	ENSP00000264360	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,3_prime_UTR_variant,,ENST00000264360,;PCDH10,intron_variant,,ENST00000511112,;	4019	226	352	SUCCESS
SOD3	6649	.	GRCh37	4	24802293	24802293	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs956300597	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	15	1	ENST00000382120.3:c.*427A>C			ENST00000382120	NM_003102.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3430.1	.	MUTECT|MUSE	.	CCCCCACCCCT	NONE	.	.	.	.	.	ENSP00000371554	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382120	Transcript	.	.	ENSG00000109610	11181	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SODE_HUMAN	SOD3	HGNC	M0R1V4_HUMAN	.	UPI000013C8A8	SNV	SOD3,3_prime_UTR_variant,,ENST00000382120,;SOD3,downstream_gene_variant,,ENST00000598411,;	1355	16	15	SUCCESS
PEG10	23089	.	GRCh37	7	94298198	94298198	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	56	0	ENST00000482108.1:c.*4352T>C			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55126.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATTGATCC	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,non_coding_transcript_exon_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	5809	56	71	SUCCESS
SPAG9	9043	.	GRCh37	17	49043608	49043608	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1230409962	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	66	4	66	0	ENST00000262013.7:c.*25G>A			ENST00000262013	NM_001130528.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45740.1	.	MUTECT|MUSE	.	CTTCCCCATCT	NONE	.	.	.	.	.	ENSP00000262013	.	30/30	.	.	.	.	.	.	.	.	.	30/30	nonpreferredpair	ENST00000262013	Transcript	.	.	ENSG00000008294	14524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	JIP4_HUMAN	SPAG9	HGNC	H0Y981_HUMAN	.	UPI0000D60DF7	SNV	SPAG9,3_prime_UTR_variant,,ENST00000510283,;SPAG9,3_prime_UTR_variant,,ENST00000505279,;SPAG9,3_prime_UTR_variant,,ENST00000357122,;SPAG9,3_prime_UTR_variant,,ENST00000262013,;SPAG9,upstream_gene_variant,,ENST00000509724,;SPAG9,downstream_gene_variant,,ENST00000506500,;	4200	66	71	SUCCESS
PCDH10	57575	.	GRCh37	4	134111385	134111385	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	342	9	249	0	ENST00000264360.5:c.*70C>A			ENST00000264360	NM_032961.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34063.1	.	MUTECT|MUSE	.	CTTTTCAACTT	NONE	.	.	.	.	.	ENSP00000264360	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,3_prime_UTR_variant,,ENST00000264360,;PCDH10,intron_variant,,ENST00000511112,;	4019	249	352	SUCCESS
PEG10	23089	.	GRCh37	7	94298198	94298198	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A5RF-01	TCGA-K7-A5RF-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	62	9	49	0	ENST00000482108.1:c.*4352T>C			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS55126.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGAATTGATCC	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,non_coding_transcript_exon_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,;	5809	49	71	SUCCESS
FBXW4	6468	.	GRCh37	10	103370971	103370971	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1435291938	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	63	0	ENST00000331272.7:c.*77T>C			ENST00000331272	NM_022039.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31271.1	.	MUTECT|MUSE	.	GAGCTATCACT	NONE	.	.	.	.	.	ENSP00000359149	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000331272	Transcript	1	.	ENSG00000107829	10847	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBXW4_HUMAN	FBXW4	HGNC	.	.	UPI000012A581	SNV	FBXW4,3_prime_UTR_variant,,ENST00000331272,;DPCD,downstream_gene_variant,,ENST00000370148,;DPCD,downstream_gene_variant,,ENST00000370151,;DPCD,downstream_gene_variant,,ENST00000370147,;DPCD,downstream_gene_variant,,ENST00000434727,;FBXW4,non_coding_transcript_exon_variant,,ENST00000470093,;DPCD,downstream_gene_variant,,ENST00000475443,;FBXW4,downstream_gene_variant,,ENST00000482428,;	1935	63	61	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17362818	17362818	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	51	0	ENST00000377602.4:c.*59C>G			ENST00000377602	NM_001004470.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31158.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGACATT	NONE	.	.	.	.	.	ENSP00000366827	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	SNV	ST8SIA6,3_prime_UTR_variant,,ENST00000377602,;ST8SIA6,intron_variant,,ENST00000440449,;	1331	51	31	SUCCESS
CXCR5	643	.	GRCh37	11	118766506	118766506	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	87	0	ENST00000292174.4:c.*1134T>A			ENST00000292174	NM_001716.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8403.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGTGAGGA	NONE	.	.	.	.	.	ENSP00000335320	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,3_prime_UTR_variant,,ENST00000334801,;CXCR5,3_prime_UTR_variant,,ENST00000292174,;BCL9L,downstream_gene_variant,,ENST00000526514,;BCL9L,downstream_gene_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000526143,;	8083	87	81	SUCCESS
CXCR5	643	.	GRCh37	11	118766691	118766691	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	27	124	0	ENST00000292174.4:c.*1319C>A			ENST00000292174	NM_001716.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8403.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCCACT	NONE	.	.	.	.	.	ENSP00000335320	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,3_prime_UTR_variant,,ENST00000334801,;CXCR5,3_prime_UTR_variant,,ENST00000292174,;BCL9L,downstream_gene_variant,,ENST00000526514,;BCL9L,downstream_gene_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000526143,;	7898	124	134	SUCCESS
LRRC10B	390205	.	GRCh37	11	61277785	61277785	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	10	73	0	ENST00000378075.2:c.*436T>G			ENST00000378075	NM_001145077.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44621.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGTGCCTG	NONE	.	.	.	.	.	ENSP00000367315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000378075	Transcript	.	.	ENSG00000204950	37215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LR10B_HUMAN	LRRC10B	HGNC	.	.	UPI00006C114B	SNV	LRRC10B,3_prime_UTR_variant,,ENST00000378075,;SYT7,downstream_gene_variant,,ENST00000263846,;MIR4488,downstream_gene_variant,,ENST00000577388,;	1514	73	93	SUCCESS
SCGB1D1	10648	.	GRCh37	11	61960969	61960969	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	45	0	ENST00000306238.3:c.*69T>C			ENST00000306238	NM_006552.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8015.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTAAAGG	NONE	.	.	.	.	.	ENSP00000303070	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000306238	Transcript	.	.	ENSG00000168515	18395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SG1D1_HUMAN	SCGB1D1	HGNC	.	.	UPI000012E869	SNV	SCGB1D1,3_prime_UTR_variant,,ENST00000306238,;	411	45	56	SUCCESS
RAB6A	5870	.	GRCh37	11	73387857	73387857	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	59	0	ENST00000336083.3:c.*1086A>G			ENST00000336083	NM_198896.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8223.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTTGTTG	NONE	.	.	.	.	.	ENSP00000311449	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000310653	Transcript	.	.	ENSG00000175582	9786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB6A_HUMAN	RAB6A	HGNC	Q9UL30_HUMAN	.	UPI000002B21A	SNV	RAB6A,3_prime_UTR_variant,,ENST00000336083,;RAB6A,3_prime_UTR_variant,,ENST00000310653,;RAB6A,downstream_gene_variant,,ENST00000540771,;RAB6A,downstream_gene_variant,,ENST00000541973,;RAB6A,downstream_gene_variant,,ENST00000536566,;RAB6A,downstream_gene_variant,,ENST00000541588,;RAB6A,downstream_gene_variant,,ENST00000537446,;RAB6A,downstream_gene_variant,,ENST00000545625,;	2215	59	64	SUCCESS
IGLON5	402665	.	GRCh37	19	51832044	51832044	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	7	76	1	ENST00000270642.8:c.*31C>T			ENST00000270642	NM_001101372.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46158.1	.	RADIA|MUTECT|VARSCANS	.	CCCTGCAGGGG	NONE	.	.	.	.	.	ENSP00000270642	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000270642	Transcript	.	.	ENSG00000142549	34550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IGLO5_HUMAN	IGLON5	HGNC	.	.	UPI000058F1A8	SNV	IGLON5,3_prime_UTR_variant,,ENST00000270642,;VSIG10L,downstream_gene_variant,,ENST00000335624,;VSIG10L,downstream_gene_variant,,ENST00000600663,;	1042	77	61	SUCCESS
MAN1A2	10905	.	GRCh37	1	118067844	118067844	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	47	0	ENST00000356554.3:c.*2265A>G			ENST00000356554	NM_006699.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS895.1	.	MUTECT|MUSE	.	ATTTGACAGGG	NONE	.	.	.	.	.	ENSP00000348959	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000356554	Transcript	.	.	ENSG00000198162	6822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MA1A2_HUMAN	MAN1A2	HGNC	.	.	UPI0000052B45	SNV	MAN1A2,3_prime_UTR_variant,,ENST00000422329,;MAN1A2,3_prime_UTR_variant,,ENST00000356554,;MAN1A2,downstream_gene_variant,,ENST00000421535,;	4926	47	34	SUCCESS
PRND	23627	.	GRCh37	20	4706074	4706074	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	98	0	ENST00000305817.2:c.*346A>G			ENST00000305817	NM_012409.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13081.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATAAGGAAA	NONE	.	.	.	.	.	ENSP00000306900	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305817	Transcript	.	.	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,3_prime_UTR_variant,,ENST00000305817,;	948	98	122	SUCCESS
PCDHB14	56122	.	GRCh37	5	140603055	140603055	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs782565299	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	65	0				ENST00000239449	NM_018934.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4256.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCACAAGA	NONE	.	23	.	.	.	ENSP00000239449	.	.	.	.	.	.	.	.	.	.	rs782565299	.	PASS	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	SNV	PCDHB14,5_prime_UTR_variant,,ENST00000515856,;PCDHB14,upstream_gene_variant,,ENST00000239449,;	.	65	68	SUCCESS
HIST1H2BG	0	.	GRCh37	6	26216460	26216460	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	10	36	1	ENST00000244601.3:c.*31G>T			ENST00000244601	NM_003518.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4594.1	.	MUTECT|VARSCANS	.	AAGAGCCTTTG	NONE	.	.	.	.	.	ENSP00000244601	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244601	Transcript	.	.	ENSG00000187990	4746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BG	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BG,3_prime_UTR_variant,,ENST00000244601,;HIST1H2AE,upstream_gene_variant,,ENST00000303910,;	413	37	62	SUCCESS
PRIM2	5558	.	GRCh37	6	57472389	57472389	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs770351420	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	12	167	0	ENST00000607273.1:c.*137T>G			ENST00000607273	NM_000947.3			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AGAGCTGCTGA	NONE	.	.	.	.	.	ENSP00000475738	.	12/14	.	.	.	.	.	.	.	.	rs770351420	12/14	PASS	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,3_prime_UTR_variant,,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;	1265	167	214	SUCCESS
ZNF789	285989	.	GRCh37	7	99085123	99085123	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	93	0	ENST00000331410.5:c.*12A>C			ENST00000331410	NM_213603.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34693.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAAAGCAG	NONE	.	.	.	.	.	ENSP00000331927	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000331410	Transcript	.	.	ENSG00000198556	27801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN789_HUMAN	ZNF789	HGNC	.	.	UPI00001D74C1	SNV	ZNF789,3_prime_UTR_variant,,ENST00000331410,;ZNF789,intron_variant,,ENST00000493485,;ZNF789,downstream_gene_variant,,ENST00000448667,;ZNF394,intron_variant,,ENST00000462024,;ZNF789,intron_variant,,ENST00000494186,;ZNF789,downstream_gene_variant,,ENST00000481472,;ZNF789,downstream_gene_variant,,ENST00000481108,;ZNF789,downstream_gene_variant,,ENST00000447047,;	1560	93	90	SUCCESS
SLC24A2	25769	.	GRCh37	9	19516054	19516054	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	49	0	ENST00000341998.2:c.*97A>T			ENST00000341998	NM_001193288.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6493.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTGTGTG	NONE	.	.	.	.	.	ENSP00000344801	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,3_prime_UTR_variant,,ENST00000341998,;SLC24A2,3_prime_UTR_variant,,ENST00000286344,;	2145	49	45	SUCCESS
FBXW4	6468	.	GRCh37	10	103370971	103370971	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1435291938	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	57	4	73	0	ENST00000331272.7:c.*77T>C			ENST00000331272	NM_022039.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31271.1	.	MUTECT|MUSE	.	GAGCTATCACT	NONE	.	.	.	.	.	ENSP00000359149	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000331272	Transcript	1	.	ENSG00000107829	10847	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBXW4_HUMAN	FBXW4	HGNC	.	.	UPI000012A581	SNV	FBXW4,3_prime_UTR_variant,,ENST00000331272,;DPCD,downstream_gene_variant,,ENST00000370148,;DPCD,downstream_gene_variant,,ENST00000370151,;DPCD,downstream_gene_variant,,ENST00000370147,;DPCD,downstream_gene_variant,,ENST00000434727,;FBXW4,non_coding_transcript_exon_variant,,ENST00000470093,;DPCD,downstream_gene_variant,,ENST00000475443,;FBXW4,downstream_gene_variant,,ENST00000482428,;	1935	73	61	SUCCESS
ST8SIA6	338596	.	GRCh37	10	17362818	17362818	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	4	25	0	ENST00000377602.4:c.*59C>G			ENST00000377602	NM_001004470.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31158.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAGACATT	NONE	.	.	.	.	.	ENSP00000366827	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000377602	Transcript	.	.	ENSG00000148488	23317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SIA8F_HUMAN	ST8SIA6	HGNC	.	.	UPI0000359594	SNV	ST8SIA6,3_prime_UTR_variant,,ENST00000377602,;ST8SIA6,intron_variant,,ENST00000440449,;	1331	25	31	SUCCESS
CXCR5	643	.	GRCh37	11	118766506	118766506	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	14	97	0	ENST00000292174.4:c.*1134T>A			ENST00000292174	NM_001716.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8403.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGTGAGGA	NONE	.	.	.	.	.	ENSP00000335320	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,3_prime_UTR_variant,,ENST00000334801,;CXCR5,3_prime_UTR_variant,,ENST00000292174,;BCL9L,downstream_gene_variant,,ENST00000526514,;BCL9L,downstream_gene_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000526143,;	8083	97	81	SUCCESS
CXCR5	643	.	GRCh37	11	118766691	118766691	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	107	27	104	0	ENST00000292174.4:c.*1319C>A			ENST00000292174	NM_001716.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8403.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCCCACT	NONE	.	.	.	.	.	ENSP00000335320	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000334801	Transcript	.	.	ENSG00000186174	23688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BCL9L_HUMAN	BCL9L	HGNC	E9PNR0_HUMAN	.	UPI0000192102	SNV	BCL9L,3_prime_UTR_variant,,ENST00000334801,;CXCR5,3_prime_UTR_variant,,ENST00000292174,;BCL9L,downstream_gene_variant,,ENST00000526514,;BCL9L,downstream_gene_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000526143,;	7898	104	134	SUCCESS
LRRC10B	390205	.	GRCh37	11	61277785	61277785	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	83	10	78	0	ENST00000378075.2:c.*436T>G			ENST00000378075	NM_001145077.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44621.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGCGTGCCTG	NONE	.	.	.	.	.	ENSP00000367315	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000378075	Transcript	.	.	ENSG00000204950	37215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LR10B_HUMAN	LRRC10B	HGNC	.	.	UPI00006C114B	SNV	LRRC10B,3_prime_UTR_variant,,ENST00000378075,;SYT7,downstream_gene_variant,,ENST00000263846,;MIR4488,downstream_gene_variant,,ENST00000577388,;	1514	78	93	SUCCESS
SCGB1D1	10648	.	GRCh37	11	61960969	61960969	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	8	39	0	ENST00000306238.3:c.*69T>C			ENST00000306238	NM_006552.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8015.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTAAAGG	NONE	.	.	.	.	.	ENSP00000303070	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000306238	Transcript	.	.	ENSG00000168515	18395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SG1D1_HUMAN	SCGB1D1	HGNC	.	.	UPI000012E869	SNV	SCGB1D1,3_prime_UTR_variant,,ENST00000306238,;	411	39	56	SUCCESS
RAB6A	5870	.	GRCh37	11	73387857	73387857	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	59	0	ENST00000336083.3:c.*1086A>G			ENST00000336083	NM_198896.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8223.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTCTTTTGTTG	NONE	.	.	.	.	.	ENSP00000311449	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000310653	Transcript	.	.	ENSG00000175582	9786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB6A_HUMAN	RAB6A	HGNC	Q9UL30_HUMAN	.	UPI000002B21A	SNV	RAB6A,3_prime_UTR_variant,,ENST00000336083,;RAB6A,3_prime_UTR_variant,,ENST00000310653,;RAB6A,downstream_gene_variant,,ENST00000540771,;RAB6A,downstream_gene_variant,,ENST00000541973,;RAB6A,downstream_gene_variant,,ENST00000536566,;RAB6A,downstream_gene_variant,,ENST00000541588,;RAB6A,downstream_gene_variant,,ENST00000537446,;RAB6A,downstream_gene_variant,,ENST00000545625,;	2215	59	64	SUCCESS
TRIM49D1	399939	.	GRCh37	11	89644662	89644662	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs896736171	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	15	10	0	ENST00000420869.1:c.*93C>G			ENST00000420869	NM_001206627.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS60930.1	.	RADIA|SOMATICSNIPER	.	AGAACGTATTT	NONE	.	.	.	.	.	ENSP00000474850	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000530311	Transcript	.	.	ENSG00000223417	43973	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	T49D1_HUMAN	TRIM49D1	HGNC	.	.	UPI00006C117A	SNV	TRIM49D1,3_prime_UTR_variant,,ENST00000530311,;TRIM49D1,3_prime_UTR_variant,,ENST00000420869,;MTND1P35,downstream_gene_variant,,ENST00000526739,;	1781	10	19	SUCCESS
IGLON5	402665	.	GRCh37	19	51832044	51832044	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	56	8	65	0	ENST00000270642.8:c.*31C>T			ENST00000270642	NM_001101372.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46158.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGCAGGGG	NONE	.	.	.	.	.	ENSP00000270642	.	8/8	.	.	.	.	.	.	.	.	.	8/8	nonpreferredpair	ENST00000270642	Transcript	.	.	ENSG00000142549	34550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IGLO5_HUMAN	IGLON5	HGNC	.	.	UPI000058F1A8	SNV	IGLON5,3_prime_UTR_variant,,ENST00000270642,;VSIG10L,downstream_gene_variant,,ENST00000335624,;VSIG10L,downstream_gene_variant,,ENST00000600663,;	1042	65	64	SUCCESS
MAN1A2	10905	.	GRCh37	1	118067844	118067844	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	4	43	0	ENST00000356554.3:c.*2265A>G			ENST00000356554	NM_006699.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS895.1	.	MUTECT|MUSE	.	ATTTGACAGGG	NONE	.	.	.	.	.	ENSP00000348959	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000356554	Transcript	.	.	ENSG00000198162	6822	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MA1A2_HUMAN	MAN1A2	HGNC	.	.	UPI0000052B45	SNV	MAN1A2,3_prime_UTR_variant,,ENST00000422329,;MAN1A2,3_prime_UTR_variant,,ENST00000356554,;MAN1A2,downstream_gene_variant,,ENST00000421535,;	4926	43	34	SUCCESS
PRND	23627	.	GRCh37	20	4706074	4706074	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	109	12	103	0	ENST00000305817.2:c.*346A>G			ENST00000305817	NM_012409.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13081.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATAAGGAAA	NONE	.	.	.	.	.	ENSP00000306900	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000305817	Transcript	.	.	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,3_prime_UTR_variant,,ENST00000305817,;	948	103	122	SUCCESS
PCDHB14	56122	.	GRCh37	5	140603055	140603055	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs782565299	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	10	55	0				ENST00000239449	NM_018934.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4256.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCACAAGA	NONE	.	23	.	.	.	ENSP00000239449	.	.	.	.	.	.	.	.	.	.	rs782565299	.	nonpreferredpair	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	SNV	PCDHB14,5_prime_UTR_variant,,ENST00000515856,;PCDHB14,upstream_gene_variant,,ENST00000239449,;	.	55	68	SUCCESS
HIST1H2BG	0	.	GRCh37	6	26216460	26216460	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	11	48	0	ENST00000244601.3:c.*31G>T			ENST00000244601	NM_003518.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4594.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGCCTTTG	NONE	.	.	.	.	.	ENSP00000244601	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000244601	Transcript	.	.	ENSG00000187990	4746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BG	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BG,3_prime_UTR_variant,,ENST00000244601,;HIST1H2AE,upstream_gene_variant,,ENST00000303910,;	413	48	68	SUCCESS
PRIM2	5558	.	GRCh37	6	57472389	57472389	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs770351420	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	202	12	163	0	ENST00000607273.1:c.*137T>G			ENST00000607273	NM_000947.3			0	.	.	.	.	.	G	.	protein_coding	YES	.	.	MUTECT|MUSE	.	AGAGCTGCTGA	NONE	.	.	.	.	.	ENSP00000475738	.	12/14	.	.	.	.	.	.	.	.	rs770351420	12/14	nonpreferredpair	ENST00000607273	Transcript	.	.	ENSG00000146143	9370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	PRIM2	HGNC	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN	.	UPI00004588DE	SNV	PRIM2,3_prime_UTR_variant,,ENST00000607273,;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;	1265	163	214	SUCCESS
ZNF789	285989	.	GRCh37	7	99085123	99085123	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	10	87	0	ENST00000331410.5:c.*12A>C			ENST00000331410	NM_213603.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34693.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTGGAAAGCAG	NONE	.	.	.	.	.	ENSP00000331927	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000331410	Transcript	.	.	ENSG00000198556	27801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN789_HUMAN	ZNF789	HGNC	.	.	UPI00001D74C1	SNV	ZNF789,3_prime_UTR_variant,,ENST00000331410,;ZNF789,intron_variant,,ENST00000493485,;ZNF789,downstream_gene_variant,,ENST00000448667,;ZNF394,intron_variant,,ENST00000462024,;ZNF789,intron_variant,,ENST00000494186,;ZNF789,downstream_gene_variant,,ENST00000481472,;ZNF789,downstream_gene_variant,,ENST00000481108,;ZNF789,downstream_gene_variant,,ENST00000447047,;	1560	87	90	SUCCESS
SLC24A2	25769	.	GRCh37	9	19516054	19516054	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-K7-A5RG-01	TCGA-K7-A5RG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	6	48	0	ENST00000341998.2:c.*97A>T			ENST00000341998	NM_001193288.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6493.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGCTGTGTG	NONE	.	.	.	.	.	ENSP00000344801	.	10/10	.	.	.	.	.	.	.	.	.	10/10	nonpreferredpair	ENST00000341998	Transcript	.	.	ENSG00000155886	10976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NCKX2_HUMAN	SLC24A2	HGNC	.	.	UPI000004FA46	SNV	SLC24A2,3_prime_UTR_variant,,ENST00000341998,;SLC24A2,3_prime_UTR_variant,,ENST00000286344,;	2145	48	45	SUCCESS
FBXO34	55030	.	GRCh37	14	55819453	55819453	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	8	40	0	ENST00000313833.4:c.*209A>C			ENST00000313833	NM_017943.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32086.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	GTTTGAACCCG	NONE	.	.	.	.	.	ENSP00000313159	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313833	Transcript	.	.	ENSG00000178974	20201	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FBX34_HUMAN	FBXO34	HGNC	G3V2U9_HUMAN	.	UPI00001FD5AD	SNV	FBXO34,3_prime_UTR_variant,,ENST00000440021,;FBXO34,3_prime_UTR_variant,,ENST00000313833,;FBXO34,intron_variant,,ENST00000557647,;FBXO34,downstream_gene_variant,,ENST00000555087,;FBXO34,downstream_gene_variant,,ENST00000554940,;FBXO34,3_prime_UTR_variant,,ENST00000555280,;	2590	41	31	SUCCESS
ERF	2077	.	GRCh37	19	42752480	42752480	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	8	0	ENST00000222329.4:c.*137A>G			ENST00000222329	NM_006494.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12600.1	.	MUTECT|MUSE	.	TTTTATACAAA	NONE	.	.	.	.	.	ENSP00000222329	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000222329	Transcript	1	.	ENSG00000105722	3444	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERF_HUMAN	ERF	HGNC	M0QXN0_HUMAN,B7Z6N1_HUMAN,B7Z4R0_HUMAN	.	UPI000000106F	SNV	ERF,3_prime_UTR_variant,,ENST00000222329,;ERF,3_prime_UTR_variant,,ENST00000440177,;AC006486.9,intron_variant,,ENST00000594664,;AC006486.1,downstream_gene_variant,,ENST00000378108,;ERF,downstream_gene_variant,,ENST00000598965,;ERF,downstream_gene_variant,,ENST00000593944,;ERF,downstream_gene_variant,,ENST00000595941,;ERF,downstream_gene_variant,,ENST00000596818,;ERF,downstream_gene_variant,,ENST00000595448,;	1942	8	11	SUCCESS
LRIG2	9860	.	GRCh37	1	113666804	113666804	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	19	0	ENST00000361127.5:c.*81G>T			ENST00000361127	NM_014813.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30808.1	.	MUTECT|MUSE	.	ACTCCGAAGTC	NONE	.	.	.	.	.	ENSP00000355396	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000361127	Transcript	.	.	ENSG00000198799	20889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRIG2_HUMAN	LRIG2	HGNC	.	.	UPI000006F613	SNV	LRIG2,3_prime_UTR_variant,,ENST00000361127,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;RLIMP2,downstream_gene_variant,,ENST00000427891,;	3477	19	22	SUCCESS
INSM1	3642	.	GRCh37	20	20351329	20351329	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	19	75	0	ENST00000310227.1:c.*885G>T			ENST00000310227	NM_002196.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13143.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCGTTTTA	NONE	.	.	.	.	.	ENSP00000312631	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000310227	Transcript	.	.	ENSG00000173404	6090	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM1_HUMAN	INSM1	HGNC	.	.	UPI0000046C2F	SNV	INSM1,3_prime_UTR_variant,,ENST00000310227,;	2565	75	73	SUCCESS
METTL5	29081	.	GRCh37	2	170668325	170668325	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs766329392	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	240	70	367	0	ENST00000260953.5:c.*5C>T			ENST00000260953	NM_014168.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33320.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGGGGCTTT	NONE	.	.	.	.	.	ENSP00000260953	.	7/7	.	.	.	.	.	.	.	.	rs766329392	7/7	PASS	ENST00000260953	Transcript	.	.	ENSG00000138382	25006	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	METL5_HUMAN	METTL5	HGNC	B8ZZE3_HUMAN	.	UPI0000071529	SNV	METTL5,3_prime_UTR_variant,,ENST00000260953,;METTL5,3_prime_UTR_variant,,ENST00000308099,;METTL5,3_prime_UTR_variant,,ENST00000409965,;METTL5,3_prime_UTR_variant,,ENST00000442181,;METTL5,3_prime_UTR_variant,,ENST00000392640,;METTL5,3_prime_UTR_variant,,ENST00000409340,;SSB,3_prime_UTR_variant,,ENST00000260956,;METTL5,3_prime_UTR_variant,,ENST00000410097,;SSB,3_prime_UTR_variant,,ENST00000409333,;METTL5,intron_variant,,ENST00000409837,;SSB,downstream_gene_variant,,ENST00000417292,;SSB,downstream_gene_variant,,ENST00000422006,;METTL5,downstream_gene_variant,,ENST00000538491,;U3,upstream_gene_variant,,ENST00000517172,;METTL5,3_prime_UTR_variant,,ENST00000537825,;METTL5,non_coding_transcript_exon_variant,,ENST00000484351,;SSB,downstream_gene_variant,,ENST00000468600,;SSB,downstream_gene_variant,,ENST00000494051,;SSB,downstream_gene_variant,,ENST00000490914,;SSB,downstream_gene_variant,,ENST00000474273,;SSB,downstream_gene_variant,,ENST00000413002,;SSB,downstream_gene_variant,,ENST00000470621,;SSB,downstream_gene_variant,,ENST00000465871,;	952	367	311	SUCCESS
DBR1	51163	.	GRCh37	3	137880610	137880610	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	31	0	ENST00000260803.4:c.*121G>T			ENST00000260803	NM_016216.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33863.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGAACCTGGG	NONE	.	.	.	.	.	ENSP00000260803	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000260803	Transcript	.	.	ENSG00000138231	15594	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DBR1_HUMAN	DBR1	HGNC	F5GWV2_HUMAN	.	UPI000006DFC5	SNV	DBR1,3_prime_UTR_variant,,ENST00000260803,;DBR1,3_prime_UTR_variant,,ENST00000505015,;DBR1,downstream_gene_variant,,ENST00000460271,;DBR1,downstream_gene_variant,,ENST00000477557,;	1910	31	25	SUCCESS
SOX2	6657	.	GRCh37	3	181431520	181431520	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	130	56	239	0	ENST00000325404.1:c.*418T>G			ENST00000325404	NM_003106.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3239.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATATTTAGAG	NONE	.	.	.	.	.	ENSP00000323588	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000325404	Transcript	.	.	ENSG00000181449	11195	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX2_HUMAN	SOX2	HGNC	.	.	UPI000003F545	SNV	SOX2,3_prime_UTR_variant,,ENST00000325404,;SOX2,downstream_gene_variant,,ENST00000431565,;SOX2-OT,intron_variant,,ENST00000498731,;SOX2-OT,intron_variant,,ENST00000595287,;SOX2-OT,intron_variant,,ENST00000593549,;SOX2-OT,intron_variant,,ENST00000597828,;SOX2-OT,intron_variant,,ENST00000493521,;SOX2-OT,intron_variant,,ENST00000593330,;SOX2-OT,intron_variant,,ENST00000477928,;SOX2-OT,intron_variant,,ENST00000600778,;SOX2-OT,intron_variant,,ENST00000596250,;SOX2-OT,intron_variant,,ENST00000600386,;SOX2-OT,intron_variant,,ENST00000598474,;SOX2-OT,intron_variant,,ENST00000476964,;SOX2-OT,intron_variant,,ENST00000492337,;SOX2-OT,intron_variant,,ENST00000466034,;SOX2-OT,intron_variant,,ENST00000491282,;SOX2-OT,intron_variant,,ENST00000498226,;SOX2-OT,intron_variant,,ENST00000599082,;SOX2-OT,intron_variant,,ENST00000469278,;SOX2-OT,intron_variant,,ENST00000600801,;SOX2-OT,intron_variant,,ENST00000597651,;SOX2-OT,downstream_gene_variant,,ENST00000600962,;SOX2-OT,downstream_gene_variant,,ENST00000476125,;	1799	239	186	SUCCESS
EIF4E	1977	.	GRCh37	4	99850252	99850252	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs764172724	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	50	0				ENST00000280892	NM_001130678.1			0	.	.	.	.	.	A	V	protein_coding	YES	CCDS54779.1	12	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTTCGACAGT	NONE	.	.	Gene3D:3.30.760.10	.	.	ENSP00000425561	.	1/8	.	.	.	.	.	.	.	.	rs764172724	1/8	PASS	ENST00000505992	Transcript	1	.	ENSG00000151247	3287	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF4E_HUMAN	EIF4E	HGNC	D6RFJ3_HUMAN	.	UPI00017BAF0A	SNV	EIF4E,synonymous_variant,p.%3D,ENST00000450253,;EIF4E,synonymous_variant,p.%3D,ENST00000505992,;EIF4E,coding_sequence_variant,p.%3D,ENST00000511644,;EIF4E,5_prime_UTR_variant,,ENST00000504432,;EIF4E,upstream_gene_variant,,ENST00000280892,;AC019131.1,downstream_gene_variant,,ENST00000459306,;RP11-571L19.7,intron_variant,,ENST00000583654,;EIF4E,non_coding_transcript_exon_variant,,ENST00000418385,;EIF4E,non_coding_transcript_exon_variant,,ENST00000504472,;EIF4E,synonymous_variant,p.%3D,ENST00000515638,;EIF4E,non_coding_transcript_exon_variant,,ENST00000507665,;	33	50	43	SUCCESS
SLC12A2	6558	.	GRCh37	5	127522409	127522409	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	40	0	ENST00000262461.2:c.*86C>T			ENST00000262461	NM_001046.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4144.1	.	MUTECT|MUSE	.	CATCACAATGG	NONE	.	.	.	.	.	ENSP00000262461	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000262461	Transcript	.	.	ENSG00000064651	10911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S12A2_HUMAN	SLC12A2	HGNC	Q53ZR1_HUMAN	.	UPI000013541A	SNV	SLC12A2,3_prime_UTR_variant,,ENST00000343225,;SLC12A2,3_prime_UTR_variant,,ENST00000262461,;SLC12A2,downstream_gene_variant,,ENST00000507791,;SLC12A2,3_prime_UTR_variant,,ENST00000509205,;SLC12A2,downstream_gene_variant,,ENST00000502849,;	3914	40	51	SUCCESS
PCDHA8	0	.	GRCh37	5	140214367	140228479	1	splice_donor_variant	Splice_Site	DEL	CCCAGCGACACAAAGGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCACCTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATGTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTAGTTCAATTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTTATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAATTATTTGGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGATCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGAGGACTTTGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAATCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAATGTTATAGTAAACAAATTTAATATATATGTTACCTAATATTTTATTCTATGTATTGTCCTCATTTTATAAAATATAGCTGTGTCAAAATCATCTGTTCAATTTTGCCTTTTTATCTTTAGTCTAGAACTTGAATTTTAAGCATTTCTTTTACATCTATTTATCTTCTTTTTATCATATTTGTGTAGCACTGACTTCTTTTTAACTTACTTTGTTGAGATGTATTTGCCATGTTCATGAAGAATTAATATGAACAATTTAAAATAGTTTAAATGGCAGTTTAATAGTATTTTTTATTTTGTTCCTTGTTTGTATAAGAAATATATTCACATTCAAAATTTCAAAGAGTGAAATCTAGTACGTAGTAAAAAATCTCCTTGCCTCCTCAAACCCCAAACCATTTACTTTACCTTTCTGAATTTCTGAAGCAGTTTACTTTTTTTGTATATTCCCAAGATTATTATTGCCAAATTATATAAATATATTTACAATCACCAAATTGTAAATCGCCAATATATATATTTTATAATTTGCCCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTCCTTTTTCTTTCATTCTTTTTCTTTTTTCTTTCTTCTTTCAAGACACGCTCTCACTCCATCACCCAGGCTGCTGAAATGCAGTGGTGGGATTATAGCCCACTGCAACCTGAAAGTCCTGGGCTCACAGGATCCTCCCATCTCAGCCTCTGGAGTAGCTGGGAATACAGTTTGCATGTCATTGTGCCTGGCTAATTTTATTTTATTTTTGTAGAGACAGGGTGGAGTCTTGTTTCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGTATTGGGATTACAGACACGAACAACCACACCCAGCCTGCCTTTCATCTTTCCTTTTTTTTAAAAAAAGAAGTGATTACAGTAGAAACCTACCTTTCTGCACTTTTTGGTTTTCCACTTTAAGTTATATATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGACAGAGTTTTACTCTGTCGCCCTCTCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAAATCCGCCTCTCTGGTACAAGCAGTTCTCATGCCTCAGTCTCCCAAGTAGCTGGGATTAAAGACGCCAACAACCAAGCCATGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCATGTTGCCCCGGCTGGTCTCGAAATCTGGGACTCAAGTGATCTGACTGCCTCAGCCTCCCAATGTGCTGGGATTACAGGAGTGAGCCACCGCATCCGGCCTAAATTATATATTGGGTTTTGTGGCATATTATTTCATTAGCGCTTATTCCTTGTTTTTGATTATTTGCTTTCTTATTTTTAAAAGTATTTGCATCTTATTTTCTTTTATGGATATATCATGATTTATTCATCCAGTACTGTATTAGGGACATTAATGAAACAATAACCGAATTGTCTAGACTTTTAAAAATTTTTTACAAATAATTTGGTTGGTCAAAAAAATGATAGTTAACGGGGCATGGTGGCACACACCTTTAACCCCAACATTTCGGGAGGCCGAGGCAGGAGGATTGCTTCAGTCTAGTAGTTTGAGACCAGCTTGTGCATCTTTTGTAGAGACTTTGTAAAATTAGCTATGCATGGTGATGCATGTCTGTAGTTTCAGCTACTCAAGAAACTGAGGTGGGAGGATCACTTAAGCCAGGGAGGTCCAAGCTGCAGTTATCATGCCACTGAACTCCAGCCTAGGTGACAGAGCAATACCTTGCCTCAAAAATAAAATAAAATGAAATAATAAAATAAAATAAAATAAAAACCCAGAACTGACAATTTTCACTGTTCCTAATATTCTAATATACTTTAGTAAATTATTTTAGGATATGTTACTGTTTTCTTTTCAACGTGAATAAGGATAGAGGTATGCAAAGTCAAAAACCTGTCTGATAATCAATAGAATTATTTACCATTAAGCCATAATATGTCATTCACATAAGCAGACCAAGTTTGCTGCTCTTGTTGAAAGATATTCAGTTTTGTGGAAAAATCTATAAATATCTTTGACCTTCAAAGATGTAACTGTAATCTGTTTTTATTGCTTTGCTTTTATGCTTACATGCATGTATATTTAAAACCTTCCTAGCATATTATTAAAGTTTTAAATATCCTATTTATATTGGGAAATACCTGAAGTTGATAGGGGATCCTCCTTAGCCACCTAAGCTGTATTCATCAATTATTATGATGATGATGATGATTATTATTTTTGAGACAGGGTCTCACTCTGTAGCCCAGACTGCAGTGCAGTGGCACAATCTGGGCTTACTGCAATCTCTGCCTCCTGGGCTCAAGTGATCTTCCTACCTCAGCCTCTCAAGTTGCTGGGACTATAGGCACACACCACCATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGATATCGAGAAATACTATTTTCTTTACAAATTGTTTGCTACTATTTAGAGTCAACTACAGAGATTTTTTTGGGTAAATAATGTGATGACAAATTTAAATCATTTCACAGAAAATACCCTTATTTGCCTTTCCTATTTAACCTACGTTTTTGGTAAGAATTTTGTAGAAATTTGGAGGAGCTCTTAATTGCCTACTATGAAGGCATTCATGATGAATCCATGGAGAATTTACTTTTGAGGTGGACTTTGAAAGATGAATAGAATTTTGACAGAAAAAGATGAAGTAATAGAAGAAAAACCTTGAACAAAGAGTGTGCCAAGAAGGAGACAACATATTTTCTGTAAAATATGACTCCTATTGGAAAGTGGTTAGCCTTAGCACTGAGAAGATTGGCTCATGGTCACGTAGCGTATCTCCCAGATGGAAGTCTAATGTCTTGACAATTAGTCAATAGAAAGATAAACTTGTTGAAGATTTTAGTGAAATCGAGTGAAAGCTGTACTAATAAGGACAGAAATTATCACACGTGAAAGGAGAGATGGGATGTATACAAATTTTAAATATGGTAGGCAAAGGAAAAGAAGTCATAAAAATACATATGAGTAAATGTGGAGAATCACTATGCTATAAAAATTGTGATTTTTTAATGATTTGGGTTTTGGGTGATTATTGATTAGATATTCTTTTAACTTTGGTCGACTCATTTTCTAGGCAATGTTAGGGTATACAGGTAAAAATGTCAGGTAGAAAATGAAAATAGGGGGTTGCAGATATGGAGTTAAGAATACTTCAAATAATAGGCTAGTTTAAAGCCGTGGAAATAGAAACGTTAAATAAAAAGTTGGGGAAAAAAGTTTAAAGGCATAATTCTGGTAAATACTCACTTTTTGGAGCAGAAGAAAGATGAAGAACTAACAAGCCAATGATGGCAATACTGCTAGAGTTTGGCATGTCAGAGAAATCATAAAGGAAAATGTTTTAAGTGAGAGGCTGAATTTAACAAGCTATAGAGATATAGAGAAATAGTGTAAAGAATATGCACATACATTTTTATTACTTTAGTAAATAAAACGGTTCAGGCAATTTGACATTTATTGAATAAAGAAAAGCAAAAATTTAACAATAAGAACACAAGAAGATAAAATGTAGAAAAGTTAGAATTATATGCTCACCTCAGAGTAATATATACCAGTGTTTCTGGTGACCAAATAAATATTAATGCATTTCTTCCACACGAAACTATGGAGGACAGTTTACATTTCTGATATCCATGACATACAGGTCATACTTAAATTTATTATTAATTGATACGATATTTGAAATATTGGGAAGAAATTCCTTTCCTTATGAAGAAGAAATCCCTAGCTGAAACTAATGTAAGGAGCCAGACAGTATGAATGCCTCTGCAATTGATAAAGTTAAGGATTTACTATTAAATTATGATAAAGAAATAGAAAGTGCATAGAAGAACCCAGATATTGCGGAAGTAATTCATGTAATCATTACCTTTTGAAGCCACATGATGTCGCTGTCTACCAAGAAGTTCTGGTTGGTCAATGTTCAAAGTCTTTTCTCTGACAGCATCTGTCTCTAAAGGCCGAACAACGGGAGATGCAGCGGAATTGGATTAAAAGACTCTGAAAGTACAGTCGTTCATCTTTATATTAAGATAATATTTTCTGATAGGAAACGACTATTTAACATGGATTATCACTGGCGAGGAGAGCTGGGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAAGTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGATGTTAATGACAACCCGCCAGTGTTCCGGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCGTATTAAGAAAATCCTTGGACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCAAACTGAATGCTTCTGATCCGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCTGGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCAGCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTGATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAACTCATAAATTCTATTTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGATTTAGTTTTTCACCGTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTTTAGAAACCTTTTATAATTAATTGAATTTTCTCAGTGGCATAATACAGTATTAATCATTCTCCACAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGGATGATATCCATTTTTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGTCTTCTCTGAACAATACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTGAAAGTATTCCCCCAAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCTTAATCTTACTCCATATGCTGTACTTTGAAATGCATGTTTTAAATATGTTGTCTTTATATTTACTTTTATTCACTTTAAGATCTCGGTTTATTCATCTTATCTGACTTTTTAGTGTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATTGCCGTTTTAAGCAGTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAAAATTTGATAGTTTTCATATTCTTCCTAATTTTATTATAAACTAGTTAAAAAGTAAAATCAAGAGGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATTTAGACCATTTTACCATTTGGAGACATGTTTTTTATTCTACATGATTTTTACAGTTGTATTGTCGCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAAATGATTACTTTATTCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCCTTTGTTCATGAGTTGGAATATTTTCAATAATATTCCACATTAAAGTGATATTTAATATATGACTTAGAAAAATGTTTTCATCAGAAAAACTATACATGATAATTTCATTCTTGCAAACCAAACATATAATTTATAAATCCTTATTATACAGAATATTTGGGATTATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTATTATGGGATAAATCTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTTCAACATTTTCTTTCTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCTTGTGACTGTTGGACCTGCCTGGATATTAAATACCCATTAGACTTCGTGCATATTGCTTTGGAGAGAATGGTAGAAATTGATGGAAGGGAATGAACGATTTCTGGGACTCTGAATTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTTTAATCACTTATGAACAAATAATGTAATCATTTATGGGCATATTTTAGCCCCCTTGTCCAACTGAAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATTTTACAGTTCTCTTAATGCCTGTCCATGTTTAGCATTTTATTTGACTATTTGAACACATTGTGTAAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAATATGATTGTTTTCATTTAAGTCCTTTTAAAAAATATGATTATCTTTATTATCCTGTTTGAATAATATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCCTGTCTATGTCTACCTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCCTAAACATTTAATTGACTTTTACAAAATATCATAAATAGGAGGATTCTTTCCACCACCTAGCATTGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTCTGTTTTTCTTCAACTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAGTGAGAAAGTCTAAACCTATTTCTTGTACATTAATACTTTTCACTATTCTAATTATGGTGATGCTTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTCAGAAGTTAGTTATTAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTCCTCCCTTTACCAATTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTATTCAGTTCCTTGGCATTATATGTATGCATGATAAATGTGAATTCTACTTTATAGATTTATTTGTATCAAGTAAGTTAATAGTTATAAATTATTAATAATAAACTCTGGCAAGTGATAGGTACATAATAAAATTTAGTTATTACCATTCTTAAGAGAAAAGAAGTTAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAGTCGTTATGGCCTTCCATATTAATCTTATTTTTGTGTAAAACTATCTTCTGTAAAGTCATTTTTTAGATTAACCTAGGATGTTTCAATATTTTGAATGTTGTGTGGTGGAATGAAAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCAAGTTAACACCACCTATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCCTTCCAAGGAATGTGTAGACTATCTTACTTTGATAGTTGTATGTTTCCCATATTTAAAAGTTGCCTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTTCTTTGTATGTATGAGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAGTATACAATAATGTTTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTCTATGAATTAAGTAAACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAAGTGCTTTCTCTTTTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTAGCAAGTAGAGAAGATTGTAATAACCAGTCTTCATTAAACATTAAATAGGACCCTTACAGATCTCTAACAGCATATCATCATGTCAGGAATTATTACTGAGCCCCAGCCCCTGGCTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCACACAATGCAAGGCAAGATAATGTAACAGGTACAAGAGGTAAATCAGAATGACGTTGAAGTTGAAAGACAATCATTTCCTATTTGAATTTTTGAAGAAATACTTGAAGGGGCATGGTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCCCGGGAGAATATTGAGAATGATAGACATTTCTTGGAAAGAGAAAACATAAGGAAAGTTGAAGACACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACTTTGGTTAAAACACACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTAAGAAGATCTCTTGATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTAAGGAATTTGGCCACTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTGAGCAAAATAAATCACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACTCAGAAGCTCCTGCAGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTCTTAGGCTGTTATCAGTAGAAATACGAAATAAAAGATAAATATGCAAAAACATTAATGGCACAATAAACACTCACGGTTTTGCCTTTAGACTTGAGATACACTAAAATCTAGATTTAATTAATCGACTTGGACGTTGGAATAAGATAGTAAAACTCACAACAAAACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCATAGCTTTAAAAACAGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGAAATTAAAACATATTGTAATAACATTACACAAACTATATTGGAGACTACAAAGAAGAGATTATTCATAGATTATAAAGCTTGGAAAGAATCAAAACAACACATTTCTGGAAACAGATTGTATAAATGCTACAAAAGAGAAAAATATATTTTCTCCCCACGCAACACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTC	CCCAGCGACACAAAGGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCACCTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATGTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTAGTTCAATTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTTATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAATTATTTGGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGATCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGAGGACTTTGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAATCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAATGTTATAGTAAACAAATTTAATATATATGTTACCTAATATTTTATTCTATGTATTGTCCTCATTTTATAAAATATAGCTGTGTCAAAATCATCTGTTCAATTTTGCCTTTTTATCTTTAGTCTAGAACTTGAATTTTAAGCATTTCTTTTACATCTATTTATCTTCTTTTTATCATATTTGTGTAGCACTGACTTCTTTTTAACTTACTTTGTTGAGATGTATTTGCCATGTTCATGAAGAATTAATATGAACAATTTAAAATAGTTTAAATGGCAGTTTAATAGTATTTTTTATTTTGTTCCTTGTTTGTATAAGAAATATATTCACATTCAAAATTTCAAAGAGTGAAATCTAGTACGTAGTAAAAAATCTCCTTGCCTCCTCAAACCCCAAACCATTTACTTTACCTTTCTGAATTTCTGAAGCAGTTTACTTTTTTTGTATATTCCCAAGATTATTATTGCCAAATTATATAAATATATTTACAATCACCAAATTGTAAATCGCCAATATATATATTTTATAATTTGCCCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTCCTTTTTCTTTCATTCTTTTTCTTTTTTCTTTCTTCTTTCAAGACACGCTCTCACTCCATCACCCAGGCTGCTGAAATGCAGTGGTGGGATTATAGCCCACTGCAACCTGAAAGTCCTGGGCTCACAGGATCCTCCCATCTCAGCCTCTGGAGTAGCTGGGAATACAGTTTGCATGTCATTGTGCCTGGCTAATTTTATTTTATTTTTGTAGAGACAGGGTGGAGTCTTGTTTCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGTATTGGGATTACAGACACGAACAACCACACCCAGCCTGCCTTTCATCTTTCCTTTTTTTTAAAAAAAGAAGTGATTACAGTAGAAACCTACCTTTCTGCACTTTTTGGTTTTCCACTTTAAGTTATATATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGACAGAGTTTTACTCTGTCGCCCTCTCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAAATCCGCCTCTCTGGTACAAGCAGTTCTCATGCCTCAGTCTCCCAAGTAGCTGGGATTAAAGACGCCAACAACCAAGCCATGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCATGTTGCCCCGGCTGGTCTCGAAATCTGGGACTCAAGTGATCTGACTGCCTCAGCCTCCCAATGTGCTGGGATTACAGGAGTGAGCCACCGCATCCGGCCTAAATTATATATTGGGTTTTGTGGCATATTATTTCATTAGCGCTTATTCCTTGTTTTTGATTATTTGCTTTCTTATTTTTAAAAGTATTTGCATCTTATTTTCTTTTATGGATATATCATGATTTATTCATCCAGTACTGTATTAGGGACATTAATGAAACAATAACCGAATTGTCTAGACTTTTAAAAATTTTTTACAAATAATTTGGTTGGTCAAAAAAATGATAGTTAACGGGGCATGGTGGCACACACCTTTAACCCCAACATTTCGGGAGGCCGAGGCAGGAGGATTGCTTCAGTCTAGTAGTTTGAGACCAGCTTGTGCATCTTTTGTAGAGACTTTGTAAAATTAGCTATGCATGGTGATGCATGTCTGTAGTTTCAGCTACTCAAGAAACTGAGGTGGGAGGATCACTTAAGCCAGGGAGGTCCAAGCTGCAGTTATCATGCCACTGAACTCCAGCCTAGGTGACAGAGCAATACCTTGCCTCAAAAATAAAATAAAATGAAATAATAAAATAAAATAAAATAAAAACCCAGAACTGACAATTTTCACTGTTCCTAATATTCTAATATACTTTAGTAAATTATTTTAGGATATGTTACTGTTTTCTTTTCAACGTGAATAAGGATAGAGGTATGCAAAGTCAAAAACCTGTCTGATAATCAATAGAATTATTTACCATTAAGCCATAATATGTCATTCACATAAGCAGACCAAGTTTGCTGCTCTTGTTGAAAGATATTCAGTTTTGTGGAAAAATCTATAAATATCTTTGACCTTCAAAGATGTAACTGTAATCTGTTTTTATTGCTTTGCTTTTATGCTTACATGCATGTATATTTAAAACCTTCCTAGCATATTATTAAAGTTTTAAATATCCTATTTATATTGGGAAATACCTGAAGTTGATAGGGGATCCTCCTTAGCCACCTAAGCTGTATTCATCAATTATTATGATGATGATGATGATTATTATTTTTGAGACAGGGTCTCACTCTGTAGCCCAGACTGCAGTGCAGTGGCACAATCTGGGCTTACTGCAATCTCTGCCTCCTGGGCTCAAGTGATCTTCCTACCTCAGCCTCTCAAGTTGCTGGGACTATAGGCACACACCACCATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGATATCGAGAAATACTATTTTCTTTACAAATTGTTTGCTACTATTTAGAGTCAACTACAGAGATTTTTTTGGGTAAATAATGTGATGACAAATTTAAATCATTTCACAGAAAATACCCTTATTTGCCTTTCCTATTTAACCTACGTTTTTGGTAAGAATTTTGTAGAAATTTGGAGGAGCTCTTAATTGCCTACTATGAAGGCATTCATGATGAATCCATGGAGAATTTACTTTTGAGGTGGACTTTGAAAGATGAATAGAATTTTGACAGAAAAAGATGAAGTAATAGAAGAAAAACCTTGAACAAAGAGTGTGCCAAGAAGGAGACAACATATTTTCTGTAAAATATGACTCCTATTGGAAAGTGGTTAGCCTTAGCACTGAGAAGATTGGCTCATGGTCACGTAGCGTATCTCCCAGATGGAAGTCTAATGTCTTGACAATTAGTCAATAGAAAGATAAACTTGTTGAAGATTTTAGTGAAATCGAGTGAAAGCTGTACTAATAAGGACAGAAATTATCACACGTGAAAGGAGAGATGGGATGTATACAAATTTTAAATATGGTAGGCAAAGGAAAAGAAGTCATAAAAATACATATGAGTAAATGTGGAGAATCACTATGCTATAAAAATTGTGATTTTTTAATGATTTGGGTTTTGGGTGATTATTGATTAGATATTCTTTTAACTTTGGTCGACTCATTTTCTAGGCAATGTTAGGGTATACAGGTAAAAATGTCAGGTAGAAAATGAAAATAGGGGGTTGCAGATATGGAGTTAAGAATACTTCAAATAATAGGCTAGTTTAAAGCCGTGGAAATAGAAACGTTAAATAAAAAGTTGGGGAAAAAAGTTTAAAGGCATAATTCTGGTAAATACTCACTTTTTGGAGCAGAAGAAAGATGAAGAACTAACAAGCCAATGATGGCAATACTGCTAGAGTTTGGCATGTCAGAGAAATCATAAAGGAAAATGTTTTAAGTGAGAGGCTGAATTTAACAAGCTATAGAGATATAGAGAAATAGTGTAAAGAATATGCACATACATTTTTATTACTTTAGTAAATAAAACGGTTCAGGCAATTTGACATTTATTGAATAAAGAAAAGCAAAAATTTAACAATAAGAACACAAGAAGATAAAATGTAGAAAAGTTAGAATTATATGCTCACCTCAGAGTAATATATACCAGTGTTTCTGGTGACCAAATAAATATTAATGCATTTCTTCCACACGAAACTATGGAGGACAGTTTACATTTCTGATATCCATGACATACAGGTCATACTTAAATTTATTATTAATTGATACGATATTTGAAATATTGGGAAGAAATTCCTTTCCTTATGAAGAAGAAATCCCTAGCTGAAACTAATGTAAGGAGCCAGACAGTATGAATGCCTCTGCAATTGATAAAGTTAAGGATTTACTATTAAATTATGATAAAGAAATAGAAAGTGCATAGAAGAACCCAGATATTGCGGAAGTAATTCATGTAATCATTACCTTTTGAAGCCACATGATGTCGCTGTCTACCAAGAAGTTCTGGTTGGTCAATGTTCAAAGTCTTTTCTCTGACAGCATCTGTCTCTAAAGGCCGAACAACGGGAGATGCAGCGGAATTGGATTAAAAGACTCTGAAAGTACAGTCGTTCATCTTTATATTAAGATAATATTTTCTGATAGGAAACGACTATTTAACATGGATTATCACTGGCGAGGAGAGCTGGGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAAGTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGATGTTAATGACAACCCGCCAGTGTTCCGGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCGTATTAAGAAAATCCTTGGACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCAAACTGAATGCTTCTGATCCGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCTGGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCAGCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTGATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAACTCATAAATTCTATTTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGATTTAGTTTTTCACCGTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTTTAGAAACCTTTTATAATTAATTGAATTTTCTCAGTGGCATAATACAGTATTAATCATTCTCCACAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGGATGATATCCATTTTTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGTCTTCTCTGAACAATACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTGAAAGTATTCCCCCAAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCTTAATCTTACTCCATATGCTGTACTTTGAAATGCATGTTTTAAATATGTTGTCTTTATATTTACTTTTATTCACTTTAAGATCTCGGTTTATTCATCTTATCTGACTTTTTAGTGTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATTGCCGTTTTAAGCAGTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAAAATTTGATAGTTTTCATATTCTTCCTAATTTTATTATAAACTAGTTAAAAAGTAAAATCAAGAGGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATTTAGACCATTTTACCATTTGGAGACATGTTTTTTATTCTACATGATTTTTACAGTTGTATTGTCGCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAAATGATTACTTTATTCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCCTTTGTTCATGAGTTGGAATATTTTCAATAATATTCCACATTAAAGTGATATTTAATATATGACTTAGAAAAATGTTTTCATCAGAAAAACTATACATGATAATTTCATTCTTGCAAACCAAACATATAATTTATAAATCCTTATTATACAGAATATTTGGGATTATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTATTATGGGATAAATCTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTTCAACATTTTCTTTCTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCTTGTGACTGTTGGACCTGCCTGGATATTAAATACCCATTAGACTTCGTGCATATTGCTTTGGAGAGAATGGTAGAAATTGATGGAAGGGAATGAACGATTTCTGGGACTCTGAATTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTTTAATCACTTATGAACAAATAATGTAATCATTTATGGGCATATTTTAGCCCCCTTGTCCAACTGAAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATTTTACAGTTCTCTTAATGCCTGTCCATGTTTAGCATTTTATTTGACTATTTGAACACATTGTGTAAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAATATGATTGTTTTCATTTAAGTCCTTTTAAAAAATATGATTATCTTTATTATCCTGTTTGAATAATATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCCTGTCTATGTCTACCTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCCTAAACATTTAATTGACTTTTACAAAATATCATAAATAGGAGGATTCTTTCCACCACCTAGCATTGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTCTGTTTTTCTTCAACTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAGTGAGAAAGTCTAAACCTATTTCTTGTACATTAATACTTTTCACTATTCTAATTATGGTGATGCTTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTCAGAAGTTAGTTATTAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTCCTCCCTTTACCAATTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTATTCAGTTCCTTGGCATTATATGTATGCATGATAAATGTGAATTCTACTTTATAGATTTATTTGTATCAAGTAAGTTAATAGTTATAAATTATTAATAATAAACTCTGGCAAGTGATAGGTACATAATAAAATTTAGTTATTACCATTCTTAAGAGAAAAGAAGTTAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAGTCGTTATGGCCTTCCATATTAATCTTATTTTTGTGTAAAACTATCTTCTGTAAAGTCATTTTTTAGATTAACCTAGGATGTTTCAATATTTTGAATGTTGTGTGGTGGAATGAAAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCAAGTTAACACCACCTATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCCTTCCAAGGAATGTGTAGACTATCTTACTTTGATAGTTGTATGTTTCCCATATTTAAAAGTTGCCTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTTCTTTGTATGTATGAGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAGTATACAATAATGTTTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTCTATGAATTAAGTAAACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAAGTGCTTTCTCTTTTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTAGCAAGTAGAGAAGATTGTAATAACCAGTCTTCATTAAACATTAAATAGGACCCTTACAGATCTCTAACAGCATATCATCATGTCAGGAATTATTACTGAGCCCCAGCCCCTGGCTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCACACAATGCAAGGCAAGATAATGTAACAGGTACAAGAGGTAAATCAGAATGACGTTGAAGTTGAAAGACAATCATTTCCTATTTGAATTTTTGAAGAAATACTTGAAGGGGCATGGTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCCCGGGAGAATATTGAGAATGATAGACATTTCTTGGAAAGAGAAAACATAAGGAAAGTTGAAGACACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACTTTGGTTAAAACACACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTAAGAAGATCTCTTGATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTAAGGAATTTGGCCACTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTGAGCAAAATAAATCACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACTCAGAAGCTCCTGCAGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTCTTAGGCTGTTATCAGTAGAAATACGAAATAAAAGATAAATATGCAAAAACATTAATGGCACAATAAACACTCACGGTTTTGCCTTTAGACTTGAGATACACTAAAATCTAGATTTAATTAATCGACTTGGACGTTGGAATAAGATAGTAAAACTCACAACAAAACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCATAGCTTTAAAAACAGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGAAATTAAAACATATTGTAATAACATTACACAAACTATATTGGAGACTACAAAGAAGAGATTATTCATAGATTATAAAGCTTGGAAAGAATCAAAACAACACATTTCTGGAAACAGATTGTATAAATGCTACAAAAGAGAAAAATATATTTTCTCCCCACGCAACACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTC	-	novel	.	TCGA-K7-A6G5-01	TCGA-K7-A6G5-10	CCCAGCGACACAAAGGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCACCTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATGTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTAGTTCAATTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTTATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAATTATTTGGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGATCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGAGGACTTTGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAATCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAATGTTATAGTAAACAAATTTAATATATATGTTACCTAATATTTTATTCTATGTATTGTCCTCATTTTATAAAATATAGCTGTGTCAAAATCATCTGTTCAATTTTGCCTTTTTATCTTTAGTCTAGAACTTGAATTTTAAGCATTTCTTTTACATCTATTTATCTTCTTTTTATCATATTTGTGTAGCACTGACTTCTTTTTAACTTACTTTGTTGAGATGTATTTGCCATGTTCATGAAGAATTAATATGAACAATTTAAAATAGTTTAAATGGCAGTTTAATAGTATTTTTTATTTTGTTCCTTGTTTGTATAAGAAATATATTCACATTCAAAATTTCAAAGAGTGAAATCTAGTACGTAGTAAAAAATCTCCTTGCCTCCTCAAACCCCAAACCATTTACTTTACCTTTCTGAATTTCTGAAGCAGTTTACTTTTTTTGTATATTCCCAAGATTATTATTGCCAAATTATATAAATATATTTACAATCACCAAATTGTAAATCGCCAATATATATATTTTATAATTTGCCCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTCCTTTTTCTTTCATTCTTTTTCTTTTTTCTTTCTTCTTTCAAGACACGCTCTCACTCCATCACCCAGGCTGCTGAAATGCAGTGGTGGGATTATAGCCCACTGCAACCTGAAAGTCCTGGGCTCACAGGATCCTCCCATCTCAGCCTCTGGAGTAGCTGGGAATACAGTTTGCATGTCATTGTGCCTGGCTAATTTTATTTTATTTTTGTAGAGACAGGGTGGAGTCTTGTTTCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGTATTGGGATTACAGACACGAACAACCACACCCAGCCTGCCTTTCATCTTTCCTTTTTTTTAAAAAAAGAAGTGATTACAGTAGAAACCTACCTTTCTGCACTTTTTGGTTTTCCACTTTAAGTTATATATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGACAGAGTTTTACTCTGTCGCCCTCTCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAAATCCGCCTCTCTGGTACAAGCAGTTCTCATGCCTCAGTCTCCCAAGTAGCTGGGATTAAAGACGCCAACAACCAAGCCATGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCATGTTGCCCCGGCTGGTCTCGAAATCTGGGACTCAAGTGATCTGACTGCCTCAGCCTCCCAATGTGCTGGGATTACAGGAGTGAGCCACCGCATCCGGCCTAAATTATATATTGGGTTTTGTGGCATATTATTTCATTAGCGCTTATTCCTTGTTTTTGATTATTTGCTTTCTTATTTTTAAAAGTATTTGCATCTTATTTTCTTTTATGGATATATCATGATTTATTCATCCAGTACTGTATTAGGGACATTAATGAAACAATAACCGAATTGTCTAGACTTTTAAAAATTTTTTACAAATAATTTGGTTGGTCAAAAAAATGATAGTTAACGGGGCATGGTGGCACACACCTTTAACCCCAACATTTCGGGAGGCCGAGGCAGGAGGATTGCTTCAGTCTAGTAGTTTGAGACCAGCTTGTGCATCTTTTGTAGAGACTTTGTAAAATTAGCTATGCATGGTGATGCATGTCTGTAGTTTCAGCTACTCAAGAAACTGAGGTGGGAGGATCACTTAAGCCAGGGAGGTCCAAGCTGCAGTTATCATGCCACTGAACTCCAGCCTAGGTGACAGAGCAATACCTTGCCTCAAAAATAAAATAAAATGAAATAATAAAATAAAATAAAATAAAAACCCAGAACTGACAATTTTCACTGTTCCTAATATTCTAATATACTTTAGTAAATTATTTTAGGATATGTTACTGTTTTCTTTTCAACGTGAATAAGGATAGAGGTATGCAAAGTCAAAAACCTGTCTGATAATCAATAGAATTATTTACCATTAAGCCATAATATGTCATTCACATAAGCAGACCAAGTTTGCTGCTCTTGTTGAAAGATATTCAGTTTTGTGGAAAAATCTATAAATATCTTTGACCTTCAAAGATGTAACTGTAATCTGTTTTTATTGCTTTGCTTTTATGCTTACATGCATGTATATTTAAAACCTTCCTAGCATATTATTAAAGTTTTAAATATCCTATTTATATTGGGAAATACCTGAAGTTGATAGGGGATCCTCCTTAGCCACCTAAGCTGTATTCATCAATTATTATGATGATGATGATGATTATTATTTTTGAGACAGGGTCTCACTCTGTAGCCCAGACTGCAGTGCAGTGGCACAATCTGGGCTTACTGCAATCTCTGCCTCCTGGGCTCAAGTGATCTTCCTACCTCAGCCTCTCAAGTTGCTGGGACTATAGGCACACACCACCATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGATATCGAGAAATACTATTTTCTTTACAAATTGTTTGCTACTATTTAGAGTCAACTACAGAGATTTTTTTGGGTAAATAATGTGATGACAAATTTAAATCATTTCACAGAAAATACCCTTATTTGCCTTTCCTATTTAACCTACGTTTTTGGTAAGAATTTTGTAGAAATTTGGAGGAGCTCTTAATTGCCTACTATGAAGGCATTCATGATGAATCCATGGAGAATTTACTTTTGAGGTGGACTTTGAAAGATGAATAGAATTTTGACAGAAAAAGATGAAGTAATAGAAGAAAAACCTTGAACAAAGAGTGTGCCAAGAAGGAGACAACATATTTTCTGTAAAATATGACTCCTATTGGAAAGTGGTTAGCCTTAGCACTGAGAAGATTGGCTCATGGTCACGTAGCGTATCTCCCAGATGGAAGTCTAATGTCTTGACAATTAGTCAATAGAAAGATAAACTTGTTGAAGATTTTAGTGAAATCGAGTGAAAGCTGTACTAATAAGGACAGAAATTATCACACGTGAAAGGAGAGATGGGATGTATACAAATTTTAAATATGGTAGGCAAAGGAAAAGAAGTCATAAAAATACATATGAGTAAATGTGGAGAATCACTATGCTATAAAAATTGTGATTTTTTAATGATTTGGGTTTTGGGTGATTATTGATTAGATATTCTTTTAACTTTGGTCGACTCATTTTCTAGGCAATGTTAGGGTATACAGGTAAAAATGTCAGGTAGAAAATGAAAATAGGGGGTTGCAGATATGGAGTTAAGAATACTTCAAATAATAGGCTAGTTTAAAGCCGTGGAAATAGAAACGTTAAATAAAAAGTTGGGGAAAAAAGTTTAAAGGCATAATTCTGGTAAATACTCACTTTTTGGAGCAGAAGAAAGATGAAGAACTAACAAGCCAATGATGGCAATACTGCTAGAGTTTGGCATGTCAGAGAAATCATAAAGGAAAATGTTTTAAGTGAGAGGCTGAATTTAACAAGCTATAGAGATATAGAGAAATAGTGTAAAGAATATGCACATACATTTTTATTACTTTAGTAAATAAAACGGTTCAGGCAATTTGACATTTATTGAATAAAGAAAAGCAAAAATTTAACAATAAGAACACAAGAAGATAAAATGTAGAAAAGTTAGAATTATATGCTCACCTCAGAGTAATATATACCAGTGTTTCTGGTGACCAAATAAATATTAATGCATTTCTTCCACACGAAACTATGGAGGACAGTTTACATTTCTGATATCCATGACATACAGGTCATACTTAAATTTATTATTAATTGATACGATATTTGAAATATTGGGAAGAAATTCCTTTCCTTATGAAGAAGAAATCCCTAGCTGAAACTAATGTAAGGAGCCAGACAGTATGAATGCCTCTGCAATTGATAAAGTTAAGGATTTACTATTAAATTATGATAAAGAAATAGAAAGTGCATAGAAGAACCCAGATATTGCGGAAGTAATTCATGTAATCATTACCTTTTGAAGCCACATGATGTCGCTGTCTACCAAGAAGTTCTGGTTGGTCAATGTTCAAAGTCTTTTCTCTGACAGCATCTGTCTCTAAAGGCCGAACAACGGGAGATGCAGCGGAATTGGATTAAAAGACTCTGAAAGTACAGTCGTTCATCTTTATATTAAGATAATATTTTCTGATAGGAAACGACTATTTAACATGGATTATCACTGGCGAGGAGAGCTGGGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAAGTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGATGTTAATGACAACCCGCCAGTGTTCCGGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCGTATTAAGAAAATCCTTGGACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCAAACTGAATGCTTCTGATCCGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCTGGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCAGCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTGATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAACTCATAAATTCTATTTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGATTTAGTTTTTCACCGTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTTTAGAAACCTTTTATAATTAATTGAATTTTCTCAGTGGCATAATACAGTATTAATCATTCTCCACAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGGATGATATCCATTTTTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGTCTTCTCTGAACAATACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTGAAAGTATTCCCCCAAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCTTAATCTTACTCCATATGCTGTACTTTGAAATGCATGTTTTAAATATGTTGTCTTTATATTTACTTTTATTCACTTTAAGATCTCGGTTTATTCATCTTATCTGACTTTTTAGTGTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATTGCCGTTTTAAGCAGTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAAAATTTGATAGTTTTCATATTCTTCCTAATTTTATTATAAACTAGTTAAAAAGTAAAATCAAGAGGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATTTAGACCATTTTACCATTTGGAGACATGTTTTTTATTCTACATGATTTTTACAGTTGTATTGTCGCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAAATGATTACTTTATTCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCCTTTGTTCATGAGTTGGAATATTTTCAATAATATTCCACATTAAAGTGATATTTAATATATGACTTAGAAAAATGTTTTCATCAGAAAAACTATACATGATAATTTCATTCTTGCAAACCAAACATATAATTTATAAATCCTTATTATACAGAATATTTGGGATTATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTATTATGGGATAAATCTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTTCAACATTTTCTTTCTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCTTGTGACTGTTGGACCTGCCTGGATATTAAATACCCATTAGACTTCGTGCATATTGCTTTGGAGAGAATGGTAGAAATTGATGGAAGGGAATGAACGATTTCTGGGACTCTGAATTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTTTAATCACTTATGAACAAATAATGTAATCATTTATGGGCATATTTTAGCCCCCTTGTCCAACTGAAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATTTTACAGTTCTCTTAATGCCTGTCCATGTTTAGCATTTTATTTGACTATTTGAACACATTGTGTAAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAATATGATTGTTTTCATTTAAGTCCTTTTAAAAAATATGATTATCTTTATTATCCTGTTTGAATAATATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCCTGTCTATGTCTACCTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCCTAAACATTTAATTGACTTTTACAAAATATCATAAATAGGAGGATTCTTTCCACCACCTAGCATTGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTCTGTTTTTCTTCAACTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAGTGAGAAAGTCTAAACCTATTTCTTGTACATTAATACTTTTCACTATTCTAATTATGGTGATGCTTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTCAGAAGTTAGTTATTAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTCCTCCCTTTACCAATTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTATTCAGTTCCTTGGCATTATATGTATGCATGATAAATGTGAATTCTACTTTATAGATTTATTTGTATCAAGTAAGTTAATAGTTATAAATTATTAATAATAAACTCTGGCAAGTGATAGGTACATAATAAAATTTAGTTATTACCATTCTTAAGAGAAAAGAAGTTAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAGTCGTTATGGCCTTCCATATTAATCTTATTTTTGTGTAAAACTATCTTCTGTAAAGTCATTTTTTAGATTAACCTAGGATGTTTCAATATTTTGAATGTTGTGTGGTGGAATGAAAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCAAGTTAACACCACCTATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCCTTCCAAGGAATGTGTAGACTATCTTACTTTGATAGTTGTATGTTTCCCATATTTAAAAGTTGCCTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTTCTTTGTATGTATGAGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAGTATACAATAATGTTTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTCTATGAATTAAGTAAACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAAGTGCTTTCTCTTTTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTAGCAAGTAGAGAAGATTGTAATAACCAGTCTTCATTAAACATTAAATAGGACCCTTACAGATCTCTAACAGCATATCATCATGTCAGGAATTATTACTGAGCCCCAGCCCCTGGCTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCACACAATGCAAGGCAAGATAATGTAACAGGTACAAGAGGTAAATCAGAATGACGTTGAAGTTGAAAGACAATCATTTCCTATTTGAATTTTTGAAGAAATACTTGAAGGGGCATGGTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCCCGGGAGAATATTGAGAATGATAGACATTTCTTGGAAAGAGAAAACATAAGGAAAGTTGAAGACACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACTTTGGTTAAAACACACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTAAGAAGATCTCTTGATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTAAGGAATTTGGCCACTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTGAGCAAAATAAATCACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACTCAGAAGCTCCTGCAGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTCTTAGGCTGTTATCAGTAGAAATACGAAATAAAAGATAAATATGCAAAAACATTAATGGCACAATAAACACTCACGGTTTTGCCTTTAGACTTGAGATACACTAAAATCTAGATTTAATTAATCGACTTGGACGTTGGAATAAGATAGTAAAACTCACAACAAAACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCATAGCTTTAAAAACAGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGAAATTAAAACATATTGTAATAACATTACACAAACTATATTGGAGACTACAAAGAAGAGATTATTCATAGATTATAAAGCTTGGAAAGAATCAAAACAACACATTTCTGGAAACAGATTGTATAAATGCTACAAAAGAGAAAAATATATTTTCTCCCCACGCAACACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTC	CCCAGCGACACAAAGGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCACCTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATGTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTAGTTCAATTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTTATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAATTATTTGGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGATCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGAGGACTTTGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAATCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAATGTTATAGTAAACAAATTTAATATATATGTTACCTAATATTTTATTCTATGTATTGTCCTCATTTTATAAAATATAGCTGTGTCAAAATCATCTGTTCAATTTTGCCTTTTTATCTTTAGTCTAGAACTTGAATTTTAAGCATTTCTTTTACATCTATTTATCTTCTTTTTATCATATTTGTGTAGCACTGACTTCTTTTTAACTTACTTTGTTGAGATGTATTTGCCATGTTCATGAAGAATTAATATGAACAATTTAAAATAGTTTAAATGGCAGTTTAATAGTATTTTTTATTTTGTTCCTTGTTTGTATAAGAAATATATTCACATTCAAAATTTCAAAGAGTGAAATCTAGTACGTAGTAAAAAATCTCCTTGCCTCCTCAAACCCCAAACCATTTACTTTACCTTTCTGAATTTCTGAAGCAGTTTACTTTTTTTGTATATTCCCAAGATTATTATTGCCAAATTATATAAATATATTTACAATCACCAAATTGTAAATCGCCAATATATATATTTTATAATTTGCCCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTCCTTTTTCTTTCATTCTTTTTCTTTTTTCTTTCTTCTTTCAAGACACGCTCTCACTCCATCACCCAGGCTGCTGAAATGCAGTGGTGGGATTATAGCCCACTGCAACCTGAAAGTCCTGGGCTCACAGGATCCTCCCATCTCAGCCTCTGGAGTAGCTGGGAATACAGTTTGCATGTCATTGTGCCTGGCTAATTTTATTTTATTTTTGTAGAGACAGGGTGGAGTCTTGTTTCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGTATTGGGATTACAGACACGAACAACCACACCCAGCCTGCCTTTCATCTTTCCTTTTTTTTAAAAAAAGAAGTGATTACAGTAGAAACCTACCTTTCTGCACTTTTTGGTTTTCCACTTTAAGTTATATATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGACAGAGTTTTACTCTGTCGCCCTCTCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAAATCCGCCTCTCTGGTACAAGCAGTTCTCATGCCTCAGTCTCCCAAGTAGCTGGGATTAAAGACGCCAACAACCAAGCCATGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCATGTTGCCCCGGCTGGTCTCGAAATCTGGGACTCAAGTGATCTGACTGCCTCAGCCTCCCAATGTGCTGGGATTACAGGAGTGAGCCACCGCATCCGGCCTAAATTATATATTGGGTTTTGTGGCATATTATTTCATTAGCGCTTATTCCTTGTTTTTGATTATTTGCTTTCTTATTTTTAAAAGTATTTGCATCTTATTTTCTTTTATGGATATATCATGATTTATTCATCCAGTACTGTATTAGGGACATTAATGAAACAATAACCGAATTGTCTAGACTTTTAAAAATTTTTTACAAATAATTTGGTTGGTCAAAAAAATGATAGTTAACGGGGCATGGTGGCACACACCTTTAACCCCAACATTTCGGGAGGCCGAGGCAGGAGGATTGCTTCAGTCTAGTAGTTTGAGACCAGCTTGTGCATCTTTTGTAGAGACTTTGTAAAATTAGCTATGCATGGTGATGCATGTCTGTAGTTTCAGCTACTCAAGAAACTGAGGTGGGAGGATCACTTAAGCCAGGGAGGTCCAAGCTGCAGTTATCATGCCACTGAACTCCAGCCTAGGTGACAGAGCAATACCTTGCCTCAAAAATAAAATAAAATGAAATAATAAAATAAAATAAAATAAAAACCCAGAACTGACAATTTTCACTGTTCCTAATATTCTAATATACTTTAGTAAATTATTTTAGGATATGTTACTGTTTTCTTTTCAACGTGAATAAGGATAGAGGTATGCAAAGTCAAAAACCTGTCTGATAATCAATAGAATTATTTACCATTAAGCCATAATATGTCATTCACATAAGCAGACCAAGTTTGCTGCTCTTGTTGAAAGATATTCAGTTTTGTGGAAAAATCTATAAATATCTTTGACCTTCAAAGATGTAACTGTAATCTGTTTTTATTGCTTTGCTTTTATGCTTACATGCATGTATATTTAAAACCTTCCTAGCATATTATTAAAGTTTTAAATATCCTATTTATATTGGGAAATACCTGAAGTTGATAGGGGATCCTCCTTAGCCACCTAAGCTGTATTCATCAATTATTATGATGATGATGATGATTATTATTTTTGAGACAGGGTCTCACTCTGTAGCCCAGACTGCAGTGCAGTGGCACAATCTGGGCTTACTGCAATCTCTGCCTCCTGGGCTCAAGTGATCTTCCTACCTCAGCCTCTCAAGTTGCTGGGACTATAGGCACACACCACCATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGATATCGAGAAATACTATTTTCTTTACAAATTGTTTGCTACTATTTAGAGTCAACTACAGAGATTTTTTTGGGTAAATAATGTGATGACAAATTTAAATCATTTCACAGAAAATACCCTTATTTGCCTTTCCTATTTAACCTACGTTTTTGGTAAGAATTTTGTAGAAATTTGGAGGAGCTCTTAATTGCCTACTATGAAGGCATTCATGATGAATCCATGGAGAATTTACTTTTGAGGTGGACTTTGAAAGATGAATAGAATTTTGACAGAAAAAGATGAAGTAATAGAAGAAAAACCTTGAACAAAGAGTGTGCCAAGAAGGAGACAACATATTTTCTGTAAAATATGACTCCTATTGGAAAGTGGTTAGCCTTAGCACTGAGAAGATTGGCTCATGGTCACGTAGCGTATCTCCCAGATGGAAGTCTAATGTCTTGACAATTAGTCAATAGAAAGATAAACTTGTTGAAGATTTTAGTGAAATCGAGTGAAAGCTGTACTAATAAGGACAGAAATTATCACACGTGAAAGGAGAGATGGGATGTATACAAATTTTAAATATGGTAGGCAAAGGAAAAGAAGTCATAAAAATACATATGAGTAAATGTGGAGAATCACTATGCTATAAAAATTGTGATTTTTTAATGATTTGGGTTTTGGGTGATTATTGATTAGATATTCTTTTAACTTTGGTCGACTCATTTTCTAGGCAATGTTAGGGTATACAGGTAAAAATGTCAGGTAGAAAATGAAAATAGGGGGTTGCAGATATGGAGTTAAGAATACTTCAAATAATAGGCTAGTTTAAAGCCGTGGAAATAGAAACGTTAAATAAAAAGTTGGGGAAAAAAGTTTAAAGGCATAATTCTGGTAAATACTCACTTTTTGGAGCAGAAGAAAGATGAAGAACTAACAAGCCAATGATGGCAATACTGCTAGAGTTTGGCATGTCAGAGAAATCATAAAGGAAAATGTTTTAAGTGAGAGGCTGAATTTAACAAGCTATAGAGATATAGAGAAATAGTGTAAAGAATATGCACATACATTTTTATTACTTTAGTAAATAAAACGGTTCAGGCAATTTGACATTTATTGAATAAAGAAAAGCAAAAATTTAACAATAAGAACACAAGAAGATAAAATGTAGAAAAGTTAGAATTATATGCTCACCTCAGAGTAATATATACCAGTGTTTCTGGTGACCAAATAAATATTAATGCATTTCTTCCACACGAAACTATGGAGGACAGTTTACATTTCTGATATCCATGACATACAGGTCATACTTAAATTTATTATTAATTGATACGATATTTGAAATATTGGGAAGAAATTCCTTTCCTTATGAAGAAGAAATCCCTAGCTGAAACTAATGTAAGGAGCCAGACAGTATGAATGCCTCTGCAATTGATAAAGTTAAGGATTTACTATTAAATTATGATAAAGAAATAGAAAGTGCATAGAAGAACCCAGATATTGCGGAAGTAATTCATGTAATCATTACCTTTTGAAGCCACATGATGTCGCTGTCTACCAAGAAGTTCTGGTTGGTCAATGTTCAAAGTCTTTTCTCTGACAGCATCTGTCTCTAAAGGCCGAACAACGGGAGATGCAGCGGAATTGGATTAAAAGACTCTGAAAGTACAGTCGTTCATCTTTATATTAAGATAATATTTTCTGATAGGAAACGACTATTTAACATGGATTATCACTGGCGAGGAGAGCTGGGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAAGTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGATGTTAATGACAACCCGCCAGTGTTCCGGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCGTATTAAGAAAATCCTTGGACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCAAACTGAATGCTTCTGATCCGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCTGGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCAGCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTGATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAACTCATAAATTCTATTTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGATTTAGTTTTTCACCGTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTTTAGAAACCTTTTATAATTAATTGAATTTTCTCAGTGGCATAATACAGTATTAATCATTCTCCACAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGGATGATATCCATTTTTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGTCTTCTCTGAACAATACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTGAAAGTATTCCCCCAAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCTTAATCTTACTCCATATGCTGTACTTTGAAATGCATGTTTTAAATATGTTGTCTTTATATTTACTTTTATTCACTTTAAGATCTCGGTTTATTCATCTTATCTGACTTTTTAGTGTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATTGCCGTTTTAAGCAGTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAAAATTTGATAGTTTTCATATTCTTCCTAATTTTATTATAAACTAGTTAAAAAGTAAAATCAAGAGGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATTTAGACCATTTTACCATTTGGAGACATGTTTTTTATTCTACATGATTTTTACAGTTGTATTGTCGCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAAATGATTACTTTATTCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCCTTTGTTCATGAGTTGGAATATTTTCAATAATATTCCACATTAAAGTGATATTTAATATATGACTTAGAAAAATGTTTTCATCAGAAAAACTATACATGATAATTTCATTCTTGCAAACCAAACATATAATTTATAAATCCTTATTATACAGAATATTTGGGATTATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTATTATGGGATAAATCTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTTCAACATTTTCTTTCTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCTTGTGACTGTTGGACCTGCCTGGATATTAAATACCCATTAGACTTCGTGCATATTGCTTTGGAGAGAATGGTAGAAATTGATGGAAGGGAATGAACGATTTCTGGGACTCTGAATTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTTTAATCACTTATGAACAAATAATGTAATCATTTATGGGCATATTTTAGCCCCCTTGTCCAACTGAAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATTTTACAGTTCTCTTAATGCCTGTCCATGTTTAGCATTTTATTTGACTATTTGAACACATTGTGTAAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAATATGATTGTTTTCATTTAAGTCCTTTTAAAAAATATGATTATCTTTATTATCCTGTTTGAATAATATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCCTGTCTATGTCTACCTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCCTAAACATTTAATTGACTTTTACAAAATATCATAAATAGGAGGATTCTTTCCACCACCTAGCATTGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTCTGTTTTTCTTCAACTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAGTGAGAAAGTCTAAACCTATTTCTTGTACATTAATACTTTTCACTATTCTAATTATGGTGATGCTTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTCAGAAGTTAGTTATTAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTCCTCCCTTTACCAATTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTATTCAGTTCCTTGGCATTATATGTATGCATGATAAATGTGAATTCTACTTTATAGATTTATTTGTATCAAGTAAGTTAATAGTTATAAATTATTAATAATAAACTCTGGCAAGTGATAGGTACATAATAAAATTTAGTTATTACCATTCTTAAGAGAAAAGAAGTTAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAGTCGTTATGGCCTTCCATATTAATCTTATTTTTGTGTAAAACTATCTTCTGTAAAGTCATTTTTTAGATTAACCTAGGATGTTTCAATATTTTGAATGTTGTGTGGTGGAATGAAAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCAAGTTAACACCACCTATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCCTTCCAAGGAATGTGTAGACTATCTTACTTTGATAGTTGTATGTTTCCCATATTTAAAAGTTGCCTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTTCTTTGTATGTATGAGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAGTATACAATAATGTTTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTCTATGAATTAAGTAAACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAAGTGCTTTCTCTTTTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTAGCAAGTAGAGAAGATTGTAATAACCAGTCTTCATTAAACATTAAATAGGACCCTTACAGATCTCTAACAGCATATCATCATGTCAGGAATTATTACTGAGCCCCAGCCCCTGGCTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCACACAATGCAAGGCAAGATAATGTAACAGGTACAAGAGGTAAATCAGAATGACGTTGAAGTTGAAAGACAATCATTTCCTATTTGAATTTTTGAAGAAATACTTGAAGGGGCATGGTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCCCGGGAGAATATTGAGAATGATAGACATTTCTTGGAAAGAGAAAACATAAGGAAAGTTGAAGACACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACTTTGGTTAAAACACACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTAAGAAGATCTCTTGATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTAAGGAATTTGGCCACTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTGAGCAAAATAAATCACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACTCAGAAGCTCCTGCAGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTCTTAGGCTGTTATCAGTAGAAATACGAAATAAAAGATAAATATGCAAAAACATTAATGGCACAATAAACACTCACGGTTTTGCCTTTAGACTTGAGATACACTAAAATCTAGATTTAATTAATCGACTTGGACGTTGGAATAAGATAGTAAAACTCACAACAAAACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCATAGCTTTAAAAACAGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGAAATTAAAACATATTGTAATAACATTACACAAACTATATTGGAGACTACAAAGAAGAGATTATTCATAGATTATAAAGCTTGGAAAGAATCAAAACAACACATTTCTGGAAACAGATTGTATAAATGCTACAAAAGAGAAAAATATATTTTCTCCCCACGCAACACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	269	80	335	0				ENST00000531613	.		.		.	.	.	.	.	-	.	protein_coding	YES	CCDS54919.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GGTGTTCCCAGCGACACAAAGGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAGTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCTCACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCATCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTTACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCACCTTCAAGAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGTCCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCTCTGTGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGCCCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCGCGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTGAGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGCCTCGGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTGGGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGACTCAGGCTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGAGCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACGACACGAGCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAAGGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGCTGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGCATTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACACGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAATGTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTAGTTCAATTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTTATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAATTATTTGGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGATCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGAGGACTTTGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAATCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAATGTTATAGTAAACAAATTTAATATATATGTTACCTAATATTTTATTCTATGTATTGTCCTCATTTTATAAAATATAGCTGTGTCAAAATCATCTGTTCAATTTTGCCTTTTTATCTTTAGTCTAGAACTTGAATTTTAAGCATTTCTTTTACATCTATTTATCTTCTTTTTATCATATTTGTGTAGCACTGACTTCTTTTTAACTTACTTTGTTGAGATGTATTTGCCATGTTCATGAAGAATTAATATGAACAATTTAAAATAGTTTAAATGGCAGTTTAATAGTATTTTTTATTTTGTTCCTTGTTTGTATAAGAAATATATTCACATTCAAAATTTCAAAGAGTGAAATCTAGTACGTAGTAAAAAATCTCCTTGCCTCCTCAAACCCCAAACCATTTACTTTACCTTTCTGAATTTCTGAAGCAGTTTACTTTTTTTGTATATTCCCAAGATTATTATTGCCAAATTATATAAATATATTTACAATCACCAAATTGTAAATCGCCAATATATATATTTTATAATTTGCCCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTCCTTTTTCTTTCATTCTTTTTCTTTTTTCTTTCTTCTTTCAAGACACGCTCTCACTCCATCACCCAGGCTGCTGAAATGCAGTGGTGGGATTATAGCCCACTGCAACCTGAAAGTCCTGGGCTCACAGGATCCTCCCATCTCAGCCTCTGGAGTAGCTGGGAATACAGTTTGCATGTCATTGTGCCTGGCTAATTTTATTTTATTTTTGTAGAGACAGGGTGGAGTCTTGTTTCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGTATTGGGATTACAGACACGAACAACCACACCCAGCCTGCCTTTCATCTTTCCTTTTTTTTAAAAAAAGAAGTGATTACAGTAGAAACCTACCTTTCTGCACTTTTTGGTTTTCCACTTTAAGTTATATATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGACAGAGTTTTACTCTGTCGCCCTCTCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAAATCCGCCTCTCTGGTACAAGCAGTTCTCATGCCTCAGTCTCCCAAGTAGCTGGGATTAAAGACGCCAACAACCAAGCCATGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCATGTTGCCCCGGCTGGTCTCGAAATCTGGGACTCAAGTGATCTGACTGCCTCAGCCTCCCAATGTGCTGGGATTACAGGAGTGAGCCACCGCATCCGGCCTAAATTATATATTGGGTTTTGTGGCATATTATTTCATTAGCGCTTATTCCTTGTTTTTGATTATTTGCTTTCTTATTTTTAAAAGTATTTGCATCTTATTTTCTTTTATGGATATATCATGATTTATTCATCCAGTACTGTATTAGGGACATTAATGAAACAATAACCGAATTGTCTAGACTTTTAAAAATTTTTTACAAATAATTTGGTTGGTCAAAAAAATGATAGTTAACGGGGCATGGTGGCACACACCTTTAACCCCAACATTTCGGGAGGCCGAGGCAGGAGGATTGCTTCAGTCTAGTAGTTTGAGACCAGCTTGTGCATCTTTTGTAGAGACTTTGTAAAATTAGCTATGCATGGTGATGCATGTCTGTAGTTTCAGCTACTCAAGAAACTGAGGTGGGAGGATCACTTAAGCCAGGGAGGTCCAAGCTGCAGTTATCATGCCACTGAACTCCAGCCTAGGTGACAGAGCAATACCTTGCCTCAAAAATAAAATAAAATGAAATAATAAAATAAAATAAAATAAAAACCCAGAACTGACAATTTTCACTGTTCCTAATATTCTAATATACTTTAGTAAATTATTTTAGGATATGTTACTGTTTTCTTTTCAACGTGAATAAGGATAGAGGTATGCAAAGTCAAAAACCTGTCTGATAATCAATAGAATTATTTACCATTAAGCCATAATATGTCATTCACATAAGCAGACCAAGTTTGCTGCTCTTGTTGAAAGATATTCAGTTTTGTGGAAAAATCTATAAATATCTTTGACCTTCAAAGATGTAACTGTAATCTGTTTTTATTGCTTTGCTTTTATGCTTACATGCATGTATATTTAAAACCTTCCTAGCATATTATTAAAGTTTTAAATATCCTATTTATATTGGGAAATACCTGAAGTTGATAGGGGATCCTCCTTAGCCACCTAAGCTGTATTCATCAATTATTATGATGATGATGATGATTATTATTTTTGAGACAGGGTCTCACTCTGTAGCCCAGACTGCAGTGCAGTGGCACAATCTGGGCTTACTGCAATCTCTGCCTCCTGGGCTCAAGTGATCTTCCTACCTCAGCCTCTCAAGTTGCTGGGACTATAGGCACACACCACCATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGATATCGAGAAATACTATTTTCTTTACAAATTGTTTGCTACTATTTAGAGTCAACTACAGAGATTTTTTTGGGTAAATAATGTGATGACAAATTTAAATCATTTCACAGAAAATACCCTTATTTGCCTTTCCTATTTAACCTACGTTTTTGGTAAGAATTTTGTAGAAATTTGGAGGAGCTCTTAATTGCCTACTATGAAGGCATTCATGATGAATCCATGGAGAATTTACTTTTGAGGTGGACTTTGAAAGATGAATAGAATTTTGACAGAAAAAGATGAAGTAATAGAAGAAAAACCTTGAACAAAGAGTGTGCCAAGAAGGAGACAACATATTTTCTGTAAAATATGACTCCTATTGGAAAGTGGTTAGCCTTAGCACTGAGAAGATTGGCTCATGGTCACGTAGCGTATCTCCCAGATGGAAGTCTAATGTCTTGACAATTAGTCAATAGAAAGATAAACTTGTTGAAGATTTTAGTGAAATCGAGTGAAAGCTGTACTAATAAGGACAGAAATTATCACACGTGAAAGGAGAGATGGGATGTATACAAATTTTAAATATGGTAGGCAAAGGAAAAGAAGTCATAAAAATACATATGAGTAAATGTGGAGAATCACTATGCTATAAAAATTGTGATTTTTTAATGATTTGGGTTTTGGGTGATTATTGATTAGATATTCTTTTAACTTTGGTCGACTCATTTTCTAGGCAATGTTAGGGTATACAGGTAAAAATGTCAGGTAGAAAATGAAAATAGGGGGTTGCAGATATGGAGTTAAGAATACTTCAAATAATAGGCTAGTTTAAAGCCGTGGAAATAGAAACGTTAAATAAAAAGTTGGGGAAAAAAGTTTAAAGGCATAATTCTGGTAAATACTCACTTTTTGGAGCAGAAGAAAGATGAAGAACTAACAAGCCAATGATGGCAATACTGCTAGAGTTTGGCATGTCAGAGAAATCATAAAGGAAAATGTTTTAAGTGAGAGGCTGAATTTAACAAGCTATAGAGATATAGAGAAATAGTGTAAAGAATATGCACATACATTTTTATTACTTTAGTAAATAAAACGGTTCAGGCAATTTGACATTTATTGAATAAAGAAAAGCAAAAATTTAACAATAAGAACACAAGAAGATAAAATGTAGAAAAGTTAGAATTATATGCTCACCTCAGAGTAATATATACCAGTGTTTCTGGTGACCAAATAAATATTAATGCATTTCTTCCACACGAAACTATGGAGGACAGTTTACATTTCTGATATCCATGACATACAGGTCATACTTAAATTTATTATTAATTGATACGATATTTGAAATATTGGGAAGAAATTCCTTTCCTTATGAAGAAGAAATCCCTAGCTGAAACTAATGTAAGGAGCCAGACAGTATGAATGCCTCTGCAATTGATAAAGTTAAGGATTTACTATTAAATTATGATAAAGAAATAGAAAGTGCATAGAAGAACCCAGATATTGCGGAAGTAATTCATGTAATCATTACCTTTTGAAGCCACATGATGTCGCTGTCTACCAAGAAGTTCTGGTTGGTCAATGTTCAAAGTCTTTTCTCTGACAGCATCTGTCTCTAAAGGCCGAACAACGGGAGATGCAGCGGAATTGGATTAAAAGACTCTGAAAGTACAGTCGTTCATCTTTATATTAAGATAATATTTTCTGATAGGAAACGACTATTTAACATGGATTATCACTGGCGAGGAGAGCTGGGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAGCCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCCAAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGGACCTTCTGGAGGTAAGTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGATGTTAATGACAACCCGCCAGTGTTCCGGGTAAAAGACCAAAAGCTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGGCGCGTCCGATGCAGATGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTAGCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAATAAACTGGTTGAGCTCGTATTAAGAAAATCCTTGGACAGAGAGGACGCTCCTGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCACAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCTCCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGACAACGGAACAACAGTTATCAAACTGAATGCTTCTGATCCGGATGAAGGAGCCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTTATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGGTAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCACGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGAATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATCCTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTAGCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTGATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGTTGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCTGGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCAGCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTGATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAACTCATAAATTCTATTTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGATTTAGTTTTTCACCGTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTTTAGAAACCTTTTATAATTAATTGAATTTTCTCAGTGGCATAATACAGTATTAATCATTCTCCACAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGGATGATATCCATTTTTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGTCTTCTCTGAACAATACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTGAAAGTATTCCCCCAAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCTTAATCTTACTCCATATGCTGTACTTTGAAATGCATGTTTTAAATATGTTGTCTTTATATTTACTTTTATTCACTTTAAGATCTCGGTTTATTCATCTTATCTGACTTTTTAGTGTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATTGCCGTTTTAAGCAGTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAAAATTTGATAGTTTTCATATTCTTCCTAATTTTATTATAAACTAGTTAAAAAGTAAAATCAAGAGGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATTTAGACCATTTTACCATTTGGAGACATGTTTTTTATTCTACATGATTTTTACAGTTGTATTGTCGCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAAATGATTACTTTATTCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCCTTTGTTCATGAGTTGGAATATTTTCAATAATATTCCACATTAAAGTGATATTTAATATATGACTTAGAAAAATGTTTTCATCAGAAAAACTATACATGATAATTTCATTCTTGCAAACCAAACATATAATTTATAAATCCTTATTATACAGAATATTTGGGATTATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTATTATGGGATAAATCTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTTCAACATTTTCTTTCTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCTTGTGACTGTTGGACCTGCCTGGATATTAAATACCCATTAGACTTCGTGCATATTGCTTTGGAGAGAATGGTAGAAATTGATGGAAGGGAATGAACGATTTCTGGGACTCTGAATTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTTTAATCACTTATGAACAAATAATGTAATCATTTATGGGCATATTTTAGCCCCCTTGTCCAACTGAAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATTTTACAGTTCTCTTAATGCCTGTCCATGTTTAGCATTTTATTTGACTATTTGAACACATTGTGTAAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAATATGATTGTTTTCATTTAAGTCCTTTTAAAAAATATGATTATCTTTATTATCCTGTTTGAATAATATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCCTGTCTATGTCTACCTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCCTAAACATTTAATTGACTTTTACAAAATATCATAAATAGGAGGATTCTTTCCACCACCTAGCATTGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTCTGTTTTTCTTCAACTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAGTGAGAAAGTCTAAACCTATTTCTTGTACATTAATACTTTTCACTATTCTAATTATGGTGATGCTTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTCAGAAGTTAGTTATTAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTCCTCCCTTTACCAATTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTATTCAGTTCCTTGGCATTATATGTATGCATGATAAATGTGAATTCTACTTTATAGATTTATTTGTATCAAGTAAGTTAATAGTTATAAATTATTAATAATAAACTCTGGCAAGTGATAGGTACATAATAAAATTTAGTTATTACCATTCTTAAGAGAAAAGAAGTTAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAGTCGTTATGGCCTTCCATATTAATCTTATTTTTGTGTAAAACTATCTTCTGTAAAGTCATTTTTTAGATTAACCTAGGATGTTTCAATATTTTGAATGTTGTGTGGTGGAATGAAAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCAAGTTAACACCACCTATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCCTTCCAAGGAATGTGTAGACTATCTTACTTTGATAGTTGTATGTTTCCCATATTTAAAAGTTGCCTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTTCTTTGTATGTATGAGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAGTATACAATAATGTTTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTCTATGAATTAAGTAAACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAAGTGCTTTCTCTTTTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTAGCAAGTAGAGAAGATTGTAATAACCAGTCTTCATTAAACATTAAATAGGACCCTTACAGATCTCTAACAGCATATCATCATGTCAGGAATTATTACTGAGCCCCAGCCCCTGGCTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCACACAATGCAAGGCAAGATAATGTAACAGGTACAAGAGGTAAATCAGAATGACGTTGAAGTTGAAAGACAATCATTTCCTATTTGAATTTTTGAAGAAATACTTGAAGGGGCATGGTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCCCGGGAGAATATTGAGAATGATAGACATTTCTTGGAAAGAGAAAACATAAGGAAAGTTGAAGACACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACTTTGGTTAAAACACACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTAAGAAGATCTCTTGATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTAAGGAATTTGGCCACTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTGAGCAAAATAAATCACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACTCAGAAGCTCCTGCAGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTCTTAGGCTGTTATCAGTAGAAATACGAAATAAAAGATAAATATGCAAAAACATTAATGGCACAATAAACACTCACGGTTTTGCCTTTAGACTTGAGATACACTAAAATCTAGATTTAATTAATCGACTTGGACGTTGGAATAAGATAGTAAAACTCACAACAAAACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCATAGCTTTAAAAACAGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGAAATTAAAACATATTGTAATAACATTACACAAACTATATTGGAGACTACAAAGAAGAGATTATTCATAGATTATAAAGCTTGGAAAGAATCAAAACAACACATTTCTGGAAACAGATTGTATAAATGCTACAAAAGAGAAAAATATATTTTCTCCCCACGCAACACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAATATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTTTGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTTTTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTACACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGAATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATTGTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGGAGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTTCTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTCCCAGC	BUFFER|p.P153S|c.457C>T|4,BUFFER|p.P153S|c.457C>T|4,BUFFER|p.L352I|c.1054C>A|22,BUFFER|p.L352I|c.1054C>A|22,BUFFER|p.A427T|c.1279G>A|3,BUFFER|p.A427T|c.1279G>A|3,BUFFER|p.R428W|c.1282C>T|3,BUFFER|p.R428W|c.1282C>T|3,BUFFER|p.W436C|c.1308G>T|3,BUFFER|p.W436C|c.1308G>T|3,BUFFER|p.A437S|c.1309G>T|3,BUFFER|p.A437S|c.1309G>T|3,BUFFER|p.A452T|c.1354G>A|3,BUFFER|p.A452T|c.1354G>A|3,BUFFER|p.A576T|c.1726G>A|3,BUFFER|p.A576T|c.1726G>A|3,BUFFER|p.R623H|c.1868G>A|3,BUFFER|p.R623H|c.1868G>A|3,BUFFER|p.T633T|c.1899G>A|3,BUFFER|p.T633T|c.1899G>A|3,BUFFER|p.A703T|c.2107G>A|3,BUFFER|p.A703T|c.2107G>A|3,BUFFER|p.R13Q|c.38G>A|3,BUFFER|p.R13Q|c.38G>A|3,BUFFER|p.I48I|c.144C>T|3,BUFFER|p.I48I|c.144C>T|3,BUFFER|p.S78N|c.233G>A|5,BUFFER|p.S78N|c.233G>A|5,BUFFER|p.I90I|c.270C>T|3,BUFFER|p.G97R|c.289G>C|5,BUFFER|p.G97R|c.289G>C|5,BUFFER|p.E188E|c.564G>A|3,BUFFER|p.E188E|c.564G>A|3,BUFFER|p.E243K|c.727G>A|3,BUFFER|p.E243K|c.727G>A|3,BUFFER|p.G300E|c.899G>A|3,BUFFER|p.G300E|c.899G>A|3,BUFFER|p.A370T|c.1108G>A|3,BUFFER|p.A370T|c.1108G>A|3,BUFFER|p.R417S|c.1251A>C|3,BUFFER|p.R417S|c.1251A>C|3,BUFFER|p.L435L|c.1305G>C|3,BUFFER|p.L435L|c.1305G>C|3,BUFFER|p.A562V|c.1685C>T|3,BUFFER|p.A562V|c.1685C>T|3,BUFFER|p.K579E|c.1735A>G|5,BUFFER|p.K579E|c.1735A>G|5,BUFFER|p.D598D|c.1794C>T|4,BUFFER|p.D598D|c.1794C>T|4,BUFFER|p.S608L|c.1823C>T|4,BUFFER|p.S608L|c.1823C>T|5,BUFFER|p.R635H|c.1904G>A|3,BUFFER|p.R635H|c.1904G>A|3,BUFFER|p.E639K|c.1915G>A|5,BUFFER|p.E639K|c.1915G>A|5,BUFFER|p.A640A|c.1920G>A|3,BUFFER|p.A640A|c.1920G>A|3,BUFFER|p.S642C|c.1925C>G|6,BUFFER|p.S642C|c.1925C>G|6	.	.	.	.	.	ENSP00000434655	.	1/4	.	.	.	.	.	.	.	.	.	1/4	PASS	ENST00000531613	Transcript	.	.	ENSG00000204962	8674	.	.	HIGH	1/3	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PCDA8_HUMAN	PCDHA8	HGNC	.	.	UPI00001273D0	deletion	PCDHA8,transcript_ablation,,ENST00000378123,;PCDHA8,splice_donor_variant,,ENST00000531613,;PCDHA7,splice_donor_variant,,ENST00000525929,;PCDHA7,coding_sequence_variant,,ENST00000378125,;PCDHA9,coding_sequence_variant,,ENST00000378122,;PCDHA9,coding_sequence_variant,,ENST00000532602,;PCDHA1,intron_variant,,ENST00000504120,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA2,intron_variant,,ENST00000526136,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,intron_variant,,ENST00000529310,;PCDHA5,intron_variant,,ENST00000529859,;PCDHA4,intron_variant,,ENST00000530339,;PCDHA1,intron_variant,,ENST00000394633,;PCDHA3,intron_variant,,ENST00000522353,;PCDHA6,intron_variant,,ENST00000527624,;	.	335	349	FAILED
NDUFC2	4718	.	GRCh37	11	77780754	77780755	+	3_prime_UTR_variant	3'UTR	DEL	TT	TT	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	24	0	ENST00000281031.4:c.*278_*279del			ENST00000281031	NM_004549.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8257.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGAGACTTTATTG	NONE	.	.	.	.	.	ENSP00000281031	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000281031	Transcript	.	.	ENSG00000151366	7706	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NDUC2_HUMAN	NDUFC2	HGNC	.	.	UPI000012FC27	deletion	NDUFC2,3_prime_UTR_variant,,ENST00000281031,;NDUFC2,3_prime_UTR_variant,,ENST00000527806,;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2-KCTD14,intron_variant,,ENST00000530054,;NDUFC2,downstream_gene_variant,,ENST00000534029,;NDUFC2,downstream_gene_variant,,ENST00000528164,;THRSP,downstream_gene_variant,,ENST00000281030,;NDUFC2,downstream_gene_variant,,ENST00000525085,;	1113-1114	24	36	SUCCESS
GRM5	2915	.	GRCh37	11	88241726	88241726	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs114055826	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	65	1	ENST00000305447.4:c.*34G>C			ENST00000305447	NM_001143831.2			0	T:0.0093	T:0.0129	.	T:0	.	G	.	protein_coding	YES	CCDS44694.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCTCCGCACG	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0001	ENSP00000402912	T:0	10/10	.	.	.	.	.	.	.	.	rs114055826	10/10	PASS	ENST00000418177	Transcript	.	T:0.0034	ENSG00000168959	4597	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	GRM5_HUMAN	GRM5	HGNC	.	.	UPI000012F081	SNV	GRM5,3_prime_UTR_variant,,ENST00000305447,;GRM5,3_prime_UTR_variant,,ENST00000305432,;GRM5,3_prime_UTR_variant,,ENST00000418177,;GRM5,3_prime_UTR_variant,,ENST00000455756,;GRM5,downstream_gene_variant,,ENST00000393297,;GRM5-AS1,non_coding_transcript_exon_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;	4041	67	53	SUCCESS
ZNF664	144348	.	GRCh37	12	124498294	124498294	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	15	138	0	ENST00000337815.4:c.*817A>G			ENST00000337815				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9257.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCAGAATTGC	NONE	.	.	.	.	.	ENSP00000441405	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000539644	Transcript	.	.	ENSG00000179195	25406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN664_HUMAN	ZNF664	HGNC	.	.	UPI0000023E91	SNV	ZNF664,3_prime_UTR_variant,,ENST00000539644,;ZNF664,3_prime_UTR_variant,,ENST00000392404,;ZNF664,3_prime_UTR_variant,,ENST00000538932,;ZNF664,3_prime_UTR_variant,,ENST00000337815,;FAM101A,intron_variant,,ENST00000540762,;FAM101A,intron_variant,,ENST00000545615,;ZNF664,downstream_gene_variant,,ENST00000542493,;ZNF664,downstream_gene_variant,,ENST00000541448,;ZNF664,downstream_gene_variant,,ENST00000539501,;ZNF664,downstream_gene_variant,,ENST00000537532,;ZNF664,downstream_gene_variant,,ENST00000543017,;ZNF664,downstream_gene_variant,,ENST00000546098,;	3433	138	141	SUCCESS
RNU6-1191P	106481555	.	GRCh37	16	81142838	81142838	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs371414934	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	16	61	0				ENST00000516799				0	T:0.0003	.	.	.	.	T	.	snRNA	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCATCGTCTC	NONE	byFrequency|byCluster	2594	.	.	T:0	.	.	.	.	.	.	.	.	.	.	.	rs371414934	.	PASS	ENST00000516799	Transcript	.	.	ENSG00000252608	48154	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RNU6-1191P	HGNC	.	.	.	SNV	RNU6-1191P,upstream_gene_variant,,ENST00000516799,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534142,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534447,;PKD1L2,missense_variant,p.Arg2349Gln,ENST00000525539,;PKD1L2,missense_variant,p.Arg1664Gln,ENST00000533478,;	.	61	74	SUCCESS
MEGF8	1954	.	GRCh37	19	42830284	42830284	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	13	65	0				ENST00000251268				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12604.2	.	MUTECT|MUSE	.	TACAAGGTCAT	NONE	.	.	.	.	.	ENSP00000334219	.	1/41	.	.	.	.	.	.	.	.	.	1/41	PASS	ENST00000334370	Transcript	1	.	ENSG00000105429	3233	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MEGF8_HUMAN	MEGF8	HGNC	.	.	UPI00003CF1A7	SNV	MEGF8,5_prime_UTR_variant,,ENST00000334370,;TMEM145,downstream_gene_variant,,ENST00000598766,;TMEM145,downstream_gene_variant,,ENST00000301204,;TMEM145,downstream_gene_variant,,ENST00000601644,;MEGF8,upstream_gene_variant,,ENST00000251268,;	524	65	64	SUCCESS
WDR18	57418	.	GRCh37	19	992023	992023	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs766456806	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	14	52	0				ENST00000585809		334		0	.	.	.	.	.	G	L/V	protein_coding	YES	CCDS12051.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCTGCCG	NONE	.	.	hmmpanther:PTHR18763	.	.	ENSP00000251289	.	8/10	.	.	.	.	.	.	.	.	rs766456806	8/10	PASS	ENST00000251289	Transcript	.	.	ENSG00000065268	17956	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.009)	.	tolerated(0.59)	.	WDR18_HUMAN	WDR18	HGNC	.	.	UPI000013CCF7	SNV	WDR18,missense_variant,p.Leu296Val,ENST00000607440,;WDR18,missense_variant,p.Leu334Val,ENST00000251289,;WDR18,missense_variant,p.Leu334Val,ENST00000587001,;WDR18,3_prime_UTR_variant,,ENST00000590354,;WDR18,downstream_gene_variant,,ENST00000591997,;WDR18,3_prime_UTR_variant,,ENST00000591985,;WDR18,downstream_gene_variant,,ENST00000591276,;WDR18,downstream_gene_variant,,ENST00000586317,;WDR18,downstream_gene_variant,,ENST00000585809,;WDR18,upstream_gene_variant,,ENST00000591155,;WDR18,downstream_gene_variant,,ENST00000590397,;	1023	52	49	SUCCESS
RALGPS2	55103	.	GRCh37	1	178885526	178885534	+	3_prime_UTR_variant	3'UTR	DEL	GCTTCTACG	GCTTCTACG	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	GCTTCTACG	GCTTCTACG	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	38	0	ENST00000367635.3:c.*32_*40del			ENST00000367635	NM_152663.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1325.1	.	VARSCANI*|PINDEL	.	ACTGTTGCTTCTACGTGAGC	NONE	.	.	.	.	.	ENSP00000356607	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000367635	Transcript	.	.	ENSG00000116191	30279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RGPS2_HUMAN	RALGPS2	HGNC	.	.	UPI000000DBE1	deletion	RALGPS2,3_prime_UTR_variant,,ENST00000367635,;RALGPS2,3_prime_UTR_variant,,ENST00000367634,;RALGPS2,downstream_gene_variant,,ENST00000478871,;	2122-2130	38	31	SUCCESS
CCNA2	890	.	GRCh37	4	122738783	122738786	+	3_prime_UTR_variant	3'UTR	DEL	TCTT	TCTT	-	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	TCTT	TCTT	.	.	.	.	.	.	.	.	.	.	.	.	.	58	16	83	0	ENST00000274026.5:c.*7_*10del			ENST00000274026	NM_001237.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS3723.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCAGTCTTTCATT	NONE	.	.	.	.	.	ENSP00000274026	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000274026	Transcript	.	.	ENSG00000145386	1578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CCNA2_HUMAN	CCNA2	HGNC	.	.	UPI000013D9E8	deletion	CCNA2,3_prime_UTR_variant,,ENST00000274026,;EXOSC9,downstream_gene_variant,,ENST00000379663,;EXOSC9,downstream_gene_variant,,ENST00000243498,;EXOSC9,downstream_gene_variant,,ENST00000512454,;EXOSC9,downstream_gene_variant,,ENST00000511132,;EXOSC9,downstream_gene_variant,,ENST00000503139,;EXOSC9,downstream_gene_variant,,ENST00000508212,;EXOSC9,downstream_gene_variant,,ENST00000509980,;EXOSC9,downstream_gene_variant,,ENST00000503236,;EXOSC9,downstream_gene_variant,,ENST00000513654,;	1610-1613	83	74	SUCCESS
SCAF8	22828	.	GRCh37	6	155154681	155154681	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	5	28	0	ENST00000367178.3:c.*152A>G			ENST00000367178	NM_014892.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5247.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACAACTGAC	NONE	.	.	.	.	.	ENSP00000356146	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000367178	Transcript	.	.	ENSG00000213079	20959	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCAF8_HUMAN	SCAF8	HGNC	Q9H8B2_HUMAN,Q8NDE9_HUMAN	.	UPI0000070A1C	SNV	SCAF8,3_prime_UTR_variant,,ENST00000367186,;SCAF8,3_prime_UTR_variant,,ENST00000367178,;SCAF8,3_prime_UTR_variant,,ENST00000417268,;TIAM2,intron_variant,,ENST00000461783,;TIAM2,intron_variant,,ENST00000460692,;TIAM2,intron_variant,,ENST00000535064,;	4544	28	24	SUCCESS
CA13	377677	.	GRCh37	8	86193750	86193750	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1390940638	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	11	0	ENST00000321764.3:c.*172A>T			ENST00000321764	NM_198584.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6236.1	.	MUTECT|MUSE	.	TTTTTATTTTT	NONE	.	.	.	.	.	ENSP00000318912	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000321764	Transcript	.	.	ENSG00000185015	14914	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAH13_HUMAN	CA13	HGNC	.	.	UPI000004BEFC	SNV	CA13,3_prime_UTR_variant,,ENST00000321764,;	1263	11	30	SUCCESS
ZBTB5	9925	.	GRCh37	9	37440504	37440504	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-K7-AAU7-01	TCGA-K7-AAU7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	10	30	0	ENST00000307750.4:c.*11T>G			ENST00000307750	NM_014872.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6610.1	.	MUTECT|MUSE	.	TTGTAAGGACA	NONE	.	.	.	.	.	ENSP00000307604	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307750	Transcript	.	.	ENSG00000168795	23836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZBTB5_HUMAN	ZBTB5	HGNC	Q5T942_HUMAN	.	UPI000006FAE2	SNV	ZBTB5,3_prime_UTR_variant,,ENST00000307750,;GRHPR,downstream_gene_variant,,ENST00000318158,;GRHPR,downstream_gene_variant,,ENST00000491488,;GRHPR,downstream_gene_variant,,ENST00000460882,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;GRHPR,downstream_gene_variant,,ENST00000497693,;	2234	30	36	SUCCESS
HABP2	3026	.	GRCh37	10	115348856	115348856	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs370916996	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	69	0	ENST00000351270.3:c.*728A>G			ENST00000351270	NM_004132.3			0	T:0.0009	T:0.0008	.	T:0	.	G	.	protein_coding	YES	CCDS7577.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATACCCCA	NONE	byCluster|by1000G	.	.	T:0	T:0	ENSP00000277903	T:0	13/13	.	.	.	.	.	.	.	.	rs370916996	13/13	PASS	ENST00000351270	Transcript	.	T:0.0002	ENSG00000148702	4798	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	HABP2_HUMAN	HABP2	HGNC	.	.	UPI0000049411	SNV	HABP2,3_prime_UTR_variant,,ENST00000351270,;HABP2,3_prime_UTR_variant,,ENST00000542051,;NRAP,intron_variant,,ENST00000369360,;NRAP,intron_variant,,ENST00000369358,;NRAP,intron_variant,,ENST00000360478,;NRAP,intron_variant,,ENST00000359988,;	2507	69	50	SUCCESS
MUC19	283463	.	GRCh37	12	40942416	40942416	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	152	58	168	0	ENST00000454784.4:c.*6491C>A			ENST00000454784				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCACCTAGCA	NONE	.	.	.	.	.	ENSP00000476404	.	63/84	.	.	.	.	.	.	.	.	.	63/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,upstream_gene_variant,,ENST00000542482,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,downstream_gene_variant,,ENST00000492952,;MUC19,missense_variant,p.Pro238His,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000541039,;	18117	168	210	SUCCESS
SCNN1B	6338	.	GRCh37	16	23392309	23392309	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	10	0	ENST00000343070.2:c.*187G>T			ENST00000343070	NM_000336.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10609.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCACGGTGCT	NONE	.	.	.	.	.	ENSP00000345751	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000343070	Transcript	.	.	ENSG00000168447	10600	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SCNNB_HUMAN	SCNN1B	HGNC	B2R812_HUMAN	.	UPI0000135616	SNV	SCNN1B,3_prime_UTR_variant,,ENST00000343070,;SCNN1B,downstream_gene_variant,,ENST00000307331,;SCNN1B,downstream_gene_variant,,ENST00000568923,;SCNN1B,downstream_gene_variant,,ENST00000568085,;SCNN1B,downstream_gene_variant,,ENST00000564275,;	2286	10	14	SUCCESS
ST3GAL2	6483	.	GRCh37	16	70415588	70415588	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs774056917	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	12	54	0	ENST00000342907.2:c.*4G>A			ENST00000342907	NM_006927.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10890.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCCGGCTC	NONE	.	.	.	.	.	ENSP00000377257	.	6/6	.	.	.	.	.	.	.	.	rs774056917	6/6	PASS	ENST00000393640	Transcript	.	.	ENSG00000157350	10863	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA4B_HUMAN	ST3GAL2	HGNC	.	.	UPI0000001C5C	SNV	ST3GAL2,3_prime_UTR_variant,,ENST00000342907,;ST3GAL2,3_prime_UTR_variant,,ENST00000393640,;RP11-529K1.4,intron_variant,,ENST00000566960,;ST3GAL2,non_coding_transcript_exon_variant,,ENST00000567822,;	3165	54	46	SUCCESS
KCTD1	284252	.	GRCh37	18	24035552	24035552	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	14	0	ENST00000317932.7:c.*155C>T			ENST00000317932				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11888.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATATGAATAC	NONE	.	.	.	.	.	ENSP00000384367	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000408011	Transcript	.	.	ENSG00000134504	18249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCTD1_HUMAN	KCTD1	HGNC	J3KSG1_HUMAN	.	UPI00001CDFF1	SNV	KCTD1,3_prime_UTR_variant,,ENST00000580059,;KCTD1,3_prime_UTR_variant,,ENST00000579973,;KCTD1,3_prime_UTR_variant,,ENST00000317932,;KCTD1,3_prime_UTR_variant,,ENST00000417602,;KCTD1,3_prime_UTR_variant,,ENST00000408011,;KCTD1,downstream_gene_variant,,ENST00000580638,;KCTD1,downstream_gene_variant,,ENST00000580191,;KCTD1,downstream_gene_variant,,ENST00000578973,;KCTD1,downstream_gene_variant,,ENST00000582494,;KCTD1,downstream_gene_variant,,ENST00000577255,;	1489	14	15	SUCCESS
SAFB2	9667	.	GRCh37	19	5587086	5587086	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	22	0	ENST00000252542.4:c.*168C>T			ENST00000252542	NM_014649.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32879.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	AACAAGAACAC	NONE	.	.	.	.	.	ENSP00000252542	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000252542	Transcript	.	.	ENSG00000130254	21605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SAFB2_HUMAN	SAFB2	HGNC	.	.	UPI0000071DB7	SNV	SAFB2,3_prime_UTR_variant,,ENST00000252542,;SAFB2,downstream_gene_variant,,ENST00000587802,;SAFB2,downstream_gene_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000590000,;	3295	22	16	SUCCESS
FAM46C	0	.	GRCh37	1	118169250	118169250	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	56	0	ENST00000369448.3:c.*2584C>T			ENST00000369448	NM_017709.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS896.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTGCCTTTC	NONE	.	.	.	.	.	ENSP00000358458	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369448	Transcript	.	.	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	4007	56	54	SUCCESS
KIAA0754	23499	.	GRCh37	1	39880755	39880755	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	93	28	129	0	ENST00000530275.1:c.*534T>C			ENST00000530275	NM_015038.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTTACCAA	NONE	.	.	.	.	.	ENSP00000431179	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530275	Transcript	.	.	ENSG00000255103	29111	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K0754_HUMAN	KIAA0754	HGNC	.	.	UPI0000DD78B2	SNV	KIAA0754,3_prime_UTR_variant,,ENST00000530275,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000361689,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000482035,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000545844,;	4605	129	121	SUCCESS
CCDC66	285331	.	GRCh37	3	56655760	56655760	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	9	23	0	ENST00000394672.3:c.*114T>A			ENST00000394672	NM_001141947.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46852.1	.	MUTECT|MUSE	.	AATGCTCATTA	NONE	.	.	.	.	.	ENSP00000378167	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000394672	Transcript	.	.	ENSG00000180376	27709	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD66_HUMAN	CCDC66	HGNC	F8WCY0_HUMAN	.	UPI000020ADBC	SNV	CCDC66,3_prime_UTR_variant,,ENST00000394672,;CCDC66,3_prime_UTR_variant,,ENST00000326595,;CCDC66,3_prime_UTR_variant,,ENST00000436465,;FAM208A,3_prime_UTR_variant,,ENST00000431842,;CCDC66,downstream_gene_variant,,ENST00000422222,;FAM208A,downstream_gene_variant,,ENST00000355628,;FAM208A,downstream_gene_variant,,ENST00000493960,;FAM208A,downstream_gene_variant,,ENST00000485156,;CCDC66,3_prime_UTR_variant,,ENST00000471681,;CCDC66,3_prime_UTR_variant,,ENST00000341455,;CCDC66,non_coding_transcript_exon_variant,,ENST00000480884,;CCDC66,non_coding_transcript_exon_variant,,ENST00000476142,;FAM208A,non_coding_transcript_exon_variant,,ENST00000459993,;FAM208A,downstream_gene_variant,,ENST00000487036,;	3031	23	38	SUCCESS
C5orf24	134553	.	GRCh37	5	134194882	134194882	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	201	60	248	0				ENST00000338051	NM_152409.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4179.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGTCTCTAT	NONE	.	.	.	.	.	ENSP00000378427	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394976	Transcript	.	.	ENSG00000181904	26746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE024_HUMAN	C5orf24	HGNC	.	.	UPI000013FCBD	SNV	C5orf24,3_prime_UTR_variant,,ENST00000504727,;C5orf24,3_prime_UTR_variant,,ENST00000394976,;C5orf24,downstream_gene_variant,,ENST00000508791,;C5orf24,downstream_gene_variant,,ENST00000435259,;C5orf24,downstream_gene_variant,,ENST00000338051,;C5orf24,downstream_gene_variant,,ENST00000507390,;DDX46,downstream_gene_variant,,ENST00000507053,;AC006077.4,downstream_gene_variant,,ENST00000604746,;	4520	248	262	SUCCESS
KLRG2	346689	.	GRCh37	7	139138236	139138236	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	19	0	ENST00000340940.4:c.*97T>C			ENST00000340940	NM_198508.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5854.1	.	MUTECT|MUSE	.	GGATAACTGGG	NONE	.	.	.	.	.	ENSP00000339356	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000340940	Transcript	.	.	ENSG00000188883	24778	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLRG2_HUMAN	KLRG2	HGNC	.	.	UPI00001C0C37	SNV	KLRG2,3_prime_UTR_variant,,ENST00000393039,;KLRG2,3_prime_UTR_variant,,ENST00000340940,;RNU6-911P,downstream_gene_variant,,ENST00000516523,;	1397	19	15	SUCCESS
PENK	5179	.	GRCh37	8	57358646	57358646	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	17	59	0				ENST00000314922	NM_006211.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6168.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGGCCCC	NONE	.	57	.	.	.	ENSP00000324248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,intron_variant,,ENST00000451791,;PENK,intron_variant,,ENST00000518974,;PENK,intron_variant,,ENST00000523051,;PENK,intron_variant,,ENST00000518770,;PENK,upstream_gene_variant,,ENST00000314922,;PENK,upstream_gene_variant,,ENST00000517415,;RP11-17A4.2,non_coding_transcript_exon_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000523274,;PENK,non_coding_transcript_exon_variant,,ENST00000521153,;	.	59	44	SUCCESS
PENK	5179	.	GRCh37	8	57358647	57358647	+	upstream_gene_variant	5'Flank	SNP	G	G	T	rs962531021	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	58	0				ENST00000314922	NM_006211.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6168.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGGGGCCCCG	NONE	.	58	.	.	.	ENSP00000324248	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314922	Transcript	.	.	ENSG00000181195	8831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PENK_HUMAN	PENK	HGNC	E5RFR1_HUMAN	.	UPI00001315A9	SNV	PENK,intron_variant,,ENST00000451791,;PENK,intron_variant,,ENST00000518974,;PENK,intron_variant,,ENST00000523051,;PENK,intron_variant,,ENST00000518770,;PENK,upstream_gene_variant,,ENST00000314922,;PENK,upstream_gene_variant,,ENST00000517415,;RP11-17A4.2,non_coding_transcript_exon_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000523274,;PENK,non_coding_transcript_exon_variant,,ENST00000521153,;	.	58	42	SUCCESS
TPD52L3	89882	.	GRCh37	9	6330311	6330311	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	66	12	79	0	ENST00000344545.5:c.*1293T>A			ENST00000344545	NM_033516.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34986.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTCCTTTTCC	NONE	.	.	.	.	.	ENSP00000341677	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344545	Transcript	.	.	ENSG00000170777	23382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TPD55_HUMAN	TPD52L3	HGNC	.	.	UPI0000367601	SNV	TPD52L3,3_prime_UTR_variant,,ENST00000344545,;TPD52L3,3_prime_UTR_variant,,ENST00000381428,;TPD52L3,intron_variant,,ENST00000314556,;	1963	79	79	SUCCESS
C9orf47	1903	.	GRCh37	9	91609095	91609095	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-KR-A7K0-01	TCGA-KR-A7K0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	31	106	0	ENST00000334490.5:c.*2192G>A			ENST00000334490				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGCACGG	NONE	.	.	.	.	.	ENSP00000335616	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000334490	Transcript	.	.	ENSG00000186354	23669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CI047_HUMAN	C9orf47	HGNC	.	.	UPI00001C0EE0	SNV	C9orf47,3_prime_UTR_variant,,ENST00000334490,;C9orf47,3_prime_UTR_variant,,ENST00000375851,;S1PR3,intron_variant,,ENST00000358157,;C9orf47,downstream_gene_variant,,ENST00000375850,;S1PR3,upstream_gene_variant,,ENST00000375846,;	2869	106	105	SUCCESS
MBD6	114785	.	GRCh37	12	57923201	57923201	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs1300296631	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	3	6	12	0	ENST00000355673.3:c.*184A>C			ENST00000355673	NM_052897.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8944.1	.	MUTECT|MUSE	.	AGTTCACCCCC	NONE	.	.	.	.	.	ENSP00000347896	.	13/13	.	.	.	.	.	.	.	.	rs761406180	13/13	PASS	ENST00000355673	Transcript	.	.	ENSG00000166987	20445	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MBD6_HUMAN	MBD6	HGNC	F8VZD7_HUMAN,F8VVK7_HUMAN,F8VU14_HUMAN,F8VPC4_HUMAN,F8VNX1_HUMAN	.	UPI000012ED13	SNV	MBD6,3_prime_UTR_variant,,ENST00000355673,;MBD6,intron_variant,,ENST00000431731,;MBD6,downstream_gene_variant,,ENST00000552255,;DCTN2,downstream_gene_variant,,ENST00000550954,;DCTN2,downstream_gene_variant,,ENST00000550086,;MBD6,downstream_gene_variant,,ENST00000551351,;MBD6,downstream_gene_variant,,ENST00000552163,;DCTN2,downstream_gene_variant,,ENST00000537439,;DCTN2,downstream_gene_variant,,ENST00000546670,;MBD6,downstream_gene_variant,,ENST00000546805,;DCTN2,downstream_gene_variant,,ENST00000543672,;MBD6,downstream_gene_variant,,ENST00000546632,;MBD6,downstream_gene_variant,,ENST00000552659,;DCTN2,downstream_gene_variant,,ENST00000548249,;MBD6,downstream_gene_variant,,ENST00000548887,;DCTN2,downstream_gene_variant,,ENST00000550750,;DCTN2,downstream_gene_variant,,ENST00000546758,;DCTN2,downstream_gene_variant,,ENST00000434715,;MBD6,downstream_gene_variant,,ENST00000549623,;MBD6,downstream_gene_variant,,ENST00000549231,;DCTN2,downstream_gene_variant,,ENST00000548949,;DCTN2,downstream_gene_variant,,ENST00000551611,;DCTN2,downstream_gene_variant,,ENST00000546965,;MBD6,intron_variant,,ENST00000547844,;MBD6,intron_variant,,ENST00000547545,;DCTN2,downstream_gene_variant,,ENST00000549394,;DCTN2,downstream_gene_variant,,ENST00000551142,;MBD6,downstream_gene_variant,,ENST00000548550,;DCTN2,downstream_gene_variant,,ENST00000552390,;DCTN2,downstream_gene_variant,,ENST00000550988,;DCTN2,downstream_gene_variant,,ENST00000551872,;MBD6,downstream_gene_variant,,ENST00000549042,;DCTN2,downstream_gene_variant,,ENST00000548736,;DCTN2,downstream_gene_variant,,ENST00000550201,;	3552	12	9	SUCCESS
RAB37	326624	.	GRCh37	17	72741729	72741729	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	12	17	0	ENST00000392613.5:c.*179C>A			ENST00000392613	NM_001006638.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54161.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCCGCATCCA	NONE	.	.	.	.	.	ENSP00000376390	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000392614	Transcript	.	.	ENSG00000172794	30268	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB37_HUMAN	RAB37	HGNC	B3KPZ5_HUMAN	.	UPI0000E5A090	SNV	RAB37,3_prime_UTR_variant,,ENST00000392615,;RAB37,3_prime_UTR_variant,,ENST00000392613,;RAB37,3_prime_UTR_variant,,ENST00000392612,;RAB37,3_prime_UTR_variant,,ENST00000402449,;RAB37,3_prime_UTR_variant,,ENST00000528438,;RAB37,3_prime_UTR_variant,,ENST00000340415,;RAB37,3_prime_UTR_variant,,ENST00000392610,;RAB37,3_prime_UTR_variant,,ENST00000392614,;SLC9A3R1,upstream_gene_variant,,ENST00000583369,;SLC9A3R1,upstream_gene_variant,,ENST00000262613,;MIR3615,upstream_gene_variant,,ENST00000581999,;MIR3615,downstream_gene_variant,,ENST00000585285,;RAB37,non_coding_transcript_exon_variant,,ENST00000488977,;RAB37,non_coding_transcript_exon_variant,,ENST00000531420,;RAB37,non_coding_transcript_exon_variant,,ENST00000392617,;RAB37,intron_variant,,ENST00000481224,;RAB37,downstream_gene_variant,,ENST00000577548,;RAB37,downstream_gene_variant,,ENST00000533530,;RAB37,downstream_gene_variant,,ENST00000527040,;	959	17	17	SUCCESS
ZNF443	10224	.	GRCh37	19	12540714	12540714	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs3178677	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	11	0	ENST00000301547.5:c.*256G>C			ENST00000301547	NM_005815.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32918.1	.	SOMATICSNIPER|VARSCANS	.	TGAGACTATAC	NONE	byCluster|by1000G	.	.	.	.	ENSP00000301547	.	4/4	.	.	.	.	.	.	.	.	rs3178677	4/4	PASS	ENST00000301547	Transcript	.	.	ENSG00000180855	20878	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN443_HUMAN	ZNF443	HGNC	F8WDY2_HUMAN	.	UPI000020344A	SNV	ZNF443,3_prime_UTR_variant,,ENST00000301547,;CTD-3105H18.16,intron_variant,,ENST00000595562,;ZNF443,downstream_gene_variant,,ENST00000436821,;CTD-3105H18.18,downstream_gene_variant,,ENST00000598753,;	2470	11	16	SUCCESS
TNFAIP8L1	126282	.	GRCh37	19	4653210	4653210	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs930091306	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	114	6	91	0	ENST00000327473.4:c.*768G>A			ENST00000327473	NM_152362.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12132.1	.	MUTECT|MUSE	.	TACTCGGGAGG	NONE	.	.	.	.	.	ENSP00000444215	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000536716	Transcript	.	.	ENSG00000185361	28279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP8L1_HUMAN	TNFAIP8L1	HGNC	.	.	UPI000013EB11	SNV	TNFAIP8L1,3_prime_UTR_variant,,ENST00000536716,;TNFAIP8L1,3_prime_UTR_variant,,ENST00000327473,;C19orf10,intron_variant,,ENST00000599761,;C19orf10,downstream_gene_variant,,ENST00000262947,;AC005339.2,downstream_gene_variant,,ENST00000598070,;	1475	91	120	SUCCESS
PSMA5	5686	.	GRCh37	1	109969034	109969034	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	6	68	0				ENST00000271308	NM_002790.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS799.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCAGCCAACTC	NONE	.	61	.	.	.	ENSP00000271308	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000271308	Transcript	.	.	ENSG00000143106	9534	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSA5_HUMAN	PSMA5	HGNC	.	.	UPI0000026E6B	SNV	PSMA5,5_prime_UTR_variant,,ENST00000538610,;PSMA5,upstream_gene_variant,,ENST00000271308,;PSMA5,non_coding_transcript_exon_variant,,ENST00000484563,;PSMA5,upstream_gene_variant,,ENST00000490870,;	.	68	50	SUCCESS
SF3A3	10946	.	GRCh37	1	38423723	38423723	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	10	17	0	ENST00000373019.4:c.*135C>A			ENST00000373019	NM_006802.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS428.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCTTGTTTCT	NONE	.	.	.	.	.	ENSP00000362110	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000373019	Transcript	.	.	ENSG00000183431	10767	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SF3A3_HUMAN	SF3A3	HGNC	.	.	UPI0000135469	SNV	SF3A3,3_prime_UTR_variant,,ENST00000373019,;SF3A3,3_prime_UTR_variant,,ENST00000448721,;SF3A3,downstream_gene_variant,,ENST00000487062,;	2597	17	14	SUCCESS
ARL5A	26225	.	GRCh37	2	152659706	152659706	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	119	42	170	0	ENST00000295087.8:c.*84A>G			ENST00000295087	NM_012097.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2195.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATATATCTA	NONE	.	.	.	.	.	ENSP00000295087	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000295087	Transcript	.	.	ENSG00000162980	696	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL5A_HUMAN	ARL5A	HGNC	.	.	UPI0000125EE6	SNV	ARL5A,3_prime_UTR_variant,,ENST00000428992,;ARL5A,3_prime_UTR_variant,,ENST00000295087,;ARL5A,3_prime_UTR_variant,,ENST00000446896,;ARL5A,3_prime_UTR_variant,,ENST00000458140,;	936	170	162	SUCCESS
NEU4	129807	.	GRCh37	2	242758404	242758404	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	22	1	ENST00000391969.2:c.*30G>T			ENST00000391969	NM_001167602.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54441.1	.	SOMATICSNIPER|VARSCANS	.	CCCTTGGGTGC	NONE	.	.	.	.	.	ENSP00000320318	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000325935	Transcript	.	.	ENSG00000204099	21328	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEUR4_HUMAN	NEU4	HGNC	C9JRN9_HUMAN,C9J5X2_HUMAN,C9J2V4_HUMAN,B3KR54_HUMAN	.	UPI0000EE378E	SNV	NEU4,3_prime_UTR_variant,,ENST00000407683,;NEU4,3_prime_UTR_variant,,ENST00000325935,;NEU4,3_prime_UTR_variant,,ENST00000391969,;NEU4,3_prime_UTR_variant,,ENST00000405370,;NEU4,3_prime_UTR_variant,,ENST00000404257,;NEU4,downstream_gene_variant,,ENST00000435934,;NEU4,downstream_gene_variant,,ENST00000415936,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000420288,;NEU4,downstream_gene_variant,,ENST00000423583,;NEU4,downstream_gene_variant,,ENST00000426032,;NEU4,3_prime_UTR_variant,,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000406147,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000494678,;NEU4,downstream_gene_variant,,ENST00000476542,;	1953	23	23	SUCCESS
RAD54B	25788	.	GRCh37	8	95384388	95384389	+	3_prime_UTR_variant	3'UTR	INS	-	-	AATC	novel	.	TCGA-KR-A7K2-01	TCGA-KR-A7K2-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	73	9	43	0	ENST00000336148.5:c.*6_*9dup			ENST00000336148	NM_012415.3			0	.	.	.	.	.	AATC	.	protein_coding	YES	CCDS6262.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGAAGTAATCT	NONE	.	.	.	.	.	ENSP00000336606	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000336148	Transcript	.	.	ENSG00000197275	17228	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RA54B_HUMAN	RAD54B	HGNC	E5RHN9_HUMAN	.	UPI0000070088	insertion	RAD54B,3_prime_UTR_variant,,ENST00000336148,;RAD54B,non_coding_transcript_exon_variant,,ENST00000519348,;	2867-2868	43	82	SUCCESS
FPR3	2359	.	GRCh37	19	52329228	52329228	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	9	54	0	ENST00000339223.4:c.*1165T>G			ENST00000339223	NM_002030.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAGTCAGAC	NONE	.	.	.	.	.	ENSP00000341821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339223	Transcript	.	.	ENSG00000187474	3828	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FPR3_HUMAN	FPR3	HGNC	Q6L5J4_HUMAN	.	UPI000011DFC1	SNV	FPR3,3_prime_UTR_variant,,ENST00000339223,;FPR3,downstream_gene_variant,,ENST00000595991,;	2406	54	49	SUCCESS
PRKAB2	5565	.	GRCh37	1	146630962	146630962	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1169098847	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	8	15	0	ENST00000254101.3:c.*182C>T			ENST00000254101	NM_005399.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS925.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTCCGTGAAC	NONE	.	.	.	.	.	ENSP00000254101	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000254101	Transcript	.	.	ENSG00000131791	9379	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAKB2_HUMAN	PRKAB2	HGNC	.	.	UPI00001250AF	SNV	PRKAB2,3_prime_UTR_variant,,ENST00000254101,;PRKAB2,downstream_gene_variant,,ENST00000425272,;PRKAB2,non_coding_transcript_exon_variant,,ENST00000496858,;PRKAB2,downstream_gene_variant,,ENST00000474939,;	1140	15	15	SUCCESS
GPATCH4	54865	.	GRCh37	1	156571271	156571271	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs1035022540	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	77	16	79	0				ENST00000438976				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS44245.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGAAATGCCGT	NONE	.	9	.	.	.	ENSP00000396441	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000438976	Transcript	.	.	ENSG00000160818	25982	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	GPATCH4	HGNC	E9PAV9_HUMAN	.	UPI00001B55A9	SNV	GPATCH4,5_prime_UTR_variant,,ENST00000368232,;GPATCH4,5_prime_UTR_variant,,ENST00000415314,;GPATCH4,upstream_gene_variant,,ENST00000438976,;GPATCH4,upstream_gene_variant,,ENST00000334588,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000531129,;GPATCH4,upstream_gene_variant,,ENST00000497287,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000525375,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000506832,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000527691,;GPATCH4,upstream_gene_variant,,ENST00000498756,;GPATCH4,upstream_gene_variant,,ENST00000498641,;GPATCH4,upstream_gene_variant,,ENST00000529520,;GPATCH4,upstream_gene_variant,,ENST00000494414,;GPATCH4,upstream_gene_variant,,ENST00000473910,;GPATCH4,upstream_gene_variant,,ENST00000531900,;GPATCH4,upstream_gene_variant,,ENST00000474904,;GPATCH4,upstream_gene_variant,,ENST00000463513,;	.	79	93	SUCCESS
OSBPL2	9885	.	GRCh37	20	60869058	60869058	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs778013818	.	TCGA-KR-A7K7-01	TCGA-KR-A7K7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	19	0	ENST00000313733.3:c.*115G>A			ENST00000313733	NM_144498.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13495.1	.	MUTECT|MUSE	.	TTCGCGGAGAT	NONE	byFrequency	.	.	.	.	ENSP00000316649	.	14/14	.	.	.	.	.	.	.	.	rs778013818	14/14	PASS	ENST00000313733	Transcript	1	.	ENSG00000130703	15761	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSBL2_HUMAN	OSBPL2	HGNC	H0Y7X4_HUMAN	.	UPI0000130E96	SNV	OSBPL2,3_prime_UTR_variant,,ENST00000358053,;OSBPL2,3_prime_UTR_variant,,ENST00000313733,;OSBPL2,3_prime_UTR_variant,,ENST00000439951,;OSBPL2,non_coding_transcript_exon_variant,,ENST00000471817,;	1760	19	35	SUCCESS
ACAD8	27034	.	GRCh37	11	134134887	134134887	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs149252489	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	71	8	65	1	ENST00000281182.4:c.*33C>T			ENST00000281182	NM_014384.2			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS8498.1	.	MUTECT|MUSE|VARSCANS	.	CAGTGCGACTG	NONE	by1000G	.	.	T:0	.	ENSP00000281182	T:0.001	11/11	.	.	.	.	.	.	.	.	rs149252489	11/11	PASS	ENST00000281182	Transcript	.	T:0.0002	ENSG00000151498	87	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	T:0	.	.	ACAD8_HUMAN	ACAD8	HGNC	.	.	UPI00001251DD	SNV	ACAD8,3_prime_UTR_variant,,ENST00000281182,;ACAD8,3_prime_UTR_variant,,ENST00000374752,;ACAD8,downstream_gene_variant,,ENST00000543332,;ACAD8,downstream_gene_variant,,ENST00000524502,;ACAD8,downstream_gene_variant,,ENST00000537423,;ACAD8,downstream_gene_variant,,ENST00000524547,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,downstream_gene_variant,,ENST00000528325,;ACAD8,downstream_gene_variant,,ENST00000534433,;ACAD8,downstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000524426,;ACAD8,downstream_gene_variant,,ENST00000527713,;ACAD8,downstream_gene_variant,,ENST00000527665,;ACAD8,downstream_gene_variant,,ENST00000530533,;ACAD8,downstream_gene_variant,,ENST00000526026,;	1387	66	79	SUCCESS
NIN	51199	.	GRCh37	14	51190328	51190328	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	15	124	0				ENST00000382041	NM_016350.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32079.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCAACAACTG	NONE	.	2230	.	.	.	ENSP00000371472	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382041	Transcript	.	.	ENSG00000100503	14906	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NIN_HUMAN	NIN	HGNC	H7C162_HUMAN,E9PJH9_HUMAN	.	UPI0000DBEF14	SNV	NIN,missense_variant,p.Leu2085Phe,ENST00000245441,;NIN,missense_variant,p.Leu2085Phe,ENST00000530997,;NIN,3_prime_UTR_variant,,ENST00000389868,;NIN,downstream_gene_variant,,ENST00000324330,;NIN,downstream_gene_variant,,ENST00000382041,;NIN,downstream_gene_variant,,ENST00000389869,;NIN,downstream_gene_variant,,ENST00000530853,;NIN,downstream_gene_variant,,ENST00000382043,;NIN,downstream_gene_variant,,ENST00000453196,;RP11-248J18.3,downstream_gene_variant,,ENST00000602615,;NIN,3_prime_UTR_variant,,ENST00000476352,;NIN,non_coding_transcript_exon_variant,,ENST00000555984,;NIN,downstream_gene_variant,,ENST00000485005,;	.	124	103	SUCCESS
TRAF7	84231	.	GRCh37	16	2226683	2226683	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	24	0	ENST00000326181.6:c.*108G>A			ENST00000326181	NM_032271.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10461.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCATAGGTGGA	NONE	.	.	.	.	.	ENSP00000318944	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000326181	Transcript	.	.	ENSG00000131653	20456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRAF7_HUMAN	TRAF7	HGNC	H3BR17_HUMAN,D3DU86_HUMAN	.	UPI000014186F	SNV	TRAF7,3_prime_UTR_variant,,ENST00000326181,;CASKIN1,downstream_gene_variant,,ENST00000343516,;TRAF7,downstream_gene_variant,,ENST00000570169,;TRAF7,downstream_gene_variant,,ENST00000564067,;	2253	24	31	SUCCESS
SLC6A4	6532	.	GRCh37	17	28525359	28525359	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	5	35	0	ENST00000261707.3:c.*115A>T			ENST00000261707	NM_001045.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11256.1	.	MUTECT|MUSE	.	GGCCCTTCCAT	NONE	.	.	.	.	.	ENSP00000385822	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000401766	Transcript	.	.	ENSG00000108576	11050	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SC6A4_HUMAN	SLC6A4	HGNC	Q9NYN7_HUMAN,J3KPR9_HUMAN,B3VRW0_HUMAN,B3VRV5_HUMAN,B3VRV0_HUMAN,B3VRU5_HUMAN,B3VRU0_HUMAN,B3VRS5_HUMAN,B3VRS0_HUMAN,B3VRR5_HUMAN,B3VRR0_HUMAN,B3VRQ5_HUMAN,B3VRQ0_HUMAN	.	UPI0000135493	SNV	SLC6A4,3_prime_UTR_variant,,ENST00000261707,;SLC6A4,3_prime_UTR_variant,,ENST00000401766,;SLC6A4,downstream_gene_variant,,ENST00000394821,;SLC6A4,3_prime_UTR_variant,,ENST00000579221,;SLC6A4,downstream_gene_variant,,ENST00000578609,;	2521	35	38	SUCCESS
FCGR2C	9103	.	GRCh37	1	161562024	161562024	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs571047286	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	11	38	1				ENST00000543859				0	.	A:0	.	A:0.0043	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|VARSCANS	.	AAAGCGGATTT	NONE	byFrequency|by1000G	3319	.	A:0	.	ENSP00000444663	A:0	.	.	.	.	.	.	.	.	.	rs571047286	.	PASS	ENST00000543859	Transcript	.	A:0.0006	ENSG00000244682	15626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	.	FCGR2C	HGNC	Q8TEX8_HUMAN	.	UPI000006E0EC	SNV	FCGR2B,intron_variant,,ENST00000403078,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000428605,;FCGR2B,intron_variant,,ENST00000367962,;FCGR3A,intron_variant,,ENST00000540048,;FCGR2C,upstream_gene_variant,,ENST00000543859,;FCGR2C,non_coding_transcript_exon_variant,,ENST00000473530,;FCGR2C,non_coding_transcript_exon_variant,,ENST00000467903,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2C,downstream_gene_variant,,ENST00000502411,;FCGR2C,downstream_gene_variant,,ENST00000482226,;FCGR2C,downstream_gene_variant,,ENST00000473712,;FCGR2C,downstream_gene_variant,,ENST00000465075,;FCGR2C,upstream_gene_variant,,ENST00000507374,;FCGR2C,downstream_gene_variant,,ENST00000496692,;FCGR2C,missense_variant,p.Arg251Gln,ENST00000466542,;	.	39	38	SUCCESS
GPR3	2827	.	GRCh37	1	27722082	27722082	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	198	22	288	0	ENST00000374024.3:c.*787T>G			ENST00000374024	NM_005281.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS303.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCCATTTGGGG	NONE	.	.	.	.	.	ENSP00000363136	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000374024	Transcript	.	.	ENSG00000181773	4484	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPR3_HUMAN	GPR3	HGNC	F1DAM5_HUMAN	.	UPI0000001624	SNV	GPR3,3_prime_UTR_variant,,ENST00000374024,;	1879	288	220	SUCCESS
U91328.2	0	.	GRCh37	6	26045686	26045686	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs777821287	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	92	10	101	0				ENST00000454320		16		0	.	.	.	.	.	A	A	protein_coding	YES	CCDS4576.1	48	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGCTCCGCG	NONE	.	.	hmmpanther:PTHR11426,PROSITE_patterns:PS00322,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622	.	.	ENSP00000439493	.	1/1	.	.	.	.	.	.	.	.	rs777821287	1/1	PASS	ENST00000540144	Transcript	.	.	ENSG00000196532	4768	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3C	HGNC	.	.	UPI00000003C7	SNV	HIST1H3C,synonymous_variant,p.%3D,ENST00000540144,;HIST1H2BB,upstream_gene_variant,,ENST00000357905,;U91328.2,downstream_gene_variant,,ENST00000454320,;	48	101	102	SUCCESS
PRRC2A	7916	.	GRCh37	6	31610118	31610118	+	downstream_gene_variant	3'Flank	SNP	C	C	A	rs774659500	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	6	23	0				ENST00000376007	NM_080686.2	672		0	.	.	.	.	.	A	Q/H	protein_coding	YES	CCDS47403.1	2016	MUTECT|MUSE	.	GTCTGCTGCTC	NONE	byFrequency	.	Low_complexity_(Seg):seg,hmmpanther:PTHR15204	.	.	ENSP00000365131	.	15/25	.	.	.	.	.	.	.	.	rs774659500	15/25	PASS	ENST00000375964	Transcript	.	.	ENSG00000204463	13919	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	benign(0.146)	.	tolerated(0.08)	.	BAG6_HUMAN	BAG6	HGNC	F6TC96_HUMAN,F6RG75_HUMAN	.	UPI000047029D	SNV	BAG6,missense_variant,p.Gln666His,ENST00000375976,;BAG6,missense_variant,p.Gln666His,ENST00000362049,;BAG6,missense_variant,p.Gln702His,ENST00000437771,;BAG6,missense_variant,p.Gln672His,ENST00000375964,;BAG6,missense_variant,p.Gln666His,ENST00000211379,;BAG6,missense_variant,p.Gln702His,ENST00000404765,;BAG6,intron_variant,,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000435080,;PRRC2A,downstream_gene_variant,,ENST00000376033,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000453833,;BAG6,upstream_gene_variant,,ENST00000422948,;PRRC2A,downstream_gene_variant,,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,non_coding_transcript_exon_variant,,ENST00000470875,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,downstream_gene_variant,,ENST00000465348,;BAG6,downstream_gene_variant,,ENST00000462682,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;PRRC2A,downstream_gene_variant,,ENST00000492691,;BAG6,upstream_gene_variant,,ENST00000462875,;	2330	23	40	SUCCESS
CLDN15	24146	.	GRCh37	7	100875640	100875640	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	12	39	0	ENST00000308344.5:c.*51G>T			ENST00000308344	NM_014343.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGTCCCCTC	NONE	.	.	.	.	.	ENSP00000385300	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000401528	Transcript	.	.	ENSG00000106404	2036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD15_HUMAN	CLDN15	HGNC	.	.	UPI0000127AB6	SNV	CLDN15,3_prime_UTR_variant,,ENST00000401528,;CLDN15,3_prime_UTR_variant,,ENST00000308344,;CLDN15,downstream_gene_variant,,ENST00000412417,;CLDN15,downstream_gene_variant,,ENST00000414035,;CLDN15,downstream_gene_variant,,ENST00000433422,;CLDN15,downstream_gene_variant,,ENST00000433833,;CLDN15,downstream_gene_variant,,ENST00000463331,;	1864	39	42	SUCCESS
DMD	1756	.	GRCh37	X	31139861	31139861	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs418795	.	TCGA-KR-A7K8-01	TCGA-KR-A7K8-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	9	0	ENST00000357033.4:c.*175C>A			ENST00000357033	NM_004007.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14233.1	.	MUSE|VARSCANS	.	ATATAGATTTA	NONE	byHapMap	.	.	.	.	ENSP00000354923	.	79/79	.	.	.	.	.	.	.	.	rs418795	79/79	PASS	ENST00000357033	Transcript	.	.	ENSG00000198947	2928	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	DMD	HGNC	Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN	.	UPI000049E111	SNV	DMD,3_prime_UTR_variant,,ENST00000357033,;DMD,3_prime_UTR_variant,,ENST00000358062,;DMD,3_prime_UTR_variant,,ENST00000378723,;DMD,3_prime_UTR_variant,,ENST00000343523,;DMD,3_prime_UTR_variant,,ENST00000378680,;DMD,3_prime_UTR_variant,,ENST00000378707,;DMD,3_prime_UTR_variant,,ENST00000474231,;DMD,3_prime_UTR_variant,,ENST00000378677,;DMD,3_prime_UTR_variant,,ENST00000361471,;DMD,3_prime_UTR_variant,,ENST00000359836,;DMD,3_prime_UTR_variant,,ENST00000541735,;DMD,3_prime_UTR_variant,,ENST00000378702,;DMD,intron_variant,,ENST00000481143,;	11440	9	16	SUCCESS
ZNF22	7570	.	GRCh37	10	45500030	45500030	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	96	152	0	ENST00000298299.3:c.*539A>G			ENST00000298299	NM_006963.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7211.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCACAGAT	NONE	.	.	.	.	.	ENSP00000298299	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298299	Transcript	.	.	ENSG00000165512	13012	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF22_HUMAN	ZNF22	HGNC	.	.	UPI0000001C08	SNV	ZNF22,3_prime_UTR_variant,,ENST00000298299,;C10orf25,upstream_gene_variant,,ENST00000298298,;CEP164P1,intron_variant,,ENST00000456938,;	1807	152	112	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103350078	103350078	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	26	0	ENST00000375735.2:c.*97T>A			ENST00000375735	NM_001080463.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTTCAAAA	NONE	.	97	.	.	.	ENSP00000381167	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,3_prime_UTR_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000375735,;DYNC2H1,downstream_gene_variant,,ENST00000398093,;DYNC2H1,downstream_gene_variant,,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000527252,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	.	26	30	SUCCESS
MMP26	56547	.	GRCh37	11	5013519	5013519	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	95	360	0	ENST00000300762.1:c.*47T>C			ENST00000300762	NM_021801.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7752.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATTGGAGG	NONE	.	.	.	.	.	ENSP00000369753	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000380390	Transcript	.	.	ENSG00000167346	14249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP26_HUMAN	MMP26	HGNC	.	.	UPI0000047AFC	SNV	MMP26,3_prime_UTR_variant,,ENST00000300762,;MMP26,3_prime_UTR_variant,,ENST00000380390,;MMP26,downstream_gene_variant,,ENST00000477339,;	1049	360	365	SUCCESS
YARS2	51067	.	GRCh37	12	32900026	32900055	+	3_prime_UTR_variant	3'UTR	DEL	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	-	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	44	0	ENST00000324868.8:c.*83_*112del			ENST00000324868	NM_001040436.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31770.1	.	INDELOCATOR|VARSCANI	.	AGTCCATTCTGTTTTTCTGATTTGCATAAGCAAAGGTCTAA	NONE	.	.	.	.	.	ENSP00000320658	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000324868	Transcript	.	.	ENSG00000139131	24249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYYM_HUMAN	YARS2	HGNC	.	.	UPI0000046058	deletion	YARS2,3_prime_UTR_variant,,ENST00000324868,;DNM1L,downstream_gene_variant,,ENST00000547312,;DNM1L,downstream_gene_variant,,ENST00000266481,;DNM1L,downstream_gene_variant,,ENST00000381000,;DNM1L,downstream_gene_variant,,ENST00000452533,;DNM1L,downstream_gene_variant,,ENST00000414834,;DNM1L,downstream_gene_variant,,ENST00000549701,;DNM1L,downstream_gene_variant,,ENST00000358214,;DNM1L,downstream_gene_variant,,ENST00000553257,;YARS2,non_coding_transcript_exon_variant,,ENST00000551673,;YARS2,downstream_gene_variant,,ENST00000548490,;DNM1L,downstream_gene_variant,,ENST00000546649,;DNM1L,downstream_gene_variant,,ENST00000553031,;DNM1L,downstream_gene_variant,,ENST00000546757,;DNM1L,downstream_gene_variant,,ENST00000547640,;	1545-1574	44	38	SUCCESS
IL17D	53342	.	GRCh37	13	21296153	21296153	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	30	0	ENST00000304920.3:c.*60C>A			ENST00000304920	NM_138284.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGCCTG	NONE	.	.	.	.	.	ENSP00000302924	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000304920	Transcript	.	.	ENSG00000172458	5984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL17D_HUMAN	IL17D	HGNC	.	.	UPI000006214D	SNV	IL17D,3_prime_UTR_variant,,ENST00000304920,;IL17D,downstream_gene_variant,,ENST00000468605,;	777	30	22	SUCCESS
RGCC	28984	.	GRCh37	13	42044728	42044728	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	80	0	ENST00000379359.3:c.*107G>C			ENST00000379359	NM_014059.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41880.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACGTGCACTC	NONE	.	.	.	.	.	ENSP00000368664	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000379359	Transcript	.	.	ENSG00000102760	20369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGCC_HUMAN	RGCC	HGNC	.	.	UPI000006D63E	SNV	RGCC,3_prime_UTR_variant,,ENST00000379359,;RGCC,downstream_gene_variant,,ENST00000487837,;	670	80	50	SUCCESS
ARL11	115761	.	GRCh37	13	50207679	50207679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	69	208	0	ENST00000282026.1:c.*2505A>T			ENST00000282026	NM_138450.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGAGCTGG	NONE	.	.	.	.	.	ENSP00000282026	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282026	Transcript	.	.	ENSG00000152213	24046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL11_HUMAN	ARL11	HGNC	.	.	UPI0000073EDE	SNV	ARL11,3_prime_UTR_variant,,ENST00000282026,;ARL11,downstream_gene_variant,,ENST00000490932,;	3431	208	159	SUCCESS
SYNE2	23224	.	GRCh37	14	64694471	64694471	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	21	0				ENST00000344113	NM_015180.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9761.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGGGAG	NONE	.	1306	.	.	.	ENSP00000350719	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	ESR2,3_prime_UTR_variant,,ENST00000555278,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000353772,;ESR2,intron_variant,,ENST00000554572,;ESR2,intron_variant,,ENST00000358599,;SYNE2,downstream_gene_variant,,ENST00000554584,;SYNE2,downstream_gene_variant,,ENST00000394768,;SYNE2,downstream_gene_variant,,ENST00000344113,;ESR2,downstream_gene_variant,,ENST00000557772,;SYNE2,downstream_gene_variant,,ENST00000358025,;SYNE2,downstream_gene_variant,,ENST00000554805,;ESR2,downstream_gene_variant,,ENST00000357782,;SYNE2,downstream_gene_variant,,ENST00000441438,;ESR2,downstream_gene_variant,,ENST00000553796,;SYNE2,downstream_gene_variant,,ENST00000458046,;SYNE2,downstream_gene_variant,,ENST00000555022,;SYNE2,downstream_gene_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000555002,;ESR2,intron_variant,,ENST00000344288,;SYNE2,downstream_gene_variant,,ENST00000555612,;SYNE2,downstream_gene_variant,,ENST00000553289,;SYNE2,downstream_gene_variant,,ENST00000554928,;	.	21	18	SUCCESS
C1QL1	10882	.	GRCh37	17	43037438	43037438	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	29	0	ENST00000253407.3:c.*118G>A			ENST00000253407	NM_006688.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11492.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGGGCGTCAT	NONE	.	.	.	.	.	ENSP00000253407	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000253407	Transcript	.	.	ENSG00000131094	24182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QRF_HUMAN	C1QL1	HGNC	.	.	UPI0000126BF5	SNV	C1QL1,3_prime_UTR_variant,,ENST00000253407,;	918	29	28	SUCCESS
EMR2	0	.	GRCh37	19	14846929	14846929	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1025033703	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	69	199	0	ENST00000315576.3:c.*119A>G			ENST00000315576	NM_013447.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32935.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTGACAT	NONE	.	.	.	.	.	ENSP00000319883	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,3_prime_UTR_variant,,ENST00000346057,;EMR2,3_prime_UTR_variant,,ENST00000353005,;EMR2,3_prime_UTR_variant,,ENST00000353876,;EMR2,3_prime_UTR_variant,,ENST00000392965,;EMR2,3_prime_UTR_variant,,ENST00000315576,;EMR2,3_prime_UTR_variant,,ENST00000392967,;EMR2,3_prime_UTR_variant,,ENST00000596991,;EMR2,downstream_gene_variant,,ENST00000594076,;EMR2,downstream_gene_variant,,ENST00000594294,;EMR2,downstream_gene_variant,,ENST00000595839,;ZNF333,downstream_gene_variant,,ENST00000540689,;EMR2,non_coding_transcript_exon_variant,,ENST00000360222,;	3043	199	149	SUCCESS
ZNF577	84765	.	GRCh37	19	52375730	52375730	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	22	0	ENST00000301399.5:c.*55A>G			ENST00000301399	NM_032679.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12842.2	.	MUTECT|MUSE	.	GGATATAATGG	NONE	.	.	.	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,3_prime_UTR_variant,,ENST00000451628,;ZNF577,3_prime_UTR_variant,,ENST00000420592,;ZNF577,3_prime_UTR_variant,,ENST00000301399,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,downstream_gene_variant,,ENST00000458390,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	1879	22	14	SUCCESS
SYS1	90196	.	GRCh37	20	43995834	43995834	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	44	0	ENST00000243918.5:c.*79A>T			ENST00000243918	NM_033542.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13351.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCAGCCCA	NONE	.	.	.	.	.	ENSP00000243918	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000243918	Transcript	.	.	ENSG00000204070	16162	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYS1_HUMAN	SYS1	HGNC	Q5QPU8_HUMAN,E7ETM6_HUMAN	.	UPI00000721D5	SNV	SYS1,3_prime_UTR_variant,,ENST00000243918,;SYS1,3_prime_UTR_variant,,ENST00000372727,;SYS1,3_prime_UTR_variant,,ENST00000414310,;SYS1,intron_variant,,ENST00000426004,;SYS1,downstream_gene_variant,,ENST00000453003,;SYS1,non_coding_transcript_exon_variant,,ENST00000479779,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;SYS1,3_prime_UTR_variant,,ENST00000457307,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1,downstream_gene_variant,,ENST00000461890,;	841	44	38	SUCCESS
DAZL	1618	.	GRCh37	3	16630010	16630010	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs897969672	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	117	0	ENST00000399444.2:c.*157C>A			ENST00000399444	NM_001351.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54556.1	.	MUTECT|MUSE	.	ATGAAGAACAG	NONE	.	.	.	.	.	ENSP00000250863	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000250863	Transcript	.	.	ENSG00000092345	2685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAZL_HUMAN	DAZL	HGNC	.	.	UPI0000412129	SNV	DAZL,3_prime_UTR_variant,,ENST00000399444,;DAZL,3_prime_UTR_variant,,ENST00000250863,;	1393	117	90	SUCCESS
SEC62	7095	.	GRCh37	3	169684454	169684454	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs942452602	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	65	0				ENST00000337002	NM_003262.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3210.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCACCGC	NONE	.	99	.	.	.	ENSP00000337688	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000337002	Transcript	.	.	ENSG00000008952	11846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEC62_HUMAN	SEC62	HGNC	D3DNQ1_HUMAN	.	UPI000007186C	SNV	SEC62,upstream_gene_variant,,ENST00000480708,;SEC62,upstream_gene_variant,,ENST00000337002,;RP11-379K17.4,non_coding_transcript_exon_variant,,ENST00000469301,;RP11-379K17.4,upstream_gene_variant,,ENST00000487580,;RP11-379K17.4,upstream_gene_variant,,ENST00000483289,;RP11-379K17.4,upstream_gene_variant,,ENST00000600502,;SEC62,non_coding_transcript_exon_variant,,ENST00000461933,;SEC62,upstream_gene_variant,,ENST00000481435,;SEC62,upstream_gene_variant,,ENST00000469515,;SEC62,upstream_gene_variant,,ENST00000487736,;SEC62,upstream_gene_variant,,ENST00000460513,;	.	65	57	SUCCESS
MASP1	5648	.	GRCh37	3	186937840	186937840	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	71	0	ENST00000337774.5:c.*19A>T			ENST00000337774	NM_001879.5			0	.	.	.	.	.	A	.	protein_coding	.	CCDS33907.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTGGGGC	NONE	.	.	.	.	.	ENSP00000336792	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000337774	Transcript	.	.	ENSG00000127241	6901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MASP1_HUMAN	MASP1	HGNC	C9JLU5_HUMAN	.	UPI0000161FB8	SNV	MASP1,3_prime_UTR_variant,,ENST00000337774,;	2509	71	61	SUCCESS
ZNF589	51385	.	GRCh37	3	48310280	48310280	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1357241826	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	112	0	ENST00000354698.3:c.*4C>T			ENST00000354698	NM_016089.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43085.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCCGAGGC	NONE	.	.	.	.	.	ENSP00000346729	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000354698	Transcript	.	.	ENSG00000164048	16747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN589_HUMAN	ZNF589	HGNC	Q59FS2_HUMAN	.	UPI0000190E9A	SNV	ZNF589,3_prime_UTR_variant,,ENST00000354698,;ZNF589,intron_variant,,ENST00000440261,;ZNF589,intron_variant,,ENST00000412564,;ZNF589,intron_variant,,ENST00000427617,;ZNF589,downstream_gene_variant,,ENST00000454212,;ZNF589,3_prime_UTR_variant,,ENST00000457782,;ZNF589,3_prime_UTR_variant,,ENST00000448461,;	1171	112	79	SUCCESS
CWC27	10283	.	GRCh37	5	64314355	64314355	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	17	0	ENST00000381070.3:c.*207A>T			ENST00000381070	NM_005869.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3982.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTAGCTGA	NONE	.	.	.	.	.	ENSP00000370460	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,3_prime_UTR_variant,,ENST00000381070,;RP11-307L14.2,upstream_gene_variant,,ENST00000606057,;RP11-307L14.1,upstream_gene_variant,,ENST00000607786,;CWC27,non_coding_transcript_exon_variant,,ENST00000545000,;	1843	17	21	SUCCESS
KHDRBS2	202559	.	GRCh37	6	62390799	62390799	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	49	0	ENST00000281156.4:c.*69C>G			ENST00000281156	NM_152688.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4963.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGTTGCT	NONE	.	.	.	.	.	ENSP00000281156	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000281156	Transcript	.	.	ENSG00000112232	18114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KHDR2_HUMAN	KHDRBS2	HGNC	.	.	UPI000004D256	SNV	KHDRBS2,3_prime_UTR_variant,,ENST00000281156,;RP1-240B8.3,non_coding_transcript_exon_variant,,ENST00000511849,;	1398	49	58	SUCCESS
FUT9	10690	.	GRCh37	6	96657166	96657166	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	146	0	ENST00000302103.5:c.*5055G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCTGTGTAG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	6461	146	114	SUCCESS
ASZ1	136991	.	GRCh37	7	117003530	117003530	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	10	28	0	ENST00000284629.2:c.*120del			ENST00000284629	NM_130768.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5772.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TCAAAATTTTTC	NONE	.	.	.	.	.	ENSP00000284629	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000284629	Transcript	.	.	ENSG00000154438	1350	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ASZ1_HUMAN	ASZ1	HGNC	C9JP59_HUMAN,B7ZM20_HUMAN	.	UPI0000070EE2	deletion	ASZ1,3_prime_UTR_variant,,ENST00000284629,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;ASZ1,downstream_gene_variant,,ENST00000450714,;	1611	28	40	SUCCESS
ZNF22	7570	.	GRCh37	10	45500030	45500030	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	96	77	0	ENST00000298299.3:c.*539A>G			ENST00000298299	NM_006963.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7211.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCACAGAT	NONE	.	.	.	.	.	ENSP00000298299	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000298299	Transcript	.	.	ENSG00000165512	13012	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF22_HUMAN	ZNF22	HGNC	.	.	UPI0000001C08	SNV	ZNF22,3_prime_UTR_variant,,ENST00000298299,;C10orf25,upstream_gene_variant,,ENST00000298298,;CEP164P1,intron_variant,,ENST00000456938,;	1807	77	112	SUCCESS
DYNC2H1	79659	.	GRCh37	11	103350078	103350078	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	19	0	ENST00000375735.2:c.*97T>A			ENST00000375735	NM_001080463.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44717.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGTTCAAAA	NONE	.	97	.	.	.	ENSP00000381167	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000398093	Transcript	.	.	ENSG00000187240	2962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYHC2_HUMAN	DYNC2H1	HGNC	.	.	UPI0000481AC7	SNV	DYNC2H1,3_prime_UTR_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000375735,;DYNC2H1,downstream_gene_variant,,ENST00000398093,;DYNC2H1,downstream_gene_variant,,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000527252,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	.	19	30	SUCCESS
MMP26	56547	.	GRCh37	11	5013519	5013519	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	270	95	242	0	ENST00000300762.1:c.*47T>C			ENST00000300762	NM_021801.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7752.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATTGGAGG	NONE	.	.	.	.	.	ENSP00000369753	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000380390	Transcript	.	.	ENSG00000167346	14249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP26_HUMAN	MMP26	HGNC	.	.	UPI0000047AFC	SNV	MMP26,3_prime_UTR_variant,,ENST00000300762,;MMP26,3_prime_UTR_variant,,ENST00000380390,;MMP26,downstream_gene_variant,,ENST00000477339,;	1049	242	365	SUCCESS
YARS2	51067	.	GRCh37	12	32900026	32900055	+	3_prime_UTR_variant	3'UTR	DEL	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	-	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	TTCTGTTTTTCTGATTTGCATAAGCAAAGG	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	22	0	ENST00000324868.8:c.*83_*112del			ENST00000324868	NM_001040436.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS31770.1	.	INDELOCATOR|VARSCANI	.	AGTCCATTCTGTTTTTCTGATTTGCATAAGCAAAGGTCTAA	NONE	.	.	.	.	.	ENSP00000320658	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000324868	Transcript	.	.	ENSG00000139131	24249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYYM_HUMAN	YARS2	HGNC	.	.	UPI0000046058	deletion	YARS2,3_prime_UTR_variant,,ENST00000324868,;DNM1L,downstream_gene_variant,,ENST00000547312,;DNM1L,downstream_gene_variant,,ENST00000266481,;DNM1L,downstream_gene_variant,,ENST00000381000,;DNM1L,downstream_gene_variant,,ENST00000452533,;DNM1L,downstream_gene_variant,,ENST00000414834,;DNM1L,downstream_gene_variant,,ENST00000549701,;DNM1L,downstream_gene_variant,,ENST00000358214,;DNM1L,downstream_gene_variant,,ENST00000553257,;YARS2,non_coding_transcript_exon_variant,,ENST00000551673,;YARS2,downstream_gene_variant,,ENST00000548490,;DNM1L,downstream_gene_variant,,ENST00000546649,;DNM1L,downstream_gene_variant,,ENST00000553031,;DNM1L,downstream_gene_variant,,ENST00000546757,;DNM1L,downstream_gene_variant,,ENST00000547640,;	1545-1574	22	38	SUCCESS
IL17D	53342	.	GRCh37	13	21296153	21296153	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	23	0	ENST00000304920.3:c.*60C>A			ENST00000304920	NM_138284.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGCCGCCTG	NONE	.	.	.	.	.	ENSP00000302924	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000304920	Transcript	.	.	ENSG00000172458	5984	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL17D_HUMAN	IL17D	HGNC	.	.	UPI000006214D	SNV	IL17D,3_prime_UTR_variant,,ENST00000304920,;IL17D,downstream_gene_variant,,ENST00000468605,;	777	23	22	SUCCESS
RGCC	28984	.	GRCh37	13	42044728	42044728	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	24	46	0	ENST00000379359.3:c.*107G>C			ENST00000379359	NM_014059.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41880.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACGTGCACTC	NONE	.	.	.	.	.	ENSP00000368664	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000379359	Transcript	.	.	ENSG00000102760	20369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RGCC_HUMAN	RGCC	HGNC	.	.	UPI000006D63E	SNV	RGCC,3_prime_UTR_variant,,ENST00000379359,;RGCC,downstream_gene_variant,,ENST00000487837,;	670	46	50	SUCCESS
ARL11	115761	.	GRCh37	13	50207679	50207679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	69	122	0	ENST00000282026.1:c.*2505A>T			ENST00000282026	NM_138450.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9419.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGAGCTGG	NONE	.	.	.	.	.	ENSP00000282026	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000282026	Transcript	.	.	ENSG00000152213	24046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARL11_HUMAN	ARL11	HGNC	.	.	UPI0000073EDE	SNV	ARL11,3_prime_UTR_variant,,ENST00000282026,;ARL11,downstream_gene_variant,,ENST00000490932,;	3431	122	159	SUCCESS
SYNE2	23224	.	GRCh37	14	64694471	64694471	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	15	0				ENST00000344113	NM_015180.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9761.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCCAGGGAG	NONE	.	1306	.	.	.	ENSP00000350719	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000358025	Transcript	.	.	ENSG00000054654	17084	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYNE2_HUMAN	SYNE2	HGNC	Q6MZP0_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN	.	UPI00003677E5	SNV	ESR2,3_prime_UTR_variant,,ENST00000555278,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000353772,;ESR2,intron_variant,,ENST00000554572,;ESR2,intron_variant,,ENST00000358599,;SYNE2,downstream_gene_variant,,ENST00000554584,;SYNE2,downstream_gene_variant,,ENST00000394768,;SYNE2,downstream_gene_variant,,ENST00000344113,;ESR2,downstream_gene_variant,,ENST00000557772,;SYNE2,downstream_gene_variant,,ENST00000358025,;SYNE2,downstream_gene_variant,,ENST00000554805,;ESR2,downstream_gene_variant,,ENST00000357782,;SYNE2,downstream_gene_variant,,ENST00000441438,;ESR2,downstream_gene_variant,,ENST00000553796,;SYNE2,downstream_gene_variant,,ENST00000458046,;SYNE2,downstream_gene_variant,,ENST00000555022,;SYNE2,downstream_gene_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000555002,;ESR2,intron_variant,,ENST00000344288,;SYNE2,downstream_gene_variant,,ENST00000555612,;SYNE2,downstream_gene_variant,,ENST00000553289,;SYNE2,downstream_gene_variant,,ENST00000554928,;	.	15	18	SUCCESS
C1QL1	10882	.	GRCh37	17	43037438	43037438	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	19	0	ENST00000253407.3:c.*118G>A			ENST00000253407	NM_006688.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11492.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGCGTCAT	NONE	.	.	.	.	.	ENSP00000253407	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000253407	Transcript	.	.	ENSG00000131094	24182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C1QRF_HUMAN	C1QL1	HGNC	.	.	UPI0000126BF5	SNV	C1QL1,3_prime_UTR_variant,,ENST00000253407,;	918	19	28	SUCCESS
EMR2	0	.	GRCh37	19	14846929	14846929	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1025033703	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	79	69	127	0	ENST00000315576.3:c.*119A>G			ENST00000315576	NM_013447.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32935.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCTGACAT	NONE	.	.	.	.	.	ENSP00000319883	.	21/21	.	.	.	.	.	.	.	.	.	21/21	nonpreferredpair	ENST00000315576	Transcript	.	.	ENSG00000127507	3337	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMR2_HUMAN	EMR2	HGNC	.	.	UPI000016393A	SNV	EMR2,3_prime_UTR_variant,,ENST00000346057,;EMR2,3_prime_UTR_variant,,ENST00000353005,;EMR2,3_prime_UTR_variant,,ENST00000353876,;EMR2,3_prime_UTR_variant,,ENST00000392965,;EMR2,3_prime_UTR_variant,,ENST00000315576,;EMR2,3_prime_UTR_variant,,ENST00000392967,;EMR2,3_prime_UTR_variant,,ENST00000596991,;EMR2,downstream_gene_variant,,ENST00000594076,;EMR2,downstream_gene_variant,,ENST00000594294,;EMR2,downstream_gene_variant,,ENST00000595839,;ZNF333,downstream_gene_variant,,ENST00000540689,;EMR2,non_coding_transcript_exon_variant,,ENST00000360222,;	3043	127	149	SUCCESS
ZNF577	84765	.	GRCh37	19	52375730	52375730	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	14	0	ENST00000301399.5:c.*55A>G			ENST00000301399	NM_032679.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12842.2	.	MUTECT|MUSE	.	GGATATAATGG	NONE	.	.	.	.	.	ENSP00000301399	.	7/7	.	.	.	.	.	.	.	.	.	7/7	nonpreferredpair	ENST00000301399	Transcript	.	.	ENSG00000161551	28673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN577_HUMAN	ZNF577	HGNC	K7EPC1_HUMAN,C9JX31_HUMAN,C9JUV0_HUMAN,C9JEI3_HUMAN	.	UPI000059D778	SNV	ZNF577,3_prime_UTR_variant,,ENST00000451628,;ZNF577,3_prime_UTR_variant,,ENST00000420592,;ZNF577,3_prime_UTR_variant,,ENST00000301399,;ZNF577,intron_variant,,ENST00000412216,;ZNF577,downstream_gene_variant,,ENST00000458390,;ZNF577,intron_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000586437,;ZNF577,intron_variant,,ENST00000477228,;	1879	14	14	SUCCESS
SYS1	90196	.	GRCh37	20	43995834	43995834	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	22	0	ENST00000243918.5:c.*79A>T			ENST00000243918	NM_033542.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13351.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTCCAGCCCA	NONE	.	.	.	.	.	ENSP00000243918	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000243918	Transcript	.	.	ENSG00000204070	16162	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYS1_HUMAN	SYS1	HGNC	Q5QPU8_HUMAN,E7ETM6_HUMAN	.	UPI00000721D5	SNV	SYS1,3_prime_UTR_variant,,ENST00000243918,;SYS1,3_prime_UTR_variant,,ENST00000372727,;SYS1,3_prime_UTR_variant,,ENST00000414310,;SYS1,intron_variant,,ENST00000426004,;SYS1,downstream_gene_variant,,ENST00000453003,;SYS1,non_coding_transcript_exon_variant,,ENST00000479779,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;SYS1,3_prime_UTR_variant,,ENST00000457307,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1,downstream_gene_variant,,ENST00000461890,;	841	22	38	SUCCESS
DAZL	1618	.	GRCh37	3	16630010	16630010	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs897969672	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	31	49	1	ENST00000399444.2:c.*157C>A			ENST00000399444	NM_001351.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54556.1	.	MUTECT|MUSE	.	ATGAAGAACAG	NONE	.	.	.	.	.	ENSP00000250863	.	11/11	.	.	.	.	.	.	.	.	.	11/11	nonpreferredpair	ENST00000250863	Transcript	.	.	ENSG00000092345	2685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DAZL_HUMAN	DAZL	HGNC	.	.	UPI0000412129	SNV	DAZL,3_prime_UTR_variant,,ENST00000399444,;DAZL,3_prime_UTR_variant,,ENST00000250863,;	1393	50	90	SUCCESS
SEC62	7095	.	GRCh37	3	169684454	169684454	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs942452602	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	23	46	0				ENST00000337002	NM_003262.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3210.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGGCACCGC	NONE	.	99	.	.	.	ENSP00000337688	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000337002	Transcript	.	.	ENSG00000008952	11846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEC62_HUMAN	SEC62	HGNC	D3DNQ1_HUMAN	.	UPI000007186C	SNV	SEC62,upstream_gene_variant,,ENST00000480708,;SEC62,upstream_gene_variant,,ENST00000337002,;RP11-379K17.4,non_coding_transcript_exon_variant,,ENST00000469301,;RP11-379K17.4,upstream_gene_variant,,ENST00000487580,;RP11-379K17.4,upstream_gene_variant,,ENST00000483289,;RP11-379K17.4,upstream_gene_variant,,ENST00000600502,;SEC62,non_coding_transcript_exon_variant,,ENST00000461933,;SEC62,upstream_gene_variant,,ENST00000481435,;SEC62,upstream_gene_variant,,ENST00000469515,;SEC62,upstream_gene_variant,,ENST00000487736,;SEC62,upstream_gene_variant,,ENST00000460513,;	.	46	57	SUCCESS
MASP1	5648	.	GRCh37	3	186937840	186937840	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	28	53	0	ENST00000337774.5:c.*19A>T			ENST00000337774	NM_001879.5			0	.	.	.	.	.	A	.	protein_coding	.	CCDS33907.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCTGGGGC	NONE	.	.	.	.	.	ENSP00000336792	.	16/16	.	.	.	.	.	.	.	.	.	16/16	nonpreferredpair	ENST00000337774	Transcript	.	.	ENSG00000127241	6901	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MASP1_HUMAN	MASP1	HGNC	C9JLU5_HUMAN	.	UPI0000161FB8	SNV	MASP1,3_prime_UTR_variant,,ENST00000337774,;	2509	53	61	SUCCESS
ZNF589	51385	.	GRCh37	3	48310280	48310280	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1357241826	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	72	0	ENST00000354698.3:c.*4C>T			ENST00000354698	NM_016089.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43085.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGCCGAGGC	NONE	.	.	.	.	.	ENSP00000346729	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000354698	Transcript	.	.	ENSG00000164048	16747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN589_HUMAN	ZNF589	HGNC	Q59FS2_HUMAN	.	UPI0000190E9A	SNV	ZNF589,3_prime_UTR_variant,,ENST00000354698,;ZNF589,intron_variant,,ENST00000440261,;ZNF589,intron_variant,,ENST00000412564,;ZNF589,intron_variant,,ENST00000427617,;ZNF589,downstream_gene_variant,,ENST00000454212,;ZNF589,3_prime_UTR_variant,,ENST00000457782,;ZNF589,3_prime_UTR_variant,,ENST00000448461,;	1171	72	79	SUCCESS
CWC27	10283	.	GRCh37	5	64314355	64314355	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	4	11	0	ENST00000381070.3:c.*207A>T			ENST00000381070	NM_005869.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3982.2	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TTCCTAGCTGA	NONE	.	.	.	.	.	ENSP00000370460	.	14/14	.	.	.	.	.	.	.	.	.	14/14	nonpreferredpair	ENST00000381070	Transcript	.	.	ENSG00000153015	10664	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CWC27_HUMAN	CWC27	HGNC	.	.	UPI0000048ECC	SNV	CWC27,3_prime_UTR_variant,,ENST00000381070,;RP11-307L14.2,upstream_gene_variant,,ENST00000606057,;RP11-307L14.1,upstream_gene_variant,,ENST00000607786,;CWC27,non_coding_transcript_exon_variant,,ENST00000545000,;	1843	11	21	SUCCESS
KHDRBS2	202559	.	GRCh37	6	62390799	62390799	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	20	22	0	ENST00000281156.4:c.*69C>G			ENST00000281156	NM_152688.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4963.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTTGTTGCT	NONE	.	.	.	.	.	ENSP00000281156	.	9/9	.	.	.	.	.	.	.	.	.	9/9	nonpreferredpair	ENST00000281156	Transcript	.	.	ENSG00000112232	18114	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KHDR2_HUMAN	KHDRBS2	HGNC	.	.	UPI000004D256	SNV	KHDRBS2,3_prime_UTR_variant,,ENST00000281156,;RP1-240B8.3,non_coding_transcript_exon_variant,,ENST00000511849,;	1398	22	58	SUCCESS
FUT9	10690	.	GRCh37	6	96657166	96657166	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	46	78	0	ENST00000302103.5:c.*5055G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTGTGTAG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	6461	78	114	SUCCESS
ASZ1	136991	.	GRCh37	7	117003530	117003530	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-LG-A6GG-01	TCGA-LG-A6GG-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	14	0	ENST00000284629.2:c.*120del			ENST00000284629	NM_130768.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5772.1	.	INDELOCATOR|VARSCANI	.	TCAAAATTTTTC	NONE	.	.	.	.	.	ENSP00000284629	.	13/13	.	.	.	.	.	.	.	.	.	13/13	nonpreferredpair	ENST00000284629	Transcript	.	.	ENSG00000154438	1350	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ASZ1_HUMAN	ASZ1	HGNC	C9JP59_HUMAN,B7ZM20_HUMAN	.	UPI0000070EE2	deletion	ASZ1,3_prime_UTR_variant,,ENST00000284629,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;ASZ1,downstream_gene_variant,,ENST00000450714,;	1611	14	29	SUCCESS
PTGDR2	11251	.	GRCh37	11	60619960	60619960	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	rs529294569	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	30	9	28	0	ENST00000332539.4:c.*48del			ENST00000332539	NM_004778.2			0	.	G:0	.	G:0	.	-	.	protein_coding	YES	CCDS7994.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCGGCACCCTGG	NONE	by1000G	.	.	G:0	.	ENSP00000332812	G:0.001	2/2	.	.	.	.	.	.	.	.	rs529294569	2/2	PASS	ENST00000332539	Transcript	.	G:0.0002	ENSG00000183134	4502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	G:0	.	.	PD2R2_HUMAN	PTGDR2	HGNC	.	.	UPI00001B011A	deletion	PTGDR2,3_prime_UTR_variant,,ENST00000332539,;CCDC86,downstream_gene_variant,,ENST00000227520,;CCDC86,downstream_gene_variant,,ENST00000545580,;RP11-804A23.4,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;	1348	28	39	SUCCESS
ABHD13	84945	.	GRCh37	13	108882950	108882950	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	56	0	ENST00000375898.3:c.*370G>T			ENST00000375898	NM_032859.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTAAGTAAAT	NONE	.	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	1685	56	54	SUCCESS
C15orf62	643338	.	GRCh37	15	41063705	41063705	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	95	51	141	0	ENST00000344320.6:c.*484G>A			ENST00000344320	NM_001130448.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45229.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAGGCAGTC	NONE	.	.	.	.	.	ENSP00000341178	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344320	Transcript	.	.	ENSG00000188277	34489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CO062_HUMAN	C15orf62	HGNC	.	.	UPI00001FE27C	SNV	C15orf62,3_prime_UTR_variant,,ENST00000344320,;DNAJC17,intron_variant,,ENST00000220496,;GCHFR,downstream_gene_variant,,ENST00000260447,;GCHFR,downstream_gene_variant,,ENST00000559445,;GCHFR,downstream_gene_variant,,ENST00000558467,;GCHFR,downstream_gene_variant,,ENST00000559932,;GCHFR,downstream_gene_variant,,ENST00000558670,;DNAJC17,upstream_gene_variant,,ENST00000558727,;DNAJC17,intron_variant,,ENST00000561110,;DNAJC17,intron_variant,,ENST00000559238,;DNAJC17,downstream_gene_variant,,ENST00000560065,;DNAJC17,downstream_gene_variant,,ENST00000560645,;DNAJC17,downstream_gene_variant,,ENST00000560301,;DNAJC17,downstream_gene_variant,,ENST00000561018,;DNAJC17,downstream_gene_variant,,ENST00000559310,;DNAJC17,downstream_gene_variant,,ENST00000558769,;	1547	141	147	SUCCESS
PARP16	54956	.	GRCh37	15	65551517	65551517	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	21	0	ENST00000261888.6:c.*228T>G			ENST00000261888	NM_017851.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10204.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGGAAGGACT	NONE	.	.	.	.	.	ENSP00000261888	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000261888	Transcript	.	.	ENSG00000138617	26040	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAR16_HUMAN	PARP16	HGNC	.	.	UPI000035079D	SNV	PARP16,3_prime_UTR_variant,,ENST00000261888,;PARP16,3_prime_UTR_variant,,ENST00000444347,;PARP16,downstream_gene_variant,,ENST00000560149,;PARP16,intron_variant,,ENST00000559805,;	1646	21	17	SUCCESS
KCNJ16	3773	.	GRCh37	17	68129763	68129763	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	20	67	0	ENST00000283936.1:c.*278G>T			ENST00000283936	NM_018658.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11687.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTTGGAGGT	NONE	.	.	.	.	.	ENSP00000376438	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392670	Transcript	.	.	ENSG00000153822	6262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK16_HUMAN	KCNJ16	HGNC	K7ELL5_HUMAN,K7EKJ4_HUMAN	.	UPI000012D8B3	SNV	KCNJ16,3_prime_UTR_variant,,ENST00000283936,;KCNJ16,3_prime_UTR_variant,,ENST00000589377,;KCNJ16,3_prime_UTR_variant,,ENST00000392671,;KCNJ16,3_prime_UTR_variant,,ENST00000585558,;KCNJ16,3_prime_UTR_variant,,ENST00000392670,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000586462,;KCNJ16,downstream_gene_variant,,ENST00000591891,;KCNJ16,downstream_gene_variant,,ENST00000587892,;AC002539.1,upstream_gene_variant,,ENST00000435112,;	2028	67	93	SUCCESS
ZBTB18	10472	.	GRCh37	1	244218707	244218707	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1198191627	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	15	76	1	ENST00000358704.4:c.*35C>T			ENST00000358704	NM_205768.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1622.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	ATATACATATA	NONE	.	.	.	.	.	ENSP00000351539	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000358704	Transcript	.	.	ENSG00000179456	13030	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZBT18_HUMAN	ZBTB18	HGNC	.	.	UPI000034ECE2	SNV	ZBTB18,3_prime_UTR_variant,,ENST00000358704,;	1780	77	77	SUCCESS
MSANTD3	91283	.	GRCh37	9	103213356	103213356	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-LG-A9QC-01	TCGA-LG-A9QC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	26	0	ENST00000395067.2:c.*108A>T			ENST00000395067	NM_080655.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6749.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAGAGTGGT	NONE	.	.	.	.	.	ENSP00000378506	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000395067	Transcript	.	.	ENSG00000066697	23370	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MSD3_HUMAN	MSANTD3	HGNC	.	.	UPI000006CCC7	SNV	MSANTD3,3_prime_UTR_variant,,ENST00000395067,;TMEFF1,intron_variant,,ENST00000334943,;MSANTD3-TMEFF1,intron_variant,,ENST00000502978,;MSANTD3,downstream_gene_variant,,ENST00000374886,;MSANTD3,downstream_gene_variant,,ENST00000374885,;MSANTD3,non_coding_transcript_exon_variant,,ENST00000489377,;	1207	26	20	SUCCESS
DDI1	414301	.	GRCh37	11	103908795	103908795	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs551620291	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	88	43	125	0	ENST00000302259.3:c.*54A>G			ENST00000302259	NM_001001711.2			0	.	G:0.0008	.	G:0	.	G	.	protein_coding	YES	CCDS31660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATTATAAGT	NONE	byFrequency|by1000G	.	.	G:0	.	ENSP00000302805	G:0	1/1	.	.	.	.	.	.	.	.	rs551620291	1/1	PASS	ENST00000302259	Transcript	.	G:0.0004	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1488	125	132	SUCCESS
H2AFJ	0	.	GRCh37	12	14927949	14927949	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	95	0	ENST00000544848.1:c.*155G>T			ENST00000544848	NM_177925.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTGGTGAAA	NONE	.	.	.	.	.	ENSP00000438553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000544848	Transcript	.	.	ENSG00000246705	14456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	SNV	H2AFJ,3_prime_UTR_variant,,ENST00000544848,;HIST4H4,upstream_gene_variant,,ENST00000539745,;HIST4H4,upstream_gene_variant,,ENST00000537853,;HIST4H4,upstream_gene_variant,,ENST00000541592,;HIST4H4,upstream_gene_variant,,ENST00000540565,;H2AFJ,intron_variant,,ENST00000389078,;H2AFJ,intron_variant,,ENST00000501744,;HIST4H4,upstream_gene_variant,,ENST00000358064,;	680	95	84	SUCCESS
DPPA3	359787	.	GRCh37	12	7869825	7869825	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	78	0	ENST00000345088.2:c.*152A>G			ENST00000345088	NM_199286.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8582.1	.	MUTECT|MUSE|VARSCANS	.	ATACTAGTAAT	NONE	.	.	.	.	.	ENSP00000339250	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000345088	Transcript	.	.	ENSG00000187569	19199	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DPPA3_HUMAN	DPPA3	HGNC	.	.	UPI00001981F7	SNV	DPPA3,3_prime_UTR_variant,,ENST00000345088,;	749	78	64	SUCCESS
OIP5	11339	.	GRCh37	15	41625027	41625027	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	7	42	0				ENST00000220514	NM_007280.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45234.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGCGCGGCAT	NONE	.	42	.	.	.	ENSP00000453403	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000559596	Transcript	.	.	ENSG00000137804	18538	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUSAP_HUMAN	NUSAP1	HGNC	.	.	UPI0000072C6B	SNV	NUSAP1,5_prime_UTR_variant,,ENST00000260359,;NUSAP1,5_prime_UTR_variant,,ENST00000450318,;NUSAP1,upstream_gene_variant,,ENST00000560177,;NUSAP1,upstream_gene_variant,,ENST00000414849,;OIP5,upstream_gene_variant,,ENST00000220514,;OIP5,upstream_gene_variant,,ENST00000560640,;NUSAP1,upstream_gene_variant,,ENST00000559596,;NUSAP1,upstream_gene_variant,,ENST00000560747,;NUSAP1,upstream_gene_variant,,ENST00000450592,;NUSAP1,non_coding_transcript_exon_variant,,ENST00000558123,;NUSAP1,upstream_gene_variant,,ENST00000558582,;NUSAP1,upstream_gene_variant,,ENST00000559046,;NUSAP1,upstream_gene_variant,,ENST00000559659,;	.	42	30	SUCCESS
SPTBN5	51332	.	GRCh37	15	42140612	42140612	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	3	37	0	ENST00000320955.6:c.*202T>C			ENST00000320955	NM_016642.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS61599.1	.	MUTECT|MUSE	.	GGGGGAGGCCA	NONE	.	.	.	.	.	ENSP00000317790	.	68/68	.	.	.	.	.	.	.	.	.	68/68	PASS	ENST00000320955	Transcript	.	.	ENSG00000137877	15680	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPTN5_HUMAN	SPTBN5	HGNC	.	.	UPI0000E59BE4	SNV	SPTBN5,3_prime_UTR_variant,,ENST00000320955,;PLA2G4B,downstream_gene_variant,,ENST00000458483,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000342159,;PLA2G4B,downstream_gene_variant,,ENST00000542534,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000382448,;PLA2G4B,downstream_gene_variant,,ENST00000452633,;PLA2G4B,downstream_gene_variant,,ENST00000569354,;RNA5SP393,downstream_gene_variant,,ENST00000363423,;SPTBN5,non_coding_transcript_exon_variant,,ENST00000563899,;PLA2G4B,downstream_gene_variant,,ENST00000461382,;PLA2G4B,downstream_gene_variant,,ENST00000566076,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000490848,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000491746,;PLA2G4B,downstream_gene_variant,,ENST00000483748,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000487292,;	11455	37	21	SUCCESS
FAM227B	196951	.	GRCh37	15	49620725	49620725	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs763636823	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	23	87	0	ENST00000299338.6:c.*40C>A			ENST00000299338	NM_152647.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42034.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATTGTATGC	NONE	byFrequency	10	.	.	.	ENSP00000453129	.	.	.	.	.	.	.	.	.	.	rs763636823	.	PASS	ENST00000560031	Transcript	.	.	ENSG00000156958	4119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALK2_HUMAN	GALK2	HGNC	H0YNR7_HUMAN,H0YND3_HUMAN,B7ZAX5_HUMAN	.	UPI000012B06E	SNV	GALK2,3_prime_UTR_variant,,ENST00000543495,;FAM227B,3_prime_UTR_variant,,ENST00000559573,;GALK2,3_prime_UTR_variant,,ENST00000327171,;GALK2,3_prime_UTR_variant,,ENST00000544523,;FAM227B,3_prime_UTR_variant,,ENST00000299338,;GALK2,intron_variant,,ENST00000558399,;GALK2,intron_variant,,ENST00000560528,;GALK2,intron_variant,,ENST00000559580,;GALK2,downstream_gene_variant,,ENST00000559454,;GALK2,downstream_gene_variant,,ENST00000560031,;GALK2,downstream_gene_variant,,ENST00000396509,;FAM227B,non_coding_transcript_exon_variant,,ENST00000560557,;GALK2,3_prime_UTR_variant,,ENST00000560119,;	.	87	81	SUCCESS
CIB1	10519	.	GRCh37	15	90773562	90773562	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	3	99	0	ENST00000328649.6:c.*154T>C			ENST00000328649	NM_006384.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10360.1	.	MUTECT|MUSE	.	TGACAACGAGG	NONE	.	.	.	.	.	ENSP00000333873	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000328649	Transcript	.	.	ENSG00000185043	16920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CIB1_HUMAN	CIB1	HGNC	.	.	UPI00001506F1	SNV	CIB1,3_prime_UTR_variant,,ENST00000328649,;GDPGP1,upstream_gene_variant,,ENST00000558291,;SEMA4B,downstream_gene_variant,,ENST00000559247,;SEMA4B,downstream_gene_variant,,ENST00000332496,;GDPGP1,upstream_gene_variant,,ENST00000561433,;SEMA4B,downstream_gene_variant,,ENST00000559983,;SEMA4B,downstream_gene_variant,,ENST00000379122,;GDPGP1,upstream_gene_variant,,ENST00000559204,;SEMA4B,downstream_gene_variant,,ENST00000559074,;SEMA4B,downstream_gene_variant,,ENST00000411539,;GDPGP1,upstream_gene_variant,,ENST00000558017,;SEMA4B,downstream_gene_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000560089,;SEMA4B,downstream_gene_variant,,ENST00000560993,;SEMA4B,downstream_gene_variant,,ENST00000561252,;SEMA4B,downstream_gene_variant,,ENST00000561321,;	892	99	54	SUCCESS
HAUS1	115106	.	GRCh37	18	43708145	43708145	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs747825942	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	227	83	310	0	ENST00000282058.6:c.*54A>G			ENST00000282058	NM_138443.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11928.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTTTACAGAG	NONE	.	.	.	.	.	ENSP00000282058	.	9/9	.	.	.	.	.	.	.	.	rs747825942	9/9	PASS	ENST00000282058	Transcript	.	.	ENSG00000152240	25174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HAUS1_HUMAN	HAUS1	HGNC	.	.	UPI0000073700	SNV	HAUS1,3_prime_UTR_variant,,ENST00000585518,;HAUS1,3_prime_UTR_variant,,ENST00000282058,;HAUS1,non_coding_transcript_exon_variant,,ENST00000585425,;HAUS1,non_coding_transcript_exon_variant,,ENST00000588704,;HAUS1,3_prime_UTR_variant,,ENST00000591715,;HAUS1,3_prime_UTR_variant,,ENST00000593165,;HAUS1,downstream_gene_variant,,ENST00000592206,;HAUS1,downstream_gene_variant,,ENST00000595199,;HAUS1,downstream_gene_variant,,ENST00000589554,;HAUS1,downstream_gene_variant,,ENST00000586060,;	971	310	310	SUCCESS
CLEC4M	10332	.	GRCh37	19	7833877	7833877	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs989709004	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	79	0	ENST00000327325.5:c.*3G>A			ENST00000327325	NM_001144909.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12187.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGTTGTTTCC	NONE	.	.	.	.	.	ENSP00000316228	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000327325	Transcript	.	.	ENSG00000104938	13523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLC4M_HUMAN	CLEC4M	HGNC	.	.	UPI0000073C48	SNV	CLEC4M,3_prime_UTR_variant,,ENST00000334806,;CLEC4M,3_prime_UTR_variant,,ENST00000327325,;CLEC4M,3_prime_UTR_variant,,ENST00000394122,;CLEC4M,3_prime_UTR_variant,,ENST00000248228,;CLEC4M,3_prime_UTR_variant,,ENST00000359059,;CLEC4M,3_prime_UTR_variant,,ENST00000357361,;CLEC4M,3_prime_UTR_variant,,ENST00000596363,;CLEC4M,downstream_gene_variant,,ENST00000595751,;CLEC4M,downstream_gene_variant,,ENST00000595496,;CLEC4M,downstream_gene_variant,,ENST00000597522,;CLEC4M,downstream_gene_variant,,ENST00000596707,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000602143,;CLEC4M,downstream_gene_variant,,ENST00000601089,;CLEC4M,downstream_gene_variant,,ENST00000598879,;CLEC4M,downstream_gene_variant,,ENST00000599333,;	1321	79	70	SUCCESS
LRRC8C	84230	.	GRCh37	1	90180572	90180572	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs371842325	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	84	28	172	1	ENST00000370454.4:c.*31C>T			ENST00000370454	NM_032270.4			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS725.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAACACGCTTC	NONE	byCluster	.	.	.	T:0.0001	ENSP00000359483	.	3/3	.	.	.	.	.	.	.	.	rs371842325	3/3	PASS	ENST00000370454	Transcript	.	.	ENSG00000171488	25075	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC8C_HUMAN	LRRC8C	HGNC	.	.	UPI000013E814	SNV	LRRC8C,3_prime_UTR_variant,,ENST00000370454,;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;	2698	173	112	SUCCESS
SOX12	6666	.	GRCh37	20	308534	308534	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	20	105	1	ENST00000342665.2:c.*1018G>T			ENST00000342665	NM_006943.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12995.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCCGCAACC	NONE	.	.	.	.	.	ENSP00000347646	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342665	Transcript	.	.	ENSG00000177732	11198	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX12_HUMAN	SOX12	HGNC	.	.	UPI0000167B9D	SNV	SOX12,3_prime_UTR_variant,,ENST00000544632,;SOX12,3_prime_UTR_variant,,ENST00000342665,;RP5-1103G7.4,intron_variant,,ENST00000442637,;RP5-1103G7.4,upstream_gene_variant,,ENST00000414676,;	2296	106	56	SUCCESS
RANBP1	5902	.	GRCh37	22	20114588	20114589	+	3_prime_UTR_variant	3'UTR	DEL	TA	TA	-	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	TA	TA	.	.	.	.	.	.	.	.	.	.	.	.	.	192	44	271	0	ENST00000331821.3:c.*14_*15del			ENST00000331821				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13775.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTATTTTATTTTC	NONE	.	.	.	.	.	ENSP00000327583	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000331821	Transcript	.	.	ENSG00000099901	9847	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RANG_HUMAN	RANBP1	HGNC	D3DX26_HUMAN,C9JIC6_HUMAN	.	UPI00001132A0	deletion	RANBP1,3_prime_UTR_variant,,ENST00000448394,;RANBP1,3_prime_UTR_variant,,ENST00000331821,;RANBP1,3_prime_UTR_variant,,ENST00000402752,;RANBP1,3_prime_UTR_variant,,ENST00000430524,;ZDHHC8,upstream_gene_variant,,ENST00000405930,;RANBP1,downstream_gene_variant,,ENST00000432879,;RANBP1,downstream_gene_variant,,ENST00000411892,;ZDHHC8,upstream_gene_variant,,ENST00000436518,;ZDHHC8,upstream_gene_variant,,ENST00000334554,;ZDHHC8,upstream_gene_variant,,ENST00000320602,;RANBP1,downstream_gene_variant,,ENST00000423859,;RANBP1,downstream_gene_variant,,ENST00000421656,;RANBP1,downstream_gene_variant,,ENST00000418705,;RANBP1,downstream_gene_variant,,ENST00000416427,;SNORA77,downstream_gene_variant,,ENST00000578179,;ZDHHC8,upstream_gene_variant,,ENST00000468112,;RANBP1,3_prime_UTR_variant,,ENST00000435265,;RANBP1,non_coding_transcript_exon_variant,,ENST00000486575,;RANBP1,downstream_gene_variant,,ENST00000488484,;	721-722	271	236	SUCCESS
NIFK	84365	.	GRCh37	2	122485067	122485067	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	143	45	239	0	ENST00000285814.4:c.*233C>G			ENST00000285814	NM_032390.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2135.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGGCCAGG	NONE	.	.	.	.	.	ENSP00000285814	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000285814	Transcript	.	.	ENSG00000155438	17838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MK67I_HUMAN	NIFK	HGNC	C9J808_HUMAN	.	UPI00000738EB	SNV	NIFK,3_prime_UTR_variant,,ENST00000285814,;NIFK,3_prime_UTR_variant,,ENST00000423105,;NIFK,downstream_gene_variant,,ENST00000451734,;NIFK,downstream_gene_variant,,ENST00000447132,;NIFK-AS1,intron_variant,,ENST00000419902,;NIFK,downstream_gene_variant,,ENST00000498570,;NIFK,downstream_gene_variant,,ENST00000481978,;NIFK,downstream_gene_variant,,ENST00000477693,;	1188	239	188	SUCCESS
NFU1	27247	.	GRCh37	2	69623283	69623319	+	3_prime_UTR_variant	3'UTR	DEL	ATTAATCTTCAAGTTCCTCAGCATATTAATAATAAAA	ATTAATCTTCAAGTTCCTCAGCATATTAATAATAAAA	TTTAAT	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	ATTAATCTTCAAGTTCCTCAGCATATTAATAATAAAA	ATTAATCTTCAAGTTCCTCAGCATATTAATAATAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	44	8	52	0	ENST00000410022.2:c.*59_*95delinsATTAAA			ENST00000410022	NM_001002755.2			0	.	.	.	.	.	TTTAAT	.	protein_coding	YES	CCDS33217.1	.	INDELOCATOR*|MUSE*|MUTECT*|VARSCANI*|PINDEL	.	TATTTTATTAATCTTCAAGTTCCTCAGCATATTAATAATAAAAACTTG	NONE	.	.	.	.	.	ENSP00000387219	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000410022	Transcript	.	.	ENSG00000169599	16287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFU1_HUMAN	NFU1	HGNC	F8W9P7_HUMAN,C9J8Q1_HUMAN	.	UPI00001B3DAF	substitution	NFU1,3_prime_UTR_variant,,ENST00000410022,;NFU1,3_prime_UTR_variant,,ENST00000394305,;NFU1,3_prime_UTR_variant,,ENST00000303698,;NFU1,3_prime_UTR_variant,,ENST00000462320,;NFU1,downstream_gene_variant,,ENST00000484177,;NFU1,downstream_gene_variant,,ENST00000450796,;NFU1,non_coding_transcript_exon_variant,,ENST00000471185,;NFU1,3_prime_UTR_variant,,ENST00000474230,;	1030-1066	52	52	SUCCESS
ANKRD23	200539	.	GRCh37	2	97505268	97505268	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1481709180	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	15	55	0	ENST00000318357.4:c.*18G>A			ENST00000318357	NM_144994.7			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2027.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCGGCGGGGG	NONE	.	.	.	.	.	ENSP00000321679	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000318357	Transcript	.	.	ENSG00000163126	24470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR23_HUMAN	ANKRD23	HGNC	.	.	UPI000000D7C6	SNV	ANKRD23,3_prime_UTR_variant,,ENST00000331001,;ANKRD23,3_prime_UTR_variant,,ENST00000318357,;ANKRD23,3_prime_UTR_variant,,ENST00000418232,;ANKRD23,intron_variant,,ENST00000476975,;ANKRD23,downstream_gene_variant,,ENST00000462692,;ANKRD39,3_prime_UTR_variant,,ENST00000443120,;ANKRD23,non_coding_transcript_exon_variant,,ENST00000482175,;	978	55	37	SUCCESS
ANKUB1	389161	.	GRCh37	3	149479222	149479222	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	20	62	1	ENST00000446160.1:c.*49T>G			ENST00000446160	NM_001144960.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGGACATTC	NONE	.	.	.	.	.	ENSP00000387907	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000446160	Transcript	.	.	ENSG00000206199	29642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ANKUB1	HGNC	E9PHT4_HUMAN	.	UPI0000DD7B6F	SNV	ANKUB1,3_prime_UTR_variant,,ENST00000446160,;ANKUB1,downstream_gene_variant,,ENST00000383050,;ANKUB1,downstream_gene_variant,,ENST00000484019,;	2141	63	84	SUCCESS
FUT9	10690	.	GRCh37	6	96662880	96662880	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	94	4	93	0	ENST00000302103.5:c.*10769T>C			ENST00000302103	NM_006581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5033.1	.	MUTECT|MUSE	.	AGTCCTAGCAC	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	12175	93	98	SUCCESS
KIAA1324L	0	.	GRCh37	7	86509672	86509672	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	8	23	0	ENST00000450689.2:c.*115G>A			ENST00000450689	NM_001142749.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47632.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGCCCTCCT	NONE	.	.	.	.	.	ENSP00000413445	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000450689	Transcript	.	.	ENSG00000164659	21945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K132L_HUMAN	KIAA1324L	HGNC	F1LLU5_HUMAN,C9JFK7_HUMAN	.	UPI000173AA00	SNV	KIAA1324L,3_prime_UTR_variant,,ENST00000416314,;KIAA1324L,3_prime_UTR_variant,,ENST00000297222,;KIAA1324L,3_prime_UTR_variant,,ENST00000444627,;KIAA1324L,3_prime_UTR_variant,,ENST00000450689,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;	3391	23	34	SUCCESS
RAB11FIP1	80223	.	GRCh37	8	37756978	37756978	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs758672510	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	58	30	127	0				ENST00000330843	NM_001002814.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34882.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCCAGAAGCG	NONE	byFrequency	6	.	.	.	ENSP00000331342	.	.	.	.	.	.	.	.	.	.	rs758672510	.	PASS	ENST00000330843	Transcript	.	.	ENSG00000156675	30265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RFIP1_HUMAN	RAB11FIP1	HGNC	.	.	UPI0000D624B1	SNV	RAB11FIP1,5_prime_UTR_variant,,ENST00000287263,;RAB11FIP1,upstream_gene_variant,,ENST00000522727,;RAB11FIP1,upstream_gene_variant,,ENST00000330843,;	.	127	89	SUCCESS
C8orf22	0	.	GRCh37	8	49987869	49987869	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs948257265	.	TCGA-LG-A9QD-01	TCGA-LG-A9QD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	41	45	0	ENST00000303202.8:c.*779G>A			ENST00000303202	NM_001256598.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59101.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCGCCCCA	NONE	.	.	.	.	.	ENSP00000304926	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000303202	Transcript	.	.	ENSG00000168333	31745	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDPFL_HUMAN	C8orf22	HGNC	.	.	UPI0000070316	SNV	C8orf22,3_prime_UTR_variant,,ENST00000303202,;C8orf22,3_prime_UTR_variant,,ENST00000399653,;C8orf22,3_prime_UTR_variant,,ENST00000517663,;C8orf22,3_prime_UTR_variant,,ENST00000522267,;	1207	45	70	SUCCESS
CD151	977	.	GRCh37	11	838245	838245	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	40	0	ENST00000322008.4:c.*53G>A			ENST00000322008	NM_004357.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7719.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACTGAGTAC	NONE	.	.	.	.	.	ENSP00000380565	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000397420	Transcript	.	.	ENSG00000177697	1630	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD151_HUMAN	CD151	HGNC	K4DIB7_HUMAN,E9PSA1_HUMAN,E9PP93_HUMAN,E9PLZ6_HUMAN,E9PK37_HUMAN,E9PJE8_HUMAN,E9PJC8_HUMAN	.	UPI00001507D8	SNV	CD151,3_prime_UTR_variant,,ENST00000528011,;CD151,3_prime_UTR_variant,,ENST00000397420,;CD151,3_prime_UTR_variant,,ENST00000322008,;CD151,3_prime_UTR_variant,,ENST00000397421,;CD151,downstream_gene_variant,,ENST00000528867,;TSPAN4,upstream_gene_variant,,ENST00000397396,;TSPAN4,upstream_gene_variant,,ENST00000397411,;CD151,downstream_gene_variant,,ENST00000525718,;CD151,downstream_gene_variant,,ENST00000526439,;CD151,downstream_gene_variant,,ENST00000525333,;TSPAN4,upstream_gene_variant,,ENST00000397397,;CD151,downstream_gene_variant,,ENST00000529810,;CD151,downstream_gene_variant,,ENST00000527341,;TSPAN4,upstream_gene_variant,,ENST00000397408,;CD151,downstream_gene_variant,,ENST00000524748,;CD151,downstream_gene_variant,,ENST00000530320,;CD151,downstream_gene_variant,,ENST00000526693,;POLR2L,downstream_gene_variant,,ENST00000322028,;CD151,non_coding_transcript_exon_variant,,ENST00000525181,;CD151,3_prime_UTR_variant,,ENST00000530726,;CD151,non_coding_transcript_exon_variant,,ENST00000532045,;POLR2L,intron_variant,,ENST00000534030,;CD151,downstream_gene_variant,,ENST00000531999,;CD151,downstream_gene_variant,,ENST00000530155,;CD151,downstream_gene_variant,,ENST00000526661,;CD151,downstream_gene_variant,,ENST00000532075,;CD151,downstream_gene_variant,,ENST00000525868,;	1064	40	35	SUCCESS
MAML2	84441	.	GRCh37	11	95712030	95712030	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	20	0	ENST00000524717.1:c.*82A>T			ENST00000524717	NM_032427.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44714.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAACATCAACA	NONE	.	.	.	.	.	ENSP00000434552	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524717	Transcript	.	.	ENSG00000184384	16259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAML2_HUMAN	MAML2	HGNC	.	.	UPI00001B4EFC	SNV	MAML2,3_prime_UTR_variant,,ENST00000524717,;	4838	20	16	SUCCESS
RP13-977J11.5	0	.	GRCh37	12	132610931	132610931	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	28	54	0				ENST00000540993				0	.	.	.	.	.	C	.	processed_pseudogene	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGATGGTGA	NONE	.	75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000540993	Transcript	.	.	ENSG00000256804	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RP13-977J11.5	Clone_based_vega_gene	.	.	.	SNV	EP400NL,downstream_gene_variant,,ENST00000376625,;EP400NL,downstream_gene_variant,,ENST00000361109,;EP400NL,non_coding_transcript_exon_variant,,ENST00000475841,;EP400NL,downstream_gene_variant,,ENST00000488030,;EP400NL,downstream_gene_variant,,ENST00000332441,;EP400NL,downstream_gene_variant,,ENST00000446190,;RP13-977J11.5,downstream_gene_variant,,ENST00000540993,;	.	54	55	SUCCESS
NDRG4	65009	.	GRCh37	16	58545547	58545547	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs757351623	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	19	58	0	ENST00000570248.1:c.*67C>T			ENST00000570248	NM_001242835.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45500.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTCCCTTT	NONE	.	.	.	.	.	ENSP00000377823	.	16/16	.	.	.	.	.	.	.	.	rs757351623	16/16	PASS	ENST00000394282	Transcript	.	.	ENSG00000103034	14466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDRG4_HUMAN	NDRG4	HGNC	H3BUK1_HUMAN,H3BU25_HUMAN,H3BST8_HUMAN,H3BSC3_HUMAN,H3BRT9_HUMAN,H3BR92_HUMAN,H3BPH8_HUMAN,H3BNQ1_HUMAN,H3BNB4_HUMAN,H3BN97_HUMAN,H3BMR6_HUMAN,H3BM83_HUMAN,B7Z9X4_HUMAN	.	UPI00001C0CB5	SNV	NDRG4,synonymous_variant,p.%3D,ENST00000569408,;NDRG4,3_prime_UTR_variant,,ENST00000563799,;NDRG4,3_prime_UTR_variant,,ENST00000566192,;NDRG4,3_prime_UTR_variant,,ENST00000569923,;NDRG4,3_prime_UTR_variant,,ENST00000394282,;NDRG4,3_prime_UTR_variant,,ENST00000570248,;NDRG4,3_prime_UTR_variant,,ENST00000394279,;NDRG4,3_prime_UTR_variant,,ENST00000258187,;NDRG4,3_prime_UTR_variant,,ENST00000356752,;NDRG4,3_prime_UTR_variant,,ENST00000562999,;NDRG4,downstream_gene_variant,,ENST00000561738,;SETD6,upstream_gene_variant,,ENST00000394266,;NDRG4,downstream_gene_variant,,ENST00000569026,;SETD6,upstream_gene_variant,,ENST00000310682,;SETD6,upstream_gene_variant,,ENST00000447443,;SETD6,upstream_gene_variant,,ENST00000219315,;NDRG4,downstream_gene_variant,,ENST00000568640,;NDRG4,downstream_gene_variant,,ENST00000569539,;NDRG4,downstream_gene_variant,,ENST00000562725,;SETD6,upstream_gene_variant,,ENST00000418480,;NDRG4,non_coding_transcript_exon_variant,,ENST00000563209,;NDRG4,non_coding_transcript_exon_variant,,ENST00000566265,;NDRG4,non_coding_transcript_exon_variant,,ENST00000421602,;NDRG4,intron_variant,,ENST00000565981,;SETD6,upstream_gene_variant,,ENST00000422445,;NDRG4,downstream_gene_variant,,ENST00000568005,;SETD6,upstream_gene_variant,,ENST00000467320,;SETD6,upstream_gene_variant,,ENST00000492050,;NDRG4,downstream_gene_variant,,ENST00000561730,;NDRG4,downstream_gene_variant,,ENST00000566061,;NDRG4,downstream_gene_variant,,ENST00000561681,;SETD6,upstream_gene_variant,,ENST00000427443,;NDRG4,downstream_gene_variant,,ENST00000561720,;SETD6,upstream_gene_variant,,ENST00000470003,;SETD6,upstream_gene_variant,,ENST00000468223,;NDRG4,downstream_gene_variant,,ENST00000562350,;	1650	58	36	SUCCESS
CDK5R1	8851	.	GRCh37	17	30816801	30816801	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	33	120	0	ENST00000313401.3:c.*1239A>G			ENST00000313401	NM_003885.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11273.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGCATTGGT	NONE	.	.	.	.	.	ENSP00000318486	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000313401	Transcript	.	.	ENSG00000176749	1775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD5R1_HUMAN	CDK5R1	HGNC	.	.	UPI000012738E	SNV	CDK5R1,3_prime_UTR_variant,,ENST00000313401,;MYO1D,downstream_gene_variant,,ENST00000394649,;MYO1D,downstream_gene_variant,,ENST00000318217,;CDK5R1,downstream_gene_variant,,ENST00000584792,;MYO1D,downstream_gene_variant,,ENST00000577576,;CDK5R1,downstream_gene_variant,,ENST00000584716,;MYO1D,downstream_gene_variant,,ENST00000577352,;	2852	120	66	SUCCESS
KCNJ16	3773	.	GRCh37	17	68129654	68129654	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	34	130	0	ENST00000283936.1:c.*169T>C			ENST00000283936	NM_018658.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11687.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCTCAGTT	NONE	.	.	.	.	.	ENSP00000376438	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392670	Transcript	.	.	ENSG00000153822	6262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK16_HUMAN	KCNJ16	HGNC	K7ELL5_HUMAN,K7EKJ4_HUMAN	.	UPI000012D8B3	SNV	KCNJ16,3_prime_UTR_variant,,ENST00000283936,;KCNJ16,3_prime_UTR_variant,,ENST00000589377,;KCNJ16,3_prime_UTR_variant,,ENST00000392671,;KCNJ16,3_prime_UTR_variant,,ENST00000586462,;KCNJ16,3_prime_UTR_variant,,ENST00000585558,;KCNJ16,3_prime_UTR_variant,,ENST00000392670,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000591891,;KCNJ16,downstream_gene_variant,,ENST00000587892,;AC002539.1,upstream_gene_variant,,ENST00000435112,;	1919	130	106	SUCCESS
KIR3DL2	3812	.	GRCh37	19	55378328	55378328	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	31	0	ENST00000326321.3:c.*142G>A			ENST00000326321	NM_006737.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12906.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATGCCTAA	NONE	.	.	.	.	.	ENSP00000325525	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000326321	Transcript	.	.	ENSG00000240403	6339	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI3L2_HUMAN	KIR3DL2	HGNC	O78200_HUMAN,E4W3V6_HUMAN,A7YL13_HUMAN	.	UPI000012DB25	SNV	KIR3DL2,3_prime_UTR_variant,,ENST00000270442,;KIR3DL2,3_prime_UTR_variant,,ENST00000326321,;KIR3DL1,3_prime_UTR_variant,,ENST00000402254,;RNU6-222P,downstream_gene_variant,,ENST00000362438,;	1543	31	24	SUCCESS
SLC5A3	6526	.	GRCh37	21	35477277	35477277	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	33	93	0	ENST00000381151.3:c.*7623A>G			ENST00000381151				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTATAATT	NONE	.	.	.	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,3_prime_UTR_variant,,ENST00000608209,;SLC5A3,3_prime_UTR_variant,,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	10292	93	84	SUCCESS
FNDC4	64838	.	GRCh37	2	27715171	27715171	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	40	0	ENST00000264703.3:c.*139T>A			ENST00000264703	NM_022823.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1756.1	.	RADIA|MUTECT|MUSE	.	GAAAGAGGATG	NONE	.	.	.	.	.	ENSP00000264703	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264703	Transcript	.	.	ENSG00000115226	20239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FNDC4_HUMAN	FNDC4	HGNC	.	.	UPI000006F5E7	SNV	FNDC4,3_prime_UTR_variant,,ENST00000264703,;GCKR,upstream_gene_variant,,ENST00000453813,;GCKR,upstream_gene_variant,,ENST00000424318,;IFT172,upstream_gene_variant,,ENST00000260570,;GCKR,upstream_gene_variant,,ENST00000264717,;IFT172,upstream_gene_variant,,ENST00000416524,;IFT172,upstream_gene_variant,,ENST00000359466,;FNDC4,non_coding_transcript_exon_variant,,ENST00000491414,;FNDC4,downstream_gene_variant,,ENST00000476197,;IFT172,upstream_gene_variant,,ENST00000475476,;GCKR,upstream_gene_variant,,ENST00000472290,;IFT172,upstream_gene_variant,,ENST00000476264,;GCKR,upstream_gene_variant,,ENST00000417872,;IFT172,upstream_gene_variant,,ENST00000511842,;IFT172,upstream_gene_variant,,ENST00000507184,;	1236	40	39	SUCCESS
FNDC4	64838	.	GRCh37	2	27715183	27715183	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	18	41	0	ENST00000264703.3:c.*127T>C			ENST00000264703	NM_022823.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1756.1	.	RADIA|MUTECT|MUSE	.	GTACCAGGCCT	NONE	.	.	.	.	.	ENSP00000264703	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264703	Transcript	.	.	ENSG00000115226	20239	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FNDC4_HUMAN	FNDC4	HGNC	.	.	UPI000006F5E7	SNV	FNDC4,3_prime_UTR_variant,,ENST00000264703,;GCKR,upstream_gene_variant,,ENST00000453813,;GCKR,upstream_gene_variant,,ENST00000424318,;IFT172,upstream_gene_variant,,ENST00000260570,;GCKR,upstream_gene_variant,,ENST00000264717,;IFT172,upstream_gene_variant,,ENST00000416524,;IFT172,upstream_gene_variant,,ENST00000359466,;FNDC4,non_coding_transcript_exon_variant,,ENST00000491414,;FNDC4,downstream_gene_variant,,ENST00000476197,;IFT172,upstream_gene_variant,,ENST00000475476,;GCKR,upstream_gene_variant,,ENST00000472290,;IFT172,upstream_gene_variant,,ENST00000476264,;GCKR,upstream_gene_variant,,ENST00000417872,;IFT172,upstream_gene_variant,,ENST00000511842,;IFT172,upstream_gene_variant,,ENST00000507184,;	1224	41	42	SUCCESS
RP11-554J4.1	0	.	GRCh37	2	55844336	55844336	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs200421664	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	22	96	0				ENST00000608113		29		0	A:0	.	.	.	.	A	S/F	protein_coding	YES	CCDS46289.1	86	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTGGAGGAG	NONE	byFrequency|byCluster	.	hmmpanther:PTHR23318:SF2,hmmpanther:PTHR23318,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	.	A:0.0005	ENSP00000339769	.	1/17	.	.	.	.	.	.	.	.	rs200421664	1/17	PASS	ENST00000345102	Transcript	.	.	ENSG00000138041	29267	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.08)	.	deleterious(0.02)	.	P4R3B_HUMAN	SMEK2	HGNC	.	.	UPI00001C1DBA	SNV	SMEK2,missense_variant,p.Ser29Phe,ENST00000345102,;SMEK2,missense_variant,p.Ser29Phe,ENST00000272313,;SMEK2,missense_variant,p.Ser29Phe,ENST00000407823,;RP11-554J4.1,upstream_gene_variant,,ENST00000608113,;SMEK2,non_coding_transcript_exon_variant,,ENST00000477749,;SMEK2,upstream_gene_variant,,ENST00000470801,;	388	96	65	SUCCESS
FGF12	2257	.	GRCh37	3	191861739	191861739	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	16	61	0	ENST00000454309.2:c.*59A>T			ENST00000454309	NM_021032.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGGGTAAATG	NONE	.	.	.	.	.	ENSP00000413496	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000454309	Transcript	.	.	ENSG00000114279	3668	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FGF12_HUMAN	FGF12	HGNC	C9JUK8_HUMAN	.	UPI0000003FDD	SNV	FGF12,3_prime_UTR_variant,,ENST00000440901,;FGF12,3_prime_UTR_variant,,ENST00000445105,;FGF12,3_prime_UTR_variant,,ENST00000264730,;FGF12,3_prime_UTR_variant,,ENST00000454309,;FGF12,downstream_gene_variant,,ENST00000450716,;FGF12,downstream_gene_variant,,ENST00000430714,;FGF12,downstream_gene_variant,,ENST00000448795,;	1617	61	46	SUCCESS
SOX4	6659	.	GRCh37	6	21598625	21598625	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	53	161	0	ENST00000244745.1:c.*2435G>T			ENST00000244745	NM_003107.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4547.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAAGGGTTTT	NONE	.	.	.	.	.	ENSP00000244745	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000244745	Transcript	.	.	ENSG00000124766	11200	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX4_HUMAN	SOX4	HGNC	.	.	UPI0000047FA0	SNV	SOX4,3_prime_UTR_variant,,ENST00000244745,;SOX4,downstream_gene_variant,,ENST00000543472,;RP3-322L4.2,upstream_gene_variant,,ENST00000404566,;	4654	161	125	SUCCESS
HIST1H4K	0	.	GRCh37	6	27799306	27799306	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs373173429	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	44	179	0				ENST00000357549	NM_003541.2			0	A:0.0002	A:0.0008	.	A:0	.	A	.	protein_coding	YES	CCDS4631.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACATGACGAG	NONE	byCluster|by1000G	1	.	A:0	A:0	ENSP00000350159	A:0	.	.	.	.	.	.	.	.	.	rs373173429	.	PASS	ENST00000357549	Transcript	.	A:0.0002	ENSG00000197914	4784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	H4_HUMAN	HIST1H4K	HGNC	Q6B823_HUMAN,B2R4R0_HUMAN	.	UPI000000003C	SNV	HIST1H4K,upstream_gene_variant,,ENST00000357549,;	.	179	118	SUCCESS
MUT	0	.	GRCh37	6	49399324	49399324	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	4	84	0	ENST00000274813.3:c.*117C>A			ENST00000274813	NM_000255.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4924.1	.	MUTECT|MUSE	.	GTAAAGCTTTC	NONE	.	.	.	.	.	ENSP00000274813	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000274813	Transcript	.	.	ENSG00000146085	7526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MUTA_HUMAN	MUT	HGNC	S4UML7_HUMAN,T1WHH0_HUMAN	.	UPI000013DA28	SNV	MUT,3_prime_UTR_variant,,ENST00000274813,;	2498	84	65	SUCCESS
DEC1	0	.	GRCh37	9	118164433	118164433	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1466259528	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	57	36	126	0	ENST00000374016.1:c.*29G>A			ENST00000374016	NM_017418.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6812.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGTTGCC	NONE	.	.	.	.	.	ENSP00000363128	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000374016	Transcript	.	.	ENSG00000173077	23658	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DEC1_HUMAN	DEC1	HGNC	.	.	UPI0000071741	SNV	DEC1,3_prime_UTR_variant,,ENST00000374016,;	761	126	94	SUCCESS
FAM122A	0	.	GRCh37	9	71396648	71396648	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75C-01	TCGA-MI-A75C-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	21	63	0	ENST00000394264.3:c.*704A>G			ENST00000394264	NM_138333.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6623.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAAAATAAA	NONE	.	.	.	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,3_prime_UTR_variant,,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	1685	63	53	SUCCESS
VDR	7421	.	GRCh37	12	48238472	48238472	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	21	0	ENST00000229022.3:c.*57G>A			ENST00000229022	NM_001017535.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55820.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CGGGCCTGGCA	NONE	.	.	.	.	.	ENSP00000447173	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000550325	Transcript	.	.	ENSG00000111424	12679	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	VDR_HUMAN	VDR	HGNC	T1WSQ6_HUMAN,Q6T928_HUMAN,F8VXQ9_HUMAN,F8VVY8_HUMAN,F8VRJ4_HUMAN,F8VPF8_HUMAN,F1D8P8_HUMAN	.	UPI000015B2DC	SNV	VDR,3_prime_UTR_variant,,ENST00000229022,;VDR,3_prime_UTR_variant,,ENST00000535672,;VDR,3_prime_UTR_variant,,ENST00000549336,;VDR,3_prime_UTR_variant,,ENST00000550325,;VDR,3_prime_UTR_variant,,ENST00000395324,;VDR,3_prime_UTR_variant,,ENST00000547065,;	1864	21	23	SUCCESS
C12orf68	0	.	GRCh37	12	48578689	48578689	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	14	45	0	ENST00000316554.3:c.*199A>T			ENST00000316554	NM_001013635.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31785.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACTAAGCGAA	NONE	.	.	.	.	.	ENSP00000320849	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000316554	Transcript	.	.	ENSG00000177875	33749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL068_HUMAN	C12orf68	HGNC	.	.	UPI000006F320	SNV	C12orf68,3_prime_UTR_variant,,ENST00000316554,;ASB8,upstream_gene_variant,,ENST00000539503,;	1324	45	47	SUCCESS
GRTP1	79774	.	GRCh37	13	113978654	113978654	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	24	0	ENST00000375431.4:c.*149T>G			ENST00000375431	NM_024719.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9534.2	.	MUTECT|MUSE	.	TTTTAAACTGC	NONE	.	.	.	.	.	ENSP00000364580	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000375431	Transcript	.	.	ENSG00000139835	20310	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRTP1_HUMAN	GRTP1	HGNC	.	.	UPI00003E2A97	SNV	GRTP1,3_prime_UTR_variant,,ENST00000375431,;LAMP1,downstream_gene_variant,,ENST00000332556,;GRTP1,downstream_gene_variant,,ENST00000375430,;LAMP1,downstream_gene_variant,,ENST00000397181,;GRTP1,downstream_gene_variant,,ENST00000326039,;LAMP1,downstream_gene_variant,,ENST00000471046,;LAMP1,downstream_gene_variant,,ENST00000472564,;	1235	24	15	SUCCESS
EDNRB	1910	.	GRCh37	13	78470552	78470552	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	7	74	0	ENST00000334286.5:c.*1783T>C			ENST00000334286	NM_001122659.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55902.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTTATAAATAG	NONE	.	.	.	.	.	ENSP00000366416	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000377211	Transcript	.	.	ENSG00000136160	3180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EDNRB_HUMAN	EDNRB	HGNC	.	.	UPI0000046D5C	SNV	EDNRB,3_prime_UTR_variant,,ENST00000446573,;EDNRB,3_prime_UTR_variant,,ENST00000377211,;EDNRB,3_prime_UTR_variant,,ENST00000334286,;	3535	74	62	SUCCESS
ZC3H14	79882	.	GRCh37	14	89078231	89078231	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	51	6	47	0	ENST00000251038.5:c.*136T>A			ENST00000251038	NM_024824.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32133.1	.	MUTECT|MUSE	.	CTATCTATCTG	NONE	.	.	.	.	.	ENSP00000251038	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000251038	Transcript	1	.	ENSG00000100722	20509	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZC3HE_HUMAN	ZC3H14	HGNC	G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN	.	UPI00001BDB9B	SNV	ZC3H14,3_prime_UTR_variant,,ENST00000555755,;ZC3H14,3_prime_UTR_variant,,ENST00000302216,;ZC3H14,3_prime_UTR_variant,,ENST00000251038,;ZC3H14,3_prime_UTR_variant,,ENST00000359301,;ZC3H14,3_prime_UTR_variant,,ENST00000557607,;ZC3H14,3_prime_UTR_variant,,ENST00000556000,;ZC3H14,3_prime_UTR_variant,,ENST00000406216,;ZC3H14,downstream_gene_variant,,ENST00000336693,;EML5,downstream_gene_variant,,ENST00000352093,;ZC3H14,downstream_gene_variant,,ENST00000318308,;ZC3H14,downstream_gene_variant,,ENST00000555792,;ZC3H14,downstream_gene_variant,,ENST00000393514,;EML5,downstream_gene_variant,,ENST00000380664,;ZC3H14,downstream_gene_variant,,ENST00000555900,;EML5,downstream_gene_variant,,ENST00000554922,;ZC3H14,downstream_gene_variant,,ENST00000556945,;ZC3H14,downstream_gene_variant,,ENST00000555851,;ZC3H14,non_coding_transcript_exon_variant,,ENST00000557491,;ZC3H14,non_coding_transcript_exon_variant,,ENST00000554020,;EML5,downstream_gene_variant,,ENST00000553973,;EML5,downstream_gene_variant,,ENST00000553526,;	2572	47	57	SUCCESS
DKFZP761J1410	0	.	GRCh37	19	11475082	11475082	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	28	0	ENST00000251473.5:c.*27C>G			ENST00000251473	NM_022737.2	334		0	.	.	.	.	.	G	P/A	protein_coding	YES	CCDS59352.1	1000	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCCCAGCC	NONE	.	.	hmmpanther:PTHR10165:SF15,hmmpanther:PTHR10165	.	.	ENSP00000466898	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000591608	Transcript	.	.	ENSG00000105520	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.348)	.	tolerated_low_confidence(0.08)	.	.	DKFZP761J1410	Uniprot_gn	Q69YU8_HUMAN,K7EMX8_HUMAN	.	UPI00001AE726	SNV	DKFZP761J1410,missense_variant,p.Pro334Ala,ENST00000591608,;DKFZP761J1410,3_prime_UTR_variant,,ENST00000251473,;DKFZP761J1410,downstream_gene_variant,,ENST00000591329,;DKFZP761J1410,downstream_gene_variant,,ENST00000586380,;CTD-2342J14.6,downstream_gene_variant,,ENST00000590399,;DKFZP761J1410,downstream_gene_variant,,ENST00000586431,;DKFZP761J1410,downstream_gene_variant,,ENST00000588196,;DKFZP761J1410,downstream_gene_variant,,ENST00000588360,;DKFZP761J1410,downstream_gene_variant,,ENST00000587801,;	1264	28	24	SUCCESS
TPM4	7171	.	GRCh37	19	16212228	16212228	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	155	35	167	0	ENST00000300933.4:c.*72T>G			ENST00000300933	NM_003290.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46007.1	.	MUTECT|MUSE	.	AGAAGTTCCTT	NONE	.	.	.	.	.	ENSP00000439135	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,3_prime_UTR_variant,,ENST00000538887,;TPM4,3_prime_UTR_variant,,ENST00000344824,;TPM4,3_prime_UTR_variant,,ENST00000300933,;CTD-2231E14.5,downstream_gene_variant,,ENST00000587693,;TPM4,non_coding_transcript_exon_variant,,ENST00000591645,;TPM4,non_coding_transcript_exon_variant,,ENST00000591226,;TPM4,intron_variant,,ENST00000588032,;	1014	167	190	SUCCESS
TPM4	7171	.	GRCh37	19	16212236	16212236	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	146	34	153	0	ENST00000300933.4:c.*80G>T			ENST00000300933	NM_003290.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46007.1	.	MUTECT|MUSE	.	CTTTTGTTATT	NONE	.	.	.	.	.	ENSP00000439135	.	9/10	.	.	.	.	.	.	.	.	.	9/10	PASS	ENST00000538887	Transcript	1	.	ENSG00000167460	12013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TPM4_HUMAN	TPM4	HGNC	K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN	.	UPI000002B5B9	SNV	TPM4,3_prime_UTR_variant,,ENST00000538887,;TPM4,3_prime_UTR_variant,,ENST00000344824,;TPM4,3_prime_UTR_variant,,ENST00000300933,;CTD-2231E14.5,downstream_gene_variant,,ENST00000587693,;TPM4,non_coding_transcript_exon_variant,,ENST00000591645,;TPM4,non_coding_transcript_exon_variant,,ENST00000591226,;TPM4,intron_variant,,ENST00000588032,;	1022	153	181	SUCCESS
HSH2D	84941	.	GRCh37	19	16265269	16265269	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	9	32	0	ENST00000535834.1:c.*257G>C			ENST00000535834				0	.	.	.	.	.	C	.	nonsense_mediated_decay	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGAGGAAGCT	NONE	.	.	.	.	.	ENSP00000442140	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000535834	Transcript	.	.	ENSG00000196684	24920	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	HSH2D	HGNC	B4DT26_HUMAN	.	UPI00017A7AD4	SNV	HSH2D,missense_variant,p.Glu148Gln,ENST00000593154,;HSH2D,missense_variant,p.Glu148Gln,ENST00000588246,;HSH2D,missense_variant,p.Glu123Gln,ENST00000593031,;HSH2D,missense_variant,p.Glu59Gln,ENST00000397372,;HSH2D,missense_variant,p.Glu148Gln,ENST00000253680,;HSH2D,3_prime_UTR_variant,,ENST00000535834,;HSH2D,3_prime_UTR_variant,,ENST00000587963,;HSH2D,3_prime_UTR_variant,,ENST00000591154,;HSH2D,3_prime_UTR_variant,,ENST00000586872,;HSH2D,3_prime_UTR_variant,,ENST00000589463,;	930	32	31	SUCCESS
ZNF229	7772	.	GRCh37	19	44932418	44932418	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	3	46	0	ENST00000588931.1:c.*60A>G			ENST00000588931	NM_014518.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42574.1	.	MUTECT|MUSE	.	TCTCCTGTGTT	NONE	.	.	.	.	.	ENSP00000466519	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000588931	Transcript	.	.	ENSG00000167383	13022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN229_HUMAN	ZNF229	HGNC	.	.	UPI00001D8174	SNV	ZNF229,3_prime_UTR_variant,,ENST00000588931,;ZNF229,3_prime_UTR_variant,,ENST00000291187,;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	2972	46	46	SUCCESS
CD1A	909	.	GRCh37	1	158227685	158227685	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs746942952	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	8	0	ENST00000289429.5:c.*205C>A			ENST00000289429	NM_001763.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1174.1	.	MUTECT|MUSE	.	TCTGACCTGGG	NONE	.	.	.	.	.	ENSP00000289429	.	6/6	.	.	.	.	.	.	.	.	rs746942952	6/6	PASS	ENST00000289429	Transcript	.	.	ENSG00000158477	1634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD1A_HUMAN	CD1A	HGNC	.	.	UPI0000161A54	SNV	CD1A,3_prime_UTR_variant,,ENST00000289429,;	1722	8	12	SUCCESS
MAP10	54627	.	GRCh37	1	232944495	232944495	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	85	11	76	0	ENST00000418460.1:c.*582A>G			ENST00000418460	NM_019090.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44334.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGATTAAAGTT	NONE	.	.	.	.	.	ENSP00000403208	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000418460	Transcript	.	.	ENSG00000212916	29265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAP10_HUMAN	MAP10	HGNC	.	.	UPI0000418F25	SNV	MAP10,3_prime_UTR_variant,,ENST00000418460,;	3853	76	97	SUCCESS
STX16-NPEPL1	100534593	.	GRCh37	20	57266852	57266852	+	intron_variant,NMD_transcript_variant	Intron	SNP	A	A	G	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	13	51	0	ENST00000530122.1:c.*133+16A>G			ENST00000530122				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGGTACCAAC	NONE	.	817	.	.	.	ENSP00000348395	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356091	Transcript	.	.	ENSG00000215440	16244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PEPL1_HUMAN	NPEPL1	HGNC	H0UI76_HUMAN	.	UPI000036789E	SNV	NPEPL1,missense_variant,p.Tyr11Cys,ENST00000525967,;NPEPL1,intron_variant,,ENST00000525817,;NPEPL1,upstream_gene_variant,,ENST00000356091,;STX16-NPEPL1,non_coding_transcript_exon_variant,,ENST00000413559,;STX16-NPEPL1,intron_variant,,ENST00000530122,;NPEPL1,upstream_gene_variant,,ENST00000529976,;NPEPL1,upstream_gene_variant,,ENST00000533788,;NPEPL1,upstream_gene_variant,,ENST00000527587,;	.	51	62	SUCCESS
KREMEN1	83999	.	GRCh37	22	29563180	29563180	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	25	0	ENST00000327813.5:c.*86A>T			ENST00000327813	NM_032045.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13849.1	.	MUTECT|MUSE	.	CGCACAGAAAT	NONE	.	.	.	.	.	ENSP00000331242	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000327813	Transcript	.	.	ENSG00000183762	17550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KREM1_HUMAN	KREMEN1	HGNC	.	.	UPI000002AD01	SNV	KREMEN1,3_prime_UTR_variant,,ENST00000327813,;	1578	25	25	SUCCESS
MYCN	4613	.	GRCh37	2	16086394	16086394	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	10	0	ENST00000281043.3:c.*175G>A			ENST00000281043	NM_005378.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1687.1	.	MUTECT|MUSE	.	GGAGAGCCTGC	NONE	.	.	.	.	.	ENSP00000281043	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000281043	Transcript	.	.	ENSG00000134323	7559	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYCN_HUMAN	MYCN	HGNC	Q9UMQ5_HUMAN,Q7Z7Q9_HUMAN,Q53XS5_HUMAN	.	UPI000012FAF8	SNV	MYCN,3_prime_UTR_variant,,ENST00000281043,;RN7SL104P,downstream_gene_variant,,ENST00000498686,;MYCNOS,upstream_gene_variant,,ENST00000448719,;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000420452,;	1867	10	9	SUCCESS
SPC25	57405	.	GRCh37	2	169727825	169727825	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	22	0	ENST00000282074.2:c.*116A>T			ENST00000282074	NM_020675.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2229.1	.	MUTECT|MUSE	.	AAACCTGCACA	NONE	.	.	.	.	.	ENSP00000282074	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000282074	Transcript	.	.	ENSG00000152253	24031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPC25_HUMAN	SPC25	HGNC	C9JW94_HUMAN	.	UPI000006D2C9	SNV	SPC25,3_prime_UTR_variant,,ENST00000282074,;SPC25,intron_variant,,ENST00000479309,;	933	22	24	SUCCESS
CPNE4	131034	.	GRCh37	3	131253945	131253945	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	27	0	ENST00000429747.1:c.*94C>T			ENST00000429747	NM_130808.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3072.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATGTTGTTGGT	NONE	.	.	.	.	.	ENSP00000421705	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000512055	Transcript	.	.	ENSG00000196353	2317	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CPNE4_HUMAN	CPNE4	HGNC	Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN	.	UPI0000127C14	SNV	CPNE4,3_prime_UTR_variant,,ENST00000502818,;CPNE4,3_prime_UTR_variant,,ENST00000429747,;CPNE4,3_prime_UTR_variant,,ENST00000512055,;CPNE4,3_prime_UTR_variant,,ENST00000512332,;CPNE4,3_prime_UTR_variant,,ENST00000511604,;CPNE4,non_coding_transcript_exon_variant,,ENST00000503204,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;CPNE4,non_coding_transcript_exon_variant,,ENST00000514439,;RP11-517B11.6,downstream_gene_variant,,ENST00000512197,;	3895	27	22	SUCCESS
PROS1	5627	.	GRCh37	3	93592946	93592946	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	9	46	0	ENST00000394236.3:c.*143C>T			ENST00000394236	NM_000313.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2923.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTGACAAA	NONE	.	.	.	.	.	ENSP00000377783	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000394236	Transcript	.	.	ENSG00000184500	9456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PROS_HUMAN	PROS1	HGNC	Q8IXD5_HUMAN,Q8IXD4_HUMAN,Q8IXD2_HUMAN,Q6J1N0_HUMAN,Q06F35_HUMAN,G5E9F8_HUMAN,C9K0R0_HUMAN,B4E1L6_HUMAN	.	UPI00001323E8	SNV	PROS1,3_prime_UTR_variant,,ENST00000394236,;PROS1,3_prime_UTR_variant,,ENST00000407433,;	2491	46	64	SUCCESS
CSF2	1437	.	GRCh37	5	131409482	131409482	+	upstream_gene_variant	5'Flank	SNP	A	A	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	14	81	0				ENST00000296871	NM_000758.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4150.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCAGTACA	NONE	.	1	.	.	.	ENSP00000296871	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296871	Transcript	.	.	ENSG00000164400	2434	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CSF2_HUMAN	CSF2	HGNC	.	.	UPI00000358DB	SNV	CSF2,upstream_gene_variant,,ENST00000296871,;	.	81	70	SUCCESS
HIST1H2AI	0	.	GRCh37	6	27778311	27778311	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs767184746	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	8	65	0				ENST00000358739	NM_003509.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4627.1	.	RADIA|MUSE|VARSCANS	.	AGCCACCCACA	NONE	.	.	.	.	.	ENSP00000358160	.	1/1	.	.	.	.	.	.	.	.	rs767184746	1/1	PASS	ENST00000369163	Transcript	.	.	ENSG00000203813	4775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H31_HUMAN	HIST1H3H	HGNC	.	.	UPI00000003C7	SNV	HIST1H3H,3_prime_UTR_variant,,ENST00000369163,;HIST1H2BL,upstream_gene_variant,,ENST00000377401,;HIST1H2AJ,downstream_gene_variant,,ENST00000333151,;HIST1H2AI,downstream_gene_variant,,ENST00000358739,;HIST1H2BM,upstream_gene_variant,,ENST00000359465,;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	470	65	64	SUCCESS
CCND3	896	.	GRCh37	6	41903591	41903591	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	13	0	ENST00000372991.4:c.*87T>A			ENST00000372991	NM_001760.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4863.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTAGATGT	NONE	.	.	.	.	.	ENSP00000362082	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000372991	Transcript	.	.	ENSG00000112576	1585	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CCND3_HUMAN	CCND3	HGNC	D6RIX2_HUMAN,D6RDL3_HUMAN	.	UPI00001275C9	SNV	CCND3,stop_lost,p.Ter196LysextTer2,ENST00000510503,;CCND3,3_prime_UTR_variant,,ENST00000414200,;CCND3,3_prime_UTR_variant,,ENST00000415497,;CCND3,3_prime_UTR_variant,,ENST00000511642,;CCND3,3_prime_UTR_variant,,ENST00000372991,;CCND3,3_prime_UTR_variant,,ENST00000372987,;CCND3,3_prime_UTR_variant,,ENST00000372988,;CCND3,downstream_gene_variant,,ENST00000508143,;CCND3,downstream_gene_variant,,ENST00000505064,;CCND3,downstream_gene_variant,,ENST00000514588,;CCND3,downstream_gene_variant,,ENST00000512426,;CCND3,downstream_gene_variant,,ENST00000502771,;BYSL,downstream_gene_variant,,ENST00000230340,;CCND3,downstream_gene_variant,,ENST00000511686,;CCND3,downstream_gene_variant,,ENST00000514382,;CCND3,downstream_gene_variant,,ENST00000506555,;CCND3,downstream_gene_variant,,ENST00000513956,;BYSL,downstream_gene_variant,,ENST00000372996,;CCND3,downstream_gene_variant,,ENST00000510058,;CCND3,downstream_gene_variant,,ENST00000511161,;BYSL,downstream_gene_variant,,ENST00000489290,;CCND3,downstream_gene_variant,,ENST00000505884,;CCND3,downstream_gene_variant,,ENST00000505672,;	1165	13	17	SUCCESS
TNFSF8	944	.	GRCh37	9	117666181	117666181	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs766550159	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	4	29	0	ENST00000223795.2:c.*30C>T			ENST00000223795	NM_001244.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6810.1	.	MUTECT|MUSE	.	GAGGCGCTTTC	NONE	.	.	.	.	.	ENSP00000223795	.	4/4	.	.	.	.	.	.	.	.	rs766550159	4/4	PASS	ENST00000223795	Transcript	.	.	ENSG00000106952	11938	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNFL8_HUMAN	TNFSF8	HGNC	Q52M88_HUMAN	.	UPI0000048FDE	SNV	TNFSF8,3_prime_UTR_variant,,ENST00000223795,;TNFSF8,intron_variant,,ENST00000474301,;	849	29	31	SUCCESS
BEX2	84707	.	GRCh37	X	102564412	102564412	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	12	0				ENST00000372674	NM_001168401.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55467.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGACCCACAAG	NONE	.	.	.	.	.	ENSP00000442521	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000536889	Transcript	.	.	ENSG00000133134	30933	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BEX2_HUMAN	BEX2	HGNC	.	.	UPI0000D4D907	SNV	BEX2,3_prime_UTR_variant,,ENST00000536889,;BEX2,3_prime_UTR_variant,,ENST00000372677,;BEX2,downstream_gene_variant,,ENST00000372674,;BEX2,downstream_gene_variant,,ENST00000449185,;	947	12	14	SUCCESS
FGD1	2245	.	GRCh37	X	54472435	54472435	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-MI-A75E-01	TCGA-MI-A75E-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	29	0	ENST00000375135.3:c.*107T>G			ENST00000375135	NM_004463.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14359.1	.	MUTECT|MUSE	.	CCGTGATGGGA	NONE	.	.	.	.	.	ENSP00000364277	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000375135	Transcript	.	.	ENSG00000102302	3663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FGD1_HUMAN	FGD1	HGNC	.	.	UPI000012A705	SNV	FGD1,3_prime_UTR_variant,,ENST00000375135,;TSR2,downstream_gene_variant,,ENST00000375151,;	3727	29	29	SUCCESS
RAB39A	54734	.	GRCh37	11	107833130	107833130	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	45	53	0	ENST00000320578.2:c.*32G>C			ENST00000320578	NM_017516.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8338.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAACAGATTGG	NONE	.	.	.	.	.	ENSP00000322594	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320578	Transcript	.	.	ENSG00000179331	16521	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RB39A_HUMAN	RAB39A	HGNC	.	.	UPI000006FF11	SNV	RAB39A,3_prime_UTR_variant,,ENST00000320578,;	752	53	86	SUCCESS
ARHGEF12	23365	.	GRCh37	11	120355935	120355935	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	8	0	ENST00000397843.2:c.*149C>G			ENST00000397843	NM_015313.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS41727.1	.	MUTECT|MUSE|VARSCANS	.	GTGCCCAGAGT	NONE	.	.	.	.	.	ENSP00000380942	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000397843	Transcript	.	.	ENSG00000196914	14193	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ARHGC_HUMAN	ARHGEF12	HGNC	E9PMR6_HUMAN	.	UPI00000708ED	SNV	ARHGEF12,3_prime_UTR_variant,,ENST00000532993,;ARHGEF12,3_prime_UTR_variant,,ENST00000397843,;ARHGEF12,3_prime_UTR_variant,,ENST00000356641,;	4950	8	20	SUCCESS
GLB1L2	89944	.	GRCh37	11	134244990	134244990	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	23	59	0	ENST00000339772.7:c.*38T>C			ENST00000339772				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31724.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGACTGCCGC	NONE	.	.	.	.	.	ENSP00000444628	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000535456	Transcript	.	.	ENSG00000149328	25129	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GLBL2_HUMAN	GLB1L2	HGNC	Q8NCG3_HUMAN	.	UPI0000074534	SNV	GLB1L2,3_prime_UTR_variant,,ENST00000525089,;GLB1L2,3_prime_UTR_variant,,ENST00000535456,;GLB1L2,3_prime_UTR_variant,,ENST00000389881,;GLB1L2,3_prime_UTR_variant,,ENST00000339772,;B3GAT1,downstream_gene_variant,,ENST00000312527,;B3GAT1,downstream_gene_variant,,ENST00000392580,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,downstream_gene_variant,,ENST00000533355,;B3GAT1,downstream_gene_variant,,ENST00000531778,;	2137	59	46	SUCCESS
PSEN1	5663	.	GRCh37	14	73686062	73686062	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	43	64	0	ENST00000324501.5:c.*65A>C			ENST00000324501	NM_000021.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9812.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGACAAAGGTG	NONE	.	.	.	.	.	ENSP00000326366	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000324501	Transcript	.	.	ENSG00000080815	9508	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSN1_HUMAN	PSEN1	HGNC	G3V4P4_HUMAN,G3V4M0_HUMAN,G3V2G7_HUMAN,E7ES96_HUMAN	.	UPI000003F05F	SNV	PSEN1,3_prime_UTR_variant,,ENST00000394164,;PSEN1,3_prime_UTR_variant,,ENST00000406768,;PSEN1,3_prime_UTR_variant,,ENST00000344094,;PSEN1,3_prime_UTR_variant,,ENST00000261970,;PSEN1,3_prime_UTR_variant,,ENST00000324501,;PSEN1,3_prime_UTR_variant,,ENST00000357710,;PSEN1,downstream_gene_variant,,ENST00000557511,;PSEN1,non_coding_transcript_exon_variant,,ENST00000555867,;PSEN1,downstream_gene_variant,,ENST00000553855,;PSEN1,downstream_gene_variant,,ENST00000555386,;	1741	64	111	SUCCESS
CTXN2	399697	.	GRCh37	15	48493817	48493817	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	86	5	73	0	ENST00000417307.2:c.*74G>T			ENST00000417307	NM_001145668.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45254.1	.	MUTECT|MUSE	.	TGAGGGTGTGG	NONE	.	.	.	.	.	ENSP00000406145	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000417307	Transcript	.	.	ENSG00000233932	31109	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CTXN2_HUMAN	CTXN2	HGNC	.	.	UPI00005A8DAF	SNV	CTXN2,3_prime_UTR_variant,,ENST00000541248,;CTXN2,3_prime_UTR_variant,,ENST00000417307,;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,upstream_gene_variant,,ENST00000396577,;SLC12A1,upstream_gene_variant,,ENST00000380993,;RP11-605F22.1,non_coding_transcript_exon_variant,,ENST00000559875,;SLC12A1,intron_variant,,ENST00000561127,;	692	73	91	SUCCESS
C2CD4A	145741	.	GRCh37	15	62362560	62362560	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	38	78	0	ENST00000355522.5:c.*1638T>C			ENST00000355522	NM_207322.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32258.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCAGTGGTGT	NONE	.	.	.	.	.	ENSP00000347712	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355522	Transcript	.	.	ENSG00000198535	33627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2C4A_HUMAN	C2CD4A	HGNC	.	.	UPI0000140CF2	SNV	C2CD4A,3_prime_UTR_variant,,ENST00000355522,;	2889	78	146	SUCCESS
ATMIN	23300	.	GRCh37	16	81078741	81078741	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000299575.4:c.*166A>G			ENST00000299575	NM_015251.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32494.1	.	RADIA|MUTECT|MUSE	.	TGCGTATAAAT	NONE	.	.	.	.	.	ENSP00000299575	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000299575	Transcript	.	.	ENSG00000166454	29034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ATMIN_HUMAN	ATMIN	HGNC	J3QRX7_HUMAN,D3DUL0_HUMAN	.	UPI00001B2485	SNV	ATMIN,3_prime_UTR_variant,,ENST00000566488,;ATMIN,3_prime_UTR_variant,,ENST00000564241,;ATMIN,3_prime_UTR_variant,,ENST00000299575,;ATMIN,downstream_gene_variant,,ENST00000565237,;ATMIN,non_coding_transcript_exon_variant,,ENST00000539819,;ATMIN,downstream_gene_variant,,ENST00000562969,;	2662	11	12	SUCCESS
CCBE1	147372	.	GRCh37	18	57103048	57103048	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	5	37	0	ENST00000439986.4:c.*92G>C			ENST00000439986	NM_133459.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32838.1	.	MUTECT|MUSE	.	GTTTTCTAGGT	NONE	.	.	.	.	.	ENSP00000404464	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000439986	Transcript	.	.	ENSG00000183287	29426	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCBE1_HUMAN	CCBE1	HGNC	K7EQ81_HUMAN	.	UPI000004C616	SNV	CCBE1,3_prime_UTR_variant,,ENST00000398179,;CCBE1,3_prime_UTR_variant,,ENST00000439986,;CCBE1,non_coding_transcript_exon_variant,,ENST00000589116,;	1351	37	30	SUCCESS
MIR517C	574492	.	GRCh37	19	54244564	54244564	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	32	52	0				ENST00000385103				0	.	.	.	.	.	A	.	snRNA	YES	.	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGCAAGAA	NONE	.	3694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000516216	Transcript	.	.	ENSG00000252025	47945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RNU6-982P	HGNC	.	.	.	SNV	RNU6-982P,downstream_gene_variant,,ENST00000516216,;MIR516B1,downstream_gene_variant,,ENST00000385211,;MIR520H,upstream_gene_variant,,ENST00000385126,;MIR517C,upstream_gene_variant,,ENST00000385103,;MIR518A2,downstream_gene_variant,,ENST00000384966,;	.	52	95	SUCCESS
CD209	30835	.	GRCh37	19	7805531	7805531	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	9	44	0	ENST00000315599.7:c.*2394C>G			ENST00000315599	NM_021155.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12186.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAGAGGCA	NONE	.	.	.	.	.	ENSP00000315477	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000315599	Transcript	1	.	ENSG00000090659	1641	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CD209_HUMAN	CD209	HGNC	B4E2A8_HUMAN	.	UPI000003422C	SNV	CD209,3_prime_UTR_variant,,ENST00000301357,;CD209,3_prime_UTR_variant,,ENST00000315599,;CD209,downstream_gene_variant,,ENST00000315591,;CD209,downstream_gene_variant,,ENST00000593660,;CD209,downstream_gene_variant,,ENST00000601256,;CD209,downstream_gene_variant,,ENST00000204801,;CD209,downstream_gene_variant,,ENST00000394161,;CD209,downstream_gene_variant,,ENST00000394173,;CD209,downstream_gene_variant,,ENST00000354397,;CD209,downstream_gene_variant,,ENST00000602261,;CD209,downstream_gene_variant,,ENST00000601951,;CD209,downstream_gene_variant,,ENST00000593821,;	3632	44	48	SUCCESS
FAM102B	284611	.	GRCh37	1	109177819	109177819	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs377241428	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	38	19	65	0	ENST00000370035.3:c.*47A>T			ENST00000370035	NM_001010883.2			0	T:0.0002	.	.	.	.	T	.	protein_coding	YES	CCDS30786.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGTAGTTGA	NONE	byCluster	.	.	.	T:0	ENSP00000359052	.	11/11	.	.	.	.	.	.	.	.	rs377241428	11/11	PASS	ENST00000370035	Transcript	.	.	ENSG00000162636	27637	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F102B_HUMAN	FAM102B	HGNC	.	.	UPI00001D7585	SNV	FAM102B,3_prime_UTR_variant,,ENST00000370035,;FAM102B,intron_variant,,ENST00000405454,;FAM102B,non_coding_transcript_exon_variant,,ENST00000483371,;	1470	65	58	SUCCESS
SPRR1B	6699	.	GRCh37	1	153005352	153005352	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs557843188	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	29	0	ENST00000307098.4:c.*261C>A			ENST00000307098	NM_003125.2			0	.	G:0	.	G:0	.	A	.	protein_coding	YES	CCDS30863.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACCCCCATT	NONE	by1000G	.	.	G:0	.	ENSP00000306461	G:0	2/2	.	.	.	.	.	.	.	.	rs557843188	2/2	PASS	ENST00000307098	Transcript	.	G:0.0002	ENSG00000169469	11260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0.001	.	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,3_prime_UTR_variant,,ENST00000307098,;SPRR1B,downstream_gene_variant,,ENST00000392661,;	596	29	25	SUCCESS
SPRR1B	6699	.	GRCh37	1	153005353	153005353	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	30	0	ENST00000307098.4:c.*262C>T			ENST00000307098	NM_003125.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30863.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACCCCCATTA	NONE	.	.	.	.	.	ENSP00000306461	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000307098	Transcript	.	.	ENSG00000169469	11260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPR1B_HUMAN	SPRR1B	HGNC	.	.	UPI000013EBC7	SNV	SPRR1B,3_prime_UTR_variant,,ENST00000307098,;SPRR1B,downstream_gene_variant,,ENST00000392661,;	597	30	25	SUCCESS
ASPM	259266	.	GRCh37	1	197053336	197053336	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	20	11	0	ENST00000367409.4:c.*118A>G			ENST00000367409	NM_018136.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1389.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGTTTTTTT	NONE	.	.	.	.	.	ENSP00000356379	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000367409	Transcript	.	.	ENSG00000066279	19048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASPM_HUMAN	ASPM	HGNC	.	.	UPI0000458904	SNV	ASPM,3_prime_UTR_variant,,ENST00000367409,;ASPM,3_prime_UTR_variant,,ENST00000367408,;ASPM,3_prime_UTR_variant,,ENST00000294732,;	10809	11	30	SUCCESS
BTG2	7832	.	GRCh37	1	203276590	203276590	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	23	0	ENST00000290551.4:c.*24G>A			ENST00000290551	NM_006763.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1437.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TGGGCGCCGCC	NONE	.	.	.	.	.	ENSP00000290551	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000290551	Transcript	.	.	ENSG00000159388	1131	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BTG2_HUMAN	BTG2	HGNC	.	.	UPI000011DD3B	SNV	BTG2,3_prime_UTR_variant,,ENST00000290551,;LINC01136,upstream_gene_variant,,ENST00000425698,;LINC01136,upstream_gene_variant,,ENST00000432511,;LINC01136,upstream_gene_variant,,ENST00000457348,;BTG2,3_prime_UTR_variant,,ENST00000475157,;	572	23	29	SUCCESS
GNAS-AS1	149775	.	GRCh37	20	57428390	57428390	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs891399377	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	106	11	63	0				ENST00000424094		24		0	.	.	.	.	.	A	E/K	protein_coding	YES	CCDS46622.1	70	MUSE|VARSCANS	.	TCGGGGAACAG	NONE	.	.	Low_complexity_(Seg):seg	.	.	ENSP00000360141	.	1/13	.	.	.	.	.	.	.	.	.	1/13	PASS	ENST00000371100	Transcript	1	.	ENSG00000087460	4392	.	.	MODERATE	.	PRIMARY	.	.	.	.	2	.	.	.	unknown(0)	.	deleterious_low_confidence(0)	.	GNAS1_HUMAN	GNAS	HGNC	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN	.	UPI0000E444AE	SNV	GNAS,missense_variant,p.Glu24Lys,ENST00000371102,;GNAS,missense_variant,p.Glu24Lys,ENST00000371099,;GNAS,missense_variant,p.Glu24Lys,ENST00000371100,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000371075,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS,upstream_gene_variant,,ENST00000306120,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000467227,;GNAS,upstream_gene_variant,,ENST00000481768,;	622	63	117	SUCCESS
MIEF1	54471	.	GRCh37	22	39913376	39913376	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	12	0	ENST00000325301.2:c.*3048A>G			ENST00000325301	NM_019008.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13995.1	.	MUTECT|MUSE	.	TTTAAATAAAT	NONE	.	.	.	.	.	ENSP00000327124	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000325301	Transcript	.	.	ENSG00000100335	25979	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MID51_HUMAN	MIEF1	HGNC	B0QY94_HUMAN	.	UPI000006FEB4	SNV	MIEF1,3_prime_UTR_variant,,ENST00000325301,;ATF4,upstream_gene_variant,,ENST00000337304,;MIEF1,downstream_gene_variant,,ENST00000402881,;MIEF1,downstream_gene_variant,,ENST00000404569,;ATF4,upstream_gene_variant,,ENST00000396680,;ATF4,upstream_gene_variant,,ENST00000404241,;MIEF1,downstream_gene_variant,,ENST00000428069,;MIEF1,downstream_gene_variant,,ENST00000433117,;	4864	12	15	SUCCESS
DHX57	90957	.	GRCh37	2	39081308	39081308	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	22	67	1	ENST00000457308.1:c.*216A>G			ENST00000457308		640		0	.	.	.	.	.	C	R/G	protein_coding	YES	CCDS1800.1	1918	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGTCTGGTGG	NONE	.	.	PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	.	.	ENSP00000295373	.	9/24	.	.	.	.	.	.	.	.	.	9/24	PASS	ENST00000295373	Transcript	.	.	ENSG00000163214	20086	.	.	MODERATE	.	PRIMARY	.	.	.	.	4	.	.	.	probably_damaging(1)	.	deleterious(0)	.	DHX57_HUMAN	DHX57	HGNC	C9J207_HUMAN,B4DKW2_HUMAN	.	UPI0000231C8C	SNV	DHX57,missense_variant,p.Arg640Gly,ENST00000295373,;DHX57,downstream_gene_variant,,ENST00000492042,;DHX57,downstream_gene_variant,,ENST00000479345,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000474104,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;	2045	68	71	SUCCESS
CHAC2	494143	.	GRCh37	2	54001836	54001836	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	8	0	ENST00000295304.4:c.*174A>T			ENST00000295304	NM_001008708.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33196.1	.	MUTECT|MUSE	.	TTCAAATTTTA	NONE	.	.	.	.	.	ENSP00000295304	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295304	Transcript	.	.	ENSG00000143942	32363	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CHAC2_HUMAN	CHAC2	HGNC	.	.	UPI000003616C	SNV	CHAC2,3_prime_UTR_variant,,ENST00000295304,;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000394717,;GPR75-ASB3,intron_variant,,ENST00000263634,;GPR75-ASB3,intron_variant,,ENST00000406687,;GPR75-ASB3,intron_variant,,ENST00000352846,;GPR75-ASB3,intron_variant,,ENST00000414369,;ASB3,intron_variant,,ENST00000459916,;ASB3,intron_variant,,ENST00000498475,;GPR75-ASB3,intron_variant,,ENST00000470916,;	824	8	10	SUCCESS
SMIM43	0	.	GRCh37	4	122681293	122681293	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	10	0	ENST00000337677.5:c.*156G>C			ENST00000337677	NM_152399.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3721.1	.	MUTECT|MUSE	.	TTGATCTTTTT	NONE	.	.	.	.	.	ENSP00000336987	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000337677	Transcript	.	.	ENSG00000164112	26418	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TM155_HUMAN	TMEM155	HGNC	D6R9V5_HUMAN	.	UPI000013E350	SNV	TMEM155,3_prime_UTR_variant,,ENST00000394396,;TMEM155,3_prime_UTR_variant,,ENST00000394394,;TMEM155,3_prime_UTR_variant,,ENST00000337677,;TMEM155,downstream_gene_variant,,ENST00000514885,;AC079341.1,upstream_gene_variant,,ENST00000424958,;TMEM155,non_coding_transcript_exon_variant,,ENST00000461198,;TMEM155,downstream_gene_variant,,ENST00000513254,;TMEM155,downstream_gene_variant,,ENST00000506551,;TMEM155,downstream_gene_variant,,ENST00000505198,;	1108	10	8	SUCCESS
PCDH10	57575	.	GRCh37	4	134111424	134111424	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	74	51	94	0	ENST00000264360.5:c.*109C>G			ENST00000264360	NM_032961.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34063.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTAACTGAGT	NONE	.	.	.	.	.	ENSP00000264360	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264360	Transcript	.	.	ENSG00000138650	13404	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCD10_HUMAN	PCDH10	HGNC	Q9NSR3_HUMAN	.	UPI0000161C61	SNV	PCDH10,3_prime_UTR_variant,,ENST00000264360,;PCDH10,intron_variant,,ENST00000511112,;	4058	94	126	SUCCESS
PPID	5481	.	GRCh37	4	159630850	159630850	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs895129759	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	12	16	0	ENST00000307720.3:c.*38A>G			ENST00000307720	NM_005038.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3801.1	.	MUTECT|MUSE	.	GCATTTATACA	NONE	.	.	.	.	.	ENSP00000303754	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000307720	Transcript	.	.	ENSG00000171497	9257	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPID_HUMAN	PPID	HGNC	E5KN55_HUMAN	.	UPI0000128C6B	SNV	PPID,3_prime_UTR_variant,,ENST00000307720,;ETFDH,downstream_gene_variant,,ENST00000307738,;PPID,downstream_gene_variant,,ENST00000507213,;ETFDH,downstream_gene_variant,,ENST00000511912,;ETFDH,downstream_gene_variant,,ENST00000506422,;PPID,downstream_gene_variant,,ENST00000512699,;	1259	16	37	SUCCESS
C6orf120	387263	.	GRCh37	6	170104217	170104217	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs370407642	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	56	100	0	ENST00000332290.2:c.*1086A>C			ENST00000332290	NM_001029863.1			0	.	C:0	.	C:0	.	C	.	protein_coding	YES	CCDS34575.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAAATTATC	NONE	byFrequency|byCluster|by1000G	.	.	C:0.004	.	ENSP00000346931	C:0	1/1	.	.	.	.	.	.	.	.	rs370407642	1/1	PASS	ENST00000332290	Transcript	.	C:0.0018	ENSG00000185127	21247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.0051	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,3_prime_UTR_variant,,ENST00000332290,;PHF10,intron_variant,,ENST00000366780,;PHF10,intron_variant,,ENST00000339209,;C6orf120,downstream_gene_variant,,ENST00000439249,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	1961	100	88	SUCCESS
NOTCH4	4855	.	GRCh37	6	32163206	32163206	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	9	0	ENST00000375023.3:c.*8C>A			ENST00000375023	NM_004557.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34420.1	.	MUTECT|MUSE|VARSCANS	.	ACCATGTATTC	NONE	.	.	.	.	.	ENSP00000364163	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000375023	Transcript	.	.	ENSG00000204301	7884	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NOTC4_HUMAN	NOTCH4	HGNC	.	.	UPI0000130571	SNV	NOTCH4,3_prime_UTR_variant,,ENST00000375023,;GPSM3,5_prime_UTR_variant,,ENST00000375043,;GPSM3,upstream_gene_variant,,ENST00000487761,;NOTCH4,downstream_gene_variant,,ENST00000443903,;GPSM3,upstream_gene_variant,,ENST00000375040,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	6159	9	39	SUCCESS
HSP90AB1	3326	.	GRCh37	6	44221453	44221453	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs567895542	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	69	65	78	0	ENST00000353801.3:c.*118T>C			ENST00000353801	NM_001271969.1			0	.	C:0.0008	.	C:0	.	C	.	protein_coding	YES	CCDS4909.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTTCCCTC	NONE	by1000G	.	.	C:0	.	ENSP00000360609	C:0	12/12	.	.	.	.	.	.	.	.	rs567895542	12/12	PASS	ENST00000371554	Transcript	.	C:0.0002	ENSG00000096384	5258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	HS90B_HUMAN	HSP90AB1	HGNC	A8K3W9_HUMAN	.	UPI00001411EF	SNV	HSP90AB1,3_prime_UTR_variant,,ENST00000371646,;HSP90AB1,3_prime_UTR_variant,,ENST00000353801,;HSP90AB1,3_prime_UTR_variant,,ENST00000371554,;SLC35B2,downstream_gene_variant,,ENST00000538577,;SLC35B2,downstream_gene_variant,,ENST00000537814,;SLC35B2,downstream_gene_variant,,ENST00000393810,;NFKBIE,downstream_gene_variant,,ENST00000275015,;NFKBIE,downstream_gene_variant,,ENST00000443607,;SLC35B2,downstream_gene_variant,,ENST00000393812,;MIR4647,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	2507	79	134	SUCCESS
SYNCRIP	10492	.	GRCh37	6	86322505	86322505	+	downstream_gene_variant	3'Flank	SNP	T	T	C	rs936790053	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	7	24	0				ENST00000369622	NM_001159675.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5005.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATATGCTCC	NONE	.	1319	.	.	.	ENSP00000358635	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369622	Transcript	.	.	ENSG00000135316	16918	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRPQ_HUMAN	SYNCRIP	HGNC	F6UXX1_HUMAN	.	UPI000013CF84	SNV	SYNCRIP,3_prime_UTR_variant,,ENST00000355238,;SYNCRIP,downstream_gene_variant,,ENST00000369622,;RP11-321N4.5,intron_variant,,ENST00000503906,;	.	24	24	SUCCESS
MAP3K7	6885	.	GRCh37	6	91226159	91226159	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	7	76	0	ENST00000369329.3:c.*61A>T			ENST00000369329	NM_145331.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5028.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGGTTTTCCTT	NONE	.	.	.	.	.	ENSP00000358335	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000369329	Transcript	.	.	ENSG00000135341	6859	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	M3K7_HUMAN	MAP3K7	HGNC	.	.	UPI000012EAD6	SNV	MAP3K7,3_prime_UTR_variant,,ENST00000369325,;MAP3K7,3_prime_UTR_variant,,ENST00000369329,;MAP3K7,3_prime_UTR_variant,,ENST00000369320,;MAP3K7,3_prime_UTR_variant,,ENST00000369332,;MAP3K7,3_prime_UTR_variant,,ENST00000369327,;MAP3K7,non_coding_transcript_exon_variant,,ENST00000479630,;	2044	76	67	SUCCESS
MTPN	136319	.	GRCh37	7	135613067	135613067	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs745619467	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	72	9	32	0	ENST00000393085.3:c.*1607A>G			ENST00000393085	NM_145808.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACCTATACACC	NONE	.	.	.	.	.	ENSP00000396652	.	1/1	.	.	.	.	.	.	.	.	rs745619467	1/1	PASS	ENST00000416501	Transcript	.	.	ENSG00000236338	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	AC015987.2	Clone_based_ensembl_gene	Q9H388_HUMAN	.	UPI0000070C6D	SNV	AC015987.2,3_prime_UTR_variant,,ENST00000416501,;MTPN,3_prime_UTR_variant,,ENST00000393085,;LUZP6,upstream_gene_variant,,ENST00000589735,;MTPN,downstream_gene_variant,,ENST00000435723,;AC015987.1,intron_variant,,ENST00000419211,;	1526	32	81	SUCCESS
FZD1	8321	.	GRCh37	7	90896636	90896636	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	63	4	17	0	ENST00000287934.2:c.*497G>A			ENST00000287934	NM_003505.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5620.1	.	MUTECT|MUSE	.	TGGGCGCCAGC	NONE	.	.	.	.	.	ENSP00000287934	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000287934	Transcript	.	.	ENSG00000157240	4038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FZD1_HUMAN	FZD1	HGNC	.	.	UPI000005104D	SNV	FZD1,3_prime_UTR_variant,,ENST00000287934,;	2854	17	67	SUCCESS
MELK	9833	.	GRCh37	9	36677403	36677403	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-MI-A75G-01	TCGA-MI-A75G-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	9	18	0	ENST00000298048.2:c.*69C>A			ENST00000298048	NM_014791.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6606.1	.	MUTECT|MUSE	.	ATGATCGCTTT	NONE	.	.	.	.	.	ENSP00000298048	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000298048	Transcript	.	.	ENSG00000165304	16870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MELK_HUMAN	MELK	HGNC	A7BG63_HUMAN	.	UPI000004776B	SNV	MELK,3_prime_UTR_variant,,ENST00000536860,;MELK,3_prime_UTR_variant,,ENST00000541717,;MELK,3_prime_UTR_variant,,ENST00000536987,;MELK,3_prime_UTR_variant,,ENST00000545008,;MELK,3_prime_UTR_variant,,ENST00000298048,;MELK,3_prime_UTR_variant,,ENST00000543751,;MELK,3_prime_UTR_variant,,ENST00000536329,;MELK,3_prime_UTR_variant,,ENST00000538311,;	2209	18	12	SUCCESS
CCL4	6351	.	GRCh37	17	34432826	34432826	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	45	20	89	0	ENST00000250151.4:c.*121A>G			ENST00000250151	NM_002984.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11308.1	.	MUTECT|MUSE	.	ATTTAATCTTT	NONE	.	.	.	.	.	ENSP00000250151	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000250151	Transcript	.	.	ENSG00000129277	10630	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCL4_HUMAN	CCL4	HGNC	.	.	UPI00001362CC	SNV	CCL4,3_prime_UTR_variant,,ENST00000250151,;CCL4,3_prime_UTR_variant,,ENST00000394495,;RN7SL301P,upstream_gene_variant,,ENST00000580733,;CCL4,non_coding_transcript_exon_variant,,ENST00000591883,;	716	89	65	SUCCESS
ZNF99	7652	.	GRCh37	19	22939414	22939414	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs556678774	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	44	88	0				ENST00000596209	NM_001080409.2			0	.	C:0.0015	.	C:0	.	A	.	protein_coding	YES	CCDS59369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTCTTCACA	NONE	byFrequency|by1000G	702	.	C:0	.	ENSP00000472969	C:0	.	.	.	.	.	.	.	.	.	rs556678774	.	PASS	ENST00000596209	Transcript	.	C:0.0004	ENSG00000213973	13175	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0	.	.	.	ZNF99	HGNC	M0R335_HUMAN	.	UPI0000426011	SNV	ZNF99,missense_variant,p.Glu919Asp,ENST00000397104,;ZNF99,downstream_gene_variant,,ENST00000596209,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	.	88	97	SUCCESS
ZNF211	10520	.	GRCh37	19	58153579	58153579	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	11	20	0	ENST00000347302.3:c.*30G>C			ENST00000347302	NM_198855.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58686.1	.	MUTECT|MUSE	.	TTTTAGTGTAA	NONE	.	.	.	.	.	ENSP00000299871	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000299871	Transcript	.	.	ENSG00000121417	13003	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN211_HUMAN	ZNF211	HGNC	.	.	UPI0000D4CB1A	SNV	ZNF211,3_prime_UTR_variant,,ENST00000254182,;ZNF211,3_prime_UTR_variant,,ENST00000240731,;ZNF211,3_prime_UTR_variant,,ENST00000544273,;ZNF211,3_prime_UTR_variant,,ENST00000541801,;ZNF211,3_prime_UTR_variant,,ENST00000299871,;ZNF211,3_prime_UTR_variant,,ENST00000347302,;ZNF211,3_prime_UTR_variant,,ENST00000391703,;ZNF211,3_prime_UTR_variant,,ENST00000407202,;ZNF211,downstream_gene_variant,,ENST00000420680,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;	2051	20	42	SUCCESS
SLC19A1	6573	.	GRCh37	21	46935517	46935517	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1396724697	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	30	0	ENST00000311124.4:c.*55C>A			ENST00000311124	NM_194255.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13725.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGGTCGTG	NONE	.	.	.	.	.	ENSP00000308895	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000311124	Transcript	.	.	ENSG00000173638	10937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S19A1_HUMAN	SLC19A1	HGNC	E9PIL5_HUMAN,D3DSM6_HUMAN,C9JKP4_HUMAN,C9J8K6_HUMAN	.	UPI000012AA0F	SNV	SLC19A1,3_prime_UTR_variant,,ENST00000311124,;SLC19A1,3_prime_UTR_variant,,ENST00000485649,;SLC19A1,intron_variant,,ENST00000567670,;SLC19A1,intron_variant,,ENST00000380010,;SLC19A1,intron_variant,,ENST00000417954,;COL18A1,downstream_gene_variant,,ENST00000359759,;COL18A1,downstream_gene_variant,,ENST00000355480,;COL18A1,downstream_gene_variant,,ENST00000423214,;COL18A1,downstream_gene_variant,,ENST00000342220,;COL18A1,downstream_gene_variant,,ENST00000400337,;SLC19A1,intron_variant,,ENST00000460174,;SLC19A1,upstream_gene_variant,,ENST00000468508,;COL18A1,downstream_gene_variant,,ENST00000473212,;	1984	30	22	SUCCESS
XIRP2	129446	.	GRCh37	2	168115372	168115372	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs371997749	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	44	127	0	ENST00000409195.1:c.*1045G>A			ENST00000409195	NM_152381.5			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS42769.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCGAGGAA	NONE	byCluster	.	.	.	A:0.0001	ENSP00000386840	.	11/11	.	.	.	.	.	.	.	.	rs371997749	11/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,synonymous_variant,p.%3D,ENST00000409605,;XIRP2,synonymous_variant,p.%3D,ENST00000420519,;XIRP2,synonymous_variant,p.%3D,ENST00000409756,;XIRP2,synonymous_variant,p.%3D,ENST00000409043,;XIRP2,synonymous_variant,p.%3D,ENST00000409728,;XIRP2,3_prime_UTR_variant,,ENST00000409273,;XIRP2,3_prime_UTR_variant,,ENST00000409195,;XIRP2,3_prime_UTR_variant,,ENST00000295237,;	11784	127	135	SUCCESS
GMCL1	64395	.	GRCh37	2	70106161	70106161	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	40	141	0	ENST00000282570.3:c.*25A>T			ENST00000282570	NM_178439.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1895.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAGAAAA	NONE	.	.	.	.	.	ENSP00000282570	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000282570	Transcript	.	.	ENSG00000087338	23843	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GMCL1_HUMAN	GMCL1	HGNC	Q53SE7_HUMAN	.	UPI00000704BE	SNV	GMCL1,3_prime_UTR_variant,,ENST00000282570,;GMCL1,downstream_gene_variant,,ENST00000495047,;	1824	141	115	SUCCESS
C5orf30	0	.	GRCh37	5	102612689	102612689	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	221	104	359	0	ENST00000319933.2:c.*448A>T			ENST00000319933	NM_033211.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4095.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGAACTTGA	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000515669,;C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;	1377	359	326	SUCCESS
RNF182	221687	.	GRCh37	6	13978832	13978832	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	140	29	100	0	ENST00000488300.1:c.*738G>A			ENST00000488300	NM_152737.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4531.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGGAGAAG	NONE	.	.	.	.	.	ENSP00000420465	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000488300	Transcript	.	.	ENSG00000180537	28522	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RN182_HUMAN	RNF182	HGNC	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN	.	UPI000006E1CA	SNV	RNF182,3_prime_UTR_variant,,ENST00000537663,;RNF182,3_prime_UTR_variant,,ENST00000544682,;RNF182,3_prime_UTR_variant,,ENST00000488300,;RNF182,3_prime_UTR_variant,,ENST00000537388,;RNF182,downstream_gene_variant,,ENST00000471906,;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000488763,;	2005	100	169	SUCCESS
PRRC2A	7916	.	GRCh37	6	31606829	31606829	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	16	0				ENST00000376007	NM_080686.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47403.1	.	MUTECT|MUSE	.	AAAATCCGACT	NONE	.	.	.	.	.	ENSP00000365131	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000375964	Transcript	.	.	ENSG00000204463	13919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BAG6_HUMAN	BAG6	HGNC	F6TC96_HUMAN,F6RG75_HUMAN	.	UPI000047029D	SNV	BAG6,3_prime_UTR_variant,,ENST00000375976,;BAG6,3_prime_UTR_variant,,ENST00000362049,;BAG6,3_prime_UTR_variant,,ENST00000375964,;BAG6,3_prime_UTR_variant,,ENST00000211379,;BAG6,3_prime_UTR_variant,,ENST00000441793,;BAG6,3_prime_UTR_variant,,ENST00000404765,;BAG6,3_prime_UTR_variant,,ENST00000422948,;BAG6,3_prime_UTR_variant,,ENST00000439687,;BAG6,downstream_gene_variant,,ENST00000437771,;PRRC2A,downstream_gene_variant,,ENST00000376033,;BAG6,downstream_gene_variant,,ENST00000453833,;PRRC2A,downstream_gene_variant,,ENST00000376007,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,non_coding_transcript_exon_variant,,ENST00000464869,;BAG6,non_coding_transcript_exon_variant,,ENST00000464126,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,downstream_gene_variant,,ENST00000470875,;BAG6,downstream_gene_variant,,ENST00000465348,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;PRRC2A,downstream_gene_variant,,ENST00000487089,;PRRC2A,downstream_gene_variant,,ENST00000469501,;PRRC2A,downstream_gene_variant,,ENST00000484787,;PRRC2A,downstream_gene_variant,,ENST00000492691,;BAG6,downstream_gene_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000460302,;PRRC2A,downstream_gene_variant,,ENST00000487839,;	3792	16	29	SUCCESS
ZNF451	26036	.	GRCh37	6	57033397	57033397	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	5	35	0	ENST00000370706.4:c.*130T>C			ENST00000370706	NM_001031623.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43477.1	.	MUTECT|MUSE	.	TTTCATATGTT	NONE	.	.	.	.	.	ENSP00000359740	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000370706	Transcript	.	.	ENSG00000112200	21091	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN451_HUMAN	ZNF451	HGNC	Q96JY2_HUMAN,D6RAV4_HUMAN	.	UPI000004A571	SNV	ZNF451,3_prime_UTR_variant,,ENST00000357489,;ZNF451,3_prime_UTR_variant,,ENST00000370706,;BAG2,upstream_gene_variant,,ENST00000370693,;BAG2,upstream_gene_variant,,ENST00000545080,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000590164,;RP11-203B9.4,intron_variant,,ENST00000589263,;RP11-203B9.4,intron_variant,,ENST00000588819,;RP11-203B9.4,intron_variant,,ENST00000589312,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,intron_variant,,ENST00000586466,;RP11-203B9.4,intron_variant,,ENST00000592785,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,intron_variant,,ENST00000589549,;RP11-203B9.4,intron_variant,,ENST00000589394,;RP11-203B9.4,downstream_gene_variant,,ENST00000585414,;RP11-203B9.4,downstream_gene_variant,,ENST00000586234,;RP11-203B9.4,downstream_gene_variant,,ENST00000609545,;ZNF451,3_prime_UTR_variant,,ENST00000504603,;ZNF451,non_coding_transcript_exon_variant,,ENST00000504364,;	3560	35	27	SUCCESS
PNPLA8	50640	.	GRCh37	7	108112747	108112747	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	73	44	160	1	ENST00000257694.8:c.*98T>A			ENST00000257694	NM_001256007.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34733.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACGTATTTCA	NONE	.	.	.	.	.	ENSP00000410804	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000422087	Transcript	.	.	ENSG00000135241	28900	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLPL8_HUMAN	PNPLA8	HGNC	C9JAX4_HUMAN,C9J9W9_HUMAN	.	UPI0000073D34	SNV	PNPLA8,3_prime_UTR_variant,,ENST00000453144,;PNPLA8,3_prime_UTR_variant,,ENST00000257694,;PNPLA8,3_prime_UTR_variant,,ENST00000388728,;PNPLA8,3_prime_UTR_variant,,ENST00000426128,;PNPLA8,3_prime_UTR_variant,,ENST00000422087,;PNPLA8,3_prime_UTR_variant,,ENST00000436062,;PNPLA8,downstream_gene_variant,,ENST00000453085,;	2854	161	117	SUCCESS
NEUROD6	63974	.	GRCh37	7	31377865	31377865	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	37	19	68	0	ENST00000297142.3:c.*4G>A			ENST00000297142	NM_022728.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5434.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCCTCATT	NONE	.	.	.	.	.	ENSP00000297142	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000297142	Transcript	.	.	ENSG00000164600	13804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NDF6_HUMAN	NEUROD6	HGNC	.	.	UPI000000D77D	SNV	NEUROD6,3_prime_UTR_variant,,ENST00000297142,;	1341	68	57	SUCCESS
RABL6	55684	.	GRCh37	9	139735128	139735128	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs566292626	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	14	57	0	ENST00000311502.7:c.*154G>C			ENST00000311502				0	.	A:0.0174	.	A:0	.	C	.	protein_coding	YES	CCDS55352.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCTGGGCCC	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000360727	A:0	15/15	.	.	.	.	.	.	.	.	rs566292626	15/15	PASS	ENST00000371663	Transcript	.	A:0.0046	ENSG00000196642	24703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	RABL6_HUMAN	RABL6	HGNC	.	.	UPI0000E0C208	SNV	RABL6,missense_variant,p.Trp424Ser,ENST00000357466,;RABL6,3_prime_UTR_variant,,ENST00000371663,;RABL6,3_prime_UTR_variant,,ENST00000371675,;RABL6,3_prime_UTR_variant,,ENST00000311502,;C9orf172,upstream_gene_variant,,ENST00000436881,;RABL6,downstream_gene_variant,,ENST00000435930,;RABL6,downstream_gene_variant,,ENST00000432842,;RABL6,downstream_gene_variant,,ENST00000461992,;RABL6,downstream_gene_variant,,ENST00000466096,;RABL6,3_prime_UTR_variant,,ENST00000484471,;RABL6,3_prime_UTR_variant,,ENST00000464941,;	2622	57	39	SUCCESS
TPD52L3	89882	.	GRCh37	9	6330365	6330365	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1564106582	.	TCGA-MI-A75H-01	TCGA-MI-A75H-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	94	42	155	1	ENST00000344545.5:c.*1347A>T			ENST00000344545	NM_033516.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34986.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACACACTGCC	NONE	.	.	.	.	.	ENSP00000341677	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344545	Transcript	.	.	ENSG00000170777	23382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPD55_HUMAN	TPD52L3	HGNC	.	.	UPI0000367601	SNV	TPD52L3,3_prime_UTR_variant,,ENST00000344545,;TPD52L3,3_prime_UTR_variant,,ENST00000381428,;TPD52L3,intron_variant,,ENST00000314556,;	2017	156	136	SUCCESS
ANKRD49	54851	.	GRCh37	11	94231823	94231823	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs112974375	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	17	46	0	ENST00000302755.4:c.*125C>T			ENST00000302755				0	.	T:0.0393	.	T:0.0014	.	T	.	protein_coding	YES	CCDS8300.1	.	MUTECT|MUSE	.	ACATTCTTCCA	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000440396	T:0	3/3	.	.	.	.	.	.	.	.	rs112974375	3/3	PASS	ENST00000544612	Transcript	.	T:0.0106	ENSG00000168876	25970	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	ANR49_HUMAN	ANKRD49	HGNC	F5H227_HUMAN	.	UPI000004A09B	SNV	ANKRD49,3_prime_UTR_variant,,ENST00000544612,;ANKRD49,3_prime_UTR_variant,,ENST00000544253,;ANKRD49,3_prime_UTR_variant,,ENST00000302755,;MRE11A,upstream_gene_variant,,ENST00000393241,;ANKRD49,downstream_gene_variant,,ENST00000540349,;MRE11A,upstream_gene_variant,,ENST00000323977,;ANKRD49,downstream_gene_variant,,ENST00000541144,;MRE11A,upstream_gene_variant,,ENST00000540013,;ANKRD49,downstream_gene_variant,,ENST00000535502,;MRE11A,upstream_gene_variant,,ENST00000538923,;ANKRD49,downstream_gene_variant,,ENST00000545130,;MRE11A,upstream_gene_variant,,ENST00000536754,;MRE11A,upstream_gene_variant,,ENST00000323929,;MRE11A,upstream_gene_variant,,ENST00000407439,;ANKRD49,non_coding_transcript_exon_variant,,ENST00000538535,;MRE11A,upstream_gene_variant,,ENST00000541157,;MRE11A,upstream_gene_variant,,ENST00000536144,;ANKRD49,downstream_gene_variant,,ENST00000539883,;ANKRD49,downstream_gene_variant,,ENST00000544514,;ANKRD49,downstream_gene_variant,,ENST00000534911,;	1342	46	53	SUCCESS
RNASE10	338879	.	GRCh37	14	20979308	20979308	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	23	0	ENST00000328444.5:c.*27A>T			ENST00000328444	NM_001012975.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32035.1	.	RADIA|MUTECT|MUSE	.	TCTTCACCTTC	NONE	.	.	.	.	.	ENSP00000333358	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000328444	Transcript	.	.	ENSG00000182545	19275	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RNS10_HUMAN	RNASE10	HGNC	.	.	UPI00001986DE	SNV	RNASE10,3_prime_UTR_variant,,ENST00000430083,;RNASE10,3_prime_UTR_variant,,ENST00000328444,;	697	23	10	SUCCESS
NPAP1	23742	.	GRCh37	15	24924606	24924606	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	77	27	96	0	ENST00000329468.2:c.*121C>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTCCAGAA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	4066	96	104	SUCCESS
TTC23	64927	.	GRCh37	15	99678133	99678133	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	15	0	ENST00000394132.2:c.*82G>T			ENST00000394132	NM_001288615.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10379.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTCCATTTT	NONE	.	.	.	.	.	ENSP00000377690	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000394132	Transcript	.	.	ENSG00000103852	25730	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC23_HUMAN	TTC23	HGNC	H0YNV8_HUMAN,H0YNH7_HUMAN,H0YN45_HUMAN,H0YMN1_HUMAN,H0YM10_HUMAN,H0YKN9_HUMAN,B3KMY5_HUMAN	.	UPI00004525C9	SNV	TTC23,3_prime_UTR_variant,,ENST00000262074,;TTC23,3_prime_UTR_variant,,ENST00000394132,;TTC23,3_prime_UTR_variant,,ENST00000394135,;TTC23,3_prime_UTR_variant,,ENST00000558663,;TTC23,3_prime_UTR_variant,,ENST00000558613,;TTC23,3_prime_UTR_variant,,ENST00000394136,;SYNM,downstream_gene_variant,,ENST00000328642,;SYNM,downstream_gene_variant,,ENST00000560674,;TTC23,downstream_gene_variant,,ENST00000434594,;SYNM,downstream_gene_variant,,ENST00000336292,;TTC23,downstream_gene_variant,,ENST00000394130,;RP11-6O2.3,upstream_gene_variant,,ENST00000564527,;SYNM,downstream_gene_variant,,ENST00000558420,;SYNM,downstream_gene_variant,,ENST00000561306,;SYNM,downstream_gene_variant,,ENST00000561323,;TTC23,3_prime_UTR_variant,,ENST00000480371,;TTC23,3_prime_UTR_variant,,ENST00000459771,;TTC23,non_coding_transcript_exon_variant,,ENST00000494567,;TTC23,non_coding_transcript_exon_variant,,ENST00000490688,;	2244	15	15	SUCCESS
EMC8	10328	.	GRCh37	16	85813311	85813311	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	18	71	0	ENST00000253457.3:c.*3A>T			ENST00000253457	NM_006067.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10954.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGCCTA	NONE	.	.	.	.	.	ENSP00000253457	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000253457	Transcript	.	.	ENSG00000131148	7864	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EMC8_HUMAN	EMC8	HGNC	Q53Y03_HUMAN,M0R1B0_HUMAN	.	UPI0000000C83	SNV	EMC8,3_prime_UTR_variant,,ENST00000435200,;EMC8,3_prime_UTR_variant,,ENST00000253457,;RNU1-103P,downstream_gene_variant,,ENST00000516502,;RP11-568J23.5,upstream_gene_variant,,ENST00000602706,;EMC8,3_prime_UTR_variant,,ENST00000595980,;EMC8,non_coding_transcript_exon_variant,,ENST00000597291,;EMC8,non_coding_transcript_exon_variant,,ENST00000600807,;	881	71	47	SUCCESS
ZNF566	84924	.	GRCh37	19	36939783	36939783	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	15	32	0	ENST00000424129.2:c.*96A>T			ENST00000424129				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46061.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGTTTCTACA	NONE	.	.	.	.	.	ENSP00000394207	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000454319	Transcript	.	.	ENSG00000186017	25919	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN566_HUMAN	ZNF566	HGNC	C9J2D3_HUMAN,B4DRR6_HUMAN	.	UPI0000E046D6	SNV	ZNF566,3_prime_UTR_variant,,ENST00000392170,;ZNF566,3_prime_UTR_variant,,ENST00000434377,;ZNF566,3_prime_UTR_variant,,ENST00000424129,;ZNF566,3_prime_UTR_variant,,ENST00000454319,;ZNF566,3_prime_UTR_variant,,ENST00000493391,;ZNF566,intron_variant,,ENST00000587567,;ZNF566,downstream_gene_variant,,ENST00000452939,;ZNF566,downstream_gene_variant,,ENST00000427002,;	1491	32	39	SUCCESS
LILRB4	11006	.	GRCh37	19	55179474	55179474	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs771549369	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	44	1	ENST00000391736.1:c.*4A>T			ENST00000391736	NM_001278430.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12902.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCAGGGGG	NONE	.	.	.	.	.	ENSP00000375616	.	14/14	.	.	.	.	.	.	.	.	rs771549369	14/14	PASS	ENST00000391736	Transcript	.	.	ENSG00000186818	6608	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LIRB4_HUMAN	LILRB4	HGNC	.	.	UPI000013D889	SNV	LILRB4,3_prime_UTR_variant,,ENST00000391736,;LILRB4,3_prime_UTR_variant,,ENST00000430952,;LILRB4,3_prime_UTR_variant,,ENST00000270452,;LILRB4,3_prime_UTR_variant,,ENST00000391733,;LILRB4,3_prime_UTR_variant,,ENST00000391734,;LILRB4,downstream_gene_variant,,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000461262,;LILRB4,downstream_gene_variant,,ENST00000494796,;LILRB4,downstream_gene_variant,,ENST00000470943,;AC011515.2,upstream_gene_variant,,ENST00000441512,;	1666	45	43	SUCCESS
RBL1	5933	.	GRCh37	20	35627112	35627112	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	9	33	0	ENST00000373664.3:c.*50A>G			ENST00000373664	NM_002895.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13289.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAACTTTCTG	NONE	.	.	.	.	.	ENSP00000362768	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000373664	Transcript	.	.	ENSG00000080839	9893	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBL1_HUMAN	RBL1	HGNC	.	.	UPI000013D34E	SNV	RBL1,3_prime_UTR_variant,,ENST00000373664,;RBL1,downstream_gene_variant,,ENST00000344359,;	3324	33	27	SUCCESS
CECR2	27443	.	GRCh37	22	18020263	18020264	+	downstream_gene_variant	3'Flank	INS	-	-	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	39	15	35	0				ENST00000342247		532		0	.	.	.	.	.	G	V/VX	protein_coding	YES	.	1595-1596	INDELOCATOR*|VARSCANI*|PINDEL	.	CCATGTTTGGA	NONE	.	.	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF123	.	.	ENSP00000262608	.	13/18	.	.	.	.	.	.	.	.	.	13/18	PASS	ENST00000262608	Transcript	.	.	ENSG00000099954	1840	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CECR2_HUMAN	CECR2	HGNC	.	.	UPI0001AE62C8	insertion	CECR2,frameshift_variant,p.Trp532LeufsTer124,ENST00000400573,;CECR2,frameshift_variant,p.Trp391LeufsTer124,ENST00000400585,;CECR2,frameshift_variant,p.Trp533LeufsTer124,ENST00000262608,;CECR2,downstream_gene_variant,,ENST00000342247,;	1595-1596	35	54	SUCCESS
MTFP1	51537	.	GRCh37	22	30824670	30824670	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	17	39	0	ENST00000266263.5:c.*149G>A			ENST00000266263	NM_016498.4			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAAGGCTTCA	NONE	.	.	.	.	.	ENSP00000415178	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000439838	Transcript	.	.	ENSG00000249590	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP4-539M6.19	Clone_based_vega_gene	H7C417_HUMAN	.	UPI0001610F96	SNV	RP4-539M6.19,missense_variant,p.Ala130Thr,ENST00000439023,;MTFP1,3_prime_UTR_variant,,ENST00000407550,;MTFP1,3_prime_UTR_variant,,ENST00000355143,;MTFP1,3_prime_UTR_variant,,ENST00000266263,;RP4-539M6.19,3_prime_UTR_variant,,ENST00000439838,;SEC14L2,downstream_gene_variant,,ENST00000312932,;SEC14L2,downstream_gene_variant,,ENST00000403484,;RP4-539M6.19,3_prime_UTR_variant,,ENST00000454552,;SEC14L2,downstream_gene_variant,,ENST00000467218,;MTFP1,downstream_gene_variant,,ENST00000412752,;SEC14L2,downstream_gene_variant,,ENST00000478762,;MTFP1,downstream_gene_variant,,ENST00000489658,;	1166	39	32	SUCCESS
APOBEC3B	9582	.	GRCh37	22	39388605	39388606	+	3_prime_UTR_variant	3'UTR	INS	-	-	AAAA	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	69	10	80	0	ENST00000333467.3:c.*157_*160dup			ENST00000333467	NM_004900.4			0	.	.	.	.	.	AAAA	.	protein_coding	YES	CCDS13982.1	.	INDELOCATOR*|PINDEL	.	TTTTTTAAAAA	NONE	.	.	.	.	.	ENSP00000327459	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000333467	Transcript	.	.	ENSG00000179750	17352	5	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABC3B_HUMAN	APOBEC3B	HGNC	.	.	UPI00001318FE	insertion	APOBEC3B,3_prime_UTR_variant,,ENST00000402182,;APOBEC3B,3_prime_UTR_variant,,ENST00000333467,;APOBEC3B,downstream_gene_variant,,ENST00000407298,;APOBEC3B-AS1,intron_variant,,ENST00000513758,;APOBEC3B,3_prime_UTR_variant,,ENST00000335760,;	1349-1350	80	79	SUCCESS
TMPRSS7	344805	.	GRCh37	3	111799967	111799967	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1346854204	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	40	79	0	ENST00000452346.2:c.*36A>G			ENST00000452346				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS43129.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTTAAAAATA	NONE	.	.	.	.	.	ENSP00000411645	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000419127	Transcript	.	.	ENSG00000176040	30846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS7_HUMAN	TMPRSS7	HGNC	.	.	UPI000192A2F1	SNV	TMPRSS7,3_prime_UTR_variant,,ENST00000452346,;TMPRSS7,3_prime_UTR_variant,,ENST00000419127,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	2272	79	88	SUCCESS
EPHB3	2049	.	GRCh37	3	184299425	184299425	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	20	38	0	ENST00000330394.2:c.*15G>T			ENST00000330394	NM_004443.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3268.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACGGGGACC	NONE	.	.	.	.	.	ENSP00000332118	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000330394	Transcript	.	.	ENSG00000182580	3394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPHB3_HUMAN	EPHB3	HGNC	D3DNT9_HUMAN	.	UPI0000161C94	SNV	EPHB3,3_prime_UTR_variant,,ENST00000330394,;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,downstream_gene_variant,,ENST00000482987,;EPHB3,downstream_gene_variant,,ENST00000473079,;	3464	38	56	SUCCESS
FUT9	10690	.	GRCh37	6	96656812	96656812	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	71	196	0	ENST00000302103.5:c.*4701T>C			ENST00000302103	NM_006581.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGTAGCAT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	6107	196	121	SUCCESS
TMEM140	55281	.	GRCh37	7	134850468	134850468	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs553753728	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	47	15	49	0	ENST00000275767.3:c.*717C>T			ENST00000275767	NM_018295.4			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS5837.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTGCACACA	NONE	by1000G	.	.	T:0.001	.	ENSP00000275767	T:0	2/2	.	.	.	.	.	.	.	.	rs553753728	2/2	PASS	ENST00000275767	Transcript	.	T:0.0002	ENSG00000146859	21870	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	TM140_HUMAN	TMEM140	HGNC	.	.	UPI000045760C	SNV	TMEM140,3_prime_UTR_variant,,ENST00000275767,;C7orf49,downstream_gene_variant,,ENST00000424142,;C7orf49,downstream_gene_variant,,ENST00000430372,;C7orf49,downstream_gene_variant,,ENST00000393114,;C7orf49,downstream_gene_variant,,ENST00000483029,;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000477820,;C7orf49,downstream_gene_variant,,ENST00000472428,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;C7orf49,downstream_gene_variant,,ENST00000481410,;	1498	49	62	SUCCESS
PEG10	23089	.	GRCh37	7	94298614	94298614	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	47	1	ENST00000482108.1:c.*4768A>G			ENST00000482108	NM_001172437.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55126.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTATCCTT	NONE	.	.	.	.	.	ENSP00000417587	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000482108	Transcript	.	.	ENSG00000242265	14005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PEG10_HUMAN	PEG10	HGNC	B4DSP0_HUMAN	.	UPI0000047FA3	SNV	PEG10,3_prime_UTR_variant,,ENST00000482108,;PEG10,downstream_gene_variant,,ENST00000488574,;PEG10,non_coding_transcript_exon_variant,,ENST00000493935,;PEG10,downstream_gene_variant,,ENST00000465184,;	6225	48	52	SUCCESS
CTD-3064M3.7	0	.	GRCh37	8	142451260	142451260	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	32	11	19	0				ENST00000606664				0	.	.	.	.	.	A	.	antisense	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGATGGCCA	NONE	.	3206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000606664	Transcript	.	.	ENSG00000271959	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-3064M3.7	Clone_based_vega_gene	.	.	.	SNV	CTD-3064M3.7,downstream_gene_variant,,ENST00000606664,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,missense_variant,p.Ile1021Phe,ENST00000430863,;	.	19	44	SUCCESS
PDP1	54704	.	GRCh37	8	94935964	94935964	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-MI-A75I-01	TCGA-MI-A75I-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	82	54	68	0	ENST00000297598.4:c.*63A>T			ENST00000297598	NM_018444.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55262.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAAAAGATAC	NONE	.	.	.	.	.	ENSP00000379503	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396200	Transcript	1	.	ENSG00000164951	9279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDP1_HUMAN	PDP1	HGNC	Q6P1N1_HUMAN,E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B4DYX8_HUMAN,B3KPZ7_HUMAN	.	UPI0000D4BFBD	SNV	PDP1,3_prime_UTR_variant,,ENST00000517764,;PDP1,3_prime_UTR_variant,,ENST00000396200,;PDP1,3_prime_UTR_variant,,ENST00000520728,;PDP1,3_prime_UTR_variant,,ENST00000297598,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000523021,;	2028	68	137	SUCCESS
PLD2	5338	.	GRCh37	17	4726169	4726175	+	3_prime_UTR_variant	3'UTR	DEL	CCGTCAG	CCGTCAG	-	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	CCGTCAG	CCGTCAG	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	38	0	ENST00000263088.6:c.*10_*16del			ENST00000263088	NM_001243108.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11057.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AGGCCCCCGTCAGGGAGA	NONE	.	.	.	.	.	ENSP00000263088	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000263088	Transcript	.	.	ENSG00000129219	9068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLD2_HUMAN	PLD2	HGNC	I3L222_HUMAN,I3L1F3_HUMAN	.	UPI0000131BDE	deletion	PLD2,3_prime_UTR_variant,,ENST00000263088,;PLD2,3_prime_UTR_variant,,ENST00000572940,;PLD2,intron_variant,,ENST00000576864,;PLD2,downstream_gene_variant,,ENST00000576983,;PLD2,downstream_gene_variant,,ENST00000572127,;PLD2,downstream_gene_variant,,ENST00000575945,;PLD2,downstream_gene_variant,,ENST00000575246,;PLD2,downstream_gene_variant,,ENST00000571273,;	2943-2949	38	32	SUCCESS
KCNE1	3753	.	GRCh37	21	35821459	35821459	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	201	73	257	0	ENST00000337385.3:c.*84T>G			ENST00000337385	NM_001270403.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13636.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATCCATCACA	NONE	.	.	.	.	.	ENSP00000337255	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000337385	Transcript	.	.	ENSG00000180509	6240	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNE1_HUMAN	KCNE1	HGNC	Q5DI96_HUMAN,C7S316_HUMAN,B4E2L9_HUMAN,A7LFK4_HUMAN	.	UPI000012F141	SNV	KCNE1,3_prime_UTR_variant,,ENST00000399286,;KCNE1,3_prime_UTR_variant,,ENST00000399289,;KCNE1,3_prime_UTR_variant,,ENST00000432085,;KCNE1,3_prime_UTR_variant,,ENST00000337385,;KCNE1,downstream_gene_variant,,ENST00000416357,;KCNE1,downstream_gene_variant,,ENST00000399284,;	850	257	274	SUCCESS
CDK9	1025	.	GRCh37	9	130551826	130551826	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1330402946	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	36	57	0	ENST00000373264.4:c.*4C>T			ENST00000373264	NM_001261.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6879.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCCGGCG	NONE	.	.	.	.	.	ENSP00000362361	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373264	Transcript	.	.	ENSG00000136807	1780	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDK9_HUMAN	CDK9	HGNC	.	.	UPI000013D041	SNV	CDK9,3_prime_UTR_variant,,ENST00000373265,;CDK9,3_prime_UTR_variant,,ENST00000373264,;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,downstream_gene_variant,,ENST00000480353,;CDK9,downstream_gene_variant,,ENST00000498339,;CDK9,downstream_gene_variant,,ENST00000491521,;	1223	57	91	SUCCESS
SLITRK2	84631	.	GRCh37	X	144909486	144909486	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-MR-A520-01	TCGA-MR-A520-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	64	97	0				ENST00000370490		97		0	.	.	.	.	.	A	P	protein_coding	YES	CCDS14681.1	291	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCAGGGC	NONE	.	.	.	.	.	ENSP00000386149	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408967	Transcript	.	.	ENSG00000221870	2562	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM257_HUMAN	TMEM257	HGNC	.	.	UPI0000128753	SNV	TMEM257,synonymous_variant,p.%3D,ENST00000408967,;SLITRK2,downstream_gene_variant,,ENST00000370490,;SLITRK2,downstream_gene_variant,,ENST00000434188,;SLITRK2,downstream_gene_variant,,ENST00000428560,;SLITRK2,downstream_gene_variant,,ENST00000413937,;SLITRK2,downstream_gene_variant,,ENST00000447897,;SLITRK2,downstream_gene_variant,,ENST00000335565,;	559	97	116	SUCCESS
DHH	50846	.	GRCh37	12	49483528	49483528	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	67	4	83	0	ENST00000266991.2:c.*114A>G			ENST00000266991	NM_021044.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8779.1	.	MUTECT|MUSE	.	CTCCCTCCCCC	NONE	.	.	.	.	.	ENSP00000266991	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000266991	Transcript	.	.	ENSG00000139549	2865	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHH_HUMAN	DHH	HGNC	F6KSZ4_HUMAN	.	UPI0000035884	SNV	DHH,3_prime_UTR_variant,,ENST00000266991,;RP11-386G11.8,upstream_gene_variant,,ENST00000548030,;RP11-386G11.8,upstream_gene_variant,,ENST00000553174,;	1612	83	71	SUCCESS
ITGA1	3672	.	GRCh37	5	52248303	52248303	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	323	42	400	0	ENST00000282588.6:c.*22A>G			ENST00000282588	NM_181501.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3955.1	.	RADIA|MUTECT|MUSE	.	AAATAATAACA	NONE	.	.	.	.	.	ENSP00000282588	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000282588	Transcript	.	.	ENSG00000213949	6134	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITA1_HUMAN	ITGA1	HGNC	.	.	UPI00001A95E8	SNV	ITGA1,3_prime_UTR_variant,,ENST00000282588,;CTD-2175A23.1,intron_variant,,ENST00000505701,;CTD-2175A23.1,intron_variant,,ENST00000503559,;ITGA1,non_coding_transcript_exon_variant,,ENST00000506275,;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	4020	400	365	SUCCESS
GPR34	2857	.	GRCh37	X	41556128	41556128	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1355481462	.	TCGA-MR-A8JO-01	TCGA-MR-A8JO-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	9	299	0	ENST00000378138.5:c.*96G>A			ENST00000378138				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14258.1	.	MUTECT|MUSE	.	ACTCAGATCTC	NONE	.	.	.	.	.	ENSP00000367384	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000378142	Transcript	.	.	ENSG00000171659	4490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR34_HUMAN	GPR34	HGNC	Q5VT14_HUMAN,Q3SAH0_HUMAN	.	UPI000005044D	SNV	GPR34,3_prime_UTR_variant,,ENST00000378138,;GPR34,3_prime_UTR_variant,,ENST00000378142,;CASK,intron_variant,,ENST00000421587,;CASK,intron_variant,,ENST00000442742,;CASK,intron_variant,,ENST00000378166,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378154,;	1526	299	246	SUCCESS
RAG1	5896	.	GRCh37	11	36599128	36599128	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	15	79	0	ENST00000299440.5:c.*1142T>C			ENST00000299440	NM_000448.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7902.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAGTTAACA	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	4386	79	73	SUCCESS
MMP14	4323	.	GRCh37	14	23315339	23315339	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs142923202	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	26	0	ENST00000311852.6:c.*91G>T			ENST00000311852	NM_004995.3			0	.	A:0.0113	.	A:0	.	T	.	protein_coding	YES	CCDS9577.1	.	RADIA|MUTECT|MUSE	.	CCATCGTCCCG	NONE	byFrequency|by1000G	.	.	A:0.001	.	ENSP00000308208	A:0	10/10	.	.	.	.	.	.	.	.	rs142923202	10/10	PASS	ENST00000311852	Transcript	.	A:0.0032	ENSG00000157227	7160	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,3_prime_UTR_variant,,ENST00000311852,;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,intron_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	2101	26	18	SUCCESS
INSM2	84684	.	GRCh37	14	36005328	36005328	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	76	1	ENST00000307169.3:c.*169T>C			ENST00000307169	NM_032594.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9657.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATGTAAT	NONE	.	.	.	.	.	ENSP00000306523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307169	Transcript	.	.	ENSG00000168348	17539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM2_HUMAN	INSM2	HGNC	.	.	UPI000013EBD6	SNV	INSM2,3_prime_UTR_variant,,ENST00000307169,;RALGAPA1,downstream_gene_variant,,ENST00000389698,;RALGAPA1,downstream_gene_variant,,ENST00000382366,;RALGAPA1,downstream_gene_variant,,ENST00000554573,;RALGAPA1,downstream_gene_variant,,ENST00000554259,;RALGAPA1,downstream_gene_variant,,ENST00000258840,;RALGAPA1,downstream_gene_variant,,ENST00000307138,;RALGAPA1,downstream_gene_variant,,ENST00000556106,;	2081	77	46	SUCCESS
GPRC5B	51704	.	GRCh37	16	19871744	19871744	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	43	0	ENST00000300571.2:c.*78C>A			ENST00000300571	NM_016235.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10581.1	.	MUTECT|MUSE	.	TTACCGATTTC	NONE	.	.	.	.	.	ENSP00000300571	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000300571	Transcript	.	.	ENSG00000167191	13308	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPC5B_HUMAN	GPRC5B	HGNC	H3BT93_HUMAN,H3BT47_HUMAN,H3BSJ1_HUMAN,H3BQV9_HUMAN,H3BN33_HUMAN	.	UPI0000032747	SNV	GPRC5B,3_prime_UTR_variant,,ENST00000300571,;GPRC5B,3_prime_UTR_variant,,ENST00000537135,;GPRC5B,3_prime_UTR_variant,,ENST00000569847,;GPRC5B,3_prime_UTR_variant,,ENST00000569479,;GPRC5B,intron_variant,,ENST00000535671,;IQCK,downstream_gene_variant,,ENST00000541926,;IQCK,downstream_gene_variant,,ENST00000320394,;IQCK,downstream_gene_variant,,ENST00000433597,;IQCK,downstream_gene_variant,,ENST00000568061,;IQCK,downstream_gene_variant,,ENST00000562762,;GPRC5B,upstream_gene_variant,,ENST00000569102,;GPRC5B,non_coding_transcript_exon_variant,,ENST00000562348,;IQCK,downstream_gene_variant,,ENST00000564955,;IQCK,downstream_gene_variant,,ENST00000308214,;IQCK,downstream_gene_variant,,ENST00000568300,;IQCK,downstream_gene_variant,,ENST00000561839,;	1482	43	20	SUCCESS
PSG8	440533	.	GRCh37	19	43258392	43258392	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	34	0	ENST00000306511.4:c.*55C>G			ENST00000306511	NM_182707.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33037.1	.	MUTECT|MUSE	.	ACGCAGGCTGG	NONE	.	.	.	.	.	ENSP00000305005	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000306511	Transcript	.	.	ENSG00000124467	9525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSG8_HUMAN	PSG8	HGNC	.	.	UPI0000071471	SNV	PSG8,3_prime_UTR_variant,,ENST00000306511,;PSG8,intron_variant,,ENST00000404209,;PSG8,intron_variant,,ENST00000406636,;PSG8,intron_variant,,ENST00000401467,;PSG8,intron_variant,,ENST00000600709,;PSG8,downstream_gene_variant,,ENST00000469260,;PSG8,intron_variant,,ENST00000466163,;PSG8,downstream_gene_variant,,ENST00000478387,;	1434	34	28	SUCCESS
KLK11	11012	.	GRCh37	19	51525694	51525694	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	23	0	ENST00000594768.1:c.*107C>G			ENST00000594768	NM_144947.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12818.1	.	MUTECT|MUSE	.	CCAAAGAATGT	NONE	.	.	.	.	.	ENSP00000473047	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000594768	Transcript	.	.	ENSG00000167757	6359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK11_HUMAN	KLK11	HGNC	M0QZV0_HUMAN,M0QZI8_HUMAN	.	UPI000002ACDC	SNV	KLK11,3_prime_UTR_variant,,ENST00000594768,;KLK11,3_prime_UTR_variant,,ENST00000319720,;KLK11,3_prime_UTR_variant,,ENST00000453757,;KLK11,3_prime_UTR_variant,,ENST00000600362,;KLK11,3_prime_UTR_variant,,ENST00000593681,;KLK10,upstream_gene_variant,,ENST00000391805,;KLK10,upstream_gene_variant,,ENST00000599077,;KLK11,downstream_gene_variant,,ENST00000601671,;KLK10,upstream_gene_variant,,ENST00000309958,;KLK11,downstream_gene_variant,,ENST00000598799,;KLK11,downstream_gene_variant,,ENST00000391804,;KLK10,upstream_gene_variant,,ENST00000358789,;KLK11,downstream_gene_variant,,ENST00000594458,;KLK11,3_prime_UTR_variant,,ENST00000319756,;KLK11,downstream_gene_variant,,ENST00000594827,;KLK10,upstream_gene_variant,,ENST00000601467,;	1142	23	22	SUCCESS
FAM217B	63939	.	GRCh37	20	58520199	58520199	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	52	0	ENST00000358293.3:c.*49A>T			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13484.1	.	MUTECT|MUSE|VARSCANS	.	GTTAGAGCGCT	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;PPP1R3D,upstream_gene_variant,,ENST00000370996,;FAM217B,downstream_gene_variant,,ENST00000469084,;	1616	52	59	SUCCESS
PPP1R1C	151242	.	GRCh37	2	182982048	182982048	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	59	167	0	ENST00000409137.3:c.*6+20C>T			ENST00000409137	NM_001261425.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58740.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCTTCTTGGA	NONE	.	.	.	.	.	ENSP00000280295	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000280295	Transcript	.	.	ENSG00000150722	14940	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR1C_HUMAN	PPP1R1C	HGNC	Q53SA3_HUMAN	.	UPI000006D8CA	SNV	PPP1R1C,3_prime_UTR_variant,,ENST00000452904,;PPP1R1C,3_prime_UTR_variant,,ENST00000409702,;PPP1R1C,intron_variant,,ENST00000409137,;PPP1R1C,intron_variant,,ENST00000280295,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000494189,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000479855,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000486067,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000495820,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000490645,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000465612,;PPP1R1C,intron_variant,,ENST00000475249,;PPP1R1C,intron_variant,,ENST00000464264,;	.	167	176	SUCCESS
CD8B	926	.	GRCh37	2	87069310	87069323	+	3_prime_UTR_variant	3'UTR	DEL	CAGCTTCAGCAGCC	CAGCTTCAGCAGCC	-	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	CAGCTTCAGCAGCC	CAGCTTCAGCAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	113	0	ENST00000390655.6:c.*107_*120del			ENST00000390655	NM_004931.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1995.1	.	INDELOCATOR|VARSCANI	.	AGCAGGCAGCTTCAGCAGCCATTGA	NONE	.	.	.	.	.	ENSP00000331172	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000331469	Transcript	.	.	ENSG00000172116	1707	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD8B_HUMAN	CD8B	HGNC	Q8TD28_HUMAN,B4E0F8_HUMAN	.	UPI0000160A12	deletion	CD8B,3_prime_UTR_variant,,ENST00000390655,;CD8B,intron_variant,,ENST00000349455,;CD8B,intron_variant,,ENST00000393759,;CD8B,intron_variant,,ENST00000393761,;CD8B,intron_variant,,ENST00000331469,;CD8B,downstream_gene_variant,,ENST00000431506,;	.	113	88	SUCCESS
FUT9	10690	.	GRCh37	6	96654738	96654738	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	85	45	192	0	ENST00000302103.5:c.*2627C>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGAACTGAAA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	4033	192	130	SUCCESS
ASB10	136371	.	GRCh37	7	150884322	150884322	+	upstream_gene_variant	5'Flank	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	55	79	1				ENST00000420175				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47750.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTGTCCCACG	NONE	.	80	.	.	.	ENSP00000391137	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Asp11His,ENST00000434669,;ASB10,missense_variant,p.Asp11His,ENST00000422024,;ASB10,5_prime_UTR_variant,,ENST00000275838,;ASB10,intron_variant,,ENST00000377867,;ASB10,upstream_gene_variant,,ENST00000420175,;ASB10,intron_variant,,ENST00000415615,;IQCA1P1,downstream_gene_variant,,ENST00000453127,;	.	80	106	SUCCESS
FUT7	2529	.	GRCh37	9	139925144	139925144	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs759508636	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	66	0	ENST00000314412.6:c.*18A>T			ENST00000314412	NM_004479.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7022.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCTCCCCC	NONE	byFrequency	.	.	.	.	ENSP00000318142	.	2/2	.	.	.	.	.	.	.	.	rs759508636	2/2	PASS	ENST00000314412	Transcript	.	.	ENSG00000180549	4018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT7_HUMAN	FUT7	HGNC	.	.	UPI000012ADAF	SNV	FUT7,3_prime_UTR_variant,,ENST00000314412,;C9orf139,intron_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	2066	66	76	SUCCESS
P2RY8	286530	.	GRCh37	X	1584369	1584369	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1454193280	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	40	0	ENST00000381297.4:c.*3C>T			ENST00000381297	NM_178129.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14115.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCGGGACTCA	NONE	.	.	.	.	.	ENSP00000370697	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381297	Transcript	.	.	ENSG00000182162	15524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY8_HUMAN	P2RY8	HGNC	.	.	UPI000000DA6D	SNV	P2RY8,3_prime_UTR_variant,,ENST00000381297,;P2RY8,downstream_gene_variant,,ENST00000460672,;	1294	40	41	SUCCESS
RAG1	5896	.	GRCh37	11	36599128	36599128	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	59	15	100	1	ENST00000299440.5:c.*1142T>C			ENST00000299440	NM_000448.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7902.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	AAGAGTTAACA	NONE	.	.	.	.	.	ENSP00000299440	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000299440	Transcript	.	.	ENSG00000166349	9831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	RAG1_HUMAN	RAG1	HGNC	.	.	UPI000013E5A0	SNV	RAG1,3_prime_UTR_variant,,ENST00000299440,;RAG2,intron_variant,,ENST00000524423,;RAG1,intron_variant,,ENST00000534663,;	4386	101	74	SUCCESS
INSM2	84684	.	GRCh37	14	36005328	36005328	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	63	0	ENST00000307169.3:c.*169T>C			ENST00000307169	NM_032594.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9657.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAAATGTAAT	NONE	.	.	.	.	.	ENSP00000306523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	nonpreferredpair	ENST00000307169	Transcript	.	.	ENSG00000168348	17539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM2_HUMAN	INSM2	HGNC	.	.	UPI000013EBD6	SNV	INSM2,3_prime_UTR_variant,,ENST00000307169,;RALGAPA1,downstream_gene_variant,,ENST00000389698,;RALGAPA1,downstream_gene_variant,,ENST00000382366,;RALGAPA1,downstream_gene_variant,,ENST00000554573,;RALGAPA1,downstream_gene_variant,,ENST00000554259,;RALGAPA1,downstream_gene_variant,,ENST00000258840,;RALGAPA1,downstream_gene_variant,,ENST00000307138,;RALGAPA1,downstream_gene_variant,,ENST00000556106,;	2081	63	46	SUCCESS
GPRC5B	51704	.	GRCh37	16	19871744	19871744	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	8	40	0	ENST00000300571.2:c.*78C>A			ENST00000300571	NM_016235.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10581.1	.	MUTECT|MUSE	.	TTACCGATTTC	NONE	.	.	.	.	.	ENSP00000300571	.	4/4	.	.	.	.	.	.	.	.	.	4/4	nonpreferredpair	ENST00000300571	Transcript	.	.	ENSG00000167191	13308	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPC5B_HUMAN	GPRC5B	HGNC	H3BT93_HUMAN,H3BT47_HUMAN,H3BSJ1_HUMAN,H3BQV9_HUMAN,H3BN33_HUMAN	.	UPI0000032747	SNV	GPRC5B,3_prime_UTR_variant,,ENST00000300571,;GPRC5B,3_prime_UTR_variant,,ENST00000537135,;GPRC5B,3_prime_UTR_variant,,ENST00000569847,;GPRC5B,3_prime_UTR_variant,,ENST00000569479,;GPRC5B,intron_variant,,ENST00000535671,;IQCK,downstream_gene_variant,,ENST00000541926,;IQCK,downstream_gene_variant,,ENST00000320394,;IQCK,downstream_gene_variant,,ENST00000433597,;IQCK,downstream_gene_variant,,ENST00000568061,;IQCK,downstream_gene_variant,,ENST00000562762,;GPRC5B,upstream_gene_variant,,ENST00000569102,;GPRC5B,non_coding_transcript_exon_variant,,ENST00000562348,;IQCK,downstream_gene_variant,,ENST00000564955,;IQCK,downstream_gene_variant,,ENST00000308214,;IQCK,downstream_gene_variant,,ENST00000568300,;IQCK,downstream_gene_variant,,ENST00000561839,;	1482	40	20	SUCCESS
PSG8	440533	.	GRCh37	19	43258392	43258392	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	3	37	0	ENST00000306511.4:c.*55C>G			ENST00000306511	NM_182707.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33037.1	.	MUTECT|MUSE	.	ACGCAGGCTGG	NONE	.	.	.	.	.	ENSP00000305005	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000306511	Transcript	.	.	ENSG00000124467	9525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSG8_HUMAN	PSG8	HGNC	.	.	UPI0000071471	SNV	PSG8,3_prime_UTR_variant,,ENST00000306511,;PSG8,intron_variant,,ENST00000404209,;PSG8,intron_variant,,ENST00000406636,;PSG8,intron_variant,,ENST00000401467,;PSG8,intron_variant,,ENST00000600709,;PSG8,downstream_gene_variant,,ENST00000469260,;PSG8,intron_variant,,ENST00000466163,;PSG8,downstream_gene_variant,,ENST00000478387,;	1434	37	28	SUCCESS
KLK11	11012	.	GRCh37	19	51525694	51525694	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	36	0	ENST00000594768.1:c.*107C>G			ENST00000594768	NM_144947.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12818.1	.	MUTECT|MUSE	.	CCAAAGAATGT	NONE	.	.	.	.	.	ENSP00000473047	.	6/6	.	.	.	.	.	.	.	.	.	6/6	nonpreferredpair	ENST00000594768	Transcript	.	.	ENSG00000167757	6359	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KLK11_HUMAN	KLK11	HGNC	M0QZV0_HUMAN,M0QZI8_HUMAN	.	UPI000002ACDC	SNV	KLK11,3_prime_UTR_variant,,ENST00000594768,;KLK11,3_prime_UTR_variant,,ENST00000319720,;KLK11,3_prime_UTR_variant,,ENST00000453757,;KLK11,3_prime_UTR_variant,,ENST00000600362,;KLK11,3_prime_UTR_variant,,ENST00000593681,;KLK10,upstream_gene_variant,,ENST00000391805,;KLK10,upstream_gene_variant,,ENST00000599077,;KLK11,downstream_gene_variant,,ENST00000601671,;KLK10,upstream_gene_variant,,ENST00000309958,;KLK11,downstream_gene_variant,,ENST00000598799,;KLK11,downstream_gene_variant,,ENST00000391804,;KLK10,upstream_gene_variant,,ENST00000358789,;KLK11,downstream_gene_variant,,ENST00000594458,;KLK11,3_prime_UTR_variant,,ENST00000319756,;KLK11,downstream_gene_variant,,ENST00000594827,;KLK10,upstream_gene_variant,,ENST00000601467,;	1142	36	22	SUCCESS
FAM217B	63939	.	GRCh37	20	58520199	58520199	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	5	82	0	ENST00000358293.3:c.*49A>T			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13484.1	.	MUTECT|MUSE|VARSCANS	.	GTTAGAGCGCT	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	nonpreferredpair	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;PPP1R3D,upstream_gene_variant,,ENST00000370996,;FAM217B,downstream_gene_variant,,ENST00000469084,;	1616	82	59	SUCCESS
PPP1R1C	151242	.	GRCh37	2	182982048	182982048	+	intron_variant	Intron	SNP	C	C	T	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	117	59	209	1	ENST00000409137.3:c.*6+20C>T			ENST00000409137	NM_001261425.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS58740.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTCTTGGA	NONE	.	.	.	.	.	ENSP00000280295	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000280295	Transcript	.	.	ENSG00000150722	14940	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPR1C_HUMAN	PPP1R1C	HGNC	Q53SA3_HUMAN	.	UPI000006D8CA	SNV	PPP1R1C,3_prime_UTR_variant,,ENST00000452904,;PPP1R1C,3_prime_UTR_variant,,ENST00000409702,;PPP1R1C,intron_variant,,ENST00000409137,;PPP1R1C,intron_variant,,ENST00000280295,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000494189,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000479855,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000486067,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000495820,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000490645,;PPP1R1C,non_coding_transcript_exon_variant,,ENST00000465612,;PPP1R1C,intron_variant,,ENST00000475249,;PPP1R1C,intron_variant,,ENST00000464264,;	.	210	176	SUCCESS
CD8B	926	.	GRCh37	2	87069310	87069323	+	3_prime_UTR_variant	3'UTR	DEL	CAGCTTCAGCAGCC	CAGCTTCAGCAGCC	-	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	CAGCTTCAGCAGCC	CAGCTTCAGCAGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	75	13	108	0	ENST00000390655.6:c.*107_*120del			ENST00000390655	NM_004931.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS1995.1	.	INDELOCATOR|VARSCANI	.	AGCAGGCAGCTTCAGCAGCCATTGA	NONE	.	.	.	.	.	ENSP00000331172	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000331469	Transcript	.	.	ENSG00000172116	1707	.	.	MODIFIER	5/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD8B_HUMAN	CD8B	HGNC	Q8TD28_HUMAN,B4E0F8_HUMAN	.	UPI0000160A12	deletion	CD8B,3_prime_UTR_variant,,ENST00000390655,;CD8B,intron_variant,,ENST00000349455,;CD8B,intron_variant,,ENST00000393759,;CD8B,intron_variant,,ENST00000393761,;CD8B,intron_variant,,ENST00000331469,;CD8B,downstream_gene_variant,,ENST00000431506,;	.	108	88	SUCCESS
FUT9	10690	.	GRCh37	6	96654738	96654738	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	83	44	208	2	ENST00000302103.5:c.*2627C>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	RADIA|VARSCANS	.	AAGAACTGAAA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	nonpreferredpair	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	4033	210	127	SUCCESS
ASB10	136371	.	GRCh37	7	150884322	150884322	+	upstream_gene_variant	5'Flank	SNP	C	C	G	novel	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	55	62	0				ENST00000420175				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47750.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTCCCACG	NONE	.	80	.	.	.	ENSP00000391137	.	.	.	.	.	.	.	.	.	.	.	.	nonpreferredpair	ENST00000420175	Transcript	.	.	ENSG00000146926	17185	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ASB10_HUMAN	ASB10	HGNC	.	.	UPI000020F32F	SNV	ASB10,missense_variant,p.Asp11His,ENST00000434669,;ASB10,missense_variant,p.Asp11His,ENST00000422024,;ASB10,5_prime_UTR_variant,,ENST00000275838,;ASB10,intron_variant,,ENST00000377867,;ASB10,upstream_gene_variant,,ENST00000420175,;ASB10,intron_variant,,ENST00000415615,;IQCA1P1,downstream_gene_variant,,ENST00000453127,;	.	62	106	SUCCESS
FUT7	2529	.	GRCh37	9	139925144	139925144	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs759508636	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	49	27	72	0	ENST00000314412.6:c.*18A>T			ENST00000314412	NM_004479.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7022.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCACCTCCCCC	NONE	byFrequency	.	.	.	.	ENSP00000318142	.	2/2	.	.	.	.	.	.	.	.	rs759508636	2/2	nonpreferredpair	ENST00000314412	Transcript	.	.	ENSG00000180549	4018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT7_HUMAN	FUT7	HGNC	.	.	UPI000012ADAF	SNV	FUT7,3_prime_UTR_variant,,ENST00000314412,;C9orf139,intron_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	2066	72	76	SUCCESS
P2RY8	286530	.	GRCh37	X	1584369	1584369	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1454193280	.	TCGA-NI-A4U2-01	TCGA-NI-A4U2-11	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	11	21	0	ENST00000381297.4:c.*3C>T			ENST00000381297	NM_178129.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14115.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCGGGACTCA	NONE	.	.	.	.	.	ENSP00000370697	.	2/2	.	.	.	.	.	.	.	.	.	2/2	nonpreferredpair	ENST00000381297	Transcript	.	.	ENSG00000182162	15524	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY8_HUMAN	P2RY8	HGNC	.	.	UPI000000DA6D	SNV	P2RY8,3_prime_UTR_variant,,ENST00000381297,;P2RY8,downstream_gene_variant,,ENST00000460672,;	1294	21	41	SUCCESS
NMT2	9397	.	GRCh37	10	15151112	15151114	+	3_prime_UTR_variant	3'UTR	DEL	TTC	TTC	-	rs1313491574	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	TTC	TTC	.	.	.	.	.	.	.	.	.	.	.	.	.	37	5	63	0	ENST00000378165.4:c.*80_*82del			ENST00000378165	NM_004808.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS7109.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTTTATTCTTCTT	NONE	.	.	.	.	.	ENSP00000367407	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000378165	Transcript	.	.	ENSG00000152465	7858	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NMT2_HUMAN	NMT2	HGNC	B4DXS1_HUMAN	.	UPI0000130278	deletion	NMT2,3_prime_UTR_variant,,ENST00000378165,;NMT2,3_prime_UTR_variant,,ENST00000540259,;NMT2,3_prime_UTR_variant,,ENST00000535341,;NMT2,3_prime_UTR_variant,,ENST00000378150,;RPP38,downstream_gene_variant,,ENST00000378203,;RPP38,downstream_gene_variant,,ENST00000378202,;RPP38,downstream_gene_variant,,ENST00000378197,;RPP38,downstream_gene_variant,,ENST00000378201,;NMT2,intron_variant,,ENST00000486786,;RPP38,intron_variant,,ENST00000451677,;NMT2,intron_variant,,ENST00000466201,;	1658-1660	63	42	SUCCESS
C12orf56	115749	.	GRCh37	12	64660942	64660942	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	42	32	79	0	ENST00000543942.2:c.*21G>A			ENST00000543942	NM_001170633.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44935.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTAACATTGC	NONE	.	.	.	.	.	ENSP00000329698	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000333722	Transcript	.	.	ENSG00000185306	26967	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CL056_HUMAN	C12orf56	HGNC	.	.	UPI00001D7985	SNV	C12orf56,3_prime_UTR_variant,,ENST00000543942,;C12orf56,3_prime_UTR_variant,,ENST00000333722,;C12orf56,non_coding_transcript_exon_variant,,ENST00000536975,;C12orf56,non_coding_transcript_exon_variant,,ENST00000535515,;C12orf56,non_coding_transcript_exon_variant,,ENST00000542397,;RPS11P6,intron_variant,,ENST00000535684,;C12orf56,downstream_gene_variant,,ENST00000541802,;RP11-290I21.2,downstream_gene_variant,,ENST00000536546,;	1536	79	75	SUCCESS
C12orf56	115749	.	GRCh37	12	64660947	64660947	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs555956248	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	23	83	0	ENST00000543942.2:c.*16G>A			ENST00000543942	NM_001170633.1			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS44935.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGCGTACA	NONE	by1000G	.	.	T:0	.	ENSP00000329698	T:0	11/11	.	.	.	.	.	.	.	.	rs555956248	11/11	PASS	ENST00000333722	Transcript	.	T:0.0002	ENSG00000185306	26967	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	CL056_HUMAN	C12orf56	HGNC	.	.	UPI00001D7985	SNV	C12orf56,3_prime_UTR_variant,,ENST00000543942,;C12orf56,3_prime_UTR_variant,,ENST00000333722,;C12orf56,non_coding_transcript_exon_variant,,ENST00000536975,;C12orf56,non_coding_transcript_exon_variant,,ENST00000535515,;C12orf56,non_coding_transcript_exon_variant,,ENST00000542397,;RPS11P6,intron_variant,,ENST00000535684,;C12orf56,downstream_gene_variant,,ENST00000541802,;RP11-290I21.2,downstream_gene_variant,,ENST00000536546,;	1531	83	76	SUCCESS
KCNJ2	3759	.	GRCh37	17	68173684	68173684	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	32	74	1	ENST00000243457.3:c.*1220C>T			ENST00000243457	NM_000891.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11688.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GACATCACCAG	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	2887	75	69	SUCCESS
FCHO1	23149	.	GRCh37	19	17899338	17899338	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	18	26	0	ENST00000252771.7:c.*223T>C			ENST00000252771				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS59365.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACACTTTATT	NONE	.	.	.	.	.	ENSP00000473001	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000594202	Transcript	.	.	ENSG00000130475	29002	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FCHO1_HUMAN	FCHO1	HGNC	M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN	.	UPI000059D6B0	SNV	FCHO1,3_prime_UTR_variant,,ENST00000596536,;FCHO1,3_prime_UTR_variant,,ENST00000600676,;FCHO1,3_prime_UTR_variant,,ENST00000389133,;FCHO1,3_prime_UTR_variant,,ENST00000252771,;FCHO1,3_prime_UTR_variant,,ENST00000594202,;FCHO1,3_prime_UTR_variant,,ENST00000539407,;FCHO1,3_prime_UTR_variant,,ENST00000597512,;FCHO1,3_prime_UTR_variant,,ENST00000596951,;FCHO1,downstream_gene_variant,,ENST00000595033,;FCHO1,downstream_gene_variant,,ENST00000595594,;	3186	26	45	SUCCESS
LCE2C	353140	.	GRCh37	1	152648972	152648972	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	79	34	118	0	ENST00000368783.1:c.*148A>G			ENST00000368783	NM_178429.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1019.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTGATGTAA	NONE	.	.	.	.	.	ENSP00000357772	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368783	Transcript	.	.	ENSG00000187180	29460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LCE2C_HUMAN	LCE2C	HGNC	.	.	UPI00001927D6	SNV	LCE2C,3_prime_UTR_variant,,ENST00000368783,;LCE2B,intron_variant,,ENST00000417924,;	536	118	113	SUCCESS
DNAJC6	9829	.	GRCh37	1	65878836	65878836	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	23	0	ENST00000395325.3:c.*128C>A			ENST00000395325	NM_014787.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58004.1	.	MUTECT|MUSE	.	TTACTCATGAA	NONE	.	.	.	.	.	ENSP00000360108	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000371069	Transcript	.	.	ENSG00000116675	15469	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	AUXI_HUMAN	DNAJC6	HGNC	.	.	UPI000022AE8A	SNV	DNAJC6,3_prime_UTR_variant,,ENST00000371069,;DNAJC6,3_prime_UTR_variant,,ENST00000395325,;DNAJC6,3_prime_UTR_variant,,ENST00000263441,;RNU2-15P,upstream_gene_variant,,ENST00000410692,;	3242	23	14	SUCCESS
RHOQ	23433	.	GRCh37	2	46808791	46808791	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	62	22	126	0	ENST00000238738.4:c.*569G>C			ENST00000238738	NM_012249.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33191.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAAGTGTAA	NONE	.	.	.	.	.	ENSP00000238738	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000238738	Transcript	.	.	ENSG00000119729	17736	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHOQ_HUMAN	RHOQ	HGNC	E5RFZ3_HUMAN	.	UPI0000073EEC	SNV	RHOQ,3_prime_UTR_variant,,ENST00000238738,;PIGF,intron_variant,,ENST00000281382,;PIGF,intron_variant,,ENST00000306465,;RHOQ,downstream_gene_variant,,ENST00000482449,;RP11-417F21.1,upstream_gene_variant,,ENST00000506009,;PIGF,intron_variant,,ENST00000482786,;PIGF,intron_variant,,ENST00000412717,;PIGF,intron_variant,,ENST00000420164,;RHOQ,downstream_gene_variant,,ENST00000432183,;RHOQ,downstream_gene_variant,,ENST00000473428,;RHOQ,downstream_gene_variant,,ENST00000489471,;RHOQ,downstream_gene_variant,,ENST00000489448,;RHOQ,downstream_gene_variant,,ENST00000494370,;	1506	126	84	SUCCESS
SPON2	10417	.	GRCh37	4	1161163	1161164	+	3_prime_UTR_variant	3'UTR	INS	-	-	CCCC	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	33	0	ENST00000290902.5:c.*93_*96dup			ENST00000290902	NM_012445.3			0	.	.	.	.	.	CCCC	.	protein_coding	YES	CCDS3347.1	.	VARSCANI*|PINDEL	.	GCGAAACCCCC	NONE	.	.	.	.	.	ENSP00000290902	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000290902	Transcript	.	.	ENSG00000159674	11253	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPON2_HUMAN	SPON2	HGNC	D6RIH5_HUMAN,D6REX2_HUMAN,D6RBY3_HUMAN,D6RB12_HUMAN	.	UPI000004F20E	insertion	SPON2,3_prime_UTR_variant,,ENST00000290902,;SPON2,3_prime_UTR_variant,,ENST00000431380,;SPON2,downstream_gene_variant,,ENST00000511679,;SPON2,downstream_gene_variant,,ENST00000502483,;SPON2,downstream_gene_variant,,ENST00000503765,;SPON2,downstream_gene_variant,,ENST00000509233,;SPON2,downstream_gene_variant,,ENST00000514490,;SPON2,downstream_gene_variant,,ENST00000511672,;SPON2,downstream_gene_variant,,ENST00000515004,;RP11-20I20.4,upstream_gene_variant,,ENST00000609548,;SPON2,downstream_gene_variant,,ENST00000509697,;SPON2,downstream_gene_variant,,ENST00000512888,;SPON2,downstream_gene_variant,,ENST00000512150,;SPON2,downstream_gene_variant,,ENST00000507466,;SPON2,downstream_gene_variant,,ENST00000504909,;	1425-1426	33	21	SUCCESS
ZC3HAV1L	92092	.	GRCh37	7	138711098	138711098	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	10	0	ENST00000275766.1:c.*192G>A			ENST00000275766	NM_080660.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5850.1	.	MUTECT|MUSE	.	GAGCTCCATCT	NONE	.	.	.	.	.	ENSP00000275766	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000275766	Transcript	.	.	ENSG00000146858	22423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZCCHL_HUMAN	ZC3HAV1L	HGNC	.	.	UPI000020FBA9	SNV	ZC3HAV1L,3_prime_UTR_variant,,ENST00000275766,;	1107	10	10	SUCCESS
POM121L12	285877	.	GRCh37	7	53104605	53104605	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	4	34	0	ENST00000408890.4:c.*350A>T			ENST00000408890	NM_182595.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43584.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAAAACATT	NONE	.	.	.	.	.	ENSP00000386133	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408890	Transcript	.	.	ENSG00000221900	25369	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P1L12_HUMAN	POM121L12	HGNC	.	.	UPI00001B6540	SNV	POM121L12,3_prime_UTR_variant,,ENST00000408890,;	1257	34	28	SUCCESS
VCX	26609	.	GRCh37	X	7812114	7812114	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	70	44	132	0	ENST00000381059.3:c.*57A>G			ENST00000381059	NM_013452.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14128.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCAGACCT	NONE	.	.	.	.	.	ENSP00000370447	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381059	Transcript	.	.	ENSG00000182583	12667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VCX1_HUMAN	VCX	HGNC	.	.	UPI0000138291	SNV	VCX,3_prime_UTR_variant,,ENST00000381059,;VCX,downstream_gene_variant,,ENST00000341408,;	897	132	115	SUCCESS
VCX3B	425054	.	GRCh37	X	8434481	8434481	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-NI-A8LF-01	TCGA-NI-A8LF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	338	24	465	0	ENST00000381032.1:c.*57A>G			ENST00000381032	NM_001001888.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS48077.2	.	MUTECT|MUSE	.	CCGCCAGACCT	NONE	.	.	.	.	.	ENSP00000370420	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000381032	Transcript	.	.	ENSG00000205642	31838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	VCX3B	HGNC	C9JS46_HUMAN	.	UPI000057A469	SNV	VCX3B,3_prime_UTR_variant,,ENST00000381032,;VCX3B,3_prime_UTR_variant,,ENST00000381029,;VCX3B,3_prime_UTR_variant,,ENST00000453306,;VCX3B,3_prime_UTR_variant,,ENST00000440654,;VCX3B,downstream_gene_variant,,ENST00000444481,;	1105	465	363	SUCCESS
E2F7	144455	.	GRCh37	12	77417724	77417724	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	17	42	0	ENST00000322886.7:c.*71A>G			ENST00000322886	NM_203394.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9016.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGGTTTGCA	NONE	.	.	.	.	.	ENSP00000323246	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000322886	Transcript	.	.	ENSG00000165891	23820	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2F7_HUMAN	E2F7	HGNC	F8VXV5_HUMAN,F8VSE7_HUMAN	.	UPI00001B64A1	SNV	E2F7,3_prime_UTR_variant,,ENST00000416496,;E2F7,3_prime_UTR_variant,,ENST00000322886,;E2F7,downstream_gene_variant,,ENST00000550669,;	3043	42	58	SUCCESS
KCNJ2	3759	.	GRCh37	17	68174203	68174203	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	23	82	0	ENST00000243457.3:c.*1739T>G			ENST00000243457	NM_000891.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11688.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CCTATTTGTGA	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	3406	82	109	SUCCESS
TRPM2	7226	.	GRCh37	21	45861740	45861740	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs199623936	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	22	0	ENST00000300482.5:c.*40C>A			ENST00000300482				0	T:0	T:0	.	T:0.0014	.	A	.	protein_coding	YES	CCDS13710.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACGTTCCCCCC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	T:0.0023	ENSP00000381023	T:0	32/32	.	.	.	.	.	.	.	.	rs199623936	32/32	PASS	ENST00000397928	Transcript	.	T:0.0004	ENSG00000142185	12339	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.001	.	.	TRPM2_HUMAN	TRPM2	HGNC	C9JZQ8_HUMAN	.	UPI0000169D60	SNV	TRPM2,3_prime_UTR_variant,,ENST00000397928,;TRPM2,3_prime_UTR_variant,,ENST00000300481,;TRPM2,3_prime_UTR_variant,,ENST00000300482,;TRPM2,3_prime_UTR_variant,,ENST00000397932,;snoZ6,downstream_gene_variant,,ENST00000581669,;snoZ6,downstream_gene_variant,,ENST00000583496,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;TRPM2,non_coding_transcript_exon_variant,,ENST00000490982,;	4997	22	20	SUCCESS
MATN3	4148	.	GRCh37	2	20192730	20192730	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1416800412	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	11	28	0	ENST00000407540.3:c.*142T>C			ENST00000407540	NM_002381.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46226.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATACAATTTAT	NONE	.	.	.	.	.	ENSP00000383894	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000407540	Transcript	.	.	ENSG00000132031	6909	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MATN3_HUMAN	MATN3	HGNC	.	.	UPI000012F809	SNV	MATN3,3_prime_UTR_variant,,ENST00000407540,;WDR35,upstream_gene_variant,,ENST00000345530,;WDR35,upstream_gene_variant,,ENST00000281405,;MATN3,downstream_gene_variant,,ENST00000421259,;AC079145.4,intron_variant,,ENST00000416575,;WDR35,upstream_gene_variant,,ENST00000414212,;MATN3,downstream_gene_variant,,ENST00000478482,;	1666	28	34	SUCCESS
PCDHB8	56128	.	GRCh37	5	140564287	140564287	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	43	82	0				ENST00000239444	NM_019120.3	718		0	.	.	.	.	.	T	R/M	protein_coding	YES	CCDS4251.1	2153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGCAGGGCGG	NONE	.	.	hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	deleterious_low_confidence(0.01)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Arg718Met,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	3308	82	76	SUCCESS
FBXO4	26272	.	GRCh37	5	41941447	41941447	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	6	41	0	ENST00000281623.3:c.*64T>C			ENST00000281623	NM_012176.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3938.1	.	MUTECT|MUSE	.	GTGAATATTTG	NONE	.	.	.	.	.	ENSP00000281623	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000281623	Transcript	.	.	ENSG00000151876	13583	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX4_HUMAN	FBXO4	HGNC	.	.	UPI0000062307	SNV	FBXO4,3_prime_UTR_variant,,ENST00000509134,;FBXO4,3_prime_UTR_variant,,ENST00000281623,;FBXO4,non_coding_transcript_exon_variant,,ENST00000505566,;	1284	41	59	SUCCESS
HACE1	57531	.	GRCh37	6	105177520	105177520	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	44	17	74	0	ENST00000262903.4:c.*17C>A			ENST00000262903	NM_020771.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5050.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGGAGTTT	NONE	.	.	.	.	.	ENSP00000262903	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000262903	Transcript	.	.	ENSG00000085382	21033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HACE1_HUMAN	HACE1	HGNC	E5RFX0_HUMAN,E3W983_HUMAN	.	UPI00001602DC	SNV	HACE1,3_prime_UTR_variant,,ENST00000518503,;HACE1,3_prime_UTR_variant,,ENST00000262903,;HACE1,3_prime_UTR_variant,,ENST00000369125,;HACE1,3_prime_UTR_variant,,ENST00000518402,;HACE1,non_coding_transcript_exon_variant,,ENST00000517995,;HACE1,3_prime_UTR_variant,,ENST00000517424,;HACE1,3_prime_UTR_variant,,ENST00000416605,;HACE1,non_coding_transcript_exon_variant,,ENST00000369127,;HACE1,non_coding_transcript_exon_variant,,ENST00000518228,;	3024	74	62	SUCCESS
BTN3A2	11118	.	GRCh37	6	26377024	26377024	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	28	7	26	0	ENST00000356386.2:c.*302G>A			ENST00000356386	NM_007047.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4605.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTAAGAACGT	NONE	.	.	.	.	.	ENSP00000348751	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000356386	Transcript	.	.	ENSG00000186470	1139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A2_HUMAN	BTN3A2	HGNC	E9PRX1_HUMAN,E9PRR1_HUMAN	.	UPI000006E484	SNV	BTN3A2,3_prime_UTR_variant,,ENST00000356386,;BTN3A2,downstream_gene_variant,,ENST00000396934,;BTN3A2,downstream_gene_variant,,ENST00000508906,;BTN3A2,downstream_gene_variant,,ENST00000527639,;BTN3A2,downstream_gene_variant,,ENST00000527417,;BTN3A2,downstream_gene_variant,,ENST00000377708,;BTN3A2,downstream_gene_variant,,ENST00000527422,;BTN3A2,downstream_gene_variant,,ENST00000396948,;BTN3A2,downstream_gene_variant,,ENST00000524682,;BTN3A2,downstream_gene_variant,,ENST00000532627,;BTN3A2,downstream_gene_variant,,ENST00000532994,;BTN3A2,downstream_gene_variant,,ENST00000604202,;BTN3A2,downstream_gene_variant,,ENST00000532294,;BTN3A2,downstream_gene_variant,,ENST00000531055,;	1495	26	35	SUCCESS
HYAL4	23553	.	GRCh37	7	123517478	123517478	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	9	0	ENST00000223026.4:c.*269C>T			ENST00000223026	NM_012269.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5789.1	.	MUTECT|MUSE	.	CTTTTCATGAA	NONE	.	.	.	.	.	ENSP00000223026	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000223026	Transcript	.	.	ENSG00000106302	5323	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HYAL4_HUMAN	HYAL4	HGNC	C9JU18_HUMAN,C9J6F9_HUMAN	.	UPI000006F62B	SNV	HYAL4,3_prime_UTR_variant,,ENST00000223026,;HYAL4,downstream_gene_variant,,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000483878,;	2353	9	9	SUCCESS
ZC3HAV1	56829	.	GRCh37	7	138732242	138732242	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	47	0	ENST00000242351.5:c.*98C>A			ENST00000242351	NM_020119.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5851.1	.	MUTECT|MUSE	.	ACTGAGCAGGA	NONE	.	.	.	.	.	ENSP00000242351	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000242351	Transcript	.	.	ENSG00000105939	23721	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZCCHV_HUMAN	ZC3HAV1	HGNC	.	.	UPI00001612AE	SNV	ZC3HAV1,3_prime_UTR_variant,,ENST00000464606,;ZC3HAV1,3_prime_UTR_variant,,ENST00000242351,;RP11-383F6.1,downstream_gene_variant,,ENST00000429934,;	3124	47	37	SUCCESS
TMEM71	137835	.	GRCh37	8	133723179	133723179	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	188	50	117	0	ENST00000356838.3:c.*34C>A			ENST00000356838	NM_144649.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6366.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGATGGAGGAC	NONE	.	.	.	.	.	ENSP00000349296	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000356838	Transcript	.	.	ENSG00000165071	26572	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMM71_HUMAN	TMEM71	HGNC	E5RH69_HUMAN,E5RGD3_HUMAN	.	UPI000013E44E	SNV	TMEM71,synonymous_variant,p.%3D,ENST00000523829,;TMEM71,3_prime_UTR_variant,,ENST00000356838,;TMEM71,3_prime_UTR_variant,,ENST00000377901,;TMEM71,intron_variant,,ENST00000522780,;	1008	117	238	SUCCESS
ZBTB43	23099	.	GRCh37	9	129596621	129596621	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	141	57	256	0	ENST00000373457.1:c.*429A>G			ENST00000373457				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6867.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGGTAGCTAT	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373457,;ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;	2097	256	198	SUCCESS
FAM122A	0	.	GRCh37	9	71397646	71397646	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-O8-A75V-01	TCGA-O8-A75V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	155	68	198	0	ENST00000394264.3:c.*1702C>G			ENST00000394264	NM_138333.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6623.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGACCCTGTTG	NONE	.	.	.	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,3_prime_UTR_variant,,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	2683	198	223	SUCCESS
KRTAP5-11	440051	.	GRCh37	11	71293255	71293255	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	26	0	ENST00000398530.1:c.*158A>G			ENST00000398530	NM_001005405.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41685.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGCCTAGAGG	NONE	.	.	.	.	.	ENSP00000381541	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000398530	Transcript	.	.	ENSG00000204571	23606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KR511_HUMAN	KRTAP5-11	HGNC	.	.	UPI0000376063	SNV	KRTAP5-11,3_prime_UTR_variant,,ENST00000398530,;AP000867.1,intron_variant,,ENST00000343767,;KRTAP5-11,intron_variant,,ENST00000526239,;KRTAP5-14P,upstream_gene_variant,,ENST00000502328,;	667	26	41	SUCCESS
KCNJ2	3759	.	GRCh37	17	68175745	68175745	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	12	34	0	ENST00000243457.3:c.*3281C>A			ENST00000243457	NM_000891.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTACACTCCTA	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	4948	34	35	SUCCESS
IL11	3589	.	GRCh37	19	55877350	55877350	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	110	56	103	0	ENST00000264563.2:c.*25C>G			ENST00000264563	NM_000641.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12923.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAGGACGGT	NONE	.	.	.	.	.	ENSP00000264563	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000264563	Transcript	.	.	ENSG00000095752	5966	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IL11_HUMAN	IL11	HGNC	K7ESD5_HUMAN,A8K3F7_HUMAN	.	UPI000000D8E5	SNV	IL11,3_prime_UTR_variant,,ENST00000264563,;IL11,3_prime_UTR_variant,,ENST00000585513,;IL11,3_prime_UTR_variant,,ENST00000590625,;FAM71E2,upstream_gene_variant,,ENST00000424985,;IL11,downstream_gene_variant,,ENST00000587093,;FAM71E2,upstream_gene_variant,,ENST00000585734,;	688	103	166	SUCCESS
MACROD2	140733	.	GRCh37	20	16030583	16030583	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs374489875	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	29	19	44	0	ENST00000217246.4:c.*62C>T			ENST00000217246	NM_080676.5			0	T:0	.	.	.	.	T	.	protein_coding	YES	CCDS13120.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCACACGCTGT	NONE	.	.	.	.	T:0.0003	ENSP00000217246	.	17/17	.	.	.	.	.	.	.	.	rs374489875	17/17	PASS	ENST00000217246	Transcript	.	.	ENSG00000172264	16126	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MACD2_HUMAN	MACROD2	HGNC	.	.	UPI00005B2E12	SNV	MACROD2,3_prime_UTR_variant,,ENST00000378058,;MACROD2,3_prime_UTR_variant,,ENST00000217246,;MACROD2,3_prime_UTR_variant,,ENST00000402914,;MACROD2,3_prime_UTR_variant,,ENST00000407045,;MACROD2,downstream_gene_variant,,ENST00000310348,;	1735	44	48	SUCCESS
KLF2P1	106480253	.	GRCh37	2	130798117	130798117	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs557915158	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	12	0				ENST00000447438				0	.	A:0	.	A:0	.	A	.	processed_pseudogene	YES	.	.	MUTECT|MUSE	.	ATCTCGTCAAT	NONE	by1000G	2122	.	A:0	.	.	A:0.001	.	.	.	.	.	.	.	.	.	rs557915158	.	PASS	ENST00000447438	Transcript	.	A:0.0002	ENSG00000231240	49280	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	.	KLF2P1	HGNC	.	.	.	SNV	FAR2P1,non_coding_transcript_exon_variant,,ENST00000325390,;FAR2P1,non_coding_transcript_exon_variant,,ENST00000449736,;KLF2P1,downstream_gene_variant,,ENST00000447438,;	.	12	9	SUCCESS
ADAMTS6	11174	.	GRCh37	5	64447528	64447528	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	9	10	0	ENST00000381055.3:c.*135C>T			ENST00000381055	NM_197941.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3983.2	.	MUTECT|MUSE	.	AGCTAGGGCTG	NONE	.	.	.	.	.	ENSP00000370443	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000381055	Transcript	.	.	ENSG00000049192	222	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATS6_HUMAN	ADAMTS6	HGNC	Q5IR90_HUMAN	.	UPI000050D3F1	SNV	ADAMTS6,3_prime_UTR_variant,,ENST00000381055,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000314351,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;	4346	10	24	SUCCESS
GJA1	2697	.	GRCh37	6	121769512	121769512	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	13	47	1	ENST00000282561.3:c.*370T>G			ENST00000282561	NM_000165.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5123.1	.	MUTECT|SOMATICSNIPER|VARSCANS	.	TTTTGTTTTAC	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;	1676	48	41	SUCCESS
ZSCAN21	7589	.	GRCh37	7	99662525	99662525	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-PD-A5DF-01	TCGA-PD-A5DF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	134	58	93	0	ENST00000292450.4:c.*285G>A			ENST00000292450	NM_145914.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5681.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CAGACGTGTAT	NONE	.	.	.	.	.	ENSP00000292450	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000292450	Transcript	.	.	ENSG00000166529	13104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZSC21_HUMAN	ZSCAN21	HGNC	Q8N506_HUMAN,C9JHD9_HUMAN	.	UPI000000DBCC	SNV	ZNF3,synonymous_variant,p.%3D,ENST00000413658,;ZSCAN21,3_prime_UTR_variant,,ENST00000292450,;ZSCAN21,3_prime_UTR_variant,,ENST00000543588,;ZSCAN21,3_prime_UTR_variant,,ENST00000456748,;ZSCAN21,downstream_gene_variant,,ENST00000477297,;	1871	94	193	SUCCESS
MRPL17	63875	.	GRCh37	11	6703163	6703163	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	16	19	0	ENST00000288937.6:c.*186A>T			ENST00000288937	NM_022061.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31412.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATATATATT	NONE	.	.	.	.	.	ENSP00000288937	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000288937	Transcript	.	.	ENSG00000158042	14053	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM17_HUMAN	MRPL17	HGNC	.	.	UPI0000070867	SNV	MRPL17,3_prime_UTR_variant,,ENST00000288937,;MRPL17,downstream_gene_variant,,ENST00000532203,;MRPL17,intron_variant,,ENST00000532676,;MRPL17,downstream_gene_variant,,ENST00000529958,;RP11-732A19.1,downstream_gene_variant,,ENST00000464563,;	819	19	27	SUCCESS
SLITRK1	114798	.	GRCh37	13	84453482	84453482	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	4	12	0	ENST00000377084.2:c.*70G>A			ENST00000377084	NM_052910.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9464.1	.	MUTECT|MUSE	.	TCCAGCCCCCG	NONE	.	.	.	.	.	ENSP00000366288	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000377084	Transcript	.	.	ENSG00000178235	20297	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLIK1_HUMAN	SLITRK1	HGNC	.	.	UPI0000035971	SNV	SLITRK1,3_prime_UTR_variant,,ENST00000377084,;	3047	12	13	SUCCESS
THTPA	79178	.	GRCh37	14	24028932	24028932	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	31	58	0	ENST00000288014.6:c.*883G>T			ENST00000288014				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9602.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGGAGAATTT	NONE	.	.	.	.	.	ENSP00000312442	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000308724	Transcript	.	.	ENSG00000213983	556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1G2_HUMAN	AP1G2	HGNC	Q86U41_HUMAN,Q86U03_HUMAN,G3V532_HUMAN,G3V3Z2_HUMAN,G3V2V9_HUMAN	.	UPI0000124FE8	SNV	AP1G2,3_prime_UTR_variant,,ENST00000308724,;THTPA,3_prime_UTR_variant,,ENST00000288014,;AP1G2,3_prime_UTR_variant,,ENST00000397120,;THTPA,downstream_gene_variant,,ENST00000556545,;THTPA,downstream_gene_variant,,ENST00000404535,;ZFHX2,upstream_gene_variant,,ENST00000412565,;AP1G2,downstream_gene_variant,,ENST00000554477,;THTPA,downstream_gene_variant,,ENST00000557630,;THTPA,downstream_gene_variant,,ENST00000554970,;THTPA,downstream_gene_variant,,ENST00000556015,;THTPA,downstream_gene_variant,,ENST00000554789,;RP11-66N24.4,non_coding_transcript_exon_variant,,ENST00000553985,;RP11-66N24.4,downstream_gene_variant,,ENST00000555446,;RP11-66N24.3,upstream_gene_variant,,ENST00000555968,;RP11-66N24.4,downstream_gene_variant,,ENST00000556354,;AP1G2,downstream_gene_variant,,ENST00000555118,;AP1G2,downstream_gene_variant,,ENST00000555510,;AP1G2,downstream_gene_variant,,ENST00000556277,;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,;AP1G2,non_coding_transcript_exon_variant,,ENST00000557391,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554892,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554554,;AP1G2,non_coding_transcript_exon_variant,,ENST00000465445,;AP1G2,downstream_gene_variant,,ENST00000556741,;AP1G2,downstream_gene_variant,,ENST00000555789,;AP1G2,downstream_gene_variant,,ENST00000557132,;AP1G2,downstream_gene_variant,,ENST00000557162,;AP1G2,downstream_gene_variant,,ENST00000555974,;AP1G2,downstream_gene_variant,,ENST00000554977,;AP1G2,downstream_gene_variant,,ENST00000556966,;AP1G2,downstream_gene_variant,,ENST00000554982,;AP1G2,downstream_gene_variant,,ENST00000556152,;	3140	58	72	SUCCESS
HS3ST6	64711	.	GRCh37	16	1961528	1961528	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs975389116	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000293937.3:c.*63C>T			ENST00000293937				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45381.1	.	MUTECT|MUSE	.	TGCACGCAGCC	NONE	.	.	.	.	.	ENSP00000390354	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000443547	Transcript	.	.	ENSG00000162040	14178	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HS3ST6	HGNC	C9JH64_HUMAN	.	UPI0000E02544	SNV	HS3ST6,3_prime_UTR_variant,,ENST00000293937,;HS3ST6,3_prime_UTR_variant,,ENST00000443547,;HS3ST6,3_prime_UTR_variant,,ENST00000454677,;	999	17	15	SUCCESS
ZNF526	116115	.	GRCh37	19	42730688	42730688	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	78	45	81	1	ENST00000301215.3:c.*120T>A			ENST00000301215	NM_133444.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12598.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACCCTGGCCT	NONE	.	.	.	.	.	ENSP00000301215	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000301215	Transcript	.	.	ENSG00000167625	29415	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN526_HUMAN	ZNF526	HGNC	M0R395_HUMAN,H9ZYJ3_HUMAN	.	UPI00001C2011	SNV	ZNF526,3_prime_UTR_variant,,ENST00000301215,;GSK3A,downstream_gene_variant,,ENST00000398249,;GSK3A,downstream_gene_variant,,ENST00000222330,;ZNF526,downstream_gene_variant,,ENST00000597945,;GSK3A,downstream_gene_variant,,ENST00000493059,;GSK3A,downstream_gene_variant,,ENST00000453535,;	2358	82	123	SUCCESS
PRMT6	55170	.	GRCh37	1	107600691	107600691	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	59	48	60	0	ENST00000370078.1:c.*226G>T			ENST00000370078				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41360.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCGTGCTTAT	NONE	.	.	.	.	.	ENSP00000359095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370078	Transcript	.	.	ENSG00000198890	18241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANM6_HUMAN	PRMT6	HGNC	.	.	UPI000004B63D	SNV	PRMT6,3_prime_UTR_variant,,ENST00000370078,;PRMT6,3_prime_UTR_variant,,ENST00000361318,;	1391	60	107	SUCCESS
ARHGEF11	9826	.	GRCh37	1	156905755	156905755	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	33	71	0	ENST00000361409.2:c.*37T>G			ENST00000361409	NM_014784.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1163.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAGGAGGAGT	NONE	.	.	.	.	.	ENSP00000357177	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000368194	Transcript	.	.	ENSG00000132694	14580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHGB_HUMAN	ARHGEF11	HGNC	.	.	UPI00001D62A7	SNV	ARHGEF11,3_prime_UTR_variant,,ENST00000361409,;ARHGEF11,3_prime_UTR_variant,,ENST00000315174,;ARHGEF11,3_prime_UTR_variant,,ENST00000368194,;LRRC71,downstream_gene_variant,,ENST00000337428,;MIR765,downstream_gene_variant,,ENST00000390226,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000487682,;LRRC71,downstream_gene_variant,,ENST00000476550,;LRRC71,downstream_gene_variant,,ENST00000472465,;LRRC71,downstream_gene_variant,,ENST00000490146,;ARHGEF11,downstream_gene_variant,,ENST00000492592,;	5766	71	130	SUCCESS
CCDC108	0	.	GRCh37	2	219867596	219867596	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	33	0	ENST00000341552.5:c.*63C>A			ENST00000341552	NM_194302.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2430.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTACTGGCGGT	NONE	.	.	.	.	.	ENSP00000340776	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000341552	Transcript	.	.	ENSG00000181378	25325	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC108_HUMAN	CCDC108	HGNC	C9JLP9_HUMAN,C9JIV0_HUMAN	.	UPI0000609097	SNV	CCDC108,3_prime_UTR_variant,,ENST00000453220,;CCDC108,3_prime_UTR_variant,,ENST00000341552,;CCDC108,3_prime_UTR_variant,,ENST00000441968,;MIR375,upstream_gene_variant,,ENST00000362103,;AC097468.4,intron_variant,,ENST00000441450,;	5925	33	38	SUCCESS
SOX11	6664	.	GRCh37	2	5839418	5839418	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	105	63	132	0	ENST00000322002.3:c.*5239T>C			ENST00000322002	NM_003108.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTTTTCAGG	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	6620	133	168	SUCCESS
GPR128	0	.	GRCh37	3	100414007	100414007	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	10	0	ENST00000273352.3:c.*162G>A			ENST00000273352	NM_032787.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2938.1	.	MUTECT|MUSE	.	TAATGGACTTG	NONE	.	.	.	.	.	ENSP00000273352	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000273352	Transcript	.	.	ENSG00000144820	19241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GP128_HUMAN	GPR128	HGNC	Q6ZMH0_HUMAN	.	UPI000004B6DF	SNV	GPR128,3_prime_UTR_variant,,ENST00000273352,;GPR128,3_prime_UTR_variant,,ENST00000475887,;GPR128,non_coding_transcript_exon_variant,,ENST00000481506,;	2824	10	9	SUCCESS
LIPH	200879	.	GRCh37	3	185226333	185226333	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	8	0	ENST00000296252.4:c.*245G>A			ENST00000296252	NM_139248.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3272.1	.	MUTECT|MUSE	.	GCAGACACAGC	NONE	.	.	.	.	.	ENSP00000296252	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000296252	Transcript	.	.	ENSG00000163898	18483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIPH_HUMAN	LIPH	HGNC	A2IBA8_HUMAN	.	UPI000003AEB8	SNV	LIPH,3_prime_UTR_variant,,ENST00000424591,;LIPH,3_prime_UTR_variant,,ENST00000296252,;LIPH,downstream_gene_variant,,ENST00000435679,;	1743	8	11	SUCCESS
TTK	7272	.	GRCh37	6	80752053	80752053	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	27	33	0	ENST00000369798.2:c.*134T>C			ENST00000369798	NM_003318.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4993.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGATTATCTT	NONE	.	.	.	.	.	ENSP00000358813	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000369798	Transcript	.	.	ENSG00000112742	12401	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTK_HUMAN	TTK	HGNC	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN	.	UPI0000073C7B	SNV	TTK,3_prime_UTR_variant,,ENST00000369798,;TTK,3_prime_UTR_variant,,ENST00000509894,;TTK,3_prime_UTR_variant,,ENST00000230510,;TTK,downstream_gene_variant,,ENST00000504590,;	2819	33	50	SUCCESS
GLT6D1	360203	.	GRCh37	9	138515846	138515846	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-QA-A7B7-01	TCGA-QA-A7B7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	30	28	56	0	ENST00000371763.1:c.*97A>G			ENST00000371763	NM_182974.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43900.1	.	MUTECT|MUSE	.	CGTAATTCATA	NONE	.	.	.	.	.	ENSP00000360829	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371763	Transcript	.	.	ENSG00000204007	23671	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GL6D1_HUMAN	GLT6D1	HGNC	.	.	UPI0000246F68	SNV	GLT6D1,3_prime_UTR_variant,,ENST00000371763,;	1182	56	58	SUCCESS
LDHAL6B	92483	.	GRCh37	15	59500477	59500477	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	41	120	0	ENST00000307144.4:c.*192C>T			ENST00000307144	NM_033195.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10171.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTCCTAAGT	NONE	.	.	.	.	.	ENSP00000302393	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307144	Transcript	.	.	ENSG00000171989	21481	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LDH6B_HUMAN	LDHAL6B	HGNC	.	.	UPI000012E326	SNV	LDHAL6B,3_prime_UTR_variant,,ENST00000307144,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,intron_variant,,ENST00000560749,;MYO1E,intron_variant,,ENST00000288235,;MYO1E,downstream_gene_variant,,ENST00000559489,;RNU4-80P,downstream_gene_variant,,ENST00000363200,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,intron_variant,,ENST00000560642,;	1436	120	114	SUCCESS
RPS27L	51065	.	GRCh37	15	63446212	63446212	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	182	42	227	0	ENST00000330964.5:c.*19G>C			ENST00000330964	NM_015920.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42048.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTCAGGAA	NONE	.	.	.	.	.	ENSP00000331019	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330964	Transcript	.	.	ENSG00000185088	18476	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RS27L_HUMAN	RPS27L	HGNC	C9J1C5_HUMAN	.	UPI0000000A48	SNV	RPS27L,3_prime_UTR_variant,,ENST00000411926,;RPS27L,3_prime_UTR_variant,,ENST00000330964,;RPS27L,3_prime_UTR_variant,,ENST00000462430,;RPS27L,3_prime_UTR_variant,,ENST00000455271,;RPS27L,downstream_gene_variant,,ENST00000439025,;RPS27L,intron_variant,,ENST00000559763,;RPS27L,non_coding_transcript_exon_variant,,ENST00000482846,;	671	227	225	SUCCESS
ONECUT2	9480	.	GRCh37	18	55144054	55144054	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	10	0	ENST00000491143.2:c.*99C>T			ENST00000491143	NM_004852.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42440.1	.	MUTECT|MUSE	.	GGGCCCTTCAC	NONE	.	.	.	.	.	ENSP00000419185	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000491143	Transcript	.	.	ENSG00000119547	8139	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ONEC2_HUMAN	ONECUT2	HGNC	.	.	UPI0000201DC1	SNV	ONECUT2,3_prime_UTR_variant,,ENST00000491143,;ONECUT2,downstream_gene_variant,,ENST00000481727,;	1646	10	13	SUCCESS
WDR62	284403	.	GRCh37	19	36545843	36545843	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	9	30	0				ENST00000270301				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46059.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAGGGGATGTA	NONE	.	.	.	.	.	ENSP00000384792	.	1/32	.	.	.	.	.	.	.	.	.	1/32	PASS	ENST00000401500	Transcript	1	.	ENSG00000075702	24502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR62_HUMAN	WDR62	HGNC	.	.	UPI000022A7E9	SNV	WDR62,5_prime_UTR_variant,,ENST00000388999,;WDR62,5_prime_UTR_variant,,ENST00000401500,;WDR62,upstream_gene_variant,,ENST00000270301,;THAP8,upstream_gene_variant,,ENST00000538849,;THAP8,upstream_gene_variant,,ENST00000292894,;WDR62,upstream_gene_variant,,ENST00000427823,;WDR62,non_coding_transcript_exon_variant,,ENST00000378860,;THAP8,upstream_gene_variant,,ENST00000524106,;THAP8,upstream_gene_variant,,ENST00000522483,;WDR62,upstream_gene_variant,,ENST00000587391,;WDR62,upstream_gene_variant,,ENST00000608676,;THAP8,upstream_gene_variant,,ENST00000607730,;	5	30	29	SUCCESS
SPRY1	10252	.	GRCh37	4	124324197	124324198	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	81	11	93	0	ENST00000339241.1:c.*497dup			ENST00000339241	NM_199327.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3731.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GATATATTTTT	NONE	.	.	.	.	.	ENSP00000377871	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394339	Transcript	.	.	ENSG00000164056	11269	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPY1_HUMAN	SPRY1	HGNC	D6RIE6_HUMAN,D6RHD2_HUMAN,D6REX7_HUMAN	.	UPI0000035D8F	insertion	SPRY1,3_prime_UTR_variant,,ENST00000339241,;SPRY1,3_prime_UTR_variant,,ENST00000394339,;SPRY1,downstream_gene_variant,,ENST00000508849,;SPRY1,downstream_gene_variant,,ENST00000505319,;SPRY1,downstream_gene_variant,,ENST00000507703,;SPRY1,downstream_gene_variant,,ENST00000515726,;	1791-1792	93	92	SUCCESS
PRRT1	80863	.	GRCh37	6	32119914	32119914	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	20	0				ENST00000211413	NM_030651.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4739.1	.	MUTECT|MUSE	.	TTGTCATGGAA	NONE	.	185	.	.	.	ENSP00000211413	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000211413	Transcript	.	.	ENSG00000204314	13943	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRRT1_HUMAN	PRRT1	HGNC	.	.	UPI000012FFED	SNV	PRRT1,5_prime_UTR_variant,,ENST00000375150,;PRRT1,5_prime_UTR_variant,,ENST00000428778,;PRRT1,upstream_gene_variant,,ENST00000211413,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000324816,;PPT2,upstream_gene_variant,,ENST00000375143,;PRRT1,upstream_gene_variant,,ENST00000375152,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PPT2,upstream_gene_variant,,ENST00000361568,;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000445576,;PPT2,upstream_gene_variant,,ENST00000437001,;PRRT1,non_coding_transcript_exon_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000493548,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,downstream_gene_variant,,ENST00000485392,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000494332,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,upstream_gene_variant,,ENST00000467780,;PRRT1,upstream_gene_variant,,ENST00000472641,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000479001,;PRRT1,upstream_gene_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2,upstream_gene_variant,,ENST00000436118,;	.	20	23	SUCCESS
RAB30	27314	.	GRCh37	11	82693112	82693112	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	12	27	0	ENST00000260056.2:c.*95T>C			ENST00000260056				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8264.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTCAGAGAG	NONE	.	.	.	.	.	ENSP00000435189	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000533486	Transcript	.	.	ENSG00000137502	9770	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAB30_HUMAN	RAB30	HGNC	E9PS06_HUMAN,E9PRX0_HUMAN,E9PRF7_HUMAN,E9PQ07_HUMAN,E9PMJ1_HUMAN,E9PJQ5_HUMAN,E9PI18_HUMAN,A8K5R1_HUMAN	.	UPI000002356C	SNV	RAB30,3_prime_UTR_variant,,ENST00000533486,;RAB30,3_prime_UTR_variant,,ENST00000260056,;RAB30,3_prime_UTR_variant,,ENST00000534141,;RAB30,downstream_gene_variant,,ENST00000525117,;RAB30,downstream_gene_variant,,ENST00000527633,;RAB30,downstream_gene_variant,,ENST00000531021,;RAB30,downstream_gene_variant,,ENST00000533014,;RAB30,downstream_gene_variant,,ENST00000534301,;RP11-659G9.3,intron_variant,,ENST00000527550,;	992	27	27	SUCCESS
FUT4	2526	.	GRCh37	11	94282489	94282489	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	15	46	0	ENST00000358752.2:c.*3597A>G			ENST00000358752	NM_002033.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8301.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTACCGAG	NONE	.	.	.	.	.	ENSP00000351602	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000358752	Transcript	.	.	ENSG00000196371	4015	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT4_HUMAN	FUT4	HGNC	.	.	UPI000002CC7E	SNV	FUT4,3_prime_UTR_variant,,ENST00000358752,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,intron_variant,,ENST00000446230,;	5473	46	46	SUCCESS
MRP63	0	.	GRCh37	13	21753041	21753041	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	14	28	0	ENST00000309594.4:c.*1677A>T			ENST00000309594	NM_024026.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9296.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGGAGGTTG	NONE	.	.	.	.	.	ENSP00000310726	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000309594	Transcript	.	.	ENSG00000173141	14514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RT63_HUMAN	MRP63	HGNC	.	.	UPI000004C5AC	SNV	MRP63,3_prime_UTR_variant,,ENST00000309594,;SKA3,upstream_gene_variant,,ENST00000314759,;SKA3,upstream_gene_variant,,ENST00000400018,;SKA3,upstream_gene_variant,,ENST00000475251,;SKA3,upstream_gene_variant,,ENST00000465471,;SKA3,upstream_gene_variant,,ENST00000462482,;SKA3,upstream_gene_variant,,ENST00000298260,;	2064	28	19	SUCCESS
CYSLTR2	57105	.	GRCh37	13	49282544	49282544	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	38	0	ENST00000282018.3:c.*550G>T			ENST00000282018	NM_020377.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9412.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGGAGCAAAA	NONE	.	.	.	.	.	ENSP00000282018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000282018	Transcript	.	.	ENSG00000152207	18274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLTR2_HUMAN	CYSLTR2	HGNC	Q5KU17_HUMAN	.	UPI000003BCCC	SNV	CYSLTR2,3_prime_UTR_variant,,ENST00000282018,;	1594	38	22	SUCCESS
RNASE12	493901	.	GRCh37	14	21058375	21058375	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	18	0	ENST00000556526.1:c.*64A>G			ENST00000556526	NM_001024822.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32037.1	.	MUTECT|MUSE	.	CTGCCTCAGGC	NONE	.	.	.	.	.	ENSP00000450580	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000556526	Transcript	.	.	ENSG00000258436	24211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RNS12_HUMAN	RNASE12	HGNC	.	.	UPI00004C6F5C	SNV	RNASE12,3_prime_UTR_variant,,ENST00000556526,;RNASE11,5_prime_UTR_variant,,ENST00000610205,;RNASE11,intron_variant,,ENST00000413502,;RNASE11,intron_variant,,ENST00000555283,;RNASE11,upstream_gene_variant,,ENST00000557105,;RNASE11,upstream_gene_variant,,ENST00000398009,;RNASE11,upstream_gene_variant,,ENST00000555841,;RNASE11,upstream_gene_variant,,ENST00000432835,;RNASE11,upstream_gene_variant,,ENST00000443456,;RNASE11,upstream_gene_variant,,ENST00000553849,;RNASE11,upstream_gene_variant,,ENST00000554842,;RNASE11,upstream_gene_variant,,ENST00000398008,;RNASE11,upstream_gene_variant,,ENST00000557503,;RP11-14J7.6,non_coding_transcript_exon_variant,,ENST00000554006,;RP11-14J7.6,intron_variant,,ENST00000553604,;RP11-14J7.6,intron_variant,,ENST00000554529,;RP11-14J7.6,intron_variant,,ENST00000556487,;RP11-14J7.6,upstream_gene_variant,,ENST00000554993,;RNASE11,3_prime_UTR_variant,,ENST00000335950,;	608	18	10	SUCCESS
TMED6	146456	.	GRCh37	16	69377168	69377168	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	17	0	ENST00000288025.3:c.*142T>C			ENST00000288025	NM_144676.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10878.1	.	MUTECT|MUSE	.	TTATGATTTTA	NONE	.	.	.	.	.	ENSP00000288025	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000288025	Transcript	.	.	ENSG00000157315	28331	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMED6_HUMAN	TMED6	HGNC	.	.	UPI0000039E20	SNV	TMED6,3_prime_UTR_variant,,ENST00000288025,;RP11-343C2.9,intron_variant,,ENST00000563634,;COG8,upstream_gene_variant,,ENST00000567493,;COG8,upstream_gene_variant,,ENST00000562595,;NIP7,downstream_gene_variant,,ENST00000569637,;NIP7,downstream_gene_variant,,ENST00000562523,;COG8,upstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000306875,;NIP7,downstream_gene_variant,,ENST00000254941,;NIP7,downstream_gene_variant,,ENST00000254940,;NIP7,downstream_gene_variant,,ENST00000567202,;RP11-343C2.7,intron_variant,,ENST00000570293,;RP11-343C2.7,intron_variant,,ENST00000564737,;NIP7,downstream_gene_variant,,ENST00000562131,;NIP7,downstream_gene_variant,,ENST00000565034,;TMED6,downstream_gene_variant,,ENST00000568748,;NIP7,downstream_gene_variant,,ENST00000563364,;	921	17	21	SUCCESS
TMED6	146456	.	GRCh37	16	69377250	69377250	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	24	43	0	ENST00000288025.3:c.*60T>C			ENST00000288025	NM_144676.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10878.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATTACAAAG	NONE	.	.	.	.	.	ENSP00000288025	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000288025	Transcript	.	.	ENSG00000157315	28331	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMED6_HUMAN	TMED6	HGNC	.	.	UPI0000039E20	SNV	TMED6,3_prime_UTR_variant,,ENST00000288025,;RP11-343C2.9,intron_variant,,ENST00000563634,;COG8,upstream_gene_variant,,ENST00000567493,;COG8,upstream_gene_variant,,ENST00000562595,;NIP7,downstream_gene_variant,,ENST00000569637,;NIP7,downstream_gene_variant,,ENST00000562523,;COG8,upstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000306875,;NIP7,downstream_gene_variant,,ENST00000254941,;NIP7,downstream_gene_variant,,ENST00000254940,;NIP7,downstream_gene_variant,,ENST00000567202,;RP11-343C2.7,intron_variant,,ENST00000570293,;RP11-343C2.7,intron_variant,,ENST00000564737,;NIP7,downstream_gene_variant,,ENST00000562131,;NIP7,downstream_gene_variant,,ENST00000565034,;TMED6,downstream_gene_variant,,ENST00000568748,;NIP7,downstream_gene_variant,,ENST00000563364,;	839	43	52	SUCCESS
TXNDC2	84203	.	GRCh37	18	9888198	9888198	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	11	0				ENST00000306084	NM_001098529.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42414.1	.	MUTECT|MUSE	.	CTTTTATTATT	NONE	.	48	.	.	.	ENSP00000304908	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000306084	Transcript	.	.	ENSG00000168454	16470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TXND2_HUMAN	TXNDC2	HGNC	F5H6S7_HUMAN	.	UPI000013EAE7	SNV	TXNDC2,3_prime_UTR_variant,,ENST00000357775,;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000306084,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;	.	11	16	SUCCESS
OR2C3	81472	.	GRCh37	1	247694727	247694727	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	19	24	0	ENST00000366487.3:c.*124T>A			ENST00000366487	NM_198074.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1634.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTCAGATTT	NONE	.	.	.	.	.	ENSP00000355443	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366487	Transcript	.	.	ENSG00000196242	15005	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR2C3_HUMAN	OR2C3	HGNC	.	.	UPI0000061EBD	SNV	OR2C3,3_prime_UTR_variant,,ENST00000366487,;GCSAML,intron_variant,,ENST00000527084,;GCSAML,intron_variant,,ENST00000527541,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000366489,;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000366490,;GCSAML,intron_variant,,ENST00000366491,;GCSAML,intron_variant,,ENST00000529512,;GCSAML-AS1,upstream_gene_variant,,ENST00000420469,;GCSAML,intron_variant,,ENST00000531662,;	1449	24	55	SUCCESS
GJB4	127534	.	GRCh37	1	35228049	35228049	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	26	25	0	ENST00000339480.1:c.*393G>T			ENST00000339480	NM_153212.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS383.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCAGGCTCA	NONE	.	.	.	.	.	ENSP00000345868	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339480	Transcript	.	.	ENSG00000189433	4286	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXB4_HUMAN	GJB4	HGNC	.	.	UPI0000051E4B	SNV	GJB4,3_prime_UTR_variant,,ENST00000339480,;GJB5,downstream_gene_variant,,ENST00000338513,;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	1564	25	47	SUCCESS
SCMH1	22955	.	GRCh37	1	41493722	41493722	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	21	0	ENST00000326197.7:c.*144T>A			ENST00000326197				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30688.1	.	MUTECT|MUSE	.	TGGCTAGGAGT	NONE	.	.	.	.	.	ENSP00000386079	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000402904	Transcript	.	.	ENSG00000010803	19003	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SCMH1_HUMAN	SCMH1	HGNC	.	.	UPI000006FD9B	SNV	SCMH1,3_prime_UTR_variant,,ENST00000397174,;SCMH1,3_prime_UTR_variant,,ENST00000326197,;SCMH1,3_prime_UTR_variant,,ENST00000372597,;SCMH1,3_prime_UTR_variant,,ENST00000361191,;SCMH1,3_prime_UTR_variant,,ENST00000361705,;SCMH1,3_prime_UTR_variant,,ENST00000372595,;SCMH1,3_prime_UTR_variant,,ENST00000402904,;SCMH1,3_prime_UTR_variant,,ENST00000456518,;SCMH1,3_prime_UTR_variant,,ENST00000337495,;SCMH1,3_prime_UTR_variant,,ENST00000372596,;SCMH1,3_prime_UTR_variant,,ENST00000397171,;SLFNL1,upstream_gene_variant,,ENST00000359345,;SCMH1,intron_variant,,ENST00000472037,;SCMH1,downstream_gene_variant,,ENST00000460215,;SCMH1,downstream_gene_variant,,ENST00000498793,;	2496	21	20	SUCCESS
ANKRD60	140731	.	GRCh37	20	56807870	56807870	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	29	0				ENST00000457363				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACTCCTTGC	NONE	.	4161	.	.	.	ENSP00000396747	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000457363	Transcript	.	.	ENSG00000124227	16217	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR60_HUMAN	ANKRD60	HGNC	.	.	UPI00015B3C70	SNV	PPP4R1L,3_prime_UTR_variant,,ENST00000334187,;PPP4R1L,3_prime_UTR_variant,,ENST00000457990,;ANKRD60,upstream_gene_variant,,ENST00000371167,;ANKRD60,upstream_gene_variant,,ENST00000457363,;PPP4R1L,3_prime_UTR_variant,,ENST00000497138,;PPP4R1L,non_coding_transcript_exon_variant,,ENST00000467784,;	.	29	29	SUCCESS
INPP5J	27124	.	GRCh37	22	31530466	31530466	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs879237491	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	8	0	ENST00000331075.5:c.*61A>C			ENST00000331075	NM_001284285.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46687.1	.	MUTECT|MUSE	.	AGCCCACCTGC	NONE	.	.	.	.	.	ENSP00000384534	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000404390	Transcript	.	.	ENSG00000185133	8956	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PI5PA_HUMAN	INPP5J	HGNC	C9J0H5_HUMAN,B5MBZ3_HUMAN	.	UPI00003FF78A	SNV	INPP5J,3_prime_UTR_variant,,ENST00000401755,;INPP5J,3_prime_UTR_variant,,ENST00000404453,;INPP5J,3_prime_UTR_variant,,ENST00000405300,;INPP5J,3_prime_UTR_variant,,ENST00000404390,;INPP5J,3_prime_UTR_variant,,ENST00000331075,;INPP5J,3_prime_UTR_variant,,ENST00000402238,;INPP5J,3_prime_UTR_variant,,ENST00000400294,;INPP5J,downstream_gene_variant,,ENST00000412277,;PLA2G3,downstream_gene_variant,,ENST00000215885,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;	1999	8	9	SUCCESS
PNPLA5	150379	.	GRCh37	22	44276649	44276649	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	14	0	ENST00000216177.4:c.*26G>T			ENST00000216177	NM_138814.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14053.1	.	RADIA|MUTECT|MUSE	.	CCAGTCACTGG	NONE	.	.	.	.	.	ENSP00000216177	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000216177	Transcript	.	.	ENSG00000100341	24888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PLPL5_HUMAN	PNPLA5	HGNC	.	.	UPI000006D0C8	SNV	PNPLA5,3_prime_UTR_variant,,ENST00000381198,;PNPLA5,3_prime_UTR_variant,,ENST00000593866,;PNPLA5,3_prime_UTR_variant,,ENST00000216177,;PNPLA5,3_prime_UTR_variant,,ENST00000597664,;PNPLA5,downstream_gene_variant,,ENST00000438734,;	1449	14	9	SUCCESS
LRP2	4036	.	GRCh37	2	169985170	169985170	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	76	52	106	0	ENST00000263816.3:c.*3A>G			ENST00000263816	NM_004525.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2232.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTATAGCTA	NONE	.	.	.	.	.	ENSP00000263816	.	79/79	.	.	.	.	.	.	.	.	.	79/79	PASS	ENST00000263816	Transcript	.	.	ENSG00000081479	6694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRP2_HUMAN	LRP2	HGNC	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN	.	UPI0000141BA5	SNV	LRP2,3_prime_UTR_variant,,ENST00000263816,;LRP2,downstream_gene_variant,,ENST00000491228,;	14257	106	129	SUCCESS
ALPP	250	.	GRCh37	2	233246573	233246573	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	9	13	0	ENST00000392027.2:c.*68T>G			ENST00000392027	NM_001632.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2490.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTCCTGCCTG	NONE	.	.	.	.	.	ENSP00000375881	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000392027	Transcript	.	.	ENSG00000163283	439	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPB1_HUMAN	ALPP	HGNC	.	.	UPI0000131FF9	SNV	ALPP,3_prime_UTR_variant,,ENST00000392027,;AC068134.8,upstream_gene_variant,,ENST00000439072,;AC068134.8,upstream_gene_variant,,ENST00000441266,;ECEL1P2,downstream_gene_variant,,ENST00000461596,;ALPP,non_coding_transcript_exon_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;ECEL1P2,downstream_gene_variant,,ENST00000465689,;	1945	13	19	SUCCESS
ATP2B2	491	.	GRCh37	3	10370327	10370327	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	9	11	0	ENST00000352432.4:c.*171G>A			ENST00000352432				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33701.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATCGCAGCCA	NONE	.	.	.	.	.	ENSP00000353414	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000360273	Transcript	.	.	ENSG00000157087	815	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT2B2_HUMAN	ATP2B2	HGNC	Q4J699_HUMAN,Q4J696_HUMAN	.	UPI00001261EF	SNV	ATP2B2,3_prime_UTR_variant,,ENST00000343816,;ATP2B2,3_prime_UTR_variant,,ENST00000383800,;ATP2B2,3_prime_UTR_variant,,ENST00000397077,;ATP2B2,3_prime_UTR_variant,,ENST00000352432,;ATP2B2,3_prime_UTR_variant,,ENST00000360273,;ATP2B2,3_prime_UTR_variant,,ENST00000452124,;MIR378B,upstream_gene_variant,,ENST00000578876,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000467702,;ATP2B2,downstream_gene_variant,,ENST00000468426,;ATP2B2,3_prime_UTR_variant,,ENST00000460129,;	4342	11	20	SUCCESS
RUFY3	22902	.	GRCh37	4	71659507	71659507	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs372273317	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	37	135	0				ENST00000226328	NM_014961.3	448		0	A:0	.	.	.	.	A	R/H	protein_coding	YES	CCDS34001.1	1343	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGCGCCAGG	NONE	byFrequency|byCluster	.	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF37	.	A:0.0001	ENSP00000370394	.	13/18	.	.	.	.	.	.	.	.	rs372273317	13/18	PASS	ENST00000381006	Transcript	.	.	ENSG00000018189	30285	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.024)	.	tolerated(0.08)	.	RUFY3_HUMAN	RUFY3	HGNC	D6REM9_HUMAN,D6RCQ1_HUMAN	.	UPI00005FB126	SNV	RUFY3,missense_variant,p.Arg395His,ENST00000502653,;RUFY3,missense_variant,p.Arg448His,ENST00000381006,;RUFY3,downstream_gene_variant,,ENST00000417478,;RUFY3,downstream_gene_variant,,ENST00000226328,;RUFY3,downstream_gene_variant,,ENST00000536664,;RUFY3,upstream_gene_variant,,ENST00000507333,;RUFY3,missense_variant,p.Ala103Thr,ENST00000504805,;RUFY3,intron_variant,,ENST00000512103,;RUFY3,upstream_gene_variant,,ENST00000503025,;	1922	135	173	SUCCESS
FBXO38	81545	.	GRCh37	5	147821927	147821927	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	8	0	ENST00000340253.5:c.*217T>C			ENST00000340253	NM_030793.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS43384.1	.	MUTECT|MUSE	.	ATGTTTATACA	NONE	.	.	.	.	.	ENSP00000377895	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000394370	Transcript	1	.	ENSG00000145868	28844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FBX38_HUMAN	FBXO38	HGNC	.	.	UPI000034ECEB	SNV	FBXO38,3_prime_UTR_variant,,ENST00000394370,;FBXO38,3_prime_UTR_variant,,ENST00000513826,;FBXO38,3_prime_UTR_variant,,ENST00000340253,;FBXO38,3_prime_UTR_variant,,ENST00000296701,;FBXO38,downstream_gene_variant,,ENST00000505399,;FBXO38,downstream_gene_variant,,ENST00000508176,;	3660	8	10	SUCCESS
PRPF4B	8899	.	GRCh37	6	4061022	4061022	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	23	0	ENST00000337659.6:c.*172G>C			ENST00000337659	NM_003913.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4488.1	.	MUTECT|MUSE	.	AATCTGTTTTG	NONE	.	.	.	.	.	ENSP00000337194	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000337659	Transcript	.	.	ENSG00000112739	17346	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRP4B_HUMAN	PRPF4B	HGNC	H0YDJ3_HUMAN,F5H2U2_HUMAN	.	UPI000013DD12	SNV	PRPF4B,3_prime_UTR_variant,,ENST00000337659,;PRPF4B,downstream_gene_variant,,ENST00000538861,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,intron_variant,,ENST00000494674,;PRPF4B,upstream_gene_variant,,ENST00000461612,;PRPF4B,downstream_gene_variant,,ENST00000466185,;PRPF4B,upstream_gene_variant,,ENST00000490653,;PRPF4B,3_prime_UTR_variant,,ENST00000480058,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000463634,;PRPF4B,intron_variant,,ENST00000481109,;	3296	23	22	SUCCESS
FSCN1	6624	.	GRCh37	7	5645115	5645115	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1282503626	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	12	20	0	ENST00000382361.3:c.*10G>A			ENST00000382361	NM_003088.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5342.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCCCGTCCTT	NONE	.	.	.	.	.	ENSP00000371798	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000382361	Transcript	.	.	ENSG00000075618	11148	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FSCN1_HUMAN	FSCN1	HGNC	Q96IH1_HUMAN,H7BYX5_HUMAN,C9JPH9_HUMAN,C9JFC0_HUMAN,B3KTM9_HUMAN	.	UPI000003F063	SNV	FSCN1,3_prime_UTR_variant,,ENST00000382361,;FSCN1,3_prime_UTR_variant,,ENST00000340250,;FSCN1,downstream_gene_variant,,ENST00000447103,;FSCN1,downstream_gene_variant,,ENST00000444748,;FSCN1,downstream_gene_variant,,ENST00000405801,;FSCN1,non_coding_transcript_exon_variant,,ENST00000473330,;	1606	20	19	SUCCESS
CPSF4	10898	.	GRCh37	7	99054154	99054164	+	3_prime_UTR_variant	3'UTR	DEL	GGGGCCCCGCT	GGGGCCCCGCT	-	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	GGGGCCCCGCT	GGGGCCCCGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	16	0	ENST00000292476.5:c.*32_*42del			ENST00000292476				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5664.1	.	INDELOCATOR|VARSCANI	.	AGCCCGGGGGCCCCGCTGTTGG	NONE	.	.	.	.	.	ENSP00000292476	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000292476	Transcript	.	.	ENSG00000160917	2327	1	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CPSF4_HUMAN	CPSF4	HGNC	C9K0K2_HUMAN	.	UPI0000072392	deletion	CPSF4,frameshift_variant,p.Gly179TrpfsTer?,ENST00000440514,;CPSF4,frameshift_variant,p.Gly192LeufsTer6,ENST00000452047,;CPSF4,3_prime_UTR_variant,,ENST00000436336,;CPSF4,3_prime_UTR_variant,,ENST00000451876,;CPSF4,3_prime_UTR_variant,,ENST00000292476,;CPSF4,3_prime_UTR_variant,,ENST00000441580,;PTCD1,intron_variant,,ENST00000555673,;ATP5J2-PTCD1,intron_variant,,ENST00000413834,;PTCD1,intron_variant,,ENST00000430982,;ATP5J2,downstream_gene_variant,,ENST00000523680,;ATP5J2,downstream_gene_variant,,ENST00000292475,;ATP5J2,downstream_gene_variant,,ENST00000449683,;ATP5J2,downstream_gene_variant,,ENST00000488775,;ATP5J2,downstream_gene_variant,,ENST00000544611,;ATP5J2,downstream_gene_variant,,ENST00000394186,;ATP5J2,downstream_gene_variant,,ENST00000359832,;ATP5J2,intron_variant,,ENST00000466753,;ATP5J2-PTCD1,intron_variant,,ENST00000437572,;CPSF4,downstream_gene_variant,,ENST00000471455,;CPSF4,non_coding_transcript_exon_variant,,ENST00000469897,;ATP5J2,intron_variant,,ENST00000414062,;ATP5J2-PTCD1,intron_variant,,ENST00000451138,;ATP5J2,downstream_gene_variant,,ENST00000485011,;ATP5J2,downstream_gene_variant,,ENST00000491560,;CPSF4,downstream_gene_variant,,ENST00000465132,;CPSF4,downstream_gene_variant,,ENST00000482251,;ATP5J2,downstream_gene_variant,,ENST00000481899,;ATP5J2,downstream_gene_variant,,ENST00000524321,;	851-861	16	23	SUCCESS
GABBR2	9568	.	GRCh37	9	101052751	101052751	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	16	0	ENST00000259455.2:c.*115C>T			ENST00000259455	NM_005458.7			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6736.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	GAGAGGCCAGC	NONE	.	.	.	.	.	ENSP00000259455	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000259455	Transcript	.	.	ENSG00000136928	4507	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GABR2_HUMAN	GABBR2	HGNC	H9NIL8_HUMAN	.	UPI0000035832	SNV	GABBR2,3_prime_UTR_variant,,ENST00000259455,;	3401	16	13	SUCCESS
TMSB15B	286527	.	GRCh37	X	103220363	103220363	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	10	13	0	ENST00000419165.1:c.*214G>T			ENST00000419165	NM_194324.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59172.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGATGCTGTC	NONE	.	.	.	.	.	ENSP00000455771	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000436583	Transcript	.	.	ENSG00000158427	28612	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TB15B_HUMAN	TMSB15B	HGNC	.	.	UPI000004716D	SNV	TMSB15B,3_prime_UTR_variant,,ENST00000569577,;TMSB15B,3_prime_UTR_variant,,ENST00000540220,;TMSB15B,3_prime_UTR_variant,,ENST00000419165,;TMSB15B,3_prime_UTR_variant,,ENST00000436583,;TMSB15B,intron_variant,,ENST00000563257,;TMSB15B,intron_variant,,ENST00000567181,;DPPA3P1,upstream_gene_variant,,ENST00000451146,;DPPA3P1,upstream_gene_variant,,ENST00000448050,;	1995	13	16	SUCCESS
SASH3	54440	.	GRCh37	X	128927908	128927908	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A6M4-01	TCGA-RC-A6M4-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	24	35	0	ENST00000356892.3:c.*100A>G			ENST00000356892	NM_018990.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14614.1	.	MUTECT|MUSE	.	CACTGAGCCTG	NONE	.	.	.	.	.	ENSP00000349359	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000356892	Transcript	.	.	ENSG00000122122	15975	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SASH3_HUMAN	SASH3	HGNC	.	.	UPI000006EC21	SNV	SASH3,3_prime_UTR_variant,,ENST00000356892,;RP4-753P9.3,upstream_gene_variant,,ENST00000432513,;	1357	35	48	SUCCESS
SACS	26278	.	GRCh37	13	23903686	23903686	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	5	57	0	ENST00000382292.3:c.*589A>G			ENST00000382292				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9300.2	.	MUTECT|MUSE	.	CACTCTAAAAA	NONE	.	.	.	.	.	ENSP00000371735	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000382298	Transcript	.	.	ENSG00000151835	10519	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SACS_HUMAN	SACS	HGNC	.	.	UPI000047039D	SNV	SACS,3_prime_UTR_variant,,ENST00000382292,;SACS,3_prime_UTR_variant,,ENST00000402364,;SACS,3_prime_UTR_variant,,ENST00000382298,;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;SGCG,downstream_gene_variant,,ENST00000537476,;SGCG,downstream_gene_variant,,ENST00000218867,;	14918	57	34	SUCCESS
ID1	3397	.	GRCh37	20	30194293	30194293	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	5	64	0	ENST00000376112.3:c.*396A>T			ENST00000376112	NM_002165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13185.1	.	MUTECT|MUSE	.	TTATTAAACAA	NONE	.	.	.	.	.	ENSP00000365280	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000376112	Transcript	.	.	ENSG00000125968	5360	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ID1_HUMAN	ID1	HGNC	.	.	UPI000012D18F	SNV	ID1,3_prime_UTR_variant,,ENST00000376112,;ID1,3_prime_UTR_variant,,ENST00000376105,;MIR3193,upstream_gene_variant,,ENST00000578262,;	969	64	73	SUCCESS
ZEB2	9839	.	GRCh37	2	145146295	145146295	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	7	28	0	ENST00000409487.3:c.*723C>G			ENST00000409487				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2186.1	.	MUTECT|MUSE	.	GGATGGCACTT	NONE	.	.	.	.	.	ENSP00000454157	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000558170	Transcript	.	.	ENSG00000169554	14881	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZEB2_HUMAN	ZEB2	HGNC	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN	.	UPI00001359A2	SNV	ZEB2,3_prime_UTR_variant,,ENST00000539609,;ZEB2,3_prime_UTR_variant,,ENST00000409487,;ZEB2,3_prime_UTR_variant,,ENST00000419938,;ZEB2,3_prime_UTR_variant,,ENST00000303660,;ZEB2,3_prime_UTR_variant,,ENST00000558170,;	5553	28	32	SUCCESS
SAR1B	51128	.	GRCh37	5	133942601	133942601	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-RC-A6M5-01	TCGA-RC-A6M5-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	7	79	0	ENST00000402673.2:c.*39T>G			ENST00000402673	NM_016103.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4177.1	.	MUTECT|MUSE|VARSCANS	.	GAGTAAGCCTG	NONE	.	.	.	.	.	ENSP00000385432	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000402673	Transcript	1	.	ENSG00000152700	10535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SAR1B_HUMAN	SAR1B	HGNC	Q9H029_HUMAN,D6RD69_HUMAN,D6RAA2_HUMAN,D6R9R5_HUMAN	.	UPI0000135569	SNV	SAR1B,3_prime_UTR_variant,,ENST00000507419,;SAR1B,3_prime_UTR_variant,,ENST00000502539,;SAR1B,3_prime_UTR_variant,,ENST00000402673,;SAR1B,3_prime_UTR_variant,,ENST00000439578,;SAR1B,downstream_gene_variant,,ENST00000509730,;SAR1B,downstream_gene_variant,,ENST00000502286,;SAR1B,downstream_gene_variant,,ENST00000509937,;SAR1B,downstream_gene_variant,,ENST00000505758,;SAR1B,non_coding_transcript_exon_variant,,ENST00000508363,;SAR1B,downstream_gene_variant,,ENST00000503318,;	915	79	89	SUCCESS
ZWINT	11130	.	GRCh37	10	58117894	58117894	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	33	19	69	0	ENST00000373944.3:c.*94C>G			ENST00000373944				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7249.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGGAGTTC	NONE	.	.	.	.	.	ENSP00000363055	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000373944	Transcript	.	.	ENSG00000122952	13195	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZWINT_HUMAN	ZWINT	HGNC	A6NH27_HUMAN	.	UPI000013CB09	SNV	ZWINT,3_prime_UTR_variant,,ENST00000395405,;ZWINT,3_prime_UTR_variant,,ENST00000373944,;ZWINT,3_prime_UTR_variant,,ENST00000318387,;ZWINT,downstream_gene_variant,,ENST00000361148,;ZWINT,non_coding_transcript_exon_variant,,ENST00000460654,;ZWINT,downstream_gene_variant,,ENST00000467523,;ZWINT,downstream_gene_variant,,ENST00000478181,;ZWINT,3_prime_UTR_variant,,ENST00000489649,;ZWINT,non_coding_transcript_exon_variant,,ENST00000494312,;	967	69	53	SUCCESS
TRIM48	79097	.	GRCh37	11	55038042	55038042	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	30	59	0	ENST00000417545.2:c.*131C>T			ENST00000417545	NM_024114.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7947.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTGCATGGG	NONE	.	.	.	.	.	ENSP00000402414	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000417545	Transcript	.	.	ENSG00000150244	19021	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI48_HUMAN	TRIM48	HGNC	.	.	UPI0000374413	SNV	TRIM48,3_prime_UTR_variant,,ENST00000417545,;RP11-72M10.2,downstream_gene_variant,,ENST00000526762,;	892	59	71	SUCCESS
KCNA1	3736	.	GRCh37	12	5023383	5023383	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	35	99	0	ENST00000382545.3:c.*1351T>G			ENST00000382545	NM_000217.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8535.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATGTGAAAA	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	3946	99	77	SUCCESS
KRT74	121391	.	GRCh37	12	52960639	52960639	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	21	32	0	ENST00000305620.2:c.*114A>G			ENST00000305620	NM_175053.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8832.1	.	MUTECT|MUSE	.	TTGAGTGTACT	NONE	.	.	.	.	.	ENSP00000307240	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000305620	Transcript	.	.	ENSG00000170484	28929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	K2C74_HUMAN	KRT74	HGNC	.	.	UPI00001AEDF9	SNV	KRT74,3_prime_UTR_variant,,ENST00000305620,;KRT74,3_prime_UTR_variant,,ENST00000549343,;KRT74,downstream_gene_variant,,ENST00000546384,;	1752	32	41	SUCCESS
ZBTB42	100128927	.	GRCh37	14	105270476	105270476	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs980372531	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	16	51	0	ENST00000342537.7:c.*1673C>T			ENST00000342537	NM_001137601.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45174.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	ATAATCGGGTG	NONE	.	.	.	.	.	ENSP00000409107	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342537	Transcript	.	.	ENSG00000179627	32550	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZBT42_HUMAN	ZBTB42	HGNC	.	.	UPI0001849D48	SNV	ZBTB42,3_prime_UTR_variant,,ENST00000342537,;ZBTB42,downstream_gene_variant,,ENST00000555360,;	3227	51	39	SUCCESS
VCPKMT	79609	.	GRCh37	14	50576389	50576389	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	17	42	0	ENST00000395860.2:c.*28T>C			ENST00000395860	NM_024558.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9696.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTTAGAGCC	NONE	.	.	.	.	.	ENSP00000379201	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000395860	Transcript	.	.	ENSG00000100483	20352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT21D_HUMAN	VCPKMT	HGNC	.	.	UPI000004C2A8	SNV	VCPKMT,3_prime_UTR_variant,,ENST00000395860,;VCPKMT,3_prime_UTR_variant,,ENST00000395859,;VCPKMT,3_prime_UTR_variant,,ENST00000491402,;VCPKMT,non_coding_transcript_exon_variant,,ENST00000484763,;VCPKMT,non_coding_transcript_exon_variant,,ENST00000569518,;	723	42	35	SUCCESS
NR2F2	7026	.	GRCh37	15	96880903	96880903	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	15	33	0	ENST00000394166.3:c.*52T>C			ENST00000394166	NM_021005.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10375.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGACTGGTTT	NONE	.	.	.	.	.	ENSP00000377721	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394166	Transcript	1	.	ENSG00000185551	7976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	COT2_HUMAN	NR2F2	HGNC	H3BTC2_HUMAN,F1D8R0_HUMAN	.	UPI000000052E	SNV	NR2F2,3_prime_UTR_variant,,ENST00000453270,;NR2F2,3_prime_UTR_variant,,ENST00000394166,;NR2F2,3_prime_UTR_variant,,ENST00000421109,;NR2F2,3_prime_UTR_variant,,ENST00000394171,;NR2F2,downstream_gene_variant,,ENST00000559679,;MIR1469,downstream_gene_variant,,ENST00000410719,;	2686	33	29	SUCCESS
RHBDL3	162494	.	GRCh37	17	30648368	30648368	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	32	0	ENST00000269051.4:c.*120G>T			ENST00000269051	NM_138328.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32613.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGCCACT	NONE	.	.	.	.	.	ENSP00000269051	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000269051	Transcript	.	.	ENSG00000141314	16502	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RHBL3_HUMAN	RHBDL3	HGNC	Q495Y4_HUMAN	.	UPI0000133858	SNV	RHBDL3,missense_variant,p.Ala412Ser,ENST00000431505,;RHBDL3,3_prime_UTR_variant,,ENST00000536287,;RHBDL3,3_prime_UTR_variant,,ENST00000538145,;RHBDL3,3_prime_UTR_variant,,ENST00000269051,;C17orf75,downstream_gene_variant,,ENST00000583104,;RP11-227G15.3,upstream_gene_variant,,ENST00000581915,;RP11-227G15.3,upstream_gene_variant,,ENST00000578389,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;	1349	32	31	SUCCESS
PLEKHH3	79990	.	GRCh37	17	40820119	40820120	+	3_prime_UTR_variant	3'UTR	INS	-	-	GG	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	12	0	ENST00000591022.1:c.*24_*25dup			ENST00000591022	NM_024927.4			0	.	.	.	.	.	GG	.	protein_coding	YES	CCDS11434.1	.	INDELOCATOR|VARSCANI	.	GCAGGAGGGAA	NONE	.	.	.	.	.	ENSP00000468678	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000591022	Transcript	.	.	ENSG00000068137	26105	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PKHH3_HUMAN	PLEKHH3	HGNC	.	.	UPI0000200DD6	insertion	PLEKHH3,3_prime_UTR_variant,,ENST00000412503,;PLEKHH3,3_prime_UTR_variant,,ENST00000591022,;PLEKHH3,3_prime_UTR_variant,,ENST00000293349,;TUBG2,downstream_gene_variant,,ENST00000251412,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000456950,;PLEKHH3,3_prime_UTR_variant,,ENST00000591196,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591476,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591490,;TUBG2,downstream_gene_variant,,ENST00000588870,;	2795-2796	12	15	SUCCESS
OSCAR	126014	.	GRCh37	19	54598293	54598293	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	4	9	0	ENST00000359649.4:c.*650C>A			ENST00000359649	NM_206818.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12876.1	.	MUTECT|MUSE	.	TAATCGCGTCT	NONE	.	.	.	.	.	ENSP00000352671	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000359649	Transcript	.	.	ENSG00000170909	29960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OSCAR_HUMAN	OSCAR	HGNC	.	.	UPI000034ECF7	SNV	OSCAR,3_prime_UTR_variant,,ENST00000284648,;OSCAR,3_prime_UTR_variant,,ENST00000351806,;OSCAR,3_prime_UTR_variant,,ENST00000356532,;OSCAR,3_prime_UTR_variant,,ENST00000359649,;OSCAR,3_prime_UTR_variant,,ENST00000391761,;OSCAR,3_prime_UTR_variant,,ENST00000358375,;OSCAR,downstream_gene_variant,,ENST00000391760,;	1534	9	19	SUCCESS
ZNF582	147948	.	GRCh37	19	56895202	56895202	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs756605918	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	68	24	76	0	ENST00000301310.4:c.*30T>A			ENST00000301310	NM_144690.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33121.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAAGAGGGAG	NONE	.	.	.	.	.	ENSP00000301310	.	5/5	.	.	.	.	.	.	.	.	rs756605918	5/5	PASS	ENST00000301310	Transcript	.	.	ENSG00000018869	26421	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN582_HUMAN	ZNF582	HGNC	B4DQZ9_HUMAN	.	UPI000006D278	SNV	ZNF582,3_prime_UTR_variant,,ENST00000586929,;ZNF582,3_prime_UTR_variant,,ENST00000301310,;ZNF582,intron_variant,,ENST00000589143,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF542,downstream_gene_variant,,ENST00000467807,;ZNF542,downstream_gene_variant,,ENST00000495307,;ZNF542,downstream_gene_variant,,ENST00000490123,;ZNF582,downstream_gene_variant,,ENST00000593145,;ZNF582,downstream_gene_variant,,ENST00000587778,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;	1743	76	92	SUCCESS
CDC42EP1	11135	.	GRCh37	22	37964987	37964987	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	19	0	ENST00000249014.4:c.*160G>C			ENST00000249014	NM_152243.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13949.1	.	MUTECT|MUSE	.	GCCAGGCTTGC	NONE	.	.	.	.	.	ENSP00000249014	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000249014	Transcript	.	.	ENSG00000128283	17014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BORG5_HUMAN	CDC42EP1	HGNC	B0QYC8_HUMAN,B0QYC7_HUMAN,B0QYC6_HUMAN	.	UPI000012F5E7	SNV	CDC42EP1,3_prime_UTR_variant,,ENST00000249014,;CDC42EP1,downstream_gene_variant,,ENST00000434728,;LGALS2,downstream_gene_variant,,ENST00000416480,;CDC42EP1,downstream_gene_variant,,ENST00000415670,;LGALS2,downstream_gene_variant,,ENST00000215886,;CDC42EP1,downstream_gene_variant,,ENST00000430687,;	1756	19	10	SUCCESS
GPD2	2820	.	GRCh37	2	157439524	157439524	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	28	0	ENST00000310454.6:c.*94G>A			ENST00000310454	NM_001083112.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2202.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGAATGTGGAT	NONE	.	.	.	.	.	ENSP00000308610	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000310454	Transcript	.	.	ENSG00000115159	4456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPDM_HUMAN	GPD2	HGNC	Q53T76_HUMAN,Q53RD0_HUMAN,F8W6E4_HUMAN,F5GYK7_HUMAN,E7EM56_HUMAN	.	UPI000013F012	SNV	GPD2,3_prime_UTR_variant,,ENST00000310454,;GPD2,3_prime_UTR_variant,,ENST00000409674,;GPD2,3_prime_UTR_variant,,ENST00000438166,;GPD2,3_prime_UTR_variant,,ENST00000540309,;GPD2,3_prime_UTR_variant,,ENST00000409125,;GPD2,non_coding_transcript_exon_variant,,ENST00000496190,;GPD2,non_coding_transcript_exon_variant,,ENST00000492005,;GPD2,intron_variant,,ENST00000409861,;GPD2,downstream_gene_variant,,ENST00000464846,;	2650	28	17	SUCCESS
XIRP2	129446	.	GRCh37	2	168110643	168110643	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	190	96	270	0	ENST00000409195.1:c.*7C>A			ENST00000409195	NM_152381.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42769.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCTGCTTCCG	NONE	.	.	.	.	.	ENSP00000386840	.	10/11	.	.	.	.	.	.	.	.	.	10/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,stop_gained,p.Cys204Ter,ENST00000409605,;XIRP2,stop_gained,p.Cys459Ter,ENST00000420519,;XIRP2,stop_gained,p.Cys426Ter,ENST00000409756,;XIRP2,stop_gained,p.Cys426Ter,ENST00000409043,;XIRP2,stop_gained,p.Cys459Ter,ENST00000409728,;XIRP2,3_prime_UTR_variant,,ENST00000409273,;XIRP2,3_prime_UTR_variant,,ENST00000409195,;XIRP2,3_prime_UTR_variant,,ENST00000295237,;	10746	270	286	SUCCESS
XIRP2	129446	.	GRCh37	2	168115877	168115877	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1196761242	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	36	14	38	0	ENST00000409195.1:c.*1550A>G			ENST00000409195	NM_152381.5			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42769.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATATCTAT	NONE	.	.	.	.	.	ENSP00000386840	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000409195	Transcript	.	.	ENSG00000163092	14303	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	XIRP2	HGNC	J3KNB1_HUMAN	.	UPI0000E9BBED	SNV	XIRP2,3_prime_UTR_variant,,ENST00000409605,;XIRP2,3_prime_UTR_variant,,ENST00000409273,;XIRP2,3_prime_UTR_variant,,ENST00000409195,;XIRP2,3_prime_UTR_variant,,ENST00000409756,;XIRP2,3_prime_UTR_variant,,ENST00000409043,;XIRP2,3_prime_UTR_variant,,ENST00000409728,;XIRP2,3_prime_UTR_variant,,ENST00000295237,;XIRP2,downstream_gene_variant,,ENST00000420519,;	12289	38	50	SUCCESS
CTDSP1	58190	.	GRCh37	2	219269248	219269248	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs186725248	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	6	10	0	ENST00000273062.2:c.*100G>A			ENST00000273062	NM_021198.2			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS2416.1	.	RADIA|MUTECT|MUSE	.	CCGCCGCCACA	NONE	by1000G	.	.	A:0	.	ENSP00000273062	A:0	7/7	.	.	.	.	.	.	.	.	rs186725248	7/7	PASS	ENST00000273062	Transcript	.	A:0.0002	ENSG00000144579	21614	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	CTDS1_HUMAN	CTDSP1	HGNC	.	.	UPI000013007C	SNV	CTDSP1,3_prime_UTR_variant,,ENST00000273062,;CTDSP1,3_prime_UTR_variant,,ENST00000443891,;CTDSP1,downstream_gene_variant,,ENST00000452977,;CTDSP1,downstream_gene_variant,,ENST00000431127,;CTDSP1,downstream_gene_variant,,ENST00000428361,;MIR26B,downstream_gene_variant,,ENST00000362251,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000464255,;CTDSP1,non_coding_transcript_exon_variant,,ENST00000488627,;CTDSP1,downstream_gene_variant,,ENST00000491064,;CTDSP1,downstream_gene_variant,,ENST00000473420,;CTDSP1,downstream_gene_variant,,ENST00000496785,;CTDSP1,downstream_gene_variant,,ENST00000492545,;CTDSP1,downstream_gene_variant,,ENST00000498160,;CTDSP1,downstream_gene_variant,,ENST00000482272,;CTDSP1,downstream_gene_variant,,ENST00000494067,;CTDSP1,downstream_gene_variant,,ENST00000497677,;	1222	10	13	SUCCESS
CHL1	10752	.	GRCh37	3	447470	447470	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	23	29	0	ENST00000397491.2:c.*76C>A			ENST00000397491				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2556.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTTCATATA	NONE	.	.	.	.	.	ENSP00000256509	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000256509	Transcript	.	.	ENSG00000134121	1939	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHL1_HUMAN	CHL1	HGNC	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN	.	UPI000013CF0F	SNV	CHL1,3_prime_UTR_variant,,ENST00000397491,;CHL1,3_prime_UTR_variant,,ENST00000256509,;CHL1,downstream_gene_variant,,ENST00000445697,;	4393	29	32	SUCCESS
AADAT	51166	.	GRCh37	4	170981932	170981932	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000337664.4:c.*147G>T			ENST00000337664	NM_016228.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3814.1	.	RADIA|MUTECT|MUSE	.	CAGGCCAGAGT	NONE	.	.	.	.	.	ENSP00000336808	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000337664	Transcript	.	.	ENSG00000109576	17929	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	AADAT_HUMAN	AADAT	HGNC	Q4W5N8_HUMAN,D6RFY7_HUMAN,D6RC56_HUMAN	.	UPI00000711E6	SNV	AADAT,3_prime_UTR_variant,,ENST00000337664,;AADAT,3_prime_UTR_variant,,ENST00000353187,;AADAT,3_prime_UTR_variant,,ENST00000509167,;AADAT,3_prime_UTR_variant,,ENST00000515480,;	1702	11	12	SUCCESS
C5orf24	134553	.	GRCh37	5	134192206	134192206	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs530807804	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	17	42	0	ENST00000338051.4:c.*1049C>G			ENST00000338051	NM_152409.3			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS4179.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGCCTGTAA	NONE	by1000G	.	.	T:0.001	.	ENSP00000378427	T:0	2/2	.	.	.	.	.	.	.	.	rs530807804	2/2	PASS	ENST00000394976	Transcript	.	T:0.0002	ENSG00000181904	26746	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	CE024_HUMAN	C5orf24	HGNC	.	.	UPI000013FCBD	SNV	C5orf24,3_prime_UTR_variant,,ENST00000394976,;C5orf24,3_prime_UTR_variant,,ENST00000338051,;C5orf24,intron_variant,,ENST00000504727,;C5orf24,intron_variant,,ENST00000507390,;C5orf24,downstream_gene_variant,,ENST00000508791,;C5orf24,downstream_gene_variant,,ENST00000435259,;DDX46,downstream_gene_variant,,ENST00000507053,;	1844	42	52	SUCCESS
IRX2	153572	.	GRCh37	5	2747422	2747422	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs543782236	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	12	0	ENST00000302057.5:c.*256A>G			ENST00000302057	NM_033267.4			0	.	C:0.0439	.	C:0.0072	.	C	.	protein_coding	YES	CCDS3868.1	.	MUTECT|MUSE	.	ACACATATATA	NONE	byFrequency|byCluster|by1000G	.	.	C:0.0159	.	ENSP00000372056	C:0.0109	.	.	.	.	.	.	.	.	.	rs543782236	.	PASS	ENST00000382611	Transcript	.	C:0.0214	ENSG00000170561	14359	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	C:0.0174	.	.	IRX2_HUMAN	IRX2	HGNC	.	.	UPI00001B6456	SNV	IRX2,3_prime_UTR_variant,,ENST00000302057,;IRX2,intron_variant,,ENST00000382611,;C5orf38,upstream_gene_variant,,ENST00000334000,;C5orf38,upstream_gene_variant,,ENST00000457752,;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000515640,;IRX2,downstream_gene_variant,,ENST00000502957,;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	.	12	8	SUCCESS
FUT9	10690	.	GRCh37	6	96661535	96661535	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	48	151	0	ENST00000302103.5:c.*9424G>T			ENST00000302103	NM_006581.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAGGGTTAT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	10830	151	110	SUCCESS
PLXNA4	91584	.	GRCh37	7	131815030	131815030	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	8	0	ENST00000321063.4:c.*208C>A			ENST00000321063	NM_020911.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43646.1	.	MUTECT|MUSE	.	GGCTTGGTCCA	NONE	.	.	.	.	.	ENSP00000352882	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000359827	Transcript	.	.	ENSG00000221866	9102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PLXA4_HUMAN	PLXNA4	HGNC	.	.	UPI000004E55B	SNV	PLXNA4,3_prime_UTR_variant,,ENST00000321063,;PLXNA4,3_prime_UTR_variant,,ENST00000359827,;	6856	8	9	SUCCESS
AVL9	23080	.	GRCh37	7	32623585	32623585	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs772279374	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	80	54	167	0	ENST00000318709.4:c.*66A>T			ENST00000318709	NM_015060.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34613.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCCAGGCTG	NONE	.	.	.	.	.	ENSP00000315568	.	16/16	.	.	.	.	.	.	.	.	rs772279374	16/16	PASS	ENST00000318709	Transcript	.	.	ENSG00000105778	28994	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AVL9_HUMAN	AVL9	HGNC	.	.	UPI0000049D97	SNV	AVL9,missense_variant,p.Gln545Leu,ENST00000446718,;AVL9,3_prime_UTR_variant,,ENST00000318709,;AVL9,3_prime_UTR_variant,,ENST00000409301,;AVL9,intron_variant,,ENST00000404479,;AVL9,non_coding_transcript_exon_variant,,ENST00000470500,;AVL9,non_coding_transcript_exon_variant,,ENST00000467779,;AVL9,non_coding_transcript_exon_variant,,ENST00000497020,;DPY19L1P1,intron_variant,,ENST00000417811,;	2234	167	135	SUCCESS
HEPACAM2	253012	.	GRCh37	7	92818525	92818525	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	62	93	134	0	ENST00000394468.2:c.*55G>A			ENST00000394468	NM_001039372.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43616.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTCCTTAA	NONE	.	.	.	.	.	ENSP00000377980	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000394468	Transcript	.	.	ENSG00000188175	27364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HECA2_HUMAN	HEPACAM2	HGNC	.	.	UPI000013DA71	SNV	HEPACAM2,3_prime_UTR_variant,,ENST00000394468,;HEPACAM2,3_prime_UTR_variant,,ENST00000440868,;HEPACAM2,3_prime_UTR_variant,,ENST00000453812,;HEPACAM2,3_prime_UTR_variant,,ENST00000341723,;HEPACAM2,non_coding_transcript_exon_variant,,ENST00000492616,;	1522	134	155	SUCCESS
GRHL2	79977	.	GRCh37	8	102679003	102679003	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	41	40	0	ENST00000251808.3:c.*72C>G			ENST00000251808	NM_024915.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34931.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGCCCCAGA	NONE	.	.	.	.	.	ENSP00000251808	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000251808	Transcript	1	.	ENSG00000083307	2799	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRHL2_HUMAN	GRHL2	HGNC	.	.	UPI000013CD16	SNV	GRHL2,3_prime_UTR_variant,,ENST00000251808,;GRHL2,3_prime_UTR_variant,,ENST00000395927,;GRHL2,downstream_gene_variant,,ENST00000517674,;GRHL2,downstream_gene_variant,,ENST00000474338,;	2288	40	81	SUCCESS
KCNS2	3788	.	GRCh37	8	99441726	99441726	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-RC-A6M6-01	TCGA-RC-A6M6-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	60	56	0	ENST00000287042.4:c.*85T>A			ENST00000287042	NM_020697.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6279.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGGTGTAAG	NONE	.	.	.	.	.	ENSP00000287042	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000287042	Transcript	.	.	ENSG00000156486	6301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNS2_HUMAN	KCNS2	HGNC	.	.	UPI0000001653	SNV	KCNS2,3_prime_UTR_variant,,ENST00000287042,;KCNS2,3_prime_UTR_variant,,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	1869	56	129	SUCCESS
DPH6	89978	.	GRCh37	15	35664124	35664124	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs115619976	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	7	98	0	ENST00000256538.4:c.*227C>T			ENST00000256538	NM_080650.3			0	.	A:0.0333	.	A:0.0029	.	A	.	protein_coding	YES	CCDS10043.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAACGAAAGA	NONE	byFrequency|byCluster|by1000G	.	.	A:0	.	ENSP00000256538	A:0	9/9	.	.	.	.	.	.	.	.	rs115619976	9/9	PASS	ENST00000256538	Transcript	.	A:0.0092	ENSG00000134146	30543	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0	.	.	DPH6_HUMAN	DPH6	HGNC	H0YND7_HUMAN	.	UPI000007296C	SNV	DPH6,3_prime_UTR_variant,,ENST00000256538,;DPH6,downstream_gene_variant,,ENST00000558266,;MIR3942,downstream_gene_variant,,ENST00000585264,;DPH6,intron_variant,,ENST00000560386,;DPH6,intron_variant,,ENST00000558973,;	1058	98	58	SUCCESS
SPPL2A	84888	.	GRCh37	15	50999898	50999898	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	12	47	0	ENST00000261854.5:c.*99del			ENST00000261854	NM_032802.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS10138.1	.	INDELOCATOR*|PINDEL	.	CATATCATTGAA	NONE	.	.	.	.	.	ENSP00000261854	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000261854	Transcript	.	.	ENSG00000138600	30227	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPP2A_HUMAN	SPPL2A	HGNC	H0YNA7_HUMAN	.	UPI0000013591	deletion	SPPL2A,3_prime_UTR_variant,,ENST00000558934,;SPPL2A,3_prime_UTR_variant,,ENST00000261854,;	1937	47	40	SUCCESS
GLG1	2734	.	GRCh37	16	74486093	74486093	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	rs879190793	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	18	3	ENST00000422840.2:c.*972T>G			ENST00000422840	NM_001145667.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32485.1	.	MUTECT|MUSE	.	CCCACACCCAT	NONE	.	.	.	.	.	ENSP00000205061	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000205061	Transcript	.	.	ENSG00000090863	4316	.	.	MODIFIER	26/26	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GSLG1_HUMAN	GLG1	HGNC	Q6ZMF1_HUMAN,H3BQT1_HUMAN	.	UPI00001FFBD9	SNV	GLG1,3_prime_UTR_variant,,ENST00000422840,;GLG1,intron_variant,,ENST00000205061,;GLG1,intron_variant,,ENST00000447066,;RNU6-237P,upstream_gene_variant,,ENST00000515985,;RP11-252A24.7,upstream_gene_variant,,ENST00000566788,;GLG1,downstream_gene_variant,,ENST00000562090,;GLG1,downstream_gene_variant,,ENST00000567951,;GLG1,downstream_gene_variant,,ENST00000561942,;	.	21	24	SUCCESS
CCL8	6355	.	GRCh37	17	32648057	32648057	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	31	0	ENST00000394620.1:c.*131C>T			ENST00000394620	NM_005623.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11280.1	.	MUTECT|MUSE	.	TAAAGCATAAT	NONE	.	.	.	.	.	ENSP00000378118	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000394620	Transcript	.	.	ENSG00000108700	10635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCL8_HUMAN	CCL8	HGNC	H0UIC7_HUMAN	.	UPI000002FE45	SNV	CCL8,3_prime_UTR_variant,,ENST00000394620,;	897	31	17	SUCCESS
PRCD	768206	.	GRCh37	17	74539165	74539165	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs556725780	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	14	57	0	ENST00000586148.1:c.*109C>A			ENST00000586148				0	.	T:0	.	T:0.0014	.	A	.	protein_coding	YES	CCDS42382.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGGCAA	NONE	by1000G	.	.	T:0	.	ENSP00000465932	T:0	4/4	.	.	.	.	.	.	.	.	rs556725780	4/4	PASS	ENST00000586148	Transcript	.	T:0.0002	ENSG00000214140	32528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PRCD_HUMAN	PRCD	HGNC	.	.	UPI000047DE08	SNV	PRCD,3_prime_UTR_variant,,ENST00000592014,;PRCD,3_prime_UTR_variant,,ENST00000586148,;CYGB,intron_variant,,ENST00000589145,;RP11-666A8.8,downstream_gene_variant,,ENST00000589963,;PRCD,non_coding_transcript_exon_variant,,ENST00000587289,;PRCD,non_coding_transcript_exon_variant,,ENST00000465808,;PRCD,non_coding_transcript_exon_variant,,ENST00000590555,;PRCD,non_coding_transcript_exon_variant,,ENST00000592340,;PRCD,non_coding_transcript_exon_variant,,ENST00000397633,;PRCD,non_coding_transcript_exon_variant,,ENST00000592432,;PRCD,intron_variant,,ENST00000587813,;PRCD,upstream_gene_variant,,ENST00000591317,;PRCD,upstream_gene_variant,,ENST00000593023,;PRCD,upstream_gene_variant,,ENST00000587063,;PRCD,non_coding_transcript_exon_variant,,ENST00000397630,;	326	57	37	SUCCESS
ADCYAP1	116	.	GRCh37	18	909772	909772	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	50	0	ENST00000450565.3:c.*136T>C			ENST00000450565	NM_001099733.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11825.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAATATTTT	NONE	.	.	.	.	.	ENSP00000462647	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000579794	Transcript	.	.	ENSG00000141433	241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PACA_HUMAN	ADCYAP1	HGNC	Q53BH6_HUMAN,Q53BH1_HUMAN,B7Z222_HUMAN	.	UPI000013D805	SNV	ADCYAP1,3_prime_UTR_variant,,ENST00000579794,;ADCYAP1,3_prime_UTR_variant,,ENST00000450565,;RP11-672L10.3,upstream_gene_variant,,ENST00000582554,;RP11-672L10.2,upstream_gene_variant,,ENST00000580612,;RP11-672L10.2,upstream_gene_variant,,ENST00000577358,;RP11-672L10.2,upstream_gene_variant,,ENST00000581719,;ADCYAP1,non_coding_transcript_exon_variant,,ENST00000581602,;ADCYAP1,downstream_gene_variant,,ENST00000269200,;	945	50	30	SUCCESS
PPP5C	5536	.	GRCh37	19	46893621	46893621	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1601451134	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	49	18	56	0	ENST00000012443.4:c.*18C>T			ENST00000012443	NM_006247.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12684.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCGGCCTGCA	NONE	.	.	.	.	.	ENSP00000012443	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000012443	Transcript	.	.	ENSG00000011485	9322	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPP5_HUMAN	PPP5C	HGNC	B4DDZ8_HUMAN	.	UPI0000041859	SNV	PPP5C,3_prime_UTR_variant,,ENST00000391919,;PPP5C,3_prime_UTR_variant,,ENST00000012443,;AC007193.8,downstream_gene_variant,,ENST00000598616,;PPP5C,non_coding_transcript_exon_variant,,ENST00000527623,;PPP5C,non_coding_transcript_exon_variant,,ENST00000525507,;PPP5C,non_coding_transcript_exon_variant,,ENST00000486994,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,intron_variant,,ENST00000478046,;PPP5C,downstream_gene_variant,,ENST00000492109,;PPP5C,downstream_gene_variant,,ENST00000491003,;PPP5C,downstream_gene_variant,,ENST00000493347,;PPP5C,downstream_gene_variant,,ENST00000467502,;	1621	56	68	SUCCESS
NRXN1	9378	.	GRCh37	2	50149064	50149064	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs201303041	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	17	58	0	ENST00000406316.2:c.*18G>A			ENST00000406316	NM_004801.4			0	G:0	.	.	.	.	T	.	protein_coding	YES	CCDS46282.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTGTCCATTT	NONE	byFrequency|byCluster	.	.	.	G:0.0002	ENSP00000385142	.	24/24	.	.	.	.	.	.	.	.	rs201303041	24/24	PASS	ENST00000404971	Transcript	.	.	ENSG00000179915	8008	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NRX1A_HUMAN	NRXN1	HGNC	Q08AH0_HUMAN	.	UPI00015A218A	SNV	NRXN1,3_prime_UTR_variant,,ENST00000405472,;NRXN1,3_prime_UTR_variant,,ENST00000401710,;NRXN1,3_prime_UTR_variant,,ENST00000404971,;NRXN1,3_prime_UTR_variant,,ENST00000406316,;NRXN1,3_prime_UTR_variant,,ENST00000378262,;NRXN1,3_prime_UTR_variant,,ENST00000401669,;NRXN1,3_prime_UTR_variant,,ENST00000412315,;NRXN1,3_prime_UTR_variant,,ENST00000342183,;NRXN1,downstream_gene_variant,,ENST00000406859,;NRXN1,downstream_gene_variant,,ENST00000402717,;NRXN1,non_coding_transcript_exon_variant,,ENST00000484192,;	6002	58	51	SUCCESS
IMPDH2	3615	.	GRCh37	3	49066899	49066899	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs1326968288	.	TCGA-RC-A7S9-01	TCGA-RC-A7S9-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	6	10	0				ENST00000326739	NM_000884.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2786.1	.	MUTECT|MUSE	.	CGCTGACGTCA	NONE	.	76	.	.	.	ENSP00000321584	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326739	Transcript	.	.	ENSG00000178035	6053	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IMDH2_HUMAN	IMPDH2	HGNC	Q6RUP9_HUMAN,Q6RUP8_HUMAN	.	UPI000004A47A	SNV	IMPDH2,upstream_gene_variant,,ENST00000326739,;QRICH1,downstream_gene_variant,,ENST00000424300,;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;QRICH1,downstream_gene_variant,,ENST00000357496,;QRICH1,downstream_gene_variant,,ENST00000395443,;RP13-131K19.6,non_coding_transcript_exon_variant,,ENST00000607245,;QRICH1,downstream_gene_variant,,ENST00000477021,;QRICH1,downstream_gene_variant,,ENST00000479449,;QRICH1,downstream_gene_variant,,ENST00000498440,;IMPDH2,upstream_gene_variant,,ENST00000463903,;IMPDH2,upstream_gene_variant,,ENST00000484872,;IMPDH2,upstream_gene_variant,,ENST00000481274,;QRICH1,downstream_gene_variant,,ENST00000469910,;IMPDH2,upstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000466147,;QRICH1,downstream_gene_variant,,ENST00000489642,;IMPDH2,upstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000472328,;IMPDH2,upstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000462980,;QRICH1,downstream_gene_variant,,ENST00000498392,;	.	10	11	SUCCESS
SDHD	6392	.	GRCh37	11	111965757	111965757	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	6	16	0	ENST00000375549.3:c.*63A>G			ENST00000375549	NM_003002.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31678.1	.	MUTECT|MUSE	.	ATGCCATTAAG	NONE	.	.	.	.	.	ENSP00000364699	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000375549	Transcript	.	.	ENSG00000204370	10683	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DHSD_HUMAN	SDHD	HGNC	G3V173_HUMAN	.	UPI0000129396	SNV	SDHD,3_prime_UTR_variant,,ENST00000528182,;SDHD,3_prime_UTR_variant,,ENST00000526592,;SDHD,3_prime_UTR_variant,,ENST00000375549,;SDHD,3_prime_UTR_variant,,ENST00000525291,;SDHD,3_prime_UTR_variant,,ENST00000528048,;SDHD,intron_variant,,ENST00000528021,;SDHD,3_prime_UTR_variant,,ENST00000530923,;SDHD,intron_variant,,ENST00000532699,;SDHD,intron_variant,,ENST00000525987,;SDHD,intron_variant,,ENST00000534010,;SDHD,intron_variant,,ENST00000531744,;	678	16	8	SUCCESS
KCNJ16	3773	.	GRCh37	17	68131500	68131500	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs1221993236	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	85	57	178	0	ENST00000283936.1:c.*2015T>A			ENST00000283936	NM_018658.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11687.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTTGCTT	NONE	.	.	.	.	.	ENSP00000376438	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392670	Transcript	.	.	ENSG00000153822	6262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK16_HUMAN	KCNJ16	HGNC	K7ELL5_HUMAN,K7EKJ4_HUMAN	.	UPI000012D8B3	SNV	KCNJ16,3_prime_UTR_variant,,ENST00000283936,;KCNJ16,3_prime_UTR_variant,,ENST00000589377,;KCNJ16,3_prime_UTR_variant,,ENST00000392671,;KCNJ16,3_prime_UTR_variant,,ENST00000585558,;KCNJ16,3_prime_UTR_variant,,ENST00000392670,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000586462,;KCNJ16,downstream_gene_variant,,ENST00000591891,;KCNJ16,downstream_gene_variant,,ENST00000587892,;	3765	178	142	SUCCESS
KBTBD11	9920	.	GRCh37	8	1952245	1952245	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	127	34	163	1	ENST00000320248.3:c.*1015G>A			ENST00000320248	NM_014867.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34795.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAGGGAGATT	NONE	.	.	.	.	.	ENSP00000321544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320248	Transcript	.	.	ENSG00000176595	29104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTBB_HUMAN	KBTBD11	HGNC	.	.	UPI0000139C1D	SNV	KBTBD11,3_prime_UTR_variant,,ENST00000320248,;	3853	164	162	SUCCESS
TOR4A	54863	.	GRCh37	9	140176281	140176281	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A7SB-01	TCGA-RC-A7SB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	27	0	ENST00000357503.2:c.*1868C>A			ENST00000357503	NM_017723.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7041.1	.	MUTECT|MUSE	.	CCCAACCCCAG	NONE	.	.	.	.	.	ENSP00000350102	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000357503	Transcript	.	.	ENSG00000198113	25981	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TOR4A_HUMAN	TOR4A	HGNC	.	.	UPI00004577EC	SNV	TOR4A,3_prime_UTR_variant,,ENST00000357503,;RP13-122B23.9,upstream_gene_variant,,ENST00000605600,;	3336	27	12	SUCCESS
MYOF	26509	.	GRCh37	10	95241980	95241980	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	43	0				ENST00000359263	NM_013451.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41551.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTCAGCAAA	NONE	.	29	.	.	.	ENSP00000352208	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000359263	Transcript	.	.	ENSG00000138119	3656	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYOF_HUMAN	MYOF	HGNC	.	.	UPI000012FBA1	SNV	MYOF,5_prime_UTR_variant,,ENST00000371502,;MYOF,5_prime_UTR_variant,,ENST00000371489,;MYOF,5_prime_UTR_variant,,ENST00000371501,;MYOF,upstream_gene_variant,,ENST00000358334,;MYOF,upstream_gene_variant,,ENST00000371488,;MYOF,upstream_gene_variant,,ENST00000359263,;MYOF,upstream_gene_variant,,ENST00000488645,;	.	43	24	SUCCESS
ZCCHC8	55596	.	GRCh37	12	122957905	122957906	+	3_prime_UTR_variant	3'UTR	INS	-	-	TTGA	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	19	16	71	0	ENST00000336229.4:c.*135_*138dup			ENST00000336229	NM_017612.3			0	.	.	.	.	.	TTGA	.	protein_coding	YES	.	.	INDELOCATOR*|PINDEL	.	ATAGGCTTGAC	NONE	.	.	.	.	.	ENSP00000337313	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000336229	Transcript	.	.	ENSG00000033030	25265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZCHC8_HUMAN	ZCCHC8	HGNC	F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN	.	UPI00001E0582	insertion	ZCCHC8,3_prime_UTR_variant,,ENST00000538116,;ZCCHC8,3_prime_UTR_variant,,ENST00000543897,;ZCCHC8,3_prime_UTR_variant,,ENST00000536306,;ZCCHC8,3_prime_UTR_variant,,ENST00000336229,;ZCCHC8,downstream_gene_variant,,ENST00000536663,;ZCCHC8,downstream_gene_variant,,ENST00000542892,;ZCCHC8,downstream_gene_variant,,ENST00000544054,;	2393-2394	71	35	SUCCESS
GALNT7	51809	.	GRCh37	4	174242872	174242873	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs1409972965	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	24	19	55	0	ENST00000265000.4:c.*11dup			ENST00000265000	NM_017423.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3815.1	.	INDELOCATOR|VARSCANI	.	AGAGAGAAAAA	NONE	.	.	.	.	.	ENSP00000265000	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000265000	Transcript	.	.	ENSG00000109586	4129	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GALT7_HUMAN	GALNT7	HGNC	Q4W5F7_HUMAN	.	UPI000000DB3C	insertion	GALNT7,3_prime_UTR_variant,,ENST00000265000,;GALNT7,3_prime_UTR_variant,,ENST00000505308,;GALNT7,downstream_gene_variant,,ENST00000503213,;RP11-798M19.3,downstream_gene_variant,,ENST00000507803,;GALNT7,non_coding_transcript_exon_variant,,ENST00000515862,;	2061-2062	55	43	SUCCESS
NMUR2	56923	.	GRCh37	5	151771628	151771628	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	9	38	0	ENST00000255262.3:c.*124A>G			ENST00000255262	NM_020167.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4321.1	.	MUTECT|MUSE	.	AAAACTAGCAA	NONE	.	.	.	.	.	ENSP00000255262	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000255262	Transcript	.	.	ENSG00000132911	16454	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NMUR2_HUMAN	NMUR2	HGNC	.	.	UPI000013CE9D	SNV	NMUR2,3_prime_UTR_variant,,ENST00000255262,;NMUR2,downstream_gene_variant,,ENST00000518933,;	1538	38	36	SUCCESS
TMEM14C	51522	.	GRCh37	6	10731039	10731039	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	12	0	ENST00000229563.5:c.*140G>C			ENST00000229563	NM_016462.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4514.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGAGAGGTG	NONE	.	.	.	.	.	ENSP00000444561	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000541412	Transcript	.	.	ENSG00000111843	20952	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TM14C_HUMAN	TMEM14C	HGNC	.	.	UPI000003BBD6	SNV	TMEM14C,3_prime_UTR_variant,,ENST00000541412,;TMEM14C,3_prime_UTR_variant,,ENST00000229563,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000467415,;TMEM14C,downstream_gene_variant,,ENST00000466421,;TMEM14C,downstream_gene_variant,,ENST00000495549,;	864	12	16	SUCCESS
TSPYL1	7259	.	GRCh37	6	116601345	116601345	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-RC-A7SF-01	TCGA-RC-A7SF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	21	0				ENST00000368608	NM_003309.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34518.1	.	MUTECT|MUSE	.	GTAAAATCACA	NONE	.	279	.	.	.	ENSP00000357597	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000368608	Transcript	.	.	ENSG00000189241	12382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSYL1_HUMAN	TSPYL1	HGNC	.	.	UPI000006EE16	SNV	DSE,5_prime_UTR_variant,,ENST00000452085,;DSE,intron_variant,,ENST00000540275,;DSE,intron_variant,,ENST00000430252,;TSPYL1,upstream_gene_variant,,ENST00000368608,;RP1-93H18.1,upstream_gene_variant,,ENST00000453463,;RP1-93H18.1,upstream_gene_variant,,ENST00000449314,;DSE,intron_variant,,ENST00000607094,;	.	21	15	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	14	29	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	29	35	SUCCESS
H2AFJ	0	.	GRCh37	12	14929035	14929035	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	68	54	124	0	ENST00000544848.1:c.*1241G>A			ENST00000544848	NM_177925.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31752.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTGGATTCA	NONE	.	.	.	.	.	ENSP00000438553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000544848	Transcript	.	.	ENSG00000246705	14456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	SNV	H2AFJ,3_prime_UTR_variant,,ENST00000544848,;HIST4H4,upstream_gene_variant,,ENST00000539745,;H2AFJ,3_prime_UTR_variant,,ENST00000501744,;H2AFJ,downstream_gene_variant,,ENST00000389078,;HIST4H4,upstream_gene_variant,,ENST00000358064,;	1766	124	122	SUCCESS
LDLRAD4	753	.	GRCh37	18	13645817	13645817	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	7	12	0	ENST00000359446.5:c.*161A>G			ENST00000359446	NM_181481.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32793.1	.	RADIA|MUTECT|MUSE	.	ATTGCATGCAA	NONE	.	.	.	.	.	ENSP00000354753	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000361205	Transcript	.	.	ENSG00000168675	1224	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LRAD4_HUMAN	LDLRAD4	HGNC	K7EMG1_HUMAN,K7EKD6_HUMAN,K7EJM9_HUMAN	.	UPI0000126BCF	SNV	LDLRAD4,3_prime_UTR_variant,,ENST00000361205,;LDLRAD4,3_prime_UTR_variant,,ENST00000359446,;LDLRAD4,3_prime_UTR_variant,,ENST00000399848,;LDLRAD4,3_prime_UTR_variant,,ENST00000585931,;LDLRAD4,downstream_gene_variant,,ENST00000587757,;LDLRAD4,downstream_gene_variant,,ENST00000592991,;LDLRAD4,downstream_gene_variant,,ENST00000586765,;RP11-701H16.4,upstream_gene_variant,,ENST00000588397,;LDLRAD4,downstream_gene_variant,,ENST00000586207,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000435606,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000361303,;	1750	12	12	SUCCESS
POMGNT1	55624	.	GRCh37	1	46654650	46654653	+	3_prime_UTR_variant	3'UTR	DEL	GGCC	GGCC	-	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	GGCC	GGCC	.	.	.	.	.	.	.	.	.	.	.	.	.	4	23	39	0	ENST00000371984.3:c.*289_*292del			ENST00000371984	NM_017739.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS57995.1	?-1988	INDELOCATOR|VARSCANI	.	GAGCCAGGCCTGGAA	NONE	.	.	.	.	.	ENSP00000361060	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000371992	Transcript	.	.	ENSG00000085998	19139	.	.	HIGH	22/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	POMGNT1	HGNC	Q5VST3_HUMAN	.	UPI0000458AF4	deletion	POMGNT1,splice_acceptor_variant,,ENST00000535522,;POMGNT1,splice_acceptor_variant,,ENST00000371986,;POMGNT1,splice_acceptor_variant,,ENST00000371992,;POMGNT1,3_prime_UTR_variant,,ENST00000396420,;POMGNT1,3_prime_UTR_variant,,ENST00000371984,;TSPAN1,downstream_gene_variant,,ENST00000372003,;POMGNT1,splice_acceptor_variant,,ENST00000475642,;TSPAN1,downstream_gene_variant,,ENST00000469330,;POMGNT1,downstream_gene_variant,,ENST00000477114,;TSPAN1,downstream_gene_variant,,ENST00000482928,;TSPAN1,downstream_gene_variant,,ENST00000472170,;TSPAN1,downstream_gene_variant,,ENST00000470318,;TSPAN1,downstream_gene_variant,,ENST00000498443,;POMGNT1,downstream_gene_variant,,ENST00000480972,;POMGNT1,downstream_gene_variant,,ENST00000485714,;TSPAN1,downstream_gene_variant,,ENST00000482143,;TSPAN1,downstream_gene_variant,,ENST00000464786,;TSPAN1,downstream_gene_variant,,ENST00000475163,;POMGNT1,downstream_gene_variant,,ENST00000463030,;	?-2639	39	27	SUCCESS
POMGNT1	55624	.	GRCh37	1	46654654	46654654	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	23	39	0	ENST00000371984.3:c.*288A>T			ENST00000371984	NM_017739.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS57995.1	.	SOMATICSNIPER|VARSCANS	.	AGGCCTGGAAA	NONE	.	.	.	.	.	ENSP00000361060	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371992	Transcript	.	.	ENSG00000085998	19139	.	.	HIGH	22/22	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	POMGNT1	HGNC	Q5VST3_HUMAN	.	UPI0000458AF4	SNV	POMGNT1,splice_acceptor_variant,,ENST00000535522,;POMGNT1,splice_acceptor_variant,,ENST00000371986,;POMGNT1,splice_acceptor_variant,,ENST00000371992,;POMGNT1,3_prime_UTR_variant,,ENST00000396420,;POMGNT1,3_prime_UTR_variant,,ENST00000371984,;TSPAN1,downstream_gene_variant,,ENST00000372003,;POMGNT1,splice_acceptor_variant,,ENST00000475642,;TSPAN1,downstream_gene_variant,,ENST00000469330,;POMGNT1,downstream_gene_variant,,ENST00000477114,;TSPAN1,downstream_gene_variant,,ENST00000482928,;TSPAN1,downstream_gene_variant,,ENST00000472170,;TSPAN1,downstream_gene_variant,,ENST00000470318,;TSPAN1,downstream_gene_variant,,ENST00000498443,;POMGNT1,downstream_gene_variant,,ENST00000480972,;POMGNT1,downstream_gene_variant,,ENST00000485714,;TSPAN1,downstream_gene_variant,,ENST00000482143,;TSPAN1,downstream_gene_variant,,ENST00000464786,;TSPAN1,downstream_gene_variant,,ENST00000475163,;POMGNT1,downstream_gene_variant,,ENST00000463030,;	.	39	25	SUCCESS
DGCR6L	85359	.	GRCh37	22	20302024	20302024	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	55	17	61	0	ENST00000248879.3:c.*174del			ENST00000248879	NM_033257.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS13778.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	GCCCAGCCTCCC	NONE	.	.	.	.	.	ENSP00000248879	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000248879	Transcript	.	.	ENSG00000128185	18551	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DGC6L_HUMAN	DGCR6L	HGNC	.	.	UPI0000129216	deletion	DGCR6L,3_prime_UTR_variant,,ENST00000405465,;DGCR6L,3_prime_UTR_variant,,ENST00000248879,;XXbac-B444P24.13,downstream_gene_variant,,ENST00000608275,;DGCR6L,3_prime_UTR_variant,,ENST00000443409,;XXbac-B444P24.10,downstream_gene_variant,,ENST00000438948,;	929	61	72	SUCCESS
SOWAHC	65124	.	GRCh37	2	110374819	110374819	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	6	118	0	ENST00000356454.3:c.*1175G>A			ENST00000356454	NM_023016.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33270.1	.	MUTECT|MUSE	.	TTACTGAAAAT	NONE	.	.	.	.	.	ENSP00000365830	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000356454	Transcript	.	.	ENSG00000198142	26149	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SWAHC_HUMAN	SOWAHC	HGNC	.	.	UPI0000208A9B	SNV	SOWAHC,3_prime_UTR_variant,,ENST00000356454,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000545389,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000397712,;SEPT10,upstream_gene_variant,,ENST00000334001,;SEPT10,upstream_gene_variant,,ENST00000397714,;SEPT10,upstream_gene_variant,,ENST00000356688,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	2909	118	97	SUCCESS
MARS2	92935	.	GRCh37	2	198572012	198572012	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	54	25	98	0	ENST00000282276.6:c.*101C>G			ENST00000282276	NM_138395.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33358.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAATCAAATG	NONE	.	.	.	.	.	ENSP00000282276	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000282276	Transcript	.	.	ENSG00000247626	25133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYMM_HUMAN	MARS2	HGNC	.	.	UPI00000492CE	SNV	MARS2,3_prime_UTR_variant,,ENST00000282276,;AC011997.1,intron_variant,,ENST00000409845,;	1926	98	80	SUCCESS
USP13	8975	.	GRCh37	3	179501966	179501966	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs766978588	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	78	56	126	0	ENST00000263966.3:c.*37G>A			ENST00000263966	NM_003940.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3235.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CATACGCCTTT	NONE	byCluster	.	.	.	.	ENSP00000263966	.	21/21	.	.	.	.	.	.	.	.	rs766978588	21/21	PASS	ENST00000263966	Transcript	.	.	ENSG00000058056	12611	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP13_HUMAN	USP13	HGNC	.	.	UPI000006DC10	SNV	USP13,3_prime_UTR_variant,,ENST00000263966,;USP13,3_prime_UTR_variant,,ENST00000496897,;	3100	126	134	SUCCESS
HIST1H1E	0	.	GRCh37	6	26157314	26157314	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	rs756027725	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	103	71	186	0	ENST00000304218.3:c.*36C>G			ENST00000304218	NM_005321.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4586.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAACACAACCC	NONE	byFrequency	.	.	.	.	ENSP00000307705	.	1/1	.	.	.	.	.	.	.	.	rs756027725	1/1	PASS	ENST00000304218	Transcript	.	.	ENSG00000168298	4718	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	H14_HUMAN	HIST1H1E	HGNC	A3R0T8_HUMAN	.	UPI0000000DB9	SNV	HIST1H1E,3_prime_UTR_variant,,ENST00000304218,;HIST1H2BD,upstream_gene_variant,,ENST00000289316,;HIST1H2BD,upstream_gene_variant,,ENST00000377777,;	756	186	175	SUCCESS
DLD	1738	.	GRCh37	7	107559712	107559712	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A7SH-01	TCGA-RC-A7SH-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	20	44	0	ENST00000205402.5:c.*8G>C			ENST00000205402	NM_000108.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5749.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TAGAAGATTAT	NONE	.	.	.	.	.	ENSP00000205402	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000205402	Transcript	.	.	ENSG00000091140	2898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DLDH_HUMAN	DLD	HGNC	B4DHG0_HUMAN	.	UPI0000072725	SNV	DLD,3_prime_UTR_variant,,ENST00000205402,;DLD,3_prime_UTR_variant,,ENST00000437604,;DLD,3_prime_UTR_variant,,ENST00000537148,;DLD,3_prime_UTR_variant,,ENST00000440410,;LAMB1,downstream_gene_variant,,ENST00000393561,;LAMB1,downstream_gene_variant,,ENST00000222399,;DLD,3_prime_UTR_variant,,ENST00000417551,;DLD,3_prime_UTR_variant,,ENST00000415325,;LAMB1,downstream_gene_variant,,ENST00000472714,;DLD,downstream_gene_variant,,ENST00000451081,;	1819	44	43	SUCCESS
PLXDC2	84898	.	GRCh37	10	20568801	20568801	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	8	34	0	ENST00000377252.4:c.*53A>G			ENST00000377252	NM_032812.7			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7132.1	.	MUTECT|MUSE	.	CTAAAATTTTG	NONE	.	.	.	.	.	ENSP00000366460	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000377252	Transcript	.	.	ENSG00000120594	21013	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PXDC2_HUMAN	PLXDC2	HGNC	.	.	UPI0000048F2C	SNV	PLXDC2,3_prime_UTR_variant,,ENST00000377242,;PLXDC2,3_prime_UTR_variant,,ENST00000377252,;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	2484	34	27	SUCCESS
OR9Q1	219956	.	GRCh37	11	57948061	57948061	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	89	11	180	0	ENST00000335397.3:c.*212A>G			ENST00000335397	NM_001005212.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31543.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCAGGACAAGT	NONE	.	.	.	.	.	ENSP00000334934	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000335397	Transcript	.	.	ENSG00000186509	14724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	OR9Q1_HUMAN	OR9Q1	HGNC	.	.	UPI0000041B48	SNV	OR9Q1,3_prime_UTR_variant,,ENST00000335397,;	1461	180	101	SUCCESS
POLD4	57804	.	GRCh37	11	67119414	67119414	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	7	58	0	ENST00000312419.3:c.*52C>A			ENST00000312419	NM_021173.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8158.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAGGTTCTT	NONE	.	.	.	.	.	ENSP00000311368	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000312419	Transcript	.	.	ENSG00000175482	14106	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DPOD4_HUMAN	POLD4	HGNC	.	.	UPI0000129741	SNV	POLD4,3_prime_UTR_variant,,ENST00000539074,;POLD4,3_prime_UTR_variant,,ENST00000312419,;POLD4,non_coding_transcript_exon_variant,,ENST00000532830,;POLD4,non_coding_transcript_exon_variant,,ENST00000529704,;AP003419.11,non_coding_transcript_exon_variant,,ENST00000543494,;POLD4,3_prime_UTR_variant,,ENST00000531239,;POLD4,3_prime_UTR_variant,,ENST00000530584,;POLD4,non_coding_transcript_exon_variant,,ENST00000528087,;POLD4,non_coding_transcript_exon_variant,,ENST00000534515,;POLD4,non_coding_transcript_exon_variant,,ENST00000533429,;POLD4,downstream_gene_variant,,ENST00000529000,;POLD4,downstream_gene_variant,,ENST00000542982,;POLD4,downstream_gene_variant,,ENST00000525255,;POLD4,downstream_gene_variant,,ENST00000524743,;	523	58	23	SUCCESS
MIA2	4253	.	GRCh37	14	39722480	39722480	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs191820685	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	16	121	0	ENST00000280082.3:c.*27A>G			ENST00000280082	NM_054024.3			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS9672.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATATAATG	NONE	by1000G	.	.	G:0	.	ENSP00000280082	G:0.001	6/6	.	.	.	.	.	.	.	.	rs191820685	6/6	PASS	ENST00000280082	Transcript	.	G:0.0002	ENSG00000150526	18432	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	MIA2_HUMAN	MIA2	HGNC	G3V4M1_HUMAN,B2RA73_HUMAN	.	UPI0000351D6B	SNV	MIA2,3_prime_UTR_variant,,ENST00000280082,;RP11-407N17.3,intron_variant,,ENST00000553728,;	2191	121	57	SUCCESS
SMIM6	100130933	.	GRCh37	17	73643908	73643908	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	44	0	ENST00000556126.2:c.*263T>A			ENST00000556126				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS54166.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCACATGGAGA	NONE	.	.	.	.	.	ENSP00000463361	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000579469	Transcript	.	.	ENSG00000259120	40032	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMIM6_HUMAN	SMIM6	HGNC	.	.	UPI000005275F	SNV	SMIM6,3_prime_UTR_variant,,ENST00000556126,;SMIM6,3_prime_UTR_variant,,ENST00000579469,;RECQL5,intron_variant,,ENST00000578201,;RECQL5,intron_variant,,ENST00000423245,;RECQL5,intron_variant,,ENST00000317905,;RECQL5,downstream_gene_variant,,ENST00000584999,;RECQL5,downstream_gene_variant,,ENST00000420326,;RECQL5,downstream_gene_variant,,ENST00000340830,;RECQL5,downstream_gene_variant,,ENST00000580078,;RECQL5,downstream_gene_variant,,ENST00000579274,;RECQL5,intron_variant,,ENST00000582464,;	808	44	30	SUCCESS
SOCS6	9306	.	GRCh37	18	67997370	67997370	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	126	42	321	0	ENST00000397942.3:c.*3858A>T			ENST00000397942	NM_004232.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATTAATTGTA	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,downstream_gene_variant,,ENST00000578377,;SOCS6,downstream_gene_variant,,ENST00000582322,;	5782	322	168	SUCCESS
CNN1	1264	.	GRCh37	19	11660620	11660620	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	5	57	0	ENST00000252456.2:c.*10G>A			ENST00000252456	NM_001299.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12263.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACAAGGCCTTC	NONE	.	.	.	.	.	ENSP00000252456	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000252456	Transcript	.	.	ENSG00000130176	2155	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CNN1_HUMAN	CNN1	HGNC	K7ENC5_HUMAN,B7Z7E1_HUMAN	.	UPI0000127AE3	SNV	CNN1,3_prime_UTR_variant,,ENST00000587087,;CNN1,3_prime_UTR_variant,,ENST00000252456,;CNN1,3_prime_UTR_variant,,ENST00000544952,;CNN1,3_prime_UTR_variant,,ENST00000592923,;CNN1,3_prime_UTR_variant,,ENST00000535659,;CNN1,intron_variant,,ENST00000588935,;ELOF1,downstream_gene_variant,,ENST00000586120,;ELOF1,downstream_gene_variant,,ENST00000586683,;ELOF1,downstream_gene_variant,,ENST00000252445,;ELOF1,downstream_gene_variant,,ENST00000591674,;ELOF1,downstream_gene_variant,,ENST00000589171,;ELOF1,downstream_gene_variant,,ENST00000591912,;CNN1,downstream_gene_variant,,ENST00000586059,;ELOF1,downstream_gene_variant,,ENST00000587806,;CNN1,downstream_gene_variant,,ENST00000586577,;CNN1,downstream_gene_variant,,ENST00000592338,;ELOF1,downstream_gene_variant,,ENST00000590700,;	1115	57	23	SUCCESS
ZNF492	57615	.	GRCh37	19	22848119	22848119	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	98	28	258	0	ENST00000456783.2:c.*52G>T			ENST00000456783	NM_020855.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46032.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTAGGTAAG	NONE	.	.	.	.	.	ENSP00000413660	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000456783	Transcript	.	.	ENSG00000229676	23707	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN492_HUMAN	ZNF492	HGNC	.	.	UPI00001C200B	SNV	ZNF492,3_prime_UTR_variant,,ENST00000456783,;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	1892	258	126	SUCCESS
SLAMF6	114836	.	GRCh37	1	160456431	160456431	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	19	0	ENST00000368057.3:c.*66G>T			ENST00000368057				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53394.1	.	MUTECT|MUSE	.	CTGTTCTTTGT	NONE	.	.	.	.	.	ENSP00000357036	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000368057	Transcript	.	.	ENSG00000162739	21392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLAF6_HUMAN	SLAMF6	HGNC	.	.	UPI0000051E34	SNV	SLAMF6,3_prime_UTR_variant,,ENST00000368057,;SLAMF6,3_prime_UTR_variant,,ENST00000368059,;SLAMF6,downstream_gene_variant,,ENST00000368055,;	1126	19	25	SUCCESS
SERPINC1	462	.	GRCh37	1	173872971	173872971	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	56	0	ENST00000367698.3:c.*56A>G			ENST00000367698	NM_000488.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1313.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTATTTTTA	NONE	.	.	.	.	.	ENSP00000356671	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367698	Transcript	.	.	ENSG00000117601	775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANT3_HUMAN	SERPINC1	HGNC	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN	.	UPI000002C0C1	SNV	SERPINC1,3_prime_UTR_variant,,ENST00000367698,;ZBTB37,downstream_gene_variant,,ENST00000367701,;	1570	56	22	SUCCESS
SLC5A3	6526	.	GRCh37	21	35470028	35470028	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	61	17	183	0	ENST00000381151.3:c.*374T>A			ENST00000381151				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33549.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTTGCTCA	NONE	.	.	.	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,3_prime_UTR_variant,,ENST00000608209,;SLC5A3,3_prime_UTR_variant,,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	3043	183	79	SUCCESS
C22orf43	0	.	GRCh37	22	23950941	23950941	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	3	56	0	ENST00000317749.5:c.*10G>T			ENST00000317749	NM_016449.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42985.1	.	MUTECT|MUSE	.	CTCCACAGAAG	NONE	.	.	.	.	.	ENSP00000316137	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000317749	Transcript	.	.	ENSG00000189269	28031	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CV043_HUMAN	C22orf43	HGNC	.	.	UPI00001CE017	SNV	C22orf43,3_prime_UTR_variant,,ENST00000317749,;	998	56	31	SUCCESS
C22orf46	79640	.	GRCh37	22	42093209	42093209	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	6	38	0	ENST00000402966.1:c.*3227G>T			ENST00000402966	NM_001142964.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46717.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGAGGAACA	NONE	.	.	.	.	.	ENSP00000385467	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000402966	Transcript	.	.	ENSG00000184208	26294	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV046_HUMAN	C22orf46	HGNC	.	.	UPI00018962D9	SNV	C22orf46,3_prime_UTR_variant,,ENST00000402966,;MEI1,upstream_gene_variant,,ENST00000300398,;MEI1,upstream_gene_variant,,ENST00000401548,;MEI1,upstream_gene_variant,,ENST00000540833,;MEI1,upstream_gene_variant,,ENST00000400107,;C22orf46,downstream_gene_variant,,ENST00000472110,;Z83840.1,downstream_gene_variant,,ENST00000539984,;	4044	38	22	SUCCESS
EIF2AK3	9451	.	GRCh37	2	88857133	88857133	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	13	50	0	ENST00000303236.3:c.*121C>G			ENST00000303236	NM_004836.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33241.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGTAGTC	NONE	.	.	.	.	.	ENSP00000307235	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000303236	Transcript	.	.	ENSG00000172071	3255	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	E2AK3_HUMAN	EIF2AK3	HGNC	E7ER02_HUMAN	.	UPI000013E87D	SNV	EIF2AK3,3_prime_UTR_variant,,ENST00000419748,;EIF2AK3,3_prime_UTR_variant,,ENST00000303236,;EIF2AK3,downstream_gene_variant,,ENST00000415570,;AC104134.2,intron_variant,,ENST00000413234,;	3774	50	29	SUCCESS
GPR63	81491	.	GRCh37	6	97246343	97246343	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	81	0	ENST00000229955.3:c.*5T>A			ENST00000229955	NM_030784.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5036.1	.	MUTECT|MUSE	.	GTTCCAATATT	NONE	.	.	.	.	.	ENSP00000229955	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000229955	Transcript	.	.	ENSG00000112218	13302	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GPR63_HUMAN	GPR63	HGNC	A8K1C4_HUMAN	.	UPI0000037594	SNV	GPR63,3_prime_UTR_variant,,ENST00000417980,;GPR63,3_prime_UTR_variant,,ENST00000229955,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	1611	81	34	SUCCESS
ANXA13	312	.	GRCh37	8	124693472	124693472	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-RC-A7SK-01	TCGA-RC-A7SK-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	71	0	ENST00000419625.1:c.*8C>G			ENST00000419625	NM_004306.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34939.1	.	MUTECT|MUSE	.	GCCCTGGCTTG	NONE	.	.	.	.	.	ENSP00000262219	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262219	Transcript	.	.	ENSG00000104537	536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANX13_HUMAN	ANXA13	HGNC	E5RIN3_HUMAN	.	UPI000016A41E	SNV	ANXA13,3_prime_UTR_variant,,ENST00000262219,;ANXA13,3_prime_UTR_variant,,ENST00000419625,;	1150	71	60	SUCCESS
SART1	9092	.	GRCh37	11	65746561	65746561	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	12	98	0	ENST00000312397.5:c.*60T>C			ENST00000312397	NM_005146.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31611.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTATTTTTT	NONE	.	.	.	.	.	ENSP00000310448	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000312397	Transcript	.	.	ENSG00000175467	10538	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SNUT1_HUMAN	SART1	HGNC	.	.	UPI00000732D5	SNV	SART1,3_prime_UTR_variant,,ENST00000312397,;SART1,downstream_gene_variant,,ENST00000529580,;SART1,downstream_gene_variant,,ENST00000528137,;SART1,downstream_gene_variant,,ENST00000533386,;RP11-1167A19.6,downstream_gene_variant,,ENST00000533995,;	2555	98	64	SUCCESS
RDM1	201299	.	GRCh37	17	34245278	34245278	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	17	0	ENST00000293273.6:c.*68C>T			ENST00000293273	NM_145654.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11301.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGCGTGGGG	NONE	.	.	.	.	.	ENSP00000293273	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000293273	Transcript	.	.	ENSG00000187456	19950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RDM1_HUMAN	RDM1	HGNC	.	.	UPI0000044E0F	SNV	RDM1,3_prime_UTR_variant,,ENST00000293273,;RDM1,3_prime_UTR_variant,,ENST00000431884,;RDM1,3_prime_UTR_variant,,ENST00000394529,;RDM1,downstream_gene_variant,,ENST00000394528,;RDM1,downstream_gene_variant,,ENST00000430160,;RDM1,downstream_gene_variant,,ENST00000419453,;RDM1,downstream_gene_variant,,ENST00000394527,;RDM1,downstream_gene_variant,,ENST00000425909,;RDM1,downstream_gene_variant,,ENST00000591402,;RDM1,downstream_gene_variant,,ENST00000585884,;RDM1,downstream_gene_variant,,ENST00000585939,;RDM1,downstream_gene_variant,,ENST00000591420,;RDM1,downstream_gene_variant,,ENST00000592489,;RDM1,downstream_gene_variant,,ENST00000436836,;LRRC37A9P,upstream_gene_variant,,ENST00000586565,;	969	17	21	SUCCESS
USP29	57663	.	GRCh37	19	57643202	57643202	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	4	34	0	ENST00000254181.4:c.*390G>T			ENST00000254181	NM_020903.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33124.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAAAGTTTGA	NONE	.	.	.	.	.	ENSP00000254181	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000254181	Transcript	.	.	ENSG00000131864	18563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UBP29_HUMAN	USP29	HGNC	M0QZL0_HUMAN,A1L447_HUMAN	.	UPI0000137A01	SNV	USP29,3_prime_UTR_variant,,ENST00000598197,;USP29,3_prime_UTR_variant,,ENST00000254181,;USP29,downstream_gene_variant,,ENST00000600940,;ZIM3,downstream_gene_variant,,ENST00000269834,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;	3613	34	29	SUCCESS
KCNJ6	3763	.	GRCh37	21	38997385	38997385	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1354159138	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	3	21	0	ENST00000609713.1:c.*76G>A			ENST00000609713	NM_002240.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42927.1	.	MUTECT|MUSE	.	AGAGACAGAAA	NONE	.	.	.	.	.	ENSP00000477437	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000609713	Transcript	.	.	ENSG00000157542	6267	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	KCNJ6	HGNC	.	.	UPI0000000B10	SNV	KCNJ6,3_prime_UTR_variant,,ENST00000609713,;KCNJ6,downstream_gene_variant,,ENST00000288309,;	1938	21	20	SUCCESS
FAM227A	646851	.	GRCh37	22	38978277	38978277	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	17	0	ENST00000535113.1:c.*3853A>G			ENST00000535113	NM_001013647.1			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE	.	TGTTCTAAAAC	NONE	.	77	.	.	.	ENSP00000385758	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406767	Transcript	.	.	ENSG00000184949	44197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	FAM227A	HGNC	I3L0D2_HUMAN	.	UPI00020658AF	SNV	FAM227A,3_prime_UTR_variant,,ENST00000535113,;FAM227A,3_prime_UTR_variant,,ENST00000355830,;FAM227A,downstream_gene_variant,,ENST00000406767,;FAM227A,non_coding_transcript_exon_variant,,ENST00000543828,;FAM227A,downstream_gene_variant,,ENST00000540952,;	.	17	14	SUCCESS
FN1	2335	.	GRCh37	2	216226048	216226048	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	11	0	ENST00000359671.1:c.*230G>A			ENST00000359671				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42814.1	.	MUTECT|MUSE	.	GAATACTTCGA	NONE	.	.	.	.	.	ENSP00000346839	.	46/46	.	.	.	.	.	.	.	.	.	46/46	PASS	ENST00000354785	Transcript	.	.	ENSG00000115414	3778	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FINC_HUMAN	FN1	HGNC	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN	.	UPI0000E5A2B5	SNV	FN1,3_prime_UTR_variant,,ENST00000432072,;FN1,3_prime_UTR_variant,,ENST00000443816,;FN1,3_prime_UTR_variant,,ENST00000345488,;FN1,3_prime_UTR_variant,,ENST00000354785,;FN1,3_prime_UTR_variant,,ENST00000359671,;FN1,3_prime_UTR_variant,,ENST00000357009,;FN1,3_prime_UTR_variant,,ENST00000446046,;FN1,3_prime_UTR_variant,,ENST00000357867,;FN1,3_prime_UTR_variant,,ENST00000421182,;FN1,3_prime_UTR_variant,,ENST00000346544,;FN1,3_prime_UTR_variant,,ENST00000336916,;FN1,3_prime_UTR_variant,,ENST00000456923,;FN1,3_prime_UTR_variant,,ENST00000323926,;FN1,3_prime_UTR_variant,,ENST00000356005,;FN1,non_coding_transcript_exon_variant,,ENST00000498719,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,downstream_gene_variant,,ENST00000494446,;FN1,downstream_gene_variant,,ENST00000469569,;FN1,downstream_gene_variant,,ENST00000473614,;	8034	11	10	SUCCESS
FAM162A	26355	.	GRCh37	3	122128719	122128723	+	3_prime_UTR_variant	3'UTR	DEL	TTATG	TTATG	-	rs1560003641	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	TTATG	TTATG	.	.	.	.	.	.	.	.	.	.	.	.	.	52	19	61	0	ENST00000477892.1:c.*45_*49del			ENST00000477892	NM_014367.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS43139.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CAGGAATTATGTTATA	NONE	.	.	.	.	.	ENSP00000419088	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000477892	Transcript	.	.	ENSG00000114023	17865	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	F162A_HUMAN	FAM162A	HGNC	.	.	UPI0000073F3F	deletion	FAM162A,3_prime_UTR_variant,,ENST00000477892,;FAM162A,3_prime_UTR_variant,,ENST00000232125,;WDR5B,downstream_gene_variant,,ENST00000330689,;FAM162A,downstream_gene_variant,,ENST00000469967,;	590-594	61	71	SUCCESS
GK5	256356	.	GRCh37	3	141884418	141884418	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	4	36	0	ENST00000392993.2:c.*46G>T			ENST00000392993	NM_001039547.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33871.1	.	MUTECT|VARSCANS	.	CTGCACGTCAC	NONE	.	.	.	.	.	ENSP00000418001	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000392993	Transcript	.	.	ENSG00000175066	28635	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GLPK5_HUMAN	GK5	HGNC	.	.	UPI000069B0CB	SNV	GK5,3_prime_UTR_variant,,ENST00000392993,;GK5,downstream_gene_variant,,ENST00000486459,;RP11-485G4.2,upstream_gene_variant,,ENST00000608374,;GK5,3_prime_UTR_variant,,ENST00000480757,;GK5,non_coding_transcript_exon_variant,,ENST00000460515,;GK5,intron_variant,,ENST00000492097,;GK5,downstream_gene_variant,,ENST00000463349,;	1788	36	42	SUCCESS
NECAB1	64168	.	GRCh37	8	91967871	91967871	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-RG-A7D4-01	TCGA-RG-A7D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	12	11	0	ENST00000417640.2:c.*131C>G			ENST00000417640	NM_022351.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47889.1	.	MUTECT|MUSE	.	GCACTCTTTCA	NONE	.	.	.	.	.	ENSP00000387380	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000417640	Transcript	.	.	ENSG00000123119	20983	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NECA1_HUMAN	NECAB1	HGNC	.	.	UPI0000070EEA	SNV	NECAB1,3_prime_UTR_variant,,ENST00000521366,;NECAB1,3_prime_UTR_variant,,ENST00000522820,;NECAB1,3_prime_UTR_variant,,ENST00000417640,;C8orf88,downstream_gene_variant,,ENST00000517562,;	1524	11	23	SUCCESS
HMGA2	8091	.	GRCh37	12	66357126	66357126	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	22	0	ENST00000403681.2:c.*54G>A			ENST00000403681	NM_003483.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44936.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGAGAAGAC	NONE	.	.	.	.	.	ENSP00000384026	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000403681	Transcript	.	.	ENSG00000149948	5009	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMGA2_HUMAN	HMGA2	HGNC	Q8IZX8_HUMAN,B2KX87_HUMAN	.	UPI0000000CE6	SNV	HMGA2,3_prime_UTR_variant,,ENST00000403681,;HMGA2,downstream_gene_variant,,ENST00000541363,;HMGA2,3_prime_UTR_variant,,ENST00000539662,;	1524	22	19	SUCCESS
NOL3	8996	.	GRCh37	16	67209000	67209000	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	23	52	0	ENST00000268605.7:c.*43G>A			ENST00000268605	NM_001185057.2	220		0	.	.	.	.	.	A	*	protein_coding	YES	CCDS58473.1	660	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGATAGGACCT	NONE	.	.	.	.	.	ENSP00000454598	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000568146	Transcript	.	.	ENSG00000140939	7869	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOL3_HUMAN	NOL3	HGNC	.	.	UPI0000130349	SNV	NOL3,missense_variant,p.Arg52Lys,ENST00000564860,;NOL3,stop_retained_variant,p.%3D,ENST00000568146,;NOL3,stop_retained_variant,p.%3D,ENST00000566871,;NOL3,3_prime_UTR_variant,,ENST00000432069,;NOL3,3_prime_UTR_variant,,ENST00000564053,;NOL3,3_prime_UTR_variant,,ENST00000268605,;NOL3,3_prime_UTR_variant,,ENST00000563258,;NOL3,downstream_gene_variant,,ENST00000563439,;KIAA0895L,downstream_gene_variant,,ENST00000290881,;KIAA0895L,downstream_gene_variant,,ENST00000561621,;KIAA0895L,downstream_gene_variant,,ENST00000568563,;NOL3,downstream_gene_variant,,ENST00000565560,;KIAA0895L,downstream_gene_variant,,ENST00000563902,;NOL3,downstream_gene_variant,,ENST00000564992,;KIAA0895L,downstream_gene_variant,,ENST00000563831,;NOL3,downstream_gene_variant,,ENST00000568199,;KIAA0895L,downstream_gene_variant,,ENST00000563918,;NOL3,downstream_gene_variant,,ENST00000565645,;KIAA0895L,downstream_gene_variant,,ENST00000570009,;KIAA0895L,downstream_gene_variant,,ENST00000564423,;KIAA0895L,downstream_gene_variant,,ENST00000562514,;NOL3,non_coding_transcript_exon_variant,,ENST00000568503,;KIAA0895L,downstream_gene_variant,,ENST00000568165,;KIAA0895L,downstream_gene_variant,,ENST00000569349,;NOL3,downstream_gene_variant,,ENST00000568086,;KIAA0895L,downstream_gene_variant,,ENST00000561679,;KIAA0895L,downstream_gene_variant,,ENST00000564835,;	713	52	37	SUCCESS
RGS9BP	388531	.	GRCh37	19	33168828	33168828	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1599788011	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	327	34	91	0	ENST00000334176.3:c.*951G>A			ENST00000334176	NM_207391.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12424.1	.	MUTECT|MUSE|VARSCANS	.	TGTGCGTGCTG	NONE	.	.	.	.	.	ENSP00000334134	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334176	Transcript	1	.	ENSG00000186326	30304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	R9BP_HUMAN	RGS9BP	HGNC	.	.	UPI0000198BA8	SNV	RGS9BP,3_prime_UTR_variant,,ENST00000334176,;ANKRD27,upstream_gene_variant,,ENST00000586693,;ANKRD27,upstream_gene_variant,,ENST00000306065,;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;ANKRD27,upstream_gene_variant,,ENST00000590519,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	2516	91	361	SUCCESS
UGGT1	56886	.	GRCh37	2	128947393	128947393	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs545960836	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	3	33	0	ENST00000259253.6:c.*77T>A			ENST00000259253	NM_020120.3			0	.	C:0	.	C:0	.	A	.	protein_coding	YES	CCDS2154.1	.	MUSE|VARSCANS	.	CTGTCTATACA	NONE	by1000G	.	.	C:0	.	ENSP00000259253	C:0.001	41/41	.	.	.	.	.	.	.	.	rs545960836	41/41	PASS	ENST00000259253	Transcript	.	C:0.0002	ENSG00000136731	15663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	UGGG1_HUMAN	UGGT1	HGNC	.	.	UPI00000707D8	SNV	UGGT1,3_prime_UTR_variant,,ENST00000418197,;UGGT1,3_prime_UTR_variant,,ENST00000259253,;UGGT1,3_prime_UTR_variant,,ENST00000375990,;UGGT1,non_coding_transcript_exon_variant,,ENST00000465836,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;	4792	33	27	SUCCESS
CCR9	10803	.	GRCh37	3	45944231	45944231	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	57	33	93	0	ENST00000357632.2:c.*841C>T			ENST00000357632	NM_031200.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2732.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGCACTTGCT	NONE	.	.	.	.	.	ENSP00000350256	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000357632	Transcript	.	.	ENSG00000173585	1610	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR9_HUMAN	CCR9	HGNC	Q9UN87_HUMAN	.	UPI0000039DBB	SNV	CCR9,3_prime_UTR_variant,,ENST00000395963,;CCR9,3_prime_UTR_variant,,ENST00000357632,;LZTFL1,intron_variant,,ENST00000536047,;LZTFL1,intron_variant,,ENST00000539217,;CCR9,downstream_gene_variant,,ENST00000422395,;CCR9,downstream_gene_variant,,ENST00000355983,;Y_RNA,upstream_gene_variant,,ENST00000364765,;LZTFL1,intron_variant,,ENST00000472635,;LZTFL1,intron_variant,,ENST00000492333,;LZTFL1,intron_variant,,ENST00000483279,;LZTFL1,intron_variant,,ENST00000418700,;LZTFL1,intron_variant,,ENST00000448111,;	2131	93	90	SUCCESS
CDH10	1008	.	GRCh37	5	24487658	24487659	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs554058970	.	TCGA-UB-A7MA-01	TCGA-UB-A7MA-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	8	14	27	0	ENST00000264463.4:c.*113dup			ENST00000264463	NM_006727.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3892.1	.	INDELOCATOR|VARSCANI	.	AATGAGAAAAA	NONE	.	.	.	.	.	ENSP00000264463	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000264463	Transcript	.	.	ENSG00000040731	1749	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CAD10_HUMAN	CDH10	HGNC	.	.	UPI0000167B7B	insertion	CDH10,3_prime_UTR_variant,,ENST00000264463,;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	2988-2989	27	22	SUCCESS
KAZALD1	81621	.	GRCh37	10	102827492	102827492	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	11	16	0				ENST00000370200	NM_030929.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7509.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCTGGTGA	NONE	.	2143	.	.	.	ENSP00000359219	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000370200	Transcript	.	.	ENSG00000107821	25460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KAZD1_HUMAN	KAZALD1	HGNC	.	.	UPI000004283E	SNV	KAZALD1,downstream_gene_variant,,ENST00000370200,;KAZALD1,non_coding_transcript_exon_variant,,ENST00000465807,;KAZALD1,non_coding_transcript_exon_variant,,ENST00000477267,;KAZALD1,downstream_gene_variant,,ENST00000477979,;KAZALD1,downstream_gene_variant,,ENST00000470106,;KAZALD1,downstream_gene_variant,,ENST00000608812,;	.	16	13	SUCCESS
SORCS3	22986	.	GRCh37	10	107023226	107023226	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	2	22	44	0	ENST00000369701.3:c.*94A>G			ENST00000369701	NM_014978.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7558.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTACCTTT	NONE	.	.	.	.	.	ENSP00000358715	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,3_prime_UTR_variant,,ENST00000369701,;	3990	44	24	SUCCESS
SPAG6	9576	.	GRCh37	10	22705772	22705772	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	15	0	ENST00000376624.3:c.*155A>G			ENST00000376624	NM_012443.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7139.1	.	RADIA|MUTECT|MUSE	.	TAAACATTCGT	NONE	.	.	.	.	.	ENSP00000365811	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000376624	Transcript	.	.	ENSG00000077327	11215	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	SPAG6_HUMAN	SPAG6	HGNC	.	.	UPI0000073ED7	SNV	SPAG6,3_prime_UTR_variant,,ENST00000313311,;SPAG6,3_prime_UTR_variant,,ENST00000376603,;SPAG6,3_prime_UTR_variant,,ENST00000376624,;SPAG6,3_prime_UTR_variant,,ENST00000376601,;SPAG6,downstream_gene_variant,,ENST00000538630,;RP11-301N24.3,downstream_gene_variant,,ENST00000422675,;SPAG6,intron_variant,,ENST00000487973,;	1827	15	10	SUCCESS
ZMYND11	10771	.	GRCh37	10	298459	298459	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	17	0	ENST00000381591.1:c.*49G>C			ENST00000381591				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7052.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACACAGCGGTT	NONE	.	.	.	.	.	ENSP00000381053	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000397962	Transcript	.	.	ENSG00000015171	16966	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZMY11_HUMAN	ZMYND11	HGNC	.	.	UPI0000458A5F	SNV	ZMYND11,3_prime_UTR_variant,,ENST00000381607,;ZMYND11,3_prime_UTR_variant,,ENST00000402736,;ZMYND11,3_prime_UTR_variant,,ENST00000309776,;ZMYND11,3_prime_UTR_variant,,ENST00000397962,;ZMYND11,3_prime_UTR_variant,,ENST00000381584,;ZMYND11,3_prime_UTR_variant,,ENST00000397959,;ZMYND11,3_prime_UTR_variant,,ENST00000381591,;ZMYND11,3_prime_UTR_variant,,ENST00000535374,;ZMYND11,3_prime_UTR_variant,,ENST00000381604,;ZMYND11,3_prime_UTR_variant,,ENST00000602682,;ZMYND11,downstream_gene_variant,,ENST00000558098,;ZMYND11,downstream_gene_variant,,ENST00000545619,;ZMYND11,downstream_gene_variant,,ENST00000381602,;ZMYND11,downstream_gene_variant,,ENST00000509513,;ZMYND11,downstream_gene_variant,,ENST00000403354,;ZMYND11,downstream_gene_variant,,ENST00000473115,;	2286	17	14	SUCCESS
ZEB1	6935	.	GRCh37	10	31816204	31816204	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	8	0	ENST00000320985.10:c.*12G>C			ENST00000320985				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53505.1	.	MUTECT|MUSE	.	TTCTAGAAGGA	NONE	.	.	.	.	.	ENSP00000354487	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000361642	Transcript	1	.	ENSG00000148516	11642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZEB1_HUMAN	ZEB1	HGNC	F6TDF5_HUMAN	.	UPI000068F51D	SNV	ZEB1,3_prime_UTR_variant,,ENST00000560721,;ZEB1,3_prime_UTR_variant,,ENST00000446923,;ZEB1,3_prime_UTR_variant,,ENST00000361642,;ZEB1,3_prime_UTR_variant,,ENST00000320985,;ZEB1,3_prime_UTR_variant,,ENST00000542815,;ZEB1,downstream_gene_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,downstream_gene_variant,,ENST00000558655,;	3453	8	17	SUCCESS
NRBF2	29982	.	GRCh37	10	64914178	64914178	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	14	0	ENST00000277746.6:c.*200G>C			ENST00000277746	NM_030759.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7268.1	.	RADIA|MUTECT|MUSE	.	CTTCAGCTAAT	NONE	.	.	.	.	.	ENSP00000277746	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000277746	Transcript	.	.	ENSG00000148572	19692	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NRBF2_HUMAN	NRBF2	HGNC	.	.	UPI000006D398	SNV	NRBF2,3_prime_UTR_variant,,ENST00000435510,;NRBF2,3_prime_UTR_variant,,ENST00000277746,;	1245	14	11	SUCCESS
ANXA7	310	.	GRCh37	10	75135830	75135830	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs75895127	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	5	41	0	ENST00000372919.4:c.*23G>A			ENST00000372919	NM_004034.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7326.1	.	SOMATICSNIPER|VARSCANS	.	TTTTTCATTAA	NONE	.	.	.	.	.	ENSP00000362010	.	14/14	.	.	.	.	.	.	.	.	rs75895127	14/14	PASS	ENST00000372919	Transcript	.	.	ENSG00000138279	545	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ANXA7_HUMAN	ANXA7	HGNC	B9ZVT2_HUMAN	.	UPI000013DB45	SNV	ANXA7,3_prime_UTR_variant,,ENST00000372919,;ANXA7,3_prime_UTR_variant,,ENST00000372921,;ANXA7,downstream_gene_variant,,ENST00000535178,;ANXA7,non_coding_transcript_exon_variant,,ENST00000463788,;	1547	41	27	SUCCESS
IFIT3	3437	.	GRCh37	10	91087725	91087725	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	15	50	0				ENST00000371811	NM_001031683.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7402.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCTTTATAT	NONE	.	.	.	.	.	ENSP00000360883	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000371818	Transcript	.	.	ENSG00000119917	5411	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFIT3_HUMAN	IFIT3	HGNC	Q5T765_HUMAN,B4DLS7_HUMAN	.	UPI000012D3E5	SNV	IFIT3,5_prime_UTR_variant,,ENST00000371818,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;IFIT3,upstream_gene_variant,,ENST00000371811,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	75	50	17	SUCCESS
MMP10	4319	.	GRCh37	11	102641432	102641432	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	17	0	ENST00000279441.4:c.*92T>A			ENST00000279441	NM_002425.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8321.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCAGGAAA	NONE	.	.	.	.	.	ENSP00000279441	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000279441	Transcript	.	.	ENSG00000166670	7156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP10_HUMAN	MMP10	HGNC	.	.	UPI00000422C0	SNV	MMP10,3_prime_UTR_variant,,ENST00000279441,;WTAPP1,intron_variant,,ENST00000371455,;AP000647.3,upstream_gene_variant,,ENST00000535634,;	1560	17	23	SUCCESS
DDI1	414301	.	GRCh37	11	103909490	103909490	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	9	100	0	ENST00000302259.3:c.*749G>T			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31660.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAGAAATT	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	2183	100	84	SUCCESS
NCAPD3	23310	.	GRCh37	11	134022826	134022826	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	21	36	0	ENST00000534548.2:c.*13A>T			ENST00000534548	NM_015261.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31723.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGTGGGAG	NONE	.	.	.	.	.	ENSP00000433681	.	35/35	.	.	.	.	.	.	.	.	.	35/35	PASS	ENST00000534548	Transcript	.	.	ENSG00000151503	28952	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNDD3_HUMAN	NCAPD3	HGNC	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN	.	UPI00001C1EFE	SNV	NCAPD3,3_prime_UTR_variant,,ENST00000534548,;JAM3,downstream_gene_variant,,ENST00000441717,;JAM3,downstream_gene_variant,,ENST00000529443,;JAM3,downstream_gene_variant,,ENST00000299106,;NCAPD3,intron_variant,,ENST00000526787,;NCAPD3,3_prime_UTR_variant,,ENST00000525964,;NCAPD3,3_prime_UTR_variant,,ENST00000534532,;JAM3,downstream_gene_variant,,ENST00000533711,;NCAPD3,downstream_gene_variant,,ENST00000525432,;	4575	36	39	SUCCESS
KCNC1	3746	.	GRCh37	11	17801169	17801169	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	27	72	1				ENST00000379472	NM_004976.4	557		0	.	.	.	.	.	T	P	protein_coding	YES	CCDS44547.1	1671	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCACCTGG	NONE	.	.	.	.	.	ENSP00000265969	.	3/4	.	.	.	.	.	.	.	.	.	3/4	PASS	ENST00000265969	Transcript	.	.	ENSG00000129159	6233	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	KCNC1	HGNC	K4DI87_HUMAN	.	UPI0000E2291F	SNV	KCNC1,synonymous_variant,p.%3D,ENST00000265969,;KCNC1,downstream_gene_variant,,ENST00000379472,;KCNC1,non_coding_transcript_exon_variant,,ENST00000525802,;KCNC1,non_coding_transcript_exon_variant,,ENST00000526029,;	2862	74	31	SUCCESS
NUP98	4928	.	GRCh37	11	3819070	3819070	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs967696287	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	1	18	42	0				ENST00000359171				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7746.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCTTGTGAAT	NONE	.	48	.	.	.	ENSP00000316032	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000324932	Transcript	.	.	ENSG00000110713	8068	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NUP98_HUMAN	NUP98	HGNC	Q9HDC8_HUMAN	.	UPI000013CD36	SNV	PGAP2,5_prime_UTR_variant,,ENST00000396986,;PGAP2,5_prime_UTR_variant,,ENST00000300730,;NUP98,upstream_gene_variant,,ENST00000324932,;NUP98,upstream_gene_variant,,ENST00000355260,;PGAP2,upstream_gene_variant,,ENST00000396991,;NUP98,upstream_gene_variant,,ENST00000397004,;PGAP2,upstream_gene_variant,,ENST00000459679,;NUP98,upstream_gene_variant,,ENST00000532475,;NUP98,upstream_gene_variant,,ENST00000359171,;PGAP2,upstream_gene_variant,,ENST00000464441,;PGAP2,upstream_gene_variant,,ENST00000464906,;PGAP2,upstream_gene_variant,,ENST00000396993,;NUP98,upstream_gene_variant,,ENST00000397007,;PGAP2,upstream_gene_variant,,ENST00000464261,;PGAP2,upstream_gene_variant,,ENST00000532535,;PGAP2,upstream_gene_variant,,ENST00000532523,;PGAP2,upstream_gene_variant,,ENST00000532017,;PGAP2,upstream_gene_variant,,ENST00000489571,;PGAP2,intron_variant,,ENST00000528216,;PGAP2,upstream_gene_variant,,ENST00000485602,;PGAP2,upstream_gene_variant,,ENST00000475884,;PGAP2,upstream_gene_variant,,ENST00000465237,;PGAP2,upstream_gene_variant,,ENST00000492246,;PGAP2,upstream_gene_variant,,ENST00000490830,;PGAP2,upstream_gene_variant,,ENST00000477358,;PGAP2,upstream_gene_variant,,ENST00000464229,;PGAP2,upstream_gene_variant,,ENST00000524661,;	.	42	19	SUCCESS
OR51E1	143503	.	GRCh37	11	4675535	4675535	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	64	0	ENST00000396952.5:c.*822A>T			ENST00000396952	NM_152430.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31358.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCAGAGTC	NONE	.	.	.	.	.	ENSP00000380155	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000396952	Transcript	.	.	ENSG00000180785	15194	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O51E1_HUMAN	OR51E1	HGNC	.	.	UPI000003ACE2	SNV	OR51E1,3_prime_UTR_variant,,ENST00000396952,;OR51E1,downstream_gene_variant,,ENST00000530215,;	2429	64	30	SUCCESS
TRIM48	79097	.	GRCh37	11	55038029	55038029	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs953992198	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	24	86	0	ENST00000417545.2:c.*118A>G			ENST00000417545	NM_024114.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7947.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CACCTACAAGT	NONE	.	.	.	.	.	ENSP00000402414	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000417545	Transcript	.	.	ENSG00000150244	19021	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI48_HUMAN	TRIM48	HGNC	.	.	UPI0000374413	SNV	TRIM48,3_prime_UTR_variant,,ENST00000417545,;RP11-72M10.2,downstream_gene_variant,,ENST00000526762,;	879	86	56	SUCCESS
OR5M8	219484	.	GRCh37	11	56257909	56257909	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	22	115	0	ENST00000327216.2:c.*2A>T			ENST00000327216	NM_001005282.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31533.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATTTTTAA	NONE	.	.	.	.	.	ENSP00000323354	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000327216	Transcript	.	.	ENSG00000181371	14846	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OR5M8_HUMAN	OR5M8	HGNC	.	.	UPI00000405CC	SNV	OR5M8,3_prime_UTR_variant,,ENST00000327216,;	963	115	69	SUCCESS
TDG	6996	.	GRCh37	12	104381014	104381014	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	9	0	ENST00000392872.3:c.*146A>T			ENST00000392872	NM_003211.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9095.1	.	MUTECT|MUSE	.	GTGTGAACCGT	NONE	.	.	.	.	.	ENSP00000376611	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000392872	Transcript	.	.	ENSG00000139372	11700	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TDG_HUMAN	TDG	HGNC	F5H539_HUMAN,B4E127_HUMAN	.	UPI00000740E5	SNV	TDG,3_prime_UTR_variant,,ENST00000542036,;TDG,3_prime_UTR_variant,,ENST00000392872,;GLT8D2,downstream_gene_variant,,ENST00000548660,;TDG,downstream_gene_variant,,ENST00000544861,;TDG,downstream_gene_variant,,ENST00000266775,;GLT8D2,downstream_gene_variant,,ENST00000360814,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;GLT8D2,downstream_gene_variant,,ENST00000546436,;AC078819.1,downstream_gene_variant,,ENST00000401157,;TDG,downstream_gene_variant,,ENST00000536395,;TDG,3_prime_UTR_variant,,ENST00000540956,;TDG,downstream_gene_variant,,ENST00000542926,;	1613	9	12	SUCCESS
HSPB8	26353	.	GRCh37	12	119631833	119631833	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	10	14	0	ENST00000281938.2:c.*170A>T			ENST00000281938	NM_014365.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9189.1	.	MUTECT|MUSE	.	TCCACAGGATA	NONE	.	.	.	.	.	ENSP00000281938	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000281938	Transcript	.	.	ENSG00000152137	30171	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HSPB8_HUMAN	HSPB8	HGNC	.	.	UPI0000037C1B	SNV	HSPB8,3_prime_UTR_variant,,ENST00000281938,;HSPB8,intron_variant,,ENST00000541798,;HSPB8,downstream_gene_variant,,ENST00000542496,;RP11-64B16.2,upstream_gene_variant,,ENST00000392530,;	1432	14	25	SUCCESS
WBP11	51729	.	GRCh37	12	14939997	14939997	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs146578533	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	11	31	0	ENST00000261167.2:c.*2A>T			ENST00000261167	NM_016312.2			0	G:0	.	.	.	.	A	.	protein_coding	YES	CCDS8666.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGCTGTCAC	NONE	byFrequency	.	.	.	G:0.0002	ENSP00000261167	.	12/12	.	.	.	.	.	.	.	.	rs146578533	12/12	PASS	ENST00000261167	Transcript	.	.	ENSG00000084463	16461	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WBP11_HUMAN	WBP11	HGNC	F5GXS9_HUMAN,B4DMD3_HUMAN	.	UPI0000035FC2	SNV	WBP11,3_prime_UTR_variant,,ENST00000261167,;WBP11,downstream_gene_variant,,ENST00000535638,;	2162	31	33	SUCCESS
MUC19	283463	.	GRCh37	12	40940418	40940418	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	.	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	68	37	83	0	ENST00000454784.4:c.*6312C>A			ENST00000454784				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTTCCACAGG	NONE	.	.	.	.	.	ENSP00000476404	.	60/84	.	.	.	.	.	.	.	.	COSM3384322	60/84	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	1	.	.	.	.	.	1	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,downstream_gene_variant,,ENST00000424466,;MUC19,upstream_gene_variant,,ENST00000542482,;MUC19,non_coding_transcript_exon_variant,,ENST00000492952,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,synonymous_variant,p.%3D,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000541039,;	17938	83	105	SUCCESS
KCNA6	3742	.	GRCh37	12	4921454	4921454	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	26	75	0	ENST00000280684.3:c.*657T>C			ENST00000280684				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS8534.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAATGGATT	NONE	.	.	.	.	.	ENSP00000408321	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000433855	Transcript	.	.	ENSG00000151079	6225	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA6_HUMAN	KCNA6	HGNC	.	.	UPI00001279AD	SNV	KCNA6,3_prime_UTR_variant,,ENST00000433855,;KCNA6,3_prime_UTR_variant,,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	3113	75	66	SUCCESS
KCNA1	3736	.	GRCh37	12	5022372	5022372	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	88	62	174	0	ENST00000382545.3:c.*340T>G			ENST00000382545	NM_000217.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8535.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGCTTTGGTT	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	2935	174	150	SUCCESS
ESPL1	9700	.	GRCh37	12	53687376	53687376	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	19	0	ENST00000257934.4:c.*118A>G			ENST00000257934	NM_012291.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8852.1	.	MUTECT|MUSE	.	GAAACATTTCC	NONE	.	.	.	.	.	ENSP00000257934	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000257934	Transcript	.	.	ENSG00000135476	16856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ESPL1_HUMAN	ESPL1	HGNC	H3BRX7_HUMAN	.	UPI00003668C3	SNV	ESPL1,3_prime_UTR_variant,,ENST00000257934,;PFDN5,upstream_gene_variant,,ENST00000550846,;ESPL1,downstream_gene_variant,,ENST00000552462,;PFDN5,upstream_gene_variant,,ENST00000334478,;PFDN5,upstream_gene_variant,,ENST00000351500,;PFDN5,upstream_gene_variant,,ENST00000551018,;PFDN5,upstream_gene_variant,,ENST00000549759,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;PFDN5,upstream_gene_variant,,ENST00000549995,;ESPL1,downstream_gene_variant,,ENST00000552600,;PFDN5,upstream_gene_variant,,ENST00000553171,;PFDN5,upstream_gene_variant,,ENST00000547228,;PFDN5,upstream_gene_variant,,ENST00000547130,;PFDN5,upstream_gene_variant,,ENST00000552341,;PFDN5,upstream_gene_variant,,ENST00000243040,;PFDN5,upstream_gene_variant,,ENST00000550964,;PFDN5,upstream_gene_variant,,ENST00000552742,;PFDN5,upstream_gene_variant,,ENST00000550069,;PFDN5,upstream_gene_variant,,ENST00000551223,;PFDN5,upstream_gene_variant,,ENST00000552548,;ESPL1,downstream_gene_variant,,ENST00000553016,;PFDN5,upstream_gene_variant,,ENST00000550880,;PFDN5,upstream_gene_variant,,ENST00000548984,;PFDN5,upstream_gene_variant,,ENST00000550513,;	6572	19	16	SUCCESS
HOXC11	3227	.	GRCh37	12	54369200	54369200	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	25	64	0	ENST00000546378.1:c.*3T>G			ENST00000546378				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAACCTGCAGA	NONE	.	.	.	.	.	ENSP00000446680	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000546378	Transcript	.	.	ENSG00000123388	5123	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HXC11_HUMAN	HOXC11	HGNC	.	.	UPI000012CF7D	SNV	HOXC11,missense_variant,p.Cys308Gly,ENST00000243082,;HOXC11,3_prime_UTR_variant,,ENST00000546378,;HOTAIR,upstream_gene_variant,,ENST00000424518,;HOTAIR,upstream_gene_variant,,ENST00000455246,;	1034	64	54	SUCCESS
HOXC9	3225	.	GRCh37	12	54396569	54396569	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	11	25	0	ENST00000303450.4:c.*111A>G			ENST00000303450	NM_006897.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8869.1	.	MUTECT|MUSE	.	GATAGACAAAA	NONE	.	.	.	.	.	ENSP00000302836	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000303450	Transcript	.	.	ENSG00000180806	5130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HXC9_HUMAN	HOXC9	HGNC	.	.	UPI000012CF79	SNV	HOXC9,3_prime_UTR_variant,,ENST00000303450,;HOXC9,3_prime_UTR_variant,,ENST00000508190,;HOXC6,intron_variant,,ENST00000509328,;HOXC6,intron_variant,,ENST00000504315,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC-AS1,upstream_gene_variant,,ENST00000512427,;HOXC-AS1,upstream_gene_variant,,ENST00000505700,;HOXC9,non_coding_transcript_exon_variant,,ENST00000504557,;	964	25	35	SUCCESS
DYRK2	8445	.	GRCh37	12	68053742	68053742	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	81	56	182	0	ENST00000344096.3:c.*1249A>G			ENST00000344096	NM_006482.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8978.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTACTTTC	NONE	.	.	.	.	.	ENSP00000342105	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000344096	Transcript	.	.	ENSG00000127334	3093	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DYRK2_HUMAN	DYRK2	HGNC	G8JLB4_HUMAN,F5GXG1_HUMAN	.	UPI000006E92B	SNV	DYRK2,3_prime_UTR_variant,,ENST00000344096,;DYRK2,downstream_gene_variant,,ENST00000393555,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,intron_variant,,ENST00000425371,;	3468	182	137	SUCCESS
LUM	4060	.	GRCh37	12	91497801	91497801	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1014587136	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	5	21	0	ENST00000266718.4:c.*141A>G			ENST00000266718	NM_002345.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9038.1	.	MUTECT|MUSE	.	TTTCTTTAAAA	NONE	.	.	.	.	.	ENSP00000266718	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000266718	Transcript	.	.	ENSG00000139329	6724	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LUM_HUMAN	LUM	HGNC	.	.	UPI0000001C4D	SNV	LUM,3_prime_UTR_variant,,ENST00000266718,;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,downstream_gene_variant,,ENST00000546642,;	1613	21	18	SUCCESS
ABHD13	84945	.	GRCh37	13	108882622	108882622	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs749420253	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	50	0	ENST00000375898.3:c.*42A>G			ENST00000375898	NM_032859.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32007.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGCAGAATG	NONE	byFrequency	.	.	.	.	ENSP00000365063	.	2/2	.	.	.	.	.	.	.	.	rs749420253	2/2	PASS	ENST00000375898	Transcript	.	.	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	1357	50	42	SUCCESS
SOX1	6656	.	GRCh37	13	112723789	112723789	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	48	99	0	ENST00000330949.1:c.*641T>A			ENST00000330949	NM_005986.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9523.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCTTGTAAA	NONE	.	.	.	.	.	ENSP00000330218	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330949	Transcript	.	.	ENSG00000182968	11189	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SOX1_HUMAN	SOX1	HGNC	.	.	UPI0000190FB0	SNV	SOX1,3_prime_UTR_variant,,ENST00000330949,;	1877	99	99	SUCCESS
CYSLTR2	57105	.	GRCh37	13	49283359	49283359	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	24	71	0	ENST00000282018.3:c.*1365A>G			ENST00000282018	NM_020377.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9412.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCTACCAAT	NONE	.	.	.	.	.	ENSP00000282018	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000282018	Transcript	.	.	ENSG00000152207	18274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLTR2_HUMAN	CYSLTR2	HGNC	Q5KU17_HUMAN	.	UPI000003BCCC	SNV	CYSLTR2,3_prime_UTR_variant,,ENST00000282018,;	2409	71	57	SUCCESS
DACH1	1602	.	GRCh37	13	72014704	72014704	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	25	98	0	ENST00000305425.4:c.*83A>G			ENST00000305425	NM_080759.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41899.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACTTTATTT	NONE	.	.	.	.	.	ENSP00000304994	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000305425	Transcript	.	.	ENSG00000165659	2663	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DACH1_HUMAN	DACH1	HGNC	.	.	UPI00001FCE9E	SNV	DACH1,3_prime_UTR_variant,,ENST00000305425,;DACH1,3_prime_UTR_variant,,ENST00000313174,;DACH1,3_prime_UTR_variant,,ENST00000354591,;DACH1,3_prime_UTR_variant,,ENST00000359684,;	2633	98	62	SUCCESS
DIO3	1735	.	GRCh37	14	102028973	102028973	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	38	108	0	ENST00000510508.4:c.*225C>A			ENST00000510508				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41992.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACTGGAA	NONE	.	.	.	.	.	ENSP00000427336	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000510508	Transcript	.	.	ENSG00000197406	2885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	DIO3	HGNC	Q86TU3_HUMAN	.	UPI0001B1A4B2	SNV	DIO3,3_prime_UTR_variant,,ENST00000510508,;DIO3,3_prime_UTR_variant,,ENST00000359323,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	1286	108	118	SUCCESS
RNASE12	493901	.	GRCh37	14	21058407	21058407	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	14	24	0	ENST00000556526.1:c.*32T>A			ENST00000556526	NM_001024822.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32037.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGAGAAGAGA	NONE	.	.	.	.	.	ENSP00000450580	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000556526	Transcript	.	.	ENSG00000258436	24211	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RNS12_HUMAN	RNASE12	HGNC	.	.	UPI00004C6F5C	SNV	RNASE12,3_prime_UTR_variant,,ENST00000556526,;RNASE11,5_prime_UTR_variant,,ENST00000610205,;RNASE11,intron_variant,,ENST00000413502,;RNASE11,intron_variant,,ENST00000555283,;RNASE11,upstream_gene_variant,,ENST00000557105,;RNASE11,upstream_gene_variant,,ENST00000398009,;RNASE11,upstream_gene_variant,,ENST00000555841,;RNASE11,upstream_gene_variant,,ENST00000432835,;RNASE11,upstream_gene_variant,,ENST00000443456,;RNASE11,upstream_gene_variant,,ENST00000553849,;RNASE11,upstream_gene_variant,,ENST00000554842,;RNASE11,upstream_gene_variant,,ENST00000398008,;RNASE11,upstream_gene_variant,,ENST00000557503,;RP11-14J7.6,non_coding_transcript_exon_variant,,ENST00000554006,;RP11-14J7.6,intron_variant,,ENST00000553604,;RP11-14J7.6,intron_variant,,ENST00000554529,;RP11-14J7.6,intron_variant,,ENST00000556487,;RP11-14J7.6,upstream_gene_variant,,ENST00000554993,;RNASE11,3_prime_UTR_variant,,ENST00000335950,;	576	24	30	SUCCESS
MMP14	4323	.	GRCh37	14	23315269	23315269	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1255821356	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	22	0	ENST00000311852.6:c.*21A>T			ENST00000311852	NM_004995.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9577.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGCCCACTCCT	NONE	.	.	.	.	.	ENSP00000308208	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000311852	Transcript	.	.	ENSG00000157227	7160	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MMP14_HUMAN	MMP14	HGNC	.	.	UPI0000048136	SNV	MMP14,3_prime_UTR_variant,,ENST00000311852,;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,intron_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	2031	22	22	SUCCESS
PSMB11	122706	.	GRCh37	14	23512607	23512607	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	44	37	84	0	ENST00000408907.2:c.*270C>A			ENST00000408907	NM_001099780.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41923.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCTACTGCAT	NONE	.	.	.	.	.	ENSP00000386212	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408907	Transcript	.	.	ENSG00000222028	31963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSB11_HUMAN	PSMB11	HGNC	.	.	UPI00001D7B85	SNV	PSMB11,3_prime_UTR_variant,,ENST00000408907,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000487137,;CDH24,downstream_gene_variant,,ENST00000397359,;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000485922,;	1232	84	81	SUCCESS
NEDD8	4738	.	GRCh37	14	24686150	24686150	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	44	0	ENST00000250495.5:c.*183A>G			ENST00000250495	NM_006156.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9621.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGTAGCCA	NONE	.	.	.	.	.	ENSP00000250495	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000250495	Transcript	.	.	ENSG00000129559	7732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEDD8_HUMAN	NEDD8	HGNC	F8VSA6_HUMAN	.	UPI00000009A5	SNV	NEDD8,3_prime_UTR_variant,,ENST00000250495,;NEDD8-MDP1,intron_variant,,ENST00000534348,;CHMP4A,upstream_gene_variant,,ENST00000530996,;CHMP4A,upstream_gene_variant,,ENST00000609024,;TM9SF1,upstream_gene_variant,,ENST00000530611,;MDP1,upstream_gene_variant,,ENST00000396833,;CHMP4A,upstream_gene_variant,,ENST00000533011,;MDP1,upstream_gene_variant,,ENST00000288087,;CHMP4A,upstream_gene_variant,,ENST00000347519,;TM9SF1,upstream_gene_variant,,ENST00000556387,;NEDD8,downstream_gene_variant,,ENST00000524927,;NEDD8,non_coding_transcript_exon_variant,,ENST00000531430,;NEDD8,non_coding_transcript_exon_variant,,ENST00000527046,;NEDD8-MDP1,intron_variant,,ENST00000604306,;MDP1,upstream_gene_variant,,ENST00000525696,;NEDD8,downstream_gene_variant,,ENST00000526430,;CHMP4A,upstream_gene_variant,,ENST00000531158,;CHMP4A,upstream_gene_variant,,ENST00000542700,;MDP1,upstream_gene_variant,,ENST00000532557,;NEDD8,3_prime_UTR_variant,,ENST00000396828,;NEDD8-MDP1,intron_variant,,ENST00000530579,;NEDD8-MDP1,intron_variant,,ENST00000605847,;MDP1,upstream_gene_variant,,ENST00000533536,;AL136419.6,upstream_gene_variant,,ENST00000528804,;MDP1,upstream_gene_variant,,ENST00000466422,;MDP1,upstream_gene_variant,,ENST00000528849,;MDP1,upstream_gene_variant,,ENST00000531553,;AL136419.6,upstream_gene_variant,,ENST00000565988,;CHMP4A,upstream_gene_variant,,ENST00000527154,;MDP1,upstream_gene_variant,,ENST00000532742,;NEDD8,downstream_gene_variant,,ENST00000560427,;CHMP4A,upstream_gene_variant,,ENST00000534106,;CHMP4A,upstream_gene_variant,,ENST00000533523,;MDP1,upstream_gene_variant,,ENST00000530222,;CHMP4A,upstream_gene_variant,,ENST00000552620,;	616	44	39	SUCCESS
NOVA1	4857	.	GRCh37	14	26917063	26917063	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	13	57	0	ENST00000539517.2:c.*102T>C			ENST00000539517	NM_002515.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS32061.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTATATATTA	NONE	.	.	.	.	.	ENSP00000438875	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000539517	Transcript	.	.	ENSG00000139910	7886	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOVA1_HUMAN	NOVA1	HGNC	F8VW64_HUMAN,B7Z770_HUMAN	.	UPI000013D74E	SNV	NOVA1,3_prime_UTR_variant,,ENST00000539517,;NOVA1,3_prime_UTR_variant,,ENST00000465357,;NOVA1,3_prime_UTR_variant,,ENST00000267422,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	1944	57	35	SUCCESS
INSM2	84684	.	GRCh37	14	36006071	36006071	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	29	77	0	ENST00000307169.3:c.*912T>C			ENST00000307169	NM_032594.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9657.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAATGGCAA	NONE	.	.	.	.	.	ENSP00000306523	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000307169	Transcript	.	.	ENSG00000168348	17539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	INSM2_HUMAN	INSM2	HGNC	.	.	UPI000013EBD6	SNV	INSM2,3_prime_UTR_variant,,ENST00000307169,;RALGAPA1,downstream_gene_variant,,ENST00000389698,;RALGAPA1,downstream_gene_variant,,ENST00000382366,;RALGAPA1,downstream_gene_variant,,ENST00000554573,;RALGAPA1,downstream_gene_variant,,ENST00000554259,;RALGAPA1,downstream_gene_variant,,ENST00000258840,;RALGAPA1,downstream_gene_variant,,ENST00000307138,;RALGAPA1,downstream_gene_variant,,ENST00000556106,;	2824	77	66	SUCCESS
SOCS4	122809	.	GRCh37	14	55514078	55514078	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	111	0	ENST00000339298.2:c.*2996A>C			ENST00000339298				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9722.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCTAAGCCTA	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	SNV	SOCS4,3_prime_UTR_variant,,ENST00000339298,;SOCS4,3_prime_UTR_variant,,ENST00000395472,;MAPK1IP1L,upstream_gene_variant,,ENST00000395468,;SOCS4,downstream_gene_variant,,ENST00000555846,;MAPK1IP1L,upstream_gene_variant,,ENST00000554364,;MAPK1IP1L,upstream_gene_variant,,ENST00000556515,;	4651	111	78	SUCCESS
SOCS4	122809	.	GRCh37	14	55515390	55515390	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	113	58	172	0	ENST00000339298.2:c.*4308A>G			ENST00000339298				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9722.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGATTAATGGA	NONE	.	.	.	.	.	ENSP00000378855	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000395472	Transcript	.	.	ENSG00000180008	19392	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS4_HUMAN	SOCS4	HGNC	Q5H9R6_HUMAN	.	UPI000000CC33	SNV	SOCS4,3_prime_UTR_variant,,ENST00000339298,;SOCS4,3_prime_UTR_variant,,ENST00000395472,;MAPK1IP1L,upstream_gene_variant,,ENST00000395468,;SOCS4,downstream_gene_variant,,ENST00000555846,;MAPK1IP1L,upstream_gene_variant,,ENST00000554364,;MAPK1IP1L,upstream_gene_variant,,ENST00000556515,;	5963	172	171	SUCCESS
HSPA2	3306	.	GRCh37	14	65009717	65009717	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	91	96	214	0	ENST00000247207.6:c.*230G>A			ENST00000247207	NM_021979.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9766.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCTGACTTG	NONE	.	.	.	.	.	ENSP00000247207	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000247207	Transcript	.	.	ENSG00000126803	5235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HSP72_HUMAN	HSPA2	HGNC	.	.	UPI000012CC6A	SNV	HSPA2,3_prime_UTR_variant,,ENST00000247207,;HSPA2,3_prime_UTR_variant,,ENST00000394709,;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,downstream_gene_variant,,ENST00000554883,;	2532	214	187	SUCCESS
SPTB	6710	.	GRCh37	14	65289865	65289865	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	12	32	0				ENST00000389721	NM_000347.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32099.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCTGGGGG	NONE	.	.	.	.	.	ENSP00000374372	.	1/35	.	.	.	.	.	.	.	.	.	1/35	PASS	ENST00000389722	Transcript	.	.	ENSG00000070182	11274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTB1_HUMAN	SPTB	HGNC	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN	.	UPI000053030D	SNV	SPTB,splice_acceptor_variant,,ENST00000556626,;SPTB,splice_acceptor_variant,,ENST00000542895,;SPTB,5_prime_UTR_variant,,ENST00000389722,;SPTB,upstream_gene_variant,,ENST00000389721,;SPTB,upstream_gene_variant,,ENST00000389720,;	2	32	25	SUCCESS
ZDHHC22	283576	.	GRCh37	14	77599825	77599825	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	9	0	ENST00000319374.4:c.*201T>A			ENST00000319374	NM_174976.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45140.1	.	MUTECT|MUSE	.	AGCCTAGAAAT	NONE	.	.	.	.	.	ENSP00000318222	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319374	Transcript	.	.	ENSG00000177108	20106	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZDH22_HUMAN	ZDHHC22	HGNC	G3V3N3_HUMAN,G3V259_HUMAN	.	UPI000059D283	SNV	ZDHHC22,3_prime_UTR_variant,,ENST00000319374,;TMEM63C,intron_variant,,ENST00000557408,;RP11-463C8.4,intron_variant,,ENST00000557752,;	1196	9	10	SUCCESS
GALC	2581	.	GRCh37	14	88400973	88400973	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	33	0	ENST00000261304.2:c.*103G>T			ENST00000261304	NM_000153.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9878.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCTCAAAAG	NONE	.	.	.	.	.	ENSP00000261304	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000261304	Transcript	.	.	ENSG00000054983	4115	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GALC_HUMAN	GALC	HGNC	.	.	UPI00001FD982	SNV	GALC,3_prime_UTR_variant,,ENST00000393569,;GALC,3_prime_UTR_variant,,ENST00000261304,;GALC,intron_variant,,ENST00000544807,;GALC,downstream_gene_variant,,ENST00000393568,;GALC,intron_variant,,ENST00000555000,;GALC,downstream_gene_variant,,ENST00000555179,;	2268	33	23	SUCCESS
OR4Q1P	81104	.	GRCh37	15	22332775	22332775	+	upstream_gene_variant	5'Flank	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	20	30	0				ENST00000557009				0	.	.	.	.	.	C	.	sense_overlapping	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGACAGGTAT	NONE	.	.	.	.	.	.	.	3/7	.	.	.	.	.	.	.	.	.	3/7	PASS	ENST00000558896	Transcript	.	.	ENSG00000259176	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-69H14.6	Clone_based_vega_gene	.	.	.	SNV	RP11-69H14.6,splice_region_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000557855,;RP11-69H14.6,intron_variant,,ENST00000560193,;RP11-69H14.6,intron_variant,,ENST00000557817,;RP11-69H14.6,downstream_gene_variant,,ENST00000560134,;OR4Q1P,upstream_gene_variant,,ENST00000557009,;	582	30	39	SUCCESS
NPAP1	23742	.	GRCh37	15	24925004	24925004	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	42	122	1	ENST00000329468.2:c.*519A>T			ENST00000329468	NM_018958.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10015.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCAATAGGA	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	4464	123	107	SUCCESS
GREM1	26585	.	GRCh37	15	33024330	33024330	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	40	46	84	0	ENST00000300177.4:c.*884A>G			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10029.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACTGACCACT	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	1628	84	86	SUCCESS
PLCB2	5330	.	GRCh37	15	40580867	40580867	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	29	0	ENST00000260402.3:c.*49T>A			ENST00000260402	NM_004573.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42020.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCAGAGAA	NONE	.	.	.	.	.	ENSP00000260402	.	32/32	.	.	.	.	.	.	.	.	.	32/32	PASS	ENST00000260402	Transcript	.	.	ENSG00000137841	9055	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PLCB2_HUMAN	PLCB2	HGNC	H0YNI4_HUMAN	.	UPI0000D79B75	SNV	PLCB2,3_prime_UTR_variant,,ENST00000260402,;PLCB2,3_prime_UTR_variant,,ENST00000557821,;PLCB2,3_prime_UTR_variant,,ENST00000456256,;PLCB2,intron_variant,,ENST00000559671,;PLCB2,3_prime_UTR_variant,,ENST00000558588,;PLCB2,3_prime_UTR_variant,,ENST00000559618,;PLCB2,non_coding_transcript_exon_variant,,ENST00000559381,;PLCB2,intron_variant,,ENST00000558505,;PLCB2,intron_variant,,ENST00000560009,;PLCB2,downstream_gene_variant,,ENST00000560701,;PLCB2,downstream_gene_variant,,ENST00000561378,;	3857	29	17	SUCCESS
RNU6-353P	106479723	.	GRCh37	15	43990318	43990318	+	upstream_gene_variant	5'Flank	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	114	75	215	0				ENST00000364266		328		0	.	.	.	.	.	G	V/G	protein_coding	YES	CCDS32217.1	983	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGAGTGCACA	NONE	.	.	Superfamily_domains:SSF55931,Pfam_domain:PF00217,Gene3D:3.30.590.10,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_profiles:PS51510	.	.	ENSP00000406577	.	7/9	.	.	.	.	.	.	.	.	.	7/9	PASS	ENST00000413453	Transcript	.	.	ENSG00000223572	31736	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(0.999)	.	deleterious(0)	.	KCRU_HUMAN	CKMT1A	HGNC	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN	.	UPI000012DCCE	SNV	CKMT1A,missense_variant,p.Val328Gly,ENST00000434505,;CKMT1A,missense_variant,p.Val328Gly,ENST00000413453,;STRC,intron_variant,,ENST00000541030,;CKMT1A,downstream_gene_variant,,ENST00000415044,;CKMT1A,downstream_gene_variant,,ENST00000411750,;RNU6-353P,upstream_gene_variant,,ENST00000364266,;CKMT1A,downstream_gene_variant,,ENST00000483604,;CKMT1A,downstream_gene_variant,,ENST00000479938,;CKMT1A,downstream_gene_variant,,ENST00000457648,;STRCP1,downstream_gene_variant,,ENST00000509801,;	1507	215	190	SUCCESS
C2CD4A	145741	.	GRCh37	15	62362914	62362914	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	108	68	169	0	ENST00000355522.5:c.*1992T>C			ENST00000355522	NM_207322.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32258.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTTGTTGACCA	NONE	.	.	.	.	.	ENSP00000347712	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000355522	Transcript	.	.	ENSG00000198535	33627	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C2C4A_HUMAN	C2CD4A	HGNC	.	.	UPI0000140CF2	SNV	C2CD4A,3_prime_UTR_variant,,ENST00000355522,;	3243	169	177	SUCCESS
ISLR	3671	.	GRCh37	15	74468897	74468897	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	70	0	ENST00000249842.3:c.*411A>C			ENST00000249842	NM_005545.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10260.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGACAGGGAA	NONE	.	.	.	.	.	ENSP00000249842	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000249842	Transcript	.	.	ENSG00000129009	6133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ISLR_HUMAN	ISLR	HGNC	H0YN67_HUMAN,H0YL90_HUMAN	.	UPI0000049E09	SNV	ISLR,3_prime_UTR_variant,,ENST00000249842,;ISLR,3_prime_UTR_variant,,ENST00000395118,;STRA6,downstream_gene_variant,,ENST00000574278,;STRA6,downstream_gene_variant,,ENST00000323940,;ISLR,downstream_gene_variant,,ENST00000560862,;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000559510,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,;STRA6,downstream_gene_variant,,ENST00000563965,;STRA6,downstream_gene_variant,,ENST00000423167,;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000395105,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	2055	70	44	SUCCESS
RLBP1	6017	.	GRCh37	15	89753385	89753385	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	11	0	ENST00000268125.5:c.*131C>T			ENST00000268125	NM_000326.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32324.1	.	MUTECT|MUSE	.	CCTGAGCTCAC	NONE	.	.	.	.	.	ENSP00000268125	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000268125	Transcript	1	.	ENSG00000140522	10024	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RLBP1_HUMAN	RLBP1	HGNC	.	.	UPI0000000C59	SNV	RLBP1,3_prime_UTR_variant,,ENST00000268125,;RLBP1,3_prime_UTR_variant,,ENST00000563254,;RLBP1,downstream_gene_variant,,ENST00000567787,;	1525	11	9	SUCCESS
ATP6V0C	527	.	GRCh37	16	2569783	2569783	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs780456937	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	18	22	0	ENST00000330398.4:c.*37A>T			ENST00000330398	NM_001694.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATGTAAAGAC	NONE	.	.	.	.	.	ENSP00000455547	.	3/3	.	.	.	.	.	.	.	.	rs780456937	3/3	PASS	ENST00000564543	Transcript	.	.	ENSG00000260272	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	RP11-20I23.1	Clone_based_vega_gene	H3BV07_HUMAN,H3BQ06_HUMAN	.	UPI0002466D02	SNV	RP11-20I23.1,3_prime_UTR_variant,,ENST00000564543,;ATP6V0C,3_prime_UTR_variant,,ENST00000565223,;ATP6V0C,3_prime_UTR_variant,,ENST00000330398,;ATP6V0C,3_prime_UTR_variant,,ENST00000564973,;ATP6C,intron_variant,,ENST00000569317,;AMDHD2,upstream_gene_variant,,ENST00000293971,;AMDHD2,upstream_gene_variant,,ENST00000568263,;ATP6V0C,downstream_gene_variant,,ENST00000568562,;AMDHD2,upstream_gene_variant,,ENST00000569879,;AMDHD2,upstream_gene_variant,,ENST00000566706,;AMDHD2,upstream_gene_variant,,ENST00000563556,;AMDHD2,upstream_gene_variant,,ENST00000302956,;AMDHD2,upstream_gene_variant,,ENST00000413459,;AMDHD2,upstream_gene_variant,,ENST00000565963,;AMDHD2,upstream_gene_variant,,ENST00000567475,;AMDHD2,upstream_gene_variant,,ENST00000569219,;AMDHD2,upstream_gene_variant,,ENST00000563633,;	1508	22	41	SUCCESS
SPN	6693	.	GRCh37	16	29677425	29677425	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	38	93	0	ENST00000360121.3:c.*1173A>T			ENST00000360121	NM_001030288.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10650.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAAGAGGG	NONE	.	.	.	.	.	ENSP00000353238	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000360121	Transcript	.	.	ENSG00000197471	11249	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LEUK_HUMAN	SPN	HGNC	C9JUK7_HUMAN,A8K9B1_HUMAN	.	UPI000012E5AA	SNV	SPN,3_prime_UTR_variant,,ENST00000360121,;QPRT,intron_variant,,ENST00000449759,;SPN,downstream_gene_variant,,ENST00000436527,;SPN,downstream_gene_variant,,ENST00000395389,;SPN,intron_variant,,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;	2468	93	94	SUCCESS
ZNF747	65988	.	GRCh37	16	30544349	30544349	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	10	30	0	ENST00000252799.3:c.*31A>G			ENST00000252799	NM_023931.2	155		0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10682.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGCTCCAAC	NONE	.	.	.	.	.	ENSP00000252799	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000252799	Transcript	.	.	ENSG00000169955	28350	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN747_HUMAN	ZNF747	HGNC	.	.	UPI000006E561	SNV	ZNF747,missense_variant,p.Glu155Gly,ENST00000535210,;ZNF747,missense_variant,p.Glu155Gly,ENST00000568028,;ZNF747,3_prime_UTR_variant,,ENST00000395094,;ZNF747,3_prime_UTR_variant,,ENST00000252799,;AC002310.13,downstream_gene_variant,,ENST00000568114,;AC002310.12,upstream_gene_variant,,ENST00000569752,;AC002310.12,upstream_gene_variant,,ENST00000457283,;ZNF747,missense_variant,p.Glu155Gly,ENST00000569360,;AC002310.10,downstream_gene_variant,,ENST00000569728,;	1275	30	27	SUCCESS
MRPL28	10573	.	GRCh37	16	417500	417500	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	7	41	0	ENST00000199706.8:c.*175A>T			ENST00000199706	NM_006428.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32349.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCTGGGGA	NONE	.	.	.	.	.	ENSP00000199706	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000199706	Transcript	.	.	ENSG00000086504	14484	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM28_HUMAN	MRPL28	HGNC	Q4TT37_HUMAN,A2IDC7_HUMAN,A2IDC6_HUMAN	.	UPI00001678A4	SNV	MRPL28,splice_region_variant,,ENST00000429738,;MRPL28,3_prime_UTR_variant,,ENST00000199706,;TMEM8A,downstream_gene_variant,,ENST00000250930,;MRPL28,downstream_gene_variant,,ENST00000447696,;MRPL28,downstream_gene_variant,,ENST00000450882,;MRPL28,downstream_gene_variant,,ENST00000441883,;TMEM8A,downstream_gene_variant,,ENST00000431232,;TMEM8A,downstream_gene_variant,,ENST00000448854,;MRPL28,downstream_gene_variant,,ENST00000389675,;TMEM8A,downstream_gene_variant,,ENST00000424078,;MRPL28,non_coding_transcript_exon_variant,,ENST00000483764,;MRPL28,non_coding_transcript_exon_variant,,ENST00000481453,;MRPL28,non_coding_transcript_exon_variant,,ENST00000461550,;MRPL28,non_coding_transcript_exon_variant,,ENST00000469744,;	982	41	20	SUCCESS
CNTNAP4	85445	.	GRCh37	16	76592642	76592642	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	23	41	0				ENST00000478060	NM_138994.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS10924.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAATGGAAA	NONE	.	62	.	.	.	ENSP00000418741	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000478060	Transcript	.	.	ENSG00000152910	18747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CNTP4_HUMAN	CNTNAP4	HGNC	H3BPC8_HUMAN	.	UPI000059D3C6	SNV	CNTNAP4,3_prime_UTR_variant,,ENST00000377504,;CNTNAP4,3_prime_UTR_variant,,ENST00000307431,;CNTNAP4,3_prime_UTR_variant,,ENST00000476707,;RP11-58C22.1,intron_variant,,ENST00000563764,;CNTNAP4,downstream_gene_variant,,ENST00000478060,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,downstream_gene_variant,,ENST00000469667,;	.	41	23	SUCCESS
FAM106A	80039	.	GRCh37	17	18428291	18428291	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1239914706	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	4	9	0	ENST00000392176.3:c.*1317G>A			ENST00000392176				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	GTCATCCCAGC	NONE	.	.	.	.	.	ENSP00000437812	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000392176	Transcript	.	.	ENSG00000213077	25682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F106A_HUMAN	FAM106A	HGNC	.	.	UPI000006FE37	SNV	FAM106A,3_prime_UTR_variant,,ENST00000392176,;CTD-2303H24.2,intron_variant,,ENST00000581595,;CTD-2303H24.2,intron_variant,,ENST00000608313,;CTD-2303H24.2,intron_variant,,ENST00000608141,;CTD-2303H24.2,intron_variant,,ENST00000425211,;CTD-2303H24.2,intron_variant,,ENST00000609805,;USP32P2,intron_variant,,ENST00000608376,;CTD-2303H24.2,intron_variant,,ENST00000609272,;CTD-2303H24.2,intron_variant,,ENST00000609193,;CTD-2303H24.2,intron_variant,,ENST00000608216,;CTD-2303H24.2,intron_variant,,ENST00000609831,;CTD-2303H24.2,intron_variant,,ENST00000609832,;CTD-2303H24.2,intron_variant,,ENST00000610155,;USP32P2,upstream_gene_variant,,ENST00000412260,;USP32P2,upstream_gene_variant,,ENST00000610104,;USP32P2,upstream_gene_variant,,ENST00000578409,;USP32P2,upstream_gene_variant,,ENST00000577869,;CTD-2303H24.2,downstream_gene_variant,,ENST00000446853,;CTD-2303H24.2,upstream_gene_variant,,ENST00000608726,;CTD-2303H24.2,intron_variant,,ENST00000609578,;CTD-2303H24.2,intron_variant,,ENST00000608385,;CTD-2303H24.2,intron_variant,,ENST00000420856,;USP32P2,upstream_gene_variant,,ENST00000414432,;SRP68P2,upstream_gene_variant,,ENST00000456184,;	1870	9	22	SUCCESS
KCNJ12	3768	.	GRCh37	17	21320291	21320291	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	8	73	0	ENST00000331718.5:c.*335T>A			ENST00000331718	NM_001194958.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11219.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTGCTGTCCA	NONE	.	.	.	.	.	ENSP00000463778	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000583088	Transcript	.	.	ENSG00000184185	6258	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	IRK12_HUMAN	KCNJ12	HGNC	.	.	UPI00000725C7	SNV	KCNJ12,3_prime_UTR_variant,,ENST00000331718,;KCNJ12,3_prime_UTR_variant,,ENST00000583088,;	2532	73	51	SUCCESS
KRTAP4-7	100132476	.	GRCh37	17	39240938	39240938	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	41	109	0	ENST00000391417.4:c.*12T>A			ENST00000391417	NM_033061.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45673.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGGCTC	NONE	.	.	.	.	.	ENSP00000375236	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391417	Transcript	.	.	ENSG00000240871	18898	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KRA47_HUMAN	KRTAP4-7	HGNC	.	.	UPI00001B0238	SNV	KRTAP4-7,3_prime_UTR_variant,,ENST00000391417,;	480	109	95	SUCCESS
KRTAP4-11	653240	.	GRCh37	17	39273796	39273796	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	22	0	ENST00000391413.2:c.*184C>T			ENST00000391413	NM_033059.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45675.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAGGGAGTTT	NONE	.	.	.	.	.	ENSP00000375232	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000391413	Transcript	.	.	ENSG00000212721	18911	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KR411_HUMAN	KRTAP4-11	HGNC	.	.	UPI00001AFBF7	SNV	KRTAP4-11,3_prime_UTR_variant,,ENST00000391413,;	811	22	30	SUCCESS
LRRC37A4P	55073	.	GRCh37	17	43580780	43580780	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	16	69	0				ENST00000581296				0	.	.	.	.	.	A	.	transcribed_unprocessed_pseudogene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	TCAGCTGGACT	NONE	.	4695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000581296	Transcript	.	.	ENSG00000214425	25479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	LRRC37A4P	HGNC	.	.	.	SNV	RP11-798G7.5,non_coding_transcript_exon_variant,,ENST00000253803,;LRRC37A4P,downstream_gene_variant,,ENST00000579913,;LRRC37A4P,intron_variant,,ENST00000398305,;LRRC37A4P,downstream_gene_variant,,ENST00000581296,;	.	69	43	SUCCESS
ZFP3	124961	.	GRCh37	17	4997422	4997422	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	23	55	0	ENST00000318833.3:c.*1114T>A			ENST00000318833	NM_153018.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11067.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCATGACCT	NONE	.	.	.	.	.	ENSP00000320347	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318833	Transcript	.	.	ENSG00000180787	12861	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP3_HUMAN	ZFP3	HGNC	.	.	UPI0000070244	SNV	ZFP3,3_prime_UTR_variant,,ENST00000318833,;	2959	55	29	SUCCESS
ALOX12	239	.	GRCh37	17	6913803	6913803	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2	11	30	0	ENST00000251535.6:c.*61T>A			ENST00000251535	NM_000697.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11084.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	TATCTTGAATT	NONE	.	.	.	.	.	ENSP00000251535	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000251535	Transcript	.	.	ENSG00000108839	429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LOX12_HUMAN	ALOX12	HGNC	.	.	UPI000013CD03	SNV	ALOX12,3_prime_UTR_variant,,ENST00000251535,;AC027763.2,intron_variant,,ENST00000573939,;AC027763.2,intron_variant,,ENST00000574377,;AC027763.2,intron_variant,,ENST00000399541,;AC027763.2,intron_variant,,ENST00000575889,;AC027763.2,intron_variant,,ENST00000399540,;AC027763.2,intron_variant,,ENST00000575727,;RNASEK,upstream_gene_variant,,ENST00000570898,;RNASEK,upstream_gene_variant,,ENST00000552842,;C17orf49,upstream_gene_variant,,ENST00000546760,;AC040977.1,downstream_gene_variant,,ENST00000593646,;RNASEK,upstream_gene_variant,,ENST00000402093,;C17orf49,upstream_gene_variant,,ENST00000546495,;RNASEK-C17orf49,upstream_gene_variant,,ENST00000547302,;RNASEK,upstream_gene_variant,,ENST00000552321,;C17orf49,upstream_gene_variant,,ENST00000552402,;C17orf49,upstream_gene_variant,,ENST00000552775,;C17orf49,upstream_gene_variant,,ENST00000439424,;RNASEK,upstream_gene_variant,,ENST00000548577,;RP11-589P10.7,intron_variant,,ENST00000572547,;ALOX12,non_coding_transcript_exon_variant,,ENST00000406228,;AC027763.2,intron_variant,,ENST00000571010,;AC027763.2,intron_variant,,ENST00000570562,;AC027763.2,intron_variant,,ENST00000572385,;RNASEK,upstream_gene_variant,,ENST00000549393,;RNASEK,upstream_gene_variant,,ENST00000546395,;RNASEK-C17orf49,upstream_gene_variant,,ENST00000549775,;C17orf49,upstream_gene_variant,,ENST00000549857,;RNASEK,upstream_gene_variant,,ENST00000552176,;RNASEK,upstream_gene_variant,,ENST00000575822,;RNASEK,upstream_gene_variant,,ENST00000552039,;RNASEK-C17orf49,upstream_gene_variant,,ENST00000547863,;RNASEK-C17orf49,upstream_gene_variant,,ENST00000607564,;	2106	30	13	SUCCESS
KCTD2	23510	.	GRCh37	17	73059163	73059163	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	30	82	0	ENST00000322444.6:c.*21A>T			ENST00000322444	NM_015353.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32728.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCCAGACCT	NONE	.	.	.	.	.	ENSP00000312814	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000322444	Transcript	.	.	ENSG00000180901	21294	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCTD2_HUMAN	KCTD2	HGNC	J3QSC8_HUMAN	.	UPI00001C1FDC	SNV	KCTD2,3_prime_UTR_variant,,ENST00000322444,;KCTD2,3_prime_UTR_variant,,ENST00000581589,;KCTD2,non_coding_transcript_exon_variant,,ENST00000577516,;KCTD2,3_prime_UTR_variant,,ENST00000375286,;KCTD2,non_coding_transcript_exon_variant,,ENST00000579230,;RP11-1112G13.3,upstream_gene_variant,,ENST00000604684,;	819	82	62	SUCCESS
CBX8	57332	.	GRCh37	17	77768393	77768393	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	16	7	26	0	ENST00000269385.4:c.*41G>T			ENST00000269385	NM_020649.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11765.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACTCTCT	NONE	.	.	.	.	.	ENSP00000269385	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000269385	Transcript	.	.	ENSG00000141570	15962	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBX8_HUMAN	CBX8	HGNC	C9JM54_HUMAN	.	UPI000013D82A	SNV	CBX8,3_prime_UTR_variant,,ENST00000269385,;CBX8,downstream_gene_variant,,ENST00000427800,;CBX8,downstream_gene_variant,,ENST00000413392,;CBX8,downstream_gene_variant,,ENST00000485449,;	1329	26	24	SUCCESS
CCDC178	374864	.	GRCh37	18	30517920	30517920	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs755614116	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	25	55	0	ENST00000383096.3:c.*55G>T			ENST00000383096				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42424.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGAACTGTGT	NONE	.	.	.	.	.	ENSP00000372576	.	23/23	.	.	.	.	.	.	.	.	rs755614116	23/23	PASS	ENST00000383096	Transcript	.	.	ENSG00000166960	29588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC178_HUMAN	CCDC178	HGNC	J3QKU2_HUMAN	.	UPI000022A700	SNV	CCDC178,3_prime_UTR_variant,,ENST00000579916,;CCDC178,3_prime_UTR_variant,,ENST00000581524,;CCDC178,3_prime_UTR_variant,,ENST00000581852,;CCDC178,3_prime_UTR_variant,,ENST00000406524,;CCDC178,3_prime_UTR_variant,,ENST00000403303,;CCDC178,3_prime_UTR_variant,,ENST00000383096,;CCDC178,3_prime_UTR_variant,,ENST00000300227,;CCDC178,3_prime_UTR_variant,,ENST00000583930,;CCDC178,downstream_gene_variant,,ENST00000402325,;RP11-746B8.1,intron_variant,,ENST00000580366,;	2842	55	53	SUCCESS
PSTPIP2	9050	.	GRCh37	18	43565312	43565312	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	24	57	0	ENST00000409746.5:c.*113C>G			ENST00000409746	NM_024430.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32820.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGGGTTCAC	NONE	.	.	.	.	.	ENSP00000387261	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000409746	Transcript	.	.	ENSG00000152229	9581	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PPIP2_HUMAN	PSTPIP2	HGNC	.	.	UPI0000035DB3	SNV	PSTPIP2,3_prime_UTR_variant,,ENST00000409746,;PSTPIP2,3_prime_UTR_variant,,ENST00000589328,;RN7SKP26,downstream_gene_variant,,ENST00000410247,;PSTPIP2,intron_variant,,ENST00000588801,;	1190	57	41	SUCCESS
AP1M2	10053	.	GRCh37	19	10683715	10683715	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	24	43	0	ENST00000250244.6:c.*27A>T			ENST00000250244	NM_005498.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45964.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGTGTTCA	NONE	.	.	.	.	.	ENSP00000250244	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000250244	Transcript	.	.	ENSG00000129354	558	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP1M2_HUMAN	AP1M2	HGNC	K7EPR4_HUMAN	.	UPI0000124FEB	SNV	AP1M2,3_prime_UTR_variant,,ENST00000250244,;AP1M2,3_prime_UTR_variant,,ENST00000589348,;AP1M2,3_prime_UTR_variant,,ENST00000590923,;AP1M2,intron_variant,,ENST00000587069,;CDKN2D,upstream_gene_variant,,ENST00000335766,;AP1M2,downstream_gene_variant,,ENST00000592285,;AP1M2,downstream_gene_variant,,ENST00000591240,;CDKN2D,upstream_gene_variant,,ENST00000393599,;	1382	43	37	SUCCESS
ZNF146	7705	.	GRCh37	19	36729151	36729151	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	50	140	0	ENST00000443387.2:c.*930A>G			ENST00000443387	NM_007145.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12492.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTGTAAATTT	NONE	.	.	.	.	.	ENSP00000400391	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000456324	Transcript	.	.	ENSG00000167635	12931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	OZF_HUMAN	ZNF146	HGNC	.	.	UPI000013E6EC	SNV	ZNF146,3_prime_UTR_variant,,ENST00000443387,;ZNF146,3_prime_UTR_variant,,ENST00000456324,;ZNF565,intron_variant,,ENST00000355114,;ZNF146,downstream_gene_variant,,ENST00000586094,;ZNF146,downstream_gene_variant,,ENST00000591063,;ZNF146,downstream_gene_variant,,ENST00000587285,;	3258	140	122	SUCCESS
PAK4	10298	.	GRCh37	19	39669272	39669272	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	52	170	0	ENST00000358301.3:c.*53A>T			ENST00000358301	NM_001014832.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12528.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCACTGAG	NONE	.	.	.	.	.	ENSP00000469413	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000593690	Transcript	.	.	ENSG00000130669	16059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PAK4_HUMAN	PAK4	HGNC	M0R2X4_HUMAN,B4DUG0_HUMAN	.	UPI0000001281	SNV	PAK4,3_prime_UTR_variant,,ENST00000321944,;PAK4,3_prime_UTR_variant,,ENST00000360442,;PAK4,3_prime_UTR_variant,,ENST00000358301,;PAK4,3_prime_UTR_variant,,ENST00000599470,;PAK4,3_prime_UTR_variant,,ENST00000593690,;PAK4,3_prime_UTR_variant,,ENST00000597715,;PAK4,3_prime_UTR_variant,,ENST00000599386,;PAK4,3_prime_UTR_variant,,ENST00000435673,;PAK4,downstream_gene_variant,,ENST00000602004,;PAK4,downstream_gene_variant,,ENST00000599657,;PAK4,downstream_gene_variant,,ENST00000600350,;	2256	170	102	SUCCESS
CLC	1178	.	GRCh37	19	40221954	40221954	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	34	0	ENST00000221804.4:c.*66A>G			ENST00000221804	NM_001828.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33025.1	.	RADIA|MUTECT|MUSE	.	CATGCTGTTAG	NONE	.	.	.	.	.	ENSP00000221804	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000221804	Transcript	.	.	ENSG00000105205	2014	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LEG10_HUMAN	CLC	HGNC	.	.	UPI0000161F7F	SNV	CLC,3_prime_UTR_variant,,ENST00000221804,;	571	34	12	SUCCESS
PSG6	5675	.	GRCh37	19	43406389	43406389	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	17	45	0				ENST00000292125	NM_002782.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12613.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTCATAAAT	NONE	.	1379	.	.	.	ENSP00000292125	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000292125	Transcript	.	.	ENSG00000170848	9523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PSG6_HUMAN	PSG6	HGNC	.	.	UPI00001327A1	SNV	PSG6,3_prime_UTR_variant,,ENST00000187910,;PSG6,3_prime_UTR_variant,,ENST00000402603,;PSG6,downstream_gene_variant,,ENST00000292125,;PSG6,3_prime_UTR_variant,,ENST00000599753,;PSG6,downstream_gene_variant,,ENST00000595062,;	.	45	38	SUCCESS
PSG11	5680	.	GRCh37	19	43511961	43511961	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	23	0	ENST00000320078.7:c.*274A>T			ENST00000320078	NM_002785.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12614.2	.	MUTECT|MUSE	.	AAATCTGGAGG	NONE	.	.	.	.	.	ENSP00000384995	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000401740	Transcript	.	.	ENSG00000243130	9516	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PSG11_HUMAN	PSG11	HGNC	.	.	UPI000004EE8C	SNV	PSG11,3_prime_UTR_variant,,ENST00000401740,;PSG11,3_prime_UTR_variant,,ENST00000403486,;PSG11,3_prime_UTR_variant,,ENST00000320078,;PSG11,downstream_gene_variant,,ENST00000306322,;PSG11,downstream_gene_variant,,ENST00000599976,;PSG11,3_prime_UTR_variant,,ENST00000593983,;PSG11,downstream_gene_variant,,ENST00000593994,;	1454	23	23	SUCCESS
PSG2	5670	.	GRCh37	19	43568607	43568607	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs1058160	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	43	45	88	0	ENST00000406487.1:c.*187A>C			ENST00000406487	NM_031246.3			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS12616.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AACATTGAGTA	NONE	by1000G	.	.	G:0.001	.	ENSP00000385706	G:0	6/6	.	.	.	.	.	.	.	.	rs1058160	6/6	PASS	ENST00000406487	Transcript	.	G:0.0002	ENSG00000242221	9519	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	PSG2_HUMAN	PSG2	HGNC	.	.	UPI000013CCF5	SNV	PSG2,3_prime_UTR_variant,,ENST00000406487,;PSG2,downstream_gene_variant,,ENST00000329509,;	1294	89	88	SUCCESS
PSG9	5678	.	GRCh37	19	43757557	43757557	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	16	18	0	ENST00000270077.3:c.*204T>C			ENST00000270077	NM_002784.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS12618.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTATACTT	NONE	.	.	.	.	.	ENSP00000270077	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000270077	Transcript	.	.	ENSG00000183668	9526	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PSG9_HUMAN	PSG9	HGNC	Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN	.	UPI00001327A5	SNV	PSG9,3_prime_UTR_variant,,ENST00000443718,;PSG9,3_prime_UTR_variant,,ENST00000593948,;PSG9,3_prime_UTR_variant,,ENST00000291752,;PSG9,3_prime_UTR_variant,,ENST00000270077,;PSG9,intron_variant,,ENST00000418820,;PSG9,downstream_gene_variant,,ENST00000596730,;PSG9,downstream_gene_variant,,ENST00000244293,;CEACAMP10,upstream_gene_variant,,ENST00000489959,;PSG9,intron_variant,,ENST00000595404,;	1582	18	34	SUCCESS
LYPD5	284348	.	GRCh37	19	44301650	44301650	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	8	19	0	ENST00000377950.3:c.*93A>T			ENST00000377950	NM_001031749.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46096.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTACTTTAAC	NONE	.	.	.	.	.	ENSP00000367185	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000377950	Transcript	.	.	ENSG00000159871	26397	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LYPD5_HUMAN	LYPD5	HGNC	M0R1J4_HUMAN,M0QYY3_HUMAN	.	UPI00006A77F6	SNV	LYPD5,3_prime_UTR_variant,,ENST00000377950,;LYPD5,3_prime_UTR_variant,,ENST00000414615,;LYPD5,3_prime_UTR_variant,,ENST00000594013,;LYPD5,downstream_gene_variant,,ENST00000594049,;LYPD5,downstream_gene_variant,,ENST00000602179,;AC115522.3,upstream_gene_variant,,ENST00000595680,;LYPD5,non_coding_transcript_exon_variant,,ENST00000595666,;LYPD5,downstream_gene_variant,,ENST00000601224,;	930	19	14	SUCCESS
FEM1A	55527	.	GRCh37	19	4795073	4795073	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	39	122	0	ENST00000269856.3:c.*1197A>T			ENST00000269856	NM_018708.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12135.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCCACTAGC	NONE	.	.	.	.	.	ENSP00000269856	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000269856	Transcript	.	.	ENSG00000141965	16934	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FEM1A_HUMAN	FEM1A	HGNC	.	.	UPI0000073096	SNV	FEM1A,3_prime_UTR_variant,,ENST00000269856,;AC005523.3,upstream_gene_variant,,ENST00000598782,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000596170,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;	3346	122	88	SUCCESS
FPR3	2359	.	GRCh37	19	52328441	52328441	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	29	105	0	ENST00000339223.4:c.*378A>T			ENST00000339223	NM_002030.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12841.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAGAGAAAC	NONE	.	.	.	.	.	ENSP00000341821	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339223	Transcript	.	.	ENSG00000187474	3828	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FPR3_HUMAN	FPR3	HGNC	Q6L5J4_HUMAN	.	UPI000011DFC1	SNV	FPR3,3_prime_UTR_variant,,ENST00000339223,;FPR3,3_prime_UTR_variant,,ENST00000595991,;	1619	105	83	SUCCESS
OR7D2	162998	.	GRCh37	19	9297892	9297892	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	26	18	43	0	ENST00000344248.2:c.*496A>T			ENST00000344248	NM_175883.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32900.1	.	RADIA|MUTECT|MUSE	.	TTTAAACTCTC	NONE	.	.	.	.	.	ENSP00000345563	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000344248	Transcript	.	.	ENSG00000188000	8378	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	OR7D2_HUMAN	OR7D2	HGNC	.	.	UPI0000041C0C	SNV	OR7D2,3_prime_UTR_variant,,ENST00000344248,;OR7E16P,upstream_gene_variant,,ENST00000592975,;TCEB1P29,upstream_gene_variant,,ENST00000588193,;	1614	43	44	SUCCESS
ZNF121	7675	.	GRCh37	19	9676562	9676562	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	41	0	ENST00000320451.6:c.*54A>G			ENST00000320451	NM_001008727.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32902.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATTATGGTAT	NONE	.	.	.	.	.	ENSP00000326967	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000320451	Transcript	.	.	ENSG00000197961	12904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN121_HUMAN	ZNF121	HGNC	K7EQI1_HUMAN	.	UPI0000203287	SNV	ZNF121,3_prime_UTR_variant,,ENST00000586602,;ZNF121,3_prime_UTR_variant,,ENST00000320451,;ZNF121,downstream_gene_variant,,ENST00000591447,;ZNF121,upstream_gene_variant,,ENST00000590933,;	1459	41	36	SUCCESS
PRMT6	55170	.	GRCh37	1	107601021	107601021	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	68	7	91	0	ENST00000370078.1:c.*556T>A			ENST00000370078				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41360.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTAATTAAGGG	NONE	.	.	.	.	.	ENSP00000359095	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000370078	Transcript	.	.	ENSG00000198890	18241	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ANM6_HUMAN	PRMT6	HGNC	.	.	UPI000004B63D	SNV	PRMT6,3_prime_UTR_variant,,ENST00000370078,;PRMT6,3_prime_UTR_variant,,ENST00000361318,;	1721	91	75	SUCCESS
GSTM4	2948	.	GRCh37	1	110203962	110203962	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	97	0	ENST00000369836.4:c.*86A>T			ENST00000369836	NM_000850.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS807.1	.	MUTECT|MUSE	.	ATCCCAGCACC	NONE	.	.	.	.	.	ENSP00000358851	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000369836	Transcript	.	.	ENSG00000168765	4636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GSTM4_HUMAN	GSTM4	HGNC	.	.	UPI000012BCE8	SNV	GSTM4,3_prime_UTR_variant,,ENST00000369833,;GSTM4,3_prime_UTR_variant,,ENST00000336075,;GSTM4,3_prime_UTR_variant,,ENST00000369836,;GSTM4,intron_variant,,ENST00000326729,;GSTM4,non_coding_transcript_exon_variant,,ENST00000495742,;GSTM4,non_coding_transcript_exon_variant,,ENST00000493395,;GSTM4,non_coding_transcript_exon_variant,,ENST00000485640,;GSTM4,downstream_gene_variant,,ENST00000461767,;GSTM4,downstream_gene_variant,,ENST00000464733,;GSTM4,downstream_gene_variant,,ENST00000493171,;GSTM4,downstream_gene_variant,,ENST00000479578,;GSTM4,downstream_gene_variant,,ENST00000478397,;	1052	97	79	SUCCESS
REG4	83998	.	GRCh37	1	120336834	120336834	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	95	62	167	0	ENST00000256585.5:c.*407T>A			ENST00000256585	NM_032044.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS906.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTGCAGGCAA	NONE	.	.	.	.	.	ENSP00000346158	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000354219	Transcript	.	.	ENSG00000134193	22977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REG4_HUMAN	REG4	HGNC	.	.	UPI000003EE44	SNV	REG4,3_prime_UTR_variant,,ENST00000354219,;REG4,3_prime_UTR_variant,,ENST00000256585,;REG4,downstream_gene_variant,,ENST00000530654,;	1324	167	158	SUCCESS
PRDM2	7799	.	GRCh37	1	14149968	14149968	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	17	0	ENST00000235372.7:c.*338A>T			ENST00000235372	NM_012231.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS150.1	.	MUTECT|MUSE	.	TATGCAATTTT	NONE	.	.	.	.	.	ENSP00000235372	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000235372	Transcript	.	.	ENSG00000116731	9347	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRDM2_HUMAN	PRDM2	HGNC	S4R3F7_HUMAN,D6RJM6_HUMAN	.	UPI000013C9CD	SNV	PRDM2,3_prime_UTR_variant,,ENST00000235372,;PRDM2,3_prime_UTR_variant,,ENST00000376048,;PRDM2,3_prime_UTR_variant,,ENST00000503842,;PRDM2,downstream_gene_variant,,ENST00000505823,;	6351	17	12	SUCCESS
PRKAB2	5565	.	GRCh37	1	146631058	146631058	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	21	25	0	ENST00000254101.3:c.*86G>T			ENST00000254101	NM_005399.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS925.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAGCCTTCC	NONE	.	.	.	.	.	ENSP00000254101	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000254101	Transcript	.	.	ENSG00000131791	9379	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AAKB2_HUMAN	PRKAB2	HGNC	.	.	UPI00001250AF	SNV	PRKAB2,3_prime_UTR_variant,,ENST00000254101,;PRKAB2,downstream_gene_variant,,ENST00000425272,;PRKAB2,non_coding_transcript_exon_variant,,ENST00000496858,;PRKAB2,downstream_gene_variant,,ENST00000474939,;	1044	25	60	SUCCESS
GATAD2B	57459	.	GRCh37	1	153782459	153782459	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	11	0	ENST00000368655.4:c.*194C>G			ENST00000368655	NM_020699.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1054.1	.	MUTECT|MUSE	.	GCAGTGTGAAA	NONE	.	.	.	.	.	ENSP00000357644	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000368655	Transcript	.	.	ENSG00000143614	30778	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P66B_HUMAN	GATAD2B	HGNC	.	.	UPI0000071E1B	SNV	GATAD2B,3_prime_UTR_variant,,ENST00000368655,;	2220	11	27	SUCCESS
PIGC	5279	.	GRCh37	1	172410778	172410778	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	36	21	0	ENST00000344529.4:c.*91A>T			ENST00000344529				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1302.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATGCTGCTTC	NONE	.	.	.	.	.	ENSP00000356702	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000367728	Transcript	.	.	ENSG00000135845	8960	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PIGC_HUMAN	PIGC	HGNC	.	.	UPI0000131AB1	SNV	PIGC,3_prime_UTR_variant,,ENST00000367728,;PIGC,3_prime_UTR_variant,,ENST00000258324,;PIGC,3_prime_UTR_variant,,ENST00000344529,;C1orf105,intron_variant,,ENST00000367727,;C1orf105,upstream_gene_variant,,ENST00000488100,;PIGC,intron_variant,,ENST00000484368,;PIGC,downstream_gene_variant,,ENST00000478184,;	2449	21	47	SUCCESS
PLA2G4A	5321	.	GRCh37	1	186957673	186957673	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	87	17	54	0	ENST00000367466.3:c.*33G>T			ENST00000367466	NM_024420.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1372.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTGATGCTGAG	NONE	.	.	.	.	.	ENSP00000356436	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000367466	Transcript	.	.	ENSG00000116711	9035	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PA24A_HUMAN	PLA2G4A	HGNC	.	.	UPI0000203D76	SNV	PLA2G4A,3_prime_UTR_variant,,ENST00000442353,;PLA2G4A,3_prime_UTR_variant,,ENST00000367466,;	2435	54	104	SUCCESS
SLC26A9	115019	.	GRCh37	1	205884091	205884091	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	34	100	0	ENST00000367135.3:c.*394T>C			ENST00000367135	NM_052934.3	865		0	.	.	.	.	.	G	Y/H	protein_coding	YES	CCDS30989.1	2593	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGTACAGCA	NONE	.	.	.	.	.	ENSP00000356102	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000367134	Transcript	.	.	ENSG00000174502	14469	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	.	.	.	SLC26A9	HGNC	B1AVM8_HUMAN	.	UPI000013DF98	SNV	SLC26A9,missense_variant,p.Tyr865His,ENST00000340781,;SLC26A9,missense_variant,p.Tyr865His,ENST00000367134,;SLC26A9,3_prime_UTR_variant,,ENST00000367135,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;	2707	100	40	SUCCESS
GJC2	57165	.	GRCh37	1	228346812	228346812	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	41	123	0	ENST00000366714.2:c.*33G>A			ENST00000366714	NM_020435.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1569.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGAGGAGGG	NONE	.	.	.	.	.	ENSP00000355675	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000366714	Transcript	.	.	ENSG00000198835	17494	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXG2_HUMAN	GJC2	HGNC	.	.	UPI000034ECE8	SNV	GJC2,3_prime_UTR_variant,,ENST00000366714,;IBA57-AS1,downstream_gene_variant,,ENST00000366713,;IBA57-AS1,downstream_gene_variant,,ENST00000496552,;	1528	123	55	SUCCESS
NKAIN1	79570	.	GRCh37	1	31654487	31654487	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	45	34	0	ENST00000373736.2:c.*63G>T			ENST00000373736	NM_024522.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS339.2	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGGCCCGAG	NONE	.	.	.	.	.	ENSP00000362841	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000373736	Transcript	.	.	ENSG00000084628	25743	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	NKAI1_HUMAN	NKAIN1	HGNC	R4GNE2_HUMAN	.	UPI000004A116	SNV	NKAIN1,3_prime_UTR_variant,,ENST00000398657,;NKAIN1,3_prime_UTR_variant,,ENST00000526106,;NKAIN1,3_prime_UTR_variant,,ENST00000373736,;NKAIN1,3_prime_UTR_variant,,ENST00000263693,;NKAIN1,downstream_gene_variant,,ENST00000530145,;NKAIN1,non_coding_transcript_exon_variant,,ENST00000528449,;NKAIN1,downstream_gene_variant,,ENST00000533581,;	694	34	66	SUCCESS
RIMS3	9783	.	GRCh37	1	41092184	41092184	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	26	51	0	ENST00000372683.1:c.*5G>A			ENST00000372683				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30687.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTGACATCCT	NONE	.	.	.	.	.	ENSP00000361769	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372684	Transcript	.	.	ENSG00000117016	21292	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RIMS3_HUMAN	RIMS3	HGNC	.	.	UPI000006E06A	SNV	RIMS3,3_prime_UTR_variant,,ENST00000372683,;RIMS3,3_prime_UTR_variant,,ENST00000372684,;	1402	51	49	SUCCESS
KCNQ4	9132	.	GRCh37	1	41304266	41304266	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1027818816	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	8	55	0	ENST00000347132.5:c.*71T>C			ENST00000347132	NM_004700.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS456.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGCCTCCGGA	NONE	.	.	.	.	.	ENSP00000262916	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000347132	Transcript	.	.	ENSG00000117013	6298	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KCNQ4_HUMAN	KCNQ4	HGNC	.	.	UPI000013D35B	SNV	KCNQ4,3_prime_UTR_variant,,ENST00000443478,;KCNQ4,3_prime_UTR_variant,,ENST00000347132,;KCNQ4,downstream_gene_variant,,ENST00000509682,;KCNQ4,non_coding_transcript_exon_variant,,ENST00000506017,;	2241	55	32	SUCCESS
B4GALT2	8704	.	GRCh37	1	44456201	44456201	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	8	29	0	ENST00000356836.6:c.*81A>G			ENST00000356836	NM_001005417.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS55596.1	.	MUTECT|MUSE	.	TGTGGAGGACC	NONE	.	50	.	.	.	ENSP00000310696	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000309519	Transcript	.	.	ENSG00000117411	925	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	B4GT2_HUMAN	B4GALT2	HGNC	B3KQA5_HUMAN	.	UPI00017A6C37	SNV	B4GALT2,3_prime_UTR_variant,,ENST00000372324,;B4GALT2,3_prime_UTR_variant,,ENST00000356836,;B4GALT2,3_prime_UTR_variant,,ENST00000434555,;SLC6A9,downstream_gene_variant,,ENST00000372306,;B4GALT2,downstream_gene_variant,,ENST00000309519,;CCDC24,upstream_gene_variant,,ENST00000372318,;SLC6A9,downstream_gene_variant,,ENST00000372307,;CCDC24,upstream_gene_variant,,ENST00000466180,;CCDC24,upstream_gene_variant,,ENST00000479055,;CCDC24,upstream_gene_variant,,ENST00000472562,;B4GALT2,downstream_gene_variant,,ENST00000481924,;CCDC24,upstream_gene_variant,,ENST00000490064,;CCDC24,upstream_gene_variant,,ENST00000486504,;CCDC24,upstream_gene_variant,,ENST00000490563,;CCDC24,upstream_gene_variant,,ENST00000485811,;CCDC24,upstream_gene_variant,,ENST00000463846,;CCDC24,upstream_gene_variant,,ENST00000460543,;CCDC24,upstream_gene_variant,,ENST00000486064,;	.	29	25	SUCCESS
DMBX1	127343	.	GRCh37	1	46978226	46978226	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	6	22	0	ENST00000371956.4:c.*60C>T			ENST00000371956	NM_147192.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS536.1	.	MUTECT|MUSE	.	GTTATCCCTAG	NONE	.	.	.	.	.	ENSP00000353132	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360032	Transcript	.	.	ENSG00000197587	19026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DMBX1_HUMAN	DMBX1	HGNC	.	.	UPI0000070B63	SNV	DMBX1,3_prime_UTR_variant,,ENST00000360032,;DMBX1,3_prime_UTR_variant,,ENST00000371956,;	1208	22	14	SUCCESS
VAMP3	9341	.	GRCh37	1	7839802	7839802	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	69	0	ENST00000054666.6:c.*97A>G			ENST00000054666	NM_004781.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS88.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTCTAAAATT	NONE	.	.	.	.	.	ENSP00000054666	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000054666	Transcript	.	.	ENSG00000049245	12644	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VAMP3_HUMAN	VAMP3	HGNC	Q6FGG2_HUMAN,K7EKX0_HUMAN	.	UPI00001380F2	SNV	VAMP3,3_prime_UTR_variant,,ENST00000470357,;VAMP3,3_prime_UTR_variant,,ENST00000054666,;PER3,upstream_gene_variant,,ENST00000377541,;PER3,upstream_gene_variant,,ENST00000377532,;PER3,upstream_gene_variant,,ENST00000361923,;RP3-467L1.6,downstream_gene_variant,,ENST00000602406,;VAMP3,downstream_gene_variant,,ENST00000487194,;	515	69	45	SUCCESS
CLCA4	22802	.	GRCh37	1	87046154	87046154	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	26	1	ENST00000370563.3:c.*126T>C			ENST00000370563	NM_012128.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41355.1	.	SOMATICSNIPER|VARSCANS	.	AAAAATAATTT	NONE	.	.	.	.	.	ENSP00000359594	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000370563	Transcript	.	.	ENSG00000016602	2018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLCA4_HUMAN	CLCA4	HGNC	Q9NXP1_HUMAN	.	UPI00000389E8	SNV	CLCA4,3_prime_UTR_variant,,ENST00000370563,;RP4-651E10.4,intron_variant,,ENST00000456587,;	2928	27	30	SUCCESS
PCSK2	5126	.	GRCh37	20	17462786	17462786	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	7	7	13	0	ENST00000262545.2:c.*71C>T			ENST00000262545	NM_002594.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13125.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCAGGCAGGCA	NONE	.	.	.	.	.	ENSP00000262545	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000262545	Transcript	.	.	ENSG00000125851	8744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NEC2_HUMAN	PCSK2	HGNC	Q9UM69_HUMAN	.	UPI0000000C6E	SNV	PCSK2,3_prime_UTR_variant,,ENST00000262545,;PCSK2,3_prime_UTR_variant,,ENST00000377899,;PCSK2,3_prime_UTR_variant,,ENST00000536609,;PCSK2,non_coding_transcript_exon_variant,,ENST00000459871,;DYNLT3P1,upstream_gene_variant,,ENST00000378574,;	2303	13	14	SUCCESS
CST3	1471	.	GRCh37	20	23614426	23614426	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	9	19	0	ENST00000376925.3:c.*127A>G			ENST00000376925	NM_000099.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13158.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTCTGTCTC	NONE	.	.	.	.	.	ENSP00000381448	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000398411	Transcript	1	.	ENSG00000101439	2475	.	.	MODIFIER	3/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYTC_HUMAN	CST3	HGNC	E9RH26_HUMAN	.	UPI000002B9AD	SNV	CST3,3_prime_UTR_variant,,ENST00000376925,;CST3,3_prime_UTR_variant,,ENST00000398409,;CST3,intron_variant,,ENST00000398411,;RP11-218C14.8,upstream_gene_variant,,ENST00000602977,;	.	19	14	SUCCESS
PROCR	10544	.	GRCh37	20	33764762	33764762	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	27	0	ENST00000216968.4:c.*146A>G			ENST00000216968	NM_006404.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13248.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGAAGATTT	NONE	.	.	.	.	.	ENSP00000216968	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000216968	Transcript	.	.	ENSG00000101000	9452	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPCR_HUMAN	PROCR	HGNC	.	.	UPI000012A08E	SNV	PROCR,3_prime_UTR_variant,,ENST00000216968,;EDEM2,intron_variant,,ENST00000540582,;	945	27	17	SUCCESS
SOGA1	140710	.	GRCh37	20	35406236	35406236	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	13	54	0	ENST00000237536.4:c.*8652A>G			ENST00000237536	NM_080627.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54459.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGCTCTCTT	NONE	.	.	.	.	.	ENSP00000237536	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000237536	Transcript	.	.	ENSG00000149639	16111	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOGA1_HUMAN	SOGA1	HGNC	I3L0I1_HUMAN,F2FB34_HUMAN	.	UPI0000E5A319	SNV	SOGA1,splice_acceptor_variant,,ENST00000279034,;SOGA1,3_prime_UTR_variant,,ENST00000237536,;DSN1,upstream_gene_variant,,ENST00000447406,;DSN1,upstream_gene_variant,,ENST00000373745,;DSN1,upstream_gene_variant,,ENST00000438549,;DSN1,upstream_gene_variant,,ENST00000373734,;DSN1,upstream_gene_variant,,ENST00000448110,;DSN1,upstream_gene_variant,,ENST00000373740,;DSN1,upstream_gene_variant,,ENST00000426836,;DSN1,upstream_gene_variant,,ENST00000373750,;DSN1,upstream_gene_variant,,ENST00000492703,;DSN1,upstream_gene_variant,,ENST00000473615,;DSN1,upstream_gene_variant,,ENST00000480153,;	13980	54	46	SUCCESS
GHRH	2691	.	GRCh37	20	35879598	35879598	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs753667165	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	30	56	0	ENST00000237527.3:c.*18C>A			ENST00000237527	NM_001184731.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13292.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCCGGGTCA	NONE	byFrequency	.	.	.	.	ENSP00000362716	.	5/5	.	.	.	.	.	.	.	.	rs753667165	5/5	PASS	ENST00000373614	Transcript	.	.	ENSG00000118702	4265	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIB_HUMAN	GHRH	HGNC	.	.	UPI00000534AE	SNV	GHRH,3_prime_UTR_variant,,ENST00000373611,;GHRH,3_prime_UTR_variant,,ENST00000373614,;GHRH,3_prime_UTR_variant,,ENST00000237527,;	457	56	62	SUCCESS
WFDC10B	280664	.	GRCh37	20	44313307	44313307	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	20	0	ENST00000330523.5:c.*162A>G			ENST00000330523	NM_172006.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13365.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTTCTGGTTT	NONE	.	.	.	.	.	ENSP00000337466	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000335769	Transcript	.	.	ENSG00000182931	20479	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WF10B_HUMAN	WFDC10B	HGNC	.	.	UPI00000747AD	SNV	WFDC10B,3_prime_UTR_variant,,ENST00000330523,;WFDC10B,3_prime_UTR_variant,,ENST00000335769,;	460	20	18	SUCCESS
CBLN4	140689	.	GRCh37	20	54573533	54573533	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	48	0	ENST00000064571.2:c.*80G>T			ENST00000064571	NM_080617.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13448.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAATCCAATGA	NONE	.	.	.	.	.	ENSP00000064571	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000064571	Transcript	.	.	ENSG00000054803	16231	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CBLN4_HUMAN	CBLN4	HGNC	.	.	UPI0000046135	SNV	CBLN4,3_prime_UTR_variant,,ENST00000064571,;	1987	48	40	SUCCESS
ZNF831	128611	.	GRCh37	20	57829806	57829806	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	98	68	156	1	ENST00000371030.2:c.*8A>T			ENST00000371030	NM_178457.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42894.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTCCAGAGAA	NONE	.	.	.	.	.	ENSP00000360069	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000371030	Transcript	.	.	ENSG00000124203	16167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN831_HUMAN	ZNF831	HGNC	.	.	UPI00001D82E4	SNV	ZNF831,3_prime_UTR_variant,,ENST00000371030,;	5042	157	166	SUCCESS
TMPRSS15	5651	.	GRCh37	21	19642158	19642158	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	21	60	0	ENST00000284885.3:c.*128T>C			ENST00000284885	NM_002772.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13571.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTCATTGAC	NONE	.	.	.	.	.	ENSP00000284885	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000284885	Transcript	.	.	ENSG00000154646	9490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ENTK_HUMAN	TMPRSS15	HGNC	Q9NR95_HUMAN	.	UPI000013DDBE	SNV	TMPRSS15,3_prime_UTR_variant,,ENST00000284885,;CHODL,downstream_gene_variant,,ENST00000299295,;CHODL,downstream_gene_variant,,ENST00000543733,;CHODL,downstream_gene_variant,,ENST00000400135,;CHODL,downstream_gene_variant,,ENST00000338326,;CHODL,downstream_gene_variant,,ENST00000400131,;CHODL,downstream_gene_variant,,ENST00000400127,;CHODL,downstream_gene_variant,,ENST00000400128,;	3222	60	40	SUCCESS
ITSN1	6453	.	GRCh37	21	35260750	35260750	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	16	0	ENST00000381318.3:c.*146A>T			ENST00000381318	NM_003024.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33545.1	.	RADIA|MUTECT|MUSE	.	CTCCTAGGAAT	NONE	.	.	.	.	.	ENSP00000370719	.	40/40	.	.	.	.	.	.	.	.	.	40/40	PASS	ENST00000381318	Transcript	.	.	ENSG00000205726	6183	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ITSN1_HUMAN	ITSN1	HGNC	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN	.	UPI00001403C6	SNV	ITSN1,3_prime_UTR_variant,,ENST00000381285,;ITSN1,3_prime_UTR_variant,,ENST00000381318,;ITSN1,3_prime_UTR_variant,,ENST00000399367,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,downstream_gene_variant,,ENST00000381284,;ITSN1,downstream_gene_variant,,ENST00000415023,;ITSN1,downstream_gene_variant,,ENST00000399326,;ITSN1,downstream_gene_variant,,ENST00000437442,;ITSN1,downstream_gene_variant,,ENST00000420666,;	5600	16	11	SUCCESS
POTEH	23784	.	GRCh37	22	16256547	16256547	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	308	28	359	0	ENST00000343518.6:c.*132T>A			ENST00000343518	NM_001136213.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46658.1	.	MUTECT|MUSE|VARSCANS	.	CCTCCAAATAT	NONE	.	.	.	.	.	ENSP00000340610	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,3_prime_UTR_variant,,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;LA16c-3G11.7,upstream_gene_variant,,ENST00000339523,;	1822	359	336	SUCCESS
POTEH	23784	.	GRCh37	22	16256669	16256669	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	237	19	278	0	ENST00000343518.6:c.*10T>G			ENST00000343518	NM_001136213.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46658.1	.	MUTECT|MUSE	.	TAACTAAGAGA	NONE	.	.	.	.	.	ENSP00000340610	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000343518	Transcript	.	.	ENSG00000198062	133	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	POTEH_HUMAN	POTEH	HGNC	.	.	UPI0000E5A425	SNV	POTEH,3_prime_UTR_variant,,ENST00000343518,;POTEH,3_prime_UTR_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;LA16c-3G11.7,upstream_gene_variant,,ENST00000339523,;	1700	278	256	SUCCESS
SMARCB1	6598	.	GRCh37	22	24177201	24177201	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	5	10	0				ENST00000263121	NM_003073.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46672.1	.	RADIA|MUTECT|MUSE	.	GTGGCACCCAT	NONE	.	.	.	.	.	ENSP00000384744	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000406855	Transcript	.	.	ENSG00000099958	14236	.	.	MODIFIER	6/6	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DERL3_HUMAN	DERL3	HGNC	.	.	UPI00001C2050	SNV	DERL3,3_prime_UTR_variant,,ENST00000404056,;DERL3,intron_variant,,ENST00000406855,;SMARCB1,downstream_gene_variant,,ENST00000407082,;DERL3,downstream_gene_variant,,ENST00000318109,;SMARCB1,downstream_gene_variant,,ENST00000407422,;DERL3,downstream_gene_variant,,ENST00000476077,;SMARCB1,downstream_gene_variant,,ENST00000263121,;SMARCB1,downstream_gene_variant,,ENST00000344921,;DERL3,intron_variant,,ENST00000464023,;DERL3,downstream_gene_variant,,ENST00000464034,;DERL3,downstream_gene_variant,,ENST00000493596,;DERL3,downstream_gene_variant,,ENST00000488272,;DERL3,non_coding_transcript_exon_variant,,ENST00000290730,;DERL3,downstream_gene_variant,,ENST00000464110,;	.	10	12	SUCCESS
TCN2	6948	.	GRCh37	22	31022529	31022529	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1244210879	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	10	87	0	ENST00000215838.3:c.*21A>T			ENST00000215838				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13881.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCCCAGCAGC	NONE	.	.	.	.	.	ENSP00000215838	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000215838	Transcript	.	.	ENSG00000185339	11653	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TCO2_HUMAN	TCN2	HGNC	.	.	UPI0000167BDB	SNV	TCN2,3_prime_UTR_variant,,ENST00000407817,;TCN2,3_prime_UTR_variant,,ENST00000405742,;TCN2,3_prime_UTR_variant,,ENST00000215838,;TCN2,3_prime_UTR_variant,,ENST00000450638,;TCN2,downstream_gene_variant,,ENST00000493542,;	1799	87	46	SUCCESS
C22orf24	25775	.	GRCh37	22	32330093	32330093	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	40	28	78	0	ENST00000248984.3:c.*11C>A			ENST00000248984	NM_015372.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46693.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCAGGAGGCT	NONE	.	.	.	.	.	ENSP00000248984	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000248984	Transcript	.	.	ENSG00000128254	23051	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CV024_HUMAN	C22orf24	HGNC	.	.	UPI0000071D69	SNV	C22orf24,3_prime_UTR_variant,,ENST00000248984,;C22orf24,3_prime_UTR_variant,,ENST00000543051,;C22orf24,non_coding_transcript_exon_variant,,ENST00000486651,;C22orf24,downstream_gene_variant,,ENST00000484682,;	661	78	69	SUCCESS
MGAT3	4248	.	GRCh37	22	39887120	39887120	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	22	54	0	ENST00000341184.6:c.*2166G>A			ENST00000341184	NM_002409.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13994.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGATGGGCCA	NONE	.	.	.	.	.	ENSP00000345270	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341184	Transcript	.	.	ENSG00000128268	7046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MGAT3_HUMAN	MGAT3	HGNC	B2R969_HUMAN,B0QY93_HUMAN	.	UPI00003765B6	SNV	MGAT3,3_prime_UTR_variant,,ENST00000341184,;MGAT3,downstream_gene_variant,,ENST00000418314,;MGAT3,downstream_gene_variant,,ENST00000429402,;	3983	54	37	SUCCESS
NFAM1	150372	.	GRCh37	22	42781111	42781111	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	8	40	0	ENST00000329021.5:c.*56T>A			ENST00000329021	NM_145912.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14034.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGGCAGGGGC	NONE	.	.	.	.	.	ENSP00000333680	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000329021	Transcript	.	.	ENSG00000235568	29872	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NFAM1_HUMAN	NFAM1	HGNC	.	.	UPI00000701BF	SNV	NFAM1,3_prime_UTR_variant,,ENST00000329021,;	907	40	24	SUCCESS
FHL2	2274	.	GRCh37	2	105977641	105977641	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	26	6	36	0	ENST00000322142.8:c.*99A>G			ENST00000322142	NM_001039492.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2070.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCAATGTGGC	NONE	.	.	.	.	.	ENSP00000350846	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358129	Transcript	.	.	ENSG00000115641	3703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHL2_HUMAN	FHL2	HGNC	Q6I9R8_HUMAN,Q53T40_HUMAN,Q53QP3_HUMAN,C9J3S8_HUMAN	.	UPI0000140D45	SNV	FHL2,3_prime_UTR_variant,,ENST00000393352,;FHL2,3_prime_UTR_variant,,ENST00000344213,;FHL2,3_prime_UTR_variant,,ENST00000409807,;FHL2,3_prime_UTR_variant,,ENST00000358129,;FHL2,3_prime_UTR_variant,,ENST00000393353,;FHL2,3_prime_UTR_variant,,ENST00000322142,;FHL2,3_prime_UTR_variant,,ENST00000336660,;FHL2,3_prime_UTR_variant,,ENST00000408995,;FHL2,3_prime_UTR_variant,,ENST00000409177,;AC012360.6,upstream_gene_variant,,ENST00000457290,;FHL2,3_prime_UTR_variant,,ENST00000530340,;FHL2,downstream_gene_variant,,ENST00000452732,;	1518	36	32	SUCCESS
RAB6C	84084	.	GRCh37	2	130738727	130738727	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	27	120	0	ENST00000410061.2:c.*274G>C			ENST00000410061	NM_032144.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS46408.1	.	RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCGTGTTCTT	NONE	.	.	.	.	.	ENSP00000387307	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000410061	Transcript	.	.	ENSG00000222014	16525	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAB6C_HUMAN	RAB6C	HGNC	.	.	UPI00001AF8C6	SNV	RAB6C,3_prime_UTR_variant,,ENST00000410061,;RAB6C-AS1,upstream_gene_variant,,ENST00000412425,;	1493	120	83	SUCCESS
AMER3	205147	.	GRCh37	2	131524382	131524382	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	19	37	0				ENST00000321420				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2164.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCTGTGCGC	NONE	.	.	.	.	.	ENSP00000392700	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000423981	Transcript	.	.	ENSG00000178171	26771	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AMER3_HUMAN	AMER3	HGNC	C9JS07_HUMAN,C9J4B8_HUMAN	.	UPI0000D61239	SNV	AMER3,3_prime_UTR_variant,,ENST00000423981,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000431758,;	4847	37	40	SUCCESS
ARHGEF4	50649	.	GRCh37	2	131674130	131674130	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	42	0				ENST00000326016	NM_015320.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2165.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGGGCCGGCA	NONE	.	94	.	.	.	ENSP00000316845	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000326016	Transcript	.	.	ENSG00000136002	684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARHG4_HUMAN	ARHGEF4	HGNC	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN	.	UPI00001417F6	SNV	ARHGEF4,missense_variant,p.Pro541Thr,ENST00000409359,;ARHGEF4,upstream_gene_variant,,ENST00000392953,;ARHGEF4,upstream_gene_variant,,ENST00000525839,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000326016,;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;	.	42	29	SUCCESS
ANKRD30BL	554226	.	GRCh37	2	132905600	132905600	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	101	99	181	1	ENST00000409867.1:c.*104C>A			ENST00000409867				0	.	.	.	.	.	T	.	nonsense_mediated_decay	YES	.	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TATTTGTTCTT	NONE	.	.	.	.	.	ENSP00000295181	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000295181	Transcript	.	.	ENSG00000163046	35167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	A30BL_HUMAN	ANKRD30BL	HGNC	.	.	UPI000022BC26	SNV	ANKRD30BL,3_prime_UTR_variant,,ENST00000409867,;RNU6-1132P,downstream_gene_variant,,ENST00000459214,;ANKRD30BL,non_coding_transcript_exon_variant,,ENST00000465868,;ANKRD30BL,non_coding_transcript_exon_variant,,ENST00000470729,;ANKRD30BL,3_prime_UTR_variant,,ENST00000295181,;ANKRD30BL,non_coding_transcript_exon_variant,,ENST00000481691,;	1294	182	200	SUCCESS
GPR39	2863	.	GRCh37	2	133404017	133404017	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	13	41	0	ENST00000329321.3:c.*838T>C			ENST00000329321	NM_001508.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAGATAGATG	NONE	.	.	.	.	.	ENSP00000327417	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329321	Transcript	.	.	ENSG00000183840	4496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR39_HUMAN	GPR39	HGNC	Q53RU7_HUMAN,B3KVZ1_HUMAN,A4FVA5_HUMAN	.	UPI0000046406	SNV	GPR39,3_prime_UTR_variant,,ENST00000329321,;LYPD1,intron_variant,,ENST00000345008,;LYPD1,intron_variant,,ENST00000397463,;GPR39,non_coding_transcript_exon_variant,,ENST00000470071,;	2669	41	34	SUCCESS
CTLA4	1493	.	GRCh37	2	204737545	204737545	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	17	46	0	ENST00000302823.3:c.*10A>G			ENST00000302823	NM_005214.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2362.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCATTATGAAG	NONE	.	.	.	.	.	ENSP00000303939	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302823	Transcript	.	.	ENSG00000163599	2505	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTLA4_HUMAN	CTLA4	HGNC	Q9BZK2_HUMAN,Q8TDA6_HUMAN,Q0Q5F1_HUMAN,E9L3G3_HUMAN,E9L3G1_HUMAN,E9L3G0_HUMAN	.	UPI0000031FDF	SNV	CTLA4,3_prime_UTR_variant,,ENST00000302823,;CTLA4,3_prime_UTR_variant,,ENST00000427473,;CTLA4,downstream_gene_variant,,ENST00000295854,;CTLA4,downstream_gene_variant,,ENST00000472206,;CTLA4,downstream_gene_variant,,ENST00000487393,;	839	46	33	SUCCESS
UGT1A6	54578	.	GRCh37	2	234681206	234681206	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs773424672	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	23	13	67	0	ENST00000305139.6:c.*1G>C			ENST00000305139	NM_001072.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33405.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGAGAAGTG	NONE	.	.	.	.	.	ENSP00000362508	.	5/5	.	.	.	.	.	.	.	.	rs773424672	5/5	PASS	ENST00000373409	Transcript	.	.	ENSG00000244474	12536	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UD14_HUMAN	UGT1A4	HGNC	Q8WX88_HUMAN,Q53QD2_HUMAN,B8K2E8_HUMAN	.	UPI0000001044	SNV	UGT1A4,3_prime_UTR_variant,,ENST00000373409,;UGT1A6,3_prime_UTR_variant,,ENST00000305139,;UGT1A3,3_prime_UTR_variant,,ENST00000482026,;UGT1A6,3_prime_UTR_variant,,ENST00000373424,;UGT1A8,3_prime_UTR_variant,,ENST00000608381,;UGT1A7,3_prime_UTR_variant,,ENST00000373426,;UGT1A8,3_prime_UTR_variant,,ENST00000609637,;UGT1A8,3_prime_UTR_variant,,ENST00000609767,;UGT1A5,3_prime_UTR_variant,,ENST00000373414,;UGT1A1,3_prime_UTR_variant,,ENST00000305208,;UGT1A10,3_prime_UTR_variant,,ENST00000344644,;UGT1A8,3_prime_UTR_variant,,ENST00000373450,;UGT1A9,3_prime_UTR_variant,,ENST00000354728,;UGT1A10,downstream_gene_variant,,ENST00000373445,;UGT1A8,downstream_gene_variant,,ENST00000608383,;MROH2A,upstream_gene_variant,,ENST00000454283,;UGT1A8,downstream_gene_variant,,ENST00000360418,;MROH2A,upstream_gene_variant,,ENST00000428446,;UGT1A6,downstream_gene_variant,,ENST00000406651,;MROH2A,upstream_gene_variant,,ENST00000430892,;UGT1A4,3_prime_UTR_variant,,ENST00000450233,;UGT1A6,downstream_gene_variant,,ENST00000446481,;	1649	67	37	SUCCESS
KIF3C	3797	.	GRCh37	2	26151786	26151786	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	8	14	0	ENST00000264712.3:c.*61T>C			ENST00000264712	NM_002254.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1719.1	.	MUTECT|MUSE	.	AGATGAGCCAG	NONE	.	.	.	.	.	ENSP00000264712	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000264712	Transcript	.	.	ENSG00000084731	6321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KIF3C_HUMAN	KIF3C	HGNC	.	.	UPI000013D55A	SNV	KIF3C,3_prime_UTR_variant,,ENST00000264712,;KIF3C,3_prime_UTR_variant,,ENST00000405914,;KIF3C,downstream_gene_variant,,ENST00000496378,;KIF3C,3_prime_UTR_variant,,ENST00000455394,;KIF3C,3_prime_UTR_variant,,ENST00000417737,;	3023	14	21	SUCCESS
SRSF7	6432	.	GRCh37	2	38972063	38972063	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	10	0	ENST00000313117.6:c.*212C>T			ENST00000313117	NM_001195446.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS33183.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGTGCCAAA	NONE	.	.	.	.	.	ENSP00000325905	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000313117	Transcript	.	.	ENSG00000115875	10789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRSF7_HUMAN	SRSF7	HGNC	.	.	UPI000000D853	SNV	SRSF7,3_prime_UTR_variant,,ENST00000452806,;SRSF7,3_prime_UTR_variant,,ENST00000313117,;SRSF7,3_prime_UTR_variant,,ENST00000446327,;SRSF7,3_prime_UTR_variant,,ENST00000409276,;GALM,downstream_gene_variant,,ENST00000434934,;SRSF7,3_prime_UTR_variant,,ENST00000431066,;SRSF7,3_prime_UTR_variant,,ENST00000425778,;SRSF7,3_prime_UTR_variant,,ENST00000443213,;SRSF7,3_prime_UTR_variant,,ENST00000432873,;SRSF7,3_prime_UTR_variant,,ENST00000425941,;SRSF7,non_coding_transcript_exon_variant,,ENST00000477635,;SRSF7,downstream_gene_variant,,ENST00000487773,;SRSF7,downstream_gene_variant,,ENST00000415527,;	1167	10	17	SUCCESS
SOX11	6664	.	GRCh37	2	5838974	5838974	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	74	222	0	ENST00000322002.3:c.*4795G>C			ENST00000322002	NM_003108.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1654.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GACTTGAAATC	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	6176	222	168	SUCCESS
BMP10	27302	.	GRCh37	2	69092631	69092631	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	13	20	0	ENST00000295379.1:c.*132T>G			ENST00000295379	NM_014482.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS1890.1	.	MUTECT|MUSE	.	CCTACAACAAA	NONE	.	.	.	.	.	ENSP00000295379	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295379	Transcript	.	.	ENSG00000163217	20869	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	BMP10_HUMAN	BMP10	HGNC	.	.	UPI0000126A11	SNV	BMP10,3_prime_UTR_variant,,ENST00000295379,;	1566	20	25	SUCCESS
BMP10	27302	.	GRCh37	2	69092680	69092680	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	25	16	26	0	ENST00000295379.1:c.*83T>C			ENST00000295379	NM_014482.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1890.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGTACACCC	NONE	.	.	.	.	.	ENSP00000295379	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295379	Transcript	.	.	ENSG00000163217	20869	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	BMP10_HUMAN	BMP10	HGNC	.	.	UPI0000126A11	SNV	BMP10,3_prime_UTR_variant,,ENST00000295379,;	1517	26	41	SUCCESS
IGKC	3514	.	GRCh37	2	89161519	89161519	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	17	20	46	0				ENST00000390237				0	.	.	.	.	.	C	.	IG_C_gene	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTCAACT	NONE	.	4323	.	.	.	ENSP00000374777	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000390237	Transcript	.	.	ENSG00000211592	5716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IGKC_HUMAN	IGKC	HGNC	.	.	UPI0000F30373	SNV	IGKC,upstream_gene_variant,,ENST00000390237,;IGKJ2,upstream_gene_variant,,ENST00000390241,;IGKJ5,upstream_gene_variant,,ENST00000390238,;IGKJ1,upstream_gene_variant,,ENST00000390242,;IGKJ4,upstream_gene_variant,,ENST00000390239,;IGKJ3,upstream_gene_variant,,ENST00000390240,;AC096579.7,non_coding_transcript_exon_variant,,ENST00000430694,;AC096579.7,upstream_gene_variant,,ENST00000418209,;AC096579.13,upstream_gene_variant,,ENST00000452230,;	.	46	37	SUCCESS
ZNF514	84874	.	GRCh37	2	95814931	95814931	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs553292893	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	16	45	0	ENST00000295208.2:c.*96G>T			ENST00000295208	NM_032788.1			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS2011.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCACATACA	NONE	by1000G	.	.	A:0	.	ENSP00000295208	A:0	5/5	.	.	.	.	.	.	.	.	rs553292893	5/5	PASS	ENST00000295208	Transcript	.	A:0.0002	ENSG00000144026	25894	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	A:0.001	.	.	ZN514_HUMAN	ZNF514	HGNC	Q658L7_HUMAN	.	UPI0000070647	SNV	ZNF514,3_prime_UTR_variant,,ENST00000411425,;ZNF514,3_prime_UTR_variant,,ENST00000295208,;ZNF514,downstream_gene_variant,,ENST00000447814,;MRPS5,non_coding_transcript_exon_variant,,ENST00000475040,;ZNF514,non_coding_transcript_exon_variant,,ENST00000496060,;	1762	45	35	SUCCESS
HRH1	3269	.	GRCh37	3	11303885	11303885	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	26	99	0	ENST00000397056.1:c.*1698T>A			ENST00000397056	NM_000861.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2604.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTGCCTGTACA	NONE	.	.	.	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,3_prime_UTR_variant,,ENST00000431010,;HRH1,3_prime_UTR_variant,,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;HRH1,downstream_gene_variant,,ENST00000438284,;	3353	99	68	SUCCESS
HRH1	3269	.	GRCh37	3	11304437	11304437	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	16	62	0	ENST00000397056.1:c.*2250T>A			ENST00000397056	NM_000861.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2604.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACCTGGATT	NONE	.	.	.	.	.	ENSP00000380247	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000397056	Transcript	.	.	ENSG00000196639	5182	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HRH1_HUMAN	HRH1	HGNC	.	.	UPI0000050401	SNV	HRH1,3_prime_UTR_variant,,ENST00000431010,;HRH1,3_prime_UTR_variant,,ENST00000397056,;HRH1,downstream_gene_variant,,ENST00000413416,;HRH1,downstream_gene_variant,,ENST00000438284,;	3905	62	64	SUCCESS
C3orf30	0	.	GRCh37	3	118870256	118870256	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	8	23	0	ENST00000295622.1:c.*117T>A			ENST00000295622	NM_152539.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2984.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCTGTAAC	NONE	.	.	.	.	.	ENSP00000295622	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000295622	Transcript	.	.	ENSG00000163424	26553	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC030_HUMAN	C3orf30	HGNC	.	.	UPI000013E280	SNV	C3orf30,3_prime_UTR_variant,,ENST00000473121,;C3orf30,3_prime_UTR_variant,,ENST00000295622,;C3orf30,intron_variant,,ENST00000460150,;RP11-484M3.5,intron_variant,,ENST00000490594,;C3orf30,downstream_gene_variant,,ENST00000492792,;C3orf30,intron_variant,,ENST00000494105,;	1768	23	19	SUCCESS
SEMA5B	54437	.	GRCh37	3	122628843	122628843	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	5	24	0	ENST00000357599.3:c.*147A>G			ENST00000357599	NM_001256348.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58848.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTCTCTGAA	NONE	.	.	.	.	.	ENSP00000389588	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000451055	Transcript	.	.	ENSG00000082684	10737	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SEM5B_HUMAN	SEMA5B	HGNC	C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN	.	UPI0002065011	SNV	SEMA5B,3_prime_UTR_variant,,ENST00000451541,;SEMA5B,3_prime_UTR_variant,,ENST00000357599,;SEMA5B,3_prime_UTR_variant,,ENST00000195173,;SEMA5B,3_prime_UTR_variant,,ENST00000451055,;SEMA5B,downstream_gene_variant,,ENST00000393583,;SEMA5B,3_prime_UTR_variant,,ENST00000475244,;	3776	24	17	SUCCESS
AGTR1	185	.	GRCh37	3	148460538	148460538	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	43	120	0	ENST00000349243.3:c.*636A>G			ENST00000349243	NM_000685.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3137.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGTTAAACTA	NONE	.	.	.	.	.	ENSP00000443186	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000542281	Transcript	.	.	ENSG00000144891	336	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AGTR1_HUMAN	AGTR1	HGNC	Q53YY0_HUMAN,D3DNG8_HUMAN	.	UPI0000039D66	SNV	AGTR1,3_prime_UTR_variant,,ENST00000404754,;AGTR1,3_prime_UTR_variant,,ENST00000542281,;AGTR1,3_prime_UTR_variant,,ENST00000418473,;AGTR1,3_prime_UTR_variant,,ENST00000402260,;AGTR1,3_prime_UTR_variant,,ENST00000497524,;AGTR1,3_prime_UTR_variant,,ENST00000349243,;AGTR1,downstream_gene_variant,,ENST00000461609,;AGTR1,downstream_gene_variant,,ENST00000474935,;AGTR1,downstream_gene_variant,,ENST00000475347,;	2162	120	91	SUCCESS
P2RY1	5028	.	GRCh37	3	152555058	152555058	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	28	71	0	ENST00000305097.3:c.*365T>A			ENST00000305097	NM_002563.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3169.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCAACTTGAGT	NONE	.	.	.	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,3_prime_UTR_variant,,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	2323	71	55	SUCCESS
P2RY1	5028	.	GRCh37	3	152555312	152555312	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	17	55	0	ENST00000305097.3:c.*619G>T			ENST00000305097	NM_002563.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3169.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAGTGATTGT	NONE	.	.	.	.	.	ENSP00000304767	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000305097	Transcript	.	.	ENSG00000169860	8539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	P2RY1_HUMAN	P2RY1	HGNC	.	.	UPI0000001C06	SNV	P2RY1,3_prime_UTR_variant,,ENST00000305097,;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;	2577	55	43	SUCCESS
IFT80	57560	.	GRCh37	3	159976290	159976290	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	49	0	ENST00000326448.7:c.*23A>G			ENST00000326448	NM_020800.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3188.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAAATTTCTT	NONE	.	.	.	.	.	ENSP00000312778	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000326448	Transcript	.	.	ENSG00000068885	29262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IFT80_HUMAN	IFT80	HGNC	C9JUJ1_HUMAN,C9JUI1_HUMAN,C9JSB1_HUMAN,C9J6I5_HUMAN,C9J6G8_HUMAN,C9J627_HUMAN,C9IZR2_HUMAN	.	UPI0000160F16	SNV	IFT80,3_prime_UTR_variant,,ENST00000483465,;IFT80,3_prime_UTR_variant,,ENST00000496589,;IFT80,3_prime_UTR_variant,,ENST00000326448,;IFT80,non_coding_transcript_exon_variant,,ENST00000463240,;RP11-432B6.3,3_prime_UTR_variant,,ENST00000483754,;IFT80,non_coding_transcript_exon_variant,,ENST00000487943,;IFT80,non_coding_transcript_exon_variant,,ENST00000478278,;	2790	49	36	SUCCESS
ZNF639	51193	.	GRCh37	3	179052271	179052271	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	15	15	41	0	ENST00000326361.3:c.*61A>T			ENST00000326361	NM_016331.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3227.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGAGATGATT	NONE	.	.	.	.	.	ENSP00000325634	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000326361	Transcript	.	.	ENSG00000121864	30950	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN639_HUMAN	ZNF639	HGNC	J3KR68_HUMAN,J3KR59_HUMAN,C9J3R1_HUMAN,C9IZP0_HUMAN	.	UPI000003EA4C	SNV	ZNF639,3_prime_UTR_variant,,ENST00000496856,;ZNF639,3_prime_UTR_variant,,ENST00000484866,;ZNF639,3_prime_UTR_variant,,ENST00000326361,;ZNF639,downstream_gene_variant,,ENST00000481587,;ZNF639,downstream_gene_variant,,ENST00000491818,;ZNF639,downstream_gene_variant,,ENST00000466264,;ZNF639,downstream_gene_variant,,ENST00000494234,;RP11-255C15.4,upstream_gene_variant,,ENST00000610130,;ZNF639,downstream_gene_variant,,ENST00000466663,;ZNF639,downstream_gene_variant,,ENST00000483460,;	1964	41	30	SUCCESS
HRASLS	0	.	GRCh37	3	192988624	192988624	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	8	0	ENST00000264735.2:c.*130T>C			ENST00000264735	NM_020386.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3303.2	.	MUTECT|MUSE	.	ATAAATTGCTT	NONE	.	.	.	.	.	ENSP00000264735	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000264735	Transcript	.	.	ENSG00000127252	14922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	HRASLS	HGNC	H7C3Y1_HUMAN	.	UPI0000E5AB93	SNV	HRASLS,3_prime_UTR_variant,,ENST00000264735,;HRASLS,3_prime_UTR_variant,,ENST00000602513,;ATP13A5,downstream_gene_variant,,ENST00000342358,;ATP13A5,downstream_gene_variant,,ENST00000495496,;HRASLS,intron_variant,,ENST00000416012,;	1046	8	11	SUCCESS
ZNF621	285268	.	GRCh37	3	40574632	40574632	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	37	28	85	0	ENST00000339296.5:c.*51A>G			ENST00000339296	NM_198484.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2693.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCTAATTTT	NONE	.	.	.	.	.	ENSP00000340841	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000339296	Transcript	.	.	ENSG00000172888	24787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN621_HUMAN	ZNF621	HGNC	C9JZC2_HUMAN,C9JM43_HUMAN	.	UPI00001C0DC3	SNV	ZNF621,3_prime_UTR_variant,,ENST00000339296,;ZNF621,3_prime_UTR_variant,,ENST00000403205,;ZNF621,3_prime_UTR_variant,,ENST00000431278,;ZNF621,intron_variant,,ENST00000310898,;ZNF621,downstream_gene_variant,,ENST00000453351,;ZNF621,intron_variant,,ENST00000490457,;ZNF621,downstream_gene_variant,,ENST00000462161,;ZNF621,downstream_gene_variant,,ENST00000492098,;	1823	85	66	SUCCESS
CCR5	1234	.	GRCh37	3	46415623	46415623	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	71	47	133	0	ENST00000292303.4:c.*171T>A			ENST00000292303	NM_001100168.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2739.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTAGATCTTTT	NONE	.	.	.	.	.	ENSP00000343985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000343801	Transcript	.	.	ENSG00000160791	1606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR5_HUMAN	CCR5	HGNC	Q9UBT9_HUMAN,Q9P1T4_HUMAN,Q5KSY4_HUMAN,Q5EKN0_HUMAN,Q38L21_HUMAN,J7HJP8_HUMAN,E7BJ57_HUMAN,B8LFP0_HUMAN,B8LFN8_HUMAN,A1A490_HUMAN	.	UPI000000D955	SNV	CCR5,3_prime_UTR_variant,,ENST00000292303,;CCR5,3_prime_UTR_variant,,ENST00000343801,;CCR5,downstream_gene_variant,,ENST00000445772,;RP11-24F11.2,intron_variant,,ENST00000451485,;	1587	133	119	SUCCESS
CPOX	1371	.	GRCh37	3	98299298	98299298	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	5	10	0	ENST00000264193.2:c.*229C>T			ENST00000264193	NM_000097.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2932.1	.	MUTECT|MUSE	.	AAAATGACACT	NONE	.	.	.	.	.	ENSP00000264193	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264193	Transcript	.	.	ENSG00000080819	2321	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	HEM6_HUMAN	CPOX	HGNC	.	.	UPI0000073C93	SNV	CPOX,3_prime_UTR_variant,,ENST00000264193,;CPOX,intron_variant,,ENST00000512905,;CPOX,downstream_gene_variant,,ENST00000510489,;	1813	10	9	SUCCESS
GAR1	54433	.	GRCh37	4	110745697	110745697	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	48	125	0	ENST00000226796.6:c.*110A>G			ENST00000226796	NM_018983.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34050.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGGTCATTTTA	NONE	.	.	.	.	.	ENSP00000226796	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000226796	Transcript	.	.	ENSG00000109534	14264	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAR1_HUMAN	GAR1	HGNC	.	.	UPI0000070C13	SNV	GAR1,3_prime_UTR_variant,,ENST00000226796,;GAR1,3_prime_UTR_variant,,ENST00000394631,;RRH,upstream_gene_variant,,ENST00000317735,;GAR1,downstream_gene_variant,,ENST00000506840,;GAR1,downstream_gene_variant,,ENST00000503671,;	1028	125	100	SUCCESS
RAB33B	83452	.	GRCh37	4	140394301	140394301	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs553701349	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	51	22	70	0	ENST00000305626.5:c.*21A>G			ENST00000305626	NM_031296.1			0	.	G:0	.	G:0.0014	.	G	.	protein_coding	YES	CCDS3747.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATATTATCTAA	NONE	by1000G	.	.	G:0	.	ENSP00000306496	G:0	2/2	.	.	.	.	.	.	.	.	rs553701349	2/2	PASS	ENST00000305626	Transcript	1	G:0.0002	ENSG00000172007	16075	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	RB33B_HUMAN	RAB33B	HGNC	.	.	UPI000000123D	SNV	RAB33B,3_prime_UTR_variant,,ENST00000305626,;	1100	70	74	SUCCESS
TLL1	7092	.	GRCh37	4	167022035	167022035	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	71	43	156	0	ENST00000061240.2:c.*7A>T			ENST00000061240	NM_012464.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3811.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACCAAAACCTC	NONE	.	.	.	.	.	ENSP00000061240	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000061240	Transcript	1	.	ENSG00000038295	11843	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TLL1_HUMAN	TLL1	HGNC	D6RCE0_HUMAN	.	UPI0000072EED	SNV	TLL1,3_prime_UTR_variant,,ENST00000061240,;TLL1,3_prime_UTR_variant,,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	3696	156	114	SUCCESS
CCDC149	91050	.	GRCh37	4	24809878	24809878	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	5	12	0	ENST00000504487.1:c.*133C>T			ENST00000504487	NM_001130726.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47036.1	.	RADIA|MUTECT|MUSE	.	AACAGGATCAG	NONE	.	.	.	.	.	ENSP00000425715	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000504487	Transcript	.	.	ENSG00000181982	25405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CC149_HUMAN	CCDC149	HGNC	.	.	UPI00005A7F29	SNV	CCDC149,3_prime_UTR_variant,,ENST00000502801,;CCDC149,3_prime_UTR_variant,,ENST00000389609,;CCDC149,3_prime_UTR_variant,,ENST00000504487,;CCDC149,3_prime_UTR_variant,,ENST00000428116,;CCDC149,downstream_gene_variant,,ENST00000507096,;	1730	12	11	SUCCESS
SEPSECS	51091	.	GRCh37	4	25125535	25125535	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	24	71	0	ENST00000382103.2:c.*18C>A			ENST00000382103	NM_016955.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3432.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCAAGAAGAA	NONE	.	.	.	.	.	ENSP00000371535	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000382103	Transcript	1	.	ENSG00000109618	30605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPCS_HUMAN	SEPSECS	HGNC	A1A4F3_HUMAN	.	UPI000020BDD0	SNV	SEPSECS,3_prime_UTR_variant,,ENST00000302922,;SEPSECS,3_prime_UTR_variant,,ENST00000382103,;SEPSECS,downstream_gene_variant,,ENST00000515272,;SEPSECS,3_prime_UTR_variant,,ENST00000358971,;SEPSECS,3_prime_UTR_variant,,ENST00000514585,;SEPSECS,downstream_gene_variant,,ENST00000503150,;SEPSECS,downstream_gene_variant,,ENST00000505513,;	1597	71	44	SUCCESS
ADRA2C	152	.	GRCh37	4	3769799	3769799	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	29	15	42	0	ENST00000330055.5:c.*77T>C			ENST00000330055	NM_000683.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS47004.1	.	SOMATICSNIPER|VARSCANS	.	AGCTTTCCCAG	NONE	.	.	.	.	.	ENSP00000386069	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330055	Transcript	.	.	ENSG00000184160	283	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ADA2C_HUMAN	ADRA2C	HGNC	Q4W594_HUMAN	.	UPI000012500C	SNV	ADRA2C,3_prime_UTR_variant,,ENST00000330055,;ADRA2C,intron_variant,,ENST00000509482,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	1675	42	44	SUCCESS
UCHL1	7345	.	GRCh37	4	41270126	41270126	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	21	37	0	ENST00000284440.4:c.*36T>C			ENST00000284440	NM_004181.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3462.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTTCCCTT	NONE	.	.	.	.	.	ENSP00000284440	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000284440	Transcript	1	.	ENSG00000154277	12513	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	UCHL1_HUMAN	UCHL1	HGNC	D6RF53_HUMAN,A6NLJ7_HUMAN	.	UPI00001379CA	SNV	UCHL1,3_prime_UTR_variant,,ENST00000512788,;UCHL1,3_prime_UTR_variant,,ENST00000508768,;UCHL1,3_prime_UTR_variant,,ENST00000503431,;UCHL1,3_prime_UTR_variant,,ENST00000284440,;UCHL1,3_prime_UTR_variant,,ENST00000512419,;UCHL1,non_coding_transcript_exon_variant,,ENST00000514764,;UCHL1,non_coding_transcript_exon_variant,,ENST00000381760,;UCHL1,non_coding_transcript_exon_variant,,ENST00000472501,;UCHL1,downstream_gene_variant,,ENST00000510566,;UCHL1,downstream_gene_variant,,ENST00000505232,;	852	37	42	SUCCESS
C5orf30	0	.	GRCh37	5	102612615	102612615	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	34	54	111	0	ENST00000319933.2:c.*374A>T			ENST00000319933	NM_033211.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCAGTACT	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000515669,;C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;	1303	111	88	SUCCESS
C5orf30	0	.	GRCh37	5	102613045	102613045	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	119	75	226	0	ENST00000319933.2:c.*804C>A			ENST00000319933	NM_033211.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4095.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTAACTTAAA	NONE	.	.	.	.	.	ENSP00000326110	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000319933	Transcript	.	.	ENSG00000181751	25052	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CE030_HUMAN	C5orf30	HGNC	.	.	UPI0000070E95	SNV	C5orf30,3_prime_UTR_variant,,ENST00000510890,;C5orf30,3_prime_UTR_variant,,ENST00000319933,;C5orf30,downstream_gene_variant,,ENST00000515669,;	1733	226	194	SUCCESS
TSSK1B	83942	.	GRCh37	5	112769360	112769360	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	10	29	0	ENST00000390666.3:c.*73G>A			ENST00000390666	NM_032028.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4112.1	.	MUTECT|MUSE	.	TCTGGCTCCAC	NONE	.	.	.	.	.	ENSP00000375081	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000390666	Transcript	.	.	ENSG00000212122	14968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TSSK1_HUMAN	TSSK1B	HGNC	A0ZT98_HUMAN	.	UPI000003C96E	SNV	TSSK1B,3_prime_UTR_variant,,ENST00000390666,;MCC,intron_variant,,ENST00000408903,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000383058,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	1369	29	18	SUCCESS
SRFBP1	153443	.	GRCh37	5	121362887	121362887	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	21	32	64	0	ENST00000339397.4:c.*66A>T			ENST00000339397	NM_152546.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43354.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTCATTCTG	NONE	.	.	.	.	.	ENSP00000341324	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000339397	Transcript	.	.	ENSG00000151304	26333	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SRFB1_HUMAN	SRFBP1	HGNC	.	.	UPI000006DEC3	SNV	SRFBP1,3_prime_UTR_variant,,ENST00000339397,;SRFBP1,intron_variant,,ENST00000504881,;	1428	64	54	SUCCESS
SPOCK1	6695	.	GRCh37	5	136314325	136314325	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	58	20	86	0	ENST00000394945.1:c.*18A>T			ENST00000394945	NM_004598.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4191.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGTGTCCTCT	NONE	.	.	.	.	.	ENSP00000378401	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000394945	Transcript	.	.	ENSG00000152377	11251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TICN1_HUMAN	SPOCK1	HGNC	D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN	.	UPI0000136F50	SNV	SPOCK1,3_prime_UTR_variant,,ENST00000394945,;SPOCK1,3_prime_UTR_variant,,ENST00000282223,;SPOCK1,downstream_gene_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000515091,;	1508	86	78	SUCCESS
MZB1	51237	.	GRCh37	5	138723388	138723388	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	18	35	0	ENST00000302125.8:c.*66A>T			ENST00000302125	NM_016459.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47273.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGCCTGCAGA	NONE	.	.	.	.	.	ENSP00000303920	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302125	Transcript	.	.	ENSG00000170476	30125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MZB1_HUMAN	MZB1	HGNC	B3KQ72_HUMAN	.	UPI0000035F67	SNV	MZB1,3_prime_UTR_variant,,ENST00000412103,;MZB1,3_prime_UTR_variant,,ENST00000302125,;SLC23A1,upstream_gene_variant,,ENST00000508270,;SLC23A1,upstream_gene_variant,,ENST00000348729,;SLC23A1,upstream_gene_variant,,ENST00000353963,;PROB1,downstream_gene_variant,,ENST00000434752,;MZB1,downstream_gene_variant,,ENST00000457570,;SLC23A1,upstream_gene_variant,,ENST00000503919,;MZB1,3_prime_UTR_variant,,ENST00000513389,;MZB1,3_prime_UTR_variant,,ENST00000417694,;MZB1,3_prime_UTR_variant,,ENST00000503481,;MZB1,non_coding_transcript_exon_variant,,ENST00000511979,;MZB1,non_coding_transcript_exon_variant,,ENST00000503120,;MZB1,downstream_gene_variant,,ENST00000509591,;MZB1,downstream_gene_variant,,ENST00000503351,;	694	35	30	SUCCESS
PCDHB8	56128	.	GRCh37	5	140564792	140564792	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	18	12	37	0				ENST00000239444	NM_019120.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4251.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTGCTCCA	NONE	.	.	.	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,3_prime_UTR_variant,,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	3813	37	31	SUCCESS
ARHGEF37	389337	.	GRCh37	5	149011823	149011823	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	18	7	36	0	ENST00000333677.6:c.*69A>T			ENST00000333677	NM_001001669.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43385.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGGAAAAGAAG	NONE	.	.	.	.	.	ENSP00000328083	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000333677	Transcript	.	.	ENSG00000183111	34430	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ARH37_HUMAN	ARHGEF37	HGNC	D6RJH4_HUMAN	.	UPI00001D7F04	SNV	ARHGEF37,3_prime_UTR_variant,,ENST00000333677,;ARHGEF37,downstream_gene_variant,,ENST00000509831,;	2260	36	26	SUCCESS
SLIT3	6586	.	GRCh37	5	168093426	168093426	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	31	0	ENST00000519560.1:c.*33T>A			ENST00000519560	NM_003062.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTGGAGTCCG	NONE	.	.	.	.	.	ENSP00000430333	.	36/36	.	.	.	.	.	.	.	.	.	36/36	PASS	ENST00000519560	Transcript	.	.	ENSG00000184347	11087	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SLIT3_HUMAN	SLIT3	HGNC	.	.	UPI00001B0229	SNV	SLIT3,3_prime_UTR_variant,,ENST00000332966,;SLIT3,3_prime_UTR_variant,,ENST00000519560,;SLIT3,downstream_gene_variant,,ENST00000404867,;CTC-558O2.2,non_coding_transcript_exon_variant,,ENST00000520041,;	5025	31	16	SUCCESS
LCP2	3937	.	GRCh37	5	169675517	169675517	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	7	22	0	ENST00000046794.5:c.*184T>A			ENST00000046794	NM_005565.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47339.1	.	RADIA|MUTECT|MUSE	.	GAATAAATAAA	NONE	.	.	.	.	.	ENSP00000046794	.	21/21	.	.	.	.	.	.	.	.	.	21/21	PASS	ENST00000046794	Transcript	.	.	ENSG00000043462	6529	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LCP2_HUMAN	LCP2	HGNC	.	.	UPI000012E2AE	SNV	LCP2,3_prime_UTR_variant,,ENST00000521416,;LCP2,3_prime_UTR_variant,,ENST00000046794,;C5orf58,downstream_gene_variant,,ENST00000521850,;C5orf58,downstream_gene_variant,,ENST00000593851,;C5orf58,intron_variant,,ENST00000517575,;C5orf58,downstream_gene_variant,,ENST00000518395,;LCP2,non_coding_transcript_exon_variant,,ENST00000520322,;C5orf58,intron_variant,,ENST00000524171,;C5orf58,downstream_gene_variant,,ENST00000421269,;	2402	22	11	SUCCESS
ZFP2	80108	.	GRCh37	5	178359761	178359761	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	11	80	0	ENST00000361362.2:c.*61T>C			ENST00000361362	NM_030613.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4440.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGACATACAAT	NONE	.	.	.	.	.	ENSP00000354453	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361362	Transcript	.	.	ENSG00000198939	26138	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP2_HUMAN	ZFP2	HGNC	E5RJD3_HUMAN	.	UPI000035E795	SNV	ZFP2,3_prime_UTR_variant,,ENST00000520301,;ZFP2,3_prime_UTR_variant,,ENST00000503510,;ZFP2,3_prime_UTR_variant,,ENST00000361362,;ZFP2,3_prime_UTR_variant,,ENST00000523286,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;	1977	80	49	SUCCESS
ADAMTS12	81792	.	GRCh37	5	33527288	33527288	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	19	89	0	ENST00000504830.1:c.*5A>T			ENST00000504830	NM_030955.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34140.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTTGGGCT	NONE	.	.	.	.	.	ENSP00000422554	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000504830	Transcript	.	.	ENSG00000151388	14605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATS12_HUMAN	ADAMTS12	HGNC	.	.	UPI000013DC51	SNV	ADAMTS12,3_prime_UTR_variant,,ENST00000504830,;ADAMTS12,3_prime_UTR_variant,,ENST00000352040,;CTD-2233C11.2,upstream_gene_variant,,ENST00000511579,;	5126	89	61	SUCCESS
PLK2	10769	.	GRCh37	5	57750329	57750329	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	10	31	0	ENST00000274289.3:c.*81A>T			ENST00000274289	NM_006622.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3974.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAACATACTCT	NONE	.	.	.	.	.	ENSP00000274289	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000274289	Transcript	.	.	ENSG00000145632	19699	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PLK2_HUMAN	PLK2	HGNC	.	.	UPI0000135B35	SNV	PLK2,3_prime_UTR_variant,,ENST00000274289,;PLK2,intron_variant,,ENST00000502671,;PLK2,downstream_gene_variant,,ENST00000509422,;PLK2,downstream_gene_variant,,ENST00000505244,;PLK2,downstream_gene_variant,,ENST00000514306,;PLK2,downstream_gene_variant,,ENST00000503115,;PLK2,downstream_gene_variant,,ENST00000515415,;PLK2,downstream_gene_variant,,ENST00000504196,;PLK2,downstream_gene_variant,,ENST00000509555,;PLK2,downstream_gene_variant,,ENST00000511326,;PLK2,downstream_gene_variant,,ENST00000503378,;PLK2,downstream_gene_variant,,ENST00000508300,;PLK2,downstream_gene_variant,,ENST00000510629,;PLK2,downstream_gene_variant,,ENST00000503713,;	2440	31	17	SUCCESS
FOXD1	2297	.	GRCh37	5	72742686	72742686	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	20	0	ENST00000499003.3:c.*122A>T			ENST00000499003	NM_004472.2			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	RADIA|VARSCANS	.	CGAGGTCGAGA	NONE	.	.	.	.	.	ENSP00000462795	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000499003	Transcript	.	.	ENSG00000251493	3802	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	FOXD1	HGNC	J3KT45_HUMAN	.	UPI000268B492	SNV	FOXD1,3_prime_UTR_variant,,ENST00000499003,;RP11-79P5.2,intron_variant,,ENST00000514661,;RP11-79P5.7,upstream_gene_variant,,ENST00000512310,;FOXD1,intron_variant,,ENST00000513595,;AC099522.1,non_coding_transcript_exon_variant,,ENST00000328926,;	1667	20	15	SUCCESS
HAPLN1	1404	.	GRCh37	5	82937305	82937305	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	69	50	158	0	ENST00000274341.4:c.*10T>G			ENST00000274341	NM_001884.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4061.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCTAAGGGC	NONE	.	.	.	.	.	ENSP00000274341	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000274341	Transcript	.	.	ENSG00000145681	2380	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HPLN1_HUMAN	HAPLN1	HGNC	D6RG04_HUMAN,D6RC59_HUMAN,D6RBX9_HUMAN,D6RBS1_HUMAN	.	UPI0000131BFF	SNV	HAPLN1,3_prime_UTR_variant,,ENST00000274341,;HAPLN1,downstream_gene_variant,,ENST00000510978,;HAPLN1,downstream_gene_variant,,ENST00000508307,;HAPLN1,downstream_gene_variant,,ENST00000503117,;HAPLN1,downstream_gene_variant,,ENST00000504713,;	1926	158	119	SUCCESS
GJA1	2697	.	GRCh37	6	121770871	121770871	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1582560017	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	99	0	ENST00000282561.3:c.*1729A>G			ENST00000282561	NM_000165.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5123.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAACATAGCT	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;RNU4-35P,downstream_gene_variant,,ENST00000362588,;	3035	99	64	SUCCESS
STX11	8676	.	GRCh37	6	144509159	144509159	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1192842940	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	58	39	124	0	ENST00000367568.4:c.*531A>G			ENST00000367568	NM_003764.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5205.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAATATAGAT	NONE	.	.	.	.	.	ENSP00000356540	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367568	Transcript	.	.	ENSG00000135604	11429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	STX11_HUMAN	STX11	HGNC	.	.	UPI0000001C25	SNV	STX11,3_prime_UTR_variant,,ENST00000367568,;	1578	124	98	SUCCESS
FNDC1	84624	.	GRCh37	6	159692645	159692645	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	11	18	0	ENST00000297267.9:c.*171C>G			ENST00000297267	NM_032532.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47512.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCCACTTCTT	NONE	.	.	.	.	.	ENSP00000297267	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000297267	Transcript	.	.	ENSG00000164694	21184	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FNDC1_HUMAN	FNDC1	HGNC	.	.	UPI0000579B80	SNV	FNDC1,3_prime_UTR_variant,,ENST00000340366,;FNDC1,3_prime_UTR_variant,,ENST00000297267,;FNDC1,3_prime_UTR_variant,,ENST00000329629,;	6056	18	23	SUCCESS
SOD2	6648	.	GRCh37	6	160103518	160103518	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	42	6	75	0	ENST00000538183.2:c.*7A>G			ENST00000538183	NM_000636.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5265.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AACGATCGTGG	NONE	.	.	.	.	.	ENSP00000446252	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538183	Transcript	.	.	ENSG00000112096	11180	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SODM_HUMAN	SOD2	HGNC	Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN	.	UPI000006D275	SNV	SOD2,3_prime_UTR_variant,,ENST00000367054,;SOD2,3_prime_UTR_variant,,ENST00000367055,;SOD2,3_prime_UTR_variant,,ENST00000444946,;SOD2,3_prime_UTR_variant,,ENST00000546087,;SOD2,3_prime_UTR_variant,,ENST00000538183,;SOD2,3_prime_UTR_variant,,ENST00000337404,;SOD2,downstream_gene_variant,,ENST00000545162,;SOD2,downstream_gene_variant,,ENST00000535561,;SOD2,downstream_gene_variant,,ENST00000537657,;SOD2,downstream_gene_variant,,ENST00000401980,;SOD2,non_coding_transcript_exon_variant,,ENST00000541573,;SOD2,downstream_gene_variant,,ENST00000540491,;SOD2,3_prime_UTR_variant,,ENST00000546260,;SOD2,non_coding_transcript_exon_variant,,ENST00000535459,;	837	75	49	SUCCESS
MRPL18	29074	.	GRCh37	6	160219194	160219194	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	40	0	ENST00000367034.4:c.*39C>G			ENST00000367034	NM_014161.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5270.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAATCTGTCA	NONE	.	.	.	.	.	ENSP00000356001	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000367034	Transcript	.	.	ENSG00000112110	14477	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RM18_HUMAN	MRPL18	HGNC	.	.	UPI0000037B54	SNV	MRPL18,3_prime_UTR_variant,,ENST00000367034,;PNLDC1,upstream_gene_variant,,ENST00000392167,;PNLDC1,upstream_gene_variant,,ENST00000610273,;MRPL18,non_coding_transcript_exon_variant,,ENST00000476826,;MRPL18,non_coding_transcript_exon_variant,,ENST00000480842,;PNLDC1,upstream_gene_variant,,ENST00000609334,;MRPL18,downstream_gene_variant,,ENST00000479638,;PNLDC1,upstream_gene_variant,,ENST00000610048,;PNLDC1,upstream_gene_variant,,ENST00000275275,;PNLDC1,upstream_gene_variant,,ENST00000610041,;	704	40	27	SUCCESS
MAP3K4	4216	.	GRCh37	6	161537962	161537962	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1313633093	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	19	39	0	ENST00000392142.4:c.*60A>G			ENST00000392142	NM_005922.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS34565.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTACATAAAG	NONE	.	.	.	.	.	ENSP00000375986	.	27/27	.	.	.	.	.	.	.	.	.	27/27	PASS	ENST00000392142	Transcript	.	.	ENSG00000085511	6856	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	M3K4_HUMAN	MAP3K4	HGNC	F5H534_HUMAN	.	UPI00004574E1	SNV	MAP3K4,3_prime_UTR_variant,,ENST00000366919,;MAP3K4,3_prime_UTR_variant,,ENST00000348824,;MAP3K4,3_prime_UTR_variant,,ENST00000366920,;MAP3K4,3_prime_UTR_variant,,ENST00000392142,;MAP3K4,3_prime_UTR_variant,,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000536852,;	5035	39	32	SUCCESS
HMGN4	10473	.	GRCh37	6	26546008	26546008	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1182968527	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	43	44	102	0	ENST00000377575.2:c.*301G>A			ENST00000377575	NM_006353.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4615.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGCACGGAAGC	NONE	.	.	.	.	.	ENSP00000366798	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000377575	Transcript	.	.	ENSG00000182952	4989	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HMGN4_HUMAN	HMGN4	HGNC	.	.	UPI000013E3BB	SNV	HMGN4,3_prime_UTR_variant,,ENST00000377575,;	751	102	87	SUCCESS
HIST1H2AI	0	.	GRCh37	6	27777844	27777844	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs569053667	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	53	26	79	0				ENST00000358739	NM_003509.2			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS4627.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCTCTGAAG	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000358160	T:0	1/1	.	.	.	.	.	.	.	.	rs569053667	1/1	PASS	ENST00000369163	Transcript	.	T:0.0004	ENSG00000203813	4775	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0.002	.	.	H31_HUMAN	HIST1H3H	HGNC	.	.	UPI00000003C7	SNV	HIST1H3H,5_prime_UTR_variant,,ENST00000369163,;HIST1H2BL,upstream_gene_variant,,ENST00000377401,;HIST1H2AJ,downstream_gene_variant,,ENST00000333151,;HIST1H2AI,downstream_gene_variant,,ENST00000358739,;HIST1H2BM,upstream_gene_variant,,ENST00000359465,;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	3	79	79	SUCCESS
MOG	4340	.	GRCh37	6	29639245	29639245	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	44	0	ENST00000376917.3:c.*283T>G			ENST00000376917	NM_002433.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4667.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCCCCTCTCTC	NONE	.	.	.	.	.	ENSP00000366095	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000376898	Transcript	.	.	ENSG00000204655	7197	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MOG_HUMAN	MOG	HGNC	.	.	UPI00004573E8	SNV	MOG,3_prime_UTR_variant,,ENST00000533330,;MOG,3_prime_UTR_variant,,ENST00000376891,;MOG,3_prime_UTR_variant,,ENST00000376898,;MOG,3_prime_UTR_variant,,ENST00000494692,;MOG,3_prime_UTR_variant,,ENST00000376917,;MOG,3_prime_UTR_variant,,ENST00000376888,;MOG,3_prime_UTR_variant,,ENST00000376902,;MOG,3_prime_UTR_variant,,ENST00000431798,;MOG,3_prime_UTR_variant,,ENST00000376894,;MOG,3_prime_UTR_variant,,ENST00000396701,;ZFP57,downstream_gene_variant,,ENST00000376883,;MOG,downstream_gene_variant,,ENST00000490427,;MOG,downstream_gene_variant,,ENST00000396704,;ZFP57,downstream_gene_variant,,ENST00000488757,;MOG,downstream_gene_variant,,ENST00000483013,;ZFP57,downstream_gene_variant,,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,3_prime_UTR_variant,,ENST00000376889,;MOG,3_prime_UTR_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	777	44	31	SUCCESS
C4B-AS1	106480730	.	GRCh37	6	32007351	32007351	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	383	138	490	0				ENST00000415626		193		0	.	.	.	.	.	G	K/R	protein_coding	YES	CCDS4735.1	578	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTACAAATGTA	NONE	.	.	hmmpanther:PTHR24281:SF2,hmmpanther:PTHR24281,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	.	.	ENSP00000408860	.	5/10	.	.	.	.	.	.	.	.	.	5/10	PASS	ENST00000418967	Transcript	.	.	ENSG00000231852	2600	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.007)	.	tolerated(0.38)	.	.	CYP21A2	HGNC	Q9UP07_HUMAN,Q7KYP0_HUMAN,Q16874_HUMAN,C6K7H0_HUMAN,B6VE01_HUMAN	.	UPI0000073F52	SNV	CYP21A2,missense_variant,p.Lys193Arg,ENST00000418967,;CYP21A2,missense_variant,p.Lys163Arg,ENST00000435122,;CYP21A2,intron_variant,,ENST00000471671,;C4B,downstream_gene_variant,,ENST00000435363,;CYP21A2,downstream_gene_variant,,ENST00000478281,;TNXB,downstream_gene_variant,,ENST00000375247,;TNXB,downstream_gene_variant,,ENST00000451343,;C4B,downstream_gene_variant,,ENST00000425700,;TNXB,downstream_gene_variant,,ENST00000375244,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,3_prime_UTR_variant,,ENST00000466779,;CYP21A2,3_prime_UTR_variant,,ENST00000469053,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000462278,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000466879,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000464325,;CYP21A2,intron_variant,,ENST00000479730,;C4B,downstream_gene_variant,,ENST00000468936,;TNXB,downstream_gene_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000488465,;TNXB,downstream_gene_variant,,ENST00000490077,;C4B,downstream_gene_variant,,ENST00000496065,;C4B,downstream_gene_variant,,ENST00000468237,;C4B,downstream_gene_variant,,ENST00000463249,;C4B,downstream_gene_variant,,ENST00000496560,;CYP21A2,downstream_gene_variant,,ENST00000480027,;	736	490	521	SUCCESS
HLA-DOB	3112	.	GRCh37	6	32780878	32780878	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	16	23	0	ENST00000438763.2:c.*115G>A			ENST00000438763	NM_002120.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4754.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	AGGATCAGGGA	NONE	.	.	.	.	.	ENSP00000390020	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000438763	Transcript	.	.	ENSG00000241106	4937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DOB_HUMAN	HLA-DOB	HGNC	Q5QNS2_HUMAN	.	UPI0000000C73	SNV	HLA-DOB,3_prime_UTR_variant,,ENST00000438763,;HLA-DOB,downstream_gene_variant,,ENST00000447394,;TAP2,downstream_gene_variant,,ENST00000452392,;HLA-DOB,3_prime_UTR_variant,,ENST00000488325,;HLA-DOB,non_coding_transcript_exon_variant,,ENST00000475235,;	1034	23	28	SUCCESS
HLA-DOA	3111	.	GRCh37	6	32974484	32974484	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	28	0	ENST00000229829.5:c.*131C>T			ENST00000229829	NM_002119.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4763.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CGTAGGACAGA	NONE	.	.	.	.	.	ENSP00000229829	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000229829	Transcript	.	.	ENSG00000204252	4936	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DOA_HUMAN	HLA-DOA	HGNC	.	.	UPI0000000CD0	SNV	HLA-DOA,3_prime_UTR_variant,,ENST00000450833,;HLA-DOA,3_prime_UTR_variant,,ENST00000229829,;HLA-DOA,downstream_gene_variant,,ENST00000374813,;HLA-DOA,non_coding_transcript_exon_variant,,ENST00000490305,;HLA-DOA,downstream_gene_variant,,ENST00000467465,;HLA-DOA,downstream_gene_variant,,ENST00000495532,;HLA-DOA,downstream_gene_variant,,ENST00000485901,;	960	28	31	SUCCESS
DAXX	1616	.	GRCh37	6	33282782	33282782	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	118	102	245	0				ENST00000374542	NM_001141970.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4775.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAGCCTGCCCC	NONE	.	.	.	.	.	ENSP00000407545	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431845	Transcript	.	.	ENSG00000236104	13085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT22_HUMAN	ZBTB22	HGNC	A2AB93_HUMAN	.	UPI000013C34E	SNV	ZBTB22,3_prime_UTR_variant,,ENST00000431845,;ZBTB22,3_prime_UTR_variant,,ENST00000418724,;TAPBP,upstream_gene_variant,,ENST00000489157,;DAXX,downstream_gene_variant,,ENST00000374542,;TAPBP,upstream_gene_variant,,ENST00000456592,;DAXX,downstream_gene_variant,,ENST00000414083,;ZBTB22,downstream_gene_variant,,ENST00000441117,;TAPBP,upstream_gene_variant,,ENST00000467025,;TAPBP,upstream_gene_variant,,ENST00000426633,;TAPBP,upstream_gene_variant,,ENST00000434618,;TAPBP,upstream_gene_variant,,ENST00000475304,;DAXX,downstream_gene_variant,,ENST00000266000,;DAXX,downstream_gene_variant,,ENST00000468536,;DAXX,downstream_gene_variant,,ENST00000477162,;TAPBP,upstream_gene_variant,,ENST00000476333,;TAPBP,upstream_gene_variant,,ENST00000437116,;TAPBP,upstream_gene_variant,,ENST00000480730,;DAXX,downstream_gene_variant,,ENST00000490173,;	2064	245	221	SUCCESS
LRRC1	55227	.	GRCh37	6	53787665	53787665	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	18	0	ENST00000370888.1:c.*74T>A			ENST00000370888	NM_018214.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4953.2	.	MUTECT|MUSE	.	GAGCCTCACGT	NONE	.	.	.	.	.	ENSP00000359925	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000370888	Transcript	.	.	ENSG00000137269	14307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRRC1_HUMAN	LRRC1	HGNC	.	.	UPI0000072801	SNV	LRRC1,3_prime_UTR_variant,,ENST00000370888,;RP3-523E19.2,upstream_gene_variant,,ENST00000474641,;LRRC1,downstream_gene_variant,,ENST00000490222,;	1926	18	16	SUCCESS
COL12A1	1303	.	GRCh37	6	75794941	75794941	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	13	20	44	0	ENST00000322507.8:c.*1322T>A			ENST00000322507	NM_004370.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43482.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCCAGCGCC	NONE	.	.	.	.	.	ENSP00000325146	.	66/66	.	.	.	.	.	.	.	.	.	66/66	PASS	ENST00000322507	Transcript	.	.	ENSG00000111799	2188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	COCA1_HUMAN	COL12A1	HGNC	.	.	UPI000045890B	SNV	COL12A1,missense_variant,p.Trp746Arg,ENST00000425443,;COL12A1,3_prime_UTR_variant,,ENST00000322507,;COL12A1,downstream_gene_variant,,ENST00000416123,;COL12A1,downstream_gene_variant,,ENST00000483888,;COL12A1,downstream_gene_variant,,ENST00000345356,;COL12A1,downstream_gene_variant,,ENST00000511023,;	10824	44	33	SUCCESS
FUT9	10690	.	GRCh37	6	96659645	96659645	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	29	93	0	ENST00000302103.5:c.*7534A>G			ENST00000302103	NM_006581.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGAGAATG	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	8940	93	89	SUCCESS
FUT9	10690	.	GRCh37	6	96659666	96659666	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	73	48	79	0	ENST00000302103.5:c.*7559del			ENST00000302103	NM_006581.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS5033.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATAGTATTTTTA	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	4	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	deletion	FUT9,3_prime_UTR_variant,,ENST00000302103,;	8961	79	121	SUCCESS
C7orf61	402573	.	GRCh37	7	100054269	100054269	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	24	0	ENST00000332375.3:c.*106T>A			ENST00000332375	NM_001004323.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47661.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCCCAATATT	NONE	.	.	.	.	.	ENSP00000327732	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000332375	Transcript	.	.	ENSG00000185955	22135	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CG061_HUMAN	C7orf61	HGNC	.	.	UPI00000741A1	SNV	C7orf61,3_prime_UTR_variant,,ENST00000332375,;C7orf61,downstream_gene_variant,,ENST00000418952,;	973	24	16	SUCCESS
PMPCB	9512	.	GRCh37	7	102953363	102953363	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	45	78	0	ENST00000249269.4:c.*645A>T			ENST00000249269	NM_004279.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5730.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAATACAACA	NONE	.	.	.	.	.	ENSP00000249269	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000249269	Transcript	.	.	ENSG00000105819	9119	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPPB_HUMAN	PMPCB	HGNC	.	.	UPI00000712F7	SNV	PMPCB,3_prime_UTR_variant,,ENST00000249269,;DNAJC2,intron_variant,,ENST00000249270,;DNAJC2,intron_variant,,ENST00000379263,;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,intron_variant,,ENST00000464253,;DNAJC2,intron_variant,,ENST00000475065,;DNAJC2,downstream_gene_variant,,ENST00000475090,;PMPCB,downstream_gene_variant,,ENST00000456433,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;	2153	78	101	SUCCESS
SSMEM1	136263	.	GRCh37	7	129856384	129856384	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	15	50	0	ENST00000297819.3:c.*74T>A			ENST00000297819	NM_145268.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5816.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTATAGGTG	NONE	.	.	.	.	.	ENSP00000297819	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000297819	Transcript	.	.	ENSG00000165120	29580	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SSMM1_HUMAN	SSMEM1	HGNC	A4D1L0_HUMAN	.	UPI00000706B0	SNV	SSMEM1,3_prime_UTR_variant,,ENST00000297819,;	860	50	39	SUCCESS
TTC26	79989	.	GRCh37	7	138874216	138874216	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	121	112	290	1	ENST00000464848.1:c.*38A>T			ENST00000464848	NM_001287513.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5852.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTTGACATAA	NONE	.	.	.	.	.	ENSP00000419279	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000464848	Transcript	.	.	ENSG00000105948	21882	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TTC26_HUMAN	TTC26	HGNC	B7Z1H0_HUMAN	.	UPI000020FBAD	SNV	TTC26,3_prime_UTR_variant,,ENST00000478836,;TTC26,3_prime_UTR_variant,,ENST00000343187,;TTC26,3_prime_UTR_variant,,ENST00000430935,;TTC26,3_prime_UTR_variant,,ENST00000495038,;TTC26,3_prime_UTR_variant,,ENST00000464848,;TTC26,3_prime_UTR_variant,,ENST00000476296,;	1783	291	234	SUCCESS
AMPH	273	.	GRCh37	7	38424372	38424372	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs781534379	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	41	70	0	ENST00000356264.2:c.*47C>A			ENST00000356264	NM_001635.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5456.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATGAAGGTTTA	NONE	.	.	.	.	.	ENSP00000348602	.	21/21	.	.	.	.	.	.	.	.	rs781534379	21/21	PASS	ENST00000356264	Transcript	.	.	ENSG00000078053	471	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AMPH_HUMAN	AMPH	HGNC	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN	.	UPI00001259EA	SNV	AMPH,3_prime_UTR_variant,,ENST00000356264,;AMPH,3_prime_UTR_variant,,ENST00000428293,;AMPH,3_prime_UTR_variant,,ENST00000325590,;AMPH,downstream_gene_variant,,ENST00000441628,;	2351	70	84	SUCCESS
GBAS	0	.	GRCh37	7	56066836	56066836	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs146309360	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	44	82	1	ENST00000322090.3:c.*71G>T			ENST00000322090	NM_001483.2			0	.	T:0.0038	.	T:0	.	T	.	protein_coding	YES	CCDS5521.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATTGTGTATCA	NONE	byFrequency|by1000G	.	.	T:0	.	ENSP00000313050	T:0	10/10	.	.	.	.	.	.	.	.	rs146309360	10/10	PASS	ENST00000322090	Transcript	.	T:0.0010	ENSG00000146729	4179	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	T:0	.	.	NIPS2_HUMAN	GBAS	HGNC	C9K068_HUMAN,C9J7B1_HUMAN	.	UPI00000015EB	SNV	GBAS,3_prime_UTR_variant,,ENST00000322090,;GBAS,3_prime_UTR_variant,,ENST00000446778,;GBAS,downstream_gene_variant,,ENST00000437587,;GBAS,3_prime_UTR_variant,,ENST00000415967,;GBAS,non_coding_transcript_exon_variant,,ENST00000497279,;	961	83	82	SUCCESS
RP11-3N2.13	0	.	GRCh37	7	63529267	63529267	+	upstream_gene_variant	5'Flank	SNP	A	A	T	rs777652940	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	22	57	0				ENST00000456806				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55113.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAGCGAG	NONE	byFrequency	.	.	.	.	ENSP00000447987	.	.	.	.	.	.	.	.	.	.	rs777652940	.	PASS	ENST00000550760	Transcript	.	.	ENSG00000257482	22785	.	.	HIGH	1/3	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN727_HUMAN	ZNF727	HGNC	.	.	UPI0001A23134	SNV	ZNF727,splice_acceptor_variant,,ENST00000550760,;RP11-3N2.13,splice_acceptor_variant,,ENST00000445978,;RP11-3N2.13,upstream_gene_variant,,ENST00000456806,;	.	57	47	SUCCESS
CLDN12	9069	.	GRCh37	7	90043085	90043085	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1035697540	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	33	34	82	0	ENST00000287916.4:c.*360A>G			ENST00000287916	NM_001185073.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5618.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGTGTATTTTT	NONE	.	.	.	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	SNV	CLDN12,3_prime_UTR_variant,,ENST00000287916,;CLDN12,3_prime_UTR_variant,,ENST00000535571,;CLDN12,3_prime_UTR_variant,,ENST00000394605,;CLDN12,downstream_gene_variant,,ENST00000427904,;CLDN12,downstream_gene_variant,,ENST00000496677,;CLDN12,downstream_gene_variant,,ENST00000394604,;CLDN12,downstream_gene_variant,,ENST00000416322,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000498326,;CLDN12,downstream_gene_variant,,ENST00000462636,;	1404	82	67	SUCCESS
CTHRC1	115908	.	GRCh37	8	104394919	104394919	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	14	33	0	ENST00000330295.5:c.*91T>C			ENST00000330295	NM_138455.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6299.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACATCTGAATG	NONE	.	.	.	.	.	ENSP00000330523	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000330295	Transcript	1	.	ENSG00000164932	18831	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CTHR1_HUMAN	CTHRC1	HGNC	E5RK99_HUMAN	.	UPI0000073CB3	SNV	CTHRC1,3_prime_UTR_variant,,ENST00000330295,;CTHRC1,3_prime_UTR_variant,,ENST00000520337,;CTHRC1,downstream_gene_variant,,ENST00000520880,;RP11-1C8.6,downstream_gene_variant,,ENST00000577199,;RNU6-1011P,upstream_gene_variant,,ENST00000384668,;	965	33	25	SUCCESS
NOV	0	.	GRCh37	8	120435449	120435449	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	28	18	41	0	ENST00000259526.3:c.*77T>A			ENST00000259526	NM_002514.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6328.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAAAGTAATGA	NONE	.	.	.	.	.	ENSP00000259526	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000259526	Transcript	.	.	ENSG00000136999	7885	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOV_HUMAN	NOV	HGNC	B3FHX2_HUMAN	.	UPI00001303BE	SNV	NOV,3_prime_UTR_variant,,ENST00000259526,;RP11-775B15.2,intron_variant,,ENST00000519786,;	1378	41	47	SUCCESS
PTP4A3	11156	.	GRCh37	8	142441279	142441279	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs954618502	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	18	0	ENST00000329397.1:c.*135C>A			ENST00000329397				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6383.1	.	MUTECT|MUSE	.	CCTCCCCGACA	NONE	.	.	.	.	.	ENSP00000428976	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000521578	Transcript	.	.	ENSG00000184489	9636	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TP4A3_HUMAN	PTP4A3	HGNC	E5RGR3_HUMAN	.	UPI000004981B	SNV	PTP4A3,3_prime_UTR_variant,,ENST00000521578,;PTP4A3,3_prime_UTR_variant,,ENST00000329397,;PTP4A3,3_prime_UTR_variant,,ENST00000520105,;PTP4A3,3_prime_UTR_variant,,ENST00000349124,;PTP4A3,3_prime_UTR_variant,,ENST00000524028,;PTP4A3,downstream_gene_variant,,ENST00000523147,;CTD-3064M3.7,upstream_gene_variant,,ENST00000606664,;MROH5,downstream_gene_variant,,ENST00000521053,;MROH5,downstream_gene_variant,,ENST00000523857,;MROH5,downstream_gene_variant,,ENST00000430863,;	1602	18	8	SUCCESS
FBXL6	26233	.	GRCh37	8	145579136	145579136	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	25	15	66	0	ENST00000331890.5:c.*55A>T			ENST00000331890	NM_012162.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6422.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAATTGGGCA	NONE	.	.	.	.	.	ENSP00000330098	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000331890	Transcript	.	.	ENSG00000182325	13603	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXL6_HUMAN	FBXL6	HGNC	Q71RB6_HUMAN	.	UPI000006E3A5	SNV	FBXL6,3_prime_UTR_variant,,ENST00000331890,;FBXL6,3_prime_UTR_variant,,ENST00000455319,;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;TMEM249,upstream_gene_variant,,ENST00000398633,;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000530047,;SLC52A2,upstream_gene_variant,,ENST00000540505,;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000402965,;TMEM249,upstream_gene_variant,,ENST00000526263,;SLC52A2,upstream_gene_variant,,ENST00000534725,;SLC52A2,upstream_gene_variant,,ENST00000329994,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,downstream_gene_variant,,ENST00000530687,;FBXL6,downstream_gene_variant,,ENST00000524909,;FBXL6,downstream_gene_variant,,ENST00000526524,;FBXL6,downstream_gene_variant,,ENST00000527000,;SLC52A2,upstream_gene_variant,,ENST00000526891,;GS1-393G12.13,3_prime_UTR_variant,,ENST00000531225,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524492,;SLC52A2,upstream_gene_variant,,ENST00000526779,;SLC52A2,upstream_gene_variant,,ENST00000533662,;FBXL6,downstream_gene_variant,,ENST00000529279,;TMEM249,upstream_gene_variant,,ENST00000526503,;	1740	66	40	SUCCESS
KBTBD11	9920	.	GRCh37	8	1953297	1953297	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	39	123	0	ENST00000320248.3:c.*2067T>A			ENST00000320248	NM_014867.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34795.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTCCTGTGCG	NONE	.	.	.	.	.	ENSP00000321544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320248	Transcript	.	.	ENSG00000176595	29104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTBB_HUMAN	KBTBD11	HGNC	.	.	UPI0000139C1D	SNV	KBTBD11,3_prime_UTR_variant,,ENST00000320248,;	4905	123	54	SUCCESS
LCN8	138307	.	GRCh37	9	139648876	139648876	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	9	15	0	ENST00000371688.3:c.*74A>C			ENST00000371688	NM_178469.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35183.1	.	RADIA|MUTECT|MUSE	.	TGACCTGGTGG	NONE	.	.	.	.	.	ENSP00000360753	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000371688	Transcript	.	.	ENSG00000204001	27038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LCN8_HUMAN	LCN8	HGNC	.	.	UPI00000498C5	SNV	LCN8,3_prime_UTR_variant,,ENST00000371688,;LCN8,non_coding_transcript_exon_variant,,ENST00000479767,;LCN8,non_coding_transcript_exon_variant,,ENST00000482893,;LCN8,non_coding_transcript_exon_variant,,ENST00000480597,;	829	15	11	SUCCESS
FAM122A	0	.	GRCh37	9	71397857	71397857	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	107	47	113	0	ENST00000394264.3:c.*1913A>T			ENST00000394264	NM_138333.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6623.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGATTAGCTTA	NONE	.	.	.	.	.	ENSP00000377807	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000394264	Transcript	.	.	ENSG00000187866	23490	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F122A_HUMAN	FAM122A	HGNC	B4E242_HUMAN	.	UPI0000071E32	SNV	FAM122A,3_prime_UTR_variant,,ENST00000394264,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000541509,;PIP5K1B,intron_variant,,ENST00000265382,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	2894	113	155	SUCCESS
RMI1	80010	.	GRCh37	9	86618617	86618617	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	19	56	0	ENST00000325875.3:c.*838A>T			ENST00000325875	NM_024945.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6669.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGTTAACTAGA	NONE	.	.	.	.	.	ENSP00000317039	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000325875	Transcript	.	.	ENSG00000178966	25764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RMI1_HUMAN	RMI1	HGNC	.	.	UPI000014178F	SNV	RMI1,3_prime_UTR_variant,,ENST00000325875,;RMI1,downstream_gene_variant,,ENST00000445877,;	3048	56	75	SUCCESS
S1PR3	1903	.	GRCh37	9	91617673	91617673	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	46	114	0	ENST00000358157.2:c.*421A>T			ENST00000358157	NM_005226.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6680.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACAGAATT	NONE	.	.	.	.	.	ENSP00000365006	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000375846	Transcript	.	.	ENSG00000213694	3167	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S1PR3_HUMAN	S1PR3	HGNC	.	.	UPI0000140B93	SNV	S1PR3,3_prime_UTR_variant,,ENST00000358157,;S1PR3,3_prime_UTR_variant,,ENST00000375846,;	6253	114	111	SUCCESS
TCEAL7	56849	.	GRCh37	X	102587014	102587014	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	143	185	0	ENST00000332431.4:c.*380T>C			ENST00000332431	NM_152278.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14506.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTTTTTTCT	NONE	.	.	.	.	.	ENSP00000329794	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000332431	Transcript	.	.	ENSG00000182916	28336	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCAL7_HUMAN	TCEAL7	HGNC	.	.	UPI000006FEA2	SNV	TCEAL7,3_prime_UTR_variant,,ENST00000332431,;TCEAL7,3_prime_UTR_variant,,ENST00000372666,;	937	185	159	SUCCESS
ATG4A	115201	.	GRCh37	X	107396964	107396964	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	49	53	0	ENST00000372232.3:c.*22A>T			ENST00000372232	NM_052936.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14538.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTTGAAGGTCT	NONE	.	.	.	.	.	ENSP00000361306	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000372232	Transcript	.	.	ENSG00000101844	16489	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATG4A_HUMAN	ATG4A	HGNC	.	.	UPI000000DCAF	SNV	ATG4A,3_prime_UTR_variant,,ENST00000372254,;ATG4A,3_prime_UTR_variant,,ENST00000372232,;ATG4A,3_prime_UTR_variant,,ENST00000345734,;ATG4A,3_prime_UTR_variant,,ENST00000545696,;COL4A6,intron_variant,,ENST00000418180,;COL4A6,downstream_gene_variant,,ENST00000372216,;COL4A6,downstream_gene_variant,,ENST00000538570,;COL4A6,downstream_gene_variant,,ENST00000394872,;COL4A6,downstream_gene_variant,,ENST00000334504,;COL4A6,downstream_gene_variant,,ENST00000545689,;ATG4A,downstream_gene_variant,,ENST00000457035,;ATG4A,downstream_gene_variant,,ENST00000394892,;ATG4A,non_coding_transcript_exon_variant,,ENST00000489247,;ATG4A,downstream_gene_variant,,ENST00000474825,;ATG4A,3_prime_UTR_variant,,ENST00000372246,;ATG4A,3_prime_UTR_variant,,ENST00000343524,;	1378	53	54	SUCCESS
GABRE	2564	.	GRCh37	X	151123163	151123163	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1413595557	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	58	136	0	ENST00000370328.3:c.*10G>T			ENST00000370328	NM_004961.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14703.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGTACCAGCTG	NONE	.	.	.	.	.	ENSP00000359353	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000370328	Transcript	.	.	ENSG00000102287	4085	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GBRE_HUMAN	GABRE	HGNC	.	.	UPI00000307E6	SNV	GABRE,3_prime_UTR_variant,,ENST00000370328,;GABRE,3_prime_UTR_variant,,ENST00000370325,;GABRE,downstream_gene_variant,,ENST00000393914,;AF274855.1,downstream_gene_variant,,ENST00000582865,;MIR452,downstream_gene_variant,,ENST00000385020,;MIR224,downstream_gene_variant,,ENST00000384889,;GABRE,non_coding_transcript_exon_variant,,ENST00000483564,;GABRE,downstream_gene_variant,,ENST00000462018,;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,;GABRE,downstream_gene_variant,,ENST00000495862,;GABRE,downstream_gene_variant,,ENST00000441219,;GABRE,downstream_gene_variant,,ENST00000476016,;GABRE,downstream_gene_variant,,ENST00000489333,;	1585	136	69	SUCCESS
PDHA1	5160	.	GRCh37	X	19379014	19379014	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	1	11	16	0	ENST00000422285.2:c.*1243A>T			ENST00000422285				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55380.1	.	RADIA|MUTECT|MUSE	.	ACTGCAGTCCC	NONE	.	.	.	.	.	ENSP00000369134	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000379806	Transcript	.	.	ENSG00000131828	8806	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ODPA_HUMAN	PDHA1	HGNC	Q9UNV7_HUMAN,Q6LCA3_HUMAN,Q5JPU3_HUMAN,Q5JPU1_HUMAN,A5YPB6_HUMAN	.	UPI0000D4E0D1	SNV	PDHA1,3_prime_UTR_variant,,ENST00000422285,;PDHA1,3_prime_UTR_variant,,ENST00000540249,;PDHA1,3_prime_UTR_variant,,ENST00000379806,;PDHA1,3_prime_UTR_variant,,ENST00000545074,;MAP3K15,intron_variant,,ENST00000469203,;MAP3K15,intron_variant,,ENST00000359173,;MAP3K15,intron_variant,,ENST00000338883,;PDHA1,downstream_gene_variant,,ENST00000379804,;MAP3K15,intron_variant,,ENST00000518578,;PDHA1,downstream_gene_variant,,ENST00000481733,;PDHA1,downstream_gene_variant,,ENST00000478795,;MAP3K15,intron_variant,,ENST00000470101,;	2675	16	12	SUCCESS
FAM46D	0	.	GRCh37	X	79700385	79700385	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MB-01	TCGA-UB-A7MB-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	139	152	1	ENST00000538312.1:c.*1177A>T			ENST00000538312	NM_001170574.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14446.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAATGAAAATA	NONE	.	.	.	.	.	ENSP00000443410	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000538312	Transcript	.	.	ENSG00000174016	28399	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46D_HUMAN	FAM46D	HGNC	.	.	UPI0000073CF3	SNV	FAM46D,3_prime_UTR_variant,,ENST00000308293,;FAM46D,3_prime_UTR_variant,,ENST00000538312,;	2681	153	154	SUCCESS
ANKRD2	26287	.	GRCh37	10	99343487	99343487	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs367622586	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	96	39	139	0	ENST00000307518.5:c.*5G>A			ENST00000307518				0	A:0.0002	.	.	.	.	A	.	protein_coding	YES	CCDS7466.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATGCGTGCCC	NONE	byFrequency|byCluster	.	.	.	A:0	ENSP00000306163	.	9/9	.	.	.	.	.	.	.	.	rs367622586	9/9	PASS	ENST00000307518	Transcript	.	.	ENSG00000165887	495	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANKR2_HUMAN	ANKRD2	HGNC	.	.	UPI0000231C90	SNV	ANKRD2,3_prime_UTR_variant,,ENST00000307518,;ANKRD2,3_prime_UTR_variant,,ENST00000370655,;ANKRD2,3_prime_UTR_variant,,ENST00000298808,;ANKRD2,3_prime_UTR_variant,,ENST00000455090,;PI4K2A,upstream_gene_variant,,ENST00000370649,;PI4K2A,upstream_gene_variant,,ENST00000555577,;HOGA1,upstream_gene_variant,,ENST00000370647,;HOGA1,upstream_gene_variant,,ENST00000370646,;HOGA1,upstream_gene_variant,,ENST00000465608,;	1355	139	136	SUCCESS
ANAPC15	25906	.	GRCh37	11	71820004	71820004	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	6	25	0				ENST00000227618	NM_001278485.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44668.1	.	RADIA|MUTECT|MUSE	.	GCCCACCCCCA	NONE	.	.	.	.	.	ENSP00000409789	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000435085	Transcript	.	.	ENSG00000184154	25033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TOMT_HUMAN	LRTOMT	HGNC	.	.	UPI00019150CB	SNV	LRTOMT,3_prime_UTR_variant,,ENST00000435085,;LRTOMT,3_prime_UTR_variant,,ENST00000307198,;LRTOMT,3_prime_UTR_variant,,ENST00000419228,;ANAPC15,intron_variant,,ENST00000502597,;ANAPC15,intron_variant,,ENST00000543050,;ANAPC15,downstream_gene_variant,,ENST00000537644,;ANAPC15,downstream_gene_variant,,ENST00000227618,;ANAPC15,downstream_gene_variant,,ENST00000545944,;ANAPC15,downstream_gene_variant,,ENST00000543587,;ANAPC15,downstream_gene_variant,,ENST00000545680,;ANAPC15,downstream_gene_variant,,ENST00000438939,;ANAPC15,downstream_gene_variant,,ENST00000535503,;ANAPC15,downstream_gene_variant,,ENST00000542531,;LRTOMT,downstream_gene_variant,,ENST00000439209,;ANAPC15,downstream_gene_variant,,ENST00000538393,;ANAPC15,downstream_gene_variant,,ENST00000535234,;ANAPC15,downstream_gene_variant,,ENST00000545333,;ANAPC15,downstream_gene_variant,,ENST00000539395,;ANAPC15,downstream_gene_variant,,ENST00000538919,;snoU13,downstream_gene_variant,,ENST00000459046,;ANAPC15,downstream_gene_variant,,ENST00000543015,;LRTOMT,3_prime_UTR_variant,,ENST00000544409,;LRTOMT,3_prime_UTR_variant,,ENST00000427369,;ANAPC15,intron_variant,,ENST00000538117,;LRTOMT,downstream_gene_variant,,ENST00000541899,;	2001	25	11	SUCCESS
OGFOD2	79676	.	GRCh37	12	123464035	123464035	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	3	9	0	ENST00000228922.7:c.*142A>T			ENST00000228922				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41855.1	.	MUTECT|MUSE	.	CAAAGATGCTG	NONE	.	.	.	.	.	ENSP00000380544	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000397389	Transcript	.	.	ENSG00000111325	25823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	OGFD2_HUMAN	OGFOD2	HGNC	F5H145_HUMAN	.	UPI000006DEB7	SNV	OGFOD2,3_prime_UTR_variant,,ENST00000397389,;ABCB9,5_prime_UTR_variant,,ENST00000542678,;OGFOD2,3_prime_UTR_variant,,ENST00000228922,;OGFOD2,3_prime_UTR_variant,,ENST00000536150,;OGFOD2,3_prime_UTR_variant,,ENST00000538755,;OGFOD2,3_prime_UTR_variant,,ENST00000454694,;OGFOD2,downstream_gene_variant,,ENST00000537966,;ARL6IP4,upstream_gene_variant,,ENST00000454885,;PITPNM2,downstream_gene_variant,,ENST00000280562,;PITPNM2,downstream_gene_variant,,ENST00000392428,;ARL6IP4,upstream_gene_variant,,ENST00000543566,;OGFOD2,downstream_gene_variant,,ENST00000545056,;ARL6IP4,upstream_gene_variant,,ENST00000392435,;OGFOD2,downstream_gene_variant,,ENST00000536439,;OGFOD2,downstream_gene_variant,,ENST00000538628,;ARL6IP4,upstream_gene_variant,,ENST00000412505,;ARL6IP4,upstream_gene_variant,,ENST00000439686,;ARL6IP4,upstream_gene_variant,,ENST00000315580,;ARL6IP4,upstream_gene_variant,,ENST00000413381,;OGFOD2,downstream_gene_variant,,ENST00000545317,;PITPNM2,downstream_gene_variant,,ENST00000320201,;ARL6IP4,upstream_gene_variant,,ENST00000426960,;PITPNM2,downstream_gene_variant,,ENST00000542749,;ARL6IP4,upstream_gene_variant,,ENST00000453766,;OGFOD2,downstream_gene_variant,,ENST00000545612,;ARL6IP4,upstream_gene_variant,,ENST00000357866,;ABCB9,upstream_gene_variant,,ENST00000543935,;ARL6IP4,upstream_gene_variant,,ENST00000456762,;ARL6IP4,upstream_gene_variant,,ENST00000542099,;ABCB9,upstream_gene_variant,,ENST00000392439,;ABCB9,upstream_gene_variant,,ENST00000442028,;OGFOD2,downstream_gene_variant,,ENST00000542940,;OGFOD2,downstream_gene_variant,,ENST00000541360,;OGFOD2,downstream_gene_variant,,ENST00000545033,;OGFOD2,downstream_gene_variant,,ENST00000544852,;OGFOD2,downstream_gene_variant,,ENST00000536615,;OGFOD2,downstream_gene_variant,,ENST00000542117,;OGFOD2,downstream_gene_variant,,ENST00000544358,;OGFOD2,downstream_gene_variant,,ENST00000535970,;OGFOD2,3_prime_UTR_variant,,ENST00000540324,;RP11-197N18.2,non_coding_transcript_exon_variant,,ENST00000540866,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000406539,;OGFOD2,downstream_gene_variant,,ENST00000542037,;ARL6IP4,upstream_gene_variant,,ENST00000442210,;OGFOD2,downstream_gene_variant,,ENST00000545976,;ARL6IP4,upstream_gene_variant,,ENST00000540708,;ARL6IP4,upstream_gene_variant,,ENST00000536073,;ARL6IP4,upstream_gene_variant,,ENST00000540382,;ARL6IP4,upstream_gene_variant,,ENST00000536502,;OGFOD2,downstream_gene_variant,,ENST00000545396,;OGFOD2,downstream_gene_variant,,ENST00000420319,;ARL6IP4,upstream_gene_variant,,ENST00000392433,;ARL6IP4,upstream_gene_variant,,ENST00000539770,;ARL6IP4,upstream_gene_variant,,ENST00000539576,;	1754	9	10	SUCCESS
DNAJC3	5611	.	GRCh37	13	96443505	96443505	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	13	0	ENST00000602402.1:c.*221C>T			ENST00000602402	NM_006260.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9479.1	.	MUTECT|MUSE	.	AGCAGCCTGCA	NONE	.	.	.	.	.	ENSP00000473631	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000602402	Transcript	.	.	ENSG00000102580	9439	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DNJC3_HUMAN	DNAJC3	HGNC	A8KA82_HUMAN	.	UPI000006F088	SNV	DNAJC3,3_prime_UTR_variant,,ENST00000376795,;DNAJC3,3_prime_UTR_variant,,ENST00000602402,;	1853	13	17	SUCCESS
CTSS	1520	.	GRCh37	1	150705417	150705417	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	44	11	35	0	ENST00000368985.3:c.*105T>C			ENST00000368985	NM_004079.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS968.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TAAATACACAT	NONE	.	.	.	.	.	ENSP00000357981	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000368985	Transcript	.	.	ENSG00000163131	2545	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CATS_HUMAN	CTSS	HGNC	.	.	UPI000013DFE1	SNV	CTSS,3_prime_UTR_variant,,ENST00000448301,;CTSS,3_prime_UTR_variant,,ENST00000368985,;CTSS,3_prime_UTR_variant,,ENST00000472977,;CTSS,3_prime_UTR_variant,,ENST00000483930,;CTSS,3_prime_UTR_variant,,ENST00000607427,;	1362	35	56	SUCCESS
RAPGEF4	11069	.	GRCh37	2	173916573	173916573	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	51	15	72	0	ENST00000397081.3:c.*78G>T			ENST00000397081	NM_007023.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42775.1	.	MUTECT|MUSE	.	TGACTGTATTG	NONE	.	.	.	.	.	ENSP00000380271	.	31/31	.	.	.	.	.	.	.	.	.	31/31	PASS	ENST00000397081	Transcript	.	.	ENSG00000091428	16626	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RPGF4_HUMAN	RAPGEF4	HGNC	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN	.	UPI000006D4C7	SNV	RAPGEF4,3_prime_UTR_variant,,ENST00000397087,;RAPGEF4,3_prime_UTR_variant,,ENST00000409036,;RAPGEF4,3_prime_UTR_variant,,ENST00000264111,;RAPGEF4,3_prime_UTR_variant,,ENST00000535187,;RAPGEF4,3_prime_UTR_variant,,ENST00000539331,;RAPGEF4,3_prime_UTR_variant,,ENST00000538974,;RAPGEF4,3_prime_UTR_variant,,ENST00000397081,;RAPGEF4,3_prime_UTR_variant,,ENST00000540783,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000484645,;	3257	72	66	SUCCESS
CBLB	868	.	GRCh37	3	105377716	105377716	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs755926660	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	35	0	ENST00000264122.4:c.*98C>T			ENST00000264122	NM_170662.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2948.1	.	MUTECT|MUSE	.	AGGAGGAGACA	NONE	.	.	.	.	.	ENSP00000264122	.	19/19	.	.	.	.	.	.	.	.	rs755926660	19/19	PASS	ENST00000264122	Transcript	.	.	ENSG00000114423	1542	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CBLB_HUMAN	CBLB	HGNC	C9JU85_HUMAN,B5MC15_HUMAN	.	UPI00001AE89F	SNV	CBLB,3_prime_UTR_variant,,ENST00000407712,;CBLB,3_prime_UTR_variant,,ENST00000394030,;CBLB,3_prime_UTR_variant,,ENST00000394027,;CBLB,3_prime_UTR_variant,,ENST00000264122,;CBLB,non_coding_transcript_exon_variant,,ENST00000476370,;	3369	35	43	SUCCESS
CABS1	85438	.	GRCh37	4	71202005	71202005	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	55	221	0	ENST00000273936.5:c.*61C>T			ENST00000273936	NM_033122.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3539.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACATCTAAGA	NONE	.	.	.	.	.	ENSP00000273936	.	1/2	.	.	.	.	.	.	.	.	.	1/2	PASS	ENST00000273936	Transcript	.	.	ENSG00000145309	30710	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CABS1_HUMAN	CABS1	HGNC	.	.	UPI0000071735	SNV	CABS1,3_prime_UTR_variant,,ENST00000273936,;	1323	221	145	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562669	140562669	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs782583100	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	15	63	0				ENST00000239444	NM_019120.3	179		0	.	.	.	.	.	T	R/W	protein_coding	YES	CCDS4251.1	535	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTTCCGGGTT	NONE	byFrequency	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	rs782583100	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	possibly_damaging(0.832)	.	deleterious_low_confidence(0)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Arg179Trp,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1690	63	76	SUCCESS
MLXIPL	51085	.	GRCh37	7	73008106	73008106	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	13	42	0	ENST00000313375.3:c.*89T>C			ENST00000313375	NM_032953.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5553.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGGAAGGGA	NONE	.	.	.	.	.	ENSP00000320886	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000313375	Transcript	.	.	ENSG00000009950	12744	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MLXPL_HUMAN	MLXIPL	HGNC	S5LSP3_HUMAN	.	UPI0000138F98	SNV	MLXIPL,3_prime_UTR_variant,,ENST00000313375,;MLXIPL,3_prime_UTR_variant,,ENST00000434326,;MLXIPL,3_prime_UTR_variant,,ENST00000395189,;MLXIPL,3_prime_UTR_variant,,ENST00000429400,;MLXIPL,3_prime_UTR_variant,,ENST00000354613,;MLXIPL,3_prime_UTR_variant,,ENST00000414749,;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,3_prime_UTR_variant,,ENST00000345114,;MLXIPL,downstream_gene_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000476404,;	2696	42	21	SUCCESS
C8orf48	157773	.	GRCh37	8	13425567	13425567	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	98	1	ENST00000297324.4:c.*107C>G			ENST00000297324	NM_001007090.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS47809.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGGACTAAGA	NONE	.	.	.	.	.	ENSP00000297324	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000297324	Transcript	.	.	ENSG00000164743	26345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CH048_HUMAN	C8orf48	HGNC	.	.	UPI000013E3F6	SNV	C8orf48,3_prime_UTR_variant,,ENST00000297324,;RP11-145O15.3,intron_variant,,ENST00000529018,;	1216	99	85	SUCCESS
ZNF275	10838	.	GRCh37	X	152615207	152615207	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-UB-A7MC-01	TCGA-UB-A7MC-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	2	66	75	0	ENST00000370251.3:c.*1976G>C			ENST00000370251	NM_001080485.3			0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAGGCTGGA	NONE	.	.	.	.	.	ENSP00000359271	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370251	Transcript	.	.	ENSG00000063587	13069	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	ZNF275	HGNC	A6NFS0_HUMAN	.	UPI000059DBB5	SNV	ZNF275,3_prime_UTR_variant,,ENST00000370251,;ZNF275,3_prime_UTR_variant,,ENST00000440091,;ZNF275,3_prime_UTR_variant,,ENST00000370249,;ZNF275,3_prime_UTR_variant,,ENST00000421401,;snoU13,upstream_gene_variant,,ENST00000459572,;ZNF275,upstream_gene_variant,,ENST00000438239,;	3143	75	69	SUCCESS
C10orf67	256815	.	GRCh37	10	23607744	23607744	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	35	13	49	0	ENST00000323327.4:c.*95G>T			ENST00000323327	NM_153714.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44365.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGTTACTTTCA	NONE	.	.	.	.	.	ENSP00000321464	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000323327	Transcript	.	.	ENSG00000179133	28716	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	CJ067_HUMAN	C10orf67	HGNC	.	.	UPI0000456365	SNV	C10orf67,3_prime_UTR_variant,,ENST00000323327,;C10orf67,intron_variant,,ENST00000376500,;	721	49	48	SUCCESS
ATN1	1822	.	GRCh37	12	7051012	7051012	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs762450306	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	23	0	ENST00000356654.4:c.*69G>C			ENST00000356654	NM_001007026.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31734.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGTGCCC	NONE	.	.	.	.	.	ENSP00000349076	.	10/10	.	.	.	.	.	.	.	.	rs762450306	10/10	PASS	ENST00000356654	Transcript	.	.	ENSG00000111676	3033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATN1_HUMAN	ATN1	HGNC	Q86V38_HUMAN	.	UPI000006F554	SNV	ATN1,3_prime_UTR_variant,,ENST00000356654,;ATN1,3_prime_UTR_variant,,ENST00000396684,;C12orf57,upstream_gene_variant,,ENST00000544681,;PTPN6,upstream_gene_variant,,ENST00000447931,;C12orf57,upstream_gene_variant,,ENST00000229281,;C12orf57,upstream_gene_variant,,ENST00000537087,;C12orf57,upstream_gene_variant,,ENST00000545581,;PTPN6,upstream_gene_variant,,ENST00000543115,;PTPN6,upstream_gene_variant,,ENST00000399448,;C12orf57,upstream_gene_variant,,ENST00000540506,;RNU7-1,upstream_gene_variant,,ENST00000458811,;U47924.31,downstream_gene_variant,,ENST00000607421,;PTPN6,upstream_gene_variant,,ENST00000534900,;PTPN6,upstream_gene_variant,,ENST00000543120,;C12orf57,upstream_gene_variant,,ENST00000542222,;ATN1,non_coding_transcript_exon_variant,,ENST00000537488,;C12orf57,upstream_gene_variant,,ENST00000538392,;PTPN6,upstream_gene_variant,,ENST00000542848,;PTPN6,upstream_gene_variant,,ENST00000538318,;ATN1,downstream_gene_variant,,ENST00000541029,;	3879	23	31	SUCCESS
ZBTB1	22890	.	GRCh37	14	64990377	64990377	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	87	44	126	0	ENST00000554015.1:c.*13T>A			ENST00000554015				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45126.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTACTGTACT	NONE	.	.	.	.	.	ENSP00000378201	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000394712	Transcript	.	.	ENSG00000126804	20259	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBTB1_HUMAN	ZBTB1	HGNC	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN	.	UPI00001FD6B2	SNV	ZBTB1,3_prime_UTR_variant,,ENST00000394712,;ZBTB1,3_prime_UTR_variant,,ENST00000554015,;ZBTB1,intron_variant,,ENST00000358738,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;	2546	126	131	SUCCESS
EARS2	124454	.	GRCh37	16	23535676	23535676	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs761966397	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	33	12	57	0	ENST00000449606.1:c.*16G>T			ENST00000449606	NM_001083614.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42132.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACTGCCCGAAA	NONE	byFrequency	.	.	.	.	ENSP00000395196	.	9/9	.	.	.	.	.	.	.	.	rs761966397	9/9	PASS	ENST00000449606	Transcript	.	.	ENSG00000103356	29419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYEM_HUMAN	EARS2	HGNC	.	.	UPI000015FBF2	SNV	EARS2,3_prime_UTR_variant,,ENST00000449606,;EARS2,3_prime_UTR_variant,,ENST00000563459,;GGA2,upstream_gene_variant,,ENST00000569300,;EARS2,downstream_gene_variant,,ENST00000563232,;EARS2,downstream_gene_variant,,ENST00000564501,;EARS2,non_coding_transcript_exon_variant,,ENST00000564987,;EARS2,upstream_gene_variant,,ENST00000564759,;EARS2,upstream_gene_variant,,ENST00000564776,;	1620	57	46	SUCCESS
FAM217B	63939	.	GRCh37	20	58520240	58520240	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	89	5	120	0	ENST00000358293.3:c.*90T>A			ENST00000358293	NM_001190826.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13484.1	.	MUTECT|MUSE	.	GAATTTTACAA	NONE	.	.	.	.	.	ENSP00000351040	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000358293	Transcript	.	.	ENSG00000196227	16170	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	F217B_HUMAN	FAM217B	HGNC	B4E2D0_HUMAN,A2A2M7_HUMAN	.	UPI0000128624	SNV	FAM217B,3_prime_UTR_variant,,ENST00000358293,;FAM217B,3_prime_UTR_variant,,ENST00000360816,;FAM217B,downstream_gene_variant,,ENST00000421092,;PPP1R3D,upstream_gene_variant,,ENST00000370996,;FAM217B,downstream_gene_variant,,ENST00000469084,;	1657	120	94	SUCCESS
ICA1L	130026	.	GRCh37	2	203644170	203644170	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1264432349	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	5	18	0	ENST00000358299.2:c.*86G>A			ENST00000358299				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2354.1	.	MUTECT|MUSE|VARSCANS	.	GTGTGCGGGTT	NONE	.	.	.	.	.	ENSP00000376070	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000392237	Transcript	.	.	ENSG00000163596	14442	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ICA1L_HUMAN	ICA1L	HGNC	C9JRB6_HUMAN,C9JP49_HUMAN,C9JEP0_HUMAN,C9JEN4_HUMAN,C9JDM8_HUMAN,C9JDK6_HUMAN,C9JAQ4_HUMAN,C9J9Z8_HUMAN,C9J5Z0_HUMAN,C9J1M7_HUMAN	.	UPI000007263F	SNV	ICA1L,3_prime_UTR_variant,,ENST00000392237,;ICA1L,3_prime_UTR_variant,,ENST00000358299,;ICA1L,3_prime_UTR_variant,,ENST00000438804,;	1693	18	22	SUCCESS
CXCR2	3579	.	GRCh37	2	219001157	219001157	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	33	17	32	0	ENST00000318507.2:c.*550T>A			ENST00000318507	NM_001557.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2408.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTCAGTCCATG	NONE	.	.	.	.	.	ENSP00000319635	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000318507	Transcript	.	.	ENSG00000180871	6027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXCR2_HUMAN	CXCR2	HGNC	Q53PC4_HUMAN,C9JW47_HUMAN,C9JG19_HUMAN,C9J2F9_HUMAN,C9J1J7_HUMAN	.	UPI000004358A	SNV	CXCR2,3_prime_UTR_variant,,ENST00000318507,;CXCR2,downstream_gene_variant,,ENST00000418878,;CXCR2,downstream_gene_variant,,ENST00000428565,;CXCR2,downstream_gene_variant,,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000454148,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000453237,;	2060	32	50	SUCCESS
CCDC140	151278	.	GRCh37	2	223169197	223169197	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	51	174	0	ENST00000295226.1:c.*84A>G			ENST00000295226	NM_153038.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2452.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCTAAGCTT	NONE	.	.	.	.	.	ENSP00000295226	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000295226	Transcript	.	.	ENSG00000163081	26514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CC140_HUMAN	CCDC140	HGNC	.	.	UPI000006ED1E	SNV	CCDC140,3_prime_UTR_variant,,ENST00000295226,;CCDC140,downstream_gene_variant,,ENST00000440903,;	960	175	147	SUCCESS
CLRN1	7401	.	GRCh37	3	150644391	150644391	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs945872558	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	11	0	ENST00000327047.1:c.*1332G>A			ENST00000327047	NM_174878.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56285.1	.	MUTECT|MUSE	.	GCTGGCGAATA	NONE	.	1332	.	.	.	ENSP00000329158	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000328863	Transcript	.	.	ENSG00000163646	12605	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLRN1_HUMAN	CLRN1	HGNC	.	.	UPI0001E43709	SNV	CLRN1,3_prime_UTR_variant,,ENST00000327047,;CLRN1,3_prime_UTR_variant,,ENST00000295911,;CLRN1,downstream_gene_variant,,ENST00000485607,;CLRN1,downstream_gene_variant,,ENST00000328863,;CLRN1,downstream_gene_variant,,ENST00000468836,;RP11-166N6.2,intron_variant,,ENST00000469268,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.3,intron_variant,,ENST00000562308,;RP11-166N6.3,intron_variant,,ENST00000569170,;RP11-166N6.3,intron_variant,,ENST00000565169,;	.	11	16	SUCCESS
CCR5	1234	.	GRCh37	3	46415788	46415788	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	48	15	55	0	ENST00000292303.4:c.*336T>C			ENST00000292303	NM_001100168.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2739.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTCTTGAGT	NONE	.	.	.	.	.	ENSP00000343985	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000343801	Transcript	.	.	ENSG00000160791	1606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCR5_HUMAN	CCR5	HGNC	Q9UBT9_HUMAN,Q9P1T4_HUMAN,Q5KSY4_HUMAN,Q5EKN0_HUMAN,Q38L21_HUMAN,J7HJP8_HUMAN,E7BJ57_HUMAN,B8LFP0_HUMAN,B8LFN8_HUMAN,A1A490_HUMAN	.	UPI000000D955	SNV	CCR5,3_prime_UTR_variant,,ENST00000292303,;CCR5,3_prime_UTR_variant,,ENST00000343801,;CCR5,downstream_gene_variant,,ENST00000445772,;RP11-24F11.2,intron_variant,,ENST00000451485,;	1752	55	64	SUCCESS
PAIP1P1	100421582	.	GRCh37	6	30156977	30156977	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	21	6	36	0				ENST00000446875				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4678.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTCCCTGGGG	NONE	.	.	.	.	.	ENSP00000410446	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454678	Transcript	.	.	ENSG00000234127	12962	.	.	HIGH	8/9	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI26_HUMAN	TRIM26	HGNC	Q5SPU2_HUMAN,A2AE50_HUMAN,A2AE48_HUMAN	.	UPI0000001C20	SNV	TRIM26,splice_acceptor_variant,,ENST00000454678,;TRIM26,splice_acceptor_variant,,ENST00000453195,;TRIM26,splice_acceptor_variant,,ENST00000437089,;TRIM26,splice_acceptor_variant,,ENST00000480999,;PAIP1P1,upstream_gene_variant,,ENST00000446875,;	.	36	28	SUCCESS
CMTR1	23070	.	GRCh37	6	37448869	37448869	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	9	124	0	ENST00000373451.4:c.*948C>T			ENST00000373451	NM_015050.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4835.1	.	MUTECT|MUSE|VARSCANS	.	CTACCCTTTCC	NONE	.	.	.	.	.	ENSP00000362550	.	24/24	.	.	.	.	.	.	.	.	.	24/24	PASS	ENST00000373451	Transcript	.	.	ENSG00000137200	21077	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CMTR1_HUMAN	CMTR1	HGNC	.	.	UPI00000700C2	SNV	CMTR1,3_prime_UTR_variant,,ENST00000373451,;CMTR1,intron_variant,,ENST00000457419,;CCDC167,downstream_gene_variant,,ENST00000373408,;CMTR1,downstream_gene_variant,,ENST00000475364,;	3620	124	98	SUCCESS
BCKDHB	594	.	GRCh37	6	81053670	81053670	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	23	0	ENST00000320393.6:c.*149T>A			ENST00000320393	NM_183050.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4994.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATAATGTGCT	NONE	.	.	.	.	.	ENSP00000318351	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000320393	Transcript	.	.	ENSG00000083123	987	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ODBB_HUMAN	BCKDHB	HGNC	Q6LCK9_HUMAN,B7ZB80_HUMAN	.	UPI0000001C97	SNV	BCKDHB,3_prime_UTR_variant,,ENST00000320393,;BCKDHB,3_prime_UTR_variant,,ENST00000545529,;BCKDHB,intron_variant,,ENST00000356489,;BCKDHB,intron_variant,,ENST00000491328,;	1375	23	16	SUCCESS
SPANXN1	494118	.	GRCh37	X	144337477	144337477	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs188455640	.	TCGA-UB-A7MD-01	TCGA-UB-A7MD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	30	0	ENST00000370493.3:c.*143A>G			ENST00000370493	NM_001009614.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS35421.1	.	MUTECT|MUSE	.	CCTAGACTTAC	NONE	by1000G	.	.	.	.	ENSP00000359524	.	2/2	.	.	.	.	.	.	.	.	rs188455640	2/2	PASS	ENST00000370493	Transcript	.	.	ENSG00000203923	33174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPXN1_HUMAN	SPANXN1	HGNC	.	.	UPI0000458AF7	SNV	SPANXN1,3_prime_UTR_variant,,ENST00000370493,;	1121	30	17	SUCCESS
MYEOV	26579	.	GRCh37	11	69063994	69063994	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	4	18	17	0	ENST00000308946.3:c.*135A>G			ENST00000308946	NM_138768.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8190.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCCTAAGTTC	NONE	.	.	.	.	.	ENSP00000308330	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000308946	Transcript	.	.	ENSG00000172927	7563	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MYEOV_HUMAN	MYEOV	HGNC	F5H0B3_HUMAN	.	UPI0000039DE8	SNV	MYEOV,3_prime_UTR_variant,,ENST00000308946,;MYEOV,3_prime_UTR_variant,,ENST00000535407,;MYEOV,3_prime_UTR_variant,,ENST00000441339,;MYEOV,intron_variant,,ENST00000544008,;MYEOV,downstream_gene_variant,,ENST00000539691,;MYEOV,downstream_gene_variant,,ENST00000540760,;MYEOV,downstream_gene_variant,,ENST00000535597,;MYEOV,non_coding_transcript_exon_variant,,ENST00000535653,;MYEOV,upstream_gene_variant,,ENST00000544781,;	1527	17	23	SUCCESS
P2RY6	5031	.	GRCh37	11	73008576	73008576	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs755479716	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	93	7	72	0	ENST00000349767.2:c.*26A>G			ENST00000349767	NM_176796.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8220.1	.	MUTECT|MUSE	.	CCTTCATATTT	NONE	.	.	.	.	.	ENSP00000377215	.	2/2	.	.	.	.	.	.	.	.	rs755479716	2/2	PASS	ENST00000393590	Transcript	.	.	ENSG00000171631	8543	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	P2RY6_HUMAN	P2RY6	HGNC	F5GYF3_HUMAN,F5GX90_HUMAN	.	UPI000005041C	SNV	P2RY6,3_prime_UTR_variant,,ENST00000538328,;P2RY6,3_prime_UTR_variant,,ENST00000540342,;P2RY6,3_prime_UTR_variant,,ENST00000349767,;P2RY6,3_prime_UTR_variant,,ENST00000540124,;P2RY6,3_prime_UTR_variant,,ENST00000542092,;P2RY6,3_prime_UTR_variant,,ENST00000393592,;P2RY6,3_prime_UTR_variant,,ENST00000393591,;P2RY6,3_prime_UTR_variant,,ENST00000393590,;P2RY6,downstream_gene_variant,,ENST00000544437,;P2RY6,downstream_gene_variant,,ENST00000536225,;P2RY6,downstream_gene_variant,,ENST00000535931,;	1312	72	100	SUCCESS
LGALS9C	654346	.	GRCh37	17	18397733	18397733	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	266	73	353	0	ENST00000328114.6:c.*52C>T			ENST00000328114	NM_001040078.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS32587.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCTCTCA	NONE	.	.	.	.	.	ENSP00000329932	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000328114	Transcript	.	.	ENSG00000171916	33874	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LEG9C_HUMAN	LGALS9C	HGNC	C9JHN9_HUMAN	.	UPI00006C1768	SNV	LGALS9C,3_prime_UTR_variant,,ENST00000584941,;LGALS9C,3_prime_UTR_variant,,ENST00000412421,;LGALS9C,3_prime_UTR_variant,,ENST00000328114,;LGALS9C,3_prime_UTR_variant,,ENST00000581545,;LGALS9C,3_prime_UTR_variant,,ENST00000583322,;LGALS9C,downstream_gene_variant,,ENST00000582333,;LGALS9C,3_prime_UTR_variant,,ENST00000579773,;LGALS9C,3_prime_UTR_variant,,ENST00000580674,;LGALS9C,3_prime_UTR_variant,,ENST00000577691,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000584127,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000577265,;LGALS9C,downstream_gene_variant,,ENST00000578450,;NOS2P2,downstream_gene_variant,,ENST00000426269,;	1204	353	340	SUCCESS
HEXIM1	10614	.	GRCh37	17	43227680	43227687	+	3_prime_UTR_variant	3'UTR	DEL	AGTGATGG	AGTGATGG	-	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	AGTGATGG	AGTGATGG	.	.	.	.	.	.	.	.	.	.	.	.	.	102	16	115	0	ENST00000332499.2:c.*44_*51del			ENST00000332499	NM_006460.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11495.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTTACAGTGATGGAATGT	NONE	.	.	.	.	.	ENSP00000328773	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332499	Transcript	.	.	ENSG00000186834	24953	1	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	HEXI1_HUMAN	HEXIM1	HGNC	.	.	UPI000006E405	deletion	HEXIM1,3_prime_UTR_variant,,ENST00000332499,;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;	2997-3004	115	118	SUCCESS
CTD-3105H18.14	0	.	GRCh37	19	12491421	12491421	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	T	rs771115499	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	51	0	ENST00000435033.1:c.*830C>A			ENST00000435033				0	.	.	.	.	.	T	.	nonsense_mediated_decay	YES	.	.	MUTECT|MUSE	.	TCTTTGGAAGC	NONE	.	.	.	.	.	ENSP00000394047	.	4/4	.	.	.	.	.	.	.	.	rs771115499	4/4	PASS	ENST00000435033	Transcript	.	.	ENSG00000268744	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CTD-3105H18.14	Clone_based_vega_gene	F2Z351_HUMAN	.	UPI00001CE054	SNV	CTD-3105H18.14,3_prime_UTR_variant,,ENST00000435033,;CTD-3105H18.4,non_coding_transcript_exon_variant,,ENST00000507003,;	1175	51	49	SUCCESS
RASGRP4	115727	.	GRCh37	19	38900605	38900605	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	15	54	0	ENST00000587738.1:c.*75G>T			ENST00000587738				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46068.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGAGCCCTGCC	NONE	.	.	.	.	.	ENSP00000465772	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000587738	Transcript	.	.	ENSG00000171777	18958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRP4_HUMAN	RASGRP4	HGNC	.	.	UPI0000050F40	SNV	RASGRP4,3_prime_UTR_variant,,ENST00000426920,;RASGRP4,3_prime_UTR_variant,,ENST00000293062,;RASGRP4,3_prime_UTR_variant,,ENST00000587738,;RASGRP4,3_prime_UTR_variant,,ENST00000587753,;RASGRP4,3_prime_UTR_variant,,ENST00000454404,;RASGRP4,3_prime_UTR_variant,,ENST00000586305,;RASGRP4,3_prime_UTR_variant,,ENST00000433821,;FAM98C,downstream_gene_variant,,ENST00000588262,;FAM98C,downstream_gene_variant,,ENST00000252530,;FAM98C,downstream_gene_variant,,ENST00000343358,;FAM98C,downstream_gene_variant,,ENST00000589408,;FAM98C,downstream_gene_variant,,ENST00000585954,;RASGRP4,3_prime_UTR_variant,,ENST00000589358,;RASGRP4,3_prime_UTR_variant,,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000587287,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588708,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;FAM98C,downstream_gene_variant,,ENST00000589027,;FAM98C,downstream_gene_variant,,ENST00000589029,;FAM98C,downstream_gene_variant,,ENST00000588348,;FAM98C,downstream_gene_variant,,ENST00000592992,;FAM98C,downstream_gene_variant,,ENST00000586372,;RASGRP4,downstream_gene_variant,,ENST00000589100,;	2168	54	61	SUCCESS
NKG7	4818	.	GRCh37	19	51874926	51874926	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	7	24	0	ENST00000221978.5:c.*105T>A			ENST00000221978	NM_005601.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12830.1	.	MUTECT|MUSE	.	GGGGAAGGGCT	NONE	.	.	.	.	.	ENSP00000221978	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000221978	Transcript	.	.	ENSG00000105374	7830	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NKG7_HUMAN	NKG7	HGNC	.	.	UPI00001301FE	SNV	NKG7,3_prime_UTR_variant,,ENST00000595217,;NKG7,3_prime_UTR_variant,,ENST00000221978,;NKG7,3_prime_UTR_variant,,ENST00000600427,;NKG7,3_prime_UTR_variant,,ENST00000593572,;CLDND2,upstream_gene_variant,,ENST00000601435,;CLDND2,upstream_gene_variant,,ENST00000291715,;CLDND2,upstream_gene_variant,,ENST00000593841,;NKG7,downstream_gene_variant,,ENST00000595157,;CTD-2616J11.11,upstream_gene_variant,,ENST00000600067,;	783	24	29	SUCCESS
TIAM1	7074	.	GRCh37	21	32490779	32490779	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	9	46	0	ENST00000286827.3:c.*1907G>T			ENST00000286827	NM_003253.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13609.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACGTTCCATTC	NONE	.	.	.	.	.	ENSP00000286827	.	29/29	.	.	.	.	.	.	.	.	.	29/29	PASS	ENST00000286827	Transcript	.	.	ENSG00000156299	11805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TIAM1_HUMAN	TIAM1	HGNC	C9JMB5_HUMAN	.	UPI000013DE6F	SNV	TIAM1,3_prime_UTR_variant,,ENST00000286827,;TIAM1,3_prime_UTR_variant,,ENST00000423206,;TIAM1,downstream_gene_variant,,ENST00000541036,;	7155	46	55	SUCCESS
RAP2B	5912	.	GRCh37	3	152884962	152884962	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	60	8	71	0	ENST00000323534.2:c.*3928A>T			ENST00000323534	NM_002886.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3170.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AATATAATGTG	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,3_prime_UTR_variant,,ENST00000323534,;	4934	71	68	SUCCESS
CCDC39	339829	.	GRCh37	3	180332577	180332577	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs887714654	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	8	0	ENST00000442201.2:c.*132T>A			ENST00000442201	NM_181426.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46964.1	.	MUTECT|MUSE	.	TTTTTAAAACT	NONE	.	.	.	.	.	ENSP00000405708	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000442201	Transcript	.	.	ENSG00000145075	25244	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CCD39_HUMAN	CCDC39	HGNC	.	.	UPI00015D7298	SNV	CCDC39,3_prime_UTR_variant,,ENST00000273654,;CCDC39,3_prime_UTR_variant,,ENST00000442201,;TTC14,intron_variant,,ENST00000382584,;CCDC39,intron_variant,,ENST00000489868,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000296015,;TTC14,downstream_gene_variant,,ENST00000412756,;TTC14,downstream_gene_variant,,ENST00000487397,;TTC14,downstream_gene_variant,,ENST00000465625,;CCDC39,3_prime_UTR_variant,,ENST00000476379,;TTC14,downstream_gene_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000470669,;	3078	8	13	SUCCESS
ZFP42	132625	.	GRCh37	4	188925254	188925254	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	130	36	204	0	ENST00000326866.4:c.*360A>T			ENST00000326866	NM_174900.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3849.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATGAAAATAA	NONE	.	.	.	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,3_prime_UTR_variant,,ENST00000326866,;ZFP42,3_prime_UTR_variant,,ENST00000509524,;	1701	204	166	SUCCESS
ADAMTS3	9508	.	GRCh37	4	73148765	73148765	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	33	0	ENST00000286657.4:c.*88T>G			ENST00000286657	NM_014243.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3553.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TAGAGATTTCC	NONE	.	.	.	.	.	ENSP00000286657	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000286657	Transcript	.	.	ENSG00000156140	219	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATS3_HUMAN	ADAMTS3	HGNC	Q96AY5_HUMAN	.	UPI00001AEAEA	SNV	ADAMTS3,3_prime_UTR_variant,,ENST00000286657,;	3743	33	23	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562737	140562737	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs781804251	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	24	72	0				ENST00000239444	NM_019120.3	201		0	.	.	.	.	.	A	D/E	protein_coding	YES	CCDS4251.1	603	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGGATCGGGA	NONE	.	.	Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	rs781804251	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	probably_damaging(1)	.	deleterious_low_confidence(0)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Asp201Glu,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1758	72	76	SUCCESS
DEF6	50619	.	GRCh37	6	35289348	35289348	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7ME-01	TCGA-UB-A7ME-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	8	0	ENST00000316637.5:c.*161A>T			ENST00000316637	NM_022047.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4802.1	.	MUTECT|MUSE|VARSCANS	.	GGTTCACCCTT	NONE	.	.	.	.	.	ENSP00000319831	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000316637	Transcript	.	.	ENSG00000023892	2760	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	DEFI6_HUMAN	DEF6	HGNC	.	.	UPI000006E74E	SNV	DEF6,3_prime_UTR_variant,,ENST00000316637,;DEF6,3_prime_UTR_variant,,ENST00000542066,;DEF6,downstream_gene_variant,,ENST00000468102,;	2062	8	16	SUCCESS
GTPBP4	23560	.	GRCh37	10	1063248	1063248	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	24	48	0	ENST00000360803.4:c.*81A>G			ENST00000360803	NM_012341.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS31132.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGGAGCTCT	NONE	.	.	.	.	.	ENSP00000354040	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000360803	Transcript	.	.	ENSG00000107937	21535	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOG1_HUMAN	GTPBP4	HGNC	Q5T3R7_HUMAN,D2CFK9_HUMAN,B7Z7A3_HUMAN,B4DY13_HUMAN	.	UPI000000D960	SNV	GTPBP4,3_prime_UTR_variant,,ENST00000545048,;GTPBP4,3_prime_UTR_variant,,ENST00000360803,;GTPBP4,3_prime_UTR_variant,,ENST00000538293,;IDI2,downstream_gene_variant,,ENST00000277517,;GTPBP4,downstream_gene_variant,,ENST00000483839,;	2068	48	52	SUCCESS
PPP2R1B	5519	.	GRCh37	11	111612223	111612223	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	11	42	0	ENST00000527614.1:c.*97A>T			ENST00000527614	NM_001177562.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8348.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCTTGAAG	NONE	.	.	.	.	.	ENSP00000311344	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000311129	Transcript	.	.	ENSG00000137713	9303	.	.	MODIFIER	14/15	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	2AAB_HUMAN	PPP2R1B	HGNC	.	.	UPI000006CEE0	SNV	PPP2R1B,3_prime_UTR_variant,,ENST00000527614,;PPP2R1B,3_prime_UTR_variant,,ENST00000427203,;PPP2R1B,3_prime_UTR_variant,,ENST00000341980,;PPP2R1B,intron_variant,,ENST00000311129,;PPP2R1B,intron_variant,,ENST00000426998,;PPP2R1B,downstream_gene_variant,,ENST00000393055,;PPP2R1B,downstream_gene_variant,,ENST00000531890,;PPP2R1B,upstream_gene_variant,,ENST00000526287,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;PPP2R1B,downstream_gene_variant,,ENST00000529672,;	.	42	53	SUCCESS
SNORD14B	85388	.	GRCh37	11	17099435	17099435	+	upstream_gene_variant	5'Flank	SNP	A	A	G	rs1395108839	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	17	11	33	0				ENST00000364533	NR_001452.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7823.1	.	MUTECT|MUSE	.	GCGGGAATTTG	NONE	.	101	.	.	.	ENSP00000435777	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000525634	Transcript	.	.	ENSG00000110700	10386	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RS13_HUMAN	RPS13	HGNC	.	.	UPI0000003EFE	SNV	RPS13,upstream_gene_variant,,ENST00000533969,;RPS13,upstream_gene_variant,,ENST00000525634,;RPS13,upstream_gene_variant,,ENST00000228140,;AC116533.1,downstream_gene_variant,,ENST00000408395,;SNORD14A,upstream_gene_variant,,ENST00000606526,;SNORD14B,upstream_gene_variant,,ENST00000364533,;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;RPS13,upstream_gene_variant,,ENST00000526895,;RPS13,upstream_gene_variant,,ENST00000531008,;RPS13,upstream_gene_variant,,ENST00000534329,;RPS13,upstream_gene_variant,,ENST00000531908,;RPS13,upstream_gene_variant,,ENST00000525828,;RPS13,upstream_gene_variant,,ENST00000528074,;RPS13,upstream_gene_variant,,ENST00000527571,;	.	33	29	SUCCESS
OR52R1	119695	.	GRCh37	11	4825734	4825734	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	48	32	79	0				ENST00000356069	NM_001005177.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31360.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATTGGGTTTG	NONE	.	124	.	.	.	ENSP00000348368	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356069	Transcript	.	.	ENSG00000176937	15235	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	O52R1_HUMAN	OR52R1	HGNC	.	.	UPI0000140D5C	SNV	OR52R1,synonymous_variant,p.%3D,ENST00000380382,;MMP26,intron_variant,,ENST00000380390,;OR52R1,upstream_gene_variant,,ENST00000356069,;MMP26,intron_variant,,ENST00000477339,;	.	79	80	SUCCESS
DIABLO	56616	.	GRCh37	12	122692863	122692863	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	4	23	0	ENST00000443649.3:c.*65C>T			ENST00000443649	NM_019887.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9228.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGGCAGG	NONE	.	.	.	.	.	ENSP00000398495	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000443649	Transcript	.	.	ENSG00000184047	21528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	DBLOH_HUMAN	DIABLO	HGNC	F5H796_HUMAN,F5H0Q4_HUMAN,F5GYH3_HUMAN,F5GX50_HUMAN	.	UPI0000000CBE	SNV	DIABLO,3_prime_UTR_variant,,ENST00000353548,;DIABLO,3_prime_UTR_variant,,ENST00000464942,;DIABLO,3_prime_UTR_variant,,ENST00000413918,;B3GNT4,3_prime_UTR_variant,,ENST00000546192,;DIABLO,3_prime_UTR_variant,,ENST00000439489,;DIABLO,3_prime_UTR_variant,,ENST00000267169,;DIABLO,3_prime_UTR_variant,,ENST00000443649,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000474004,;B3GNT4,downstream_gene_variant,,ENST00000535274,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000541273,;DIABLO,downstream_gene_variant,,ENST00000446652,;LRRC43,downstream_gene_variant,,ENST00000425921,;LRRC43,downstream_gene_variant,,ENST00000339777,;B3GNT4,downstream_gene_variant,,ENST00000324189,;B3GNT4,intron_variant,,ENST00000545141,;B3GNT4,downstream_gene_variant,,ENST00000538257,;B3GNT4,downstream_gene_variant,,ENST00000537991,;DIABLO,3_prime_UTR_variant,,ENST00000342392,;RP11-512M8.5,3_prime_UTR_variant,,ENST00000535844,;	1603	23	23	SUCCESS
C2CD5	9847	.	GRCh37	12	22602655	22602655	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	65	14	73	0	ENST00000333957.4:c.*39A>G			ENST00000333957	NM_014802.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31758.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ATTGATGAATT	NONE	.	.	.	.	.	ENSP00000334229	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000333957	Transcript	.	.	ENSG00000111731	29062	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	C2CD5_HUMAN	C2CD5	HGNC	.	.	UPI000000D850	SNV	C2CD5,3_prime_UTR_variant,,ENST00000545552,;C2CD5,3_prime_UTR_variant,,ENST00000333957,;C2CD5,3_prime_UTR_variant,,ENST00000544930,;C2CD5,3_prime_UTR_variant,,ENST00000542676,;C2CD5,3_prime_UTR_variant,,ENST00000396028,;C2CD5,3_prime_UTR_variant,,ENST00000446597,;C2CD5,3_prime_UTR_variant,,ENST00000536386,;C2CD5,downstream_gene_variant,,ENST00000539615,;	3298	73	79	SUCCESS
ATXN7L3B	552889	.	GRCh37	12	74933017	74933017	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	42	65	0	ENST00000519948.2:c.*831G>T			ENST00000519948	NM_001136262.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53815.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCATGTCTGG	NONE	.	.	.	.	.	ENSP00000430000	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000519948	Transcript	.	.	ENSG00000253719	37931	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	A7L3B_HUMAN	ATXN7L3B	HGNC	.	.	UPI00001FC7BD	SNV	ATXN7L3B,3_prime_UTR_variant,,ENST00000519948,;RP11-56G10.2,upstream_gene_variant,,ENST00000550926,;	1467	65	76	SUCCESS
CERS3	204219	.	GRCh37	15	100942754	100942754	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	11	0	ENST00000284382.4:c.*164A>G			ENST00000284382	NM_178842.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10384.1	.	MUTECT|MUSE	.	ACATTTTAACA	NONE	.	.	.	.	.	ENSP00000284382	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000284382	Transcript	1	.	ENSG00000154227	23752	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CERS3_HUMAN	CERS3	HGNC	H0YN05_HUMAN,H0YMG6_HUMAN	.	UPI00001975AB	SNV	CERS3,3_prime_UTR_variant,,ENST00000284382,;CERS3,3_prime_UTR_variant,,ENST00000394113,;CERS3,3_prime_UTR_variant,,ENST00000538112,;RP11-168G16.2,intron_variant,,ENST00000560643,;RP11-168G16.2,intron_variant,,ENST00000560718,;CERS3,non_coding_transcript_exon_variant,,ENST00000560944,;	1740	11	13	SUCCESS
MYO5C	55930	.	GRCh37	15	52486054	52486054	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	5	34	0	ENST00000261839.7:c.*45G>T			ENST00000261839	NM_018728.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS42036.1	.	MUTECT|MUSE	.	TGAACCTTCAC	NONE	.	.	.	.	.	ENSP00000261839	.	41/41	.	.	.	.	.	.	.	.	.	41/41	PASS	ENST00000261839	Transcript	.	.	ENSG00000128833	7604	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MYO5C_HUMAN	MYO5C	HGNC	Q14783_HUMAN,H0YM93_HUMAN	.	UPI000013D20E	SNV	MYO5C,3_prime_UTR_variant,,ENST00000261839,;GNB5,upstream_gene_variant,,ENST00000261837,;RP11-430B1.2,intron_variant,,ENST00000559779,;RP11-430B1.2,intron_variant,,ENST00000560518,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;GNB5,upstream_gene_variant,,ENST00000560075,;	5436	34	37	SUCCESS
PDE9A	5152	.	GRCh37	21	44195410	44195410	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs772253038	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	47	149	0	ENST00000291539.6:c.*7C>T			ENST00000291539	NM_002606.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13690.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAAGCGGGGG	NONE	.	.	.	.	.	ENSP00000291539	.	20/20	.	.	.	.	.	.	.	.	rs772253038	20/20	PASS	ENST00000291539	Transcript	.	.	ENSG00000160191	8795	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PDE9A_HUMAN	PDE9A	HGNC	.	.	UPI0000127C02	SNV	PDE9A,3_prime_UTR_variant,,ENST00000335512,;PDE9A,3_prime_UTR_variant,,ENST00000398224,;PDE9A,3_prime_UTR_variant,,ENST00000398234,;PDE9A,3_prime_UTR_variant,,ENST00000539837,;PDE9A,3_prime_UTR_variant,,ENST00000291539,;PDE9A,3_prime_UTR_variant,,ENST00000349112,;PDE9A,3_prime_UTR_variant,,ENST00000398232,;PDE9A,3_prime_UTR_variant,,ENST00000398225,;PDE9A,3_prime_UTR_variant,,ENST00000398236,;PDE9A,3_prime_UTR_variant,,ENST00000398229,;PDE9A,3_prime_UTR_variant,,ENST00000335440,;PDE9A,3_prime_UTR_variant,,ENST00000398227,;PDE9A,3_prime_UTR_variant,,ENST00000328862,;PDE9A,3_prime_UTR_variant,,ENST00000380328,;PDE9A,non_coding_transcript_exon_variant,,ENST00000462571,;PDE9A,non_coding_transcript_exon_variant,,ENST00000495521,;PDE9A,non_coding_transcript_exon_variant,,ENST00000490803,;PDE9A,non_coding_transcript_exon_variant,,ENST00000470987,;PDE9A,non_coding_transcript_exon_variant,,ENST00000497805,;PDE9A,non_coding_transcript_exon_variant,,ENST00000468805,;PDE9A,non_coding_transcript_exon_variant,,ENST00000495343,;PDE9A,non_coding_transcript_exon_variant,,ENST00000460989,;PDE9A,non_coding_transcript_exon_variant,,ENST00000467403,;PDE9A,non_coding_transcript_exon_variant,,ENST00000489319,;	1849	149	108	SUCCESS
FSTL5	56884	.	GRCh37	4	162306811	162306811	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs188920078	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	27	43	0	ENST00000306100.5:c.*88T>A			ENST00000306100	NM_001128427.2			0	.	C:0	.	C:0	.	T	.	protein_coding	YES	CCDS3802.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TATAAACTTGG	NONE	by1000G	.	.	C:0.001	.	ENSP00000305334	C:0	16/16	.	.	.	.	.	.	.	.	rs188920078	16/16	PASS	ENST00000306100	Transcript	.	C:0.0002	ENSG00000168843	21386	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	C:0	.	.	FSTL5_HUMAN	FSTL5	HGNC	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN	.	UPI000020B66B	SNV	FSTL5,3_prime_UTR_variant,,ENST00000379164,;FSTL5,3_prime_UTR_variant,,ENST00000306100,;FSTL5,downstream_gene_variant,,ENST00000536695,;FSTL5,downstream_gene_variant,,ENST00000427802,;RP11-234O6.2,intron_variant,,ENST00000508189,;	3069	43	41	SUCCESS
GAPT	202309	.	GRCh37	5	57791970	57791970	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1208449658	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	21	54	0	ENST00000318469.2:c.*1133A>G			ENST00000318469				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3975.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTAGGACATTT	NONE	.	.	.	.	.	ENSP00000379997	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000396776	Transcript	.	.	ENSG00000175857	26588	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GAPT_HUMAN	GAPT	HGNC	D6RBK7_HUMAN,D6RA63_HUMAN	.	UPI0000039EFF	SNV	GAPT,3_prime_UTR_variant,,ENST00000396776,;GAPT,3_prime_UTR_variant,,ENST00000318469,;GAPT,downstream_gene_variant,,ENST00000502276,;GAPT,downstream_gene_variant,,ENST00000511930,;GAPT,intron_variant,,ENST00000511178,;GAPT,downstream_gene_variant,,ENST00000515443,;GAPT,downstream_gene_variant,,ENST00000513924,;	2069	54	63	SUCCESS
PPIL4	85313	.	GRCh37	6	149826488	149826488	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	3	23	0	ENST00000253329.2:c.*101T>A			ENST00000253329	NM_139126.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34550.1	.	MUTECT|MUSE	.	AAAAAAATAAC	NONE	.	.	.	.	.	ENSP00000253329	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000253329	Transcript	.	.	ENSG00000131013	15702	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PPIL4_HUMAN	PPIL4	HGNC	Q9P1R3_HUMAN,Q9H287_HUMAN,Q96AL2_HUMAN	.	UPI0000037A9C	SNV	PPIL4,3_prime_UTR_variant,,ENST00000340881,;PPIL4,3_prime_UTR_variant,,ENST00000253329,;	1613	23	33	SUCCESS
CLDN12	9069	.	GRCh37	7	90045099	90045099	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	84	36	111	0	ENST00000287916.4:c.*2374G>T			ENST00000287916	NM_001185073.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5618.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATGTGGATGTA	NONE	.	.	.	.	.	ENSP00000443476	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000535571	Transcript	.	.	ENSG00000157224	2034	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CLD12_HUMAN	CLDN12	HGNC	C9J841_HUMAN,C9J4P0_HUMAN,A8MX62_HUMAN	.	UPI000000165A	SNV	CLDN12,3_prime_UTR_variant,,ENST00000287916,;CLDN12,3_prime_UTR_variant,,ENST00000535571,;CLDN12,3_prime_UTR_variant,,ENST00000394605,;CLDN12,downstream_gene_variant,,ENST00000427904,;CLDN12,downstream_gene_variant,,ENST00000496677,;CLDN12,downstream_gene_variant,,ENST00000394604,;CLDN12,downstream_gene_variant,,ENST00000416322,;CLDN12,intron_variant,,ENST00000483862,;CLDN12,intron_variant,,ENST00000498033,;CLDN12,intron_variant,,ENST00000451941,;CTB-13L3.1,intron_variant,,ENST00000480135,;CLDN12,downstream_gene_variant,,ENST00000462636,;	3418	111	120	SUCCESS
FAM110B	90362	.	GRCh37	8	59060659	59060659	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs938229339	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	43	12	94	0	ENST00000361488.3:c.*757C>T			ENST00000361488	NM_147189.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6170.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTCGACAG	NONE	.	.	.	.	.	ENSP00000355204	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000361488	Transcript	.	.	ENSG00000169122	28587	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F110B_HUMAN	FAM110B	HGNC	.	.	UPI000006E853	SNV	FAM110B,3_prime_UTR_variant,,ENST00000361488,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,intron_variant,,ENST00000520369,;FAM110B,downstream_gene_variant,,ENST00000521413,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000519262,;	2750	94	56	SUCCESS
CLDN2	9075	.	GRCh37	X	106173306	106173307	+	3_prime_UTR_variant	3'UTR	INS	-	-	C	rs777233825	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	51	12	61	0	ENST00000336803.1:c.*1162dup			ENST00000336803	NM_020384.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14524.1	.	INDELOCATOR|VARSCANI	.	ATCAGGCCCCC	NONE	byCluster	.	.	.	.	ENSP00000441283	.	2/2	.	.	.	.	.	.	.	.	rs777233825	2/2	PASS	ENST00000541806	Transcript	.	.	ENSG00000165376	2041	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CLD2_HUMAN	CLDN2	HGNC	.	.	UPI0000001BF3	insertion	CLDN2,3_prime_UTR_variant,,ENST00000540876,;CLDN2,3_prime_UTR_variant,,ENST00000541806,;CLDN2,3_prime_UTR_variant,,ENST00000336803,;MORC4,intron_variant,,ENST00000604604,;	2367-2368	61	64	SUCCESS
MAGEB16	139604	.	GRCh37	X	35821626	35821626	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-UB-A7MF-01	TCGA-UB-A7MF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	23	71	93	0	ENST00000399985.1:c.*338T>A			ENST00000399985				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43927.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTAGTGGCAT	NONE	.	.	.	.	.	ENSP00000382871	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000399989	Transcript	.	.	ENSG00000189023	21188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGBG_HUMAN	MAGEB16	HGNC	.	.	UPI00006C1BC1	SNV	MAGEB16,3_prime_UTR_variant,,ENST00000399987,;MAGEB16,3_prime_UTR_variant,,ENST00000399992,;MAGEB16,3_prime_UTR_variant,,ENST00000399988,;MAGEB16,3_prime_UTR_variant,,ENST00000399985,;MAGEB16,3_prime_UTR_variant,,ENST00000399989,;	1592	93	94	SUCCESS
SORBS1	10580	.	GRCh37	10	97074612	97074612	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	15	14	32	0				ENST00000361941	NM_001034954.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS31255.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTTTTTGCTC	NONE	.	.	.	.	.	ENSP00000360293	.	33/33	.	.	.	.	.	.	.	.	.	33/33	PASS	ENST00000371247	Transcript	.	.	ENSG00000095637	14565	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SRBS1_HUMAN	SORBS1	HGNC	.	.	UPI000013D6B7	SNV	SORBS1,3_prime_UTR_variant,,ENST00000347291,;SORBS1,3_prime_UTR_variant,,ENST00000371247,;SORBS1,3_prime_UTR_variant,,ENST00000607232,;SORBS1,3_prime_UTR_variant,,ENST00000353505,;SORBS1,3_prime_UTR_variant,,ENST00000371227,;SORBS1,3_prime_UTR_variant,,ENST00000393949,;SORBS1,3_prime_UTR_variant,,ENST00000371249,;SORBS1,3_prime_UTR_variant,,ENST00000306402,;SORBS1,3_prime_UTR_variant,,ENST00000371246,;SORBS1,downstream_gene_variant,,ENST00000361941,;SORBS1,downstream_gene_variant,,ENST00000371239,;SORBS1,downstream_gene_variant,,ENST00000371241,;SORBS1,downstream_gene_variant,,ENST00000277982,;SORBS1,downstream_gene_variant,,ENST00000354106,;SORBS1,downstream_gene_variant,,ENST00000371245,;	4273	32	29	SUCCESS
NDUFC2	4718	.	GRCh37	11	77780754	77780755	+	3_prime_UTR_variant	3'UTR	DEL	TT	TT	-	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	TT	TT	.	.	.	.	.	.	.	.	.	.	.	.	.	24	13	29	0	ENST00000281031.4:c.*278_*279del			ENST00000281031	NM_004549.5			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS8257.1	.	INDELOCATOR*|PINDEL	.	TGAGACTTTATTG	NONE	.	.	.	.	.	ENSP00000281031	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000281031	Transcript	.	.	ENSG00000151366	7706	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NDUC2_HUMAN	NDUFC2	HGNC	.	.	UPI000012FC27	deletion	NDUFC2,3_prime_UTR_variant,,ENST00000281031,;NDUFC2,3_prime_UTR_variant,,ENST00000527806,;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2-KCTD14,intron_variant,,ENST00000530054,;NDUFC2,downstream_gene_variant,,ENST00000534029,;NDUFC2,downstream_gene_variant,,ENST00000528164,;THRSP,downstream_gene_variant,,ENST00000281030,;NDUFC2,downstream_gene_variant,,ENST00000525085,;	1113-1114	29	37	SUCCESS
SYT4	6860	.	GRCh37	18	40850226	40850226	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	12	46	0	ENST00000255224.3:c.*80C>T			ENST00000255224	NM_020783.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11922.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAAGCTTGC	NONE	.	.	.	.	.	ENSP00000255224	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000255224	Transcript	.	.	ENSG00000132872	11512	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SYT4_HUMAN	SYT4	HGNC	M0QZF3_HUMAN,B4DMA9_HUMAN	.	UPI000013669E	SNV	SYT4,3_prime_UTR_variant,,ENST00000255224,;SYT4,3_prime_UTR_variant,,ENST00000590752,;SYT4,downstream_gene_variant,,ENST00000596867,;SYT4,downstream_gene_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000586678,;SYT4,non_coding_transcript_exon_variant,,ENST00000585604,;SYT4,downstream_gene_variant,,ENST00000591820,;SYT4,downstream_gene_variant,,ENST00000589479,;	1727	46	32	SUCCESS
CYYR1	116159	.	GRCh37	21	27840794	27840794	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs762954770	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	36	15	55	0	ENST00000299340.4:c.*26C>G			ENST00000299340	NM_052954.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13578.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTGGCACAT	NONE	.	.	.	.	.	ENSP00000299340	.	4/4	.	.	.	.	.	.	.	.	rs762954770	4/4	PASS	ENST00000299340	Transcript	.	.	ENSG00000166265	16274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CYYR1_HUMAN	CYYR1	HGNC	.	.	UPI0000128D80	SNV	CYYR1,3_prime_UTR_variant,,ENST00000435845,;CYYR1,3_prime_UTR_variant,,ENST00000299340,;AP001596.6,intron_variant,,ENST00000444306,;AP001596.6,intron_variant,,ENST00000421771,;AP001597.1,intron_variant,,ENST00000357401,;AP001597.1,intron_variant,,ENST00000414486,;AP001596.6,intron_variant,,ENST00000429340,;	835	55	51	SUCCESS
CREB1	1385	.	GRCh37	2	208461906	208461906	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	22	14	38	0	ENST00000432329.2:c.*124A>C			ENST00000432329	NM_134442.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS2375.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGAAAGCAAC	NONE	.	.	.	.	.	ENSP00000387699	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000432329	Transcript	.	.	ENSG00000118260	2345	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CREB1_HUMAN	CREB1	HGNC	Q5U0J5_HUMAN,Q53RU9_HUMAN,Q4ZG78_HUMAN,E7EWP8_HUMAN,C9JCI4_HUMAN,C9J4L5_HUMAN,C9J276_HUMAN	.	UPI000012841D	SNV	CREB1,3_prime_UTR_variant,,ENST00000353267,;CREB1,3_prime_UTR_variant,,ENST00000430624,;CREB1,3_prime_UTR_variant,,ENST00000374397,;CREB1,3_prime_UTR_variant,,ENST00000432329,;METTL21A,intron_variant,,ENST00000425132,;METTL21A,intron_variant,,ENST00000458426,;METTL21A,intron_variant,,ENST00000432416,;CREB1,downstream_gene_variant,,ENST00000448277,;CREB1,non_coding_transcript_exon_variant,,ENST00000494983,;CREB1,non_coding_transcript_exon_variant,,ENST00000446449,;CREB1,upstream_gene_variant,,ENST00000451164,;CREB1,downstream_gene_variant,,ENST00000418081,;	1401	38	37	SUCCESS
GPR35	2859	.	GRCh37	2	241570327	241570327	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs774146102	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	41	31	83	0	ENST00000319838.5:c.*28G>T			ENST00000319838	NM_001195381.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56174.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGGTCTC	NONE	.	.	.	.	.	ENSP00000415890	.	6/6	.	.	.	.	.	.	.	.	rs774146102	6/6	PASS	ENST00000438013	Transcript	.	.	ENSG00000178623	4492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GPR35_HUMAN	GPR35	HGNC	.	.	UPI0000E6291C	SNV	GPR35,3_prime_UTR_variant,,ENST00000430267,;GPR35,3_prime_UTR_variant,,ENST00000438013,;GPR35,3_prime_UTR_variant,,ENST00000319838,;GPR35,3_prime_UTR_variant,,ENST00000403859,;GPR35,downstream_gene_variant,,ENST00000407714,;	1772	83	73	SUCCESS
SNRNP48	154007	.	GRCh37	6	7609147	7609147	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	351	96	293	1	ENST00000342415.5:c.*41A>G			ENST00000342415	NM_152551.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4502.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCATGATAACC	NONE	.	.	.	.	.	ENSP00000339834	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000342415	Transcript	.	.	ENSG00000168566	21368	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SNR48_HUMAN	SNRNP48	HGNC	.	.	UPI000020E4AD	SNV	SNRNP48,3_prime_UTR_variant,,ENST00000342415,;SNRNP48,non_coding_transcript_exon_variant,,ENST00000496946,;	1120	294	448	SUCCESS
ACTL6B	51412	.	GRCh37	7	100239194	100239194	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	60	23	93	0				ENST00000160382	NM_016188.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34707.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTTTGTGGGAG	NONE	.	.	.	.	.	ENSP00000420525	.	2/19	.	.	.	.	.	.	.	.	.	2/19	PASS	ENST00000462107	Transcript	.	.	ENSG00000106327	11762	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TFR2_HUMAN	TFR2	HGNC	.	.	UPI0000136C99	SNV	TFR2,5_prime_UTR_variant,,ENST00000462107,;ACTL6B,downstream_gene_variant,,ENST00000160382,;TFR2,upstream_gene_variant,,ENST00000223051,;TFR2,upstream_gene_variant,,ENST00000431692,;TFR2,non_coding_transcript_exon_variant,,ENST00000474947,;TFR2,upstream_gene_variant,,ENST00000465294,;ACTL6B,downstream_gene_variant,,ENST00000487125,;	227	93	83	SUCCESS
RPS20	6224	.	GRCh37	8	56982283	56982285	+	downstream_gene_variant	3'Flank	DEL	GGA	GGA	-	rs555452545	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	GGA	GGA	.	.	.	.	.	.	.	.	.	.	.	.	.	118	16	112	0				ENST00000009589	NM_001023.3			0	.	-:0	.	-:0	.	-	.	protein_coding	YES	CCDS55231.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TTTGGCGGAGGAGA	NONE	byFrequency|byCluster|by1000G	.	.	-:0.003	.	ENSP00000429374	-:0	5/6	.	.	.	.	.	.	.	.	rs555452545	5/6	PASS	ENST00000519807	Transcript	1	-:0.0006	ENSG00000008988	10405	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	-:0	.	.	RS20_HUMAN	RPS20	HGNC	.	.	UPI000022D6C1	deletion	RPS20,3_prime_UTR_variant,,ENST00000519807,;RPS20,downstream_gene_variant,,ENST00000523936,;RPS20,downstream_gene_variant,,ENST00000521262,;RPS20,downstream_gene_variant,,ENST00000518875,;RPS20,downstream_gene_variant,,ENST00000009589,;RPS20,downstream_gene_variant,,ENST00000524349,;RPS20,downstream_gene_variant,,ENST00000520627,;RPS20,downstream_gene_variant,,ENST00000519606,;SNORD54,downstream_gene_variant,,ENST00000459159,;CTA-397H3.3,upstream_gene_variant,,ENST00000521403,;RPS20,downstream_gene_variant,,ENST00000520490,;RPS20,downstream_gene_variant,,ENST00000519369,;RPS20,downstream_gene_variant,,ENST00000521289,;	567-569	112	134	SUCCESS
TPD52L3	89882	.	GRCh37	9	6329443	6329443	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs778931598	.	TCGA-UB-AA0U-01	TCGA-UB-AA0U-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	76	19	130	1	ENST00000344545.5:c.*425G>C			ENST00000344545	NM_033516.5			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34986.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCAAGTCAGT	NONE	.	.	.	.	.	ENSP00000341677	.	1/1	.	.	.	.	.	.	.	.	rs778931598	1/1	PASS	ENST00000344545	Transcript	.	.	ENSG00000170777	23382	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TPD55_HUMAN	TPD52L3	HGNC	.	.	UPI0000367601	SNV	TPD52L3,3_prime_UTR_variant,,ENST00000344545,;TPD52L3,intron_variant,,ENST00000314556,;TPD52L3,intron_variant,,ENST00000381428,;	1095	131	96	SUCCESS
ZNF407	55628	.	GRCh37	18	72776606	72776606	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	7	4	11	0	ENST00000299687.5:c.*182A>G			ENST00000299687	NM_017757.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45885.1	.	RADIA|MUTECT|MUSE	.	AGGGTACCGTG	NONE	.	.	.	.	.	ENSP00000299687	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000299687	Transcript	.	.	ENSG00000215421	19904	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN407_HUMAN	ZNF407	HGNC	.	.	UPI0000F58ED1	SNV	ZNF407,3_prime_UTR_variant,,ENST00000299687,;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	6929	11	11	SUCCESS
ZNF878	729747	.	GRCh37	19	12164054	12164054	+	upstream_gene_variant	5'Flank	SNP	G	G	A	rs776104175	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	32	6	54	0				ENST00000547628	NM_001080404.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45984.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCGTGGGCCGT	NONE	.	300	.	.	.	ENSP00000447931	.	.	.	.	.	.	.	.	.	.	rs776104175	.	PASS	ENST00000547628	Transcript	.	.	ENSG00000257446	37246	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZN878_HUMAN	ZNF878	HGNC	.	.	UPI00001D8268	SNV	ZNF878,synonymous_variant,p.%3D,ENST00000602107,;ZNF878,upstream_gene_variant,,ENST00000547628,;CTD-2006C1.10,upstream_gene_variant,,ENST00000547473,;	.	54	38	SUCCESS
ZNF799	90576	.	GRCh37	19	12500983	12500983	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs916126989	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	4	17	0	ENST00000430385.3:c.*297G>A			ENST00000430385	NM_001080821.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS45989.1	.	RADIA|MUTECT|VARSCANS	.	TTTTACAATGC	NONE	.	.	.	.	.	ENSP00000411084	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000430385	Transcript	.	.	ENSG00000196466	28071	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN799_HUMAN	ZNF799	HGNC	M0R135_HUMAN,D3YTF2_HUMAN	.	UPI000016184E	SNV	ZNF799,3_prime_UTR_variant,,ENST00000419318,;ZNF799,3_prime_UTR_variant,,ENST00000430385,;CTD-3105H18.16,downstream_gene_variant,,ENST00000595562,;ZNF799,downstream_gene_variant,,ENST00000595766,;ZNF799,non_coding_transcript_exon_variant,,ENST00000460935,;CTD-3105H18.14,intron_variant,,ENST00000435033,;	2430	17	17	SUCCESS
TBC1D23	55773	.	GRCh37	3	100042712	100042712	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	34	5	57	0	ENST00000394144.4:c.*200T>G			ENST00000394144	NM_001199198.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS56265.1	.	MUTECT|MUSE|VARSCANS	.	TTTTATAAAAT	NONE	.	.	.	.	.	ENSP00000377700	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000394144	Transcript	.	.	ENSG00000036054	25622	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TBC23_HUMAN	TBC1D23	HGNC	B3KS68_HUMAN	.	UPI000013D5E5	SNV	TBC1D23,3_prime_UTR_variant,,ENST00000344949,;TBC1D23,3_prime_UTR_variant,,ENST00000394144,;TBC1D23,downstream_gene_variant,,ENST00000475134,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000471273,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000486274,;	2307	57	40	SUCCESS
C5orf34	375444	.	GRCh37	5	43486895	43486895	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs531304003	.	TCGA-UB-AA0V-01	TCGA-UB-AA0V-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	4	77	0	ENST00000306862.2:c.*122C>A			ENST00000306862	NM_198566.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3946.1	.	MUTECT|MUSE	.	TGTCAGTTCTT	NONE	.	.	.	.	.	ENSP00000303490	.	13/13	.	.	.	.	.	.	.	.	rs531304003	13/13	PASS	ENST00000306862	Transcript	.	.	ENSG00000172244	24738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE034_HUMAN	C5orf34	HGNC	E9PBC3_HUMAN,B4E0D7_HUMAN	.	UPI000013EB9E	SNV	C5orf34,3_prime_UTR_variant,,ENST00000306862,;C5orf28,upstream_gene_variant,,ENST00000397080,;C5orf28,upstream_gene_variant,,ENST00000500337,;C5orf28,upstream_gene_variant,,ENST00000510130,;C5orf28,upstream_gene_variant,,ENST00000506860,;C5orf28,upstream_gene_variant,,ENST00000512085,;RP11-159F24.3,intron_variant,,ENST00000505645,;C5orf28,upstream_gene_variant,,ENST00000511525,;RP11-159F24.3,intron_variant,,ENST00000504469,;C5orf34,downstream_gene_variant,,ENST00000506213,;	2415	77	60	SUCCESS
KAZALD1	81621	.	GRCh37	10	102827879	102827879	+	downstream_gene_variant	3'Flank	DEL	G	G	-	rs1564659480	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	38	15	34	0				ENST00000370200	NM_030929.4			0	.	T:0	.	T:0	.	-	.	protein_coding	YES	CCDS7509.1	.	INDELOCATOR*|PINDEL	.	AAAAAAGATGCT	NONE	byFrequency|by1000G	2530	.	T:0.002	.	ENSP00000359219	T:0	.	.	.	.	.	.	.	.	.	rs141201209	.	PASS	ENST00000370200	Transcript	.	T:0.0004	ENSG00000107821	25460	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	KAZD1_HUMAN	KAZALD1	HGNC	.	.	UPI000004283E	deletion	KAZALD1,downstream_gene_variant,,ENST00000370200,;KAZALD1,non_coding_transcript_exon_variant,,ENST00000465807,;KAZALD1,downstream_gene_variant,,ENST00000477979,;KAZALD1,downstream_gene_variant,,ENST00000470106,;KAZALD1,downstream_gene_variant,,ENST00000608812,;KAZALD1,downstream_gene_variant,,ENST00000477267,;	.	34	53	SUCCESS
PDGFD	80310	.	GRCh37	11	103780421	103780421	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs758733838	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	46	49	75	0	ENST00000393158.2:c.*1G>T			ENST00000393158				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41703.1	.	RADIA|MUTECT|MUSE	.	ATTCTCTTATC	NONE	.	.	.	.	.	ENSP00000376865	.	7/7	.	.	.	.	.	.	.	.	rs758733838	7/7	PASS	ENST00000393158	Transcript	.	.	ENSG00000170962	30620	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PDGFD_HUMAN	PDGFD	HGNC	.	.	UPI0000034811	SNV	PDGFD,3_prime_UTR_variant,,ENST00000302251,;PDGFD,3_prime_UTR_variant,,ENST00000393158,;	1294	75	95	SUCCESS
MUC19	283463	.	GRCh37	12	40963607	40963607	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	67	30	72	0	ENST00000454784.4:c.*7704+1G>C			ENST00000454784				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCCAAGTGAGT	NONE	.	.	.	.	.	ENSP00000476404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	HIGH	83/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,splice_donor_variant,,ENST00000454784,;MUC19,splice_donor_variant,,ENST00000427572,;MUC19,splice_donor_variant,,ENST00000460785,;MUC19,splice_donor_variant,,ENST00000380816,;MUC19,splice_donor_variant,,ENST00000546043,;	.	72	97	SUCCESS
WDR20	91833	.	GRCh37	14	102689293	102689293	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs999340172	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	19	32	0	ENST00000335263.5:c.*73C>T			ENST00000335263	NM_181291.2			0	.	.	.	.	.	T	.	protein_coding	.	CCDS55945.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTGCGCCTG	NONE	.	.	.	.	.	ENSP00000450636	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000556807	Transcript	.	.	ENSG00000140153	19667	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	WDR20_HUMAN	WDR20	HGNC	H0YNU0_HUMAN	.	UPI00016398CC	SNV	WDR20,3_prime_UTR_variant,,ENST00000556807,;WDR20,3_prime_UTR_variant,,ENST00000335263,;WDR20,intron_variant,,ENST00000559478,;MOK,downstream_gene_variant,,ENST00000559838,;MOK,downstream_gene_variant,,ENST00000193029,;MOK,downstream_gene_variant,,ENST00000561150,;MOK,downstream_gene_variant,,ENST00000557823,;MOK,downstream_gene_variant,,ENST00000559512,;WDR20,3_prime_UTR_variant,,ENST00000556094,;MOK,downstream_gene_variant,,ENST00000559138,;	1667	32	39	SUCCESS
EIF5	1983	.	GRCh37	14	103807517	103807517	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs909289770	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	12	0	ENST00000216554.3:c.*128C>A			ENST00000216554	NM_001969.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9980.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCTATTA	NONE	.	.	.	.	.	ENSP00000216554	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000216554	Transcript	.	.	ENSG00000100664	3299	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IF5_HUMAN	EIF5	HGNC	H0YN40_HUMAN,H0YMJ8_HUMAN,H0YM54_HUMAN,H0YLZ1_HUMAN,H0YK29_HUMAN,H0YK11_HUMAN	.	UPI000012D3A5	SNV	EIF5,3_prime_UTR_variant,,ENST00000216554,;EIF5,3_prime_UTR_variant,,ENST00000392715,;EIF5,3_prime_UTR_variant,,ENST00000558506,;EIF5,downstream_gene_variant,,ENST00000560338,;EIF5,downstream_gene_variant,,ENST00000558265,;EIF5,downstream_gene_variant,,ENST00000561325,;EIF5,downstream_gene_variant,,ENST00000559532,;EIF5,downstream_gene_variant,,ENST00000558316,;EIF5,downstream_gene_variant,,ENST00000559130,;SNORA28,downstream_gene_variant,,ENST00000606769,;EIF5,intron_variant,,ENST00000561406,;EIF5,downstream_gene_variant,,ENST00000560200,;EIF5,non_coding_transcript_exon_variant,,ENST00000558800,;EIF5,downstream_gene_variant,,ENST00000558551,;EIF5,downstream_gene_variant,,ENST00000561023,;EIF5,downstream_gene_variant,,ENST00000559923,;EIF5,downstream_gene_variant,,ENST00000561439,;EIF5,downstream_gene_variant,,ENST00000559011,;EIF5,downstream_gene_variant,,ENST00000561380,;	2100	12	20	SUCCESS
TAT	6898	.	GRCh37	16	71602012	71602012	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	47	0	ENST00000355962.4:c.*35T>A			ENST00000355962	NM_000353.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10903.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCCCTAGATGG	NONE	.	.	.	.	.	ENSP00000348234	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	SNV	TAT,3_prime_UTR_variant,,ENST00000355962,;ZNF19,upstream_gene_variant,,ENST00000566202,;RNU6-1061P,upstream_gene_variant,,ENST00000516530,;RP11-432I5.1,intron_variant,,ENST00000561529,;ZNF19,upstream_gene_variant,,ENST00000568446,;TAT,non_coding_transcript_exon_variant,,ENST00000564007,;	1534	47	44	SUCCESS
ZNF17	7565	.	GRCh37	19	57933076	57933076	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	14	4	10	0	ENST00000601808.1:c.*227A>G			ENST00000601808	NM_006959.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42636.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTTTTAAAACC	NONE	.	.	.	.	.	ENSP00000471905	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000601808	Transcript	.	.	ENSG00000186272	12958	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF17_HUMAN	ZNF17	HGNC	.	.	UPI00001D8198	SNV	ZNF17,3_prime_UTR_variant,,ENST00000307658,;ZNF17,3_prime_UTR_variant,,ENST00000601808,;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596400,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,downstream_gene_variant,,ENST00000595206,;ZNF17,downstream_gene_variant,,ENST00000599867,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;ZNF17,downstream_gene_variant,,ENST00000595162,;	2429	10	18	SUCCESS
AVPR1B	553	.	GRCh37	1	206231357	206231357	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	20	7	22	0	ENST00000367126.4:c.*215C>A			ENST00000367126	NM_000707.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS30994.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTGGCAGTCA	NONE	.	.	.	.	.	ENSP00000356094	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000367126	Transcript	.	.	ENSG00000198049	896	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	V1BR_HUMAN	AVPR1B	HGNC	.	.	UPI000005043A	SNV	AVPR1B,3_prime_UTR_variant,,ENST00000367126,;	1955	22	28	SUCCESS
HNRNPU	3192	.	GRCh37	1	245027784	245027784	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	13	27	0				ENST00000283179				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41479.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCCTTTCACCG	NONE	.	11	.	.	.	ENSP00000283179	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000283179	Transcript	.	.	ENSG00000153187	5048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HNRPU_HUMAN	HNRNPU	HGNC	Q9UEL2_HUMAN,Q96BA7_HUMAN,Q7Z4Q5_HUMAN	.	UPI000040E1C8	SNV	HNRNPU,5_prime_UTR_variant,,ENST00000444376,;HNRNPU,upstream_gene_variant,,ENST00000440865,;HNRNPU,upstream_gene_variant,,ENST00000283179,;RP11-11N7.4,upstream_gene_variant,,ENST00000610145,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000483966,;HNRNPU,upstream_gene_variant,,ENST00000366525,;	.	27	32	SUCCESS
FZD7	8324	.	GRCh37	2	202902322	202902322	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	166	149	322	0	ENST00000286201.1:c.*1227C>T			ENST00000286201	NM_003507.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2351.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCTCCCATTTG	NONE	.	.	.	.	.	ENSP00000286201	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000286201	Transcript	.	.	ENSG00000155760	4045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FZD7_HUMAN	FZD7	HGNC	.	.	UPI0000051051	SNV	FZD7,3_prime_UTR_variant,,ENST00000286201,;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	3013	322	315	SUCCESS
RP11-554J4.1	0	.	GRCh37	2	55844522	55844522	+	upstream_gene_variant	5'Flank	SNP	C	C	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	18	0				ENST00000608113				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46289.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	GGCGGCGGCGG	NONE	.	.	.	.	.	ENSP00000339769	.	1/17	.	.	.	.	.	.	.	.	.	1/17	PASS	ENST00000345102	Transcript	.	.	ENSG00000138041	29267	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	P4R3B_HUMAN	SMEK2	HGNC	.	.	UPI00001C1DBA	SNV	SMEK2,5_prime_UTR_variant,,ENST00000345102,;SMEK2,5_prime_UTR_variant,,ENST00000272313,;SMEK2,5_prime_UTR_variant,,ENST00000407823,;RP11-554J4.1,upstream_gene_variant,,ENST00000608113,;SMEK2,non_coding_transcript_exon_variant,,ENST00000477749,;SMEK2,upstream_gene_variant,,ENST00000470801,;	202	18	17	SUCCESS
FAM43A	131583	.	GRCh37	3	194409471	194409471	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	70	38	71	0	ENST00000329759.4:c.*644G>T			ENST00000329759	NM_153690.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33923.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGGAGTTT	NONE	.	.	.	.	.	ENSP00000371397	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329759	Transcript	.	.	ENSG00000185112	26888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA43A_HUMAN	FAM43A	HGNC	.	.	UPI0000074368	SNV	FAM43A,3_prime_UTR_variant,,ENST00000329759,;	2850	71	109	SUCCESS
FBXW7	55294	.	GRCh37	4	153243810	153243810	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	16	0	ENST00000281708.4:c.*223A>G			ENST00000281708	NM_033632.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3777.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTATGTGAT	NONE	.	.	.	.	.	ENSP00000281708	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000281708	Transcript	.	.	ENSG00000109670	16712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FBXW7_HUMAN	FBXW7	HGNC	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN	.	UPI000007007E	SNV	FBXW7,3_prime_UTR_variant,,ENST00000603548,;FBXW7,3_prime_UTR_variant,,ENST00000263981,;FBXW7,3_prime_UTR_variant,,ENST00000296555,;FBXW7,3_prime_UTR_variant,,ENST00000281708,;FBXW7,downstream_gene_variant,,ENST00000393956,;FBXW7,downstream_gene_variant,,ENST00000603841,;RP11-461L13.3,upstream_gene_variant,,ENST00000603766,;RP11-461L13.5,upstream_gene_variant,,ENST00000605407,;FBXW7,downstream_gene_variant,,ENST00000604316,;FBXW7,downstream_gene_variant,,ENST00000604069,;FBXW7,downstream_gene_variant,,ENST00000603821,;	3577	16	16	SUCCESS
BTN2A1	11120	.	GRCh37	6	26468992	26468992	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	16	0	ENST00000312541.5:c.*215G>T			ENST00000312541	NM_007049.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4613.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTATGGGATGG	NONE	.	.	.	.	.	ENSP00000312158	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000312541	Transcript	.	.	ENSG00000112763	1136	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT2A1_HUMAN	BTN2A1	HGNC	C9JNC3_HUMAN	.	UPI00000480E9	SNV	BTN2A1,3_prime_UTR_variant,,ENST00000429381,;BTN2A1,3_prime_UTR_variant,,ENST00000312541,;BTN2A1,intron_variant,,ENST00000480218,;BTN2A1,intron_variant,,ENST00000469185,;BTN2A1,downstream_gene_variant,,ENST00000541522,;BTN2A1,3_prime_UTR_variant,,ENST00000377600,;	2047	16	16	SUCCESS
TAP2	6891	.	GRCh37	6	32789799	32789799	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	32	22	48	0	ENST00000374899.4:c.*267T>C			ENST00000374899	NM_018833.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4755.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGTCCAAAGCA	NONE	.	.	.	.	.	ENSP00000364034	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000374899	Transcript	.	.	ENSG00000204267	44	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAP2_HUMAN	TAP2	HGNC	Q9UP03_HUMAN,B6VNV2_HUMAN	.	UPI000006E66B	SNV	TAP2,3_prime_UTR_variant,,ENST00000374899,;TAP2,intron_variant,,ENST00000452392,;HLA-DOB,upstream_gene_variant,,ENST00000438763,;TAP2,downstream_gene_variant,,ENST00000374897,;	2308	48	54	SUCCESS
EXOC2	55770	.	GRCh37	6	486627	486627	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs772973258	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	14	41	0	ENST00000230449.4:c.*44A>T			ENST00000230449	NM_018303.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34327.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGTCTTATTA	NONE	byFrequency	.	.	.	.	ENSP00000230449	.	28/28	.	.	.	.	.	.	.	.	rs772973258	28/28	PASS	ENST00000230449	Transcript	.	.	ENSG00000112685	24968	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EXOC2_HUMAN	EXOC2	HGNC	Q2MDF5_HUMAN,G8JLK9_HUMAN	.	UPI000003E7E3	SNV	EXOC2,3_prime_UTR_variant,,ENST00000230449,;EXOC2,3_prime_UTR_variant,,ENST00000448181,;	2955	41	51	SUCCESS
KLHL32	114792	.	GRCh37	6	97587213	97587213	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	13	47	1	ENST00000369261.4:c.*55G>T			ENST00000369261	NM_052904.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5038.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	TACTGGGCATG	NONE	.	.	.	.	.	ENSP00000358265	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000369261	Transcript	.	.	ENSG00000186231	21221	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KLH32_HUMAN	KLHL32	HGNC	.	.	UPI000020DFAB	SNV	KLHL32,3_prime_UTR_variant,,ENST00000539200,;KLHL32,3_prime_UTR_variant,,ENST00000544166,;KLHL32,3_prime_UTR_variant,,ENST00000536676,;KLHL32,3_prime_UTR_variant,,ENST00000369261,;MMS22L,downstream_gene_variant,,ENST00000275053,;	2281	48	27	SUCCESS
PCLO	27445	.	GRCh37	7	82387797	82387797	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs190701568	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	11	0	ENST00000333891.9:c.*94G>A			ENST00000333891	NM_033026.5			0	.	A:0.0038	.	A:0	.	T	.	protein_coding	YES	CCDS47630.1	.	MUTECT|MUSE	.	TTTGCCTCTCA	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000334319	A:0	25/25	.	.	.	.	.	.	.	.	rs190701568	25/25	PASS	ENST00000333891	Transcript	.	A:0.0010	ENSG00000186472	13406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	PCLO_HUMAN	PCLO	HGNC	.	.	UPI0001573469	SNV	PCLO,3_prime_UTR_variant,,ENST00000333891,;	15861	11	11	SUCCESS
CDKN2A	1029	.	GRCh37	9	21968150	21968150	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	41	0	ENST00000304494.5:c.*78C>A			ENST00000304494	NM_000077.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56565.1	.	MUTECT|MUSE	.	GCGGGGGCAGT	NONE	.	.	.	.	.	ENSP00000418915	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000498124	Transcript	.	.	ENSG00000147889	1787	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CD2A1_HUMAN	CDKN2A	HGNC	Q9UPB7_HUMAN	.	UPI0001565711	SNV	CDKN2A,3_prime_UTR_variant,,ENST00000578845,;CDKN2A,3_prime_UTR_variant,,ENST00000579755,;CDKN2A,3_prime_UTR_variant,,ENST00000498628,;CDKN2A,3_prime_UTR_variant,,ENST00000530628,;CDKN2A,3_prime_UTR_variant,,ENST00000304494,;CDKN2A,3_prime_UTR_variant,,ENST00000361570,;CDKN2A,3_prime_UTR_variant,,ENST00000498124,;CDKN2A,3_prime_UTR_variant,,ENST00000579122,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,downstream_gene_variant,,ENST00000494262,;CDKN2A,downstream_gene_variant,,ENST00000446177,;CDKN2A,downstream_gene_variant,,ENST00000479692,;CDKN2A,downstream_gene_variant,,ENST00000497750,;CDKN2A,downstream_gene_variant,,ENST00000380150,;CDKN2A,downstream_gene_variant,,ENST00000577854,;RP11-145E5.5,intron_variant,,ENST00000404796,;CDKN2A,downstream_gene_variant,,ENST00000380151,;	785	42	37	SUCCESS
ZBTB33	10009	.	GRCh37	X	119389946	119389946	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WJ-A86L-01	TCGA-WJ-A86L-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	64	45	129	0	ENST00000326624.2:c.*657G>T			ENST00000326624	NM_006777.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14596.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTGGCTAGA	NONE	.	.	.	.	.	ENSP00000314153	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000326624	Transcript	.	.	ENSG00000177485	16682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KAISO_HUMAN	ZBTB33	HGNC	.	.	UPI0000072F87	SNV	ZBTB33,3_prime_UTR_variant,,ENST00000326624,;TMEM255A,downstream_gene_variant,,ENST00000371369,;TMEM255A,downstream_gene_variant,,ENST00000440464,;TMEM255A,downstream_gene_variant,,ENST00000371352,;TMEM255A,downstream_gene_variant,,ENST00000309720,;ZBTB33,downstream_gene_variant,,ENST00000557385,;	2904	129	110	SUCCESS
PKD2L1	9033	.	GRCh37	10	102048145	102048145	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	17	58	0	ENST00000318222.3:c.*8G>A			ENST00000318222	NM_016112.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7492.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAGTGCCTCAC	NONE	.	.	.	.	.	ENSP00000325296	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000318222	Transcript	.	.	ENSG00000107593	9011	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PK2L1_HUMAN	PKD2L1	HGNC	.	.	UPI0000130FED	SNV	PKD2L1,3_prime_UTR_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000353274,;PKD2L1,3_prime_UTR_variant,,ENST00000338519,;PKD2L1,3_prime_UTR_variant,,ENST00000318222,;BLOC1S2,upstream_gene_variant,,ENST00000370372,;BLOC1S2,upstream_gene_variant,,ENST00000579542,;BLOC1S2,upstream_gene_variant,,ENST00000441611,;BLOC1S2,upstream_gene_variant,,ENST00000361832,;PKD2L1,downstream_gene_variant,,ENST00000528248,;	2809	58	49	SUCCESS
FUOM	282969	.	GRCh37	10	135168879	135168879	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	.	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	25	17	64	0	ENST00000278025.4:c.*124C>A			ENST00000278025	NM_198472.2	154		0	.	.	.	.	.	T	L/M	protein_coding	YES	CCDS44499.1	460	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTACAGCAGGG	NONE	.	.	hmmpanther:PTHR31690,hmmpanther:PTHR31690:SF4	.	.	ENSP00000357540	.	6/6	.	.	.	.	.	.	.	.	COSM916500	6/6	PASS	ENST00000368552	Transcript	.	.	ENSG00000148803	24733	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	benign(0.341)	.	tolerated_low_confidence(0.09)	1	FUCM_HUMAN	FUOM	HGNC	.	.	UPI00001D7FDE	SNV	FUOM,missense_variant,p.Leu154Met,ENST00000368552,;FUOM,missense_variant,p.Leu109Met,ENST00000368551,;FUOM,missense_variant,p.Leu110Met,ENST00000447176,;FUOM,3_prime_UTR_variant,,ENST00000278025,;PRAP1,downstream_gene_variant,,ENST00000458230,;PRAP1,downstream_gene_variant,,ENST00000433452,;PRAP1,downstream_gene_variant,,ENST00000423766,;ZNF511,downstream_gene_variant,,ENST00000368554,;RP11-122K13.7,upstream_gene_variant,,ENST00000452591,;FUOM,non_coding_transcript_exon_variant,,ENST00000465384,;FUOM,downstream_gene_variant,,ENST00000478895,;PRAP1,downstream_gene_variant,,ENST00000463201,;	478	64	42	SUCCESS
PRKG1	5592	.	GRCh37	10	54053815	54053815	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	3	17	0	ENST00000373985.1:c.*155T>C			ENST00000373985	NM_001098512.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7244.1	.	MUTECT|MUSE	.	GGACTTACCGC	NONE	.	.	.	.	.	ENSP00000363092	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000373980	Transcript	1	.	ENSG00000185532	9414	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KGP1_HUMAN	PRKG1	HGNC	.	.	UPI000012DDCD	SNV	PRKG1,3_prime_UTR_variant,,ENST00000401604,;PRKG1,3_prime_UTR_variant,,ENST00000373975,;PRKG1,3_prime_UTR_variant,,ENST00000373985,;PRKG1,3_prime_UTR_variant,,ENST00000373980,;PRKG1-AS1,intron_variant,,ENST00000452247,;PRKG1-AS1,intron_variant,,ENST00000426785,;	2633	17	9	SUCCESS
ADO	84890	.	GRCh37	10	64566156	64566156	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	11	91	1	ENST00000373783.1:c.*524G>A			ENST00000373783	NM_032804.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7266.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCTGGCCTGC	NONE	.	.	.	.	.	ENSP00000362888	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373783	Transcript	.	.	ENSG00000181915	23506	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	AEDO_HUMAN	ADO	HGNC	.	.	UPI00001F8D78	SNV	ADO,3_prime_UTR_variant,,ENST00000373783,;RP11-436D10.3,upstream_gene_variant,,ENST00000425290,;	1641	92	73	SUCCESS
DCPS	28960	.	GRCh37	11	126215565	126215566	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs981227496	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	26	7	36	0	ENST00000263579.4:c.*63dup			ENST00000263579	NM_014026.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8473.1	.	INDELOCATOR*|PINDEL	.	ACAAGATTTTT	NONE	.	.	.	.	.	ENSP00000263579	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000263579	Transcript	.	.	ENSG00000110063	29812	6	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DCPS_HUMAN	DCPS	HGNC	.	.	UPI000006F1CC	insertion	DCPS,3_prime_UTR_variant,,ENST00000263579,;DCPS,non_coding_transcript_exon_variant,,ENST00000530860,;DCPS,non_coding_transcript_exon_variant,,ENST00000529149,;	1400-1401	36	33	SUCCESS
KRTAP5-5	439915	.	GRCh37	11	1651810	1651810	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs750042893	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	82	12	78	0	ENST00000399676.2:c.*26C>T			ENST00000399676	NM_001001480.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41592.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGTGGCCTGAC	NONE	.	.	.	.	.	ENSP00000382584	.	1/1	.	.	.	.	.	.	.	.	rs750042893	1/1	PASS	ENST00000399676	Transcript	.	.	ENSG00000185940	23601	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	KRA55_HUMAN	KRTAP5-5	HGNC	.	.	UPI0000E592E5	SNV	KRTAP5-5,3_prime_UTR_variant,,ENST00000399676,;	778	78	94	SUCCESS
FIBIN	387758	.	GRCh37	11	27018393	27018393	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	86	28	127	0	ENST00000318627.2:c.*1684A>T			ENST00000318627	NM_203371.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7861.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTAATTTTT	NONE	.	.	.	.	.	ENSP00000321962	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318627	Transcript	.	.	ENSG00000176971	33747	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FIBIN_HUMAN	FIBIN	HGNC	.	.	UPI000003B0F4	SNV	FIBIN,3_prime_UTR_variant,,ENST00000318627,;	2766	127	114	SUCCESS
FIBIN	387758	.	GRCh37	11	27018578	27018579	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs1056977976	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	125	34	127	0	ENST00000318627.2:c.*1875dup			ENST00000318627	NM_203371.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7861.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ATTCTGAAAAA	NONE	.	.	.	.	.	ENSP00000321962	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000318627	Transcript	.	.	ENSG00000176971	33747	6	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	FIBIN_HUMAN	FIBIN	HGNC	.	.	UPI000003B0F4	insertion	FIBIN,3_prime_UTR_variant,,ENST00000318627,;	2951-2952	127	159	SUCCESS
SLC22A11	55867	.	GRCh37	11	64338765	64338765	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	10	0	ENST00000301891.4:c.*251C>T			ENST00000301891	NM_018484.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8074.1	.	MUTECT|MUSE	.	GATGGCCATGC	NONE	.	.	.	.	.	ENSP00000301891	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000301891	Transcript	.	.	ENSG00000168065	18120	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	S22AB_HUMAN	SLC22A11	HGNC	.	.	UPI000003ED3F	SNV	SLC22A11,3_prime_UTR_variant,,ENST00000377581,;SLC22A11,3_prime_UTR_variant,,ENST00000377585,;SLC22A11,3_prime_UTR_variant,,ENST00000301891,;SLC22A11,3_prime_UTR_variant,,ENST00000416590,;SLC22A11,3_prime_UTR_variant,,ENST00000428570,;SLC22A11,downstream_gene_variant,,ENST00000460745,;	2278	10	14	SUCCESS
H2AFJ	0	.	GRCh37	12	14928129	14928129	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	5	67	0	ENST00000544848.1:c.*335C>T			ENST00000544848	NM_177925.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31752.1	.	MUTECT|MUSE	.	GTGGGCAGGGT	NONE	.	.	.	.	.	ENSP00000438553	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000544848	Transcript	.	.	ENSG00000246705	14456	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	H2AJ_HUMAN	H2AFJ	HGNC	H0YFX9_HUMAN	.	UPI000006D12E	SNV	H2AFJ,3_prime_UTR_variant,,ENST00000544848,;HIST4H4,upstream_gene_variant,,ENST00000539745,;HIST4H4,upstream_gene_variant,,ENST00000537853,;HIST4H4,upstream_gene_variant,,ENST00000540565,;H2AFJ,intron_variant,,ENST00000389078,;H2AFJ,intron_variant,,ENST00000501744,;HIST4H4,upstream_gene_variant,,ENST00000358064,;	860	67	70	SUCCESS
CACNA2D4	93589	.	GRCh37	12	1902716	1902717	+	3_prime_UTR_variant	3'UTR	INS	-	-	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	77	34	72	0	ENST00000382722.5:c.*104dup			ENST00000382722	NM_172364.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44785.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGGCCTGGGGG	NONE	.	.	.	.	.	ENSP00000372169	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000382722	Transcript	.	.	ENSG00000151062	20202	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA2D4_HUMAN	CACNA2D4	HGNC	.	.	UPI0000E593D9	insertion	CACNA2D4,3_prime_UTR_variant,,ENST00000587995,;CACNA2D4,3_prime_UTR_variant,,ENST00000382722,;CACNA2D4,3_prime_UTR_variant,,ENST00000538450,;ADIPOR2,downstream_gene_variant,,ENST00000357103,;CACNA2D4,downstream_gene_variant,,ENST00000586184,;CACNA2D4,downstream_gene_variant,,ENST00000538027,;CACNA2D4,downstream_gene_variant,,ENST00000585708,;CACNA2D4,downstream_gene_variant,,ENST00000588077,;CACNA2D4,downstream_gene_variant,,ENST00000536846,;CACNA2D4,3_prime_UTR_variant,,ENST00000585385,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,3_prime_UTR_variant,,ENST00000545595,;CACNA2D4,3_prime_UTR_variant,,ENST00000537784,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000541444,;CACNA2D4,downstream_gene_variant,,ENST00000588896,;CACNA2D4,downstream_gene_variant,,ENST00000536818,;CACNA2D4,downstream_gene_variant,,ENST00000543405,;CACNA2D4,downstream_gene_variant,,ENST00000537923,;	3881-3882	72	111	SUCCESS
DTX3	196403	.	GRCh37	12	58002944	58002944	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs776406575	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	85	18	80	0	ENST00000337737.3:c.*9G>A			ENST00000337737	NM_178502.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS41800.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACATCGCCTTT	NONE	byFrequency	.	.	.	.	ENSP00000447873	.	5/5	.	.	.	.	.	.	.	.	rs776406575	5/5	PASS	ENST00000548198	Transcript	.	.	ENSG00000178498	24457	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DTX3_HUMAN	DTX3	HGNC	F8VV96_HUMAN	.	UPI00000437C5	SNV	DTX3,3_prime_UTR_variant,,ENST00000337737,;DTX3,3_prime_UTR_variant,,ENST00000548804,;DTX3,3_prime_UTR_variant,,ENST00000548198,;DTX3,3_prime_UTR_variant,,ENST00000550300,;DTX3,3_prime_UTR_variant,,ENST00000551632,;DTX3,downstream_gene_variant,,ENST00000549583,;ARHGEF25,upstream_gene_variant,,ENST00000286494,;DTX3,downstream_gene_variant,,ENST00000548478,;DTX3,downstream_gene_variant,,ENST00000550596,;DTX3,downstream_gene_variant,,ENST00000551835,;ARHGEF25,upstream_gene_variant,,ENST00000333972,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;ARHGEF25,upstream_gene_variant,,ENST00000471370,;	2557	80	103	SUCCESS
ATP5EP2	0	.	GRCh37	13	28519341	28519341	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	33	77	0				ENST00000381026				0	.	.	.	.	.	G	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAAAGGACA	NONE	.	2	.	.	.	ENSP00000370414	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000381026	Transcript	.	.	ENSG00000180389	34026	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AT5EL_HUMAN	ATP5EP2	HGNC	.	.	UPI00001616B3	SNV	ATP5EP2,upstream_gene_variant,,ENST00000381026,;	.	77	82	SUCCESS
TRIM13	10206	.	GRCh37	13	50591836	50591836	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	74	20	97	0	ENST00000378182.3:c.*4536T>C			ENST00000378182	NM_213590.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41888.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAAATTATGGG	NONE	.	4520	.	.	.	ENSP00000348299	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356017	Transcript	.	.	ENSG00000204977	9976	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRI13_HUMAN	TRIM13	HGNC	.	.	UPI00001FCDDE	SNV	TRIM13,3_prime_UTR_variant,,ENST00000378182,;KCNRG,intron_variant,,ENST00000360473,;KCNRG,intron_variant,,ENST00000312942,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000298772,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	.	97	95	SUCCESS
SLITRK5	26050	.	GRCh37	13	88331679	88331679	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	134	5	149	0	ENST00000325089.6:c.*1159A>G			ENST00000325089	NM_015567.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS9465.1	.	MUTECT|MUSE	.	CTGGCACCTCA	NONE	.	.	.	.	.	ENSP00000366283	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000325089	Transcript	.	.	ENSG00000165300	20295	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SLIK5_HUMAN	SLITRK5	HGNC	.	.	UPI000015F6F7	SNV	SLITRK5,3_prime_UTR_variant,,ENST00000325089,;SLITRK5,downstream_gene_variant,,ENST00000400028,;	4255	149	139	SUCCESS
KIF26A	26153	.	GRCh37	14	104646180	104646180	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs908806319	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	20	8	45	0				ENST00000423312	NM_015656.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45171.1	.	MUTECT|MUSE	.	GGGACGTGGGA	NONE	.	53	.	.	.	ENSP00000388241	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000423312	Transcript	.	.	ENSG00000066735	20226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI26A_HUMAN	KIF26A	HGNC	C9JFF0_HUMAN	.	UPI00006C145D	SNV	KIF26A,3_prime_UTR_variant,,ENST00000315264,;KIF26A,downstream_gene_variant,,ENST00000423312,;	.	45	28	SUCCESS
EID1	23741	.	GRCh37	15	49171944	49171944	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	18	144	0	ENST00000530028.2:c.*1007T>C			ENST00000530028	NM_014335.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS53941.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAATTAAGCT	NONE	.	.	.	.	.	ENSP00000431162	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000530028	Transcript	.	.	ENSG00000255302	1191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EID1_HUMAN	EID1	HGNC	.	.	UPI0000073CFD	SNV	EID1,3_prime_UTR_variant,,ENST00000530028,;SHC4,intron_variant,,ENST00000332408,;EID1,downstream_gene_variant,,ENST00000560490,;SHC4,upstream_gene_variant,,ENST00000537958,;SHC4,upstream_gene_variant,,ENST00000558220,;SHC4,upstream_gene_variant,,ENST00000396535,;EID1,downstream_gene_variant,,ENST00000558295,;SHC4,upstream_gene_variant,,ENST00000559289,;SHC4,upstream_gene_variant,,ENST00000557797,;AC012379.1,downstream_gene_variant,,ENST00000441252,;	1862	144	104	SUCCESS
KBTBD13	390594	.	GRCh37	15	65368919	65368919	+	upstream_gene_variant	5'Flank	SNP	T	T	C	rs1024351057	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	18	0				ENST00000432196	NM_001101362.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45281.1	.	MUTECT|MUSE	.	AATTCTGGACC	NONE	.	235	.	.	.	ENSP00000388723	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000432196	Transcript	1	.	ENSG00000234438	37227	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KBTBD_HUMAN	KBTBD13	HGNC	.	.	UPI0000161560	SNV	RASL12,synonymous_variant,p.%3D,ENST00000434605,;KBTBD13,upstream_gene_variant,,ENST00000432196,;	.	18	8	SUCCESS
LRRC29	26231	.	GRCh37	16	67241435	67241435	+	intron_variant	Intron	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	21	0	ENST00000393992.1:c.*7-28G>T			ENST00000393992	NM_012163.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32465.1	.	MUTECT|MUSE	.	GCAACCCGGGT	NONE	.	.	.	.	.	ENSP00000387318	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000409037	Transcript	.	.	ENSG00000125122	13605	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LRC29_HUMAN	LRRC29	HGNC	C9JSY0_HUMAN	.	UPI0000049C46	SNV	LRRC29,3_prime_UTR_variant,,ENST00000409509,;LRRC29,intron_variant,,ENST00000409037,;LRRC29,intron_variant,,ENST00000393992,;LRRC29,intron_variant,,ENST00000341546,;ELMO3,downstream_gene_variant,,ENST00000477898,;LRRC29,downstream_gene_variant,,ENST00000447579,;LRRC29,downstream_gene_variant,,ENST00000424285,;ELMO3,downstream_gene_variant,,ENST00000393997,;AC040160.1,downstream_gene_variant,,ENST00000454102,;LRRC29,downstream_gene_variant,,ENST00000433915,;ELMO3,downstream_gene_variant,,ENST00000360833,;LRRC29,downstream_gene_variant,,ENST00000462169,;LRRC29,downstream_gene_variant,,ENST00000485549,;	.	21	13	SUCCESS
TMEM220	388335	.	GRCh37	17	10618642	10618642	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	24	0	ENST00000341871.3:c.*128del			ENST00000341871	NM_001004313.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32567.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	ACCCTTAAAAAG	NONE	.	.	.	.	.	ENSP00000339830	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000341871	Transcript	.	.	ENSG00000187824	33757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	TM220_HUMAN	TMEM220	HGNC	.	.	UPI00001D79BC	deletion	TMEM220,3_prime_UTR_variant,,ENST00000341871,;TMEM220,3_prime_UTR_variant,,ENST00000455996,;TMEM220,intron_variant,,ENST00000580787,;TMEM220,downstream_gene_variant,,ENST00000578345,;ADPRM,downstream_gene_variant,,ENST00000379774,;TMEM220,downstream_gene_variant,,ENST00000581949,;ADPRM,downstream_gene_variant,,ENST00000609540,;TMEM220,downstream_gene_variant,,ENST00000580186,;MAGOH2,downstream_gene_variant,,ENST00000584384,;ADPRM,downstream_gene_variant,,ENST00000468843,;MAGOH2,downstream_gene_variant,,ENST00000580926,;	1076	24	30	SUCCESS
TSR1	55720	.	GRCh37	17	2227356	2227356	+	3_prime_UTR_variant	3'UTR	DEL	A	A	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	6	15	0	ENST00000301364.5:c.*134del			ENST00000301364	NM_018128.4			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS11017.1	.	INDELOCATOR|VARSCANI	.	AAGGCTAAAAAA	NONE	.	.	.	.	.	ENSP00000339435	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000344595	Transcript	.	.	ENSG00000167720	14398	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SRR_HUMAN	SRR	HGNC	Q8N3F4_HUMAN,Q3ZK31_HUMAN,I3L4W4_HUMAN,I3L4L3_HUMAN,I3L3N0_HUMAN	.	UPI00000015D7	deletion	SRR,3_prime_UTR_variant,,ENST00000344595,;TSR1,3_prime_UTR_variant,,ENST00000301364,;SRR,downstream_gene_variant,,ENST00000576848,;SRR,downstream_gene_variant,,ENST00000576620,;SRR,downstream_gene_variant,,ENST00000574987,;TSR1,downstream_gene_variant,,ENST00000575049,;	1530	15	17	SUCCESS
PYY	5697	.	GRCh37	17	42030227	42030227	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs542802567	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	22	3	32	0	ENST00000360085.2:c.*97C>T			ENST00000360085	NM_004160.4			0	.	A:0.003	.	A:0	.	A	.	protein_coding	YES	CCDS32662.1	.	RADIA|MUTECT|MUSE	.	ACGCCGCCGTC	NONE	byFrequency|by1000G	.	.	A:0	.	ENSP00000353198	A:0	7/7	.	.	.	.	.	.	.	.	rs542802567	7/7	PASS	ENST00000360085	Transcript	.	A:0.0008	ENSG00000131096	9748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	PYY_HUMAN	PYY	HGNC	.	.	UPI000013CDD0	SNV	PYY,3_prime_UTR_variant,,ENST00000360085,;PYY,downstream_gene_variant,,ENST00000592796,;	932	32	26	SUCCESS
KIF18B	146909	.	GRCh37	17	43003273	43003273	+	downstream_gene_variant	3'Flank	SNP	G	G	A	rs528694207	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	8	0				ENST00000593135	NM_001265577.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS45709.2	.	MUTECT|MUSE	.	GAGTAGCAGGA	NONE	.	87	.	.	.	ENSP00000465992	.	.	.	.	.	.	.	.	.	.	rs528694207	.	PASS	ENST00000593135	Transcript	.	.	ENSG00000186185	27102	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KI18B_HUMAN	KIF18B	HGNC	.	.	UPI000192C418	SNV	KIF18B,3_prime_UTR_variant,,ENST00000587309,;KIF18B,downstream_gene_variant,,ENST00000593135,;KIF18B,downstream_gene_variant,,ENST00000590129,;KIF18B,downstream_gene_variant,,ENST00000438933,;KIF18B,downstream_gene_variant,,ENST00000339151,;	.	8	12	SUCCESS
PRCD	768206	.	GRCh37	17	74539892	74539892	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	64	12	57	0				ENST00000586148				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS42382.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAGAGCTCA	NONE	.	423	.	.	.	ENSP00000465932	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000586148	Transcript	.	.	ENSG00000214140	32528	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRCD_HUMAN	PRCD	HGNC	.	.	UPI000047DE08	SNV	PRCD,3_prime_UTR_variant,,ENST00000592014,;CYGB,intron_variant,,ENST00000589145,;PRCD,downstream_gene_variant,,ENST00000586148,;RP11-666A8.8,downstream_gene_variant,,ENST00000589963,;PRCD,non_coding_transcript_exon_variant,,ENST00000587289,;PRCD,non_coding_transcript_exon_variant,,ENST00000465808,;PRCD,non_coding_transcript_exon_variant,,ENST00000592340,;PRCD,non_coding_transcript_exon_variant,,ENST00000397633,;PRCD,non_coding_transcript_exon_variant,,ENST00000592432,;PRCD,intron_variant,,ENST00000587813,;PRCD,upstream_gene_variant,,ENST00000591317,;PRCD,upstream_gene_variant,,ENST00000593023,;PRCD,downstream_gene_variant,,ENST00000590555,;PRCD,upstream_gene_variant,,ENST00000587063,;PRCD,non_coding_transcript_exon_variant,,ENST00000397630,;	.	57	76	SUCCESS
C17orf70	0	.	GRCh37	17	79507804	79507804	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	42	13	39	0	ENST00000327787.8:c.*41C>T			ENST00000327787				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32765.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGGCTGG	NONE	.	.	.	.	.	ENSP00000333283	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000327787	Transcript	.	.	ENSG00000185504	26171	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FP100_HUMAN	C17orf70	HGNC	J3KQD8_HUMAN,F5H095_HUMAN,F5GZS4_HUMAN	.	UPI0001C53D21	SNV	C17orf70,3_prime_UTR_variant,,ENST00000425898,;C17orf70,3_prime_UTR_variant,,ENST00000537152,;C17orf70,3_prime_UTR_variant,,ENST00000327787,;FSCN2,downstream_gene_variant,,ENST00000417245,;FSCN2,downstream_gene_variant,,ENST00000334850,;C17orf70,3_prime_UTR_variant,,ENST00000443656,;C17orf70,downstream_gene_variant,,ENST00000545865,;FSCN2,downstream_gene_variant,,ENST00000527221,;	2734	39	55	SUCCESS
RNU6-721P	106481774	.	GRCh37	18	15323316	15323316	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	149	10	164	0				ENST00000410155				0	.	.	.	.	.	C	.	snRNA	YES	.	.	MUTECT|MUSE	.	AATTTGCTCAC	NONE	.	2373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000410155	Transcript	.	.	ENSG00000222087	47684	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RNU6-721P	HGNC	.	.	.	SNV	RNU6-721P,upstream_gene_variant,,ENST00000410155,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000504516,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000455308,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000333851,;AP005901.1,non_coding_transcript_exon_variant,,ENST00000508721,;	.	164	159	SUCCESS
UNC13A	23025	.	GRCh37	19	17799246	17799247	+	upstream_gene_variant	5'Flank	INS	-	-	G	rs140985715	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	26	12	25	0				ENST00000519716	NM_001080421.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46013.2	.	INDELOCATOR|VARSCANI	.	CGGGCTGGGGG	NONE	byFrequency|byCluster|by1000G	238	.	.	.	ENSP00000429562	.	.	.	.	.	.	.	.	.	.	rs140985715	.	common_in_exac	ENST00000519716	Transcript	1	G:0.1230	ENSG00000130477	23150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	UN13A_HUMAN	UNC13A	HGNC	.	.	UPI00006C19A7	insertion	UNC13A,frameshift_variant,p.Ala53SerfsTer50,ENST00000428389,;UNC13A,upstream_gene_variant,,ENST00000519716,;UNC13A,upstream_gene_variant,,ENST00000550896,;UNC13A,upstream_gene_variant,,ENST00000552293,;UNC13A,upstream_gene_variant,,ENST00000551649,;	.	25	38	SUCCESS
THOP1	7064	.	GRCh37	19	2813332	2813332	+	3_prime_UTR_variant	3'UTR	DEL	C	C	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	39	4	35	0	ENST00000307741.6:c.*62del			ENST00000307741	NM_003249.3			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS12095.1	.	VARSCANI*|PINDEL	.	CCTTAGCCCCCG	NONE	.	.	.	.	.	ENSP00000304467	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000307741	Transcript	.	.	ENSG00000172009	11793	4	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	THOP1_HUMAN	THOP1	HGNC	Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN	.	UPI0000000C3E	deletion	THOP1,3_prime_UTR_variant,,ENST00000590970,;THOP1,3_prime_UTR_variant,,ENST00000307741,;THOP1,3_prime_UTR_variant,,ENST00000395212,;THOP1,3_prime_UTR_variant,,ENST00000586677,;THOP1,intron_variant,,ENST00000591363,;THOP1,downstream_gene_variant,,ENST00000587401,;THOP1,downstream_gene_variant,,ENST00000587468,;THOP1,downstream_gene_variant,,ENST00000591149,;THOP1,downstream_gene_variant,,ENST00000592639,;THOP1,non_coding_transcript_exon_variant,,ENST00000589087,;THOP1,downstream_gene_variant,,ENST00000590533,;	2331	35	43	SUCCESS
GNA11	2767	.	GRCh37	19	3121288	3121288	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs991224051	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	19	9	36	0	ENST00000078429.4:c.*111C>T			ENST00000078429	NM_002067.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12103.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGCCCGCGGG	NONE	.	.	.	.	.	ENSP00000078429	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000078429	Transcript	1	.	ENSG00000088256	4379	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GNA11_HUMAN	GNA11	HGNC	Q59FM5_HUMAN	.	UPI000004D209	SNV	GNA11,3_prime_UTR_variant,,ENST00000078429,;GNA11,intron_variant,,ENST00000587636,;AC005262.2,splice_region_variant,,ENST00000585980,;AC005262.3,upstream_gene_variant,,ENST00000587701,;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,;GNA11,downstream_gene_variant,,ENST00000591301,;	1433	36	28	SUCCESS
HAUS5	23354	.	GRCh37	19	36113979	36113979	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs954410614	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	4	47	0	ENST00000203166.5:c.*84C>T			ENST00000203166	NM_015302.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS42550.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGCAGCGCCAG	NONE	.	.	.	.	.	ENSP00000439056	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000203166	Transcript	.	.	ENSG00000249115	29130	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HAUS5_HUMAN	HAUS5	HGNC	.	.	UPI0000169F45	SNV	HAUS5,missense_variant,p.Arg118Cys,ENST00000590994,;HAUS5,3_prime_UTR_variant,,ENST00000203166,;HAUS5,3_prime_UTR_variant,,ENST00000379045,;HAUS5,3_prime_UTR_variant,,ENST00000587439,;HAUS5,3_prime_UTR_variant,,ENST00000424522,;HAUS5,non_coding_transcript_exon_variant,,ENST00000428854,;HAUS5,non_coding_transcript_exon_variant,,ENST00000585968,;HAUS5,downstream_gene_variant,,ENST00000430749,;	2011	47	35	SUCCESS
ZBTB7A	51341	.	GRCh37	19	4047674	4047674	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs569992646	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	39	11	33	0	ENST00000322357.4:c.*76C>A			ENST00000322357	NM_015898.2			0	.	T:0.0008	.	T:0.0014	.	T	.	protein_coding	YES	CCDS12119.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTTGGGGGG	NONE	byFrequency|by1000G	.	.	T:0.001	.	ENSP00000323670	T:0	3/3	.	.	.	.	.	.	.	.	rs569992646	3/3	PASS	ENST00000322357	Transcript	.	T:0.0006	ENSG00000178951	18078	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZBT7A_HUMAN	ZBTB7A	HGNC	.	.	UPI000006E9D9	SNV	ZBTB7A,3_prime_UTR_variant,,ENST00000322357,;ZBTB7A,downstream_gene_variant,,ENST00000601588,;AC016586.1,upstream_gene_variant,,ENST00000535853,;	2110	33	50	SUCCESS
ERF	2077	.	GRCh37	19	42752475	42752475	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	10	0	ENST00000222329.4:c.*142A>T			ENST00000222329	NM_006494.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12600.1	.	MUTECT|MUSE	.	TAAAGTTTTAT	NONE	.	.	.	.	.	ENSP00000222329	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000222329	Transcript	1	.	ENSG00000105722	3444	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ERF_HUMAN	ERF	HGNC	M0QXN0_HUMAN,B7Z6N1_HUMAN,B7Z4R0_HUMAN	.	UPI000000106F	SNV	ERF,3_prime_UTR_variant,,ENST00000222329,;ERF,3_prime_UTR_variant,,ENST00000440177,;AC006486.9,intron_variant,,ENST00000594664,;AC006486.1,downstream_gene_variant,,ENST00000378108,;ERF,downstream_gene_variant,,ENST00000598965,;ERF,downstream_gene_variant,,ENST00000593944,;ERF,downstream_gene_variant,,ENST00000595941,;ERF,downstream_gene_variant,,ENST00000596818,;ERF,downstream_gene_variant,,ENST00000595448,;	1947	10	13	SUCCESS
KLK15	55554	.	GRCh37	19	51329027	51329027	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs780273488	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	65	19	75	0	ENST00000598239.1:c.*25C>A			ENST00000598239	NM_001277081.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12805.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAGGGGCAC	NONE	.	.	.	.	.	ENSP00000469315	.	5/5	.	.	.	.	.	.	.	.	rs780273488	5/5	PASS	ENST00000598239	Transcript	.	.	ENSG00000174562	20453	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KLK15_HUMAN	KLK15	HGNC	S5TEP0_HUMAN,M0R2F7_HUMAN	.	UPI000004CA04	SNV	KLK15,3_prime_UTR_variant,,ENST00000326856,;KLK15,3_prime_UTR_variant,,ENST00000598239,;KLK15,3_prime_UTR_variant,,ENST00000301421,;KLK15,3_prime_UTR_variant,,ENST00000596931,;KLK15,3_prime_UTR_variant,,ENST00000416184,;KLK15,downstream_gene_variant,,ENST00000598673,;KLK1,upstream_gene_variant,,ENST00000301420,;KLK1,upstream_gene_variant,,ENST00000448701,;AC011523.2,upstream_gene_variant,,ENST00000598079,;KLK15,3_prime_UTR_variant,,ENST00000602114,;KLK15,non_coding_transcript_exon_variant,,ENST00000596531,;KLK15,non_coding_transcript_exon_variant,,ENST00000601680,;KLK1,upstream_gene_variant,,ENST00000593859,;KLK1,upstream_gene_variant,,ENST00000593325,;KLK1,upstream_gene_variant,,ENST00000596300,;	827	75	85	SUCCESS
CD58	965	.	GRCh37	1	117057196	117057196	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	4	35	0	ENST00000369489.5:c.*239T>C			ENST00000369489	NM_001779.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS888.1	.	MUTECT|MUSE	.	TATCTACATCA	NONE	.	.	.	.	.	ENSP00000358501	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000369489	Transcript	.	.	ENSG00000116815	1688	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LFA3_HUMAN	CD58	HGNC	.	.	UPI000004D166	SNV	CD58,3_prime_UTR_variant,,ENST00000369489,;CD58,downstream_gene_variant,,ENST00000457047,;CD58,downstream_gene_variant,,ENST00000526981,;CD58,downstream_gene_variant,,ENST00000464088,;	1059	35	58	SUCCESS
TIPRL	261726	.	GRCh37	1	168169417	168169418	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	13	0	ENST00000367833.2:c.*136dup			ENST00000367833	NM_152902.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1270.1	.	INDELOCATOR|VARSCANI	.	AAAAATAAAGA	NONE	.	.	.	.	.	ENSP00000356807	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000367833	Transcript	.	.	ENSG00000143155	30231	3	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIPRL_HUMAN	TIPRL	HGNC	.	.	UPI0000071605	insertion	TIPRL,3_prime_UTR_variant,,ENST00000367833,;	1097-1098	13	18	SUCCESS
SFT2D2	375035	.	GRCh37	1	168216311	168216312	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	80	25	61	0	ENST00000271375.4:c.*4541dup			ENST00000271375	NM_199344.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1271.1	.	INDELOCATOR|VARSCANI	.	TATTTCTTTTT	NONE	.	.	.	.	.	ENSP00000271375	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000271375	Transcript	.	.	ENSG00000213064	25140	8	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SFT2B_HUMAN	SFT2D2	HGNC	.	.	UPI0000072549	insertion	SFT2D2,3_prime_UTR_variant,,ENST00000271375,;SFT2D2,downstream_gene_variant,,ENST00000367825,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000358576,;ANKRD36BP1,non_coding_transcript_exon_variant,,ENST00000604892,;	5088-5089	61	106	SUCCESS
RP5-1182A14.5	0	.	GRCh37	1	16945351	16945353	+	downstream_gene_variant	3'Flank	DEL	AGG	AGG	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	AGG	AGG	.	.	.	.	.	.	.	.	.	.	.	.	.	64	8	85	0				ENST00000607700				0	.	.	.	.	.	-	.	lincRNA	YES	.	.	INDELOCATOR*|PINDEL	.	CAGAGTAGGAGAAG	NONE	.	1127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000607700	Transcript	.	.	ENSG00000271732	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	RP5-1182A14.5	Clone_based_vega_gene	.	.	.	deletion	CROCCP2,non_coding_transcript_exon_variant,,ENST00000540383,;CROCCP2,non_coding_transcript_exon_variant,,ENST00000412962,;RP5-1182A14.5,downstream_gene_variant,,ENST00000607700,;	.	85	72	SUCCESS
CR1	1378	.	GRCh37	1	207812779	207812779	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs780373506	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	13	71	0	ENST00000367051.1:c.*25A>G			ENST00000367051				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS44308.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAACATCTCG	NONE	.	25	.	.	.	ENSP00000356016	.	.	.	.	.	.	.	.	.	.	rs780373506	.	PASS	ENST00000367049	Transcript	.	.	ENSG00000203710	2334	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CR1	HGNC	Q9UQR7_HUMAN,Q9HB99_HUMAN,E9PDY4_HUMAN,B4DPT3_HUMAN	.	UPI000040E8CF	SNV	CR1,3_prime_UTR_variant,,ENST00000367051,;CR1,3_prime_UTR_variant,,ENST00000367052,;CR1,3_prime_UTR_variant,,ENST00000400960,;CR1,3_prime_UTR_variant,,ENST00000367053,;CR1,downstream_gene_variant,,ENST00000367049,;	.	71	80	SUCCESS
KIF26B	55083	.	GRCh37	1	245866042	245866042	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs779695942	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	11	10	12	0	ENST00000407071.2:c.*134C>T			ENST00000407071	NM_018012.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS44342.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGGGCGTTGA	NONE	.	.	.	.	.	ENSP00000385545	.	15/15	.	.	.	.	.	.	.	.	rs779695942	15/15	PASS	ENST00000407071	Transcript	.	.	ENSG00000162849	25484	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KI26B_HUMAN	KIF26B	HGNC	B4DF75_HUMAN	.	UPI0000695D71	SNV	KIF26B,3_prime_UTR_variant,,ENST00000407071,;KIF26B,3_prime_UTR_variant,,ENST00000366518,;	6901	12	21	SUCCESS
FOXD2	2306	.	GRCh37	1	47905855	47905855	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	67	5	96	0	ENST00000334793.5:c.*560C>T			ENST00000334793	NM_004474.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30708.1	.	MUTECT|MUSE	.	GTCTACGCAGG	NONE	.	.	.	.	.	ENSP00000335493	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000334793	Transcript	.	.	ENSG00000186564	3803	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FOXD2_HUMAN	FOXD2	HGNC	.	.	UPI000014153E	SNV	FOXD2,3_prime_UTR_variant,,ENST00000334793,;	4167	96	72	SUCCESS
JUN	3725	.	GRCh37	1	59247677	59247678	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	52	21	67	0	ENST00000371222.2:c.*69dup			ENST00000371222	NM_002228.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS610.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTTGTCAAGTT	NONE	.	.	.	.	.	ENSP00000360266	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000371222	Transcript	.	.	ENSG00000177606	6204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	JUN_HUMAN	JUN	HGNC	.	.	UPI000000D908	insertion	JUN,3_prime_UTR_variant,,ENST00000371222,;LINC01135,upstream_gene_variant,,ENST00000544621,;LINC01135,upstream_gene_variant,,ENST00000419531,;	2108-2109	67	73	SUCCESS
CTBS	1486	.	GRCh37	1	85018999	85018999	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	7	50	0	ENST00000370630.5:c.*1683del			ENST00000370630	NM_004388.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS698.1	.	VARSCANI*|PINDEL	.	TGGTTATTTTTA	NONE	.	.	.	.	.	ENSP00000359664	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000370630	Transcript	.	.	ENSG00000117151	2496	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DIAC_HUMAN	CTBS	HGNC	.	.	UPI00001293CB	deletion	CTBS,3_prime_UTR_variant,,ENST00000370630,;CTBS,non_coding_transcript_exon_variant,,ENST00000477677,;SPATA1,intron_variant,,ENST00000460286,;SPATA1,downstream_gene_variant,,ENST00000431031,;SPATA1,downstream_gene_variant,,ENST00000490879,;CTBS,downstream_gene_variant,,ENST00000465118,;CTBS,downstream_gene_variant,,ENST00000370625,;SPATA1,intron_variant,,ENST00000263717,;SPATA1,downstream_gene_variant,,ENST00000554297,;	2890	50	57	SUCCESS
CTSA	5476	.	GRCh37	20	44527172	44527172	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	5	16	0	ENST00000191018.5:c.*83C>A			ENST00000191018				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS13385.2	.	RADIA|MUTECT|MUSE|VARSCANS	.	AGTGCCCCTGC	NONE	.	.	.	.	.	ENSP00000361562	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000372484	Transcript	1	.	ENSG00000064601	9251	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	CTSA	HGNC	U3KQF1_HUMAN,U3KQ41_HUMAN,Q5JZG9_HUMAN,Q59EV6_HUMAN	.	UPI000022B4F7	SNV	CTSA,3_prime_UTR_variant,,ENST00000372484,;CTSA,3_prime_UTR_variant,,ENST00000354880,;CTSA,3_prime_UTR_variant,,ENST00000372459,;CTSA,3_prime_UTR_variant,,ENST00000191018,;PLTP,downstream_gene_variant,,ENST00000372420,;PLTP,downstream_gene_variant,,ENST00000372431,;PLTP,downstream_gene_variant,,ENST00000477313,;PLTP,downstream_gene_variant,,ENST00000354050,;CTSA,downstream_gene_variant,,ENST00000419493,;PLTP,downstream_gene_variant,,ENST00000420868,;PLTP,downstream_gene_variant,,ENST00000542937,;CTSA,3_prime_UTR_variant,,ENST00000606788,;CTSA,non_coding_transcript_exon_variant,,ENST00000606000,;CTSA,non_coding_transcript_exon_variant,,ENST00000484855,;CTSA,downstream_gene_variant,,ENST00000607187,;CTSA,downstream_gene_variant,,ENST00000480961,;CTSA,downstream_gene_variant,,ENST00000493522,;CTSA,downstream_gene_variant,,ENST00000485627,;	1862	16	15	SUCCESS
PRND	23627	.	GRCh37	20	4706009	4706009	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs545772514	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	91	38	106	0	ENST00000305817.2:c.*281C>T			ENST00000305817	NM_012409.2			0	.	T:0.0015	.	T:0	.	T	.	protein_coding	YES	CCDS13081.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACTGCGCCAC	NONE	byFrequency|byCluster|by1000G	.	.	T:0	.	ENSP00000306900	T:0	2/2	.	.	.	.	.	.	.	.	rs545772514	2/2	PASS	ENST00000305817	Transcript	.	T:0.0004	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,3_prime_UTR_variant,,ENST00000305817,;	883	106	130	SUCCESS
CACNG2	10369	.	GRCh37	22	36960273	36960274	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	rs562507526	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	24	0	ENST00000300105.6:c.*124dup			ENST00000300105	NM_006078.3			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS13931.1	.	INDELOCATOR|VARSCANI	.	TTTTTGTTTTT	NONE	byFrequency|by1000G	.	.	T:0.002	.	ENSP00000300105	T:0	4/4	.	.	.	.	.	.	.	.	rs562507526	4/4	PASS	ENST00000300105	Transcript	.	T:0.0006	ENSG00000166862	1406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CCG2_HUMAN	CACNG2	HGNC	.	.	UPI00001272AC	insertion	CACNG2,3_prime_UTR_variant,,ENST00000300105,;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	2078-2079	24	37	SUCCESS
HOXD3	3232	.	GRCh37	2	177037011	177037011	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs201134562	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	7	43	0	ENST00000249440.3:c.*9G>A			ENST00000249440	NM_006898.4			0	A:0	.	.	.	.	A	.	protein_coding	YES	CCDS2270.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCGCCGCCAGC	NONE	byCluster	.	.	.	A:0.0001	ENSP00000424734	.	4/4	.	.	.	.	.	.	.	.	rs201134562	4/4	PASS	ENST00000468418	Transcript	.	.	ENSG00000128652	5137	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	HXD3_HUMAN	HOXD3	HGNC	C9J1M3_HUMAN	.	UPI000013CC84	SNV	HOXD3,3_prime_UTR_variant,,ENST00000410016,;HOXD3,3_prime_UTR_variant,,ENST00000249440,;HOXD3,3_prime_UTR_variant,,ENST00000468418,;HOXD3,downstream_gene_variant,,ENST00000432796,;HOXD-AS1,downstream_gene_variant,,ENST00000417086,;HOXD-AS1,downstream_gene_variant,,ENST00000549329,;HOXD-AS1,downstream_gene_variant,,ENST00000447538,;HOXD-AS1,downstream_gene_variant,,ENST00000413969,;HOXD-AS1,downstream_gene_variant,,ENST00000416928,;HOXD-AS1,downstream_gene_variant,,ENST00000552156,;HOXD-AS1,downstream_gene_variant,,ENST00000547207,;HOXD-AS1,downstream_gene_variant,,ENST00000425005,;HOXD-AS1,downstream_gene_variant,,ENST00000436126,;HOXD-AS1,downstream_gene_variant,,ENST00000546798,;HOXD-AS1,downstream_gene_variant,,ENST00000456876,;HOXD-AS1,downstream_gene_variant,,ENST00000452365,;	3398	43	38	SUCCESS
AGAP1	116987	.	GRCh37	2	237032957	237032957	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs184975965	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	8	15	0	ENST00000304032.8:c.*191G>A			ENST00000304032	NM_001037131.2			0	.	A:0	.	A:0	.	A	.	protein_coding	YES	CCDS33408.1	.	MUTECT|MUSE	.	GAGGCGGCCGG	NONE	by1000G	.	.	A:0	.	ENSP00000307634	A:0.001	18/18	.	.	.	.	.	.	.	.	rs184975965	18/18	PASS	ENST00000304032	Transcript	.	A:0.0002	ENSG00000157985	16922	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	AGAP1_HUMAN	AGAP1	HGNC	Q53S93_HUMAN,Q4ZG54_HUMAN,Q4ZG22_HUMAN,F5GXM9_HUMAN	.	UPI00005E1AE1	SNV	AGAP1,3_prime_UTR_variant,,ENST00000304032,;AGAP1,3_prime_UTR_variant,,ENST00000453371,;AGAP1,3_prime_UTR_variant,,ENST00000336665,;AGAP1,3_prime_UTR_variant,,ENST00000428334,;AGAP1,3_prime_UTR_variant,,ENST00000409538,;AGAP1,downstream_gene_variant,,ENST00000418654,;AGAP1,downstream_gene_variant,,ENST00000466575,;	3345	15	23	SUCCESS
C2orf44	0	.	GRCh37	2	24253600	24253600	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs543973180	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	26	5	42	0	ENST00000295148.4:c.*203G>A			ENST00000295148	NM_025203.2			0	.	T:0	.	T:0.0014	.	T	.	protein_coding	YES	CCDS1705.1	.	MUTECT|MUSE	.	ACTTTCGGAGC	NONE	by1000G	.	.	T:0	.	ENSP00000295148	T:0	4/4	.	.	.	.	.	.	.	.	rs543973180	4/4	PASS	ENST00000295148	Transcript	.	T:0.0002	ENSG00000163026	26157	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	CB044_HUMAN	C2orf44	HGNC	C9JYC1_HUMAN	.	UPI0000070788	SNV	C2orf44,3_prime_UTR_variant,,ENST00000406895,;C2orf44,3_prime_UTR_variant,,ENST00000295148,;MFSD2B,downstream_gene_variant,,ENST00000338315,;MFSD2B,intron_variant,,ENST00000453731,;MFSD2B,downstream_gene_variant,,ENST00000469562,;	2427	42	31	SUCCESS
LEKR1	389170	.	GRCh37	3	156763604	156763604	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	6	17	0	ENST00000470811.1:c.*65A>G			ENST00000470811				0	.	.	.	.	.	G	.	protein_coding	.	.	.	MUTECT|MUSE	.	AATTCACTGTA	NONE	.	.	.	.	.	ENSP00000348936	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000356539	Transcript	.	.	ENSG00000197980	33765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	LEKR1	HGNC	J3KP02_HUMAN	.	UPI0001BB2D45	SNV	LEKR1,3_prime_UTR_variant,,ENST00000356539,;LEKR1,3_prime_UTR_variant,,ENST00000470811,;	2258	17	15	SUCCESS
TMIE	259236	.	GRCh37	3	46751508	46751508	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	14	0	ENST00000326431.3:c.*330C>T			ENST00000326431	NM_147196.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43081.1	.	MUTECT|MUSE	.	GATGGCAGTGG	NONE	.	.	.	.	.	ENSP00000324775	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326431	Transcript	.	.	ENSG00000181585	30800	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TMIE_HUMAN	TMIE	HGNC	.	.	UPI0000141917	SNV	TMIE,3_prime_UTR_variant,,ENST00000326431,;PRSS50,downstream_gene_variant,,ENST00000315170,;PRSS50,downstream_gene_variant,,ENST00000460241,;	956	14	10	SUCCESS
MINA	0	.	GRCh37	3	97661976	97661976	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1310918209	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	34	9	44	0	ENST00000333396.7:c.*2052C>T			ENST00000333396	NM_001042533.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43114.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACCGAAATG	NONE	.	.	.	.	.	ENSP00000328251	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000333396	Transcript	.	.	ENSG00000170854	19441	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MINA_HUMAN	MINA	HGNC	D6RCB6_HUMAN	.	UPI0000074784	SNV	MINA,3_prime_UTR_variant,,ENST00000333396,;CRYBG3,intron_variant,,ENST00000182096,;CRYBG3,intron_variant,,ENST00000389622,;MINA,downstream_gene_variant,,ENST00000503097,;CRYBG3,downstream_gene_variant,,ENST00000495403,;MINA,downstream_gene_variant,,ENST00000394198,;MINA,downstream_gene_variant,,ENST00000360258,;CRYBG3,intron_variant,,ENST00000485253,;MINA,downstream_gene_variant,,ENST00000503517,;MINA,downstream_gene_variant,,ENST00000506682,;MINA,downstream_gene_variant,,ENST00000514314,;	4033	44	43	SUCCESS
LIAS	11019	.	GRCh37	4	39478860	39478860	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs932997845	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	14	42	0	ENST00000261434.3:c.*125T>A			ENST00000261434	NM_006859.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS3453.1	.	MUTECT|MUSE	.	AAAAATGTCAA	NONE	.	.	.	.	.	ENSP00000261434	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000261434	Transcript	1	.	ENSG00000121897	16429	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIAS_HUMAN	LIAS	HGNC	.	.	UPI000004EE9F	SNV	LIAS,3_prime_UTR_variant,,ENST00000381846,;LIAS,3_prime_UTR_variant,,ENST00000261434,;LIAS,3_prime_UTR_variant,,ENST00000340169,;LIAS,downstream_gene_variant,,ENST00000513731,;RP11-472B18.1,upstream_gene_variant,,ENST00000597991,;RP11-472B18.1,upstream_gene_variant,,ENST00000513652,;RP11-472B18.1,upstream_gene_variant,,ENST00000507033,;	1362	42	55	SUCCESS
HIST1H2AD	0	.	GRCh37	6	26199792	26199792	+	upstream_gene_variant	5'Flank	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	100	12	98	0				ENST00000341023	NM_021065.3	2		0	.	.	.	.	.	C	P	protein_coding	YES	CCDS4592.1	6	RADIA|MUTECT|MUSE|VARSCANS	.	ATGCCTGAACC	NONE	.	.	hmmpanther:PTHR23428,Low_complexity_(Seg):seg	.	.	ENSP00000353074	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000359985	Transcript	.	.	ENSG00000197846	4752	.	.	LOW	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	H2B1C_HUMAN	HIST1H2BF	HGNC	B2R4S9_HUMAN	.	UPI0000000C24	SNV	HIST1H2BF,synonymous_variant,p.%3D,ENST00000359985,;HIST1H3D,upstream_gene_variant,,ENST00000377831,;HIST1H2AD,upstream_gene_variant,,ENST00000341023,;HIST1H3D,upstream_gene_variant,,ENST00000356476,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;	45	98	113	SUCCESS
PFDN6	10471	.	GRCh37	6	33258634	33258638	+	3_prime_UTR_variant	3'UTR	DEL	GGGGA	GGGGA	-	rs759486569	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	GGGGA	GGGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	20	10	10	0	ENST00000374606.5:c.*30_*34del			ENST00000374606	NM_001185181.2			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS4773.1	.	INDELOCATOR|VARSCANI	.	TGGTGGGGGGAGGGGA	NONE	.	.	.	.	.	ENSP00000378563	.	5/5	.	.	.	.	.	.	.	.	rs765036669	5/5	PASS	ENST00000395131	Transcript	.	.	ENSG00000204220	4926	18	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PFD6_HUMAN	PFDN6	HGNC	Q5STK2_HUMAN	.	UPI0000001CA9	deletion	PFDN6,3_prime_UTR_variant,,ENST00000395131,;PFDN6,3_prime_UTR_variant,,ENST00000374607,;PFDN6,3_prime_UTR_variant,,ENST00000374610,;PFDN6,3_prime_UTR_variant,,ENST00000374606,;PFDN6,intron_variant,,ENST00000463584,;WDR46,upstream_gene_variant,,ENST00000444176,;WDR46,upstream_gene_variant,,ENST00000374617,;RGL2,downstream_gene_variant,,ENST00000444031,;RGL2,downstream_gene_variant,,ENST00000497454,;WDR46,upstream_gene_variant,,ENST00000477718,;RGL2,downstream_gene_variant,,ENST00000471319,;RGL2,downstream_gene_variant,,ENST00000437840,;RGL2,downstream_gene_variant,,ENST00000491168,;WDR46,upstream_gene_variant,,ENST00000468157,;PFDN6,non_coding_transcript_exon_variant,,ENST00000395134,;PFDN6,non_coding_transcript_exon_variant,,ENST00000491382,;WDR46,upstream_gene_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000478610,;RGL2,downstream_gene_variant,,ENST00000494550,;WDR46,upstream_gene_variant,,ENST00000488944,;RGL2,downstream_gene_variant,,ENST00000476616,;WDR46,upstream_gene_variant,,ENST00000489905,;RGL2,downstream_gene_variant,,ENST00000483151,;	808-812	10	31	SUCCESS
PPP1R3G	648791	.	GRCh37	6	5086858	5086858	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	29	14	40	1	ENST00000405617.2:c.*62G>A			ENST00000405617	NM_001145115.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47366.1	.	SOMATICSNIPER|MUTECT|MUSE|VARSCANS	.	CTGCCGCCTCA	NONE	.	.	.	.	.	ENSP00000393832	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000405617	Transcript	.	.	ENSG00000219607	14945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PP13G_HUMAN	PPP1R3G	HGNC	.	.	UPI0000237382	SNV	PPP1R3G,3_prime_UTR_variant,,ENST00000405617,;	1139	42	44	SUCCESS
TRIM74	378108	.	GRCh37	7	72430353	72430353	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	97	12	86	0	ENST00000285805.3:c.*60A>G			ENST00000285805	NM_198853.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5545.1	.	RADIA|VARSCANS	.	ACCAGTGGAGC	NONE	.	.	.	.	.	ENSP00000285805	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000285805	Transcript	.	.	ENSG00000155428	17453	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TRI74_HUMAN	TRIM74	HGNC	C9JQH3_HUMAN	.	UPI0000192112	SNV	TRIM74,3_prime_UTR_variant,,ENST00000285805,;TRIM74,3_prime_UTR_variant,,ENST00000395244,;	1013	86	109	SUCCESS
PON1	5444	.	GRCh37	7	94928190	94928190	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	11	56	0	ENST00000222381.3:c.*66G>T			ENST00000222381	NM_000446.5			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5638.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GGGTCCTCGGA	NONE	.	.	.	.	.	ENSP00000222381	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000222381	Transcript	.	.	ENSG00000005421	9204	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PON1_HUMAN	PON1	HGNC	.	.	UPI000013C7FD	SNV	PON1,3_prime_UTR_variant,,ENST00000222381,;PON1,downstream_gene_variant,,ENST00000542556,;PPP1R9A,downstream_gene_variant,,ENST00000456331,;PPP1R9A,downstream_gene_variant,,ENST00000433881,;PPP1R9A,downstream_gene_variant,,ENST00000289495,;PPP1R9A,downstream_gene_variant,,ENST00000340694,;PON1,non_coding_transcript_exon_variant,,ENST00000462594,;PON1,downstream_gene_variant,,ENST00000433729,;	1366	56	72	SUCCESS
VDAC3	7419	.	GRCh37	8	42263137	42263137	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs757467967	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	3	16	0	ENST00000022615.4:c.*157C>T			ENST00000022615				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47850.1	.	MUTECT|MUSE	.	GGTTGCGAATC	NONE	.	131	.	.	.	ENSP00000428845	.	.	.	.	.	.	.	.	.	.	rs757467967	.	PASS	ENST00000521158	Transcript	.	.	ENSG00000078668	12674	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VDAC3_HUMAN	VDAC3	HGNC	.	.	UPI000002B16C	SNV	VDAC3,3_prime_UTR_variant,,ENST00000022615,;VDAC3,3_prime_UTR_variant,,ENST00000522572,;VDAC3,3_prime_UTR_variant,,ENST00000392935,;VDAC3,downstream_gene_variant,,ENST00000518563,;VDAC3,downstream_gene_variant,,ENST00000522069,;VDAC3,downstream_gene_variant,,ENST00000520115,;VDAC3,downstream_gene_variant,,ENST00000521158,;VDAC3,downstream_gene_variant,,ENST00000518495,;VDAC3,downstream_gene_variant,,ENST00000522010,;VDAC3,downstream_gene_variant,,ENST00000524291,;VDAC3,downstream_gene_variant,,ENST00000522178,;VDAC3,downstream_gene_variant,,ENST00000521348,;	.	16	30	SUCCESS
PLEKHF2	79666	.	GRCh37	8	96167074	96167075	+	3_prime_UTR_variant	3'UTR	INS	-	-	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	115	23	93	0	ENST00000315367.3:c.*57dup			ENST00000315367	NM_024613.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6267.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AACTTTGGGGG	NONE	.	.	.	.	.	ENSP00000322373	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315367	Transcript	.	.	ENSG00000175895	20757	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PKHF2_HUMAN	PLEKHF2	HGNC	.	.	UPI0000035DB0	insertion	PLEKHF2,3_prime_UTR_variant,,ENST00000315367,;PLEKHF2,3_prime_UTR_variant,,ENST00000519516,;	1043-1044	93	138	SUCCESS
MAGEA3	4102	.	GRCh37	X	151935213	151935213	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	347	147	449	0	ENST00000370278.3:c.*9A>G			ENST00000370278	NM_005362.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14715.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACTCGTGCTCA	NONE	.	.	.	.	.	ENSP00000377480	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000393902	Transcript	.	.	ENSG00000221867	6801	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MAGA3_HUMAN	MAGEA3	HGNC	E7EMU0_HUMAN,B9A060_HUMAN	.	UPI0000062194	SNV	MAGEA3,3_prime_UTR_variant,,ENST00000393902,;MAGEA3,3_prime_UTR_variant,,ENST00000370278,;MAGEA3,downstream_gene_variant,,ENST00000417212,;	1522	449	495	SUCCESS
ZNF275	10838	.	GRCh37	X	152615692	152615692	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	130	22	118	0	ENST00000370251.3:c.*2461C>T			ENST00000370251	NM_001080485.3			0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGCAACAG	NONE	.	.	.	.	.	ENSP00000359271	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370251	Transcript	.	.	ENSG00000063587	13069	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	ZNF275	HGNC	A6NFS0_HUMAN	.	UPI000059DBB5	SNV	ZNF275,3_prime_UTR_variant,,ENST00000370251,;ZNF275,3_prime_UTR_variant,,ENST00000440091,;ZNF275,3_prime_UTR_variant,,ENST00000370249,;ZNF275,3_prime_UTR_variant,,ENST00000421401,;snoU13,upstream_gene_variant,,ENST00000459572,;ZNF275,upstream_gene_variant,,ENST00000438239,;	3628	119	152	SUCCESS
L1CAM	3897	.	GRCh37	X	153152456	153152456	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	247	100	362	1				ENST00000370060	NM_001278116.1	281		0	.	.	.	.	.	A	V	protein_coding	YES	.	843	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAGTGCCCCC	NONE	.	.	.	.	.	ENSP00000389835	.	6/7	.	.	.	.	.	.	.	.	.	6/7	PASS	ENST00000452593	Transcript	.	.	ENSG00000196987	.	.	.	LOW	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	LCA10	Uniprot_gn	I3L0A3_HUMAN	.	UPI000059DBE3	SNV	LCA10,synonymous_variant,p.%3D,ENST00000452593,;LCA10,synonymous_variant,p.%3D,ENST00000357566,;L1CAM,upstream_gene_variant,,ENST00000370060,;L1CAM,upstream_gene_variant,,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000370055,;L1CAM,upstream_gene_variant,,ENST00000484587,;L1CAM,intron_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000460553,;	842	363	347	SUCCESS
HCFC1	3054	.	GRCh37	X	153214785	153214785	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs782487620	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	148	54	207	0	ENST00000310441.7:c.*13T>C			ENST00000310441	NM_005334.2			0	.	T:0	.	T:0	.	G	.	protein_coding	YES	CCDS44020.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTAGTCAG	NONE	by1000G	.	.	T:0.001	.	ENSP00000309555	T:0	26/26	.	.	.	.	.	.	.	.	rs782487620	26/26	PASS	ENST00000310441	Transcript	.	T:0.0003	ENSG00000172534	4839	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	HCFC1_HUMAN	HCFC1	HGNC	Q05C05_HUMAN	.	UPI0000142F1F	SNV	HCFC1,3_prime_UTR_variant,,ENST00000444191,;HCFC1,3_prime_UTR_variant,,ENST00000369984,;HCFC1,3_prime_UTR_variant,,ENST00000310441,;HCFC1,3_prime_UTR_variant,,ENST00000354233,;RENBP,upstream_gene_variant,,ENST00000412763,;RENBP,upstream_gene_variant,,ENST00000393700,;RENBP,upstream_gene_variant,,ENST00000369997,;RENBP,upstream_gene_variant,,ENST00000475904,;RENBP,upstream_gene_variant,,ENST00000471056,;RENBP,upstream_gene_variant,,ENST00000423624,;	7088	207	202	SUCCESS
SPRY3	10251	.	GRCh37	X	155006001	155006001	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	167	50	228	0	ENST00000302805.2:c.*1601A>G			ENST00000302805	NM_005840.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS14769.4	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGCACACACTG	NONE	.	.	.	.	.	ENSP00000302978	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000302805	Transcript	.	.	ENSG00000168939	11271	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPY3_HUMAN	SPRY3	HGNC	.	.	UPI0000135E98	SNV	SPRY3,3_prime_UTR_variant,,ENST00000302805,;	2899	228	217	SUCCESS
PLP2	5355	.	GRCh37	X	49032590	49032590	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	65	17	86	0				ENST00000376327	NM_002668.2	427		0	.	.	.	.	.	T	R/H	protein_coding	YES	CCDS14320.1	1280	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAAGCGGGAG	NONE	.	.	hmmpanther:PTHR24218	.	.	ENSP00000365494	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000376317	Transcript	.	.	ENSG00000012211	6645	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.003)	.	tolerated(0.48)	.	PRIC3_HUMAN	PRICKLE3	HGNC	F5H4N2_HUMAN	.	UPI000004B120	SNV	PRICKLE3,missense_variant,p.Arg440His,ENST00000453382,;PRICKLE3,missense_variant,p.Arg346His,ENST00000536904,;PRICKLE3,missense_variant,p.Arg359His,ENST00000540849,;PRICKLE3,missense_variant,p.Arg263His,ENST00000538114,;PRICKLE3,missense_variant,p.Arg427His,ENST00000376317,;PLP2,downstream_gene_variant,,ENST00000376327,;PRICKLE3,downstream_gene_variant,,ENST00000376310,;PRICKLE3,downstream_gene_variant,,ENST00000432913,;PLP2,downstream_gene_variant,,ENST00000376322,;	1375	86	82	SUCCESS
TRO	7216	.	GRCh37	X	54957724	54957724	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-A9G7-01	TCGA-WQ-A9G7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	143	6	97	1	ENST00000173898.7:c.*99C>T			ENST00000173898	NM_001039705.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43959.1	.	MUTECT|MUSE	.	GTCCACACAGC	NONE	.	.	.	.	.	ENSP00000173898	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000173898	Transcript	.	.	ENSG00000067445	12326	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TROP_HUMAN	TRO	HGNC	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN	.	UPI000021208F	SNV	TRO,missense_variant,p.His692Tyr,ENST00000375022,;TRO,missense_variant,p.His692Tyr,ENST00000319167,;TRO,missense_variant,p.His295Tyr,ENST00000399736,;TRO,3_prime_UTR_variant,,ENST00000375041,;TRO,3_prime_UTR_variant,,ENST00000420798,;TRO,3_prime_UTR_variant,,ENST00000173898,;PFKFB1,downstream_gene_variant,,ENST00000545676,;PFKFB1,downstream_gene_variant,,ENST00000375006,;PFKFB1,downstream_gene_variant,,ENST00000374992,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,downstream_gene_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,3_prime_UTR_variant,,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,downstream_gene_variant,,ENST00000469211,;	4507	98	149	SUCCESS
BTBD11	121551	.	GRCh37	12	108051499	108051499	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	88	45	168	1	ENST00000280758.5:c.*4G>A			ENST00000280758	NM_001018072.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31893.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAACGCCTAG	NONE	.	.	.	.	.	ENSP00000280758	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000280758	Transcript	.	.	ENSG00000151136	23844	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BTBDB_HUMAN	BTBD11	HGNC	B3KY13_HUMAN,B3KXB0_HUMAN	.	UPI000051901E	SNV	BTBD11,3_prime_UTR_variant,,ENST00000280758,;BTBD11,3_prime_UTR_variant,,ENST00000357167,;BTBD11,downstream_gene_variant,,ENST00000494235,;BTBD11,downstream_gene_variant,,ENST00000420571,;	3847	169	133	SUCCESS
ATP5A1	0	.	GRCh37	18	43664244	43664244	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	rs781283368	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	16	60	0	ENST00000282050.2:c.*4C>G			ENST00000282050	NM_001001937.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11927.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CACAGGAGTTT	NONE	.	.	.	.	.	ENSP00000282050	.	13/13	.	.	.	.	.	.	.	.	rs781283368	13/13	PASS	ENST00000282050	Transcript	.	.	ENSG00000152234	823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ATPA_HUMAN	ATP5A1	HGNC	K7EQH4_HUMAN,K7ERX7_HUMAN,K7EK77_HUMAN,K7EJP1_HUMAN,B4DGW3_HUMAN	.	UPI000006221A	SNV	ATP5A1,3_prime_UTR_variant,,ENST00000282050,;ATP5A1,3_prime_UTR_variant,,ENST00000398752,;ATP5A1,3_prime_UTR_variant,,ENST00000593152,;ATP5A1,3_prime_UTR_variant,,ENST00000590665,;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000589252,;ATP5A1,3_prime_UTR_variant,,ENST00000590156,;ATP5A1,3_prime_UTR_variant,,ENST00000586592,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,downstream_gene_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000587902,;	1811	60	52	SUCCESS
ZNF845	91664	.	GRCh37	19	53857081	53857081	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	33	0	ENST00000458035.1:c.*240G>A			ENST00000458035	NM_138374.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46170.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTATAGGGAAA	NONE	.	.	.	.	.	ENSP00000388311	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000458035	Transcript	.	.	ENSG00000213799	25112	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN845_HUMAN	ZNF845	HGNC	M0R2N3_HUMAN,M0R0Z8_HUMAN	.	UPI0001662BAC	SNV	ZNF845,3_prime_UTR_variant,,ENST00000595091,;ZNF845,3_prime_UTR_variant,,ENST00000458035,;ZNF845,downstream_gene_variant,,ENST00000601857,;	3270	33	37	SUCCESS
ANKRD45	339416	.	GRCh37	1	173579110	173579110	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1033204136	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	6	24	0	ENST00000333279.2:c.*174G>A			ENST00000333279	NM_198493.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1309.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGGCGAGGC	NONE	.	.	.	.	.	ENSP00000331268	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000333279	Transcript	.	.	ENSG00000183831	24786	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ANR45_HUMAN	ANKRD45	HGNC	.	.	UPI000019851A	SNV	ANKRD45,3_prime_UTR_variant,,ENST00000333279,;RP3-436N22.3,intron_variant,,ENST00000431459,;	1036	24	29	SUCCESS
SS18L1	26039	.	GRCh37	20	60754500	60754500	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	3	17	0	ENST00000331758.3:c.*236C>T			ENST00000331758	NM_198935.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS13491.1	.	MUTECT|MUSE	.	CGGTACACGGA	NONE	.	.	.	.	.	ENSP00000333012	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000331758	Transcript	.	.	ENSG00000184402	15592	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CREST_HUMAN	SS18L1	HGNC	.	.	UPI000013543D	SNV	SS18L1,3_prime_UTR_variant,,ENST00000331758,;SS18L1,intron_variant,,ENST00000421564,;SS18L1,intron_variant,,ENST00000370848,;MTG2,upstream_gene_variant,,ENST00000436421,;MTG2,upstream_gene_variant,,ENST00000448254,;MTG2,upstream_gene_variant,,ENST00000536470,;MTG2,upstream_gene_variant,,ENST00000370823,;MTG2,upstream_gene_variant,,ENST00000471352,;MTG2,upstream_gene_variant,,ENST00000466933,;SS18L1,intron_variant,,ENST00000492466,;MTG2,upstream_gene_variant,,ENST00000467101,;	1453	17	15	SUCCESS
ZNF280B	140883	.	GRCh37	22	22842090	22842090	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	8	84	0	ENST00000360412.2:c.*2T>G			ENST00000360412	NM_080764.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS13799.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	ACTAGAATTAA	NONE	.	.	.	.	.	ENSP00000353586	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000360412	Transcript	.	.	ENSG00000198477	23022	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	Z280B_HUMAN	ZNF280B	HGNC	.	.	UPI000013FF86	SNV	ZNF280B,3_prime_UTR_variant,,ENST00000406426,;ZNF280B,3_prime_UTR_variant,,ENST00000360412,;	2410	84	62	SUCCESS
GPR35	2859	.	GRCh37	2	241570333	241570333	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs760379738	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	73	13	91	0	ENST00000319838.5:c.*34G>A			ENST00000319838	NM_001195381.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS56174.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GTCTCGGGGGC	NONE	.	.	.	.	.	ENSP00000415890	.	6/6	.	.	.	.	.	.	.	.	rs760379738	6/6	PASS	ENST00000438013	Transcript	.	.	ENSG00000178623	4492	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	GPR35_HUMAN	GPR35	HGNC	.	.	UPI0000E6291C	SNV	GPR35,3_prime_UTR_variant,,ENST00000430267,;GPR35,3_prime_UTR_variant,,ENST00000438013,;GPR35,3_prime_UTR_variant,,ENST00000319838,;GPR35,3_prime_UTR_variant,,ENST00000403859,;GPR35,downstream_gene_variant,,ENST00000407714,;	1778	91	87	SUCCESS
HTR4	3360	.	GRCh37	5	147862554	147862554	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	12	39	0	ENST00000377888.3:c.*212T>A			ENST00000377888	NM_000870.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34272.1	.	MUTECT|MUSE	.	TAAAAAGTGAA	NONE	.	.	.	.	.	ENSP00000353915	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000360693	Transcript	.	.	ENSG00000164270	5299	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	5HT4R_HUMAN	HTR4	HGNC	.	.	UPI00002323B1	SNV	HTR4,3_prime_UTR_variant,,ENST00000362016,;HTR4,3_prime_UTR_variant,,ENST00000360693,;HTR4,3_prime_UTR_variant,,ENST00000377888,;HTR4,intron_variant,,ENST00000521530,;HTR4,intron_variant,,ENST00000520514,;HTR4,intron_variant,,ENST00000517929,;HTR4,intron_variant,,ENST00000354217,;HTR4,intron_variant,,ENST00000314512,;HTR4,intron_variant,,ENST00000521735,;HTR4,3_prime_UTR_variant,,ENST00000524063,;HTR4,intron_variant,,ENST00000522588,;	1638	39	22	SUCCESS
GJA1	2697	.	GRCh37	6	121769237	121769237	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	75	43	130	1	ENST00000282561.3:c.*95G>T			ENST00000282561	NM_000165.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5123.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTGGAGGTGGT	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;	1401	131	119	SUCCESS
GJA1	2697	.	GRCh37	6	121770240	121770240	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	70	31	102	0	ENST00000282561.3:c.*1098T>G			ENST00000282561	NM_000165.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5123.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTCCTTTTTTT	NONE	.	.	.	.	.	ENSP00000282561	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000282561	Transcript	.	.	ENSG00000152661	4274	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CXA1_HUMAN	GJA1	HGNC	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN	.	UPI000013DCEC	SNV	GJA1,3_prime_UTR_variant,,ENST00000282561,;RNU4-35P,downstream_gene_variant,,ENST00000362588,;	2404	102	102	SUCCESS
PARK2	0	.	GRCh37	6	161771035	161771035	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs916630868	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	3	39	0	ENST00000366898.1:c.*96G>A			ENST00000366898	NM_004562.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5281.1	.	MUTECT|MUSE	.	GCGCGCGTGTG	NONE	.	.	.	.	.	ENSP00000355865	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000366898	Transcript	.	.	ENSG00000185345	8607	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PRKN2_HUMAN	PARK2	HGNC	M4T2U2_HUMAN,Q6S8G7_HUMAN,Q6Q2I8_HUMAN,Q5XNR7_HUMAN	.	UPI00003673FE	SNV	PARK2,3_prime_UTR_variant,,ENST00000366897,;PARK2,3_prime_UTR_variant,,ENST00000366896,;PARK2,3_prime_UTR_variant,,ENST00000366898,;PARK2,downstream_gene_variant,,ENST00000338468,;PARK2,downstream_gene_variant,,ENST00000366894,;PARK2,downstream_gene_variant,,ENST00000479615,;	1597	39	37	SUCCESS
MRRF	92399	.	GRCh37	9	125084992	125084992	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WQ-AB4B-01	TCGA-WQ-AB4B-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	6	68	0	ENST00000344641.3:c.*96A>G			ENST00000344641	NM_138777.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6840.1	.	MUTECT|MUSE	.	ACAGAAGACTG	NONE	.	.	.	.	.	ENSP00000343867	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000344641	Transcript	.	.	ENSG00000148187	7234	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RRFM_HUMAN	MRRF	HGNC	.	.	UPI000007291D	SNV	MRRF,3_prime_UTR_variant,,ENST00000373723,;MRRF,3_prime_UTR_variant,,ENST00000394315,;MRRF,3_prime_UTR_variant,,ENST00000344641,;MRRF,3_prime_UTR_variant,,ENST00000373729,;MRRF,3_prime_UTR_variant,,ENST00000297908,;RP11-498E2.7,upstream_gene_variant,,ENST00000602625,;MRRF,3_prime_UTR_variant,,ENST00000489572,;MRRF,downstream_gene_variant,,ENST00000470366,;	1196	68	34	SUCCESS
PPA1	5464	.	GRCh37	10	71962820	71962820	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	16	0	ENST00000373232.3:c.*91A>G			ENST00000373232	NM_021129.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7299.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ACAAATTTAAA	NONE	.	.	.	.	.	ENSP00000362329	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000373232	Transcript	.	.	ENSG00000180817	9226	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IPYR_HUMAN	PPA1	HGNC	.	.	UPI000012D838	SNV	PPA1,3_prime_UTR_variant,,ENST00000373232,;PPA1,downstream_gene_variant,,ENST00000610026,;RP11-367H5.8,upstream_gene_variant,,ENST00000435591,;	1061	16	15	SUCCESS
GNRHR2	114814	.	GRCh37	1	145509309	145509309	+	downstream_gene_variant	3'Flank	SNP	A	A	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	30	6	31	0				ENST00000469718				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS916.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TATTTAATCTC	NONE	.	.	.	.	.	ENSP00000333001	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330165	Transcript	.	.	ENSG00000131795	9905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RBM8A_HUMAN	RBM8A	HGNC	.	.	UPI0000004160	SNV	RBM8A,3_prime_UTR_variant,,ENST00000330165,;RBM8A,3_prime_UTR_variant,,ENST00000369307,;RP11-315I20.1,upstream_gene_variant,,ENST00000448561,;RP11-315I20.1,upstream_gene_variant,,ENST00000598103,;RP11-315I20.1,upstream_gene_variant,,ENST00000599147,;RP11-315I20.1,upstream_gene_variant,,ENST00000595494,;RP11-315I20.1,upstream_gene_variant,,ENST00000595518,;RP11-315I20.1,upstream_gene_variant,,ENST00000599469,;RP11-315I20.1,upstream_gene_variant,,ENST00000598354,;RP11-315I20.1,upstream_gene_variant,,ENST00000421764,;RP11-315I20.1,upstream_gene_variant,,ENST00000437797,;RP11-315I20.1,upstream_gene_variant,,ENST00000412239,;RP11-315I20.1,upstream_gene_variant,,ENST00000597144,;RP11-315I20.1,upstream_gene_variant,,ENST00000601726,;RP11-315I20.1,upstream_gene_variant,,ENST00000596355,;RP11-315I20.1,upstream_gene_variant,,ENST00000447686,;RP11-315I20.1,upstream_gene_variant,,ENST00000599626,;RP11-315I20.1,upstream_gene_variant,,ENST00000600340,;GNRHR2,downstream_gene_variant,,ENST00000361928,;GNRHR2,downstream_gene_variant,,ENST00000469718,;GNRHR2,downstream_gene_variant,,ENST00000312753,;RBM8A,downstream_gene_variant,,ENST00000484825,;RBM8A,downstream_gene_variant,,ENST00000498663,;GNRHR2,downstream_gene_variant,,ENST00000581100,;	692	31	37	SUCCESS
RP5-998N21.10	0	.	GRCh37	1	149398867	149398867	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs1280421246	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	164	34	110	0				ENST00000609879				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCGCCGGGCA	NONE	.	1264	.	.	.	ENSP00000476960	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000392948	Transcript	.	.	ENSG00000203818	32060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	HIST2H3PS2	HGNC	Q5TEC6_HUMAN	.	UPI0000470A88	SNV	HIST2H3PS2,downstream_gene_variant,,ENST00000392948,;RP5-998N21.7,upstream_gene_variant,,ENST00000444624,;HIST2H2BB,non_coding_transcript_exon_variant,,ENST00000609585,;RP5-998N21.10,downstream_gene_variant,,ENST00000609879,;HIST2H2BB,non_coding_transcript_exon_variant,,ENST00000449108,;	.	110	198	SUCCESS
ADIG	149685	.	GRCh37	20	37217066	37217066	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	119	52	162	0	ENST00000470147.1:c.*433G>T			ENST00000470147				0	.	.	.	.	.	T	.	nonsense_mediated_decay	YES	CCDS54461.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAGAAGCAAGG	NONE	.	.	.	.	.	ENSP00000434385	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000470147	Transcript	.	.	ENSG00000182035	28606	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADIG_HUMAN	ADIG	HGNC	.	.	UPI00005190EA	SNV	ADIG,missense_variant,p.Ala183Ser,ENST00000537425,;ADIG,missense_variant,p.Ala170Ser,ENST00000416116,;ADIG,downstream_gene_variant,,ENST00000373348,;ADIG,3_prime_UTR_variant,,ENST00000470147,;	732	162	171	SUCCESS
SLC5A3	6526	.	GRCh37	21	35473358	35473358	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	96	6	73	0	ENST00000381151.3:c.*3704T>G			ENST00000381151				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33549.1	.	MUTECT|MUSE	.	AGAGATGTATA	NONE	.	.	.	.	.	ENSP00000477068	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000608209	Transcript	.	.	ENSG00000272962	11038	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	SLC5A3	Uniprot_gn	.	.	UPI00001359F3	SNV	SLC5A3,3_prime_UTR_variant,,ENST00000608209,;SLC5A3,3_prime_UTR_variant,,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	6373	73	102	SUCCESS
TMPRSS2	7113	.	GRCh37	21	42837831	42837831	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	27	15	61	0	ENST00000398585.3:c.*238A>G			ENST00000398585	NM_001135099.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54486.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	GCCAGTGCCCA	NONE	.	.	.	.	.	ENSP00000381588	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000398585	Transcript	.	.	ENSG00000184012	11876	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TMPS2_HUMAN	TMPRSS2	HGNC	C9JKZ3_HUMAN,C9JB05_HUMAN	.	UPI00019D3EE0	SNV	TMPRSS2,3_prime_UTR_variant,,ENST00000398585,;TMPRSS2,3_prime_UTR_variant,,ENST00000332149,;TMPRSS2,downstream_gene_variant,,ENST00000454499,;TMPRSS2,downstream_gene_variant,,ENST00000458356,;TMPRSS2,non_coding_transcript_exon_variant,,ENST00000488556,;TMPRSS2,downstream_gene_variant,,ENST00000469395,;	1889	61	42	SUCCESS
PCDHB11	56125	.	GRCh37	5	140581863	140581863	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	46	1	ENST00000354757.3:c.*122T>A			ENST00000354757	NM_018931.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4253.1	.	MUTECT|MUSE	.	TTTCTTTTCTC	NONE	.	.	.	.	.	ENSP00000346802	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000354757	Transcript	.	.	ENSG00000197479	8682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PCDBB_HUMAN	PCDHB11	HGNC	B4DSF7_HUMAN	.	UPI00001273E6	SNV	PCDHB11,3_prime_UTR_variant,,ENST00000354757,;PCDHB11,downstream_gene_variant,,ENST00000536699,;	2516	47	44	SUCCESS
BTN3A2	11118	.	GRCh37	6	26376218	26376218	+	intron_variant	Intron	SNP	A	A	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	18	44	0	ENST00000356386.2:c.*35-539A>T			ENST00000356386	NM_007047.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4605.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCACAAGGTCA	NONE	.	.	.	.	.	ENSP00000348751	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000356386	Transcript	.	.	ENSG00000186470	1139	.	.	MODIFIER	10/10	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BT3A2_HUMAN	BTN3A2	HGNC	E9PRX1_HUMAN,E9PRR1_HUMAN	.	UPI000006E484	SNV	BTN3A2,3_prime_UTR_variant,,ENST00000508906,;BTN3A2,3_prime_UTR_variant,,ENST00000377708,;BTN3A2,intron_variant,,ENST00000356386,;BTN3A2,downstream_gene_variant,,ENST00000396934,;BTN3A2,downstream_gene_variant,,ENST00000527639,;BTN3A2,downstream_gene_variant,,ENST00000527417,;BTN3A2,downstream_gene_variant,,ENST00000527422,;BTN3A2,downstream_gene_variant,,ENST00000396948,;BTN3A2,downstream_gene_variant,,ENST00000524682,;BTN3A2,downstream_gene_variant,,ENST00000532627,;BTN3A2,downstream_gene_variant,,ENST00000532994,;BTN3A2,downstream_gene_variant,,ENST00000604202,;BTN3A2,downstream_gene_variant,,ENST00000532294,;BTN3A2,downstream_gene_variant,,ENST00000531055,;	.	44	61	SUCCESS
HSPA1L	3305	.	GRCh37	6	31777778	31777778	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	11	66	0	ENST00000375654.4:c.*46C>T			ENST00000375654	NM_005527.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34413.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGAAATA	NONE	.	.	.	.	.	ENSP00000364805	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000375654	Transcript	.	.	ENSG00000204390	5234	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HS71L_HUMAN	HSPA1L	HGNC	.	.	UPI000012CC97	SNV	HSPA1L,3_prime_UTR_variant,,ENST00000375654,;HSPA1L,downstream_gene_variant,,ENST00000417199,;LSM2,upstream_gene_variant,,ENST00000375661,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000475835,;	2162	66	42	SUCCESS
RLN2	6019	.	GRCh37	9	5299951	5299951	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	6	11	13	0	ENST00000381627.3:c.*147A>G			ENST00000381627	NM_134441.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6460.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GATGTTTAGAT	NONE	.	.	.	.	.	ENSP00000371040	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000381627	Transcript	.	.	ENSG00000107014	10027	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	REL2_HUMAN	RLN2	HGNC	.	.	UPI000002C1A0	SNV	RLN2,3_prime_UTR_variant,,ENST00000416837,;RLN2,3_prime_UTR_variant,,ENST00000308420,;RLN2,3_prime_UTR_variant,,ENST00000381627,;	1094	13	17	SUCCESS
FOXD4L3	286380	.	GRCh37	9	70919425	70919425	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	36	11	41	0	ENST00000342833.2:c.*304C>A			ENST00000342833	NM_199135.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43833.1	.	RADIA|VARSCANS	.	GTAACCTTCGC	NONE	.	.	.	.	.	ENSP00000341961	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000342833	Transcript	.	.	ENSG00000187559	18523	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FX4L3_HUMAN	FOXD4L3	HGNC	Q8WTR0_HUMAN	.	UPI0000367635	SNV	FOXD4L3,3_prime_UTR_variant,,ENST00000342833,;CBWD3,downstream_gene_variant,,ENST00000377342,;CBWD3,downstream_gene_variant,,ENST00000360171,;RP11-561O23.5,upstream_gene_variant,,ENST00000603050,;RP11-561O23.7,upstream_gene_variant,,ENST00000419576,;CBWD3,downstream_gene_variant,,ENST00000377344,;	2150	41	47	SUCCESS
DOCK11	139818	.	GRCh37	X	117819934	117819934	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	35	15	46	0	ENST00000276202.7:c.*164T>A			ENST00000276202	NM_144658.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS35373.1	.	MUTECT|MUSE	.	GCAACTTGAAA	NONE	.	.	.	.	.	ENSP00000276202	.	53/53	.	.	.	.	.	.	.	.	.	53/53	PASS	ENST00000276202	Transcript	.	.	ENSG00000147251	23483	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DOC11_HUMAN	DOCK11	HGNC	B3KNP4_HUMAN	.	UPI000022DB8F	SNV	DOCK11,3_prime_UTR_variant,,ENST00000276204,;DOCK11,3_prime_UTR_variant,,ENST00000276202,;	6449	46	50	SUCCESS
CSAG1	158511	.	GRCh37	X	151909240	151909240	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WX-AA44-01	TCGA-WX-AA44-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	387	150	499	1	ENST00000370287.3:c.*32G>T			ENST00000370287	NM_153478.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS14711.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAATGGAGTG	NONE	.	.	.	.	.	ENSP00000359310	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370287	Transcript	.	.	ENSG00000198930	24294	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CSAG1_HUMAN	CSAG1	HGNC	.	.	UPI000015FDBE	SNV	CSAG1,3_prime_UTR_variant,,ENST00000370287,;CSAG1,3_prime_UTR_variant,,ENST00000452779,;CSAG1,3_prime_UTR_variant,,ENST00000370291,;CSAG1,3_prime_UTR_variant,,ENST00000361211,;	597	500	538	SUCCESS
PPP2R2D	55844	.	GRCh37	10	133769472	133769472	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs184828514	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	74	7	76	0	ENST00000455566.1:c.*5G>A			ENST00000455566	NM_018461.3			0	A:0.0016	A:0.0023	.	A:0.0014	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE|VARSCANS	.	GAGACGCGAAC	NONE	byFrequency|byCluster|by1000G	.	.	A:0	A:0	ENSP00000399970	A:0	7/7	.	.	.	.	.	.	.	.	rs184828514	7/7	PASS	ENST00000455566	Transcript	.	A:0.0008	ENSG00000175470	23732	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	A:0	.	.	2ABD_HUMAN	PPP2R2D	HGNC	Q6IN90_HUMAN,B3KMA9_HUMAN	.	UPI000013EC98	SNV	PPP2R2D,3_prime_UTR_variant,,ENST00000455566,;PPP2R2D,3_prime_UTR_variant,,ENST00000422256,;PPP2R2D,downstream_gene_variant,,ENST00000470416,;PPP2R2D,3_prime_UTR_variant,,ENST00000482010,;PPP2R2D,non_coding_transcript_exon_variant,,ENST00000490777,;	1274	76	81	SUCCESS
NRXN3	9369	.	GRCh37	14	80328356	80328356	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs557691161	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	81	5	74	0	ENST00000557594.1:c.*49C>T			ENST00000557594				0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS9870.1	.	MUTECT|MUSE	.	ATCCACGCCTA	NONE	by1000G	.	.	T:0	.	ENSP00000451648	T:0	17/17	.	.	.	.	.	.	.	.	rs557691161	17/17	PASS	ENST00000554719	Transcript	.	T:0.0002	ENSG00000021645	8010	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	T:0	.	.	NRX3A_HUMAN	NRXN3	HGNC	G3V4R9_HUMAN,G3V247_HUMAN	.	UPI0000167BBA	SNV	NRXN3,3_prime_UTR_variant,,ENST00000554719,;NRXN3,3_prime_UTR_variant,,ENST00000281127,;NRXN3,3_prime_UTR_variant,,ENST00000557594,;NRXN3,3_prime_UTR_variant,,ENST00000428277,;NRXN3,downstream_gene_variant,,ENST00000335750,;NRXN3,downstream_gene_variant,,ENST00000556003,;NRXN3,3_prime_UTR_variant,,ENST00000555387,;NRXN3,3_prime_UTR_variant,,ENST00000554738,;	3726	74	86	SUCCESS
TAT	6898	.	GRCh37	16	71601983	71601983	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	50	0	ENST00000355962.4:c.*64C>G			ENST00000355962	NM_000353.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10903.1	.	MUTECT|MUSE	.	CTGAGGAGCCG	NONE	.	.	.	.	.	ENSP00000348234	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000355962	Transcript	.	.	ENSG00000198650	11573	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATTY_HUMAN	TAT	HGNC	.	.	UPI0000126636	SNV	TAT,3_prime_UTR_variant,,ENST00000355962,;ZNF19,upstream_gene_variant,,ENST00000566202,;RNU6-1061P,upstream_gene_variant,,ENST00000516530,;RP11-432I5.1,intron_variant,,ENST00000561529,;ZNF19,upstream_gene_variant,,ENST00000568446,;TAT,non_coding_transcript_exon_variant,,ENST00000564007,;	1563	50	48	SUCCESS
PEX11B	8799	.	GRCh37	1	145522971	145522971	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	3	25	0	ENST00000369306.3:c.*52G>T			ENST00000369306	NM_003846.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS917.1	.	MUTECT|MUSE	.	TCTTAGATCGT	NONE	.	.	.	.	.	ENSP00000358312	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000369306	Transcript	.	.	ENSG00000131779	8853	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PX11B_HUMAN	PEX11B	HGNC	H7C3V6_HUMAN,B3KSS3_HUMAN	.	UPI0000073D3A	SNV	PEX11B,3_prime_UTR_variant,,ENST00000369306,;PEX11B,3_prime_UTR_variant,,ENST00000537888,;PEX11B,intron_variant,,ENST00000428634,;ITGA10,upstream_gene_variant,,ENST00000538811,;ITGA10,upstream_gene_variant,,ENST00000539363,;ITGA10,upstream_gene_variant,,ENST00000369304,;ITGA10,upstream_gene_variant,,ENST00000468261,;	981	25	34	SUCCESS
FGG	2266	.	GRCh37	4	155525436	155525436	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	353	27	332	0				ENST00000336098	NM_021870.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3788.1	.	MUTECT|MUSE	.	ATTATATCTCT	NONE	.	292	.	.	.	ENSP00000336829	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000336098	Transcript	1	.	ENSG00000171557	3694	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FIBG_HUMAN	FGG	HGNC	C9JU00_HUMAN,C9JPQ9_HUMAN	.	UPI000012A78D	SNV	FGG,3_prime_UTR_variant,,ENST00000404648,;FGG,3_prime_UTR_variant,,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000407946,;FGG,downstream_gene_variant,,ENST00000336098,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;	.	333	380	SUCCESS
C6orf120	387263	.	GRCh37	6	170103214	170103214	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	102	28	130	0	ENST00000332290.2:c.*83G>T			ENST00000332290	NM_001029863.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34575.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TACTTGGTTGA	NONE	.	.	.	.	.	ENSP00000346931	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000332290	Transcript	.	.	ENSG00000185127	21247	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CF120_HUMAN	C6orf120	HGNC	.	.	UPI00001B3E93	SNV	C6orf120,3_prime_UTR_variant,,ENST00000439249,;C6orf120,3_prime_UTR_variant,,ENST00000332290,;WDR27,upstream_gene_variant,,ENST00000420344,;WDR27,upstream_gene_variant,,ENST00000333572,;PHF10,downstream_gene_variant,,ENST00000366780,;WDR27,upstream_gene_variant,,ENST00000474018,;WDR27,upstream_gene_variant,,ENST00000448612,;PHF10,downstream_gene_variant,,ENST00000339209,;WDR27,upstream_gene_variant,,ENST00000423258,;WDR27,upstream_gene_variant,,ENST00000546953,;PHF10,downstream_gene_variant,,ENST00000480008,;	958	130	130	SUCCESS
RASEF	158158	.	GRCh37	9	85597420	85597420	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-WX-AA46-01	TCGA-WX-AA46-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	9	0	ENST00000376447.3:c.*172G>T			ENST00000376447	NM_152573.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6662.1	.	MUTECT|MUSE	.	CAAAACAAAGA	NONE	.	.	.	.	.	ENSP00000365630	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000376447	Transcript	.	.	ENSG00000165105	26464	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RASEF_HUMAN	RASEF	HGNC	.	.	UPI0000074189	SNV	RASEF,3_prime_UTR_variant,,ENST00000376447,;	2656	9	13	SUCCESS
CBFB	865	.	GRCh37	16	67132744	67132744	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	54	3	46	0	ENST00000412916.2:c.*63A>G			ENST00000412916				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45508.1	.	MUTECT|MUSE	.	CAGAAATAATT	NONE	.	.	.	.	.	ENSP00000415151	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000412916	Transcript	.	.	ENSG00000067955	1539	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PEBB_HUMAN	CBFB	HGNC	J3KRT0_HUMAN	.	UPI0000072C72	SNV	CBFB,3_prime_UTR_variant,,ENST00000565389,;CBFB,3_prime_UTR_variant,,ENST00000290858,;CBFB,3_prime_UTR_variant,,ENST00000412916,;CBFB,downstream_gene_variant,,ENST00000561924,;CBFB,non_coding_transcript_exon_variant,,ENST00000568858,;CBFB,non_coding_transcript_exon_variant,,ENST00000566281,;	790	46	57	SUCCESS
C19orf53	28974	.	GRCh37	19	13889093	13889093	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	69	21	43	0	ENST00000588234.1:c.*81G>T			ENST00000588234	NM_014047.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12298.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCACTGTCAGG	NONE	.	.	.	.	.	ENSP00000465432	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000588234	Transcript	.	.	ENSG00000104979	24991	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	L10K_HUMAN	C19orf53	HGNC	.	.	UPI000012E181	SNV	C19orf53,3_prime_UTR_variant,,ENST00000593274,;C19orf53,3_prime_UTR_variant,,ENST00000588234,;C19orf53,3_prime_UTR_variant,,ENST00000221576,;AC008686.1,downstream_gene_variant,,ENST00000397557,;MRI1,downstream_gene_variant,,ENST00000319545,;CTB-5E10.3,upstream_gene_variant,,ENST00000586894,;CTB-5E10.3,upstream_gene_variant,,ENST00000591826,;CTB-5E10.3,upstream_gene_variant,,ENST00000586297,;C19orf53,3_prime_UTR_variant,,ENST00000588841,;C19orf53,3_prime_UTR_variant,,ENST00000588858,;C19orf53,downstream_gene_variant,,ENST00000592760,;	691	43	90	SUCCESS
TRIM71	131405	.	GRCh37	3	32933440	32933440	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1239818666	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	15	0	ENST00000383763.5:c.*137A>T			ENST00000383763	NM_001039111.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS43060.1	.	MUTECT|MUSE	.	TTTTTAAAGAG	NONE	.	.	.	.	.	ENSP00000373272	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000383763	Transcript	.	.	ENSG00000206557	32669	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LIN41_HUMAN	TRIM71	HGNC	.	.	UPI000067CB89	SNV	TRIM71,3_prime_UTR_variant,,ENST00000383763,;	2807	15	19	SUCCESS
EDIL3	10085	.	GRCh37	5	83239159	83239159	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-WX-AA47-01	TCGA-WX-AA47-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	23	43	43	0	ENST00000296591.5:c.*79G>T			ENST00000296591	NM_005711.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4062.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGTTTCCTACA	NONE	.	.	.	.	.	ENSP00000296591	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000296591	Transcript	.	.	ENSG00000164176	3173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EDIL3_HUMAN	EDIL3	HGNC	.	.	UPI000004D126	SNV	EDIL3,3_prime_UTR_variant,,ENST00000296591,;EDIL3,3_prime_UTR_variant,,ENST00000380138,;	1941	43	66	SUCCESS
MS4A6A	64231	.	GRCh37	11	59939536	59939536	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	10	25	0	ENST00000530839.1:c.*95G>T			ENST00000530839	NM_152852.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58134.1	.	MUTECT|MUSE	.	GCTTACATTTA	NONE	.	434	.	.	.	ENSP00000403212	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000412309	Transcript	.	.	ENSG00000110077	13375	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	MS4A6A	HGNC	F8W9K1_HUMAN,E9PNG6_HUMAN,E9PMN8_HUMAN,E9PL03_HUMAN	.	UPI0001F77AB4	SNV	MS4A6A,3_prime_UTR_variant,,ENST00000323961,;MS4A6A,3_prime_UTR_variant,,ENST00000528851,;MS4A6A,3_prime_UTR_variant,,ENST00000530839,;MS4A6A,3_prime_UTR_variant,,ENST00000529054,;MS4A6A,3_prime_UTR_variant,,ENST00000420732,;MS4A6A,3_prime_UTR_variant,,ENST00000533989,;MS4A6A,downstream_gene_variant,,ENST00000533023,;MS4A6A,downstream_gene_variant,,ENST00000412309,;MS4A6A,downstream_gene_variant,,ENST00000426738,;MS4A6A,downstream_gene_variant,,ENST00000529906,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000527254,;	.	25	22	SUCCESS
ABHD13	84945	.	GRCh37	13	108885203	108885203	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs566433238	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	159	94	326	1	ENST00000375898.3:c.*2623A>G			ENST00000375898	NM_032859.2			0	.	C:0	.	C:0	.	G	.	protein_coding	YES	CCDS32007.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGAAGAAAT	NONE	by1000G	.	.	C:0	.	ENSP00000365063	C:0	2/2	.	.	.	.	.	.	.	.	rs566433238	2/2	PASS	ENST00000375898	Transcript	.	C:0.0002	ENSG00000139826	20293	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	C:0.001	.	.	ABHDD_HUMAN	ABHD13	HGNC	.	.	UPI00003B5D51	SNV	ABHD13,3_prime_UTR_variant,,ENST00000375898,;	3938	328	253	SUCCESS
ATXN1L	342371	.	GRCh37	16	71886604	71886604	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	3	52	0	ENST00000427980.2:c.*891T>C			ENST00000427980	NM_001137675.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45523.1	.	MUTECT|MUSE	.	GACCCTTTTTC	NONE	.	.	.	.	.	ENSP00000415822	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000427980	Transcript	.	.	ENSG00000224470	33279	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ATX1L_HUMAN	ATXN1L	HGNC	G1UI23_HUMAN	.	UPI0000198982	SNV	ATXN1L,3_prime_UTR_variant,,ENST00000427980,;IST1,intron_variant,,ENST00000568581,;ATXN1L,intron_variant,,ENST00000569119,;ATXN1L,downstream_gene_variant,,ENST00000565676,;	3254	52	50	SUCCESS
TNR	7143	.	GRCh37	1	175292473	175292473	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-XR-A8TE-01	TCGA-XR-A8TE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	50	48	83	0	ENST00000263525.2:c.*20C>T			ENST00000263525	NM_003285.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1318.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGTTGGCTTG	NONE	.	.	.	.	.	ENSP00000356646	.	23/23	.	.	.	.	.	.	.	.	.	23/23	PASS	ENST00000367674	Transcript	.	.	ENSG00000116147	11953	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TENR_HUMAN	TNR	HGNC	A1L306_HUMAN	.	UPI000013D41C	SNV	TNR,3_prime_UTR_variant,,ENST00000367674,;TNR,3_prime_UTR_variant,,ENST00000263525,;RP3-518E13.2,intron_variant,,ENST00000569593,;	4806	83	98	SUCCESS
NAV2	89797	.	GRCh37	11	19735132	19735132	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	52	3	62	0				ENST00000396087	NM_001244963.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS58126.1	.	MUTECT|MUSE	.	TGGGCGCCTCG	NONE	.	11	.	.	.	ENSP00000379396	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000396087	Transcript	.	.	ENSG00000166833	15997	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NAV2_HUMAN	NAV2	HGNC	.	.	UPI00001E0580	SNV	NAV2,5_prime_UTR_variant,,ENST00000396085,;NAV2,5_prime_UTR_variant,,ENST00000349880,;NAV2,intron_variant,,ENST00000360655,;NAV2,upstream_gene_variant,,ENST00000396087,;RP11-359E10.1,upstream_gene_variant,,ENST00000603468,;	.	62	55	SUCCESS
MUC19	283463	.	GRCh37	12	40938900	40938900	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	237	58	279	0	ENST00000454784.4:c.*6133+1G>C			ENST00000454784				0	.	.	.	.	.	C	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACAGGTGAGC	NONE	.	.	.	.	.	ENSP00000476404	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000454784	Transcript	.	.	ENSG00000205592	14362	.	.	HIGH	56/83	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	MUC19	HGNC	C9JCE7_HUMAN	.	UPI0003B927DE	SNV	MUC19,splice_donor_variant,,ENST00000454784,;MUC19,downstream_gene_variant,,ENST00000424466,;MUC19,splice_donor_variant,,ENST00000492952,;MUC19,splice_donor_variant,,ENST00000460785,;MUC19,splice_donor_variant,,ENST00000380816,;MUC19,splice_donor_variant,,ENST00000541039,;	.	279	296	SUCCESS
KCNA1	3736	.	GRCh37	12	5024134	5024134	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs778949051	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	73	71	137	0	ENST00000382545.3:c.*2102C>T			ENST00000382545	NM_000217.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8535.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATCTCTCTGA	NONE	.	.	.	.	.	ENSP00000371985	.	2/2	.	.	.	.	.	.	.	.	rs778949051	2/2	PASS	ENST00000382545	Transcript	.	.	ENSG00000111262	6218	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KCNA1_HUMAN	KCNA1	HGNC	.	.	UPI000013C8E0	SNV	KCNA1,3_prime_UTR_variant,,ENST00000382545,;KCNA1,intron_variant,,ENST00000541095,;KCNA1,intron_variant,,ENST00000543874,;	4697	137	145	SUCCESS
EPYC	1833	.	GRCh37	12	91357855	91357855	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs1386759539	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	46	74	0	ENST00000261172.3:c.*78C>A			ENST00000261172	NM_004950.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31870.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	ATCATGCTGAG	NONE	.	.	.	.	.	ENSP00000261172	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000261172	Transcript	.	.	ENSG00000083782	3053	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	EPYC_HUMAN	EPYC	HGNC	F8VSI4_HUMAN	.	UPI000013D136	SNV	EPYC,3_prime_UTR_variant,,ENST00000261172,;	1140	74	93	SUCCESS
IMP3	55272	.	GRCh37	15	75931953	75931953	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1350403049	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	14	103	0	ENST00000314852.2:c.*2G>A			ENST00000314852				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS10282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGATCCGCTAG	NONE	.	.	.	.	.	ENSP00000326981	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314852	Transcript	.	.	ENSG00000177971	14497	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IMP3_HUMAN	IMP3	HGNC	Q96Q46_HUMAN	.	UPI0000037BF5	SNV	IMP3,3_prime_UTR_variant,,ENST00000403490,;IMP3,3_prime_UTR_variant,,ENST00000314852,;CTD-2026K11.2,downstream_gene_variant,,ENST00000564683,;IMP3,downstream_gene_variant,,ENST00000565349,;	1501	103	75	SUCCESS
ANKRD34C	390616	.	GRCh37	15	79589227	79589227	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	58	143	0	ENST00000421388.2:c.*1993T>A			ENST00000421388	NM_001146341.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS53965.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTGTATGGAAA	NONE	.	.	.	.	.	ENSP00000401089	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000421388	Transcript	.	.	ENSG00000235711	33888	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AN34C_HUMAN	ANKRD34C	HGNC	.	.	UPI0000160A7F	SNV	ANKRD34C,3_prime_UTR_variant,,ENST00000421388,;ANKRD34C,downstream_gene_variant,,ENST00000558647,;	4070	143	110	SUCCESS
GJD3	125111	.	GRCh37	17	38520920	38520920	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	31	12	48	0				ENST00000578689	NM_152219.3			0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGACCGGCGCC	NONE	.	.	.	.	.	ENSP00000462786	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000578774	Transcript	.	.	ENSG00000266208	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	CTD-2267D19.3	Clone_based_vega_gene	J3KT39_HUMAN	.	UPI0000D47800	SNV	CTD-2267D19.3,3_prime_UTR_variant,,ENST00000578774,;GJD3,upstream_gene_variant,,ENST00000337376,;GJD3,upstream_gene_variant,,ENST00000578689,;CTD-2267D19.4,upstream_gene_variant,,ENST00000583752,;	2069	48	43	SUCCESS
ZNF525	170958	.	GRCh37	19	53887408	53887408	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	18	0				ENST00000355326				0	.	.	.	.	.	T	.	protein_coding	YES	.	.	MUTECT|MUSE	.	ACATTGAGTTC	NONE	.	.	.	.	.	ENSP00000417696	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000474037	Transcript	.	.	ENSG00000203326	29423	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	ZNF525	HGNC	J3KR62_HUMAN,J3KR51_HUMAN	.	UPI0000EE700C	SNV	ZNF525,3_prime_UTR_variant,,ENST00000474037,;ZNF525,3_prime_UTR_variant,,ENST00000467003,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,downstream_gene_variant,,ENST00000355326,;ZNF525,intron_variant,,ENST00000601790,;ZNF525,downstream_gene_variant,,ENST00000600148,;CTD-3141N22.1,upstream_gene_variant,,ENST00000459631,;	3710	18	16	SUCCESS
GNRHR2	114814	.	GRCh37	1	145510975	145510975	+	downstream_gene_variant	3'Flank	SNP	C	C	G	rs1553755373	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	146	76	173	0				ENST00000469718				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS916.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTCCCCTCACC	NONE	.	.	.	.	.	ENSP00000333001	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000330165	Transcript	.	.	ENSG00000131795	9905	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RBM8A_HUMAN	RBM8A	HGNC	.	.	UPI0000004160	SNV	RBM8A,3_prime_UTR_variant,,ENST00000330165,;RBM8A,downstream_gene_variant,,ENST00000369307,;RP11-315I20.1,upstream_gene_variant,,ENST00000448561,;RP11-315I20.1,upstream_gene_variant,,ENST00000598103,;RP11-315I20.1,upstream_gene_variant,,ENST00000599147,;RP11-315I20.1,upstream_gene_variant,,ENST00000595494,;RP11-315I20.1,upstream_gene_variant,,ENST00000595518,;RP11-315I20.1,upstream_gene_variant,,ENST00000599469,;RP11-315I20.1,upstream_gene_variant,,ENST00000598354,;RP11-315I20.1,upstream_gene_variant,,ENST00000421764,;RP11-315I20.1,upstream_gene_variant,,ENST00000437797,;RP11-315I20.1,upstream_gene_variant,,ENST00000412239,;RP11-315I20.1,upstream_gene_variant,,ENST00000597144,;RP11-315I20.1,upstream_gene_variant,,ENST00000601726,;RP11-315I20.1,upstream_gene_variant,,ENST00000596355,;RP11-315I20.1,upstream_gene_variant,,ENST00000447686,;RP11-315I20.1,upstream_gene_variant,,ENST00000599626,;RP11-315I20.1,upstream_gene_variant,,ENST00000600340,;GNRHR2,intron_variant,,ENST00000361928,;GNRHR2,intron_variant,,ENST00000312753,;GNRHR2,downstream_gene_variant,,ENST00000604273,;GNRHR2,downstream_gene_variant,,ENST00000469718,;RBM8A,downstream_gene_variant,,ENST00000484825,;RBM8A,downstream_gene_variant,,ENST00000498663,;GNRHR2,intron_variant,,ENST00000581100,;	2358	173	222	SUCCESS
MDH1B	130752	.	GRCh37	2	207603174	207603174	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	195	15	209	0	ENST00000374412.3:c.*33G>C			ENST00000374412	NM_001039845.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33365.1	.	MUTECT|MUSE	.	GCTATCAAGTA	NONE	.	.	.	.	.	ENSP00000363533	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000374412	Transcript	.	.	ENSG00000138400	17836	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MDH1B_HUMAN	MDH1B	HGNC	C9JER5_HUMAN,B4DY40_HUMAN	.	UPI00001D7E19	SNV	MDH1B,3_prime_UTR_variant,,ENST00000454776,;MDH1B,3_prime_UTR_variant,,ENST00000374412,;MDH1B,3_prime_UTR_variant,,ENST00000449792,;MDH1B,downstream_gene_variant,,ENST00000392214,;MDH1B,3_prime_UTR_variant,,ENST00000432911,;MDH1B,downstream_gene_variant,,ENST00000436472,;	1866	209	210	SUCCESS
SOX11	6664	.	GRCh37	2	5836047	5836047	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	41	75	0	ENST00000322002.3:c.*1868C>T			ENST00000322002	NM_003108.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1654.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTGCCTCTTC	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	3249	75	66	SUCCESS
H2AFY	0	.	GRCh37	5	134670600	134670600	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	93	29	130	0	ENST00000511689.1:c.*66C>G			ENST00000511689	NM_138610.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4185.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	GAAGGGGATTT	NONE	.	.	.	.	.	ENSP00000423563	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000511689	Transcript	.	.	ENSG00000113648	4740	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	H2AY_HUMAN	H2AFY	HGNC	.	.	UPI00000723ED	SNV	H2AFY,3_prime_UTR_variant,,ENST00000423969,;H2AFY,3_prime_UTR_variant,,ENST00000304332,;H2AFY,3_prime_UTR_variant,,ENST00000312469,;H2AFY,3_prime_UTR_variant,,ENST00000511689,;C5orf66,intron_variant,,ENST00000432382,;H2AFY,downstream_gene_variant,,ENST00000510038,;C5orf66,upstream_gene_variant,,ENST00000555438,;H2AFY,non_coding_transcript_exon_variant,,ENST00000451949,;H2AFY,non_coding_transcript_exon_variant,,ENST00000512507,;H2AFY,non_coding_transcript_exon_variant,,ENST00000360597,;C5orf66,intron_variant,,ENST00000513931,;H2AFY,3_prime_UTR_variant,,ENST00000506671,;H2AFY,non_coding_transcript_exon_variant,,ENST00000511494,;H2AFY,downstream_gene_variant,,ENST00000505827,;	1779	130	122	SUCCESS
CDKN1A	1026	.	GRCh37	6	36653724	36653724	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	16	13	0	ENST00000244741.5:c.*147C>G			ENST00000244741	NM_000389.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4824.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CGCCCCCTGCC	NONE	.	.	.	.	.	ENSP00000384849	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000405375	Transcript	.	.	ENSG00000124762	1784	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDN1A_HUMAN	CDKN1A	HGNC	.	.	UPI0000048F7B	SNV	CDKN1A,3_prime_UTR_variant,,ENST00000244741,;CDKN1A,3_prime_UTR_variant,,ENST00000448526,;CDKN1A,3_prime_UTR_variant,,ENST00000405375,;CDKN1A,downstream_gene_variant,,ENST00000373711,;CDKN1A,downstream_gene_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000478800,;	877	13	22	SUCCESS
ABCB8	11194	.	GRCh37	7	150721491	150721491	+	upstream_gene_variant	5'Flank	SNP	C	C	A	rs374984486	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	28	23	51	0				ENST00000297504	NM_001282291.1	7		0	.	.	.	.	.	A	W/L	protein_coding	YES	.	20	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCCCAGCCC	BUFFER|p.R10fs*139|c.27_28insG|5	.	.	Low_complexity_(Seg):seg,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038	.	.	ENSP00000475005	.	1/18	.	.	.	.	.	.	.	.	.	1/18	PASS	ENST00000377974	Transcript	.	.	ENSG00000181652	21899	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.08)	.	.	ATG9B	HGNC	S4R430_HUMAN	.	UPI00015E055A	SNV	ATG9B,missense_variant,p.Trp7Leu,ENST00000605938,;ATG9B,missense_variant,p.Trp7Leu,ENST00000377974,;ATG9B,missense_variant,p.Trp7Leu,ENST00000605952,;ATG9B,5_prime_UTR_variant,,ENST00000444312,;ABCB8,upstream_gene_variant,,ENST00000356058,;ABCB8,upstream_gene_variant,,ENST00000297504,;ABCB8,upstream_gene_variant,,ENST00000498578,;ABCB8,upstream_gene_variant,,ENST00000358849,;ABCB8,upstream_gene_variant,,ENST00000477092,;ABCB8,upstream_gene_variant,,ENST00000461373,;ABCB8,upstream_gene_variant,,ENST00000542328,;ABCB8,upstream_gene_variant,,ENST00000477719,;RP11-148K1.10,downstream_gene_variant,,ENST00000479085,;ATG9B,non_coding_transcript_exon_variant,,ENST00000494791,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,intron_variant,,ENST00000466157,;ATG9B,intron_variant,,ENST00000486407,;ABCB8,upstream_gene_variant,,ENST00000469410,;ABCB8,upstream_gene_variant,,ENST00000472698,;ATG9B,upstream_gene_variant,,ENST00000473698,;ABCB8,upstream_gene_variant,,ENST00000488370,;ABCB8,upstream_gene_variant,,ENST00000471796,;ABCB8,upstream_gene_variant,,ENST00000488826,;ABCB8,upstream_gene_variant,,ENST00000466956,;ABCB8,upstream_gene_variant,,ENST00000488551,;ABCB8,upstream_gene_variant,,ENST00000470645,;ABCB8,upstream_gene_variant,,ENST00000466514,;ABCB8,upstream_gene_variant,,ENST00000482309,;ATG9B,upstream_gene_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000489192,;ABCB8,upstream_gene_variant,,ENST00000462605,;	96	51	51	SUCCESS
AZIN1	51582	.	GRCh37	8	103840624	103840624	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs570208461	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	9	22	29	0	ENST00000337198.5:c.*171A>G			ENST00000337198	NM_148174.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6295.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCCAATGAATT	NONE	.	.	.	.	.	ENSP00000337180	.	12/12	.	.	.	.	.	.	.	.	rs570208461	12/12	PASS	ENST00000337198	Transcript	.	.	ENSG00000155096	16432	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AZIN1_HUMAN	AZIN1	HGNC	E5RJ16_HUMAN,E5RIB7_HUMAN	.	UPI00000722AD	SNV	AZIN1,3_prime_UTR_variant,,ENST00000347770,;AZIN1,3_prime_UTR_variant,,ENST00000337198,;AZIN1,downstream_gene_variant,,ENST00000518697,;	2682	29	31	SUCCESS
KIAA1456	0	.	GRCh37	8	12884149	12884149	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	69	99	186	0	ENST00000524591.2:c.*4596C>A			ENST00000524591	NM_020844.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS47808.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGTTCCCATT	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	6450	186	169	SUCCESS
KIAA1456	0	.	GRCh37	8	12884178	12884178	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	65	83	183	0	ENST00000524591.2:c.*4625A>T			ENST00000524591	NM_020844.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS47808.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAGGCAGAAAG	NONE	.	.	.	.	.	ENSP00000432695	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000524591	Transcript	.	.	ENSG00000250305	26725	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1456_HUMAN	KIAA1456	HGNC	E9PK20_HUMAN	.	UPI0001596892	SNV	KIAA1456,3_prime_UTR_variant,,ENST00000524591,;KIAA1456,intron_variant,,ENST00000447063,;KIAA1456,downstream_gene_variant,,ENST00000529978,;	6479	183	149	SUCCESS
PURG	29942	.	GRCh37	8	30853912	30853912	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	9	0	ENST00000339382.2:c.*197T>A			ENST00000339382	NM_001015508.1			0	.	.	.	.	.	T	.	protein_coding	.	CCDS34878.1	.	MUTECT|MUSE	.	TGGATAGAGTC	NONE	.	.	.	.	.	ENSP00000345168	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000339382	Transcript	.	.	ENSG00000172733	17930	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PURG_HUMAN	PURG	HGNC	K7ENC1_HUMAN	.	UPI0000071144	SNV	PURG,3_prime_UTR_variant,,ENST00000339382,;	2099	9	8	SUCCESS
ST6GALNAC6	30815	.	GRCh37	9	130648812	130648812	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	rs777201044	.	TCGA-XR-A8TF-01	TCGA-XR-A8TF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	40	13	62	0	ENST00000291839.5:c.*66A>T			ENST00000291839				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6882.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCCCTGGCCT	NONE	.	.	.	.	.	ENSP00000362239	.	7/7	.	.	.	.	.	.	.	.	rs777201044	7/7	PASS	ENST00000373146	Transcript	.	.	ENSG00000160408	23364	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SIA7F_HUMAN	ST6GALNAC6	HGNC	.	.	UPI0000073734	SNV	ST6GALNAC6,missense_variant,p.Gln355Leu,ENST00000373142,;ST6GALNAC6,3_prime_UTR_variant,,ENST00000373141,;ST6GALNAC6,3_prime_UTR_variant,,ENST00000291839,;ST6GALNAC6,3_prime_UTR_variant,,ENST00000542456,;ST6GALNAC6,3_prime_UTR_variant,,ENST00000373146,;ST6GALNAC6,3_prime_UTR_variant,,ENST00000373144,;ST6GALNAC6,downstream_gene_variant,,ENST00000447681,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000485320,;RP11-203J24.9,intron_variant,,ENST00000476274,;ST6GALNAC6,downstream_gene_variant,,ENST00000494541,;ST6GALNAC6,downstream_gene_variant,,ENST00000463086,;RP11-203J24.9,upstream_gene_variant,,ENST00000548587,;ST6GALNAC6,downstream_gene_variant,,ENST00000480417,;	1248	62	53	SUCCESS
FAM196A	0	.	GRCh37	10	128936035	128936035	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs755328138	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	16	23	0	ENST00000522781.1:c.*66C>A			ENST00000522781	NM_001039762.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS31312.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTGGAAAAG	NONE	byCluster	.	.	.	.	ENSP00000429763	.	6/6	.	.	.	.	.	.	.	.	rs755328138	6/6	PASS	ENST00000522781	Transcript	.	.	ENSG00000188916	33859	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F196A_HUMAN	FAM196A	HGNC	.	.	UPI00001C0E37	SNV	FAM196A,3_prime_UTR_variant,,ENST00000522781,;FAM196A,3_prime_UTR_variant,,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,;	2062	23	32	SUCCESS
PSMB11	122706	.	GRCh37	14	23512989	23512990	+	3_prime_UTR_variant	3'UTR	INS	-	-	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	98	29	70	0	ENST00000408907.2:c.*654dup			ENST00000408907	NM_001099780.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS41923.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TGTGGCTTGCC	NONE	.	.	.	.	.	ENSP00000386212	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000408907	Transcript	.	.	ENSG00000222028	31963	2	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	PSB11_HUMAN	PSMB11	HGNC	.	.	UPI00001D7B85	insertion	PSMB11,3_prime_UTR_variant,,ENST00000408907,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000487137,;CDH24,downstream_gene_variant,,ENST00000397359,;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000485922,;	1614-1615	70	127	SUCCESS
FAHD1	81889	.	GRCh37	16	1878115	1878115	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1316765340	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	14	10	27	0	ENST00000427358.2:c.*210T>C			ENST00000427358	NM_031208.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32367.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GTCTCTACTAA	NONE	.	.	.	.	.	ENSP00000372112	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000382666	Transcript	.	.	ENSG00000180185	14169	.	.	MODIFIER	1/2	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FAHD1_HUMAN	FAHD1	HGNC	.	.	UPI000051946E	SNV	FAHD1,3_prime_UTR_variant,,ENST00000427358,;FAHD1,intron_variant,,ENST00000382666,;FAHD1,intron_variant,,ENST00000382668,;HAGH,upstream_gene_variant,,ENST00000397356,;HAGH,upstream_gene_variant,,ENST00000397353,;HAGH,upstream_gene_variant,,ENST00000569339,;HAGH,upstream_gene_variant,,ENST00000455446,;HAGH,upstream_gene_variant,,ENST00000566709,;HAGH,upstream_gene_variant,,ENST00000564518,;HAGH,upstream_gene_variant,,ENST00000567190,;HAGH,upstream_gene_variant,,ENST00000569700,;HAGH,upstream_gene_variant,,ENST00000565097,;	.	27	24	SUCCESS
ZFP3	124961	.	GRCh37	17	4996515	4996515	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	17	33	0	ENST00000318833.3:c.*207C>A			ENST00000318833	NM_153018.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS11067.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTGCCCAGGAT	NONE	.	.	.	.	.	ENSP00000320347	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000318833	Transcript	.	.	ENSG00000180787	12861	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFP3_HUMAN	ZFP3	HGNC	.	.	UPI0000070244	SNV	ZFP3,3_prime_UTR_variant,,ENST00000318833,;	2052	33	26	SUCCESS
ZNF563	147837	.	GRCh37	19	12429313	12429313	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs74901783	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	21	32	0	ENST00000293725.5:c.*95G>T			ENST00000293725	NM_145276.2			0	.	T:0	.	T:0	.	A	.	protein_coding	YES	CCDS12270.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCTTTCCCACA	NONE	byFrequency|byCluster|by1000G	.	.	T:0.005	.	ENSP00000293725	T:0	4/4	.	.	.	.	.	.	.	.	rs74901783	4/4	PASS	ENST00000293725	Transcript	.	T:0.0010	ENSG00000188868	30498	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	ZN563_HUMAN	ZNF563	HGNC	M0R1Q6_HUMAN	.	UPI0000072E62	SNV	ZNF563,3_prime_UTR_variant,,ENST00000293725,;ZNF563,downstream_gene_variant,,ENST00000601858,;ZNF563,downstream_gene_variant,,ENST00000595977,;ZNF563,downstream_gene_variant,,ENST00000594577,;	1732	32	43	SUCCESS
TMPRSS3	64699	.	GRCh37	21	43792838	43792838	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	55	35	78	0	ENST00000291532.3:c.*33T>C			ENST00000291532	NM_032404.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13686.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCTCAGGAAC	NONE	.	.	.	.	.	ENSP00000291532	.	13/13	.	.	.	.	.	.	.	.	.	13/13	PASS	ENST00000291532	Transcript	.	.	ENSG00000160183	11877	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TMPS3_HUMAN	TMPRSS3	HGNC	.	.	UPI0000047B13	SNV	TMPRSS3,3_prime_UTR_variant,,ENST00000380399,;TMPRSS3,3_prime_UTR_variant,,ENST00000433957,;TMPRSS3,3_prime_UTR_variant,,ENST00000291532,;TMPRSS3,3_prime_UTR_variant,,ENST00000398405,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000476848,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;	2354	78	90	SUCCESS
SOX11	6664	.	GRCh37	2	5838566	5838566	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	276	9	218	1	ENST00000322002.3:c.*4387G>A			ENST00000322002	NM_003108.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS1654.1	.	MUTECT|MUSE	.	ACTCTGATGGC	NONE	.	.	.	.	.	ENSP00000322568	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000322002	Transcript	.	.	ENSG00000176887	11191	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SOX11_HUMAN	SOX11	HGNC	Q05CH0_HUMAN	.	UPI00001362AD	SNV	SOX11,3_prime_UTR_variant,,ENST00000322002,;AC010729.1,intron_variant,,ENST00000455579,;	5768	219	285	SUCCESS
RAP2B	5912	.	GRCh37	3	152885684	152885684	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	67	49	80	0	ENST00000323534.2:c.*4650A>G			ENST00000323534	NM_002886.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3170.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGGACACTT	NONE	.	.	.	.	.	ENSP00000319096	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000323534	Transcript	.	.	ENSG00000181467	9862	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	RAP2B_HUMAN	RAP2B	HGNC	Q5JQ44_HUMAN	.	UPI0000004042	SNV	RAP2B,3_prime_UTR_variant,,ENST00000323534,;	5656	80	116	SUCCESS
PIGX	54965	.	GRCh37	3	196460822	196460822	+	3_prime_UTR_variant	3'UTR	DEL	T	T	-	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	53	9	43	0	ENST00000392391.3:c.*51del			ENST00000392391				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS54701.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	TATTAATTTCTG	NONE	.	49	.	.	.	ENSP00000296333	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000296333	Transcript	.	.	ENSG00000163964	26046	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	PIGX	HGNC	H0Y2P9_HUMAN,C9JF71_HUMAN,B4DFZ9_HUMAN	.	UPI00015E0960	deletion	PIGX,3_prime_UTR_variant,,ENST00000392391,;PIGX,3_prime_UTR_variant,,ENST00000541663,;PIGX,3_prime_UTR_variant,,ENST00000314118,;PIGX,downstream_gene_variant,,ENST00000426755,;PIGX,downstream_gene_variant,,ENST00000296333,;PIGX,3_prime_UTR_variant,,ENST00000415832,;PIGX,3_prime_UTR_variant,,ENST00000453218,;	.	43	62	SUCCESS
NPY2R	4887	.	GRCh37	4	156136851	156136851	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	51	68	80	0	ENST00000329476.3:c.*614C>T			ENST00000329476	NM_000910.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3791.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AACTCCTCAAC	NONE	.	.	.	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,3_prime_UTR_variant,,ENST00000506608,;NPY2R,3_prime_UTR_variant,,ENST00000329476,;	2249	80	119	SUCCESS
FAM218A	152756	.	GRCh37	4	165879319	165879319	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	120	175	177	0	ENST00000513876.2:c.*671G>T			ENST00000513876	NM_153027.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3807.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAATTGTCTTC	NONE	.	.	.	.	.	ENSP00000427428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000513876	Transcript	.	.	ENSG00000250486	26466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,3_prime_UTR_variant,,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	1220	177	295	SUCCESS
RNA5SP206	106478999	.	GRCh37	6	32047000	32047000	+	upstream_gene_variant	5'Flank	SNP	G	G	A	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	61	9	59	0				ENST00000516703				0	.	.	.	.	.	A	.	rRNA	YES	.	.	RADIA|MUTECT|MUSE|VARSCANS	.	CCCTGGGGGAC	NONE	.	595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000516703	Transcript	.	.	ENSG00000252512	43106	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RNA5SP206	HGNC	.	.	.	SNV	TNXB,synonymous_variant,p.%3D,ENST00000375247,;TNXB,synonymous_variant,p.%3D,ENST00000375244,;RNA5SP206,upstream_gene_variant,,ENST00000516703,;	.	59	70	SUCCESS
ZNRF2	223082	.	GRCh37	7	30402052	30402052	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	423	53	230	0	ENST00000323037.4:c.*2C>T			ENST00000323037	NM_147128.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS5426.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TTAAGCGTCAG	NONE	.	.	.	.	.	ENSP00000323879	.	4/5	.	.	.	.	.	.	.	.	.	4/5	PASS	ENST00000323037	Transcript	.	.	ENSG00000180233	22316	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ZNRF2_HUMAN	ZNRF2	HGNC	.	.	UPI000006DDF0	SNV	ZNRF2,3_prime_UTR_variant,,ENST00000323037,;ZNRF2,3_prime_UTR_variant,,ENST00000442800,;	1782	230	477	SUCCESS
ALAD	210	.	GRCh37	9	116150499	116150499	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1019830721	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	8	8	12	0	ENST00000409155.3:c.*81G>A			ENST00000409155	NM_000031.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS6794.2	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAAAGCAGCAT	NONE	.	.	.	.	.	ENSP00000386284	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000409155	Transcript	.	.	ENSG00000148218	395	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HEM2_HUMAN	ALAD	HGNC	.	.	UPI0000037431	SNV	ALAD,3_prime_UTR_variant,,ENST00000277315,;ALAD,3_prime_UTR_variant,,ENST00000409155,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000448137,;ALAD,downstream_gene_variant,,ENST00000482001,;ALAD,non_coding_transcript_exon_variant,,ENST00000482847,;ALAD,downstream_gene_variant,,ENST00000494848,;ALAD,downstream_gene_variant,,ENST00000468504,;ALAD,downstream_gene_variant,,ENST00000464749,;	1271	12	16	SUCCESS
ZCCHC16	0	.	GRCh37	X	111699324	111699324	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-XR-A8TG-01	TCGA-XR-A8TG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	63	8	46	0	ENST00000340433.2:c.*435T>C			ENST00000340433	NM_001004308.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS35369.1	.	MUTECT|MUSE|VARSCANS	.	TATCCTAGTTT	NONE	.	.	.	.	.	ENSP00000340590	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000340433	Transcript	.	.	ENSG00000187823	25214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZCH16_HUMAN	ZCCHC16	HGNC	.	.	UPI00001975B5	SNV	ZCCHC16,3_prime_UTR_variant,,ENST00000340433,;	1598	46	72	SUCCESS
ARHGAP42	143872	.	GRCh37	11	100864011	100864011	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	46	7	66	0				ENST00000298815	NM_152432.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS8309.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GATGCATTTTA	NONE	.	.	.	.	.	ENSP00000303999	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000303130	Transcript	.	.	ENSG00000170647	24033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	TM133_HUMAN	TMEM133	HGNC	.	.	UPI0000070A3A	SNV	TMEM133,3_prime_UTR_variant,,ENST00000303130,;ARHGAP42,downstream_gene_variant,,ENST00000524892,;ARHGAP42,downstream_gene_variant,,ENST00000298815,;ARHGAP42,downstream_gene_variant,,ENST00000529535,;	1201	66	53	SUCCESS
IGHD1-26	28506	.	GRCh37	14	106349758	106349758	+	upstream_gene_variant	5'Flank	SNP	G	G	C	rs532637623	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	351	80	368	1				ENST00000390567				0	.	A:0.0008	.	A:0	.	C	.	IG_D_gene	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCACTGTGGTA	NONE	byFrequency|by1000G	4651	.	A:0.002	.	ENSP00000429324	A:0	.	.	.	.	.	.	.	.	.	rs532637623	.	PASS	ENST00000390572	Transcript	.	A:0.0006	ENSG00000211912	5491	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	A:0	.	.	.	IGHD2-21	HGNC	.	.	.	SNV	IGHD2-21,downstream_gene_variant,,ENST00000390572,;IGHD4-23,downstream_gene_variant,,ENST00000437320,;IGHD3-22,downstream_gene_variant,,ENST00000390571,;IGHD5-24,downstream_gene_variant,,ENST00000390569,;IGHD6-25,upstream_gene_variant,,ENST00000452198,;IGHD1-26,upstream_gene_variant,,ENST00000390567,;	.	369	431	SUCCESS
NPAP1	23742	.	GRCh37	15	24924715	24924715	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	46	32	120	0	ENST00000329468.2:c.*230T>C			ENST00000329468	NM_018958.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10015.1	.	RADIA|MUTECT|MUSE	.	TGCAGTGAATG	NONE	.	.	.	.	.	ENSP00000333735	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000329468	Transcript	.	.	ENSG00000185823	1190	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	NPAP1_HUMAN	NPAP1	HGNC	.	.	UPI00001AFA1B	SNV	NPAP1,3_prime_UTR_variant,,ENST00000329468,;	4175	120	79	SUCCESS
GREM1	26585	.	GRCh37	15	33023643	33023643	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	50	54	116	0	ENST00000300177.4:c.*197A>G			ENST00000300177	NM_001191322.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10029.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGAGAAAACA	NONE	.	.	.	.	.	ENSP00000300177	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000300177	Transcript	1	.	ENSG00000166923	2001	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GREM1_HUMAN	GREM1	HGNC	A6XAA7_HUMAN	.	UPI0000073D48	SNV	GREM1,3_prime_UTR_variant,,ENST00000300177,;GREM1,3_prime_UTR_variant,,ENST00000322805,;GREM1,3_prime_UTR_variant,,ENST00000560830,;GREM1,downstream_gene_variant,,ENST00000560677,;	941	116	104	SUCCESS
RAB27B	5874	.	GRCh37	18	52556716	52556716	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	49	5	76	0	ENST00000262094.5:c.*72A>G			ENST00000262094	NM_004163.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11958.1	.	MUTECT|MUSE	.	ACACAATTGTT	NONE	.	.	.	.	.	ENSP00000262094	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000262094	Transcript	.	.	ENSG00000041353	9767	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RB27B_HUMAN	RAB27B	HGNC	K7ES41_HUMAN	.	UPI0000001268	SNV	RAB27B,3_prime_UTR_variant,,ENST00000262094,;RAB27B,intron_variant,,ENST00000592334,;RP11-839G9.1,intron_variant,,ENST00000588466,;RAB27B,downstream_gene_variant,,ENST00000586594,;	1250	76	54	SUCCESS
ZNF675	171392	.	GRCh37	19	23835932	23835932	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	6	15	0	ENST00000359788.4:c.*96A>G			ENST00000359788	NM_138330.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS32981.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACCATTTAAAG	NONE	.	.	.	.	.	ENSP00000352836	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000359788	Transcript	.	.	ENSG00000197372	30768	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN675_HUMAN	ZNF675	HGNC	M0R373_HUMAN	.	UPI0000203902	SNV	ZNF675,3_prime_UTR_variant,,ENST00000359788,;ZNF675,intron_variant,,ENST00000601935,;ZNF675,intron_variant,,ENST00000596211,;ZNF675,intron_variant,,ENST00000600313,;ZNF675,downstream_gene_variant,,ENST00000599535,;ZNF675,non_coding_transcript_exon_variant,,ENST00000600299,;ZNF675,downstream_gene_variant,,ENST00000597074,;	1972	15	26	SUCCESS
SELV	0	.	GRCh37	19	40009797	40009797	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	53	3	78	0	ENST00000335426.4:c.*9G>T			ENST00000335426	NM_182704.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS54266.1	.	MUTECT|MUSE	.	GCAAGGGGTGG	NONE	.	.	.	.	.	ENSP00000333956	.	5/6	.	.	.	.	.	.	.	.	.	5/6	PASS	ENST00000335426	Transcript	.	.	ENSG00000186838	.	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SELV_HUMAN	SELV	Uniprot_gn	.	.	UPI00001B2974	SNV	SELV,3_prime_UTR_variant,,ENST00000423711,;SELV,3_prime_UTR_variant,,ENST00000335426,;SELV,3_prime_UTR_variant,,ENST00000600586,;SELV,downstream_gene_variant,,ENST00000597876,;	1150	78	56	SUCCESS
SHE	126669	.	GRCh37	1	154456427	154456427	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	16	3	10	0	ENST00000304760.2:c.*198A>G			ENST00000304760	NM_001010846.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30877.1	.	MUTECT|MUSE	.	CAAGATTGCGC	NONE	.	.	.	.	.	ENSP00000307369	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000304760	Transcript	.	.	ENSG00000169291	27004	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SHE_HUMAN	SHE	HGNC	.	.	UPI00004588E0	SNV	SHE,3_prime_UTR_variant,,ENST00000304760,;SHE,3_prime_UTR_variant,,ENST00000555188,;SHE,intron_variant,,ENST00000486773,;RP11-350G8.9,downstream_gene_variant,,ENST00000607963,;	1773	10	19	SUCCESS
KDR	3791	.	GRCh37	4	55945936	55945936	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	16	0	ENST00000263923.4:c.*172G>A			ENST00000263923	NM_002253.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3497.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAAGCCTCTTC	NONE	.	.	.	.	.	ENSP00000263923	.	30/30	.	.	.	.	.	.	.	.	.	30/30	PASS	ENST00000263923	Transcript	1	.	ENSG00000128052	6307	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	VGFR2_HUMAN	KDR	HGNC	B4DEK3_HUMAN	.	UPI000003AE04	SNV	KDR,3_prime_UTR_variant,,ENST00000263923,;RP11-530I17.1,intron_variant,,ENST00000511222,;	4539	16	16	SUCCESS
TCERG1	10915	.	GRCh37	5	145890244	145890244	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	38	13	56	0	ENST00000296702.5:c.*39C>T			ENST00000296702	NM_006706.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4282.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAATGCTTGCA	NONE	.	.	.	.	.	ENSP00000296702	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000296702	Transcript	.	.	ENSG00000113649	15630	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCRG1_HUMAN	TCERG1	HGNC	.	.	UPI000013E374	SNV	TCERG1,3_prime_UTR_variant,,ENST00000296702,;TCERG1,3_prime_UTR_variant,,ENST00000394421,;GPR151,downstream_gene_variant,,ENST00000311104,;TCERG1,downstream_gene_variant,,ENST00000503741,;TCERG1,downstream_gene_variant,,ENST00000514567,;TCERG1,3_prime_UTR_variant,,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000511077,;TCERG1,non_coding_transcript_exon_variant,,ENST00000506524,;TCERG1,downstream_gene_variant,,ENST00000514719,;	3374	56	51	SUCCESS
CCNO	10309	.	GRCh37	5	54527175	54527175	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	54	27	86	0	ENST00000282572.4:c.*28C>G			ENST00000282572	NM_021147.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34157.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGCCAGGGACT	NONE	.	.	.	.	.	ENSP00000282572	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000282572	Transcript	1	.	ENSG00000152669	18576	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CCNO_HUMAN	CCNO	HGNC	.	.	UPI000020C764	SNV	CCNO,3_prime_UTR_variant,,ENST00000282572,;MCIDAS,upstream_gene_variant,,ENST00000513312,;RP11-506H20.1,upstream_gene_variant,,ENST00000506435,;MCIDAS,upstream_gene_variant,,ENST00000515336,;CCNO,3_prime_UTR_variant,,ENST00000501463,;MCIDAS,upstream_gene_variant,,ENST00000513468,;	1238	86	82	SUCCESS
PBX2	5089	.	GRCh37	6	32154022	32154022	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	41	6	45	0	ENST00000375050.4:c.*137A>G			ENST00000375050	NM_002586.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4748.1	.	MUTECT|MUSE	.	GAGTCTCGTTA	NONE	.	.	.	.	.	ENSP00000364190	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000375050	Transcript	.	.	ENSG00000204304	8633	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PBX2_HUMAN	PBX2	HGNC	.	.	UPI00001313B2	SNV	PBX2,3_prime_UTR_variant,,ENST00000375050,;AGER,upstream_gene_variant,,ENST00000375056,;AGER,upstream_gene_variant,,ENST00000450110,;RNF5,downstream_gene_variant,,ENST00000427134,;GPSM3,downstream_gene_variant,,ENST00000487761,;AGER,upstream_gene_variant,,ENST00000375055,;AGER,upstream_gene_variant,,ENST00000375070,;AGER,upstream_gene_variant,,ENST00000438221,;AGER,upstream_gene_variant,,ENST00000375065,;AGER,upstream_gene_variant,,ENST00000375076,;AGER,upstream_gene_variant,,ENST00000375067,;GPSM3,downstream_gene_variant,,ENST00000375043,;AGER,upstream_gene_variant,,ENST00000375069,;AGER,upstream_gene_variant,,ENST00000538695,;GPSM3,downstream_gene_variant,,ENST00000375040,;XXbac-BPG300A18.13,upstream_gene_variant,,ENST00000559458,;PBX2,downstream_gene_variant,,ENST00000496171,;PBX2,downstream_gene_variant,,ENST00000480254,;AGER,upstream_gene_variant,,ENST00000473619,;GPSM3,downstream_gene_variant,,ENST00000472768,;AGER,upstream_gene_variant,,ENST00000488669,;AGER,upstream_gene_variant,,ENST00000484849,;PBX2,downstream_gene_variant,,ENST00000495300,;PBX2,downstream_gene_variant,,ENST00000478678,;AGER,upstream_gene_variant,,ENST00000469940,;	1701	45	47	SUCCESS
CRIP3	401262	.	GRCh37	6	43273405	43273405	+	downstream_gene_variant	3'Flank	SNP	T	T	A	rs959171251	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	12	9	17	0				ENST00000274990				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4894.2	.	MUTECT|MUSE	.	TAGACTCTCTG	NONE	.	.	.	.	.	ENSP00000361650	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000372569	Transcript	.	.	ENSG00000146215	17751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CRIP3_HUMAN	CRIP3	HGNC	.	.	UPI00001AE9D2	SNV	CRIP3,3_prime_UTR_variant,,ENST00000451294,;CRIP3,3_prime_UTR_variant,,ENST00000372569,;CRIP3,intron_variant,,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000372589,;SLC22A7,downstream_gene_variant,,ENST00000372574,;CRIP3,downstream_gene_variant,,ENST00000274990,;SLC22A7,downstream_gene_variant,,ENST00000372585,;SLC22A7,downstream_gene_variant,,ENST00000436107,;SLC22A7,downstream_gene_variant,,ENST00000487175,;ZNF318,downstream_gene_variant,,ENST00000607252,;CRIP3,downstream_gene_variant,,ENST00000487744,;CRIP3,downstream_gene_variant,,ENST00000485819,;CRIP3,downstream_gene_variant,,ENST00000477866,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;	767	17	21	SUCCESS
NUDT1	4521	.	GRCh37	7	2290742	2290742	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	9	19	0	ENST00000397049.1:c.*106T>A			ENST00000397049	NM_198948.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5329.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGGAATTAACT	NONE	.	.	.	.	.	ENSP00000380242	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000397049	Transcript	.	.	ENSG00000106268	8048	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	8ODP_HUMAN	NUDT1	HGNC	C9J361_HUMAN	.	UPI000013C81F	SNV	NUDT1,3_prime_UTR_variant,,ENST00000397046,;NUDT1,3_prime_UTR_variant,,ENST00000343985,;NUDT1,3_prime_UTR_variant,,ENST00000397048,;NUDT1,3_prime_UTR_variant,,ENST00000339737,;NUDT1,3_prime_UTR_variant,,ENST00000397049,;NUDT1,3_prime_UTR_variant,,ENST00000356714,;SNX8,downstream_gene_variant,,ENST00000222990,;NUDT1,non_coding_transcript_exon_variant,,ENST00000487426,;NUDT1,downstream_gene_variant,,ENST00000471348,;SNX8,downstream_gene_variant,,ENST00000480807,;	748	19	41	SUCCESS
ABRA	137735	.	GRCh37	8	107773171	107773171	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	5	29	0	ENST00000311955.3:c.*94T>C			ENST00000311955	NM_139166.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6305.1	.	MUTECT|MUSE	.	TACTAACTTAT	NONE	.	.	.	.	.	ENSP00000311436	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000311955	Transcript	.	.	ENSG00000174429	30655	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABRA_HUMAN	ABRA	HGNC	.	.	UPI000006F0DE	SNV	ABRA,3_prime_UTR_variant,,ENST00000311955,;	1295	29	47	SUCCESS
C8orf22	0	.	GRCh37	8	49988026	49988026	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1234634632	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	5	3	9	0	ENST00000303202.8:c.*936G>A			ENST00000303202	NM_001256598.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS59101.1	.	MUTECT|MUSE	.	ACCTGGTGCAT	NONE	.	.	.	.	.	ENSP00000304926	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000303202	Transcript	.	.	ENSG00000168333	31745	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PDPFL_HUMAN	C8orf22	HGNC	.	.	UPI0000070316	SNV	C8orf22,3_prime_UTR_variant,,ENST00000303202,;C8orf22,3_prime_UTR_variant,,ENST00000399653,;C8orf22,3_prime_UTR_variant,,ENST00000517663,;C8orf22,3_prime_UTR_variant,,ENST00000522267,;	1364	9	8	SUCCESS
GRIN1	2902	.	GRCh37	9	140062032	140062032	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	26	86	0	ENST00000371561.3:c.*53G>A			ENST00000371561	NM_007327.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS55354.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAGACGGACGG	NONE	.	.	.	.	.	ENSP00000360608	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000371553	Transcript	.	.	ENSG00000176884	4584	.	.	MODIFIER	20/20	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NMDZ1_HUMAN	GRIN1	HGNC	.	.	UPI000014AF8E	SNV	GRIN1,3_prime_UTR_variant,,ENST00000371555,;GRIN1,3_prime_UTR_variant,,ENST00000371561,;GRIN1,3_prime_UTR_variant,,ENST00000371546,;GRIN1,3_prime_UTR_variant,,ENST00000371550,;GRIN1,intron_variant,,ENST00000315048,;GRIN1,intron_variant,,ENST00000371559,;GRIN1,intron_variant,,ENST00000371553,;GRIN1,intron_variant,,ENST00000371560,;LRRC26,downstream_gene_variant,,ENST00000371542,;TMEM210,downstream_gene_variant,,ENST00000413619,;TMEM210,downstream_gene_variant,,ENST00000535352,;GRIN1,downstream_gene_variant,,ENST00000350902,;MIR3621,downstream_gene_variant,,ENST00000580529,;GRIN1,downstream_gene_variant,,ENST00000473811,;GRIN1,upstream_gene_variant,,ENST00000462584,;GRIN1,downstream_gene_variant,,ENST00000460273,;RP11-350O14.18,downstream_gene_variant,,ENST00000568665,;GRIN1,downstream_gene_variant,,ENST00000471122,;TMEM210,downstream_gene_variant,,ENST00000430332,;TMEM210,downstream_gene_variant,,ENST00000427366,;	.	86	74	SUCCESS
SMC5	23137	.	GRCh37	9	72967325	72967325	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-YA-A8S7-01	TCGA-YA-A8S7-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	56	26	87	0	ENST00000361138.5:c.*78G>A			ENST00000361138	NM_015110.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6632.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AAGGAGATTCA	NONE	.	.	.	.	.	ENSP00000354957	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000361138	Transcript	.	.	ENSG00000198887	20465	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMC5_HUMAN	SMC5	HGNC	.	.	UPI000036763A	SNV	SMC5,3_prime_UTR_variant,,ENST00000361138,;SMC5,downstream_gene_variant,,ENST00000471372,;	3442	87	82	SUCCESS
DDI1	414301	.	GRCh37	11	103908945	103908945	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	78	34	135	0	ENST00000302259.3:c.*204C>A			ENST00000302259	NM_001001711.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS31660.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATCACTGAAA	NONE	.	.	.	.	.	ENSP00000302805	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000302259	Transcript	.	.	ENSG00000170967	18961	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DDI1_HUMAN	DDI1	HGNC	.	.	UPI0000047AEA	SNV	DDI1,3_prime_UTR_variant,,ENST00000302259,;PDGFD,intron_variant,,ENST00000302251,;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	1638	135	112	SUCCESS
FAM189A1	23359	.	GRCh37	15	29415500	29415500	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	25	111	0	ENST00000261275.4:c.*42A>C			ENST00000261275	NM_015307.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS45198.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATCTGTGGCGC	NONE	.	.	.	.	.	ENSP00000261275	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000261275	Transcript	.	.	ENSG00000104059	29075	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F1891_HUMAN	FAM189A1	HGNC	H0YKM1_HUMAN	.	UPI0001641C10	SNV	FAM189A1,3_prime_UTR_variant,,ENST00000261275,;APBA2,downstream_gene_variant,,ENST00000558259,;APBA2,downstream_gene_variant,,ENST00000558402,;APBA2,downstream_gene_variant,,ENST00000411764,;FAM189A1,downstream_gene_variant,,ENST00000560021,;	1662	111	80	SUCCESS
IGFALS	3483	.	GRCh37	16	1840465	1840465	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs543121754	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	19	10	30	0	ENST00000215539.3:c.*136A>G			ENST00000215539				0	.	C:0.0008	.	C:0	.	C	.	protein_coding	YES	CCDS53982.1	.	MUTECT|MUSE	.	CGCCATGCCTT	NONE	by1000G	12	.	C:0	.	ENSP00000416683	C:0	.	.	.	.	.	.	.	.	.	rs543121754	.	PASS	ENST00000415638	Transcript	.	C:0.0002	ENSG00000099769	5468	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	C:0	.	.	ALS_HUMAN	IGFALS	HGNC	.	.	UPI00019863AB	SNV	IGFALS,3_prime_UTR_variant,,ENST00000215539,;SPSB3,intron_variant,,ENST00000569769,;IGFALS,downstream_gene_variant,,ENST00000415638,;NUBP2,downstream_gene_variant,,ENST00000565134,;NUBP2,downstream_gene_variant,,ENST00000565987,;NUBP2,downstream_gene_variant,,ENST00000262302,;NUBP2,downstream_gene_variant,,ENST00000562263,;NUBP2,downstream_gene_variant,,ENST00000543305,;IGFALS,downstream_gene_variant,,ENST00000568221,;NUBP2,downstream_gene_variant,,ENST00000563136,;NUBP2,downstream_gene_variant,,ENST00000568287,;NUBP2,downstream_gene_variant,,ENST00000568706,;NUBP2,downstream_gene_variant,,ENST00000568610,;NUBP2,downstream_gene_variant,,ENST00000569898,;NUBP2,downstream_gene_variant,,ENST00000565603,;NUBP2,downstream_gene_variant,,ENST00000563821,;NUBP2,downstream_gene_variant,,ENST00000566447,;NUBP2,downstream_gene_variant,,ENST00000567700,;NUBP2,downstream_gene_variant,,ENST00000568834,;NUBP2,downstream_gene_variant,,ENST00000564227,;NUBP2,downstream_gene_variant,,ENST00000566090,;	.	30	29	SUCCESS
ZFHX3	463	.	GRCh37	16	72820987	72820987	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	42	0	ENST00000268489.5:c.*76A>G			ENST00000268489	NM_006885.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS10908.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAGTTAGTCT	NONE	.	.	.	.	.	ENSP00000268489	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000268489	Transcript	.	.	ENSG00000140836	777	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZFHX3_HUMAN	ZFHX3	HGNC	Q6TCJ2_HUMAN	.	UPI00001AE937	SNV	ZFHX3,3_prime_UTR_variant,,ENST00000397992,;ZFHX3,3_prime_UTR_variant,,ENST00000268489,;AC004943.1,downstream_gene_variant,,ENST00000584072,;RP5-991G20.1,intron_variant,,ENST00000563328,;RP5-991G20.4,upstream_gene_variant,,ENST00000569195,;	11861	42	44	SUCCESS
NUFIP2	57532	.	GRCh37	17	27591409	27591409	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1263974824	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	11	3	18	0	ENST00000225388.4:c.*148C>T			ENST00000225388	NM_020772.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS32600.1	.	MUTECT|MUSE	.	TATATGTATAT	NONE	.	.	.	.	.	ENSP00000225388	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000225388	Transcript	.	.	ENSG00000108256	17634	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NUFP2_HUMAN	NUFIP2	HGNC	A1L3A7_HUMAN	.	UPI00001B078D	SNV	NUFIP2,3_prime_UTR_variant,,ENST00000225388,;NUFIP2,downstream_gene_variant,,ENST00000579665,;	2295	18	14	SUCCESS
VPS53	55275	.	GRCh37	17	435814	435814	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	4	10	0				ENST00000571805				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS45558.1	.	MUTECT|MUSE	.	TTCTTATTGGA	NONE	.	.	.	.	.	ENSP00000401435	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000437048	Transcript	.	.	ENSG00000141252	25608	.	.	MODIFIER	19/21	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	VPS53_HUMAN	VPS53	HGNC	Q8NCR1_HUMAN,I3L4P9_HUMAN	.	UPI0000DBEF01	SNV	VPS53,3_prime_UTR_variant,,ENST00000446250,;VPS53,3_prime_UTR_variant,,ENST00000291074,;VPS53,intron_variant,,ENST00000574029,;VPS53,intron_variant,,ENST00000437048,;VPS53,downstream_gene_variant,,ENST00000571805,;VPS53,downstream_gene_variant,,ENST00000401468,;RP5-1029F21.4,intron_variant,,ENST00000570974,;VPS53,intron_variant,,ENST00000576149,;VPS53,3_prime_UTR_variant,,ENST00000573028,;VPS53,intron_variant,,ENST00000570771,;VPS53,downstream_gene_variant,,ENST00000389040,;VPS53,downstream_gene_variant,,ENST00000570359,;	.	10	9	SUCCESS
SOCS6	9306	.	GRCh37	18	67994203	67994203	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	56	23	88	0	ENST00000397942.3:c.*691A>G			ENST00000397942	NM_004232.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11998.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TTTTAATAAAT	NONE	.	.	.	.	.	ENSP00000381034	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000397942	Transcript	.	.	ENSG00000170677	16833	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SOCS6_HUMAN	SOCS6	HGNC	J3KTM7_HUMAN	.	UPI0000072C28	SNV	SOCS6,3_prime_UTR_variant,,ENST00000397942,;SOCS6,3_prime_UTR_variant,,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	2615	88	80	SUCCESS
ZNF98	148198	.	GRCh37	19	22574285	22574285	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	rs1411594822	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	177	94	368	0	ENST00000357774.5:c.*33G>T			ENST00000357774	NM_001098626.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS46031.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATAACCATTT	NONE	.	.	.	.	.	ENSP00000350418	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000357774	Transcript	.	.	ENSG00000197360	13174	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZNF98_HUMAN	ZNF98	HGNC	M0QZS3_HUMAN	.	UPI0000251DC5	SNV	ZNF98,3_prime_UTR_variant,,ENST00000357774,;ZNF98,downstream_gene_variant,,ENST00000593657,;	1874	369	271	SUCCESS
ZNF730	100129543	.	GRCh37	19	23329411	23329411	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	16	5	28	0	ENST00000597761.2:c.*53A>G			ENST00000597761	NM_001277403.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59371.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TACACATAAGA	NONE	.	.	.	.	.	ENSP00000472959	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000597761	Transcript	.	.	ENSG00000183850	32470	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN730_HUMAN	ZNF730	HGNC	.	.	UPI000035E7F4	SNV	ZNF730,3_prime_UTR_variant,,ENST00000597761,;ZNF730,downstream_gene_variant,,ENST00000599195,;	1764	28	22	SUCCESS
ZNF77	58492	.	GRCh37	19	2944971	2944971	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	5	18	0				ENST00000314531	NM_021217.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12099.1	.	RADIA|MUTECT|MUSE	.	GCTTACCGTCC	NONE	.	40	.	.	.	ENSP00000319053	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000314531	Transcript	.	.	ENSG00000175691	13150	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZNF77_HUMAN	ZNF77	HGNC	.	.	UPI0000160564	SNV	ZNF77,upstream_gene_variant,,ENST00000314531,;ZNF77,upstream_gene_variant,,ENST00000588050,;	.	18	19	SUCCESS
CRCT1	54544	.	GRCh37	1	152488244	152488244	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	133	34	100	0	ENST00000368790.3:c.*85G>T			ENST00000368790	NM_019060.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1012.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGCTGGGCCT	NONE	.	.	.	.	.	ENSP00000357779	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368790	Transcript	.	.	ENSG00000169509	29875	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRCT1_HUMAN	CRCT1	HGNC	.	.	UPI0000130071	SNV	CRCT1,3_prime_UTR_variant,,ENST00000368790,;LCE5A,downstream_gene_variant,,ENST00000334269,;	458	100	167	SUCCESS
DYSF	8291	.	GRCh37	2	71913757	71913757	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	10	3	11	0	ENST00000258104.3:c.*135A>G			ENST00000258104	NM_003494.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46328.1	.	MUTECT|MUSE	.	GACAGATGGAC	NONE	.	.	.	.	.	ENSP00000386881	.	56/56	.	.	.	.	.	.	.	.	.	56/56	PASS	ENST00000410020	Transcript	.	.	ENSG00000135636	3097	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DYSF_HUMAN	DYSF	HGNC	A0FK00_HUMAN	.	UPI000171F710	SNV	DYSF,3_prime_UTR_variant,,ENST00000409582,;DYSF,3_prime_UTR_variant,,ENST00000410020,;DYSF,3_prime_UTR_variant,,ENST00000409744,;DYSF,3_prime_UTR_variant,,ENST00000429174,;DYSF,3_prime_UTR_variant,,ENST00000409762,;DYSF,3_prime_UTR_variant,,ENST00000410041,;DYSF,3_prime_UTR_variant,,ENST00000409651,;DYSF,3_prime_UTR_variant,,ENST00000394120,;DYSF,3_prime_UTR_variant,,ENST00000409366,;DYSF,3_prime_UTR_variant,,ENST00000413539,;DYSF,3_prime_UTR_variant,,ENST00000258104,;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;	6636	11	13	SUCCESS
FOXL2	668	.	GRCh37	3	138664350	138664350	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1012554813	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	141	47	249	0	ENST00000330315.3:c.*84G>A			ENST00000330315	NM_023067.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3105.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GCTGGCGGCGG	NONE	.	.	.	.	.	ENSP00000333188	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000330315	Transcript	.	.	ENSG00000183770	1092	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FOXL2_HUMAN	FOXL2	HGNC	Q53ZD3_HUMAN,Q4JHB7_HUMAN,Q4JHB5_HUMAN	.	UPI0000050DB3	SNV	FOXL2,3_prime_UTR_variant,,ENST00000330315,;C3orf72,upstream_gene_variant,,ENST00000383165,;RP11-548O1.3,upstream_gene_variant,,ENST00000483650,;RP11-548O1.3,upstream_gene_variant,,ENST00000495287,;RP11-548O1.3,upstream_gene_variant,,ENST00000477059,;C3orf72,upstream_gene_variant,,ENST00000470680,;C3orf72,upstream_gene_variant,,ENST00000498709,;	1633	249	188	SUCCESS
CHCHD4	131474	.	GRCh37	3	14154255	14154255	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	13	3	26	0	ENST00000396914.3:c.*132G>A			ENST00000396914	NM_001098502.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS2617.1	.	MUTECT|MUSE	.	CTGATCATCAA	NONE	.	.	.	.	.	ENSP00000295767	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000295767	Transcript	.	.	ENSG00000163528	26467	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MIA40_HUMAN	CHCHD4	HGNC	.	.	UPI000007370C	SNV	CHCHD4,3_prime_UTR_variant,,ENST00000295767,;CHCHD4,3_prime_UTR_variant,,ENST00000396914,;CHCHD4,downstream_gene_variant,,ENST00000420103,;	925	26	16	SUCCESS
CEP120	153241	.	GRCh37	5	122682079	122682079	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	6	22	0	ENST00000306467.5:c.*134G>A			ENST00000306467				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4134.2	.	MUTECT|MUSE	.	CTATACAATAA	NONE	.	.	.	.	.	ENSP00000303058	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000306467	Transcript	1	.	ENSG00000168944	26690	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CE120_HUMAN	CEP120	HGNC	F8VRV0_HUMAN,D6REX9_HUMAN,D6RC69_HUMAN	.	UPI0000D79C73	SNV	CEP120,3_prime_UTR_variant,,ENST00000328236,;CEP120,3_prime_UTR_variant,,ENST00000306467,;CEP120,3_prime_UTR_variant,,ENST00000306481,;CEP120,downstream_gene_variant,,ENST00000508442,;CEP120,3_prime_UTR_variant,,ENST00000508138,;CEP120,downstream_gene_variant,,ENST00000513565,;	3400	22	12	SUCCESS
KHDC1	80759	.	GRCh37	6	73951065	73951065	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	10	7	12	0	ENST00000370384.3:c.*187C>A			ENST00000370384	NM_001251874.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS59027.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTGGATTGC	NONE	.	.	.	.	.	ENSP00000359411	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000370384	Transcript	.	.	ENSG00000135314	21366	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KHDC1_HUMAN	KHDC1	HGNC	A6PVU5_HUMAN	.	UPI000020D187	SNV	KHDC1,3_prime_UTR_variant,,ENST00000370384,;KHDC1,3_prime_UTR_variant,,ENST00000257765,;KHDC1,downstream_gene_variant,,ENST00000433730,;RP11-257K9.8,intron_variant,,ENST00000423730,;	1402	12	17	SUCCESS
CSMD3	114788	.	GRCh37	8	113236840	113236840	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	5	22	0	ENST00000297405.5:c.*160A>G			ENST00000297405	NM_198123.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS6315.1	.	MUTECT|MUSE	.	AATTATGGTCC	NONE	.	.	.	.	.	ENSP00000297405	.	71/71	.	.	.	.	.	.	.	.	.	71/71	PASS	ENST00000297405	Transcript	.	.	ENSG00000164796	19291	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CSMD3_HUMAN	CSMD3	HGNC	.	.	UPI00001E0584	SNV	CSMD3,3_prime_UTR_variant,,ENST00000352409,;CSMD3,3_prime_UTR_variant,,ENST00000455883,;CSMD3,3_prime_UTR_variant,,ENST00000297405,;CSMD3,3_prime_UTR_variant,,ENST00000339701,;CSMD3,3_prime_UTR_variant,,ENST00000343508,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	11529	22	29	SUCCESS
SLC45A4	57210	.	GRCh37	8	142221335	142221335	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs559857763	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	27	10	26	0	ENST00000024061.3:c.*206G>A			ENST00000024061	NM_001080431.1			0	.	T:0.0008	.	T:0	.	T	.	protein_coding	YES	CCDS34948.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GTCAACGTTTC	NONE	by1000G	.	.	T:0	.	ENSP00000024061	T:0	8/8	.	.	.	.	.	.	.	.	rs559857763	8/8	PASS	ENST00000024061	Transcript	.	T:0.0002	ENSG00000022567	29196	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	S45A4_HUMAN	SLC45A4	HGNC	E5RJM7_HUMAN	.	UPI0000237468	SNV	SLC45A4,3_prime_UTR_variant,,ENST00000024061,;SLC45A4,3_prime_UTR_variant,,ENST00000433583,;SLC45A4,3_prime_UTR_variant,,ENST00000517878,;SLC45A4,3_prime_UTR_variant,,ENST00000519067,;	2911	26	37	SUCCESS
ZNF189	7743	.	GRCh37	9	104161263	104161273	+	upstream_gene_variant	5'Flank	DEL	GCGTCTGATAT	GCGTCTGATAT	-	novel	.	TCGA-ZP-A9CV-01	TCGA-ZP-A9CV-10	GCGTCTGATAT	GCGTCTGATAT	.	.	.	.	.	.	.	.	.	.	.	.	.	29	8	43	0				ENST00000339664	NM_001278240.1			0	.	.	.	.	.	-	.	protein_coding	YES	CCDS6754.1	.	VARSCANI*|PINDEL	.	GGGATCGCGTCTGATATGCTGT	NONE	.	37	.	.	.	ENSP00000342019	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000339664	Transcript	.	.	ENSG00000136870	12980	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ZN189_HUMAN	ZNF189	HGNC	.	.	UPI000013FAD5	deletion	ZNF189,5_prime_UTR_variant,,ENST00000374861,;ZNF189,upstream_gene_variant,,ENST00000339664,;ZNF189,upstream_gene_variant,,ENST00000259395,;MRPL50,upstream_gene_variant,,ENST00000374865,;MRPL50,upstream_gene_variant,,ENST00000539624,;	.	43	37	SUCCESS
KHNYN	23351	.	GRCh37	14	24910181	24910196	+	3_prime_UTR_variant	3'UTR	DEL	GGCTCTCTGTAGTGGA	GGCTCTCTGTAGTGGA	-	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	GGCTCTCTGTAGTGGA	GGCTCTCTGTAGTGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	36	12	35	0	ENST00000251343.5:c.*3695_*3710del			ENST00000251343				0	.	.	.	.	.	-	.	protein_coding	YES	CCDS32058.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	CTGCCTGGCTCTCTGTAGTGGAGGCTC	NONE	.	.	.	.	.	ENSP00000251343	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000251343	Transcript	.	.	ENSG00000100441	20166	5	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KHNYN_HUMAN	KHNYN	HGNC	G3V3G3_HUMAN,G3V331_HUMAN	.	UPI000000CC1F	deletion	KHNYN,3_prime_UTR_variant,,ENST00000251343,;SDR39U1,intron_variant,,ENST00000399390,;SDR39U1,intron_variant,,ENST00000556523,;SDR39U1,intron_variant,,ENST00000555225,;SDR39U1,intron_variant,,ENST00000554698,;SDR39U1,intron_variant,,ENST00000555355,;SDR39U1,intron_variant,,ENST00000555365,;SDR39U1,intron_variant,,ENST00000556249,;SDR39U1,intron_variant,,ENST00000553343,;SDR39U1,intron_variant,,ENST00000538105,;SDR39U1,intron_variant,,ENST00000399395,;SDR39U1,intron_variant,,ENST00000553930,;KHNYN,downstream_gene_variant,,ENST00000556842,;KHNYN,downstream_gene_variant,,ENST00000553935,;KHNYN,downstream_gene_variant,,ENST00000554268,;SDR39U1,intron_variant,,ENST00000555830,;SDR39U1,upstream_gene_variant,,ENST00000555561,;SDR39U1,non_coding_transcript_exon_variant,,ENST00000553546,;SDR39U1,intron_variant,,ENST00000554947,;SDR39U1,intron_variant,,ENST00000556175,;SDR39U1,intron_variant,,ENST00000556548,;SDR39U1,intron_variant,,ENST00000556707,;SDR39U1,intron_variant,,ENST00000544691,;SDR39U1,intron_variant,,ENST00000556262,;KHNYN,downstream_gene_variant,,ENST00000556255,;SDR39U1,downstream_gene_variant,,ENST00000553937,;SDR39U1,downstream_gene_variant,,ENST00000555778,;	5866-5881	35	48	SUCCESS
MNT	4335	.	GRCh37	17	2290093	2290093	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	rs976590304	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	26	11	16	0	ENST00000174618.4:c.*102C>A			ENST00000174618	NM_020310.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11018.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GGGGGGCTGGC	NONE	.	.	.	.	.	ENSP00000174618	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000174618	Transcript	.	.	ENSG00000070444	7188	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MNT_HUMAN	MNT	HGNC	K7ES66_HUMAN	.	UPI000012F2C6	SNV	MNT,3_prime_UTR_variant,,ENST00000174618,;MNT,downstream_gene_variant,,ENST00000575394,;RP1-59D14.1,downstream_gene_variant,,ENST00000571775,;MNT,downstream_gene_variant,,ENST00000575374,;MNT,downstream_gene_variant,,ENST00000571232,;MNT,downstream_gene_variant,,ENST00000572892,;MNT,downstream_gene_variant,,ENST00000573384,;MNT,downstream_gene_variant,,ENST00000575402,;	2257	16	38	SUCCESS
LRRC52	440699	.	GRCh37	1	165533154	165533154	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	37	20	31	0	ENST00000294818.1:c.*93T>C			ENST00000294818	NM_001005214.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30930.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGATTGAAA	NONE	.	.	.	.	.	ENSP00000294818	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000294818	Transcript	.	.	ENSG00000162763	32156	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LRC52_HUMAN	LRRC52	HGNC	.	.	UPI000013E1BE	SNV	LRRC52,3_prime_UTR_variant,,ENST00000294818,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;RP11-280O1.2,intron_variant,,ENST00000438275,;	1325	31	57	SUCCESS
RSAD2	91543	.	GRCh37	2	7036225	7036225	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1334805712	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	23	5	34	0	ENST00000382040.3:c.*152A>G			ENST00000382040	NM_080657.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1656.1	.	MUTECT|MUSE	.	TGAACACACGA	NONE	.	.	.	.	.	ENSP00000371471	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000382040	Transcript	.	.	ENSG00000134321	30908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSAD2_HUMAN	RSAD2	HGNC	.	.	UPI000007242A	SNV	RSAD2,3_prime_UTR_variant,,ENST00000541728,;RSAD2,3_prime_UTR_variant,,ENST00000382040,;	1374	34	28	SUCCESS
SYNPO2	171024	.	GRCh37	4	119953405	119953405	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	11	0	ENST00000429713.2:c.*193T>C			ENST00000429713	NM_001128933.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS34054.1	.	MUTECT|MUSE	.	ATTTATCTTCT	NONE	.	.	.	.	.	ENSP00000306015	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000307142	Transcript	.	.	ENSG00000172403	17732	.	.	MODIFIER	4/4	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SYNP2_HUMAN	SYNPO2	HGNC	.	.	UPI00001D75EB	SNV	SYNPO2,3_prime_UTR_variant,,ENST00000429713,;SYNPO2,intron_variant,,ENST00000434046,;SYNPO2,intron_variant,,ENST00000448416,;SYNPO2,intron_variant,,ENST00000307142,;SYNPO2,intron_variant,,ENST00000504178,;	.	11	12	SUCCESS
FGA	2243	.	GRCh37	4	155505244	155505244	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	108	16	113	0	ENST00000302053.3:c.*32T>C			ENST00000302053	NM_000508.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3787.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAGAAGACAG	NONE	.	.	.	.	.	ENSP00000306361	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000302053	Transcript	1	.	ENSG00000171560	3661	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	FIBA_HUMAN	FGA	HGNC	Q86Z09_HUMAN	.	UPI000012A75A	SNV	FGA,3_prime_UTR_variant,,ENST00000302053,;FGA,downstream_gene_variant,,ENST00000403106,;	2712	113	124	SUCCESS
RSBN1L	222194	.	GRCh37	7	77408705	77408705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	52	4	38	0	ENST00000334955.8:c.*220T>A			ENST00000334955	NM_198467.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43607.1	.	MUTECT|MUSE	.	GTCTTTAAAAA	NONE	.	.	.	.	.	ENSP00000334040	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000334955	Transcript	.	.	ENSG00000187257	24765	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	RSBNL_HUMAN	RSBN1L	HGNC	C9JM20_HUMAN	.	UPI000020F469	SNV	RSBN1L,3_prime_UTR_variant,,ENST00000334955,;RSBN1L,3_prime_UTR_variant,,ENST00000445288,;RSBN1L,downstream_gene_variant,,ENST00000441514,;RSBN1L,downstream_gene_variant,,ENST00000445512,;	2788	38	56	SUCCESS
POLA1	5422	.	GRCh37	X	25014097	25014097	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs959094157	.	TCGA-ZP-A9CY-01	TCGA-ZP-A9CY-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	471	16	384	0	ENST00000379059.3:c.*30T>C			ENST00000379059	NM_016937.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS14214.1	.	MUTECT|MUSE	.	GGGGGTAGTTG	NONE	.	.	.	.	.	ENSP00000368349	.	37/37	.	.	.	.	.	.	.	.	.	37/37	PASS	ENST00000379059	Transcript	.	.	ENSG00000101868	9173	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	DPOLA_HUMAN	POLA1	HGNC	.	.	UPI000014D383	SNV	POLA1,3_prime_UTR_variant,,ENST00000379059,;POLA1,3_prime_UTR_variant,,ENST00000379068,;	4434	384	488	SUCCESS
PCDH8	5100	.	GRCh37	13	53418597	53418597	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	13	20	0	ENST00000377942.3:c.*98G>A			ENST00000377942	NM_002590.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9438.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGCACATC	NONE	.	.	.	.	.	ENSP00000367177	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377942	Transcript	.	.	ENSG00000136099	8660	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDH8_HUMAN	PCDH8	HGNC	.	.	UPI0000072D47	SNV	PCDH8,3_prime_UTR_variant,,ENST00000338862,;PCDH8,3_prime_UTR_variant,,ENST00000377942,;	3515	20	23	SUCCESS
NLRC3	197358	.	GRCh37	16	3591684	3591684	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	4	21	0	ENST00000359128.5:c.*141G>T			ENST00000359128				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	MUTECT|MUSE	.	CACCTCTCCTT	NONE	.	.	.	.	.	ENSP00000414415	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000448023	Transcript	.	.	ENSG00000167984	29889	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	NLRC3	HGNC	C9JLH9_HUMAN	.	UPI0000246E58	SNV	NLRC3,3_prime_UTR_variant,,ENST00000301749,;NLRC3,3_prime_UTR_variant,,ENST00000359128,;NLRC3,3_prime_UTR_variant,,ENST00000448023,;CLUAP1,downstream_gene_variant,,ENST00000576634,;CLUAP1,downstream_gene_variant,,ENST00000571025,;CLUAP1,downstream_gene_variant,,ENST00000572600,;LA16c-390H2.4,upstream_gene_variant,,ENST00000573820,;NLRC3,non_coding_transcript_exon_variant,,ENST00000419350,;NLRC3,non_coding_transcript_exon_variant,,ENST00000603128,;NLRC3,downstream_gene_variant,,ENST00000603507,;	3664	21	10	SUCCESS
C18orf54	162681	.	GRCh37	18	51904653	51904653	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	18	10	46	0	ENST00000300091.5:c.*37C>T			ENST00000300091	NM_173529.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11956.1	.	RADIA|MUTECT|MUSE	.	AGTCACCACAG	NONE	.	.	.	.	.	ENSP00000300091	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000300091	Transcript	.	.	ENSG00000166845	13796	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LAS2_HUMAN	C18orf54	HGNC	J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN	.	UPI0000074279	SNV	C18orf54,3_prime_UTR_variant,,ENST00000578138,;C18orf54,3_prime_UTR_variant,,ENST00000382911,;C18orf54,3_prime_UTR_variant,,ENST00000300091,;C18orf54,downstream_gene_variant,,ENST00000582188,;C18orf54,3_prime_UTR_variant,,ENST00000579594,;	1488	46	29	SUCCESS
CDC42EP5	148170	.	GRCh37	19	54974339	54974339	+	downstream_gene_variant	3'Flank	DEL	C	C	-	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	87	23	88	0				ENST00000301200	NM_145057.2	146		0	.	.	.	.	.	-	R/X	protein_coding	YES	CCDS12895.2	437	INDELOCATOR*|VARSCANI*|PINDEL	.	CGCACGCGGTGC	NONE	.	.	hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF39	.	.	ENSP00000331647	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000333834	Transcript	.	.	ENSG00000182909	16306	.	.	HIGH	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	LENG9_HUMAN	LENG9	HGNC	.	.	UPI000059D7A2	deletion	LENG9,frameshift_variant,p.Arg146ProfsTer114,ENST00000333834,;LENG8,downstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000326764,;LENG8,downstream_gene_variant,,ENST00000376526,;LENG8,downstream_gene_variant,,ENST00000376514,;CDC42EP5,downstream_gene_variant,,ENST00000301200,;LENG8,downstream_gene_variant,,ENST00000431846,;	556	88	110	SUCCESS
LCE6A	448835	.	GRCh37	1	152816243	152816243	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	269	62	207	1	ENST00000431011.2:c.*4C>A			ENST00000431011	NM_001128600.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS44227.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGCCCAGAAG	NONE	.	.	.	.	.	ENSP00000411070	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000431011	Transcript	.	.	ENSG00000235942	31824	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	LCE6A_HUMAN	LCE6A	HGNC	.	.	UPI0000D83229	SNV	LCE6A,3_prime_UTR_variant,,ENST00000431011,;	412	208	331	SUCCESS
LHX8	431707	.	GRCh37	1	75626611	75626611	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	53	25	60	0	ENST00000294638.5:c.*31A>G			ENST00000294638	NM_001001933.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30756.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TAAGGATATAA	NONE	.	.	.	.	.	ENSP00000294638	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000294638	Transcript	.	.	ENSG00000162624	28838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHX8_HUMAN	LHX8	HGNC	Q9BYB7_HUMAN,Q6SV70_HUMAN	.	UPI00001972E8	SNV	LHX8,3_prime_UTR_variant,,ENST00000356261,;LHX8,3_prime_UTR_variant,,ENST00000294638,;LHX8,non_coding_transcript_exon_variant,,ENST00000607240,;	1766	60	79	SUCCESS
TIGIT	201633	.	GRCh37	3	114027080	114027080	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9CZ-01	TCGA-ZP-A9CZ-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	21	3	34	0	ENST00000383671.3:c.*102G>A			ENST00000383671	NM_173799.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2980.1	.	MUTECT|MUSE	.	TGTGTGTGTAT	NONE	.	.	.	.	.	ENSP00000419085	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000486257	Transcript	.	.	ENSG00000181847	26838	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TIGIT_HUMAN	TIGIT	HGNC	C9JZW6_HUMAN,C9J0B0_HUMAN	.	UPI000013F7B8	SNV	TIGIT,3_prime_UTR_variant,,ENST00000383671,;TIGIT,3_prime_UTR_variant,,ENST00000486257,;TIGIT,3_prime_UTR_variant,,ENST00000481065,;TIGIT,downstream_gene_variant,,ENST00000461158,;TIGIT,downstream_gene_variant,,ENST00000484319,;TIGIT,downstream_gene_variant,,ENST00000496848,;	1094	34	24	SUCCESS
CPT1A	1374	.	GRCh37	11	68525016	68525016	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	17	39	0	ENST00000265641.5:c.*96T>A			ENST00000265641	NM_001876.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS8185.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGAGCAGTGTT	NONE	.	.	.	.	.	ENSP00000265641	.	19/19	.	.	.	.	.	.	.	.	.	19/19	PASS	ENST00000265641	Transcript	.	.	ENSG00000110090	2328	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CPT1A_HUMAN	CPT1A	HGNC	Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN	.	UPI000013D658	SNV	CPT1A,3_prime_UTR_variant,,ENST00000265641,;CPT1A,intron_variant,,ENST00000540367,;CPT1A,intron_variant,,ENST00000376618,;CPT1A,downstream_gene_variant,,ENST00000539743,;	2573	39	46	SUCCESS
AP5M1	55745	.	GRCh37	14	57755815	57755815	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	27	0	ENST00000261558.3:c.*213G>A			ENST00000261558	NM_018229.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9729.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTATGCCAGT	NONE	.	.	.	.	.	ENSP00000261558	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000261558	Transcript	.	.	ENSG00000053770	20192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	AP5M1_HUMAN	AP5M1	HGNC	H0YIY0_HUMAN,G3V573_HUMAN	.	UPI00000719DE	SNV	AP5M1,3_prime_UTR_variant,,ENST00000261558,;AP5M1,downstream_gene_variant,,ENST00000554863,;AP5M1,downstream_gene_variant,,ENST00000431972,;AP5M1,intron_variant,,ENST00000556377,;	2092	27	24	SUCCESS
CYP4F8	11283	.	GRCh37	19	15740285	15740285	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	3	20	0				ENST00000589787				0	.	.	.	.	.	C	.	retained_intron	YES	.	.	MUTECT|MUSE	.	TGGCCAGTAGG	NONE	.	23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000589787	Transcript	.	.	ENSG00000186526	2648	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	.	CYP4F8	HGNC	.	.	.	SNV	CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589722,;CYP4F8,downstream_gene_variant,,ENST00000589778,;CYP4F8,downstream_gene_variant,,ENST00000589019,;CYP4F8,downstream_gene_variant,,ENST00000443973,;CYP4F8,downstream_gene_variant,,ENST00000325723,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590745,;CYP4F8,downstream_gene_variant,,ENST00000585349,;CYP4F8,downstream_gene_variant,,ENST00000589927,;CYP4F8,downstream_gene_variant,,ENST00000589787,;	.	20	11	SUCCESS
ZNF607	84775	.	GRCh37	19	38188849	38188849	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs777261227	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	13	9	13	0	ENST00000355202.4:c.*92A>G			ENST00000355202	NM_032689.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33006.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCCATTCCAC	NONE	.	.	.	.	.	ENSP00000347338	.	5/5	.	.	.	.	.	.	.	.	rs777261227	5/5	PASS	ENST00000355202	Transcript	.	.	ENSG00000198182	28192	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN607_HUMAN	ZNF607	HGNC	Q59G67_HUMAN,K7EN48_HUMAN	.	UPI000040BC07	SNV	ZNF607,3_prime_UTR_variant,,ENST00000395835,;ZNF607,3_prime_UTR_variant,,ENST00000355202,;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;CTD-2528L19.3,upstream_gene_variant,,ENST00000589357,;	2779	13	22	SUCCESS
PTMA	5757	.	GRCh37	2	232578007	232578007	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	557	167	914	0	ENST00000341369.7:c.*446A>G			ENST00000341369	NM_001099285.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42833.1	.	MUTECT|RADIA|SOMATICSNIPER|VARSCANS	.	CAAAAATGACA	NONE	.	.	.	.	.	ENSP00000344547	.	5/5	.	.	.	.	.	.	.	.	.	5/5	PASS	ENST00000341369	Transcript	.	.	ENSG00000187514	9623	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PTMA_HUMAN	PTMA	HGNC	.	.	UPI0000047512	SNV	PTMA,3_prime_UTR_variant,,ENST00000341369,;PTMA,3_prime_UTR_variant,,ENST00000409115,;PTMA,downstream_gene_variant,,ENST00000410064,;PTMA,downstream_gene_variant,,ENST00000412128,;PTMA,downstream_gene_variant,,ENST00000409321,;PTMA,downstream_gene_variant,,ENST00000440384,;PTMA,downstream_gene_variant,,ENST00000409683,;PTMA,downstream_gene_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;	973	914	724	SUCCESS
KHK	3795	.	GRCh37	2	27322890	27322890	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D0-01	TCGA-ZP-A9D0-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	12	4	11	0	ENST00000260598.5:c.*272A>T			ENST00000260598	NM_006488.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1734.1	.	RADIA|SOMATICSNIPER|VARSCANS	.	CTCTGACTCTT	NONE	.	.	.	.	.	ENSP00000260599	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000260599	Transcript	.	.	ENSG00000138030	6315	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KHK_HUMAN	KHK	HGNC	.	.	UPI000012DE02	SNV	KHK,3_prime_UTR_variant,,ENST00000260599,;KHK,3_prime_UTR_variant,,ENST00000260598,;CGREF1,intron_variant,,ENST00000452318,;CGREF1,intron_variant,,ENST00000402550,;CGREF1,downstream_gene_variant,,ENST00000405600,;CGREF1,downstream_gene_variant,,ENST00000260595,;CGREF1,downstream_gene_variant,,ENST00000404694,;KHK,downstream_gene_variant,,ENST00000429697,;CGREF1,downstream_gene_variant,,ENST00000312734,;CGREF1,downstream_gene_variant,,ENST00000402394,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,;CGREF1,downstream_gene_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000464371,;KHK,downstream_gene_variant,,ENST00000469936,;	1682	11	16	SUCCESS
SORCS3	22986	.	GRCh37	10	107006989	107006989	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	.	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	41	23	86	0	ENST00000369699.4:c.*391C>A			ENST00000369699		1002		0	.	.	.	.	.	A	S/Y	protein_coding	YES	CCDS7558.1	3005	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCAGTCCCAGC	NONE	.	.	hmmpanther:PTHR12106:SF10,hmmpanther:PTHR12106	.	.	ENSP00000358715	.	22/27	.	.	.	.	.	.	.	.	COSM3434033	22/27	PASS	ENST00000369701	Transcript	.	.	ENSG00000156395	16699	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	1	.	.	probably_damaging(0.982)	.	tolerated(0.11)	1	SORC3_HUMAN	SORCS3	HGNC	B7Z891_HUMAN	.	UPI0000135CE1	SNV	SORCS3,missense_variant,p.Ser1002Tyr,ENST00000369701,;SORCS3,3_prime_UTR_variant,,ENST00000369699,;	3232	86	64	SUCCESS
PITPNC1	26207	.	GRCh37	17	65689073	65689073	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1198077468	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	24	10	37	0	ENST00000581322.1:c.*69T>C			ENST00000581322				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS58588.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTTCTGATAG	NONE	.	.	.	.	.	ENSP00000464006	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000581322	Transcript	.	.	ENSG00000154217	21045	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	.	PITPNC1	HGNC	J3QS95_HUMAN,J3QRS7_HUMAN,J3QR20_HUMAN	.	UPI00001AE46B	SNV	PITPNC1,3_prime_UTR_variant,,ENST00000580974,;PITPNC1,3_prime_UTR_variant,,ENST00000335257,;PITPNC1,3_prime_UTR_variant,,ENST00000299954,;PITPNC1,3_prime_UTR_variant,,ENST00000581322,;PITPNC1,non_coding_transcript_exon_variant,,ENST00000578527,;	1068	37	35	SUCCESS
KCNJ2	3759	.	GRCh37	17	68176004	68176004	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1010655231	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	20	112	0	ENST00000243457.3:c.*3540C>T			ENST00000243457	NM_000891.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS11688.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCGCTCTGGGC	NONE	.	.	.	.	.	ENSP00000243457	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000243457	Transcript	.	.	ENSG00000123700	6263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRK2_HUMAN	KCNJ2	HGNC	.	.	UPI000004F21A	SNV	KCNJ2,3_prime_UTR_variant,,ENST00000243457,;KCNJ2,downstream_gene_variant,,ENST00000535240,;	5207	112	109	SUCCESS
MBD1	4152	.	GRCh37	18	47796315	47796315	+	intron_variant	Intron	SNP	C	C	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	8	14	0	ENST00000269468.5:c.*33-127G>C			ENST00000269468	NM_015846.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS59320.1	.	RADIA|MUTECT|MUSE	.	TTTATCTTAGT	NONE	.	.	.	.	.	ENSP00000468785	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000590208	Transcript	.	.	ENSG00000141644	6916	.	.	MODIFIER	15/15	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	.	MBD1	HGNC	K7ESN0_HUMAN	.	UPI0001F995B6	SNV	MBD1,3_prime_UTR_variant,,ENST00000339998,;MBD1,3_prime_UTR_variant,,ENST00000591416,;MBD1,intron_variant,,ENST00000588937,;MBD1,intron_variant,,ENST00000587605,;MBD1,intron_variant,,ENST00000269471,;MBD1,intron_variant,,ENST00000589541,;MBD1,intron_variant,,ENST00000585595,;MBD1,intron_variant,,ENST00000347968,;MBD1,intron_variant,,ENST00000269468,;MBD1,intron_variant,,ENST00000592060,;MBD1,intron_variant,,ENST00000590208,;MBD1,intron_variant,,ENST00000585672,;MBD1,intron_variant,,ENST00000436910,;MBD1,intron_variant,,ENST00000353909,;MBD1,intron_variant,,ENST00000349085,;MBD1,intron_variant,,ENST00000382948,;MBD1,intron_variant,,ENST00000424334,;MBD1,downstream_gene_variant,,ENST00000589733,;CCDC11,upstream_gene_variant,,ENST00000398545,;MBD1,downstream_gene_variant,,ENST00000591535,;MBD1,downstream_gene_variant,,ENST00000398495,;MBD1,downstream_gene_variant,,ENST00000398493,;MBD1,downstream_gene_variant,,ENST00000457839,;MBD1,downstream_gene_variant,,ENST00000398488,;MBD1,downstream_gene_variant,,ENST00000586884,;	.	14	13	SUCCESS
C19orf18	147685	.	GRCh37	19	58469865	58469865	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	15	5	21	0	ENST00000314391.3:c.*105G>T			ENST00000314391	NM_152474.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12967.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GATGTCCTCTT	NONE	.	.	.	.	.	ENSP00000321519	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000314391	Transcript	.	.	ENSG00000177025	28642	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CS018_HUMAN	C19orf18	HGNC	.	.	UPI000006D09E	SNV	C19orf18,3_prime_UTR_variant,,ENST00000314391,;CTD-2583A14.1,upstream_gene_variant,,ENST00000462726,;	855	21	20	SUCCESS
FAM46C	0	.	GRCh37	1	118168182	118168182	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	66	121	0	ENST00000369448.3:c.*1516T>C			ENST00000369448	NM_017709.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS896.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CAATATTGCCA	NONE	.	.	.	.	.	ENSP00000358458	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000369448	Transcript	.	.	ENSG00000183508	24712	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FA46C_HUMAN	FAM46C	HGNC	.	.	UPI0000070C6C	SNV	FAM46C,3_prime_UTR_variant,,ENST00000369448,;	2939	121	117	SUCCESS
HORMAD1	84072	.	GRCh37	1	150671067	150671067	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1016672113	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	191	160	187	1	ENST00000361824.2:c.*63A>G			ENST00000361824	NM_032132.4			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS967.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TATAATATAGG	NONE	.	.	.	.	.	ENSP00000355167	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000361824	Transcript	.	.	ENSG00000143452	25245	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HORM1_HUMAN	HORMAD1	HGNC	.	.	UPI000000DBE5	SNV	HORMAD1,3_prime_UTR_variant,,ENST00000361824,;HORMAD1,3_prime_UTR_variant,,ENST00000322343,;HORMAD1,3_prime_UTR_variant,,ENST00000368995,;HORMAD1,3_prime_UTR_variant,,ENST00000368993,;GOLPH3L,upstream_gene_variant,,ENST00000540514,;GOLPH3L,upstream_gene_variant,,ENST00000271732,;GOLPH3L,upstream_gene_variant,,ENST00000427665,;RNU6-1042P,upstream_gene_variant,,ENST00000384204,;HORMAD1,non_coding_transcript_exon_variant,,ENST00000470397,;HORMAD1,non_coding_transcript_exon_variant,,ENST00000486497,;GOLPH3L,upstream_gene_variant,,ENST00000479757,;	1354	188	352	SUCCESS
RORC	6097	.	GRCh37	1	151778915	151778915	+	downstream_gene_variant	3'Flank	SNP	C	C	T	rs201953866	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	6	13	0				ENST00000318247	NM_005060.3			0	.	T:0	.	T:0	.	T	.	protein_coding	YES	CCDS1004.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTGCGAGCG	NONE	byFrequency|byCluster|by1000G	518	.	T:0	.	ENSP00000327025	T:0.002	.	.	.	.	.	.	.	.	.	rs201953866	.	PASS	ENST00000318247	Transcript	.	T:0.0004	ENSG00000143365	10260	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	T:0	.	.	RORG_HUMAN	RORC	HGNC	Q6I9R9_HUMAN,D3DV25_HUMAN,B6ZGS6_HUMAN	.	UPI000006FBD8	SNV	RORC,3_prime_UTR_variant,,ENST00000356728,;RORC,downstream_gene_variant,,ENST00000318247,;LINGO4,upstream_gene_variant,,ENST00000368820,;RORC,downstream_gene_variant,,ENST00000392697,;RORC,downstream_gene_variant,,ENST00000480719,;	.	13	31	SUCCESS
METTL13	0	.	GRCh37	1	171765995	171765995	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	12	14	0	ENST00000361735.3:c.*99A>G			ENST00000361735	NM_015935.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1299.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTCGTATTTTT	NONE	.	.	.	.	.	ENSP00000354920	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000361735	Transcript	.	.	ENSG00000010165	24248	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MET13_HUMAN	METTL13	HGNC	C4B4C6_HUMAN	.	UPI000006DE3D	SNV	METTL13,3_prime_UTR_variant,,ENST00000458517,;METTL13,3_prime_UTR_variant,,ENST00000361735,;METTL13,3_prime_UTR_variant,,ENST00000367737,;METTL13,3_prime_UTR_variant,,ENST00000362019,;METTL13,non_coding_transcript_exon_variant,,ENST00000466643,;METTL13,intron_variant,,ENST00000476386,;	2465	14	21	SUCCESS
CDK18	5129	.	GRCh37	1	205500795	205500795	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	9	5	11	0	ENST00000506784.1:c.*289A>T			ENST00000506784				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1454.1	.	MUTECT|MUSE	.	CTCCCACCCTG	NONE	.	.	.	.	.	ENSP00000423665	.	16/16	.	.	.	.	.	.	.	.	.	16/16	PASS	ENST00000506784	Transcript	.	.	ENSG00000117266	8751	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CDK18_HUMAN	CDK18	HGNC	Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN	.	UPI000035030C	SNV	CDK18,3_prime_UTR_variant,,ENST00000360066,;CDK18,3_prime_UTR_variant,,ENST00000506784,;CDK18,downstream_gene_variant,,ENST00000478560,;CDK18,downstream_gene_variant,,ENST00000419301,;CDK18,downstream_gene_variant,,ENST00000429964,;CDK18,non_coding_transcript_exon_variant,,ENST00000484080,;CDK18,non_coding_transcript_exon_variant,,ENST00000509056,;CDK18,downstream_gene_variant,,ENST00000506489,;CDK18,downstream_gene_variant,,ENST00000515514,;CDK18,downstream_gene_variant,,ENST00000468954,;CDK18,downstream_gene_variant,,ENST00000505932,;CDK18,downstream_gene_variant,,ENST00000512008,;CDK18,downstream_gene_variant,,ENST00000459862,;CDK18,3_prime_UTR_variant,,ENST00000504648,;CDK18,3_prime_UTR_variant,,ENST00000515494,;CDK18,non_coding_transcript_exon_variant,,ENST00000489617,;CDK18,downstream_gene_variant,,ENST00000476153,;CDK18,downstream_gene_variant,,ENST00000504162,;CDK18,downstream_gene_variant,,ENST00000512922,;	2024	11	15	SUCCESS
PRND	23627	.	GRCh37	20	4708634	4708634	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs1348061432	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	27	8	36	0	ENST00000305817.2:c.*2906A>G			ENST00000305817	NM_012409.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS13081.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTGCCATGTTG	NONE	.	.	.	.	.	ENSP00000306900	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000305817	Transcript	.	.	ENSG00000171864	15748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRND_HUMAN	PRND	HGNC	.	.	UPI000003E880	SNV	PRND,3_prime_UTR_variant,,ENST00000305817,;PRNT,downstream_gene_variant,,ENST00000418528,;PRNT,downstream_gene_variant,,ENST00000423718,;PRNT,downstream_gene_variant,,ENST00000326539,;	3508	36	35	SUCCESS
EPC2	26122	.	GRCh37	2	149543989	149543989	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	75	147	0	ENST00000258484.6:c.*43A>G			ENST00000258484	NM_015630.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46422.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAGTCATTCAT	NONE	.	.	.	.	.	ENSP00000258484	.	14/14	.	.	.	.	.	.	.	.	.	14/14	PASS	ENST00000258484	Transcript	.	.	ENSG00000135999	24543	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EPC2_HUMAN	EPC2	HGNC	Q53SN6_HUMAN,Q53SL1_HUMAN,E7ETK1_HUMAN,C9J1X4_HUMAN	.	UPI00005A7FE2	SNV	EPC2,3_prime_UTR_variant,,ENST00000258484,;	2501	147	180	SUCCESS
B3GNT2	10678	.	GRCh37	2	62451341	62451341	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	105	26	169	0	ENST00000301998.4:c.*792A>T			ENST00000301998	NM_006577.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS1870.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTCAATATG	NONE	.	.	.	.	.	ENSP00000305595	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000301998	Transcript	.	.	ENSG00000170340	15629	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	B3GN2_HUMAN	B3GNT2	HGNC	.	.	UPI00000009FB	SNV	B3GNT2,3_prime_UTR_variant,,ENST00000405767,;B3GNT2,3_prime_UTR_variant,,ENST00000301998,;	2238	169	132	SUCCESS
SERPINI2	5276	.	GRCh37	3	167159803	167159803	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	11	4	20	0	ENST00000264677.4:c.*94T>C			ENST00000264677				0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3200.1	.	MUTECT|MUSE	.	AAGACATAAGA	NONE	.	.	.	.	.	ENSP00000420621	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000476257	Transcript	.	.	ENSG00000114204	8945	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPI2_HUMAN	SERPINI2	HGNC	C9J7N5_HUMAN	.	UPI0000135E26	SNV	SERPINI2,3_prime_UTR_variant,,ENST00000264677,;SERPINI2,3_prime_UTR_variant,,ENST00000461846,;SERPINI2,3_prime_UTR_variant,,ENST00000476257,;SERPINI2,downstream_gene_variant,,ENST00000471111,;SERPINI2,downstream_gene_variant,,ENST00000495108,;	1611	20	15	SUCCESS
SLC27A6	28965	.	GRCh37	5	128369147	128369147	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	22	16	27	0	ENST00000262462.4:c.*172T>A			ENST00000262462				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4145.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ATTGATATAAA	NONE	.	.	.	.	.	ENSP00000262462	.	10/10	.	.	.	.	.	.	.	.	.	10/10	PASS	ENST00000262462	Transcript	.	.	ENSG00000113396	11000	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S27A6_HUMAN	SLC27A6	HGNC	D6RAJ2_HUMAN	.	UPI0000038E83	SNV	SLC27A6,3_prime_UTR_variant,,ENST00000395266,;SLC27A6,3_prime_UTR_variant,,ENST00000262462,;SLC27A6,downstream_gene_variant,,ENST00000506176,;	3042	27	38	SUCCESS
PCDHB8	56128	.	GRCh37	5	140562308	140562308	+	downstream_gene_variant	3'Flank	SNP	G	G	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	83	43	121	0				ENST00000239444	NM_019120.3	58		0	.	.	.	.	.	C	E/D	protein_coding	YES	CCDS4251.1	174	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	ACAGAGATGTC	NONE	.	.	Superfamily_domains:SSF49313,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,PROSITE_profiles:PS50268	.	.	ENSP00000354293	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000361016	Transcript	.	.	ENSG00000196963	14546	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.064)	.	tolerated_low_confidence(0.1)	.	PCDBG_HUMAN	PCDHB16	HGNC	.	.	UPI000006D372	SNV	PCDHB16,missense_variant,p.Glu58Asp,ENST00000361016,;PCDHB8,downstream_gene_variant,,ENST00000239444,;PCDHB9,upstream_gene_variant,,ENST00000316105,;	1329	121	127	SUCCESS
PCDHB14	56122	.	GRCh37	5	140605647	140605647	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	139	48	174	0	ENST00000239449.4:c.*173T>C			ENST00000239449	NM_018934.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS4256.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GGAAATGTAAT	NONE	.	.	.	.	.	ENSP00000239449	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000239449	Transcript	.	.	ENSG00000120327	8685	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PCDBE_HUMAN	PCDHB14	HGNC	B4DPE2_HUMAN	.	UPI00001273E7	SNV	PCDHB14,3_prime_UTR_variant,,ENST00000239449,;PCDHB14,3_prime_UTR_variant,,ENST00000515856,;	2570	174	188	SUCCESS
C5orf34	375444	.	GRCh37	5	43486847	43486847	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	rs552956108	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	48	16	48	0	ENST00000306862.2:c.*170T>C			ENST00000306862	NM_198566.2			0	.	G:0	.	G:0	.	G	.	protein_coding	YES	CCDS3946.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AATACATATTT	NONE	byFrequency|by1000G	.	.	G:0.002	.	ENSP00000303490	G:0	13/13	.	.	.	.	.	.	.	.	rs552956108	13/13	PASS	ENST00000306862	Transcript	.	G:0.0004	ENSG00000172244	24738	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	G:0	.	.	CE034_HUMAN	C5orf34	HGNC	E9PBC3_HUMAN,B4E0D7_HUMAN	.	UPI000013EB9E	SNV	C5orf34,3_prime_UTR_variant,,ENST00000306862,;C5orf28,upstream_gene_variant,,ENST00000397080,;C5orf28,upstream_gene_variant,,ENST00000500337,;C5orf28,upstream_gene_variant,,ENST00000510130,;C5orf28,upstream_gene_variant,,ENST00000506860,;C5orf28,upstream_gene_variant,,ENST00000512085,;RP11-159F24.3,intron_variant,,ENST00000505645,;C5orf28,upstream_gene_variant,,ENST00000511525,;RP11-159F24.3,intron_variant,,ENST00000504469,;C5orf34,downstream_gene_variant,,ENST00000506213,;	2463	48	64	SUCCESS
EYA1	2138	.	GRCh37	8	72111545	72111545	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D1-01	TCGA-ZP-A9D1-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	24	6	32	0	ENST00000340726.3:c.*30T>A			ENST00000340726	NM_000503.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34906.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGAGCAGCTGT	NONE	.	.	.	.	.	ENSP00000342626	.	18/18	.	.	.	.	.	.	.	.	.	18/18	PASS	ENST00000340726	Transcript	1	.	ENSG00000104313	3519	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	EYA1_HUMAN	EYA1	HGNC	Q4A4D0_HUMAN	.	UPI000012A3B3	SNV	EYA1,3_prime_UTR_variant,,ENST00000388741,;EYA1,3_prime_UTR_variant,,ENST00000388742,;EYA1,3_prime_UTR_variant,,ENST00000340726,;EYA1,3_prime_UTR_variant,,ENST00000388740,;EYA1,3_prime_UTR_variant,,ENST00000388743,;EYA1,3_prime_UTR_variant,,ENST00000303824,;EYA1,downstream_gene_variant,,ENST00000419131,;RP11-326E22.1,non_coding_transcript_exon_variant,,ENST00000521685,;EYA1,3_prime_UTR_variant,,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	2449	32	30	SUCCESS
ADRA2A	150	.	GRCh37	10	112839625	112839625	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	89	69	137	0	ENST00000280155.2:c.*473C>A			ENST00000280155	NM_000681.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS7569.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCCCGCTGTAA	NONE	.	.	.	.	.	ENSP00000280155	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000280155	Transcript	.	.	ENSG00000150594	281	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ADA2A_HUMAN	ADRA2A	HGNC	.	.	UPI000018CE86	SNV	ADRA2A,3_prime_UTR_variant,,ENST00000280155,;	2836	137	158	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	6	27	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	MUTECT|MUSE|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	27	23	SUCCESS
EIF5AL1	143244	.	GRCh37	10	81273596	81273596	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	83	8	100	0	ENST00000520547.2:c.*726A>G			ENST00000520547	NM_001099692.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS53546.1	.	MUTECT|MUSE|VARSCANS	.	CATGCACTTGT	NONE	.	.	.	.	.	ENSP00000430706	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000520547	Transcript	.	.	ENSG00000253626	17419	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	IF5AL_HUMAN	EIF5AL1	HGNC	.	.	UPI00001972AD	SNV	EIF5AL1,3_prime_UTR_variant,,ENST00000520547,;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;	1240	100	91	SUCCESS
NFYB	4801	.	GRCh37	12	104513301	104513301	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	8	5	16	0	ENST00000240055.3:c.*214A>T			ENST00000240055	NM_006166.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9098.1	.	MUTECT|MUSE	.	TTTAATACCTT	NONE	.	.	.	.	.	ENSP00000240055	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000240055	Transcript	.	.	ENSG00000120837	7805	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NFYB_HUMAN	NFYB	HGNC	.	.	UPI0000127178	SNV	NFYB,3_prime_UTR_variant,,ENST00000551727,;NFYB,3_prime_UTR_variant,,ENST00000240055,;NFYB,downstream_gene_variant,,ENST00000551446,;NFYB,downstream_gene_variant,,ENST00000550189,;	1066	16	13	SUCCESS
C15orf37	0	.	GRCh37	15	80215526	80215526	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs771427001	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	72	27	94	1	ENST00000560255.1:c.*18G>A			ENST00000560255		3		0	.	.	.	.	.	A	G/D	protein_coding	YES	.	8	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCCAGGTCGTC	NONE	byFrequency	.	Low_complexity_(Seg):seg	.	.	ENSP00000440412	.	1/1	.	.	.	.	.	.	.	.	rs771427001	1/1	PASS	ENST00000542003	Transcript	.	.	ENSG00000257028	.	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	unknown(0)	.	tolerated_low_confidence(0.13)	.	.	C15ORF37	Uniprot_gn	Q96AL6_HUMAN	.	UPI0000070D44	SNV	C15ORF37,missense_variant,p.Gly3Asp,ENST00000542003,;C15orf37,3_prime_UTR_variant,,ENST00000560255,;ST20-MTHFS,intron_variant,,ENST00000479961,;ST20,intron_variant,,ENST00000485386,;ST20-MTHFS,intron_variant,,ENST00000494999,;	20	95	99	SUCCESS
WSCD1	23302	.	GRCh37	17	6024018	6024018	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs200167618	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	10	28	1	ENST00000317744.5:c.*37G>A			ENST00000317744	NM_015253.1			0	.	A:0	.	A:0.0014	.	A	.	protein_coding	YES	CCDS32538.1	.	SOMATICSNIPER|VARSCANS	.	GTGACGCAATC	NONE	byCluster|by1000G	.	.	A:0	.	ENSP00000460825	A:0	9/9	.	.	.	.	.	.	.	.	rs200167618	9/9	PASS	ENST00000574946	Transcript	.	A:0.0002	ENSG00000179314	29060	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	A:0	.	.	WSCD1_HUMAN	WSCD1	HGNC	I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN	.	UPI0000197208	SNV	WSCD1,3_prime_UTR_variant,,ENST00000573634,;WSCD1,3_prime_UTR_variant,,ENST00000574232,;WSCD1,3_prime_UTR_variant,,ENST00000317744,;WSCD1,3_prime_UTR_variant,,ENST00000539421,;WSCD1,3_prime_UTR_variant,,ENST00000574946,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	2155	29	17	SUCCESS
DDX39A	10212	.	GRCh37	19	14519705	14519705	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1470003893	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	54	28	72	0	ENST00000242776.4:c.*43A>G			ENST00000242776	NM_005804.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS12308.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GAAGCTGCATG	NONE	.	.	.	.	.	ENSP00000242776	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000242776	Transcript	.	.	ENSG00000123136	17821	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DX39A_HUMAN	DDX39A	HGNC	K7ENP6_HUMAN,K7EN69_HUMAN,K7EL56_HUMAN,K7EIL8_HUMAN	.	UPI00000713A1	SNV	DDX39A,3_prime_UTR_variant,,ENST00000242776,;DDX39A,downstream_gene_variant,,ENST00000454233,;CD97,downstream_gene_variant,,ENST00000242786,;CD97,downstream_gene_variant,,ENST00000357355,;CD97,downstream_gene_variant,,ENST00000358600,;DDX39A,downstream_gene_variant,,ENST00000586993,;DDX39A,downstream_gene_variant,,ENST00000592632,;DDX39A,downstream_gene_variant,,ENST00000589675,;DDX39A,downstream_gene_variant,,ENST00000590315,;DDX39A,downstream_gene_variant,,ENST00000590696,;DDX39A,downstream_gene_variant,,ENST00000591275,;DDX39A,downstream_gene_variant,,ENST00000590239,;CTC-548K16.5,upstream_gene_variant,,ENST00000590626,;DDX39A,downstream_gene_variant,,ENST00000592927,;DDX39A,downstream_gene_variant,,ENST00000593008,;DDX39A,3_prime_UTR_variant,,ENST00000588692,;DDX39A,3_prime_UTR_variant,,ENST00000324340,;DDX39A,non_coding_transcript_exon_variant,,ENST00000589318,;DDX39A,non_coding_transcript_exon_variant,,ENST00000587730,;DDX39A,downstream_gene_variant,,ENST00000588542,;DDX39A,downstream_gene_variant,,ENST00000592391,;DDX39A,downstream_gene_variant,,ENST00000590260,;CD97,downstream_gene_variant,,ENST00000591565,;DDX39A,downstream_gene_variant,,ENST00000586558,;DDX39A,downstream_gene_variant,,ENST00000590556,;DDX39A,downstream_gene_variant,,ENST00000593026,;	1429	72	82	SUCCESS
CDKN2C	1031	.	GRCh37	1	51440054	51440054	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	11	11	0	ENST00000262662.1:c.*112A>C			ENST00000262662				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS555.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGCTAAATTTT	NONE	.	.	.	.	.	ENSP00000262662	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000262662	Transcript	.	.	ENSG00000123080	1789	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CDN2C_HUMAN	CDKN2C	HGNC	Q9P1T2_HUMAN,Q6ICV4_HUMAN	.	UPI0000047FD9	SNV	CDKN2C,3_prime_UTR_variant,,ENST00000371761,;CDKN2C,3_prime_UTR_variant,,ENST00000396148,;CDKN2C,3_prime_UTR_variant,,ENST00000262662,;	2653	11	16	SUCCESS
NOP58	51602	.	GRCh37	2	203168226	203168226	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	75	123	169	0	ENST00000264279.5:c.*67A>G			ENST00000264279	NM_015934.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2353.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATACCAGGGAT	NONE	.	.	.	.	.	ENSP00000264279	.	15/15	.	.	.	.	.	.	.	.	.	15/15	PASS	ENST00000264279	Transcript	.	.	ENSG00000055044	29926	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NOP58_HUMAN	NOP58	HGNC	.	.	UPI0000130366	SNV	NOP58,3_prime_UTR_variant,,ENST00000264279,;NOP58,downstream_gene_variant,,ENST00000478508,;	1883	169	199	SUCCESS
NR1D2	9975	.	GRCh37	3	24019158	24019158	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	4	4	9	0	ENST00000312521.4:c.*248G>T			ENST00000312521	NM_005126.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33718.1	.	MUTECT|MUSE	.	CTGAAGTATAA	NONE	.	.	.	.	.	ENSP00000310006	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000312521	Transcript	.	.	ENSG00000174738	7963	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NR1D2_HUMAN	NR1D2	HGNC	.	.	UPI0000209A6C	SNV	NR1D2,3_prime_UTR_variant,,ENST00000312521,;NR1D2,downstream_gene_variant,,ENST00000492552,;NR1D2,3_prime_UTR_variant,,ENST00000383773,;	2307	9	8	SUCCESS
CARD6	84674	.	GRCh37	5	40854692	40854692	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	5	18	22	0	ENST00000254691.5:c.*144A>G			ENST00000254691	NM_032587.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS3935.1	.	MUTECT|MUSE	.	TGGATATCTTT	NONE	.	.	.	.	.	ENSP00000254691	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000254691	Transcript	.	.	ENSG00000132357	16394	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CARD6_HUMAN	CARD6	HGNC	.	.	UPI000013CE50	SNV	CARD6,3_prime_UTR_variant,,ENST00000254691,;CARD6,intron_variant,,ENST00000381677,;	3457	22	23	SUCCESS
KBTBD11	9920	.	GRCh37	8	1952449	1952449	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	66	32	139	0	ENST00000320248.3:c.*1219A>T			ENST00000320248	NM_014867.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34795.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATCAGTTGG	NONE	.	.	.	.	.	ENSP00000321544	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000320248	Transcript	.	.	ENSG00000176595	29104	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	KBTBB_HUMAN	KBTBD11	HGNC	.	.	UPI0000139C1D	SNV	KBTBD11,3_prime_UTR_variant,,ENST00000320248,;	4057	139	99	SUCCESS
PLEKHF2	79666	.	GRCh37	8	96168172	96168172	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ZP-A9D2-01	TCGA-ZP-A9D2-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	165	75	252	0	ENST00000315367.3:c.*1150T>G			ENST00000315367	NM_024613.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS6267.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTTTTGTAA	NONE	.	.	.	.	.	ENSP00000322373	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000315367	Transcript	.	.	ENSG00000175895	20757	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PKHF2_HUMAN	PLEKHF2	HGNC	.	.	UPI0000035DB0	SNV	PLEKHF2,3_prime_UTR_variant,,ENST00000315367,;PLEKHF2,downstream_gene_variant,,ENST00000519516,;	2141	252	240	SUCCESS
KCNMA1	3778	.	GRCh37	10	79397504	79397504	+	upstream_gene_variant	5'Flank	SNP	C	C	T	rs192912320	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	22	8	26	0				ENST00000286628	NM_001161352.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53545.1	.	SOMATICSNIPER|VARSCANS	.	GCCGCCGCCGC	NONE	by1000G	104	.	.	.	ENSP00000385806	.	.	.	.	.	.	.	.	.	.	rs192912320	.	PASS	ENST00000404857	Transcript	1	.	ENSG00000156113	6284	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	KCMA1_HUMAN	KCNMA1	HGNC	.	.	UPI00003519E8	SNV	KCNMA1,5_prime_UTR_variant,,ENST00000480683,;KCNMA1,5_prime_UTR_variant,,ENST00000481070,;KCNMA1,5_prime_UTR_variant,,ENST00000372443,;KCNMA1,5_prime_UTR_variant,,ENST00000286627,;KCNMA1,5_prime_UTR_variant,,ENST00000404771,;KCNMA1,5_prime_UTR_variant,,ENST00000372440,;KCNMA1,upstream_gene_variant,,ENST00000404857,;KCNMA1,upstream_gene_variant,,ENST00000372437,;KCNMA1,upstream_gene_variant,,ENST00000406533,;KCNMA1,upstream_gene_variant,,ENST00000354353,;KCNMA1,upstream_gene_variant,,ENST00000457953,;KCNMA1,upstream_gene_variant,,ENST00000372408,;KCNMA1,upstream_gene_variant,,ENST00000372403,;KCNMA1,upstream_gene_variant,,ENST00000372421,;KCNMA1,upstream_gene_variant,,ENST00000286628,;	.	26	30	SUCCESS
GRIA4	2893	.	GRCh37	11	105850471	105850472	+	3_prime_UTR_variant	3'UTR	INS	-	-	A	rs748260664	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	53	14	83	0	ENST00000282499.5:c.*12dup			ENST00000282499	NM_000829.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8333.1	.	INDELOCATOR|VARSCANI	.	AAAACCAAAAA	NONE	byFrequency	.	.	.	.	ENSP00000282499	.	17/17	.	.	.	.	.	.	.	.	rs748260664	17/17	PASS	ENST00000282499	Transcript	.	.	ENSG00000152578	4574	7	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GRIA4_HUMAN	GRIA4	HGNC	E9PJZ5_HUMAN	.	UPI000013DCE6	insertion	GRIA4,3_prime_UTR_variant,,ENST00000282499,;GRIA4,3_prime_UTR_variant,,ENST00000530497,;GRIA4,3_prime_UTR_variant,,ENST00000393127,;GRIA4,downstream_gene_variant,,ENST00000525187,;RNU6-277P,upstream_gene_variant,,ENST00000516272,;GRIA4,non_coding_transcript_exon_variant,,ENST00000533094,;	3160-3161	83	67	SUCCESS
NGFR	4804	.	GRCh37	17	47590457	47590457	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	rs939142432	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	10	6	11	0	ENST00000172229.3:c.*86T>G			ENST00000172229	NM_002507.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11549.1	.	MUTECT|MUSE	.	CCCTTTGGGGG	NONE	.	.	.	.	.	ENSP00000172229	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000172229	Transcript	.	.	ENSG00000064300	7809	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	TNR16_HUMAN	NGFR	HGNC	B4E096_HUMAN	.	UPI0000049854	SNV	NGFR,3_prime_UTR_variant,,ENST00000172229,;NGFR,3_prime_UTR_variant,,ENST00000504201,;RP5-1029K10.2,intron_variant,,ENST00000514506,;	1495	11	16	SUCCESS
PNMAL1	0	.	GRCh37	19	46971671	46971671	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	11	35	0	ENST00000313683.10:c.*147G>C			ENST00000313683	NM_018215.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33059.1	.	MUTECT|MUSE	.	AAGACCTCACC	NONE	.	.	.	.	.	ENSP00000318131	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000313683	Transcript	.	.	ENSG00000182013	25578	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PNML1_HUMAN	PNMAL1	HGNC	.	.	UPI0000231C97	SNV	PNMAL1,3_prime_UTR_variant,,ENST00000438932,;PNMAL1,3_prime_UTR_variant,,ENST00000313683,;PNMAL1,downstream_gene_variant,,ENST00000602246,;	1773	35	36	SUCCESS
PFKL	5211	.	GRCh37	21	45746820	45746820	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	34	18	50	0	ENST00000349048.4:c.*75C>T			ENST00000349048	NM_002626.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS33582.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	CTGGGCTGTTG	NONE	.	.	.	.	.	ENSP00000269848	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000349048	Transcript	.	.	ENSG00000141959	8876	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	K6PL_HUMAN	PFKL	HGNC	Q9BSP4_HUMAN,Q7L2M7_HUMAN,Q6MZK4_HUMAN	.	UPI0000169D5F	SNV	PFKL,3_prime_UTR_variant,,ENST00000349048,;PFKL,3_prime_UTR_variant,,ENST00000403390,;C21orf2,downstream_gene_variant,,ENST00000397956,;C21orf2,downstream_gene_variant,,ENST00000325223,;C21orf2,downstream_gene_variant,,ENST00000339818,;AP001062.7,upstream_gene_variant,,ENST00000448927,;AP001062.8,downstream_gene_variant,,ENST00000422357,;AP001062.8,downstream_gene_variant,,ENST00000444409,;C21orf2,downstream_gene_variant,,ENST00000470196,;C21orf2,downstream_gene_variant,,ENST00000496321,;PFKL,3_prime_UTR_variant,,ENST00000397961,;PFKL,non_coding_transcript_exon_variant,,ENST00000460521,;PFKL,non_coding_transcript_exon_variant,,ENST00000474114,;PFKL,non_coding_transcript_exon_variant,,ENST00000498841,;PFKL,non_coding_transcript_exon_variant,,ENST00000466134,;PFKL,non_coding_transcript_exon_variant,,ENST00000467315,;C21orf2,downstream_gene_variant,,ENST00000462742,;PFKL,downstream_gene_variant,,ENST00000460020,;PFKL,downstream_gene_variant,,ENST00000495274,;AP001062.1,upstream_gene_variant,,ENST00000333748,;	2473	50	52	SUCCESS
DUSP7	1849	.	GRCh37	3	52084785	52084785	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	35	21	57	0	ENST00000495880.1:c.*46C>G			ENST00000495880				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS33766.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CTGTGGAGAGC	NONE	.	.	.	.	.	ENSP00000417183	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000495880	Transcript	.	.	ENSG00000164086	3073	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DUS7_HUMAN	DUSP7	HGNC	.	.	UPI0000185FA8	SNV	DUSP7,3_prime_UTR_variant,,ENST00000495880,;DUSP7,3_prime_UTR_variant,,ENST00000296483,;DUSP7,downstream_gene_variant,,ENST00000469623,;	1490	57	56	SUCCESS
NPY2R	4887	.	GRCh37	4	156137509	156137509	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	136	51	190	0	ENST00000329476.3:c.*1272G>T			ENST00000329476	NM_000910.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3791.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AAATTGTTATT	NONE	.	.	.	.	.	ENSP00000332591	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000329476	Transcript	.	.	ENSG00000185149	7957	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NPY2R_HUMAN	NPY2R	HGNC	.	.	UPI000003B342	SNV	NPY2R,3_prime_UTR_variant,,ENST00000506608,;NPY2R,3_prime_UTR_variant,,ENST00000329476,;	2907	190	187	SUCCESS
DXO	1797	.	GRCh37	6	31937616	31937616	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	55	27	93	0	ENST00000337523.5:c.*38A>T			ENST00000337523	NM_005510.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4732.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTATCTGCACA	NONE	.	.	.	.	.	ENSP00000364498	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000375349	Transcript	.	.	ENSG00000204348	2992	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	DXO_HUMAN	DXO	HGNC	.	.	UPI00000710F6	SNV	DXO,3_prime_UTR_variant,,ENST00000495340,;DXO,3_prime_UTR_variant,,ENST00000375349,;DXO,3_prime_UTR_variant,,ENST00000337523,;SKIV2L,downstream_gene_variant,,ENST00000544581,;SKIV2L,downstream_gene_variant,,ENST00000491994,;STK19,upstream_gene_variant,,ENST00000375331,;SKIV2L,downstream_gene_variant,,ENST00000375394,;DXO,downstream_gene_variant,,ENST00000375356,;STK19,upstream_gene_variant,,ENST00000460018,;STK19,upstream_gene_variant,,ENST00000375333,;DXO,non_coding_transcript_exon_variant,,ENST00000478221,;SKIV2L,downstream_gene_variant,,ENST00000470453,;STK19,upstream_gene_variant,,ENST00000463823,;SKIV2L,downstream_gene_variant,,ENST00000461915,;SKIV2L,downstream_gene_variant,,ENST00000471818,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;STK19,upstream_gene_variant,,ENST00000466336,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;DXO,non_coding_transcript_exon_variant,,ENST00000491327,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;DXO,downstream_gene_variant,,ENST00000492946,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;DXO,downstream_gene_variant,,ENST00000480240,;DXO,downstream_gene_variant,,ENST00000498357,;STK19,upstream_gene_variant,,ENST00000479644,;STK19,upstream_gene_variant,,ENST00000483801,;SKIV2L,downstream_gene_variant,,ENST00000474839,;STK19,upstream_gene_variant,,ENST00000466132,;SKIV2L,downstream_gene_variant,,ENST00000465703,;DXO,downstream_gene_variant,,ENST00000460058,;STK19,upstream_gene_variant,,ENST00000492583,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,downstream_gene_variant,,ENST00000485349,;	1641	93	83	SUCCESS
ZNF273	10793	.	GRCh37	7	64389451	64389451	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	47	30	74	0	ENST00000476120.1:c.*35T>G			ENST00000476120	NM_021148.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS5528.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCGGTTGTCAC	NONE	.	.	.	.	.	ENSP00000418719	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000476120	Transcript	.	.	ENSG00000198039	13067	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZN273_HUMAN	ZNF273	HGNC	.	.	UPI0000DACAC5	SNV	ZNF273,3_prime_UTR_variant,,ENST00000476120,;ZNF273,downstream_gene_variant,,ENST00000545510,;ZNF273,downstream_gene_variant,,ENST00000319636,;ZNF273,non_coding_transcript_exon_variant,,ENST00000527278,;ZNF273,downstream_gene_variant,,ENST00000489672,;ZNF273,3_prime_UTR_variant,,ENST00000395375,;VN1R42P,upstream_gene_variant,,ENST00000424651,;	1816	74	77	SUCCESS
FUT7	2529	.	GRCh37	9	139925156	139925156	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs886104687	.	TCGA-ZP-A9D4-01	TCGA-ZP-A9D4-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	4	60	0	ENST00000314412.6:c.*6G>A			ENST00000314412	NM_004479.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS7022.1	.	MUTECT|MUSE	.	GCCAGCGGATC	NONE	.	.	.	.	.	ENSP00000318142	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000314412	Transcript	.	.	ENSG00000180549	4018	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FUT7_HUMAN	FUT7	HGNC	.	.	UPI000012ADAF	SNV	FUT7,3_prime_UTR_variant,,ENST00000314412,;C9orf139,intron_variant,,ENST00000314330,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000425423,;	2054	60	64	SUCCESS
TRIAP1	51499	.	GRCh37	12	120882665	120882665	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	72	13	76	0	ENST00000546954.1:c.*10T>G			ENST00000546954	NM_016399.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS9198.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AGGTGACTGTC	NONE	.	.	.	.	.	ENSP00000449795	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000546954	Transcript	.	.	ENSG00000170855	26937	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TRIA1_HUMAN	TRIAP1	HGNC	.	.	UPI0000124E0B	SNV	TRIAP1,3_prime_UTR_variant,,ENST00000546954,;AL021546.6,intron_variant,,ENST00000551806,;GATC,upstream_gene_variant,,ENST00000229384,;COX6A1,downstream_gene_variant,,ENST00000229379,;GATC,upstream_gene_variant,,ENST00000551765,;TRIAP1,non_coding_transcript_exon_variant,,ENST00000302432,;COX6A1,downstream_gene_variant,,ENST00000549525,;GATC,upstream_gene_variant,,ENST00000548171,;	281	76	86	SUCCESS
C17orf72	0	.	GRCh37	17	62079994	62079994	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	18	9	30	0	ENST00000412177.1:c.*873T>C			ENST00000412177	NM_001164257.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54157.1	.	MUTECT|MUSE	.	CAATGTCCCAA	NONE	.	118	.	.	.	ENSP00000396936	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000425164	Transcript	.	.	ENSG00000224383	25673	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	CQ072_HUMAN	C17orf72	HGNC	.	.	UPI0001AE6728	SNV	C17orf72,3_prime_UTR_variant,,ENST00000412177,;ICAM2,3_prime_UTR_variant,,ENST00000418105,;ICAM2,3_prime_UTR_variant,,ENST00000578379,;ICAM2,3_prime_UTR_variant,,ENST00000579788,;ICAM2,3_prime_UTR_variant,,ENST00000579687,;ICAM2,3_prime_UTR_variant,,ENST00000578892,;ICAM2,3_prime_UTR_variant,,ENST00000449662,;ICAM2,3_prime_UTR_variant,,ENST00000412356,;C17orf72,downstream_gene_variant,,ENST00000579184,;C17orf72,downstream_gene_variant,,ENST00000539996,;C17orf72,downstream_gene_variant,,ENST00000583891,;C17orf72,downstream_gene_variant,,ENST00000580752,;ICAM2,downstream_gene_variant,,ENST00000584084,;ICAM2,downstream_gene_variant,,ENST00000578313,;C17orf72,downstream_gene_variant,,ENST00000425164,;C17orf72,downstream_gene_variant,,ENST00000582540,;ICAM2,downstream_gene_variant,,ENST00000583366,;C17orf72,downstream_gene_variant,,ENST00000577953,;RP11-214C8.2,upstream_gene_variant,,ENST00000580942,;RP11-214C8.2,upstream_gene_variant,,ENST00000577545,;ICAM2,non_coding_transcript_exon_variant,,ENST00000581417,;ICAM2,downstream_gene_variant,,ENST00000584403,;ICAM2,3_prime_UTR_variant,,ENST00000583684,;C17orf72,non_coding_transcript_exon_variant,,ENST00000582530,;C17orf72,non_coding_transcript_exon_variant,,ENST00000225760,;ICAM2,downstream_gene_variant,,ENST00000580389,;ICAM2,downstream_gene_variant,,ENST00000580011,;ICAM2,downstream_gene_variant,,ENST00000583186,;C17orf72,downstream_gene_variant,,ENST00000579222,;	.	30	27	SUCCESS
ABCA8	10351	.	GRCh37	17	66864219	66864219	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	rs1258785684	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	177	11	178	0	ENST00000269080.2:c.*7A>G			ENST00000269080	NM_007168.2			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS11680.1	.	MUTECT|MUSE	.	GAATTTGGGGT	NONE	.	.	.	.	.	ENSP00000269080	.	38/38	.	.	.	.	.	.	.	.	.	38/38	PASS	ENST00000269080	Transcript	.	.	ENSG00000141338	38	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	ABCA8_HUMAN	ABCA8	HGNC	K7ELK9_HUMAN	.	UPI000004C4B7	SNV	ABCA8,3_prime_UTR_variant,,ENST00000269080,;ABCA8,3_prime_UTR_variant,,ENST00000430352,;ABCA8,3_prime_UTR_variant,,ENST00000586539,;	4891	178	188	SUCCESS
SALL3	27164	.	GRCh37	18	76757383	76757383	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	31	13	60	0				ENST00000537592	NM_171999.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS12013.1	.	MUTECT|MUSE	.	GGCCTCCGACC	NONE	.	61	.	.	.	ENSP00000441823	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000537592	Transcript	.	.	ENSG00000256463	10527	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SALL3_HUMAN	SALL3	HGNC	.	.	UPI000013E5A7	SNV	SALL3,3_prime_UTR_variant,,ENST00000575389,;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000536229,;SALL3,downstream_gene_variant,,ENST00000537592,;	.	60	44	SUCCESS
ZNF493	284443	.	GRCh37	19	21608547	21608550	+	3_prime_UTR_variant	3'UTR	DEL	AAGA	AAGA	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	AAGA	AAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	93	38	130	0	ENST00000355504.4:c.*761_*764delinsG			ENST00000355504	NM_175910.6			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS42536.1	.	INDELOCATOR*|VARSCANI*|PINDEL	.	AAACATAAGATAACT	NONE	.	.	.	.	.	ENSP00000376110	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000392288	Transcript	.	.	ENSG00000196268	23708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZN493_HUMAN	ZNF493	HGNC	.	.	UPI000022ABBF	substitution	ZNF493,3_prime_UTR_variant,,ENST00000355504,;ZNF493,3_prime_UTR_variant,,ENST00000392288,;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	3195-3198	130	131	SUCCESS
FLG	2312	.	GRCh37	1	152275037	152275037	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	28	9	20	0	ENST00000368799.1:c.*139T>C			ENST00000368799	NM_002016.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS30860.1	.	MUTECT|MUSE	.	ACCAAACTAAT	NONE	.	.	.	.	.	ENSP00000357789	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000368799	Transcript	.	.	ENSG00000143631	3748	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	FILA_HUMAN	FLG	HGNC	Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN	.	UPI0000470CB3	SNV	FLG,3_prime_UTR_variant,,ENST00000368799,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	12361	20	37	SUCCESS
KPRP	448834	.	GRCh37	1	152734035	152734035	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	131	13	106	0	ENST00000606109.1:c.*231C>T			ENST00000606109				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30862.1	.	MUTECT|MUSE|VARSCANS	.	TCTAGCCAGAC	NONE	.	.	.	.	.	ENSP00000357762	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000368773	Transcript	.	.	ENSG00000203786	31823	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	KPRP_HUMAN	KPRP	HGNC	.	.	UPI0000199942	SNV	KPRP,3_prime_UTR_variant,,ENST00000368773,;KPRP,3_prime_UTR_variant,,ENST00000606109,;	2029	106	144	SUCCESS
SPRR2B	6701	.	GRCh37	1	153043050	153043050	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	76	7	75	0	ENST00000368755.2:c.*47T>G			ENST00000368755				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS30865.1	.	MUTECT|MUSE	.	AGGTGAGCCAA	NONE	.	.	.	.	.	ENSP00000340703	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000341611	Transcript	.	.	ENSG00000196805	11262	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SPR2B_HUMAN	SPRR2B	HGNC	.	.	UPI0000135D6F	SNV	SPRR2B,3_prime_UTR_variant,,ENST00000368755,;SPRR2B,3_prime_UTR_variant,,ENST00000368752,;SPRR2B,3_prime_UTR_variant,,ENST00000341611,;	329	75	83	SUCCESS
CHST10	9486	.	GRCh37	2	101009642	101009642	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	47	20	60	0	ENST00000264249.3:c.*65C>T			ENST00000264249	NM_004854.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS2047.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCTGGGCTCAG	NONE	.	.	.	.	.	ENSP00000264249	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000264249	Transcript	.	.	ENSG00000115526	19650	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CHSTA_HUMAN	CHST10	HGNC	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN	.	UPI0000073357	SNV	CHST10,3_prime_UTR_variant,,ENST00000264249,;CHST10,3_prime_UTR_variant,,ENST00000542617,;CHST10,downstream_gene_variant,,ENST00000420858,;CHST10,downstream_gene_variant,,ENST00000448989,;CHST10,downstream_gene_variant,,ENST00000409046,;CHST10,downstream_gene_variant,,ENST00000409701,;CHST10,downstream_gene_variant,,ENST00000421474,;CHST10,downstream_gene_variant,,ENST00000484382,;	1522	60	67	SUCCESS
ACPP	0	.	GRCh37	3	132086778	132086778	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	6	7	11	0	ENST00000351273.7:c.*112C>T			ENST00000351273	NM_001134194.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46916.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE	.	CCTGCCTTTTG	NONE	.	.	.	.	.	ENSP00000323036	.	11/11	.	.	.	.	.	.	.	.	.	11/11	PASS	ENST00000351273	Transcript	.	.	ENSG00000014257	125	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	PPAP_HUMAN	ACPP	HGNC	Q6LBH1_HUMAN	.	UPI000020A26F	SNV	ACPP,3_prime_UTR_variant,,ENST00000351273,;	1419	11	13	SUCCESS
U2SURP	23350	.	GRCh37	3	142775377	142775377	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	80	24	113	0	ENST00000473835.2:c.*85C>T			ENST00000473835	NM_001080415.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS46928.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	AAAATCAAATG	NONE	.	.	.	.	.	ENSP00000418563	.	28/28	.	.	.	.	.	.	.	.	.	28/28	PASS	ENST00000473835	Transcript	.	.	ENSG00000163714	30855	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	SR140_HUMAN	U2SURP	HGNC	C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN	.	UPI0000160746	SNV	U2SURP,3_prime_UTR_variant,,ENST00000467348,;U2SURP,3_prime_UTR_variant,,ENST00000473835,;U2SURP,3_prime_UTR_variant,,ENST00000493598,;U2SURP,3_prime_UTR_variant,,ENST00000397933,;U2SURP,downstream_gene_variant,,ENST00000480029,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,downstream_gene_variant,,ENST00000488497,;	3265	113	104	SUCCESS
ARL10	285598	.	GRCh37	5	175798911	175798911	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs773849263	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	60	9	74	0	ENST00000310389.5:c.*13C>T			ENST00000310389	NM_173664.4			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4400.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	CTCTCCTGCTT	NONE	.	.	.	.	.	ENSP00000308496	.	4/4	.	.	.	.	.	.	.	.	rs773849263	4/4	PASS	ENST00000310389	Transcript	.	.	ENSG00000175414	22042	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	ARL10_HUMAN	ARL10	HGNC	.	.	UPI000006FEF9	SNV	ARL10,3_prime_UTR_variant,,ENST00000310389,;ARL10,intron_variant,,ENST00000503175,;ARL10,intron_variant,,ENST00000514533,;MIR1271,downstream_gene_variant,,ENST00000408537,;ARL10,downstream_gene_variant,,ENST00000507151,;	844	74	70	SUCCESS
RALYL	138046	.	GRCh37	8	85833374	85833374	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	17	30	50	1	ENST00000521268.1:c.*228C>T			ENST00000521268	NM_173848.5			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55252.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TTTCCCCTTTG	NONE	.	.	.	.	.	ENSP00000430128	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000517638	Transcript	.	.	ENSG00000184672	27036	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	RALYL	HGNC	G3V129_HUMAN,E5RIX9_HUMAN,E5RG71_HUMAN	.	UPI00002108E6	SNV	RALYL,3_prime_UTR_variant,,ENST00000523850,;RALYL,3_prime_UTR_variant,,ENST00000521268,;RALYL,3_prime_UTR_variant,,ENST00000522455,;RALYL,3_prime_UTR_variant,,ENST00000517638,;RALYL,3_prime_UTR_variant,,ENST00000521695,;RALYL,3_prime_UTR_variant,,ENST00000521376,;RALYL,3_prime_UTR_variant,,ENST00000518566,;snoU13,upstream_gene_variant,,ENST00000458801,;RALYL,non_coding_transcript_exon_variant,,ENST00000518065,;	1267	51	47	SUCCESS
ZBTB43	23099	.	GRCh37	9	129599592	129599592	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	92	25	145	0				ENST00000373457				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6867.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TTTTGGCCACT	NONE	.	.	.	.	.	ENSP00000362563	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000373464	Transcript	.	.	ENSG00000169155	17908	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	ZBT43_HUMAN	ZBTB43	HGNC	Q5JU97_HUMAN	.	UPI000013C34F	SNV	ZBTB43,3_prime_UTR_variant,,ENST00000373464,;ZBTB43,3_prime_UTR_variant,,ENST00000449886,;ZBTB43,downstream_gene_variant,,ENST00000373457,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,downstream_gene_variant,,ENST00000497064,;	5068	145	118	SUCCESS
LAMP2	3920	.	GRCh37	X	119562228	119562228	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	.	TCGA-ZS-A9CD-01	TCGA-ZS-A9CD-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	124	8	97	0				ENST00000200639				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS48159.1	.	MUTECT|MUSE	.	TCACTGAAGTT	NONE	.	.	.	.	.	ENSP00000408411	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000434600	Transcript	.	.	ENSG00000005893	6501	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	LAMP2_HUMAN	LAMP2	HGNC	.	.	UPI0000211E47	SNV	LAMP2,3_prime_UTR_variant,,ENST00000538785,;LAMP2,3_prime_UTR_variant,,ENST00000434600,;LAMP2,downstream_gene_variant,,ENST00000200639,;LAMP2,downstream_gene_variant,,ENST00000486593,;	1543	97	133	SUCCESS
CD59	966	.	GRCh37	11	33731520	33731520	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	15	6	8	0	ENST00000351554.3:c.*152C>G			ENST00000351554				0	.	.	.	.	.	C	.	protein_coding	YES	CCDS7886.1	.	MUTECT|MUSE|VARSCANS	.	TCCCAGAGCCC	NONE	.	.	.	.	.	ENSP00000379191	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000395850	Transcript	.	.	ENSG00000085063	1689	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CD59_HUMAN	CD59	HGNC	Q6FHM9_HUMAN	.	UPI0000127386	SNV	CD59,3_prime_UTR_variant,,ENST00000445143,;CD59,3_prime_UTR_variant,,ENST00000351554,;CD59,3_prime_UTR_variant,,ENST00000437761,;CD59,3_prime_UTR_variant,,ENST00000415002,;CD59,3_prime_UTR_variant,,ENST00000395850,;CD59,3_prime_UTR_variant,,ENST00000426650,;CD59,3_prime_UTR_variant,,ENST00000533403,;CD59,intron_variant,,ENST00000534312,;CD59,downstream_gene_variant,,ENST00000528700,;CD59,downstream_gene_variant,,ENST00000527577,;CD59,3_prime_UTR_variant,,ENST00000525763,;CD59,3_prime_UTR_variant,,ENST00000533181,;CD59,non_coding_transcript_exon_variant,,ENST00000528987,;CD59,intron_variant,,ENST00000527926,;	615	8	21	SUCCESS
SMIM2	79024	.	GRCh37	13	44717962	44717962	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	30	72	0	ENST00000400419.1:c.*92A>C			ENST00000400419	NM_024058.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS61320.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GAATGTCCAGA	NONE	.	.	.	.	.	ENSP00000383270	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000400419	Transcript	.	.	ENSG00000139656	28776	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SMIM2_HUMAN	SMIM2	HGNC	.	.	UPI0000072952	SNV	SMIM2,3_prime_UTR_variant,,ENST00000400419,;SMIM2-AS1,intron_variant,,ENST00000444663,;SMIM2-AS1,intron_variant,,ENST00000437867,;SMIM2-IT1,downstream_gene_variant,,ENST00000415082,;	539	72	41	SUCCESS
HLF	3131	.	GRCh37	17	53398333	53398333	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	43	36	66	0	ENST00000226067.5:c.*93A>G			ENST00000226067	NM_002126.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS11585.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TCAGCACTTTA	NONE	.	.	.	.	.	ENSP00000226067	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000226067	Transcript	.	.	ENSG00000108924	4977	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	HLF_HUMAN	HLF	HGNC	Q6FHS9_HUMAN,A8K1X8_HUMAN	.	UPI0000001C51	SNV	HLF,3_prime_UTR_variant,,ENST00000573945,;HLF,3_prime_UTR_variant,,ENST00000572002,;HLF,3_prime_UTR_variant,,ENST00000575345,;HLF,3_prime_UTR_variant,,ENST00000430986,;HLF,3_prime_UTR_variant,,ENST00000226067,;RP11-515O17.3,downstream_gene_variant,,ENST00000576751,;HLF,non_coding_transcript_exon_variant,,ENST00000575307,;HLF,downstream_gene_variant,,ENST00000575868,;HLF,downstream_gene_variant,,ENST00000573422,;HLF,3_prime_UTR_variant,,ENST00000570962,;	1454	66	79	SUCCESS
LILRA5	353514	.	GRCh37	19	54822565	54822565	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	rs1443663364	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	31	23	52	0	ENST00000432233.3:c.*33T>A			ENST00000432233	NM_181879.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS12888.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CTAGGATTTCT	NONE	.	.	.	.	.	ENSP00000301219	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000301219	Transcript	.	.	ENSG00000187116	16309	.	.	MODIFIER	5/6	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LIRA5_HUMAN	LILRA5	HGNC	.	.	UPI0000034C06	SNV	LILRA5,3_prime_UTR_variant,,ENST00000432233,;LILRA5,3_prime_UTR_variant,,ENST00000446712,;LILRA5,intron_variant,,ENST00000346508,;LILRA5,intron_variant,,ENST00000301219,;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,intron_variant,,ENST00000477720,;	.	52	54	SUCCESS
SDHC	6391	.	GRCh37	1	161332494	161332494	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	21	9	19	0	ENST00000367975.2:c.*271T>G			ENST00000367975	NM_003001.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS1230.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TATTCTCTCTC	NONE	.	.	.	.	.	ENSP00000356953	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000367975	Transcript	.	.	ENSG00000143252	10682	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	C560_HUMAN	SDHC	HGNC	D3DVH1_HUMAN	.	UPI0000001636	SNV	SDHC,3_prime_UTR_variant,,ENST00000367975,;SDHC,3_prime_UTR_variant,,ENST00000342751,;C1orf192,downstream_gene_variant,,ENST00000367974,;SDHC,downstream_gene_variant,,ENST00000432287,;SDHC,downstream_gene_variant,,ENST00000392169,;SDHC,downstream_gene_variant,,ENST00000513009,;SDHC,intron_variant,,ENST00000513700,;SDHC,downstream_gene_variant,,ENST00000470743,;SDHC,downstream_gene_variant,,ENST00000504963,;	930	19	31	SUCCESS
IKBKE	9641	.	GRCh37	1	206669603	206669603	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	45	3	23	0	ENST00000367120.3:c.*125C>T			ENST00000367120	NM_014002.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS30996.1	.	MUTECT|MUSE	.	GGCTGCTGGCC	NONE	.	.	.	.	.	ENSP00000356087	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000367120	Transcript	.	.	ENSG00000143466	14552	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	IKKE_HUMAN	IKBKE	HGNC	.	.	UPI0000033727	SNV	IKBKE,3_prime_UTR_variant,,ENST00000367120,;IKBKE,3_prime_UTR_variant,,ENST00000537984,;C1orf147,intron_variant,,ENST00000367119,;	2649	23	48	SUCCESS
C1orf213	0	.	GRCh37	1	23696970	23696970	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	88	157	0	ENST00000335648.3:c.*799G>A			ENST00000335648				0	.	.	.	.	.	A	.	protein_coding	YES	.	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCTTTGGAAAG	NONE	.	.	.	.	.	ENSP00000441287	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000335648	Transcript	.	.	ENSG00000249087	25122	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CA213_HUMAN	C1orf213	HGNC	.	.	UPI000013F6D0	SNV	C1orf213,3_prime_UTR_variant,,ENST00000335648,;C1orf213,intron_variant,,ENST00000518821,;C1orf213,intron_variant,,ENST00000454117,;C1orf213,intron_variant,,ENST00000437367,;C1orf213,upstream_gene_variant,,ENST00000518600,;ZNF436,upstream_gene_variant,,ENST00000314011,;ZNF436,upstream_gene_variant,,ENST00000374608,;Y_RNA,downstream_gene_variant,,ENST00000364535,;C1orf213,intron_variant,,ENST00000458053,;	1242	157	178	SUCCESS
SLC4A7	9497	.	GRCh37	3	27418169	27418169	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	42	7	50	0	ENST00000295736.5:c.*86T>C			ENST00000295736	NM_003615.4			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS33721.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCATGACATAC	NONE	.	.	.	.	.	ENSP00000295736	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000295736	Transcript	.	.	ENSG00000033867	11033	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	S4A7_HUMAN	SLC4A7	HGNC	.	.	UPI0000DBEEB7	SNV	SLC4A7,3_prime_UTR_variant,,ENST00000388777,;SLC4A7,3_prime_UTR_variant,,ENST00000425128,;SLC4A7,3_prime_UTR_variant,,ENST00000435667,;SLC4A7,3_prime_UTR_variant,,ENST00000445684,;SLC4A7,3_prime_UTR_variant,,ENST00000454389,;SLC4A7,3_prime_UTR_variant,,ENST00000419036,;SLC4A7,3_prime_UTR_variant,,ENST00000428386,;SLC4A7,3_prime_UTR_variant,,ENST00000440156,;SLC4A7,3_prime_UTR_variant,,ENST00000437179,;SLC4A7,3_prime_UTR_variant,,ENST00000295736,;SLC4A7,3_prime_UTR_variant,,ENST00000455077,;SLC4A7,3_prime_UTR_variant,,ENST00000446700,;SLC4A7,3_prime_UTR_variant,,ENST00000438530,;SLC4A7,3_prime_UTR_variant,,ENST00000457377,;SLC4A7,downstream_gene_variant,,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000465487,;	3802	50	50	SUCCESS
BST1	683	.	GRCh37	4	15733514	15733514	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	57	123	0	ENST00000265016.4:c.*46C>T			ENST00000265016	NM_004334.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3416.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCCCCTTGC	NONE	.	.	.	.	.	ENSP00000265016	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000265016	Transcript	.	.	ENSG00000109743	1118	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BST1_HUMAN	BST1	HGNC	.	.	UPI0000072318	SNV	BST1,3_prime_UTR_variant,,ENST00000382346,;BST1,3_prime_UTR_variant,,ENST00000265016,;BST1,intron_variant,,ENST00000514445,;BST1,intron_variant,,ENST00000514989,;RP11-115L11.1,upstream_gene_variant,,ENST00000498116,;	1198	123	109	SUCCESS
IRX1	79192	.	GRCh37	5	3601163	3601163	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs1347434641	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	93	48	119	0	ENST00000302006.3:c.*9C>T			ENST00000302006	NM_024337.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS34132.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	AGGGTCTTCTT	NONE	.	.	.	.	.	ENSP00000305244	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000302006	Transcript	.	.	ENSG00000170549	14358	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	IRX1_HUMAN	IRX1	HGNC	.	.	UPI00001B6455	SNV	IRX1,3_prime_UTR_variant,,ENST00000302006,;CTD-2012M11.3,upstream_gene_variant,,ENST00000559410,;	1504	119	141	SUCCESS
CRISP1	167	.	GRCh37	6	49802972	49802972	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	25	19	22	0	ENST00000335847.4:c.*57G>A			ENST00000335847	NM_001131.2			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4931.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	TGAATCCAACA	NONE	.	.	.	.	.	ENSP00000338276	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000335847	Transcript	.	.	ENSG00000124812	304	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	CRIS1_HUMAN	CRISP1	HGNC	.	.	UPI0000128482	SNV	CRISP1,3_prime_UTR_variant,,ENST00000507853,;CRISP1,3_prime_UTR_variant,,ENST00000329411,;CRISP1,3_prime_UTR_variant,,ENST00000335847,;CRISP1,3_prime_UTR_variant,,ENST00000536021,;CRISP1,3_prime_UTR_variant,,ENST00000505118,;CRISP1,3_prime_UTR_variant,,ENST00000355791,;	909	22	45	SUCCESS
PAQR8	85315	.	GRCh37	6	52270444	52270444	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	55	43	94	0	ENST00000360726.3:c.*1368G>T			ENST00000360726				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS4941.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCAATGATTCC	NONE	.	.	.	.	.	ENSP00000406197	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000442253	Transcript	.	.	ENSG00000170915	15708	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MPRB_HUMAN	PAQR8	HGNC	D6RCM7_HUMAN	.	UPI0000073877	SNV	PAQR8,3_prime_UTR_variant,,ENST00000442253,;PAQR8,3_prime_UTR_variant,,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;	2607	94	99	SUCCESS
NSUN5	55695	.	GRCh37	7	72717375	72717375	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	rs782193485	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	76	16	72	0	ENST00000252594.6:c.*218G>A			ENST00000252594				0	.	.	.	.	.	T	.	protein_coding	YES	CCDS55119.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCTTCCTTTC	NONE	.	.	.	.	.	ENSP00000309126	.	10/10	.	.	.	.	.	.	.	.	rs782193485	10/10	PASS	ENST00000310326	Transcript	.	.	ENSG00000130305	16385	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	NSUN5_HUMAN	NSUN5	HGNC	.	.	UPI00017A7817	SNV	NSUN5,3_prime_UTR_variant,,ENST00000438747,;NSUN5,3_prime_UTR_variant,,ENST00000428206,;NSUN5,3_prime_UTR_variant,,ENST00000310326,;NSUN5,3_prime_UTR_variant,,ENST00000252594,;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,downstream_gene_variant,,ENST00000455763,;NSUN5,downstream_gene_variant,,ENST00000478977,;POM121B,downstream_gene_variant,,ENST00000380760,;POM121B,downstream_gene_variant,,ENST00000411631,;	1459	72	92	SUCCESS
MAGEB10	139422	.	GRCh37	X	27840478	27840478	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	184	54	199	0	ENST00000356790.2:c.*11A>T			ENST00000356790	NM_182506.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS35221.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	GAGGGAGATTC	NONE	.	.	.	.	.	ENSP00000368304	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000356790	Transcript	.	.	ENSG00000177689	25377	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	MAGBA_HUMAN	MAGEB10	HGNC	.	.	UPI000013F050	SNV	MAGEB10,3_prime_UTR_variant,,ENST00000356790,;	1300	199	239	SUCCESS
NLGN4X	57502	.	GRCh37	X	5810690	5810690	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ZS-A9CE-01	TCGA-ZS-A9CE-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	3	5	11	0	ENST00000275857.6:c.*168C>T			ENST00000275857	NM_020742.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS14126.1	.	MUTECT|MUSE	.	GGTCTGCCGGG	NONE	.	.	.	.	.	ENSP00000370485	.	6/6	.	.	.	.	.	.	.	.	.	6/6	PASS	ENST00000381095	Transcript	.	.	ENSG00000146938	14287	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NLGNX_HUMAN	NLGN4X	HGNC	B3KMT6_HUMAN	.	UPI0000072EC5	SNV	NLGN4X,3_prime_UTR_variant,,ENST00000381092,;NLGN4X,3_prime_UTR_variant,,ENST00000381095,;NLGN4X,3_prime_UTR_variant,,ENST00000381093,;NLGN4X,3_prime_UTR_variant,,ENST00000538097,;NLGN4X,3_prime_UTR_variant,,ENST00000275857,;NLGN4X,intron_variant,,ENST00000477079,;	3247	11	8	SUCCESS
GDPD5	81544	.	GRCh37	11	75146504	75146504	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1414048568	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	24	3	26	0	ENST00000336898.3:c.*48C>T			ENST00000336898	NM_030792.6			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS8238.1	.	MUTECT|MUSE	.	CCTAGGCTCCC	NONE	.	.	.	.	.	ENSP00000337972	.	17/17	.	.	.	.	.	.	.	.	.	17/17	PASS	ENST00000336898	Transcript	.	.	ENSG00000158555	28804	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	GDPD5_HUMAN	GDPD5	HGNC	E9PJU5_HUMAN	.	UPI000013FB97	SNV	GDPD5,3_prime_UTR_variant,,ENST00000336898,;GDPD5,3_prime_UTR_variant,,ENST00000533805,;GDPD5,3_prime_UTR_variant,,ENST00000526177,;GDPD5,3_prime_UTR_variant,,ENST00000533784,;GDPD5,3_prime_UTR_variant,,ENST00000443276,;GDPD5,3_prime_UTR_variant,,ENST00000376282,;GDPD5,3_prime_UTR_variant,,ENST00000529721,;KLHL35,upstream_gene_variant,,ENST00000539798,;GDPD5,downstream_gene_variant,,ENST00000534322,;GDPD5,3_prime_UTR_variant,,ENST00000527820,;GDPD5,non_coding_transcript_exon_variant,,ENST00000531759,;	2704	26	27	SUCCESS
LHFP	0	.	GRCh37	13	39918034	39918034	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	19	17	32	0	ENST00000379589.3:c.*39C>T			ENST00000379589	NM_005780.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS9369.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTTTGGCCCA	NONE	.	.	.	.	.	ENSP00000368908	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000379589	Transcript	.	.	ENSG00000183722	6586	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LHFP_HUMAN	LHFP	HGNC	.	.	UPI000006D140	SNV	LHFP,3_prime_UTR_variant,,ENST00000379589,;	1105	32	37	SUCCESS
MT2A	4502	.	GRCh37	16	56643388	56643388	+	3_prime_UTR_variant	3'UTR	SNP	T	T	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	20	19	51	0	ENST00000245185.5:c.*122T>G			ENST00000245185	NM_005953.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS10763.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGATAATAA	NONE	.	.	.	.	.	ENSP00000245185	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000245185	Transcript	.	.	ENSG00000125148	7406	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MT2_HUMAN	MT2A	HGNC	.	.	UPI000012F71A	SNV	MT2A,3_prime_UTR_variant,,ENST00000561491,;MT2A,3_prime_UTR_variant,,ENST00000245185,;RP11-249C24.10,downstream_gene_variant,,ENST00000569778,;MT2A,non_coding_transcript_exon_variant,,ENST00000567300,;MT2A,non_coding_transcript_exon_variant,,ENST00000563985,;MT2A,non_coding_transcript_exon_variant,,ENST00000562017,;	765	51	39	SUCCESS
SV2A	9900	.	GRCh37	1	149872238	149872238	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	38	28	84	0				ENST00000369146	NM_014849.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS939.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCCCTGGACT	NONE	.	194	.	.	.	ENSP00000358149	.	.	.	.	.	.	.	.	.	.	.	.	PASS	ENST00000369153	Transcript	.	.	ENSG00000178096	24263	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	BOLA1_HUMAN	BOLA1	HGNC	.	.	UPI000013A5F7	SNV	BOLA1,3_prime_UTR_variant,,ENST00000369152,;BOLA1,downstream_gene_variant,,ENST00000369150,;SV2A,downstream_gene_variant,,ENST00000369145,;BOLA1,downstream_gene_variant,,ENST00000369153,;SV2A,downstream_gene_variant,,ENST00000369146,;BOLA1,non_coding_transcript_exon_variant,,ENST00000476344,;	.	84	67	SUCCESS
KIAA1522	57648	.	GRCh37	1	33238677	33238677	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	11	5	17	0	ENST00000373480.1:c.*189T>C			ENST00000373480	NM_001198972.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS41298.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TGCGCTCATGC	NONE	.	.	.	.	.	ENSP00000383851	.	7/7	.	.	.	.	.	.	.	.	.	7/7	PASS	ENST00000401073	Transcript	.	.	ENSG00000162522	29301	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	K1522_HUMAN	KIAA1522	HGNC	.	.	UPI000022ACD0	SNV	KIAA1522,3_prime_UTR_variant,,ENST00000373481,;KIAA1522,3_prime_UTR_variant,,ENST00000373480,;KIAA1522,3_prime_UTR_variant,,ENST00000294521,;KIAA1522,3_prime_UTR_variant,,ENST00000401073,;YARS,downstream_gene_variant,,ENST00000373477,;YARS,downstream_gene_variant,,ENST00000487404,;YARS,downstream_gene_variant,,ENST00000469100,;YARS,downstream_gene_variant,,ENST00000490826,;YARS,downstream_gene_variant,,ENST00000478828,;KIAA1522,downstream_gene_variant,,ENST00000468130,;	3544	17	16	SUCCESS
TAL1	6886	.	GRCh37	1	47685258	47685258	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs986922417	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	6	14	28	0	ENST00000294339.3:c.*134C>T			ENST00000294339	NM_003189.2			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS547.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	CCAAAGTTCAG	NONE	.	.	.	.	.	ENSP00000294339	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000294339	Transcript	.	.	ENSG00000162367	11556	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TAL1_HUMAN	TAL1	HGNC	Q9UE36_HUMAN	.	UPI00001368B2	SNV	TAL1,3_prime_UTR_variant,,ENST00000294339,;TAL1,3_prime_UTR_variant,,ENST00000371883,;TAL1,3_prime_UTR_variant,,ENST00000371884,;TAL1,non_coding_transcript_exon_variant,,ENST00000459729,;TAL1,downstream_gene_variant,,ENST00000464796,;	1707	28	20	SUCCESS
MMP24	10893	.	GRCh37	20	33862533	33862533	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	10	9	28	0	ENST00000246186.6:c.*121C>G			ENST00000246186	NM_006690.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS46593.1	.	MUTECT|MUSE	.	TCGTACAGCTG	NONE	.	.	.	.	.	ENSP00000246186	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000246186	Transcript	.	.	ENSG00000125966	7172	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	MMP24_HUMAN	MMP24	HGNC	Q86VV6_HUMAN	.	UPI000012F259	SNV	MMP24,3_prime_UTR_variant,,ENST00000246186,;EDEM2,intron_variant,,ENST00000540582,;EIF6,downstream_gene_variant,,ENST00000374450,;EIF6,downstream_gene_variant,,ENST00000374436,;EIF6,downstream_gene_variant,,ENST00000374443,;RP4-614O4.11,intron_variant,,ENST00000444717,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000455178,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,downstream_gene_variant,,ENST00000456790,;MMP24-AS1,downstream_gene_variant,,ENST00000435366,;MMP24-AS1,downstream_gene_variant,,ENST00000424358,;MMP24-AS1,upstream_gene_variant,,ENST00000453892,;EIF6,downstream_gene_variant,,ENST00000447927,;EIF6,downstream_gene_variant,,ENST00000440766,;	2144	28	19	SUCCESS
LONRF2	164832	.	GRCh37	2	100900686	100900686	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	96	75	152	0	ENST00000393437.3:c.*74T>C			ENST00000393437	NM_198461.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2046.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATGAATGGAC	NONE	.	.	.	.	.	ENSP00000377086	.	12/12	.	.	.	.	.	.	.	.	.	12/12	PASS	ENST00000393437	Transcript	.	.	ENSG00000170500	24788	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	LONF2_HUMAN	LONRF2	HGNC	.	.	UPI000152B4EF	SNV	LONRF2,3_prime_UTR_variant,,ENST00000393437,;LONRF2,3_prime_UTR_variant,,ENST00000409647,;	2979	152	172	SUCCESS
FHL2	2274	.	GRCh37	2	105977579	105977579	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	7	11	0	ENST00000322142.8:c.*161T>C			ENST00000322142	NM_001039492.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS2070.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATCACAAAGCA	NONE	.	.	.	.	.	ENSP00000350846	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000358129	Transcript	.	.	ENSG00000115641	3703	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FHL2_HUMAN	FHL2	HGNC	Q6I9R8_HUMAN,Q53T40_HUMAN,Q53QP3_HUMAN,C9J3S8_HUMAN	.	UPI0000140D45	SNV	FHL2,3_prime_UTR_variant,,ENST00000393352,;FHL2,3_prime_UTR_variant,,ENST00000344213,;FHL2,3_prime_UTR_variant,,ENST00000409807,;FHL2,3_prime_UTR_variant,,ENST00000358129,;FHL2,3_prime_UTR_variant,,ENST00000393353,;FHL2,3_prime_UTR_variant,,ENST00000322142,;FHL2,3_prime_UTR_variant,,ENST00000336660,;FHL2,3_prime_UTR_variant,,ENST00000408995,;FHL2,3_prime_UTR_variant,,ENST00000409177,;AC012360.6,upstream_gene_variant,,ENST00000457290,;FHL2,3_prime_UTR_variant,,ENST00000530340,;FHL2,downstream_gene_variant,,ENST00000452732,;	1580	11	15	SUCCESS
NEU4	129807	.	GRCh37	2	242758455	242758456	+	3_prime_UTR_variant	3'UTR	INS	-	-	G	rs988334766	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	-	-	.	.	.	.	.	.	.	.	.	.	.	.	.	12	6	19	0	ENST00000391969.2:c.*89dup			ENST00000391969	NM_001167602.1			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS54441.1	.	INDELOCATOR|VARSCANI	.	AGCTGTGGGGG	NONE	.	.	.	.	.	ENSP00000320318	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000325935	Transcript	.	.	ENSG00000204099	21328	8	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	NEUR4_HUMAN	NEU4	HGNC	C9JRN9_HUMAN,C9J5X2_HUMAN,C9J2V4_HUMAN,B3KR54_HUMAN	.	UPI0000EE378E	insertion	NEU4,3_prime_UTR_variant,,ENST00000407683,;NEU4,3_prime_UTR_variant,,ENST00000325935,;NEU4,3_prime_UTR_variant,,ENST00000391969,;NEU4,3_prime_UTR_variant,,ENST00000405370,;NEU4,3_prime_UTR_variant,,ENST00000404257,;NEU4,downstream_gene_variant,,ENST00000435934,;NEU4,downstream_gene_variant,,ENST00000415936,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000420288,;NEU4,downstream_gene_variant,,ENST00000423583,;NEU4,downstream_gene_variant,,ENST00000426032,;NEU4,3_prime_UTR_variant,,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000406147,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000494678,;NEU4,downstream_gene_variant,,ENST00000476542,;	2004-2005	19	18	SUCCESS
MUC4	4585	.	GRCh37	3	195473919	195473919	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	90	25	86	0	ENST00000463781.3:c.*128T>G			ENST00000463781	NM_018406.6			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS54700.1	.	MUTECT|SOMATICSNIPER|MUSE|VARSCANS	.	TATTCATTCTC	NONE	.	.	.	.	.	ENSP00000417498	.	25/25	.	.	.	.	.	.	.	.	.	25/25	PASS	ENST00000463781	Transcript	.	.	ENSG00000145113	7514	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	.	MUC4	HGNC	O75456_HUMAN,E9PDY6_HUMAN	.	UPI0001B3CB30	SNV	MUC4,3_prime_UTR_variant,,ENST00000463781,;MUC4,3_prime_UTR_variant,,ENST00000346145,;MUC4,3_prime_UTR_variant,,ENST00000349607,;MUC4,downstream_gene_variant,,ENST00000475231,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,3_prime_UTR_variant,,ENST00000478156,;MUC4,downstream_gene_variant,,ENST00000469992,;MUC4,downstream_gene_variant,,ENST00000470451,;MUC4,downstream_gene_variant,,ENST00000477086,;MUC4,downstream_gene_variant,,ENST00000466475,;MUC4,downstream_gene_variant,,ENST00000479406,;MUC4,downstream_gene_variant,,ENST00000477756,;MUC4,downstream_gene_variant,,ENST00000464234,;MUC4,downstream_gene_variant,,ENST00000467235,;MUC4,downstream_gene_variant,,ENST00000462323,;MUC4,downstream_gene_variant,,ENST00000480843,;	16827	86	115	SUCCESS
FAM218A	152756	.	GRCh37	4	165878676	165878676	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	120	115	245	0	ENST00000513876.2:c.*28C>T			ENST00000513876	NM_153027.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS3807.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	GCTCACAGGGG	NONE	.	.	.	.	.	ENSP00000427428	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000513876	Transcript	.	.	ENSG00000250486	26466	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	F218A_HUMAN	FAM218A	HGNC	.	.	UPI000006D0F5	SNV	FAM218A,3_prime_UTR_variant,,ENST00000513876,;TRIM61,intron_variant,,ENST00000329314,;RP11-366M4.8,intron_variant,,ENST00000596751,;	577	245	236	SUCCESS
ZFP42	132625	.	GRCh37	4	188924988	188924988	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	86	90	155	0	ENST00000326866.4:c.*94T>C			ENST00000326866	NM_174900.3			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS3849.1	.	RADIA|MUTECT|MUSE	.	ATCAATATTGC	NONE	.	.	.	.	.	ENSP00000317686	.	4/4	.	.	.	.	.	.	.	.	.	4/4	PASS	ENST00000326866	Transcript	.	.	ENSG00000179059	30949	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	ZFP42_HUMAN	ZFP42	HGNC	.	.	UPI0000049CA7	SNV	ZFP42,3_prime_UTR_variant,,ENST00000326866,;ZFP42,3_prime_UTR_variant,,ENST00000509524,;	1435	155	177	SUCCESS
PRR16	51334	.	GRCh37	5	120022461	120022461	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	rs1004623325	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	7	15	0	ENST00000407149.2:c.*57G>A			ENST00000407149				0	.	.	.	.	.	A	.	protein_coding	YES	CCDS4127.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	AATAAGTAATG	NONE	.	.	.	.	.	ENSP00000368869	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000379551	Transcript	.	.	ENSG00000184838	29654	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	PRR16_HUMAN	PRR16	HGNC	D6RGF0_HUMAN	.	UPI0000073195	SNV	PRR16,3_prime_UTR_variant,,ENST00000407149,;PRR16,3_prime_UTR_variant,,ENST00000446965,;PRR16,3_prime_UTR_variant,,ENST00000505123,;PRR16,3_prime_UTR_variant,,ENST00000379551,;PRR16,downstream_gene_variant,,ENST00000509923,;	1260	15	16	SUCCESS
TCERG1	10915	.	GRCh37	5	145890262	145890262	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	32	25	50	0	ENST00000296702.5:c.*57C>G			ENST00000296702	NM_006706.3			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS4282.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	ATTTTCAGGTT	NONE	.	.	.	.	.	ENSP00000296702	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000296702	Transcript	.	.	ENSG00000113649	15630	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	TCRG1_HUMAN	TCERG1	HGNC	.	.	UPI000013E374	SNV	TCERG1,3_prime_UTR_variant,,ENST00000296702,;TCERG1,3_prime_UTR_variant,,ENST00000394421,;GPR151,downstream_gene_variant,,ENST00000311104,;TCERG1,downstream_gene_variant,,ENST00000503741,;TCERG1,downstream_gene_variant,,ENST00000514567,;TCERG1,3_prime_UTR_variant,,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000511077,;TCERG1,non_coding_transcript_exon_variant,,ENST00000506524,;TCERG1,downstream_gene_variant,,ENST00000514719,;	3392	50	57	SUCCESS
HRH2	3274	.	GRCh37	5	175112488	175112488	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	89	78	218	0				ENST00000231683	NM_022304.2	385		0	.	.	.	.	.	A	A/T	protein_coding	YES	CCDS47344.1	1153	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CATTTGCAAAC	NONE	.	.	.	.	.	ENSP00000366506	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000377291	Transcript	.	.	ENSG00000113749	5183	.	.	MODERATE	.	PRIMARY	.	.	.	.	5	.	.	.	benign(0.004)	.	tolerated_low_confidence(0.21)	.	HRH2_HUMAN	HRH2	HGNC	.	.	UPI00001B2326	SNV	HRH2,missense_variant,p.Ala385Thr,ENST00000377291,;HRH2,downstream_gene_variant,,ENST00000231683,;	1804	218	167	SUCCESS
ABCC10	89845	.	GRCh37	6	43418033	43418033	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	G	G	.	.	.	.	.	.	.	.	.	.	.	.	.	9	17	28	0	ENST00000372530.4:c.*204G>T			ENST00000372530	NM_001198934.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS56430.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CCTCTGCTCTG	NONE	.	.	.	.	.	ENSP00000361608	.	22/22	.	.	.	.	.	.	.	.	.	22/22	PASS	ENST00000372530	Transcript	.	.	ENSG00000124574	52	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	MRP7_HUMAN	ABCC10	HGNC	Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN	.	UPI000004A062	SNV	ABCC10,3_prime_UTR_variant,,ENST00000244533,;ABCC10,3_prime_UTR_variant,,ENST00000372530,;ABCC10,3_prime_UTR_variant,,ENST00000505344,;DLK2,downstream_gene_variant,,ENST00000372488,;DLK2,downstream_gene_variant,,ENST00000430324,;DLK2,downstream_gene_variant,,ENST00000414245,;DLK2,downstream_gene_variant,,ENST00000372485,;DLK2,downstream_gene_variant,,ENST00000357338,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,downstream_gene_variant,,ENST00000372512,;ABCC10,downstream_gene_variant,,ENST00000437104,;	4898	28	26	SUCCESS
FUT9	10690	.	GRCh37	6	96660949	96660949	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	7	36	82	0	ENST00000302103.5:c.*8838T>A			ENST00000302103	NM_006581.3			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS5033.1	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	CAAACTGCCAT	NONE	.	.	.	.	.	ENSP00000302599	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000302103	Transcript	.	.	ENSG00000172461	4020	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	FUT9_HUMAN	FUT9	HGNC	.	.	UPI000013E792	SNV	FUT9,3_prime_UTR_variant,,ENST00000302103,;	10244	82	43	SUCCESS
PABPC1L2B	645974	.	GRCh37	X	72224900	72224900	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	.	TCGA-ZS-A9CF-01	TCGA-ZS-A9CF-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	25	37	0	ENST00000373521.2:c.*816C>A			ENST00000373521	NM_001042506.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS43972.1	.	SOMATICSNIPER|VARSCANS	.	CAAGCCAAATC	NONE	.	.	.	.	.	ENSP00000362621	.	1/1	.	.	.	.	.	.	.	.	.	1/1	PASS	ENST00000373521	Transcript	.	.	ENSG00000184388	31852	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	PAP1M_HUMAN	PABPC1L2B	HGNC	.	.	UPI00001C207A	SNV	PABPC1L2B,3_prime_UTR_variant,,ENST00000373521,;PABPC1L2B,downstream_gene_variant,,ENST00000538388,;RP11-493K23.1,upstream_gene_variant,,ENST00000416989,;	1549	37	30	SUCCESS
OLAH	55301	.	GRCh37	10	15115380	15115380	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	8	4	16	0	ENST00000378228.3:c.*152A>G			ENST00000378228	NM_001039702.2			0	.	.	.	.	.	G	.	protein_coding	YES	CCDS7106.1	.	MUTECT|MUSE	.	GGACAAAGGTC	NONE	.	.	.	.	.	ENSP00000367462	.	9/9	.	.	.	.	.	.	.	.	.	9/9	PASS	ENST00000378217	Transcript	.	.	ENSG00000152463	25625	.	.	MODIFIER	.	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SAST_HUMAN	OLAH	HGNC	Q5VUC1_HUMAN	.	UPI000007139E	SNV	OLAH,3_prime_UTR_variant,,ENST00000378217,;OLAH,3_prime_UTR_variant,,ENST00000378228,;ACBD7,downstream_gene_variant,,ENST00000356189,;OLAH,downstream_gene_variant,,ENST00000485251,;DCLRE1CP1,intron_variant,,ENST00000378211,;	1296	16	12	SUCCESS
GRAMD1B	57476	.	GRCh37	11	123493478	123493478	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	14	8	20	0	ENST00000529750.1:c.*175C>T			ENST00000529750	NM_020716.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS53720.1	.	SOMATICSNIPER|RADIA|MUTECT|MUSE|VARSCANS	.	GCGCCCTGTGC	NONE	.	.	.	.	.	ENSP00000436500	.	20/20	.	.	.	.	.	.	.	.	.	20/20	PASS	ENST00000529750	Transcript	.	.	ENSG00000023171	29214	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	GRM1B_HUMAN	GRAMD1B	HGNC	.	.	UPI00005C3025	SNV	GRAMD1B,3_prime_UTR_variant,,ENST00000322282,;GRAMD1B,3_prime_UTR_variant,,ENST00000450171,;GRAMD1B,3_prime_UTR_variant,,ENST00000529432,;GRAMD1B,3_prime_UTR_variant,,ENST00000529750,;GRAMD1B,downstream_gene_variant,,ENST00000456860,;GRAMD1B,downstream_gene_variant,,ENST00000525945,;GRAMD1B,downstream_gene_variant,,ENST00000532581,;	2719	20	22	SUCCESS
SPTSSA	171546	.	GRCh37	14	34904351	34904351	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	52	25	92	0	ENST00000298130.4:c.*56G>A			ENST00000298130	NM_138288.3			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS9647.2	.	MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS	.	TCATTCCAACT	NONE	.	.	.	.	.	ENSP00000298130	.	2/2	.	.	.	.	.	.	.	.	.	2/2	PASS	ENST00000298130	Transcript	.	.	ENSG00000165389	20361	.	.	MODIFIER	.	PRIMARY	.	.	.	.	5	.	.	.	.	.	.	.	SPTSA_HUMAN	SPTSSA	HGNC	.	.	UPI000015D305	SNV	SPTSSA,3_prime_UTR_variant,,ENST00000298130,;EGLN3,intron_variant,,ENST00000551935,;	421	92	78	SUCCESS
C1orf123	0	.	GRCh37	1	53680129	53680129	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	C	C	.	.	.	.	.	.	.	.	.	.	.	.	.	5	5	12	0	ENST00000294360.4:c.*202G>A			ENST00000294360	NM_017887.1			0	.	.	.	.	.	T	.	protein_coding	YES	CCDS576.1	.	RADIA|MUTECT|MUSE	.	TACTTCACCTT	NONE	.	.	.	.	.	ENSP00000294360	.	8/8	.	.	.	.	.	.	.	.	.	8/8	PASS	ENST00000294360	Transcript	.	.	ENSG00000162384	26059	.	.	MODIFIER	.	PRIMARY	.	.	.	.	3	.	.	.	.	.	.	.	CA123_HUMAN	C1orf123	HGNC	D3DQ38_HUMAN	.	UPI000006D354	SNV	C1orf123,3_prime_UTR_variant,,ENST00000294360,;CPT2,downstream_gene_variant,,ENST00000371486,;RP5-1024G6.2,upstream_gene_variant,,ENST00000452466,;C1orf123,non_coding_transcript_exon_variant,,ENST00000470385,;C1orf123,non_coding_transcript_exon_variant,,ENST00000483739,;C1orf123,downstream_gene_variant,,ENST00000478839,;C1orf123,downstream_gene_variant,,ENST00000489755,;	727	12	10	SUCCESS
FTSJ2	0	.	GRCh37	7	2274689	2274689	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	A	A	.	.	.	.	.	.	.	.	.	.	.	.	.	35	5	54	0	ENST00000242257.8:c.*68T>G			ENST00000242257	NM_013393.1			0	.	.	.	.	.	C	.	protein_coding	YES	CCDS5328.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCTTCAGGAGC	NONE	.	.	.	.	.	ENSP00000242257	.	3/3	.	.	.	.	.	.	.	.	.	3/3	PASS	ENST00000242257	Transcript	.	.	ENSG00000122687	16352	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	RRMJ2_HUMAN	FTSJ2	HGNC	Q68D18_HUMAN	.	UPI00000373C0	SNV	FTSJ2,3_prime_UTR_variant,,ENST00000407040,;FTSJ2,3_prime_UTR_variant,,ENST00000440306,;FTSJ2,3_prime_UTR_variant,,ENST00000242257,;MAD1L1,upstream_gene_variant,,ENST00000402746,;MAD1L1,upstream_gene_variant,,ENST00000399654,;MAD1L1,upstream_gene_variant,,ENST00000455998,;MAD1L1,upstream_gene_variant,,ENST00000406869,;MAD1L1,upstream_gene_variant,,ENST00000265854,;MAD1L1,upstream_gene_variant,,ENST00000429779,;FTSJ2,non_coding_transcript_exon_variant,,ENST00000486040,;FTSJ2,non_coding_transcript_exon_variant,,ENST00000467199,;	838	54	40	SUCCESS
TG	7038	.	GRCh37	8	134147092	134147092	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	.	TCGA-ZS-A9CG-01	TCGA-ZS-A9CG-10	T	T	.	.	.	.	.	.	.	.	.	.	.	.	.	50	13	42	0	ENST00000220616.4:c.*54T>A			ENST00000220616	NM_003235.4			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS34944.1	.	RADIA|MUTECT|MUSE|VARSCANS	.	TCATCTTTTTC	NONE	.	.	.	.	.	ENSP00000220616	.	48/48	.	.	.	.	.	.	.	.	.	48/48	PASS	ENST00000220616	Transcript	1	.	ENSG00000042832	11764	.	.	MODIFIER	.	PRIMARY	.	.	.	.	4	.	.	.	.	.	.	.	THYG_HUMAN	TG	HGNC	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	.	UPI000013C79F	SNV	TG,3_prime_UTR_variant,,ENST00000220616,;TG,3_prime_UTR_variant,,ENST00000521107,;TG,3_prime_UTR_variant,,ENST00000377869,;TG,3_prime_UTR_variant,,ENST00000519543,;TG,downstream_gene_variant,,ENST00000542445,;TG,downstream_gene_variant,,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522691,;	8401	42	63	SUCCESS
SURF2	6835	.	GRCh37	9	136218901	136223784	+	splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant	Splice_Site	DEL	CCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGCCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTATTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAGGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTC	CCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGCCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTATTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAGGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTC	A	novel	.	TCGA-RC-A6M3-01	TCGA-RC-A6M3-10	CCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGCCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTATTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAGGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTC	CCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGCCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTATTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAGGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTC	.	.	.	.	.	.	.	.	.	.	.	.	.	30	17	36	0				ENST00000371964	NM_001278928.1			0	.	.	.	.	.	A	.	protein_coding	YES	CCDS6967.1	.	RADIA*|PINDEL	.	AGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGCCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTATTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAGGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAG	NONE	.	.	.	.	.	ENSP00000361032	.	1/6	.	.	.	.	.	.	.	.	.	1/6	PASS	ENST00000371964	Transcript	.	.	ENSG00000148291	11475	.	.	HIGH	1/5	PRIMARY	.	.	.	.	2	.	.	.	.	.	.	.	SURF2_HUMAN	SURF2	HGNC	.	.	UPI000013DB03	substitution	SURF2,splice_donor_variant,,ENST00000371964,;SURF1,splice_acceptor_variant,,ENST00000371974,;MED22,upstream_gene_variant,,ENST00000476080,;MED22,upstream_gene_variant,,ENST00000344469,;RPL7A,downstream_gene_variant,,ENST00000426651,;RPL7A,downstream_gene_variant,,ENST00000315731,;MED22,upstream_gene_variant,,ENST00000491289,;MED22,upstream_gene_variant,,ENST00000343730,;MED22,upstream_gene_variant,,ENST00000494177,;RPL7A,downstream_gene_variant,,ENST00000323345,;MED22,upstream_gene_variant,,ENST00000446777,;SURF4,downstream_gene_variant,,ENST00000371989,;MED22,upstream_gene_variant,,ENST00000371999,;MED22,upstream_gene_variant,,ENST00000457204,;SNORD36C,downstream_gene_variant,,ENST00000516733,;SNORD24,downstream_gene_variant,,ENST00000383884,;SNORD36A,downstream_gene_variant,,ENST00000362874,;SNORD36B,downstream_gene_variant,,ENST00000363961,;SURF1,transcript_ablation,,ENST00000463965,;SURF2,splice_donor_variant,,ENST00000495524,;SURF1,splice_acceptor_variant,,ENST00000495952,;SURF2,upstream_gene_variant,,ENST00000486887,;RPL7A,downstream_gene_variant,,ENST00000496554,;RPL7A,downstream_gene_variant,,ENST00000468019,;RPL7A,downstream_gene_variant,,ENST00000485706,;RPL7A,downstream_gene_variant,,ENST00000489392,;MED22,upstream_gene_variant,,ENST00000471524,;RPL7A,downstream_gene_variant,,ENST00000463740,;RPL7A,downstream_gene_variant,,ENST00000492798,;SURF1,splice_acceptor_variant,,ENST00000437995,;MED22,upstream_gene_variant,,ENST00000482295,;	.	36	47	SUCCESS
